Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_Position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	A	T	G	C	Cg	cG	tCw	wGa	tCa	tGa	tCt	aGa	tC	Ga	tCh	dGa	cC	Gg	wrC	Gyw	Cc	gG	wA	Tw	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	a_counts	t_counts	g_counts	c_counts	cg_counts	tcw_counts	wga_counts	tca_counts	tga_counts	tct_counts	aga_counts	tc_counts	ga_counts	tch_counts	dga_counts	cc_counts	gg_counts	wrc_counts	gyw_counts	cc_counts	gg_counts	wa_counts	tw_counts	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_File	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	HGVSc	HGVSp	HGVSp_Short	Transcript_ID	Exon_Number	t_depth	t_ref_count	t_alt_count	n_depth	n_ref_count	n_alt_count	callers	all_effects	Allele	Feature	Feature_type	Consequence	cDNA_position	CDS_position	Protein_position	Amino_acids	Codons	Existing_variation	ALLELE_NUM	DISTANCE	STRAND_VEP	SYMBOL	SYMBOL_SOURCE	HGNC_ID	BIOTYPE	CANONICAL	CCDS	ENSP	SWISSPROT	TREMBL	UNIPARC	RefSeq	SIFT	PolyPhen	EXON	INTRON	DOMAINS	GMAF	AFR_MAF	AMR_MAF	ASN_MAF	EAS_MAF	EUR_MAF	SAS_MAF	AA_MAF	EA_MAF	CLIN_SIG	SOMATIC	PUBMED	MOTIF_NAME	MOTIF_POS	HIGH_INF_POS	MOTIF_SCORE_CHANGE	IMPACT	PICK	VARIANT_CLASS	TSL	HGVS_OFFSET	PHENO	MINIMISED	ExAC_AF	ExAC_AF_AFR	ExAC_AF_AMR	ExAC_AF_EAS	ExAC_AF_FIN	ExAC_AF_NFE	ExAC_AF_OTH	ExAC_AF_SAS	GENE_PHENO	FILTER	flanking_bps	variant_id	variant_qual	ExAC_AF_Adj	ExAC_AC_AN_Adj	ExAC_AC_AN	ExAC_AC_AN_AFR	ExAC_AC_AN_AMR	ExAC_AC_AN_EAS	ExAC_AC_AN_FIN	ExAC_AC_AN_NFE	ExAC_AC_AN_OTH	ExAC_AC_AN_SAS	ExAC_FILTER	newbase	effect_idx	newbase_idx	pat_idx	start	end	tum_allele1	tum_allele2	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
NBPF6	0	.	GRCh38	chr1	108452197	108452197	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcttttctcagagtgtgaAgagtacaaagacatcataga	14	12	9	6	0	3	5	2	1	2	4	4	5	3	5	0	0	1	1	0	0	4	4	novel		11LU013_TP	11LU013_NB	A	A																c.186A>G	p.=	p.E62E	ENST00000495380	3/15	59	47	12	43	43	0	strelka-varscan-mutect	NBPF6,synonymous_variant,p.=,ENST00000495380,NM_001143988.1;NBPF6,synonymous_variant,p.=,ENST00000294652,;NBPF6,synonymous_variant,p.=,ENST00000370040,NM_001143987.1;NBPF6,synonymous_variant,p.=,ENST00000531446,;	G	ENST00000495380	Transcript	synonymous_variant	399/2494	186/1917	62/638	E	gaA/gaG		1		1	NBPF6	HGNC	HGNC:31988	protein_coding	YES	CCDS44184.1	ENSP00000417277	Q5VWK0		UPI0000160A67	NM_001143988.1			3/15		hmmpanther:PTHR14199																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	1	108452197	108452197	A	G	1	0	0	0	0	0	0	0	1	10214	69	3	5		5	NBPF6	1	108452197	Silent	SNP	A	11LU013_TP		108452197	140504225	1	1											
PROK1	0	.	GRCh38	chr1	110454043	110454043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctgcggatgtgcacccCgctggggcgggaaggcgagg	6	4	21	10	4	0	0	0	0	0	0	0	3	0	2	2	7	2	3	2	7	1	0	rs751951334		11LU013_TP	11LU013_NB	C	C																c.155C>T	p.Pro52Leu	p.P52L	ENST00000271331	2/3	319	291	28	360	360	0	strelka-varscan-mutect	PROK1,missense_variant,p.Pro52Leu,ENST00000271331,NM_032414.2;RP11-470L19.5,downstream_gene_variant,,ENST00000481350,;	T	ENST00000271331	Transcript	missense_variant	172/1338	155/318	52/105	P/L	cCg/cTg	rs751951334,COSM2118696	1		1	PROK1	HGNC	HGNC:18454	protein_coding	YES	CCDS825.1	ENSP00000271331	P58294	A0A024R0B1	UPI0000034E3F	NM_032414.2	deleterious(0)		2/3		hmmpanther:PTHR18821,hmmpanther:PTHR18821:SF7,Pfam_domain:PF06607,Gene3D:2.10.80.10,Superfamily_domains:SSF57190,PD059788											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs751951334	.												T	3	4	1	110454043	110454043	C	T	1	0	0	0	0	1	0	0	0	12683	652	23	1		1	PROK1	1	110454043	Missense_Mutation	SNP	C	11LU013_TP	2001846	110454043	138502379	2	2											
UBAP2L	0	.	GRCh38	chr1	154228721	154228721	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctggaaggaaacccagAcacggtagagtgcttataga	13	9	11	8	1	2	3	0	0	2	3	2	5	2	5	1	3	2	2	1	3	5	4	novel		11LU013_TP	11LU013_NB	A	A																c.275A>G	p.Asp92Gly	p.D92G	ENST00000428931	4/27	126	95	31	168	168	0	strelka-varscan-mutect	UBAP2L,missense_variant,p.Asp92Gly,ENST00000271877,NM_001287816.1;UBAP2L,missense_variant,p.Asp92Gly,ENST00000428931,NM_014847.3;UBAP2L,missense_variant,p.Asp92Gly,ENST00000361546,;UBAP2L,missense_variant,p.Asp92Gly,ENST00000613315,NM_001287815.1;UBAP2L,missense_variant,p.Asp92Gly,ENST00000343815,NM_001127320.2;UBAP2L,missense_variant,p.Asp92Gly,ENST00000368504,;UBAP2L,missense_variant,p.Asp92Gly,ENST00000412596,;UBAP2L,missense_variant,p.Asp92Gly,ENST00000437652,;UBAP2L,missense_variant,p.Asp92Gly,ENST00000456325,;UBAP2L,missense_variant,p.Asp92Gly,ENST00000441890,;	G	ENST00000428931	Transcript	missense_variant	442/3988	275/3264	92/1087	D/G	gAc/gGc		1		1	UBAP2L	HGNC	HGNC:29877	protein_coding	YES	CCDS1063.1	ENSP00000389445	Q14157		UPI000013E257	NM_014847.3	deleterious(0)		4/27		hmmpanther:PTHR16308,hmmpanther:PTHR16308:SF18,Superfamily_domains:SSF46934																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	1	154228721	154228721	A	G	1	0	0	0	0	1	0	0	0	17360	289	10	5		5	UBAP2L	1	154228721	Missense_Mutation	SNP	A	11LU013_TP	43774678	154228721	94727701	3	3											
PEAR1	0	.	GRCh38	chr1	156905362	156905362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccgtcaggtggtgaagaCggaccaccgccagcgcctgc	8	5	14	14	4	1	2	1	1	0	1	1	3	1	3	5	3	3	1	5	3	2	1	rs192672356		11LU013_TP	11LU013_NB	C	C																c.245C>T	p.Thr82Met	p.T82M	ENST00000338302	5/24	193	175	18	148	147	1	strelka-varscan-mutect	PEAR1,missense_variant,p.Thr82Met,ENST00000338302,;PEAR1,missense_variant,p.Thr82Met,ENST00000292357,NM_001080471.1;PEAR1,missense_variant,p.Thr82Met,ENST00000455314,;PEAR1,3_prime_UTR_variant,,ENST00000444016,;PEAR1,upstream_gene_variant,,ENST00000469390,;PEAR1,upstream_gene_variant,,ENST00000482505,;	T	ENST00000338302	Transcript	missense_variant	470/4970	245/3114	82/1037	T/M	aCg/aTg	rs192672356,COSM1162337	1		1	PEAR1	HGNC	HGNC:33631	protein_coding	YES	CCDS30892.1	ENSP00000344465	Q5VY43		UPI000045889A		tolerated(0.15)		5/24		PROSITE_profiles:PS51041,hmmpanther:PTHR24052,hmmpanther:PTHR24052:SF12											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs192672356	.												T	3	4	1	156905362	156905362	C	T	1	0	0	0	0	1	0	0	0	11801	536	19	1		1	PEAR1	1	156905362	Missense_Mutation	SNP	C	11LU013_TP	2676641	156905362	92051060	4	4											
LMX1A	0	.	GRCh38	chr1	165213729	165213729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttctcggacgtttggggCgcttatggtccttgccttcc	2	15	13	11	3	1	0	0	0	1	0	4	1	3	1	3	5	1	3	3	5	1	5			11LU013_TP	11LU013_NB	C	C																c.581G>A	p.Arg194His	p.R194H	ENST00000342310	5/9	410	352	58	342	342	0	strelka-varscan-mutect	LMX1A,missense_variant,p.Arg194His,ENST00000342310,NM_177398.3;LMX1A,missense_variant,p.Arg194His,ENST00000294816,NM_001174069.1;LMX1A,missense_variant,p.Arg194His,ENST00000367893,;RP11-38C18.2,downstream_gene_variant,,ENST00000457106,;RP11-38C18.3,upstream_gene_variant,,ENST00000441773,;RP11-38C18.3,upstream_gene_variant,,ENST00000426178,;LMX1A,upstream_gene_variant,,ENST00000489443,;	T	ENST00000342310	Transcript	missense_variant	964/3545	581/1149	194/382	R/H	cGc/cAc	COSM2088818	1		-1	LMX1A	HGNC	HGNC:6653	protein_coding	YES	CCDS1247.1	ENSP00000340226	Q8TE12		UPI000012E793	NM_177398.3	deleterious(0)		5/9		PROSITE_profiles:PS50071,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF88,Gene3D:1.10.10.60,Superfamily_domains:SSF46689											1						MODERATE	1	SNV	2		1	1										PASS		rs909983869	.												T	3	4	1	165213729	165213729	C	T	1	0	0	0	0	1	0	0	0	8788	768	27	1		1	LMX1A	1	165213729	Missense_Mutation	SNP	C	11LU013_TP	8308367	165213729	83742693	5	5											
TNR	0	.	GRCh38	chr1	175365050	175365050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggctcagaggtcactgtGccatggacagccacaaggtt	10	8	13	10	0	2	1	2	0	0	1	2	2	2	2	2	4	2	2	2	4	1	1	novel		11LU013_TP	11LU013_NB	G	G																c.2547C>T	p.=	p.G849G	ENST00000367674	12/23	116	101	15	87	87	0	strelka-varscan-mutect	TNR,synonymous_variant,p.=,ENST00000367674,;TNR,synonymous_variant,p.=,ENST00000263525,NM_003285.2;	A	ENST00000367674	Transcript	synonymous_variant	3256/12949	2547/4077	849/1358	G	ggC/ggT		1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C				12/23		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	1	175365050	175365050	G	A	1	0	0	0	0	0	0	0	1	16811	1306	46	3		3	TNR	1	175365050	Silent	SNP	G	11LU013_TP	10151321	175365050	73591372	6	6											
RNF2	0	.	GRCh38	chr1	185093072	185093072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatttagcaacaaagaatGtcctacctgtcggaaaaaac	16	11	6	8	1	0	1	0	0	0	1	2	2	1	2	2	1	4	1	2	1	9	5	novel		11LU013_TP	11LU013_NB	G	G																c.260G>A	p.Cys87Tyr	p.C87Y	ENST00000367510	4/7	103	93	10	218	217	1	strelka-varscan-mutect	RNF2,missense_variant,p.Cys87Tyr,ENST00000367510,NM_007212.3;RNF2,missense_variant,p.Cys87Tyr,ENST00000453650,;RNF2,intron_variant,,ENST00000367509,;RNF2,downstream_gene_variant,,ENST00000498201,;	A	ENST00000367510	Transcript	missense_variant	548/3606	260/1011	87/336	C/Y	tGt/tAt		1		1	RNF2	HGNC	HGNC:10061	protein_coding	YES	CCDS1365.1	ENSP00000356480	Q99496		UPI000007131D	NM_007212.3	deleterious(0)		4/7		Gene3D:3.30.40.10,Pfam_domain:PF13923,PROSITE_profiles:PS50089,hmmpanther:PTHR10825,hmmpanther:PTHR10825:SF41,SMART_domains:SM00184,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	1	185093072	185093072	G	A	1	0	0	0	0	1	0	0	0	13650	1377	48	3		3	RNF2	1	185093072	Missense_Mutation	SNP	G	11LU013_TP	9728022	185093072	63863350	7	7											
SLC30A10	0	.	GRCh38	chr1	219928165	219928165	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacgaagatggtgaagcaGagcgcggtgaggaagaccgc	12	4	16	9	4	0	5	0	2	0	3	1	7	1	6	2	3	2	1	2	3	3	0	novel		11LU013_TP	11LU013_NB	G	G																c.276C>G	p.=	p.L92L	ENST00000366926	1/4	641	594	47	475	475	0	strelka-varscan-mutect	SLC30A10,synonymous_variant,p.=,ENST00000366926,NM_018713.2;SLC30A10,intron_variant,,ENST00000484239,;SLC30A10,synonymous_variant,p.=,ENST00000356609,;	C	ENST00000366926	Transcript	synonymous_variant	438/1915	276/1458	92/485	L	ctC/ctG		1		-1	SLC30A10	HGNC	HGNC:25355	protein_coding	YES	CCDS31026.1	ENSP00000355893	Q6XR72		UPI000040E993	NM_018713.2			1/4		Superfamily_domains:0054606,Gene3D:3h90A01,Pfam_domain:PF01545,hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF14,TIGRFAM_domain:TIGR01297,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	1	219928165	219928165	G	C	1	0	0	0	0	0	0	0	1	14824	929	33	4		4	SLC30A10	1	219928165	Silent	SNP	G	11LU013_TP	34835093	219928165	29028257	8	8											
RYR2	0	.	GRCh38	chr1	237649933	237649933	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcggtacctttgcacagcCgtcttgccattgttaacaag	10	12	8	11	2	1	0	0	0	1	0	2	0	1	0	3	1	5	3	3	1	4	5	rs748943528		11LU013_TP	11LU013_NB	C	C																c.7569C>A	p.=	p.A2523A	ENST00000366574	50/105	183	147	36	157	157	0	strelka-varscan-mutect	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000360064,;	A	ENST00000366574	Transcript	synonymous_variant	7886/16562	7569/14904	2523/4967	A	gcC/gcA	rs748943528,COSM1473660,COSM5220405	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			50/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs748943528	.												A	2	1	1	237649933	237649933	C	A	1	0	0	0	0	0	0	0	1	14029	639	23	1		1	RYR2	1	237649933	Silent	SNP	C	11LU013_TP	17721768	237649933	11306489	9	9											
MARCH4	0	.	GRCh38	chr2	216277789	216277789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagccaagaaatactggCgatgaggaagagggagccca	15	4	15	7	1	0	4	0	2	0	2	0	8	0	6	2	3	3	0	2	3	4	1	rs367784136		11LU013_TP	11LU013_NB	C	C																c.748G>A	p.Ala250Thr	p.A250T	ENST00000273067	3/4	230	185	45	231	231	0	strelka-varscan	MARCH4,missense_variant,p.Ala250Thr,ENST00000273067,NM_020814.2;	T	ENST00000273067	Transcript	missense_variant	2515/4447	748/1233	250/410	A/T	Gcc/Acc	rs367784136,COSM1326434,COSM573605	1		-1	MARCH4	HGNC	HGNC:29269	protein_coding	YES	CCDS33376.1	ENSP00000273067	Q9P2E8		UPI00001C1DB9	NM_020814.2	deleterious(0.03)		3/4		hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF51,Transmembrane_helices:TMhelix											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		.	.												T	3	4	1	216277789	216277789	C	T	1	0	0	0	0	1	0	0	0	9228	768	27	1		1	MARCH4	2	216277789	Missense_Mutation	SNP	C	11LU013_TP		216277789	25915740	10	10											
ANO7	0	.	GRCh38	chr2	241203346	241203346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagggccccttcaagaCgcccccagagggcccgcagg	7	2	12	20	2	1	2	1	0	0	2	1	2	1	2	7	3	0	1	7	3	1	1	rs374614039		11LU013_TP	11LU013_NB	C	C																c.899C>T	p.Thr300Met	p.T300M	ENST00000274979	9/25	53	32	21	66	66	0	strelka-varscan-mutect	ANO7,missense_variant,p.Thr300Met,ENST00000274979,NM_001001891.3;ANO7,missense_variant,p.Thr299Met,ENST00000402430,;ANO7,downstream_gene_variant,,ENST00000475532,;	T	ENST00000274979	Transcript	missense_variant	1002/4128	899/2802	300/933	T/M	aCg/aTg	rs374614039	1		1	ANO7	HGNC	HGNC:31677	protein_coding	YES	CCDS33423.1	ENSP00000274979	Q6IWH7		UPI0000D612DB	NM_001001891.3	tolerated(0.34)		9/25		hmmpanther:PTHR12308:SF22,hmmpanther:PTHR12308,Pfam_domain:PF16178																	MODERATE	1	SNV	1			1										PASS		rs374614039	.												T	3	4	1	241203346	241203346	C	T	1	0	0	0	0	1	0	0	0	809	536	19	1		1	ANO7	2	241203346	Missense_Mutation	SNP	C	11LU013_TP	24925557	241203346	990183	11	11											
GOLGA4	0	.	GRCh38	chr3	37295045	37295046	+	In_Frame_Ins	INS	-	-	AAGATC																															tgatgcatctttagaggagaINSaagatcagtatatcagtgtt																								novel		11LU013_TP	11LU013_NB	-	-																c.717_722dupAGATCA	p.Asp240_Gln241dup	p.D240_Q241dup	ENST00000356847	7/23	50	37	13	161	161	0	sindel-varindel	GOLGA4,inframe_insertion,p.Asp218_Gln219dup,ENST00000361924,NM_002078.4;GOLGA4,inframe_insertion,p.Asp240_Gln241dup,ENST00000356847,NM_001172713.1;GOLGA4,inframe_insertion,p.Asp89_Gln90dup,ENST00000437131,;GOLGA4,inframe_insertion,p.Asp223_Gln224dup,ENST00000450863,;GOLGA4,inframe_insertion,p.Asp21_Gln22dup,ENST00000617480,;GOLGA4,intron_variant,,ENST00000429018,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,non_coding_transcript_exon_variant,,ENST00000435830,;GOLGA4,non_coding_transcript_exon_variant,,ENST00000419177,;	AAGATC	ENST00000356847	Transcript	inframe_insertion	1014-1015/7673	715-716/6732	239/2243	K/KDQ	aaa/aAAGATCaa		1		1	GOLGA4	HGNC	HGNC:4427	protein_coding	YES	CCDS54564.1	ENSP00000349305	Q13439		UPI000198C9CA	NM_001172713.1			7/23		hmmpanther:PTHR19327																	MODERATE	1	insertion	1	7		1										PASS		.	.												AAGATC	7	5	1	37295045	37295045	-	AAGATC	1	0	1	1	0	0	0	0	0	6433	247	9	0		0	GOLGA4	3	37295045	In_Frame_Ins	INS	-	11LU013_TP		37295045	161000514	12	12											
ANO10	0	.	GRCh38	chr3	43600486	43600486	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttctgcccctagtaacaTtctaatcttggaggcaccaa	10	12	7	12	0	3	0	0	0	3	0	3	1	3	1	3	2	3	3	3	2	4	6	novel		11LU013_TP	11LU013_NB	T	T																c.235A>T	p.Met79Leu	p.M79L	ENST00000292246	3/13	140	112	28	346	346	0	strelka-varscan-mutect	ANO10,missense_variant,p.Met79Leu,ENST00000292246,NM_018075.3;ANO10,missense_variant,p.Met79Leu,ENST00000414522,NM_001204831.1;ANO10,missense_variant,p.Met79Leu,ENST00000350459,NM_001204834.1;ANO10,missense_variant,p.Met79Leu,ENST00000427171,;ANO10,missense_variant,p.Met79Leu,ENST00000428831,;ANO10,missense_variant,p.Met79Leu,ENST00000444344,;ANO10,missense_variant,p.Met79Leu,ENST00000439141,;ANO10,missense_variant,p.Met79Leu,ENST00000456438,;ANO10,missense_variant,p.Met79Leu,ENST00000413397,;ANO10,intron_variant,,ENST00000396091,NM_001204832.1;ANO10,intron_variant,,ENST00000451430,NM_001204833.1;ANO10,intron_variant,,ENST00000428472,;	A	ENST00000292246	Transcript	missense_variant	406/3212	235/1983	79/660	M/L	Atg/Ttg		1		-1	ANO10	HGNC	HGNC:25519	protein_coding	YES	CCDS2710.2	ENSP00000292246	Q9NW15	A0A024R2S0	UPI000020A59A	NM_018075.3	tolerated(1)		3/13		hmmpanther:PTHR12308:SF40,hmmpanther:PTHR12308																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	1	43600486	43600486	T	A	1	0	0	0	0	1	0	0	0	803	1493	52	4		4	ANO10	3	43600486	Missense_Mutation	SNP	T	11LU013_TP	6305441	43600486	154695073	13	13											
RBM15B	0	.	GRCh38	chr3	51393138	51393138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggtgagcgttggggggCagatggagaccgtggtttgc	6	9	21	5	2	0	3	0	1	0	2	0	5	0	3	1	6	2	3	1	6	0	2	rs140480557		11LU013_TP	11LU013_NB	C	C																c.1739C>A	p.Ala580Glu	p.A580E	ENST00000563281	1/1	154	131	23	200	200	0	strelka-varscan-mutect	RBM15B,missense_variant,p.Ala580Glu,ENST00000563281,NM_013286.4;DCAF1,downstream_gene_variant,,ENST00000504652,NM_001171904.1;DCAF1,downstream_gene_variant,,ENST00000423656,NM_014703.2;DCAF1,downstream_gene_variant,,ENST00000335891,;MANF,downstream_gene_variant,,ENST00000528157,NM_006010.5;MANF,downstream_gene_variant,,ENST00000470900,;MANF,downstream_gene_variant,,ENST00000446668,;MANF,downstream_gene_variant,,ENST00000482262,;	A	ENST00000563281	Transcript	missense_variant	1871/6641	1739/2673	580/890	A/E	gCa/gAa	rs140480557	1		1	RBM15B	HGNC	HGNC:24303	protein_coding	YES	CCDS33764.1	ENSP00000454545	Q8NDT2		UPI0000160BDE	NM_013286.4	tolerated(1)		1/1		hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF40																	MODERATE		SNV				1										PASS		rs140480557	.												A	3	1	1	51393138	51393138	C	A	1	0	0	0	0	1	0	0	0	13283	710	25	2		2	RBM15B	3	51393138	Missense_Mutation	SNP	C	11LU013_TP	7792652	51393138	146902421	14	14											
FGB	0	.	GRCh38	chr4	154570631	154570631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgagtatgaagatcaggcCcttcttcccacagcaatagt	12	10	9	10	0	2	3	1	2	1	1	3	4	3	3	2	1	1	2	2	1	4	4	novel		11LU013_TP	11LU013_NB	C	C																c.1457C>T	p.Pro486Leu	p.P486L	ENST00000302068	8/8	399	370	29	567	566	1	strelka-varscan	FGB,missense_variant,p.Pro486Leu,ENST00000302068,NM_005141.4,NM_001184741.1;FGB,missense_variant,p.Pro267Leu,ENST00000509493,;FGB,non_coding_transcript_exon_variant,,ENST00000502545,;FGB,downstream_gene_variant,,ENST00000498375,;FGB,downstream_gene_variant,,ENST00000473984,;FGB,downstream_gene_variant,,ENST00000497097,;FGB,downstream_gene_variant,,ENST00000425838,;	T	ENST00000302068	Transcript	missense_variant	1520/1975	1457/1476	486/491	P/L	cCc/cTc		1		1	FGB	HGNC	HGNC:3662	protein_coding	YES	CCDS3786.1	ENSP00000306099	P02675	V9HVY1	UPI000012A778	NM_005141.4,NM_001184741.1	deleterious(0)		8/8		Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF203,SMART_domains:SM00186,Superfamily_domains:SSF56496																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	1	154570631	154570631	C	T	1	0	0	0	0	1	0	0	0	5695	623	22	3		3	FGB	4	154570631	Missense_Mutation	SNP	C	11LU013_TP		154570631	35643924	15	15											
TRIML2	0	.	GRCh38	chr4	188091633	188091633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggggggaagacccagaGagtccactcggtccccatca	11	4	13	13	1	1	3	1	0	0	3	4	5	3	4	4	4	0	0	4	4	1	0	novel		11LU013_TP	11LU013_NB	G	G																c.1054C>A	p.Leu352Ile	p.L352I	ENST00000512729	7/7	121	91	30	101	99	2	strelka-varscan	TRIML2,missense_variant,p.Leu352Ile,ENST00000512729,NM_173553.2;TRIML2,missense_variant,p.Leu337Ile,ENST00000326754,NM_001303419.1;TRIML2,3_prime_UTR_variant,,ENST00000503141,;TRIML2,3_prime_UTR_variant,,ENST00000503475,;	T	ENST00000512729	Transcript	missense_variant	1279/1639	1054/1314	352/437	L/I	Ctc/Atc		1		-1	TRIML2	HGNC	HGNC:26378	protein_coding	YES		ENSP00000422581	Q8N7C3		UPI000020B818	NM_173553.2	deleterious(0.02)		7/7		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF347,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	1	188091633	188091633	G	T	1	0	0	0	0	1	0	0	0	17048	942	33	2		2	TRIML2	4	188091633	Missense_Mutation	SNP	G	11LU013_TP	33521002	188091633	2122922	16	16											
NIM1K	0	.	GRCh38	chr5	43280190	43280190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgtggatatctgggccttgGgggtgcttttgtacttcatg	5	15	14	7	1	2	0	1	0	1	0	2	1	2	1	1	4	2	2	1	4	2	6			11LU013_TP	11LU013_NB	G	G																c.772G>T	p.Gly258Trp	p.G258W	ENST00000512796	4/4	242	227	15	179	179	0	strelka-varscan-mutect	NIM1K,missense_variant,p.Gly258Trp,ENST00000512796,;NIM1K,missense_variant,p.Gly258Trp,ENST00000326035,NM_153361.3;	T	ENST00000512796	Transcript	missense_variant	2271/2929	772/1311	258/436	G/W	Ggg/Tgg	COSM339195	1		1	NIM1K	HGNC	HGNC:28646	protein_coding	YES	CCDS3943.1	ENSP00000420849	Q8IY84		UPI0000035B5F		deleterious(0)		4/4		PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF0,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	1	43280190	43280190	G	T	1	0	0	0	0	1	0	0	0	10451	1232	43	2		2	NIM1K	5	43280190	Missense_Mutation	SNP	G	11LU013_TP		43280190	138258069	17	17											
PDE4D	0	.	GRCh38	chr5	59893368	59893368	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcagccccgggcggcggCgggggcggcggcaggggggg	2	0	27	12	7	0	0	0	0	0	0	0	0	0	0	2	11	1	2	2	11	0	0	novel		11LU013_TP	11LU013_NB	C	C																c.255G>A	p.=	p.P85P	ENST00000340635	1/15	100	82	18	76	76	0	strelka-varscan-mutect	PDE4D,synonymous_variant,p.=,ENST00000340635,NM_001104631.1;PDE4D,intron_variant,,ENST00000502484,NM_001165899.1;PDE4D,intron_variant,,ENST00000512069,;PDE4D,upstream_gene_variant,,ENST00000405053,;PDE4D,intron_variant,,ENST00000514231,;	T	ENST00000340635	Transcript	synonymous_variant	431/8232	255/2430	85/809	P	ccG/ccA		1		-1	PDE4D	HGNC	HGNC:8783	protein_coding	YES	CCDS47213.1	ENSP00000345502	Q08499	A0A140VJR0	UPI0000050EB1	NM_001104631.1			1/15		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1168292552	.												T	2	4	1	59893368	59893368	C	T	1	0	0	0	0	0	0	0	1	11730	755	27	1		1	PDE4D	5	59893368	Silent	SNP	C	11LU013_TP	16613178	59893368	121644891	18	18											
ENC1	0	.	GRCh38	chr5	74634852	74634858	+	Frame_Shift_Del	DEL	CCTCCAA	CCTCCAA	-																															atcgctgaatgccaaagtatCctccaaccacgtagagtttg																								novel		11LU013_TP	11LU013_NB	CCTCCAA	CCTCCAA																c.1628_1634delTTGGAGG	p.Val543AspfsTer18	p.V543Dfs*18	ENST00000618628	3/4	284	255	29	292	292	0	sindel-varindel-pindel	ENC1,frameshift_variant,p.Val543AspfsTer18,ENST00000618628,NM_001256574.1;ENC1,frameshift_variant,p.Val543AspfsTer18,ENST00000302351,NM_003633.3,NM_001256575.1;ENC1,frameshift_variant,p.Val470AspfsTer18,ENST00000510316,NM_001256576.1;ENC1,frameshift_variant,p.Val543AspfsTer18,ENST00000537006,;ENC1,downstream_gene_variant,,ENST00000508331,;ENC1,downstream_gene_variant,,ENST00000509127,;ENC1,upstream_gene_variant,,ENST00000509284,;	-	ENST00000618628	Transcript	frameshift_variant	2896-2902/5657	1628-1634/1770	543-545/589	VGG/X	gTTGGAGGa/ga		1		-1	ENC1	HGNC	HGNC:3345	protein_coding	YES	CCDS4021.1	ENSP00000479101	O14682	Q53XS2	UPI0000129EBB	NM_001256574.1			3/4		hmmpanther:PTHR24410:SF5,hmmpanther:PTHR24410,PIRSF_domain:PIRSF037037,Pfam_domain:PF01344,Gene3D:1zgkA00,SMART_domains:SM00612,Superfamily_domains:0052715																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	1	74634852	74634852	CCTCCAA	-	1	0	1	0	1	0	0	0	0	4955	855	30	0		0	ENC1	5	74634852	Frame_Shift_Del	DEL	CCTCCAA	11LU013_TP	14741484	74634852	106903407	19	19											
KDM3B	0	.	GRCh38	chr5	138417573	138417573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcagtcgacagaacaaatCtgtattgagacctgccgtca	13	10	8	10	2	3	2	2	1	1	2	4	4	3	2	2	0	2	1	2	0	4	3	novel		11LU013_TP	11LU013_NB	C	C																c.3398C>T	p.Ser1133Phe	p.S1133F	ENST00000314358	13/24	185	171	14	175	175	0	strelka-varscan-mutect	KDM3B,missense_variant,p.Ser1133Phe,ENST00000314358,NM_016604.3;KDM3B,missense_variant,p.Ser131Phe,ENST00000542866,;KDM3B,upstream_gene_variant,,ENST00000508386,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;	T	ENST00000314358	Transcript	missense_variant	3598/6813	3398/5286	1133/1761	S/F	tCt/tTt		1		1	KDM3B	HGNC	HGNC:1337	protein_coding	YES	CCDS34242.1	ENSP00000326563	Q7LBC6		UPI000020C6A8	NM_016604.3	tolerated(0.13)		13/24		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	1	138417573	138417573	C	T	1	0	0	0	0	1	0	0	0	8045	913	32	3		3	KDM3B	5	138417573	Missense_Mutation	SNP	C	11LU013_TP	63782721	138417573	43120686	20	20											
PCDHB15	0	.	GRCh38	chr5	141247523	141247523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctggtcaaggacaatggcGagcctccgcgctcggccacc	7	6	13	15	4	1	0	1	0	0	0	3	2	2	1	4	4	2	2	4	4	2	0	novel		11LU013_TP	11LU013_NB	G	G																c.1945G>A	p.Glu649Lys	p.E649K	ENST00000231173	1/1	799	556	243	764	764	0	strelka-varscan-mutect	PCDHB15,missense_variant,p.Glu649Lys,ENST00000231173,NM_018935.3;PCDHB15,downstream_gene_variant,,ENST00000623671,;CH17-140K24.8,downstream_gene_variant,,ENST00000624396,;CH17-140K24.2,upstream_gene_variant,,ENST00000624560,;PCDHB19P,downstream_gene_variant,,ENST00000625133,;	A	ENST00000231173	Transcript	missense_variant	2175/4017	1945/2364	649/787	E/K	Gag/Aag		1		1	PCDHB15	HGNC	HGNC:8686	protein_coding	YES	CCDS4257.1	ENSP00000231173	Q9Y5E8		UPI00001273E8	NM_018935.3	deleterious_low_confidence(0.01)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF97,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												A	3	1	1	141247523	141247523	G	A	1	0	0	0	0	1	0	0	0	11627	1059	37	1		1	PCDHB15	5	141247523	Missense_Mutation	SNP	G	11LU013_TP	2829950	141247523	40290736	21	21											
PCDHGA2	0	.	GRCh38	chr5	141340924	141340924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatccaggaccacggccaGccccctctctccgccactgt	6	6	8	21	2	1	0	0	0	1	0	4	1	3	1	8	2	1	0	8	2	0	0			11LU013_TP	11LU013_NB	G	G																c.1953G>T	p.Gln651His	p.Q651H	ENST00000394576	1/4	604	536	68	568	568	0	varscan-mutect	PCDHGA2,missense_variant,p.Gln651His,ENST00000394576,NM_018915.3;PCDHGA2,missense_variant,p.Gln651His,ENST00000528330,NM_032009.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3;PCDHGA3,upstream_gene_variant,,ENST00000619750,NM_032011.1;PCDHGA3,upstream_gene_variant,,ENST00000612467,;	T	ENST00000394576	Transcript	missense_variant	1953/4605	1953/2799	651/932	Q/H	caG/caT	COSM590207,COSM590208	1		1	PCDHGA2	HGNC	HGNC:8700	protein_coding	YES	CCDS47289.1	ENSP00000378077	Q9Y5H1		UPI0000072E67	NM_018915.3	deleterious_low_confidence(0.01)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF134,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	1	141340924	141340924	G	T	1	0	0	0	0	1	0	0	0	11641	962	34	2		2	PCDHGA2	5	141340924	Missense_Mutation	SNP	G	11LU013_TP	93401	141340924	40197335	22	22											
ARAP3	0	.	GRCh38	chr5	141673114	141673114	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggcagtcaaaggtatcAcacccttagggaaggggtcc	12	7	12	10	0	2	0	2	0	0	0	3	1	3	1	2	5	0	2	2	5	5	2	novel		11LU013_TP	11LU013_NB	A	A																c.992T>A	p.Val331Glu	p.V331E	ENST00000239440	7/33	202	176	26	196	196	0	strelka-varscan-mutect	ARAP3,missense_variant,p.Val331Glu,ENST00000239440,NM_022481.5;ARAP3,missense_variant,p.Val253Glu,ENST00000626478,;ARAP3,missense_variant,p.Val253Glu,ENST00000508305,;ARAP3,missense_variant,p.Val331Glu,ENST00000504448,;ARAP3,5_prime_UTR_variant,,ENST00000513878,;ARAP3,non_coding_transcript_exon_variant,,ENST00000524066,;	T	ENST00000239440	Transcript	missense_variant	1058/5250	992/4635	331/1544	V/E	gTg/gAg		1		-1	ARAP3	HGNC	HGNC:24097	protein_coding	YES	CCDS4266.1	ENSP00000239440	Q8WWN8		UPI0000049886	NM_022481.5	deleterious(0)		7/33		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	1	141673114	141673114	A	T	1	0	0	0	0	1	0	0	0	962	159	6	4		4	ARAP3	5	141673114	Missense_Mutation	SNP	A	11LU013_TP	332190	141673114	39865145	23	23											
PLA2G7	0	.	GRCh38	chr6	46704694	46704694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcaaaatctttatgaaGtcctataaaatataaagtgt	17	14	5	5	0	2	2	1	2	1	0	3	2	3	2	1	0	0	0	1	0	10	6	novel		11LU013_TP	11LU013_NB	G	G																c.1192C>T	p.Leu398Phe	p.L398F	ENST00000274793	12/12	49	41	8	146	146	0	strelka-varscan-mutect	PLA2G7,missense_variant,p.Leu398Phe,ENST00000274793,NM_005084.3;PLA2G7,missense_variant,p.Leu398Phe,ENST00000537365,NM_001168357.1;TDRD6,downstream_gene_variant,,ENST00000544460,NM_001168359.1;TDRD6,downstream_gene_variant,,ENST00000316081,NM_001010870.2;TDRD6,downstream_gene_variant,,ENST00000450697,;	A	ENST00000274793	Transcript	missense_variant,splice_region_variant	1389/1882	1192/1326	398/441	L/F	Ctt/Ttt		1		-1	PLA2G7	HGNC	HGNC:9040	protein_coding	YES	CCDS4917.1	ENSP00000274793	Q13093		UPI000002FED1	NM_005084.3	deleterious(0)		12/12		Gene3D:3.40.50.1820,Pfam_domain:PF03403,PIRSF_domain:PIRSF018169,hmmpanther:PTHR10272,hmmpanther:PTHR10272:SF12,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	1	46704694	46704694	G	A	1	0	0	0	0	1	0	0	0	12105	1043	36	3		3	PLA2G7	6	46704694	Missense_Mutation	SNP	G	11LU013_TP		46704694	124101285	24	24											
FAM184A	0	.	GRCh38	chr6	118960165	118960165	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggagaagccactggagAagcttcactctgagcaggac	12	7	12	10	0	3	3	1	1	2	2	3	6	3	4	1	3	3	2	1	3	2	1	novel		11LU013_TP	11LU013_NB	A	A																c.3361T>G	p.Ser1121Ala	p.S1121A	ENST00000338891	18/18	177	119	58	168	168	0	strelka-varscan-mutect	FAM184A,missense_variant,p.Ser1121Ala,ENST00000338891,NM_024581.5;FAM184A,missense_variant,p.Ser1079Ala,ENST00000621231,;FAM184A,missense_variant,p.Ser952Ala,ENST00000352896,NM_001100411.2;FAM184A,missense_variant,p.Ser917Ala,ENST00000368475,NM_001288576.1;FAM184A,missense_variant,p.Ser1037Ala,ENST00000521531,;FAM184A,missense_variant,p.Ser249Ala,ENST00000521043,;FAM184A,missense_variant,p.Ser146Ala,ENST00000368472,;FAM184A,missense_variant,p.Ser55Ala,ENST00000481884,;FAM184A,missense_variant,p.Ser51Ala,ENST00000517987,;FAM184A,3_prime_UTR_variant,,ENST00000617072,;RP11-351A11.1,intron_variant,,ENST00000518570,;FAM184A,3_prime_UTR_variant,,ENST00000475529,;FAM184A,non_coding_transcript_exon_variant,,ENST00000482219,;	C	ENST00000338891	Transcript	missense_variant	3805/4141	3361/3423	1121/1140	S/A	Tct/Gct		1		-1	FAM184A	HGNC	HGNC:20991	protein_coding	YES	CCDS43499.1	ENSP00000342604	Q8NB25		UPI0000470B36	NM_024581.5	tolerated(0.22)		18/18		hmmpanther:PTHR18870:SF7,hmmpanther:PTHR18870																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	1	118960165	118960165	A	C	1	0	0	0	0	1	0	0	0	5358	246	9	5		5	FAM184A	6	118960165	Missense_Mutation	SNP	A	11LU013_TP	72255471	118960165	51845814	25	25											
FKBP9	0	.	GRCh38	chr7	32976452	32976452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgtgtgggtgagaagcGcatcatcaccattcctcctt	8	12	11	10	1	2	1	2	1	0	1	4	3	4	1	3	1	1	1	3	1	1	2	rs781596802		11LU013_TP	11LU013_NB	G	G																c.815G>A	p.Arg272His	p.R272H	ENST00000538336	5/11	311	177	134	145	144	1	strelka-varscan	FKBP9,missense_variant,p.Arg272His,ENST00000538336,NM_001284341.1;FKBP9,missense_variant,p.Arg219His,ENST00000242209,NM_007270.4;FKBP9,upstream_gene_variant,,ENST00000490776,NM_001284343.1;FKBP9,upstream_gene_variant,,ENST00000418354,;FKBP9,non_coding_transcript_exon_variant,,ENST00000489038,;FKBP9,non_coding_transcript_exon_variant,,ENST00000469202,;FKBP9,non_coding_transcript_exon_variant,,ENST00000472007,;FKBP9,downstream_gene_variant,,ENST00000464334,;FKBP9,upstream_gene_variant,,ENST00000463443,;FKBP9,non_coding_transcript_exon_variant,,ENST00000494374,;FKBP9,downstream_gene_variant,,ENST00000485309,;	A	ENST00000538336	Transcript	missense_variant	985/3621	815/1872	272/623	R/H	cGc/cAc	rs781596802,COSM77722	1		1	FKBP9	HGNC	HGNC:3725	protein_coding	YES	CCDS64622.1	ENSP00000439250	O95302		UPI0001914EC6	NM_001284341.1	deleterious(0)		5/11		PROSITE_profiles:PS50059,hmmpanther:PTHR10516:SF111,hmmpanther:PTHR10516,Pfam_domain:PF00254,Gene3D:3.10.50.40,Superfamily_domains:SSF54534											0,1						MODERATE	1	SNV	2		0,1	1										PASS		.	.												A	3	1	1	32976452	32976452	G	A	1	0	0	0	0	1	0	0	0	5778	1087	38	1		1	FKBP9	7	32976452	Missense_Mutation	SNP	G	11LU013_TP		32976452	126369521	26	26											
EGFR	0	.	GRCh38	chr7	55174774	55174791	+	In_Frame_Del	DEL	AATTAAGAGAAGCAACAT	AATTAAGAGAAGCAACAT	-																															aattcccgtcgctatcaaggAattaagagaagcaacatctc																								rs121913422		11LU013_TP	11LU013_NB	AATTAAGAGAAGCAACAT	AATTAAGAGAAGCAACAT																c.2237_2254delAATTAAGAGAAGCAACAT	p.Glu746_Ser752delinsAla	p.E746_S752delinsA	ENST00000275493	19/28	7272	441	6831	755	755	0	sindel-varindel	EGFR,inframe_deletion,p.Glu746_Ser752delinsAla,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Glu701_Ser707delinsAla,ENST00000454757,;EGFR,inframe_deletion,p.Glu701_Ser707delinsAla,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	-	ENST00000275493	Transcript	inframe_deletion	2414-2431/9821	2237-2254/3633	746-752/1210	ELREATS/A	gAATTAAGAGAAGCAACATct/gct	rs121913422,COSM12367	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1						MODERATE	1	deletion	1		1,1	1										PASS		.	.												-	7	5	1	55174774	55174774	AATTAAGAGAAGCAACAT	-	1	0	1	0	1	0	0	0	0	4803	246	9	0		0	EGFR	7	55174774	In_Frame_Del	DEL	AATTAAGAGAAGCAACAT	11LU013_TP	22198322	55174774	104171199	27	27			1	1		2	2	19	N	C_AATTAAGAGAAGCAACAT	3.263913e-05
EGFR	0	.	GRCh38	chr7	55174792	55174792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaattaagagaagcaacatCtccgaaagccaacaaggaaa	20	4	9	8	1	1	1	0	0	1	1	2	5	1	3	2	2	4	1	2	2	8	1	rs121913464		11LU013_TP	11LU013_NB	C	C																c.2255C>T	p.Ser752Phe	p.S752F	ENST00000275493	19/28	8133	426	7707	642	641	1	strelka-varscan-mutect	EGFR,missense_variant,p.Ser752Phe,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ser707Phe,ENST00000454757,;EGFR,missense_variant,p.Ser707Phe,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	T	ENST00000275493	Transcript	missense_variant	2432/9821	2255/3633	752/1210	S/F	tCt/tTt	rs121913464,COSM13186,COSM4170219	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs121913464	.												T	3	4	1	55174792	55174792	C	T	1	0	0	0	0	1	0	0	0	4803	913	32	3		3	EGFR	7	55174792	Missense_Mutation	SNP	C	11LU013_TP	18	55174792	104171181	28	28			1	1		2	2	19	N	C_AATTAAGAGAAGCAACAT	3.263913e-05
HEPACAM2	0	.	GRCh38	chr7	93215550	93215550	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaggtggagctggtgtggAcaggtctcccattttttagc	7	13	14	7	0	1	0	0	0	1	0	2	2	1	2	1	5	2	2	1	5	2	4	novel		11LU013_TP	11LU013_NB	A	A																c.635T>C	p.Val212Ala	p.V212A	ENST00000453812	4/11	486	439	47	364	364	0	strelka-varscan	HEPACAM2,missense_variant,p.Val189Ala,ENST00000394468,NM_001039372.2;HEPACAM2,missense_variant,p.Val177Ala,ENST00000341723,NM_198151.2;HEPACAM2,missense_variant,p.Val177Ala,ENST00000440868,NM_001288810.1;HEPACAM2,missense_variant,p.Val212Ala,ENST00000453812,NM_001288804.1;	G	ENST00000453812	Transcript	missense_variant	658/1869	635/1458	212/485	V/A	gTc/gCc		1		-1	HEPACAM2	HGNC	HGNC:27364	protein_coding	YES	CCDS75632.1	ENSP00000390204	A8MVW5		UPI000198CEF3	NM_001288804.1	deleterious(0.01)		4/11		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	1	93215550	93215550	A	G	1	0	0	0	0	1	0	0	0	6937	275	10	5		5	HEPACAM2	7	93215550	Missense_Mutation	SNP	A	11LU013_TP	38040758	93215550	66130423	29	29											
CPA1	0	.	GRCh38	chr7	130381164	130381164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggtgaaggagctggaggaCctggagcacctgcaggtcag	11	5	17	8	0	1	1	1	1	0	0	1	5	1	5	2	6	3	3	2	6	2	0	novel		11LU013_TP	11LU013_NB	C	C																c.132C>A	p.Asp44Glu	p.D44E	ENST00000011292	2/10	226	177	49	183	183	0	strelka-varscan-mutect	CPA1,missense_variant,p.Asp44Glu,ENST00000011292,NM_001868.3;CPA1,5_prime_UTR_variant,,ENST00000484324,;CPA1,5_prime_UTR_variant,,ENST00000476062,;CPA1,5_prime_UTR_variant,,ENST00000481342,;CPA1,intron_variant,,ENST00000604896,;CPA1,non_coding_transcript_exon_variant,,ENST00000491460,;CPA1,upstream_gene_variant,,ENST00000479106,;CPA1,upstream_gene_variant,,ENST00000478096,;CPA1,upstream_gene_variant,,ENST00000470838,;	A	ENST00000011292	Transcript	missense_variant	282/1487	132/1260	44/419	D/E	gaC/gaA		1		1	CPA1	HGNC	HGNC:2296	protein_coding	YES	CCDS5820.1	ENSP00000011292	P15085		UPI000004D332	NM_001868.3	tolerated(0.91)		2/10		hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF74,Gene3D:3.30.70.340,Pfam_domain:PF02244,Superfamily_domains:SSF54897,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	1	130381164	130381164	C	A	1	0	0	0	0	1	0	0	0	3583	506	18	2		2	CPA1	7	130381164	Missense_Mutation	SNP	C	11LU013_TP	37165614	130381164	28964809	30	30											
LRP12	0	.	GRCh38	chr8	104498045	104498045	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattaccacaacgaaactgAtcacaagcacaatttggttc	15	9	5	12	1	1	1	1	1	0	0	2	2	1	1	2	1	4	2	2	1	5	3	novel		11LU013_TP	11LU013_NB	A	A																c.507T>C	p.=	p.D169D	ENST00000276654	5/7	138	124	14	66	66	0	strelka-varscan-mutect	LRP12,synonymous_variant,p.=,ENST00000276654,NM_013437.4;LRP12,synonymous_variant,p.=,ENST00000424843,NM_001135703.2;LRP12,upstream_gene_variant,,ENST00000523007,;LRP12,non_coding_transcript_exon_variant,,ENST00000520770,;LRP12,upstream_gene_variant,,ENST00000518375,;LRP12,upstream_gene_variant,,ENST00000522046,;	G	ENST00000276654	Transcript	synonymous_variant	616/4112	507/2580	169/859	D	gaT/gaC		1		-1	LRP12	HGNC	HGNC:31708	protein_coding	YES	CCDS6303.1	ENSP00000276654	Q9Y561		UPI0000047A9F	NM_013437.4			5/7		Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF216,SMART_domains:SM00192,Superfamily_domains:SSF57424																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	1	104498045	104498045	A	G	1	0	0	0	0	0	0	0	1	8849	330	12	5		5	LRP12	8	104498045	Silent	SNP	A	11LU013_TP		104498045	40640591	31	31											
OXR1	0	.	GRCh38	chr8	106706942	106706942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgccttgtggggaaacagCagaatttaaacaaaagcaaa	18	8	9	6	0	0	1	0	0	0	1	0	2	0	2	1	2	5	2	1	2	8	4	novel		11LU013_TP	11LU013_NB	C	C																c.1424C>T	p.Ala475Val	p.A475V	ENST00000442977	8/16	348	315	33	277	277	0	strelka-varscan-mutect	OXR1,missense_variant,p.Ala474Val,ENST00000517566,NM_001198533.1;OXR1,missense_variant,p.Ala467Val,ENST00000312046,NM_181354.4;OXR1,missense_variant,p.Ala474Val,ENST00000531443,NM_018002.3;OXR1,missense_variant,p.Ala475Val,ENST00000442977,NM_001198532.1;OXR1,missense_variant,p.Ala188Val,ENST00000519415,;OXR1,missense_variant,p.Ala407Val,ENST00000497705,;OXR1,downstream_gene_variant,,ENST00000517455,;OXR1,3_prime_UTR_variant,,ENST00000438229,;OXR1,intron_variant,,ENST00000435082,;	T	ENST00000442977	Transcript	missense_variant	1523/2956	1424/2625	475/874	A/V	gCa/gTa		1		1	OXR1	HGNC	HGNC:15822	protein_coding	YES	CCDS56548.1	ENSP00000405424	Q8N573		UPI0001914BEA	NM_001198532.1	tolerated(0.49)		8/16		hmmpanther:PTHR23354:SF69,hmmpanther:PTHR23354																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	1	106706942	106706942	C	T	1	0	0	0	0	1	0	0	0	11407	710	25	3		3	OXR1	8	106706942	Missense_Mutation	SNP	C	11LU013_TP	2208897	106706942	38431694	32	32											
AGPAT2	0	.	GRCh38	chr9	136687321	136687321	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcaccagcagcagcagcaAcagcagcgccgcggccagac	11	1	12	17	3	0	1	0	0	0	1	0	1	0	1	3	1	8	6	3	1	1	0	rs756247321		11LU013_TP	11LU013_NB	A	A																c.37T>C	p.=	p.L13L	ENST00000371696	1/6	224	208	16	224	220	4	varscan-mutect	AGPAT2,synonymous_variant,p.=,ENST00000371696,NM_006412.3;AGPAT2,synonymous_variant,p.=,ENST00000371694,NM_001012727.1;AGPAT2,synonymous_variant,p.=,ENST00000538402,;AGPAT2,non_coding_transcript_exon_variant,,ENST00000470861,;	G	ENST00000371696	Transcript	synonymous_variant	103/1512	37/837	13/278	L	Ttg/Ctg	rs756247321,COSM5639546	1		-1	AGPAT2	HGNC	HGNC:325	protein_coding	YES	CCDS7003.1	ENSP00000360761	O15120	A0A024R8I7	UPI0000131BD3	NM_006412.3			1/6		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR10434,hmmpanther:PTHR10434:SF2											0,1						LOW	1	SNV	1		0,1	1										PASS		rs756247321	.												G	2	3	1	136687321	136687321	A	G	1	0	0	0	0	0	0	0	1	469	40	2	5		5	AGPAT2	9	136687321	Silent	SNP	A	11LU013_TP		136687321	1707396	33	33											
GTPBP4	0	.	GRCh38	chr10	988526	988526	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacggtggtgccgtccgccaAggtaggcggccccgggaggg	5	5	19	12	5	0	0	0	0	0	0	1	1	1	1	5	7	2	1	5	7	3	2	rs201885506		11LU013_TP	11LU013_NB	A	A																c.47A>G	p.Lys16Arg	p.K16R	ENST00000360803	1/17	213	191	22	200	200	0	strelka-varscan-mutect	GTPBP4,missense_variant,p.Lys16Arg,ENST00000360803,NM_012341.2;GTPBP4,upstream_gene_variant,,ENST00000360059,;RP11-363N22.3,upstream_gene_variant,,ENST00000381466,;GTPBP4,splice_region_variant,,ENST00000491635,;RP11-363N22.3,upstream_gene_variant,,ENST00000615314,;	G	ENST00000360803	Transcript	missense_variant,splice_region_variant	508/5075	47/1905	16/634	K/R	aAg/aGg	rs201885506	1		1	GTPBP4	HGNC	HGNC:21535	protein_coding	YES	CCDS31132.1	ENSP00000354040	Q9BZE4	D2CFK9	UPI000000D960	NM_012341.2	deleterious(0.03)		1/17		hmmpanther:PTHR11702:SF4,hmmpanther:PTHR11702,PIRSF_domain:PIRSF038919																	MODERATE	1	SNV	1			1										PASS		rs201885506	.												G	3	3	1	988526	988526	A	G	1	0	0	0	0	1	0	0	0	6763	86	3	5		5	GTPBP4	10	988526	Missense_Mutation	SNP	A	11LU013_TP		988526	132808896	34	34											
MBL2	0	.	GRCh38	chr10	52768158	52768158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatagggaactcacagacGgccagatgggaggtggagca	13	4	16	8	1	1	3	1	0	0	3	1	6	1	6	1	5	2	1	1	5	2	1	rs139905034		11LU013_TP	11LU013_NB	G	G																c.726C>T	p.=	p.A242A	ENST00000373968	4/4	70	59	11	54	54	0	strelka-varscan-mutect	MBL2,synonymous_variant,p.=,ENST00000373968,NM_000242.2;	A	ENST00000373968	Transcript	synonymous_variant	791/3569	726/747	242/248	A	gcC/gcT	rs139905034	1		-1	MBL2	HGNC	HGNC:6922	protein_coding	YES	CCDS7247.1	ENSP00000363079	P11226		UPI0000035011	NM_000242.2			4/4		PROSITE_profiles:PS50041,hmmpanther:PTHR24020,PROSITE_patterns:PS00615,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	LOW	1	SNV	1			1										PASS		rs139905034	.												A	2	1	1	52768158	52768158	G	A	1	0	0	0	0	0	0	0	1	9282	1103	39	1		1	MBL2	10	52768158	Silent	SNP	G	11LU013_TP	51779632	52768158	81029264	35	35											
OR52A1	0	.	GRCh38	chr11	5151676	5151676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacctagcctccttctgggGcaaacgaaaaactgtgataa	15	8	8	10	1	1	1	0	1	1	0	2	2	2	1	3	2	4	1	3	2	6	3	novel		11LU013_TP	11LU013_NB	G	G																c.694C>A	p.Pro232Thr	p.P232T	ENST00000380367	2/2	183	166	17	298	298	0	strelka-varscan-mutect	OR52A1,missense_variant,p.Pro232Thr,ENST00000380367,;OR52A1,missense_variant,p.Pro232Thr,ENST00000328942,NM_012375.2;	T	ENST00000380367	Transcript	missense_variant	1112/1779	694/939	232/312	P/T	Ccc/Acc		1		-1	OR52A1	HGNC	HGNC:8318	protein_coding	YES	CCDS31374.1	ENSP00000369725	Q9UKL2		UPI0000140B1E		deleterious(0)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF98,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1434373052	.												T	3	4	1	5151676	5151676	G	T	1	0	0	0	0	1	0	0	0	11182	1203	42	2		2	OR52A1	11	5151676	Missense_Mutation	SNP	G	11LU013_TP		5151676	129934946	36	36											
RAB30	0	.	GRCh38	chr11	82987749	82987749	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccgaaatctctcttgacCtgctgtgtcccagatctgta	8	12	9	12	1	3	2	0	1	3	1	5	4	4	3	3	1	1	2	3	1	2	2	novel		11LU013_TP	11LU013_NB	C	C																c.199G>C	p.Gly67Arg	p.G67R	ENST00000533486	5/6	168	156	12	143	143	0	strelka-varscan-mutect	RAB30,missense_variant,p.Gly67Arg,ENST00000533486,NM_014488.4,NM_001286060.1;RAB30,missense_variant,p.Gly67Arg,ENST00000612684,NM_001286061.1;RAB30,missense_variant,p.Gly67Arg,ENST00000534141,;RAB30,missense_variant,p.Gly67Arg,ENST00000260056,NM_001286059.1;RAB30,missense_variant,p.Gly39Arg,ENST00000525117,;RAB30,missense_variant,p.Gly67Arg,ENST00000527633,;RAB30,missense_variant,p.Gly67Arg,ENST00000534103,;RAB30,missense_variant,p.Gly67Arg,ENST00000532548,;RAB30,missense_variant,p.Gly67Arg,ENST00000526205,;RAB30,missense_variant,p.Gly67Arg,ENST00000531021,;RAB30,missense_variant,p.Gly31Arg,ENST00000533014,;RAB30,missense_variant,p.Gly67Arg,ENST00000534301,;RAB30,missense_variant,p.Gly21Arg,ENST00000524635,;RAB30,downstream_gene_variant,,ENST00000530224,;RP11-659G9.3,intron_variant,,ENST00000527550,;	G	ENST00000533486	Transcript	missense_variant	484/9929	199/612	67/203	G/R	Ggt/Cgt		1		-1	RAB30	HGNC	HGNC:9770	protein_coding	YES	CCDS8264.1	ENSP00000435189	Q15771	A8K5R1	UPI000002356C	NM_014488.4,NM_001286060.1	deleterious(0)		5/6		PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF408,hmmpanther:PTHR24073,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	1	82987749	82987749	C	G	1	0	0	0	0	1	0	0	0	13078	681	24	4		4	RAB30	11	82987749	Missense_Mutation	SNP	C	11LU013_TP	77836073	82987749	52098873	37	37											
ROBO4	0	.	GRCh38	chr11	124895457	124895457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggatcaggccctgacCtttttccggcagcctcagga	8	9	12	12	1	2	2	2	2	0	0	3	4	3	4	4	4	1	1	4	4	1	2	novel		11LU013_TP	11LU013_NB	C	C																c.1036G>C	p.Val346Leu	p.V346L	ENST00000306534	6/18	95	88	7	78	78	0	strelka-varscan-mutect	ROBO4,missense_variant,p.Val346Leu,ENST00000306534,NM_019055.5;ROBO4,missense_variant,p.Val201Leu,ENST00000533054,NM_001301088.1;RP11-664I21.6,downstream_gene_variant,,ENST00000524433,;ROBO4,downstream_gene_variant,,ENST00000526899,;ROBO4,downstream_gene_variant,,ENST00000527279,;ROBO4,downstream_gene_variant,,ENST00000529941,;ROBO4,upstream_gene_variant,,ENST00000534407,;ROBO4,upstream_gene_variant,,ENST00000532216,;ROBO4,upstream_gene_variant,,ENST00000525182,;ROBO4,downstream_gene_variant,,ENST00000533337,;ROBO4,downstream_gene_variant,,ENST00000532300,;	G	ENST00000306534	Transcript	missense_variant,splice_region_variant	1522/4710	1036/3024	346/1007	V/L	Gtg/Ctg		1		-1	ROBO4	HGNC	HGNC:17985	protein_coding	YES	CCDS8455.1	ENSP00000304945	Q8WZ75		UPI000004A023	NM_019055.5	deleterious(0)		6/18		hmmpanther:PTHR10489,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs1281608574	.												G	3	3	1	124895457	124895457	C	G	1	0	0	0	0	1	0	0	0	13694	695	24	4		4	ROBO4	11	124895457	Missense_Mutation	SNP	C	11LU013_TP	41907708	124895457	10191165	38	38											
CD163	0	.	GRCh38	chr12	7485373	7485373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttccagacgccctgcacaGgcctctctgctggcttcact	6	10	8	17	1	2	1	1	0	1	1	4	1	3	1	3	2	2	3	3	2	0	2	novel		11LU013_TP	11LU013_NB	G	G																c.2502C>T	p.=	p.A834A	ENST00000359156	11/17	280	227	53	157	157	0	strelka-varscan-mutect	CD163,synonymous_variant,p.=,ENST00000359156,NM_004244.5;CD163,synonymous_variant,p.=,ENST00000396620,;CD163,synonymous_variant,p.=,ENST00000432237,NM_203416.3;CD163,synonymous_variant,p.=,ENST00000541972,;CD163,upstream_gene_variant,,ENST00000537626,;CD163,upstream_gene_variant,,ENST00000542280,;CD163,upstream_gene_variant,,ENST00000539632,;CD163,non_coding_transcript_exon_variant,,ENST00000537044,;CD163,non_coding_transcript_exon_variant,,ENST00000538840,;	A	ENST00000359156	Transcript	synonymous_variant	2705/4268	2502/3471	834/1156	A	gcC/gcT		1		-1	CD163	HGNC	HGNC:1631	protein_coding	YES	CCDS8578.1	ENSP00000352071	Q86VB7		UPI00004565CC	NM_004244.5			11/17		Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF324,SMART_domains:SM00202,Superfamily_domains:SSF56487																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	1	7485373	7485373	G	A	1	0	0	0	0	0	0	0	1	2670	987	35	3		3	CD163	12	7485373	Silent	SNP	G	11LU013_TP		7485373	125789936	39	39											
CALCOCO1	0	.	GRCh38	chr12	53714677	53714677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctgtcagctcccgcttaCtttctgacaactgtacctga	7	13	7	14	1	3	2	1	2	2	0	4	2	4	2	2	0	4	4	2	0	3	3	novel		11LU013_TP	11LU013_NB	C	C																c.1403G>A	p.Ser468Asn	p.S468N	ENST00000550804	11/15	198	118	80	155	155	0	strelka-varscan-mutect	CALCOCO1,missense_variant,p.Ser468Asn,ENST00000262059,;CALCOCO1,missense_variant,p.Ser468Asn,ENST00000548263,;CALCOCO1,missense_variant,p.Ser383Asn,ENST00000430117,NM_001143682.1;CALCOCO1,missense_variant,p.Ser468Asn,ENST00000550804,NM_020898.2;CALCOCO1,upstream_gene_variant,,ENST00000546443,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000549935,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000549613,;CALCOCO1,downstream_gene_variant,,ENST00000552282,;	T	ENST00000550804	Transcript	missense_variant	1464/2291	1403/2076	468/691	S/N	aGt/aAt		1		-1	CALCOCO1	HGNC	HGNC:29306	protein_coding	YES	CCDS8864.1	ENSP00000449960	Q9P1Z2	A0A024RAZ1	UPI0000037D7A	NM_020898.2	tolerated(0.26)		11/15		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF07888,hmmpanther:PTHR31915,hmmpanther:PTHR31915:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	1	53714677	53714677	C	T	1	0	0	0	0	1	0	0	0	2267	565	20	3		3	CALCOCO1	12	53714677	Missense_Mutation	SNP	C	11LU013_TP	46229304	53714677	79560632	40	40											
ARHGAP5	0	.	GRCh38	chr14	32092134	32092134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagttgaaaaagccaaagaaGagtttcaagaaatgcttttt	17	12	8	4	0	1	4	1	1	0	3	1	4	1	4	1	0	2	3	1	0	7	5	rs78337553		11LU013_TP	11LU013_NB	G	G																c.1465G>A	p.Glu489Lys	p.E489K	ENST00000345122	2/7	159	137	22	197	197	0	strelka-mutect	ARHGAP5,missense_variant,p.Glu489Lys,ENST00000345122,NM_001030055.1;ARHGAP5,missense_variant,p.Glu489Lys,ENST00000432921,;ARHGAP5,missense_variant,p.Glu489Lys,ENST00000539826,;ARHGAP5,missense_variant,p.Glu489Lys,ENST00000556611,NM_001173.2;ARHGAP5,intron_variant,,ENST00000396582,;ARHGAP5,intron_variant,,ENST00000433497,;ARHGAP5,intron_variant,,ENST00000554090,;ARHGAP5,downstream_gene_variant,,ENST00000556191,;ARHGAP5,downstream_gene_variant,,ENST00000555814,;ARHGAP5,upstream_gene_variant,,ENST00000557643,;	A	ENST00000345122	Transcript	missense_variant	1780/9604	1465/4509	489/1502	E/K	Gag/Aag	rs78337553	1		1	ARHGAP5	HGNC	HGNC:675	protein_coding	YES	CCDS32062.1	ENSP00000371897	Q13017		UPI000057B85C	NM_001030055.1	deleterious(0.01)		2/7		Pfam_domain:PF01846,PROSITE_profiles:PS51676,hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4,SMART_domains:SM00441																	MODERATE	1	SNV	5			1										PASS		rs78337553	.												A	3	1	1	32092134	32092134	G	A	1	0	0	0	0	1	0	0	0	1016	943	33	3		3	ARHGAP5	14	32092134	Missense_Mutation	SNP	G	11LU013_TP		32092134	74951584	41	41											
CATSPERB	0	.	GRCh38	chr14	91669841	91669841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccataagcatacaaaaagtgGcttcggggatgaaataccat	16	8	9	8	1	0	1	0	1	0	0	1	2	0	2	2	3	3	2	2	3	6	4	novel		11LU013_TP	11LU013_NB	G	G																c.1260C>A	p.Ser420Arg	p.S420R	ENST00000256343	14/27	84	60	24	99	99	0	strelka-varscan-mutect	CATSPERB,missense_variant,p.Ser420Arg,ENST00000256343,NM_024764.3;CATSPERB,missense_variant,p.Ser30Arg,ENST00000557036,;	T	ENST00000256343	Transcript	missense_variant	1417/3623	1260/3351	420/1116	S/R	agC/agA		1		-1	CATSPERB	HGNC	HGNC:20500	protein_coding	YES	CCDS32142.1	ENSP00000256343	Q9H7T0		UPI0000418DA1	NM_024764.3	deleterious(0)		14/27		hmmpanther:PTHR14705																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	1	91669841	91669841	G	T	1	0	0	0	0	1	0	0	0	2391	1194	42	2		2	CATSPERB	14	91669841	Missense_Mutation	SNP	G	11LU013_TP	59577707	91669841	15373877	42	42											
ARHGAP11A	0	.	GRCh38	chr15	32623517	32623517	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtcgatgcttgcacatctTtagaagaccatattcatacc	11	14	6	10	1	2	2	1	0	1	2	3	3	2	2	2	0	3	2	2	0	4	7	novel		11LU013_TP	11LU013_NB	T	T																c.226T>C	p.=	p.L76L	ENST00000361627	3/12	92	81	11	238	238	0	strelka-varscan-mutect	ARHGAP11A,synonymous_variant,p.=,ENST00000361627,NM_014783.4;ARHGAP11A,synonymous_variant,p.=,ENST00000567348,NM_199357.1;ARHGAP11A,synonymous_variant,p.=,ENST00000563864,;ARHGAP11A,5_prime_UTR_variant,,ENST00000565905,NM_001286479.1;ARHGAP11A,5_prime_UTR_variant,,ENST00000543522,NM_001286480.1;	C	ENST00000361627	Transcript	synonymous_variant	948/5898	226/3072	76/1023	L	Tta/Cta		1		1	ARHGAP11A	HGNC	HGNC:15783	protein_coding	YES	CCDS10028.1	ENSP00000355090	Q6P4F7		UPI0000071553	NM_014783.4			3/12		PROSITE_profiles:PS50238,hmmpanther:PTHR15670:SF5,hmmpanther:PTHR15670,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	1	32623517	32623517	T	C	1	0	0	0	0	0	0	0	1	987	1838	64	5		5	ARHGAP11A	15	32623517	Silent	SNP	T	11LU013_TP		32623517	69367672	43	43											
ERCC4	0	.	GRCh38	chr16	13935451	13935451	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacctgaagaactggaagagGaaggagatgtcgaggaagga	17	4	16	4	1	0	4	0	1	0	3	1	10	0	8	1	5	2	0	1	5	6	0	novel		11LU013_TP	11LU013_NB	G	G																c.1519G>T	p.Glu507Ter	p.E507*	ENST00000311895	8/11	165	151	14	211	211	0	strelka-varscan-mutect	ERCC4,stop_gained,p.Glu507Ter,ENST00000311895,NM_005236.2;ERCC4,downstream_gene_variant,,ENST00000575156,;CTD-2135D7.2,non_coding_transcript_exon_variant,,ENST00000575137,;CTD-2135D7.2,non_coding_transcript_exon_variant,,ENST00000570663,;ERCC4,downstream_gene_variant,,ENST00000574781,;ERCC4,non_coding_transcript_exon_variant,,ENST00000389138,;ERCC4,upstream_gene_variant,,ENST00000462862,;ERCC4,downstream_gene_variant,,ENST00000574194,;ERCC4,downstream_gene_variant,,ENST00000573018,;	T	ENST00000311895	Transcript	stop_gained	1528/6758	1519/2751	507/916	E/*	Gaa/Taa		1		1	ERCC4	HGNC	HGNC:3436	protein_coding	YES	CCDS32390.1	ENSP00000310520	Q92889		UPI0000161BBF	NM_005236.2			8/11		hmmpanther:PTHR10150,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00596																	HIGH	1	SNV	1			1										PASS		rs1457367930	.												T	4	4	1	13935451	13935451	G	T	1	0	0	0	0	0	1	0	0	5064	1175	41	2		2	ERCC4	16	13935451	Nonsense_Mutation	SNP	G	11LU013_TP		13935451	76402894	44	44											
TP53	0	.	GRCh38	chr17	7674221	7674221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		11LU013_TP	11LU013_NB	G	G																c.742C>T	p.Arg248Trp	p.R248W	ENST00000269305	7/11	266	191	75	340	340	0	strelka-varscan-mutect	TP53,missense_variant,p.Arg248Trp,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Arg248Trp,ENST00000420246,;TP53,missense_variant,p.Arg209Trp,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Arg209Trp,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg248Trp,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Arg209Trp,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Arg248Trp,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Arg209Trp,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Arg248Trp,ENST00000445888,;TP53,missense_variant,p.Arg209Trp,ENST00000619485,;TP53,missense_variant,p.Arg116Trp,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Arg89Trp,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Arg116Trp,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Arg89Trp,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Arg116Trp,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Arg89Trp,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Arg248Trp,ENST00000359597,;TP53,missense_variant,p.Arg237Trp,ENST00000615910,;TP53,missense_variant,p.Arg248Trp,ENST00000413465,;TP53,missense_variant,p.Arg116Trp,ENST00000509690,;TP53,missense_variant,p.Arg155Trp,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Arg209Trp,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	932/2579	742/1182	248/393	R/W	Cgg/Tgg	rs121912651,CM010465,CM900211,TP53_g.13379C>G,TP53_g.13379C>T,TP53_g.13379C>A,TP53_g.13379del,COSM10656,COSM11564,COSM1189381,COSM1189382,COSM1189383,COSM120005,COSM120006,COSM120007,COSM1640831,COSM2744594,COSM3388183,COSM4271789,COSM44920,COSM45116	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										pathogenic	0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs121912651	.												A	3	1	1	7674221	7674221	G	A	1	0	0	0	0	1	0	0	0	16859	1115	39	1		1	TP53	17	7674221	Missense_Mutation	SNP	G	11LU013_TP		7674221	75583220	45	45											
DSC2	0	.	GRCh38	chr18	31080241	31080242	+	Frame_Shift_Ins	INS	-	-	A																															tgatcttctacattaacagtINSaactgttgctgtgctcatgg																								novel		11LU013_TP	11LU013_NB	-	-																c.1374dupT	p.Thr459TyrfsTer3	p.T459Yfs*3	ENST00000280904	10/16	331	306	25	348	348	0	sindel-varindel-pindel	DSC2,frameshift_variant,p.Thr459TyrfsTer3,ENST00000280904,NM_024422.4;DSC2,frameshift_variant,p.Thr459TyrfsTer3,ENST00000251081,NM_004949.4;	A	ENST00000280904	Transcript	frameshift_variant	1818-1819/12325	1374-1375/2706	458-459/901	-/X	-/T		1		-1	DSC2	HGNC	HGNC:3036	protein_coding	YES	CCDS11892.1	ENSP00000280904	Q02487		UPI00001298F9	NM_024422.4			10/16		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF0,SMART_domains:SM00112,Superfamily_domains:SSF49313																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	1	31080241	31080241	-	A	1	0	1	1	0	0	0	0	0	4587	1638	57	0		0	DSC2	18	31080241	Frame_Shift_Ins	INS	-	11LU013_TP		31080241	49293044	46	46											
WDR7	0	.	GRCh38	chr18	56731520	56731520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatgacgagacgtagtcttGctgctcttaaaaatatggcc	11	12	9	9	2	2	2	0	1	2	1	2	3	2	2	1	1	2	3	1	1	6	5	novel		11LU013_TP	11LU013_NB	G	G																c.1912G>A	p.Ala638Thr	p.A638T	ENST00000254442	14/28	146	124	22	222	222	0	strelka-varscan-mutect	WDR7,missense_variant,p.Ala638Thr,ENST00000254442,NM_015285.2;WDR7,missense_variant,p.Ala638Thr,ENST00000357574,NM_052834.2;WDR7,intron_variant,,ENST00000615645,;WDR7,intron_variant,,ENST00000589935,;WDR7,non_coding_transcript_exon_variant,,ENST00000585824,;WDR7,non_coding_transcript_exon_variant,,ENST00000590557,;WDR7,non_coding_transcript_exon_variant,,ENST00000587403,;	A	ENST00000254442	Transcript	missense_variant	2123/14083	1912/4473	638/1490	A/T	Gct/Act		1		1	WDR7	HGNC	HGNC:13490	protein_coding	YES	CCDS11962.1	ENSP00000254442	Q9Y4E6		UPI000013CE33	NM_015285.2	tolerated(0.22)		14/28		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF409																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	1	56731520	56731520	G	A	1	0	0	0	0	1	0	0	0	17876	1319	46	3		3	WDR7	18	56731520	Missense_Mutation	SNP	G	11LU013_TP	25651279	56731520	23641765	47	47											
ADAT3	0	.	GRCh38	chr19	1912953	1912953	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actggctacgacctgtacgtGacccgcgagccctgcgccat	7	7	11	16	5	0	1	0	1	0	0	0	3	0	1	4	1	4	2	4	1	2	2	novel		11LU013_TP	11LU013_NB	G	G																c.906G>A	p.=	p.V302V	ENST00000329478	2/2	649	583	66	672	670	2	strelka-varscan-mutect	ADAT3,synonymous_variant,p.=,ENST00000329478,NM_138422.2;SCAMP4,intron_variant,,ENST00000316097,NM_079834.2;SCAMP4,intron_variant,,ENST00000409472,;SCAMP4,intron_variant,,ENST00000414057,;SCAMP4,intron_variant,,ENST00000411971,;SCAMP4,intron_variant,,ENST00000588907,;SCAMP4,upstream_gene_variant,,ENST00000621748,;ADAT3,downstream_gene_variant,,ENST00000454697,;SCAMP4,upstream_gene_variant,,ENST00000590266,;SCAMP4,intron_variant,,ENST00000489554,;SCAMP4,intron_variant,,ENST00000452128,;SCAMP4,intron_variant,,ENST00000460767,;	A	ENST00000329478	Transcript	synonymous_variant	1126/1620	906/1104	302/367	V	gtG/gtA		1		1	ADAT3	HGNC	HGNC:25151	protein_coding	YES	CCDS12076.2	ENSP00000332448		D6W601	UPI00003749C2	NM_138422.2			2/2		Gene3D:3.40.140.10,Pfam_domain:PF00383,PROSITE_profiles:PS51747,hmmpanther:PTHR11079,hmmpanther:PTHR11079:SF3,Superfamily_domains:SSF53927																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	1	1912953	1912953	G	A	1	0	0	0	0	0	0	0	1	330	1277	45	3		3	ADAT3	19	1912953	Silent	SNP	G	11LU013_TP		1912953	56704663	48	48											
KDM4B	0	.	GRCh38	chr19	5039877	5039877	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccgcggcagacgtatgaTgacatcgacgacgtggtgat	11	7	14	9	6	0	4	0	3	0	1	1	6	0	4	1	2	1	2	1	2	2	1	novel		11LU013_TP	11LU013_NB	T	T																c.183T>C	p.=	p.D61D	ENST00000159111	4/23	151	134	17	189	188	1	strelka-mutect	KDM4B,synonymous_variant,p.=,ENST00000611640,;KDM4B,synonymous_variant,p.=,ENST00000159111,NM_015015.2;KDM4B,synonymous_variant,p.=,ENST00000536461,;KDM4B,synonymous_variant,p.=,ENST00000381759,;KDM4B,synonymous_variant,p.=,ENST00000588337,;	C	ENST00000159111	Transcript	synonymous_variant	401/5593	183/3291	61/1096	D	gaT/gaC		1		1	KDM4B	HGNC	HGNC:29136	protein_coding	YES	CCDS12138.1	ENSP00000159111		A0A0C4DFL8	UPI000023B7FC	NM_015015.2			4/23		Low_complexity_(Seg):seg,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF30																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	1	5039877	5039877	T	C	1	0	0	0	0	0	0	0	1	8047	1461	51	5		5	KDM4B	19	5039877	Silent	SNP	T	11LU013_TP	3126924	5039877	53577739	49	49											
MUC16	0	.	GRCh38	chr19	8963173	8963173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactgctttgtttatggaagGatgaatagtctctatatctg	10	16	9	6	0	2	1	0	1	2	0	3	3	2	3	0	2	1	2	0	2	6	6	novel		11LU013_TP	11LU013_NB	G	G																c.13597C>A	p.Pro4533Thr	p.P4533T	ENST00000397910	3/84	155	124	31	131	131	0	strelka-varscan-mutect	MUC16,missense_variant,p.Pro4533Thr,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	13801/43816	13597/43524	4533/14507	P/T	Cct/Act		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			MODERATE	1	SNV	5			1										PASS		rs1368136222	.												T	3	4	1	8963173	8963173	G	T	1	0	0	0	0	1	0	0	0	9972	1174	41	2		2	MUC16	19	8963173	Missense_Mutation	SNP	G	11LU013_TP	3923296	8963173	49654443	50	50											
KLK8	0	.	GRCh38	chr19	50996102	50996102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgatccagtccaggtagCggcagatgttggtatagacg	9	11	13	8	2	1	3	0	1	1	2	3	3	3	3	2	3	1	4	2	3	3	5	rs371793414		11LU013_TP	11LU013_NB	C	C																c.875G>A	p.Arg292His	p.R292H	ENST00000391806	6/6	201	186	15	228	228	0	strelka-mutect	KLK8,missense_variant,p.Arg247His,ENST00000600767,NM_007196.3;KLK8,missense_variant,p.Arg292His,ENST00000391806,NM_144505.2;KLK8,missense_variant,p.Arg126His,ENST00000291726,NM_001281431.1;KLK8,missense_variant,p.Arg106His,ENST00000347619,NM_144506.2;KLK8,3_prime_UTR_variant,,ENST00000320838,NM_144507.2;KLK8,3_prime_UTR_variant,,ENST00000593490,;KLK8,downstream_gene_variant,,ENST00000595238,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK8,non_coding_transcript_exon_variant,,ENST00000598195,;CTC-518B2.8,3_prime_UTR_variant,,ENST00000599166,;KLK8,non_coding_transcript_exon_variant,,ENST00000594914,;CTC-518B2.8,downstream_gene_variant,,ENST00000250366,;KLK8,downstream_gene_variant,,ENST00000599710,;KLK8,downstream_gene_variant,,ENST00000594669,;	T	ENST00000391806	Transcript	missense_variant	956/1051	875/918	292/305	R/H	cGc/cAc	rs371793414,COSM999891	1		-1	KLK8	HGNC	HGNC:6369	protein_coding	YES	CCDS42600.1	ENSP00000375682	O60259		UPI000002ACDB	NM_144505.2	tolerated(0.35)		6/6		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF123,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs371793414	.												T	3	4	1	50996102	50996102	C	T	1	0	0	0	0	1	0	0	0	8279	768	27	1		1	KLK8	19	50996102	Missense_Mutation	SNP	C	11LU013_TP	42032929	50996102	7621514	51	51											
ZBTB45	0	.	GRCh38	chr19	58517618	58517618	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccattgagggtctcaagcAgagagcgtgagaagttctgc	10	8	14	9	1	2	3	1	2	2	2	3	5	2	3	1	1	3	2	1	1	2	2	novel		11LU013_TP	11LU013_NB	A	A																c.56T>A	p.Leu19Gln	p.L19Q	ENST00000594051	2/3	236	188	48	259	259	0	strelka-varscan-mutect	ZBTB45,missense_variant,p.Leu19Gln,ENST00000594051,NM_001316979.1;ZBTB45,missense_variant,p.Leu19Gln,ENST00000354590,NM_032792.2;ZBTB45,missense_variant,p.Leu19Gln,ENST00000600990,;ZBTB45,missense_variant,p.Leu19Gln,ENST00000600130,;ZBTB45,downstream_gene_variant,,ENST00000596739,;	T	ENST00000594051	Transcript	missense_variant	537/2541	56/1536	19/511	L/Q	cTg/cAg		1		-1	ZBTB45	HGNC	HGNC:23715	protein_coding	YES	CCDS12984.1	ENSP00000469089	Q96K62	A0A024R4T8	UPI00000739B8	NM_001316979.1	deleterious(0)		2/3		Gene3D:3.30.710.10,Superfamily_domains:SSF54695																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	1	58517618	58517618	A	T	1	0	0	0	0	1	0	0	0	18116	188	7	4		4	ZBTB45	19	58517618	Missense_Mutation	SNP	A	11LU013_TP	7521516	58517618	99998	52	52											
MYH9	0	.	GRCh38	chr22	36341463	36341463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtacatttccacaatctCttcagagtagatgggcaggt	10	13	9	9	0	2	2	1	0	1	2	4	2	3	2	1	2	1	3	1	2	3	5	novel		11LU013_TP	11LU013_NB	C	C																c.397G>A	p.Glu133Lys	p.E133K	ENST00000216181	3/41	494	427	67	701	701	0	strelka-varscan-mutect	MYH9,missense_variant,p.Glu133Lys,ENST00000216181,NM_002473.5;MYH9,missense_variant,p.Glu133Lys,ENST00000401701,;	T	ENST00000216181	Transcript	missense_variant	628/7501	397/5883	133/1960	E/K	Gag/Aag		1		-1	MYH9	HGNC	HGNC:7579	protein_coding	YES	CCDS13927.1	ENSP00000216181	P35579	A0A024R1N1	UPI000012FB80	NM_002473.5	tolerated(1)		3/41		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF317,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	1	36341463	36341463	C	T	1	0	0	0	0	1	0	0	0	10042	922	32	3		3	MYH9	22	36341463	Missense_Mutation	SNP	C	11LU013_TP		36341463	14477005	53	53											
CELSR1	0	.	GRCh38	chr22	46366464	46366464	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccgtcaccgaaggtggtgTtgcagttgagggagcgctga	7	8	17	9	3	1	2	1	2	0	0	1	4	1	3	2	3	2	4	2	3	1	2	rs753600009		11LU013_TP	11LU013_NB	T	T																c.8222A>G	p.Asn2741Ser	p.N2741S	ENST00000262738	30/35	277	242	35	298	298	0	strelka-varscan-mutect	CELSR1,missense_variant,p.Asn2741Ser,ENST00000262738,NM_014246.1;CELSR1,upstream_gene_variant,,ENST00000473624,;	C	ENST00000262738	Transcript	missense_variant	8222/11389	8222/9045	2741/3014	N/S	aAc/aGc	rs753600009	1		-1	CELSR1	HGNC	HGNC:1850	protein_coding	YES	CCDS14076.1	ENSP00000262738	Q9NYQ6		UPI0000040648	NM_014246.1	deleterious(0.03)		30/35		hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF36																	MODERATE	1	SNV	1			1										PASS		rs753600009	.												C	3	2	1	46366464	46366464	T	C	1	0	0	0	0	1	0	0	0	2928	1725	60	5		5	CELSR1	22	46366464	Missense_Mutation	SNP	T	11LU013_TP	10025001	46366464	4452004	54	54											
COL4A5	0	.	GRCh38	chrX	108692863	108692863	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttactggctctctaccccAgagcccatgccaatgagcat	9	10	7	15	0	2	2	0	1	2	1	3	2	2	2	4	1	5	2	4	1	3	2	novel		11LU013_TP	11LU013_NB	A	A																c.4644A>G	p.=	p.P1548P	ENST00000328300	50/53	274	190	84	174	174	0	strelka-varscan-mutect	COL4A5,synonymous_variant,p.=,ENST00000328300,NM_033380.2;COL4A5,synonymous_variant,p.=,ENST00000361603,NM_000495.4;COL4A5,synonymous_variant,p.=,ENST00000504541,;COL4A5,intron_variant,,ENST00000515658,;	G	ENST00000328300	Transcript	synonymous_variant	4888/6483	4644/5076	1548/1691	P	ccA/ccG		1		1	COL4A5	HGNC	HGNC:2207	protein_coding	YES	CCDS35366.1	ENSP00000331902	P29400		UPI000002A538	NM_033380.2			50/53		PROSITE_profiles:PS51403,hmmpanther:PTHR24023:SF543,hmmpanther:PTHR24023,Gene3D:1t60D00,Pfam_domain:PF01413,SMART_domains:SM00111,Superfamily_domains:SSF56436																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	1	108692863	108692863	A	G	1	0	0	0	0	0	0	0	1	3483	175	7	5		5	COL4A5	23	108692863	Silent	SNP	A	11LU013_TP		108692863	47348032	55	55											
PGRMC1	0	.	GRCh38	chrX	119236405	119236405	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgactggcgccgacccaagCgatctggagagcggcgggct	7	4	17	13	6	1	1	0	0	1	1	1	5	1	1	2	4	2	1	2	4	1	0	novel		11LU013_TP	11LU013_NB	C	C																c.42C>T	p.=	p.S14S	ENST00000217971	1/3	299	210	89	192	192	0	strelka-varscan-mutect	PGRMC1,synonymous_variant,p.=,ENST00000217971,NM_006667.4;PGRMC1,synonymous_variant,p.=,ENST00000535419,NM_001282621.1;	T	ENST00000217971	Transcript	synonymous_variant	153/1911	42/588	14/195	S	agC/agT		1		1	PGRMC1	HGNC	HGNC:16090	protein_coding	YES	CCDS14576.1	ENSP00000217971	O00264	Q6IB11	UPI000013C73E	NM_006667.4			1/3		hmmpanther:PTHR10281,hmmpanther:PTHR10281:SF23																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	1	119236405	119236405	C	T	1	0	0	0	0	0	0	0	1	11895	767	27	1		1	PGRMC1	23	119236405	Silent	SNP	C	11LU013_TP	10543542	119236405	36804490	56	56											
AGRN	0	.	GRCh38	chr1	1047641	1047641	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccgcttgcgggacctgggGcccggcaaatccgtccgcgc	4	6	15	16	6	0	0	0	0	0	0	3	1	3	1	5	4	1	2	5	4	1	1	novel		11LU016_TP	11LU016_NB	G	G																c.3585G>T	p.=	p.G1195G	ENST00000379370	21/36	516	402	114	585	583	2	strelka-varscan-mutect	AGRN,synonymous_variant,p.=,ENST00000620552,NM_001305275.1;AGRN,synonymous_variant,p.=,ENST00000379370,NM_198576.3;AGRN,upstream_gene_variant,,ENST00000419249,;AGRN,non_coding_transcript_exon_variant,,ENST00000466223,;AGRN,non_coding_transcript_exon_variant,,ENST00000478677,;AGRN,upstream_gene_variant,,ENST00000461111,;AGRN,upstream_gene_variant,,ENST00000492947,;AGRN,downstream_gene_variant,,ENST00000479707,;	T	ENST00000379370	Transcript	synonymous_variant	3635/7323	3585/6138	1195/2045	G	ggG/ggT		1		1	AGRN	HGNC	HGNC:329	protein_coding	YES	CCDS30551.1	ENSP00000368678	O00468		UPI00001D7C8B	NM_198576.3			21/36		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF288,SMART_domains:SM00200																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	1047641	1047641	G	T	1	0	0	0	0	0	0	0	1	476	1190	42	2		2	AGRN	1	1047641	Silent	SNP	G	11LU016_TP		1047641	247908781	1	57											
CFAP74	0	.	GRCh38	chr1	1955788	1955788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgtgccctctagctgctgCtcagagaagctggtggcggc	5	9	14	13	2	2	1	1	0	1	1	3	2	3	1	2	3	5	4	2	3	2	1	novel		11LU016_TP	11LU016_NB	C	C																c.2079G>T	p.Glu693Asp	p.E693D	ENST00000493964	18/38	235	214	21	198	198	0	strelka-varscan-mutect	CFAP74,missense_variant,p.Glu693Asp,ENST00000493964,NM_001304360.1;CFAP74,non_coding_transcript_exon_variant,,ENST00000270720,;CFAP74,non_coding_transcript_exon_variant,,ENST00000468610,;CFAP74,non_coding_transcript_exon_variant,,ENST00000493316,;CFAP74,non_coding_transcript_exon_variant,,ENST00000461752,;	A	ENST00000493964	Transcript	missense_variant	2235/5247	2079/4755	693/1584	E/D	gaG/gaT		1		-1	CFAP74	HGNC	HGNC:29368	protein_coding	YES		ENSP00000417061	Q9C0B2		UPI0004620AE2	NM_001304360.1	tolerated(0.11)		18/38		hmmpanther:PTHR22538																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	2	1955788	1955788	C	A	1	0	0	0	0	1	0	0	0	3033	796	28	2		2	CFAP74	1	1955788	Missense_Mutation	SNP	C	11LU016_TP	908147	1955788	247000634	2	58											
ARHGEF16	0	.	GRCh38	chr1	3473101	3473101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcgaggacctggagcagcGgcacaaggcccaggtgctgg	8	5	16	12	2	0	0	0	0	0	0	1	3	0	2	2	6	3	3	2	6	1	1	rs536938385		11LU016_TP	11LU016_NB	G	G																c.1046G>T	p.Arg349Leu	p.R349L	ENST00000378378	7/15	82	63	19	130	130	0	strelka-varscan-mutect	ARHGEF16,missense_variant,p.Arg349Leu,ENST00000378378,NM_014448.3;ARHGEF16,missense_variant,p.Arg61Leu,ENST00000378371,;ARHGEF16,missense_variant,p.Arg61Leu,ENST00000378373,;ARHGEF16,missense_variant,p.Arg61Leu,ENST00000445297,;ARHGEF16,missense_variant,p.Arg53Leu,ENST00000418137,;ARHGEF16,non_coding_transcript_exon_variant,,ENST00000485984,;ARHGEF16,non_coding_transcript_exon_variant,,ENST00000464620,;	T	ENST00000378378	Transcript	missense_variant	1451/3061	1046/2130	349/709	R/L	cGg/cTg	rs536938385,COSM1146305,COSM681066,COSM681067	1		1	ARHGEF16	HGNC	HGNC:15515	protein_coding	YES	CCDS46.2	ENSP00000367629	Q5VV41		UPI00002039A3	NM_014448.3	deleterious(0)		7/15		PROSITE_profiles:PS50010,hmmpanther:PTHR12845:SF3,hmmpanther:PTHR12845,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065											0,1,1,1						MODERATE	1	SNV	2		0,1,1,1	1										PASS		rs536938385	.												T	3	4	2	3473101	3473101	G	T	1	0	0	0	0	1	0	0	0	1029	1116	39	1		1	ARHGEF16	1	3473101	Missense_Mutation	SNP	G	11LU016_TP	1517313	3473101	245483321	3	59											
TP73	0	.	GRCh38	chr1	3722162	3722162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcacgtgaccgacgtcGtgaaacgctgccccaaccac	10	4	11	16	6	0	2	0	2	0	0	1	4	0	3	4	1	4	2	4	1	2	0			11LU016_TP	11LU016_NB	G	G																c.571G>T	p.Val191Leu	p.V191L	ENST00000378295	5/14	194	164	30	381	381	0	strelka-varscan-mutect	TP73,missense_variant,p.Val191Leu,ENST00000378295,NM_005427.3,NM_001204185.1;TP73,missense_variant,p.Val142Leu,ENST00000378288,NM_001204191.1,NM_001126240.2,NM_001204190.1;TP73,missense_variant,p.Val191Leu,ENST00000357733,NM_001204187.1;TP73,missense_variant,p.Val191Leu,ENST00000346387,NM_001204188.1;TP73,missense_variant,p.Val191Leu,ENST00000604074,NM_001204189.1,NM_001204186.1;TP73,missense_variant,p.Val191Leu,ENST00000354437,NM_001204184.1;TP73,missense_variant,p.Val142Leu,ENST00000378285,NM_001126241.2;TP73,missense_variant,p.Val142Leu,ENST00000378280,NM_001126242.2;TP73,missense_variant,p.Val120Leu,ENST00000378290,NM_001204192.1;TP73,missense_variant,p.Val191Leu,ENST00000603362,;TP73,missense_variant,p.Val191Leu,ENST00000604479,;TP73,non_coding_transcript_exon_variant,,ENST00000603364,;	T	ENST00000378295	Transcript	missense_variant	726/5188	571/1911	191/636	V/L	Gtg/Ttg	COSM3356580,COSM3356581	1		1	TP73	HGNC	HGNC:12003	protein_coding	YES	CCDS49.1	ENSP00000367545	O15350	A0A024R4C3	UPI000002E988	NM_005427.3,NM_001204185.1	deleterious(0.04)		5/14		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF21,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	2	3722162	3722162	G	T	1	0	0	0	0	1	0	0	0	16872	1145	40	1		1	TP73	1	3722162	Missense_Mutation	SNP	G	11LU016_TP	249061	3722162	245234260	4	60											
CHD5	0	.	GRCh38	chr1	6125181	6125181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgggggcatgccccagCgcatgatggcgttcagaaag	8	6	15	12	3	1	2	1	1	0	1	1	2	1	2	3	3	3	3	3	3	1	1	rs866772665		11LU016_TP	11LU016_NB	C	C																c.4313G>T	p.Arg1438Leu	p.R1438L	ENST00000262450	29/42	134	117	17	159	159	0	strelka-varscan-mutect	CHD5,missense_variant,p.Arg1438Leu,ENST00000262450,NM_015557.2;CHD5,missense_variant,p.Arg821Leu,ENST00000462991,;CHD5,3_prime_UTR_variant,,ENST00000377999,;CHD5,intron_variant,,ENST00000496404,;CHD5,downstream_gene_variant,,ENST00000491020,;	A	ENST00000262450	Transcript	missense_variant	4413/9646	4313/5865	1438/1954	R/L	cGc/cTc	rs866772665	1		-1	CHD5	HGNC	HGNC:16816	protein_coding	YES	CCDS57.1	ENSP00000262450	Q8TDI0		UPI000006CD03	NM_015557.2	deleterious(0.01)		29/42		Pfam_domain:PF06461,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583,SMART_domains:SM01146																	MODERATE	1	SNV	1			1										PASS		rs866772665	.												A	3	1	2	6125181	6125181	C	A	1	0	0	0	0	1	0	0	0	3087	768	27	1		1	CHD5	1	6125181	Missense_Mutation	SNP	C	11LU016_TP	2403019	6125181	242831241	5	61											
PLEKHG5	0	.	GRCh38	chr1	6470272	6470272	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcatcctcaggctcccCtccagcagcagctgccgcgt	5	9	8	19	2	2	0	2	0	0	0	6	0	6	0	6	1	4	4	6	1	0	1	novel		11LU016_TP	11LU016_NB	C	C																c.2001G>A	p.=	p.E667E	ENST00000537245	17/22	142	109	33	170	170	0	strelka-varscan-mutect	PLEKHG5,synonymous_variant,p.=,ENST00000377748,NM_198681.3;PLEKHG5,synonymous_variant,p.=,ENST00000537245,NM_001265592.1;PLEKHG5,synonymous_variant,p.=,ENST00000535355,NM_001265593.1;PLEKHG5,synonymous_variant,p.=,ENST00000340850,NM_001042664.1;PLEKHG5,synonymous_variant,p.=,ENST00000400913,NM_001042665.1;PLEKHG5,synonymous_variant,p.=,ENST00000377732,;PLEKHG5,synonymous_variant,p.=,ENST00000400915,NM_001042663.1;PLEKHG5,synonymous_variant,p.=,ENST00000377728,NM_020631.4;PLEKHG5,synonymous_variant,p.=,ENST00000377740,;PLEKHG5,synonymous_variant,p.=,ENST00000377725,NM_001265594.1;TNFRSF25,upstream_gene_variant,,ENST00000377782,NM_148965.1;TNFRSF25,upstream_gene_variant,,ENST00000356876,NM_003790.2;TNFRSF25,upstream_gene_variant,,ENST00000351959,NM_148966.1;TNFRSF25,upstream_gene_variant,,ENST00000348333,NM_148967.1;TNFRSF25,upstream_gene_variant,,ENST00000481401,;TNFRSF25,upstream_gene_variant,,ENST00000351748,NM_148970.1;TNFRSF25,upstream_gene_variant,,ENST00000461703,;PLEKHG5,non_coding_transcript_exon_variant,,ENST00000489097,;PLEKHG5,non_coding_transcript_exon_variant,,ENST00000487949,;TNFRSF25,upstream_gene_variant,,ENST00000513135,;TNFRSF25,upstream_gene_variant,,ENST00000485036,;TNFRSF25,upstream_gene_variant,,ENST00000480393,;TNFRSF25,upstream_gene_variant,,ENST00000414040,;TNFRSF25,upstream_gene_variant,,ENST00000510563,;TNFRSF25,upstream_gene_variant,,ENST00000502588,;TNFRSF25,upstream_gene_variant,,ENST00000502730,;TNFRSF25,upstream_gene_variant,,ENST00000469691,;TNFRSF25,upstream_gene_variant,,ENST00000453341,;TNFRSF25,upstream_gene_variant,,ENST00000515145,;	T	ENST00000537245	Transcript	synonymous_variant	2066/4794	2001/3258	667/1085	E	gaG/gaA		1		-1	PLEKHG5	HGNC	HGNC:29105	protein_coding	YES	CCDS57969.1	ENSP00000439625	O94827		UPI000206539E	NM_001265592.1			17/22		PROSITE_profiles:PS50003,hmmpanther:PTHR13217,hmmpanther:PTHR13217:SF9,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	LOW		SNV	2			1										PASS		.	.												T	2	4	2	6470272	6470272	C	T	1	0	0	0	0	0	0	0	1	12166	680	24	3		3	PLEKHG5	1	6470272	Silent	SNP	C	11LU016_TP	345091	6470272	242486150	6	62											
SLC2A7	0	.	GRCh38	chr1	9013599	9013599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagtgagcggcctccacgcCcgcagatgtgtagatggtgt	7	8	16	10	3	0	3	0	1	0	2	1	4	1	4	3	3	1	2	3	3	1	1	novel		11LU016_TP	11LU016_NB	C	C																c.940G>T	p.Gly314Cys	p.G314C	ENST00000400906	8/12	149	119	30	160	159	1	strelka-varscan-mutect	SLC2A7,missense_variant,p.Gly314Cys,ENST00000400906,NM_207420.2;	A	ENST00000400906	Transcript	missense_variant	940/1539	940/1539	314/512	G/C	Ggc/Tgc		1		-1	SLC2A7	HGNC	HGNC:13445	protein_coding	YES	CCDS98.2	ENSP00000383698	Q6PXP3		UPI00001A73A8	NM_207420.2	deleterious(0)		8/12		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR23503,hmmpanther:PTHR23503:SF30,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	9013599	9013599	C	A	1	0	0	0	0	1	0	0	0	14820	623	22	2		2	SLC2A7	1	9013599	Missense_Mutation	SNP	C	11LU016_TP	2543327	9013599	239942823	7	63											
TMEM51	0	.	GRCh38	chr1	15219518	15219518	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatccaccagggctgacgtGgaggccagccctgggaaccc	9	4	13	15	1	0	1	0	1	0	0	1	3	1	3	5	4	2	1	5	4	1	0	novel		11LU016_TP	11LU016_NB	G	G																c.537G>T	p.=	p.V179V	ENST00000428417	3/3	239	190	49	201	201	0	strelka-varscan-mutect	TMEM51,synonymous_variant,p.=,ENST00000428417,NM_001136217.1;TMEM51,synonymous_variant,p.=,ENST00000376008,NM_001319665.1,NM_001136218.1;TMEM51,synonymous_variant,p.=,ENST00000376014,NM_001136216.1;TMEM51,synonymous_variant,p.=,ENST00000400796,NM_018022.2;TMEM51,3_prime_UTR_variant,,ENST00000434578,;TMEM51,downstream_gene_variant,,ENST00000451326,;	T	ENST00000428417	Transcript	synonymous_variant	983/1942	537/762	179/253	V	gtG/gtT		1		1	TMEM51	HGNC	HGNC:25488	protein_coding	YES	CCDS154.1	ENSP00000394899	Q9NW97	A0A024QZ97	UPI0000073712	NM_001136217.1			3/3		hmmpanther:PTHR16015,Pfam_domain:PF15345																	LOW	1	SNV	3			1										PASS		.	.												T	2	4	2	15219518	15219518	G	T	1	0	0	0	0	0	0	0	1	16652	1335	47	2		2	TMEM51	1	15219518	Silent	SNP	G	11LU016_TP	6205919	15219518	233736904	8	64											
CASP9	0	.	GRCh38	chr1	15524162	15524162	+	Silent	SNP	C	C	A																															agctcttccaccagccgcagCcggcaccgccgcaggagccg																								novel		11LU016_TP	11LU016_NB	C	C																c.39G>T	p.=	p.R13R	ENST00000333868	1/9	198	175	23	305	305	0	strelka-varscan-mutect	CASP9,synonymous_variant,p.=,ENST00000546424,;CASP9,synonymous_variant,p.=,ENST00000333868,NM_001229.4;CASP9,synonymous_variant,p.=,ENST00000348549,NM_001278054.1;CASP9,synonymous_variant,p.=,ENST00000440484,;CASP9,intron_variant,,ENST00000375890,NM_032996.3;CASP9,intron_variant,,ENST00000447522,;CASP9,intron_variant,,ENST00000469637,;DNAJC16,upstream_gene_variant,,ENST00000375847,NM_015291.3;DNAJC16,upstream_gene_variant,,ENST00000616884,NM_001287811.1;DNAJC16,upstream_gene_variant,,ENST00000375849,;DNAJC16,upstream_gene_variant,,ENST00000375838,;CASP9,synonymous_variant,p.=,ENST00000400777,;CASP9,synonymous_variant,p.=,ENST00000474305,;CASP9,non_coding_transcript_exon_variant,,ENST00000546969,;DNAJC16,upstream_gene_variant,,ENST00000475133,;	A	ENST00000333868	Transcript	synonymous_variant	134/2019	39/1251	13/416	R	cgG/cgT		1		-1	CASP9	HGNC	HGNC:1511	protein_coding	YES	CCDS158.1	ENSP00000330237	P55211		UPI000012D14F	NM_001229.4			1/9		Low_complexity_(Seg):seg,PROSITE_profiles:PS50209,hmmpanther:PTHR10454:SF157,hmmpanther:PTHR10454,Gene3D:1.10.533.10,Pfam_domain:PF00619,PIRSF_domain:PIRSF038001,SMART_domains:SM00114,Superfamily_domains:SSF47986																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	15524162	15524162	C	A	1	0	0	0	0	0	0	0	1	2378	726	26	2		2	CASP9	1	15524162	Silent	SNP	C	11LU016_TP	304644	15524162	233432260	9	65	1	2									
CASP9	0	.	GRCh38	chr1	15524163	15524163	+	Missense_Mutation	SNP	C	C	A																															gctcttccaccagccgcagcCggcaccgccgcaggagccgc																								novel		11LU016_TP	11LU016_NB	C	C																c.38G>T	p.Arg13Leu	p.R13L	ENST00000333868	1/9	197	173	24	309	309	0	strelka-varscan-mutect	CASP9,missense_variant,p.Arg13Leu,ENST00000546424,;CASP9,missense_variant,p.Arg13Leu,ENST00000333868,NM_001229.4;CASP9,missense_variant,p.Arg13Leu,ENST00000348549,NM_001278054.1;CASP9,missense_variant,p.Arg13Leu,ENST00000440484,;CASP9,intron_variant,,ENST00000375890,NM_032996.3;CASP9,intron_variant,,ENST00000447522,;CASP9,intron_variant,,ENST00000469637,;DNAJC16,upstream_gene_variant,,ENST00000375847,NM_015291.3;DNAJC16,upstream_gene_variant,,ENST00000616884,NM_001287811.1;DNAJC16,upstream_gene_variant,,ENST00000375849,;DNAJC16,upstream_gene_variant,,ENST00000375838,;CASP9,missense_variant,p.Arg11Leu,ENST00000400777,;CASP9,missense_variant,p.Arg13Leu,ENST00000474305,;CASP9,non_coding_transcript_exon_variant,,ENST00000546969,;DNAJC16,upstream_gene_variant,,ENST00000475133,;	A	ENST00000333868	Transcript	missense_variant	133/2019	38/1251	13/416	R/L	cGg/cTg		1		-1	CASP9	HGNC	HGNC:1511	protein_coding	YES	CCDS158.1	ENSP00000330237	P55211		UPI000012D14F	NM_001229.4	deleterious(0)		1/9		Low_complexity_(Seg):seg,PROSITE_profiles:PS50209,hmmpanther:PTHR10454:SF157,hmmpanther:PTHR10454,Gene3D:1.10.533.10,Pfam_domain:PF00619,PIRSF_domain:PIRSF038001,SMART_domains:SM00114,Superfamily_domains:SSF47986																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	15524163	15524163	C	A	1	0	0	0	0	1	0	0	0	2378	652	23	1		1	CASP9	1	15524163	Missense_Mutation	SNP	C	11LU016_TP	1	15524163	233432259	10	66	1	2									
CLCNKA	0	.	GRCh38	chr1	16026547	16026547	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctgcagggccctttcgtGcacctgtctgtaatgatcgc	5	12	10	14	2	2	1	0	1	2	0	4	1	2	1	3	1	2	3	3	1	1	2	novel		11LU016_TP	11LU016_NB	G	G																c.510G>T	p.=	p.V170V	ENST00000331433	6/20	715	576	139	891	890	1	strelka-varscan-mutect	CLCNKA,synonymous_variant,p.=,ENST00000375692,NM_001042704.1;CLCNKA,synonymous_variant,p.=,ENST00000331433,NM_004070.3;CLCNKA,synonymous_variant,p.=,ENST00000439316,NM_001257139.1;CLCNKA,non_coding_transcript_exon_variant,,ENST00000464764,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000495784,;CLCNKA,upstream_gene_variant,,ENST00000491433,;CLCNKA,downstream_gene_variant,,ENST00000477360,;	T	ENST00000331433	Transcript	synonymous_variant	529/2475	510/2064	170/687	V	gtG/gtT		1		1	CLCNKA	HGNC	HGNC:2026	protein_coding	YES	CCDS167.1	ENSP00000332771	P51800		UPI0000127993	NM_004070.3			6/20		Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF95,Superfamily_domains:SSF81340,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	16026547	16026547	G	T	1	0	0	0	0	0	0	0	1	3233	1306	46	2		2	CLCNKA	1	16026547	Silent	SNP	G	11LU016_TP	502384	16026547	232929875	11	67											
HTR6	0	.	GRCh38	chr1	19666051	19666051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcgcgcggcctctgcCtgctctggaccgccttcgac	2	9	13	17	5	2	0	0	0	2	0	3	2	2	1	4	3	3	2	4	3	0	1	novel		11LU016_TP	11LU016_NB	C	C																c.298C>A	p.Leu100Met	p.L100M	ENST00000289753	1/3	185	145	40	160	160	0	strelka-varscan-mutect	HTR6,missense_variant,p.Leu100Met,ENST00000289753,NM_000871.2;	A	ENST00000289753	Transcript	missense_variant	765/1984	298/1323	100/440	L/M	Ctg/Atg		1		1	HTR6	HGNC	HGNC:5301	protein_coding	YES	CCDS197.1	ENSP00000289753	P50406		UPI00000503E0	NM_000871.2	tolerated(0.12)		1/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF114,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	19666051	19666051	C	A	1	0	0	0	0	1	0	0	0	7347	680	24	2		2	HTR6	1	19666051	Missense_Mutation	SNP	C	11LU016_TP	3639504	19666051	229290371	12	68											
RUNX3	0	.	GRCh38	chr1	24907382	24907382	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccccaaagcggtcagggaAcggcttggtctggtcctcca	7	8	13	13	2	2	0	1	0	1	0	5	1	5	1	4	5	2	1	4	5	2	1	novel		11LU016_TP	11LU016_NB	A	A																c.622T>C	p.Phe208Leu	p.F208L	ENST00000399916	5/6	153	134	19	166	166	0	strelka-varscan-mutect	RUNX3,missense_variant,p.Phe208Leu,ENST00000399916,NM_001320672.1,NM_001031680.2;RUNX3,missense_variant,p.Phe194Leu,ENST00000308873,NM_004350.2;RUNX3,missense_variant,p.Phe208Leu,ENST00000338888,;RUNX3,non_coding_transcript_exon_variant,,ENST00000496967,;	G	ENST00000399916	Transcript	missense_variant	1061/4340	622/1290	208/429	F/L	Ttc/Ctc		1		-1	RUNX3	HGNC	HGNC:10473	protein_coding	YES	CCDS30633.1	ENSP00000382800	Q13761	A0A024RAH4	UPI000002B2FF	NM_001320672.1,NM_001031680.2	deleterious(0.01)		5/6		hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF26																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	2	24907382	24907382	A	G	1	0	0	0	0	1	0	0	0	14010	43	2	5		5	RUNX3	1	24907382	Missense_Mutation	SNP	A	11LU016_TP	5241331	24907382	224049040	13	69											
GMEB1	0	.	GRCh38	chr1	28714431	28714431	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccaagagcagctcaccAgacacagtgaccatccaccc	12	5	7	17	0	2	3	1	1	1	2	3	3	3	3	5	0	3	2	5	0	1	0	novel		11LU016_TP	11LU016_NB	A	A																c.1380A>G	p.=	p.P460P	ENST00000294409	10/10	288	252	36	238	238	0	strelka-varscan-mutect	GMEB1,synonymous_variant,p.=,ENST00000373816,NM_024482.2;GMEB1,synonymous_variant,p.=,ENST00000294409,NM_006582.3;GMEB1,synonymous_variant,p.=,ENST00000361872,;GMEB1,non_coding_transcript_exon_variant,,ENST00000480454,;	G	ENST00000294409	Transcript	synonymous_variant	1470/1912	1380/1722	460/573	P	ccA/ccG		1		1	GMEB1	HGNC	HGNC:4370	protein_coding	YES	CCDS327.1	ENSP00000294409	Q9Y692		UPI000012B8AB	NM_006582.3			10/10		hmmpanther:PTHR10417,hmmpanther:PTHR10417:SF3																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	2	28714431	28714431	A	G	1	0	0	0	0	0	0	0	1	6366	175	7	5		5	GMEB1	1	28714431	Silent	SNP	A	11LU016_TP	3807049	28714431	220241991	14	70											
EPHA10	0	.	GRCh38	chr1	37720038	37720038	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtctcgggagcggcccaTagcgctgggctccggccact	5	7	15	14	4	1	0	0	0	1	0	3	1	2	1	3	4	2	2	3	4	1	1	rs768211661		11LU016_TP	11LU016_NB	T	T																c.2433A>T	p.=	p.L811L	ENST00000373048	14/17	239	184	55	339	339	0	strelka-varscan-mutect	EPHA10,synonymous_variant,p.=,ENST00000373048,NM_001099439.1;EPHA10,synonymous_variant,p.=,ENST00000427468,;EPHA10,downstream_gene_variant,,ENST00000540011,;EPHA10,non_coding_transcript_exon_variant,,ENST00000446149,;EPHA10,synonymous_variant,p.=,ENST00000534097,;EPHA10,3_prime_UTR_variant,,ENST00000437645,;EPHA10,3_prime_UTR_variant,,ENST00000432874,;EPHA10,downstream_gene_variant,,ENST00000453577,;	A	ENST00000373048	Transcript	synonymous_variant	2433/5425	2433/3027	811/1008	L	ctA/ctT	rs768211661	1		-1	EPHA10	HGNC	HGNC:19987	protein_coding	YES	CCDS41305.1	ENSP00000362139	Q5JZY3		UPI00001A41BD	NM_001099439.1			14/17		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000666,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF258,Superfamily_domains:SSF56112																	LOW	1	SNV	5			1										PASS		rs768211661	.												A	2	1	2	37720038	37720038	T	A	1	0	0	0	0	0	0	0	1	5013	1393	49	4		4	EPHA10	1	37720038	Silent	SNP	T	11LU016_TP	9005607	37720038	211236384	15	71											
MACF1	0	.	GRCh38	chr1	39429981	39429981	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatgaggaactgaccgggtgGctgagggaggtggaggagga	10	6	21	4	1	0	3	0	3	0	0	0	8	0	8	1	8	1	1	1	8	2	1	novel		11LU016_TP	11LU016_NB	G	G																c.10857G>C	p.Trp3619Cys	p.W3619C	ENST00000361689	59/93	299	277	22	328	328	0	strelka-varscan-mutect	MACF1,missense_variant,p.Trp5681Cys,ENST00000564288,;MACF1,missense_variant,p.Trp5718Cys,ENST00000567887,;MACF1,missense_variant,p.Trp5577Cys,ENST00000372915,;MACF1,missense_variant,p.Trp4121Cys,ENST00000289893,;MACF1,missense_variant,p.Trp3619Cys,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Trp2623Cys,ENST00000372925,;MACF1,downstream_gene_variant,,ENST00000482035,;MACF1,upstream_gene_variant,,ENST00000473843,;	C	ENST00000361689	Transcript	missense_variant	10909/17538	10857/16293	3619/5430	W/C	tgG/tgC		1		1	MACF1	HGNC	HGNC:13664	protein_coding	YES	CCDS435.1	ENSP00000354573	Q9UPN3		UPI00001B3DC6	NM_012090.5	deleterious(0)		59/93		Gene3D:1.20.58.60,SMART_domains:SM00150																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	2	39429981	39429981	G	C	1	0	0	0	0	1	0	0	0	9060	1212	42	4		4	MACF1	1	39429981	Missense_Mutation	SNP	G	11LU016_TP	1709943	39429981	209526441	16	72											
CTPS1	0	.	GRCh38	chr1	40991789	40991789	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcaggtgctcaaatccaCttgacacatcagtgaaggag	13	9	10	9	0	2	2	2	2	0	0	3	3	3	3	1	2	2	2	1	2	3	2	novel		11LU016_TP	11LU016_NB	C	C																c.664C>G	p.Leu222Val	p.L222V	ENST00000372621	7/19	195	172	23	193	193	0	strelka-varscan-mutect	CTPS1,missense_variant,p.Leu222Val,ENST00000372621,NM_001905.3;CTPS1,missense_variant,p.Leu222Val,ENST00000372616,;CTPS1,non_coding_transcript_exon_variant,,ENST00000479480,;CTPS1,non_coding_transcript_exon_variant,,ENST00000480420,;CTPS1,upstream_gene_variant,,ENST00000463285,;	G	ENST00000372621	Transcript	missense_variant	1172/3201	664/1776	222/591	L/V	Ctt/Gtt		1		1	CTPS1	HGNC	HGNC:2519	protein_coding	YES	CCDS459.1	ENSP00000361704	P17812		UPI0000132D63	NM_001905.3	tolerated(0.07)		7/19		HAMAP:MF_01227,hmmpanther:PTHR11550,hmmpanther:PTHR11550:SF8,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00337,Pfam_domain:PF06418,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	40991789	40991789	C	G	1	0	0	0	0	1	0	0	0	3831	565	20	4		4	CTPS1	1	40991789	Missense_Mutation	SNP	C	11LU016_TP	1561808	40991789	207964633	17	73											
ERMAP	0	.	GRCh38	chr1	42842537	42842537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcagtgaccctggacccaGacacagcacatcccaaactc	12	5	8	16	0	0	2	0	1	0	1	2	3	1	3	3	2	2	2	3	2	1	0	rs757264741		11LU016_TP	11LU016_NB	G	G																c.733G>A	p.Asp245Asn	p.D245N	ENST00000372517	12/12	84	76	8	99	99	0	strelka-varscan-mutect	ERMAP,missense_variant,p.Asp155Asn,ENST00000328249,;ERMAP,missense_variant,p.Asp245Asn,ENST00000372517,NM_001017922.1;ERMAP,missense_variant,p.Asp245Asn,ENST00000372514,NM_018538.3;ZNF691,upstream_gene_variant,,ENST00000372504,;ZNF691,upstream_gene_variant,,ENST00000372502,NM_001242739.1;ZNF691,upstream_gene_variant,,ENST00000372506,;ZNF691,upstream_gene_variant,,ENST00000372507,;ZNF691,upstream_gene_variant,,ENST00000372508,NM_015911.3;RP11-342M1.3,intron_variant,,ENST00000416809,;RP11-342M1.3,intron_variant,,ENST00000444563,;RP11-342M1.3,intron_variant,,ENST00000425076,;RP11-342M1.3,intron_variant,,ENST00000414798,;ERMAP,non_coding_transcript_exon_variant,,ENST00000487556,;	A	ENST00000372517	Transcript	missense_variant	977/3423	733/1428	245/475	D/N	Gac/Aac	rs757264741	1		1	ERMAP	HGNC	HGNC:15743	protein_coding	YES	CCDS475.1	ENSP00000361595	Q96PL5		UPI000007000D	NM_001017922.1	tolerated(0.1)		12/12		Pfam_domain:PF13765,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF46,SMART_domains:SM00589,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs757264741	.												A	3	1	2	42842537	42842537	G	A	1	0	0	0	0	1	0	0	0	5091	942	33	3		3	ERMAP	1	42842537	Missense_Mutation	SNP	G	11LU016_TP	1850748	42842537	206113885	18	74											
TTC22	0	.	GRCh38	chr1	54787828	54787828	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagatgccatctagccTgtggccgagaaggagatgtg	11	7	15	8	1	1	3	0	0	1	3	1	6	1	4	3	3	2	0	3	3	3	1	rs868843299		11LU016_TP	11LU016_NB	T	T																c.624-2A>T		p.X208_splice	ENST00000371276		161	136	25	190	190	0	strelka-varscan-mutect	TTC22,splice_acceptor_variant,,ENST00000371276,NM_001114108.1;TTC22,splice_acceptor_variant,,ENST00000371274,NM_017904.3;TTC22,upstream_gene_variant,,ENST00000448308,;TTC22,non_coding_transcript_exon_variant,,ENST00000488771,;TTC22,non_coding_transcript_exon_variant,,ENST00000474654,;	A	ENST00000371276	Transcript	splice_acceptor_variant	-/3345	624/1710	208/569			rs868843299	1		-1	TTC22	HGNC	HGNC:26067	protein_coding	YES	CCDS44152.1	ENSP00000360323	Q5TAA0		UPI0000470B73	NM_001114108.1				2/6																		HIGH	1	SNV	5			1										PASS		rs868843299	.												A	5	1	2	54787828	54787828	T	A	1	0	0	0	0	0	0	1	0	17197	1594	55	4		4	TTC22	1	54787828	Splice_Site	SNP	T	11LU016_TP	11945291	54787828	194168594	19	75											
LRRC7	0	.	GRCh38	chr1	70039739	70039739	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagctgtggtaaaatgccTgcagactggagacaacagct	13	7	13	8	0	0	3	0	0	0	3	0	5	0	3	1	2	5	4	1	2	3	1	novel		11LU016_TP	11LU016_NB	T	T																c.3801T>A	p.=	p.P1267P	ENST00000035383	19/25	62	55	7	74	74	0	strelka-varscan-mutect	LRRC7,synonymous_variant,p.=,ENST00000310961,;LRRC7,synonymous_variant,p.=,ENST00000035383,NM_020794.2;LRRC7,synonymous_variant,p.=,ENST00000415775,;	A	ENST00000035383	Transcript	synonymous_variant	3831/5000	3801/4614	1267/1537	P	ccT/ccA		1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2			19/25																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	70039739	70039739	T	A	1	0	0	0	0	0	0	0	1	8916	1567	55	4		4	LRRC7	1	70039739	Silent	SNP	T	11LU016_TP	15251911	70039739	178916683	20	76											
LRRIQ3	0	.	GRCh38	chr1	74041832	74041832	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctctctcaatactgcatTattcttcaatgaacctgaag	11	16	4	10	0	4	2	2	2	3	0	6	2	4	2	1	0	3	1	1	0	6	5	rs769394699		11LU016_TP	11LU016_NB	T	T																c.1099A>C	p.Asn367His	p.N367H	ENST00000354431	7/8	147	129	18	97	97	0	strelka-varscan-mutect	LRRIQ3,missense_variant,p.Asn367His,ENST00000354431,NM_001105659.1;LRRIQ3,missense_variant,p.Asn367His,ENST00000395089,;LRRIQ3,intron_variant,,ENST00000417067,;LRRIQ3,3_prime_UTR_variant,,ENST00000415760,;	G	ENST00000354431	Transcript	missense_variant	1291/2849	1099/1875	367/624	N/H	Aat/Cat	rs769394699	1		-1	LRRIQ3	HGNC	HGNC:28318	protein_coding	YES	CCDS41350.1	ENSP00000346414	A6PVS8		UPI000155D493	NM_001105659.1	tolerated(0.07)		7/8																			MODERATE	1	SNV	5			1										PASS		rs769394699	.												G	3	3	2	74041832	74041832	T	G	1	0	0	0	0	1	0	0	0	8936	1754	61	5		5	LRRIQ3	1	74041832	Missense_Mutation	SNP	T	11LU016_TP	4002093	74041832	174914590	21	77											
WDR63	0	.	GRCh38	chr1	85098619	85098619	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagaaaatggacataagaaAgtaattacagatatacactg	21	9	7	4	0	0	3	0	0	0	3	0	4	0	4	0	1	2	1	0	1	9	6	novel		11LU016_TP	11LU016_NB	A	A																c.1440A>T	p.Lys480Asn	p.K480N	ENST00000294664	13/23	173	163	10	204	204	0	strelka-varscan-mutect	WDR63,missense_variant,p.Lys480Asn,ENST00000294664,NM_145172.4;WDR63,missense_variant,p.Lys441Asn,ENST00000370596,;WDR63,missense_variant,p.Lys441Asn,ENST00000326813,NM_001288563.1;WDR63,3_prime_UTR_variant,,ENST00000464801,;	T	ENST00000294664	Transcript	missense_variant	1620/2995	1440/2676	480/891	K/N	aaA/aaT		1		1	WDR63	HGNC	HGNC:30711	protein_coding	YES	CCDS702.1	ENSP00000294664	Q8IWG1	A0A140VJZ8	UPI00000744F1	NM_145172.4	tolerated(0.18)		13/23		Gene3D:2.130.10.10,hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF5,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	85098619	85098619	A	T	1	0	0	0	0	1	0	0	0	17873	69	3	4		4	WDR63	1	85098619	Missense_Mutation	SNP	A	11LU016_TP	11056787	85098619	163857803	22	78											
COL24A1	0	.	GRCh38	chr1	85734803	85734803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtttactttaaaaatCtggccattccatcccttgaa	12	14	6	9	0	1	2	0	1	1	1	3	2	3	2	3	1	1	1	3	1	5	6	novel		11LU016_TP	11LU016_NB	C	C																c.4944G>T	p.Gln1648His	p.Q1648H	ENST00000370571	59/60	332	285	47	366	364	2	strelka-varscan-mutect	COL24A1,missense_variant,p.Gln1648His,ENST00000370571,NM_152890.5;COL24A1,3_prime_UTR_variant,,ENST00000426639,;COL24A1,3_prime_UTR_variant,,ENST00000473734,;	A	ENST00000370571	Transcript	missense_variant	5311/6825	4944/5145	1648/1714	Q/H	caG/caT		1		-1	COL24A1	HGNC	HGNC:20821	protein_coding	YES	CCDS41353.1	ENSP00000359603	Q17RW2		UPI000013E81F	NM_152890.5	tolerated(0.09)		59/60		PD002078,Pfam_domain:PF01410,PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF590,SMART_domains:SM00038																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	85734803	85734803	C	A	1	0	0	0	0	1	0	0	0	3471	912	32	2		2	COL24A1	1	85734803	Missense_Mutation	SNP	C	11LU016_TP	636184	85734803	163221619	23	79											
CLCA1	0	.	GRCh38	chr1	86489124	86489124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatccacacagtcgctttGgggccctctgcagctcaaga	9	9	9	14	1	3	1	2	0	1	1	5	1	4	1	2	2	2	3	2	2	1	1			11LU016_TP	11LU016_NB	G	G																c.1311G>T	p.Leu437Phe	p.L437F	ENST00000234701	9/15	175	164	11	201	201	0	strelka-varscan-mutect	CLCA1,missense_variant,p.Leu437Phe,ENST00000234701,;CLCA1,missense_variant,p.Leu437Phe,ENST00000394711,NM_001285.3;	T	ENST00000234701	Transcript	missense_variant	1662/3310	1311/2745	437/914	L/F	ttG/ttT	COSM212036	1		1	CLCA1	HGNC	HGNC:2015	protein_coding	YES	CCDS709.1	ENSP00000234701	A8K7I4		UPI00001AE689		deleterious(0.03)		9/15		PROSITE_profiles:PS50234,hmmpanther:PTHR10579:SF52,hmmpanther:PTHR10579,Gene3D:3.40.50.410,TIGRFAM_domain:TIGR00868,Pfam_domain:PF08434,SMART_domains:SM00327,Superfamily_domains:SSF53300											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	2	86489124	86489124	G	T	1	0	0	0	0	1	0	0	0	3221	1339	47	2		2	CLCA1	1	86489124	Missense_Mutation	SNP	G	11LU016_TP	754321	86489124	162467298	24	80											
CLCA4	0	.	GRCh38	chr1	86580010	86580010	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagttttgatgatgctcttCaagtaaatactactgatctg	12	15	7	7	0	3	3	1	3	2	0	3	3	3	3	0	0	3	3	0	0	5	6	novel		11LU016_TP	11LU016_NB	C	C																c.2425C>T	p.Gln809Ter	p.Q809*	ENST00000370563	14/14	107	91	16	107	107	0	strelka-varscan-mutect	CLCA4,stop_gained,p.Gln809Ter,ENST00000370563,NM_012128.3;RP4-651E10.4,intron_variant,,ENST00000456587,;	T	ENST00000370563	Transcript	stop_gained	2467/3211	2425/2760	809/919	Q/*	Caa/Taa		1		1	CLCA4	HGNC	HGNC:2018	protein_coding	YES	CCDS41355.1	ENSP00000359594	Q14CN2		UPI00000389E8	NM_012128.3			14/14		hmmpanther:PTHR10579:SF2,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868,Pfam_domain:PF08434																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	2	86580010	86580010	C	T	1	0	0	0	0	0	1	0	0	3223	827	29	3		3	CLCA4	1	86580010	Nonsense_Mutation	SNP	C	11LU016_TP	90886	86580010	162376412	25	81											
ABCA4	0	.	GRCh38	chr1	94048914	94048914	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctccgtttcctctgttagGggctcggtcttttccagggc	2	15	11	13	2	2	0	0	0	2	0	7	0	6	0	4	4	0	3	4	4	1	4	novel		11LU016_TP	11LU016_NB	G	G																c.2697C>T	p.=	p.P899P	ENST00000370225	18/50	353	325	28	326	326	0	strelka-varscan-mutect	ABCA4,synonymous_variant,p.=,ENST00000370225,NM_000350.2;ABCA4,intron_variant,,ENST00000536513,;	A	ENST00000370225	Transcript	synonymous_variant	2784/7309	2697/6822	899/2273	P	ccC/ccT		1		-1	ABCA4	HGNC	HGNC:34	protein_coding	YES	CCDS747.1	ENSP00000359245	P78363		UPI000012511C	NM_000350.2			18/50		Low_complexity_(Seg):seg,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	94048914	94048914	G	A	1	0	0	0	0	0	0	0	1	38	1219	43	3		3	ABCA4	1	94048914	Silent	SNP	G	11LU016_TP	7468904	94048914	154907508	26	82											
COL11A1	0	.	GRCh38	chr1	102995907	102995907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacctctgacaccatctgctCcctgtggaataaattagaag	12	10	8	11	0	2	2	0	1	2	1	3	4	3	3	3	1	1	1	3	1	5	2			11LU016_TP	11LU016_NB	C	C																c.2297G>A	p.Gly766Glu	p.G766E	ENST00000370096	28/67	263	229	34	266	266	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Gly778Glu,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Gly766Glu,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Gly727Glu,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Gly650Glu,ENST00000512756,NM_080630.3;COL11A1,missense_variant,p.Gly539Glu,ENST00000635193,;	T	ENST00000370096	Transcript	missense_variant,splice_region_variant	2610/7286	2297/5421	766/1806	G/E	gGa/gAa	COSM224805	1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0)		28/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	2	102995907	102995907	C	T	1	0	0	0	0	1	0	0	0	3455	869	30	3		3	COL11A1	1	102995907	Missense_Mutation	SNP	C	11LU016_TP	8946993	102995907	145960515	27	83											
AP4B1	0	.	GRCh38	chr1	113895763	113895763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggactgtttttacctgatgCggcaaaggatgaagttttag	11	13	12	5	1	0	2	0	2	0	0	0	4	0	4	1	3	2	3	1	3	4	5	rs190617142		11LU016_TP	11LU016_NB	C	C																c.1786G>C	p.Ala596Pro	p.A596P	ENST00000369569	9/10	155	143	12	170	170	0	strelka-varscan-mutect	AP4B1,missense_variant,p.Ala596Pro,ENST00000369569,NM_001253852.1;AP4B1,missense_variant,p.Ala596Pro,ENST00000256658,NM_001253853.1,NM_006594.3;AP4B1,missense_variant,p.Ala428Pro,ENST00000369567,NM_001308312.1;AP4B1,downstream_gene_variant,,ENST00000369564,;AP4B1,downstream_gene_variant,,ENST00000369571,;AP4B1,downstream_gene_variant,,ENST00000432415,;AP4B1-AS1,intron_variant,,ENST00000419536,;AP4B1,non_coding_transcript_exon_variant,,ENST00000462591,;AP4B1,non_coding_transcript_exon_variant,,ENST00000479285,;AP4B1,downstream_gene_variant,,ENST00000489499,;AP4B1,downstream_gene_variant,,ENST00000484201,;AP4B1,downstream_gene_variant,,ENST00000489092,;AP4B1,downstream_gene_variant,,ENST00000472122,;AP4B1,downstream_gene_variant,,ENST00000479801,;AP4B1,downstream_gene_variant,,ENST00000460653,;	G	ENST00000369569	Transcript	missense_variant	2067/2818	1786/2220	596/739	A/P	Gca/Cca	rs190617142	1		-1	AP4B1	HGNC	HGNC:572	protein_coding	YES	CCDS865.1	ENSP00000358582	Q9Y6B7	A0A024R0D2	UPI0000072F63	NM_001253852.1	tolerated(0.27)		9/10		PIRSF_domain:PIRSF002291,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF4																	MODERATE	1	SNV	1			1										PASS		rs190617142	.												G	3	3	2	113895763	113895763	C	G	1	0	0	0	0	1	0	0	0	867	768	27	4		4	AP4B1	1	113895763	Missense_Mutation	SNP	C	11LU016_TP	10899856	113895763	135060659	28	84											
DENND2C	0	.	GRCh38	chr1	114587742	114587742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacttttccgaagctctCggtcctggatgaatcctgca	7	12	8	14	2	1	1	0	1	1	0	6	3	5	2	4	2	2	2	4	2	2	2	rs199932240		11LU016_TP	11LU016_NB	C	C																c.2642G>T	p.Arg881Leu	p.R881L	ENST00000393274	19/21	76	56	20	67	67	0	strelka-varscan-mutect	DENND2C,missense_variant,p.Arg881Leu,ENST00000393274,NM_001256404.1;DENND2C,missense_variant,p.Arg824Leu,ENST00000393276,NM_198459.3;DENND2C,missense_variant,p.Arg881Leu,ENST00000393277,;DENND2C,non_coding_transcript_exon_variant,,ENST00000481894,;DENND2C,non_coding_transcript_exon_variant,,ENST00000495031,;	A	ENST00000393274	Transcript	missense_variant	3268/6163	2642/2787	881/928	R/L	cGa/cTa	rs199932240	1		-1	DENND2C	HGNC	HGNC:24748	protein_coding	YES	CCDS58018.1	ENSP00000376955	Q68D51		UPI000048AF71	NM_001256404.1	deleterious(0)		19/21		PROSITE_profiles:PS50947,hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF6,Pfam_domain:PF03455,SMART_domains:SM00801																	MODERATE	1	SNV	5			1										PASS		rs199932240	.												A	3	1	2	114587742	114587742	C	A	1	0	0	0	0	1	0	0	0	4234	884	31	1		1	DENND2C	1	114587742	Missense_Mutation	SNP	C	11LU016_TP	691979	114587742	134368680	29	85											
NOTCH2	0	.	GRCh38	chr1	119969557	119969573	+	Frame_Shift_Del	DEL	GATGCAGGTGGAGCCTG	GATGCAGGTGGAGCCTG	-																															gagaaggaggccacacggtcGatgcaggtggagcctggagt																								novel		11LU016_TP	11LU016_NB	GATGCAGGTGGAGCCTG	GATGCAGGTGGAGCCTG																c.1046_1062delCAGGCTCCACCTGCATC	p.Pro349ArgfsTer23	p.P349Rfs*23	ENST00000256646	6/34	471	384	87	398	398	0	sindel-varindel-pindel	NOTCH2,frameshift_variant,p.Pro349ArgfsTer23,ENST00000256646,NM_024408.3;NOTCH2,frameshift_variant,p.Pro310ArgfsTer23,ENST00000579475,;NOTCH2,non_coding_transcript_exon_variant,,ENST00000479412,;	-	ENST00000256646	Transcript	frameshift_variant	1266-1282/11389	1046-1062/7416	349-354/2471	PGSTCI/X	cCAGGCTCCACCTGCATC/c		1		-1	NOTCH2	HGNC	HGNC:7882	protein_coding	YES	CCDS908.1	ENSP00000256646	Q04721		UPI000013CF1D	NM_024408.3			6/34		Gene3D:2.10.25.10,PIRSF_domain:PIRSF002279,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF66,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	2	119969557	119969557	GATGCAGGTGGAGCCTG	-	1	0	1	0	1	0	0	0	0	10593	1048	37	0		0	NOTCH2	1	119969557	Frame_Shift_Del	DEL	GATGCAGGTGGAGCCTG	11LU016_TP	5381815	119969557	128986865	30	86											
POLR3GL	0	.	GRCh38	chr1	145974907	145974907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggggtcgtggccggggccaGttgaccttcaacgtggaggc	5	7	18	11	4	1	1	1	1	0	0	2	2	1	2	3	7	1	1	3	7	1	2	novel		11LU016_TP	11LU016_NB	G	G																c.42G>T	p.Gln14His	p.Q14H	ENST00000369314	2/8	37	28	9	53	53	0	strelka-varscan-mutect	POLR3GL,missense_variant,p.Gln14His,ENST00000369314,NM_032305.1;POLR3GL,missense_variant,p.Gln14His,ENST00000369313,;CH17-270A2.2,intron_variant,,ENST00000625258,;CH17-270A2.2,intron_variant,,ENST00000630636,;POLR3GL,non_coding_transcript_exon_variant,,ENST00000622508,;POLR3GL,non_coding_transcript_exon_variant,,ENST00000471706,;	T	ENST00000369314	Transcript	missense_variant	149/1165	42/657	14/218	Q/H	caG/caT		1		1	POLR3GL	HGNC	HGNC:28466	protein_coding	YES	CCDS72875.1	ENSP00000358320	Q9BT43		UPI000006F290	NM_032305.1	tolerated(0.09)		2/8		Pfam_domain:PF11705,hmmpanther:PTHR15367,hmmpanther:PTHR15367:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	145974907	145974907	G	T	1	0	0	0	0	1	0	0	0	12346	1020	36	2		2	POLR3GL	1	145974907	Missense_Mutation	SNP	G	11LU016_TP	26005350	145974907	102981515	31	87											
ANP32E	0	.	GRCh38	chr1	150226725	150226725	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcttcctcttcctcCtcctcttcctcatatccttc	2	18	0	21	0	4	0	1	0	3	0	13	0	12	0	8	0	0	0	8	0	1	5	novel		11LU016_TP	11LU016_NB	C	C																c.564G>A	p.=	p.E188E	ENST00000583931	5/7	186	175	11	166	164	2	varscan-mutect	ANP32E,missense_variant,p.Arg133Lys,ENST00000533654,NM_001280560.1;ANP32E,synonymous_variant,p.=,ENST00000583931,NM_001280559.1,NM_030920.4;ANP32E,synonymous_variant,p.=,ENST00000629042,;ANP32E,synonymous_variant,p.=,ENST00000616917,NM_001136479.2;ANP32E,synonymous_variant,p.=,ENST00000436748,NM_001136478.3;ANP32E,synonymous_variant,p.=,ENST00000369115,;ANP32E,synonymous_variant,p.=,ENST00000534437,;ANP32E,synonymous_variant,p.=,ENST00000534220,;ANP32E,intron_variant,,ENST00000369114,;ANP32E,downstream_gene_variant,,ENST00000532744,;	T	ENST00000583931	Transcript	synonymous_variant	934/3451	564/807	188/268	E	gaG/gaA		1		-1	ANP32E	HGNC	HGNC:16673	protein_coding	YES	CCDS946.1	ENSP00000463154	Q9BTT0		UPI0000071679	NM_001280559.1,NM_030920.4			5/7		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11375:SF5,hmmpanther:PTHR11375																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	150226725	150226725	C	T	1	0	0	0	0	0	0	0	1	816	681	24	3		3	ANP32E	1	150226725	Silent	SNP	C	11LU016_TP	4251818	150226725	98729697	32	88											
HRNR	0	.	GRCh38	chr1	152219536	152219536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtgaccaaagccggaaGactggcctgagacagaccca	13	5	11	12	1	0	4	0	2	0	3	0	6	0	5	4	2	1	0	4	2	2	1			11LU016_TP	11LU016_NB	G	G																c.2093C>A	p.Ser698Tyr	p.S698Y	ENST00000368801	3/3	529	414	115	552	551	1	strelka-varscan-mutect	HRNR,missense_variant,p.Ser698Tyr,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368801	Transcript	missense_variant	2169/9623	2093/8553	698/2850	S/Y	tCt/tAt	COSM675375	1		-1	HRNR	HGNC	HGNC:20846	protein_coding	YES	CCDS30859.1	ENSP00000357791	Q86YZ3		UPI00001D7CAD	NM_001009931.2	tolerated(0.05)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	2	152219536	152219536	G	T	1	0	0	0	0	1	0	0	0	7254	942	33	2		2	HRNR	1	152219536	Missense_Mutation	SNP	G	11LU016_TP	1992811	152219536	96736886	33	89											
FLG	0	.	GRCh38	chr1	152304935	152304935	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttgtccacgcggaatGcctgagtgtctggagctgtc	7	10	14	10	2	1	1	0	1	1	0	3	4	2	3	2	2	3	2	2	2	2	1	novel		11LU016_TP	11LU016_NB	G	G																c.9951C>T	p.=	p.G3317G	ENST00000368799	3/3	566	476	90	496	496	0	strelka-varscan-mutect	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	A	ENST00000368799	Transcript	synonymous_variant	9987/12747	9951/12186	3317/4061	G	ggC/ggT		1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1			3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571,Pfam_domain:PF03516																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	152304935	152304935	G	A	1	0	0	0	0	0	0	0	1	5784	1306	46	3		3	FLG	1	152304935	Silent	SNP	G	11LU016_TP	85399	152304935	96651487	34	90											
C1orf68	0	.	GRCh38	chr1	152720184	152720184	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctgcagctgtggatgTggcagctctgggtgctgctg	3	12	18	8	0	1	0	0	0	1	0	1	1	1	1	0	4	5	7	0	4	0	0	novel		11LU016_TP	11LU016_NB	T	T																c.663T>A	p.Cys221Ter	p.C221*	ENST00000368775	1/1	147	118	29	160	160	0	strelka-varscan-mutect	C1orf68,stop_gained,p.Cys221Ter,ENST00000368775,NM_001024679.2;	A	ENST00000368775	Transcript	stop_gained	663/949	663/753	221/250	C/*	tgT/tgA		1		1	C1orf68	HGNC	HGNC:29468	protein_coding	YES	CCDS44226.1	ENSP00000357764	Q5T750		UPI00001C1D9F	NM_001024679.2			1/1		hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF4,Low_complexity_(Seg):seg																	HIGH	1	SNV				1										PASS		.	.												A	4	1	2	152720184	152720184	T	A	1	0	0	0	0	0	1	0	0	1997	1702	59	4		4	C1orf68	1	152720184	Nonsense_Mutation	SNP	T	11LU016_TP	415249	152720184	96236238	35	91											
LCE1D	0	.	GRCh38	chr1	152797907	152797907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taagtgccctccagtctcttCctgctgcagtgtcagctccg	5	12	9	15	1	2	0	1	0	1	0	6	0	5	0	4	0	4	3	4	0	1	2	rs764963989		11LU016_TP	11LU016_NB	C	C																c.113C>A	p.Ser38Tyr	p.S38Y	ENST00000326233	2/2	623	520	103	513	512	1	strelka-varscan-mutect	LCE1D,missense_variant,p.Ser38Tyr,ENST00000326233,NM_178352.2;	A	ENST00000326233	Transcript	missense_variant	156/430	113/345	38/114	S/Y	tCc/tAc	rs764963989,COSM3474279	1		1	LCE1D	HGNC	HGNC:29465	protein_coding	YES	CCDS1025.1	ENSP00000316737	Q5T752		UPI0000192765	NM_178352.2			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR23263											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs764963989	.												A	3	1	2	152797907	152797907	C	A	1	0	0	0	0	1	0	0	0	8567	855	30	2		2	LCE1D	1	152797907	Missense_Mutation	SNP	C	11LU016_TP	77723	152797907	96158515	36	92											
CHRNB2	0	.	GRCh38	chr1	154571912	154571912	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtcagcgcctgcgcctGcggcgacgccagcgtgagcg	4	4	16	17	8	1	1	1	1	0	0	1	2	1	1	4	1	5	0	4	1	0	0	novel		11LU016_TP	11LU016_NB	G	G																c.1089G>T	p.=	p.L363L	ENST00000368476	5/6	482	333	149	660	659	1	strelka-varscan-mutect	CHRNB2,synonymous_variant,p.=,ENST00000368476,NM_000748.2;CHRNB2,synonymous_variant,p.=,ENST00000637900,;CHRNB2,upstream_gene_variant,,ENST00000635876,;CHRNB2,synonymous_variant,p.=,ENST00000636034,;CHRNB2,downstream_gene_variant,,ENST00000636695,;	T	ENST00000368476	Transcript	synonymous_variant	1353/5867	1089/1509	363/502	L	ctG/ctT		1		1	CHRNB2	HGNC	HGNC:1962	protein_coding	YES	CCDS1070.1	ENSP00000357461	P17787	Q5SXY3	UPI000012526E	NM_000748.2			5/6		Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF80,Low_complexity_(Seg):seg,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860																	LOW	1	SNV	1			1										PASS		rs930562574	.												T	2	4	2	154571912	154571912	G	T	1	0	0	0	0	0	0	0	1	3151	1306	46	2		2	CHRNB2	1	154571912	Silent	SNP	G	11LU016_TP	1774005	154571912	94384510	37	93											
MUC1	0	.	GRCh38	chr1	155192238	155192238	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgggtagccgaagtctccTtttctccacctggggtagag	6	12	12	11	1	3	1	0	0	3	1	5	2	3	1	4	3	1	2	4	3	3	4	rs745939858		11LU016_TP	11LU016_NB	T	T																c.131A>T	p.Lys44Met	p.K44M	ENST00000612778	2/8	527	491	36	435	435	0	strelka-varscan-mutect	MUC1,missense_variant,p.Lys35Met,ENST00000611571,;MUC1,missense_variant,p.Lys44Met,ENST00000612778,NM_001204286.1;MUC1,missense_variant,p.Lys35Met,ENST00000620103,NM_001204285.1;MUC1,missense_variant,p.Lys44Met,ENST00000462215,;MUC1,missense_variant,p.Lys44Met,ENST00000457295,;MUC1,missense_variant,p.Lys44Met,ENST00000338684,NM_001204289.1,NM_001204291.1;MUC1,missense_variant,p.Lys44Met,ENST00000610359,NM_001204292.1;MUC1,missense_variant,p.Lys44Met,ENST00000614519,;MUC1,missense_variant,p.Lys44Met,ENST00000368392,NM_001018016.2,NM_001204288.1;MUC1,missense_variant,p.Lys32Met,ENST00000611577,;MUC1,missense_variant,p.Lys44Met,ENST00000615517,NM_001204295.1;MUC1,missense_variant,p.Lys35Met,ENST00000368393,NM_001204293.1;MUC1,missense_variant,p.Lys35Met,ENST00000438413,NM_001204290.1;MUC1,missense_variant,p.Lys35Met,ENST00000337604,NM_001204287.1,NM_002456.5;MUC1,missense_variant,p.Lys35Met,ENST00000368390,NM_001018017.2;MUC1,missense_variant,p.Lys35Met,ENST00000368398,NM_001204294.1;MUC1,missense_variant,p.Lys35Met,ENST00000343256,NM_001044390.2,NM_001204296.1;MUC1,missense_variant,p.Lys35Met,ENST00000471283,NM_001044393.2;MUC1,missense_variant,p.Lys35Met,ENST00000368389,NM_001204297.1;MUC1,missense_variant,p.Lys44Met,ENST00000342482,;MUC1,missense_variant,p.Lys44Met,ENST00000368396,NM_001044392.2,NM_001044391.2;THBS3,downstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,downstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,downstream_gene_variant,,ENST00000541990,;THBS3,downstream_gene_variant,,ENST00000457183,NM_001252608.1;MUC1,upstream_gene_variant,,ENST00000462317,;MUC1,upstream_gene_variant,,ENST00000485118,;AC234582.2,downstream_gene_variant,,ENST00000623940,;AC234582.1,downstream_gene_variant,,ENST00000624572,;MIR92B,upstream_gene_variant,,ENST00000607575,;MIR92B,upstream_gene_variant,,ENST00000447623,;MUC1,non_coding_transcript_exon_variant,,ENST00000466913,;MUC1,missense_variant,p.Lys35Met,ENST00000610468,;MUC1,missense_variant,p.Lys35Met,ENST00000498431,;MUC1,missense_variant,p.Lys44Met,ENST00000467134,;MUC1,non_coding_transcript_exon_variant,,ENST00000620770,;MUC1,upstream_gene_variant,,ENST00000468978,;THBS3,downstream_gene_variant,,ENST00000469769,;THBS3,downstream_gene_variant,,ENST00000498500,;RP11-201K10.3,upstream_gene_variant,,ENST00000473363,;	A	ENST00000612778	Transcript	missense_variant	203/1836	131/1455	44/484	K/M	aAg/aTg	rs745939858	1		-1	MUC1	HGNC	HGNC:7508	protein_coding	YES	CCDS72933.1	ENSP00000484824		A0A087X2A4	UPI000059C524	NM_001204286.1	tolerated(0.15)		2/8		hmmpanther:PTHR10006:SF8,hmmpanther:PTHR10006																	MODERATE		SNV	5			1										PASS		rs745939858	.												A	3	1	2	155192238	155192238	T	A	1	0	0	0	0	1	0	0	0	9968	1609	56	4		4	MUC1	1	155192238	Missense_Mutation	SNP	T	11LU016_TP	620326	155192238	93764184	38	94											
FCRL1	0	.	GRCh38	chr1	157796103	157796103	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatcttccataaccttacAtagcatcttcatagtccaca	14	12	3	12	0	3	1	1	0	2	1	5	1	5	1	3	0	3	1	3	0	5	6	novel		11LU016_TP	11LU016_NB	A	A																c.1286T>G	p.Met429Arg	p.M429R	ENST00000368176	11/11	144	114	30	142	142	0	strelka-varscan-mutect	FCRL1,missense_variant,p.Met429Arg,ENST00000368176,NM_052938.4;FCRL1,missense_variant,p.Met428Arg,ENST00000491942,NM_001159398.1;FCRL1,3_prime_UTR_variant,,ENST00000358292,NM_001159397.1;FCRL1,non_coding_transcript_exon_variant,,ENST00000489998,;FCRL1,non_coding_transcript_exon_variant,,ENST00000368175,;FCRL1,non_coding_transcript_exon_variant,,ENST00000463001,;FCRL1,non_coding_transcript_exon_variant,,ENST00000495126,;	C	ENST00000368176	Transcript	missense_variant	1354/2596	1286/1290	429/429	M/R	aTg/aGg		1		-1	FCRL1	HGNC	HGNC:18509	protein_coding	YES	CCDS1170.1	ENSP00000357158	Q96LA6		UPI000006E5BD	NM_052938.4	deleterious(0)		11/11																			MODERATE	1	SNV	1			1										PASS		rs1425178243	.												C	3	2	2	157796103	157796103	A	C	1	0	0	0	0	1	0	0	0	5657	217	8	5		5	FCRL1	1	157796103	Missense_Mutation	SNP	A	11LU016_TP	2603865	157796103	91160319	39	95											
OR10R2	0	.	GRCh38	chr1	158480091	158480091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttatcagtgtcatccacctgGataaaagcctccacacacca	13	9	5	14	0	2	0	2	0	0	0	4	1	4	1	5	1	1	0	5	1	3	2	rs775943308		11LU016_TP	11LU016_NB	G	G																c.214G>C	p.Asp72His	p.D72H	ENST00000368152	1/1	183	124	59	179	179	0	strelka-varscan-mutect	OR10R2,missense_variant,p.Asp72His,ENST00000368152,NM_001004472.1;RP11-144L1.4,non_coding_transcript_exon_variant,,ENST00000419738,;RP11-144L1.4,intron_variant,,ENST00000426251,;	C	ENST00000368152	Transcript	missense_variant	214/1008	214/1008	72/335	D/H	Gat/Cat	rs775943308	1		1	OR10R2	HGNC	HGNC:14820	protein_coding	YES	CCDS30898.1	ENSP00000357134	Q8NGX6		UPI000004CA1C	NM_001004472.1	deleterious(0.03)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF42,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs775943308	.												C	3	2	2	158480091	158480091	G	C	1	0	0	0	0	1	0	0	0	10994	1174	41	4		4	OR10R2	1	158480091	Missense_Mutation	SNP	G	11LU016_TP	683988	158480091	90476331	40	96											
SPTA1	0	.	GRCh38	chr1	158666373	158666373	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgagtcgattctgtacCtcggccaggcctttcccata	6	13	8	14	2	1	1	0	1	1	0	5	2	3	1	5	2	1	1	5	2	2	5	novel		11LU016_TP	11LU016_NB	C	C																c.2163G>T	p.Glu721Asp	p.E721D	ENST00000368147	16/52	430	341	89	292	291	1	strelka-varscan-mutect	SPTA1,missense_variant,p.Glu721Asp,ENST00000368147,NM_003126.2;	A	ENST00000368147	Transcript	missense_variant	2344/7999	2163/7260	721/2419	E/D	gaG/gaT		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	tolerated(0.76)		16/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	158666373	158666373	C	A	1	0	0	0	0	1	0	0	0	15472	680	24	2		2	SPTA1	1	158666373	Missense_Mutation	SNP	C	11LU016_TP	186282	158666373	90290049	41	97											
MNDA	0	.	GRCh38	chr1	158845887	158845887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgtgtctgactttaatCaaaattttgaggtcccaaac	12	14	6	9	0	3	2	1	2	2	0	4	2	4	2	1	1	1	0	1	1	4	4	novel		11LU016_TP	11LU016_NB	C	C																c.871C>A	p.Gln291Lys	p.Q291K	ENST00000368141	5/7	197	159	38	171	171	0	strelka-varscan-mutect	MNDA,missense_variant,p.Gln291Lys,ENST00000368141,NM_002432.1;MNDA,upstream_gene_variant,,ENST00000438394,;MNDA,downstream_gene_variant,,ENST00000491210,;	A	ENST00000368141	Transcript	missense_variant	1132/1752	871/1224	291/407	Q/K	Caa/Aaa		1		1	MNDA	HGNC	HGNC:7183	protein_coding	YES	CCDS1177.1	ENSP00000357123	P41218	Q5VUU6	UPI0000001609	NM_002432.1	deleterious(0.04)		5/7		Gene3D:2.40.50.140,Pfam_domain:PF02760,PROSITE_profiles:PS50834,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF18,Superfamily_domains:SSF159141																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	158845887	158845887	C	A	1	0	0	0	0	1	0	0	0	9640	827	29	2		2	MNDA	1	158845887	Missense_Mutation	SNP	C	11LU016_TP	179514	158845887	90110535	42	98											
F5	0	.	GRCh38	chr1	169542877	169542877	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaatgatgagtttcggaatGacctgattcctaatgctgca	11	13	9	8	1	1	4	1	4	0	0	3	5	2	5	2	1	2	3	2	1	3	3	novel		11LU016_TP	11LU016_NB	G	G																c.2213C>G	p.Ser738Ter	p.S738*	ENST00000367797	13/25	278	215	63	205	205	0	strelka-varscan	F5,stop_gained,p.Ser743Ter,ENST00000367796,;F5,stop_gained,p.Ser738Ter,ENST00000367797,NM_000130.4;	C	ENST00000367797	Transcript	stop_gained	2415/7024	2213/6675	738/2224	S/*	tCa/tGa		1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4			13/25		PIRSF_domain:PIRSF000354																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	2	169542877	169542877	G	C	1	0	0	0	0	0	1	0	0	5216	1294	45	4		4	F5	1	169542877	Nonsense_Mutation	SNP	G	11LU016_TP	10696990	169542877	79413545	43	99											
FMO1	0	.	GRCh38	chr1	171278797	171278797	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagatatatttaaggacAagagagtccttgtgattgga	14	12	10	5	0	0	3	0	1	0	2	2	6	2	5	2	2	0	0	2	2	4	6	novel		11LU016_TP	11LU016_NB	A	A																c.553A>T	p.Lys185Ter	p.K185*	ENST00000617670	5/9	144	134	10	134	134	0	strelka-varscan	FMO1,stop_gained,p.Lys185Ter,ENST00000617670,NM_001282693.1,NM_002021.2;FMO1,stop_gained,p.Lys185Ter,ENST00000354841,NM_001282692.1;FMO1,stop_gained,p.Lys185Ter,ENST00000367750,;FMO1,stop_gained,p.Lys122Ter,ENST00000402921,NM_001282694.1;FMO1,stop_gained,p.Lys185Ter,ENST00000433267,;FMO1,non_coding_transcript_exon_variant,,ENST00000469112,;FMO1,non_coding_transcript_exon_variant,,ENST00000472893,;FMO1,upstream_gene_variant,,ENST00000469711,;	T	ENST00000617670	Transcript	stop_gained	712/2192	553/1599	185/532	K/*	Aag/Tag		1		1	FMO1	HGNC	HGNC:3769	protein_coding	YES	CCDS1294.1	ENSP00000481732	Q01740	A0A024R934	UPI000000DBBA	NM_001282693.1,NM_002021.2			5/9		Gene3D:3.50.50.60,Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,Prints_domain:PR00370,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF84,Superfamily_domains:SSF51905																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	2	171278797	171278797	A	T	1	0	0	0	0	0	1	0	0	5810	131	5	4		4	FMO1	1	171278797	Nonsense_Mutation	SNP	A	11LU016_TP	1735920	171278797	77677625	44	100											
TNR	0	.	GRCh38	chr1	175403333	175403333	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggcacctcagttccctGcagtcctcgccagtgtaggg	6	8	12	15	1	1	0	1	0	0	0	4	0	3	0	5	2	1	4	5	2	1	2	novel		11LU016_TP	11LU016_NB	G	G																c.783C>T	p.=	p.C261C	ENST00000367674	4/23	372	315	57	294	294	0	strelka-varscan	TNR,synonymous_variant,p.=,ENST00000367674,;TNR,synonymous_variant,p.=,ENST00000263525,NM_003285.2;TNR,intron_variant,,ENST00000422274,;	A	ENST00000367674	Transcript	synonymous_variant	1492/12949	783/4077	261/1358	C	tgC/tgT		1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C				4/23		Gene3D:2.10.25.10,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF254,SMART_domains:SM00181																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	2	175403333	175403333	G	A	1	0	0	0	0	0	0	0	1	16811	1311	46	3		3	TNR	1	175403333	Silent	SNP	G	11LU016_TP	4124536	175403333	73553089	45	101											
PAPPA2	0	.	GRCh38	chr1	176556694	176556694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggggtgcagttgaagaGccggctgccccatgggtagg	7	7	18	9	1	0	3	0	2	0	1	0	3	0	3	3	5	3	4	3	5	2	2	rs757885352		11LU016_TP	11LU016_NB	G	G																c.372G>T	p.Glu124Asp	p.E124D	ENST00000367662	2/23	196	147	49	158	158	0	strelka-varscan	PAPPA2,missense_variant,p.Glu124Asp,ENST00000367662,NM_020318.2;PAPPA2,missense_variant,p.Glu124Asp,ENST00000367661,NM_021936.2;PAPPA2,downstream_gene_variant,,ENST00000486075,;PAPPA2,downstream_gene_variant,,ENST00000493665,;	T	ENST00000367662	Transcript	missense_variant	1536/9691	372/5376	124/1791	E/D	gaG/gaT	rs757885352,COSM3359466,COSM3359467	1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2	tolerated_low_confidence(0.22)		2/23													0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		.	.												T	3	4	2	176556694	176556694	G	T	1	0	0	0	0	1	0	0	0	11513	962	34	2		2	PAPPA2	1	176556694	Missense_Mutation	SNP	G	11LU016_TP	1153361	176556694	72399728	46	102											
AXDND1	0	.	GRCh38	chr1	179528430	179528430	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagatgtgttgtcttcctGggtatgtatctgaaacccag	10	13	10	8	0	2	2	0	1	2	1	3	2	3	2	2	1	2	3	2	1	4	4			11LU016_TP	11LU016_NB	G	G																c.2714G>T	p.Trp905Leu	p.W905L	ENST00000367618	23/26	137	125	12	110	110	0	strelka-varscan	AXDND1,missense_variant,p.Trp905Leu,ENST00000367618,NM_144696.5;AXDND1,missense_variant,p.Trp765Leu,ENST00000434088,;AXDND1,splice_region_variant,,ENST00000617277,;AXDND1,splice_region_variant,,ENST00000484883,;AXDND1,splice_region_variant,,ENST00000511157,;	T	ENST00000367618	Transcript	missense_variant,splice_region_variant	3101/3642	2714/3039	905/1012	W/L	tGg/tTg	COSM5689838	1		1	AXDND1	HGNC	HGNC:26564	protein_coding	YES	CCDS30948.1	ENSP00000356590	Q5T1B0		UPI000022AC91	NM_144696.5	tolerated(0.51)		23/26		hmmpanther:PTHR23052											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	2	179528430	179528430	G	T	1	0	0	0	0	1	0	0	0	1392	1362	47	2		2	AXDND1	1	179528430	Missense_Mutation	SNP	G	11LU016_TP	2971736	179528430	69427992	47	103											
LHX9	0	.	GRCh38	chr1	197921653	197921653	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggacatcgtcaattacAactcaggtgtgcctcctatc	10	11	9	11	1	2	0	2	0	0	0	5	2	3	1	2	2	3	0	2	2	4	2	novel		11LU016_TP	11LU016_NB	A	A																c.727A>C	p.Asn243His	p.N243H	ENST00000367387	3/5	58	46	12	37	37	0	strelka-varscan	LHX9,missense_variant,p.Asn243His,ENST00000367387,NM_020204.2;LHX9,missense_variant,p.Asn234His,ENST00000367390,NM_001014434.1;LHX9,missense_variant,p.Asn249His,ENST00000561173,;LHX9,missense_variant,p.Asn234His,ENST00000367391,;LHX9,downstream_gene_variant,,ENST00000367388,;LHX9,downstream_gene_variant,,ENST00000606127,;LHX9,downstream_gene_variant,,ENST00000475727,;	C	ENST00000367387	Transcript	missense_variant	1152/7836	727/1194	243/397	N/H	Aac/Cac		1		1	LHX9	HGNC	HGNC:14222	protein_coding	YES	CCDS1393.1	ENSP00000356357	Q9NQ69		UPI00001B6453	NM_020204.2	deleterious(0.04)		3/5		hmmpanther:PTHR24208																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	2	197921653	197921653	A	C	1	0	0	0	0	1	0	0	0	8686	130	5	5		5	LHX9	1	197921653	Missense_Mutation	SNP	A	11LU016_TP	18393223	197921653	51034769	48	104											
ESRRG	0	.	GRCh38	chr1	216677146	216677146	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagtggtacccagaagcGatgtcaccacacactaaaca	15	6	7	13	1	1	1	1	0	0	1	1	2	1	1	3	1	3	1	3	1	5	3	rs553364135		11LU016_TP	11LU016_NB	G	G																c.417C>A	p.=	p.I139I	ENST00000366937	3/8	225	175	50	140	140	0	strelka-varscan	ESRRG,synonymous_variant,p.=,ENST00000391890,NM_001243515.1,NM_001243519.1;ESRRG,synonymous_variant,p.=,ENST00000360012,NM_001243514.1;ESRRG,synonymous_variant,p.=,ENST00000366937,NM_001243518.1;ESRRG,synonymous_variant,p.=,ENST00000361525,NM_206594.2;ESRRG,synonymous_variant,p.=,ENST00000366940,NM_001134285.2,NM_001243511.2;ESRRG,synonymous_variant,p.=,ENST00000493603,NM_001243510.2;ESRRG,synonymous_variant,p.=,ENST00000366938,NM_001243513.1;ESRRG,synonymous_variant,p.=,ENST00000361395,;ESRRG,synonymous_variant,p.=,ENST00000408911,NM_001438.3;ESRRG,synonymous_variant,p.=,ENST00000359162,NM_206595.2,NM_001243506.1;ESRRG,synonymous_variant,p.=,ENST00000616180,;ESRRG,synonymous_variant,p.=,ENST00000463665,NM_001243507.1;ESRRG,synonymous_variant,p.=,ENST00000487276,NM_001243512.1;ESRRG,synonymous_variant,p.=,ENST00000493748,NM_001243509.1;ESRRG,synonymous_variant,p.=,ENST00000475275,;ESRRG,downstream_gene_variant,,ENST00000481543,;ESRRG,downstream_gene_variant,,ENST00000469486,;ESRRG,downstream_gene_variant,,ENST00000459955,;ESRRG,intron_variant,,ENST00000586199,;	T	ENST00000366937	Transcript	synonymous_variant	684/5365	417/1413	139/470	I	atC/atA	rs553364135,COSM234679	1		-1	ESRRG	HGNC	HGNC:3474	protein_coding	YES	CCDS58061.1	ENSP00000355904	P62508		UPI0000D4BFAB	NM_001243518.1			3/8		PROSITE_profiles:PS51030,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF21,PROSITE_patterns:PS00031,PIRSF_domain:PIRSF500939,PIRSF_domain:PIRSF002527,Pfam_domain:PF00105,Gene3D:3.30.50.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												T	2	4	2	216677146	216677146	G	T	1	0	0	0	0	0	0	0	1	5124	1048	37	1		1	ESRRG	1	216677146	Silent	SNP	G	11LU016_TP	18755493	216677146	32279276	49	105											
RAB3GAP2	0	.	GRCh38	chr1	220157336	220157336	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgactgcatacaagatGgagcacaggatggagtggtg	12	8	14	7	0	1	2	1	1	0	1	1	5	1	5	0	4	3	2	0	4	2	1	novel		11LU016_TP	11LU016_NB	G	G																c.3489C>T	p.=	p.S1163S	ENST00000358951	31/35	416	393	23	329	329	0	strelka-varscan	RAB3GAP2,synonymous_variant,p.=,ENST00000358951,NM_012414.3;RAB3GAP2,upstream_gene_variant,,ENST00000491005,;RAB3GAP2,upstream_gene_variant,,ENST00000474966,;RAB3GAP2,upstream_gene_variant,,ENST00000491305,;	A	ENST00000358951	Transcript	synonymous_variant	3606/7257	3489/4182	1163/1393	S	tcC/tcT		1		-1	RAB3GAP2	HGNC	HGNC:17168	protein_coding	YES	CCDS31028.1	ENSP00000351832	Q9H2M9		UPI0000072269	NM_012414.3			31/35		Pfam_domain:PF14656,hmmpanther:PTHR12472																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	220157336	220157336	G	A	1	0	0	0	0	0	0	0	1	13095	1335	47	3		3	RAB3GAP2	1	220157336	Silent	SNP	G	11LU016_TP	3480190	220157336	28799086	50	106											
MARK1	0	.	GRCh38	chr1	220650673	220650673	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaatacatatgtctgtgaAaggaccacagatcgatacgt	15	9	10	7	2	1	2	0	1	1	1	2	5	1	4	1	2	2	0	1	2	5	3	novel		11LU016_TP	11LU016_NB	A	A																c.1524A>T	p.Glu508Asp	p.E508D	ENST00000611084	14/18	148	122	26	136	136	0	strelka-varscan	MARK1,missense_variant,p.Glu508Asp,ENST00000611084,NM_001286124.1;MARK1,missense_variant,p.Glu508Asp,ENST00000402574,NM_001286126.1;MARK1,missense_variant,p.Glu486Asp,ENST00000366918,NM_001286128.1;MARK1,missense_variant,p.Glu508Asp,ENST00000366917,NM_018650.4;	T	ENST00000611084	Transcript	missense_variant	2164/5321	1524/2391	508/796	E/D	gaA/gaT		1		1	MARK1	HGNC	HGNC:6896	protein_coding	YES	CCDS73033.1	ENSP00000483424		A0A087X0I6	UPI0000E592B1	NM_001286124.1	tolerated(0.16)		14/18		hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF21																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	220650673	220650673	A	T	1	0	0	0	0	1	0	0	0	9237	11	1	4		4	MARK1	1	220650673	Missense_Mutation	SNP	A	11LU016_TP	493337	220650673	28305749	51	107											
HIST3H2A	0	.	GRCh38	chr1	228457437	228457437	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcggcctcacttgcccttGgccttgtggtggctctccgt	1	12	14	14	2	2	0	1	0	1	0	3	0	2	0	4	5	1	1	4	5	0	3	rs866126653		11LU016_TP	11LU016_NB	G	G																c.381C>A	p.=	p.A127A	ENST00000366695	1/1	246	185	61	216	216	0	strelka-varscan	HIST3H2A,synonymous_variant,p.=,ENST00000366695,NM_033445.2;HIST3H2BB,upstream_gene_variant,,ENST00000620438,NM_175055.2;MIR4666A,upstream_gene_variant,,ENST00000580160,;	T	ENST00000366695	Transcript	synonymous_variant	437/895	381/393	127/130	A	gcC/gcA	rs866126653	1		-1	HIST3H2A	HGNC	HGNC:20507	protein_coding	YES	CCDS1573.1	ENSP00000355656	Q7L7L0		UPI0000073CEF	NM_033445.2			1/1		hmmpanther:PTHR23430,Gene3D:1.10.20.10,Superfamily_domains:SSF47113																	LOW	1	SNV				1										PASS		.	.												T	2	4	2	228457437	228457437	G	T	1	0	0	0	0	0	0	0	1	7071	1335	47	2		2	HIST3H2A	1	228457437	Silent	SNP	G	11LU016_TP	7806764	228457437	20498985	52	108											
RGS7	0	.	GRCh38	chr1	240801464	240801464	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaacttaccacattctgTgcaaatttttcaaaagatgt	15	15	4	7	0	2	1	1	0	1	1	2	1	2	1	1	0	3	1	1	0	6	5	novel		11LU016_TP	11LU016_NB	T	T																c.1404A>G	p.=	p.A468A	ENST00000366565	17/18	354	335	19	250	250	0	strelka-varscan	RGS7,synonymous_variant,p.=,ENST00000366565,NM_002924.5;RGS7,synonymous_variant,p.=,ENST00000440928,;RGS7,intron_variant,,ENST00000366564,NM_001282778.1;RGS7,intron_variant,,ENST00000366563,NM_001282775.1;RGS7,intron_variant,,ENST00000348120,NM_001282773.1;	C	ENST00000366565	Transcript	synonymous_variant	1786/2494	1404/1464	468/487	A	gcA/gcG		1		-1	RGS7	HGNC	HGNC:10003	protein_coding	YES	CCDS31071.1	ENSP00000355523	P49802		UPI000040E182	NM_002924.5			17/18		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF26																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	2	240801464	240801464	T	C	1	0	0	0	0	0	0	0	1	13481	1683	59	5		5	RGS7	1	240801464	Silent	SNP	T	11LU016_TP	12344027	240801464	8154958	53	109											
CEP170	0	.	GRCh38	chr1	243186381	243186381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcgcctgtgagccccagCgttctctgaatcactttgcg	7	10	10	14	3	2	2	1	2	1	0	3	2	2	2	3	0	4	1	3	0	1	2	rs371580565		11LU016_TP	11LU016_NB	C	C																c.1150G>T	p.Ala384Ser	p.A384S	ENST00000366542	9/20	137	90	47	104	104	0	strelka-varscan	CEP170,missense_variant,p.Ala384Ser,ENST00000366542,NM_014812.2;CEP170,missense_variant,p.Ala384Ser,ENST00000366544,NM_001042404.1;CEP170,missense_variant,p.Ala384Ser,ENST00000366543,NM_001042405.1;CEP170,missense_variant,p.Ala286Ser,ENST00000336415,;CEP170,missense_variant,p.Ala11Ser,ENST00000522895,;CEP170,non_coding_transcript_exon_variant,,ENST00000521911,;CEP170,upstream_gene_variant,,ENST00000461671,;	A	ENST00000366542	Transcript	missense_variant	1202/6828	1150/4755	384/1584	A/S	Gct/Tct	rs371580565	1		-1	CEP170	HGNC	HGNC:28920	protein_coding	YES	CCDS44339.1	ENSP00000355500	Q5SW79		UPI0000470238	NM_014812.2	tolerated(0.12)		9/20		hmmpanther:PTHR15715:SF17,hmmpanther:PTHR15715																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	2	243186381	243186381	C	A	1	0	0	0	0	1	0	0	0	2964	768	27	1		1	CEP170	1	243186381	Missense_Mutation	SNP	C	11LU016_TP	2384917	243186381	5770041	54	110											
OR1C1	0	.	GRCh38	chr1	247757853	247757853	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagagcaagagagctgcAggagaggattgagatcacag	14	5	15	7	1	2	4	2	1	0	4	2	8	2	5	0	2	3	3	0	2	1	1	novel		11LU016_TP	11LU016_NB	A	A																c.554T>C	p.Leu185Pro	p.L185P	ENST00000408896	1/1	269	219	50	235	235	0	strelka-varscan	OR1C1,missense_variant,p.Leu185Pro,ENST00000408896,NM_012353.2;	G	ENST00000408896	Transcript	missense_variant	554/945	554/945	185/314	L/P	cTg/cCg		1		-1	OR1C1	HGNC	HGNC:8182	protein_coding	YES	CCDS41481.1	ENSP00000386138	Q15619	A0A126GV94	UPI000004B1DC	NM_012353.2	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF388,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	2	247757853	247757853	A	G	1	0	0	0	0	1	0	0	0	11029	188	7	5		5	OR1C1	1	247757853	Missense_Mutation	SNP	A	11LU016_TP	4571472	247757853	1198569	55	111											
OR2AK2	0	.	GRCh38	chr1	247965740	247965740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttttatgtcttatgatCgctatgtagctatctgtcac	7	19	8	7	1	3	1	1	1	2	0	4	1	3	1	0	1	1	4	0	1	5	7	rs764277744		11LU016_TP	11LU016_NB	C	C																c.409C>A	p.Arg137Ser	p.R137S	ENST00000366480	1/1	38	30	8	18	18	0	strelka-varscan	OR2AK2,missense_variant,p.Arg137Ser,ENST00000366480,NM_001004491.1;	A	ENST00000366480	Transcript	missense_variant	508/1107	409/1008	137/335	R/S	Cgc/Agc	rs764277744,COSM3486895	1		1	OR2AK2	HGNC	HGNC:19569	protein_coding	YES	CCDS31102.1	ENSP00000355436	Q8NG84		UPI00003B2873	NM_001004491.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF299,hmmpanther:PTHR26453,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											0,1						MODERATE	1	SNV			0,1	1										PASS		.	.												A	3	1	2	247965740	247965740	C	A	1	0	0	0	0	1	0	0	0	11064	884	31	1		1	OR2AK2	1	247965740	Missense_Mutation	SNP	C	11LU016_TP	207887	247965740	990682	56	112											
ZNF672	0	.	GRCh38	chr1	248848139	248848139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatgcgtgcgccacttgcGgcaagggtttcgggcagcgc	6	7	15	13	5	0	0	0	0	0	0	1	0	0	0	1	3	4	3	1	3	1	2			11LU016_TP	11LU016_NB	G	G																c.865G>A	p.Gly289Ser	p.G289S	ENST00000306562	4/4	168	155	13	138	138	0	strelka-varscan	ZNF672,missense_variant,p.Gly289Ser,ENST00000306562,NM_024836.2;ZNF692,downstream_gene_variant,,ENST00000451251,NM_001136036.2;ZNF692,downstream_gene_variant,,ENST00000306601,NM_017865.3;ZNF692,downstream_gene_variant,,ENST00000366471,NM_001193328.1;ZNF692,downstream_gene_variant,,ENST00000476503,;ZNF672,downstream_gene_variant,,ENST00000428515,;ZNF672,downstream_gene_variant,,ENST00000423362,;ZNF672,downstream_gene_variant,,ENST00000505503,;ZNF672,downstream_gene_variant,,ENST00000502697,;ZNF672,downstream_gene_variant,,ENST00000510904,;ZNF672,downstream_gene_variant,,ENST00000515369,;ZNF692,downstream_gene_variant,,ENST00000463519,;ZNF692,downstream_gene_variant,,ENST00000533927,;ZNF692,downstream_gene_variant,,ENST00000412341,;ZNF692,downstream_gene_variant,,ENST00000470787,;ZNF692,downstream_gene_variant,,ENST00000477070,;ZNF692,downstream_gene_variant,,ENST00000474351,;ZNF692,downstream_gene_variant,,ENST00000482023,;ZNF692,downstream_gene_variant,,ENST00000462037,;	A	ENST00000306562	Transcript	missense_variant	1611/2989	865/1359	289/452	G/S	Ggc/Agc	COSM4030813	1		1	ZNF672	HGNC	HGNC:26179	protein_coding	YES	CCDS1638.1	ENSP00000421915	Q499Z4		UPI0000070D6C	NM_024836.2	tolerated(0.09)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	2	248848139	248848139	G	A	1	0	0	0	0	1	0	0	0	18653	1116	39	1		1	ZNF672	1	248848139	Missense_Mutation	SNP	G	11LU016_TP	882399	248848139	108283	57	113											
TPO	0	.	GRCh38	chr2	1493962	1493962	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggcttagctgaaaacttCctccccagggctcggacagg	9	7	13	12	1	0	1	0	1	0	0	3	3	2	3	3	5	2	3	3	5	3	2	novel		11LU016_TP	11LU016_NB	C	C																c.1929C>A	p.Phe643Leu	p.F643L	ENST00000345913	11/17	596	481	115	567	565	2	strelka-varscan-mutect	TPO,missense_variant,p.Phe572Leu,ENST00000422464,;TPO,missense_variant,p.Phe643Leu,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Phe643Leu,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Phe586Leu,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,missense_variant,p.Phe643Leu,ENST00000346956,NM_175721.3;TPO,missense_variant,p.Phe470Leu,ENST00000382198,NM_175722.3;TPO,missense_variant,p.Phe118Leu,ENST00000446278,;TPO,missense_variant,p.Phe117Leu,ENST00000469607,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;TPO,non_coding_transcript_exon_variant,,ENST00000462973,;	A	ENST00000345913	Transcript	missense_variant	2020/3145	1929/2802	643/933	F/L	ttC/ttA		1		1	TPO	HGNC	HGNC:12015	protein_coding	YES	CCDS1643.1	ENSP00000318820	P07202		UPI000013D480	NM_000547.5	tolerated(0.47)		11/17		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF60,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	1493962	1493962	C	A	1	0	0	0	0	1	0	0	0	16891	854	30	2		2	TPO	2	1493962	Missense_Mutation	SNP	C	11LU016_TP		1493962	240699567	58	114											
MYT1L	0	.	GRCh38	chr2	1923115	1923115	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atttctgactcagtcctggcCcggtaggctgcatcctcagc	6	11	10	14	1	3	1	2	1	1	0	5	1	5	1	3	3	2	3	3	3	1	2			11LU016_TP	11LU016_NB	C	C																c.654G>T	p.=	p.R218R	ENST00000399161	10/25	427	351	76	362	360	2	strelka-varscan-mutect	MYT1L,synonymous_variant,p.=,ENST00000399161,NM_001303052.1;MYT1L,synonymous_variant,p.=,ENST00000428368,NM_015025.3;MYT1L,upstream_gene_variant,,ENST00000602387,;	A	ENST00000399161	Transcript	synonymous_variant	1402/7063	654/3561	218/1186	R	cgG/cgT	COSM1014217,COSM5312159,COSM5312160	1		-1	MYT1L	HGNC	HGNC:7623	protein_coding	YES	CCDS77378.1	ENSP00000382114	Q9UL68		UPI0000140B19	NM_001303052.1			10/25		hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												A	2	1	2	1923115	1923115	C	A	1	0	0	0	0	0	0	0	1	10106	610	22	2		2	MYT1L	2	1923115	Silent	SNP	C	11LU016_TP	429153	1923115	240270414	59	115											
NTSR2	0	.	GRCh38	chr2	11661993	11661993	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggacgctgcgctggaggCtgcggatccggcgcacgtct	4	7	16	14	6	1	0	0	0	1	0	2	3	2	3	2	5	2	4	2	5	0	0	novel		11LU016_TP	11LU016_NB	C	C																c.872G>T	p.Ser291Ile	p.S291I	ENST00000306928	2/4	57	47	10	62	62	0	strelka-varscan-mutect	NTSR2,missense_variant,p.Ser291Ile,ENST00000306928,NM_012344.3;AC110754.3,downstream_gene_variant,,ENST00000399740,;	A	ENST00000306928	Transcript	missense_variant	907/1569	872/1233	291/410	S/I	aGc/aTc		1		-1	NTSR2	HGNC	HGNC:8040	protein_coding	YES	CCDS1681.1	ENSP00000303686	O95665		UPI000013EBAA	NM_012344.3	deleterious(0.03)		2/4		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF10,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	11661993	11661993	C	A	1	0	0	0	0	1	0	0	0	10777	797	28	2		2	NTSR2	2	11661993	Missense_Mutation	SNP	C	11LU016_TP	9738878	11661993	230531536	60	116											
FAM84A	0	.	GRCh38	chr2	14634154	14634154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtttggcgtgaaggcccccCcgggttgcaccccctgcccg	4	7	13	17	3	0	1	0	1	0	0	0	1	0	1	6	3	2	3	6	3	1	2	rs777422351		11LU016_TP	11LU016_NB	C	C																c.175C>A	p.Pro59Thr	p.P59T	ENST00000295092	2/2	253	205	48	193	193	0	strelka-varscan-mutect	FAM84A,missense_variant,p.Pro59Thr,ENST00000295092,NM_145175.2;FAM84A,missense_variant,p.Pro59Thr,ENST00000331243,;AC011897.2,downstream_gene_variant,,ENST00000450715,;AC011897.2,downstream_gene_variant,,ENST00000418481,;FAM84A,upstream_gene_variant,,ENST00000497769,;FAM84A,upstream_gene_variant,,ENST00000464947,;	A	ENST00000295092	Transcript	missense_variant	463/6355	175/879	59/292	P/T	Ccg/Acg	rs777422351	1		1	FAM84A	HGNC	HGNC:20743	protein_coding	YES	CCDS1684.1	ENSP00000295092	Q96KN4		UPI000013E203	NM_145175.2	tolerated(0.22)		2/2		hmmpanther:PTHR13943:SF38,hmmpanther:PTHR13943																	MODERATE	1	SNV	1			1										PASS		rs777422351	.												A	3	1	2	14634154	14634154	C	A	1	0	0	0	0	1	0	0	0	5499	623	22	2		2	FAM84A	2	14634154	Missense_Mutation	SNP	C	11LU016_TP	2972161	14634154	227559375	61	117											
APOB	0	.	GRCh38	chr2	21004383	21004383	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagatgcctttcttgtctttCtggtagcgcagatggagatc	7	14	12	8	1	3	3	0	0	3	3	4	5	3	3	1	2	2	2	1	2	1	4	novel		11LU016_TP	11LU016_NB	C	C																c.11973G>A	p.=	p.Q3991Q	ENST00000233242	28/29	331	277	54	295	295	0	strelka-varscan-mutect	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	T	ENST00000233242	Transcript	synonymous_variant	12101/14121	11973/13692	3991/4563	Q	caG/caA		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			28/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	21004383	21004383	C	T	1	0	0	0	0	0	0	0	1	907	912	32	3		3	APOB	2	21004383	Silent	SNP	C	11LU016_TP	6370229	21004383	221189146	62	118											
APOB	0	.	GRCh38	chr2	21007461	21007461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattattgtgtaaggtagaCgcatttcaggaattgttaaa	13	15	10	3	1	1	2	1	1	0	1	1	3	1	3	0	2	0	4	0	2	6	7	rs199590149		11LU016_TP	11LU016_NB	C	C																c.9407G>T	p.Arg3136Leu	p.R3136L	ENST00000233242	26/29	298	258	40	270	270	0	strelka-varscan-mutect	APOB,missense_variant,p.Arg3136Leu,ENST00000233242,NM_000384.2;	A	ENST00000233242	Transcript	missense_variant	9535/14121	9407/13692	3136/4563	R/L	cGt/cTt	rs199590149,COSM318732	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	tolerated(0.17)		26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs199590149	.												A	3	1	2	21007461	21007461	C	A	1	0	0	0	0	1	0	0	0	907	536	19	1		1	APOB	2	21007461	Missense_Mutation	SNP	C	11LU016_TP	3078	21007461	221186068	63	119											
TDRD15	0	.	GRCh38	chr2	21138410	21138410	+	Frame_Shift_Del	DEL	C	C	-																															gaattcttcagcagctcttgCccccaaatcaagtaaaaatt																								novel		11LU016_TP	11LU016_NB	C	C																c.947delC	p.Pro316GlnfsTer4	p.P316Qfs*4	ENST00000405799	4/4	70	57	13	90	90	0	sindel-varindel-pindel	TDRD15,frameshift_variant,p.Pro316GlnfsTer4,ENST00000405799,;TDRD15,frameshift_variant,p.Pro316GlnfsTer4,ENST00000622654,;	-	ENST00000405799	Transcript	frameshift_variant	1273/6135	943/5805	315/1934	P/X	Ccc/cc		1		1	TDRD15	HGNC	HGNC:45037	protein_coding	YES	CCDS77385.1	ENSP00000384376	B5MCY1		UPI000173A3F5				4/4		Gene3D:2.30.30.140,Pfam_domain:PF00567,PROSITE_profiles:PS50304,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7,SMART_domains:SM00333,Superfamily_domains:SSF63748																	HIGH	1	deletion	2	4		1										PASS		.	.												-	7	5	2	21138410	21138410	C	-	1	0	1	0	1	0	0	0	0	16141	739	26	0		0	TDRD15	2	21138410	Frame_Shift_Del	DEL	C	11LU016_TP	130949	21138410	221055119	64	120											
ABHD1	0	.	GRCh38	chr2	27130376	27130376	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatccggatccctgtgctCtatctcagtgcagcagatga	8	10	10	13	1	2	2	1	1	2	1	5	3	4	3	3	1	3	3	3	1	1	1	novel		11LU016_TP	11LU016_NB	C	C																c.966C>T	p.=	p.L322L	ENST00000316470	8/9	190	176	14	156	156	0	strelka-mutect	ABHD1,synonymous_variant,p.=,ENST00000316470,NM_032604.3;PREB,downstream_gene_variant,,ENST00000260643,NM_013388.4;PREB,downstream_gene_variant,,ENST00000406567,;PREB,downstream_gene_variant,,ENST00000456259,;ABHD1,downstream_gene_variant,,ENST00000621324,;ABHD1,downstream_gene_variant,,ENST00000416071,;PREB,downstream_gene_variant,,ENST00000430533,;PREB,downstream_gene_variant,,ENST00000416802,;ABHD1,3_prime_UTR_variant,,ENST00000448950,;ABHD1,3_prime_UTR_variant,,ENST00000420647,;ABHD1,non_coding_transcript_exon_variant,,ENST00000489120,;ABHD1,non_coding_transcript_exon_variant,,ENST00000496739,;ABHD1,downstream_gene_variant,,ENST00000622011,;PREB,downstream_gene_variant,,ENST00000468045,;PREB,downstream_gene_variant,,ENST00000444452,;PREB,downstream_gene_variant,,ENST00000474802,;PREB,downstream_gene_variant,,ENST00000441451,;	T	ENST00000316470	Transcript	synonymous_variant	1080/1400	966/1218	322/405	L	ctC/ctT		1		1	ABHD1	HGNC	HGNC:17553	protein_coding	YES	CCDS1736.1	ENSP00000326491	Q96SE0	A0A140VJD1	UPI000006D45E	NM_032604.3			8/9		hmmpanther:PTHR10794,hmmpanther:PTHR10794:SF60,PROSITE_patterns:PS01133,PIRSF_domain:PIRSF005211,Gene3D:3.40.50.1820,Pfam_domain:PF00561,Superfamily_domains:SSF53474																	LOW	1	SNV	1			1										PASS		rs765048369	.												T	2	4	2	27130376	27130376	C	T	1	0	0	0	0	0	0	0	1	77	900	32	3		3	ABHD1	2	27130376	Silent	SNP	C	11LU016_TP	5991966	27130376	215063153	65	121											
PRR30	0	.	GRCh38	chr2	27137093	27137093	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctccgtggctctggaactAgactgatgacttttggagaa	9	11	12	9	1	1	4	0	2	1	2	2	6	2	5	2	3	1	1	2	3	3	3	rs751384314		11LU016_TP	11LU016_NB	A	A																c.1237T>A	p.Ter413LysextTer31	p.*413Kext*31	ENST00000335524	3/3	96	73	23	96	96	0	strelka-varscan-mutect	PRR30,stop_lost,p.Ter413LysextTer31,ENST00000335524,NM_178553.3;PREB,upstream_gene_variant,,ENST00000260643,NM_013388.4;PREB,upstream_gene_variant,,ENST00000406567,;PREB,upstream_gene_variant,,ENST00000456259,;PRR30,downstream_gene_variant,,ENST00000432962,;PREB,upstream_gene_variant,,ENST00000430533,;PREB,upstream_gene_variant,,ENST00000416802,;PREB,upstream_gene_variant,,ENST00000468045,;PREB,upstream_gene_variant,,ENST00000444452,;PREB,upstream_gene_variant,,ENST00000474802,;PREB,upstream_gene_variant,,ENST00000441451,;	T	ENST00000335524	Transcript	stop_lost	1763/2008	1237/1239	413/412	*/K	Tag/Aag	rs751384314	1		-1	PRR30	HGNC	HGNC:28677	protein_coding	YES	CCDS1739.1	ENSP00000335017	Q53SZ7		UPI00001995FD	NM_178553.3			3/3																			HIGH	1	SNV	1			1										PASS		rs751384314	.												T	4	4	2	27137093	27137093	A	T	1	0	0	0	0	0	0	0	0	12737	433	15	4		4	PRR30	2	27137093	Nonstop_Mutation	SNP	A	11LU016_TP	6717	27137093	215056436	66	122											
C2orf71	0	.	GRCh38	chr2	29071274	29071274	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacccagtgtgtcctcgtGggagaggcctttctgcccac	5	9	13	14	1	1	1	0	0	1	1	3	2	2	1	4	3	1	1	4	3	0	1	rs754342177		11LU016_TP	11LU016_NB	G	G																c.2988C>A	p.=	p.P996P	ENST00000331664	1/2	147	119	28	126	126	0	strelka-varscan-mutect	C2orf71,synonymous_variant,p.=,ENST00000331664,NM_001029883.2;	T	ENST00000331664	Transcript	synonymous_variant	2988/7044	2988/3867	996/1288	P	ccC/ccA	rs754342177	1		-1	C2orf71	HGNC	HGNC:34383	protein_coding	YES	CCDS42669.1	ENSP00000332809	A6NGG8		UPI0000251DD8	NM_001029883.2			1/2		Pfam_domain:PF15449,hmmpanther:PTHR22017																	LOW	1	SNV	2			1										PASS		rs754342177	.												T	2	4	2	29071274	29071274	G	T	1	0	0	0	0	0	0	0	1	2045	1335	47	2		2	C2orf71	2	29071274	Silent	SNP	G	11LU016_TP	1934181	29071274	213122255	67	123											
STON1	0	.	GRCh38	chr2	48581682	48581682	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccacactgtgaagattgAacatgtgtcttacacagaaa	16	10	7	8	0	1	4	0	2	1	2	2	4	2	4	1	0	2	0	1	0	5	2	novel		11LU016_TP	11LU016_NB	A	A																c.1049A>T	p.Glu350Val	p.E350V	ENST00000406226	3/5	122	112	10	105	105	0	strelka-varscan	STON1,missense_variant,p.Glu350Val,ENST00000406226,NM_001198595.1;STON1,missense_variant,p.Glu350Val,ENST00000404752,NM_006873.3;STON1-GTF2A1L,missense_variant,p.Glu350Val,ENST00000394754,NM_172311.2;STON1-GTF2A1L,missense_variant,p.Glu350Val,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Glu350Val,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,missense_variant,p.Glu350Val,ENST00000394751,NM_001198594.1;STON1,upstream_gene_variant,,ENST00000444932,;	T	ENST00000406226	Transcript	missense_variant	1244/5614	1049/2208	350/735	E/V	gAa/gTa		1		1	STON1	HGNC	HGNC:17003	protein_coding	YES	CCDS1841.1	ENSP00000384615	Q9Y6Q2		UPI000006E627	NM_001198595.1	deleterious(0)		3/5		PROSITE_profiles:PS51070																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	2	48581682	48581682	A	T	1	0	0	0	0	1	0	0	0	15695	246	9	4		4	STON1	2	48581682	Missense_Mutation	SNP	A	11LU016_TP	19510408	48581682	193611847	68	124											
GTF2A1L	0	.	GRCh38	chr2	48647016	48647016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaccaagaaatatagaggaaCccagcaacatacctgtatca	19	6	6	10	0	1	2	1	0	0	2	1	3	1	3	3	1	5	2	3	1	9	4	novel		11LU016_TP	11LU016_NB	C	C																c.3064C>A	p.Pro1022Thr	p.P1022T	ENST00000394754	8/11	69	55	14	55	55	0	strelka-varscan	STON1-GTF2A1L,missense_variant,p.Pro1022Thr,ENST00000394754,NM_172311.2;STON1-GTF2A1L,missense_variant,p.Pro1022Thr,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Pro1022Thr,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,missense_variant,p.Pro975Thr,ENST00000394751,NM_001198594.1;GTF2A1L,missense_variant,p.Pro318Thr,ENST00000403751,NM_006872.4;GTF2A1L,missense_variant,p.Pro284Thr,ENST00000430487,NM_001193487.2;GTF2A1L,missense_variant,p.Pro327Thr,ENST00000437125,;GTF2A1L,downstream_gene_variant,,ENST00000448460,;GTF2A1L,downstream_gene_variant,,ENST00000468326,;RP11-310N16.1,intron_variant,,ENST00000602369,;GTF2A1L,downstream_gene_variant,,ENST00000423675,;	A	ENST00000394754	Transcript	missense_variant	3178/3824	3064/3549	1022/1182	P/T	Ccc/Acc		1		1	STON1-GTF2A1L	HGNC	HGNC:30651	protein_coding	YES	CCDS1840.1	ENSP00000378236		Q53S48	UPI000013C976	NM_172311.2	tolerated(0.22)		8/11		hmmpanther:PTHR12694,hmmpanther:PTHR12694:SF9,Pfam_domain:PF03153,SMART_domains:SM01371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	48647016	48647016	C	A	1	0	0	0	0	1	0	0	0	6735	507	18	2		2	GTF2A1L	2	48647016	Missense_Mutation	SNP	C	11LU016_TP	65334	48647016	193546513	69	125											
NRXN1	0	.	GRCh38	chr2	49922162	49922162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcagcggctactatccCaacgaccatacccgtggtgc	8	6	12	15	4	0	0	0	0	0	0	1	1	1	0	3	4	5	2	3	4	4	3	novel		11LU016_TP	11LU016_NB	C	C																c.4426G>T	p.Gly1476Trp	p.G1476W	ENST00000404971	24/24	197	169	28	149	149	0	strelka-varscan	NRXN1,missense_variant,p.Gly1406Trp,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Gly1425Trp,ENST00000625672,;NRXN1,missense_variant,p.Gly1476Trp,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Gly1436Trp,ENST00000401669,;NRXN1,missense_variant,p.Gly1424Trp,ENST00000405472,;NRXN1,missense_variant,p.Gly1428Trp,ENST00000630543,;NRXN1,missense_variant,p.Gly72Trp,ENST00000636345,;NRXN1,missense_variant,p.Gly371Trp,ENST00000342183,NM_138735.2;NRXN1,missense_variant,p.Gly401Trp,ENST00000401710,;NRXN1,missense_variant,p.Gly398Trp,ENST00000628364,;NRXN1,missense_variant,p.Gly68Trp,ENST00000412315,;NRXN1,missense_variant,p.Gly127Trp,ENST00000611589,;NRXN1,missense_variant,p.Gly71Trp,ENST00000378262,;NRXN1,missense_variant,p.Gly4Trp,ENST00000630656,;NRXN1,3_prime_UTR_variant,,ENST00000635519,;NRXN1,non_coding_transcript_exon_variant,,ENST00000634431,;NRXN1,non_coding_transcript_exon_variant,,ENST00000634764,;NRXN1,non_coding_transcript_exon_variant,,ENST00000635164,;NRXN1,non_coding_transcript_exon_variant,,ENST00000634412,;NRXN1,non_coding_transcript_exon_variant,,ENST00000635264,;NRXN1,non_coding_transcript_exon_variant,,ENST00000484192,;NRXN1,non_coding_transcript_exon_variant,,ENST00000629717,;NRXN1,3_prime_UTR_variant,,ENST00000637906,;	A	ENST00000404971	Transcript	missense_variant	5766/7578	4426/4644	1476/1547	G/W	Ggg/Tgg		1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	deleterious(0)		24/24		Pfam_domain:PF01034,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	49922162	49922162	C	A	1	0	0	0	0	1	0	0	0	10724	594	21	2		2	NRXN1	2	49922162	Missense_Mutation	SNP	C	11LU016_TP	1275146	49922162	192271367	70	126											
GPR75	0	.	GRCh38	chr2	53853511	53853511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatttgtttctgttgacttCgaggttcccttttcccatgg	4	18	10	9	1	1	1	0	1	1	0	4	3	3	2	2	3	0	3	2	3	0	7	rs778576313		11LU016_TP	11LU016_NB	C	C																c.1246G>A	p.Glu416Lys	p.E416K	ENST00000394705	2/2	196	181	15	171	171	0	strelka-varscan	GPR75,missense_variant,p.Glu416Lys,ENST00000394705,NM_006794.3;GPR75-ASB3,intron_variant,,ENST00000406625,NM_001164165.1;MIR3682,upstream_gene_variant,,ENST00000581338,;GPR75-ASB3,intron_variant,,ENST00000498475,;GPR75-ASB3,intron_variant,,ENST00000459916,;	T	ENST00000394705	Transcript	missense_variant	1517/2115	1246/1623	416/540	E/K	Gaa/Aaa	rs778576313,COSM3426528	1		-1	GPR75	HGNC	HGNC:4526	protein_coding	YES	CCDS1849.1	ENSP00000378195	O95800		UPI0000050454	NM_006794.3	deleterious(0.03)		2/2		hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF226											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	2	53853511	53853511	C	T	1	0	0	0	0	1	0	0	0	6591	893	31	1		1	GPR75	2	53853511	Missense_Mutation	SNP	C	11LU016_TP	3931349	53853511	188340018	71	127											
EXOC6B	0	.	GRCh38	chr2	72515119	72515119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaattctcaaatgtttccCgggcaccctgtaaataaaga	14	11	7	9	1	1	1	1	0	1	1	3	1	2	1	2	1	0	4	2	1	6	5	rs749620876		11LU016_TP	11LU016_NB	C	C																c.923G>A	p.Arg308Gln	p.R308Q	ENST00000272427	9/22	233	196	37	240	240	0	strelka-varscan	EXOC6B,missense_variant,p.Arg308Gln,ENST00000272427,NM_001321729.1,NM_001321734.1,NM_015189.1;EXOC6B,missense_variant,p.Arg308Gln,ENST00000410104,;EXOC6B,missense_variant,p.Arg308Gln,ENST00000634650,;EXOC6B,non_coding_transcript_exon_variant,,ENST00000485398,;EXOC6B,3_prime_UTR_variant,,ENST00000410112,;	T	ENST00000272427	Transcript	missense_variant	1054/5918	923/2436	308/811	R/Q	cGg/cAg	rs749620876,COSM1022719	1		-1	EXOC6B	HGNC	HGNC:17085	protein_coding	YES	CCDS46333.1	ENSP00000272427	Q9Y2D4		UPI000046995C	NM_001321729.1,NM_001321734.1,NM_015189.1	tolerated(0.11)		9/22		hmmpanther:PTHR12702:SF3,hmmpanther:PTHR12702,PIRSF_domain:PIRSF025007											0,1						MODERATE	1	SNV	2		0,1	1										PASS		.	.												T	3	4	2	72515119	72515119	C	T	1	0	0	0	0	1	0	0	0	5177	652	23	1		1	EXOC6B	2	72515119	Missense_Mutation	SNP	C	11LU016_TP	18661608	72515119	169678410	72	128											
ALMS1	0	.	GRCh38	chr2	73490887	73490887	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaagcaaagcgccaggtgtAgatgaccaaatgaataaaca	19	5	9	8	1	0	3	0	2	0	1	0	3	0	3	2	1	3	2	2	1	7	2	rs373374154		11LU016_TP	11LU016_NB	A	A																c.8928A>T	p.=	p.V2976V	ENST00000613296	10/23	307	250	57	234	234	0	strelka-varscan	ALMS1,synonymous_variant,p.=,ENST00000613296,NM_015120.4;ALMS1,synonymous_variant,p.=,ENST00000484298,;ALMS1,synonymous_variant,p.=,ENST00000614410,;ALMS1,non_coding_transcript_exon_variant,,ENST00000620466,;ALMS1,intron_variant,,ENST00000423048,;	T	ENST00000613296	Transcript	synonymous_variant	9039/12925	8928/12507	2976/4168	V	gtA/gtT	rs373374154	1		1	ALMS1	HGNC	HGNC:428	protein_coding	YES	CCDS42697.1	ENSP00000482968		A0A087WZY3	UPI00046209B2	NM_015120.4			10/23		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	73490887	73490887	A	T	1	0	0	0	0	0	0	0	1	635	407	15	4		4	ALMS1	2	73490887	Silent	SNP	A	11LU016_TP	975768	73490887	168702642	73	129											
ANAPC1	0	.	GRCh38	chr2	111803769	111803769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtttgaaagcgcctatgtCctccaaccatgtactgatag	10	12	8	11	1	0	2	0	2	0	0	2	2	2	2	4	0	3	2	4	0	5	4	novel		11LU016_TP	11LU016_NB	C	C																c.3995G>T	p.Gly1332Val	p.G1332V	ENST00000341068	31/48	238	201	37	220	220	0	strelka-varscan	ANAPC1,missense_variant,p.Gly1332Val,ENST00000341068,NM_022662.3;ANAPC1,missense_variant,p.Gly867Val,ENST00000427997,;ANAPC1,non_coding_transcript_exon_variant,,ENST00000485325,;	A	ENST00000341068	Transcript	missense_variant	4768/8262	3995/5835	1332/1944	G/V	gGa/gTa		1		-1	ANAPC1	HGNC	HGNC:19988	protein_coding	YES	CCDS2093.1	ENSP00000339109	Q9H1A4		UPI000006EC6E	NM_022662.3	deleterious(0)		31/48		hmmpanther:PTHR12827																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	111803769	111803769	C	A	1	0	0	0	0	1	0	0	0	695	855	30	2		2	ANAPC1	2	111803769	Missense_Mutation	SNP	C	11LU016_TP	38312882	111803769	130389760	74	130											
DDX18	0	.	GRCh38	chr2	117830617	117830617	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaagcagaaaaagcgaGgaggtggtggtggatttggc	13	6	18	4	1	0	1	0	0	0	1	0	4	0	3	0	7	2	2	0	7	4	1	novel		11LU016_TP	11LU016_NB	G	G																c.1906G>T	p.Gly636Ter	p.G636*	ENST00000263239	14/14	220	208	12	222	222	0	strelka-varscan	DDX18,stop_gained,p.Gly636Ter,ENST00000263239,NM_006773.3;DDX18,downstream_gene_variant,,ENST00000415038,;AC009404.2,upstream_gene_variant,,ENST00000420330,;DDX18,non_coding_transcript_exon_variant,,ENST00000476149,;DDX18,downstream_gene_variant,,ENST00000461443,;	T	ENST00000263239	Transcript	stop_gained	2034/3796	1906/2013	636/670	G/*	Gga/Tga		1		1	DDX18	HGNC	HGNC:2741	protein_coding	YES	CCDS2120.1	ENSP00000263239	Q9NVP1	A0A024RAH8	UPI000012907E	NM_006773.3			14/14		Low_complexity_(Seg):seg,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF301																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	2	117830617	117830617	G	T	1	0	0	0	0	0	1	0	0	4148	1001	35	2		2	DDX18	2	117830617	Nonsense_Mutation	SNP	G	11LU016_TP	6026848	117830617	124362912	75	131											
CNTNAP5	0	.	GRCh38	chr2	124763717	124763717	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagaccacttgcctgtCactcagatagttatcactga	12	12	6	11	0	4	3	4	1	0	2	4	3	4	3	2	0	1	1	2	0	3	4	novel		11LU016_TP	11LU016_NB	C	C																c.2277C>A	p.=	p.V759V	ENST00000431078	15/24	195	184	11	174	173	1	strelka-varscan	CNTNAP5,synonymous_variant,p.=,ENST00000431078,NM_130773.3;	A	ENST00000431078	Transcript	synonymous_variant	2641/5284	2277/3921	759/1306	V	gtC/gtA		1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3			15/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF665																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	124763717	124763717	C	A	1	0	0	0	0	0	0	0	1	3432	813	29	2		2	CNTNAP5	2	124763717	Silent	SNP	C	11LU016_TP	6933100	124763717	117429812	76	132											
POTEJ	0	.	GRCh38	chr2	130657110	130657110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccgcgagaagatgaccCagatcatgtttgagaccttc	12	8	9	12	2	1	5	1	2	0	4	2	7	1	5	4	0	1	1	4	0	2	2	novel		11LU016_TP	11LU016_NB	C	C																c.2350C>A	p.Gln784Lys	p.Q784K	ENST00000409602	15/15	188	160	28	224	224	0	strelka-varscan	POTEJ,missense_variant,p.Gln784Lys,ENST00000409602,NM_001277083.1;	A	ENST00000409602	Transcript	missense_variant	2402/3383	2350/3117	784/1038	Q/K	Cag/Aag		1		1	POTEJ	HGNC	HGNC:37094	protein_coding	YES	CCDS59432.1	ENSP00000387176	P0CG39		UPI0000DD7A4B	NM_001277083.1	deleterious_low_confidence(0.02)		15/15		Gene3D:3.30.420.40,Pfam_domain:PF00022,Prints_domain:PR00190,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	2	130657110	130657110	C	A	1	0	0	0	0	1	0	0	0	12383	595	21	2		2	POTEJ	2	130657110	Missense_Mutation	SNP	C	11LU016_TP	5893393	130657110	111536419	77	133											
R3HDM1	0	.	GRCh38	chr2	135715689	135715689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctagaccttttgtccccgGgcaaggtaagtgcacatgaa	10	11	10	10	1	1	2	0	1	1	1	2	2	2	2	3	2	1	3	3	2	4	5	rs754207538		11LU016_TP	11LU016_NB	G	G																c.2774G>T	p.Gly925Val	p.G925V	ENST00000409606	23/26	81	75	6	85	85	0	strelka-varscan	R3HDM1,missense_variant,p.Gly924Val,ENST00000264160,NM_015361.3;R3HDM1,missense_variant,p.Gly869Val,ENST00000410054,NM_001282800.1;R3HDM1,missense_variant,p.Gly796Val,ENST00000628915,;R3HDM1,missense_variant,p.Gly796Val,ENST00000409478,NM_001282799.1;R3HDM1,missense_variant,p.Gly925Val,ENST00000409606,NM_001282798.1;R3HDM1,missense_variant,p.Gly648Val,ENST00000429703,;R3HDM1,intron_variant,,ENST00000445855,;	T	ENST00000409606	Transcript	missense_variant	3093/3673	2774/3303	925/1100	G/V	gGg/gTg	rs754207538	1		1	R3HDM1	HGNC	HGNC:9757	protein_coding	YES	CCDS63025.1	ENSP00000387010	Q15032		UPI0001881805	NM_001282798.1	deleterious(0)		23/26		hmmpanther:PTHR15672,hmmpanther:PTHR15672:SF12																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	2	135715689	135715689	G	T	1	0	0	0	0	1	0	0	0	13044	1246	43	2		2	R3HDM1	2	135715689	Missense_Mutation	SNP	G	11LU016_TP	5058579	135715689	106477840	78	134											
LCT	0	.	GRCh38	chr2	135804848	135804848	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttcattgatgtacctggtGgttccatcagggaggatgcg	7	12	14	8	1	2	1	2	1	0	0	3	3	3	3	2	4	2	3	2	4	1	4	novel		11LU016_TP	11LU016_NB	G	G																c.4383C>A	p.=	p.T1461T	ENST00000264162	10/17	231	188	43	180	180	0	strelka-varscan	LCT,synonymous_variant,p.=,ENST00000264162,NM_002299.2;LCT,synonymous_variant,p.=,ENST00000452974,;	T	ENST00000264162	Transcript	synonymous_variant	4394/6279	4383/5784	1461/1927	T	acC/acA		1		-1	LCT	HGNC	HGNC:6530	protein_coding	YES	CCDS2178.1	ENSP00000264162	P09848		UPI000013D4D2	NM_002299.2			10/17		Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	135804848	135804848	G	T	1	0	0	0	0	0	0	0	1	8599	1335	47	2		2	LCT	2	135804848	Silent	SNP	G	11LU016_TP	89159	135804848	106388681	79	135											
LCT	0	.	GRCh38	chr2	135808829	135808829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcagttcactcctgttcCccactttccacttcatggtg	5	14	7	15	0	2	0	2	0	0	0	5	0	5	0	4	1	1	4	4	1	0	4	novel		11LU016_TP	11LU016_NB	C	C																c.3518G>T	p.Gly1173Val	p.G1173V	ENST00000264162	8/17	79	60	19	82	82	0	strelka-varscan	LCT,missense_variant,p.Gly1173Val,ENST00000264162,NM_002299.2;Y_RNA,downstream_gene_variant,,ENST00000363794,;LCT,missense_variant,p.Gly605Val,ENST00000452974,;	A	ENST00000264162	Transcript	missense_variant	3529/6279	3518/5784	1173/1927	G/V	gGg/gTg		1		-1	LCT	HGNC	HGNC:6530	protein_coding	YES	CCDS2178.1	ENSP00000264162	P09848		UPI000013D4D2	NM_002299.2	deleterious(0.02)		8/17		Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	135808829	135808829	C	A	1	0	0	0	0	1	0	0	0	8599	623	22	2		2	LCT	2	135808829	Missense_Mutation	SNP	C	11LU016_TP	3981	135808829	106384700	80	136											
LCT	0	.	GRCh38	chr2	135817679	135817679	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggggaagatccgggaccAggagatggagaacttgtaca	13	6	15	7	1	0	3	0	0	0	3	1	7	1	5	2	5	2	1	2	5	3	2	novel		11LU016_TP	11LU016_NB	A	A																c.1369T>A	p.Trp457Arg	p.W457R	ENST00000264162	6/17	327	266	61	288	287	1	strelka-varscan	LCT,missense_variant,p.Trp457Arg,ENST00000264162,NM_002299.2;AC011893.3,upstream_gene_variant,,ENST00000437007,;LCT,upstream_gene_variant,,ENST00000452974,;	T	ENST00000264162	Transcript	missense_variant	1380/6279	1369/5784	457/1927	W/R	Tgg/Agg		1		-1	LCT	HGNC	HGNC:6530	protein_coding	YES	CCDS2178.1	ENSP00000264162	P09848		UPI000013D4D2	NM_002299.2	deleterious(0)		6/17		Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	135817679	135817679	A	T	1	0	0	0	0	1	0	0	0	8599	188	7	4		4	LCT	2	135817679	Missense_Mutation	SNP	A	11LU016_TP	8850	135817679	106375850	81	137											
GTDC1	0	.	GRCh38	chr2	143957328	143957328	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaatgcctttttggcctCtgaaaaaatatcttttaaaa	13	15	4	9	0	2	1	0	1	2	0	3	1	3	1	3	1	1	0	3	1	7	5			11LU016_TP	11LU016_NB	C	C																c.997G>T	p.Glu333Ter	p.E333*	ENST00000392869	8/11	77	62	15	61	60	1	strelka-varscan	GTDC1,stop_gained,p.Glu333Ter,ENST00000392869,;GTDC1,stop_gained,p.Glu333Ter,ENST00000409214,NM_001006636.3;GTDC1,stop_gained,p.Glu333Ter,ENST00000542155,NM_001164629.3;GTDC1,stop_gained,p.Glu333Ter,ENST00000344850,;GTDC1,stop_gained,p.Glu301Ter,ENST00000618778,NM_001284238.1;GTDC1,stop_gained,p.Glu215Ter,ENST00000409298,;GTDC1,stop_gained,p.Glu204Ter,ENST00000463875,NM_001284234.1;GTDC1,intron_variant,,ENST00000392867,NM_024659.4;GTDC1,intron_variant,,ENST00000241391,NM_001284233.1;AC016910.1,intron_variant,,ENST00000422799,;GTDC1,3_prime_UTR_variant,,ENST00000415569,;GTDC1,intron_variant,,ENST00000392871,;	A	ENST00000392869	Transcript	stop_gained	1150/10514	997/1377	333/458	E/*	Gag/Tag	COSM441193	1		-1	GTDC1	HGNC	HGNC:20887	protein_coding	YES	CCDS33300.1	ENSP00000376608	Q4AE62		UPI000022BC3B				8/11		hmmpanther:PTHR13615,hmmpanther:PTHR13615:SF3,Pfam_domain:PF00534,Gene3D:3.40.50.2000,Superfamily_domains:SSF53756											1						HIGH		SNV	5		1	1										PASS		.	.												A	4	1	2	143957328	143957328	C	A	1	0	0	0	0	0	1	0	0	6733	922	32	2		2	GTDC1	2	143957328	Nonsense_Mutation	SNP	C	11LU016_TP	8139649	143957328	98236201	82	138											
NEB	0	.	GRCh38	chr2	151646138	151646138	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaacttacatcacttgTgttgattaagtttgctttag	11	18	7	5	0	1	2	1	2	0	0	1	2	1	2	0	0	3	3	0	0	5	8	novel		11LU016_TP	11LU016_NB	T	T																c.7528A>C	p.Thr2510Pro	p.T2510P	ENST00000618972	55/183	178	155	23	108	108	0	strelka-varscan	NEB,missense_variant,p.Thr2510Pro,ENST00000618972,NM_001271208.1;NEB,missense_variant,p.Thr2510Pro,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Thr2510Pro,ENST00000427231,NM_001164507.1;NEB,missense_variant,p.Thr2510Pro,ENST00000603639,;NEB,missense_variant,p.Thr2510Pro,ENST00000604864,;NEB,missense_variant,p.Thr2510Pro,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Thr2510Pro,ENST00000172853,;	G	ENST00000618972	Transcript	missense_variant	7731/26307	7528/25683	2510/8560	T/P	Aca/Cca		1		-1	NEB	HGNC	HGNC:7720	protein_coding	YES	CCDS74588.1	ENSP00000484342		A0A087X1N7	UPI0004E4CCB0	NM_001271208.1	tolerated(0.21)		55/183		PROSITE_profiles:PS51216,Pfam_domain:PF00880,SMART_domains:SM00227																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	2	151646138	151646138	T	G	1	0	0	0	0	1	0	0	0	10326	1696	59	5		5	NEB	2	151646138	Missense_Mutation	SNP	T	11LU016_TP	7688810	151646138	90547391	83	139											
KCNH7	0	.	GRCh38	chr2	162400257	162400257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataagaaataaagtgcaGtgaggacatccccacagtga	16	7	11	7	0	0	3	0	2	0	1	1	5	1	5	2	2	1	1	2	2	4	2	novel		11LU016_TP	11LU016_NB	G	G																c.2339C>G	p.Thr780Ser	p.T780S	ENST00000332142	10/16	317	255	62	290	290	0	strelka-varscan	KCNH7,missense_variant,p.Thr780Ser,ENST00000332142,NM_033272.3;KCNH7,missense_variant,p.Thr680Ser,ENST00000618399,;	C	ENST00000332142	Transcript	missense_variant	2439/4113	2339/3591	780/1196	T/S	aCt/aGt		1		-1	KCNH7	HGNC	HGNC:18863	protein_coding	YES	CCDS2219.1	ENSP00000331727	Q9NS40		UPI0000167D11	NM_033272.3	tolerated(0.27)		10/16		PROSITE_profiles:PS50042,hmmpanther:PTHR10217:SF466,hmmpanther:PTHR10217,Pfam_domain:PF00027,Gene3D:2.60.120.10,SMART_domains:SM00100,Superfamily_domains:SSF51206																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	2	162400257	162400257	G	C	1	0	0	0	0	1	0	0	0	7953	1029	36	4		4	KCNH7	2	162400257	Missense_Mutation	SNP	G	11LU016_TP	10754119	162400257	79793272	84	140											
KCNH7	0	.	GRCh38	chr2	162518043	162518043	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgcttcatggctactgaAtcatcactgtgtttagatga	12	14	8	7	0	3	3	3	2	0	1	3	3	3	3	0	1	2	3	0	1	4	4	novel		11LU016_TP	11LU016_NB	A	A																c.579T>A	p.Asp193Glu	p.D193E	ENST00000332142	4/16	334	314	20	264	264	0	strelka-varscan	KCNH7,missense_variant,p.Asp193Glu,ENST00000332142,NM_033272.3;KCNH7,missense_variant,p.Asp93Glu,ENST00000618399,;KCNH7,missense_variant,p.Asp193Glu,ENST00000328032,NM_173162.2;KCNH7,missense_variant,p.Asp91Glu,ENST00000621889,;KCNH7,non_coding_transcript_exon_variant,,ENST00000477019,;	T	ENST00000332142	Transcript	missense_variant	679/4113	579/3591	193/1196	D/E	gaT/gaA		1		-1	KCNH7	HGNC	HGNC:18863	protein_coding	YES	CCDS2219.1	ENSP00000331727	Q9NS40		UPI0000167D11	NM_033272.3	tolerated(1)		4/16																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	162518043	162518043	A	T	1	0	0	0	0	1	0	0	0	7953	98	4	4		4	KCNH7	2	162518043	Missense_Mutation	SNP	A	11LU016_TP	117786	162518043	79675486	85	141											
GRB14	0	.	GRCh38	chr2	164522118	164522118	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttgaactcagaaacatCtgaaagaaaatttatatatt	17	13	6	5	0	2	4	1	2	1	2	2	4	2	4	0	0	3	1	0	0	8	6	novel		11LU016_TP	11LU016_NB	C	C																c.679-1G>T		p.X227_splice	ENST00000263915		60	45	15	55	55	0	strelka-varscan	GRB14,splice_acceptor_variant,,ENST00000263915,NM_004490.2;GRB14,splice_acceptor_variant,,ENST00000446413,;GRB14,downstream_gene_variant,,ENST00000424693,;GRB14,splice_acceptor_variant,,ENST00000488342,;GRB14,splice_acceptor_variant,,ENST00000469573,;	A	ENST00000263915	Transcript	splice_acceptor_variant	-/2382	679/1623	227/540				1		-1	GRB14	HGNC	HGNC:4565	protein_coding	YES	CCDS2222.1	ENSP00000263915	Q14449		UPI000013D489	NM_004490.2				5/13																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	2	164522118	164522118	C	A	1	0	0	0	0	0	0	1	0	6636	927	32	2		2	GRB14	2	164522118	Splice_Site	SNP	C	11LU016_TP	2004075	164522118	77671411	86	142											
XIRP2	0	.	GRCh38	chr2	167245295	167245295	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccaagaaaacaattacTgaagaagtaatacagggtga	20	6	9	6	0	0	4	0	2	0	2	0	4	0	4	1	1	4	2	1	1	9	3	rs373942557		11LU016_TP	11LU016_NB	T	T																c.3903T>A	p.=	p.T1301T	ENST00000409195	9/11	138	128	10	130	130	0	strelka-varscan	XIRP2,synonymous_variant,p.=,ENST00000409195,NM_152381.5;XIRP2,synonymous_variant,p.=,ENST00000409273,NM_001199144.1;XIRP2,synonymous_variant,p.=,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	A	ENST00000409195	Transcript	synonymous_variant	3992/12675	3903/10650	1301/3549	T	acT/acA	rs373942557	1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5			9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	2	167245295	167245295	T	A	1	0	0	0	0	0	0	0	1	17989	1567	55	4		4	XIRP2	2	167245295	Silent	SNP	T	11LU016_TP	2723177	167245295	74948234	87	143											
TTN	0	.	GRCh38	chr2	178558069	178558069	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggtcaggttctcagcagtAatttcggtattaaatctcat	11	15	8	7	1	3	0	3	0	2	0	6	0	3	0	0	3	1	4	0	3	4	5			11LU016_TP	11LU016_NB	A	A																c.87285T>G	p.Ile29095Met	p.I29095M	ENST00000589042	328/363	279	220	59	248	248	0	strelka-varscan	TTN,missense_variant,p.Ile29095Met,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Ile27454Met,ENST00000591111,;TTN,missense_variant,p.Ile27454Met,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Ile26527Met,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Ile20030Met,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Ile20222Met,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Ile20155Met,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.3,non_coding_transcript_exon_variant,,ENST00000624360,;	C	ENST00000589042	Transcript	missense_variant	87510/109224	87285/107976	29095/35991	I/M	atT/atG	COSM3798266,COSM3798267,COSM3798268,COSM3798269	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			328/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1,1,1						MODERATE		SNV	5		1,1,1,1	1										PASS		.	.												C	3	2	2	178558069	178558069	A	C	1	0	0	0	0	1	0	0	0	17245	358	13	5		5	TTN	2	178558069	Missense_Mutation	SNP	A	11LU016_TP	11312774	178558069	63635460	88	144											
DNAJC10	0	.	GRCh38	chr2	182741286	182741286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgttattttttcattttgGaaaaaatgaaaattcaaatg	15	17	6	3	0	2	1	2	1	0	0	2	2	2	2	0	1	0	2	0	1	7	7	novel		11LU016_TP	11LU016_NB	G	G																c.1121G>A	p.Gly374Glu	p.G374E	ENST00000264065	13/24	127	120	7	156	156	0	strelka-varscan	DNAJC10,missense_variant,p.Gly374Glu,ENST00000264065,NM_018981.2;DNAJC10,missense_variant,p.Gly328Glu,ENST00000616986,NM_001271581.1;DNAJC10,intron_variant,,ENST00000613960,;DNAJC10,downstream_gene_variant,,ENST00000537515,;DNAJC10,3_prime_UTR_variant,,ENST00000418559,;DNAJC10,non_coding_transcript_exon_variant,,ENST00000491074,;DNAJC10,downstream_gene_variant,,ENST00000444005,;	A	ENST00000264065	Transcript	missense_variant	1536/20129	1121/2382	374/793	G/E	gGa/gAa		1		1	DNAJC10	HGNC	HGNC:24637	protein_coding	YES	CCDS33345.1	ENSP00000264065	Q8IXB1		UPI000007376C	NM_018981.2	deleterious(0.03)		13/24		hmmpanther:PTHR24078:SF235,hmmpanther:PTHR24078,Gene3D:3.40.30.10,PIRSF_domain:PIRSF037293,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	182741286	182741286	G	A	1	0	0	0	0	1	0	0	0	4443	1174	41	3		3	DNAJC10	2	182741286	Missense_Mutation	SNP	G	11LU016_TP	4183217	182741286	59452243	89	145											
FAM171B	0	.	GRCh38	chr2	186761718	186761718	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtaaaaactcgggacgAttttaaaatctacaatgaag	17	10	8	6	2	1	1	0	1	1	0	2	3	1	2	0	2	2	1	0	2	8	4	novel		11LU016_TP	11LU016_NB	A	A																c.1376A>T	p.Asp459Val	p.D459V	ENST00000304698	8/8	200	165	35	173	173	0	strelka-varscan	FAM171B,missense_variant,p.Asp459Val,ENST00000304698,NM_177454.3;	T	ENST00000304698	Transcript	missense_variant	1579/5826	1376/2481	459/826	D/V	gAt/gTt		1		1	FAM171B	HGNC	HGNC:29412	protein_coding	YES	CCDS33347.1	ENSP00000304108	Q6P995		UPI0000161631	NM_177454.3	deleterious(0.01)		8/8		hmmpanther:PTHR31626:SF2,hmmpanther:PTHR31626,Pfam_domain:PF10577																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	186761718	186761718	A	T	1	0	0	0	0	1	0	0	0	5339	333	12	4		4	FAM171B	2	186761718	Missense_Mutation	SNP	A	11LU016_TP	4020432	186761718	55431811	90	146											
CALCRL	0	.	GRCh38	chr2	187359256	187359256	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatggcatgtatacaagcAggaatcagtggaaatcctgt	14	9	11	7	0	1	0	1	0	0	0	2	2	2	2	1	3	2	4	1	3	6	2	novel		11LU016_TP	11LU016_NB	A	A																c.798T>A	p.=	p.P266P	ENST00000409998	12/16	128	116	12	103	103	0	strelka-varscan	CALCRL,synonymous_variant,p.=,ENST00000409998,;CALCRL,synonymous_variant,p.=,ENST00000392370,NM_005795.5;CALCRL,synonymous_variant,p.=,ENST00000410068,NM_001271751.1;AC007319.1,intron_variant,,ENST00000412276,;AC007319.1,intron_variant,,ENST00000453517,;	T	ENST00000409998	Transcript	synonymous_variant	1580/5223	798/1386	266/461	P	ccT/ccA		1		-1	CALCRL	HGNC	HGNC:16709	protein_coding	YES	CCDS2293.1	ENSP00000386972	Q16602		UPI00000503EF				12/16		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF67,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR01350,Prints_domain:PR00249																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	2	187359256	187359256	A	T	1	0	0	0	0	0	0	0	1	2270	175	7	4		4	CALCRL	2	187359256	Silent	SNP	A	11LU016_TP	597538	187359256	54834273	91	147											
FZD5	0	.	GRCh38	chr2	207768136	207768136	+	Nonsense_Mutation	SNP	C	C	A																															gttgtagagcgggtgtgactCcttcagaatgggcacgaagg																								novel		11LU016_TP	11LU016_NB	C	C																c.604G>T	p.Glu202Ter	p.E202*	ENST00000295417	2/2	263	220	43	297	297	0	strelka-varscan	FZD5,stop_gained,p.Glu202Ter,ENST00000295417,NM_003468.3;	A	ENST00000295417	Transcript	stop_gained	1158/6708	604/1758	202/585	E/*	Gag/Tag		1		-1	FZD5	HGNC	HGNC:4043	protein_coding	YES	CCDS33366.1	ENSP00000354607	Q13467		UPI000013E255	NM_003468.3			2/2		hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF91																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	2	207768136	207768136	C	A	1	0	0	0	0	0	1	0	0	6004	864	30	2		2	FZD5	2	207768136	Nonsense_Mutation	SNP	C	11LU016_TP	20408880	207768136	34425393	92	148	2	2									
FZD5	0	.	GRCh38	chr2	207768137	207768137	+	Missense_Mutation	SNP	C	C	A																															ttgtagagcgggtgtgactcCttcagaatgggcacgaaggg																								rs766628090		11LU016_TP	11LU016_NB	C	C																c.603G>T	p.Lys201Asn	p.K201N	ENST00000295417	2/2	265	221	44	298	297	1	strelka-varscan	FZD5,missense_variant,p.Lys201Asn,ENST00000295417,NM_003468.3;	A	ENST00000295417	Transcript	missense_variant	1157/6708	603/1758	201/585	K/N	aaG/aaT	rs766628090	1		-1	FZD5	HGNC	HGNC:4043	protein_coding	YES	CCDS33366.1	ENSP00000354607	Q13467		UPI000013E255	NM_003468.3	tolerated(0.43)		2/2		hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF91																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	207768137	207768137	C	A	1	0	0	0	0	1	0	0	0	6004	680	24	2		2	FZD5	2	207768137	Missense_Mutation	SNP	C	11LU016_TP	1	207768137	34425392	93	149	2	2									
ERBB4	0	.	GRCh38	chr2	211424271	211424271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccatcatagggttttcctCcaaaggtcatcagttcccat	9	14	6	12	0	3	0	3	0	0	0	7	0	7	0	4	2	0	2	4	2	2	5	novel		11LU016_TP	11LU016_NB	C	C																c.2750G>T	p.Gly917Val	p.G917V	ENST00000342788	23/28	324	271	53	277	276	1	strelka-varscan	ERBB4,missense_variant,p.Gly917Val,ENST00000342788,NM_005235.2;ERBB4,missense_variant,p.Gly917Val,ENST00000436443,NM_001042599.1;ERBB4,missense_variant,p.Gly891Val,ENST00000402597,;	A	ENST00000342788	Transcript	missense_variant	3061/12136	2750/3927	917/1308	G/V	gGa/gTa		1		-1	ERBB4	HGNC	HGNC:3432	protein_coding	YES	CCDS2394.1	ENSP00000342235	Q15303		UPI00000499DF	NM_005235.2	deleterious(0)		23/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF90,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000619,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	211424271	211424271	C	A	1	0	0	0	0	1	0	0	0	5057	855	30	2		2	ERBB4	2	211424271	Missense_Mutation	SNP	C	11LU016_TP	3656134	211424271	30769258	94	150											
ABCA12	0	.	GRCh38	chr2	215019724	215019724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagctcatatcagagagctGgcatgacttctctatcaaac	14	10	7	10	0	4	2	3	1	1	1	5	3	4	2	0	1	3	3	0	1	4	3	novel		11LU016_TP	11LU016_NB	G	G																c.1360C>A	p.Gln454Lys	p.Q454K	ENST00000272895	12/53	485	409	76	377	376	1	strelka-varscan	ABCA12,missense_variant,p.Gln454Lys,ENST00000272895,NM_173076.2;ABCA12,missense_variant,p.Gln136Lys,ENST00000389661,NM_015657.3;AC072062.3,intron_variant,,ENST00000617699,;AC072062.3,intron_variant,,ENST00000627811,;AC072062.3,upstream_gene_variant,,ENST00000437897,;AC072062.3,upstream_gene_variant,,ENST00000595058,;AC072062.3,upstream_gene_variant,,ENST00000419251,;AC072062.3,upstream_gene_variant,,ENST00000627336,;AC072062.3,upstream_gene_variant,,ENST00000615813,;AC072062.3,upstream_gene_variant,,ENST00000602182,;	T	ENST00000272895	Transcript	missense_variant	1580/9100	1360/7788	454/2595	Q/K	Cag/Aag		1		-1	ABCA12	HGNC	HGNC:14637	protein_coding	YES	CCDS33372.1	ENSP00000272895	Q86UK0		UPI000019AB7A	NM_173076.2	tolerated(0.18)		12/53																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	215019724	215019724	G	T	1	0	0	0	0	1	0	0	0	34	1357	47	2		2	ABCA12	2	215019724	Missense_Mutation	SNP	G	11LU016_TP	3595453	215019724	27173805	95	151											
SP140	0	.	GRCh38	chr2	230285769	230285769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagataatagcaaagccgacGgccaggtggtctccagtgaa	13	6	12	10	2	1	2	0	1	1	1	2	3	1	2	3	3	2	1	3	3	4	2	rs776385432		11LU016_TP	11LU016_NB	G	G																c.1582G>T	p.Gly528Cys	p.G528C	ENST00000392045	17/27	179	169	10	178	177	1	strelka-varscan	SP140,missense_variant,p.Gly528Cys,ENST00000392045,NM_007237.4;SP140,missense_variant,p.Gly501Cys,ENST00000420434,NM_001278451.1;SP140,missense_variant,p.Gly468Cys,ENST00000343805,NM_001278452.1;SP140,missense_variant,p.Gly414Cys,ENST00000417495,NM_001278453.1;SP140,non_coding_transcript_exon_variant,,ENST00000476126,;	T	ENST00000392045	Transcript	missense_variant	1696/3246	1582/2604	528/867	G/C	Ggc/Tgc	rs776385432	1		1	SP140	HGNC	HGNC:17133	protein_coding	YES	CCDS42831.1	ENSP00000375899	Q13342		UPI0000209746	NM_007237.4	deleterious(0)		17/27																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	2	230285769	230285769	G	T	1	0	0	0	0	1	0	0	0	15288	1116	39	1		1	SP140	2	230285769	Missense_Mutation	SNP	G	11LU016_TP	15266045	230285769	11907760	96	152											
NMUR1	0	.	GRCh38	chr2	231525373	231525373	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacgacgctccacatgacGcggtcggcgtggaacggggc	8	4	16	13	7	0	1	0	1	0	0	2	4	1	2	1	5	1	1	1	5	1	0	rs367827633		11LU016_TP	11LU016_NB	G	G																c.951C>G	p.=	p.R317R	ENST00000305141	3/3	122	101	21	135	135	0	strelka-varscan	NMUR1,synonymous_variant,p.=,ENST00000305141,NM_006056.4;	C	ENST00000305141	Transcript	synonymous_variant	1085/3298	951/1281	317/426	R	cgC/cgG	rs367827633	1		-1	NMUR1	HGNC	HGNC:4518	protein_coding	YES	CCDS2486.1	ENSP00000305877	Q9HB89		UPI0000071CAE	NM_006056.4			3/3		PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF109,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01565,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	2	231525373	231525373	G	C	1	0	0	0	0	0	0	0	1	10547	1074	38	4		4	NMUR1	2	231525373	Silent	SNP	G	11LU016_TP	1239604	231525373	10668156	97	153											
ALPI	0	.	GRCh38	chr2	232457012	232457012	+	Missense_Mutation	SNP	C	C	A																															agtgcagccgcccgctttaaCcagtgcaacacgacacgcgg																								novel		11LU016_TP	11LU016_NB	C	C																c.414C>A	p.Asn138Lys	p.N138K	ENST00000295463	4/11	367	320	47	345	345	0	strelka-varscan	ALPI,missense_variant,p.Asn138Lys,ENST00000295463,NM_001631.4;ALPI,3_prime_UTR_variant,,ENST00000457560,;	A	ENST00000295463	Transcript	missense_variant	491/2550	414/1587	138/528	N/K	aaC/aaA		1		1	ALPI	HGNC	HGNC:437	protein_coding	YES	CCDS2492.1	ENSP00000295463	P09923	A0A024R4A2	UPI0000131FFE	NM_001631.4	tolerated(0.32)		4/11		hmmpanther:PTHR11596:SF31,hmmpanther:PTHR11596,Pfam_domain:PF00245,Gene3D:3.40.720.10,SMART_domains:SM00098,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	232457012	232457012	C	A	1	0	0	0	0	1	0	0	0	643	506	18	2		2	ALPI	2	232457012	Missense_Mutation	SNP	C	11LU016_TP	931639	232457012	9736517	98	154	3	2									
ALPI	0	.	GRCh38	chr2	232457013	232457013	+	Missense_Mutation	SNP	C	C	A																															gtgcagccgcccgctttaacCagtgcaacacgacacgcggc																								rs749694571		11LU016_TP	11LU016_NB	C	C																c.415C>A	p.Gln139Lys	p.Q139K	ENST00000295463	4/11	362	315	47	344	342	2	strelka-varscan	ALPI,missense_variant,p.Gln139Lys,ENST00000295463,NM_001631.4;ALPI,3_prime_UTR_variant,,ENST00000457560,;	A	ENST00000295463	Transcript	missense_variant	492/2550	415/1587	139/528	Q/K	Cag/Aag	rs749694571	1		1	ALPI	HGNC	HGNC:437	protein_coding	YES	CCDS2492.1	ENSP00000295463	P09923	A0A024R4A2	UPI0000131FFE	NM_001631.4	tolerated(0.29)		4/11		hmmpanther:PTHR11596:SF31,hmmpanther:PTHR11596,Pfam_domain:PF00245,Gene3D:3.40.720.10,SMART_domains:SM00098,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	232457013	232457013	C	A	1	0	0	0	0	1	0	0	0	643	595	21	2		2	ALPI	2	232457013	Missense_Mutation	SNP	C	11LU016_TP	1	232457013	9736516	99	155	3	2									
KIF1A	0	.	GRCh38	chr2	240761268	240761268	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggcattggcctccttGaggaagatggcgttgcccca	7	10	13	11	1	0	3	0	2	0	1	1	4	1	4	4	4	1	2	4	4	1	3	novel		11LU016_TP	11LU016_NB	G	G																c.2226C>A	p.=	p.L742L	ENST00000498729	24/49	118	98	20	92	92	0	strelka-varscan	KIF1A,synonymous_variant,p.=,ENST00000498729,NM_001244008.1;KIF1A,synonymous_variant,p.=,ENST00000320389,NM_004321.6;KIF1A,synonymous_variant,p.=,ENST00000404283,;	T	ENST00000498729	Transcript	synonymous_variant	2473/9223	2226/5376	742/1791	L	ctC/ctA		1		-1	KIF1A	HGNC	HGNC:888	protein_coding	YES	CCDS58757.1	ENSP00000438388	Q12756		UPI0002065B81	NM_001244008.1			24/49		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF361																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	240761268	240761268	G	T	1	0	0	0	0	0	0	0	1	8147	1277	45	2		2	KIF1A	2	240761268	Silent	SNP	G	11LU016_TP	8304255	240761268	1432261	100	156											
ANO7	0	.	GRCh38	chr2	241199373	241199373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctcctcagcgcctcctggGctgtgctctgctactacgcc	3	10	9	19	2	2	0	1	0	1	0	4	0	4	0	5	1	5	3	5	1	2	2	novel		11LU016_TP	11LU016_NB	G	G																c.529G>T	p.Ala177Ser	p.A177S	ENST00000274979	5/25	347	287	60	306	306	0	strelka-varscan	ANO7,missense_variant,p.Ala177Ser,ENST00000274979,NM_001001891.3;ANO7,missense_variant,p.Ala176Ser,ENST00000402430,;ANO7,downstream_gene_variant,,ENST00000402530,NM_001001666.3;ANO7,non_coding_transcript_exon_variant,,ENST00000475532,;	T	ENST00000274979	Transcript	missense_variant	632/4128	529/2802	177/933	A/S	Gct/Tct		1		1	ANO7	HGNC	HGNC:31677	protein_coding	YES	CCDS33423.1	ENSP00000274979	Q6IWH7		UPI0000D612DB	NM_001001891.3	tolerated(0.73)		5/25		hmmpanther:PTHR12308:SF22,hmmpanther:PTHR12308,Pfam_domain:PF16178																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	241199373	241199373	G	T	1	0	0	0	0	1	0	0	0	809	1203	42	2		2	ANO7	2	241199373	Missense_Mutation	SNP	G	11LU016_TP	438105	241199373	994156	101	157											
VHL	0	.	GRCh38	chr3	10142151	10142151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcagccctacccaacgctgCcgcctggcacgggccgccgc	5	3	12	21	6	0	0	0	0	0	0	0	0	0	0	6	2	4	3	6	2	2	1	rs532018719		11LU016_TP	11LU016_NB	C	C																c.304C>T	p.Pro102Ser	p.P102S	ENST00000256474	1/3	331	310	21	394	394	0	strelka-varscan-mutect	VHL,missense_variant,p.Pro102Ser,ENST00000256474,NM_000551.3;VHL,missense_variant,p.Pro102Ser,ENST00000345392,NM_198156.2;VHL,upstream_gene_variant,,ENST00000477538,;	T	ENST00000256474	Transcript	missense_variant	1144/3737	304/642	102/213	P/S	Ccg/Tcg	rs532018719,COSM17734	1		1	VHL	HGNC	HGNC:12687	protein_coding	YES	CCDS2597.1	ENSP00000256474	P40337	A0A024R2F2	UPI0000035C95	NM_000551.3	tolerated(0.77)		1/3		Superfamily_domains:0040561,Gene3D:1lm8V02,PD035809,Pfam_domain:PF01847,hmmpanther:PTHR15160,hmmpanther:PTHR15160:SF5											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs532018719	.												T	3	4	2	10142151	10142151	C	T	1	0	0	0	0	1	0	0	0	17708	739	26	3		3	VHL	3	10142151	Missense_Mutation	SNP	C	11LU016_TP		10142151	188153408	102	158											
SYN2	0	.	GRCh38	chr3	12187401	12187401	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccccaaggaatgcagcccCcaggcaaggtgctgcctcca	11	4	10	16	0	0	0	0	0	0	0	1	1	1	1	6	3	5	3	6	3	4	0	novel		11LU016_TP	11LU016_NB	C	C																c.1402C>A	p.Pro468Thr	p.P468T	ENST00000621198	12/13	94	75	19	85	85	0	strelka-varscan-mutect	SYN2,missense_variant,p.Pro468Thr,ENST00000621198,NM_133625.4;SYN2,downstream_gene_variant,,ENST00000620175,NM_003178.5;SYN2,non_coding_transcript_exon_variant,,ENST00000439861,;SYN2,downstream_gene_variant,,ENST00000425297,;	A	ENST00000621198	Transcript	missense_variant	1552/2674	1402/1749	468/582	P/T	Cca/Aca		1		1	SYN2	HGNC	HGNC:11495	protein_coding	YES	CCDS74900.1	ENSP00000480050		A0A087WW96	UPI0000167B8A	NM_133625.4	tolerated(0.08)		12/13		Low_complexity_(Seg):seg,hmmpanther:PTHR10841:SF20,hmmpanther:PTHR10841																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	12187401	12187401	C	A	1	0	0	0	0	1	0	0	0	15831	623	22	2		2	SYN2	3	12187401	Missense_Mutation	SNP	C	11LU016_TP	2045250	12187401	186108158	103	159											
NEK10	0	.	GRCh38	chr3	27111303	27111303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtgattcttggtccccCatggataggaatgataccta	9	13	11	8	0	1	2	0	2	1	0	2	4	2	4	3	4	1	0	3	4	4	6	novel		11LU016_TP	11LU016_NB	C	C																c.3488G>T	p.Trp1163Leu	p.W1163L	ENST00000429845	39/39	120	99	21	125	124	1	strelka-varscan-mutect	NEK10,missense_variant,p.Trp1163Leu,ENST00000429845,NM_152534.4;NEK10,missense_variant,p.Trp475Leu,ENST00000295720,NM_001304384.1;NEK10,missense_variant,p.Trp465Leu,ENST00000383771,NM_001031741.3;NEK10,missense_variant,p.Trp409Leu,ENST00000383770,;	A	ENST00000429845	Transcript	missense_variant	3851/4250	3488/3519	1163/1172	W/L	tGg/tTg		1		-1	NEK10	HGNC	HGNC:18592	protein_coding			ENSP00000395849	Q6ZWH5		UPI0000EE2A86	NM_152534.4	tolerated_low_confidence(0.23)		39/39																			MODERATE		SNV	5			1										PASS		.	.												A	3	1	2	27111303	27111303	C	A	1	0	0	0	0	1	0	0	0	10350	595	21	2		2	NEK10	3	27111303	Missense_Mutation	SNP	C	11LU016_TP	14923902	27111303	171184256	104	160											
GOLGA4	0	.	GRCh38	chr3	37315491	37315491	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggagaaaactgaaggcaGaaatggatgaacaaataaaa	22	4	10	5	1	0	4	0	2	0	2	0	6	0	5	0	3	2	1	0	3	8	1			11LU016_TP	11LU016_NB	G	G																c.1372G>T	p.Glu458Ter	p.E458*	ENST00000356847	12/23	230	186	44	200	200	0	strelka-varscan-mutect	GOLGA4,stop_gained,p.Glu436Ter,ENST00000361924,NM_002078.4;GOLGA4,stop_gained,p.Glu458Ter,ENST00000356847,NM_001172713.1;GOLGA4,stop_gained,p.Glu307Ter,ENST00000437131,;GOLGA4,stop_gained,p.Glu441Ter,ENST00000450863,;GOLGA4,intron_variant,,ENST00000429018,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,non_coding_transcript_exon_variant,,ENST00000435830,;	T	ENST00000356847	Transcript	stop_gained	1671/7673	1372/6732	458/2243	E/*	Gaa/Taa	COSM446410	1		1	GOLGA4	HGNC	HGNC:4427	protein_coding	YES	CCDS54564.1	ENSP00000349305	Q13439		UPI000198C9CA	NM_001172713.1			12/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19327											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	2	37315491	37315491	G	T	1	0	0	0	0	0	1	0	0	6433	943	33	2		2	GOLGA4	3	37315491	Nonsense_Mutation	SNP	G	11LU016_TP	10204188	37315491	160980068	105	161											
SCN11A	0	.	GRCh38	chr3	38950211	38950211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttaggtcaagctgaggcCgaggctggggtacttctcct	6	11	13	11	1	2	1	1	1	1	0	3	2	2	1	3	5	2	3	3	5	3	4	novel		11LU016_TP	11LU016_NB	C	C																c.152G>T	p.Arg51Leu	p.R51L	ENST00000302328	1/26	345	319	26	344	344	0	strelka-varscan-mutect	SCN11A,missense_variant,p.Arg51Leu,ENST00000302328,NM_014139.2,NM_001287223.1;SCN11A,missense_variant,p.Arg51Leu,ENST00000444237,;SCN11A,missense_variant,p.Arg51Leu,ENST00000456224,;	A	ENST00000302328	Transcript	missense_variant	351/6500	152/5376	51/1791	R/L	cGg/cTg		1		-1	SCN11A	HGNC	HGNC:10583	protein_coding	YES	CCDS33737.1	ENSP00000307599	Q9UI33		UPI000006CCD7	NM_014139.2,NM_001287223.1	deleterious(0)		1/26		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF210																	MODERATE	1	SNV	5			1										PASS		rs1191368962	.												A	3	1	2	38950211	38950211	C	A	1	0	0	0	0	1	0	0	0	14182	652	23	1		1	SCN11A	3	38950211	Missense_Mutation	SNP	C	11LU016_TP	1634720	38950211	159345348	106	162											
MYRIP	0	.	GRCh38	chr3	40182277	40182277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccctgaagacccctccagtgGaggctccatcgaggcagcca	9	5	11	16	1	0	2	0	1	0	1	3	4	2	3	6	3	1	2	6	3	1	0	novel		11LU016_TP	11LU016_NB	G	G																c.931G>C	p.Glu311Gln	p.E311Q	ENST00000302541	9/17	116	109	7	135	135	0	strelka-varscan-mutect	MYRIP,missense_variant,p.Glu311Gln,ENST00000302541,NM_015460.3;MYRIP,missense_variant,p.Glu222Gln,ENST00000396217,NM_001284425.1;MYRIP,missense_variant,p.Glu124Gln,ENST00000539167,NM_001284426.1;MYRIP,missense_variant,p.Glu311Gln,ENST00000425621,NM_001284424.1;MYRIP,missense_variant,p.Glu311Gln,ENST00000444716,NM_001284423.1;EIF1B-AS1,intron_variant,,ENST00000625390,;MYRIP,non_coding_transcript_exon_variant,,ENST00000459828,;MYRIP,missense_variant,p.Glu311Gln,ENST00000458292,;MYRIP,3_prime_UTR_variant,,ENST00000458441,;	C	ENST00000302541	Transcript	missense_variant	1273/5077	931/2580	311/859	E/Q	Gag/Cag		1		1	MYRIP	HGNC	HGNC:19156	protein_coding	YES	CCDS2689.1	ENSP00000301972	Q8NFW9		UPI0000074787	NM_015460.3	tolerated(0.05)		9/17		Pfam_domain:PF04698,hmmpanther:PTHR14555,hmmpanther:PTHR14555:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	2	40182277	40182277	G	C	1	0	0	0	0	1	0	0	0	10103	1175	41	4		4	MYRIP	3	40182277	Missense_Mutation	SNP	G	11LU016_TP	1232066	40182277	158113282	107	163											
ELP6	0	.	GRCh38	chr3	47501847	47501847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcaagttcccagcattagCctccctggagagacaggaca	11	9	9	12	0	1	1	1	0	0	1	3	4	3	3	3	2	2	2	3	2	2	3	novel		11LU016_TP	11LU016_NB	C	C																c.328G>C	p.Ala110Pro	p.A110P	ENST00000296149	5/7	135	127	8	172	172	0	strelka-varscan-mutect	ELP6,missense_variant,p.Ala110Pro,ENST00000296149,NM_001031703.2;ELP6,missense_variant,p.Ala37Pro,ENST00000444760,;ELP6,missense_variant,p.Ala37Pro,ENST00000446787,;ELP6,missense_variant,p.Ala37Pro,ENST00000439305,;ELP6,missense_variant,p.Ala37Pro,ENST00000412761,;ELP6,missense_variant,p.Ala37Pro,ENST00000425291,;ELP6,missense_variant,p.Ala37Pro,ENST00000449409,;ELP6,missense_variant,p.Ala37Pro,ENST00000414236,;BOLA2P2,downstream_gene_variant,,ENST00000604904,;ELP6,3_prime_UTR_variant,,ENST00000442215,;ELP6,3_prime_UTR_variant,,ENST00000445044,;ELP6,non_coding_transcript_exon_variant,,ENST00000461208,;ELP6,non_coding_transcript_exon_variant,,ENST00000494161,;ELP6,downstream_gene_variant,,ENST00000485029,;BOLA2P2,downstream_gene_variant,,ENST00000603861,;	G	ENST00000296149	Transcript	missense_variant	499/1401	328/801	110/266	A/P	Gct/Cct		1		-1	ELP6	HGNC	HGNC:25976	protein_coding	YES	CCDS43082.1	ENSP00000296149	Q0PNE2		UPI000020A684	NM_001031703.2	tolerated(0.43)		5/7		Pfam_domain:PF09807,hmmpanther:PTHR16184																	MODERATE	1	SNV	1			1										PASS		rs1248103269	.												G	3	3	2	47501847	47501847	C	G	1	0	0	0	0	1	0	0	0	4918	753	26	4		4	ELP6	3	47501847	Missense_Mutation	SNP	C	11LU016_TP	7319570	47501847	150793712	108	164											
WNT5A	0	.	GRCh38	chr3	55470272	55470272	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgttgcacaggcggccCtgcgtgcccagcgagccggt	4	8	15	14	4	1	0	0	0	1	0	1	1	1	0	3	3	5	2	3	3	0	2	novel		11LU016_TP	11LU016_NB	C	C																c.963G>C	p.Gln321His	p.Q321H	ENST00000264634	5/5	218	174	44	215	214	1	strelka-varscan	WNT5A,missense_variant,p.Gln321His,ENST00000264634,NM_003392.4;WNT5A,missense_variant,p.Gln321His,ENST00000474267,;WNT5A,missense_variant,p.Gln306His,ENST00000497027,NM_001256105.1;WNT5A,intron_variant,,ENST00000614415,;WNT5A,downstream_gene_variant,,ENST00000482079,;WNT5A,upstream_gene_variant,,ENST00000493406,;	G	ENST00000264634	Transcript	missense_variant	1620/6176	963/1143	321/380	Q/H	caG/caC		1		-1	WNT5A	HGNC	HGNC:12784	protein_coding	YES	CCDS46850.1	ENSP00000264634	P41221		UPI0000231C66	NM_003392.4	tolerated(0.13)		5/5		hmmpanther:PTHR12027:SF33,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	55470272	55470272	C	G	1	0	0	0	0	1	0	0	0	17947	680	24	4		4	WNT5A	3	55470272	Missense_Mutation	SNP	C	11LU016_TP	7968425	55470272	142825287	109	165											
ARHGEF3	0	.	GRCh38	chr3	56729523	56729530	+	Frame_Shift_Del	DEL	CAGTTAAG	CAGTTAAG	-																															tttctttggcttgacgaataCagttaagccactgctgtttg																								novel		11LU016_TP	11LU016_NB	CAGTTAAG	CAGTTAAG																c.1417_1424delCTTAACTG	p.Leu473TyrfsTer19	p.L473Yfs*19	ENST00000338458	13/13	171	157	14	224	224	0	sindel-pindel	ARHGEF3,frameshift_variant,p.Leu447TyrfsTer19,ENST00000413728,NM_001128616.1;ARHGEF3,frameshift_variant,p.Leu473TyrfsTer19,ENST00000338458,NM_001128615.1;ARHGEF3,frameshift_variant,p.Leu441TyrfsTer19,ENST00000296315,NM_019555.2;ARHGEF3,frameshift_variant,p.Leu412TyrfsTer19,ENST00000497267,;ARHGEF3,frameshift_variant,p.Leu447TyrfsTer19,ENST00000496106,NM_001289698.1;ARHGEF3,downstream_gene_variant,,ENST00000495373,;ARHGEF3,3_prime_UTR_variant,,ENST00000465659,;	-	ENST00000338458	Transcript	frameshift_variant	1527-1534/3639	1417-1424/1677	473-475/558	LNC/X	CTTAACTGt/t		1		-1	ARHGEF3	HGNC	HGNC:683	protein_coding	YES	CCDS46854.1	ENSP00000341071	Q9NR81		UPI00001B3D98	NM_001128615.1			13/13		PROSITE_profiles:PS50003,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF139,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	2	56729523	56729523	CAGTTAAG	-	1	0	1	0	1	0	0	0	0	1037	478	17	0		0	ARHGEF3	3	56729523	Frame_Shift_Del	DEL	CAGTTAAG	11LU016_TP	1259251	56729523	141566036	110	166											
GPR27	0	.	GRCh38	chr3	71754977	71754977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagctacctgcgggtcctgGtgcggcccggcgccgtcccc	2	6	14	19	5	0	0	0	0	0	0	2	0	2	0	7	4	4	1	7	4	1	1	rs755213093		11LU016_TP	11LU016_NB	G	G																c.928G>T	p.Val310Leu	p.V310L	ENST00000304411	1/1	353	307	46	440	439	1	strelka-varscan	GPR27,missense_variant,p.Val310Leu,ENST00000304411,NM_018971.1;EIF4E3,upstream_gene_variant,,ENST00000448225,NM_001134649.2;EIF4E3,upstream_gene_variant,,ENST00000295612,NM_001282886.1;EIF4E3,upstream_gene_variant,,ENST00000421769,NM_173359.4;EIF4E3,upstream_gene_variant,,ENST00000496214,;	T	ENST00000304411	Transcript	missense_variant	928/2447	928/1128	310/375	V/L	Gtg/Ttg	rs755213093	1		1	GPR27	HGNC	HGNC:4482	protein_coding	YES	CCDS2915.1	ENSP00000303149	Q9NS67	F1DAM3	UPI0000049802	NM_018971.1	tolerated(0.42)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF8,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	2	71754977	71754977	G	T	1	0	0	0	0	1	0	0	0	6569	1261	44	2		2	GPR27	3	71754977	Missense_Mutation	SNP	G	11LU016_TP	15025454	71754977	126540582	111	167											
TBC1D23	0	.	GRCh38	chr3	100320883	100320883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgctgaattctgtagttaaaAttacatccaaaaaaaaacat	19	11	4	7	1	1	1	0	1	1	0	2	1	2	1	1	0	2	3	1	0	9	4	novel		11LU016_TP	11LU016_NB	A	A																c.1930A>G	p.Ile644Val	p.I644V	ENST00000394144	18/19	122	98	24	122	122	0	strelka-varscan-mutect	TBC1D23,missense_variant,p.Ile644Val,ENST00000394144,NM_001199198.2;TBC1D23,missense_variant,p.Ile629Val,ENST00000344949,NM_018309.4;TBC1D23,missense_variant,p.Ile507Val,ENST00000475134,;TBC1D23,non_coding_transcript_exon_variant,,ENST00000486274,;TBC1D23,non_coding_transcript_exon_variant,,ENST00000471273,;	G	ENST00000394144	Transcript	missense_variant	1937/3677	1930/2100	644/699	I/V	Att/Gtt		1		1	TBC1D23	HGNC	HGNC:25622	protein_coding	YES	CCDS56265.1	ENSP00000377700	Q9NUY8		UPI000013D5E5	NM_001199198.2	deleterious(0)		18/19		hmmpanther:PTHR13297																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	100320883	100320883	A	G	1	0	0	0	0	1	0	0	0	16013	101	4	5		5	TBC1D23	3	100320883	Missense_Mutation	SNP	A	11LU016_TP	28565906	100320883	97974676	112	168											
BBX	0	.	GRCh38	chr3	107774783	107774783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttggaatgaagaaagctgGacatttagtcagagtgggac	13	10	14	4	0	1	3	1	1	0	2	1	6	1	6	0	3	1	2	0	3	4	3	novel		11LU016_TP	11LU016_NB	G	G																c.1980G>T	p.Trp660Cys	p.W660C	ENST00000325805	12/18	197	177	20	137	137	0	strelka-varscan-mutect	BBX,missense_variant,p.Trp660Cys,ENST00000415149,NM_020235.6;BBX,missense_variant,p.Trp660Cys,ENST00000402543,;BBX,missense_variant,p.Trp660Cys,ENST00000406780,;BBX,missense_variant,p.Trp660Cys,ENST00000325805,NM_001142568.2;BBX,missense_variant,p.Gly324Val,ENST00000416476,NM_001276286.1;BBX,downstream_gene_variant,,ENST00000402163,;BBX,upstream_gene_variant,,ENST00000443253,;BBX,upstream_gene_variant,,ENST00000473542,;BBX,downstream_gene_variant,,ENST00000485939,;BBX,downstream_gene_variant,,ENST00000472032,;	T	ENST00000325805	Transcript	missense_variant	2267/3517	1980/2826	660/941	W/C	tgG/tgT		1		1	BBX	HGNC	HGNC:14422	protein_coding	YES	CCDS46881.1	ENSP00000319974	Q8WY36		UPI000007315E	NM_001142568.2	deleterious(0.04)		12/18		hmmpanther:PTHR13059																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	107774783	107774783	G	T	1	0	0	0	0	1	0	0	0	1490	1183	41	2		2	BBX	3	107774783	Missense_Mutation	SNP	G	11LU016_TP	7453900	107774783	90520776	113	169											
CD200R1L	0	.	GRCh38	chr3	112827210	112827210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcatactgcagttatattCctgctttgaaataggttcac	10	16	7	8	0	1	1	1	1	0	0	2	1	2	1	1	1	4	5	1	1	5	8	novel		11LU016_TP	11LU016_NB	C	C																c.462G>T	p.Arg154Ser	p.R154S	ENST00000398214	4/6	113	90	23	107	107	0	strelka-varscan-mutect	CD200R1L,missense_variant,p.Arg133Ser,ENST00000488794,NM_001199215.1;CD200R1L,missense_variant,p.Arg154Ser,ENST00000398214,NM_001008784.2;CD200R1L,missense_variant,p.Arg139Ser,ENST00000617549,;CD200R1L,missense_variant,p.Arg133Ser,ENST00000448932,;CD200R1L,3_prime_UTR_variant,,ENST00000486723,;	A	ENST00000398214	Transcript	missense_variant	688/1296	462/816	154/271	R/S	agG/agT		1		-1	CD200R1L	HGNC	HGNC:24665	protein_coding	YES	CCDS43131.1	ENSP00000381272	Q6Q8B3		UPI000042263C	NM_001008784.2	tolerated(0.4)		4/6		Gene3D:2.60.40.10,Pfam_domain:PF08205,PROSITE_profiles:PS50835,hmmpanther:PTHR21462,hmmpanther:PTHR21462:SF3,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	112827210	112827210	C	A	1	0	0	0	0	1	0	0	0	2685	854	30	2		2	CD200R1L	3	112827210	Missense_Mutation	SNP	C	11LU016_TP	5052427	112827210	85468349	114	170											
GOLGB1	0	.	GRCh38	chr3	121697669	121697669	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatcttcttccacctgctCtttttttgcttcctcagctc	4	20	3	14	0	4	0	1	0	3	0	7	0	6	0	3	0	3	3	3	0	1	7	novel		11LU016_TP	11LU016_NB	C	C																c.2854G>T	p.Glu952Ter	p.E952*	ENST00000393667	13/22	112	89	23	95	95	0	strelka-varscan-mutect	GOLGB1,stop_gained,p.Glu952Ter,ENST00000393667,NM_001256486.1;GOLGB1,stop_gained,p.Glu947Ter,ENST00000340645,NM_004487.4;GOLGB1,stop_gained,p.Glu872Ter,ENST00000614479,NM_001256488.1,NM_001256487.1;GOLGB1,stop_gained,p.Glu911Ter,ENST00000494517,;GOLGB1,stop_gained,p.Glu818Ter,ENST00000489400,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;	A	ENST00000393667	Transcript	stop_gained	2965/11198	2854/9810	952/3269	E/*	Gag/Tag		1		-1	GOLGB1	HGNC	HGNC:4429	protein_coding	YES	CCDS58847.1	ENSP00000377275	Q14789		UPI0001AE7645	NM_001256486.1			13/22		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18887,hmmpanther:PTHR18887:SF2																	HIGH	1	SNV	1			1										PASS		rs774978171	.												A	4	1	2	121697669	121697669	C	A	1	0	0	0	0	0	1	0	0	6459	922	32	2		2	GOLGB1	3	121697669	Nonsense_Mutation	SNP	C	11LU016_TP	8870459	121697669	76597890	115	171											
CD86	0	.	GRCh38	chr3	122103811	122103811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcccacaggaatgattCgcatccaccagatgaattct	15	8	7	11	1	1	3	0	2	1	1	3	4	2	4	3	1	1	1	3	1	4	2	rs770052627		11LU016_TP	11LU016_NB	C	C																c.364C>A	p.Arg122Ser	p.R122S	ENST00000330540	3/7	118	99	19	125	125	0	strelka-varscan-mutect	CD86,missense_variant,p.Arg122Ser,ENST00000330540,NM_175862.4;CD86,missense_variant,p.Arg116Ser,ENST00000264468,NM_176892.1;CD86,missense_variant,p.Arg40Ser,ENST00000469710,NM_001206925.1;CD86,missense_variant,p.Arg116Ser,ENST00000393627,NM_006889.4;CD86,missense_variant,p.Arg118Ser,ENST00000478741,;CD86,missense_variant,p.Arg116Ser,ENST00000482356,;CD86,intron_variant,,ENST00000493101,NM_001206924.1;CD86,downstream_gene_variant,,ENST00000483949,;	A	ENST00000330540	Transcript	missense_variant	480/2708	364/990	122/329	R/S	Cgc/Agc	rs770052627	1		1	CD86	HGNC	HGNC:1705	protein_coding	YES	CCDS3009.1	ENSP00000332049	P42081		UPI00001AFC7C	NM_175862.4	tolerated(0.46)		3/7		PROSITE_profiles:PS50835,hmmpanther:PTHR25466,hmmpanther:PTHR25466:SF2,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs770052627	.												A	3	1	2	122103811	122103811	C	A	1	0	0	0	0	1	0	0	0	2747	884	31	1		1	CD86	3	122103811	Missense_Mutation	SNP	C	11LU016_TP	406142	122103811	76191748	116	172											
HEG1	0	.	GRCh38	chr3	125019592	125019592	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcaagctgatgttctcCaaaggctgtaaggtaatata	12	11	11	7	0	1	1	0	1	1	0	2	1	1	1	1	3	1	7	1	3	6	5	novel		11LU016_TP	11LU016_NB	C	C																c.1258G>T	p.Gly420Ter	p.G420*	ENST00000311127	5/17	119	97	22	107	107	0	strelka-varscan-mutect	HEG1,stop_gained,p.Gly420Ter,ENST00000311127,NM_020733.1;HEG1,upstream_gene_variant,,ENST00000477536,;	A	ENST00000311127	Transcript	stop_gained	1326/9156	1258/4146	420/1381	G/*	Gga/Tga		1		-1	HEG1	HGNC	HGNC:29227	protein_coding	YES	CCDS46898.1	ENSP00000311502	Q9ULI3		UPI00006C069B	NM_020733.1			5/17		hmmpanther:PTHR24037:SF3,hmmpanther:PTHR24037																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	2	125019592	125019592	C	A	1	0	0	0	0	0	1	0	0	6926	608	21	2		2	HEG1	3	125019592	Nonsense_Mutation	SNP	C	11LU016_TP	2915781	125019592	73275967	117	173											
NMNAT3	0	.	GRCh38	chr3	139599355	139599355	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttggtgtttctgtgggcAcaagcacagtctggccccta	7	11	12	11	0	2	0	0	0	2	0	2	0	2	0	2	3	2	4	2	3	2	3	novel		11LU016_TP	11LU016_NB	A	A																c.223T>A	p.Cys75Ser	p.C75S	ENST00000514703	4/4	206	167	39	217	217	0	strelka-varscan-mutect	NMNAT3,missense_variant,p.Cys75Ser,ENST00000514703,;NMNAT3,intron_variant,,ENST00000339837,NM_178177.3;NMNAT3,intron_variant,,ENST00000413939,NM_001200047.1;NMNAT3,intron_variant,,ENST00000296202,;NMNAT3,intron_variant,,ENST00000511444,;NMNAT3,intron_variant,,ENST00000512391,;NMNAT3,intron_variant,,ENST00000509291,;NMNAT3,intron_variant,,ENST00000506254,NM_001320513.1;	T	ENST00000514703	Transcript	missense_variant	377/584	223/297	75/98	C/S	Tgc/Agc		1		-1	NMNAT3	HGNC	HGNC:20989	protein_coding			ENSP00000426375		D6RGG8	UPI0000EE21AE		tolerated(0.77)		4/4																			MODERATE		SNV	5			1										PASS		.	.												T	3	4	2	139599355	139599355	A	T	1	0	0	0	0	1	0	0	0	10539	159	6	4		4	NMNAT3	3	139599355	Missense_Mutation	SNP	A	11LU016_TP	14579763	139599355	58696204	118	174											
PLOD2	0	.	GRCh38	chr3	146121180	146121180	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacttctttcattaatctCactttctggccccctccaat	8	16	3	14	0	4	1	2	1	3	0	6	1	5	1	3	1	0	0	3	1	2	4	novel		11LU016_TP	11LU016_NB	C	C																c.270G>T	p.=	p.V90V	ENST00000282903	3/20	343	275	68	260	260	0	strelka-varscan-mutect	PLOD2,synonymous_variant,p.=,ENST00000282903,NM_182943.2;PLOD2,synonymous_variant,p.=,ENST00000360060,NM_000935.2;PLOD2,synonymous_variant,p.=,ENST00000494950,;PLOD2,synonymous_variant,p.=,ENST00000469350,;PLOD2,3_prime_UTR_variant,,ENST00000480704,;	A	ENST00000282903	Transcript	synonymous_variant	448/3732	270/2277	90/758	V	gtG/gtT		1		-1	PLOD2	HGNC	HGNC:9082	protein_coding	YES	CCDS3132.1	ENSP00000282903	O00469		UPI0000049C44	NM_182943.2			3/20		hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF6																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	146121180	146121180	C	A	1	0	0	0	0	0	0	0	1	12198	813	29	2		2	PLOD2	3	146121180	Silent	SNP	C	11LU016_TP	6521825	146121180	52174379	119	175											
GPR149	0	.	GRCh38	chr3	154428881	154428881	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagggaaaccactctcccCgcagtaggaggggtcccagg	10	4	14	13	1	1	0	0	0	1	0	3	3	2	2	4	5	1	2	4	5	2	1	rs754858826		11LU016_TP	11LU016_NB	C	C																c.735G>T	p.=	p.A245A	ENST00000389740	1/4	212	166	46	220	219	1	strelka-varscan-mutect	GPR149,synonymous_variant,p.=,ENST00000389740,NM_001038705.1;	A	ENST00000389740	Transcript	synonymous_variant	835/2323	735/2196	245/731	A	gcG/gcT	rs754858826	1		-1	GPR149	HGNC	HGNC:23627	protein_coding	YES	CCDS43162.1	ENSP00000374390	Q86SP6	Q2MKA6	UPI00001AEEA9	NM_001038705.1			1/4		PROSITE_profiles:PS50262																	LOW	1	SNV	1			1										PASS		rs754858826	.												A	2	1	2	154428881	154428881	C	A	1	0	0	0	0	0	0	0	1	6540	639	23	1		1	GPR149	3	154428881	Silent	SNP	C	11LU016_TP	8307701	154428881	43866678	120	176											
ZBBX	0	.	GRCh38	chr3	167372871	167372871	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatttccaggttttccccAtggaagaactacaaaatctt	14	12	6	9	0	1	2	0	0	1	2	3	3	3	3	3	2	2	1	3	2	6	5	rs375762855		11LU016_TP	11LU016_NB	A	A																c.31T>C	p.Trp11Arg	p.W11R	ENST00000455345	3/21	74	65	9	99	99	0	strelka-varscan-mutect	ZBBX,missense_variant,p.Trp11Arg,ENST00000392766,NM_024687.3;ZBBX,missense_variant,p.Trp11Arg,ENST00000455345,NM_001199201.1;ZBBX,missense_variant,p.Trp11Arg,ENST00000307529,;ZBBX,missense_variant,p.Trp11Arg,ENST00000474464,;ZBBX,5_prime_UTR_variant,,ENST00000392767,;ZBBX,5_prime_UTR_variant,,ENST00000392764,NM_001199202.1;ZBBX,5_prime_UTR_variant,,ENST00000485651,;ZBBX,intron_variant,,ENST00000469220,;ZBBX,non_coding_transcript_exon_variant,,ENST00000473888,;	G	ENST00000455345	Transcript	missense_variant	315/3185	31/2520	11/839	W/R	Tgg/Cgg	rs375762855,COSM3203221,COSM3203222	1		-1	ZBBX	HGNC	HGNC:26245	protein_coding	YES	CCDS56296.1	ENSP00000390232	A8MT70		UPI000020A746	NM_001199201.1	tolerated(0.08)		3/21		hmmpanther:PTHR28634											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs375762855	.												G	3	3	2	167372871	167372871	A	G	1	0	0	0	0	1	0	0	0	18078	217	8	5		5	ZBBX	3	167372871	Missense_Mutation	SNP	A	11LU016_TP	12943990	167372871	30922688	121	177											
NLGN1	0	.	GRCh38	chr3	174279235	174279235	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtatatcagctagtgattttGactttgctgtttcaaatttt	9	20	7	5	0	2	2	2	2	0	0	2	2	2	2	0	0	2	4	0	0	4	9	novel		11LU016_TP	11LU016_NB	G	G																c.1234G>C	p.Asp412His	p.D412H	ENST00000457714	6/7	125	103	22	92	92	0	strelka-varscan-mutect	NLGN1,missense_variant,p.Asp412His,ENST00000457714,NM_014932.3;NLGN1,missense_variant,p.Asp412His,ENST00000361589,;NLGN1,missense_variant,p.Asp197His,ENST00000401917,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,non_coding_transcript_exon_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;NLGN1,downstream_gene_variant,,ENST00000469564,;NLGN1,downstream_gene_variant,,ENST00000490929,;	C	ENST00000457714	Transcript	missense_variant	1663/8242	1234/2472	412/823	D/H	Gac/Cac		1		1	NLGN1	HGNC	HGNC:14291	protein_coding	YES	CCDS3222.1	ENSP00000392500	Q8N2Q7		UPI0000072F54	NM_014932.3	deleterious(0)		6/7		hmmpanther:PTHR11559:SF52,hmmpanther:PTHR11559,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		rs1470109013	.												C	3	2	2	174279235	174279235	G	C	1	0	0	0	0	1	0	0	0	10498	1290	45	4		4	NLGN1	3	174279235	Missense_Mutation	SNP	G	11LU016_TP	6906364	174279235	24016324	122	178											
PIK3CA	0	.	GRCh38	chr3	179203771	179203771	+	Missense_Mutation	SNP	T	T	A																															gcaacctacgtgaatgtaaaTattcgagacattgataaggt																										11LU016_TP	11LU016_NB	T	T																c.1041T>A	p.Asn347Lys	p.N347K	ENST00000263967	5/21	101	93	8	53	53	0	strelka-varscan-mutect	PIK3CA,missense_variant,p.Asn347Lys,ENST00000263967,NM_006218.2;PIK3CA,downstream_gene_variant,,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	A	ENST00000263967	Transcript	missense_variant	1198/9093	1041/3207	347/1068	N/K	aaT/aaA	COSM5613054	1		1	PIK3CA	HGNC	HGNC:8975	protein_coding	YES	CCDS43171.1	ENSP00000263967	P42336		UPI000013D494	NM_006218.2	deleterious(0.04)		5/21		Gene3D:2.60.40.150,PROSITE_profiles:PS51547,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF54,SMART_domains:SM00142,Superfamily_domains:SSF49562											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	2	179203771	179203771	T	A	1	0	0	0	0	1	0	0	0	12008	1403	49	4		4	PIK3CA	3	179203771	Missense_Mutation	SNP	T	11LU016_TP	4924536	179203771	19091788	123	179	4	2									
PIK3CA	0	.	GRCh38	chr3	179203778	179203778	+	Missense_Mutation	SNP	G	G	C																															acgtgaatgtaaatattcgaGacattgataaggtaaagtca																										11LU016_TP	11LU016_NB	G	G																c.1048G>C	p.Asp350His	p.D350H	ENST00000263967	5/21	84	78	6	49	49	0	strelka-mutect	PIK3CA,missense_variant,p.Asp350His,ENST00000263967,NM_006218.2;PIK3CA,downstream_gene_variant,,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,;	C	ENST00000263967	Transcript	missense_variant	1205/9093	1048/3207	350/1068	D/H	Gac/Cac	COSM1736106,COSM582510,COSM582511,COSM755	1		1	PIK3CA	HGNC	HGNC:8975	protein_coding	YES	CCDS43171.1	ENSP00000263967	P42336		UPI000013D494	NM_006218.2	deleterious(0)		5/21		Gene3D:2.60.40.150,PROSITE_profiles:PS51547,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF54,SMART_domains:SM00142,Superfamily_domains:SSF49562											1,1,1,1						MODERATE	1	SNV	2		1,1,1,1	1										PASS		rs1064793349	.												C	3	2	2	179203778	179203778	G	C	1	0	0	0	0	1	0	0	0	12008	942	33	4		4	PIK3CA	3	179203778	Missense_Mutation	SNP	G	11LU016_TP	7	179203778	19091781	124	180	4	2									
PEX5L	0	.	GRCh38	chr3	179808399	179808399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatctccattttggtgggcaGcttccagatataattccttc	8	16	7	10	0	1	1	0	0	1	1	5	1	3	1	3	2	1	2	3	2	3	8	novel		11LU016_TP	11LU016_NB	G	G																c.1391C>T	p.Ala464Val	p.A464V	ENST00000467460	13/15	69	62	7	63	63	0	strelka-varscan-mutect	PEX5L,missense_variant,p.Ala464Val,ENST00000467460,NM_016559.2;PEX5L,missense_variant,p.Ala356Val,ENST00000392649,;PEX5L,missense_variant,p.Ala429Val,ENST00000485199,NM_001256752.1;PEX5L,missense_variant,p.Ala462Val,ENST00000263962,NM_001256750.1;PEX5L,missense_variant,p.Ala421Val,ENST00000476138,NM_001256754.1;PEX5L,missense_variant,p.Ala272Val,ENST00000468741,NM_001256756.1;PEX5L,missense_variant,p.Ala405Val,ENST00000472994,NM_001256753.1;PEX5L,missense_variant,p.Ala440Val,ENST00000465751,NM_001256751.1;PEX5L,missense_variant,p.Ala356Val,ENST00000464614,NM_001256755.1;RP11-494H4.3,downstream_gene_variant,,ENST00000602704,;PEX5L,non_coding_transcript_exon_variant,,ENST00000467440,;PEX5L,downstream_gene_variant,,ENST00000461537,;PEX5L,downstream_gene_variant,,ENST00000477829,;	A	ENST00000467460	Transcript	missense_variant	1722/9082	1391/1881	464/626	A/V	gCt/gTt		1		-1	PEX5L	HGNC	HGNC:30024	protein_coding	YES	CCDS3236.1	ENSP00000419975	Q8IYB4		UPI0000049CE2	NM_016559.2	deleterious(0.03)		13/15		PROSITE_profiles:PS50293,hmmpanther:PTHR10130,hmmpanther:PTHR10130:SF1,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	179808399	179808399	G	A	1	0	0	0	0	1	0	0	0	11839	971	34	3		3	PEX5L	3	179808399	Missense_Mutation	SNP	G	11LU016_TP	604621	179808399	18487160	125	181											
ATP11B	0	.	GRCh38	chr3	182873922	182873922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttagtgtgagtttatcatGtggccattttcatagaacca	10	16	9	6	0	2	2	2	1	0	1	2	2	2	2	2	1	1	2	2	1	4	6	novel		11LU016_TP	11LU016_NB	G	G																c.2159G>T	p.Cys720Phe	p.C720F	ENST00000323116	19/30	324	259	65	333	333	0	strelka-varscan-mutect	ATP11B,missense_variant,p.Cys720Phe,ENST00000323116,NM_014616.2;ATP11B,missense_variant,p.Cys521Phe,ENST00000498086,;ATP11B,non_coding_transcript_exon_variant,,ENST00000490303,;ATP11B,upstream_gene_variant,,ENST00000466758,;	T	ENST00000323116	Transcript	missense_variant	2419/7325	2159/3534	720/1177	C/F	tGt/tTt		1		1	ATP11B	HGNC	HGNC:13553	protein_coding	YES	CCDS33896.1	ENSP00000321195	Q9Y2G3		UPI000004124E	NM_014616.2	deleterious(0)		19/30		Gene3D:3.40.50.1000,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF57,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01652																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	2	182873922	182873922	G	T	1	0	0	0	0	1	0	0	0	1272	1377	48	2		2	ATP11B	3	182873922	Missense_Mutation	SNP	G	11LU016_TP	3065523	182873922	15421637	126	182											
MAGEF1	0	.	GRCh38	chr3	184710919	184710919	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagaggtggatgccggcCctagcactggccctggccct	6	6	13	16	1	0	1	0	0	0	1	0	2	0	2	5	5	2	1	5	5	1	1	novel		11LU016_TP	11LU016_NB	C	C																c.903G>T	p.Arg301Ser	p.R301S	ENST00000317897	1/1	59	45	14	47	47	0	strelka-varscan	MAGEF1,missense_variant,p.Arg301Ser,ENST00000317897,NM_022149.4;	A	ENST00000317897	Transcript	missense_variant	1084/1636	903/924	301/307	R/S	agG/agT		1		-1	MAGEF1	HGNC	HGNC:29639	protein_coding	YES	CCDS3269.1	ENSP00000315064	Q9HAY2		UPI0000140198	NM_022149.4	deleterious_low_confidence(0.01)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF61																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	2	184710919	184710919	C	A	1	0	0	0	0	1	0	0	0	9105	622	22	2		2	MAGEF1	3	184710919	Missense_Mutation	SNP	C	11LU016_TP	1836997	184710919	13584640	127	183											
TBCCD1	0	.	GRCh38	chr3	186554562	186554562	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggcaaaagttactgtCtggttcccagagagaataag	15	8	12	6	0	1	2	0	0	1	2	2	3	2	2	1	3	1	3	1	3	6	3	novel		11LU016_TP	11LU016_NB	C	C																c.1236G>T	p.Gln412His	p.Q412H	ENST00000424280	6/8	161	149	12	263	262	1	strelka-varscan-mutect	TBCCD1,missense_variant,p.Gln412His,ENST00000424280,NM_001134415.1;TBCCD1,missense_variant,p.Gln412His,ENST00000338733,NM_018138.4;TBCCD1,missense_variant,p.Gln316His,ENST00000446782,NM_001286749.1;TBCCD1,downstream_gene_variant,,ENST00000413695,;TBCCD1,downstream_gene_variant,,ENST00000430560,;TBCCD1,upstream_gene_variant,,ENST00000479590,;	A	ENST00000424280	Transcript	missense_variant	1716/3058	1236/1674	412/557	Q/H	caG/caT		1		-1	TBCCD1	HGNC	HGNC:25546	protein_coding	YES	CCDS3276.1	ENSP00000411253	Q9NVR7		UPI0000073055	NM_001134415.1	tolerated(0.11)		6/8		Gene3D:2.160.20.70,Pfam_domain:PF07986,PROSITE_profiles:PS51329,hmmpanther:PTHR16052,hmmpanther:PTHR16052:SF0																	MODERATE	1	SNV	5			1										PASS		rs1439973646	.												A	3	1	2	186554562	186554562	C	A	1	0	0	0	0	1	0	0	0	16037	912	32	2		2	TBCCD1	3	186554562	Missense_Mutation	SNP	C	11LU016_TP	1843643	186554562	11740997	128	184											
FETUB	0	.	GRCh38	chr3	186652420	186652420	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcctgacttggatgataAaaattcccaggaaaagggcc	13	10	9	9	0	1	2	0	2	1	0	3	4	3	4	3	3	0	0	3	3	5	4	novel		11LU016_TP	11LU016_NB	A	A																c.938A>T	p.Lys313Ile	p.K313I	ENST00000265029	7/7	126	88	38	137	136	1	strelka-varscan-mutect	FETUB,missense_variant,p.Lys313Ile,ENST00000265029,NM_014375.2;FETUB,missense_variant,p.Lys313Ile,ENST00000450521,;FETUB,missense_variant,p.Lys248Ile,ENST00000382134,NM_001308079.1;FETUB,missense_variant,p.Lys276Ile,ENST00000382136,;FETUB,downstream_gene_variant,,ENST00000431018,;RP11-573D15.8,intron_variant,,ENST00000630864,;RP11-573D15.8,intron_variant,,ENST00000625303,;RP11-573D15.8,intron_variant,,ENST00000629106,;RP11-573D15.8,intron_variant,,ENST00000630315,;RP11-573D15.8,intron_variant,,ENST00000628253,;RP11-573D15.8,intron_variant,,ENST00000630178,;RP11-573D15.8,intron_variant,,ENST00000628505,;RP11-573D15.8,intron_variant,,ENST00000625826,;RP11-573D15.8,intron_variant,,ENST00000626649,;RP11-573D15.8,intron_variant,,ENST00000625741,;RP11-573D15.8,intron_variant,,ENST00000626845,;RP11-573D15.8,intron_variant,,ENST00000629451,;RP11-573D15.8,intron_variant,,ENST00000627469,;RP11-573D15.8,intron_variant,,ENST00000428501,;RP11-573D15.8,intron_variant,,ENST00000628190,;RP11-573D15.8,intron_variant,,ENST00000625386,;RP11-573D15.8,intron_variant,,ENST00000630331,;RP11-573D15.8,intron_variant,,ENST00000626633,;RP11-573D15.8,intron_variant,,ENST00000455926,;RP11-573D15.8,intron_variant,,ENST00000630726,;FETUB,3_prime_UTR_variant,,ENST00000435961,;FETUB,3_prime_UTR_variant,,ENST00000420570,;	T	ENST00000265029	Transcript	missense_variant	1039/1627	938/1149	313/382	K/I	aAa/aTa		1		1	FETUB	HGNC	HGNC:3658	protein_coding	YES	CCDS3279.1	ENSP00000265029	Q9UGM5		UPI00000361F3	NM_014375.2	deleterious(0.01)		7/7		hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	186652420	186652420	A	T	1	0	0	0	0	1	0	0	0	5684	14	1	4		4	FETUB	3	186652420	Missense_Mutation	SNP	A	11LU016_TP	97858	186652420	11643139	129	185											
RUBCN	0	.	GRCh38	chr3	197701820	197701820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcagggctgtcaggctCtggctctttgtcaccaggag	5	10	15	11	0	4	0	2	0	2	0	4	1	4	1	1	5	0	4	1	5	0	1	novel		11LU016_TP	11LU016_NB	C	C																c.615G>T	p.Gln205His	p.Q205H	ENST00000296343	6/20	325	264	61	270	269	1	strelka-varscan-mutect	RUBCN,missense_variant,p.Gln145His,ENST00000273582,NM_001145642.3;RUBCN,missense_variant,p.Gln184His,ENST00000413360,;RUBCN,missense_variant,p.Gln205His,ENST00000296343,NM_014687.2;RUBCN,missense_variant,p.Gln205His,ENST00000449205,;RUBCN,upstream_gene_variant,,ENST00000415452,;RUBCN,downstream_gene_variant,,ENST00000474214,;RUBCN,upstream_gene_variant,,ENST00000447048,;RUBCN,non_coding_transcript_exon_variant,,ENST00000467303,;	A	ENST00000296343	Transcript	missense_variant	615/2919	615/2919	205/972	Q/H	caG/caT		1		-1	RUBCN	HGNC	HGNC:28991	protein_coding	YES	CCDS43195.1	ENSP00000296343	Q92622		UPI00001C1DE4	NM_014687.2	tolerated(0.13)		6/20		hmmpanther:PTHR12326:SF11,hmmpanther:PTHR12326																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	2	197701820	197701820	C	A	1	0	0	0	0	1	0	0	0	13999	912	32	2		2	RUBCN	3	197701820	Missense_Mutation	SNP	C	11LU016_TP	11049400	197701820	593739	130	186											
PIGG	0	.	GRCh38	chr4	533841	533841	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccaacaacattgccacCgtggacatctccgcaggctt	11	8	7	15	2	1	0	0	0	1	0	3	1	2	1	4	2	4	2	4	2	3	2	novel		11LU016_TP	11LU016_NB	C	C																c.2595C>T	p.=	p.T865T	ENST00000453061	12/13	121	112	9	131	131	0	strelka-varscan-mutect	PIGG,synonymous_variant,p.=,ENST00000453061,NM_001127178.2;PIGG,synonymous_variant,p.=,ENST00000310340,NM_017733.4;PIGG,synonymous_variant,p.=,ENST00000504346,NM_001289051.1;PIGG,synonymous_variant,p.=,ENST00000383028,NM_001289052.1;PIGG,downstream_gene_variant,,ENST00000510235,;PIGG,non_coding_transcript_exon_variant,,ENST00000503261,;PIGG,non_coding_transcript_exon_variant,,ENST00000504879,;PIGG,upstream_gene_variant,,ENST00000515237,;PIGG,downstream_gene_variant,,ENST00000508562,;PIGG,upstream_gene_variant,,ENST00000505800,;PIGG,non_coding_transcript_exon_variant,,ENST00000513239,;PIGG,non_coding_transcript_exon_variant,,ENST00000513192,;PIGG,non_coding_transcript_exon_variant,,ENST00000508144,;PIGG,non_coding_transcript_exon_variant,,ENST00000511666,;	T	ENST00000453061	Transcript	synonymous_variant	2701/3218	2595/2952	865/983	T	acC/acT		1		1	PIGG	HGNC	HGNC:25985	protein_coding	YES	CCDS46992.1	ENSP00000415203	Q5H8A4		UPI00004C7A82	NM_001127178.2			12/13		hmmpanther:PTHR23072,hmmpanther:PTHR23072:SF0																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	533841	533841	C	T	1	0	0	0	0	0	0	0	1	11982	639	23	1		1	PIGG	4	533841	Silent	SNP	C	11LU016_TP		533841	189680714	131	187											
ADD1	0	.	GRCh38	chr4	2907805	2907805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaacctgtttgttccattGaacactaacccaaaagaggt	13	11	6	11	0	0	2	0	1	0	1	1	2	1	2	4	1	3	2	4	1	5	5	novel		11LU016_TP	11LU016_NB	G	G																c.1569G>T	p.Leu523Phe	p.L523F	ENST00000264758	11/15	237	211	26	223	223	0	strelka-varscan-mutect	ADD1,missense_variant,p.Leu492Phe,ENST00000355842,NM_001286645.1;ADD1,missense_variant,p.Leu523Phe,ENST00000398125,NM_176801.2;ADD1,missense_variant,p.Leu523Phe,ENST00000264758,NM_014189.3;ADD1,missense_variant,p.Leu492Phe,ENST00000398129,NM_001119.4;ADD1,missense_variant,p.Leu523Phe,ENST00000503455,;ADD1,missense_variant,p.Leu492Phe,ENST00000513328,NM_014190.3;ADD1,missense_variant,p.Leu523Phe,ENST00000398123,;ADD1,missense_variant,p.Leu229Phe,ENST00000514940,;ADD1,3_prime_UTR_variant,,ENST00000446856,;ADD1,upstream_gene_variant,,ENST00000536424,;ADD1,non_coding_transcript_exon_variant,,ENST00000513762,;ADD1,non_coding_transcript_exon_variant,,ENST00000541051,;ADD1,non_coding_transcript_exon_variant,,ENST00000536078,;ADD1,downstream_gene_variant,,ENST00000506157,;ADD1,downstream_gene_variant,,ENST00000503169,;	T	ENST00000264758	Transcript	missense_variant	1757/4045	1569/2307	523/768	L/F	ttG/ttT		1		1	ADD1	HGNC	HGNC:243	protein_coding	YES	CCDS3363.1	ENSP00000264758	P35611		UPI000002A35E	NM_014189.3	deleterious(0)		11/15		hmmpanther:PTHR10672:SF4,hmmpanther:PTHR10672																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	2	2907805	2907805	G	T	1	0	0	0	0	1	0	0	0	348	1281	45	2		2	ADD1	4	2907805	Missense_Mutation	SNP	G	11LU016_TP	2373964	2907805	187306750	132	188											
HTT	0	.	GRCh38	chr4	3173130	3173130	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcaggagaacgacacctcgGggtaacagttgtggcaagaa	14	5	14	8	2	0	2	0	0	0	2	1	4	0	2	1	4	3	4	1	4	4	2	rs775338972		11LU016_TP	11LU016_NB	G	G																c.4165G>T	p.Gly1389Ter	p.G1389*	ENST00000355072	31/67	172	151	21	162	162	0	strelka-varscan-mutect	HTT,stop_gained,p.Gly1389Ter,ENST00000355072,NM_002111.7;HTT,missense_variant,p.Gly112Trp,ENST00000509618,;HTT,splice_region_variant,,ENST00000510626,;	T	ENST00000355072	Transcript	stop_gained,splice_region_variant	4310/13474	4165/9429	1389/3142	G/*	Gga/Tga	rs775338972	1		1	HTT	HGNC	HGNC:4851	protein_coding	YES	CCDS43206.1	ENSP00000347184	P42858		UPI000013D567	NM_002111.7			31/67		hmmpanther:PTHR10170,hmmpanther:PTHR10170:SF10																	HIGH	1	SNV	1			1										PASS		rs775338972	.												T	4	4	2	3173130	3173130	G	T	1	0	0	0	0	0	1	0	0	7353	1246	43	2		2	HTT	4	3173130	Nonsense_Mutation	SNP	G	11LU016_TP	265325	3173130	187041425	133	189											
JAKMIP1	0	.	GRCh38	chr4	6085456	6085456	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaccatgtccccgatcccGggcgggagctctctctttgg	4	10	11	16	3	2	0	0	0	2	0	6	2	5	1	5	3	1	1	5	3	0	1	rs139885716		11LU016_TP	11LU016_NB	G	G																c.798C>A	p.=	p.P266P	ENST00000409021	4/21	227	157	70	260	260	0	strelka-varscan-mutect	JAKMIP1,synonymous_variant,p.=,ENST00000409021,NM_001099433.1;JAKMIP1,synonymous_variant,p.=,ENST00000282924,NM_144720.3;JAKMIP1,synonymous_variant,p.=,ENST00000409371,;JAKMIP1,synonymous_variant,p.=,ENST00000409831,NM_001306133.1;JAKMIP1,synonymous_variant,p.=,ENST00000410077,NM_001306134.1;JAKMIP1,non_coding_transcript_exon_variant,,ENST00000457227,;JAKMIP1,synonymous_variant,p.=,ENST00000473053,;	T	ENST00000409021	Transcript	synonymous_variant	1248/2975	798/2496	266/831	P	ccC/ccA	rs139885716	1		-1	JAKMIP1	HGNC	HGNC:26460	protein_coding	YES	CCDS47005.1	ENSP00000386711	Q96N16		UPI00015734C1	NM_001099433.1			4/21		hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF6																	LOW	1	SNV	1			1										PASS		rs139885716	.												T	2	4	2	6085456	6085456	G	T	1	0	0	0	0	0	0	0	1	7853	1103	39	1		1	JAKMIP1	4	6085456	Silent	SNP	G	11LU016_TP	2912326	6085456	184129099	134	190											
HTRA3	0	.	GRCh38	chr4	8286646	8286646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgatcatcaccaatgccCacgtggtgtccagcaacagt	10	8	9	14	1	2	1	2	1	0	0	3	1	3	1	4	1	3	1	4	1	2	0	novel		11LU016_TP	11LU016_NB	C	C																c.571C>T	p.His191Tyr	p.H191Y	ENST00000307358	3/9	315	231	84	324	324	0	strelka-varscan-mutect	HTRA3,missense_variant,p.His191Tyr,ENST00000307358,NM_053044.4;HTRA3,missense_variant,p.His191Tyr,ENST00000382512,NM_001297559.1;	T	ENST00000307358	Transcript	missense_variant	775/2541	571/1362	191/453	H/Y	Cac/Tac		1		1	HTRA3	HGNC	HGNC:30406	protein_coding	YES	CCDS3400.1	ENSP00000303766	P83110		UPI0000001647	NM_053044.4	deleterious(0.01)		3/9		hmmpanther:PTHR22939:SF14,hmmpanther:PTHR22939,Gene3D:2.40.10.10,Pfam_domain:PF13365,Superfamily_domains:SSF50494,Prints_domain:PR00834																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	8286646	8286646	C	T	1	0	0	0	0	1	0	0	0	7351	594	21	3		3	HTRA3	4	8286646	Missense_Mutation	SNP	C	11LU016_TP	2201190	8286646	181927909	135	191											
USP17L10	0	.	GRCh38	chr4	9211783	9211783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttttacatccagaagaGtgaatgggaaagacacagtg	14	9	10	8	0	1	4	0	1	1	3	2	5	2	5	2	1	1	0	2	1	4	2	rs756141121		11LU016_TP	11LU016_NB	G	G																c.1127G>T	p.Ser376Ile	p.S376I	ENST00000417945	1/1	160	151	9	198	196	2	varscan-mutect	USP17L10,missense_variant,p.Ser376Ile,ENST00000421288,;USP17L10,missense_variant,p.Ser376Ile,ENST00000417945,NM_001256852.1;USP17L11,upstream_gene_variant,,ENST00000613973,;USP17L11,upstream_gene_variant,,ENST00000457736,NM_001256854.1;	T	ENST00000417945	Transcript	missense_variant	1127/1593	1127/1593	376/530	S/I	aGt/aTt	rs756141121	1		1	USP17L10	HGNC	HGNC:44438	protein_coding	YES	CCDS59454.1	ENSP00000403760	C9JJH3		UPI0000185F71	NM_001256852.1	deleterious(0.01)		1/1		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF511,Superfamily_domains:SSF54001																	MODERATE	1	SNV				1										PASS		rs756141121	.												T	3	4	2	9211783	9211783	G	T	1	0	0	0	0	1	0	0	0	17583	1029	36	2		2	USP17L10	4	9211783	Missense_Mutation	SNP	G	11LU016_TP	925137	9211783	181002772	136	192											
CLNK	0	.	GRCh38	chr4	10490534	10490534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacactgtttcctgtggaccCcagttttatctttcccatca	7	15	6	13	0	2	0	1	0	1	0	4	2	4	1	4	1	0	2	4	1	1	4	rs762033179		11LU016_TP	11LU016_NB	C	C																c.1220G>T	p.Gly407Val	p.G407V	ENST00000226951	19/19	284	262	22	239	237	2	strelka-varscan-mutect	CLNK,missense_variant,p.Gly407Val,ENST00000226951,NM_052964.2;CLNK,missense_variant,p.Gly145Val,ENST00000515667,;CLNK,missense_variant,p.Gly407Val,ENST00000442825,;	A	ENST00000226951	Transcript	missense_variant	1460/5599	1220/1287	407/428	G/V	gGg/gTg	rs762033179	1		-1	CLNK	HGNC	HGNC:17438	protein_coding	YES	CCDS47024.1	ENSP00000226951	Q7Z7G1		UPI000004A23A	NM_052964.2	deleterious(0)		19/19		PROSITE_profiles:PS50001,hmmpanther:PTHR14098:SF2,hmmpanther:PTHR14098,Gene3D:3.30.505.10,Superfamily_domains:SSF55550																	MODERATE	1	SNV	1			1										PASS		rs762033179	.												A	3	1	2	10490534	10490534	C	A	1	0	0	0	0	1	0	0	0	3317	623	22	2		2	CLNK	4	10490534	Missense_Mutation	SNP	C	11LU016_TP	1278751	10490534	179724021	137	193											
ADGRL3	0	.	GRCh38	chr4	61733215	61733215	+	Frame_Shift_Del	DEL	G	G	-																															aacaaaacaatggtaaaattGtcattagtcaattgaaccct																								novel		11LU016_TP	11LU016_NB	G	G																c.856delG	p.Val286SerfsTer5	p.V286Sfs*5	ENST00000514591	7/25	256	225	31	300	300	0	sindel-varindel-pindel	ADGRL3,frameshift_variant,p.Val286SerfsTer5,ENST00000512091,NM_001322246.1;ADGRL3,frameshift_variant,p.Val286SerfsTer5,ENST00000514591,NM_015236.4;ADGRL3,frameshift_variant,p.Val354SerfsTer5,ENST00000509896,;ADGRL3,frameshift_variant,p.Val354SerfsTer5,ENST00000511324,;ADGRL3,frameshift_variant,p.Val354SerfsTer5,ENST00000508693,;ADGRL3,frameshift_variant,p.Val354SerfsTer5,ENST00000507164,;ADGRL3,frameshift_variant,p.Val354SerfsTer5,ENST00000506720,;ADGRL3,frameshift_variant,p.Val354SerfsTer5,ENST00000506746,;ADGRL3,frameshift_variant,p.Val354SerfsTer5,ENST00000507625,;ADGRL3,frameshift_variant,p.Val286SerfsTer5,ENST00000506700,;ADGRL3,frameshift_variant,p.Val286SerfsTer5,ENST00000504896,;ADGRL3,frameshift_variant,p.Val286SerfsTer5,ENST00000514157,;ADGRL3,frameshift_variant,p.Val286SerfsTer5,ENST00000508946,;ADGRL3,frameshift_variant,p.Val286SerfsTer5,ENST00000514996,;	-	ENST00000514591	Transcript	frameshift_variant	1185/6297	856/4410	286/1469	V/X	Gtc/tc		1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4			7/25		PROSITE_profiles:PS51132,Pfam_domain:PF02191,SMART_domains:SM00284																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	2	61733215	61733215	G	-	1	0	1	0	1	0	0	0	0	377	1377	48	0		0	ADGRL3	4	61733215	Frame_Shift_Del	DEL	G	11LU016_TP	51242681	61733215	128481340	138	194											
TECRL	0	.	GRCh38	chr4	64314734	64314734	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaagaggaggtatattagCagaggtcctgtgtattcagc	13	11	12	5	0	1	2	1	0	0	2	2	3	2	3	1	3	2	3	1	3	6	6			11LU016_TP	11LU016_NB	C	C																c.465G>T	p.=	p.L155L	ENST00000381210	5/12	138	122	16	177	177	0	strelka-varscan-mutect	TECRL,synonymous_variant,p.=,ENST00000381210,NM_001010874.4;TECRL,synonymous_variant,p.=,ENST00000507440,;TECRL,non_coding_transcript_exon_variant,,ENST00000513125,;TECRL,non_coding_transcript_exon_variant,,ENST00000511356,;	A	ENST00000381210	Transcript	synonymous_variant	576/3573	465/1092	155/363	L	ctG/ctT	COSM347287	1		-1	TECRL	HGNC	HGNC:27365	protein_coding	YES	CCDS33990.1	ENSP00000370607	Q5HYJ1		UPI0000141A54	NM_001010874.4			5/12		hmmpanther:PTHR10556,hmmpanther:PTHR10556:SF27,Transmembrane_helices:TMhelix											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	2	64314734	64314734	C	A	1	0	0	0	0	0	0	0	1	16157	697	25	2		2	TECRL	4	64314734	Silent	SNP	C	11LU016_TP	2581519	64314734	125899821	139	195											
EPHA5	0	.	GRCh38	chr4	65351505	65351505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggcagcaagatctctatGcacatagcccatgtcagaaa	13	9	8	11	0	3	2	1	0	2	2	4	2	3	2	1	1	3	3	1	1	4	2	novel		11LU016_TP	11LU016_NB	G	G																c.2395C>T	p.His799Tyr	p.H799Y	ENST00000622150	14/18	296	266	30	278	278	0	strelka-varscan-mutect	EPHA5,missense_variant,p.His799Tyr,ENST00000622150,NM_001281765.1;EPHA5,missense_variant,p.His777Tyr,ENST00000613740,NM_001281766.1;EPHA5,missense_variant,p.His798Tyr,ENST00000273854,NM_004439.6;EPHA5,missense_variant,p.His799Tyr,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.His635Tyr,ENST00000432638,;EPHA5,missense_variant,p.His776Tyr,ENST00000354839,NM_182472.3;	A	ENST00000622150	Transcript	missense_variant	3148/8421	2395/3117	799/1038	H/Y	Cat/Tat		1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1	deleterious(0)		14/18		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000666,Prints_domain:PR00109,PROSITE_patterns:PS00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	65351505	65351505	G	A	1	0	0	0	0	1	0	0	0	5017	1319	46	3		3	EPHA5	4	65351505	Missense_Mutation	SNP	G	11LU016_TP	1036771	65351505	124863050	140	196											
UGT2A1	0	.	GRCh38	chr4	69647001	69647001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtagtcctgtaggtggtagGagatgaaatttcttattctg	9	16	12	4	0	2	2	0	1	2	1	3	3	3	2	1	3	0	3	1	3	5	6	rs149931914		11LU016_TP	11LU016_NB	G	G																c.644C>A	p.Ser215Tyr	p.S215Y	ENST00000514019	2/7	62	49	13	61	61	0	strelka-varscan-mutect	UGT2A1,missense_variant,p.Ser215Tyr,ENST00000503640,NM_006798.4;UGT2A1,missense_variant,p.Ser215Tyr,ENST00000512704,NM_001301239.1;UGT2A1,missense_variant,p.Ser215Tyr,ENST00000514019,NM_001252274.2;UGT2A1,missense_variant,p.Ser215Tyr,ENST00000286604,NM_001252275.2;UGT2A1,downstream_gene_variant,,ENST00000505512,;	T	ENST00000514019	Transcript	missense_variant	760/2376	644/2082	215/693	S/Y	tCc/tAc	rs149931914	1		-1	UGT2A1	HGNC	HGNC:12542	protein_coding	YES	CCDS58902.1	ENSP00000425497		A0A140T9Z0	UPI0004620AF5	NM_001252274.2	tolerated(1)		2/7		Pfam_domain:PF00201,Superfamily_domains:SSF53756																	MODERATE	1	SNV	2			1										PASS		rs149931914	.												T	3	4	2	69647001	69647001	G	T	1	0	0	0	0	1	0	0	0	17478	1174	41	2		2	UGT2A1	4	69647001	Missense_Mutation	SNP	G	11LU016_TP	4295496	69647001	120567554	141	197											
NPFFR2	0	.	GRCh38	chr4	72147320	72147320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctcacacaggcaggaaGaaccaggagcagtggcacgt	12	5	13	11	1	1	1	1	0	0	1	2	3	2	3	2	4	2	4	2	4	2	1	novel		11LU016_TP	11LU016_NB	G	G																c.1077G>T	p.Lys359Asn	p.K359N	ENST00000308744	4/4	239	165	74	263	263	0	strelka-varscan-mutect	NPFFR2,missense_variant,p.Lys359Asn,ENST00000308744,NM_004885.2;NPFFR2,missense_variant,p.Lys260Asn,ENST00000395999,NM_001144756.1;NPFFR2,missense_variant,p.Lys257Asn,ENST00000358749,NM_053036.2;NPFFR2,3_prime_UTR_variant,,ENST00000344413,;NPFFR2,non_coding_transcript_exon_variant,,ENST00000506359,;	T	ENST00000308744	Transcript	missense_variant	1175/1922	1077/1569	359/522	K/N	aaG/aaT		1		1	NPFFR2	HGNC	HGNC:4525	protein_coding	YES	CCDS3551.1	ENSP00000307822	Q9Y5X5		UPI000012FFBD	NM_004885.2	tolerated(0.45)		4/4		PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF3,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		rs898931282	.												T	3	4	2	72147320	72147320	G	T	1	0	0	0	0	1	0	0	0	10626	933	33	2		2	NPFFR2	4	72147320	Missense_Mutation	SNP	G	11LU016_TP	2500319	72147320	118067235	142	198											
ADAMTS3	0	.	GRCh38	chr4	72548793	72548793	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacctctttttgtgactCgcagaaagagtatgggagag	10	11	13	7	1	1	5	0	2	1	3	2	6	1	5	1	1	0	3	1	1	2	3	rs777768285		11LU016_TP	11LU016_NB	C	C																c.189G>T	p.=	p.A63A	ENST00000286657	3/22	261	226	35	189	189	0	strelka-varscan-mutect	ADAMTS3,synonymous_variant,p.=,ENST00000286657,;ADAMTS3,synonymous_variant,p.=,ENST00000622135,NM_014243.2;ADAMTS3,non_coding_transcript_exon_variant,,ENST00000505193,;	A	ENST00000286657	Transcript	synonymous_variant	813/6409	189/3618	63/1205	A	gcG/gcT	rs777768285	1		-1	ADAMTS3	HGNC	HGNC:219	protein_coding	YES	CCDS3553.1	ENSP00000286657	O15072		UPI00001AEAEA				3/22		Pfam_domain:PF01562																	LOW	1	SNV	1			1										PASS		rs777768285	.												A	2	1	2	72548793	72548793	C	A	1	0	0	0	0	0	0	0	1	311	871	31	1		1	ADAMTS3	4	72548793	Silent	SNP	C	11LU016_TP	401473	72548793	117665762	143	199											
CENPE	0	.	GRCh38	chr4	103159299	103159299	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttctgatgttattataTggagctcttcagatttgtct	7	21	7	6	0	4	2	1	1	3	1	4	3	4	3	0	1	1	2	0	1	3	7	rs774151339		11LU016_TP	11LU016_NB	T	T																c.2312A>T	p.His771Leu	p.H771L	ENST00000265148	22/49	37	33	4	35	35	0	strelka-mutect	CENPE,missense_variant,p.His771Leu,ENST00000265148,NM_001813.2;CENPE,missense_variant,p.His771Leu,ENST00000611174,;CENPE,missense_variant,p.His746Leu,ENST00000380026,NM_001286734.1;CENPE,missense_variant,p.His771Leu,ENST00000503705,;	A	ENST00000265148	Transcript	missense_variant	2402/8612	2312/8106	771/2701	H/L	cAt/cTt	rs774151339	1		-1	CENPE	HGNC	HGNC:1856	protein_coding	YES	CCDS34042.1	ENSP00000265148	Q02224		UPI000020B28A	NM_001813.2	tolerated(0.64)		22/49		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF459,hmmpanther:PTHR24115																	MODERATE	1	SNV	2			1										PASS		rs774151339	.												A	3	1	2	103159299	103159299	T	A	1	0	0	0	0	1	0	0	0	2938	1464	51	4		4	CENPE	4	103159299	Missense_Mutation	SNP	T	11LU016_TP	30610506	103159299	87055256	144	200											
EGF	0	.	GRCh38	chr4	109969019	109969019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatagagagagctaatatgGatggttcccagcgagaaagg	14	7	15	5	1	0	3	0	0	0	3	1	7	1	5	1	4	2	2	1	4	4	4	novel		11LU016_TP	11LU016_NB	G	G																c.1624G>T	p.Asp542Tyr	p.D542Y	ENST00000265171	11/24	430	386	44	419	419	0	strelka-varscan-mutect	EGF,missense_variant,p.Asp542Tyr,ENST00000265171,NM_001963.4;EGF,missense_variant,p.Asp500Tyr,ENST00000509793,NM_001178131.1;EGF,missense_variant,p.Asp542Tyr,ENST00000503392,NM_001178130.1;EGF,non_coding_transcript_exon_variant,,ENST00000502579,;	T	ENST00000265171	Transcript	missense_variant	2069/4880	1624/3624	542/1207	D/Y	Gat/Tat		1		1	EGF	HGNC	HGNC:3229	protein_coding	YES	CCDS3689.1	ENSP00000265171	P01133		UPI000013D5C8	NM_001963.4	deleterious(0)		11/24		Gene3D:2.120.10.30,Pfam_domain:PF00058,PIRSF_domain:PIRSF001778,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF200,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	109969019	109969019	G	T	1	0	0	0	0	1	0	0	0	4798	1174	41	2		2	EGF	4	109969019	Missense_Mutation	SNP	G	11LU016_TP	6809720	109969019	80245536	145	201											
ANK2	0	.	GRCh38	chr4	113359225	113359225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggacatctttgacacaaGgcccatttgggatgagtcta	11	11	11	8	0	2	3	0	3	2	0	2	5	2	5	1	3	0	0	1	3	2	3	novel		11LU016_TP	11LU016_NB	G	G																c.10607G>A	p.Arg3536Lys	p.R3536K	ENST00000357077	38/46	94	85	9	102	102	0	strelka-varscan-mutect	ANK2,missense_variant,p.Arg3536Lys,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Arg3503Lys,ENST00000264366,;ANK2,missense_variant,p.Arg546Lys,ENST00000505342,;ANK2,3_prime_UTR_variant,,ENST00000612754,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000508007,;	A	ENST00000357077	Transcript	missense_variant	10660/14196	10607/11874	3536/3957	R/K	aGg/aAg		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	tolerated(0.06)		38/46		hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	113359225	113359225	G	A	1	0	0	0	0	1	0	0	0	721	1000	35	3		3	ANK2	4	113359225	Missense_Mutation	SNP	G	11LU016_TP	3390206	113359225	76855330	146	202											
TRPC3	0	.	GRCh38	chr4	121932479	121932479	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatagtcgtgcggccgcTcgatcctggcacccttcatc	8	9	10	14	4	1	1	1	0	0	1	5	2	2	1	3	2	1	2	3	2	2	2	novel		11LU016_TP	11LU016_NB	T	T																c.779A>T	p.Glu260Val	p.E260V	ENST00000379645	2/12	298	271	27	237	237	0	strelka-varscan-mutect	TRPC3,missense_variant,p.Glu187Val,ENST00000264811,NM_003305.2;TRPC3,missense_variant,p.Glu260Val,ENST00000379645,NM_001130698.1;TRPC3,missense_variant,p.Glu187Val,ENST00000513531,;TRPC3,downstream_gene_variant,,ENST00000502968,;TRPC3,missense_variant,p.Glu187Val,ENST00000506449,;	A	ENST00000379645	Transcript	missense_variant	853/3548	779/2766	260/921	E/V	gAg/gTg		1		-1	TRPC3	HGNC	HGNC:12335	protein_coding	YES	CCDS47130.1	ENSP00000368966	Q13507		UPI00004C6F61	NM_001130698.1	tolerated(0.07)		2/12		hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	121932479	121932479	T	A	1	0	0	0	0	1	0	0	0	17084	1551	54	4		4	TRPC3	4	121932479	Missense_Mutation	SNP	T	11LU016_TP	8573254	121932479	68282076	147	203											
SMARCA5	0	.	GRCh38	chr4	143540487	143540487	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagactggattcaatagtcaTtcaacaaggtaagccatgga	15	9	9	8	0	3	1	3	0	0	1	3	3	3	3	1	3	2	1	1	3	5	4	novel		11LU016_TP	11LU016_NB	T	T																c.1895T>G	p.Ile632Ser	p.I632S	ENST00000283131	14/24	101	77	24	67	67	0	strelka-varscan-mutect	SMARCA5,missense_variant,p.Ile632Ser,ENST00000283131,NM_003601.3;SMARCA5,upstream_gene_variant,,ENST00000515531,;	G	ENST00000283131	Transcript	missense_variant	2357/7923	1895/3159	632/1052	I/S	aTt/aGt		1		1	SMARCA5	HGNC	HGNC:11101	protein_coding	YES	CCDS3761.1	ENSP00000283131	O60264		UPI000006E693	NM_003601.3	deleterious(0)		14/24		PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF691,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	143540487	143540487	T	G	1	0	0	0	0	1	0	0	0	15064	1493	52	5		5	SMARCA5	4	143540487	Missense_Mutation	SNP	T	11LU016_TP	21608008	143540487	46674068	148	204											
FREM3	0	.	GRCh38	chr4	143699833	143699833	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggaccagcacacccgcGgacccagcgtcttggccctc	6	5	11	19	5	1	0	0	0	1	0	3	2	1	2	4	3	2	1	4	3	0	1	novel		11LU016_TP	11LU016_NB	G	G																c.843C>A	p.=	p.S281S	ENST00000329798	1/8	148	138	10	126	126	0	strelka-varscan-mutect	FREM3,synonymous_variant,p.=,ENST00000329798,NM_001168235.1;RP13-578N3.3,upstream_gene_variant,,ENST00000499587,;	T	ENST00000329798	Transcript	synonymous_variant	843/6729	843/6420	281/2139	S	tcC/tcA		1		-1	FREM3	HGNC	HGNC:25172	protein_coding	YES	CCDS54808.1	ENSP00000332886	P0C091		UPI0000D615C2	NM_001168235.1			1/8		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF31																	LOW		SNV	5			1										PASS		rs1271605163	.												T	2	4	2	143699833	143699833	G	T	1	0	0	0	0	0	0	0	1	5913	1103	39	1		1	FREM3	4	143699833	Silent	SNP	G	11LU016_TP	159346	143699833	46514722	149	205											
LRBA	0	.	GRCh38	chr4	150828448	150828448	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcacctcgctgattgcatCtgggcctgcactgacaccag	8	9	10	14	1	1	2	0	2	1	0	2	2	1	2	3	1	3	4	3	1	1	2	novel		11LU016_TP	11LU016_NB	C	C																c.4903G>T	p.Asp1635Tyr	p.D1635Y	ENST00000357115	30/58	263	229	34	283	283	0	strelka-varscan-mutect	LRBA,missense_variant,p.Asp1635Tyr,ENST00000510413,NM_001199282.2;LRBA,missense_variant,p.Asp1635Tyr,ENST00000357115,NM_006726.4;LRBA,missense_variant,p.Asp1635Tyr,ENST00000507224,;LRBA,missense_variant,p.Asp288Tyr,ENST00000509835,;	A	ENST00000357115	Transcript	missense_variant	5147/9899	4903/8592	1635/2863	D/Y	Gat/Tat		1		-1	LRBA	HGNC	HGNC:1742	protein_coding	YES	CCDS3773.1	ENSP00000349629	P50851		UPI000013E35C	NM_006726.4	deleterious(0)		30/58		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	150828448	150828448	C	A	1	0	0	0	0	1	0	0	0	8825	913	32	2		2	LRBA	4	150828448	Missense_Mutation	SNP	C	11LU016_TP	7128615	150828448	39386107	150	206											
NPY2R	0	.	GRCh38	chr4	155214547	155214547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactttgagattgtggcctGtactgaaaagtggcctggcg	8	11	15	7	1	0	2	0	2	0	1	0	4	0	3	2	4	1	1	2	4	3	3			11LU016_TP	11LU016_NB	G	G																c.608G>T	p.Cys203Phe	p.C203F	ENST00000329476	2/2	296	271	25	240	240	0	strelka-varscan-mutect	NPY2R,missense_variant,p.Cys203Phe,ENST00000329476,NM_000910.3;NPY2R,missense_variant,p.Cys203Phe,ENST00000506608,;AC097467.2,intron_variant,,ENST00000630664,;	T	ENST00000329476	Transcript	missense_variant	1097/3626	608/1146	203/381	C/F	tGt/tTt	COSM5666029	1		1	NPY2R	HGNC	HGNC:7957	protein_coding	YES	CCDS3791.1	ENSP00000332591	P49146		UPI000003B342	NM_000910.3	deleterious(0)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF42,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01014											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	2	155214547	155214547	G	T	1	0	0	0	0	1	0	0	0	10664	1377	48	2		2	NPY2R	4	155214547	Missense_Mutation	SNP	G	11LU016_TP	4386099	155214547	35000008	151	207											
FSTL5	0	.	GRCh38	chr4	161538177	161538177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatacatacgggtctttctaGcagagtcttccacaaaaaga	14	11	7	9	1	3	2	0	0	3	2	4	2	4	2	1	1	3	1	1	1	6	6	novel		11LU016_TP	11LU016_NB	G	G																c.1301C>A	p.Ala434Asp	p.A434D	ENST00000306100	10/16	137	108	29	103	103	0	strelka-varscan-mutect	FSTL5,missense_variant,p.Ala434Asp,ENST00000306100,NM_020116.4;FSTL5,missense_variant,p.Ala433Asp,ENST00000379164,NM_001128427.2;FSTL5,missense_variant,p.Ala433Asp,ENST00000427802,NM_001128428.2;FSTL5,downstream_gene_variant,,ENST00000511170,;	T	ENST00000306100	Transcript	missense_variant	1738/4831	1301/2544	434/847	A/D	gCt/gAt		1		-1	FSTL5	HGNC	HGNC:21386	protein_coding	YES	CCDS3802.1	ENSP00000305334	Q8N475		UPI000020B66B	NM_020116.4	deleterious(0)		10/16		hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF44																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	161538177	161538177	G	T	1	0	0	0	0	1	0	0	0	5954	971	34	2		2	FSTL5	4	161538177	Missense_Mutation	SNP	G	11LU016_TP	6323630	161538177	28676378	152	208											
TENM3	0	.	GRCh38	chr4	182754856	182754856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagggaatatccggatccggGctgtgtcaaagaataagcct	12	9	12	8	2	1	1	1	0	0	1	3	3	3	3	3	3	1	1	3	3	6	3	novel		11LU016_TP	11LU016_NB	G	G																c.4489G>T	p.Ala1497Ser	p.A1497S	ENST00000511685	22/28	283	263	20	289	287	2	strelka-varscan-mutect	TENM3,missense_variant,p.Ala1497Ser,ENST00000511685,NM_001080477.2;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;	T	ENST00000511685	Transcript	missense_variant	4612/10896	4489/8100	1497/2699	A/S	Gct/Tct		1		1	TENM3	HGNC	HGNC:29944	protein_coding	YES	CCDS47165.1	ENSP00000424226	Q9P273	A0A140VJW8	UPI00006C0820	NM_001080477.2	tolerated(0.69)		22/28		Gene3D:2.120.10.30,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,Superfamily_domains:SSF101898,Superfamily_domains:SSF50978																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	2	182754856	182754856	G	T	1	0	0	0	0	1	0	0	0	16173	1203	42	2		2	TENM3	4	182754856	Missense_Mutation	SNP	G	11LU016_TP	21216679	182754856	7459699	153	209											
FAM149A	0	.	GRCh38	chr4	186167187	186167187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatttttcttccagcagtcgGatacgcctcgaaaaagttca	11	13	7	10	3	2	0	1	0	1	0	5	2	3	1	2	1	2	2	2	1	4	6	novel		11LU016_TP	11LU016_NB	G	G																c.1300G>T	p.Asp434Tyr	p.D434Y	ENST00000227065	13/14	184	158	26	176	176	0	strelka-varscan-mutect	FAM149A,missense_variant,p.Asp725Tyr,ENST00000356371,;FAM149A,missense_variant,p.Asp434Tyr,ENST00000227065,NM_015398.2,NM_001006655.2;FAM149A,missense_variant,p.Asp434Tyr,ENST00000514153,;FAM149A,missense_variant,p.Asp434Tyr,ENST00000503432,;FAM149A,missense_variant,p.Asp434Tyr,ENST00000502970,;FAM149A,missense_variant,p.Asp112Tyr,ENST00000510843,;FAM149A,missense_variant,p.Asp111Tyr,ENST00000512271,;FAM149A,3_prime_UTR_variant,,ENST00000389354,;FAM149A,upstream_gene_variant,,ENST00000502894,;FAM149A,non_coding_transcript_exon_variant,,ENST00000515078,;FAM149A,non_coding_transcript_exon_variant,,ENST00000514956,;ORAOV1P1,downstream_gene_variant,,ENST00000503108,;	T	ENST00000227065	Transcript	missense_variant	1879/2708	1300/1449	434/482	D/Y	Gat/Tat		1		1	FAM149A	HGNC	HGNC:24527	protein_coding	YES	CCDS34117.1	ENSP00000227065	A5PLN7		UPI00001C1E1F	NM_015398.2,NM_001006655.2	deleterious(0)		13/14		hmmpanther:PTHR31997,hmmpanther:PTHR31997:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	186167187	186167187	G	T	1	0	0	0	0	1	0	0	0	5304	1174	41	2		2	FAM149A	4	186167187	Missense_Mutation	SNP	G	11LU016_TP	3412331	186167187	4047368	154	210											
FAT1	0	.	GRCh38	chr4	186618116	186618116	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaattactctacttccccCtggcaggttttcaacaatga	10	13	6	12	0	2	2	1	2	1	0	3	2	3	2	2	2	3	2	2	2	5	5	novel		11LU016_TP	11LU016_NB	C	C																c.8470G>T	p.Gly2824Trp	p.G2824W	ENST00000441802	10/27	157	133	24	198	198	0	strelka-varscan-mutect	FAT1,missense_variant,p.Gly2824Trp,ENST00000441802,NM_005245.3;FAT1,missense_variant,p.Gly2826Trp,ENST00000614102,;	A	ENST00000441802	Transcript	missense_variant	8680/14786	8470/13767	2824/4588	G/W	Ggg/Tgg		1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3	deleterious(0.03)		10/27		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	2	186618116	186618116	C	A	1	0	0	0	0	1	0	0	0	5549	681	24	2		2	FAT1	4	186618116	Missense_Mutation	SNP	C	11LU016_TP	450929	186618116	3596439	155	211											
SLC12A7	0	.	GRCh38	chr5	1076774	1076774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggactgtcagcagcagcgcCcacgtgggctccccgttggc	6	6	14	15	3	1	0	1	0	0	0	2	1	2	1	3	3	3	4	3	3	0	1	novel		11LU016_TP	11LU016_NB	C	C																c.1668G>T	p.Trp556Cys	p.W556C	ENST00000264930	13/24	209	176	33	224	223	1	strelka-varscan-mutect	SLC12A7,missense_variant,p.Trp556Cys,ENST00000264930,NM_006598.2;SLC12A7,missense_variant,p.Trp457Cys,ENST00000634447,;SLC12A7,upstream_gene_variant,,ENST00000513223,;SLC12A7,missense_variant,p.Trp3Cys,ENST00000504576,;SLC12A7,downstream_gene_variant,,ENST00000510943,;	A	ENST00000264930	Transcript	missense_variant	1712/5280	1668/3252	556/1083	W/C	tgG/tgT		1		-1	SLC12A7	HGNC	HGNC:10915	protein_coding	YES	CCDS34129.1	ENSP00000264930	Q9Y666		UPI0000141815	NM_006598.2	deleterious(0.02)		13/24		Pfam_domain:PF00324,Prints_domain:PR01081,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF47,TIGRFAM_domain:TIGR00930,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	1076774	1076774	C	A	1	0	0	0	0	1	0	0	0	14653	624	22	2		2	SLC12A7	5	1076774	Missense_Mutation	SNP	C	11LU016_TP		1076774	180461485	156	212											
ADCY2	0	.	GRCh38	chr5	7766703	7766703	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttttcctgagtgactCagaggaaacaatccctccaa	12	10	8	11	0	1	3	1	2	0	1	4	4	4	4	3	1	1	2	3	1	3	2	novel		11LU016_TP	11LU016_NB	C	C																c.2111C>A	p.Ser704Ter	p.S704*	ENST00000338316	17/25	130	106	24	247	245	2	strelka-varscan-mutect	ADCY2,stop_gained,p.Ser704Ter,ENST00000338316,NM_020546.2;	A	ENST00000338316	Transcript	stop_gained	2200/6575	2111/3276	704/1091	S/*	tCa/tAa		1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2			17/25		PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	2	7766703	7766703	C	A	1	0	0	0	0	0	1	0	0	338	838	29	2		2	ADCY2	5	7766703	Nonsense_Mutation	SNP	C	11LU016_TP	6689929	7766703	173771556	157	213											
DNAH5	0	.	GRCh38	chr5	13735837	13735837	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggctaaggaaaggtcaaAtaagcccagaaactggcgaa	16	5	11	9	1	1	1	1	0	0	1	1	3	1	2	2	4	2	1	2	4	6	2	novel		11LU016_TP	11LU016_NB	A	A																c.11551T>C	p.Phe3851Leu	p.F3851L	ENST00000265104	67/79	616	487	129	461	461	0	strelka-varscan-mutect	DNAH5,missense_variant,p.Phe3851Leu,ENST00000265104,NM_001369.2;	G	ENST00000265104	Transcript	missense_variant	11656/15633	11551/13875	3851/4624	F/L	Ttt/Ctt		1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2	deleterious(0)		67/79		hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	13735837	13735837	A	G	1	0	0	0	0	1	0	0	0	4419	101	4	5		5	DNAH5	5	13735837	Missense_Mutation	SNP	A	11LU016_TP	5969134	13735837	167802422	158	214											
ADAMTS12	0	.	GRCh38	chr5	33561033	33561033	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcctgataagttaccttgctCcagtttcccactttccagcc	7	13	6	15	0	0	1	0	1	0	0	3	1	3	1	6	0	3	3	6	0	2	5			11LU016_TP	11LU016_NB	C	C																c.4119G>C	p.Trp1373Cys	p.W1373C	ENST00000504830	20/24	165	119	46	128	128	0	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Trp1373Cys,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Trp1288Cys,ENST00000352040,;	G	ENST00000504830	Transcript	missense_variant	4455/8774	4119/4785	1373/1594	W/C	tgG/tgC	COSM3615474	1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	deleterious(0)		20/24		Gene3D:2.20.100.10,Pfam_domain:PF00090,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,SMART_domains:SM00209,Superfamily_domains:SSF82895											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	2	33561033	33561033	C	G	1	0	0	0	0	1	0	0	0	301	856	30	4		4	ADAMTS12	5	33561033	Missense_Mutation	SNP	C	11LU016_TP	19825196	33561033	147977226	159	215											
ADAMTS12	0	.	GRCh38	chr5	33658278	33658278	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctgacacattcctgaaaGgtgagacaggcccagggtct	11	7	13	10	0	1	3	0	3	1	1	2	4	2	3	2	4	0	1	2	4	1	1	rs770463039		11LU016_TP	11LU016_NB	G	G																c.1096C>G	p.Leu366Val	p.L366V	ENST00000504830	7/24	279	242	37	217	217	0	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Leu366Val,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Leu366Val,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	C	ENST00000504830	Transcript	missense_variant	1432/8774	1096/4785	366/1594	L/V	Ctt/Gtt	rs770463039	1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	tolerated(0.69)		7/24		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		rs770463039	.												C	3	2	2	33658278	33658278	G	C	1	0	0	0	0	1	0	0	0	301	1000	35	4		4	ADAMTS12	5	33658278	Missense_Mutation	SNP	G	11LU016_TP	97245	33658278	147879981	160	216											
CAPSL	0	.	GRCh38	chr5	35910512	35910512	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttaaaatcaagggttcGattattatcgtcatccataa	13	16	5	7	2	3	0	2	0	1	0	6	1	4	0	1	1	0	1	1	1	6	7	rs202156612		11LU016_TP	11LU016_NB	G	G																c.169C>A	p.=	p.R57R	ENST00000397367	3/5	115	96	19	66	66	0	strelka-varscan-mutect	CAPSL,synonymous_variant,p.=,ENST00000397367,NM_144647.3;CAPSL,synonymous_variant,p.=,ENST00000397366,NM_001042625.1;CAPSL,synonymous_variant,p.=,ENST00000513623,;CAPSL,synonymous_variant,p.=,ENST00000514524,;	T	ENST00000397367	Transcript	synonymous_variant	296/1004	169/627	57/208	R	Cga/Aga	rs202156612,COSM266185,COSM5102613	1		-1	CAPSL	HGNC	HGNC:28375	protein_coding	YES	CCDS3912.2	ENSP00000380524	Q8WWF8		UPI0000149B20	NM_144647.3			3/5		Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_patterns:PS00018,PROSITE_profiles:PS50222,hmmpanther:PTHR10891,hmmpanther:PTHR10891:SF551,SMART_domains:SM00054,Superfamily_domains:SSF47473											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs747567733	.												T	2	4	2	35910512	35910512	G	T	1	0	0	0	0	0	0	0	1	2334	1066	37	1		1	CAPSL	5	35910512	Silent	SNP	G	11LU016_TP	2252234	35910512	145627747	161	217											
VCAN	0	.	GRCh38	chr5	83519354	83519354	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattatttttctagctaaaGaggctacaaccatcgatttg	14	14	6	7	1	1	1	0	0	1	1	2	2	1	1	1	1	3	2	1	1	7	7	novel		11LU016_TP	11LU016_NB	G	G																c.1048G>T	p.Glu350Ter	p.E350*	ENST00000265077	7/15	87	69	18	101	101	0	strelka-varscan	VCAN,stop_gained,p.Glu350Ter,ENST00000265077,NM_004385.4;VCAN,stop_gained,p.Glu350Ter,ENST00000342785,NM_001164098.1;VCAN,stop_gained,p.Glu302Ter,ENST00000512590,;VCAN,intron_variant,,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,intron_variant,,ENST00000515397,;	T	ENST00000265077	Transcript	stop_gained	1613/12625	1048/10191	350/3396	E/*	Gag/Tag		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4			7/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6,Gene3D:3.10.100.10,Superfamily_domains:SSF56436																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	2	83519354	83519354	G	T	1	0	0	0	0	0	1	0	0	17683	956	33	2		2	VCAN	5	83519354	Nonsense_Mutation	SNP	G	11LU016_TP	47608842	83519354	98018905	162	218											
RASA1	0	.	GRCh38	chr5	87372193	87372193	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catccaataaacgccttcgtCaggtgaagcttaattttctt	11	14	6	10	2	2	1	1	1	1	0	4	1	3	1	2	1	2	1	2	1	5	6	novel		11LU016_TP	11LU016_NB	C	C																c.1774C>G	p.Gln592Glu	p.Q592E	ENST00000274376	13/25	227	186	41	256	256	0	strelka-varscan	RASA1,missense_variant,p.Gln415Glu,ENST00000456692,NM_022650.2;RASA1,missense_variant,p.Gln592Glu,ENST00000274376,NM_002890.2;RASA1,missense_variant,p.Gln425Glu,ENST00000512763,;RASA1,missense_variant,p.Gln426Glu,ENST00000506290,;CTC-428H11.2,downstream_gene_variant,,ENST00000607486,;RASA1,splice_region_variant,,ENST00000515800,;RASA1,downstream_gene_variant,,ENST00000509953,;	G	ENST00000274376	Transcript	missense_variant,splice_region_variant	2338/3752	1774/3144	592/1047	Q/E	Cag/Gag		1		1	RASA1	HGNC	HGNC:9871	protein_coding	YES	CCDS34200.1	ENSP00000274376	P20936		UPI00001351F3	NM_002890.2	tolerated(0.65)		13/25		hmmpanther:PTHR10194:SF19,hmmpanther:PTHR10194,Gene3D:2.60.40.150																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	87372193	87372193	C	G	1	0	0	0	0	1	0	0	0	13219	840	29	4		4	RASA1	5	87372193	Missense_Mutation	SNP	C	11LU016_TP	3852839	87372193	94166066	163	219											
SLC27A6	0	.	GRCh38	chr5	129029625	129029625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattattttaaaaccaaataCatctttagatttggaaaaag	18	15	4	4	0	1	1	0	0	1	1	1	2	1	2	1	1	2	0	1	1	9	8	novel		11LU016_TP	11LU016_NB	C	C																c.1601C>A	p.Thr534Lys	p.T534K	ENST00000262462	9/10	34	25	9	87	86	1	strelka-varscan	SLC27A6,missense_variant,p.Thr534Lys,ENST00000262462,;SLC27A6,missense_variant,p.Thr534Lys,ENST00000395266,NM_014031.3,NM_001017372.1;SLC27A6,missense_variant,p.Thr534Lys,ENST00000506176,;	A	ENST00000262462	Transcript	missense_variant	2611/3219	1601/1860	534/619	T/K	aCa/aAa		1		1	SLC27A6	HGNC	HGNC:11000	protein_coding	YES	CCDS4145.1	ENSP00000262462	Q9Y2P4		UPI0000038E83		tolerated(0.47)		9/10		hmmpanther:PTHR24096:SF98,hmmpanther:PTHR24096,Gene3D:3.30.300.30,Pfam_domain:PF13193,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	129029625	129029625	C	A	1	0	0	0	0	1	0	0	0	14800	478	17	2		2	SLC27A6	5	129029625	Missense_Mutation	SNP	C	11LU016_TP	41657432	129029625	52508634	164	220											
TRPC7	0	.	GRCh38	chr5	136274727	136274727	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagggaggcctatggaGactccaaagacagccaggaa	17	3	13	8	0	0	3	0	0	0	3	1	6	1	5	3	4	1	0	3	4	5	1	novel		11LU016_TP	11LU016_NB	G	G																c.1074C>A	p.=	p.V358V	ENST00000513104	4/12	198	185	13	206	206	0	strelka-varscan	TRPC7,synonymous_variant,p.=,ENST00000513104,NM_020389.2;TRPC7,synonymous_variant,p.=,ENST00000378459,NM_001167577.1;TRPC7,intron_variant,,ENST00000502753,;TRPC7,intron_variant,,ENST00000352189,NM_001167576.1;TRPC7,synonymous_variant,p.=,ENST00000503275,;TRPC7,intron_variant,,ENST00000514963,;	T	ENST00000513104	Transcript	synonymous_variant	1357/2987	1074/2589	358/862	V	gtC/gtA		1		-1	TRPC7	HGNC	HGNC:20754	protein_coding	YES	CCDS47267.2	ENSP00000426070	Q9HCX4		UPI000004F27A	NM_020389.2			4/12		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9,TIGRFAM_domain:TIGR00870,Transmembrane_helices:TMhelix																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	2	136274727	136274727	G	T	1	0	0	0	0	0	0	0	1	17090	929	33	2		2	TRPC7	5	136274727	Silent	SNP	G	11LU016_TP	7245102	136274727	45263532	165	221											
FAM196B	0	.	GRCh38	chr5	169883691	169883691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaagatggtgcctggttgCttgagtcttccccatcacag	7	11	13	10	0	2	2	1	1	1	1	3	3	3	3	3	3	2	2	3	3	1	3	novel		11LU016_TP	11LU016_NB	C	C																c.208G>T	p.Ala70Ser	p.A70S	ENST00000377365	2/4	51	46	5	55	55	0	strelka-varscan	FAM196B,missense_variant,p.Ala70Ser,ENST00000377365,NM_001129891.1;DOCK2,intron_variant,,ENST00000256935,NM_004946.2;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;	A	ENST00000377365	Transcript	missense_variant	1590/2999	208/1608	70/535	A/S	Gca/Tca		1		-1	FAM196B	HGNC	HGNC:37271	protein_coding	YES	CCDS47336.1	ENSP00000366582	A6NMK8		UPI0000480500	NM_001129891.1	tolerated(0.08)		2/4		Pfam_domain:PF15265,hmmpanther:PTHR28682,hmmpanther:PTHR28682:SF2																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	2	169883691	169883691	C	A	1	0	0	0	0	1	0	0	0	5374	797	28	2		2	FAM196B	5	169883691	Missense_Mutation	SNP	C	11LU016_TP	33608964	169883691	11654568	166	222											
HRH2	0	.	GRCh38	chr5	175683978	175683978	+	Frame_Shift_Del	DEL	C	C	-																															ccttcatcatctgctggtttCcctacttcaccgcgtttgtg																								novel		11LU016_TP	11LU016_NB	C	C																c.747delC	p.Tyr250ThrfsTer10	p.Y250Tfs*10	ENST00000377291	2/3	319	284	35	393	392	1	sindel-varindel-pindel	HRH2,frameshift_variant,p.Tyr250ThrfsTer10,ENST00000636584,;HRH2,frameshift_variant,p.Tyr250ThrfsTer10,ENST00000377291,NM_001131055.1;HRH2,frameshift_variant,p.Tyr250ThrfsTer10,ENST00000231683,NM_022304.2;HRH2,frameshift_variant,p.Tyr250ThrfsTer10,ENST00000624694,;	-	ENST00000377291	Transcript	frameshift_variant	1396/2561	745/1194	249/397	P/X	Ccc/cc		1		1	HRH2	HGNC	HGNC:5183	protein_coding	YES	CCDS47344.1	ENSP00000366506	P25021		UPI00001B2326	NM_001131055.1			2/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF280,hmmpanther:PTHR24249,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	2	175683978	175683978	C	-	1	0	1	0	1	0	0	0	0	7251	855	30	0		0	HRH2	5	175683978	Frame_Shift_Del	DEL	C	11LU016_TP	5800287	175683978	5854281	167	223											
UNC5A	0	.	GRCh38	chr5	176878603	176878603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcaggtggagggcgaCgggcagagcttcagcatcaa	9	6	18	8	2	2	1	2	0	0	1	2	3	2	2	0	5	2	4	0	5	1	1	rs750617210		11LU016_TP	11LU016_NB	C	C																c.2148C>A	p.Asp716Glu	p.D716E	ENST00000329542	13/15	100	71	29	116	116	0	strelka-varscan	UNC5A,missense_variant,p.Asp716Glu,ENST00000329542,NM_133369.2;HK3,downstream_gene_variant,,ENST00000292432,NM_002115.2;UNC5A,downstream_gene_variant,,ENST00000509580,;HK3,downstream_gene_variant,,ENST00000514058,;HK3,downstream_gene_variant,,ENST00000506834,;UNC5A,downstream_gene_variant,,ENST00000513890,;HK3,downstream_gene_variant,,ENST00000514666,;	A	ENST00000329542	Transcript	missense_variant	2422/3812	2148/2529	716/842	D/E	gaC/gaA	rs750617210	1		1	UNC5A	HGNC	HGNC:12567	protein_coding	YES	CCDS34299.1	ENSP00000332737	Q6ZN44		UPI0000047F37	NM_133369.2	tolerated(1)		13/15		hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	176878603	176878603	C	A	1	0	0	0	0	1	0	0	0	17515	535	19	1		1	UNC5A	5	176878603	Missense_Mutation	SNP	C	11LU016_TP	1194625	176878603	4659656	168	224											
SLC17A1	0	.	GRCh38	chr6	25826478	25826478	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctttatattatccaggaGcttctttgtggaggtgttgg	7	17	11	6	0	1	0	0	0	1	0	2	2	2	2	2	4	2	2	2	4	4	8	novel		11LU016_TP	11LU016_NB	G	G																c.190C>G	p.Leu64Val	p.L64V	ENST00000244527	3/13	73	65	8	70	70	0	strelka-varscan-mutect	SLC17A1,missense_variant,p.Leu64Val,ENST00000244527,NM_005074.3;SLC17A1,missense_variant,p.Leu64Val,ENST00000476801,;SLC17A1,missense_variant,p.Leu64Val,ENST00000468082,;SLC17A1,missense_variant,p.Leu64Val,ENST00000377886,;	C	ENST00000244527	Transcript	missense_variant	306/1844	190/1404	64/467	L/V	Ctc/Gtc		1		-1	SLC17A1	HGNC	HGNC:10929	protein_coding	YES	CCDS4565.1	ENSP00000244527	Q14916		UPI00000719C0	NM_005074.3	tolerated(0.47)		3/13		Pfam_domain:PF07690,PROSITE_profiles:PS50850,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00894																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	2	25826478	25826478	G	C	1	0	0	0	0	1	0	0	0	14681	971	34	4		4	SLC17A1	6	25826478	Missense_Mutation	SNP	G	11LU016_TP		25826478	144979501	169	225											
SLC17A2	0	.	GRCh38	chr6	25914666	25914666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattcccatgaggaaacttgCatatctgtgggaagatgatt	12	12	11	6	0	1	3	0	2	1	1	2	6	2	5	1	2	2	1	1	2	3	4	novel		11LU016_TP	11LU016_NB	C	C																c.1216G>T	p.Ala406Ser	p.A406S	ENST00000377850	11/12	141	110	31	109	109	0	strelka-varscan-mutect	SLC17A2,missense_variant,p.Ala406Ser,ENST00000377850,NM_001286123.1;SLC17A2,missense_variant,p.Met356Ile,ENST00000360488,NM_005835.3,NM_001286125.1;SLC17A2,missense_variant,p.Ala406Ser,ENST00000265425,;	A	ENST00000377850	Transcript	missense_variant	1749/2524	1216/1437	406/478	A/S	Gca/Tca		1		-1	SLC17A2	HGNC	HGNC:10930	protein_coding	YES	CCDS69060.1	ENSP00000367081	O00624		UPI000052BFEE	NM_001286123.1	tolerated(0.94)		11/12		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF193,Superfamily_domains:SSF103473																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	2	25914666	25914666	C	A	1	0	0	0	0	1	0	0	0	14682	724	25	2		2	SLC17A2	6	25914666	Missense_Mutation	SNP	C	11LU016_TP	88188	25914666	144891313	170	226											
MOG	0	.	GRCh38	chr6	29666195	29666195	+	Frame_Shift_Del	DEL	G	G	-																															ggagtgctggttctcctcgcGgtgctgcctgtgctcctcct																								rs148630553		11LU016_TP	11LU016_NB	G	G																c.481delG	p.Val161CysfsTer22	p.V161Cfs*22	ENST00000376898	3/8	296	253	43	344	344	0	sindel-varindel-pindel	MOG,frameshift_variant,p.Val161CysfsTer22,ENST00000376894,;MOG,frameshift_variant,p.Val161CysfsTer22,ENST00000376917,NM_206809.3;MOG,frameshift_variant,p.Val161CysfsTer22,ENST00000431798,NM_206812.3;MOG,frameshift_variant,p.Val45CysfsTer22,ENST00000376888,NM_206814.5;MOG,frameshift_variant,p.Val161CysfsTer22,ENST00000376898,NM_002433.4;MOG,frameshift_variant,p.Val161CysfsTer22,ENST00000494692,NM_206811.3;MOG,frameshift_variant,p.Val161CysfsTer22,ENST00000396701,NM_206810.3;MOG,frameshift_variant,p.Val161CysfsTer22,ENST00000376891,NM_001008229.2;MOG,frameshift_variant,p.Val161CysfsTer22,ENST00000396704,NM_001008228.2;MOG,frameshift_variant,p.Val45CysfsTer22,ENST00000490427,NM_001170418.1;MOG,frameshift_variant,p.Val45CysfsTer22,ENST00000483013,;MOG,intron_variant,,ENST00000416766,;MOG,downstream_gene_variant,,ENST00000469603,;MOG,downstream_gene_variant,,ENST00000476244,;MOG,3_prime_UTR_variant,,ENST00000376889,;MOG,3_prime_UTR_variant,,ENST00000485211,;MOG,3_prime_UTR_variant,,ENST00000376903,;MOG,upstream_gene_variant,,ENST00000485885,;	-	ENST00000376898	Transcript	frameshift_variant	480/1027	480/759	160/252	A/X	gcG/gc	rs148630553,COSM168100,COSM4391093	1		1	MOG	HGNC	HGNC:7197	protein_coding	YES	CCDS4667.1	ENSP00000366095	Q16653		UPI00004573E8	NM_002433.4			3/8		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24100,PIRSF_domain:PIRSF016522											0,1,1						HIGH	1	deletion	1	1	0,1,1	1										PASS		.	.												-	7	5	2	29666195	29666195	G	-	1	0	1	0	1	0	0	0	0	9656	1103	39	0		0	MOG	6	29666195	Frame_Shift_Del	DEL	G	11LU016_TP	3751529	29666195	141139784	171	227											
GTF2H4	0	.	GRCh38	chr6	30913818	30913818	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgaccccaggtgtcctGtataaccagttcctgtcgca	7	10	9	15	2	0	0	0	0	0	0	3	1	2	0	6	1	2	3	6	1	2	3	rs754410511		11LU016_TP	11LU016_NB	G	G																c.1224G>A	p.=	p.L408L	ENST00000259895	14/14	52	40	12	56	56	0	strelka-varscan-mutect	GTF2H4,synonymous_variant,p.=,ENST00000259895,NM_001517.4;GTF2H4,synonymous_variant,p.=,ENST00000376316,;VARS2,upstream_gene_variant,,ENST00000321897,NM_020442.5;VARS2,upstream_gene_variant,,ENST00000542001,;VARS2,upstream_gene_variant,,ENST00000541562,NM_001167734.1;VARS2,upstream_gene_variant,,ENST00000625423,NM_001167733.2;VARS2,upstream_gene_variant,,ENST00000428017,;VARS2,upstream_gene_variant,,ENST00000421263,;VARS2,upstream_gene_variant,,ENST00000467717,;GTF2H4,downstream_gene_variant,,ENST00000453897,;VARS2,non_coding_transcript_exon_variant,,ENST00000477288,;GTF2H4,non_coding_transcript_exon_variant,,ENST00000483318,;GTF2H4,non_coding_transcript_exon_variant,,ENST00000475845,;VARS2,upstream_gene_variant,,ENST00000469358,;GTF2H4,downstream_gene_variant,,ENST00000487746,;VARS2,upstream_gene_variant,,ENST00000490699,;	A	ENST00000259895	Transcript	synonymous_variant	1447/1735	1224/1389	408/462	L	ctG/ctA	rs754410511	1		1	GTF2H4	HGNC	HGNC:4658	protein_coding	YES	CCDS34386.1	ENSP00000259895	Q92759		UPI000000D741	NM_001517.4			14/14		hmmpanther:PTHR13152,TIGRFAM_domain:TIGR00625																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	30913818	30913818	G	A	1	0	0	0	0	0	0	0	1	6746	1364	48	3		3	GTF2H4	6	30913818	Silent	SNP	G	11LU016_TP	1247623	30913818	139892161	172	228											
PRRT1	0	.	GRCh38	chr6	32149222	32149222	+	Nonstop_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggccggaccaggggcgtttTtagggatcccagtagttctc	6	10	15	10	2	1	0	0	0	1	0	3	2	2	2	3	5	0	3	3	5	2	5			11LU016_TP	11LU016_NB	T	T																c.921A>C	p.Ter307TyrextTer107	p.*307Yext*107	ENST00000211413	4/4	194	172	22	181	181	0	strelka-varscan-mutect	PRRT1,stop_lost,p.Ter307TyrextTer107,ENST00000211413,NM_030651.3;PRRT1,stop_lost,p.Ter226TyrextTer107,ENST00000375150,;PPT2,upstream_gene_variant,,ENST00000395523,;PPT2,upstream_gene_variant,,ENST00000324816,NM_001204103.1,NM_005155.6;PPT2,upstream_gene_variant,,ENST00000375137,;PPT2,upstream_gene_variant,,ENST00000361568,NM_138717.2;PPT2,upstream_gene_variant,,ENST00000375143,;PPT2,upstream_gene_variant,,ENST00000414204,;PPT2,upstream_gene_variant,,ENST00000424499,;PRRT1,downstream_gene_variant,,ENST00000428778,;PRRT1,non_coding_transcript_exon_variant,,ENST00000467780,;PRRT1,non_coding_transcript_exon_variant,,ENST00000472641,;PPT2,upstream_gene_variant,,ENST00000493548,;PRRT1,downstream_gene_variant,,ENST00000486917,;PPT2,upstream_gene_variant,,ENST00000478521,;PRRT1,downstream_gene_variant,,ENST00000485392,;PRRT1,downstream_gene_variant,,ENST00000498575,;PRRT1,downstream_gene_variant,,ENST00000497552,;PRRT1,downstream_gene_variant,,ENST00000475826,;PRRT1,downstream_gene_variant,,ENST00000494332,;PRRT1,non_coding_transcript_exon_variant,,ENST00000495191,;PPT2-EGFL8,upstream_gene_variant,,ENST00000422437,;PPT2-EGFL8,upstream_gene_variant,,ENST00000428388,;PPT2-EGFL8,upstream_gene_variant,,ENST00000585246,;	G	ENST00000211413	Transcript	stop_lost	1046/1909	921/921	307/306	*/Y	taA/taC	COSM351385	1		-1	PRRT1	HGNC	HGNC:13943	protein_coding	YES	CCDS4739.1	ENSP00000211413	Q99946		UPI000012FFED	NM_030651.3			4/4													1						HIGH	1	SNV	1		1	1										PASS		.	.												G	4	3	2	32149222	32149222	T	G	1	0	0	0	0	0	0	0	0	12755	1848	64	5		5	PRRT1	6	32149222	Nonstop_Mutation	SNP	T	11LU016_TP	1235404	32149222	138656757	173	229											
BRPF3	0	.	GRCh38	chr6	36214161	36214161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccggtaccccacttagtGgtgtgggtcgccgcacatca	6	8	13	14	4	1	0	1	0	0	0	2	0	1	0	4	4	1	2	4	4	2	2	novel		11LU016_TP	11LU016_NB	G	G																c.2764G>T	p.Gly922Cys	p.G922C	ENST00000357641	8/13	149	111	38	150	150	0	strelka-varscan-mutect	BRPF3,missense_variant,p.Gly922Cys,ENST00000357641,NM_015695.2;BRPF3,missense_variant,p.Gly922Cys,ENST00000534400,;BRPF3,intron_variant,,ENST00000339717,;BRPF3,intron_variant,,ENST00000534694,;BRPF3,missense_variant,p.Gly133Cys,ENST00000441730,;BRPF3,3_prime_UTR_variant,,ENST00000441123,;BRPF3,3_prime_UTR_variant,,ENST00000532330,;BRPF3,intron_variant,,ENST00000449261,;BRPF3,downstream_gene_variant,,ENST00000532538,;	T	ENST00000357641	Transcript	missense_variant	3017/6052	2764/3618	922/1205	G/C	Ggt/Tgt		1		1	BRPF3	HGNC	HGNC:14256	protein_coding	YES	CCDS34437.1	ENSP00000350267	Q9ULD4		UPI00001C1E4C	NM_015695.2	deleterious(0.01)		8/13		hmmpanther:PTHR13793:SF19,hmmpanther:PTHR13793																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	36214161	36214161	G	T	1	0	0	0	0	1	0	0	0	1695	1348	47	2		2	BRPF3	6	36214161	Missense_Mutation	SNP	G	11LU016_TP	4064939	36214161	134591818	174	230											
KIF6	0	.	GRCh38	chr6	39639643	39639643	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcaaaaatgtatgacagtgtCcttgggataatgcctctgtc	11	13	9	8	0	2	1	1	1	1	0	4	2	3	2	2	1	1	1	2	1	4	3	novel		11LU016_TP	11LU016_NB	C	C																c.366G>C	p.Arg122Ser	p.R122S	ENST00000287152	4/23	98	80	18	82	82	0	strelka-varscan-mutect	KIF6,missense_variant,p.Arg122Ser,ENST00000287152,NM_145027.4,NM_001289021.1,NM_001289020.1;KIF6,missense_variant,p.Arg14Ser,ENST00000458470,;KIF6,5_prime_UTR_variant,,ENST00000538893,;KIF6,downstream_gene_variant,,ENST00000482238,;	G	ENST00000287152	Transcript	missense_variant	461/9082	366/2445	122/814	R/S	agG/agC		1		-1	KIF6	HGNC	HGNC:21202	protein_coding	YES	CCDS4844.1	ENSP00000287152	Q6ZMV9		UPI0000457436	NM_145027.4,NM_001289021.1,NM_001289020.1	deleterious(0)		4/23		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF194,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	2	39639643	39639643	C	G	1	0	0	0	0	1	0	0	0	8173	854	30	4		4	KIF6	6	39639643	Missense_Mutation	SNP	C	11LU016_TP	3425482	39639643	131166336	175	231											
SLC22A7	0	.	GRCh38	chr6	43298512	43298512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcccaccgatgtgccctgCcgggtgcccctgccaacttc	4	8	10	19	2	0	0	0	0	0	0	1	1	0	0	7	1	6	0	7	1	1	1	novel		11LU016_TP	11LU016_NB	C	C																c.154C>A	p.Pro52Thr	p.P52T	ENST00000372585	1/11	207	196	11	268	268	0	strelka-mutect	SLC22A7,missense_variant,p.Pro52Thr,ENST00000372585,NM_153320.2;SLC22A7,missense_variant,p.Pro52Thr,ENST00000372589,NM_006672.3;SLC22A7,missense_variant,p.Pro52Thr,ENST00000372574,;SLC22A7,missense_variant,p.Pro52Thr,ENST00000449231,;SLC22A7,intron_variant,,ENST00000451757,;SLC22A7,upstream_gene_variant,,ENST00000436107,;CRIP3,downstream_gene_variant,,ENST00000416431,;SLC22A7,intron_variant,,ENST00000487175,;SLC22A7,intron_variant,,ENST00000480882,;SLC22A7,missense_variant,p.Pro52Thr,ENST00000498232,;	A	ENST00000372585	Transcript	missense_variant	249/2555	154/1647	52/548	P/T	Ccg/Acg		1		1	SLC22A7	HGNC	HGNC:10971	protein_coding	YES	CCDS4893.2	ENSP00000361666	Q9Y694		UPI000006F307	NM_153320.2	deleterious(0.03)		1/11		hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF33,TIGRFAM_domain:TIGR00898																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	2	43298512	43298512	C	A	1	0	0	0	0	1	0	0	0	14725	739	26	2		2	SLC22A7	6	43298512	Missense_Mutation	SNP	C	11LU016_TP	3658869	43298512	127507467	176	232											
TJAP1	0	.	GRCh38	chr6	43501684	43501684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatttaaggataagttccGcaggtgtgggaatgaggggc	12	9	15	5	1	0	1	0	1	0	0	1	3	1	3	1	5	0	2	1	5	4	4			11LU016_TP	11LU016_NB	G	G																c.287G>T	p.Arg96Leu	p.R96L	ENST00000372445	6/11	105	94	11	165	163	2	strelka-varscan-mutect	TJAP1,missense_variant,p.Arg54Leu,ENST00000454762,;TJAP1,missense_variant,p.Arg96Leu,ENST00000372444,NM_001146018.1;TJAP1,missense_variant,p.Arg96Leu,ENST00000372445,NM_001146016.1;TJAP1,missense_variant,p.Arg96Leu,ENST00000259751,NM_080604.2;TJAP1,missense_variant,p.Arg96Leu,ENST00000438588,NM_001146017.1;TJAP1,missense_variant,p.Arg96Leu,ENST00000372449,;TJAP1,missense_variant,p.Arg96Leu,ENST00000372452,NM_001146019.1;TJAP1,missense_variant,p.Arg96Leu,ENST00000436109,NM_001146020.1;TJAP1,missense_variant,p.Arg96Leu,ENST00000442878,;TJAP1,missense_variant,p.Arg96Leu,ENST00000372454,;TJAP1,3_prime_UTR_variant,,ENST00000612912,;TJAP1,non_coding_transcript_exon_variant,,ENST00000483640,;TJAP1,non_coding_transcript_exon_variant,,ENST00000490050,;TJAP1,non_coding_transcript_exon_variant,,ENST00000478173,;TJAP1,non_coding_transcript_exon_variant,,ENST00000459851,;	T	ENST00000372445	Transcript	missense_variant	663/2751	287/1674	96/557	R/L	cGc/cTc	COSM1444735,COSM5156444	1		1	TJAP1	HGNC	HGNC:17949	protein_coding	YES	CCDS55004.1	ENSP00000361522	Q5JTD0		UPI00004A3A96	NM_001146016.1	deleterious(0.03)		6/11		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR28664,hmmpanther:PTHR28664:SF3											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1382952411	.												T	3	4	2	43501684	43501684	G	T	1	0	0	0	0	1	0	0	0	16370	1101	38	1		1	TJAP1	6	43501684	Missense_Mutation	SNP	G	11LU016_TP	203172	43501684	127304295	177	233											
EEF1A1	0	.	GRCh38	chr6	73519881	73519881	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctttctggtattaaacatAcctcagcagcctccttctca	9	13	4	15	0	3	0	2	0	2	0	5	0	4	0	4	1	4	2	4	1	4	5	novel		11LU016_TP	11LU016_NB	A	A																c.144+2T>C		p.X48_splice	ENST00000316292		99	85	14	100	100	0	strelka-varscan-mutect	EEF1A1,splice_donor_variant,,ENST00000316292,NM_001402.5;EEF1A1,splice_donor_variant,,ENST00000615060,;EEF1A1,splice_donor_variant,,ENST00000610520,;EEF1A1,splice_donor_variant,,ENST00000309268,;EEF1A1,splice_donor_variant,,ENST00000331523,;EEF1A1,splice_donor_variant,,ENST00000455918,;EEF1A1,splice_donor_variant,,ENST00000356303,;RP11-505P4.7,upstream_gene_variant,,ENST00000429386,;RP11-505P4.7,upstream_gene_variant,,ENST00000431108,;EEF1A1,upstream_gene_variant,,ENST00000491404,;EEF1A1,splice_donor_variant,,ENST00000490569,;EEF1A1,splice_donor_variant,,ENST00000495333,;EEF1A1,splice_donor_variant,,ENST00000488500,;	G	ENST00000316292	Transcript	splice_donor_variant	-/4441	144/1389	48/462				1		-1	EEF1A1	HGNC	HGNC:3189	protein_coding	YES	CCDS4980.1	ENSP00000339063	P68104	Q6IPS9	UPI00000012CA	NM_001402.5				1/6																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	2	73519881	73519881	A	G	1	0	0	0	0	0	0	1	0	4752	405	14	5		5	EEF1A1	6	73519881	Splice_Site	SNP	A	11LU016_TP	30018197	73519881	97286098	178	234											
COL12A1	0	.	GRCh38	chr6	75183249	75183249	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaacatctgaattcctCagttttatcgcaggatctct	10	16	5	10	1	4	1	2	1	2	0	7	2	5	2	1	1	1	2	1	1	3	4	novel		11LU016_TP	11LU016_NB	C	C																c.1692G>T	p.=	p.L564L	ENST00000322507	10/66	230	210	20	231	231	0	strelka-varscan-mutect	COL12A1,synonymous_variant,p.=,ENST00000322507,NM_004370.5;COL12A1,synonymous_variant,p.=,ENST00000483888,;COL12A1,synonymous_variant,p.=,ENST00000416123,;COL12A1,5_prime_UTR_variant,,ENST00000615798,;COL12A1,intron_variant,,ENST00000345356,NM_080645.2;COL12A1,non_coding_transcript_exon_variant,,ENST00000486533,;	A	ENST00000322507	Transcript	synonymous_variant	2002/11723	1692/9192	564/3063	L	ctG/ctT		1		-1	COL12A1	HGNC	HGNC:2188	protein_coding	YES	CCDS43482.1	ENSP00000325146	Q99715		UPI000045890B	NM_004370.5			10/66		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF106,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	75183249	75183249	C	A	1	0	0	0	0	0	0	0	1	3457	813	29	2		2	COL12A1	6	75183249	Silent	SNP	C	11LU016_TP	1663368	75183249	95622730	179	235											
SNAP91	0	.	GRCh38	chr6	83605727	83605727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaggtggtggtggtgctgGtgctgcggctgctgctgccc	2	10	19	10	1	0	0	0	0	0	0	0	0	0	0	1	6	7	6	1	6	0	0	novel		11LU016_TP	11LU016_NB	G	G																c.1099C>A	p.Pro367Thr	p.P367T	ENST00000439399	14/30	147	133	14	158	158	0	strelka-varscan-mutect	SNAP91,missense_variant,p.Pro367Thr,ENST00000521485,;SNAP91,missense_variant,p.Pro367Thr,ENST00000439399,NM_014841.2;SNAP91,missense_variant,p.Pro367Thr,ENST00000369694,NM_001242792.1;SNAP91,missense_variant,p.Pro367Thr,ENST00000195649,NM_001256718.1;SNAP91,missense_variant,p.Pro367Thr,ENST00000521743,;SNAP91,missense_variant,p.Pro365Thr,ENST00000520302,NM_001256717.1,NM_001242793.1;SNAP91,missense_variant,p.Pro351Thr,ENST00000520213,NM_001242794.1;SNAP91,missense_variant,p.Pro365Thr,ENST00000521931,;SNAP91,missense_variant,p.Pro27Thr,ENST00000369691,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;	T	ENST00000439399	Transcript	missense_variant	1416/4452	1099/2724	367/907	P/T	Cca/Aca		1		-1	SNAP91	HGNC	HGNC:14986	protein_coding	YES	CCDS47455.1	ENSP00000400459	O60641		UPI0000124FB3	NM_014841.2	tolerated(0.06)		14/30		Low_complexity_(Seg):seg,hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4																	MODERATE	1	SNV	5			1										PASS		rs956062773	.												T	3	4	2	83605727	83605727	G	T	1	0	0	0	0	1	0	0	0	15154	1261	44	2		2	SNAP91	6	83605727	Missense_Mutation	SNP	G	11LU016_TP	8422478	83605727	87200252	180	236											
CEP162	0	.	GRCh38	chr6	84215902	84215902	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctttgttttcaaatagcTcacatttgttccaagaagtc	10	17	5	9	0	3	1	2	0	1	1	5	1	4	1	1	0	1	3	1	0	4	7	novel		11LU016_TP	11LU016_NB	T	T																c.193A>T	p.Ser65Cys	p.S65C	ENST00000403245	4/27	56	49	7	90	90	0	strelka-varscan-mutect	CEP162,missense_variant,p.Ser65Cys,ENST00000403245,NM_014895.3;CEP162,5_prime_UTR_variant,,ENST00000617909,;CEP162,5_prime_UTR_variant,,ENST00000257766,NM_001286206.1;CEP162,non_coding_transcript_exon_variant,,ENST00000497936,;CEP162,3_prime_UTR_variant,,ENST00000435955,;	A	ENST00000403245	Transcript	missense_variant	308/5156	193/4212	65/1403	S/C	Agc/Tgc		1		-1	CEP162	HGNC	HGNC:21107	protein_coding	YES	CCDS34494.2	ENSP00000385215	Q5TB80		UPI0001533DAA	NM_014895.3	deleterious(0)		4/27		hmmpanther:PTHR34031																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	2	84215902	84215902	T	A	1	0	0	0	0	1	0	0	0	2962	1551	54	4		4	CEP162	6	84215902	Missense_Mutation	SNP	T	11LU016_TP	610175	84215902	86590077	181	237											
QRSL1	0	.	GRCh38	chr6	106652479	106652479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttacaggtgcactggccgGacctgaccccagggactcta	8	7	11	15	1	1	1	0	1	1	0	1	3	1	3	5	4	2	1	5	4	2	2	novel		11LU016_TP	11LU016_NB	G	G																c.746G>T	p.Gly249Val	p.G249V	ENST00000369046	7/11	118	97	21	119	119	0	strelka-varscan-mutect	QRSL1,missense_variant,p.Gly249Val,ENST00000369046,NM_018292.4;QRSL1,missense_variant,p.Gly249Val,ENST00000369044,;	T	ENST00000369046	Transcript	missense_variant	850/4106	746/1587	249/528	G/V	gGa/gTa		1		1	QRSL1	HGNC	HGNC:21020	protein_coding	YES	CCDS5057.1	ENSP00000358042	Q9H0R6		UPI0000047463	NM_018292.4	deleterious(0)		7/11		HAMAP:MF_00120,hmmpanther:PTHR11895:SF7,hmmpanther:PTHR11895,TIGRFAM_domain:TIGR00132,Gene3D:3.90.1300.10,Pfam_domain:PF01425,Superfamily_domains:SSF75304																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	106652479	106652479	G	T	1	0	0	0	0	1	0	0	0	13036	1174	41	2		2	QRSL1	6	106652479	Missense_Mutation	SNP	G	11LU016_TP	22436577	106652479	64153500	182	238											
TBC1D32	0	.	GRCh38	chr6	121160959	121160959	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacactcaccttttcgagtaAcctcggaggcaaaatccgtt	11	10	7	13	3	1	0	1	0	0	0	4	2	2	1	3	2	1	3	3	2	3	4			11LU016_TP	11LU016_NB	A	A																c.2668T>G	p.Leu890Val	p.L890V	ENST00000398212	23/32	188	174	14	278	278	0	strelka-varscan-mutect	TBC1D32,missense_variant,p.Leu931Val,ENST00000275159,;TBC1D32,missense_variant,p.Leu890Val,ENST00000398212,NM_152730.5;TBC1D32,non_coding_transcript_exon_variant,,ENST00000398197,;TBC1D32,non_coding_transcript_exon_variant,,ENST00000523345,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;TBC1D32,upstream_gene_variant,,ENST00000509492,;	C	ENST00000398212	Transcript	missense_variant	2718/3824	2668/3774	890/1257	L/V	Tta/Gta	COSM4570368	1		-1	TBC1D32	HGNC	HGNC:21485	protein_coding	YES	CCDS43501.1	ENSP00000381270	Q96NH3		UPI0000E67203	NM_152730.5	tolerated(0.87)		23/32		Pfam_domain:PF14961,hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	5		1	1										PASS		.	.												C	3	2	2	121160959	121160959	A	C	1	0	0	0	0	1	0	0	0	16022	40	2	5		5	TBC1D32	6	121160959	Missense_Mutation	SNP	A	11LU016_TP	14508480	121160959	49645020	183	239											
TCF21	0	.	GRCh38	chr6	133889563	133889563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaagggccgcggcggcCtgggcaagaggaggaaggcg	9	1	20	11	4	0	2	0	0	0	2	0	4	0	4	3	7	0	1	3	7	3	0			11LU016_TP	11LU016_NB	C	C																c.166C>A	p.Leu56Met	p.L56M	ENST00000367882	1/2	368	295	73	377	377	0	strelka-varscan-mutect	TCF21,missense_variant,p.Leu56Met,ENST00000367882,NM_003206.3;TCF21,missense_variant,p.Leu56Met,ENST00000237316,NM_198392.2;TARID,intron_variant,,ENST00000630728,;TARID,intron_variant,,ENST00000607641,;TARID,intron_variant,,ENST00000630119,;TARID,intron_variant,,ENST00000626104,;TARID,intron_variant,,ENST00000631362,;TARID,intron_variant,,ENST00000607573,;TARID,upstream_gene_variant,,ENST00000607033,;TARID,upstream_gene_variant,,ENST00000606544,;	A	ENST00000367882	Transcript	missense_variant	426/4551	166/540	56/179	L/M	Ctg/Atg	COSM740034	1		1	TCF21	HGNC	HGNC:11632	protein_coding	YES	CCDS5167.1	ENSP00000356857	O43680		UPI0000001290	NM_003206.3	tolerated(0.22)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR23349:SF67,hmmpanther:PTHR23349											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	2	133889563	133889563	C	A	1	0	0	0	0	1	0	0	0	16098	680	24	2		2	TCF21	6	133889563	Missense_Mutation	SNP	C	11LU016_TP	12728604	133889563	36916416	184	240											
MYB	0	.	GRCh38	chr6	135194406	135194406	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaagcgaataaaggaattAgaattgctcctaatgtcaac	18	9	8	6	1	1	1	1	0	0	1	2	4	2	2	1	1	3	1	1	1	10	4	novel		11LU016_TP	11LU016_NB	A	A																c.894A>T	p.Leu298Phe	p.L298F	ENST00000341911	8/16	93	84	9	158	158	0	strelka-varscan-mutect	MYB,missense_variant,p.Leu298Phe,ENST00000341911,NM_001130173.1;MYB,missense_variant,p.Leu298Phe,ENST00000616088,;MYB,missense_variant,p.Leu298Phe,ENST00000316528,;MYB,missense_variant,p.Leu298Phe,ENST00000618728,;MYB,missense_variant,p.Leu298Phe,ENST00000442647,NM_001130172.1;MYB,missense_variant,p.Leu298Phe,ENST00000367814,NM_005375.2;MYB,missense_variant,p.Leu298Phe,ENST00000525369,NM_001161657.1;MYB,missense_variant,p.Leu298Phe,ENST00000527615,;MYB,missense_variant,p.Leu298Phe,ENST00000528774,NM_001161656.1;MYB,missense_variant,p.Leu298Phe,ENST00000534121,NM_001161658.1;MYB,missense_variant,p.Leu298Phe,ENST00000534044,NM_001161659.1;MYB,missense_variant,p.Leu274Phe,ENST00000420123,;MYB,missense_variant,p.Leu252Phe,ENST00000430686,;MYB,intron_variant,,ENST00000533624,NM_001161660.1;MYB-AS1,downstream_gene_variant,,ENST00000455534,;MYB,non_coding_transcript_exon_variant,,ENST00000531845,;MYB,missense_variant,p.Leu298Phe,ENST00000367812,;MYB,missense_variant,p.Leu298Phe,ENST00000533837,;MYB,missense_variant,p.Leu298Phe,ENST00000438901,;MYB,missense_variant,p.Leu298Phe,ENST00000525477,;MYB,missense_variant,p.Leu298Phe,ENST00000463282,;MYB,missense_variant,p.Leu298Phe,ENST00000339290,;MYB,missense_variant,p.Leu298Phe,ENST00000533808,;MYB,missense_variant,p.Leu298Phe,ENST00000525514,;MYB,missense_variant,p.Leu298Phe,ENST00000529586,;MYB,missense_variant,p.Leu298Phe,ENST00000526889,;MYB,missense_variant,p.Leu298Phe,ENST00000526320,;MYB,missense_variant,p.Leu298Phe,ENST00000531519,;MYB,missense_variant,p.Leu298Phe,ENST00000533384,;MYB,missense_variant,p.Leu298Phe,ENST00000531737,;MYB,missense_variant,p.Leu298Phe,ENST00000529262,;MYB,missense_variant,p.Leu298Phe,ENST00000526565,;MYB,missense_variant,p.Leu298Phe,ENST00000528015,;MYB,missense_variant,p.Leu298Phe,ENST00000526187,;MYB,missense_variant,p.Leu298Phe,ENST00000525002,;MYB,missense_variant,p.Leu298Phe,ENST00000528343,;MYB,missense_variant,p.Leu298Phe,ENST00000528140,;MYB,missense_variant,p.Leu274Phe,ENST00000528345,;MYB,missense_variant,p.Leu298Phe,ENST00000525940,;MYB,3_prime_UTR_variant,,ENST00000531634,;MYB,3_prime_UTR_variant,,ENST00000524588,;MYB,upstream_gene_variant,,ENST00000534736,;	T	ENST00000341911	Transcript	missense_variant	1093/3672	894/2286	298/761	L/F	ttA/ttT		1		1	MYB	HGNC	HGNC:7545	protein_coding	YES	CCDS47481.1	ENSP00000339992	P10242		UPI000002AE9A	NM_001130173.1	deleterious(0)		8/16		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF07988,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	135194406	135194406	A	T	1	0	0	0	0	1	0	0	0	10007	417	15	4		4	MYB	6	135194406	Missense_Mutation	SNP	A	11LU016_TP	1304843	135194406	35611573	185	241											
HIVEP2	0	.	GRCh38	chr6	142764910	142764910	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacagcgaatcccacattCttcacaaatgtactttcccc	11	12	3	15	1	2	0	1	0	1	0	4	1	4	0	3	0	3	1	3	0	4	5	novel		11LU016_TP	11LU016_NB	C	C																c.5407G>T	p.Glu1803Ter	p.E1803*	ENST00000367603	7/10	131	108	23	210	210	0	strelka-varscan-mutect	HIVEP2,stop_gained,p.Glu1803Ter,ENST00000367603,NM_006734.3;HIVEP2,stop_gained,p.Glu1803Ter,ENST00000367604,;HIVEP2,stop_gained,p.Glu1803Ter,ENST00000012134,;	A	ENST00000367603	Transcript	stop_gained	6150/9723	5407/7341	1803/2446	E/*	Gaa/Taa		1		-1	HIVEP2	HGNC	HGNC:4921	protein_coding	YES	CCDS43510.1	ENSP00000356575	P31629		UPI00004708DD	NM_006734.3			7/10		PROSITE_profiles:PS50157,hmmpanther:PTHR23233:SF53,hmmpanther:PTHR23233,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	2	142764910	142764910	C	A	1	0	0	0	0	0	1	0	0	7076	922	32	2		2	HIVEP2	6	142764910	Nonsense_Mutation	SNP	C	11LU016_TP	7570504	142764910	28041069	186	242											
EPM2A	0	.	GRCh38	chr6	145625714	145625714	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatagtggaaatgtgtccTggctagctgcctctgcccaa	9	12	10	10	0	1	0	0	0	1	0	2	1	2	1	3	2	3	2	3	2	5	3	rs757334796		11LU016_TP	11LU016_NB	T	T																c.935A>T	p.Gln312Leu	p.Q312L	ENST00000618445	5/5	338	272	66	290	290	0	strelka-varscan-mutect	EPM2A,missense_variant,p.Gln312Leu,ENST00000618445,NM_001018041.1;EPM2A,missense_variant,p.Gln232Leu,ENST00000435470,;EPM2A,3_prime_UTR_variant,,ENST00000611340,;EPM2A,3_prime_UTR_variant,,ENST00000367519,NM_005670.3;EPM2A,intron_variant,,ENST00000450221,;	A	ENST00000618445	Transcript	missense_variant	1292/1694	935/954	312/317	Q/L	cAg/cTg	rs757334796	1		-1	EPM2A	HGNC	HGNC:3413	protein_coding			ENSP00000480339	O95278		UPI00003BF71F	NM_001018041.1	deleterious_low_confidence(0.01)		5/5		hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF326																	MODERATE		SNV	1			1										PASS		rs757334796	.												A	3	1	2	145625714	145625714	T	A	1	0	0	0	0	1	0	0	0	5030	1580	55	4		4	EPM2A	6	145625714	Missense_Mutation	SNP	T	11LU016_TP	2860804	145625714	25180265	187	243											
PCMT1	0	.	GRCh38	chr6	149749764	149749764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggcagcggcggcgacGgcagtaacagcggcagctac	8	3	18	12	6	0	0	0	0	0	0	0	1	0	0	0	6	5	5	0	6	2	2	rs778241850		11LU016_TP	11LU016_NB	G	G																c.37G>A	p.Gly13Ser	p.G13S	ENST00000367384	1/8	93	81	12	107	107	0	strelka-varscan-mutect	PCMT1,missense_variant,p.Gly13Ser,ENST00000464889,NM_005389.2;PCMT1,missense_variant,p.Gly13Ser,ENST00000367384,NM_001252052.1,NM_001252049.1;PCMT1,missense_variant,p.Gly13Ser,ENST00000367380,NM_001252051.1;PCMT1,missense_variant,p.Gly13Ser,ENST00000544496,NM_001252050.1;PCMT1,missense_variant,p.Gly13Ser,ENST00000367378,NM_001252053.1;NUP43,upstream_gene_variant,,ENST00000340413,NM_198887.2;NUP43,upstream_gene_variant,,ENST00000367404,;NUP43,upstream_gene_variant,,ENST00000543637,;PCMT1,upstream_gene_variant,,ENST00000495487,;NUP43,upstream_gene_variant,,ENST00000463048,;PCMT1,missense_variant,p.Gly13Ser,ENST00000484601,;PCMT1,missense_variant,p.Gly13Ser,ENST00000494411,;PCMT1,missense_variant,p.Gly13Ser,ENST00000460828,;NUP43,upstream_gene_variant,,ENST00000403890,;NUP43,upstream_gene_variant,,ENST00000367402,;PCMT1,upstream_gene_variant,,ENST00000486585,;	A	ENST00000367384	Transcript	missense_variant	322/1938	37/861	13/286	G/S	Ggc/Agc	rs778241850	1		1	PCMT1	HGNC	HGNC:8728	protein_coding	YES	CCDS59041.1	ENSP00000356354		H7BY58	UPI0001B7942B	NM_001252052.1,NM_001252049.1	deleterious_low_confidence(0)		1/8		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs778241850	.												A	3	1	2	149749764	149749764	G	A	1	0	0	0	0	1	0	0	0	11673	1116	39	1		1	PCMT1	6	149749764	Missense_Mutation	SNP	G	11LU016_TP	4124050	149749764	21056215	188	244											
FNDC1	0	.	GRCh38	chr6	159229834	159229834	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatacattctttcatacgcCccggctctcaaaccatttgg	10	12	6	13	2	3	0	2	0	2	0	4	1	3	0	3	2	3	1	3	2	4	5	novel		11LU016_TP	11LU016_NB	C	C																c.1200C>A	p.=	p.A400A	ENST00000297267	10/23	75	69	6	84	83	1	strelka-varscan-mutect	FNDC1,synonymous_variant,p.=,ENST00000297267,NM_032532.2;FNDC1,intron_variant,,ENST00000329629,;FNDC1,downstream_gene_variant,,ENST00000480856,;	A	ENST00000297267	Transcript	synonymous_variant	1400/6552	1200/5685	400/1894	A	gcC/gcA		1		1	FNDC1	HGNC	HGNC:21184	protein_coding	YES	CCDS47512.1	ENSP00000297267	Q4ZHG4		UPI0000579B80	NM_032532.2			10/23		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF8,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	159229834	159229834	C	A	1	0	0	0	0	0	0	0	1	5824	610	22	2		2	FNDC1	6	159229834	Silent	SNP	C	11LU016_TP	9480070	159229834	11576145	189	245											
WTAP	0	.	GRCh38	chr6	159755471	159755471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgaaaactctctcacaCaccaatcaaatgacacagac	17	6	5	13	0	3	3	2	2	1	1	4	3	3	3	1	0	1	1	1	0	4	0	novel		11LU016_TP	11LU016_NB	C	C																c.1051C>T	p.His351Tyr	p.H351Y	ENST00000358372	8/8	252	238	14	273	273	0	strelka-varscan-mutect	WTAP,missense_variant,p.His351Tyr,ENST00000358372,NM_004906.4;WTAP,missense_variant,p.His351Tyr,ENST00000621533,NM_001270531.1;SOD2,intron_variant,,ENST00000546087,NM_001322817.1;ACAT2,upstream_gene_variant,,ENST00000367048,NM_005891.2;SOD2,downstream_gene_variant,,ENST00000535372,;	T	ENST00000358372	Transcript	missense_variant	2808/3656	1051/1191	351/396	H/Y	Cac/Tac		1		1	WTAP	HGNC	HGNC:16846	protein_coding	YES	CCDS5266.1	ENSP00000351141	Q15007		UPI0000070280	NM_004906.4	deleterious_low_confidence(0.01)		8/8		hmmpanther:PTHR15217:SF0,hmmpanther:PTHR15217																	MODERATE	1	SNV	1			1										PASS		rs1347940126	.												T	3	4	2	159755471	159755471	C	T	1	0	0	0	0	1	0	0	0	17966	478	17	3		3	WTAP	6	159755471	Missense_Mutation	SNP	C	11LU016_TP	525637	159755471	11050508	190	246											
PLG	0	.	GRCh38	chr6	160706523	160706523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcagcaaaatgtgaggagGacgaagaattcacctgcagg	14	6	14	7	1	1	2	1	1	0	1	1	5	1	4	1	3	3	3	1	3	4	1	rs770158666		11LU016_TP	11LU016_NB	G	G																c.166G>T	p.Asp56Tyr	p.D56Y	ENST00000308192	2/19	184	168	16	159	159	0	strelka-varscan-mutect	PLG,missense_variant,p.Asp56Tyr,ENST00000308192,NM_000301.3;PLG,missense_variant,p.Asp56Tyr,ENST00000366924,NM_001168338.1;PLG,missense_variant,p.Asp56Tyr,ENST00000418964,;PLG,non_coding_transcript_exon_variant,,ENST00000462918,;PLG,non_coding_transcript_exon_variant,,ENST00000494325,;PLG,non_coding_transcript_exon_variant,,ENST00000483038,;PLG,intron_variant,,ENST00000297289,;PLG,non_coding_transcript_exon_variant,,ENST00000484367,;PLG,non_coding_transcript_exon_variant,,ENST00000471691,;	T	ENST00000308192	Transcript	missense_variant	229/2741	166/2433	56/810	D/Y	Gac/Tac	rs770158666	1		1	PLG	HGNC	HGNC:9071	protein_coding	YES	CCDS5279.1	ENSP00000308938	P00747		UPI000000D8B8	NM_000301.3	deleterious(0)		2/19		Gene3D:3.50.4.10,Pfam_domain:PF00024,PIRSF_domain:PIRSF001150,PROSITE_profiles:PS50948,Low_complexity_(Seg):seg,SMART_domains:SM00473,Superfamily_domains:SSF57414																	MODERATE	1	SNV	1			1										PASS		rs770158666	.												T	3	4	2	160706523	160706523	G	T	1	0	0	0	0	1	0	0	0	12181	1174	41	2		2	PLG	6	160706523	Missense_Mutation	SNP	G	11LU016_TP	951052	160706523	10099456	191	247											
MAP3K4	0	.	GRCh38	chr6	161048896	161048896	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccatgcctatagccagAcctgcacgccagacttctag	9	8	9	15	1	1	2	0	0	1	2	1	2	1	2	5	0	4	1	5	0	3	4	novel		11LU016_TP	11LU016_NB	A	A																c.624A>T	p.Arg208Ser	p.R208S	ENST00000392142	3/27	215	198	17	187	187	0	strelka-varscan-mutect	MAP3K4,missense_variant,p.Arg208Ser,ENST00000392142,NM_005922.3,NM_001291958.1;MAP3K4,missense_variant,p.Arg208Ser,ENST00000366920,NM_001301072.1;MAP3K4,missense_variant,p.Arg208Ser,ENST00000366919,NM_006724.3;MAP3K4,missense_variant,p.Arg208Ser,ENST00000348824,;MAP3K4,downstream_gene_variant,,ENST00000446500,;MAP3K4,missense_variant,p.Arg208Ser,ENST00000490904,;MAP3K4,missense_variant,p.Arg208Ser,ENST00000544041,;MAP3K4,intron_variant,,ENST00000542952,;	T	ENST00000392142	Transcript	missense_variant	772/5490	624/4827	208/1608	R/S	agA/agT		1		1	MAP3K4	HGNC	HGNC:6856	protein_coding	YES	CCDS34565.1	ENSP00000375986	Q9Y6R4		UPI00004574E1	NM_005922.3,NM_001291958.1	deleterious(0)		3/27																			MODERATE	1	SNV	1			1										PASS		rs1205826086	.												T	3	4	2	161048896	161048896	A	T	1	0	0	0	0	1	0	0	0	9175	272	10	4		4	MAP3K4	6	161048896	Missense_Mutation	SNP	A	11LU016_TP	342373	161048896	9757083	192	248											
MAP3K4	0	.	GRCh38	chr6	161049811	161049811	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaccagactggagcacAgaagcaggctttagtagaca	14	5	13	9	0	0	3	0	0	0	3	0	5	0	5	1	3	3	5	1	3	3	3	rs770545383		11LU016_TP	11LU016_NB	A	A																c.1539A>T	p.=	p.T513T	ENST00000392142	3/27	171	157	14	149	149	0	strelka-varscan-mutect	MAP3K4,synonymous_variant,p.=,ENST00000392142,NM_005922.3,NM_001291958.1;MAP3K4,synonymous_variant,p.=,ENST00000366920,NM_001301072.1;MAP3K4,synonymous_variant,p.=,ENST00000366919,NM_006724.3;MAP3K4,synonymous_variant,p.=,ENST00000348824,;MAP3K4,downstream_gene_variant,,ENST00000446500,;MAP3K4,synonymous_variant,p.=,ENST00000490904,;MAP3K4,synonymous_variant,p.=,ENST00000544041,;MAP3K4,intron_variant,,ENST00000542952,;	T	ENST00000392142	Transcript	synonymous_variant	1687/5490	1539/4827	513/1608	T	acA/acT	rs770545383	1		1	MAP3K4	HGNC	HGNC:6856	protein_coding	YES	CCDS34565.1	ENSP00000375986	Q9Y6R4		UPI00004574E1	NM_005922.3,NM_001291958.1			3/27																			LOW	1	SNV	1			1										PASS		rs770545383	.												T	2	4	2	161049811	161049811	A	T	1	0	0	0	0	0	0	0	1	9175	175	7	4		4	MAP3K4	6	161049811	Silent	SNP	A	11LU016_TP	915	161049811	9756168	193	249											
GPR31	0	.	GRCh38	chr6	167157006	167157006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtataccacggggttgagcaCactgtgcaggtaggtgaggc	9	8	16	8	1	0	2	0	2	0	0	0	2	0	2	1	5	3	5	1	5	3	4	novel		11LU016_TP	11LU016_NB	C	C																c.826G>T	p.Val276Leu	p.V276L	ENST00000366834	1/1	236	208	28	351	351	0	strelka-varscan-mutect	GPR31,missense_variant,p.Val276Leu,ENST00000366834,NM_005299.2;TCP10L2,intron_variant,,ENST00000486697,;TCP10L2,intron_variant,,ENST00000539001,;	A	ENST00000366834	Transcript	missense_variant	1324/2059	826/960	276/319	V/L	Gtg/Ttg		1		-1	GPR31	HGNC	HGNC:4486	protein_coding	YES	CCDS5299.1	ENSP00000355799	O00270		UPI000007390A	NM_005299.2	deleterious(0.04)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF37,hmmpanther:PTHR24231,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	2	167157006	167157006	C	A	1	0	0	0	0	1	0	0	0	6571	478	17	2		2	GPR31	6	167157006	Missense_Mutation	SNP	C	11LU016_TP	6107195	167157006	3648973	194	250											
TTLL2	0	.	GRCh38	chr6	167341545	167341545	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcagaccgtggcaaagctCcagatccccaagcaggcaac	12	5	10	14	1	1	2	1	0	0	2	3	2	3	2	4	2	3	4	4	2	3	0	novel		11LU016_TP	11LU016_NB	C	C																c.1645C>A	p.Pro549Thr	p.P549T	ENST00000239587	3/3	313	290	23	360	359	1	strelka-varscan-mutect	TTLL2,missense_variant,p.Pro549Thr,ENST00000239587,NM_031949.4;TTLL2,missense_variant,p.Pro549Thr,ENST00000515138,;TTLL2,downstream_gene_variant,,ENST00000512917,;	A	ENST00000239587	Transcript	missense_variant	1733/2075	1645/1779	549/592	P/T	Cca/Aca		1		1	TTLL2	HGNC	HGNC:21211	protein_coding	YES	CCDS5301.1	ENSP00000239587	Q9BWV7		UPI00001A3A8B	NM_031949.4	deleterious(0.02)		3/3		hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	167341545	167341545	C	A	1	0	0	0	0	1	0	0	0	17238	855	30	2		2	TTLL2	6	167341545	Missense_Mutation	SNP	C	11LU016_TP	184539	167341545	3464434	195	251											
KIF25	0	.	GRCh38	chr6	168040188	168040188	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgataattacggtgactctAaccacagcctcctgctctga	10	11	7	13	1	2	3	0	3	2	0	3	3	3	3	3	1	4	1	3	1	3	3	novel		11LU016_TP	11LU016_NB	A	A																c.618A>G	p.=	p.L206L	ENST00000443060	7/10	131	115	16	139	139	0	strelka-varscan-mutect	KIF25,synonymous_variant,p.=,ENST00000443060,;KIF25,synonymous_variant,p.=,ENST00000354419,NM_030615.2;KIF25,synonymous_variant,p.=,ENST00000351261,NM_005355.3;KIF25,downstream_gene_variant,,ENST00000496008,;KIF25,downstream_gene_variant,,ENST00000504593,;	G	ENST00000443060	Transcript	synonymous_variant	1009/1613	618/1155	206/384	L	ctA/ctG		1		1	KIF25	HGNC	HGNC:6390	protein_coding	YES	CCDS5305.1	ENSP00000388878	Q9UIL4		UPI000012DDAB				7/10		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF421,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	2	168040188	168040188	A	G	1	0	0	0	0	0	0	0	1	8158	349	13	5		5	KIF25	6	168040188	Silent	SNP	A	11LU016_TP	698643	168040188	2765791	196	252											
DLL1	0	.	GRCh38	chr6	170283431	170283431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggaagtccgccttcttGttggtgttcttgatctgcgt	3	16	12	10	3	3	1	0	1	3	0	4	2	4	2	3	2	1	2	3	2	1	5	novel		11LU016_TP	11LU016_NB	G	G																c.1848C>A	p.Asn616Lys	p.N616K	ENST00000366756	9/11	595	541	54	722	722	0	strelka-varscan-mutect	DLL1,missense_variant,p.Asn616Lys,ENST00000366756,NM_005618.3;LINC01624,downstream_gene_variant,,ENST00000607074,;LINC01624,downstream_gene_variant,,ENST00000438622,;LINC01624,downstream_gene_variant,,ENST00000422894,;	T	ENST00000366756	Transcript	missense_variant	2182/3174	1848/2172	616/723	N/K	aaC/aaA		1		-1	DLL1	HGNC	HGNC:2908	protein_coding	YES	CCDS5313.1	ENSP00000355718	O00548		UPI000004C656	NM_005618.3	deleterious(0)		9/11																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	170283431	170283431	G	T	1	0	0	0	0	1	0	0	0	4373	1368	48	2		2	DLL1	6	170283431	Missense_Mutation	SNP	G	11LU016_TP	2243243	170283431	522548	197	253											
PRKAR1B	0	.	GRCh38	chr7	711475	711475	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccttcaggctctcgtcctCctccgaggggcaggcgggcg	3	7	15	16	4	2	0	1	0	1	0	6	1	5	0	4	5	0	2	4	5	0	1	novel		11LU016_TP	11LU016_NB	C	C																c.31G>T	p.Glu11Ter	p.E11*	ENST00000406797	2/11	237	217	20	164	163	1	strelka-varscan-mutect	PRKAR1B,stop_gained,p.Glu11Ter,ENST00000406797,NM_001164761.1;PRKAR1B,stop_gained,p.Glu11Ter,ENST00000537384,NM_001164760.1;PRKAR1B,stop_gained,p.Glu11Ter,ENST00000544935,NM_001164759.1,NM_001164762.1;PRKAR1B,stop_gained,p.Glu11Ter,ENST00000360274,NM_002735.2;PRKAR1B,stop_gained,p.Glu11Ter,ENST00000403562,NM_001164758.1;PRKAR1B,stop_gained,p.Glu11Ter,ENST00000430040,;PRKAR1B,stop_gained,p.Glu11Ter,ENST00000417852,;PRKAR1B,stop_gained,p.Glu11Ter,ENST00000456696,;PRKAR1B,non_coding_transcript_exon_variant,,ENST00000488474,;	A	ENST00000406797	Transcript	stop_gained	206/2553	31/1146	11/381	E/*	Gag/Tag		1		-1	PRKAR1B	HGNC	HGNC:9390	protein_coding	YES	CCDS34579.1	ENSP00000385749	P31321		UPI000021C478	NM_001164761.1			2/11		hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF126																	HIGH	1	SNV	1			1										PASS		rs954428465	.												A	4	1	2	711475	711475	C	A	1	0	0	0	0	0	1	0	0	12637	864	30	2		2	PRKAR1B	7	711475	Nonsense_Mutation	SNP	C	11LU016_TP		711475	158634498	198	254											
UNCX	0	.	GRCh38	chr7	1236526	1236526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccacttcctcctctaccCcatcacgcagccgctcggct	5	8	8	20	3	2	0	1	0	1	0	5	0	4	0	6	2	2	3	6	2	1	2	novel		11LU016_TP	11LU016_NB	C	C																c.1145C>A	p.Pro382His	p.P382H	ENST00000316333	3/3	160	117	43	173	173	0	strelka-varscan-mutect	UNCX,missense_variant,p.Pro382His,ENST00000316333,NM_001080461.1;	A	ENST00000316333	Transcript	missense_variant	1256/2048	1145/1596	382/531	P/H	cCc/cAc		1		1	UNCX	HGNC	HGNC:33194	protein_coding	YES	CCDS34583.1	ENSP00000314480	A6NJT0		UPI0000D61BE6	NM_001080461.1	deleterious(0)		3/3																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	1236526	1236526	C	A	1	0	0	0	0	1	0	0	0	17524	623	22	2		2	UNCX	7	1236526	Missense_Mutation	SNP	C	11LU016_TP	525051	1236526	158109447	199	255											
IQCE	0	.	GRCh38	chr7	2594932	2594932	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctccaagaattgcaagaaAtgaagaaagaagagaaagag	22	4	11	4	0	0	7	0	1	0	6	1	8	1	7	1	0	2	2	1	0	8	1	novel		11LU016_TP	11LU016_NB	A	A																c.1396A>G	p.Met466Val	p.M466V	ENST00000476665	16/21	291	266	25	148	148	0	strelka-varscan-mutect	IQCE,missense_variant,p.Met466Val,ENST00000402050,NM_152558.4;IQCE,missense_variant,p.Met401Val,ENST00000623361,NM_001287501.1,NM_001287502.1;IQCE,missense_variant,p.Met466Val,ENST00000476665,NM_001287499.1;IQCE,missense_variant,p.Met450Val,ENST00000611775,NM_001287500.1;IQCE,missense_variant,p.Met401Val,ENST00000325979,;IQCE,missense_variant,p.Met450Val,ENST00000438376,;IQCE,missense_variant,p.Met415Val,ENST00000404984,;IQCE,upstream_gene_variant,,ENST00000423196,;IQCE,downstream_gene_variant,,ENST00000427817,;IQCE,upstream_gene_variant,,ENST00000486730,;IQCE,3_prime_UTR_variant,,ENST00000325997,;IQCE,non_coding_transcript_exon_variant,,ENST00000470731,;IQCE,non_coding_transcript_exon_variant,,ENST00000490913,;	G	ENST00000476665	Transcript	missense_variant	1499/2400	1396/2109	466/702	M/V	Atg/Gtg		1		1	IQCE	HGNC	HGNC:29171	protein_coding	YES	CCDS75559.1	ENSP00000480715		A0A087WX45	UPI0000EE76A1	NM_001287499.1	tolerated(0.35)		16/21		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22590																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	2	2594932	2594932	A	G	1	0	0	0	0	1	0	0	0	7710	101	4	5		5	IQCE	7	2594932	Missense_Mutation	SNP	A	11LU016_TP	1358406	2594932	156751041	200	256											
TTYH3	0	.	GRCh38	chr7	2658307	2658307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgatgaggacggggaGgaggaggccgctccagggcc	7	3	20	11	2	0	2	0	2	0	0	1	6	1	6	4	8	0	1	4	8	0	0	novel		11LU016_TP	11LU016_NB	G	G																c.1272G>T	p.Glu424Asp	p.E424D	ENST00000258796	12/14	79	51	28	48	48	0	strelka-varscan-mutect	TTYH3,missense_variant,p.Glu424Asp,ENST00000258796,NM_025250.2;TTYH3,missense_variant,p.Glu392Asp,ENST00000407643,;TTYH3,missense_variant,p.Glu253Asp,ENST00000403167,;TTYH3,missense_variant,p.Glu84Asp,ENST00000429448,;TTYH3,non_coding_transcript_exon_variant,,ENST00000498454,;	T	ENST00000258796	Transcript	missense_variant	1477/4840	1272/1572	424/523	E/D	gaG/gaT		1		1	TTYH3	HGNC	HGNC:22222	protein_coding	YES	CCDS34588.1	ENSP00000258796	Q9C0H2	A0A024R816	UPI000020E9F9	NM_025250.2	tolerated(0.77)		12/14		Pfam_domain:PF04906,hmmpanther:PTHR12424,hmmpanther:PTHR12424:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	2658307	2658307	G	T	1	0	0	0	0	1	0	0	0	17251	991	35	2		2	TTYH3	7	2658307	Missense_Mutation	SNP	G	11LU016_TP	63375	2658307	156687666	201	257											
SDK1	0	.	GRCh38	chr7	3967409	3967409	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggtgtccggggctccCaaacccgccatcacctggaa	8	7	12	14	2	1	1	1	1	0	0	3	2	3	2	5	4	1	1	5	4	2	0	novel		11LU016_TP	11LU016_NB	C	C																c.1521C>A	p.=	p.P507P	ENST00000404826	10/45	218	190	28	175	175	0	strelka-varscan-mutect	SDK1,synonymous_variant,p.=,ENST00000404826,NM_152744.3;SDK1,synonymous_variant,p.=,ENST00000615806,;SDK1,synonymous_variant,p.=,ENST00000389531,;SDK1,upstream_gene_variant,,ENST00000484011,;	A	ENST00000404826	Transcript	synonymous_variant	1660/10397	1521/6642	507/2213	P	ccC/ccA		1		1	SDK1	HGNC	HGNC:19307	protein_coding	YES	CCDS34590.1	ENSP00000385899	Q7Z5N4		UPI0000DBEEC4	NM_152744.3			10/45		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF36,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	2	3967409	3967409	C	A	1	0	0	0	0	0	0	0	1	14243	581	21	2		2	SDK1	7	3967409	Silent	SNP	C	11LU016_TP	1309102	3967409	155378564	202	258											
SDK1	0	.	GRCh38	chr7	4145863	4145863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctgtccgccaagacgaGgcagggctggggggagccac	8	3	18	12	2	0	1	0	0	0	1	1	3	1	2	3	6	1	3	3	6	1	0			11LU016_TP	11LU016_NB	G	G																c.4370G>T	p.Arg1457Met	p.R1457M	ENST00000404826	29/45	173	143	30	173	173	0	strelka-varscan-mutect	SDK1,missense_variant,p.Arg1457Met,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Arg1457Met,ENST00000615806,;SDK1,missense_variant,p.Arg1457Met,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;	T	ENST00000404826	Transcript	missense_variant	4509/10397	4370/6642	1457/2213	R/M	aGg/aTg	COSM5192792	1		1	SDK1	HGNC	HGNC:19307	protein_coding	YES	CCDS34590.1	ENSP00000385899	Q7Z5N4		UPI0000DBEEC4	NM_152744.3	deleterious(0)		29/45		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF36,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	2	4145863	4145863	G	T	1	0	0	0	0	1	0	0	0	14243	1000	35	2		2	SDK1	7	4145863	Missense_Mutation	SNP	G	11LU016_TP	178454	4145863	155200110	203	259											
MMD2	0	.	GRCh38	chr7	4911210	4911210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagaccagccagcgcatGtgggaggcccaggggcccag	9	3	15	14	1	0	1	0	0	0	1	1	2	1	2	5	4	2	1	5	4	0	0	rs770493219		11LU016_TP	11LU016_NB	G	G																c.402C>A	p.His134Gln	p.H134Q	ENST00000404774	5/7	337	287	50	210	210	0	strelka-varscan-mutect	MMD2,missense_variant,p.His134Gln,ENST00000404774,NM_001100600.1;MMD2,missense_variant,p.His134Gln,ENST00000406755,NM_001270375.1;MMD2,missense_variant,p.His134Gln,ENST00000401401,NM_198403.3;MMD2,missense_variant,p.His134Gln,ENST00000612910,;	T	ENST00000404774	Transcript	missense_variant	597/2415	402/813	134/270	H/Q	caC/caA	rs770493219	1		-1	MMD2	HGNC	HGNC:30133	protein_coding	YES	CCDS47529.1	ENSP00000384690	Q8IY49		UPI000016199F	NM_001100600.1	deleterious(0.05)		5/7		hmmpanther:PTHR20855:SF21,hmmpanther:PTHR20855,Pfam_domain:PF03006																	MODERATE	1	SNV	1			1										PASS		rs770493219	.												T	3	4	2	4911210	4911210	G	T	1	0	0	0	0	1	0	0	0	9607	1368	48	2		2	MMD2	7	4911210	Missense_Mutation	SNP	G	11LU016_TP	765347	4911210	154434763	204	260											
MEOX2	0	.	GRCh38	chr7	15686332	15686333	+	Frame_Shift_Ins	INS	-	-	G																															atggagggcgagagaggattINSgggagaacgggtgcaagcct																								novel		11LU016_TP	11LU016_NB	-	-																c.70dupC	p.Gln24ProfsTer11	p.Q24Pfs*11	ENST00000262041	1/3	247	230	17	154	153	1	varindel-pindel	MEOX2,frameshift_variant,p.Gln24ProfsTer11,ENST00000262041,NM_005924.4;MEOX2-AS1,upstream_gene_variant,,ENST00000442176,;AC005550.5,downstream_gene_variant,,ENST00000438923,;AC005550.3,downstream_gene_variant,,ENST00000451240,;	G	ENST00000262041	Transcript	frameshift_variant	480-481/2500	70-71/915	24/304	Q/PX	caa/cCaa		1		-1	MEOX2	HGNC	HGNC:7014	protein_coding	YES	CCDS34605.1	ENSP00000262041	P50222		UPI000013D247	NM_005924.4			1/3		hmmpanther:PTHR24328,hmmpanther:PTHR24328:SF1																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	2	15686332	15686332	-	G	1	0	1	1	0	0	0	0	0	9419	1812	63	0		0	MEOX2	7	15686332	Frame_Shift_Ins	INS	-	11LU016_TP	10775122	15686332	143659641	205	261											
HDAC9	0	.	GRCh38	chr7	18835473	18835473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatttccctgtaggatgttCaccatggaaacggtacccag	10	11	9	11	1	2	0	2	0	0	0	3	2	3	2	3	3	2	3	3	3	3	4	novel		11LU016_TP	11LU016_NB	C	C																c.2473C>T	p.His825Tyr	p.H825Y	ENST00000441542	19/25	103	91	12	74	74	0	strelka-varscan-mutect	HDAC9,missense_variant,p.His822Tyr,ENST00000406451,NM_001321897.1,NM_178423.1;HDAC9,missense_variant,p.His781Tyr,ENST00000401921,;HDAC9,missense_variant,p.His825Tyr,ENST00000441542,NM_178425.2;HDAC9,missense_variant,p.His822Tyr,ENST00000432645,NM_058176.2;HDAC9,upstream_gene_variant,,ENST00000483142,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,non_coding_transcript_exon_variant,,ENST00000490851,;	T	ENST00000441542	Transcript	missense_variant	2473/3210	2473/3210	825/1069	H/Y	Cac/Tac		1		1	HDAC9	HGNC	HGNC:14065	protein_coding	YES	CCDS47553.1	ENSP00000408617	Q9UKV0		UPI000019AB75	NM_178425.2	deleterious(0)		19/25		hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF136,Gene3D:3.40.800.20,Pfam_domain:PF00850,PIRSF_domain:PIRSF037911,Superfamily_domains:SSF52768,Prints_domain:PR01270																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	18835473	18835473	C	T	1	0	0	0	0	1	0	0	0	6901	826	29	3		3	HDAC9	7	18835473	Missense_Mutation	SNP	C	11LU016_TP	3149141	18835473	140510500	206	262											
ITGB8	0	.	GRCh38	chr7	20379266	20379266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcaccatacattagcAtccaccccgaaaggattcat	13	10	5	13	1	2	0	2	0	0	0	3	2	3	1	4	1	2	2	4	1	3	4	novel		11LU016_TP	11LU016_NB	A	A																c.604A>G	p.Ile202Val	p.I202V	ENST00000222573	4/14	180	149	31	118	116	2	strelka-varscan-mutect	ITGB8,missense_variant,p.Ile202Val,ENST00000222573,NM_002214.2;ITGB8,missense_variant,p.Ile67Val,ENST00000537992,;SNORD56,downstream_gene_variant,,ENST00000363883,;ITGB8,non_coding_transcript_exon_variant,,ENST00000477859,;ITGB8,non_coding_transcript_exon_variant,,ENST00000478974,;	G	ENST00000222573	Transcript	missense_variant	1288/8751	604/2310	202/769	I/V	Atc/Gtc		1		1	ITGB8	HGNC	HGNC:6163	protein_coding	YES	CCDS5370.1	ENSP00000222573	P26012		UPI000012DA14	NM_002214.2	tolerated(0.92)		4/14		hmmpanther:PTHR10082:SF9,hmmpanther:PTHR10082,Gene3D:3.40.50.410,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Superfamily_domains:SSF53300,Prints_domain:PR01186																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	20379266	20379266	A	G	1	0	0	0	0	1	0	0	0	7807	217	8	5		5	ITGB8	7	20379266	Missense_Mutation	SNP	A	11LU016_TP	1543793	20379266	138966707	207	263											
RAPGEF5	0	.	GRCh38	chr7	22160606	22160606	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacatcatccagtacattccTatatatggtctggagaaaaa	16	11	6	8	0	2	1	1	0	1	1	4	2	4	1	2	2	2	1	2	2	7	5	novel		11LU016_TP	11LU016_NB	T	T																c.979A>G	p.Arg327Gly	p.R327G	ENST00000344041	14/26	96	75	21	66	66	0	strelka-varscan-mutect	RAPGEF5,missense_variant,p.Arg327Gly,ENST00000344041,NM_012294.3;RAPGEF5,missense_variant,p.Arg177Gly,ENST00000401957,;RAPGEF5,missense_variant,p.Arg177Gly,ENST00000620335,;RAPGEF5,missense_variant,p.Arg65Gly,ENST00000458533,;RAPGEF5,3_prime_UTR_variant,,ENST00000451559,;	C	ENST00000344041	Transcript	missense_variant	1292/6621	979/2193	327/730	R/G	Agg/Ggg		1		-1	RAPGEF5	HGNC	HGNC:16862	protein_coding	YES	CCDS55093.1	ENSP00000343656		A8MQ07	UPI0000EA87E4	NM_012294.3	tolerated(0.34)		14/26		PROSITE_profiles:PS50212,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF26,Gene3D:2ii0A01,SMART_domains:SM00229,Superfamily_domains:0041591																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	2	22160606	22160606	T	C	1	0	0	0	0	1	0	0	0	13206	1521	53	5		5	RAPGEF5	7	22160606	Missense_Mutation	SNP	T	11LU016_TP	1781340	22160606	137185367	208	264											
IL6	0	.	GRCh38	chr7	22729554	22729554	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcactggtcttttggagtTtgaggtatacctagagtacc	9	14	10	8	0	2	2	1	1	1	1	2	3	2	3	2	3	2	3	2	3	4	7	novel		11LU016_TP	11LU016_NB	T	T																c.365T>C	p.Phe122Ser	p.F122S	ENST00000404625	5/6	195	177	18	135	135	0	varscan-mutect	IL6,missense_variant,p.Phe122Ser,ENST00000404625,;IL6,missense_variant,p.Phe122Ser,ENST00000258743,NM_000600.3;IL6,missense_variant,p.Phe46Ser,ENST00000407492,NM_001318095.1;IL6,missense_variant,p.Phe99Ser,ENST00000401630,;IL6,missense_variant,p.Phe122Ser,ENST00000406575,;IL6,missense_variant,p.Phe122Ser,ENST00000426291,;IL6,missense_variant,p.Phe46Ser,ENST00000401651,;AC073072.5,upstream_gene_variant,,ENST00000325042,;IL6,non_coding_transcript_exon_variant,,ENST00000485300,;IL6,non_coding_transcript_exon_variant,,ENST00000464710,;	C	ENST00000404625	Transcript	missense_variant	824/1527	365/639	122/212	F/S	tTt/tCt		1		1	IL6	HGNC	HGNC:6018	protein_coding	YES	CCDS5375.1	ENSP00000385675	P05231	Q75MH2	UPI000002C4A6		deleterious(0)		5/6		hmmpanther:PTHR11457:SF0,hmmpanther:PTHR11457,PROSITE_patterns:PS00254,PIRSF_domain:PIRSF001935,Pfam_domain:PF00489,Gene3D:1.20.1250.10,SMART_domains:SM00126,Superfamily_domains:SSF47266,Prints_domain:PR00433,Prints_domain:PR00434																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	2	22729554	22729554	T	C	1	0	0	0	0	1	0	0	0	7605	1841	64	5		5	IL6	7	22729554	Missense_Mutation	SNP	T	11LU016_TP	568948	22729554	136616419	209	265											
HOXA3	0	.	GRCh38	chr7	27107970	27107970	+	Missense_Mutation	SNP	C	C	T																															ttccctgagaaggatggtggCcggtaaggtccgtgtaggtg																								novel		11LU016_TP	11LU016_NB	C	C																c.1277G>A	p.Gly426Asp	p.G426D	ENST00000612286	4/4	97	63	34	73	73	0	strelka-varscan-mutect	HOXA3,missense_variant,p.Gly426Asp,ENST00000612286,NM_153631.2;HOXA3,missense_variant,p.Gly426Asp,ENST00000396352,NM_030661.4;HOXA3,missense_variant,p.Gly426Asp,ENST00000317201,;HOXA3,downstream_gene_variant,,ENST00000522788,;HOXA3,downstream_gene_variant,,ENST00000522456,;HOXA-AS2,intron_variant,,ENST00000518088,;HOXA3,downstream_gene_variant,,ENST00000521401,;	T	ENST00000612286	Transcript	missense_variant	1616/3396	1277/1332	426/443	G/D	gGc/gAc		1		-1	HOXA3	HGNC	HGNC:5104	protein_coding	YES	CCDS5404.1	ENSP00000484411	O43365	A0A024RA33	UPI000012CF22	NM_153631.2	deleterious(0.01)		4/4		Pfam_domain:PF13293,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF137																	MODERATE	1	SNV	2			1										PASS		rs1166189290	.												T	3	4	2	27107970	27107970	C	T	1	0	0	0	0	1	0	0	0	7187	739	26	3		3	HOXA3	7	27107970	Missense_Mutation	SNP	C	11LU016_TP	4378416	27107970	132238003	210	266	5	2									
HOXA3	0	.	GRCh38	chr7	27107971	27107971	+	Missense_Mutation	SNP	C	C	A																															tccctgagaaggatggtggcCggtaaggtccgtgtaggtgg																								novel		11LU016_TP	11LU016_NB	C	C																c.1276G>T	p.Gly426Cys	p.G426C	ENST00000612286	4/4	98	64	34	73	73	0	strelka-varscan-mutect	HOXA3,missense_variant,p.Gly426Cys,ENST00000612286,NM_153631.2;HOXA3,missense_variant,p.Gly426Cys,ENST00000396352,NM_030661.4;HOXA3,missense_variant,p.Gly426Cys,ENST00000317201,;HOXA3,downstream_gene_variant,,ENST00000522788,;HOXA3,downstream_gene_variant,,ENST00000522456,;HOXA-AS2,intron_variant,,ENST00000518088,;HOXA3,downstream_gene_variant,,ENST00000521401,;	A	ENST00000612286	Transcript	missense_variant	1615/3396	1276/1332	426/443	G/C	Ggc/Tgc		1		-1	HOXA3	HGNC	HGNC:5104	protein_coding	YES	CCDS5404.1	ENSP00000484411	O43365	A0A024RA33	UPI000012CF22	NM_153631.2	deleterious(0.01)		4/4		Pfam_domain:PF13293,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF137																	MODERATE	1	SNV	2			1										PASS		rs1483717034	.												A	3	1	2	27107971	27107971	C	A	1	0	0	0	0	1	0	0	0	7187	652	23	1		1	HOXA3	7	27107971	Missense_Mutation	SNP	C	11LU016_TP	1	27107971	132238002	211	267	5	2									
INMT	0	.	GRCh38	chr7	30755589	30755589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagccttgatgcctaccGcgctgccctgtgcaaccttg	5	11	10	15	2	0	1	0	1	0	0	0	1	0	1	5	0	6	3	5	0	3	4	novel		11LU016_TP	11LU016_NB	G	G																c.530G>T	p.Arg177Leu	p.R177L	ENST00000013222	3/3	299	239	60	202	202	0	strelka-varscan-mutect	INMT,missense_variant,p.Arg177Leu,ENST00000013222,NM_006774.4;INMT,missense_variant,p.Arg176Leu,ENST00000409539,NM_001199219.1;INMT,non_coding_transcript_exon_variant,,ENST00000484180,;INMT-FAM188B,intron_variant,,ENST00000458257,;INMT-FAM188B,intron_variant,,ENST00000451002,;	T	ENST00000013222	Transcript	missense_variant	546/2559	530/792	177/263	R/L	cGc/cTc		1		1	INMT	HGNC	HGNC:6069	protein_coding	YES	CCDS5430.1	ENSP00000013222	O95050		UPI000013C526	NM_006774.4	deleterious(0.01)		3/3		Gene3D:3.40.50.150,Pfam_domain:PF01234,PIRSF_domain:PIRSF000384,PROSITE_profiles:PS51681,hmmpanther:PTHR10867,hmmpanther:PTHR10867:SF6,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		rs996421042	.												T	3	4	2	30755589	30755589	G	T	1	0	0	0	0	1	0	0	0	7648	1087	38	1		1	INMT	7	30755589	Missense_Mutation	SNP	G	11LU016_TP	3647618	30755589	128590384	212	268											
PPP1R17	0	.	GRCh38	chr7	31697072	31697072	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctggaacagaaaaagccaAggagaaaagacacacctgcc	19	2	9	11	0	0	3	0	0	0	3	0	5	0	4	4	2	3	0	4	2	6	0	novel		11LU016_TP	11LU016_NB	A	A																c.343A>T	p.Arg115Trp	p.R115W	ENST00000342032	4/5	245	207	38	149	149	0	strelka-varscan-mutect	PPP1R17,missense_variant,p.Arg115Trp,ENST00000342032,NM_006658.4;PPP1R17,missense_variant,p.Arg64Trp,ENST00000409146,NM_001145123.2;PPP1R17,non_coding_transcript_exon_variant,,ENST00000498609,;	T	ENST00000342032	Transcript	missense_variant	971/2268	343/468	115/155	R/W	Agg/Tgg		1		1	PPP1R17	HGNC	HGNC:16973	protein_coding	YES	CCDS5436.1	ENSP00000340125	O96001	A0A090N8N7	UPI000006D182	NM_006658.4	deleterious_low_confidence(0)		4/5		hmmpanther:PTHR15387,hmmpanther:PTHR15387:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	31697072	31697072	A	T	1	0	0	0	0	1	0	0	0	12477	63	3	4		4	PPP1R17	7	31697072	Missense_Mutation	SNP	A	11LU016_TP	941483	31697072	127648901	213	269											
HERPUD2	0	.	GRCh38	chr7	35634346	35634346	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaagttgtttgcattttgcCcatcattgttaacttcggca	8	16	7	10	1	1	0	1	0	0	0	2	0	1	0	2	1	3	5	2	1	2	7	novel		11LU016_TP	11LU016_NB	C	C																c.1025G>T	p.Gly342Val	p.G342V	ENST00000396081	7/8	238	196	42	124	124	0	strelka-varscan-mutect	HERPUD2,missense_variant,p.Gly342Val,ENST00000396081,NM_022373.4;HERPUD2,missense_variant,p.Gly342Val,ENST00000311350,;HERPUD2,downstream_gene_variant,,ENST00000438224,;HERPUD2,downstream_gene_variant,,ENST00000413517,;HERPUD2,non_coding_transcript_exon_variant,,ENST00000426180,;	A	ENST00000396081	Transcript	missense_variant	1830/3057	1025/1221	342/406	G/V	gGg/gTg		1		-1	HERPUD2	HGNC	HGNC:21915	protein_coding	YES	CCDS5446.1	ENSP00000379390	Q9BSE4	A0A024RA77	UPI000013F159	NM_022373.4	tolerated(0.32)		7/8		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12943,hmmpanther:PTHR12943:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	35634346	35634346	C	A	1	0	0	0	0	1	0	0	0	6948	623	22	2		2	HERPUD2	7	35634346	Missense_Mutation	SNP	C	11LU016_TP	3937274	35634346	123711627	214	270											
AOAH	0	.	GRCh38	chr7	36632080	36632080	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccaaaaccgggagtgaacaAatgtcagaaccacttctaga	16	6	9	10	1	2	3	1	1	1	2	2	4	2	4	3	1	3	0	3	1	6	2	novel		11LU016_TP	11LU016_NB	A	A																c.477T>C	p.=	p.I159I	ENST00000617267	6/22	155	108	47	138	138	0	strelka-varscan-mutect	AOAH,synonymous_variant,p.=,ENST00000617267,NM_001177506.1;AOAH,synonymous_variant,p.=,ENST00000617537,NM_001637.3;AOAH,synonymous_variant,p.=,ENST00000612871,NM_001177507.1;AOAH,non_coding_transcript_exon_variant,,ENST00000543742,;	G	ENST00000617267	Transcript	synonymous_variant	778/2398	477/2067	159/688	I	atT/atC		1		-1	AOAH	HGNC	HGNC:548	protein_coding	YES	CCDS75584.1	ENSP00000479664		A0A087WVT3	UPI0001D043BB	NM_001177506.1			6/22		hmmpanther:PTHR15010																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	2	36632080	36632080	A	G	1	0	0	0	0	0	0	0	1	835	10	1	5		5	AOAH	7	36632080	Silent	SNP	A	11LU016_TP	997734	36632080	122713893	215	271											
DDX56	0	.	GRCh38	chr7	44570807	44570807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgcccttgactggggcccCcaggacttcagcatcagttg	6	10	11	14	0	2	1	2	1	0	0	2	2	2	2	3	3	2	2	3	3	0	4	novel		11LU016_TP	11LU016_NB	C	C																c.961G>T	p.Gly321Trp	p.G321W	ENST00000258772	7/14	223	158	65	197	197	0	strelka-varscan-mutect	DDX56,missense_variant,p.Gly321Trp,ENST00000258772,NM_019082.3;DDX56,intron_variant,,ENST00000431640,NM_001257189.1;DDX56,upstream_gene_variant,,ENST00000448192,;DDX56,non_coding_transcript_exon_variant,,ENST00000485367,;DDX56,non_coding_transcript_exon_variant,,ENST00000467318,;DDX56,upstream_gene_variant,,ENST00000479602,;DDX56,missense_variant,p.Gly321Trp,ENST00000421223,;DDX56,missense_variant,p.Gly275Trp,ENST00000433257,;DDX56,3_prime_UTR_variant,,ENST00000446987,;DDX56,3_prime_UTR_variant,,ENST00000415758,;DDX56,downstream_gene_variant,,ENST00000479440,;DDX56,upstream_gene_variant,,ENST00000473924,;	A	ENST00000258772	Transcript	missense_variant	1068/2336	961/1644	321/547	G/W	Ggg/Tgg		1		-1	DDX56	HGNC	HGNC:18193	protein_coding	YES	CCDS5492.1	ENSP00000258772	Q9NY93		UPI0000037BB1	NM_019082.3	deleterious(0.01)		7/14		Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,SMART_domains:SM00490																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	44570807	44570807	C	A	1	0	0	0	0	1	0	0	0	4177	623	22	2		2	DDX56	7	44570807	Missense_Mutation	SNP	C	11LU016_TP	7938727	44570807	114775166	216	272											
ADCY1	0	.	GRCh38	chr7	45678172	45678172	+	Missense_Mutation	SNP	C	C	A																															tctctcttacacagtaccacCagcttcaggacgagtatttc																								novel		11LU016_TP	11LU016_NB	C	C																c.1807C>A	p.Gln603Lys	p.Q603K	ENST00000297323	10/20	260	239	21	187	187	0	strelka-varscan-mutect	ADCY1,missense_variant,p.Gln603Lys,ENST00000297323,NM_021116.2;	A	ENST00000297323	Transcript	missense_variant	1829/12503	1807/3360	603/1119	Q/K	Cag/Aag		1		1	ADCY1	HGNC	HGNC:232	protein_coding	YES	CCDS34631.1	ENSP00000297323	Q08828		UPI0000199C4A	NM_021116.2	tolerated(0.37)		10/20		hmmpanther:PTHR11920:SF336,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	45678172	45678172	C	A	1	0	0	0	0	1	0	0	0	336	595	21	2		2	ADCY1	7	45678172	Missense_Mutation	SNP	C	11LU016_TP	1107365	45678172	113667801	217	273	6	2									
ADCY1	0	.	GRCh38	chr7	45678173	45678173	+	Missense_Mutation	SNP	A	A	G																															ctctcttacacagtaccaccAgcttcaggacgagtatttca																								novel		11LU016_TP	11LU016_NB	A	A																c.1808A>G	p.Gln603Arg	p.Q603R	ENST00000297323	10/20	266	244	22	190	190	0	strelka-varscan-mutect	ADCY1,missense_variant,p.Gln603Arg,ENST00000297323,NM_021116.2;	G	ENST00000297323	Transcript	missense_variant	1830/12503	1808/3360	603/1119	Q/R	cAg/cGg		1		1	ADCY1	HGNC	HGNC:232	protein_coding	YES	CCDS34631.1	ENSP00000297323	Q08828		UPI0000199C4A	NM_021116.2	tolerated(0.13)		10/20		hmmpanther:PTHR11920:SF336,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	45678173	45678173	A	G	1	0	0	0	0	1	0	0	0	336	188	7	5		5	ADCY1	7	45678173	Missense_Mutation	SNP	A	11LU016_TP	1	45678173	113667800	218	274	6	2									
ZPBP	0	.	GRCh38	chr7	50081807	50081807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctttaggcccataccattGgaatgatgggtctatcagtt	9	14	9	9	0	2	1	1	1	1	0	3	2	3	2	3	3	1	1	3	3	4	6			11LU016_TP	11LU016_NB	G	G																c.301C>A	p.Gln101Lys	p.Q101K	ENST00000046087	3/8	486	454	32	286	285	1	strelka-varscan-mutect	ZPBP,missense_variant,p.Gln101Lys,ENST00000046087,NM_007009.2;ZPBP,missense_variant,p.Gln101Lys,ENST00000419417,NM_001159878.1;ZPBP,missense_variant,p.Gln62Lys,ENST00000450231,;ZPBP,downstream_gene_variant,,ENST00000413331,;	T	ENST00000046087	Transcript	missense_variant	371/1213	301/1056	101/351	Q/K	Caa/Aaa	COSM3639470	1		-1	ZPBP	HGNC	HGNC:15662	protein_coding	YES	CCDS5509.1	ENSP00000046087	Q9BS86		UPI0000073BD0	NM_007009.2	tolerated(0.32)		3/8		Gene3D:2.60.40.10,Pfam_domain:PF07354,PROSITE_profiles:PS50835,hmmpanther:PTHR15443,hmmpanther:PTHR15443:SF5,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	2	50081807	50081807	G	T	1	0	0	0	0	1	0	0	0	18811	1357	47	2		2	ZPBP	7	50081807	Missense_Mutation	SNP	G	11LU016_TP	4403634	50081807	109264166	219	275											
IKZF1	0	.	GRCh38	chr7	50400527	50400527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggctgccacggcttccGtgatccttttgagtgcaaca	7	11	11	12	2	0	2	0	2	0	0	2	2	2	2	3	2	3	3	3	2	1	3			11LU016_TP	11LU016_NB	G	G																c.1460G>A	p.Arg487His	p.R487H	ENST00000331340	8/8	281	186	95	322	321	1	strelka-varscan-mutect	IKZF1,missense_variant,p.Arg487His,ENST00000331340,NM_006060.5;IKZF1,missense_variant,p.Arg400His,ENST00000343574,NM_001291839.1,NM_001220767.2,NM_001291841.1;IKZF1,missense_variant,p.Arg400His,ENST00000357364,NM_001220768.2;IKZF1,missense_variant,p.Arg344His,ENST00000349824,NM_001220771.2;IKZF1,missense_variant,p.Arg304His,ENST00000615491,;IKZF1,missense_variant,p.Arg262His,ENST00000440768,;IKZF1,missense_variant,p.Arg217His,ENST00000346667,;IKZF1,missense_variant,p.Arg445His,ENST00000439701,NM_001291837.1;IKZF1,missense_variant,p.Arg445His,ENST00000359197,NM_001220765.2;IKZF1,missense_variant,p.Arg400His,ENST00000438033,NM_001291838.1;IKZF1,missense_variant,p.Arg236His,ENST00000612658,;IKZF1,downstream_gene_variant,,ENST00000426121,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;	A	ENST00000331340	Transcript	missense_variant	1615/6189	1460/1560	487/519	R/H	cGt/cAt	COSM5313026	1		1	IKZF1	HGNC	HGNC:13176	protein_coding	YES	CCDS75596.1	ENSP00000331614	Q13422		UPI000012D465	NM_006060.5	deleterious(0.03)		8/8		hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF36,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	2	50400527	50400527	G	A	1	0	0	0	0	1	0	0	0	7522	1145	40	1		1	IKZF1	7	50400527	Missense_Mutation	SNP	G	11LU016_TP	318720	50400527	108945446	220	276											
EGFR	0	.	GRCh38	chr7	55174014	55174014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaaaaagatcaaagtgctgGgctccggtgcgttcggcacg	10	8	13	10	4	2	1	2	0	0	1	4	1	3	1	1	3	2	4	1	3	3	1	rs28929495		11LU016_TP	11LU016_NB	G	G																c.2155G>T	p.Gly719Cys	p.G719C	ENST00000275493	18/28	483	321	162	368	367	1	strelka-varscan-mutect	EGFR,missense_variant,p.Gly719Cys,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Gly674Cys,ENST00000454757,;EGFR,missense_variant,p.Gly674Cys,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;	T	ENST00000275493	Transcript	missense_variant	2332/9821	2155/3633	719/1210	G/C	Ggc/Tgc	rs28929495,COSM6252,COSM6253	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		18/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										likely_pathogenic,pathogenic,drug_response	0,1,1	1795663724712396					MODERATE	1	SNV	1		1,1,1	1										PASS		rs28929495	.												T	3	4	2	55174014	55174014	G	T	1	0	0	0	0	1	0	0	0	4803	1232	43	2		2	EGFR	7	55174014	Missense_Mutation	SNP	G	11LU016_TP	4773487	55174014	104171959	221	277											
EGFR	0	.	GRCh38	chr7	55181312	55181312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcctacgtgatggccaGcgtggacaacccccacgtgt	9	6	13	13	3	0	1	0	1	0	0	0	3	0	3	4	3	4	0	4	3	3	1	rs121913465		11LU016_TP	11LU016_NB	G	G																c.2303G>T	p.Ser768Ile	p.S768I	ENST00000275493	20/28	344	241	103	244	243	1	strelka-varscan-mutect	EGFR,missense_variant,p.Ser768Ile,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ser723Ile,ENST00000454757,;EGFR,missense_variant,p.Ser723Ile,ENST00000455089,;EGFR-AS1,non_coding_transcript_exon_variant,,ENST00000442411,;	T	ENST00000275493	Transcript	missense_variant	2480/9821	2303/3633	768/1210	S/I	aGc/aTc	rs121913465,COSM12989,COSM291998,COSM6241	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		20/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										pathogenic	0,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs146024686	.												T	3	4	2	55181312	55181312	G	T	1	0	0	0	0	1	0	0	0	4803	971	34	2		2	EGFR	7	55181312	Missense_Mutation	SNP	G	11LU016_TP	7298	55181312	104164661	222	278											
LANCL2	0	.	GRCh38	chr7	55399978	55399978	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcagctccagagatcGgttgtctgccaagaatcaga	10	11	10	10	1	2	3	1	0	1	3	4	4	3	3	2	1	3	3	2	1	2	3	rs532941386		11LU016_TP	11LU016_NB	G	G																c.552G>T	p.=	p.S184S	ENST00000254770	4/9	197	154	43	86	86	0	strelka-varscan-mutect	LANCL2,synonymous_variant,p.=,ENST00000254770,NM_018697.3;LANCL2,non_coding_transcript_exon_variant,,ENST00000486376,;LANCL2,3_prime_UTR_variant,,ENST00000452107,;	T	ENST00000254770	Transcript	synonymous_variant	1130/4353	552/1353	184/450	S	tcG/tcT	rs532941386	1		1	LANCL2	HGNC	HGNC:6509	protein_coding	YES	CCDS5517.1	ENSP00000254770	Q9NS86		UPI000006F7D0	NM_018697.3			4/9		Superfamily_domains:0053930,Pfam_domain:PF05147,hmmpanther:PTHR12736,hmmpanther:PTHR12736:SF11,SMART_domains:SM01260																	LOW	1	SNV	1			1										PASS		rs532941386	.												T	2	4	2	55399978	55399978	G	T	1	0	0	0	0	0	0	0	1	8531	1103	39	1		1	LANCL2	7	55399978	Silent	SNP	G	11LU016_TP	218666	55399978	103945995	223	279											
WBSCR28	0	.	GRCh38	chr7	73865286	73865286	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggagcagctgggcctGtctgtggccatctggacaga	6	8	16	11	0	2	1	0	0	2	1	2	3	2	3	3	4	2	2	3	4	0	0	novel		11LU016_TP	11LU016_NB	G	G																c.366G>T	p.=	p.L122L	ENST00000320531	2/3	318	278	40	297	297	0	strelka-varscan-mutect	WBSCR28,synonymous_variant,p.=,ENST00000320531,NM_182504.3;WBSCR28,3_prime_UTR_variant,,ENST00000426490,;	T	ENST00000320531	Transcript	synonymous_variant	402/854	366/798	122/265	L	ctG/ctT		1		1	WBSCR28	HGNC	HGNC:23018	protein_coding	YES	CCDS43597.1	ENSP00000316775	Q6UE05		UPI00001408E5	NM_182504.3			2/3		hmmpanther:PTHR37369,Pfam_domain:PF15164																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	73865286	73865286	G	T	1	0	0	0	0	0	0	0	1	17826	1364	48	2		2	WBSCR28	7	73865286	Silent	SNP	G	11LU016_TP	18465308	73865286	85480687	224	280											
PCLO	0	.	GRCh38	chr7	82915481	82915481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgtttttcaagtgtgaGtctactgatgctatacttct	7	19	8	7	0	3	2	1	2	2	0	3	2	3	2	0	0	4	3	0	0	4	7			11LU016_TP	11LU016_NB	G	G																c.12505C>A	p.Leu4169Ile	p.L4169I	ENST00000333891	7/25	242	229	13	161	161	0	strelka-varscan-mutect	PCLO,missense_variant,p.Leu4169Ile,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Leu4169Ile,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Leu889Ile,ENST00000437081,;	T	ENST00000333891	Transcript	missense_variant	12843/20329	12505/15429	4169/5142	L/I	Ctc/Atc	COSM4828023,COSM4828024,COSM4828025	1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	deleterious(0.05)		7/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113											1,1,1						MODERATE	1	SNV	2		1,1,1	1										PASS		.	.												T	3	4	2	82915481	82915481	G	T	1	0	0	0	0	1	0	0	0	11671	1029	36	2		2	PCLO	7	82915481	Missense_Mutation	SNP	G	11LU016_TP	9050195	82915481	76430492	225	281											
PCLO	0	.	GRCh38	chr7	82949643	82949643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtggacttatatcatCagggaggggtttttcataag	9	16	11	5	0	4	0	3	0	1	0	4	2	4	2	0	4	0	1	0	4	3	6	rs765735557		11LU016_TP	11LU016_NB	C	C																c.10945G>T	p.Asp3649Tyr	p.D3649Y	ENST00000333891	6/25	196	171	25	152	151	1	strelka-varscan-mutect	PCLO,missense_variant,p.Asp3649Tyr,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Asp3649Tyr,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Asp369Tyr,ENST00000437081,;	A	ENST00000333891	Transcript	missense_variant	11283/20329	10945/15429	3649/5142	D/Y	Gat/Tat	rs765735557	1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	deleterious(0.03)		6/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	MODERATE	1	SNV	2			1										PASS		rs765735557	.												A	3	1	2	82949643	82949643	C	A	1	0	0	0	0	1	0	0	0	11671	826	29	2		2	PCLO	7	82949643	Missense_Mutation	SNP	C	11LU016_TP	34162	82949643	76396330	226	282											
SEMA3E	0	.	GRCh38	chr7	83400114	83400114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggttatattttccatctGtttttaccaatattggtttt	8	22	5	6	0	2	0	1	0	1	0	3	0	3	0	2	2	1	3	2	2	5	11	novel		11LU016_TP	11LU016_NB	G	G																c.1280C>T	p.Thr427Ile	p.T427I	ENST00000307792	11/17	562	516	46	388	388	0	strelka-varscan-mutect	SEMA3E,missense_variant,p.Thr427Ile,ENST00000307792,NM_012431.2;SEMA3E,missense_variant,p.Thr367Ile,ENST00000427262,NM_001178129.1;	A	ENST00000307792	Transcript	missense_variant	1748/6476	1280/2328	427/775	T/I	aCa/aTa		1		-1	SEMA3E	HGNC	HGNC:10727	protein_coding	YES	CCDS34674.1	ENSP00000303212	O15041		UPI0000135A68	NM_012431.2	tolerated(0.17)		11/17		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	83400114	83400114	G	A	1	0	0	0	0	1	0	0	0	14304	1377	48	3		3	SEMA3E	7	83400114	Missense_Mutation	SNP	G	11LU016_TP	450471	83400114	75945859	227	283											
KIAA1324L	0	.	GRCh38	chr7	86897581	86897581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagggcaagcttcagcactCtcccacaggaaatagaacgt	14	6	10	11	1	2	2	1	0	1	2	3	3	2	3	1	2	3	3	1	2	4	2			11LU016_TP	11LU016_NB	C	C																c.2610G>A	p.=	p.E870E	ENST00000450689	19/22	216	160	56	167	167	0	strelka-varscan-mutect	KIAA1324L,synonymous_variant,p.=,ENST00000450689,NM_001142749.2;KIAA1324L,synonymous_variant,p.=,ENST00000444627,;KIAA1324L,synonymous_variant,p.=,ENST00000416314,NM_152748.3,NM_001291990.1;KIAA1324L,synonymous_variant,p.=,ENST00000423294,;KIAA1324L,3_prime_UTR_variant,,ENST00000394714,;KIAA1324L,upstream_gene_variant,,ENST00000480216,;	T	ENST00000450689	Transcript	synonymous_variant	2796/6841	2610/3090	870/1029	E	gaG/gaA	COSM3641846,COSM3641847	1		-1	KIAA1324L	HGNC	HGNC:21945	protein_coding	YES	CCDS47632.1	ENSP00000413445	A8MWY0		UPI000173AA00	NM_001142749.2			19/22		hmmpanther:PTHR22727:SF3,hmmpanther:PTHR22727,Superfamily_domains:SSF50911											1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												T	2	4	2	86897581	86897581	C	T	1	0	0	0	0	0	0	0	1	8112	912	32	3		3	KIAA1324L	7	86897581	Silent	SNP	C	11LU016_TP	3497467	86897581	72448392	228	284											
ZNF804B	0	.	GRCh38	chr7	89336851	89336851	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctctgccccctacagCatttattcctacattgtttg	7	15	5	14	0	2	0	1	0	1	0	3	0	3	0	4	0	5	2	4	0	3	7	novel		11LU016_TP	11LU016_NB	C	C																c.3869C>G	p.Ala1290Gly	p.A1290G	ENST00000333190	4/4	243	155	88	152	152	0	strelka-varscan-mutect	ZNF804B,missense_variant,p.Ala1290Gly,ENST00000333190,NM_181646.3;ZNF804B,missense_variant,p.Ala1207Gly,ENST00000611114,;	G	ENST00000333190	Transcript	missense_variant	4478/4659	3869/4050	1290/1349	A/G	gCa/gGa		1		1	ZNF804B	HGNC	HGNC:21958	protein_coding	YES	CCDS5613.1	ENSP00000329638	A4D1E1		UPI00001A92D2	NM_181646.3	deleterious(0.01)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	89336851	89336851	C	G	1	0	0	0	0	1	0	0	0	18756	710	25	4		4	ZNF804B	7	89336851	Missense_Mutation	SNP	C	11LU016_TP	2439270	89336851	70009122	229	285											
SLC25A13	0	.	GRCh38	chr7	96193125	96193125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcgatggctgtgactctcCcagtcctagcattgtcccgt	6	12	10	13	2	1	1	0	1	1	0	5	2	3	1	3	1	1	2	3	1	1	2	novel		11LU016_TP	11LU016_NB	C	C																c.527G>T	p.Gly176Val	p.G176V	ENST00000416240	6/18	323	291	32	218	218	0	strelka-varscan-mutect	SLC25A13,missense_variant,p.Gly176Val,ENST00000416240,NM_001160210.1;SLC25A13,missense_variant,p.Gly176Val,ENST00000265631,NM_014251.2;SLC25A13,upstream_gene_variant,,ENST00000484495,;SLC25A13,downstream_gene_variant,,ENST00000472162,;	A	ENST00000416240	Transcript	missense_variant	718/3192	527/2031	176/676	G/V	gGg/gTg		1		-1	SLC25A13	HGNC	HGNC:10983	protein_coding	YES	CCDS55130.1	ENSP00000400101	Q9UJS0		UPI0000001663	NM_001160210.1	deleterious(0)		6/18		PROSITE_profiles:PS50222,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	96193125	96193125	C	A	1	0	0	0	0	1	0	0	0	14740	623	22	2		2	SLC25A13	7	96193125	Missense_Mutation	SNP	C	11LU016_TP	6856274	96193125	63152848	230	286											
TECPR1	0	.	GRCh38	chr7	98236809	98236809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagctgccagagtgtgacCggtcacactctcgggccgcg	7	6	14	14	5	2	2	1	1	1	1	3	3	2	2	3	2	2	1	3	2	0	0	rs757002726		11LU016_TP	11LU016_NB	C	C																c.1148G>C	p.Arg383Pro	p.R383P	ENST00000447648	10/26	241	225	16	221	221	0	strelka-varscan-mutect	TECPR1,missense_variant,p.Arg383Pro,ENST00000447648,NM_015395.2;TECPR1,non_coding_transcript_exon_variant,,ENST00000471397,;TECPR1,upstream_gene_variant,,ENST00000490842,;TECPR1,downstream_gene_variant,,ENST00000463648,;	G	ENST00000447648	Transcript	missense_variant	1448/6564	1148/3498	383/1165	R/P	cGg/cCg	rs757002726	1		-1	TECPR1	HGNC	HGNC:22214	protein_coding	YES	CCDS47648.1	ENSP00000404923	Q7Z6L1		UPI0000161940	NM_015395.2	deleterious(0.02)		10/26		hmmpanther:PTHR23250,hmmpanther:PTHR23250:SF1																	MODERATE	1	SNV	1			1										PASS		rs757002726	.												G	3	3	2	98236809	98236809	C	G	1	0	0	0	0	1	0	0	0	16154	652	23	4		4	TECPR1	7	98236809	Missense_Mutation	SNP	C	11LU016_TP	2043684	98236809	61109164	231	287											
ZAN	0	.	GRCh38	chr7	100750707	100750707	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgagccggcccttctgcgcCccaggtgacatctgcgtgga	5	8	14	14	3	2	2	0	2	2	0	2	3	2	3	4	3	3	0	4	3	0	1	novel		11LU016_TP	11LU016_NB	C	C																c.1332C>A	p.=	p.A444A	ENST00000613979	12/48	339	305	34	293	293	0	strelka-varscan-mutect	ZAN,synonymous_variant,p.=,ENST00000613979,NM_003386.2;ZAN,synonymous_variant,p.=,ENST00000618565,;ZAN,synonymous_variant,p.=,ENST00000620596,NM_173059.2;ZAN,synonymous_variant,p.=,ENST00000546292,;ZAN,synonymous_variant,p.=,ENST00000542585,;ZAN,synonymous_variant,p.=,ENST00000538115,;ZAN,synonymous_variant,p.=,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,;	A	ENST00000613979	Transcript	synonymous_variant	1497/8669	1332/8439	444/2812	A	gcC/gcA		1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.2			12/48		Pfam_domain:PF00629,PROSITE_patterns:PS00740,PROSITE_profiles:PS50060,SMART_domains:SM00137,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		rs1438768116	.												A	2	1	2	100750707	100750707	C	A	1	0	0	0	0	0	0	0	1	18074	610	22	2		2	ZAN	7	100750707	Silent	SNP	C	11LU016_TP	2513898	100750707	58595266	232	288											
ZAN	0	.	GRCh38	chr7	100773283	100773283	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaatgctctcattttctttAgctatgaggtgcccacctgg	7	15	8	11	0	2	1	1	1	2	0	3	1	2	1	2	2	3	2	2	2	3	6	novel		11LU016_TP	11LU016_NB	A	A																c.5426-2A>T		p.X1809_splice	ENST00000613979		204	182	22	117	117	0	strelka-varscan-mutect	ZAN,splice_acceptor_variant,,ENST00000613979,NM_003386.2;ZAN,splice_acceptor_variant,,ENST00000618565,;ZAN,splice_acceptor_variant,,ENST00000620596,NM_173059.2;ZAN,splice_acceptor_variant,,ENST00000546292,;ZAN,splice_acceptor_variant,,ENST00000620868,;ZAN,splice_acceptor_variant,,ENST00000542585,;ZAN,splice_acceptor_variant,,ENST00000538115,;ZAN,splice_acceptor_variant,,ENST00000546213,;	T	ENST00000613979	Transcript	splice_acceptor_variant	-/8669	5426/8439	1809/2812				1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.2				29/47																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	2	100773283	100773283	A	T	1	0	0	0	0	0	0	1	0	18074	434	15	4		4	ZAN	7	100773283	Splice_Site	SNP	A	11LU016_TP	22576	100773283	58572690	233	289											
SRPK2	0	.	GRCh38	chr7	105143127	105143127	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccgcctcctctaatccTgttgtttttagtttcacctc	5	17	5	14	1	3	0	2	0	1	0	6	0	5	0	5	0	1	3	5	0	2	6	novel		11LU016_TP	11LU016_NB	T	T																c.1017A>T	p.=	p.T339T	ENST00000393651	10/16	279	225	54	133	132	1	strelka-varscan-mutect	SRPK2,synonymous_variant,p.=,ENST00000357311,NM_182691.2;SRPK2,synonymous_variant,p.=,ENST00000393651,NM_182692.2;SRPK2,synonymous_variant,p.=,ENST00000489828,NM_001278273.1;SRPK2,upstream_gene_variant,,ENST00000477925,;SRPK2,intron_variant,,ENST00000485455,;SRPK2,non_coding_transcript_exon_variant,,ENST00000466917,;	A	ENST00000393651	Transcript	synonymous_variant	1105/3650	1017/2100	339/699	T	acA/acT		1		-1	SRPK2	HGNC	HGNC:11306	protein_coding	YES	CCDS34724.1	ENSP00000377262	P78362		UPI00001A4785	NM_182692.2			10/16		PROSITE_profiles:PS50011,SMART_domains:SM00220																	LOW	1	SNV	2			1										PASS		rs1311516497	.												A	2	1	2	105143127	105143127	T	A	1	0	0	0	0	0	0	0	1	15521	1567	55	4		4	SRPK2	7	105143127	Silent	SNP	T	11LU016_TP	4369844	105143127	54202846	234	290											
COG5	0	.	GRCh38	chr7	107548319	107548319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaattctcgtctgcatCatctgaagaacacctaggaa	12	9	7	13	1	4	2	1	1	3	1	5	3	4	3	3	1	2	1	3	1	5	2			11LU016_TP	11LU016_NB	C	C																c.399G>T	p.Met133Ile	p.M133I	ENST00000297135	4/22	593	498	95	433	433	0	strelka-varscan-mutect	COG5,missense_variant,p.Met133Ile,ENST00000393603,NM_001161520.1;COG5,missense_variant,p.Met133Ile,ENST00000347053,NM_181733.2;COG5,missense_variant,p.Met133Ile,ENST00000297135,NM_006348.3;COG5,missense_variant,p.Met102Ile,ENST00000605888,;COG5,non_coding_transcript_exon_variant,,ENST00000475638,;COG5,non_coding_transcript_exon_variant,,ENST00000469503,;	A	ENST00000297135	Transcript	missense_variant	924/4060	399/2583	133/860	M/I	atG/atT	COSM5288391	1		-1	COG5	HGNC	HGNC:14857	protein_coding	YES	CCDS5742.1	ENSP00000297135	Q9UP83		UPI0000246D05	NM_006348.3	tolerated(0.22)		4/22		Pfam_domain:PF10392,hmmpanther:PTHR13228,hmmpanther:PTHR13228:SF3											1						MODERATE	1	SNV	1		1	1										PASS		rs1267467691	.												A	3	1	2	107548319	107548319	C	A	1	0	0	0	0	1	0	0	0	3449	826	29	2		2	COG5	7	107548319	Missense_Mutation	SNP	C	11LU016_TP	2405192	107548319	51797654	235	291											
SLC26A4	0	.	GRCh38	chr7	107674330	107674330	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgccagtgccctgactctGctggttggaattatacaggt	8	13	11	9	0	1	1	0	1	1	0	1	2	1	2	2	3	4	2	2	3	3	4	novel		11LU016_TP	11LU016_NB	G	G																c.582G>T	p.=	p.L194L	ENST00000265715	5/21	370	315	55	257	256	1	strelka-varscan-mutect	SLC26A4,synonymous_variant,p.=,ENST00000265715,NM_000441.1;SLC26A4,downstream_gene_variant,,ENST00000440056,;	T	ENST00000265715	Transcript	synonymous_variant	806/4930	582/2343	194/780	L	ctG/ctT		1		1	SLC26A4	HGNC	HGNC:8818	protein_coding	YES	CCDS5746.1	ENSP00000265715	O43511		UPI00001315A4	NM_000441.1			5/21		Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF33,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00815,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	107674330	107674330	G	T	1	0	0	0	0	0	0	0	1	14789	1306	46	2		2	SLC26A4	7	107674330	Silent	SNP	G	11LU016_TP	126011	107674330	51671643	236	292											
SLC26A4	0	.	GRCh38	chr7	107700160	107700180	+	Splice_Site	DEL	ATGTATCAAGTCCACAGTAAG	ATGTATCAAGTCCACAGTAAG	-																															aatgtcgatggttttaaaaaAtgtatcaagtccacagtaag																								novel		11LU016_TP	11LU016_NB	ATGTATCAAGTCCACAGTAAG	ATGTATCAAGTCCACAGTAAG																c.1692_1707+5delATGTATCAAGTCCACAGTAAG		p.X564_splice	ENST00000265715	15/21	353	328	25	273	273	0	sindel-pindel	SLC26A4,splice_donor_variant,,ENST00000265715,NM_000441.1;SLC26A4,splice_donor_variant,,ENST00000480841,;SLC26A4,splice_donor_variant,,ENST00000492030,;SLC26A4,non_coding_transcript_exon_variant,,ENST00000477350,;SLC26A4,downstream_gene_variant,,ENST00000460748,;SLC26A4,downstream_gene_variant,,ENST00000497446,;	-	ENST00000265715	Transcript	splice_donor_variant,coding_sequence_variant,intron_variant	1916-?/4930	1692-?/2343	564-?/780				1		1	SLC26A4	HGNC	HGNC:8818	protein_coding	YES	CCDS5746.1	ENSP00000265715	O43511		UPI00001315A4	NM_000441.1			15/21	15/20																		HIGH	1	deletion	1			1										PASS		.	.												-	8	5	2	107700160	107700160	ATGTATCAAGTCCACAGTAAG	-	1	0	1	0	1	0	0	1	0	14789	98	4	0		0	SLC26A4	7	107700160	Splice_Site	DEL	ATGTATCAAGTCCACAGTAAG	11LU016_TP	25830	107700160	51645813	237	293											
LAMB1	0	.	GRCh38	chr7	107929412	107929412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccatgtctttagatacCttgctcttttagcttcttct	6	19	6	10	0	4	1	0	0	4	1	4	2	4	1	2	0	4	2	2	0	3	8	rs747370433		11LU016_TP	11LU016_NB	C	C																c.4745G>A	p.Ser1582Asn	p.S1582N	ENST00000222399	30/34	201	162	39	188	188	0	strelka-varscan-mutect	LAMB1,missense_variant,p.Ser1606Asn,ENST00000393561,;LAMB1,missense_variant,p.Ser1582Asn,ENST00000222399,NM_002291.2;LAMB1,downstream_gene_variant,,ENST00000474380,;LAMB1,downstream_gene_variant,,ENST00000468518,;LAMB1,non_coding_transcript_exon_variant,,ENST00000472714,;DLD,intron_variant,,ENST00000417551,;	T	ENST00000222399	Transcript	missense_variant,splice_region_variant	4976/5725	4745/5361	1582/1786	S/N	aGc/aAc	rs747370433	1		-1	LAMB1	HGNC	HGNC:6486	protein_coding	YES	CCDS5750.1	ENSP00000222399	P07942		UPI00001AE63F	NM_002291.2	tolerated(0.19)		30/34		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF233,Superfamily_domains:SSF46579																	MODERATE	1	SNV	1			1										PASS		rs747370433	.												T	3	4	2	107929412	107929412	C	T	1	0	0	0	0	1	0	0	0	8514	695	24	3		3	LAMB1	7	107929412	Missense_Mutation	SNP	C	11LU016_TP	229252	107929412	51416561	238	294											
HYAL4	0	.	GRCh38	chr7	123868552	123868552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcactatattttatgtcaaCagattgggatactatccgtg	11	15	8	7	1	2	1	2	0	0	1	3	2	3	2	1	1	2	0	1	1	6	7	novel		11LU016_TP	11LU016_NB	C	C																c.279C>A	p.Asn93Lys	p.N93K	ENST00000223026	3/5	157	129	28	131	131	0	strelka-varscan-mutect	HYAL4,missense_variant,p.Asn93Lys,ENST00000223026,NM_012269.2;HYAL4,missense_variant,p.Asn93Lys,ENST00000476325,;HYAL4,downstream_gene_variant,,ENST00000489978,;HYAL4,downstream_gene_variant,,ENST00000488323,;HYAL4,missense_variant,p.Asn93Lys,ENST00000483878,;	A	ENST00000223026	Transcript	missense_variant	917/2407	279/1446	93/481	N/K	aaC/aaA		1		1	HYAL4	HGNC	HGNC:5323	protein_coding	YES	CCDS5789.1	ENSP00000223026	Q2M3T9		UPI000006F62B	NM_012269.2	deleterious(0.01)		3/5		Gene3D:3.20.20.70,Pfam_domain:PF01630,PIRSF_domain:PIRSF038193,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF7,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	123868552	123868552	C	A	1	0	0	0	0	1	0	0	0	7362	477	17	2		2	HYAL4	7	123868552	Missense_Mutation	SNP	C	11LU016_TP	15939140	123868552	35477421	239	295											
PRRT4	0	.	GRCh38	chr7	128352011	128352011	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccgccccagcaggagagCgccagcagcagcccggaaag	10	0	14	17	4	0	1	0	0	0	1	0	3	0	2	5	2	5	3	5	2	1	0	novel		11LU016_TP	11LU016_NB	C	C																c.1545G>A	p.=	p.A515A	ENST00000446477	6/6	52	48	4	59	59	0	strelka-mutect	PRRT4,synonymous_variant,p.=,ENST00000446477,NM_001174164.1;PRRT4,synonymous_variant,p.=,ENST00000535159,;PRRT4,intron_variant,,ENST00000489835,NM_001114726.2;PRRT4,intron_variant,,ENST00000480290,;PRRT4,downstream_gene_variant,,ENST00000489517,;	T	ENST00000446477	Transcript	synonymous_variant	1859/3544	1545/2700	515/899	A	gcG/gcA		1		-1	PRRT4	HGNC	HGNC:37280	protein_coding	YES	CCDS55160.1	ENSP00000415026	C9JH25		UPI0000DD7E1D	NM_001174164.1			6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR35578,hmmpanther:PTHR35578:SF1,Transmembrane_helices:TMhelix																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	2	128352011	128352011	C	T	1	0	0	0	0	0	0	0	1	12758	755	27	1		1	PRRT4	7	128352011	Silent	SNP	C	11LU016_TP	4483459	128352011	30993962	240	296											
STRIP2	0	.	GRCh38	chr7	129455339	129455339	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcacttccccataaagAaggtcctgctcctgctctgg	7	11	7	16	0	2	1	1	0	1	1	6	1	6	1	5	2	2	2	5	2	3	2	novel		11LU016_TP	11LU016_NB	A	A																c.802A>T	p.Lys268Ter	p.K268*	ENST00000249344	8/21	161	150	11	123	123	0	strelka-varscan-mutect	STRIP2,stop_gained,p.Lys268Ter,ENST00000249344,NM_020704.2;STRIP2,stop_gained,p.Lys268Ter,ENST00000435494,NM_001134336.1;STRIP2,upstream_gene_variant,,ENST00000465033,;	T	ENST00000249344	Transcript	stop_gained	842/5115	802/2505	268/834	K/*	Aag/Tag		1		1	STRIP2	HGNC	HGNC:22209	protein_coding	YES	CCDS34752.1	ENSP00000249344	Q9ULQ0		UPI00001C1E68	NM_020704.2			8/21		Pfam_domain:PF07923,hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF6,Low_complexity_(Seg):seg,SMART_domains:SM01292																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	2	129455339	129455339	A	T	1	0	0	0	0	0	1	0	0	15711	247	9	4		4	STRIP2	7	129455339	Nonsense_Mutation	SNP	A	11LU016_TP	1103328	129455339	29890634	241	297											
MKLN1	0	.	GRCh38	chr7	131327923	131327923	+	Silent	SNP	T	T	C																															gcggctggcggagctgtcgcTgcggcgcccgagtgccggct																								novel		11LU016_TP	11LU016_NB	T	T																c.24T>C	p.=	p.A8A	ENST00000352689	1/18	215	145	70	189	189	0	strelka-varscan-mutect	MKLN1,synonymous_variant,p.=,ENST00000352689,NM_001321316.1,NM_001145354.1,NM_013255.4;MKLN1,5_prime_UTR_variant,,ENST00000446815,;MKLN1,intron_variant,,ENST00000421797,;MKLN1,intron_variant,,ENST00000416992,;MKLN1,intron_variant,,ENST00000429546,;MKLN1-AS,intron_variant,,ENST00000447514,;MKLN1-AS,upstream_gene_variant,,ENST00000429067,;MKLN1-AS,upstream_gene_variant,,ENST00000444245,;MKLN1-AS,upstream_gene_variant,,ENST00000454515,;MKLN1-AS,upstream_gene_variant,,ENST00000416220,;MKLN1,non_coding_transcript_exon_variant,,ENST00000494286,;MKLN1,synonymous_variant,p.=,ENST00000458153,;MKLN1,non_coding_transcript_exon_variant,,ENST00000494785,;MKLN1-AS,upstream_gene_variant,,ENST00000447904,;	C	ENST00000352689	Transcript	synonymous_variant	64/11156	24/2208	8/735	A	gcT/gcC		1		1	MKLN1	HGNC	HGNC:7109	protein_coding	YES	CCDS34754.1	ENSP00000323527	Q9UL63		UPI0000034CB0	NM_001321316.1,NM_001145354.1,NM_013255.4			1/18		hmmpanther:PTHR15526,hmmpanther:PTHR15526:SF5,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	2	131327923	131327923	T	C	1	0	0	0	0	0	0	0	1	9570	1567	55	5		5	MKLN1	7	131327923	Silent	SNP	T	11LU016_TP	1872584	131327923	28018050	242	298	7	2									
MKLN1	0	.	GRCh38	chr7	131327924	131327924	+	Missense_Mutation	SNP	G	G	T																															cggctggcggagctgtcgctGcggcgcccgagtgccggctt																								novel		11LU016_TP	11LU016_NB	G	G																c.25G>T	p.Ala9Ser	p.A9S	ENST00000352689	1/18	215	146	69	186	186	0	strelka-varscan-mutect	MKLN1,missense_variant,p.Ala9Ser,ENST00000352689,NM_001321316.1,NM_001145354.1,NM_013255.4;MKLN1,5_prime_UTR_variant,,ENST00000446815,;MKLN1,intron_variant,,ENST00000421797,;MKLN1,intron_variant,,ENST00000416992,;MKLN1,intron_variant,,ENST00000429546,;MKLN1-AS,intron_variant,,ENST00000447514,;MKLN1-AS,upstream_gene_variant,,ENST00000429067,;MKLN1-AS,upstream_gene_variant,,ENST00000444245,;MKLN1-AS,upstream_gene_variant,,ENST00000454515,;MKLN1-AS,upstream_gene_variant,,ENST00000416220,;MKLN1,non_coding_transcript_exon_variant,,ENST00000494286,;MKLN1,missense_variant,p.Ala9Ser,ENST00000458153,;MKLN1,non_coding_transcript_exon_variant,,ENST00000494785,;MKLN1-AS,upstream_gene_variant,,ENST00000447904,;	T	ENST00000352689	Transcript	missense_variant	65/11156	25/2208	9/735	A/S	Gcg/Tcg		1		1	MKLN1	HGNC	HGNC:7109	protein_coding	YES	CCDS34754.1	ENSP00000323527	Q9UL63		UPI0000034CB0	NM_001321316.1,NM_001145354.1,NM_013255.4	tolerated_low_confidence(0.49)		1/18		hmmpanther:PTHR15526,hmmpanther:PTHR15526:SF5,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	131327924	131327924	G	T	1	0	0	0	0	1	0	0	0	9570	1319	46	2		2	MKLN1	7	131327924	Missense_Mutation	SNP	G	11LU016_TP	1	131327924	28018049	243	299	7	2									
PLXNA4	0	.	GRCh38	chr7	132148554	132148554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccctcacctggtagtgggCcagtgtgttcagtcgcttcc	4	12	11	14	1	2	0	2	0	0	0	5	0	4	0	5	2	0	3	5	2	1	3	novel		11LU016_TP	11LU016_NB	C	C																c.4753G>A	p.Ala1585Thr	p.A1585T	ENST00000359827	26/32	168	141	27	152	151	1	strelka-varscan-mutect	PLXNA4,missense_variant,p.Ala1585Thr,ENST00000359827,;PLXNA4,missense_variant,p.Ala1585Thr,ENST00000321063,NM_020911.1;PLXNA4,upstream_gene_variant,,ENST00000496550,;	T	ENST00000359827	Transcript	missense_variant	5716/13786	4753/5685	1585/1894	A/T	Gcc/Acc		1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B		tolerated(0.08)		26/32		Gene3D:3.10.20.90,Pfam_domain:PF08337,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	2	132148554	132148554	C	T	1	0	0	0	0	1	0	0	0	12228	739	26	3		3	PLXNA4	7	132148554	Missense_Mutation	SNP	C	11LU016_TP	820630	132148554	27197419	244	300											
MGAM	0	.	GRCh38	chr7	142008607	142008607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggacaacgggtcccccaGatcctggaacaactggtacc	11	6	10	14	1	0	1	0	0	0	1	2	3	2	3	4	4	4	1	4	4	5	2	novel		11LU016_TP	11LU016_NB	G	G																c.229G>T	p.Asp77Tyr	p.D77Y	ENST00000549489	3/48	338	232	106	236	236	0	strelka-varscan-mutect	MGAM,missense_variant,p.Asp77Tyr,ENST00000475668,;MGAM,missense_variant,p.Asp77Tyr,ENST00000549489,NM_004668.2;MGAM,missense_variant,p.Asp77Tyr,ENST00000620571,;MGAM,missense_variant,p.Asp77Tyr,ENST00000465654,;MGAM,missense_variant,p.Asp77Tyr,ENST00000497673,;	T	ENST00000549489	Transcript	missense_variant	324/6525	229/5574	77/1857	D/Y	Gat/Tat		1		1	MGAM	HGNC	HGNC:7043	protein_coding	YES	CCDS47727.1	ENSP00000447378	O43451		UPI000183CB7B	NM_004668.2	deleterious(0.02)		3/48		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	142008607	142008607	G	T	1	0	0	0	0	1	0	0	0	9499	942	33	2		2	MGAM	7	142008607	Missense_Mutation	SNP	G	11LU016_TP	9860053	142008607	17337366	245	301											
MGAM	0	.	GRCh38	chr7	142080855	142080855	+	Missense_Mutation	SNP	C	C	T																															gaacatacccagcgtgccatCcagcacccctgagggtcaac																								rs750282712		11LU016_TP	11LU016_NB	C	C																c.5912C>T	p.Ser1971Phe	p.S1971F	ENST00000475668	50/71	247	191	56	220	220	0	strelka-varscan-mutect	MGAM,missense_variant,p.Ser1971Phe,ENST00000475668,;MGAM,intron_variant,,ENST00000549489,NM_004668.2;MGAM,intron_variant,,ENST00000620571,;	T	ENST00000475668	Transcript	missense_variant	5966/9172	5912/8262	1971/2753	S/F	tCc/tTc	rs750282712,COSM5193359	1		1	MGAM	HGNC	HGNC:7043	protein_coding			ENSP00000417515		E7ER45	UPI0002B832FC		tolerated(0.05)		50/71		Pfam_domain:PF16863,Superfamily_domains:SSF74650											0,1						MODERATE		SNV	5		0,1	1										PASS		rs750282712	.												T	3	4	2	142080855	142080855	C	T	1	0	0	0	0	1	0	0	0	9499	855	30	3		3	MGAM	7	142080855	Missense_Mutation	SNP	C	11LU016_TP	72248	142080855	17265118	246	302	8	2									
MGAM	0	.	GRCh38	chr7	142080856	142080856	+	Silent	SNP	C	C	A																															aacatacccagcgtgccatcCagcacccctgagggtcaact																								novel		11LU016_TP	11LU016_NB	C	C																c.5913C>A	p.=	p.S1971S	ENST00000475668	50/71	248	195	53	226	226	0	strelka-varscan-mutect	MGAM,synonymous_variant,p.=,ENST00000475668,;MGAM,intron_variant,,ENST00000549489,NM_004668.2;MGAM,intron_variant,,ENST00000620571,;	A	ENST00000475668	Transcript	synonymous_variant	5967/9172	5913/8262	1971/2753	S	tcC/tcA		1		1	MGAM	HGNC	HGNC:7043	protein_coding			ENSP00000417515		E7ER45	UPI0002B832FC				50/71		Pfam_domain:PF16863,Superfamily_domains:SSF74650																	LOW		SNV	5			1										PASS		.	.												A	2	1	2	142080856	142080856	C	A	1	0	0	0	0	0	0	0	1	9499	581	21	2		2	MGAM	7	142080856	Silent	SNP	C	11LU016_TP	1	142080856	17265117	247	303	8	2									
TRPV6	0	.	GRCh38	chr7	142877281	142877281	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcagtgcagtctgaccTggcccagagacagctgtcag	9	8	13	11	0	2	2	1	1	1	1	2	3	2	2	2	1	3	3	2	1	0	0	novel		11LU016_TP	11LU016_NB	T	T																c.470-2A>G		p.X157_splice	ENST00000359396		112	91	21	88	88	0	strelka-varscan-mutect	TRPV6,splice_acceptor_variant,,ENST00000359396,NM_018646.5;TRPV6,splice_acceptor_variant,,ENST00000431833,;TRPV6,intron_variant,,ENST00000436401,;RP11-114L10.2,intron_variant,,ENST00000438839,;TRPV6,non_coding_transcript_exon_variant,,ENST00000615386,;TRPV6,non_coding_transcript_exon_variant,,ENST00000489123,;TRPV6,upstream_gene_variant,,ENST00000485138,;TRPV6,upstream_gene_variant,,ENST00000619250,;TRPV6,upstream_gene_variant,,ENST00000474388,;	C	ENST00000359396	Transcript	splice_acceptor_variant	-/2928	470/2298	157/765				1		-1	TRPV6	HGNC	HGNC:14006	protein_coding	YES		ENSP00000352358	Q9H1D0		UPI00064546CC	NM_018646.5				3/14																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	2	142877281	142877281	T	C	1	0	0	0	0	0	0	1	0	17106	1594	55	5		5	TRPV6	7	142877281	Splice_Site	SNP	T	11LU016_TP	796425	142877281	16468692	248	304											
TRPV5	0	.	GRCh38	chr7	142929457	142929457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggttgcggggactatggCggaaggcagtgcctgtggct	6	9	19	7	2	0	1	0	1	0	0	0	3	0	3	1	7	2	3	1	7	2	2	rs192702809		11LU016_TP	11LU016_NB	C	C																c.458G>T	p.Arg153Leu	p.R153L	ENST00000265310	4/15	167	150	17	129	129	0	strelka-mutect	TRPV5,missense_variant,p.Arg153Leu,ENST00000265310,NM_019841.6;TRPV5,missense_variant,p.Arg153Leu,ENST00000442623,;TRPV5,missense_variant,p.Arg147Leu,ENST00000439304,;	A	ENST00000265310	Transcript	missense_variant	807/2952	458/2190	153/729	R/L	cGc/cTc	rs192702809,COSM316219,COSM745233	1		-1	TRPV5	HGNC	HGNC:3145	protein_coding	YES	CCDS5875.1	ENSP00000265310		A0A0A6YY98	UPI0004620D64	NM_019841.6	tolerated(0.1)		4/15		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF11,Superfamily_domains:SSF48403,TIGRFAM_domain:TIGR00870											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs192702809	.												A	3	1	2	142929457	142929457	C	A	1	0	0	0	0	1	0	0	0	17105	768	27	1		1	TRPV5	7	142929457	Missense_Mutation	SNP	C	11LU016_TP	52176	142929457	16416516	249	305											
CTAGE6	0	.	GRCh38	chr7	143757005	143757005	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttatggcttgtctgaagTtgagaattttcattcaaagc	10	17	9	5	0	3	2	2	2	1	1	3	3	3	2	0	1	1	3	0	1	4	7	novel		11LU016_TP	11LU016_NB	T	T																c.654A>T	p.Gln218His	p.Q218H	ENST00000470691	1/1	156	133	23	151	151	0	varscan-mutect	CTAGE6,missense_variant,p.Gln218His,ENST00000470691,NM_178561.4;RP11-298A10.1,intron_variant,,ENST00000636919,;RP11-298A10.1,intron_variant,,ENST00000636123,;RNU6-267P,upstream_gene_variant,,ENST00000516714,;RP11-61L23.2,downstream_gene_variant,,ENST00000491047,;	A	ENST00000470691	Transcript	missense_variant	692/2608	654/2334	218/777	Q/H	caA/caT		1		-1	CTAGE6	HGNC	HGNC:28644	protein_coding	YES	CCDS64790.1	ENSP00000474388	Q86UF2		UPI0000199826	NM_178561.4	tolerated(0.48)		1/1		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF39																	MODERATE	1	SNV				1										PASS		rs905831435	.												A	3	1	2	143757005	143757005	T	A	1	0	0	0	0	1	0	0	0	3800	1722	60	4		4	CTAGE6	7	143757005	Missense_Mutation	SNP	T	11LU016_TP	827548	143757005	15588968	250	306											
OR6B1	0	.	GRCh38	chr7	144004123	144004123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgacagtggctgaaaacGtgatcatcatcctattggtg	10	13	10	8	1	3	3	2	3	1	0	4	3	4	3	1	2	1	1	1	2	3	3	novel		11LU016_TP	11LU016_NB	G	G																c.127G>T	p.Val43Leu	p.V43L	ENST00000408922	1/1	259	193	66	227	225	2	strelka-varscan-mutect	OR6B1,missense_variant,p.Val43Leu,ENST00000408922,NM_001005281.1;	T	ENST00000408922	Transcript	missense_variant	195/1055	127/936	43/311	V/L	Gtg/Ttg		1		1	OR6B1	HGNC	HGNC:8354	protein_coding	YES	CCDS43667.1	ENSP00000386151	O95007		UPI0000041B18	NM_001005281.1	tolerated(1)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF284,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	2	144004123	144004123	G	T	1	0	0	0	0	1	0	0	0	11255	1145	40	1		1	OR6B1	7	144004123	Missense_Mutation	SNP	G	11LU016_TP	247118	144004123	15341850	251	307											
OR2A42	0	.	GRCh38	chr7	144232679	144232679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaagtacatgggggtGtggagtctggagtccagtga	11	8	18	4	0	1	2	0	1	1	1	2	5	2	5	1	5	1	1	1	5	3	1	rs202091077		11LU016_TP	11LU016_NB	G	G																c.165C>A	p.His55Gln	p.H55Q	ENST00000391496	1/1	104	61	43	103	103	0	varscan-mutect	OR2A42,missense_variant,p.His55Gln,ENST00000391496,NM_001001802.2;RP4-545C24.1,intron_variant,,ENST00000498693,;RP4-545C24.1,intron_variant,,ENST00000464929,;RP4-545C24.1,intron_variant,,ENST00000460955,;RP4-545C24.1,intron_variant,,ENST00000493248,;RP4-545C24.1,intron_variant,,ENST00000489077,;RP4-545C24.1,intron_variant,,ENST00000477797,;RP4-545C24.1,downstream_gene_variant,,ENST00000480074,;	T	ENST00000391496	Transcript	missense_variant	165/933	165/933	55/310	H/Q	caC/caA	rs202091077	1		-1	OR2A42	HGNC	HGNC:31230	protein_coding	YES	CCDS56515.1	ENSP00000375334	Q8NGT9		UPI0000041DF3	NM_001001802.2	deleterious(0.03)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF115,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs3812403	.												T	3	4	2	144232679	144232679	G	T	1	0	0	0	0	1	0	0	0	11057	1368	48	2		2	OR2A42	7	144232679	Missense_Mutation	SNP	G	11LU016_TP	228556	144232679	15113294	252	308											
SSPO	0	.	GRCh38	chr7	149827817	149827817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggccccgggggagctgggGctctgcgagcagacgtgcct	4	6	19	12	3	1	1	0	0	1	1	1	3	1	2	3	5	4	3	3	5	0	0	novel		11LU016_TP	11LU016_NB	G	G																c.14823G>A	p.=	p.G4941G	ENST00000378016	102/107	106	69	37	64	64	0	strelka-varscan-mutect	SSPO,synonymous_variant,p.=,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,non_coding_transcript_exon_variant,,ENST00000492965,;SSPO,non_coding_transcript_exon_variant,,ENST00000488835,;SSPO,non_coding_transcript_exon_variant,,ENST00000461331,;SSPO,non_coding_transcript_exon_variant,,ENST00000465639,;SSPO,non_coding_transcript_exon_variant,,ENST00000472850,;	A	ENST00000378016	Transcript	synonymous_variant	14823/15589	14823/15453	4941/5150	G	ggG/ggA		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2			102/107		Gene3D:2.10.25.10,Superfamily_domains:SSF57567																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	2	149827817	149827817	G	A	1	0	0	0	0	0	0	0	1	15566	1190	42	3		3	SSPO	7	149827817	Silent	SNP	G	11LU016_TP	5595138	149827817	9518156	253	309											
HTR5A	0	.	GRCh38	chr7	155071324	155071324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccctggaccgctactggtCcatcacgcgccacatggaat	9	7	10	15	3	1	0	1	0	0	0	2	2	2	2	4	3	2	1	4	3	2	1	novel		11LU016_TP	11LU016_NB	C	C																c.425C>A	p.Ser142Tyr	p.S142Y	ENST00000287907	1/2	225	188	37	191	191	0	strelka-varscan-mutect	HTR5A,missense_variant,p.Ser142Tyr,ENST00000287907,NM_024012.3;HTR5A-AS1,non_coding_transcript_exon_variant,,ENST00000395731,;HTR5A-AS1,non_coding_transcript_exon_variant,,ENST00000493904,;RP11-5C23.4,upstream_gene_variant,,ENST00000637588,;	A	ENST00000287907	Transcript	missense_variant	1001/2912	425/1074	142/357	S/Y	tCc/tAc		1		1	HTR5A	HGNC	HGNC:5300	protein_coding	YES	CCDS5936.1	ENSP00000287907	P47898	A4D2N2	UPI000004477E	NM_024012.3	deleterious(0)		1/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF108,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	155071324	155071324	C	A	1	0	0	0	0	1	0	0	0	7346	855	30	2		2	HTR5A	7	155071324	Missense_Mutation	SNP	C	11LU016_TP	5243507	155071324	4274649	254	310											
EN2	0	.	GRCh38	chr7	155458944	155458944	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcggcttgggcggcggCgacctgtcggtgagctcgga	3	6	19	13	7	0	1	0	1	0	0	2	3	0	2	2	6	1	2	2	6	0	1	novel		11LU016_TP	11LU016_NB	C	C																c.567C>A	p.=	p.G189G	ENST00000297375	1/2	175	158	17	252	252	0	strelka-varscan-mutect	EN2,synonymous_variant,p.=,ENST00000297375,NM_001427.3;AC008060.8,upstream_gene_variant,,ENST00000419225,;	A	ENST00000297375	Transcript	synonymous_variant	816/3395	567/1002	189/333	G	ggC/ggA		1		1	EN2	HGNC	HGNC:3343	protein_coding	YES	CCDS5940.1	ENSP00000297375	P19622		UPI000012CA05	NM_001427.3			1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24341:SF5,hmmpanther:PTHR24341																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	155458944	155458944	C	A	1	0	0	0	0	0	0	0	1	4952	755	27	1		1	EN2	7	155458944	Silent	SNP	C	11LU016_TP	387620	155458944	3887029	255	311											
CSMD1	0	.	GRCh38	chr8	3029334	3029334	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctcgacagcttggccTctcatctcctatgttccacg	6	13	6	16	2	2	0	1	0	2	0	6	1	3	0	4	1	2	2	4	1	2	4	rs779259347		11LU016_TP	11LU016_NB	T	T																c.7843A>T	p.Arg2615Trp	p.R2615W	ENST00000520002	52/71	83	64	19	69	69	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Arg2476Trp,ENST00000537824,;CSMD1,missense_variant,p.Arg2032Trp,ENST00000335551,;CSMD1,missense_variant,p.Arg2615Trp,ENST00000520002,;CSMD1,missense_variant,p.Arg2615Trp,ENST00000602557,;CSMD1,missense_variant,p.Arg2614Trp,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Arg2615Trp,ENST00000400186,;CSMD1,missense_variant,p.Arg2615Trp,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000519623,;	A	ENST00000520002	Transcript	missense_variant	8399/11740	7843/10698	2615/3565	R/W	Agg/Tgg	rs779259347	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0.03)		52/71		Gene3D:2.10.70.10,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		rs779259347	.												A	3	1	2	3029334	3029334	T	A	1	0	0	0	0	1	0	0	0	3745	1550	54	4		4	CSMD1	8	3029334	Missense_Mutation	SNP	T	11LU016_TP		3029334	142109302	256	312											
CSMD1	0	.	GRCh38	chr8	3223759	3223759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggcgatgacaaagtccGggttcacttttactctccag	10	11	9	11	2	3	1	2	1	1	0	5	2	4	1	2	2	1	1	2	2	3	3	rs571113460		11LU016_TP	11LU016_NB	G	G																c.4457C>A	p.Pro1486Gln	p.P1486Q	ENST00000520002	29/71	215	203	12	177	176	1	strelka-mutect	CSMD1,missense_variant,p.Pro1347Gln,ENST00000537824,;CSMD1,missense_variant,p.Pro966Gln,ENST00000335551,;CSMD1,missense_variant,p.Pro1486Gln,ENST00000520002,;CSMD1,missense_variant,p.Pro1486Gln,ENST00000602557,;CSMD1,missense_variant,p.Pro1485Gln,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Pro1486Gln,ENST00000400186,;CSMD1,missense_variant,p.Pro1486Gln,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	T	ENST00000520002	Transcript	missense_variant	5013/11740	4457/10698	1486/3565	P/Q	cCg/cAg	rs571113460,COSM383538,COSM383539,COSM4772151,COSM4772152,COSM4772153	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0.01)		29/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854											0,1,1,1,1,1						MODERATE	1	SNV	5		0,1,1,1,1,1	1										PASS		rs571113460	.												T	3	4	2	3223759	3223759	G	T	1	0	0	0	0	1	0	0	0	3745	1116	39	1		1	CSMD1	8	3223759	Missense_Mutation	SNP	G	11LU016_TP	194425	3223759	141914877	257	313											
RP1L1	0	.	GRCh38	chr8	10609234	10609234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccccaggcccagggtccGctcagagaaggccgagaggt	8	3	17	13	2	1	2	1	0	0	2	2	4	2	2	5	5	0	1	5	5	1	0	rs201695025		11LU016_TP	11LU016_NB	G	G																c.4864C>T	p.Arg1622Trp	p.R1622W	ENST00000382483	4/4	295	279	16	278	277	1	strelka-varscan-mutect	RP1L1,missense_variant,p.Arg1622Trp,ENST00000382483,NM_178857.5;	A	ENST00000382483	Transcript	missense_variant	5088/7973	4864/7203	1622/2400	R/W	Cgg/Tgg	rs201695025,COSM119889	1		-1	RP1L1	HGNC	HGNC:15946	protein_coding	YES	CCDS43708.1	ENSP00000371923		A6NKC6	UPI00001AF9CC	NM_178857.5	deleterious(0)		4/4		hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF3											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201695025	.												A	3	1	2	10609234	10609234	G	A	1	0	0	0	0	1	0	0	0	13773	1086	38	1		1	RP1L1	8	10609234	Missense_Mutation	SNP	G	11LU016_TP	7385475	10609234	134529402	258	314											
SLC39A14	0	.	GRCh38	chr8	22408424	22408424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagcagctggattcccggGcctgcacctcggagaaccag	8	6	12	15	2	0	1	0	0	0	1	3	3	2	2	5	3	4	3	5	3	1	1	novel		11LU016_TP	11LU016_NB	G	G																c.385G>T	p.Ala129Ser	p.A129S	ENST00000359741	3/9	186	145	41	222	222	0	strelka-varscan-mutect	SLC39A14,missense_variant,p.Ala129Ser,ENST00000359741,NM_015359.4;SLC39A14,missense_variant,p.Ala129Ser,ENST00000381237,NM_001128431.2;SLC39A14,missense_variant,p.Ala129Ser,ENST00000289952,NM_001135153.1;SLC39A14,missense_variant,p.Ala129Ser,ENST00000240095,NM_001135154.1;SLC39A14,missense_variant,p.Ala129Ser,ENST00000522881,;SLC39A14,upstream_gene_variant,,ENST00000517370,;SLC39A14,downstream_gene_variant,,ENST00000520832,;SLC39A14,downstream_gene_variant,,ENST00000517552,;SLC39A14,downstream_gene_variant,,ENST00000524285,;SLC39A14,downstream_gene_variant,,ENST00000519960,;SLC39A14,downstream_gene_variant,,ENST00000520644,;	T	ENST00000359741	Transcript	missense_variant	560/4641	385/1479	129/492	A/S	Gcc/Tcc		1		1	SLC39A14	HGNC	HGNC:20858	protein_coding	YES	CCDS6030.1	ENSP00000352779	Q15043		UPI0000457680	NM_015359.4	tolerated(0.5)		3/9		hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF5																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	2	22408424	22408424	G	T	1	0	0	0	0	1	0	0	0	14895	1203	42	2		2	SLC39A14	8	22408424	Missense_Mutation	SNP	G	11LU016_TP	11799190	22408424	122730212	259	315											
DPYSL2	0	.	GRCh38	chr8	26624194	26624194	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcgctgcctttgaccAgtggagggaatgggccgaca	7	8	14	12	2	0	1	0	1	0	0	1	4	0	3	4	3	2	2	4	3	1	1	novel		11LU016_TP	11LU016_NB	A	A																c.365A>T	p.Gln122Leu	p.Q122L	ENST00000311151	4/14	221	207	14	237	237	0	strelka-varscan-mutect	DPYSL2,missense_variant,p.Gln227Leu,ENST00000521913,NM_001197293.2;DPYSL2,missense_variant,p.Gln122Leu,ENST00000311151,NM_001386.5;DPYSL2,missense_variant,p.Gln86Leu,ENST00000523027,NM_001244604.1;DPYSL2,upstream_gene_variant,,ENST00000521983,;DPYSL2,downstream_gene_variant,,ENST00000523690,;DPYSL2,non_coding_transcript_exon_variant,,ENST00000523093,;	T	ENST00000311151	Transcript	missense_variant	777/4603	365/1719	122/572	Q/L	cAg/cTg		1		1	DPYSL2	HGNC	HGNC:3014	protein_coding	YES	CCDS6051.1	ENSP00000309539	Q16555		UPI0000129864	NM_001386.5	tolerated(0.05)		4/14		Gene3D:3.20.20.140,Pfam_domain:PF01979,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF56,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR02033																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	26624194	26624194	A	T	1	0	0	0	0	1	0	0	0	4562	188	7	4		4	DPYSL2	8	26624194	Missense_Mutation	SNP	A	11LU016_TP	4215770	26624194	118514442	260	316											
NUGGC	0	.	GRCh38	chr8	28029389	28029389	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacgcttttttgcccgtGatctgagctgcctctggcaa	6	13	9	13	2	3	2	1	2	2	0	3	2	3	2	2	1	3	3	2	1	1	3	novel		11LU016_TP	11LU016_NB	G	G																c.2031C>A	p.=	p.I677I	ENST00000413272	17/19	180	147	33	123	122	1	strelka-varscan-mutect	NUGGC,synonymous_variant,p.=,ENST00000413272,NM_001010906.1;	T	ENST00000413272	Transcript	synonymous_variant	2174/3887	2031/2391	677/796	I	atC/atA		1		-1	NUGGC	HGNC	HGNC:33550	protein_coding	YES	CCDS47833.1	ENSP00000408697	Q68CJ6		UPI0000237454	NM_001010906.1			17/19																			LOW	1	SNV	2			1										PASS		rs1222184266	.												T	2	4	2	28029389	28029389	G	T	1	0	0	0	0	0	0	0	1	10814	1280	45	2		2	NUGGC	8	28029389	Silent	SNP	G	11LU016_TP	1405195	28029389	117109247	261	317											
ELP3	0	.	GRCh38	chr8	28129592	28129592	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgacatttaagtgacatgttGacctatggctgcacaaggct	11	11	10	9	1	0	2	0	2	0	0	0	3	0	2	1	2	1	4	1	2	3	4	novel		11LU016_TP	11LU016_NB	G	G																c.708G>A	p.=	p.L236L	ENST00000256398	8/15	285	243	42	241	241	0	strelka-varscan-mutect	ELP3,synonymous_variant,p.=,ENST00000256398,NM_018091.5;ELP3,synonymous_variant,p.=,ENST00000521015,NM_001284222.1;ELP3,synonymous_variant,p.=,ENST00000380353,NM_001284226.1;ELP3,synonymous_variant,p.=,ENST00000537665,NM_001284225.1,NM_001284224.1;ELP3,synonymous_variant,p.=,ENST00000524103,NM_001284220.1;ELP3,non_coding_transcript_exon_variant,,ENST00000520110,;ELP3,3_prime_UTR_variant,,ENST00000518112,;ELP3,3_prime_UTR_variant,,ENST00000519261,;ELP3,3_prime_UTR_variant,,ENST00000523687,;ELP3,non_coding_transcript_exon_variant,,ENST00000520011,;	A	ENST00000256398	Transcript	synonymous_variant	1085/3452	708/1644	236/547	L	ttG/ttA		1		1	ELP3	HGNC	HGNC:20696	protein_coding	YES	CCDS6065.1	ENSP00000256398	Q9H9T3		UPI000006F0B5	NM_018091.5			8/15		hmmpanther:PTHR11135,PIRSF_domain:PIRSF005669,TIGRFAM_domain:TIGR01211,Gene3D:2qgqB01,Pfam_domain:PF04055,SMART_domains:SM00729,Superfamily_domains:SSF102114																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	28129592	28129592	G	A	1	0	0	0	0	0	0	0	1	4915	1281	45	3		3	ELP3	8	28129592	Silent	SNP	G	11LU016_TP	100203	28129592	117009044	262	318											
DCTN6	0	.	GRCh38	chr8	30177139	30177139	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttacagttacccagataatAtcactcctgacactgaagat	14	12	5	10	0	1	4	1	2	0	2	2	4	2	4	2	0	2	1	2	0	5	5	novel		11LU016_TP	11LU016_NB	A	A																c.208A>G	p.Ile70Val	p.I70V	ENST00000221114	4/7	152	115	37	130	130	0	strelka-varscan-mutect	DCTN6,missense_variant,p.Ile70Val,ENST00000221114,NM_006571.3;DCTN6,missense_variant,p.Ile70Val,ENST00000520829,;RP11-51J9.4,intron_variant,,ENST00000523733,;DCTN6,missense_variant,p.Ile34Met,ENST00000522141,;LEPROTL1,3_prime_UTR_variant,,ENST00000520739,;DCTN6,3_prime_UTR_variant,,ENST00000519830,;DCTN6,non_coding_transcript_exon_variant,,ENST00000522540,;DCTN6,intron_variant,,ENST00000523666,;	G	ENST00000221114	Transcript	missense_variant	295/1127	208/573	70/190	I/V	Atc/Gtc		1		1	DCTN6	HGNC	HGNC:16964	protein_coding	YES	CCDS6076.1	ENSP00000221114	O00399		UPI0000138F9C	NM_006571.3	tolerated(0.31)		4/7		Gene3D:2.160.10.10,hmmpanther:PTHR13072,Superfamily_domains:SSF51161																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	30177139	30177139	A	G	1	0	0	0	0	1	0	0	0	4114	449	16	5		5	DCTN6	8	30177139	Missense_Mutation	SNP	A	11LU016_TP	2047547	30177139	114961497	263	319											
CHRNA6	0	.	GRCh38	chr8	42756303	42756303	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacccaccagtgggaccAccagagatgtggatgggatg	11	6	13	11	0	1	1	1	0	0	1	1	5	1	4	4	3	0	0	4	3	0	0	novel		11LU016_TP	11LU016_NB	A	A																c.896T>A	p.Val299Glu	p.V299E	ENST00000276410	5/6	227	214	13	226	226	0	strelka-varscan	CHRNA6,missense_variant,p.Val299Glu,ENST00000276410,NM_004198.3;CHRNA6,missense_variant,p.Val284Glu,ENST00000534622,NM_001199279.1;CHRNA6,downstream_gene_variant,,ENST00000533810,;CHRNA6,downstream_gene_variant,,ENST00000530869,;	T	ENST00000276410	Transcript	missense_variant	1252/2400	896/1485	299/494	V/E	gTg/gAg		1		-1	CHRNA6	HGNC	HGNC:15963	protein_coding	YES	CCDS6135.1	ENSP00000276410	Q15825		UPI0000061DF6	NM_004198.3	deleterious(0)		5/6		Gene3D:1.20.120.370,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF82,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	42756303	42756303	A	T	1	0	0	0	0	1	0	0	0	3147	159	6	4		4	CHRNA6	8	42756303	Missense_Mutation	SNP	A	11LU016_TP	12579164	42756303	102382333	264	320											
XKR4	0	.	GRCh38	chr8	55523345	55523345	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcctaccagaaggccctCcgggactctcgagatgacaa	10	6	10	15	2	1	3	0	1	1	2	4	5	3	4	5	2	1	0	5	2	3	1	novel		11LU016_TP	11LU016_NB	C	C																c.1071C>A	p.=	p.L357L	ENST00000327381	3/3	111	85	26	140	140	0	strelka-varscan	XKR4,synonymous_variant,p.=,ENST00000327381,NM_052898.1;XKR4,synonymous_variant,p.=,ENST00000622811,;RP11-628E19.2,upstream_gene_variant,,ENST00000522918,;XKR4,upstream_gene_variant,,ENST00000518261,;	A	ENST00000327381	Transcript	synonymous_variant	1171/19880	1071/1953	357/650	L	ctC/ctA		1		1	XKR4	HGNC	HGNC:29394	protein_coding	YES	CCDS34893.1	ENSP00000328326	Q5GH76		UPI000016098C	NM_052898.1			3/3		hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF14,Pfam_domain:PF09815																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	55523345	55523345	C	A	1	0	0	0	0	0	0	0	1	17992	842	30	2		2	XKR4	8	55523345	Silent	SNP	C	11LU016_TP	12767042	55523345	89615291	265	321											
CSMD3	0	.	GRCh38	chr8	112650185	112650185	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggttggaagtggatgacTccaccagtggtttttttcgc	8	13	12	8	1	0	1	0	1	0	0	2	3	1	3	2	4	0	2	2	4	1	4	novel		11LU016_TP	11LU016_NB	T	T																c.3169A>T	p.Ser1057Cys	p.S1057C	ENST00000297405	19/71	259	230	29	243	242	1	strelka-varscan-mutect	CSMD3,missense_variant,p.Ser1057Cys,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Ser1017Cys,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Ser953Cys,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Ser397Cys,ENST00000339701,;	A	ENST00000297405	Transcript	missense_variant	3414/13212	3169/11124	1057/3707	S/C	Agt/Tgt		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		19/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	112650185	112650185	T	A	1	0	0	0	0	1	0	0	0	3747	1551	54	4		4	CSMD3	8	112650185	Missense_Mutation	SNP	T	11LU016_TP	57126840	112650185	32488451	266	322											
ASAP1	0	.	GRCh38	chr8	130124106	130124106	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctacattcttggccagcTgtaacagaaaaaacaaacaa	17	9	5	10	0	1	1	0	0	1	1	2	1	2	1	2	1	5	2	2	1	7	5	novel		11LU016_TP	11LU016_NB	T	T																c.1516-2A>T		p.X506_splice	ENST00000518721		88	75	13	154	154	0	strelka-varscan-mutect	ASAP1,splice_acceptor_variant,,ENST00000357668,NM_001247996.1;ASAP1,splice_acceptor_variant,,ENST00000518721,NM_018482.3;ASAP1,splice_acceptor_variant,,ENST00000524124,;ASAP1,splice_acceptor_variant,,ENST00000521075,;	A	ENST00000518721	Transcript	splice_acceptor_variant	-/5507	1516/3390	506/1129				1		-1	ASAP1	HGNC	HGNC:2720	protein_coding	YES	CCDS6362.1	ENSP00000429900	Q9ULH1		UPI0000351D6E	NM_018482.3				17/29																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	2	130124106	130124106	T	A	1	0	0	0	0	0	0	1	0	1152	1594	55	4		4	ASAP1	8	130124106	Splice_Site	SNP	T	11LU016_TP	17473921	130124106	15014530	267	323											
ADCY8	0	.	GRCh38	chr8	131039870	131039870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaaggagttgcgcagggtgGggaaaatgacccctcggtag	10	7	17	7	2	0	2	0	2	0	0	1	4	0	4	2	5	1	3	2	5	4	2	novel		11LU016_TP	11LU016_NB	G	G																c.464C>A	p.Pro155His	p.P155H	ENST00000286355	1/18	318	256	62	279	278	1	strelka-varscan-mutect	ADCY8,missense_variant,p.Pro155His,ENST00000286355,NM_001115.2;ADCY8,missense_variant,p.Pro155His,ENST00000377928,;	T	ENST00000286355	Transcript	missense_variant	2557/5938	464/3756	155/1251	P/H	cCc/cAc		1		-1	ADCY8	HGNC	HGNC:239	protein_coding	YES	CCDS6363.1	ENSP00000286355	P40145	A0A0K0K1K3	UPI000012887C	NM_001115.2	deleterious(0)		1/18		hmmpanther:PTHR11920:SF320,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	131039870	131039870	G	T	1	0	0	0	0	1	0	0	0	344	1232	43	2		2	ADCY8	8	131039870	Missense_Mutation	SNP	G	11LU016_TP	915764	131039870	14098766	268	324											
OC90	0	.	GRCh38	chr8	132024709	132024709	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttggttaaaggaggcagaGgtcatgcactcagctgccgt	9	10	13	9	1	2	1	2	0	0	1	2	2	2	2	1	4	3	4	1	4	2	2	novel		11LU016_TP	11LU016_NB	G	G																c.1842C>A	p.=	p.T614T	ENST00000262283	18/18	168	134	34	139	139	0	strelka-varscan-mutect	RP11-240B13.2,synonymous_variant,p.=,ENST00000262283,;OC90,synonymous_variant,p.=,ENST00000254627,NM_001080399.2;	T	ENST00000262283	Transcript	synonymous_variant	1942/2413	1842/2070	614/689	T	acC/acA		1		-1	RP11-240B13.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000262283		I6L893	UPI0000E5AF6B				18/18		Gene3D:1.20.90.10,Pfam_domain:PF00068,hmmpanther:PTHR11716,hmmpanther:PTHR11716:SF1,SMART_domains:SM00085,Superfamily_domains:SSF48619																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	132024709	132024709	G	T	1	0	0	0	0	0	0	0	1	10891	987	35	2		2	OC90	8	132024709	Silent	SNP	G	11LU016_TP	984839	132024709	13113927	269	325											
FAM135B	0	.	GRCh38	chr8	138132672	138132672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagcacagcgatgtgagcgGctcggccgatcagggtgttg	7	7	16	11	4	1	1	1	1	0	0	2	3	1	1	2	3	3	3	2	3	0	1	novel		11LU016_TP	11LU016_NB	G	G																c.4142C>A	p.Ala1381Asp	p.A1381D	ENST00000395297	20/20	366	322	44	423	422	1	strelka-varscan	FAM135B,missense_variant,p.Ala1381Asp,ENST00000395297,NM_015912.3;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,3_prime_UTR_variant,,ENST00000276737,;	T	ENST00000395297	Transcript	missense_variant	4313/6962	4142/4221	1381/1406	A/D	gCc/gAc		1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	deleterious(0)		20/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	2	138132672	138132672	G	T	1	0	0	0	0	1	0	0	0	5299	1203	42	2		2	FAM135B	8	138132672	Missense_Mutation	SNP	G	11LU016_TP	6107963	138132672	7005964	270	326											
COL22A1	0	.	GRCh38	chr8	138878191	138878191	+	Missense_Mutation	SNP	C	C	T																															gacccccacacgggtgcggtCggggcccacctcgaaggtgt																								novel		11LU016_TP	11LU016_NB	C	C																c.217G>A	p.Asp73Asn	p.D73N	ENST00000303045	3/65	110	99	11	142	142	0	strelka-varscan	COL22A1,missense_variant,p.Asp73Asn,ENST00000303045,NM_152888.2;COL22A1,missense_variant,p.Asp73Asn,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000484387,;	T	ENST00000303045	Transcript	missense_variant	664/6346	217/4881	73/1626	D/N	Gac/Aac		1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2	tolerated(0.11)		3/65		PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	138878191	138878191	C	T	1	0	0	0	0	1	0	0	0	3469	884	31	1		1	COL22A1	8	138878191	Missense_Mutation	SNP	C	11LU016_TP	745519	138878191	6260445	271	327	9	2									
COL22A1	0	.	GRCh38	chr8	138878192	138878192	+	Silent	SNP	G	G	C																															acccccacacgggtgcggtcGgggcccacctcgaaggtgtc																								rs139880147		11LU016_TP	11LU016_NB	G	G																c.216C>G	p.=	p.P72P	ENST00000303045	3/65	110	99	11	137	137	0	strelka-varscan	COL22A1,synonymous_variant,p.=,ENST00000303045,NM_152888.2;COL22A1,synonymous_variant,p.=,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000484387,;	C	ENST00000303045	Transcript	synonymous_variant	663/6346	216/4881	72/1626	P	ccC/ccG	rs139880147	1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2			3/65		PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	2	138878192	138878192	G	C	1	0	0	0	0	0	0	0	1	3469	1103	39	4		4	COL22A1	8	138878192	Silent	SNP	G	11LU016_TP	1	138878192	6260444	272	328	9	2									
ADGRB1	0	.	GRCh38	chr8	142481280	142481280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctgcgacggtgtgagctgGacgaggaaggcatcgcctac	8	7	15	11	4	0	1	0	1	0	0	2	5	1	3	2	4	3	2	2	4	2	1	novel		11LU016_TP	11LU016_NB	G	G																c.1855G>T	p.Asp619Tyr	p.D619Y	ENST00000517894	10/31	246	203	43	281	280	1	strelka-varscan	ADGRB1,missense_variant,p.Asp619Tyr,ENST00000517894,;ADGRB1,missense_variant,p.Asp619Tyr,ENST00000323289,NM_001702.2;ADGRB1,missense_variant,p.Asp619Tyr,ENST00000521208,;ADGRB1,non_coding_transcript_exon_variant,,ENST00000518820,;	T	ENST00000517894	Transcript	missense_variant	2749/6241	1855/4755	619/1584	D/Y	Gac/Tac		1		1	ADGRB1	HGNC	HGNC:943	protein_coding	YES	CCDS64985.1	ENSP00000430945	O14514		UPI00002109E8		deleterious(0)		10/31		PROSITE_profiles:PS50227,Pfam_domain:PF02793,SMART_domains:SM00008																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	2	142481280	142481280	G	T	1	0	0	0	0	1	0	0	0	355	1174	41	2		2	ADGRB1	8	142481280	Missense_Mutation	SNP	G	11LU016_TP	3603088	142481280	2657356	273	329											
ARC	0	.	GRCh38	chr8	142613254	142613254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccagggtcttgggcagggGgtggcgcaggaaacgcttga	7	7	18	9	2	1	1	0	1	1	0	2	2	2	2	1	6	1	3	1	6	1	2	novel		11LU016_TP	11LU016_NB	G	G																c.1018C>A	p.Pro340Thr	p.P340T	ENST00000356613	1/3	186	175	11	202	202	0	strelka-varscan	ARC,missense_variant,p.Pro340Thr,ENST00000356613,NM_015193.4;ARC,upstream_gene_variant,,ENST00000581404,;	T	ENST00000356613	Transcript	missense_variant	1219/2948	1018/1191	340/396	P/T	Ccc/Acc		1		-1	ARC	HGNC	HGNC:648	protein_coding	YES	CCDS34950.1	ENSP00000349022	Q7LC44		UPI0000163B0F	NM_015193.4	tolerated(0.07)		1/3		hmmpanther:PTHR15962																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	142613254	142613254	G	T	1	0	0	0	0	1	0	0	0	963	1232	43	2		2	ARC	8	142613254	Missense_Mutation	SNP	G	11LU016_TP	131974	142613254	2525382	274	330											
WDR97	0	.	GRCh38	chr8	144110240	144110240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatcgcatccacctggaaCagcattgtgtcttcgggtca	8	10	10	13	2	2	0	1	0	1	0	5	1	3	1	3	2	2	2	3	2	1	2	novel		11LU016_TP	11LU016_NB	C	C																c.1827C>A	p.Asn609Lys	p.N609K	ENST00000323662	6/24	143	114	29	171	171	0	strelka-varscan	WDR97,missense_variant,p.Asn609Lys,ENST00000323662,;MAF1,downstream_gene_variant,,ENST00000534585,;MAF1,downstream_gene_variant,,ENST00000322428,NM_032272.4;MAF1,downstream_gene_variant,,ENST00000532522,;MAF1,downstream_gene_variant,,ENST00000527058,;MAF1,downstream_gene_variant,,ENST00000527572,;MAF1,downstream_gene_variant,,ENST00000534811,;WDR97,non_coding_transcript_exon_variant,,ENST00000533108,;SHARPIN,upstream_gene_variant,,ENST00000533184,;WDR97,missense_variant,p.Asn609Lys,ENST00000534167,;WDR97,non_coding_transcript_exon_variant,,ENST00000528691,;WDR97,non_coding_transcript_exon_variant,,ENST00000525150,;WDR97,upstream_gene_variant,,ENST00000529209,;	A	ENST00000323662	Transcript	missense_variant	1852/6916	1827/4869	609/1622	N/K	aaC/aaA		1		1	WDR97	HGNC	HGNC:26959	protein_coding	YES		ENSP00000320648	A6NE52		UPI000173AA02		deleterious(0.01)		6/24		Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF497,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	2	144110240	144110240	C	A	1	0	0	0	0	1	0	0	0	17897	477	17	2		2	WDR97	8	144110240	Missense_Mutation	SNP	C	11LU016_TP	1496986	144110240	1028396	275	331											
LRRC24	0	.	GRCh38	chr8	144522728	144522728	+	Missense_Mutation	SNP	C	C	T																															cccgcgccttttttcgcctgCggcgccggcgacagatcatg																								novel		11LU016_TP	11LU016_NB	C	C																c.1289G>A	p.Arg430His	p.R430H	ENST00000529415	5/5	223	195	28	290	290	0	strelka-varscan	LRRC24,missense_variant,p.Arg430His,ENST00000529415,NM_001024678.3;LRRC24,missense_variant,p.Arg427His,ENST00000533758,;LRRC14,3_prime_UTR_variant,,ENST00000292524,NM_014665.3;RECQL4,upstream_gene_variant,,ENST00000621189,;RECQL4,upstream_gene_variant,,ENST00000617875,NM_004260.3;C8orf82,downstream_gene_variant,,ENST00000524821,NM_001001795.1;LRRC14,downstream_gene_variant,,ENST00000529022,NM_001272036.1;C8orf82,downstream_gene_variant,,ENST00000313465,;LRRC14,downstream_gene_variant,,ENST00000527730,;C8orf82,downstream_gene_variant,,ENST00000532827,;LRRC14,downstream_gene_variant,,ENST00000530854,;LRRC14,downstream_gene_variant,,ENST00000525766,;LRRC14,non_coding_transcript_exon_variant,,ENST00000528528,;LRRC14,upstream_gene_variant,,ENST00000529995,;LRRC14,upstream_gene_variant,,ENST00000530242,;C8orf82,downstream_gene_variant,,ENST00000534680,;LRRC14,downstream_gene_variant,,ENST00000531310,;	T	ENST00000529415	Transcript	missense_variant	1407/1758	1289/1542	430/513	R/H	cGc/cAc		1		-1	LRRC24	HGNC	HGNC:28947	protein_coding	YES	CCDS34969.1	ENSP00000434849	Q50LG9		UPI0000419443	NM_001024678.3	tolerated(0.11)		5/5		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF255,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	144522728	144522728	C	T	1	0	0	0	0	1	0	0	0	8874	768	27	1		1	LRRC24	8	144522728	Missense_Mutation	SNP	C	11LU016_TP	412488	144522728	615908	276	332	10	2									
LRRC24	0	.	GRCh38	chr8	144522729	144522729	+	Missense_Mutation	SNP	G	G	T																															ccgcgccttttttcgcctgcGgcgccggcgacagatcatgg																								rs372575761		11LU016_TP	11LU016_NB	G	G																c.1288C>A	p.Arg430Ser	p.R430S	ENST00000529415	5/5	224	197	27	283	283	0	strelka-varscan	LRRC24,missense_variant,p.Arg430Ser,ENST00000529415,NM_001024678.3;LRRC24,missense_variant,p.Arg427Ser,ENST00000533758,;LRRC14,3_prime_UTR_variant,,ENST00000292524,NM_014665.3;RECQL4,upstream_gene_variant,,ENST00000621189,;RECQL4,upstream_gene_variant,,ENST00000617875,NM_004260.3;C8orf82,downstream_gene_variant,,ENST00000524821,NM_001001795.1;LRRC14,downstream_gene_variant,,ENST00000529022,NM_001272036.1;C8orf82,downstream_gene_variant,,ENST00000313465,;LRRC14,downstream_gene_variant,,ENST00000527730,;C8orf82,downstream_gene_variant,,ENST00000532827,;LRRC14,downstream_gene_variant,,ENST00000530854,;LRRC14,downstream_gene_variant,,ENST00000525766,;LRRC14,non_coding_transcript_exon_variant,,ENST00000528528,;LRRC14,upstream_gene_variant,,ENST00000529995,;LRRC14,upstream_gene_variant,,ENST00000530242,;C8orf82,downstream_gene_variant,,ENST00000534680,;LRRC14,downstream_gene_variant,,ENST00000531310,;	T	ENST00000529415	Transcript	missense_variant	1406/1758	1288/1542	430/513	R/S	Cgc/Agc	rs372575761	1		-1	LRRC24	HGNC	HGNC:28947	protein_coding	YES	CCDS34969.1	ENSP00000434849	Q50LG9		UPI0000419443	NM_001024678.3	deleterious(0.01)		5/5		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF255,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	144522729	144522729	G	T	1	0	0	0	0	1	0	0	0	8874	1116	39	1		1	LRRC24	8	144522729	Missense_Mutation	SNP	G	11LU016_TP	1	144522729	615907	277	333	10	2									
ZNF16	0	.	GRCh38	chr8	144931312	144931312	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggccttcccacagacaCtgcatctgtacggcttctct	8	11	8	14	1	2	2	0	1	2	1	4	2	3	2	2	2	2	3	2	2	2	3	novel		11LU016_TP	11LU016_NB	C	C																c.1475G>C	p.Ser492Thr	p.S492T	ENST00000276816	4/4	121	108	13	125	125	0	strelka-varscan	ZNF16,missense_variant,p.Ser492Thr,ENST00000276816,NM_001029976.2;ZNF16,missense_variant,p.Ser492Thr,ENST00000611477,NM_006958.2;ZNF16,missense_variant,p.Ser492Thr,ENST00000394909,;ZNF16,downstream_gene_variant,,ENST00000532351,;ZNF16,downstream_gene_variant,,ENST00000527811,;ZNF16,downstream_gene_variant,,ENST00000532811,;ZNF16,downstream_gene_variant,,ENST00000527512,;	G	ENST00000276816	Transcript	missense_variant	1662/2616	1475/2049	492/682	S/T	aGt/aCt		1		-1	ZNF16	HGNC	HGNC:12947	protein_coding	YES	CCDS6437.1	ENSP00000276816	P17020		UPI00001E058F	NM_001029976.2	tolerated(0.09)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF269,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	144931312	144931312	C	G	1	0	0	0	0	1	0	0	0	18319	565	20	4		4	ZNF16	8	144931312	Missense_Mutation	SNP	C	11LU016_TP	408583	144931312	207324	278	334											
ZNF16	0	.	GRCh38	chr8	144932090	144932090	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacataaaggaagcctcccCagtgtggactatttgacgct	12	9	9	11	1	0	1	0	1	0	0	1	3	1	3	3	2	1	1	3	2	4	3			11LU016_TP	11LU016_NB	C	C																c.697G>T	p.Gly233Trp	p.G233W	ENST00000276816	4/4	257	222	35	321	321	0	strelka-varscan	ZNF16,missense_variant,p.Gly233Trp,ENST00000276816,NM_001029976.2;ZNF16,missense_variant,p.Gly233Trp,ENST00000611477,NM_006958.2;ZNF16,missense_variant,p.Gly233Trp,ENST00000394909,;ZNF16,downstream_gene_variant,,ENST00000532351,;ZNF16,downstream_gene_variant,,ENST00000527811,;ZNF16,downstream_gene_variant,,ENST00000532811,;ZNF16,downstream_gene_variant,,ENST00000527512,;	A	ENST00000276816	Transcript	missense_variant	884/2616	697/2049	233/682	G/W	Ggg/Tgg	COSM340294	1		-1	ZNF16	HGNC	HGNC:12947	protein_coding	YES	CCDS6437.1	ENSP00000276816	P17020		UPI00001E058F	NM_001029976.2	deleterious(0)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF269,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	2	144932090	144932090	C	A	1	0	0	0	0	1	0	0	0	18319	594	21	2		2	ZNF16	8	144932090	Missense_Mutation	SNP	C	11LU016_TP	778	144932090	206546	279	335											
IL33	0	.	GRCh38	chr9	6253550	6253550	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattttatgcattctctttcAgataaggtgttactgagtta	10	18	8	5	0	2	2	1	1	1	1	3	3	2	2	0	1	2	3	0	1	4	7	novel		11LU016_TP	11LU016_NB	A	A																c.470-2A>T		p.X157_splice	ENST00000381434		138	116	22	138	138	0	strelka-varscan-mutect	IL33,splice_acceptor_variant,,ENST00000381434,NM_001314046.1,NM_001314047.1,NM_001314044.1,NM_001314045.1,NM_033439.3;IL33,splice_acceptor_variant,,ENST00000456383,NM_001199640.1;IL33,splice_acceptor_variant,,ENST00000417746,NM_001199641.1;IL33,splice_acceptor_variant,,ENST00000611532,;	T	ENST00000381434	Transcript	splice_acceptor_variant	-/2641	470/813	157/270				1		1	IL33	HGNC	HGNC:16028	protein_coding	YES	CCDS6468.1	ENSP00000370842	O95760		UPI000000DBB2	NM_001314046.1,NM_001314047.1,NM_001314044.1,NM_001314045.1,NM_033439.3				4/6																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	2	6253550	6253550	A	T	1	0	0	0	0	0	0	1	0	7592	202	7	4		4	IL33	9	6253550	Splice_Site	SNP	A	11LU016_TP		6253550	132141167	280	336											
PTPRD	0	.	GRCh38	chr9	8633357	8633357	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatacacttatttctccCacattatttgaggccacaca	11	13	6	11	0	1	1	0	1	1	0	2	2	1	2	2	2	1	0	2	2	3	5	novel		11LU016_TP	11LU016_NB	C	C																c.312G>A	p.=	p.V104V	ENST00000381196	11/43	105	82	23	126	126	0	strelka-varscan-mutect	PTPRD,synonymous_variant,p.=,ENST00000381196,NM_002839.3;PTPRD,synonymous_variant,p.=,ENST00000356435,;PTPRD,synonymous_variant,p.=,ENST00000355233,NM_130392.3;PTPRD,synonymous_variant,p.=,ENST00000397617,;PTPRD,synonymous_variant,p.=,ENST00000397611,NM_001040712.2;PTPRD,synonymous_variant,p.=,ENST00000537002,NM_130393.3;PTPRD,synonymous_variant,p.=,ENST00000540109,;PTPRD,synonymous_variant,p.=,ENST00000486161,NM_130391.3;PTPRD,synonymous_variant,p.=,ENST00000397606,NM_001171025.1;PTPRD,synonymous_variant,p.=,ENST00000463477,;PTPRD,downstream_gene_variant,,ENST00000481079,;PTPRD,non_coding_transcript_exon_variant,,ENST00000488774,;	T	ENST00000381196	Transcript	synonymous_variant	856/9911	312/5739	104/1912	V	gtG/gtA		1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3			11/43		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF313,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	2	8633357	8633357	C	T	1	0	0	0	0	0	0	0	1	12953	581	21	3		3	PTPRD	9	8633357	Silent	SNP	C	11LU016_TP	2379807	8633357	129761360	281	337											
BNC2	0	.	GRCh38	chr9	16437285	16437285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgctggaaggattgctGttctctaagtgagcaaggag	11	11	14	5	0	1	2	0	2	1	0	2	5	1	5	0	3	3	4	0	3	4	3	novel		11LU016_TP	11LU016_NB	G	G																c.909C>A	p.Asn303Lys	p.N303K	ENST00000380672	6/7	255	242	13	223	223	0	strelka-varscan-mutect	BNC2,missense_variant,p.Asn303Lys,ENST00000380672,NM_001317940.1,NM_017637.5;BNC2,missense_variant,p.Asn129Lys,ENST00000545497,;BNC2,missense_variant,p.Asn260Lys,ENST00000418777,;BNC2,missense_variant,p.Asn236Lys,ENST00000380667,;BNC2,missense_variant,p.Asn225Lys,ENST00000380666,;BNC2,missense_variant,p.Asn225Lys,ENST00000603713,;BNC2,upstream_gene_variant,,ENST00000411752,;BNC2,missense_variant,p.Asn303Lys,ENST00000484726,;	T	ENST00000380672	Transcript	missense_variant	967/12844	909/3300	303/1099	N/K	aaC/aaA		1		-1	BNC2	HGNC	HGNC:30988	protein_coding	YES	CCDS6482.2	ENSP00000370047	Q6ZN30		UPI000035E7B0	NM_001317940.1,NM_017637.5	tolerated(1)		6/7		hmmpanther:PTHR15021:SF2,hmmpanther:PTHR15021																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	2	16437285	16437285	G	T	1	0	0	0	0	1	0	0	0	1631	1368	48	2		2	BNC2	9	16437285	Missense_Mutation	SNP	G	11LU016_TP	7803928	16437285	121957432	282	338											
ADAMTSL1	0	.	GRCh38	chr9	18777612	18777612	+	Frame_Shift_Del	DEL	C	C	-																															gccctcggagcgcaggacttCcccagtgactctctcgcctc																								novel		11LU016_TP	11LU016_NB	C	C																c.3386delC	p.Pro1129GlnfsTer2	p.P1129Qfs*2	ENST00000380548	19/29	184	143	41	216	216	0	sindel-varindel-pindel	ADAMTSL1,frameshift_variant,p.Pro1129GlnfsTer2,ENST00000380548,NM_001040272.5;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;	-	ENST00000380548	Transcript	frameshift_variant	3722/8030	3383/5289	1128/1762	S/X	tCc/tc		1		1	ADAMTSL1	HGNC	HGNC:14632	protein_coding	YES	CCDS47954.1	ENSP00000369921	Q8N6G6		UPI000004FD83	NM_001040272.5			19/29																			HIGH	1	deletion	5	3		1										PASS		.	.												-	7	5	2	18777612	18777612	C	-	1	0	1	0	1	0	0	0	0	318	855	30	0		0	ADAMTSL1	9	18777612	Frame_Shift_Del	DEL	C	11LU016_TP	2340327	18777612	119617105	283	339											
HAUS6	0	.	GRCh38	chr9	19058632	19058632	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacagcaggggagaatgtcTccattcggctagtttctgaa	10	10	12	9	2	2	2	0	1	2	1	4	4	2	2	1	3	1	3	1	3	3	3	novel		11LU016_TP	11LU016_NB	T	T																c.2135A>T	p.Glu712Val	p.E712V	ENST00000380502	16/17	92	76	16	76	76	0	strelka-varscan-mutect	HAUS6,missense_variant,p.Glu712Val,ENST00000380502,NM_001270890.1,NM_017645.4;HAUS6,missense_variant,p.Glu576Val,ENST00000380496,;HAUS6,downstream_gene_variant,,ENST00000415524,;	A	ENST00000380502	Transcript	missense_variant	2603/6536	2135/2868	712/955	E/V	gAg/gTg		1		-1	HAUS6	HGNC	HGNC:25948	protein_coding	YES	CCDS6489.1	ENSP00000369871	Q7Z4H7		UPI00000740C7	NM_001270890.1,NM_017645.4	tolerated(0.06)		16/17		hmmpanther:PTHR16151																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	19058632	19058632	T	A	1	0	0	0	0	1	0	0	0	6856	1551	54	4		4	HAUS6	9	19058632	Missense_Mutation	SNP	T	11LU016_TP	281020	19058632	119336085	284	340											
TAF1L	0	.	GRCh38	chr9	32632190	32632190	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagctgagagctggttttCttgttctgcaacatgttctc	7	15	10	9	0	3	1	0	1	3	1	4	3	3	1	0	1	4	6	0	1	1	5	novel		11LU016_TP	11LU016_NB	C	C																c.3390G>C	p.Lys1130Asn	p.K1130N	ENST00000242310	1/1	263	240	23	227	227	0	varscan-mutect	TAF1L,missense_variant,p.Lys1130Asn,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;	G	ENST00000242310	Transcript	missense_variant	3480/6216	3390/5481	1130/1826	K/N	aaG/aaC		1		-1	TAF1L	HGNC	HGNC:18056	protein_coding	YES	CCDS35003.1	ENSP00000418379	Q8IZX4		UPI000007408A	NM_153809.2	tolerated(0.13)		1/1		PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0																	MODERATE		SNV				1										PASS		.	.												G	3	3	2	32632190	32632190	C	G	1	0	0	0	0	1	0	0	0	15919	912	32	4		4	TAF1L	9	32632190	Missense_Mutation	SNP	C	11LU016_TP	13573558	32632190	105762527	285	341											
TAF1L	0	.	GRCh38	chr9	32632520	32632520	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtagaagttgcttggcattTttcagggaaaggcgacgaag	11	10	14	6	3	1	1	1	0	0	1	1	4	1	2	0	3	1	4	0	3	4	5	novel		11LU016_TP	11LU016_NB	T	T																c.3060A>T	p.Lys1020Asn	p.K1020N	ENST00000242310	1/1	439	383	56	371	371	0	strelka-varscan-mutect	TAF1L,missense_variant,p.Lys1020Asn,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;	A	ENST00000242310	Transcript	missense_variant	3150/6216	3060/5481	1020/1826	K/N	aaA/aaT		1		-1	TAF1L	HGNC	HGNC:18056	protein_coding	YES	CCDS35003.1	ENSP00000418379	Q8IZX4		UPI000007408A	NM_153809.2	tolerated(0.35)		1/1		Pfam_domain:PF12157,PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0																	MODERATE		SNV				1										PASS		.	.												A	3	1	2	32632520	32632520	T	A	1	0	0	0	0	1	0	0	0	15919	1838	64	4		4	TAF1L	9	32632520	Missense_Mutation	SNP	T	11LU016_TP	330	32632520	105762197	286	342											
CNTNAP3B	0	.	GRCh38	chr9	41998501	41998501	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaattccattgctctgcatGgctttaaatttcaaagaaat	14	14	6	7	0	2	2	1	0	1	2	3	2	3	2	1	1	2	3	1	1	5	5	novel		11LU016_TP	11LU016_NB	G	G																c.642C>A	p.=	p.A214A	ENST00000377561	5/24	132	110	22	92	92	0	strelka-varscan	CNTNAP3B,synonymous_variant,p.=,ENST00000612828,;CNTNAP3B,synonymous_variant,p.=,ENST00000377561,NM_001201380.2;CNTNAP3B,synonymous_variant,p.=,ENST00000276974,;CNTNAP3B,synonymous_variant,p.=,ENST00000341990,;CNTNAP3B,synonymous_variant,p.=,ENST00000617422,;CNTNAP3B,synonymous_variant,p.=,ENST00000619138,;CNTNAP3B,synonymous_variant,p.=,ENST00000479351,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000618777,;	T	ENST00000377561	Transcript	synonymous_variant	1035/5379	642/3867	214/1288	A	gcC/gcA		1		-1	CNTNAP3B	HGNC	HGNC:32035	protein_coding	YES	CCDS75836.1	ENSP00000478671		A0A087WUH3	UPI00043788D3	NM_001201380.2			5/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,SMART_domains:SM00282,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	41998501	41998501	G	T	1	0	0	0	0	0	0	0	1	3430	1335	47	2		2	CNTNAP3B	9	41998501	Silent	SNP	G	11LU016_TP	9365981	41998501	96396216	287	343											
SPATA31A3	0	.	GRCh38	chr9	66987366	66987366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccaaattctctgaagcGtggggcacaacagatgcttg	13	8	11	9	1	1	2	0	1	1	1	2	3	1	2	1	2	4	2	1	2	4	2	novel		11LU016_TP	11LU016_NB	G	G																c.3132C>A	p.His1044Gln	p.H1044Q	ENST00000428649	4/4	214	181	33	256	255	1	strelka-varscan	SPATA31A3,missense_variant,p.His1044Gln,ENST00000428649,NM_001083124.1;RP11-395E19.2,non_coding_transcript_exon_variant,,ENST00000616253,;	T	ENST00000428649	Transcript	missense_variant	3194/4256	3132/4044	1044/1347	H/Q	caC/caA		1		-1	SPATA31A3	HGNC	HGNC:32003	protein_coding	YES	CCDS78400.1	ENSP00000485118	Q5VYP0		UPI00004588FC	NM_001083124.1	tolerated(0.12)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	66987366	66987366	G	T	1	0	0	0	0	1	0	0	0	15344	1136	40	1		1	SPATA31A3	9	66987366	Missense_Mutation	SNP	G	11LU016_TP	24988865	66987366	71407351	288	344											
SPATA31D1	0	.	GRCh38	chr9	81994082	81994083	+	Frame_Shift_Ins	INS	-	-	T																															cataccttaaaaatcagatgINSttgagccagttaaagttggt																								novel		11LU016_TP	11LU016_NB	-	-																c.3614dupT	p.Leu1205PhefsTer12	p.L1205Ffs*12	ENST00000344803	4/4	98	81	17	102	102	0	sindel-varindel-pindel	SPATA31D1,frameshift_variant,p.Leu1205PhefsTer12,ENST00000344803,NM_001001670.2;RP11-15B24.5,intron_variant,,ENST00000637606,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	T	ENST00000344803	Transcript	frameshift_variant	3659-3660/4833	3612-3613/4731	1204-1205/1576	-/X	-/T		1		1	SPATA31D1	HGNC	HGNC:37283	protein_coding	YES	CCDS47986.1	ENSP00000341988	Q6ZQQ2		UPI00001C10A6	NM_001001670.2			4/4		hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859																	HIGH	1	insertion	2	2		1										PASS		.	.												T	7	5	2	81994082	81994082	-	T	1	0	1	1	0	0	0	0	0	15347	1377	48	0		0	SPATA31D1	9	81994082	Frame_Shift_Ins	INS	-	11LU016_TP	15006716	81994082	56400635	289	345											
SPATA31D1	0	.	GRCh38	chr9	81995113	81995113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcccaaccagtgctaaaaGccctgtgtttagtgatgtgc	9	11	10	11	1	0	1	0	1	0	0	1	1	1	1	3	0	4	2	3	0	4	3	novel		11LU016_TP	11LU016_NB	G	G																c.4643G>A	p.Ser1548Asn	p.S1548N	ENST00000344803	4/4	146	122	24	127	127	0	strelka-varscan	SPATA31D1,missense_variant,p.Ser1548Asn,ENST00000344803,NM_001001670.2;RP11-15B24.5,intron_variant,,ENST00000637606,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	A	ENST00000344803	Transcript	missense_variant	4690/4833	4643/4731	1548/1576	S/N	aGc/aAc		1		1	SPATA31D1	HGNC	HGNC:37283	protein_coding	YES	CCDS47986.1	ENSP00000341988	Q6ZQQ2		UPI00001C10A6	NM_001001670.2	tolerated(0.25)		4/4		hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	2	81995113	81995113	G	A	1	0	0	0	0	1	0	0	0	15347	971	34	3		3	SPATA31D1	9	81995113	Missense_Mutation	SNP	G	11LU016_TP	1031	81995113	56399604	290	346											
NTRK2	0	.	GRCh38	chr9	84723572	84723572	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacttttcttgttccataGgtttgccatctgcaaatctg	7	19	6	9	0	3	0	0	0	3	0	4	0	4	0	2	1	3	3	2	1	3	8			11LU016_TP	11LU016_NB	G	G																c.584-1G>T		p.X195_splice	ENST00000277120		387	304	83	300	300	0	strelka-varscan	NTRK2,splice_acceptor_variant,,ENST00000277120,;NTRK2,splice_acceptor_variant,,ENST00000304053,NM_001018065.2;NTRK2,splice_acceptor_variant,,ENST00000376208,NM_001018066.2;NTRK2,splice_acceptor_variant,,ENST00000395882,NM_001291937.1,NM_001007097.2;NTRK2,splice_acceptor_variant,,ENST00000359847,;NTRK2,splice_acceptor_variant,,ENST00000376214,NM_006180.4;NTRK2,splice_acceptor_variant,,ENST00000376213,;NTRK2,splice_acceptor_variant,,ENST00000323115,NM_001018064.2;	T	ENST00000277120	Transcript	splice_acceptor_variant	-/8633	584/2517	195/838			COSM753996	1		1	NTRK2	HGNC	HGNC:8032	protein_coding	YES	CCDS6671.1	ENSP00000277120	Q16620	A0A024R230	UPI000006FA0D					6/18												1						HIGH	1	SNV	1		1	1										PASS		.	.												T	5	4	2	84723572	84723572	G	T	1	0	0	0	0	0	0	1	0	10773	1014	35	2		2	NTRK2	9	84723572	Splice_Site	SNP	G	11LU016_TP	2728459	84723572	53671145	291	347											
COL15A1	0	.	GRCh38	chr9	99000922	99000922	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagcggctcaggggctGgggccttccttgacattgct	5	10	14	12	1	1	2	1	2	0	0	2	2	2	2	2	5	2	3	2	5	0	3	novel		11LU016_TP	11LU016_NB	G	G																c.1036G>C	p.Gly346Arg	p.G346R	ENST00000375001	7/42	130	105	25	191	191	0	strelka-varscan	COL15A1,missense_variant,p.Gly346Arg,ENST00000375001,NM_001855.4;COL15A1,missense_variant,p.Gly332Arg,ENST00000610452,;	C	ENST00000375001	Transcript	missense_variant	1459/5496	1036/4167	346/1388	G/R	Ggg/Cgg		1		1	COL15A1	HGNC	HGNC:2192	protein_coding	YES	CCDS35081.1	ENSP00000364140	P39059		UPI0000211506	NM_001855.4	tolerated_low_confidence(0.1)		7/42																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	2	99000922	99000922	G	C	1	0	0	0	0	1	0	0	0	3460	1348	47	4		4	COL15A1	9	99000922	Missense_Mutation	SNP	G	11LU016_TP	14277350	99000922	39393795	292	348											
FKTN	0	.	GRCh38	chr9	105601174	105601174	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatttattatgttaacAtccaaccaaaatgtaccagt	19	12	3	7	0	0	0	0	0	0	0	1	0	1	0	3	0	3	2	3	0	10	5	novel		11LU016_TP	11LU016_NB	A	A																c.195A>T	p.=	p.T65T	ENST00000223528	4/10	135	123	12	133	133	0	strelka-varscan	FKTN,synonymous_variant,p.=,ENST00000223528,NM_006731.2;FKTN,synonymous_variant,p.=,ENST00000602661,NM_001079802.1;FKTN,synonymous_variant,p.=,ENST00000357998,;FKTN,synonymous_variant,p.=,ENST00000448551,NM_001198963.1;FKTN,synonymous_variant,p.=,ENST00000374705,;FKTN,downstream_gene_variant,,ENST00000490134,;FKTN,3_prime_UTR_variant,,ENST00000602526,;	T	ENST00000223528	Transcript	synonymous_variant	319/7364	195/1386	65/461	T	acA/acT		1		1	FKTN	HGNC	HGNC:3622	protein_coding	YES	CCDS6766.1	ENSP00000223528	O75072		UPI000012A5A6	NM_006731.2			4/10		hmmpanther:PTHR15407																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	105601174	105601174	A	T	1	0	0	0	0	0	0	0	1	5781	204	8	4		4	FKTN	9	105601174	Silent	SNP	A	11LU016_TP	6600252	105601174	32793543	293	349											
TMEM245	0	.	GRCh38	chr9	109091142	109091142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacgttggagcggattctccCctgtccactgcttctgaaaa	9	11	9	12	2	2	1	0	1	2	0	4	3	3	3	3	2	3	2	3	2	3	3	novel		11LU016_TP	11LU016_NB	C	C																c.930G>T	p.Arg310Ser	p.R310S	ENST00000374586	5/18	142	116	26	174	174	0	strelka-varscan	TMEM245,missense_variant,p.Arg310Ser,ENST00000374586,NM_032012.3;TMEM245,upstream_gene_variant,,ENST00000413712,;TMEM245,missense_variant,p.Arg60Ser,ENST00000491854,;	A	ENST00000374586	Transcript	missense_variant	962/7980	930/2640	310/879	R/S	agG/agT		1		-1	TMEM245	HGNC	HGNC:1363	protein_coding	YES	CCDS43858.1	ENSP00000363714	Q9H330		UPI000013C833	NM_032012.3	tolerated(0.86)		5/18																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	109091142	109091142	C	A	1	0	0	0	0	1	0	0	0	16605	622	22	2		2	TMEM245	9	109091142	Missense_Mutation	SNP	C	11LU016_TP	3489968	109091142	29303575	294	350											
PAPPA	0	.	GRCh38	chr9	116235506	116235506	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggagatcgatgctgcCatgttgacctccactgcaga	9	9	10	13	1	0	3	0	1	0	2	2	5	1	3	4	1	3	3	4	1	0	1	novel		11LU016_TP	11LU016_NB	C	C																c.2601C>A	p.=	p.A867A	ENST00000328252	7/22	212	173	39	272	271	1	strelka-varscan	PAPPA,synonymous_variant,p.=,ENST00000328252,NM_002581.3;	A	ENST00000328252	Transcript	synonymous_variant	2970/10959	2601/4884	867/1627	A	gcC/gcA		1		1	PAPPA	HGNC	HGNC:8602	protein_coding	YES	CCDS6813.1	ENSP00000330658	Q13219		UPI00001E0589	NM_002581.3			7/22		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	116235506	116235506	C	A	1	0	0	0	0	0	0	0	1	11512	581	21	2		2	PAPPA	9	116235506	Silent	SNP	C	11LU016_TP	7144364	116235506	22159211	295	351											
COL5A1	0	.	GRCh38	chr9	134731627	134731627	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccgtcggagatcgggccGggaatgccggcgaaccagga	8	4	16	13	6	0	1	0	0	0	1	3	5	1	3	5	5	2	0	5	5	2	0	rs774882530		11LU016_TP	11LU016_NB	G	G																c.1296G>T	p.=	p.P432P	ENST00000371817	8/66	184	131	53	148	147	1	strelka-varscan	COL5A1,synonymous_variant,p.=,ENST00000371817,NM_000093.4;COL5A1,synonymous_variant,p.=,ENST00000618395,NM_001278074.1;COL5A1,non_coding_transcript_exon_variant,,ENST00000469093,;	T	ENST00000371817	Transcript	synonymous_variant	1710/8471	1296/5517	432/1838	P	ccG/ccT	rs774882530	1		1	COL5A1	HGNC	HGNC:2209	protein_coding	YES	CCDS6982.1	ENSP00000360882	P20908	A0A024R8E5	UPI0000210EE3	NM_000093.4			8/66																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	134731627	134731627	G	T	1	0	0	0	0	0	0	0	1	3485	1103	39	1		1	COL5A1	9	134731627	Silent	SNP	G	11LU016_TP	18496121	134731627	3663090	296	352											
FCN1	0	.	GRCh38	chr9	134909401	134909401	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgccctgtgtcaattacTggaggtggaaaatcctcgca	10	10	11	10	2	1	0	1	0	0	0	4	3	2	2	2	3	1	1	2	3	4	1	novel		11LU016_TP	11LU016_NB	T	T																c.852A>T	p.=	p.P284P	ENST00000616356	8/8	288	229	59	313	313	0	strelka-varscan	FCN1,synonymous_variant,p.=,ENST00000616356,;FCN1,downstream_gene_variant,,ENST00000371806,NM_002003.3;	A	ENST00000616356	Transcript	synonymous_variant	858/4369	852/1083	284/360	P	ccA/ccT		1		-1	FCN1	HGNC	HGNC:3623	protein_coding			ENSP00000479379		A0A087WVE2	UPI00015E02A0				8/8																			LOW		SNV	1			1										PASS		.	.												A	2	1	2	134909401	134909401	T	A	1	0	0	0	0	0	0	0	1	5654	1567	55	4		4	FCN1	9	134909401	Silent	SNP	T	11LU016_TP	177774	134909401	3485316	297	353											
OLFM1	0	.	GRCh38	chr9	135119591	135119591	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacacggacaatttcaccTcccaccgtctcccccacccc	9	7	4	21	2	2	1	1	1	1	0	4	2	3	2	7	1	1	0	7	1	2	1	novel		11LU016_TP	11LU016_NB	T	T																c.871T>C	p.Ser291Pro	p.S291P	ENST00000371793	6/6	172	160	12	197	197	0	strelka-varscan	OLFM1,missense_variant,p.Ser273Pro,ENST00000252854,NM_014279.4;OLFM1,missense_variant,p.Ser264Pro,ENST00000371796,NM_001282612.1;OLFM1,missense_variant,p.Ser291Pro,ENST00000371793,NM_001282611.1;OLFM1,missense_variant,p.Ser188Pro,ENST00000539877,;OLFM1,3_prime_UTR_variant,,ENST00000545657,;OLFM1,non_coding_transcript_exon_variant,,ENST00000483042,;	C	ENST00000371793	Transcript	missense_variant	1122/2444	871/1458	291/485	S/P	Tcc/Ccc		1		1	OLFM1	HGNC	HGNC:17187	protein_coding	YES	CCDS65184.1	ENSP00000360858	Q99784		UPI000013DB05	NM_001282611.1	tolerated(0.08)		6/6		PROSITE_profiles:PS51132,hmmpanther:PTHR23192:SF34,hmmpanther:PTHR23192,Pfam_domain:PF02191,SMART_domains:SM00284																	MODERATE	1	SNV	3			1										PASS		.	.												C	3	2	2	135119591	135119591	T	C	1	0	0	0	0	1	0	0	0	10927	1551	54	5		5	OLFM1	9	135119591	Missense_Mutation	SNP	T	11LU016_TP	210190	135119591	3275126	298	354											
PPP1R26	0	.	GRCh38	chr9	135485205	135485205	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagggcggaaatagaacAgtttctgaatgagaagagac	16	7	12	6	1	2	4	1	2	1	3	2	7	2	5	0	2	1	1	0	2	5	2	novel		11LU016_TP	11LU016_NB	A	A																c.695A>T	p.Gln232Leu	p.Q232L	ENST00000356818	4/4	171	143	28	229	229	0	strelka-varscan	PPP1R26,missense_variant,p.Gln232Leu,ENST00000356818,NM_014811.3;PPP1R26,missense_variant,p.Gln232Leu,ENST00000401470,;PPP1R26,missense_variant,p.Gln232Leu,ENST00000605286,;PPP1R26,missense_variant,p.Gln232Leu,ENST00000604351,;PPP1R26,missense_variant,p.Gln232Leu,ENST00000605660,;PPP1R26-AS1,upstream_gene_variant,,ENST00000455039,;PPP1R26-AS1,upstream_gene_variant,,ENST00000603893,;PPP1R26-AS1,upstream_gene_variant,,ENST00000605260,;PPP1R26,intron_variant,,ENST00000602993,;	T	ENST00000356818	Transcript	missense_variant	1244/4932	695/3630	232/1209	Q/L	cAg/cTg		1		1	PPP1R26	HGNC	HGNC:29089	protein_coding	YES	CCDS6988.1	ENSP00000349274	Q5T8A7		UPI000013DB17	NM_014811.3	deleterious(0)		4/4		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15740,hmmpanther:PTHR15724																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	135485205	135485205	A	T	1	0	0	0	0	1	0	0	0	12484	188	7	4		4	PPP1R26	9	135485205	Missense_Mutation	SNP	A	11LU016_TP	365614	135485205	2909512	299	355											
SEC16A	0	.	GRCh38	chr9	136441819	136441819	+	Frame_Shift_Del	DEL	C	C	-																															ttgagctcccggaggtggcgCaggcctggaatgaaatcaac																								novel		11LU016_TP	11LU016_NB	C	C																c.7010delG	p.Cys2337SerfsTer9	p.C2337Sfs*9	ENST00000313050	30/30	172	132	40	193	193	0	sindel-varindel-pindel	SEC16A,frameshift_variant,p.Cys2314SerfsTer9,ENST00000290037,NM_001276418.1;SEC16A,frameshift_variant,p.Cys2337SerfsTer9,ENST00000313050,NM_014866.1;SEC16A,frameshift_variant,p.Cys2114SerfsTer9,ENST00000371706,;SEC16A,frameshift_variant,p.Cys2134SerfsTer9,ENST00000431893,;SEC16A,frameshift_variant,p.Cys1039SerfsTer9,ENST00000453963,;SEC16A,frameshift_variant,p.Cys731SerfsTer9,ENST00000277537,;SEC16A,frameshift_variant,p.Cys365SerfsTer9,ENST00000313084,;INPP5E,upstream_gene_variant,,ENST00000371712,NM_001318502.1,NM_019892.4;SEC16A,non_coding_transcript_exon_variant,,ENST00000467838,;INPP5E,upstream_gene_variant,,ENST00000635815,;	-	ENST00000313050	Transcript	frameshift_variant	7084/8806	7010/7074	2337/2357	C/X	tGc/tc		1		-1	SEC16A	HGNC	HGNC:29006	protein_coding	YES	CCDS55351.1	ENSP00000325827		J3KNL6	UPI0000F0888B	NM_014866.1			30/30		hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF13																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	2	136441819	136441819	C	-	1	0	1	0	1	0	0	0	0	14263	724	25	0		0	SEC16A	9	136441819	Frame_Shift_Del	DEL	C	11LU016_TP	956614	136441819	1952898	300	356											
SEC16A	0	.	GRCh38	chr9	136474778	136474778	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggaagagcacttcctgcCttacgatccttttgactttc	7	13	8	13	2	0	2	0	1	0	1	3	4	2	3	4	1	3	1	4	1	2	5	rs763490788		11LU016_TP	11LU016_NB	C	C																c.2838G>T	p.Lys946Asn	p.K946N	ENST00000313050	1/30	178	168	10	171	170	1	strelka-varscan	SEC16A,missense_variant,p.Lys946Asn,ENST00000290037,NM_001276418.1;SEC16A,missense_variant,p.Lys946Asn,ENST00000313050,NM_014866.1;SEC16A,missense_variant,p.Lys768Asn,ENST00000371706,;SEC16A,missense_variant,p.Lys768Asn,ENST00000431893,;	A	ENST00000313050	Transcript	missense_variant	2912/8806	2838/7074	946/2357	K/N	aaG/aaT	rs763490788	1		-1	SEC16A	HGNC	HGNC:29006	protein_coding	YES	CCDS55351.1	ENSP00000325827		J3KNL6	UPI0000F0888B	NM_014866.1	tolerated(1)		1/30		hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	136474778	136474778	C	A	1	0	0	0	0	1	0	0	0	14263	680	24	2		2	SEC16A	9	136474778	Missense_Mutation	SNP	C	11LU016_TP	32959	136474778	1919939	301	357											
ANAPC2	0	.	GRCh38	chr9	137183771	137183771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttgaggtcctcgatggCtggccgggagtctgggaagt	6	10	17	8	2	1	1	0	1	1	0	3	4	2	3	2	5	1	2	2	5	2	2	novel		11LU016_TP	11LU016_NB	C	C																c.1069G>A	p.Ala357Thr	p.A357T	ENST00000323927	5/13	117	97	20	132	132	0	strelka-varscan	ANAPC2,missense_variant,p.Ala357Thr,ENST00000323927,NM_013366.3;SSNA1,upstream_gene_variant,,ENST00000322310,NM_003731.2;SSNA1,upstream_gene_variant,,ENST00000464553,;ANAPC2,upstream_gene_variant,,ENST00000483432,;ANAPC2,non_coding_transcript_exon_variant,,ENST00000495611,;ANAPC2,downstream_gene_variant,,ENST00000618649,;SSNA1,upstream_gene_variant,,ENST00000459860,;ANAPC2,upstream_gene_variant,,ENST00000471131,;SSNA1,upstream_gene_variant,,ENST00000463511,;	T	ENST00000323927	Transcript	missense_variant	1074/2632	1069/2469	357/822	A/T	Gcc/Acc		1		-1	ANAPC2	HGNC	HGNC:19989	protein_coding	YES	CCDS7033.1	ENSP00000314004	Q9UJX6		UPI0000043E1B	NM_013366.3	deleterious(0)		5/13		hmmpanther:PTHR11932:SF73,hmmpanther:PTHR11932																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	137183771	137183771	C	T	1	0	0	0	0	1	0	0	0	701	797	28	3		3	ANAPC2	9	137183771	Missense_Mutation	SNP	C	11LU016_TP	708993	137183771	1210946	302	358											
ADARB2	0	.	GRCh38	chr10	1216995	1216995	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgatcagctgctccccCagcaggacgccgtcccaggt	7	7	12	15	2	1	1	1	1	0	0	3	2	3	2	4	3	3	3	4	3	0	0	rs142381078		11LU016_TP	11LU016_NB	C	C																c.1638G>A	p.=	p.L546L	ENST00000381312	7/10	240	194	46	350	349	1	strelka-varscan-mutect	ADARB2,synonymous_variant,p.=,ENST00000381312,NM_018702.3;ADARB2,non_coding_transcript_exon_variant,,ENST00000469464,;	T	ENST00000381312	Transcript	synonymous_variant	1964/8421	1638/2220	546/739	L	ctG/ctA	rs142381078	1		-1	ADARB2	HGNC	HGNC:227	protein_coding	YES	CCDS7058.1	ENSP00000370713	Q9NS39		UPI0000071776	NM_018702.3			7/10		PROSITE_profiles:PS50141,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF17,Pfam_domain:PF02137,SMART_domains:SM00552																	LOW	1	SNV	1			1										PASS		rs142381078	.												T	2	4	2	1216995	1216995	C	T	1	0	0	0	0	0	0	0	1	327	581	21	3		3	ADARB2	10	1216995	Silent	SNP	C	11LU016_TP		1216995	132580427	303	359											
AKR1C4	0	.	GRCh38	chr10	5204433	5204433	+	Frame_Shift_Del	DEL	G	G	-																															ccagccttggaaagctcactGaaaaaacttcaactggacta																								novel		11LU016_TP	11LU016_NB	G	G																c.309delG	p.Lys105AsnfsTer33	p.K105Nfs*33	ENST00000380448	5/11	145	134	11	159	159	0	sindel-varindel-pindel	AKR1C4,frameshift_variant,p.Lys105AsnfsTer33,ENST00000380448,;AKR1C4,frameshift_variant,p.Lys105AsnfsTer33,ENST00000263126,NM_001818.3;RP11-445P17.6,upstream_gene_variant,,ENST00000441452,;	-	ENST00000380448	Transcript	frameshift_variant	562/1414	309/972	103/323	L/X	ctG/ct		1		1	AKR1C4	HGNC	HGNC:387	protein_coding	YES	CCDS7064.1	ENSP00000369814	P17516		UPI000013D3B2				5/11		hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF134,Gene3D:3.20.20.100,Pfam_domain:PF00248,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430,Prints_domain:PR00069																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	2	5204433	5204433	G	-	1	0	1	0	1	0	0	0	0	556	1277	45	0		0	AKR1C4	10	5204433	Frame_Shift_Del	DEL	G	11LU016_TP	3987438	5204433	128592989	304	360											
SFMBT2	0	.	GRCh38	chr10	7367766	7367766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccccgtaaccgcagtagcGcagaagcagcagctgcccgc	9	4	11	17	4	0	1	0	0	0	1	1	1	1	1	4	0	6	7	4	0	3	2	rs760397823		11LU016_TP	11LU016_NB	G	G																c.319C>A	p.Arg107Ser	p.R107S	ENST00000397167	4/21	338	305	33	386	386	0	strelka-varscan-mutect	SFMBT2,missense_variant,p.Arg107Ser,ENST00000397167,NM_001029880.2;SFMBT2,missense_variant,p.Arg107Ser,ENST00000361972,NM_001018039.1;SFMBT2,missense_variant,p.Arg107Ser,ENST00000379713,;SFMBT2,missense_variant,p.Arg107Ser,ENST00000379711,;	T	ENST00000397167	Transcript	missense_variant	512/8024	319/2685	107/894	R/S	Cgc/Agc	rs760397823,COSM1348973,COSM4015673,COSM4015674	1		-1	SFMBT2	HGNC	HGNC:20256	protein_coding	YES	CCDS31138.1	ENSP00000380353	Q5VUG0		UPI00001C1EDF	NM_001029880.2	deleterious(0)		4/21		PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62,Pfam_domain:PF02820,Gene3D:2.30.30.160,SMART_domains:SM00561,Superfamily_domains:SSF63748											0,1,1,1						MODERATE	1	SNV	5		0,1,1,1	1										PASS		rs760397823	.												T	3	4	2	7367766	7367766	G	T	1	0	0	0	0	1	0	0	0	14436	1087	38	1		1	SFMBT2	10	7367766	Missense_Mutation	SNP	G	11LU016_TP	2163333	7367766	126429656	305	361											
KIN	0	.	GRCh38	chr10	7774878	7774878	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctacatgctcctttactCaaattaaacgtgactagaag	14	11	7	9	1	1	2	1	1	0	1	2	3	2	2	1	0	5	2	1	0	7	5	novel		11LU016_TP	11LU016_NB	C	C																c.621G>T	p.Leu207Phe	p.L207F	ENST00000379562	7/13	134	123	11	143	143	0	strelka-varscan-mutect	KIN,missense_variant,p.Leu207Phe,ENST00000379562,NM_012311.3;KIN,non_coding_transcript_exon_variant,,ENST00000460089,;	A	ENST00000379562	Transcript	missense_variant	669/6348	621/1182	207/393	L/F	ttG/ttT		1		-1	KIN	HGNC	HGNC:6327	protein_coding	YES	CCDS7080.1	ENSP00000368881	O60870		UPI00000315C2	NM_012311.3	tolerated(0.13)		7/13		hmmpanther:PTHR12805																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	7774878	7774878	C	A	1	0	0	0	0	1	0	0	0	8180	825	29	2		2	KIN	10	7774878	Missense_Mutation	SNP	C	11LU016_TP	407112	7774878	126022544	306	362											
PIP4K2A	0	.	GRCh38	chr10	22607927	22607927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttacaaacgcaactcacCtggaaatcttgatcatcaat	15	11	5	10	1	4	1	3	1	1	0	4	2	4	2	1	1	3	2	1	1	5	2	novel		11LU016_TP	11LU016_NB	C	C																c.339G>T	p.Gln113His	p.Q113H	ENST00000376573	3/10	87	73	14	117	116	1	strelka-mutect	PIP4K2A,missense_variant,p.Gln113His,ENST00000376573,NM_005028.4;PIP4K2A,missense_variant,p.Gln54His,ENST00000545335,;PIP4K2A,splice_region_variant,,ENST00000422321,;PIP4K2A,non_coding_transcript_exon_variant,,ENST00000432610,;	A	ENST00000376573	Transcript	missense_variant,splice_region_variant	568/3802	339/1221	113/406	Q/H	caG/caT		1		-1	PIP4K2A	HGNC	HGNC:8997	protein_coding	YES	CCDS7141.1	ENSP00000365757	P48426		UPI0000001052	NM_005028.4	tolerated(0.51)		3/10		Gene3D:2gk9B01,PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF21,SMART_domains:SM00330,Superfamily_domains:SSF56104																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	22607927	22607927	C	A	1	0	0	0	0	1	0	0	0	12031	695	24	2		2	PIP4K2A	10	22607927	Missense_Mutation	SNP	C	11LU016_TP	14833049	22607927	111189495	307	363											
ITGB1	0	.	GRCh38	chr10	32920355	32920355	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgccttctgacaatttgcCgttttccaaaatgacttctg	9	15	6	11	2	2	2	0	2	2	0	3	2	3	2	3	0	2	1	3	0	4	6	rs201962041		11LU016_TP	11LU016_NB	C	C																c.1159G>T	p.Gly387Cys	p.G387C	ENST00000396033	10/16	133	108	25	117	117	0	strelka-varscan-mutect	ITGB1,missense_variant,p.Gly387Cys,ENST00000396033,NM_133376.2;ITGB1,missense_variant,p.Gly387Cys,ENST00000423113,NM_033668.2;ITGB1,missense_variant,p.Gly387Cys,ENST00000302278,NM_002211.3;	A	ENST00000396033	Transcript	missense_variant	1295/3784	1159/2397	387/798	G/C	Ggc/Tgc	rs201962041	1		-1	ITGB1	HGNC	HGNC:6153	protein_coding	YES	CCDS7174.1	ENSP00000379350	P05556		UPI0000070EEB	NM_133376.2	deleterious(0)		10/16		Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF28,SMART_domains:SM00187,Superfamily_domains:SSF69179																	MODERATE	1	SNV	5			1										PASS		rs201962041	.												A	3	1	2	32920355	32920355	C	A	1	0	0	0	0	1	0	0	0	7797	652	23	1		1	ITGB1	10	32920355	Missense_Mutation	SNP	C	11LU016_TP	10312428	32920355	100877067	308	364											
ANXA8	0	.	GRCh38	chr10	47475504	47475504	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgacacctgcaggaggcAcaccaggatcctctccaggt	9	7	11	14	0	1	1	0	1	1	0	3	3	2	3	4	4	1	2	4	4	0	0	novel		11LU016_TP	11LU016_NB	A	A																c.595T>C	p.Cys199Arg	p.C199R	ENST00000611843	6/12	161	152	9	235	235	0	varscan-mutect	ANXA8,missense_variant,p.Cys199Arg,ENST00000611843,NM_001271702.1;ANXA8,missense_variant,p.Cys161Arg,ENST00000585281,NM_001040084.2;ANXA8,missense_variant,p.Cys99Arg,ENST00000583911,NM_001271703.1;ANXA8,intron_variant,,ENST00000583448,;ANXA8,intron_variant,,ENST00000583874,;ANXA8,intron_variant,,ENST00000577813,;ANXA8,downstream_gene_variant,,ENST00000602877,;	G	ENST00000611843	Transcript	missense_variant	820/2174	595/1098	199/365	C/R	Tgc/Cgc		1		-1	ANXA8	HGNC	HGNC:546	protein_coding	YES	CCDS73123.1	ENSP00000478026		A0A087WTN9	UPI000299A05A	NM_001271702.1	deleterious(0.03)		6/12		hmmpanther:PTHR10502,PROSITE_patterns:PS00223,Gene3D:1.10.220.10,Pfam_domain:PF00191,SMART_domains:SM00335,Superfamily_domains:SSF47874																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	2	47475504	47475504	A	G	1	0	0	0	0	1	0	0	0	832	159	6	5		5	ANXA8	10	47475504	Missense_Mutation	SNP	A	11LU016_TP	14555149	47475504	86321918	309	365											
WDFY4	0	.	GRCh38	chr10	48731321	48731321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccccagtgcaggaacaCttcttccagcttctagaggc	8	8	10	15	1	2	1	0	0	2	1	3	2	3	2	4	3	3	2	4	3	2	4	novel		11LU016_TP	11LU016_NB	C	C																c.1341C>T	p.=	p.H447H	ENST00000325239	8/61	231	194	37	281	280	1	strelka-varscan-mutect	WDFY4,synonymous_variant,p.=,ENST00000325239,NM_020945.1;WDFY4,synonymous_variant,p.=,ENST00000360890,;	T	ENST00000325239	Transcript	synonymous_variant	1341/9555	1341/9555	447/3184	H	caC/caT		1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1			8/61		Gene3D:1.25.10.10,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85,Superfamily_domains:SSF48371																	LOW		SNV	5			1										PASS		rs1226797802	.												T	2	4	2	48731321	48731321	C	T	1	0	0	0	0	0	0	0	1	17831	564	20	3		3	WDFY4	10	48731321	Silent	SNP	C	11LU016_TP	1255817	48731321	85066101	310	366											
PCDH15	0	.	GRCh38	chr10	54066854	54066854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcattgtcattgacatctGtcaccactatgtttactgtg	9	15	8	9	0	3	1	2	1	1	0	3	2	3	1	1	0	2	2	1	0	2	5	novel		11LU016_TP	11LU016_NB	G	G																c.2138C>G	p.Thr713Arg	p.T713R	ENST00000373957	19/35	229	199	30	210	210	0	strelka-varscan-mutect	PCDH15,missense_variant,p.Thr713Arg,ENST00000614895,;PCDH15,missense_variant,p.Thr708Arg,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Thr708Arg,ENST00000414778,;PCDH15,missense_variant,p.Thr713Arg,ENST00000617051,;PCDH15,missense_variant,p.Thr713Arg,ENST00000373957,NM_001142763.1;PCDH15,missense_variant,p.Thr708Arg,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,missense_variant,p.Thr708Arg,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Thr686Arg,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Thr671Arg,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Thr708Arg,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Thr637Arg,ENST00000622048,;PCDH15,missense_variant,p.Thr637Arg,ENST00000437009,NM_001142765.1;PCDH15,missense_variant,p.Thr708Arg,ENST00000617271,NM_001142770.1;PCDH15,missense_variant,p.Thr720Arg,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Thr715Arg,ENST00000395445,;PCDH15,missense_variant,p.Thr708Arg,ENST00000616114,;PCDH15,missense_variant,p.Thr708Arg,ENST00000395438,;PCDH15,missense_variant,p.Thr720Arg,ENST00000612394,;PCDH15,missense_variant,p.Thr713Arg,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Thr319Arg,ENST00000409834,;PCDH15,missense_variant,p.Thr708Arg,ENST00000373955,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	C	ENST00000373957	Transcript	missense_variant	2533/7032	2138/5889	713/1962	T/R	aCa/aGa		1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1	tolerated(0.05)		19/35		Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,PROSITE_patterns:PS00232,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	5			1										PASS		rs1181806436	.												C	3	2	2	54066854	54066854	G	C	1	0	0	0	0	1	0	0	0	11598	1377	48	4		4	PCDH15	10	54066854	Missense_Mutation	SNP	G	11LU016_TP	5335533	54066854	79730568	311	367											
PHYHIPL	0	.	GRCh38	chr10	59238649	59238649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgattgcaggacgcatGcttaagttttctgtttttta	9	17	10	5	1	1	1	0	1	1	0	1	3	1	2	0	1	2	5	0	1	3	7	novel		11LU016_TP	11LU016_NB	G	G																c.540G>A	p.Met180Ile	p.M180I	ENST00000373880	4/5	154	145	9	153	153	0	strelka-varscan-mutect	PHYHIPL,missense_variant,p.Met180Ile,ENST00000373880,NM_032439.3;PHYHIPL,missense_variant,p.Met154Ile,ENST00000373878,NM_001143774.1;PHYHIPL,non_coding_transcript_exon_variant,,ENST00000472199,;PHYHIPL,3_prime_UTR_variant,,ENST00000486074,;	A	ENST00000373880	Transcript	missense_variant	804/3578	540/1131	180/376	M/I	atG/atA		1		1	PHYHIPL	HGNC	HGNC:29378	protein_coding	YES	CCDS7254.1	ENSP00000362987	Q96FC7		UPI0000199879	NM_032439.3	deleterious(0.01)		4/5		hmmpanther:PTHR15698,hmmpanther:PTHR15698:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	59238649	59238649	G	A	1	0	0	0	0	1	0	0	0	11955	1319	46	3		3	PHYHIPL	10	59238649	Missense_Mutation	SNP	G	11LU016_TP	5171795	59238649	74558773	312	368											
LIPK	0	.	GRCh38	chr10	88743319	88743319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacatgatgcacttccatCaggtacaaaaataatcctca	17	9	5	10	0	2	2	2	1	0	1	4	2	4	2	2	1	3	2	2	1	5	3	novel		11LU016_TP	11LU016_NB	C	C																c.958C>A	p.Gln320Lys	p.Q320K	ENST00000404190	8/9	168	148	20	192	192	0	strelka-varscan-mutect	LIPK,missense_variant,p.Gln320Lys,ENST00000404190,NM_001080518.1;	A	ENST00000404190	Transcript	missense_variant,splice_region_variant	958/1230	958/1200	320/399	Q/K	Cag/Aag		1		1	LIPK	HGNC	HGNC:23444	protein_coding	YES	CCDS44455.1	ENSP00000383900	Q5VXJ0		UPI00000497BC	NM_001080518.1	deleterious(0.01)		8/9		hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF45,PIRSF_domain:PIRSF000862,Gene3D:3.40.50.1820,Pfam_domain:PF00561,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	88743319	88743319	C	A	1	0	0	0	0	1	0	0	0	8748	840	29	2		2	LIPK	10	88743319	Missense_Mutation	SNP	C	11LU016_TP	29504670	88743319	45054103	313	369											
HTR7	0	.	GRCh38	chr10	90743625	90743625	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgatggtctggagattgtAgcacccacacagataccggt	10	10	12	9	1	1	3	0	1	1	2	1	4	1	3	2	3	2	2	2	3	2	3	rs774014888		11LU016_TP	11LU016_NB	A	A																c.1361T>A	p.Leu454Gln	p.L454Q	ENST00000336152	3/4	221	195	26	274	274	0	strelka-mutect	HTR7,missense_variant,p.Leu454Gln,ENST00000336152,NM_019859.3;HTR7,intron_variant,,ENST00000371719,NM_019860.3;HTR7,intron_variant,,ENST00000277874,NM_000872.4;	T	ENST00000336152	Transcript	missense_variant	1388/3126	1361/1440	454/479	L/Q	cTa/cAa	rs774014888	1		-1	HTR7	HGNC	HGNC:5302	protein_coding	YES	CCDS7408.1	ENSP00000337949	P34969		UPI0000049B68	NM_019859.3	tolerated_low_confidence(0.06)		3/4																			MODERATE	1	SNV	1			1										PASS		rs774014888	.												T	3	4	2	90743625	90743625	A	T	1	0	0	0	0	1	0	0	0	7348	420	15	4		4	HTR7	10	90743625	Missense_Mutation	SNP	A	11LU016_TP	2000306	90743625	43053797	314	370											
HTR7	0	.	GRCh38	chr10	90857445	90857445	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caactttctcgactctgccgTagttgatctgttccccacag	7	13	7	14	2	3	1	0	1	3	0	5	2	4	1	3	0	2	3	3	0	2	4	novel		11LU016_TP	11LU016_NB	T	T																c.227A>G	p.Tyr76Cys	p.Y76C	ENST00000336152	1/4	182	158	24	269	269	0	strelka-varscan-mutect	HTR7,missense_variant,p.Tyr76Cys,ENST00000336152,NM_019859.3;HTR7,missense_variant,p.Tyr76Cys,ENST00000371719,NM_019860.3;HTR7,missense_variant,p.Tyr76Cys,ENST00000277874,NM_000872.4;	C	ENST00000336152	Transcript	missense_variant	254/3126	227/1440	76/479	Y/C	tAc/tGc		1		-1	HTR7	HGNC	HGNC:5302	protein_coding	YES	CCDS7408.1	ENSP00000337949	P34969		UPI0000049B68	NM_019859.3	deleterious(0.01)		1/4		hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF116,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	2	90857445	90857445	T	C	1	0	0	0	0	1	0	0	0	7348	1638	57	5		5	HTR7	10	90857445	Missense_Mutation	SNP	T	11LU016_TP	113820	90857445	42939977	315	371											
TLL2	0	.	GRCh38	chr10	96376763	96376763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggctggggtatttgtcagGccagttggggctcgccaggg	4	9	18	10	2	1	0	1	0	0	0	2	0	1	0	3	7	0	4	3	7	1	3	novel		11LU016_TP	11LU016_NB	G	G																c.2377C>T	p.Pro793Ser	p.P793S	ENST00000357947	18/21	39	35	4	61	61	0	strelka-varscan-mutect	TLL2,missense_variant,p.Pro793Ser,ENST00000357947,NM_012465.3;TLL2,upstream_gene_variant,,ENST00000506028,;	A	ENST00000357947	Transcript	missense_variant	2603/6756	2377/3048	793/1015	P/S	Cct/Tct		1		-1	TLL2	HGNC	HGNC:11844	protein_coding	YES	CCDS7449.1	ENSP00000350630	Q9Y6L7		UPI0000073AEE	NM_012465.3	deleterious(0)		18/21		PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF638,hmmpanther:PTHR10127,Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	96376763	96376763	G	A	1	0	0	0	0	1	0	0	0	16392	1203	42	3		3	TLL2	10	96376763	Missense_Mutation	SNP	G	11LU016_TP	5519318	96376763	37420659	316	372											
PDZD7	0	.	GRCh38	chr10	101010784	101010784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaggggcagaggcacttGgggagaccttgagggccccc	7	4	19	11	1	0	3	0	1	0	2	0	5	0	3	3	7	0	2	3	7	0	2	novel		11LU016_TP	11LU016_NB	G	G																c.2105C>A	p.Pro702Gln	p.P702Q	ENST00000619208	15/17	247	219	28	455	455	0	strelka-varscan-mutect	PDZD7,missense_variant,p.Pro702Gln,ENST00000619208,NM_001195263.1;LZTS2,downstream_gene_variant,,ENST00000370220,;LZTS2,downstream_gene_variant,,ENST00000370223,NM_001318099.1,NM_032429.2;PDZD7,downstream_gene_variant,,ENST00000433616,;PDZD7,3_prime_UTR_variant,,ENST00000474125,;	T	ENST00000619208	Transcript	missense_variant	2355/4135	2105/3102	702/1033	P/Q	cCa/cAa		1		-1	PDZD7	HGNC	HGNC:26257	protein_coding	YES	CCDS73182.1	ENSP00000480489	Q9H5P4		UPI0001D15DE5	NM_001195263.1	tolerated(0.6)		15/17		hmmpanther:PTHR23116,hmmpanther:PTHR23116:SF29																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	2	101010784	101010784	G	T	1	0	0	0	0	1	0	0	0	11792	1348	47	2		2	PDZD7	10	101010784	Missense_Mutation	SNP	G	11LU016_TP	4634021	101010784	32786638	317	373											
NEURL1	0	.	GRCh38	chr10	103571760	103571760	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcagcggggtccgcaCggccgacccgctctgggccc	3	7	14	17	5	3	0	1	0	2	0	4	1	4	0	4	4	1	3	4	4	0	2	rs769464925		11LU016_TP	11LU016_NB	C	C																c.587C>A	p.Thr196Lys	p.T196K	ENST00000369780	3/6	132	123	9	171	171	0	strelka-varscan-mutect	NEURL1,missense_variant,p.Thr196Lys,ENST00000369780,NM_004210.4;NEURL1,missense_variant,p.Thr179Lys,ENST00000437579,;NEURL1,downstream_gene_variant,,ENST00000455386,;NEURL1,non_coding_transcript_exon_variant,,ENST00000465048,;	A	ENST00000369780	Transcript	missense_variant	996/4314	587/1725	196/574	T/K	aCg/aAg	rs769464925,COSM330211	1		1	NEURL1	HGNC	HGNC:7761	protein_coding	YES	CCDS7551.1	ENSP00000358795	O76050		UPI0000073F46	NM_004210.4	deleterious(0.02)		3/6		PROSITE_profiles:PS51065,hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF13											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs769464925	.												A	3	1	2	103571760	103571760	C	A	1	0	0	0	0	1	0	0	0	10380	536	19	1		1	NEURL1	10	103571760	Missense_Mutation	SNP	C	11LU016_TP	2560976	103571760	30225662	318	374											
SORCS1	0	.	GRCh38	chr10	107164249	107164249	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggatgccccagtgcccCgagcccgctccagggatagc	7	5	12	17	2	0	0	0	0	0	0	1	3	1	2	7	2	4	1	7	2	1	1	rs761794885		11LU016_TP	11LU016_NB	C	C																c.278G>T	p.Arg93Leu	p.R93L	ENST00000263054	1/26	166	136	30	170	170	0	strelka-varscan-mutect	SORCS1,missense_variant,p.Arg93Leu,ENST00000263054,NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1;	A	ENST00000263054	Transcript	missense_variant	286/7272	278/3507	93/1168	R/L	cGg/cTg	rs761794885	1		-1	SORCS1	HGNC	HGNC:16697	protein_coding	YES	CCDS7559.1	ENSP00000263054	Q8WY21		UPI00001AE866	NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1	tolerated_low_confidence(0.11)		1/26		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF8																	MODERATE	1	SNV	1			1										PASS		rs761794885	.												A	3	1	2	107164249	107164249	C	A	1	0	0	0	0	1	0	0	0	15252	652	23	1		1	SORCS1	10	107164249	Missense_Mutation	SNP	C	11LU016_TP	3592489	107164249	26633173	319	375											
BBIP1	0	.	GRCh38	chr10	110907711	110907711	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatacccctccgattgtctTcaggcatcttgaaggatatg	9	13	9	10	1	3	1	1	1	2	0	4	3	4	2	3	2	1	2	3	2	4	6	novel		11LU016_TP	11LU016_NB	T	T																c.163A>T	p.Lys55Ter	p.K55*	ENST00000454061	3/5	79	73	6	98	98	0	strelka-varscan-mutect	BBIP1,stop_gained,p.Lys55Ter,ENST00000454061,NM_001195304.1;BBIP1,intron_variant,,ENST00000448814,NM_001195305.1;BBIP1,intron_variant,,ENST00000447005,NM_001243783.1;BBIP1,intron_variant,,ENST00000605742,NM_001195306.1;BBIP1,intron_variant,,ENST00000423273,NM_001195307.1;BBIP1,intron_variant,,ENST00000436562,;RP11-348N5.9,non_coding_transcript_exon_variant,,ENST00000619110,;RP11-348N5.7,upstream_gene_variant,,ENST00000603915,;BBIP1,upstream_gene_variant,,ENST00000605265,;BBIP1,non_coding_transcript_exon_variant,,ENST00000422050,;BBIP1,intron_variant,,ENST00000398289,;	A	ENST00000454061	Transcript	stop_gained	300/812	163/312	55/103	K/*	Aag/Tag		1		-1	BBIP1	HGNC	HGNC:28093	protein_coding	YES	CCDS55728.1	ENSP00000433157	A8MTZ0		UPI0000251FC1	NM_001195304.1			3/5																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	2	110907711	110907711	T	A	1	0	0	0	0	0	1	0	0	1479	1792	62	4		4	BBIP1	10	110907711	Nonsense_Mutation	SNP	T	11LU016_TP	3743462	110907711	22889711	320	376											
SHOC2	0	.	GRCh38	chr10	111004691	111004691	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgggtggtccatctcAgttttctaccatctattccc	6	15	7	13	0	3	0	1	0	3	0	7	0	6	0	4	2	1	1	4	2	2	5	novel		11LU016_TP	11LU016_NB	A	A																c.1058A>T	p.Gln353Leu	p.Q353L	ENST00000369452	5/9	269	233	36	272	272	0	strelka-varscan-mutect	SHOC2,missense_variant,p.Gln353Leu,ENST00000369452,NM_001324336.1,NM_001324337.1,NM_007373.3;SHOC2,missense_variant,p.Gln307Leu,ENST00000265277,NM_001269039.1;SHOC2,missense_variant,p.Gln143Leu,ENST00000451838,;SHOC2,non_coding_transcript_exon_variant,,ENST00000489390,;	T	ENST00000369452	Transcript	missense_variant	1403/3943	1058/1749	353/582	Q/L	cAg/cTg		1		1	SHOC2	HGNC	HGNC:15454	protein_coding	YES	CCDS7568.1	ENSP00000358464	Q9UQ13		UPI0000135954	NM_001324336.1,NM_001324337.1,NM_007373.3	deleterious(0)		5/9		SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	111004691	111004691	A	T	1	0	0	0	0	1	0	0	0	14550	188	7	4		4	SHOC2	10	111004691	Missense_Mutation	SNP	A	11LU016_TP	96980	111004691	22792731	321	377											
NRAP	0	.	GRCh38	chr10	113597127	113597127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttggcatgaaccaggtCtggggagtcaaccactgtgg	8	10	14	9	0	3	1	1	1	2	0	3	2	3	2	2	5	2	2	2	5	2	2	novel		11LU016_TP	11LU016_NB	C	C																c.4390G>T	p.Asp1464Tyr	p.D1464Y	ENST00000369358	37/42	170	153	17	257	257	0	strelka-varscan-mutect	NRAP,missense_variant,p.Asp1464Tyr,ENST00000359988,NM_198060.3;NRAP,missense_variant,p.Asp1437Tyr,ENST00000369360,;NRAP,missense_variant,p.Asp1464Tyr,ENST00000369358,NM_001261463.1;NRAP,missense_variant,p.Asp1429Tyr,ENST00000360478,NM_006175.4;	A	ENST00000369358	Transcript	missense_variant	4578/5534	4390/5196	1464/1731	D/Y	Gac/Tac		1		-1	NRAP	HGNC	HGNC:7988	protein_coding	YES	CCDS73199.1	ENSP00000358365		A0A0A0MRM2	UPI000264ECBD	NM_001261463.1	deleterious(0)		37/42		PROSITE_profiles:PS51216,hmmpanther:PTHR11039,SMART_domains:SM00227																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	113597127	113597127	C	A	1	0	0	0	0	1	0	0	0	10694	913	32	2		2	NRAP	10	113597127	Missense_Mutation	SNP	C	11LU016_TP	2592436	113597127	20200295	322	378											
TDRD1	0	.	GRCh38	chr10	114226048	114226048	+	Splice_Site	SNP	G	G	T																															gagatttcattctgttttcaGgtgatgatttttggtatcgt																								novel		11LU016_TP	11LU016_NB	G	G																c.3008-1G>T		p.X1003_splice	ENST00000251864		189	171	18	331	331	0	strelka-varscan-mutect	TDRD1,splice_acceptor_variant,,ENST00000251864,NM_198795.1;TDRD1,splice_acceptor_variant,,ENST00000369280,;TDRD1,splice_acceptor_variant,,ENST00000369282,;	T	ENST00000251864	Transcript	splice_acceptor_variant	-/4510	3008/3570	1003/1189				1		1	TDRD1	HGNC	HGNC:11712	protein_coding	YES	CCDS7588.1	ENSP00000251864	Q9BXT4	A0A140VJW6	UPI00001F9753	NM_198795.1				21/25																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	2	114226048	114226048	G	T	1	0	0	0	0	0	0	1	0	16138	1014	35	2		2	TDRD1	10	114226048	Splice_Site	SNP	G	11LU016_TP	628921	114226048	19571374	323	379	11	2									
TDRD1	0	.	GRCh38	chr10	114226049	114226049	+	Missense_Mutation	SNP	G	G	T																															agatttcattctgttttcagGtgatgatttttggtatcgtg																								novel		11LU016_TP	11LU016_NB	G	G																c.3008G>T	p.Ser1003Ile	p.S1003I	ENST00000251864	22/26	189	172	17	335	335	0	strelka-varscan-mutect	TDRD1,missense_variant,p.Ser1003Ile,ENST00000251864,NM_198795.1;TDRD1,missense_variant,p.Ser1003Ile,ENST00000369280,;TDRD1,missense_variant,p.Ser1003Ile,ENST00000369282,;	T	ENST00000251864	Transcript	missense_variant,splice_region_variant	3161/4510	3008/3570	1003/1189	S/I	aGt/aTt		1		1	TDRD1	HGNC	HGNC:11712	protein_coding	YES	CCDS7588.1	ENSP00000251864	Q9BXT4	A0A140VJW6	UPI00001F9753	NM_198795.1	deleterious(0)		22/26		PROSITE_profiles:PS50304,hmmpanther:PTHR22948:SF4,hmmpanther:PTHR22948,Pfam_domain:PF00567,Gene3D:2.30.30.140,SMART_domains:SM00333,Superfamily_domains:SSF63748																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	114226049	114226049	G	T	1	0	0	0	0	1	0	0	0	16138	1275	44	2		2	TDRD1	10	114226049	Missense_Mutation	SNP	G	11LU016_TP	1	114226049	19571373	324	380	11	2									
DOCK1	0	.	GRCh38	chr10	127403074	127403074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgtgggaggaggccattgCcttgggcaaggagctagccg	8	7	18	8	1	0	0	0	0	0	0	0	4	0	3	3	5	3	2	3	5	2	3	novel		11LU016_TP	11LU016_NB	C	C																c.3947C>T	p.Ala1316Val	p.A1316V	ENST00000623213	39/52	177	163	14	229	229	0	strelka-varscan-mutect	DOCK1,missense_variant,p.Ala1295Val,ENST00000280333,NM_001380.4;DOCK1,missense_variant,p.Ala1316Val,ENST00000623213,NM_001290223.1;	T	ENST00000623213	Transcript	missense_variant	4009/5761	3947/5661	1316/1886	A/V	gCc/gTc		1		1	DOCK1	HGNC	HGNC:2987	protein_coding	YES	CCDS76359.1	ENSP00000485033		A0A096LNH6	UPI0003EAEE97	NM_001290223.1	tolerated(0.28)		39/52		PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF79,hmmpanther:PTHR23317,Pfam_domain:PF06920																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	127403074	127403074	C	T	1	0	0	0	0	1	0	0	0	4499	739	26	3		3	DOCK1	10	127403074	Missense_Mutation	SNP	C	11LU016_TP	13177025	127403074	6394348	325	381											
PWWP2B	0	.	GRCh38	chr10	132406008	132406008	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taagatccatggttttccttGgtggccggcgcgtgttcttg	4	15	13	9	3	1	1	0	0	1	1	3	1	3	1	3	4	0	2	3	4	1	6	novel		11LU016_TP	11LU016_NB	G	G																c.1508G>T	p.Trp503Leu	p.W503L	ENST00000305233	2/3	161	146	15	179	179	0	strelka-varscan-mutect	PWWP2B,missense_variant,p.Trp503Leu,ENST00000305233,NM_138499.3;PWWP2B,intron_variant,,ENST00000631148,NM_001098637.1;	T	ENST00000305233	Transcript	missense_variant	1567/2651	1508/1773	503/590	W/L	tGg/tTg		1		1	PWWP2B	HGNC	HGNC:25150	protein_coding	YES	CCDS7667.2	ENSP00000306324	Q6NUJ5		UPI00001D7FE3	NM_138499.3	deleterious(0)		2/3		PROSITE_profiles:PS50812,hmmpanther:PTHR23068:SF6,hmmpanther:PTHR23068,Gene3D:2.30.30.160,Pfam_domain:PF00855,SMART_domains:SM00293,Superfamily_domains:SSF63748																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	132406008	132406008	G	T	1	0	0	0	0	1	0	0	0	12999	1357	47	2		2	PWWP2B	10	132406008	Missense_Mutation	SNP	G	11LU016_TP	5002934	132406008	1391414	326	382											
KNDC1	0	.	GRCh38	chr10	133198496	133198496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgcagaacgcaagtgtggCcaggtgagcatcgtccccac	9	5	13	14	4	0	2	0	1	0	1	2	2	1	2	3	2	2	3	3	2	2	0	novel		11LU016_TP	11LU016_NB	C	C																c.2066C>T	p.Ala689Val	p.A689V	ENST00000304613	13/30	77	66	11	74	74	0	strelka-varscan-mutect	KNDC1,missense_variant,p.Ala689Val,ENST00000304613,NM_152643.6;KNDC1,missense_variant,p.Ala624Val,ENST00000368571,;	T	ENST00000304613	Transcript	missense_variant	2087/6793	2066/5250	689/1749	A/V	gCc/gTc		1		1	KNDC1	HGNC	HGNC:29374	protein_coding	YES	CCDS7674.1	ENSP00000304437	Q76NI1		UPI00003529F7	NM_152643.6	tolerated(0.07)		13/30		hmmpanther:PTHR21560,hmmpanther:PTHR21560:SF0																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	2	133198496	133198496	C	T	1	0	0	0	0	1	0	0	0	8304	753	26	3		3	KNDC1	10	133198496	Missense_Mutation	SNP	C	11LU016_TP	792488	133198496	598926	327	383											
MUC6	0	.	GRCh38	chr11	1017100	1017100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggggattggctggtccCactggtggtcggtgtcattg	3	13	17	8	1	1	0	1	0	0	0	3	1	2	1	1	7	0	2	1	7	0	3	novel		11LU016_TP	11LU016_NB	C	C																c.5701G>A	p.Gly1901Arg	p.G1901R	ENST00000421673	31/33	816	753	63	928	927	1	varscan-mutect	MUC6,missense_variant,p.Gly1901Arg,ENST00000421673,NM_005961.2;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.3;MUC6,upstream_gene_variant,,ENST00000532016,;MUC6,downstream_gene_variant,,ENST00000527242,;	T	ENST00000421673	Transcript	missense_variant	5752/8006	5701/7320	1901/2439	G/R	Ggg/Agg		1		-1	MUC6	HGNC	HGNC:7517	protein_coding	YES	CCDS44513.1	ENSP00000406861	Q6W4X9		UPI0000251DBE	NM_005961.2	deleterious_low_confidence(0.01)		31/33		Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		rs1479273032	.												T	3	4	2	1017100	1017100	C	T	1	0	0	0	0	1	0	0	0	9980	594	21	3		3	MUC6	11	1017100	Missense_Mutation	SNP	C	11LU016_TP		1017100	134069522	328	384											
MUC5AC	0	.	GRCh38	chr11	1188923	1188923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagtgcagccgcgaagaggGcctggtgtgccggaaccagg	8	4	18	11	3	0	1	0	0	0	1	0	3	0	2	4	4	4	2	4	4	2	0	novel		11LU016_TP	11LU016_NB	G	G																c.10778G>T	p.Gly3593Val	p.G3593V	ENST00000621226	31/49	36	28	8	32	32	0	strelka-varscan-mutect	MUC5AC,missense_variant,p.Gly3593Val,ENST00000621226,NM_001304359.1;	T	ENST00000621226	Transcript	missense_variant	10825/17448	10778/16965	3593/5654	G/V	gGc/gTc		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	deleterious(0)		31/49		Pfam_domain:PF13330																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	2	1188923	1188923	G	T	1	0	0	0	0	1	0	0	0	9978	1203	42	2		2	MUC5AC	11	1188923	Missense_Mutation	SNP	G	11LU016_TP	171823	1188923	133897699	329	385											
OSBPL5	0	.	GRCh38	chr11	3122067	3122067	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagctgccgtgtggcgcgcTtcttctcctgccggtagttc	2	12	13	14	4	2	0	0	0	2	0	4	0	2	0	3	2	3	5	3	2	1	4	novel		11LU016_TP	11LU016_NB	T	T																c.332A>T	p.Lys111Met	p.K111M	ENST00000263650	5/22	260	245	15	319	319	0	strelka-varscan-mutect	OSBPL5,missense_variant,p.Lys111Met,ENST00000263650,NM_020896.3;OSBPL5,missense_variant,p.Lys111Met,ENST00000389989,NM_145638.2,NM_001144063.1;OSBPL5,missense_variant,p.Lys111Met,ENST00000348039,;OSBPL5,missense_variant,p.Lys63Met,ENST00000525498,;OSBPL5,missense_variant,p.Lys111Met,ENST00000526122,;OSBPL5,missense_variant,p.Lys111Met,ENST00000533234,;OSBPL5,downstream_gene_variant,,ENST00000533721,;OSBPL5,downstream_gene_variant,,ENST00000534157,;OSBPL5,downstream_gene_variant,,ENST00000530372,;OSBPL5,missense_variant,p.Asn111Ile,ENST00000471998,;OSBPL5,non_coding_transcript_exon_variant,,ENST00000534491,;OSBPL5,non_coding_transcript_exon_variant,,ENST00000477622,;OSBPL5,non_coding_transcript_exon_variant,,ENST00000465323,;OSBPL5,non_coding_transcript_exon_variant,,ENST00000459995,;OSBPL5,upstream_gene_variant,,ENST00000532951,;	A	ENST00000263650	Transcript	missense_variant	492/3889	332/2640	111/879	K/M	aAg/aTg		1		-1	OSBPL5	HGNC	HGNC:16392	protein_coding	YES	CCDS31344.1	ENSP00000263650	Q9H0X9		UPI000000D722	NM_020896.3	deleterious(0)		5/22		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10972:SF94,hmmpanther:PTHR10972																	MODERATE	1	SNV	1			1										PASS		rs1323154221	.												A	3	1	2	3122067	3122067	T	A	1	0	0	0	0	1	0	0	0	11346	1609	56	4		4	OSBPL5	11	3122067	Missense_Mutation	SNP	T	11LU016_TP	1933144	3122067	131964555	330	386											
OR51E1	0	.	GRCh38	chr11	4652532	4652532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttcagcttcttcatgatGgtggatcccaatggcaatga	10	12	10	9	0	3	2	2	2	1	0	4	3	4	3	1	3	1	3	1	3	2	3	novel		11LU016_TP	11LU016_NB	G	G																c.6G>T	p.Met2Ile	p.M2I	ENST00000396952	2/2	48	28	20	77	77	0	strelka-varscan-mutect	OR51E1,missense_variant,p.Met2Ile,ENST00000396952,NM_152430.3;OR51E1,missense_variant,p.Met2Ile,ENST00000530215,;	T	ENST00000396952	Transcript	missense_variant	656/3612	6/957	2/318	M/I	atG/atT		1		1	OR51E1	HGNC	HGNC:15194	protein_coding	YES	CCDS31358.2	ENSP00000380155	Q8TCB6	A0A126GVF8	UPI000003ACE2	NM_152430.3	deleterious(0.03)		2/2																			MODERATE	1	SNV				1										PASS		.	.												T	3	4	2	4652532	4652532	G	T	1	0	0	0	0	1	0	0	0	11168	1348	47	2		2	OR51E1	11	4652532	Missense_Mutation	SNP	G	11LU016_TP	1530465	4652532	130434090	331	387											
OR52J3	0	.	GRCh38	chr11	5047134	5047134	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtatctatgggcttttTgtagtttctttctttgttct	5	23	8	5	0	4	0	0	0	4	0	4	0	4	0	0	2	0	5	0	2	4	9	novel		11LU016_TP	11LU016_NB	T	T																c.609T>G	p.Phe203Leu	p.F203L	ENST00000380370	1/1	201	158	43	230	230	0	strelka-varscan-mutect	OR52J3,missense_variant,p.Phe203Leu,ENST00000380370,NM_001001916.2;	G	ENST00000380370	Transcript	missense_variant	609/936	609/936	203/311	F/L	ttT/ttG		1		1	OR52J3	HGNC	HGNC:14799	protein_coding	YES	CCDS31370.1	ENSP00000369728	Q8NH60		UPI0000046AE0	NM_001001916.2	tolerated(0.52)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF9,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	2	5047134	5047134	T	G	1	0	0	0	0	1	0	0	0	11195	1809	63	5		5	OR52J3	11	5047134	Missense_Mutation	SNP	T	11LU016_TP	394602	5047134	130039488	332	388											
HBD	0	.	GRCh38	chr11	5234192	5234192	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gactcaaagaacctctgggtCcaagggtagaccaccagtaa	14	6	10	11	0	2	2	1	0	1	2	3	3	3	2	4	2	1	2	4	2	5	2			11LU016_TP	11LU016_NB	C	C																c.114G>C	p.Trp38Cys	p.W38C	ENST00000380299	2/3	394	287	107	367	367	0	strelka-varscan-mutect	HBD,missense_variant,p.Trp38Cys,ENST00000380299,NM_000519.3;HBD,missense_variant,p.Trp38Cys,ENST00000429817,;HBD,missense_variant,p.Trp38Cys,ENST00000292901,;HBD,intron_variant,,ENST00000417377,;HBB,upstream_gene_variant,,ENST00000380315,;	G	ENST00000380299	Transcript	missense_variant	329/785	114/444	38/147	W/C	tgG/tgC	COSM1508721	1		-1	HBD	HGNC	HGNC:4829	protein_coding	YES	CCDS31376.1	ENSP00000369654	P02042	A0N071	UPI0000161DC2	NM_000519.3	deleterious(0)		2/3		PROSITE_profiles:PS01033,hmmpanther:PTHR11442:SF50,hmmpanther:PTHR11442,Pfam_domain:PF00042,Gene3D:1.10.490.10,Superfamily_domains:SSF46458,Prints_domain:PR00814											1						MODERATE	1	SNV	1		1	1										PASS		rs1456294062	.												G	3	3	2	5234192	5234192	C	G	1	0	0	0	0	1	0	0	0	6865	856	30	4		4	HBD	11	5234192	Missense_Mutation	SNP	C	11LU016_TP	187058	5234192	129852430	333	389											
LMO1	0	.	GRCh38	chr11	8230505	8230505	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggagagcatcggcacgcCtgcagacggacagacagaca	13	2	14	12	4	0	4	0	0	0	4	1	7	0	5	1	3	2	3	1	3	0	0	novel		11LU016_TP	11LU016_NB	C	C																c.26-1G>T		p.X9_splice	ENST00000335790		154	138	16	180	180	0	strelka-varscan-mutect	LMO1,splice_acceptor_variant,,ENST00000335790,NM_002315.2;LMO1,splice_acceptor_variant,,ENST00000428101,NM_001270428.1;LMO1,splice_acceptor_variant,,ENST00000534484,;LMO1,splice_acceptor_variant,,ENST00000524379,;	A	ENST00000335790	Transcript	splice_acceptor_variant	-/1279	26/471	9/156				1		-1	LMO1	HGNC	HGNC:6641	protein_coding	YES	CCDS44534.1	ENSP00000338207	P25800		UPI0000133883	NM_002315.2				1/3																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	2	8230505	8230505	C	A	1	0	0	0	0	0	0	1	0	8777	695	24	2		2	LMO1	11	8230505	Splice_Site	SNP	C	11LU016_TP	2996313	8230505	126856117	334	390											
ABCC8	0	.	GRCh38	chr11	17460517	17460517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacgtcgttctccttccCaaggtggtccacgatcccaa	9	9	9	14	3	1	1	0	0	1	1	6	3	4	1	4	2	0	1	4	2	3	2	novel		11LU016_TP	11LU016_NB	C	C																c.982G>T	p.Gly328Trp	p.G328W	ENST00000302539	6/39	397	352	45	481	481	0	strelka-varscan-mutect	ABCC8,missense_variant,p.Gly328Trp,ENST00000302539,NM_001287174.1;ABCC8,missense_variant,p.Gly328Trp,ENST00000389817,NM_000352.4;ABCC8,missense_variant,p.Gly328Trp,ENST00000527905,;ABCC8,non_coding_transcript_exon_variant,,ENST00000532728,;ABCC8,non_coding_transcript_exon_variant,,ENST00000635881,;	A	ENST00000302539	Transcript	missense_variant	1051/4923	982/4749	328/1582	G/W	Ggg/Tgg		1		-1	ABCC8	HGNC	HGNC:59	protein_coding	YES	CCDS73264.1	ENSP00000303960	Q09428		UPI00015DFF64	NM_001287174.1	deleterious(0.02)		6/39		Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF187,Superfamily_domains:SSF90123																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	2	17460517	17460517	C	A	1	0	0	0	0	1	0	0	0	62	594	21	2		2	ABCC8	11	17460517	Missense_Mutation	SNP	C	11LU016_TP	9230012	17460517	117626105	335	391											
MYOD1	0	.	GRCh38	chr11	17719984	17719984	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcactcgcacttccccgcgGcggtgcacccggccccgggc	4	4	13	20	6	0	0	0	0	0	0	2	0	1	0	5	4	2	3	5	4	0	1	novel		11LU016_TP	11LU016_NB	G	G																c.202G>T	p.Ala68Ser	p.A68S	ENST00000250003	1/3	152	142	10	151	151	0	strelka-varscan-mutect	MYOD1,missense_variant,p.Ala68Ser,ENST00000250003,NM_002478.4;	T	ENST00000250003	Transcript	missense_variant	417/1801	202/963	68/320	A/S	Gcg/Tcg		1		1	MYOD1	HGNC	HGNC:7611	protein_coding	YES	CCDS7826.1	ENSP00000250003	P15172		UPI000007280C	NM_002478.4	tolerated(0.44)		1/3		Pfam_domain:PF01586,hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF2,SMART_domains:SM00520																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	17719984	17719984	G	T	1	0	0	0	0	1	0	0	0	10089	1203	42	2		2	MYOD1	11	17719984	Missense_Mutation	SNP	G	11LU016_TP	259467	17719984	117366638	336	392											
SLC6A5	0	.	GRCh38	chr11	20601224	20601224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatggcccatgcgctcccagGacgagcccggagcaggagct	8	4	15	14	3	0	0	0	0	0	0	1	5	1	3	3	4	4	3	3	4	0	0	rs547285018		11LU016_TP	11LU016_NB	G	G																c.99G>T	p.Arg33Ser	p.R33S	ENST00000525748	2/16	132	92	40	169	169	0	strelka-varscan-mutect	SLC6A5,missense_variant,p.Arg33Ser,ENST00000525748,NM_004211.3;SLC6A5,missense_variant,p.Arg33Ser,ENST00000298923,;	T	ENST00000525748	Transcript	missense_variant	372/7084	99/2394	33/797	R/S	agG/agT	rs547285018	1		1	SLC6A5	HGNC	HGNC:11051	protein_coding	YES	CCDS7854.1	ENSP00000434364	Q9Y345		UPI00004564A5	NM_004211.3	tolerated_low_confidence(0.13)		2/16																			MODERATE	1	SNV	1			1										PASS		rs547285018	.												T	3	4	2	20601224	20601224	G	T	1	0	0	0	0	1	0	0	0	14970	1165	41	2		2	SLC6A5	11	20601224	Missense_Mutation	SNP	G	11LU016_TP	2881240	20601224	114485398	337	393											
SLC5A12	0	.	GRCh38	chr11	26671215	26671215	+	Frame_Shift_Del	DEL	C	C	-																															gttctgtaagacagattcagCcccctgtttccgggcactgc																										11LU016_TP	11LU016_NB	C	C																c.1744delG	p.Ala582LeufsTer43	p.A582Lfs*43	ENST00000396005	15/15	72	64	8	78	78	0	sindel-pindel	SLC5A12,frameshift_variant,p.Ala582LeufsTer43,ENST00000396005,NM_178498.3;SLC5A12,3_prime_UTR_variant,,ENST00000527405,;	-	ENST00000396005	Transcript	frameshift_variant	2054/6250	1744/1857	582/618	A/X	Gct/ct	COSM5672025	1		-1	SLC5A12	HGNC	HGNC:28750	protein_coding	YES	CCDS7860.2	ENSP00000379326	Q1EHB4		UPI000003ED2C	NM_178498.3			15/15		hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF152											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	2	26671215	26671215	C	-	1	0	1	0	1	0	0	0	0	14947	739	26	0		0	SLC5A12	11	26671215	Frame_Shift_Del	DEL	C	11LU016_TP	6069991	26671215	108415407	338	394											
TCP11L1	0	.	GRCh38	chr11	33061658	33061658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgcccaggctgagccctGttgctgtccagaattacgct	8	10	10	13	1	0	2	0	1	0	1	1	2	1	2	3	1	4	4	3	1	2	2	novel		11LU016_TP	11LU016_NB	G	G																c.904G>T	p.Val302Phe	p.V302F	ENST00000334274	7/10	152	143	9	98	98	0	strelka-varscan-mutect	TCP11L1,missense_variant,p.Val302Phe,ENST00000334274,NM_018393.3;TCP11L1,missense_variant,p.Val302Phe,ENST00000432887,NM_001145541.1;TCP11L1,missense_variant,p.Val302Phe,ENST00000531632,;TCP11L1,downstream_gene_variant,,ENST00000530419,;TCP11L1,downstream_gene_variant,,ENST00000602733,;TCP11L1,downstream_gene_variant,,ENST00000530171,;TCP11L1,missense_variant,p.Val302Phe,ENST00000527661,;TCP11L1,3_prime_UTR_variant,,ENST00000528107,;	T	ENST00000334274	Transcript	missense_variant	1304/2817	904/1530	302/509	V/F	Gtt/Ttt		1		1	TCP11L1	HGNC	HGNC:25655	protein_coding	YES	CCDS7882.1	ENSP00000335595	Q9NUJ3		UPI0000071A1F	NM_018393.3	tolerated(0.13)		7/10		Pfam_domain:PF05794,hmmpanther:PTHR12832,hmmpanther:PTHR12832:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	33061658	33061658	G	T	1	0	0	0	0	1	0	0	0	16121	1377	48	2		2	TCP11L1	11	33061658	Missense_Mutation	SNP	G	11LU016_TP	6390443	33061658	102024964	339	395											
LMO2	0	.	GRCh38	chr11	33864657	33864657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgtagtagaggcgccgccCcacctcacccagccggcagc	7	6	11	17	3	1	1	1	0	0	1	1	1	1	1	6	2	2	3	6	2	2	3	novel		11LU016_TP	11LU016_NB	C	C																c.409G>T	p.Gly137Trp	p.G137W	ENST00000257818	5/6	258	233	25	200	200	0	strelka-varscan-mutect	LMO2,missense_variant,p.Gly137Trp,ENST00000257818,NM_005574.3;LMO2,missense_variant,p.Gly68Trp,ENST00000395833,NM_001142315.1,NM_001142316.1;LMO2,downstream_gene_variant,,ENST00000493667,;LMO2,3_prime_UTR_variant,,ENST00000411482,;LMO2,non_coding_transcript_exon_variant,,ENST00000464025,;LMO2,downstream_gene_variant,,ENST00000465614,;	A	ENST00000257818	Transcript	missense_variant	1239/2294	409/684	137/227	G/W	Ggg/Tgg		1		-1	LMO2	HGNC	HGNC:6642	protein_coding	YES	CCDS7888.2	ENSP00000257818	P25791		UPI00001F9F84	NM_005574.3	deleterious(0)		5/6		PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF109,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	33864657	33864657	C	A	1	0	0	0	0	1	0	0	0	8778	623	22	2		2	LMO2	11	33864657	Missense_Mutation	SNP	C	11LU016_TP	802999	33864657	101221965	340	396											
LRRC4C	0	.	GRCh38	chr11	40116052	40116052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggttctcatggaggttcaGcagccgtgtgttggtggaga	6	13	16	6	1	2	1	2	0	1	1	3	3	2	2	1	5	2	4	1	5	0	4	novel		11LU016_TP	11LU016_NB	G	G																c.241C>A	p.Leu81Met	p.L81M	ENST00000278198	2/2	200	168	32	161	161	0	strelka-varscan-mutect	LRRC4C,missense_variant,p.Leu81Met,ENST00000278198,;LRRC4C,missense_variant,p.Leu81Met,ENST00000527150,;LRRC4C,missense_variant,p.Leu81Met,ENST00000530763,NM_020929.2;LRRC4C,missense_variant,p.Leu81Met,ENST00000528697,NM_001258419.1;LRRC4C,missense_variant,p.Leu81Met,ENST00000619527,;LRRC4C,downstream_gene_variant,,ENST00000533474,;RP11-454H19.2,upstream_gene_variant,,ENST00000624239,;	T	ENST00000278198	Transcript	missense_variant	2205/4054	241/1923	81/640	L/M	Ctg/Atg		1		-1	LRRC4C	HGNC	HGNC:29317	protein_coding	YES	CCDS31464.1	ENSP00000278198	Q9HCJ2		UPI000000D9A7		deleterious(0)		2/2		PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF8,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	40116052	40116052	G	T	1	0	0	0	0	1	0	0	0	8903	962	34	2		2	LRRC4C	11	40116052	Missense_Mutation	SNP	G	11LU016_TP	6251395	40116052	94970570	341	397											
OR4C5	0	.	GRCh38	chr11	48366207	48366207	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagccatctatgaaggaaaAgaaagacagaaaaaaataca	23	4	8	6	0	1	4	0	1	1	3	1	5	1	5	1	1	2	1	1	1	9	2	novel		11LU016_TP	11LU016_NB	A	A																c.259T>A	p.Phe87Ile	p.F87I	ENST00000319813	1/1	231	205	26	306	305	1	strelka-varscan-mutect	OR4C5,missense_variant,p.Phe87Ile,ENST00000319813,;	T	ENST00000319813	Transcript	missense_variant	259/981	259/981	87/326	F/I	Ttt/Att		1		-1	OR4C5	HGNC	HGNC:14702	protein_coding	YES		ENSP00000321338	Q8NGB2		UPI0000061EE9		deleterious_low_confidence(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF9,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	2	48366207	48366207	A	T	1	0	0	0	0	1	0	0	0	11128	72	3	4		4	OR4C5	11	48366207	Missense_Mutation	SNP	A	11LU016_TP	8250155	48366207	86720415	342	398											
OR4C12	0	.	GRCh38	chr11	49982168	49982168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggccatcactgtcagcaGgatgatctcagtagcaccaa	13	7	9	12	0	3	1	3	1	1	0	4	2	3	2	2	2	2	3	2	2	2	1	novel		11LU016_TP	11LU016_NB	G	G																c.334C>A	p.Leu112Met	p.L112M	ENST00000335238	1/1	177	145	32	131	130	1	strelka-varscan-mutect	OR4C12,missense_variant,p.Leu112Met,ENST00000335238,NM_001005270.4;	T	ENST00000335238	Transcript	missense_variant	368/1063	334/930	112/309	L/M	Ctg/Atg		1		-1	OR4C12	HGNC	HGNC:15168	protein_coding	YES	CCDS31496.1	ENSP00000334418	Q96R67		UPI0000041E30	NM_001005270.4	deleterious_low_confidence(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF353,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1442841275	.												T	3	4	2	49982168	49982168	G	T	1	0	0	0	0	1	0	0	0	11123	991	35	2		2	OR4C12	11	49982168	Missense_Mutation	SNP	G	11LU016_TP	1615961	49982168	85104454	343	399											
OR4C11	0	.	GRCh38	chr11	55603623	55603623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtatatatgaatatacatgGgccaaagaataagatgacta	18	11	8	4	0	0	4	0	2	0	2	0	4	0	4	1	1	1	1	1	1	10	7			11LU016_TP	11LU016_NB	G	G																c.751C>G	p.Pro251Ala	p.P251A	ENST00000302231	1/1	166	143	23	147	147	0	strelka-varscan-mutect	OR4C11,missense_variant,p.Pro251Ala,ENST00000302231,NM_001004700.2;	C	ENST00000302231	Transcript	missense_variant	776/1045	751/933	251/310	P/A	Cca/Gca	COSM3967582	1		-1	OR4C11	HGNC	HGNC:15167	protein_coding	YES	CCDS31503.1	ENSP00000306651	Q6IEV9	A0A126GVN6	UPI000013E7AD	NM_001004700.2	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF447,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												C	3	2	2	55603623	55603623	G	C	1	0	0	0	0	1	0	0	0	11122	1232	43	4		4	OR4C11	11	55603623	Missense_Mutation	SNP	G	11LU016_TP	5621455	55603623	79482999	344	400											
OR5F1	0	.	GRCh38	chr11	55994331	55994331	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataaagaagtacatctgtaGgaagcagccagcaaaagaga	19	5	11	6	0	1	2	0	0	1	2	1	5	1	3	1	1	4	4	1	1	8	3	novel		11LU016_TP	11LU016_NB	G	G																c.295C>T	p.=	p.L99L	ENST00000278409	1/1	179	156	23	182	182	0	strelka-varscan-mutect	OR5F1,synonymous_variant,p.=,ENST00000278409,NM_003697.1;	A	ENST00000278409	Transcript	synonymous_variant	295/945	295/945	99/314	L	Cta/Tta		1		-1	OR5F1	HGNC	HGNC:8343	protein_coding	YES	CCDS31515.1	ENSP00000278409	O95221		UPI0000041D19	NM_003697.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF168,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	LOW	1	SNV				1										PASS		.	.												A	2	1	2	55994331	55994331	G	A	1	0	0	0	0	0	0	0	1	11228	991	35	3		3	OR5F1	11	55994331	Silent	SNP	G	11LU016_TP	390708	55994331	79092291	345	401											
OR8J3	0	.	GRCh38	chr11	56137188	56137188	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggtgcaatatcacagtaAaaatgattgattatattaga	18	12	8	3	0	1	4	1	2	0	2	1	4	1	4	0	1	1	2	0	1	8	6	novel		11LU016_TP	11LU016_NB	A	A																c.531T>A	p.Phe177Leu	p.F177L	ENST00000301529	1/1	85	78	7	108	108	0	strelka-varscan-mutect	OR8J3,missense_variant,p.Phe177Leu,ENST00000301529,NM_001004064.1;OR5BN1P,upstream_gene_variant,,ENST00000532955,;	T	ENST00000301529	Transcript	missense_variant	531/948	531/948	177/315	F/L	ttT/ttA		1		-1	OR8J3	HGNC	HGNC:15312	protein_coding	YES	CCDS31520.1	ENSP00000301529	Q8NGG0	A0A126GVE3	UPI0000061E99	NM_001004064.1	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF249,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	2	56137188	56137188	A	T	1	0	0	0	0	1	0	0	0	11310	11	1	4		4	OR8J3	11	56137188	Missense_Mutation	SNP	A	11LU016_TP	142857	56137188	78949434	346	402											
OR5T2	0	.	GRCh38	chr11	56232375	56232375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagacttttctcctcccttCagcagaatacatcttcagaa	12	12	5	12	0	4	3	2	0	2	3	6	4	5	3	2	0	2	1	2	0	4	5			11LU016_TP	11LU016_NB	C	C																c.811G>A	p.Glu271Lys	p.E271K	ENST00000313264	1/1	54	41	13	66	66	0	strelka-varscan-mutect	OR5T2,missense_variant,p.Glu271Lys,ENST00000313264,NM_001004746.1;	T	ENST00000313264	Transcript	missense_variant	811/1080	811/1080	271/359	E/K	Gaa/Aaa	COSM4641496,COSM5597271	1		-1	OR5T2	HGNC	HGNC:15296	protein_coding	YES	CCDS31523.1	ENSP00000323688	Q8NGG2		UPI0000061E97	NM_001004746.1	deleterious(0.04)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF119,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1,1						MODERATE	1	SNV			1,1	1										PASS		.	.												T	3	4	2	56232375	56232375	C	T	1	0	0	0	0	1	0	0	0	11250	835	29	3		3	OR5T2	11	56232375	Missense_Mutation	SNP	C	11LU016_TP	95187	56232375	78854247	347	403											
OR9G1	0	.	GRCh38	chr11	56700759	56700759	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttatgaccgctacgtggcCatctccaagcccctgcttta	7	11	8	15	2	1	1	0	1	1	0	2	1	1	1	5	1	3	3	5	1	4	4	rs753546668		11LU016_TP	11LU016_NB	C	C																c.372C>A	p.=	p.A124A	ENST00000312153	1/1	272	231	41	240	240	0	strelka-varscan-mutect	OR9G1,synonymous_variant,p.=,ENST00000312153,NM_001005213.1;	A	ENST00000312153	Transcript	synonymous_variant	372/918	372/918	124/305	A	gcC/gcA	rs753546668,COSM3359235	1		1	OR9G1	HGNC	HGNC:15319	protein_coding	YES	CCDS31536.1	ENSP00000309012	Q8NH87		UPI0000061E7E	NM_001005213.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF158,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											0,1						LOW	1	SNV			0,1	1										PASS		rs753546668	.												A	2	1	2	56700759	56700759	C	A	1	0	0	0	0	0	0	0	1	11317	581	21	2		2	OR9G1	11	56700759	Silent	SNP	C	11LU016_TP	468384	56700759	78385863	348	404											
OR9G4	0	.	GRCh38	chr11	56743274	56743274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaccacaaaaatgcaggcGgaatgtattggcagtatggg	13	10	12	6	1	0	0	0	0	0	0	0	1	0	1	1	4	2	4	1	4	6	5	rs145468151		11LU016_TP	11LU016_NB	G	G																c.538C>T	p.Arg180Cys	p.R180C	ENST00000302957	1/1	317	300	17	319	319	0	strelka-varscan-mutect	OR9G4,missense_variant,p.Arg180Cys,ENST00000302957,NM_001005284.1;MIR6128,upstream_gene_variant,,ENST00000615528,;OR9G3P,downstream_gene_variant,,ENST00000525553,;	A	ENST00000302957	Transcript	missense_variant	538/985	538/984	180/327	R/C	Cgc/Tgc	rs145468151	1		-1	OR9G4	HGNC	HGNC:15322	protein_coding	YES	CCDS31537.1	ENSP00000307515	Q8NGQ1		UPI00001D77DB	NM_001005284.1	deleterious(0.05)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF141,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs145468151	.												A	3	1	2	56743274	56743274	G	A	1	0	0	0	0	1	0	0	0	11318	1116	39	1		1	OR9G4	11	56743274	Missense_Mutation	SNP	G	11LU016_TP	42515	56743274	78343348	349	405											
BEST1	0	.	GRCh38	chr11	61956947	61956947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacctgtcaatgaaggcGtggcttggaggtcgaatccg	9	8	14	10	3	1	1	1	1	0	0	3	3	2	2	3	4	1	1	3	4	4	1	rs776011957		11LU016_TP	11LU016_NB	G	G																c.405G>A	p.=	p.A135A	ENST00000449131	4/9	620	438	182	530	530	0	strelka-varscan-mutect	BEST1,synonymous_variant,p.=,ENST00000449131,NM_001139443.1;BEST1,synonymous_variant,p.=,ENST00000378043,NM_004183.3,NM_001300787.1;BEST1,synonymous_variant,p.=,ENST00000526988,;BEST1,intron_variant,,ENST00000534553,;FTH1,downstream_gene_variant,,ENST00000530019,;FTH1,downstream_gene_variant,,ENST00000529191,;FTH1,downstream_gene_variant,,ENST00000529631,;BEST1,synonymous_variant,p.=,ENST00000524926,;BEST1,non_coding_transcript_exon_variant,,ENST00000524877,;BEST1,non_coding_transcript_exon_variant,,ENST00000529265,;BEST1,downstream_gene_variant,,ENST00000533521,;	A	ENST00000449131	Transcript	synonymous_variant	491/4267	405/1815	135/604	A	gcG/gcA	rs776011957	1		1	BEST1	HGNC	HGNC:12703	protein_coding	YES	CCDS44623.1	ENSP00000399709	O76090		UPI0000232791	NM_001139443.1			4/9		Pfam_domain:PF01062,hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF4																	LOW	1	SNV	1			1										PASS		rs776011957	.												A	2	1	2	61956947	61956947	G	A	1	0	0	0	0	0	0	0	1	1552	1132	40	1		1	BEST1	11	61956947	Silent	SNP	G	11LU016_TP	5213673	61956947	73129675	350	406											
EHD1	0	.	GRCh38	chr11	64860216	64860216	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatcttgtcctcatggttcTtcagagccttgatcacttcc	6	15	8	12	0	5	2	3	1	2	1	7	3	7	3	3	2	1	1	3	2	0	5	novel		11LU016_TP	11LU016_NB	T	T																c.665A>G	p.Lys222Arg	p.K222R	ENST00000621096	4/6	353	314	39	388	388	0	strelka-varscan-mutect	EHD1,missense_variant,p.Lys208Arg,ENST00000320631,NM_006795.3;EHD1,missense_variant,p.Lys208Arg,ENST00000359393,NM_001282444.1;EHD1,missense_variant,p.Lys222Arg,ENST00000621096,NM_001282445.1;EHD1,missense_variant,p.Lys222Arg,ENST00000433803,;EHD1,missense_variant,p.Lys72Arg,ENST00000421510,;EHD1,missense_variant,p.Lys72Arg,ENST00000455148,;EHD1,non_coding_transcript_exon_variant,,ENST00000466015,;EHD1,upstream_gene_variant,,ENST00000484846,;EHD1,upstream_gene_variant,,ENST00000498472,;	C	ENST00000621096	Transcript	missense_variant	748/3336	665/1647	222/548	K/R	aAg/aGg		1		-1	EHD1	HGNC	HGNC:3242	protein_coding	YES	CCDS73315.1	ENSP00000479153		A0A024R571	UPI0000EE46CF	NM_001282445.1	tolerated(0.86)		4/6		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51718,hmmpanther:PTHR11216:SF67,hmmpanther:PTHR11216,Gene3D:3.40.50.300,Pfam_domain:PF00350,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	2	64860216	64860216	T	C	1	0	0	0	0	1	0	0	0	4813	1609	56	5		5	EHD1	11	64860216	Missense_Mutation	SNP	T	11LU016_TP	2903269	64860216	70226406	351	407											
ATG2A	0	.	GRCh38	chr11	64910930	64910930	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtccgcagctcccaggaCagctgcacggctgtgcccgt	5	6	12	18	4	0	0	0	0	0	0	2	1	2	1	4	2	4	5	4	2	0	0	novel		11LU016_TP	11LU016_NB	C	C																c.1491G>C	p.=	p.L497L	ENST00000377264	11/41	328	271	57	386	386	0	strelka-varscan-mutect	ATG2A,synonymous_variant,p.=,ENST00000377264,NM_015104.2;ATG2A,synonymous_variant,p.=,ENST00000418259,;ATG2A,intron_variant,,ENST00000421419,;ATG2A,downstream_gene_variant,,ENST00000461701,;ATG2A,downstream_gene_variant,,ENST00000461955,;	G	ENST00000377264	Transcript	synonymous_variant	1604/6357	1491/5817	497/1938	L	ctG/ctC		1		-1	ATG2A	HGNC	HGNC:29028	protein_coding	YES	CCDS31602.1	ENSP00000366475	Q2TAZ0		UPI00001C1F21	NM_015104.2			11/41		hmmpanther:PTHR13190,hmmpanther:PTHR13190:SF21																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	2	64910930	64910930	C	G	1	0	0	0	0	0	0	0	1	1245	465	17	4		4	ATG2A	11	64910930	Silent	SNP	C	11LU016_TP	50714	64910930	70175692	352	408											
CDCA5	0	.	GRCh38	chr11	65079437	65079437	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtcatgtctggggcccaGggctttgcacaaaccctggg	8	8	14	11	0	2	1	1	0	1	1	2	1	2	1	2	4	2	2	2	4	1	1	novel		11LU016_TP	11LU016_NB	G	G																c.594C>G	p.=	p.P198P	ENST00000275517	5/6	328	266	62	248	247	1	strelka-varscan-mutect	CDCA5,synonymous_variant,p.=,ENST00000275517,NM_080668.3;CDCA5,synonymous_variant,p.=,ENST00000404147,;ZFPL1,upstream_gene_variant,,ENST00000294258,NM_006782.3;CDCA5,upstream_gene_variant,,ENST00000529290,;ZFPL1,upstream_gene_variant,,ENST00000526334,;CDCA5,upstream_gene_variant,,ENST00000525464,;ZFPL1,upstream_gene_variant,,ENST00000526945,;ZFPL1,upstream_gene_variant,,ENST00000525509,;ZFPL1,upstream_gene_variant,,ENST00000526791,;CDCA5,missense_variant,p.Pro66Arg,ENST00000524733,;CDCA5,3_prime_UTR_variant,,ENST00000527430,;CDCA5,non_coding_transcript_exon_variant,,ENST00000479032,;CDCA5,non_coding_transcript_exon_variant,,ENST00000531401,;CDCA5,intron_variant,,ENST00000533015,;ZFPL1,upstream_gene_variant,,ENST00000533216,;ZFPL1,upstream_gene_variant,,ENST00000526289,;ZFPL1,upstream_gene_variant,,ENST00000526440,;ZFPL1,upstream_gene_variant,,ENST00000453524,;CDCA5,downstream_gene_variant,,ENST00000462902,;ZFPL1,upstream_gene_variant,,ENST00000531761,;	C	ENST00000275517	Transcript	synonymous_variant	767/2587	594/759	198/252	P	ccC/ccG		1		-1	CDCA5	HGNC	HGNC:14626	protein_coding	YES	CCDS8091.1	ENSP00000275517	Q96FF9	A0A024R5D6	UPI000006E2A4	NM_080668.3			5/6		hmmpanther:PTHR31092,hmmpanther:PTHR31092:SF2,Pfam_domain:PF09666																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	2	65079437	65079437	G	C	1	0	0	0	0	0	0	0	1	2792	987	35	4		4	CDCA5	11	65079437	Silent	SNP	G	11LU016_TP	168507	65079437	70007185	353	409											
SCYL1	0	.	GRCh38	chr11	65537854	65537854	+	Frame_Shift_Del	DEL	G	G	-																															agcaggacgactggagcaccGggggccaagtgagccgtgct																								rs371045520		11LU016_TP	11LU016_NB	G	G																c.2009delG	p.Gly670AlafsTer3	p.G670Afs*3	ENST00000270176	15/18	95	68	27	111	111	0	sindel-varindel-pindel	SCYL1,frameshift_variant,p.Gly670AlafsTer3,ENST00000524944,;SCYL1,frameshift_variant,p.Gly670AlafsTer3,ENST00000270176,NM_020680.3;SCYL1,frameshift_variant,p.Gly527AlafsTer3,ENST00000527009,;SCYL1,frameshift_variant,p.Gly669AlafsTer3,ENST00000525364,;SCYL1,frameshift_variant,p.Gly653AlafsTer3,ENST00000420247,NM_001048218.1;SCYL1,frameshift_variant,p.Gly670AlafsTer3,ENST00000533862,;SCYL1,frameshift_variant,p.Gly142AlafsTer3,ENST00000528545,;SCYL1,3_prime_UTR_variant,,ENST00000279270,;LTBP3,downstream_gene_variant,,ENST00000301873,NM_001130144.2;LTBP3,downstream_gene_variant,,ENST00000322147,NM_001164266.1,NM_021070.4;LTBP3,downstream_gene_variant,,ENST00000530866,;LTBP3,downstream_gene_variant,,ENST00000532932,;LTBP3,downstream_gene_variant,,ENST00000526927,;LTBP3,downstream_gene_variant,,ENST00000530785,;LTBP3,downstream_gene_variant,,ENST00000529189,;LTBP3,downstream_gene_variant,,ENST00000532661,;LTBP3,downstream_gene_variant,,ENST00000529371,;SCYL1,non_coding_transcript_exon_variant,,ENST00000534462,;SCYL1,3_prime_UTR_variant,,ENST00000531601,;SCYL1,non_coding_transcript_exon_variant,,ENST00000532290,;LTBP3,downstream_gene_variant,,ENST00000528516,;LTBP3,downstream_gene_variant,,ENST00000525443,;LTBP3,downstream_gene_variant,,ENST00000529582,;SCYL1,downstream_gene_variant,,ENST00000526454,;SCYL1,downstream_gene_variant,,ENST00000524897,;SCYL1,downstream_gene_variant,,ENST00000529178,;LTBP3,downstream_gene_variant,,ENST00000530990,;SCYL1,downstream_gene_variant,,ENST00000529981,;LTBP3,downstream_gene_variant,,ENST00000526124,;	-	ENST00000270176	Transcript	frameshift_variant	2082/2642	2005/2427	669/808	G/X	Ggg/gg	rs371045520	1		1	SCYL1	HGNC	HGNC:14372	protein_coding	YES	CCDS41672.1	ENSP00000270176	Q96KG9		UPI0000035B94	NM_020680.3			15/18		hmmpanther:PTHR12984:SF3,hmmpanther:PTHR12984																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	2	65537854	65537854	G	-	1	0	1	0	1	0	0	0	0	14219	1116	39	0		0	SCYL1	11	65537854	Frame_Shift_Del	DEL	G	11LU016_TP	458417	65537854	69548768	354	410											
GAL3ST3	0	.	GRCh38	chr11	66043623	66043623	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccacagtcatgtgcttgggGcgcggcggcgagttccgcag	5	7	17	12	5	1	0	1	0	0	0	2	1	2	0	2	4	1	3	2	4	0	2	novel		11LU016_TP	11LU016_NB	G	G																c.180C>A	p.=	p.R60R	ENST00000312006	3/3	135	107	28	175	175	0	strelka-varscan-mutect	GAL3ST3,synonymous_variant,p.=,ENST00000312006,NM_033036.2;GAL3ST3,synonymous_variant,p.=,ENST00000527878,;GAL3ST3,downstream_gene_variant,,ENST00000527048,;	T	ENST00000312006	Transcript	synonymous_variant	462/2133	180/1296	60/431	R	cgC/cgA		1		-1	GAL3ST3	HGNC	HGNC:24144	protein_coding	YES	CCDS8128.1	ENSP00000308591	Q96A11		UPI0000071842	NM_033036.2			3/3		hmmpanther:PTHR14647:SF1,hmmpanther:PTHR14647,Gene3D:3.40.50.300,Pfam_domain:PF06990,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	66043623	66043623	G	T	1	0	0	0	0	0	0	0	1	6067	1190	42	2		2	GAL3ST3	11	66043623	Silent	SNP	G	11LU016_TP	505769	66043623	69042999	355	411											
PPP1CA	0	.	GRCh38	chr11	67400912	67400912	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtcgtagtactggccgtgTatgtcacctgtgacccaggg	7	10	14	10	2	1	1	1	1	0	0	2	1	1	1	3	3	1	3	3	3	3	3	novel		11LU016_TP	11LU016_NB	T	T																c.228A>T	p.=	p.I76I	ENST00000312989	3/7	223	165	58	169	169	0	strelka-varscan-mutect	PPP1CA,synonymous_variant,p.=,ENST00000376745,NM_002708.3;PPP1CA,synonymous_variant,p.=,ENST00000312989,NM_001008709.1;PPP1CA,synonymous_variant,p.=,ENST00000358239,NM_206873.1;PPP1CA,synonymous_variant,p.=,ENST00000527663,;PPP1CA,synonymous_variant,p.=,ENST00000542876,;PPP1CA,synonymous_variant,p.=,ENST00000546202,;RAD9A,downstream_gene_variant,,ENST00000307980,NM_004584.2;TBC1D10C,upstream_gene_variant,,ENST00000542590,NM_198517.3;TBC1D10C,upstream_gene_variant,,ENST00000526387,NM_001256508.1;TBC1D10C,upstream_gene_variant,,ENST00000312390,;RAD9A,downstream_gene_variant,,ENST00000544620,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000532446,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000537694,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000529724,;RAD9A,downstream_gene_variant,,ENST00000535644,;RAD9A,downstream_gene_variant,,ENST00000529100,;RAD9A,downstream_gene_variant,,ENST00000543808,;PPP1CA,upstream_gene_variant,,ENST00000532279,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000526510,;TBC1D10C,upstream_gene_variant,,ENST00000526474,;TBC1D10C,upstream_gene_variant,,ENST00000529635,;RAD9A,downstream_gene_variant,,ENST00000530934,;TBC1D10C,upstream_gene_variant,,ENST00000530967,;RAD9A,downstream_gene_variant,,ENST00000538013,;TBC1D10C,upstream_gene_variant,,ENST00000529132,;TBC1D10C,upstream_gene_variant,,ENST00000533745,;	A	ENST00000312989	Transcript	synonymous_variant	239/1389	228/1026	76/341	I	atA/atT		1		-1	PPP1CA	HGNC	HGNC:9281	protein_coding	YES	CCDS31618.1	ENSP00000326031	P62136	A0A140VJS9	UPI0000070A42	NM_001008709.1			3/7		hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF255,Pfam_domain:PF00149,Gene3D:3.60.21.10,SMART_domains:SM00156,Superfamily_domains:SSF56300,Prints_domain:PR00114																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	67400912	67400912	T	A	1	0	0	0	0	0	0	0	1	12459	1628	57	4		4	PPP1CA	11	67400912	Silent	SNP	T	11LU016_TP	1357289	67400912	67685710	356	412											
SHANK2	0	.	GRCh38	chr11	70485908	70485908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagactggctggcttcttgCtgtctgcagagttggttggt	6	14	14	7	0	2	2	0	0	2	2	2	2	2	2	0	4	2	6	0	4	1	4	novel		11LU016_TP	11LU016_NB	C	C																c.2621G>T	p.Ser874Ile	p.S874I	ENST00000338508	10/11	684	581	103	606	604	2	strelka-varscan-mutect	SHANK2,missense_variant,p.Ser866Ile,ENST00000409161,;SHANK2,missense_variant,p.Ser1462Ile,ENST00000601538,NM_012309.4;SHANK2,missense_variant,p.Ser874Ile,ENST00000449833,;SHANK2,missense_variant,p.Ser874Ile,ENST00000338508,NM_133266.4;SHANK2,missense_variant,p.Ser741Ile,ENST00000424924,;SHANK2,intron_variant,,ENST00000412252,;SHANK2,intron_variant,,ENST00000357171,;SHANK2,downstream_gene_variant,,ENST00000409530,;SHANK2,downstream_gene_variant,,ENST00000449116,;	A	ENST00000338508	Transcript	missense_variant	2672/7271	2621/3786	874/1261	S/I	aGc/aTc		1		-1	SHANK2	HGNC	HGNC:14295	protein_coding	YES	CCDS76448.1	ENSP00000345193		A6NHU9	UPI0001B09234	NM_133266.4	tolerated(0.25)		10/11		hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	2	70485908	70485908	C	A	1	0	0	0	0	1	0	0	0	14524	797	28	2		2	SHANK2	11	70485908	Missense_Mutation	SNP	C	11LU016_TP	3084996	70485908	64600714	357	413											
SHANK2	0	.	GRCh38	chr11	70486707	70486707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacataattcccggggccggCtgtgccgctgctcgcggagg	5	7	16	13	5	0	0	0	0	0	0	2	2	1	1	3	5	2	3	3	5	1	2	novel		11LU016_TP	11LU016_NB	C	C																c.1822G>T	p.Ala608Ser	p.A608S	ENST00000338508	10/11	388	324	64	526	525	1	strelka-varscan-mutect	SHANK2,missense_variant,p.Ala600Ser,ENST00000409161,;SHANK2,missense_variant,p.Ala1196Ser,ENST00000601538,NM_012309.4;SHANK2,missense_variant,p.Ala608Ser,ENST00000449833,;SHANK2,missense_variant,p.Ala608Ser,ENST00000338508,NM_133266.4;SHANK2,missense_variant,p.Ala475Ser,ENST00000424924,;SHANK2,intron_variant,,ENST00000412252,;SHANK2,intron_variant,,ENST00000357171,;SHANK2,downstream_gene_variant,,ENST00000409530,;SHANK2,downstream_gene_variant,,ENST00000449116,;	A	ENST00000338508	Transcript	missense_variant	1873/7271	1822/3786	608/1261	A/S	Gcc/Tcc		1		-1	SHANK2	HGNC	HGNC:14295	protein_coding	YES	CCDS76448.1	ENSP00000345193		A6NHU9	UPI0001B09234	NM_133266.4	tolerated(0.66)		10/11		Low_complexity_(Seg):seg,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	2	70486707	70486707	C	A	1	0	0	0	0	1	0	0	0	14524	797	28	2		2	SHANK2	11	70486707	Missense_Mutation	SNP	C	11LU016_TP	799	70486707	64599915	358	414											
LRRC32	0	.	GRCh38	chr11	76659895	76659895	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggattcccctgcaggtaGaggcgccggaggctggtctc	6	8	16	11	2	1	1	0	0	1	1	3	3	2	3	3	6	1	3	3	6	1	2	novel		11LU016_TP	11LU016_NB	G	G																c.1698C>A	p.=	p.L566L	ENST00000407242	3/3	370	326	44	367	367	0	strelka-varscan-mutect	LRRC32,synonymous_variant,p.=,ENST00000407242,NM_005512.2;LRRC32,synonymous_variant,p.=,ENST00000260061,NM_001128922.1;LRRC32,synonymous_variant,p.=,ENST00000404995,;LRRC32,downstream_gene_variant,,ENST00000421973,;RP11-672A2.4,upstream_gene_variant,,ENST00000531511,;AP001189.4,intron_variant,,ENST00000447519,;LRRC32,intron_variant,,ENST00000464145,;	T	ENST00000407242	Transcript	synonymous_variant	1941/4311	1698/1989	566/662	L	ctC/ctA		1		-1	LRRC32	HGNC	HGNC:4161	protein_coding	YES	CCDS8245.1	ENSP00000384126	Q14392	A0A024R5J7	UPI000012B0DF	NM_005512.2			3/3		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF337,SMART_domains:SM00368,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	76659895	76659895	G	T	1	0	0	0	0	0	0	0	1	8882	929	33	2		2	LRRC32	11	76659895	Silent	SNP	G	11LU016_TP	6173188	76659895	58426727	359	415											
MYO7A	0	.	GRCh38	chr11	77198518	77198518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtctccccaagaacgacGtcatcgtggccgtcaactgg	9	7	10	15	4	3	1	2	0	1	1	5	2	3	1	4	2	2	0	4	2	3	0			11LU016_TP	11LU016_NB	G	G																c.4465G>T	p.Val1489Phe	p.V1489F	ENST00000409709	34/49	168	133	35	144	144	0	strelka-mutect	MYO7A,missense_variant,p.Val1489Phe,ENST00000409709,NM_000260.3;MYO7A,missense_variant,p.Val1489Phe,ENST00000458637,NM_001127180.1;MYO7A,missense_variant,p.Val1478Phe,ENST00000409619,;MYO7A,missense_variant,p.Val670Phe,ENST00000458169,;MYO7A,upstream_gene_variant,,ENST00000605744,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;	T	ENST00000409709	Transcript	missense_variant	4737/7462	4465/6648	1489/2215	V/F	Gtc/Ttc	COSM1492731	1		1	MYO7A	HGNC	HGNC:7606	protein_coding	YES	CCDS53683.1	ENSP00000386331	Q13402		UPI00001FAFE6	NM_000260.3	tolerated(0.71)		34/49		PROSITE_profiles:PS50057											1						MODERATE	1	SNV	1		1	1										PASS		rs1265094428	.												T	3	4	2	77198518	77198518	G	T	1	0	0	0	0	1	0	0	0	10083	1145	40	1		1	MYO7A	11	77198518	Missense_Mutation	SNP	G	11LU016_TP	538623	77198518	57888104	360	416											
PCF11	0	.	GRCh38	chr11	83164210	83164210	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtcttttcttatagcccGaggagccttcaacacctggt	8	14	8	11	1	3	0	1	0	2	0	3	2	3	1	3	2	3	0	3	2	3	6	novel		11LU016_TP	11LU016_NB	G	G																c.511G>T	p.Glu171Ter	p.E171*	ENST00000298281	4/16	117	91	26	113	113	0	strelka-varscan-mutect	PCF11,stop_gained,p.Glu171Ter,ENST00000298281,NM_015885.3;PCF11,stop_gained,p.Glu171Ter,ENST00000530660,;PCF11,stop_gained,p.Glu171Ter,ENST00000530304,;PCF11,downstream_gene_variant,,ENST00000533018,;	T	ENST00000298281	Transcript	stop_gained	963/7677	511/4668	171/1555	E/*	Gag/Tag		1		1	PCF11	HGNC	HGNC:30097	protein_coding	YES	CCDS44689.1	ENSP00000298281	O94913		UPI00001BB2B7	NM_015885.3			4/16		hmmpanther:PTHR15921,hmmpanther:PTHR15921:SF3																	HIGH	1	SNV	1			1										PASS		rs1391506247	.												T	4	4	2	83164210	83164210	G	T	1	0	0	0	0	0	1	0	0	11661	1072	37	1		1	PCF11	11	83164210	Nonsense_Mutation	SNP	G	11LU016_TP	5965692	83164210	51922412	361	417											
ANKRD42	0	.	GRCh38	chr11	83211411	83211411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcatagaagatgtggaCtacaatggaaaccttccagg	14	9	11	7	0	0	2	0	0	0	2	1	4	1	4	2	3	3	2	2	3	6	4	rs761893987		11LU016_TP	11LU016_NB	C	C																c.567C>G	p.Asp189Glu	p.D189E	ENST00000533342	5/11	255	236	19	206	206	0	strelka-varscan-mutect	ANKRD42,missense_variant,p.Asp189Glu,ENST00000393389,NM_001300977.1;ANKRD42,missense_variant,p.Asp189Glu,ENST00000526731,NM_001300976.1;ANKRD42,missense_variant,p.Asp188Glu,ENST00000260047,NM_001300973.1;ANKRD42,missense_variant,p.Asp161Glu,ENST00000393392,NM_182603.3;ANKRD42,missense_variant,p.Asp189Glu,ENST00000533342,NM_001300975.1;ANKRD42,missense_variant,p.Asp189Glu,ENST00000531895,NM_001300972.1;ANKRD42,missense_variant,p.Asp76Glu,ENST00000528722,;RP11-727A23.7,intron_variant,,ENST00000531869,;RP11-727A23.1,upstream_gene_variant,,ENST00000463987,;RP11-727A23.8,downstream_gene_variant,,ENST00000533906,;	G	ENST00000533342	Transcript	missense_variant	593/1949	567/1584	189/527	D/E	gaC/gaG	rs761893987	1		1	ANKRD42	HGNC	HGNC:26752	protein_coding	YES	CCDS76459.1	ENSP00000435790		E9PIL2	UPI0001F781C9	NM_001300975.1	deleterious(0.02)		5/11		PROSITE_profiles:PS50297,hmmpanther:PTHR24201,hmmpanther:PTHR24201:SF2,Pfam_domain:PF13637,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs761893987	.												G	3	3	2	83211411	83211411	C	G	1	0	0	0	0	1	0	0	0	776	564	20	4		4	ANKRD42	11	83211411	Missense_Mutation	SNP	C	11LU016_TP	47201	83211411	51875211	362	418											
FAT3	0	.	GRCh38	chr11	92857220	92857221	+	Frame_Shift_Del	DEL	TG	TG	-																															cacctttgtcacaggaggacTgtgtccggggtccaacgatc																								novel		11LU016_TP	11LU016_NB	TG	TG																c.10925_10926delGT	p.Cys3642SerfsTer22	p.C3642Sfs*22	ENST00000525166	19/27	231	174	57	351	350	1	sindel-varindel-pindel	FAT3,frameshift_variant,p.Cys3792SerfsTer22,ENST00000409404,NM_001008781.2;FAT3,frameshift_variant,p.Cys3642SerfsTer22,ENST00000525166,;FAT3,frameshift_variant,p.Cys127SerfsTer22,ENST00000533797,;	-	ENST00000525166	Transcript	frameshift_variant	10944-10945/18699	10922-10923/13320	3641/4439	L/X	cTG/c		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895				19/27		hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026																	HIGH	1	deletion	5	3		1										PASS		.	.												-	7	5	2	92857220	92857220	TG	-	1	0	1	0	1	0	0	0	0	5551	1580	55	0		0	FAT3	11	92857220	Frame_Shift_Del	DEL	TG	11LU016_TP	9645809	92857220	42229402	363	419											
CWF19L2	0	.	GRCh38	chr11	107416260	107416260	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtttctttgaatttattTgccttttcaagttgaacttt	9	22	5	5	0	2	2	1	2	1	0	2	2	2	2	1	0	2	2	1	0	5	10	novel		11LU016_TP	11LU016_NB	T	T																c.1566A>C	p.=	p.A522A	ENST00000282251	10/18	115	96	19	88	88	0	strelka-varscan-mutect	CWF19L2,synonymous_variant,p.=,ENST00000282251,NM_152434.2;CWF19L2,synonymous_variant,p.=,ENST00000431778,;CWF19L2,synonymous_variant,p.=,ENST00000532251,;	G	ENST00000282251	Transcript	synonymous_variant	1594/3278	1566/2685	522/894	A	gcA/gcC		1		-1	CWF19L2	HGNC	HGNC:26508	protein_coding	YES	CCDS8336.2	ENSP00000282251	Q2TBE0		UPI00005A81B4	NM_152434.2			10/18		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12072,hmmpanther:PTHR12072:SF5																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	2	107416260	107416260	T	G	1	0	0	0	0	0	0	0	1	3882	1799	63	5		5	CWF19L2	11	107416260	Silent	SNP	T	11LU016_TP	14559040	107416260	27670362	364	420											
JAML	0	.	GRCh38	chr11	118210534	118210534	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccaccgccttcttgaacAcctggctctcccctttgagg	6	11	8	16	1	2	2	0	2	2	0	3	2	2	2	6	2	2	2	6	2	2	4	novel		11LU016_TP	11LU016_NB	A	A																c.377T>A	p.Val126Glu	p.V126E	ENST00000356289	4/10	231	161	70	215	215	0	strelka-varscan-mutect	JAML,missense_variant,p.Val116Glu,ENST00000292067,NM_153206.2;JAML,missense_variant,p.Val126Glu,ENST00000356289,NM_001098526.1;JAML,missense_variant,p.Val126Glu,ENST00000533261,;JAML,missense_variant,p.Val87Glu,ENST00000526620,NM_001286571.1,NM_001286570.1;JAML,missense_variant,p.Val87Glu,ENST00000524477,;JAML,missense_variant,p.Val126Glu,ENST00000525565,;JAML,missense_variant,p.Val87Glu,ENST00000526595,;JAML,3_prime_UTR_variant,,ENST00000527877,;JAML,non_coding_transcript_exon_variant,,ENST00000534294,;JAML,non_coding_transcript_exon_variant,,ENST00000529164,;JAML,non_coding_transcript_exon_variant,,ENST00000531536,;HSPE1P18,upstream_gene_variant,,ENST00000517602,;	T	ENST00000356289	Transcript	missense_variant	551/1944	377/1185	126/394	V/E	gTg/gAg		1		-1	JAML	HGNC	HGNC:19084	protein_coding	YES	CCDS41723.1	ENSP00000348635	Q86YT9		UPI000000D82D	NM_001098526.1	deleterious(0)		4/10		PROSITE_profiles:PS50835,hmmpanther:PTHR13869,hmmpanther:PTHR13869:SF22,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	118210534	118210534	A	T	1	0	0	0	0	1	0	0	0	7858	159	6	4		4	JAML	11	118210534	Missense_Mutation	SNP	A	11LU016_TP	10794274	118210534	16876088	365	421											
SNX19	0	.	GRCh38	chr11	130914528	130914528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggggcaggtcttttctggcCcctccagcaaagctgtaaca	9	9	11	12	0	2	0	0	0	2	0	3	0	3	0	3	4	3	4	3	4	2	3	rs763675998		11LU016_TP	11LU016_NB	C	C																c.1412G>T	p.Gly471Val	p.G471V	ENST00000265909	1/11	161	108	53	178	176	2	strelka-varscan-mutect	SNX19,missense_variant,p.Gly471Val,ENST00000265909,NM_014758.2;SNX19,missense_variant,p.Gly471Val,ENST00000533214,;SNX19,intron_variant,,ENST00000530356,;SNX19,intron_variant,,ENST00000528555,NM_001301089.1;SNX19,intron_variant,,ENST00000533318,;SNX19,upstream_gene_variant,,ENST00000524460,;SNX19,intron_variant,,ENST00000531608,;	A	ENST00000265909	Transcript	missense_variant	1982/6535	1412/2979	471/992	G/V	gGg/gTg	rs763675998	1		-1	SNX19	HGNC	HGNC:21532	protein_coding	YES	CCDS31721.1	ENSP00000265909	Q92543		UPI000013D6A5	NM_014758.2	tolerated(0.18)		1/11		hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF31																	MODERATE	1	SNV	1			1										PASS		rs763675998	.												A	3	1	2	130914528	130914528	C	A	1	0	0	0	0	1	0	0	0	15211	623	22	2		2	SNX19	11	130914528	Missense_Mutation	SNP	C	11LU016_TP	12703994	130914528	4172094	366	422											
NCAPD3	0	.	GRCh38	chr11	134158456	134158456	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacatggcagggttttcttGgccagcaggaactggcactg	8	10	14	9	0	1	1	0	1	1	0	1	2	1	2	1	5	2	4	1	5	1	3	novel		11LU016_TP	11LU016_NB	G	G																c.3907C>T	p.Gln1303Ter	p.Q1303*	ENST00000534548	30/35	239	218	21	190	190	0	strelka-varscan-mutect	NCAPD3,stop_gained,p.Gln1303Ter,ENST00000534548,NM_015261.2;NCAPD3,downstream_gene_variant,,ENST00000530396,;NCAPD3,downstream_gene_variant,,ENST00000527944,;NCAPD3,upstream_gene_variant,,ENST00000526787,;NCAPD3,3_prime_UTR_variant,,ENST00000534532,;NCAPD3,3_prime_UTR_variant,,ENST00000525964,;NCAPD3,upstream_gene_variant,,ENST00000525432,;	A	ENST00000534548	Transcript	stop_gained	3972/5061	3907/4497	1303/1498	Q/*	Caa/Taa		1		-1	NCAPD3	HGNC	HGNC:28952	protein_coding	YES	CCDS31723.1	ENSP00000433681	P42695		UPI00001C1EFE	NM_015261.2			30/35		PIRSF_domain:PIRSF036508																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	2	134158456	134158456	G	A	1	0	0	0	0	0	1	0	0	10222	1357	47	3		3	NCAPD3	11	134158456	Nonsense_Mutation	SNP	G	11LU016_TP	3243928	134158456	928166	367	423											
WNK1	0	.	GRCh38	chr12	900574	900574	+	Frame_Shift_Del	DEL	C	C	-																															ccgggcagaatcagctgttaCagccccttaagccatctccc																								rs751969478		11LU016_TP	11LU016_NB	C	C																c.7303delC	p.Gln2435SerfsTer44	p.Q2435Sfs*44	ENST00000340908	26/28	335	318	17	404	403	1	varindel-pindel	WNK1,frameshift_variant,p.Gln2596SerfsTer44,ENST00000530271,;WNK1,frameshift_variant,p.Gln2443SerfsTer44,ENST00000537687,NM_001184985.1;WNK1,frameshift_variant,p.Gln2435SerfsTer44,ENST00000340908,NM_213655.4;WNK1,frameshift_variant,p.Gln2183SerfsTer44,ENST00000315939,NM_018979.3;WNK1,frameshift_variant,p.Gln1935SerfsTer44,ENST00000535572,NM_014823.2;WNK1,upstream_gene_variant,,ENST00000544559,;WNK1,upstream_gene_variant,,ENST00000543065,;WNK1,non_coding_transcript_exon_variant,,ENST00000542424,;WNK1,non_coding_transcript_exon_variant,,ENST00000537603,;	-	ENST00000340908	Transcript	frameshift_variant	7946/11208	7303/7905	2435/2634	Q/X	Cag/ag	rs751969478	1		1	WNK1	HGNC	HGNC:14540	protein_coding	YES	CCDS73419.1	ENSP00000341292	Q9H4A3		UPI0001DD21C4	NM_213655.4			26/28		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF46																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	2	900574	900574	C	-	1	0	1	0	1	0	0	0	0	17933	479	17	0		0	WNK1	12	900574	Frame_Shift_Del	DEL	C	11LU016_TP		900574	132374735	368	424											
RP4-816N1.8	0	.	GRCh38	chr12	2849291	2849291	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatttgcttgcttgtgccttGgagagatggtggaggggtaa	7	13	17	4	0	0	1	0	0	0	1	0	5	0	3	1	5	3	3	1	5	1	5	novel		11LU016_TP	11LU016_NB	G	G																c.858C>A	p.=	p.S286S	ENST00000637658	3/3	117	91	26	158	158	0	strelka-varscan-mutect	RP4-816N1.8,synonymous_variant,p.=,ENST00000637658,;ITFG2,intron_variant,,ENST00000537710,;	T	ENST00000637658	Transcript	synonymous_variant	915/1167	858/918	286/305	S	tcC/tcA		1		-1	RP4-816N1.8	Clone_based_vega_gene		protein_coding	YES		ENSP00000489863	A6NCN8		UPI00017BE937				3/3		Pfam_domain:PF15046,hmmpanther:PTHR35156,hmmpanther:PTHR35156:SF1,Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		.	.												T	2	4	2	2849291	2849291	G	T	1	0	0	0	0	0	0	0	1	13779	1335	47	2		2	RP4-816N1.8	12	2849291	Silent	SNP	G	11LU016_TP	1948717	2849291	130426018	369	425											
PRMT8	0	.	GRCh38	chr12	3592299	3592299	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagattacctcactgtccggAggggggaggaaatctacggg	11	7	15	8	2	2	1	1	0	1	1	3	4	3	4	2	6	2	0	2	6	4	2	novel		11LU016_TP	11LU016_NB	A	A																c.1048A>G	p.Arg350Gly	p.R350G	ENST00000382622	9/10	40	31	9	142	142	0	strelka-varscan-mutect	PRMT8,missense_variant,p.Arg350Gly,ENST00000382622,NM_019854.4;PRMT8,missense_variant,p.Arg341Gly,ENST00000452611,NM_001256536.1;PRMT8,non_coding_transcript_exon_variant,,ENST00000261252,;PRMT8,non_coding_transcript_exon_variant,,ENST00000543701,;	G	ENST00000382622	Transcript	missense_variant	1438/2366	1048/1185	350/394	R/G	Agg/Ggg		1		1	PRMT8	HGNC	HGNC:5188	protein_coding	YES	CCDS8521.2	ENSP00000372067	Q9NR22		UPI00005B2E00	NM_019854.4	tolerated(0.1)		9/10		Gene3D:2.70.160.11,PROSITE_profiles:PS51678,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF47,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		rs1226553581	.												G	3	3	2	3592299	3592299	A	G	1	0	0	0	0	1	0	0	0	12673	295	11	5		5	PRMT8	12	3592299	Missense_Mutation	SNP	A	11LU016_TP	743008	3592299	129683010	370	426											
VWF	0	.	GRCh38	chr12	5981937	5981937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttccgaagggtgggcaaaCggtgcggggggcaggagggt	7	6	21	7	3	1	0	0	0	1	0	2	2	2	1	1	8	2	2	1	8	2	1	rs758156301		11LU016_TP	11LU016_NB	C	C																c.7136G>A	p.Arg2379His	p.R2379H	ENST00000261405	42/52	265	201	64	300	300	0	strelka-varscan-mutect	VWF,missense_variant,p.Arg2379His,ENST00000261405,NM_000552.3;	T	ENST00000261405	Transcript	missense_variant	7391/8838	7136/8442	2379/2813	R/H	cGt/cAt	rs758156301,COSM1363489	1		-1	VWF	HGNC	HGNC:12726	protein_coding	YES	CCDS8539.1	ENSP00000261405	P04275		UPI00001AE7EE	NM_000552.3	deleterious(0)		42/52		PIRSF_domain:PIRSF002495											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs758156301	.												T	3	4	2	5981937	5981937	C	T	1	0	0	0	0	1	0	0	0	17806	536	19	1		1	VWF	12	5981937	Missense_Mutation	SNP	C	11LU016_TP	2389638	5981937	127293372	371	427											
RECQL	0	.	GRCh38	chr12	21490225	21490225	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacataatgctggtaactggTaacataagctctttccacct	13	12	6	10	0	1	0	0	0	1	0	2	0	2	0	2	2	5	4	2	2	5	5	novel		11LU016_TP	11LU016_NB	T	T																c.368A>T	p.Tyr123Phe	p.Y123F	ENST00000444129	4/15	120	101	19	93	93	0	strelka-varscan-mutect	RECQL,missense_variant,p.Tyr123Phe,ENST00000444129,NM_032941.2,NM_002907.3;RECQL,missense_variant,p.Tyr123Phe,ENST00000421138,;RECQL,missense_variant,p.Tyr123Phe,ENST00000314748,;RECQL,missense_variant,p.Tyr123Phe,ENST00000396093,;RECQL,missense_variant,p.Tyr123Phe,ENST00000542432,;RECQL,downstream_gene_variant,,ENST00000539672,;RECQL,downstream_gene_variant,,ENST00000536964,;RECQL,downstream_gene_variant,,ENST00000536240,;	A	ENST00000444129	Transcript	missense_variant	837/3702	368/1950	123/649	Y/F	tAc/tTc		1		-1	RECQL	HGNC	HGNC:9948	protein_coding	YES	CCDS31756.1	ENSP00000416739	P46063	A0A024RAV2	UPI0000167E2F	NM_032941.2,NM_002907.3	tolerated(0.25)		4/15		Gene3D:3.40.50.300,Pfam_domain:PF00270,PROSITE_profiles:PS51192,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF72,SMART_domains:SM00487,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00614																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	2	21490225	21490225	T	A	1	0	0	0	0	1	0	0	0	13371	1638	57	4		4	RECQL	12	21490225	Missense_Mutation	SNP	T	11LU016_TP	15508288	21490225	111785084	372	428											
SOX5	0	.	GRCh38	chr12	23846186	23846186	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacataactttattgccaTcaacttcctgaaagagaaag	17	10	6	8	0	1	3	1	1	0	2	2	4	2	3	2	0	3	0	2	0	6	5	novel		11LU016_TP	11LU016_NB	T	T																c.278A>T	p.Asp93Val	p.D93V	ENST00000451604	3/15	254	198	56	190	190	0	strelka-varscan-mutect	SOX5,missense_variant,p.Asp80Val,ENST00000546136,NM_152989.3;SOX5,missense_variant,p.Asp93Val,ENST00000451604,NM_006940.4;SOX5,missense_variant,p.Asp80Val,ENST00000381381,;SOX5,missense_variant,p.Asp58Val,ENST00000537393,;SOX5,missense_variant,p.Asp83Val,ENST00000545921,NM_001261415.1;SOX5,missense_variant,p.Asp80Val,ENST00000541536,NM_001261414.1;SOX5,missense_variant,p.Asp83Val,ENST00000541847,;SOX5,missense_variant,p.Asp58Val,ENST00000441133,;SOX5,missense_variant,p.Asp80Val,ENST00000538083,;SOX5,missense_variant,p.Asp83Val,ENST00000367206,;	A	ENST00000451604	Transcript	missense_variant	380/4261	278/2292	93/763	D/V	gAt/gTt		1		-1	SOX5	HGNC	HGNC:11201	protein_coding	YES	CCDS8699.1	ENSP00000398273	P35711	A0A024RB06	UPI000007405E	NM_006940.4	deleterious(0)		3/15		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF30																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	23846186	23846186	T	A	1	0	0	0	0	1	0	0	0	15280	1435	50	4		4	SOX5	12	23846186	Missense_Mutation	SNP	T	11LU016_TP	2355961	23846186	109429123	373	429											
OVCH1	0	.	GRCh38	chr12	29477440	29477440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catggcctcactggtctctgCcagcaatggtgaaggcaata	10	9	11	11	0	2	1	1	1	1	0	3	1	2	1	2	4	2	2	2	4	4	1			11LU016_TP	11LU016_NB	C	C																c.1147G>T	p.Ala383Ser	p.A383S	ENST00000318184	11/28	356	283	73	215	215	0	strelka-varscan-mutect	OVCH1,missense_variant,p.Ala383Ser,ENST00000318184,NM_183378.2;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;	A	ENST00000318184	Transcript	missense_variant	1147/3405	1147/3405	383/1134	A/S	Gca/Tca	COSM332613	1		-1	OVCH1	HGNC	HGNC:23080	protein_coding	YES		ENSP00000326708	Q7RTY7		UPI000040640A	NM_183378.2	tolerated(0.08)		11/28		Gene3D:2.60.120.290,PROSITE_profiles:PS01180,hmmpanther:PTHR24251,hmmpanther:PTHR24251:SF17,Superfamily_domains:SSF49854											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	2	29477440	29477440	C	A	1	0	0	0	0	1	0	0	0	11393	739	26	2		2	OVCH1	12	29477440	Missense_Mutation	SNP	C	11LU016_TP	5631254	29477440	103797869	374	430											
DENND5B	0	.	GRCh38	chr12	31389403	31389403	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtattaatagcatttacgtAgtggcagaaggttttgcagg	12	13	12	4	1	0	1	0	0	0	1	0	1	0	1	0	3	3	6	0	3	6	8	novel		11LU016_TP	11LU016_NB	A	A																c.3667T>A	p.Tyr1223Asn	p.Y1223N	ENST00000536562	22/23	216	170	46	160	160	0	strelka-varscan-mutect	DENND5B,missense_variant,p.Tyr1188Asn,ENST00000389082,NM_144973.3;DENND5B,missense_variant,p.Tyr1223Asn,ENST00000536562,NM_001308339.1;	T	ENST00000536562	Transcript	missense_variant	3818/4291	3667/3930	1223/1309	Y/N	Tac/Aac		1		-1	DENND5B	HGNC	HGNC:28338	protein_coding	YES	CCDS76542.1	ENSP00000444889		G3V1S3	UPI0000D621CB	NM_001308339.1	deleterious(0)		22/23		PROSITE_profiles:PS50826,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF45,Pfam_domain:PF02759,Superfamily_domains:0052343																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	2	31389403	31389403	A	T	1	0	0	0	0	1	0	0	0	4241	420	15	4		4	DENND5B	12	31389403	Missense_Mutation	SNP	A	11LU016_TP	1911963	31389403	101885906	375	431											
LRRK2	0	.	GRCh38	chr12	40320135	40320135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctagaaaaattccagattGctttgccaataggagaagaa	16	10	8	7	0	0	4	0	0	0	4	2	5	2	4	3	1	2	1	3	1	7	5	novel		11LU016_TP	11LU016_NB	G	G																c.4975G>T	p.Ala1659Ser	p.A1659S	ENST00000298910	34/51	120	82	38	136	136	0	strelka-varscan-mutect	LRRK2,missense_variant,p.Ala1659Ser,ENST00000298910,NM_198578.3;LRRK2,downstream_gene_variant,,ENST00000481256,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	T	ENST00000298910	Transcript	missense_variant	5033/9158	4975/7584	1659/2527	A/S	Gct/Tct		1		1	LRRK2	HGNC	HGNC:18618	protein_coding	YES	CCDS31774.1	ENSP00000298910	Q5S007		UPI00006C128E	NM_198578.3	tolerated(0.11)		34/51		Pfam_domain:PF16095																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	40320135	40320135	G	T	1	0	0	0	0	1	0	0	0	8939	1319	46	2		2	LRRK2	12	40320135	Missense_Mutation	SNP	G	11LU016_TP	8930732	40320135	92955174	376	432											
LRRK2	0	.	GRCh38	chr12	40335053	40335053	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccggatgttggtgatggaGttagcctccaagggttcctt	6	12	13	10	1	0	1	0	1	0	0	2	3	2	3	5	4	1	3	5	4	2	4	novel		11LU016_TP	11LU016_NB	G	G																c.5844G>A	p.=	p.E1948E	ENST00000298910	40/51	290	264	26	277	276	1	strelka-varscan-mutect	LRRK2,synonymous_variant,p.=,ENST00000298910,NM_198578.3;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	A	ENST00000298910	Transcript	synonymous_variant	5902/9158	5844/7584	1948/2527	E	gaG/gaA		1		1	LRRK2	HGNC	HGNC:18618	protein_coding	YES	CCDS31774.1	ENSP00000298910	Q5S007		UPI00006C128E	NM_198578.3			40/51		PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF486,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	40335053	40335053	G	A	1	0	0	0	0	0	0	0	1	8939	1020	36	3		3	LRRK2	12	40335053	Silent	SNP	G	11LU016_TP	14918	40335053	92940256	377	433											
TMEM117	0	.	GRCh38	chr12	44211372	44211372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagaaaggaaatgttaGgatcactttattctggtagg	13	12	12	4	0	2	1	1	0	1	1	2	4	2	4	0	5	0	2	0	5	6	5	novel		11LU016_TP	11LU016_NB	G	G																c.593G>A	p.Arg198Lys	p.R198K	ENST00000266534	5/8	136	129	7	194	194	0	strelka-varscan-mutect	TMEM117,missense_variant,p.Arg198Lys,ENST00000266534,NM_032256.2;TMEM117,missense_variant,p.Arg198Lys,ENST00000551577,NM_001286211.1;TMEM117,missense_variant,p.Arg54Lys,ENST00000550495,NM_001286213.1;TMEM117,non_coding_transcript_exon_variant,,ENST00000553253,;TMEM117,non_coding_transcript_exon_variant,,ENST00000550623,;TMEM117,3_prime_UTR_variant,,ENST00000546868,;	A	ENST00000266534	Transcript	missense_variant	720/2758	593/1545	198/514	R/K	aGg/aAg		1		1	TMEM117	HGNC	HGNC:25308	protein_coding	YES	CCDS8745.1	ENSP00000266534	Q9H0C3		UPI0000037D18	NM_032256.2	deleterious(0.03)		5/8		Pfam_domain:PF15113,hmmpanther:PTHR31226																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	44211372	44211372	G	A	1	0	0	0	0	1	0	0	0	16475	1000	35	3		3	TMEM117	12	44211372	Missense_Mutation	SNP	G	11LU016_TP	3876319	44211372	89063937	378	434											
PRPH	0	.	GRCh38	chr12	49296233	49296233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaacctcgtgctcttcCgcaaggtgagtccgagcccc	8	7	10	16	3	1	1	0	1	1	0	4	2	3	1	5	1	4	3	5	1	2	1	novel		11LU016_TP	11LU016_NB	C	C																c.601C>A	p.Arg201Ser	p.R201S	ENST00000257860	2/9	343	280	63	340	340	0	strelka-varscan-mutect	PRPH,missense_variant,p.Arg201Ser,ENST00000257860,NM_006262.3;PRPH,missense_variant,p.Arg88Ser,ENST00000451891,;PRPH,upstream_gene_variant,,ENST00000532332,;RP11-161H23.9,non_coding_transcript_exon_variant,,ENST00000553259,;PRPH,downstream_gene_variant,,ENST00000551194,;PRPH,non_coding_transcript_exon_variant,,ENST00000533401,;PRPH,non_coding_transcript_exon_variant,,ENST00000537252,;PRPH,upstream_gene_variant,,ENST00000530631,;	A	ENST00000257860	Transcript	missense_variant	2100/3245	601/1413	201/470	R/S	Cgc/Agc		1		1	PRPH	HGNC	HGNC:9461	protein_coding	YES	CCDS8783.1	ENSP00000257860	P41219		UPI000013CF92	NM_006262.3	deleterious(0)		2/9		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,Prints_domain:PR01248,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF29,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	49296233	49296233	C	A	1	0	0	0	0	1	0	0	0	12712	666	23	1		1	PRPH	12	49296233	Missense_Mutation	SNP	C	11LU016_TP	5084861	49296233	83979076	379	435											
TROAP	0	.	GRCh38	chr12	49330223	49330223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgtccctcttaatggaGgctcttctctggatatggtt	6	16	11	8	0	3	0	0	0	3	0	5	2	4	2	1	4	0	2	1	4	2	4	novel		11LU016_TP	11LU016_NB	G	G																c.1378G>T	p.Gly460Cys	p.G460C	ENST00000257909	13/15	218	201	17	287	287	0	strelka-varscan-mutect	TROAP,missense_variant,p.Gly460Cys,ENST00000551245,;TROAP,missense_variant,p.Gly460Cys,ENST00000257909,NM_005480.3;TROAP,missense_variant,p.Gly168Cys,ENST00000547923,;C1QL4,downstream_gene_variant,,ENST00000334221,NM_001008223.1;TROAP,downstream_gene_variant,,ENST00000547807,;TROAP,downstream_gene_variant,,ENST00000550346,;TROAP,downstream_gene_variant,,ENST00000551567,;TROAP,downstream_gene_variant,,ENST00000551192,;TROAP,downstream_gene_variant,,ENST00000546735,;TROAP,downstream_gene_variant,,ENST00000546776,;TROAP,downstream_gene_variant,,ENST00000549891,;TROAP,downstream_gene_variant,,ENST00000548817,;	T	ENST00000257909	Transcript	missense_variant	1454/2527	1378/2337	460/778	G/C	Ggc/Tgc		1		1	TROAP	HGNC	HGNC:12327	protein_coding	YES	CCDS8784.1	ENSP00000257909	Q12815		UPI000007108A	NM_005480.3	deleterious(0)		13/15		hmmpanther:PTHR15289,hmmpanther:PTHR15289:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	49330223	49330223	G	T	1	0	0	0	0	1	0	0	0	17080	1000	35	2		2	TROAP	12	49330223	Missense_Mutation	SNP	G	11LU016_TP	33990	49330223	83945086	380	436											
FMNL3	0	.	GRCh38	chr12	49652103	49652103	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcactgtccacagactccAggccccggacatttggctcc	7	8	8	18	1	1	1	1	0	0	1	4	2	4	2	6	3	0	1	6	3	0	1	novel		11LU016_TP	11LU016_NB	A	A																c.1433T>C	p.Leu478Pro	p.L478P	ENST00000335154	14/26	309	264	45	431	431	0	strelka-varscan-mutect	FMNL3,missense_variant,p.Leu478Pro,ENST00000335154,NM_175736.4;FMNL3,missense_variant,p.Leu478Pro,ENST00000550488,;FMNL3,missense_variant,p.Leu427Pro,ENST00000352151,NM_198900.2;FMNL3,non_coding_transcript_exon_variant,,ENST00000549137,;	G	ENST00000335154	Transcript	missense_variant	1667/12634	1433/3084	478/1027	L/P	cTg/cCg		1		-1	FMNL3	HGNC	HGNC:23698	protein_coding	YES	CCDS44874.1	ENSP00000335655	Q8IVF7		UPI00001FC1CB	NM_175736.4	deleterious(0.03)		14/26		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF230																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	49652103	49652103	A	G	1	0	0	0	0	1	0	0	0	5809	188	7	5		5	FMNL3	12	49652103	Missense_Mutation	SNP	A	11LU016_TP	321880	49652103	83623206	381	437											
KRT77	0	.	GRCh38	chr12	52692801	52692801	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagcctctggacggtgCggttgagctctgcaatctcc	5	10	12	14	2	3	1	0	1	3	0	4	2	3	2	3	3	5	4	3	3	1	1	rs763066575		11LU016_TP	11LU016_NB	C	C																c.1160G>T	p.Arg387Leu	p.R387L	ENST00000341809	6/9	181	168	13	195	194	1	strelka-varscan-mutect	KRT77,missense_variant,p.Arg387Leu,ENST00000341809,NM_175078.2;RP11-641A6.3,splice_region_variant,,ENST00000547533,;KRT77,3_prime_UTR_variant,,ENST00000553168,;KRT77,downstream_gene_variant,,ENST00000550823,;	A	ENST00000341809	Transcript	missense_variant	1189/3305	1160/1737	387/578	R/L	cGc/cTc	rs763066575,COSM5083140	1		-1	KRT77	HGNC	HGNC:20411	protein_coding	YES	CCDS8837.1	ENSP00000342710	Q7Z794		UPI00001D797A	NM_175078.2	deleterious(0.02)		6/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF87,hmmpanther:PTHR23239,Pfam_domain:PF00038,SMART_domains:SM01391											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs763066575	.												A	3	1	2	52692801	52692801	C	A	1	0	0	0	0	1	0	0	0	8372	768	27	1		1	KRT77	12	52692801	Missense_Mutation	SNP	C	11LU016_TP	3040698	52692801	80582508	382	438											
TAC3	0	.	GRCh38	chr12	57012866	57012866	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtcccacaaagaagtcaTgcatgtcacctgcagaaaag	16	7	8	10	0	2	2	2	0	0	2	3	2	3	2	2	0	2	2	2	0	5	1	rs143862988		11LU016_TP	11LU016_NB	T	T																c.248A>T	p.His83Leu	p.H83L	ENST00000615887	5/9	474	426	48	524	523	1	strelka-varscan-mutect	TAC3,missense_variant,p.His83Leu,ENST00000615887,;TAC3,missense_variant,p.His83Leu,ENST00000458521,NM_013251.3;TAC3,missense_variant,p.His83Leu,ENST00000415231,;TAC3,intron_variant,,ENST00000441881,NM_001178054.1;TAC3,missense_variant,p.His83Leu,ENST00000393867,;TAC3,missense_variant,p.His83Leu,ENST00000300108,;TAC3,missense_variant,p.His83Leu,ENST00000438756,;TAC3,missense_variant,p.His83Leu,ENST00000357616,;TAC3,intron_variant,,ENST00000379411,;TAC3,intron_variant,,ENST00000423597,;TAC3,downstream_gene_variant,,ENST00000496757,;	A	ENST00000615887	Transcript	missense_variant	387/1120	248/366	83/121	H/L	cAt/cTt	rs143862988	1		-1	TAC3	HGNC	HGNC:11521	protein_coding	YES	CCDS8928.1	ENSP00000483110	Q9UHF0	A0A024RB47	UPI00000312E8		deleterious(0.01)		5/9		hmmpanther:PTHR15536,hmmpanther:PTHR15536:SF1,PIRSF_domain:PIRSF001843,Prints_domain:PR01828										likely_pathogenic							MODERATE	1	SNV	2		1	1										PASS		rs143862988	.												A	3	1	2	57012866	57012866	T	A	1	0	0	0	0	1	0	0	0	15895	1464	51	4		4	TAC3	12	57012866	Missense_Mutation	SNP	T	11LU016_TP	4320065	57012866	76262443	383	439											
HELB	0	.	GRCh38	chr12	66310358	66310358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagtcataagtgggaaagGtggatgtgggaagaccacaa	15	6	15	5	0	1	1	1	0	0	1	1	5	1	4	1	4	0	0	1	4	4	1	novel		11LU016_TP	11LU016_NB	G	G																c.1430G>A	p.Gly477Asp	p.G477D	ENST00000247815	4/13	361	332	29	263	263	0	strelka-varscan-mutect	HELB,missense_variant,p.Gly477Asp,ENST00000247815,NM_033647.3;HELB,missense_variant,p.Gly477Asp,ENST00000545134,;HELB,missense_variant,p.Gly477Asp,ENST00000542394,;HELB,missense_variant,p.Gly477Asp,ENST00000440906,;	A	ENST00000247815	Transcript	missense_variant	1489/12866	1430/3264	477/1087	G/D	gGt/gAt		1		1	HELB	HGNC	HGNC:17196	protein_coding	YES	CCDS8976.1	ENSP00000247815	Q8NG08		UPI000013CC2D	NM_033647.3	deleterious(0)		4/13		Gene3D:3.40.50.300,Pfam_domain:PF13604,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF135,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	66310358	66310358	G	A	1	0	0	0	0	1	0	0	0	6927	1261	44	3		3	HELB	12	66310358	Missense_Mutation	SNP	G	11LU016_TP	9297492	66310358	66964951	384	440											
CAND1	0	.	GRCh38	chr12	67281989	67281989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatagtgaaaggaaagtaGtgaaaatgattttgaagtta	18	12	11	0	0	0	5	0	5	0	0	0	6	0	6	0	1	0	2	0	1	8	5	novel		11LU016_TP	11LU016_NB	G	G																c.148G>C	p.Val50Leu	p.V50L	ENST00000545606	2/15	88	78	10	148	148	0	strelka-varscan-mutect	CAND1,missense_variant,p.Val50Leu,ENST00000545606,NM_018448.4;CAND1,missense_variant,p.Val26Leu,ENST00000540525,;CAND1,non_coding_transcript_exon_variant,,ENST00000539434,;CAND1,non_coding_transcript_exon_variant,,ENST00000541058,;	C	ENST00000545606	Transcript	missense_variant	585/11251	148/3693	50/1230	V/L	Gtg/Ctg		1		1	CAND1	HGNC	HGNC:30688	protein_coding	YES	CCDS8977.1	ENSP00000442318	Q86VP6		UPI0000037CC5	NM_018448.4	deleterious(0)		2/15		hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF1,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	2	67281989	67281989	G	C	1	0	0	0	0	1	0	0	0	2308	1029	36	4		4	CAND1	12	67281989	Missense_Mutation	SNP	G	11LU016_TP	971631	67281989	65993320	385	441											
FRS2	0	.	GRCh38	chr12	69574285	69574285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagcaaataacacagaatGggacactggctatgacagtg	15	7	12	7	0	0	2	0	1	0	1	0	4	0	4	0	3	2	2	0	3	4	2	novel		11LU016_TP	11LU016_NB	G	G																c.857G>T	p.Trp286Leu	p.W286L	ENST00000550389	7/7	188	164	24	202	202	0	strelka-varscan-mutect	FRS2,missense_variant,p.Trp286Leu,ENST00000550389,NM_001278357.1;FRS2,missense_variant,p.Trp286Leu,ENST00000397997,;FRS2,missense_variant,p.Trp286Leu,ENST00000549921,NM_001278354.1,NM_001278356.1,NM_001278355.1,NM_001278351.1,NM_006654.4,NM_001042555.2,NM_001278353.1;FRS2,downstream_gene_variant,,ENST00000550937,;FRS2,downstream_gene_variant,,ENST00000551325,;FRS2,downstream_gene_variant,,ENST00000547219,;FRS2,downstream_gene_variant,,ENST00000548154,;FRS2,downstream_gene_variant,,ENST00000549092,;FRS2,downstream_gene_variant,,ENST00000547414,;	T	ENST00000550389	Transcript	missense_variant	1103/6600	857/1527	286/508	W/L	tGg/tTg		1		1	FRS2	HGNC	HGNC:16971	protein_coding	YES	CCDS41809.1	ENSP00000447241	Q8WU20	L7RTG7	UPI000003F143	NM_001278357.1	tolerated(0.65)		7/7		hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF40																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	69574285	69574285	G	T	1	0	0	0	0	1	0	0	0	5933	1357	47	2		2	FRS2	12	69574285	Missense_Mutation	SNP	G	11LU016_TP	2292296	69574285	63701024	386	442											
KCNC2	0	.	GRCh38	chr12	75207659	75207659	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcacataggcgaagacgcCcgggtgccggtcgaagaaga	12	3	16	10	5	0	3	0	0	0	3	1	6	0	3	2	3	2	1	2	3	4	1	novel		11LU016_TP	11LU016_NB	C	C																c.325G>T	p.Gly109Cys	p.G109C	ENST00000549446	2/5	262	191	71	259	259	0	strelka-mutect	KCNC2,missense_variant,p.Gly109Cys,ENST00000549446,NM_139137.3;KCNC2,missense_variant,p.Gly109Cys,ENST00000298972,NM_139136.3;KCNC2,missense_variant,p.Gly109Cys,ENST00000350228,NM_153748.2;KCNC2,missense_variant,p.Gly109Cys,ENST00000548513,;KCNC2,missense_variant,p.Gly109Cys,ENST00000550433,NM_001260498.1;KCNC2,missense_variant,p.Gly109Cys,ENST00000393288,NM_001260497.1;KCNC2,missense_variant,p.Gly109Cys,ENST00000540018,NM_001260499.1;	A	ENST00000549446	Transcript	missense_variant	1006/5625	325/1917	109/638	G/C	Ggc/Tgc		1		-1	KCNC2	HGNC	HGNC:6234	protein_coding	YES	CCDS9007.1	ENSP00000449253	Q96PR1	A0A024RBA5	UPI000004DB9B	NM_139137.3	deleterious(0)		2/5		Gene3D:3.30.710.10,Pfam_domain:PF02214,Prints_domain:PR00169,Prints_domain:PR01491,Prints_domain:PR01498,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF157,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	75207659	75207659	C	A	1	0	0	0	0	1	0	0	0	7931	623	22	2		2	KCNC2	12	75207659	Missense_Mutation	SNP	C	11LU016_TP	5633374	75207659	58067650	387	443											
NAV3	0	.	GRCh38	chr12	77968635	77968635	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttggtggaacttcagcagCgagttactcacgcttcccct	7	11	9	14	2	2	0	2	0	0	0	3	2	3	1	3	2	4	3	3	2	2	4			11LU016_TP	11LU016_NB	C	C																c.604C>A	p.=	p.R202R	ENST00000397909	5/40	213	192	21	211	211	0	strelka-varscan-mutect	NAV3,synonymous_variant,p.=,ENST00000397909,NM_001024383.1;NAV3,synonymous_variant,p.=,ENST00000536525,NM_014903.5;NAV3,synonymous_variant,p.=,ENST00000549464,;NAV3,synonymous_variant,p.=,ENST00000550042,;NAV3,synonymous_variant,p.=,ENST00000550503,;NAV3,non_coding_transcript_exon_variant,,ENST00000547725,;	A	ENST00000397909	Transcript	synonymous_variant	777/9821	604/7158	202/2385	R	Cga/Aga	COSM240824,COSM4924980,COSM4924981,COSM5173466	1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1			5/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784,Superfamily_domains:SSF47576											1,1,1,1						LOW	1	SNV	1		1,1,1,1	1										PASS		rs1480204948	.												A	2	1	2	77968635	77968635	C	A	1	0	0	0	0	0	0	0	1	10194	760	27	1		1	NAV3	12	77968635	Silent	SNP	C	11LU016_TP	2760976	77968635	55306674	388	444											
PTPRQ	0	.	GRCh38	chr12	80506098	80506098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgagctatcattccttcccCcaagtagtcccaatggaatc	10	12	6	13	0	1	1	1	1	0	0	5	2	4	2	4	1	1	2	4	1	5	5	rs760006052		11LU016_TP	11LU016_NB	C	C																c.2347C>A	p.Pro783Thr	p.P783T	ENST00000614701	15/45	99	81	18	187	187	0	strelka-varscan-mutect	PTPRQ,missense_variant,p.Pro783Thr,ENST00000614701,NM_001145026.1;PTPRQ,missense_variant,p.Pro825Thr,ENST00000616559,;	A	ENST00000614701	Transcript	missense_variant	2525/8289	2347/6900	783/2299	P/T	Cca/Aca	rs760006052	1		1	PTPRQ	HGNC	HGNC:9679	protein_coding	YES	CCDS73501.1	ENSP00000482885		A0A087WZU1	UPI000192953C	NM_001145026.1	deleterious(0)		15/45		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF414,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		rs760006052	.												A	3	1	2	80506098	80506098	C	A	1	0	0	0	0	1	0	0	0	12964	623	22	2		2	PTPRQ	12	80506098	Missense_Mutation	SNP	C	11LU016_TP	2537463	80506098	52769211	389	445											
CFAP54	0	.	GRCh38	chr12	96792415	96792415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacataacgccaatagaaatGgtaacgcaagcttcaaacaa	19	6	7	9	2	1	1	1	0	0	1	1	2	1	1	1	1	4	3	1	1	8	4	novel		11LU016_TP	11LU016_NB	G	G																c.8766G>T	p.Met2922Ile	p.M2922I	ENST00000524981	63/68	186	156	30	175	175	0	strelka-varscan-mutect	CFAP54,missense_variant,p.Met2922Ile,ENST00000524981,NM_001306084.1;CFAP54,missense_variant,p.Met1893Ile,ENST00000637336,;	T	ENST00000524981	Transcript	missense_variant	8789/9766	8766/9291	2922/3096	M/I	atG/atT		1		1	CFAP54	HGNC	HGNC:26456	protein_coding	YES	CCDS76588.1	ENSP00000431759	Q96N23		UPI0001F77A4D	NM_001306084.1	tolerated(0.57)		63/68		hmmpanther:PTHR33487,hmmpanther:PTHR33487:SF2																	MODERATE	1	SNV	5			1										PASS		rs906447863	.												T	3	4	2	96792415	96792415	G	T	1	0	0	0	0	1	0	0	0	3025	1348	47	2		2	CFAP54	12	96792415	Missense_Mutation	SNP	G	11LU016_TP	16286317	96792415	36482894	390	446											
PAH	0	.	GRCh38	chr12	102843737	102843737	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attttggatggctgtcttctCcagctccagggggagaagct	7	12	13	9	0	2	1	0	0	2	1	4	3	3	2	2	4	2	3	2	4	1	3	novel		11LU016_TP	11LU016_NB	C	C																c.1108G>C	p.Glu370Gln	p.E370Q	ENST00000553106	11/13	323	237	86	305	305	0	strelka-varscan-mutect	PAH,missense_variant,p.Glu370Gln,ENST00000553106,NM_000277.1;PAH,missense_variant,p.Glu365Gln,ENST00000307000,;PAH,missense_variant,p.Glu72Gln,ENST00000635477,;PAH,non_coding_transcript_exon_variant,,ENST00000551114,;PAH,non_coding_transcript_exon_variant,,ENST00000549247,;PAH,non_coding_transcript_exon_variant,,ENST00000635528,;	G	ENST00000553106	Transcript	missense_variant	1581/4122	1108/1359	370/452	E/Q	Gag/Cag		1		-1	PAH	HGNC	HGNC:8582	protein_coding	YES	CCDS9092.1	ENSP00000448059	P00439	A0A024RBG4	UPI00001318A0	NM_000277.1	tolerated(0.1)		11/13		Low_complexity_(Seg):seg,PROSITE_profiles:PS51410,hmmpanther:PTHR11473,Gene3D:1.10.800.10,Pfam_domain:PF00351,PIRSF_domain:PIRSF000336,TIGRFAM_domain:TIGR01268,Superfamily_domains:SSF56534																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	102843737	102843737	C	G	1	0	0	0	0	1	0	0	0	11474	864	30	4		4	PAH	12	102843737	Missense_Mutation	SNP	C	11LU016_TP	6051322	102843737	30431572	391	447											
C12orf42	0	.	GRCh38	chr12	103302234	103302234	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggaggggaaatgggtGgaagcaccggccagcagagg	10	5	18	8	1	1	1	0	0	1	1	1	4	1	4	2	7	2	2	2	7	2	1	novel		11LU016_TP	11LU016_NB	G	G																c.957C>A	p.=	p.S319S	ENST00000378113	6/6	78	62	16	92	92	0	strelka-varscan-mutect	C12orf42,synonymous_variant,p.=,ENST00000548048,;C12orf42,synonymous_variant,p.=,ENST00000378113,NM_001099336.2,NM_001278419.1;C12orf42,synonymous_variant,p.=,ENST00000548883,NM_198521.3;C12orf42,downstream_gene_variant,,ENST00000552578,;C12orf42,intron_variant,,ENST00000546526,;C12orf42,intron_variant,,ENST00000552977,;C12orf42,intron_variant,,ENST00000550650,;C12orf42,downstream_gene_variant,,ENST00000548789,;C12orf42,3_prime_UTR_variant,,ENST00000551134,;C12orf42,intron_variant,,ENST00000547347,;	T	ENST00000378113	Transcript	synonymous_variant	1222/1513	957/1083	319/360	S	tcC/tcA		1		-1	C12orf42	HGNC	HGNC:24729	protein_coding	YES	CCDS44963.1	ENSP00000367353	Q96LP6		UPI00001D7906	NM_001099336.2,NM_001278419.1			6/6		Pfam_domain:PF15380,hmmpanther:PTHR40708,hmmpanther:PTHR40708:SF1																	LOW	1	SNV	5			1										PASS		rs1304578351	.												T	2	4	2	103302234	103302234	G	T	1	0	0	0	0	0	0	0	1	1810	1335	47	2		2	C12orf42	12	103302234	Silent	SNP	G	11LU016_TP	458497	103302234	29973075	392	448											
STAB2	0	.	GRCh38	chr12	103713739	103713739	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgtgcacgtgcaaagcagGctacacgggtgatggcattg	10	8	15	8	2	0	1	0	1	0	0	0	1	0	1	0	3	4	5	0	3	2	2	rs560420677		11LU016_TP	11LU016_NB	G	G																c.4508G>C	p.Gly1503Ala	p.G1503A	ENST00000388887	42/69	210	187	23	155	155	0	strelka-varscan-mutect	STAB2,missense_variant,p.Gly1503Ala,ENST00000388887,NM_017564.9;STAB2,downstream_gene_variant,,ENST00000549798,;	C	ENST00000388887	Transcript	missense_variant	4712/8251	4508/7656	1503/2551	G/A	gGc/gCc	rs560420677	1		1	STAB2	HGNC	HGNC:18629	protein_coding	YES	CCDS31888.1	ENSP00000373539	Q8WWQ8		UPI00001ADDF4	NM_017564.9	deleterious(0)		42/69		PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,PROSITE_patterns:PS01186,Gene3D:2.40.155.10,Pfam_domain:PF12947,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		rs560420677	.												C	3	2	2	103713739	103713739	G	C	1	0	0	0	0	1	0	0	0	15616	1203	42	4		4	STAB2	12	103713739	Missense_Mutation	SNP	G	11LU016_TP	411505	103713739	29561570	393	449											
NOS1	0	.	GRCh38	chr12	117234711	117234711	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccaggctggtactgcAgctcctggctcccgttggtg	3	10	14	14	1	0	0	0	0	0	0	3	0	3	0	4	5	3	6	4	5	1	2	novel		11LU016_TP	11LU016_NB	A	A																c.3191T>C	p.Leu1064Pro	p.L1064P	ENST00000618760	22/30	130	103	27	93	93	0	strelka-varscan-mutect	NOS1,missense_variant,p.Leu1064Pro,ENST00000618760,NM_001204218.1;NOS1,missense_variant,p.Leu1030Pro,ENST00000317775,NM_001204214.1,NM_000620.4,NM_001204213.1;NOS1,missense_variant,p.Leu1064Pro,ENST00000338101,;NOS1,missense_variant,p.Leu1029Pro,ENST00000344089,;	G	ENST00000618760	Transcript	missense_variant	3902/12283	3191/4407	1064/1468	L/P	cTg/cCg		1		-1	NOS1	HGNC	HGNC:7872	protein_coding	YES	CCDS55890.1	ENSP00000477999	P29475		UPI00001FBC10	NM_001204218.1	deleterious(0.04)		22/30		PROSITE_profiles:PS51384,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63,Gene3D:1.20.990.10,Pfam_domain:PF00667,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF63380																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	2	117234711	117234711	A	G	1	0	0	0	0	1	0	0	0	10586	188	7	5		5	NOS1	12	117234711	Missense_Mutation	SNP	A	11LU016_TP	13520972	117234711	16040598	394	450											
DNAH10	0	.	GRCh38	chr12	123813283	123813283	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaaccctcagataattgaAcaagctgttatgatccccca	13	10	6	12	0	1	4	1	3	0	1	2	4	2	4	3	0	3	2	3	0	5	3	novel		11LU016_TP	11LU016_NB	A	A																c.2910A>G	p.=	p.E970E	ENST00000638045	19/78	185	173	12	206	206	0	strelka-varscan-mutect	DNAH10,synonymous_variant,p.=,ENST00000409039,;DNAH10,synonymous_variant,p.=,ENST00000638045,NM_207437.3;DNAH10,synonymous_variant,p.=,ENST00000614082,;DNAH10,non_coding_transcript_exon_variant,,ENST00000467219,;DNAH10,non_coding_transcript_exon_variant,,ENST00000447853,;	G	ENST00000638045	Transcript	synonymous_variant	2935/13678	2910/13416	970/4471	E	gaA/gaG		1		1	DNAH10	HGNC	HGNC:2941	protein_coding	YES	CCDS9255.2	ENSP00000489675			UPI00014F7B89	NM_207437.3			19/78		hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676																	LOW	1	SNV				1										PASS		.	.												G	2	3	2	123813283	123813283	A	G	1	0	0	0	0	0	0	0	1	4411	40	2	5		5	DNAH10	12	123813283	Silent	SNP	A	11LU016_TP	6578572	123813283	9462026	395	451											
TMEM132C	0	.	GRCh38	chr12	128415372	128415372	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgagcgaggggactgtgcCgggggtgacttcaggaaggg	9	5	20	7	3	1	1	1	1	0	0	1	5	1	3	1	6	3	0	1	6	2	1			11LU016_TP	11LU016_NB	C	C																c.726C>A	p.=	p.A242A	ENST00000435159	2/9	52	45	7	65	65	0	strelka-varscan-mutect	TMEM132C,synonymous_variant,p.=,ENST00000435159,NM_001136103.2;	A	ENST00000435159	Transcript	synonymous_variant	726/4947	726/3327	242/1108	A	gcC/gcA	COSM3384138	1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2			2/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4											1						LOW	1	SNV	5		1	1										PASS		rs1242678522	.												A	2	1	2	128415372	128415372	C	A	1	0	0	0	0	0	0	0	1	16491	639	23	1		1	TMEM132C	12	128415372	Silent	SNP	C	11LU016_TP	4602089	128415372	4859937	396	452											
TMEM132C	0	.	GRCh38	chr12	128669557	128669557	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacagacgaggacgttatCaaagtaagtcattccacagc	14	8	8	11	2	2	1	2	0	0	1	4	3	4	2	2	1	1	2	2	1	3	3	novel		11LU016_TP	11LU016_NB	C	C																c.1446C>G	p.Ile482Met	p.I482M	ENST00000435159	5/9	88	77	11	85	85	0	strelka-mutect	TMEM132C,missense_variant,p.Ile482Met,ENST00000435159,NM_001136103.2;	G	ENST00000435159	Transcript	missense_variant	1446/4947	1446/3327	482/1108	I/M	atC/atG		1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2	deleterious(0)		5/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4,Pfam_domain:PF16070																	MODERATE	1	SNV	5			1										PASS		rs1304277703	.												G	3	3	2	128669557	128669557	C	G	1	0	0	0	0	1	0	0	0	16491	840	29	4		4	TMEM132C	12	128669557	Missense_Mutation	SNP	C	11LU016_TP	254185	128669557	4605752	397	453											
PIWIL1	0	.	GRCh38	chr12	130355579	130355579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	taatgttcaaagggagcttcGagactggggtttgagctttg	9	13	14	5	1	1	2	1	1	0	1	2	4	1	3	0	3	2	4	0	3	2	5	rs552222799		11LU016_TP	11LU016_NB	G	G																c.1316G>C	p.Arg439Pro	p.R439P	ENST00000245255	12/21	207	186	21	229	229	0	strelka-varscan-mutect	PIWIL1,missense_variant,p.Arg439Pro,ENST00000245255,NM_004764.4,NM_001190971.1;RP11-200K12.3,upstream_gene_variant,,ENST00000624997,;	C	ENST00000245255	Transcript	missense_variant	1588/3897	1316/2586	439/861	R/P	cGa/cCa	rs552222799	1		1	PIWIL1	HGNC	HGNC:9007	protein_coding	YES	CCDS9268.1	ENSP00000245255	Q96J94	A0A024RBS5	UPI000007059F	NM_004764.4,NM_001190971.1	deleterious(0.02)		12/21		hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF46,Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1										PASS		rs552222799	.												C	3	2	2	130355579	130355579	G	C	1	0	0	0	0	1	0	0	0	12053	1058	37	4		4	PIWIL1	12	130355579	Missense_Mutation	SNP	G	11LU016_TP	1686022	130355579	2919730	398	454											
EP400	0	.	GRCh38	chr12	132043361	132043361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagtccgcacaggaggggGtgctgggaccacacactgat	11	5	15	10	1	0	2	0	1	0	1	1	4	1	4	2	4	1	2	2	4	1	0	novel		11LU016_TP	11LU016_NB	G	G																c.6265G>T	p.Val2089Leu	p.V2089L	ENST00000389562	32/52	165	144	21	186	186	0	strelka-varscan-mutect	EP400,missense_variant,p.Val2089Leu,ENST00000389562,;EP400,missense_variant,p.Val2089Leu,ENST00000389561,NM_015409.4;EP400,non_coding_transcript_exon_variant,,ENST00000611841,;	T	ENST00000389562	Transcript	missense_variant	6300/12836	6265/9372	2089/3123	V/L	Gtg/Ttg		1		1	EP400	HGNC	HGNC:11958	protein_coding	YES	CCDS31929.2	ENSP00000374213	Q96L91		UPI00004566BC		tolerated(0.26)		32/52																			MODERATE	1	SNV	1			1										PASS		rs916759408	.												T	3	4	2	132043361	132043361	G	T	1	0	0	0	0	1	0	0	0	4995	1261	44	2		2	EP400	12	132043361	Missense_Mutation	SNP	G	11LU016_TP	1687782	132043361	1231948	399	455											
PSPC1	0	.	GRCh38	chr13	19703194	19703194	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaatatctacgacgcttaTtagggccttcaaagttgccc	10	14	7	10	2	2	0	1	0	1	0	2	1	2	0	2	1	2	2	2	1	6	8	rs745410363		11LU016_TP	11LU016_NB	T	T																c.1553A>T	p.Asn518Ile	p.N518I	ENST00000338910	9/9	133	123	10	144	144	0	varscan-mutect	PSPC1,missense_variant,p.Asn518Ile,ENST00000338910,;PSPC1,missense_variant,p.Asn518Ile,ENST00000619300,NM_001042414.2;PSPC1,intron_variant,,ENST00000492741,;PSPC1,intron_variant,,ENST00000471658,;PSPC1,intron_variant,,ENST00000635562,;	A	ENST00000338910	Transcript	missense_variant	1713/2407	1553/1572	518/523	N/I	aAt/aTt	rs745410363	1		-1	PSPC1	HGNC	HGNC:20320	protein_coding	YES	CCDS41870.1	ENSP00000343966	Q8WXF1		UPI000006F2BE		deleterious(0)		9/9		hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF14																	MODERATE	1	SNV	1			1										PASS		rs745410363	.												A	3	1	2	19703194	19703194	T	A	1	0	0	0	0	1	0	0	0	12868	1493	52	4		4	PSPC1	13	19703194	Missense_Mutation	SNP	T	11LU016_TP		19703194	94661134	400	456											
GJB6	0	.	GRCh38	chr13	20223395	20223395	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatcatgactcggaaaataAagatgactgtgatccacacc	15	8	9	9	1	1	4	1	3	0	1	3	6	2	6	2	2	0	0	2	2	4	1	novel		11LU016_TP	11LU016_NB	A	A																c.86T>C	p.Phe29Ser	p.F29S	ENST00000356192	5/5	378	291	87	603	603	0	strelka-varscan-mutect	GJB6,missense_variant,p.Phe29Ser,ENST00000356192,NM_001110219.2;GJB6,missense_variant,p.Phe29Ser,ENST00000400066,NM_001110220.2;GJB6,missense_variant,p.Phe29Ser,ENST00000636852,;GJB6,missense_variant,p.Phe29Ser,ENST00000241124,NM_006783.4;GJB6,missense_variant,p.Phe29Ser,ENST00000400065,NM_001110221.2;	G	ENST00000356192	Transcript	missense_variant	707/2131	86/786	29/261	F/S	tTt/tCt		1		-1	GJB6	HGNC	HGNC:4288	protein_coding	YES	CCDS9291.1	ENSP00000348521	O95452	A0A024RDS4	UPI0000074737	NM_001110219.2	deleterious(0)		5/5		Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF23,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	2	20223395	20223395	A	G	1	0	0	0	0	1	0	0	0	6289	14	1	5		5	GJB6	13	20223395	Missense_Mutation	SNP	A	11LU016_TP	520201	20223395	94140933	401	457											
FRY	0	.	GRCh38	chr13	32175550	32175550	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccctttgtacaggatgAcgacaggccgatgattgatg	9	10	11	11	2	0	3	0	3	0	0	1	6	1	4	4	2	1	1	4	2	1	3	novel		11LU016_TP	11LU016_NB	A	A																c.2339A>T	p.Asp780Val	p.D780V	ENST00000542859	20/61	353	289	64	400	400	0	strelka-varscan-mutect	FRY,missense_variant,p.Asp780Val,ENST00000542859,NM_023037.2;FRY,missense_variant,p.Asp780Val,ENST00000380250,;	T	ENST00000542859	Transcript	missense_variant	2835/13200	2339/9042	780/3013	D/V	gAc/gTc		1		1	FRY	HGNC	HGNC:20367	protein_coding	YES	CCDS41875.1	ENSP00000445043	Q5TBA9		UPI000046FD40	NM_023037.2	deleterious(0.01)		20/61		hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	2	32175550	32175550	A	T	1	0	0	0	0	1	0	0	0	5935	289	10	4		4	FRY	13	32175550	Missense_Mutation	SNP	A	11LU016_TP	11952155	32175550	82188778	402	458											
SERTM1	0	.	GRCh38	chr13	36695091	36695091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccataaagatgtctgaacctGacacttcctcaggattttcg	11	12	7	11	1	2	3	1	2	1	1	4	4	3	4	3	1	1	0	3	1	3	4	novel		11LU016_TP	11LU016_NB	G	G																c.13G>A	p.Asp5Asn	p.D5N	ENST00000315190	2/2	67	53	14	125	124	1	strelka-varscan-mutect	SERTM1,missense_variant,p.Asp5Asn,ENST00000315190,NM_203451.2;	A	ENST00000315190	Transcript	missense_variant	459/3207	13/324	5/107	D/N	Gac/Aac		1		1	SERTM1	HGNC	HGNC:33792	protein_coding	YES	CCDS9358.1	ENSP00000325776	A2A2V5		UPI00000306E4	NM_203451.2	tolerated_low_confidence(0.65)		2/2		hmmpanther:PTHR35660:SF1,hmmpanther:PTHR35660,Pfam_domain:PF15872																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	36695091	36695091	G	A	1	0	0	0	0	1	0	0	0	14400	1290	45	3		3	SERTM1	13	36695091	Missense_Mutation	SNP	G	11LU016_TP	4519541	36695091	77669237	403	459											
POSTN	0	.	GRCh38	chr13	37563351	37563351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcactgagaacgaccttcCcttaatcgtcttctagatcc	9	14	5	13	2	3	2	1	1	2	2	6	4	5	2	3	0	1	0	3	0	3	5	novel		11LU016_TP	11LU016_NB	C	C																c.2493G>T	p.Arg831Ser	p.R831S	ENST00000379747	23/23	76	62	14	104	104	0	strelka-varscan-mutect	POSTN,missense_variant,p.Arg831Ser,ENST00000379747,NM_006475.2;POSTN,missense_variant,p.Arg776Ser,ENST00000541179,NM_001135936.1,NM_001135935.1;POSTN,missense_variant,p.Arg803Ser,ENST00000379749,;POSTN,missense_variant,p.Arg804Ser,ENST00000379743,NM_001286665.1;POSTN,missense_variant,p.Arg744Ser,ENST00000541481,NM_001286666.1,NM_001286667.1;POSTN,missense_variant,p.Arg774Ser,ENST00000379742,NM_001135934.1;POSTN,non_coding_transcript_exon_variant,,ENST00000478947,;POSTN,non_coding_transcript_exon_variant,,ENST00000473823,;POSTN,downstream_gene_variant,,ENST00000474646,;	A	ENST00000379747	Transcript	missense_variant	2611/3373	2493/2511	831/836	R/S	agG/agT		1		-1	POSTN	HGNC	HGNC:16953	protein_coding	YES	CCDS9364.1	ENSP00000369071	Q15063	A0A024RDS2	UPI000013CEB8	NM_006475.2	deleterious_low_confidence(0)		23/23		hmmpanther:PTHR10900,hmmpanther:PTHR10900:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	37563351	37563351	C	A	1	0	0	0	0	1	0	0	0	12373	622	22	2		2	POSTN	13	37563351	Missense_Mutation	SNP	C	11LU016_TP	868260	37563351	76800977	404	460											
RB1	0	.	GRCh38	chr13	48364892	48364892	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtaacttcatctttttcAggtgaaaaatgtttatttca	11	19	6	5	0	4	1	3	1	1	0	4	1	4	1	0	1	1	3	0	1	4	8	novel		11LU016_TP	11LU016_NB	A	A																c.862-2A>T		p.X288_splice	ENST00000267163		95	90	5	107	106	1	strelka-mutect	RB1,splice_acceptor_variant,,ENST00000267163,NM_000321.2;RB1,downstream_gene_variant,,ENST00000525036,;RB1,downstream_gene_variant,,ENST00000467505,;	T	ENST00000267163	Transcript	splice_acceptor_variant	-/4840	862/2787	288/928				1		1	RB1	HGNC	HGNC:9884	protein_coding	YES	CCDS31973.1	ENSP00000267163	P06400	A0A024RDV3	UPI0000001C79	NM_000321.2				8/26																		HIGH	1	SNV	1			1										PASS		rs1131690914	.												T	5	4	2	48364892	48364892	A	T	1	0	0	0	0	0	0	1	0	13259	202	7	4		4	RB1	13	48364892	Splice_Site	SNP	A	11LU016_TP	10801541	48364892	65999436	405	461											
RB1	0	.	GRCh38	chr13	48373476	48373476	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaaccttcagaaaatcTgatttcctattttaacgtaa	14	15	4	8	1	3	3	2	2	1	1	4	3	4	3	2	0	2	1	2	0	6	6			11LU016_TP	11LU016_NB	T	T																c.1199T>G	p.Leu400Arg	p.L400R	ENST00000267163	12/27	110	89	21	158	158	0	strelka-varscan-mutect	RB1,missense_variant,p.Leu400Arg,ENST00000267163,NM_000321.2;	G	ENST00000267163	Transcript	missense_variant	1337/4840	1199/2787	400/928	L/R	cTg/cGg	CD040609	1		1	RB1	HGNC	HGNC:9884	protein_coding	YES	CCDS31973.1	ENSP00000267163	P06400	A0A024RDV3	UPI0000001C79	NM_000321.2	deleterious(0)		12/27		Gene3D:1.10.472.10,Pfam_domain:PF01858,hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF21,SMART_domains:SM01368,Superfamily_domains:SSF47954																	MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	2	48373476	48373476	T	G	1	0	0	0	0	1	0	0	0	13259	1580	55	5		5	RB1	13	48373476	Missense_Mutation	SNP	T	11LU016_TP	8584	48373476	65990852	406	462											
PCDH8	0	.	GRCh38	chr13	52846690	52846690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgaggggagccgccgtCgctagcttggatgcgaacgt	8	7	16	10	5	0	1	0	1	0	0	1	4	0	3	2	3	5	3	2	3	3	2	novel		11LU016_TP	11LU016_NB	C	C																c.1747G>T	p.Asp583Tyr	p.D583Y	ENST00000377942	1/3	65	51	14	99	99	0	strelka-varscan-mutect	PCDH8,missense_variant,p.Asp583Tyr,ENST00000377942,NM_002590.3;PCDH8,missense_variant,p.Asp583Tyr,ENST00000338862,NM_032949.2;PCDH8,upstream_gene_variant,,ENST00000613548,;	A	ENST00000377942	Transcript	missense_variant	1951/5088	1747/3213	583/1070	D/Y	Gac/Tac		1		-1	PCDH8	HGNC	HGNC:8660	protein_coding	YES	CCDS9438.1	ENSP00000367177	O95206		UPI0000072D47	NM_002590.3	deleterious(0)		1/3		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF46,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	52846690	52846690	C	A	1	0	0	0	0	1	0	0	0	11604	884	31	1		1	PCDH8	13	52846690	Missense_Mutation	SNP	C	11LU016_TP	4473214	52846690	61517638	407	463											
DACH1	0	.	GRCh38	chr13	71866134	71866134	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaacaggtcgaaagcctgGggcaggcagatcagctcgca	12	4	15	10	2	1	1	1	0	0	1	3	3	1	2	1	5	3	4	1	5	2	0	novel		11LU016_TP	11LU016_NB	G	G																c.636C>A	p.=	p.P212P	ENST00000613252	1/11	103	81	22	123	123	0	strelka-varscan-mutect	DACH1,synonymous_variant,p.=,ENST00000613252,NM_080759.5;DACH1,synonymous_variant,p.=,ENST00000611519,NM_080760.5;DACH1,synonymous_variant,p.=,ENST00000620444,NM_004392.6;DACH1,synonymous_variant,p.=,ENST00000619232,;	T	ENST00000613252	Transcript	synonymous_variant	1059/5233	636/2121	212/706	P	ccC/ccA		1		-1	DACH1	HGNC	HGNC:2663	protein_coding	YES	CCDS41899.1	ENSP00000482245	Q9UI36		UPI000007308B	NM_080759.5			1/11		hmmpanther:PTHR12577:SF14,hmmpanther:PTHR12577,Pfam_domain:PF02437,Gene3D:3.10.260.20,Superfamily_domains:SSF46955																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	71866134	71866134	G	T	1	0	0	0	0	0	0	0	1	4021	1219	43	2		2	DACH1	13	71866134	Silent	SNP	G	11LU016_TP	19019444	71866134	42498194	408	464											
DACH1	0	.	GRCh38	chr13	71866224	71866224	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgcactcattattctgaggGgtgttttccactggggacgg	6	14	13	8	1	2	1	1	1	1	0	3	2	3	2	1	5	1	2	1	5	1	5	novel		11LU016_TP	11LU016_NB	G	G																c.546C>A	p.=	p.T182T	ENST00000613252	1/11	112	95	17	110	109	1	strelka-varscan-mutect	DACH1,synonymous_variant,p.=,ENST00000613252,NM_080759.5;DACH1,synonymous_variant,p.=,ENST00000611519,NM_080760.5;DACH1,synonymous_variant,p.=,ENST00000620444,NM_004392.6;DACH1,synonymous_variant,p.=,ENST00000619232,;	T	ENST00000613252	Transcript	synonymous_variant	969/5233	546/2121	182/706	T	acC/acA		1		-1	DACH1	HGNC	HGNC:2663	protein_coding	YES	CCDS41899.1	ENSP00000482245	Q9UI36		UPI000007308B	NM_080759.5			1/11		hmmpanther:PTHR12577:SF14,hmmpanther:PTHR12577,Pfam_domain:PF02437																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	71866224	71866224	G	T	1	0	0	0	0	0	0	0	1	4021	1219	43	2		2	DACH1	13	71866224	Silent	SNP	G	11LU016_TP	90	71866224	42498104	409	465											
MYCBP2	0	.	GRCh38	chr13	77150879	77150879	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggactgccaggaatccttTgaggtttctttgcttgatct	7	15	10	9	0	2	2	0	2	2	0	3	4	3	4	2	3	2	2	2	3	1	4	novel		11LU016_TP	11LU016_NB	T	T																c.6872A>T	p.Gln2291Leu	p.Q2291L	ENST00000544440	47/83	284	245	39	226	226	0	strelka-varscan-mutect	MYCBP2,missense_variant,p.Gln2291Leu,ENST00000357337,NM_015057.4;MYCBP2,missense_variant,p.Gln2291Leu,ENST00000544440,;MYCBP2,upstream_gene_variant,,ENST00000486679,;	A	ENST00000544440	Transcript	missense_variant	6890/14664	6872/13923	2291/4640	Q/L	cAa/cTa		1		-1	MYCBP2	HGNC	HGNC:23386	protein_coding	YES		ENSP00000444596	O75592		UPI0000212757		deleterious(0.02)		47/83		Pfam_domain:PF00630																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	77150879	77150879	T	A	1	0	0	0	0	1	0	0	0	10018	1812	63	4		4	MYCBP2	13	77150879	Missense_Mutation	SNP	T	11LU016_TP	5284655	77150879	37213449	410	466											
ZIC5	0	.	GRCh38	chr13	99971125	99971125	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccgctgctgccgccgccgCcactgttggtggtggtgtag	2	10	16	13	4	0	0	0	0	0	0	0	0	0	0	5	3	3	4	5	3	1	2	novel		11LU016_TP	11LU016_NB	C	C																c.551G>C	p.Gly184Ala	p.G184A	ENST00000267294	1/2	75	64	11	166	165	1	strelka-varscan-mutect	ZIC5,missense_variant,p.Gly184Ala,ENST00000267294,NM_033132.3;	G	ENST00000267294	Transcript	missense_variant	785/4639	551/1992	184/663	G/A	gGc/gCc		1		-1	ZIC5	HGNC	HGNC:20322	protein_coding	YES	CCDS9494.2	ENSP00000267294	Q96T25		UPI0000458928	NM_033132.3	tolerated_low_confidence(0.33)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR19818																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	99971125	99971125	C	G	1	0	0	0	0	1	0	0	0	18260	739	26	4		4	ZIC5	13	99971125	Missense_Mutation	SNP	C	11LU016_TP	22820246	99971125	14393203	411	467											
FGF14	0	.	GRCh38	chr13	101916492	101916492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgaggccgaagatgcGcactttggagaagatatcca	11	10	11	9	2	1	4	0	1	1	3	2	6	2	4	2	2	1	1	2	2	3	4			11LU016_TP	11LU016_NB	G	G																c.154C>A	p.Arg52Ser	p.R52S	ENST00000376143	1/5	423	341	82	477	477	0	strelka-varscan-mutect	FGF14,missense_variant,p.Arg52Ser,ENST00000376143,NM_004115.3;FGF14,intron_variant,,ENST00000376131,NM_175929.2;	T	ENST00000376143	Transcript	missense_variant	154/744	154/744	52/247	R/S	Cgc/Agc	COSM4045739	1		-1	FGF14	HGNC	HGNC:3671	protein_coding		CCDS9501.1	ENSP00000365313	Q92915		UPI000003C0F2	NM_004115.3	deleterious(0.05)		1/5		hmmpanther:PTHR11486:SF18,hmmpanther:PTHR11486											1						MODERATE		SNV	1		1	1										PASS		rs987890018	.												T	3	4	2	101916492	101916492	G	T	1	0	0	0	0	1	0	0	0	5707	1087	38	1		1	FGF14	13	101916492	Missense_Mutation	SNP	G	11LU016_TP	1945367	101916492	12447836	412	468											
POTEG	0	.	GRCh38	chr14	19428666	19428666	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggaatattcggatcagtgCcatgttccagcaacattaac	12	11	8	10	1	1	0	1	0	0	0	3	2	2	2	2	2	4	2	2	2	4	4	novel		11LU016_TP	11LU016_NB	C	C																c.686G>C	p.Gly229Ala	p.G229A	ENST00000547848	3/11	433	376	57	401	401	0	varscan-mutect	POTEG,missense_variant,p.Gly229Ala,ENST00000547848,NM_001005356.2;RP11-244H18.1,downstream_gene_variant,,ENST00000621705,;POTEG,missense_variant,p.Gly229Ala,ENST00000547722,;POTEG,missense_variant,p.Gly229Ala,ENST00000622767,;	G	ENST00000547848	Transcript	missense_variant	738/2204	686/1527	229/508	G/A	gGc/gCc		1		-1	POTEG	HGNC	HGNC:33896	protein_coding	YES	CCDS73610.1	ENSP00000450853	Q6S5H5		UPI00004443FE	NM_001005356.2	deleterious(0)		3/11		PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF43,hmmpanther:PTHR24118,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs1375240293	.												G	3	3	2	19428666	19428666	C	G	1	0	0	0	0	1	0	0	0	12380	739	26	4		4	POTEG	14	19428666	Missense_Mutation	SNP	C	11LU016_TP		19428666	87615052	413	469											
OR4K13	0	.	GRCh38	chr14	20033988	20033988	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctgaagggccagacgtaGataaagacacacggagcaaa	16	4	12	9	2	0	4	0	1	0	3	0	5	0	5	1	2	2	3	1	2	5	2	novel		11LU016_TP	11LU016_NB	G	G																c.771C>G	p.Ile257Met	p.I257M	ENST00000315693	1/1	258	237	21	198	198	0	strelka-mutect	OR4K13,missense_variant,p.Ile257Met,ENST00000315693,NM_001004714.1;	C	ENST00000315693	Transcript	missense_variant	773/917	771/915	257/304	I/M	atC/atG		1		-1	OR4K13	HGNC	HGNC:15351	protein_coding	YES	CCDS32028.1	ENSP00000319322	Q8NH42	A0A126GVS2	UPI0000041CEB	NM_001004714.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF123,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	2	20033988	20033988	G	C	1	0	0	0	0	1	0	0	0	11145	932	33	4		4	OR4K13	14	20033988	Missense_Mutation	SNP	G	11LU016_TP	605322	20033988	87009730	414	470											
RNASE13	0	.	GRCh38	chr14	21033978	21033978	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgatggggagggaatccTgggtgagtgtgcagtattca	8	10	17	6	1	1	2	1	2	0	0	2	4	2	4	2	4	1	2	2	4	2	2	novel		11LU016_TP	11LU016_NB	T	T																c.311A>T	p.Gln104Leu	p.Q104L	ENST00000382951	2/2	168	131	37	170	170	0	strelka-varscan-mutect	RNASE13,missense_variant,p.Gln104Leu,ENST00000382951,NM_001012264.3;NDRG2,intron_variant,,ENST00000403829,NM_001282211.1;NDRG2,intron_variant,,ENST00000555026,;TPPP2,intron_variant,,ENST00000472458,;TPPP2,intron_variant,,ENST00000555751,;TPPP2,intron_variant,,ENST00000481535,;TPPP2,downstream_gene_variant,,ENST00000321760,NM_173846.4;TPPP2,downstream_gene_variant,,ENST00000530140,;TPPP2,downstream_gene_variant,,ENST00000460647,;AL161668.5,downstream_gene_variant,,ENST00000533984,;AL161668.5,downstream_gene_variant,,ENST00000532213,;RP11-998D10.1,downstream_gene_variant,,ENST00000531638,;TPPP2,intron_variant,,ENST00000495665,;TPPP2,intron_variant,,ENST00000529496,;TPPP2,downstream_gene_variant,,ENST00000534434,;TPPP2,downstream_gene_variant,,ENST00000533755,;TPPP2,downstream_gene_variant,,ENST00000525425,;TPPP2,downstream_gene_variant,,ENST00000532060,;	A	ENST00000382951	Transcript	missense_variant	449/1607	311/471	104/156	Q/L	cAg/cTg		1		-1	RNASE13	HGNC	HGNC:25285	protein_coding	YES	CCDS32039.1	ENSP00000372410	Q5GAN3	V9HW52	UPI00001FCFB5	NM_001012264.3	deleterious(0.03)		2/2		Gene3D:3.10.130.10,PD000535,Pfam_domain:PF00074,hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF11,Superfamily_domains:SSF54076																	MODERATE	1	SNV	1			1										PASS		rs1213871966	.												A	3	1	2	21033978	21033978	T	A	1	0	0	0	0	1	0	0	0	13582	1580	55	4		4	RNASE13	14	21033978	Missense_Mutation	SNP	T	11LU016_TP	999990	21033978	86009740	415	471											
CIDEB	0	.	GRCh38	chr14	24306397	24306397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggctccagctctgacCagactgcaacaccatcaggc	10	7	10	14	0	2	2	1	1	1	1	3	2	3	2	3	2	3	4	3	2	2	1	rs773821735		11LU016_TP	11LU016_NB	C	C																c.313G>T	p.Gly105Cys	p.G105C	ENST00000336557	6/8	191	150	41	175	174	1	strelka-varscan-mutect	CIDEB,missense_variant,p.Gly105Cys,ENST00000336557,NM_001318807.1;CIDEB,missense_variant,p.Gly105Cys,ENST00000258807,NM_014430.2;CIDEB,missense_variant,p.Gly105Cys,ENST00000554411,;CIDEB,missense_variant,p.Gly23Cys,ENST00000556756,;NOP9,3_prime_UTR_variant,,ENST00000267425,NM_174913.2;LTB4R2,intron_variant,,ENST00000527924,;NOP9,intron_variant,,ENST00000557362,;LTB4R2,upstream_gene_variant,,ENST00000528054,;NOP9,downstream_gene_variant,,ENST00000396802,NM_001286367.1;LTB4R2,upstream_gene_variant,,ENST00000543919,NM_001164692.2,NM_019839.4;LTB4R2,upstream_gene_variant,,ENST00000533293,;LTB4R2,upstream_gene_variant,,ENST00000530080,;CIDEB,downstream_gene_variant,,ENST00000555817,;CIDEB,downstream_gene_variant,,ENST00000555471,;	A	ENST00000336557	Transcript	missense_variant	1616/2409	313/660	105/219	G/C	Ggt/Tgt	rs773821735	1		-1	CIDEB	HGNC	HGNC:1977	protein_coding	YES	CCDS32056.1	ENSP00000337731	Q9UHD4		UPI0000001BDD	NM_001318807.1	deleterious(0.04)		6/8		PROSITE_profiles:PS51135,hmmpanther:PTHR12306:SF10,hmmpanther:PTHR12306,Pfam_domain:PF02017,Gene3D:3.10.20.10,SMART_domains:SM00266,Superfamily_domains:SSF54277																	MODERATE		SNV	2			1										PASS		rs773821735	.												A	3	1	2	24306397	24306397	C	A	1	0	0	0	0	1	0	0	0	3188	594	21	2		2	CIDEB	14	24306397	Missense_Mutation	SNP	C	11LU016_TP	3272419	24306397	82737321	416	472											
NYNRIN	0	.	GRCh38	chr14	24409939	24409939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctagtgtctccttactgaaGggccaggggcaggctggaag	8	8	16	9	0	1	1	0	1	1	0	2	2	1	2	2	5	1	3	2	5	4	2	novel		11LU016_TP	11LU016_NB	G	G																c.2145G>T	p.Lys715Asn	p.K715N	ENST00000382554	4/9	210	195	15	257	256	1	strelka-varscan-mutect	NYNRIN,missense_variant,p.Lys715Asn,ENST00000382554,NM_025081.2;NYNRIN,upstream_gene_variant,,ENST00000554505,;	T	ENST00000382554	Transcript	missense_variant	2463/7857	2145/5697	715/1898	K/N	aaG/aaT		1		1	NYNRIN	HGNC	HGNC:20165	protein_coding	YES	CCDS45090.1	ENSP00000371994	Q9P2P1		UPI0000251E63	NM_025081.2	deleterious_low_confidence(0)		4/9		hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	2	24409939	24409939	G	T	1	0	0	0	0	1	0	0	0	10874	991	35	2		2	NYNRIN	14	24409939	Missense_Mutation	SNP	G	11LU016_TP	103542	24409939	82633779	417	473											
HEATR5A	0	.	GRCh38	chr14	31387131	31387131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatccatacccataactttcTttagcttccagatggcctgg	9	13	7	12	0	1	1	0	0	1	1	3	2	3	1	4	2	3	1	4	2	3	6	novel		11LU016_TP	11LU016_NB	T	T																c.1178A>G	p.Lys393Arg	p.K393R	ENST00000543095	8/36	155	111	44	125	125	0	strelka-varscan-mutect	HEATR5A,missense_variant,p.Lys393Arg,ENST00000543095,NM_015473.3;HEATR5A,missense_variant,p.Lys21Arg,ENST00000538864,;HEATR5A,missense_variant,p.Lys52Arg,ENST00000550366,;RP11-176H8.1,3_prime_UTR_variant,,ENST00000549185,;	C	ENST00000543095	Transcript	missense_variant	1363/7840	1178/6141	393/2046	K/R	aAg/aGg		1		-1	HEATR5A	HGNC	HGNC:20276	protein_coding	YES		ENSP00000437968		F5H619	UPI0001890E04	NM_015473.3	tolerated(0.26)		8/36		hmmpanther:PTHR21663,hmmpanther:PTHR21663:SF1,Gene3D:1.25.10.10																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	2	31387131	31387131	T	C	1	0	0	0	0	1	0	0	0	6913	1609	56	5		5	HEATR5A	14	31387131	Missense_Mutation	SNP	T	11LU016_TP	6977192	31387131	75656587	418	474											
NPAS3	0	.	GRCh38	chr14	33799898	33799898	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccgcgacagcgacgacAgcttcgagcactcggacttt	10	6	11	14	6	0	0	0	0	0	0	2	5	0	1	1	1	4	2	1	1	0	2	novel		11LU016_TP	11LU016_NB	A	A																c.1591A>T	p.Ser531Cys	p.S531C	ENST00000356141	12/12	365	283	82	512	511	1	strelka-varscan-mutect	NPAS3,missense_variant,p.Ser499Cys,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Ser501Cys,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Ser536Cys,ENST00000551492,;NPAS3,missense_variant,p.Ser531Cys,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Ser518Cys,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Ser505Cys,ENST00000551634,;	T	ENST00000356141	Transcript	missense_variant	1591/2802	1591/2802	531/933	S/C	Agc/Tgc		1		1	NPAS3	HGNC	HGNC:19311	protein_coding	YES	CCDS53891.1	ENSP00000348460	Q8IXF0	X5D2Q4	UPI00000743C2	NM_001164749.1	deleterious(0.03)		12/12		Low_complexity_(Seg):seg,hmmpanther:PTHR23043:SF30,hmmpanther:PTHR23043																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	33799898	33799898	A	T	1	0	0	0	0	1	0	0	0	10612	188	7	4		4	NPAS3	14	33799898	Missense_Mutation	SNP	A	11LU016_TP	2412767	33799898	73243820	419	475											
GEMIN2	0	.	GRCh38	chr14	39136454	39136454	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactaggtattttgaccaacGtgatttagctgatgagccat	11	14	9	7	1	0	4	0	4	0	0	0	4	0	4	2	1	4	2	2	1	5	7	rs751872461		11LU016_TP	11LU016_NB	G	G																c.818G>C	p.Arg273Pro	p.R273P	ENST00000308317	10/10	197	160	37	175	175	0	strelka-varscan-mutect	GEMIN2,missense_variant,p.Arg273Pro,ENST00000308317,NM_003616.2;GEMIN2,missense_variant,p.Arg258Pro,ENST00000250379,NM_001009182.1;GEMIN2,3_prime_UTR_variant,,ENST00000396249,NM_001009183.1;GEMIN2,downstream_gene_variant,,ENST00000534684,;GEMIN2,downstream_gene_variant,,ENST00000524781,;GEMIN2,3_prime_UTR_variant,,ENST00000525153,;GEMIN2,3_prime_UTR_variant,,ENST00000412033,;GEMIN2,non_coding_transcript_exon_variant,,ENST00000524980,;GEMIN2,downstream_gene_variant,,ENST00000531684,;GEMIN2,downstream_gene_variant,,ENST00000529365,;	C	ENST00000308317	Transcript	missense_variant	901/1420	818/843	273/280	R/P	cGt/cCt	rs751872461	1		1	GEMIN2	HGNC	HGNC:10884	protein_coding	YES	CCDS9669.1	ENSP00000308533	O14893		UPI000012B3B7	NM_003616.2	tolerated(0.2)		10/10		PIRSF_domain:PIRSF038038,hmmpanther:PTHR12794																	MODERATE	1	SNV	1			1										PASS		rs751872461	.												C	3	2	2	39136454	39136454	G	C	1	0	0	0	0	1	0	0	0	6203	1145	40	4		4	GEMIN2	14	39136454	Missense_Mutation	SNP	G	11LU016_TP	5336556	39136454	67907264	420	476											
FSCB	0	.	GRCh38	chr14	44506453	44506453	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttatgtttcagggcatcttCctttgactttgtagaagaac	9	17	8	7	0	2	3	1	1	1	2	3	3	3	3	1	1	1	3	1	1	4	7			11LU016_TP	11LU016_NB	C	C																c.535G>T	p.Glu179Ter	p.E179*	ENST00000340446	1/1	158	132	26	174	174	0	strelka-varscan-mutect	FSCB,stop_gained,p.Glu179Ter,ENST00000340446,NM_032135.3;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	A	ENST00000340446	Transcript	stop_gained	827/2938	535/2478	179/825	E/*	Gaa/Taa	COSM3886066	1		-1	FSCB	HGNC	HGNC:20494	protein_coding	YES	CCDS9679.1	ENSP00000344579	Q5H9T9		UPI00001FD466	NM_032135.3			1/1		hmmpanther:PTHR36135											1						HIGH		SNV			1	1										PASS		rs1436177188	.												A	4	1	2	44506453	44506453	C	A	1	0	0	0	0	0	1	0	0	5939	864	30	2		2	FSCB	14	44506453	Nonsense_Mutation	SNP	C	11LU016_TP	5369999	44506453	62537265	421	477											
MDGA2	0	.	GRCh38	chr14	46874062	46874062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccttctttggagccactaCggtcagcattaggtcctgta	8	13	9	11	1	2	0	1	0	1	0	3	1	3	1	3	3	4	2	3	3	4	6	rs202047105		11LU016_TP	11LU016_NB	C	C																c.2369G>T	p.Arg790Leu	p.R790L	ENST00000399232	13/17	80	67	13	135	135	0	strelka-mutect	MDGA2,missense_variant,p.Arg660Leu,ENST00000426342,;MDGA2,missense_variant,p.Arg790Leu,ENST00000399232,NM_001113498.2;MDGA2,missense_variant,p.Arg561Leu,ENST00000357362,NM_182830.4;MDGA2,3_prime_UTR_variant,,ENST00000557238,;MDGA2,non_coding_transcript_exon_variant,,ENST00000555521,;MDGA2,non_coding_transcript_exon_variant,,ENST00000557516,;	A	ENST00000399232	Transcript	missense_variant	2734/5075	2369/2871	790/956	R/L	cGt/cTt	rs202047105,COSM5443980,COSM5443981,COSM5443982	1		-1	MDGA2	HGNC	HGNC:19835	protein_coding	YES	CCDS45098.3	ENSP00000382178	Q7Z553		UPI00001C14FF	NM_001113498.2	tolerated(0.16)		13/17		Pfam_domain:PF00629,PROSITE_profiles:PS50060,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF62,SMART_domains:SM00137,Superfamily_domains:SSF49899											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs202047105	.												A	3	1	2	46874062	46874062	C	A	1	0	0	0	0	1	0	0	0	9345	536	19	1		1	MDGA2	14	46874062	Missense_Mutation	SNP	C	11LU016_TP	2367609	46874062	60169656	422	478											
PTGDR	0	.	GRCh38	chr14	52268339	52268339	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggcttcgggaagttcgtGcagtactgccccggcacctg	6	9	14	12	3	0	0	0	0	0	0	2	1	0	1	3	3	3	5	3	3	2	3	novel		11LU016_TP	11LU016_NB	G	G																c.525G>T	p.=	p.V175V	ENST00000306051	1/2	440	329	111	348	347	1	strelka-varscan-mutect	PTGDR,synonymous_variant,p.=,ENST00000306051,NM_000953.2;PTGDR,synonymous_variant,p.=,ENST00000553372,NM_001281469.1;	T	ENST00000306051	Transcript	synonymous_variant	627/2942	525/1080	175/359	V	gtG/gtT		1		1	PTGDR	HGNC	HGNC:9591	protein_coding	YES	CCDS9707.1	ENSP00000303424	Q13258		UPI000000D994	NM_000953.2			1/2		PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF14,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01788																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	52268339	52268339	G	T	1	0	0	0	0	0	0	0	1	12894	1306	46	2		2	PTGDR	14	52268339	Silent	SNP	G	11LU016_TP	5394277	52268339	54775379	423	479											
SYNE2	0	.	GRCh38	chr14	64016487	64016487	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacagattgaaattgtcaaAgaagaatttaatgagcattt	17	14	7	3	0	1	5	1	2	0	3	1	5	1	5	0	0	2	1	0	0	6	6	novel		11LU016_TP	11LU016_NB	A	A																c.4743A>T	p.Lys1581Asn	p.K1581N	ENST00000358025	33/116	130	97	33	123	123	0	strelka-varscan-mutect	SYNE2,missense_variant,p.Lys1581Asn,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Lys1581Asn,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Lys1581Asn,ENST00000357395,;SYNE2,missense_variant,p.Lys1581Asn,ENST00000554584,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557005,;	T	ENST00000358025	Transcript	missense_variant	4955/21842	4743/20724	1581/6907	K/N	aaA/aaT		1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2	deleterious(0)		33/116		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF317,hmmpanther:PTHR11915																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	2	64016487	64016487	A	T	1	0	0	0	0	1	0	0	0	15838	69	3	4		4	SYNE2	14	64016487	Missense_Mutation	SNP	A	11LU016_TP	11748148	64016487	43027231	424	480											
PLEKHG3	0	.	GRCh38	chr14	64741119	64741119	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaggagacgccttcagaCacagaatctccagaagtcct	12	6	10	13	2	2	4	1	0	1	4	4	6	3	4	4	1	0	0	4	1	2	1	novel		11LU016_TP	11LU016_NB	C	C																c.1602C>G	p.Asp534Glu	p.D534E	ENST00000247226	16/17	129	113	16	153	153	0	strelka-varscan-mutect	PLEKHG3,missense_variant,p.Asp534Glu,ENST00000247226,NM_001308147.1;PLEKHG3,missense_variant,p.Asp478Glu,ENST00000394691,NM_015549.1;PLEKHG3,missense_variant,p.Asp67Glu,ENST00000471182,;PLEKHG3,missense_variant,p.Asp39Glu,ENST00000484731,;PLEKHG3,missense_variant,p.Asp478Glu,ENST00000634379,;PLEKHG3,upstream_gene_variant,,ENST00000492928,;PLEKHG3,non_coding_transcript_exon_variant,,ENST00000490180,;	G	ENST00000247226	Transcript	missense_variant	1749/10351	1602/3660	534/1219	D/E	gaC/gaG		1		1	PLEKHG3	HGNC	HGNC:20364	protein_coding	YES	CCDS76690.1	ENSP00000247226	A1L390		UPI0000ECF248	NM_001308147.1	tolerated(0.18)		16/17																			MODERATE	1	SNV	1			1										PASS		rs1359668357	.												G	3	3	2	64741119	64741119	C	G	1	0	0	0	0	1	0	0	0	12163	477	17	4		4	PLEKHG3	14	64741119	Missense_Mutation	SNP	C	11LU016_TP	724632	64741119	42302599	425	481											
EXD2	0	.	GRCh38	chr14	69230547	69230547	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aactttccccttgacaagtcCcttctacttcgttgcagcaa	9	13	5	14	1	1	1	0	1	1	0	4	1	3	1	3	0	4	3	3	0	4	6	novel		11LU016_TP	11LU016_NB	C	C																c.666C>T	p.=	p.S222S	ENST00000312994	4/9	153	128	25	103	103	0	strelka-varscan-mutect	EXD2,synonymous_variant,p.=,ENST00000312994,NM_001193362.1,NM_001193363.1;EXD2,synonymous_variant,p.=,ENST00000409014,;EXD2,synonymous_variant,p.=,ENST00000409018,NM_001193361.1,NM_001193360.1;EXD2,synonymous_variant,p.=,ENST00000409675,NM_018199.3;EXD2,synonymous_variant,p.=,ENST00000409949,;EXD2,synonymous_variant,p.=,ENST00000409242,;EXD2,synonymous_variant,p.=,ENST00000413191,;EXD2,non_coding_transcript_exon_variant,,ENST00000492815,;EXD2,non_coding_transcript_exon_variant,,ENST00000489133,;EXD2,non_coding_transcript_exon_variant,,ENST00000494629,;	T	ENST00000312994	Transcript	synonymous_variant	987/5107	666/1866	222/621	S	tcC/tcT		1		1	EXD2	HGNC	HGNC:20217	protein_coding	YES	CCDS53902.1	ENSP00000313140	Q9NVH0		UPI0000577ED7	NM_001193362.1,NM_001193363.1			4/9		Gene3D:3.30.420.10,Pfam_domain:PF01612,hmmpanther:PTHR13620,hmmpanther:PTHR13620:SF0,SMART_domains:SM00474,Superfamily_domains:SSF53098																	LOW	1	SNV	2			1										PASS		rs1020148139	.												T	2	4	2	69230547	69230547	C	T	1	0	0	0	0	0	0	0	1	5165	610	22	3		3	EXD2	14	69230547	Silent	SNP	C	11LU016_TP	4489428	69230547	37813171	426	482											
YLPM1	0	.	GRCh38	chr14	74797912	74797912	+	Missense_Mutation	SNP	A	A	C																															attagcagacaccagtagtaAccagcagaagaattttaaaa																								novel		11LU016_TP	11LU016_NB	A	A																c.2615A>C	p.Asn872Thr	p.N872T	ENST00000325680	5/21	338	290	48	297	297	0	strelka-varscan-mutect	YLPM1,missense_variant,p.Asn872Thr,ENST00000325680,NM_019589.2;YLPM1,intron_variant,,ENST00000552421,;YLPM1,missense_variant,p.Asn425Thr,ENST00000549293,;	C	ENST00000325680	Transcript	missense_variant	2739/7108	2615/6441	872/2146	N/T	aAc/aCc		1		1	YLPM1	HGNC	HGNC:17798	protein_coding	YES	CCDS45135.1	ENSP00000324463	P49750		UPI00006C1433	NM_019589.2	deleterious_low_confidence(0)		5/21		hmmpanther:PTHR13413,hmmpanther:PTHR13413:SF0																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	2	74797912	74797912	A	C	1	0	0	0	0	1	0	0	0	18048	43	2	5		5	YLPM1	14	74797912	Missense_Mutation	SNP	A	11LU016_TP	5567365	74797912	32245806	427	483	12	2									
YLPM1	0	.	GRCh38	chr14	74797915	74797915	+	Missense_Mutation	SNP	A	A	G																															agcagacaccagtagtaaccAgcagaagaattttaaaatgc																								novel		11LU016_TP	11LU016_NB	A	A																c.2618A>G	p.Gln873Arg	p.Q873R	ENST00000325680	5/21	333	287	46	286	286	0	strelka-varscan-mutect	YLPM1,missense_variant,p.Gln873Arg,ENST00000325680,NM_019589.2;YLPM1,intron_variant,,ENST00000552421,;YLPM1,missense_variant,p.Gln426Arg,ENST00000549293,;	G	ENST00000325680	Transcript	missense_variant	2742/7108	2618/6441	873/2146	Q/R	cAg/cGg		1		1	YLPM1	HGNC	HGNC:17798	protein_coding	YES	CCDS45135.1	ENSP00000324463	P49750		UPI00006C1433	NM_019589.2	deleterious_low_confidence(0.03)		5/21		hmmpanther:PTHR13413,hmmpanther:PTHR13413:SF0																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	2	74797915	74797915	A	G	1	0	0	0	0	1	0	0	0	18048	188	7	5		5	YLPM1	14	74797915	Missense_Mutation	SNP	A	11LU016_TP	3	74797915	32245803	428	484	12	2									
CEP128	0	.	GRCh38	chr14	80743262	80743262	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcacagagccactgaagTttagtctaaaaaataacatt	16	11	5	9	0	2	2	1	1	1	1	3	2	3	2	2	0	2	1	2	0	6	5	novel		11LU016_TP	11LU016_NB	T	T																c.2619A>G	p.=	p.K873K	ENST00000555265	19/25	242	178	64	212	212	0	strelka-varscan-mutect	CEP128,synonymous_variant,p.=,ENST00000555265,;CEP128,synonymous_variant,p.=,ENST00000281129,NM_152446.3;CEP128,synonymous_variant,p.=,ENST00000554728,;CEP128,synonymous_variant,p.=,ENST00000554502,;	C	ENST00000555265	Transcript	synonymous_variant	2995/4662	2619/3285	873/1094	K	aaA/aaG		1		-1	CEP128	HGNC	HGNC:20359	protein_coding	YES	CCDS32130.1	ENSP00000451162	Q6ZU80		UPI000022982E				19/25		hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF205																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	2	80743262	80743262	T	C	1	0	0	0	0	0	0	0	1	2958	1739	60	5		5	CEP128	14	80743262	Silent	SNP	T	11LU016_TP	5945347	80743262	26300456	429	485											
TTC7B	0	.	GRCh38	chr14	90644100	90644100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgatgatgttcagagcgtCatggtaatgcttctgtgctg	7	14	13	7	2	3	2	2	1	1	1	4	3	3	2	0	1	3	4	0	1	1	3	novel		11LU016_TP	11LU016_NB	C	C																c.1699G>T	p.Asp567Tyr	p.D567Y	ENST00000328459	15/20	237	180	57	250	250	0	strelka-varscan-mutect	TTC7B,missense_variant,p.Asp567Tyr,ENST00000328459,NM_001010854.1;TTC7B,missense_variant,p.Asp37Tyr,ENST00000553972,;RP11-1078H9.5,intron_variant,,ENST00000557007,;RP11-1078H9.5,intron_variant,,ENST00000553826,;TTC7B,non_coding_transcript_exon_variant,,ENST00000554654,;TTC7B,non_coding_transcript_exon_variant,,ENST00000556490,;TTC7B,missense_variant,p.Asp308Tyr,ENST00000555005,;TTC7B,3_prime_UTR_variant,,ENST00000555239,;TTC7B,downstream_gene_variant,,ENST00000556749,;	A	ENST00000328459	Transcript	missense_variant	1821/19458	1699/2532	567/843	D/Y	Gac/Tac		1		-1	TTC7B	HGNC	HGNC:19858	protein_coding	YES	CCDS32140.1	ENSP00000336127	Q86TV6		UPI00001FD9F0	NM_001010854.1	deleterious(0.03)		15/20		Gene3D:1.25.40.10,Pfam_domain:PF12895,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF365,SMART_domains:SM00028,Superfamily_domains:SSF48452																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	2	90644100	90644100	C	A	1	0	0	0	0	1	0	0	0	17223	826	29	2		2	TTC7B	14	90644100	Missense_Mutation	SNP	C	11LU016_TP	9900838	90644100	16399618	430	486											
UNC79	0	.	GRCh38	chr14	93630880	93630880	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgttagatgcaggtgtgccGgaaacaagtagccattcctc	11	9	11	10	2	0	1	0	0	0	1	2	2	1	2	3	2	4	3	3	2	4	3	rs778028999		11LU016_TP	11LU016_NB	G	G																c.5157G>C	p.=	p.P1719P	ENST00000256339	31/50	239	219	20	223	223	0	strelka-varscan-mutect	UNC79,synonymous_variant,p.=,ENST00000553484,;UNC79,synonymous_variant,p.=,ENST00000555664,;UNC79,synonymous_variant,p.=,ENST00000256339,NM_020818.3;UNC79,synonymous_variant,p.=,ENST00000393151,;UNC79,synonymous_variant,p.=,ENST00000621021,;	C	ENST00000256339	Transcript	synonymous_variant	5812/8400	5157/7377	1719/2458	P	ccG/ccC	rs778028999,COSM3386745,COSM3386746	1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3			31/50		hmmpanther:PTHR21696:SF2,hmmpanther:PTHR21696											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs778028999	.												C	2	2	2	93630880	93630880	G	C	1	0	0	0	0	0	0	0	1	17520	1103	39	4		4	UNC79	14	93630880	Silent	SNP	G	11LU016_TP	2986780	93630880	13412838	431	487											
IFI27L1	0	.	GRCh38	chr14	94101833	94101833	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtggctgtggggactgtGctcgtggcgctcagtgccat	3	12	17	9	2	1	0	1	0	0	0	2	1	1	1	1	4	2	4	1	4	0	1	novel		11LU016_TP	11LU016_NB	G	G																c.81G>T	p.=	p.V27V	ENST00000555523	4/5	196	154	42	162	162	0	strelka-varscan-mutect	IFI27L1,missense_variant,p.Ala50Ser,ENST00000553664,;IFI27L1,synonymous_variant,p.=,ENST00000556381,;IFI27L1,synonymous_variant,p.=,ENST00000555523,NM_206949.2;IFI27L1,synonymous_variant,p.=,ENST00000393115,NM_145249.2;IFI27L1,synonymous_variant,p.=,ENST00000555341,;IFI27L1,synonymous_variant,p.=,ENST00000554166,;IFI27L1,synonymous_variant,p.=,ENST00000554562,;IFI27L1,intron_variant,,ENST00000557066,;IFI27L1,intron_variant,,ENST00000557218,;IFI27L1,intron_variant,,ENST00000554544,;IFI27,upstream_gene_variant,,ENST00000614204,;IFI27L1,intron_variant,,ENST00000553350,;IFI27L1,downstream_gene_variant,,ENST00000557600,;	T	ENST00000555523	Transcript	synonymous_variant	300/680	81/315	27/104	V	gtG/gtT		1		1	IFI27L1	HGNC	HGNC:19754	protein_coding	YES	CCDS9919.1	ENSP00000451851	Q96BM0		UPI000012A3C8	NM_206949.2			4/5		Pfam_domain:PF06140,hmmpanther:PTHR16932,hmmpanther:PTHR16932:SF22,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	2	94101833	94101833	G	T	1	0	0	0	0	0	0	0	1	7414	1319	46	2		2	IFI27L1	14	94101833	Silent	SNP	G	11LU016_TP	470953	94101833	12941885	432	488											
SERPINA4	0	.	GRCh38	chr14	94568206	94568206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtattagatcagattttgcCcaggctgggcttcacggatc	8	13	11	9	1	2	2	2	0	0	2	3	3	2	3	1	3	1	3	1	3	2	5	rs765511128		11LU016_TP	11LU016_NB	C	C																c.1001C>A	p.Pro334His	p.P334H	ENST00000557004	4/5	292	227	65	303	303	0	strelka-varscan-mutect	SERPINA4,missense_variant,p.Pro334His,ENST00000557004,NM_006215.3;SERPINA4,missense_variant,p.Pro334His,ENST00000555095,NM_001289032.1;SERPINA4,missense_variant,p.Pro334His,ENST00000298841,NM_001289033.1;SERPINA5,intron_variant,,ENST00000553780,;SERPINA5,intron_variant,,ENST00000554220,;	A	ENST00000557004	Transcript	missense_variant	1422/2012	1001/1284	334/427	P/H	cCc/cAc	rs765511128	1		1	SERPINA4	HGNC	HGNC:8948	protein_coding	YES	CCDS9927.1	ENSP00000450838	P29622	A0A024R6I9	UPI000000CBEF	NM_006215.3	deleterious(0.01)		4/5		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF194,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		rs765511128	.												A	3	1	2	94568206	94568206	C	A	1	0	0	0	0	1	0	0	0	14367	623	22	2		2	SERPINA4	14	94568206	Missense_Mutation	SNP	C	11LU016_TP	466373	94568206	12475512	433	489											
SERPINA5	0	.	GRCh38	chr14	94592060	94592060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgtctcccctgcagatgGtgcacaaagctgtggtggag	7	10	15	9	0	1	1	0	0	1	1	2	2	1	2	2	4	3	3	2	4	1	0	novel		11LU016_TP	11LU016_NB	G	G																c.1042G>T	p.Val348Leu	p.V348L	ENST00000329597	6/6	82	75	7	78	78	0	strelka-varscan-mutect	SERPINA5,missense_variant,p.Val348Leu,ENST00000329597,NM_000624.5;SERPINA5,missense_variant,p.Val348Leu,ENST00000554866,;SERPINA5,missense_variant,p.Val348Leu,ENST00000554276,;SERPINA5,missense_variant,p.Val348Leu,ENST00000553780,;SERPINA5,downstream_gene_variant,,ENST00000554760,;SERPINA5,downstream_gene_variant,,ENST00000556775,;SERPINA5,downstream_gene_variant,,ENST00000555681,;SERPINA5,downstream_gene_variant,,ENST00000557598,;SERPINA5,downstream_gene_variant,,ENST00000554220,;SERPINA5,downstream_gene_variant,,ENST00000553511,;SERPINA5,downstream_gene_variant,,ENST00000554633,;SERPINA5,downstream_gene_variant,,ENST00000556064,;SERPINA3,missense_variant,p.Val2Leu,ENST00000553947,;SERPINA5,downstream_gene_variant,,ENST00000556730,;	T	ENST00000329597	Transcript	missense_variant	1277/2337	1042/1221	348/406	V/L	Gtg/Ttg		1		1	SERPINA5	HGNC	HGNC:8723	protein_coding	YES	CCDS9928.1	ENSP00000333203	P05154	A0A024R6N9	UPI000013E52C	NM_000624.5	tolerated(0.13)		6/6		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF176,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	94592060	94592060	G	T	1	0	0	0	0	1	0	0	0	14368	1275	44	2		2	SERPINA5	14	94592060	Missense_Mutation	SNP	G	11LU016_TP	23854	94592060	12451658	434	490											
GSC	0	.	GRCh38	chr14	94769209	94769209	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagcaccgaaccggggcCctcgtagcctgcgacagagt	9	4	12	16	4	0	1	0	0	0	1	1	3	0	1	5	2	4	2	5	2	2	1	novel		11LU016_TP	11LU016_NB	C	C																c.364G>T	p.Gly122Cys	p.G122C	ENST00000238558	2/3	128	111	17	119	119	0	strelka-mutect	GSC,missense_variant,p.Gly122Cys,ENST00000238558,NM_173849.2;	A	ENST00000238558	Transcript	missense_variant	579/1264	364/774	122/257	G/C	Ggc/Tgc		1		-1	GSC	HGNC	HGNC:4612	protein_coding	YES	CCDS9930.1	ENSP00000238558	P56915		UPI000000D86A	NM_173849.2	deleterious(0.02)		2/3		hmmpanther:PTHR24329:SF275,hmmpanther:PTHR24329																	MODERATE	1	SNV	1			1										PASS		rs1317804947	.												A	3	1	2	94769209	94769209	C	A	1	0	0	0	0	1	0	0	0	6696	623	22	2		2	GSC	14	94769209	Missense_Mutation	SNP	C	11LU016_TP	177149	94769209	12274509	435	491											
ATG2B	0	.	GRCh38	chr14	96341690	96341690	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagctaggtgagagcttTggctcagtttcctacaataa	10	13	9	9	0	1	1	1	1	0	1	3	2	3	1	2	2	3	4	2	2	4	6	novel		11LU016_TP	11LU016_NB	T	T																c.756A>T	p.=	p.P252P	ENST00000359933	6/42	78	73	5	66	66	0	strelka-varscan-mutect	ATG2B,synonymous_variant,p.=,ENST00000359933,NM_018036.5;	A	ENST00000359933	Transcript	synonymous_variant	1650/13684	756/6237	252/2078	P	ccA/ccT		1		-1	ATG2B	HGNC	HGNC:20187	protein_coding	YES	CCDS9944.2	ENSP00000353010	Q96BY7		UPI000155D51F	NM_018036.5			6/42		hmmpanther:PTHR13190,hmmpanther:PTHR13190:SF20																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	2	96341690	96341690	T	A	1	0	0	0	0	0	0	0	1	1246	1799	63	4		4	ATG2B	14	96341690	Silent	SNP	T	11LU016_TP	1572481	96341690	10702028	436	492											
HHIPL1	0	.	GRCh38	chr14	99659704	99659704	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaactatggctggcgcgcGcgcgaagggttcgagtgcta	7	7	17	10	6	0	0	0	0	0	0	1	2	0	0	0	4	2	4	0	4	4	3	novel		11LU016_TP	11LU016_NB	G	G																c.1323G>A	p.=	p.A441A	ENST00000330710	4/9	36	26	10	32	32	0	strelka-varscan-mutect	HHIPL1,synonymous_variant,p.=,ENST00000330710,NM_001127258.1;HHIPL1,synonymous_variant,p.=,ENST00000357223,NM_032425.4;	A	ENST00000330710	Transcript	synonymous_variant	1421/7390	1323/2349	441/782	A	gcG/gcA		1		1	HHIPL1	HGNC	HGNC:19710	protein_coding	YES	CCDS45162.1	ENSP00000330601	Q96JK4	F1T0G3	UPI000022988D	NM_001127258.1			4/9		Superfamily_domains:0046203,Gene3D:2.120.10.30,Pfam_domain:PF07995,hmmpanther:PTHR19328,hmmpanther:PTHR19328:SF32																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	99659704	99659704	G	A	1	0	0	0	0	0	0	0	1	6978	1074	38	1		1	HHIPL1	14	99659704	Silent	SNP	G	11LU016_TP	3318014	99659704	7384014	437	493											
BEGAIN	0	.	GRCh38	chr14	100538690	100538690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagcggggccgccaccgcgGccgtggccttggcaaagcga	6	3	16	16	6	0	0	0	0	0	0	0	1	0	0	6	5	2	1	6	5	1	1	novel		11LU016_TP	11LU016_NB	G	G																c.1061C>A	p.Ala354Asp	p.A354D	ENST00000443071	6/6	221	172	49	233	233	0	strelka-varscan-mutect	BEGAIN,missense_variant,p.Ala573Asp,ENST00000637716,;BEGAIN,missense_variant,p.Ala384Asp,ENST00000637646,;BEGAIN,missense_variant,p.Ala354Asp,ENST00000443071,NM_001159531.1;BEGAIN,missense_variant,p.Ala354Asp,ENST00000355173,NM_020836.3;BEGAIN,downstream_gene_variant,,ENST00000556188,;BEGAIN,downstream_gene_variant,,ENST00000553553,;BEGAIN,downstream_gene_variant,,ENST00000554356,;BEGAIN,downstream_gene_variant,,ENST00000557378,;BEGAIN,downstream_gene_variant,,ENST00000554140,;CTD-2062F14.3,upstream_gene_variant,,ENST00000553301,;BEGAIN,non_coding_transcript_exon_variant,,ENST00000556751,;	T	ENST00000443071	Transcript	missense_variant	1207/2744	1061/1782	354/593	A/D	gCc/gAc		1		-1	BEGAIN	HGNC	HGNC:24163	protein_coding	YES	CCDS9962.1	ENSP00000411124	Q9BUH8		UPI00000710B1	NM_001159531.1	deleterious(0.05)		6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR28664,hmmpanther:PTHR28664:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	100538690	100538690	G	T	1	0	0	0	0	1	0	0	0	1545	1203	42	2		2	BEGAIN	14	100538690	Missense_Mutation	SNP	G	11LU016_TP	878986	100538690	6505028	438	494											
INF2	0	.	GRCh38	chr14	104713483	104713483	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaggaggtgtgtgtcAtcgatgccctgctggctgac	7	9	16	9	1	1	1	1	1	0	0	2	4	1	3	1	4	3	3	1	4	0	0	novel		11LU016_TP	11LU016_NB	A	A																c.2917A>T	p.Ile973Phe	p.I973F	ENST00000392634	20/23	531	451	80	574	574	0	strelka-varscan-mutect	INF2,missense_variant,p.Ile973Phe,ENST00000330634,NM_001031714.3;INF2,missense_variant,p.Ile973Phe,ENST00000392634,NM_022489.3;INF2,missense_variant,p.Ile441Phe,ENST00000252527,;INF2,5_prime_UTR_variant,,ENST00000617571,;INF2,upstream_gene_variant,,ENST00000481338,;INF2,non_coding_transcript_exon_variant,,ENST00000477497,;INF2,downstream_gene_variant,,ENST00000474229,;INF2,downstream_gene_variant,,ENST00000480763,;	T	ENST00000392634	Transcript	missense_variant	3029/4672	2917/3750	973/1249	I/F	Atc/Ttc		1		1	INF2	HGNC	HGNC:23791	protein_coding	YES	CCDS9989.2	ENSP00000376410	Q27J81		UPI000156D0FB	NM_022489.3	deleterious(0)		20/23		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF5,SMART_domains:SM00498																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	2	104713483	104713483	A	T	1	0	0	0	0	1	0	0	0	7636	217	8	4		4	INF2	14	104713483	Missense_Mutation	SNP	A	11LU016_TP	4174793	104713483	2330235	439	495											
AHNAK2	0	.	GRCh38	chr14	104948606	104948606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacgtccacctccacgctgGgcagagacacctccacatca	10	6	8	17	2	1	2	1	1	0	1	4	3	4	2	5	1	0	2	5	1	0	0	novel		11LU016_TP	11LU016_NB	G	G																c.6845C>A	p.Pro2282His	p.P2282H	ENST00000333244	7/7	678	529	149	647	644	3	strelka-varscan-mutect	AHNAK2,missense_variant,p.Pro2282His,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	T	ENST00000333244	Transcript	missense_variant	6965/18254	6845/17388	2282/5795	P/H	cCc/cAc		1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	tolerated(0.08)		7/7		hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348																	MODERATE	1	SNV	5			1										PASS		rs1242845083	.												T	3	4	2	104948606	104948606	G	T	1	0	0	0	0	1	0	0	0	492	1232	43	2		2	AHNAK2	14	104948606	Missense_Mutation	SNP	G	11LU016_TP	235123	104948606	2095112	440	496											
GABRA5	0	.	GRCh38	chr15	26937187	26937187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccctcctcatacagatGcgtaccctaattctgaagtc	9	11	6	15	1	2	2	1	1	1	1	4	2	3	2	4	0	4	1	4	0	4	4	novel		11LU016_TP	11LU016_NB	G	G																c.583G>T	p.Ala195Ser	p.A195S	ENST00000335625	8/11	202	151	51	403	402	1	strelka-varscan-mutect	GABRA5,missense_variant,p.Ala195Ser,ENST00000335625,NM_000810.3;GABRA5,missense_variant,p.Ala195Ser,ENST00000400081,NM_001165037.1;GABRA5,missense_variant,p.Ala195Ser,ENST00000355395,;GABRA5,missense_variant,p.Ala163Ser,ENST00000555182,;GABRB3,intron_variant,,ENST00000541819,;	T	ENST00000335625	Transcript	missense_variant,splice_region_variant	1471/3251	583/1389	195/462	A/S	Gcg/Tcg		1		1	GABRA5	HGNC	HGNC:4079	protein_coding	YES	CCDS45194.1	ENSP00000335592	P31644		UPI000002D731	NM_000810.3	deleterious(0)		8/11		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	26937187	26937187	G	T	1	0	0	0	0	1	0	0	0	6035	1333	46	2		2	GABRA5	15	26937187	Missense_Mutation	SNP	G	11LU016_TP		26937187	75054002	441	497											
SECISBP2L	0	.	GRCh38	chr15	49016985	49016985	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattggagtctgaactatatTgattggtgagttttcaggta	11	16	11	3	0	2	3	1	3	1	0	2	4	2	4	0	3	1	2	0	3	5	8	novel		11LU016_TP	11LU016_NB	T	T																c.1282A>T	p.Asn428Tyr	p.N428Y	ENST00000559471	10/18	133	98	35	109	109	0	strelka-varscan-mutect	SECISBP2L,missense_variant,p.Asn428Tyr,ENST00000559471,NM_001193489.1;SECISBP2L,missense_variant,p.Asn383Tyr,ENST00000261847,NM_014701.3;SECISBP2L,missense_variant,p.Asn190Tyr,ENST00000380927,;SECISBP2L,missense_variant,p.Asn300Tyr,ENST00000559424,;SECISBP2L,non_coding_transcript_exon_variant,,ENST00000561203,;SECISBP2L,non_coding_transcript_exon_variant,,ENST00000557940,;SECISBP2L,non_coding_transcript_exon_variant,,ENST00000558461,;SECISBP2L,upstream_gene_variant,,ENST00000559198,;	A	ENST00000559471	Transcript	missense_variant	1546/7176	1282/3306	428/1101	N/Y	Aat/Tat		1		-1	SECISBP2L	HGNC	HGNC:28997	protein_coding	YES	CCDS53942.1	ENSP00000453854	Q93073	A0A024R5R0	UPI00001C1F8B	NM_001193489.1	deleterious_low_confidence(0)		10/18		hmmpanther:PTHR13284:SF10,hmmpanther:PTHR13284																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	49016985	49016985	T	A	1	0	0	0	0	1	0	0	0	14284	1812	63	4		4	SECISBP2L	15	49016985	Missense_Mutation	SNP	T	11LU016_TP	22079798	49016985	52974204	442	498											
SMAD6	0	.	GRCh38	chr15	66781195	66781195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagtcggtgcggcgaacgcGcagcaagatcggcttcggca	8	5	16	12	8	0	1	0	0	0	1	3	3	0	1	0	4	3	4	0	4	2	1	rs748124400		11LU016_TP	11LU016_NB	G	G																c.1151G>T	p.Arg384Leu	p.R384L	ENST00000288840	4/4	319	227	92	316	315	1	strelka-varscan-mutect	SMAD6,missense_variant,p.Arg384Leu,ENST00000288840,NM_005585.4;SMAD6,3_prime_UTR_variant,,ENST00000557916,;SMAD6,3_prime_UTR_variant,,ENST00000559931,;	T	ENST00000288840	Transcript	missense_variant	2182/3835	1151/1491	384/496	R/L	cGc/cTc	rs748124400,COSM2257363	1		1	SMAD6	HGNC	HGNC:6772	protein_coding	YES	CCDS10221.1	ENSP00000288840	O43541		UPI0000071360	NM_005585.4	deleterious(0)		4/4		PROSITE_profiles:PS51076,hmmpanther:PTHR13703,Pfam_domain:PF03166,Gene3D:2.60.200.10,SMART_domains:SM00524,Superfamily_domains:SSF49879											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs748124400	.												T	3	4	2	66781195	66781195	G	T	1	0	0	0	0	1	0	0	0	15055	1087	38	1		1	SMAD6	15	66781195	Missense_Mutation	SNP	G	11LU016_TP	17764210	66781195	35209994	443	499											
ISL2	0	.	GRCh38	chr15	76340492	76340492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtctggttccagaacaagcGctgcaaggacaagaagaaat	15	6	11	9	2	1	3	0	0	1	3	2	4	2	4	1	2	3	3	1	2	6	1	novel		11LU016_TP	11LU016_NB	G	G																c.728G>A	p.Arg243His	p.R243H	ENST00000290759	4/6	187	177	10	227	227	0	strelka-varscan-mutect	ISL2,missense_variant,p.Arg243His,ENST00000290759,NM_145805.2;RP11-685G9.4,upstream_gene_variant,,ENST00000602530,;RP11-685G9.2,splice_region_variant,,ENST00000559539,;ISL2,synonymous_variant,p.=,ENST00000558656,;ISL2,downstream_gene_variant,,ENST00000558437,;	A	ENST00000290759	Transcript	missense_variant	888/1881	728/1080	243/359	R/H	cGc/cAc		1		1	ISL2	HGNC	HGNC:18524	protein_coding	YES	CCDS10290.1	ENSP00000290759	Q96A47		UPI000012D8FC	NM_145805.2	deleterious(0)		4/6		PROSITE_profiles:PS50071,hmmpanther:PTHR24204:SF2,hmmpanther:PTHR24204,PROSITE_patterns:PS00027,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	76340492	76340492	G	A	1	0	0	0	0	1	0	0	0	7764	1087	38	1		1	ISL2	15	76340492	Missense_Mutation	SNP	G	11LU016_TP	9559297	76340492	25650697	444	500											
MEX3B	0	.	GRCh38	chr15	82044359	82044359	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccacgagccccaccaCgcggtagggtacccgcactt	8	4	9	20	4	0	0	0	0	0	0	0	1	0	0	7	2	2	3	7	2	2	3	novel		11LU016_TP	11LU016_NB	C	C																c.511G>T	p.Val171Leu	p.V171L	ENST00000329713	2/2	79	62	17	116	116	0	strelka-varscan-mutect	MEX3B,missense_variant,p.Val171Leu,ENST00000329713,NM_032246.4;MEX3B,3_prime_UTR_variant,,ENST00000558133,;	A	ENST00000329713	Transcript	missense_variant	947/3528	511/1710	171/569	V/L	Gtg/Ttg		1		-1	MEX3B	HGNC	HGNC:25297	protein_coding	YES	CCDS10319.1	ENSP00000329918	Q6ZN04		UPI00001982CC	NM_032246.4	deleterious(0)		2/2		Low_complexity_(Seg):seg,PROSITE_profiles:PS50084,hmmpanther:PTHR23285,hmmpanther:PTHR23285:SF5,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	82044359	82044359	C	A	1	0	0	0	0	1	0	0	0	9463	536	19	1		1	MEX3B	15	82044359	Missense_Mutation	SNP	C	11LU016_TP	5703867	82044359	19946830	445	501											
C15orf40	0	.	GRCh38	chr15	83011594	83011594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtgcctcagcccgctgCggagccgcagcatccccgcc	6	4	13	18	4	1	0	1	0	0	0	2	2	2	1	6	2	5	3	6	2	1	0	novel		11LU016_TP	11LU016_NB	C	C																c.14G>T	p.Arg5Leu	p.R5L	ENST00000451195	1/5	122	100	22	165	165	0	strelka-varscan-mutect	C15orf40,missense_variant,p.Arg5Leu,ENST00000304177,NM_144597.2;C15orf40,missense_variant,p.Arg5Leu,ENST00000538348,NM_001160116.1;C15orf40,missense_variant,p.Arg5Leu,ENST00000565712,;C15orf40,missense_variant,p.Arg5Leu,ENST00000451195,NM_001160115.1;C15orf40,missense_variant,p.Arg4Leu,ENST00000510873,;BTBD1,downstream_gene_variant,,ENST00000261721,NM_025238.3;C15orf40,upstream_gene_variant,,ENST00000508990,NM_001160114.1;C15orf40,upstream_gene_variant,,ENST00000514272,;RP11-382A20.5,intron_variant,,ENST00000566841,;RP11-382A20.7,upstream_gene_variant,,ENST00000570202,;C15orf40,non_coding_transcript_exon_variant,,ENST00000505341,;C15orf40,non_coding_transcript_exon_variant,,ENST00000506912,;C15orf40,non_coding_transcript_exon_variant,,ENST00000565725,;C15orf40,upstream_gene_variant,,ENST00000512638,;C15orf40,upstream_gene_variant,,ENST00000563387,;	A	ENST00000451195	Transcript	missense_variant	14/518	14/504	5/167	R/L	cGc/cTc		1		-1	C15orf40	HGNC	HGNC:28443	protein_coding	YES	CCDS53969.1	ENSP00000403987	Q8WUR7		UPI0001A48FB7	NM_001160115.1	tolerated_low_confidence(0.46)		1/5																			MODERATE		SNV	3			1										PASS		.	.												A	3	1	2	83011594	83011594	C	A	1	0	0	0	0	1	0	0	0	1844	768	27	1		1	C15orf40	15	83011594	Missense_Mutation	SNP	C	11LU016_TP	967235	83011594	18979595	446	502											
BNC1	0	.	GRCh38	chr15	83264370	83264370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttcaacctgaaatggtgtgGaactggaagttaagaagctg	13	11	12	5	0	1	2	1	1	0	1	1	4	1	4	1	3	3	2	1	3	6	2	novel		11LU016_TP	11LU016_NB	G	G																c.881C>A	p.Ser294Tyr	p.S294Y	ENST00000345382	4/5	197	150	47	238	238	0	strelka-varscan-mutect	BNC1,missense_variant,p.Ser294Tyr,ENST00000345382,NM_001717.3;BNC1,missense_variant,p.Ser287Tyr,ENST00000569704,NM_001301206.1;RP11-382A20.4,intron_variant,,ENST00000565495,;	T	ENST00000345382	Transcript	missense_variant	967/4610	881/2985	294/994	S/Y	tCc/tAc		1		-1	BNC1	HGNC	HGNC:1081	protein_coding	YES	CCDS10324.1	ENSP00000307041	Q01954		UPI0000126796	NM_001717.3	tolerated(0.05)		4/5		hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1																	MODERATE	1	SNV	1			1										PASS		rs1390936371	.												T	3	4	2	83264370	83264370	G	T	1	0	0	0	0	1	0	0	0	1630	1174	41	2		2	BNC1	15	83264370	Missense_Mutation	SNP	G	11LU016_TP	252776	83264370	18726819	447	503											
NTRK3	0	.	GRCh38	chr15	88137494	88137494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgttgagcttggcctcccCctgctcctgccagagctgca	4	10	11	16	0	0	2	0	1	0	1	2	2	2	2	5	1	5	6	5	1	0	2	novel		11LU016_TP	11LU016_NB	C	C																c.532G>A	p.Gly178Arg	p.G178R	ENST00000360948	7/20	253	190	63	268	267	1	strelka-varscan-mutect	NTRK3,missense_variant,p.Gly178Arg,ENST00000394480,NM_002530.3;NTRK3,missense_variant,p.Gly178Arg,ENST00000558676,;NTRK3,missense_variant,p.Gly178Arg,ENST00000317501,;NTRK3,missense_variant,p.Gly178Arg,ENST00000360948,NM_001012338.2;NTRK3,missense_variant,p.Gly178Arg,ENST00000357724,;NTRK3,missense_variant,p.Gly178Arg,ENST00000355254,NM_001243101.1;NTRK3,missense_variant,p.Gly178Arg,ENST00000626019,;NTRK3,missense_variant,p.Gly178Arg,ENST00000629765,;NTRK3,missense_variant,p.Gly178Arg,ENST00000557856,;NTRK3,missense_variant,p.Gly80Arg,ENST00000542733,NM_001320135.1;NTRK3,missense_variant,p.Gly178Arg,ENST00000540489,NM_001007156.2;NTRK3,missense_variant,p.Gly80Arg,ENST00000559188,;NTRK3,upstream_gene_variant,,ENST00000560017,;NTRK3,upstream_gene_variant,,ENST00000559764,;	T	ENST00000360948	Transcript	missense_variant	838/3004	532/2520	178/839	G/R	Ggg/Agg		1		-1	NTRK3	HGNC	HGNC:8033	protein_coding	YES	CCDS32322.1	ENSP00000354207	Q16288	X5D2R1	UPI000006DC82	NM_001012338.2	deleterious(0.02)		7/20		Gene3D:3.80.10.10,Pfam_domain:PF16920,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF66,SMART_domains:SM00082,Superfamily_domains:SSF52058																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	2	88137494	88137494	C	T	1	0	0	0	0	1	0	0	0	10774	623	22	3		3	NTRK3	15	88137494	Missense_Mutation	SNP	C	11LU016_TP	4873124	88137494	13853695	448	504											
MCTP2	0	.	GRCh38	chr15	94385526	94385526	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccattcccttgctgtccGtaagtttcctttattaataa	8	18	5	10	1	0	0	0	0	0	0	3	0	3	0	4	0	2	3	4	0	4	9	rs200626556		11LU016_TP	11LU016_NB	G	G																c.1788+1G>T		p.X596_splice	ENST00000357742		129	100	29	111	110	1	strelka-varscan-mutect	MCTP2,splice_donor_variant,,ENST00000357742,NM_018349.3;MCTP2,splice_donor_variant,,ENST00000451018,NM_001159643.1;MCTP2,splice_donor_variant,,ENST00000557742,NM_001159644.1;MCTP2,splice_donor_variant,,ENST00000456504,;	T	ENST00000357742	Transcript	splice_donor_variant	-/7555	1788/2637	596/878			rs200626556,COSM1375577,COSM5101053	1		1	MCTP2	HGNC	HGNC:25636	protein_coding	YES	CCDS32338.1	ENSP00000350377	Q6DN12		UPI0000D613A2	NM_018349.3				13/21												0,1,1						HIGH	1	SNV	1		0,1,1	1										PASS		rs200626556	.												T	5	4	2	94385526	94385526	G	T	1	0	0	0	0	0	0	1	0	9337	1159	40	1		1	MCTP2	15	94385526	Splice_Site	SNP	G	11LU016_TP	6248032	94385526	7605663	449	505											
RPUSD1	0	.	GRCh38	chr16	786125	786125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagggtcgggggtggccCgtaaggcctgcacgagctgg	5	6	20	10	3	1	0	1	0	0	0	2	1	1	0	2	7	2	3	2	7	1	1	rs771317301		11LU016_TP	11LU016_NB	C	C																c.764G>T	p.Arg255Leu	p.R255L	ENST00000561734	5/5	87	64	23	109	109	0	strelka-varscan-mutect	RPUSD1,missense_variant,p.Arg255Leu,ENST00000561734,;RPUSD1,missense_variant,p.Arg255Leu,ENST00000007264,NM_001324415.1,NM_001324086.1,NM_058192.2;RPUSD1,missense_variant,p.Arg126Leu,ENST00000567114,NM_001324412.1;RPUSD1,missense_variant,p.Arg126Leu,ENST00000565377,;RPUSD1,missense_variant,p.Arg129Leu,ENST00000569601,;RPUSD1,3_prime_UTR_variant,,ENST00000565809,NM_001324411.1;CHTF18,upstream_gene_variant,,ENST00000631357,;CHTF18,upstream_gene_variant,,ENST00000455171,;CHTF18,upstream_gene_variant,,ENST00000262315,NM_022092.2;CHTF18,upstream_gene_variant,,ENST00000317063,;MSLNL,upstream_gene_variant,,ENST00000543963,;MSLNL,upstream_gene_variant,,ENST00000442466,;RPUSD1,downstream_gene_variant,,ENST00000562070,;CHTF18,upstream_gene_variant,,ENST00000426047,;RPUSD1,downstream_gene_variant,,ENST00000563560,;CHTF18,upstream_gene_variant,,ENST00000491530,;CHTF18,upstream_gene_variant,,ENST00000570058,;CHTF18,upstream_gene_variant,,ENST00000471202,;CHTF18,upstream_gene_variant,,ENST00000464728,;CHTF18,upstream_gene_variant,,ENST00000440239,;CHTF18,upstream_gene_variant,,ENST00000479976,;RPUSD1,downstream_gene_variant,,ENST00000567283,;CHTF18,upstream_gene_variant,,ENST00000569270,;CHTF18,upstream_gene_variant,,ENST00000567620,;CHTF18,upstream_gene_variant,,ENST00000563545,;CHTF18,upstream_gene_variant,,ENST00000484349,;RPUSD1,downstream_gene_variant,,ENST00000565503,;	A	ENST00000561734	Transcript	missense_variant	1008/2159	764/939	255/312	R/L	cGg/cTg	rs771317301	1		-1	RPUSD1	HGNC	HGNC:14173	protein_coding	YES	CCDS10426.1	ENSP00000455026	Q9UJJ7		UPI0000073C11		tolerated_low_confidence(0.25)		5/5																			MODERATE	1	SNV	1			1										PASS		rs771317301	.												A	3	1	2	786125	786125	C	A	1	0	0	0	0	1	0	0	0	13921	652	23	1		1	RPUSD1	16	786125	Missense_Mutation	SNP	C	11LU016_TP		786125	89552220	450	506											
BAIAP3	0	.	GRCh38	chr16	1338593	1338593	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcgtgctcaggcaggTgcaggtgtgcccgtccttcc	5	8	15	13	2	1	0	1	0	0	0	3	1	3	0	3	3	5	4	3	3	0	1	novel		11LU016_TP	11LU016_NB	T	T																c.149T>A	p.Val50Glu	p.V50E	ENST00000324385	2/34	134	116	18	213	213	0	strelka-varscan-mutect	BAIAP3,missense_variant,p.Val15Glu,ENST00000628027,;BAIAP3,missense_variant,p.Val50Glu,ENST00000324385,NM_003933.4;BAIAP3,missense_variant,p.Val15Glu,ENST00000397488,NM_001286464.1;BAIAP3,missense_variant,p.Val15Glu,ENST00000426824,NM_001199097.1;BAIAP3,missense_variant,p.Val15Glu,ENST00000421665,NM_001199096.1;BAIAP3,missense_variant,p.Val15Glu,ENST00000568887,NM_001199099.1;BAIAP3,missense_variant,p.Val15Glu,ENST00000562208,NM_001199098.1;BAIAP3,non_coding_transcript_exon_variant,,ENST00000567825,;BAIAP3,non_coding_transcript_exon_variant,,ENST00000565665,;BAIAP3,upstream_gene_variant,,ENST00000568198,;	A	ENST00000324385	Transcript	missense_variant	307/4678	149/3564	50/1187	V/E	gTg/gAg		1		1	BAIAP3	HGNC	HGNC:948	protein_coding	YES	CCDS10434.1	ENSP00000324510	O94812		UPI0000071E58	NM_003933.4	deleterious_low_confidence(0)		2/34		hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF65																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	1338593	1338593	T	A	1	0	0	0	0	1	0	0	0	1456	1696	59	4		4	BAIAP3	16	1338593	Missense_Mutation	SNP	T	11LU016_TP	552468	1338593	88999752	451	507											
UNKL	0	.	GRCh38	chr16	1394146	1394146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcactctcaacgtgtgcaaAggcacagaaggggccgcgcg	10	5	13	13	4	2	1	2	0	1	1	3	1	2	1	1	3	2	2	1	3	3	0	novel		11LU016_TP	11LU016_NB	A	A																c.922T>C	p.Phe308Leu	p.F308L	ENST00000389221	7/15	180	139	41	216	216	0	strelka-varscan-mutect	UNKL,missense_variant,p.Phe308Leu,ENST00000389221,NM_001193388.3;UNKL,missense_variant,p.Phe308Leu,ENST00000508903,;UNKL,downstream_gene_variant,,ENST00000301712,NM_001037125.3;UNKL,3_prime_UTR_variant,,ENST00000382757,;UNKL,downstream_gene_variant,,ENST00000502438,;UNKL,downstream_gene_variant,,ENST00000509981,;	G	ENST00000389221	Transcript	missense_variant	951/5116	922/2052	308/683	F/L	Ttt/Ctt		1		-1	UNKL	HGNC	HGNC:14184	protein_coding			ENSP00000373873		A0A0A0MRZ1	UPI0002B3F787	NM_001193388.3	deleterious(0.01)		7/15		Gene3D:1m9oA00,Pfam_domain:PF00642,PROSITE_profiles:PS50103,hmmpanther:PTHR14493,hmmpanther:PTHR14493:SF37,SMART_domains:SM00356,Superfamily_domains:SSF90229																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	2	1394146	1394146	A	G	1	0	0	0	0	1	0	0	0	17527	72	3	5		5	UNKL	16	1394146	Missense_Mutation	SNP	A	11LU016_TP	55553	1394146	88944199	452	508											
MAPK8IP3	0	.	GRCh38	chr16	1748634	1748634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcgtgaacaaagctttcgGcatcaacaccgactccctgt	11	9	7	14	3	1	1	1	1	0	0	4	2	2	1	2	1	3	2	2	1	3	1	novel		11LU016_TP	11LU016_NB	G	G																c.1127G>A	p.Gly376Asp	p.G376D	ENST00000250894	8/32	403	374	29	368	367	1	strelka-varscan-mutect	MAPK8IP3,missense_variant,p.Gly376Asp,ENST00000250894,NM_001318852.1,NM_015133.3;MAPK8IP3,missense_variant,p.Gly377Asp,ENST00000610761,;MAPK8IP3,missense_variant,p.Gly376Asp,ENST00000356010,NM_001040439.1;LA16c-361A3.3,downstream_gene_variant,,ENST00000569670,;MAPK8IP3,non_coding_transcript_exon_variant,,ENST00000568271,;MAPK8IP3,3_prime_UTR_variant,,ENST00000567849,;MAPK8IP3,non_coding_transcript_exon_variant,,ENST00000568774,;MAPK8IP3,downstream_gene_variant,,ENST00000564098,;MAPK8IP3,downstream_gene_variant,,ENST00000561765,;	A	ENST00000250894	Transcript	missense_variant	1284/5661	1127/4011	376/1336	G/D	gGc/gAc		1		1	MAPK8IP3	HGNC	HGNC:6884	protein_coding	YES	CCDS10442.2	ENSP00000250894	Q9UPT6		UPI000034ECA7	NM_001318852.1,NM_015133.3	tolerated(1)		8/32		hmmpanther:PTHR13886,hmmpanther:PTHR13886:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	1748634	1748634	G	A	1	0	0	0	0	1	0	0	0	9210	1203	42	3		3	MAPK8IP3	16	1748634	Missense_Mutation	SNP	G	11LU016_TP	354488	1748634	88589711	453	509											
PKD1	0	.	GRCh38	chr16	2090437	2090437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcccccagccgtagggCgccccacagccgcagtgccc	8	2	11	20	3	0	0	0	0	0	0	0	0	0	0	7	1	5	2	7	1	2	1			11LU016_TP	11LU016_NB	C	C																c.12292G>T	p.Ala4098Ser	p.A4098S	ENST00000262304	45/46	480	395	85	506	505	1	strelka-varscan-mutect	PKD1,missense_variant,p.Ala4098Ser,ENST00000262304,NM_001009944.2;PKD1,missense_variant,p.Ala4097Ser,ENST00000423118,NM_000296.3;TSC2,downstream_gene_variant,,ENST00000219476,NM_000548.3;TSC2,downstream_gene_variant,,ENST00000350773,NM_001114382.1;TSC2,downstream_gene_variant,,ENST00000568454,NM_001318832.1;TSC2,downstream_gene_variant,,ENST00000401874,NM_001077183.1;TSC2,downstream_gene_variant,,ENST00000439673,NM_001318827.1;TSC2,downstream_gene_variant,,ENST00000382538,NM_001318829.1;TSC2,downstream_gene_variant,,ENST00000569110,;MIR1225,upstream_gene_variant,,ENST00000408729,;RP11-304L19.1,upstream_gene_variant,,ENST00000570072,;RP11-304L19.3,downstream_gene_variant,,ENST00000565937,;RP11-304L19.1,upstream_gene_variant,,ENST00000563284,;PKD1,non_coding_transcript_exon_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000487932,;TSC2,downstream_gene_variant,,ENST00000439117,NM_001318831.1;TSC2,downstream_gene_variant,,ENST00000497886,;TSC2,downstream_gene_variant,,ENST00000569930,;PKD1,downstream_gene_variant,,ENST00000485120,;PKD1,downstream_gene_variant,,ENST00000561668,;PKD1,downstream_gene_variant,,ENST00000472659,;PKD1,downstream_gene_variant,,ENST00000562425,;PKD1,downstream_gene_variant,,ENST00000567355,;PKD1,downstream_gene_variant,,ENST00000564313,;PKD1,downstream_gene_variant,,ENST00000568796,;	A	ENST00000262304	Transcript	missense_variant	12501/14138	12292/12912	4098/4303	A/S	Gcc/Tcc	COSM4059178	1		-1	PKD1	HGNC	HGNC:9008	protein_coding	YES	CCDS32369.1	ENSP00000262304	P98161		UPI00001B0454	NM_001009944.2	tolerated(0.06)		45/46		Pfam_domain:PF08016,Prints_domain:PR00500,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF143,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		rs1346816281	.												A	3	1	2	2090437	2090437	C	A	1	0	0	0	0	1	0	0	0	12059	768	27	1		1	PKD1	16	2090437	Missense_Mutation	SNP	C	11LU016_TP	341803	2090437	88247908	454	510											
NTN3	0	.	GRCh38	chr16	2472315	2472315	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccccaggcctggaccTggacagcagcccagtgctcc	7	4	11	19	0	0	0	0	0	0	0	1	2	1	2	7	3	4	2	7	3	0	0	rs370583910		11LU016_TP	11LU016_NB	T	T																c.614T>A	p.Leu205Gln	p.L205Q	ENST00000293973	1/6	100	72	28	106	106	0	strelka-varscan-mutect	NTN3,missense_variant,p.Leu205Gln,ENST00000293973,NM_006181.2;TBC1D24,upstream_gene_variant,,ENST00000567020,NM_020705.2;TBC1D24,upstream_gene_variant,,ENST00000293970,NM_001199107.1;RP11-715J22.6,upstream_gene_variant,,ENST00000561847,;RP11-715J22.2,upstream_gene_variant,,ENST00000563775,;TBC1D24,upstream_gene_variant,,ENST00000630263,;TBC1D24,upstream_gene_variant,,ENST00000569874,;	A	ENST00000293973	Transcript	missense_variant	817/1986	614/1743	205/580	L/Q	cTg/cAg	rs370583910	1		1	NTN3	HGNC	HGNC:8030	protein_coding	YES	CCDS10469.1	ENSP00000293973	O00634		UPI000006ED30	NM_006181.2	deleterious(0)		1/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF292,Pfam_domain:PF00055,SMART_domains:SM00136																	MODERATE	1	SNV	1			1										PASS		rs370583910	.												A	3	1	2	2472315	2472315	T	A	1	0	0	0	0	1	0	0	0	10766	1580	55	4		4	NTN3	16	2472315	Missense_Mutation	SNP	T	11LU016_TP	381878	2472315	87866030	455	511											
ERCC4	0	.	GRCh38	chr16	13948145	13948145	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtataatcctggtccccaagActtcttgttaaaaatgccag	12	12	7	10	0	1	1	0	0	1	1	3	1	3	1	4	1	1	2	4	1	6	5	rs754705146		11LU016_TP	11LU016_NB	A	A																c.2549A>T	p.Asp850Val	p.D850V	ENST00000311895	11/11	282	263	19	231	231	0	strelka-varscan-mutect	ERCC4,missense_variant,p.Asp850Val,ENST00000311895,NM_005236.2;ERCC4,non_coding_transcript_exon_variant,,ENST00000389138,;ERCC4,downstream_gene_variant,,ENST00000462862,;	T	ENST00000311895	Transcript	missense_variant	2558/6758	2549/2751	850/916	D/V	gAc/gTc	rs754705146	1		1	ERCC4	HGNC	HGNC:3436	protein_coding	YES	CCDS32390.1	ENSP00000310520	Q92889		UPI0000161BBF	NM_005236.2	deleterious(0)		11/11		hmmpanther:PTHR10150,Superfamily_domains:SSF47781,TIGRFAM_domain:TIGR00596																	MODERATE	1	SNV	1			1										PASS		rs754705146	.												T	3	4	2	13948145	13948145	A	T	1	0	0	0	0	1	0	0	0	5064	275	10	4		4	ERCC4	16	13948145	Missense_Mutation	SNP	A	11LU016_TP	11475830	13948145	76390200	456	512											
ARL6IP1	0	.	GRCh38	chr16	18793346	18793346	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgattccatgttggtttagtCcaggaagcaatagtaaggaa	13	12	11	5	0	0	1	0	1	0	0	2	3	2	3	2	3	1	4	2	3	6	6	novel		11LU016_TP	11LU016_NB	C	C																c.518G>T	p.Gly173Val	p.G173V	ENST00000304414	6/6	62	42	20	140	140	0	strelka-varscan-mutect	ARL6IP1,missense_variant,p.Gly173Val,ENST00000304414,NM_015161.1;ARL6IP1,missense_variant,p.Gly144Val,ENST00000546206,;ARL6IP1,missense_variant,p.Gly58Val,ENST00000562819,;RP11-1035H13.3,intron_variant,,ENST00000567078,;RPS15A,upstream_gene_variant,,ENST00000322989,NM_001019.4;RPS15A,upstream_gene_variant,,ENST00000576436,;RPS15A,upstream_gene_variant,,ENST00000569083,;RPS15A,upstream_gene_variant,,ENST00000565420,;RPS15A,upstream_gene_variant,,ENST00000563390,NM_001030009.1;ARL6IP1,downstream_gene_variant,,ENST00000562234,;RPS15A,upstream_gene_variant,,ENST00000573554,;ARL6IP1,3_prime_UTR_variant,,ENST00000563861,;ARL6IP1,downstream_gene_variant,,ENST00000566391,;RPS15A,upstream_gene_variant,,ENST00000572008,;ARL6IP1,downstream_gene_variant,,ENST00000569976,;RPS15A,upstream_gene_variant,,ENST00000576008,;ARL6IP1,downstream_gene_variant,,ENST00000567969,;RPS15A,upstream_gene_variant,,ENST00000569365,;RPS15A,upstream_gene_variant,,ENST00000562935,;RPS15A,upstream_gene_variant,,ENST00000574723,;	A	ENST00000304414	Transcript	missense_variant	730/2409	518/612	173/203	G/V	gGa/gTa		1		-1	ARL6IP1	HGNC	HGNC:697	protein_coding	YES	CCDS10572.1	ENSP00000306788	Q15041	A0A024QYV7	UPI0000125D46	NM_015161.1	deleterious(0)		6/6		Transmembrane_helices:TMhelix,hmmpanther:PTHR20952:SF3,hmmpanther:PTHR20952																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	18793346	18793346	C	A	1	0	0	0	0	1	0	0	0	1082	855	30	2		2	ARL6IP1	16	18793346	Missense_Mutation	SNP	C	11LU016_TP	4845201	18793346	71544999	457	513											
ACSM1	0	.	GRCh38	chr16	20685371	20685371	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccccttggccattcacccaCcaaaaagctggatttggacc	10	9	7	15	0	1	0	1	0	0	0	2	2	2	2	6	3	1	1	6	3	2	3	novel		11LU016_TP	11LU016_NB	C	C																c.225G>T	p.Trp75Cys	p.W75C	ENST00000307493	2/13	319	240	79	328	327	1	strelka-varscan-mutect	ACSM1,missense_variant,p.Trp75Cys,ENST00000307493,NM_001318890.1,NM_052956.2;ACSM1,missense_variant,p.Trp75Cys,ENST00000520010,;ACSM1,missense_variant,p.Trp75Cys,ENST00000523065,;ACSM3,intron_variant,,ENST00000561584,;ACSM3,intron_variant,,ENST00000568235,;ACSM3,intron_variant,,ENST00000501740,;ACSM3,downstream_gene_variant,,ENST00000614721,;ACSM1,missense_variant,p.Trp75Cys,ENST00000519745,;	A	ENST00000307493	Transcript	missense_variant	293/2051	225/1734	75/577	W/C	tgG/tgT		1		-1	ACSM1	HGNC	HGNC:18049	protein_coding	YES	CCDS10587.1	ENSP00000301956	Q08AH1		UPI00000558D0	NM_001318890.1,NM_052956.2	deleterious(0)		2/13		hmmpanther:PTHR24095:SF150,hmmpanther:PTHR24095,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	20685371	20685371	C	A	1	0	0	0	0	1	0	0	0	224	508	18	2		2	ACSM1	16	20685371	Missense_Mutation	SNP	C	11LU016_TP	1892025	20685371	69652974	458	514											
C16orf82	0	.	GRCh38	chr16	27067044	27067044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttctcgagggagaaaaaGgggaatcctctgtccagaat	12	11	11	7	1	2	2	0	0	2	2	5	5	4	3	2	3	0	0	2	3	4	2	novel		11LU016_TP	11LU016_NB	G	G																c.238G>A	p.Gly80Arg	p.G80R	ENST00000505035	1/1	416	351	65	411	411	0	strelka-varscan-mutect	C16orf82,missense_variant,p.Gly80Arg,ENST00000505035,;C16orf82,missense_variant,p.Gly17Arg,ENST00000418886,NM_001145545.1;RP11-673P17.2,intron_variant,,ENST00000565783,;	A	ENST00000505035	Transcript	missense_variant	338/2459	238/654	80/217	G/R	Ggg/Agg		1		1	C16orf82	HGNC	HGNC:30755	protein_coding	YES		ENSP00000489874	Q7Z2V1		UPI00001B3F63		tolerated(0.12)		1/1		Pfam_domain:PF15765,hmmpanther:PTHR40139,hmmpanther:PTHR40139:SF1																	MODERATE		SNV				1										PASS		.	.												A	3	1	2	27067044	27067044	G	A	1	0	0	0	0	1	0	0	0	1867	1000	35	3		3	C16orf82	16	27067044	Missense_Mutation	SNP	G	11LU016_TP	6381673	27067044	63271301	459	515											
IL21R	0	.	GRCh38	chr16	27448875	27448875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacggctacccagccctggaCctggatgctggcctggagcc	6	6	14	15	1	0	0	0	0	0	0	0	4	0	3	5	5	4	2	5	5	1	1	novel		11LU016_TP	11LU016_NB	C	C																c.1209C>A	p.Asp403Glu	p.D403E	ENST00000337929	9/9	110	82	28	96	96	0	strelka-varscan-mutect	IL21R,missense_variant,p.Asp403Glu,ENST00000337929,NM_181078.2;IL21R,missense_variant,p.Asp403Glu,ENST00000564089,NM_181079.4;IL21R,missense_variant,p.Asp403Glu,ENST00000395754,NM_021798.3;IL21R-AS1,non_coding_transcript_exon_variant,,ENST00000563191,;IL21R,downstream_gene_variant,,ENST00000564583,;IL21R,downstream_gene_variant,,ENST00000561953,;	A	ENST00000337929	Transcript	missense_variant	1682/4849	1209/1617	403/538	D/E	gaC/gaA		1		1	IL21R	HGNC	HGNC:6006	protein_coding	YES	CCDS10630.1	ENSP00000338010	Q9HBE5		UPI0000043CF0	NM_181078.2	deleterious(0.01)		9/9		hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	27448875	27448875	C	A	1	0	0	0	0	1	0	0	0	7574	506	18	2		2	IL21R	16	27448875	Missense_Mutation	SNP	C	11LU016_TP	381831	27448875	62889470	460	516											
SPNS1	0	.	GRCh38	chr16	28983939	28983939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgaggccgaccgccggcggGcacagctgcacgtgcagggt	6	5	17	13	5	0	1	0	1	0	0	0	2	0	1	3	4	3	4	3	4	0	1	novel		11LU016_TP	11LU016_NB	G	G																c.1474G>T	p.Ala492Ser	p.A492S	ENST00000311008	11/12	40	27	13	26	26	0	strelka-varscan-mutect	SPNS1,missense_variant,p.Ala492Ser,ENST00000311008,NM_001142448.1,NM_032038.2;SPNS1,missense_variant,p.Ala419Ser,ENST00000323081,NM_001142450.1;SPNS1,missense_variant,p.Ala440Ser,ENST00000334536,NM_001142451.1;SPNS1,missense_variant,p.Ala537Ser,ENST00000565975,;SPNS1,missense_variant,p.Ala418Ser,ENST00000352260,NM_001142449.1;SPNS1,missense_variant,p.Ala258Ser,ENST00000564476,;SPNS1,missense_variant,p.Ala143Ser,ENST00000568829,;SPNS1,intron_variant,,ENST00000566059,;LAT,upstream_gene_variant,,ENST00000395456,NM_001014987.1;LAT,upstream_gene_variant,,ENST00000360872,NM_014387.3;LAT,upstream_gene_variant,,ENST00000395461,NM_001014989.1;LAT,upstream_gene_variant,,ENST00000454369,NM_001014988.1;LAT,upstream_gene_variant,,ENST00000564277,;SPNS1,downstream_gene_variant,,ENST00000567771,;LAT,upstream_gene_variant,,ENST00000566177,;SPNS1,downstream_gene_variant,,ENST00000568388,;LAT,upstream_gene_variant,,ENST00000570232,;LAT,upstream_gene_variant,,ENST00000630764,;RP11-264B17.3,upstream_gene_variant,,ENST00000354453,;LAT,upstream_gene_variant,,ENST00000563964,;SPNS1,downstream_gene_variant,,ENST00000561868,;RP11-264B17.3,non_coding_transcript_exon_variant,,ENST00000569969,;LAT,upstream_gene_variant,,ENST00000564447,;SPNS1,downstream_gene_variant,,ENST00000568900,;LAT,upstream_gene_variant,,ENST00000566270,;LAT,upstream_gene_variant,,ENST00000562701,;LAT,upstream_gene_variant,,ENST00000568899,;LAT,upstream_gene_variant,,ENST00000562472,;LAT,upstream_gene_variant,,ENST00000568440,;	T	ENST00000311008	Transcript	missense_variant	1851/2208	1474/1587	492/528	A/S	Gca/Tca		1		1	SPNS1	HGNC	HGNC:30621	protein_coding	YES	CCDS10646.1	ENSP00000309945	Q9H2V7		UPI000004DB99	NM_001142448.1,NM_032038.2	deleterious(0)		11/12		hmmpanther:PTHR23505,hmmpanther:PTHR23505:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	28983939	28983939	G	T	1	0	0	0	0	1	0	0	0	15427	1203	42	2		2	SPNS1	16	28983939	Missense_Mutation	SNP	G	11LU016_TP	1535064	28983939	61354406	461	517											
ITGAX	0	.	GRCh38	chr16	31363038	31363038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattactacgagcagacccGagggggccaggtgtctgtgt	8	8	14	11	2	1	1	0	0	1	1	1	3	1	1	3	3	3	1	3	3	2	2	rs151306268		11LU016_TP	11LU016_NB	G	G																c.1463G>T	p.Arg488Leu	p.R488L	ENST00000562522	13/31	101	84	17	136	136	0	strelka-varscan-mutect	ITGAX,missense_variant,p.Arg488Leu,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Arg488Leu,ENST00000562522,NM_001286375.1;ITGAX,downstream_gene_variant,,ENST00000562918,;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;RP11-120K18.3,upstream_gene_variant,,ENST00000561830,;	T	ENST00000562522	Transcript	missense_variant	1496/3990	1463/3510	488/1169	R/L	cGa/cTa	rs151306268	1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	deleterious(0.03)		13/31		Gene3D:3nigC00,Pfam_domain:PF01839,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,SMART_domains:SM00191,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		rs151306268	.												T	3	4	2	31363038	31363038	G	T	1	0	0	0	0	1	0	0	0	7796	1058	37	1		1	ITGAX	16	31363038	Missense_Mutation	SNP	G	11LU016_TP	2379099	31363038	58975307	462	518											
ITGAX	0	.	GRCh38	chr16	31371678	31371678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccctcgaccctggccGcctgagtccccgtgccacct	3	7	10	21	3	0	1	0	1	0	0	2	2	1	1	9	2	1	0	9	2	0	0	rs146647978		11LU016_TP	11LU016_NB	G	G																c.2054G>T	p.Arg685Leu	p.R685L	ENST00000562522	17/31	253	231	22	248	248	0	strelka-mutect	ITGAX,missense_variant,p.Arg685Leu,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Arg685Leu,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,non_coding_transcript_exon_variant,,ENST00000562138,;	T	ENST00000562522	Transcript	missense_variant	2087/3990	2054/3510	685/1169	R/L	cGc/cTc	rs146647978,COSM403529,COSM703158	1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	deleterious(0.03)		17/31		Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,Superfamily_domains:SSF69179											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs146647978	.												T	3	4	2	31371678	31371678	G	T	1	0	0	0	0	1	0	0	0	7796	1087	38	1		1	ITGAX	16	31371678	Missense_Mutation	SNP	G	11LU016_TP	8640	31371678	58966667	463	519											
MYLK3	0	.	GRCh38	chr16	46709662	46709662	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggcactgtgtggcactCattctgcagctgtgaaatca	9	12	10	10	0	4	1	3	1	1	0	4	1	4	1	0	2	2	4	0	2	1	2	rs756620434		11LU016_TP	11LU016_NB	C	C																c.2277G>T	p.Met759Ile	p.M759I	ENST00000394809	12/13	104	88	16	105	105	0	strelka-varscan-mutect	MYLK3,missense_variant,p.Met759Ile,ENST00000394809,NM_182493.2;MYLK3,missense_variant,p.Met418Ile,ENST00000536476,NM_001308301.1;MYLK3,non_coding_transcript_exon_variant,,ENST00000562104,;MYLK3,non_coding_transcript_exon_variant,,ENST00000565182,;	A	ENST00000394809	Transcript	missense_variant	2393/6911	2277/2460	759/819	M/I	atG/atT	rs756620434	1		-1	MYLK3	HGNC	HGNC:29826	protein_coding	YES	CCDS10723.2	ENSP00000378288	Q32MK0		UPI000059D380	NM_182493.2	tolerated(0.15)		12/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF45,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs756620434	.												A	3	1	2	46709662	46709662	C	A	1	0	0	0	0	1	0	0	0	10058	826	29	2		2	MYLK3	16	46709662	Missense_Mutation	SNP	C	11LU016_TP	15337984	46709662	43628683	464	520											
MYLK3	0	.	GRCh38	chr16	46729119	46729119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttcatgatgttgatctcGttcttcacgtcctccttggg	4	17	10	10	2	4	2	2	2	2	0	7	2	6	2	2	2	0	3	2	2	0	5	rs150532170		11LU016_TP	11LU016_NB	G	G																c.1677C>A	p.Asn559Lys	p.N559K	ENST00000394809	7/13	180	151	29	227	226	1	strelka-varscan-mutect	MYLK3,missense_variant,p.Asn559Lys,ENST00000394809,NM_182493.2;MYLK3,missense_variant,p.Asn218Lys,ENST00000536476,NM_001308301.1;MYLK3,non_coding_transcript_exon_variant,,ENST00000564731,;MYLK3,non_coding_transcript_exon_variant,,ENST00000569844,;	T	ENST00000394809	Transcript	missense_variant	1793/6911	1677/2460	559/819	N/K	aaC/aaA	rs150532170	1		-1	MYLK3	HGNC	HGNC:29826	protein_coding	YES	CCDS10723.2	ENSP00000378288	Q32MK0		UPI000059D380	NM_182493.2	deleterious(0)		7/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF45,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs150532170	.												T	3	4	2	46729119	46729119	G	T	1	0	0	0	0	1	0	0	0	10058	1136	40	1		1	MYLK3	16	46729119	Missense_Mutation	SNP	G	11LU016_TP	19457	46729119	43609226	465	521											
C16orf87	0	.	GRCh38	chr16	46824413	46824413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtgatttctctgagtGttttgcatttaaaagttttc	8	19	10	4	0	1	2	0	2	1	0	3	2	1	2	0	2	1	3	0	2	2	7	novel		11LU016_TP	11LU016_NB	G	G																c.136C>T	p.His46Tyr	p.H46Y	ENST00000285697	2/4	197	184	13	184	184	0	strelka-mutect	C16orf87,missense_variant,p.His46Tyr,ENST00000394806,;C16orf87,missense_variant,p.His46Tyr,ENST00000285697,NM_001001436.2;C16orf87,missense_variant,p.His51Tyr,ENST00000565112,;C16orf87,non_coding_transcript_exon_variant,,ENST00000564250,;	A	ENST00000285697	Transcript	missense_variant	398/1585	136/465	46/154	H/Y	Cac/Tac		1		-1	C16orf87	HGNC	HGNC:33754	protein_coding	YES	CCDS10724.1	ENSP00000285697	Q6PH81		UPI00001610B9	NM_001001436.2	tolerated(1)		2/4		hmmpanther:PTHR31101,hmmpanther:PTHR31101:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	46824413	46824413	G	A	1	0	0	0	0	1	0	0	0	1869	1377	48	3		3	C16orf87	16	46824413	Missense_Mutation	SNP	G	11LU016_TP	95294	46824413	43513932	466	522											
ZNF423	0	.	GRCh38	chr16	49638184	49638184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcacatggggcacttgTgtttctggttggcgtgggct	4	12	17	8	1	1	0	0	0	1	0	1	0	1	0	0	6	0	5	0	6	0	3	novel		11LU016_TP	11LU016_NB	T	T																c.968A>G	p.His323Arg	p.H323R	ENST00000561648	5/9	548	462	86	598	597	1	strelka-varscan-mutect	ZNF423,missense_variant,p.His323Arg,ENST00000561648,;ZNF423,missense_variant,p.His263Arg,ENST00000563137,;ZNF423,missense_variant,p.His323Arg,ENST00000262383,NM_015069.3;ZNF423,missense_variant,p.His263Arg,ENST00000562871,;ZNF423,missense_variant,p.His206Arg,ENST00000535559,;ZNF423,missense_variant,p.His263Arg,ENST00000562520,NM_001271620.1;ZNF423,missense_variant,p.His206Arg,ENST00000567169,;	C	ENST00000561648	Transcript	missense_variant	1269/7907	968/3855	323/1284	H/R	cAc/cGc		1		-1	ZNF423	HGNC	HGNC:16762	protein_coding	YES	CCDS32445.1	ENSP00000455426	Q2M1K9		UPI0000353ABC		tolerated(0.1)		5/9		PROSITE_profiles:PS50157,SMART_domains:SM00355																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	2	49638184	49638184	T	C	1	0	0	0	0	1	0	0	0	18470	1696	59	5		5	ZNF423	16	49638184	Missense_Mutation	SNP	T	11LU016_TP	2813771	49638184	40700161	467	523											
SNX20	0	.	GRCh38	chr16	50677494	50677494	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttatgggtcccatgcaGccagggctcccagggtgctc	5	9	15	12	0	0	0	0	0	0	0	3	0	2	0	3	4	3	4	3	4	1	1	novel		11LU016_TP	11LU016_NB	G	G																c.33C>G	p.=	p.G11G	ENST00000330943	2/4	92	82	10	92	92	0	strelka-varscan-mutect	SNX20,synonymous_variant,p.=,ENST00000300590,NM_153337.2;SNX20,synonymous_variant,p.=,ENST00000330943,NM_182854.2;SNX20,synonymous_variant,p.=,ENST00000423026,NM_001144972.1;SNX20,synonymous_variant,p.=,ENST00000610485,;SNX20,synonymous_variant,p.=,ENST00000568993,;	C	ENST00000330943	Transcript	synonymous_variant	205/2904	33/951	11/316	G	ggC/ggG		1		-1	SNX20	HGNC	HGNC:30390	protein_coding	YES	CCDS10745.1	ENSP00000332062	Q7Z614		UPI000004348D	NM_182854.2			2/4		hmmpanther:PTHR20939,hmmpanther:PTHR20939:SF1																	LOW	1	SNV	1			1										PASS		rs1177462840	.												C	2	2	2	50677494	50677494	G	C	1	0	0	0	0	0	0	0	1	15213	958	34	4		4	SNX20	16	50677494	Silent	SNP	G	11LU016_TP	1039310	50677494	39660851	468	524											
RBL2	0	.	GRCh38	chr16	53479159	53479168	+	Frame_Shift_Del	DEL	AAAAGAAGAT	AAAAGAAGAT	-																															cttattgtttgccaggtcacAaaagaagataagtccttcca																								novel		11LU016_TP	11LU016_NB	AAAAGAAGAT	AAAAGAAGAT																c.2711_2720delAAGAAGATAA	p.Lys904SerfsTer25	p.K904Sfs*25	ENST00000262133	18/22	210	168	42	198	198	0	sindel-pindel	RBL2,frameshift_variant,p.Lys904SerfsTer25,ENST00000262133,NM_001323611.1,NM_005611.3;RBL2,non_coding_transcript_exon_variant,,ENST00000379935,;RP11-44F14.7,non_coding_transcript_exon_variant,,ENST00000624289,;RBL2,upstream_gene_variant,,ENST00000564605,;	-	ENST00000262133	Transcript	frameshift_variant	2846-2855/4906	2709-2718/3420	903-906/1139	TKED/X	acAAAAGAAGAT/ac		1		1	RBL2	HGNC	HGNC:9894	protein_coding	YES	CCDS10748.1	ENSP00000262133	Q08999		UPI000013D264	NM_001323611.1,NM_005611.3			18/22		hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF8,Gene3D:1.10.472.10,Pfam_domain:PF01857,SMART_domains:SM00385,Superfamily_domains:SSF47954																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	2	53479159	53479159	AAAAGAAGAT	-	1	0	1	0	1	0	0	0	0	13276	144	5	0		0	RBL2	16	53479159	Frame_Shift_Del	DEL	AAAAGAAGAT	11LU016_TP	2801665	53479159	36859186	469	525											
IRX3	0	.	GRCh38	chr16	54285099	54285099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcaggctcggtggccgcgCcgtctaagttctccaaatcg	6	9	12	14	5	3	0	1	0	2	0	6	0	3	0	3	3	0	3	3	3	2	2	rs750442189		11LU016_TP	11LU016_NB	C	C																c.782G>T	p.Gly261Val	p.G261V	ENST00000329734	2/4	173	151	22	186	186	0	strelka-varscan-mutect	IRX3,missense_variant,p.Gly261Val,ENST00000329734,NM_024336.2;IRX3,intron_variant,,ENST00000558054,;RP11-434E6.5,upstream_gene_variant,,ENST00000637770,;IRX3,non_coding_transcript_exon_variant,,ENST00000558180,;	A	ENST00000329734	Transcript	missense_variant	1495/2601	782/1506	261/501	G/V	gGc/gTc	rs750442189	1		-1	IRX3	HGNC	HGNC:14360	protein_coding	YES	CCDS10750.1	ENSP00000331608	P78415		UPI000019745F	NM_024336.2	tolerated(0.11)		2/4		Low_complexity_(Seg):seg,hmmpanther:PTHR11211:SF14,hmmpanther:PTHR11211																	MODERATE	1	SNV	1			1										PASS		rs750442189	.												A	3	1	2	54285099	54285099	C	A	1	0	0	0	0	1	0	0	0	7753	739	26	2		2	IRX3	16	54285099	Missense_Mutation	SNP	C	11LU016_TP	805940	54285099	36053246	470	526											
LRRC36	0	.	GRCh38	chr16	67378667	67378667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattcaacagttggaggaaGgtgctgccatctcaattgtg	12	11	11	7	0	2	0	2	0	1	0	3	2	2	2	1	3	3	2	1	3	4	3	novel		11LU016_TP	11LU016_NB	G	G																c.1885G>A	p.Gly629Ser	p.G629S	ENST00000329956	12/14	155	134	21	163	163	0	strelka-varscan-mutect	LRRC36,missense_variant,p.Gly629Ser,ENST00000329956,NM_018296.5;LRRC36,missense_variant,p.Gly508Ser,ENST00000563189,NM_001161575.1;LRRC36,missense_variant,p.Gly404Ser,ENST00000435835,;LRRC36,3_prime_UTR_variant,,ENST00000567723,;LRRC36,3_prime_UTR_variant,,ENST00000565019,;LRRC36,3_prime_UTR_variant,,ENST00000568010,;LRRC36,3_prime_UTR_variant,,ENST00000567823,;	A	ENST00000329956	Transcript	missense_variant	1904/2395	1885/2265	629/754	G/S	Ggt/Agt		1		1	LRRC36	HGNC	HGNC:25615	protein_coding	YES	CCDS32467.1	ENSP00000329943	Q1X8D7		UPI0000409634	NM_018296.5	tolerated(0.26)		12/14		hmmpanther:PTHR23311:SF6,hmmpanther:PTHR23311																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	67378667	67378667	G	A	1	0	0	0	0	1	0	0	0	8884	1000	35	3		3	LRRC36	16	67378667	Missense_Mutation	SNP	G	11LU016_TP	13093568	67378667	22959678	471	527											
HSD11B2	0	.	GRCh38	chr16	67436624	67436624	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtcagtgggaaaagcgcaAgcaattgctgctggccaacc	11	6	14	10	1	1	0	1	0	0	0	1	1	1	1	2	3	5	4	2	3	5	1	novel		11LU016_TP	11LU016_NB	A	A																c.839A>T	p.Lys280Met	p.K280M	ENST00000326152	5/5	428	401	27	331	331	0	strelka-varscan-mutect	HSD11B2,missense_variant,p.Lys280Met,ENST00000326152,NM_000196.3;ATP6V0D1,downstream_gene_variant,,ENST00000290949,NM_004691.4;ATP6V0D1,downstream_gene_variant,,ENST00000602876,;ATP6V0D1,downstream_gene_variant,,ENST00000540149,;ATP6V0D1,downstream_gene_variant,,ENST00000565835,;ATP6V0D1,downstream_gene_variant,,ENST00000564615,;ATP6V0D1,downstream_gene_variant,,ENST00000567694,;HSD11B2,downstream_gene_variant,,ENST00000567684,;ATP6V0D1,downstream_gene_variant,,ENST00000568620,;ATP6V0D1,downstream_gene_variant,,ENST00000563305,;ATP6V0D1,downstream_gene_variant,,ENST00000426604,;ATP6V0D1,downstream_gene_variant,,ENST00000563064,;ATP6V0D1,downstream_gene_variant,,ENST00000564191,;ATP6V0D1,downstream_gene_variant,,ENST00000566322,;ATP6V0D1,downstream_gene_variant,,ENST00000561852,;HSD11B2,downstream_gene_variant,,ENST00000566606,;ATP6V0D1,downstream_gene_variant,,ENST00000567170,;ATP6V0D1,downstream_gene_variant,,ENST00000564788,;HSD11B2,downstream_gene_variant,,ENST00000569303,;	T	ENST00000326152	Transcript	missense_variant	971/1900	839/1218	280/405	K/M	aAg/aTg		1		1	HSD11B2	HGNC	HGNC:5209	protein_coding	YES	CCDS10837.1	ENSP00000316786	P80365		UPI000014185A	NM_000196.3	deleterious(0.04)		5/5		Gene3D:3.40.50.720,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	67436624	67436624	A	T	1	0	0	0	0	1	0	0	0	7272	72	3	4		4	HSD11B2	16	67436624	Missense_Mutation	SNP	A	11LU016_TP	57957	67436624	22901721	472	528											
GFOD2	0	.	GRCh38	chr16	67675915	67675915	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccgaaatcagctgtttcAtgcgcacgaaggcaggcagg	10	8	13	10	3	2	0	2	0	0	0	3	2	3	0	1	3	2	6	1	3	2	2	novel		11LU016_TP	11LU016_NB	A	A																c.398T>A	p.Met133Lys	p.M133K	ENST00000268797	3/3	312	243	69	312	312	0	strelka-varscan-mutect	GFOD2,missense_variant,p.Met133Lys,ENST00000268797,NM_030819.3;GFOD2,3_prime_UTR_variant,,ENST00000602377,;GFOD2,3_prime_UTR_variant,,ENST00000602627,;GFOD2,downstream_gene_variant,,ENST00000602279,NM_001243650.1;GFOD2,non_coding_transcript_exon_variant,,ENST00000602522,;GFOD2,downstream_gene_variant,,ENST00000602496,;	T	ENST00000268797	Transcript	missense_variant	744/2126	398/1158	133/385	M/K	aTg/aAg		1		-1	GFOD2	HGNC	HGNC:28159	protein_coding	YES	CCDS10845.1	ENSP00000268797	Q3B7J2		UPI000013D7DD	NM_030819.3	deleterious(0)		3/3		Gene3D:3.40.50.720,hmmpanther:PTHR22604,hmmpanther:PTHR22604:SF90,Superfamily_domains:SSF51735,Superfamily_domains:SSF55347																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	67675915	67675915	A	T	1	0	0	0	0	1	0	0	0	6218	217	8	4		4	GFOD2	16	67675915	Missense_Mutation	SNP	A	11LU016_TP	239291	67675915	22662430	473	529											
DPEP3	0	.	GRCh38	chr16	67980419	67980419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagcctgggaggagcaGgcgatgggcagaggccgaca	9	2	21	9	3	0	1	0	0	0	1	0	6	0	4	2	6	2	2	2	6	0	0	novel		11LU016_TP	11LU016_NB	G	G																c.37C>A	p.Leu13Met	p.L13M	ENST00000268793	1/10	21	17	4	38	38	0	strelka-varscan-mutect	DPEP3,missense_variant,p.Leu13Met,ENST00000268793,NM_022357.3,NM_001129758.1;DPEP3,non_coding_transcript_exon_variant,,ENST00000574342,;	T	ENST00000268793	Transcript	missense_variant	411/2018	37/1542	13/513	L/M	Ctg/Atg		1		-1	DPEP3	HGNC	HGNC:23029	protein_coding	YES	CCDS10856.1	ENSP00000268793	Q9H4B8		UPI000006F093	NM_022357.3,NM_001129758.1	tolerated_low_confidence(0.15)		1/10		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	67980419	67980419	G	T	1	0	0	0	0	1	0	0	0	4529	991	35	2		2	DPEP3	16	67980419	Missense_Mutation	SNP	G	11LU016_TP	304504	67980419	22357926	474	530											
SF3B3	0	.	GRCh38	chr16	70568382	70568382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggttcgctacaagcgtaatGaaaaccagcttatcatcttt	12	12	8	9	2	2	1	1	1	1	0	3	1	2	1	1	1	4	4	1	1	6	5	novel		11LU016_TP	11LU016_NB	G	G																c.3052G>A	p.Glu1018Lys	p.E1018K	ENST00000302516	22/26	399	329	70	287	285	2	strelka-varscan-mutect	SF3B3,missense_variant,p.Glu1018Lys,ENST00000302516,NM_012426.4;SF3B3,downstream_gene_variant,,ENST00000563739,;SF3B3,upstream_gene_variant,,ENST00000565990,;SF3B3,downstream_gene_variant,,ENST00000562722,;SF3B3,downstream_gene_variant,,ENST00000568539,;	A	ENST00000302516	Transcript	missense_variant	3263/9720	3052/3654	1018/1217	E/K	Gaa/Aaa		1		1	SF3B3	HGNC	HGNC:10770	protein_coding	YES	CCDS10894.1	ENSP00000305790	Q15393		UPI0000167878	NM_012426.4	deleterious(0.01)		22/26		hmmpanther:PTHR10644:SF1,hmmpanther:PTHR10644,Pfam_domain:PF03178,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	70568382	70568382	G	A	1	0	0	0	0	1	0	0	0	14430	1291	45	3		3	SF3B3	16	70568382	Missense_Mutation	SNP	G	11LU016_TP	2587963	70568382	19769963	475	531											
DHX38	0	.	GRCh38	chr16	72096184	72096184	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaccagtgaggatgcctcGatccatcgattggaaggcac	11	7	12	11	2	0	1	0	1	0	0	3	6	1	3	3	3	1	1	3	3	1	1	novel		11LU016_TP	11LU016_NB	G	G																c.27G>T	p.=	p.S9S	ENST00000268482	2/27	91	72	19	81	81	0	strelka-varscan-mutect	DHX38,synonymous_variant,p.=,ENST00000268482,NM_014003.3;DHX38,synonymous_variant,p.=,ENST00000566794,;DHX38,synonymous_variant,p.=,ENST00000566489,;TXNL4B,upstream_gene_variant,,ENST00000268483,NM_017853.2;TXNL4B,upstream_gene_variant,,ENST00000423037,NM_001142317.1;TXNL4B,upstream_gene_variant,,ENST00000426362,NM_001142318.1;TXNL4B,upstream_gene_variant,,ENST00000562153,;TXNL4B,upstream_gene_variant,,ENST00000569767,;DHX38,synonymous_variant,p.=,ENST00000579387,;DHX38,upstream_gene_variant,,ENST00000563650,;DHX38,upstream_gene_variant,,ENST00000564307,;TXNL4B,upstream_gene_variant,,ENST00000565171,;DHX38,upstream_gene_variant,,ENST00000566329,;	T	ENST00000268482	Transcript	synonymous_variant	536/4608	27/3684	9/1227	S	tcG/tcT		1		1	DHX38	HGNC	HGNC:17211	protein_coding	YES	CCDS10907.1	ENSP00000268482	Q92620		UPI000002FBFE	NM_014003.3			2/27																			LOW	1	SNV	1			1										PASS		rs985771779	.												T	2	4	2	72096184	72096184	G	T	1	0	0	0	0	0	0	0	1	4315	1045	37	1		1	DHX38	16	72096184	Silent	SNP	G	11LU016_TP	1527802	72096184	18242161	476	532											
CNTNAP4	0	.	GRCh38	chr16	76498673	76498673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcagcttataaactggggCctctgctctgccagggagac	10	8	12	11	0	2	1	0	0	2	1	2	2	2	1	2	3	5	3	2	3	4	2	novel		11LU016_TP	11LU016_NB	C	C																c.2344C>T	p.Pro782Ser	p.P782S	ENST00000611870	15/24	100	81	19	91	91	0	strelka-varscan-mutect	CNTNAP4,missense_variant,p.Pro782Ser,ENST00000307431,;CNTNAP4,missense_variant,p.Pro782Ser,ENST00000611870,NM_033401.3;CNTNAP4,missense_variant,p.Pro734Ser,ENST00000377504,;CNTNAP4,missense_variant,p.Pro785Ser,ENST00000476707,;CNTNAP4,missense_variant,p.Pro734Ser,ENST00000622250,;CNTNAP4,missense_variant,p.Pro709Ser,ENST00000478060,NM_138994.3;CNTNAP4,downstream_gene_variant,,ENST00000471618,;	T	ENST00000611870	Transcript	missense_variant	2729/4867	2344/3927	782/1308	P/S	Cct/Tct		1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3	tolerated(0.05)		15/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659																	MODERATE	1	SNV	1			1										PASS		rs1273799729	.												T	3	4	2	76498673	76498673	C	T	1	0	0	0	0	1	0	0	0	3431	739	26	3		3	CNTNAP4	16	76498673	Missense_Mutation	SNP	C	11LU016_TP	4402489	76498673	13839672	477	533											
SDR42E1	0	.	GRCh38	chr16	81999281	81999281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggaggtcaaatggctgagCcttataacctagctctttct	9	13	9	10	0	3	1	1	1	2	0	3	2	3	2	2	3	3	2	2	3	4	4	novel		11LU016_TP	11LU016_NB	C	C																c.1012G>C	p.Ala338Pro	p.A338P	ENST00000328945	3/3	363	291	72	376	376	0	strelka-varscan-mutect	SDR42E1,missense_variant,p.Ala338Pro,ENST00000328945,NM_145168.2;SDR42E1,downstream_gene_variant,,ENST00000532128,;SDR42E1,downstream_gene_variant,,ENST00000534209,;	G	ENST00000328945	Transcript	missense_variant	1140/11566	1012/1182	338/393	A/P	Gct/Cct		1		-1	SDR42E1	HGNC	HGNC:29834	protein_coding	YES	CCDS42205.1	ENSP00000332407	Q8WUS8		UPI000003F552	NM_145168.2	tolerated(1)		3/3		hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF317,Gene3D:3.40.50.720,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	81999281	81999281	C	G	1	0	0	0	0	1	0	0	0	14248	739	26	4		4	SDR42E1	16	81999281	Missense_Mutation	SNP	C	11LU016_TP	5500608	81999281	8339064	478	534											
IRF8	0	.	GRCh38	chr16	85918702	85918702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcggctgtgccagggccGcgtgttctgcagcggcaacg	6	6	16	13	5	1	0	0	0	1	0	1	0	1	0	2	3	5	4	2	3	2	1	novel		11LU016_TP	11LU016_NB	G	G																c.887G>T	p.Arg296Leu	p.R296L	ENST00000268638	7/9	258	224	34	309	308	1	strelka-varscan-mutect	IRF8,missense_variant,p.Arg296Leu,ENST00000268638,NM_002163.2;IRF8,missense_variant,p.Arg296Leu,ENST00000564803,;IRF8,missense_variant,p.Arg92Leu,ENST00000562492,;IRF8,missense_variant,p.Arg92Leu,ENST00000569607,;IRF8,intron_variant,,ENST00000566369,;IRF8,downstream_gene_variant,,ENST00000569145,;MIR6774,downstream_gene_variant,,ENST00000614651,;	T	ENST00000268638	Transcript	missense_variant	1309/3030	887/1281	296/426	R/L	cGc/cTc		1		1	IRF8	HGNC	HGNC:5358	protein_coding	YES	CCDS10956.1	ENSP00000268638	Q02556		UPI000012D188	NM_002163.2	deleterious(0)		7/9		hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF7,Gene3D:2.60.200.10,Pfam_domain:PF10401,SMART_domains:SM01243,Superfamily_domains:SSF49879																	MODERATE	1	SNV	1			1										PASS		rs1408985036	.												T	3	4	2	85918702	85918702	G	T	1	0	0	0	0	1	0	0	0	7743	1087	38	1		1	IRF8	16	85918702	Missense_Mutation	SNP	G	11LU016_TP	3919421	85918702	4419643	479	535											
FOXL1	0	.	GRCh38	chr16	86579247	86579247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagccggaggcggggagcgGggcagggggctcgggccccg	4	1	24	12	5	0	0	0	0	0	0	1	2	0	2	3	9	2	3	3	9	0	0	novel		11LU016_TP	11LU016_NB	G	G																c.524G>T	p.Gly175Val	p.G175V	ENST00000320241	1/1	51	40	11	103	103	0	strelka-varscan-mutect	FOXL1,missense_variant,p.Gly175Val,ENST00000320241,NM_005250.2;FOXL1,downstream_gene_variant,,ENST00000593625,;	T	ENST00000320241	Transcript	missense_variant	742/3655	524/1038	175/345	G/V	gGg/gTg		1		1	FOXL1	HGNC	HGNC:3817	protein_coding	YES	CCDS10959.1	ENSP00000326272	Q12952		UPI000012ADE2	NM_005250.2	tolerated(0.25)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF204																	MODERATE	1	SNV				1										PASS		rs1045302700	.												T	3	4	2	86579247	86579247	G	T	1	0	0	0	0	1	0	0	0	5879	1232	43	2		2	FOXL1	16	86579247	Missense_Mutation	SNP	G	11LU016_TP	660545	86579247	3759098	480	536											
JPH3	0	.	GRCh38	chr16	87690096	87690096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagcggcggacggagtcacCccccgtgttcacgtggactt	6	7	15	13	5	2	0	2	0	0	0	2	4	2	4	3	5	1	1	3	5	0	2	novel		11LU016_TP	11LU016_NB	C	C																c.1736C>A	p.Pro579His	p.P579H	ENST00000284262	4/5	209	190	19	255	255	0	strelka-varscan-mutect	JPH3,missense_variant,p.Pro579His,ENST00000284262,NM_020655.3;RP11-278A23.1,downstream_gene_variant,,ENST00000538868,;JPH3,non_coding_transcript_exon_variant,,ENST00000563609,;JPH3,non_coding_transcript_exon_variant,,ENST00000537256,;	A	ENST00000284262	Transcript	missense_variant	1978/3985	1736/2247	579/748	P/H	cCc/cAc		1		1	JPH3	HGNC	HGNC:14203	protein_coding	YES	CCDS10962.1	ENSP00000284262	Q8WXH2		UPI000012DAC4	NM_020655.3	tolerated(0.36)		4/5		PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF7																	MODERATE	1	SNV	1			1										PASS		rs1466880630	.												A	3	1	2	87690096	87690096	C	A	1	0	0	0	0	1	0	0	0	7874	623	22	2		2	JPH3	16	87690096	Missense_Mutation	SNP	C	11LU016_TP	1110849	87690096	2648249	481	537											
CBFA2T3	0	.	GRCh38	chr16	88885223	88885223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcatggccgtttgctgaGgtgctcggggtgcagcgggt	3	10	20	8	3	0	1	0	1	0	0	1	1	0	1	1	6	5	5	1	6	0	1	novel		11LU016_TP	11LU016_NB	G	G																c.940C>A	p.Leu314Ile	p.L314I	ENST00000268679	7/12	53	48	5	49	49	0	strelka-varscan-mutect	CBFA2T3,missense_variant,p.Leu314Ile,ENST00000268679,NM_005187.5;CBFA2T3,missense_variant,p.Leu228Ile,ENST00000327483,NM_175931.2;CBFA2T3,missense_variant,p.Leu253Ile,ENST00000569464,;RP11-830F9.5,intron_variant,,ENST00000565053,;RP11-830F9.5,downstream_gene_variant,,ENST00000569249,;RP11-830F9.5,downstream_gene_variant,,ENST00000562574,;RP11-830F9.5,downstream_gene_variant,,ENST00000562405,;CBFA2T3,upstream_gene_variant,,ENST00000563856,;CBFA2T3,upstream_gene_variant,,ENST00000566868,;	T	ENST00000268679	Transcript	missense_variant	1337/4477	940/1962	314/653	L/I	Ctc/Atc		1		-1	CBFA2T3	HGNC	HGNC:1537	protein_coding	YES	CCDS10972.1	ENSP00000268679	O75081		UPI0000167F93	NM_005187.5	tolerated(0.37)		7/12		hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	88885223	88885223	G	T	1	0	0	0	0	1	0	0	0	2399	1000	35	2		2	CBFA2T3	16	88885223	Missense_Mutation	SNP	G	11LU016_TP	1195127	88885223	1453122	482	538											
PRDM7	0	.	GRCh38	chr16	90060529	90060529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaccagcagttcacagcctgGcctaatgactcggcaggttc	9	8	11	13	1	1	1	1	1	0	0	3	2	1	1	3	3	2	4	3	3	1	3	novel		11LU016_TP	11LU016_NB	G	G																c.1045C>A	p.Pro349Thr	p.P349T	ENST00000449207	9/10	616	561	55	655	654	1	varscan-mutect	PRDM7,missense_variant,p.Pro349Thr,ENST00000449207,NM_001098173.1;PRDM7,intron_variant,,ENST00000325921,;PRDM7,downstream_gene_variant,,ENST00000564210,;PRDM7,downstream_gene_variant,,ENST00000568473,;	T	ENST00000449207	Transcript	missense_variant	1065/2008	1045/1479	349/492	P/T	Cca/Aca		1		-1	PRDM7	HGNC	HGNC:9351	protein_coding	YES	CCDS45557.1	ENSP00000396732	Q9NQW5		UPI00015294E9	NM_001098173.1	tolerated(0.07)		9/10		PROSITE_profiles:PS50280,hmmpanther:PTHR16515:SF10,hmmpanther:PTHR16515,Gene3D:2.170.270.10																	MODERATE	1	SNV	1			1										PASS		rs1173180580	.												T	3	4	2	90060529	90060529	G	T	1	0	0	0	0	1	0	0	0	12593	1203	42	2		2	PRDM7	16	90060529	Missense_Mutation	SNP	G	11LU016_TP	1175306	90060529	277816	483	539											
ABR	0	.	GRCh38	chr17	1007171	1007171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgccagggtacctgcgcCatgacgtcatgggaccagat	8	7	14	12	3	1	2	1	1	0	1	1	3	1	3	4	3	3	1	4	3	1	1	novel		11LU016_TP	11LU016_NB	C	C																c.2484G>T	p.Met828Ile	p.M828I	ENST00000302538	22/23	76	64	12	88	88	0	strelka-varscan-mutect	ABR,missense_variant,p.Met782Ile,ENST00000544583,NM_001159746.2;ABR,missense_variant,p.Met828Ile,ENST00000302538,NM_001322840.1,NM_021962.4;ABR,missense_variant,p.Met840Ile,ENST00000574437,;ABR,missense_variant,p.Met791Ile,ENST00000291107,NM_001092.4;ABR,missense_variant,p.Met610Ile,ENST00000536794,NM_001282149.1;ABR,missense_variant,p.Met279Ile,ENST00000543210,NM_001256847.2;ABR,missense_variant,p.Met153Ile,ENST00000571797,;ABR,intron_variant,,ENST00000572441,;TIMM22,downstream_gene_variant,,ENST00000327158,NM_013337.2;ABR,non_coding_transcript_exon_variant,,ENST00000573559,;ABR,downstream_gene_variant,,ENST00000577052,;ABR,downstream_gene_variant,,ENST00000571383,;ABR,downstream_gene_variant,,ENST00000571022,;ABR,non_coding_transcript_exon_variant,,ENST00000572585,;ABR,downstream_gene_variant,,ENST00000572152,;ABR,downstream_gene_variant,,ENST00000570688,;ABR,downstream_gene_variant,,ENST00000572650,;ABR,downstream_gene_variant,,ENST00000571120,;	A	ENST00000302538	Transcript	missense_variant	2631/5289	2484/2580	828/859	M/I	atG/atT		1		-1	ABR	HGNC	HGNC:81	protein_coding	YES	CCDS10999.1	ENSP00000303909	Q12979		UPI00001AED3D	NM_001322840.1,NM_021962.4	deleterious(0.03)		22/23		PROSITE_profiles:PS50238,hmmpanther:PTHR23182,hmmpanther:PTHR23182:SF5,SMART_domains:SM00324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	1007171	1007171	C	A	1	0	0	0	0	1	0	0	0	108	594	21	2		2	ABR	17	1007171	Missense_Mutation	SNP	C	11LU016_TP		1007171	82250270	484	540											
TP53	0	.	GRCh38	chr17	7674202	7674202	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcttccagtgtgatgAtggtgaggatgggcctccgg	6	11	17	7	1	1	3	0	3	1	0	3	5	3	5	3	5	0	0	3	5	0	1			11LU016_TP	11LU016_NB	A	A																c.761T>C	p.Ile254Thr	p.I254T	ENST00000269305	7/11	262	201	61	256	255	1	strelka-varscan-mutect	TP53,missense_variant,p.Ile254Thr,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Ile254Thr,ENST00000420246,;TP53,missense_variant,p.Ile215Thr,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Ile215Thr,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Ile254Thr,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Ile215Thr,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Ile254Thr,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Ile215Thr,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Ile254Thr,ENST00000445888,;TP53,missense_variant,p.Ile215Thr,ENST00000619485,;TP53,missense_variant,p.Ile122Thr,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Ile95Thr,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Ile122Thr,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Ile95Thr,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Ile122Thr,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Ile95Thr,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Ile254Thr,ENST00000359597,;TP53,missense_variant,p.Ile243Thr,ENST00000615910,;TP53,missense_variant,p.Ile254Thr,ENST00000413465,;TP53,missense_variant,p.Ile122Thr,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Ile215Thr,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	G	ENST00000269305	Transcript	missense_variant	951/2579	761/1182	254/393	I/T	aTc/aCc	TP53_g.13398T>A,TP53_g.13398T>C,TP53_g.13398T>G,COSM1230106,COSM1230107,COSM1725383,COSM1725384,COSM1725385,COSM2744574,COSM3403259,COSM44058,COSM4423302,COSM4423303,COSM4423304,COSM4423305,COSM44535,COSM45035	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386											0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs1330865474	.												G	3	3	2	7674202	7674202	A	G	1	0	0	0	0	1	0	0	0	16859	333	12	5		5	TP53	17	7674202	Missense_Mutation	SNP	A	11LU016_TP	6667031	7674202	75583239	485	541											
MFSD6L	0	.	GRCh38	chr17	8797618	8797618	+	Frame_Shift_Del	DEL	C	C	-																															ctgcccaggctacagccactCccgtaaaagtggcctcggaa																								novel		11LU016_TP	11LU016_NB	C	C																c.1503delG	p.Ser502ValfsTer14	p.S502Vfs*14	ENST00000329805	1/1	149	93	56	171	171	0	sindel-varindel	MFSD6L,frameshift_variant,p.Ser502ValfsTer14,ENST00000329805,NM_152599.3;	-	ENST00000329805	Transcript	frameshift_variant	1732/2188	1503/1761	501/586	G/X	ggG/gg		1		-1	MFSD6L	HGNC	HGNC:26656	protein_coding	YES	CCDS11146.1	ENSP00000330051	Q8IWD5		UPI0000141B5F	NM_152599.3			1/1		hmmpanther:PTHR16172:SF22,hmmpanther:PTHR16172,Pfam_domain:PF12832,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	HIGH	1	deletion				1										PASS		.	.												-	7	5	2	8797618	8797618	C	-	1	0	1	0	1	0	0	0	0	9494	842	30	0		0	MFSD6L	17	8797618	Frame_Shift_Del	DEL	C	11LU016_TP	1123416	8797618	74459823	486	542	13	2									
MFSD6L	0	.	GRCh38	chr17	8797621	8797621	+	Nonsense_Mutation	SNP	G	G	T																															cccaggctacagccactcccGtaaaagtggcctcggaacaa																								rs749850262		11LU016_TP	11LU016_NB	G	G																c.1500C>A	p.Tyr500Ter	p.Y500*	ENST00000329805	1/1	173	112	61	181	181	0	strelka-varscan-mutect	MFSD6L,stop_gained,p.Tyr500Ter,ENST00000329805,NM_152599.3;	T	ENST00000329805	Transcript	stop_gained	1729/2188	1500/1761	500/586	Y/*	taC/taA	rs749850262,COSM986366	1		-1	MFSD6L	HGNC	HGNC:26656	protein_coding	YES	CCDS11146.1	ENSP00000330051	Q8IWD5		UPI0000141B5F	NM_152599.3			1/1		hmmpanther:PTHR16172:SF22,hmmpanther:PTHR16172,Pfam_domain:PF12832,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473											0,1						HIGH	1	SNV			0,1	1										PASS		rs749850262	.												T	4	4	2	8797621	8797621	G	T	1	0	0	0	0	0	1	0	0	9494	1140	40	1		1	MFSD6L	17	8797621	Nonsense_Mutation	SNP	G	11LU016_TP	3	8797621	74459820	487	543	13	2									
MYH1	0	.	GRCh38	chr17	10500646	10500646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgattctgtttgcaggcgcGctctctgtgctgtgaggtca	4	14	13	10	2	3	2	1	2	2	0	4	2	3	2	0	2	2	4	0	2	0	2	rs746118240		11LU016_TP	11LU016_NB	G	G																c.3845C>T	p.Ala1282Val	p.A1282V	ENST00000226207	28/40	167	126	41	198	198	0	strelka-varscan-mutect	MYH1,missense_variant,p.Ala1282Val,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000226207	Transcript	missense_variant	3940/6024	3845/5820	1282/1939	A/V	gCg/gTg	rs746118240,COSM5525271	1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3	deleterious(0)		28/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,Superfamily_domains:SSF90257											0,1						MODERATE		SNV	5		0,1	1										PASS		rs746118240	.												A	3	1	2	10500646	10500646	G	A	1	0	0	0	0	1	0	0	0	10029	1087	38	1		1	MYH1	17	10500646	Missense_Mutation	SNP	G	11LU016_TP	1703025	10500646	72756795	488	544											
TMEM199	0	.	GRCh38	chr17	28359351	28359351	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggctggagaagattaagAtacagctggccaatgaggaa	14	6	13	8	1	0	4	0	1	0	3	0	6	0	5	2	4	2	2	2	4	5	2	novel		11LU016_TP	11LU016_NB	A	A																c.322A>G	p.Ile108Val	p.I108V	ENST00000292114	3/6	225	178	47	201	201	0	strelka-varscan-mutect	TMEM199,missense_variant,p.Ile108Val,ENST00000292114,NM_152464.2;TMEM199,5_prime_UTR_variant,,ENST00000395404,;POLDIP2,upstream_gene_variant,,ENST00000540200,NM_015584.4;POLDIP2,upstream_gene_variant,,ENST00000618887,NM_001290145.1;CTB-96E2.2,downstream_gene_variant,,ENST00000555059,;SEBOX,downstream_gene_variant,,ENST00000536498,NM_001080837.3;TMEM199,upstream_gene_variant,,ENST00000585070,;CTB-96E2.7,downstream_gene_variant,,ENST00000577850,;CTB-96E2.3,non_coding_transcript_exon_variant,,ENST00000591482,;TMEM199,non_coding_transcript_exon_variant,,ENST00000581386,;TMEM199,downstream_gene_variant,,ENST00000579762,;TMEM199,missense_variant,p.Ile108Val,ENST00000555264,;TMEM199,3_prime_UTR_variant,,ENST00000580868,;TMEM199,non_coding_transcript_exon_variant,,ENST00000483505,;TMEM199,non_coding_transcript_exon_variant,,ENST00000509083,;TMEM199,upstream_gene_variant,,ENST00000585027,;	G	ENST00000292114	Transcript	missense_variant	412/3148	322/627	108/208	I/V	Ata/Gta		1		1	TMEM199	HGNC	HGNC:18085	protein_coding	YES	CCDS11228.1	ENSP00000292114	Q8N511		UPI0000039EBA	NM_152464.2	tolerated(0.44)		3/6		hmmpanther:PTHR31394,hmmpanther:PTHR31394:SF1,Pfam_domain:PF11712																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	28359351	28359351	A	G	1	0	0	0	0	1	0	0	0	16560	333	12	5		5	TMEM199	17	28359351	Missense_Mutation	SNP	A	11LU016_TP	17858705	28359351	54898090	489	545											
SEZ6	0	.	GRCh38	chr17	28981424	28981424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatggtggtggtagtggtgGtctcctcatcatctcctgaa	6	14	13	8	0	4	2	2	2	2	0	6	2	4	2	2	5	0	1	2	5	2	1	novel		11LU016_TP	11LU016_NB	G	G																c.671C>A	p.Thr224Asn	p.T224N	ENST00000317338	2/17	83	59	24	72	72	0	strelka-varscan-mutect	SEZ6,missense_variant,p.Thr224Asn,ENST00000317338,NM_178860.4;SEZ6,missense_variant,p.Thr224Asn,ENST00000360295,NM_001098635.1;SEZ6,missense_variant,p.Thr224Asn,ENST00000335960,;SEZ6,missense_variant,p.Thr224Asn,ENST00000442608,;SEZ6,missense_variant,p.Thr150Asn,ENST00000540632,NM_001290202.1;SEZ6,downstream_gene_variant,,ENST00000585644,;PIPOX,intron_variant,,ENST00000583215,;PIPOX,intron_variant,,ENST00000580241,;PIPOX,intron_variant,,ENST00000578748,;PIPOX,intron_variant,,ENST00000577182,;PIPOX,intron_variant,,ENST00000580383,;SEZ6,missense_variant,p.Thr57Asn,ENST00000540419,;	T	ENST00000317338	Transcript	missense_variant	1100/4471	671/2985	224/994	T/N	aCc/aAc		1		-1	SEZ6	HGNC	HGNC:15955	protein_coding	YES	CCDS45639.1	ENSP00000312942	Q53EL9		UPI0000049D91	NM_178860.4	deleterious(0.01)		2/17		Low_complexity_(Seg):seg,hmmpanther:PTHR19325:SF92,hmmpanther:PTHR19325																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	28981424	28981424	G	T	1	0	0	0	0	1	0	0	0	14421	1261	44	2		2	SEZ6	17	28981424	Missense_Mutation	SNP	G	11LU016_TP	622073	28981424	54276017	490	546											
SLC6A4	0	.	GRCh38	chr17	30221876	30221876	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtgggaacaaccttcTgtagaactccgttttcctga	8	12	11	10	1	1	2	0	1	1	1	3	3	3	3	3	3	3	2	3	3	4	4	novel		11LU016_TP	11LU016_NB	T	T																c.83A>C	p.Gln28Pro	p.Q28P	ENST00000261707	3/15	464	389	75	453	453	0	strelka-varscan-mutect	SLC6A4,missense_variant,p.Gln28Pro,ENST00000261707,NM_001045.5;SLC6A4,missense_variant,p.Gln28Pro,ENST00000401766,;SLC6A4,missense_variant,p.Gln28Pro,ENST00000394821,;	G	ENST00000261707	Transcript	missense_variant	659/6604	83/1893	28/630	Q/P	cAg/cCg		1		-1	SLC6A4	HGNC	HGNC:11050	protein_coding	YES	CCDS11256.1	ENSP00000261707	P31645		UPI0000135493	NM_001045.5	tolerated(0.25)		3/15		hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF105,Pfam_domain:PF03491,Prints_domain:PR01203																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	30221876	30221876	T	G	1	0	0	0	0	1	0	0	0	14969	1580	55	5		5	SLC6A4	17	30221876	Missense_Mutation	SNP	T	11LU016_TP	1240452	30221876	53035565	491	547											
RHBDL3	0	.	GRCh38	chr17	32294366	32294366	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactcatccacgttacttgAagaactccctggtttaccac	11	12	5	13	1	1	2	1	1	0	1	3	2	3	2	3	1	4	2	3	1	5	5	rs767315929		11LU016_TP	11LU016_NB	A	A																c.592A>G	p.Lys198Glu	p.K198E	ENST00000269051	5/9	203	182	21	229	229	0	strelka-varscan-mutect	RHBDL3,missense_variant,p.Lys198Glu,ENST00000269051,NM_138328.2;RHBDL3,missense_variant,p.Lys100Glu,ENST00000536287,;RHBDL3,missense_variant,p.Lys190Glu,ENST00000538145,;RHBDL3,missense_variant,p.Lys198Glu,ENST00000431505,;RHBDL3,3_prime_UTR_variant,,ENST00000578006,;RHBDL3,non_coding_transcript_exon_variant,,ENST00000582967,;	G	ENST00000269051	Transcript	missense_variant	606/4661	592/1215	198/404	K/E	Aag/Gag	rs767315929,COSM5017202	1		1	RHBDL3	HGNC	HGNC:16502	protein_coding	YES	CCDS32613.1	ENSP00000269051	P58872		UPI0000133858	NM_138328.2	tolerated(0.12)		5/9		hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF14,Gene3D:2xovA00,PIRSF_domain:PIRSF037470,Superfamily_domains:SSF144091											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs767315929	.												G	3	3	2	32294366	32294366	A	G	1	0	0	0	0	1	0	0	0	13495	247	9	5		5	RHBDL3	17	32294366	Missense_Mutation	SNP	A	11LU016_TP	2072490	32294366	50963075	492	548											
SLFN14	0	.	GRCh38	chr17	35549025	35549025	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtttaatctttagaaactcCccttgcatgaaagttttcct	10	17	5	9	0	1	2	0	1	1	1	3	2	3	2	3	0	2	3	3	0	4	7	novel		11LU016_TP	11LU016_NB	C	C																c.1953G>T	p.=	p.G651G	ENST00000415846	4/4	191	146	45	133	133	0	strelka-varscan-mutect	SLFN14,synonymous_variant,p.=,ENST00000415846,NM_001129820.1;RP11-1094M14.12,upstream_gene_variant,,ENST00000588445,;	A	ENST00000415846	Transcript	synonymous_variant	1989/2889	1953/2739	651/912	G	ggG/ggT		1		-1	SLFN14	HGNC	HGNC:32689	protein_coding	YES	CCDS45650.1	ENSP00000391101	P0C7P3		UPI000041A9FB	NM_001129820.1			4/4		hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF30,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	35549025	35549025	C	A	1	0	0	0	0	0	0	0	1	15026	610	22	2		2	SLFN14	17	35549025	Silent	SNP	C	11LU016_TP	3254659	35549025	47708416	493	549											
SLFN14	0	.	GRCh38	chr17	35553355	35553355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaacaaggatgtatcaGggtcttcattaaaccctcca	13	10	8	10	0	3	1	2	1	1	1	4	3	4	2	2	2	2	1	2	2	5	3	novel		11LU016_TP	11LU016_NB	G	G																c.1279C>A	p.Leu427Met	p.L427M	ENST00000415846	3/4	191	148	43	176	176	0	strelka-varscan-mutect	SLFN14,missense_variant,p.Leu427Met,ENST00000415846,NM_001129820.1;RP11-1094M14.12,non_coding_transcript_exon_variant,,ENST00000588445,;	T	ENST00000415846	Transcript	missense_variant	1315/2889	1279/2739	427/912	L/M	Ctg/Atg		1		-1	SLFN14	HGNC	HGNC:32689	protein_coding	YES	CCDS45650.1	ENSP00000391101	P0C7P3		UPI000041A9FB	NM_001129820.1	deleterious(0.02)		3/4		hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF30																	MODERATE	1	SNV	1			1										PASS		rs1244556317	.												T	3	4	2	35553355	35553355	G	T	1	0	0	0	0	1	0	0	0	15026	991	35	2		2	SLFN14	17	35553355	Missense_Mutation	SNP	G	11LU016_TP	4330	35553355	47704086	494	550											
ZPBP2	0	.	GRCh38	chr17	39870727	39870727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagttacatcaaaatagtcCagtccttatctgtatggatt	13	14	7	7	0	2	1	1	0	1	1	4	2	4	2	2	1	1	2	2	1	6	5	rs767043856		11LU016_TP	11LU016_NB	C	C																c.152C>A	p.Pro51Gln	p.P51Q	ENST00000348931	3/8	97	79	18	104	104	0	strelka-varscan-mutect	ZPBP2,missense_variant,p.Pro29Gln,ENST00000377940,NM_198844.2;ZPBP2,missense_variant,p.Pro51Gln,ENST00000348931,NM_199321.2;ZPBP2,missense_variant,p.Pro51Gln,ENST00000584588,;ZPBP2,intron_variant,,ENST00000583811,;	A	ENST00000348931	Transcript	missense_variant	343/1543	152/1017	51/338	P/Q	cCa/cAa	rs767043856	1		1	ZPBP2	HGNC	HGNC:20678	protein_coding	YES	CCDS11352.1	ENSP00000335384	Q6X784		UPI00001D79E4	NM_199321.2	deleterious(0)		3/8		PROSITE_profiles:PS50835,hmmpanther:PTHR15443:SF4,hmmpanther:PTHR15443																	MODERATE	1	SNV	1			1										PASS		rs767043856	.												A	3	1	2	39870727	39870727	C	A	1	0	0	0	0	1	0	0	0	18812	594	21	2		2	ZPBP2	17	39870727	Missense_Mutation	SNP	C	11LU016_TP	4317372	39870727	43386714	495	551											
MSL1	0	.	GRCh38	chr17	40133593	40133593	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgactgcagctcagaatgtAtaaaaagaaaggaattcagg	17	7	11	6	1	2	2	2	0	0	2	2	4	2	3	0	2	2	3	0	2	7	3	novel		11LU016_TP	11LU016_NB	A	A																c.827A>G	p.Tyr276Cys	p.Y276C	ENST00000579565	8/10	141	122	19	115	115	0	strelka-varscan-mutect	MSL1,missense_variant,p.Tyr539Cys,ENST00000398532,;MSL1,missense_variant,p.Tyr523Cys,ENST00000578648,;MSL1,missense_variant,p.Tyr276Cys,ENST00000579565,NM_001012241.1;MSL1,downstream_gene_variant,,ENST00000577454,;MSL1,downstream_gene_variant,,ENST00000582920,;MSL1,non_coding_transcript_exon_variant,,ENST00000339569,;MSL1,non_coding_transcript_exon_variant,,ENST00000580086,;MSL1,non_coding_transcript_exon_variant,,ENST00000583127,;MSL1,downstream_gene_variant,,ENST00000581246,;MSL1,downstream_gene_variant,,ENST00000582884,;	G	ENST00000579565	Transcript	missense_variant	1091/1401	827/1056	276/351	Y/C	tAt/tGt		1		1	MSL1	HGNC	HGNC:27905	protein_coding	YES	CCDS45670.1	ENSP00000462945	Q68DK7		UPI0000DBE498	NM_001012241.1	tolerated(0.18)		8/10		Pfam_domain:PF15275,hmmpanther:PTHR21656,SMART_domains:SM01300																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	40133593	40133593	A	G	1	0	0	0	0	1	0	0	0	9860	449	16	5		5	MSL1	17	40133593	Missense_Mutation	SNP	A	11LU016_TP	262866	40133593	43123848	496	552											
KRT12	0	.	GRCh38	chr17	40866633	40866633	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttaccttattcctgaggTcttcaatcagtggataatat	11	16	6	8	0	4	1	2	1	2	0	5	2	5	2	2	2	1	0	2	2	5	6	novel		11LU016_TP	11LU016_NB	T	T																c.554A>T	p.Asp185Val	p.D185V	ENST00000251643	1/8	224	189	35	217	217	0	strelka-varscan-mutect	KRT12,missense_variant,p.Asp185Val,ENST00000251643,NM_000223.3;RP5-1110E20.1,downstream_gene_variant,,ENST00000579136,;	A	ENST00000251643	Transcript	missense_variant	578/1867	554/1485	185/494	D/V	gAc/gTc		1		-1	KRT12	HGNC	HGNC:6414	protein_coding	YES	CCDS11378.1	ENSP00000251643	Q99456		UPI000012DAE4	NM_000223.3	deleterious(0)		1/8		Gene3D:1.20.1270.60,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF115,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	40866633	40866633	T	A	1	0	0	0	0	1	0	0	0	8331	1667	58	4		4	KRT12	17	40866633	Missense_Mutation	SNP	T	11LU016_TP	733040	40866633	42390808	497	553											
KRTAP9-7	0	.	GRCh38	chr17	41276145	41276145	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgtgagactacctgcTgcaggaccacttgcttccag	7	10	10	14	0	0	1	0	1	0	1	1	3	1	2	4	1	5	4	4	1	1	3	novel		11LU016_TP	11LU016_NB	T	T																c.448T>G	p.Cys150Gly	p.C150G	ENST00000391354	1/1	254	200	54	240	240	0	strelka-varscan-mutect	KRTAP9-7,missense_variant,p.Cys150Gly,ENST00000391354,NM_001277332.1;KRTAP9-11P,downstream_gene_variant,,ENST00000431013,;KRTAP9-10P,upstream_gene_variant,,ENST00000435672,;	G	ENST00000391354	Transcript	missense_variant	487/1039	448/510	150/169	C/G	Tgc/Ggc		1		1	KRTAP9-7	HGNC	HGNC:18915	protein_coding	YES	CCDS59287.1	ENSP00000375149	A8MTY7		UPI0000DD83F7	NM_001277332.1	deleterious(0.01)		1/1		Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF56,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	2	41276145	41276145	T	G	1	0	0	0	0	1	0	0	0	8474	1580	55	5		5	KRTAP9-7	17	41276145	Missense_Mutation	SNP	T	11LU016_TP	409512	41276145	41981296	498	554											
KRT17	0	.	GRCh38	chr17	41624459	41624459	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccgccccccaggccggaGgagcccttgatggagctgga	7	4	16	14	2	0	1	0	1	0	0	0	6	0	5	6	5	3	1	6	5	0	1	novel		11LU016_TP	11LU016_NB	G	G																c.51C>A	p.=	p.S17S	ENST00000311208	1/8	189	174	15	236	236	0	varscan-mutect	KRT17,synonymous_variant,p.=,ENST00000311208,NM_000422.2;KRT17,synonymous_variant,p.=,ENST00000577817,;KRT17,5_prime_UTR_variant,,ENST00000540235,;KRT17,intron_variant,,ENST00000463128,;KRT17,upstream_gene_variant,,ENST00000590038,;KRT42P,downstream_gene_variant,,ENST00000438131,;KRT42P,downstream_gene_variant,,ENST00000398469,;KRT17,non_coding_transcript_exon_variant,,ENST00000491673,;KRT17,upstream_gene_variant,,ENST00000493253,;KRT42P,downstream_gene_variant,,ENST00000587335,;KRT42P,downstream_gene_variant,,ENST00000458343,;	T	ENST00000311208	Transcript	synonymous_variant	119/1524	51/1299	17/432	S	tcC/tcA		1		-1	KRT17	HGNC	HGNC:6427	protein_coding	YES	CCDS11402.1	ENSP00000308452	Q04695		UPI0000148FD6	NM_000422.2			1/8		Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF180,hmmpanther:PTHR23239																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	41624459	41624459	G	T	1	0	0	0	0	0	0	0	1	8336	987	35	2		2	KRT17	17	41624459	Silent	SNP	G	11LU016_TP	348314	41624459	41632982	499	555											
DHX58	0	.	GRCh38	chr17	42103646	42103646	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacatggtgggtgccctcCaccttccgcaggtcgctgcc	4	10	12	15	2	0	1	0	1	0	0	3	1	2	1	5	3	2	2	5	3	0	2	rs371461669		11LU016_TP	11LU016_NB	C	C																c.1716G>T	p.=	p.V572V	ENST00000251642	12/14	221	181	40	453	453	0	strelka-varscan-mutect	DHX58,synonymous_variant,p.=,ENST00000251642,NM_024119.2;DHX58,downstream_gene_variant,,ENST00000413196,;DHX58,non_coding_transcript_exon_variant,,ENST00000586522,;DHX58,non_coding_transcript_exon_variant,,ENST00000590637,;DHX58,intron_variant,,ENST00000589979,;DHX58,upstream_gene_variant,,ENST00000592024,;	A	ENST00000251642	Transcript	synonymous_variant	1939/2617	1716/2037	572/678	V	gtG/gtT	rs371461669	1		-1	DHX58	HGNC	HGNC:29517	protein_coding	YES	CCDS11416.1	ENSP00000251642	Q96C10	A0A024R1Y5	UPI000006ED88	NM_024119.2			12/14		hmmpanther:PTHR14074,hmmpanther:PTHR14074:SF7,Pfam_domain:PF11648																	LOW	1	SNV	1			1										PASS		rs371461669	.												A	2	1	2	42103646	42103646	C	A	1	0	0	0	0	0	0	0	1	4318	581	21	2		2	DHX58	17	42103646	Silent	SNP	C	11LU016_TP	479187	42103646	41153795	500	556											
CCR10	0	.	GRCh38	chr17	42680319	42680319	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcaggtggcacttcccAgactccagccctgaagagcc	8	6	12	15	1	0	3	0	1	0	2	2	3	2	3	4	3	3	2	4	3	1	1	novel		11LU016_TP	11LU016_NB	A	A																c.323T>A	p.Leu108Gln	p.L108Q	ENST00000332438	2/2	199	186	13	212	212	0	strelka-varscan-mutect	CCR10,missense_variant,p.Leu108Gln,ENST00000332438,NM_016602.2;CCR10,5_prime_UTR_variant,,ENST00000591765,;CCR10,5_prime_UTR_variant,,ENST00000591568,;CNTNAP1,upstream_gene_variant,,ENST00000264638,NM_003632.2;PLEKHH3,upstream_gene_variant,,ENST00000293349,;PLEKHH3,upstream_gene_variant,,ENST00000591022,NM_024927.4;PLEKHH3,upstream_gene_variant,,ENST00000587627,;CTD-3193K9.4,non_coding_transcript_exon_variant,,ENST00000593139,;CTD-3193K9.3,downstream_gene_variant,,ENST00000592440,;PLEKHH3,upstream_gene_variant,,ENST00000456950,;PLEKHH3,upstream_gene_variant,,ENST00000591544,;CNTNAP1,upstream_gene_variant,,ENST00000591662,;PLEKHH3,upstream_gene_variant,,ENST00000591490,;PLEKHH3,upstream_gene_variant,,ENST00000591196,;	T	ENST00000332438	Transcript	missense_variant	343/1773	323/1089	108/362	L/Q	cTg/cAg		1		-1	CCR10	HGNC	HGNC:4474	protein_coding	YES	CCDS11435.1	ENSP00000332504	P46092		UPI0000212EE9	NM_016602.2	tolerated(0.06)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF726,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	42680319	42680319	A	T	1	0	0	0	0	1	0	0	0	2640	188	7	4		4	CCR10	17	42680319	Missense_Mutation	SNP	A	11LU016_TP	576673	42680319	40577122	501	557											
FAM171A2	0	.	GRCh38	chr17	44360018	44360018	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagggtggccacacccTctgagtctgtggtgccagct	5	8	16	12	0	2	1	0	1	2	0	2	1	2	1	3	5	2	2	3	5	0	0	novel		11LU016_TP	11LU016_NB	T	T																c.233A>T	p.Glu78Val	p.E78V	ENST00000293443	2/8	196	155	41	226	226	0	strelka-varscan-mutect	FAM171A2,missense_variant,p.Glu78Val,ENST00000293443,NM_198475.2;FAM171A2,missense_variant,p.Glu78Val,ENST00000589407,;FAM171A2,missense_variant,p.Glu78Val,ENST00000588067,;FAM171A2,non_coding_transcript_exon_variant,,ENST00000592560,;RPL7L1P5,downstream_gene_variant,,ENST00000590816,;	A	ENST00000293443	Transcript	missense_variant	394/3160	233/2481	78/826	E/V	gAg/gTg		1		-1	FAM171A2	HGNC	HGNC:30480	protein_coding	YES	CCDS45701.1	ENSP00000293443	A8MVW0		UPI0000E59FC0	NM_198475.2	deleterious(0)		2/8		Pfam_domain:PF10577,hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF3																	MODERATE	1	SNV	1			1										PASS		rs1222637343	.												A	3	1	2	44360018	44360018	T	A	1	0	0	0	0	1	0	0	0	5338	1551	54	4		4	FAM171A2	17	44360018	Missense_Mutation	SNP	T	11LU016_TP	1679699	44360018	38897423	502	558											
SPPL2C	0	.	GRCh38	chr17	45846906	45846906	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccctgggcgggactccAcaagaggaagggtttgaaag	10	6	15	10	1	0	2	0	1	0	1	1	4	1	4	3	4	1	1	3	4	3	1	novel		11LU016_TP	11LU016_NB	A	A																c.2000A>T	p.His667Leu	p.H667L	ENST00000329196	1/1	97	83	14	75	74	1	strelka-varscan-mutect	SPPL2C,missense_variant,p.His667Leu,ENST00000329196,NM_175882.2;MAPT-AS1,intron_variant,,ENST00000634876,;MAPT-AS1,intron_variant,,ENST00000579599,;MAPT-AS1,intron_variant,,ENST00000579244,;MAPT-AS1,upstream_gene_variant,,ENST00000581125,;	T	ENST00000329196	Transcript	missense_variant	2072/2238	2000/2055	667/684	H/L	cAc/cTc		1		1	SPPL2C	HGNC	HGNC:28902	protein_coding	YES	CCDS32673.1	ENSP00000332488	Q8IUH8		UPI0000EE80B4	NM_175882.2	deleterious_low_confidence(0)		1/1																			MODERATE		SNV				1										PASS		.	.												T	3	4	2	45846906	45846906	A	T	1	0	0	0	0	1	0	0	0	15443	159	6	4		4	SPPL2C	17	45846906	Missense_Mutation	SNP	A	11LU016_TP	1486888	45846906	37410535	503	559											
HOXB13	0	.	GRCh38	chr17	48728296	48728296	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtggctgcctgggcacAgggtttcagcgagctccggg	5	7	18	11	2	1	0	1	0	0	0	2	1	2	0	2	5	3	4	2	5	0	1	novel		11LU016_TP	11LU016_NB	A	A																c.298T>A	p.Cys100Ser	p.C100S	ENST00000290295	1/2	328	297	31	388	388	0	strelka-varscan-mutect	HOXB13,missense_variant,p.Cys100Ser,ENST00000290295,NM_006361.5;PRAC2,downstream_gene_variant,,ENST00000422730,NM_001282275.1;PRAC2,downstream_gene_variant,,ENST00000432056,NM_001282276.1;CTD-2377D24.4,upstream_gene_variant,,ENST00000495536,;MIR3185,upstream_gene_variant,,ENST00000583892,;HOXB13-AS1_1,downstream_gene_variant,,ENST00000613209,;HOXB13-AS1_2,downstream_gene_variant,,ENST00000612962,;	T	ENST00000290295	Transcript	missense_variant	883/3467	298/855	100/284	C/S	Tgt/Agt		1		-1	HOXB13	HGNC	HGNC:5112	protein_coding	YES	CCDS11536.1	ENSP00000290295	Q92826		UPI000006F288	NM_006361.5	tolerated(0.16)		1/2		hmmpanther:PTHR24326:SF47,hmmpanther:PTHR24326,Pfam_domain:PF12284																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	48728296	48728296	A	T	1	0	0	0	0	1	0	0	0	7194	188	7	4		4	HOXB13	17	48728296	Missense_Mutation	SNP	A	11LU016_TP	2881390	48728296	34529145	504	560											
KAT7	0	.	GRCh38	chr17	49821652	49821652	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtttctctgcttccagatCtactgccaaaacctgtgcct	7	14	6	14	0	2	1	0	0	2	1	4	1	3	1	4	0	5	2	4	0	3	3	rs763725929		11LU016_TP	11LU016_NB	C	C																c.1248C>G	p.Ile416Met	p.I416M	ENST00000259021	11/15	126	97	29	129	129	0	varscan-mutect	KAT7,missense_variant,p.Ile416Met,ENST00000259021,NM_007067.4;KAT7,missense_variant,p.Ile230Met,ENST00000435742,;KAT7,missense_variant,p.Ile386Met,ENST00000424009,NM_001199155.1;KAT7,missense_variant,p.Ile277Met,ENST00000454930,NM_001199156.1;KAT7,missense_variant,p.Ile306Met,ENST00000509773,NM_001199157.1;KAT7,missense_variant,p.Ile247Met,ENST00000510819,NM_001199158.1;KAT7,splice_region_variant,,ENST00000513980,;KAT7,splice_region_variant,,ENST00000512616,;KAT7,splice_region_variant,,ENST00000513171,;KAT7,splice_region_variant,,ENST00000514540,;KAT7,splice_region_variant,,ENST00000508594,;KAT7,upstream_gene_variant,,ENST00000503101,;KAT7,non_coding_transcript_exon_variant,,ENST00000509794,;KAT7,upstream_gene_variant,,ENST00000503635,;KAT7,upstream_gene_variant,,ENST00000510426,;KAT7,upstream_gene_variant,,ENST00000513075,;	G	ENST00000259021	Transcript	missense_variant,splice_region_variant	1528/9644	1248/1836	416/611	I/M	atC/atG	rs763725929	1		1	KAT7	HGNC	HGNC:17016	protein_coding	YES	CCDS11554.1	ENSP00000259021	O95251		UPI000006D3D5	NM_007067.4	deleterious(0.01)		11/15		PROSITE_profiles:PS51726,hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF111,Pfam_domain:PF01853,Gene3D:3.40.630.30,Superfamily_domains:SSF55729																	MODERATE	1	SNV	1			1										PASS		rs763725929	.												G	3	3	2	49821652	49821652	C	G	1	0	0	0	0	1	0	0	0	7900	927	32	4		4	KAT7	17	49821652	Missense_Mutation	SNP	C	11LU016_TP	1093356	49821652	33435789	505	561											
DLX3	0	.	GRCh38	chr17	49993475	49993475	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtactgggccttctggaaGcggcgctgcagggcggccag	6	6	18	11	3	1	0	0	0	1	0	1	1	1	1	2	6	3	3	2	6	2	2	novel		11LU016_TP	11LU016_NB	G	G																c.441C>A	p.=	p.R147R	ENST00000434704	2/3	265	200	65	218	218	0	strelka-varscan-mutect	DLX3,synonymous_variant,p.=,ENST00000434704,NM_005220.2;DLX3,synonymous_variant,p.=,ENST00000512495,;RP11-1094H24.3,upstream_gene_variant,,ENST00000511867,;	T	ENST00000434704	Transcript	synonymous_variant	667/2602	441/864	147/287	R	cgC/cgA		1		-1	DLX3	HGNC	HGNC:2916	protein_coding	YES	CCDS11556.1	ENSP00000389870	O60479		UPI00001294B0	NM_005220.2			2/3		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF28,SMART_domains:SM00389,Superfamily_domains:SSF46689																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	49993475	49993475	G	T	1	0	0	0	0	0	0	0	1	4379	958	34	2		2	DLX3	17	49993475	Silent	SNP	G	11LU016_TP	171823	49993475	33263966	506	562											
CA10	0	.	GRCh38	chr17	51747739	51747739	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggctgtatgtcatgggcCctccagatatgttgaccaag	8	11	13	9	0	1	2	1	1	0	1	2	2	2	2	3	3	0	3	3	3	3	3			11LU016_TP	11LU016_NB	C	C																c.359G>T	p.Gly120Val	p.G120V	ENST00000451037	4/9	164	134	30	189	189	0	strelka-varscan-mutect	CA10,missense_variant,p.Gly120Val,ENST00000451037,NM_020178.4;CA10,missense_variant,p.Gly120Val,ENST00000442502,NM_001082534.1;CA10,missense_variant,p.Gly120Val,ENST00000285273,NM_001082533.1;CA10,missense_variant,p.Gly45Val,ENST00000570565,;CA10,missense_variant,p.Gly120Val,ENST00000575181,;CA10,missense_variant,p.Gly17Val,ENST00000575097,;CA10,non_coding_transcript_exon_variant,,ENST00000571918,;CA10,3_prime_UTR_variant,,ENST00000571371,;	A	ENST00000451037	Transcript	missense_variant	1300/3189	359/987	120/328	G/V	gGg/gTg	COSM1630294	1		-1	CA10	HGNC	HGNC:1369	protein_coding	YES	CCDS32684.1	ENSP00000405388	Q9NS85		UPI000000167C	NM_020178.4	deleterious(0)		4/9		PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF91,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057,Superfamily_domains:SSF51069											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	2	51747739	51747739	C	A	1	0	0	0	0	1	0	0	0	2197	623	22	2		2	CA10	17	51747739	Missense_Mutation	SNP	C	11LU016_TP	1754264	51747739	31509702	507	563											
HELZ	0	.	GRCh38	chr17	67078296	67078296	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctgccagatgagctccCtaggctcagttcctggaaga	9	10	11	11	0	1	3	1	1	0	2	3	4	3	4	3	2	3	4	3	2	2	3	novel		11LU016_TP	11LU016_NB	C	C																c.5785G>T	p.Gly1929Trp	p.G1929W	ENST00000358691	33/33	286	230	56	245	245	0	strelka-varscan-mutect	HELZ,missense_variant,p.Gly1929Trp,ENST00000358691,NM_014877.3;HELZ,missense_variant,p.Gly1930Trp,ENST00000580168,;HELZ,3_prime_UTR_variant,,ENST00000579953,;	A	ENST00000358691	Transcript	missense_variant	5952/13810	5785/5829	1929/1942	G/W	Ggg/Tgg		1		-1	HELZ	HGNC	HGNC:16878	protein_coding	YES	CCDS42374.1	ENSP00000351524	P42694		UPI000013D7F5	NM_014877.3	deleterious_low_confidence(0)		33/33		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF365,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	67078296	67078296	C	A	1	0	0	0	0	1	0	0	0	6931	681	24	2		2	HELZ	17	67078296	Missense_Mutation	SNP	C	11LU016_TP	15330557	67078296	16179145	508	564											
ABCA10	0	.	GRCh38	chr17	69152045	69152045	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accgaaaacatcctttacctTtcctgccaagcagcctgtgg	10	10	7	14	1	0	0	0	0	0	0	2	1	2	0	6	1	5	1	6	1	4	3	novel		11LU016_TP	11LU016_NB	T	T																c.4395A>T	p.Glu1465Asp	p.E1465D	ENST00000269081	37/40	69	50	19	53	53	0	strelka-varscan-mutect	ABCA10,missense_variant,p.Glu1465Asp,ENST00000269081,NM_080282.3;ABCA10,upstream_gene_variant,,ENST00000521538,;ABCA10,upstream_gene_variant,,ENST00000522787,;ABCA10,splice_region_variant,,ENST00000519732,;ABCA10,splice_region_variant,,ENST00000522406,;ABCA10,splice_region_variant,,ENST00000518929,;ABCA10,splice_region_variant,,ENST00000523419,;ABCA10,upstream_gene_variant,,ENST00000524231,;ABCA10,upstream_gene_variant,,ENST00000588514,;	A	ENST00000269081	Transcript	missense_variant,splice_region_variant	5305/6362	4395/4632	1465/1543	E/D	gaA/gaT		1		-1	ABCA10	HGNC	HGNC:30	protein_coding	YES	CCDS11684.1	ENSP00000269081	Q8WWZ4		UPI000013D7F6	NM_080282.3	tolerated(0.06)		37/40		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF140																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	69152045	69152045	T	A	1	0	0	0	0	1	0	0	0	33	1855	64	4		4	ABCA10	17	69152045	Missense_Mutation	SNP	T	11LU016_TP	2073749	69152045	14105396	509	565											
SEC14L1	0	.	GRCh38	chr17	77194898	77194898	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgcacctgagcccgtggtGggcacccctgacggtgggtc	5	6	16	14	3	0	2	0	2	0	0	1	2	0	2	4	4	2	2	4	4	0	0	novel		11LU016_TP	11LU016_NB	G	G																c.696G>T	p.=	p.V232V	ENST00000392476	9/20	187	145	42	153	152	1	strelka-varscan-mutect	SEC14L1,synonymous_variant,p.=,ENST00000436233,NM_001143999.1,NM_003003.3,NM_001143998.1;SEC14L1,synonymous_variant,p.=,ENST00000430767,NM_001204410.1;SEC14L1,synonymous_variant,p.=,ENST00000392476,NM_001204408.1;SEC14L1,synonymous_variant,p.=,ENST00000443798,NM_001039573.2;SEC14L1,synonymous_variant,p.=,ENST00000591437,;SEC14L1,synonymous_variant,p.=,ENST00000585618,;SEC14L1,synonymous_variant,p.=,ENST00000431431,NM_001144001.1;SEC14L1,synonymous_variant,p.=,ENST00000589827,;SEC14L1,synonymous_variant,p.=,ENST00000589202,;SEC14L1,downstream_gene_variant,,ENST00000587820,;SEC14L1,downstream_gene_variant,,ENST00000588616,;SEC14L1,downstream_gene_variant,,ENST00000586429,;SEC14L1,downstream_gene_variant,,ENST00000590483,;SEC14L1,downstream_gene_variant,,ENST00000586390,;SEC14L1,downstream_gene_variant,,ENST00000591786,;CYCSP40,downstream_gene_variant,,ENST00000575927,;	T	ENST00000392476	Transcript	synonymous_variant	1255/2957	696/2160	232/719	V	gtG/gtT		1		1	SEC14L1	HGNC	HGNC:10698	protein_coding	YES	CCDS42385.1	ENSP00000376268	Q92503		UPI00006AB82A	NM_001204408.1			9/20		Superfamily_domains:SSF46938																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	2	77194898	77194898	G	T	1	0	0	0	0	0	0	0	1	14257	1335	47	2		2	SEC14L1	17	77194898	Silent	SNP	G	11LU016_TP	8042853	77194898	6062543	510	566											
NOTUM	0	.	GRCh38	chr17	81957060	81957060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtccacattcaggagcaccCcggtgccccccgcgctgcaa	7	5	11	18	3	1	0	1	0	0	0	2	1	2	1	6	3	3	3	6	3	1	1	novel		11LU016_TP	11LU016_NB	C	C																c.710G>T	p.Gly237Val	p.G237V	ENST00000409678	7/11	74	53	21	78	78	0	strelka-varscan-mutect	NOTUM,missense_variant,p.Gly237Val,ENST00000409678,NM_178493.5;NOTUM,missense_variant,p.Gly237Val,ENST00000425009,;NOTUM,missense_variant,p.Gly95Val,ENST00000477214,;NOTUM,downstream_gene_variant,,ENST00000489218,;	A	ENST00000409678	Transcript	missense_variant	1094/2329	710/1491	237/496	G/V	gGg/gTg		1		-1	NOTUM	HGNC	HGNC:27106	protein_coding	YES	CCDS32771.2	ENSP00000387310	Q6P988		UPI000004EE80	NM_178493.5	deleterious(0)		7/11		Low_complexity_(Seg):seg,hmmpanther:PTHR21562,hmmpanther:PTHR21562:SF7,Pfam_domain:PF03283																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	81957060	81957060	C	A	1	0	0	0	0	1	0	0	0	10598	623	22	2		2	NOTUM	17	81957060	Missense_Mutation	SNP	C	11LU016_TP	4762162	81957060	1300381	511	567											
ENOSF1	0	.	GRCh38	chr18	690575	690575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caacgtgtcatctgagtaccCcagccaggcgcacgatgtcg	9	7	11	14	4	2	1	1	1	1	0	3	2	2	1	3	1	3	2	3	1	2	1	novel		11LU016_TP	11LU016_NB	C	C																c.655G>T	p.Gly219Trp	p.G219W	ENST00000340116	8/15	245	196	49	342	341	1	strelka-varscan-mutect	ENOSF1,missense_variant,p.Gly116Trp,ENST00000383578,NM_001318759.1,NM_001126123.3;ENOSF1,missense_variant,p.Gly198Trp,ENST00000251101,NM_017512.5;ENOSF1,missense_variant,p.Gly219Trp,ENST00000340116,NM_202758.3;ENOSF1,missense_variant,p.Gly122Trp,ENST00000580982,;ENOSF1,missense_variant,p.Gly96Trp,ENST00000583771,;ENOSF1,upstream_gene_variant,,ENST00000583973,;ENOSF1,downstream_gene_variant,,ENST00000580605,;ENOSF1,missense_variant,p.Trp198Cys,ENST00000581475,NM_001318760.1;ENOSF1,missense_variant,p.Trp173Cys,ENST00000584453,;ENOSF1,3_prime_UTR_variant,,ENST00000585128,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000584259,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000585004,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000579053,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000578651,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000577334,;ENOSF1,upstream_gene_variant,,ENST00000582745,;ENOSF1,upstream_gene_variant,,ENST00000578647,;ENOSF1,upstream_gene_variant,,ENST00000584706,;	A	ENST00000340116	Transcript	missense_variant	693/1658	655/1353	219/450	G/W	Ggg/Tgg		1		-1	ENOSF1	HGNC	HGNC:30365	protein_coding	YES	CCDS11823.1	ENSP00000345974	Q7L5Y1		UPI0000252153	NM_202758.3	deleterious(0)		8/15		Gene3D:3.20.20.120,hmmpanther:PTHR13794,hmmpanther:PTHR13794:SF58,Superfamily_domains:SSF51604																	MODERATE	1	SNV	5			1										PASS		rs1417974536	.												A	3	1	2	690575	690575	C	A	1	0	0	0	0	1	0	0	0	4970	623	22	2		2	ENOSF1	18	690575	Missense_Mutation	SNP	C	11LU016_TP		690575	79682710	512	568											
ARHGAP28	0	.	GRCh38	chr18	6889968	6889968	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaacatttctacagtgatGgcaccaaaccttttcttcag	11	13	7	10	0	3	1	1	1	2	0	3	2	3	2	2	2	3	1	2	2	3	5	novel		11LU016_TP	11LU016_NB	G	G																c.1140G>C	p.Met380Ile	p.M380I	ENST00000419673	12/17	359	330	29	299	299	0	strelka-varscan-mutect	ARHGAP28,missense_variant,p.Met380Ile,ENST00000419673,NM_001010000.2;ARHGAP28,missense_variant,p.Met380Ile,ENST00000314319,;ARHGAP28,missense_variant,p.Met487Ile,ENST00000262227,;ARHGAP28,missense_variant,p.Met539Ile,ENST00000383472,;ARHGAP28,missense_variant,p.Met375Ile,ENST00000531294,;ARHGAP28,missense_variant,p.Met362Ile,ENST00000532996,;ARHGAP28,missense_variant,p.Met176Ile,ENST00000579689,;	C	ENST00000419673	Transcript	missense_variant	1357/5492	1140/1713	380/570	M/I	atG/atC		1		1	ARHGAP28	HGNC	HGNC:25509	protein_coding	YES	CCDS32785.1	ENSP00000392660	Q9P2N2		UPI00004CEC5C	NM_001010000.2	tolerated(0.06)		12/17		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF5,SMART_domains:SM00324,Superfamily_domains:SSF48350																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	2	6889968	6889968	G	C	1	0	0	0	0	1	0	0	0	1002	1348	47	4		4	ARHGAP28	18	6889968	Missense_Mutation	SNP	G	11LU016_TP	6199393	6889968	73483317	513	569											
PTPRM	0	.	GRCh38	chr18	8384614	8384614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagacacggccccatccaGgtggaatttgtctctgctga	9	9	10	13	1	1	2	0	1	1	1	3	3	2	3	3	3	1	1	3	3	1	1	novel		11LU016_TP	11LU016_NB	G	G																c.3972G>T	p.Gln1324His	p.Q1324H	ENST00000580170	30/33	171	133	38	173	173	0	strelka-varscan-mutect	PTPRM,missense_variant,p.Gln1311His,ENST00000332175,NM_002845.3;PTPRM,missense_variant,p.Gln1324His,ENST00000580170,NM_001105244.1;PTPRM,missense_variant,p.Gln1249His,ENST00000400053,;PTPRM,missense_variant,p.Gln138His,ENST00000400060,;PTPRM,non_coding_transcript_exon_variant,,ENST00000577827,;	T	ENST00000580170	Transcript	missense_variant	5009/5941	3972/4398	1324/1465	Q/H	caG/caT		1		1	PTPRM	HGNC	HGNC:9675	protein_coding	YES	CCDS58613.1	ENSP00000463325	P28827		UPI00015CFC03	NM_001105244.1	deleterious(0.02)		30/33		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,SMART_domains:SM00194,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	8384614	8384614	G	T	1	0	0	0	0	1	0	0	0	12960	991	35	2		2	PTPRM	18	8384614	Missense_Mutation	SNP	G	11LU016_TP	1494646	8384614	71988671	514	570											
MC5R	0	.	GRCh38	chr18	13826448	13826448	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcccggggccagctctgCgcggcagaggaccagcatgc	6	5	15	15	3	2	1	0	0	2	1	2	2	2	2	3	4	5	3	3	4	0	0			11LU016_TP	11LU016_NB	C	C																c.683C>A	p.Ala228Glu	p.A228E	ENST00000324750	1/1	137	102	35	143	143	0	strelka-varscan-mutect	MC5R,missense_variant,p.Ala228Glu,ENST00000324750,NM_005913.2;MC5R,downstream_gene_variant,,ENST00000589410,;	A	ENST00000324750	Transcript	missense_variant	905/1200	683/978	228/325	A/E	gCg/gAg	COSM3403441	1		1	MC5R	HGNC	HGNC:6933	protein_coding	YES	CCDS11868.1	ENSP00000318077	P33032		UPI0000050405	NM_005913.2	tolerated(0.22)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF5,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01063											1						MODERATE	1	SNV			1	1										PASS		rs1485593304	.												A	3	1	2	13826448	13826448	C	A	1	0	0	0	0	1	0	0	0	9300	768	27	1		1	MC5R	18	13826448	Missense_Mutation	SNP	C	11LU016_TP	5441834	13826448	66546837	515	571											
ANKRD30B	0	.	GRCh38	chr18	14752621	14752621	+	Missense_Mutation	SNP	G	G	T																															cagaagtagtaacatttctgGtagacagaaagtgccagctt																								novel		11LU016_TP	11LU016_NB	G	G																c.277G>T	p.Val93Leu	p.V93L	ENST00000358984	2/36	108	93	15	149	149	0	strelka-varscan-mutect	ANKRD30B,missense_variant,p.Val93Leu,ENST00000358984,NM_001145029.1;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,missense_variant,p.Val93Leu,ENST00000580206,;	T	ENST00000358984	Transcript	missense_variant	457/4359	277/4179	93/1392	V/L	Gta/Tta		1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1	tolerated(0.15)		2/36		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	14752621	14752621	G	T	1	0	0	0	0	1	0	0	0	762	1261	44	2		2	ANKRD30B	18	14752621	Missense_Mutation	SNP	G	11LU016_TP	926173	14752621	65620664	516	572	14	2									
ANKRD30B	0	.	GRCh38	chr18	14752628	14752628	+	Missense_Mutation	SNP	G	G	C																															agtaacatttctggtagacaGaaagtgccagcttaatgtcc																								novel		11LU016_TP	11LU016_NB	G	G																c.284G>C	p.Arg95Thr	p.R95T	ENST00000358984	2/36	112	97	15	150	150	0	strelka-varscan-mutect	ANKRD30B,missense_variant,p.Arg95Thr,ENST00000358984,NM_001145029.1;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,missense_variant,p.Arg95Thr,ENST00000580206,;	C	ENST00000358984	Transcript	missense_variant	464/4359	284/4179	95/1392	R/T	aGa/aCa		1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1	deleterious(0)		2/36		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	2	14752628	14752628	G	C	1	0	0	0	0	1	0	0	0	762	942	33	4		4	ANKRD30B	18	14752628	Missense_Mutation	SNP	G	11LU016_TP	7	14752628	65620657	517	573	14	2									
CCDC178	0	.	GRCh38	chr18	33397196	33397196	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagagcctttacttccTgacatgttaaacctataaaa	13	13	5	10	0	1	2	0	2	1	1	2	3	2	2	3	0	3	1	3	0	6	6	novel		11LU016_TP	11LU016_NB	T	T																c.71A>T	p.Gln24Leu	p.Q24L	ENST00000583930	3/23	101	86	15	137	137	0	strelka-varscan-mutect	CCDC178,missense_variant,p.Gln24Leu,ENST00000383096,;CCDC178,missense_variant,p.Gln24Leu,ENST00000403303,NM_001105528.1;CCDC178,missense_variant,p.Gln24Leu,ENST00000583930,;CCDC178,missense_variant,p.Gln24Leu,ENST00000300227,NM_198995.2;CCDC178,missense_variant,p.Gln24Leu,ENST00000406524,;CCDC178,missense_variant,p.Gln24Leu,ENST00000579947,;CCDC178,missense_variant,p.Gln24Leu,ENST00000579916,;CCDC178,missense_variant,p.Gln24Leu,ENST00000577766,;CCDC178,missense_variant,p.Gln24Leu,ENST00000399177,;	A	ENST00000583930	Transcript	missense_variant	150/3094	71/2676	24/891	Q/L	cAg/cTg		1		-1	CCDC178	HGNC	HGNC:29588	protein_coding	YES	CCDS77174.1	ENSP00000463254		F8W7A7	UPI00020655A5		tolerated_low_confidence(1)		3/23		hmmpanther:PTHR35088:SF1,hmmpanther:PTHR35088																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	33397196	33397196	T	A	1	0	0	0	0	1	0	0	0	2493	1580	55	4		4	CCDC178	18	33397196	Missense_Mutation	SNP	T	11LU016_TP	18644568	33397196	46976089	518	574											
DTNA	0	.	GRCh38	chr18	34875342	34875342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccaccccgacgcacaCgccgcaggactccctcacag	8	4	8	21	4	1	0	1	0	0	0	3	2	3	1	5	1	1	3	5	1	0	0	rs199556035		11LU016_TP	11LU016_NB	C	C																c.1586C>A	p.Thr529Lys	p.T529K	ENST00000598334	16/20	393	277	116	316	316	0	strelka-varscan-mutect	DTNA,missense_variant,p.Thr532Lys,ENST00000283365,NM_032975.3;DTNA,missense_variant,p.Thr536Lys,ENST00000399121,NM_001198939.1;DTNA,missense_variant,p.Thr589Lys,ENST00000444659,NM_001390.4;DTNA,missense_variant,p.Thr529Lys,ENST00000595022,NM_001198940.1;DTNA,missense_variant,p.Thr529Lys,ENST00000598334,NM_001198938.1;DTNA,missense_variant,p.Thr532Lys,ENST00000598142,;DTNA,missense_variant,p.Thr589Lys,ENST00000399113,;DTNA,missense_variant,p.Thr298Lys,ENST00000269192,NM_001198942.1;DTNA,missense_variant,p.Thr211Lys,ENST00000601125,NM_001198943.1;DTNA,missense_variant,p.Thr237Lys,ENST00000591182,NM_032980.3;DTNA,missense_variant,p.Thr241Lys,ENST00000556414,NM_001198944.1;DTNA,missense_variant,p.Thr15Lys,ENST00000590831,;	A	ENST00000598334	Transcript	missense_variant	1912/3201	1586/2175	529/724	T/K	aCg/aAg	rs199556035,COSM4071971,COSM4071972,COSM4071973,COSM4071974	1		1	DTNA	HGNC	HGNC:3057	protein_coding	YES	CCDS59312.1	ENSP00000470152	Q9Y4J8		UPI0001E92A2F	NM_001198938.1	deleterious(0.03)		16/20		hmmpanther:PTHR11915:SF209,hmmpanther:PTHR11915,PIRSF_domain:PIRSF038204										uncertain_significance	0,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1	1										PASS		rs199556035	.												A	3	1	2	34875342	34875342	C	A	1	0	0	0	0	1	0	0	0	4611	536	19	1		1	DTNA	18	34875342	Missense_Mutation	SNP	C	11LU016_TP	1478146	34875342	45497943	519	575											
FHOD3	0	.	GRCh38	chr18	36718412	36718412	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccgcccccaccccctccGcccctgttggacagcattcc	4	8	7	22	2	0	0	0	0	0	0	2	1	2	1	9	1	2	2	9	1	0	3	rs201617026		11LU016_TP	11LU016_NB	G	G																c.3114G>T	p.=	p.P1038P	ENST00000590592	19/29	99	80	19	101	100	1	varscan-mutect	FHOD3,synonymous_variant,p.=,ENST00000257209,NM_025135.3;FHOD3,synonymous_variant,p.=,ENST00000590592,NM_001281740.1;FHOD3,synonymous_variant,p.=,ENST00000359247,NM_001281739.1;FHOD3,synonymous_variant,p.=,ENST00000592930,;FHOD3,intron_variant,,ENST00000591635,;FHOD3,upstream_gene_variant,,ENST00000592128,;FHOD3,downstream_gene_variant,,ENST00000587493,;	T	ENST00000590592	Transcript	synonymous_variant	3114/4869	3114/4869	1038/1622	P	ccG/ccT	rs201617026,COSM2811492,COSM5430985	1		1	FHOD3	HGNC	HGNC:26178	protein_coding	YES	CCDS62418.1	ENSP00000466937	Q2V2M9		UPI0002840E0A	NM_001281740.1			19/29		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF213,Low_complexity_(Seg):seg											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs201617026	.												T	2	4	2	36718412	36718412	G	T	1	0	0	0	0	0	0	0	1	5748	1074	38	1		1	FHOD3	18	36718412	Silent	SNP	G	11LU016_TP	1843070	36718412	43654873	520	576											
ALPK2	0	.	GRCh38	chr18	58534987	58534987	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcagtgctgccacccTggacaaaattttcttcttta	9	13	6	13	0	3	0	1	0	2	0	3	1	3	1	3	1	3	1	3	1	3	5	novel		11LU016_TP	11LU016_NB	T	T																c.5200A>C	p.=	p.R1734R	ENST00000361673	5/13	194	162	32	246	246	0	strelka-varscan-mutect	ALPK2,synonymous_variant,p.=,ENST00000361673,NM_052947.3;RP11-1151B14.4,upstream_gene_variant,,ENST00000591360,;ALPK2,downstream_gene_variant,,ENST00000587842,;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;	G	ENST00000361673	Transcript	synonymous_variant	5414/7303	5200/6513	1734/2170	R	Agg/Cgg		1		-1	ALPK2	HGNC	HGNC:20565	protein_coding	YES	CCDS11966.2	ENSP00000354991	Q86TB3		UPI000022A768	NM_052947.3			5/13		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	2	58534987	58534987	T	G	1	0	0	0	0	0	0	0	1	645	1579	55	5		5	ALPK2	18	58534987	Silent	SNP	T	11LU016_TP	21816575	58534987	21838298	521	577											
CDH20	0	.	GRCh38	chr18	61554521	61554521	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggcaccgcccttcgactcCctccagacgtatatgttcga	7	10	9	15	4	0	1	0	0	0	1	4	3	2	1	4	1	0	3	4	1	2	4			11LU016_TP	11LU016_NB	C	C																c.2232C>G	p.=	p.S744S	ENST00000262717	12/12	285	210	75	260	260	0	strelka-varscan-mutect	CDH20,synonymous_variant,p.=,ENST00000262717,;CDH20,synonymous_variant,p.=,ENST00000536675,NM_031891.2;CDH20,synonymous_variant,p.=,ENST00000538374,;CDH20,downstream_gene_variant,,ENST00000587582,;	G	ENST00000262717	Transcript	synonymous_variant	2630/3882	2232/2406	744/801	S	tcC/tcG	COSM4478370	1		1	CDH20	HGNC	HGNC:1760	protein_coding	YES	CCDS11977.1	ENSP00000262717	Q9HBT6		UPI000013D30D				12/12		hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027,Pfam_domain:PF01049,Gene3D:4.10.900.10											1						LOW	1	SNV	2		1	1										PASS		.	.												G	2	3	2	61554521	61554521	C	G	1	0	0	0	0	0	0	0	1	2809	610	22	4		4	CDH20	18	61554521	Silent	SNP	C	11LU016_TP	3019534	61554521	18818764	522	578											
GALR1	0	.	GRCh38	chr18	77268722	77268722	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcagaatcaccgcccactgCctggcgtacagcaattcctc	9	9	7	16	2	2	1	2	0	0	1	4	1	3	1	4	1	3	2	4	1	3	3	novel		11LU016_TP	11LU016_NB	C	C																c.870C>A	p.Cys290Ter	p.C290*	ENST00000299727	3/3	347	281	66	466	464	2	strelka-varscan-mutect	GALR1,stop_gained,p.Cys290Ter,ENST00000299727,NM_001480.3;	A	ENST00000299727	Transcript	stop_gained	870/10044	870/1050	290/349	C/*	tgC/tgA		1		1	GALR1	HGNC	HGNC:4132	protein_coding	YES	CCDS12012.1	ENSP00000299727	P47211		UPI000013E5DE	NM_001480.3			3/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF31,hmmpanther:PTHR24230,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00663																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	2	77268722	77268722	C	A	1	0	0	0	0	0	1	0	0	6095	747	26	2		2	GALR1	18	77268722	Nonsense_Mutation	SNP	C	11LU016_TP	15714201	77268722	3104563	523	579											
CDC34	0	.	GRCh38	chr19	541390	541390	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtgacggcgtgaaggtGcccaccacgctggccgagta	8	5	16	12	5	0	2	0	2	0	0	0	4	0	2	3	3	2	2	3	3	2	1	rs35573985		11LU016_TP	11LU016_NB	G	G																c.549G>T	p.=	p.V183V	ENST00000215574	5/5	207	168	39	213	213	0	strelka-varscan-mutect	CDC34,synonymous_variant,p.=,ENST00000215574,NM_004359.1;CDC34,synonymous_variant,p.=,ENST00000607527,;CDC34,3_prime_UTR_variant,,ENST00000586283,;CDC34,3_prime_UTR_variant,,ENST00000606065,;GZMM,upstream_gene_variant,,ENST00000592501,NM_001258351.1;GZMM,upstream_gene_variant,,ENST00000264553,NM_005317.3;CDC34,non_coding_transcript_exon_variant,,ENST00000593036,;CDC34,non_coding_transcript_exon_variant,,ENST00000606400,;CDC34,downstream_gene_variant,,ENST00000586788,;	T	ENST00000215574	Transcript	synonymous_variant	769/1471	549/711	183/236	V	gtG/gtT	rs35573985	1		1	CDC34	HGNC	HGNC:1734	protein_coding	YES	CCDS12030.1	ENSP00000215574	P49427	A0A024R1Z1	UPI000013795A	NM_004359.1			5/5		hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF135,Gene3D:3.10.110.10																	LOW	1	SNV	1			1										PASS		rs35573985	.												T	2	4	2	541390	541390	G	T	1	0	0	0	0	0	0	0	1	2770	1306	46	2		2	CDC34	19	541390	Silent	SNP	G	11LU016_TP		541390	58076226	524	580											
ARHGAP45	0	.	GRCh38	chr19	1073980	1073980	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatggaccgggcagtgaGggcacgcctcccagcctgga	7	6	15	13	2	0	1	0	1	0	0	1	3	1	3	4	4	1	3	4	4	1	1	novel		11LU016_TP	11LU016_NB	G	G																c.804G>T	p.Glu268Asp	p.E268D	ENST00000539243	6/23	65	49	16	101	101	0	strelka-varscan-mutect	ARHGAP45,missense_variant,p.Glu252Asp,ENST00000313093,NM_012292.4;ARHGAP45,missense_variant,p.Glu279Asp,ENST00000590214,;ARHGAP45,missense_variant,p.Glu268Asp,ENST00000539243,NM_001258328.2;ARHGAP45,missense_variant,p.Glu256Asp,ENST00000586866,;ARHGAP45,missense_variant,p.Glu135Asp,ENST00000543365,NM_001282335.1;ARHGAP45,upstream_gene_variant,,ENST00000590577,NM_001282334.1;ARHGAP45,downstream_gene_variant,,ENST00000587186,;ARHGAP45,downstream_gene_variant,,ENST00000592335,;ARHGAP45,3_prime_UTR_variant,,ENST00000587602,;ARHGAP45,non_coding_transcript_exon_variant,,ENST00000586033,;ARHGAP45,intron_variant,,ENST00000591293,;	T	ENST00000539243	Transcript	missense_variant	907/4184	804/3459	268/1152	E/D	gaG/gaT		1		1	ARHGAP45	HGNC	HGNC:17102	protein_coding	YES	CCDS58637.1	ENSP00000439601	Q92619		UPI0001AE63E1	NM_001258328.2	tolerated(0.41)		6/23		hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF18																	MODERATE	1	SNV	2			1										PASS		rs1253632432	.												T	3	4	2	1073980	1073980	G	T	1	0	0	0	0	1	0	0	0	1015	991	35	2		2	ARHGAP45	19	1073980	Missense_Mutation	SNP	G	11LU016_TP	532590	1073980	57543636	525	581											
KDM4B	0	.	GRCh38	chr19	5134012	5134012	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcaacgcagcggctgcgcGcacggagccctactgcgcca	7	5	13	16	6	1	0	1	0	0	0	1	1	1	1	2	2	6	4	2	2	2	2	rs757620888		11LU016_TP	11LU016_NB	G	G																c.2036G>C	p.Arg679Pro	p.R679P	ENST00000159111	14/23	115	92	23	162	162	0	strelka-varscan-mutect	KDM4B,missense_variant,p.Arg713Pro,ENST00000611640,;KDM4B,missense_variant,p.Arg679Pro,ENST00000159111,NM_015015.2;KDM4B,missense_variant,p.Arg713Pro,ENST00000536461,;KDM4B,missense_variant,p.Arg425Pro,ENST00000588361,;KDM4B,upstream_gene_variant,,ENST00000588166,;KDM4B,non_coding_transcript_exon_variant,,ENST00000589104,;	C	ENST00000159111	Transcript	missense_variant	2254/5593	2036/3291	679/1096	R/P	cGc/cCc	rs757620888	1		1	KDM4B	HGNC	HGNC:29136	protein_coding	YES	CCDS12138.1	ENSP00000159111		A0A0C4DFL8	UPI000023B7FC	NM_015015.2	tolerated(0.25)		14/23		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF30																	MODERATE	1	SNV	1			1										PASS		rs757620888	.												C	3	2	2	5134012	5134012	G	C	1	0	0	0	0	1	0	0	0	8047	1087	38	4		4	KDM4B	19	5134012	Missense_Mutation	SNP	G	11LU016_TP	4060032	5134012	53483604	526	582											
ZNF557	0	.	GRCh38	chr19	7083315	7083315	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacaagagagttcatacgggGgagggtcattatgtatgtaa	13	10	13	5	1	2	1	2	0	0	1	2	3	2	2	0	3	1	3	0	3	5	5	novel		11LU016_TP	11LU016_NB	G	G																c.864G>T	p.=	p.G288G	ENST00000252840	8/8	194	153	41	224	222	2	strelka-varscan-mutect	ZNF557,synonymous_variant,p.=,ENST00000414706,NM_001044388.1;ZNF557,synonymous_variant,p.=,ENST00000252840,NM_024341.2,NM_001044387.1;	T	ENST00000252840	Transcript	synonymous_variant	1365/2268	864/1293	288/430	G	ggG/ggT		1		1	ZNF557	HGNC	HGNC:28632	protein_coding	YES	CCDS42485.1	ENSP00000252840	Q8N988		UPI000020324B	NM_024341.2,NM_001044387.1			8/8		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF145,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	7083315	7083315	G	T	1	0	0	0	0	0	0	0	1	18562	1219	43	2		2	ZNF557	19	7083315	Silent	SNP	G	11LU016_TP	1949303	7083315	51534301	527	583											
FBN3	0	.	GRCh38	chr19	8085540	8085540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggcacatggtctgcagcaCctcggcaaagcagggcccct	8	5	12	16	2	1	0	0	0	1	0	2	0	1	0	4	4	3	5	4	4	1	0	novel		11LU016_TP	11LU016_NB	C	C																c.6910G>T	p.Val2304Leu	p.V2304L	ENST00000600128	56/64	84	71	13	86	86	0	strelka-varscan-mutect	FBN3,missense_variant,p.Val2304Leu,ENST00000600128,;FBN3,missense_variant,p.Val2304Leu,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Val2304Leu,ENST00000601739,NM_001321431.1;FBN3,downstream_gene_variant,,ENST00000601281,;FBN3,upstream_gene_variant,,ENST00000595036,;FBN3,downstream_gene_variant,,ENST00000598269,;	A	ENST00000600128	Transcript	missense_variant	7325/9362	6910/8430	2304/2809	V/L	Gtg/Ttg		1		-1	FBN3	HGNC	HGNC:18794	protein_coding	YES	CCDS12196.1	ENSP00000470498	Q75N90		UPI000013D88F		tolerated(0.19)		56/64		PROSITE_profiles:PS51364,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PIRSF_domain:PIRSF036312,Gene3D:3.90.290.10,Superfamily_domains:SSF57581																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	8085540	8085540	C	A	1	0	0	0	0	1	0	0	0	5567	507	18	2		2	FBN3	19	8085540	Missense_Mutation	SNP	C	11LU016_TP	1002225	8085540	50532076	528	584											
MUC16	0	.	GRCh38	chr19	8953520	8953520	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taagtggtcagtctctcatgGgaggtggtgctcaaacttga	9	12	13	7	0	4	1	3	1	1	0	5	2	4	2	0	4	2	1	0	4	2	2	novel		11LU016_TP	11LU016_NB	G	G																c.23250C>T	p.=	p.S7750S	ENST00000397910	3/84	325	273	52	207	207	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	A	ENST00000397910	Transcript	synonymous_variant	23454/43816	23250/43524	7750/14507	S	tcC/tcT		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	2	8953520	8953520	G	A	1	0	0	0	0	0	0	0	1	9972	1219	43	3		3	MUC16	19	8953520	Silent	SNP	G	11LU016_TP	867980	8953520	49664096	529	585											
OR7D2	0	.	GRCh38	chr19	9186558	9186558	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacaggcattggggtccaCttcacttctgcggtgactca	7	10	13	11	1	3	1	2	1	1	0	4	2	4	2	1	5	1	1	1	5	0	3	novel		11LU016_TP	11LU016_NB	C	C																c.777C>G	p.His259Gln	p.H259Q	ENST00000344248	1/1	154	146	8	140	140	0	strelka-mutect	OR7D2,missense_variant,p.His259Gln,ENST00000344248,NM_175883.2;OR7E16P,upstream_gene_variant,,ENST00000592975,;TCEB1P29,upstream_gene_variant,,ENST00000588193,;	G	ENST00000344248	Transcript	missense_variant	965/3224	777/939	259/312	H/Q	caC/caG		1		1	OR7D2	HGNC	HGNC:8378	protein_coding	YES	CCDS32900.1	ENSP00000345563	Q96RA2		UPI0000041C0C	NM_175883.2	deleterious_low_confidence(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF157,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs978622761	.												G	3	3	2	9186558	9186558	C	G	1	0	0	0	0	1	0	0	0	11289	564	20	4		4	OR7D2	19	9186558	Missense_Mutation	SNP	C	11LU016_TP	233038	9186558	49431058	530	586											
ZNF560	0	.	GRCh38	chr19	9467157	9467157	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttacattcatatggcttcTctccactgtgtcttcgtaaa	8	17	5	11	1	4	0	1	0	3	0	7	0	5	0	1	1	1	2	1	1	4	6	novel		11LU016_TP	11LU016_NB	T	T																c.1790A>T	p.Glu597Val	p.E597V	ENST00000301480	10/10	291	237	54	238	238	0	strelka-varscan-mutect	ZNF560,missense_variant,p.Glu597Val,ENST00000301480,NM_152476.2;ZNF560,downstream_gene_variant,,ENST00000585974,;	A	ENST00000301480	Transcript	missense_variant	2004/2654	1790/2373	597/790	E/V	gAg/gTg		1		-1	ZNF560	HGNC	HGNC:26484	protein_coding	YES	CCDS12214.1	ENSP00000301480	Q96MR9		UPI000013E720	NM_152476.2	deleterious(0)		10/10		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF44,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1176509380	.												A	3	1	2	9467157	9467157	T	A	1	0	0	0	0	1	0	0	0	18565	1551	54	4		4	ZNF560	19	9467157	Missense_Mutation	SNP	T	11LU016_TP	280599	9467157	49150459	531	587											
C19orf38	0	.	GRCh38	chr19	10850490	10850490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggggacccttccactGccagtatggagtgttaggtg	7	10	14	10	0	0	0	0	0	0	0	2	2	2	2	4	4	1	2	4	4	2	3	novel		11LU016_TP	11LU016_NB	G	G																c.263G>T	p.Cys88Phe	p.C88F	ENST00000397820	2/7	197	167	30	271	271	0	strelka-varscan-mutect	C19orf38,missense_variant,p.Cys88Phe,ENST00000397820,NM_001136482.1;C19orf38,missense_variant,p.Cys88Phe,ENST00000592854,;C19orf38,non_coding_transcript_exon_variant,,ENST00000587494,;	T	ENST00000397820	Transcript	missense_variant	370/1223	263/693	88/230	C/F	tGc/tTc		1		1	C19orf38	HGNC	HGNC:34073	protein_coding	YES	CCDS45970.1	ENSP00000380920	A8MVS5		UPI0000160991	NM_001136482.1	deleterious(0)		2/7		hmmpanther:PTHR36859,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	10850490	10850490	G	T	1	0	0	0	0	1	0	0	0	1909	1319	46	2		2	C19orf38	19	10850490	Missense_Mutation	SNP	G	11LU016_TP	1383333	10850490	47767126	532	588											
ZNF442	0	.	GRCh38	chr19	12353069	12353069	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacccagcaaagcccactCttcctgggtgaagttcaccg	9	8	10	14	1	2	1	1	1	1	0	3	2	3	2	4	2	2	2	4	2	2	2	novel		11LU016_TP	11LU016_NB	C	C																c.124G>T	p.Glu42Ter	p.E42*	ENST00000242804	4/6	115	93	22	94	94	0	strelka-varscan-mutect	ZNF442,stop_gained,p.Glu42Ter,ENST00000242804,NM_030824.2;ZNF442,stop_gained,p.Glu42Ter,ENST00000545749,;ZNF442,intron_variant,,ENST00000438182,;ZNF442,intron_variant,,ENST00000424168,;ZNF442,non_coding_transcript_exon_variant,,ENST00000462995,;	A	ENST00000242804	Transcript	stop_gained	707/6219	124/1884	42/627	E/*	Gag/Tag		1		-1	ZNF442	HGNC	HGNC:20877	protein_coding	YES	CCDS12271.1	ENSP00000242804	Q9H7R0		UPI000006D14F	NM_030824.2			4/6		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF6,SMART_domains:SM00349																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	2	12353069	12353069	C	A	1	0	0	0	0	0	1	0	0	18486	922	32	2		2	ZNF442	19	12353069	Nonsense_Mutation	SNP	C	11LU016_TP	1502579	12353069	46264547	533	589											
GCDH	0	.	GRCh38	chr19	12893483	12893483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccctcctactaccaccagGatatggctgtgctggggttt	6	12	10	13	0	0	0	0	0	0	0	2	1	2	1	5	4	3	3	5	4	3	4			11LU016_TP	11LU016_NB	G	G																c.335G>T	p.Gly112Val	p.G112V	ENST00000222214	6/12	303	244	59	263	262	1	strelka-varscan-mutect	GCDH,missense_variant,p.Gly112Val,ENST00000222214,NM_000159.3,NM_013976.3;GCDH,missense_variant,p.Gly112Val,ENST00000591470,;GCDH,missense_variant,p.Gly100Val,ENST00000588905,;GCDH,missense_variant,p.Gly91Val,ENST00000589039,;GCDH,missense_variant,p.Gly128Val,ENST00000587072,;GCDH,upstream_gene_variant,,ENST00000590472,;GCDH,upstream_gene_variant,,ENST00000591050,;GCDH,missense_variant,p.Arg130Ser,ENST00000590530,;GCDH,splice_region_variant,,ENST00000591043,;GCDH,splice_region_variant,,ENST00000585420,;GCDH,splice_region_variant,,ENST00000421816,;GCDH,splice_region_variant,,ENST00000590627,;GCDH,splice_region_variant,,ENST00000587832,;GCDH,downstream_gene_variant,,ENST00000590445,;GCDH,downstream_gene_variant,,ENST00000585760,;RPS6P25,upstream_gene_variant,,ENST00000464444,;	T	ENST00000222214	Transcript	missense_variant,splice_region_variant	546/1956	335/1317	112/438	G/V	gGa/gTa	COSM1148084,COSM709902	1		1	GCDH	HGNC	HGNC:4189	protein_coding	YES	CCDS12286.1	ENSP00000222214	Q92947	A0A024R7F9	UPI000012B292	NM_000159.3,NM_013976.3	deleterious_low_confidence(0.01)		6/12		hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF307,Pfam_domain:PF02771,Gene3D:1.10.540.10,Superfamily_domains:SSF56645											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	2	12893483	12893483	G	T	1	0	0	0	0	1	0	0	0	6157	1188	41	2		2	GCDH	19	12893483	Missense_Mutation	SNP	G	11LU016_TP	540414	12893483	45724133	534	590											
ZNF333	0	.	GRCh38	chr19	14718943	14718943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtatgagtgcgcgacttGcggtcaggtcttgagtcgtc	6	12	14	9	4	2	2	1	2	1	0	4	3	2	2	0	2	2	1	0	2	1	3	novel		11LU016_TP	11LU016_NB	G	G																c.1616G>A	p.Cys539Tyr	p.C539Y	ENST00000292530	12/12	134	111	23	122	122	0	strelka-varscan-mutect	ZNF333,missense_variant,p.Cys539Tyr,ENST00000292530,NM_032433.2;ZNF333,intron_variant,,ENST00000540689,NM_001300912.1;ZNF333,3_prime_UTR_variant,,ENST00000598161,;ZNF333,downstream_gene_variant,,ENST00000597301,;ZNF333,downstream_gene_variant,,ENST00000597007,;	A	ENST00000292530	Transcript	missense_variant	1707/4672	1616/1998	539/665	C/Y	tGc/tAc		1		1	ZNF333	HGNC	HGNC:15624	protein_coding	YES	CCDS12316.1	ENSP00000292530	Q96JL9		UPI000013C35C	NM_032433.2	deleterious(0)		12/12		PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF183,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,SMART_domains:SM00614																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	14718943	14718943	G	A	1	0	0	0	0	1	0	0	0	18422	1319	46	3		3	ZNF333	19	14718943	Missense_Mutation	SNP	G	11LU016_TP	1825460	14718943	43898673	535	591											
BRD4	0	.	GRCh38	chr19	15255567	15255567	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacgtgggagggggcttgcTcttcatgggcgctggctcct	4	11	16	10	2	2	0	1	0	1	0	3	1	3	1	1	5	2	4	1	5	1	3	novel		11LU016_TP	11LU016_NB	T	T																c.1777A>G	p.Ser593Gly	p.S593G	ENST00000263377	10/20	110	103	7	100	100	0	strelka-varscan-mutect	BRD4,missense_variant,p.Ser593Gly,ENST00000263377,NM_058243.2;BRD4,missense_variant,p.Ser593Gly,ENST00000371835,NM_014299.2;BRD4,missense_variant,p.Ser593Gly,ENST00000360016,;BRD4,downstream_gene_variant,,ENST00000594841,;BRD4,downstream_gene_variant,,ENST00000602230,;BRD4,upstream_gene_variant,,ENST00000595926,;BRD4,downstream_gene_variant,,ENST00000594842,;	C	ENST00000263377	Transcript	missense_variant	1999/7169	1777/4089	593/1362	S/G	Agc/Ggc		1		-1	BRD4	HGNC	HGNC:13575	protein_coding	YES	CCDS12328.1	ENSP00000263377	O60885		UPI0000126ACE	NM_058243.2	tolerated(0.24)		10/20		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF143																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	2	15255567	15255567	T	C	1	0	0	0	0	1	0	0	0	1674	1551	54	5		5	BRD4	19	15255567	Missense_Mutation	SNP	T	11LU016_TP	536624	15255567	43362049	536	592											
PGLYRP2	0	.	GRCh38	chr19	15475841	15475841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggatgaccccatccaGggcgccattgaggaaggcca	11	5	12	13	1	0	2	0	2	0	0	2	4	2	4	6	4	0	0	6	4	2	1	rs201701673		11LU016_TP	11LU016_NB	G	G																c.829C>A	p.Leu277Met	p.L277M	ENST00000340880	2/5	308	240	68	321	321	0	strelka-varscan-mutect	PGLYRP2,missense_variant,p.Leu277Met,ENST00000292609,;PGLYRP2,missense_variant,p.Leu277Met,ENST00000340880,NM_052890.3;PGLYRP2,downstream_gene_variant,,ENST00000594637,;PGLYRP2,downstream_gene_variant,,ENST00000601792,;	T	ENST00000340880	Transcript	missense_variant	1310/2230	829/1731	277/576	L/M	Ctg/Atg	rs201701673	1		-1	PGLYRP2	HGNC	HGNC:30013	protein_coding	YES	CCDS12330.2	ENSP00000345968	Q96PD5		UPI000004EEA6	NM_052890.3	tolerated(0.29)		2/5		hmmpanther:PTHR11022,hmmpanther:PTHR11022:SF43																	MODERATE	1	SNV	1			1										PASS		rs201701673	.												T	3	4	2	15475841	15475841	G	T	1	0	0	0	0	1	0	0	0	11883	991	35	2		2	PGLYRP2	19	15475841	Missense_Mutation	SNP	G	11LU016_TP	220274	15475841	43141775	537	593											
OR10H2	0	.	GRCh38	chr19	15728487	15728487	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcctggtgggctgctcCtgggctggtggctcggtcat	1	11	17	12	1	1	0	1	0	0	0	3	0	2	0	3	6	2	4	3	6	0	0	novel		11LU016_TP	11LU016_NB	C	C																c.444C>A	p.=	p.S148S	ENST00000305899	1/1	80	59	21	87	87	0	strelka-varscan-mutect	OR10H2,synonymous_variant,p.=,ENST00000305899,NM_013939.2;	A	ENST00000305899	Transcript	synonymous_variant	468/1041	444/948	148/315	S	tcC/tcA		1		1	OR10H2	HGNC	HGNC:8173	protein_coding	YES	CCDS12333.1	ENSP00000306095	O60403	A0A126GWJ7	UPI000004CA3E	NM_013939.2			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF111,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	2	15728487	15728487	C	A	1	0	0	0	0	0	0	0	1	10983	668	24	2		2	OR10H2	19	15728487	Silent	SNP	C	11LU016_TP	252646	15728487	42889129	538	594											
OR10H3	0	.	GRCh38	chr19	15741973	15741973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcctgtgggagcaagaCatcatctgtcatcatgggtg	8	11	14	8	0	4	1	3	0	1	1	4	2	4	2	1	3	1	2	1	3	1	1	novel		11LU016_TP	11LU016_NB	C	C																c.581C>A	p.Thr194Lys	p.T194K	ENST00000305892	1/1	501	407	94	369	369	0	strelka-varscan-mutect	OR10H3,missense_variant,p.Thr194Lys,ENST00000305892,NM_013938.1;	A	ENST00000305892	Transcript	missense_variant	581/951	581/951	194/316	T/K	aCa/aAa		1		1	OR10H3	HGNC	HGNC:8174	protein_coding	YES	CCDS12334.1	ENSP00000307130	O60404	A0A126GW93	UPI0000041DB5	NM_013938.1	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF78,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	2	15741973	15741973	C	A	1	0	0	0	0	1	0	0	0	10984	478	17	2		2	OR10H3	19	15741973	Missense_Mutation	SNP	C	11LU016_TP	13486	15741973	42875643	539	595											
FAM129C	0	.	GRCh38	chr19	17553553	17553553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagttttcggcctacccCaagacaatgagatattcctg	10	11	9	11	1	0	2	0	1	0	2	2	4	1	3	4	2	1	1	4	2	4	5	novel		11LU016_TP	11LU016_NB	C	C																c.2084C>T	p.Pro695Leu	p.P695L	ENST00000335393	16/16	181	144	37	198	198	0	strelka-varscan-mutect	FAM129C,missense_variant,p.Pro695Leu,ENST00000335393,NM_001321826.1,NM_173544.4;FAM129C,missense_variant,p.Pro664Leu,ENST00000601861,;FAM129C,missense_variant,p.Pro421Leu,ENST00000449408,;COLGALT1,upstream_gene_variant,,ENST00000252599,NM_024656.2;FAM129C,downstream_gene_variant,,ENST00000595684,;FAM129C,downstream_gene_variant,,ENST00000332386,NM_001098524.1;FAM129C,downstream_gene_variant,,ENST00000599164,NM_001321827.1;FAM129C,downstream_gene_variant,,ENST00000599124,;FAM129C,downstream_gene_variant,,ENST00000600871,;COLGALT1,upstream_gene_variant,,ENST00000600474,;FAM129C,3_prime_UTR_variant,,ENST00000600519,;	T	ENST00000335393	Transcript	missense_variant	2222/2508	2084/2094	695/697	P/L	cCa/cTa		1		1	FAM129C	HGNC	HGNC:24130	protein_coding	YES	CCDS12362.1	ENSP00000335040	Q86XR2		UPI0000246FFF	NM_001321826.1,NM_173544.4	deleterious_low_confidence(0)		16/16																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	17553553	17553553	C	T	1	0	0	0	0	1	0	0	0	5288	594	21	3		3	FAM129C	19	17553553	Missense_Mutation	SNP	C	11LU016_TP	1811580	17553553	41064063	540	596											
ZNF85	0	.	GRCh38	chr19	20948981	20948981	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatatgtaaaagtcgctcAtaaattttcaaattcaaaca	19	13	3	6	1	3	0	3	0	0	0	4	0	3	0	0	0	1	2	0	0	9	7	novel		11LU016_TP	11LU016_NB	A	A																c.467A>T	p.His156Leu	p.H156L	ENST00000328178	4/4	133	108	25	135	135	0	strelka-varscan-mutect	ZNF85,missense_variant,p.His156Leu,ENST00000328178,NM_003429.4;ZNF85,missense_variant,p.His123Leu,ENST00000345030,;ZNF85,missense_variant,p.His104Leu,ENST00000596534,;ZNF85,missense_variant,p.His79Leu,ENST00000599064,;ZNF85,missense_variant,p.His104Leu,ENST00000595742,;ZNF85,missense_variant,p.His79Leu,ENST00000598862,;ZNF85,missense_variant,p.His92Leu,ENST00000599885,;ZNF85,downstream_gene_variant,,ENST00000597314,;ZNF85,downstream_gene_variant,,ENST00000595854,;ZNF85,downstream_gene_variant,,ENST00000601924,;ZNF85,downstream_gene_variant,,ENST00000601284,NM_001256171.1;ZNF85,non_coding_transcript_exon_variant,,ENST00000601023,;	T	ENST00000328178	Transcript	missense_variant	580/2296	467/1788	156/595	H/L	cAt/cTt		1		1	ZNF85	HGNC	HGNC:13160	protein_coding	YES	CCDS32977.1	ENSP00000329793	Q03923		UPI0000203897	NM_003429.4	deleterious(0.05)		4/4		Gene3D:3.30.160.60,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF88																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	20948981	20948981	A	T	1	0	0	0	0	1	0	0	0	18781	217	8	4		4	ZNF85	19	20948981	Missense_Mutation	SNP	A	11LU016_TP	3395428	20948981	37668635	541	597											
ZNF729	0	.	GRCh38	chr19	22314477	22314477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacaagcgtgaagaatgtGgcaaagcttttagccagtcc	12	9	10	10	1	0	2	0	1	0	1	1	2	1	2	3	1	4	2	3	1	6	3			11LU016_TP	11LU016_NB	G	G																c.1060G>A	p.Gly354Ser	p.G354S	ENST00000601693	4/4	256	211	45	273	272	1	strelka-varscan-mutect	ZNF729,missense_variant,p.Gly354Ser,ENST00000601693,NM_001242680.1;	A	ENST00000601693	Transcript	missense_variant	1178/3877	1060/3759	354/1252	G/S	Ggc/Agc	COSM5691960	1		1	ZNF729	HGNC	HGNC:32464	protein_coding	YES	CCDS59368.1	ENSP00000469582	A6NN14		UPI000042600C	NM_001242680.1	deleterious(0.03)		4/4		PROSITE_profiles:PS50157,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	2		1	1										PASS		rs1157399199	.												A	3	1	2	22314477	22314477	G	A	1	0	0	0	0	1	0	0	0	18703	1348	47	3		3	ZNF729	19	22314477	Missense_Mutation	SNP	G	11LU016_TP	1365496	22314477	36303139	542	598											
ZNF492	0	.	GRCh38	chr19	22665197	22665197	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctacaaacctgaaagtTgtaacaatgcttgtgacaac	16	10	6	9	0	1	2	0	2	1	0	1	2	1	2	1	0	6	3	1	0	7	4	novel		11LU016_TP	11LU016_NB	T	T																c.1528T>A	p.Cys510Ser	p.C510S	ENST00000456783	4/4	83	70	13	108	108	0	strelka-varscan-mutect	ZNF492,missense_variant,p.Cys510Ser,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	A	ENST00000456783	Transcript	missense_variant	1772/4245	1528/1596	510/531	C/S	Tgt/Agt		1		1	ZNF492	HGNC	HGNC:23707	protein_coding	YES	CCDS46032.1	ENSP00000413660	Q9P255		UPI00001C200B	NM_020855.2	deleterious(0.01)		4/4		Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	22665197	22665197	T	A	1	0	0	0	0	1	0	0	0	18516	1812	63	4		4	ZNF492	19	22665197	Missense_Mutation	SNP	T	11LU016_TP	350720	22665197	35952419	543	599											
ZNF585A	0	.	GRCh38	chr19	37155879	37155879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacctgggcagctctgaCgtggcctctcaccctgcagt	6	9	10	16	1	3	1	2	1	2	0	4	1	3	1	3	2	2	3	3	2	0	0	rs374585649		11LU016_TP	11LU016_NB	C	C																c.278G>A	p.Arg93His	p.R93H	ENST00000292841	4/5	223	210	13	235	235	0	varscan-mutect	ZNF585A,missense_variant,p.Arg93His,ENST00000292841,NM_001288800.1;ZNF585A,missense_variant,p.Arg38His,ENST00000356958,NM_152655.3;ZNF585A,missense_variant,p.Arg38His,ENST00000392157,NM_199126.2;CTC-454I21.3,missense_variant,p.Arg81His,ENST00000588873,;ZNF585A,non_coding_transcript_exon_variant,,ENST00000588723,;ZNF585A,missense_variant,p.Arg93His,ENST00000587817,;CTC-454I21.3,downstream_gene_variant,,ENST00000590245,;	T	ENST00000292841	Transcript	missense_variant	537/8618	278/2310	93/769	R/H	cGt/cAt	rs374585649,COSM1325303	1		-1	ZNF585A	HGNC	HGNC:26305	protein_coding	YES	CCDS74353.1	ENSP00000292841	Q6P3V2		UPI00002021E7	NM_001288800.1	tolerated(0.19)		4/5		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF105											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs374585649	.												T	3	4	2	37155879	37155879	C	T	1	0	0	0	0	1	0	0	0	18591	536	19	1		1	ZNF585A	19	37155879	Missense_Mutation	SNP	C	11LU016_TP	14490682	37155879	21461737	544	600											
RYR1	0	.	GRCh38	chr19	38519298	38519298	+	Frame_Shift_Del	DEL	G	G	-																															tatcgggcggctgcgcaagaGggcagggaaggtggtgtccg																								novel		11LU016_TP	11LU016_NB	G	G																c.10105delG	p.Ala3369GlnfsTer56	p.A3369Qfs*56	ENST00000359596	67/106	360	262	98	327	327	0	sindel-varindel-pindel	RYR1,frameshift_variant,p.Ala3369GlnfsTer56,ENST00000355481,NM_001042723.1;RYR1,frameshift_variant,p.Ala3369GlnfsTer56,ENST00000359596,NM_000540.2;RYR1,frameshift_variant,p.Ala305GlnfsTer56,ENST00000599547,;RYR1,3_prime_UTR_variant,,ENST00000594335,;RYR1,upstream_gene_variant,,ENST00000600337,;	-	ENST00000359596	Transcript	frameshift_variant	10103/15117	10103/15117	3368/5038	R/X	aGg/ag		1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2			67/106		hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715																	HIGH	1	deletion	5	2		1										PASS		.	.												-	7	5	2	38519298	38519298	G	-	1	0	1	0	1	0	0	0	0	14028	1000	35	0		0	RYR1	19	38519298	Frame_Shift_Del	DEL	G	11LU016_TP	1363419	38519298	20098318	545	601											
MAP4K1	0	.	GRCh38	chr19	38612708	38612708	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acacagctcattgtatcctcCcttcagggccacagctgcca	9	9	7	16	0	2	0	2	0	0	0	4	0	4	0	4	1	3	3	4	1	1	3	novel		11LU016_TP	11LU016_NB	C	C																c.568G>T	p.Gly190Ter	p.G190*	ENST00000591517	9/32	170	124	46	153	153	0	strelka-varscan-mutect	MAP4K1,stop_gained,p.Gly190Ter,ENST00000591517,NM_007181.5;MAP4K1,stop_gained,p.Gly186Ter,ENST00000589130,;MAP4K1,stop_gained,p.Gly190Ter,ENST00000396857,NM_001042600.2;MAP4K1,stop_gained,p.Gly190Ter,ENST00000586296,;MAP4K1,upstream_gene_variant,,ENST00000591921,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000589002,;MAP4K1,stop_gained,p.Gly29Ter,ENST00000585583,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000591707,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000592888,;MAP4K1,downstream_gene_variant,,ENST00000592225,;MAP4K1,downstream_gene_variant,,ENST00000588083,;MAP4K1,downstream_gene_variant,,ENST00000587300,;	A	ENST00000591517	Transcript	stop_gained	597/2700	568/2502	190/833	G/*	Gga/Tga		1		-1	MAP4K1	HGNC	HGNC:6863	protein_coding	YES	CCDS59385.1	ENSP00000465039	Q92918		UPI00000747ED	NM_007181.5			9/32		PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF88,hmmpanther:PTHR24361,Pfam_domain:PF00069,PIRSF_domain:PIRSF038172,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	2	38612708	38612708	C	A	1	0	0	0	0	0	1	0	0	9183	632	22	2		2	MAP4K1	19	38612708	Nonsense_Mutation	SNP	C	11LU016_TP	93410	38612708	20004908	546	602											
FCGBP	0	.	GRCh38	chr19	39894323	39894323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtccatgttaccgcagagcCcgcacactgcgccatgatag	9	7	11	14	3	0	2	0	1	0	1	1	2	1	2	4	1	3	3	4	1	2	2	novel		11LU016_TP	11LU016_NB	C	C																c.5438G>T	p.Gly1813Val	p.G1813V	ENST00000616721	12/28	902	671	231	944	943	1	strelka-varscan-mutect	FCGBP,missense_variant,p.Gly1813Val,ENST00000616721,NM_003890.2;FCGBP,missense_variant,p.Gly678Val,ENST00000620799,;	A	ENST00000616721	Transcript	missense_variant	5446/12787	5438/12615	1813/4204	G/V	gGg/gTg		1		-1	FCGBP	HGNC	HGNC:13572	protein_coding	YES		ENSP00000481056		A0A087WXI2	UPI0004620B9E	NM_003890.2	deleterious(0)		12/28		Pfam_domain:PF00094,PROSITE_profiles:PS51233,SMART_domains:SM00216																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	39894323	39894323	C	A	1	0	0	0	0	1	0	0	0	5641	623	22	2		2	FCGBP	19	39894323	Missense_Mutation	SNP	C	11LU016_TP	1281615	39894323	18723293	547	603											
HNRNPUL1	0	.	GRCh38	chr19	41276174	41276174	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagataactgcgacctccActtcaaggtggcccgagatc	11	7	9	14	2	1	2	1	0	0	2	3	4	2	2	3	2	2	0	3	2	2	2	novel		11LU016_TP	11LU016_NB	A	A																c.662A>T	p.His221Leu	p.H221L	ENST00000392006	5/15	264	197	67	368	368	0	strelka-varscan-mutect	HNRNPUL1,missense_variant,p.His221Leu,ENST00000392006,NM_007040.4;HNRNPUL1,missense_variant,p.His121Leu,ENST00000352456,;HNRNPUL1,missense_variant,p.His132Leu,ENST00000263367,;HNRNPUL1,missense_variant,p.His221Leu,ENST00000602130,;HNRNPUL1,missense_variant,p.His178Leu,ENST00000378215,;HNRNPUL1,missense_variant,p.His121Leu,ENST00000595018,NM_144732.3;HNRNPUL1,missense_variant,p.His121Leu,ENST00000593587,;HNRNPUL1,missense_variant,p.His70Leu,ENST00000599614,;HNRNPUL1,missense_variant,p.His121Leu,ENST00000599719,;HNRNPUL1,missense_variant,p.His121Leu,ENST00000601336,;HNRNPUL1,missense_variant,p.His81Leu,ENST00000597725,;HNRNPUL1,intron_variant,,ENST00000617305,;HNRNPUL1,intron_variant,,ENST00000617774,;HNRNPUL1,downstream_gene_variant,,ENST00000601309,;HNRNPUL1,downstream_gene_variant,,ENST00000595336,;HNRNPUL1,non_coding_transcript_exon_variant,,ENST00000594207,;HNRNPUL1,missense_variant,p.His14Leu,ENST00000600596,;HNRNPUL1,3_prime_UTR_variant,,ENST00000595196,;HNRNPUL1,upstream_gene_variant,,ENST00000600332,;HNRNPUL1,downstream_gene_variant,,ENST00000599521,;	T	ENST00000392006	Transcript	missense_variant	835/3555	662/2571	221/856	H/L	cAc/cTc		1		1	HNRNPUL1	HGNC	HGNC:17011	protein_coding	YES	CCDS12576.1	ENSP00000375863	Q9BUJ2		UPI000013D3F4	NM_007040.4	deleterious(0)		5/15		PROSITE_profiles:PS50188,hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF41,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	41276174	41276174	A	T	1	0	0	0	0	1	0	0	0	7169	159	6	4		4	HNRNPUL1	19	41276174	Missense_Mutation	SNP	A	11LU016_TP	1381851	41276174	17341442	548	604											
PTGIR	0	.	GRCh38	chr19	46623830	46623830	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaggcgggcgcagcggggCccgtccagctgcgcgtagag	5	3	19	14	6	0	1	0	0	0	1	1	1	1	1	3	4	3	3	3	4	1	1	novel		11LU016_TP	11LU016_NB	C	C																c.396G>T	p.=	p.G132G	ENST00000291294	2/3	165	119	46	200	200	0	strelka-varscan-mutect	PTGIR,synonymous_variant,p.=,ENST00000291294,NM_000960.3;PTGIR,synonymous_variant,p.=,ENST00000596260,;PTGIR,intron_variant,,ENST00000597185,;PTGIR,intron_variant,,ENST00000598865,;PTGIR,intron_variant,,ENST00000594275,;PTGIR,non_coding_transcript_exon_variant,,ENST00000595460,;	A	ENST00000291294	Transcript	synonymous_variant	530/2107	396/1161	132/386	G	ggG/ggT		1		-1	PTGIR	HGNC	HGNC:9602	protein_coding	YES	CCDS12686.1	ENSP00000291294	P43119		UPI000005042B	NM_000960.3			2/3		PROSITE_profiles:PS50262,hmmpanther:PTHR11866:SF7,hmmpanther:PTHR11866,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00856																	LOW	1	SNV	1			1										PASS		rs1473002305	.												A	2	1	2	46623830	46623830	C	A	1	0	0	0	0	0	0	0	1	12907	726	26	2		2	PTGIR	19	46623830	Silent	SNP	C	11LU016_TP	5347656	46623830	11993786	549	605											
IZUMO2	0	.	GRCh38	chr19	50159552	50159552	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgatcacattcgccctgagGgtcaccagctcttccagcag	8	10	9	14	1	3	2	2	2	1	0	5	2	4	2	3	1	2	2	3	1	0	3	novel		11LU016_TP	11LU016_NB	G	G																c.336C>T	p.=	p.T112T	ENST00000293405	3/7	126	89	37	157	157	0	strelka-varscan-mutect	IZUMO2,synonymous_variant,p.=,ENST00000600293,;IZUMO2,synonymous_variant,p.=,ENST00000293405,NM_152358.2;IZUMO2,3_prime_UTR_variant,,ENST00000486050,;IZUMO2,downstream_gene_variant,,ENST00000594854,;	A	ENST00000293405	Transcript	synonymous_variant	337/728	336/666	112/221	T	acC/acT		1		-1	IZUMO2	HGNC	HGNC:28518	protein_coding	YES	CCDS12792.2	ENSP00000293405	Q6UXV1		UPI00001D6939	NM_152358.2			3/7		hmmpanther:PTHR26374:SF183,hmmpanther:PTHR26374,Pfam_domain:PF15005																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	50159552	50159552	G	A	1	0	0	0	0	0	0	0	1	7841	1219	43	3		3	IZUMO2	19	50159552	Silent	SNP	G	11LU016_TP	3535722	50159552	8458064	550	606											
NR1H2	0	.	GRCh38	chr19	50378575	50378575	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agattcggaaacagcagcagGagtcacagtcacagtcgcag	14	5	12	10	2	2	1	2	0	0	1	4	3	2	3	0	2	3	3	0	2	1	1	rs75450723		11LU016_TP	11LU016_NB	G	G																c.526G>C	p.Glu176Gln	p.E176Q	ENST00000253727	6/10	134	126	8	144	142	2	varscan-mutect	NR1H2,missense_variant,p.Glu176Gln,ENST00000253727,NM_007121.5;NR1H2,missense_variant,p.Glu176Gln,ENST00000598168,;NR1H2,missense_variant,p.Glu176Gln,ENST00000599105,;NR1H2,missense_variant,p.Glu176Gln,ENST00000593926,;NR1H2,missense_variant,p.Glu79Gln,ENST00000411902,NM_001256647.1;NR1H2,missense_variant,p.Glu176Gln,ENST00000597130,;NR1H2,missense_variant,p.Glu176Gln,ENST00000597157,;NR1H2,downstream_gene_variant,,ENST00000597790,;NR1H2,downstream_gene_variant,,ENST00000600355,;NR1H2,missense_variant,p.Arg133Ser,ENST00000593532,;NR1H2,upstream_gene_variant,,ENST00000597085,;NR1H2,downstream_gene_variant,,ENST00000595730,;	C	ENST00000253727	Transcript	missense_variant	761/1998	526/1383	176/460	E/Q	Gag/Cag	rs75450723	1		1	NR1H2	HGNC	HGNC:7965	protein_coding	YES	CCDS42593.1	ENSP00000253727	P55055		UPI000013CDEE	NM_007121.5	tolerated(0.35)		6/10		Low_complexity_(Seg):seg,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF316,Gene3D:1.10.565.10																	MODERATE	1	SNV	1			1										PASS		rs75450723	.												C	3	2	2	50378575	50378575	G	C	1	0	0	0	0	1	0	0	0	10673	1175	41	4		4	NR1H2	19	50378575	Missense_Mutation	SNP	G	11LU016_TP	219023	50378575	8239041	551	607											
SIGLEC9	0	.	GRCh38	chr19	51125692	51125692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccctgggcctgtgagcagGggacaccccctatgatctcc	6	8	12	15	0	1	2	0	2	1	0	2	3	1	3	5	3	2	1	5	3	1	1	novel		11LU016_TP	11LU016_NB	G	G																c.517G>T	p.Gly173Trp	p.G173W	ENST00000440804	2/7	137	93	44	245	245	0	strelka-varscan-mutect	SIGLEC9,missense_variant,p.Gly173Trp,ENST00000440804,NM_001198558.1;SIGLEC9,missense_variant,p.Gly173Trp,ENST00000250360,NM_014441.2;SIGLEC9,upstream_gene_variant,,ENST00000599948,;SIGLEC18P,downstream_gene_variant,,ENST00000602271,;	T	ENST00000440804	Transcript	missense_variant	584/1960	517/1440	173/479	G/W	Ggg/Tgg		1		1	SIGLEC9	HGNC	HGNC:10878	protein_coding	YES	CCDS56100.1	ENSP00000413861	Q9Y336		UPI00017A75A8	NM_001198558.1	deleterious(0)		2/7		PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	2	51125692	51125692	G	T	1	0	0	0	0	1	0	0	0	14579	1232	43	2		2	SIGLEC9	19	51125692	Missense_Mutation	SNP	G	11LU016_TP	747117	51125692	7491924	552	608											
VN1R4	0	.	GRCh38	chr19	53267168	53267168	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgcctcccccagaacaGtatcccaaatcctcgttcac	9	11	5	16	1	1	1	1	0	0	1	5	1	4	1	5	0	2	3	5	0	3	4			11LU016_TP	11LU016_NB	G	G																c.498C>G	p.Tyr166Ter	p.Y166*	ENST00000311170	1/1	88	55	33	96	96	0	strelka-varscan-mutect	VN1R4,stop_gained,p.Tyr166Ter,ENST00000311170,NM_173857.2;CTD-2245F17.9,downstream_gene_variant,,ENST00000599803,;	C	ENST00000311170	Transcript	stop_gained	556/1048	498/906	166/301	Y/*	taC/taG	COSM5338137	1		-1	VN1R4	HGNC	HGNC:19871	protein_coding	YES	CCDS33099.1	ENSP00000310856	Q7Z5H5		UPI000004B23A	NM_173857.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF03402,PROSITE_profiles:PS50262,hmmpanther:PTHR24062,hmmpanther:PTHR24062:SF80,Superfamily_domains:SSF81321											1						HIGH		SNV			1	1										PASS		.	.												C	4	2	2	53267168	53267168	G	C	1	0	0	0	0	0	1	0	0	17728	1024	36	4		4	VN1R4	19	53267168	Nonsense_Mutation	SNP	G	11LU016_TP	2141476	53267168	5350448	553	609											
PRKCG	0	.	GRCh38	chr19	53891806	53891806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaagccacgctaaaccCtgtgtggaatgagacctttg	11	9	12	9	1	0	2	0	2	0	1	0	4	0	3	3	2	2	1	3	2	4	2	novel		11LU016_TP	11LU016_NB	C	C																c.662C>A	p.Pro221His	p.P221H	ENST00000263431	6/18	448	302	146	461	461	0	strelka-varscan-mutect	PRKCG,missense_variant,p.Pro221His,ENST00000263431,NM_002739.3;PRKCG,missense_variant,p.Pro93His,ENST00000474397,;PRKCG,downstream_gene_variant,,ENST00000479081,;PRKCG,downstream_gene_variant,,ENST00000419486,;	A	ENST00000263431	Transcript	missense_variant	944/3133	662/2094	221/697	P/H	cCt/cAt		1		1	PRKCG	HGNC	HGNC:9402	protein_coding	YES	CCDS12867.1	ENSP00000263431	P05129		UPI000000DC69	NM_002739.3	deleterious(0.01)		6/18		PROSITE_profiles:PS50004,hmmpanther:PTHR24356:SF162,hmmpanther:PTHR24356,PIRSF_domain:PIRSF000550,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562,Prints_domain:PR00360																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	53891806	53891806	C	A	1	0	0	0	0	1	0	0	0	12645	681	24	2		2	PRKCG	19	53891806	Missense_Mutation	SNP	C	11LU016_TP	624638	53891806	4725810	554	610											
SBK2	0	.	GRCh38	chr19	55531229	55531229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgactcgatgccaatgcCgtaggccgtcacgatggctg	7	8	13	13	5	1	0	1	0	0	0	2	3	1	0	4	2	3	2	4	2	2	1	rs575501741		11LU016_TP	11LU016_NB	C	C																c.370G>T	p.Gly124Cys	p.G124C	ENST00000413299	3/4	526	462	64	467	467	0	strelka-varscan-mutect	SBK2,missense_variant,p.Gly124Cys,ENST00000413299,NM_001101401.2;SBK2,missense_variant,p.Gly124Cys,ENST00000344158,;	A	ENST00000413299	Transcript	missense_variant	408/1085	370/1047	124/348	G/C	Ggc/Tgc	rs575501741	1		-1	SBK2	HGNC	HGNC:34416	protein_coding	YES	CCDS42631.1	ENSP00000389015	P0C263		UPI00015DFA43	NM_001101401.2	deleterious(0)		3/4		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF167,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		rs575501741	.												A	3	1	2	55531229	55531229	C	A	1	0	0	0	0	1	0	0	0	14125	652	23	1		1	SBK2	19	55531229	Missense_Mutation	SNP	C	11LU016_TP	1639423	55531229	3086387	555	611											
PEG3	0	.	GRCh38	chr19	56816882	56816882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcttccgatgttcagcCaaggcggcactcttattgaa	10	12	9	10	2	3	2	1	2	2	0	4	3	4	2	2	2	1	2	2	2	4	4	novel		11LU016_TP	11LU016_NB	C	C																c.1560G>T	p.Leu520Phe	p.L520F	ENST00000326441	10/10	138	93	45	149	148	1	strelka-varscan-mutect	PEG3,missense_variant,p.Leu520Phe,ENST00000326441,NM_001146186.1,NM_001146184.1,NM_006210.2;PEG3,missense_variant,p.Leu396Phe,ENST00000598410,NM_001146187.1;PEG3,missense_variant,p.Leu520Phe,ENST00000599534,;PEG3,missense_variant,p.Leu520Phe,ENST00000599577,;PEG3,missense_variant,p.Leu394Phe,ENST00000593695,NM_001146185.1;PEG3,missense_variant,p.Leu365Phe,ENST00000600833,;ZIM2,intron_variant,,ENST00000629319,NM_001146326.1,NM_001146327.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000593711,NM_015363.4;ZIM2,intron_variant,,ENST00000601070,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	A	ENST00000326441	Transcript	missense_variant	1924/8723	1560/4767	520/1588	L/F	ttG/ttT		1		-1	PEG3	HGNC	HGNC:8826	protein_coding	YES	CCDS12948.1	ENSP00000326581	Q9GZU2		UPI000006D36D	NM_001146186.1,NM_001146184.1,NM_006210.2	tolerated(0.07)		10/10		Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs757748874	.												A	3	1	2	56816882	56816882	C	A	1	0	0	0	0	1	0	0	0	11808	593	21	2		2	PEG3	19	56816882	Missense_Mutation	SNP	C	11LU016_TP	1285653	56816882	1800734	556	612											
ZSCAN4	0	.	GRCh38	chr19	57676509	57676509	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagattcatagaagacCtgactgatgacagcataaat	16	9	10	6	0	1	6	1	3	0	3	1	8	1	7	1	1	1	1	1	1	4	3			11LU016_TP	11LU016_NB	C	C																c.364C>A	p.Leu122Met	p.L122M	ENST00000318203	3/5	70	47	23	76	76	0	strelka-varscan-mutect	ZSCAN4,missense_variant,p.Leu122Met,ENST00000318203,NM_152677.2;ZSCAN4,missense_variant,p.Leu122Met,ENST00000612521,;	A	ENST00000318203	Transcript	missense_variant	1061/2246	364/1302	122/433	L/M	Ctg/Atg	COSM714164	1		1	ZSCAN4	HGNC	HGNC:23709	protein_coding	YES	CCDS12958.1	ENSP00000321963	Q8NAM6		UPI000006E923	NM_152677.2	deleterious(0)		3/5		Pfam_domain:PF02023,PROSITE_profiles:PS50804,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF45,SMART_domains:SM00431,Superfamily_domains:SSF47353											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	2	57676509	57676509	C	A	1	0	0	0	0	1	0	0	0	18836	680	24	2		2	ZSCAN4	19	57676509	Missense_Mutation	SNP	C	11LU016_TP	859627	57676509	941107	557	613											
ANKEF1	0	.	GRCh38	chr20	10044523	10044523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacgctgctcattttgctGctaaaggaggctttttcgat	8	15	9	9	2	2	0	2	0	0	0	3	2	2	1	0	2	3	5	0	2	2	5	rs755799255		11LU016_TP	11LU016_NB	G	G																c.676G>T	p.Ala226Ser	p.A226S	ENST00000378380	4/10	160	132	28	118	116	2	strelka-varscan-mutect	ANKEF1,missense_variant,p.Ala226Ser,ENST00000378380,NM_198798.2,NM_001303472.1;ANKEF1,missense_variant,p.Ala226Ser,ENST00000378392,NM_022096.5;SNAP25-AS1,intron_variant,,ENST00000603542,;SNAP25-AS1,intron_variant,,ENST00000421143,;ANKEF1,non_coding_transcript_exon_variant,,ENST00000488991,;ANKEF1,downstream_gene_variant,,ENST00000437504,;	T	ENST00000378380	Transcript	missense_variant	1005/5303	676/2331	226/776	A/S	Gct/Tct	rs755799255	1		1	ANKEF1	HGNC	HGNC:15803	protein_coding	YES	CCDS13108.1	ENSP00000367631	Q9NU02		UPI0000125B51	NM_198798.2,NM_001303472.1	tolerated(0.09)		4/10		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24127,hmmpanther:PTHR24127:SF1,Low_complexity_(Seg):seg,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	2			1										PASS		rs755799255	.												T	3	4	2	10044523	10044523	G	T	1	0	0	0	0	1	0	0	0	726	1319	46	2		2	ANKEF1	20	10044523	Missense_Mutation	SNP	G	11LU016_TP		10044523	54399644	558	614											
PAX1	0	.	GRCh38	chr20	21706539	21706539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggagctggcgcagctgGgcatccgaccctgtgacatc	6	9	14	12	2	0	1	0	1	0	0	2	3	1	2	2	3	2	4	2	3	0	1	novel		11LU016_TP	11LU016_NB	G	G																c.388G>T	p.Gly130Cys	p.G130C	ENST00000398485	2/5	250	202	48	249	249	0	strelka-varscan-mutect	PAX1,missense_variant,p.Gly130Cys,ENST00000613128,NM_001257096.1;PAX1,missense_variant,p.Gly130Cys,ENST00000398485,NM_006192.4;PAX1,missense_variant,p.Gly106Cys,ENST00000444366,;RP5-1065O2.4,upstream_gene_variant,,ENST00000624692,;PAX1,intron_variant,,ENST00000460221,;PAX1,upstream_gene_variant,,ENST00000485038,;	T	ENST00000398485	Transcript	missense_variant	442/2838	388/1605	130/534	G/C	Ggc/Tgc		1		1	PAX1	HGNC	HGNC:8615	protein_coding	YES	CCDS13146.2	ENSP00000381499	P15863		UPI000179A786	NM_006192.4	deleterious(0)		2/5		Gene3D:1.10.10.10,Pfam_domain:PF00292,Prints_domain:PR00027,PROSITE_profiles:PS51057,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF262,SMART_domains:SM00351,Superfamily_domains:SSF46689																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	2	21706539	21706539	G	T	1	0	0	0	0	1	0	0	0	11563	1232	43	2		2	PAX1	20	21706539	Missense_Mutation	SNP	G	11LU016_TP	11662016	21706539	42737628	559	615											
TTLL9	0	.	GRCh38	chr20	31871139	31871139	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagggatggtgccatccAgggaagctctgctgggacca	9	7	16	9	0	1	0	0	0	1	0	2	4	2	4	3	5	3	2	3	5	2	1	novel		11LU016_TP	11LU016_NB	A	A																c.13A>T	p.Arg5Trp	p.R5W	ENST00000535842	1/14	243	228	15	173	173	0	strelka-mutect	TTLL9,missense_variant,p.Arg5Trp,ENST00000535842,;TTLL9,missense_variant,p.Arg5Trp,ENST00000375938,NM_001008409.2;DUSP15,upstream_gene_variant,,ENST00000278979,NM_001320479.1;DUSP15,upstream_gene_variant,,ENST00000486996,;DUSP15,upstream_gene_variant,,ENST00000339738,NM_080611.3;DUSP15,upstream_gene_variant,,ENST00000398084,NM_177991.1;DUSP15,upstream_gene_variant,,ENST00000398083,NM_001012644.1;DUSP15,upstream_gene_variant,,ENST00000375966,NM_001320478.1;DUSP15,upstream_gene_variant,,ENST00000428829,;TTLL9,intron_variant,,ENST00000375922,;DUSP15,upstream_gene_variant,,ENST00000493115,;DUSP15,upstream_gene_variant,,ENST00000459848,;TTLL9,missense_variant,p.Arg5Trp,ENST00000375921,;TTLL9,missense_variant,p.Arg5Trp,ENST00000310998,;	T	ENST00000535842	Transcript	missense_variant	13/3261	13/1320	5/439	R/W	Agg/Tgg		1		1	TTLL9	HGNC	HGNC:16118	protein_coding	YES	CCDS42863.1	ENSP00000442515	Q3SXZ7		UPI00001998D0		deleterious_low_confidence(0.01)		1/14																			MODERATE		SNV	5			1										PASS		.	.												T	3	4	2	31871139	31871139	A	T	1	0	0	0	0	1	0	0	0	17244	179	7	4		4	TTLL9	20	31871139	Missense_Mutation	SNP	A	11LU016_TP	10164600	31871139	32573028	560	616											
CEP250	0	.	GRCh38	chr20	35475593	35475593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctggagtcaagtcacctgGaaggggagttactgaggcaa	11	7	14	9	0	2	1	2	1	0	0	2	4	2	4	2	5	1	2	2	5	4	1	novel		11LU016_TP	11LU016_NB	G	G																c.1663G>A	p.Glu555Lys	p.E555K	ENST00000397527	15/35	212	187	25	204	204	0	strelka-varscan-mutect	CEP250,missense_variant,p.Glu555Lys,ENST00000397527,NM_007186.4;CEP250,missense_variant,p.Glu554Lys,ENST00000425934,;CEP250,missense_variant,p.Glu69Lys,ENST00000425096,;RP3-477O4.14,downstream_gene_variant,,ENST00000453914,;RP3-477O4.14,downstream_gene_variant,,ENST00000416260,;RP3-477O4.14,downstream_gene_variant,,ENST00000444933,;CEP250,intron_variant,,ENST00000461386,;CEP250,downstream_gene_variant,,ENST00000474829,;	A	ENST00000397527	Transcript	missense_variant	2383/15703	1663/7329	555/2442	E/K	Gaa/Aaa		1		1	CEP250	HGNC	HGNC:1859	protein_coding	YES	CCDS13255.1	ENSP00000380661	Q9BV73		UPI000006FE8F	NM_007186.4	deleterious(0.01)		15/35		hmmpanther:PTHR23159:SF1,hmmpanther:PTHR23159																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	2	35475593	35475593	G	A	1	0	0	0	0	1	0	0	0	2968	1175	41	3		3	CEP250	20	35475593	Missense_Mutation	SNP	G	11LU016_TP	3604454	35475593	28968574	561	617											
PTPRT	0	.	GRCh38	chr20	42106867	42106867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccccttcattctcggcCatgtcaagcatggtgtcaat	9	11	7	14	1	4	0	3	0	1	0	5	0	4	0	4	2	1	1	4	2	2	2	novel		11LU016_TP	11LU016_NB	C	C																c.3366G>T	p.Met1122Ile	p.M1122I	ENST00000373198	25/32	165	134	31	178	178	0	strelka-varscan-mutect	PTPRT,missense_variant,p.Met1122Ile,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Met1125Ile,ENST00000373193,;PTPRT,missense_variant,p.Met1093Ile,ENST00000373201,;PTPRT,missense_variant,p.Met1102Ile,ENST00000373190,;PTPRT,missense_variant,p.Met1113Ile,ENST00000373184,;PTPRT,missense_variant,p.Met1112Ile,ENST00000356100,;PTPRT,missense_variant,p.Met1103Ile,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Met721Ile,ENST00000612229,;PTPRT,missense_variant,p.Met738Ile,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	A	ENST00000373198	Transcript	missense_variant	3602/12746	3366/4383	1122/1460	M/I	atG/atT		1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	deleterious(0)		25/32		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	2	42106867	42106867	C	A	1	0	0	0	0	1	0	0	0	12967	594	21	2		2	PTPRT	20	42106867	Missense_Mutation	SNP	C	11LU016_TP	6631274	42106867	22337300	562	618											
R3HDML	0	.	GRCh38	chr20	44341217	44341217	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggacaagcggctggccAgggctgccgaagcctgggcc	6	5	17	13	2	1	0	0	0	1	0	1	2	1	1	4	5	3	2	4	5	2	0	novel		11LU016_TP	11LU016_NB	A	A																c.283A>T	p.Arg95Trp	p.R95W	ENST00000217043	2/5	96	68	28	97	97	0	strelka-varscan-mutect	R3HDML,missense_variant,p.Arg95Trp,ENST00000217043,NM_178491.3;Y_RNA,upstream_gene_variant,,ENST00000364493,;	T	ENST00000217043	Transcript	missense_variant	455/1377	283/762	95/253	R/W	Agg/Tgg		1		1	R3HDML	HGNC	HGNC:16249	protein_coding	YES	CCDS13329.1	ENSP00000217043	Q9H3Y0		UPI00000422F8	NM_178491.3	deleterious(0.04)		2/5		Gene3D:3.40.33.10,Pfam_domain:PF00188,Prints_domain:PR00837,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF62,SMART_domains:SM00198,Superfamily_domains:SSF55797																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	44341217	44341217	A	T	1	0	0	0	0	1	0	0	0	13047	179	7	4		4	R3HDML	20	44341217	Missense_Mutation	SNP	A	11LU016_TP	2234350	44341217	20102950	563	619											
NEURL2	0	.	GRCh38	chr20	45890671	45890671	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagacccaggtgtggccCaggttgaccagatcgggcag	9	5	16	11	2	0	3	0	1	0	2	1	4	0	3	3	4	0	2	3	4	1	1	novel		11LU016_TP	11LU016_NB	C	C																c.321G>T	p.=	p.L107L	ENST00000372518	1/2	260	207	53	279	279	0	strelka-varscan-mutect	NEURL2,synonymous_variant,p.=,ENST00000372518,NM_080749.3;CTSA,upstream_gene_variant,,ENST00000372484,NM_000308.2;CTSA,upstream_gene_variant,,ENST00000372459,;CTSA,upstream_gene_variant,,ENST00000191018,NM_001127695.1;CTSA,upstream_gene_variant,,ENST00000354880,NM_001167594.1;SPATA25,upstream_gene_variant,,ENST00000372519,NM_080608.3;CTSA,upstream_gene_variant,,ENST00000419493,;NEURL2,upstream_gene_variant,,ENST00000545238,;CTSA,upstream_gene_variant,,ENST00000607482,;RP3-337O18.9,downstream_gene_variant,,ENST00000607703,;CTSA,5_prime_UTR_variant,,ENST00000606788,;CTSA,upstream_gene_variant,,ENST00000493522,;CTSA,upstream_gene_variant,,ENST00000485627,;CTSA,upstream_gene_variant,,ENST00000606066,;CTSA,upstream_gene_variant,,ENST00000607212,;CTSA,upstream_gene_variant,,ENST00000606394,;CTSA,upstream_gene_variant,,ENST00000607814,;CTSA,upstream_gene_variant,,ENST00000606782,;CTSA,upstream_gene_variant,,ENST00000607841,;CTSA,upstream_gene_variant,,ENST00000480961,;	A	ENST00000372518	Transcript	synonymous_variant	617/1278	321/858	107/285	L	ctG/ctT		1		-1	NEURL2	HGNC	HGNC:16156	protein_coding	YES	CCDS13384.1	ENSP00000361596	Q9BR09		UPI000003499E	NM_080749.3			1/2		PROSITE_profiles:PS51065,hmmpanther:PTHR12429,SMART_domains:SM00588																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	45890671	45890671	C	A	1	0	0	0	0	0	0	0	1	10382	581	21	2		2	NEURL2	20	45890671	Silent	SNP	C	11LU016_TP	1549454	45890671	18553496	564	620											
SPATA2	0	.	GRCh38	chr20	49906166	49906166	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctgggttcagagtctGtgtacagatccacgtcatcc	7	11	11	12	1	3	2	2	0	1	2	5	2	5	2	3	2	1	2	3	2	1	2	novel		11LU016_TP	11LU016_NB	G	G																c.1016C>G	p.Thr339Arg	p.T339R	ENST00000422556	3/3	46	41	5	45	45	0	strelka-varscan-mutect	SPATA2,missense_variant,p.Thr339Arg,ENST00000422556,NM_001135773.1;SPATA2,missense_variant,p.Thr339Arg,ENST00000289431,NM_006038.3;	C	ENST00000422556	Transcript	missense_variant	1366/4138	1016/1563	339/520	T/R	aCa/aGa		1		-1	SPATA2	HGNC	HGNC:14681	protein_coding	YES	CCDS13422.1	ENSP00000416799	Q9UM82		UPI000013557F	NM_001135773.1	deleterious(0)		3/3		hmmpanther:PTHR15326,hmmpanther:PTHR15326:SF8																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	2	49906166	49906166	G	C	1	0	0	0	0	1	0	0	0	15335	1377	48	4		4	SPATA2	20	49906166	Missense_Mutation	SNP	G	11LU016_TP	4015495	49906166	14538001	565	621											
CASS4	0	.	GRCh38	chr20	56458612	56458612	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcagcagtcacctctgcagCctgctcaaggacgtagcgct	8	7	12	14	2	3	0	2	0	1	0	3	1	3	1	2	2	5	6	2	2	2	1	rs767407539		11LU016_TP	11LU016_NB	C	C																c.2226C>A	p.Ser742Arg	p.S742R	ENST00000360314	7/7	193	177	16	209	208	1	strelka-varscan-mutect	CASS4,missense_variant,p.Ser305Arg,ENST00000434344,NM_001164115.1;CASS4,missense_variant,p.Ser742Arg,ENST00000360314,NM_001164116.1,NM_020356.3,NM_001164114.1;CASS4,downstream_gene_variant,,ENST00000497244,;RPL39P,downstream_gene_variant,,ENST00000450188,;	A	ENST00000360314	Transcript	missense_variant	2451/2619	2226/2361	742/786	S/R	agC/agA	rs767407539	1		1	CASS4	HGNC	HGNC:15878	protein_coding	YES	CCDS33492.1	ENSP00000353462	Q9NQ75		UPI00001285DB	NM_001164116.1,NM_020356.3,NM_001164114.1	deleterious(0.01)		7/7		hmmpanther:PTHR10654:SF19,hmmpanther:PTHR10654,Pfam_domain:PF12026																	MODERATE	1	SNV	1			1										PASS		rs767407539	.												A	3	1	2	56458612	56458612	C	A	1	0	0	0	0	1	0	0	0	2382	738	26	2		2	CASS4	20	56458612	Missense_Mutation	SNP	C	11LU016_TP	6552446	56458612	7985555	566	622											
C20orf85	0	.	GRCh38	chr20	58155543	58155543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgtttccgcatccggccgGtgaccccagtggagaagtac	8	7	13	13	4	0	2	0	1	0	1	2	3	2	2	5	3	2	3	5	3	2	2	novel		11LU016_TP	11LU016_NB	G	G																c.226G>T	p.Val76Leu	p.V76L	ENST00000371168	3/4	224	209	15	238	236	2	strelka-varscan-mutect	C20orf85,missense_variant,p.Val76Leu,ENST00000371168,NM_178456.2;	T	ENST00000371168	Transcript	missense_variant	287/803	226/414	76/137	V/L	Gtg/Ttg		1		1	C20orf85	HGNC	HGNC:16216	protein_coding	YES	CCDS13465.1	ENSP00000360210	Q9H1P6		UPI00001285EF	NM_178456.2	tolerated(0.1)		3/4		PD297655,Pfam_domain:PF14945,hmmpanther:PTHR31909,hmmpanther:PTHR31909:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	58155543	58155543	G	T	1	0	0	0	0	1	0	0	0	2010	1261	44	2		2	C20orf85	20	58155543	Missense_Mutation	SNP	G	11LU016_TP	1696931	58155543	6288624	567	623											
CDH4	0	.	GRCh38	chr20	61928338	61928338	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcggccgacgctgacgtCgaccccaacatcggccccta	8	4	11	18	7	0	1	0	1	0	0	2	3	0	1	5	3	1	1	5	3	2	1	rs371805176		11LU016_TP	11LU016_NB	C	C																c.1920C>A	p.=	p.V640V	ENST00000614565	12/16	591	490	101	480	480	0	strelka-varscan-mutect	CDH4,synonymous_variant,p.=,ENST00000614565,NM_001794.4;CDH4,synonymous_variant,p.=,ENST00000611855,;CDH4,synonymous_variant,p.=,ENST00000543233,NM_001252338.2,NM_001252339.2;	A	ENST00000614565	Transcript	synonymous_variant	2008/6513	1920/2751	640/916	V	gtC/gtA	rs371805176	1		1	CDH4	HGNC	HGNC:1763	protein_coding	YES	CCDS13488.1	ENSP00000484928	P55283		UPI000015FE86	NM_001794.4			12/16		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF81,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs371805176	.												A	2	1	2	61928338	61928338	C	A	1	0	0	0	0	0	0	0	1	2815	871	31	1		1	CDH4	20	61928338	Silent	SNP	C	11LU016_TP	3772795	61928338	2515829	568	624											
HELZ2	0	.	GRCh38	chr20	63566892	63566892	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctctgctcgcggccgccCcagcagctgggccaggtgtt	4	7	13	17	3	1	0	0	0	1	0	2	0	1	0	5	3	3	4	5	3	0	1	rs200398296		11LU016_TP	11LU016_NB	C	C																c.2466G>C	p.Trp822Cys	p.W822C	ENST00000467148	6/19	102	81	21	99	99	0	strelka-varscan-mutect	HELZ2,missense_variant,p.Trp822Cys,ENST00000467148,NM_001037335.2;HELZ2,missense_variant,p.Trp253Cys,ENST00000427522,NM_033405.3;HELZ2,downstream_gene_variant,,ENST00000479540,;HELZ2,downstream_gene_variant,,ENST00000454223,;HELZ2,downstream_gene_variant,,ENST00000370082,;	G	ENST00000467148	Transcript	missense_variant	2536/8064	2466/7950	822/2649	W/C	tgG/tgC	rs200398296	1		-1	HELZ2	HGNC	HGNC:30021	protein_coding	YES	CCDS33508.1	ENSP00000417401	Q9BYK8		UPI0000246BF7	NM_001037335.2	deleterious(0)		6/19		Pfam_domain:PF13087,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs200398296	.												G	3	3	2	63566892	63566892	C	G	1	0	0	0	0	1	0	0	0	6932	624	22	4		4	HELZ2	20	63566892	Missense_Mutation	SNP	C	11LU016_TP	1638554	63566892	877275	569	625											
NPBWR2	0	.	GRCh38	chr20	64106520	64106520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccagtactgcagcaggtgCtccgcgatgttgacgggcag	7	7	16	11	3	0	1	0	1	0	0	1	2	1	1	2	3	4	6	2	3	1	2	novel		11LU016_TP	11LU016_NB	C	C																c.312G>T	p.Glu104Asp	p.E104D	ENST00000369768	1/1	187	147	40	192	192	0	strelka-varscan-mutect	NPBWR2,missense_variant,p.Glu104Asp,ENST00000369768,NM_005286.2;	A	ENST00000369768	Transcript	missense_variant	652/1352	312/1002	104/333	E/D	gaG/gaT		1		-1	NPBWR2	HGNC	HGNC:4530	protein_coding	YES	CCDS13557.1	ENSP00000358783	P48146		UPI000013CBB3	NM_005286.2	tolerated(0.81)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF18,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01855																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	2	64106520	64106520	C	A	1	0	0	0	0	1	0	0	0	10617	796	28	2		2	NPBWR2	20	64106520	Missense_Mutation	SNP	C	11LU016_TP	539628	64106520	337647	570	626											
GART	0	.	GRCh38	chr21	33534679	33534679	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttggcaaaccttttgcTggactctaactgagccgctt	7	14	8	12	1	2	1	0	1	2	0	2	2	2	2	2	2	4	3	2	2	2	5	rs755704506		11LU016_TP	11LU016_NB	T	T																c.316A>T	p.Ser106Cys	p.S106C	ENST00000381831	4/22	98	86	12	124	124	0	strelka-varscan-mutect	GART,missense_variant,p.Ser106Cys,ENST00000381831,NM_001136005.1;GART,missense_variant,p.Ser106Cys,ENST00000381839,NM_001136006.1;GART,missense_variant,p.Ser106Cys,ENST00000381815,NM_000819.4;GART,missense_variant,p.Ser106Cys,ENST00000361093,NM_175085.2;GART,missense_variant,p.Ser106Cys,ENST00000430874,;GART,missense_variant,p.Ser106Cys,ENST00000426819,;GART,missense_variant,p.Ser106Cys,ENST00000441403,;GART,missense_variant,p.Ser106Cys,ENST00000438059,;GART,non_coding_transcript_exon_variant,,ENST00000497313,;GART,missense_variant,p.Ser106Cys,ENST00000424203,;GART,non_coding_transcript_exon_variant,,ENST00000476524,;GART,upstream_gene_variant,,ENST00000366093,;GART,upstream_gene_variant,,ENST00000488791,;GART,upstream_gene_variant,,ENST00000466882,;	A	ENST00000381831	Transcript	missense_variant	580/3490	316/3033	106/1010	S/C	Agc/Tgc	rs755704506	1		-1	GART	HGNC	HGNC:4163	protein_coding	YES	CCDS13627.1	ENSP00000371253	P22102		UPI0000132A2A	NM_001136005.1	deleterious(0)		4/22		HAMAP:MF_00138,hmmpanther:PTHR10520:SF38,hmmpanther:PTHR10520,TIGRFAM_domain:TIGR00877,Pfam_domain:PF01071,SMART_domains:SM01209,Superfamily_domains:SSF56059																	MODERATE	1	SNV	1			1										PASS		rs755704506	.												A	3	1	2	33534679	33534679	T	A	1	0	0	0	0	1	0	0	0	6113	1580	55	4		4	GART	21	33534679	Missense_Mutation	SNP	T	11LU016_TP		33534679	13175304	571	627											
COL18A1	0	.	GRCh38	chr21	45455962	45455962	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagggcggaaaccctggtCctggagactcctgtgggccc	6	6	15	14	1	0	1	0	0	0	1	2	3	2	2	5	5	1	0	5	5	1	0	novel		11LU016_TP	11LU016_NB	C	C																c.432C>A	p.=	p.V144V	ENST00000359759	1/41	293	243	50	291	291	0	strelka-varscan-mutect	COL18A1,synonymous_variant,p.=,ENST00000359759,NM_130444.2;COL18A1,synonymous_variant,p.=,ENST00000355480,NM_030582.3;COL18A1,intron_variant,,ENST00000400337,NM_130445.3;	A	ENST00000359759	Transcript	synonymous_variant	432/6586	432/5265	144/1754	V	gtC/gtA		1		1	COL18A1	HGNC	HGNC:2195	protein_coding	YES	CCDS77643.1	ENSP00000352798	P39060		UPI0001838820	NM_130444.2			1/41		Pfam_domain:PF06121																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	2	45455962	45455962	C	A	1	0	0	0	0	0	0	0	1	3463	842	30	2		2	COL18A1	21	45455962	Silent	SNP	C	11LU016_TP	11921283	45455962	1254021	572	628											
GAB4	0	.	GRCh38	chr22	16964839	16964839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtggagatggggtgttggGaggagctggagtcaaaggtg	8	8	22	3	1	1	1	1	0	0	1	1	5	1	4	0	7	1	2	0	7	1	1	rs769919538		11LU016_TP	11LU016_NB	G	G																c.1403C>A	p.Ser468Tyr	p.S468Y	ENST00000400588	8/10	109	102	7	133	133	0	strelka-varscan-mutect	GAB4,missense_variant,p.Ser468Tyr,ENST00000400588,NM_001037814.1;AC006548.28,non_coding_transcript_exon_variant,,ENST00000623130,;GAB4,downstream_gene_variant,,ENST00000523144,;GAB4,downstream_gene_variant,,ENST00000520505,;GAB4,3_prime_UTR_variant,,ENST00000465611,;	T	ENST00000400588	Transcript	missense_variant	1511/2630	1403/1725	468/574	S/Y	tCc/tAc	rs769919538	1		-1	GAB4	HGNC	HGNC:18325	protein_coding	YES	CCDS42976.1	ENSP00000383431	Q2WGN9		UPI00002326B5	NM_001037814.1	tolerated(0.1)		8/10		hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF20,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs769919538	.												T	3	4	2	16964839	16964839	G	T	1	0	0	0	0	1	0	0	0	6022	1174	41	2		2	GAB4	22	16964839	Missense_Mutation	SNP	G	11LU016_TP		16964839	33853629	573	629											
MICAL3	0	.	GRCh38	chr22	17818128	17818128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgctctccacaaacgaCttccgcacctcctctctggg	7	9	6	19	3	2	0	0	0	2	0	7	1	5	0	5	1	1	2	5	1	1	1	novel		11LU016_TP	11LU016_NB	C	C																c.4533G>T	p.Lys1511Asn	p.K1511N	ENST00000441493	26/32	395	332	63	364	364	0	strelka-varscan-mutect	MICAL3,missense_variant,p.Lys1511Asn,ENST00000441493,NM_015241.2;MICAL3,upstream_gene_variant,,ENST00000577821,;MICAL3,downstream_gene_variant,,ENST00000498573,;MICAL3,downstream_gene_variant,,ENST00000578984,;MICAL3,upstream_gene_variant,,ENST00000579997,;MICAL3,upstream_gene_variant,,ENST00000580469,;	A	ENST00000441493	Transcript	missense_variant	4886/9445	4533/6009	1511/2002	K/N	aaG/aaT		1		-1	MICAL3	HGNC	HGNC:24694	protein_coding	YES	CCDS46659.1	ENSP00000416015	Q7RTP6		UPI0001823FDE	NM_015241.2	deleterious_low_confidence(0)		26/32		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF239																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	2	17818128	17818128	C	A	1	0	0	0	0	1	0	0	0	9528	564	20	2		2	MICAL3	22	17818128	Missense_Mutation	SNP	C	11LU016_TP	853289	17818128	33000340	574	630											
DGCR2	0	.	GRCh38	chr22	19068165	19068165	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggtcgcctcctctggccCgcccctgccgcggatccaca	5	6	11	19	4	1	0	0	0	1	0	4	1	3	1	7	3	1	0	7	3	1	0	rs759947288		11LU016_TP	11LU016_NB	C	C																c.263G>T	p.Arg88Leu	p.R88L	ENST00000263196	3/10	71	62	9	107	107	0	strelka-varscan-mutect	DGCR2,missense_variant,p.Arg88Leu,ENST00000545799,;DGCR2,missense_variant,p.Arg88Leu,ENST00000263196,NM_005137.2,NM_001184781.1;DGCR2,missense_variant,p.Arg47Leu,ENST00000537045,NM_001173534.1,NM_001173533.1;DGCR2,upstream_gene_variant,,ENST00000473832,;DGCR2,upstream_gene_variant,,ENST00000608548,;DGCR2,5_prime_UTR_variant,,ENST00000389262,;	A	ENST00000263196	Transcript	missense_variant	511/4480	263/1653	88/550	R/L	cGg/cTg	rs759947288	1		-1	DGCR2	HGNC	HGNC:2845	protein_coding	YES	CCDS33598.1	ENSP00000263196	P98153		UPI0000001613	NM_005137.2,NM_001184781.1	deleterious_low_confidence(0.01)		3/10		hmmpanther:PTHR15256																	MODERATE	1	SNV	1			1										PASS		rs759947288	.												A	3	1	2	19068165	19068165	C	A	1	0	0	0	0	1	0	0	0	4268	652	23	1		1	DGCR2	22	19068165	Missense_Mutation	SNP	C	11LU016_TP	1250037	19068165	31750303	575	631											
AIFM3	0	.	GRCh38	chr22	20976262	20976262	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcgtgttcaaggatggCttcaagctggagtacagcaa	12	9	13	7	1	2	0	2	0	0	0	3	2	2	2	0	4	3	5	0	4	5	3	novel		11LU016_TP	11LU016_NB	C	C																c.855C>A	p.=	p.G285G	ENST00000399167	10/21	266	252	14	358	358	0	strelka-varscan-mutect	AIFM3,synonymous_variant,p.=,ENST00000399167,NM_144704.2;AIFM3,synonymous_variant,p.=,ENST00000440238,;AIFM3,synonymous_variant,p.=,ENST00000405089,NM_001146288.1;AIFM3,synonymous_variant,p.=,ENST00000399163,NM_001018060.2;AIFM3,downstream_gene_variant,,ENST00000434714,;AIFM3,downstream_gene_variant,,ENST00000441376,;AIFM3,non_coding_transcript_exon_variant,,ENST00000465606,;AIFM3,non_coding_transcript_exon_variant,,ENST00000483107,;LZTR1,upstream_gene_variant,,ENST00000479606,;AIFM3,downstream_gene_variant,,ENST00000468124,;AIFM3,downstream_gene_variant,,ENST00000496097,;AIFM3,upstream_gene_variant,,ENST00000486003,;AIFM3,downstream_gene_variant,,ENST00000417515,;AIFM3,downstream_gene_variant,,ENST00000484206,;AIFM3,downstream_gene_variant,,ENST00000472575,;AIFM3,downstream_gene_variant,,ENST00000467926,;AIFM3,downstream_gene_variant,,ENST00000426113,;	A	ENST00000399167	Transcript	synonymous_variant	1095/2387	855/1818	285/605	G	ggC/ggA		1		1	AIFM3	HGNC	HGNC:26398	protein_coding	YES	CCDS13786.1	ENSP00000382120	Q96NN9		UPI0000071A61	NM_144704.2			10/21		Gene3D:3.50.50.60,Pfam_domain:PF07992,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF174,Superfamily_domains:SSF51905																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	2	20976262	20976262	C	A	1	0	0	0	0	0	0	0	1	505	784	28	2		2	AIFM3	22	20976262	Silent	SNP	C	11LU016_TP	1908097	20976262	29842206	576	632											
PRAME	0	.	GRCh38	chr22	22548152	22548152	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggacaggggttggcactaAgccagaccatgctgggccgc	9	5	16	11	1	0	1	0	0	0	1	0	3	0	2	3	5	2	3	3	5	1	2			11LU016_TP	11LU016_NB	A	A																c.1445T>G	p.Leu482Arg	p.L482R	ENST00000543184	5/5	161	147	14	237	237	0	strelka-mutect	PRAME,missense_variant,p.Leu482Arg,ENST00000543184,NM_206953.2;PRAME,missense_variant,p.Leu482Arg,ENST00000398741,NM_206955.2;PRAME,missense_variant,p.Leu482Arg,ENST00000398743,NM_206954.2,NM_001291715.1,NM_006115.4;PRAME,missense_variant,p.Leu482Arg,ENST00000405655,NM_206956.2,NM_001291716.1;PRAME,missense_variant,p.Leu482Arg,ENST00000402697,;PRAME,downstream_gene_variant,,ENST00000439106,;PRAME,downstream_gene_variant,,ENST00000406503,;PRAME,downstream_gene_variant,,ENST00000420709,;PRAME,downstream_gene_variant,,ENST00000403441,;PRAME,downstream_gene_variant,,ENST00000438888,;PRAME,downstream_gene_variant,,ENST00000485532,;PRAME,downstream_gene_variant,,ENST00000476336,;PRAME,non_coding_transcript_exon_variant,,ENST00000492657,;PRAME,downstream_gene_variant,,ENST00000442481,;	C	ENST00000543184	Transcript	missense_variant	2308/2758	1445/1530	482/509	L/R	cTt/cGt	COSM5172792	1		-1	PRAME	HGNC	HGNC:9336	protein_coding	YES	CCDS13801.1	ENSP00000445675	P78395	A0A024R1E6	UPI0000000DDA	NM_206953.2	deleterious(0)		5/5		hmmpanther:PTHR14224:SF4,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	2	22548152	22548152	A	C	1	0	0	0	0	1	0	0	0	12553	72	3	5		5	PRAME	22	22548152	Missense_Mutation	SNP	A	11LU016_TP	1571890	22548152	28270316	577	633											
SEZ6L	0	.	GRCh38	chr22	26299066	26299066	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcactcaggtggggtggcCcactttcactgccacctggg	5	9	13	14	0	2	0	2	0	0	0	2	0	2	0	3	5	2	1	3	5	0	1	novel		11LU016_TP	11LU016_NB	C	C																c.1245C>A	p.=	p.A415A	ENST00000248933	5/17	69	62	7	102	102	0	strelka-varscan-mutect	SEZ6L,synonymous_variant,p.=,ENST00000529632,NM_001184775.1;SEZ6L,synonymous_variant,p.=,ENST00000360929,NM_001184776.1;SEZ6L,synonymous_variant,p.=,ENST00000404234,NM_001184773.1;SEZ6L,synonymous_variant,p.=,ENST00000402979,;SEZ6L,synonymous_variant,p.=,ENST00000248933,NM_021115.4;SEZ6L,synonymous_variant,p.=,ENST00000629590,NM_001184774.1;SEZ6L,synonymous_variant,p.=,ENST00000403121,;SEZ6L,synonymous_variant,p.=,ENST00000343706,NM_001184777.1;	A	ENST00000248933	Transcript	synonymous_variant	1340/3248	1245/3075	415/1024	A	gcC/gcA		1		1	SEZ6L	HGNC	HGNC:10763	protein_coding	YES	CCDS13833.1	ENSP00000248933	Q9BYH1		UPI0000136779	NM_021115.4			5/17		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	2	26299066	26299066	C	A	1	0	0	0	0	0	0	0	1	14422	610	22	2		2	SEZ6L	22	26299066	Silent	SNP	C	11LU016_TP	3750914	26299066	24519402	578	634											
SLC5A4	0	.	GRCh38	chr22	32255291	32255291	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacaatggaggtggctctggGgtctcagctatggtgctggg	6	10	18	7	0	2	0	1	0	2	0	3	2	2	1	0	7	2	3	0	7	2	1	novel		11LU016_TP	11LU016_NB	G	G																c.39C>A	p.=	p.T13T	ENST00000266086	1/15	174	156	18	196	196	0	strelka-varscan-mutect	SLC5A4,synonymous_variant,p.=,ENST00000266086,NM_014227.2;RP1-90G24.10,intron_variant,,ENST00000434942,;	T	ENST00000266086	Transcript	synonymous_variant	51/2030	39/1980	13/659	T	acC/acA		1		-1	SLC5A4	HGNC	HGNC:11039	protein_coding	YES	CCDS13903.1	ENSP00000266086	Q9NY91		UPI00001359F4	NM_014227.2			1/15																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	32255291	32255291	G	T	1	0	0	0	0	0	0	0	1	14950	1219	43	2		2	SLC5A4	22	32255291	Silent	SNP	G	11LU016_TP	5956225	32255291	18563177	579	635											
RFPL3	0	.	GRCh38	chr22	32358126	32358126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcacctcaaggaaattttCttcccttgtgtacttttccc	7	18	4	12	0	3	0	2	0	1	0	5	1	5	1	3	1	1	1	3	1	3	8	rs775799598		11LU016_TP	11LU016_NB	C	C																c.55C>A	p.Leu19Ile	p.L19I	ENST00000249007	1/2	128	112	16	179	179	0	strelka-varscan-mutect	RFPL3,missense_variant,p.Leu19Ile,ENST00000249007,NM_001098535.1;RFPL3,intron_variant,,ENST00000397468,NM_006604.2;RFPL3S,downstream_gene_variant,,ENST00000400234,;RFPL3S,downstream_gene_variant,,ENST00000382084,;RFPL3S,downstream_gene_variant,,ENST00000577714,;RFPL3S,downstream_gene_variant,,ENST00000382086,;RFPL3S,downstream_gene_variant,,ENST00000621921,;RFPL3-AS1_1,upstream_gene_variant,,ENST00000617561,;RFPL3S,downstream_gene_variant,,ENST00000461833,;IGLCOR22-2,upstream_gene_variant,,ENST00000605398,;	A	ENST00000249007	Transcript	missense_variant	260/1488	55/954	19/317	L/I	Ctt/Att	rs775799598	1		1	RFPL3	HGNC	HGNC:9980	protein_coding	YES	CCDS43011.1	ENSP00000249007	O75679		UPI000013CC68	NM_001098535.1	tolerated_low_confidence(0.35)		1/2																			MODERATE	1	SNV	1			1										PASS		rs775799598	.												A	3	1	2	32358126	32358126	C	A	1	0	0	0	0	1	0	0	0	13426	913	32	2		2	RFPL3	22	32358126	Missense_Mutation	SNP	C	11LU016_TP	102835	32358126	18460342	580	636											
PLA2G6	0	.	GRCh38	chr22	38148550	38148551	+	Frame_Shift_Ins	INS	-	-	A																															gttcaggtggctgttactggINSagaggatgggcagacgagca																								novel		11LU016_TP	11LU016_NB	-	-																c.282dupT	p.Pro95SerfsTer20	p.P95Sfs*20	ENST00000435484	3/4	150	129	21	235	235	0	sindel-varindel	PLA2G6,frameshift_variant,p.Pro95SerfsTer20,ENST00000435484,;PLA2G6,frameshift_variant,p.Pro95SerfsTer20,ENST00000447598,;PLA2G6,frameshift_variant,p.Pro95SerfsTer20,ENST00000417303,;PLA2G6,intron_variant,,ENST00000332509,NM_003560.2;PLA2G6,intron_variant,,ENST00000335539,NM_001004426.1;PLA2G6,intron_variant,,ENST00000402064,NM_001199562.1;PLA2G6,intron_variant,,ENST00000430886,;PLA2G6,intron_variant,,ENST00000436218,;PLA2G6,intron_variant,,ENST00000455341,;PLA2G6,upstream_gene_variant,,ENST00000427114,;CTA-228A9.4,non_coding_transcript_exon_variant,,ENST00000624072,;PLA2G6,non_coding_transcript_exon_variant,,ENST00000420435,;PLA2G6,intron_variant,,ENST00000479641,;PLA2G6,intron_variant,,ENST00000445591,;PLA2G6,intron_variant,,ENST00000452972,;PLA2G6,intron_variant,,ENST00000426674,;PLA2G6,intron_variant,,ENST00000471636,;	A	ENST00000435484	Transcript	frameshift_variant	492-493/612	282-283/300	94-95/99	-/X	-/T		1		-1	PLA2G6	HGNC	HGNC:9039	protein_coding			ENSP00000413597		F2Z3G2	UPI000173A307				3/4		Low_complexity_(Seg):seg																	HIGH		insertion	4			1										PASS		.	.												A	7	5	2	38148550	38148550	-	A	1	0	1	1	0	0	0	0	0	12104	1174	41	0		0	PLA2G6	22	38148550	Frame_Shift_Ins	INS	-	11LU016_TP	5790424	38148550	12669918	581	637	15	2									
PLA2G6	0	.	GRCh38	chr22	38148552	38148552	+	Missense_Mutation	SNP	G	G	A																															ttcaggtggctgttactggaGaggatgggcagacgagcagc																								novel		11LU016_TP	11LU016_NB	G	G																c.281C>T	p.Ser94Phe	p.S94F	ENST00000435484	3/4	158	135	23	238	238	0	strelka-mutect	PLA2G6,missense_variant,p.Ser94Phe,ENST00000435484,;PLA2G6,missense_variant,p.Ser94Phe,ENST00000447598,;PLA2G6,missense_variant,p.Ser94Phe,ENST00000417303,;PLA2G6,intron_variant,,ENST00000332509,NM_003560.2;PLA2G6,intron_variant,,ENST00000335539,NM_001004426.1;PLA2G6,intron_variant,,ENST00000402064,NM_001199562.1;PLA2G6,intron_variant,,ENST00000430886,;PLA2G6,intron_variant,,ENST00000436218,;PLA2G6,intron_variant,,ENST00000455341,;PLA2G6,upstream_gene_variant,,ENST00000427114,;CTA-228A9.4,non_coding_transcript_exon_variant,,ENST00000624072,;PLA2G6,non_coding_transcript_exon_variant,,ENST00000420435,;PLA2G6,intron_variant,,ENST00000479641,;PLA2G6,intron_variant,,ENST00000445591,;PLA2G6,intron_variant,,ENST00000452972,;PLA2G6,intron_variant,,ENST00000426674,;PLA2G6,intron_variant,,ENST00000471636,;	A	ENST00000435484	Transcript	missense_variant	491/612	281/300	94/99	S/F	tCt/tTt		1		-1	PLA2G6	HGNC	HGNC:9039	protein_coding			ENSP00000413597		F2Z3G2	UPI000173A307				3/4		Low_complexity_(Seg):seg																	MODERATE		SNV	4			1										PASS		.	.												A	3	1	2	38148552	38148552	G	A	1	0	0	0	0	1	0	0	0	12104	942	33	3		3	PLA2G6	22	38148552	Missense_Mutation	SNP	G	11LU016_TP	2	38148552	12669916	582	638	15	2									
TTLL1	0	.	GRCh38	chr22	43051831	43051831	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggcttcagcttgtcgtcGatgatgatgtcgtagccata	8	12	12	9	3	1	2	1	2	0	0	4	3	1	2	1	1	2	3	1	1	2	4	rs756215079		11LU016_TP	11LU016_NB	G	G																c.948C>T	p.=	p.I316I	ENST00000266254	9/11	237	207	30	264	264	0	strelka-varscan-mutect	TTLL1,synonymous_variant,p.=,ENST00000266254,NM_012263.4;TTLL1,intron_variant,,ENST00000331018,;AL022476.2,intron_variant,,ENST00000443063,;TTLL1,3_prime_UTR_variant,,ENST00000440761,;TTLL1,3_prime_UTR_variant,,ENST00000439248,;	A	ENST00000266254	Transcript	synonymous_variant	1189/1645	948/1272	316/423	I	atC/atT	rs756215079,COSM1495272	1		-1	TTLL1	HGNC	HGNC:1312	protein_coding	YES	CCDS14043.1	ENSP00000266254	O95922	A0A024R4U6	UPI00001377A7	NM_012263.4			9/11		Pfam_domain:PF03133,PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF31,Superfamily_domains:SSF56059											0,1						LOW	1	SNV	1		0,1	1										PASS		rs756215079	.												A	2	1	2	43051831	43051831	G	A	1	0	0	0	0	0	0	0	1	17234	1048	37	1		1	TTLL1	22	43051831	Silent	SNP	G	11LU016_TP	4903279	43051831	7766637	583	639											
EFCAB6	0	.	GRCh38	chr22	43683749	43683749	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctttcaaaatcttacagTgttgattatcagtaatgctt	12	16	7	6	0	3	1	2	1	1	0	3	1	3	1	0	1	2	4	0	1	5	6			11LU016_TP	11LU016_NB	T	T																c.1249A>T	p.Thr417Ser	p.T417S	ENST00000262726	12/32	95	79	16	83	83	0	strelka-varscan-mutect	EFCAB6,missense_variant,p.Thr417Ser,ENST00000262726,NM_022785.3;EFCAB6,missense_variant,p.Thr265Ser,ENST00000396231,NM_198856.2;EFCAB6,non_coding_transcript_exon_variant,,ENST00000404038,;	A	ENST00000262726	Transcript	missense_variant,splice_region_variant	1503/4869	1249/4506	417/1501	T/S	Act/Tct	COSM244204	1		-1	EFCAB6	HGNC	HGNC:24204	protein_coding	YES	CCDS14049.1	ENSP00000262726	Q5THR3		UPI0000225CD7	NM_022785.3	tolerated(0.74)		12/32		Gene3D:1.10.238.10,PROSITE_profiles:PS50222,Superfamily_domains:SSF47473											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	2	43683749	43683749	T	A	1	0	0	0	0	1	0	0	0	4773	1710	59	4		4	EFCAB6	22	43683749	Missense_Mutation	SNP	T	11LU016_TP	631918	43683749	7134719	584	640											
PNPLA5	0	.	GRCh38	chr22	43891107	43891107	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagtgaccaagaagttGcgtccgtcaggccagcgggt	10	7	14	10	3	2	2	2	1	0	1	3	2	3	2	3	2	2	1	3	2	3	1	novel		11LU016_TP	11LU016_NB	G	G																c.381C>A	p.=	p.R127R	ENST00000216177	2/9	76	68	8	106	106	0	strelka-varscan-mutect	PNPLA5,synonymous_variant,p.=,ENST00000216177,NM_138814.3;PNPLA5,synonymous_variant,p.=,ENST00000597664,;PNPLA5,synonymous_variant,p.=,ENST00000438734,;PNPLA5,intron_variant,,ENST00000593866,NM_001177675.1;PNPLA5,intron_variant,,ENST00000381198,;	T	ENST00000216177	Transcript	synonymous_variant	514/2539	381/1290	127/429	R	cgC/cgA		1		-1	PNPLA5	HGNC	HGNC:24888	protein_coding	YES	CCDS14053.1	ENSP00000216177	Q7Z6Z6		UPI000006D0C8	NM_138814.3			2/9		Pfam_domain:PF01734,hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF4,Superfamily_domains:SSF52151																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	43891107	43891107	G	T	1	0	0	0	0	0	0	0	1	12276	1306	46	2		2	PNPLA5	22	43891107	Silent	SNP	G	11LU016_TP	207358	43891107	6927361	585	641											
PHF21B	0	.	GRCh38	chr22	44920399	44920399	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccgagggctgcttaccTgaggtagcactgccgctcct	5	8	12	16	3	0	1	0	1	0	0	1	2	1	1	5	2	4	5	5	2	2	2	novel		11LU016_TP	11LU016_NB	T	T																c.212A>C	p.Gln71Pro	p.Q71P	ENST00000313237	3/13	65	57	8	124	124	0	strelka-varscan-mutect	PHF21B,missense_variant,p.Gln71Pro,ENST00000313237,NM_138415.4;PHF21B,missense_variant,p.Gln59Pro,ENST00000396103,NM_001242450.1;PHF21B,missense_variant,p.Gln71Pro,ENST00000629843,NM_001135862.2;PHF21B,missense_variant,p.Gln59Pro,ENST00000420689,;PHF21B,splice_region_variant,,ENST00000403565,NM_001284296.1;PHF21B,intron_variant,,ENST00000414269,;PHF21B,splice_region_variant,,ENST00000490679,;PHF21B,splice_region_variant,,ENST00000460507,;PHF21B,splice_region_variant,,ENST00000474327,;	G	ENST00000313237	Transcript	missense_variant,splice_region_variant	363/3671	212/1596	71/531	Q/P	cAg/cCg		1		-1	PHF21B	HGNC	HGNC:25161	protein_coding	YES	CCDS14061.1	ENSP00000324403	Q96EK2	A0A0S2Z6R3	UPI0000072111	NM_138415.4	deleterious_low_confidence(0)		3/13		hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	2	44920399	44920399	T	G	1	0	0	0	0	1	0	0	0	11920	1594	55	5		5	PHF21B	22	44920399	Missense_Mutation	SNP	T	11LU016_TP	1029292	44920399	5898069	586	642											
GTSE1	0	.	GRCh38	chr22	46297445	46297445	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccttcagcctgccgggcAggggacgtgaacatggatga	9	6	16	10	2	1	2	1	2	0	0	1	5	1	4	3	4	4	1	3	4	1	1	novel		11LU016_TP	11LU016_NB	A	A																c.45A>C	p.=	p.A15A	ENST00000454366	2/12	124	110	14	192	192	0	strelka-varscan-mutect	GTSE1,synonymous_variant,p.=,ENST00000454366,NM_016426.6;TTC38,downstream_gene_variant,,ENST00000381031,NM_017931.2;GTSE1-AS1,upstream_gene_variant,,ENST00000623117,;GTSE1-AS1,upstream_gene_variant,,ENST00000617229,;TTC38,downstream_gene_variant,,ENST00000451998,;	C	ENST00000454366	Transcript	synonymous_variant	257/3112	45/2220	15/739	A	gcA/gcC		1		1	GTSE1	HGNC	HGNC:13698	protein_coding	YES	CCDS14074.2	ENSP00000415430	Q9NYZ3		UPI000021D19B	NM_016426.6			2/12		hmmpanther:PTHR21584,hmmpanther:PTHR21584:SF10																	LOW	1	SNV	1			1										PASS		rs1037278148	.												C	2	2	2	46297445	46297445	A	C	1	0	0	0	0	0	0	0	1	6766	175	7	5		5	GTSE1	22	46297445	Silent	SNP	A	11LU016_TP	1377046	46297445	4521023	587	643											
MXRA5	0	.	GRCh38	chrX	3320296	3320296	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taagttagttgagggtgatcCcgtggtctgcggagtgtgca	7	12	16	6	2	1	2	0	2	1	0	2	3	2	3	1	3	2	3	1	3	2	3			11LU016_TP	11LU016_NB	C	C																c.5389G>T	p.Gly1797Ter	p.G1797*	ENST00000217939	5/7	121	103	18	82	82	0	strelka-varscan-mutect	MXRA5,stop_gained,p.Gly1797Ter,ENST00000217939,NM_015419.3;	A	ENST00000217939	Transcript	stop_gained	5544/9793	5389/8487	1797/2828	G/*	Gga/Tga	COSM3973609,COSM3973610	1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3			5/7		hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489											1,1						HIGH	1	SNV	5		1,1	1										PASS		.	.												A	4	1	2	3320296	3320296	C	A	1	0	0	0	0	0	1	0	0	10002	632	22	2		2	MXRA5	23	3320296	Nonsense_Mutation	SNP	C	11LU016_TP		3320296	152720599	588	644											
GPR143	0	.	GRCh38	chrX	9765638	9765638	+	Frame_Shift_Del	DEL	G	G	-																															gaggccggcggggacgtcgcGggggacccggggcccgcggg																								novel		11LU016_TP	11LU016_NB	G	G																c.180delC	p.Ala61ArgfsTer26	p.A61Rfs*26	ENST00000467482	1/9	15	6	9	15	15	0	sindel-varindel	GPR143,frameshift_variant,p.Ala61ArgfsTer26,ENST00000467482,NM_000273.2;GPR143,intron_variant,,ENST00000447366,;GPR143,intron_variant,,ENST00000431126,;	-	ENST00000467482	Transcript	frameshift_variant	327/1762	180/1215	60/404	P/X	ccC/cc		1		-1	GPR143	HGNC	HGNC:20145	protein_coding	YES	CCDS14134.2	ENSP00000417161	P51810		UPI0000130B4E	NM_000273.2			1/9		Low_complexity_(Seg):seg,hmmpanther:PTHR15177,hmmpanther:PTHR15177:SF2,Pfam_domain:PF02101																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	2	9765638	9765638	G	-	1	0	1	0	1	0	0	0	0	6537	1103	39	0		0	GPR143	23	9765638	Frame_Shift_Del	DEL	G	11LU016_TP	6445342	9765638	146275257	589	645	16	2									
GPR143	0	.	GRCh38	chrX	9765639	9765639	+	Missense_Mutation	SNP	G	G	A																															aggccggcggggacgtcgcgGgggacccggggcccgcgggc																								novel		11LU016_TP	11LU016_NB	G	G																c.179C>T	p.Pro60Leu	p.P60L	ENST00000467482	1/9	18	9	9	16	16	0	strelka-mutect	GPR143,missense_variant,p.Pro60Leu,ENST00000467482,NM_000273.2;GPR143,intron_variant,,ENST00000447366,;GPR143,intron_variant,,ENST00000431126,;	A	ENST00000467482	Transcript	missense_variant	326/1762	179/1215	60/404	P/L	cCc/cTc		1		-1	GPR143	HGNC	HGNC:20145	protein_coding	YES	CCDS14134.2	ENSP00000417161	P51810		UPI0000130B4E	NM_000273.2	tolerated(0.09)		1/9		Low_complexity_(Seg):seg,hmmpanther:PTHR15177,hmmpanther:PTHR15177:SF2,Pfam_domain:PF02101																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	9765639	9765639	G	A	1	0	0	0	0	1	0	0	0	6537	1232	43	3		3	GPR143	23	9765639	Missense_Mutation	SNP	G	11LU016_TP	1	9765639	146275256	590	646	16	2									
VEGFD	0	.	GRCh38	chrX	15346161	15346161	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcggctgtggggccccTgggcagcccttttctccttt	1	15	11	14	1	2	0	0	0	2	0	4	0	2	0	4	4	1	2	4	4	0	4	novel		11LU016_TP	11LU016_NB	T	T																c.1037A>T	p.Gln346Leu	p.Q346L	ENST00000297904	7/7	109	103	6	94	94	0	strelka-mutect	VEGFD,missense_variant,p.Gln346Leu,ENST00000297904,NM_004469.4;VEGFD,non_coding_transcript_exon_variant,,ENST00000488351,;	A	ENST00000297904	Transcript	missense_variant	1467/2037	1037/1065	346/354	Q/L	cAg/cTg		1		-1	VEGFD	HGNC	HGNC:3708	protein_coding	YES	CCDS14166.1	ENSP00000297904	O43915		UPI00000012B2	NM_004469.4	tolerated_low_confidence(0.05)		7/7		hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	15346161	15346161	T	A	1	0	0	0	0	1	0	0	0	17698	1580	55	4		4	VEGFD	23	15346161	Missense_Mutation	SNP	T	11LU016_TP	5580522	15346161	140694734	591	647											
MBTPS2	0	.	GRCh38	chrX	21882614	21882614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagtgtacttttggctGccaatgtgaccctgggactc	6	12	13	10	0	0	1	0	1	0	0	1	2	0	2	2	3	2	3	2	3	2	3	novel		11LU016_TP	11LU016_NB	G	G																c.1519G>T	p.Ala507Ser	p.A507S	ENST00000379484	11/11	225	124	101	165	165	0	strelka-varscan-mutect	MBTPS2,missense_variant,p.Ala507Ser,ENST00000379484,NM_015884.3;	T	ENST00000379484	Transcript	missense_variant	1618/4428	1519/1560	507/519	A/S	Gcc/Tcc		1		1	MBTPS2	HGNC	HGNC:15455	protein_coding	YES	CCDS14201.1	ENSP00000368798	O43462		UPI000012F5A0	NM_015884.3	tolerated(0.13)		11/11		Transmembrane_helices:TMhelix,hmmpanther:PTHR13325:SF3,hmmpanther:PTHR13325																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	21882614	21882614	G	T	1	0	0	0	0	1	0	0	0	9295	1319	46	2		2	MBTPS2	23	21882614	Missense_Mutation	SNP	G	11LU016_TP	6536453	21882614	134158281	592	648											
MAGEB5	0	.	GRCh38	chrX	26218093	26218093	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagtggccaagactgtctCagggcgaagttcagcagctt	9	9	13	10	1	2	1	2	0	1	1	3	2	2	1	1	2	3	4	1	2	2	2	novel		11LU016_TP	11LU016_NB	C	C																c.792C>G	p.=	p.L264L	ENST00000602297	2/2	64	41	23	52	52	0	strelka-varscan-mutect	MAGEB5,synonymous_variant,p.=,ENST00000602297,NM_001271752.1;	G	ENST00000602297	Transcript	synonymous_variant	1039/1216	792/828	264/275	L	ctC/ctG		1		1	MAGEB5	HGNC	HGNC:23795	protein_coding	YES	CCDS65233.1	ENSP00000473493	Q9BZ81		UPI0000237754	NM_001271752.1			2/2		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF35																	LOW	1	SNV	3			1										PASS		.	.												G	2	3	2	26218093	26218093	C	G	1	0	0	0	0	0	0	0	1	9095	813	29	4		4	MAGEB5	23	26218093	Silent	SNP	C	11LU016_TP	4335479	26218093	129822802	593	649											
MAGEB2	0	.	GRCh38	chrX	30218749	30218749	+	Missense_Mutation	SNP	G	G	T																															cttcaagctctcctgctgctGgcattccccaggagcctcag																								novel		11LU016_TP	11LU016_NB	G	G																c.169G>T	p.Gly57Cys	p.G57C	ENST00000378988	2/2	118	71	47	96	96	0	strelka-varscan-mutect	MAGEB2,missense_variant,p.Gly57Cys,ENST00000378988,NM_002364.4;	T	ENST00000378988	Transcript	missense_variant	270/1610	169/960	57/319	G/C	Ggc/Tgc		1		1	MAGEB2	HGNC	HGNC:6809	protein_coding	YES	CCDS14219.1	ENSP00000368273	O15479		UPI000013C683	NM_002364.4	tolerated(0.07)		2/2		Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF22,Low_complexity_(Seg):seg,SMART_domains:SM01392																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	30218749	30218749	G	T	1	0	0	0	0	1	0	0	0	9092	1348	47	2		2	MAGEB2	23	30218749	Missense_Mutation	SNP	G	11LU016_TP	4000656	30218749	125822146	594	650	17	2									
MAGEB2	0	.	GRCh38	chrX	30218750	30218750	+	Missense_Mutation	SNP	G	G	T																															ttcaagctctcctgctgctgGcattccccaggagcctcaga																								novel		11LU016_TP	11LU016_NB	G	G																c.170G>T	p.Gly57Val	p.G57V	ENST00000378988	2/2	115	69	46	97	97	0	strelka-varscan-mutect	MAGEB2,missense_variant,p.Gly57Val,ENST00000378988,NM_002364.4;	T	ENST00000378988	Transcript	missense_variant	271/1610	170/960	57/319	G/V	gGc/gTc		1		1	MAGEB2	HGNC	HGNC:6809	protein_coding	YES	CCDS14219.1	ENSP00000368273	O15479		UPI000013C683	NM_002364.4	deleterious(0.01)		2/2		Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF22,Low_complexity_(Seg):seg,SMART_domains:SM01392																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	30218750	30218750	G	T	1	0	0	0	0	1	0	0	0	9092	1203	42	2		2	MAGEB2	23	30218750	Missense_Mutation	SNP	G	11LU016_TP	1	30218750	125822145	595	651	17	2									
MAGEB2	0	.	GRCh38	chrX	30218928	30218928	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctctaaccaggaagtcaggGtcgttggtgcagttcctgtt	7	12	12	10	1	2	0	1	0	1	0	4	1	3	1	3	3	2	4	3	3	2	4	novel		11LU016_TP	11LU016_NB	G	G																c.348G>T	p.=	p.G116G	ENST00000378988	2/2	166	111	55	128	128	0	strelka-varscan-mutect	MAGEB2,synonymous_variant,p.=,ENST00000378988,NM_002364.4;	T	ENST00000378988	Transcript	synonymous_variant	449/1610	348/960	116/319	G	ggG/ggT		1		1	MAGEB2	HGNC	HGNC:6809	protein_coding	YES	CCDS14219.1	ENSP00000368273	O15479		UPI000013C683	NM_002364.4			2/2		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF22																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	30218928	30218928	G	T	1	0	0	0	0	0	0	0	1	9092	1248	44	2		2	MAGEB2	23	30218928	Silent	SNP	G	11LU016_TP	178	30218928	125821967	596	652											
FAM47C	0	.	GRCh38	chrX	37009148	37009148	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagactggagtgtcccatctCcgcccagagcctcccaagac	9	6	10	16	1	1	3	0	0	1	3	4	5	3	4	5	1	1	0	5	1	1	0	novel		11LU016_TP	11LU016_NB	C	C																c.738C>G	p.=	p.L246L	ENST00000358047	1/1	272	159	113	229	229	0	strelka-varscan-mutect	FAM47C,synonymous_variant,p.=,ENST00000358047,NM_001013736.2;	G	ENST00000358047	Transcript	synonymous_variant	752/3270	738/3108	246/1035	L	ctC/ctG		1		1	FAM47C	HGNC	HGNC:25301	protein_coding	YES	CCDS35227.1	ENSP00000367913	Q5HY64		UPI000041ABF8	NM_001013736.2			1/1		Pfam_domain:PF14642,Pfam_domain:PF14642																	LOW	1	SNV				1										PASS		.	.												G	2	3	2	37009148	37009148	C	G	1	0	0	0	0	0	0	0	1	5449	842	30	4		4	FAM47C	23	37009148	Silent	SNP	C	11LU016_TP	6790220	37009148	119031747	597	653											
SYTL5	0	.	GRCh38	chrX	38120413	38120413	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagagctgacagttgtttTacgttacattcccccagaag	11	11	10	9	1	0	3	0	1	0	2	1	4	1	3	2	1	3	4	2	1	3	5	novel		11LU016_TP	11LU016_NB	T	T																c.1718T>G	p.Leu573Ter	p.L573*	ENST00000456733	14/17	126	103	23	104	104	0	strelka-varscan-mutect	SYTL5,stop_gained,p.Leu551Ter,ENST00000297875,NM_138780.2,NM_001163335.1;SYTL5,stop_gained,p.Leu573Ter,ENST00000456733,NM_001163334.1;RP5-972B16.2,intron_variant,,ENST00000465127,;	G	ENST00000456733	Transcript	stop_gained	2074/4704	1718/2259	573/752	L/*	tTa/tGa		1		1	SYTL5	HGNC	HGNC:15589	protein_coding	YES	CCDS55399.1	ENSP00000395220	Q8TDW5		UPI0000F0599F	NM_001163334.1			14/17		Gene3D:2.60.40.150,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF13,Superfamily_domains:SSF49562																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	2	38120413	38120413	T	G	1	0	0	0	0	0	1	0	0	15880	1764	61	5		5	SYTL5	23	38120413	Nonsense_Mutation	SNP	T	11LU016_TP	1111265	38120413	117920482	598	654											
SLC9A7	0	.	GRCh38	chrX	46648768	46648768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggagagcgggtagatGtgcgcggctctgcccaggaa	11	5	17	8	3	1	3	0	0	1	3	1	5	1	4	1	4	3	2	1	4	4	1	novel		11LU016_TP	11LU016_NB	G	G																c.1380C>A	p.His460Gln	p.H460Q	ENST00000616978	11/17	132	86	46	140	140	0	strelka-varscan-mutect	SLC9A7,missense_variant,p.His460Gln,ENST00000616978,NM_001257291.1;SLC9A7,missense_variant,p.His459Gln,ENST00000328306,NM_032591.2;SLC9A7,intron_variant,,ENST00000489574,;PGAM1P7,upstream_gene_variant,,ENST00000413837,;	T	ENST00000616978	Transcript	missense_variant	1523/10024	1380/2181	460/726	H/Q	caC/caA		1		-1	SLC9A7	HGNC	HGNC:17123	protein_coding	YES	CCDS75967.1	ENSP00000480916		A0A087WXD1	UPI000258D161	NM_001257291.1	deleterious(0)		11/17		Pfam_domain:PF00999,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF62,TIGRFAM_domain:TIGR00840,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	46648768	46648768	G	T	1	0	0	0	0	1	0	0	0	15001	1368	48	2		2	SLC9A7	23	46648768	Missense_Mutation	SNP	G	11LU016_TP	8528355	46648768	109392127	599	655											
AR	0	.	GRCh38	chrX	67680735	67680735	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaggatttttcagaatgaAcaaattaaaagaatcataat	21	11	5	4	0	2	3	2	1	0	2	2	4	2	4	0	1	2	0	0	1	8	4	novel		11LU016_TP	11LU016_NB	A	A																c.1784A>G	p.Asn595Ser	p.N595S	ENST00000612010	3/6	84	76	8	65	65	0	strelka-varscan-mutect	AR,missense_variant,p.Asn595Ser,ENST00000612010,;AR,intron_variant,,ENST00000612452,;AR,intron_variant,,ENST00000396044,;AR,intron_variant,,ENST00000374690,NM_000044.3;AR,intron_variant,,ENST00000504326,;AR,intron_variant,,ENST00000613054,;AR,intron_variant,,ENST00000396043,NM_001011645.2;AR,intron_variant,,ENST00000513847,;AR,missense_variant,p.Asn595Ser,ENST00000514029,;	G	ENST00000612010	Transcript	missense_variant	2111/3896	1784/1929	595/642	N/S	aAc/aGc		1		1	AR	HGNC	HGNC:644	protein_coding			ENSP00000482407		A0A087WZ66	UPI0004E4CA27		deleterious_low_confidence(0.04)		3/6		SMART_domains:SM00399																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	2	67680735	67680735	A	G	1	0	0	0	0	1	0	0	0	958	43	2	5		5	AR	23	67680735	Missense_Mutation	SNP	A	11LU016_TP	21031967	67680735	88360160	600	656											
CHIC1	0	.	GRCh38	chrX	73584504	73584504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtgaaatggctgctgTgtggttgtctctgctgctgt	5	16	13	7	0	2	1	1	1	1	0	3	1	2	1	0	2	3	5	0	2	2	1	novel		11LU016_TP	11LU016_NB	T	T																c.439T>C	p.Cys147Arg	p.C147R	ENST00000373502	3/6	139	131	8	75	75	0	strelka-varscan-mutect	CHIC1,missense_variant,p.Cys147Arg,ENST00000373504,NM_001300884.1;CHIC1,missense_variant,p.Cys147Arg,ENST00000373502,NM_001039840.2;CHIC1,missense_variant,p.Cys140Arg,ENST00000498407,;CHIC1,3_prime_UTR_variant,,ENST00000498318,;	C	ENST00000373502	Transcript	missense_variant	516/4158	439/675	147/224	C/R	Tgt/Cgt		1		1	CHIC1	HGNC	HGNC:1934	protein_coding	YES	CCDS35335.2	ENSP00000362601	Q5VXU3		UPI0000160F74	NM_001039840.2	deleterious(0)		3/6		Pfam_domain:PF10256,hmmpanther:PTHR13005,hmmpanther:PTHR13005:SF2,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	2	73584504	73584504	T	C	1	0	0	0	0	1	0	0	0	3102	1696	59	5		5	CHIC1	23	73584504	Missense_Mutation	SNP	T	11LU016_TP	5903769	73584504	82456391	601	657											
UPRT	0	.	GRCh38	chrX	75274348	75274348	+	Frame_Shift_Del	DEL	G	G	-																															gtcccgagcagctgcgacctGgcgatctgatcctggaccac																								novel		11LU016_TP	11LU016_NB	G	G																c.95delG	p.Gly32AlafsTer3	p.G32Afs*3	ENST00000373383	1/7	87	71	16	73	73	0	sindel-varindel-pindel	UPRT,frameshift_variant,p.Gly32AlafsTer3,ENST00000373379,NM_001307944.1;UPRT,frameshift_variant,p.Gly32AlafsTer3,ENST00000373383,NM_145052.3;UPRT,upstream_gene_variant,,ENST00000530743,;UPRT,non_coding_transcript_exon_variant,,ENST00000531704,;UPRT,frameshift_variant,p.Gly32AlafsTer3,ENST00000462237,;UPRT,frameshift_variant,p.Gly32AlafsTer3,ENST00000373373,;	-	ENST00000373383	Transcript	frameshift_variant	261/2186	94/930	32/309	G/X	Ggc/gc		1		1	UPRT	HGNC	HGNC:28334	protein_coding	YES	CCDS14429.1	ENSP00000362481	Q96BW1	A8KAF9	UPI000004B62E	NM_145052.3			1/7																			HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	2	75274348	75274348	G	-	1	0	1	0	1	0	0	0	0	17540	1348	47	0		0	UPRT	23	75274348	Frame_Shift_Del	DEL	G	11LU016_TP	1689844	75274348	80766547	602	658											
PCDH11X	0	.	GRCh38	chrX	91877916	91877916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgtcacagtctttgtaaGcattattgatcagaatgaca	14	13	7	7	0	3	3	2	2	1	1	3	3	3	3	0	0	1	2	0	0	4	4			11LU016_TP	11LU016_NB	G	G																c.1676G>T	p.Ser559Ile	p.S559I	ENST00000373094	2/7	296	277	19	218	218	0	varscan-mutect	PCDH11X,missense_variant,p.Ser559Ile,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Ser559Ile,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Ser559Ile,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Ser559Ile,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Ser559Ile,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Ser559Ile,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Ser559Ile,ENST00000395337,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000298274,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000361724,;	T	ENST00000373094	Transcript	missense_variant	2521/9179	1676/4044	559/1347	S/I	aGc/aTc	COSM125152,COSM125153	1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4	tolerated(0.09)		2/7		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF25,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	2	91877916	91877916	G	T	1	0	0	0	0	1	0	0	0	11595	971	34	2		2	PCDH11X	23	91877916	Missense_Mutation	SNP	G	11LU016_TP	16603568	91877916	64162979	603	659											
TRPC5	0	.	GRCh38	chrX	111847421	111847421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catttcccattcctcccttgGacgagaaccattatactgaa	11	12	5	13	1	0	2	0	1	0	1	3	4	3	3	4	1	2	0	4	1	4	5	novel		11LU016_TP	11LU016_NB	G	G																c.1393C>A	p.Pro465Thr	p.P465T	ENST00000262839	6/11	69	47	22	56	56	0	strelka-varscan-mutect	TRPC5,missense_variant,p.Pro465Thr,ENST00000262839,NM_012471.2;	T	ENST00000262839	Transcript	missense_variant	2312/5839	1393/2922	465/973	P/T	Cca/Aca		1		-1	TRPC5	HGNC	HGNC:12337	protein_coding	YES	CCDS14561.1	ENSP00000262839	Q9UL62		UPI00001374B6	NM_012471.2	deleterious(0.01)		6/11		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF24,Pfam_domain:PF00520,TIGRFAM_domain:TIGR00870																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	111847421	111847421	G	T	1	0	0	0	0	1	0	0	0	17087	1174	41	2		2	TRPC5	23	111847421	Missense_Mutation	SNP	G	11LU016_TP	19969505	111847421	44193474	604	660											
TRPC5	0	.	GRCh38	chrX	111912741	111912741	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttcgtagttgttggtgtgGgcagccagcatgatgggagt	7	13	16	5	1	0	1	0	1	0	0	1	2	0	2	1	3	2	5	1	3	1	4			11LU016_TP	11LU016_NB	G	G																c.450C>T	p.=	p.A150A	ENST00000262839	3/11	113	104	9	57	57	0	strelka-mutect	TRPC5,synonymous_variant,p.=,ENST00000262839,NM_012471.2;	A	ENST00000262839	Transcript	synonymous_variant	1369/5839	450/2922	150/973	A	gcC/gcT	COSM5513851	1		-1	TRPC5	HGNC	HGNC:12337	protein_coding	YES	CCDS14561.1	ENSP00000262839	Q9UL62		UPI00001374B6	NM_012471.2			3/11		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF24,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,SMART_domains:SM00248,Superfamily_domains:SSF48403											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	2	111912741	111912741	G	A	1	0	0	0	0	0	0	0	1	17087	1219	43	3		3	TRPC5	23	111912741	Silent	SNP	G	11LU016_TP	65320	111912741	44128154	605	661											
HTR2C	0	.	GRCh38	chrX	114731420	114731420	+	Frame_Shift_Del	DEL	C	C	-																															ttcccagacggggtacaaaaCtggccagcactttcaatcgt																								novel		11LU016_TP	11LU016_NB	C	C																c.162delC	p.Trp55GlyfsTer9	p.W55Gfs*9	ENST00000276198	4/6	148	75	73	143	143	0	sindel-varindel-pindel	HTR2C,frameshift_variant,p.Trp55GlyfsTer9,ENST00000276198,NM_000868.3;HTR2C,frameshift_variant,p.Trp55GlyfsTer9,ENST00000371950,NM_001256761.2;HTR2C,frameshift_variant,p.Trp55GlyfsTer9,ENST00000371951,NM_001256760.2;	-	ENST00000276198	Transcript	frameshift_variant	890/4751	162/1377	54/458	N/X	aaC/aa		1		1	HTR2C	HGNC	HGNC:5295	protein_coding	YES	CCDS14564.1	ENSP00000276198	P28335		UPI000014653A	NM_000868.3			4/6		Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,hmmpanther:PTHR24247:SF32,hmmpanther:PTHR24247																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	2	114731420	114731420	C	-	1	0	1	0	1	0	0	0	0	7339	564	20	0		0	HTR2C	23	114731420	Frame_Shift_Del	DEL	C	11LU016_TP	2818679	114731420	41309475	606	662											
NKAP	0	.	GRCh38	chrX	119930139	119930139	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagccatagctgcacctTcaccaggtaacagagcatgg	12	8	9	12	0	2	1	2	0	0	1	2	1	2	1	3	2	5	4	3	2	2	4	novel		11LU016_TP	11LU016_NB	T	T																c.950A>T	p.Glu317Val	p.E317V	ENST00000371410	8/9	74	65	9	68	68	0	strelka-varscan-mutect	NKAP,missense_variant,p.Glu317Val,ENST00000371410,NM_024528.3;NKAP,non_coding_transcript_exon_variant,,ENST00000477789,;NKAP,non_coding_transcript_exon_variant,,ENST00000482407,;	A	ENST00000371410	Transcript	missense_variant	1117/5963	950/1248	317/415	E/V	gAa/gTa		1		-1	NKAP	HGNC	HGNC:29873	protein_coding	YES	CCDS14592.1	ENSP00000360464	Q8N5F7		UPI000004A07B	NM_024528.3	deleterious(0)		8/9		Pfam_domain:PF06047,hmmpanther:PTHR13087,hmmpanther:PTHR13087:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	119930139	119930139	T	A	1	0	0	0	0	1	0	0	0	10474	1783	62	4		4	NKAP	23	119930139	Missense_Mutation	SNP	T	11LU016_TP	5198719	119930139	36110756	607	663											
SH2D1A	0	.	GRCh38	chrX	124346667	124346667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcagtggctgtgtatcatGgcaaaatcagcagggaaacc	13	7	12	9	1	2	0	2	0	0	0	2	1	2	1	1	3	2	5	1	3	4	1	novel		11LU016_TP	11LU016_NB	G	G																c.25G>T	p.Gly9Cys	p.G9C	ENST00000371139	1/4	345	168	177	241	240	1	strelka-varscan-mutect	SH2D1A,missense_variant,p.Gly9Cys,ENST00000371139,NM_002351.4;SH2D1A,missense_variant,p.Gly9Cys,ENST00000360027,NM_001114937.2;SH2D1A,missense_variant,p.Gly9Cys,ENST00000477673,;SH2D1A,non_coding_transcript_exon_variant,,ENST00000491950,;SH2D1A,non_coding_transcript_exon_variant,,ENST00000494073,;SH2D1A,intron_variant,,ENST00000635645,;STAG2,intron_variant,,ENST00000469481,;	T	ENST00000371139	Transcript	missense_variant	324/2450	25/387	9/128	G/C	Ggc/Tgc		1		1	SH2D1A	HGNC	HGNC:10820	protein_coding	YES	CCDS14608.1	ENSP00000360181	O60880		UPI0000000D0B	NM_002351.4	deleterious(0)		1/4		PROSITE_profiles:PS50001,hmmpanther:PTHR11200,Pfam_domain:PF00017,Gene3D:3.30.505.10,PIRSF_domain:PIRSF037828,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	124346667	124346667	G	T	1	0	0	0	0	1	0	0	0	14488	1348	47	2		2	SH2D1A	23	124346667	Missense_Mutation	SNP	G	11LU016_TP	4416528	124346667	31694228	608	664											
TEX13C	0	.	GRCh38	chrX	125322229	125322229	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatgcccaaggagatggtcCccctgggggacagcaacagc	10	5	14	12	0	0	2	0	1	0	1	1	4	1	3	3	4	4	1	3	4	2	0	novel		11LU016_TP	11LU016_NB	C	C																c.2110C>G	p.Pro704Ala	p.P704A	ENST00000632600	1/1	302	150	152	261	261	0	strelka-varscan-mutect	TEX13C,missense_variant,p.Pro704Ala,ENST00000632600,NM_001195272.1;RP13-147D17.1,downstream_gene_variant,,ENST00000394467,;	G	ENST00000632600	Transcript	missense_variant	2110/5095	2110/2982	704/993	P/A	Ccc/Gcc		1		1	TEX13C	HGNC	HGNC:52277	protein_coding	YES		ENSP00000488022	A0A0J9YWL9		UPI000016014C	NM_001195272.1	deleterious(0.04)		1/1																			MODERATE	1	SNV				1										PASS		.	.												G	3	3	2	125322229	125322229	C	G	1	0	0	0	0	1	0	0	0	16199	623	22	4		4	TEX13C	23	125322229	Missense_Mutation	SNP	C	11LU016_TP	975562	125322229	30718666	609	665											
SMARCA1	0	.	GRCh38	chrX	129448317	129448317	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacctaaaagttaggaaaAtgctgaaaattttaccattg	16	13	6	6	0	1	1	0	1	1	0	1	2	1	2	2	1	3	2	2	1	9	6	novel		11LU016_TP	11LU016_NB	A	A																c.3157T>C	p.Phe1053Leu	p.F1053L	ENST00000371122	24/25	82	60	22	53	53	0	strelka-varscan-mutect	SMARCA1,missense_variant,p.Phe1053Leu,ENST00000371122,NM_003069.4;SMARCA1,intron_variant,,ENST00000371123,NM_001282875.1;SMARCA1,intron_variant,,ENST00000371121,NM_001282874.1;SMARCA1,non_coding_transcript_exon_variant,,ENST00000617310,;	G	ENST00000371122	Transcript	missense_variant	3287/4099	3157/3165	1053/1054	F/L	Ttt/Ctt		1		-1	SMARCA1	HGNC	HGNC:11097	protein_coding		CCDS14612.1	ENSP00000360163	P28370		UPI0000161FA6	NM_003069.4	tolerated_low_confidence(0.68)		24/25																			MODERATE		SNV	1			1										PASS		.	.												G	3	3	2	129448317	129448317	A	G	1	0	0	0	0	1	0	0	0	15061	101	4	5		5	SMARCA1	23	129448317	Missense_Mutation	SNP	A	11LU016_TP	4126088	129448317	26592578	610	666											
MCF2	0	.	GRCh38	chrX	139588359	139588359	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaatgcaggcttgaatttaCctgtcaaaagttcctgctgc	11	12	9	9	0	1	2	1	1	0	1	2	2	2	2	2	1	4	4	2	1	5	4	novel		11LU016_TP	11LU016_NB	C	C																c.2677+1G>T		p.X893_splice	ENST00000519895		80	33	47	43	43	0	strelka-varscan-mutect	MCF2,splice_donor_variant,,ENST00000520602,;MCF2,splice_donor_variant,,ENST00000414978,NM_001099855.1;MCF2,splice_donor_variant,,ENST00000370576,NM_005369.4;MCF2,splice_donor_variant,,ENST00000536274,NM_001171877.1;MCF2,splice_donor_variant,,ENST00000519895,NM_001171876.1;MCF2,splice_donor_variant,,ENST00000338585,NM_001171879.1;MCF2,splice_donor_variant,,ENST00000370573,NM_001171878.1;MCF2,splice_donor_variant,,ENST00000437564,;MCF2,splice_donor_variant,,ENST00000446225,;	A	ENST00000519895	Transcript	splice_donor_variant	-/3346	2677/3006	893/1001				1		-1	MCF2	HGNC	HGNC:6940	protein_coding	YES	CCDS55517.1	ENSP00000430276	P10911		UPI0001C33995	NM_001171876.1				25/28																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	2	139588359	139588359	C	A	1	0	0	0	0	0	0	1	0	9309	521	18	2		2	MCF2	23	139588359	Splice_Site	SNP	C	11LU016_TP	10140042	139588359	16452536	611	667											
PDZD4	0	.	GRCh38	chrX	153804577	153804577	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccaggtggcacttgatCtccaggagctcacggtagcg	7	10	12	12	2	3	1	1	1	2	0	5	2	3	2	2	4	2	3	2	4	1	3	novel		11LU016_TP	11LU016_NB	C	C																c.1104G>T	p.Glu368Asp	p.E368D	ENST00000393758	8/8	142	134	8	108	108	0	strelka-varscan-mutect	PDZD4,missense_variant,p.Glu368Asp,ENST00000393758,NM_001303515.1,NM_001303513.1,NM_001303512.1;PDZD4,missense_variant,p.Glu362Asp,ENST00000164640,NM_001303516.1,NM_032512.3;PDZD4,missense_variant,p.Glu253Asp,ENST00000544474,NM_001303514.1;PDZD4,downstream_gene_variant,,ENST00000475140,;PDZD4,downstream_gene_variant,,ENST00000483693,;PDZD4,downstream_gene_variant,,ENST00000484792,;PDZD4,downstream_gene_variant,,ENST00000468491,;PDZD4,downstream_gene_variant,,ENST00000480418,;PDZD4,downstream_gene_variant,,ENST00000480650,;	A	ENST00000393758	Transcript	missense_variant	1354/3763	1104/2328	368/775	E/D	gaG/gaT		1		-1	PDZD4	HGNC	HGNC:21167	protein_coding	YES	CCDS78518.1	ENSP00000377355		Q17RL8	UPI0000211CB2	NM_001303515.1,NM_001303513.1,NM_001303512.1	deleterious(0.04)		8/8		hmmpanther:PTHR15545,hmmpanther:PTHR15545:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	153804577	153804577	C	A	1	0	0	0	0	1	0	0	0	11791	912	32	2		2	PDZD4	23	153804577	Missense_Mutation	SNP	C	11LU016_TP	14216218	153804577	2236318	612	668											
RPL10	0	.	GRCh38	chrX	154399883	154399883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccatatccgggtgcggCtccaccccttccacgtcatc	5	10	8	18	3	1	0	1	0	0	0	6	0	5	0	6	2	1	2	6	2	1	3			11LU016_TP	11LU016_NB	C	C																c.271C>A	p.Leu91Ile	p.L91I	ENST00000424325	5/7	301	268	33	242	242	0	varscan-mutect	RPL10,missense_variant,p.Leu91Ile,ENST00000424325,NM_001303625.1,NM_006013.4;RPL10,missense_variant,p.Leu91Ile,ENST00000344746,NM_001303624.1,NM_001303626.1;RPL10,missense_variant,p.Leu55Ile,ENST00000618723,NM_001256580.2;RPL10,missense_variant,p.Leu91Ile,ENST00000369817,;RPL10,missense_variant,p.Leu40Ile,ENST00000406022,;RPL10,missense_variant,p.Leu74Ile,ENST00000451365,;RPL10,missense_variant,p.Leu91Ile,ENST00000436473,;RPL10,missense_variant,p.Leu1Ile,ENST00000449494,;RPL10,missense_variant,p.Leu91Ile,ENST00000458500,NM_001256577.2;RPL10,missense_variant,p.Leu1Ile,ENST00000427682,;RPL10,missense_variant,p.Leu1Ile,ENST00000428169,;DNASE1L1,downstream_gene_variant,,ENST00000369809,NM_001009932.2;DNASE1L1,downstream_gene_variant,,ENST00000369808,NM_006730.3;DNASE1L1,downstream_gene_variant,,ENST00000393638,NM_001009934.2;DNASE1L1,downstream_gene_variant,,ENST00000014935,;DNASE1L1,downstream_gene_variant,,ENST00000309585,NM_001009933.2;DNASE1L1,downstream_gene_variant,,ENST00000369807,NM_001303620.1;DNASE1L1,downstream_gene_variant,,ENST00000424626,;DNASE1L1,downstream_gene_variant,,ENST00000451865,;DNASE1L1,downstream_gene_variant,,ENST00000447892,;DNASE1L1,downstream_gene_variant,,ENST00000412184,;SNORA70,upstream_gene_variant,,ENST00000384436,;XX-FW83563B9.5,upstream_gene_variant,,ENST00000624054,;RPL10,downstream_gene_variant,,ENST00000479366,;RPL10,non_coding_transcript_exon_variant,,ENST00000482732,;RPL10,non_coding_transcript_exon_variant,,ENST00000492572,;RPL10,non_coding_transcript_exon_variant,,ENST00000489200,;RPL10,non_coding_transcript_exon_variant,,ENST00000491035,;RPL10,non_coding_transcript_exon_variant,,ENST00000485196,;RPL10,non_coding_transcript_exon_variant,,ENST00000467168,;DNASE1L1,downstream_gene_variant,,ENST00000497242,;	A	ENST00000424325	Transcript	missense_variant	459/2318	271/645	91/214	L/I	Ctc/Atc	COSM1117995	1		1	RPL10	HGNC	HGNC:10298	protein_coding	YES	CCDS14746.1	ENSP00000413436	P27635	X5D2T3	UPI0000144CE2	NM_001303625.1,NM_006013.4	tolerated(0.15)		5/7		Gene3D:3.90.1170.10,Pfam_domain:PF00252,PIRSF_domain:PIRSF005590,hmmpanther:PTHR11726,Superfamily_domains:SSF54686,TIGRFAM_domain:TIGR00279											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	2	154399883	154399883	C	A	1	0	0	0	0	1	0	0	0	13806	797	28	2		2	RPL10	23	154399883	Missense_Mutation	SNP	C	11LU016_TP	595306	154399883	1641012	613	669											
USP9Y	0	.	GRCh38	chrY	12757278	12757278	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgataaagatggtgtGatggcacacaaagtgttgaa	16	9	13	3	0	0	5	0	3	0	2	0	6	0	5	0	2	0	2	0	2	5	2	novel		11LU016_TP	11LU016_NB	G	G																c.1509G>T	p.=	p.V503V	ENST00000338981	13/46	210	185	25	203	203	0	strelka-varscan-mutect	USP9Y,synonymous_variant,p.=,ENST00000338981,NM_004654.3;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,;	T	ENST00000338981	Transcript	synonymous_variant	2454/10036	1509/7668	503/2555	V	gtG/gtT		1		1	USP9Y	HGNC	HGNC:12633	protein_coding	YES	CCDS14781.1	ENSP00000342812	O00507		UPI00001AE67D	NM_004654.3			13/46		Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	2	12757278	12757278	G	T	1	0	0	0	0	0	0	0	1	17634	1277	45	2		2	USP9Y	24	12757278	Silent	SNP	G	11LU016_TP		12757278	44470137	614	670											
TMSB4Y	0	.	GRCh38	chrY	13704360	13704360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgacaaacctggtatggctGagatcgagaaattcgataag	14	9	11	7	2	0	3	0	2	0	2	2	6	0	3	1	2	1	2	1	2	4	3	novel		11LU016_TP	11LU016_NB	G	G																c.25G>A	p.Glu9Lys	p.E9K	ENST00000284856	1/2	119	107	12	129	129	0	strelka-varscan-mutect	TMSB4Y,missense_variant,p.Glu9Lys,ENST00000284856,NM_004202.2;	A	ENST00000284856	Transcript	missense_variant	794/1669	25/135	9/44	E/K	Gag/Aag		1		1	TMSB4Y	HGNC	HGNC:11882	protein_coding	YES	CCDS14786.1	ENSP00000284856	O14604		UPI0000001073	NM_004202.2	deleterious(0.04)		1/2		Gene3D:1hj0A00,PD005116,Pfam_domain:PF01290,PIRSF_domain:PIRSF001828,hmmpanther:PTHR12021,hmmpanther:PTHR12021:SF13,SMART_domains:SM00152																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	2	13704360	13704360	G	A	1	0	0	0	0	1	0	0	0	16733	1291	45	3		3	TMSB4Y	24	13704360	Missense_Mutation	SNP	G	11LU016_TP	947082	13704360	43523055	615	671											
RPS4Y2	0	.	GRCh38	chrY	20759897	20759897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgacaggtcctcacaaGctgagggaatgtcttcccct	9	9	9	14	1	2	1	1	1	1	0	5	3	4	2	4	2	1	1	4	2	2	1	novel		11LU016_TP	11LU016_NB	G	G																c.111G>T	p.Lys37Asn	p.K37N	ENST00000629237	3/7	115	72	43	168	168	0	strelka-varscan-mutect	RPS4Y2,missense_variant,p.Lys37Asn,ENST00000629237,NM_001039567.2;	T	ENST00000629237	Transcript	missense_variant	111/792	111/792	37/263	K/N	aaG/aaT		1		1	RPS4Y2	HGNC	HGNC:18501	protein_coding	YES	CCDS44028.1	ENSP00000486252	Q8TD47		UPI000016788E	NM_001039567.2	deleterious(0)		3/7		HAMAP:MF_00485,Pfam_domain:PF08071,PIRSF_domain:PIRSF002116,hmmpanther:PTHR11581,hmmpanther:PTHR11581:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	2	20759897	20759897	G	T	1	0	0	0	0	1	0	0	0	13902	962	34	2		2	RPS4Y2	24	20759897	Missense_Mutation	SNP	G	11LU016_TP	7055537	20759897	36467518	616	672											
PLCH2	0	.	GRCh38	chr1	2484610	2484610	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagcgcttcctgcaggtgGagcagaaggtgtgctgcccg	6	8	16	11	2	0	1	0	0	0	1	1	2	1	2	2	3	6	5	2	3	1	1	novel		11LU022_TP	11LU022_NB	G	G																c.808G>T	p.Glu270Ter	p.E270*	ENST00000378486	5/22	102	83	19	207	205	2	strelka-varscan-mutect	PLCH2,stop_gained,p.Glu243Ter,ENST00000449969,NM_001303012.1;PLCH2,stop_gained,p.Glu270Ter,ENST00000378486,NM_014638.3,NM_001303013.1;PLCH2,stop_gained,p.Glu270Ter,ENST00000419816,;PLCH2,stop_gained,p.Glu129Ter,ENST00000278878,;PLCH2,downstream_gene_variant,,ENST00000609981,;PLCH2,non_coding_transcript_exon_variant,,ENST00000343889,;	T	ENST00000378486	Transcript	stop_gained	1082/4837	808/4251	270/1416	E/*	Gag/Tag		1		1	PLCH2	HGNC	HGNC:29037	protein_coding	YES	CCDS59959.1	ENSP00000367747	O75038		UPI00005B72F8	NM_014638.3,NM_001303013.1			5/22		Gene3D:1.10.238.10,Pfam_domain:PF09279,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF21,Superfamily_domains:SSF47473																	HIGH	1	SNV	1			1										PASS		rs969425551	.												T	4	4	3	2484610	2484610	G	T	1	0	0	0	0	0	1	0	0	12132	1175	41	2		2	PLCH2	1	2484610	Nonsense_Mutation	SNP	G	11LU022_TP		2484610	246471812	1	673											
CASZ1	0	.	GRCh38	chr1	10665208	10665208	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcatcgctgcaccccTggggctgcaccatgtagaca	7	9	9	16	1	1	1	1	0	0	1	3	1	2	1	4	2	2	5	4	2	1	2	novel		11LU022_TP	11LU022_NB	T	T																c.380A>T	p.Gln127Leu	p.Q127L	ENST00000377022	5/21	26	21	5	51	51	0	strelka-varscan-mutect	CASZ1,missense_variant,p.Gln127Leu,ENST00000377022,NM_001079843.2;CASZ1,missense_variant,p.Gln127Leu,ENST00000344008,NM_017766.4;CASZ1,non_coding_transcript_exon_variant,,ENST00000478728,;CASZ1,non_coding_transcript_exon_variant,,ENST00000496432,;CASZ1,upstream_gene_variant,,ENST00000492173,;	A	ENST00000377022	Transcript	missense_variant	698/7936	380/5280	127/1759	Q/L	cAg/cTg		1		-1	CASZ1	HGNC	HGNC:26002	protein_coding	YES	CCDS41246.1	ENSP00000366221	Q86V15		UPI0000EBB7D6	NM_001079843.2	deleterious_low_confidence(0)		5/21		hmmpanther:PTHR12451,hmmpanther:PTHR12451:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	10665208	10665208	T	A	1	0	0	0	0	1	0	0	0	2384	1580	55	4		4	CASZ1	1	10665208	Missense_Mutation	SNP	T	11LU022_TP	8180598	10665208	238291214	2	674											
DISP3	0	.	GRCh38	chr1	11535632	11535632	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggagagaacctgcccccCcaccaggccgaggtgcgcac	8	3	13	17	2	0	1	0	0	0	1	0	4	0	2	6	3	3	2	6	3	1	0	novel		11LU022_TP	11LU022_NB	C	C																c.3804C>A	p.=	p.P1268P	ENST00000294484	20/21	54	50	4	83	83	0	varscan-mutect	DISP3,missense_variant,p.Pro155Thr,ENST00000304391,;DISP3,synonymous_variant,p.=,ENST00000294484,NM_020780.1;	A	ENST00000294484	Transcript	synonymous_variant	3942/5215	3804/4179	1268/1392	P	ccC/ccA		1		1	DISP3	HGNC	HGNC:29251	protein_coding	YES	CCDS41247.1	ENSP00000294484	Q9P2K9		UPI00001C1D7A	NM_020780.1			20/21		hmmpanther:PTHR10796:SF125,hmmpanther:PTHR10796,Gene3D:2j8sB01,Pfam_domain:PF03176,Superfamily_domains:SSF82866																	LOW	1	SNV	1			1										PASS		rs1039143602	.												A	2	1	3	11535632	11535632	C	A	1	0	0	0	0	0	0	0	1	4347	623	22	2		2	DISP3	1	11535632	Silent	SNP	C	11LU022_TP	870424	11535632	237420790	3	675											
PRAMEF2	0	.	GRCh38	chr1	12860087	12860087	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaaagctttattgttacCtgaaggagatgaagactctt	14	13	9	5	0	1	5	0	2	1	3	1	6	1	5	1	1	2	2	1	1	6	6	novel		11LU022_TP	11LU022_NB	C	C																c.682C>A	p.Leu228Met	p.L228M	ENST00000240189	3/4	144	128	16	216	214	2	strelka-varscan-mutect	PRAMEF2,missense_variant,p.Leu228Met,ENST00000240189,NM_023014.1;	A	ENST00000240189	Transcript	missense_variant	769/1642	682/1425	228/474	L/M	Ctg/Atg		1		1	PRAMEF2	HGNC	HGNC:28841	protein_coding	YES	CCDS149.1	ENSP00000240189	O60811		UPI0000139EF9	NM_023014.1	deleterious(0)		3/4		PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF20,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		rs1264719576	.												A	3	1	3	12860087	12860087	C	A	1	0	0	0	0	1	0	0	0	12562	680	24	2		2	PRAMEF2	1	12860087	Missense_Mutation	SNP	C	11LU022_TP	1324455	12860087	236096335	4	676											
IGSF21	0	.	GRCh38	chr1	18365684	18365684	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgatgcccatgcaggcAgaggtcacgctgggtaagac	9	7	14	11	2	1	2	1	0	0	2	2	3	1	2	1	3	2	4	1	3	1	1	novel		11LU022_TP	11LU022_NB	A	A																c.1002A>T	p.=	p.A334A	ENST00000251296	6/10	59	50	9	139	139	0	strelka-varscan-mutect	IGSF21,synonymous_variant,p.=,ENST00000251296,NM_032880.4;IGSF21,non_coding_transcript_exon_variant,,ENST00000412684,;IGSF21,non_coding_transcript_exon_variant,,ENST00000497331,;	T	ENST00000251296	Transcript	synonymous_variant	1385/1943	1002/1404	334/467	A	gcA/gcT		1		1	IGSF21	HGNC	HGNC:28246	protein_coding	YES	CCDS184.1	ENSP00000251296	Q96ID5		UPI000006FCF2	NM_032880.4			6/10		hmmpanther:PTHR10489:SF442,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	18365684	18365684	A	T	1	0	0	0	0	0	0	0	1	7506	175	7	4		4	IGSF21	1	18365684	Silent	SNP	A	11LU022_TP	5505597	18365684	230590738	5	677											
AKR7A3	0	.	GRCh38	chr1	19282770	19282770	+	Missense_Mutation	SNP	C	C	A																															cattcgtgagtaaccaaatgCcaggcttgattaaaggcgtc																								rs760846108		11LU022_TP	11LU022_NB	C	C																c.957G>T	p.Trp319Cys	p.W319C	ENST00000361640	7/7	295	246	49	510	510	0	strelka-varscan-mutect	AKR7A3,missense_variant,p.Trp319Cys,ENST00000361640,NM_012067.2;	A	ENST00000361640	Transcript	missense_variant	1498/1710	957/996	319/331	W/C	tgG/tgT	rs760846108	1		-1	AKR7A3	HGNC	HGNC:390	protein_coding	YES	CCDS193.1	ENSP00000355377	O95154		UPI0000125D48	NM_012067.2	deleterious(0)		7/7		hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF277,Pfam_domain:PF00248,Gene3D:3.20.20.100,Superfamily_domains:SSF51430																	MODERATE	1	SNV	1			1										PASS		rs760846108	.												A	3	1	3	19282770	19282770	C	A	1	0	0	0	0	1	0	0	0	560	740	26	2		2	AKR7A3	1	19282770	Missense_Mutation	SNP	C	11LU022_TP	917086	19282770	229673652	6	678	18	2									
AKR7A3	0	.	GRCh38	chr1	19282771	19282771	+	Missense_Mutation	SNP	C	C	A																															attcgtgagtaaccaaatgcCaggcttgattaaaggcgtcc																								novel		11LU022_TP	11LU022_NB	C	C																c.956G>T	p.Trp319Leu	p.W319L	ENST00000361640	7/7	299	249	50	510	508	2	strelka-varscan-mutect	AKR7A3,missense_variant,p.Trp319Leu,ENST00000361640,NM_012067.2;	A	ENST00000361640	Transcript	missense_variant	1497/1710	956/996	319/331	W/L	tGg/tTg		1		-1	AKR7A3	HGNC	HGNC:390	protein_coding	YES	CCDS193.1	ENSP00000355377	O95154		UPI0000125D48	NM_012067.2	deleterious(0)		7/7		hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF277,Pfam_domain:PF00248,Gene3D:3.20.20.100,Superfamily_domains:SSF51430																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	19282771	19282771	C	A	1	0	0	0	0	1	0	0	0	560	595	21	2		2	AKR7A3	1	19282771	Missense_Mutation	SNP	C	11LU022_TP	1	19282771	229673651	7	679	18	2									
HSPG2	0	.	GRCh38	chr1	21838885	21838885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgttggtgacccggcagcGgtagcggcctgagtcctcag	5	9	15	12	3	1	2	1	2	0	0	2	2	2	2	3	4	2	3	3	4	1	3	rs755855793		11LU022_TP	11LU022_NB	G	G																c.10090C>A	p.Arg3364Ser	p.R3364S	ENST00000374695	74/97	135	112	23	236	236	0	strelka-varscan-mutect	HSPG2,missense_variant,p.Arg3364Ser,ENST00000374695,NM_005529.6,NM_001291860.1;HSPG2,missense_variant,p.Arg42Ser,ENST00000374676,;HSPG2,upstream_gene_variant,,ENST00000471322,;	T	ENST00000374695	Transcript	missense_variant	10170/14327	10090/13176	3364/4391	R/S	Cgc/Agc	rs755855793	1		-1	HSPG2	HGNC	HGNC:5273	protein_coding	YES	CCDS30625.1	ENSP00000363827	P98160		UPI0000212778	NM_005529.6,NM_001291860.1	tolerated(0.07)		74/97		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF273,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs755855793	.												T	3	4	3	21838885	21838885	G	T	1	0	0	0	0	1	0	0	0	7326	1116	39	1		1	HSPG2	1	21838885	Missense_Mutation	SNP	G	11LU022_TP	2556114	21838885	227117537	8	680											
SRRM1	0	.	GRCh38	chr1	24649029	24649029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaataaaacaaagacaGgtaataaccttttcttttct	18	12	5	6	0	2	2	0	0	2	2	2	3	2	2	1	1	2	1	1	1	7	7	novel		11LU022_TP	11LU022_NB	G	G																c.405G>T	p.Gln135His	p.Q135H	ENST00000323848	4/17	78	60	18	180	180	0	strelka-varscan-mutect	SRRM1,missense_variant,p.Gln135His,ENST00000323848,NM_005839.3;SRRM1,missense_variant,p.Gln135His,ENST00000447431,;SRRM1,missense_variant,p.Gln135His,ENST00000374389,NM_001303448.1,NM_001303449.1;SRRM1,missense_variant,p.Gln96His,ENST00000596378,;SRRM1,missense_variant,p.Gln96His,ENST00000593639,;SRRM1,splice_region_variant,,ENST00000479034,;SRRM1,splice_region_variant,,ENST00000468822,;SRRM1,splice_region_variant,,ENST00000490543,;SRRM1,splice_region_variant,,ENST00000495561,;SRRM1,splice_region_variant,,ENST00000478890,;SRRM1,upstream_gene_variant,,ENST00000496882,;SRRM1,downstream_gene_variant,,ENST00000466910,;SRRM1,upstream_gene_variant,,ENST00000470243,;SRRM1,upstream_gene_variant,,ENST00000485441,;SRRM1,splice_region_variant,,ENST00000462710,;SRRM1,splice_region_variant,,ENST00000494934,;SRRM1,downstream_gene_variant,,ENST00000600523,;	T	ENST00000323848	Transcript	missense_variant,splice_region_variant	720/4011	405/2715	135/904	Q/H	caG/caT		1		1	SRRM1	HGNC	HGNC:16638	protein_coding	YES	CCDS255.1	ENSP00000326261	Q8IYB3	A0A0S2Z4W1	UPI000013EBEB	NM_005839.3	deleterious_low_confidence(0)		4/17		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23148																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	24649029	24649029	G	T	1	0	0	0	0	1	0	0	0	15529	1014	35	2		2	SRRM1	1	24649029	Missense_Mutation	SNP	G	11LU022_TP	2810144	24649029	224307393	9	681											
ARID1A	0	.	GRCh38	chr1	26761433	26761433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagtcggacagcatcatGcatccttccatgaaccaatc	11	8	8	14	1	1	1	1	1	0	0	5	2	3	2	4	2	3	2	4	2	2	1	novel		11LU022_TP	11LU022_NB	G	G																c.2211G>T	p.Met737Ile	p.M737I	ENST00000324856	6/20	135	124	11	240	240	0	strelka-varscan-mutect	ARID1A,missense_variant,p.Met737Ile,ENST00000324856,NM_006015.4;ARID1A,missense_variant,p.Met356Ile,ENST00000636219,;ARID1A,missense_variant,p.Met354Ile,ENST00000430799,;ARID1A,missense_variant,p.Met354Ile,ENST00000374152,;ARID1A,missense_variant,p.Met737Ile,ENST00000457599,NM_139135.2;ARID1A,missense_variant,p.Met354Ile,ENST00000615191,;ARID1A,non_coding_transcript_exon_variant,,ENST00000636958,;ARID1A,upstream_gene_variant,,ENST00000636422,;ARID1A,upstream_gene_variant,,ENST00000430291,;	T	ENST00000324856	Transcript	missense_variant	2582/8577	2211/6858	737/2285	M/I	atG/atT		1		1	ARID1A	HGNC	HGNC:11110	protein_coding	YES	CCDS285.1	ENSP00000320485	O14497		UPI0000167B91	NM_006015.4	tolerated(0.38)		6/20		hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	26761433	26761433	G	T	1	0	0	0	0	1	0	0	0	1049	1319	46	2		2	ARID1A	1	26761433	Missense_Mutation	SNP	G	11LU022_TP	2112404	26761433	222194989	10	682											
KIAA0319L	0	.	GRCh38	chr1	35474875	35474875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggttatctggacactCtctccagcagataccaccag	10	8	10	13	0	2	1	0	0	2	1	4	2	3	2	3	3	2	3	3	3	2	2	novel		11LU022_TP	11LU022_NB	C	C																c.945G>T	p.Glu315Asp	p.E315D	ENST00000325722	5/21	95	63	32	130	130	0	strelka-varscan-mutect	KIAA0319L,missense_variant,p.Glu315Asp,ENST00000325722,NM_024874.4;KIAA0319L,missense_variant,p.Glu315Asp,ENST00000426982,;KIAA0319L,missense_variant,p.Glu315Asp,ENST00000440579,;KIAA0319L,intron_variant,,ENST00000431916,;KIAA0319L,downstream_gene_variant,,ENST00000469892,;KIAA0319L,non_coding_transcript_exon_variant,,ENST00000492888,;KIAA0319L,upstream_gene_variant,,ENST00000485551,;KIAA0319L,missense_variant,p.Glu315Asp,ENST00000482929,;KIAA0319L,missense_variant,p.Glu315Asp,ENST00000478463,;KIAA0319L,3_prime_UTR_variant,,ENST00000470388,;	A	ENST00000325722	Transcript	missense_variant	1180/4789	945/3150	315/1049	E/D	gaG/gaT		1		-1	KIAA0319L	HGNC	HGNC:30071	protein_coding	YES	CCDS390.1	ENSP00000318406	Q8IZA0		UPI000003F081	NM_024874.4	tolerated(1)		5/21		hmmpanther:PTHR10083:SF166,hmmpanther:PTHR10083,SMART_domains:SM00089																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	35474875	35474875	C	A	1	0	0	0	0	1	0	0	0	8081	912	32	2		2	KIAA0319L	1	35474875	Missense_Mutation	SNP	C	11LU022_TP	8713442	35474875	213481547	11	683											
ERI3	0	.	GRCh38	chr1	44284896	44284896	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcccaagtactggcacTggcctgggagcctacaaaaa	13	5	11	12	0	0	0	0	0	0	0	0	1	0	1	3	3	4	3	3	3	6	2	novel		11LU022_TP	11LU022_NB	T	T																c.770A>T	p.Gln257Leu	p.Q257L	ENST00000372257	7/9	208	140	68	222	222	0	strelka-varscan-mutect	ERI3,missense_variant,p.Gln257Leu,ENST00000372257,NM_001301698.1,NM_024066.2;ERI3,missense_variant,p.Gln142Leu,ENST00000372259,;ERI3,missense_variant,p.Gln96Leu,ENST00000456170,;ERI3,missense_variant,p.Gln139Leu,ENST00000452396,;ERI3,non_coding_transcript_exon_variant,,ENST00000495828,;	A	ENST00000372257	Transcript	missense_variant	952/1684	770/1014	257/337	Q/L	cAg/cTg		1		-1	ERI3	HGNC	HGNC:17276	protein_coding	YES	CCDS30696.1	ENSP00000361331	O43414		UPI00001C1D9B	NM_001301698.1,NM_024066.2	deleterious(0)		7/9		Gene3D:3.30.420.10,Pfam_domain:PF00929,hmmpanther:PTHR23044,SMART_domains:SM00479,Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	44284896	44284896	T	A	1	0	0	0	0	1	0	0	0	5080	1580	55	4		4	ERI3	1	44284896	Missense_Mutation	SNP	T	11LU022_TP	8810021	44284896	204671526	12	684											
MKNK1	0	.	GRCh38	chr1	46568460	46568460	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttttctggagattcacAcaatatattttctggtttca	10	18	5	8	0	4	1	2	0	2	1	4	2	4	1	1	2	1	1	1	2	4	9	novel		11LU022_TP	11LU022_NB	A	A																c.655T>G	p.Cys219Gly	p.C219G	ENST00000371946	9/14	245	159	86	270	270	0	strelka-varscan-mutect	MKNK1,missense_variant,p.Cys219Gly,ENST00000371946,NM_003684.5;MKNK1,missense_variant,p.Cys178Gly,ENST00000371945,NM_001135553.2;MKNK1,missense_variant,p.Cys83Gly,ENST00000341183,;MKNK1,missense_variant,p.Cys178Gly,ENST00000428112,NM_198973.3;MKNK1,missense_variant,p.Cys178Gly,ENST00000496619,;MKNK1,upstream_gene_variant,,ENST00000524749,;MKNK1-AS1,intron_variant,,ENST00000602433,;MKNK1,non_coding_transcript_exon_variant,,ENST00000342571,;MKNK1,non_coding_transcript_exon_variant,,ENST00000532783,;MKNK1,non_coding_transcript_exon_variant,,ENST00000460098,;MKNK1,upstream_gene_variant,,ENST00000470237,;MKNK1,downstream_gene_variant,,ENST00000528237,;MKNK1,3_prime_UTR_variant,,ENST00000528077,;MKNK1,3_prime_UTR_variant,,ENST00000531355,;MKNK1,non_coding_transcript_exon_variant,,ENST00000532897,;MKNK1,downstream_gene_variant,,ENST00000526513,;MKNK1,upstream_gene_variant,,ENST00000524417,;	C	ENST00000371946	Transcript	missense_variant	819/2719	655/1398	219/465	C/G	Tgt/Ggt		1		-1	MKNK1	HGNC	HGNC:7110	protein_coding	YES	CCDS538.1	ENSP00000361014	Q9BUB5		UPI0000073749	NM_003684.5	deleterious(0)		9/14		PROSITE_profiles:PS50011,hmmpanther:PTHR24349:SF114,hmmpanther:PTHR24349,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	46568460	46568460	A	C	1	0	0	0	0	1	0	0	0	9571	159	6	5		5	MKNK1	1	46568460	Missense_Mutation	SNP	A	11LU022_TP	2283564	46568460	202387962	13	685											
GLIS1	0	.	GRCh38	chr1	53520712	53520712	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggacgtgtggagctgctGcaggaccagacactcggtca	8	8	15	10	2	1	1	1	0	0	1	2	4	1	4	1	4	3	3	1	4	0	0	novel		11LU022_TP	11LU022_NB	G	G																c.1123C>T	p.Gln375Ter	p.Q375*	ENST00000312233	6/10	135	79	56	143	143	0	strelka-varscan-mutect	GLIS1,stop_gained,p.Gln375Ter,ENST00000312233,NM_147193.2;GLIS1,stop_gained,p.Gln550Ter,ENST00000628545,;	A	ENST00000312233	Transcript	stop_gained	1690/2812	1123/1863	375/620	Q/*	Cag/Tag		1		-1	GLIS1	HGNC	HGNC:29525	protein_coding	YES	CCDS582.1	ENSP00000309653	Q8NBF1		UPI000013F293	NM_147193.2			6/10		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF93																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	3	53520712	53520712	G	A	1	0	0	0	0	0	1	0	0	6323	1328	46	3		3	GLIS1	1	53520712	Nonsense_Mutation	SNP	G	11LU022_TP	6952252	53520712	195435710	14	686											
FOXD3	0	.	GRCh38	chr1	63323414	63323414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggcggcgcgagcggcggcgGgcctggcgcgggcagcggtt	2	3	24	12	9	0	0	0	0	0	0	0	1	0	0	1	8	2	2	1	8	0	1	novel		11LU022_TP	11LU022_NB	G	G																c.356G>T	p.Gly119Val	p.G119V	ENST00000371116	1/1	84	49	35	123	123	0	strelka-varscan-mutect	FOXD3,missense_variant,p.Gly119Val,ENST00000371116,NM_012183.2;MIR6068,downstream_gene_variant,,ENST00000615405,;FOXD3-AS1,intron_variant,,ENST00000431294,;FOXD3-AS1,intron_variant,,ENST00000427268,;FOXD3-AS1,upstream_gene_variant,,ENST00000418244,;FOXD3-AS1,upstream_gene_variant,,ENST00000449386,;FOXD3-AS1,upstream_gene_variant,,ENST00000426393,;	T	ENST00000371116	Transcript	missense_variant	374/2086	356/1437	119/478	G/V	gGg/gTg		1		1	FOXD3	HGNC	HGNC:3804	protein_coding	YES	CCDS624.1	ENSP00000360157	Q9UJU5		UPI000012ADCB	NM_012183.2	tolerated(0.06)		1/1		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF162,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												T	3	4	3	63323414	63323414	G	T	1	0	0	0	0	1	0	0	0	5858	1232	43	2		2	FOXD3	1	63323414	Missense_Mutation	SNP	G	11LU022_TP	9802702	63323414	185633008	15	687											
DNAJC6	0	.	GRCh38	chr1	65392690	65392690	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccagcggctcctcccacCaattctgaactactgagtga	9	8	8	16	2	1	3	0	3	1	0	3	3	3	3	5	1	3	1	5	1	3	2	novel		11LU022_TP	11LU022_NB	C	C																c.1728C>A	p.=	p.T576T	ENST00000371069	12/19	87	46	41	73	73	0	strelka-varscan-mutect	DNAJC6,synonymous_variant,p.=,ENST00000263441,NM_001256865.1;DNAJC6,synonymous_variant,p.=,ENST00000395325,NM_014787.3;DNAJC6,synonymous_variant,p.=,ENST00000371069,NM_001256864.1;DNAJC6,downstream_gene_variant,,ENST00000494710,;DNAJC6,downstream_gene_variant,,ENST00000498720,;	A	ENST00000371069	Transcript	synonymous_variant	1929/5365	1728/2913	576/970	T	acC/acA		1		1	DNAJC6	HGNC	HGNC:15469	protein_coding	YES	CCDS58004.1	ENSP00000360108	O75061		UPI000022AE8A	NM_001256864.1			12/19		hmmpanther:PTHR23172:SF4,hmmpanther:PTHR23172																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	65392690	65392690	C	A	1	0	0	0	0	0	0	0	1	4466	581	21	2		2	DNAJC6	1	65392690	Silent	SNP	C	11LU022_TP	2069276	65392690	183563732	16	688											
PDE4B	0	.	GRCh38	chr1	66363518	66363518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catatcacaacagcctgcacGctgctgatgtagcccagtcg	10	8	9	14	2	1	1	1	1	0	0	2	1	1	1	2	0	5	4	2	0	3	2	rs752353754		11LU022_TP	11LU022_NB	G	G																c.1231G>T	p.Ala411Ser	p.A411S	ENST00000329654	12/17	103	68	35	105	105	0	strelka-varscan-mutect	PDE4B,missense_variant,p.Ala396Ser,ENST00000423207,NM_001037340.2;PDE4B,missense_variant,p.Ala411Ser,ENST00000329654,NM_001297440.1,NM_001037341.1,NM_001297441.1;PDE4B,missense_variant,p.Ala239Ser,ENST00000371045,NM_001037339.2;PDE4B,missense_variant,p.Ala411Ser,ENST00000341517,NM_002600.3;PDE4B,missense_variant,p.Ala178Ser,ENST00000480109,NM_001297442.1;PDE4B,downstream_gene_variant,,ENST00000531025,;PDE4B,downstream_gene_variant,,ENST00000526197,;PDE4B,downstream_gene_variant,,ENST00000528771,;PDE4B,downstream_gene_variant,,ENST00000524999,;PDE4B,downstream_gene_variant,,ENST00000534463,;PDE4B,upstream_gene_variant,,ENST00000483863,;	T	ENST00000329654	Transcript	missense_variant	1418/3998	1231/2211	411/736	A/S	Gct/Tct	rs752353754	1		1	PDE4B	HGNC	HGNC:8781	protein_coding	YES	CCDS632.1	ENSP00000332116	Q07343	X5DNX5	UPI0000127BF6	NM_001297440.1,NM_001037341.1,NM_001297441.1	deleterious(0.02)		12/17		hmmpanther:PTHR11347:SF108,hmmpanther:PTHR11347,Pfam_domain:PF00233,Gene3D:1.10.1300.10,SMART_domains:SM00471,Superfamily_domains:SSF109604,Prints_domain:PR00387																	MODERATE	1	SNV	1			1										PASS		rs752353754	.												T	3	4	3	66363518	66363518	G	T	1	0	0	0	0	1	0	0	0	11728	1087	38	1		1	PDE4B	1	66363518	Missense_Mutation	SNP	G	11LU022_TP	970828	66363518	182592904	17	689											
MSH4	0	.	GRCh38	chr1	75899635	75899635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taggattaaaagctgcagagGtgtcatcacttccaccatca	13	10	8	10	0	3	1	3	0	0	1	4	2	4	2	2	2	2	2	2	2	3	3	novel		11LU022_TP	11LU022_NB	G	G																c.2548G>T	p.Val850Leu	p.V850L	ENST00000263187	19/20	84	58	26	112	111	1	strelka-varscan-mutect	MSH4,missense_variant,p.Val850Leu,ENST00000263187,NM_002440.3;	T	ENST00000263187	Transcript	missense_variant	2652/3266	2548/2811	850/936	V/L	Gtg/Ttg		1		1	MSH4	HGNC	HGNC:7327	protein_coding	YES	CCDS670.1	ENSP00000263187	O15457		UPI000006D934	NM_002440.3	tolerated(0.74)		19/20		Gene3D:3.40.50.300,Pfam_domain:PF00488,hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF21,SMART_domains:SM00534,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	75899635	75899635	G	T	1	0	0	0	0	1	0	0	0	9855	1261	44	2		2	MSH4	1	75899635	Missense_Mutation	SNP	G	11LU022_TP	9536117	75899635	173056787	18	690											
ST6GALNAC5	0	.	GRCh38	chr1	77044469	77044469	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctggggccccagcagctAcatgcggcgggacggcaagg	7	5	16	13	3	1	0	0	0	1	0	1	1	1	1	2	6	4	3	2	6	2	2	rs372192396		11LU022_TP	11LU022_NB	A	A																c.527A>T	p.Tyr176Phe	p.Y176F	ENST00000477717	3/5	104	69	35	116	116	0	strelka-varscan-mutect	ST6GALNAC5,missense_variant,p.Tyr176Phe,ENST00000477717,NM_030965.1;ST6GALNAC5,non_coding_transcript_exon_variant,,ENST00000488940,;ST6GALNAC5,missense_variant,p.Tyr176Phe,ENST00000318803,;	T	ENST00000477717	Transcript	missense_variant	762/3751	527/1011	176/336	Y/F	tAc/tTc	rs372192396	1		1	ST6GALNAC5	HGNC	HGNC:19342	protein_coding	YES	CCDS673.1	ENSP00000417583	Q9BVH7		UPI0000001C9F	NM_030965.1			3/5		Pfam_domain:PF00777,hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF33																	MODERATE	1	SNV	1			1										PASS		rs372192396	.												T	3	4	3	77044469	77044469	A	T	1	0	0	0	0	1	0	0	0	15605	391	14	4		4	ST6GALNAC5	1	77044469	Missense_Mutation	SNP	A	11LU022_TP	1144834	77044469	171911953	19	691											
ADGRL2	0	.	GRCh38	chr1	81968030	81968030	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattttatttcccagcctgAcaattatttcaatgcaaact	12	16	3	10	0	2	1	2	1	0	0	3	1	3	1	2	0	3	1	2	0	5	5	novel		11LU022_TP	11LU022_NB	A	A																c.2303A>G	p.Asp768Gly	p.D768G	ENST00000319517	12/20	188	109	79	181	181	0	strelka-varscan-mutect	ADGRL2,missense_variant,p.Asp781Gly,ENST00000370728,;ADGRL2,missense_variant,p.Asp781Gly,ENST00000370730,;ADGRL2,missense_variant,p.Asp781Gly,ENST00000370717,;ADGRL2,missense_variant,p.Asp781Gly,ENST00000627151,;ADGRL2,missense_variant,p.Asp768Gly,ENST00000370715,NM_001297705.1;ADGRL2,missense_variant,p.Asp768Gly,ENST00000319517,NM_012302.3;ADGRL2,missense_variant,p.Asp768Gly,ENST00000370713,NM_001297706.1;ADGRL2,missense_variant,p.Asp781Gly,ENST00000370725,;ADGRL2,missense_variant,p.Asp768Gly,ENST00000370723,;ADGRL2,missense_variant,p.Asp781Gly,ENST00000370727,;ADGRL2,missense_variant,p.Asp706Gly,ENST00000370721,;ADGRL2,missense_variant,p.Asp768Gly,ENST00000359929,NM_001297704.1;ADGRL2,missense_variant,p.Asp649Gly,ENST00000449420,;ADGRL2,intron_variant,,ENST00000469377,;ADGRL2,downstream_gene_variant,,ENST00000468283,;	G	ENST00000319517	Transcript	missense_variant	2519/5479	2303/4212	768/1403	D/G	gAc/gGc		1		1	ADGRL2	HGNC	HGNC:18582	protein_coding	YES	CCDS689.1	ENSP00000322270	O95490		UPI000005046B	NM_012302.3	deleterious(0)		12/20		hmmpanther:PTHR12011:SF61,hmmpanther:PTHR12011																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	81968030	81968030	A	G	1	0	0	0	0	1	0	0	0	376	289	10	5		5	ADGRL2	1	81968030	Missense_Mutation	SNP	A	11LU022_TP	4923561	81968030	166988392	20	692											
NTNG1	0	.	GRCh38	chr1	107430870	107430870	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagttatgcaggctgggctActtcagaaatgcttctgcac	9	12	11	9	0	2	2	1	1	1	1	2	2	2	2	0	2	4	6	0	2	3	4	novel		11LU022_TP	11LU022_NB	A	A																c.1208A>G	p.Tyr403Cys	p.Y403C	ENST00000370068	6/8	107	88	19	129	129	0	strelka-varscan-mutect	NTNG1,missense_variant,p.Tyr403Cys,ENST00000370068,;NTNG1,missense_variant,p.Tyr403Cys,ENST00000370073,NM_001113226.1;NTNG1,missense_variant,p.Tyr403Cys,ENST00000370065,;NTNG1,intron_variant,,ENST00000370067,;NTNG1,intron_variant,,ENST00000370071,NM_001113228.1;NTNG1,intron_variant,,ENST00000370074,NM_014917.2;NTNG1,intron_variant,,ENST00000370066,;	G	ENST00000370068	Transcript	missense_variant	2054/4034	1208/1620	403/539	Y/C	tAc/tGc		1		1	NTNG1	HGNC	HGNC:23319	protein_coding	YES	CCDS44180.1	ENSP00000359085	Q9Y2I2		UPI0000458A3E		deleterious(0.02)		6/8		PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF28,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,Superfamily_domains:SSF57196																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	3	107430870	107430870	A	G	1	0	0	0	0	1	0	0	0	10769	391	14	5		5	NTNG1	1	107430870	Missense_Mutation	SNP	A	11LU022_TP	25462840	107430870	141525552	21	693											
SLC6A17	0	.	GRCh38	chr1	110197480	110197480	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggcttccgcccctacCgcttctatttctacatgtgg	4	14	9	14	2	2	0	0	0	2	0	3	0	3	0	4	2	3	3	4	2	3	6			11LU022_TP	11LU022_NB	C	C																c.1696C>A	p.Arg566Ser	p.R566S	ENST00000331565	11/12	94	55	39	114	114	0	strelka-varscan-mutect	SLC6A17,missense_variant,p.Arg566Ser,ENST00000331565,NM_001010898.2;SLC6A17,downstream_gene_variant,,ENST00000465159,;	A	ENST00000331565	Transcript	missense_variant	2181/6427	1696/2184	566/727	R/S	Cgc/Agc	COSM1332554	1		1	SLC6A17	HGNC	HGNC:31399	protein_coding	YES	CCDS30799.1	ENSP00000330199	Q9H1V8		UPI0000470B3D	NM_001010898.2	tolerated(0.4)		11/12		PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF102,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687											1						MODERATE	1	SNV	2		1	1										PASS		rs1467204933	.												A	3	1	3	110197480	110197480	C	A	1	0	0	0	0	1	0	0	0	14963	652	23	1		1	SLC6A17	1	110197480	Missense_Mutation	SNP	C	11LU022_TP	2766610	110197480	138758942	22	694											
KCNC4	0	.	GRCh38	chr1	110223760	110223760	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagctgcccaagaaacGgaagaagcacgtgccacggc	14	2	13	12	3	0	3	0	0	0	3	0	4	0	4	2	2	5	3	2	2	5	0	rs140378578		11LU022_TP	11LU022_NB	G	G																c.1475G>C	p.Arg492Pro	p.R492P	ENST00000369787	2/4	131	96	35	169	169	0	strelka-varscan-mutect	KCNC4,missense_variant,p.Arg492Pro,ENST00000369787,NM_004978.4;KCNC4,missense_variant,p.Arg492Pro,ENST00000413138,;KCNC4,missense_variant,p.Arg492Pro,ENST00000438661,NM_001039574.2;KCNC4,upstream_gene_variant,,ENST00000636402,;KCNC4,intron_variant,,ENST00000412512,;KCNC4,missense_variant,p.Arg492Pro,ENST00000469655,;KCNC4,non_coding_transcript_exon_variant,,ENST00000459877,;KCNC4,non_coding_transcript_exon_variant,,ENST00000489935,;	C	ENST00000369787	Transcript	missense_variant	1502/18750	1475/1908	492/635	R/P	cGg/cCg	rs140378578,COSM1134396,COSM458738	1		1	KCNC4	HGNC	HGNC:6236	protein_coding	YES	CCDS821.1	ENSP00000358802	Q03721		UPI000013CAC8	NM_004978.4	deleterious(0.01)		2/4		Prints_domain:PR01498,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF48											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs140378578	.												C	3	2	3	110223760	110223760	G	C	1	0	0	0	0	1	0	0	0	7933	1116	39	4		4	KCNC4	1	110223760	Missense_Mutation	SNP	G	11LU022_TP	26280	110223760	138732662	23	695											
KCNC4	0	.	GRCh38	chr1	110223791	110223791	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccacggccggcgcagctGgagtcacccatgtactgcaa	8	6	13	14	3	1	0	1	0	0	0	1	1	1	1	3	3	4	4	3	3	2	1	novel		11LU022_TP	11LU022_NB	G	G																c.1506G>T	p.=	p.L502L	ENST00000369787	2/4	74	58	16	104	104	0	strelka-varscan-mutect	KCNC4,synonymous_variant,p.=,ENST00000369787,NM_004978.4;KCNC4,synonymous_variant,p.=,ENST00000413138,;KCNC4,synonymous_variant,p.=,ENST00000438661,NM_001039574.2;KCNC4,upstream_gene_variant,,ENST00000636402,;KCNC4,intron_variant,,ENST00000412512,;KCNC4,synonymous_variant,p.=,ENST00000469655,;KCNC4,non_coding_transcript_exon_variant,,ENST00000459877,;KCNC4,non_coding_transcript_exon_variant,,ENST00000489935,;	T	ENST00000369787	Transcript	synonymous_variant	1533/18750	1506/1908	502/635	L	ctG/ctT		1		1	KCNC4	HGNC	HGNC:6236	protein_coding	YES	CCDS821.1	ENSP00000358802	Q03721		UPI000013CAC8	NM_004978.4			2/4		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF48																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	110223791	110223791	G	T	1	0	0	0	0	0	0	0	1	7933	1335	47	2		2	KCNC4	1	110223791	Silent	SNP	G	11LU022_TP	31	110223791	138732631	24	696											
CD101	0	.	GRCh38	chr1	117011558	117011558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgtttccagttattccaGataccctctctgccaccatg	7	15	5	14	0	1	1	0	0	1	1	4	1	3	1	5	0	2	2	5	0	2	5	novel		11LU022_TP	11LU022_NB	G	G																c.433G>C	p.Asp145His	p.D145H	ENST00000369470	3/10	60	38	22	76	76	0	strelka-varscan-mutect	CD101,missense_variant,p.Asp145His,ENST00000369470,NM_001256109.2,NM_001256106.2,NM_004258.5,NM_001256111.2;CD101,missense_variant,p.Asp145His,ENST00000256652,;	C	ENST00000369470	Transcript	missense_variant	439/3324	433/3066	145/1021	D/H	Gat/Cat		1		1	CD101	HGNC	HGNC:5949	protein_coding	YES	CCDS891.1	ENSP00000358482	Q93033		UPI000013CF1F	NM_001256109.2,NM_001256106.2,NM_004258.5,NM_001256111.2	deleterious(0)		3/10		PROSITE_profiles:PS50835,hmmpanther:PTHR12207:SF25,hmmpanther:PTHR12207,Gene3D:2.60.40.10																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	117011558	117011558	G	C	1	0	0	0	0	1	0	0	0	2665	942	33	4		4	CD101	1	117011558	Missense_Mutation	SNP	G	11LU022_TP	6787767	117011558	131944864	25	697											
ADAM30	0	.	GRCh38	chr1	119894489	119894489	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caattttttttaaaacatacCcggccttctccacaggaggt	11	13	6	11	1	1	0	0	0	1	0	2	1	1	1	3	3	2	0	3	3	4	6	novel		11LU022_TP	11LU022_NB	C	C																c.1848G>T	p.=	p.R616R	ENST00000369400	1/1	190	160	30	189	189	0	strelka-varscan-mutect	ADAM30,synonymous_variant,p.=,ENST00000369400,NM_021794.3;	A	ENST00000369400	Transcript	synonymous_variant	2007/2963	1848/2373	616/790	R	cgG/cgT		1		-1	ADAM30	HGNC	HGNC:208	protein_coding	YES	CCDS907.1	ENSP00000358407	Q9UKF2		UPI000004C638	NM_021794.3			1/1		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF148,SMART_domains:SM00608																	LOW	1	SNV				1										PASS		.	.												A	2	1	3	119894489	119894489	C	A	1	0	0	0	0	0	0	0	1	292	610	22	2		2	ADAM30	1	119894489	Silent	SNP	C	11LU022_TP	2882931	119894489	129061933	26	698											
NOTCH2	0	.	GRCh38	chr1	119925738	119925738	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggggtccagaggcggTgtgcacacactgctccccct	6	6	14	15	2	0	1	0	0	0	1	2	1	2	1	3	4	3	3	3	4	0	0	rs76636885		11LU022_TP	11LU022_NB	T	T																c.4078A>T	p.Thr1360Ser	p.T1360S	ENST00000256646	25/34	61	47	14	102	102	0	strelka-varscan-mutect	NOTCH2,missense_variant,p.Thr1360Ser,ENST00000256646,NM_024408.3;NOTCH2,upstream_gene_variant,,ENST00000493703,;	A	ENST00000256646	Transcript	missense_variant	4298/11389	4078/7416	1360/2471	T/S	Acc/Tcc	rs76636885	1		-1	NOTCH2	HGNC	HGNC:7882	protein_coding	YES	CCDS908.1	ENSP00000256646	Q04721		UPI000013CF1D	NM_024408.3	tolerated(0.68)		25/34		PIRSF_domain:PIRSF002279,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF66,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		rs76636885	.												A	3	1	3	119925738	119925738	T	A	1	0	0	0	0	1	0	0	0	10593	1696	59	4		4	NOTCH2	1	119925738	Missense_Mutation	SNP	T	11LU022_TP	31249	119925738	129030684	27	699											
ADAMTSL4	0	.	GRCh38	chr1	150556662	150556662	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatcatcaatgggaacTgggctgtggatccccctggg	7	9	14	11	0	2	0	2	0	0	0	4	2	4	2	3	5	1	1	3	5	2	0	novel		11LU022_TP	11LU022_NB	T	T																c.1687T>C	p.Trp563Arg	p.W563R	ENST00000369039	11/20	323	212	111	336	336	0	strelka-varscan-mutect	ADAMTSL4,missense_variant,p.Trp563Arg,ENST00000369039,NM_001288608.1,NM_001288607.1;ADAMTSL4,missense_variant,p.Trp540Arg,ENST00000271643,NM_019032.5;ADAMTSL4,missense_variant,p.Trp540Arg,ENST00000369038,;ADAMTSL4,missense_variant,p.Trp540Arg,ENST00000369041,NM_025008.4;MIR4257,downstream_gene_variant,,ENST00000581735,;RP11-54A4.2,non_coding_transcript_exon_variant,,ENST00000442435,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000617352,;ADAMTSL4,downstream_gene_variant,,ENST00000483335,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000369035,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000615012,;ADAMTSL4,upstream_gene_variant,,ENST00000489159,;	C	ENST00000369039	Transcript	missense_variant	1976/4319	1687/3294	563/1097	W/R	Tgg/Cgg		1		1	ADAMTSL4	HGNC	HGNC:19706	protein_coding	YES	CCDS72908.1	ENSP00000358035	Q6UY14		UPI0001AE7902	NM_001288608.1,NM_001288607.1	deleterious(0)		11/20		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF144,Pfam_domain:PF05986																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	3	150556662	150556662	T	C	1	0	0	0	0	1	0	0	0	321	1580	55	5		5	ADAMTSL4	1	150556662	Missense_Mutation	SNP	T	11LU022_TP	30630924	150556662	98399760	28	700											
BNIPL	0	.	GRCh38	chr1	151043671	151043671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgagtggaggcacaagcagGgcccaagttccacctctaag	11	7	12	11	0	1	1	0	1	1	0	2	2	2	2	3	3	1	3	3	3	3	3	novel		11LU022_TP	11LU022_NB	G	G																c.795G>T	p.Arg265Ser	p.R265S	ENST00000368931	7/10	207	162	45	146	145	1	strelka-varscan-mutect	BNIPL,missense_variant,p.Arg183Ser,ENST00000295294,NM_001159642.1;BNIPL,missense_variant,p.Arg265Ser,ENST00000368931,NM_138278.3;BNIPL,missense_variant,p.Arg249Ser,ENST00000361277,;C1orf56,upstream_gene_variant,,ENST00000368926,NM_017860.3;BNIPL,downstream_gene_variant,,ENST00000392802,;C1orf56,upstream_gene_variant,,ENST00000465135,;BNIPL,upstream_gene_variant,,ENST00000491386,;C1orf56,upstream_gene_variant,,ENST00000473308,;BNIPL,missense_variant,p.Arg183Ser,ENST00000485855,;	T	ENST00000368931	Transcript	missense_variant	951/2143	795/1074	265/357	R/S	agG/agT		1		1	BNIPL	HGNC	HGNC:16976	protein_coding	YES	CCDS978.2	ENSP00000357927	Q7Z465		UPI00001B94EF	NM_138278.3	deleterious(0)		7/10		Gene3D:3.40.525.10,Pfam_domain:PF13716,PROSITE_profiles:PS50191,hmmpanther:PTHR12112,hmmpanther:PTHR12112:SF21,SMART_domains:SM00516,Superfamily_domains:SSF52087																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	151043671	151043671	G	T	1	0	0	0	0	1	0	0	0	1636	1223	43	2		2	BNIPL	1	151043671	Missense_Mutation	SNP	G	11LU022_TP	487009	151043671	97912751	29	701											
CELF3	0	.	GRCh38	chr1	151707867	151707867	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaactgggtggccacctgCtgcatgcggcggagacctcg	6	6	14	15	3	0	1	0	0	0	1	1	2	0	1	4	4	4	2	4	4	1	0	novel		11LU022_TP	11LU022_NB	C	C																c.555G>A	p.=	p.Q185Q	ENST00000290583	6/13	240	165	75	205	204	1	strelka-varscan-mutect	CELF3,synonymous_variant,p.=,ENST00000290583,NM_001291106.1,NM_001172648.3,NM_007185.6,NM_001291107.1;CELF3,synonymous_variant,p.=,ENST00000420342,;CELF3,synonymous_variant,p.=,ENST00000290585,NM_001172649.3;RIIAD1,upstream_gene_variant,,ENST00000326413,;RP11-98D18.1,intron_variant,,ENST00000457548,;CELF3,non_coding_transcript_exon_variant,,ENST00000470688,;CELF3,non_coding_transcript_exon_variant,,ENST00000479893,;CELF3,downstream_gene_variant,,ENST00000478829,;CELF3,non_coding_transcript_exon_variant,,ENST00000419910,;	T	ENST00000290583	Transcript	synonymous_variant	1349/3246	555/1398	185/465	Q	caG/caA		1		-1	CELF3	HGNC	HGNC:11967	protein_coding	YES	CCDS1002.1	ENSP00000290583	Q5SZQ8		UPI000013F059	NM_001291106.1,NM_001172648.3,NM_007185.6,NM_001291107.1			6/13		Superfamily_domains:SSF54928																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	151707867	151707867	C	T	1	0	0	0	0	0	0	0	1	2924	796	28	3		3	CELF3	1	151707867	Silent	SNP	C	11LU022_TP	664196	151707867	97248555	30	702											
HRNR	0	.	GRCh38	chr1	152220317	152220317	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccatgttggccggagcTgggagactgccctgacccag	7	7	14	13	1	0	2	0	1	0	1	1	4	1	3	4	3	2	2	4	3	0	1	novel		11LU022_TP	11LU022_NB	T	T																c.1312A>T	p.Ser438Cys	p.S438C	ENST00000368801	3/3	537	420	117	460	460	0	strelka-varscan-mutect	HRNR,missense_variant,p.Ser438Cys,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	A	ENST00000368801	Transcript	missense_variant	1388/9623	1312/8553	438/2850	S/C	Agc/Tgc		1		-1	HRNR	HGNC	HGNC:20846	protein_coding	YES	CCDS30859.1	ENSP00000357791	Q86YZ3		UPI00001D7CAD	NM_001009931.2	tolerated(0.11)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	152220317	152220317	T	A	1	0	0	0	0	1	0	0	0	7254	1580	55	4		4	HRNR	1	152220317	Missense_Mutation	SNP	T	11LU022_TP	512450	152220317	96736105	31	703											
FLG	0	.	GRCh38	chr1	152303351	152303351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgattcaccctggccGgactgtgagtgtctagagct	6	10	12	13	2	2	3	1	2	1	1	2	4	2	4	3	2	1	2	3	2	1	2	rs564072147		11LU022_TP	11LU022_NB	G	G																c.11535C>T	p.=	p.S3845S	ENST00000368799	3/3	725	566	159	576	575	1	strelka-varscan-mutect	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	A	ENST00000368799	Transcript	synonymous_variant	11571/12747	11535/12186	3845/4061	S	tcC/tcT	rs564072147,COSM896083	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571,Pfam_domain:PF03516											0,1						LOW	1	SNV	1		0,1	1										PASS		rs564072147	.												A	2	1	3	152303351	152303351	G	A	1	0	0	0	0	0	0	0	1	5784	1103	39	1		1	FLG	1	152303351	Silent	SNP	G	11LU022_TP	83034	152303351	96653071	32	704											
FLG	0	.	GRCh38	chr1	152311163	152311163	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagagctgtcagcccaagaGgcagcttcatggtgacgtga	10	8	13	10	1	2	4	2	2	0	2	2	4	2	4	1	2	3	3	1	2	2	2			11LU022_TP	11LU022_NB	G	G																c.3723C>A	p.=	p.A1241A	ENST00000368799	3/3	567	444	123	468	468	0	strelka-varscan-mutect	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	T	ENST00000368799	Transcript	synonymous_variant	3759/12747	3723/12186	1241/4061	A	gcC/gcA	COSM3474046	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1			3/3		Pfam_domain:PF03516											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	3	152311163	152311163	G	T	1	0	0	0	0	0	0	0	1	5784	987	35	2		2	FLG	1	152311163	Silent	SNP	G	11LU022_TP	7812	152311163	96645259	33	705											
LCE3A	0	.	GRCh38	chr1	152622922	152622922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagttggagctctggcaaCggcaacggtgagacctgcgg	9	6	17	9	3	1	1	0	1	1	1	1	4	1	3	1	6	4	4	1	6	2	1	rs547378092		11LU022_TP	11LU022_NB	C	C																c.182G>T	p.Arg61Leu	p.R61L	ENST00000335674	1/1	484	408	76	349	349	0	strelka-varscan-mutect	LCE3A,missense_variant,p.Arg61Leu,ENST00000335674,NM_178431.1;	A	ENST00000335674	Transcript	missense_variant	182/270	182/270	61/89	R/L	cGt/cTt	rs547378092	1		-1	LCE3A	HGNC	HGNC:29461	protein_coding	YES	CCDS1017.1	ENSP00000335006	Q5TA76		UPI00001927D2	NM_178431.1	tolerated_low_confidence(0.09)		1/1		Pfam_domain:PF14672,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF54,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		rs547378092	.												A	3	1	3	152622922	152622922	C	A	1	0	0	0	0	1	0	0	0	8574	536	19	1		1	LCE3A	1	152622922	Missense_Mutation	SNP	C	11LU022_TP	311759	152622922	96333500	34	706											
LCE1E	0	.	GRCh38	chr1	152787528	152787528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggaggtggctgctgcCtgagccaccacaggcaccac	7	5	15	14	0	0	1	0	1	0	0	0	2	0	2	4	5	3	3	4	5	0	0			11LU022_TP	11LU022_NB	C	C																c.229C>A	p.Leu77Met	p.L77M	ENST00000368770	2/2	351	314	37	287	287	0	strelka-varscan-mutect	LCE1E,missense_variant,p.Leu77Met,ENST00000368770,NM_178353.1;LCE1E,missense_variant,p.Leu77Met,ENST00000368771,;LCE1E,missense_variant,p.Leu47Met,ENST00000619588,;	A	ENST00000368770	Transcript	missense_variant	282/1180	229/357	77/118	L/M	Ctg/Atg	COSM5377693	1		1	LCE1E	HGNC	HGNC:29466	protein_coding	YES	CCDS1024.1	ENSP00000357759	Q5T753		UPI0000161050	NM_178353.1	deleterious_low_confidence(0)		2/2		Pfam_domain:PF14672,hmmpanther:PTHR23263											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	3	152787528	152787528	C	A	1	0	0	0	0	1	0	0	0	8568	680	24	2		2	LCE1E	1	152787528	Missense_Mutation	SNP	C	11LU022_TP	164606	152787528	96168894	35	707											
IVL	0	.	GRCh38	chr1	152910502	152910502	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggaggggcagctggagctCccacagcagcaggaggggca	10	2	18	11	0	0	0	0	0	0	0	1	3	1	3	1	7	4	6	1	7	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.705C>T	p.=	p.L235L	ENST00000368764	2/2	73	53	20	57	57	0	strelka-varscan-mutect	IVL,synonymous_variant,p.=,ENST00000368764,NM_005547.2;	T	ENST00000368764	Transcript	synonymous_variant	769/2153	705/1758	235/585	L	ctC/ctT		1		1	IVL	HGNC	HGNC:6187	protein_coding	YES	CCDS1030.1	ENSP00000357753	P07476		UPI000013E24A	NM_005547.2			2/2		Pfam_domain:PF00904,Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	3	152910502	152910502	C	T	1	0	0	0	0	0	0	0	1	7835	842	30	3		3	IVL	1	152910502	Silent	SNP	C	11LU022_TP	122974	152910502	96045920	36	708											
ATP8B2	0	.	GRCh38	chr1	154348487	154348487	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtctgcatcatgcccgtGgttgccttccgattcctcag	4	13	10	14	3	3	0	2	0	1	0	6	1	5	0	4	1	3	2	4	1	0	3	novel		11LU022_TP	11LU022_NB	G	G																c.3342G>A	p.=	p.V1114V	ENST00000368489	27/28	216	199	17	186	186	0	strelka-varscan-mutect	ATP8B2,synonymous_variant,p.=,ENST00000368489,NM_020452.3;ATP8B2,non_coding_transcript_exon_variant,,ENST00000505882,;	A	ENST00000368489	Transcript	synonymous_variant	3342/5861	3342/3672	1114/1223	V	gtG/gtA		1		1	ATP8B2	HGNC	HGNC:13534	protein_coding	YES	CCDS1066.1	ENSP00000357475	P98198		UPI00001B92AB	NM_020452.3			27/28		Superfamily_domains:0049473,Pfam_domain:PF16212,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF46,TIGRFAM_domain:TIGR01652,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	154348487	154348487	G	A	1	0	0	0	0	0	0	0	1	1348	1335	47	3		3	ATP8B2	1	154348487	Silent	SNP	G	11LU022_TP	1437985	154348487	94607935	37	709											
DCST2	0	.	GRCh38	chr1	155026684	155026684	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattcccagcgtagccagtAccttccacggttagagacac	11	9	8	13	2	0	1	0	0	0	1	2	2	2	1	4	1	3	3	4	1	4	6	novel		11LU022_TP	11LU022_NB	A	A																c.1374T>A	p.=	p.G458G	ENST00000368424	9/15	340	247	93	263	263	0	strelka-varscan-mutect	DCST2,synonymous_variant,p.=,ENST00000368424,NM_144622.2;DCST2,synonymous_variant,p.=,ENST00000485982,;DCST2,non_coding_transcript_exon_variant,,ENST00000368423,;DCST2,non_coding_transcript_exon_variant,,ENST00000498036,;DCST2,upstream_gene_variant,,ENST00000467991,;	T	ENST00000368424	Transcript	synonymous_variant	1433/2392	1374/2322	458/773	G	ggT/ggA		1		-1	DCST2	HGNC	HGNC:26562	protein_coding	YES	CCDS1082.2	ENSP00000357409	Q5T1A1		UPI0000D959B3	NM_144622.2			9/15		hmmpanther:PTHR21041:SF6,hmmpanther:PTHR21041,Pfam_domain:PF07782																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	155026684	155026684	A	T	1	0	0	0	0	0	0	0	1	4105	378	14	4		4	DCST2	1	155026684	Silent	SNP	A	11LU022_TP	678197	155026684	93929738	38	710											
TTC24	0	.	GRCh38	chr1	156581757	156581757	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcctaccatgccctcggCgagctgcctcaagctttggc	5	10	11	15	2	1	0	1	0	0	0	2	1	1	0	4	3	5	2	4	3	2	3	rs373435186		11LU022_TP	11LU022_NB	C	C																c.393C>A	p.=	p.G131G	ENST00000368236	2/11	444	299	145	356	355	1	strelka-varscan-mutect	TTC24,synonymous_variant,p.=,ENST00000368236,NM_001105669.2;TTC24,synonymous_variant,p.=,ENST00000368237,;TTC24,upstream_gene_variant,,ENST00000478081,;TTC24,upstream_gene_variant,,ENST00000413282,;TTC24,upstream_gene_variant,,ENST00000495690,;TTC24,upstream_gene_variant,,ENST00000462049,;	A	ENST00000368236	Transcript	synonymous_variant	429/2005	393/1749	131/582	G	ggC/ggA	rs373435186	1		1	TTC24	HGNC	HGNC:32348	protein_coding	YES	CCDS53379.1	ENSP00000357219	A2A3L6		UPI0000418EC1	NM_001105669.2			2/11		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF112,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452,Superfamily_domains:SSF48452																	LOW	1	SNV	5			1										PASS		rs373435186	.												A	2	1	3	156581757	156581757	C	A	1	0	0	0	0	0	0	0	1	17200	755	27	1		1	TTC24	1	156581757	Silent	SNP	C	11LU022_TP	1555073	156581757	92374665	39	711											
HAPLN2	0	.	GRCh38	chr1	156623958	156623958	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggagcctggggagctccgGgaaacgctgatcctcatcac	8	7	14	12	2	2	1	2	1	0	0	4	4	4	4	3	4	3	2	3	4	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.237G>T	p.=	p.R79R	ENST00000255039	4/7	116	92	24	98	97	1	strelka-varscan-mutect	HAPLN2,synonymous_variant,p.=,ENST00000255039,NM_021817.2;HAPLN2,synonymous_variant,p.=,ENST00000456112,;HAPLN2,upstream_gene_variant,,ENST00000494218,;HAPLN2,downstream_gene_variant,,ENST00000487988,;HAPLN2,downstream_gene_variant,,ENST00000482204,;	T	ENST00000255039	Transcript	synonymous_variant	644/1771	237/1023	79/340	R	cgG/cgT		1		1	HAPLN2	HGNC	HGNC:17410	protein_coding	YES	CCDS1148.1	ENSP00000255039	Q9GZV7		UPI00000012E0	NM_021817.2			4/7		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR22804,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs1484729971	.												T	2	4	3	156623958	156623958	G	T	1	0	0	0	0	0	0	0	1	6841	1219	43	2		2	HAPLN2	1	156623958	Silent	SNP	G	11LU022_TP	42201	156623958	92332464	40	712											
INSRR	0	.	GRCh38	chr1	156858544	156858544	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggactcaccctctacTgtatccaggccaaatcccaa	10	9	7	15	0	3	0	1	0	2	0	5	1	5	1	4	3	1	1	4	3	4	2	novel		11LU022_TP	11LU022_NB	T	T																c.78A>T	p.=	p.T26T	ENST00000368195	1/22	280	216	64	262	262	0	strelka-varscan-mutect	INSRR,synonymous_variant,p.=,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,upstream_gene_variant,,ENST00000368196,NM_001012331.1;NTRK1,upstream_gene_variant,,ENST00000358660,;NTRK1,upstream_gene_variant,,ENST00000524377,NM_002529.3;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,upstream_gene_variant,,ENST00000533630,;	A	ENST00000368195	Transcript	synonymous_variant	475/5101	78/3894	26/1297	T	acA/acT		1		-1	INSRR	HGNC	HGNC:6093	protein_coding	YES	CCDS1160.1	ENSP00000357178	P14616		UPI000012D8BD	NM_014215.2			1/22		hmmpanther:PTHR24416:SF338,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000620																	LOW		SNV	2			1										PASS		.	.												A	2	1	3	156858544	156858544	T	A	1	0	0	0	0	0	0	0	1	7676	1567	55	4		4	INSRR	1	156858544	Silent	SNP	T	11LU022_TP	234586	156858544	92097878	41	713											
NTRK1	0	.	GRCh38	chr1	156868219	156868219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagtgtcatgggcaagggCccctggcccacatgcccaat	8	7	12	14	0	1	0	1	0	0	0	1	0	1	0	4	3	2	2	4	3	2	0	rs755312547		11LU022_TP	11LU022_NB	C	C																c.544C>A	p.Pro182Thr	p.P182T	ENST00000524377	5/17	376	293	83	316	316	0	strelka-varscan-mutect	NTRK1,missense_variant,p.Pro182Thr,ENST00000368196,NM_001012331.1;NTRK1,missense_variant,p.Pro152Thr,ENST00000392302,NM_001007792.1;NTRK1,missense_variant,p.Pro182Thr,ENST00000358660,;NTRK1,missense_variant,p.Pro182Thr,ENST00000524377,NM_002529.3;NTRK1,intron_variant,,ENST00000489021,;NTRK1,missense_variant,p.Pro152Thr,ENST00000497019,;NTRK1,non_coding_transcript_exon_variant,,ENST00000530298,;NTRK1,downstream_gene_variant,,ENST00000533630,;	A	ENST00000524377	Transcript	missense_variant	585/2432	544/2391	182/796	P/T	Ccc/Acc	rs755312547	1		1	NTRK1	HGNC	HGNC:8031	protein_coding	YES	CCDS1161.1	ENSP00000431418	P04629		UPI000013D5D3	NM_002529.3	tolerated(0.19)		5/17		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF370,Gene3D:3.80.10.10,Pfam_domain:PF16920,SMART_domains:SM00082,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs755312547	.												A	3	1	3	156868219	156868219	C	A	1	0	0	0	0	1	0	0	0	10772	739	26	2		2	NTRK1	1	156868219	Missense_Mutation	SNP	C	11LU022_TP	9675	156868219	92088203	42	714											
FCRL5	0	.	GRCh38	chr1	157544390	157544390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaattcggggagagactcCagcctaatcccagggtctgg	10	7	14	10	1	1	1	0	0	1	1	4	4	3	3	3	5	1	0	3	5	2	2	rs756175836		11LU022_TP	11LU022_NB	C	C																c.716G>C	p.Trp239Ser	p.W239S	ENST00000361835	5/17	619	461	158	484	484	0	strelka-varscan-mutect	FCRL5,missense_variant,p.Trp239Ser,ENST00000361835,NM_001195388.1,NM_031281.2;FCRL5,missense_variant,p.Trp239Ser,ENST00000368189,;FCRL5,missense_variant,p.Trp239Ser,ENST00000368190,;FCRL5,non_coding_transcript_exon_variant,,ENST00000481082,;	G	ENST00000361835	Transcript	missense_variant	874/5390	716/2934	239/977	W/S	tGg/tCg	rs756175836	1		-1	FCRL5	HGNC	HGNC:18508	protein_coding	YES	CCDS1165.1	ENSP00000354691	Q96RD9		UPI0000458907	NM_001195388.1,NM_031281.2	tolerated(0.75)		5/17		PROSITE_profiles:PS50835,hmmpanther:PTHR11481:SF68,hmmpanther:PTHR11481,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs756175836	.												G	3	3	3	157544390	157544390	C	G	1	0	0	0	0	1	0	0	0	5660	595	21	4		4	FCRL5	1	157544390	Missense_Mutation	SNP	C	11LU022_TP	676171	157544390	91412032	43	715											
CD1A	0	.	GRCh38	chr1	158255082	158255082	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatctgttcttttgtcgcAgggctcaaggagcctctctc	5	15	9	12	1	5	0	1	0	4	0	8	1	5	1	1	2	1	3	1	2	2	4	rs763962809		11LU022_TP	11LU022_NB	A	A																c.59-2A>T		p.X20_splice	ENST00000289429		144	113	31	128	128	0	strelka-varscan-mutect	CD1A,splice_acceptor_variant,,ENST00000289429,NM_001763.2;	T	ENST00000289429	Transcript	splice_acceptor_variant	-/2096	59/984	20/327			rs763962809	1		1	CD1A	HGNC	HGNC:1634	protein_coding	YES	CCDS1174.1	ENSP00000289429	P06126		UPI0000161A54	NM_001763.2				1/5																		HIGH	1	SNV	1			1										PASS		rs763962809	.												T	5	4	3	158255082	158255082	A	T	1	0	0	0	0	0	0	1	0	2677	202	7	4		4	CD1A	1	158255082	Splice_Site	SNP	A	11LU022_TP	710692	158255082	90701340	44	716											
CD1E	0	.	GRCh38	chr1	158355957	158355957	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggggtgagcaggagcagcgGggcactcagcgaggggacgt	8	3	21	9	4	1	1	1	1	0	0	1	4	1	3	0	7	4	3	0	7	0	0	rs775039422		11LU022_TP	11LU022_NB	G	G																c.756G>T	p.=	p.R252R	ENST00000368167	4/6	235	148	87	128	128	0	strelka-varscan-mutect	CD1E,synonymous_variant,p.=,ENST00000444681,NM_001185114.1;CD1E,synonymous_variant,p.=,ENST00000368160,NM_001042583.2;CD1E,synonymous_variant,p.=,ENST00000368161,NM_001042584.2;CD1E,synonymous_variant,p.=,ENST00000368167,NM_030893.3;CD1E,synonymous_variant,p.=,ENST00000368166,NM_001042586.2;CD1E,synonymous_variant,p.=,ENST00000368165,NM_001185107.1;CD1E,synonymous_variant,p.=,ENST00000368162,;CD1E,synonymous_variant,p.=,ENST00000368164,NM_001042587.2;CD1E,synonymous_variant,p.=,ENST00000368156,NM_001185115.1;CD1E,synonymous_variant,p.=,ENST00000452291,NM_001185112.1;CD1E,intron_variant,,ENST00000368163,NM_001042585.2;CD1E,intron_variant,,ENST00000368155,NM_001185108.1;CD1E,intron_variant,,ENST00000368154,NM_001185113.1;CD1E,intron_variant,,ENST00000368157,NM_001185110.1;CD1E,downstream_gene_variant,,ENST00000464822,;	T	ENST00000368167	Transcript	synonymous_variant	995/1458	756/1167	252/388	R	cgG/cgT	rs775039422	1		1	CD1E	HGNC	HGNC:1638	protein_coding	YES	CCDS41417.1	ENSP00000357149	P15812		UPI000046F8C2	NM_030893.3			4/6		PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF146,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs775039422	.												T	2	4	3	158355957	158355957	G	T	1	0	0	0	0	0	0	0	1	2681	1219	43	2		2	CD1E	1	158355957	Silent	SNP	G	11LU022_TP	100875	158355957	90600465	45	717											
CD1E	0	.	GRCh38	chr1	158356813	158356813	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaccaagaattcaagaCatcagttctgcttggcacaa	15	8	8	10	0	3	2	2	0	1	2	3	3	3	3	1	2	1	3	1	2	4	3	novel		11LU022_TP	11LU022_NB	C	C																c.1084C>A	p.His362Asn	p.H362N	ENST00000368167	6/6	242	175	67	195	194	1	strelka-varscan-mutect	CD1E,missense_variant,p.His263Asn,ENST00000444681,NM_001185114.1;CD1E,missense_variant,p.His350Asn,ENST00000368160,NM_001042583.2;CD1E,missense_variant,p.His295Asn,ENST00000368163,NM_001042585.2;CD1E,missense_variant,p.His362Asn,ENST00000368167,NM_030893.3;CD1E,missense_variant,p.His161Asn,ENST00000368166,NM_001042586.2;CD1E,missense_variant,p.His272Asn,ENST00000368165,NM_001185107.1;CD1E,missense_variant,p.His260Asn,ENST00000368156,NM_001185115.1;CD1E,missense_variant,p.His173Asn,ENST00000452291,NM_001185112.1;CD1E,missense_variant,p.His205Asn,ENST00000368155,NM_001185108.1;CD1E,missense_variant,p.His118Asn,ENST00000368154,NM_001185113.1;CD1E,missense_variant,p.His106Asn,ENST00000368157,NM_001185110.1;CD1E,3_prime_UTR_variant,,ENST00000368161,NM_001042584.2;CD1E,3_prime_UTR_variant,,ENST00000368162,;CD1E,3_prime_UTR_variant,,ENST00000368164,NM_001042587.2;CD1E,downstream_gene_variant,,ENST00000464822,;	A	ENST00000368167	Transcript	missense_variant	1323/1458	1084/1167	362/388	H/N	Cat/Aat		1		1	CD1E	HGNC	HGNC:1638	protein_coding	YES	CCDS41417.1	ENSP00000357149	P15812		UPI000046F8C2	NM_030893.3	tolerated(0.16)		6/6																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	158356813	158356813	C	A	1	0	0	0	0	1	0	0	0	2681	478	17	2		2	CD1E	1	158356813	Missense_Mutation	SNP	C	11LU022_TP	856	158356813	90599609	46	718											
SPTA1	0	.	GRCh38	chr1	158645365	158645365	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggtgggagcctctgcCtccatgtcagcacggtgctc	6	9	14	12	1	2	0	1	0	1	0	4	2	3	2	3	4	4	2	3	4	1	0			11LU022_TP	11LU022_NB	C	C																c.4017G>A	p.=	p.E1339E	ENST00000368147	29/52	269	178	91	235	234	1	strelka-varscan-mutect	SPTA1,synonymous_variant,p.=,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000465741,;	T	ENST00000368147	Transcript	synonymous_variant	4198/7999	4017/7260	1339/2419	E	gaG/gaA	COSM3476222,COSM676104	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2			29/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	3	158645365	158645365	C	T	1	0	0	0	0	0	0	0	1	15472	680	24	3		3	SPTA1	1	158645365	Silent	SNP	C	11LU022_TP	288552	158645365	90311057	47	719											
NCSTN	0	.	GRCh38	chr1	160357066	160357066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagtactcatgggtccaggGccctttgcattctaatgaga	9	12	11	9	0	2	2	1	2	1	1	3	3	3	2	2	2	2	2	2	2	2	4	novel		11LU022_TP	11LU022_NB	G	G																c.1820G>T	p.Gly607Val	p.G607V	ENST00000294785	16/17	604	409	195	459	458	1	strelka-varscan-mutect	NCSTN,missense_variant,p.Gly587Val,ENST00000368063,NM_001290184.1;NCSTN,missense_variant,p.Gly607Val,ENST00000294785,NM_001290186.1,NM_015331.2;NCSTN,downstream_gene_variant,,ENST00000424645,;NCSTN,downstream_gene_variant,,ENST00000435149,;NCSTN,downstream_gene_variant,,ENST00000421914,;NCSTN,downstream_gene_variant,,ENST00000424754,;NCSTN,non_coding_transcript_exon_variant,,ENST00000469159,;NCSTN,downstream_gene_variant,,ENST00000459963,;NCSTN,downstream_gene_variant,,ENST00000491390,;	T	ENST00000294785	Transcript	missense_variant	1945/2936	1820/2130	607/709	G/V	gGc/gTc		1		1	NCSTN	HGNC	HGNC:17091	protein_coding	YES	CCDS1203.1	ENSP00000294785	Q92542		UPI0000042050	NM_001290186.1,NM_015331.2	deleterious(0)		16/17		hmmpanther:PTHR21092:SF0,hmmpanther:PTHR21092																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	160357066	160357066	G	T	1	0	0	0	0	1	0	0	0	10261	1203	42	2		2	NCSTN	1	160357066	Missense_Mutation	SNP	G	11LU022_TP	1711701	160357066	88599356	48	720											
SLAMF1	0	.	GRCh38	chr1	160619843	160619843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgtctggtaatggttcGttttacctggtgaaaagaaa	10	15	11	5	1	1	2	0	1	1	1	2	2	1	2	1	3	1	4	1	3	5	5	novel		11LU022_TP	11LU022_NB	G	G																c.797C>T	p.Thr266Met	p.T266M	ENST00000302035	5/7	260	205	55	202	202	0	strelka-varscan-mutect	SLAMF1,stop_gained,p.Arg294Ter,ENST00000538290,;SLAMF1,missense_variant,p.Thr266Met,ENST00000302035,NM_003037.3;SLAMF1,intron_variant,,ENST00000235739,;	A	ENST00000302035	Transcript	missense_variant	1147/4006	797/1008	266/335	T/M	aCg/aTg		1		-1	SLAMF1	HGNC	HGNC:10903	protein_coding	YES	CCDS1207.1	ENSP00000306190	Q13291		UPI0000047630	NM_003037.3	deleterious(0.03)		5/7		hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF49																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	160619843	160619843	G	A	1	0	0	0	0	1	0	0	0	14632	1145	40	1		1	SLAMF1	1	160619843	Missense_Mutation	SNP	G	11LU022_TP	262777	160619843	88336579	49	721											
ITLN1	0	.	GRCh38	chr1	160881274	160881274	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattgggcacgtgccagatGcccaggtccttggcctggat	6	11	13	11	1	0	1	0	0	0	1	1	2	1	2	4	4	2	1	4	4	1	3	novel		11LU022_TP	11LU022_NB	G	G																c.444C>T	p.=	p.G148G	ENST00000326245	5/8	77	44	33	42	42	0	strelka-varscan-mutect	ITLN1,synonymous_variant,p.=,ENST00000326245,NM_017625.2;ITLN1,non_coding_transcript_exon_variant,,ENST00000487531,;ITLN1,non_coding_transcript_exon_variant,,ENST00000464077,;	A	ENST00000326245	Transcript	synonymous_variant	560/1183	444/942	148/313	G	ggC/ggT		1		-1	ITLN1	HGNC	HGNC:18259	protein_coding	YES	CCDS1211.1	ENSP00000323587	Q8WWA0		UPI0000032AA3	NM_017625.2			5/8		hmmpanther:PTHR16146,hmmpanther:PTHR16146:SF38,Superfamily_domains:SSF56496																	LOW	1	SNV	1			1										PASS		rs781141336	.												A	2	1	3	160881274	160881274	G	A	1	0	0	0	0	0	0	0	1	7816	1306	46	3		3	ITLN1	1	160881274	Silent	SNP	G	11LU022_TP	261431	160881274	88075148	50	722											
NECTIN4	0	.	GRCh38	chr1	161072685	161072685	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggtgtccccgcccattGatgtagatgccattgcccgt	7	10	10	14	2	0	2	0	1	0	1	1	2	1	2	6	1	2	1	6	1	1	3	novel		11LU022_TP	11LU022_NB	G	G																c.1509C>A	p.=	p.I503I	ENST00000368012	9/9	544	359	185	445	445	0	strelka-varscan-mutect	NECTIN4,synonymous_variant,p.=,ENST00000368012,NM_030916.2;ARHGAP30,upstream_gene_variant,,ENST00000368013,NM_001287600.1,NM_001025598.1;ARHGAP30,upstream_gene_variant,,ENST00000368015,NM_001287602.1;ARHGAP30,upstream_gene_variant,,ENST00000368016,NM_181720.2;NECTIN4,non_coding_transcript_exon_variant,,ENST00000486694,;ARHGAP30,upstream_gene_variant,,ENST00000461003,;ARHGAP30,upstream_gene_variant,,ENST00000490279,;ARHGAP30,upstream_gene_variant,,ENST00000368018,;ARHGAP30,upstream_gene_variant,,ENST00000471492,;	T	ENST00000368012	Transcript	synonymous_variant	1812/3502	1509/1533	503/510	I	atC/atA		1		-1	NECTIN4	HGNC	HGNC:19688	protein_coding	YES	CCDS1216.1	ENSP00000356991	Q96NY8	K4PZ75	UPI000006F072	NM_030916.2			9/9		hmmpanther:PTHR23277:SF11,hmmpanther:PTHR23277																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	161072685	161072685	G	T	1	0	0	0	0	0	0	0	1	10336	1280	45	2		2	NECTIN4	1	161072685	Silent	SNP	G	11LU022_TP	191411	161072685	87883737	51	723											
DDR2	0	.	GRCh38	chr1	162775687	162775687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagataaagatcatgtctcGgctcaaggacccaaacatca	15	7	9	10	1	4	2	3	0	1	2	5	4	4	3	1	3	1	1	1	3	4	1	rs779963287		11LU022_TP	11LU022_NB	G	G																c.1892G>T	p.Arg631Leu	p.R631L	ENST00000367922	16/19	452	330	122	343	343	0	strelka-varscan-mutect	DDR2,missense_variant,p.Arg631Leu,ENST00000367922,NM_001014796.1;DDR2,missense_variant,p.Arg631Leu,ENST00000367921,NM_006182.2;DDR2,downstream_gene_variant,,ENST00000433757,;DDR2,downstream_gene_variant,,ENST00000458105,;RN7SL861P,upstream_gene_variant,,ENST00000473793,;	T	ENST00000367922	Transcript	missense_variant	2330/10160	1892/2568	631/855	R/L	cGg/cTg	rs779963287,COSM1335765,COSM1335766	1		1	DDR2	HGNC	HGNC:2731	protein_coding	YES	CCDS1241.1	ENSP00000356899	Q16832	A0A024R906	UPI000013E1B4	NM_001014796.1	deleterious(0)		16/19		Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF295,SMART_domains:SM00219,Superfamily_domains:SSF56112											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs779963287	.												T	3	4	3	162775687	162775687	G	T	1	0	0	0	0	1	0	0	0	4141	1116	39	1		1	DDR2	1	162775687	Missense_Mutation	SNP	G	11LU022_TP	1703002	162775687	86180735	52	724											
LMX1A	0	.	GRCh38	chr1	165249425	165249425	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctgagtctgaggctgctGggctcaccaggctgagcagc	7	7	14	13	0	2	3	1	3	1	0	2	3	2	3	2	3	3	5	2	3	0	0	novel		11LU022_TP	11LU022_NB	G	G																c.479C>G	p.Pro160Arg	p.P160R	ENST00000342310	4/9	180	157	23	171	171	0	strelka-varscan-mutect	LMX1A,missense_variant,p.Pro160Arg,ENST00000342310,NM_177398.3;LMX1A,missense_variant,p.Pro160Arg,ENST00000294816,NM_001174069.1;LMX1A,missense_variant,p.Pro160Arg,ENST00000367893,;	C	ENST00000342310	Transcript	missense_variant	862/3545	479/1149	160/382	P/R	cCa/cGa		1		-1	LMX1A	HGNC	HGNC:6653	protein_coding	YES	CCDS1247.1	ENSP00000340226	Q8TE12		UPI000012E793	NM_177398.3	deleterious(0.01)		4/9		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF88																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	3	165249425	165249425	G	C	1	0	0	0	0	1	0	0	0	8788	1348	47	4		4	LMX1A	1	165249425	Missense_Mutation	SNP	G	11LU022_TP	2473738	165249425	83706997	53	725											
LRRC52	0	.	GRCh38	chr1	165563747	165563747	+	Frame_Shift_Del	DEL	G	G	-																															aagaagatgaggacgaggccGggactagggtggaagtcagc																								rs150359687		11LU022_TP	11LU022_NB	G	G																c.867delG	p.Thr290LeufsTer60	p.T290Lfs*60	ENST00000294818	2/2	327	218	109	317	317	0	sindel-varindel-pindel	LRRC52,frameshift_variant,p.Thr290LeufsTer60,ENST00000294818,NM_001005214.3;RP11-280O1.2,intron_variant,,ENST00000438275,;RP11-280O1.2,intron_variant,,ENST00000421273,;RP11-280O1.2,intron_variant,,ENST00000416424,;	-	ENST00000294818	Transcript	frameshift_variant	1155/1369	865/942	289/313	G/X	Ggg/gg	rs150359687,COSM4024732	1		1	LRRC52	HGNC	HGNC:32156	protein_coding	YES	CCDS30930.1	ENSP00000294818	Q8N7C0		UPI000013E1BE	NM_001005214.3			2/2													0,1						HIGH	1	deletion	1	2	0,1	1										PASS		.	.												-	7	5	3	165563747	165563747	G	-	1	0	1	0	1	0	0	0	0	8904	1116	39	0		0	LRRC52	1	165563747	Frame_Shift_Del	DEL	G	11LU022_TP	314322	165563747	83392675	54	726											
ILDR2	0	.	GRCh38	chr1	166922719	166922719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccaagtccccagacacaGggaactgcttgcttctcatc	9	10	7	15	0	2	1	1	0	2	1	6	2	3	2	3	1	3	2	3	1	2	2	rs765518152		11LU022_TP	11LU022_NB	G	G																c.1085C>T	p.Pro362Leu	p.P362L	ENST00000271417	8/10	627	532	95	464	463	1	strelka-varscan-mutect	ILDR2,missense_variant,p.Pro362Leu,ENST00000271417,NM_199351.2;ILDR2,missense_variant,p.Pro343Leu,ENST00000529071,;ILDR2,missense_variant,p.Pro303Leu,ENST00000528703,;ILDR2,missense_variant,p.Pro254Leu,ENST00000526687,;ILDR2,missense_variant,p.Pro235Leu,ENST00000525740,;ILDR2,missense_variant,p.Pro362Leu,ENST00000469934,;ILDR2,intron_variant,,ENST00000529387,;ILDR2,upstream_gene_variant,,ENST00000614979,;	A	ENST00000271417	Transcript	missense_variant	1141/13140	1085/1920	362/639	P/L	cCt/cTt	rs765518152	1		-1	ILDR2	HGNC	HGNC:18131	protein_coding	YES	CCDS1256.1	ENSP00000271417	Q71H61		UPI00002317DF	NM_199351.2	deleterious(0)		8/10		hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0																	MODERATE	1	SNV	1			1										PASS		rs765518152	.												A	3	1	3	166922719	166922719	G	A	1	0	0	0	0	1	0	0	0	7613	1000	35	3		3	ILDR2	1	166922719	Missense_Mutation	SNP	G	11LU022_TP	1358972	166922719	82033703	55	727											
MPC2	0	.	GRCh38	chr1	167935814	167935814	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccggtggtaggtggcccGcaggcctcgggcaccggcgg	4	4	20	13	5	0	0	0	0	0	0	1	1	0	0	4	8	1	3	4	8	1	1	novel		11LU022_TP	11LU022_NB	G	G																c.28C>G	p.Arg10Gly	p.R10G	ENST00000367846	1/5	189	177	12	158	158	0	strelka-varscan-mutect	MPC2,missense_variant,p.Arg10Gly,ENST00000367846,NM_015415.3;MPC2,missense_variant,p.Arg10Gly,ENST00000271373,NM_001143674.3;MPC2,missense_variant,p.Arg10Gly,ENST00000458574,;DCAF6,upstream_gene_variant,,ENST00000432587,NM_001198957.1;DCAF6,upstream_gene_variant,,ENST00000367840,NM_001198956.1;DCAF6,upstream_gene_variant,,ENST00000367843,NM_018442.3;DCAF6,upstream_gene_variant,,ENST00000312263,NM_001017977.2;DCAF6,non_coding_transcript_exon_variant,,ENST00000450548,;DCAF6,upstream_gene_variant,,ENST00000470919,;DCAF6,upstream_gene_variant,,ENST00000455334,;DCAF6,upstream_gene_variant,,ENST00000470721,;	C	ENST00000367846	Transcript	missense_variant	227/2177	28/384	10/127	R/G	Cgg/Ggg		1		-1	MPC2	HGNC	HGNC:24515	protein_coding	YES	CCDS1266.1	ENSP00000356820	O95563	A0A024R8Z5	UPI0000044E0B	NM_015415.3	deleterious(0.04)		1/5		hmmpanther:PTHR14154,hmmpanther:PTHR14154:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	167935814	167935814	G	C	1	0	0	0	0	1	0	0	0	9685	1086	38	4		4	MPC2	1	167935814	Missense_Mutation	SNP	G	11LU022_TP	1013095	167935814	81020608	56	728											
TNR	0	.	GRCh38	chr1	175386121	175386121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcgggagccaggccgcaggGcctgcactgagtattggctc	7	7	15	12	2	0	1	0	1	0	0	2	2	0	2	3	4	2	4	3	4	1	2	novel		11LU022_TP	11LU022_NB	G	G																c.1688C>A	p.Ala563Asp	p.A563D	ENST00000367674	8/23	177	156	21	148	148	0	strelka-varscan-mutect	TNR,missense_variant,p.Ala563Asp,ENST00000367674,;TNR,missense_variant,p.Ala563Asp,ENST00000263525,NM_003285.2;	T	ENST00000367674	Transcript	missense_variant	2397/12949	1688/4077	563/1358	A/D	gCc/gAc		1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C		tolerated(0.66)		8/23		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	175386121	175386121	G	T	1	0	0	0	0	1	0	0	0	16811	1203	42	2		2	TNR	1	175386121	Missense_Mutation	SNP	G	11LU022_TP	7450307	175386121	73570301	57	729											
RFWD2	0	.	GRCh38	chr1	176081282	176081282	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactggcttgcagttcgacTgtcatctatatgaaaaaaaa	15	11	7	8	1	2	1	1	1	1	0	3	2	2	1	0	1	2	3	0	1	7	4			11LU022_TP	11LU022_NB	T	T																c.1147A>T	p.Ser383Cys	p.S383C	ENST00000367669	11/20	81	61	20	79	79	0	strelka-varscan-mutect	RFWD2,missense_variant,p.Ser383Cys,ENST00000367669,NM_022457.6,NM_001286644.1;RFWD2,missense_variant,p.Ser359Cys,ENST00000308769,NM_001001740.3;RFWD2,missense_variant,p.Ser218Cys,ENST00000367666,;RFWD2,missense_variant,p.Ser103Cys,ENST00000459744,;RFWD2,downstream_gene_variant,,ENST00000498306,;RFWD2,3_prime_UTR_variant,,ENST00000367667,;RFWD2,upstream_gene_variant,,ENST00000461830,;	A	ENST00000367669	Transcript	missense_variant	1662/3033	1147/2196	383/731	S/C	Agt/Tgt	COSM1295522	1		-1	RFWD2	HGNC	HGNC:17440	protein_coding	YES	CCDS30944.1	ENSP00000356641	Q8NHY2		UPI0000061E51	NM_022457.6,NM_001286644.1	tolerated(0.05)		11/20		hmmpanther:PTHR22847:SF451,hmmpanther:PTHR22847											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	3	176081282	176081282	T	A	1	0	0	0	0	1	0	0	0	13434	1594	55	4		4	RFWD2	1	176081282	Missense_Mutation	SNP	T	11LU022_TP	695161	176081282	72875140	58	730											
RFWD2	0	.	GRCh38	chr1	176085821	176085821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaacactgctccaagtCttcaaaatgagcagtaagtc	16	9	7	9	0	2	1	1	1	1	0	4	1	3	1	1	0	3	4	1	0	6	3	novel		11LU022_TP	11LU022_NB	C	C																c.1096G>T	p.Asp366Tyr	p.D366Y	ENST00000367669	10/20	133	89	44	140	140	0	strelka-varscan-mutect	RFWD2,missense_variant,p.Asp366Tyr,ENST00000367669,NM_022457.6,NM_001286644.1;RFWD2,missense_variant,p.Asp342Tyr,ENST00000308769,NM_001001740.3;RFWD2,missense_variant,p.Asp201Tyr,ENST00000367666,;RFWD2,missense_variant,p.Asp86Tyr,ENST00000459744,;RFWD2,downstream_gene_variant,,ENST00000498306,;RFWD2,3_prime_UTR_variant,,ENST00000367667,;RFWD2,upstream_gene_variant,,ENST00000461830,;	A	ENST00000367669	Transcript	missense_variant	1611/3033	1096/2196	366/731	D/Y	Gac/Tac		1		-1	RFWD2	HGNC	HGNC:17440	protein_coding	YES	CCDS30944.1	ENSP00000356641	Q8NHY2		UPI0000061E51	NM_022457.6,NM_001286644.1	deleterious(0)		10/20		hmmpanther:PTHR22847:SF451,hmmpanther:PTHR22847																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	176085821	176085821	C	A	1	0	0	0	0	1	0	0	0	13434	913	32	2		2	RFWD2	1	176085821	Missense_Mutation	SNP	C	11LU022_TP	4539	176085821	72870601	59	731											
PAPPA2	0	.	GRCh38	chr1	176595136	176595136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgacaatgtggaattgatctCccagtacaatggatactggc	12	11	10	8	0	1	2	0	2	1	0	2	4	1	4	1	3	2	1	1	3	5	3			11LU022_TP	11LU022_NB	C	C																c.1532C>T	p.Ser511Phe	p.S511F	ENST00000367662	3/23	355	242	113	371	371	0	strelka-varscan-mutect	PAPPA2,missense_variant,p.Ser511Phe,ENST00000367662,NM_020318.2;PAPPA2,missense_variant,p.Ser511Phe,ENST00000367661,NM_021936.2;	T	ENST00000367662	Transcript	missense_variant	2696/9691	1532/5376	511/1791	S/F	tCc/tTc	COSM390712,COSM390713,COSM4900732,COSM4900733	1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2	tolerated(0.24)		3/23													1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												T	3	4	3	176595136	176595136	C	T	1	0	0	0	0	1	0	0	0	11513	855	30	3		3	PAPPA2	1	176595136	Missense_Mutation	SNP	C	11LU022_TP	509315	176595136	72361286	60	732											
PAPPA2	0	.	GRCh38	chr1	176771154	176771154	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccagggtactatgtggcAgaaagtgcagagggtaaagt	15	7	14	5	0	0	2	0	0	0	2	0	2	0	2	1	3	3	4	1	3	6	3	novel		11LU022_TP	11LU022_NB	A	A																c.4689A>C	p.=	p.A1563A	ENST00000367662	17/23	278	177	101	257	257	0	strelka-varscan-mutect	PAPPA2,synonymous_variant,p.=,ENST00000367662,NM_020318.2;	C	ENST00000367662	Transcript	synonymous_variant	5853/9691	4689/5376	1563/1791	A	gcA/gcC		1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2			17/23		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF1,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	3	176771154	176771154	A	C	1	0	0	0	0	0	0	0	1	11513	175	7	5		5	PAPPA2	1	176771154	Silent	SNP	A	11LU022_TP	176018	176771154	72185268	61	733											
ASTN1	0	.	GRCh38	chr1	176888081	176888081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaccatacacaggctgtgGgagaggcgcacaggtgggga	12	4	17	8	1	0	2	0	0	0	2	0	4	0	3	1	6	2	2	1	6	2	1	novel		11LU022_TP	11LU022_NB	G	G																c.3064C>A	p.Pro1022Thr	p.P1022T	ENST00000361833	18/23	189	127	62	168	168	0	strelka-varscan-mutect	ASTN1,missense_variant,p.Pro1022Thr,ENST00000361833,NM_004319.2;ASTN1,missense_variant,p.Pro1022Thr,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Pro1022Thr,ENST00000424564,NM_207108.2;	T	ENST00000361833	Transcript	missense_variant	3078/7116	3064/3885	1022/1294	P/T	Cca/Aca		1		-1	ASTN1	HGNC	HGNC:773	protein_coding	YES	CCDS1319.1	ENSP00000354536	O14525		UPI0000160388	NM_004319.2	deleterious(0.01)		18/23		hmmpanther:PTHR16592:SF8,hmmpanther:PTHR16592,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	176888081	176888081	G	T	1	0	0	0	0	1	0	0	0	1211	1232	43	2		2	ASTN1	1	176888081	Missense_Mutation	SNP	G	11LU022_TP	116927	176888081	72068341	62	734											
SEC16B	0	.	GRCh38	chr1	177958892	177958892	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagtagagctgagtctCtgctccccagtgtctcagat	8	10	10	13	0	2	3	1	1	2	2	5	3	3	3	3	0	2	3	3	0	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.1082G>T	p.Arg361Ile	p.R361I	ENST00000308284	9/26	209	129	80	172	172	0	strelka-varscan-mutect	SEC16B,missense_variant,p.Arg361Ile,ENST00000308284,NM_033127.2;SEC16B,missense_variant,p.Arg362Ile,ENST00000464631,;SEC16B,missense_variant,p.Arg5Ile,ENST00000527976,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000354921,;SEC16B,3_prime_UTR_variant,,ENST00000528461,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000466953,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000464428,;SEC16B,upstream_gene_variant,,ENST00000526773,;	A	ENST00000308284	Transcript	missense_variant	1172/3985	1082/3183	361/1060	R/I	aGa/aTa		1		-1	SEC16B	HGNC	HGNC:30301	protein_coding	YES	CCDS44281.1	ENSP00000308339	Q96JE7		UPI0000203C4D	NM_033127.2	deleterious(0)		9/26		hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF11,Pfam_domain:PF12932																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	177958892	177958892	C	A	1	0	0	0	0	1	0	0	0	14264	913	32	2		2	SEC16B	1	177958892	Missense_Mutation	SNP	C	11LU022_TP	1070811	177958892	70997530	63	735											
NPHS2	0	.	GRCh38	chr1	179551314	179551314	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggcaaaggtaaaaccacAgtggaaggcttctctgtgga	14	8	12	7	0	1	0	0	0	1	0	2	2	1	2	1	5	1	3	1	5	5	2	rs781246634		11LU022_TP	11LU022_NB	A	A																c.1011T>A	p.=	p.T337T	ENST00000367615	8/8	364	309	55	316	316	0	strelka-varscan-mutect	NPHS2,synonymous_variant,p.=,ENST00000367615,NM_014625.3;NPHS2,synonymous_variant,p.=,ENST00000367616,NM_001297575.1;AXDND1,intron_variant,,ENST00000367618,NM_144696.5;AXDND1,intron_variant,,ENST00000617277,;AXDND1,intron_variant,,ENST00000434088,;RP11-545A16.1,upstream_gene_variant,,ENST00000569644,;AXDND1,non_coding_transcript_exon_variant,,ENST00000489080,;AXDND1,intron_variant,,ENST00000484883,;AXDND1,intron_variant,,ENST00000484455,;AXDND1,intron_variant,,ENST00000511157,;	T	ENST00000367615	Transcript	synonymous_variant	1080/1855	1011/1152	337/383	T	acT/acA	rs781246634	1		-1	NPHS2	HGNC	HGNC:13394	protein_coding	YES	CCDS1331.1	ENSP00000356587	Q9NP85		UPI000003F549	NM_014625.3			8/8		hmmpanther:PTHR10264:SF23,hmmpanther:PTHR10264																	LOW	1	SNV	1			1										PASS		rs781246634	.												T	2	4	3	179551314	179551314	A	T	1	0	0	0	0	0	0	0	1	10631	175	7	4		4	NPHS2	1	179551314	Silent	SNP	A	11LU022_TP	1592422	179551314	69405108	64	736											
CACNA1E	0	.	GRCh38	chr1	181798429	181798429	+	Frame_Shift_Del	DEL	G	G	-																															agctccctgattcgacacgcGggcagcatctctccacctgc																								rs375338599		11LU022_TP	11LU022_NB	G	G																c.6539delG	p.Gly2180AlafsTer16	p.G2180Afs*16	ENST00000367573	48/48	253	217	36	239	239	0	sindel-varindel-pindel	CACNA1E,frameshift_variant,p.Gly2118AlafsTer16,ENST00000621791,NM_001205294.1;CACNA1E,frameshift_variant,p.Gly2180AlafsTer16,ENST00000621551,;CACNA1E,frameshift_variant,p.Gly2137AlafsTer16,ENST00000367567,;CACNA1E,frameshift_variant,p.Gly2118AlafsTer16,ENST00000358338,;CACNA1E,frameshift_variant,p.Gly2137AlafsTer16,ENST00000367570,NM_000721.3;CACNA1E,frameshift_variant,p.Gly2180AlafsTer16,ENST00000367573,NM_001205293.1;CACNA1E,frameshift_variant,p.Gly2179AlafsTer16,ENST00000357570,;CACNA1E,frameshift_variant,p.Gly2161AlafsTer16,ENST00000360108,;	-	ENST00000367573	Transcript	frameshift_variant	6537/7067	6537/6942	2179/2313	A/X	gcG/gc	rs375338599,COSM3671541,COSM3671542,COSM3671543,COSM414272	1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1			48/48													0,1,1,1,1						HIGH	1	deletion	1	2	0,1,1,1,1	1										PASS		.	.												-	7	5	3	181798429	181798429	G	-	1	0	1	0	1	0	0	0	0	2230	1103	39	0		0	CACNA1E	1	181798429	Frame_Shift_Del	DEL	G	11LU022_TP	2247115	181798429	67157993	65	737											
LAMC2	0	.	GRCh38	chr1	183220917	183220917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagccagctgccgcagctCtgcagaatacagtgtccata	10	9	9	13	1	2	1	1	0	1	1	3	1	3	1	3	0	6	4	3	0	3	3	novel		11LU022_TP	11LU022_NB	C	C																c.596C>T	p.Ser199Phe	p.S199F	ENST00000264144	5/23	393	370	23	341	341	0	strelka-varscan-mutect	LAMC2,missense_variant,p.Ser199Phe,ENST00000264144,NM_005562.2;LAMC2,missense_variant,p.Ser199Phe,ENST00000493293,NM_018891.2;	T	ENST00000264144	Transcript	missense_variant	661/5147	596/3582	199/1193	S/F	tCt/tTt		1		1	LAMC2	HGNC	HGNC:6493	protein_coding	YES	CCDS1352.1	ENSP00000264144	Q13753		UPI000013D4CA	NM_005562.2	deleterious(0)		5/23		hmmpanther:PTHR10574:SF270,hmmpanther:PTHR10574																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	183220917	183220917	C	T	1	0	0	0	0	1	0	0	0	8519	913	32	3		3	LAMC2	1	183220917	Missense_Mutation	SNP	C	11LU022_TP	1422488	183220917	65735505	66	738											
CDC73	0	.	GRCh38	chr1	193147882	193147882	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagaatttttccaagaacAtttttgcaattcttcaatct	12	19	3	7	0	3	2	1	0	2	2	4	2	4	2	1	0	2	1	1	0	6	8	novel		11LU022_TP	11LU022_NB	A	A																c.745A>T	p.Ile249Phe	p.I249F	ENST00000367435	8/17	397	341	56	324	324	0	strelka-varscan-mutect	CDC73,missense_variant,p.Ile249Phe,ENST00000367435,NM_024529.4;CDC73,intron_variant,,ENST00000635846,;	T	ENST00000367435	Transcript	missense_variant	929/4969	745/1596	249/531	I/F	Att/Ttt		1		1	CDC73	HGNC	HGNC:16783	protein_coding	YES	CCDS1382.1	ENSP00000356405	Q6P1J9		UPI0000021592	NM_024529.4	deleterious(0)		8/17		Pfam_domain:PF16050,hmmpanther:PTHR12466,hmmpanther:PTHR12466:SF8																	MODERATE	1	SNV	1			1										PASS		rs1250821112	.												T	3	4	3	193147882	193147882	A	T	1	0	0	0	0	1	0	0	0	2788	217	8	4		4	CDC73	1	193147882	Missense_Mutation	SNP	A	11LU022_TP	9926965	193147882	55808540	67	739											
CFHR4	0	.	GRCh38	chr1	196907418	196907418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagagtcgagtaccagtGccagtcctactatgaacttc	11	10	9	11	1	1	2	1	1	0	1	4	3	2	2	3	0	4	1	3	0	5	4	novel		11LU022_TP	11LU022_NB	G	G																c.716G>T	p.Cys239Phe	p.C239F	ENST00000367416	5/10	423	400	23	314	313	1	strelka-varscan-mutect	CFHR4,missense_variant,p.Cys239Phe,ENST00000367416,NM_001201551.1,NM_001201550.2;CFHR4,intron_variant,,ENST00000608469,;CFHR4,intron_variant,,ENST00000251424,NM_006684.4;CFHR4,intron_variant,,ENST00000367418,;RP4-608O15.3,intron_variant,,ENST00000367421,;	T	ENST00000367416	Transcript	missense_variant	853/2178	716/1734	239/577	C/F	tGc/tTc		1		1	CFHR4	HGNC	HGNC:16979	protein_coding	YES	CCDS55671.1	ENSP00000356386	Q92496		UPI0001F6C576	NM_001201551.1,NM_001201550.2	deleterious(0)		5/10		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF366,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE		SNV	2			1										PASS		rs1161123780	.												T	3	4	3	196907418	196907418	G	T	1	0	0	0	0	1	0	0	0	3045	1319	46	2		2	CFHR4	1	196907418	Missense_Mutation	SNP	G	11LU022_TP	3759536	196907418	52049004	68	740											
ASPM	0	.	GRCh38	chr1	197102859	197102859	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggtaacttattcttgacTgatgcattttaaacatggct	11	17	7	6	0	1	2	0	2	1	0	1	2	1	2	0	2	3	3	0	2	5	7	novel		11LU022_TP	11LU022_NB	T	T																c.6392A>T	p.Gln2131Leu	p.Q2131L	ENST00000367409	18/28	306	261	45	249	249	0	strelka-varscan-mutect	ASPM,missense_variant,p.Gln2131Leu,ENST00000367409,NM_018136.4;ASPM,intron_variant,,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000612785,;ASPM,intron_variant,,ENST00000367408,;	A	ENST00000367409	Transcript	missense_variant	6649/10887	6392/10434	2131/3477	Q/L	cAg/cTg		1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4	tolerated(0.2)		18/28		PROSITE_profiles:PS50096,SMART_domains:SM00015,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	197102859	197102859	T	A	1	0	0	0	0	1	0	0	0	1203	1580	55	4		4	ASPM	1	197102859	Missense_Mutation	SNP	T	11LU022_TP	195441	197102859	51853563	69	741											
ASPM	0	.	GRCh38	chr1	197124109	197124109	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaaaaaacaaagaaacttaCctttttattatagaaggcac	20	10	4	7	0	0	2	0	0	0	2	0	2	0	2	1	1	3	1	1	1	10	6	novel		11LU022_TP	11LU022_NB	C	C																c.3390+1G>T		p.X1130_splice	ENST00000367409		190	163	27	201	200	1	strelka-varscan-mutect	ASPM,splice_donor_variant,,ENST00000367409,NM_018136.4;ASPM,splice_donor_variant,,ENST00000294732,NM_001206846.1;ASPM,splice_donor_variant,,ENST00000367408,;ASPM,intron_variant,,ENST00000612785,;	A	ENST00000367409	Transcript	splice_donor_variant	-/10887	3390/10434	1130/3477				1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4				13/27																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	3	197124109	197124109	C	A	1	0	0	0	0	0	0	1	0	1203	521	18	2		2	ASPM	1	197124109	Splice_Site	SNP	C	11LU022_TP	21250	197124109	51832313	70	742											
CRB1	0	.	GRCh38	chr1	197421438	197421438	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttgtgaagctggagcTgctaagtggctacattcact	8	14	12	7	0	1	1	1	1	0	0	1	2	1	2	0	2	4	5	0	2	3	4	novel		11LU022_TP	11LU022_NB	T	T																c.1610T>A	p.Leu537Gln	p.L537Q	ENST00000367400	6/12	391	337	54	270	270	0	strelka-varscan-mutect	CRB1,missense_variant,p.Leu468Gln,ENST00000535699,NM_001257965.1;CRB1,missense_variant,p.Leu537Gln,ENST00000367400,NM_201253.2;CRB1,missense_variant,p.Leu425Gln,ENST00000367399,NM_001193640.1;CRB1,missense_variant,p.Leu537Gln,ENST00000538660,NM_001257966.1;CRB1,5_prime_UTR_variant,,ENST00000367397,;CRB1,non_coding_transcript_exon_variant,,ENST00000476483,;CRB1,upstream_gene_variant,,ENST00000480086,;CRB1,missense_variant,p.Leu537Gln,ENST00000484075,;	A	ENST00000367400	Transcript	missense_variant	1745/4932	1610/4221	537/1406	L/Q	cTg/cAg		1		1	CRB1	HGNC	HGNC:2343	protein_coding	YES	CCDS1390.1	ENSP00000356370	P82279		UPI0000073345	NM_201253.2	deleterious(0)		6/12		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR24049,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	197421438	197421438	T	A	1	0	0	0	0	1	0	0	0	3648	1580	55	4		4	CRB1	1	197421438	Missense_Mutation	SNP	T	11LU022_TP	297329	197421438	51534984	71	743											
CACNA1S	0	.	GRCh38	chr1	201077082	201077082	+	Silent	SNP	G	G	T																															agggaggcgatggagcggatGgagttgagcagggatgccac																										11LU022_TP	11LU022_NB	G	G																c.1665C>A	p.=	p.S555S	ENST00000362061	12/44	337	286	51	354	353	1	strelka-varscan-mutect	CACNA1S,synonymous_variant,p.=,ENST00000362061,NM_000069.2;CACNA1S,synonymous_variant,p.=,ENST00000367338,;	T	ENST00000362061	Transcript	synonymous_variant	1892/6166	1665/5622	555/1873	S	tcC/tcA	COSM399854	1		-1	CACNA1S	HGNC	HGNC:1397	protein_coding	YES	CCDS1407.1	ENSP00000355192	Q13698		UPI000020471D	NM_000069.2			12/44		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	3	201077082	201077082	G	T	1	0	0	0	0	0	0	0	1	2235	1335	47	2		2	CACNA1S	1	201077082	Silent	SNP	G	11LU022_TP	3655644	201077082	47879340	72	744	19	2									
CACNA1S	0	.	GRCh38	chr1	201077083	201077083	+	Missense_Mutation	SNP	G	G	T																															gggaggcgatggagcggatgGagttgagcagggatgccacc																								novel		11LU022_TP	11LU022_NB	G	G																c.1664C>A	p.Ser555Tyr	p.S555Y	ENST00000362061	12/44	338	287	51	356	356	0	strelka-varscan-mutect	CACNA1S,missense_variant,p.Ser555Tyr,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Ser555Tyr,ENST00000367338,;	T	ENST00000362061	Transcript	missense_variant	1891/6166	1664/5622	555/1873	S/Y	tCc/tAc		1		-1	CACNA1S	HGNC	HGNC:1397	protein_coding	YES	CCDS1407.1	ENSP00000355192	Q13698		UPI000020471D	NM_000069.2	deleterious(0)		12/44		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	201077083	201077083	G	T	1	0	0	0	0	1	0	0	0	2235	1174	41	2		2	CACNA1S	1	201077083	Missense_Mutation	SNP	G	11LU022_TP	1	201077083	47879339	73	745	19	2									
CACNA1S	0	.	GRCh38	chr1	201078028	201078028	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagatagacatgaagtaCtggcgcaggcccagcccgta	12	7	12	10	2	0	4	0	2	0	2	0	4	0	4	2	2	2	3	2	2	5	4	rs373712202		11LU022_TP	11LU022_NB	C	C																c.1470G>T	p.Gln490His	p.Q490H	ENST00000362061	11/44	517	315	202	451	451	0	strelka-varscan-mutect	CACNA1S,missense_variant,p.Gln490His,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Gln490His,ENST00000367338,;	A	ENST00000362061	Transcript	missense_variant	1697/6166	1470/5622	490/1873	Q/H	caG/caT	rs373712202	1		-1	CACNA1S	HGNC	HGNC:1397	protein_coding	YES	CCDS1407.1	ENSP00000355192	Q13698		UPI000020471D	NM_000069.2	deleterious(0.03)		11/44		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		rs373712202	.												A	3	1	3	201078028	201078028	C	A	1	0	0	0	0	1	0	0	0	2235	564	20	2		2	CACNA1S	1	201078028	Missense_Mutation	SNP	C	11LU022_TP	945	201078028	47878394	74	746											
IGFN1	0	.	GRCh38	chr1	201206425	201206425	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatcaatcccacagagAgggaggctgggccagaagcc	14	3	14	10	0	1	2	1	0	0	2	2	5	2	4	3	4	1	1	3	4	4	0	novel		11LU022_TP	11LU022_NB	A	A																c.1532A>T	p.Glu511Val	p.E511V	ENST00000335211	12/24	272	172	100	233	233	0	strelka-varscan-mutect	IGFN1,missense_variant,p.Glu511Val,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,non_coding_transcript_exon_variant,,ENST00000444705,;IGFN1,intron_variant,,ENST00000437879,;	T	ENST00000335211	Transcript	missense_variant	1662/11810	1532/11127	511/3708	E/V	gAg/gTg		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1	deleterious(0)		12/24																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	201206425	201206425	A	T	1	0	0	0	0	1	0	0	0	7497	304	11	4		4	IGFN1	1	201206425	Missense_Mutation	SNP	A	11LU022_TP	128397	201206425	47749997	75	747											
ADORA1	0	.	GRCh38	chr1	203165549	203165549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctacctaatccgcaagcaGctcaacaagaaggtgtcggc	12	8	9	12	2	2	1	1	0	1	1	4	1	3	1	2	2	4	3	2	2	6	3	novel		11LU022_TP	11LU022_NB	G	G																c.630G>T	p.Gln210His	p.Q210H	ENST00000367236	3/3	103	71	32	77	77	0	strelka-varscan	ADORA1,missense_variant,p.Gln210His,ENST00000367236,NM_001048230.1;ADORA1,missense_variant,p.Gln210His,ENST00000337894,NM_000674.2;ADORA1,missense_variant,p.Gln210His,ENST00000309502,;ADORA1,missense_variant,p.Gln94His,ENST00000618295,;ADORA1,3_prime_UTR_variant,,ENST00000367235,;MYBPH,downstream_gene_variant,,ENST00000255416,NM_004997.2;MYBPH,downstream_gene_variant,,ENST00000621380,;ADORA1,non_coding_transcript_exon_variant,,ENST00000472535,;ADORA1,non_coding_transcript_exon_variant,,ENST00000467253,;ADORA1,non_coding_transcript_exon_variant,,ENST00000464019,;	T	ENST00000367236	Transcript	missense_variant	1551/3407	630/981	210/326	Q/H	caG/caT		1		1	ADORA1	HGNC	HGNC:262	protein_coding	YES	CCDS1434.1	ENSP00000356205	P30542		UPI00000503E1	NM_001048230.1	deleterious(0.03)		3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24246,hmmpanther:PTHR24246:SF1,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	203165549	203165549	G	T	1	0	0	0	0	1	0	0	0	401	962	34	2		2	ADORA1	1	203165549	Missense_Mutation	SNP	G	11LU022_TP	1959124	203165549	45790873	76	748											
CHIT1	0	.	GRCh38	chr1	203217054	203217054	+	Frame_Shift_Del	DEL	G	G	-																															aacgtgtcttgtccagggctGgggccatgctcaggttcaga																										11LU022_TP	11LU022_NB	G	G																c.1236delC	p.Ser413AlafsTer65	p.S413Afs*65	ENST00000367229	11/11	363	296	67	288	288	0	sindel-varindel-pindel	CHIT1,frameshift_variant,p.Ser413AlafsTer65,ENST00000367229,NM_001270509.1,NM_003465.2;CHIT1,frameshift_variant,p.Ser394AlafsTer65,ENST00000255427,NM_001256125.1;CHIT1,intron_variant,,ENST00000484834,;CHIT1,intron_variant,,ENST00000479483,;CHIT1,downstream_gene_variant,,ENST00000506427,;CHIT1,3_prime_UTR_variant,,ENST00000491855,;CHIT1,3_prime_UTR_variant,,ENST00000503786,;	-	ENST00000367229	Transcript	frameshift_variant	1271/2246	1236/1401	412/466	P/X	ccC/cc	COSM255941	1		-1	CHIT1	HGNC	HGNC:1936	protein_coding	YES	CCDS1436.1	ENSP00000356198	Q13231		UPI00000399C1	NM_001270509.1,NM_003465.2			11/11		hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF211											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	3	203217054	203217054	G	-	1	0	1	0	1	0	0	0	0	3105	1335	47	0		0	CHIT1	1	203217054	Frame_Shift_Del	DEL	G	11LU022_TP	51505	203217054	45739368	77	749											
AVPR1B	0	.	GRCh38	chr1	206115970	206115970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatcaggggcattcttGtcccacacggaccacatctg	8	10	8	15	1	4	0	2	0	2	0	5	1	5	1	3	3	0	1	3	3	0	3	novel		11LU022_TP	11LU022_NB	G	G																c.921C>A	p.Asp307Glu	p.D307E	ENST00000367126	1/2	59	28	31	48	48	0	strelka-varscan	AVPR1B,missense_variant,p.Asp307Glu,ENST00000367126,NM_000707.3;RP11-38J22.3,upstream_gene_variant,,ENST00000425896,;AVPR1B,intron_variant,,ENST00000612906,;	T	ENST00000367126	Transcript	missense_variant	1386/2237	921/1275	307/424	D/E	gaC/gaA		1		-1	AVPR1B	HGNC	HGNC:896	protein_coding	YES	CCDS73015.1	ENSP00000356094	P47901		UPI000005043A	NM_000707.3	deleterious(0.01)		1/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00896,Prints_domain:PR00897,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF18,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	206115970	206115970	G	T	1	0	0	0	0	1	0	0	0	1388	1368	48	2		2	AVPR1B	1	206115970	Missense_Mutation	SNP	G	11LU022_TP	2898916	206115970	42840452	78	750											
CR1	0	.	GRCh38	chr1	207616689	207616689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgacacccacccagacaGagggatgaccttcaacctca	13	5	8	15	1	2	3	2	1	0	2	2	5	2	4	4	1	2	0	4	1	1	1	rs777865155		11LU022_TP	11LU022_NB	G	G																c.6776G>T	p.Arg2259Ile	p.R2259I	ENST00000367049	41/47	313	240	73	228	228	0	strelka-varscan	CR1,missense_variant,p.Arg2259Ile,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Arg1809Ile,ENST00000367051,;CR1,missense_variant,p.Arg1809Ile,ENST00000367052,;CR1,missense_variant,p.Arg1809Ile,ENST00000367053,;CR1,missense_variant,p.Arg1809Ile,ENST00000400960,NM_000573.3;CR1,missense_variant,p.Arg432Ile,ENST00000529814,;	T	ENST00000367049	Transcript	missense_variant	6776/7470	6776/7470	2259/2489	R/I	aGa/aTa	rs777865155	1		1	CR1	HGNC	HGNC:2334	protein_coding	YES	CCDS44308.1	ENSP00000356016		E9PDY4	UPI000040E8CF	NM_000651.4	deleterious(0.03)		41/47		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF354,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	207616689	207616689	G	T	1	0	0	0	0	1	0	0	0	3638	942	33	2		2	CR1	1	207616689	Missense_Mutation	SNP	G	11LU022_TP	1500719	207616689	41339733	79	751											
TRAF3IP3	0	.	GRCh38	chr1	209781452	209781453	+	Frame_Shift_Ins	INS	-	-	C																															accagagccagcagctgcctINScccagagtaagagggtctct																								novel		11LU022_TP	11LU022_NB	-	-																c.1560dupC	p.Arg521GlnfsTer26	p.R521Qfs*26	ENST00000367024	16/17	148	86	62	144	144	0	sindel-varindel-pindel	TRAF3IP3,frameshift_variant,p.Arg521GlnfsTer26,ENST00000367024,NM_001320143.1;TRAF3IP3,frameshift_variant,p.Arg521GlnfsTer26,ENST00000367025,NM_025228.3;TRAF3IP3,frameshift_variant,p.Arg501GlnfsTer26,ENST00000367026,NM_001320144.1;C1orf74,3_prime_UTR_variant,,ENST00000294811,NM_152485.2;TRAF3IP3,intron_variant,,ENST00000477431,;IRF6,downstream_gene_variant,,ENST00000367021,NM_006147.3;IRF6,downstream_gene_variant,,ENST00000542854,NM_001206696.1;TRAF3IP3,downstream_gene_variant,,ENST00000400959,;TRAF3IP3,downstream_gene_variant,,ENST00000367023,NM_001287754.1;TRAF3IP3,downstream_gene_variant,,ENST00000487271,;TRAF3IP3,non_coding_transcript_exon_variant,,ENST00000467830,;TRAF3IP3,downstream_gene_variant,,ENST00000488702,;TRAF3IP3,3_prime_UTR_variant,,ENST00000471368,;TRAF3IP3,non_coding_transcript_exon_variant,,ENST00000460314,;TRAF3IP3,downstream_gene_variant,,ENST00000476050,;TRAF3IP3,downstream_gene_variant,,ENST00000478359,;TRAF3IP3,downstream_gene_variant,,ENST00000474496,;	C	ENST00000367024	Transcript	frameshift_variant	2073-2074/2331	1557-1558/1656	519-520/551	-/X	-/C		1		1	TRAF3IP3	HGNC	HGNC:30766	protein_coding	YES	CCDS1490.2	ENSP00000355991	Q9Y228		UPI00005190E1	NM_001320143.1			16/17		hmmpanther:PTHR15715:SF21,hmmpanther:PTHR15715																	HIGH		insertion	2	3		1										PASS		.	.												C	7	5	3	209781452	209781452	-	C	1	0	1	1	0	0	0	0	0	16925	1538	54	0		0	TRAF3IP3	1	209781452	Frame_Shift_Ins	INS	-	11LU022_TP	2164763	209781452	39174970	80	752											
PTPN14	0	.	GRCh38	chr1	214393744	214393744	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgtgtcgtgtggcaaacaAccgagaaatatacttggcat	12	11	10	8	2	0	1	0	0	0	1	1	2	0	1	1	2	3	2	1	2	5	4	novel		11LU022_TP	11LU022_NB	A	A																c.880T>C	p.=	p.L294L	ENST00000366956	10/19	349	330	19	281	281	0	strelka-varscan	PTPN14,synonymous_variant,p.=,ENST00000366956,NM_005401.4;PTPN14,3_prime_UTR_variant,,ENST00000543945,;	G	ENST00000366956	Transcript	synonymous_variant	1075/12985	880/3564	294/1187	L	Ttg/Ctg		1		-1	PTPN14	HGNC	HGNC:9647	protein_coding	YES	CCDS1514.1	ENSP00000355923	Q15678		UPI000013DCA6	NM_005401.4			10/19		PROSITE_profiles:PS50057,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77,Pfam_domain:PF09380,PIRSF_domain:PIRSF000934,Gene3D:2.30.29.30,SMART_domains:SM01196,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	3	214393744	214393744	A	G	1	0	0	0	0	0	0	0	1	12936	40	2	5		5	PTPN14	1	214393744	Silent	SNP	A	11LU022_TP	4612292	214393744	34562678	81	753											
KCNK2	0	.	GRCh38	chr1	215086437	215086437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaggctctcgttttccaCgaaacccacagtgcttgctt	8	11	8	14	3	1	0	0	0	1	0	3	2	2	0	3	1	3	4	3	1	1	4			11LU022_TP	11LU022_NB	C	C																c.116C>T	p.Thr39Met	p.T39M	ENST00000444842	2/7	280	248	32	215	214	1	strelka-varscan	KCNK2,missense_variant,p.Thr39Met,ENST00000444842,NM_001017425.2;KCNK2,missense_variant,p.Thr24Met,ENST00000391894,NM_014217.3;KCNK2,missense_variant,p.Thr35Met,ENST00000391895,NM_001017424.2;KCNK2,5_prime_UTR_variant,,ENST00000457122,;KCNK2,5_prime_UTR_variant,,ENST00000478774,;KCNK2,missense_variant,p.Thr35Met,ENST00000486921,;KCNK2,missense_variant,p.Thr35Met,ENST00000467031,;KCNK2,missense_variant,p.Thr24Met,ENST00000474771,;KCNK2,missense_variant,p.Thr39Met,ENST00000470177,;	T	ENST00000444842	Transcript	missense_variant	266/3379	116/1281	39/426	T/M	aCg/aTg	COSM1639719,COSM1639720,COSM5461139	1		1	KCNK2	HGNC	HGNC:6277	protein_coding	YES	CCDS41467.1	ENSP00000394033	O95069		UPI000013D4B8	NM_001017425.2	deleterious_low_confidence(0)		2/7		hmmpanther:PTHR11003:SF21,hmmpanther:PTHR11003											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	3	215086437	215086437	C	T	1	0	0	0	0	1	0	0	0	7983	536	19	1		1	KCNK2	1	215086437	Missense_Mutation	SNP	C	11LU022_TP	692693	215086437	33869985	82	754											
USH2A	0	.	GRCh38	chr1	215838095	215838095	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaggcatatattgtgcaGacttcaacctgcaaacatta	14	10	7	10	1	1	1	1	0	0	1	1	1	1	1	1	1	4	4	1	1	5	5	novel		11LU022_TP	11LU022_NB	G	G																c.9267C>A	p.=	p.V3089V	ENST00000307340	47/72	327	297	30	280	279	1	strelka-varscan	USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;	T	ENST00000307340	Transcript	synonymous_variant	9654/18883	9267/15609	3089/5202	V	gtC/gtA		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			47/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	215838095	215838095	G	T	1	0	0	0	0	0	0	0	1	17570	929	33	2		2	USH2A	1	215838095	Silent	SNP	G	11LU022_TP	751658	215838095	33118327	83	755											
ESRRG	0	.	GRCh38	chr1	216519299	216519299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcgtccattatataatCgtctgcatagacaagttcat	11	15	6	9	2	3	1	1	0	2	1	6	1	4	1	1	0	1	2	1	0	5	6	novel		11LU022_TP	11LU022_NB	C	C																c.1021G>T	p.Asp341Tyr	p.D341Y	ENST00000366937	7/8	440	399	41	331	331	0	strelka-varscan	ESRRG,missense_variant,p.Asp306Tyr,ENST00000391890,NM_001243515.1,NM_001243519.1;ESRRG,missense_variant,p.Asp306Tyr,ENST00000360012,NM_001243514.1;ESRRG,missense_variant,p.Asp341Tyr,ENST00000366937,NM_001243518.1;ESRRG,missense_variant,p.Asp306Tyr,ENST00000361525,NM_206594.2;ESRRG,missense_variant,p.Asp306Tyr,ENST00000366940,NM_001134285.2,NM_001243511.2;ESRRG,missense_variant,p.Asp306Tyr,ENST00000493603,NM_001243510.2;ESRRG,missense_variant,p.Asp306Tyr,ENST00000366938,NM_001243513.1;ESRRG,missense_variant,p.Asp306Tyr,ENST00000361395,;ESRRG,missense_variant,p.Asp329Tyr,ENST00000408911,NM_001438.3;ESRRG,missense_variant,p.Asp306Tyr,ENST00000359162,NM_206595.2,NM_001243506.1;ESRRG,missense_variant,p.Asp306Tyr,ENST00000616180,;ESRRG,missense_variant,p.Asp267Tyr,ENST00000463665,NM_001243507.1;ESRRG,missense_variant,p.Asp306Tyr,ENST00000487276,NM_001243512.1;ESRRG,missense_variant,p.Asp306Tyr,ENST00000493748,NM_001243509.1;ESRRG,missense_variant,p.Asp306Tyr,ENST00000475275,;	A	ENST00000366937	Transcript	missense_variant	1288/5365	1021/1413	341/470	D/Y	Gat/Tat		1		-1	ESRRG	HGNC	HGNC:3474	protein_coding	YES	CCDS58061.1	ENSP00000355904	P62508		UPI0000D4BFAB	NM_001243518.1	deleterious(0)		7/8		hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF21,PIRSF_domain:PIRSF500939,Gene3D:1.10.565.10,PIRSF_domain:PIRSF002527,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	216519299	216519299	C	A	1	0	0	0	0	1	0	0	0	5124	884	31	1		1	ESRRG	1	216519299	Missense_Mutation	SNP	C	11LU022_TP	681204	216519299	32437123	84	756											
EPRS	0	.	GRCh38	chr1	220032386	220032386	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaaagaaaaaaaggcttaCcactcgagctttggttgttg	16	10	9	6	1	0	1	0	0	0	1	1	2	0	1	1	2	2	4	1	2	7	4	novel		11LU022_TP	11LU022_NB	C	C																c.528+1G>T		p.X176_splice	ENST00000366923		157	145	12	162	161	1	strelka-varscan	EPRS,splice_donor_variant,,ENST00000366923,NM_004446.2;EPRS,splice_donor_variant,,ENST00000609181,;EPRS,splice_donor_variant,,ENST00000477030,;	A	ENST00000366923	Transcript	splice_donor_variant	-/5014	528/4539	176/1512				1		-1	EPRS	HGNC	HGNC:3418	protein_coding	YES	CCDS31027.1	ENSP00000355890	P07814		UPI0000205E8C	NM_004446.2				5/31																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	3	220032386	220032386	C	A	1	0	0	0	0	0	0	1	0	5039	521	18	2		2	EPRS	1	220032386	Splice_Site	SNP	C	11LU022_TP	3513087	220032386	28924036	85	757											
RAB3GAP2	0	.	GRCh38	chr1	220167534	220167534	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagtccatctccatctctGatacctcaaggaaacttctg	11	12	5	13	0	4	1	1	1	3	0	7	2	5	2	3	1	2	0	3	1	4	3	novel		11LU022_TP	11LU022_NB	G	G																c.2948C>A	p.Ser983Ter	p.S983*	ENST00000358951	25/35	453	415	38	395	395	0	strelka-varscan	RAB3GAP2,stop_gained,p.Ser983Ter,ENST00000358951,NM_012414.3;	T	ENST00000358951	Transcript	stop_gained	3065/7257	2948/4182	983/1393	S/*	tCa/tAa		1		-1	RAB3GAP2	HGNC	HGNC:17168	protein_coding	YES	CCDS31028.1	ENSP00000351832	Q9H2M9		UPI0000072269	NM_012414.3			25/35		Pfam_domain:PF14656,hmmpanther:PTHR12472																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	3	220167534	220167534	G	T	1	0	0	0	0	0	1	0	0	13095	1294	45	2		2	RAB3GAP2	1	220167534	Nonsense_Mutation	SNP	G	11LU022_TP	135148	220167534	28788888	86	758											
DISP1	0	.	GRCh38	chr1	223004128	223004128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttggatagcaaaaccccaGggccgaggtttgatatcaat	13	10	10	8	1	1	1	1	1	0	0	1	3	1	2	3	3	2	2	3	3	5	4			11LU022_TP	11LU022_NB	G	G																c.2731G>T	p.Gly911Trp	p.G911W	ENST00000284476	8/8	229	123	106	235	235	0	strelka-varscan	DISP1,missense_variant,p.Gly911Trp,ENST00000284476,NM_032890.3;	T	ENST00000284476	Transcript	missense_variant	2895/4762	2731/4575	911/1524	G/W	Ggg/Tgg	COSM358333	1		1	DISP1	HGNC	HGNC:19711	protein_coding	YES	CCDS1536.1	ENSP00000284476	Q96F81		UPI000016069D	NM_032890.3	deleterious(0)		8/8		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF115											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	3	223004128	223004128	G	T	1	0	0	0	0	1	0	0	0	4345	1000	35	2		2	DISP1	1	223004128	Missense_Mutation	SNP	G	11LU022_TP	2836594	223004128	25952294	87	759											
DNAH14	0	.	GRCh38	chr1	224964549	224964549	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggttggcaaactatattAccgcagcacagtttgaaata	13	12	8	8	1	0	1	0	1	0	0	0	1	0	1	1	2	3	5	1	2	6	7	novel		11LU022_TP	11LU022_NB	A	A																c.438A>G	p.=	p.L146L	ENST00000400952	5/11	194	112	82	179	179	0	strelka-varscan	DNAH14,synonymous_variant,p.=,ENST00000430092,NM_001373.1;DNAH14,synonymous_variant,p.=,ENST00000439375,;DNAH14,synonymous_variant,p.=,ENST00000445597,;DNAH14,synonymous_variant,p.=,ENST00000366849,;DNAH14,synonymous_variant,p.=,ENST00000400952,NM_001145154.1;DNAH14,synonymous_variant,p.=,ENST00000366850,NM_144989.2;DNAH14,synonymous_variant,p.=,ENST00000366848,;DNAH14,synonymous_variant,p.=,ENST00000433124,;DNAH14,downstream_gene_variant,,ENST00000498360,;DNAH14,upstream_gene_variant,,ENST00000453375,;DNAH14,non_coding_transcript_exon_variant,,ENST00000486657,;DNAH14,upstream_gene_variant,,ENST00000474127,;	G	ENST00000400952	Transcript	synonymous_variant	640/1984	438/1362	146/453	L	ttA/ttG		1		1	DNAH14	HGNC	HGNC:2945	protein_coding	YES	CCDS44322.1	ENSP00000383737	Q0VDD8		UPI0000203FC8	NM_001145154.1			5/11		hmmpanther:PTHR22645,hmmpanther:PTHR22645:SF1																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	3	224964549	224964549	A	G	1	0	0	0	0	0	0	0	1	4415	388	14	5		5	DNAH14	1	224964549	Silent	SNP	A	11LU022_TP	1960421	224964549	23991873	88	760											
GJC2	0	.	GRCh38	chr1	228158689	228158689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccggcctccgcccccgccCccgcgccgcggcccccgccc	0	1	10	30	8	0	0	0	0	0	0	1	0	1	0	12	2	0	0	12	2	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.931C>A	p.Pro311Thr	p.P311T	ENST00000366714	2/2	56	50	6	59	59	0	strelka-varscan	GJC2,missense_variant,p.Pro311Thr,ENST00000366714,NM_020435.3;	A	ENST00000366714	Transcript	missense_variant	1106/2243	931/1320	311/439	P/T	Ccc/Acc		1		1	GJC2	HGNC	HGNC:17494	protein_coding	YES	CCDS1569.1	ENSP00000355675	Q5T442		UPI000034ECE8	NM_020435.3	deleterious(0.05)		2/2		hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF52,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	228158689	228158689	C	A	1	0	0	0	0	1	0	0	0	6292	623	22	2		2	GJC2	1	228158689	Missense_Mutation	SNP	C	11LU022_TP	3194140	228158689	20797733	89	761											
PGBD5	0	.	GRCh38	chr1	230337208	230337208	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccggcacaggctcctggcCaccatgctgtggagctgggg	5	8	15	13	1	0	0	0	0	0	0	2	1	2	1	4	6	2	4	4	6	0	1	rs73119536		11LU022_TP	11LU022_NB	C	C																c.975G>T	p.=	p.V325V	ENST00000391860	4/7	255	163	92	219	218	1	strelka-varscan	PGBD5,synonymous_variant,p.=,ENST00000391860,NM_001258311.1;PGBD5,synonymous_variant,p.=,ENST00000525115,;PGBD5,upstream_gene_variant,,ENST00000530424,;	A	ENST00000391860	Transcript	synonymous_variant	1418/10961	975/1575	325/524	V	gtG/gtT	rs73119536	1		-1	PGBD5	HGNC	HGNC:19405	protein_coding	YES		ENSP00000375733		A0A0A0MS21	UPI000004EBDA	NM_001258311.1			4/7		hmmpanther:PTHR28576,hmmpanther:PTHR28576:SF2,Pfam_domain:PF13843																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	230337208	230337208	C	A	1	0	0	0	0	0	0	0	1	11874	581	21	2		2	PGBD5	1	230337208	Silent	SNP	C	11LU022_TP	2178519	230337208	18619214	90	762											
SIPA1L2	0	.	GRCh38	chr1	232483885	232483885	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttcaaaagctggtcccgCcgtctcattgttatacatct	8	15	6	12	2	4	0	2	0	3	0	6	0	5	0	2	1	2	2	2	1	4	5	novel		11LU022_TP	11LU022_NB	C	C																c.1888G>T	p.Ala630Ser	p.A630S	ENST00000366630	5/22	327	205	122	249	249	0	strelka-varscan	SIPA1L2,missense_variant,p.Ala630Ser,ENST00000366630,;SIPA1L2,missense_variant,p.Ala630Ser,ENST00000262861,NM_020808.3;	A	ENST00000366630	Transcript	missense_variant	2247/6690	1888/5169	630/1722	A/S	Gcg/Tcg		1		-1	SIPA1L2	HGNC	HGNC:23800	protein_coding	YES	CCDS41474.1	ENSP00000355589	Q9P2F8		UPI00001D7D6A		deleterious(0)		5/22		PROSITE_profiles:PS50085,hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711,Pfam_domain:PF02145,Superfamily_domains:0043732																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	232483885	232483885	C	A	1	0	0	0	0	1	0	0	0	14593	739	26	2		2	SIPA1L2	1	232483885	Missense_Mutation	SNP	C	11LU022_TP	2146677	232483885	16472537	91	763											
HEATR1	0	.	GRCh38	chr1	236571671	236571671	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatttccctgctcttgtggCaagggttctaaacatcttca	9	15	7	10	0	4	0	1	0	3	0	5	0	5	0	1	2	2	3	1	2	4	6	novel		11LU022_TP	11LU022_NB	C	C																c.3723G>T	p.Leu1241Phe	p.L1241F	ENST00000366582	27/45	291	251	40	226	226	0	strelka-varscan-mutect	HEATR1,missense_variant,p.Leu1241Phe,ENST00000366582,NM_018072.5;HEATR1,missense_variant,p.Leu1160Phe,ENST00000366581,;HEATR1,downstream_gene_variant,,ENST00000490339,;	A	ENST00000366582	Transcript	missense_variant	3838/8447	3723/6435	1241/2144	L/F	ttG/ttT		1		-1	HEATR1	HGNC	HGNC:25517	protein_coding	YES	CCDS31066.1	ENSP00000355541	Q9H583		UPI000013D4D4	NM_018072.5	tolerated(0.14)		27/45		Gene3D:1.25.10.10,hmmpanther:PTHR13457,hmmpanther:PTHR13457:SF1,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		rs887404006	.												A	3	1	3	236571671	236571671	C	A	1	0	0	0	0	1	0	0	0	6910	709	25	2		2	HEATR1	1	236571671	Missense_Mutation	SNP	C	11LU022_TP	4087786	236571671	12384751	92	764											
ACTN2	0	.	GRCh38	chr1	236762604	236762604	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctcttccgcactctacggGgagagcgatctgtgatgctg	6	12	12	11	3	3	2	0	1	3	1	5	4	4	2	1	2	3	2	1	2	1	3	novel		11LU022_TP	11LU022_NB	G	G																c.2670G>T	p.=	p.G890G	ENST00000542672	21/21	724	614	110	525	525	0	strelka-varscan-mutect	ACTN2,synonymous_variant,p.=,ENST00000546208,NM_001278344.1;ACTN2,synonymous_variant,p.=,ENST00000542672,NM_001278343.1;ACTN2,synonymous_variant,p.=,ENST00000366578,NM_001103.3;ACTN2,downstream_gene_variant,,ENST00000461367,;	T	ENST00000542672	Transcript	synonymous_variant	2890/4906	2670/2685	890/894	G	ggG/ggT		1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1			21/21		Gene3D:1.10.238.10,Pfam_domain:PF08726,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,SMART_domains:SM01184																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	236762604	236762604	G	T	1	0	0	0	0	0	0	0	1	249	1219	43	2		2	ACTN2	1	236762604	Silent	SNP	G	11LU022_TP	190933	236762604	12193818	93	765											
RYR2	0	.	GRCh38	chr1	237640940	237640940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactatccacatggggaacGcgatcatgaccttctattca	12	10	7	12	2	3	1	2	1	1	0	4	3	4	2	2	2	1	0	2	2	3	4	rs794728753		11LU022_TP	11LU022_NB	G	G																c.7159G>T	p.Ala2387Ser	p.A2387S	ENST00000366574	47/105	138	99	39	117	117	0	strelka-varscan-mutect	RYR2,missense_variant,p.Ala2387Ser,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Ala2371Ser,ENST00000360064,;	T	ENST00000366574	Transcript	missense_variant	7476/16562	7159/14904	2387/4967	A/S	Gcg/Tcg	rs794728753,CM056386,HM030024	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.08)		47/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75										pathogenic							MODERATE	1	SNV	1		1,1,1	1										PASS		rs794728753	.												T	3	4	3	237640940	237640940	G	T	1	0	0	0	0	1	0	0	0	14029	1087	38	1		1	RYR2	1	237640940	Missense_Mutation	SNP	G	11LU022_TP	878336	237640940	11315482	94	766											
RYR2	0	.	GRCh38	chr1	237678104	237678104	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaacaagaaatcaagttcTttgcaaaagtacagtataca	19	10	6	6	0	2	2	1	1	1	1	2	2	2	2	0	0	4	4	0	0	9	5	novel		11LU022_TP	11LU022_NB	T	T																c.8887T>A	p.Phe2963Ile	p.F2963I	ENST00000366574	61/105	169	106	63	147	147	0	strelka-varscan-mutect	RYR2,missense_variant,p.Phe2963Ile,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Phe2947Ile,ENST00000360064,;RYR2,intron_variant,,ENST00000609119,;	A	ENST00000366574	Transcript	missense_variant	9204/16562	8887/14904	2963/4967	F/I	Ttt/Att		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		61/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	237678104	237678104	T	A	1	0	0	0	0	1	0	0	0	14029	1609	56	4		4	RYR2	1	237678104	Missense_Mutation	SNP	T	11LU022_TP	37164	237678104	11278318	95	767											
RYR2	0	.	GRCh38	chr1	237709035	237709035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcatcctagatgagttcaCcacactggccagagatctct	10	10	7	14	0	3	3	2	1	1	2	5	4	4	3	4	1	0	1	4	1	1	2	novel		11LU022_TP	11LU022_NB	C	C																c.10079C>A	p.Thr3360Asn	p.T3360N	ENST00000366574	69/105	116	97	19	107	107	0	strelka-varscan-mutect	RYR2,missense_variant,p.Thr3360Asn,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Thr3344Asn,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	A	ENST00000366574	Transcript	missense_variant	10396/16562	10079/14904	3360/4967	T/N	aCc/aAc		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.09)		69/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		rs924056885	.												A	3	1	3	237709035	237709035	C	A	1	0	0	0	0	1	0	0	0	14029	507	18	2		2	RYR2	1	237709035	Missense_Mutation	SNP	C	11LU022_TP	30931	237709035	11247387	96	768											
RYR2	0	.	GRCh38	chr1	237727182	237727182	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcttccggatggccccCttatataatctgccaaggtc	7	11	9	14	1	1	0	0	0	1	0	3	1	2	1	5	3	2	1	5	3	4	4	rs780588693		11LU022_TP	11LU022_NB	C	C																c.10821C>T	p.=	p.P3607P	ENST00000366574	76/105	89	84	5	55	55	0	strelka-mutect	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;RYR2,downstream_gene_variant,,ENST00000609253,;	T	ENST00000366574	Transcript	synonymous_variant	11138/16562	10821/14904	3607/4967	P	ccC/ccT	rs780588693,COSM679865	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			76/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75											0,1						LOW	1	SNV	1		0,1	1										PASS		rs780588693	.												T	2	4	3	237727182	237727182	C	T	1	0	0	0	0	0	0	0	1	14029	668	24	3		3	RYR2	1	237727182	Silent	SNP	C	11LU022_TP	18147	237727182	11229240	97	769											
FMN2	0	.	GRCh38	chr1	240207396	240207396	+	Frame_Shift_Del	DEL	C	C	-																															tcccatctccaccacctctgCcttgcacagagtcctccagc																								rs759245231		11LU022_TP	11LU022_NB	C	C																c.2585delC	p.Pro862LeufsTer25	p.P862Lfs*25	ENST00000319653	5/18	210	190	20	175	175	0	sindel-varindel-pindel	FMN2,frameshift_variant,p.Pro862LeufsTer25,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;	-	ENST00000319653	Transcript	frameshift_variant	2814/6434	2584/5169	862/1722	P/X	Cct/ct	rs759245231	1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4			5/18		SMART_domains:SM00498																	HIGH	1	deletion	5	1		1										PASS		.	.												-	7	5	3	240207396	240207396	C	-	1	0	1	0	1	0	0	0	0	5806	739	26	0		0	FMN2	1	240207396	Frame_Shift_Del	DEL	C	11LU022_TP	2480214	240207396	8749026	98	770											
OPN3	0	.	GRCh38	chr1	241597985	241597985	+	Frame_Shift_Del	DEL	C	C	-																															ttgaattgtctgaagatcttCcacacaacgaagctgcagaa																								rs776170535		11LU022_TP	11LU022_NB	C	C																c.706delG	p.Glu236LysfsTer8	p.E236Kfs*8	ENST00000366554	3/4	119	95	24	121	121	0	sindel-varindel-pindel	OPN3,frameshift_variant,p.Glu236LysfsTer8,ENST00000366554,NM_014322.2;KMO,downstream_gene_variant,,ENST00000366559,NM_003679.4;KMO,downstream_gene_variant,,ENST00000366557,;KMO,downstream_gene_variant,,ENST00000366555,;OPN3,non_coding_transcript_exon_variant,,ENST00000463155,;OPN3,non_coding_transcript_exon_variant,,ENST00000462265,;OPN3,non_coding_transcript_exon_variant,,ENST00000635737,;OPN3,frameshift_variant,p.Trp182Ter,ENST00000469376,;OPN3,frameshift_variant,p.Gly129GlufsTer168,ENST00000490673,;OPN3,3_prime_UTR_variant,,ENST00000478849,;	-	ENST00000366554	Transcript	frameshift_variant	813/2620	706/1209	236/402	E/X	Gaa/aa	rs776170535	1		-1	OPN3	HGNC	HGNC:14007	protein_coding	YES	CCDS31072.1	ENSP00000355512	Q9H1Y3		UPI000000165B	NM_014322.2			3/4		PROSITE_profiles:PS50262,hmmpanther:PTHR24240:SF62,hmmpanther:PTHR24240,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	3	241597985	241597985	C	-	1	0	1	0	1	0	0	0	0	10957	864	30	0		0	OPN3	1	241597985	Frame_Shift_Del	DEL	C	11LU022_TP	1390589	241597985	7358437	99	771											
C1orf101	0	.	GRCh38	chr1	244560969	244560969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagatgcccctattgacaGtgttaccatgccacatttta	11	14	6	10	0	0	2	0	1	0	1	0	2	0	2	4	0	3	1	4	0	4	6	rs376436911		11LU022_TP	11LU022_NB	G	G																c.1331G>T	p.Ser444Ile	p.S444I	ENST00000366534	10/22	392	235	157	316	316	0	strelka-varscan-mutect	C1orf101,missense_variant,p.Ser444Ile,ENST00000366534,NM_001130957.1;C1orf101,missense_variant,p.Ser293Ile,ENST00000366531,NM_001242340.1;C1orf101,missense_variant,p.Ser444Ile,ENST00000366533,NM_173807.4;C1orf101,missense_variant,p.Ser364Ile,ENST00000428042,;C1orf101,non_coding_transcript_exon_variant,,ENST00000473875,;	T	ENST00000366534	Transcript	missense_variant	1385/3333	1331/2856	444/951	S/I	aGt/aTt	rs376436911	1		1	C1orf101	HGNC	HGNC:28491	protein_coding	YES	CCDS44340.1	ENSP00000355492	Q5SY80		UPI00004701CD	NM_001130957.1	deleterious(0.02)		10/22		hmmpanther:PTHR33722:SF3,hmmpanther:PTHR33722																	MODERATE	1	SNV	2			1										PASS		rs376436911	.												T	3	4	3	244560969	244560969	G	T	1	0	0	0	0	1	0	0	0	1954	1029	36	2		2	C1orf101	1	244560969	Missense_Mutation	SNP	G	11LU022_TP	2962984	244560969	4395453	100	772											
KIF26B	0	.	GRCh38	chr1	245685542	245685542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtccagcgaccccgaCtactcctccagcagcgagca	9	5	8	19	3	0	0	0	0	0	0	3	3	3	0	6	0	5	2	6	0	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.2559C>A	p.Asp853Glu	p.D853E	ENST00000407071	12/15	257	237	20	228	228	0	strelka-varscan-mutect	KIF26B,missense_variant,p.Asp472Glu,ENST00000366518,;KIF26B,missense_variant,p.Asp853Glu,ENST00000407071,NM_018012.3;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;	A	ENST00000407071	Transcript	missense_variant	2999/7287	2559/6327	853/2108	D/E	gaC/gaA		1		1	KIF26B	HGNC	HGNC:25484	protein_coding	YES	CCDS44342.1	ENSP00000385545	Q2KJY2		UPI0000695D71	NM_018012.3	tolerated(0.12)		12/15		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	245685542	245685542	C	A	1	0	0	0	0	1	0	0	0	8160	564	20	2		2	KIF26B	1	245685542	Missense_Mutation	SNP	C	11LU022_TP	1124573	245685542	3270880	101	773											
KIF26B	0	.	GRCh38	chr1	245685832	245685832	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctttcctttcgaagaacTgcctgctcagtttgggccag	7	12	10	12	1	1	1	1	0	0	1	3	2	2	1	3	1	4	3	3	1	2	3	rs751705273		11LU022_TP	11LU022_NB	T	T																c.2849T>G	p.Leu950Arg	p.L950R	ENST00000407071	12/15	112	103	9	91	91	0	strelka-varscan-mutect	KIF26B,missense_variant,p.Leu569Arg,ENST00000366518,;KIF26B,missense_variant,p.Leu950Arg,ENST00000407071,NM_018012.3;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;	G	ENST00000407071	Transcript	missense_variant	3289/7287	2849/6327	950/2108	L/R	cTg/cGg	rs751705273	1		1	KIF26B	HGNC	HGNC:25484	protein_coding	YES	CCDS44342.1	ENSP00000385545	Q2KJY2		UPI0000695D71	NM_018012.3	tolerated(0.59)		12/15																			MODERATE	1	SNV	1			1										PASS		rs751705273	.												G	3	3	3	245685832	245685832	T	G	1	0	0	0	0	1	0	0	0	8160	1580	55	5		5	KIF26B	1	245685832	Missense_Mutation	SNP	T	11LU022_TP	290	245685832	3270590	102	774											
ZNF695	0	.	GRCh38	chr1	246987674	246987674	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatgtttagtaagaactgAgcacaggttaaaagctttgc	13	13	9	6	0	0	2	0	1	0	1	0	2	0	2	0	1	4	5	0	1	6	6	novel		11LU022_TP	11LU022_NB	A	A																c.841T>A	p.Ser281Thr	p.S281T	ENST00000339986	4/4	77	70	7	57	57	0	strelka-varscan-mutect	ZNF695,missense_variant,p.Ser281Thr,ENST00000339986,NM_020394.4;ZNF695,intron_variant,,ENST00000487338,NM_001204221.1;ZNF695,intron_variant,,ENST00000498046,;ZNF670-ZNF695,intron_variant,,ENST00000474541,;ZNF670-ZNF695,intron_variant,,ENST00000465049,;ZNF695,intron_variant,,ENST00000479214,;ZNF695,intron_variant,,ENST00000366504,;ZNF695,intron_variant,,ENST00000491337,;	T	ENST00000339986	Transcript	missense_variant	989/3340	841/1548	281/515	S/T	Tca/Aca		1		-1	ZNF695	HGNC	HGNC:30954	protein_coding	YES	CCDS44344.1	ENSP00000341236	Q8IW36		UPI0000F734A8	NM_020394.4	tolerated(0.07)		4/4		Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF119,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	246987674	246987674	A	T	1	0	0	0	0	1	0	0	0	18671	304	11	4		4	ZNF695	1	246987674	Missense_Mutation	SNP	A	11LU022_TP	1301842	246987674	1968748	103	775											
OR2C3	0	.	GRCh38	chr1	247531767	247531767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcccgtaaaacagagacaCcacagccacgtgggaagaac	15	3	10	13	2	0	2	0	0	0	2	1	4	1	3	3	1	3	2	3	1	4	1	novel		11LU022_TP	11LU022_NB	C	C																c.745G>T	p.Val249Leu	p.V249L	ENST00000366487	2/2	451	427	24	413	413	0	strelka-varscan-mutect	OR2C3,missense_variant,p.Val249Leu,ENST00000366487,NM_198074.4;OR2C3,missense_variant,p.Val249Leu,ENST00000617752,;GCSAML,intron_variant,,ENST00000366491,NM_001281834.1;GCSAML,intron_variant,,ENST00000536561,NM_001281853.1;GCSAML,intron_variant,,ENST00000366489,NM_001281835.1;GCSAML,intron_variant,,ENST00000623578,NM_001281837.1;GCSAML,intron_variant,,ENST00000463359,;GCSAML,intron_variant,,ENST00000527084,NM_001281836.1;GCSAML,intron_variant,,ENST00000527541,NM_001281838.1;GCSAML,intron_variant,,ENST00000529512,;GCSAML,intron_variant,,ENST00000526896,;GCSAML,intron_variant,,ENST00000531662,;	A	ENST00000366487	Transcript	missense_variant	1107/2742	745/963	249/320	V/L	Gtg/Ttg		1		-1	OR2C3	HGNC	HGNC:15005	protein_coding	YES	CCDS1634.2	ENSP00000355443	Q8N628		UPI0000061EBD	NM_198074.4	deleterious(0)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF117,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												A	3	1	3	247531767	247531767	C	A	1	0	0	0	0	1	0	0	0	11072	507	18	2		2	OR2C3	1	247531767	Missense_Mutation	SNP	C	11LU022_TP	544093	247531767	1424655	104	776											
OR2C3	0	.	GRCh38	chr1	247532415	247532415	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgataccatgtaaaaactcaAgacaactatgaagaggacag	19	6	8	8	1	1	3	1	1	0	2	1	5	1	4	1	1	3	1	1	1	8	3	novel		11LU022_TP	11LU022_NB	A	A																c.97T>C	p.=	p.L33L	ENST00000366487	2/2	290	270	20	269	269	0	strelka-varscan-mutect	OR2C3,synonymous_variant,p.=,ENST00000366487,NM_198074.4;OR2C3,synonymous_variant,p.=,ENST00000617752,;GCSAML,intron_variant,,ENST00000366491,NM_001281834.1;GCSAML,intron_variant,,ENST00000536561,NM_001281853.1;GCSAML,intron_variant,,ENST00000366489,NM_001281835.1;GCSAML,intron_variant,,ENST00000623578,NM_001281837.1;GCSAML,intron_variant,,ENST00000463359,;GCSAML,intron_variant,,ENST00000527084,NM_001281836.1;GCSAML,intron_variant,,ENST00000527541,NM_001281838.1;GCSAML,intron_variant,,ENST00000529512,;GCSAML,intron_variant,,ENST00000526896,;GCSAML,intron_variant,,ENST00000531662,;	G	ENST00000366487	Transcript	synonymous_variant	459/2742	97/963	33/320	L	Ttg/Ctg		1		-1	OR2C3	HGNC	HGNC:15005	protein_coding	YES	CCDS1634.2	ENSP00000355443	Q8N628		UPI0000061EBD	NM_198074.4			2/2		hmmpanther:PTHR26453:SF117,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	LOW		SNV				1										PASS		.	.												G	2	3	3	247532415	247532415	A	G	1	0	0	0	0	0	0	0	1	11072	69	3	5		5	OR2C3	1	247532415	Silent	SNP	A	11LU022_TP	648	247532415	1424007	105	777											
OR2G3	0	.	GRCh38	chr1	247605949	247605949	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgacatggccttggatCggtacattgctgtctgcaaa	8	12	12	9	1	1	1	0	1	1	0	2	2	1	2	1	4	3	4	1	4	2	3	rs747428945		11LU022_TP	11LU022_NB	C	C																c.364C>A	p.=	p.R122R	ENST00000320002	1/1	155	79	76	151	151	0	strelka-varscan-mutect	OR2G3,synonymous_variant,p.=,ENST00000320002,NM_001001914.1;U6,downstream_gene_variant,,ENST00000637707,;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;	A	ENST00000320002	Transcript	synonymous_variant	364/930	364/930	122/309	R	Cgg/Agg	rs747428945,COSM3486735	1		1	OR2G3	HGNC	HGNC:15008	protein_coding	YES	CCDS31093.1	ENSP00000326301	Q8NGZ4	A0A126GVX0	UPI0000041CD9	NM_001001914.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF300,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											0,1						LOW		SNV			0,1	1										PASS		rs747428945	.												A	2	1	3	247605949	247605949	C	A	1	0	0	0	0	0	0	0	1	11077	875	31	1		1	OR2G3	1	247605949	Silent	SNP	C	11LU022_TP	73534	247605949	1350473	106	778											
OR6F1	0	.	GRCh38	chr1	247712117	247712117	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacataggagacaaaggtGatgaggcatgaactcaggat	16	7	12	6	0	1	4	1	3	0	1	1	6	1	5	0	4	2	1	0	4	4	2			11LU022_TP	11LU022_NB	G	G																c.639C>A	p.=	p.I213I	ENST00000302084	1/1	245	224	21	222	222	0	strelka-varscan-mutect	OR6F1,synonymous_variant,p.=,ENST00000302084,NM_001005286.1;RP11-634B7.4,intron_variant,,ENST00000449298,;RP11-634B7.5,intron_variant,,ENST00000419891,;	T	ENST00000302084	Transcript	synonymous_variant	639/927	639/927	213/308	I	atC/atA	COSM121420,COSM4143634	1		-1	OR6F1	HGNC	HGNC:15027	protein_coding	YES	CCDS31095.1	ENSP00000305640	Q8NGZ6	A0A126GV68	UPI0000041CD7	NM_001005286.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF12,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1,1						LOW		SNV			1,1	1										PASS		rs1391430766	.												T	2	4	3	247712117	247712117	G	T	1	0	0	0	0	0	0	0	1	11269	1280	45	2		2	OR6F1	1	247712117	Silent	SNP	G	11LU022_TP	106168	247712117	1244305	107	779											
TRIM58	0	.	GRCh38	chr1	247864703	247864703	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatccacggtgtcacctcAggagaaagtggaaatgcaga	13	7	13	8	1	2	3	2	1	0	2	3	5	3	4	2	3	1	1	2	3	2	0	novel		11LU022_TP	11LU022_NB	A	A																c.517-2A>T		p.X173_splice	ENST00000366481		160	147	13	178	178	0	strelka-varscan-mutect	TRIM58,splice_acceptor_variant,,ENST00000366481,NM_015431.3;	T	ENST00000366481	Transcript	splice_acceptor_variant	-/3225	517/1461	173/486				1		1	TRIM58	HGNC	HGNC:24150	protein_coding	YES	CCDS1636.1	ENSP00000355437	Q8NG06		UPI000020590E	NM_015431.3				2/5																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	3	247864703	247864703	A	T	1	0	0	0	0	0	0	1	0	17024	202	7	4		4	TRIM58	1	247864703	Splice_Site	SNP	A	11LU022_TP	152586	247864703	1091719	108	780											
TRIM58	0	.	GRCh38	chr1	247864827	247864827	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggagcgagcgacgctgcaGagactgcgggagagcaagag	12	2	19	8	4	0	3	0	0	0	3	0	9	0	4	0	2	5	3	0	2	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.639G>C	p.Gln213His	p.Q213H	ENST00000366481	3/6	504	289	215	419	419	0	strelka-varscan-mutect	TRIM58,missense_variant,p.Gln213His,ENST00000366481,NM_015431.3;	C	ENST00000366481	Transcript	missense_variant	687/3225	639/1461	213/486	Q/H	caG/caC		1		1	TRIM58	HGNC	HGNC:24150	protein_coding	YES	CCDS1636.1	ENSP00000355437	Q8NG06		UPI000020590E	NM_015431.3	deleterious(0.03)		3/6		Low_complexity_(Seg):seg,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF393,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	247864827	247864827	G	C	1	0	0	0	0	1	0	0	0	17024	933	33	4		4	TRIM58	1	247864827	Missense_Mutation	SNP	G	11LU022_TP	124	247864827	1091595	109	781											
OR2L13	0	.	GRCh38	chr1	248100031	248100031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacttcttcctgtggccGagtcctatttgctgtctatc	5	16	7	13	1	3	0	1	0	2	0	6	1	5	0	3	1	1	1	3	1	2	5	rs755310143		11LU022_TP	11LU022_NB	G	G																c.656G>T	p.Arg219Leu	p.R219L	ENST00000358120	2/2	345	291	54	308	306	2	strelka-varscan-mutect	OR2L13,missense_variant,p.Arg219Leu,ENST00000358120,NM_001304535.1,NM_175911.3;	T	ENST00000358120	Transcript	missense_variant	801/1692	656/939	219/312	R/L	cGa/cTa	rs755310143,COSM1341087,COSM1341088	1		1	OR2L13	HGNC	HGNC:19578	protein_coding	YES	CCDS1637.1	ENSP00000350836	Q8N349	A0A126GW96	UPI0000043517	NM_001304535.1,NM_175911.3	tolerated(0.3)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF102,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											0,1,1						MODERATE	1	SNV			0,1,1	1										PASS		rs755310143	.												T	3	4	3	248100031	248100031	G	T	1	0	0	0	0	1	0	0	0	11084	1058	37	1		1	OR2L13	1	248100031	Missense_Mutation	SNP	G	11LU022_TP	235204	248100031	856391	110	782											
OR2T10	0	.	GRCh38	chr1	248593013	248593013	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttgtaaatagcagctccAtagaagaggctgaccactgt	13	10	10	8	0	0	3	0	1	0	2	1	3	1	3	2	1	2	5	2	1	6	5	rs758843051		11LU022_TP	11LU022_NB	A	A																c.756T>A	p.Tyr252Ter	p.Y252*	ENST00000330500	1/1	118	70	48	95	95	0	strelka-varscan-mutect	OR2T10,stop_gained,p.Tyr252Ter,ENST00000330500,NM_001004693.1;Y_RNA,downstream_gene_variant,,ENST00000364732,;	T	ENST00000330500	Transcript	stop_gained	756/939	756/939	252/312	Y/*	taT/taA	rs758843051	1		-1	OR2T10	HGNC	HGNC:19573	protein_coding	YES	CCDS31121.1	ENSP00000329210	Q8NGZ9	A0A126GV79	UPI000004F23B	NM_001004693.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF101,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	HIGH	1	SNV				1										PASS		rs758843051	.												T	4	4	3	248593013	248593013	A	T	1	0	0	0	0	0	1	0	0	11095	224	8	4		4	OR2T10	1	248593013	Nonsense_Mutation	SNP	A	11LU022_TP	492982	248593013	363409	111	783											
OR2T10	0	.	GRCh38	chr1	248593332	248593332	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccacaaaccagcagcctGatgccaggaggagacatacc	14	3	10	14	0	0	2	0	1	0	1	0	4	0	3	5	2	6	1	5	2	2	1	rs200418834		11LU022_TP	11LU022_NB	G	G																c.437C>A	p.Ser146Ter	p.S146*	ENST00000330500	1/1	450	408	42	354	354	0	strelka-varscan-mutect	OR2T10,stop_gained,p.Ser146Ter,ENST00000330500,NM_001004693.1;Y_RNA,downstream_gene_variant,,ENST00000364732,;	T	ENST00000330500	Transcript	stop_gained	437/939	437/939	146/312	S/*	tCa/tAa	rs200418834,COSM4829138	1		-1	OR2T10	HGNC	HGNC:19573	protein_coding	YES	CCDS31121.1	ENSP00000329210	Q8NGZ9	A0A126GV79	UPI000004F23B	NM_001004693.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF101,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											0,1						HIGH	1	SNV			0,1	1										PASS		rs200418834	.												T	4	4	3	248593332	248593332	G	T	1	0	0	0	0	0	1	0	0	11095	1294	45	2		2	OR2T10	1	248593332	Nonsense_Mutation	SNP	G	11LU022_TP	319	248593332	363090	112	784											
OR2T27	0	.	GRCh38	chr1	248650433	248650433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaaccatcgatagaccctCccagccaggctgccgccaca	12	4	8	17	2	0	2	0	0	0	2	2	3	1	2	6	1	3	1	6	1	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.452G>T	p.Gly151Val	p.G151V	ENST00000344889	1/1	362	302	60	291	291	0	strelka-varscan-mutect	OR2T27,missense_variant,p.Gly151Val,ENST00000344889,NM_001001824.1;	A	ENST00000344889	Transcript	missense_variant	452/954	452/954	151/317	G/V	gGa/gTa		1		-1	OR2T27	HGNC	HGNC:31252	protein_coding	YES	CCDS31124.1	ENSP00000342008	Q8NH04		UPI000004F239	NM_001001824.1	tolerated(0.21)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF78,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	3	248650433	248650433	C	A	1	0	0	0	0	1	0	0	0	11098	855	30	2		2	OR2T27	1	248650433	Missense_Mutation	SNP	C	11LU022_TP	57101	248650433	305989	113	785											
TPO	0	.	GRCh38	chr2	1453728	1453728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgcctccaacacggccCtggcacgatggctccctcca	6	5	12	18	3	0	0	0	0	0	0	3	1	3	0	5	5	1	2	5	5	1	0	rs764723379		11LU022_TP	11LU022_NB	C	C																c.517C>A	p.Leu173Met	p.L173M	ENST00000345913	6/17	489	393	96	512	512	0	strelka-varscan-mutect	TPO,missense_variant,p.Leu102Met,ENST00000422464,;TPO,missense_variant,p.Leu173Met,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Leu173Met,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Leu173Met,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,missense_variant,p.Leu173Met,ENST00000346956,NM_175721.3;TPO,missense_variant,p.Leu173Met,ENST00000382198,NM_175722.3;TPO,downstream_gene_variant,,ENST00000423320,;TPO,intron_variant,,ENST00000497517,;	A	ENST00000345913	Transcript	missense_variant	608/3145	517/2802	173/933	L/M	Ctg/Atg	rs764723379,COSM401920	1		1	TPO	HGNC	HGNC:12015	protein_coding	YES	CCDS1643.1	ENSP00000318820	P07202		UPI000013D480	NM_000547.5	deleterious(0)		6/17		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF60,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs764723379	.												A	3	1	3	1453728	1453728	C	A	1	0	0	0	0	1	0	0	0	16891	680	24	2		2	TPO	2	1453728	Missense_Mutation	SNP	C	11LU022_TP		1453728	240739801	114	786											
RNF144A	0	.	GRCh38	chr2	7020649	7020649	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggctgcccggagaccAtgccgatcaccttcctcccc	6	6	10	19	2	1	1	1	0	0	1	3	3	3	1	8	2	2	1	8	2	0	1	novel		11LU022_TP	11LU022_NB	A	A																c.478A>G	p.Met160Val	p.M160V	ENST00000320892	6/9	241	188	53	268	268	0	strelka-varscan-mutect	RNF144A,missense_variant,p.Met160Val,ENST00000320892,NM_014746.4;RNF144A,missense_variant,p.Met156Val,ENST00000432850,;RNF144A,non_coding_transcript_exon_variant,,ENST00000467276,;RNF144A,non_coding_transcript_exon_variant,,ENST00000480970,;RNF144A,downstream_gene_variant,,ENST00000471060,;	G	ENST00000320892	Transcript	missense_variant	920/5743	478/879	160/292	M/V	Atg/Gtg		1		1	RNF144A	HGNC	HGNC:20457	protein_coding	YES	CCDS1657.1	ENSP00000321330	P50876		UPI00001E058A	NM_014746.4	tolerated(0.5)		6/9		hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF99																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	7020649	7020649	A	G	1	0	0	0	0	1	0	0	0	13623	217	8	5		5	RNF144A	2	7020649	Missense_Mutation	SNP	A	11LU022_TP	5566921	7020649	235172880	115	787											
LDAH	0	.	GRCh38	chr2	20685580	20685580	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatcagagccaaatcttTcatcagggggctttaggatt	12	11	10	8	0	4	1	3	0	1	1	4	2	4	2	1	3	1	2	1	3	3	4	novel		11LU022_TP	11LU022_NB	T	T																c.1052A>C	p.Glu351Ala	p.E351A	ENST00000381090	8/9	181	146	35	153	153	0	strelka-varscan-mutect	LDAH,missense_variant,p.Glu351Ala,ENST00000381090,;LDAH,missense_variant,p.Glu221Ala,ENST00000403006,;LDAH,3_prime_UTR_variant,,ENST00000435420,NM_001282724.1,NM_001282719.1;LDAH,3_prime_UTR_variant,,ENST00000541941,NM_001282721.1;LDAH,3_prime_UTR_variant,,ENST00000440866,NM_001282723.1;LDAH,3_prime_UTR_variant,,ENST00000619656,NM_001282722.1;LDAH,3_prime_UTR_variant,,ENST00000237822,NM_021925.3;LDAH,downstream_gene_variant,,ENST00000626491,NM_001282720.1;LDAH,non_coding_transcript_exon_variant,,ENST00000470099,;	G	ENST00000381090	Transcript	missense_variant	1132/2045	1052/1113	351/370	E/A	gAa/gCa		1		-1	LDAH	HGNC	HGNC:26145	protein_coding			ENSP00000370480		B5MDU6	UPI0000208B2E				8/9																			MODERATE		SNV	5			1										PASS		.	.												G	3	3	3	20685580	20685580	T	G	1	0	0	0	0	1	0	0	0	8601	1783	62	5		5	LDAH	2	20685580	Missense_Mutation	SNP	T	11LU022_TP	13664931	20685580	221507949	116	788											
ADCY3	0	.	GRCh38	chr2	24839900	24839900	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccgccggcctccatcttgTtggctacagtgacatcagtc	6	11	10	14	2	2	1	1	1	1	0	4	1	3	1	4	2	2	2	4	2	1	3	novel		11LU022_TP	11LU022_NB	T	T																c.1328A>G	p.Asn443Ser	p.N443S	ENST00000260600	6/21	355	292	63	381	381	0	strelka-varscan-mutect	ADCY3,missense_variant,p.Asn443Ser,ENST00000260600,NM_004036.3;ADCY3,missense_variant,p.Asn443Ser,ENST00000405392,NM_001320613.1;ADCY3,missense_variant,p.Asn114Ser,ENST00000606682,;ADCY3,missense_variant,p.Asn393Ser,ENST00000435135,;ADCY3,missense_variant,p.Asn199Ser,ENST00000427849,;ADCY3,downstream_gene_variant,,ENST00000433852,;ADCY3,non_coding_transcript_exon_variant,,ENST00000454027,;ADCY3,downstream_gene_variant,,ENST00000479517,;	C	ENST00000260600	Transcript	missense_variant	2180/5050	1328/3435	443/1144	N/S	aAc/aGc		1		-1	ADCY3	HGNC	HGNC:234	protein_coding	YES	CCDS1715.1	ENSP00000260600	O60266		UPI000013D0ED	NM_004036.3	tolerated(0.05)		6/21		PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF291,PROSITE_patterns:PS00452,Gene3D:3.30.70.1230,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,SMART_domains:SM00044,Superfamily_domains:SSF55073																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	24839900	24839900	T	C	1	0	0	0	0	1	0	0	0	339	1725	60	5		5	ADCY3	2	24839900	Missense_Mutation	SNP	T	11LU022_TP	4154320	24839900	217353629	117	789											
EPT1	0	.	GRCh38	chr2	26364875	26364875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caatctgataactttttctgGctttctgctggtcgtattca	7	18	7	9	1	4	1	1	1	3	0	5	1	4	1	0	2	2	3	0	2	3	6	novel		11LU022_TP	11LU022_NB	G	G																c.170G>T	p.Gly57Val	p.G57V	ENST00000260585	3/10	249	214	35	234	234	0	strelka-varscan-mutect	EPT1,missense_variant,p.Gly57Val,ENST00000613142,;EPT1,missense_variant,p.Gly57Val,ENST00000260585,NM_033505.2;EPT1,missense_variant,p.Gly57Val,ENST00000447170,;EPT1,missense_variant,p.Gly25Val,ENST00000442141,;	T	ENST00000260585	Transcript	missense_variant	289/8101	170/1194	57/397	G/V	gGc/gTc		1		1	EPT1	HGNC	HGNC:29361	protein_coding	YES	CCDS46240.1	ENSP00000260585	Q9C0D9		UPI00003CE422	NM_033505.2	deleterious(0)		3/10		Pfam_domain:PF01066,PIRSF_domain:PIRSF015665,hmmpanther:PTHR10414,hmmpanther:PTHR10414:SF47,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	26364875	26364875	G	T	1	0	0	0	0	1	0	0	0	5047	1203	42	2		2	EPT1	2	26364875	Missense_Mutation	SNP	G	11LU022_TP	1524975	26364875	215828654	118	790											
C2orf71	0	.	GRCh38	chr2	29071086	29071086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcactctcggggggaGggttgggcaacttgggctgg	5	8	20	8	1	1	0	0	0	1	0	2	1	1	1	0	8	2	4	0	8	1	2			11LU022_TP	11LU022_NB	G	G																c.3176C>T	p.Pro1059Leu	p.P1059L	ENST00000331664	1/2	37	29	8	74	74	0	strelka-varscan-mutect	C2orf71,missense_variant,p.Pro1059Leu,ENST00000331664,NM_001029883.2;	A	ENST00000331664	Transcript	missense_variant	3176/7044	3176/3867	1059/1288	P/L	cCt/cTt	COSM353126	1		-1	C2orf71	HGNC	HGNC:34383	protein_coding	YES	CCDS42669.1	ENSP00000332809	A6NGG8		UPI0000251DD8	NM_001029883.2	tolerated(0.07)		1/2		Pfam_domain:PF15449,hmmpanther:PTHR22017,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	3	29071086	29071086	G	A	1	0	0	0	0	1	0	0	0	2045	1000	35	3		3	C2orf71	2	29071086	Missense_Mutation	SNP	G	11LU022_TP	2706211	29071086	213122443	119	791											
LBH	0	.	GRCh38	chr2	30323535	30323535	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggattgtgaagaaccctAgagaatactcgggtatggga	13	8	13	7	1	0	3	0	1	0	2	1	6	0	5	2	3	2	1	2	3	6	4	novel		11LU022_TP	11LU022_NB	A	A																c.146A>G	p.Ter49TrpextTer12	p.*49Wext*12	ENST00000404397	3/3	126	107	19	140	140	0	strelka-varscan-mutect	LBH,stop_lost,p.Ter49TrpextTer12,ENST00000404397,;	G	ENST00000404397	Transcript	stop_lost	348/543	146/147	49/48	*/W	tAg/tGg		1		1	LBH	HGNC	HGNC:29532	protein_coding			ENSP00000384443		B5MC28	UPI000173A44E				3/3																			HIGH	1	SNV	4			1										PASS		.	.												G	4	3	3	30323535	30323535	A	G	1	0	0	0	0	0	0	0	0	8555	433	15	5		5	LBH	2	30323535	Nonstop_Mutation	SNP	A	11LU022_TP	1252449	30323535	211869994	120	792											
XDH	0	.	GRCh38	chr2	31401277	31401277	+	Frame_Shift_Del	DEL	A	A	-																															ccttccacagttgtcactgcAacatggtgcaaggagcagat																								novel		11LU022_TP	11LU022_NB	A	A																c.249delT	p.Ala84GlnfsTer2	p.A84Qfs*2	ENST00000379416	4/36	512	407	105	544	544	0	sindel-varindel-pindel	XDH,frameshift_variant,p.Ala84GlnfsTer2,ENST00000379416,NM_000379.3;	-	ENST00000379416	Transcript	frameshift_variant	298/5688	249/4002	83/1333	V/X	gtT/gt		1		-1	XDH	HGNC	HGNC:12805	protein_coding	YES	CCDS1775.1	ENSP00000368727	P47989		UPI0000036BC9	NM_000379.3			4/36		PROSITE_profiles:PS51085,hmmpanther:PTHR11908:SF78,hmmpanther:PTHR11908,Gene3D:3.10.20.30,TIGRFAM_domain:TIGR02963,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF54292																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	3	31401277	31401277	A	-	1	0	1	0	1	0	0	0	0	17985	117	5	0		0	XDH	2	31401277	Frame_Shift_Del	DEL	A	11LU022_TP	1077742	31401277	210792252	121	793											
NLRC4	0	.	GRCh38	chr2	32249806	32249806	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcctgaggcttgtggcAgagctgaatattttccccag	8	11	12	10	0	0	3	0	2	0	1	1	3	1	3	3	2	3	4	3	2	2	4	novel		11LU022_TP	11LU022_NB	A	A																c.2058T>A	p.=	p.S686S	ENST00000404025	5/10	183	143	40	166	166	0	strelka-varscan-mutect	NLRC4,synonymous_variant,p.=,ENST00000404025,;NLRC4,synonymous_variant,p.=,ENST00000360906,NM_001199139.1,NM_021209.4;NLRC4,synonymous_variant,p.=,ENST00000402280,NM_001199138.1;NLRC4,intron_variant,,ENST00000342905,NM_001302504.1;	T	ENST00000404025	Transcript	synonymous_variant	2547/3581	2058/3075	686/1024	S	tcT/tcA		1		-1	NLRC4	HGNC	HGNC:16412	protein_coding	YES	CCDS33174.1	ENSP00000385090	Q9NPP4		UPI0000126FAD				5/10		hmmpanther:PTHR10044:SF104,hmmpanther:PTHR10044,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	3	32249806	32249806	A	T	1	0	0	0	0	0	0	0	1	10506	175	7	4		4	NLRC4	2	32249806	Silent	SNP	A	11LU022_TP	848529	32249806	209943723	122	794											
TTC27	0	.	GRCh38	chr2	32812580	32812580	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagatattacatcatttaAggaagttgttcaaagagcct	16	12	8	5	0	2	2	2	0	0	2	2	4	2	3	1	1	2	2	1	1	6	6	novel		11LU022_TP	11LU022_NB	A	A																c.2273A>T	p.Lys758Met	p.K758M	ENST00000317907	18/20	166	138	28	197	197	0	strelka-varscan-mutect	TTC27,missense_variant,p.Lys758Met,ENST00000317907,NM_017735.4,NM_001193509.1;TTC27,3_prime_UTR_variant,,ENST00000428527,;	T	ENST00000317907	Transcript	missense_variant	2504/2876	2273/2532	758/843	K/M	aAg/aTg		1		1	TTC27	HGNC	HGNC:25986	protein_coding	YES	CCDS33176.1	ENSP00000313953	Q6P3X3		UPI0000208226	NM_017735.4,NM_001193509.1	deleterious(0.02)		18/20		hmmpanther:PTHR16193																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	32812580	32812580	A	T	1	0	0	0	0	1	0	0	0	17203	72	3	4		4	TTC27	2	32812580	Missense_Mutation	SNP	A	11LU022_TP	562774	32812580	209380949	123	795											
LTBP1	0	.	GRCh38	chr2	33222100	33222100	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttatcatggatacaaccaaAtgatggaatgcctaccgggt	13	10	9	9	1	1	1	1	1	0	0	1	3	1	3	3	3	4	0	3	3	6	3	rs751289584		11LU022_TP	11LU022_NB	A	A																c.1825A>C	p.Met609Leu	p.M609L	ENST00000404816	9/34	197	173	24	198	197	1	strelka-mutect	LTBP1,missense_variant,p.Met609Leu,ENST00000404816,NM_206943.2;LTBP1,missense_variant,p.Met283Leu,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,missense_variant,p.Met283Leu,ENST00000404525,NM_001166265.1;LTBP1,missense_variant,p.Met283Leu,ENST00000407925,NM_000627.3;LTBP1,missense_variant,p.Met283Leu,ENST00000402934,;	C	ENST00000404816	Transcript	missense_variant	2178/6333	1825/5166	609/1721	M/L	Atg/Ctg	rs751289584	1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2	tolerated(0.36)		9/34		Gene3D:3.90.290.10,Pfam_domain:PF00683,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF39,Superfamily_domains:SSF57581																	MODERATE	1	SNV	5			1										PASS		rs751289584	.												C	3	2	3	33222100	33222100	A	C	1	0	0	0	0	1	0	0	0	8979	101	4	5		5	LTBP1	2	33222100	Missense_Mutation	SNP	A	11LU022_TP	409520	33222100	208971429	124	796											
CRIM1	0	.	GRCh38	chr2	36479607	36479607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattctgccagtgcgtcaacGgtgaacgccactgcgttgcg	7	9	12	13	5	2	1	1	1	1	0	2	1	2	1	2	1	6	1	2	1	2	2	rs757223335		11LU022_TP	11LU022_NB	G	G																c.1285G>T	p.Gly429Cys	p.G429C	ENST00000280527	7/17	487	372	115	402	401	1	strelka-varscan-mutect	CRIM1,missense_variant,p.Gly429Cys,ENST00000280527,NM_016441.2;CRIM1,non_coding_transcript_exon_variant,,ENST00000481321,;	T	ENST00000280527	Transcript	missense_variant	1652/5912	1285/3111	429/1036	G/C	Ggt/Tgt	rs757223335	1		1	CRIM1	HGNC	HGNC:2359	protein_coding	YES	CCDS1783.1	ENSP00000280527	Q9NZV1		UPI000004C628	NM_016441.2	deleterious(0)		7/17		Gene3D:2.10.70.10,Pfam_domain:PF00093,PROSITE_patterns:PS01208,PROSITE_profiles:PS50184,hmmpanther:PTHR11339,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603																	MODERATE	1	SNV	1			1										PASS		rs757223335	.												T	3	4	3	36479607	36479607	G	T	1	0	0	0	0	1	0	0	0	3674	1116	39	1		1	CRIM1	2	36479607	Missense_Mutation	SNP	G	11LU022_TP	3257507	36479607	205713922	125	797											
THADA	0	.	GRCh38	chr2	43574737	43574737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattccaatcgtaaaagaCtctcagtcaattccacaaag	15	9	5	12	1	2	1	2	0	1	1	6	1	4	1	3	0	0	1	3	0	5	3	novel		11LU022_TP	11LU022_NB	C	C																c.1328G>T	p.Ser443Ile	p.S443I	ENST00000405006	11/38	195	161	34	217	217	0	strelka-varscan-mutect	THADA,missense_variant,p.Ser443Ile,ENST00000403856,;THADA,missense_variant,p.Ser443Ile,ENST00000405006,NM_001083953.1;THADA,missense_variant,p.Ser443Ile,ENST00000405975,NM_022065.4;THADA,missense_variant,p.Ser443Ile,ENST00000404790,NM_001271644.1;THADA,missense_variant,p.Ser443Ile,ENST00000402360,NM_001271643.1;THADA,upstream_gene_variant,,ENST00000407351,;THADA,missense_variant,p.Ser26Ile,ENST00000402796,;THADA,3_prime_UTR_variant,,ENST00000398653,;THADA,3_prime_UTR_variant,,ENST00000408045,;THADA,intron_variant,,ENST00000474159,;	A	ENST00000405006	Transcript	missense_variant	1680/6310	1328/5862	443/1953	S/I	aGt/aTt		1		-1	THADA	HGNC	HGNC:19217	protein_coding	YES	CCDS46268.1	ENSP00000385995	Q6YHU6		UPI00001C0473	NM_001083953.1	deleterious(0.02)		11/38		hmmpanther:PTHR14387,hmmpanther:PTHR14387:SF2,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	43574737	43574737	C	A	1	0	0	0	0	1	0	0	0	16272	565	20	2		2	THADA	2	43574737	Missense_Mutation	SNP	C	11LU022_TP	7095130	43574737	198618792	126	798											
PRKCE	0	.	GRCh38	chr2	46010709	46010709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattttccattcaaggttGtgcttgtgaagggatgagag	10	13	14	4	0	1	2	1	2	0	1	2	5	2	4	1	3	1	2	1	3	2	5	rs774288612		11LU022_TP	11LU022_NB	G	G																c.632G>T	p.Cys211Phe	p.C211F	ENST00000394874	6/6	238	193	45	261	261	0	strelka-varscan-mutect	PRKCE,missense_variant,p.Cys211Phe,ENST00000394874,;PRKCE,intron_variant,,ENST00000306156,NM_005400.2;	T	ENST00000394874	Transcript	missense_variant	741/996	632/660	211/219	C/F	tGt/tTt	rs774288612	1		1	PRKCE	HGNC	HGNC:9401	protein_coding			ENSP00000378341		E9PBI2	UPI0000E5A258		deleterious_low_confidence(0)		6/6		PROSITE_profiles:PS50011																	MODERATE		SNV	3			1										PASS		rs774288612	.												T	3	4	3	46010709	46010709	G	T	1	0	0	0	0	1	0	0	0	12644	1377	48	2		2	PRKCE	2	46010709	Missense_Mutation	SNP	G	11LU022_TP	2435972	46010709	196182820	127	799											
ATP6V1E2	0	.	GRCh38	chr2	46512186	46512186	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacacctccagctgcatTcacagccaggtatgcctctt	8	10	6	17	0	2	0	1	0	1	0	4	0	4	0	5	1	4	3	5	1	1	3	novel		11LU022_TP	11LU022_NB	T	T																c.526A>G	p.Asn176Asp	p.N176D	ENST00000306448	2/2	148	113	35	163	163	0	strelka-varscan-mutect	ATP6V1E2,missense_variant,p.Asn176Asp,ENST00000306448,NM_080653.3;ATP6V1E2,missense_variant,p.Asn176Asp,ENST00000522587,NM_001318063.1;ATP6V1E2,intron_variant,,ENST00000524249,;	C	ENST00000306448	Transcript	missense_variant	1640/1979	526/681	176/226	N/D	Aat/Gat		1		-1	ATP6V1E2	HGNC	HGNC:18125	protein_coding	YES	CCDS1826.1	ENSP00000304891	Q96A05	A0A140VKA8	UPI0000073C6E	NM_080653.3	tolerated(1)		2/2		Superfamily_domains:0053834,HAMAP:MF_00311,Pfam_domain:PF01991,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF20																	MODERATE	1	SNV	1			1										PASS		rs1014102434	.												C	3	2	3	46512186	46512186	T	C	1	0	0	0	0	1	0	0	0	1337	1783	62	5		5	ATP6V1E2	2	46512186	Missense_Mutation	SNP	T	11LU022_TP	501477	46512186	195681343	128	800											
ASB3	0	.	GRCh38	chr2	53670616	53670616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgactaatataactgtCagaccgtagacgttctgatt	12	12	8	9	2	2	4	1	2	1	2	2	4	2	4	1	0	2	3	1	0	4	6	novel		11LU022_TP	11LU022_NB	C	C																c.1444G>T	p.Asp482Tyr	p.D482Y	ENST00000263634	10/10	208	174	34	251	251	0	strelka-varscan-mutect	ASB3,missense_variant,p.Asp482Tyr,ENST00000263634,NM_016115.4;ASB3,missense_variant,p.Asp409Tyr,ENST00000406687,NM_001201965.1;GPR75-ASB3,missense_variant,p.Asp520Tyr,ENST00000406625,NM_001164165.1;ASB3,missense_variant,p.Asp409Tyr,ENST00000394717,NM_145863.2;ASB3,intron_variant,,ENST00000406053,;ASB3,non_coding_transcript_exon_variant,,ENST00000482829,;ASB3,non_coding_transcript_exon_variant,,ENST00000470707,;	A	ENST00000263634	Transcript	missense_variant	1579/2214	1444/1557	482/518	D/Y	Gac/Tac		1		-1	ASB3	HGNC	HGNC:16013	protein_coding	YES	CCDS1846.1	ENSP00000263634	Q9Y575	A0A0A6YY97	UPI00001260E7	NM_016115.4	deleterious(0)		10/10		PROSITE_profiles:PS50225,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF39,Pfam_domain:PF07525,SMART_domains:SM00969,Superfamily_domains:SSF158235																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	53670616	53670616	C	A	1	0	0	0	0	1	0	0	0	1166	826	29	2		2	ASB3	2	53670616	Missense_Mutation	SNP	C	11LU022_TP	7158430	53670616	188522913	129	801											
SPTBN1	0	.	GRCh38	chr2	54649153	54649153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagagggaggtggtcgcagGgtcccatgaactgggacagg	9	6	19	7	1	0	2	0	2	0	1	2	5	1	4	1	6	1	1	1	6	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.5165G>T	p.Gly1722Val	p.G1722V	ENST00000356805	25/36	72	61	11	104	104	0	strelka-varscan-mutect	SPTBN1,missense_variant,p.Gly1724Val,ENST00000615901,;SPTBN1,missense_variant,p.Gly1709Val,ENST00000333896,NM_178313.2;SPTBN1,missense_variant,p.Gly1722Val,ENST00000356805,NM_003128.2;SPTBN1,upstream_gene_variant,,ENST00000496323,;	T	ENST00000356805	Transcript	missense_variant	5446/8482	5165/7095	1722/2364	G/V	gGg/gTg		1		1	SPTBN1	HGNC	HGNC:11275	protein_coding	YES	CCDS33198.1	ENSP00000349259	Q01082	B2ZZ89	UPI0000DBEE4B	NM_003128.2	deleterious(0)		25/36		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF325,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	54649153	54649153	G	T	1	0	0	0	0	1	0	0	0	15475	1232	43	2		2	SPTBN1	2	54649153	Missense_Mutation	SNP	G	11LU022_TP	978537	54649153	187544376	130	802											
SPTBN1	0	.	GRCh38	chr2	54655977	54655977	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgacaagtgggaagacCgatgggaatggttaagactg	13	8	15	5	2	0	3	0	1	0	2	1	7	0	5	1	3	0	1	1	3	4	1	novel		11LU022_TP	11LU022_NB	C	C																c.6025C>T	p.Arg2009Ter	p.R2009*	ENST00000356805	29/36	117	105	12	147	147	0	strelka-varscan-mutect	SPTBN1,stop_gained,p.Arg2011Ter,ENST00000615901,;SPTBN1,stop_gained,p.Arg1996Ter,ENST00000333896,NM_178313.2;SPTBN1,stop_gained,p.Arg2009Ter,ENST00000356805,NM_003128.2;SPTBN1,non_coding_transcript_exon_variant,,ENST00000496323,;	T	ENST00000356805	Transcript	stop_gained	6306/8482	6025/7095	2009/2364	R/*	Cga/Tga		1		1	SPTBN1	HGNC	HGNC:11275	protein_coding	YES	CCDS33198.1	ENSP00000349259	Q01082	B2ZZ89	UPI0000DBEE4B	NM_003128.2			29/36		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF325,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	3	54655977	54655977	C	T	1	0	0	0	0	0	1	0	0	15475	644	23	1		1	SPTBN1	2	54655977	Nonsense_Mutation	SNP	C	11LU022_TP	6824	54655977	187537552	131	803											
CLHC1	0	.	GRCh38	chr2	55180697	55180697	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatcacatccccagcctcCtcagaaaatgtcagtctaga	14	8	5	14	0	4	2	3	0	1	2	6	2	6	2	4	0	1	0	4	0	4	1			11LU022_TP	11LU022_NB	C	C																c.1197G>T	p.Glu399Asp	p.E399D	ENST00000401408	11/13	157	145	12	173	173	0	strelka-varscan-mutect	CLHC1,missense_variant,p.Glu399Asp,ENST00000401408,NM_152385.2;CLHC1,missense_variant,p.Glu399Asp,ENST00000407122,;CLHC1,missense_variant,p.Glu277Asp,ENST00000406076,NM_001135598.1;CLHC1,non_coding_transcript_exon_variant,,ENST00000487320,;CLHC1,intron_variant,,ENST00000494539,;CLHC1,3_prime_UTR_variant,,ENST00000428621,;CLHC1,intron_variant,,ENST00000411884,;	A	ENST00000401408	Transcript	missense_variant	1543/2248	1197/1761	399/586	E/D	gaG/gaT	COSM4624831,COSM4624832	1		-1	CLHC1	HGNC	HGNC:26453	protein_coding	YES	CCDS33201.1	ENSP00000384869	Q8NHS4		UPI00004DEC65	NM_152385.2	deleterious(0.01)		11/13		Gene3D:1bpoA02,PIRSF_domain:PIRSF037469,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF11,Superfamily_domains:SSF48371											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	3	55180697	55180697	C	A	1	0	0	0	0	1	0	0	0	3293	680	24	2		2	CLHC1	2	55180697	Missense_Mutation	SNP	C	11LU022_TP	524720	55180697	187012832	132	804											
MTIF2	0	.	GRCh38	chr2	55237325	55237329	+	Frame_Shift_Del	DEL	TTTTT	TTTTT	-																															ccattacgggttagtttaaaTtttttttgtttttctaactg																								novel		11LU022_TP	11LU022_NB	TTTTT	TTTTT																c.1970_1974delAAAAA	p.Lys657IlefsTer2	p.K657Ifs*2	ENST00000263629	15/16	113	87	26	120	120	0	sindel-varindel-pindel	MTIF2,frameshift_variant,p.Lys657IlefsTer2,ENST00000263629,NM_001321001.1,NM_001005369.1,NM_002453.2;MTIF2,frameshift_variant,p.Lys657IlefsTer2,ENST00000403721,NM_001321002.1;MTIF2,frameshift_variant,p.Lys657IlefsTer2,ENST00000394600,;CLHC1,upstream_gene_variant,,ENST00000406076,NM_001135598.1;RPS27A,downstream_gene_variant,,ENST00000272317,NM_002954.5;MTIF2,downstream_gene_variant,,ENST00000418823,;RPS27A,downstream_gene_variant,,ENST00000404735,NM_001177413.1;RPS27A,downstream_gene_variant,,ENST00000402285,NM_001135592.2;CLHC1,upstream_gene_variant,,ENST00000451916,;RPS27A,downstream_gene_variant,,ENST00000449323,;CLHC1,upstream_gene_variant,,ENST00000487320,;RPS27A,downstream_gene_variant,,ENST00000495843,;RPS27A,downstream_gene_variant,,ENST00000468810,;RPS27A,downstream_gene_variant,,ENST00000463185,;RPS27A,downstream_gene_variant,,ENST00000478196,;RPS27A,downstream_gene_variant,,ENST00000471772,;RPS27A,downstream_gene_variant,,ENST00000494756,;	-	ENST00000263629	Transcript	frameshift_variant	2286-2290/2528	1970-1974/2184	657-658/727	KK/X	aAAAAA/a		1		-1	MTIF2	HGNC	HGNC:7441	protein_coding	YES	CCDS1853.1	ENSP00000263629	P46199		UPI000013D42F	NM_001321001.1,NM_001005369.1,NM_002453.2			15/16		HAMAP:MF_00100_B,hmmpanther:PTHR23115:SF184,hmmpanther:PTHR23115,Gene3D:2.40.30.10,Superfamily_domains:SSF50447																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	3	55237325	55237325	TTTTT	-	1	0	1	0	1	0	0	0	0	9923	1490	52	0		0	MTIF2	2	55237325	Frame_Shift_Del	DEL	TTTTT	11LU022_TP	56628	55237325	186956204	133	805											
PNPT1	0	.	GRCh38	chr2	55667095	55667095	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaatcccgaccatcgcaccTatagtgatataggaaataag	16	8	7	10	2	0	1	0	1	0	0	2	3	1	2	3	1	0	1	3	1	7	5	novel		11LU022_TP	11LU022_NB	T	T																c.1074-2A>G		p.X358_splice	ENST00000447944		180	139	41	173	173	0	strelka-varscan-mutect	PNPT1,splice_acceptor_variant,,ENST00000447944,NM_033109.4;PNPT1,splice_acceptor_variant,,ENST00000260604,;PNPT1,splice_acceptor_variant,,ENST00000415374,;PNPT1,splice_acceptor_variant,,ENST00000415489,;	C	ENST00000447944	Transcript	splice_acceptor_variant	-/4411	1074/2352	358/783				1		-1	PNPT1	HGNC	HGNC:23166	protein_coding	YES	CCDS1856.1	ENSP00000400646	Q8TCS8		UPI000020848E	NM_033109.4				12/27																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	3	55667095	55667095	T	C	1	0	0	0	0	0	0	1	0	12281	1536	53	5		5	PNPT1	2	55667095	Splice_Site	SNP	T	11LU022_TP	429770	55667095	186526434	134	806											
DCTN1	0	.	GRCh38	chr2	74371048	74371048	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttgctcttccattcctgCacctgctccagctggatttt	5	17	6	13	0	1	0	0	0	1	0	4	1	4	1	4	1	4	4	4	1	0	6	novel		11LU022_TP	11LU022_NB	C	C																c.774G>T	p.=	p.V258V	ENST00000361874	9/32	314	226	88	372	372	0	strelka-varscan-mutect	DCTN1,synonymous_variant,p.=,ENST00000361874,NM_004082.4;DCTN1,synonymous_variant,p.=,ENST00000628224,;DCTN1,synonymous_variant,p.=,ENST00000394003,NM_001190837.1;DCTN1,synonymous_variant,p.=,ENST00000409240,NM_001190836.1;DCTN1,synonymous_variant,p.=,ENST00000409868,;DCTN1,synonymous_variant,p.=,ENST00000633691,NM_023019.3;DCTN1,synonymous_variant,p.=,ENST00000409438,NM_001135041.2;DCTN1,synonymous_variant,p.=,ENST00000409567,NM_001135040.2;DCTN1,downstream_gene_variant,,ENST00000458655,;DCTN1,non_coding_transcript_exon_variant,,ENST00000463583,;DCTN1,upstream_gene_variant,,ENST00000495643,;DCTN1,upstream_gene_variant,,ENST00000497666,;DCTN1,synonymous_variant,p.=,ENST00000434055,;DCTN1,non_coding_transcript_exon_variant,,ENST00000466110,;DCTN1,non_coding_transcript_exon_variant,,ENST00000470351,;DCTN1,downstream_gene_variant,,ENST00000477966,;DCTN1,upstream_gene_variant,,ENST00000495895,;DCTN1,downstream_gene_variant,,ENST00000462813,;	A	ENST00000361874	Transcript	synonymous_variant	1092/4500	774/3837	258/1278	V	gtG/gtT		1		-1	DCTN1	HGNC	HGNC:2711	protein_coding	YES	CCDS1939.1	ENSP00000354791	Q14203		UPI0000129A25	NM_004082.4			9/32		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF40																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	74371048	74371048	C	A	1	0	0	0	0	0	0	0	1	4109	697	25	2		2	DCTN1	2	74371048	Silent	SNP	C	11LU022_TP	18703953	74371048	167822481	135	807											
SEMA4F	0	.	GRCh38	chr2	74654476	74654476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagcggcccggtatccGgccgcgtcccccgctcggtg	2	7	15	17	7	0	1	0	1	0	0	3	1	2	1	5	4	2	3	5	4	1	1	novel		11LU022_TP	11LU022_NB	G	G																c.100G>T	p.Gly34Cys	p.G34C	ENST00000357877	1/14	102	84	18	112	111	1	strelka-varscan-mutect	SEMA4F,missense_variant,p.Gly34Cys,ENST00000611975,NM_001271662.1;SEMA4F,missense_variant,p.Gly34Cys,ENST00000357877,NM_004263.4;SEMA4F,missense_variant,p.Gly34Cys,ENST00000339773,NM_001271661.1;SEMA4F,missense_variant,p.Gly34Cys,ENST00000453930,;SEMA4F,missense_variant,p.Gly34Cys,ENST00000434486,;SEMA4F,missense_variant,p.Gly34Cys,ENST00000446927,;SEMA4F,missense_variant,p.Gly34Cys,ENST00000420077,;SEMA4F,missense_variant,p.Gly34Cys,ENST00000458114,;SEMA4F,missense_variant,p.Gly34Cys,ENST00000416236,;	T	ENST00000357877	Transcript	missense_variant	249/4312	100/2313	34/770	G/C	Ggc/Tgc		1		1	SEMA4F	HGNC	HGNC:10734	protein_coding	YES	CCDS1955.1	ENSP00000350547	O95754		UPI0000001BF5	NM_004263.4	deleterious_low_confidence(0.01)		1/14		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF72																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	74654476	74654476	G	T	1	0	0	0	0	1	0	0	0	14311	1116	39	1		1	SEMA4F	2	74654476	Missense_Mutation	SNP	G	11LU022_TP	283428	74654476	167539053	136	808											
CTNNA2	0	.	GRCh38	chr2	79858062	79858062	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagatgacccttgctcGtcggtaaagcgcggcaccat	8	10	11	12	4	0	2	0	1	0	1	2	2	0	2	2	2	3	4	2	2	2	3	rs759308198		11LU022_TP	11LU022_NB	G	G																c.348G>T	p.=	p.S116S	ENST00000402739	3/18	157	121	36	148	148	0	strelka-varscan-mutect	CTNNA2,synonymous_variant,p.=,ENST00000466387,;CTNNA2,synonymous_variant,p.=,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,synonymous_variant,p.=,ENST00000402739,NM_001282597.2;CTNNA2,synonymous_variant,p.=,ENST00000629316,NM_001164883.1;CTNNA2,synonymous_variant,p.=,ENST00000409971,;	T	ENST00000402739	Transcript	synonymous_variant	353/3684	348/2862	116/953	S	tcG/tcT	rs759308198,COSM3963124,COSM3963126	1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2			3/18		Gene3D:1.20.120.230,Pfam_domain:PF01044,Prints_domain:PR00805,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Superfamily_domains:SSF47220											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs759308198	.												T	2	4	3	79858062	79858062	G	T	1	0	0	0	0	0	0	0	1	3822	1132	40	1		1	CTNNA2	2	79858062	Silent	SNP	G	11LU022_TP	5203586	79858062	162335467	137	809											
LRRTM1	0	.	GRCh38	chr2	80302576	80302576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttctcggcgtgctcgccgCctggaagagccacggtggca	5	7	15	14	6	1	1	0	0	1	1	3	2	1	2	3	4	2	3	3	4	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.1244G>T	p.Gly415Val	p.G415V	ENST00000295057	2/2	142	122	20	196	196	0	strelka-varscan-mutect	LRRTM1,missense_variant,p.Gly415Val,ENST00000295057,;LRRTM1,missense_variant,p.Gly415Val,ENST00000409148,NM_178839.4;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.2;CTNNA2,intron_variant,,ENST00000629316,NM_001164883.1;CTNNA2,upstream_gene_variant,,ENST00000541047,NM_001282600.1;LRRTM1,downstream_gene_variant,,ENST00000416268,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000415098,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.Gly415Val,ENST00000433224,;LRRTM1,missense_variant,p.Gly415Val,ENST00000417012,;	A	ENST00000295057	Transcript	missense_variant	1901/2599	1244/1569	415/522	G/V	gGc/gTc		1		-1	LRRTM1	HGNC	HGNC:19408	protein_coding	YES	CCDS1966.1	ENSP00000295057	Q86UE6		UPI000013E1FE		tolerated(0.28)		2/2		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	80302576	80302576	C	A	1	0	0	0	0	1	0	0	0	8945	739	26	2		2	LRRTM1	2	80302576	Missense_Mutation	SNP	C	11LU022_TP	444514	80302576	161890953	138	810											
POLR1A	0	.	GRCh38	chr2	86028653	86028653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccgcagcgcggcctcaatgCcatacgtgttggctatggcg	6	8	13	14	5	1	0	1	0	0	0	1	0	1	0	3	3	3	3	3	3	3	3	novel		11LU022_TP	11LU022_NB	C	C																c.4838G>T	p.Gly1613Val	p.G1613V	ENST00000263857	32/34	284	216	68	328	326	2	strelka-varscan-mutect	POLR1A,missense_variant,p.Gly1613Val,ENST00000263857,NM_015425.3;POLR1A,missense_variant,p.Gly1552Val,ENST00000409681,;POLR1A,non_coding_transcript_exon_variant,,ENST00000471427,;POLR1A,downstream_gene_variant,,ENST00000492034,;POLR1A,downstream_gene_variant,,ENST00000496892,;	A	ENST00000263857	Transcript	missense_variant	5217/12749	4838/5163	1613/1720	G/V	gGc/gTc		1		-1	POLR1A	HGNC	HGNC:17264	protein_coding	YES	CCDS42706.1	ENSP00000263857	O95602		UPI0000D7DB86	NM_015425.3	deleterious(0)		32/34		hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF11,Pfam_domain:PF04998,Superfamily_domains:SSF64484																	MODERATE	1	SNV	1			1										PASS		rs1436454276	.												A	3	1	3	86028653	86028653	C	A	1	0	0	0	0	1	0	0	0	12319	739	26	2		2	POLR1A	2	86028653	Missense_Mutation	SNP	C	11LU022_TP	5726077	86028653	156164876	139	811											
POLR1A	0	.	GRCh38	chr2	86054228	86054228	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccagtgattttcgcctttCcagataagttcagtgggatg	8	14	10	9	1	1	2	1	1	0	1	4	3	3	3	3	1	0	1	3	1	1	5	novel		11LU022_TP	11LU022_NB	C	C																c.2120G>T	p.Gly707Val	p.G707V	ENST00000263857	15/34	239	213	26	276	276	0	strelka-varscan-mutect	POLR1A,missense_variant,p.Gly707Val,ENST00000263857,NM_015425.3;POLR1A,missense_variant,p.Gly707Val,ENST00000409681,;POLR1A,non_coding_transcript_exon_variant,,ENST00000483538,;	A	ENST00000263857	Transcript	missense_variant	2499/12749	2120/5163	707/1720	G/V	gGa/gTa		1		-1	POLR1A	HGNC	HGNC:17264	protein_coding	YES	CCDS42706.1	ENSP00000263857	O95602		UPI0000D7DB86	NM_015425.3	deleterious(0)		15/34		hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF11,Pfam_domain:PF04983,Superfamily_domains:SSF64484																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	86054228	86054228	C	A	1	0	0	0	0	1	0	0	0	12319	855	30	2		2	POLR1A	2	86054228	Missense_Mutation	SNP	C	11LU022_TP	25575	86054228	156139301	140	812											
AFF3	0	.	GRCh38	chr2	99593774	99593774	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctctgttgttgccacaGggcctggttttggtgggctc	2	14	14	11	1	1	0	0	0	1	0	3	0	1	0	2	4	1	5	2	4	0	4	rs746466474		11LU022_TP	11LU022_NB	G	G																c.1962C>G	p.=	p.P654P	ENST00000409579	15/25	139	108	31	146	146	0	strelka-varscan-mutect	AFF3,synonymous_variant,p.=,ENST00000409236,;AFF3,synonymous_variant,p.=,ENST00000317233,NM_002285.2;AFF3,synonymous_variant,p.=,ENST00000409579,NM_001025108.1;	C	ENST00000409579	Transcript	synonymous_variant	2195/4342	1962/3756	654/1251	P	ccC/ccG	rs746466474,COSM3564243	1		-1	AFF3	HGNC	HGNC:6473	protein_coding	YES	CCDS33258.1	ENSP00000386834	P51826		UPI0000545269	NM_001025108.1			15/25		hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF16,Pfam_domain:PF05110											0,1						LOW	1	SNV	5		0,1	1										PASS		rs746466474	.												C	2	2	3	99593774	99593774	G	C	1	0	0	0	0	0	0	0	1	435	987	35	4		4	AFF3	2	99593774	Silent	SNP	G	11LU022_TP	13539546	99593774	142599755	141	813											
IL18RAP	0	.	GRCh38	chr2	102452037	102452037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcccaattctaggttctgGgccaaaatgcgctaccacat	10	10	7	14	1	2	0	0	0	2	0	3	0	3	0	4	2	2	2	4	2	5	4	novel		11LU022_TP	11LU022_NB	G	G																c.1656G>T	p.Trp552Cys	p.W552C	ENST00000264260	12/12	217	178	39	236	236	0	strelka-varscan-mutect	IL18RAP,missense_variant,p.Trp552Cys,ENST00000264260,NM_003853.3;IL18RAP,missense_variant,p.Trp410Cys,ENST00000409369,;	T	ENST00000264260	Transcript	missense_variant	2245/2773	1656/1800	552/599	W/C	tgG/tgT		1		1	IL18RAP	HGNC	HGNC:5989	protein_coding	YES	CCDS2061.1	ENSP00000264260	O95256		UPI0000071CAF	NM_003853.3	deleterious(0)		12/12		Gene3D:3.40.50.10140,Pfam_domain:PF01582,Prints_domain:PR01537,PROSITE_profiles:PS50104,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF23,SMART_domains:SM00255,Superfamily_domains:SSF52200																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	102452037	102452037	G	T	1	0	0	0	0	1	0	0	0	7556	1241	43	2		2	IL18RAP	2	102452037	Missense_Mutation	SNP	G	11LU022_TP	2858263	102452037	139741492	142	814											
FBLN7	0	.	GRCh38	chr2	112187387	112187387	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatctgatccttgtgcagAacctggaggggcctcagacg	8	8	15	10	1	2	3	1	1	1	2	3	5	3	5	3	4	2	1	3	4	1	1	novel		11LU022_TP	11LU022_NB	A	A																c.1201A>G	p.Asn401Asp	p.N401D	ENST00000331203	8/8	256	208	48	277	277	0	strelka-varscan-mutect	FBLN7,missense_variant,p.Asn401Asp,ENST00000331203,NM_153214.2;FBLN7,missense_variant,p.Asn223Asp,ENST00000272559,;FBLN7,missense_variant,p.Asn355Asp,ENST00000409450,NM_001128165.1;FBLN7,missense_variant,p.Asn267Asp,ENST00000409667,;FBLN7,splice_region_variant,p.=,ENST00000409903,;FBLN7,downstream_gene_variant,,ENST00000441565,;RP11-399B17.1,upstream_gene_variant,,ENST00000624058,;	G	ENST00000331203	Transcript	missense_variant	1472/2301	1201/1320	401/439	N/D	Aac/Gac		1		1	FBLN7	HGNC	HGNC:26740	protein_coding	YES	CCDS2095.1	ENSP00000331411	Q53RD9		UPI000004E556	NM_153214.2	deleterious(0.01)		8/8		hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF287																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	112187387	112187387	A	G	1	0	0	0	0	1	0	0	0	5564	260	9	5		5	FBLN7	2	112187387	Missense_Mutation	SNP	A	11LU022_TP	9735350	112187387	130006142	143	815											
PSD4	0	.	GRCh38	chr2	113193119	113193119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggccagagtctggaccGagccctccggtaatgtcttt	7	10	13	11	2	2	1	0	0	2	1	3	4	3	3	4	4	1	1	4	4	1	2	rs45487591		11LU022_TP	11LU022_NB	G	G																c.1910G>T	p.Arg637Leu	p.R637L	ENST00000245796	7/17	80	57	23	75	75	0	strelka-varscan-mutect	PSD4,missense_variant,p.Arg609Leu,ENST00000441564,;PSD4,missense_variant,p.Arg637Leu,ENST00000245796,NM_012455.2;PSD4,upstream_gene_variant,,ENST00000409378,;PSD4,3_prime_UTR_variant,,ENST00000409656,;PSD4,non_coding_transcript_exon_variant,,ENST00000418251,;PSD4,upstream_gene_variant,,ENST00000460725,;PSD4,upstream_gene_variant,,ENST00000487574,;PSD4,upstream_gene_variant,,ENST00000493329,;PSD4,upstream_gene_variant,,ENST00000465592,;	T	ENST00000245796	Transcript	missense_variant	2105/5188	1910/3171	637/1056	R/L	cGa/cTa	rs45487591	1		1	PSD4	HGNC	HGNC:19096	protein_coding	YES	CCDS33276.1	ENSP00000245796	Q8NDX1		UPI00004A0748	NM_012455.2	deleterious(0.04)		7/17		Gene3D:1.10.1000.11,Pfam_domain:PF01369,PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF135,SMART_domains:SM00222,Superfamily_domains:SSF48425																	MODERATE	1	SNV	1			1										PASS		rs45487591	.												T	3	4	3	113193119	113193119	G	T	1	0	0	0	0	1	0	0	0	12800	1058	37	1		1	PSD4	2	113193119	Missense_Mutation	SNP	G	11LU022_TP	1005732	113193119	129000410	144	816											
POTEJ	0	.	GRCh38	chr2	130611659	130611659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggagcggcaagagcaacGtgggcacttctggagaccag	10	4	18	9	2	1	2	0	0	1	2	1	4	1	3	1	5	3	3	1	5	2	1	novel		11LU022_TP	11LU022_NB	G	G																c.127G>T	p.Val43Leu	p.V43L	ENST00000409602	1/15	541	496	45	715	715	0	varscan-mutect	POTEJ,missense_variant,p.Val43Leu,ENST00000409602,NM_001277083.1;	T	ENST00000409602	Transcript	missense_variant	179/3383	127/3117	43/1038	V/L	Gtg/Ttg		1		1	POTEJ	HGNC	HGNC:37094	protein_coding	YES	CCDS59432.1	ENSP00000387176	P0CG39		UPI0000DD7A4B	NM_001277083.1	deleterious_low_confidence(0)		1/15		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50																	MODERATE	1	SNV	5			1										PASS		rs1168552300	.												T	3	4	3	130611659	130611659	G	T	1	0	0	0	0	1	0	0	0	12383	1145	40	1		1	POTEJ	2	130611659	Missense_Mutation	SNP	G	11LU022_TP	17418540	130611659	111581870	145	817											
POTEJ	0	.	GRCh38	chr2	130657106	130657106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccaaccgcgagaagatGacccagatcatgtttgagac	14	6	11	10	2	1	5	1	2	0	4	1	7	1	5	3	1	1	1	3	1	3	1	rs766525244		11LU022_TP	11LU022_NB	G	G																c.2346G>T	p.Met782Ile	p.M782I	ENST00000409602	15/15	355	312	43	459	459	0	varscan-mutect	POTEJ,missense_variant,p.Met782Ile,ENST00000409602,NM_001277083.1;	T	ENST00000409602	Transcript	missense_variant	2398/3383	2346/3117	782/1038	M/I	atG/atT	rs766525244	1		1	POTEJ	HGNC	HGNC:37094	protein_coding	YES	CCDS59432.1	ENSP00000387176	P0CG39		UPI0000DD7A4B	NM_001277083.1	deleterious_low_confidence(0.01)		15/15		Gene3D:3.30.420.40,Pfam_domain:PF00022,Prints_domain:PR00190,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV	5			1										PASS		rs766525244	.												T	3	4	3	130657106	130657106	G	T	1	0	0	0	0	1	0	0	0	12383	1290	45	2		2	POTEJ	2	130657106	Missense_Mutation	SNP	G	11LU022_TP	45447	130657106	111536423	146	818											
POTEE	0	.	GRCh38	chr2	131264302	131264302	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgatggccaggtcatcacCatcggcaacgagcggttccg	8	6	12	15	5	2	0	2	0	0	0	4	2	3	0	4	4	2	2	4	4	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.2847C>G	p.=	p.T949T	ENST00000356920	15/15	649	606	43	719	719	0	varscan-mutect	POTEE,synonymous_variant,p.=,ENST00000356920,NM_001083538.1;PLEKHB2,intron_variant,,ENST00000404460,;POTEE,downstream_gene_variant,,ENST00000626191,;POTEE,downstream_gene_variant,,ENST00000613282,;POTEE,downstream_gene_variant,,ENST00000358087,;POTEE,downstream_gene_variant,,ENST00000514256,;	G	ENST00000356920	Transcript	synonymous_variant	3183/4159	2847/3228	949/1075	T	acC/acG		1		1	POTEE	HGNC	HGNC:33895	protein_coding	YES	CCDS46414.1	ENSP00000439189	Q6S8J3		UPI0000F58EC8	NM_001083538.1			15/15		Pfam_domain:PF00022,Gene3D:3.90.640.10,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	3	131264302	131264302	C	G	1	0	0	0	0	0	0	0	1	12378	581	21	4		4	POTEE	2	131264302	Silent	SNP	C	11LU022_TP	607196	131264302	110929227	147	819											
LCT	0	.	GRCh38	chr2	135823948	135823948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggttcttcatggtggagGggcagtctgggagttttagg	5	13	18	5	0	3	0	1	0	2	0	3	2	3	2	0	7	0	3	0	7	1	4	novel		11LU022_TP	11LU022_NB	G	G																c.860C>A	p.Pro287His	p.P287H	ENST00000264162	4/17	459	359	100	510	508	2	strelka-varscan-mutect	LCT,missense_variant,p.Pro287His,ENST00000264162,NM_002299.2;AC011893.3,downstream_gene_variant,,ENST00000437007,;	T	ENST00000264162	Transcript	missense_variant	871/6279	860/5784	287/1927	P/H	cCc/cAc		1		-1	LCT	HGNC	HGNC:6530	protein_coding	YES	CCDS2178.1	ENSP00000264162	P09848		UPI000013D4D2	NM_002299.2	tolerated(0.17)		4/17		Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	135823948	135823948	G	T	1	0	0	0	0	1	0	0	0	8599	1232	43	2		2	LCT	2	135823948	Missense_Mutation	SNP	G	11LU022_TP	4559646	135823948	106369581	148	820											
LRP1B	0	.	GRCh38	chr2	141188460	141188460	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctattgctttaggattgtgaAgctccagatcaatcagggtg	10	13	11	7	0	2	2	2	1	0	1	3	3	3	3	1	2	2	2	1	2	4	5	novel		11LU022_TP	11LU022_NB	A	A																c.974T>A	p.Leu325His	p.L325H	ENST00000389484	7/91	295	274	21	241	241	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Leu325His,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	T	ENST00000389484	Transcript	missense_variant	1946/16535	974/13800	325/4599	L/H	cTt/cAt		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0)		7/91		PROSITE_profiles:PS51120,Pfam_domain:PF00058,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	141188460	141188460	A	T	1	0	0	0	0	1	0	0	0	8850	72	3	4		4	LRP1B	2	141188460	Missense_Mutation	SNP	A	11LU022_TP	5364512	141188460	101005069	149	821											
KIF5C	0	.	GRCh38	chr2	149000780	149000780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagggctggaggagacaGtggtatgtcaagatatttcc	12	10	13	6	0	2	2	2	0	0	2	3	4	3	3	1	4	0	2	1	4	4	3	novel		11LU022_TP	11LU022_NB	G	G																c.2371G>T	p.Val791Leu	p.V791L	ENST00000435030	21/26	126	102	24	116	116	0	strelka-varscan-mutect	KIF5C,missense_variant,p.Val791Leu,ENST00000435030,NM_004522.2;KIF5C,splice_region_variant,,ENST00000464066,;KIF5C,splice_region_variant,,ENST00000482151,;KIF5C,downstream_gene_variant,,ENST00000460377,;	T	ENST00000435030	Transcript	missense_variant,splice_region_variant	2739/6931	2371/2874	791/957	V/L	Gtg/Ttg		1		1	KIF5C	HGNC	HGNC:6325	protein_coding	YES	CCDS74586.1	ENSP00000393379	O60282		UPI000012DDB7	NM_004522.2	deleterious(0)		21/26		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF380																	MODERATE	1	SNV	1			1										PASS		rs918375830	.												T	3	4	3	149000780	149000780	G	T	1	0	0	0	0	1	0	0	0	8172	1043	36	2		2	KIF5C	2	149000780	Missense_Mutation	SNP	G	11LU022_TP	7812320	149000780	93192749	150	822											
RIF1	0	.	GRCh38	chr2	151443601	151443601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccactagctttcagtgaCtcagttttaaatgttattaa	12	16	5	8	0	3	1	3	1	0	0	3	1	3	1	1	0	1	3	1	0	5	6	novel		11LU022_TP	11LU022_NB	C	C																c.1878C>G	p.Asp626Glu	p.D626E	ENST00000243326	17/35	95	75	20	120	120	0	strelka-varscan-mutect	RIF1,missense_variant,p.Asp626Glu,ENST00000243326,;RIF1,missense_variant,p.Asp626Glu,ENST00000453091,NM_001177663.1;RIF1,missense_variant,p.Asp626Glu,ENST00000430328,NM_001177665.1;RIF1,missense_variant,p.Asp626Glu,ENST00000444746,NM_018151.4;RIF1,missense_variant,p.Asp626Glu,ENST00000428287,NM_001177664.1;RIF1,missense_variant,p.Asp618Glu,ENST00000414861,;	G	ENST00000243326	Transcript	missense_variant	2361/15003	1878/7419	626/2472	D/E	gaC/gaG		1		1	RIF1	HGNC	HGNC:23207	protein_coding	YES	CCDS2194.1	ENSP00000243326	Q5UIP0		UPI000023729F		tolerated(1)		17/35		hmmpanther:PTHR22928																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	151443601	151443601	C	G	1	0	0	0	0	1	0	0	0	13533	564	20	4		4	RIF1	2	151443601	Missense_Mutation	SNP	C	11LU022_TP	2442821	151443601	90749928	151	823											
NEB	0	.	GRCh38	chr2	151667866	151667866	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcatctggtctcaaatCatagcccttggcaatggttt	9	13	10	9	0	3	0	2	0	2	0	4	1	3	0	1	4	1	3	1	4	3	3	novel		11LU022_TP	11LU022_NB	C	C																c.4657G>T	p.Asp1553Tyr	p.D1553Y	ENST00000618972	40/183	180	152	28	192	192	0	strelka-varscan-mutect	NEB,missense_variant,p.Asp1553Tyr,ENST00000618972,NM_001271208.1;NEB,missense_variant,p.Asp1553Tyr,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Asp1553Tyr,ENST00000427231,NM_001164507.1;NEB,missense_variant,p.Asp1553Tyr,ENST00000603639,;NEB,missense_variant,p.Asp1553Tyr,ENST00000604864,;NEB,missense_variant,p.Asp1553Tyr,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Asp1553Tyr,ENST00000172853,;NEB,non_coding_transcript_exon_variant,,ENST00000484968,;	A	ENST00000618972	Transcript	missense_variant	4860/26307	4657/25683	1553/8560	D/Y	Gat/Tat		1		-1	NEB	HGNC	HGNC:7720	protein_coding	YES	CCDS74588.1	ENSP00000484342		A0A087X1N7	UPI0004E4CCB0	NM_001271208.1	tolerated(0.06)		40/183		PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	151667866	151667866	C	A	1	0	0	0	0	1	0	0	0	10326	826	29	2		2	NEB	2	151667866	Missense_Mutation	SNP	C	11LU022_TP	224265	151667866	90525663	152	824											
GALNT5	0	.	GRCh38	chr2	157258861	157258861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttaaacaaaactaagaCtcagagcaaagaagtcaatg	19	6	8	8	0	2	3	2	0	0	3	2	3	2	3	1	1	3	1	1	1	8	2	rs757149965		11LU022_TP	11LU022_NB	C	C																c.779C>G	p.Thr260Ser	p.T260S	ENST00000259056	1/10	20	17	3	23	23	0	strelka-mutect	GALNT5,missense_variant,p.Thr260Ser,ENST00000259056,NM_014568.1;	G	ENST00000259056	Transcript	missense_variant	1264/6171	779/2823	260/940	T/S	aCt/aGt	rs757149965	1		1	GALNT5	HGNC	HGNC:4127	protein_coding	YES	CCDS2203.1	ENSP00000259056	Q7Z7M9		UPI000019AD19	NM_014568.1	tolerated(0.25)		1/10																			MODERATE	1	SNV	1			1										PASS		rs757149965	.												G	3	3	3	157258861	157258861	C	G	1	0	0	0	0	1	0	0	0	6087	565	20	4		4	GALNT5	2	157258861	Missense_Mutation	SNP	C	11LU022_TP	5590995	157258861	84934668	153	825											
UPP2	0	.	GRCh38	chr2	157995221	157995221	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccccaggctgtgagtTggacccagaccaagaagtgg	9	6	15	11	0	0	3	0	1	0	2	0	4	0	4	4	4	0	3	4	4	2	1	novel		11LU022_TP	11LU022_NB	T	T																c.23T>A	p.Leu8Ter	p.L8*	ENST00000605860	2/10	191	153	38	229	229	0	strelka-varscan-mutect	UPP2,stop_gained,p.Leu8Ter,ENST00000605860,NM_001135098.1;	A	ENST00000605860	Transcript	stop_gained	69/2435	23/1125	8/374	L/*	tTg/tAg		1		1	UPP2	HGNC	HGNC:23061	protein_coding	YES	CCDS46435.1	ENSP00000474090	O95045		UPI0000EE2DE7	NM_001135098.1			2/10																			HIGH	1	SNV	5			1										PASS		.	.												A	4	1	3	157995221	157995221	T	A	1	0	0	0	0	0	1	0	0	17539	1821	63	4		4	UPP2	2	157995221	Nonsense_Mutation	SNP	T	11LU022_TP	736360	157995221	84198308	154	826											
COBLL1	0	.	GRCh38	chr2	164695609	164695609	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttttgtcttttctgcacTgggttgattcagtttttgat	5	22	8	6	0	4	2	1	2	3	0	4	2	4	2	0	1	1	3	0	1	0	8	novel		11LU022_TP	11LU022_NB	T	T																c.1897A>T	p.Ser633Cys	p.S633C	ENST00000342193	12/14	157	120	37	158	157	1	strelka-varscan-mutect	COBLL1,missense_variant,p.Ser671Cys,ENST00000392717,;COBLL1,missense_variant,p.Ser595Cys,ENST00000375458,NM_001278461.1;COBLL1,missense_variant,p.Ser633Cys,ENST00000342193,NM_014900.4;COBLL1,missense_variant,p.Ser635Cys,ENST00000409184,NM_001278460.1;COBLL1,missense_variant,p.Ser700Cys,ENST00000629362,NM_001278458.1;COBLL1,downstream_gene_variant,,ENST00000491126,;COBLL1,upstream_gene_variant,,ENST00000493713,;COBLL1,upstream_gene_variant,,ENST00000495084,;COBLL1,non_coding_transcript_exon_variant,,ENST00000493868,;COBLL1,non_coding_transcript_exon_variant,,ENST00000489955,;COBLL1,downstream_gene_variant,,ENST00000456171,;	A	ENST00000342193	Transcript	missense_variant	2113/4898	1897/3501	633/1166	S/C	Agt/Tgt		1		-1	COBLL1	HGNC	HGNC:23571	protein_coding	YES	CCDS2223.2	ENSP00000341360	Q53SF7		UPI000007132B	NM_014900.4	deleterious(0.01)		12/14		hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	164695609	164695609	T	A	1	0	0	0	0	1	0	0	0	3443	1580	55	4		4	COBLL1	2	164695609	Missense_Mutation	SNP	T	11LU022_TP	6700388	164695609	77497920	155	827											
SCN3A	0	.	GRCh38	chr2	165090801	165090801	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaaagtcatcctcactcagGggctctgcactttcttcagt	8	13	7	13	0	7	0	5	0	2	0	8	0	8	0	1	2	1	2	1	2	1	2	rs75324726		11LU022_TP	11LU022_NB	G	G																c.5352C>A	p.=	p.P1784P	ENST00000283254	28/28	484	405	79	406	405	1	strelka-varscan-mutect	SCN3A,synonymous_variant,p.=,ENST00000360093,;SCN3A,synonymous_variant,p.=,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,synonymous_variant,p.=,ENST00000409101,NM_001081677.1;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000628085,;AC013463.2,intron_variant,,ENST00000431341,;AC013463.2,upstream_gene_variant,,ENST00000625505,;SCN3A,downstream_gene_variant,,ENST00000465043,;SCN3A,downstream_gene_variant,,ENST00000471697,;	T	ENST00000283254	Transcript	synonymous_variant	5820/9091	5352/6003	1784/2000	P	ccC/ccA	rs75324726	1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1			28/28		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219																	LOW	1	SNV	1			1										PASS		rs75324726	.												T	2	4	3	165090801	165090801	G	T	1	0	0	0	0	0	0	0	1	14187	1219	43	2		2	SCN3A	2	165090801	Silent	SNP	G	11LU022_TP	395192	165090801	77102728	156	828											
SCN3A	0	.	GRCh38	chr2	165140852	165140852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaacagtgagtctctcctGctttcgctgtcttcaaatgt	9	14	7	11	1	3	1	1	1	2	0	6	1	4	1	1	0	2	2	1	0	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.1818C>A	p.Ser606Arg	p.S606R	ENST00000283254	13/28	330	266	64	310	309	1	strelka-varscan-mutect	SCN3A,missense_variant,p.Ser606Arg,ENST00000360093,;SCN3A,missense_variant,p.Ser606Arg,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,missense_variant,p.Ser606Arg,ENST00000409101,NM_001081677.1;SCN3A,missense_variant,p.Ser606Arg,ENST00000440431,;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000625505,;	T	ENST00000283254	Transcript	missense_variant	2286/9091	1818/6003	606/2000	S/R	agC/agA		1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1	deleterious(0.01)		13/28		Pfam_domain:PF11933,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	165140852	165140852	G	T	1	0	0	0	0	1	0	0	0	14187	1310	46	2		2	SCN3A	2	165140852	Missense_Mutation	SNP	G	11LU022_TP	50051	165140852	77052677	157	829											
GALNT3	0	.	GRCh38	chr2	165765002	165765002	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcattatgaaaaactatTatgacactggtggtgggcag	12	12	11	6	0	1	2	1	2	0	0	1	2	1	2	0	3	1	2	0	3	5	4	novel		11LU022_TP	11LU022_NB	T	T																c.570A>T	p.=	p.I190I	ENST00000392701	3/11	354	274	80	325	325	0	strelka-varscan-mutect	GALNT3,synonymous_variant,p.=,ENST00000392701,NM_004482.3;GALNT3,synonymous_variant,p.=,ENST00000412248,;GALNT3,upstream_gene_variant,,ENST00000409882,;GALNT3,upstream_gene_variant,,ENST00000437849,;GALNT3,upstream_gene_variant,,ENST00000463254,;	A	ENST00000392701	Transcript	synonymous_variant	1346/3868	570/1902	190/633	I	atA/atT		1		-1	GALNT3	HGNC	HGNC:4125	protein_coding	YES	CCDS2226.1	ENSP00000376465	Q14435		UPI000013C989	NM_004482.3			3/11		hmmpanther:PTHR11675:SF33,hmmpanther:PTHR11675,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	165765002	165765002	T	A	1	0	0	0	0	0	0	0	1	6085	1744	61	4		4	GALNT3	2	165765002	Silent	SNP	T	11LU022_TP	624150	165765002	76428527	158	830											
MYO3B	0	.	GRCh38	chr2	170200258	170200258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaagcggatcactgtgtaGggggacagctgtggctggtc	9	8	16	8	1	1	0	1	0	0	0	2	2	1	2	0	5	2	3	0	5	2	1	novel		11LU022_TP	11LU022_NB	G	G																c.295G>T	p.Gly99Trp	p.G99W	ENST00000408978	3/35	157	121	36	119	119	0	strelka-varscan-mutect	MYO3B,missense_variant,p.Gly99Trp,ENST00000408978,NM_138995.4;MYO3B,missense_variant,p.Gly99Trp,ENST00000409044,NM_001083615.3;MYO3B,missense_variant,p.Gly108Trp,ENST00000484338,;MYO3B,missense_variant,p.Gly99Trp,ENST00000442690,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,missense_variant,p.Gly99Trp,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	T	ENST00000408978	Transcript	missense_variant	438/5529	295/4026	99/1341	G/W	Ggg/Tgg		1		1	MYO3B	HGNC	HGNC:15576	protein_coding	YES	CCDS42773.1	ENSP00000386213	Q8WXR4		UPI000020907B	NM_138995.4	deleterious(0)		3/35		PROSITE_profiles:PS50011,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	170200258	170200258	G	T	1	0	0	0	0	1	0	0	0	10078	1000	35	2		2	MYO3B	2	170200258	Missense_Mutation	SNP	G	11LU022_TP	4435256	170200258	71993271	159	831											
CHRNA1	0	.	GRCh38	chr2	174759509	174759509	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acattgatgagctgtatcagCtgcaggcccacggtgacctc	9	9	11	12	1	1	3	1	3	0	0	2	3	1	3	2	2	3	4	2	2	1	2	novel		11LU022_TP	11LU022_NB	C	C																c.168G>T	p.Gln56His	p.Q56H	ENST00000261007	2/10	557	438	119	597	597	0	strelka-varscan-mutect	CHRNA1,missense_variant,p.Gln56His,ENST00000348749,NM_000079.3;CHRNA1,missense_variant,p.Gln56His,ENST00000261007,NM_001039523.2;CHRNA1,missense_variant,p.Gln69His,ENST00000636168,;CHRNA1,missense_variant,p.Gln56His,ENST00000409323,;CHRNA1,missense_variant,p.Gln56His,ENST00000409219,;CHRNA1,missense_variant,p.Gln56His,ENST00000409542,;AC018890.6,intron_variant,,ENST00000442996,;CHRNA1,missense_variant,p.Gln56His,ENST00000435083,;	A	ENST00000261007	Transcript	missense_variant	235/1980	168/1449	56/482	Q/H	caG/caT		1		-1	CHRNA1	HGNC	HGNC:1955	protein_coding	YES	CCDS33331.1	ENSP00000261007	P02708		UPI000012524E	NM_001039523.2	deleterious(0.01)		2/10		hmmpanther:PTHR18945:SF74,hmmpanther:PTHR18945,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	3	174759509	174759509	C	A	1	0	0	0	0	1	0	0	0	3141	796	28	2		2	CHRNA1	2	174759509	Missense_Mutation	SNP	C	11LU022_TP	4559251	174759509	67434020	160	832											
TTN	0	.	GRCh38	chr2	178611400	178611400	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttggcaaccacattttcAgagatttcagatggctcgct	9	14	8	10	1	3	2	2	0	1	2	4	3	3	2	1	2	1	3	1	2	1	4	novel		11LU022_TP	11LU022_NB	A	A																c.50829T>A	p.=	p.S16943S	ENST00000589042	269/363	441	343	98	340	340	0	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.4;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000627527,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000610290,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000589830,;	T	ENST00000589042	Transcript	synonymous_variant	51054/109224	50829/107976	16943/35991	S	tcT/tcA		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			269/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	3	178611400	178611400	A	T	1	0	0	0	0	0	0	0	1	17245	175	7	4		4	TTN	2	178611400	Silent	SNP	A	11LU022_TP	3851891	178611400	63582129	161	833											
TTN	0	.	GRCh38	chr2	178634453	178634453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattgagaatcattaataaCaagaatatgtttctttccat	17	15	4	5	0	2	2	1	1	1	2	3	3	3	2	1	0	1	1	1	0	7	6	novel		11LU022_TP	11LU022_NB	C	C																c.42328G>T	p.Val14110Phe	p.V14110F	ENST00000589042	230/363	265	207	58	238	238	0	strelka-varscan-mutect	TTN,missense_variant,p.Val14110Phe,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Val12469Phe,ENST00000591111,;TTN,missense_variant,p.Val12469Phe,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Val11542Phe,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Val5045Phe,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Val5237Phe,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Val5170Phe,ENST00000359218,NM_133432.3;TTN,downstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000626954,;TTN-AS1,upstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589907,;TTN-AS1,upstream_gene_variant,,ENST00000418062,;TTN-AS1,downstream_gene_variant,,ENST00000628296,;	A	ENST00000589042	Transcript	missense_variant	42553/109224	42328/107976	14110/35991	V/F	Gtt/Ttt		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			230/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs1230881799	.												A	3	1	3	178634453	178634453	C	A	1	0	0	0	0	1	0	0	0	17245	478	17	2		2	TTN	2	178634453	Missense_Mutation	SNP	C	11LU022_TP	23053	178634453	63559076	162	834											
TTN	0	.	GRCh38	chr2	178689298	178689298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaacaataccttttggtGgtggtggaacttcttcctcc	9	13	10	9	0	1	1	0	0	1	1	3	3	3	2	3	4	3	0	3	4	4	5	rs753808404		11LU022_TP	11LU022_NB	G	G																c.32003C>A	p.Pro10668Gln	p.P10668Q	ENST00000589042	124/363	66	50	16	76	76	0	strelka-varscan-mutect	TTN,missense_variant,p.Pro10668Gln,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Pro10351Gln,ENST00000591111,;TTN,missense_variant,p.Pro10351Gln,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Pro9424Gln,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Pro546Gln,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;	T	ENST00000589042	Transcript	missense_variant	32228/109224	32003/107976	10668/35991	P/Q	cCa/cAa	rs753808404	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			124/363		Low_complexity_(Seg):seg,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10																	MODERATE	1	SNV	5			1										PASS		rs753808404	.												T	3	4	3	178689298	178689298	G	T	1	0	0	0	0	1	0	0	0	17245	1348	47	2		2	TTN	2	178689298	Missense_Mutation	SNP	G	11LU022_TP	54845	178689298	63504231	163	835											
TTN	0	.	GRCh38	chr2	178800576	178800576	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcccggtagaacttcacCacaggtgtagggattccagt	10	9	10	12	1	1	1	1	0	0	1	3	2	3	2	4	3	1	2	4	3	3	4	novel		11LU022_TP	11LU022_NB	C	C																c.402G>T	p.=	p.V134V	ENST00000589042	4/363	75	59	16	88	88	0	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.4;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN,synonymous_variant,p.=,ENST00000360870,NM_133379.4;TTN,downstream_gene_variant,,ENST00000412264,;TTN,non_coding_transcript_exon_variant,,ENST00000470257,;	A	ENST00000589042	Transcript	synonymous_variant	627/109224	402/107976	134/35991	V	gtG/gtT		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			4/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	3	178800576	178800576	C	A	1	0	0	0	0	0	0	0	1	17245	581	21	2		2	TTN	2	178800576	Silent	SNP	C	11LU022_TP	111278	178800576	63392953	164	836											
ITGA4	0	.	GRCh38	chr2	181457711	181457711	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggccgccgtccgggagacGgtgatgctgttgctgtgcct	4	9	17	11	4	0	2	0	1	0	1	1	3	1	2	4	3	3	3	4	3	0	1	novel		11LU022_TP	11LU022_NB	G	G																c.57G>T	p.=	p.T19T	ENST00000397033	1/28	269	215	54	264	263	1	strelka-varscan-mutect	ITGA4,synonymous_variant,p.=,ENST00000397033,NM_000885.4;ITGA4,synonymous_variant,p.=,ENST00000233573,;ITGA4,synonymous_variant,p.=,ENST00000339307,;ITGA4,upstream_gene_variant,,ENST00000478440,;ITGA4,non_coding_transcript_exon_variant,,ENST00000476089,;ITGA4,non_coding_transcript_exon_variant,,ENST00000465522,;ITGA4,upstream_gene_variant,,ENST00000484404,;	T	ENST00000397033	Transcript	synonymous_variant	487/4189	57/3099	19/1032	T	acG/acT		1		1	ITGA4	HGNC	HGNC:6140	protein_coding	YES	CCDS42788.1	ENSP00000380227	P13612		UPI000052D444	NM_000885.4			1/28		hmmpanther:PTHR23220:SF78,hmmpanther:PTHR23220,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		rs1401307012	.												T	2	4	3	181457711	181457711	G	T	1	0	0	0	0	0	0	0	1	7785	1103	39	1		1	ITGA4	2	181457711	Silent	SNP	G	11LU022_TP	2657135	181457711	60735818	165	837											
SSFA2	0	.	GRCh38	chr2	181915288	181915288	+	Missense_Mutation	SNP	G	G	T																															agacaacagttacgtcacttGgtgaagaccttgccacacca																								novel		11LU022_TP	11LU022_NB	G	G																c.1648G>T	p.Gly550Cys	p.G550C	ENST00000431877	11/18	138	102	36	133	133	0	strelka-varscan-mutect	SSFA2,missense_variant,p.Gly550Cys,ENST00000431877,NM_001130445.2;SSFA2,missense_variant,p.Gly550Cys,ENST00000409001,NM_001287503.1,NM_001287504.1;SSFA2,missense_variant,p.Gly550Cys,ENST00000320370,NM_006751.6;SSFA2,missense_variant,p.Gly59Cys,ENST00000409136,;SSFA2,upstream_gene_variant,,ENST00000467172,;SSFA2,upstream_gene_variant,,ENST00000491866,;SSFA2,3_prime_UTR_variant,,ENST00000440623,;SSFA2,3_prime_UTR_variant,,ENST00000416081,;SSFA2,3_prime_UTR_variant,,ENST00000454579,;SSFA2,non_coding_transcript_exon_variant,,ENST00000491720,;	T	ENST00000431877	Transcript	missense_variant	1827/5150	1648/3780	550/1259	G/C	Ggt/Tgt		1		1	SSFA2	HGNC	HGNC:11319	protein_coding	YES	CCDS46467.1	ENSP00000388731	P28290		UPI000019B17A	NM_001130445.2	tolerated(0.07)		11/18		hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	181915288	181915288	G	T	1	0	0	0	0	1	0	0	0	15559	1348	47	2		2	SSFA2	2	181915288	Missense_Mutation	SNP	G	11LU022_TP	457577	181915288	60278241	166	838	20	2									
SSFA2	0	.	GRCh38	chr2	181915289	181915289	+	Missense_Mutation	SNP	G	G	T																															gacaacagttacgtcacttgGtgaagaccttgccacaccaa																								novel		11LU022_TP	11LU022_NB	G	G																c.1649G>T	p.Gly550Val	p.G550V	ENST00000431877	11/18	138	102	36	136	136	0	strelka-varscan-mutect	SSFA2,missense_variant,p.Gly550Val,ENST00000431877,NM_001130445.2;SSFA2,missense_variant,p.Gly550Val,ENST00000409001,NM_001287503.1,NM_001287504.1;SSFA2,missense_variant,p.Gly550Val,ENST00000320370,NM_006751.6;SSFA2,missense_variant,p.Gly59Val,ENST00000409136,;SSFA2,upstream_gene_variant,,ENST00000467172,;SSFA2,upstream_gene_variant,,ENST00000491866,;SSFA2,3_prime_UTR_variant,,ENST00000440623,;SSFA2,3_prime_UTR_variant,,ENST00000416081,;SSFA2,3_prime_UTR_variant,,ENST00000454579,;SSFA2,non_coding_transcript_exon_variant,,ENST00000491720,;	T	ENST00000431877	Transcript	missense_variant	1828/5150	1649/3780	550/1259	G/V	gGt/gTt		1		1	SSFA2	HGNC	HGNC:11319	protein_coding	YES	CCDS46467.1	ENSP00000388731	P28290		UPI000019B17A	NM_001130445.2	tolerated(0.22)		11/18		hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	181915289	181915289	G	T	1	0	0	0	0	1	0	0	0	15559	1261	44	2		2	SSFA2	2	181915289	Missense_Mutation	SNP	G	11LU022_TP	1	181915289	60278240	167	839	20	2									
ZNF804A	0	.	GRCh38	chr2	184933706	184933706	+	Missense_Mutation	SNP	T	T	C																															actccaacgcctgcacaagcTggctgagctaagaaaggaaa																								novel		11LU022_TP	11LU022_NB	T	T																c.359T>C	p.Leu120Pro	p.L120P	ENST00000302277	3/4	177	145	32	180	180	0	strelka-varscan-mutect	ZNF804A,missense_variant,p.Leu120Pro,ENST00000302277,NM_194250.1;ZNF804A,missense_variant,p.Leu35Pro,ENST00000613975,;	C	ENST00000302277	Transcript	missense_variant	953/4690	359/3630	120/1209	L/P	cTg/cCg		1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1	deleterious(0)		3/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	184933706	184933706	T	C	1	0	0	0	0	1	0	0	0	18755	1580	55	5		5	ZNF804A	2	184933706	Missense_Mutation	SNP	T	11LU022_TP	3018417	184933706	57259823	168	840	21	2									
ZNF804A	0	.	GRCh38	chr2	184933707	184933707	+	Silent	SNP	G	G	T																															ctccaacgcctgcacaagctGgctgagctaagaaaggaaac																								novel		11LU022_TP	11LU022_NB	G	G																c.360G>T	p.=	p.L120L	ENST00000302277	3/4	176	144	32	182	181	1	strelka-varscan-mutect	ZNF804A,synonymous_variant,p.=,ENST00000302277,NM_194250.1;ZNF804A,synonymous_variant,p.=,ENST00000613975,;	T	ENST00000302277	Transcript	synonymous_variant	954/4690	360/3630	120/1209	L	ctG/ctT		1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1			3/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	184933707	184933707	G	T	1	0	0	0	0	0	0	0	1	18755	1335	47	2		2	ZNF804A	2	184933707	Silent	SNP	G	11LU022_TP	1	184933707	57259822	169	841	21	2									
ZNF804A	0	.	GRCh38	chr2	184938285	184938285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaaaggaactttagacaGtcacagcctaaatcctatct	15	11	6	9	0	2	2	1	1	1	1	3	3	3	3	2	1	2	0	2	1	6	5			11LU022_TP	11LU022_NB	G	G																c.2889G>T	p.Gln963His	p.Q963H	ENST00000302277	4/4	130	106	24	122	122	0	strelka-varscan-mutect	ZNF804A,missense_variant,p.Gln963His,ENST00000302277,NM_194250.1;ZNF804A,missense_variant,p.Gln878His,ENST00000613975,;	T	ENST00000302277	Transcript	missense_variant	3483/4690	2889/3630	963/1209	Q/H	caG/caT	COSM1013743	1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1	tolerated(0.12)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	3	184938285	184938285	G	T	1	0	0	0	0	1	0	0	0	18755	1020	36	2		2	ZNF804A	2	184938285	Missense_Mutation	SNP	G	11LU022_TP	4578	184938285	57255244	170	842											
FSIP2	0	.	GRCh38	chr2	185797360	185797360	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagccgggaagattcttcTtttttgcaaaaattgaaaaa	14	12	8	7	1	2	2	0	1	2	1	2	3	2	3	2	1	2	1	2	1	5	6	novel		11LU022_TP	11LU022_NB	T	T																c.10491T>C	p.=	p.S3497S	ENST00000343098	16/23	131	98	33	114	114	0	strelka-varscan-mutect	FSIP2,synonymous_variant,p.=,ENST00000343098,NM_173651.2;FSIP2,synonymous_variant,p.=,ENST00000424728,;FSIP2-AS1,intron_variant,,ENST00000436557,;FSIP2-AS1,intron_variant,,ENST00000429929,;FSIP2,synonymous_variant,p.=,ENST00000415915,;	C	ENST00000343098	Transcript	synonymous_variant	10491/21054	10491/20991	3497/6996	S	tcT/tcC		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2			16/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	LOW		SNV	5			1										PASS		.	.												C	2	2	3	185797360	185797360	T	C	1	0	0	0	0	0	0	0	1	5949	1596	56	5		5	FSIP2	2	185797360	Silent	SNP	T	11LU022_TP	859075	185797360	56396169	171	843											
TMEFF2	0	.	GRCh38	chr2	192191942	192191942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattccccatcaaatttacAggtgttggtgtcacagagga	12	11	9	9	0	2	1	2	0	0	1	3	2	3	2	2	3	1	1	2	3	2	4	novel		11LU022_TP	11LU022_NB	A	A																c.220T>A	p.Cys74Ser	p.C74S	ENST00000272771	2/10	190	157	33	172	171	1	strelka-varscan-mutect	TMEFF2,missense_variant,p.Cys74Ser,ENST00000409056,;TMEFF2,missense_variant,p.Cys74Ser,ENST00000392314,NM_001305134.1;TMEFF2,missense_variant,p.Cys74Ser,ENST00000272771,NM_016192.2;	T	ENST00000272771	Transcript	missense_variant	1405/2604	220/1125	74/374	C/S	Tgt/Agt		1		-1	TMEFF2	HGNC	HGNC:11867	protein_coding	YES	CCDS2314.1	ENSP00000272771	Q9UIK5		UPI0000048F19	NM_016192.2	deleterious(0)		2/10		Gene3D:3.30.60.30,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF88,Superfamily_domains:SSF100895																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	192191942	192191942	A	T	1	0	0	0	0	1	0	0	0	16458	188	7	4		4	TMEFF2	2	192191942	Missense_Mutation	SNP	A	11LU022_TP	6394582	192191942	50001587	172	844											
HECW2	0	.	GRCh38	chr2	196307997	196307997	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcagcacctgcggggctggGggagctgtcggtcgctgcca	4	7	18	12	3	0	0	0	0	0	0	2	1	0	1	2	5	5	5	2	5	0	0	novel		11LU022_TP	11LU022_NB	G	G																c.2523C>A	p.=	p.P841P	ENST00000260983	11/29	98	78	20	96	96	0	strelka-varscan-mutect	HECW2,synonymous_variant,p.=,ENST00000260983,NM_020760.2;HECW2,synonymous_variant,p.=,ENST00000409111,NM_001304840.1;	T	ENST00000260983	Transcript	synonymous_variant	2706/11809	2523/4719	841/1572	P	ccC/ccA		1		-1	HECW2	HGNC	HGNC:29853	protein_coding	YES	CCDS33354.1	ENSP00000260983	Q9P2P5		UPI00001A75E8	NM_020760.2			11/29		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF127,Superfamily_domains:SSF51045																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	196307997	196307997	G	T	1	0	0	0	0	0	0	0	1	6925	1219	43	2		2	HECW2	2	196307997	Silent	SNP	G	11LU022_TP	4116055	196307997	45885532	173	845											
MARS2	0	.	GRCh38	chr2	197707051	197707051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcctcagagaggagtcttgGagagctctatttcttgcctc	7	13	11	10	0	4	2	1	0	3	2	5	5	4	3	2	2	3	1	2	2	1	4			11LU022_TP	11LU022_NB	G	G																c.1646G>T	p.Gly549Val	p.G549V	ENST00000282276	1/1	389	298	91	387	386	1	strelka-varscan-mutect	MARS2,missense_variant,p.Gly549Val,ENST00000282276,NM_138395.3;AC011997.1,intron_variant,,ENST00000409845,;	T	ENST00000282276	Transcript	missense_variant	1683/3019	1646/1782	549/593	G/V	gGa/gTa	COSM1014554	1		1	MARS2	HGNC	HGNC:25133	protein_coding	YES	CCDS33358.1	ENSP00000282276	Q96GW9		UPI00000492CE	NM_138395.3	tolerated(0.23)		1/1		Gene3D:1.10.730.10,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF88,Superfamily_domains:SSF47323											1						MODERATE		SNV			1	1										PASS		.	.												T	3	4	3	197707051	197707051	G	T	1	0	0	0	0	1	0	0	0	9242	1174	41	2		2	MARS2	2	197707051	Missense_Mutation	SNP	G	11LU022_TP	1399054	197707051	44486478	174	846											
CD28	0	.	GRCh38	chr2	203706575	203706575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccctaaggggatggtggcgGtggtggtggccgtggatgac	5	8	21	7	2	0	1	0	1	0	0	0	3	0	3	2	9	0	0	2	9	1	1	novel		11LU022_TP	11LU022_NB	G	G																c.52G>T	p.Val18Leu	p.V18L	ENST00000458610	1/4	206	161	45	208	207	1	strelka-varscan-mutect	CD28,missense_variant,p.Val18Leu,ENST00000458610,;CD28,5_prime_UTR_variant,,ENST00000324106,NM_006139.3;CD28,5_prime_UTR_variant,,ENST00000374481,NM_001243078.1;	T	ENST00000458610	Transcript	missense_variant	52/705	52/705	18/234	V/L	Gtg/Ttg		1		1	CD28	HGNC	HGNC:1653	protein_coding			ENSP00000393648	P10747		UPI00001BE8E0		tolerated_low_confidence(1)		1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR11494,hmmpanther:PTHR11494:SF7																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	3	203706575	203706575	G	T	1	0	0	0	0	1	0	0	0	2697	1261	44	2		2	CD28	2	203706575	Missense_Mutation	SNP	G	11LU022_TP	5999524	203706575	38486954	175	847											
PARD3B	0	.	GRCh38	chr2	205301644	205301644	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagaaaaagcgcaaagAggagaatgaagatccagaaa	22	2	12	5	1	0	6	0	1	0	5	1	8	1	6	1	2	1	1	1	2	7	0	novel		11LU022_TP	11LU022_NB	A	A																c.2573A>T	p.Glu858Val	p.E858V	ENST00000406610	18/23	242	202	40	238	238	0	strelka-varscan-mutect	PARD3B,missense_variant,p.Glu858Val,ENST00000406610,NM_001302769.1;PARD3B,missense_variant,p.Glu722Val,ENST00000613457,;PARD3B,missense_variant,p.Glu715Val,ENST00000614500,;PARD3B,missense_variant,p.Glu784Val,ENST00000622699,;PARD3B,missense_variant,p.Glu796Val,ENST00000358768,NM_152526.5;PARD3B,missense_variant,p.Glu789Val,ENST00000351153,NM_057177.6;PARD3B,missense_variant,p.Glu858Val,ENST00000349953,NM_205863.3;PARD3B,missense_variant,p.Glu858Val,ENST00000462231,;PARD3B,downstream_gene_variant,,ENST00000465890,;	T	ENST00000406610	Transcript	missense_variant	2780/8174	2573/3618	858/1205	E/V	gAg/gTg		1		1	PARD3B	HGNC	HGNC:14446	protein_coding	YES	CCDS77511.1	ENSP00000385848	Q8TEW8		UPI0000070178	NM_001302769.1	deleterious(0)		18/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16484,hmmpanther:PTHR16484:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	205301644	205301644	A	T	1	0	0	0	0	1	0	0	0	11524	304	11	4		4	PARD3B	2	205301644	Missense_Mutation	SNP	A	11LU022_TP	1595069	205301644	36891885	176	848											
MAP2	0	.	GRCh38	chr2	209692983	209692983	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttcatcgaaatgccaacGgaagcaaaaaaggatgagtg	16	7	12	6	2	1	1	1	1	0	0	2	4	1	3	1	3	3	2	1	3	6	1	rs147274334		11LU022_TP	11LU022_NB	G	G																c.813G>C	p.=	p.T271T	ENST00000360351	7/15	133	105	28	92	92	0	strelka-varscan-mutect	MAP2,synonymous_variant,p.=,ENST00000360351,NM_002374.3;MAP2,synonymous_variant,p.=,ENST00000447185,;MAP2,synonymous_variant,p.=,ENST00000445941,;MAP2,intron_variant,,ENST00000392194,NM_031845.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,non_coding_transcript_exon_variant,,ENST00000461253,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000481649,;	C	ENST00000360351	Transcript	synonymous_variant	1319/9711	813/5484	271/1827	T	acG/acC	rs147274334	1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3			7/15		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15																	LOW	1	SNV	5			1										PASS		rs147274334	.												C	2	2	3	209692983	209692983	G	C	1	0	0	0	0	0	0	0	1	9157	1103	39	4		4	MAP2	2	209692983	Silent	SNP	G	11LU022_TP	4391339	209692983	32500546	177	849											
UNC80	0	.	GRCh38	chr2	209829341	209829341	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgtagtggacttcttgcAtgctttgctaggattttgta	8	18	10	5	0	1	0	0	0	1	0	1	2	1	2	0	2	3	5	0	2	4	9	novel		11LU022_TP	11LU022_NB	A	A																c.2588A>T	p.His863Leu	p.H863L	ENST00000439458	15/64	176	138	38	142	142	0	strelka-varscan-mutect	UNC80,missense_variant,p.His863Leu,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.His858Leu,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	T	ENST00000439458	Transcript	missense_variant	2668/13562	2588/9777	863/3258	H/L	cAt/cTt		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1	deleterious(0)		15/64		hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1																	MODERATE	1	SNV	5			1										PASS		rs1031704064	.												T	3	4	3	209829341	209829341	A	T	1	0	0	0	0	1	0	0	0	17521	217	8	4		4	UNC80	2	209829341	Missense_Mutation	SNP	A	11LU022_TP	136358	209829341	32364188	178	850											
UNC80	0	.	GRCh38	chr2	209993321	209993321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctattctctttagctaagaCgtcctctactatcacgtcag	9	14	5	13	2	4	1	2	0	2	1	6	1	5	1	2	0	2	1	2	0	5	7	novel		11LU022_TP	11LU022_NB	C	C																c.9205C>A	p.Arg3069Ser	p.R3069S	ENST00000439458	62/64	114	87	27	98	98	0	strelka-mutect	UNC80,missense_variant,p.Arg3069Ser,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Arg3045Ser,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000477924,;	A	ENST00000439458	Transcript	missense_variant	9285/13562	9205/9777	3069/3258	R/S	Cgt/Agt		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1	deleterious_low_confidence(0)		62/64		Low_complexity_(Seg):seg,hmmpanther:PTHR31781:SF1,hmmpanther:PTHR31781																	MODERATE	1	SNV	5			1										PASS		rs1401772812	.												A	3	1	3	209993321	209993321	C	A	1	0	0	0	0	1	0	0	0	17521	536	19	1		1	UNC80	2	209993321	Missense_Mutation	SNP	C	11LU022_TP	163980	209993321	32200208	179	851											
IGFBP5	0	.	GRCh38	chr2	216676802	216676802	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgaaagtccccgtcaacGtactccatgcctggcagctt	9	9	8	15	2	1	1	1	1	0	0	3	1	3	1	4	1	4	3	4	1	3	2	rs77515024		11LU022_TP	11LU022_NB	G	G																c.768C>A	p.Tyr256Ter	p.Y256*	ENST00000233813	4/4	205	175	30	242	240	2	strelka-varscan-mutect	IGFBP5,stop_gained,p.Tyr256Ter,ENST00000233813,NM_000599.3;IGFBP5,downstream_gene_variant,,ENST00000449583,;IGFBP5,downstream_gene_variant,,ENST00000486341,;	T	ENST00000233813	Transcript	stop_gained	1518/6215	768/819	256/272	Y/*	taC/taA	rs77515024	1		-1	IGFBP5	HGNC	HGNC:5474	protein_coding	YES	CCDS2405.1	ENSP00000233813	P24593	A0A024R433	UPI000004E58C	NM_000599.3			4/4		PROSITE_profiles:PS51162,hmmpanther:PTHR11551:SF4,hmmpanther:PTHR11551,Pfam_domain:PF00086,SMART_domains:SM00211,Superfamily_domains:SSF57610,Prints_domain:PR01981																	HIGH	1	SNV	1			1										PASS		rs77515024	.												T	4	4	3	216676802	216676802	G	T	1	0	0	0	0	0	1	0	0	7488	1140	40	1		1	IGFBP5	2	216676802	Nonsense_Mutation	SNP	G	11LU022_TP	6683481	216676802	25516727	180	852											
USP37	0	.	GRCh38	chr2	218488394	218488394	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagagaggtcattaaactgTtctcttttggggataatctc	11	15	9	6	0	3	1	1	0	2	1	5	3	3	2	0	3	1	1	0	3	4	6	novel		11LU022_TP	11LU022_NB	T	T																c.1500A>G	p.=	p.E500E	ENST00000258399	15/26	141	114	27	145	145	0	strelka-varscan-mutect	USP37,synonymous_variant,p.=,ENST00000258399,NM_020935.2;USP37,synonymous_variant,p.=,ENST00000454775,;USP37,synonymous_variant,p.=,ENST00000415516,;USP37,synonymous_variant,p.=,ENST00000418019,;USP37,upstream_gene_variant,,ENST00000475553,;	C	ENST00000258399	Transcript	synonymous_variant	1913/8032	1500/2940	500/979	E	gaA/gaG		1		-1	USP37	HGNC	HGNC:20063	protein_coding	YES	CCDS2418.1	ENSP00000258399	Q86T82		UPI0000160023	NM_020935.2			15/26		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF125,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	3	218488394	218488394	T	C	1	0	0	0	0	0	0	0	1	17610	1722	60	5		5	USP37	2	218488394	Silent	SNP	T	11LU022_TP	1811592	218488394	23705135	181	853											
PTPRN	0	.	GRCh38	chr2	219299358	219299358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgctcattgtgccggatgCggaaggtgagggctggtccc	5	10	16	10	2	2	1	1	1	1	0	3	3	3	3	2	5	3	2	2	5	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.1550G>A	p.Arg517His	p.R517H	ENST00000295718	11/23	254	233	21	336	336	0	strelka-varscan-mutect	PTPRN,missense_variant,p.Arg517His,ENST00000295718,NM_002846.3;PTPRN,missense_variant,p.Arg488His,ENST00000409251,NM_001199763.1;PTPRN,missense_variant,p.Arg427His,ENST00000423636,NM_001199764.1;PTPRN,upstream_gene_variant,,ENST00000443981,;PTPRN,downstream_gene_variant,,ENST00000446182,;PTPRN,downstream_gene_variant,,ENST00000440552,;PTPRN,downstream_gene_variant,,ENST00000412847,;PTPRN,downstream_gene_variant,,ENST00000442029,;PTPRN,downstream_gene_variant,,ENST00000451506,;AC114803.3,intron_variant,,ENST00000417355,;PTPRN,upstream_gene_variant,,ENST00000497977,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,non_coding_transcript_exon_variant,,ENST00000489650,;PTPRN,non_coding_transcript_exon_variant,,ENST00000486480,;PTPRN,downstream_gene_variant,,ENST00000606213,;PTPRN,downstream_gene_variant,,ENST00000476930,;	T	ENST00000295718	Transcript	missense_variant	1791/3784	1550/2940	517/979	R/H	cGc/cAc		1		-1	PTPRN	HGNC	HGNC:9676	protein_coding	YES	CCDS2440.1	ENSP00000295718	Q16849		UPI0000132999	NM_002846.3	deleterious(0)		11/23		Pfam_domain:PF11548,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2																	MODERATE	1	SNV	1			1										PASS		rs910099933	.												T	3	4	3	219299358	219299358	C	T	1	0	0	0	0	1	0	0	0	12961	768	27	1		1	PTPRN	2	219299358	Missense_Mutation	SNP	C	11LU022_TP	810964	219299358	22894171	182	854											
SPEG	0	.	GRCh38	chr2	219449053	219449053	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccccggtcggaagcgggAgcccccggcgcaggccgtgc	5	2	16	18	6	0	0	0	0	0	0	1	2	0	2	6	5	3	1	6	5	1	0	novel		11LU022_TP	11LU022_NB	A	A																c.1895A>G	p.Glu632Gly	p.E632G	ENST00000312358	4/41	79	65	14	91	91	0	strelka-varscan-mutect	SPEG,missense_variant,p.Glu632Gly,ENST00000312358,NM_005876.4;SPEG,missense_variant,p.Glu528Gly,ENST00000396698,;SPEG,downstream_gene_variant,,ENST00000431523,;SPEG,downstream_gene_variant,,ENST00000435853,;SPEG,downstream_gene_variant,,ENST00000451076,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,upstream_gene_variant,,ENST00000462545,;SPEG,downstream_gene_variant,,ENST00000491248,;SPEG,upstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000497065,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,intron_variant,,ENST00000409595,;SPEG,downstream_gene_variant,,ENST00000452101,;SPEG,downstream_gene_variant,,ENST00000420132,;SPEG,downstream_gene_variant,,ENST00000403148,;	G	ENST00000312358	Transcript	missense_variant	2027/10782	1895/9804	632/3267	E/G	gAg/gGg		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	deleterious(0.03)		4/41																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	3	219449053	219449053	A	G	1	0	0	0	0	1	0	0	0	15387	304	11	5		5	SPEG	2	219449053	Missense_Mutation	SNP	A	11LU022_TP	149695	219449053	22744476	183	855											
SLC4A3	0	.	GRCh38	chr2	219636317	219636317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcaggagagaagaccgaggGgctgatgggcgtgtccgagc	9	4	20	8	3	0	3	0	1	0	2	1	7	1	4	2	5	1	2	2	5	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.2288G>T	p.Gly763Val	p.G763V	ENST00000273063	15/23	275	224	51	373	373	0	strelka-varscan-mutect	SLC4A3,missense_variant,p.Gly736Val,ENST00000358055,NM_005070.3;SLC4A3,missense_variant,p.Gly763Val,ENST00000273063,NM_001326559.1,NM_201574.2;SLC4A3,missense_variant,p.Gly736Val,ENST00000373760,;SLC4A3,missense_variant,p.Gly736Val,ENST00000317151,;SLC4A3,downstream_gene_variant,,ENST00000413743,;SLC4A3,downstream_gene_variant,,ENST00000497589,;SLC4A3,3_prime_UTR_variant,,ENST00000425141,;SLC4A3,3_prime_UTR_variant,,ENST00000416910,;SLC4A3,downstream_gene_variant,,ENST00000444906,;	T	ENST00000273063	Transcript	missense_variant	2502/4246	2288/3780	763/1259	G/V	gGg/gTg		1		1	SLC4A3	HGNC	HGNC:11029	protein_coding	YES	CCDS2446.1	ENSP00000273063	P48751		UPI000022BE50	NM_001326559.1,NM_201574.2	deleterious(0)		15/23		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF15,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	219636317	219636317	G	T	1	0	0	0	0	1	0	0	0	14932	1232	43	2		2	SLC4A3	2	219636317	Missense_Mutation	SNP	G	11LU022_TP	187264	219636317	22557212	184	856											
CUL3	0	.	GRCh38	chr2	224503726	224503726	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaagtctccttgccaagtGttgtttataataacgttcaa	12	14	8	7	1	2	1	1	0	1	1	3	2	2	1	2	0	2	3	2	0	6	7	novel		11LU022_TP	11LU022_NB	G	G																c.1303C>G	p.His435Asp	p.H435D	ENST00000264414	9/16	49	41	8	92	92	0	strelka-varscan-mutect	CUL3,missense_variant,p.His435Asp,ENST00000264414,NM_003590.4;CUL3,missense_variant,p.His369Asp,ENST00000344951,NM_001257197.1;CUL3,missense_variant,p.His411Asp,ENST00000409777,;CUL3,missense_variant,p.His411Asp,ENST00000409096,NM_001257198.1;CUL3,missense_variant,p.Asn9Lys,ENST00000617432,;CUL3,non_coding_transcript_exon_variant,,ENST00000481135,;CUL3,upstream_gene_variant,,ENST00000487558,;CUL3,downstream_gene_variant,,ENST00000484081,;AC073052.1,upstream_gene_variant,,ENST00000440417,;	C	ENST00000264414	Transcript	missense_variant	1642/6741	1303/2307	435/768	H/D	Cac/Gac		1		-1	CUL3	HGNC	HGNC:2553	protein_coding	YES	CCDS2462.1	ENSP00000264414	Q13618	A0A024R475	UPI0000001C83	NM_003590.4	deleterious(0)		9/16		PROSITE_profiles:PS50069,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF85,Pfam_domain:PF00888,Gene3D:1.20.1310.10,SMART_domains:SM00182,Superfamily_domains:SSF75632																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	224503726	224503726	G	C	1	0	0	0	0	1	0	0	0	3866	1377	48	4		4	CUL3	2	224503726	Missense_Mutation	SNP	G	11LU022_TP	4867409	224503726	17689803	185	857											
DOCK10	0	.	GRCh38	chr2	224862689	224862689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaagcaaaaggcatacGgtattttcccaatttgctgc	11	11	8	11	1	0	0	0	0	0	0	1	0	1	0	2	2	5	4	2	2	6	5	rs750806425		11LU022_TP	11LU022_NB	G	G																c.1660C>A	p.Arg554Ser	p.R554S	ENST00000258390	14/56	178	142	36	147	147	0	strelka-varscan-mutect	DOCK10,missense_variant,p.Arg548Ser,ENST00000409592,NM_001290263.1;DOCK10,missense_variant,p.Arg554Ser,ENST00000258390,NM_014689.2;DOCK10,non_coding_transcript_exon_variant,,ENST00000492369,;	T	ENST00000258390	Transcript	missense_variant	1728/7260	1660/6561	554/2186	R/S	Cgt/Agt	rs750806425,COSM3962452,COSM3962453	1		-1	DOCK10	HGNC	HGNC:23479	protein_coding	YES	CCDS46528.1	ENSP00000258390	Q96BY6		UPI000021D2A7	NM_014689.2	deleterious(0.01)		14/56		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF71											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs750806425	.												T	3	4	3	224862689	224862689	G	T	1	0	0	0	0	1	0	0	0	4500	1116	39	1		1	DOCK10	2	224862689	Missense_Mutation	SNP	G	11LU022_TP	358963	224862689	17330840	186	858											
MFF	0	.	GRCh38	chr2	227330821	227330821	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgctagtgtgataatgcaAgttccggagaggattgttgt	11	13	13	4	1	0	2	0	1	0	1	1	4	1	3	1	2	2	4	1	2	4	5	rs138259047		11LU022_TP	11LU022_NB	A	A																c.234A>T	p.Gln78His	p.Q78H	ENST00000353339	4/11	228	171	57	244	244	0	strelka-varscan-mutect	MFF,missense_variant,p.Gln78His,ENST00000353339,NM_001277061.1,NM_020194.5;MFF,missense_variant,p.Gln52His,ENST00000304593,NM_001277062.1,NM_001277068.1;MFF,missense_variant,p.Gln52His,ENST00000337110,NM_001277063.1;MFF,missense_variant,p.Gln52His,ENST00000349901,NM_001277064.1;MFF,missense_variant,p.Gln2His,ENST00000392059,NM_001277067.1;MFF,missense_variant,p.Gln52His,ENST00000409565,NM_001277066.1;MFF,missense_variant,p.Gln52His,ENST00000409616,;MFF,missense_variant,p.Gln52His,ENST00000354503,NM_001277065.1;MFF,missense_variant,p.Gln52His,ENST00000452930,;MFF,missense_variant,p.Gln52His,ENST00000418961,;MFF,missense_variant,p.Gln52His,ENST00000525195,;MFF,intron_variant,,ENST00000524634,;MFF,intron_variant,,ENST00000531278,;MFF,intron_variant,,ENST00000534203,;MFF,intron_variant,,ENST00000530359,;MFF,downstream_gene_variant,,ENST00000423098,;MFF,downstream_gene_variant,,ENST00000443428,;MFF,downstream_gene_variant,,ENST00000436237,;MFF,non_coding_transcript_exon_variant,,ENST00000436791,;MFF,intron_variant,,ENST00000476924,;MFF,non_coding_transcript_exon_variant,,ENST00000460756,;MFF,non_coding_transcript_exon_variant,,ENST00000489696,;MFF,intron_variant,,ENST00000470090,;	T	ENST00000353339	Transcript	missense_variant	675/2186	234/1029	78/342	Q/H	caA/caT	rs138259047	1		1	MFF	HGNC	HGNC:24858	protein_coding	YES	CCDS2465.1	ENSP00000302037	Q9GZY8	A0A024R491	UPI0000072C36	NM_001277061.1,NM_020194.5	tolerated(0.11)		4/11		Pfam_domain:PF05644,hmmpanther:PTHR16501																	MODERATE	1	SNV	5			1										PASS		rs138259047	.												T	3	4	3	227330821	227330821	A	T	1	0	0	0	0	1	0	0	0	9472	69	3	4		4	MFF	2	227330821	Missense_Mutation	SNP	A	11LU022_TP	2468132	227330821	14862708	187	859											
ECEL1	0	.	GRCh38	chr2	232481091	232481091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaggcaggccgctcacGtggtaggccagcttgaggcc	8	5	15	13	2	1	1	1	1	0	0	1	1	1	1	3	5	2	5	3	5	1	2	rs201375083		11LU022_TP	11LU022_NB	G	G																c.2055C>A	p.His685Gln	p.H685Q	ENST00000304546	15/18	228	185	43	240	240	0	strelka-varscan-mutect	ECEL1,missense_variant,p.His685Gln,ENST00000304546,NM_004826.3;ECEL1,missense_variant,p.His683Gln,ENST00000409941,NM_001290787.1;ECEL1,intron_variant,,ENST00000411860,;ECEL1,splice_region_variant,,ENST00000482346,;	T	ENST00000304546	Transcript	missense_variant,splice_region_variant	2266/2865	2055/2328	685/775	H/Q	caC/caA	rs201375083	1		-1	ECEL1	HGNC	HGNC:3147	protein_coding	YES	CCDS2493.1	ENSP00000302051	O95672		UPI000013E997	NM_004826.3	deleterious(0.01)		15/18		Gene3D:3.40.390.10,Pfam_domain:PF01431,hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF108,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		rs201375083	.												T	3	4	3	232481091	232481091	G	T	1	0	0	0	0	1	0	0	0	4717	1159	40	1		1	ECEL1	2	232481091	Missense_Mutation	SNP	G	11LU022_TP	5150270	232481091	9712438	188	860											
ATG16L1	0	.	GRCh38	chr2	233256115	233256115	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaatagataacaaattgctGgaaaagtcagatcttcattc	16	13	6	6	0	3	2	2	0	1	2	4	3	3	3	0	1	2	1	0	1	6	6	novel		11LU022_TP	11LU022_NB	G	G																c.129G>T	p.=	p.L43L	ENST00000392017	2/18	195	155	40	238	237	1	strelka-varscan-mutect	ATG16L1,synonymous_variant,p.=,ENST00000392017,NM_001190266.1,NM_001190267.1,NM_030803.6;ATG16L1,synonymous_variant,p.=,ENST00000392018,;ATG16L1,synonymous_variant,p.=,ENST00000392020,NM_017974.3;ATG16L1,synonymous_variant,p.=,ENST00000347464,NM_198890.2;ATG16L1,synonymous_variant,p.=,ENST00000373525,;ATG16L1,synonymous_variant,p.=,ENST00000444735,;ATG16L1,synonymous_variant,p.=,ENST00000417017,;ATG16L1,synonymous_variant,p.=,ENST00000419681,;ATG16L1,5_prime_UTR_variant,,ENST00000431917,;ATG16L1,3_prime_UTR_variant,,ENST00000392021,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000474148,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000479942,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000485623,;	T	ENST00000392017	Transcript	synonymous_variant	386/3405	129/1824	43/607	L	ctG/ctT		1		1	ATG16L1	HGNC	HGNC:21498	protein_coding	YES	CCDS2503.2	ENSP00000375872	Q676U5		UPI0000208D0D	NM_001190266.1,NM_001190267.1,NM_030803.6			2/18		hmmpanther:PTHR19878:SF6,hmmpanther:PTHR19878,Pfam_domain:PF08614																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	233256115	233256115	G	T	1	0	0	0	0	0	0	0	1	1243	1335	47	2		2	ATG16L1	2	233256115	Silent	SNP	G	11LU022_TP	775024	233256115	8937414	189	861											
ATG16L1	0	.	GRCh38	chr2	233265087	233265087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggtcaccagatggatGgctgagaaagcccaggaagc	12	5	15	9	0	1	2	1	1	0	2	1	6	1	4	2	4	3	2	2	4	2	0	novel		11LU022_TP	11LU022_NB	G	G																c.585G>T	p.Met195Ile	p.M195I	ENST00000392017	5/18	374	288	86	361	360	1	strelka-varscan-mutect	ATG16L1,missense_variant,p.Met195Ile,ENST00000392017,NM_001190266.1,NM_001190267.1,NM_030803.6;ATG16L1,missense_variant,p.Met195Ile,ENST00000392018,;ATG16L1,missense_variant,p.Met195Ile,ENST00000392020,NM_017974.3;ATG16L1,intron_variant,,ENST00000347464,NM_198890.2;ATG16L1,intron_variant,,ENST00000373525,;ATG16L1,intron_variant,,ENST00000444735,;ATG16L1,intron_variant,,ENST00000417017,;ATG16L1,intron_variant,,ENST00000419681,;ATG16L1,downstream_gene_variant,,ENST00000431917,;ATG16L1,upstream_gene_variant,,ENST00000498620,;ATG16L1,3_prime_UTR_variant,,ENST00000392021,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000474148,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000479942,;ATG16L1,downstream_gene_variant,,ENST00000485623,;	T	ENST00000392017	Transcript	missense_variant	842/3405	585/1824	195/607	M/I	atG/atT		1		1	ATG16L1	HGNC	HGNC:21498	protein_coding	YES	CCDS2503.2	ENSP00000375872	Q676U5		UPI0000208D0D	NM_001190266.1,NM_001190267.1,NM_030803.6	tolerated(0.09)		5/18		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19878:SF6,hmmpanther:PTHR19878,Pfam_domain:PF08614																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	233265087	233265087	G	T	1	0	0	0	0	1	0	0	0	1243	1348	47	2		2	ATG16L1	2	233265087	Missense_Mutation	SNP	G	11LU022_TP	8972	233265087	8928442	190	862											
KIF1A	0	.	GRCh38	chr2	240719164	240719164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgacgtgtgcggctccaGgaagtgcaggtaccccttct	6	9	13	13	2	1	1	0	1	1	0	2	2	2	2	4	3	3	3	4	3	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.5056C>A	p.Leu1686Met	p.L1686M	ENST00000498729	47/49	153	127	26	169	168	1	strelka-varscan-mutect	KIF1A,missense_variant,p.Leu1686Met,ENST00000498729,NM_001244008.1;KIF1A,missense_variant,p.Leu1585Met,ENST00000320389,NM_004321.6;KIF1A,downstream_gene_variant,,ENST00000404283,;KIF1A,downstream_gene_variant,,ENST00000431776,;KIF1A,non_coding_transcript_exon_variant,,ENST00000460788,;KIF1A,non_coding_transcript_exon_variant,,ENST00000492812,;KIF1A,non_coding_transcript_exon_variant,,ENST00000488776,;KIF1A,downstream_gene_variant,,ENST00000465813,;	T	ENST00000498729	Transcript	missense_variant	5303/9223	5056/5376	1686/1791	L/M	Ctg/Atg		1		-1	KIF1A	HGNC	HGNC:888	protein_coding	YES	CCDS58757.1	ENSP00000438388	Q12756		UPI0002065B81	NM_001244008.1	tolerated(0.1)		47/49		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		rs1015341506	.												T	3	4	3	240719164	240719164	G	T	1	0	0	0	0	1	0	0	0	8147	991	35	2		2	KIF1A	2	240719164	Missense_Mutation	SNP	G	11LU022_TP	7454077	240719164	1474365	191	863											
CROCC2	0	.	GRCh38	chr2	240931060	240931060	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accctggggcagcagcttcgGgacaaggctggggagatgct	8	6	17	10	1	0	1	0	0	0	1	1	3	0	2	1	6	3	5	1	6	1	1	novel		11LU022_TP	11LU022_NB	G	G																c.879G>T	p.=	p.R293R	ENST00000443866	7/32	207	170	37	240	240	0	strelka-varscan-mutect	CROCC2,synonymous_variant,p.=,ENST00000443866,;CROCC2,upstream_gene_variant,,ENST00000477311,;	T	ENST00000443866	Transcript	synonymous_variant	1063/5382	879/4968	293/1655	R	cgG/cgT		1		1	CROCC2	HGNC	HGNC:51677	protein_coding	YES		ENSP00000397968	H7BZ55		UPI0004F2364A				7/32		hmmpanther:PTHR23159:SF16,hmmpanther:PTHR23159																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	3	240931060	240931060	G	T	1	0	0	0	0	0	0	0	1	3695	1219	43	2		2	CROCC2	2	240931060	Silent	SNP	G	11LU022_TP	211896	240931060	1262469	192	864											
GRM7	0	.	GRCh38	chr3	6861853	6861853	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagtagttggagtgattggGgcttcggggagttcggtctc	7	12	17	5	2	1	1	0	1	1	0	4	3	1	3	0	6	0	4	0	6	2	5			11LU022_TP	11LU022_NB	G	G																c.465G>T	p.=	p.G155G	ENST00000357716	1/10	106	79	27	157	155	2	strelka-varscan-mutect	GRM7,synonymous_variant,p.=,ENST00000486284,NM_181874.2;GRM7,synonymous_variant,p.=,ENST00000357716,NM_000844.3;GRM7,synonymous_variant,p.=,ENST00000389336,;GRM7,intron_variant,,ENST00000448328,;GRM7,synonymous_variant,p.=,ENST00000467425,;GRM7,synonymous_variant,p.=,ENST00000440923,;GRM7,synonymous_variant,p.=,ENST00000389335,;GRM7,intron_variant,,ENST00000443259,;GRM7,upstream_gene_variant,,ENST00000435689,;	T	ENST00000357716	Transcript	synonymous_variant	739/4127	465/2748	155/915	G	ggG/ggT	COSM4549135,COSM4549136,COSM4549137	1		1	GRM7	HGNC	HGNC:4599	protein_coding	YES	CCDS43042.1	ENSP00000350348	Q14831		UPI000004A7E3	NM_000844.3			1/10		Low_complexity_(Seg):seg,hmmpanther:PTHR24060:SF98,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR00248											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												T	2	4	3	6861853	6861853	G	T	1	0	0	0	0	0	0	0	1	6684	1219	43	2		2	GRM7	3	6861853	Silent	SNP	G	11LU022_TP		6861853	191433706	193	865											
GRM7	0	.	GRCh38	chr3	7298784	7298784	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctcctggacacccccaaCtccagggccgtcgtgatttt	7	9	9	16	2	0	1	0	1	0	0	3	2	2	2	5	2	2	1	5	2	1	2			11LU022_TP	11LU022_NB	C	C																c.837C>A	p.Asn279Lys	p.N279K	ENST00000357716	3/10	191	146	45	226	226	0	strelka-varscan-mutect	GRM7,missense_variant,p.Asn279Lys,ENST00000486284,NM_181874.2;GRM7,missense_variant,p.Asn279Lys,ENST00000357716,NM_000844.3;GRM7,missense_variant,p.Asn279Lys,ENST00000389336,;GRM7,missense_variant,p.Asn34Lys,ENST00000402647,;GRM7,missense_variant,p.Asn71Lys,ENST00000448328,;GRM7,missense_variant,p.Asn279Lys,ENST00000467425,;GRM7,missense_variant,p.Asn279Lys,ENST00000440923,;GRM7,missense_variant,p.Asn279Lys,ENST00000389335,;GRM7,3_prime_UTR_variant,,ENST00000435689,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;GRM7,non_coding_transcript_exon_variant,,ENST00000461677,;	A	ENST00000357716	Transcript	missense_variant	1111/4127	837/2748	279/915	N/K	aaC/aaA	COSM3767546,COSM3767547,COSM3767548	1		1	GRM7	HGNC	HGNC:4599	protein_coding	YES	CCDS43042.1	ENSP00000350348	Q14831		UPI000004A7E3	NM_000844.3	deleterious(0.05)		3/10		hmmpanther:PTHR24060:SF98,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR00593											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	3	7298784	7298784	C	A	1	0	0	0	0	1	0	0	0	6684	564	20	2		2	GRM7	3	7298784	Missense_Mutation	SNP	C	11LU022_TP	436931	7298784	190996775	194	866											
SETD5	0	.	GRCh38	chr3	9473296	9473296	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaaaattctgctggtgggGgaggtgactctgcacagagc	10	8	16	7	0	2	2	0	1	2	1	2	4	2	4	0	5	3	2	0	5	2	1	rs745536349		11LU022_TP	11LU022_NB	G	G																c.3256G>T	p.Gly1086Ter	p.G1086*	ENST00000402198	20/23	172	126	46	233	233	0	strelka-varscan-mutect	SETD5,stop_gained,p.Gly1086Ter,ENST00000402198,NM_001080517.2;SETD5,stop_gained,p.Gly1086Ter,ENST00000406341,;SETD5,stop_gained,p.Gly1105Ter,ENST00000407969,;SETD5,stop_gained,p.Gly988Ter,ENST00000302463,NM_001292043.1;SETD5,stop_gained,p.Gly754Ter,ENST00000399686,;SETD5,stop_gained,p.Gly417Ter,ENST00000421188,;SETD5,upstream_gene_variant,,ENST00000479538,;SETD5,3_prime_UTR_variant,,ENST00000413704,;SETD5,non_coding_transcript_exon_variant,,ENST00000493918,;SETD5,non_coding_transcript_exon_variant,,ENST00000466242,;SETD5,non_coding_transcript_exon_variant,,ENST00000486465,;SETD5,non_coding_transcript_exon_variant,,ENST00000492939,;SETD5,upstream_gene_variant,,ENST00000459941,;SETD5,upstream_gene_variant,,ENST00000466826,;	T	ENST00000402198	Transcript	stop_gained	3691/6827	3256/4329	1086/1442	G/*	Gga/Tga	rs745536349	1		1	SETD5	HGNC	HGNC:25566	protein_coding	YES	CCDS46741.1	ENSP00000385852	Q9C0A6		UPI0000411FEE	NM_001080517.2			20/23		Low_complexity_(Seg):seg																	HIGH	1	SNV	5			1										PASS		rs745536349	.												T	4	4	3	9473296	9473296	G	T	1	0	0	0	0	0	1	0	0	14412	1233	43	2		2	SETD5	3	9473296	Nonsense_Mutation	SNP	G	11LU022_TP	2174512	9473296	188822263	195	867											
NEK10	0	.	GRCh38	chr3	27162563	27162563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgggccctgagcatgtGgggtggcactttcagaagca	9	9	15	8	0	1	2	1	1	0	1	1	2	1	2	1	4	2	3	1	4	2	1	rs773747733		11LU022_TP	11LU022_NB	G	G																c.2908C>A	p.His970Asn	p.H970N	ENST00000429845	32/39	161	119	42	164	164	0	strelka-varscan-mutect	NEK10,missense_variant,p.His970Asn,ENST00000429845,NM_152534.4;NEK10,missense_variant,p.His282Asn,ENST00000295720,NM_001304384.1;NEK10,missense_variant,p.His282Asn,ENST00000383771,NM_001031741.3;NEK10,intron_variant,,ENST00000383770,;NEK10,intron_variant,,ENST00000498182,;NEK10,non_coding_transcript_exon_variant,,ENST00000574215,;	T	ENST00000429845	Transcript	missense_variant	3271/4250	2908/3519	970/1172	H/N	Cac/Aac	rs773747733	1		-1	NEK10	HGNC	HGNC:18592	protein_coding			ENSP00000395849	Q6ZWH5		UPI0000EE2A86	NM_152534.4	tolerated(0.31)		32/39																			MODERATE		SNV	5			1										PASS		rs773747733	.												T	3	4	3	27162563	27162563	G	T	1	0	0	0	0	1	0	0	0	10350	1348	47	2		2	NEK10	3	27162563	Missense_Mutation	SNP	G	11LU022_TP	17689267	27162563	171132996	196	868											
EOMES	0	.	GRCh38	chr3	27721848	27721848	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctccgacccctgaggaccGggggactggaggtagtaccg	8	5	16	12	3	0	1	0	1	0	0	1	5	1	4	5	5	2	3	5	5	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.447C>A	p.=	p.P149P	ENST00000449599	1/6	131	99	32	172	172	0	strelka-varscan-mutect	EOMES,synonymous_variant,p.=,ENST00000295743,NM_005442.3;EOMES,synonymous_variant,p.=,ENST00000449599,NM_001278182.1;EOMES,intron_variant,,ENST00000461503,NM_001278183.1;	T	ENST00000449599	Transcript	synonymous_variant	465/2829	447/2118	149/705	P	ccC/ccA		1		-1	EOMES	HGNC	HGNC:3372	protein_coding	YES	CCDS63585.1	ENSP00000388620	O95936		UPI00004DEF82	NM_001278182.1			1/6		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF13																	LOW	1	SNV	1			1										PASS		rs1455492414	.												T	2	4	3	27721848	27721848	G	T	1	0	0	0	0	0	0	0	1	4993	1103	39	1		1	EOMES	3	27721848	Silent	SNP	G	11LU022_TP	559285	27721848	170573711	197	869											
GADL1	0	.	GRCh38	chr3	30850041	30850041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcgaaccagacagcccCttttccttaatatcaggaca	11	10	7	13	1	1	1	1	0	0	1	2	3	2	2	4	2	2	0	4	2	3	5	novel		11LU022_TP	11LU022_NB	C	C																c.606G>T	p.Lys202Asn	p.K202N	ENST00000282538	6/15	148	114	34	235	235	0	strelka-varscan-mutect	GADL1,missense_variant,p.Lys202Asn,ENST00000454381,;GADL1,missense_variant,p.Lys202Asn,ENST00000282538,NM_207359.2;	A	ENST00000282538	Transcript	missense_variant	757/3759	606/1566	202/521	K/N	aaG/aaT		1		-1	GADL1	HGNC	HGNC:27949	protein_coding	YES	CCDS2649.2	ENSP00000282538	Q6ZQY3		UPI000022BF90	NM_207359.2	tolerated(0.1)		6/15		hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF95,Gene3D:3.40.640.10,Pfam_domain:PF00282,Superfamily_domains:SSF53383																	MODERATE	1	SNV	5			1										PASS		rs1241661514	.												A	3	1	3	30850041	30850041	C	A	1	0	0	0	0	1	0	0	0	6056	680	24	2		2	GADL1	3	30850041	Missense_Mutation	SNP	C	11LU022_TP	3128193	30850041	167445518	198	870											
SCN11A	0	.	GRCh38	chr3	38910180	38910180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggattaattttggtgtgCttacattcatattgtatgga	10	18	9	4	0	2	0	2	0	0	0	2	2	2	2	0	3	2	2	0	3	4	8	novel		11LU022_TP	11LU022_NB	C	C																c.987G>T	p.Lys329Asn	p.K329N	ENST00000302328	8/26	88	69	19	112	112	0	strelka-mutect	SCN11A,missense_variant,p.Lys329Asn,ENST00000302328,NM_014139.2,NM_001287223.1;SCN11A,missense_variant,p.Lys329Asn,ENST00000444237,;SCN11A,missense_variant,p.Lys329Asn,ENST00000456224,;	A	ENST00000302328	Transcript	missense_variant	1186/6500	987/5376	329/1791	K/N	aaG/aaT		1		-1	SCN11A	HGNC	HGNC:10583	protein_coding	YES	CCDS33737.1	ENSP00000307599	Q9UI33		UPI000006CCD7	NM_014139.2,NM_001287223.1	tolerated(0.69)		8/26		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF210																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	38910180	38910180	C	A	1	0	0	0	0	1	0	0	0	14182	796	28	2		2	SCN11A	3	38910180	Missense_Mutation	SNP	C	11LU022_TP	8060139	38910180	159385379	199	871											
CACNA2D2	0	.	GRCh38	chr3	50367444	50367444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggttatccaggctgcggCggtagaagctggcattgaag	8	9	16	8	3	0	2	0	1	0	1	1	2	1	2	1	5	2	5	1	5	4	3	rs779297579		11LU022_TP	11LU022_NB	C	C																c.2372G>T	p.Arg791Leu	p.R791L	ENST00000479441	28/39	225	163	62	389	389	0	strelka-varscan-mutect	CACNA2D2,missense_variant,p.Arg784Leu,ENST00000266039,NM_001005505.2;CACNA2D2,missense_variant,p.Arg791Leu,ENST00000423994,;CACNA2D2,missense_variant,p.Arg784Leu,ENST00000429770,;CACNA2D2,missense_variant,p.Arg715Leu,ENST00000360963,NM_001291101.1;CACNA2D2,missense_variant,p.Arg784Leu,ENST00000424201,NM_006030.3;CACNA2D2,missense_variant,p.Arg791Leu,ENST00000479441,NM_001174051.2;XXcos-LUCA11.5,intron_variant,,ENST00000606589,;CYB561D2,non_coding_transcript_exon_variant,,ENST00000607583,;CYB561D2,intron_variant,,ENST00000607121,;CYB561D2,intron_variant,,ENST00000606665,;CYB561D2,intron_variant,,ENST00000606259,;CYB561D2,intron_variant,,ENST00000607088,;CYB561D2,upstream_gene_variant,,ENST00000607362,;CACNA2D2,upstream_gene_variant,,ENST00000483620,;	A	ENST00000479441	Transcript	missense_variant	2372/3453	2372/3453	791/1150	R/L	cGc/cTc	rs779297579	1		-1	CACNA2D2	HGNC	HGNC:1400	protein_coding	YES	CCDS54588.1	ENSP00000418081	Q9NY47		UPI0000E5A6AF	NM_001174051.2	deleterious(0)		28/39		Pfam_domain:PF08473,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF7																	MODERATE	1	SNV	1			1										PASS		rs779297579	.												A	3	1	3	50367444	50367444	C	A	1	0	0	0	0	1	0	0	0	2237	768	27	1		1	CACNA2D2	3	50367444	Missense_Mutation	SNP	C	11LU022_TP	11457264	50367444	147928115	200	872											
C3orf14	0	.	GRCh38	chr3	62320475	62320475	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagctttgattaaagatgActtccttgtttgctcaagaa	12	14	8	7	0	1	4	1	2	0	2	2	5	2	4	1	0	2	3	1	0	4	5	novel		11LU022_TP	11LU022_NB	A	A																c.4A>G	p.Thr2Ala	p.T2A	ENST00000494481	3/6	71	57	14	158	158	0	strelka-mutect	C3orf14,missense_variant,p.Thr2Ala,ENST00000494481,NM_020685.4;C3orf14,missense_variant,p.Thr2Ala,ENST00000542214,;C3orf14,missense_variant,p.Thr2Ala,ENST00000232519,NM_001291942.1;C3orf14,missense_variant,p.Thr2Ala,ENST00000462069,NM_001291941.1;C3orf14,missense_variant,p.Thr2Ala,ENST00000465142,;PTPRG-AS1,intron_variant,,ENST00000490916,;PTPRG-AS1,intron_variant,,ENST00000495542,;PTPRG-AS1,upstream_gene_variant,,ENST00000474795,;PTPRG-AS1,upstream_gene_variant,,ENST00000462497,;PTPRG-AS1,upstream_gene_variant,,ENST00000466893,;PTPRG-AS1,upstream_gene_variant,,ENST00000475371,;PTPRG-AS1,upstream_gene_variant,,ENST00000479018,;PTPRG-AS1,upstream_gene_variant,,ENST00000498655,;C3orf14,non_coding_transcript_exon_variant,,ENST00000486169,;C3orf14,non_coding_transcript_exon_variant,,ENST00000491323,;PTPRG-AS1,upstream_gene_variant,,ENST00000479588,;	G	ENST00000494481	Transcript	missense_variant	318/3525	4/387	2/128	T/A	Act/Gct		1		1	C3orf14	HGNC	HGNC:25024	protein_coding	YES	CCDS2896.1	ENSP00000418086	Q9HBI5	A0A024R330	UPI00000729BA	NM_020685.4	tolerated(0.58)		3/6		hmmpanther:PTHR14286,Pfam_domain:PF15134																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	62320475	62320475	A	G	1	0	0	0	0	1	0	0	0	2059	275	10	5		5	C3orf14	3	62320475	Missense_Mutation	SNP	A	11LU022_TP	11953031	62320475	135975084	201	873											
PRICKLE2	0	.	GRCh38	chr3	64099472	64099472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaccgggagatggcctcgCgttcgctggccaggtggagg	6	8	17	10	4	0	1	0	0	0	1	2	3	0	2	3	6	1	2	3	6	1	2	rs760877594		11LU022_TP	11LU022_NB	C	C																c.2114G>A	p.Arg705His	p.R705H	ENST00000295902	8/8	25	21	4	49	49	0	strelka-varscan-mutect	PRICKLE2,missense_variant,p.Arg705His,ENST00000295902,NM_198859.3;PRICKLE2,missense_variant,p.Arg761His,ENST00000564377,;PRICKLE2-AS1,non_coding_transcript_exon_variant,,ENST00000482609,;PRICKLE2-AS1,non_coding_transcript_exon_variant,,ENST00000476308,;PRICKLE2-AS2,upstream_gene_variant,,ENST00000484703,;PRICKLE2-AS1,upstream_gene_variant,,ENST00000460946,;	T	ENST00000295902	Transcript	missense_variant	2700/8305	2114/2535	705/844	R/H	cGc/cAc	rs760877594	1		-1	PRICKLE2	HGNC	HGNC:20340	protein_coding	YES	CCDS2902.1	ENSP00000295902	Q7Z3G6	A0A024R368	UPI0000160A8B	NM_198859.3	deleterious(0)		8/8		hmmpanther:PTHR24211:SF18,hmmpanther:PTHR24211																	MODERATE	1	SNV	1			1										PASS		rs760877594	.												T	3	4	3	64099472	64099472	C	T	1	0	0	0	0	1	0	0	0	12619	768	27	1		1	PRICKLE2	3	64099472	Missense_Mutation	SNP	C	11LU022_TP	1778997	64099472	134196087	202	874											
LMOD3	0	.	GRCh38	chr3	69118697	69118697	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttctccctccttctacttAcaggtttaagataggcgaca	10	14	6	11	1	2	1	0	0	2	1	4	2	3	1	2	2	2	1	2	2	4	7	novel		11LU022_TP	11LU022_NB	A	A																c.1656+2T>C		p.X552_splice	ENST00000420581		38	28	10	60	60	0	strelka-varscan-mutect	LMOD3,splice_donor_variant,,ENST00000420581,;LMOD3,splice_donor_variant,,ENST00000475434,;LMOD3,splice_donor_variant,,ENST00000489031,NM_001304418.1,NM_198271.4;	G	ENST00000420581	Transcript	splice_donor_variant	-/4086	1656/1683	552/560				1		-1	LMOD3	HGNC	HGNC:6649	protein_coding	YES	CCDS46862.1	ENSP00000414670	Q0VAK6		UPI00001612AC					2/2																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	3	69118697	69118697	A	G	1	0	0	0	0	0	0	1	0	8785	405	14	5		5	LMOD3	3	69118697	Splice_Site	SNP	A	11LU022_TP	5019225	69118697	129176862	203	875											
PDZRN3	0	.	GRCh38	chr3	73383425	73383425	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgtccggggattttgtGccgtgggttaagagttcttg	4	14	16	7	3	1	1	0	0	1	1	2	2	2	2	3	3	2	2	3	3	1	5	novel		11LU022_TP	11LU022_NB	G	G																c.3141C>A	p.=	p.G1047G	ENST00000263666	10/10	83	62	21	127	127	0	strelka-varscan-mutect	PDZRN3,synonymous_variant,p.=,ENST00000263666,NM_015009.2;PDZRN3,synonymous_variant,p.=,ENST00000462146,NM_001303141.1;PDZRN3,synonymous_variant,p.=,ENST00000479530,NM_001303142.1;PDZRN3,synonymous_variant,p.=,ENST00000466780,NM_001303140.1;PDZRN3,synonymous_variant,p.=,ENST00000494559,;PDZRN3,downstream_gene_variant,,ENST00000492909,NM_001303139.1;PDZRN3,downstream_gene_variant,,ENST00000466348,;PDZRN3,downstream_gene_variant,,ENST00000478209,;PDZRN3,downstream_gene_variant,,ENST00000484487,;	T	ENST00000263666	Transcript	synonymous_variant	3256/4248	3141/3201	1047/1066	G	ggC/ggA		1		-1	PDZRN3	HGNC	HGNC:17704	protein_coding	YES	CCDS33789.1	ENSP00000263666	Q9UPQ7		UPI00001C1DE6	NM_015009.2			10/10		hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	73383425	73383425	G	T	1	0	0	0	0	0	0	0	1	11797	1306	46	2		2	PDZRN3	3	73383425	Silent	SNP	G	11LU022_TP	4264728	73383425	124912134	204	876											
GBE1	0	.	GRCh38	chr3	81642857	81642857	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaataacaggaatctgTcccatcaaacatattcaatc	18	10	4	9	0	3	1	2	1	1	0	5	2	4	2	1	1	2	0	1	1	7	3	novel		11LU022_TP	11LU022_NB	T	T																c.916A>G	p.Thr306Ala	p.T306A	ENST00000429644	7/16	166	118	48	220	220	0	strelka-varscan-mutect	GBE1,missense_variant,p.Thr306Ala,ENST00000429644,NM_000158.3;GBE1,missense_variant,p.Thr265Ala,ENST00000489715,;GBE1,non_coding_transcript_exon_variant,,ENST00000498468,;	C	ENST00000429644	Transcript	missense_variant	1560/3461	916/2109	306/702	T/A	Aca/Gca		1		-1	GBE1	HGNC	HGNC:4180	protein_coding	YES	CCDS54612.1	ENSP00000410833	Q04446		UPI0000209A24	NM_000158.3	deleterious(0.02)		7/16		Gene3D:3.20.20.80,PIRSF_domain:PIRSF000463,hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF146,SMART_domains:SM00642,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	81642857	81642857	T	C	1	0	0	0	0	1	0	0	0	6141	1667	58	5		5	GBE1	3	81642857	Missense_Mutation	SNP	T	11LU022_TP	8259432	81642857	116652702	205	877											
OR5K1	0	.	GRCh38	chr3	98469811	98469811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgtgcctgtgctattaccCccaaaatgttagagaacttc	10	12	8	11	0	0	1	0	0	0	1	1	2	0	1	3	0	4	3	3	0	6	4	novel		11LU022_TP	11LU022_NB	C	C																c.235C>A	p.Pro79Thr	p.P79T	ENST00000332650	1/1	189	98	91	179	179	0	strelka-varscan-mutect	OR5K1,missense_variant,p.Pro79Thr,ENST00000332650,NM_001004736.2;	A	ENST00000332650	Transcript	missense_variant	332/1097	235/927	79/308	P/T	Ccc/Acc		1		1	OR5K1	HGNC	HGNC:8349	protein_coding	YES	CCDS43115.1	ENSP00000373193	Q8NHB7	A0A126GWC1	UPI000013F5A3	NM_001004736.2	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF311,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	3	98469811	98469811	C	A	1	0	0	0	0	1	0	0	0	11236	623	22	2		2	OR5K1	3	98469811	Missense_Mutation	SNP	C	11LU022_TP	16826954	98469811	99825748	206	878											
USF3	0	.	GRCh38	chr3	113660447	113660447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattaatgtttttcaaatctGaagtactaacacttgaagaa	16	15	5	5	0	2	3	1	2	1	1	2	3	2	3	0	0	2	2	0	0	8	7	novel		11LU022_TP	11LU022_NB	G	G																c.1235C>T	p.Ser412Leu	p.S412L	ENST00000316407	7/7	270	212	58	253	252	1	strelka-varscan-mutect	USF3,missense_variant,p.Ser412Leu,ENST00000316407,NM_001009899.3;USF3,missense_variant,p.Ser412Leu,ENST00000478658,;USF3,intron_variant,,ENST00000491165,;USF3,non_coding_transcript_exon_variant,,ENST00000496826,;	A	ENST00000316407	Transcript	missense_variant	1646/13708	1235/6738	412/2245	S/L	tCa/tTa		1		-1	USF3	HGNC	HGNC:30494	protein_coding	YES	CCDS43133.1	ENSP00000320794	Q68DE3		UPI0004438052	NM_001009899.3	deleterious_low_confidence(0.01)		7/7		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	113660447	113660447	G	A	1	0	0	0	0	1	0	0	0	17567	1294	45	3		3	USF3	3	113660447	Missense_Mutation	SNP	G	11LU022_TP	15190636	113660447	84635112	207	879											
CASR	0	.	GRCh38	chr3	122262210	122262210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacagctcgacagccttccGacccctctgtacaggggatg	9	7	10	15	2	1	0	0	0	1	0	3	3	2	1	4	2	4	2	4	2	2	2			11LU022_TP	11LU022_NB	G	G																c.1175G>A	p.Arg392Gln	p.R392Q	ENST00000498619	4/7	277	245	32	252	252	0	strelka-varscan-mutect	CASR,missense_variant,p.Arg392Gln,ENST00000498619,NM_001178065.1;CASR,missense_variant,p.Arg392Gln,ENST00000490131,NM_000388.3;	A	ENST00000498619	Transcript	missense_variant	1613/5011	1175/3267	392/1088	R/Q	cGa/cAa	COSM3121267	1		1	CASR	HGNC	HGNC:1514	protein_coding	YES	CCDS54632.1	ENSP00000420194		E7ENE0	UPI000020A065	NM_001178065.1	tolerated(0.14)		4/7		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358,Superfamily_domains:SSF53822											1						MODERATE	1	SNV	1		1	1										PASS		rs1287075426	.												A	3	1	3	122262210	122262210	G	A	1	0	0	0	0	1	0	0	0	2381	1058	37	1		1	CASR	3	122262210	Missense_Mutation	SNP	G	11LU022_TP	8601763	122262210	76033349	208	880											
SLC12A8	0	.	GRCh38	chr3	125088310	125088310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccaaattggcacagacCtgcaggaggggagcaagaga	13	4	15	9	0	0	2	0	0	0	2	1	5	1	4	2	5	2	4	2	5	2	1	rs747266705		11LU022_TP	11LU022_NB	C	C																c.1982G>T	p.Arg661Met	p.R661M	ENST00000393469	12/13	190	91	99	178	177	1	strelka-varscan-mutect	SLC12A8,missense_variant,p.Arg661Met,ENST00000393469,NM_001195483.1;SLC12A8,missense_variant,p.Arg661Met,ENST00000469902,NM_024628.5;SLC12A8,missense_variant,p.Arg462Met,ENST00000430155,;SLC12A8,splice_acceptor_variant,,ENST00000461616,;SLC12A8,splice_region_variant,,ENST00000479352,;SLC12A8,splice_region_variant,,ENST00000483944,;SLC12A8,intron_variant,,ENST00000465475,;SLC12A8,splice_region_variant,,ENST00000473262,;	A	ENST00000393469	Transcript	missense_variant,splice_region_variant	2032/3447	1982/2145	661/714	R/M	aGg/aTg	rs747266705	1		-1	SLC12A8	HGNC	HGNC:15595	protein_coding	YES	CCDS43143.1	ENSP00000377112	A0AV02		UPI0004620A0B	NM_001195483.1	deleterious(0.01)		12/13		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs747266705	.												A	3	1	3	125088310	125088310	C	A	1	0	0	0	0	1	0	0	0	14654	695	24	2		2	SLC12A8	3	125088310	Missense_Mutation	SNP	C	11LU022_TP	2826100	125088310	73207249	209	881											
ZNF148	0	.	GRCh38	chr3	125288173	125288173	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctctgatttgttttttgTctctcatcagttgctcagat	5	20	7	9	0	5	2	3	1	2	1	7	2	5	2	0	0	1	4	0	0	0	5	novel		11LU022_TP	11LU022_NB	T	T																c.389A>G	p.Asp130Gly	p.D130G	ENST00000360647	5/9	161	103	58	182	182	0	strelka-varscan-mutect	ZNF148,missense_variant,p.Asp130Gly,ENST00000360647,NM_021964.2;ZNF148,missense_variant,p.Asp130Gly,ENST00000485866,;ZNF148,missense_variant,p.Asp130Gly,ENST00000484491,;ZNF148,missense_variant,p.Asp130Gly,ENST00000492394,;ZNF148,intron_variant,,ENST00000468369,;ZNF148,non_coding_transcript_exon_variant,,ENST00000497929,;	C	ENST00000360647	Transcript	missense_variant	875/9651	389/2385	130/794	D/G	gAc/gGc		1		-1	ZNF148	HGNC	HGNC:12933	protein_coding	YES	CCDS3031.1	ENSP00000353863	Q9UQR1		UPI000013C2FF	NM_021964.2	tolerated(0.21)		5/9		hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF65																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	125288173	125288173	T	C	1	0	0	0	0	1	0	0	0	18315	1667	58	5		5	ZNF148	3	125288173	Missense_Mutation	SNP	T	11LU022_TP	199863	125288173	73007386	210	882											
GP9	0	.	GRCh38	chr3	129061818	129061818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagcccatgtacctgcCgcgccctggaaaccatgggg	7	5	12	17	2	0	0	0	0	0	0	0	1	0	1	7	3	4	1	7	3	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.79C>A	p.Arg27Ser	p.R27S	ENST00000307395	3/3	307	163	144	350	350	0	strelka-varscan-mutect	GP9,missense_variant,p.Arg27Ser,ENST00000307395,NM_000174.4;	A	ENST00000307395	Transcript	missense_variant	301/889	79/534	27/177	R/S	Cgc/Agc		1		1	GP9	HGNC	HGNC:4444	protein_coding	YES	CCDS3055.1	ENSP00000303942	P14770		UPI000012B9D4	NM_000174.4	deleterious(0.03)		3/3		Pfam_domain:PF01462,hmmpanther:PTHR22650,hmmpanther:PTHR22650:SF6,SMART_domains:SM00013																	MODERATE	1	SNV	1			1										PASS		rs1394132097	.												A	3	1	3	129061818	129061818	C	A	1	0	0	0	0	1	0	0	0	6480	652	23	1		1	GP9	3	129061818	Missense_Mutation	SNP	C	11LU022_TP	3773645	129061818	69233741	211	883											
NCK1	0	.	GRCh38	chr3	136928202	136928202	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctcggaaagcatctatTgtgaaaaacctaaaggatac	16	9	9	7	1	1	1	0	1	1	0	2	3	1	3	1	2	4	2	1	2	7	4	novel		11LU022_TP	11LU022_NB	T	T																c.201T>G	p.Ile67Met	p.I67M	ENST00000481752	2/4	174	91	83	155	155	0	strelka-varscan-mutect	NCK1,missense_variant,p.Ile67Met,ENST00000481752,NM_001291999.1;NCK1,missense_variant,p.Ile67Met,ENST00000288986,NM_006153.5;NCK1,missense_variant,p.Ile67Met,ENST00000491539,;NCK1,missense_variant,p.Ile67Met,ENST00000485096,;NCK1,missense_variant,p.Ile67Met,ENST00000476286,;NCK1,missense_variant,p.Ile67Met,ENST00000488930,;NCK1,missense_variant,p.Ile55Met,ENST00000496489,;NCK1,upstream_gene_variant,,ENST00000469404,NM_001190796.2;NCK1,upstream_gene_variant,,ENST00000467911,;NCK1,non_coding_transcript_exon_variant,,ENST00000478862,;NCK1,non_coding_transcript_exon_variant,,ENST00000460960,;	G	ENST00000481752	Transcript	missense_variant	365/1971	201/1134	67/377	I/M	atT/atG		1		1	NCK1	HGNC	HGNC:7664	protein_coding	YES	CCDS3092.1	ENSP00000417273	P16333	A0A0S2Z4Y3	UPI000012FE3E	NM_001291999.1	tolerated(0.07)		2/4		PIRSF_domain:PIRSF037874,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF159																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	3	136928202	136928202	T	G	1	0	0	0	0	1	0	0	0	10237	1800	63	5		5	NCK1	3	136928202	Missense_Mutation	SNP	T	11LU022_TP	7866384	136928202	61367357	212	884											
TRIM42	0	.	GRCh38	chr3	140682854	140682854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtctgccgcaacaagcGcatcgcttacaagcgctgca	10	6	10	15	4	1	0	0	0	1	0	2	0	1	0	2	1	6	5	2	1	4	1	rs142526494		11LU022_TP	11LU022_NB	G	G																c.734G>C	p.Arg245Pro	p.R245P	ENST00000286349	2/5	215	131	84	228	228	0	strelka-varscan-mutect	TRIM42,missense_variant,p.Arg245Pro,ENST00000286349,NM_152616.4;	C	ENST00000286349	Transcript	missense_variant	925/2539	734/2172	245/723	R/P	cGc/cCc	rs142526494	1		1	TRIM42	HGNC	HGNC:19014	protein_coding	YES	CCDS3113.1	ENSP00000286349	Q8IWZ5		UPI00001AEAE0	NM_152616.4	deleterious(0)		2/5		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF269,SMART_domains:SM00336																	MODERATE	1	SNV	1			1										PASS		rs142526494	.												C	3	2	3	140682854	140682854	G	C	1	0	0	0	0	1	0	0	0	17007	1087	38	4		4	TRIM42	3	140682854	Missense_Mutation	SNP	G	11LU022_TP	3754652	140682854	57612705	213	885											
C3orf58	0	.	GRCh38	chr3	143972461	143972461	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctcttggcagcgcaacgaActgaccgaccggcgcttcct	7	7	11	16	5	1	1	0	1	1	0	2	3	2	1	4	2	3	3	4	2	2	2	rs778973713		11LU022_TP	11LU022_NB	A	A																c.129A>G	p.=	p.E43E	ENST00000315691	1/3	47	26	21	50	50	0	strelka-varscan-mutect	C3orf58,synonymous_variant,p.=,ENST00000315691,NM_173552.3;C3orf58,upstream_gene_variant,,ENST00000441925,;C3orf58,upstream_gene_variant,,ENST00000495414,NM_001134470.1;C3orf58,upstream_gene_variant,,ENST00000492452,;C3orf58,upstream_gene_variant,,ENST00000493396,;C3orf58,upstream_gene_variant,,ENST00000491798,;C3orf58,upstream_gene_variant,,ENST00000483808,;	G	ENST00000315691	Transcript	synonymous_variant	664/4346	129/1293	43/430	E	gaA/gaG	rs778973713	1		1	C3orf58	HGNC	HGNC:28490	protein_coding	YES	CCDS3130.1	ENSP00000320081	Q8NDZ4		UPI000006EE5C	NM_173552.3			1/3		PD307452,hmmpanther:PTHR32073,hmmpanther:PTHR32073:SF6																	LOW	1	SNV	1			1										PASS		rs778973713	.												G	2	3	3	143972461	143972461	A	G	1	0	0	0	0	0	0	0	1	2069	40	2	5		5	C3orf58	3	143972461	Silent	SNP	A	11LU022_TP	3289607	143972461	54323098	214	886											
ZIC1	0	.	GRCh38	chr3	147410131	147410131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgatgctcctggacgccggcCcccagtacccagcgatcggc	6	5	12	18	5	0	0	0	0	0	0	2	3	1	1	5	3	3	2	5	3	1	1	rs769500554		11LU022_TP	11LU022_NB	C	C																c.19C>A	p.Pro7Thr	p.P7T	ENST00000282928	1/3	87	58	29	88	88	0	strelka-varscan-mutect	ZIC1,missense_variant,p.Pro7Thr,ENST00000282928,NM_003412.3;ZIC1,intron_variant,,ENST00000488404,;ZIC4,upstream_gene_variant,,ENST00000383075,NM_032153.5;ZIC4,upstream_gene_variant,,ENST00000425731,NM_001168379.1;ZIC4,upstream_gene_variant,,ENST00000473123,;ZIC4,upstream_gene_variant,,ENST00000462748,;ZIC4,upstream_gene_variant,,ENST00000491672,NM_001243256.1;ZIC4,upstream_gene_variant,,ENST00000463250,;ZIC1,intron_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000464144,;	A	ENST00000282928	Transcript	missense_variant	748/5241	19/1344	7/447	P/T	Ccc/Acc	rs769500554	1		1	ZIC1	HGNC	HGNC:12872	protein_coding	YES	CCDS3136.1	ENSP00000282928	Q15915		UPI000013DD09	NM_003412.3	deleterious_low_confidence(0.02)		1/3		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26																	MODERATE	1	SNV	1			1										PASS		rs769500554	.												A	3	1	3	147410131	147410131	C	A	1	0	0	0	0	1	0	0	0	18257	623	22	2		2	ZIC1	3	147410131	Missense_Mutation	SNP	C	11LU022_TP	3437670	147410131	50885428	215	887											
P2RY13	0	.	GRCh38	chr3	151328836	151328836	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgaaggtggaggagcTggggatgtgaacaaacaccc	13	6	16	6	0	0	3	0	3	0	0	0	7	0	6	1	5	3	1	1	5	3	0	novel		11LU022_TP	11LU022_NB	T	T																c.220A>T	p.Ser74Cys	p.S74C	ENST00000325602	2/2	253	135	118	191	191	0	strelka-varscan-mutect	P2RY13,missense_variant,p.Ser74Cys,ENST00000325602,NM_176894.2;MED12L,intron_variant,,ENST00000474524,NM_053002.5;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000491549,;MED12L,intron_variant,,ENST00000468305,;	A	ENST00000325602	Transcript	missense_variant	240/2764	220/1065	74/354	S/C	Agc/Tgc		1		-1	P2RY13	HGNC	HGNC:4537	protein_coding	YES	CCDS3158.2	ENSP00000320376	Q9BPV8		UPI000020A470	NM_176894.2	deleterious(0)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF10,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	151328836	151328836	T	A	1	0	0	0	0	1	0	0	0	11423	1580	55	4		4	P2RY13	3	151328836	Missense_Mutation	SNP	T	11LU022_TP	3918705	151328836	46966723	216	888											
P2RY12	0	.	GRCh38	chr3	151338027	151338027	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcacatagaacagagtattTtcagcagtgcagtcaaagac	15	10	8	8	0	3	3	3	0	0	3	3	3	3	3	0	0	3	3	0	0	4	5	novel		11LU022_TP	11LU022_NB	T	T																c.819A>G	p.=	p.E273E	ENST00000302632	3/3	149	84	65	154	154	0	strelka-varscan-mutect	P2RY12,synonymous_variant,p.=,ENST00000302632,NM_176876.2,NM_022788.4;MED12L,intron_variant,,ENST00000474524,NM_053002.5;MED12L,intron_variant,,ENST00000273432,;MED12L,downstream_gene_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000491549,;MED12L,intron_variant,,ENST00000468305,;P2RY12,downstream_gene_variant,,ENST00000468596,;	C	ENST00000302632	Transcript	synonymous_variant	1119/1766	819/1029	273/342	E	gaA/gaG		1		-1	P2RY12	HGNC	HGNC:18124	protein_coding	YES	CCDS3159.1	ENSP00000307259	Q9H244		UPI0000001662	NM_176876.2,NM_022788.4			3/3		PROSITE_profiles:PS50262,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF0,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	3	151338027	151338027	T	C	1	0	0	0	0	0	0	0	1	11422	1838	64	5		5	P2RY12	3	151338027	Silent	SNP	T	11LU022_TP	9191	151338027	46957532	217	889											
LEKR1	0	.	GRCh38	chr3	156829347	156829347	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatggatcatcacattccCatgcatgcgttgcctgaaga	10	12	9	10	1	2	2	2	1	0	1	3	3	3	3	2	1	3	3	2	1	2	3			11LU022_TP	11LU022_NB	C	C																c.18C>T	p.=	p.P6P	ENST00000491763	2/5	106	95	11	94	94	0	strelka-varscan-mutect	LEKR1,synonymous_variant,p.=,ENST00000356539,NM_001004316.2;LEKR1,synonymous_variant,p.=,ENST00000491763,NM_001193283.1;LEKR1,synonymous_variant,p.=,ENST00000477399,;LEKR1,synonymous_variant,p.=,ENST00000498839,;LEKR1,synonymous_variant,p.=,ENST00000483177,;LEKR1,5_prime_UTR_variant,,ENST00000470811,;LEKR1,non_coding_transcript_exon_variant,,ENST00000489350,;LEKR1,non_coding_transcript_exon_variant,,ENST00000485017,;LEKR1,non_coding_transcript_exon_variant,,ENST00000465728,;LEKR1,non_coding_transcript_exon_variant,,ENST00000467376,;	T	ENST00000491763	Transcript	synonymous_variant	813/1940	18/399	6/132	P	ccC/ccT	COSM5601731	1		1	LEKR1	HGNC	HGNC:33765	protein_coding	YES	CCDS54660.1	ENSP00000474182		D3DNK7	UPI00006C06BC	NM_001193283.1			2/5		hmmpanther:PTHR34251											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	3	156829347	156829347	C	T	1	0	0	0	0	0	0	0	1	8625	581	21	3		3	LEKR1	3	156829347	Silent	SNP	C	11LU022_TP	5491320	156829347	41466212	218	890											
LEKR1	0	.	GRCh38	chr3	156920657	156920657	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgagtcatttgcaagatGagctaaaaattaaatataga	19	11	7	4	0	1	4	1	2	0	2	1	4	1	4	0	0	3	2	0	0	9	5	novel		11LU022_TP	11LU022_NB	G	G																c.346G>T	p.Glu116Ter	p.E116*	ENST00000491763	4/5	89	61	28	105	105	0	strelka-varscan-mutect	LEKR1,stop_gained,p.Glu116Ter,ENST00000356539,NM_001004316.2;LEKR1,stop_gained,p.Glu116Ter,ENST00000491763,NM_001193283.1;LEKR1,stop_gained,p.Glu116Ter,ENST00000477399,;LEKR1,5_prime_UTR_variant,,ENST00000470811,;LEKR1,non_coding_transcript_exon_variant,,ENST00000489350,;LEKR1,non_coding_transcript_exon_variant,,ENST00000467376,;LEKR1,upstream_gene_variant,,ENST00000495252,;	T	ENST00000491763	Transcript	stop_gained	1141/1940	346/399	116/132	E/*	Gag/Tag		1		1	LEKR1	HGNC	HGNC:33765	protein_coding	YES	CCDS54660.1	ENSP00000474182		D3DNK7	UPI00006C06BC	NM_001193283.1			4/5		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34251																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	3	156920657	156920657	G	T	1	0	0	0	0	0	1	0	0	8625	1291	45	2		2	LEKR1	3	156920657	Nonsense_Mutation	SNP	G	11LU022_TP	91310	156920657	41374902	219	891											
ZBBX	0	.	GRCh38	chr3	167360721	167360721	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttcacttttccagcagaAaactgtattaataaaataga	18	13	4	6	0	1	2	1	0	0	2	2	2	2	2	1	0	2	2	1	0	8	7	novel		11LU022_TP	11LU022_NB	A	A																c.276T>A	p.Phe92Leu	p.F92L	ENST00000455345	6/21	44	32	12	53	53	0	strelka-varscan-mutect	ZBBX,missense_variant,p.Phe92Leu,ENST00000392766,NM_024687.3;ZBBX,missense_variant,p.Phe92Leu,ENST00000455345,NM_001199201.1;ZBBX,missense_variant,p.Phe92Leu,ENST00000307529,;ZBBX,missense_variant,p.Phe63Leu,ENST00000392767,;ZBBX,missense_variant,p.Phe63Leu,ENST00000392764,NM_001199202.1;ZBBX,missense_variant,p.Phe92Leu,ENST00000474464,;ZBBX,intron_variant,,ENST00000469220,;	T	ENST00000455345	Transcript	missense_variant,splice_region_variant	560/3185	276/2520	92/839	F/L	ttT/ttA		1		-1	ZBBX	HGNC	HGNC:26245	protein_coding	YES	CCDS56296.1	ENSP00000390232	A8MT70		UPI000020A746	NM_001199201.1	tolerated(1)		6/21		hmmpanther:PTHR28634																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	167360721	167360721	A	T	1	0	0	0	0	1	0	0	0	18078	28	1	4		4	ZBBX	3	167360721	Missense_Mutation	SNP	A	11LU022_TP	10440064	167360721	30934838	220	892											
FNDC3B	0	.	GRCh38	chr3	172112581	172112581	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttggtgaatggagatgcAgctcagcaggttggtgtagg	9	10	16	6	0	1	2	1	1	0	1	1	3	1	2	0	5	3	5	0	5	2	3	novel		11LU022_TP	11LU022_NB	A	A																c.102A>T	p.=	p.A34A	ENST00000336824	2/26	247	145	102	206	206	0	strelka-varscan-mutect	FNDC3B,synonymous_variant,p.=,ENST00000336824,NM_001135095.1;FNDC3B,synonymous_variant,p.=,ENST00000415807,NM_022763.3;FNDC3B,synonymous_variant,p.=,ENST00000416957,;FNDC3B,synonymous_variant,p.=,ENST00000421757,;FNDC3B,synonymous_variant,p.=,ENST00000423424,;FNDC3B,non_coding_transcript_exon_variant,,ENST00000469491,;	T	ENST00000336824	Transcript	synonymous_variant	201/7904	102/3615	34/1204	A	gcA/gcT		1		1	FNDC3B	HGNC	HGNC:24670	protein_coding	YES	CCDS3217.1	ENSP00000338523	Q53EP0		UPI00001AE8B2	NM_001135095.1			2/26																			LOW	1	SNV	1			1										PASS		rs1444315410	.												T	2	4	3	172112581	172112581	A	T	1	0	0	0	0	0	0	0	1	5827	175	7	4		4	FNDC3B	3	172112581	Silent	SNP	A	11LU022_TP	4751860	172112581	26182978	221	893											
USP13	0	.	GRCh38	chr3	179720003	179720003	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggccaagcacttagcgcAttttggaattgatatgcttc	9	15	9	8	1	0	1	0	1	0	0	1	2	0	2	1	2	3	3	1	2	4	7	novel		11LU022_TP	11LU022_NB	A	A																c.869A>T	p.His290Leu	p.H290L	ENST00000263966	7/21	208	140	68	211	211	0	strelka-varscan-mutect	USP13,missense_variant,p.His290Leu,ENST00000263966,NM_003940.2;USP13,missense_variant,p.His225Leu,ENST00000496897,;USP13,upstream_gene_variant,,ENST00000497155,;USP13,non_coding_transcript_exon_variant,,ENST00000482333,;	T	ENST00000263966	Transcript	missense_variant	1340/8323	869/2592	290/863	H/L	cAt/cTt		1		1	USP13	HGNC	HGNC:12611	protein_coding	YES	CCDS3235.1	ENSP00000263966	Q92995	A0A0A6YZ17	UPI000006DC10	NM_003940.2	deleterious(0)		7/21		Gene3D:3.30.40.10,PIRSF_domain:PIRSF016308,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	179720003	179720003	A	T	1	0	0	0	0	1	0	0	0	17578	217	8	4		4	USP13	3	179720003	Missense_Mutation	SNP	A	11LU022_TP	7607422	179720003	18575556	222	894											
EPHB3	0	.	GRCh38	chr3	184581079	184581079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcgggaccggaacctcagGcccaaattctcccagattgt	9	8	11	13	2	2	1	1	0	1	1	3	3	2	3	4	3	2	0	4	3	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.2646G>T	p.Arg882Ser	p.R882S	ENST00000330394	14/16	207	124	83	276	276	0	strelka-varscan-mutect	EPHB3,missense_variant,p.Arg882Ser,ENST00000330394,NM_004443.3;EPHB3,downstream_gene_variant,,ENST00000473079,;EPHB3,downstream_gene_variant,,ENST00000482987,;	T	ENST00000330394	Transcript	missense_variant	3098/4236	2646/2997	882/998	R/S	agG/agT		1		1	EPHB3	HGNC	HGNC:3394	protein_coding	YES	CCDS3268.1	ENSP00000332118	P54753		UPI0000161C94	NM_004443.3	deleterious(0)		14/16		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000666,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF120,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	184581079	184581079	G	T	1	0	0	0	0	1	0	0	0	5023	1194	42	2		2	EPHB3	3	184581079	Missense_Mutation	SNP	G	11LU022_TP	4861076	184581079	13714480	223	895											
MUC4	0	.	GRCh38	chr3	195784541	195784541	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggggtggcgtgacctgTggatgctgaggaagggctag	9	7	20	5	1	0	3	0	2	0	1	0	5	0	5	1	6	1	2	1	6	3	1	rs199878638		11LU022_TP	11LU022_NB	T	T																c.7039A>T	p.Thr2347Ser	p.T2347S	ENST00000463781	2/25	215	197	18	429	421	8	varscan-mutect	MUC4,missense_variant,p.Thr2347Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr2347Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr2347Ser,ENST00000478156,;MUC4,missense_variant,p.Thr2347Ser,ENST00000466475,;MUC4,missense_variant,p.Thr2347Ser,ENST00000477756,;MUC4,missense_variant,p.Thr2347Ser,ENST00000477086,;MUC4,missense_variant,p.Thr2347Ser,ENST00000480843,;MUC4,missense_variant,p.Thr2347Ser,ENST00000462323,;MUC4,missense_variant,p.Thr2347Ser,ENST00000470451,;MUC4,missense_variant,p.Thr2347Ser,ENST00000479406,;	A	ENST00000463781	Transcript	missense_variant	7499/17110	7039/16239	2347/5412	T/S	Aca/Tca	rs199878638	1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	deleterious_low_confidence(0.01)		2/25																			MODERATE	1	SNV	5			1										PASS		rs199878638	.												A	3	1	3	195784541	195784541	T	A	1	0	0	0	0	1	0	0	0	9977	1696	59	4		4	MUC4	3	195784541	Missense_Mutation	SNP	T	11LU022_TP	11203462	195784541	2511018	224	896											
CRIPAK	0	.	GRCh38	chr4	1395697	1395697	+	Missense_Mutation	SNP	T	T	C																															gcccatgtggagtgcccgccTgctcacacaaagccctggca																								novel		11LU022_TP	11LU022_NB	T	T																c.1186T>C	p.Cys396Arg	p.C396R	ENST00000324803	1/1	785	601	184	994	994	0	strelka-varscan-mutect	CRIPAK,missense_variant,p.Cys396Arg,ENST00000324803,NM_175918.3;	C	ENST00000324803	Transcript	missense_variant	4146/4438	1186/1341	396/446	C/R	Tgc/Cgc		1		1	CRIPAK	HGNC	HGNC:26619	protein_coding	YES	CCDS3349.1	ENSP00000323978	Q8N1N5		UPI0000070390	NM_175918.3	deleterious_low_confidence(0.01)		1/1																			MODERATE	1	SNV				1										PASS		.	.												C	3	2	3	1395697	1395697	T	C	1	0	0	0	0	1	0	0	0	3678	1580	55	5		5	CRIPAK	4	1395697	Missense_Mutation	SNP	T	11LU022_TP		1395697	188818858	225	897	22	2									
CRIPAK	0	.	GRCh38	chr4	1395698	1395698	+	Missense_Mutation	SNP	G	G	T																															cccatgtggagtgcccgcctGctcacacaaagccctggcat																								novel		11LU022_TP	11LU022_NB	G	G																c.1187G>T	p.Cys396Phe	p.C396F	ENST00000324803	1/1	781	599	182	999	997	2	strelka-varscan-mutect	CRIPAK,missense_variant,p.Cys396Phe,ENST00000324803,NM_175918.3;	T	ENST00000324803	Transcript	missense_variant	4147/4438	1187/1341	396/446	C/F	tGc/tTc		1		1	CRIPAK	HGNC	HGNC:26619	protein_coding	YES	CCDS3349.1	ENSP00000323978	Q8N1N5		UPI0000070390	NM_175918.3	deleterious_low_confidence(0.02)		1/1																			MODERATE	1	SNV				1										PASS		.	.												T	3	4	3	1395698	1395698	G	T	1	0	0	0	0	1	0	0	0	3678	1319	46	2		2	CRIPAK	4	1395698	Missense_Mutation	SNP	G	11LU022_TP	1	1395698	188818857	226	898	22	2									
TRMT44	0	.	GRCh38	chr4	8446520	8446520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgcctttggaagaagatGatgaggggaacctaaaggtt	12	12	13	4	0	0	4	0	2	0	2	0	6	0	6	2	4	2	1	2	4	5	5	rs746519271		11LU022_TP	11LU022_NB	G	G																c.664G>A	p.Asp222Asn	p.D222N	ENST00000389737	2/11	189	176	13	219	219	0	strelka-mutect	TRMT44,missense_variant,p.Asp222Asn,ENST00000389737,NM_152544.2;TRMT44,5_prime_UTR_variant,,ENST00000513449,;TRMT44,intron_variant,,ENST00000504134,;TRMT44,non_coding_transcript_exon_variant,,ENST00000528167,;	A	ENST00000389737	Transcript	missense_variant	664/2799	664/2274	222/757	D/N	Gat/Aat	rs746519271	1		1	TRMT44	HGNC	HGNC:26653	protein_coding	YES	CCDS3402.2	ENSP00000374387	Q8IYL2		UPI0000DE1FA2	NM_152544.2	tolerated(0.17)		2/11		hmmpanther:PTHR21210:SF0,hmmpanther:PTHR21210																	MODERATE	1	SNV	5			1										PASS		rs746519271	.												A	3	1	3	8446520	8446520	G	A	1	0	0	0	0	1	0	0	0	17071	1290	45	3		3	TRMT44	4	8446520	Missense_Mutation	SNP	G	11LU022_TP	7050822	8446520	181768035	227	899											
GPR78	0	.	GRCh38	chr4	8581478	8581478	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgccgcccgagcctgagCgtccgcgcttcgcagccttc	3	7	12	19	6	0	1	0	1	0	0	3	2	1	1	6	0	4	2	6	0	0	2	novel		11LU022_TP	11LU022_NB	C	C																c.496C>G	p.Arg166Gly	p.R166G	ENST00000382487	1/3	181	145	36	178	178	0	strelka-varscan-mutect	GPR78,missense_variant,p.Arg166Gly,ENST00000382487,NM_080819.4;GPR78,intron_variant,,ENST00000509216,;GPR78,upstream_gene_variant,,ENST00000504255,;GPR78,downstream_gene_variant,,ENST00000503448,;GPR78,downstream_gene_variant,,ENST00000503981,;GPR78,missense_variant,p.Arg166Gly,ENST00000514302,;	G	ENST00000382487	Transcript	missense_variant	913/1694	496/1092	166/363	R/G	Cgt/Ggt		1		1	GPR78	HGNC	HGNC:4528	protein_coding	YES	CCDS3403.1	ENSP00000371927	Q96P69	B2R7M4	UPI0000037A5F	NM_080819.4	tolerated(0.26)		1/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF7,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		rs1003441060	.												G	3	3	3	8581478	8581478	C	G	1	0	0	0	0	1	0	0	0	6592	768	27	4		4	GPR78	4	8581478	Missense_Mutation	SNP	C	11LU022_TP	134958	8581478	181633077	228	900											
HS3ST1	0	.	GRCh38	chr4	11399703	11399703	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatctggctgaggtaccaGcccaagccgtggctgtaatg	8	8	14	11	1	1	1	0	1	1	0	1	1	1	1	3	4	3	5	3	4	3	2	novel		11LU022_TP	11LU022_NB	G	G																c.303C>T	p.=	p.G101G	ENST00000002596	2/2	284	240	44	242	242	0	strelka-varscan-mutect	HS3ST1,synonymous_variant,p.=,ENST00000002596,NM_005114.2;HS3ST1,downstream_gene_variant,,ENST00000510712,;HS3ST1,downstream_gene_variant,,ENST00000514690,;	A	ENST00000002596	Transcript	synonymous_variant	1478/8031	303/924	101/307	G	ggC/ggT		1		-1	HS3ST1	HGNC	HGNC:5194	protein_coding	YES	CCDS3408.1	ENSP00000002596	O14792	A0A024R9R4	UPI0000072A23	NM_005114.2			2/2		hmmpanther:PTHR10605:SF16,hmmpanther:PTHR10605,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	11399703	11399703	G	A	1	0	0	0	0	0	0	0	1	7257	958	34	3		3	HS3ST1	4	11399703	Silent	SNP	G	11LU022_TP	2818225	11399703	178814852	229	901											
SLIT2	0	.	GRCh38	chr4	20617003	20617003	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catccggaacctttacatcaAcagtgagctgcaggacttcc	11	9	8	13	1	1	1	1	1	0	0	3	3	3	3	3	2	5	2	3	2	3	3	novel		11LU022_TP	11LU022_NB	A	A																c.3941A>T	p.Asn1314Ile	p.N1314I	ENST00000504154	35/37	287	242	45	228	228	0	strelka-varscan-mutect	SLIT2,missense_variant,p.Asn1314Ile,ENST00000504154,NM_004787.2;SLIT2,missense_variant,p.Asn1224Ile,ENST00000622093,;SLIT2,missense_variant,p.Asn1306Ile,ENST00000503823,NM_001289136.1;SLIT2,missense_variant,p.Asn1327Ile,ENST00000273739,;SLIT2,missense_variant,p.Asn1310Ile,ENST00000503837,NM_001289135.1;SLIT2,intron_variant,,ENST00000512993,;SLIT2,non_coding_transcript_exon_variant,,ENST00000508541,;	T	ENST00000504154	Transcript	missense_variant	4193/6390	3941/4590	1314/1529	N/I	aAc/aTc		1		1	SLIT2	HGNC	HGNC:11086	protein_coding	YES	CCDS3426.1	ENSP00000422591	O94813		UPI00000747E4	NM_004787.2	deleterious(0)		35/37		PROSITE_profiles:PS50025,hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Gene3D:2.60.120.200,Pfam_domain:PF00054,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	20617003	20617003	A	T	1	0	0	0	0	1	0	0	0	15031	43	2	4		4	SLIT2	4	20617003	Missense_Mutation	SNP	A	11LU022_TP	9217300	20617003	169597552	230	902											
ZCCHC4	0	.	GRCh38	chr4	25365085	25365085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcattcttgtgagggccccaAacatggctgctttatttgtg	7	15	10	9	0	2	1	1	1	1	0	2	1	2	1	2	2	2	2	2	2	2	5	rs368159327		11LU022_TP	11LU022_NB	A	A																c.1325A>T	p.Lys442Ile	p.K442I	ENST00000302874	12/13	243	201	42	237	237	0	strelka-varscan-mutect	ZCCHC4,missense_variant,p.Lys442Ile,ENST00000302874,NM_024936.2;ZCCHC4,intron_variant,,ENST00000505412,;ZCCHC4,3_prime_UTR_variant,,ENST00000507760,;ZCCHC4,non_coding_transcript_exon_variant,,ENST00000508058,;	T	ENST00000302874	Transcript	missense_variant	1349/2785	1325/1542	442/513	K/I	aAa/aTa	rs368159327	1		1	ZCCHC4	HGNC	HGNC:22917	protein_coding	YES	CCDS43218.1	ENSP00000303468	Q9H5U6		UPI0000251F28	NM_024936.2	tolerated(0.15)		12/13		hmmpanther:PTHR13493,hmmpanther:PTHR13493:SF3																	MODERATE	1	SNV	1			1										PASS		rs368159327	.												T	3	4	3	25365085	25365085	A	T	1	0	0	0	0	1	0	0	0	18165	14	1	4		4	ZCCHC4	4	25365085	Missense_Mutation	SNP	A	11LU022_TP	4748082	25365085	164849470	231	903											
RBPJ	0	.	GRCh38	chr4	26406236	26406236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtacttattcttcatgcaAaagttgcacagaagtcatat	14	13	6	8	0	3	1	2	0	1	1	3	1	3	1	0	0	3	4	0	0	6	6	novel		11LU022_TP	11LU022_NB	A	A																c.160A>G	p.Lys54Glu	p.K54E	ENST00000342295	4/12	133	114	19	156	156	0	strelka-varscan-mutect	RBPJ,missense_variant,p.Lys40Glu,ENST00000355476,NM_203284.2;RBPJ,missense_variant,p.Lys54Glu,ENST00000342295,NM_005349.3;RBPJ,missense_variant,p.Lys40Glu,ENST00000342320,;RBPJ,missense_variant,p.Lys41Glu,ENST00000348160,NM_015874.4;RBPJ,missense_variant,p.Lys54Glu,ENST00000361572,;RBPJ,missense_variant,p.Lys19Glu,ENST00000507561,;RBPJ,missense_variant,p.Lys39Glu,ENST00000345843,NM_203283.2;RBPJ,missense_variant,p.Lys40Glu,ENST00000504907,;RBPJ,missense_variant,p.Lys54Glu,ENST00000512671,;RBPJ,missense_variant,p.Lys19Glu,ENST00000504938,;RBPJ,missense_variant,p.Lys77Glu,ENST00000510778,;RBPJ,missense_variant,p.Lys19Glu,ENST00000515573,;RBPJ,missense_variant,p.Lys40Glu,ENST00000512351,;RBPJ,missense_variant,p.Lys19Glu,ENST00000507574,;RBPJ,missense_variant,p.Lys40Glu,ENST00000514675,;RBPJ,missense_variant,p.Lys40Glu,ENST00000511546,;RBPJ,missense_variant,p.Lys40Glu,ENST00000514730,;RBPJ,missense_variant,p.Lys40Glu,ENST00000506956,;RBPJ,missense_variant,p.Lys40Glu,ENST00000509158,;RBPJ,missense_variant,p.Lys40Glu,ENST00000514807,;RBPJ,downstream_gene_variant,,ENST00000505958,;RBPJ,non_coding_transcript_exon_variant,,ENST00000511401,;RBPJ,non_coding_transcript_exon_variant,,ENST00000515023,;RBPJ,missense_variant,p.Lys41Glu,ENST00000513182,;RBPJ,non_coding_transcript_exon_variant,,ENST00000514380,;RBPJ,non_coding_transcript_exon_variant,,ENST00000511451,;	G	ENST00000342295	Transcript	missense_variant	396/5860	160/1503	54/500	K/E	Aaa/Gaa		1		1	RBPJ	HGNC	HGNC:5724	protein_coding	YES	CCDS3437.1	ENSP00000345206	Q06330		UPI000020BDF1	NM_005349.3	deleterious(0)		4/12		hmmpanther:PTHR10665:SF3,hmmpanther:PTHR10665,Gene3D:2.60.40.1450,Pfam_domain:PF09271,SMART_domains:SM01267,Superfamily_domains:SSF49417																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	3	26406236	26406236	A	G	1	0	0	0	0	1	0	0	0	13329	15	1	5		5	RBPJ	4	26406236	Missense_Mutation	SNP	A	11LU022_TP	1041151	26406236	163808319	232	904											
CCKAR	0	.	GRCh38	chr4	26485819	26485819	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtctgccagacccgggaCtgtaagggtttgcaaatcgc	8	11	12	10	2	1	1	0	0	1	1	2	2	1	2	2	2	2	3	2	2	2	3	novel		11LU022_TP	11LU022_NB	C	C																c.444G>T	p.Gln148His	p.Q148H	ENST00000295589	3/5	348	249	99	347	347	0	strelka-varscan-mutect	CCKAR,missense_variant,p.Gln148His,ENST00000295589,NM_000730.2;	A	ENST00000295589	Transcript	missense_variant	639/1720	444/1287	148/428	Q/H	caG/caT		1		-1	CCKAR	HGNC	HGNC:1570	protein_coding	YES	CCDS3438.1	ENSP00000295589	P32238		UPI00000503F3	NM_000730.2	tolerated(0.08)		3/5		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01822,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF76,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	26485819	26485819	C	A	1	0	0	0	0	1	0	0	0	2578	564	20	2		2	CCKAR	4	26485819	Missense_Mutation	SNP	C	11LU022_TP	79583	26485819	163728736	233	905											
PCDH7	0	.	GRCh38	chr4	30721735	30721735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtcagatgatcttcgacGagaacgagtgcttcctggac	10	10	12	9	3	2	3	1	1	1	2	4	7	3	4	1	1	2	1	1	1	1	2	rs745604162		11LU022_TP	11LU022_NB	G	G																c.313G>A	p.Glu105Lys	p.E105K	ENST00000543491	1/1	238	202	36	243	243	0	strelka-varscan-mutect	PCDH7,missense_variant,p.Glu105Lys,ENST00000361762,NM_002589.2;PCDH7,missense_variant,p.Glu105Lys,ENST00000543491,NM_032456.2;PCDH7,upstream_gene_variant,,ENST00000511884,NM_032457.3,NM_001173523.1;PCDH7,upstream_gene_variant,,ENST00000621961,;PCDH7,upstream_gene_variant,,ENST00000509759,;PCDH7,upstream_gene_variant,,ENST00000507864,;	A	ENST00000543491	Transcript	missense_variant	883/4457	313/3219	105/1072	E/K	Gag/Aag	rs745604162	1		1	PCDH7	HGNC	HGNC:8659	protein_coding	YES	CCDS75116.1	ENSP00000441802	O60245		UPI00001615DB	NM_032456.2	tolerated(0.07)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF321,Pfam_domain:PF08266,SMART_domains:SM00112																	MODERATE	1	SNV				1										PASS		rs745604162	.												A	3	1	3	30721735	30721735	G	A	1	0	0	0	0	1	0	0	0	11603	1059	37	1		1	PCDH7	4	30721735	Missense_Mutation	SNP	G	11LU022_TP	4235916	30721735	159492820	234	906											
DTHD1	0	.	GRCh38	chr4	36306315	36306315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaaaaccatacagagcGgcttggtatcagttgaattg	12	12	11	6	1	1	3	1	2	0	1	1	3	1	3	1	2	3	3	1	2	5	6	rs373949236		11LU022_TP	11LU022_NB	G	G																c.1393G>T	p.Gly465Cys	p.G465C	ENST00000456874	5/9	117	95	22	115	115	0	strelka-varscan-mutect	DTHD1,missense_variant,p.Gly465Cys,ENST00000456874,NM_001170700.2;DTHD1,missense_variant,p.Gly300Cys,ENST00000357504,NM_001136536.4;DTHD1,missense_variant,p.Gly505Cys,ENST00000507598,;RP11-431M7.2,downstream_gene_variant,,ENST00000504344,;	T	ENST00000456874	Transcript	missense_variant	1451/3365	1393/2346	465/781	G/C	Ggc/Tgc	rs373949236	1		1	DTHD1	HGNC	HGNC:37261	protein_coding	YES	CCDS54754.1	ENSP00000401597	Q6ZMT9		UPI00006C079E	NM_001170700.2	deleterious(0)		5/9		hmmpanther:PTHR24198,hmmpanther:PTHR24198:SF47																	MODERATE	1	SNV	1			1										PASS		rs373949236	.												T	3	4	3	36306315	36306315	G	T	1	0	0	0	0	1	0	0	0	4609	1116	39	1		1	DTHD1	4	36306315	Missense_Mutation	SNP	G	11LU022_TP	5584580	36306315	153908240	235	907											
CHRNA9	0	.	GRCh38	chr4	40335874	40335874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaagttgtttaatgacCtttttgaagattattctaat	12	18	6	5	0	2	4	1	2	1	2	2	4	2	4	1	0	0	2	1	0	5	8	novel		11LU022_TP	11LU022_NB	C	C																c.112C>A	p.Leu38Ile	p.L38I	ENST00000310169	2/5	141	118	23	132	132	0	strelka-varscan-mutect	CHRNA9,missense_variant,p.Leu38Ile,ENST00000310169,NM_017581.3;CHRNA9,upstream_gene_variant,,ENST00000502377,;	A	ENST00000310169	Transcript	missense_variant	251/2276	112/1440	38/479	L/I	Ctt/Att		1		1	CHRNA9	HGNC	HGNC:14079	protein_coding	YES	CCDS3459.1	ENSP00000312663	Q9UGM1		UPI000013EFB8	NM_017581.3	deleterious(0)		2/5		hmmpanther:PTHR18945:SF546,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932																	MODERATE	1	SNV	1			1										PASS		rs1417338116	.												A	3	1	3	40335874	40335874	C	A	1	0	0	0	0	1	0	0	0	3149	681	24	2		2	CHRNA9	4	40335874	Missense_Mutation	SNP	C	11LU022_TP	4029559	40335874	149878681	236	908											
SLAIN2	0	.	GRCh38	chr4	48420179	48420179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatctcctttggctcttcGgcaaccagtgaaagcattta	10	12	7	12	1	2	1	0	1	2	0	4	1	2	1	3	2	2	3	3	2	3	4	rs548702021		11LU022_TP	11LU022_NB	G	G																c.1415G>T	p.Arg472Leu	p.R472L	ENST00000264313	7/8	186	149	37	181	181	0	varscan-mutect	SLAIN2,missense_variant,p.Arg472Leu,ENST00000264313,NM_020846.1;SLAIN2,missense_variant,p.Arg305Leu,ENST00000512093,;SLAIN2,missense_variant,p.Arg81Leu,ENST00000510595,;	T	ENST00000264313	Transcript	missense_variant	1833/6299	1415/1746	472/581	R/L	cGg/cTg	rs548702021	1		1	SLAIN2	HGNC	HGNC:29282	protein_coding	YES	CCDS47051.1	ENSP00000264313	Q9P270	A0A024R9T6	UPI0000074559	NM_020846.1	deleterious(0)		7/8		hmmpanther:PTHR22406:SF4,hmmpanther:PTHR22406,Pfam_domain:PF15301																	MODERATE	1	SNV	1			1										PASS		rs548702021	.												T	3	4	3	48420179	48420179	G	T	1	0	0	0	0	1	0	0	0	14631	1116	39	1		1	SLAIN2	4	48420179	Missense_Mutation	SNP	G	11LU022_TP	8084305	48420179	141794376	237	909											
DCUN1D4	0	.	GRCh38	chr4	51863704	51863704	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggccaagacgatcaccAaacaggtatctgtaaatgct	14	9	8	10	1	2	1	1	0	1	1	2	2	2	1	2	2	2	3	2	2	5	3	novel		11LU022_TP	11LU022_NB	A	A																c.263A>G	p.Gln88Arg	p.Q88R	ENST00000451288	3/11	100	80	20	141	141	0	strelka-varscan-mutect	DCUN1D4,missense_variant,p.Gln44Arg,ENST00000334635,NM_001287757.1,NM_001040402.2;DCUN1D4,missense_variant,p.Gln88Arg,ENST00000451288,NM_001287755.1;DCUN1D4,missense_variant,p.Gln44Arg,ENST00000381441,NM_015115.3;DCUN1D4,missense_variant,p.Gln88Arg,ENST00000505403,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000513800,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000504113,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000504661,;DCUN1D4,missense_variant,p.Gln44Arg,ENST00000477560,;DCUN1D4,missense_variant,p.Gln88Arg,ENST00000509068,;DCUN1D4,3_prime_UTR_variant,,ENST00000507741,;DCUN1D4,3_prime_UTR_variant,,ENST00000506673,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000511675,;DCUN1D4,intron_variant,,ENST00000509376,;DCUN1D4,intron_variant,,ENST00000502930,;DUTP7,downstream_gene_variant,,ENST00000507982,;	G	ENST00000451288	Transcript	missense_variant	270/4269	263/1011	88/336	Q/R	cAa/cGa		1		1	DCUN1D4	HGNC	HGNC:28998	protein_coding	YES	CCDS75123.1	ENSP00000389900	Q92564		UPI00017A6FA4	NM_001287755.1	tolerated_low_confidence(0.07)		3/11		hmmpanther:PTHR12281,hmmpanther:PTHR12281:SF8																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	3	51863704	51863704	A	G	1	0	0	0	0	1	0	0	0	4119	144	5	5		5	DCUN1D4	4	51863704	Missense_Mutation	SNP	A	11LU022_TP	3443525	51863704	138350851	238	910											
KIAA1211	0	.	GRCh38	chr4	56314897	56314897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcggcgaagagagcagcaGggaaggagcggggatttcca	12	3	19	7	3	0	1	0	0	0	1	1	7	1	4	1	5	4	2	1	5	2	1	novel		11LU022_TP	11LU022_NB	G	G																c.1395G>T	p.Gln465His	p.Q465H	ENST00000504228	6/9	277	214	63	213	213	0	strelka-varscan-mutect	KIAA1211,missense_variant,p.Gln465His,ENST00000504228,;KIAA1211,missense_variant,p.Gln458His,ENST00000541073,;KIAA1211,missense_variant,p.Gln465His,ENST00000264229,NM_020722.1;KIAA1211,downstream_gene_variant,,ENST00000636006,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;	T	ENST00000504228	Transcript	missense_variant	1500/4628	1395/3702	465/1233	Q/H	caG/caT		1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309		deleterious(0.03)		6/9																			MODERATE	1	SNV	5			1										PASS		rs892624885	.												T	3	4	3	56314897	56314897	G	T	1	0	0	0	0	1	0	0	0	8107	991	35	2		2	KIAA1211	4	56314897	Missense_Mutation	SNP	G	11LU022_TP	4451193	56314897	133899658	239	911											
ADGRL3	0	.	GRCh38	chr4	62031506	62031506	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgggcctttggactcAtgtatattaatgaaagcaca	12	12	9	8	0	1	2	1	2	0	0	1	3	1	3	2	2	1	2	2	2	4	4	novel		11LU022_TP	11LU022_NB	A	A																c.3283A>T	p.Met1095Leu	p.M1095L	ENST00000514591	22/25	134	115	19	130	130	0	strelka-varscan-mutect	ADGRL3,missense_variant,p.Met1095Leu,ENST00000512091,NM_001322246.1;ADGRL3,missense_variant,p.Met1095Leu,ENST00000514591,NM_015236.4;ADGRL3,missense_variant,p.Met1163Leu,ENST00000509896,;ADGRL3,missense_variant,p.Met1154Leu,ENST00000511324,;ADGRL3,missense_variant,p.Met1163Leu,ENST00000508693,;ADGRL3,missense_variant,p.Met1154Leu,ENST00000507164,;ADGRL3,missense_variant,p.Met1163Leu,ENST00000506720,;ADGRL3,missense_variant,p.Met1154Leu,ENST00000506746,;ADGRL3,missense_variant,p.Met1154Leu,ENST00000507625,;ADGRL3,missense_variant,p.Met1086Leu,ENST00000506700,;ADGRL3,missense_variant,p.Met1095Leu,ENST00000504896,;ADGRL3,missense_variant,p.Met1086Leu,ENST00000514157,;ADGRL3,missense_variant,p.Met1095Leu,ENST00000508946,;ADGRL3,missense_variant,p.Met1086Leu,ENST00000514996,;ADGRL3,missense_variant,p.Met544Leu,ENST00000502815,;	T	ENST00000514591	Transcript	missense_variant	3612/6297	3283/4410	1095/1469	M/L	Atg/Ttg		1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4	tolerated(1)		22/25		PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF60,hmmpanther:PTHR12011,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		rs1228441734	.												T	3	4	3	62031506	62031506	A	T	1	0	0	0	0	1	0	0	0	377	217	8	4		4	ADGRL3	4	62031506	Missense_Mutation	SNP	A	11LU022_TP	5716609	62031506	128183049	240	912											
TMPRSS11A	0	.	GRCh38	chr4	67911458	67911458	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaattccaatgagataccAcgtatctttcagatcccttg	12	13	5	11	1	2	2	1	1	1	2	4	3	4	2	3	0	2	1	3	0	5	6	novel		11LU022_TP	11LU022_NB	A	A																c.1150T>A	p.Trp384Arg	p.W384R	ENST00000334830	10/10	133	107	26	165	164	1	strelka-varscan-mutect	TMPRSS11A,missense_variant,p.Trp381Arg,ENST00000508048,NM_001114387.1;TMPRSS11A,missense_variant,p.Trp384Arg,ENST00000334830,NM_182606.3;TMPRSS11A,missense_variant,p.Trp348Arg,ENST00000513536,;UBA6-AS1,intron_variant,,ENST00000500538,;	T	ENST00000334830	Transcript	missense_variant	1897/3054	1150/1266	384/421	W/R	Tgg/Agg		1		-1	TMPRSS11A	HGNC	HGNC:27954	protein_coding	YES	CCDS3519.1	ENSP00000334611		A0A0A0MR82	UPI0000457217	NM_182606.3	deleterious(0)		10/10		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF37,Pfam_domain:PF00089,Gene3D:2.40.10.10,PIRSF_domain:PIRSF037941,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	3	67911458	67911458	A	T	1	0	0	0	0	1	0	0	0	16715	159	6	4		4	TMPRSS11A	4	67911458	Missense_Mutation	SNP	A	11LU022_TP	5879952	67911458	122303097	241	913											
UGT2B7	0	.	GRCh38	chr4	69098660	69098660	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttgttggaggactccActgcaaacctgccaaacccc	10	10	8	13	0	0	1	0	1	0	0	1	3	1	3	5	2	4	2	5	2	2	3	novel		11LU022_TP	11LU022_NB	A	A																c.842A>T	p.His281Leu	p.H281L	ENST00000305231	2/6	207	163	44	198	198	0	strelka-varscan-mutect	UGT2B7,missense_variant,p.His281Leu,ENST00000305231,NM_001074.2;UGT2B7,missense_variant,p.His281Leu,ENST00000508661,;UGT2B7,missense_variant,p.His281Leu,ENST00000622664,;UGT2B7,missense_variant,p.His32Leu,ENST00000502942,;UGT2B7,non_coding_transcript_exon_variant,,ENST00000509763,;	T	ENST00000305231	Transcript	missense_variant	888/1887	842/1590	281/529	H/L	cAc/cTc		1		1	UGT2B7	HGNC	HGNC:12554	protein_coding	YES	CCDS3526.1	ENSP00000304811	P16662		UPI00000015EC	NM_001074.2	deleterious(0.01)		2/6		hmmpanther:PTHR11926:SF382,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	69098660	69098660	A	T	1	0	0	0	0	1	0	0	0	17486	159	6	4		4	UGT2B7	4	69098660	Missense_Mutation	SNP	A	11LU022_TP	1187202	69098660	121115895	242	914											
UGT2B7	0	.	GRCh38	chr4	69112584	69112584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaacaccttcgggttgcaGcccacgacctcacctggttc	8	9	8	16	2	1	0	1	0	0	0	3	1	1	0	4	2	3	3	4	2	2	4	rs780707514		11LU022_TP	11LU022_NB	G	G																c.1438G>T	p.Ala480Ser	p.A480S	ENST00000305231	6/6	277	225	52	305	305	0	strelka-varscan-mutect	UGT2B7,missense_variant,p.Ala480Ser,ENST00000305231,NM_001074.2;UGT2B7,3_prime_UTR_variant,,ENST00000508661,;UGT2B7,3_prime_UTR_variant,,ENST00000622664,;UGT2B7,downstream_gene_variant,,ENST00000502942,;UGT2B7,downstream_gene_variant,,ENST00000509763,;	T	ENST00000305231	Transcript	missense_variant	1484/1887	1438/1590	480/529	A/S	Gcc/Tcc	rs780707514	1		1	UGT2B7	HGNC	HGNC:12554	protein_coding	YES	CCDS3526.1	ENSP00000304811	P16662		UPI00000015EC	NM_001074.2	tolerated(0.24)		6/6		hmmpanther:PTHR11926:SF382,hmmpanther:PTHR11926,Pfam_domain:PF00201																	MODERATE	1	SNV	1			1										PASS		rs780707514	.												T	3	4	3	69112584	69112584	G	T	1	0	0	0	0	1	0	0	0	17486	971	34	2		2	UGT2B7	4	69112584	Missense_Mutation	SNP	G	11LU022_TP	13924	69112584	121101971	243	915											
MUC7	0	.	GRCh38	chr4	70481451	70481451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctccaccagagaccacagCtgccccacccacaccttctg	10	5	6	20	0	1	1	0	0	1	1	2	2	2	1	7	0	3	2	7	0	0	1	novel		11LU022_TP	11LU022_NB	C	C																c.707C>A	p.Ala236Asp	p.A236D	ENST00000413702	4/4	310	282	28	359	358	1	varscan-mutect	MUC7,missense_variant,p.Ala236Asp,ENST00000413702,NM_001145006.1;MUC7,missense_variant,p.Ala236Asp,ENST00000456088,NM_001145007.1;MUC7,missense_variant,p.Ala236Asp,ENST00000304887,NM_152291.2;MUC7,downstream_gene_variant,,ENST00000505411,;MUC7,downstream_gene_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,;	A	ENST00000413702	Transcript	missense_variant	995/2540	707/1134	236/377	A/D	gCt/gAt		1		1	MUC7	HGNC	HGNC:7518	protein_coding	YES	CCDS3541.1	ENSP00000407422	Q8TAX7		UPI000013E9DD	NM_001145006.1	tolerated(0.07)		4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR41683:SF1,hmmpanther:PTHR41683																	MODERATE	1	SNV	4			1										PASS		.	.												A	3	1	3	70481451	70481451	C	A	1	0	0	0	0	1	0	0	0	9981	797	28	2		2	MUC7	4	70481451	Missense_Mutation	SNP	C	11LU022_TP	1368867	70481451	119733104	244	916											
MUC7	0	.	GRCh38	chr4	70481520	70481520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctccaccagagaccacagCtgtcccacccacaccttctg	10	6	6	19	0	1	1	0	0	1	1	3	2	3	1	6	0	2	2	6	0	0	1	novel		11LU022_TP	11LU022_NB	C	C																c.776C>A	p.Ala259Asp	p.A259D	ENST00000413702	4/4	317	263	54	342	342	0	strelka-varscan-mutect	MUC7,missense_variant,p.Ala259Asp,ENST00000413702,NM_001145006.1;MUC7,missense_variant,p.Ala259Asp,ENST00000456088,NM_001145007.1;MUC7,missense_variant,p.Ala259Asp,ENST00000304887,NM_152291.2;MUC7,downstream_gene_variant,,ENST00000505411,;MUC7,downstream_gene_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,;	A	ENST00000413702	Transcript	missense_variant	1064/2540	776/1134	259/377	A/D	gCt/gAt		1		1	MUC7	HGNC	HGNC:7518	protein_coding	YES	CCDS3541.1	ENSP00000407422	Q8TAX7		UPI000013E9DD	NM_001145006.1	tolerated(0.39)		4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR41683:SF1,hmmpanther:PTHR41683																	MODERATE	1	SNV	4			1										PASS		.	.												A	3	1	3	70481520	70481520	C	A	1	0	0	0	0	1	0	0	0	9981	797	28	2		2	MUC7	4	70481520	Missense_Mutation	SNP	C	11LU022_TP	69	70481520	119733035	245	917											
GC	0	.	GRCh38	chr4	71756711	71756711	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcacatcacctctacttaCttatccatgactttggtgtt	8	18	4	11	0	3	1	2	1	1	0	4	1	4	1	2	1	2	1	2	1	3	6	novel		11LU022_TP	11LU022_NB	C	C																c.1091+1G>T		p.X364_splice	ENST00000504199		137	111	26	143	143	0	strelka-varscan-mutect	GC,splice_donor_variant,,ENST00000273951,NM_000583.3,NM_001204306.1;GC,splice_donor_variant,,ENST00000504199,NM_001204307.1;GC,splice_donor_variant,,ENST00000513476,;RNA5SP163,downstream_gene_variant,,ENST00000410304,;GC,splice_donor_variant,,ENST00000503472,;GC,upstream_gene_variant,,ENST00000503364,;GC,splice_donor_variant,,ENST00000509740,;	A	ENST00000504199	Transcript	splice_donor_variant	-/1777	1091/1482	364/493				1		-1	GC	HGNC	HGNC:4187	protein_coding	YES	CCDS56332.1	ENSP00000421725	P02774		UPI0001D3B4EE	NM_001204307.1				9/13																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	3	71756711	71756711	C	A	1	0	0	0	0	0	0	1	0	6152	579	20	2		2	GC	4	71756711	Splice_Site	SNP	C	11LU022_TP	1275191	71756711	118457844	246	918											
AFP	0	.	GRCh38	chr4	73452556	73452556	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctcctgcattctctgaTgacaagttcattttccataa	9	15	5	12	0	2	2	1	2	1	0	6	2	5	2	3	0	1	2	3	0	2	5	novel		11LU022_TP	11LU022_NB	T	T																c.1584T>A	p.Asp528Glu	p.D528E	ENST00000395792	12/15	295	222	73	325	325	0	strelka-varscan-mutect	AFP,missense_variant,p.Asp528Glu,ENST00000395792,NM_001134.2;AFP,missense_variant,p.Asp528Glu,ENST00000226359,;AFP,upstream_gene_variant,,ENST00000506820,;AFP,non_coding_transcript_exon_variant,,ENST00000508838,;AFP,non_coding_transcript_exon_variant,,ENST00000514279,;	A	ENST00000395792	Transcript	missense_variant	1684/2484	1584/1830	528/609	D/E	gaT/gaA		1		1	AFP	HGNC	HGNC:317	protein_coding	YES	CCDS3556.1	ENSP00000379138	P02771		UPI00000012A9	NM_001134.2	tolerated(0.11)		12/15		Gene3D:1.10.246.10,Pfam_domain:PF00273,PIRSF_domain:PIRSF002520,PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF7,SMART_domains:SM00103,Superfamily_domains:SSF48552																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	73452556	73452556	T	A	1	0	0	0	0	1	0	0	0	440	1461	51	4		4	AFP	4	73452556	Missense_Mutation	SNP	T	11LU022_TP	1695845	73452556	116761999	247	919											
CXCL1	0	.	GRCh38	chr4	73869732	73869732	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgcagggaattcaccccaAgaacatccaaagtgtgaacg	14	6	9	12	1	1	2	1	1	0	1	2	3	2	3	4	1	3	1	4	1	5	1	novel		11LU022_TP	11LU022_NB	A	A																c.164A>T	p.Lys55Met	p.K55M	ENST00000395761	2/4	219	183	36	246	246	0	strelka-varscan-mutect	CXCL1,missense_variant,p.Lys55Met,ENST00000395761,NM_001511.3;CXCL1,non_coding_transcript_exon_variant,,ENST00000509101,;	T	ENST00000395761	Transcript	missense_variant	231/1097	164/324	55/107	K/M	aAg/aTg		1		1	CXCL1	HGNC	HGNC:4602	protein_coding	YES	CCDS47074.1	ENSP00000379110	P09341		UPI0000047AA6	NM_001511.3	deleterious(0)		2/4		hmmpanther:PTHR10179,hmmpanther:PTHR10179:SF48,PROSITE_patterns:PS00471,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117,Prints_domain:PR00436																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	73869732	73869732	A	T	1	0	0	0	0	1	0	0	0	3887	72	3	4		4	CXCL1	4	73869732	Missense_Mutation	SNP	A	11LU022_TP	417176	73869732	116344823	248	920											
CDKL2	0	.	GRCh38	chr4	75581885	75581885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccctgaatcatctgacaggGgaggtcctgatacctataaa	12	9	9	11	0	2	3	1	3	1	0	3	4	3	4	4	3	1	0	4	3	5	3	novel		11LU022_TP	11LU022_NB	G	G																c.1430C>A	p.Pro477His	p.P477H	ENST00000429927	11/12	155	127	28	138	138	0	strelka-varscan-mutect	CDKL2,missense_variant,p.Pro477His,ENST00000429927,NM_003948.3;CDKL2,missense_variant,p.Pro554His,ENST00000307465,;	T	ENST00000429927	Transcript	missense_variant	2134/3383	1430/1482	477/493	P/H	cCc/cAc		1		-1	CDKL2	HGNC	HGNC:1782	protein_coding	YES	CCDS3570.1	ENSP00000412365	Q92772	A0A140VJG1	UPI000006D070	NM_003948.3	deleterious_low_confidence(0.02)		11/12																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	75581885	75581885	G	T	1	0	0	0	0	1	0	0	0	2858	1232	43	2		2	CDKL2	4	75581885	Missense_Mutation	SNP	G	11LU022_TP	1712153	75581885	114632670	249	921											
CCDC158	0	.	GRCh38	chr4	76362177	76362177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcacctcatttaataattGatctctctcttgtttgatgt	8	21	4	8	0	4	2	2	2	2	0	6	2	4	2	1	0	0	1	1	0	2	7	novel		11LU022_TP	11LU022_NB	G	G																c.1969C>A	p.Gln657Lys	p.Q657K	ENST00000388914	12/24	124	95	29	137	137	0	strelka-mutect	CCDC158,missense_variant,p.Gln657Lys,ENST00000388914,NM_001042784.1;CCDC158,non_coding_transcript_exon_variant,,ENST00000504667,;	T	ENST00000388914	Transcript	missense_variant	2122/3663	1969/3342	657/1113	Q/K	Caa/Aaa		1		-1	CCDC158	HGNC	HGNC:26374	protein_coding	YES	CCDS43242.1	ENSP00000373566	Q5M9N0		UPI00004DF23B	NM_001042784.1	deleterious(0.04)		12/24		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15921,hmmpanther:PTHR13140																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	76362177	76362177	G	T	1	0	0	0	0	1	0	0	0	2478	1299	45	2		2	CCDC158	4	76362177	Missense_Mutation	SNP	G	11LU022_TP	780292	76362177	113852378	250	922											
DSPP	0	.	GRCh38	chr4	87615160	87615160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaatagtagtgacagcaGcgatagcagcaacagcagtg	15	6	12	8	1	0	1	0	1	0	0	0	2	0	1	0	0	6	6	0	0	5	4	novel		11LU022_TP	11LU022_NB	G	G																c.2498G>T	p.Ser833Ile	p.S833I	ENST00000399271	5/5	561	500	61	595	595	0	strelka-varscan-mutect	DSPP,missense_variant,p.Ser833Ile,ENST00000399271,NM_014208.3;DSPP,missense_variant,p.Ser833Ile,ENST00000282478,;RP11-742B18.1,intron_variant,,ENST00000506480,;	T	ENST00000399271	Transcript	missense_variant	2618/4331	2498/3906	833/1301	S/I	aGc/aTc		1		1	DSPP	HGNC	HGNC:3054	protein_coding	YES	CCDS43248.1	ENSP00000382213	Q9NZW4		UPI00006BFF57	NM_014208.3	deleterious_low_confidence(0.01)		5/5		Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	3	87615160	87615160	G	T	1	0	0	0	0	1	0	0	0	4603	971	34	2		2	DSPP	4	87615160	Missense_Mutation	SNP	G	11LU022_TP	11252983	87615160	102599395	251	923											
MMRN1	0	.	GRCh38	chr4	89935505	89935505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attttaaatttcaacttaagGacacagaagagaatttacat	18	13	5	5	0	1	2	1	0	0	2	1	4	1	3	0	1	2	0	0	1	7	6	novel		11LU022_TP	11LU022_NB	G	G																c.1825G>T	p.Asp609Tyr	p.D609Y	ENST00000394980	7/9	85	62	23	94	94	0	strelka-varscan-mutect	MMRN1,missense_variant,p.Asp609Tyr,ENST00000394980,;MMRN1,missense_variant,p.Asp609Tyr,ENST00000264790,NM_007351.2;MMRN1,missense_variant,p.Asp351Tyr,ENST00000508372,;	T	ENST00000394980	Transcript	missense_variant	2144/5217	1825/3687	609/1228	D/Y	Gac/Tac		1		1	MMRN1	HGNC	HGNC:7178	protein_coding	YES	CCDS3635.1	ENSP00000378431	Q13201		UPI000013D570		deleterious(0.01)		7/9		hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	89935505	89935505	G	T	1	0	0	0	0	1	0	0	0	9633	1174	41	2		2	MMRN1	4	89935505	Missense_Mutation	SNP	G	11LU022_TP	2320345	89935505	100279050	252	924											
MMRN1	0	.	GRCh38	chr4	89936476	89936476	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttttaacaatgtgtcaCaatgcttctacaagtgtgtc	12	14	8	7	0	2	0	1	0	1	0	3	1	2	0	0	0	3	2	0	0	6	4	novel		11LU022_TP	11LU022_NB	C	C																c.2796C>T	p.=	p.H932H	ENST00000394980	7/9	150	132	18	127	127	0	strelka-varscan-mutect	MMRN1,synonymous_variant,p.=,ENST00000394980,;MMRN1,synonymous_variant,p.=,ENST00000264790,NM_007351.2;MMRN1,synonymous_variant,p.=,ENST00000508372,;	T	ENST00000394980	Transcript	synonymous_variant	3115/5217	2796/3687	932/1228	H	caC/caT		1		1	MMRN1	HGNC	HGNC:7178	protein_coding	YES	CCDS3635.1	ENSP00000378431	Q13201		UPI000013D570				7/9		hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	3	89936476	89936476	C	T	1	0	0	0	0	0	0	0	1	9633	477	17	3		3	MMRN1	4	89936476	Silent	SNP	C	11LU022_TP	971	89936476	100278079	253	925											
GRID2	0	.	GRCh38	chr4	93395644	93395644	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacaggtctgaatgggtCactgactgacaagaaattgg	12	10	12	7	0	3	4	2	3	1	1	3	4	3	4	0	3	0	0	0	3	3	1	novel		11LU022_TP	11LU022_NB	C	C																c.1283C>A	p.Ser428Ter	p.S428*	ENST00000282020	9/16	106	99	7	100	100	0	strelka-varscan-mutect	GRID2,stop_gained,p.Ser428Ter,ENST00000282020,NM_001510.3;GRID2,stop_gained,p.Ser347Ter,ENST00000611049,;GRID2,stop_gained,p.Ser333Ter,ENST00000510992,NM_001286838.1;	A	ENST00000282020	Transcript	stop_gained	2318/6117	1283/3024	428/1007	S/*	tCa/tAa		1		1	GRID2	HGNC	HGNC:4576	protein_coding	YES	CCDS3637.1	ENSP00000282020	O43424		UPI00001AEA78	NM_001510.3			9/16		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF109,Gene3D:3.40.190.10																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	3	93395644	93395644	C	A	1	0	0	0	0	0	1	0	0	6652	838	29	2		2	GRID2	4	93395644	Nonsense_Mutation	SNP	C	11LU022_TP	3459168	93395644	96818911	254	926											
GRID2	0	.	GRCh38	chr4	93772377	93772377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactggcccttttaggcacaGggcacctaatgggggctttt	8	11	12	10	0	0	0	0	0	0	0	0	0	0	0	2	5	1	3	2	5	3	5	novel		11LU022_TP	11LU022_NB	G	G																c.2903G>A	p.Arg968Lys	p.R968K	ENST00000282020	16/16	164	135	29	160	160	0	strelka-varscan-mutect	GRID2,missense_variant,p.Arg968Lys,ENST00000282020,NM_001510.3;GRID2,missense_variant,p.Arg887Lys,ENST00000611049,;GRID2,missense_variant,p.Arg873Lys,ENST00000510992,NM_001286838.1;GRID2,intron_variant,,ENST00000637838,;	A	ENST00000282020	Transcript	missense_variant	3938/6117	2903/3024	968/1007	R/K	aGg/aAg		1		1	GRID2	HGNC	HGNC:4576	protein_coding	YES	CCDS3637.1	ENSP00000282020	O43424		UPI00001AEA78	NM_001510.3	deleterious_low_confidence(0)		16/16																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	93772377	93772377	G	A	1	0	0	0	0	1	0	0	0	6652	1000	35	3		3	GRID2	4	93772377	Missense_Mutation	SNP	G	11LU022_TP	376733	93772377	96442178	255	927											
UNC5C	0	.	GRCh38	chr4	95250539	95250539	+	Silent	SNP	G	G	T																															ctcttggcaacaatgtttttGgcaacacaggtgtaatttgc																								novel		11LU022_TP	11LU022_NB	G	G																c.723C>A	p.=	p.A241A	ENST00000453304	5/16	193	169	24	207	206	1	strelka-varscan-mutect	UNC5C,synonymous_variant,p.=,ENST00000453304,NM_003728.3;UNC5C,synonymous_variant,p.=,ENST00000610318,;UNC5C,synonymous_variant,p.=,ENST00000513796,;UNC5C,synonymous_variant,p.=,ENST00000506749,;UNC5C,synonymous_variant,p.=,ENST00000504962,;	T	ENST00000453304	Transcript	synonymous_variant	1072/9875	723/2796	241/931	A	gcC/gcA		1		-1	UNC5C	HGNC	HGNC:12569	protein_coding	YES	CCDS3643.1	ENSP00000406022	O95185		UPI000004E6A5	NM_003728.3			5/16		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	95250539	95250539	G	T	1	0	0	0	0	0	0	0	1	17517	1335	47	2		2	UNC5C	4	95250539	Silent	SNP	G	11LU022_TP	1478162	95250539	94964016	256	928	23	2									
UNC5C	0	.	GRCh38	chr4	95250540	95250540	+	Missense_Mutation	SNP	G	G	T																															tcttggcaacaatgtttttgGcaacacaggtgtaatttgca																								novel		11LU022_TP	11LU022_NB	G	G																c.722C>A	p.Ala241Asp	p.A241D	ENST00000453304	5/16	194	170	24	207	207	0	strelka-varscan-mutect	UNC5C,missense_variant,p.Ala241Asp,ENST00000453304,NM_003728.3;UNC5C,missense_variant,p.Ala200Asp,ENST00000610318,;UNC5C,missense_variant,p.Ala241Asp,ENST00000513796,;UNC5C,missense_variant,p.Ala241Asp,ENST00000506749,;UNC5C,missense_variant,p.Ala241Asp,ENST00000504962,;	T	ENST00000453304	Transcript	missense_variant	1071/9875	722/2796	241/931	A/D	gCc/gAc		1		-1	UNC5C	HGNC	HGNC:12569	protein_coding	YES	CCDS3643.1	ENSP00000406022	O95185		UPI000004E6A5	NM_003728.3	deleterious(0)		5/16		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	95250540	95250540	G	T	1	0	0	0	0	1	0	0	0	17517	1203	42	2		2	UNC5C	4	95250540	Missense_Mutation	SNP	G	11LU022_TP	1	95250540	94964015	257	929	23	2									
ADH1A	0	.	GRCh38	chr4	99276642	99276642	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcaaaacatcagaatggtAcggatactgcaataggaaag	17	8	9	7	1	2	1	2	0	1	1	3	3	2	3	0	3	4	2	0	3	8	3	novel		11LU022_TP	11LU022_NB	A	A																c.1110T>A	p.=	p.R370R	ENST00000209668	9/9	195	178	17	206	206	0	strelka-varscan-mutect	ADH1A,synonymous_variant,p.=,ENST00000209668,NM_000667.3;RP11-696N14.1,intron_variant,,ENST00000500358,;RP11-696N14.1,intron_variant,,ENST00000506160,;RP11-696N14.1,downstream_gene_variant,,ENST00000509295,;RP11-696N14.1,downstream_gene_variant,,ENST00000510764,;	T	ENST00000209668	Transcript	synonymous_variant	1224/1499	1110/1128	370/375	R	cgT/cgA		1		-1	ADH1A	HGNC	HGNC:249	protein_coding	YES	CCDS3648.1	ENSP00000209668	P07327		UPI0000062219	NM_000667.3			9/9		hmmpanther:PTHR11695:SF527,hmmpanther:PTHR11695,SMART_domains:SM00829,Superfamily_domains:SSF50129																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	99276642	99276642	A	T	1	0	0	0	0	0	0	0	1	380	378	14	4		4	ADH1A	4	99276642	Silent	SNP	A	11LU022_TP	4026102	99276642	90937913	258	930											
ADH1B	0	.	GRCh38	chr4	99314024	99314024	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgctttacagcccataaCagcagataggccgacccctc	11	7	8	15	1	0	1	0	0	0	1	1	2	0	1	4	1	6	3	4	1	3	4	rs371001544		11LU022_TP	11LU022_NB	C	C																c.625G>T	p.Val209Phe	p.V209F	ENST00000305046	6/9	293	256	37	306	305	1	strelka-varscan-mutect	ADH1B,missense_variant,p.Val209Phe,ENST00000305046,NM_000668.5;ADH1B,missense_variant,p.Val169Phe,ENST00000625860,;ADH1B,missense_variant,p.Val169Phe,ENST00000506651,NM_001286650.1;ADH1B,non_coding_transcript_exon_variant,,ENST00000632775,;ADH1B,non_coding_transcript_exon_variant,,ENST00000515694,;ADH1B,downstream_gene_variant,,ENST00000504498,;	A	ENST00000305046	Transcript	missense_variant	693/4072	625/1128	209/375	V/F	Gtt/Ttt	rs371001544	1		-1	ADH1B	HGNC	HGNC:250	protein_coding	YES	CCDS34033.1	ENSP00000306606	P00325	V9HW50	UPI00001699B5	NM_000668.5	deleterious(0)		6/9		hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF527,Pfam_domain:PF00107,Gene3D:3.40.50.720,SMART_domains:SM00829,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		rs371001544	.												A	3	1	3	99314024	99314024	C	A	1	0	0	0	0	1	0	0	0	381	478	17	2		2	ADH1B	4	99314024	Missense_Mutation	SNP	C	11LU022_TP	37382	99314024	90900531	259	931											
ALPK1	0	.	GRCh38	chr4	112431186	112431186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattctgatgcatttcgaGtctccttggatcaagatgtg	8	14	9	10	1	3	2	1	1	2	1	5	4	3	3	2	1	1	1	2	1	1	3	novel		11LU022_TP	11LU022_NB	G	G																c.1639G>T	p.Val547Phe	p.V547F	ENST00000458497	11/16	120	92	28	149	149	0	strelka-varscan-mutect	ALPK1,missense_variant,p.Val547Phe,ENST00000458497,NM_025144.3,NM_001102406.1;ALPK1,missense_variant,p.Val469Phe,ENST00000504176,NM_001253884.1;ALPK1,missense_variant,p.Val547Phe,ENST00000177648,;ALPK1,downstream_gene_variant,,ENST00000508589,;ALPK1,3_prime_UTR_variant,,ENST00000509722,;ALPK1,non_coding_transcript_exon_variant,,ENST00000504745,;ALPK1,intron_variant,,ENST00000505127,;ALPK1,downstream_gene_variant,,ENST00000512847,;	T	ENST00000458497	Transcript	missense_variant	1918/5410	1639/3735	547/1244	V/F	Gtc/Ttc		1		1	ALPK1	HGNC	HGNC:20917	protein_coding	YES	CCDS3697.1	ENSP00000398048	Q96QP1		UPI000045725F	NM_025144.3,NM_001102406.1	tolerated(0.09)		11/16		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF30																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	112431186	112431186	G	T	1	0	0	0	0	1	0	0	0	644	1029	36	2		2	ALPK1	4	112431186	Missense_Mutation	SNP	G	11LU022_TP	13117162	112431186	77783369	260	932											
ANK2	0	.	GRCh38	chr4	113353551	113353551	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaccttactgatgatctgAatacctgtgtgcctcttccc	8	14	6	13	0	2	3	0	3	2	0	3	3	3	3	4	0	4	0	4	0	4	4	novel		11LU022_TP	11LU022_NB	A	A																c.4933A>T	p.Asn1645Tyr	p.N1645Y	ENST00000357077	38/46	271	206	65	384	384	0	strelka-varscan-mutect	ANK2,missense_variant,p.Asn1645Tyr,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Asn1612Tyr,ENST00000264366,;ANK2,missense_variant,p.Asn1660Tyr,ENST00000504454,;ANK2,missense_variant,p.Asn1558Tyr,ENST00000503423,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000612754,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	T	ENST00000357077	Transcript	missense_variant	4986/14196	4933/11874	1645/3957	N/Y	Aat/Tat		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	deleterious(0.01)		38/46		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	113353551	113353551	A	T	1	0	0	0	0	1	0	0	0	721	246	9	4		4	ANK2	4	113353551	Missense_Mutation	SNP	A	11LU022_TP	922365	113353551	76861004	261	933											
ANK2	0	.	GRCh38	chr4	113357609	113357609	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggacataaaaatggaatcCcaacaggaaagtaccttgtg	17	7	9	8	0	0	0	0	0	0	0	1	3	1	3	2	3	2	1	2	3	7	3	novel		11LU022_TP	11LU022_NB	C	C																c.8991C>T	p.=	p.S2997S	ENST00000357077	38/46	350	308	42	397	397	0	strelka-varscan-mutect	ANK2,synonymous_variant,p.=,ENST00000357077,NM_001148.4;ANK2,synonymous_variant,p.=,ENST00000264366,;ANK2,synonymous_variant,p.=,ENST00000505342,;ANK2,3_prime_UTR_variant,,ENST00000612754,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;	T	ENST00000357077	Transcript	synonymous_variant	9044/14196	8991/11874	2997/3957	S	tcC/tcT		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4			38/46		hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	113357609	113357609	C	T	1	0	0	0	0	0	0	0	1	721	610	22	3		3	ANK2	4	113357609	Silent	SNP	C	11LU022_TP	4058	113357609	76856946	262	934											
ANK2	0	.	GRCh38	chr4	113367838	113367838	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagtcatctctggaatatCagcaggaatatttgtgagtt	13	13	10	5	0	3	2	2	1	1	1	4	4	3	4	0	2	1	2	0	2	5	4	novel		11LU022_TP	11LU022_NB	C	C																c.11305C>T	p.Gln3769Ter	p.Q3769*	ENST00000357077	42/46	173	151	22	196	196	0	strelka-varscan-mutect	ANK2,stop_gained,p.Gln3769Ter,ENST00000357077,NM_001148.4;ANK2,stop_gained,p.Gln3736Ter,ENST00000264366,;ANK2,stop_gained,p.Gln1675Ter,ENST00000506722,NM_001127493.1;ANK2,stop_gained,p.Gln1684Ter,ENST00000394537,NM_020977.3;ANK2,stop_gained,p.Gln779Ter,ENST00000505342,;ANK2,stop_gained,p.Gln686Ter,ENST00000514960,;ANK2,stop_gained,p.Gln860Ter,ENST00000509550,;ANK2,stop_gained,p.Gln336Ter,ENST00000510275,;ANK2,3_prime_UTR_variant,,ENST00000612754,;ANK2,downstream_gene_variant,,ENST00000504415,;ANK2,downstream_gene_variant,,ENST00000508007,;	T	ENST00000357077	Transcript	stop_gained	11358/14196	11305/11874	3769/3957	Q/*	Cag/Tag		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4			42/46		hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	3	113367838	113367838	C	T	1	0	0	0	0	0	1	0	0	721	827	29	3		3	ANK2	4	113367838	Nonsense_Mutation	SNP	C	11LU022_TP	10229	113367838	76846717	263	935											
NDST4	0	.	GRCh38	chr4	114848214	114848214	+	Splice_Site	DEL	C	C	-																															attttttgttatttttcttaCcagtctattcctttgtgata																								novel		11LU022_TP	11LU022_NB	C	C																c.1940+1delG		p.X647_splice	ENST00000264363		40	37	3	70	70	0	varindel-pindel	NDST4,splice_donor_variant,,ENST00000613194,;NDST4,splice_donor_variant,,ENST00000264363,NM_022569.1;NDST4,splice_donor_variant,,ENST00000504854,;	-	ENST00000264363	Transcript	splice_donor_variant	-/3351	1940/2619	647/872				1		-1	NDST4	HGNC	HGNC:20779	protein_coding	YES	CCDS3706.1	ENSP00000264363	Q9H3R1		UPI000006CED7	NM_022569.1				9/13																		HIGH	1	deletion	1			1										PASS		.	.												-	8	5	3	114848214	114848214	C	-	1	0	1	0	1	0	0	1	0	10279	521	18	0		0	NDST4	4	114848214	Splice_Site	DEL	C	11LU022_TP	1480376	114848214	75366341	264	936											
FAT4	0	.	GRCh38	chr4	125490400	125490400	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccttagcctgatcctgtgTaaccagtgcagggggaagaa	10	9	13	9	0	0	2	0	1	0	1	2	3	2	3	4	2	3	2	4	2	4	2	novel		11LU022_TP	11LU022_NB	T	T																c.13578T>C	p.=	p.C4526C	ENST00000394329	17/17	312	261	51	308	308	0	strelka-varscan-mutect	FAT4,synonymous_variant,p.=,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,synonymous_variant,p.=,ENST00000335110,;	C	ENST00000394329	Transcript	synonymous_variant	13591/16123	13578/14946	4526/4981	C	tgT/tgC		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4			17/17		hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	3	125490400	125490400	T	C	1	0	0	0	0	0	0	0	1	5552	1644	57	5		5	FAT4	4	125490400	Silent	SNP	T	11LU022_TP	10642186	125490400	64724155	265	937											
DCHS2	0	.	GRCh38	chr4	154391234	154391234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcagtactttcaaactGctgagtaaacatcttctttt	11	15	6	9	0	4	1	2	1	2	0	4	1	4	1	0	1	4	4	0	1	4	6	novel		11LU022_TP	11LU022_NB	G	G																c.64C>A	p.Gln22Lys	p.Q22K	ENST00000623607	1/25	82	64	18	135	135	0	strelka-varscan-mutect	DCHS2,missense_variant,p.Gln22Lys,ENST00000357232,;DCHS2,missense_variant,p.Gln22Lys,ENST00000623607,NM_017639.3;DCHS2,intron_variant,,ENST00000339452,NM_001142552.1;	T	ENST00000623607	Transcript	missense_variant	64/8912	64/8751	22/2916	Q/K	Cag/Aag		1		-1	DCHS2	HGNC	HGNC:23111	protein_coding	YES	CCDS3785.1	ENSP00000485514	Q6V1P9		UPI000035B018	NM_017639.3	tolerated_low_confidence(0.14)		1/25																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	154391234	154391234	G	T	1	0	0	0	0	1	0	0	0	4091	1328	46	2		2	DCHS2	4	154391234	Missense_Mutation	SNP	G	11LU022_TP	28900834	154391234	35823321	266	938											
GRIA2	0	.	GRCh38	chr4	157336458	157336458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaagcccttcatgagcCtcgggatatctatcatgatc	10	12	7	12	1	4	2	3	2	2	0	7	3	4	3	2	1	2	0	2	1	3	3	novel		11LU022_TP	11LU022_NB	C	C																c.1555C>T	p.Leu519Phe	p.L519F	ENST00000296526	11/16	54	50	4	58	58	0	strelka-varscan-mutect	GRIA2,missense_variant,p.Leu519Phe,ENST00000296526,NM_000826.3;GRIA2,missense_variant,p.Leu472Phe,ENST00000393815,NM_001083620.1;GRIA2,missense_variant,p.Leu519Phe,ENST00000264426,NM_001083619.1;GRIA2,missense_variant,p.Leu472Phe,ENST00000507898,;GRIA2,upstream_gene_variant,,ENST00000510854,;GRIA2,missense_variant,p.Leu472Phe,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	T	ENST00000296526	Transcript	missense_variant	1880/5621	1555/2652	519/883	L/F	Ctc/Ttc		1		1	GRIA2	HGNC	HGNC:4572	protein_coding	YES	CCDS3797.1	ENSP00000296526	P42262		UPI000002AA8D	NM_000826.3	deleterious(0)		11/16		Gene3D:3.40.190.10,Pfam_domain:PF10613,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF206,SMART_domains:SM00079,Superfamily_domains:SSF53850																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	157336458	157336458	C	T	1	0	0	0	0	1	0	0	0	6648	681	24	3		3	GRIA2	4	157336458	Missense_Mutation	SNP	C	11LU022_TP	2945224	157336458	32878097	267	939											
TLL1	0	.	GRCh38	chr4	166003451	166003451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaatctctatcggcaagaaCtgtgataaatttgggattgt	12	13	10	6	1	1	2	0	1	1	1	3	3	1	3	0	2	1	2	0	2	6	4	novel		11LU022_TP	11LU022_NB	C	C																c.693C>A	p.Asn231Lys	p.N231K	ENST00000061240	6/21	269	240	29	297	297	0	strelka-varscan-mutect	TLL1,missense_variant,p.Asn231Lys,ENST00000061240,NM_012464.4;TLL1,missense_variant,p.Asn231Lys,ENST00000507499,;TLL1,missense_variant,p.Asn231Lys,ENST00000513213,NM_001204760.1;TLL1,3_prime_UTR_variant,,ENST00000509505,;	A	ENST00000061240	Transcript	missense_variant	1340/6708	693/3042	231/1013	N/K	aaC/aaA		1		1	TLL1	HGNC	HGNC:11843	protein_coding	YES	CCDS3811.1	ENSP00000061240	O43897		UPI0000072EED	NM_012464.4	deleterious(0)		6/21		Gene3D:3.40.390.10,Pfam_domain:PF01400,PIRSF_domain:PIRSF001199,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,SMART_domains:SM00235,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	166003451	166003451	C	A	1	0	0	0	0	1	0	0	0	16391	564	20	2		2	TLL1	4	166003451	Missense_Mutation	SNP	C	11LU022_TP	8666993	166003451	24211104	268	940											
SPOCK3	0	.	GRCh38	chr4	166742004	166742004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctattactcacctaggagCttctttaccccttgccgctt	7	15	5	14	1	3	0	1	0	2	0	3	1	3	1	4	1	4	2	4	1	4	8	novel		11LU022_TP	11LU022_NB	C	C																c.996G>T	p.Lys332Asn	p.K332N	ENST00000357154	10/12	156	125	31	163	163	0	strelka-varscan-mutect	SPOCK3,missense_variant,p.Lys281Asn,ENST00000421836,NM_001204352.1;SPOCK3,missense_variant,p.Lys332Asn,ENST00000357154,NM_016950.2;SPOCK3,missense_variant,p.Lys332Asn,ENST00000506886,;SPOCK3,missense_variant,p.Lys329Asn,ENST00000357545,NM_001040159.1;SPOCK3,missense_variant,p.Lys332Asn,ENST00000511531,;SPOCK3,missense_variant,p.Lys329Asn,ENST00000504953,;SPOCK3,missense_variant,p.Lys212Asn,ENST00000541354,NM_001204355.1,NM_001204353.1;SPOCK3,missense_variant,p.Lys332Asn,ENST00000502330,;SPOCK3,missense_variant,p.Lys240Asn,ENST00000535728,NM_001204354.1;SPOCK3,missense_variant,p.Lys289Asn,ENST00000510741,NM_001204356.1;SPOCK3,missense_variant,p.Lys329Asn,ENST00000511269,;SPOCK3,missense_variant,p.Lys234Asn,ENST00000512681,NM_001251967.1;SPOCK3,3_prime_UTR_variant,,ENST00000502821,;SPOCK3,3_prime_UTR_variant,,ENST00000511905,;SPOCK3,3_prime_UTR_variant,,ENST00000505187,;SPOCK3,3_prime_UTR_variant,,ENST00000507370,;	A	ENST00000357154	Transcript	missense_variant	1134/2986	996/1311	332/436	K/N	aaG/aaT		1		-1	SPOCK3	HGNC	HGNC:13565	protein_coding	YES	CCDS54817.1	ENSP00000349677	Q9BQ16		UPI000004BA60	NM_016950.2	tolerated(0.06)		10/12		PROSITE_profiles:PS51162,hmmpanther:PTHR22118,hmmpanther:PTHR22118:SF10,Gene3D:4.10.800.10,Pfam_domain:PF00086,Superfamily_domains:SSF57610																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	166742004	166742004	C	A	1	0	0	0	0	1	0	0	0	15434	796	28	2		2	SPOCK3	4	166742004	Missense_Mutation	SNP	C	11LU022_TP	738553	166742004	23472551	269	941											
DDX60	0	.	GRCh38	chr4	168237764	168237764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgactctgggttgcttgaagGacagcaatgaatgctttagc	10	12	12	7	0	1	3	0	3	1	0	1	4	1	4	0	2	4	4	0	2	4	4	novel		11LU022_TP	11LU022_NB	G	G																c.4196C>T	p.Ser1399Phe	p.S1399F	ENST00000393743	31/38	107	97	10	130	130	0	strelka-varscan-mutect	DDX60,missense_variant,p.Ser1399Phe,ENST00000393743,NM_017631.5;DDX60,upstream_gene_variant,,ENST00000511317,;DDX60,upstream_gene_variant,,ENST00000507815,;	A	ENST00000393743	Transcript	missense_variant	4488/6071	4196/5139	1399/1712	S/F	tCc/tTc		1		-1	DDX60	HGNC	HGNC:25942	protein_coding	YES	CCDS34097.1	ENSP00000377344	Q8IY21		UPI000020B6AB	NM_017631.5	deleterious(0.02)		31/38		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	168237764	168237764	G	A	1	0	0	0	0	1	0	0	0	4181	1174	41	3		3	DDX60	4	168237764	Missense_Mutation	SNP	G	11LU022_TP	1495760	168237764	21976791	270	942											
DDX60L	0	.	GRCh38	chr4	168472694	168472694	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatatcaaagattgagaattAcccatcgttgctgcttcttg	12	14	7	8	1	2	2	1	1	1	2	3	3	2	2	1	0	3	3	1	0	5	6	rs756236304		11LU022_TP	11LU022_NB	A	A																c.4+2T>A		p.X2_splice	ENST00000260184		122	98	24	154	154	0	strelka-varscan-mutect	DDX60L,splice_donor_variant,,ENST00000511577,;DDX60L,splice_donor_variant,,ENST00000260184,NM_001012967.2;DDX60L,splice_donor_variant,,ENST00000505890,NM_001291510.1;DDX60L,splice_donor_variant,,ENST00000514748,;DDX60L,splice_donor_variant,,ENST00000505696,;DDX60L,splice_donor_variant,,ENST00000512371,;SNORA51,downstream_gene_variant,,ENST00000384442,;DDX60L,splice_donor_variant,,ENST00000515088,;DDX60L,splice_donor_variant,,ENST00000513901,;DDX60L,downstream_gene_variant,,ENST00000505150,;	T	ENST00000260184	Transcript	splice_donor_variant	-/6754	4/5121	2/1706			rs756236304	1		-1	DDX60L	HGNC	HGNC:26429	protein_coding	YES	CCDS47161.1	ENSP00000260184	Q5H9U9		UPI0003EAE873	NM_001012967.2				2/37																		HIGH	1	SNV	5			1										PASS		rs756236304	.												T	5	4	3	168472694	168472694	A	T	1	0	0	0	0	0	0	1	0	4182	405	14	4		4	DDX60L	4	168472694	Splice_Site	SNP	A	11LU022_TP	234930	168472694	21741861	271	943											
PALLD	0	.	GRCh38	chr4	168690669	168690669	+	Frame_Shift_Del	DEL	C	C	-																															agtgccgggtccgtggggcaCcccctctgcaggtccagtgg																								novel		11LU022_TP	11LU022_NB	C	C																c.1406delC	p.Pro469LeufsTer38	p.P469Lfs*38	ENST00000505667	7/22	352	267	85	391	391	0	sindel-varindel-pindel	PALLD,frameshift_variant,p.Pro469LeufsTer38,ENST00000261509,NM_016081.3;PALLD,frameshift_variant,p.Pro469LeufsTer38,ENST00000505667,NM_001166108.1;PALLD,frameshift_variant,p.Pro87LeufsTer38,ENST00000512127,NM_001166109.1;PALLD,frameshift_variant,p.Pro448LeufsTer41,ENST00000508898,;PALLD,frameshift_variant,p.Pro87LeufsTer?,ENST00000503457,;PALLD,downstream_gene_variant,,ENST00000504519,;PALLD,downstream_gene_variant,,ENST00000513245,;RNU6-1336P,upstream_gene_variant,,ENST00000383886,;	-	ENST00000505667	Transcript	frameshift_variant	1575/3637	1402/3372	468/1123	P/X	Ccc/cc		1		1	PALLD	HGNC	HGNC:17068	protein_coding	YES	CCDS54818.1	ENSP00000425556	Q8WX93		UPI000189A85C	NM_001166108.1			7/22		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF741,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	3	168690669	168690669	C	-	1	0	1	0	1	0	0	0	0	11487	507	18	0		0	PALLD	4	168690669	Frame_Shift_Del	DEL	C	11LU022_TP	217975	168690669	21523886	272	944											
CENPU	0	.	GRCh38	chr4	184710164	184710164	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttctggacaccaaatgtgCacaatgtcagaagtatctaa	14	10	7	10	0	3	1	1	0	2	1	3	2	3	2	2	1	1	2	2	1	5	3	novel		11LU022_TP	11LU022_NB	C	C																c.705G>T	p.=	p.V235V	ENST00000281453	8/13	111	98	13	132	132	0	strelka-varscan-mutect	CENPU,synonymous_variant,p.=,ENST00000281453,NM_024629.3;CENPU,non_coding_transcript_exon_variant,,ENST00000506535,;CENPU,synonymous_variant,p.=,ENST00000510146,;	A	ENST00000281453	Transcript	synonymous_variant	776/1998	705/1257	235/418	V	gtG/gtT		1		-1	CENPU	HGNC	HGNC:21348	protein_coding	YES	CCDS3838.1	ENSP00000281453	Q71F23		UPI00001BFAF6	NM_024629.3			8/13		hmmpanther:PTHR32222:SF1,hmmpanther:PTHR32222,Pfam_domain:PF13097																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	184710164	184710164	C	A	1	0	0	0	0	0	0	0	1	2951	697	25	2		2	CENPU	4	184710164	Silent	SNP	C	11LU022_TP	16019495	184710164	5504391	273	945											
FAT1	0	.	GRCh38	chr4	186708895	186708895	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgactttatactccttactCcctggaaaggacctcactgt	9	14	6	12	0	1	1	1	1	0	0	3	3	3	3	3	2	2	0	3	2	4	5	novel		11LU022_TP	11LU022_NB	C	C																c.933G>C	p.=	p.G311G	ENST00000441802	2/27	129	101	28	198	198	0	strelka-varscan-mutect	FAT1,synonymous_variant,p.=,ENST00000441802,NM_005245.3;FAT1,synonymous_variant,p.=,ENST00000614102,;FAT1,synonymous_variant,p.=,ENST00000509647,;	G	ENST00000441802	Transcript	synonymous_variant	1143/14786	933/13767	311/4588	G	ggG/ggC		1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3			2/27		hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,SMART_domains:SM00112																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	3	186708895	186708895	C	G	1	0	0	0	0	0	0	0	1	5549	842	30	4		4	FAT1	4	186708895	Silent	SNP	C	11LU022_TP	1998731	186708895	3505660	274	946											
ADAMTS16	0	.	GRCh38	chr5	5222835	5222835	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtattggaaggaaatgtgAgactaaatttatgccagcag	14	11	11	5	1	0	1	0	1	0	1	1	4	0	3	1	2	2	2	1	2	6	5	novel		11LU022_TP	11LU022_NB	A	A																c.1652A>T	p.Glu551Val	p.E551V	ENST00000274181	11/23	229	193	36	192	191	1	strelka-varscan-mutect	ADAMTS16,missense_variant,p.Glu551Val,ENST00000274181,NM_139056.2;ADAMTS16,missense_variant,p.Glu551Val,ENST00000511368,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	T	ENST00000274181	Transcript	missense_variant	1790/4979	1652/3675	551/1224	E/V	gAg/gTg		1		1	ADAMTS16	HGNC	HGNC:17108	protein_coding	YES	CCDS43299.1	ENSP00000274181	Q8TE57		UPI00004572CA	NM_139056.2	tolerated(0.14)		11/23		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	5222835	5222835	A	T	1	0	0	0	0	1	0	0	0	305	304	11	4		4	ADAMTS16	5	5222835	Missense_Mutation	SNP	A	11LU022_TP		5222835	176315424	275	947											
ICE1	0	.	GRCh38	chr5	5443244	5443244	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttgaagagtgatgctcAgtaagtagttactaaattac	14	13	9	5	0	1	3	1	2	0	1	1	3	1	3	0	0	4	5	0	0	7	6	novel		11LU022_TP	11LU022_NB	A	A																c.386A>T	p.Gln129Leu	p.Q129L	ENST00000296564	6/19	92	85	7	101	101	0	strelka-varscan-mutect	ICE1,missense_variant,p.Gln129Leu,ENST00000296564,NM_015325.2;ICE1,missense_variant,p.Gln52Leu,ENST00000512608,;	T	ENST00000296564	Transcript	missense_variant,splice_region_variant	608/7927	386/6801	129/2266	Q/L	cAg/cTg		1		1	ICE1	HGNC	HGNC:29154	protein_coding	YES	CCDS47187.1	ENSP00000296564	Q9Y2F5		UPI00015542F9	NM_015325.2	deleterious(0.03)		6/19		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11852:SF4,hmmpanther:PTHR11852																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	5443244	5443244	A	T	1	0	0	0	0	1	0	0	0	7384	202	7	4		4	ICE1	5	5443244	Missense_Mutation	SNP	A	11LU022_TP	220409	5443244	176095015	276	948											
ADCY2	0	.	GRCh38	chr5	7773078	7773078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcccacgtcctgggcgaCtacagccaggtcttatttga	8	9	10	14	3	1	1	0	1	1	0	2	2	2	1	3	2	2	0	3	2	2	3	novel		11LU022_TP	11LU022_NB	C	C																c.2361C>A	p.Asp787Glu	p.D787E	ENST00000338316	18/25	171	136	35	112	112	0	strelka-varscan-mutect	ADCY2,missense_variant,p.Asp787Glu,ENST00000338316,NM_020546.2;ADCY2,missense_variant,p.Asp4Glu,ENST00000493243,;	A	ENST00000338316	Transcript	missense_variant	2450/6575	2361/3276	787/1091	D/E	gaC/gaA		1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2	tolerated(1)		18/25		PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	7773078	7773078	C	A	1	0	0	0	0	1	0	0	0	338	564	20	2		2	ADCY2	5	7773078	Missense_Mutation	SNP	C	11LU022_TP	2329834	7773078	173765181	277	949											
SEMA5A	0	.	GRCh38	chr5	9051944	9051944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggagcactggctgcccatgGggaacaggaggatgcactgg	9	5	17	10	1	0	0	0	0	0	0	0	4	0	4	1	7	4	3	1	7	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.2774C>T	p.Pro925Leu	p.P925L	ENST00000382496	20/23	297	275	22	192	192	0	strelka-varscan-mutect	SEMA5A,missense_variant,p.Pro925Leu,ENST00000382496,NM_003966.2;MIR4636,downstream_gene_variant,,ENST00000582271,;	A	ENST00000382496	Transcript	missense_variant	3440/11762	2774/3225	925/1074	P/L	cCc/cTc		1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2	deleterious(0.04)		20/23		PROSITE_profiles:PS50092,hmmpanther:PTHR11036:SF78,hmmpanther:PTHR11036,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	9051944	9051944	G	A	1	0	0	0	0	1	0	0	0	14313	1232	43	3		3	SEMA5A	5	9051944	Missense_Mutation	SNP	G	11LU022_TP	1278866	9051944	172486315	278	950											
FBXL7	0	.	GRCh38	chr5	15928297	15928297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgacccgcagactctgcCaggacacccccaacgtgtgt	8	7	10	16	2	1	2	0	1	1	1	1	3	1	3	4	1	3	2	4	1	1	0	novel		11LU022_TP	11LU022_NB	C	C																c.535C>A	p.Gln179Lys	p.Q179K	ENST00000504595	3/4	638	600	38	490	490	0	strelka-varscan-mutect	FBXL7,missense_variant,p.Gln179Lys,ENST00000504595,NM_012304.4;FBXL7,missense_variant,p.Gln137Lys,ENST00000329673,;FBXL7,missense_variant,p.Gln132Lys,ENST00000510662,NM_001278317.1;	A	ENST00000504595	Transcript	missense_variant	1016/4562	535/1476	179/491	Q/K	Cag/Aag		1		1	FBXL7	HGNC	HGNC:13604	protein_coding	YES	CCDS54833.1	ENSP00000423630	Q9UJT9		UPI00000724E0	NM_012304.4	tolerated(0.39)		3/4		Gene3D:3.80.10.10,hmmpanther:PTHR24006,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	15928297	15928297	C	A	1	0	0	0	0	1	0	0	0	5587	595	21	2		2	FBXL7	5	15928297	Missense_Mutation	SNP	C	11LU022_TP	6876353	15928297	165609962	279	951											
CDH12	0	.	GRCh38	chr5	21755648	21755648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccccagtgctaagtcctaCaggtagaaaaattgcttcca	12	9	8	12	1	0	1	0	0	0	1	2	1	2	1	4	1	3	3	4	1	5	5	novel		11LU022_TP	11LU022_NB	C	C																c.1828G>A	p.Val610Ile	p.V610I	ENST00000382254	14/15	294	253	41	203	203	0	strelka-varscan-mutect	CDH12,missense_variant,p.Val610Ile,ENST00000382254,NM_004061.3;CDH12,missense_variant,p.Val610Ile,ENST00000504376,;CDH12,missense_variant,p.Val570Ile,ENST00000522262,;RP11-804N13.1,intron_variant,,ENST00000522350,;CDH12,non_coding_transcript_exon_variant,,ENST00000521384,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;	T	ENST00000382254	Transcript	missense_variant	2915/4164	1828/2385	610/794	V/I	Gta/Ata		1		-1	CDH12	HGNC	HGNC:1751	protein_coding	YES	CCDS3890.1	ENSP00000371689	P55289		UPI00000622EB	NM_004061.3	tolerated(0.15)		14/15		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF96																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	21755648	21755648	C	T	1	0	0	0	0	1	0	0	0	2801	478	17	3		3	CDH12	5	21755648	Missense_Mutation	SNP	C	11LU022_TP	5827351	21755648	159782611	280	952											
PDZD2	0	.	GRCh38	chr5	32087325	32087325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgagggcagcccctccccgGgggagaaagcagcggctccc	8	3	15	15	2	0	2	0	1	0	1	2	3	2	2	5	4	3	3	5	4	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.3877G>A	p.Gly1293Arg	p.G1293R	ENST00000438447	20/25	226	108	118	140	140	0	strelka-varscan-mutect	PDZD2,missense_variant,p.Gly1293Arg,ENST00000438447,NM_178140.2;PDZD2,downstream_gene_variant,,ENST00000503961,;	A	ENST00000438447	Transcript	missense_variant	4265/11704	3877/8520	1293/2839	G/R	Ggg/Agg		1		1	PDZD2	HGNC	HGNC:18486	protein_coding	YES	CCDS34137.1	ENSP00000402033	O15018	A0A024RE15	UPI000069648B	NM_178140.2	tolerated(0.83)		20/25		hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF16																	MODERATE	1	SNV	1			1										PASS		rs1407081973	.												A	3	1	3	32087325	32087325	G	A	1	0	0	0	0	1	0	0	0	11789	1232	43	3		3	PDZD2	5	32087325	Missense_Mutation	SNP	G	11LU022_TP	10331677	32087325	149450934	281	953											
NPR3	0	.	GRCh38	chr5	32712159	32712159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcgcggggcgccaagcCagaccttatcctggggccag	6	4	17	14	4	0	1	0	0	0	1	1	1	1	1	5	6	1	0	5	6	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.383C>A	p.Pro128Gln	p.P128Q	ENST00000265074	1/8	258	212	46	193	193	0	strelka-varscan-mutect	NPR3,missense_variant,p.Pro128Gln,ENST00000265074,NM_001204375.1;NPR3,missense_variant,p.Pro128Gln,ENST00000415167,NM_000908.3;NPR3,intron_variant,,ENST00000326958,NM_001204376.1;NPR3,intron_variant,,ENST00000434067,;NPR3,intron_variant,,ENST00000509104,;NPR3,upstream_gene_variant,,ENST00000507141,;NPR3,intron_variant,,ENST00000506712,;	A	ENST00000265074	Transcript	missense_variant	726/7344	383/1626	128/541	P/Q	cCa/cAa		1		1	NPR3	HGNC	HGNC:7945	protein_coding	YES	CCDS56357.1	ENSP00000265074	P17342		UPI0000125B46	NM_001204375.1	deleterious(0.01)		1/8		hmmpanther:PTHR11920:SF302,hmmpanther:PTHR11920,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	32712159	32712159	C	A	1	0	0	0	0	1	0	0	0	10652	594	21	2		2	NPR3	5	32712159	Missense_Mutation	SNP	C	11LU022_TP	624834	32712159	148826100	282	954											
ADAMTS12	0	.	GRCh38	chr5	33588761	33588761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggttcgcttcttctccccGtggggcccgcatgtcgccga	3	10	12	16	6	2	0	0	0	2	0	5	1	2	0	4	3	0	3	4	3	0	3	rs754083071		11LU022_TP	11LU022_NB	G	G																c.2703C>A	p.His901Gln	p.H901Q	ENST00000504830	18/24	239	185	54	216	216	0	strelka-varscan-mutect	ADAMTS12,missense_variant,p.His901Gln,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.His816Gln,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	T	ENST00000504830	Transcript	missense_variant	3039/8774	2703/4785	901/1594	H/Q	caC/caA	rs754083071,COSM5521258	1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	tolerated(0.54)		18/24		Gene3D:2.20.100.10,Pfam_domain:PF00090,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,SMART_domains:SM00209,Superfamily_domains:SSF82895											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs754083071	.												T	3	4	3	33588761	33588761	G	T	1	0	0	0	0	1	0	0	0	301	1136	40	1		1	ADAMTS12	5	33588761	Missense_Mutation	SNP	G	11LU022_TP	876602	33588761	147949498	283	955											
ADAMTS12	0	.	GRCh38	chr5	33683941	33683941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtcggccaccaccagtGtctccacccatctctccttg	5	12	7	17	1	2	0	0	0	2	0	6	0	3	0	6	1	0	0	6	1	0	2	novel		11LU022_TP	11LU022_NB	G	G																c.749C>A	p.Thr250Lys	p.T250K	ENST00000504830	4/24	116	81	35	66	66	0	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Thr250Lys,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Thr250Lys,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	T	ENST00000504830	Transcript	missense_variant	1085/8774	749/4785	250/1594	T/K	aCa/aAa		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	deleterious(0)		4/24		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	33683941	33683941	G	T	1	0	0	0	0	1	0	0	0	301	1377	48	2		2	ADAMTS12	5	33683941	Missense_Mutation	SNP	G	11LU022_TP	95180	33683941	147854318	284	956											
NIPBL	0	.	GRCh38	chr5	36985957	36985957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggacagagggtaacaagaGtaaagtagacactaataaag	21	5	11	4	0	0	3	0	0	0	3	0	4	0	4	0	2	1	3	0	2	9	5	novel		11LU022_TP	11LU022_NB	G	G																c.2777G>T	p.Ser926Ile	p.S926I	ENST00000282516	10/47	262	193	69	280	280	0	strelka-varscan-mutect	NIPBL,missense_variant,p.Ser926Ile,ENST00000282516,NM_133433.3;NIPBL,missense_variant,p.Ser926Ile,ENST00000448238,NM_015384.4;NIPBL,intron_variant,,ENST00000621733,;NIPBL,non_coding_transcript_exon_variant,,ENST00000504430,;	T	ENST00000282516	Transcript	missense_variant	3276/10435	2777/8415	926/2804	S/I	aGt/aTt		1		1	NIPBL	HGNC	HGNC:28862	protein_coding	YES	CCDS3920.1	ENSP00000282516	Q6KC79		UPI00003761B5	NM_133433.3	tolerated_low_confidence(0.38)		10/47																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	36985957	36985957	G	T	1	0	0	0	0	1	0	0	0	10463	1029	36	2		2	NIPBL	5	36985957	Missense_Mutation	SNP	G	11LU022_TP	3302016	36985957	144552302	285	957											
C5orf42	0	.	GRCh38	chr5	37165662	37165662	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctctttctcagctctTcttctttgcctgttaaacat	6	18	5	12	0	5	0	1	0	5	0	6	0	5	0	1	0	5	4	1	0	2	5	novel		11LU022_TP	11LU022_NB	T	T																c.7410A>T	p.Arg2470Ser	p.R2470S	ENST00000425232	36/52	108	85	23	88	88	0	strelka-varscan-mutect	C5orf42,missense_variant,p.Arg2470Ser,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Arg2470Ser,ENST00000508244,;C5orf42,missense_variant,p.Arg1518Ser,ENST00000514429,;C5orf42,missense_variant,p.Arg161Ser,ENST00000511824,;C5orf42,upstream_gene_variant,,ENST00000511210,;C5orf42,missense_variant,p.Arg1474Ser,ENST00000509849,;C5orf42,downstream_gene_variant,,ENST00000511781,;C5orf42,upstream_gene_variant,,ENST00000510830,;	A	ENST00000425232	Transcript	missense_variant	7641/11199	7410/9594	2470/3197	R/S	agA/agT		1		-1	C5orf42	HGNC	HGNC:25801	protein_coding	YES	CCDS34146.2	ENSP00000389014	Q9H799		UPI0001AAB3EA	NM_023073.3	deleterious(0.03)		36/52		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	37165662	37165662	T	A	1	0	0	0	0	1	0	0	0	2100	1780	62	4		4	C5orf42	5	37165662	Missense_Mutation	SNP	T	11LU022_TP	179705	37165662	144372597	286	958											
MRPS30	0	.	GRCh38	chr5	44809134	44809134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacagccgacagcaaagctGcacggctgcggcggatcgag	10	4	15	12	5	0	1	0	1	0	0	1	4	0	2	1	3	5	4	1	3	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.172G>T	p.Ala58Ser	p.A58S	ENST00000507110	1/5	284	234	50	275	275	0	strelka-varscan-mutect	MRPS30,missense_variant,p.Ala58Ser,ENST00000507110,NM_016640.3;RP11-53O19.1,upstream_gene_variant,,ENST00000503179,;RP11-53O19.1,upstream_gene_variant,,ENST00000503452,;RP11-53O19.1,upstream_gene_variant,,ENST00000505401,;RP11-53O19.1,upstream_gene_variant,,ENST00000514597,;RP11-53O19.1,upstream_gene_variant,,ENST00000508123,;RP11-53O19.1,upstream_gene_variant,,ENST00000505302,;RP11-53O19.1,upstream_gene_variant,,ENST00000508945,;RP11-53O19.1,upstream_gene_variant,,ENST00000505637,;MRPS30,upstream_gene_variant,,ENST00000515647,;MRPS30,upstream_gene_variant,,ENST00000508129,;	T	ENST00000507110	Transcript	missense_variant	210/1678	172/1320	58/439	A/S	Gca/Tca		1		1	MRPS30	HGNC	HGNC:8769	protein_coding	YES	CCDS3951.1	ENSP00000424328	Q9NP92		UPI000013C944	NM_016640.3	deleterious(0)		1/5		hmmpanther:PTHR13014,Pfam_domain:PF07147																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	44809134	44809134	G	T	1	0	0	0	0	1	0	0	0	9817	1319	46	2		2	MRPS30	5	44809134	Missense_Mutation	SNP	G	11LU022_TP	7643472	44809134	136729125	287	959											
HCN1	0	.	GRCh38	chr5	45262454	45262454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcatagtggaaagttcgagCggccagagggctctgtacag	10	7	16	8	2	1	1	0	0	1	1	2	3	1	2	1	4	2	4	1	4	3	3	rs775543627		11LU022_TP	11LU022_NB	C	C																c.2140G>T	p.Ala714Ser	p.A714S	ENST00000303230	8/8	133	115	18	132	132	0	strelka-varscan-mutect	HCN1,missense_variant,p.Ala714Ser,ENST00000303230,NM_021072.3;HCN1,non_coding_transcript_exon_variant,,ENST00000637305,;	A	ENST00000303230	Transcript	missense_variant	2381/9885	2140/2673	714/890	A/S	Gct/Tct	rs775543627,COSM738675	1		-1	HCN1	HGNC	HGNC:4845	protein_coding	YES	CCDS3952.1	ENSP00000307342	O60741		UPI00001AED69	NM_021072.3	tolerated_low_confidence(0.85)		8/8		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs775543627	.												A	3	1	3	45262454	45262454	C	A	1	0	0	0	0	1	0	0	0	6883	768	27	1		1	HCN1	5	45262454	Missense_Mutation	SNP	C	11LU022_TP	453320	45262454	136275805	288	960											
ISL1	0	.	GRCh38	chr5	51391292	51391292	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatatccaggggatgacaGgaactcccatggtggctgcc	11	7	13	10	0	0	2	0	1	0	1	2	4	2	4	3	5	2	1	3	5	3	1			11LU022_TP	11LU022_NB	G	G																c.784G>C	p.Gly262Arg	p.G262R	ENST00000230658	5/6	109	98	11	162	162	0	strelka-varscan-mutect	ISL1,missense_variant,p.Gly262Arg,ENST00000230658,NM_002202.2;ISL1,intron_variant,,ENST00000511384,;ISL1,non_coding_transcript_exon_variant,,ENST00000505475,;	C	ENST00000230658	Transcript	missense_variant	1065/2459	784/1050	262/349	G/R	Gga/Cga	COSM3855461	1		1	ISL1	HGNC	HGNC:6132	protein_coding	YES	CCDS43314.1	ENSP00000230658	P61371		UPI0000023E3A	NM_002202.2	deleterious(0.02)		5/6		hmmpanther:PTHR24204											1						MODERATE	1	SNV	1		1	1										PASS		rs1235320706	.												C	3	2	3	51391292	51391292	G	C	1	0	0	0	0	1	0	0	0	7763	1001	35	4		4	ISL1	5	51391292	Missense_Mutation	SNP	G	11LU022_TP	6128838	51391292	130146967	289	961											
SNX18	0	.	GRCh38	chr5	54518460	54518460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtggcggacgagccgggcGctctgggcagcggagcatac	6	4	19	12	6	1	0	0	0	1	0	1	3	1	2	1	6	4	3	1	6	1	1	novel		11LU022_TP	11LU022_NB	G	G																c.508G>T	p.Ala170Ser	p.A170S	ENST00000343017	1/1	163	114	49	167	167	0	strelka-varscan-mutect	SNX18,missense_variant,p.Ala170Ser,ENST00000381410,NM_001102575.1;SNX18,missense_variant,p.Ala170Ser,ENST00000343017,NM_052870.2;SNX18,missense_variant,p.Ala170Ser,ENST00000326277,NM_001145427.1;	T	ENST00000343017	Transcript	missense_variant	596/3140	508/1887	170/628	A/S	Gct/Tct		1		1	SNX18	HGNC	HGNC:19245	protein_coding	YES	CCDS3962.1	ENSP00000342276	Q96RF0		UPI00001418B0	NM_052870.2	tolerated(0.24)		1/1		hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF13,PIRSF_domain:PIRSF027744																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	54518460	54518460	G	T	1	0	0	0	0	1	0	0	0	15210	1087	38	1		1	SNX18	5	54518460	Missense_Mutation	SNP	G	11LU022_TP	3127168	54518460	127019799	290	962											
NDUFAF2	0	.	GRCh38	chr5	61073192	61073192	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagtagactatgaagcaggGgatattccaacagaatggga	16	7	13	5	0	0	3	0	1	0	2	1	6	1	5	1	3	2	2	1	3	7	4	novel		11LU022_TP	11LU022_NB	G	G																c.195G>T	p.=	p.G65G	ENST00000296597	2/4	155	137	18	293	292	1	strelka-varscan-mutect	NDUFAF2,synonymous_variant,p.=,ENST00000296597,NM_174889.4;NDUFAF2,synonymous_variant,p.=,ENST00000502658,;NDUFAF2,intron_variant,,ENST00000511107,;NDUFAF2,non_coding_transcript_exon_variant,,ENST00000512623,;	T	ENST00000296597	Transcript	synonymous_variant	322/719	195/510	65/169	G	ggG/ggT		1		1	NDUFAF2	HGNC	HGNC:28086	protein_coding	YES	CCDS3979.1	ENSP00000296597	Q8N183	A0A0S2Z5U1	UPI000006D648	NM_174889.4			2/4		Pfam_domain:PF05071,hmmpanther:PTHR32470,hmmpanther:PTHR32470:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	61073192	61073192	G	T	1	0	0	0	0	0	0	0	1	10296	1219	43	2		2	NDUFAF2	5	61073192	Silent	SNP	G	11LU022_TP	6554732	61073192	120465067	291	963											
HTR1A	0	.	GRCh38	chr5	63961321	63961321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtgatggcccagtacctGtccagcgcgatggcgcacag	7	7	13	14	4	0	1	0	1	0	0	2	2	2	1	4	2	2	2	4	2	1	1	rs753948744		11LU022_TP	11LU022_NB	G	G																c.399C>A	p.Asp133Glu	p.D133E	ENST00000323865	1/1	181	163	18	269	269	0	strelka-varscan-mutect	HTR1A,missense_variant,p.Asp133Glu,ENST00000323865,NM_000524.3;HTR1A,downstream_gene_variant,,ENST00000506598,;RP11-158J3.2,intron_variant,,ENST00000502882,;	T	ENST00000323865	Transcript	missense_variant	813/1778	399/1269	133/422	D/E	gaC/gaA	rs753948744	1		-1	HTR1A	HGNC	HGNC:5286	protein_coding	YES	CCDS34168.1	ENSP00000316244	P08908	Q5ZGX3	UPI0000124F1A	NM_000524.3	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF20,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE		SNV				1										PASS		rs753948744	.												T	3	4	3	63961321	63961321	G	T	1	0	0	0	0	1	0	0	0	7332	1368	48	2		2	HTR1A	5	63961321	Missense_Mutation	SNP	G	11LU022_TP	2888129	63961321	117576938	292	964											
MAST4	0	.	GRCh38	chr5	67145294	67145294	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatgaggagccaggaaaGccagcccttcctcctgaaga	11	5	10	15	0	0	3	0	2	0	1	2	5	2	5	7	2	3	0	7	2	2	1	novel		11LU022_TP	11LU022_NB	G	G																c.3009G>A	p.=	p.K1003K	ENST00000403625	23/29	336	296	40	314	314	0	strelka-varscan-mutect	MAST4,synonymous_variant,p.=,ENST00000403625,NM_001164664.1;MAST4,synonymous_variant,p.=,ENST00000405643,NM_001290226.1;MAST4,synonymous_variant,p.=,ENST00000261569,NM_001290227.1,NM_001297651.1;MAST4,synonymous_variant,p.=,ENST00000403666,NM_015183.2;MAST4,synonymous_variant,p.=,ENST00000443808,;MAST4,downstream_gene_variant,,ENST00000485768,;	A	ENST00000403625	Transcript	synonymous_variant	3304/10711	3009/7872	1003/2623	K	aaG/aaA		1		1	MAST4	HGNC	HGNC:19037	protein_coding	YES	CCDS54861.1	ENSP00000385727		J3QT34	UPI000173A2B0	NM_001164664.1			23/29		hmmpanther:PTHR24356:SF224,hmmpanther:PTHR24356																	LOW	1	SNV	5			1										PASS		rs934000304	.												A	2	1	3	67145294	67145294	G	A	1	0	0	0	0	0	0	0	1	9253	962	34	3		3	MAST4	5	67145294	Silent	SNP	G	11LU022_TP	3183973	67145294	114392965	293	965											
PIK3R1	0	.	GRCh38	chr5	68280949	68280949	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgataatactgaaaacctcAtaaaagttatagaaatttta	19	13	4	5	0	1	3	1	2	0	1	1	3	1	3	1	0	2	1	1	0	10	7	novel		11LU022_TP	11LU022_NB	A	A																c.859A>T	p.Ile287Leu	p.I287L	ENST00000521381	7/16	61	48	13	92	92	0	strelka-varscan-mutect	PIK3R1,missense_variant,p.Ile287Leu,ENST00000521381,NM_181523.2;PIK3R1,missense_variant,p.Ile287Leu,ENST00000521657,;PIK3R1,missense_variant,p.Ile17Leu,ENST00000522084,;PIK3R1,missense_variant,p.Ile17Leu,ENST00000523807,;PIK3R1,downstream_gene_variant,,ENST00000520675,;	T	ENST00000521381	Transcript	missense_variant	1475/7011	859/2175	287/724	I/L	Ata/Tta		1		1	PIK3R1	HGNC	HGNC:8979	protein_coding	YES	CCDS3993.1	ENSP00000428056	P27986		UPI000013D9FF	NM_181523.2	tolerated(0.34)		7/16		PROSITE_profiles:PS50238,hmmpanther:PTHR10155:SF3,hmmpanther:PTHR10155,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	68280949	68280949	A	T	1	0	0	0	0	1	0	0	0	12013	217	8	4		4	PIK3R1	5	68280949	Missense_Mutation	SNP	A	11LU022_TP	1135655	68280949	113257310	294	966											
AK6	0	.	GRCh38	chr5	69355715	69355715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaaactatatgaaaccagCgttcagggaagaaatcacaa	20	6	7	8	1	2	2	2	1	0	1	2	3	2	3	1	1	3	1	1	1	8	3	rs560641299		11LU022_TP	11LU022_NB	C	C																c.260G>T	p.Arg87Leu	p.R87L	ENST00000380822	4/5	85	69	16	112	112	0	strelka-varscan-mutect	AK6,missense_variant,p.Arg87Leu,ENST00000380822,NM_016283.4;AK6,missense_variant,p.Arg84Leu,ENST00000380818,NM_001015891.1;AK6,missense_variant,p.Arg56Leu,ENST00000512561,;AK6,missense_variant,p.Arg87Leu,ENST00000618980,;AK6,intron_variant,,ENST00000502819,;	A	ENST00000380822	Transcript	missense_variant	312/1648	260/519	87/172	R/L	cGc/cTc	rs560641299	1		-1	AK6	HGNC	HGNC:49151	protein_coding	YES	CCDS4001.1	ENSP00000370201	Q9Y3D8		UPI0000037723	NM_016283.4	deleterious(0)		4/5		HAMAP:MF_00039,hmmpanther:PTHR12595,hmmpanther:PTHR12595:SF0,Gene3D:3.40.50.300,Pfam_domain:PF13238,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs560641299	.												A	3	1	3	69355715	69355715	C	A	1	0	0	0	0	1	0	0	0	523	768	27	1		1	AK6	5	69355715	Missense_Mutation	SNP	C	11LU022_TP	1074766	69355715	112182544	295	967											
TAF9	0	.	GRCh38	chr5	69365653	69365653	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactcttggctcatattctgTaatccccatatccttcagga	10	14	5	12	0	4	0	2	0	2	0	6	1	6	1	3	2	1	2	3	2	4	6	novel		11LU022_TP	11LU022_NB	T	T																c.85A>G	p.Thr29Ala	p.T29A	ENST00000328663	3/3	38	34	4	57	57	0	strelka-varscan-mutect	TAF9,missense_variant,p.Thr29Ala,ENST00000328663,NM_001015892.1;TAF9,missense_variant,p.Thr29Ala,ENST00000506736,;TAF9,missense_variant,p.Thr29Ala,ENST00000217893,NM_003187.4;TAF9,missense_variant,p.Thr29Ala,ENST00000508954,;TAF9,missense_variant,p.Thr29Ala,ENST00000503245,;TAF9,missense_variant,p.Thr29Ala,ENST00000509462,;TAF9,missense_variant,p.Thr29Ala,ENST00000504109,;TAF9,missense_variant,p.Thr29Ala,ENST00000512152,;AK6,intron_variant,,ENST00000380822,NM_016283.4;AK6,intron_variant,,ENST00000380818,NM_001015891.1;AK6,intron_variant,,ENST00000502819,;AK6,intron_variant,,ENST00000512561,;AK6,intron_variant,,ENST00000618980,;RAD17,upstream_gene_variant,,ENST00000509734,;RAD17,upstream_gene_variant,,ENST00000354868,NM_133338.2;RAD17,upstream_gene_variant,,ENST00000616683,NM_001278622.1;RAD17,upstream_gene_variant,,ENST00000361732,NM_133343.1;RAD17,upstream_gene_variant,,ENST00000354312,NM_133342.2;RAD17,upstream_gene_variant,,ENST00000345306,NM_133344.2;RAD17,upstream_gene_variant,,ENST00000521422,;RAD17,upstream_gene_variant,,ENST00000512785,;RAD17,upstream_gene_variant,,ENST00000506564,;RAD17,upstream_gene_variant,,ENST00000507927,;RAD17,upstream_gene_variant,,ENST00000504177,;RAD17,upstream_gene_variant,,ENST00000511349,;RAD17,upstream_gene_variant,,ENST00000514066,;	C	ENST00000328663	Transcript	missense_variant	552/1461	85/795	29/264	T/A	Aca/Gca		1		-1	TAF9	HGNC	HGNC:11542	protein_coding	YES	CCDS4002.1	ENSP00000370193	Q16594		UPI000000D8A6	NM_001015892.1	tolerated(0.13)		3/3		Gene3D:1.10.20.10,Pfam_domain:PF02291,hmmpanther:PTHR12595,hmmpanther:PTHR12595:SF8,Superfamily_domains:SSF47113																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	3	69365653	69365653	T	C	1	0	0	0	0	1	0	0	0	15931	1638	57	5		5	TAF9	5	69365653	Missense_Mutation	SNP	T	11LU022_TP	9938	69365653	112172606	296	968											
BTF3	0	.	GRCh38	chr5	73502521	73502521	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagaagaaggtggttcatAgaacagccacagcagatgac	17	5	12	7	0	1	5	1	1	0	4	1	6	1	5	1	2	3	2	1	2	5	2	novel		11LU022_TP	11LU022_NB	A	A																c.235A>T	p.Arg79Ter	p.R79*	ENST00000380591	3/6	82	64	18	110	110	0	strelka-varscan-mutect	BTF3,stop_gained,p.Arg79Ter,ENST00000380591,NM_001037637.1;BTF3,stop_gained,p.Arg35Ter,ENST00000335895,NM_001207.4;BTF3,intron_variant,,ENST00000507081,;BTF3,upstream_gene_variant,,ENST00000509708,;RP11-79P5.9,upstream_gene_variant,,ENST00000607001,;BTF3,non_coding_transcript_exon_variant,,ENST00000514505,;BTF3,non_coding_transcript_exon_variant,,ENST00000514360,;BTF3,non_coding_transcript_exon_variant,,ENST00000508901,;BTF3,non_coding_transcript_exon_variant,,ENST00000510787,;BTF3,downstream_gene_variant,,ENST00000512257,;	T	ENST00000380591	Transcript	stop_gained	454/1237	235/621	79/206	R/*	Aga/Tga		1		1	BTF3	HGNC	HGNC:1125	protein_coding	YES	CCDS34185.1	ENSP00000369965	P20290		UPI0000049C1C	NM_001037637.1			3/6		hmmpanther:PTHR10351																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	3	73502521	73502521	A	T	1	0	0	0	0	0	1	0	0	1727	412	15	4		4	BTF3	5	73502521	Nonsense_Mutation	SNP	A	11LU022_TP	4136868	73502521	108035738	297	969											
SV2C	0	.	GRCh38	chr5	76285858	76285858	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagcccggggtcagcctgaGaaggtcttcacggtgagtct	8	8	15	10	2	4	3	2	2	2	2	4	4	4	3	2	4	2	0	2	4	1	1	novel		11LU022_TP	11LU022_NB	G	G																c.1125G>A	p.=	p.E375E	ENST00000502798	6/13	121	108	13	110	110	0	strelka-varscan-mutect	SV2C,synonymous_variant,p.=,ENST00000502798,NM_014979.3;SV2C,synonymous_variant,p.=,ENST00000322285,NM_001297716.1;RP11-466P24.6,non_coding_transcript_exon_variant,,ENST00000502589,;PDCD5P2,downstream_gene_variant,,ENST00000507570,;	A	ENST00000502798	Transcript	synonymous_variant	1567/11035	1125/2184	375/727	E	gaG/gaA		1		1	SV2C	HGNC	HGNC:30670	protein_coding	YES	CCDS43331.1	ENSP00000423541	Q496J9		UPI000011DDBB	NM_014979.3			6/13		PROSITE_profiles:PS50850,hmmpanther:PTHR23511:SF6,hmmpanther:PTHR23511,TIGRFAM_domain:TIGR01299																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	76285858	76285858	G	A	1	0	0	0	0	0	0	0	1	15803	933	33	3		3	SV2C	5	76285858	Silent	SNP	G	11LU022_TP	2783337	76285858	105252401	298	970											
F2RL2	0	.	GRCh38	chr5	76618404	76618404	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaactacaaacaccaggagGtagatggcaggtatcagttt	14	8	10	9	0	1	1	1	0	0	1	1	2	1	2	2	4	3	4	2	4	5	4	novel		11LU022_TP	11LU022_NB	G	G																c.303C>T	p.=	p.Y101Y	ENST00000296641	2/2	278	242	36	360	359	1	strelka-varscan-mutect	F2RL2,synonymous_variant,p.=,ENST00000296641,NM_004101.3;F2RL2,synonymous_variant,p.=,ENST00000504899,NM_001256566.1;IQGAP2,intron_variant,,ENST00000274364,NM_006633.3;IQGAP2,intron_variant,,ENST00000379730,NM_001285460.1;IQGAP2,intron_variant,,ENST00000505766,;IQGAP2,intron_variant,,ENST00000502745,NM_001285462.1;IQGAP2,intron_variant,,ENST00000396234,NM_001285461.1;IQGAP2,intron_variant,,ENST00000514350,;IQGAP2,intron_variant,,ENST00000514001,;IQGAP2,intron_variant,,ENST00000509074,;IQGAP2,intron_variant,,ENST00000515505,;IQGAP2,intron_variant,,ENST00000504254,;IQGAP2,intron_variant,,ENST00000513534,;	A	ENST00000296641	Transcript	synonymous_variant	507/3429	303/1125	101/374	Y	taC/taT		1		-1	F2RL2	HGNC	HGNC:3539	protein_coding	YES	CCDS4031.1	ENSP00000296641	O00254		UPI0000050431	NM_004101.3			2/2		Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR01428,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF0,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	76618404	76618404	G	A	1	0	0	0	0	0	0	0	1	5213	1256	44	3		3	F2RL2	5	76618404	Silent	SNP	G	11LU022_TP	332546	76618404	104919855	299	971											
F2R	0	.	GRCh38	chr5	76732740	76732740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgattggcagtttgggtCtgaattgtgtcgcttcgtca	6	15	13	7	2	2	2	1	2	1	0	4	2	2	2	0	2	0	3	0	2	1	4	novel		11LU022_TP	11LU022_NB	C	C																c.515C>A	p.Ser172Tyr	p.S172Y	ENST00000319211	2/2	440	350	90	507	506	1	strelka-varscan-mutect	F2R,missense_variant,p.Ser172Tyr,ENST00000319211,NM_001992.3;	A	ENST00000319211	Transcript	missense_variant	780/3821	515/1278	172/425	S/Y	tCt/tAt		1		1	F2R	HGNC	HGNC:3537	protein_coding	YES	CCDS4032.1	ENSP00000321326	P25116	A0A024RAP7	UPI0000131312	NM_001992.3	deleterious(0.03)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24232:SF20,hmmpanther:PTHR24232,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01428																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	76732740	76732740	C	A	1	0	0	0	0	1	0	0	0	5211	913	32	2		2	F2R	5	76732740	Missense_Mutation	SNP	C	11LU022_TP	114336	76732740	104805519	300	972											
AP3B1	0	.	GRCh38	chr5	78128077	78128077	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgggtcgggcgccacctCtggccaattagataattcca	9	10	11	11	2	1	2	0	1	1	1	3	2	2	2	4	3	0	0	4	3	3	3	novel		11LU022_TP	11LU022_NB	C	C																c.1921G>T	p.Glu641Ter	p.E641*	ENST00000255194	17/27	326	297	29	331	331	0	strelka-varscan-mutect	AP3B1,stop_gained,p.Glu641Ter,ENST00000255194,NM_003664.4;AP3B1,stop_gained,p.Glu592Ter,ENST00000519295,NM_001271769.1;AP3B1,non_coding_transcript_exon_variant,,ENST00000517561,;	A	ENST00000255194	Transcript	stop_gained	2097/5838	1921/3285	641/1094	E/*	Gag/Tag		1		-1	AP3B1	HGNC	HGNC:566	protein_coding	YES	CCDS4041.1	ENSP00000255194	O00203	A0A0S2Z5J4	UPI00001AE77D	NM_003664.4			17/27		Gene3D:1.25.10.10,PIRSF_domain:PIRSF037096,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF10																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	3	78128077	78128077	C	A	1	0	0	0	0	0	1	0	0	860	922	32	2		2	AP3B1	5	78128077	Nonsense_Mutation	SNP	C	11LU022_TP	1395337	78128077	103410182	301	973											
THBS4	0	.	GRCh38	chr5	80059757	80059757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgcccccggctccccCtgcaccgccaacacgcccac	5	4	10	22	3	0	0	0	0	0	0	1	0	1	0	7	3	3	2	7	3	1	0	novel		11LU022_TP	11LU022_NB	C	C																c.839C>T	p.Pro280Leu	p.P280L	ENST00000350881	7/22	154	123	31	177	177	0	strelka-varscan-mutect	THBS4,missense_variant,p.Pro280Leu,ENST00000350881,NM_001306213.1,NM_003248.4;THBS4,missense_variant,p.Pro189Leu,ENST00000511733,NM_001306212.1,NM_001306214.1;CTD-2201I18.1,intron_variant,,ENST00000503007,;THBS4,downstream_gene_variant,,ENST00000513310,;THBS4,downstream_gene_variant,,ENST00000510218,;	T	ENST00000350881	Transcript	missense_variant	1029/3222	839/2886	280/961	P/L	cCt/cTt		1		1	THBS4	HGNC	HGNC:11788	protein_coding	YES	CCDS4049.1	ENSP00000339730	P35443		UPI000013D591	NM_001306213.1,NM_003248.4	tolerated(0.35)		7/22		Low_complexity_(Seg):seg,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF92																	MODERATE	1	SNV	1			1										PASS		rs1332467099	.												T	3	4	3	80059757	80059757	C	T	1	0	0	0	0	1	0	0	0	16289	681	24	3		3	THBS4	5	80059757	Missense_Mutation	SNP	C	11LU022_TP	1931680	80059757	101478502	302	974											
VCAN	0	.	GRCh38	chr5	83522184	83522184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctacacagccaacaagacCacccactgtggaagacaaag	16	4	8	13	0	0	2	0	0	0	2	0	3	0	3	3	1	4	1	3	1	5	1	novel		11LU022_TP	11LU022_NB	C	C																c.3878C>A	p.Pro1293Gln	p.P1293Q	ENST00000265077	7/15	72	66	6	117	117	0	strelka-varscan-mutect	VCAN,missense_variant,p.Pro1293Gln,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Pro1293Gln,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Pro1245Gln,ENST00000512590,;VCAN,intron_variant,,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,intron_variant,,ENST00000515397,;	A	ENST00000265077	Transcript	missense_variant	4443/12625	3878/10191	1293/3396	P/Q	cCa/cAa		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	deleterious(0.04)		7/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	83522184	83522184	C	A	1	0	0	0	0	1	0	0	0	17683	594	21	2		2	VCAN	5	83522184	Missense_Mutation	SNP	C	11LU022_TP	3462427	83522184	98016075	303	975											
EDIL3	0	.	GRCh38	chr5	83963282	83963282	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagccagtttgtaggagcCaacaaactgtacatgaccaa	15	8	9	9	0	0	1	0	1	0	0	0	2	0	2	3	1	5	4	3	1	6	4	novel		11LU022_TP	11LU022_NB	C	C																c.1216G>T	p.Gly406Cys	p.G406C	ENST00000296591	10/11	130	108	22	131	131	0	strelka-varscan-mutect	EDIL3,missense_variant,p.Gly406Cys,ENST00000296591,NM_005711.4;EDIL3,missense_variant,p.Gly396Cys,ENST00000380138,NM_001278642.1;	A	ENST00000296591	Transcript	missense_variant	1635/4727	1216/1443	406/480	G/C	Ggc/Tgc		1		-1	EDIL3	HGNC	HGNC:3173	protein_coding	YES	CCDS4062.1	ENSP00000296591	O43854		UPI000004D126	NM_005711.4	deleterious(0)		10/11		PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127,Gene3D:2.60.120.260,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	83963282	83963282	C	A	1	0	0	0	0	1	0	0	0	4743	594	21	2		2	EDIL3	5	83963282	Missense_Mutation	SNP	C	11LU022_TP	441098	83963282	97574977	304	976											
KIAA0825	0	.	GRCh38	chr5	94403773	94403773	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcggatgacctctagctCgtactccacgcacgttgaga	9	9	10	13	4	1	2	0	2	1	1	4	4	2	3	2	1	2	5	2	1	2	3	novel		11LU022_TP	11LU022_NB	C	C																c.2683G>T	p.Glu895Ter	p.E895*	ENST00000513200	15/20	144	125	19	158	158	0	strelka-varscan-mutect	KIAA0825,stop_gained,p.Glu895Ter,ENST00000513200,NM_001145678.1;	A	ENST00000513200	Transcript	stop_gained	2756/4942	2683/3828	895/1275	E/*	Gag/Tag		1		-1	KIAA0825	HGNC	HGNC:28532	protein_coding			ENSP00000424618		A0A088AWM3	UPI0001D3B505	NM_001145678.1			15/20		hmmpanther:PTHR33960:SF1,hmmpanther:PTHR33960																	HIGH	1	SNV	5			1										PASS		rs1253398964	.												A	4	1	3	94403773	94403773	C	A	1	0	0	0	0	0	1	0	0	8091	893	31	1		1	KIAA0825	5	94403773	Nonsense_Mutation	SNP	C	11LU022_TP	10440491	94403773	87134486	305	977											
LIX1	0	.	GRCh38	chr5	97094809	97094809	+	Frame_Shift_Del	DEL	G	G	-																															cactgggtgaggaagtgtcaGggtcactgcagatctgagtc																								novel		11LU022_TP	11LU022_NB	G	G																c.788delC	p.Pro263LeufsTer11	p.P263Lfs*11	ENST00000274382	6/6	136	111	25	201	201	0	sindel-varindel-pindel	LIX1,frameshift_variant,p.Pro263LeufsTer11,ENST00000274382,NM_153234.4;CTD-2215E18.1,intron_variant,,ENST00000504578,;	-	ENST00000274382	Transcript	frameshift_variant	1084/4026	788/849	263/282	P/X	cCt/ct		1		-1	LIX1	HGNC	HGNC:18581	protein_coding	YES	CCDS4088.1	ENSP00000274382	Q8N485		UPI000007388A	NM_153234.4			6/6		hmmpanther:PTHR31139,Low_complexity_(Seg):seg																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	3	97094809	97094809	G	-	1	0	1	0	1	0	0	0	0	8754	1000	35	0		0	LIX1	5	97094809	Frame_Shift_Del	DEL	G	11LU022_TP	2691036	97094809	84443450	306	978											
SLCO6A1	0	.	GRCh38	chr5	102459697	102459697	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgacaatggtattaatgtaCaccatgcaacgacagcggca	15	8	9	9	2	0	1	0	1	0	0	0	2	0	1	1	2	4	4	1	2	5	3	novel		11LU022_TP	11LU022_NB	C	C																c.980G>T	p.Cys327Phe	p.C327F	ENST00000506729	5/14	125	105	20	134	134	0	strelka-varscan-mutect	SLCO6A1,missense_variant,p.Cys327Phe,ENST00000506729,NM_001289002.1,NM_173488.4;SLCO6A1,missense_variant,p.Cys327Phe,ENST00000379807,;SLCO6A1,missense_variant,p.Cys265Phe,ENST00000389019,NM_001289004.1;SLCO6A1,intron_variant,,ENST00000513675,NM_001308014.1;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000514551,;SLCO6A1,intron_variant,,ENST00000505739,;	A	ENST00000506729	Transcript	missense_variant	1152/2689	980/2160	327/719	C/F	tGt/tTt		1		-1	SLCO6A1	HGNC	HGNC:23613	protein_coding	YES	CCDS34206.1	ENSP00000421339	Q86UG4	A0A140VJU7	UPI000020C392	NM_001289002.1,NM_173488.4	tolerated(0.12)		5/14		Transmembrane_helices:TMhelix,hmmpanther:PTHR11388:SF95,hmmpanther:PTHR11388,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,Pfam_domain:PF03137,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	102459697	102459697	C	A	1	0	0	0	0	1	0	0	0	15019	478	17	2		2	SLCO6A1	5	102459697	Missense_Mutation	SNP	C	11LU022_TP	5364888	102459697	79078562	307	979											
SLC25A46	0	.	GRCh38	chr5	110742046	110742046	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatttttttttactttaGaacagctgaatagatttgct	10	21	5	5	0	1	3	0	1	1	2	1	3	1	3	0	0	4	2	0	0	6	11	novel		11LU022_TP	11LU022_NB	G	G																c.284-1G>T		p.X95_splice	ENST00000355943		81	74	7	142	142	0	strelka-varscan-mutect	SLC25A46,splice_acceptor_variant,,ENST00000355943,NM_138773.2;SLC25A46,splice_acceptor_variant,,ENST00000447245,NM_001303249.1;SLC25A46,splice_acceptor_variant,,ENST00000513807,NM_001303250.1;SLC25A46,5_prime_UTR_variant,,ENST00000504098,;TMEM232,upstream_gene_variant,,ENST00000515278,;TMEM232,upstream_gene_variant,,ENST00000512886,;SLC25A46,splice_acceptor_variant,,ENST00000508781,;TMEM232,upstream_gene_variant,,ENST00000503527,;SLC25A46,upstream_gene_variant,,ENST00000502462,;	T	ENST00000355943	Transcript	splice_acceptor_variant	-/2385	284/1257	95/418				1		1	SLC25A46	HGNC	HGNC:25198	protein_coding	YES	CCDS4100.1	ENSP00000348211	Q96AG3		UPI00000711AA	NM_138773.2				1/7																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	3	110742046	110742046	G	T	1	0	0	0	0	0	0	1	0	14776	956	33	2		2	SLC25A46	5	110742046	Splice_Site	SNP	G	11LU022_TP	8282349	110742046	70796213	308	980											
YTHDC2	0	.	GRCh38	chr5	113535641	113535641	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttatttctgtttactataGgatgaagtgcatgaaaggga	12	16	10	3	0	1	2	0	2	1	0	1	4	1	4	0	2	2	2	0	2	6	7	novel		11LU022_TP	11LU022_NB	G	G																c.946-1G>C		p.X316_splice	ENST00000161863		43	34	9	69	69	0	strelka-varscan-mutect	YTHDC2,splice_acceptor_variant,,ENST00000161863,NM_022828.3;YTHDC2,splice_acceptor_variant,,ENST00000515883,;YTHDC2,splice_acceptor_variant,,ENST00000503857,;	C	ENST00000161863	Transcript	splice_acceptor_variant	-/6316	946/4293	316/1430				1		1	YTHDC2	HGNC	HGNC:24721	protein_coding	YES	CCDS4113.1	ENSP00000161863	Q9H6S0		UPI0000367311	NM_022828.3				6/29																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	3	113535641	113535641	G	C	1	0	0	0	0	0	0	1	0	18058	1014	35	4		4	YTHDC2	5	113535641	Splice_Site	SNP	G	11LU022_TP	2793595	113535641	68002618	309	981											
HSD17B4	0	.	GRCh38	chr5	119529909	119529909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggtccaagaaactggaGacattgtcatttcaaatgca	15	10	8	8	0	2	2	2	0	0	2	3	3	3	2	1	2	2	1	1	2	4	3			11LU022_TP	11LU022_NB	G	G																c.1858G>T	p.Asp620Tyr	p.D620Y	ENST00000504811	22/25	220	174	46	287	287	0	strelka-varscan-mutect	HSD17B4,missense_variant,p.Asp620Tyr,ENST00000504811,NM_001199291.2;HSD17B4,missense_variant,p.Asp595Tyr,ENST00000256216,NM_000414.3;HSD17B4,missense_variant,p.Asp571Tyr,ENST00000510025,NM_001292027.1;HSD17B4,missense_variant,p.Asp455Tyr,ENST00000414835,NM_001292028.1;HSD17B4,missense_variant,p.Asp577Tyr,ENST00000515320,NM_001199292.1;HSD17B4,missense_variant,p.Asp333Tyr,ENST00000509514,;HSD17B4,missense_variant,p.Asp458Tyr,ENST00000513628,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000522415,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000509951,;HSD17B4,downstream_gene_variant,,ENST00000518349,;HSD17B4,downstream_gene_variant,,ENST00000520244,;HSD17B4,3_prime_UTR_variant,,ENST00000442060,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000515235,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000509606,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000507353,;	T	ENST00000504811	Transcript	missense_variant	2042/2740	1858/2286	620/761	D/Y	Gac/Tac	COSM297575	1		1	HSD17B4	HGNC	HGNC:5213	protein_coding	YES	CCDS56379.1	ENSP00000420914	P51659		UPI0001AE7403	NM_001199291.2	deleterious(0.01)		22/25		Gene3D:3.10.129.10,Pfam_domain:PF01575,hmmpanther:PTHR13078,hmmpanther:PTHR13078:SF53,Superfamily_domains:SSF54637											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	3	119529909	119529909	G	T	1	0	0	0	0	1	0	0	0	7281	942	33	2		2	HSD17B4	5	119529909	Missense_Mutation	SNP	G	11LU022_TP	5994268	119529909	62008350	310	982											
FTMT	0	.	GRCh38	chr5	121852095	121852095	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggaccccaggcagatcgcCccccgccgccccctggccgc	4	4	11	22	4	0	1	0	0	0	1	1	2	0	2	9	3	0	1	9	3	0	1	rs750748977		11LU022_TP	11LU022_NB	C	C																c.132C>A	p.=	p.A44A	ENST00000321339	1/1	89	74	15	116	116	0	strelka-varscan-mutect	FTMT,synonymous_variant,p.=,ENST00000321339,NM_177478.1;	A	ENST00000321339	Transcript	synonymous_variant	141/879	132/729	44/242	A	gcC/gcA	rs750748977	1		1	FTMT	HGNC	HGNC:17345	protein_coding	YES	CCDS4128.1	ENSP00000313691	Q8N4E7		UPI000006F87E	NM_177478.1			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11431:SF30,hmmpanther:PTHR11431																	LOW	1	SNV				1										PASS		rs750748977	.												A	2	1	3	121852095	121852095	C	A	1	0	0	0	0	0	0	0	1	5959	610	22	2		2	FTMT	5	121852095	Silent	SNP	C	11LU022_TP	2322186	121852095	59686164	311	983											
MEGF10	0	.	GRCh38	chr5	127438453	127438453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagcatgtccacctgccCactggggcccaaactgcatc	8	9	8	16	0	1	0	1	0	0	0	3	0	2	0	4	2	4	2	4	2	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.2119C>A	p.His707Asn	p.H707N	ENST00000274473	18/26	127	108	19	148	147	1	strelka-varscan-mutect	MEGF10,missense_variant,p.His707Asn,ENST00000274473,NM_032446.2;MEGF10,missense_variant,p.His707Asn,ENST00000503335,NM_001256545.1;MEGF10,non_coding_transcript_exon_variant,,ENST00000506709,;	A	ENST00000274473	Transcript	missense_variant	2386/7594	2119/3423	707/1140	H/N	Cac/Aac		1		1	MEGF10	HGNC	HGNC:29634	protein_coding	YES	CCDS4142.1	ENSP00000274473	Q96KG7		UPI000006F868	NM_032446.2	tolerated(0.19)		18/26		PD936484,hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	127438453	127438453	C	A	1	0	0	0	0	1	0	0	0	9400	594	21	2		2	MEGF10	5	127438453	Missense_Mutation	SNP	C	11LU022_TP	5586358	127438453	54099806	312	984											
FBN2	0	.	GRCh38	chr5	128345529	128345529	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcggaactttccaggaacGgggtggatgcattcatcttc	9	11	12	9	2	2	0	1	0	1	0	4	3	3	3	1	5	4	1	1	5	2	3	rs371640952		11LU022_TP	11LU022_NB	G	G																c.3045C>T	p.=	p.P1015P	ENST00000508053	30/71	452	372	80	543	542	1	strelka-varscan-mutect	FBN2,synonymous_variant,p.=,ENST00000508053,;FBN2,synonymous_variant,p.=,ENST00000262464,NM_001999.3;FBN2,synonymous_variant,p.=,ENST00000619499,;FBN2,synonymous_variant,p.=,ENST00000508989,;	A	ENST00000508053	Transcript	synonymous_variant	4020/11132	3045/8739	1015/2912	P	ccC/ccT	rs371640952,COSM4776000,COSM4776001	1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468				30/71		Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,Superfamily_domains:SSF57581										benign	0,1,1						LOW	1	SNV	5		1,1,1	1										PASS		rs371640952	.												A	2	1	3	128345529	128345529	G	A	1	0	0	0	0	0	0	0	1	5566	1103	39	1		1	FBN2	5	128345529	Silent	SNP	G	11LU022_TP	907076	128345529	53192730	313	985											
SAR1B	0	.	GRCh38	chr5	134606975	134606975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatgtactgtgccatccagCggaagccttctccgtaacct	9	10	8	14	2	1	0	0	0	1	0	3	1	2	1	5	1	5	2	5	1	4	3	rs200409139		11LU022_TP	11LU022_NB	C	C																c.572G>T	p.Arg191Leu	p.R191L	ENST00000402673	7/7	348	310	38	411	411	0	strelka-varscan-mutect	SAR1B,missense_variant,p.Arg191Leu,ENST00000402673,NM_016103.3;SAR1B,missense_variant,p.Arg123Leu,ENST00000507419,;SAR1B,missense_variant,p.Arg191Leu,ENST00000439578,NM_001033503.2;SAR1B,missense_variant,p.Arg123Leu,ENST00000502539,;SAR1B,missense_variant,p.Arg123Leu,ENST00000509937,;SAR1B,downstream_gene_variant,,ENST00000505758,;SAR1B,downstream_gene_variant,,ENST00000502286,;SAR1B,downstream_gene_variant,,ENST00000509730,;SAR1B,non_coding_transcript_exon_variant,,ENST00000508363,;SAR1B,downstream_gene_variant,,ENST00000503318,;	A	ENST00000402673	Transcript	missense_variant	851/6682	572/597	191/198	R/L	cGc/cTc	rs200409139	1		-1	SAR1B	HGNC	HGNC:10535	protein_coding	YES	CCDS4177.1	ENSP00000385432	Q9Y6B6		UPI0000135569	NM_016103.3	deleterious(0.02)		7/7		PROSITE_profiles:PS51422,hmmpanther:PTHR11711:SF133,hmmpanther:PTHR11711,Pfam_domain:PF00025,Gene3D:3.40.50.300,SMART_domains:SM00178,SMART_domains:SM00177,Superfamily_domains:SSF52540,Prints_domain:PR00328																	MODERATE	1	SNV	1			1										PASS		rs200409139	.												A	3	1	3	134606975	134606975	C	A	1	0	0	0	0	1	0	0	0	14100	768	27	1		1	SAR1B	5	134606975	Missense_Mutation	SNP	C	11LU022_TP	6261446	134606975	46931284	314	986											
NRG2	0	.	GRCh38	chr5	139887412	139887412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catccttgaaccaacggtagGaaggctggggattaccggct	10	8	13	10	2	0	1	0	1	0	0	1	3	1	3	3	6	3	3	3	6	5	3	novel		11LU022_TP	11LU022_NB	G	G																c.800C>A	p.Ser267Tyr	p.S267Y	ENST00000361474	2/10	200	157	43	255	255	0	strelka-varscan-mutect	NRG2,missense_variant,p.Ser267Tyr,ENST00000541337,NM_001184935.1;NRG2,missense_variant,p.Ser267Tyr,ENST00000361474,NM_004883.2;NRG2,missense_variant,p.Ser267Tyr,ENST00000289422,NM_013982.2;NRG2,missense_variant,p.Ser267Tyr,ENST00000358522,NM_013983.2;NRG2,missense_variant,p.Ser267Tyr,ENST00000289409,NM_013981.3;NRG2,missense_variant,p.Ser64Tyr,ENST00000340391,;NRG2,non_coding_transcript_exon_variant,,ENST00000518130,;NRG2,missense_variant,p.Ser267Tyr,ENST00000378238,;	T	ENST00000361474	Transcript	missense_variant	1025/3020	800/2553	267/850	S/Y	tCc/tAc		1		-1	NRG2	HGNC	HGNC:7998	protein_coding	YES	CCDS4217.1	ENSP00000354910	O14511		UPI0000130507	NM_004883.2	deleterious(0)		2/10		PROSITE_profiles:PS50835,hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF20,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	139887412	139887412	G	T	1	0	0	0	0	1	0	0	0	10706	1174	41	2		2	NRG2	5	139887412	Missense_Mutation	SNP	G	11LU022_TP	5280437	139887412	41650847	315	987											
PCDHA1	0	.	GRCh38	chr5	140788417	140788417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccatctgcgcggtgtccagCctgctggtgctcacactgct	4	10	12	15	2	2	0	1	0	1	0	3	0	3	0	3	2	5	3	3	2	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.2127C>A	p.Ser709Arg	p.S709R	ENST00000504120	1/4	391	295	96	433	433	0	strelka-varscan-mutect	PCDHA1,missense_variant,p.Ser709Arg,ENST00000504120,NM_018900.3;PCDHA1,missense_variant,p.Ser709Arg,ENST00000378133,NM_031410.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,downstream_gene_variant,,ENST00000624712,;AC005609.16,downstream_gene_variant,,ENST00000624176,;	A	ENST00000504120	Transcript	missense_variant	2127/5263	2127/2853	709/950	S/R	agC/agA		1		1	PCDHA1	HGNC	HGNC:8663	protein_coding	YES	CCDS54913.1	ENSP00000420840	Q9Y5I3		UPI00001273C7	NM_018900.3	deleterious_low_confidence(0.01)		1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	140788417	140788417	C	A	1	0	0	0	0	1	0	0	0	11606	738	26	2		2	PCDHA1	5	140788417	Missense_Mutation	SNP	C	11LU022_TP	901005	140788417	40749842	316	988											
PCDHA11	0	.	GRCh38	chr5	140870536	140870536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcttcacagtgtcggCgcgggacgcggacgcgcagg	7	5	15	14	7	2	0	1	0	1	0	3	2	2	2	1	4	0	1	1	4	0	1	rs782205013		11LU022_TP	11LU022_NB	C	C																c.1433C>A	p.Ala478Glu	p.A478E	ENST00000398640	1/4	680	604	76	862	861	1	strelka-varscan-mutect	PCDHA11,missense_variant,p.Ala478Glu,ENST00000398640,NM_018902.4;PCDHA11,missense_variant,p.Ala478Glu,ENST00000616325,NM_031861.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA10,downstream_gene_variant,,ENST00000562220,NM_031859.2;PCDHA12,upstream_gene_variant,,ENST00000398631,NM_018903.3;PCDHA12,upstream_gene_variant,,ENST00000613593,NM_031864.2;PCDHA11,upstream_gene_variant,,ENST00000617408,;AC005609.18,downstream_gene_variant,,ENST00000624566,;AC005609.20,upstream_gene_variant,,ENST00000625071,;	A	ENST00000398640	Transcript	missense_variant	2291/6115	1433/2850	478/949	A/E	gCg/gAg	rs782205013	1		1	PCDHA11	HGNC	HGNC:8665	protein_coding	YES	CCDS47284.1	ENSP00000381636	Q9Y5I1		UPI00001273D4	NM_018902.4	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs782205013	.												A	3	1	3	140870536	140870536	C	A	1	0	0	0	0	1	0	0	0	11608	768	27	1		1	PCDHA11	5	140870536	Missense_Mutation	SNP	C	11LU022_TP	82119	140870536	40667723	317	989											
PCDHB7	0	.	GRCh38	chr5	141174974	141174974	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggcggtgcggctgtgcagGaggagcagggcggccccggt	4	5	22	10	4	0	0	0	0	0	0	0	2	0	2	2	8	3	3	2	8	0	0	rs146189351		11LU022_TP	11LU022_NB	G	G																c.2139G>A	p.=	p.R713R	ENST00000231137	1/1	363	309	54	434	434	0	strelka-varscan-mutect	PCDHB7,synonymous_variant,p.=,ENST00000231137,NM_018940.3;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.4;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,upstream_gene_variant,,ENST00000625128,;AC005754.7,upstream_gene_variant,,ENST00000624802,;CH17-140K24.4,upstream_gene_variant,,ENST00000623995,;	A	ENST00000231137	Transcript	synonymous_variant	2356/3765	2139/2382	713/793	R	agG/agA	rs146189351,COSM5201049	1		1	PCDHB7	HGNC	HGNC:8692	protein_coding	YES	CCDS4249.1	ENSP00000231137	Q9Y5E2		UPI00001273E3	NM_018940.3			1/1		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69											0,1						LOW		SNV			0,1	1										PASS		rs146189351	.												A	2	1	3	141174974	141174974	G	A	1	0	0	0	0	0	0	0	1	11634	1165	41	3		3	PCDHB7	5	141174974	Silent	SNP	G	11LU022_TP	304438	141174974	40363285	318	990											
PCDHB9	0	.	GRCh38	chr5	141189218	141189218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccaggctgctgagcgagcgcGacgcggccaagcacaggctg	8	3	16	14	5	0	1	0	1	0	0	0	3	0	1	2	3	4	4	2	3	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.1900G>C	p.Asp634His	p.D634H	ENST00000316105	1/1	552	479	73	768	768	0	varscan-mutect	PCDHB9,missense_variant,p.Asp634His,ENST00000316105,NM_019119.4;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.3;PCDHB16,downstream_gene_variant,,ENST00000625044,;PCDHB9,downstream_gene_variant,,ENST00000624909,;CH17-140K24.5,downstream_gene_variant,,ENST00000623884,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,upstream_gene_variant,,ENST00000624089,;CH17-140K24.6,downstream_gene_variant,,ENST00000625144,;PCDHB9,downstream_gene_variant,,ENST00000623266,;CH17-140K24.5,downstream_gene_variant,,ENST00000623407,;	C	ENST00000316105	Transcript	missense_variant	2092/4415	1900/2394	634/797	D/H	Gac/Cac		1		1	PCDHB9	HGNC	HGNC:8694	protein_coding	YES	CCDS75328.1	ENSP00000478606	Q9Y5E1		UPI00005764A0	NM_019119.4	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF128,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												C	3	2	3	141189218	141189218	G	C	1	0	0	0	0	1	0	0	0	11636	1058	37	4		4	PCDHB9	5	141189218	Missense_Mutation	SNP	G	11LU022_TP	14244	141189218	40349041	319	991											
PCDHGA7	0	.	GRCh38	chr5	141383017	141383017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actccgtgtcggaggagacgGacaaagggtcctttgtggga	9	8	16	8	3	0	1	0	0	0	1	3	5	2	4	2	5	0	0	2	5	1	1	novel		11LU022_TP	11LU022_NB	G	G																c.118G>T	p.Asp40Tyr	p.D40Y	ENST00000518325	1/4	140	124	16	194	194	0	strelka-varscan-mutect	PCDHGA7,missense_variant,p.Asp40Tyr,ENST00000518325,NM_018920.3;PCDHGA7,missense_variant,p.Asp40Tyr,ENST00000617050,NM_032087.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA6,downstream_gene_variant,,ENST00000610583,NM_032086.1;PCDHGB4,upstream_gene_variant,,ENST00000615384,NM_032098.1;PCDHGB4,upstream_gene_variant,,ENST00000519479,NM_003736.2;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000518325	Transcript	missense_variant	118/4605	118/2799	40/932	D/Y	Gac/Tac		1		1	PCDHGA7	HGNC	HGNC:8705	protein_coding	YES	CCDS54927.1	ENSP00000430024	Q9Y5G6		UPI000007146F	NM_018920.3	deleterious_low_confidence(0)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF08266,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF56,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	141383017	141383017	G	T	1	0	0	0	0	1	0	0	0	11646	1174	41	2		2	PCDHGA7	5	141383017	Missense_Mutation	SNP	G	11LU022_TP	193799	141383017	40155242	320	992											
PCDHGB4	0	.	GRCh38	chr5	141389888	141389888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgccgacagcttgcaggaGgtgctgccggatatcactga	8	9	13	11	3	1	1	1	1	0	0	2	4	1	3	2	3	4	3	2	3	1	3			11LU022_TP	11LU022_NB	G	G																c.2004G>T	p.Glu668Asp	p.E668D	ENST00000519479	1/4	257	218	39	311	311	0	strelka-varscan-mutect	PCDHGB4,missense_variant,p.Glu668Asp,ENST00000615384,NM_032098.1;PCDHGB4,missense_variant,p.Glu668Asp,ENST00000519479,NM_003736.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA8,upstream_gene_variant,,ENST00000610569,NM_014004.2;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1;PCDHGA7,downstream_gene_variant,,ENST00000617050,NM_032087.2;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000519479	Transcript	missense_variant	2004/4578	2004/2772	668/923	E/D	gaG/gaT	COSM1063196	1		1	PCDHGB4	HGNC	HGNC:8711	protein_coding	YES	CCDS54928.1	ENSP00000428288	Q9UN71		UPI000006F773	NM_003736.2	tolerated(0.22)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF117,hmmpanther:PTHR24028,SMART_domains:SM00112											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	3	141389888	141389888	G	T	1	0	0	0	0	1	0	0	0	11652	991	35	2		2	PCDHGB4	5	141389888	Missense_Mutation	SNP	G	11LU022_TP	6871	141389888	40148371	321	993											
PCDHGA8	0	.	GRCh38	chr5	141394457	141394457	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcagcaacatgtcactGagcctgttcgtgctggacca	9	9	10	13	1	2	1	2	1	0	0	3	2	2	2	2	1	5	4	2	1	1	1	rs375756271		11LU022_TP	11LU022_NB	G	G																c.1644G>T	p.=	p.L548L	ENST00000398604	1/4	440	348	92	617	617	0	strelka-varscan-mutect	PCDHGA8,synonymous_variant,p.=,ENST00000610569,NM_014004.2;PCDHGA8,synonymous_variant,p.=,ENST00000398604,NM_032088.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB4,downstream_gene_variant,,ENST00000615384,NM_032098.1;PCDHGB5,upstream_gene_variant,,ENST00000617380,NM_018925.2;PCDHGB5,upstream_gene_variant,,ENST00000621169,NM_032099.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000398604	Transcript	synonymous_variant	1644/4605	1644/2799	548/932	L	ctG/ctT	rs375756271	1		1	PCDHGA8	HGNC	HGNC:8706	protein_coding	YES	CCDS47291.1	ENSP00000381605	Q9Y5G5		UPI000006FC06	NM_032088.1			1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF72,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs375756271	.												T	2	4	3	141394457	141394457	G	T	1	0	0	0	0	0	0	0	1	11647	1277	45	2		2	PCDHGA8	5	141394457	Silent	SNP	G	11LU022_TP	4569	141394457	40143802	322	994											
ARHGAP26	0	.	GRCh38	chr5	143041816	143041816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcactgtttctttcctcagGgatcaacgagcaagggctgt	9	12	10	10	1	4	0	3	0	1	0	5	2	5	1	1	2	2	3	1	2	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.1211G>T	p.Gly404Val	p.G404V	ENST00000274498	14/23	176	159	17	182	181	1	strelka-varscan-mutect	ARHGAP26,missense_variant,p.Gly404Val,ENST00000378004,NM_001135608.1;ARHGAP26,missense_variant,p.Gly404Val,ENST00000274498,NM_015071.4;ARHGAP26,missense_variant,p.Gly23Val,ENST00000443674,;ARHGAP26,downstream_gene_variant,,ENST00000451259,;ARHGAP26,splice_region_variant,,ENST00000469396,;ARHGAP26,downstream_gene_variant,,ENST00000470032,;ARHGAP26,splice_region_variant,,ENST00000469131,;	T	ENST00000274498	Transcript	missense_variant,splice_region_variant	1589/6862	1211/2445	404/814	G/V	gGg/gTg		1		1	ARHGAP26	HGNC	HGNC:17073	protein_coding	YES	CCDS4277.1	ENSP00000274498	Q9UNA1		UPI0000130D6B	NM_015071.4	deleterious(0)		14/23		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF4,SMART_domains:SM00324,Superfamily_domains:SSF48350																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	143041816	143041816	G	T	1	0	0	0	0	1	0	0	0	1000	1246	43	2		2	ARHGAP26	5	143041816	Missense_Mutation	SNP	G	11LU022_TP	1647359	143041816	38496443	323	995											
LARS	0	.	GRCh38	chr5	146131035	146131035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacctgaaactcaaaaaacCctgttttcaaagcttcttta	14	13	3	11	0	3	1	2	1	1	0	3	1	3	1	2	0	4	2	2	0	7	6	novel		11LU022_TP	11LU022_NB	C	C																c.2471G>T	p.Gly824Val	p.G824V	ENST00000394434	24/32	71	54	17	102	102	0	strelka-mutect	LARS,missense_variant,p.Gly824Val,ENST00000394434,NM_001317965.1,NM_020117.9;LARS,missense_variant,p.Gly770Val,ENST00000510191,;LARS,missense_variant,p.Gly133Val,ENST00000274562,;LARS,downstream_gene_variant,,ENST00000512412,;LARS,non_coding_transcript_exon_variant,,ENST00000506231,;LARS,upstream_gene_variant,,ENST00000508709,;LARS,upstream_gene_variant,,ENST00000504611,;	A	ENST00000394434	Transcript	missense_variant	2638/4766	2471/3531	824/1176	G/V	gGg/gTg		1		-1	LARS	HGNC	HGNC:6512	protein_coding	YES	CCDS34265.1	ENSP00000377954	Q9P2J5		UPI0000037316	NM_001317965.1,NM_020117.9	tolerated(0.08)		24/32		hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF51,Pfam_domain:PF08264,Gene3D:1.10.730.10,TIGRFAM_domain:TIGR00395,Superfamily_domains:SSF47323																	MODERATE	1	SNV	1			1										PASS		rs1441508981	.												A	3	1	3	146131035	146131035	C	A	1	0	0	0	0	1	0	0	0	8545	623	22	2		2	LARS	5	146131035	Missense_Mutation	SNP	C	11LU022_TP	3089219	146131035	35407224	324	996											
SLC6A7	0	.	GRCh38	chr5	150199349	150199349	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgtatcctcaagggtGtgaagtcttcgggcaaggtg	7	12	13	9	1	3	1	1	1	2	0	6	1	5	1	2	3	0	2	2	3	4	2	novel		11LU022_TP	11LU022_NB	G	G																c.706G>C	p.Val236Leu	p.V236L	ENST00000230671	5/14	72	63	9	90	90	0	strelka-varscan-mutect	SLC6A7,missense_variant,p.Val236Leu,ENST00000230671,NM_014228.3;SLC6A7,missense_variant,p.Val236Leu,ENST00000524041,;SLC6A7,downstream_gene_variant,,ENST00000513403,;	C	ENST00000230671	Transcript	missense_variant	1077/3739	706/1911	236/636	V/L	Gtg/Ctg		1		1	SLC6A7	HGNC	HGNC:11054	protein_coding	YES	CCDS4305.1	ENSP00000230671	Q99884		UPI000013C93C	NM_014228.3	deleterious(0.01)		5/14		PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF35,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	150199349	150199349	G	C	1	0	0	0	0	1	0	0	0	14972	1377	48	4		4	SLC6A7	5	150199349	Missense_Mutation	SNP	G	11LU022_TP	4068314	150199349	31338910	325	997											
SLC36A1	0	.	GRCh38	chr5	151479476	151479476	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttgtgcgcacagtgctGgtctgcctgacatgtgagta	6	13	13	9	1	1	2	0	2	1	0	1	2	1	2	1	1	3	4	1	1	1	2	novel		11LU022_TP	11LU022_NB	G	G																c.1146G>T	p.=	p.L382L	ENST00000243389	10/11	99	67	32	103	103	0	strelka-varscan-mutect	SLC36A1,synonymous_variant,p.=,ENST00000243389,NM_078483.2;SLC36A1,synonymous_variant,p.=,ENST00000520701,;SLC36A1,synonymous_variant,p.=,ENST00000521925,;SLC36A1,synonymous_variant,p.=,ENST00000616007,;SLC36A1,synonymous_variant,p.=,ENST00000517628,;RNA5SP197,upstream_gene_variant,,ENST00000363357,;SLC36A1,3_prime_UTR_variant,,ENST00000522185,;	T	ENST00000243389	Transcript	synonymous_variant	1369/5781	1146/1431	382/476	L	ctG/ctT		1		1	SLC36A1	HGNC	HGNC:18761	protein_coding	YES	CCDS4316.1	ENSP00000243389	Q7Z2H8		UPI00001A9D3C	NM_078483.2			10/11		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF188,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	151479476	151479476	G	T	1	0	0	0	0	0	0	0	1	14871	1335	47	2		2	SLC36A1	5	151479476	Silent	SNP	G	11LU022_TP	1280127	151479476	30058783	326	998											
TIMD4	0	.	GRCh38	chr5	156926293	156926293	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgttttgttctgctcAggaactgctgtatcagatgc	6	18	10	7	0	3	1	2	0	1	1	3	2	3	2	0	1	4	6	0	1	2	6	novel		11LU022_TP	11LU022_NB	A	A																c.864T>A	p.=	p.P288P	ENST00000274532	6/9	194	155	39	250	250	0	strelka-varscan-mutect	TIMD4,synonymous_variant,p.=,ENST00000274532,NM_138379.2;TIMD4,synonymous_variant,p.=,ENST00000407087,NM_001146726.1;TIMD4,5_prime_UTR_variant,,ENST00000406964,;APOOP1,downstream_gene_variant,,ENST00000604695,;	T	ENST00000274532	Transcript	synonymous_variant	921/1369	864/1137	288/378	P	ccT/ccA		1		-1	TIMD4	HGNC	HGNC:25132	protein_coding	YES	CCDS4332.1	ENSP00000274532	Q96H15		UPI000013DA13	NM_138379.2			6/9																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	156926293	156926293	A	T	1	0	0	0	0	0	0	0	1	16341	175	7	4		4	TIMD4	5	156926293	Silent	SNP	A	11LU022_TP	5446817	156926293	24611966	327	999											
ITK	0	.	GRCh38	chr5	157222982	157222982	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcctgctggacagttctgaGattcactggtggagagtcca	8	11	13	9	0	2	2	1	1	1	2	3	5	3	3	2	3	2	2	2	3	0	2	novel		11LU022_TP	11LU022_NB	G	G																c.615G>C	p.Glu205Asp	p.E205D	ENST00000422843	6/17	363	316	47	441	441	0	strelka-varscan-mutect	ITK,missense_variant,p.Glu205Asp,ENST00000422843,NM_005546.3;ITK,downstream_gene_variant,,ENST00000521769,;CTB-4E7.1,intron_variant,,ENST00000519375,;ITK,non_coding_transcript_exon_variant,,ENST00000519402,;ITK,non_coding_transcript_exon_variant,,ENST00000519759,;	C	ENST00000422843	Transcript	missense_variant	767/4528	615/1863	205/620	E/D	gaG/gaC		1		1	ITK	HGNC	HGNC:6171	protein_coding	YES	CCDS4336.1	ENSP00000398655	Q08881		UPI000004CADA	NM_005546.3	tolerated(1)		6/17		PROSITE_profiles:PS50002,hmmpanther:PTHR24418:SF61,hmmpanther:PTHR24418,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	157222982	157222982	G	C	1	0	0	0	0	1	0	0	0	7815	933	33	4		4	ITK	5	157222982	Missense_Mutation	SNP	G	11LU022_TP	296689	157222982	24315277	328	1000											
CYFIP2	0	.	GRCh38	chr5	157285425	157285425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcttgaagagcttcccCtccccgaccagcagccatgc	8	7	8	18	1	0	2	0	1	0	1	2	3	2	2	7	0	5	3	7	0	1	2	novel		11LU022_TP	11LU022_NB	C	C																c.64C>A	p.Leu22Ile	p.L22I	ENST00000616178	2/32	208	173	35	201	201	0	strelka-varscan-mutect	CYFIP2,missense_variant,p.Leu22Ile,ENST00000521420,NM_001291721.1;CYFIP2,missense_variant,p.Leu22Ile,ENST00000618329,NM_014376.3;CYFIP2,missense_variant,p.Leu22Ile,ENST00000616178,NM_001291722.1;CYFIP2,missense_variant,p.Leu22Ile,ENST00000620254,NM_001037333.2;CYFIP2,missense_variant,p.Leu22Ile,ENST00000435847,;CYFIP2,missense_variant,p.Leu22Ile,ENST00000522463,;CYFIP2,missense_variant,p.Leu22Ile,ENST00000611075,;CYFIP2,missense_variant,p.Leu22Ile,ENST00000617629,;CYFIP2,missense_variant,p.Leu22Ile,ENST00000611925,;CYFIP2,missense_variant,p.Leu22Ile,ENST00000621516,;CYFIP2,missense_variant,p.Leu22Ile,ENST00000522637,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000622696,;	A	ENST00000616178	Transcript	missense_variant	204/4210	64/3837	22/1278	L/I	Ctc/Atc		1		1	CYFIP2	HGNC	HGNC:13760	protein_coding	YES	CCDS78077.1	ENSP00000479719	Q96F07		UPI0000DC89D8	NM_001291722.1	tolerated(0.08)		2/32		hmmpanther:PTHR12195,hmmpanther:PTHR12195:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	157285425	157285425	C	A	1	0	0	0	0	1	0	0	0	3941	681	24	2		2	CYFIP2	5	157285425	Missense_Mutation	SNP	C	11LU022_TP	62443	157285425	24252834	329	1001											
ADAM19	0	.	GRCh38	chr5	157481888	157481888	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctggggaggctcctgcggCctggcactgggtttgccggg	2	8	19	12	2	0	0	0	0	0	0	1	1	1	1	4	7	2	3	4	7	0	1	novel		11LU022_TP	11LU022_NB	C	C																c.2606G>T	p.Gly869Val	p.G869V	ENST00000257527	22/23	126	109	17	145	145	0	strelka-varscan-mutect	ADAM19,missense_variant,p.Gly869Val,ENST00000257527,NM_033274.4;ADAM19,missense_variant,p.Gly869Val,ENST00000517905,;ADAM19,missense_variant,p.Gly440Val,ENST00000517374,;ADAM19,intron_variant,,ENST00000517951,;	A	ENST00000257527	Transcript	missense_variant	2685/6481	2606/2757	869/918	G/V	gGc/gTc		1		-1	ADAM19	HGNC	HGNC:197	protein_coding	YES	CCDS4338.1	ENSP00000257527	Q9H013		UPI000013CF6A	NM_033274.4	deleterious(0.05)		22/23																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	157481888	157481888	C	A	1	0	0	0	0	1	0	0	0	284	739	26	2		2	ADAM19	5	157481888	Missense_Mutation	SNP	C	11LU022_TP	196463	157481888	24056371	330	1002											
ATP10B	0	.	GRCh38	chr5	160606798	160606798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgacgcgcaacttgtctcGcaccagcttgactatcatac	10	10	7	14	3	2	2	1	2	1	0	3	2	2	2	1	0	3	3	1	0	3	4	rs748360139		11LU022_TP	11LU022_NB	G	G																c.3127C>G	p.Arg1043Gly	p.R1043G	ENST00000327245	19/26	139	117	22	187	187	0	strelka-varscan-mutect	ATP10B,missense_variant,p.Arg1043Gly,ENST00000327245,NM_025153.2;ATP10B,upstream_gene_variant,,ENST00000523758,;ATP10B,downstream_gene_variant,,ENST00000522169,;ATP10B,non_coding_transcript_exon_variant,,ENST00000517815,;	C	ENST00000327245	Transcript	missense_variant	3974/7566	3127/4386	1043/1461	R/G	Cga/Gga	rs748360139,COSM1486558	1		-1	ATP10B	HGNC	HGNC:13543	protein_coding	YES	CCDS43394.1	ENSP00000313600	O94823		UPI0000191DAE	NM_025153.2	deleterious(0.02)		19/26		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF79,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,Superfamily_domains:SSF56784											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs748360139	.												C	3	2	3	160606798	160606798	G	C	1	0	0	0	0	1	0	0	0	1269	1095	38	4		4	ATP10B	5	160606798	Missense_Mutation	SNP	G	11LU022_TP	3124910	160606798	20931461	331	1003											
GABRA1	0	.	GRCh38	chr5	161897311	161897311	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagtgtcagcaaaattgaCcgactgtcaagaatagcctt	15	9	8	9	1	2	2	2	1	0	1	2	3	2	2	2	0	3	1	2	0	6	3	rs760920254		11LU022_TP	11LU022_NB	C	C																c.1260C>A	p.Asp420Glu	p.D420E	ENST00000393943	10/10	230	204	26	261	261	0	strelka-varscan-mutect	GABRA1,missense_variant,p.Asp420Glu,ENST00000393943,NM_001127644.1,NM_001127648.1;GABRA1,missense_variant,p.Asp420Glu,ENST00000428797,NM_001127643.1;GABRA1,missense_variant,p.Asp435Glu,ENST00000638159,;GABRA1,missense_variant,p.Asp420Glu,ENST00000437025,NM_001127645.1;GABRA1,missense_variant,p.Asp420Glu,ENST00000638112,;GABRA1,missense_variant,p.Asp420Glu,ENST00000636573,;GABRA1,missense_variant,p.Asp420Glu,ENST00000023897,NM_000806.5;GABRA1,missense_variant,p.Asp420Glu,ENST00000637827,;GABRA1,missense_variant,p.Asp420Glu,ENST00000635880,;GABRA1,non_coding_transcript_exon_variant,,ENST00000636408,;GABRA1,3_prime_UTR_variant,,ENST00000637044,;GABRA1,3_prime_UTR_variant,,ENST00000636340,;	A	ENST00000393943	Transcript	missense_variant	2043/4686	1260/1371	420/456	D/E	gaC/gaA	rs760920254	1		1	GABRA1	HGNC	HGNC:4075	protein_coding	YES	CCDS4357.1	ENSP00000377517	P14867		UPI000012AF95	NM_001127644.1,NM_001127648.1	deleterious(0.01)		10/10		Gene3D:1.20.58.390,Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF514,Superfamily_domains:SSF90112																	MODERATE	1	SNV	1			1										PASS		rs760920254	.												A	3	1	3	161897311	161897311	C	A	1	0	0	0	0	1	0	0	0	6031	506	18	2		2	GABRA1	5	161897311	Missense_Mutation	SNP	C	11LU022_TP	1290513	161897311	19640948	332	1004											
WWC1	0	.	GRCh38	chr5	168409940	168409940	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcggcatcaacagcaacAatcagttggcagagaaggtc	14	7	11	9	1	2	1	2	0	0	1	4	2	2	1	0	3	3	5	0	3	4	2	novel		11LU022_TP	11LU022_NB	A	A																c.886A>G	p.Asn296Asp	p.N296D	ENST00000521089	8/23	218	177	41	268	268	0	strelka-varscan-mutect	WWC1,missense_variant,p.Asn296Asp,ENST00000265293,NM_015238.2;WWC1,missense_variant,p.Asn258Asp,ENST00000393895,;WWC1,missense_variant,p.Asn296Asp,ENST00000521089,NM_001161662.1,NM_001161661.1;WWC1,missense_variant,p.Asn73Asp,ENST00000524228,;WWC1,non_coding_transcript_exon_variant,,ENST00000517425,;WWC1,non_coding_transcript_exon_variant,,ENST00000517646,;WWC1,upstream_gene_variant,,ENST00000624315,;WWC1,downstream_gene_variant,,ENST00000523043,;WWC1,non_coding_transcript_exon_variant,,ENST00000519659,;WWC1,upstream_gene_variant,,ENST00000518334,;	G	ENST00000521089	Transcript	missense_variant	889/3562	886/3360	296/1119	N/D	Aat/Gat		1		1	WWC1	HGNC	HGNC:29435	protein_coding	YES	CCDS54945.1	ENSP00000427772	Q8IX03		UPI00017A7149	NM_001161662.1,NM_001161661.1	deleterious(0.01)		8/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF22																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	3	168409940	168409940	A	G	1	0	0	0	0	1	0	0	0	17969	130	5	5		5	WWC1	5	168409940	Missense_Mutation	SNP	A	11LU022_TP	6512629	168409940	13128319	333	1005											
FBLL1	0	.	GRCh38	chr5	168530431	168530431	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagcctcaagagcagctGaccctggagccctatgagcg	10	7	12	12	1	1	4	1	3	0	1	1	5	1	5	3	1	5	2	3	1	3	2	novel		11LU022_TP	11LU022_NB	G	G																c.927G>T	p.=	p.L309L	ENST00000338333	1/1	234	180	54	274	274	0	strelka-varscan-mutect	FBLL1,synonymous_variant,p.=,ENST00000338333,;	T	ENST00000338333	Transcript	synonymous_variant	1316/1519	927/1005	309/334	L	ctG/ctT		1		1	FBLL1	HGNC	HGNC:35458	protein_coding	YES		ENSP00000473383	A6NHQ2		UPI00006C099E				1/1		Gene3D:3.40.50.150,HAMAP:MF_00351,Pfam_domain:PF01269,Prints_domain:PR00052,hmmpanther:PTHR10335,hmmpanther:PTHR10335:SF6,SMART_domains:SM01206,Superfamily_domains:SSF53335																	LOW	1	SNV				1										PASS		.	.												T	2	4	3	168530431	168530431	G	T	1	0	0	0	0	0	0	0	1	5560	1277	45	2		2	FBLL1	5	168530431	Silent	SNP	G	11LU022_TP	120491	168530431	13007828	334	1006											
SLIT3	0	.	GRCh38	chr5	168708049	168708049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcccgttattcttgcacGggctggagaggcaggcattg	7	11	14	9	2	1	1	0	0	1	1	2	2	2	1	1	4	1	5	1	4	1	4	rs781009300		11LU022_TP	11LU022_NB	G	G																c.2792C>A	p.Pro931Gln	p.P931Q	ENST00000332966	26/36	263	229	34	295	295	0	strelka-varscan-mutect	SLIT3,missense_variant,p.Pro924Gln,ENST00000519560,NM_003062.3;SLIT3,missense_variant,p.Pro794Gln,ENST00000404867,;SLIT3,missense_variant,p.Pro931Gln,ENST00000332966,NM_001271946.1;CTC-558O2.1,non_coding_transcript_exon_variant,,ENST00000522615,;CTC-558O2.1,intron_variant,,ENST00000521870,;	T	ENST00000332966	Transcript	missense_variant	2865/4895	2792/4593	931/1530	P/Q	cCg/cAg	rs781009300,COSM1542863,COSM5302883,COSM5403046,COSM5403047	1		-1	SLIT3	HGNC	HGNC:11087	protein_coding	YES	CCDS64311.1	ENSP00000332164	O75094		UPI0001E8F75D	NM_001271946.1	deleterious(0)		26/36		PROSITE_profiles:PS50026,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs781009300	.												T	3	4	3	168708049	168708049	G	T	1	0	0	0	0	1	0	0	0	15032	1116	39	1		1	SLIT3	5	168708049	Missense_Mutation	SNP	G	11LU022_TP	177618	168708049	12830210	335	1007											
DOCK2	0	.	GRCh38	chr5	169718769	169718769	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgttcaagttcattgttCggtcgaggacattattttca	9	17	9	6	2	3	0	3	0	0	0	5	2	3	1	0	2	0	3	0	2	2	7	rs748633577		11LU022_TP	11LU022_NB	C	C																c.2245C>A	p.=	p.R749R	ENST00000256935	22/52	129	103	26	124	124	0	strelka-varscan-mutect	DOCK2,synonymous_variant,p.=,ENST00000256935,NM_004946.2;DOCK2,synonymous_variant,p.=,ENST00000520908,;DOCK2,intron_variant,,ENST00000540750,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520836,;DOCK2,synonymous_variant,p.=,ENST00000524185,;	A	ENST00000256935	Transcript	synonymous_variant	2325/6097	2245/5493	749/1830	R	Cgg/Agg	rs748633577,COSM1696721	1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2			22/52		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Superfamily_domains:SSF48371											0,1						LOW	1	SNV	1		0,1	1										PASS		rs748633577	.												A	2	1	3	169718769	169718769	C	A	1	0	0	0	0	0	0	0	1	4502	875	31	1		1	DOCK2	5	169718769	Silent	SNP	C	11LU022_TP	1010720	169718769	11819490	336	1008											
FAM196B	0	.	GRCh38	chr5	169883091	169883091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttaagttcctctgtgcCtggtgtgtggctggcaacgc	5	13	14	9	1	1	0	0	0	1	0	2	0	2	0	2	4	2	4	2	4	2	3	novel		11LU022_TP	11LU022_NB	C	C																c.808G>T	p.Gly270Cys	p.G270C	ENST00000377365	2/4	144	114	30	171	170	1	strelka-varscan-mutect	FAM196B,missense_variant,p.Gly270Cys,ENST00000377365,NM_001129891.1;DOCK2,intron_variant,,ENST00000256935,NM_004946.2;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;	A	ENST00000377365	Transcript	missense_variant	2190/2999	808/1608	270/535	G/C	Ggc/Tgc		1		-1	FAM196B	HGNC	HGNC:37271	protein_coding	YES	CCDS47336.1	ENSP00000366582	A6NMK8		UPI0000480500	NM_001129891.1	tolerated(0.07)		2/4		Pfam_domain:PF15265,hmmpanther:PTHR28682,hmmpanther:PTHR28682:SF2																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	3	169883091	169883091	C	A	1	0	0	0	0	1	0	0	0	5374	681	24	2		2	FAM196B	5	169883091	Missense_Mutation	SNP	C	11LU022_TP	164322	169883091	11655168	337	1009											
DOCK2	0	.	GRCh38	chr5	170019066	170019066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accataccaatcttcttcgaCatgatgctgtgtgaatatca	12	13	6	10	1	3	2	1	2	2	0	4	3	3	2	2	0	2	1	2	0	4	4	novel		11LU022_TP	11LU022_NB	C	C																c.3339C>A	p.Asp1113Glu	p.D1113E	ENST00000256935	33/52	202	171	31	218	217	1	strelka-varscan-mutect	DOCK2,missense_variant,p.Asp1113Glu,ENST00000256935,NM_004946.2;DOCK2,missense_variant,p.Asp605Glu,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,3_prime_UTR_variant,,ENST00000433448,;	A	ENST00000256935	Transcript	missense_variant	3419/6097	3339/5493	1113/1830	D/E	gaC/gaA		1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2	deleterious(0)		33/52		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	170019066	170019066	C	A	1	0	0	0	0	1	0	0	0	4502	477	17	2		2	DOCK2	5	170019066	Missense_Mutation	SNP	C	11LU022_TP	135975	170019066	11519193	338	1010											
DOCK2	0	.	GRCh38	chr5	170079135	170079135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaagcagctgcagagtcgGacctgaagcgggtgagtggc	11	5	17	8	2	0	4	0	2	0	2	1	5	0	5	1	3	4	3	1	3	2	0	novel		11LU022_TP	11LU022_NB	G	G																c.5155G>T	p.Asp1719Tyr	p.D1719Y	ENST00000256935	49/52	126	109	17	117	117	0	strelka-varscan-mutect	DOCK2,missense_variant,p.Asp1719Tyr,ENST00000256935,NM_004946.2;DOCK2,missense_variant,p.Asp1211Tyr,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519868,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	T	ENST00000256935	Transcript	missense_variant	5235/6097	5155/5493	1719/1830	D/Y	Gac/Tac		1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2	deleterious_low_confidence(0.01)		49/52		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	170079135	170079135	G	T	1	0	0	0	0	1	0	0	0	4502	1174	41	2		2	DOCK2	5	170079135	Missense_Mutation	SNP	G	11LU022_TP	60069	170079135	11459124	339	1011											
NEURL1B	0	.	GRCh38	chr5	172669926	172669926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggacggccactcgcgccGggccacacggcgcaacagct	7	3	14	17	6	0	0	0	0	0	0	1	1	0	1	3	4	2	3	3	4	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.173G>T	p.Arg58Leu	p.R58L	ENST00000369800	2/5	74	60	14	75	75	0	strelka-varscan-mutect	NEURL1B,missense_variant,p.Arg58Leu,ENST00000369800,NM_001142651.1;NEURL1B,missense_variant,p.Arg58Leu,ENST00000520919,NM_001308178.1;NEURL1B,intron_variant,,ENST00000522853,;	T	ENST00000369800	Transcript	missense_variant	314/6424	173/1668	58/555	R/L	cGg/cTg		1		1	NEURL1B	HGNC	HGNC:35422	protein_coding	YES	CCDS47342.1	ENSP00000358815	A8MQ27		UPI0000D6E5EA	NM_001142651.1	tolerated(0.07)		2/5		PROSITE_profiles:PS51065,hmmpanther:PTHR12429,Pfam_domain:PF07177,SMART_domains:SM00588																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	172669926	172669926	G	T	1	0	0	0	0	1	0	0	0	10381	1116	39	1		1	NEURL1B	5	172669926	Missense_Mutation	SNP	G	11LU022_TP	2590791	172669926	8868333	340	1012											
UNC5A	0	.	GRCh38	chr5	176868854	176868854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatacatcacgcgggagcAcagcctggtggtgcgacagg	9	7	15	10	3	1	0	1	0	0	0	1	2	1	1	1	4	4	2	1	4	2	2	novel		11LU022_TP	11LU022_NB	A	A																c.611A>G	p.His204Arg	p.H204R	ENST00000329542	5/15	94	87	7	161	161	0	strelka-varscan-mutect	UNC5A,missense_variant,p.His204Arg,ENST00000329542,NM_133369.2;UNC5A,missense_variant,p.His170Arg,ENST00000509580,;UNC5A,3_prime_UTR_variant,,ENST00000513890,;	G	ENST00000329542	Transcript	missense_variant	885/3812	611/2529	204/842	H/R	cAc/cGc		1		1	UNC5A	HGNC	HGNC:12567	protein_coding	YES	CCDS34299.1	ENSP00000332737	Q6ZN44		UPI0000047F37	NM_133369.2	tolerated(0.15)		5/15		PROSITE_profiles:PS50835,hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	176868854	176868854	A	G	1	0	0	0	0	1	0	0	0	17515	159	6	5		5	UNC5A	5	176868854	Missense_Mutation	SNP	A	11LU022_TP	4198928	176868854	4669405	341	1013											
DDX41	0	.	GRCh38	chr5	177513388	177513388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggcagccccagcgcgccCcacattgatggtcacaggct	7	6	12	16	2	1	1	1	1	0	0	1	1	1	1	4	3	2	3	4	3	0	1			11LU022_TP	11LU022_NB	C	C																c.1195G>T	p.Gly399Trp	p.G399W	ENST00000507955	11/17	224	174	50	309	309	0	strelka-varscan-mutect	DDX41,missense_variant,p.Gly399Trp,ENST00000507955,NM_016222.2;DDX41,missense_variant,p.Gly417Trp,ENST00000330503,;DOK3,upstream_gene_variant,,ENST00000312943,NM_001144875.1;DOK3,upstream_gene_variant,,ENST00000377112,NM_001144876.1;DOK3,upstream_gene_variant,,ENST00000501403,NM_001308236.1,NM_001308235.1;DOK3,upstream_gene_variant,,ENST00000357198,NM_024872.2;DOK3,upstream_gene_variant,,ENST00000510380,;DDX41,downstream_gene_variant,,ENST00000629036,;DOK3,upstream_gene_variant,,ENST00000509310,;DOK3,upstream_gene_variant,,ENST00000506493,;DOK3,upstream_gene_variant,,ENST00000502885,;DOK3,upstream_gene_variant,,ENST00000510389,;DOK3,upstream_gene_variant,,ENST00000510898,;DDX41,downstream_gene_variant,,ENST00000625286,;DDX41,downstream_gene_variant,,ENST00000506965,;DDX41,non_coding_transcript_exon_variant,,ENST00000505081,;DDX41,non_coding_transcript_exon_variant,,ENST00000503078,;DDX41,non_coding_transcript_exon_variant,,ENST00000507900,;DDX41,non_coding_transcript_exon_variant,,ENST00000504807,;DDX41,non_coding_transcript_exon_variant,,ENST00000511040,;DDX41,non_coding_transcript_exon_variant,,ENST00000512027,;DOK3,upstream_gene_variant,,ENST00000500323,;DDX41,downstream_gene_variant,,ENST00000515562,;DOK3,upstream_gene_variant,,ENST00000502380,;DDX41,downstream_gene_variant,,ENST00000512431,;DDX41,downstream_gene_variant,,ENST00000509576,;DDX41,downstream_gene_variant,,ENST00000508279,;DDX41,upstream_gene_variant,,ENST00000512334,;DDX41,downstream_gene_variant,,ENST00000504781,;DDX41,downstream_gene_variant,,ENST00000510171,;DOK3,upstream_gene_variant,,ENST00000512660,;DDX41,downstream_gene_variant,,ENST00000513562,;	A	ENST00000507955	Transcript	missense_variant	1719/2607	1195/1869	399/622	G/W	Ggg/Tgg	COSM591522	1		-1	DDX41	HGNC	HGNC:18674	protein_coding	YES	CCDS4427.1	ENSP00000422753	Q9UJV9		UPI0000125164	NM_016222.2	deleterious(0)		11/17		hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF20,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	3	177513388	177513388	C	A	1	0	0	0	0	1	0	0	0	4164	623	22	2		2	DDX41	5	177513388	Missense_Mutation	SNP	C	11LU022_TP	644534	177513388	4024871	342	1014											
GRM6	0	.	GRCh38	chr5	178989337	178989337	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttaaaattctcttcccAgaactcggcgaaccagatgt	12	10	8	11	2	1	2	0	0	1	2	4	3	2	2	2	1	2	2	2	1	4	3	rs769552577		11LU022_TP	11LU022_NB	A	A																c.1081T>A	p.Trp361Arg	p.W361R	ENST00000231188	5/10	252	209	43	427	427	0	strelka-varscan-mutect	GRM6,missense_variant,p.Trp361Arg,ENST00000231188,NM_000843.3;GRM6,missense_variant,p.Trp361Arg,ENST00000517717,;RP11-281O15.4,intron_variant,,ENST00000519491,;GRM6,upstream_gene_variant,,ENST00000518082,;GRM6,upstream_gene_variant,,ENST00000519003,;	T	ENST00000231188	Transcript	missense_variant	1260/6143	1081/2634	361/877	W/R	Tgg/Agg	rs769552577,COSM4585759	1		-1	GRM6	HGNC	HGNC:4598	protein_coding	YES	CCDS4442.1	ENSP00000231188	O15303		UPI000013C947	NM_000843.3	deleterious(0)		5/10		hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF24,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs769552577	.												T	3	4	3	178989337	178989337	A	T	1	0	0	0	0	1	0	0	0	6683	188	7	4		4	GRM6	5	178989337	Missense_Mutation	SNP	A	11LU022_TP	1475949	178989337	2548922	343	1015											
MAK	0	.	GRCh38	chr6	10802041	10802041	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catagaggatgccagctggtAtccttctggccagtcactct	8	11	10	12	0	3	1	1	0	2	1	4	2	4	2	3	3	2	2	3	3	2	3	novel		11LU022_TP	11LU022_NB	A	A																c.682T>A	p.Tyr228Asn	p.Y228N	ENST00000354489	8/15	160	145	15	166	166	0	strelka-varscan-mutect	MAK,missense_variant,p.Tyr228Asn,ENST00000313243,;MAK,missense_variant,p.Tyr228Asn,ENST00000354489,NM_001242957.1;MAK,missense_variant,p.Tyr228Asn,ENST00000474039,NM_005906.4;MAK,missense_variant,p.Tyr228Asn,ENST00000536370,NM_001242385.1;MAK,missense_variant,p.Tyr228Asn,ENST00000538030,;TMEM14B,intron_variant,,ENST00000489137,;TMEM14B,intron_variant,,ENST00000463448,;RP11-637O19.3,intron_variant,,ENST00000480294,;TMEM14B,intron_variant,,ENST00000473166,;TMEM14B,intron_variant,,ENST00000460341,;TMEM14B,intron_variant,,ENST00000473807,;TMEM14B,intron_variant,,ENST00000463100,;TMEM14B,intron_variant,,ENST00000467229,;TMEM14B,intron_variant,,ENST00000478732,;	T	ENST00000354489	Transcript	missense_variant	964/3941	682/1947	228/648	Y/N	Tac/Aac		1		-1	MAK	HGNC	HGNC:6816	protein_coding	YES	CCDS75399.1	ENSP00000346484	P20794		UPI000217CBBA	NM_001242957.1	deleterious(0)		8/15		PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF194,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	3	10802041	10802041	A	T	1	0	0	0	0	1	0	0	0	9116	449	16	4		4	MAK	6	10802041	Missense_Mutation	SNP	A	11LU022_TP		10802041	160003938	344	1016											
RBM24	0	.	GRCh38	chr6	17292041	17292041	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgggacagctgccgcCgccgctgcagcagctgctgc	5	5	14	17	3	0	0	0	0	0	0	0	1	0	1	4	1	7	7	4	1	0	0	rs552546103		11LU022_TP	11LU022_NB	C	C																c.633C>A	p.=	p.A211A	ENST00000379052	4/4	90	84	6	64	64	0	strelka-mutect	RBM24,synonymous_variant,p.=,ENST00000379052,NM_001143942.1;RBM24,synonymous_variant,p.=,ENST00000318204,NM_153020.2;RBM24,synonymous_variant,p.=,ENST00000425446,NM_001143941.1;RBM24,synonymous_variant,p.=,ENST00000503965,;RBM24,3_prime_UTR_variant,,ENST00000509686,;RBM24,non_coding_transcript_exon_variant,,ENST00000508508,;RBM24,non_coding_transcript_exon_variant,,ENST00000510826,;RBM24,non_coding_transcript_exon_variant,,ENST00000504055,;	A	ENST00000379052	Transcript	synonymous_variant	869/2703	633/711	211/236	A	gcC/gcA	rs552546103,COSM4625725,COSM4625726	1		1	RBM24	HGNC	HGNC:21539	protein_coding	YES	CCDS47378.1	ENSP00000368341	Q9BX46	A8KAI7	UPI000006E912	NM_001143942.1			4/4		Low_complexity_(Seg):seg											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs552546103	.												A	2	1	3	17292041	17292041	C	A	1	0	0	0	0	0	0	0	1	13290	639	23	1		1	RBM24	6	17292041	Silent	SNP	C	11LU022_TP	6490000	17292041	153513938	345	1017											
FAM8A1	0	.	GRCh38	chr6	17600540	17600540	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccccgcgacgacccccAggccgaaccccaggccccgg	7	1	11	22	5	0	0	0	0	0	0	0	3	0	0	9	3	2	0	9	3	1	0	novel		11LU022_TP	11LU022_NB	A	A																c.131A>G	p.Gln44Arg	p.Q44R	ENST00000259963	1/5	169	113	56	138	137	1	strelka-varscan-mutect	FAM8A1,missense_variant,p.Gln44Arg,ENST00000259963,NM_016255.2;	G	ENST00000259963	Transcript	missense_variant	186/4677	131/1242	44/413	Q/R	cAg/cGg		1		1	FAM8A1	HGNC	HGNC:16372	protein_coding	YES	CCDS4540.1	ENSP00000259963	Q9UBU6	A0A024R006	UPI0000062300	NM_016255.2	tolerated_low_confidence(0.51)		1/5		hmmpanther:PTHR13659,hmmpanther:PTHR13659:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	17600540	17600540	A	G	1	0	0	0	0	1	0	0	0	5506	188	7	5		5	FAM8A1	6	17600540	Missense_Mutation	SNP	A	11LU022_TP	308499	17600540	153205439	346	1018											
ZSCAN9	0	.	GRCh38	chr6	28227861	28227861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggacagcatttatttgatGttgaacgaatcccacctggt	11	12	10	8	1	0	2	0	2	0	0	1	4	1	3	2	2	2	2	2	2	3	4	novel		11LU022_TP	11LU022_NB	G	G																c.592G>T	p.Val198Phe	p.V198F	ENST00000527436	3/3	166	152	14	168	168	0	strelka-varscan-mutect	ZSCAN9,missense_variant,p.Val198Phe,ENST00000527436,;ZSCAN9,3_prime_UTR_variant,,ENST00000531981,;ZSCAN9,intron_variant,,ENST00000425468,NM_001199479.1;ZSCAN9,intron_variant,,ENST00000252207,NM_006299.4;ZSCAN9,intron_variant,,ENST00000531979,NM_001199480.1;ZSCAN9,intron_variant,,ENST00000527844,;ZSCAN9,intron_variant,,ENST00000526391,;ZSCAN9,downstream_gene_variant,,ENST00000531941,;	T	ENST00000527436	Transcript	missense_variant	693/2062	592/786	198/261	V/F	Gtt/Ttt		1		1	ZSCAN9	HGNC	HGNC:12984	protein_coding			ENSP00000433468		A0A0B4J224	UPI000035DB52		tolerated(0.06)		3/3																			MODERATE		SNV	1			1										PASS		rs1212777180	.												T	3	4	3	28227861	28227861	G	T	1	0	0	0	0	1	0	0	0	18840	1377	48	2		2	ZSCAN9	6	28227861	Missense_Mutation	SNP	G	11LU022_TP	10627321	28227861	142578118	347	1019											
NKAPL	0	.	GRCh38	chr6	28259551	28259551	+	Frame_Shift_Del	DEL	G	G	-																															ccttggagtgagttggacgtGggcgctctttacccctttag																								novel		11LU022_TP	11LU022_NB	G	G																c.182delG	p.Gly61AlafsTer62	p.G61Afs*62	ENST00000343684	1/1	125	113	12	116	116	0	sindel-varindel-pindel	NKAPL,frameshift_variant,p.Gly61AlafsTer62,ENST00000343684,NM_001007531.2;	-	ENST00000343684	Transcript	frameshift_variant	232/1639	180/1209	60/402	V/X	gtG/gt		1		1	NKAPL	HGNC	HGNC:21584	protein_coding	YES	CCDS34353.1	ENSP00000345716	Q5M9Q1		UPI0000072A86	NM_001007531.2			1/1		hmmpanther:PTHR13087,hmmpanther:PTHR13087:SF3																	HIGH	1	deletion		2		1										PASS		.	.												-	7	5	3	28259551	28259551	G	-	1	0	1	0	1	0	0	0	0	10475	1335	47	0		0	NKAPL	6	28259551	Frame_Shift_Del	DEL	G	11LU022_TP	31690	28259551	142546428	348	1020											
OR14J1	0	.	GRCh38	chr6	29307470	29307470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctttgagtttctcagactgCcttctgattcctcatcgact	6	16	7	12	1	3	3	2	2	2	1	6	4	4	3	2	0	1	2	2	0	0	4	novel		11LU022_TP	11LU022_NB	C	C																c.781C>A	p.Pro261Thr	p.P261T	ENST00000377160	1/1	206	186	20	186	186	0	strelka-varscan-mutect	OR14J1,missense_variant,p.Pro261Thr,ENST00000377160,NM_030946.1;	A	ENST00000377160	Transcript	missense_variant	781/966	781/966	261/321	P/T	Cct/Act		1		1	OR14J1	HGNC	HGNC:13971	protein_coding	YES	CCDS34362.1	ENSP00000366365	Q9UGF5	A0A126GW10	UPI0000041CEC	NM_030946.1	tolerated(1)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF42,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs948194645	.												A	3	1	3	29307470	29307470	C	A	1	0	0	0	0	1	0	0	0	11025	739	26	2		2	OR14J1	6	29307470	Missense_Mutation	SNP	C	11LU022_TP	1047919	29307470	141498509	349	1021											
OR10C1	0	.	GRCh38	chr6	29440811	29440811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgccctaaggccagctacGatccggccactgaccctctg	7	8	9	17	3	1	1	0	1	1	0	3	2	2	1	5	2	2	1	5	2	2	3	rs754635593		11LU022_TP	11LU022_NB	G	G																c.796G>T	p.Asp266Tyr	p.D266Y	ENST00000444197	1/1	341	311	30	253	253	0	strelka-varscan-mutect	OR10C1,missense_variant,p.Asp266Tyr,ENST00000444197,NM_013941.3;OR10C1,missense_variant,p.Asp268Tyr,ENST00000622521,;OR11A1,intron_variant,,ENST00000377149,;	T	ENST00000444197	Transcript	missense_variant	1506/1649	796/939	266/312	D/Y	Gat/Tat	rs754635593,COSM595728	1		1	OR10C1	HGNC	HGNC:8165	protein_coding	YES	CCDS34364.1	ENSP00000419119	Q96KK4	A0A126GV80	UPI000014068E	NM_013941.3	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF191,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs754635593	.												T	3	4	3	29440811	29440811	G	T	1	0	0	0	0	1	0	0	0	10973	1058	37	1		1	OR10C1	6	29440811	Missense_Mutation	SNP	G	11LU022_TP	133341	29440811	141365168	350	1022											
MAS1L	0	.	GRCh38	chr6	29487806	29487806	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcctcctggtcaccacTgtggagacaaaggctacatg	9	9	11	12	0	1	1	1	0	0	1	2	2	2	1	3	3	2	1	3	3	2	1	novel		11LU022_TP	11LU022_NB	T	T																c.97A>T	p.Ser33Cys	p.S33C	ENST00000377127	1/1	190	130	60	216	216	0	strelka-varscan-mutect	MAS1L,missense_variant,p.Ser33Cys,ENST00000377127,NM_052967.1;RPS17P1,downstream_gene_variant,,ENST00000396783,;	A	ENST00000377127	Transcript	missense_variant	151/1260	97/1137	33/378	S/C	Agt/Tgt		1		-1	MAS1L	HGNC	HGNC:13961	protein_coding	YES	CCDS4661.1	ENSP00000366331	P35410	W8W3J1	UPI000003B44C	NM_052967.1	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF12																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	3	29487806	29487806	T	A	1	0	0	0	0	1	0	0	0	9247	1580	55	4		4	MAS1L	6	29487806	Missense_Mutation	SNP	T	11LU022_TP	46995	29487806	141318173	351	1023											
PBX2	0	.	GRCh38	chr6	32187244	32187244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacagtgggatccacctGcagaggaagggggtgtcggg	8	6	20	7	1	0	2	0	1	0	1	2	4	1	4	2	6	1	1	2	6	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.1022C>T	p.Ala341Val	p.A341V	ENST00000375050	6/9	137	99	38	166	166	0	strelka-varscan-mutect	PBX2,missense_variant,p.Ala341Val,ENST00000375050,NM_002586.4;AGER,upstream_gene_variant,,ENST00000375069,NM_001206929.1;AGER,upstream_gene_variant,,ENST00000438221,NM_001206934.1;AGER,upstream_gene_variant,,ENST00000375076,NM_001206932.1,NM_001136.4;GPSM3,downstream_gene_variant,,ENST00000375040,NM_001276501.1;AGER,upstream_gene_variant,,ENST00000375070,;GPSM3,downstream_gene_variant,,ENST00000487761,;GPSM3,downstream_gene_variant,,ENST00000375043,NM_022107.1;AGER,upstream_gene_variant,,ENST00000375055,NM_001206936.1,NM_001206954.1,NM_001206966.1,NM_001206940.1;AGER,upstream_gene_variant,,ENST00000375067,NM_172197.2;GPSM3,downstream_gene_variant,,ENST00000619085,;AGER,upstream_gene_variant,,ENST00000620802,;AGER,upstream_gene_variant,,ENST00000450110,;AGER,upstream_gene_variant,,ENST00000375056,;AGER,upstream_gene_variant,,ENST00000375065,;AGER,upstream_gene_variant,,ENST00000538695,;XXbac-BPG300A18.13,upstream_gene_variant,,ENST00000559458,;PBX2,splice_region_variant,,ENST00000495300,;PBX2,non_coding_transcript_exon_variant,,ENST00000478678,;PBX2,non_coding_transcript_exon_variant,,ENST00000496171,;AGER,upstream_gene_variant,,ENST00000484849,;GPSM3,downstream_gene_variant,,ENST00000472768,;AGER,upstream_gene_variant,,ENST00000473619,;AGER,upstream_gene_variant,,ENST00000488669,;PBX2,downstream_gene_variant,,ENST00000480254,;	A	ENST00000375050	Transcript	missense_variant,splice_region_variant	1293/3205	1022/1293	341/430	A/V	gCa/gTa		1		-1	PBX2	HGNC	HGNC:8633	protein_coding	YES	CCDS4748.1	ENSP00000364190	P40425	A0A024RCR3	UPI00001313B2	NM_002586.4	tolerated(0.12)		6/9		Low_complexity_(Seg):seg,hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF50																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	32187244	32187244	G	A	1	0	0	0	0	1	0	0	0	11580	1333	46	3		3	PBX2	6	32187244	Missense_Mutation	SNP	G	11LU022_TP	2699438	32187244	138618735	352	1024											
COL11A2	0	.	GRCh38	chr6	33170822	33170822	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacacacctgtaggccaatGggtcctgggggcccattgaa	10	7	12	12	0	0	1	0	1	0	0	1	1	1	1	4	4	1	1	4	4	4	2	novel		11LU022_TP	11LU022_NB	G	G																c.3204C>G	p.=	p.P1068P	ENST00000374708	44/64	371	245	126	486	486	0	strelka-varscan-mutect	COL11A2,synonymous_variant,p.=,ENST00000341947,NM_080680.2;COL11A2,synonymous_variant,p.=,ENST00000374708,NM_080681.2;COL11A2,synonymous_variant,p.=,ENST00000361917,NM_080679.2;COL11A2,intron_variant,,ENST00000477772,;	C	ENST00000374708	Transcript	synonymous_variant	3463/6209	3204/4953	1068/1650	P	ccC/ccG		1		-1	COL11A2	HGNC	HGNC:2187	protein_coding	YES	CCDS43452.1	ENSP00000363840		Q4VXY6	UPI000013E9A5	NM_080681.2			44/64		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	3	33170822	33170822	G	C	1	0	0	0	0	0	0	0	1	3456	1335	47	4		4	COL11A2	6	33170822	Silent	SNP	G	11LU022_TP	983578	33170822	137635157	353	1025											
ITPR3	0	.	GRCh38	chr6	33680652	33680652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgccttcttcagctcccCattctctgagaacagcactt	9	11	5	16	1	3	1	1	1	2	1	5	2	4	1	3	0	4	2	3	0	2	4	novel		11LU022_TP	11LU022_NB	C	C																c.4448C>T	p.Pro1483Leu	p.P1483L	ENST00000374316	34/59	135	93	42	154	154	0	strelka-varscan-mutect	ITPR3,missense_variant,p.Pro1483Leu,ENST00000374316,;ITPR3,missense_variant,p.Pro1483Leu,ENST00000605930,NM_002224.3;	T	ENST00000374316	Transcript	missense_variant	5508/9870	4448/8016	1483/2671	P/L	cCa/cTa		1		1	ITPR3	HGNC	HGNC:6182	protein_coding	YES	CCDS4783.1	ENSP00000363435	Q14573		UPI000013CB74		deleterious(0)		34/59		hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	33680652	33680652	C	T	1	0	0	0	0	1	0	0	0	7828	594	21	3		3	ITPR3	6	33680652	Missense_Mutation	SNP	C	11LU022_TP	509830	33680652	137125327	354	1026											
C6orf106	0	.	GRCh38	chr6	34606585	34606585	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactactgataagttgttTgcgtgactgctgggagacag	9	12	13	7	1	1	3	1	2	0	1	1	4	1	3	0	1	3	3	0	1	2	4	novel		11LU022_TP	11LU022_NB	T	T																c.831A>C	p.=	p.A277A	ENST00000374023	4/5	142	123	19	139	139	0	strelka-varscan-mutect	C6orf106,synonymous_variant,p.=,ENST00000374023,NM_024294.3;C6orf106,synonymous_variant,p.=,ENST00000374026,NM_022758.5;C6orf106,synonymous_variant,p.=,ENST00000374021,;	G	ENST00000374023	Transcript	synonymous_variant	1075/4418	831/897	277/298	A	gcA/gcC		1		-1	C6orf106	HGNC	HGNC:21215	protein_coding	YES	CCDS4796.1	ENSP00000363135	Q9H6K1	A0A024RCW2	UPI000006F934	NM_024294.3			4/5		hmmpanther:PTHR20930																	LOW	1	SNV	1			1										PASS		rs1188129162	.												G	2	3	3	34606585	34606585	T	G	1	0	0	0	0	0	0	0	1	2114	1799	63	5		5	C6orf106	6	34606585	Silent	SNP	T	11LU022_TP	925933	34606585	136199394	355	1027											
GUCA1A	0	.	GRCh38	chr6	42178427	42178427	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagctgctcaccatcatcCaggtgcagagggcccggcca	9	6	12	14	1	2	2	2	1	0	1	3	2	3	2	4	3	3	3	4	3	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.349C>T	p.Gln117Ter	p.Q117*	ENST00000394237	4/6	238	185	53	299	299	0	strelka-varscan-mutect	GUCA1A,stop_gained,p.Gln117Ter,ENST00000394237,NM_001319061.1;GUCA1A,stop_gained,p.Gln113Ter,ENST00000541991,;GUCA1A,stop_gained,p.Gln117Ter,ENST00000053469,NM_000409.3;GUCA1A,stop_gained,p.Gln117Ter,ENST00000372958,;GUCA1A,downstream_gene_variant,,ENST00000418175,;	T	ENST00000394237	Transcript	stop_gained,splice_region_variant	1325/2233	349/606	117/201	Q/*	Cag/Tag		1		1	GUCA1A	HGNC	HGNC:4678	protein_coding	YES	CCDS4864.1	ENSP00000377784	P43080		UPI0000001C22	NM_001319061.1			4/6		PROSITE_profiles:PS50222,hmmpanther:PTHR23055:SF13,hmmpanther:PTHR23055,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473,Prints_domain:PR00450																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	3	42178427	42178427	C	T	1	0	0	0	0	0	1	0	0	6769	608	21	3		3	GUCA1A	6	42178427	Nonsense_Mutation	SNP	C	11LU022_TP	7571842	42178427	128627552	356	1028											
TMEM151B	0	.	GRCh38	chr6	44275796	44275796	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccgagtaccgcacggccTacgcgcactaccacgtggag	8	5	13	15	6	0	0	0	0	0	0	0	2	0	1	4	3	3	3	4	3	3	3	novel		11LU022_TP	11LU022_NB	T	T																c.970T>A	p.Tyr324Asn	p.Y324N	ENST00000451188	3/3	84	64	20	133	133	0	strelka-varscan-mutect	TMEM151B,missense_variant,p.Tyr324Asn,ENST00000451188,NM_001137560.1;TMEM151B,intron_variant,,ENST00000438774,;TCTE1,downstream_gene_variant,,ENST00000371505,NM_182539.3;TCTE1,downstream_gene_variant,,ENST00000371504,;RP11-444E17.6,intron_variant,,ENST00000505802,;	A	ENST00000451188	Transcript	missense_variant	1247/4895	970/1701	324/566	Y/N	Tac/Aac		1		1	TMEM151B	HGNC	HGNC:21315	protein_coding	YES	CCDS47437.1	ENSP00000393161	Q8IW70		UPI00006C0A4E	NM_001137560.1	tolerated(0.08)		3/3		Pfam_domain:PF14857,hmmpanther:PTHR31893,hmmpanther:PTHR31893:SF4																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	3	44275796	44275796	T	A	1	0	0	0	0	1	0	0	0	16513	1522	53	4		4	TMEM151B	6	44275796	Missense_Mutation	SNP	T	11LU022_TP	2097369	44275796	126530183	357	1029											
AL161905.1	0	.	GRCh38	chr6	44953368	44953368	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcatggctgaaggggtccCctgccttggttaccatgtct	5	12	13	11	0	1	1	0	1	1	0	2	1	2	1	4	5	2	3	4	5	2	2	novel		11LU022_TP	11LU022_NB	C	C																c.776G>C	p.Gly259Ala	p.G259A	ENST00000371460	11/13	179	147	32	229	229	0	strelka-varscan-mutect	SUPT3H,missense_variant,p.Gly215Ala,ENST00000306867,;SUPT3H,missense_variant,p.Gly259Ala,ENST00000371460,NM_181356.2;SUPT3H,missense_variant,p.Gly248Ala,ENST00000371459,NM_003599.3;SUPT3H,missense_variant,p.Gly186Ala,ENST00000637480,;SUPT3H,missense_variant,p.Gly31Ala,ENST00000371458,;AL161905.1,missense_variant,p.Gly96Ala,ENST00000637763,NM_001261823.1;SUPT3H,missense_variant,p.Gly248Ala,ENST00000475057,;	G	ENST00000371460	Transcript	missense_variant	1094/2389	776/987	259/328	G/A	gGg/gCg		1		-1	SUPT3H	HGNC	HGNC:11466	protein_coding	YES	CCDS34466.1	ENSP00000360515	O75486		UPI000018CE7C	NM_181356.2	deleterious(0.05)		11/13		hmmpanther:PTHR11380:SF3,hmmpanther:PTHR11380																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	44953368	44953368	C	G	1	0	0	0	0	1	0	0	0	574	623	22	4		4	AL161905.1	6	44953368	Missense_Mutation	SNP	C	11LU022_TP	677572	44953368	125852611	358	1030											
PTCHD4	0	.	GRCh38	chr6	47879722	47879722	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagaagtagttcaacagaatAgagacacacatgttttgaca	17	10	8	6	0	1	4	1	1	0	3	1	5	1	4	0	0	1	3	0	0	6	6	novel		11LU022_TP	11LU022_NB	A	A																c.1122T>A	p.=	p.S374S	ENST00000339488	3/3	184	164	20	185	185	0	strelka-varscan-mutect	PTCHD4,synonymous_variant,p.=,ENST00000339488,NM_001013732.3;	T	ENST00000339488	Transcript	synonymous_variant	1156/2850	1122/2541	374/846	S	tcT/tcA		1		-1	PTCHD4	HGNC	HGNC:21345	protein_coding	YES	CCDS34473.2	ENSP00000341914	Q6ZW05		UPI000179A8D3	NM_001013732.3			3/3		Gene3D:2j8sB01,Pfam_domain:PF02460,PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Superfamily_domains:SSF82866,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	3	47879722	47879722	A	T	1	0	0	0	0	0	0	0	1	12887	407	15	4		4	PTCHD4	6	47879722	Silent	SNP	A	11LU022_TP	2926354	47879722	122926257	359	1031											
MUT	0	.	GRCh38	chr6	49451672	49451672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtccctccaaatactgctgCcattgcttctattgcagtac	9	13	6	13	0	1	0	0	0	1	0	3	0	3	0	3	0	6	4	3	0	4	6	novel		11LU022_TP	11LU022_NB	C	C																c.1126G>T	p.Ala376Ser	p.A376S	ENST00000274813	6/13	248	218	30	260	260	0	strelka-varscan-mutect	MUT,missense_variant,p.Ala376Ser,ENST00000274813,NM_000255.3;	A	ENST00000274813	Transcript	missense_variant	1254/3749	1126/2253	376/750	A/S	Gca/Tca		1		-1	MUT	HGNC	HGNC:7526	protein_coding	YES	CCDS4924.1	ENSP00000274813	P22033	A0A024RD82	UPI000013DA28	NM_000255.3	tolerated_low_confidence(0.09)		6/13		hmmpanther:PTHR23408,hmmpanther:PTHR23408:SF1,Gene3D:3.20.20.240,TIGRFAM_domain:TIGR00641,Pfam_domain:PF01642,Superfamily_domains:SSF51703																	MODERATE	1	SNV	1			1										PASS		rs1369851738	.												A	3	1	3	49451672	49451672	C	A	1	0	0	0	0	1	0	0	0	9989	739	26	2		2	MUT	6	49451672	Missense_Mutation	SNP	C	11LU022_TP	1571950	49451672	121354307	360	1032											
RHAG	0	.	GRCh38	chr6	49614804	49614804	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtttgtctccaggttcAgcaatggccgagttaaagct	9	12	10	10	1	2	0	1	0	1	0	3	1	2	0	2	2	2	5	2	2	3	3	novel		11LU022_TP	11LU022_NB	A	A																c.690T>A	p.=	p.A230A	ENST00000371175	5/10	387	305	82	442	442	0	strelka-varscan-mutect	RHAG,synonymous_variant,p.=,ENST00000371175,NM_000324.2;RHAG,synonymous_variant,p.=,ENST00000229810,;RHAG,synonymous_variant,p.=,ENST00000618248,;	T	ENST00000371175	Transcript	synonymous_variant	717/1912	690/1230	230/409	A	gcT/gcA		1		-1	RHAG	HGNC	HGNC:10006	protein_coding	YES	CCDS4927.1	ENSP00000360217	Q02094		UPI000006D18F	NM_000324.2			5/10		hmmpanther:PTHR11730:SF32,hmmpanther:PTHR11730,Pfam_domain:PF00909,Gene3D:1.10.3430.10,Superfamily_domains:0044218																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	49614804	49614804	A	T	1	0	0	0	0	0	0	0	1	13487	175	7	4		4	RHAG	6	49614804	Silent	SNP	A	11LU022_TP	163132	49614804	121191175	361	1033											
PGK2	0	.	GRCh38	chr6	49786992	49786992	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggaacaccatcaggccGacctagatgactcataagaa	15	6	9	11	1	2	3	2	1	0	2	2	5	2	4	3	2	1	0	3	2	4	2	rs570804051		11LU022_TP	11LU022_NB	G	G																c.196C>A	p.=	p.R66R	ENST00000304801	1/1	148	128	20	130	130	0	strelka-varscan-mutect	PGK2,synonymous_variant,p.=,ENST00000304801,NM_138733.4;	T	ENST00000304801	Transcript	synonymous_variant	316/1657	196/1254	66/417	R	Cgg/Agg	rs570804051	1		-1	PGK2	HGNC	HGNC:8898	protein_coding	YES	CCDS4930.1	ENSP00000305995	P07205	A0A140VJR3	UPI0000001C72	NM_138733.4			1/1		Gene3D:3.40.50.1260,HAMAP:MF_00145,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF10,Superfamily_domains:SSF53748																	LOW	1	SNV				1										PASS		rs570804051	.												T	2	4	3	49786992	49786992	G	T	1	0	0	0	0	0	0	0	1	11880	1057	37	1		1	PGK2	6	49786992	Silent	SNP	G	11LU022_TP	172188	49786992	121018987	362	1034											
DEFB113	0	.	GRCh38	chr6	49968799	49968799	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgttgcattccggctTgcaagcaccacgaacaagct	10	8	9	14	2	0	0	0	0	0	0	1	1	1	0	3	1	6	7	3	1	3	3	novel		11LU022_TP	11LU022_NB	T	T																c.127A>T	p.Lys43Ter	p.K43*	ENST00000398718	2/2	196	180	16	164	164	0	strelka-varscan-mutect	DEFB113,stop_gained,p.Lys43Ter,ENST00000398718,NM_001037729.1;DEFB114,upstream_gene_variant,,ENST00000322066,NM_001037499.1;	A	ENST00000398718	Transcript	stop_gained	127/249	127/249	43/82	K/*	Aag/Tag		1		-1	DEFB113	HGNC	HGNC:18094	protein_coding	YES	CCDS43472.1	ENSP00000381703	Q30KQ7		UPI00005E4A72	NM_001037729.1			2/2		hmmpanther:PTHR39411:SF1,hmmpanther:PTHR39411,Pfam_domain:PF13841																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	3	49968799	49968799	T	A	1	0	0	0	0	0	1	0	0	4205	1821	63	4		4	DEFB113	6	49968799	Nonsense_Mutation	SNP	T	11LU022_TP	181807	49968799	120837180	363	1035											
TFAP2B	0	.	GRCh38	chr6	50823449	50823449	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagctcgcggctctccCagctgggctcggtgtcccaa	5	7	12	17	3	1	0	0	0	1	0	5	0	2	0	3	3	2	4	3	3	1	0	novel		11LU022_TP	11LU022_NB	C	C																c.124C>A	p.Gln42Lys	p.Q42K	ENST00000393655	2/7	262	235	27	279	279	0	strelka-varscan-mutect	TFAP2B,missense_variant,p.Gln42Lys,ENST00000393655,NM_003221.3;TFAP2B,missense_variant,p.Gln40Lys,ENST00000344788,;TFAP2B,non_coding_transcript_exon_variant,,ENST00000489228,;	A	ENST00000393655	Transcript	missense_variant	293/5773	124/1383	42/460	Q/K	Cag/Aag		1		1	TFAP2B	HGNC	HGNC:11743	protein_coding	YES	CCDS4934.2	ENSP00000377265	Q92481		UPI000020DE90	NM_003221.3	tolerated(0.07)		2/7		Prints_domain:PR01750,hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	50823449	50823449	C	A	1	0	0	0	0	1	0	0	0	16221	595	21	2		2	TFAP2B	6	50823449	Missense_Mutation	SNP	C	11LU022_TP	854650	50823449	119982530	364	1036											
PKHD1	0	.	GRCh38	chr6	52050221	52050221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggtgacactgtagaccgGaggggatcccaccacagaga	12	4	15	10	1	0	3	0	1	0	2	1	7	1	6	3	5	0	1	3	5	1	1	novel		11LU022_TP	11LU022_NB	G	G																c.2215C>A	p.Pro739Thr	p.P739T	ENST00000371117	22/67	456	405	51	538	538	0	strelka-varscan-mutect	PKHD1,missense_variant,p.Pro739Thr,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Pro739Thr,ENST00000340994,NM_170724.2;	T	ENST00000371117	Transcript	missense_variant	2491/16282	2215/12225	739/4074	P/T	Ccg/Acg		1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3	deleterious(0.01)		22/67		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	52050221	52050221	G	T	1	0	0	0	0	1	0	0	0	12067	1174	41	2		2	PKHD1	6	52050221	Missense_Mutation	SNP	G	11LU022_TP	1226772	52050221	118755758	365	1037											
IL17A	0	.	GRCh38	chr6	52189068	52189068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgcagccgcaatgaggacCctgagagatatccctctgtg	9	9	11	12	1	2	3	0	2	2	1	3	5	3	4	3	1	2	2	3	1	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.244C>A	p.Pro82Thr	p.P82T	ENST00000340057	3/3	189	136	53	168	168	0	strelka-varscan-mutect	IL17A,missense_variant,p.Pro82Thr,ENST00000340057,NM_002190.2;	A	ENST00000340057	Transcript	missense_variant	289/1859	244/468	82/155	P/T	Cct/Act		1		1	IL17A	HGNC	HGNC:5981	protein_coding	YES	CCDS4937.1	ENSP00000344192	Q16552		UPI0000047D95	NM_002190.2	deleterious(0.02)		3/3		hmmpanther:PTHR21295:SF2,hmmpanther:PTHR21295,Pfam_domain:PF06083,Gene3D:2.10.90.10,Superfamily_domains:SSF57501,Prints_domain:PR01932																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	52189068	52189068	C	A	1	0	0	0	0	1	0	0	0	7542	623	22	2		2	IL17A	6	52189068	Missense_Mutation	SNP	C	11LU022_TP	138847	52189068	118616911	366	1038											
GCM1	0	.	GRCh38	chr6	53130918	53130918	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctggttttggatgatcaTgctctccctttgacttaaat	7	19	7	8	0	3	2	1	2	2	0	4	3	3	3	1	2	1	2	1	2	2	5	novel		11LU022_TP	11LU022_NB	T	T																c.455A>G	p.His152Arg	p.H152R	ENST00000259803	5/6	123	113	10	159	159	0	strelka-mutect	GCM1,missense_variant,p.His152Arg,ENST00000259803,NM_003643.3;RP11-506E9.3,upstream_gene_variant,,ENST00000566420,;	C	ENST00000259803	Transcript	missense_variant	667/2765	455/1311	152/436	H/R	cAt/cGt		1		-1	GCM1	HGNC	HGNC:4197	protein_coding	YES	CCDS4950.1	ENSP00000259803	Q9NP62		UPI0000073F99	NM_003643.3	deleterious(0)		5/6		Superfamily_domains:0041800,PD014393,Pfam_domain:PF03615,PROSITE_profiles:PS50807,hmmpanther:PTHR12414,hmmpanther:PTHR12414:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	53130918	53130918	T	C	1	0	0	0	0	1	0	0	0	6167	1464	51	5		5	GCM1	6	53130918	Missense_Mutation	SNP	T	11LU022_TP	941850	53130918	117675061	367	1039											
HCRTR2	0	.	GRCh38	chr6	55263727	55263727	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaaatttatcccaagatgTaccacatctgtttctttctg	10	16	6	9	0	3	2	0	1	3	1	4	2	4	2	2	0	1	2	2	0	4	5			11LU022_TP	11LU022_NB	T	T																c.667T>A	p.Tyr223Asn	p.Y223N	ENST00000615358	5/8	132	115	17	180	180	0	strelka-varscan-mutect	HCRTR2,missense_variant,p.Tyr223Asn,ENST00000615358,;HCRTR2,missense_variant,p.Tyr223Asn,ENST00000370862,NM_001526.3;	A	ENST00000615358	Transcript	missense_variant	1130/1936	667/1335	223/444	Y/N	Tac/Aac	COSM1080418	1		1	HCRTR2	HGNC	HGNC:4849	protein_coding	YES	CCDS4956.1	ENSP00000477548	O43614	S4X0W3	UPI000013D07A		deleterious(0)		5/8		PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF75,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01064,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	3	55263727	55263727	T	A	1	0	0	0	0	1	0	0	0	6889	1638	57	4		4	HCRTR2	6	55263727	Missense_Mutation	SNP	T	11LU022_TP	2132809	55263727	115542252	368	1040											
KIAA1586	0	.	GRCh38	chr6	57054306	57054306	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaatttaatgctcttcctAggagtatattactagacaat	15	15	5	6	0	1	1	0	0	1	1	2	2	2	2	1	1	2	2	1	1	9	9	novel		11LU022_TP	11LU022_NB	A	A																c.1807A>T	p.Arg603Trp	p.R603W	ENST00000370733	4/4	29	23	6	42	42	0	strelka-varscan-mutect	KIAA1586,missense_variant,p.Arg603Trp,ENST00000370733,NM_001286276.1,NM_020931.3,NM_001286275.1;KIAA1586,missense_variant,p.Arg576Trp,ENST00000545356,NM_001286274.1;KIAA1586,downstream_gene_variant,,ENST00000488682,;	T	ENST00000370733	Transcript	missense_variant	2014/2933	1807/2364	603/787	R/W	Agg/Tgg		1		1	KIAA1586	HGNC	HGNC:21360	protein_coding	YES	CCDS34480.1	ENSP00000359768	Q9HCI6		UPI0000074573	NM_001286276.1,NM_020931.3,NM_001286275.1	tolerated(0.06)		4/4		hmmpanther:PTHR23232,Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	57054306	57054306	A	T	1	0	0	0	0	1	0	0	0	8123	411	15	4		4	KIAA1586	6	57054306	Missense_Mutation	SNP	A	11LU022_TP	1790579	57054306	113751673	369	1041											
ADGRB3	0	.	GRCh38	chr6	68936617	68936617	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacttgtgtatcaccttacGggacacactgcagcggccca	10	8	10	13	2	1	0	1	0	0	0	1	2	1	1	2	2	4	2	2	2	3	3	rs754128610		11LU022_TP	11LU022_NB	G	G																c.967G>C	p.Gly323Arg	p.G323R	ENST00000370598	5/32	176	116	60	155	155	0	strelka-varscan-mutect	ADGRB3,missense_variant,p.Gly323Arg,ENST00000370598,NM_001704.2;ADGRB3,missense_variant,p.Gly323Arg,ENST00000546190,;	C	ENST00000370598	Transcript	missense_variant	1788/6010	967/4569	323/1522	G/R	Ggg/Cgg	rs754128610,COSM5046629	1		1	ADGRB3	HGNC	HGNC:945	protein_coding	YES	CCDS4968.1	ENSP00000359630	O60242		UPI00001AE6A9	NM_001704.2	deleterious(0.02)		5/32		PROSITE_profiles:PS50092,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF40,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs754128610	.												C	3	2	3	68936617	68936617	G	C	1	0	0	0	0	1	0	0	0	357	1116	39	4		4	ADGRB3	6	68936617	Missense_Mutation	SNP	G	11LU022_TP	11882311	68936617	101869362	370	1042											
ADGRB3	0	.	GRCh38	chr6	69018456	69018456	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atacacattgttggaatgggGatgatggactttcagaattc	12	13	11	5	0	1	2	1	1	0	1	2	5	1	5	0	4	1	1	0	4	3	5			11LU022_TP	11LU022_NB	G	G																c.2064G>T	p.=	p.G688G	ENST00000370598	13/32	60	45	15	120	120	0	strelka-varscan-mutect	ADGRB3,synonymous_variant,p.=,ENST00000370598,NM_001704.2;ADGRB3,synonymous_variant,p.=,ENST00000546190,;	T	ENST00000370598	Transcript	synonymous_variant	2885/6010	2064/4569	688/1522	G	ggG/ggT	COSM4851449	1		1	ADGRB3	HGNC	HGNC:945	protein_coding	YES	CCDS4968.1	ENSP00000359630	O60242		UPI00001AE6A9	NM_001704.2			13/32		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF40,Pfam_domain:PF16489											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	3	69018456	69018456	G	T	1	0	0	0	0	0	0	0	1	357	1161	41	2		2	ADGRB3	6	69018456	Silent	SNP	G	11LU022_TP	81839	69018456	101787523	371	1043											
ADGRB3	0	.	GRCh38	chr6	69339009	69339009	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagccaccaccgccagtaaCgccatgttagtcccaatcat	11	8	6	16	2	2	0	2	0	0	0	3	0	3	0	6	0	2	2	6	0	3	2	rs138734026		11LU022_TP	11LU022_NB	C	C																c.3282C>T	p.=	p.N1094N	ENST00000370598	25/32	196	179	17	210	209	1	strelka-varscan-mutect	ADGRB3,synonymous_variant,p.=,ENST00000370598,NM_001704.2;ADGRB3,synonymous_variant,p.=,ENST00000546190,;ADGRB3,synonymous_variant,p.=,ENST00000238918,;	T	ENST00000370598	Transcript	synonymous_variant	4103/6010	3282/4569	1094/1522	N	aaC/aaT	rs138734026,COSM3928577	1		1	ADGRB3	HGNC	HGNC:945	protein_coding	YES	CCDS4968.1	ENSP00000359630	O60242		UPI00001AE6A9	NM_001704.2			25/32		Low_complexity_(Seg):seg,PROSITE_profiles:PS50261,Pfam_domain:PF00002											0,1						LOW	1	SNV	1		0,1	1										PASS		rs138734026	.												T	2	4	3	69339009	69339009	C	T	1	0	0	0	0	0	0	0	1	357	550	19	1		1	ADGRB3	6	69339009	Silent	SNP	C	11LU022_TP	320553	69339009	101466970	372	1044											
COL19A1	0	.	GRCh38	chr6	70207238	70207238	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagattgcctctatccTgtgtctcatgcccatcagcg	8	11	8	14	1	3	2	2	0	2	2	5	2	4	2	4	0	3	0	4	0	2	2	novel		11LU022_TP	11LU022_NB	T	T																c.3393T>A	p.=	p.P1131P	ENST00000620364	51/51	138	97	41	114	114	0	strelka-varscan-mutect	COL19A1,synonymous_variant,p.=,ENST00000620364,NM_001858.5;	A	ENST00000620364	Transcript	synonymous_variant	3495/6233	3393/3429	1131/1142	P	ccT/ccA		1		1	COL19A1	HGNC	HGNC:2196	protein_coding	YES	CCDS4970.1	ENSP00000480474	Q14993		UPI000004F1E3	NM_001858.5			51/51																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	70207238	70207238	T	A	1	0	0	0	0	0	0	0	1	3464	1567	55	4		4	COL19A1	6	70207238	Silent	SNP	T	11LU022_TP	868229	70207238	100598741	373	1045											
KCNQ5	0	.	GRCh38	chr6	73194499	73194499	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcctactagacatctatcaAcaggtccttcggaaaggctc	11	10	8	12	1	2	1	1	0	1	1	5	2	3	2	2	3	3	1	2	3	5	4	novel		11LU022_TP	11LU022_NB	A	A																c.1941A>G	p.=	p.Q647Q	ENST00000342056	15/15	107	94	13	97	97	0	strelka-varscan-mutect	KCNQ5,synonymous_variant,p.=,ENST00000342056,NM_001160132.1,NM_001160133.1;KCNQ5,synonymous_variant,p.=,ENST00000355635,;KCNQ5,synonymous_variant,p.=,ENST00000402622,;KCNQ5,synonymous_variant,p.=,ENST00000355194,;KCNQ5,synonymous_variant,p.=,ENST00000403813,;KCNQ5,synonymous_variant,p.=,ENST00000370398,NM_019842.3;KCNQ5,synonymous_variant,p.=,ENST00000414165,;KCNQ5,synonymous_variant,p.=,ENST00000628967,NM_001160134.1;KCNQ5,synonymous_variant,p.=,ENST00000629977,NM_001160130.1;	G	ENST00000342056	Transcript	synonymous_variant	2339/6688	1941/2856	647/951	Q	caA/caG		1		1	KCNQ5	HGNC	HGNC:6299	protein_coding	YES	CCDS55034.1	ENSP00000345055	Q9NR82		UPI000155D644	NM_001160132.1,NM_001160133.1			15/15		Pfam_domain:PF03520																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	3	73194499	73194499	A	G	1	0	0	0	0	0	0	0	1	8002	40	2	5		5	KCNQ5	6	73194499	Silent	SNP	A	11LU022_TP	2987261	73194499	97611480	374	1046											
TTK	0	.	GRCh38	chr6	80011517	80011517	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaacagttgtgattccagaGgacagactactaaagccagg	15	7	10	9	0	0	3	0	1	0	2	1	4	1	4	2	2	3	1	2	2	4	4	novel		11LU022_TP	11LU022_NB	G	G																c.697G>T	p.Gly233Ter	p.G233*	ENST00000369798	6/22	116	89	27	95	95	0	strelka-varscan-mutect	TTK,stop_gained,p.Gly233Ter,ENST00000509894,;TTK,stop_gained,p.Gly233Ter,ENST00000230510,NM_001166691.1;TTK,stop_gained,p.Gly233Ter,ENST00000369798,NM_003318.4;TTK,downstream_gene_variant,,ENST00000504040,;TTK,downstream_gene_variant,,ENST00000511260,;TTK,downstream_gene_variant,,ENST00000502580,;TTK,downstream_gene_variant,,ENST00000627129,;TTK,upstream_gene_variant,,ENST00000515751,;TTK,non_coding_transcript_exon_variant,,ENST00000430061,;TTK,downstream_gene_variant,,ENST00000509313,;	T	ENST00000369798	Transcript	stop_gained	808/3010	697/2574	233/857	G/*	Gga/Tga		1		1	TTK	HGNC	HGNC:12401	protein_coding	YES	CCDS4993.1	ENSP00000358813	P33981		UPI0000073C7B	NM_003318.4			6/22		hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF21																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	3	80011517	80011517	G	T	1	0	0	0	0	0	1	0	0	17232	1001	35	2		2	TTK	6	80011517	Nonsense_Mutation	SNP	G	11LU022_TP	6817018	80011517	90794462	375	1047											
SNAP91	0	.	GRCh38	chr6	83641164	83641164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtttgtaaatttctagagCatctttacattgtcctttct	8	20	5	8	1	3	1	0	0	3	1	5	1	4	1	1	0	2	3	1	0	4	8	novel		11LU022_TP	11LU022_NB	C	C																c.697G>T	p.Ala233Ser	p.A233S	ENST00000439399	8/30	55	38	17	79	79	0	strelka-varscan-mutect	SNAP91,missense_variant,p.Ala233Ser,ENST00000521485,;SNAP91,missense_variant,p.Ala233Ser,ENST00000439399,NM_014841.2;SNAP91,missense_variant,p.Ala233Ser,ENST00000369694,NM_001242792.1;SNAP91,missense_variant,p.Ala233Ser,ENST00000195649,NM_001256718.1;SNAP91,missense_variant,p.Ala233Ser,ENST00000521743,;SNAP91,missense_variant,p.Ala233Ser,ENST00000520302,NM_001256717.1,NM_001242793.1;SNAP91,missense_variant,p.Ala233Ser,ENST00000520213,NM_001242794.1;SNAP91,missense_variant,p.Ala233Ser,ENST00000521931,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;	A	ENST00000439399	Transcript	missense_variant	1014/4452	697/2724	233/907	A/S	Gct/Tct		1		-1	SNAP91	HGNC	HGNC:14986	protein_coding	YES	CCDS47455.1	ENSP00000400459	O60641		UPI0000124FB3	NM_014841.2	deleterious(0.05)		8/30		hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4,Gene3D:1hf8A02,Pfam_domain:PF07651,Superfamily_domains:SSF89009																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	83641164	83641164	C	A	1	0	0	0	0	1	0	0	0	15154	710	25	2		2	SNAP91	6	83641164	Missense_Mutation	SNP	C	11LU022_TP	3629647	83641164	87164815	376	1048											
CEP162	0	.	GRCh38	chr6	84155511	84155511	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccttccatttccttaacCtattaaaacatattttccac	12	16	0	13	0	0	0	0	0	0	0	4	0	4	0	5	0	2	0	5	0	5	8	novel		11LU022_TP	11LU022_NB	C	C																c.2782-1G>T		p.X928_splice	ENST00000403245		107	71	36	110	110	0	strelka-varscan-mutect	CEP162,splice_acceptor_variant,,ENST00000403245,NM_014895.3;CEP162,splice_acceptor_variant,,ENST00000617909,;CEP162,splice_acceptor_variant,,ENST00000257766,NM_001286206.1;CEP162,splice_acceptor_variant,,ENST00000461137,;CEP162,non_coding_transcript_exon_variant,,ENST00000487999,;	A	ENST00000403245	Transcript	splice_acceptor_variant	-/5156	2782/4212	928/1403				1		-1	CEP162	HGNC	HGNC:21107	protein_coding	YES	CCDS34494.2	ENSP00000385215	Q5TB80		UPI0001533DAA	NM_014895.3				21/26																		HIGH	1	SNV	5			1										PASS		rs1190048850	.												A	5	1	3	84155511	84155511	C	A	1	0	0	0	0	0	0	1	0	2962	695	24	2		2	CEP162	6	84155511	Splice_Site	SNP	C	11LU022_TP	514347	84155511	86650468	377	1049											
HTR1E	0	.	GRCh38	chr6	87015403	87015403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaccatcactgagaagatGctcatttgcatgactctggt	12	11	9	9	0	3	4	2	2	1	3	3	5	3	4	1	1	2	2	1	1	2	1	novel		11LU022_TP	11LU022_NB	G	G																c.69G>T	p.Met23Ile	p.M23I	ENST00000305344	2/2	68	44	24	34	34	0	strelka-varscan-mutect	HTR1E,missense_variant,p.Met23Ile,ENST00000305344,NM_000865.2;	T	ENST00000305344	Transcript	missense_variant	772/2052	69/1098	23/365	M/I	atG/atT		1		1	HTR1E	HGNC	HGNC:5291	protein_coding	YES	CCDS5006.1	ENSP00000307766	P28566		UPI000000126D	NM_000865.2	tolerated(1)		2/2		hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF33,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	87015403	87015403	G	T	1	0	0	0	0	1	0	0	0	7335	1319	46	2		2	HTR1E	6	87015403	Missense_Mutation	SNP	G	11LU022_TP	2859892	87015403	83790576	378	1050											
MDN1	0	.	GRCh38	chr6	89718412	89718412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgagtcgctgcataagCaataacactgcttctagttt	10	15	8	8	1	1	1	0	1	1	0	2	1	1	1	0	0	4	6	0	0	4	7	novel		11LU022_TP	11LU022_NB	C	C																c.6537G>T	p.Leu2179Phe	p.L2179F	ENST00000369393	43/102	108	94	14	133	133	0	strelka-varscan-mutect	MDN1,missense_variant,p.Leu2179Phe,ENST00000369393,NM_014611.2;MDN1,missense_variant,p.Leu2179Phe,ENST00000629399,;	A	ENST00000369393	Transcript	missense_variant	6653/18413	6537/16791	2179/5596	L/F	ttG/ttT		1		-1	MDN1	HGNC	HGNC:18302	protein_coding	YES	CCDS5024.1	ENSP00000358400	Q9NU22		UPI000013C4B8	NM_014611.2	tolerated(0.11)		43/102		hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF64,SMART_domains:SM00382																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	89718412	89718412	C	A	1	0	0	0	0	1	0	0	0	9353	709	25	2		2	MDN1	6	89718412	Missense_Mutation	SNP	C	11LU022_TP	2703009	89718412	81087567	379	1051											
UFL1	0	.	GRCh38	chr6	96549579	96549579	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggatgaagttttttgcagGtatacttaatctttgttaat	11	18	9	3	0	1	1	0	1	1	0	1	2	1	2	0	2	2	4	0	2	5	8	novel		11LU022_TP	11LU022_NB	G	G																c.1687+1G>C		p.X563_splice	ENST00000369278		94	78	16	96	96	0	strelka-varscan-mutect	UFL1,splice_donor_variant,,ENST00000369278,NM_015323.4;	C	ENST00000369278	Transcript	splice_donor_variant	-/4224	1687/2385	563/794				1		1	UFL1	HGNC	HGNC:23039	protein_coding	YES	CCDS5034.1	ENSP00000358283	O94874		UPI0000072D61	NM_015323.4				14/18																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	3	96549579	96549579	G	C	1	0	0	0	0	0	0	1	0	17460	1275	44	4		4	UFL1	6	96549579	Splice_Site	SNP	G	11LU022_TP	6831167	96549579	74256400	380	1052											
ASCC3	0	.	GRCh38	chr6	100516306	100516306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacccctagcatgtgggccCttcataatcggcttccattt	7	12	8	14	2	1	0	1	0	0	0	3	1	2	0	4	2	1	2	4	2	2	5	rs754980276		11LU022_TP	11LU022_NB	C	C																c.5949G>T	p.Lys1983Asn	p.K1983N	ENST00000369162	39/42	283	247	36	344	344	0	strelka-varscan-mutect	ASCC3,missense_variant,p.Lys1983Asn,ENST00000369162,NM_006828.3;	A	ENST00000369162	Transcript	missense_variant	6294/8146	5949/6609	1983/2202	K/N	aaG/aaT	rs754980276	1		-1	ASCC3	HGNC	HGNC:18697	protein_coding	YES	CCDS5046.1	ENSP00000358159	Q8N3C0		UPI000014145A	NM_006828.3	tolerated(0.28)		39/42		hmmpanther:PTHR24075,hmmpanther:PTHR24075:SF0,Pfam_domain:PF02889,PIRSF_domain:PIRSF039073,SMART_domains:SM00973,Superfamily_domains:SSF158702																	MODERATE	1	SNV	5			1										PASS		rs754980276	.												A	3	1	3	100516306	100516306	C	A	1	0	0	0	0	1	0	0	0	1175	680	24	2		2	ASCC3	6	100516306	Missense_Mutation	SNP	C	11LU022_TP	3966727	100516306	70289673	381	1053											
LIN28B	0	.	GRCh38	chr6	105078620	105078620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctccctcgagaagtgggagGcgggcatggctgtacatcac	8	8	14	11	2	2	1	1	0	1	1	4	3	2	2	1	4	1	3	1	4	2	1	novel		11LU022_TP	11LU022_NB	G	G																c.590G>T	p.Gly197Val	p.G197V	ENST00000345080	4/4	167	134	33	179	179	0	strelka-varscan-mutect	LIN28B,missense_variant,p.Gly197Val,ENST00000345080,NM_001004317.3;LIN28B,missense_variant,p.Gly205Val,ENST00000637759,;LIN28B,downstream_gene_variant,,ENST00000635857,;	T	ENST00000345080	Transcript	missense_variant	793/5505	590/753	197/250	G/V	gGc/gTc		1		1	LIN28B	HGNC	HGNC:32207	protein_coding	YES	CCDS34504.1	ENSP00000344401	Q6ZN17		UPI000035E7BD	NM_001004317.3	tolerated_low_confidence(0.2)		4/4		hmmpanther:PTHR11544:SF32,hmmpanther:PTHR11544																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	105078620	105078620	G	T	1	0	0	0	0	1	0	0	0	8714	1203	42	2		2	LIN28B	6	105078620	Missense_Mutation	SNP	G	11LU022_TP	4562314	105078620	65727359	382	1054											
SEC63	0	.	GRCh38	chr6	107908927	107908927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttacttaaagtttacttacGtttcatatccatatttcggg	10	18	6	7	2	1	0	1	0	0	0	3	0	2	0	1	1	3	3	1	1	7	9	rs754604388		11LU022_TP	11LU022_NB	G	G																c.733C>A	p.Arg245Ser	p.R245S	ENST00000369002	8/21	155	135	20	218	218	0	strelka-varscan-mutect	SEC63,missense_variant,p.Arg245Ser,ENST00000369002,NM_007214.4;SEC63,downstream_gene_variant,,ENST00000429168,;SEC63,splice_region_variant,,ENST00000489455,;SEC63,downstream_gene_variant,,ENST00000484803,;	T	ENST00000369002	Transcript	missense_variant,splice_region_variant	913/6411	733/2283	245/760	R/S	Cgt/Agt	rs754604388	1		-1	SEC63	HGNC	HGNC:21082	protein_coding	YES	CCDS5061.1	ENSP00000357998	Q9UGP8	A0A0S2Z5M1	UPI000000DBBB	NM_007214.4	deleterious(0)		8/21		Gene3D:2q0zX01,Pfam_domain:PF02889,hmmpanther:PTHR24075,SMART_domains:SM00973,Superfamily_domains:SSF158702																	MODERATE	1	SNV	1			1										PASS		rs754604388	.												T	3	4	3	107908927	107908927	G	T	1	0	0	0	0	1	0	0	0	14282	1159	40	1		1	SEC63	6	107908927	Missense_Mutation	SNP	G	11LU022_TP	2830307	107908927	62897052	383	1055											
AK9	0	.	GRCh38	chr6	109497498	109497498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttttctttgttctcaCaaatatatatacgattatga	12	18	6	5	1	2	1	1	1	2	0	3	3	2	2	0	1	1	2	0	1	6	9	novel		11LU022_TP	11LU022_NB	C	C																c.5282G>A	p.Cys1761Tyr	p.C1761Y	ENST00000424296	38/41	116	96	20	184	184	0	strelka-varscan-mutect	AK9,missense_variant,p.Cys1761Tyr,ENST00000424296,NM_001145128.2;AK9,missense_variant,p.Cys599Tyr,ENST00000470564,;AK9,missense_variant,p.Cys162Tyr,ENST00000490722,;RP5-919F19.5,intron_variant,,ENST00000423747,;	T	ENST00000424296	Transcript	missense_variant	5359/6326	5282/5736	1761/1911	C/Y	tGt/tAt		1		-1	AK9	HGNC	HGNC:33814	protein_coding	YES	CCDS55048.1	ENSP00000410186	Q5TCS8		UPI0001A48FC8	NM_001145128.2	tolerated(0.47)		38/41		hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF96																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	3	109497498	109497498	C	T	1	0	0	0	0	1	0	0	0	526	478	17	3		3	AK9	6	109497498	Missense_Mutation	SNP	C	11LU022_TP	1588571	109497498	61308481	384	1056											
AK9	0	.	GRCh38	chr6	109506414	109506414	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccatacccaccatttgcTgtgaaatccatcaatcacat	13	12	3	13	0	2	1	2	1	0	0	4	1	4	1	4	0	2	1	4	0	3	3	novel		11LU022_TP	11LU022_NB	T	T																c.4762A>T	p.Ser1588Cys	p.S1588C	ENST00000424296	35/41	245	217	28	340	340	0	strelka-varscan-mutect	AK9,missense_variant,p.Ser1588Cys,ENST00000424296,NM_001145128.2;AK9,missense_variant,p.Ser426Cys,ENST00000470564,;AK9,missense_variant,p.Ser3Cys,ENST00000490722,;RP5-919F19.5,intron_variant,,ENST00000423747,;	A	ENST00000424296	Transcript	missense_variant	4839/6326	4762/5736	1588/1911	S/C	Agc/Tgc		1		-1	AK9	HGNC	HGNC:33814	protein_coding	YES	CCDS55048.1	ENSP00000410186	Q5TCS8		UPI0001A48FC8	NM_001145128.2	deleterious(0)		35/41		Gene3D:3.40.50.300,hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF96,Superfamily_domains:SSF52540																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	3	109506414	109506414	T	A	1	0	0	0	0	1	0	0	0	526	1580	55	4		4	AK9	6	109506414	Missense_Mutation	SNP	T	11LU022_TP	8916	109506414	61299565	385	1057											
SLC22A16	0	.	GRCh38	chr6	110442436	110442436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctattactaacaggaccttGtaggtccagtgataaaagtt	13	12	9	7	0	0	1	0	1	0	0	1	2	1	2	2	2	2	3	2	2	6	7	novel		11LU022_TP	11LU022_NB	G	G																c.991C>A	p.Gln331Lys	p.Q331K	ENST00000368919	4/8	251	210	41	282	282	0	strelka-varscan-mutect	SLC22A16,missense_variant,p.Gln297Lys,ENST00000330550,;SLC22A16,missense_variant,p.Gln331Lys,ENST00000368919,NM_033125.3;SLC22A16,missense_variant,p.Gln248Lys,ENST00000451557,;SLC22A16,missense_variant,p.Gln288Lys,ENST00000437378,;SLC22A16,missense_variant,p.Gln161Lys,ENST00000434949,;SLC22A16,downstream_gene_variant,,ENST00000424139,;RN7SL617P,upstream_gene_variant,,ENST00000485298,;	T	ENST00000368919	Transcript	missense_variant	1058/1987	991/1734	331/577	Q/K	Caa/Aaa		1		-1	SLC22A16	HGNC	HGNC:20302	protein_coding	YES	CCDS5084.1	ENSP00000357915	Q86VW1	A0A0K0K1K9	UPI000000DC13	NM_033125.3	tolerated(0.48)		4/8		PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF186,Pfam_domain:PF00083,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		rs916105839	.												T	3	4	3	110442436	110442436	G	T	1	0	0	0	0	1	0	0	0	14713	1386	48	2		2	SLC22A16	6	110442436	Missense_Mutation	SNP	G	11LU022_TP	936022	110442436	60363543	386	1058											
TUBE1	0	.	GRCh38	chr6	112075982	112075982	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatgttattcattgcaTcaaagggcttcttatgctgc	10	14	7	10	0	3	0	2	0	1	0	3	0	3	0	1	1	3	4	1	1	4	5	novel		11LU022_TP	11LU022_NB	T	T																c.767A>C	p.Asp256Ala	p.D256A	ENST00000368662	8/12	71	61	10	101	101	0	strelka-varscan-mutect	TUBE1,missense_variant,p.Asp256Ala,ENST00000368662,NM_016262.4;TUBE1,non_coding_transcript_exon_variant,,ENST00000604814,;TUBE1,downstream_gene_variant,,ENST00000441191,;TUBE1,3_prime_UTR_variant,,ENST00000605457,;TUBE1,3_prime_UTR_variant,,ENST00000604743,;TUBE1,non_coding_transcript_exon_variant,,ENST00000604689,;TUBE1,downstream_gene_variant,,ENST00000368657,;TUBE1,downstream_gene_variant,,ENST00000604967,;TUBE1,upstream_gene_variant,,ENST00000603651,;	G	ENST00000368662	Transcript	missense_variant	846/2142	767/1428	256/475	D/A	gAt/gCt		1		-1	TUBE1	HGNC	HGNC:20775	protein_coding	YES	CCDS5100.1	ENSP00000357651	Q9UJT0		UPI0000136A4E	NM_016262.4	deleterious(0)		8/12		hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF13,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	112075982	112075982	T	G	1	0	0	0	0	1	0	0	0	17273	1435	50	5		5	TUBE1	6	112075982	Missense_Mutation	SNP	T	11LU022_TP	1633546	112075982	58729997	387	1059											
HS3ST5	0	.	GRCh38	chr6	114058117	114058117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggccacgcttaaactgcaGggcgcgaagtgggaattcag	11	6	14	10	3	1	0	1	0	0	0	1	2	1	1	1	3	2	2	1	3	4	2	rs777952604		11LU022_TP	11LU022_NB	G	G																c.181C>A	p.Leu61Met	p.L61M	ENST00000312719	5/5	149	122	27	178	177	1	strelka-varscan-mutect	HS3ST5,missense_variant,p.Leu61Met,ENST00000312719,;HS3ST5,missense_variant,p.Leu61Met,ENST00000411826,NM_153612.3;RP3-399L15.3,intron_variant,,ENST00000519104,;RP3-399L15.3,intron_variant,,ENST00000519270,;RP3-399L15.3,intron_variant,,ENST00000523087,;	T	ENST00000312719	Transcript	missense_variant	1370/3901	181/1041	61/346	L/M	Ctg/Atg	rs777952604	1		-1	HS3ST5	HGNC	HGNC:19419	protein_coding	YES	CCDS34517.1	ENSP00000427888	Q8IZT8		UPI00000740A8		deleterious(0.02)		5/5		hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF46																	MODERATE		SNV	2			1										PASS		rs777952604	.												T	3	4	3	114058117	114058117	G	T	1	0	0	0	0	1	0	0	0	7262	991	35	2		2	HS3ST5	6	114058117	Missense_Mutation	SNP	G	11LU022_TP	1982135	114058117	56747862	388	1060											
DSE	0	.	GRCh38	chr6	116435765	116435765	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatatatgacattgtccacAgaaacaaatacaaagattgg	19	9	6	7	0	0	3	0	1	0	2	1	3	1	3	1	1	2	0	1	1	7	5	novel		11LU022_TP	11LU022_NB	A	A																c.1297A>G	p.Arg433Gly	p.R433G	ENST00000452085	6/6	189	162	27	205	205	0	strelka-varscan-mutect	DSE,missense_variant,p.Arg433Gly,ENST00000452085,NM_001080976.1;DSE,missense_variant,p.Arg433Gly,ENST00000331677,;DSE,missense_variant,p.Arg433Gly,ENST00000359564,NM_013352.2;DSE,non_coding_transcript_exon_variant,,ENST00000606712,;	G	ENST00000452085	Transcript	missense_variant	1491/10586	1297/2877	433/958	R/G	Aga/Gga		1		1	DSE	HGNC	HGNC:21144	protein_coding	YES	CCDS5107.1	ENSP00000404049	Q9UL01		UPI0000073CB8	NM_001080976.1	tolerated(0.28)		6/6		hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	116435765	116435765	A	G	1	0	0	0	0	1	0	0	0	4595	180	7	5		5	DSE	6	116435765	Missense_Mutation	SNP	A	11LU022_TP	2377648	116435765	54370214	389	1061											
FAM26D	0	.	GRCh38	chr6	116558149	116558149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcactatagcttccttGgaaatagggtggatgaggat	12	11	13	5	0	1	1	1	1	0	0	2	4	2	4	1	5	1	1	1	5	5	5	novel		11LU022_TP	11LU022_NB	G	G																c.454G>A	p.Gly152Arg	p.G152R	ENST00000405399	4/4	118	106	12	125	125	0	strelka-varscan-mutect	FAM26D,missense_variant,p.Gly295Arg,ENST00000368596,;FAM26D,missense_variant,p.Gly109Arg,ENST00000368597,NM_001256889.1,NM_153036.3;FAM26D,missense_variant,p.Gly152Arg,ENST00000405399,NM_001256887.1;FAM26D,missense_variant,p.Gly151Arg,ENST00000628083,NM_001256888.1;FAM26D,missense_variant,p.Gly109Arg,ENST00000452373,;	A	ENST00000405399	Transcript	missense_variant	739/1165	454/516	152/171	G/R	Gga/Aga		1		1	FAM26D	HGNC	HGNC:21094	protein_coding	YES	CCDS59032.1	ENSP00000385836	Q5JW98		UPI000056D4A2	NM_001256887.1	tolerated(0.2)		4/4		hmmpanther:PTHR32261,hmmpanther:PTHR32261:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	116558149	116558149	G	A	1	0	0	0	0	1	0	0	0	5431	1349	47	3		3	FAM26D	6	116558149	Missense_Mutation	SNP	G	11LU022_TP	122384	116558149	54247830	390	1062											
GPRC6A	0	.	GRCh38	chr6	116792889	116792889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattttcagagacttcgtCaaaatgcaggagatgcaaag	17	9	9	6	1	2	2	2	0	0	2	3	4	2	2	0	1	2	2	0	1	5	3	novel		11LU022_TP	11LU022_NB	C	C																c.2034G>T	p.Leu678Phe	p.L678F	ENST00000310357	6/6	191	154	37	182	182	0	strelka-varscan-mutect	GPRC6A,missense_variant,p.Leu678Phe,ENST00000310357,NM_148963.3;GPRC6A,missense_variant,p.Leu607Phe,ENST00000368549,NM_001286355.1;GPRC6A,missense_variant,p.Leu503Phe,ENST00000530250,NM_001286354.1;	A	ENST00000310357	Transcript	missense_variant	2056/2860	2034/2781	678/926	L/F	ttG/ttT		1		-1	GPRC6A	HGNC	HGNC:18510	protein_coding	YES	CCDS5112.1	ENSP00000309493	Q5T6X5		UPI000013EFF9	NM_148963.3	tolerated(0.06)		6/6		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF5,Pfam_domain:PF00003,Prints_domain:PR00248																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	116792889	116792889	C	A	1	0	0	0	0	1	0	0	0	6607	825	29	2		2	GPRC6A	6	116792889	Missense_Mutation	SNP	C	11LU022_TP	234740	116792889	54013090	391	1063											
RFX6	0	.	GRCh38	chr6	116928935	116928935	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcgttttacacagacAcatcatctccagttgcatgt	10	12	6	13	1	2	1	1	0	1	1	4	1	2	1	2	0	3	4	2	0	1	3	novel		11LU022_TP	11LU022_NB	A	A																c.2575A>G	p.Thr859Ala	p.T859A	ENST00000332958	18/19	269	234	35	347	346	1	strelka-varscan-mutect	RFX6,missense_variant,p.Thr859Ala,ENST00000332958,NM_173560.3;	G	ENST00000332958	Transcript	missense_variant	2591/3460	2575/2787	859/928	T/A	Aca/Gca		1		1	RFX6	HGNC	HGNC:21478	protein_coding	YES	CCDS5113.1	ENSP00000332208	Q8HWS3		UPI00001609BE	NM_173560.3	tolerated_low_confidence(0.61)		18/19		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	116928935	116928935	A	G	1	0	0	0	0	1	0	0	0	13441	159	6	5		5	RFX6	6	116928935	Missense_Mutation	SNP	A	11LU022_TP	136046	116928935	53877044	392	1064											
FAM184A	0	.	GRCh38	chr6	119024169	119024169	+	Missense_Mutation	SNP	C	C	A																															tctgctgtaaaaagctgtgaCcttttcaaagtatcaagctc																								novel		11LU022_TP	11LU022_NB	C	C																c.804G>T	p.Arg268Ser	p.R268S	ENST00000338891	2/18	117	104	13	155	155	0	strelka-varscan-mutect	FAM184A,missense_variant,p.Arg268Ser,ENST00000338891,NM_024581.5;FAM184A,missense_variant,p.Arg225Ser,ENST00000621231,;FAM184A,missense_variant,p.Arg148Ser,ENST00000352896,NM_001100411.2;FAM184A,missense_variant,p.Arg148Ser,ENST00000368475,NM_001288576.1;FAM184A,missense_variant,p.Arg268Ser,ENST00000521531,;FAM184A,missense_variant,p.Arg148Ser,ENST00000522284,;FAM184A,upstream_gene_variant,,ENST00000448815,;RP11-351A11.1,intron_variant,,ENST00000518570,;	A	ENST00000338891	Transcript	missense_variant	1248/4141	804/3423	268/1140	R/S	agG/agT		1		-1	FAM184A	HGNC	HGNC:20991	protein_coding	YES	CCDS43499.1	ENSP00000342604	Q8NB25		UPI0000470B36	NM_024581.5	deleterious(0.01)		2/18		hmmpanther:PTHR18870:SF7,hmmpanther:PTHR18870																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	119024169	119024169	C	A	1	0	0	0	0	1	0	0	0	5358	506	18	2		2	FAM184A	6	119024169	Missense_Mutation	SNP	C	11LU022_TP	2095234	119024169	51781810	393	1065	24	2									
FAM184A	0	.	GRCh38	chr6	119024170	119024170	+	Missense_Mutation	SNP	C	C	A																															ctgctgtaaaaagctgtgacCttttcaaagtatcaagctca																								novel		11LU022_TP	11LU022_NB	C	C																c.803G>T	p.Arg268Met	p.R268M	ENST00000338891	2/18	118	104	14	155	155	0	strelka-varscan-mutect	FAM184A,missense_variant,p.Arg268Met,ENST00000338891,NM_024581.5;FAM184A,missense_variant,p.Arg225Met,ENST00000621231,;FAM184A,missense_variant,p.Arg148Met,ENST00000352896,NM_001100411.2;FAM184A,missense_variant,p.Arg148Met,ENST00000368475,NM_001288576.1;FAM184A,missense_variant,p.Arg268Met,ENST00000521531,;FAM184A,missense_variant,p.Arg148Met,ENST00000522284,;FAM184A,upstream_gene_variant,,ENST00000448815,;RP11-351A11.1,intron_variant,,ENST00000518570,;	A	ENST00000338891	Transcript	missense_variant	1247/4141	803/3423	268/1140	R/M	aGg/aTg		1		-1	FAM184A	HGNC	HGNC:20991	protein_coding	YES	CCDS43499.1	ENSP00000342604	Q8NB25		UPI0000470B36	NM_024581.5	deleterious(0)		2/18		hmmpanther:PTHR18870:SF7,hmmpanther:PTHR18870																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	119024170	119024170	C	A	1	0	0	0	0	1	0	0	0	5358	681	24	2		2	FAM184A	6	119024170	Missense_Mutation	SNP	C	11LU022_TP	1	119024170	51781809	394	1066	24	2									
MOXD1	0	.	GRCh38	chr6	132324034	132324034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggccagcctcaatcaccCcagcatcatatttccttata	12	10	5	14	0	3	1	3	0	0	1	4	1	4	1	5	1	2	1	5	1	4	4	novel		11LU022_TP	11LU022_NB	C	C																c.1010G>T	p.Gly337Val	p.G337V	ENST00000367963	7/12	151	138	13	206	206	0	strelka-mutect	MOXD1,missense_variant,p.Gly337Val,ENST00000367963,NM_015529.3;MOXD1,missense_variant,p.Gly269Val,ENST00000336749,;MOXD1,non_coding_transcript_exon_variant,,ENST00000489128,;	A	ENST00000367963	Transcript	missense_variant	1129/3059	1010/1842	337/613	G/V	gGg/gTg		1		-1	MOXD1	HGNC	HGNC:21063	protein_coding	YES	CCDS5152.2	ENSP00000356940	Q6UVY6		UPI000003F04F	NM_015529.3	deleterious(0)		7/12		hmmpanther:PTHR10157,hmmpanther:PTHR10157:SF28,Pfam_domain:PF03712,Superfamily_domains:SSF49742,Prints_domain:PR00767																	MODERATE	1	SNV	1			1										PASS		rs1226979129	.												A	3	1	3	132324034	132324034	C	A	1	0	0	0	0	1	0	0	0	9682	623	22	2		2	MOXD1	6	132324034	Missense_Mutation	SNP	C	11LU022_TP	13299864	132324034	38481945	395	1067											
MOXD1	0	.	GRCh38	chr6	132324098	132324098	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaattatctattaagcCtagaacaaaagcacataatt	18	11	4	8	0	1	2	0	0	1	2	2	2	2	2	2	0	3	1	2	0	9	6	novel		11LU022_TP	11LU022_NB	C	C																c.947-1G>T		p.X316_splice	ENST00000367963		152	139	13	243	243	0	strelka-mutect	MOXD1,splice_acceptor_variant,,ENST00000367963,NM_015529.3;MOXD1,splice_acceptor_variant,,ENST00000336749,;MOXD1,splice_acceptor_variant,,ENST00000489128,;	A	ENST00000367963	Transcript	splice_acceptor_variant	-/3059	947/1842	316/613				1		-1	MOXD1	HGNC	HGNC:21063	protein_coding	YES	CCDS5152.2	ENSP00000356940	Q6UVY6		UPI000003F04F	NM_015529.3				6/11																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	3	132324098	132324098	C	A	1	0	0	0	0	0	0	1	0	9682	695	24	2		2	MOXD1	6	132324098	Splice_Site	SNP	C	11LU022_TP	64	132324098	38481881	396	1068											
HBS1L	0	.	GRCh38	chr6	134982473	134982473	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatacctttcacggtacaagTttcattaggaggcattgcca	12	12	8	9	1	2	0	2	0	0	0	2	1	2	1	2	3	3	3	2	3	5	6	novel		11LU022_TP	11LU022_NB	T	T																c.1582A>T	p.Thr528Ser	p.T528S	ENST00000367837	13/18	86	78	8	105	105	0	strelka-mutect	HBS1L,missense_variant,p.Thr528Ser,ENST00000367837,NM_006620.3;HBS1L,missense_variant,p.Thr486Ser,ENST00000367826,NM_001145158.1;HBS1L,missense_variant,p.Thr463Ser,ENST00000415177,;HBS1L,missense_variant,p.Thr364Ser,ENST00000527578,;HBS1L,missense_variant,p.Thr398Ser,ENST00000533274,;HBS1L,missense_variant,p.Thr152Ser,ENST00000529169,;MIR3662,upstream_gene_variant,,ENST00000637030,;HBS1L,3_prime_UTR_variant,,ENST00000526100,;HBS1L,non_coding_transcript_exon_variant,,ENST00000527005,;	A	ENST00000367837	Transcript	missense_variant	1789/7163	1582/2055	528/684	T/S	Act/Tct		1		-1	HBS1L	HGNC	HGNC:4834	protein_coding	YES	CCDS5173.1	ENSP00000356811	Q9Y450	D9YZV0	UPI00000372EA	NM_006620.3	tolerated(0.39)		13/18		Gene3D:2.40.30.10,Pfam_domain:PF03144,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF188,Superfamily_domains:SSF50447																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	134982473	134982473	T	A	1	0	0	0	0	1	0	0	0	6873	1725	60	4		4	HBS1L	6	134982473	Missense_Mutation	SNP	T	11LU022_TP	2658375	134982473	35823506	397	1069											
SYNE1	0	.	GRCh38	chr6	152321729	152321729	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttttgtacctgaagttCttcaagttgagcatctattt	9	19	6	7	0	3	2	1	2	2	0	3	2	3	2	1	0	2	4	1	0	4	9	novel		11LU022_TP	11LU022_NB	C	C																c.16075G>T	p.Glu5359Ter	p.E5359*	ENST00000367255	83/146	188	166	22	295	295	0	strelka-mutect	SYNE1,stop_gained,p.Glu5359Ter,ENST00000367255,NM_182961.3;SYNE1,stop_gained,p.Glu5288Ter,ENST00000423061,NM_033071.3;SYNE1,stop_gained,p.Glu5015Ter,ENST00000341594,;SYNE1,stop_gained,p.Glu53Ter,ENST00000448038,;SYNE1,non_coding_transcript_exon_variant,,ENST00000490135,;SYNE1,upstream_gene_variant,,ENST00000367256,;	A	ENST00000367255	Transcript	stop_gained	16677/27748	16075/26394	5359/8797	E/*	Gaa/Taa		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			83/146		Coiled-coils_(Ncoils):Coil																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	3	152321729	152321729	C	A	1	0	0	0	0	0	1	0	0	15837	922	32	2		2	SYNE1	6	152321729	Nonsense_Mutation	SNP	C	11LU022_TP	17339256	152321729	18484250	398	1070											
SYNE1	0	.	GRCh38	chr6	152526104	152526104	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcccagacaggacctcCagaagggcaagcagtttaac	12	7	10	12	0	1	2	0	0	1	2	2	3	2	3	3	2	3	3	3	2	3	3			11LU022_TP	11LU022_NB	C	C																c.201G>T	p.=	p.L67L	ENST00000367255	5/146	298	265	33	333	333	0	strelka-varscan-mutect	SYNE1,synonymous_variant,p.=,ENST00000367255,NM_182961.3;SYNE1,synonymous_variant,p.=,ENST00000423061,NM_033071.3;SYNE1,synonymous_variant,p.=,ENST00000341594,;SYNE1,synonymous_variant,p.=,ENST00000367248,;SYNE1,synonymous_variant,p.=,ENST00000367253,;SYNE1,synonymous_variant,p.=,ENST00000413186,;SYNE1,synonymous_variant,p.=,ENST00000537750,;SYNE1,synonymous_variant,p.=,ENST00000466159,;SYNE1,synonymous_variant,p.=,ENST00000610489,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	A	ENST00000367255	Transcript	synonymous_variant	803/27748	201/26394	67/8797	L	ctG/ctT	COSM5439181,COSM5439182,COSM5439183,COSM5439184,COSM5439185	1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			5/146		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00033,Superfamily_domains:SSF47576											1,1,1,1,1						LOW	1	SNV	1		1,1,1,1,1	1										PASS		.	.												A	2	1	3	152526104	152526104	C	A	1	0	0	0	0	0	0	0	1	15837	581	21	2		2	SYNE1	6	152526104	Silent	SNP	C	11LU022_TP	204375	152526104	18279875	399	1071											
FNDC1	0	.	GRCh38	chr6	159215057	159215057	+	Silent	SNP	A	A	T																															gccaagagtccacgcagatcAcggggttttctcctgggcta																								novel		11LU022_TP	11LU022_NB	A	A																c.573A>T	p.=	p.S191S	ENST00000297267	5/23	401	359	42	542	542	0	strelka-varscan-mutect	FNDC1,synonymous_variant,p.=,ENST00000297267,NM_032532.2;FNDC1,synonymous_variant,p.=,ENST00000329629,;FNDC1,upstream_gene_variant,,ENST00000480856,;	T	ENST00000297267	Transcript	synonymous_variant	773/6552	573/5685	191/1894	S	tcA/tcT		1		1	FNDC1	HGNC	HGNC:21184	protein_coding	YES	CCDS47512.1	ENSP00000297267	Q4ZHG4		UPI0000579B80	NM_032532.2			5/23		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF8,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	159215057	159215057	A	T	1	0	0	0	0	0	0	0	1	5824	146	6	4		4	FNDC1	6	159215057	Silent	SNP	A	11LU022_TP	6688953	159215057	11590922	400	1072	25	2									
FNDC1	0	.	GRCh38	chr6	159215058	159215058	+	Missense_Mutation	SNP	C	C	T																															ccaagagtccacgcagatcaCggggttttctcctgggctac																								rs562863779		11LU022_TP	11LU022_NB	C	C																c.574C>T	p.Arg192Trp	p.R192W	ENST00000297267	5/23	395	355	40	543	543	0	strelka-varscan-mutect	FNDC1,missense_variant,p.Arg192Trp,ENST00000297267,NM_032532.2;FNDC1,missense_variant,p.Arg151Trp,ENST00000329629,;FNDC1,upstream_gene_variant,,ENST00000480856,;	T	ENST00000297267	Transcript	missense_variant	774/6552	574/5685	192/1894	R/W	Cgg/Tgg	rs562863779	1		1	FNDC1	HGNC	HGNC:21184	protein_coding	YES	CCDS47512.1	ENSP00000297267	Q4ZHG4		UPI0000579B80	NM_032532.2	deleterious(0)		5/23		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF8,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs562863779	.												T	3	4	3	159215058	159215058	C	T	1	0	0	0	0	1	0	0	0	5824	527	19	1		1	FNDC1	6	159215058	Missense_Mutation	SNP	C	11LU022_TP	1	159215058	11590921	401	1073	25	2									
FNDC1	0	.	GRCh38	chr6	159233970	159233970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcccgggtacccagcaGggcagcgccggggaagtcgg	6	2	18	15	6	0	0	0	0	0	0	1	1	0	1	4	5	3	3	4	5	2	1			11LU022_TP	11LU022_NB	G	G																c.3458G>T	p.Arg1153Met	p.R1153M	ENST00000297267	11/23	150	117	33	175	175	0	strelka-varscan-mutect	FNDC1,missense_variant,p.Arg1153Met,ENST00000297267,NM_032532.2;FNDC1,missense_variant,p.Arg1049Met,ENST00000329629,;	T	ENST00000297267	Transcript	missense_variant	3658/6552	3458/5685	1153/1894	R/M	aGg/aTg	COSM5255741	1		1	FNDC1	HGNC	HGNC:21184	protein_coding	YES	CCDS47512.1	ENSP00000297267	Q4ZHG4		UPI0000579B80	NM_032532.2	deleterious_low_confidence(0.02)		11/23		hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF8											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	3	159233970	159233970	G	T	1	0	0	0	0	1	0	0	0	5824	1000	35	2		2	FNDC1	6	159233970	Missense_Mutation	SNP	G	11LU022_TP	18912	159233970	11572009	402	1074											
LPA	0	.	GRCh38	chr6	160585155	160585155	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtgcctcgataactctGtccatcacctcggtagcagt	8	11	10	12	2	2	0	1	0	1	0	5	2	3	0	3	1	3	2	3	1	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.4180C>T	p.Gln1394Ter	p.Q1394*	ENST00000316300	26/39	187	151	36	280	280	0	strelka-varscan-mutect	LPA,stop_gained,p.Gln1394Ter,ENST00000316300,NM_005577.2;LPA,downstream_gene_variant,,ENST00000447678,;	A	ENST00000316300	Transcript	stop_gained	4225/6414	4180/6123	1394/2040	Q/*	Cag/Tag		1		-1	LPA	HGNC	HGNC:6667	protein_coding	YES	CCDS43523.1	ENSP00000321334	P08519		UPI0000458AC9	NM_005577.2			26/39		Gene3D:2.40.20.10,Pfam_domain:PF00051,Prints_domain:PR00018,PROSITE_profiles:PS50070,hmmpanther:PTHR24261,hmmpanther:PTHR24261:SF2,SMART_domains:SM00130,Superfamily_domains:SSF57440																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	3	160585155	160585155	G	A	1	0	0	0	0	0	1	0	0	8806	1386	48	3		3	LPA	6	160585155	Nonsense_Mutation	SNP	G	11LU022_TP	1351185	160585155	10220824	403	1075											
LPA	0	.	GRCh38	chr6	160599567	160599567	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgaccaagcttggcaagTtcttcctgtgacagtggtgg	9	11	13	8	0	1	3	0	2	1	1	2	3	2	3	2	3	1	3	2	3	2	3	novel		11LU022_TP	11LU022_NB	T	T																c.3220A>T	p.Thr1074Ser	p.T1074S	ENST00000316300	20/39	387	328	59	435	435	0	strelka-varscan-mutect	LPA,missense_variant,p.Thr1074Ser,ENST00000316300,NM_005577.2;LPA,missense_variant,p.Thr321Ser,ENST00000447678,;	A	ENST00000316300	Transcript	missense_variant	3265/6414	3220/6123	1074/2040	T/S	Act/Tct		1		-1	LPA	HGNC	HGNC:6667	protein_coding	YES	CCDS43523.1	ENSP00000321334	P08519		UPI0000458AC9	NM_005577.2	tolerated(0.29)		20/39		Gene3D:2.40.20.10,Pfam_domain:PF00051,PROSITE_profiles:PS50070,hmmpanther:PTHR24261,hmmpanther:PTHR24261:SF2,SMART_domains:SM00130,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	160599567	160599567	T	A	1	0	0	0	0	1	0	0	0	8806	1725	60	4		4	LPA	6	160599567	Missense_Mutation	SNP	T	11LU022_TP	14412	160599567	10206412	404	1076											
PLG	0	.	GRCh38	chr6	160752238	160752238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actctgtgctgggcatttggCcggaggcactgacagttgcc	6	10	14	11	1	1	1	0	1	1	0	1	2	1	2	2	4	2	4	2	4	0	2	rs138277465		11LU022_TP	11LU022_NB	C	C																c.2249C>A	p.Ala750Asp	p.A750D	ENST00000308192	18/19	248	221	27	333	333	0	strelka-varscan-mutect	PLG,missense_variant,p.Ala750Asp,ENST00000308192,NM_000301.3;PLG,non_coding_transcript_exon_variant,,ENST00000461414,;PLG,non_coding_transcript_exon_variant,,ENST00000467466,;RP1-81D8.5,downstream_gene_variant,,ENST00000612111,;	A	ENST00000308192	Transcript	missense_variant	2312/2741	2249/2433	750/810	A/D	gCc/gAc	rs138277465,COSM108513	1		1	PLG	HGNC	HGNC:9071	protein_coding	YES	CCDS5279.1	ENSP00000308938	P00747		UPI000000D8B8	NM_000301.3	tolerated(0.37)		18/19		Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001150,PROSITE_profiles:PS50240,hmmpanther:PTHR24261,hmmpanther:PTHR24261:SF2,SMART_domains:SM00020,Superfamily_domains:SSF50494											1,1						MODERATE	1	SNV	1		0,1	1										PASS		rs138277465	.												A	3	1	3	160752238	160752238	C	A	1	0	0	0	0	1	0	0	0	12181	739	26	2		2	PLG	6	160752238	Missense_Mutation	SNP	C	11LU022_TP	152671	160752238	10053741	405	1077											
ELFN1	0	.	GRCh38	chr7	1746493	1746493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccacagcgtggaggccGccgggccccctcgtgccagc	5	3	15	18	4	0	0	0	0	0	0	1	1	0	1	6	4	3	1	6	4	0	0	novel		11LU022_TP	11LU022_NB	G	G																c.1897G>T	p.Ala633Ser	p.A633S	ENST00000424383	3/3	106	83	23	118	118	0	strelka-varscan-mutect	ELFN1,missense_variant,p.Ala633Ser,ENST00000424383,;ELFN1,missense_variant,p.Ala633Ser,ENST00000561626,NM_001128636.2;ELFN1-AS1,upstream_gene_variant,,ENST00000453348,;ELFN1-AS1,upstream_gene_variant,,ENST00000415399,;	T	ENST00000424383	Transcript	missense_variant	2384/3845	1897/2487	633/828	A/S	Gcc/Tcc		1		1	ELFN1	HGNC	HGNC:33154	protein_coding	YES	CCDS59046.1	ENSP00000456548	P0C7U0		UPI0000251E11		tolerated(0.16)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24367:SF34,hmmpanther:PTHR24367																	MODERATE		SNV	5			1										PASS		rs1301121297	.												T	3	4	3	1746493	1746493	G	T	1	0	0	0	0	1	0	0	0	4891	1087	38	1		1	ELFN1	7	1746493	Missense_Mutation	SNP	G	11LU022_TP		1746493	157599480	406	1078											
SNX8	0	.	GRCh38	chr7	2256873	2256873	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccggagcagggcggactcaCctccttgtgcccttggatct	5	9	13	14	2	2	0	1	0	1	0	3	3	3	3	4	4	2	1	4	4	0	2			11LU022_TP	11LU022_NB	C	C																c.1284+1G>T		p.X428_splice	ENST00000222990		82	54	28	73	73	0	strelka-varscan-mutect	SNX8,splice_donor_variant,,ENST00000222990,NM_013321.3;SNX8,downstream_gene_variant,,ENST00000617724,;SNX8,splice_donor_variant,,ENST00000480807,;SNX8,downstream_gene_variant,,ENST00000479689,;	A	ENST00000222990	Transcript	splice_donor_variant	-/4727	1284/1398	428/465			COSM746422	1		-1	SNX8	HGNC	HGNC:14972	protein_coding	YES	CCDS5331.1	ENSP00000222990	Q9Y5X2		UPI0000135B46	NM_013321.3				10/10												1						HIGH	1	SNV	1		1	1										PASS		.	.												A	5	1	3	2256873	2256873	C	A	1	0	0	0	0	0	0	1	0	15229	521	18	2		2	SNX8	7	2256873	Splice_Site	SNP	C	11LU022_TP	510380	2256873	157089100	407	1079											
BRAT1	0	.	GRCh38	chr7	2544971	2544971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcgcaggccctggatcCagccgctgcgcacggtgggg	5	4	19	13	4	0	0	0	0	0	0	1	2	1	2	3	6	3	3	3	6	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.368G>T	p.Trp123Leu	p.W123L	ENST00000340611	4/14	185	120	65	159	159	0	strelka-varscan-mutect	BRAT1,missense_variant,p.Trp123Leu,ENST00000340611,NM_152743.3;BRAT1,upstream_gene_variant,,ENST00000473879,;BRAT1,non_coding_transcript_exon_variant,,ENST00000469750,;BRAT1,non_coding_transcript_exon_variant,,ENST00000467558,;BRAT1,intron_variant,,ENST00000421712,;BRAT1,upstream_gene_variant,,ENST00000493232,;	A	ENST00000340611	Transcript	missense_variant	625/2915	368/2466	123/821	W/L	tGg/tTg		1		-1	BRAT1	HGNC	HGNC:21701	protein_coding	YES	CCDS5334.1	ENSP00000339637	Q6PJG6		UPI00001AEB20	NM_152743.3	deleterious(0)		4/14		hmmpanther:PTHR21331,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	2544971	2544971	C	A	1	0	0	0	0	1	0	0	0	1667	595	21	2		2	BRAT1	7	2544971	Missense_Mutation	SNP	C	11LU022_TP	288098	2544971	156801002	408	1080											
TNRC18	0	.	GRCh38	chr7	5345754	5345754	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgtagccaccaccgcTggcctcgtcctcctcctcga	5	8	8	20	3	0	0	0	0	0	0	5	1	3	0	8	1	2	2	8	1	1	1	novel		11LU022_TP	11LU022_NB	T	T																c.5527A>T	p.Ser1843Cys	p.S1843C	ENST00000430969	18/30	273	217	56	244	244	0	strelka-varscan-mutect	TNRC18,missense_variant,p.Ser1843Cys,ENST00000399537,;TNRC18,missense_variant,p.Ser1843Cys,ENST00000430969,NM_001080495.2;	A	ENST00000430969	Transcript	missense_variant	5876/10562	5527/8907	1843/2968	S/C	Agc/Tgc		1		-1	TNRC18	HGNC	HGNC:11962	protein_coding	YES	CCDS47534.1	ENSP00000395538	O15417		UPI00016632FD	NM_001080495.2	deleterious(0.02)		18/30		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	5345754	5345754	T	A	1	0	0	0	0	1	0	0	0	16812	1580	55	4		4	TNRC18	7	5345754	Missense_Mutation	SNP	T	11LU022_TP	2800783	5345754	154000219	409	1081											
PHF14	0	.	GRCh38	chr7	11038856	11038856	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taggcagaatcacagggcagGttagtttctttccaattgct	10	13	10	8	0	2	1	1	0	1	1	3	1	3	1	1	3	1	5	1	3	4	5	novel		11LU022_TP	11LU022_NB	G	G																c.2076+1G>T		p.X692_splice	ENST00000403050		128	109	19	84	84	0	strelka-varscan-mutect	PHF14,splice_donor_variant,,ENST00000403050,NM_014660.3;PHF14,splice_donor_variant,,ENST00000634607,;PHF14,upstream_gene_variant,,ENST00000481418,;PHF14,splice_donor_variant,,ENST00000490957,;PHF14,splice_donor_variant,,ENST00000423760,;PHF14,splice_donor_variant,,ENST00000521747,;PHF14,downstream_gene_variant,,ENST00000497851,;	T	ENST00000403050	Transcript	splice_donor_variant	-/4276	2076/2667	692/888				1		1	PHF14	HGNC	HGNC:22203	protein_coding	YES	CCDS47542.1	ENSP00000385795	O94880		UPI000020EB41	NM_014660.3				11/16																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	3	11038856	11038856	G	T	1	0	0	0	0	0	0	1	0	11914	1275	44	2		2	PHF14	7	11038856	Splice_Site	SNP	G	11LU022_TP	5693102	11038856	148307117	410	1082											
ELMO1	0	.	GRCh38	chr7	37271877	37271877	+	Silent	SNP	G	G	T																															gtgccattttttatctcattGcggttctggaaaagaagaaa																								rs376344909		11LU022_TP	11LU022_NB	G	G																c.198C>A	p.=	p.R66R	ENST00000310758	5/22	129	119	10	194	194	0	strelka-varscan	ELMO1,synonymous_variant,p.=,ENST00000310758,NM_001206480.2,NM_014800.10;ELMO1,synonymous_variant,p.=,ENST00000442504,NM_001206482.1;ELMO1,synonymous_variant,p.=,ENST00000448602,;ELMO1,synonymous_variant,p.=,ENST00000455879,;ELMO1,synonymous_variant,p.=,ENST00000455119,;ELMO1,synonymous_variant,p.=,ENST00000453399,;ELMO1,non_coding_transcript_exon_variant,,ENST00000463390,;	T	ENST00000310758	Transcript	synonymous_variant	846/4022	198/2184	66/727	R	cgC/cgA	rs376344909	1		-1	ELMO1	HGNC	HGNC:16286	protein_coding	YES	CCDS5449.1	ENSP00000312185	Q92556	A4D1X5	UPI000006F687	NM_001206480.2,NM_014800.10			5/22		hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF23																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	37271877	37271877	G	T	1	0	0	0	0	0	0	0	1	4899	1333	46	2		2	ELMO1	7	37271877	Silent	SNP	G	11LU022_TP	26233021	37271877	122074096	411	1083	26	2									
ELMO1	0	.	GRCh38	chr7	37271878	37271878	+	Missense_Mutation	SNP	C	C	T																															tgccattttttatctcattgCggttctggaaaagaagaaaa																										11LU022_TP	11LU022_NB	C	C																c.197G>A	p.Arg66His	p.R66H	ENST00000310758	5/22	130	120	10	190	189	1	strelka-varscan	ELMO1,missense_variant,p.Arg66His,ENST00000310758,NM_001206480.2,NM_014800.10;ELMO1,missense_variant,p.Arg66His,ENST00000442504,NM_001206482.1;ELMO1,missense_variant,p.Arg66His,ENST00000448602,;ELMO1,missense_variant,p.Arg66His,ENST00000455879,;ELMO1,missense_variant,p.Arg66His,ENST00000455119,;ELMO1,missense_variant,p.Arg66His,ENST00000453399,;ELMO1,non_coding_transcript_exon_variant,,ENST00000463390,;	T	ENST00000310758	Transcript	missense_variant	845/4022	197/2184	66/727	R/H	cGc/cAc	COSM3942204	1		-1	ELMO1	HGNC	HGNC:16286	protein_coding	YES	CCDS5449.1	ENSP00000312185	Q92556	A4D1X5	UPI000006F687	NM_001206480.2,NM_014800.10	deleterious(0)		5/22		hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF23											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	3	37271878	37271878	C	T	1	0	0	0	0	1	0	0	0	4899	782	27	1		1	ELMO1	7	37271878	Missense_Mutation	SNP	C	11LU022_TP	1	37271878	122074095	412	1084	26	2									
INHBA	0	.	GRCh38	chr7	41690126	41690126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccgcccttctttttccCttccccctcctcttctttct	1	18	1	21	1	4	0	0	0	4	0	8	0	8	0	7	0	0	0	7	0	0	6	novel		11LU022_TP	11LU022_NB	C	C																c.805G>T	p.Gly269Trp	p.G269W	ENST00000242208	3/3	205	154	51	220	218	2	strelka-varscan	INHBA,missense_variant,p.Gly269Trp,ENST00000242208,NM_002192.2;INHBA,missense_variant,p.Gly269Trp,ENST00000638023,;INHBA,missense_variant,p.Gly269Trp,ENST00000442711,;INHBA-AS1,upstream_gene_variant,,ENST00000415848,;INHBA-AS1,upstream_gene_variant,,ENST00000422822,;INHBA-AS1,upstream_gene_variant,,ENST00000420821,;INHBA,non_coding_transcript_exon_variant,,ENST00000464515,;INHBA,intron_variant,,ENST00000416150,;	A	ENST00000242208	Transcript	missense_variant	1052/6064	805/1281	269/426	G/W	Ggg/Tgg		1		-1	INHBA	HGNC	HGNC:6066	protein_coding	YES	CCDS5464.1	ENSP00000242208	P08476	A4D1W7	UPI000012D421	NM_002192.2	deleterious_low_confidence(0)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR11848:SF133,hmmpanther:PTHR11848,Pfam_domain:PF00688,Prints_domain:PR00670																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	41690126	41690126	C	A	1	0	0	0	0	1	0	0	0	7643	681	24	2		2	INHBA	7	41690126	Missense_Mutation	SNP	C	11LU022_TP	4418248	41690126	117655847	413	1085											
GCK	0	.	GRCh38	chr7	44145261	44145261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagcctgcgcacgctggCatggaaccgctccttgaagc	7	7	12	15	4	1	1	1	1	0	0	2	2	2	2	3	2	4	4	3	2	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.1276G>A	p.Ala426Thr	p.A426T	ENST00000345378	10/10	291	231	60	297	296	1	strelka-varscan	GCK,missense_variant,p.Ala425Thr,ENST00000403799,NM_000162.3;GCK,missense_variant,p.Ala424Thr,ENST00000395796,NM_033508.1;GCK,missense_variant,p.Ala426Thr,ENST00000345378,NM_033507.1;GCK,missense_variant,p.Ala424Thr,ENST00000616242,;GCK,missense_variant,p.Ala408Thr,ENST00000437084,;GCK,missense_variant,p.Ala109Thr,ENST00000336642,;MYL7,upstream_gene_variant,,ENST00000458240,;MYL7,upstream_gene_variant,,ENST00000457314,;MYL7,upstream_gene_variant,,ENST00000223364,NM_021223.2;MYL7,upstream_gene_variant,,ENST00000447951,;MYL7,upstream_gene_variant,,ENST00000446581,;MYL7,upstream_gene_variant,,ENST00000431007,;MYL7,upstream_gene_variant,,ENST00000434895,;GCK,downstream_gene_variant,,ENST00000473353,;GCK,non_coding_transcript_exon_variant,,ENST00000459642,;MYL7,upstream_gene_variant,,ENST00000457910,;MYL7,upstream_gene_variant,,ENST00000431289,;MYL7,upstream_gene_variant,,ENST00000476118,;	T	ENST00000345378	Transcript	missense_variant	1438/2421	1276/1401	426/466	A/T	Gcc/Acc		1		-1	GCK	HGNC	HGNC:4195	protein_coding	YES	CCDS5480.1	ENSP00000223366	P35557		UPI000002AB76	NM_033507.1	tolerated(0.34)		10/10		Gene3D:3.40.367.20,Pfam_domain:PF03727,PROSITE_profiles:PS51748,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF3,Superfamily_domains:SSF53067																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	3	44145261	44145261	C	T	1	0	0	0	0	1	0	0	0	6163	710	25	3		3	GCK	7	44145261	Missense_Mutation	SNP	C	11LU022_TP	2455135	44145261	115200712	414	1086											
NUDCD3	0	.	GRCh38	chr7	44404536	44404536	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacgcgctccccattttcCtccagcatggccacacgaat	9	8	8	16	3	0	0	0	0	0	0	3	2	3	1	5	2	1	2	5	2	1	2	novel		11LU022_TP	11LU022_NB	C	C																c.690G>A	p.=	p.E230E	ENST00000355451	4/6	130	108	22	139	139	0	strelka-varscan	NUDCD3,synonymous_variant,p.=,ENST00000355451,NM_015332.3;NUDCD3,non_coding_transcript_exon_variant,,ENST00000460110,;NUDCD3,non_coding_transcript_exon_variant,,ENST00000493613,;NUDCD3,non_coding_transcript_exon_variant,,ENST00000472246,;NUDCD3,upstream_gene_variant,,ENST00000338427,;NUDCD3,upstream_gene_variant,,ENST00000487118,;NUDCD3,non_coding_transcript_exon_variant,,ENST00000464812,;	T	ENST00000355451	Transcript	synonymous_variant	970/8256	690/1086	230/361	E	gaG/gaA		1		-1	NUDCD3	HGNC	HGNC:22208	protein_coding	YES	CCDS5490.2	ENSP00000347626	Q8IVD9		UPI000020EEEB	NM_015332.3			4/6		Gene3D:2.60.40.790,Pfam_domain:PF04969,PROSITE_profiles:PS51203,hmmpanther:PTHR12356,hmmpanther:PTHR12356:SF19,Superfamily_domains:SSF49764																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	44404536	44404536	C	T	1	0	0	0	0	0	0	0	1	10790	680	24	3		3	NUDCD3	7	44404536	Silent	SNP	C	11LU022_TP	259275	44404536	114941437	415	1087											
ABCA13	0	.	GRCh38	chr7	48275947	48275947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtataaattcaatggctcTtcaaaagataactttgcagt	16	13	6	6	0	3	1	2	0	1	1	3	1	3	1	0	1	2	3	0	1	8	6	novel		11LU022_TP	11LU022_NB	T	T																c.6281T>C	p.Leu2094Pro	p.L2094P	ENST00000435803	17/62	252	201	51	256	256	0	strelka-varscan	ABCA13,missense_variant,p.Leu2094Pro,ENST00000435803,NM_152701.4;ABCA13,upstream_gene_variant,,ENST00000544596,;ABCA13,upstream_gene_variant,,ENST00000611776,;ABCA13,downstream_gene_variant,,ENST00000417403,;	C	ENST00000435803	Transcript	missense_variant	6305/17184	6281/15177	2094/5058	L/P	cTt/cCt		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4	tolerated(0.2)		17/62																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	48275947	48275947	T	C	1	0	0	0	0	1	0	0	0	35	1609	56	5		5	ABCA13	7	48275947	Missense_Mutation	SNP	T	11LU022_TP	3871411	48275947	111070026	416	1088											
VWC2	0	.	GRCh38	chr7	49775657	49775657	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacgagggcggcagcggccgGgactggaagagcaagagcgg	10	1	21	9	5	0	2	0	0	0	2	0	6	0	4	1	6	3	2	1	6	2	0	novel		11LU022_TP	11LU022_NB	G	G																c.222G>T	p.=	p.R74R	ENST00000340652	2/4	135	110	25	168	168	0	strelka-varscan	VWC2,synonymous_variant,p.=,ENST00000340652,NM_198570.3;	T	ENST00000340652	Transcript	synonymous_variant	778/11299	222/978	74/325	R	cgG/cgT		1		1	VWC2	HGNC	HGNC:30200	protein_coding	YES	CCDS5508.1	ENSP00000341819	Q2TAL6		UPI00002373A5	NM_198570.3			2/4																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	49775657	49775657	G	T	1	0	0	0	0	0	0	0	1	17802	1219	43	2		2	VWC2	7	49775657	Silent	SNP	G	11LU022_TP	1499710	49775657	109570316	417	1089											
VWC2	0	.	GRCh38	chr7	49775989	49775989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgcaccgaggaggggcCgctgtgcgcgcagcccgagt	5	5	17	14	5	0	0	0	0	0	0	0	3	0	1	4	3	3	3	4	3	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.554C>A	p.Pro185Gln	p.P185Q	ENST00000340652	2/4	311	246	65	408	407	1	strelka-varscan	VWC2,missense_variant,p.Pro185Gln,ENST00000340652,NM_198570.3;	A	ENST00000340652	Transcript	missense_variant	1110/11299	554/978	185/325	P/Q	cCg/cAg		1		1	VWC2	HGNC	HGNC:30200	protein_coding	YES	CCDS5508.1	ENSP00000341819	Q2TAL6		UPI00002373A5	NM_198570.3	deleterious(0)		2/4		hmmpanther:PTHR11339,SMART_domains:SM00214																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	49775989	49775989	C	A	1	0	0	0	0	1	0	0	0	17802	652	23	1		1	VWC2	7	49775989	Missense_Mutation	SNP	C	11LU022_TP	332	49775989	109569984	418	1090											
POM121L12	0	.	GRCh38	chr7	53036449	53036449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgtgctggtccagcccGccccatccgccatctgggac	4	8	10	19	3	1	0	0	0	1	0	4	1	4	1	7	2	2	1	7	2	0	1	rs202031574		11LU022_TP	11LU022_NB	G	G																c.778G>A	p.Ala260Thr	p.A260T	ENST00000408890	1/1	165	141	24	147	146	1	strelka-varscan	POM121L12,missense_variant,p.Ala260Thr,ENST00000408890,NM_182595.3;	A	ENST00000408890	Transcript	missense_variant	808/1283	778/891	260/296	A/T	Gcc/Acc	rs202031574,COSM1090729	1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3	tolerated_low_confidence(0.53)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30											0,1						MODERATE	1	SNV			0,1	1										PASS		.	.												A	3	1	3	53036449	53036449	G	A	1	0	0	0	0	1	0	0	0	12352	1087	38	1		1	POM121L12	7	53036449	Missense_Mutation	SNP	G	11LU022_TP	3260460	53036449	106309524	419	1091											
CALN1	0	.	GRCh38	chr7	72278798	72278798	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggcggtcacatggtggaaCggcatcttttccctgcccaa	7	9	11	14	3	2	0	1	0	1	0	3	1	3	1	3	5	2	1	3	5	2	2	rs749576958		11LU022_TP	11LU022_NB	C	C																c.132G>T	p.=	p.P44P	ENST00000395275	3/7	164	123	41	169	169	0	strelka-varscan	CALN1,synonymous_variant,p.=,ENST00000395275,NM_031468.3;CALN1,synonymous_variant,p.=,ENST00000329008,NM_001017440.2;CALN1,synonymous_variant,p.=,ENST00000395276,;CALN1,synonymous_variant,p.=,ENST00000431984,;CALN1,synonymous_variant,p.=,ENST00000446128,;	A	ENST00000395275	Transcript	synonymous_variant	521/9459	132/786	44/261	P	ccG/ccT	rs749576958	1		-1	CALN1	HGNC	HGNC:13248	protein_coding	YES	CCDS47603.1	ENSP00000378690	Q9BXU9		UPI0000D4B903	NM_031468.3			3/7																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	3	72278798	72278798	C	A	1	0	0	0	0	0	0	0	1	2282	523	19	1		1	CALN1	7	72278798	Silent	SNP	C	11LU022_TP	19242349	72278798	87067175	420	1092											
DNAJC30	0	.	GRCh38	chr7	73682889	73682889	+	Frame_Shift_Del	DEL	C	C	-																															ccgggccctcaggcgccgttCccgctccagttgttccccgt																								novel		11LU022_TP	11LU022_NB	C	C																c.535delG	p.Glu179AsnfsTer4	p.E179Nfs*4	ENST00000395176	1/1	222	181	41	239	239	0	sindel-varindel-pindel	DNAJC30,frameshift_variant,p.Glu179AsnfsTer4,ENST00000395176,NM_032317.2;WBSCR22,upstream_gene_variant,,ENST00000265758,NM_017528.4;WBSCR22,upstream_gene_variant,,ENST00000423497,NM_001202560.2;WBSCR22,upstream_gene_variant,,ENST00000441822,;WBSCR22,upstream_gene_variant,,ENST00000421304,;WBSCR22,upstream_gene_variant,,ENST00000464615,;WBSCR22,upstream_gene_variant,,ENST00000436944,;WBSCR22,upstream_gene_variant,,ENST00000463307,;WBSCR22,upstream_gene_variant,,ENST00000430270,;WBSCR22,upstream_gene_variant,,ENST00000432522,;WBSCR22,upstream_gene_variant,,ENST00000421744,;WBSCR22,upstream_gene_variant,,ENST00000430446,;WBSCR22,upstream_gene_variant,,ENST00000487006,;WBSCR22,upstream_gene_variant,,ENST00000428163,;WBSCR22,upstream_gene_variant,,ENST00000478670,;WBSCR22,upstream_gene_variant,,ENST00000496153,;	-	ENST00000395176	Transcript	frameshift_variant	565/2485	535/681	179/226	E/X	Gaa/aa		1		-1	DNAJC30	HGNC	HGNC:16410	protein_coding	YES	CCDS5556.1	ENSP00000378605	Q96LL9		UPI00000375B0	NM_032317.2			1/1		Low_complexity_(Seg):seg																	HIGH		deletion				1										PASS		.	.												-	7	5	3	73682889	73682889	C	-	1	0	1	0	1	0	0	0	0	4461	864	30	0		0	DNAJC30	7	73682889	Frame_Shift_Del	DEL	C	11LU022_TP	1404091	73682889	85663084	421	1093											
RSBN1L	0	.	GRCh38	chr7	77765531	77765531	+	Missense_Mutation	SNP	G	G	T																															ctcatggtacttacagagctGgcccaatgagacaaataagc																								novel		11LU022_TP	11LU022_NB	G	G																c.1381G>T	p.Gly461Cys	p.G461C	ENST00000334955	4/8	100	83	17	139	139	0	strelka-varscan	RSBN1L,missense_variant,p.Gly461Cys,ENST00000334955,NM_198467.2;RSBN1L,missense_variant,p.Gly191Cys,ENST00000445288,;RSBN1L,5_prime_UTR_variant,,ENST00000445512,;RSBN1L,upstream_gene_variant,,ENST00000441514,;RSBN1L,non_coding_transcript_exon_variant,,ENST00000468035,;RSBN1L,upstream_gene_variant,,ENST00000462800,;	T	ENST00000334955	Transcript	missense_variant	1408/6422	1381/2541	461/846	G/C	Ggc/Tgc		1		1	RSBN1L	HGNC	HGNC:24765	protein_coding	YES	CCDS43607.1	ENSP00000334040	Q6PCB5		UPI000020F469	NM_198467.2	deleterious(0)		4/8		hmmpanther:PTHR13354:SF9,hmmpanther:PTHR13354																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	77765531	77765531	G	T	1	0	0	0	0	1	0	0	0	13953	1348	47	2		2	RSBN1L	7	77765531	Missense_Mutation	SNP	G	11LU022_TP	4082642	77765531	81580442	422	1094	27	2									
RSBN1L	0	.	GRCh38	chr7	77765532	77765532	+	Missense_Mutation	SNP	G	G	T																															tcatggtacttacagagctgGcccaatgagacaaataagct																								novel		11LU022_TP	11LU022_NB	G	G																c.1382G>T	p.Gly461Val	p.G461V	ENST00000334955	4/8	99	83	16	136	135	1	strelka-varscan	RSBN1L,missense_variant,p.Gly461Val,ENST00000334955,NM_198467.2;RSBN1L,missense_variant,p.Gly191Val,ENST00000445288,;RSBN1L,5_prime_UTR_variant,,ENST00000445512,;RSBN1L,upstream_gene_variant,,ENST00000441514,;RSBN1L,non_coding_transcript_exon_variant,,ENST00000468035,;RSBN1L,upstream_gene_variant,,ENST00000462800,;	T	ENST00000334955	Transcript	missense_variant	1409/6422	1382/2541	461/846	G/V	gGc/gTc		1		1	RSBN1L	HGNC	HGNC:24765	protein_coding	YES	CCDS43607.1	ENSP00000334040	Q6PCB5		UPI000020F469	NM_198467.2	deleterious(0)		4/8		hmmpanther:PTHR13354:SF9,hmmpanther:PTHR13354																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	77765532	77765532	G	T	1	0	0	0	0	1	0	0	0	13953	1203	42	2		2	RSBN1L	7	77765532	Missense_Mutation	SNP	G	11LU022_TP	1	77765532	81580441	423	1095	27	2									
PCLO	0	.	GRCh38	chr7	82952975	82952975	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgatgtgggagctgcttGaaatgaagagggtgctgtga	11	10	16	4	0	0	5	0	4	0	1	0	6	0	6	0	2	4	3	0	2	3	1	novel		11LU022_TP	11LU022_NB	G	G																c.7978C>T	p.Gln2660Ter	p.Q2660*	ENST00000333891	5/25	168	143	25	153	153	0	strelka-varscan	PCLO,stop_gained,p.Gln2660Ter,ENST00000333891,NM_033026.5;PCLO,stop_gained,p.Gln2660Ter,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	A	ENST00000333891	Transcript	stop_gained	8316/20329	7978/15429	2660/5142	Q/*	Caa/Taa		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5			5/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	3	82952975	82952975	G	A	1	0	0	0	0	0	1	0	0	11671	1299	45	3		3	PCLO	7	82952975	Nonsense_Mutation	SNP	G	11LU022_TP	5187443	82952975	76392998	424	1096											
SEMA3A	0	.	GRCh38	chr7	84011204	84011204	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttcatcaaaatgagtgtCaatgccatttggacctggca	12	11	9	9	0	3	1	3	1	0	0	3	2	3	2	2	2	1	2	2	2	3	2	novel		11LU022_TP	11LU022_NB	C	C																c.904G>C	p.Asp302His	p.D302H	ENST00000265362	8/17	128	102	26	140	140	0	strelka-varscan	SEMA3A,missense_variant,p.Asp302His,ENST00000265362,NM_006080.2;SEMA3A,missense_variant,p.Asp302His,ENST00000436949,;	G	ENST00000265362	Transcript	missense_variant	1219/8225	904/2316	302/771	D/H	Gac/Cac		1		-1	SEMA3A	HGNC	HGNC:10723	protein_coding	YES	CCDS5599.1	ENSP00000265362	Q14563		UPI0000135A60	NM_006080.2	deleterious(0)		8/17		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF23,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	84011204	84011204	C	G	1	0	0	0	0	1	0	0	0	14300	826	29	4		4	SEMA3A	7	84011204	Missense_Mutation	SNP	C	11LU022_TP	1058229	84011204	75334769	425	1097											
DLX6	0	.	GRCh38	chr7	97006408	97006409	+	Frame_Shift_Del	DEL	AC	AC	-																															cgcccagacgcgaggggacgAcacaggtgagaggccgctgg																								novel		11LU022_TP	11LU022_NB	AC	AC																c.434_435delCA	p.Thr145ArgfsTer9	p.T145Rfs*9	ENST00000518156	1/3	21	15	6	42	42	0	sindel-varindel-pindel	DLX6,frameshift_variant,p.Thr145ArgfsTer9,ENST00000518156,NM_005222.3;DLX6,upstream_gene_variant,,ENST00000555308,;DLX6-AS1,intron_variant,,ENST00000430027,;DLX6-AS1,intron_variant,,ENST00000605417,;DLX6-AS1,intron_variant,,ENST00000437331,;DLX6-AS1,intron_variant,,ENST00000452769,;DLX6-AS1,intron_variant,,ENST00000458352,;DLX6-AS1,intron_variant,,ENST00000430404,;DLX6-AS1,intron_variant,,ENST00000437541,;DLX6-AS1,upstream_gene_variant,,ENST00000431497,;DLX6,upstream_gene_variant,,ENST00000493273,;	-	ENST00000518156	Transcript	frameshift_variant	861-862/2304	431-432/882	144/293	D/X	gAC/g		1		1	DLX6	HGNC	HGNC:2919	protein_coding	YES	CCDS47647.2	ENSP00000428480	P56179		UPI0000EE57E0	NM_005222.3			1/3		hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF26																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	3	97006408	97006408	AC	-	1	0	1	0	1	0	0	0	0	4382	289	10	0		0	DLX6	7	97006408	Frame_Shift_Del	DEL	AC	11LU022_TP	12995204	97006408	62339565	426	1098											
CYP3A5	0	.	GRCh38	chr7	99679853	99679853	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaccaggctgacagccAggagaagccaggtttccacc	11	4	13	13	0	0	2	0	1	0	1	1	4	1	3	5	4	3	3	5	4	1	1	novel		11LU022_TP	11LU022_NB	A	A																c.44T>G	p.Leu15Arg	p.L15R	ENST00000222982	1/13	288	223	65	279	279	0	strelka-varscan	CYP3A5,missense_variant,p.Leu15Arg,ENST00000339843,;CYP3A5,missense_variant,p.Leu15Arg,ENST00000222982,NM_000777.4,NM_001291829.1,NM_001291830.1;CYP3A5,missense_variant,p.Leu15Arg,ENST00000439761,NM_001190484.2;CYP3A5,non_coding_transcript_exon_variant,,ENST00000480723,;CYP3A5,missense_variant,p.Leu15Arg,ENST00000456417,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000481825,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463364,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463907,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000466061,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000489231,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469622,;CYP3A5,upstream_gene_variant,,ENST00000469887,;	C	ENST00000222982	Transcript	missense_variant	144/1720	44/1509	15/502	L/R	cTg/cGg		1		-1	CYP3A5	HGNC	HGNC:2638	protein_coding	YES	CCDS5672.1	ENSP00000222982	P20815		UPI000000163D	NM_000777.4,NM_001291829.1,NM_001291830.1	deleterious(0)		1/13		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24302:SF11,hmmpanther:PTHR24302,Prints_domain:PR01689																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	99679853	99679853	A	C	1	0	0	0	0	1	0	0	0	3983	188	7	5		5	CYP3A5	7	99679853	Missense_Mutation	SNP	A	11LU022_TP	2673445	99679853	59666120	427	1099											
ZAN	0	.	GRCh38	chr7	100753229	100753229	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacctccagatccagtacaGgtatgaggtggatggagcgt	11	8	13	9	1	0	2	0	1	0	1	2	4	2	4	3	4	3	2	3	4	3	2	novel		11LU022_TP	11LU022_NB	G	G																c.3124G>T	p.Glu1042Ter	p.E1042*	ENST00000613979	14/48	59	47	12	74	74	0	strelka-varscan	ZAN,stop_gained,p.Glu1042Ter,ENST00000613979,NM_003386.2;ZAN,stop_gained,p.Glu1042Ter,ENST00000618565,;ZAN,stop_gained,p.Glu1042Ter,ENST00000620596,NM_173059.2;ZAN,stop_gained,p.Glu1042Ter,ENST00000546292,;ZAN,stop_gained,p.Glu1042Ter,ENST00000542585,;ZAN,stop_gained,p.Glu1042Ter,ENST00000538115,;ZAN,stop_gained,p.Glu1042Ter,ENST00000546213,;ZAN,splice_region_variant,,ENST00000620868,;	T	ENST00000613979	Transcript	stop_gained,splice_region_variant	3289/8669	3124/8439	1042/2812	E/*	Gag/Tag		1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.2			14/48		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF221																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	3	100753229	100753229	G	T	1	0	0	0	0	0	1	0	0	18074	1014	35	2		2	ZAN	7	100753229	Nonsense_Mutation	SNP	G	11LU022_TP	1073376	100753229	58592744	428	1100											
MUC12	0	.	GRCh38	chr7	101002741	101002741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcagcactggctcgctaCacacaacactgacccctgcc	11	5	7	18	1	0	1	0	1	0	0	1	1	0	1	3	1	5	4	3	1	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.12178C>G	p.His4060Asp	p.H4060D	ENST00000536621	2/12	648	528	120	835	835	0	strelka-varscan	MUC12,missense_variant,p.His4203Asp,ENST00000379442,;MUC12,missense_variant,p.His4060Asp,ENST00000536621,NM_001164462.1;	G	ENST00000536621	Transcript	missense_variant	12178/16321	12178/16008	4060/5335	H/D	Cac/Gac		1		1	MUC12	HGNC	HGNC:7510	protein_coding	YES	CCDS55139.1	ENSP00000441929	Q9UKN1		UPI0001B25898	NM_001164462.1	tolerated(0.31)		2/12		hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF39,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	3	101002741	101002741	C	G	1	0	0	0	0	1	0	0	0	9969	478	17	4		4	MUC12	7	101002741	Missense_Mutation	SNP	C	11LU022_TP	249512	101002741	58343232	429	1101											
MUC17	0	.	GRCh38	chr7	101032951	101032951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctagtgaaggaagcactcCattaacaagtatgtctgtca	13	11	8	9	0	2	1	1	1	1	0	4	2	4	2	2	1	2	2	2	1	6	3	novel		11LU022_TP	11LU022_NB	C	C																c.1535C>A	p.Pro512Gln	p.P512Q	ENST00000306151	3/13	221	185	36	232	232	0	strelka-varscan	MUC17,missense_variant,p.Pro512Gln,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Pro512Gln,ENST00000379439,;	A	ENST00000306151	Transcript	missense_variant	1599/14247	1535/13482	512/4493	P/Q	cCa/cAa		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	deleterious(0)		3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	101032951	101032951	C	A	1	0	0	0	0	1	0	0	0	9973	594	21	2		2	MUC17	7	101032951	Missense_Mutation	SNP	C	11LU022_TP	30210	101032951	58313022	430	1102											
MUC17	0	.	GRCh38	chr7	101038509	101038509	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctacaactcctgctgacAccagcacacctgtgactact	10	11	5	15	0	1	2	0	2	1	0	2	2	2	2	3	0	5	2	3	0	3	3	novel		11LU022_TP	11LU022_NB	A	A																c.7093A>C	p.Thr2365Pro	p.T2365P	ENST00000306151	3/13	92	68	24	110	110	0	strelka-varscan	MUC17,missense_variant,p.Thr2365Pro,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr2365Pro,ENST00000379439,;	C	ENST00000306151	Transcript	missense_variant	7157/14247	7093/13482	2365/4493	T/P	Acc/Ccc		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	deleterious(0)		3/13		Low_complexity_(Seg):seg,hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	101038509	101038509	A	C	1	0	0	0	0	1	0	0	0	9973	159	6	5		5	MUC17	7	101038509	Missense_Mutation	SNP	A	11LU022_TP	5558	101038509	58307464	431	1103											
PIK3CG	0	.	GRCh38	chr7	106869019	106869019	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacgtcctccacatgtggcaGatatctgggaagggagaaga	12	8	13	8	1	1	3	0	0	1	3	3	5	3	4	2	3	1	1	2	3	4	2	novel		11LU022_TP	11LU022_NB	G	G																c.1458G>C	p.Gln486His	p.Q486H	ENST00000359195	2/11	181	143	38	175	175	0	strelka-varscan	PIK3CG,missense_variant,p.Gln486His,ENST00000359195,NM_002649.3;PIK3CG,missense_variant,p.Gln486His,ENST00000496166,NM_001282426.1;PIK3CG,missense_variant,p.Gln486His,ENST00000440650,NM_001282427.1;PIK3CG,intron_variant,,ENST00000473541,;	C	ENST00000359195	Transcript	missense_variant	1768/5377	1458/3309	486/1102	Q/H	caG/caC		1		1	PIK3CG	HGNC	HGNC:8978	protein_coding	YES	CCDS5739.1	ENSP00000352121	P48736	A0A024R720	UPI00000746B8	NM_002649.3	deleterious(0.01)		2/11		PROSITE_profiles:PS51547,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,Pfam_domain:PF00792,Gene3D:2.60.40.150,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	106869019	106869019	G	C	1	0	0	0	0	1	0	0	0	12011	933	33	4		4	PIK3CG	7	106869019	Missense_Mutation	SNP	G	11LU022_TP	5830510	106869019	52476954	432	1104											
NRCAM	0	.	GRCh38	chr7	108189669	108189669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggggctattgttgtcatCgcctggggtccatgacagct	7	12	13	9	1	1	1	1	1	0	0	3	1	2	1	2	4	1	3	2	4	2	3	rs140011491		11LU022_TP	11LU022_NB	C	C																c.2011G>T	p.Asp671Tyr	p.D671Y	ENST00000379028	20/33	214	171	43	169	169	0	strelka-varscan	NRCAM,missense_variant,p.Asp671Tyr,ENST00000379028,;NRCAM,missense_variant,p.Asp671Tyr,ENST00000413765,NM_001193582.1;NRCAM,missense_variant,p.Asp655Tyr,ENST00000351718,NM_005010.4;NRCAM,missense_variant,p.Asp652Tyr,ENST00000379024,NM_001193583.1,NM_001193584.1;NRCAM,missense_variant,p.Asp671Tyr,ENST00000425651,NM_001037132.2;NRCAM,missense_variant,p.Asp666Tyr,ENST00000379022,;NRCAM,missense_variant,p.Asp655Tyr,ENST00000613830,;	A	ENST00000379028	Transcript	missense_variant	2497/6685	2011/3915	671/1304	D/Y	Gat/Tat	rs140011491	1		-1	NRCAM	HGNC	HGNC:7994	protein_coding	YES	CCDS47686.1	ENSP00000368314	Q92823		UPI00005E2661		deleterious(0.01)		20/33		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	108189669	108189669	C	A	1	0	0	0	0	1	0	0	0	10700	884	31	1		1	NRCAM	7	108189669	Missense_Mutation	SNP	C	11LU022_TP	1320650	108189669	51156304	433	1105											
PNPLA8	0	.	GRCh38	chr7	108497495	108497495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataattacctgtgcttacacCacaaatgtaatcaaagagct	16	11	5	9	0	1	1	1	0	0	1	1	1	1	1	2	0	4	3	2	0	6	4	novel		11LU022_TP	11LU022_NB	C	C																c.1441G>T	p.Gly481Cys	p.G481C	ENST00000422087	7/12	97	77	20	143	143	0	strelka-varscan	PNPLA8,missense_variant,p.Gly481Cys,ENST00000426128,NM_001256009.1;PNPLA8,missense_variant,p.Gly481Cys,ENST00000422087,NM_015723.3;PNPLA8,missense_variant,p.Gly481Cys,ENST00000257694,NM_001256007.1;PNPLA8,missense_variant,p.Gly481Cys,ENST00000436062,NM_001256008.1;PNPLA8,missense_variant,p.Gly381Cys,ENST00000453144,NM_001256011.1,NM_001256010.1;PNPLA8,missense_variant,p.Gly381Cys,ENST00000453085,;PNPLA8,non_coding_transcript_exon_variant,,ENST00000483879,;PNPLA8,non_coding_transcript_exon_variant,,ENST00000476592,;PNPLA8,non_coding_transcript_exon_variant,,ENST00000489738,;PNPLA8,non_coding_transcript_exon_variant,,ENST00000462466,;	A	ENST00000422087	Transcript	missense_variant	1848/3530	1441/2349	481/782	G/C	Ggt/Tgt		1		-1	PNPLA8	HGNC	HGNC:28900	protein_coding	YES	CCDS34733.1	ENSP00000410804	Q9NP80	A0A024R746	UPI0000073D34	NM_015723.3	deleterious(0)		7/12		hmmpanther:PTHR24185,Gene3D:3.40.1090.10,Pfam_domain:PF01734,Superfamily_domains:SSF52151																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	108497495	108497495	C	A	1	0	0	0	0	1	0	0	0	12279	594	21	2		2	PNPLA8	7	108497495	Missense_Mutation	SNP	C	11LU022_TP	307826	108497495	50848478	434	1106											
DOCK4	0	.	GRCh38	chr7	111834687	111834687	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaagcaacaaactccccCtaagttaaaaaaaaaaaaag	24	4	4	9	0	0	1	0	0	0	1	1	1	1	1	2	0	3	2	2	0	11	2	novel		11LU022_TP	11LU022_NB	C	C																c.2737-1G>A		p.X913_splice	ENST00000437633		92	77	15	88	88	0	strelka-varscan	DOCK4,splice_acceptor_variant,,ENST00000428084,;DOCK4,splice_acceptor_variant,,ENST00000423057,;DOCK4,splice_acceptor_variant,,ENST00000437633,NM_014705.3;DOCK4,splice_acceptor_variant,,ENST00000445943,;DOCK4,splice_acceptor_variant,,ENST00000494651,;	T	ENST00000437633	Transcript	splice_acceptor_variant	-/6212	2737/5901	913/1966				1		-1	DOCK4	HGNC	HGNC:19192	protein_coding	YES	CCDS47688.1	ENSP00000404179	Q8N1I0		UPI0000D5BB0D	NM_014705.3				25/51																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	3	111834687	111834687	C	T	1	0	0	0	0	0	0	1	0	4504	695	24	3		3	DOCK4	7	111834687	Splice_Site	SNP	C	11LU022_TP	3337192	111834687	47511286	435	1107											
GPR85	0	.	GRCh38	chr7	113083801	113083801	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccctcttgcaaaaactctCcaataacaggccaccaggta	13	7	7	14	0	2	0	0	0	2	0	3	0	2	0	4	3	3	2	4	3	5	3	novel		11LU022_TP	11LU022_NB	C	C																c.921G>A	p.Trp307Ter	p.W307*	ENST00000297146	3/3	153	121	32	193	193	0	strelka-varscan	GPR85,stop_gained,p.Trp307Ter,ENST00000297146,NM_001146265.1,NM_018970.6;GPR85,stop_gained,p.Trp307Ter,ENST00000424100,NM_001146267.1;GPR85,stop_gained,p.Trp307Ter,ENST00000449591,NM_001146266.1;GPR85,downstream_gene_variant,,ENST00000438062,;GPR85,downstream_gene_variant,,ENST00000449735,;GPR85,downstream_gene_variant,,ENST00000487573,;GPR85,stop_gained,p.Trp307Ter,ENST00000610164,;	T	ENST00000297146	Transcript	stop_gained	1525/5079	921/1113	307/370	W/*	tgG/tgA		1		-1	GPR85	HGNC	HGNC:4536	protein_coding	YES	CCDS5758.1	ENSP00000297146	P60893	A4D0T8	UPI0000004048	NM_001146265.1,NM_018970.6			3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	3	113083801	113083801	C	T	1	0	0	0	0	0	1	0	0	6596	856	30	3		3	GPR85	7	113083801	Nonsense_Mutation	SNP	C	11LU022_TP	1249114	113083801	46262172	436	1108											
CTTNBP2	0	.	GRCh38	chr7	117791589	117791589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatttcctctgtcaactCgtgctacaccatgagtcttt	8	14	8	11	1	3	1	1	1	2	0	5	3	4	2	2	1	3	1	2	1	2	3	rs772434465		11LU022_TP	11LU022_NB	C	C																c.1607G>T	p.Arg536Leu	p.R536L	ENST00000160373	4/23	239	196	43	274	274	0	strelka-varscan	CTTNBP2,missense_variant,p.Arg536Leu,ENST00000160373,NM_033427.2;CTTNBP2,missense_variant,p.Arg65Leu,ENST00000446636,;CTTNBP2,downstream_gene_variant,,ENST00000434890,;CTTNBP2,downstream_gene_variant,,ENST00000454375,;CTTNBP2,downstream_gene_variant,,ENST00000487820,;CTTNBP2,missense_variant,p.Arg536Leu,ENST00000441556,;	A	ENST00000160373	Transcript	missense_variant	1699/5970	1607/4992	536/1663	R/L	cGa/cTa	rs772434465,COSM3374464	1		-1	CTTNBP2	HGNC	HGNC:15679	protein_coding	YES	CCDS5774.1	ENSP00000160373	Q8WZ74	Q20BG9	UPI000006E94A	NM_033427.2	deleterious(0)		4/23		hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF27											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	3	117791589	117791589	C	A	1	0	0	0	0	1	0	0	0	3854	884	31	1		1	CTTNBP2	7	117791589	Missense_Mutation	SNP	C	11LU022_TP	4707788	117791589	41554384	437	1109											
ING3	0	.	GRCh38	chr7	120953327	120953327	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatggatcaactagaacaaAgagtcagtgaattctttatg	16	11	8	6	0	3	3	2	1	1	2	3	4	3	4	0	1	2	0	0	1	7	4	novel		11LU022_TP	11LU022_NB	A	A																c.124A>G	p.Arg42Gly	p.R42G	ENST00000315870	3/12	135	109	26	155	155	0	strelka-varscan	ING3,missense_variant,p.Arg42Gly,ENST00000315870,NM_019071.2;ING3,missense_variant,p.Arg42Gly,ENST00000445699,;ING3,missense_variant,p.Arg27Gly,ENST00000431467,;ING3,missense_variant,p.Arg42Gly,ENST00000339121,NM_198267.1;ING3,missense_variant,p.Arg42Gly,ENST00000427726,;	G	ENST00000315870	Transcript	missense_variant	272/3777	124/1257	42/418	R/G	Aga/Gga		1		1	ING3	HGNC	HGNC:14587	protein_coding	YES	CCDS5778.1	ENSP00000320566	Q9NXR8		UPI00000373B3	NM_019071.2	deleterious(0)		3/12		hmmpanther:PTHR10333:SF65,hmmpanther:PTHR10333,Pfam_domain:PF12998,SMART_domains:SM01408																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	120953327	120953327	A	G	1	0	0	0	0	1	0	0	0	7639	64	3	5		5	ING3	7	120953327	Missense_Mutation	SNP	A	11LU022_TP	3161738	120953327	38392646	438	1110											
PTPRZ1	0	.	GRCh38	chr7	121976788	121976788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgattcttttttaacaggttGggacagaagaaaatttggat	13	15	10	3	0	1	3	0	1	1	2	1	5	1	5	0	3	1	1	0	3	4	6	novel		11LU022_TP	11LU022_NB	G	G																c.556G>T	p.Gly186Trp	p.G186W	ENST00000393386	6/30	141	118	23	112	112	0	strelka-varscan	PTPRZ1,missense_variant,p.Gly186Trp,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,missense_variant,p.Gly186Trp,ENST00000449182,NM_001206839.1;	T	ENST00000393386	Transcript	missense_variant	967/8175	556/6948	186/2315	G/W	Ggg/Tgg		1		1	PTPRZ1	HGNC	HGNC:9685	protein_coding	YES	CCDS34740.1	ENSP00000377047	P23471		UPI000020F9BB	NM_001206838.1,NM_002851.2	deleterious(0)		6/30		PROSITE_profiles:PS51144,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057,Superfamily_domains:SSF51069																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	121976788	121976788	G	T	1	0	0	0	0	1	0	0	0	12969	1362	47	2		2	PTPRZ1	7	121976788	Missense_Mutation	SNP	G	11LU022_TP	1023461	121976788	37369185	439	1111											
AASS	0	.	GRCh38	chr7	122126438	122126438	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgatccaccattttctCataatcaataaggcgaattt	13	15	4	9	1	3	1	2	1	2	0	5	2	4	1	2	1	0	0	2	1	5	6	novel		11LU022_TP	11LU022_NB	C	C																c.409G>T	p.Glu137Ter	p.E137*	ENST00000393376	3/23	376	317	59	347	347	0	strelka-varscan	AASS,stop_gained,p.Glu137Ter,ENST00000393376,;AASS,stop_gained,p.Glu137Ter,ENST00000417368,NM_005763.3;AASS,intron_variant,,ENST00000473553,;AASS,stop_gained,p.Glu137Ter,ENST00000358954,;AASS,stop_gained,p.Glu137Ter,ENST00000431170,;	A	ENST00000393376	Transcript	stop_gained	505/3233	409/2781	137/926	E/*	Gag/Tag		1		-1	AASS	HGNC	HGNC:17366	protein_coding	YES	CCDS5783.1	ENSP00000377040	Q9UDR5	A4D0W4	UPI000004A105				3/23		hmmpanther:PTHR11133:SF14,hmmpanther:PTHR11133,Gene3D:3.40.50.1770,Pfam_domain:PF05222,SMART_domains:SM01003,Superfamily_domains:SSF52283																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	3	122126438	122126438	C	A	1	0	0	0	0	0	1	0	0	28	835	29	2		2	AASS	7	122126438	Nonsense_Mutation	SNP	C	11LU022_TP	149650	122126438	37219535	440	1112											
GRM8	0	.	GRCh38	chr7	126439134	126439134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttcagattgaatgattGctgtaactgatatatgttgt	10	18	9	4	0	1	4	1	3	0	1	1	4	1	4	0	0	2	4	0	0	4	7	novel		11LU022_TP	11LU022_NB	G	G																c.2712C>A	p.Ser904Arg	p.S904R	ENST00000339582	11/11	100	82	18	128	128	0	strelka-varscan	GRM8,missense_variant,p.Ser904Arg,ENST00000339582,NM_000845.2;GRM8,missense_variant,p.Ser412Arg,ENST00000444921,;GRM8,3_prime_UTR_variant,,ENST00000358373,NM_001127323.1;GRM8,non_coding_transcript_exon_variant,,ENST00000489939,;GRM8,non_coding_transcript_exon_variant,,ENST00000495315,;GRM8,3_prime_UTR_variant,,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	T	ENST00000339582	Transcript	missense_variant	3521/4057	2712/2727	904/908	S/R	agC/agA		1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2	deleterious_low_confidence(0.01)		11/11		hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	126439134	126439134	G	T	1	0	0	0	0	1	0	0	0	6685	1310	46	2		2	GRM8	7	126439134	Missense_Mutation	SNP	G	11LU022_TP	4312696	126439134	32906839	441	1113											
PAX4	0	.	GRCh38	chr7	127611194	127611194	+	Frame_Shift_Del	DEL	G	G	-																															agtccagggaattcggctgtGggggcaagtggcctgtgggg																								rs764742580		11LU022_TP	11LU022_NB	G	G																c.902delC	p.Pro301HisfsTer105	p.P301Hfs*105	ENST00000341640	9/9	285	236	49	316	316	0	sindel-varindel-pindel	PAX4,frameshift_variant,p.Pro301HisfsTer105,ENST00000341640,NM_006193.2;PAX4,frameshift_variant,p.Pro299HisfsTer?,ENST00000463946,;PAX4,intron_variant,,ENST00000378740,;PAX4,intron_variant,,ENST00000338516,;PAX4,downstream_gene_variant,,ENST00000611453,;PAX4,intron_variant,,ENST00000483494,;PAX4,downstream_gene_variant,,ENST00000477423,;	-	ENST00000341640	Transcript	frameshift_variant	1108/2010	902/1032	301/343	P/X	cCa/ca	rs764742580,COSM5026820	1		-1	PAX4	HGNC	HGNC:8618	protein_coding	YES	CCDS5797.1	ENSP00000339906	O43316		UPI000013C824	NM_006193.2			9/9													0,1						HIGH	1	deletion	1		0,1	1										PASS		.	.												-	7	5	3	127611194	127611194	G	-	1	0	1	0	1	0	0	0	0	11566	1348	47	0		0	PAX4	7	127611194	Frame_Shift_Del	DEL	G	11LU022_TP	1172060	127611194	31734779	442	1114											
KCP	0	.	GRCh38	chr7	128877579	128877579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacagaggcaggcatcagcgGaggagccagggccacaggca	12	1	16	12	1	1	1	1	0	0	1	1	3	1	3	2	6	2	3	2	6	0	0	novel		11LU022_TP	11LU022_NB	G	G																c.4523C>T	p.Ser1508Phe	p.S1508F	ENST00000610776	39/40	473	373	100	625	624	1	strelka-varscan	KCP,missense_variant,p.Ser1508Phe,ENST00000610776,;KCP,missense_variant,p.Ser1448Phe,ENST00000613019,;KCP,missense_variant,p.Ser1384Phe,ENST00000620378,NM_001135914.1;KCP,3_prime_UTR_variant,,ENST00000611280,;KCP,intron_variant,,ENST00000492679,;KCP,intron_variant,,ENST00000460528,;	A	ENST00000610776	Transcript	missense_variant	4566/5108	4523/4887	1508/1628	S/F	tCc/tTc		1		-1	KCP	HGNC	HGNC:17585	protein_coding	YES		ENSP00000479679		A0A087WVT8	UPI0004620CE8		deleterious(0.01)		39/40		hmmpanther:PTHR11339:SF280,hmmpanther:PTHR11339,SMART_domains:SM00832																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	128877579	128877579	G	A	1	0	0	0	0	1	0	0	0	8012	1174	41	3		3	KCP	7	128877579	Missense_Mutation	SNP	G	11LU022_TP	1266385	128877579	30468394	443	1115											
CPA2	0	.	GRCh38	chr7	130276687	130276687	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctggatgccctggatatCttcctcctgccagtcacaaa	9	12	7	13	0	3	0	1	0	2	0	5	2	5	2	4	2	2	0	4	2	2	3	rs754244605		11LU022_TP	11LU022_NB	C	C																c.645C>A	p.=	p.I215I	ENST00000222481	7/11	144	113	31	158	158	0	strelka-varscan	CPA2,synonymous_variant,p.=,ENST00000222481,NM_001869.2;CPA2,3_prime_UTR_variant,,ENST00000416698,;CPA2,non_coding_transcript_exon_variant,,ENST00000487259,;CPA2,downstream_gene_variant,,ENST00000480781,;	A	ENST00000222481	Transcript	synonymous_variant	700/1366	645/1260	215/419	I	atC/atA	rs754244605	1		1	CPA2	HGNC	HGNC:2297	protein_coding	YES	CCDS5817.2	ENSP00000222481	P48052		UPI00005A7711	NM_001869.2			7/11		Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF71,SMART_domains:SM00631,Superfamily_domains:SSF53187																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	130276687	130276687	C	A	1	0	0	0	0	0	0	0	1	3584	903	32	2		2	CPA2	7	130276687	Silent	SNP	C	11LU022_TP	1399108	130276687	29069286	444	1116											
PLXNA4	0	.	GRCh38	chr7	132146543	132146543	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgggtcaggtagatttcAgacaccatcttgctcccccg	8	10	10	13	2	3	2	2	0	1	2	5	2	4	2	3	2	1	2	3	2	1	3	novel		11LU022_TP	11LU022_NB	A	A																c.5022T>A	p.=	p.S1674S	ENST00000359827	28/32	533	439	94	576	576	0	strelka-varscan	PLXNA4,synonymous_variant,p.=,ENST00000359827,;PLXNA4,synonymous_variant,p.=,ENST00000321063,NM_020911.1;PLXNA4,upstream_gene_variant,,ENST00000496550,;	T	ENST00000359827	Transcript	synonymous_variant	5985/13786	5022/5685	1674/1894	S	tcT/tcA		1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B				28/32		Pfam_domain:PF08337,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	3	132146543	132146543	A	T	1	0	0	0	0	0	0	0	1	12228	175	7	4		4	PLXNA4	7	132146543	Silent	SNP	A	11LU022_TP	1869856	132146543	27199430	445	1117											
CALD1	0	.	GRCh38	chr7	134928818	134928818	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaacggcgccgccgagccCgacaggaacggctgcggcag	8	1	18	14	7	0	0	0	0	0	0	0	4	0	2	3	5	4	2	3	5	2	0			11LU022_TP	11LU022_NB	C	C																c.136C>A	p.=	p.R46R	ENST00000361675	4/15	139	111	28	131	131	0	strelka-varscan	CALD1,synonymous_variant,p.=,ENST00000393118,NM_033139.3;CALD1,synonymous_variant,p.=,ENST00000361901,NM_004342.6;CALD1,synonymous_variant,p.=,ENST00000361675,NM_033138.3;CALD1,synonymous_variant,p.=,ENST00000422748,NM_033157.3;CALD1,synonymous_variant,p.=,ENST00000495522,;CALD1,synonymous_variant,p.=,ENST00000424922,NM_033140.3;CALD1,synonymous_variant,p.=,ENST00000417172,;CALD1,synonymous_variant,p.=,ENST00000436461,;CALD1,synonymous_variant,p.=,ENST00000454108,;CALD1,synonymous_variant,p.=,ENST00000445569,;CALD1,synonymous_variant,p.=,ENST00000435928,;CALD1,non_coding_transcript_exon_variant,,ENST00000496024,;CALD1,synonymous_variant,p.=,ENST00000443197,;CALD1,synonymous_variant,p.=,ENST00000430085,;CALD1,non_coding_transcript_exon_variant,,ENST00000482470,;	A	ENST00000361675	Transcript	synonymous_variant	365/3612	136/2382	46/793	R	Cga/Aga	COSM4465168,COSM4465169	1		1	CALD1	HGNC	HGNC:1441	protein_coding	YES	CCDS5835.1	ENSP00000354826	Q05682		UPI0000140A64	NM_033138.3			4/15		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02029,hmmpanther:PTHR18949,hmmpanther:PTHR18949:SF0,Low_complexity_(Seg):seg											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	3	134928818	134928818	C	A	1	0	0	0	0	0	0	0	1	2271	644	23	1		1	CALD1	7	134928818	Silent	SNP	C	11LU022_TP	2782275	134928818	24417155	446	1118											
HIPK2	0	.	GRCh38	chr7	139626759	139626759	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttttctaccaacatgtcgctCccttccaaatctgtcgtcat	8	15	4	14	2	3	0	1	0	2	0	7	0	5	0	3	0	2	1	3	0	3	4	novel		11LU022_TP	11LU022_NB	C	C																c.1461G>C	p.=	p.G487G	ENST00000406875	6/15	155	105	50	160	160	0	strelka-varscan	HIPK2,synonymous_variant,p.=,ENST00000406875,NM_022740.4;HIPK2,synonymous_variant,p.=,ENST00000428878,NM_001113239.2;HIPK2,synonymous_variant,p.=,ENST00000342645,;	G	ENST00000406875	Transcript	synonymous_variant	1556/15049	1461/3597	487/1198	G	ggG/ggC		1		-1	HIPK2	HGNC	HGNC:14402	protein_coding	YES	CCDS75667.1	ENSP00000385571	Q9H2X6		UPI000012C71E	NM_022740.4			6/15		PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF53,hmmpanther:PTHR24058,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	3	139626759	139626759	C	G	1	0	0	0	0	0	0	0	1	7005	842	30	4		4	HIPK2	7	139626759	Silent	SNP	C	11LU022_TP	4697941	139626759	19719214	447	1119											
PARP12	0	.	GRCh38	chr7	140026295	140026295	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggtgccgtggaacagcTgccgctcgtccacggccttc	4	8	13	16	5	0	0	0	0	0	0	3	1	1	1	4	3	4	3	4	3	1	1	novel		11LU022_TP	11LU022_NB	T	T																c.1682A>T	p.Gln561Leu	p.Q561L	ENST00000263549	11/12	255	204	51	255	255	0	strelka-varscan	PARP12,missense_variant,p.Gln561Leu,ENST00000263549,NM_022750.3;PARP12,missense_variant,p.Gln33Leu,ENST00000484111,;PARP12,synonymous_variant,p.=,ENST00000489809,;PARP12,3_prime_UTR_variant,,ENST00000473341,;PARP12,3_prime_UTR_variant,,ENST00000491598,;PARP12,non_coding_transcript_exon_variant,,ENST00000488726,;PARP12,non_coding_transcript_exon_variant,,ENST00000496624,;PARP12,non_coding_transcript_exon_variant,,ENST00000489383,;PARP12,downstream_gene_variant,,ENST00000466597,;	A	ENST00000263549	Transcript	missense_variant	2556/3796	1682/2106	561/701	Q/L	cAg/cTg		1		-1	PARP12	HGNC	HGNC:21919	protein_coding	YES	CCDS5857.1	ENSP00000263549	Q9H0J9	A4D1T0	UPI000006F644	NM_022750.3	tolerated(0.64)		11/12		Gene3D:3.90.228.10,Pfam_domain:PF00644,PROSITE_profiles:PS51059,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF15,Superfamily_domains:SSF56399																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	140026295	140026295	T	A	1	0	0	0	0	1	0	0	0	11537	1580	55	4		4	PARP12	7	140026295	Missense_Mutation	SNP	T	11LU022_TP	399536	140026295	19319678	448	1120											
MGAM	0	.	GRCh38	chr7	142034280	142034280	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatcctggatgggtaccTgttctgcaagactctctgta	9	12	11	9	0	2	1	0	0	2	1	4	3	3	3	2	3	2	4	2	3	4	3	novel		11LU022_TP	11LU022_NB	T	T																c.1688T>A	p.Leu563Gln	p.L563Q	ENST00000549489	15/48	173	138	35	162	162	0	strelka-varscan	MGAM,missense_variant,p.Leu563Gln,ENST00000475668,;MGAM,missense_variant,p.Leu563Gln,ENST00000549489,NM_004668.2;MGAM,missense_variant,p.Leu563Gln,ENST00000620571,;MGAM,downstream_gene_variant,,ENST00000495045,;MGAM,upstream_gene_variant,,ENST00000490593,;	A	ENST00000549489	Transcript	missense_variant	1783/6525	1688/5574	563/1857	L/Q	cTg/cAg		1		1	MGAM	HGNC	HGNC:7043	protein_coding	YES	CCDS47727.1	ENSP00000447378	O43451		UPI000183CB7B	NM_004668.2	deleterious(0)		15/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF63,Pfam_domain:PF01055																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	142034280	142034280	T	A	1	0	0	0	0	1	0	0	0	9499	1580	55	4		4	MGAM	7	142034280	Missense_Mutation	SNP	T	11LU022_TP	2007985	142034280	17311693	449	1121											
MGAM	0	.	GRCh38	chr7	142034731	142034731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacccgttctacctttgcgGgctctggcaagtttgcagca	6	12	11	12	2	2	1	0	1	2	0	2	1	2	1	2	2	4	6	2	2	2	4			11LU022_TP	11LU022_NB	G	G																c.1849G>T	p.Gly617Cys	p.G617C	ENST00000549489	16/48	129	115	14	120	119	1	strelka-varscan	MGAM,missense_variant,p.Gly617Cys,ENST00000475668,;MGAM,missense_variant,p.Gly617Cys,ENST00000549489,NM_004668.2;MGAM,missense_variant,p.Gly617Cys,ENST00000620571,;MGAM,downstream_gene_variant,,ENST00000495045,;MGAM,upstream_gene_variant,,ENST00000490593,;	T	ENST00000549489	Transcript	missense_variant	1944/6525	1849/5574	617/1857	G/C	Ggc/Tgc	COSM321674,COSM321675	1		1	MGAM	HGNC	HGNC:7043	protein_coding	YES	CCDS47727.1	ENSP00000447378	O43451		UPI000183CB7B	NM_004668.2	deleterious(0)		16/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF63,Pfam_domain:PF01055,Superfamily_domains:SSF51445											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	3	142034731	142034731	G	T	1	0	0	0	0	1	0	0	0	9499	1232	43	2		2	MGAM	7	142034731	Missense_Mutation	SNP	G	11LU022_TP	451	142034731	17311242	450	1122											
MGAM2	0	.	GRCh38	chr7	142170085	142170085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttgccagatctatgaccCcactaataaaaggtatgagg	13	11	8	9	0	2	3	0	2	2	1	2	3	2	3	3	2	1	1	3	2	5	6	novel		11LU022_TP	11LU022_NB	C	C																c.3038C>T	p.Pro1013Leu	p.P1013L	ENST00000477922	27/48	75	53	22	84	84	0	strelka-varscan	MGAM2,missense_variant,p.Pro1013Leu,ENST00000477922,NM_001293626.1;MGAM2,upstream_gene_variant,,ENST00000496337,;	T	ENST00000477922	Transcript	missense_variant	3092/7867	3038/7548	1013/2515	P/L	cCc/cTc		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	deleterious(0.01)		27/48		Pfam_domain:PF16863,Superfamily_domains:SSF74650																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	142170085	142170085	C	T	1	0	0	0	0	1	0	0	0	9500	623	22	3		3	MGAM2	7	142170085	Missense_Mutation	SNP	C	11LU022_TP	135354	142170085	17175888	451	1123											
MGAM2	0	.	GRCh38	chr7	142198652	142198652	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggtcagaggaaaatccTgaaggctccccttgaccaca	14	6	9	12	0	1	3	1	2	0	1	3	4	3	4	4	3	1	1	4	3	4	1	novel		11LU022_TP	11LU022_NB	T	T																c.4961T>A	p.Leu1654Gln	p.L1654Q	ENST00000477922	44/48	188	141	47	197	197	0	strelka-varscan	MGAM2,missense_variant,p.Leu1654Gln,ENST00000477922,NM_001293626.1;MGAM2,non_coding_transcript_exon_variant,,ENST00000496337,;	A	ENST00000477922	Transcript	missense_variant	5015/7867	4961/7548	1654/2515	L/Q	cTg/cAg		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	deleterious(0)		44/48		Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF55,Superfamily_domains:SSF51011																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	142198652	142198652	T	A	1	0	0	0	0	1	0	0	0	9500	1580	55	4		4	MGAM2	7	142198652	Missense_Mutation	SNP	T	11LU022_TP	28567	142198652	17147321	452	1124											
EPHB6	0	.	GRCh38	chr7	142864043	142864043	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatgtggcaggggccccTccaggcaccgggcaggacaa	8	5	15	13	1	1	0	1	0	0	0	2	1	2	1	4	6	0	3	4	6	1	0	novel		11LU022_TP	11LU022_NB	T	T																c.243T>A	p.=	p.P81P	ENST00000619012	7/20	302	246	56	395	395	0	strelka-varscan	EPHB6,synonymous_variant,p.=,ENST00000619012,;EPHB6,synonymous_variant,p.=,ENST00000422643,NM_004445.5;EPHB6,5_prime_UTR_variant,,ENST00000411471,NM_001280794.2,NM_001280795.2;EPHB6,downstream_gene_variant,,ENST00000497095,;EPHB6,synonymous_variant,p.=,ENST00000611578,;EPHB6,3_prime_UTR_variant,,ENST00000614832,;EPHB6,non_coding_transcript_exon_variant,,ENST00000616380,;EPHB6,upstream_gene_variant,,ENST00000486511,;	A	ENST00000619012	Transcript	synonymous_variant	995/4011	243/3069	81/1022	P	ccT/ccA		1		1	EPHB6	HGNC	HGNC:3396	protein_coding	YES	CCDS5873.2	ENSP00000481994		F8WCM8	UPI0003EAF8C7				7/20		PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF326,hmmpanther:PTHR24416,Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,SMART_domains:SM00615,Superfamily_domains:SSF49785																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	142864043	142864043	T	A	1	0	0	0	0	0	0	0	1	5025	1538	54	4		4	EPHB6	7	142864043	Silent	SNP	T	11LU022_TP	665391	142864043	16481930	453	1125											
TRPV6	0	.	GRCh38	chr7	142885556	142885556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgggggcctgaggccgaggCcagaccctgacgggactcag	7	5	17	12	2	1	3	1	2	0	1	1	5	1	4	4	5	0	0	4	5	0	1	novel		11LU022_TP	11LU022_NB	C	C																c.81G>T	p.Trp27Cys	p.W27C	ENST00000359396	1/15	45	32	13	38	38	0	strelka-varscan	TRPV6,missense_variant,p.Trp27Cys,ENST00000359396,NM_018646.5;TRPV6,intron_variant,,ENST00000436401,;RP11-114L10.2,intron_variant,,ENST00000438839,;TRPV6,upstream_gene_variant,,ENST00000615386,;	A	ENST00000359396	Transcript	missense_variant	207/2928	81/2298	27/765	W/C	tgG/tgT		1		-1	TRPV6	HGNC	HGNC:14006	protein_coding	YES		ENSP00000352358	Q9H1D0		UPI00064546CC	NM_018646.5	deleterious_low_confidence(0.03)		1/15																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	142885556	142885556	C	A	1	0	0	0	0	1	0	0	0	17106	740	26	2		2	TRPV6	7	142885556	Missense_Mutation	SNP	C	11LU022_TP	21513	142885556	16460417	454	1126											
TRPV5	0	.	GRCh38	chr7	142928155	142928155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccaggagtcgatctccGtgaggtcgtagagaatggag	9	8	14	10	3	1	2	0	1	1	1	5	6	2	4	3	3	0	1	3	3	2	1	novel		11LU022_TP	11LU022_NB	G	G																c.842C>A	p.Thr281Lys	p.T281K	ENST00000265310	7/15	226	184	42	220	220	0	strelka-varscan	TRPV5,missense_variant,p.Thr281Lys,ENST00000265310,NM_019841.6;TRPV5,missense_variant,p.Thr281Lys,ENST00000442623,;TRPV5,intron_variant,,ENST00000439304,;	T	ENST00000265310	Transcript	missense_variant	1191/2952	842/2190	281/729	T/K	aCg/aAg		1		-1	TRPV5	HGNC	HGNC:3145	protein_coding	YES	CCDS5875.1	ENSP00000265310		A0A0A6YY98	UPI0004620D64	NM_019841.6	deleterious(0)		7/15		hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF11,TIGRFAM_domain:TIGR00870																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	142928155	142928155	G	T	1	0	0	0	0	1	0	0	0	17105	1145	40	1		1	TRPV5	7	142928155	Missense_Mutation	SNP	G	11LU022_TP	42599	142928155	16417818	455	1127											
TAS2R39	0	.	GRCh38	chr7	143184106	143184106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcatcctgacagccaccCtgctgatcctctctctcaag	7	12	6	16	0	3	2	2	2	2	0	7	2	5	2	4	0	2	2	4	0	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.688C>A	p.Leu230Met	p.L230M	ENST00000446620	1/1	219	165	54	195	194	1	strelka-varscan	TAS2R39,missense_variant,p.Leu230Met,ENST00000446620,NM_176881.2;	A	ENST00000446620	Transcript	missense_variant	688/1017	688/1017	230/338	L/M	Ctg/Atg		1		1	TAS2R39	HGNC	HGNC:18886	protein_coding	YES	CCDS47729.1	ENSP00000405095	P59534		UPI00000620BE	NM_176881.2	deleterious(0)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF67,hmmpanther:PTHR11394,Pfam_domain:PF05296,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	3	143184106	143184106	C	A	1	0	0	0	0	1	0	0	0	15975	680	24	2		2	TAS2R39	7	143184106	Missense_Mutation	SNP	C	11LU022_TP	255951	143184106	16161867	456	1128											
FAM131B	0	.	GRCh38	chr7	143358890	143358890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggcatccgtatccctgcGcacggactcatggctgtgtt	6	11	12	12	3	1	0	1	0	0	0	3	1	3	1	2	3	1	6	2	3	2	3	rs148056886		11LU022_TP	11LU022_NB	G	G																c.403C>A	p.Arg135Ser	p.R135S	ENST00000443739	5/7	298	267	31	414	413	1	strelka-varscan	FAM131B,missense_variant,p.Arg107Ser,ENST00000409408,;FAM131B,missense_variant,p.Arg135Ser,ENST00000443739,NM_001031690.2,NM_001278297.1;FAM131B,missense_variant,p.Arg107Ser,ENST00000409346,;FAM131B,missense_variant,p.Arg123Ser,ENST00000409578,;FAM131B,missense_variant,p.Arg107Ser,ENST00000409222,NM_014690.4;FAM131B,3_prime_UTR_variant,,ENST00000410085,;FAM131B,3_prime_UTR_variant,,ENST00000521347,;FAM131B,3_prime_UTR_variant,,ENST00000519279,;FAM131B,non_coding_transcript_exon_variant,,ENST00000519161,;	T	ENST00000443739	Transcript	missense_variant	552/4382	403/1083	135/360	R/S	Cgc/Agc	rs148056886	1		-1	FAM131B	HGNC	HGNC:22202	protein_coding	YES	CCDS47734.1	ENSP00000410603	Q86XD5		UPI0001633639	NM_001031690.2,NM_001278297.1	tolerated(0.13)		5/7		hmmpanther:PTHR15736,hmmpanther:PTHR15736:SF9,Pfam_domain:PF15010																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	143358890	143358890	G	T	1	0	0	0	0	1	0	0	0	5290	1087	38	1		1	FAM131B	7	143358890	Missense_Mutation	SNP	G	11LU022_TP	174784	143358890	15987083	457	1129											
NOBOX	0	.	GRCh38	chr7	144410200	144410200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggtaccctccaggtctgGtgatgttagtgtcaaaagga	10	10	12	9	0	2	1	1	1	1	0	3	2	3	2	3	4	1	2	3	4	4	2	novel		11LU022_TP	11LU022_NB	G	G																c.28C>A	p.Pro10Thr	p.P10T	ENST00000467773	1/10	153	118	35	165	165	0	strelka-varscan	NOBOX,missense_variant,p.Pro10Thr,ENST00000467773,NM_001080413.3;NOBOX,missense_variant,p.Pro10Thr,ENST00000483238,;	T	ENST00000467773	Transcript	missense_variant	28/2076	28/2076	10/691	P/T	Cca/Aca		1		-1	NOBOX	HGNC	HGNC:22448	protein_coding	YES		ENSP00000419457	O60393		UPI00019B220B	NM_001080413.3	tolerated_low_confidence(0.28)		1/10																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	144410200	144410200	G	T	1	0	0	0	0	1	0	0	0	10554	1261	44	2		2	NOBOX	7	144410200	Missense_Mutation	SNP	G	11LU022_TP	1051310	144410200	14935773	458	1130											
GIMAP8	0	.	GRCh38	chr7	150474236	150474236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagtttcgatcattgatGctccggacatctcatcttta	11	14	7	9	2	3	2	2	1	2	1	6	4	4	3	1	1	1	2	1	1	2	4			11LU022_TP	11LU022_NB	G	G																c.907G>A	p.Ala303Thr	p.A303T	ENST00000307271	4/5	263	211	52	250	250	0	strelka-varscan	GIMAP8,missense_variant,p.Ala303Thr,ENST00000307271,NM_175571.3;	A	ENST00000307271	Transcript	missense_variant	1481/4184	907/1998	303/665	A/T	Gct/Act	COSM1285157	1		1	GIMAP8	HGNC	HGNC:21792	protein_coding	YES	CCDS34777.1	ENSP00000305107	Q8ND71	A0A090N8H2	UPI0000168646	NM_175571.3	tolerated(1)		4/5		PROSITE_profiles:PS51720,Gene3D:3.40.50.300,Pfam_domain:PF04548,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	3	150474236	150474236	G	A	1	0	0	0	0	1	0	0	0	6265	1319	46	3		3	GIMAP8	7	150474236	Missense_Mutation	SNP	G	11LU022_TP	6064036	150474236	8871737	459	1131											
HTR5A	0	.	GRCh38	chr7	155071408	155071408	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctgggcactctccgCtgtcatctctctggccccgc	3	10	9	19	2	5	0	2	0	3	0	7	0	5	0	4	2	0	3	4	2	0	0	rs185184389		11LU022_TP	11LU022_NB	C	C																c.509C>A	p.Ala170Asp	p.A170D	ENST00000287907	1/2	386	291	95	417	417	0	strelka-varscan	HTR5A,missense_variant,p.Ala170Asp,ENST00000287907,NM_024012.3;HTR5A-AS1,non_coding_transcript_exon_variant,,ENST00000395731,;HTR5A-AS1,non_coding_transcript_exon_variant,,ENST00000493904,;RP11-5C23.4,upstream_gene_variant,,ENST00000637588,;	A	ENST00000287907	Transcript	missense_variant	1085/2912	509/1074	170/357	A/D	gCt/gAt	rs185184389	1		1	HTR5A	HGNC	HGNC:5300	protein_coding	YES	CCDS5936.1	ENSP00000287907	P47898	A4D2N2	UPI000004477E	NM_024012.3	deleterious(0.04)		1/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF108,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	155071408	155071408	C	A	1	0	0	0	0	1	0	0	0	7346	797	28	2		2	HTR5A	7	155071408	Missense_Mutation	SNP	C	11LU022_TP	4597172	155071408	4274565	460	1132											
HTR5A	0	.	GRCh38	chr7	155084240	155084240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagaaggggacacgtggcGggagcagaaggagcagcggg	11	1	21	8	3	0	2	0	0	0	2	0	5	0	5	1	6	3	2	1	6	2	0	rs770383539		11LU022_TP	11LU022_NB	G	G																c.827G>T	p.Arg276Leu	p.R276L	ENST00000287907	2/2	223	179	44	217	217	0	strelka-varscan	HTR5A,missense_variant,p.Arg276Leu,ENST00000287907,NM_024012.3;HTR5A,non_coding_transcript_exon_variant,,ENST00000486819,;	T	ENST00000287907	Transcript	missense_variant	1403/2912	827/1074	276/357	R/L	cGg/cTg	rs770383539,COSM1087806	1		1	HTR5A	HGNC	HGNC:5300	protein_coding	YES	CCDS5936.1	ENSP00000287907	P47898	A4D2N2	UPI000004477E	NM_024012.3	deleterious(0.03)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF108											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	3	155084240	155084240	G	T	1	0	0	0	0	1	0	0	0	7346	1116	39	1		1	HTR5A	7	155084240	Missense_Mutation	SNP	G	11LU022_TP	12832	155084240	4261733	461	1133											
DLGAP2	0	.	GRCh38	chr8	1697208	1697208	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctactgggacatgctgcAgctctccattgaggacgtca	8	9	12	12	2	2	1	1	1	1	0	3	3	2	3	1	3	4	4	1	3	1	2	novel		11LU022_TP	11LU022_NB	A	A																c.2576A>C	p.Gln859Pro	p.Q859P	ENST00000612087	10/11	130	92	38	95	95	0	strelka-varscan-mutect	DLGAP2,missense_variant,p.Gln859Pro,ENST00000612087,NM_001277161.1;DLGAP2,missense_variant,p.Gln876Pro,ENST00000520901,;DLGAP2,missense_variant,p.Gln953Pro,ENST00000637795,;DLGAP2,missense_variant,p.Gln952Pro,ENST00000421627,;DLGAP2,missense_variant,p.Gln873Pro,ENST00000637152,NM_004745.4;	C	ENST00000612087	Transcript	missense_variant	2710/10088	2576/2886	859/961	Q/P	cAg/cCg		1		1	DLGAP2	HGNC	HGNC:2906	protein_coding	YES	CCDS75689.1	ENSP00000484215		H0YBY6	UPI0002B8CE71	NM_001277161.1	deleterious(0)		10/11		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3,Pfam_domain:PF03359																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	3	1697208	1697208	A	C	1	0	0	0	0	1	0	0	0	4367	188	7	5		5	DLGAP2	8	1697208	Missense_Mutation	SNP	A	11LU022_TP		1697208	143441428	462	1134											
CSMD1	0	.	GRCh38	chr8	2973246	2973246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttaaagtcatcaccaaGccgagacccatgtgctgggg	10	9	11	11	1	3	1	2	0	1	1	3	2	3	1	3	2	2	1	3	2	3	1	novel		11LU022_TP	11LU022_NB	G	G																c.8797C>A	p.Leu2933Ile	p.L2933I	ENST00000520002	58/71	220	200	20	189	189	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Leu2794Ile,ENST00000537824,;CSMD1,missense_variant,p.Leu2350Ile,ENST00000335551,;CSMD1,missense_variant,p.Leu2933Ile,ENST00000520002,;CSMD1,missense_variant,p.Leu2933Ile,ENST00000602557,;CSMD1,missense_variant,p.Leu2932Ile,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Leu2875Ile,ENST00000400186,;CSMD1,missense_variant,p.Leu2875Ile,ENST00000602723,;	T	ENST00000520002	Transcript	missense_variant	9353/11740	8797/10698	2933/3565	L/I	Ctt/Att		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		tolerated(0.24)		58/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	2973246	2973246	G	T	1	0	0	0	0	1	0	0	0	3745	971	34	2		2	CSMD1	8	2973246	Missense_Mutation	SNP	G	11LU022_TP	1276038	2973246	142165390	463	1135											
CSMD1	0	.	GRCh38	chr8	3000120	3000120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatcgggtctggggaacCgcagtggccagctaaaaatg	12	6	13	10	2	1	0	0	0	1	0	2	1	1	1	2	4	2	2	2	4	5	1	rs757892398		11LU022_TP	11LU022_NB	C	C																c.8044G>T	p.Gly2682Cys	p.G2682C	ENST00000520002	54/71	106	61	45	87	87	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Gly2543Cys,ENST00000537824,;CSMD1,missense_variant,p.Gly2099Cys,ENST00000335551,;CSMD1,missense_variant,p.Gly2682Cys,ENST00000520002,;CSMD1,missense_variant,p.Gly2682Cys,ENST00000602557,;CSMD1,missense_variant,p.Gly2681Cys,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Gly2624Cys,ENST00000400186,;CSMD1,missense_variant,p.Gly2624Cys,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000519623,;	A	ENST00000520002	Transcript	missense_variant	8600/11740	8044/10698	2682/3565	G/C	Ggt/Tgt	rs757892398,COSM211431,COSM211432	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0)		54/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs757892398	.												A	3	1	3	3000120	3000120	C	A	1	0	0	0	0	1	0	0	0	3745	652	23	1		1	CSMD1	8	3000120	Missense_Mutation	SNP	C	11LU022_TP	26874	3000120	142138516	464	1136											
CSMD1	0	.	GRCh38	chr8	3359271	3359271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtcagagagtctcccacaCcaaagtgaaaaccaattctt	15	8	6	12	1	3	2	1	1	2	1	4	3	3	2	3	0	1	0	3	0	4	2	novel		11LU022_TP	11LU022_NB	C	C																c.3188G>T	p.Gly1063Val	p.G1063V	ENST00000520002	22/71	182	155	27	170	170	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Gly924Val,ENST00000537824,;CSMD1,missense_variant,p.Gly543Val,ENST00000335551,;CSMD1,missense_variant,p.Gly1063Val,ENST00000520002,;CSMD1,missense_variant,p.Gly1063Val,ENST00000602557,;CSMD1,missense_variant,p.Gly1062Val,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Gly1063Val,ENST00000400186,;CSMD1,missense_variant,p.Gly1063Val,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	A	ENST00000520002	Transcript	missense_variant	3744/11740	3188/10698	1063/3565	G/V	gGt/gTt		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0.01)		22/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	3359271	3359271	C	A	1	0	0	0	0	1	0	0	0	3745	507	18	2		2	CSMD1	8	3359271	Missense_Mutation	SNP	C	11LU022_TP	359151	3359271	141779365	465	1137											
PRSS55	0	.	GRCh38	chr8	10529563	10529563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtattccagaatcacagggGggatggaggcggaggtgggt	9	7	20	5	1	1	1	1	0	0	1	2	4	2	4	1	9	0	1	1	9	2	2	rs779594803		11LU022_TP	11LU022_NB	G	G																c.211G>A	p.Gly71Arg	p.G71R	ENST00000328655	2/5	341	304	37	373	371	2	strelka-varscan-mutect	PRSS55,missense_variant,p.Gly71Arg,ENST00000328655,NM_198464.3;PRSS55,missense_variant,p.Gly71Arg,ENST00000522210,NM_001197020.1;PRSS51,intron_variant,,ENST00000637190,;PRSS55,missense_variant,p.Gly52Arg,ENST00000518641,;PRSS51,intron_variant,,ENST00000523024,;	A	ENST00000328655	Transcript	missense_variant	251/1124	211/1059	71/352	G/R	Ggg/Agg	rs779594803	1		1	PRSS55	HGNC	HGNC:30824	protein_coding	YES	CCDS5976.1	ENSP00000333003	Q6UWB4		UPI0000160C84	NM_198464.3	deleterious(0.04)		2/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF191,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs779594803	.												A	3	1	3	10529563	10529563	G	A	1	0	0	0	0	1	0	0	0	12783	1232	43	3		3	PRSS55	8	10529563	Missense_Mutation	SNP	G	11LU022_TP	7170292	10529563	134609073	466	1138											
PRSS55	0	.	GRCh38	chr8	10529591	10529591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaggtgggtgagtttcCgtggcaggtgagtattcagg	6	10	20	5	2	1	2	1	2	0	0	2	3	2	3	1	7	0	3	1	7	1	3	rs550455663		11LU022_TP	11LU022_NB	C	C																c.239C>A	p.Pro80Gln	p.P80Q	ENST00000328655	2/5	316	292	24	325	325	0	strelka-varscan-mutect	PRSS55,missense_variant,p.Pro80Gln,ENST00000328655,NM_198464.3;PRSS55,missense_variant,p.Pro80Gln,ENST00000522210,NM_001197020.1;PRSS51,intron_variant,,ENST00000637190,;PRSS55,missense_variant,p.Pro61Gln,ENST00000518641,;PRSS51,intron_variant,,ENST00000523024,;	A	ENST00000328655	Transcript	missense_variant	279/1124	239/1059	80/352	P/Q	cCg/cAg	rs550455663,COSM1094442	1		1	PRSS55	HGNC	HGNC:30824	protein_coding	YES	CCDS5976.1	ENSP00000333003	Q6UWB4		UPI0000160C84	NM_198464.3	deleterious(0)		2/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF191,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs550455663	.												A	3	1	3	10529591	10529591	C	A	1	0	0	0	0	1	0	0	0	12783	652	23	1		1	PRSS55	8	10529591	Missense_Mutation	SNP	C	11LU022_TP	28	10529591	134609045	467	1139											
SLC35G5	0	.	GRCh38	chr8	11331654	11331654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actctggacactacaggaggGgaccacaggtgtctacacca	12	6	11	12	0	2	0	0	0	2	0	2	3	2	3	2	5	2	0	2	5	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.548G>A	p.Gly183Glu	p.G183E	ENST00000382435	1/1	281	255	26	322	322	0	varscan-mutect	SLC35G5,missense_variant,p.Gly183Glu,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;	A	ENST00000382435	Transcript	missense_variant	767/1321	548/1017	183/338	G/E	gGg/gAg		1		1	SLC35G5	HGNC	HGNC:15546	protein_coding	YES	CCDS5980.1	ENSP00000371872	Q96KT7		UPI0000071B8F	NM_054028.1	tolerated(0.11)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR22911:SF32,hmmpanther:PTHR22911																	MODERATE		SNV				1										PASS		.	.												A	3	1	3	11331654	11331654	G	A	1	0	0	0	0	1	0	0	0	14869	1232	43	3		3	SLC35G5	8	11331654	Missense_Mutation	SNP	G	11LU022_TP	802063	11331654	133806982	468	1140											
DMTN	0	.	GRCh38	chr8	22070185	22070185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggcctttgtctgcagagtCcgtgggaggcagccctcaga	6	9	14	12	1	2	2	1	0	1	2	3	3	3	3	3	3	2	2	3	3	0	1			11LU022_TP	11LU022_NB	C	C																c.455C>T	p.Ser152Phe	p.S152F	ENST00000523266	8/16	40	32	8	50	50	0	strelka-varscan-mutect	DMTN,missense_variant,p.Ser152Phe,ENST00000358242,;DMTN,missense_variant,p.Ser152Phe,ENST00000523266,NM_001978.3;DMTN,missense_variant,p.Ser152Phe,ENST00000519907,NM_001302816.1;DMTN,missense_variant,p.Ser152Phe,ENST00000381470,NM_001323384.1,NM_001323385.1,NM_001114137.2;DMTN,missense_variant,p.Ser152Phe,ENST00000265800,NM_001323378.1,NM_001323380.1,NM_001323381.1,NM_001114136.2,NM_001114135.3;DMTN,missense_variant,p.Ser152Phe,ENST00000517305,;DMTN,missense_variant,p.Ser152Phe,ENST00000432128,;DMTN,missense_variant,p.Ser127Phe,ENST00000443491,NM_001323387.1,NM_001114139.2;DMTN,missense_variant,p.Ser152Phe,ENST00000415253,NM_001114138.2;DMTN,missense_variant,p.Ser127Phe,ENST00000523782,;DMTN,missense_variant,p.Ser112Phe,ENST00000517600,NM_001302817.1;DMTN,missense_variant,p.Ser127Phe,ENST00000520174,;DMTN,missense_variant,p.Ser152Phe,ENST00000517418,;DMTN,missense_variant,p.Ser152Phe,ENST00000517804,;DMTN,missense_variant,p.Ser127Phe,ENST00000523300,;DMTN,missense_variant,p.Ser127Phe,ENST00000523623,;DMTN,downstream_gene_variant,,ENST00000522148,;DMTN,downstream_gene_variant,,ENST00000522340,;DMTN,downstream_gene_variant,,ENST00000519850,;DMTN,downstream_gene_variant,,ENST00000519333,;DMTN,non_coding_transcript_exon_variant,,ENST00000518816,;DMTN,downstream_gene_variant,,ENST00000520856,;DMTN,downstream_gene_variant,,ENST00000519959,;	T	ENST00000523266	Transcript	missense_variant	917/2735	455/1218	152/405	S/F	tCc/tTc	COSM4162896,COSM4162897,COSM4495530,COSM4495531	1		1	DMTN	HGNC	HGNC:3382	protein_coding	YES	CCDS6020.1	ENSP00000427866	Q08495		UPI0000129189	NM_001978.3	deleterious(0.01)		8/16		Pfam_domain:PF16182,hmmpanther:PTHR24213											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		rs1464049702	.												T	3	4	3	22070185	22070185	C	T	1	0	0	0	0	1	0	0	0	4401	869	30	3		3	DMTN	8	22070185	Missense_Mutation	SNP	C	11LU022_TP	10738531	22070185	123068451	469	1141											
HR	0	.	GRCh38	chr8	22127692	22127692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccatctctccatccctCtggtgcagtgaagggcgttc	5	11	10	15	1	2	1	0	1	2	0	7	1	5	1	3	2	1	3	3	2	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.750G>T	p.Gln250His	p.Q250H	ENST00000381418	3/19	200	153	47	339	339	0	strelka-varscan-mutect	HR,missense_variant,p.Gln250His,ENST00000381418,NM_005144.4;HR,missense_variant,p.Gln250His,ENST00000312841,NM_018411.4;HR,non_coding_transcript_exon_variant,,ENST00000519619,;HR,downstream_gene_variant,,ENST00000518377,;HR,downstream_gene_variant,,ENST00000522759,;HR,upstream_gene_variant,,ENST00000517699,;	A	ENST00000381418	Transcript	missense_variant	2231/6336	750/3570	250/1189	Q/H	caG/caT		1		-1	HR	HGNC	HGNC:5172	protein_coding	YES	CCDS6022.1	ENSP00000370826	O43593		UPI000013EB0B	NM_005144.4	tolerated(0.15)		3/19		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	22127692	22127692	C	A	1	0	0	0	0	1	0	0	0	7242	912	32	2		2	HR	8	22127692	Missense_Mutation	SNP	C	11LU022_TP	57507	22127692	123010944	470	1142											
EBF2	0	.	GRCh38	chr8	25861152	25861152	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggagctagagagggcTggaagctggctgggattcct	7	8	19	7	0	0	1	0	0	0	1	1	5	1	4	1	6	2	5	1	6	2	2	novel		11LU022_TP	11LU022_NB	T	T																c.1239A>T	p.=	p.P413P	ENST00000520164	13/16	149	133	16	173	173	0	strelka-varscan	EBF2,synonymous_variant,p.=,ENST00000520164,NM_022659.3;EBF2,synonymous_variant,p.=,ENST00000408929,;EBF2,synonymous_variant,p.=,ENST00000535548,;	A	ENST00000520164	Transcript	synonymous_variant	1777/5145	1239/1728	413/575	P	ccA/ccT		1		-1	EBF2	HGNC	HGNC:19090	protein_coding	YES	CCDS43726.1	ENSP00000430241	Q9HAK2		UPI0000DD7EC9	NM_022659.3			13/16		Low_complexity_(Seg):seg,hmmpanther:PTHR10747																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	3	25861152	25861152	T	A	1	0	0	0	0	0	0	0	1	4705	1567	55	4		4	EBF2	8	25861152	Silent	SNP	T	11LU022_TP	3733460	25861152	119277484	471	1143											
KCNU1	0	.	GRCh38	chr8	36922538	36922538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagcttggtggactggaagGgtccctccaagaaacaaatc	13	7	11	10	0	0	1	0	0	0	1	3	3	2	3	2	4	2	1	2	4	4	1	novel		11LU022_TP	11LU022_NB	G	G																c.2645G>T	p.Gly882Val	p.G882V	ENST00000399881	24/27	110	88	22	144	144	0	strelka-varscan	KCNU1,missense_variant,p.Gly882Val,ENST00000399881,NM_001031836.2;KCNU1,missense_variant,p.Gly882Val,ENST00000522372,;	T	ENST00000399881	Transcript	missense_variant	2682/3695	2645/3450	882/1149	G/V	gGg/gTg		1		1	KCNU1	HGNC	HGNC:18867	protein_coding	YES	CCDS55220.1	ENSP00000382770	A8MYU2		UPI0000F079EF	NM_001031836.2	deleterious(0.04)		24/27		hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	36922538	36922538	G	T	1	0	0	0	0	1	0	0	0	8009	1232	43	2		2	KCNU1	8	36922538	Missense_Mutation	SNP	G	11LU022_TP	11061386	36922538	108216098	472	1144											
KCNU1	0	.	GRCh38	chr8	36935556	36935556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgagttcaagctgctgcCttcagatcttgtgttttgtg	7	16	10	8	0	3	2	2	1	1	1	3	2	3	2	1	0	3	4	1	0	2	5			11LU022_TP	11LU022_NB	C	C																c.3086C>T	p.Pro1029Leu	p.P1029L	ENST00000399881	27/27	53	43	10	69	69	0	strelka-varscan	KCNU1,missense_variant,p.Pro1029Leu,ENST00000399881,NM_001031836.2;KCNU1,downstream_gene_variant,,ENST00000518904,;KCNU1,3_prime_UTR_variant,,ENST00000522372,;	T	ENST00000399881	Transcript	missense_variant	3123/3695	3086/3450	1029/1149	P/L	cCt/cTt	COSM4486655,COSM4486656	1		1	KCNU1	HGNC	HGNC:18867	protein_coding	YES	CCDS55220.1	ENSP00000382770	A8MYU2		UPI0000F079EF	NM_001031836.2	deleterious(0.04)		27/27		hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												T	3	4	3	36935556	36935556	C	T	1	0	0	0	0	1	0	0	0	8009	681	24	3		3	KCNU1	8	36935556	Missense_Mutation	SNP	C	11LU022_TP	13018	36935556	108203080	473	1145											
ADGRA2	0	.	GRCh38	chr8	37837773	37837773	+	Missense_Mutation	SNP	C	C	T																															gacagagccagtggccgtttCgctgcggcactgggctgagg																								rs575195976		11LU022_TP	11LU022_NB	C	C																c.2093C>T	p.Ser698Leu	p.S698L	ENST00000412232	14/19	141	107	34	170	170	0	strelka-varscan	ADGRA2,missense_variant,p.Ser698Leu,ENST00000412232,NM_032777.9;ADGRA2,intron_variant,,ENST00000315215,;	T	ENST00000412232	Transcript	missense_variant	2106/5651	2093/4017	698/1338	S/L	tCg/tTg	rs575195976,COSM4476753	1		1	ADGRA2	HGNC	HGNC:17849	protein_coding	YES	CCDS6097.2	ENSP00000406367	Q96PE1		UPI00004AE50D	NM_032777.9	deleterious(0.01)		14/19		hmmpanther:PTHR12011:SF33,hmmpanther:PTHR12011											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	3	37837773	37837773	C	T	1	0	0	0	0	1	0	0	0	353	893	31	1		1	ADGRA2	8	37837773	Missense_Mutation	SNP	C	11LU022_TP	902217	37837773	107300863	474	1146	28	2									
ADGRA2	0	.	GRCh38	chr8	37837780	37837780	+	Silent	SNP	G	G	T																															ccagtggccgtttcgctgcgGcactgggctgagggagccga																								novel		11LU022_TP	11LU022_NB	G	G																c.2100G>T	p.=	p.R700R	ENST00000412232	14/19	121	92	29	148	148	0	strelka-varscan	ADGRA2,synonymous_variant,p.=,ENST00000412232,NM_032777.9;ADGRA2,intron_variant,,ENST00000315215,;	T	ENST00000412232	Transcript	synonymous_variant	2113/5651	2100/4017	700/1338	R	cgG/cgT		1		1	ADGRA2	HGNC	HGNC:17849	protein_coding	YES	CCDS6097.2	ENSP00000406367	Q96PE1		UPI00004AE50D	NM_032777.9			14/19		hmmpanther:PTHR12011:SF33,hmmpanther:PTHR12011																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	37837780	37837780	G	T	1	0	0	0	0	0	0	0	1	353	1190	42	2		2	ADGRA2	8	37837780	Silent	SNP	G	11LU022_TP	7	37837780	107300856	475	1147	28	2									
RAB11FIP1	0	.	GRCh38	chr8	37870408	37870408	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taacgaacacaccagcttctCagaggacataccttcatcat	14	9	5	13	1	3	1	3	0	1	1	4	3	3	2	2	1	4	1	2	1	3	4	novel		11LU022_TP	11LU022_NB	C	C																c.1299G>A	p.=	p.L433L	ENST00000524118	3/3	108	87	21	109	109	0	strelka-varscan	RAB11FIP1,synonymous_variant,p.=,ENST00000524118,;RAB11FIP1,intron_variant,,ENST00000330843,NM_001002814.2;RAB11FIP1,intron_variant,,ENST00000287263,NM_025151.4;RAB11FIP1,intron_variant,,ENST00000522727,;RAB11FIP1,intron_variant,,ENST00000523182,;RAB11FIP1,intron_variant,,ENST00000522774,;	T	ENST00000524118	Transcript	synonymous_variant	1938/1959	1299/1320	433/439	L	ctG/ctA		1		-1	RAB11FIP1	HGNC	HGNC:30265	protein_coding			ENSP00000430680	Q6WKZ4		UPI000050AAED				3/3																			LOW		SNV	1			1										PASS		.	.												T	2	4	3	37870408	37870408	C	T	1	0	0	0	0	0	0	0	1	13051	813	29	3		3	RAB11FIP1	8	37870408	Silent	SNP	C	11LU022_TP	32628	37870408	107268228	476	1148											
OPRK1	0	.	GRCh38	chr8	53234922	53234922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtccacgctcatcatggtCaaggtgaagatgctggtgaa	10	9	13	9	2	3	3	3	2	0	1	4	3	4	3	1	4	1	2	1	4	3	0			11LU022_TP	11LU022_NB	C	C																c.447G>T	p.Leu149Phe	p.L149F	ENST00000265572	3/4	228	197	31	252	252	0	strelka-varscan	OPRK1,missense_variant,p.Leu60Phe,ENST00000612786,NM_001282904.1;OPRK1,missense_variant,p.Leu149Phe,ENST00000265572,NM_001318497.1,NM_000912.3;OPRK1,missense_variant,p.Leu135Phe,ENST00000613482,;OPRK1,missense_variant,p.Leu149Phe,ENST00000520287,;OPRK1,missense_variant,p.Leu60Phe,ENST00000524278,;RP11-162D9.3,intron_variant,,ENST00000524425,;OPRK1,3_prime_UTR_variant,,ENST00000522508,;	A	ENST00000265572	Transcript	missense_variant	745/5014	447/1143	149/380	L/F	ttG/ttT	COSM1755744	1		-1	OPRK1	HGNC	HGNC:8154	protein_coding	YES	CCDS6152.1	ENSP00000265572	P41145		UPI000011D794	NM_001318497.1,NM_000912.3	deleterious(0)		3/4		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR00384,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF1,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	3	53234922	53234922	C	A	1	0	0	0	0	1	0	0	0	10961	825	29	2		2	OPRK1	8	53234922	Missense_Mutation	SNP	C	11LU022_TP	15364514	53234922	91903714	477	1149											
XKR4	0	.	GRCh38	chr8	55524160	55524160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaatgttccccatctcCtccaaggctgcagtacaaag	10	12	7	12	0	1	1	0	1	1	0	4	1	3	1	4	1	2	4	4	1	4	4	rs745961938		11LU022_TP	11LU022_NB	C	C																c.1886C>T	p.Pro629Leu	p.P629L	ENST00000327381	3/3	141	120	21	158	158	0	strelka-varscan	XKR4,missense_variant,p.Pro629Leu,ENST00000327381,NM_052898.1;XKR4,missense_variant,p.Pro629Leu,ENST00000622811,;RP11-628E19.2,upstream_gene_variant,,ENST00000522918,;XKR4,upstream_gene_variant,,ENST00000518261,;	T	ENST00000327381	Transcript	missense_variant	1986/19880	1886/1953	629/650	P/L	cCt/cTt	rs745961938,COSM3649917	1		1	XKR4	HGNC	HGNC:29394	protein_coding	YES	CCDS34893.1	ENSP00000328326	Q5GH76		UPI000016098C	NM_052898.1	deleterious(0.01)		3/3		hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF14											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	3	55524160	55524160	C	T	1	0	0	0	0	1	0	0	0	17992	681	24	3		3	XKR4	8	55524160	Missense_Mutation	SNP	C	11LU022_TP	2289238	55524160	89614476	478	1150											
CLVS1	0	.	GRCh38	chr8	61300085	61300085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgagccaggaagtttcaCcaagcggatgcctttagact	10	9	10	12	2	1	1	1	0	0	1	2	4	2	3	4	2	3	1	4	2	3	3			11LU022_TP	11LU022_NB	C	C																c.258C>G	p.His86Gln	p.H86Q	ENST00000519846	3/7	168	149	19	201	200	1	strelka-varscan	CLVS1,missense_variant,p.His86Gln,ENST00000519846,;CLVS1,missense_variant,p.His86Gln,ENST00000325897,NM_173519.2;CLVS1,intron_variant,,ENST00000518592,;CLVS1,downstream_gene_variant,,ENST00000523868,;CLVS1,downstream_gene_variant,,ENST00000522621,;RP11-787D18.1,downstream_gene_variant,,ENST00000518064,;RP11-787D18.1,downstream_gene_variant,,ENST00000521801,;CLVS1,non_coding_transcript_exon_variant,,ENST00000521189,;	G	ENST00000519846	Transcript	missense_variant	730/3622	258/1065	86/354	H/Q	caC/caG	COSM5475190	1		1	CLVS1	HGNC	HGNC:23139	protein_coding	YES	CCDS6176.1	ENSP00000428402	Q8IUQ0		UPI000007472D		tolerated(0.12)		3/7		Gene3D:3.40.525.10,Pfam_domain:PF03765,Prints_domain:PR00180,hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF72,SMART_domains:SM01100,Superfamily_domains:SSF46938											1						MODERATE		SNV	5		1	1										PASS		.	.												G	3	3	3	61300085	61300085	C	G	1	0	0	0	0	1	0	0	0	3344	506	18	4		4	CLVS1	8	61300085	Missense_Mutation	SNP	C	11LU022_TP	5775925	61300085	83838551	479	1151											
XKR9	0	.	GRCh38	chr8	70734395	70734395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaccagttctaagagaaTgtagaatgagatatttccta	17	11	8	5	0	1	3	0	1	1	3	2	6	2	3	2	0	1	2	2	0	8	6	novel		11LU022_TP	11LU022_NB	T	T																c.1093T>C	p.Cys365Arg	p.C365R	ENST00000408926	5/5	40	32	8	83	83	0	strelka-varscan	XKR9,missense_variant,p.Cys365Arg,ENST00000408926,NM_001287258.1,NM_001011720.1,NM_001287260.1;XKR9,missense_variant,p.Cys365Arg,ENST00000520030,NM_001287259.1;XKR9,intron_variant,,ENST00000520273,;XKR9,3_prime_UTR_variant,,ENST00000520092,;	C	ENST00000408926	Transcript	missense_variant	1627/3174	1093/1122	365/373	C/R	Tgt/Cgt		1		1	XKR9	HGNC	HGNC:20937	protein_coding	YES	CCDS34905.1	ENSP00000386141	Q5GH70		UPI00004C7A9F	NM_001287258.1,NM_001011720.1,NM_001287260.1	tolerated(0.34)		5/5		hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	70734395	70734395	T	C	1	0	0	0	0	1	0	0	0	17997	1464	51	5		5	XKR9	8	70734395	Missense_Mutation	SNP	T	11LU022_TP	9434310	70734395	74404241	480	1152											
ZFHX4	0	.	GRCh38	chr8	76852635	76852635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaatagcttcaggggccaGaggaaatgctgccaaagcgt	12	6	13	10	2	1	1	1	0	0	1	1	3	1	2	3	3	4	2	3	3	4	2	novel		11LU022_TP	11LU022_NB	G	G																c.5714G>T	p.Arg1905Ile	p.R1905I	ENST00000521891	10/11	218	119	99	184	184	0	strelka-varscan	ZFHX4,missense_variant,p.Arg1905Ile,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Arg1879Ile,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;	T	ENST00000521891	Transcript	missense_variant	6162/14019	5714/10851	1905/3616	R/I	aGa/aTa		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0)		10/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	76852635	76852635	G	T	1	0	0	0	0	1	0	0	0	18213	942	33	2		2	ZFHX4	8	76852635	Missense_Mutation	SNP	G	11LU022_TP	6118240	76852635	68286001	481	1153											
ZFHX4	0	.	GRCh38	chr8	76852957	76852957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcctcctcctcccttGcctccggctcctccacagcc	3	9	4	25	1	0	0	0	0	0	0	7	0	7	0	11	1	2	1	11	1	0	1	novel		11LU022_TP	11LU022_NB	G	G																c.6036G>A	p.=	p.L2012L	ENST00000521891	10/11	149	139	10	132	132	0	strelka-varscan	ZFHX4,synonymous_variant,p.=,ENST00000521891,NM_024721.4;ZFHX4,synonymous_variant,p.=,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;	A	ENST00000521891	Transcript	synonymous_variant	6484/14019	6036/10851	2012/3616	L	ttG/ttA		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4			10/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	3	76852957	76852957	G	A	1	0	0	0	0	0	0	0	1	18213	1310	46	3		3	ZFHX4	8	76852957	Silent	SNP	G	11LU022_TP	322	76852957	68285679	482	1154											
PSKH2	0	.	GRCh38	chr8	86064504	86064504	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgctcagctcagacacgcAcgcttctctaccttccctct	7	10	6	18	3	4	1	2	0	2	1	6	2	5	1	2	0	2	4	2	0	1	3	novel		11LU022_TP	11LU022_NB	A	A																c.313T>A	p.Cys105Ser	p.C105S	ENST00000276616	2/3	498	454	44	410	410	0	strelka-varscan	PSKH2,missense_variant,p.Cys105Ser,ENST00000276616,NM_033126.1;ATP6V0D2,intron_variant,,ENST00000521564,;PSKH2,non_coding_transcript_exon_variant,,ENST00000517981,;PSKH2,non_coding_transcript_exon_variant,,ENST00000523010,;	T	ENST00000276616	Transcript	missense_variant	388/1322	313/1158	105/385	C/S	Tgc/Agc		1		-1	PSKH2	HGNC	HGNC:18997	protein_coding	YES	CCDS6240.1	ENSP00000276616	Q96QS6		UPI000006F951	NM_033126.1	tolerated(0.45)		2/3		PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF255,Pfam_domain:PF00069,Gene3D:3.30.200.20,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	86064504	86064504	A	T	1	0	0	0	0	1	0	0	0	12816	159	6	4		4	PSKH2	8	86064504	Missense_Mutation	SNP	A	11LU022_TP	9211547	86064504	59074132	483	1155											
PSKH2	0	.	GRCh38	chr8	86069451	86069451	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttacctggcaaggacccGggggtcgaacttggctcgga	7	8	15	11	3	0	0	0	0	0	0	2	3	0	2	2	6	2	3	2	6	3	3			11LU022_TP	11LU022_NB	G	G																c.172C>A	p.=	p.R58R	ENST00000276616	1/3	68	59	9	44	44	0	strelka-varscan	PSKH2,synonymous_variant,p.=,ENST00000276616,NM_033126.1;ATP6V0D2,intron_variant,,ENST00000521564,;ATP6V0D2,upstream_gene_variant,,ENST00000523635,;PSKH2,intron_variant,,ENST00000517981,;PSKH2,intron_variant,,ENST00000523010,;	T	ENST00000276616	Transcript	synonymous_variant	247/1322	172/1158	58/385	R	Cgg/Agg	COSM5512509	1		-1	PSKH2	HGNC	HGNC:18997	protein_coding	YES	CCDS6240.1	ENSP00000276616	Q96QS6		UPI000006F951	NM_033126.1			1/3		hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF255,Gene3D:3.30.200.20,Superfamily_domains:SSF56112											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	3	86069451	86069451	G	T	1	0	0	0	0	0	0	0	1	12816	1115	39	1		1	PSKH2	8	86069451	Silent	SNP	G	11LU022_TP	4947	86069451	59069185	484	1156											
WWP1	0	.	GRCh38	chr8	86425279	86425279	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttatgtggatcataatactcGaactaccacatgggagagac	14	10	9	8	1	1	1	1	0	0	1	2	5	1	3	1	2	3	0	1	2	5	4	rs267602027		11LU022_TP	11LU022_NB	G	G																c.1118G>C	p.Arg373Pro	p.R373P	ENST00000517970	10/25	192	157	35	169	169	0	strelka-varscan	WWP1,missense_variant,p.Arg373Pro,ENST00000517970,NM_007013.3;WWP1,missense_variant,p.Arg373Pro,ENST00000265428,;WWP1,non_coding_transcript_exon_variant,,ENST00000520374,;WWP1,non_coding_transcript_exon_variant,,ENST00000521079,;WWP1,non_coding_transcript_exon_variant,,ENST00000518683,;	C	ENST00000517970	Transcript	missense_variant	1425/4686	1118/2769	373/922	R/P	cGa/cCa	rs267602027,COSM170354	1		1	WWP1	HGNC	HGNC:17004	protein_coding	YES	CCDS6242.1	ENSP00000427793	Q9H0M0		UPI0000035537	NM_007013.3	deleterious(0.01)		10/25		PROSITE_profiles:PS50020,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF299,PROSITE_patterns:PS01159,Gene3D:2.20.70.10,Pfam_domain:PF00397,PIRSF_domain:PIRSF001569,SMART_domains:SM00456,Superfamily_domains:SSF51045											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												C	3	2	3	86425279	86425279	G	C	1	0	0	0	0	1	0	0	0	17973	1058	37	4		4	WWP1	8	86425279	Missense_Mutation	SNP	G	11LU022_TP	355828	86425279	58713357	485	1157											
RUNX1T1	0	.	GRCh38	chr8	91975971	91975971	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaggaattcccgatgcgCgtctatgaaaaggatgggaa	13	8	14	6	3	1	2	0	2	1	0	2	6	2	5	1	3	1	0	1	3	6	2	rs747964791		11LU022_TP	11LU022_NB	C	C																c.1459G>C	p.Ala487Pro	p.A487P	ENST00000436581	10/12	162	118	44	121	121	0	strelka-varscan	RUNX1T1,missense_variant,p.Ala428Pro,ENST00000613302,NM_001198630.1,NM_001198627.1;RUNX1T1,missense_variant,p.Ala428Pro,ENST00000617740,NM_001198629.1,NM_001198626.1;RUNX1T1,missense_variant,p.Ala428Pro,ENST00000523629,NM_175634.2;RUNX1T1,missense_variant,p.Ala428Pro,ENST00000614812,NM_001198631.1;RUNX1T1,missense_variant,p.Ala487Pro,ENST00000436581,NM_001198679.1;RUNX1T1,missense_variant,p.Ala401Pro,ENST00000613886,NM_001198632.1;RUNX1T1,missense_variant,p.Ala408Pro,ENST00000615601,NM_001198633.1;RUNX1T1,missense_variant,p.Ala428Pro,ENST00000265814,NM_001198628.1;RUNX1T1,missense_variant,p.Ala401Pro,ENST00000396218,NM_004349.3;RUNX1T1,missense_variant,p.Ala401Pro,ENST00000518844,NM_001198625.1;RUNX1T1,missense_variant,p.Ala391Pro,ENST00000422361,NM_175636.2;RUNX1T1,missense_variant,p.Ala391Pro,ENST00000360348,NM_175635.2;RUNX1T1,missense_variant,p.Ala439Pro,ENST00000520724,NM_001198634.1;GS1-5L10.1,non_coding_transcript_exon_variant,,ENST00000522980,;RUNX1T1,splice_region_variant,,ENST00000520978,;RUNX1T1,splice_region_variant,,ENST00000521751,;RUNX1T1,upstream_gene_variant,,ENST00000521078,;	G	ENST00000436581	Transcript	missense_variant,splice_region_variant	1646/7454	1459/1992	487/663	A/P	Gcg/Ccg	rs747964791,COSM3358285,COSM3358286,COSM3358287	1		-1	RUNX1T1	HGNC	HGNC:1535	protein_coding	YES	CCDS75766.1	ENSP00000402257		A0A0A0MSU1	UPI0001E7B0BD	NM_001198679.1	tolerated(0.11)		10/12		hmmpanther:PTHR10379:SF5,hmmpanther:PTHR10379,Prints_domain:PR01876											0,1,1,1						MODERATE		SNV	5		0,1,1,1	1										PASS		.	.												G	3	3	3	91975971	91975971	C	G	1	0	0	0	0	1	0	0	0	14008	782	27	4		4	RUNX1T1	8	91975971	Missense_Mutation	SNP	C	11LU022_TP	5550692	91975971	53162665	486	1158											
KIAA1429	0	.	GRCh38	chr8	94511515	94511515	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcaaaggatccacctctcagGagttccgttaacatagtttt	11	13	7	10	1	2	0	2	0	1	0	5	2	4	2	3	2	1	3	3	2	3	5			11LU022_TP	11LU022_NB	G	G																c.3060C>G	p.=	p.L1020L	ENST00000297591	13/24	342	261	81	267	267	0	strelka-varscan	KIAA1429,synonymous_variant,p.=,ENST00000297591,NM_015496.4;KIAA1429,synonymous_variant,p.=,ENST00000421249,NM_183009.2;KIAA1429,non_coding_transcript_exon_variant,,ENST00000523405,;KIAA1429,synonymous_variant,p.=,ENST00000522263,;KIAA1429,non_coding_transcript_exon_variant,,ENST00000521080,;	C	ENST00000297591	Transcript	synonymous_variant	3136/6528	3060/5439	1020/1812	L	ctC/ctG	COSM4403812,COSM4403813	1		-1	KIAA1429	HGNC	HGNC:24500	protein_coding	YES	CCDS34923.1	ENSP00000297591	Q69YN4		UPI00001BBB23	NM_015496.4			13/24		hmmpanther:PTHR23185,Low_complexity_(Seg):seg											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												C	2	2	3	94511515	94511515	G	C	1	0	0	0	0	0	0	0	1	8114	1161	41	4		4	KIAA1429	8	94511515	Silent	SNP	G	11LU022_TP	2535544	94511515	50627121	487	1159											
UBR5	0	.	GRCh38	chr8	102346959	102346959	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataactggctggggctgacTgcccaaaagcccagaccctc	11	6	10	14	0	0	2	0	1	0	1	1	2	0	2	3	3	3	2	3	3	4	1	novel		11LU022_TP	11LU022_NB	T	T																c.520A>T	p.Ser174Cys	p.S174C	ENST00000520539	6/59	180	154	26	116	116	0	strelka-varscan	UBR5,missense_variant,p.Ser174Cys,ENST00000520539,NM_015902.5;UBR5,missense_variant,p.Ser174Cys,ENST00000220959,NM_001282873.1;UBR5,missense_variant,p.Ser174Cys,ENST00000521922,;UBR5,non_coding_transcript_exon_variant,,ENST00000518145,;	A	ENST00000520539	Transcript	missense_variant	1127/10297	520/8400	174/2799	S/C	Agt/Tgt		1		-1	UBR5	HGNC	HGNC:16806	protein_coding	YES	CCDS34933.1	ENSP00000429084	O95071		UPI0000129BCB	NM_015902.5	deleterious(0.02)		6/59		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF337																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	102346959	102346959	T	A	1	0	0	0	0	1	0	0	0	17429	1580	55	4		4	UBR5	8	102346959	Missense_Mutation	SNP	T	11LU022_TP	7835444	102346959	42791677	488	1160											
RIMS2	0	.	GRCh38	chr8	103961122	103961122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgactgtgatgatggaattgGtgtagtatcaggtaagaatt	12	14	13	2	0	1	4	1	3	0	1	1	5	1	5	0	3	0	3	0	3	5	5	novel		11LU022_TP	11LU022_NB	G	G																c.2759G>T	p.Gly920Val	p.G920V	ENST00000504942	15/24	127	106	21	132	132	0	strelka-varscan	RIMS2,missense_variant,p.Gly712Val,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Gly698Val,ENST00000436393,;RIMS2,missense_variant,p.Gly920Val,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Gly862Val,ENST00000626043,;RIMS2,missense_variant,p.Gly712Val,ENST00000408894,;RIMS2,missense_variant,p.Gly759Val,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Gly908Val,ENST00000632716,;RIMS2,missense_variant,p.Gly314Val,ENST00000507677,;	T	ENST00000504942	Transcript	missense_variant	2898/4228	2759/4050	920/1349	G/V	gGt/gTt		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0.01)		15/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	103961122	103961122	G	T	1	0	0	0	0	1	0	0	0	13543	1261	44	2		2	RIMS2	8	103961122	Missense_Mutation	SNP	G	11LU022_TP	1614163	103961122	41177514	489	1161											
RIMS2	0	.	GRCh38	chr8	104251135	104251135	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagctattatctttcgAagagagtccacaaggaaaag	15	8	9	9	1	1	1	0	0	1	1	3	4	2	2	2	1	2	2	2	1	6	3	novel		11LU022_TP	11LU022_NB	A	A																c.3803A>T	p.Glu1268Val	p.E1268V	ENST00000504942	23/24	150	98	52	100	100	0	strelka-varscan	RIMS2,missense_variant,p.Glu1082Val,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Glu1286Val,ENST00000436393,;RIMS2,missense_variant,p.Glu1268Val,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Glu1107Val,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Glu204Val,ENST00000339750,NM_001282882.1;RIMS2,missense_variant,p.Glu204Val,ENST00000523362,;RIMS2,downstream_gene_variant,,ENST00000626043,;RIMS2,downstream_gene_variant,,ENST00000408894,;	T	ENST00000504942	Transcript	missense_variant	3942/4228	3803/4050	1268/1349	E/V	gAa/gTa		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0)		23/24		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	104251135	104251135	A	T	1	0	0	0	0	1	0	0	0	13543	246	9	4		4	RIMS2	8	104251135	Missense_Mutation	SNP	A	11LU022_TP	290013	104251135	40887501	490	1162											
DCSTAMP	0	.	GRCh38	chr8	104349405	104349405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatcatcccgactttctggCcgactcctaaagaaaggaaa	13	9	7	12	2	3	1	2	0	1	1	5	4	5	2	3	2	0	0	3	2	4	2			11LU022_TP	11LU022_NB	C	C																c.853C>T	p.Pro285Ser	p.P285S	ENST00000297581	2/4	254	196	58	227	227	0	strelka-varscan	DCSTAMP,missense_variant,p.Pro285Ser,ENST00000297581,NM_030788.3;DCSTAMP,intron_variant,,ENST00000622554,NM_001257317.1;DCSTAMP,intron_variant,,ENST00000517991,;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,downstream_gene_variant,,ENST00000518023,;DCSTAMP,upstream_gene_variant,,ENST00000518051,;DCSTAMP,downstream_gene_variant,,ENST00000517364,;DCSTAMP,downstream_gene_variant,,ENST00000519562,;	T	ENST00000297581	Transcript	missense_variant	902/1953	853/1413	285/470	P/S	Ccg/Tcg	COSM1094634	1		1	DCSTAMP	HGNC	HGNC:18549	protein_coding	YES	CCDS6301.1	ENSP00000297581	Q9H295		UPI000003BCB5	NM_030788.3	deleterious(0)		2/4		Pfam_domain:PF07782,hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	3	104349405	104349405	C	T	1	0	0	0	0	1	0	0	0	4106	739	26	3		3	DCSTAMP	8	104349405	Missense_Mutation	SNP	C	11LU022_TP	98270	104349405	40789231	491	1163											
LRP12	0	.	GRCh38	chr8	104588887	104588887	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagactcttttgtgctccagCgacaggccataaccacagca	11	8	9	13	1	1	1	0	0	1	1	2	3	2	1	3	1	4	2	3	1	1	3	novel		11LU022_TP	11LU022_NB	C	C																c.11G>C	p.Arg4Pro	p.R4P	ENST00000276654	1/7	266	194	72	189	189	0	strelka-varscan	LRP12,missense_variant,p.Arg4Pro,ENST00000276654,NM_013437.4;LRP12,missense_variant,p.Arg4Pro,ENST00000424843,NM_001135703.2;LRP12,non_coding_transcript_exon_variant,,ENST00000520770,;ZFPM2,upstream_gene_variant,,ENST00000521923,;LRP12,non_coding_transcript_exon_variant,,ENST00000519675,;	G	ENST00000276654	Transcript	missense_variant	120/4112	11/2580	4/859	R/P	cGc/cCc		1		-1	LRP12	HGNC	HGNC:31708	protein_coding	YES	CCDS6303.1	ENSP00000276654	Q9Y561		UPI0000047A9F	NM_013437.4	tolerated_low_confidence(0.2)		1/7		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	104588887	104588887	C	G	1	0	0	0	0	1	0	0	0	8849	768	27	4		4	LRP12	8	104588887	Missense_Mutation	SNP	C	11LU022_TP	239482	104588887	40549749	492	1164											
OXR1	0	.	GRCh38	chr8	106702973	106702973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccacataaaaatgaccCtttggttcaagagaatggct	14	11	8	8	0	1	3	1	2	0	1	2	4	2	3	2	2	0	2	2	2	5	3	rs750085755		11LU022_TP	11LU022_NB	C	C																c.746C>T	p.Pro249Leu	p.P249L	ENST00000442977	7/16	191	140	51	176	176	0	strelka-varscan	OXR1,missense_variant,p.Pro248Leu,ENST00000517566,NM_001198533.1;OXR1,missense_variant,p.Pro241Leu,ENST00000312046,NM_181354.4;OXR1,missense_variant,p.Pro248Leu,ENST00000531443,NM_018002.3;OXR1,missense_variant,p.Pro249Leu,ENST00000442977,NM_001198532.1;OXR1,missense_variant,p.Pro181Leu,ENST00000497705,;OXR1,upstream_gene_variant,,ENST00000519415,;OXR1,non_coding_transcript_exon_variant,,ENST00000517455,;OXR1,3_prime_UTR_variant,,ENST00000438229,;OXR1,intron_variant,,ENST00000435082,;TAGLN2P1,upstream_gene_variant,,ENST00000524097,;	T	ENST00000442977	Transcript	missense_variant	845/2956	746/2625	249/874	P/L	cCt/cTt	rs750085755	1		1	OXR1	HGNC	HGNC:15822	protein_coding	YES	CCDS56548.1	ENSP00000405424	Q8N573		UPI0001914BEA	NM_001198532.1	deleterious(0.04)		7/16		hmmpanther:PTHR23354:SF69,hmmpanther:PTHR23354																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	106702973	106702973	C	T	1	0	0	0	0	1	0	0	0	11407	681	24	3		3	OXR1	8	106702973	Missense_Mutation	SNP	C	11LU022_TP	2114086	106702973	38435663	493	1165											
TMEM74	0	.	GRCh38	chr8	108784459	108784459	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttctccaggcgctccaTctcccgggctgccacagtgt	4	10	9	18	2	2	0	0	0	2	0	6	0	4	0	5	2	1	2	5	2	0	1	novel		11LU022_TP	11LU022_NB	T	T																c.640A>G	p.Met214Val	p.M214V	ENST00000297459	2/2	339	240	99	232	231	1	strelka-varscan	TMEM74,missense_variant,p.Met214Val,ENST00000297459,NM_153015.1;TMEM74,intron_variant,,ENST00000518838,;	C	ENST00000297459	Transcript	missense_variant	819/1741	640/918	214/305	M/V	Atg/Gtg		1		-1	TMEM74	HGNC	HGNC:26409	protein_coding	YES	CCDS6310.1	ENSP00000297459	Q96NL1	A0A024R9D4	UPI000006E80B	NM_153015.1	deleterious(0)		2/2		hmmpanther:PTHR16125,hmmpanther:PTHR16125:SF3,Pfam_domain:PF14927																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	108784459	108784459	T	C	1	0	0	0	0	1	0	0	0	16677	1435	50	5		5	TMEM74	8	108784459	Missense_Mutation	SNP	T	11LU022_TP	2081486	108784459	36354177	494	1166											
CSMD3	0	.	GRCh38	chr8	112685705	112685705	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagaactgttcccattGgtgcagtaaagttagacagg	14	9	12	6	0	0	3	0	0	0	3	1	4	1	3	1	2	2	4	1	2	5	4	novel		11LU022_TP	11LU022_NB	G	G																c.2183C>G	p.Pro728Arg	p.P728R	ENST00000297405	15/71	193	180	13	196	196	0	strelka-varscan	CSMD3,missense_variant,p.Pro728Arg,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Pro688Arg,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Pro624Arg,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Pro68Arg,ENST00000339701,;	C	ENST00000297405	Transcript	missense_variant	2428/13212	2183/11124	728/3707	P/R	cCa/cGa		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	tolerated(0.1)		15/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	112685705	112685705	G	C	1	0	0	0	0	1	0	0	0	3747	1348	47	4		4	CSMD3	8	112685705	Missense_Mutation	SNP	G	11LU022_TP	3901246	112685705	32452931	495	1167											
TNFRSF11B	0	.	GRCh38	chr8	118924436	118924436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttctaaaaataacttctGatacaatttgtacattgtga	15	16	4	6	0	2	2	0	2	2	0	2	2	2	2	0	0	3	1	0	0	7	8			11LU022_TP	11LU022_NB	G	G																c.1144C>A	p.Gln382Lys	p.Q382K	ENST00000297350	5/5	157	144	13	179	179	0	strelka-varscan	TNFRSF11B,missense_variant,p.Gln382Lys,ENST00000297350,NM_002546.3;TNFRSF11B,downstream_gene_variant,,ENST00000517352,;TNFRSF11B,downstream_gene_variant,,ENST00000521597,;	T	ENST00000297350	Transcript	missense_variant	1523/2402	1144/1206	382/401	Q/K	Cag/Aag	COSM5563658,COSM5563659	1		-1	TNFRSF11B	HGNC	HGNC:11909	protein_coding	YES	CCDS6326.1	ENSP00000297350	O00300		UPI0000157F05	NM_002546.3	deleterious(0.01)		5/5		hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF90,PIRSF_domain:PIRSF038065,Prints_domain:PR01975											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	3	118924436	118924436	G	T	1	0	0	0	0	1	0	0	0	16759	1299	45	2		2	TNFRSF11B	8	118924436	Missense_Mutation	SNP	G	11LU022_TP	6238731	118924436	26214200	496	1168											
ENPP2	0	.	GRCh38	chr8	119570816	119570816	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtccgataaagcactgcAggtcgcccatagaggaggtg	11	7	13	10	2	0	1	0	0	0	1	2	3	1	2	2	3	2	2	2	3	4	3	novel		11LU022_TP	11LU022_NB	A	A																c.1962T>C	p.=	p.P654P	ENST00000259486	21/26	176	118	58	154	154	0	strelka-varscan	ENPP2,synonymous_variant,p.=,ENST00000427067,;ENPP2,synonymous_variant,p.=,ENST00000259486,NM_006209.4;ENPP2,synonymous_variant,p.=,ENST00000522826,NM_001130863.2;ENPP2,synonymous_variant,p.=,ENST00000075322,NM_001040092.2;ENPP2,synonymous_variant,p.=,ENST00000522167,;ENPP2,downstream_gene_variant,,ENST00000518109,;ENPP2,non_coding_transcript_exon_variant,,ENST00000523861,;	G	ENST00000259486	Transcript	synonymous_variant	2012/3233	1962/2748	654/915	P	ccT/ccC		1		-1	ENPP2	HGNC	HGNC:3357	protein_coding	YES	CCDS6329.1	ENSP00000259486	Q13822		UPI000013C57A	NM_006209.4			21/26		hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF21,Superfamily_domains:SSF54060																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	3	119570816	119570816	A	G	1	0	0	0	0	0	0	0	1	4975	175	7	5		5	ENPP2	8	119570816	Silent	SNP	A	11LU022_TP	646380	119570816	25567820	497	1169											
ADCY8	0	.	GRCh38	chr8	130867855	130867855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacatttaccttgaagaaGgaagcaaactttgtattgcc	13	14	7	7	0	0	2	0	1	0	1	0	3	0	3	2	1	5	2	2	1	7	8	rs755996379		11LU022_TP	11LU022_NB	G	G																c.2201C>A	p.Pro734His	p.P734H	ENST00000286355	9/18	91	84	7	114	113	1	strelka-varscan	ADCY8,missense_variant,p.Pro734His,ENST00000286355,NM_001115.2;ADCY8,intron_variant,,ENST00000377928,;	T	ENST00000286355	Transcript	missense_variant	4294/5938	2201/3756	734/1251	P/H	cCt/cAt	rs755996379,COSM140612	1		-1	ADCY8	HGNC	HGNC:239	protein_coding	YES	CCDS6363.1	ENSP00000286355	P40145	A0A0K0K1K3	UPI000012887C	NM_001115.2	deleterious(0)		9/18		hmmpanther:PTHR11920:SF320,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	3	130867855	130867855	G	T	1	0	0	0	0	1	0	0	0	344	1000	35	2		2	ADCY8	8	130867855	Missense_Mutation	SNP	G	11LU022_TP	11297039	130867855	14270781	498	1170											
TG	0	.	GRCh38	chr8	132887195	132887195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtactcagctcccagacctGtgagcagacacctgaaaggc	11	6	11	13	0	1	4	1	2	0	2	2	4	2	4	3	2	3	3	3	2	2	1	novel		11LU022_TP	11LU022_NB	G	G																c.1823G>T	p.Cys608Phe	p.C608F	ENST00000220616	9/48	95	88	7	121	120	1	strelka-varscan	TG,missense_variant,p.Cys608Phe,ENST00000220616,NM_003235.4;TG,downstream_gene_variant,,ENST00000520769,;	T	ENST00000220616	Transcript	missense_variant	1863/8450	1823/8307	608/2768	C/F	tGt/tTt		1		1	TG	HGNC	HGNC:11764	protein_coding	YES	CCDS34944.1	ENSP00000220616	P01266		UPI000013C79F	NM_003235.4	deleterious(0)		9/48		PROSITE_profiles:PS51162,hmmpanther:PTHR14093:SF16,hmmpanther:PTHR14093,Pfam_domain:PF00086,PIRSF_domain:PIRSF001831,Gene3D:4.10.800.10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	132887195	132887195	G	T	1	0	0	0	0	1	0	0	0	16246	1377	48	2		2	TG	8	132887195	Missense_Mutation	SNP	G	11LU022_TP	2019340	132887195	12251441	499	1171											
TG	0	.	GRCh38	chr8	133113604	133113604	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctctggagaatgccacccgGtaagctaagctgcaggaggg	10	6	15	10	1	1	1	0	0	1	1	1	3	1	2	2	4	4	5	2	4	3	2			11LU022_TP	11LU022_NB	G	G																c.7754+1G>T		p.X2585_splice	ENST00000220616		175	125	50	183	182	1	strelka-varscan	TG,splice_donor_variant,,ENST00000220616,NM_003235.4;TG,splice_donor_variant,,ENST00000519178,;TG,splice_donor_variant,,ENST00000519543,;TG,splice_donor_variant,,ENST00000521107,;TG,splice_donor_variant,,ENST00000523756,;TG,non_coding_transcript_exon_variant,,ENST00000522809,;TG,downstream_gene_variant,,ENST00000522996,;	T	ENST00000220616	Transcript	splice_donor_variant	-/8450	7754/8307	2585/2768			COSM3924673	1		1	TG	HGNC	HGNC:11764	protein_coding	YES	CCDS34944.1	ENSP00000220616	P01266		UPI000013C79F	NM_003235.4				44/47												1						HIGH	1	SNV	1		1	1										PASS		.	.												T	5	4	3	133113604	133113604	G	T	1	0	0	0	0	0	0	1	0	16246	1275	44	2		2	TG	8	133113604	Splice_Site	SNP	G	11LU022_TP	226409	133113604	12025032	500	1172											
FAM135B	0	.	GRCh38	chr8	138243038	138243038	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgggccacctttaccAagccaggagcctcttcctgg	6	10	11	14	0	2	0	0	0	2	0	3	1	3	1	6	3	3	0	6	3	2	3	novel		11LU022_TP	11LU022_NB	A	A																c.573T>C	p.=	p.L191L	ENST00000395297	7/20	123	69	54	135	135	0	strelka-varscan	FAM135B,synonymous_variant,p.=,ENST00000395297,NM_015912.3;FAM135B,synonymous_variant,p.=,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;	G	ENST00000395297	Transcript	synonymous_variant	744/6962	573/4221	191/1406	L	ctT/ctC		1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3			7/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	3	138243038	138243038	A	G	1	0	0	0	0	0	0	0	1	5299	117	5	5		5	FAM135B	8	138243038	Silent	SNP	A	11LU022_TP	5129434	138243038	6895598	501	1173											
COL22A1	0	.	GRCh38	chr8	138807768	138807768	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccatgcctgtactgacCtttggaccagggagccccat	7	10	10	14	0	1	1	0	1	1	0	1	3	1	3	6	2	4	1	6	2	1	2	novel		11LU022_TP	11LU022_NB	C	C																c.1494G>T	p.Lys498Asn	p.K498N	ENST00000303045	10/65	186	127	59	239	237	2	strelka-varscan	COL22A1,missense_variant,p.Lys498Asn,ENST00000303045,NM_152888.2;COL22A1,intron_variant,,ENST00000435777,;	A	ENST00000303045	Transcript	missense_variant,splice_region_variant	1941/6346	1494/4881	498/1626	K/N	aaG/aaT		1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2	deleterious(0.02)		10/65		hmmpanther:PTHR24023																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	138807768	138807768	C	A	1	0	0	0	0	1	0	0	0	3469	695	24	2		2	COL22A1	8	138807768	Missense_Mutation	SNP	C	11LU022_TP	564730	138807768	6330868	502	1174											
CCDC166	0	.	GRCh38	chr8	143707372	143707372	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatggcctgcgtgtgcgcCacaagcgcgcgcaccgcctc	5	7	13	16	6	0	1	0	1	0	0	1	1	0	1	4	1	3	1	4	1	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.642G>T	p.=	p.V214V	ENST00000542437	2/2	54	29	25	65	65	0	strelka-varscan	CCDC166,synonymous_variant,p.=,ENST00000542437,NM_001162914.1;RP11-429J17.4,downstream_gene_variant,,ENST00000527579,;ZNF707,intron_variant,,ENST00000527561,;ZNF707,upstream_gene_variant,,ENST00000508587,;	A	ENST00000542437	Transcript	synonymous_variant	642/1320	642/1320	214/439	V	gtG/gtT		1		-1	CCDC166	HGNC	HGNC:41910	protein_coding	YES	CCDS55280.1	ENSP00000437468	P0CW27		UPI00016623E2	NM_001162914.1			2/2		Pfam_domain:PF14988,hmmpanther:PTHR14845,hmmpanther:PTHR14845:SF4,Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	3	143707372	143707372	C	A	1	0	0	0	0	0	0	0	1	2482	581	21	2		2	CCDC166	8	143707372	Silent	SNP	C	11LU022_TP	4899604	143707372	1431264	503	1175											
OPLAH	0	.	GRCh38	chr8	144053346	144053346	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtgcaggtttctggttcCgctgcagttggggaccttgc	3	13	15	10	2	1	0	0	0	1	0	3	1	2	1	2	4	3	6	2	4	0	4	rs550610840		11LU022_TP	11LU022_NB	C	C																c.2734G>T	p.Gly912Ter	p.G912*	ENST00000618853	20/27	117	67	50	165	165	0	strelka-varscan	OPLAH,stop_gained,p.Gly912Ter,ENST00000618853,NM_017570.4;MIR6846,downstream_gene_variant,,ENST00000613469,;SMPD5,downstream_gene_variant,,ENST00000528912,;SMPD5,downstream_gene_variant,,ENST00000561181,;OPLAH,non_coding_transcript_exon_variant,,ENST00000527993,;OPLAH,non_coding_transcript_exon_variant,,ENST00000531027,;	A	ENST00000618853	Transcript	stop_gained	2838/4031	2734/3867	912/1288	G/*	Gga/Tga	rs550610840	1		-1	OPLAH	HGNC	HGNC:8149	protein_coding	YES	CCDS75802.1	ENSP00000480476	O14841		UPI000035154E	NM_017570.4			20/27		Pfam_domain:PF02538,hmmpanther:PTHR11365,hmmpanther:PTHR11365:SF2																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	3	144053346	144053346	C	A	1	0	0	0	0	0	1	0	0	10953	661	23	1		1	OPLAH	8	144053346	Nonsense_Mutation	SNP	C	11LU022_TP	345974	144053346	1085290	504	1176											
ZNF251	0	.	GRCh38	chr8	144754236	144754236	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccagcatcacatcccggTagagcgcccgctgctggggg	6	7	13	15	3	2	1	1	0	1	1	4	1	3	1	3	3	3	4	3	3	1	1	novel		11LU022_TP	11LU022_NB	T	T																c.119A>T	p.Tyr40Phe	p.Y40F	ENST00000292562	3/5	162	135	27	150	150	0	strelka-varscan	ZNF251,missense_variant,p.Tyr40Phe,ENST00000292562,NM_138367.1;ZNF251,missense_variant,p.Tyr78Phe,ENST00000525191,;ZNF251,non_coding_transcript_exon_variant,,ENST00000524394,;ZNF251,non_coding_transcript_exon_variant,,ENST00000530353,;	A	ENST00000292562	Transcript	missense_variant	395/2807	119/2016	40/671	Y/F	tAc/tTc		1		-1	ZNF251	HGNC	HGNC:13045	protein_coding	YES	CCDS47944.1	ENSP00000292562	Q9BRH9		UPI0000160D9A	NM_138367.1	tolerated(0.27)		3/5		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF202,SMART_domains:SM00349																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	3	144754236	144754236	T	A	1	0	0	0	0	1	0	0	0	18372	1638	57	4		4	ZNF251	8	144754236	Missense_Mutation	SNP	T	11LU022_TP	700890	144754236	384400	505	1177											
GLDC	0	.	GRCh38	chr9	6592219	6592219	+	Missense_Mutation	SNP	C	C	A																															ctgtttcatcaagagaaataCcaagctacagaaacacaaac																								novel		11LU022_TP	11LU022_NB	C	C																c.1406G>T	p.Gly469Val	p.G469V	ENST00000321612	11/25	184	148	36	292	292	0	strelka-varscan-mutect	GLDC,missense_variant,p.Gly469Val,ENST00000321612,NM_000170.2;GLDC,non_coding_transcript_exon_variant,,ENST00000463305,;	A	ENST00000321612	Transcript	missense_variant	1557/3767	1406/3063	469/1020	G/V	gGt/gTt		1		-1	GLDC	HGNC	HGNC:4313	protein_coding	YES	CCDS34987.1	ENSP00000370737	P23378		UPI0000684276	NM_000170.2	deleterious(0)		11/25		HAMAP:MF_00711,hmmpanther:PTHR11773,hmmpanther:PTHR11773:SF1,Pfam_domain:PF02347,TIGRFAM_domain:TIGR00461,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	6592219	6592219	C	A	1	0	0	0	0	1	0	0	0	6311	521	18	2		2	GLDC	9	6592219	Missense_Mutation	SNP	C	11LU022_TP		6592219	131802498	506	1178	29	2									
GLDC	0	.	GRCh38	chr9	6592220	6592220	+	Missense_Mutation	SNP	C	C	A																															tgtttcatcaagagaaatacCaagctacagaaacacaaaca																								novel		11LU022_TP	11LU022_NB	C	C																c.1405G>T	p.Gly469Cys	p.G469C	ENST00000321612	11/25	183	146	37	290	289	1	strelka-varscan-mutect	GLDC,missense_variant,p.Gly469Cys,ENST00000321612,NM_000170.2;GLDC,non_coding_transcript_exon_variant,,ENST00000463305,;	A	ENST00000321612	Transcript	missense_variant	1556/3767	1405/3063	469/1020	G/C	Ggt/Tgt		1		-1	GLDC	HGNC	HGNC:4313	protein_coding	YES	CCDS34987.1	ENSP00000370737	P23378		UPI0000684276	NM_000170.2	deleterious(0.01)		11/25		HAMAP:MF_00711,hmmpanther:PTHR11773,hmmpanther:PTHR11773:SF1,Pfam_domain:PF02347,TIGRFAM_domain:TIGR00461,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	6592220	6592220	C	A	1	0	0	0	0	1	0	0	0	6311	608	21	2		2	GLDC	9	6592220	Missense_Mutation	SNP	C	11LU022_TP	1	6592220	131802497	507	1179	29	2									
FREM1	0	.	GRCh38	chr9	14801827	14801827	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaatgtccaggtccacAgcgctgatgatggaagagtc	10	8	15	8	1	0	3	0	2	0	1	3	5	2	5	2	4	1	1	2	4	2	0	novel		11LU022_TP	11LU022_NB	A	A																c.3519T>G	p.=	p.A1173A	ENST00000422223	21/38	129	92	37	151	151	0	strelka-varscan-mutect	FREM1,synonymous_variant,p.=,ENST00000422223,NM_144966.5;FREM1,synonymous_variant,p.=,ENST00000380880,;FREM1,synonymous_variant,p.=,ENST00000380875,;	C	ENST00000422223	Transcript	synonymous_variant	4335/10086	3519/6540	1173/2179	A	gcT/gcG		1		-1	FREM1	HGNC	HGNC:23399	protein_coding	YES	CCDS47952.1	ENSP00000412940	Q5H8C1		UPI000057A218	NM_144966.5			21/38		Pfam_domain:PF16184,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF24																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	3	14801827	14801827	A	C	1	0	0	0	0	0	0	0	1	5911	175	7	5		5	FREM1	9	14801827	Silent	SNP	A	11LU022_TP	8209607	14801827	123592890	508	1180											
FOCAD	0	.	GRCh38	chr9	20740255	20740255	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatacacatggcttgataAaagccattatgcacttacta	16	11	6	8	0	0	1	0	1	0	0	0	2	0	1	1	1	4	2	1	1	7	6	novel		11LU022_TP	11LU022_NB	A	A																c.307A>T	p.Lys103Ter	p.K103*	ENST00000380249	7/46	62	51	11	68	67	1	strelka-varscan-mutect	FOCAD,stop_gained,p.Lys103Ter,ENST00000380249,NM_017794.4;FOCAD,stop_gained,p.Lys103Ter,ENST00000338382,;FOCAD,non_coding_transcript_exon_variant,,ENST00000604103,;FOCAD,non_coding_transcript_exon_variant,,ENST00000605031,;	T	ENST00000380249	Transcript	stop_gained	671/6096	307/5406	103/1801	K/*	Aaa/Taa		1		1	FOCAD	HGNC	HGNC:23377	protein_coding	YES	CCDS34993.1	ENSP00000369599	Q5VW36		UPI0000EE4244	NM_017794.4			7/46		hmmpanther:PTHR16212,hmmpanther:PTHR16212:SF4																	HIGH	1	SNV	1			1										PASS		rs1245631784	.												T	4	4	3	20740255	20740255	A	T	1	0	0	0	0	0	1	0	0	5839	15	1	4		4	FOCAD	9	20740255	Nonsense_Mutation	SNP	A	11LU022_TP	5938428	20740255	117654462	509	1181											
PRSS3	0	.	GRCh38	chr9	33750662	33750662	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggcctggagctgcaccCgcttctgggtggacgcactt	4	8	16	13	3	1	0	0	0	1	0	1	2	1	2	2	5	2	4	2	5	0	2	novel		11LU022_TP	11LU022_NB	C	C																c.146C>A	p.Pro49Gln	p.P49Q	ENST00000361005	1/5	41	31	10	43	43	0	strelka-varscan-mutect	PRSS3,missense_variant,p.Pro49Gln,ENST00000361005,NM_007343.3;PRSS3,5_prime_UTR_variant,,ENST00000342836,NM_001197097.2;PRSS3,upstream_gene_variant,,ENST00000429677,NM_001197098.1;PRSS3,upstream_gene_variant,,ENST00000457896,;PRSS3,upstream_gene_variant,,ENST00000468152,;	A	ENST00000361005	Transcript	missense_variant	146/966	146/915	49/304	P/Q	cCg/cAg		1		1	PRSS3	HGNC	HGNC:9486	protein_coding	YES	CCDS47958.1	ENSP00000354280	P35030		UPI000013C519	NM_007343.3	deleterious_low_confidence(0)		1/5		hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF23																	MODERATE	1	SNV	1			1										PASS		rs1340722501	.												A	3	1	3	33750662	33750662	C	A	1	0	0	0	0	1	0	0	0	12769	652	23	1		1	PRSS3	9	33750662	Missense_Mutation	SNP	C	11LU022_TP	13010407	33750662	104644055	510	1182											
PRSS3	0	.	GRCh38	chr9	33750682	33750682	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttctgggtggacgcactTggcgagcggcgcgggatgca	5	7	18	11	6	1	0	0	0	1	0	1	3	1	2	0	5	2	3	0	5	0	2	novel		11LU022_TP	11LU022_NB	T	T																c.166T>A	p.Trp56Arg	p.W56R	ENST00000361005	1/5	38	30	8	23	23	0	strelka-varscan-mutect	PRSS3,missense_variant,p.Trp56Arg,ENST00000361005,NM_007343.3;PRSS3,5_prime_UTR_variant,,ENST00000342836,NM_001197097.2;PRSS3,upstream_gene_variant,,ENST00000429677,NM_001197098.1;PRSS3,upstream_gene_variant,,ENST00000457896,;PRSS3,non_coding_transcript_exon_variant,,ENST00000468152,;	A	ENST00000361005	Transcript	missense_variant	166/966	166/915	56/304	W/R	Tgg/Agg		1		1	PRSS3	HGNC	HGNC:9486	protein_coding	YES	CCDS47958.1	ENSP00000354280	P35030		UPI000013C519	NM_007343.3	tolerated_low_confidence(0.39)		1/5		hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF23																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	33750682	33750682	T	A	1	0	0	0	0	1	0	0	0	12769	1812	63	4		4	PRSS3	9	33750682	Missense_Mutation	SNP	T	11LU022_TP	20	33750682	104644035	511	1183											
FAM205A	0	.	GRCh38	chr9	34725929	34725929	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggactcactgtgcagagaAgggagcccacagaatagctg	13	5	14	9	0	1	2	1	0	0	2	1	5	1	4	1	2	3	2	1	2	3	1	novel		11LU022_TP	11LU022_NB	A	A																c.1311T>A	p.=	p.P437P	ENST00000378788	4/4	173	152	21	197	197	0	varscan-mutect	FAM205A,synonymous_variant,p.=,ENST00000378788,NM_001141917.1;	T	ENST00000378788	Transcript	synonymous_variant	1351/4225	1311/4008	437/1335	P	ccT/ccA		1		-1	FAM205A	HGNC	HGNC:41911	protein_coding	YES	CCDS55305.1	ENSP00000417711	Q6ZU69		UPI00017EE92B	NM_001141917.1			4/4		hmmpanther:PTHR21859:SF15,hmmpanther:PTHR21859,Pfam_domain:PF14650																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	3	34725929	34725929	A	T	1	0	0	0	0	0	0	0	1	5386	59	3	4		4	FAM205A	9	34725929	Silent	SNP	A	11LU022_TP	975247	34725929	103668788	512	1184											
FAM205A	0	.	GRCh38	chr9	34726945	34726945	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcagcagggatctgcacAcaggattcgccgcacacttc	9	8	11	13	2	1	0	0	0	1	0	3	2	1	2	1	3	2	4	1	3	0	3	novel		11LU022_TP	11LU022_NB	A	A																c.295T>A	p.Cys99Ser	p.C99S	ENST00000378788	4/4	138	111	27	122	122	0	strelka-varscan-mutect	FAM205A,missense_variant,p.Cys99Ser,ENST00000378788,NM_001141917.1;	T	ENST00000378788	Transcript	missense_variant	335/4225	295/4008	99/1335	C/S	Tgt/Agt		1		-1	FAM205A	HGNC	HGNC:41911	protein_coding	YES	CCDS55305.1	ENSP00000417711	Q6ZU69		UPI00017EE92B	NM_001141917.1	deleterious(0.01)		4/4		hmmpanther:PTHR21859:SF15,hmmpanther:PTHR21859,Pfam_domain:PF15371																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	34726945	34726945	A	T	1	0	0	0	0	1	0	0	0	5386	159	6	4		4	FAM205A	9	34726945	Missense_Mutation	SNP	A	11LU022_TP	1016	34726945	103667772	513	1185											
ZBTB5	0	.	GRCh38	chr9	37441749	37441749	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggcacctgggcatctTcttgagtgccaaaagactga	9	9	13	10	0	2	3	0	2	2	1	2	3	2	3	2	3	1	3	2	3	2	2	novel		11LU022_TP	11LU022_NB	T	T																c.803A>G	p.Glu268Gly	p.E268G	ENST00000307750	2/2	122	104	18	170	170	0	strelka-varscan-mutect	ZBTB5,missense_variant,p.Glu268Gly,ENST00000307750,NM_014872.2;GRHPR,downstream_gene_variant,,ENST00000318158,NM_012203.1;GRHPR,downstream_gene_variant,,ENST00000460882,;GRHPR,downstream_gene_variant,,ENST00000497693,;GRHPR,downstream_gene_variant,,ENST00000480596,;GRHPR,downstream_gene_variant,,ENST00000494290,;	C	ENST00000307750	Transcript	missense_variant	992/4627	803/2034	268/677	E/G	gAa/gGa		1		-1	ZBTB5	HGNC	HGNC:23836	protein_coding	YES	CCDS6610.1	ENSP00000307604	O15062	Q5T942	UPI000006FAE2	NM_014872.2	deleterious_low_confidence(0)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	37441749	37441749	T	C	1	0	0	0	0	1	0	0	0	18121	1783	62	5		5	ZBTB5	9	37441749	Missense_Mutation	SNP	T	11LU022_TP	2714804	37441749	100952968	514	1186											
FP325317.1	0	.	GRCh38	chr9	43111383	43111383	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagttagtgaagctcaCagctgcgttcatgtgggctc	8	11	12	10	1	2	1	2	1	0	0	3	1	2	1	0	1	4	6	0	1	2	2	novel		11LU022_TP	11LU022_NB	C	C																c.13G>T	p.Val5Leu	p.V5L	ENST00000539936	4/7	57	53	4	78	78	0	varscan-mutect	FP325317.1,missense_variant,p.Val5Leu,ENST00000539936,;	A	ENST00000539936	Transcript	missense_variant	345/1681	13/498	5/165	V/L	Gtg/Ttg		1		-1	FP325317.1	Clone_based_ensembl_gene		protein_coding	YES		ENSP00000439534		F6QWF9	UPI000514C5D5		tolerated(0.06)		4/7		Gene3D:1.20.1080.10,Pfam_domain:PF00230,hmmpanther:PTHR19139,hmmpanther:PTHR19139:SF16,Superfamily_domains:SSF81338																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	43111383	43111383	C	A	1	0	0	0	0	1	0	0	0	5901	478	17	2		2	FP325317.1	9	43111383	Missense_Mutation	SNP	C	11LU022_TP	5669634	43111383	95283334	515	1187											
TRPM6	0	.	GRCh38	chr9	74755370	74755370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tacctgtgtgactaaatttgGacactgtgaaccagttcttg	10	14	9	8	0	1	2	0	2	1	0	1	3	1	3	2	1	2	1	2	1	4	5	novel		11LU022_TP	11LU022_NB	G	G																c.4889C>G	p.Ser1630Cys	p.S1630C	ENST00000360774	28/39	371	265	106	337	337	0	strelka-varscan-mutect	TRPM6,missense_variant,p.Ser1630Cys,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Ser1625Cys,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Ser1625Cys,ENST00000449912,NM_001177310.1;	C	ENST00000360774	Transcript	missense_variant	5127/8425	4889/6069	1630/2022	S/C	tCc/tGc		1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4	deleterious_low_confidence(0)		28/39		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	74755370	74755370	G	C	1	0	0	0	0	1	0	0	0	17096	1174	41	4		4	TRPM6	9	74755370	Missense_Mutation	SNP	G	11LU022_TP	31643987	74755370	63639347	516	1188											
PRUNE2	0	.	GRCh38	chr9	76711267	76711267	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaagtcactgaagggtccTcttgttggtacaccaggatc	10	10	10	11	0	2	1	1	1	1	0	4	2	3	2	2	3	1	2	2	3	3	3	novel		11LU022_TP	11LU022_NB	T	T																c.1007A>G	p.Glu336Gly	p.E336G	ENST00000376718	8/19	222	168	54	200	199	1	strelka-varscan-mutect	PRUNE2,missense_variant,p.Glu336Gly,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Glu336Gly,ENST00000443509,NM_001308047.1,NM_001308048.1;PRUNE2,5_prime_UTR_variant,,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000426088,;	C	ENST00000376718	Transcript	missense_variant	1131/12584	1007/9267	336/3088	E/G	gAg/gGg		1		-1	PRUNE2	HGNC	HGNC:25209	protein_coding	YES	CCDS47982.1	ENSP00000365908	Q8WUY3		UPI0001612CC0	NM_015225.2	deleterious(0)		8/19		Pfam_domain:PF02833,SMART_domains:SM01131																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	3	76711267	76711267	T	C	1	0	0	0	0	1	0	0	0	12791	1551	54	5		5	PRUNE2	9	76711267	Missense_Mutation	SNP	T	11LU022_TP	1955897	76711267	61683450	517	1189											
SPATA31D1	0	.	GRCh38	chr9	81991512	81991512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaatcaaaggcattgacCattcacaccttgcatcttca	14	10	4	13	0	4	1	3	1	1	0	4	1	4	1	2	1	2	2	2	1	3	4	novel		11LU022_TP	11LU022_NB	C	C																c.1042C>A	p.His348Asn	p.H348N	ENST00000344803	4/4	388	350	38	473	471	2	strelka-varscan-mutect	SPATA31D1,missense_variant,p.His348Asn,ENST00000344803,NM_001001670.2;RP11-15B24.5,intron_variant,,ENST00000637606,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	A	ENST00000344803	Transcript	missense_variant	1089/4833	1042/4731	348/1576	H/N	Cat/Aat		1		1	SPATA31D1	HGNC	HGNC:37283	protein_coding	YES	CCDS47986.1	ENSP00000341988	Q6ZQQ2		UPI00001C10A6	NM_001001670.2	tolerated(0.19)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF12																	MODERATE	1	SNV	2			1										PASS		rs1428932337	.												A	3	1	3	81991512	81991512	C	A	1	0	0	0	0	1	0	0	0	15347	594	21	2		2	SPATA31D1	9	81991512	Missense_Mutation	SNP	C	11LU022_TP	5280245	81991512	56403205	518	1190											
GAS1	0	.	GRCh38	chr9	86945816	86945816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccggggcgccaagcggcCgccgccgccgctgctcctgc	2	3	15	21	7	0	0	0	0	0	0	1	0	1	0	8	3	3	2	8	3	1	0	novel		11LU022_TP	11LU022_NB	C	C																c.964G>T	p.Gly322Cys	p.G322C	ENST00000298743	1/1	244	177	67	267	267	0	strelka-varscan-mutect	GAS1,missense_variant,p.Gly322Cys,ENST00000298743,NM_002048.2;GAS1RR,upstream_gene_variant,,ENST00000415801,;	A	ENST00000298743	Transcript	missense_variant	1374/2827	964/1038	322/345	G/C	Ggc/Tgc		1		-1	GAS1	HGNC	HGNC:4165	protein_coding	YES	CCDS6674.1	ENSP00000298743	P54826		UPI0000140B67	NM_002048.2	tolerated_low_confidence(0.18)		1/1		hmmpanther:PTHR16840,hmmpanther:PTHR16840:SF3,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		rs1347299119	.												A	3	1	3	86945816	86945816	C	A	1	0	0	0	0	1	0	0	0	6114	652	23	1		1	GAS1	9	86945816	Missense_Mutation	SNP	C	11LU022_TP	4954304	86945816	51448901	519	1191											
WNK2	0	.	GRCh38	chr9	93289364	93289364	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggagtcggatggggaagGgccgccccccagggtgggct	5	5	19	12	2	0	0	0	0	0	0	1	3	0	3	5	7	0	1	5	7	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.4721G>C	p.Gly1574Ala	p.G1574A	ENST00000297954	20/30	127	112	15	150	150	0	strelka-mutect	WNK2,missense_variant,p.Gly1533Ala,ENST00000432730,;WNK2,missense_variant,p.Gly1574Ala,ENST00000297954,NM_001282394.1;WNK2,missense_variant,p.Gly1537Ala,ENST00000395477,NM_006648.3;WNK2,missense_variant,p.Gly1141Ala,ENST00000411624,;WNK2,missense_variant,p.Gly334Ala,ENST00000448251,;WNK2,missense_variant,p.Gly60Ala,ENST00000453718,;WNK2,5_prime_UTR_variant,,ENST00000427277,;WNK2,upstream_gene_variant,,ENST00000474009,;WNK2,upstream_gene_variant,,ENST00000479696,;	C	ENST00000297954	Transcript	missense_variant	4721/7138	4721/6894	1574/2297	G/A	gGg/gCg		1		1	WNK2	HGNC	HGNC:14542	protein_coding	YES	CCDS75858.1	ENSP00000297954	Q9Y3S1		UPI0000236D76	NM_001282394.1	deleterious(0)		20/30		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	93289364	93289364	G	C	1	0	0	0	0	1	0	0	0	17934	1232	43	4		4	WNK2	9	93289364	Missense_Mutation	SNP	G	11LU022_TP	6343548	93289364	45105353	520	1192											
GABBR2	0	.	GRCh38	chr9	98708654	98708654	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggcagcagcagcggcagCagcagtagcagtagcaggcg	12	2	17	10	2	0	1	0	0	0	1	0	1	0	1	0	3	7	10	0	3	2	2	novel		11LU022_TP	11LU022_NB	C	C																c.84G>T	p.=	p.L28L	ENST00000259455	1/19	30	21	9	29	29	0	strelka-mutect	GABBR2,synonymous_variant,p.=,ENST00000259455,NM_005458.7;GABBR2,upstream_gene_variant,,ENST00000637717,;	A	ENST00000259455	Transcript	synonymous_variant	544/5788	84/2826	28/941	L	ctG/ctT		1		-1	GABBR2	HGNC	HGNC:4507	protein_coding	YES	CCDS6736.1	ENSP00000259455	O75899	H9NIL8	UPI0000035832	NM_005458.7			1/19		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		rs1213177596	.												A	2	1	3	98708654	98708654	C	A	1	0	0	0	0	0	0	0	1	6027	697	25	2		2	GABBR2	9	98708654	Silent	SNP	C	11LU022_TP	5419290	98708654	39686063	521	1193											
TMEFF1	0	.	GRCh38	chr9	100550099	100550099	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcttctcttacagatacAgatgacactagtttgttggg	9	14	9	9	1	2	3	0	1	2	2	3	3	2	3	1	1	2	2	1	1	3	6			11LU022_TP	11LU022_NB	A	A																c.714A>T	p.=	p.T238T	ENST00000374879	7/10	80	59	21	75	75	0	strelka-varscan-mutect	TMEFF1,synonymous_variant,p.=,ENST00000374879,NM_003692.4;MSANTD3-TMEFF1,synonymous_variant,p.=,ENST00000502978,NM_001198812.1;	T	ENST00000374879	Transcript	synonymous_variant	1146/2611	714/1143	238/380	T	acA/acT	COSM1314320	1		1	TMEFF1	HGNC	HGNC:11866	protein_coding	YES	CCDS6750.1	ENSP00000364013	Q8IYR6		UPI000004ECA5	NM_003692.4			7/10		hmmpanther:PTHR10574											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	3	100550099	100550099	A	T	1	0	0	0	0	0	0	0	1	16457	202	7	4		4	TMEFF1	9	100550099	Silent	SNP	A	11LU022_TP	1841445	100550099	37844618	522	1194											
ABCA1	0	.	GRCh38	chr9	104837043	104837043	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcttggggctgagttcctcCcacatgccttccagatcatg	7	12	9	13	0	2	2	1	1	1	1	5	2	5	2	4	2	1	2	4	2	0	3			11LU022_TP	11LU022_NB	C	C																c.1248G>A	p.Trp416Ter	p.W416*	ENST00000374736	11/50	150	93	57	157	157	0	strelka-varscan-mutect	ABCA1,stop_gained,p.Trp416Ter,ENST00000374736,NM_005502.3;	T	ENST00000374736	Transcript	stop_gained	1643/10494	1248/6786	416/2261	W/*	tgG/tgA	COSM1243856	1		-1	ABCA1	HGNC	HGNC:29	protein_coding	YES	CCDS6762.1	ENSP00000363868	O95477		UPI000013E441	NM_005502.3			11/50		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF34											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	3	104837043	104837043	C	T	1	0	0	0	0	0	1	0	0	32	624	22	3		3	ABCA1	9	104837043	Nonsense_Mutation	SNP	C	11LU022_TP	4286944	104837043	33557674	523	1195											
ZNF462	0	.	GRCh38	chr9	106932476	106932476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcatgagaggagccacctgGccctggccatgtttacccgc	7	8	11	15	1	1	1	1	1	0	1	1	3	1	2	5	3	2	1	5	3	1	2	novel		11LU022_TP	11LU022_NB	G	G																c.6043G>T	p.Ala2015Ser	p.A2015S	ENST00000277225	5/13	343	231	112	321	321	0	strelka-varscan-mutect	ZNF462,missense_variant,p.Ala2015Ser,ENST00000277225,NM_021224.4;ZNF462,missense_variant,p.Ala958Ser,ENST00000374686,;ZNF462,missense_variant,p.Ala921Ser,ENST00000441147,;ZNF462,downstream_gene_variant,,ENST00000472574,;ZNF462,non_coding_transcript_exon_variant,,ENST00000497489,;ZNF462,upstream_gene_variant,,ENST00000479166,;ZNF462,upstream_gene_variant,,ENST00000469433,;ZNF462,upstream_gene_variant,,ENST00000471032,;ZNF462,downstream_gene_variant,,ENST00000480607,;	T	ENST00000277225	Transcript	missense_variant	6332/10414	6043/7521	2015/2506	A/S	Gcc/Tcc		1		1	ZNF462	HGNC	HGNC:21684	protein_coding	YES	CCDS35096.1	ENSP00000277225	Q96JM2		UPI0000470106	NM_021224.4	tolerated(0.09)		5/13		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF216																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	106932476	106932476	G	T	1	0	0	0	0	1	0	0	0	18497	1203	42	2		2	ZNF462	9	106932476	Missense_Mutation	SNP	G	11LU022_TP	2095433	106932476	31462241	524	1196											
ACTL7B	0	.	GRCh38	chr9	108855742	108855742	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggctctcccgcgtagccGcacttgcagtactgggagcc	5	8	12	16	4	1	0	0	0	1	0	3	1	1	1	3	2	4	5	3	2	2	3	rs770078766		11LU022_TP	11LU022_NB	G	G																c.189C>A	p.Cys63Ter	p.C63*	ENST00000374667	1/1	136	117	19	143	143	0	strelka-varscan-mutect	ACTL7B,stop_gained,p.Cys63Ter,ENST00000374667,NM_006686.3;	T	ENST00000374667	Transcript	stop_gained	1226/2379	189/1248	63/415	C/*	tgC/tgA	rs770078766	1		-1	ACTL7B	HGNC	HGNC:162	protein_coding	YES	CCDS6771.1	ENSP00000363799	Q9Y614	A0A140VKC6	UPI0000125053	NM_006686.3			1/1		Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF59,SMART_domains:SM00268,Superfamily_domains:SSF53067																	HIGH	1	SNV				1										PASS		rs770078766	.												T	4	4	3	108855742	108855742	G	T	1	0	0	0	0	0	1	0	0	245	1079	38	1		1	ACTL7B	9	108855742	Nonsense_Mutation	SNP	G	11LU022_TP	1923266	108855742	29538975	525	1197											
FRRS1L	0	.	GRCh38	chr9	109141542	109141542	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttatagaagtgctgtatgcgGaccctgccattgtcatcatg	9	13	10	9	1	2	1	2	0	0	1	2	2	2	2	2	1	3	2	2	1	4	4			11LU022_TP	11LU022_NB	G	G																c.663C>A	p.=	p.V221V	ENST00000561981	4/5	205	185	20	225	225	0	strelka-varscan-mutect	FRRS1L,synonymous_variant,p.=,ENST00000561981,NM_014334.2;	T	ENST00000561981	Transcript	synonymous_variant	663/8197	663/1035	221/344	V	gtC/gtA	COSM3925862	1		-1	FRRS1L	HGNC	HGNC:1362	protein_coding	YES	CCDS35098.1	ENSP00000477141	Q9P0K9		UPI000013D040	NM_014334.2			4/5		PROSITE_profiles:PS50836,hmmpanther:PTHR23130,hmmpanther:PTHR23130:SF65,Pfam_domain:PF03351,SMART_domains:SM00664											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	3	109141542	109141542	G	T	1	0	0	0	0	0	0	0	1	5932	1161	41	2		2	FRRS1L	9	109141542	Silent	SNP	G	11LU022_TP	285800	109141542	29253175	526	1198											
SVEP1	0	.	GRCh38	chr9	110407442	110407442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccattttcaggagcagtagGcaagtcacattcaattgaaa	14	10	9	8	0	3	1	3	1	0	0	3	2	3	2	1	2	1	3	1	2	4	5	novel		11LU022_TP	11LU022_NB	G	G																c.8158C>A	p.Pro2720Thr	p.P2720T	ENST00000374469	38/48	259	177	82	274	274	0	strelka-varscan-mutect	SVEP1,missense_variant,p.Pro2723Thr,ENST00000401783,;SVEP1,missense_variant,p.Pro2720Thr,ENST00000374469,NM_153366.3;	T	ENST00000374469	Transcript	missense_variant	8353/12194	8158/10716	2720/3571	P/T	Cct/Act		1		-1	SVEP1	HGNC	HGNC:15985	protein_coding	YES	CCDS48004.1	ENSP00000363593	Q4LDE5		UPI000153DA74	NM_153366.3	deleterious(0.02)		38/48		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		rs1370243351	.												T	3	4	3	110407442	110407442	G	T	1	0	0	0	0	1	0	0	0	15805	1203	42	2		2	SVEP1	9	110407442	Missense_Mutation	SNP	G	11LU022_TP	1265900	110407442	27987275	527	1199											
ASTN2	0	.	GRCh38	chr9	116725903	116725903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggatgaaggacagcagctCctcccgactgctctccttgg	7	9	11	14	1	1	1	0	1	1	0	4	4	3	3	3	3	3	3	3	3	1	1			11LU022_TP	11LU022_NB	C	C																c.2521G>A	p.Glu841Lys	p.E841K	ENST00000361209	15/22	130	105	25	125	125	0	strelka-varscan-mutect	ASTN2,missense_variant,p.Glu892Lys,ENST00000313400,;ASTN2,missense_variant,p.Glu841Lys,ENST00000361209,NM_014010.4;ASTN2,missense_variant,p.Glu615Lys,ENST00000373986,;ASTN2,5_prime_UTR_variant,,ENST00000361477,NM_198187.3;	T	ENST00000361209	Transcript	missense_variant	2653/4622	2521/3867	841/1288	E/K	Gag/Aag	COSM4538242,COSM4538243	1		-1	ASTN2	HGNC	HGNC:17021	protein_coding	YES	CCDS6815.1	ENSP00000354504	O75129		UPI00002116D7	NM_014010.4	deleterious(0)		15/22		Pfam_domain:PF01823,hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF2,SMART_domains:SM00457											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	3	116725903	116725903	C	T	1	0	0	0	0	1	0	0	0	1212	864	30	3		3	ASTN2	9	116725903	Missense_Mutation	SNP	C	11LU022_TP	6318461	116725903	21668814	528	1200											
TLR4	0	.	GRCh38	chr9	117713650	117713650	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggacctctctcagtgtcaaCtggagcagttgtctccaaca	9	11	9	12	0	4	0	2	0	2	0	6	2	4	2	2	2	3	2	2	2	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.1522C>G	p.Leu508Val	p.L508V	ENST00000355622	3/3	245	214	31	211	211	0	strelka-varscan-mutect	TLR4,missense_variant,p.Leu508Val,ENST00000355622,NM_138554.4;TLR4,missense_variant,p.Leu468Val,ENST00000394487,NM_003266.3;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,downstream_gene_variant,,ENST00000490685,;	G	ENST00000355622	Transcript	missense_variant	1623/4844	1522/2520	508/839	L/V	Ctg/Gtg		1		1	TLR4	HGNC	HGNC:11850	protein_coding	YES	CCDS6818.1	ENSP00000363089	O00206		UPI0000137057	NM_138554.4	tolerated(0.08)		3/3		PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	117713650	117713650	C	G	1	0	0	0	0	1	0	0	0	16399	564	20	4		4	TLR4	9	117713650	Missense_Mutation	SNP	C	11LU022_TP	987747	117713650	20681067	529	1201											
TLR4	0	.	GRCh38	chr9	117713903	117713903	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaccagagtttcctgcAatggatcaaggaccagaggc	13	7	11	10	0	1	3	1	1	0	2	2	5	2	5	3	3	2	2	3	3	3	1	novel		11LU022_TP	11LU022_NB	A	A																c.1775A>T	p.Gln592Leu	p.Q592L	ENST00000355622	3/3	157	144	13	198	198	0	strelka-varscan-mutect	TLR4,missense_variant,p.Gln592Leu,ENST00000355622,NM_138554.4;TLR4,missense_variant,p.Gln552Leu,ENST00000394487,NM_003266.3;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,downstream_gene_variant,,ENST00000490685,;	T	ENST00000355622	Transcript	missense_variant	1876/4844	1775/2520	592/839	Q/L	cAa/cTa		1		1	TLR4	HGNC	HGNC:11850	protein_coding	YES	CCDS6818.1	ENSP00000363089	O00206		UPI0000137057	NM_138554.4	tolerated(0.17)		3/3		hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,Gene3D:3.80.10.10,SMART_domains:SM00082																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	117713903	117713903	A	T	1	0	0	0	0	1	0	0	0	16399	130	5	4		4	TLR4	9	117713903	Missense_Mutation	SNP	A	11LU022_TP	253	117713903	20680814	530	1202											
MEGF9	0	.	GRCh38	chr9	120612533	120612533	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattttcctggcagtttaaaCaagcacctaaaagaagcaaa	17	10	6	8	0	0	1	0	0	0	1	1	1	1	1	2	1	3	4	2	1	8	6	novel		11LU022_TP	11LU022_NB	C	C																c.950G>T	p.Cys317Phe	p.C317F	ENST00000373930	4/6	67	60	7	82	82	0	strelka-varscan-mutect	MEGF9,missense_variant,p.Cys317Phe,ENST00000373930,NM_001080497.2;	A	ENST00000373930	Transcript	missense_variant	1062/6298	950/1809	317/602	C/F	tGt/tTt		1		-1	MEGF9	HGNC	HGNC:3234	protein_coding	YES	CCDS48010.2	ENSP00000363040	Q9H1U4		UPI000045779F	NM_001080497.2	deleterious(0)		4/6		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	3	120612533	120612533	C	A	1	0	0	0	0	1	0	0	0	9404	478	17	2		2	MEGF9	9	120612533	Missense_Mutation	SNP	C	11LU022_TP	2898630	120612533	17782184	531	1203											
OR1N1	0	.	GRCh38	chr9	122526580	122526580	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcagaggtgggaactgcaGgtggaaaaggccttgcccac	11	5	15	10	1	0	1	0	0	0	1	0	3	0	3	2	5	3	2	2	5	3	1	novel		11LU022_TP	11LU022_NB	G	G																c.714C>A	p.=	p.T238T	ENST00000304880	1/1	76	50	26	85	85	0	varscan-mutect	OR1N1,synonymous_variant,p.=,ENST00000619659,;OR1N1,synonymous_variant,p.=,ENST00000304880,NM_012363.1;	T	ENST00000304880	Transcript	synonymous_variant	714/936	714/936	238/311	T	acC/acA		1		-1	OR1N1	HGNC	HGNC:8221	protein_coding	YES	CCDS6844.1	ENSP00000306974	Q8NGS0	A0A126GW31	UPI0000041D08	NM_012363.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF218,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	3	122526580	122526580	G	T	1	0	0	0	0	0	0	0	1	11047	987	35	2		2	OR1N1	9	122526580	Silent	SNP	G	11LU022_TP	1914047	122526580	15868137	532	1204											
OR1N2	0	.	GRCh38	chr9	122553553	122553553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatgtttggtggccttgaCaactgcctgctggctgtgat	5	15	12	9	0	0	2	0	2	0	0	0	2	0	2	2	3	3	3	2	3	2	3	rs778235748		11LU022_TP	11LU022_NB	C	C																c.384C>A	p.Asp128Glu	p.D128E	ENST00000373688	1/1	154	139	15	154	154	0	strelka-varscan-mutect	OR1N2,missense_variant,p.Asp128Glu,ENST00000373688,NM_001004457.1;OR1N2,missense_variant,p.Asp110Glu,ENST00000616791,;	A	ENST00000373688	Transcript	missense_variant	442/1103	384/993	128/330	D/E	gaC/gaA	rs778235748	1		1	OR1N2	HGNC	HGNC:15111	protein_coding	YES	CCDS35123.1	ENSP00000362792	Q8NGR9		UPI000004618C	NM_001004457.1	tolerated(0.12)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF156,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs778235748	.												A	3	1	3	122553553	122553553	C	A	1	0	0	0	0	1	0	0	0	11048	477	17	2		2	OR1N2	9	122553553	Missense_Mutation	SNP	C	11LU022_TP	26973	122553553	15841164	533	1205											
OR5C1	0	.	GRCh38	chr9	122789563	122789563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccatctgtggcttcatcCagacagccacggtgttagct	7	11	10	13	2	2	1	1	0	1	1	4	1	3	1	3	2	2	3	3	2	1	2	novel		11LU022_TP	11LU022_NB	C	C																c.631C>A	p.Gln211Lys	p.Q211K	ENST00000373680	1/1	52	35	17	69	69	0	strelka-varscan-mutect	OR5C1,missense_variant,p.Gln211Lys,ENST00000373680,NM_001001923.1;	A	ENST00000373680	Transcript	missense_variant	631/963	631/963	211/320	Q/K	Cag/Aag		1		1	OR5C1	HGNC	HGNC:8331	protein_coding	YES	CCDS35131.1	ENSP00000362784	Q8NGR4	A0A126GW42	UPI0000061E7B	NM_001001923.1	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF119,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	3	122789563	122789563	C	A	1	0	0	0	0	1	0	0	0	11224	595	21	2		2	OR5C1	9	122789563	Missense_Mutation	SNP	C	11LU022_TP	236010	122789563	15605154	534	1206											
HSPA5	0	.	GRCh38	chr9	125238621	125238621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagagagcacaccagcCtggacagcagcaccatacgc	13	3	9	16	1	1	1	1	0	0	1	1	3	1	2	4	1	5	3	4	1	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.1203G>T	p.Gln401His	p.Q401H	ENST00000324460	6/8	144	129	15	165	165	0	strelka-varscan-mutect	HSPA5,missense_variant,p.Gln401His,ENST00000324460,NM_005347.4;RABEPK,downstream_gene_variant,,ENST00000628863,;RABEPK,downstream_gene_variant,,ENST00000373538,NM_005833.3;RABEPK,downstream_gene_variant,,ENST00000394125,NM_001174152.1;RABEPK,downstream_gene_variant,,ENST00000259460,NM_001174153.1;RP11-65N13.8,upstream_gene_variant,,ENST00000468244,;	A	ENST00000324460	Transcript	missense_variant	1407/3908	1203/1965	401/654	Q/H	caG/caT		1		-1	HSPA5	HGNC	HGNC:5238	protein_coding	YES	CCDS6863.1	ENSP00000324173	P11021	V9HWB4	UPI0000001061	NM_005347.4	deleterious_low_confidence(0)		6/8		Pfam_domain:PF00012,Prints_domain:PR00301,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF157,Low_complexity_(Seg):seg,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	125238621	125238621	C	A	1	0	0	0	0	1	0	0	0	7310	680	24	2		2	HSPA5	9	125238621	Missense_Mutation	SNP	C	11LU022_TP	2449058	125238621	13156096	535	1207											
LMX1B	0	.	GRCh38	chr9	126696393	126696393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggctccctgcaggcccGcgtggggaaccccatcgacc	5	5	14	17	4	0	0	0	0	0	0	2	2	1	1	5	4	2	2	5	4	1	0	rs143906016		11LU022_TP	11LU022_NB	G	G																c.1163G>T	p.Arg388Leu	p.R388L	ENST00000355497	8/8	255	173	82	305	305	0	strelka-varscan-mutect	LMX1B,missense_variant,p.Arg388Leu,ENST00000355497,NM_001174146.1;LMX1B,missense_variant,p.Arg384Leu,ENST00000373474,NM_001174147.1;LMX1B,missense_variant,p.Arg365Leu,ENST00000561065,;LMX1B,missense_variant,p.Arg377Leu,ENST00000526117,NM_002316.3;	T	ENST00000355497	Transcript	missense_variant	1170/5809	1163/1221	388/406	R/L	cGc/cTc	rs143906016	1		1	LMX1B	HGNC	HGNC:6654	protein_coding	YES	CCDS55343.1	ENSP00000347684	O60663		UPI0001CE94D0	NM_001174146.1	deleterious(0.04)		8/8		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF96																	MODERATE	1	SNV	1			1										PASS		rs143906016	.												T	3	4	3	126696393	126696393	G	T	1	0	0	0	0	1	0	0	0	8789	1087	38	1		1	LMX1B	9	126696393	Missense_Mutation	SNP	G	11LU022_TP	1457772	126696393	11698324	536	1208											
FNBP1	0	.	GRCh38	chr9	129900053	129900053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatccgtggccagcacCttcatctcactctcctgact	9	11	5	16	1	4	1	3	1	2	0	7	1	5	1	4	1	1	1	4	1	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.1599G>T	p.Lys533Asn	p.K533N	ENST00000446176	15/17	60	42	18	61	60	1	strelka-varscan-mutect	FNBP1,missense_variant,p.Lys528Asn,ENST00000420781,;FNBP1,missense_variant,p.Lys533Asn,ENST00000446176,NM_015033.2;FNBP1,missense_variant,p.Lys467Asn,ENST00000443566,;FNBP1,missense_variant,p.Lys480Asn,ENST00000449089,;FNBP1,missense_variant,p.Lys504Asn,ENST00000355681,;FNBP1,non_coding_transcript_exon_variant,,ENST00000478129,;FNBP1,non_coding_transcript_exon_variant,,ENST00000462766,;	A	ENST00000446176	Transcript	missense_variant	1786/5393	1599/1854	533/617	K/N	aaG/aaT		1		-1	FNBP1	HGNC	HGNC:17069	protein_coding	YES	CCDS48040.1	ENSP00000413625	Q96RU3		UPI000022408C	NM_015033.2	tolerated(0.12)		15/17		hmmpanther:PTHR10663:SF157,hmmpanther:PTHR10663																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	129900053	129900053	C	A	1	0	0	0	0	1	0	0	0	5821	680	24	2		2	FNBP1	9	129900053	Missense_Mutation	SNP	C	11LU022_TP	3203660	129900053	8494664	537	1209											
FNBP1	0	.	GRCh38	chr9	129900074	129900074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctcactctcctgactCtgctcctctgtgtaactgcc	5	15	5	16	0	5	1	2	1	4	0	8	1	6	1	3	0	3	2	3	0	1	2	novel		11LU022_TP	11LU022_NB	C	C																c.1578G>T	p.Gln526His	p.Q526H	ENST00000446176	15/17	55	51	4	53	53	0	strelka-varscan-mutect	FNBP1,missense_variant,p.Gln521His,ENST00000420781,;FNBP1,missense_variant,p.Gln526His,ENST00000446176,NM_015033.2;FNBP1,missense_variant,p.Gln460His,ENST00000443566,;FNBP1,missense_variant,p.Gln473His,ENST00000449089,;FNBP1,missense_variant,p.Gln497His,ENST00000355681,;FNBP1,non_coding_transcript_exon_variant,,ENST00000478129,;FNBP1,non_coding_transcript_exon_variant,,ENST00000462766,;	A	ENST00000446176	Transcript	missense_variant	1765/5393	1578/1854	526/617	Q/H	caG/caT		1		-1	FNBP1	HGNC	HGNC:17069	protein_coding	YES	CCDS48040.1	ENSP00000413625	Q96RU3		UPI000022408C	NM_015033.2	tolerated(0.18)		15/17		hmmpanther:PTHR10663:SF157,hmmpanther:PTHR10663																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	129900074	129900074	C	A	1	0	0	0	0	1	0	0	0	5821	912	32	2		2	FNBP1	9	129900074	Missense_Mutation	SNP	C	11LU022_TP	21	129900074	8494643	538	1210											
FUBP3	0	.	GRCh38	chr9	130622755	130622755	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgtaataggaagaaacggGgaaatgatcaaaaagatcca	20	7	10	4	1	1	3	1	1	0	2	2	5	2	5	1	3	1	1	1	3	7	3	novel		11LU022_TP	11LU022_NB	G	G																c.819G>T	p.=	p.G273G	ENST00000319725	10/19	88	61	27	114	114	0	strelka-varscan-mutect	FUBP3,synonymous_variant,p.=,ENST00000319725,NM_003934.1;MIR6856,upstream_gene_variant,,ENST00000613330,;FUBP3,non_coding_transcript_exon_variant,,ENST00000487406,;	T	ENST00000319725	Transcript	synonymous_variant	894/3124	819/1719	273/572	G	ggG/ggT		1		1	FUBP3	HGNC	HGNC:4005	protein_coding	YES	CCDS43893.1	ENSP00000318177	Q96I24	A0A024R8A7	UPI00001C1EAA	NM_003934.1			10/19		PROSITE_profiles:PS50084,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF100,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791																	LOW	1	SNV	1			1										PASS		rs1351653122	.												T	2	4	3	130622755	130622755	G	T	1	0	0	0	0	0	0	0	1	5964	1219	43	2		2	FUBP3	9	130622755	Silent	SNP	G	11LU022_TP	722681	130622755	7771962	539	1211											
FUBP3	0	.	GRCh38	chr9	130631569	130631569	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccacaggggaccaatctcGgagcacctggagccttcgga	9	5	12	15	2	1	0	0	0	1	0	3	4	1	4	5	5	2	1	5	5	1	1	rs549143328		11LU022_TP	11LU022_NB	G	G																c.1291G>T	p.Gly431Ter	p.G431*	ENST00000319725	14/19	170	156	14	184	184	0	strelka-varscan-mutect	FUBP3,stop_gained,p.Gly431Ter,ENST00000319725,NM_003934.1;FUBP3,non_coding_transcript_exon_variant,,ENST00000487406,;FUBP3,upstream_gene_variant,,ENST00000492199,;FUBP3,upstream_gene_variant,,ENST00000472006,;	T	ENST00000319725	Transcript	stop_gained	1366/3124	1291/1719	431/572	G/*	Gga/Tga	rs549143328	1		1	FUBP3	HGNC	HGNC:4005	protein_coding	YES	CCDS43893.1	ENSP00000318177	Q96I24	A0A024R8A7	UPI00001C1EAA	NM_003934.1			14/19		hmmpanther:PTHR10288:SF100,hmmpanther:PTHR10288																	HIGH	1	SNV	1			1										PASS		rs549143328	.												T	4	4	3	130631569	130631569	G	T	1	0	0	0	0	0	1	0	0	5964	1117	39	1		1	FUBP3	9	130631569	Nonsense_Mutation	SNP	G	11LU022_TP	8814	130631569	7763148	540	1212											
PRRC2B	0	.	GRCh38	chr9	131474473	131474473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgaaagctctttctctGcctcactcggaagggcaggg	9	9	13	10	1	3	1	1	1	2	0	5	3	3	3	1	4	2	2	1	4	3	1	novel		11LU022_TP	11LU022_NB	G	G																c.2344G>A	p.Ala782Thr	p.A782T	ENST00000357304	15/31	67	58	9	103	103	0	strelka-varscan-mutect	PRRC2B,missense_variant,p.Ala782Thr,ENST00000357304,NM_013318.3;PRRC2B,missense_variant,p.Ala51Thr,ENST00000456307,;PRRC2B,intron_variant,,ENST00000405995,;PRRC2B,upstream_gene_variant,,ENST00000451855,;PRRC2B,downstream_gene_variant,,ENST00000422467,;	A	ENST00000357304	Transcript	missense_variant	2399/11042	2344/6690	782/2229	A/T	Gcc/Acc		1		1	PRRC2B	HGNC	HGNC:28121	protein_coding	YES	CCDS48044.1	ENSP00000349856	Q5JSZ5		UPI00002374A3	NM_013318.3	tolerated(0.14)		15/31		hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	131474473	131474473	G	A	1	0	0	0	0	1	0	0	0	12749	1319	46	3		3	PRRC2B	9	131474473	Missense_Mutation	SNP	G	11LU022_TP	842904	131474473	6920244	541	1213											
CEL	0	.	GRCh38	chr9	133062007	133062007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggctgatgctcaccatggGgcgcctgcaactggttgtgt	6	10	15	10	1	1	1	1	1	0	0	1	2	1	1	2	4	3	4	2	4	1	1	novel		11LU022_TP	11LU022_NB	G	G																c.14G>T	p.Gly5Val	p.G5V	ENST00000372080	1/11	228	190	38	253	253	0	strelka-varscan-mutect	CEL,missense_variant,p.Gly5Val,ENST00000372080,NM_001807.4;CEL,missense_variant,p.Gly5Val,ENST00000621209,;GTF3C5,downstream_gene_variant,,ENST00000372097,NM_012087.3;GTF3C5,downstream_gene_variant,,ENST00000372108,NM_001122823.1;GTF3C5,downstream_gene_variant,,ENST00000372099,NM_001286709.1;GTF3C5,downstream_gene_variant,,ENST00000342018,;GTF3C5,downstream_gene_variant,,ENST00000489842,;	T	ENST00000372080	Transcript	missense_variant	30/2384	14/2271	5/756	G/V	gGg/gTg		1		1	CEL	HGNC	HGNC:1848	protein_coding	YES	CCDS43896.1	ENSP00000361151		X6R868	UPI000013E8C6	NM_001807.4	deleterious(0)		1/11		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF139																	MODERATE		SNV	5			1										PASS		rs1243599392	.												T	3	4	3	133062007	133062007	G	T	1	0	0	0	0	1	0	0	0	2916	1232	43	2		2	CEL	9	133062007	Missense_Mutation	SNP	G	11LU022_TP	1587534	133062007	5332710	542	1214											
CEL	0	.	GRCh38	chr9	133071467	133071467	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgcccacgggtgactccggGgccccccccgtgccgcccac	3	3	12	23	5	0	1	0	1	0	0	1	1	1	1	9	3	1	0	9	3	0	0	rs598333		11LU022_TP	11LU022_NB	G	G																c.1974G>C	p.=	p.G658G	ENST00000372080	11/11	51	47	4	59	59	0	varscan-mutect	CEL,synonymous_variant,p.=,ENST00000372080,NM_001807.4;CEL,intron_variant,,ENST00000621209,;	C	ENST00000372080	Transcript	synonymous_variant	1990/2384	1974/2271	658/756	G	ggG/ggC	rs598333,COSM4962289	1		1	CEL	HGNC	HGNC:1848	protein_coding	YES	CCDS43896.1	ENSP00000361151		X6R868	UPI000013E8C6	NM_001807.4			11/11		Pfam_domain:PF16058											0,1						LOW	1	SNV	5		0,1	1										PASS		rs598333	.												C	2	2	3	133071467	133071467	G	C	1	0	0	0	0	0	0	0	1	2916	1219	43	4		4	CEL	9	133071467	Silent	SNP	G	11LU022_TP	9460	133071467	5323250	543	1215											
SLC2A6	0	.	GRCh38	chr9	133478398	133478398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgaaggtggccaggaacacCcttttgttctgcagggtcct	7	10	13	11	1	1	0	0	0	1	0	2	2	2	1	3	4	2	2	3	4	2	3	novel		11LU022_TP	11LU022_NB	C	C																c.111G>T	p.Arg37Ser	p.R37S	ENST00000371899	2/10	102	75	27	181	181	0	strelka-varscan-mutect	SLC2A6,missense_variant,p.Arg37Ser,ENST00000371899,NM_017585.3;SLC2A6,missense_variant,p.Arg37Ser,ENST00000371897,NM_001145099.1;SLC2A6,missense_variant,p.Arg37Ser,ENST00000432868,;SLC2A6,intron_variant,,ENST00000414172,;SLC2A6,non_coding_transcript_exon_variant,,ENST00000485978,;	A	ENST00000371899	Transcript	missense_variant	189/2528	111/1524	37/507	R/S	agG/agT		1		-1	SLC2A6	HGNC	HGNC:11011	protein_coding	YES	CCDS6975.1	ENSP00000360966	Q9UGQ3		UPI0000001BE8	NM_017585.3	deleterious(0.01)		2/10		hmmpanther:PTHR23500,hmmpanther:PTHR23500:SF111,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00879,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	133478398	133478398	C	A	1	0	0	0	0	1	0	0	0	14819	622	22	2		2	SLC2A6	9	133478398	Missense_Mutation	SNP	C	11LU022_TP	406931	133478398	4916319	544	1216											
TMEM8C	0	.	GRCh38	chr9	133520240	133520240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactccaggatgtcgtgacGcatgaagcacagcacagaca	14	6	10	11	2	0	3	0	2	0	1	2	4	1	4	1	1	3	3	1	1	2	1	rs758679039		11LU022_TP	11LU022_NB	G	G																c.184C>A	p.Arg62Ser	p.R62S	ENST00000339996	2/5	178	124	54	260	260	0	strelka-varscan-mutect	TMEM8C,missense_variant,p.Arg62Ser,ENST00000339996,NM_001080483.2;TMEM8C,non_coding_transcript_exon_variant,,ENST00000413714,;	T	ENST00000339996	Transcript	missense_variant	286/818	184/666	62/221	R/S	Cgt/Agt	rs758679039,COSM1229761	1		-1	TMEM8C	HGNC	HGNC:33778	protein_coding	YES	CCDS35170.1	ENSP00000419712	A6NI61		UPI00003676C5	NM_001080483.2	tolerated(0.54)		2/5		hmmpanther:PTHR14319,hmmpanther:PTHR14319:SF5,Pfam_domain:PF12036											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs758679039	.												T	3	4	3	133520240	133520240	G	T	1	0	0	0	0	1	0	0	0	16693	1087	38	1		1	TMEM8C	9	133520240	Missense_Mutation	SNP	G	11LU022_TP	41842	133520240	4874477	545	1217											
COL5A1	0	.	GRCh38	chr9	134730298	134730298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagtgaaggggctgggaaGgaagaggacgtcggcatcgg	11	4	19	7	3	0	2	0	1	0	1	2	5	0	5	1	7	0	2	1	7	3	0	rs769516996		11LU022_TP	11LU022_NB	G	G																c.987G>T	p.Lys329Asn	p.K329N	ENST00000371817	7/66	508	462	46	653	653	0	strelka-varscan-mutect	COL5A1,missense_variant,p.Lys329Asn,ENST00000371817,NM_000093.4;COL5A1,missense_variant,p.Lys329Asn,ENST00000618395,NM_001278074.1;COL5A1,upstream_gene_variant,,ENST00000469093,;	T	ENST00000371817	Transcript	missense_variant	1401/8471	987/5517	329/1838	K/N	aaG/aaT	rs769516996	1		1	COL5A1	HGNC	HGNC:2209	protein_coding	YES	CCDS6982.1	ENSP00000360882	P20908	A0A024R8E5	UPI0000210EE3	NM_000093.4	tolerated(0.48)		7/66																			MODERATE	1	SNV	1			1										PASS		rs769516996	.												T	3	4	3	134730298	134730298	G	T	1	0	0	0	0	1	0	0	0	3485	991	35	2		2	COL5A1	9	134730298	Missense_Mutation	SNP	G	11LU022_TP	1210058	134730298	3664419	546	1218											
COL5A1	0	.	GRCh38	chr9	134763712	134763712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtgacgacggagaagttgGgcccagggggctgcctgggg	6	5	22	8	2	0	2	0	1	0	1	0	4	0	2	2	7	1	2	2	7	1	1			11LU022_TP	11LU022_NB	G	G																c.2009G>T	p.Gly670Val	p.G670V	ENST00000371817	20/66	182	166	16	245	245	0	strelka-varscan-mutect	COL5A1,missense_variant,p.Gly670Val,ENST00000371817,NM_000093.4;COL5A1,missense_variant,p.Gly670Val,ENST00000618395,NM_001278074.1;	T	ENST00000371817	Transcript	missense_variant	2423/8471	2009/5517	670/1838	G/V	gGg/gTg	COSM239410	1		1	COL5A1	HGNC	HGNC:2209	protein_coding	YES	CCDS6982.1	ENSP00000360882	P20908	A0A024R8E5	UPI0000210EE3	NM_000093.4	deleterious(0.02)		20/66		Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		rs1025918128	.												T	3	4	3	134763712	134763712	G	T	1	0	0	0	0	1	0	0	0	3485	1232	43	2		2	COL5A1	9	134763712	Missense_Mutation	SNP	G	11LU022_TP	33414	134763712	3631005	547	1219											
SOHLH1	0	.	GRCh38	chr9	135699456	135699456	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccgggtagggctcggagcaCcgggacgccatgaactcgca	8	5	15	13	5	0	1	0	1	0	0	3	3	1	3	3	4	2	4	3	4	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.12G>T	p.=	p.R4R	ENST00000425225	1/8	475	321	154	621	621	0	strelka-varscan-mutect	SOHLH1,synonymous_variant,p.=,ENST00000298466,NM_001012415.2;SOHLH1,synonymous_variant,p.=,ENST00000425225,NM_001101677.1;KCNT1,upstream_gene_variant,,ENST00000628528,NM_001272003.1;KCNT1,upstream_gene_variant,,ENST00000371757,NM_020822.2;KCNT1,upstream_gene_variant,,ENST00000487664,;KCNT1,upstream_gene_variant,,ENST00000636274,;KCNT1,upstream_gene_variant,,ENST00000636613,;KCNT1,upstream_gene_variant,,ENST00000460750,;	A	ENST00000425225	Transcript	synonymous_variant	73/1411	12/1164	4/387	R	cgG/cgT		1		-1	SOHLH1	HGNC	HGNC:27845	protein_coding	YES	CCDS48054.1	ENSP00000404438	Q5JUK2		UPI0001AE6F1C	NM_001101677.1			1/8		PROSITE_profiles:PS51257,hmmpanther:PTHR16223,hmmpanther:PTHR16223:SF14																	LOW		SNV	5			1										PASS		rs1195631243	.												A	2	1	3	135699456	135699456	C	A	1	0	0	0	0	0	0	0	1	15246	494	18	2		2	SOHLH1	9	135699456	Silent	SNP	C	11LU022_TP	935744	135699456	2695261	548	1220											
CAMSAP1	0	.	GRCh38	chr9	135821370	135821370	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccttccggaacgggaattCcggccttgacccagccgggg	6	6	15	14	4	0	1	0	1	0	0	2	3	2	3	6	6	2	0	6	6	2	3	novel		11LU022_TP	11LU022_NB	C	C																c.3291G>T	p.=	p.R1097R	ENST00000389532	11/17	86	59	27	144	144	0	strelka-varscan-mutect	CAMSAP1,synonymous_variant,p.=,ENST00000389532,NM_015447.3;CAMSAP1,synonymous_variant,p.=,ENST00000312405,;CAMSAP1,synonymous_variant,p.=,ENST00000409386,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000483991,;CAMSAP1,upstream_gene_variant,,ENST00000493088,;CAMSAP1,upstream_gene_variant,,ENST00000482664,;CAMSAP1,upstream_gene_variant,,ENST00000487868,;	A	ENST00000389532	Transcript	synonymous_variant	3356/7696	3291/4809	1097/1602	R	cgG/cgT		1		-1	CAMSAP1	HGNC	HGNC:19946	protein_coding	YES	CCDS35176.2	ENSP00000374183	Q5T5Y3		UPI0000EDA283	NM_015447.3			11/17		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF3																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	3	135821370	135821370	C	A	1	0	0	0	0	0	0	0	1	2303	842	30	2		2	CAMSAP1	9	135821370	Silent	SNP	C	11LU022_TP	121914	135821370	2573347	549	1221											
C9orf69	0	.	GRCh38	chr9	136116525	136116525	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaccagcccaggcccccgaCcagcagcatggtgacgtgga	9	3	13	16	2	0	1	0	1	0	0	0	3	0	2	5	3	3	3	5	3	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.376G>T	p.Val126Phe	p.V126F	ENST00000418388	2/2	109	99	10	171	171	0	strelka-varscan-mutect	C9orf69,missense_variant,p.Val126Phe,ENST00000418388,NM_152833.2;C9orf69,missense_variant,p.Val126Phe,ENST00000561457,NM_001256526.1;C9orf69,downstream_gene_variant,,ENST00000447934,;C9orf69,downstream_gene_variant,,ENST00000448040,;C9orf69,missense_variant,p.Val126Phe,ENST00000557985,;	A	ENST00000418388	Transcript	missense_variant	879/2823	376/420	126/139	V/F	Gtc/Ttc		1		-1	C9orf69	HGNC	HGNC:31009	protein_coding	YES	CCDS59155.1	ENSP00000453019	H0YL14		UPI0000210F31	NM_152833.2	deleterious(0.01)		2/2		hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF59,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	136116525	136116525	C	A	1	0	0	0	0	1	0	0	0	2189	507	18	2		2	C9orf69	9	136116525	Missense_Mutation	SNP	C	11LU022_TP	295155	136116525	2278192	550	1222											
CACNA1B	0	.	GRCh38	chr9	138053909	138053909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcttgattgtctacatgCtcttcatgttcatatttgcc	8	18	5	10	0	5	1	2	1	3	0	5	1	5	1	1	0	3	2	1	0	2	7			11LU022_TP	11LU022_NB	C	C																c.3871C>T	p.Leu1291Phe	p.L1291F	ENST00000371372	26/47	153	115	38	179	179	0	strelka-varscan-mutect	CACNA1B,missense_variant,p.Leu1291Phe,ENST00000371372,NM_000718.3;CACNA1B,missense_variant,p.Leu1291Phe,ENST00000371363,;CACNA1B,missense_variant,p.Leu1292Phe,ENST00000371355,;CACNA1B,missense_variant,p.Leu1292Phe,ENST00000371357,;CACNA1B,missense_variant,p.Leu1291Phe,ENST00000277549,;CACNA1B,missense_variant,p.Leu1291Phe,ENST00000277551,NM_001243812.1;	T	ENST00000371372	Transcript	missense_variant	4016/9790	3871/7020	1291/2339	L/F	Ctc/Ttc	COSM3906204	1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3	tolerated(0.05)		26/47		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	3	138053909	138053909	C	T	1	0	0	0	0	1	0	0	0	2227	797	28	3		3	CACNA1B	9	138053909	Missense_Mutation	SNP	C	11LU022_TP	1937384	138053909	340808	551	1223											
FBXO18	0	.	GRCh38	chr10	5903154	5903154	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtctctatcctaaaccgAgaacaaaaagagggagtagg	16	7	11	7	1	1	2	0	0	1	2	3	4	2	3	2	3	2	1	2	3	7	3			11LU022_TP	11LU022_NB	A	A																c.289A>T	p.Arg97Ter	p.R97*	ENST00000379999	3/22	90	73	17	90	90	0	strelka-varscan-mutect	FBXO18,stop_gained,p.Arg97Ter,ENST00000379999,NM_032807.4;FBXO18,stop_gained,p.Arg46Ter,ENST00000362091,NM_178150.2;FBXO18,5_prime_UTR_variant,,ENST00000397269,NM_001258452.1,NM_001258453.1;FBXO18,non_coding_transcript_exon_variant,,ENST00000462507,;FBXO18,intron_variant,,ENST00000470089,;FBXO18,upstream_gene_variant,,ENST00000469009,;FBXO18,upstream_gene_variant,,ENST00000494526,;	T	ENST00000379999	Transcript	stop_gained	393/3702	289/3285	97/1094	R/*	Aga/Tga	COSM4918230	1		1	FBXO18	HGNC	HGNC:13620	protein_coding	YES	CCDS7073.1	ENSP00000369335	Q8NFZ0		UPI000019AB6F	NM_032807.4			3/22													1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	3	5903154	5903154	A	T	1	0	0	0	0	0	1	0	0	5594	296	11	4		4	FBXO18	10	5903154	Nonsense_Mutation	SNP	A	11LU022_TP		5903154	127894268	552	1224											
SFMBT2	0	.	GRCh38	chr10	7172565	7172565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgaaaatggatttccgtCgcttcctccgcctggcgggt	6	10	12	13	5	0	0	0	0	0	0	4	2	3	1	4	3	0	2	4	3	2	2			11LU022_TP	11LU022_NB	C	C																c.2081G>T	p.Arg694Leu	p.R694L	ENST00000397167	18/21	229	194	35	270	270	0	strelka-varscan-mutect	SFMBT2,missense_variant,p.Arg694Leu,ENST00000397167,NM_001029880.2;SFMBT2,missense_variant,p.Arg694Leu,ENST00000361972,NM_001018039.1;	A	ENST00000397167	Transcript	missense_variant	2274/8024	2081/2685	694/894	R/L	cGa/cTa	COSM5066782	1		-1	SFMBT2	HGNC	HGNC:20256	protein_coding	YES	CCDS31138.1	ENSP00000380353	Q5VUG0		UPI00001C1EDF	NM_001029880.2	deleterious(0)		18/21		Low_complexity_(Seg):seg											1						MODERATE	1	SNV	5		1	1										PASS		rs1415368617	.												A	3	1	3	7172565	7172565	C	A	1	0	0	0	0	1	0	0	0	14436	884	31	1		1	SFMBT2	10	7172565	Missense_Mutation	SNP	C	11LU022_TP	1269411	7172565	126624857	553	1225											
FRMD4A	0	.	GRCh38	chr10	13740214	13740214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcactgcataatagtgaaCcccgtaggttgggagagact	11	10	11	9	1	1	2	1	1	0	1	1	4	1	3	2	2	2	3	2	2	4	5	rs376633724		11LU022_TP	11LU022_NB	C	C																c.652G>T	p.Val218Phe	p.V218F	ENST00000357447	11/25	179	159	20	148	148	0	strelka-varscan-mutect	FRMD4A,missense_variant,p.Val218Phe,ENST00000357447,NM_001318336.1,NM_018027.3;FRMD4A,missense_variant,p.Val251Phe,ENST00000264546,;RP11-353M9.1,intron_variant,,ENST00000449462,;FRMD4A,non_coding_transcript_exon_variant,,ENST00000342409,;	A	ENST00000357447	Transcript	missense_variant	1021/6821	652/3120	218/1039	V/F	Gtt/Ttt	rs376633724	1		-1	FRMD4A	HGNC	HGNC:25491	protein_coding	YES	CCDS7101.1	ENSP00000350032	Q9P2Q2		UPI0000366665	NM_001318336.1,NM_018027.3	deleterious(0)		11/25		PROSITE_profiles:PS50057,hmmpanther:PTHR23281:SF12,hmmpanther:PTHR23281,PROSITE_patterns:PS00661,Pfam_domain:PF00373,Gene3D:2.30.29.30,SMART_domains:SM00295,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		rs376633724	.												A	3	1	3	13740214	13740214	C	A	1	0	0	0	0	1	0	0	0	5921	507	18	2		2	FRMD4A	10	13740214	Missense_Mutation	SNP	C	11LU022_TP	6567649	13740214	120057208	554	1226											
NMT2	0	.	GRCh38	chr10	15133365	15133365	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagatgttatgacttcatcTgaacagggagagaaagagaa	16	9	12	4	0	2	5	1	3	1	3	2	9	2	6	0	1	1	1	0	1	4	2	novel		11LU022_TP	11LU022_NB	T	T																c.392-2A>C		p.X131_splice	ENST00000378165		127	93	34	145	145	0	strelka-varscan-mutect	NMT2,splice_acceptor_variant,,ENST00000378165,NM_004808.2;NMT2,splice_acceptor_variant,,ENST00000378150,NM_001308295.1;NMT2,splice_acceptor_variant,,ENST00000478580,;RPP38,intron_variant,,ENST00000451677,;	G	ENST00000378165	Transcript	splice_acceptor_variant	-/2907	392/1497	131/498				1		-1	NMT2	HGNC	HGNC:7858	protein_coding	YES	CCDS7109.1	ENSP00000367407	O60551		UPI0000130278	NM_004808.2				3/11																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	3	15133365	15133365	T	G	1	0	0	0	0	0	0	1	0	10545	1594	55	5		5	NMT2	10	15133365	Splice_Site	SNP	T	11LU022_TP	1393151	15133365	118664057	555	1227											
ITGA8	0	.	GRCh38	chr10	15575496	15575496	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacaatggctacctcataaAtatgttccaccaatggtcca	14	10	6	11	0	1	1	1	0	0	1	3	1	3	1	4	2	1	2	4	2	6	4	novel		11LU022_TP	11LU022_NB	A	A																c.2471T>A	p.Ile824Asn	p.I824N	ENST00000378076	24/30	134	122	12	148	148	0	strelka-varscan-mutect	ITGA8,missense_variant,p.Ile824Asn,ENST00000378076,NM_003638.2,NM_001291494.1;	T	ENST00000378076	Transcript	missense_variant	2825/6755	2471/3192	824/1063	I/N	aTt/aAt		1		-1	ITGA8	HGNC	HGNC:6144	protein_coding	YES	CCDS31155.1	ENSP00000367316	P53708		UPI00001D80A0	NM_003638.2,NM_001291494.1	deleterious(0)		24/30		Gene3D:1jv2A04,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	15575496	15575496	A	T	1	0	0	0	0	1	0	0	0	7789	101	4	4		4	ITGA8	10	15575496	Missense_Mutation	SNP	A	11LU022_TP	442131	15575496	118221926	556	1228											
ARHGAP21	0	.	GRCh38	chr10	24633440	24633440	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacttgggaataggttttGccaataacactttctccatt	11	16	6	8	0	1	0	0	0	1	0	2	1	1	1	2	2	3	1	2	2	5	8	novel		11LU022_TP	11LU022_NB	G	G																c.402C>T	p.=	p.G134G	ENST00000396432	6/26	105	97	8	153	153	0	strelka-varscan-mutect	ARHGAP21,synonymous_variant,p.=,ENST00000396432,NM_020824.3;ARHGAP21,synonymous_variant,p.=,ENST00000612832,;ARHGAP21,synonymous_variant,p.=,ENST00000320481,;ARHGAP21,synonymous_variant,p.=,ENST00000446003,;ARHGAP21,synonymous_variant,p.=,ENST00000376410,;ARHGAP21,synonymous_variant,p.=,ENST00000416305,;ARHGAP21,synonymous_variant,p.=,ENST00000636842,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000476499,;	A	ENST00000396432	Transcript	synonymous_variant	889/7167	402/5877	134/1958	G	ggC/ggT		1		-1	ARHGAP21	HGNC	HGNC:23725	protein_coding	YES	CCDS7144.2	ENSP00000379709	Q5T5U3		UPI0001639C78	NM_020824.3			6/26		PROSITE_profiles:PS50106,hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	24633440	24633440	G	A	1	0	0	0	0	0	0	0	1	995	1306	46	3		3	ARHGAP21	10	24633440	Silent	SNP	G	11LU022_TP	9057944	24633440	109163982	557	1229											
ZEB1	0	.	GRCh38	chr10	31521771	31521771	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcactgcccagttaccCacaatcgtggccattgctga	10	9	8	14	1	1	1	1	1	0	0	2	1	1	1	3	1	3	2	3	1	2	2			11LU022_TP	11LU022_NB	C	C																c.2439C>T	p.=	p.P813P	ENST00000361642	7/9	112	91	21	114	114	0	strelka-varscan-mutect	ZEB1,synonymous_variant,p.=,ENST00000446923,NM_001323656.1,NM_001323664.1,NM_001323657.1,NM_001323650.1,NM_001128128.2,NM_001174094.1;ZEB1,synonymous_variant,p.=,ENST00000361642,NM_001174096.1;ZEB1,synonymous_variant,p.=,ENST00000320985,NM_030751.5;ZEB1,synonymous_variant,p.=,ENST00000560721,NM_001174093.1;ZEB1,synonymous_variant,p.=,ENST00000542815,NM_001174095.1;ZEB1,downstream_gene_variant,,ENST00000561212,;ZEB1,downstream_gene_variant,,ENST00000559476,;ZEB1,downstream_gene_variant,,ENST00000424869,;ZEB1,downstream_gene_variant,,ENST00000558440,;ZEB1,non_coding_transcript_exon_variant,,ENST00000559858,;ZEB1,3_prime_UTR_variant,,ENST00000437844,NM_001323663.1,NM_001323661.1,NM_001323644.1,NM_001323649.1,NM_001323659.1,NM_001323652.1,NM_001323673.1,NM_001323662.1,NM_001323676.1,NM_001323653.1,NM_001323655.1,NM_001323645.1,NM_001323647.1,NM_001323660.1,NM_001323671.1,NM_001323638.1,NM_001323665.1,NM_001323643.1,NM_001323677.1,NM_001323641.1,NM_001323642.1,NM_001323658.1,NM_001323651.1,NM_001323672.1,NM_001323654.1;ZEB1,non_coding_transcript_exon_variant,,ENST00000488625,;ZEB1,non_coding_transcript_exon_variant,,ENST00000542879,;ZEB1,non_coding_transcript_exon_variant,,ENST00000558655,;ZEB1,downstream_gene_variant,,ENST00000558863,;	T	ENST00000361642	Transcript	synonymous_variant	2502/5990	2439/3378	813/1125	P	ccC/ccT	COSM393174	1		1	ZEB1	HGNC	HGNC:11642	protein_coding	YES	CCDS53505.1	ENSP00000354487	P37275		UPI000068F51D	NM_001174096.1			7/9		hmmpanther:PTHR24391,hmmpanther:PTHR24391:SF17											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	3	31521771	31521771	C	T	1	0	0	0	0	0	0	0	1	18199	581	21	3		3	ZEB1	10	31521771	Silent	SNP	C	11LU022_TP	6888331	31521771	102275651	558	1230											
ITGB1	0	.	GRCh38	chr10	32912115	32912115	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatgtctaccaacacgcccTtcattgcacctgaagaaaca	14	8	5	14	1	2	2	1	1	1	1	2	2	2	2	3	0	4	1	3	0	5	3	novel		11LU022_TP	11LU022_NB	T	T																c.1479A>T	p.Glu493Asp	p.E493D	ENST00000396033	12/16	60	52	8	66	66	0	strelka-varscan-mutect	ITGB1,missense_variant,p.Glu493Asp,ENST00000396033,NM_133376.2;ITGB1,missense_variant,p.Glu493Asp,ENST00000423113,NM_033668.2;ITGB1,missense_variant,p.Glu493Asp,ENST00000302278,NM_002211.3;ITGB1,upstream_gene_variant,,ENST00000488427,;ITGB1,upstream_gene_variant,,ENST00000494395,;	A	ENST00000396033	Transcript	missense_variant	1615/3784	1479/2397	493/798	E/D	gaA/gaT		1		-1	ITGB1	HGNC	HGNC:6153	protein_coding	YES	CCDS7174.1	ENSP00000379350	P05556		UPI0000070EEB	NM_133376.2	tolerated(0.43)		12/16		PIRSF_domain:PIRSF002512,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF28																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	32912115	32912115	T	A	1	0	0	0	0	1	0	0	0	7797	1606	56	4		4	ITGB1	10	32912115	Missense_Mutation	SNP	T	11LU022_TP	1390344	32912115	100885307	559	1231											
ANKRD30A	0	.	GRCh38	chr10	37130357	37130357	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgctgtcccatggtgcAgtcatcgaagtgcacaacaa	13	8	9	11	1	1	0	1	0	0	0	3	1	2	0	1	1	5	3	1	1	4	0	novel		11LU022_TP	11LU022_NB	A	A																c.321A>T	p.=	p.A107A	ENST00000361713	3/36	111	99	12	139	139	0	strelka-varscan-mutect	ANKRD30A,synonymous_variant,p.=,ENST00000374660,;ANKRD30A,synonymous_variant,p.=,ENST00000611781,;ANKRD30A,synonymous_variant,p.=,ENST00000602533,;ANKRD30A,synonymous_variant,p.=,ENST00000361713,NM_052997.2;RNU6-811P,upstream_gene_variant,,ENST00000384069,;	T	ENST00000361713	Transcript	synonymous_variant	420/4405	321/4026	107/1341	A	gcA/gcT		1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2			3/36		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147,Pfam_domain:PF00023,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	3	37130357	37130357	A	T	1	0	0	0	0	0	0	0	1	761	175	7	4		4	ANKRD30A	10	37130357	Silent	SNP	A	11LU022_TP	4218242	37130357	96667065	560	1232											
WDFY4	0	.	GRCh38	chr10	48776913	48776913	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccatgacctccccacgCaacctgcagcctcagagggc	9	6	8	18	1	2	2	1	1	1	1	4	2	3	2	6	1	3	2	6	1	1	0	novel		11LU022_TP	11LU022_NB	C	C																c.3027C>A	p.=	p.R1009R	ENST00000325239	15/61	230	189	41	256	256	0	strelka-varscan-mutect	WDFY4,synonymous_variant,p.=,ENST00000325239,NM_020945.1;	A	ENST00000325239	Transcript	synonymous_variant	3027/9555	3027/9555	1009/3184	R	cgC/cgA		1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1			15/61		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	3	48776913	48776913	C	A	1	0	0	0	0	0	0	0	1	17831	697	25	2		2	WDFY4	10	48776913	Silent	SNP	C	11LU022_TP	11646556	48776913	85020509	561	1233											
C10orf71	0	.	GRCh38	chr10	49324178	49324178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagcaacggtgtcatcctcCccaatgggcttgaggaaagc	10	8	12	11	1	1	2	1	2	0	0	3	3	3	3	3	3	3	2	3	3	3	1			11LU022_TP	11LU022_NB	C	C																c.1633C>A	p.Pro545Thr	p.P545T	ENST00000374144	3/3	140	120	20	197	197	0	strelka-varscan-mutect	C10orf71,missense_variant,p.Pro545Thr,ENST00000374144,NM_001135196.1;	A	ENST00000374144	Transcript	missense_variant	1921/5230	1633/4308	545/1435	P/T	Ccc/Acc	COSM3747190,COSM3747191	1		1	C10orf71	HGNC	HGNC:26973	protein_coding	YES	CCDS44387.1	ENSP00000363259	Q711Q0		UPI0000161572	NM_001135196.1	deleterious(0.01)		3/3		hmmpanther:PTHR33775											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	3	49324178	49324178	C	A	1	0	0	0	0	1	0	0	0	1769	623	22	2		2	C10orf71	10	49324178	Missense_Mutation	SNP	C	11LU022_TP	547265	49324178	84473244	562	1234											
OGDHL	0	.	GRCh38	chr10	49737958	49737958	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagactcaccggcttgcggaAgggcagcaggatctgccggc	8	5	16	12	3	2	1	1	0	1	1	2	4	2	3	2	5	3	3	2	5	1	1	novel		11LU022_TP	11LU022_NB	A	A																c.2506T>G	p.Phe836Val	p.F836V	ENST00000374103	19/23	178	159	19	206	205	1	strelka-varscan-mutect	OGDHL,missense_variant,p.Phe836Val,ENST00000374103,NM_018245.2;OGDHL,missense_variant,p.Phe779Val,ENST00000419399,NM_001143996.1;OGDHL,missense_variant,p.Phe627Val,ENST00000432695,NM_001143997.1;OGDHL,non_coding_transcript_exon_variant,,ENST00000490844,;	C	ENST00000374103	Transcript	missense_variant	2592/3704	2506/3033	836/1010	F/V	Ttc/Gtc		1		-1	OGDHL	HGNC	HGNC:25590	protein_coding	YES	CCDS7234.1	ENSP00000363216	Q9ULD0		UPI000013D6A4	NM_018245.2	deleterious(0)		19/23		Gene3D:3.40.50.970,Pfam_domain:PF02779,PIRSF_domain:PIRSF000157,hmmpanther:PTHR23152,hmmpanther:PTHR23152:SF5,SMART_domains:SM00861,Superfamily_domains:SSF52518,TIGRFAM_domain:TIGR00239																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	49737958	49737958	A	C	1	0	0	0	0	1	0	0	0	10914	72	3	5		5	OGDHL	10	49737958	Missense_Mutation	SNP	A	11LU022_TP	413780	49737958	84059464	563	1235											
PARG	0	.	GRCh38	chr10	49885244	49885244	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagagtgcaattttcaccaTatcaggcaagatggactgat	14	10	9	8	0	2	3	2	1	0	2	2	4	2	4	1	2	1	2	1	2	3	3	rs782572864		11LU022_TP	11LU022_NB	T	T																c.1789A>T	p.Met597Leu	p.M597L	ENST00000402038	9/19	306	246	60	310	310	0	strelka-varscan-mutect	PARG,missense_variant,p.Met597Leu,ENST00000402038,NM_001324381.1;PARG,missense_variant,p.Met597Leu,ENST00000616448,NM_001303487.1,NM_003631.3,NM_001303486.1,NM_001303489.1;PARG,non_coding_transcript_exon_variant,,ENST00000611974,;PARG,3_prime_UTR_variant,,ENST00000614063,;PARG,intron_variant,,ENST00000610922,;	A	ENST00000402038	Transcript	missense_variant	1925/4128	1789/2931	597/976	M/L	Atg/Ttg	rs782572864	1		-1	PARG	HGNC	HGNC:8605	protein_coding	YES	CCDS73130.1	ENSP00000384408	Q86W56		UPI000018CEA9	NM_001324381.1	tolerated(0.06)		9/19		Pfam_domain:PF05028,hmmpanther:PTHR12837																	MODERATE	1	SNV	5			1										PASS		rs782572864	.												A	3	1	3	49885244	49885244	T	A	1	0	0	0	0	1	0	0	0	11528	1406	49	4		4	PARG	10	49885244	Missense_Mutation	SNP	T	11LU022_TP	147286	49885244	83912178	564	1236											
PRKG1	0	.	GRCh38	chr10	51153237	51153237	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagctgtcgcagatccagGagattgtggattgtatgtac	9	12	14	6	1	0	2	0	0	0	2	2	5	1	4	1	3	2	4	1	3	2	4	novel		11LU022_TP	11LU022_NB	G	G																c.385G>T	p.Glu129Ter	p.E129*	ENST00000373980	2/18	138	109	29	159	159	0	strelka-varscan-mutect	PRKG1,stop_gained,p.Glu129Ter,ENST00000373980,NM_006258.3;PRKG1,stop_gained,p.Glu114Ter,ENST00000373985,NM_001098512.2;PRKG1,upstream_gene_variant,,ENST00000373976,;	T	ENST00000373980	Transcript	stop_gained	802/6928	385/2061	129/686	E/*	Gag/Tag		1		1	PRKG1	HGNC	HGNC:9414	protein_coding	YES	CCDS7244.1	ENSP00000363092	Q13976		UPI000012DDCD	NM_006258.3			2/18		Gene3D:2.60.120.10,PIRSF_domain:PIRSF000559,PROSITE_profiles:PS50042,hmmpanther:PTHR24353,hmmpanther:PTHR24353:SF68,SMART_domains:SM00100,Superfamily_domains:SSF51206																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	3	51153237	51153237	G	T	1	0	0	0	0	0	1	0	0	12655	1175	41	2		2	PRKG1	10	51153237	Nonsense_Mutation	SNP	G	11LU022_TP	1267993	51153237	82644185	565	1237											
PCDH15	0	.	GRCh38	chr10	53806750	53806750	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccttagtggcttcacCgctgtattgtcagtccccac	5	14	8	14	1	2	0	2	0	0	0	4	0	4	0	4	1	0	4	4	1	2	5	rs572313030		11LU022_TP	11LU022_NB	C	C																c.4875G>T	p.=	p.A1625A	ENST00000614895	35/35	498	403	95	598	597	1	strelka-varscan-mutect	PCDH15,synonymous_variant,p.=,ENST00000614895,;PCDH15,synonymous_variant,p.=,ENST00000373965,NM_001142772.1;PCDH15,synonymous_variant,p.=,ENST00000414778,;PCDH15,synonymous_variant,p.=,ENST00000616114,;PCDH15,synonymous_variant,p.=,ENST00000621708,NM_001142771.1;PCDH15,synonymous_variant,p.=,ENST00000495484,;PCDH15,synonymous_variant,p.=,ENST00000618301,;PCDH15,downstream_gene_variant,,ENST00000617271,NM_001142770.1;PCDH15,downstream_gene_variant,,ENST00000613657,NM_001142769.1;PCDH15,downstream_gene_variant,,ENST00000395445,;PCDH15,downstream_gene_variant,,ENST00000395438,;PCDH15,downstream_gene_variant,,ENST00000612394,;PCDH15,downstream_gene_variant,,ENST00000409834,;PCDH15,downstream_gene_variant,,ENST00000395446,;PCDH15,downstream_gene_variant,,ENST00000395440,;PCDH15,downstream_gene_variant,,ENST00000395442,;PCDH15,downstream_gene_variant,,ENST00000615043,;PCDH15,downstream_gene_variant,,ENST00000414367,;PCDH15,downstream_gene_variant,,ENST00000476074,;	A	ENST00000614895	Transcript	synonymous_variant	5270/9249	4875/5046	1625/1681	A	gcG/gcT	rs572313030,COSM1348209	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding			ENSP00000478512		A0A087WUA8	UPI0004E4CB60				35/35													0,1						LOW		SNV	5		0,1	1										PASS		rs572313030	.												A	2	1	3	53806750	53806750	C	A	1	0	0	0	0	0	0	0	1	11598	639	23	1		1	PCDH15	10	53806750	Silent	SNP	C	11LU022_TP	2653513	53806750	79990672	566	1238											
PCDH15	0	.	GRCh38	chr10	53807025	53807025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gatattactgtggatactagGatggtgaagacggtttctct	10	14	12	5	1	1	2	0	1	1	1	2	5	1	4	0	4	2	1	0	4	5	5			11LU022_TP	11LU022_NB	G	G																c.4600C>G	p.Pro1534Ala	p.P1534A	ENST00000614895	35/35	146	138	8	153	153	0	strelka-varscan-mutect	PCDH15,missense_variant,p.Pro1534Ala,ENST00000614895,;PCDH15,missense_variant,p.Pro1530Ala,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Pro1529Ala,ENST00000414778,;PCDH15,missense_variant,p.Pro1528Ala,ENST00000616114,;PCDH15,missense_variant,p.Pro1535Ala,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Pro269Ala,ENST00000495484,;PCDH15,missense_variant,p.Pro313Ala,ENST00000618301,;PCDH15,downstream_gene_variant,,ENST00000617271,NM_001142770.1;PCDH15,downstream_gene_variant,,ENST00000613657,NM_001142769.1;PCDH15,downstream_gene_variant,,ENST00000395445,;PCDH15,downstream_gene_variant,,ENST00000395438,;PCDH15,downstream_gene_variant,,ENST00000612394,;PCDH15,downstream_gene_variant,,ENST00000409834,;PCDH15,downstream_gene_variant,,ENST00000395446,;PCDH15,downstream_gene_variant,,ENST00000395440,;PCDH15,downstream_gene_variant,,ENST00000395442,;PCDH15,downstream_gene_variant,,ENST00000615043,;PCDH15,non_coding_transcript_exon_variant,,ENST00000476074,;PCDH15,downstream_gene_variant,,ENST00000414367,;	C	ENST00000614895	Transcript	missense_variant	4995/9249	4600/5046	1534/1681	P/A	Cct/Gct	COSM1505283	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding			ENSP00000478512		A0A087WUA8	UPI0004E4CB60		tolerated_low_confidence(1)		35/35													1						MODERATE		SNV	5		1	1										PASS		.	.												C	3	2	3	53807025	53807025	G	C	1	0	0	0	0	1	0	0	0	11598	1174	41	4		4	PCDH15	10	53807025	Missense_Mutation	SNP	G	11LU022_TP	275	53807025	79990397	567	1239											
PCDH15	0	.	GRCh38	chr10	53809142	53809142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgattcaggggtggaactCtcctcctcctcagagggtgt	6	12	12	11	0	4	2	2	1	2	1	7	3	6	3	3	4	1	0	3	4	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.4923G>T	p.Glu1641Asp	p.E1641D	ENST00000613657	37/37	356	306	50	407	407	0	strelka-varscan-mutect	PCDH15,missense_variant,p.Glu1641Asp,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Glu1634Asp,ENST00000395445,;PCDH15,missense_variant,p.Glu1640Asp,ENST00000612394,;PCDH15,missense_variant,p.Glu832Asp,ENST00000395446,;PCDH15,missense_variant,p.Glu570Asp,ENST00000395440,;PCDH15,missense_variant,p.Glu501Asp,ENST00000395442,;PCDH15,3_prime_UTR_variant,,ENST00000617271,NM_001142770.1;PCDH15,3_prime_UTR_variant,,ENST00000395438,;PCDH15,3_prime_UTR_variant,,ENST00000409834,;PCDH15,3_prime_UTR_variant,,ENST00000615043,;PCDH15,intron_variant,,ENST00000614895,;PCDH15,intron_variant,,ENST00000373965,NM_001142772.1;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000616114,;PCDH15,intron_variant,,ENST00000621708,NM_001142771.1;PCDH15,intron_variant,,ENST00000495484,;PCDH15,intron_variant,,ENST00000618301,;PCDH15,3_prime_UTR_variant,,ENST00000414367,;PCDH15,intron_variant,,ENST00000476074,;	A	ENST00000613657	Transcript	missense_variant	5318/6329	4923/5373	1641/1790	E/D	gaG/gaT		1		-1	PCDH15	HGNC	HGNC:14674	protein_coding		CCDS73138.1	ENSP00000482794		A0A087WZN9	UPI0001884905	NM_001142769.1	tolerated_low_confidence(0.16)		37/37		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	3	53809142	53809142	C	A	1	0	0	0	0	1	0	0	0	11598	912	32	2		2	PCDH15	10	53809142	Missense_Mutation	SNP	C	11LU022_TP	2117	53809142	79988280	568	1240											
PCDH15	0	.	GRCh38	chr10	53809455	53809455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtatgtaggctcagctGctggtggtttttcgatagtt	5	18	13	5	1	1	0	1	0	0	0	2	1	1	0	0	3	2	7	0	3	3	7	novel		11LU022_TP	11LU022_NB	G	G																c.4610C>T	p.Ala1537Val	p.A1537V	ENST00000613657	37/37	297	239	58	376	375	1	strelka-varscan-mutect	PCDH15,missense_variant,p.Ala1537Val,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Ala1530Val,ENST00000395445,;PCDH15,missense_variant,p.Ala1536Val,ENST00000612394,;PCDH15,missense_variant,p.Ala728Val,ENST00000395446,;PCDH15,missense_variant,p.Ala466Val,ENST00000395440,;PCDH15,missense_variant,p.Ala397Val,ENST00000395442,;PCDH15,3_prime_UTR_variant,,ENST00000617271,NM_001142770.1;PCDH15,3_prime_UTR_variant,,ENST00000395438,;PCDH15,3_prime_UTR_variant,,ENST00000409834,;PCDH15,3_prime_UTR_variant,,ENST00000615043,;PCDH15,intron_variant,,ENST00000614895,;PCDH15,intron_variant,,ENST00000373965,NM_001142772.1;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000616114,;PCDH15,intron_variant,,ENST00000621708,NM_001142771.1;PCDH15,intron_variant,,ENST00000495484,;PCDH15,intron_variant,,ENST00000618301,;PCDH15,3_prime_UTR_variant,,ENST00000414367,;PCDH15,intron_variant,,ENST00000476074,;	A	ENST00000613657	Transcript	missense_variant	5005/6329	4610/5373	1537/1790	A/V	gCa/gTa		1		-1	PCDH15	HGNC	HGNC:14674	protein_coding		CCDS73138.1	ENSP00000482794		A0A087WZN9	UPI0001884905	NM_001142769.1	tolerated_low_confidence(0.16)		37/37		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	3	53809455	53809455	G	A	1	0	0	0	0	1	0	0	0	11598	1319	46	3		3	PCDH15	10	53809455	Missense_Mutation	SNP	G	11LU022_TP	313	53809455	79987967	569	1241											
PCDH15	0	.	GRCh38	chr10	54195830	54195830	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactttgattgttttcatcCagtatttcaatgtgtagacc	9	17	8	7	0	2	2	2	1	0	1	3	3	3	3	2	1	0	3	2	1	3	7	novel		11LU022_TP	11LU022_NB	C	C																c.1173G>T	p.=	p.L391L	ENST00000373957	12/35	340	270	70	404	403	1	strelka-varscan-mutect	PCDH15,synonymous_variant,p.=,ENST00000614895,;PCDH15,synonymous_variant,p.=,ENST00000373965,NM_001142772.1;PCDH15,synonymous_variant,p.=,ENST00000414778,;PCDH15,synonymous_variant,p.=,ENST00000617051,;PCDH15,synonymous_variant,p.=,ENST00000373957,NM_001142763.1;PCDH15,synonymous_variant,p.=,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,synonymous_variant,p.=,ENST00000395430,NM_001142766.1;PCDH15,synonymous_variant,p.=,ENST00000395433,NM_001142773.1;PCDH15,synonymous_variant,p.=,ENST00000395432,NM_001142767.1;PCDH15,synonymous_variant,p.=,ENST00000320301,NM_033056.3;PCDH15,synonymous_variant,p.=,ENST00000622048,;PCDH15,synonymous_variant,p.=,ENST00000437009,NM_001142765.1;PCDH15,synonymous_variant,p.=,ENST00000617271,NM_001142770.1;PCDH15,synonymous_variant,p.=,ENST00000613657,NM_001142769.1;PCDH15,synonymous_variant,p.=,ENST00000395445,;PCDH15,synonymous_variant,p.=,ENST00000616114,;PCDH15,synonymous_variant,p.=,ENST00000395438,;PCDH15,synonymous_variant,p.=,ENST00000612394,;PCDH15,synonymous_variant,p.=,ENST00000621708,NM_001142771.1;PCDH15,synonymous_variant,p.=,ENST00000373955,;PCDH15,synonymous_variant,p.=,ENST00000395446,;PCDH15,synonymous_variant,p.=,ENST00000395440,;PCDH15,5_prime_UTR_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,synonymous_variant,p.=,ENST00000448885,;PCDH15,synonymous_variant,p.=,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	A	ENST00000373957	Transcript	synonymous_variant	1568/7032	1173/5889	391/1962	L	ctG/ctT		1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1			12/35		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF11,hmmpanther:PTHR24028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	5			1										PASS		rs1397995581	.												A	2	1	3	54195830	54195830	C	A	1	0	0	0	0	0	0	0	1	11598	581	21	2		2	PCDH15	10	54195830	Silent	SNP	C	11LU022_TP	386375	54195830	79601592	570	1242											
PCDH15	0	.	GRCh38	chr10	54317438	54317438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcattcagattttgggcacGgtcctgttagggagaaaaac	11	11	11	8	1	2	2	2	0	0	2	3	3	3	2	1	3	1	2	1	3	3	4	rs200798008		11LU022_TP	11LU022_NB	G	G																c.724C>A	p.Arg242Ser	p.R242S	ENST00000373957	9/35	422	376	46	474	469	5	strelka-varscan-mutect	PCDH15,missense_variant,p.Arg242Ser,ENST00000614895,;PCDH15,missense_variant,p.Arg237Ser,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Arg237Ser,ENST00000414778,;PCDH15,missense_variant,p.Arg242Ser,ENST00000617051,;PCDH15,missense_variant,p.Arg242Ser,ENST00000373957,NM_001142763.1;PCDH15,missense_variant,p.Arg237Ser,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,missense_variant,p.Arg237Ser,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Arg215Ser,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Arg200Ser,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Arg237Ser,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Arg237Ser,ENST00000622048,;PCDH15,missense_variant,p.Arg237Ser,ENST00000437009,NM_001142765.1;PCDH15,missense_variant,p.Arg237Ser,ENST00000617271,NM_001142770.1;PCDH15,missense_variant,p.Arg242Ser,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Arg237Ser,ENST00000395445,;PCDH15,missense_variant,p.Arg237Ser,ENST00000616114,;PCDH15,missense_variant,p.Arg237Ser,ENST00000395438,;PCDH15,missense_variant,p.Arg242Ser,ENST00000612394,;PCDH15,missense_variant,p.Arg242Ser,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Arg237Ser,ENST00000373955,;PCDH15,missense_variant,p.Arg237Ser,ENST00000395446,;PCDH15,missense_variant,p.Arg237Ser,ENST00000395440,;PCDH15,missense_variant,p.Arg237Ser,ENST00000395442,;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,missense_variant,p.Arg237Ser,ENST00000448885,;PCDH15,missense_variant,p.Arg237Ser,ENST00000373956,;PCDH15,missense_variant,p.Arg237Ser,ENST00000414367,;	T	ENST00000373957	Transcript	missense_variant	1119/7032	724/5889	242/1962	R/S	Cgt/Agt	rs200798008	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1	deleterious(0)		9/35		PROSITE_profiles:PS50268,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313										uncertain_significance							MODERATE	1	SNV	5		1	1										PASS		rs200798008	.												T	3	4	3	54317438	54317438	G	T	1	0	0	0	0	1	0	0	0	11598	1130	39	1		1	PCDH15	10	54317438	Missense_Mutation	SNP	G	11LU022_TP	121608	54317438	79479984	571	1243											
ANK3	0	.	GRCh38	chr10	60198475	60198475	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagatgccccttgctgcaaCagctgttgtactatgtctgc	7	12	11	11	0	1	1	0	0	1	1	1	2	1	1	2	1	7	5	2	1	3	4	novel		11LU022_TP	11LU022_NB	C	C																c.1554G>C	p.=	p.L518L	ENST00000280772	14/44	366	307	59	414	414	0	strelka-varscan-mutect	ANK3,synonymous_variant,p.=,ENST00000280772,NM_020987.3;ANK3,synonymous_variant,p.=,ENST00000373827,NM_001204403.1;ANK3,synonymous_variant,p.=,ENST00000503366,NM_001204404.1;ANK3,3_prime_UTR_variant,,ENST00000622427,;	G	ENST00000280772	Transcript	synonymous_variant	1746/16874	1554/13134	518/4377	L	ctG/ctC		1		-1	ANK3	HGNC	HGNC:494	protein_coding	YES	CCDS7258.1	ENSP00000280772	Q12955		UPI0000141BA9	NM_020987.3			14/44		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF22,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	3	60198475	60198475	C	G	1	0	0	0	0	0	0	0	1	722	465	17	4		4	ANK3	10	60198475	Silent	SNP	C	11LU022_TP	5881037	60198475	73598947	572	1244											
SIRT1	0	.	GRCh38	chr10	67916505	67916505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggagctggatttgggaCtgatggagatgatcaagagg	11	9	18	3	0	1	4	1	2	0	2	1	9	1	8	0	6	1	1	0	6	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.2156C>T	p.Thr719Ile	p.T719I	ENST00000212015	9/9	171	162	9	248	248	0	strelka-mutect	SIRT1,missense_variant,p.Thr719Ile,ENST00000212015,NM_012238.4;SIRT1,missense_variant,p.Thr424Ile,ENST00000432464,NM_001142498.1;SIRT1,missense_variant,p.Thr416Ile,ENST00000403579,;SIRT1,missense_variant,p.Thr416Ile,ENST00000406900,NM_001314049.1;	T	ENST00000212015	Transcript	missense_variant	2209/4094	2156/2244	719/747	T/I	aCt/aTt		1		1	SIRT1	HGNC	HGNC:14929	protein_coding	YES	CCDS7273.1	ENSP00000212015	Q96EB6	A0A024QZQ1	UPI0000073E1A	NM_012238.4	tolerated_low_confidence(0.24)		9/9		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	67916505	67916505	C	T	1	0	0	0	0	1	0	0	0	14600	565	20	3		3	SIRT1	10	67916505	Missense_Mutation	SNP	C	11LU022_TP	7718030	67916505	65880917	573	1245											
TET1	0	.	GRCh38	chr10	68573293	68573293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaactgcttggctcttggtGggtctacgtctcctacctct	5	14	10	12	1	4	0	0	0	4	0	5	1	4	0	2	3	4	2	2	3	3	4	novel		11LU022_TP	11LU022_NB	G	G																c.955G>T	p.Gly319Trp	p.G319W	ENST00000373644	2/12	196	166	30	235	235	0	strelka-varscan-mutect	TET1,missense_variant,p.Gly319Trp,ENST00000373644,NM_030625.2;	T	ENST00000373644	Transcript	missense_variant	1164/9288	955/6411	319/2136	G/W	Ggg/Tgg		1		1	TET1	HGNC	HGNC:29484	protein_coding	YES	CCDS7281.1	ENSP00000362748	Q8NFU7		UPI000013D114	NM_030625.2	deleterious(0)		2/12		hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	68573293	68573293	G	T	1	0	0	0	0	1	0	0	0	16190	1348	47	2		2	TET1	10	68573293	Missense_Mutation	SNP	G	11LU022_TP	656788	68573293	65224129	574	1246											
PALD1	0	.	GRCh38	chr10	70566700	70566700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcaggagcagagctgcagCctcgagccctctgcccccga	7	5	13	16	2	1	1	0	0	1	1	2	4	1	2	4	2	6	4	4	2	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.2538C>A	p.Ser846Arg	p.S846R	ENST00000263563	20/20	148	104	44	151	151	0	strelka-varscan-mutect	PALD1,missense_variant,p.Ser846Arg,ENST00000263563,NM_014431.2;	A	ENST00000263563	Transcript	missense_variant	2806/4555	2538/2571	846/856	S/R	agC/agA		1		1	PALD1	HGNC	HGNC:23530	protein_coding	YES	CCDS31215.1	ENSP00000263563	Q9ULE6	A0A024QZM5	UPI00001C1EDC	NM_014431.2	tolerated_low_confidence(0.15)		20/20																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	70566700	70566700	C	A	1	0	0	0	0	1	0	0	0	11486	738	26	2		2	PALD1	10	70566700	Missense_Mutation	SNP	C	11LU022_TP	1993407	70566700	63230722	575	1247											
CHST3	0	.	GRCh38	chr10	72008200	72008200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgagatgtaccgcttcgccgGcatccccctgaccccgcagg	6	6	11	18	5	0	2	0	1	0	1	2	3	1	2	6	2	1	4	6	2	1	2	novel		11LU022_TP	11LU022_NB	G	G																c.1169G>T	p.Gly390Val	p.G390V	ENST00000373115	3/3	141	124	17	211	211	0	strelka-varscan-mutect	CHST3,missense_variant,p.Gly390Val,ENST00000373115,NM_004273.4;	T	ENST00000373115	Transcript	missense_variant	1606/6970	1169/1440	390/479	G/V	gGc/gTc		1		1	CHST3	HGNC	HGNC:1971	protein_coding	YES	CCDS7312.1	ENSP00000362207	Q7LGC8		UPI000013CB04	NM_004273.4	deleterious(0)		3/3		Gene3D:3.40.50.300,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF38,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1035424190	.												T	3	4	3	72008200	72008200	G	T	1	0	0	0	0	1	0	0	0	3165	1203	42	2		2	CHST3	10	72008200	Missense_Mutation	SNP	G	11LU022_TP	1441500	72008200	61789222	576	1248											
CHCHD1	0	.	GRCh38	chr10	73782093	73782093	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatggcgacacccagcctGcggggtcgtctggcgcggtt	4	8	16	13	5	1	0	0	0	1	0	2	1	1	0	2	5	2	2	2	5	1	2	novel		11LU022_TP	11LU022_NB	G	G																c.18G>T	p.=	p.L6L	ENST00000372833	1/3	168	127	41	193	193	0	strelka-varscan-mutect	CHCHD1,synonymous_variant,p.=,ENST00000372837,;CHCHD1,synonymous_variant,p.=,ENST00000372833,NM_203298.2;ZSWIM8,upstream_gene_variant,,ENST00000604729,;ZSWIM8,upstream_gene_variant,,ENST00000398706,NM_015037.3;ZSWIM8,upstream_gene_variant,,ENST00000605216,NM_001242487.1;ZSWIM8,upstream_gene_variant,,ENST00000603114,NM_001242488.1;ZSWIM8,upstream_gene_variant,,ENST00000604524,;FUT11,downstream_gene_variant,,ENST00000489264,;ZSWIM8,upstream_gene_variant,,ENST00000433366,;ZSWIM8,upstream_gene_variant,,ENST00000446546,;	T	ENST00000372833	Transcript	synonymous_variant	31/835	18/357	6/118	L	ctG/ctT		1		1	CHCHD1	HGNC	HGNC:23518	protein_coding	YES	CCDS7334.1	ENSP00000361923	Q96BP2		UPI000006CC90	NM_203298.2			1/3		hmmpanther:PTHR31278																	LOW	1	SNV	1			1										PASS		rs1216640252	.												T	2	4	3	73782093	73782093	G	T	1	0	0	0	0	0	0	0	1	3074	1306	46	2		2	CHCHD1	10	73782093	Silent	SNP	G	11LU022_TP	1773893	73782093	60015329	577	1249											
NUTM2E	0	.	GRCh38	chr10	79850261	79850261	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccccagcctggccttcctCttgggttcccagcacaagct	5	10	8	18	0	1	0	0	0	1	0	4	0	4	0	6	2	3	3	6	2	1	3	novel		11LU022_TP	11LU022_NB	C	C																c.2292C>G	p.=	p.L764L	ENST00000429984	7/7	95	74	21	190	190	0	varscan-mutect	NUTM2E,synonymous_variant,p.=,ENST00000429984,;NUTM2E,3_prime_UTR_variant,,ENST00000602967,;	G	ENST00000429984	Transcript	synonymous_variant	2675/3292	2292/2637	764/878	L	ctC/ctG		1		1	NUTM2E	HGNC	HGNC:23448	protein_coding	YES		ENSP00000407521	B1AL46		UPI0001A5E5A7				7/7		Pfam_domain:PF12881,hmmpanther:PTHR22879																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	3	79850261	79850261	C	G	1	0	0	0	0	0	0	0	1	10850	900	32	4		4	NUTM2E	10	79850261	Silent	SNP	C	11LU022_TP	6068168	79850261	53947161	578	1250											
OPN4	0	.	GRCh38	chr10	86660046	86660046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctattccgctgtggccctgGtggcctttgctgggtaagca	4	12	13	12	1	0	0	0	0	0	0	1	0	1	0	4	4	2	4	4	4	2	4	novel		11LU022_TP	11LU022_NB	G	G																c.985G>T	p.Val329Leu	p.V329L	ENST00000372071	7/11	125	115	10	141	141	0	strelka-varscan-mutect	OPN4,missense_variant,p.Val329Leu,ENST00000372071,NM_001030015.2;OPN4,missense_variant,p.Val318Leu,ENST00000241891,NM_033282.3;OPN4,missense_variant,p.Val329Leu,ENST00000443292,;	T	ENST00000372071	Transcript	missense_variant	1212/2401	985/1470	329/489	V/L	Gtg/Ttg		1		1	OPN4	HGNC	HGNC:14449	protein_coding	YES	CCDS31237.1	ENSP00000361141	Q9UHM6		UPI00001544ED	NM_001030015.2	tolerated(0.17)		7/11		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24240,hmmpanther:PTHR24240:SF72,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	86660046	86660046	G	T	1	0	0	0	0	1	0	0	0	10958	1261	44	2		2	OPN4	10	86660046	Missense_Mutation	SNP	G	11LU022_TP	6809785	86660046	47137376	579	1251											
MMRN2	0	.	GRCh38	chr10	86943014	86943014	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgaaggcgctgtgcagctgGcgcacctcgtggcgggcctc	4	6	17	14	5	0	0	0	0	0	0	2	1	0	0	2	4	2	4	2	4	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.1770C>A	p.=	p.R590R	ENST00000372027	6/7	61	46	15	63	63	0	strelka-varscan-mutect	MMRN2,synonymous_variant,p.=,ENST00000372027,NM_024756.2;MMRN2,downstream_gene_variant,,ENST00000610081,;MMRN2,downstream_gene_variant,,ENST00000609457,;MMRN2,downstream_gene_variant,,ENST00000474994,;MMRN2,downstream_gene_variant,,ENST00000488950,;MMRN2,downstream_gene_variant,,ENST00000608090,;MMRN2,downstream_gene_variant,,ENST00000608753,;	T	ENST00000372027	Transcript	synonymous_variant	2092/4375	1770/2850	590/949	R	cgC/cgA		1		-1	MMRN2	HGNC	HGNC:19888	protein_coding	YES	CCDS7379.1	ENSP00000361097	Q9H8L6		UPI000013F046	NM_024756.2			6/7		hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF6																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	86943014	86943014	G	T	1	0	0	0	0	0	0	0	1	9634	1190	42	2		2	MMRN2	10	86943014	Silent	SNP	G	11LU022_TP	282968	86943014	46854408	580	1252											
LIPM	0	.	GRCh38	chr10	88803008	88803008	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaattcagtacatatgccaActaaagctgtggacccagaa	15	9	8	9	0	1	2	1	1	0	1	1	3	1	3	2	1	4	2	2	1	7	4	novel		11LU022_TP	11LU022_NB	A	A																c.112A>T	p.Thr38Ser	p.T38S	ENST00000404743	1/9	204	156	48	192	192	0	strelka-varscan-mutect	LIPM,missense_variant,p.Thr38Ser,ENST00000404743,NM_001128215.1;LIPM,upstream_gene_variant,,ENST00000539337,;	T	ENST00000404743	Transcript	missense_variant	279/1439	112/1272	38/423	T/S	Act/Tct		1		1	LIPM	HGNC	HGNC:23455	protein_coding	YES	CCDS44457.1	ENSP00000383901	Q5VYY2		UPI00004B21B5	NM_001128215.1	tolerated(0.71)		1/9		Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000862,hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF12																	MODERATE	1	SNV	1			1										PASS		rs1373700038	.												T	3	4	3	88803008	88803008	A	T	1	0	0	0	0	1	0	0	0	8749	43	2	4		4	LIPM	10	88803008	Missense_Mutation	SNP	A	11LU022_TP	1859994	88803008	44994414	581	1253											
KIF11	0	.	GRCh38	chr10	92649869	92649869	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaagttatttatacccAtcaacactggtaagaactga	17	10	7	7	0	1	2	1	1	0	1	1	3	1	3	1	2	3	2	1	2	8	5	rs774863991		11LU022_TP	11LU022_NB	A	A																c.2805A>T	p.=	p.P935P	ENST00000260731	20/22	130	105	25	156	156	0	strelka-varscan-mutect	KIF11,synonymous_variant,p.=,ENST00000260731,NM_004523.3;	T	ENST00000260731	Transcript	synonymous_variant	2895/4860	2805/3171	935/1056	P	ccA/ccT	rs774863991	1		1	KIF11	HGNC	HGNC:6388	protein_coding	YES	CCDS7422.1	ENSP00000260731	P52732		UPI000013D0FC	NM_004523.3			20/22		Pfam_domain:PF13931,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF105																	LOW	1	SNV	1			1										PASS		rs774863991	.												T	2	4	3	92649869	92649869	A	T	1	0	0	0	0	0	0	0	1	8136	204	8	4		4	KIF11	10	92649869	Silent	SNP	A	11LU022_TP	3846861	92649869	41147553	582	1254											
CYP2C18	0	.	GRCh38	chr10	94733431	94733431	+	Frame_Shift_Del	DEL	C	C	-																															agtgactacttcatgcctttCtcagcaggtaatagatattc																										11LU022_TP	11LU022_NB	C	C																c.1284delC	p.Ser429GlnfsTer21	p.S429Qfs*21	ENST00000285979	8/9	80	66	14	86	86	0	sindel-pindel	CYP2C18,frameshift_variant,p.Ser429GlnfsTer21,ENST00000285979,NM_000772.2;CYP2C18,frameshift_variant,p.Ser370GlnfsTer21,ENST00000339022,NM_001128925.1;RP11-400G3.5,frameshift_variant,p.Ser309GlnfsTer437,ENST00000464755,;	-	ENST00000285979	Transcript	frameshift_variant	1483/2418	1284/1473	428/490	F/X	ttC/tt	COSM3441923	1		1	CYP2C18	HGNC	HGNC:2620	protein_coding	YES	CCDS7435.1	ENSP00000285979	P33260		UPI000013DE1D	NM_000772.2			8/9		hmmpanther:PTHR24300:SF123,hmmpanther:PTHR24300,PROSITE_patterns:PS00086,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463,Prints_domain:PR00385											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	3	94733431	94733431	C	-	1	0	1	0	1	0	0	0	0	3968	912	32	0		0	CYP2C18	10	94733431	Frame_Shift_Del	DEL	C	11LU022_TP	2083562	94733431	39063991	583	1255											
C10orf2	0	.	GRCh38	chr10	100989450	100989450	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcgagctgacggtcttcAcaggtaaccctttgagaaat	11	9	12	9	2	2	2	1	2	1	1	2	4	2	2	1	3	2	2	1	3	2	3	novel		11LU022_TP	11LU022_NB	A	A																c.1240A>T	p.Thr414Ser	p.T414S	ENST00000311916	1/5	492	373	119	695	695	0	strelka-varscan-mutect	C10orf2,missense_variant,p.Thr414Ser,ENST00000370228,NM_001163812.1;C10orf2,missense_variant,p.Thr414Ser,ENST00000311916,NM_021830.4;SEMA4G,downstream_gene_variant,,ENST00000210633,NM_017893.3;SEMA4G,downstream_gene_variant,,ENST00000370250,;SEMA4G,downstream_gene_variant,,ENST00000517724,NM_001203244.1;MRPL43,upstream_gene_variant,,ENST00000318325,NM_176792.2;SEMA4G,downstream_gene_variant,,ENST00000613292,;MRPL43,upstream_gene_variant,,ENST00000318364,NM_032112.2;MRPL43,upstream_gene_variant,,ENST00000477279,;MRPL43,upstream_gene_variant,,ENST00000342071,NM_176794.1;MRPL43,upstream_gene_variant,,ENST00000370242,;MRPL43,upstream_gene_variant,,ENST00000370236,;MRPL43,upstream_gene_variant,,ENST00000523148,;MRPL43,upstream_gene_variant,,ENST00000370241,;MRPL43,upstream_gene_variant,,ENST00000370234,NM_001308396.1;MRPL43,upstream_gene_variant,,ENST00000299179,NM_176793.1;MRPL43,upstream_gene_variant,,ENST00000448244,;SEMA4G,downstream_gene_variant,,ENST00000476171,;RP11-108L7.4,upstream_gene_variant,,ENST00000447344,;C10orf2,intron_variant,,ENST00000473656,;C10orf2,intron_variant,,ENST00000476766,;C10orf2,intron_variant,,ENST00000459764,;MRPL43,upstream_gene_variant,,ENST00000493646,;SEMA4G,downstream_gene_variant,,ENST00000484128,;MRPL43,upstream_gene_variant,,ENST00000476012,;SEMA4G,downstream_gene_variant,,ENST00000521006,;MRPL43,upstream_gene_variant,,ENST00000487059,;	T	ENST00000311916	Transcript	missense_variant	1425/3131	1240/2055	414/684	T/S	Aca/Tca		1		1	C10orf2	HGNC	HGNC:1160	protein_coding	YES	CCDS7506.1	ENSP00000309595	Q96RR1	E5KSY5	UPI000006D9D6	NM_021830.4	deleterious(0.01)		1/5		Gene3D:3.40.50.300,Pfam_domain:PF13481,PROSITE_profiles:PS51199,hmmpanther:PTHR12873,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	100989450	100989450	A	T	1	0	0	0	0	1	0	0	0	1762	173	6	4		4	C10orf2	10	100989450	Missense_Mutation	SNP	A	11LU022_TP	6256019	100989450	32807972	584	1256											
LZTS2	0	.	GRCh38	chr10	101003968	101003969	+	Frame_Shift_Ins	INS	-	-	G																															ccctagggggccgtgtggctINSggggggcttttgggcagtgg																								novel		11LU022_TP	11LU022_NB	-	-																c.876dupG	p.Leu293AlafsTer11	p.L293Afs*11	ENST00000370220	2/4	64	44	20	97	97	0	sindel-varindel-pindel	LZTS2,frameshift_variant,p.Leu293AlafsTer11,ENST00000370220,;LZTS2,frameshift_variant,p.Leu293AlafsTer11,ENST00000370223,NM_001318099.1,NM_032429.2;PDZD7,downstream_gene_variant,,ENST00000619208,NM_001195263.1;LZTS2,downstream_gene_variant,,ENST00000426584,;LZTS2,downstream_gene_variant,,ENST00000454422,;LZTS2,downstream_gene_variant,,ENST00000481129,;LZTS2,downstream_gene_variant,,ENST00000429732,;PDZD7,downstream_gene_variant,,ENST00000474125,;LZTS2,downstream_gene_variant,,ENST00000489526,;	G	ENST00000370220	Transcript	frameshift_variant	3933-3934/5741	870-871/2010	290-291/669	-/X	-/G		1		1	LZTS2	HGNC	HGNC:29381	protein_coding	YES	CCDS7507.1	ENSP00000359240	Q9BRK4		UPI00001BD944				2/4		HAMAP:MF_03026,hmmpanther:PTHR19354,hmmpanther:PTHR19354:SF4,Low_complexity_(Seg):seg																	HIGH	1	insertion	1	6		1										PASS		.	.												G	7	5	3	101003968	101003968	-	G	1	0	1	1	0	0	0	0	0	9052	1567	55	0		0	LZTS2	10	101003968	Frame_Shift_Ins	INS	-	11LU022_TP	14518	101003968	32793454	585	1257											
ARL3	0	.	GRCh38	chr10	102685871	102685871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctgccagactcggtcgCggatggtatgcaggttcagt	7	10	15	9	3	2	1	1	0	1	1	4	3	2	3	1	5	2	3	1	5	1	2	rs770782663		11LU022_TP	11LU022_NB	C	C																c.446G>T	p.Arg149Leu	p.R149L	ENST00000260746	5/6	127	96	31	137	136	1	strelka-varscan-mutect	ARL3,missense_variant,p.Arg149Leu,ENST00000260746,NM_004311.3;	A	ENST00000260746	Transcript	missense_variant	578/3844	446/549	149/182	R/L	cGc/cTc	rs770782663,COSM1675524	1		-1	ARL3	HGNC	HGNC:694	protein_coding	YES	CCDS7538.1	ENSP00000260746	P36405		UPI0000125EE4	NM_004311.3	deleterious(0.01)		5/6		PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF166,Pfam_domain:PF00025,Gene3D:3.40.50.300,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs770782663	.												A	3	1	3	102685871	102685871	C	A	1	0	0	0	0	1	0	0	0	1074	768	27	1		1	ARL3	10	102685871	Missense_Mutation	SNP	C	11LU022_TP	1681903	102685871	31111551	586	1258											
PDCD11	0	.	GRCh38	chr10	103440492	103440492	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaggggcaggaggaggtgGagatgcccagcaaggagaag	14	2	20	5	0	0	3	0	0	0	3	0	7	0	5	1	7	2	2	1	7	3	0	rs763863942		11LU022_TP	11LU022_NB	G	G																c.4351G>T	p.Glu1451Ter	p.E1451*	ENST00000369797	29/36	231	173	58	287	287	0	strelka-varscan-mutect	PDCD11,stop_gained,p.Glu1451Ter,ENST00000369797,NM_014976.1;PDCD11,upstream_gene_variant,,ENST00000478543,;	T	ENST00000369797	Transcript	stop_gained	4445/6453	4351/5616	1451/1871	E/*	Gag/Tag	rs763863942	1		1	PDCD11	HGNC	HGNC:13408	protein_coding	YES	CCDS31276.1	ENSP00000358812	Q14690		UPI00001C1ED1	NM_014976.1			29/36		hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF10																	HIGH	1	SNV	1			1										PASS		rs763863942	.												T	4	4	3	103440492	103440492	G	T	1	0	0	0	0	0	1	0	0	11705	1175	41	2		2	PDCD11	10	103440492	Nonsense_Mutation	SNP	G	11LU022_TP	754621	103440492	30356930	587	1259											
CFAP43	0	.	GRCh38	chr10	104225543	104225543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaatgaaagtaaagtgtagtCcaggagaatgttgcctaaaa	17	9	11	4	0	0	2	0	1	0	1	1	4	1	2	2	1	1	3	2	1	8	4	novel		11LU022_TP	11LU022_NB	C	C																c.334G>A	p.Asp112Asn	p.D112N	ENST00000357060	3/38	117	90	27	158	158	0	strelka-varscan-mutect	CFAP43,missense_variant,p.Asp112Asn,ENST00000357060,NM_025145.5;CFAP43,missense_variant,p.Asp42Asn,ENST00000278064,;CFAP43,missense_variant,p.Asp42Asn,ENST00000369720,;CFAP43,missense_variant,p.Asp42Asn,ENST00000369719,;	T	ENST00000357060	Transcript	missense_variant	450/5365	334/4998	112/1665	D/N	Gac/Aac		1		-1	CFAP43	HGNC	HGNC:26684	protein_coding	YES	CCDS31281.1	ENSP00000349568	Q8NDM7		UPI0000D60FC7	NM_025145.5	deleterious(0.02)		3/38		hmmpanther:PTHR14885,hmmpanther:PTHR14885:SF1,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	104225543	104225543	C	T	1	0	0	0	0	1	0	0	0	3018	855	30	3		3	CFAP43	10	104225543	Missense_Mutation	SNP	C	11LU022_TP	785051	104225543	29571879	588	1260											
SORCS1	0	.	GRCh38	chr10	106677375	106677375	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggactccaccttgatccagGtacaaaacactgtgctcttc	11	10	7	13	0	1	1	0	1	1	0	4	2	3	2	3	2	3	2	3	2	3	3	novel		11LU022_TP	11LU022_NB	G	G																c.1770C>T	p.=	p.Y590Y	ENST00000263054	13/26	175	143	32	170	170	0	strelka-varscan-mutect	SORCS1,synonymous_variant,p.=,ENST00000263054,NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1;SORCS1,synonymous_variant,p.=,ENST00000612154,;SORCS1,synonymous_variant,p.=,ENST00000622431,;SORCS1,synonymous_variant,p.=,ENST00000344440,;SORCS1,synonymous_variant,p.=,ENST00000369698,;SORCS1,upstream_gene_variant,,ENST00000472196,;	A	ENST00000263054	Transcript	synonymous_variant	1778/7272	1770/3507	590/1168	Y	taC/taT		1		-1	SORCS1	HGNC	HGNC:16697	protein_coding	YES	CCDS7559.1	ENSP00000263054	Q8WY21		UPI00001AE866	NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1			13/26		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF8,Gene3D:2.130.10.140,Pfam_domain:PF15902,SMART_domains:SM00602,Superfamily_domains:SSF110296																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	106677375	106677375	G	A	1	0	0	0	0	0	0	0	1	15252	1256	44	3		3	SORCS1	10	106677375	Silent	SNP	G	11LU022_TP	2451832	106677375	27120047	589	1261											
CASP7	0	.	GRCh38	chr10	113725511	113725511	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagatgcaaaacccttttaGagaaacccaaactcttcttc	15	11	4	11	0	2	2	0	0	2	2	3	3	2	2	2	0	4	1	2	0	6	5	novel		11LU022_TP	11LU022_NB	G	G																c.781G>T	p.Glu261Ter	p.E261*	ENST00000369321	5/7	44	29	15	70	70	0	strelka-varscan-mutect	CASP7,stop_gained,p.Glu176Ter,ENST00000345633,NM_033339.4;CASP7,stop_gained,p.Glu261Ter,ENST00000369321,NM_001267057.1;CASP7,stop_gained,p.Glu176Ter,ENST00000621345,NM_001267056.1;CASP7,stop_gained,p.Glu176Ter,ENST00000369315,;CASP7,stop_gained,p.Glu209Ter,ENST00000621607,NM_033338.5;CASP7,stop_gained,p.Glu176Ter,ENST00000369318,NM_001227.4;CASP7,stop_gained,p.Glu151Ter,ENST00000452490,NM_001267058.1;CASP7,stop_gained,p.Glu176Ter,ENST00000429617,;CASP7,intron_variant,,ENST00000614447,;CASP7,intron_variant,,ENST00000369331,NM_033340.3;CASP7,downstream_gene_variant,,ENST00000468790,;CASP7,non_coding_transcript_exon_variant,,ENST00000487232,;	T	ENST00000369321	Transcript	stop_gained	867/2620	781/1167	261/388	E/*	Gag/Tag		1		1	CASP7	HGNC	HGNC:1508	protein_coding	YES	CCDS73200.1	ENSP00000358327		A0A0A0MRL7	UPI000264F484	NM_001267057.1			5/7		PROSITE_profiles:PS50208,hmmpanther:PTHR10454,Gene3D:3.40.50.1460,Pfam_domain:PF00656,SMART_domains:SM00115,Superfamily_domains:SSF52129,Prints_domain:PR00376																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	3	113725511	113725511	G	T	1	0	0	0	0	0	1	0	0	2376	943	33	2		2	CASP7	10	113725511	Nonsense_Mutation	SNP	G	11LU022_TP	7048136	113725511	20071911	590	1262											
ABLIM1	0	.	GRCh38	chr10	114453436	114453436	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagttagagggcggctgtCtggccggtaagggagagggg	7	7	22	5	2	1	2	0	0	1	2	1	4	1	3	1	8	0	3	1	8	2	2			11LU022_TP	11LU022_NB	C	C																c.1489G>C	p.Asp497His	p.D497H	ENST00000277895	13/23	89	68	21	129	129	0	strelka-varscan-mutect	ABLIM1,missense_variant,p.Asp465His,ENST00000369252,NM_001322882.1;ABLIM1,missense_variant,p.Asp437His,ENST00000533213,;ABLIM1,missense_variant,p.Asp437His,ENST00000392955,NM_001003407.1;ABLIM1,missense_variant,p.Asp465His,ENST00000369256,NM_001003408.1;ABLIM1,missense_variant,p.Asp497His,ENST00000277895,NM_002313.5;ABLIM1,intron_variant,,ENST00000392952,NM_001322893.1,NM_001322896.1,NM_001322890.1,NM_001322891.1,NM_001322892.1,NM_006720.3;ABLIM1,intron_variant,,ENST00000369253,;ABLIM1,intron_variant,,ENST00000369266,;ABLIM1,intron_variant,,ENST00000428430,;ABLIM1,intron_variant,,ENST00000440467,;	G	ENST00000277895	Transcript	missense_variant	1587/2657	1489/2337	497/778	D/H	Gac/Cac	COSM5696369,COSM5696370,COSM5696371	1		-1	ABLIM1	HGNC	HGNC:78	protein_coding	YES	CCDS7590.1	ENSP00000277895	O14639		UPI0000418D06	NM_002313.5	deleterious(0.01)		13/23		hmmpanther:PTHR24213,hmmpanther:PTHR24213:SF18,Pfam_domain:PF16182											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		rs1377619838	.												G	3	3	3	114453436	114453436	C	G	1	0	0	0	0	1	0	0	0	104	913	32	4		4	ABLIM1	10	114453436	Missense_Mutation	SNP	C	11LU022_TP	727925	114453436	19343986	591	1263											
ATRNL1	0	.	GRCh38	chr10	115165609	115165609	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaactccatcaaggggaccTctccagagatatggacactc	12	7	10	12	0	2	1	1	0	1	1	5	5	3	4	3	4	1	0	3	4	3	1	novel		11LU022_TP	11LU022_NB	T	T																c.1056T>A	p.=	p.P352P	ENST00000355044	7/29	117	88	29	125	125	0	strelka-varscan-mutect	ATRNL1,synonymous_variant,p.=,ENST00000355044,NM_207303.4;ATRNL1,synonymous_variant,p.=,ENST00000609571,NM_001276282.3;ATRNL1,intron_variant,,ENST00000527407,;ATRNL1,3_prime_UTR_variant,,ENST00000616894,;	A	ENST00000355044	Transcript	synonymous_variant	1182/8479	1056/4140	352/1379	P	ccT/ccA		1		1	ATRNL1	HGNC	HGNC:29063	protein_coding	YES	CCDS7592.1	ENSP00000347152	Q5VV63		UPI000021CCF8	NM_207303.4			7/29		hmmpanther:PTHR10574:SF224,hmmpanther:PTHR10574,Pfam_domain:PF13854,Superfamily_domains:0052715																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	115165609	115165609	T	A	1	0	0	0	0	0	0	0	1	1360	1538	54	4		4	ATRNL1	10	115165609	Silent	SNP	T	11LU022_TP	712173	115165609	18631813	592	1264											
GFRA1	0	.	GRCh38	chr10	116089742	116089742	+	Missense_Mutation	SNP	T	T	C																															atctggacgcagttctcaccTgtaaatttgcacacggtggc																								novel		11LU022_TP	11LU022_NB	T	T																c.1196A>G	p.Gln399Arg	p.Q399R	ENST00000355422	9/11	383	325	58	460	458	2	strelka-varscan-mutect	GFRA1,missense_variant,p.Gln394Arg,ENST00000439649,NM_001145453.1;GFRA1,missense_variant,p.Gln394Arg,ENST00000369236,NM_145793.3;GFRA1,missense_variant,p.Gln399Arg,ENST00000355422,NM_005264.4;GFRA1,missense_variant,p.Gln399Arg,ENST00000369234,;	C	ENST00000355422	Transcript	missense_variant,splice_region_variant	1747/2583	1196/1398	399/465	Q/R	cAg/cGg		1		-1	GFRA1	HGNC	HGNC:4243	protein_coding	YES	CCDS44481.1	ENSP00000347591	P56159		UPI000012B3A8	NM_005264.4	deleterious(0.01)		9/11		hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF3,PIRSF_domain:PIRSF038071																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	3	116089742	116089742	T	C	1	0	0	0	0	1	0	0	0	6221	1594	55	5		5	GFRA1	10	116089742	Missense_Mutation	SNP	T	11LU022_TP	924133	116089742	17707680	593	1265	30	2									
GFRA1	0	.	GRCh38	chr10	116089743	116089743	+	Missense_Mutation	SNP	G	G	T																															tctggacgcagttctcacctGtaaatttgcacacggtggca																								novel		11LU022_TP	11LU022_NB	G	G																c.1195C>A	p.Gln399Lys	p.Q399K	ENST00000355422	9/11	380	322	58	456	456	0	strelka-varscan-mutect	GFRA1,missense_variant,p.Gln394Lys,ENST00000439649,NM_001145453.1;GFRA1,missense_variant,p.Gln394Lys,ENST00000369236,NM_145793.3;GFRA1,missense_variant,p.Gln399Lys,ENST00000355422,NM_005264.4;GFRA1,missense_variant,p.Gln399Lys,ENST00000369234,;	T	ENST00000355422	Transcript	missense_variant,splice_region_variant	1746/2583	1195/1398	399/465	Q/K	Cag/Aag		1		-1	GFRA1	HGNC	HGNC:4243	protein_coding	YES	CCDS44481.1	ENSP00000347591	P56159		UPI000012B3A8	NM_005264.4	tolerated(0.06)		9/11		hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF3,PIRSF_domain:PIRSF038071																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	116089743	116089743	G	T	1	0	0	0	0	1	0	0	0	6221	1391	48	2		2	GFRA1	10	116089743	Missense_Mutation	SNP	G	11LU022_TP	1	116089743	17707679	594	1266	30	2									
SFXN4	0	.	GRCh38	chr10	119162351	119162351	+	Frame_Shift_Del	DEL	C	C	-																															gaaacataccctttggtccgCcgaggcagggctggaaacat																								novel		11LU022_TP	11LU022_NB	C	C																c.241delG	p.Ala81ArgfsTer23	p.A81Rfs*23	ENST00000355697	3/14	159	142	17	251	251	0	sindel-varindel-pindel	SFXN4,frameshift_variant,p.Ala81ArgfsTer23,ENST00000355697,NM_213649.1;SFXN4,5_prime_UTR_variant,,ENST00000369131,;SFXN4,5_prime_UTR_variant,,ENST00000419372,;SFXN4,non_coding_transcript_exon_variant,,ENST00000461438,;SFXN4,non_coding_transcript_exon_variant,,ENST00000466218,;SFXN4,non_coding_transcript_exon_variant,,ENST00000462913,;	-	ENST00000355697	Transcript	frameshift_variant	261/1363	241/1014	81/337	A/X	Gcg/cg		1		-1	SFXN4	HGNC	HGNC:16088	protein_coding	YES	CCDS7610.1	ENSP00000347924	Q6P4A7		UPI000004D333	NM_213649.1			3/14		Pfam_domain:PF03820,hmmpanther:PTHR11153,hmmpanther:PTHR11153:SF3																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	3	119162351	119162351	C	-	1	0	1	0	1	0	0	0	0	14457	739	26	0		0	SFXN4	10	119162351	Frame_Shift_Del	DEL	C	11LU022_TP	3072608	119162351	14635071	595	1267											
TACC2	0	.	GRCh38	chr10	122087104	122087104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgagaggccagaggggcctgGggcagcctggccaggcctgg	6	3	20	12	1	0	2	0	0	0	2	0	3	0	2	5	8	1	1	5	8	0	0	novel		11LU022_TP	11LU022_NB	G	G																c.4604G>T	p.Gly1535Val	p.G1535V	ENST00000369005	4/23	87	75	12	109	108	1	strelka-varscan-mutect	TACC2,missense_variant,p.Gly1535Val,ENST00000369005,NM_206862.3;TACC2,missense_variant,p.Gly1535Val,ENST00000334433,;TACC2,missense_variant,p.Gly1535Val,ENST00000515273,NM_001291877.1;TACC2,missense_variant,p.Gly1535Val,ENST00000453444,;TACC2,missense_variant,p.Gly1535Val,ENST00000515603,NM_001291876.1;TACC2,intron_variant,,ENST00000513429,NM_206861.2;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;	T	ENST00000369005	Transcript	missense_variant	4944/9673	4604/8847	1535/2948	G/V	gGg/gTg		1		1	TACC2	HGNC	HGNC:11523	protein_coding	YES	CCDS7626.1	ENSP00000358001	O95359		UPI0000246F6B	NM_206862.3	deleterious_low_confidence(0)		4/23		hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	122087104	122087104	G	T	1	0	0	0	0	1	0	0	0	15898	1232	43	2		2	TACC2	10	122087104	Missense_Mutation	SNP	G	11LU022_TP	2924753	122087104	11710318	596	1268											
EBF3	0	.	GRCh38	chr10	129867829	129867829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaacttgcagcccgtcaaAgaagttgtcgccaattatga	13	10	8	10	2	1	2	1	1	0	1	2	2	1	2	2	0	4	2	2	0	6	4	novel		11LU022_TP	11LU022_NB	A	A																c.838T>C	p.Phe280Leu	p.F280L	ENST00000368648	9/16	157	128	29	215	215	0	strelka-varscan-mutect	EBF3,missense_variant,p.Phe280Leu,ENST00000368648,NM_001005463.2;EBF3,missense_variant,p.Phe289Leu,ENST00000355311,;	G	ENST00000368648	Transcript	missense_variant	911/4375	838/1656	280/551	F/L	Ttt/Ctt		1		-1	EBF3	HGNC	HGNC:19087	protein_coding	YES	CCDS31314.1	ENSP00000357637	Q9H4W6		UPI000002A6FB	NM_001005463.2	deleterious(0)		9/16		Gene3D:2.60.40.10,Pfam_domain:PF01833,hmmpanther:PTHR10747,SMART_domains:SM00429,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	129867829	129867829	A	G	1	0	0	0	0	1	0	0	0	4706	72	3	5		5	EBF3	10	129867829	Missense_Mutation	SNP	A	11LU022_TP	7780725	129867829	3929593	597	1269											
DPYSL4	0	.	GRCh38	chr10	132196910	132196910	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaaggaccggtgccagtgCagcgacagccaggtaagggc	11	4	15	11	2	0	0	0	0	0	0	0	2	0	1	3	4	5	2	3	4	3	2	novel		11LU022_TP	11LU022_NB	C	C																c.528C>A	p.Cys176Ter	p.C176*	ENST00000338492	5/14	196	162	34	324	323	1	strelka-varscan-mutect	DPYSL4,stop_gained,p.Cys176Ter,ENST00000338492,NM_006426.2;DPYSL4,stop_gained,p.Cys99Ter,ENST00000368627,;DPYSL4,downstream_gene_variant,,ENST00000493882,;DPYSL4,downstream_gene_variant,,ENST00000493927,;	A	ENST00000338492	Transcript	stop_gained	692/2729	528/1719	176/572	C/*	tgC/tgA		1		1	DPYSL4	HGNC	HGNC:3016	protein_coding	YES	CCDS7665.1	ENSP00000339850	O14531		UPI000013DC70	NM_006426.2			5/14		Gene3D:3.20.20.140,Pfam_domain:PF01979,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF55,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR02033																	HIGH	1	SNV	1			1										PASS		rs1276846407	.												A	4	1	3	132196910	132196910	C	A	1	0	0	0	0	0	1	0	0	4564	718	25	2		2	DPYSL4	10	132196910	Nonsense_Mutation	SNP	C	11LU022_TP	2329081	132196910	1600512	598	1270											
CALY	0	.	GRCh38	chr10	133326935	133326935	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagatggccttgtacatGatcagcacgcagcccagtag	11	8	10	12	1	1	2	1	1	0	1	1	2	1	2	3	1	4	4	3	1	3	4	novel		11LU022_TP	11LU022_NB	G	G																c.303C>A	p.=	p.I101I	ENST00000252939	4/6	193	173	20	295	295	0	strelka-varscan-mutect	CALY,synonymous_variant,p.=,ENST00000252939,NM_015722.3;CALY,synonymous_variant,p.=,ENST00000368558,;ZNF511-PRAP1,intron_variant,,ENST00000368554,;CALY,downstream_gene_variant,,ENST00000368555,;CALY,upstream_gene_variant,,ENST00000467611,;CALY,upstream_gene_variant,,ENST00000467433,;	T	ENST00000252939	Transcript	synonymous_variant	397/2271	303/654	101/217	I	atC/atA		1		-1	CALY	HGNC	HGNC:17938	protein_coding	YES	CCDS7678.1	ENSP00000252939	Q9NYX4		UPI0000001C76	NM_015722.3			4/6		Pfam_domain:PF06387,PIRSF_domain:PIRSF002383,hmmpanther:PTHR28546,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	133326935	133326935	G	T	1	0	0	0	0	0	0	0	1	2286	1280	45	2		2	CALY	10	133326935	Silent	SNP	G	11LU022_TP	1130025	133326935	470487	599	1271											
MUC5AC	0	.	GRCh38	chr11	1162110	1162110	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgagcagggtcctcatgAaggtggatggcgtggtcatc	7	9	16	9	2	2	2	2	2	0	0	4	3	3	3	1	5	1	2	1	5	1	0	novel		11LU022_TP	11LU022_NB	A	A																c.415A>T	p.Lys139Ter	p.K139*	ENST00000621226	4/49	191	137	54	307	307	0	strelka-varscan-mutect	MUC5AC,stop_gained,p.Lys139Ter,ENST00000621226,NM_001304359.1;	T	ENST00000621226	Transcript	stop_gained	462/17448	415/16965	139/5654	K/*	Aag/Tag		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1			4/49		Pfam_domain:PF00094,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF291,SMART_domains:SM00216																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	3	1162110	1162110	A	T	1	0	0	0	0	0	1	0	0	9978	247	9	4		4	MUC5AC	11	1162110	Nonsense_Mutation	SNP	A	11LU022_TP		1162110	133924512	600	1272											
OR51V1	0	.	GRCh38	chr11	5200231	5200231	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaaaaactcctacctattAtagtgagcccaattttgata	16	12	5	8	0	0	3	0	2	0	1	1	3	1	3	3	0	3	0	3	0	9	7			11LU022_TP	11LU022_NB	A	A																c.470T>C	p.Ile157Thr	p.I157T	ENST00000321255	1/1	184	127	57	251	251	0	strelka-varscan-mutect	OR51V1,missense_variant,p.Ile157Thr,ENST00000321255,NM_001004760.2;AC104389.16,upstream_gene_variant,,ENST00000418080,;	G	ENST00000321255	Transcript	missense_variant	470/966	470/966	157/321	I/T	aTa/aCa	COSM4193468	1		-1	OR51V1	HGNC	HGNC:19597	protein_coding	YES	CCDS31375.1	ENSP00000321729	Q9H2C8		UPI0000140ADA	NM_001004760.2	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF67,Superfamily_domains:SSF81321											1						MODERATE		SNV			1	1										PASS		.	.												G	3	3	3	5200231	5200231	A	G	1	0	0	0	0	1	0	0	0	11181	449	16	5		5	OR51V1	11	5200231	Missense_Mutation	SNP	A	11LU022_TP	4038121	5200231	129886391	601	1273											
OR51B6	0	.	GRCh38	chr11	5351851	5351851	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagtcaggtgtcttgcttgCcatggcttatgactgtttca	6	15	12	8	0	3	1	2	1	1	0	3	2	3	2	1	3	2	3	1	3	1	4	rs751155441		11LU022_TP	11LU022_NB	C	C																c.344C>G	p.Ala115Gly	p.A115G	ENST00000380219	1/1	116	97	19	171	171	0	strelka-varscan-mutect	OR51B6,missense_variant,p.Ala115Gly,ENST00000380219,NM_001004750.1;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;AC104389.31,upstream_gene_variant,,ENST00000450768,;	G	ENST00000380219	Transcript	missense_variant	344/939	344/939	115/312	A/G	gCc/gGc	rs751155441	1		1	OR51B6	HGNC	HGNC:19600	protein_coding	YES	CCDS31379.1	ENSP00000369568	Q9H340		UPI000014017D	NM_001004750.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF22,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs751155441	.												G	3	3	3	5351851	5351851	C	G	1	0	0	0	0	1	0	0	0	11166	739	26	4		4	OR51B6	11	5351851	Missense_Mutation	SNP	C	11LU022_TP	151620	5351851	129734771	602	1274											
TRIM6	0	.	GRCh38	chr11	5611341	5611341	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgtcgtccaagctcttGaatattcttctgttcccacc	6	14	6	15	2	3	1	0	1	3	0	6	1	5	1	4	0	2	2	4	0	3	5	novel		11LU022_TP	11LU022_NB	G	G																c.1550G>T	p.Ter517LeuextTer19	p.*517Lext*19	ENST00000380097	8/8	36	28	8	51	51	0	strelka-varscan-mutect	TRIM6,stop_lost,p.Ter517LeuextTer19,ENST00000380097,NM_001003818.2;TRIM6,stop_lost,p.Ter489LeuextTer19,ENST00000278302,NM_058166.4;TRIM6,stop_lost,p.Ter463LeuextTer19,ENST00000621176,;TRIM6,stop_lost,p.Ter314LeuextTer19,ENST00000445329,;TRIM6,stop_lost,p.Ter463LeuextTer19,ENST00000380107,;TRIM6,stop_lost,p.Ter314LeuextTer19,ENST00000507320,;TRIM6,stop_lost,p.Ter314LeuextTer19,ENST00000506134,NM_001198644.1;TRIM6,stop_lost,p.Ter314LeuextTer?,ENST00000515022,NM_001198645.1;TRIM6-TRIM34,intron_variant,,ENST00000354852,NM_001003819.3;HBG2,intron_variant,,ENST00000380259,;TRIM6,downstream_gene_variant,,ENST00000424369,;AC015691.13,intron_variant,,ENST00000394793,;TRIM6,non_coding_transcript_exon_variant,,ENST00000481603,;TRIM6,downstream_gene_variant,,ENST00000511284,;TRIM6,downstream_gene_variant,,ENST00000469187,;	T	ENST00000380097	Transcript	stop_lost	1792/3403	1550/1551	517/516	*/L	tGa/tTa		1		1	TRIM6	HGNC	HGNC:16277	protein_coding	YES	CCDS31389.1	ENSP00000369440	Q9C030		UPI000041A255	NM_001003818.2			8/8																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	3	5611341	5611341	G	T	1	0	0	0	0	0	0	0	0	17026	1285	45	2		2	TRIM6	11	5611341	Nonstop_Mutation	SNP	G	11LU022_TP	259490	5611341	129475281	603	1275											
APBB1	0	.	GRCh38	chr11	6403187	6403187	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggggaagcttctcctcCtcttggggcaacggctctgg	4	10	15	12	2	3	0	0	0	3	0	5	1	4	1	2	6	2	3	2	6	2	2	novel		11LU022_TP	11LU022_NB	C	C																c.1062G>T	p.Glu354Asp	p.E354D	ENST00000609360	6/15	43	35	8	100	99	1	strelka-varscan-mutect	APBB1,missense_variant,p.Glu354Asp,ENST00000389906,;APBB1,missense_variant,p.Glu354Asp,ENST00000609360,NM_001164.4;APBB1,missense_variant,p.Glu354Asp,ENST00000299402,;APBB1,missense_variant,p.Glu354Asp,ENST00000311051,NM_145689.2;APBB1,missense_variant,p.Glu95Asp,ENST00000610474,;APBB1,missense_variant,p.Glu95Asp,ENST00000608394,NM_001257321.2;APBB1,missense_variant,p.Glu95Asp,ENST00000618005,;APBB1,missense_variant,p.Glu95Asp,ENST00000608704,NM_001257320.2;APBB1,missense_variant,p.Glu95Asp,ENST00000608645,NM_001257326.2;APBB1,missense_variant,p.Glu134Asp,ENST00000608655,NM_001257319.2;APBB1,missense_variant,p.Glu119Asp,ENST00000621678,;APBB1,missense_variant,p.Glu134Asp,ENST00000530885,NM_001257323.2;APBB1,missense_variant,p.Glu119Asp,ENST00000609331,NM_001257325.2;APBB1,missense_variant,p.Glu95Asp,ENST00000529890,;APBB1,intron_variant,,ENST00000529519,;APBB1,downstream_gene_variant,,ENST00000532020,;APBB1,missense_variant,p.Glu354Asp,ENST00000608435,;APBB1,non_coding_transcript_exon_variant,,ENST00000533407,;APBB1,non_coding_transcript_exon_variant,,ENST00000526925,;APBB1,non_coding_transcript_exon_variant,,ENST00000534188,;APBB1,non_coding_transcript_exon_variant,,ENST00000533139,;APBB1,upstream_gene_variant,,ENST00000524626,;APBB1,upstream_gene_variant,,ENST00000529778,;	A	ENST00000609360	Transcript	missense_variant	1162/2642	1062/2133	354/710	E/D	gaG/gaT		1		-1	APBB1	HGNC	HGNC:581	protein_coding	YES	CCDS66018.1	ENSP00000477213	O00213		UPI000012510B	NM_001164.4	tolerated(0.35)		6/15		hmmpanther:PTHR14058,hmmpanther:PTHR14058:SF5,Low_complexity_(Seg):seg,Superfamily_domains:SSF50729																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	6403187	6403187	C	A	1	0	0	0	0	1	0	0	0	879	680	24	2		2	APBB1	11	6403187	Missense_Mutation	SNP	C	11LU022_TP	791846	6403187	128683435	604	1276											
DCHS1	0	.	GRCh38	chr11	6623267	6623267	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatactcatcctctccagtCactagcaccgacacagtgac	11	9	5	16	1	4	1	3	1	1	0	6	2	5	1	3	0	2	1	3	0	2	2	novel		11LU022_TP	11LU022_NB	C	C																c.8409G>T	p.=	p.V2803V	ENST00000299441	21/21	159	112	47	256	255	1	strelka-varscan-mutect	DCHS1,synonymous_variant,p.=,ENST00000299441,NM_003737.3;TPP1,upstream_gene_variant,,ENST00000299427,NM_000391.3;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000436873,;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000428886,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000528917,;	A	ENST00000299441	Transcript	synonymous_variant	8821/10765	8409/9897	2803/3298	V	gtG/gtT		1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3			21/21		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF335,Low_complexity_(Seg):seg,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs1204674858	.												A	2	1	3	6623267	6623267	C	A	1	0	0	0	0	0	0	0	1	4090	813	29	2		2	DCHS1	11	6623267	Silent	SNP	C	11LU022_TP	220080	6623267	128463355	605	1277											
SYT9	0	.	GRCh38	chr11	7418128	7418128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagtcatggactatgaccGgtgagatacctggaactctt	11	10	11	9	1	2	2	1	2	1	1	2	5	2	4	2	3	3	1	2	3	3	3	rs761794324		11LU022_TP	11LU022_NB	G	G																c.1337G>T	p.Arg446Leu	p.R446L	ENST00000318881	5/7	70	57	13	93	93	0	strelka-varscan-mutect	SYT9,missense_variant,p.Arg446Leu,ENST00000318881,NM_175733.3;SYT9,splice_region_variant,,ENST00000532592,;SYT9,splice_region_variant,,ENST00000524820,;	T	ENST00000318881	Transcript	missense_variant,splice_region_variant	1574/3955	1337/1476	446/491	R/L	cGt/cTt	rs761794324	1		1	SYT9	HGNC	HGNC:19265	protein_coding	YES	CCDS7778.1	ENSP00000324419	Q86SS6		UPI000000DB7B	NM_175733.3	tolerated(0.33)		5/7		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF180,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		rs761794324	.												T	3	4	3	7418128	7418128	G	T	1	0	0	0	0	1	0	0	0	15875	1130	39	1		1	SYT9	11	7418128	Missense_Mutation	SNP	G	11LU022_TP	794861	7418128	127668494	606	1278											
NLRP10	0	.	GRCh38	chr11	7959662	7959662	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttatatgtaagtatttttTggtgtttcctctgtccctct	5	22	7	7	0	2	0	0	0	2	0	4	0	4	0	2	1	0	4	2	1	4	9	novel		11LU022_TP	11LU022_NB	T	T																c.1950A>T	p.=	p.P650P	ENST00000328600	2/2	46	27	19	57	57	0	strelka-varscan-mutect	NLRP10,synonymous_variant,p.=,ENST00000328600,NM_176821.3;NLRP10,downstream_gene_variant,,ENST00000526590,;	A	ENST00000328600	Transcript	synonymous_variant	2112/2350	1950/1968	650/655	P	ccA/ccT		1		-1	NLRP10	HGNC	HGNC:21464	protein_coding	YES	CCDS7784.1	ENSP00000327763	Q86W26		UPI0000167F6C	NM_176821.3			2/2																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	7959662	7959662	T	A	1	0	0	0	0	0	0	0	1	10509	1799	63	4		4	NLRP10	11	7959662	Silent	SNP	T	11LU022_TP	541534	7959662	127126960	607	1279											
PIK3C2A	0	.	GRCh38	chr11	17168897	17168897	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctaatacctccacattaTccaccttaggcttacttaga	11	13	5	12	0	1	1	0	0	1	1	3	1	3	1	4	2	2	1	4	2	6	6	novel		11LU022_TP	11LU022_NB	T	T																c.845A>T	p.Asp282Val	p.D282V	ENST00000265970	1/32	130	95	35	185	185	0	strelka-varscan-mutect	PIK3C2A,missense_variant,p.Asp282Val,ENST00000265970,NM_001321378.1,NM_002645.2;PIK3C2A,downstream_gene_variant,,ENST00000532035,;PIK3C2A,intron_variant,,ENST00000531428,;PIK3C2A,missense_variant,p.Asp282Val,ENST00000533645,;	A	ENST00000265970	Transcript	missense_variant	845/8227	845/5061	282/1686	D/V	gAt/gTt		1		-1	PIK3C2A	HGNC	HGNC:8971	protein_coding	YES	CCDS7824.1	ENSP00000265970	O00443	L7RRS0	UPI000013D6B3	NM_001321378.1,NM_002645.2	deleterious_low_confidence(0)		1/32		hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF28																	MODERATE	1	SNV	1			1										PASS		rs1293039936	.												A	3	1	3	17168897	17168897	T	A	1	0	0	0	0	1	0	0	0	12004	1435	50	4		4	PIK3C2A	11	17168897	Missense_Mutation	SNP	T	11LU022_TP	9209235	17168897	117917725	608	1280											
OTOG	0	.	GRCh38	chr11	17573207	17573207	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcgggcagccctgccTgtgcgccacactggcccact	4	6	12	19	3	0	0	0	0	0	0	0	0	0	0	5	2	4	2	5	2	0	0	novel		11LU022_TP	11LU022_NB	T	T																c.2246T>A	p.Leu749Gln	p.L749Q	ENST00000399391	18/55	162	120	42	166	166	0	strelka-varscan-mutect	OTOG,missense_variant,p.Leu737Gln,ENST00000399397,NM_001292063.1;OTOG,missense_variant,p.Leu749Gln,ENST00000399391,NM_001277269.1;OTOG,downstream_gene_variant,,ENST00000498332,;	A	ENST00000399391	Transcript	missense_variant	2246/8778	2246/8778	749/2925	L/Q	cTg/cAg		1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1	deleterious(0)		18/55		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228,Pfam_domain:PF08742,SMART_domains:SM00832																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	17573207	17573207	T	A	1	0	0	0	0	1	0	0	0	11370	1580	55	4		4	OTOG	11	17573207	Missense_Mutation	SNP	T	11LU022_TP	404310	17573207	117513415	609	1281											
LDHA	0	.	GRCh38	chr11	18402992	18402992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcatgggtgggtccttGgggaacatggagattccagt	7	11	16	7	0	1	1	1	0	0	1	3	3	3	2	2	5	1	1	2	5	1	2	novel		11LU022_TP	11LU022_NB	G	G																c.658G>T	p.Gly220Trp	p.G220W	ENST00000540430	5/8	255	183	72	309	307	2	strelka-varscan-mutect	LDHA,missense_variant,p.Gly191Trp,ENST00000422447,NM_005566.3;LDHA,missense_variant,p.Gly220Trp,ENST00000540430,NM_001165414.1;LDHA,missense_variant,p.Gly191Trp,ENST00000379412,;LDHA,missense_variant,p.Gly191Trp,ENST00000227157,NM_001165416.1;LDHA,missense_variant,p.Gly191Trp,ENST00000396222,NM_001165415.1;LDHA,missense_variant,p.Gly133Trp,ENST00000430553,NM_001135239.1;LDHA,missense_variant,p.Gly191Trp,ENST00000542179,;LDHA,downstream_gene_variant,,ENST00000478970,;LDHA,downstream_gene_variant,,ENST00000495052,;LDHA,downstream_gene_variant,,ENST00000543445,;LDHA,downstream_gene_variant,,ENST00000535451,;LDHA,downstream_gene_variant,,ENST00000625635,;AC084117.3,upstream_gene_variant,,ENST00000496975,;LDHA,3_prime_UTR_variant,,ENST00000545215,;LDHA,3_prime_UTR_variant,,ENST00000486690,;LDHA,3_prime_UTR_variant,,ENST00000543695,;LDHA,3_prime_UTR_variant,,ENST00000536528,;LDHA,non_coding_transcript_exon_variant,,ENST00000375710,;LDHA,non_coding_transcript_exon_variant,,ENST00000537296,;LDHA,non_coding_transcript_exon_variant,,ENST00000538451,;LDHA,non_coding_transcript_exon_variant,,ENST00000460405,;LDHA,intron_variant,,ENST00000541097,;LDHA,downstream_gene_variant,,ENST00000494573,;LDHA,downstream_gene_variant,,ENST00000545467,;LDHA,downstream_gene_variant,,ENST00000539814,;	T	ENST00000540430	Transcript	missense_variant	940/2305	658/1086	220/361	G/W	Ggg/Tgg		1		1	LDHA	HGNC	HGNC:6535	protein_coding	YES	CCDS53609.1	ENSP00000445175	P00338		UPI0001914F68	NM_001165414.1	deleterious(0)		5/8		HAMAP:MF_00488,hmmpanther:PTHR11540:SF17,hmmpanther:PTHR11540,PROSITE_patterns:PS00064,Gene3D:3.90.110.10,Pfam_domain:PF02866,TIGRFAM_domain:TIGR01771,PIRSF_domain:PIRSF000102,Superfamily_domains:SSF56327,Prints_domain:PR00086																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	18402992	18402992	G	T	1	0	0	0	0	1	0	0	0	8605	1348	47	2		2	LDHA	11	18402992	Missense_Mutation	SNP	G	11LU022_TP	829785	18402992	116683630	610	1282											
PTPN5	0	.	GRCh38	chr11	18733360	18733360	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgatgtacaccttctcctCcccaccatagccctgcggcc	6	8	8	19	2	1	0	0	0	1	0	3	1	2	0	7	2	3	1	7	2	2	3	novel		11LU022_TP	11LU022_NB	C	C																c.1093G>T	p.Glu365Ter	p.E365*	ENST00000358540	11/15	171	149	22	175	175	0	strelka-mutect	PTPN5,stop_gained,p.Glu333Ter,ENST00000396170,NM_001039970.1,NM_001278236.1;PTPN5,stop_gained,p.Glu365Ter,ENST00000358540,NM_032781.3,NM_006906.1;PTPN5,stop_gained,p.Glu169Ter,ENST00000477854,;PTPN5,stop_gained,p.Glu341Ter,ENST00000396168,NM_001278238.1,NM_001278239.1;PTPN5,upstream_gene_variant,,ENST00000396166,;RP11-1081L13.4,intron_variant,,ENST00000527285,;	A	ENST00000358540	Transcript	stop_gained	1524/3135	1093/1698	365/565	E/*	Gag/Tag		1		-1	PTPN5	HGNC	HGNC:9657	protein_coding	YES	CCDS7845.1	ENSP00000351342	P54829		UPI00001AE663	NM_032781.3,NM_006906.1			11/15		PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF40,Pfam_domain:PF00102,Gene3D:3.90.190.10,PIRSF_domain:PIRSF001997,SMART_domains:SM00194,Superfamily_domains:SSF52799,Prints_domain:PR01778																	HIGH	1	SNV	1			1										PASS		rs1384350284	.												A	4	1	3	18733360	18733360	C	A	1	0	0	0	0	0	1	0	0	12945	864	30	2		2	PTPN5	11	18733360	Nonsense_Mutation	SNP	C	11LU022_TP	330368	18733360	116353262	611	1283											
FIBIN	0	.	GRCh38	chr11	26994888	26994888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatggcaagtacctgcggcGggagtcccaccagatcgggg	8	6	15	12	3	0	1	0	0	0	1	2	2	1	2	3	5	2	2	3	5	3	2	novel		11LU022_TP	11LU022_NB	G	G																c.362G>T	p.Arg121Leu	p.R121L	ENST00000318627	1/1	55	49	6	68	68	0	strelka-varscan-mutect	FIBIN,missense_variant,p.Arg121Leu,ENST00000318627,NM_203371.1;	T	ENST00000318627	Transcript	missense_variant	705/1938	362/636	121/211	R/L	cGg/cTg		1		1	FIBIN	HGNC	HGNC:33747	protein_coding	YES	CCDS7861.1	ENSP00000321962	Q8TAL6		UPI000003B0F4	NM_203371.1	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR31185:SF0,hmmpanther:PTHR31185,Pfam_domain:PF15819																	MODERATE	1	SNV				1										PASS		rs902469109	.												T	3	4	3	26994888	26994888	G	T	1	0	0	0	0	1	0	0	0	5750	1116	39	1		1	FIBIN	11	26994888	Missense_Mutation	SNP	G	11LU022_TP	8261528	26994888	108091734	612	1284											
BBOX1	0	.	GRCh38	chr11	27093267	27093267	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtggctctccaccctcaAgaaagtaggcatagtaagac	14	7	9	11	0	2	2	1	0	1	2	3	2	2	2	2	2	0	4	2	2	6	3	novel		11LU022_TP	11LU022_NB	A	A																c.434A>G	p.Lys145Arg	p.K145R	ENST00000263182	5/9	239	210	29	234	234	0	strelka-varscan-mutect	BBOX1,missense_variant,p.Lys145Arg,ENST00000263182,NM_003986.2;BBOX1,missense_variant,p.Lys145Arg,ENST00000529202,;BBOX1,missense_variant,p.Lys145Arg,ENST00000528583,;BBOX1,missense_variant,p.Lys145Arg,ENST00000525090,;BBOX1-AS1,intron_variant,,ENST00000530430,;BBOX1-AS1,intron_variant,,ENST00000525302,;BBOX1-AS1,intron_variant,,ENST00000526061,;BBOX1,intron_variant,,ENST00000527505,;	G	ENST00000263182	Transcript	missense_variant	802/1886	434/1164	145/387	K/R	aAg/aGg		1		1	BBOX1	HGNC	HGNC:964	protein_coding	YES	CCDS7862.1	ENSP00000263182	O75936		UPI0000126A4C	NM_003986.2	tolerated(0.99)		5/9		hmmpanther:PTHR10696:SF33,hmmpanther:PTHR10696,TIGRFAM_domain:TIGR02409,Gene3D:3.60.130.10,Pfam_domain:PF02668,Superfamily_domains:SSF51197																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	3	27093267	27093267	A	G	1	0	0	0	0	1	0	0	0	1481	72	3	5		5	BBOX1	11	27093267	Missense_Mutation	SNP	A	11LU022_TP	98379	27093267	107993355	613	1285											
FSHB	0	.	GRCh38	chr11	30233711	30233711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagtggccacccagtgtCactgtggcaagtgtgacagc	9	7	12	13	0	1	1	1	1	0	0	1	1	1	1	3	2	1	1	3	2	1	0	novel		11LU022_TP	11LU022_NB	C	C																c.301C>A	p.His101Asn	p.H101N	ENST00000417547	3/3	392	309	83	381	381	0	strelka-varscan-mutect	FSHB,missense_variant,p.His101Asn,ENST00000417547,NM_001018080.1;FSHB,missense_variant,p.His101Asn,ENST00000254122,NM_000510.2;FSHB,missense_variant,p.His101Asn,ENST00000533718,;	A	ENST00000417547	Transcript	missense_variant	340/1890	301/390	101/129	H/N	Cac/Aac		1		1	FSHB	HGNC	HGNC:3964	protein_coding	YES	CCDS7868.1	ENSP00000416606	P01225	A0A0F7RQE8	UPI000003FF95	NM_001018080.1	deleterious(0.01)		3/3		Gene3D:2.10.90.10,Pfam_domain:PF00007,PROSITE_patterns:PS00689,hmmpanther:PTHR11515,hmmpanther:PTHR11515:SF17,SMART_domains:SM00068,Superfamily_domains:SSF57501																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	30233711	30233711	C	A	1	0	0	0	0	1	0	0	0	5946	826	29	2		2	FSHB	11	30233711	Missense_Mutation	SNP	C	11LU022_TP	3140444	30233711	104852911	614	1286											
KIAA1549L	0	.	GRCh38	chr11	33591404	33591404	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcaagaccgccaaatcCactgaaaccaggaagaggta	17	4	8	12	1	1	3	1	1	0	2	2	4	2	4	5	2	1	1	5	2	5	1	novel		11LU022_TP	11LU022_NB	C	C																c.3843C>A	p.=	p.S1281S	ENST00000321505	11/20	75	52	23	108	108	0	strelka-varscan-mutect	KIAA1549L,synonymous_variant,p.=,ENST00000321505,NM_012194.2;KIAA1549L,synonymous_variant,p.=,ENST00000526400,;KIAA1549L,intron_variant,,ENST00000265654,;	A	ENST00000321505	Transcript	synonymous_variant	4023/11678	3843/5550	1281/1849	S	tcC/tcA		1		1	KIAA1549L	HGNC	HGNC:24836	protein_coding	YES	CCDS44565.2	ENSP00000315295	Q6ZVL6		UPI0000E59322	NM_012194.2			11/20		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3,Pfam_domain:PF12877																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	33591404	33591404	C	A	1	0	0	0	0	0	0	0	1	8121	581	21	2		2	KIAA1549L	11	33591404	Silent	SNP	C	11LU022_TP	3357693	33591404	101495218	615	1287											
LDLRAD3	0	.	GRCh38	chr11	36227192	36227192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatttttgtgctggtggtgGccctgctggcactggtcttg	2	16	14	9	0	2	0	1	0	1	0	2	0	2	0	1	5	2	3	1	5	0	3	novel		11LU022_TP	11LU022_NB	G	G																c.562G>T	p.Ala188Ser	p.A188S	ENST00000315571	5/6	192	163	29	229	229	0	strelka-varscan-mutect	LDLRAD3,missense_variant,p.Ala188Ser,ENST00000315571,NM_174902.3;LDLRAD3,missense_variant,p.Ala178Ser,ENST00000524419,;LDLRAD3,missense_variant,p.Ala139Ser,ENST00000528989,NM_001304263.1;LDLRAD3,non_coding_transcript_exon_variant,,ENST00000529759,;LDLRAD3,non_coding_transcript_exon_variant,,ENST00000534091,;LDLRAD3,intron_variant,,ENST00000532490,;	T	ENST00000315571	Transcript	missense_variant	583/3798	562/1038	188/345	A/S	Gcc/Tcc		1		1	LDLRAD3	HGNC	HGNC:27046	protein_coding	YES	CCDS31462.1	ENSP00000318607	Q86YD5		UPI000003B0FB	NM_174902.3	deleterious(0.03)		5/6		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	36227192	36227192	G	T	1	0	0	0	0	1	0	0	0	8614	1203	42	2		2	LDLRAD3	11	36227192	Missense_Mutation	SNP	G	11LU022_TP	2635788	36227192	98859430	616	1288											
LRRC4C	0	.	GRCh38	chr11	40115884	40115884	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctccattcgggatggtagTaagacgattgtcaaagagtt	12	11	12	6	2	1	2	1	0	0	2	3	4	2	3	1	2	1	4	1	2	3	5	novel		11LU022_TP	11LU022_NB	T	T																c.409A>G	p.Thr137Ala	p.T137A	ENST00000278198	2/2	172	149	23	191	191	0	strelka-varscan-mutect	LRRC4C,missense_variant,p.Thr137Ala,ENST00000278198,;LRRC4C,missense_variant,p.Thr137Ala,ENST00000527150,;LRRC4C,missense_variant,p.Thr137Ala,ENST00000530763,NM_020929.2;LRRC4C,missense_variant,p.Thr137Ala,ENST00000528697,NM_001258419.1;LRRC4C,missense_variant,p.Thr137Ala,ENST00000619527,;LRRC4C,downstream_gene_variant,,ENST00000533474,;RP11-454H19.2,upstream_gene_variant,,ENST00000624239,;	C	ENST00000278198	Transcript	missense_variant	2373/4054	409/1923	137/640	T/A	Act/Gct		1		-1	LRRC4C	HGNC	HGNC:29317	protein_coding	YES	CCDS31464.1	ENSP00000278198	Q9HCJ2		UPI000000D9A7		deleterious(0.02)		2/2		PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF8,Gene3D:3.80.10.10,Pfam_domain:PF13306,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	40115884	40115884	T	C	1	0	0	0	0	1	0	0	0	8903	1638	57	5		5	LRRC4C	11	40115884	Missense_Mutation	SNP	T	11LU022_TP	3888692	40115884	94970738	617	1289											
OR4C6	0	.	GRCh38	chr11	55665808	55665808	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttcttatcttaattgcGtcctacacggtcatcctatg	8	17	5	11	2	4	0	1	0	3	0	6	0	6	0	2	1	2	0	2	1	4	6	rs201210743		11LU022_TP	11LU022_NB	G	G																c.642G>T	p.=	p.A214A	ENST00000314259	1/1	285	240	45	275	275	0	strelka-varscan-mutect	OR4C6,synonymous_variant,p.=,ENST00000314259,NM_001004704.1;	T	ENST00000314259	Transcript	synonymous_variant	642/930	642/930	214/309	A	gcG/gcT	rs201210743	1		1	OR4C6	HGNC	HGNC:14743	protein_coding	YES	CCDS31506.1	ENSP00000324769	Q8NH72	A0A126GVN0	UPI0000041868	NM_001004704.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF80,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs201210743	.												T	2	4	3	55665808	55665808	G	T	1	0	0	0	0	0	0	0	1	11129	1132	40	1		1	OR4C6	11	55665808	Silent	SNP	G	11LU022_TP	15549924	55665808	79420814	618	1290											
OR5F1	0	.	GRCh38	chr11	55994172	55994172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatgaagttcagcaaccCtgcagcaaaagccccggctg	12	5	10	14	1	1	1	1	1	0	0	1	2	1	1	4	1	5	5	4	1	4	1	novel		11LU022_TP	11LU022_NB	C	C																c.454G>T	p.Gly152Trp	p.G152W	ENST00000278409	1/1	183	144	39	187	187	0	strelka-varscan-mutect	OR5F1,missense_variant,p.Gly152Trp,ENST00000278409,NM_003697.1;	A	ENST00000278409	Transcript	missense_variant	454/945	454/945	152/314	G/W	Ggg/Tgg		1		-1	OR5F1	HGNC	HGNC:8343	protein_coding	YES	CCDS31515.1	ENSP00000278409	O95221		UPI0000041D19	NM_003697.1	deleterious(0)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF168,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1360255369	.												A	3	1	3	55994172	55994172	C	A	1	0	0	0	0	1	0	0	0	11228	681	24	2		2	OR5F1	11	55994172	Missense_Mutation	SNP	C	11LU022_TP	328364	55994172	79092450	619	1291											
OR8I2	0	.	GRCh38	chr11	56094082	56094082	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctctgattttcacctatTtgcaacctgataacacatca	11	14	5	11	0	3	2	2	2	1	0	4	2	3	2	2	1	3	1	2	1	3	5	rs781609430		11LU022_TP	11LU022_NB	T	T																c.775T>A	p.Leu259Met	p.L259M	ENST00000302124	1/1	103	91	12	115	115	0	strelka-varscan-mutect	OR8I2,missense_variant,p.Leu259Met,ENST00000302124,NM_001003750.1;OR8I4P,downstream_gene_variant,,ENST00000526965,;	A	ENST00000302124	Transcript	missense_variant	775/933	775/933	259/310	L/M	Ttg/Atg	rs781609430	1		1	OR8I2	HGNC	HGNC:15310	protein_coding	YES	CCDS31517.1	ENSP00000303864	Q8N0Y5		UPI0000041D16	NM_001003750.1	deleterious(0.02)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs781609430	.												A	3	1	3	56094082	56094082	T	A	1	0	0	0	0	1	0	0	0	11308	1838	64	4		4	OR8I2	11	56094082	Missense_Mutation	SNP	T	11LU022_TP	99910	56094082	78992540	620	1292											
OR8H2	0	.	GRCh38	chr11	56105956	56105956	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgctgtcatcagagtcaTgcagagaagacaggactcca	15	7	10	9	0	3	3	3	0	0	3	4	5	4	4	1	1	2	2	1	1	2	0	rs763111162		11LU022_TP	11LU022_NB	T	T																c.914T>G	p.Met305Arg	p.M305R	ENST00000313503	1/1	42	35	7	50	50	0	strelka-varscan-mutect	OR8H2,missense_variant,p.Met304Arg,ENST00000618136,;OR8H2,missense_variant,p.Met305Arg,ENST00000313503,NM_001005200.1;	G	ENST00000313503	Transcript	missense_variant	914/939	914/939	305/312	M/R	aTg/aGg	rs763111162	1		1	OR8H2	HGNC	HGNC:15308	protein_coding	YES	CCDS31518.1	ENSP00000323982	Q8N162		UPI0000041D0C	NM_001005200.1	deleterious(0.03)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs763111162	.												G	3	3	3	56105956	56105956	T	G	1	0	0	0	0	1	0	0	0	11306	1464	51	5		5	OR8H2	11	56105956	Missense_Mutation	SNP	T	11LU022_TP	11874	56105956	78980666	621	1293											
OR8H3	0	.	GRCh38	chr11	56123214	56123214	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgttttatactattgTgattcccatgctgaatccac	8	17	6	10	0	0	2	0	2	0	0	3	2	3	2	3	0	2	2	3	0	4	6	novel		11LU022_TP	11LU022_NB	T	T																c.842T>A	p.Val281Glu	p.V281E	ENST00000313472	1/1	124	103	21	142	142	0	strelka-varscan-mutect	OR8H3,missense_variant,p.Val281Glu,ENST00000313472,NM_001005201.1;	A	ENST00000313472	Transcript	missense_variant	842/939	842/939	281/312	V/E	gTg/gAg		1		1	OR8H3	HGNC	HGNC:15309	protein_coding	YES	CCDS31519.1	ENSP00000323928	Q8N146		UPI0000041D25	NM_001005201.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	3	56123214	56123214	T	A	1	0	0	0	0	1	0	0	0	11307	1696	59	4		4	OR8H3	11	56123214	Missense_Mutation	SNP	T	11LU022_TP	17258	56123214	78963408	622	1294											
OR5M10	0	.	GRCh38	chr11	56577208	56577208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagaaatgattgatttcaaGggagccacagaaggataagt	16	9	12	4	0	1	4	1	2	0	2	1	6	1	6	1	2	1	1	1	2	5	4	novel		11LU022_TP	11LU022_NB	G	G																c.514C>A	p.Leu172Ile	p.L172I	ENST00000526812	1/1	136	99	37	153	153	0	strelka-varscan-mutect	OR5M10,missense_variant,p.Leu172Ile,ENST00000526812,NM_001004741.1;	T	ENST00000526812	Transcript	missense_variant	514/948	514/948	172/315	L/I	Ctt/Att		1		-1	OR5M10	HGNC	HGNC:15290	protein_coding	YES	CCDS53630.1	ENSP00000436004	Q6IEU7		UPI0000041BEE	NM_001004741.1	tolerated(0.08)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF98,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	3	56577208	56577208	G	T	1	0	0	0	0	1	0	0	0	11242	1000	35	2		2	OR5M10	11	56577208	Missense_Mutation	SNP	G	11LU022_TP	453994	56577208	78509414	623	1295											
OR9G1	0	.	GRCh38	chr11	56700516	56700516	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actgtggtaggaaatagcacCctcatcgtgttgatctgtaa	11	12	10	8	1	2	1	1	1	1	0	3	2	2	2	1	2	1	4	1	2	4	4			11LU022_TP	11LU022_NB	C	C																c.129C>A	p.=	p.T43T	ENST00000312153	1/1	520	487	33	500	500	0	varscan-mutect	OR9G1,synonymous_variant,p.=,ENST00000312153,NM_001005213.1;	A	ENST00000312153	Transcript	synonymous_variant	129/918	129/918	43/305	T	acC/acA	COSM344021	1		1	OR9G1	HGNC	HGNC:15319	protein_coding	YES	CCDS31536.1	ENSP00000309012	Q8NH87		UPI0000061E7E	NM_001005213.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF158,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						LOW	1	SNV			1	1										PASS		.	.												A	2	1	3	56700516	56700516	C	A	1	0	0	0	0	0	0	0	1	11317	610	22	2		2	OR9G1	11	56700516	Silent	SNP	C	11LU022_TP	123308	56700516	78386106	624	1296											
SMTNL1	0	.	GRCh38	chr11	57546585	57546585	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaagttcttccctgacgccTttgactacgcagagctggat	9	11	9	12	2	1	3	0	2	1	1	2	4	2	4	2	1	2	3	2	1	2	4	novel		11LU022_TP	11LU022_NB	T	T																c.1273T>A	p.Phe425Ile	p.F425I	ENST00000527972	6/7	277	238	39	302	302	0	strelka-varscan-mutect	SMTNL1,missense_variant,p.Phe425Ile,ENST00000527972,NM_001105565.2;SMTNL1,missense_variant,p.Phe388Ile,ENST00000399154,;	A	ENST00000527972	Transcript	missense_variant	1275/1649	1273/1485	425/494	F/I	Ttt/Att		1		1	SMTNL1	HGNC	HGNC:32394	protein_coding	YES		ENSP00000432651		E9PPJ3	UPI0000D6C18B	NM_001105565.2	deleterious(0)		6/7		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF215,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	57546585	57546585	T	A	1	0	0	0	0	1	0	0	0	15136	1609	56	4		4	SMTNL1	11	57546585	Missense_Mutation	SNP	T	11LU022_TP	846069	57546585	77540037	625	1297											
SMTNL1	0	.	GRCh38	chr11	57546597	57546597	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgacgcctttgactacgcaGagctggatcccgcaaagcgc	9	7	11	14	4	0	3	0	2	0	1	1	4	1	4	2	1	3	3	2	1	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.1285G>C	p.Glu429Gln	p.E429Q	ENST00000527972	6/7	251	213	38	285	285	0	strelka-varscan-mutect	SMTNL1,missense_variant,p.Glu429Gln,ENST00000527972,NM_001105565.2;SMTNL1,missense_variant,p.Glu392Gln,ENST00000399154,;	C	ENST00000527972	Transcript	missense_variant	1287/1649	1285/1485	429/494	E/Q	Gag/Cag		1		1	SMTNL1	HGNC	HGNC:32394	protein_coding	YES		ENSP00000432651		E9PPJ3	UPI0000D6C18B	NM_001105565.2	tolerated(0.25)		6/7		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF215,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	3	57546597	57546597	G	C	1	0	0	0	0	1	0	0	0	15136	943	33	4		4	SMTNL1	11	57546597	Missense_Mutation	SNP	G	11LU022_TP	12	57546597	77540025	626	1298											
OR9I1	0	.	GRCh38	chr11	58119129	58119129	+	Missense_Mutation	SNP	T	T	A																															gcactctgtgcctgcacagaTggtgaataaaaagaactggg																								novel		11LU022_TP	11LU022_NB	T	T																c.316A>T	p.Ile106Phe	p.I106F	ENST00000302610	1/1	254	213	41	233	233	0	strelka-varscan-mutect	OR9I1,missense_variant,p.Ile106Phe,ENST00000302610,NM_001005211.1;OR9Q1,intron_variant,,ENST00000335397,NM_001005212.3;	A	ENST00000302610	Transcript	missense_variant	316/945	316/945	106/314	I/F	Atc/Ttc		1		-1	OR9I1	HGNC	HGNC:14718	protein_coding	YES	CCDS31542.1	ENSP00000302606	Q8NGQ6	A0A126GVJ4	UPI0000041B43	NM_001005211.1	tolerated(1)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF232,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	3	58119129	58119129	T	A	1	0	0	0	0	1	0	0	0	11319	1464	51	4		4	OR9I1	11	58119129	Missense_Mutation	SNP	T	11LU022_TP	572532	58119129	76967493	627	1299	31	2									
OR9I1	0	.	GRCh38	chr11	58119130	58119130	+	Silent	SNP	G	G	T																															cactctgtgcctgcacagatGgtgaataaaaagaactgggc																										11LU022_TP	11LU022_NB	G	G																c.315C>A	p.=	p.T105T	ENST00000302610	1/1	256	216	40	230	230	0	strelka-varscan-mutect	OR9I1,synonymous_variant,p.=,ENST00000302610,NM_001005211.1;OR9Q1,intron_variant,,ENST00000335397,NM_001005212.3;	T	ENST00000302610	Transcript	synonymous_variant	315/945	315/945	105/314	T	acC/acA	COSM1719830	1		-1	OR9I1	HGNC	HGNC:14718	protein_coding	YES	CCDS31542.1	ENSP00000302606	Q8NGQ6	A0A126GVJ4	UPI0000041B43	NM_001005211.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF232,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	3	58119130	58119130	G	T	1	0	0	0	0	0	0	0	1	11319	1335	47	2		2	OR9I1	11	58119130	Silent	SNP	G	11LU022_TP	1	58119130	76967492	628	1300	31	2									
MS4A6A	0	.	GRCh38	chr11	60175497	60175497	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttggtatattatttttgtCcaactcacactgcagtgagg	9	16	9	7	0	1	1	1	1	0	0	2	1	2	1	1	2	2	3	1	2	4	6	novel		11LU022_TP	11LU022_NB	C	C																c.538G>T	p.Asp180Tyr	p.D180Y	ENST00000426738	6/7	219	183	36	276	274	2	strelka-varscan-mutect	MS4A6A,missense_variant,p.Asp152Tyr,ENST00000528851,NM_022349.3;MS4A6A,missense_variant,p.Asp180Tyr,ENST00000426738,NM_001247999.1;MS4A6A,missense_variant,p.Asp152Tyr,ENST00000530839,NM_152852.2;MS4A6A,missense_variant,p.Asp180Tyr,ENST00000412309,;MS4A6A,missense_variant,p.Asp180Tyr,ENST00000529054,;MS4A6A,intron_variant,,ENST00000420732,NM_152851.2;MS4A6A,intron_variant,,ENST00000533023,;MS4A6A,intron_variant,,ENST00000533989,;MS4A6A,downstream_gene_variant,,ENST00000532169,;MS4A6A,downstream_gene_variant,,ENST00000534596,;MS4A6A,downstream_gene_variant,,ENST00000529906,;MS4A6A,3_prime_UTR_variant,,ENST00000527254,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000531914,;MS4A6A,downstream_gene_variant,,ENST00000526677,;MS4A6A,downstream_gene_variant,,ENST00000525549,;MS4A6A,downstream_gene_variant,,ENST00000530179,;	A	ENST00000426738	Transcript	missense_variant	1011/1736	538/762	180/253	D/Y	Gac/Tac		1		-1	MS4A6A	HGNC	HGNC:13375	protein_coding	YES	CCDS58134.1	ENSP00000392770	Q9H2W1		UPI0001F77AB4	NM_001247999.1	deleterious(0)		6/7		hmmpanther:PTHR23320:SF46,hmmpanther:PTHR23320,Pfam_domain:PF04103																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	60175497	60175497	C	A	1	0	0	0	0	1	0	0	0	9843	855	30	2		2	MS4A6A	11	60175497	Missense_Mutation	SNP	C	11LU022_TP	2056367	60175497	74911125	629	1301											
MS4A7	0	.	GRCh38	chr11	60383235	60383235	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacctggacacatgtacCaaaacgaagattacctgcag	17	6	8	10	1	0	2	0	0	0	2	0	4	0	3	3	1	5	2	3	1	6	2	novel		11LU022_TP	11LU022_NB	C	C																c.94C>A	p.Gln32Lys	p.Q32K	ENST00000300184	2/7	126	115	11	119	119	0	strelka-varscan-mutect	MS4A7,missense_variant,p.Gln32Lys,ENST00000358246,NM_206940.1,NM_206938.1;MS4A7,missense_variant,p.Gln32Lys,ENST00000300184,NM_021201.4,NM_206939.1;MS4A7,missense_variant,p.Gln32Lys,ENST00000534016,;MS4A7,missense_variant,p.Gln32Lys,ENST00000530234,;MS4A7,missense_variant,p.Gln32Lys,ENST00000530614,;MS4A7,missense_variant,p.Gln32Lys,ENST00000530027,;MS4A7,missense_variant,p.Gln3Lys,ENST00000528215,;MS4A14,intron_variant,,ENST00000531787,;MS4A7,non_coding_transcript_exon_variant,,ENST00000528808,;MS4A7,non_coding_transcript_exon_variant,,ENST00000528500,;MS4A6E,intron_variant,,ENST00000532756,;MS4A7,upstream_gene_variant,,ENST00000534310,;	A	ENST00000300184	Transcript	missense_variant	290/1869	94/723	32/240	Q/K	Caa/Aaa		1		1	MS4A7	HGNC	HGNC:13378	protein_coding	YES	CCDS7985.1	ENSP00000300184	Q9GZW8	A0A024R556	UPI0000043671	NM_021201.4,NM_206939.1	tolerated(0.14)		2/7		hmmpanther:PTHR23320:SF8,hmmpanther:PTHR23320																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	60383235	60383235	C	A	1	0	0	0	0	1	0	0	0	9845	595	21	2		2	MS4A7	11	60383235	Missense_Mutation	SNP	C	11LU022_TP	207738	60383235	74703387	630	1302											
TMEM109	0	.	GRCh38	chr11	60922123	60922123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagctgcgctggcgccaGaggcgagcggccaagggggc	7	2	21	11	4	0	1	0	0	0	1	0	4	0	2	2	6	3	2	2	6	1	0			11LU022_TP	11LU022_NB	G	G																c.690G>T	p.Gln230His	p.Q230H	ENST00000227525	4/4	115	86	29	198	197	1	strelka-varscan-mutect	TMEM109,missense_variant,p.Gln230His,ENST00000227525,NM_024092.2;TMEM109,missense_variant,p.Gln230His,ENST00000536171,;TMEM132A,upstream_gene_variant,,ENST00000005286,NM_017870.3;TMEM132A,upstream_gene_variant,,ENST00000453848,NM_178031.2;TMEM132A,upstream_gene_variant,,ENST00000544065,;RP11-881M11.4,intron_variant,,ENST00000543907,;TMEM132A,upstream_gene_variant,,ENST00000543732,;TMEM109,upstream_gene_variant,,ENST00000540280,;TMEM132A,upstream_gene_variant,,ENST00000540276,;TMEM132A,upstream_gene_variant,,ENST00000537110,;TMEM132A,upstream_gene_variant,,ENST00000537065,;TMEM132A,upstream_gene_variant,,ENST00000544098,;TMEM132A,upstream_gene_variant,,ENST00000534983,;	T	ENST00000227525	Transcript	missense_variant	1093/2413	690/732	230/243	Q/H	caG/caT	COSM5089759,COSM5517423	1		1	TMEM109	HGNC	HGNC:28771	protein_coding	YES	CCDS7996.1	ENSP00000227525	Q9BVC6		UPI0000072CF3	NM_024092.2	deleterious(0)		4/4		hmmpanther:PTHR14550,hmmpanther:PTHR14550:SF2,Pfam_domain:PF14965,PD178468											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	3	60922123	60922123	G	T	1	0	0	0	0	1	0	0	0	16469	933	33	2		2	TMEM109	11	60922123	Missense_Mutation	SNP	G	11LU022_TP	538888	60922123	74164499	631	1303											
CD6	0	.	GRCh38	chr11	61017895	61017895	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcaggggaggattactgCaatagtcccaaaagcaagct	13	9	10	9	0	2	0	1	0	1	0	3	2	3	2	1	3	4	3	1	3	6	3	novel		11LU022_TP	11LU022_NB	C	C																c.1719C>A	p.Cys573Ter	p.C573*	ENST00000313421	11/13	499	437	62	564	564	0	strelka-varscan-mutect	CD6,stop_gained,p.Cys573Ter,ENST00000313421,NM_006725.4;CD6,stop_gained,p.Cys541Ter,ENST00000352009,NM_001254750.1;CD6,stop_gained,p.Cys532Ter,ENST00000452451,NM_001254751.1;CD6,downstream_gene_variant,,ENST00000433107,;CD6,downstream_gene_variant,,ENST00000542157,;CD6,downstream_gene_variant,,ENST00000538611,;CD6,downstream_gene_variant,,ENST00000545105,;CD6,3_prime_UTR_variant,,ENST00000344931,;CD6,non_coding_transcript_exon_variant,,ENST00000505761,;CD6,downstream_gene_variant,,ENST00000419282,;	A	ENST00000313421	Transcript	stop_gained	1905/3252	1719/2007	573/668	C/*	tgC/tgA		1		1	CD6	HGNC	HGNC:1691	protein_coding	YES	CCDS7999.1	ENSP00000323280	P30203		UPI000013F532	NM_006725.4			11/13																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	3	61017895	61017895	C	A	1	0	0	0	0	0	1	0	0	2732	718	25	2		2	CD6	11	61017895	Nonsense_Mutation	SNP	C	11LU022_TP	95772	61017895	74068727	632	1304											
STX5	0	.	GRCh38	chr11	62825473	62825473	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcaggtgccggccacTctggctgcccttggctctca	3	10	13	15	1	3	0	1	0	3	0	4	0	3	0	3	5	3	3	3	5	0	1	novel		11LU022_TP	11LU022_NB	T	T																c.490A>T	p.Ser164Cys	p.S164C	ENST00000294179	6/11	209	173	36	254	254	0	strelka-varscan-mutect	STX5,missense_variant,p.Ser164Cys,ENST00000294179,NM_003164.4;STX5,missense_variant,p.Ser164Cys,ENST00000377897,NM_001244666.1;STX5,missense_variant,p.Ser110Cys,ENST00000394690,;STX5,missense_variant,p.Ser19Cys,ENST00000431400,;STX5,missense_variant,p.Ser164Cys,ENST00000491231,;STX5,3_prime_UTR_variant,,ENST00000492066,;STX5,downstream_gene_variant,,ENST00000488303,;STX5,downstream_gene_variant,,ENST00000486437,;	A	ENST00000294179	Transcript	missense_variant	644/1794	490/1068	164/355	S/C	Agt/Tgt		1		-1	STX5	HGNC	HGNC:11440	protein_coding	YES	CCDS8038.2	ENSP00000294179	Q13190		UPI00001FA9B0	NM_003164.4	deleterious(0.02)		6/11		hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF3,Gene3D:1.20.58.70,Superfamily_domains:SSF47661																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	62825473	62825473	T	A	1	0	0	0	0	1	0	0	0	15732	1551	54	4		4	STX5	11	62825473	Missense_Mutation	SNP	T	11LU022_TP	1807578	62825473	72261149	633	1305											
SLC22A6	0	.	GRCh38	chr11	62983581	62983581	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagccagagccatgcccGagaggagccggaaggcgcag	10	2	16	13	3	0	2	0	0	0	2	0	5	0	4	5	3	5	1	5	3	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.584C>A	p.Ser195Ter	p.S195*	ENST00000377871	3/10	245	212	33	308	308	0	strelka-varscan-mutect	SLC22A6,stop_gained,p.Ser195Ter,ENST00000377871,NM_004790.4;SLC22A6,stop_gained,p.Ser195Ter,ENST00000360421,NM_153276.2;SLC22A6,stop_gained,p.Ser195Ter,ENST00000421062,NM_153278.2;SLC22A6,stop_gained,p.Ser195Ter,ENST00000458333,NM_153277.2;SLC22A6,non_coding_transcript_exon_variant,,ENST00000537349,;SLC22A6,synonymous_variant,p.=,ENST00000540654,;	T	ENST00000377871	Transcript	stop_gained	851/2151	584/1692	195/563	S/*	tCg/tAg		1		-1	SLC22A6	HGNC	HGNC:10970	protein_coding	YES	CCDS31591.1	ENSP00000367102	Q4U2R8		UPI00000747EC	NM_004790.4			3/10		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF231,Gene3D:1.20.1250.20,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00898,Superfamily_domains:SSF103473																	HIGH	1	SNV	1			1										PASS		rs1249164896	.												T	4	4	3	62983581	62983581	G	T	1	0	0	0	0	0	1	0	0	14724	1059	37	1		1	SLC22A6	11	62983581	Nonsense_Mutation	SNP	G	11LU022_TP	158108	62983581	72103041	634	1306											
STIP1	0	.	GRCh38	chr11	64203153	64203153	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatacacggaaagccgctgcGctggaagcgatgaaggacta	13	6	13	9	4	0	1	0	1	0	0	0	5	0	4	1	3	4	2	1	3	6	3	rs2070232		11LU022_TP	11LU022_NB	G	G																c.1452G>T	p.=	p.A484A	ENST00000358794	12/14	250	223	27	331	331	0	strelka-varscan-mutect	STIP1,synonymous_variant,p.=,ENST00000358794,NM_001282652.1;STIP1,synonymous_variant,p.=,ENST00000305218,NM_006819.2;STIP1,synonymous_variant,p.=,ENST00000538945,NM_001282653.1;STIP1,synonymous_variant,p.=,ENST00000540887,;FERMT3,upstream_gene_variant,,ENST00000279227,NM_178443.2;FERMT3,upstream_gene_variant,,ENST00000345728,NM_031471.5;FERMT3,upstream_gene_variant,,ENST00000544997,;FERMT3,upstream_gene_variant,,ENST00000541252,;STIP1,downstream_gene_variant,,ENST00000537479,;STIP1,intron_variant,,ENST00000536973,;STIP1,downstream_gene_variant,,ENST00000538497,;STIP1,downstream_gene_variant,,ENST00000355603,;	T	ENST00000358794	Transcript	synonymous_variant	2005/2743	1452/1773	484/590	A	gcG/gcT	rs2070232	1		1	STIP1	HGNC	HGNC:11387	protein_coding	YES	CCDS60827.1	ENSP00000351646	P31948		UPI00001FAA4C	NM_001282652.1			12/14		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR22904:SF371,hmmpanther:PTHR22904,Gene3D:1.25.40.10,Pfam_domain:PF13181,SMART_domains:SM00028,Superfamily_domains:SSF48452																	LOW	1	SNV	1			1										PASS		rs2070232	.												T	2	4	3	64203153	64203153	G	T	1	0	0	0	0	0	0	0	1	15662	1074	38	1		1	STIP1	11	64203153	Silent	SNP	G	11LU022_TP	1219572	64203153	70883469	635	1307											
GPR137	0	.	GRCh38	chr11	64284685	64284685	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccgcctccctccagcaccCcgggctccgggccctagttg	3	7	11	20	3	0	0	0	0	0	0	3	0	3	0	8	2	2	3	8	2	1	2	rs558907072		11LU022_TP	11LU022_NB	C	C																c.81C>A	p.=	p.P27P	ENST00000411458	2/9	131	92	39	167	167	0	strelka-varscan-mutect	GPR137,synonymous_variant,p.=,ENST00000411458,NM_001170726.1;GPR137,intron_variant,,ENST00000546139,;GPR137,intron_variant,,ENST00000538244,;GPR137,upstream_gene_variant,,ENST00000539851,NM_001177358.1;GPR137,upstream_gene_variant,,ENST00000438980,NM_001170880.1;GPR137,upstream_gene_variant,,ENST00000313074,NM_020155.3;GPR137,upstream_gene_variant,,ENST00000377702,NM_001170881.1;BAD,upstream_gene_variant,,ENST00000394532,NM_004322.3;GPR137,upstream_gene_variant,,ENST00000539833,;BAD,upstream_gene_variant,,ENST00000309032,NM_032989.2;GPR137,upstream_gene_variant,,ENST00000543383,;GPR137,upstream_gene_variant,,ENST00000536667,;BAD,upstream_gene_variant,,ENST00000394531,;GPR137,upstream_gene_variant,,ENST00000538032,;GPR137,upstream_gene_variant,,ENST00000535675,;GPR137,upstream_gene_variant,,ENST00000540370,;BAD,upstream_gene_variant,,ENST00000544785,;GPR137,upstream_gene_variant,,ENST00000541952,;GPR137,upstream_gene_variant,,ENST00000542190,;GPR137,upstream_gene_variant,,ENST00000536282,;BAD,non_coding_transcript_exon_variant,,ENST00000544271,;GPR137,upstream_gene_variant,,ENST00000536017,;GPR137,upstream_gene_variant,,ENST00000546201,;GPR137,upstream_gene_variant,,ENST00000545366,;	A	ENST00000411458	Transcript	synonymous_variant	109/1495	81/1428	27/475	P	ccC/ccA	rs558907072	1		1	GPR137	HGNC	HGNC:24300	protein_coding	YES	CCDS53655.1	ENSP00000411827	Q96N19		UPI00017A7FAD	NM_001170726.1			2/9																			LOW		SNV	2			1										PASS		rs558907072	.												A	2	1	3	64284685	64284685	C	A	1	0	0	0	0	0	0	0	1	6531	637	22	2		2	GPR137	11	64284685	Silent	SNP	C	11LU022_TP	81532	64284685	70801937	636	1308											
MAP4K2	0	.	GRCh38	chr11	64801125	64801125	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccagtagggagtcccAatgaaagacctcctcttggc	10	8	9	14	0	2	2	1	1	1	1	4	3	4	3	5	2	0	1	5	2	3	2	novel		11LU022_TP	11LU022_NB	A	A																c.516T>C	p.=	p.I172I	ENST00000294066	8/32	207	156	51	305	305	0	strelka-varscan-mutect	MAP4K2,synonymous_variant,p.=,ENST00000294066,NM_004579.3;MAP4K2,synonymous_variant,p.=,ENST00000377350,NM_001307990.1;MAP4K2,synonymous_variant,p.=,ENST00000439069,;MEN1,downstream_gene_variant,,ENST00000337652,NM_130803.2;MEN1,downstream_gene_variant,,ENST00000394374,NM_000244.3,NM_130801.2,NM_130800.2,NM_130802.2;MEN1,downstream_gene_variant,,ENST00000377326,;MEN1,downstream_gene_variant,,ENST00000315422,;MEN1,downstream_gene_variant,,ENST00000394376,NM_130804.2;MEN1,downstream_gene_variant,,ENST00000377316,;MEN1,downstream_gene_variant,,ENST00000312049,NM_130799.2;MEN1,downstream_gene_variant,,ENST00000377321,;MEN1,downstream_gene_variant,,ENST00000377313,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000468062,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000482314,;MEN1,downstream_gene_variant,,ENST00000487019,;MAP4K2,3_prime_UTR_variant,,ENST00000435926,;MAP4K2,3_prime_UTR_variant,,ENST00000433890,;MAP4K2,non_coding_transcript_exon_variant,,ENST00000493428,;MAP4K2,upstream_gene_variant,,ENST00000470088,;MAP4K2,upstream_gene_variant,,ENST00000489952,;MEN1,downstream_gene_variant,,ENST00000478548,;MAP4K2,upstream_gene_variant,,ENST00000424945,;MAP4K2,upstream_gene_variant,,ENST00000467689,;MAP4K2,downstream_gene_variant,,ENST00000444560,;	G	ENST00000294066	Transcript	synonymous_variant	608/7178	516/2463	172/820	I	atT/atC		1		-1	MAP4K2	HGNC	HGNC:6864	protein_coding	YES	CCDS8082.1	ENSP00000294066	Q12851	A0A024R567	UPI000013E13D	NM_004579.3			8/32		PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF392,hmmpanther:PTHR24361,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF038172,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		rs1242795941	.												G	2	3	3	64801125	64801125	A	G	1	0	0	0	0	0	0	0	1	9184	126	5	5		5	MAP4K2	11	64801125	Silent	SNP	A	11LU022_TP	516440	64801125	70285497	637	1309											
CDC42BPG	0	.	GRCh38	chr11	64829608	64829608	+	Missense_Mutation	SNP	C	C	A																															ccacggcacccagtgcctcaCccaggcccccgcgggatggt																								rs571011118		11LU022_TP	11LU022_NB	C	C																c.3830G>T	p.Gly1277Val	p.G1277V	ENST00000342711	30/37	460	402	58	594	594	0	strelka-varscan-mutect	CDC42BPG,missense_variant,p.Gly1277Val,ENST00000342711,NM_017525.2;CDC42BPG,downstream_gene_variant,,ENST00000491280,;CDC42BPG,downstream_gene_variant,,ENST00000468512,;CDC42BPG,downstream_gene_variant,,ENST00000480767,;	A	ENST00000342711	Transcript	missense_variant	3830/5742	3830/4656	1277/1551	G/V	gGt/gTt	rs571011118	1		-1	CDC42BPG	HGNC	HGNC:29829	protein_coding	YES	CCDS31601.1	ENSP00000345133	Q6DT37		UPI000047C9E2	NM_017525.2	tolerated(0.1)		30/37		Low_complexity_(Seg):seg,PROSITE_profiles:PS50219,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF22,Pfam_domain:PF00780,SMART_domains:SM00036																	MODERATE	1	SNV	1			1										PASS		rs571011118	.												A	3	1	3	64829608	64829608	C	A	1	0	0	0	0	1	0	0	0	2777	507	18	2		2	CDC42BPG	11	64829608	Missense_Mutation	SNP	C	11LU022_TP	28483	64829608	70257014	638	1310	32	2									
CDC42BPG	0	.	GRCh38	chr11	64829615	64829615	+	Missense_Mutation	SNP	C	C	A																															acccagtgcctcacccaggcCcccgcgggatggtggcagct																								novel		11LU022_TP	11LU022_NB	C	C																c.3823G>T	p.Gly1275Cys	p.G1275C	ENST00000342711	30/37	491	429	62	621	620	1	strelka-varscan-mutect	CDC42BPG,missense_variant,p.Gly1275Cys,ENST00000342711,NM_017525.2;CDC42BPG,downstream_gene_variant,,ENST00000491280,;CDC42BPG,downstream_gene_variant,,ENST00000468512,;CDC42BPG,downstream_gene_variant,,ENST00000480767,;	A	ENST00000342711	Transcript	missense_variant	3823/5742	3823/4656	1275/1551	G/C	Ggc/Tgc		1		-1	CDC42BPG	HGNC	HGNC:29829	protein_coding	YES	CCDS31601.1	ENSP00000345133	Q6DT37		UPI000047C9E2	NM_017525.2	tolerated(0.11)		30/37		Low_complexity_(Seg):seg,PROSITE_profiles:PS50219,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF22,Pfam_domain:PF00780,SMART_domains:SM00036																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	64829615	64829615	C	A	1	0	0	0	0	1	0	0	0	2777	623	22	2		2	CDC42BPG	11	64829615	Missense_Mutation	SNP	C	11LU022_TP	7	64829615	70257007	639	1311	32	2									
TSGA10IP	0	.	GRCh38	chr11	65959301	65959301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtggacagagagggcaccCccaggaaacccaggtgagtc	12	3	15	11	0	0	2	0	1	0	1	1	5	0	4	3	5	1	1	3	5	1	0	novel		11LU022_TP	11LU022_NB	C	C																c.1534C>A	p.Pro512Thr	p.P512T	ENST00000532620	7/8	123	110	13	162	162	0	strelka-varscan-mutect	TSGA10IP,missense_variant,p.Pro512Thr,ENST00000532620,NM_152762.2;SART1,upstream_gene_variant,,ENST00000312397,NM_005146.4;SART1,upstream_gene_variant,,ENST00000528573,;TSGA10IP,3_prime_UTR_variant,,ENST00000608857,;TSGA10IP,3_prime_UTR_variant,,ENST00000534740,;SART1,upstream_gene_variant,,ENST00000529532,;SART1,upstream_gene_variant,,ENST00000532333,;SART1,upstream_gene_variant,,ENST00000530251,;	A	ENST00000532620	Transcript	missense_variant	1765/1925	1534/1671	512/556	P/T	Ccc/Acc		1		1	TSGA10IP	HGNC	HGNC:26555	protein_coding	YES	CCDS66138.1	ENSP00000484252	Q3SY00		UPI0000EE47ED	NM_152762.2	tolerated(0.1)		7/8		hmmpanther:PTHR21501,hmmpanther:PTHR21501:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	65959301	65959301	C	A	1	0	0	0	0	1	0	0	0	17124	623	22	2		2	TSGA10IP	11	65959301	Missense_Mutation	SNP	C	11LU022_TP	1129686	65959301	69127321	640	1312											
CATSPER1	0	.	GRCh38	chr11	66026228	66026228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagattcaccacgttggtggGgcacgccgtgatggtgcaac	8	8	15	10	3	1	2	1	1	0	1	1	3	1	2	2	4	2	3	2	4	1	2	novel		11LU022_TP	11LU022_NB	G	G																c.152C>T	p.Pro51Leu	p.P51L	ENST00000312106	1/12	106	88	18	175	175	0	strelka-varscan-mutect	CATSPER1,missense_variant,p.Pro51Leu,ENST00000312106,NM_053054.3;	A	ENST00000312106	Transcript	missense_variant	290/2619	152/2343	51/780	P/L	cCc/cTc		1		-1	CATSPER1	HGNC	HGNC:17116	protein_coding	YES	CCDS8127.1	ENSP00000309052	Q8NEC5		UPI000045651C	NM_053054.3	tolerated(0.28)		1/12																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	66026228	66026228	G	A	1	0	0	0	0	1	0	0	0	2387	1232	43	3		3	CATSPER1	11	66026228	Missense_Mutation	SNP	G	11LU022_TP	66927	66026228	69060394	641	1313											
IGHMBP2	0	.	GRCh38	chr11	68911464	68911464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacattcttcaacacctGcctggacacctcccagaaag	11	8	7	15	0	2	2	1	1	1	1	3	3	3	3	4	1	2	1	4	1	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.572G>T	p.Cys191Phe	p.C191F	ENST00000255078	5/15	341	263	78	452	451	1	strelka-varscan-mutect	IGHMBP2,missense_variant,p.Cys191Phe,ENST00000255078,NM_002180.2;IGHMBP2,synonymous_variant,p.=,ENST00000539224,;IGHMBP2,3_prime_UTR_variant,,ENST00000544541,;IGHMBP2,downstream_gene_variant,,ENST00000545146,;	T	ENST00000255078	Transcript	missense_variant	683/3961	572/2982	191/993	C/F	tGc/tTc		1		1	IGHMBP2	HGNC	HGNC:5542	protein_coding	YES	CCDS8187.1	ENSP00000255078	P38935		UPI000013CE82	NM_002180.2	deleterious(0)		5/15		Gene3D:3.40.50.300,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF375,SMART_domains:SM00487,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00376																	MODERATE	1	SNV	1			1										PASS		rs1242233592	.												T	3	4	3	68911464	68911464	G	T	1	0	0	0	0	1	0	0	0	7498	1319	46	2		2	IGHMBP2	11	68911464	Missense_Mutation	SNP	G	11LU022_TP	2885236	68911464	66175158	642	1314											
NUMA1	0	.	GRCh38	chr11	72004639	72004639	+	Splice_Site	DEL	C	C	-																															cccaggagccaccgcgcctaCctcaggagttccagggccct																								novel		11LU022_TP	11LU022_NB	C	C																c.6006+1delG		p.X2002_splice	ENST00000393695		98	71	27	104	104	0	sindel-varindel-pindel	NUMA1,splice_donor_variant,,ENST00000393695,NM_006185.3;NUMA1,splice_donor_variant,,ENST00000358965,NM_001286561.1;NUMA1,splice_donor_variant,,ENST00000620566,;NUMA1,splice_donor_variant,,ENST00000616538,;NUMA1,splice_donor_variant,,ENST00000613205,;NUMA1,splice_donor_variant,,ENST00000351960,;NUMA1,splice_donor_variant,,ENST00000541584,;IL18BP,downstream_gene_variant,,ENST00000497194,NM_005699.3;IL18BP,downstream_gene_variant,,ENST00000404792,NM_173042.2;IL18BP,downstream_gene_variant,,ENST00000393703,NM_001039660.1;IL18BP,downstream_gene_variant,,ENST00000337131,;IL18BP,downstream_gene_variant,,ENST00000620017,NM_173044.2;IL18BP,downstream_gene_variant,,ENST00000393705,NM_001039659.1;IL18BP,downstream_gene_variant,,ENST00000260049,NM_001145057.1;IL18BP,downstream_gene_variant,,ENST00000393707,NM_001145055.1;IL18BP,downstream_gene_variant,,ENST00000531053,;NUMA1,downstream_gene_variant,,ENST00000541262,;IL18BP,downstream_gene_variant,,ENST00000525932,;IL18BP,downstream_gene_variant,,ENST00000531777,;IL18BP,downstream_gene_variant,,ENST00000414358,;NUMA1,splice_donor_variant,,ENST00000540626,;IL18BP,intron_variant,,ENST00000343898,;NUMA1,downstream_gene_variant,,ENST00000545721,;IL18BP,downstream_gene_variant,,ENST00000534583,;NUMA1,downstream_gene_variant,,ENST00000546036,;	-	ENST00000393695	Transcript	splice_donor_variant	-/7343	6006/6348	2002/2115				1		-1	NUMA1	HGNC	HGNC:8059	protein_coding	YES	CCDS31633.1	ENSP00000377298	Q14980		UPI000013DB8B	NM_006185.3				24/26																		HIGH	1	deletion	1			1										PASS		.	.												-	8	5	3	72004639	72004639	C	-	1	0	1	0	1	0	0	1	0	10815	521	18	0		0	NUMA1	11	72004639	Splice_Site	DEL	C	11LU022_TP	3093175	72004639	63081983	643	1315											
P4HA3	0	.	GRCh38	chr11	74276986	74276986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattgactccaccattaccGtagcatggtcaaagtgaggc	11	10	9	11	1	2	2	2	2	0	0	3	2	3	2	3	2	2	2	3	2	3	3	rs150789452		11LU022_TP	11LU022_NB	G	G																c.1334C>T	p.Thr445Met	p.T445M	ENST00000427714	9/13	83	61	22	70	70	0	strelka-varscan-mutect	P4HA3,missense_variant,p.Thr445Met,ENST00000331597,NM_182904.4;P4HA3,missense_variant,p.Thr445Met,ENST00000427714,NM_001288748.1;P4HA3,splice_region_variant,,ENST00000524388,;P4HA3,intron_variant,,ENST00000525968,;	A	ENST00000427714	Transcript	missense_variant,splice_region_variant	1363/2248	1334/1815	445/604	T/M	aCg/aTg	rs150789452,COSM283665	1		-1	P4HA3	HGNC	HGNC:30135	protein_coding	YES	CCDS73347.1	ENSP00000401749	Q7Z4N8		UPI00017A7E1B	NM_001288748.1	deleterious(0.04)		9/13		Pfam_domain:PF13640,hmmpanther:PTHR10869,hmmpanther:PTHR10869:SF69,SMART_domains:SM00702											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs150789452	.												A	3	1	3	74276986	74276986	G	A	1	0	0	0	0	1	0	0	0	11435	1159	40	1		1	P4HA3	11	74276986	Missense_Mutation	SNP	G	11LU022_TP	2272347	74276986	60809636	644	1316											
USP35	0	.	GRCh38	chr11	78210632	78210632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgttttaccggcagcGgcccagggaggggcccgagg	5	7	18	11	3	0	0	0	0	0	0	0	2	0	1	3	6	3	3	3	6	1	2	rs771087419		11LU022_TP	11LU022_NB	G	G																c.2777G>T	p.Arg926Leu	p.R926L	ENST00000529308	10/11	70	59	11	93	93	0	strelka-varscan-mutect	USP35,missense_variant,p.Arg926Leu,ENST00000529308,NM_020798.2;USP35,missense_variant,p.Arg657Leu,ENST00000526425,;USP35,missense_variant,p.Arg494Leu,ENST00000530267,;GAB2,downstream_gene_variant,,ENST00000361507,NM_080491.2;GAB2,downstream_gene_variant,,ENST00000340149,NM_012296.3;USP35,downstream_gene_variant,,ENST00000528910,;USP35,non_coding_transcript_exon_variant,,ENST00000530535,;USP35,3_prime_UTR_variant,,ENST00000530546,;USP35,downstream_gene_variant,,ENST00000530521,;	T	ENST00000529308	Transcript	missense_variant	3038/4216	2777/3057	926/1018	R/L	cGg/cTg	rs771087419,COSM4979159,COSM4979160	1		1	USP35	HGNC	HGNC:20061	protein_coding	YES	CCDS41693.1	ENSP00000431876	Q9P2H5		UPI0000456553	NM_020798.2	deleterious(0.04)		10/11		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF500,hmmpanther:PTHR24006,Superfamily_domains:SSF54001											0,1,1						MODERATE		SNV	5		0,1,1	1										PASS		rs771087419	.												T	3	4	3	78210632	78210632	G	T	1	0	0	0	0	1	0	0	0	17608	1116	39	1		1	USP35	11	78210632	Missense_Mutation	SNP	G	11LU022_TP	3933646	78210632	56875990	645	1317											
TENM4	0	.	GRCh38	chr11	78891238	78891238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaatggggatgtcacctacCcgtcactgtaagccccatca	11	8	9	13	1	3	1	3	0	0	1	3	2	3	2	4	2	2	1	4	2	3	2	novel		11LU022_TP	11LU022_NB	C	C																c.848G>T	p.Gly283Val	p.G283V	ENST00000278550	8/34	107	71	36	128	128	0	strelka-varscan-mutect	TENM4,missense_variant,p.Gly283Val,ENST00000278550,NM_001098816.2;TENM4,missense_variant,p.Gly128Val,ENST00000533074,;TENM4,splice_region_variant,,ENST00000533013,;	A	ENST00000278550	Transcript	missense_variant,splice_region_variant	1311/14000	848/8310	283/2769	G/V	gGg/gTg		1		-1	TENM4	HGNC	HGNC:29945	protein_coding	YES	CCDS44688.1	ENSP00000278550	Q6N022		UPI0000DD8112	NM_001098816.2	tolerated_low_confidence(0.09)		8/34		Pfam_domain:PF06484,PROSITE_profiles:PS51361																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	78891238	78891238	C	A	1	0	0	0	0	1	0	0	0	16174	637	22	2		2	TENM4	11	78891238	Missense_Mutation	SNP	C	11LU022_TP	680606	78891238	56195384	646	1318											
PRSS23	0	.	GRCh38	chr11	86808302	86808302	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgagcagatgaaatttcAgtggatccgggtgaaacgca	12	7	13	9	3	1	3	1	2	0	1	2	5	2	4	2	2	2	2	2	2	2	1	novel		11LU022_TP	11LU022_NB	A	A																c.659A>T	p.Gln220Leu	p.Q220L	ENST00000280258	2/2	182	164	18	198	198	0	strelka-varscan-mutect	PRSS23,missense_variant,p.Gln220Leu,ENST00000280258,NM_001293180.1,NM_001293178.1,NM_007173.5,NM_001293179.1;PRSS23,intron_variant,,ENST00000533902,;PRSS23,downstream_gene_variant,,ENST00000527521,;PRSS23,intron_variant,,ENST00000531475,;PRSS23,intron_variant,,ENST00000533880,;PRSS23,intron_variant,,ENST00000532234,;	T	ENST00000280258	Transcript	missense_variant	1084/4015	659/1152	220/383	Q/L	cAg/cTg		1		1	PRSS23	HGNC	HGNC:14370	protein_coding	YES	CCDS8278.1	ENSP00000280258	O95084		UPI0000048EBC	NM_001293180.1,NM_001293178.1,NM_007173.5,NM_001293179.1	deleterious(0.01)		2/2		Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR15462,hmmpanther:PTHR15462:SF10,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	86808302	86808302	A	T	1	0	0	0	0	1	0	0	0	12767	188	7	4		4	PRSS23	11	86808302	Missense_Mutation	SNP	A	11LU022_TP	7917064	86808302	48278320	647	1319											
GRM5	0	.	GRCh38	chr11	88850136	88850136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atatctttgaaggcttccatCccactttctccatagttgcc	8	15	5	13	0	2	1	0	1	2	0	5	1	4	1	4	1	1	2	4	1	3	6	novel		11LU022_TP	11LU022_NB	C	C																c.681G>A	p.=	p.G227G	ENST00000305447	2/9	139	94	45	155	155	0	strelka-varscan-mutect	GRM5,synonymous_variant,p.=,ENST00000455756,NM_000842.4;GRM5,synonymous_variant,p.=,ENST00000305447,NM_001143831.2;GRM5,synonymous_variant,p.=,ENST00000305432,;	T	ENST00000305447	Transcript	synonymous_variant	831/4571	681/3639	227/1212	G	ggG/ggA		1		-1	GRM5	HGNC	HGNC:4597	protein_coding	YES	CCDS44694.1	ENSP00000306138	P41594		UPI000012F081	NM_001143831.2			2/9		Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30,Superfamily_domains:SSF53822																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	88850136	88850136	C	T	1	0	0	0	0	0	0	0	1	6682	842	30	3		3	GRM5	11	88850136	Silent	SNP	C	11LU022_TP	2041834	88850136	46236486	648	1320											
FAT3	0	.	GRCh38	chr11	92836598	92836598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgtagacagccagcccaaCggacagattcatttttccat	12	10	8	11	1	1	2	1	0	0	2	2	4	2	3	3	1	3	1	3	1	2	4	rs140093319		11LU022_TP	11LU022_NB	C	C																c.9669C>A	p.Asn3223Lys	p.N3223K	ENST00000525166	15/27	105	57	48	98	98	0	strelka-varscan-mutect	FAT3,missense_variant,p.Asn3373Lys,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Asn3223Lys,ENST00000525166,;	A	ENST00000525166	Transcript	missense_variant	9691/18699	9669/13320	3223/4439	N/K	aaC/aaA	rs140093319	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		deleterious(0)		15/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		rs140093319	.												A	3	1	3	92836598	92836598	C	A	1	0	0	0	0	1	0	0	0	5551	535	19	1		1	FAT3	11	92836598	Missense_Mutation	SNP	C	11LU022_TP	3986462	92836598	42250024	649	1321											
MTNR1B	0	.	GRCh38	chr11	92982056	92982056	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcgctgtggccatcaaccCccaagaaatggctccccaga	10	6	8	17	1	1	2	1	0	0	2	3	2	2	2	6	2	1	2	6	2	3	0			11LU022_TP	11LU022_NB	C	C																c.833C>A	p.Pro278His	p.P278H	ENST00000257068	2/2	299	182	117	310	310	0	strelka-varscan-mutect	MTNR1B,missense_variant,p.Pro278His,ENST00000257068,NM_005959.3;MTNR1B,intron_variant,,ENST00000528076,;MTNR1B,3_prime_UTR_variant,,ENST00000532482,;	A	ENST00000257068	Transcript	missense_variant	839/1565	833/1089	278/362	P/H	cCc/cAc	COSM545530	1		1	MTNR1B	HGNC	HGNC:7464	protein_coding	YES	CCDS8290.1	ENSP00000257068	P49286		UPI0000050408	NM_005959.3	deleterious(0)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF262,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00857,Prints_domain:PR01149											1						MODERATE	1	SNV	1		1	1										PASS		rs1349971000	.												A	3	1	3	92982056	92982056	C	A	1	0	0	0	0	1	0	0	0	9939	623	22	2		2	MTNR1B	11	92982056	Missense_Mutation	SNP	C	11LU022_TP	145458	92982056	42104566	650	1322											
MMP3	0	.	GRCh38	chr11	102842733	102842733	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggttctgaagtgaccaaCatcaggaactccacacctgg	14	7	9	11	0	2	2	1	2	1	0	3	3	3	3	3	3	2	1	3	3	4	1	rs547601378		11LU022_TP	11LU022_NB	C	C																c.289G>T	p.Val97Phe	p.V97F	ENST00000299855	2/10	251	164	87	233	232	1	strelka-mutect	MMP3,missense_variant,p.Val97Phe,ENST00000299855,NM_002422.3;MMP3,upstream_gene_variant,,ENST00000434103,;MMP3,3_prime_UTR_variant,,ENST00000524478,;	A	ENST00000299855	Transcript	missense_variant	546/2016	289/1434	97/477	V/F	Gtt/Ttt	rs547601378	1		-1	MMP3	HGNC	HGNC:7173	protein_coding	YES	CCDS8323.1	ENSP00000299855	P08254		UPI00000422BF	NM_002422.3	deleterious(0.01)		2/10		hmmpanther:PTHR10201:SF164,hmmpanther:PTHR10201,PROSITE_patterns:PS00546,PIRSF_domain:PIRSF001191,Gene3D:3.40.390.10,Superfamily_domains:SSF47090,Prints_domain:PR00138																	MODERATE	1	SNV	1			1										PASS		rs547601378	.												A	3	1	3	102842733	102842733	C	A	1	0	0	0	0	1	0	0	0	9629	478	17	2		2	MMP3	11	102842733	Missense_Mutation	SNP	C	11LU022_TP	9860677	102842733	32243889	651	1323											
GRIA4	0	.	GRCh38	chr11	105972018	105972018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtggacccaaggactCtggaagcaaggtcagtcgct	11	8	13	9	1	2	1	1	1	1	0	3	4	2	4	1	4	1	2	1	4	4	0	novel		11LU022_TP	11LU022_NB	C	C																c.2399C>A	p.Ser800Tyr	p.S800Y	ENST00000282499	15/17	142	92	50	135	134	1	strelka-varscan-mutect	GRIA4,missense_variant,p.Ser800Tyr,ENST00000282499,NM_000829.3;GRIA4,missense_variant,p.Ser800Tyr,ENST00000530497,;GRIA4,intron_variant,,ENST00000393127,NM_001077243.2;GRIA4,intron_variant,,ENST00000525187,;RNU6-277P,downstream_gene_variant,,ENST00000516272,;GRIA4,intron_variant,,ENST00000533094,;GRIA4,3_prime_UTR_variant,,ENST00000525942,;	A	ENST00000282499	Transcript	missense_variant	2845/5508	2399/2709	800/902	S/Y	tCt/tAt		1		1	GRIA4	HGNC	HGNC:4574	protein_coding	YES	CCDS8333.1	ENSP00000282499	P48058		UPI000013DCE6	NM_000829.3	deleterious(0.03)		15/17		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF100,Pfam_domain:PF00060																	MODERATE	1	SNV	5			1										PASS		rs1490238236	.												A	3	1	3	105972018	105972018	C	A	1	0	0	0	0	1	0	0	0	6650	913	32	2		2	GRIA4	11	105972018	Missense_Mutation	SNP	C	11LU022_TP	3129285	105972018	29114604	652	1324											
NPAT	0	.	GRCh38	chr11	108173234	108173234	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacataactggttctaacaCattaatttctattttactct	12	18	3	8	0	3	1	0	1	3	0	3	1	3	1	0	1	3	1	0	1	5	8	novel		11LU022_TP	11LU022_NB	C	C																c.1750G>T	p.Val584Leu	p.V584L	ENST00000278612	13/18	136	90	46	240	240	0	strelka-varscan-mutect	NPAT,missense_variant,p.Val584Leu,ENST00000278612,NM_001321307.1,NM_002519.2;NPAT,non_coding_transcript_exon_variant,,ENST00000610253,;NPAT,upstream_gene_variant,,ENST00000530859,;	A	ENST00000278612	Transcript	missense_variant	1856/6117	1750/4284	584/1427	V/L	Gtg/Ttg		1		-1	NPAT	HGNC	HGNC:7896	protein_coding	YES	CCDS41710.1	ENSP00000278612	Q14207		UPI00001FA306	NM_001321307.1,NM_002519.2	tolerated(0.3)		13/18		hmmpanther:PTHR15087,hmmpanther:PTHR15087:SF16																	MODERATE	1	SNV	1			1										PASS		rs899972140	.												A	3	1	3	108173234	108173234	C	A	1	0	0	0	0	1	0	0	0	10614	478	17	2		2	NPAT	11	108173234	Missense_Mutation	SNP	C	11LU022_TP	2201216	108173234	26913388	653	1325											
C11orf87	0	.	GRCh38	chr11	109424031	109424031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaacccggctggagaGgcagccccgggactctccct	10	4	13	14	2	1	1	0	0	1	1	2	4	1	3	4	5	2	2	4	5	2	0			11LU022_TP	11LU022_NB	G	G																c.398G>T	p.Arg133Met	p.R133M	ENST00000327419	2/2	189	141	48	245	244	1	strelka-varscan-mutect	C11orf87,missense_variant,p.Arg133Met,ENST00000327419,NM_207645.3;RP11-708B6.2,intron_variant,,ENST00000532929,;RP11-708B6.2,intron_variant,,ENST00000532992,;	T	ENST00000327419	Transcript	missense_variant	801/5884	398/594	133/197	R/M	aGg/aTg	COSM1676430	1		1	C11orf87	HGNC	HGNC:33788	protein_coding	YES	CCDS31672.1	ENSP00000331581	Q6NUJ2	A0A158RFU1	UPI000013E5BC	NM_207645.3	deleterious(0)		2/2		hmmpanther:PTHR31870,hmmpanther:PTHR31870:SF2											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	3	109424031	109424031	G	T	1	0	0	0	0	1	0	0	0	1799	1000	35	2		2	C11orf87	11	109424031	Missense_Mutation	SNP	G	11LU022_TP	1250797	109424031	25662591	654	1326											
TTC12	0	.	GRCh38	chr11	113339406	113339406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacctcctggagaccctttCcaagcctgaccagatcccct	9	8	7	17	0	0	3	0	1	0	2	3	5	3	3	8	1	2	0	8	1	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.758C>T	p.Ser253Phe	p.S253F	ENST00000529221	10/22	140	125	15	196	196	0	strelka-varscan-mutect	TTC12,missense_variant,p.Ser253Phe,ENST00000393020,;TTC12,missense_variant,p.Ser253Phe,ENST00000314756,;TTC12,missense_variant,p.Ser253Phe,ENST00000529221,NM_001318533.1,NM_017868.3;TTC12,missense_variant,p.Ser259Phe,ENST00000483239,;TTC12,missense_variant,p.Ser209Phe,ENST00000525965,;TTC12,missense_variant,p.Ser79Phe,ENST00000524580,;TTC12,downstream_gene_variant,,ENST00000442859,;TTC12,downstream_gene_variant,,ENST00000529850,;TTC12,downstream_gene_variant,,ENST00000531164,;TTC12,upstream_gene_variant,,ENST00000478125,;TTC12,missense_variant,p.Ser253Phe,ENST00000494714,;TTC12,3_prime_UTR_variant,,ENST00000464224,;TTC12,non_coding_transcript_exon_variant,,ENST00000534793,;TTC12,intron_variant,,ENST00000527362,;TTC12,downstream_gene_variant,,ENST00000525989,;	T	ENST00000529221	Transcript	missense_variant	863/2315	758/2118	253/705	S/F	tCc/tTc		1		1	TTC12	HGNC	HGNC:23700	protein_coding	YES	CCDS8360.2	ENSP00000433757	Q9H892	A8K8G6	UPI000013F914	NM_001318533.1,NM_017868.3	deleterious(0)		10/22		hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF330																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	113339406	113339406	C	T	1	0	0	0	0	1	0	0	0	17189	855	30	3		3	TTC12	11	113339406	Missense_Mutation	SNP	C	11LU022_TP	3915375	113339406	21747216	655	1327											
CLDN25	0	.	GRCh38	chr11	113780430	113780430	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatcctgtgctccagtggAggagtcagatggctccttcc	6	11	11	13	0	1	1	1	0	0	1	5	3	5	3	5	3	1	2	5	3	1	2	rs761672821		11LU022_TP	11LU022_NB	A	A																c.635A>T	p.Glu212Val	p.E212V	ENST00000453129	1/1	130	92	38	174	174	0	strelka-varscan-mutect	CLDN25,missense_variant,p.Glu212Val,ENST00000453129,NM_001101389.1;	T	ENST00000453129	Transcript	missense_variant	684/754	635/690	212/229	E/V	gAg/gTg	rs761672821	1		1	CLDN25	HGNC	HGNC:37218	protein_coding	YES	CCDS44736.1	ENSP00000396304	C9JDP6		UPI00000495B4	NM_001101389.1	deleterious(0.01)		1/1		hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF87																	MODERATE	1	SNV				1										PASS		rs761672821	.												T	3	4	3	113780430	113780430	A	T	1	0	0	0	0	1	0	0	0	3250	304	11	4		4	CLDN25	11	113780430	Missense_Mutation	SNP	A	11LU022_TP	441024	113780430	21306192	656	1328											
DSCAML1	0	.	GRCh38	chr11	117432433	117432433	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggtgcaaggagacgccagTacagaagctctgtgggttga	10	8	16	7	1	1	3	0	1	1	2	1	4	1	3	1	3	3	4	1	3	3	2	novel		11LU022_TP	11LU022_NB	T	T																c.5278A>G	p.Thr1760Ala	p.T1760A	ENST00000321322	30/33	154	124	30	274	274	0	strelka-varscan-mutect	DSCAML1,missense_variant,p.Thr1760Ala,ENST00000321322,NM_020693.3;DSCAML1,missense_variant,p.Thr1490Ala,ENST00000527706,;	C	ENST00000321322	Transcript	missense_variant	5280/6899	5278/6342	1760/2113	T/A	Act/Gct		1		-1	DSCAML1	HGNC	HGNC:14656	protein_coding	YES	CCDS8384.1	ENSP00000315465	Q8TD84		UPI00000726E2	NM_020693.3	tolerated(0.2)		30/33		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	117432433	117432433	T	C	1	0	0	0	0	1	0	0	0	4590	1638	57	5		5	DSCAML1	11	117432433	Missense_Mutation	SNP	T	11LU022_TP	3652003	117432433	17654189	657	1329											
IL10RA	0	.	GRCh38	chr11	117998929	117998929	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcctccctgaccctcaccCccaggctgacagaacgctgg	7	6	8	20	1	1	3	1	2	0	1	3	3	3	3	6	2	1	2	6	2	1	0	novel		11LU022_TP	11LU022_NB	C	C																c.1025C>A	p.Pro342His	p.P342H	ENST00000227752	7/7	79	52	27	97	97	0	strelka-mutect	IL10RA,missense_variant,p.Pro342His,ENST00000227752,NM_001558.3;TMPRSS4-AS1,downstream_gene_variant,,ENST00000636151,;IL10RA,non_coding_transcript_exon_variant,,ENST00000533700,;IL10RA,3_prime_UTR_variant,,ENST00000534574,;IL10RA,3_prime_UTR_variant,,ENST00000526544,;IL10RA,non_coding_transcript_exon_variant,,ENST00000529924,;IL10RA,non_coding_transcript_exon_variant,,ENST00000530761,;IL10RA,non_coding_transcript_exon_variant,,ENST00000525467,;IL10RA,non_coding_transcript_exon_variant,,ENST00000530178,;IL10RA,downstream_gene_variant,,ENST00000532009,;	A	ENST00000227752	Transcript	missense_variant	1145/3695	1025/1737	342/578	P/H	cCc/cAc		1		1	IL10RA	HGNC	HGNC:5964	protein_coding	YES	CCDS8388.1	ENSP00000227752	Q13651		UPI000013C8BF	NM_001558.3	deleterious(0.01)		7/7		hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF43																	MODERATE	1	SNV	1			1										PASS		rs1185279086	.												A	3	1	3	117998929	117998929	C	A	1	0	0	0	0	1	0	0	0	7528	623	22	2		2	IL10RA	11	117998929	Missense_Mutation	SNP	C	11LU022_TP	566496	117998929	17087693	658	1330											
KMT2A	0	.	GRCh38	chr11	118505254	118505254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccagtgtgatggagacaaAtacttcagtattgggaccca	13	9	10	9	0	1	2	1	1	0	1	1	4	1	3	2	2	1	1	2	2	3	4	novel		11LU022_TP	11LU022_NB	A	A																c.9362A>G	p.Asn3121Ser	p.N3121S	ENST00000534358	27/36	185	131	54	239	239	0	strelka-varscan-mutect	KMT2A,missense_variant,p.Asn3121Ser,ENST00000534358,NM_001197104.1;KMT2A,missense_variant,p.Asn3118Ser,ENST00000389506,NM_005933.3;KMT2A,downstream_gene_variant,,ENST00000528278,;KMT2A,upstream_gene_variant,,ENST00000534678,;KMT2A,upstream_gene_variant,,ENST00000534085,;	G	ENST00000534358	Transcript	missense_variant	9385/16602	9362/11919	3121/3972	N/S	aAt/aGt		1		1	KMT2A	HGNC	HGNC:7132	protein_coding	YES	CCDS55791.1	ENSP00000436786	Q03164		UPI0001E5E732	NM_001197104.1	tolerated_low_confidence(0.57)		27/36		PIRSF_domain:PIRSF010354																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	118505254	118505254	A	G	1	0	0	0	0	1	0	0	0	8295	101	4	5		5	KMT2A	11	118505254	Missense_Mutation	SNP	A	11LU022_TP	506325	118505254	16581368	659	1331											
GRIK4	0	.	GRCh38	chr11	120874216	120874216	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcatgaactacctgcgcAtggtgaggagcggctgaggc	8	7	15	11	2	1	3	1	3	0	0	1	4	1	4	2	4	4	2	2	4	2	1	novel		11LU022_TP	11LU022_NB	A	A																c.1057A>T	p.Met353Leu	p.M353L	ENST00000527524	10/21	109	70	39	111	111	0	strelka-varscan-mutect	GRIK4,missense_variant,p.Met353Leu,ENST00000527524,NM_014619.4;GRIK4,missense_variant,p.Met353Leu,ENST00000438375,NM_001282473.2,NM_001282470.2;RP11-640N11.2,intron_variant,,ENST00000505153,;GRIK4,splice_region_variant,,ENST00000533291,;	T	ENST00000527524	Transcript	missense_variant,splice_region_variant	1344/5802	1057/2871	353/956	M/L	Atg/Ttg		1		1	GRIK4	HGNC	HGNC:4582	protein_coding	YES	CCDS8433.1	ENSP00000435648	Q16099		UPI000013DB8D	NM_014619.4	tolerated(0.42)		10/21		hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822																	MODERATE		SNV	2			1										PASS		rs1487896652	.												T	3	4	3	120874216	120874216	A	T	1	0	0	0	0	1	0	0	0	6658	231	8	4		4	GRIK4	11	120874216	Missense_Mutation	SNP	A	11LU022_TP	2368962	120874216	14212406	660	1332											
TECTA	0	.	GRCh38	chr11	121130086	121130086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcctattaccgcacctGccttttccgcctgtgccaga	6	11	7	17	2	0	1	0	0	0	1	1	1	1	1	7	0	4	1	7	0	2	4	novel		11LU022_TP	11LU022_NB	G	G																c.2816G>A	p.Cys939Tyr	p.C939Y	ENST00000392793	10/24	173	151	22	240	240	0	strelka-varscan-mutect	TECTA,missense_variant,p.Cys939Tyr,ENST00000392793,;TECTA,missense_variant,p.Cys939Tyr,ENST00000264037,NM_005422.2;	A	ENST00000392793	Transcript	missense_variant	3087/7426	2816/6468	939/2155	C/Y	tGc/tAc		1		1	TECTA	HGNC	HGNC:11720	protein_coding	YES	CCDS8434.1	ENSP00000376543	O75443		UPI000045659D		deleterious(0)		10/24		Pfam_domain:PF08742,SMART_domains:SM00832																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	121130086	121130086	G	A	1	0	0	0	0	1	0	0	0	16158	1319	46	3		3	TECTA	11	121130086	Missense_Mutation	SNP	G	11LU022_TP	255870	121130086	13956536	661	1333											
SPATA19	0	.	GRCh38	chr11	133845439	133845439	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatacacaatccatgtcgtaAttatcatctttgaatgtata	14	16	4	7	1	2	1	1	1	1	0	4	1	3	1	1	0	1	2	1	0	8	7	rs756056484		11LU022_TP	11LU022_NB	A	A																c.8T>A	p.Ile3Asn	p.I3N	ENST00000299140	1/7	85	73	12	167	167	0	strelka-varscan-mutect	SPATA19,missense_variant,p.Ile3Asn,ENST00000299140,NM_001291992.1,NM_174927.2;SPATA19,missense_variant,p.Ile3Asn,ENST00000532889,;	T	ENST00000299140	Transcript	missense_variant	63/861	8/504	3/167	I/N	aTt/aAt	rs756056484	1		-1	SPATA19	HGNC	HGNC:30614	protein_coding	YES	CCDS8493.1	ENSP00000299140	Q7Z5L4	A0A140VKB6	UPI000007021D	NM_001291992.1,NM_174927.2	deleterious(0)		1/7		hmmpanther:PTHR36468																	MODERATE	1	SNV	1			1										PASS		rs756056484	.												T	3	4	3	133845439	133845439	A	T	1	0	0	0	0	1	0	0	0	15334	101	4	4		4	SPATA19	11	133845439	Missense_Mutation	SNP	A	11LU022_TP	12715353	133845439	1241183	662	1334											
WNK1	0	.	GRCh38	chr12	868017	868017	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccagcggcgtaagagcacctCcttcctggaagcccaaactc	10	6	9	16	2	0	1	0	0	0	1	3	2	2	2	5	2	4	2	5	2	3	2	novel		11LU022_TP	11LU022_NB	C	C																c.2546C>G	p.Ser849Cys	p.S849C	ENST00000340908	10/28	307	239	68	347	347	0	strelka-varscan-mutect	WNK1,missense_variant,p.Ser764Cys,ENST00000530271,;WNK1,missense_variant,p.Ser764Cys,ENST00000537687,NM_001184985.1;WNK1,missense_variant,p.Ser849Cys,ENST00000340908,NM_213655.4;WNK1,missense_variant,p.Ser63Cys,ENST00000574564,;WNK1,intron_variant,,ENST00000315939,NM_018979.3;WNK1,intron_variant,,ENST00000535572,NM_014823.2;WNK1,intron_variant,,ENST00000535698,;WNK1,intron_variant,,ENST00000544965,;WNK1,intron_variant,,ENST00000545285,;WNK1,upstream_gene_variant,,ENST00000574679,;	G	ENST00000340908	Transcript	missense_variant	3189/11208	2546/7905	849/2634	S/C	tCc/tGc		1		1	WNK1	HGNC	HGNC:14540	protein_coding	YES	CCDS73419.1	ENSP00000341292	Q9H4A3		UPI0001DD21C4	NM_213655.4	deleterious_low_confidence(0)		10/28																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	3	868017	868017	C	G	1	0	0	0	0	1	0	0	0	17933	855	30	4		4	WNK1	12	868017	Missense_Mutation	SNP	C	11LU022_TP		868017	132407292	663	1335											
GALNT8	0	.	GRCh38	chr12	4811308	4811308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtggttacaatgaccacgGtaggttacggggacatgtac	11	9	13	8	2	0	1	0	1	0	0	0	2	0	2	1	5	3	4	1	5	5	4	novel		11LU022_TP	11LU022_NB	G	G																c.1267G>T	p.Val423Leu	p.V423L	ENST00000280684	1/1	159	130	29	209	209	0	strelka-varscan-mutect	GALNT8,missense_variant,p.Val423Leu,ENST00000433855,NM_002235.3;KCNA6,missense_variant,p.Val423Leu,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;	T	ENST00000280684	Transcript	missense_variant	2133/4237	1267/1590	423/529	V/L	Gta/Tta		1		1	KCNA6	HGNC	HGNC:6225	protein_coding	YES	CCDS8534.1	ENSP00000280684	P17658		UPI00001279AD		deleterious(0)		1/1		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF104,Superfamily_domains:SSF81324																	MODERATE		SNV				1										PASS		.	.												T	3	4	3	4811308	4811308	G	T	1	0	0	0	0	1	0	0	0	6090	1261	44	2		2	GALNT8	12	4811308	Missense_Mutation	SNP	G	11LU022_TP	3943291	4811308	128464001	664	1336											
KCNA1	0	.	GRCh38	chr12	4912137	4912137	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggacttcttcaaaaacatCatgaacttcatagacattgt	15	12	5	9	1	4	2	3	1	1	1	4	3	4	3	0	1	2	0	0	1	4	5	novel		11LU022_TP	11LU022_NB	C	C																c.759C>T	p.=	p.I253I	ENST00000382545	2/2	497	408	89	683	683	0	strelka-varscan-mutect	KCNA1,synonymous_variant,p.=,ENST00000382545,NM_000217.2;KCNA1,intron_variant,,ENST00000543874,;KCNA1,intron_variant,,ENST00000541095,;	T	ENST00000382545	Transcript	synonymous_variant	1866/7976	759/1488	253/495	I	atC/atT		1		1	KCNA1	HGNC	HGNC:6218	protein_coding	YES	CCDS8535.1	ENSP00000371985	Q09470		UPI000013C8E0	NM_000217.2			2/2		Gene3D:1.20.120.350,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF24,Superfamily_domains:SSF81324																	LOW	1	SNV	4			1										PASS		.	.												T	2	4	3	4912137	4912137	C	T	1	0	0	0	0	0	0	0	1	7917	816	29	3		3	KCNA1	12	4912137	Silent	SNP	C	11LU022_TP	100829	4912137	128363172	665	1337											
KCNA5	0	.	GRCh38	chr12	5045632	5045632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atcactgttgggggcaagatCgtgggctcgctgtgtgccat	6	11	15	9	2	1	1	1	0	0	1	3	1	1	1	1	3	1	4	1	3	1	1	rs764615241		11LU022_TP	11LU022_NB	C	C																c.1485C>G	p.Ile495Met	p.I495M	ENST00000252321	1/1	187	134	53	284	284	0	strelka-varscan-mutect	KCNA5,missense_variant,p.Ile495Met,ENST00000252321,NM_002234.3;	G	ENST00000252321	Transcript	missense_variant	1644/2800	1485/1842	495/613	I/M	atC/atG	rs764615241,COSM1512302	1		1	KCNA5	HGNC	HGNC:6224	protein_coding	YES	CCDS8536.1	ENSP00000252321	P22460		UPI000013CD56	NM_002234.3	tolerated(0.17)		1/1		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV			0,1	1										PASS		rs764615241	.												G	3	3	3	5045632	5045632	C	G	1	0	0	0	0	1	0	0	0	7922	874	31	4		4	KCNA5	12	5045632	Missense_Mutation	SNP	C	11LU022_TP	133495	5045632	128229677	666	1338											
CD163	0	.	GRCh38	chr12	7496921	7496921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctggcaagaaacgctgtCaagccagatgtgtccaaatc	12	8	9	12	1	1	2	1	0	0	2	4	2	3	2	3	1	2	2	3	1	4	0	novel		11LU022_TP	11LU022_NB	C	C																c.991G>A	p.Asp331Asn	p.D331N	ENST00000359156	5/17	237	210	27	304	304	0	strelka-varscan-mutect	CD163,missense_variant,p.Asp331Asn,ENST00000359156,NM_004244.5;CD163,missense_variant,p.Asp331Asn,ENST00000396620,;CD163,missense_variant,p.Asp331Asn,ENST00000432237,NM_203416.3;CD163,missense_variant,p.Asp319Asn,ENST00000541972,;CD163,non_coding_transcript_exon_variant,,ENST00000537044,;	T	ENST00000359156	Transcript	missense_variant	1194/4268	991/3471	331/1156	D/N	Gac/Aac		1		-1	CD163	HGNC	HGNC:1631	protein_coding	YES	CCDS8578.1	ENSP00000352071	Q86VB7		UPI00004565CC	NM_004244.5	deleterious(0.03)		5/17		Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF324,SMART_domains:SM00202,Superfamily_domains:SSF56487																	MODERATE	1	SNV	1			1										PASS		rs1460117132	.												T	3	4	3	7496921	7496921	C	T	1	0	0	0	0	1	0	0	0	2670	826	29	3		3	CD163	12	7496921	Missense_Mutation	SNP	C	11LU022_TP	2451289	7496921	125778388	667	1339											
NANOGNB	0	.	GRCh38	chr12	7773805	7773805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttttttaaacagatggaGatctctgtgttgccaaggct	9	17	9	6	0	1	2	0	0	1	2	2	3	1	2	1	2	2	2	1	2	3	6	novel		11LU022_TP	11LU022_NB	G	G																c.521G>A	p.Arg174Lys	p.R174K	ENST00000382119	4/4	69	60	9	82	82	0	strelka-varscan-mutect	NANOGNB,missense_variant,p.Arg174Lys,ENST00000382119,NM_001145465.1;	A	ENST00000382119	Transcript	missense_variant	591/907	521/567	174/188	R/K	aGa/aAa		1		1	NANOGNB	HGNC	HGNC:24958	protein_coding	YES	CCDS44826.1	ENSP00000371553	Q7Z5D8		UPI00001B3DAD	NM_001145465.1	tolerated_low_confidence(0.99)		4/4		hmmpanther:PTHR12157																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	7773805	7773805	G	A	1	0	0	0	0	1	0	0	0	10158	956	33	3		3	NANOGNB	12	7773805	Missense_Mutation	SNP	G	11LU022_TP	276884	7773805	125501504	668	1340											
GRIN2B	0	.	GRCh38	chr12	13753422	13753422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcatgtcagaagcagcaGtggtgattatggcaattcca	13	9	11	8	0	1	2	1	1	0	1	2	2	2	2	1	2	3	4	1	2	3	2			11LU022_TP	11LU022_NB	G	G																c.905C>A	p.Thr302Asn	p.T302N	ENST00000609686	3/13	196	161	35	289	289	0	strelka-varscan-mutect	GRIN2B,missense_variant,p.Thr302Asn,ENST00000609686,NM_000834.3;	T	ENST00000609686	Transcript	missense_variant	1359/30355	905/4455	302/1484	T/N	aCt/aAt	COSM1511568,COSM468068	1		-1	GRIN2B	HGNC	HGNC:4586	protein_coding	YES	CCDS8662.1	ENSP00000477455	Q13224		UPI000013026C	NM_000834.3	tolerated(0.14)		3/13		Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF192,Superfamily_domains:SSF53822											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1321033549	.												T	3	4	3	13753422	13753422	G	T	1	0	0	0	0	1	0	0	0	6662	1029	36	2		2	GRIN2B	12	13753422	Missense_Mutation	SNP	G	11LU022_TP	5979617	13753422	119521887	669	1341											
SLC15A5	0	.	GRCh38	chr12	16216895	16216895	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgaacctatttttaccaTctgagatgagatataccaac	14	11	5	11	1	1	2	0	2	1	2	1	5	1	2	4	0	4	0	4	0	6	6	novel		11LU022_TP	11LU022_NB	T	T																c.1481A>T	p.Asp494Val	p.D494V	ENST00000344941	7/9	57	49	8	91	91	0	strelka-varscan-mutect	SLC15A5,missense_variant,p.Asp494Val,ENST00000344941,NM_001170798.1;	A	ENST00000344941	Transcript	missense_variant,splice_region_variant	1481/2923	1481/1740	494/579	D/V	gAt/gTt		1		-1	SLC15A5	HGNC	HGNC:33455	protein_coding	YES		ENSP00000340402	A6NIM6		UPI0000DD8132	NM_001170798.1	deleterious(0.02)		7/9		hmmpanther:PTHR11654,hmmpanther:PTHR11654:SF91,Superfamily_domains:SSF103473																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	16216895	16216895	T	A	1	0	0	0	0	1	0	0	0	14667	1449	50	4		4	SLC15A5	12	16216895	Missense_Mutation	SNP	T	11LU022_TP	2463473	16216895	117058414	670	1342											
SLCO1B7	0	.	GRCh38	chr12	21019324	21019324	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttaattggaattggttgTtttcttatgggaactggaag	11	16	12	2	0	1	0	0	0	1	0	1	3	1	3	0	4	1	3	0	4	6	7	novel		11LU022_TP	11LU022_NB	T	T																c.162T>C	p.=	p.C54C	ENST00000421593	2/13	103	91	12	130	130	0	strelka-varscan-mutect	SLCO1B7,synonymous_variant,p.=,ENST00000421593,NM_001009562.4;RP11-545J16.1,intron_variant,,ENST00000540229,;RP11-545J16.1,intron_variant,,ENST00000381541,;	C	ENST00000421593	Transcript	synonymous_variant	162/1923	162/1923	54/640	C	tgT/tgC		1		1	SLCO1B7	HGNC	HGNC:32934	protein_coding	YES	CCDS44843.1	ENSP00000394168	G3V0H7		UPI0000E5E120	NM_001009562.4			2/13		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11388:SF89,hmmpanther:PTHR11388,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	3	21019324	21019324	T	C	1	0	0	0	0	0	0	0	1	15011	1731	60	5		5	SLCO1B7	12	21019324	Silent	SNP	T	11LU022_TP	4802429	21019324	112255985	671	1343											
SLCO1A2	0	.	GRCh38	chr12	21318793	21318793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcattaccaatctcaaagCttccattaatgaatccaact	15	13	2	11	0	2	1	2	1	1	0	5	1	4	1	3	0	3	1	3	0	6	4	rs747052121		11LU022_TP	11LU022_NB	C	C																c.191G>T	p.Ser64Ile	p.S64I	ENST00000307378	4/16	57	47	10	116	116	0	strelka-varscan-mutect	SLCO1A2,missense_variant,p.Ser64Ile,ENST00000307378,NM_021094.3,NM_134431.3;SLCO1A2,missense_variant,p.Ser64Ile,ENST00000453443,;SLCO1A2,missense_variant,p.Ser64Ile,ENST00000422327,;SLCO1A2,missense_variant,p.Ser64Ile,ENST00000450590,;SLCO1A2,missense_variant,p.Ser64Ile,ENST00000435179,;SLCO1A2,missense_variant,p.Ser62Ile,ENST00000445053,;SLCO1A2,missense_variant,p.Ser64Ile,ENST00000421294,;SLCO1A2,intron_variant,,ENST00000458504,;SLCO1A2,intron_variant,,ENST00000413682,;SLCO1A2,downstream_gene_variant,,ENST00000421287,;SLCO1A2,non_coding_transcript_exon_variant,,ENST00000473830,;SLCO1A2,missense_variant,p.Ser64Ile,ENST00000544290,;SLCO1A2,missense_variant,p.Ser62Ile,ENST00000544020,;SLCO1A2,non_coding_transcript_exon_variant,,ENST00000480394,;SLCO1A2,non_coding_transcript_exon_variant,,ENST00000463718,;	A	ENST00000307378	Transcript	missense_variant	912/7682	191/2013	64/670	S/I	aGc/aTc	rs747052121,COSM1646483,COSM692807	1		-1	SLCO1A2	HGNC	HGNC:10956	protein_coding	YES	CCDS8686.1	ENSP00000305974	P46721	A0A024RAT5	UPI0000037575	NM_021094.3,NM_134431.3	deleterious(0)		4/16		Gene3D:1.20.1250.20,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF16,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805,Transmembrane_helices:TMhelix											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs747052121	.												A	3	1	3	21318793	21318793	C	A	1	0	0	0	0	1	0	0	0	15008	797	28	2		2	SLCO1A2	12	21318793	Missense_Mutation	SNP	C	11LU022_TP	299469	21318793	111956516	672	1344											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		11LU022_TP	11LU022_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	425	228	197	350	349	1	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												A	3	1	3	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	11LU022_TP	3926558	25245351	108029958	673	1345											
LMNTD1	0	.	GRCh38	chr12	25546545	25546545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtttcttcggaactgagaagGggctggcatctttcaagtag	9	12	13	7	1	3	1	1	1	2	1	4	3	3	2	0	4	1	4	0	4	4	4	novel		11LU022_TP	11LU022_NB	G	G																c.320C>A	p.Pro107His	p.P107H	ENST00000458174	4/10	73	67	6	48	48	0	strelka-varscan-mutect	LMNTD1,missense_variant,p.Pro86His,ENST00000282881,NM_152590.3;LMNTD1,missense_variant,p.Pro107His,ENST00000458174,NM_001145728.2;LMNTD1,missense_variant,p.Pro107His,ENST00000413632,NM_001145729.1;LMNTD1,missense_variant,p.Pro23His,ENST00000445693,NM_001145727.2;LMNTD1,missense_variant,p.Pro61His,ENST00000538178,;LMNTD1,missense_variant,p.Pro61His,ENST00000540106,;LMNTD1,missense_variant,p.Pro61His,ENST00000542224,;LMNTD1,5_prime_UTR_variant,,ENST00000539744,NM_001256266.1;LMNTD1,intron_variant,,ENST00000545543,;	T	ENST00000458174	Transcript	missense_variant	565/1677	320/1230	107/409	P/H	cCc/cAc		1		-1	LMNTD1	HGNC	HGNC:26683	protein_coding	YES	CCDS44849.1	ENSP00000407353	Q8N9Z9		UPI0000E004B3	NM_001145728.2	tolerated(0.08)		4/10																			MODERATE	1	SNV	2			1										PASS		rs1394341088	.												T	3	4	3	25546545	25546545	G	T	1	0	0	0	0	1	0	0	0	8775	1232	43	2		2	LMNTD1	12	25546545	Missense_Mutation	SNP	G	11LU022_TP	301194	25546545	107728764	674	1346											
DENND5B	0	.	GRCh38	chr12	31447711	31447711	+	Missense_Mutation	SNP	T	T	A																															aggtggcaaacatctgtgttTcaatgaagcgtgaaagaaat																								novel		11LU022_TP	11LU022_NB	T	T																c.1793A>T	p.Glu598Val	p.E598V	ENST00000536562	8/23	279	156	123	178	178	0	strelka-varscan-mutect	DENND5B,missense_variant,p.Glu563Val,ENST00000389082,NM_144973.3;DENND5B,missense_variant,p.Glu598Val,ENST00000536562,NM_001308339.1;DENND5B,missense_variant,p.Glu585Val,ENST00000354285,;DENND5B,downstream_gene_variant,,ENST00000546299,;RP11-771K4.3,upstream_gene_variant,,ENST00000621354,;	A	ENST00000536562	Transcript	missense_variant	1944/4291	1793/3930	598/1309	E/V	gAa/gTa		1		-1	DENND5B	HGNC	HGNC:28338	protein_coding	YES	CCDS76542.1	ENSP00000444889		G3V1S3	UPI0000D621CB	NM_001308339.1	deleterious(0)		8/23		PROSITE_profiles:PS50947,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF45,Pfam_domain:PF03455,SMART_domains:SM00801																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	3	31447711	31447711	T	A	1	0	0	0	0	1	0	0	0	4241	1783	62	4		4	DENND5B	12	31447711	Missense_Mutation	SNP	T	11LU022_TP	5901166	31447711	101827598	675	1347	33	2									
DENND5B	0	.	GRCh38	chr12	31447712	31447712	+	Nonsense_Mutation	SNP	C	C	A																															ggtggcaaacatctgtgtttCaatgaagcgtgaaagaaatg																								novel		11LU022_TP	11LU022_NB	C	C																c.1792G>T	p.Glu598Ter	p.E598*	ENST00000536562	8/23	280	155	125	180	180	0	strelka-varscan-mutect	DENND5B,stop_gained,p.Glu563Ter,ENST00000389082,NM_144973.3;DENND5B,stop_gained,p.Glu598Ter,ENST00000536562,NM_001308339.1;DENND5B,stop_gained,p.Glu585Ter,ENST00000354285,;DENND5B,downstream_gene_variant,,ENST00000546299,;RP11-771K4.3,upstream_gene_variant,,ENST00000621354,;	A	ENST00000536562	Transcript	stop_gained	1943/4291	1792/3930	598/1309	E/*	Gaa/Taa		1		-1	DENND5B	HGNC	HGNC:28338	protein_coding	YES	CCDS76542.1	ENSP00000444889		G3V1S3	UPI0000D621CB	NM_001308339.1			8/23		PROSITE_profiles:PS50947,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF45,Pfam_domain:PF03455,SMART_domains:SM00801																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	3	31447712	31447712	C	A	1	0	0	0	0	0	1	0	0	4241	835	29	2		2	DENND5B	12	31447712	Nonsense_Mutation	SNP	C	11LU022_TP	1	31447712	101827597	676	1348	33	2									
KIF21A	0	.	GRCh38	chr12	39331689	39331689	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacagtgtggttgtatcttaCcttattgatgcccattgaca	10	15	8	8	0	1	2	0	2	1	0	1	2	1	2	2	1	3	2	2	1	4	6	novel		11LU022_TP	11LU022_NB	C	C																c.3153+1G>T		p.X1051_splice	ENST00000361418		233	211	22	306	305	1	strelka-varscan-mutect	KIF21A,splice_donor_variant,,ENST00000361961,NM_017641.3;KIF21A,splice_donor_variant,,ENST00000636569,;KIF21A,splice_donor_variant,,ENST00000361418,NM_001173464.1;KIF21A,splice_donor_variant,,ENST00000544797,NM_001173463.1;KIF21A,splice_donor_variant,,ENST00000541463,NM_001173465.1;KIF21A,splice_donor_variant,,ENST00000552961,;KIF21A,splice_donor_variant,,ENST00000551264,;KIF21A,splice_donor_variant,,ENST00000551066,;KIF21A,splice_donor_variant,,ENST00000552475,;KIF21A,splice_donor_variant,,ENST00000547108,;KIF21A,downstream_gene_variant,,ENST00000546817,;	A	ENST00000361418	Transcript	splice_donor_variant	-/5044	3153/5025	1051/1674				1		-1	KIF21A	HGNC	HGNC:19349	protein_coding	YES	CCDS53776.1	ENSP00000354878	Q7Z4S6		UPI0000212ED9	NM_001173464.1				22/37																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	3	39331689	39331689	C	A	1	0	0	0	0	0	0	1	0	8153	521	18	2		2	KIF21A	12	39331689	Splice_Site	SNP	C	11LU022_TP	7883977	39331689	93943620	677	1349											
PDZRN4	0	.	GRCh38	chr12	41573316	41573316	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgcaaacatcccagcacAcgcccggcattatcaaagct	14	7	6	14	2	1	0	1	0	0	0	2	0	2	0	2	1	4	4	2	1	4	2	novel		11LU022_TP	11LU022_NB	A	A																c.2537A>T	p.His846Leu	p.H846L	ENST00000402685	10/10	208	175	33	247	247	0	strelka-varscan-mutect	PDZRN4,missense_variant,p.His586Leu,ENST00000298919,;PDZRN4,missense_variant,p.His846Leu,ENST00000402685,NM_001164595.1;PDZRN4,missense_variant,p.His588Leu,ENST00000539469,NM_013377.3;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;	T	ENST00000402685	Transcript	missense_variant	2545/3347	2537/3111	846/1036	H/L	cAc/cTc		1		1	PDZRN4	HGNC	HGNC:30552	protein_coding	YES	CCDS53777.1	ENSP00000384197	Q6ZMN7		UPI0000D621D0	NM_001164595.1	deleterious(0.02)		10/10		hmmpanther:PTHR15545,hmmpanther:PTHR15545:SF6																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	41573316	41573316	A	T	1	0	0	0	0	1	0	0	0	11798	159	6	4		4	PDZRN4	12	41573316	Missense_Mutation	SNP	A	11LU022_TP	2241627	41573316	91701993	678	1350											
DBX2	0	.	GRCh38	chr12	45016391	45016391	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtggtgcccctgaactCtcctggattagtctttctga	5	13	13	10	0	3	2	0	2	3	0	4	3	3	3	3	4	2	0	3	4	2	2	novel		11LU022_TP	11LU022_NB	C	C																c.915G>T	p.Glu305Asp	p.E305D	ENST00000332700	4/4	119	104	15	115	115	0	strelka-varscan-mutect	DBX2,missense_variant,p.Glu305Asp,ENST00000332700,NM_001004329.2;	A	ENST00000332700	Transcript	missense_variant	1087/2806	915/1020	305/339	E/D	gaG/gaT		1		-1	DBX2	HGNC	HGNC:33186	protein_coding	YES	CCDS31781.1	ENSP00000331470	Q6ZNG2		UPI000041A784	NM_001004329.2	deleterious_low_confidence(0.03)		4/4		hmmpanther:PTHR24331,hmmpanther:PTHR24331:SF4																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	3	45016391	45016391	C	A	1	0	0	0	0	1	0	0	0	4060	912	32	2		2	DBX2	12	45016391	Missense_Mutation	SNP	C	11LU022_TP	3443075	45016391	88258918	679	1351											
KMT2D	0	.	GRCh38	chr12	49042178	49042178	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaactcctcatccttcTcccagcgctgaagactccgc	7	8	7	19	2	2	2	1	1	1	1	6	2	5	2	5	1	2	1	5	1	2	1	rs587783722		11LU022_TP	11LU022_NB	T	T																c.6020A>T	p.Glu2007Val	p.E2007V	ENST00000301067	28/54	243	200	43	289	289	0	strelka-varscan-mutect	KMT2D,missense_variant,p.Glu2007Val,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,;	A	ENST00000301067	Transcript	missense_variant	6020/19419	6020/16614	2007/5537	E/V	gAg/gTg	rs587783722	1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3	deleterious(0)		28/54		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF380										likely_benign							MODERATE	1	SNV	5		1	1										PASS		rs587783722	.												A	3	1	3	49042178	49042178	T	A	1	0	0	0	0	1	0	0	0	8298	1551	54	4		4	KMT2D	12	49042178	Missense_Mutation	SNP	T	11LU022_TP	4025787	49042178	84233131	680	1352											
AQP6	0	.	GRCh38	chr12	49973421	49973421	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcggggcccacgccaaccCcgccgtgacgctggccttcc	5	4	12	20	5	0	1	0	1	0	0	1	1	1	1	7	3	2	1	7	3	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.248C>A	p.Pro83His	p.P83H	ENST00000615425	1/5	206	160	46	244	243	1	strelka-varscan-mutect	AQP6,missense_variant,p.Pro83His,ENST00000615425,NM_001652.3;AQP6,missense_variant,p.Pro83His,ENST00000315520,;AQP6,missense_variant,p.Pro83His,ENST00000618286,;AQP6,intron_variant,,ENST00000551733,;RACGAP1,downstream_gene_variant,,ENST00000548961,;AQP6,non_coding_transcript_exon_variant,,ENST00000489786,;	A	ENST00000615425	Transcript	missense_variant	248/2245	248/849	83/282	P/H	cCc/cAc		1		1	AQP6	HGNC	HGNC:639	protein_coding	YES	CCDS31798.1	ENSP00000477688	Q13520		UPI000013EBD8	NM_001652.3	deleterious(0)		1/5		Gene3D:1.20.1080.10,Pfam_domain:PF00230,Prints_domain:PR00783,PROSITE_patterns:PS00221,hmmpanther:PTHR19139,hmmpanther:PTHR19139:SF113,Superfamily_domains:SSF81338,TIGRFAM_domain:TIGR00861																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	49973421	49973421	C	A	1	0	0	0	0	1	0	0	0	953	623	22	2		2	AQP6	12	49973421	Missense_Mutation	SNP	C	11LU022_TP	931243	49973421	83301888	681	1353											
ANKRD33	0	.	GRCh38	chr12	51891115	51891115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagtggctacaacccaGggatagcaccagccccaggc	10	5	10	16	0	1	0	1	0	0	0	1	1	1	1	5	3	4	2	5	3	3	3	novel		11LU022_TP	11LU022_NB	G	G																c.1169G>T	p.Arg390Met	p.R390M	ENST00000301190	5/5	234	209	25	350	350	0	strelka-varscan-mutect	ANKRD33,missense_variant,p.Arg390Met,ENST00000301190,NM_182608.3;ANKRD33,intron_variant,,ENST00000340970,NM_001130015.1;ANKRD33,non_coding_transcript_exon_variant,,ENST00000547119,;ANKRD33,downstream_gene_variant,,ENST00000549316,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548526,;ANKRD33,intron_variant,,ENST00000548383,;ANKRD33,intron_variant,,ENST00000549751,;ANKRD33,intron_variant,,ENST00000550652,;	T	ENST00000301190	Transcript	missense_variant	1396/1935	1169/1359	390/452	R/M	aGg/aTg		1		1	ANKRD33	HGNC	HGNC:13788	protein_coding	YES	CCDS8815.1	ENSP00000301190	Q7Z3H0		UPI00003668C0	NM_182608.3	deleterious(0)		5/5		hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF29																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	51891115	51891115	G	T	1	0	0	0	0	1	0	0	0	765	1000	35	2		2	ANKRD33	12	51891115	Missense_Mutation	SNP	G	11LU022_TP	1917694	51891115	81384194	682	1354											
NR4A1	0	.	GRCh38	chr12	52054918	52054918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccttcagtcctcccaccgGccccagccccagcctggccc	4	7	7	23	1	1	0	1	0	0	0	4	0	4	0	10	2	2	0	10	2	0	2	novel		11LU022_TP	11LU022_NB	G	G																c.752G>T	p.Gly251Val	p.G251V	ENST00000545748	3/8	183	164	19	242	242	0	strelka-varscan-mutect	NR4A1,missense_variant,p.Gly251Val,ENST00000545748,NM_001202234.1;NR4A1,missense_variant,p.Gly197Val,ENST00000243050,NM_002135.4;NR4A1,missense_variant,p.Gly197Val,ENST00000394824,;NR4A1,missense_variant,p.Gly210Val,ENST00000360284,NM_001202233.1;NR4A1,missense_variant,p.Gly197Val,ENST00000394825,NM_173157.2;NR4A1,missense_variant,p.Gly210Val,ENST00000550082,;NR4A1,missense_variant,p.Gly210Val,ENST00000546842,;NR4A1,missense_variant,p.Gly197Val,ENST00000548232,;NR4A1,intron_variant,,ENST00000550763,;NR4A1,downstream_gene_variant,,ENST00000562373,;NR4A1,upstream_gene_variant,,ENST00000550582,;NR4A1,downstream_gene_variant,,ENST00000548977,;RP11-1100L3.8,downstream_gene_variant,,ENST00000564363,;RP11-1100L3.8,downstream_gene_variant,,ENST00000564531,;NR4A1,intron_variant,,ENST00000548733,;NR4A1,downstream_gene_variant,,ENST00000547206,;NR4A1,non_coding_transcript_exon_variant,,ENST00000550557,;NR4A1,non_coding_transcript_exon_variant,,ENST00000478250,;NR4A1,upstream_gene_variant,,ENST00000564201,;NR4A1,upstream_gene_variant,,ENST00000565848,;NR4A1,upstream_gene_variant,,ENST00000567890,;NR4A1,downstream_gene_variant,,ENST00000549102,;NR4A1,upstream_gene_variant,,ENST00000550339,;	T	ENST00000545748	Transcript	missense_variant	1747/3511	752/1959	251/652	G/V	gGc/gTc		1		1	NR4A1	HGNC	HGNC:7980	protein_coding	YES	CCDS73471.1	ENSP00000440864		F5GXF0	UPI0000D621F3	NM_001202234.1	tolerated(0.14)		3/8		Low_complexity_(Seg):seg,hmmpanther:PTHR24085:SF1,hmmpanther:PTHR24085,Prints_domain:PR01285																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	52054918	52054918	G	T	1	0	0	0	0	1	0	0	0	10688	1203	42	2		2	NR4A1	12	52054918	Missense_Mutation	SNP	G	11LU022_TP	163803	52054918	81220391	683	1355											
KRT5	0	.	GRCh38	chr12	52515166	52515166	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccaccgaggccgccgcCaagacctccaccgaggccac	9	2	9	21	4	0	1	0	0	0	1	2	3	2	1	10	2	0	0	10	2	1	0	novel		11LU022_TP	11LU022_NB	C	C																c.1549G>T	p.Gly517Cys	p.G517C	ENST00000252242	9/9	379	312	67	434	434	0	strelka-varscan-mutect	KRT5,missense_variant,p.Gly517Cys,ENST00000252242,NM_000424.3;KRT5,downstream_gene_variant,,ENST00000548409,;KRT5,downstream_gene_variant,,ENST00000549420,;KRT5,downstream_gene_variant,,ENST00000551188,;KRT5,downstream_gene_variant,,ENST00000546577,;KRT5,downstream_gene_variant,,ENST00000551275,;KRT5,non_coding_transcript_exon_variant,,ENST00000549511,;KRT5,non_coding_transcript_exon_variant,,ENST00000552952,;KRT5,downstream_gene_variant,,ENST00000552629,;KRT5,downstream_gene_variant,,ENST00000551013,;KRT5,downstream_gene_variant,,ENST00000547890,;	A	ENST00000252242	Transcript	missense_variant	1940/2531	1549/1773	517/590	G/C	Ggc/Tgc		1		-1	KRT5	HGNC	HGNC:6442	protein_coding	YES	CCDS8830.1	ENSP00000252242	P13647		UPI000013CD4B	NM_000424.3	deleterious(0.05)		9/9		Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF205,hmmpanther:PTHR23239																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	52515166	52515166	C	A	1	0	0	0	0	1	0	0	0	8361	594	21	2		2	KRT5	12	52515166	Missense_Mutation	SNP	C	11LU022_TP	460248	52515166	80760143	684	1356											
KRT73	0	.	GRCh38	chr12	52613726	52613726	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcctcggccttgctctTccgggcgatctcctcatact	3	12	9	17	4	3	0	1	0	2	0	7	1	4	0	4	3	2	1	4	3	1	3	rs559245335		11LU022_TP	11LU022_NB	T	T																c.946A>G	p.Lys316Glu	p.K316E	ENST00000305748	5/9	154	112	42	180	180	0	strelka-varscan-mutect	KRT73,missense_variant,p.Lys316Glu,ENST00000305748,NM_175068.2;KRT73,missense_variant,p.Lys61Glu,ENST00000552855,;KRT73-AS1,non_coding_transcript_exon_variant,,ENST00000552364,;KRT73-AS1,non_coding_transcript_exon_variant,,ENST00000549180,;KRT73-AS1,downstream_gene_variant,,ENST00000551089,;KRT73,non_coding_transcript_exon_variant,,ENST00000546934,;	C	ENST00000305748	Transcript	missense_variant	981/2284	946/1623	316/540	K/E	Aag/Gag	rs559245335	1		-1	KRT73	HGNC	HGNC:28928	protein_coding	YES	CCDS8834.1	ENSP00000307014	Q86Y46		UPI000000DCB8	NM_175068.2	deleterious(0)		5/9		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF85,Pfam_domain:PF00038,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		rs559245335	.												C	3	2	3	52613726	52613726	T	C	1	0	0	0	0	1	0	0	0	8368	1792	62	5		5	KRT73	12	52613726	Missense_Mutation	SNP	T	11LU022_TP	98560	52613726	80661583	685	1357											
KRT73	0	.	GRCh38	chr12	52616198	52616198	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctccaccacttcgcgcacGctcctcagctccgagtccag	6	8	7	20	4	1	0	1	0	0	0	7	1	6	0	6	0	1	3	6	0	0	1	rs116369374		11LU022_TP	11LU022_NB	G	G																c.630C>G	p.Ser210Arg	p.S210R	ENST00000305748	2/9	247	192	55	285	285	0	strelka-varscan-mutect	KRT73,missense_variant,p.Ser210Arg,ENST00000305748,NM_175068.2;KRT73,upstream_gene_variant,,ENST00000552855,;KRT73-AS1,downstream_gene_variant,,ENST00000552364,;KRT73-AS1,downstream_gene_variant,,ENST00000549180,;KRT73-AS1,downstream_gene_variant,,ENST00000551089,;KRT73,non_coding_transcript_exon_variant,,ENST00000546934,;	C	ENST00000305748	Transcript	missense_variant	665/2284	630/1623	210/540	S/R	agC/agG	rs116369374,COSM4042893,COSM694176	1		-1	KRT73	HGNC	HGNC:28928	protein_coding	YES	CCDS8834.1	ENSP00000307014	Q86Y46		UPI000000DCB8	NM_175068.2	deleterious(0.04)		2/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF85,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF64593,Prints_domain:PR01276											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs116369374	.												C	3	2	3	52616198	52616198	G	C	1	0	0	0	0	1	0	0	0	8368	1078	38	4		4	KRT73	12	52616198	Missense_Mutation	SNP	G	11LU022_TP	2472	52616198	80659111	686	1358											
KRT1	0	.	GRCh38	chr12	52680004	52680004	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaccaccaaagccaccaccCccaatgccacctccaccaaa	16	2	2	21	0	0	0	0	0	0	0	1	0	1	0	10	0	3	0	10	0	4	0	novel		11LU022_TP	11LU022_NB	C	C																c.345G>T	p.=	p.G115G	ENST00000252244	1/9	236	181	55	329	327	2	strelka-varscan-mutect	KRT1,synonymous_variant,p.=,ENST00000252244,NM_006121.3;KRT1,upstream_gene_variant,,ENST00000548765,;	A	ENST00000252244	Transcript	synonymous_variant	404/2451	345/1935	115/644	G	ggG/ggT		1		-1	KRT1	HGNC	HGNC:6412	protein_coding	YES	CCDS8836.1	ENSP00000252244	P04264		UPI000013CD4D	NM_006121.3			1/9		Low_complexity_(Seg):seg,Pfam_domain:PF16208																	LOW	1	SNV	1			1										PASS		rs1184390394	.												A	2	1	3	52680004	52680004	C	A	1	0	0	0	0	0	0	0	1	8329	610	22	2		2	KRT1	12	52680004	Silent	SNP	C	11LU022_TP	63806	52680004	80595305	687	1359											
HOXC10	0	.	GRCh38	chr12	53985861	53985861	+	Frame_Shift_Del	DEL	C	C	-																															caaagtgagtttccctgagaCccccaagtccgacagccaga																								rs778861177		11LU022_TP	11LU022_NB	C	C																c.606delC	p.Lys203SerfsTer51	p.K203Sfs*51	ENST00000303460	1/2	124	83	41	150	150	0	sindel-varindel-pindel	HOXC10,frameshift_variant,p.Lys203SerfsTer51,ENST00000303460,NM_017409.3;RP11-834C11.12,frameshift_variant,p.Lys8SerfsTer83,ENST00000513209,;HOXC10,frameshift_variant,p.Lys91SerfsTer?,ENST00000515593,;HOXC6,upstream_gene_variant,,ENST00000504315,;HOXC-AS3,upstream_gene_variant,,ENST00000509870,;HOXC-AS3,upstream_gene_variant,,ENST00000513165,;HOXC-AS3,upstream_gene_variant,,ENST00000514702,;HOXC10,upstream_gene_variant,,ENST00000511575,;HOXC10,upstream_gene_variant,,ENST00000513413,;HOXC10,upstream_gene_variant,,ENST00000514415,;HOXC-AS3,upstream_gene_variant,,ENST00000567780,;	-	ENST00000303460	Transcript	frameshift_variant	676/1936	602/1029	201/342	T/X	aCc/ac	rs778861177	1		1	HOXC10	HGNC	HGNC:5122	protein_coding	YES	CCDS8868.1	ENSP00000307321	Q9NYD6	Q53XI4	UPI000012CF7C	NM_017409.3			1/2		hmmpanther:PTHR24326:SF135,hmmpanther:PTHR24326																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	3	53985861	53985861	C	-	1	0	1	0	1	0	0	0	0	7203	507	18	0		0	HOXC10	12	53985861	Frame_Shift_Del	DEL	C	11LU022_TP	1305857	53985861	79289448	688	1360											
OR10P1	0	.	GRCh38	chr12	55636911	55636911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggctggggaaaaccataCtacactgcctgaattcctcc	11	9	9	12	0	0	1	0	1	0	0	2	3	2	2	4	3	4	1	4	3	5	3	novel		11LU022_TP	11LU022_NB	C	C																c.20C>A	p.Thr7Asn	p.T7N	ENST00000309675	1/1	77	70	7	101	101	0	strelka-varscan-mutect	OR10P1,missense_variant,p.Thr7Asn,ENST00000309675,NM_206899.1;RP11-644F5.16,downstream_gene_variant,,ENST00000556606,;	A	ENST00000309675	Transcript	missense_variant	52/995	20/942	7/313	T/N	aCt/aAt		1		1	OR10P1	HGNC	HGNC:15378	protein_coding	YES	CCDS31828.1	ENSP00000308082	Q8NGE3		UPI0000061E9C	NM_206899.1	deleterious(0)		1/1		hmmpanther:PTHR26453:SF194,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												A	3	1	3	55636911	55636911	C	A	1	0	0	0	0	1	0	0	0	10992	565	20	2		2	OR10P1	12	55636911	Missense_Mutation	SNP	C	11LU022_TP	1651050	55636911	77638398	689	1361											
TIMELESS	0	.	GRCh38	chr12	56421015	56421015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaaggactaagctaccCtggacttgttctgcttctga	9	14	9	9	0	2	2	0	2	2	0	2	4	2	4	1	2	3	3	1	2	3	6			11LU022_TP	11LU022_NB	C	C																c.2988G>T	p.Gln996His	p.Q996H	ENST00000553532	24/29	250	211	39	297	297	0	strelka-varscan-mutect	TIMELESS,missense_variant,p.Gln996His,ENST00000553532,NM_003920.3;TIMELESS,missense_variant,p.Gln995His,ENST00000229201,;TIMELESS,non_coding_transcript_exon_variant,,ENST00000557589,;TIMELESS,non_coding_transcript_exon_variant,,ENST00000553314,;TIMELESS,downstream_gene_variant,,ENST00000555808,;	A	ENST00000553532	Transcript	missense_variant	3139/5121	2988/3627	996/1208	Q/H	caG/caT	COSM4043615	1		-1	TIMELESS	HGNC	HGNC:11813	protein_coding	YES	CCDS8918.1	ENSP00000450607	Q9UNS1		UPI000013C8EA	NM_003920.3	tolerated(0.26)		24/29		hmmpanther:PTHR22940,hmmpanther:PTHR22940:SF4,Pfam_domain:PF05029											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	3	56421015	56421015	C	A	1	0	0	0	0	1	0	0	0	16342	680	24	2		2	TIMELESS	12	56421015	Missense_Mutation	SNP	C	11LU022_TP	784104	56421015	76854294	690	1362											
GLI1	0	.	GRCh38	chr12	57470567	57470567	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccactgcagcatccagcctGgatcggataggtggtcttcc	7	9	11	14	1	1	0	0	0	1	0	4	2	3	2	4	4	3	2	4	4	1	2	novel		11LU022_TP	11LU022_NB	G	G																c.1827G>T	p.=	p.L609L	ENST00000228682	12/12	167	138	29	222	222	0	strelka-varscan-mutect	GLI1,synonymous_variant,p.=,ENST00000228682,NM_005269.2;GLI1,synonymous_variant,p.=,ENST00000546141,NM_001167609.1;GLI1,synonymous_variant,p.=,ENST00000543426,NM_001160045.1;GLI1,synonymous_variant,p.=,ENST00000528467,;ARHGAP9,downstream_gene_variant,,ENST00000393797,NM_001319850.1;ARHGAP9,downstream_gene_variant,,ENST00000550288,;ARHGAP9,downstream_gene_variant,,ENST00000393791,NM_032496.2;ARHGAP9,downstream_gene_variant,,ENST00000424809,NM_001080157.1;ARHGAP9,downstream_gene_variant,,ENST00000430041,NM_001080156.1;ARHGAP9,downstream_gene_variant,,ENST00000548139,;GLI1,downstream_gene_variant,,ENST00000532291,;ARHGAP9,downstream_gene_variant,,ENST00000550399,;ARHGAP9,downstream_gene_variant,,ENST00000550130,;MARS,upstream_gene_variant,,ENST00000549133,;ARHGAP9,downstream_gene_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000552953,;ARHGAP9,downstream_gene_variant,,ENST00000550440,;GLI1,downstream_gene_variant,,ENST00000527742,;ARHGAP9,downstream_gene_variant,,ENST00000546704,;	T	ENST00000228682	Transcript	synonymous_variant	1918/3613	1827/3321	609/1106	L	ctG/ctT		1		1	GLI1	HGNC	HGNC:4317	protein_coding	YES	CCDS8940.1	ENSP00000228682	P08151		UPI000012B607	NM_005269.2			12/12		hmmpanther:PTHR19818:SF2,hmmpanther:PTHR19818																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	57470567	57470567	G	T	1	0	0	0	0	0	0	0	1	6315	1335	47	2		2	GLI1	12	57470567	Silent	SNP	G	11LU022_TP	1049552	57470567	75804742	691	1363											
KIF5A	0	.	GRCh38	chr12	57569334	57569334	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggaaactgccggacgactAtgttcatctgttgctcacca	9	10	11	11	2	3	0	2	0	1	0	3	3	3	2	2	3	3	3	2	3	2	3	novel		11LU022_TP	11LU022_NB	A	A																c.898A>T	p.Met300Leu	p.M300L	ENST00000455537	10/29	524	462	62	606	605	1	strelka-varscan-mutect	KIF5A,missense_variant,p.Met300Leu,ENST00000455537,NM_004984.2;KIF5A,missense_variant,p.Met211Leu,ENST00000286452,;	T	ENST00000455537	Transcript	missense_variant	1172/5824	898/3099	300/1032	M/L	Atg/Ttg		1		1	KIF5A	HGNC	HGNC:6323	protein_coding	YES	CCDS8945.1	ENSP00000408979	Q12840		UPI000013DE4C	NM_004984.2	tolerated(0.37)		10/29		PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF317,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	57569334	57569334	A	T	1	0	0	0	0	1	0	0	0	8170	449	16	4		4	KIF5A	12	57569334	Missense_Mutation	SNP	A	11LU022_TP	98767	57569334	75705975	692	1364											
METTL21B	0	.	GRCh38	chr12	57773129	57773129	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatcttggcagcgctgcaggGtgcgtgagctggctttttac	5	12	15	9	2	1	1	0	1	1	0	1	2	1	1	0	3	5	5	0	3	1	4	rs766086319		11LU022_TP	11LU022_NB	G	G																c.289+1G>C		p.X97_splice	ENST00000300209		115	90	25	154	154	0	strelka-varscan-mutect	METTL21B,splice_donor_variant,,ENST00000333012,NM_206914.1;METTL21B,splice_donor_variant,,ENST00000300209,NM_015433.2;METTL21B,splice_donor_variant,,ENST00000551420,;METTL21B,splice_donor_variant,,ENST00000548256,;RP11-571M6.15,splice_donor_variant,,ENST00000546504,;METTL1,upstream_gene_variant,,ENST00000324871,NM_005371.5;METTL1,upstream_gene_variant,,ENST00000257848,NM_023033.3;METTL1,upstream_gene_variant,,ENST00000547653,;CYP27B1,upstream_gene_variant,,ENST00000546609,;METTL1,upstream_gene_variant,,ENST00000548504,;RP11-571M6.15,splice_donor_variant,,ENST00000553083,;METTL21B,intron_variant,,ENST00000552307,;METTL1,upstream_gene_variant,,ENST00000548681,;RP11-571M6.15,splice_donor_variant,,ENST00000471530,;METTL1,upstream_gene_variant,,ENST00000553125,;METTL1,upstream_gene_variant,,ENST00000549773,;METTL1,upstream_gene_variant,,ENST00000551117,;	C	ENST00000300209	Transcript	splice_donor_variant	-/2563	289/681	97/226			rs766086319	1		1	METTL21B	HGNC	HGNC:24936	protein_coding	YES	CCDS8957.1	ENSP00000300209	Q96AZ1		UPI000006CEB5	NM_015433.2				2/2																		HIGH	1	SNV	1			1										PASS		rs766086319	.												C	5	2	3	57773129	57773129	G	C	1	0	0	0	0	0	0	1	0	9446	1275	44	4		4	METTL21B	12	57773129	Splice_Site	SNP	G	11LU022_TP	203795	57773129	75502180	693	1365											
C12orf66	0	.	GRCh38	chr12	64194179	64194179	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggcctctctgtaggaaTgggggtggtgataaccatga	8	10	17	6	0	1	2	0	2	1	0	2	3	1	3	2	6	1	1	2	6	3	2	novel		11LU022_TP	11LU022_NB	T	T																c.1001A>T	p.His334Leu	p.H334L	ENST00000311915	3/4	177	153	24	205	205	0	strelka-varscan-mutect	C12orf66,missense_variant,p.His334Leu,ENST00000398055,NM_152440.4;C12orf66,missense_variant,p.His334Leu,ENST00000311915,NM_001300940.1;C12orf66,missense_variant,p.His281Leu,ENST00000544871,NM_001300941.1;	A	ENST00000311915	Transcript	missense_variant	1029/2698	1001/1407	334/468	H/L	cAt/cTt		1		-1	C12orf66	HGNC	HGNC:26517	protein_coding	YES	CCDS73490.1	ENSP00000311486		J3KNH0	UPI0003EAEA9B	NM_001300940.1	tolerated(0.19)		3/4		Superfamily_domains:0053960,Pfam_domain:PF09404,hmmpanther:PTHR31581,hmmpanther:PTHR31581:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	64194179	64194179	T	A	1	0	0	0	0	1	0	0	0	1820	1464	51	4		4	C12orf66	12	64194179	Missense_Mutation	SNP	T	11LU022_TP	6421050	64194179	69081130	694	1366											
GNS	0	.	GRCh38	chr12	64744864	64744864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccatgcttccgtgccttcCcattgatagacagggtgtaa	9	11	9	12	1	0	2	0	1	0	1	2	2	2	2	4	1	2	2	4	1	2	5	novel		11LU022_TP	11LU022_NB	C	C																c.569G>T	p.Gly190Val	p.G190V	ENST00000258145	5/14	301	266	35	331	330	1	strelka-varscan-mutect	GNS,missense_variant,p.Gly190Val,ENST00000258145,NM_002076.3;GNS,missense_variant,p.Gly134Val,ENST00000418919,;GNS,missense_variant,p.Gly222Val,ENST00000543646,;GNS,missense_variant,p.Gly170Val,ENST00000542058,;GNS,missense_variant,p.Gly10Val,ENST00000540196,;GNS,missense_variant,p.Gly114Val,ENST00000545273,;GNS,non_coding_transcript_exon_variant,,ENST00000541781,;	A	ENST00000258145	Transcript	missense_variant	740/5122	569/1659	190/552	G/V	gGg/gTg		1		-1	GNS	HGNC	HGNC:4422	protein_coding	YES	CCDS8970.1	ENSP00000258145	P15586	A0A024RBC5	UPI0000000CC8	NM_002076.3	deleterious(0)		5/14		Gene3D:3.40.720.10,Pfam_domain:PF00884,PIRSF_domain:PIRSF036666,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF212,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	64744864	64744864	C	A	1	0	0	0	0	1	0	0	0	6429	623	22	2		2	GNS	12	64744864	Missense_Mutation	SNP	C	11LU022_TP	550685	64744864	68530445	695	1367											
TBC1D30	0	.	GRCh38	chr12	64870674	64870674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcaatcaattcctgtcGaagtgaataccatgcagctt	13	10	9	9	1	1	1	1	1	0	0	3	3	2	2	2	1	4	3	2	1	5	3	novel		11LU022_TP	11LU022_NB	G	G																c.1364G>T	p.Arg455Leu	p.R455L	ENST00000539867	11/12	240	216	24	283	283	0	strelka-mutect	TBC1D30,missense_variant,p.Arg341Leu,ENST00000542120,;TBC1D30,missense_variant,p.Arg455Leu,ENST00000539867,NM_015279.1;RPL7P39,upstream_gene_variant,,ENST00000481157,;	T	ENST00000539867	Transcript	missense_variant	1672/2594	1364/2286	455/761	R/L	cGa/cTa		1		1	TBC1D30	HGNC	HGNC:29164	protein_coding	YES	CCDS53813.1	ENSP00000440207	Q9Y2I9		UPI000013F308	NM_015279.1	deleterious(0)		11/12		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF291																	MODERATE	1	SNV	1			1										PASS		rs1238599234	.												T	3	4	3	64870674	64870674	G	T	1	0	0	0	0	1	0	0	0	16020	1058	37	1		1	TBC1D30	12	64870674	Missense_Mutation	SNP	G	11LU022_TP	125810	64870674	68404635	696	1368											
GRIP1	0	.	GRCh38	chr12	66392790	66392790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctattgatggctaggattCggtctcctatgtggattgcg	6	15	13	7	2	1	1	0	1	1	0	3	3	1	3	1	4	2	2	1	4	3	6	rs762131350		11LU022_TP	11LU022_NB	C	C																c.2000G>T	p.Arg667Leu	p.R667L	ENST00000398016	17/24	368	319	49	416	415	1	strelka-varscan-mutect	GRIP1,missense_variant,p.Arg719Leu,ENST00000359742,;GRIP1,missense_variant,p.Arg667Leu,ENST00000398016,NM_021150.3;GRIP1,missense_variant,p.Arg667Leu,ENST00000538211,NM_001178074.1;GRIP1,missense_variant,p.Arg534Leu,ENST00000538164,;GRIP1,missense_variant,p.Arg611Leu,ENST00000540433,;GRIP1,missense_variant,p.Arg559Leu,ENST00000536215,;GRIP1,intron_variant,,ENST00000540854,;GRIP1,downstream_gene_variant,,ENST00000542021,;GRIP1,upstream_gene_variant,,ENST00000541299,;	A	ENST00000398016	Transcript	missense_variant	2069/4888	2000/3231	667/1076	R/L	cGa/cTa	rs762131350	1		-1	GRIP1	HGNC	HGNC:18708	protein_coding	YES	CCDS41807.1	ENSP00000381098	Q9Y3R0		UPI0000DD8148	NM_021150.3	deleterious(0)		17/24		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF39,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		rs762131350	.												A	3	1	3	66392790	66392790	C	A	1	0	0	0	0	1	0	0	0	6668	884	31	1		1	GRIP1	12	66392790	Missense_Mutation	SNP	C	11LU022_TP	1522116	66392790	66882519	697	1369											
CAND1	0	.	GRCh38	chr12	67305715	67305715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaataaaaaactatagtGacagcttgacagctgccatg	15	11	7	8	0	1	2	0	2	1	0	1	2	1	2	1	0	4	2	1	0	6	6	novel		11LU022_TP	11LU022_NB	G	G																c.2047G>T	p.Asp683Tyr	p.D683Y	ENST00000545606	10/15	117	102	15	153	153	0	strelka-varscan-mutect	CAND1,missense_variant,p.Asp683Tyr,ENST00000545606,NM_018448.4;CAND1,missense_variant,p.Asp223Tyr,ENST00000544619,;CAND1,intron_variant,,ENST00000540319,;	T	ENST00000545606	Transcript	missense_variant	2484/11251	2047/3693	683/1230	D/Y	Gac/Tac		1		1	CAND1	HGNC	HGNC:30688	protein_coding	YES	CCDS8977.1	ENSP00000442318	Q86VP6		UPI0000037CC5	NM_018448.4	deleterious(0.04)		10/15		hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF1,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	67305715	67305715	G	T	1	0	0	0	0	1	0	0	0	2308	1290	45	2		2	CAND1	12	67305715	Missense_Mutation	SNP	G	11LU022_TP	912925	67305715	65969594	698	1370											
RAB3IP	0	.	GRCh38	chr12	69795215	69795215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccaacatcacctacgcaGgagcctttgccaggtggaaa	11	8	9	13	1	2	0	1	0	1	0	3	2	2	2	4	3	4	1	4	3	3	2	novel		11LU022_TP	11LU022_NB	G	G																c.807G>T	p.Gln269His	p.Q269H	ENST00000550536	6/11	192	174	18	225	225	0	strelka-varscan-mutect	RAB3IP,missense_variant,p.Gln269His,ENST00000550536,NM_175623.3;RAB3IP,missense_variant,p.Gln253His,ENST00000247833,NM_022456.4;RAB3IP,missense_variant,p.Gln47His,ENST00000551641,NM_001024647.3;RAB3IP,missense_variant,p.Gln47His,ENST00000553099,NM_001278402.1;RAB3IP,missense_variant,p.Gln253His,ENST00000378815,;RAB3IP,missense_variant,p.Gln269His,ENST00000362025,NM_175625.3;RAB3IP,missense_variant,p.Gln253His,ENST00000483530,NM_175624.3;RAB3IP,missense_variant,p.Gln143His,ENST00000550647,;RAB3IP,upstream_gene_variant,,ENST00000526994,;RAB3IP,upstream_gene_variant,,ENST00000550847,;RAB3IP,missense_variant,p.Gln269His,ENST00000378809,;RAB3IP,missense_variant,p.Gln269His,ENST00000552199,;RAB3IP,missense_variant,p.Gln253His,ENST00000417413,;RAB3IP,3_prime_UTR_variant,,ENST00000547591,;	T	ENST00000550536	Transcript	missense_variant	1264/9646	807/1431	269/476	Q/H	caG/caT		1		1	RAB3IP	HGNC	HGNC:16508	protein_coding	YES	CCDS8993.1	ENSP00000447300	Q96QF0		UPI000006EB02	NM_175623.3	tolerated(0.17)		6/11		hmmpanther:PTHR14430,hmmpanther:PTHR14430:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	69795215	69795215	G	T	1	0	0	0	0	1	0	0	0	13097	991	35	2		2	RAB3IP	12	69795215	Missense_Mutation	SNP	G	11LU022_TP	2489500	69795215	63480094	699	1371											
NAV3	0	.	GRCh38	chr12	78006500	78006500	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgggcagcctcctgcctCtgccatcccttctccaagtg	4	11	9	17	0	2	0	0	0	2	0	5	0	4	0	6	1	4	2	6	1	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.962C>G	p.Ser321Cys	p.S321C	ENST00000397909	8/40	187	163	24	176	176	0	strelka-varscan-mutect	NAV3,missense_variant,p.Ser321Cys,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Ser321Cys,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Ser321Cys,ENST00000549464,;NAV3,missense_variant,p.Ser264Cys,ENST00000550042,;NAV3,missense_variant,p.Ser145Cys,ENST00000550503,;NAV3,non_coding_transcript_exon_variant,,ENST00000547725,;NAV3,upstream_gene_variant,,ENST00000550673,;	G	ENST00000397909	Transcript	missense_variant	1135/9821	962/7158	321/2385	S/C	tCt/tGt		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	deleterious(0)		8/40		Low_complexity_(Seg):seg,hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	78006500	78006500	C	G	1	0	0	0	0	1	0	0	0	10194	913	32	4		4	NAV3	12	78006500	Missense_Mutation	SNP	C	11LU022_TP	8211285	78006500	55268809	700	1372											
NAV3	0	.	GRCh38	chr12	78051011	78051011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagctgctgtctctaggctgGgaaacatgtcacagattgac	10	10	12	9	0	2	2	1	1	1	1	3	4	2	3	0	2	3	3	0	2	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.2380G>A	p.Gly794Arg	p.G794R	ENST00000397909	11/40	245	226	19	245	245	0	strelka-varscan-mutect	NAV3,missense_variant,p.Gly794Arg,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Gly794Arg,ENST00000536525,NM_014903.5;NAV3,downstream_gene_variant,,ENST00000549464,;RP11-136F16.1,downstream_gene_variant,,ENST00000549103,;	A	ENST00000397909	Transcript	missense_variant	2553/9821	2380/7158	794/2385	G/R	Gga/Aga		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	deleterious(0.02)		11/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	78051011	78051011	G	A	1	0	0	0	0	1	0	0	0	10194	1233	43	3		3	NAV3	12	78051011	Missense_Mutation	SNP	G	11LU022_TP	44511	78051011	55224298	701	1373											
OTOGL	0	.	GRCh38	chr12	80219862	80219862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctttctgttctaagactgGaacatgtgactgtcaaatat	12	14	8	7	0	3	2	1	1	2	1	3	3	3	3	0	1	2	2	0	1	4	4	novel		11LU022_TP	11LU022_NB	G	G																c.257G>T	p.Gly86Val	p.G86V	ENST00000458043	5/58	181	156	25	214	214	0	strelka-varscan-mutect	OTOGL,missense_variant,p.Gly86Val,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Gly86Val,ENST00000547103,;	T	ENST00000458043	Transcript	missense_variant	263/8083	257/7035	86/2344	G/V	gGa/gTa		1		1	OTOGL	HGNC	HGNC:26901	protein_coding	YES		ENSP00000400895		A0A0A0MSS2	UPI0001D089C5	NM_173591.3	deleterious(0.01)		5/58		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF225																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	80219862	80219862	G	T	1	0	0	0	0	1	0	0	0	11371	1174	41	2		2	OTOGL	12	80219862	Missense_Mutation	SNP	G	11LU022_TP	2168851	80219862	53055447	702	1374											
OTOGL	0	.	GRCh38	chr12	80353392	80353392	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgaagcaagaacatgcctGaaccaatggttctatggaca	14	9	10	8	0	1	3	0	2	1	1	1	4	1	4	2	2	4	2	2	2	6	2	novel		11LU022_TP	11LU022_NB	G	G																c.5448G>C	p.=	p.L1816L	ENST00000458043	45/58	112	89	23	129	129	0	strelka-varscan-mutect	OTOGL,synonymous_variant,p.=,ENST00000458043,NM_173591.3;OTOGL,synonymous_variant,p.=,ENST00000547103,;OTOGL,synonymous_variant,p.=,ENST00000298820,;OTOGL,upstream_gene_variant,,ENST00000550182,;OTOGL,upstream_gene_variant,,ENST00000546620,;OTOGL,upstream_gene_variant,,ENST00000551340,;	C	ENST00000458043	Transcript	synonymous_variant	5454/8083	5448/7035	1816/2344	L	ctG/ctC		1		1	OTOGL	HGNC	HGNC:26901	protein_coding	YES		ENSP00000400895		A0A0A0MSS2	UPI0001D089C5	NM_173591.3			45/58		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF225,Pfam_domain:PF01826,Gene3D:2.10.25.10,Superfamily_domains:SSF57567																	LOW	1	SNV	5			1										PASS		rs1303304737	.												C	2	2	3	80353392	80353392	G	C	1	0	0	0	0	0	0	0	1	11371	1277	45	4		4	OTOGL	12	80353392	Silent	SNP	G	11LU022_TP	133530	80353392	52921917	703	1375											
MYF6	0	.	GRCh38	chr12	80708099	80708099	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccaaccccaaccagaGgctgcccaaggtggagattc	10	6	12	13	0	0	2	0	0	0	2	1	3	0	2	5	4	3	1	5	4	3	1	novel		11LU022_TP	11LU022_NB	G	G																c.380G>C	p.Arg127Thr	p.R127T	ENST00000228641	1/3	305	273	32	373	373	0	strelka-varscan-mutect	MYF6,missense_variant,p.Arg127Thr,ENST00000228641,NM_002469.2;	C	ENST00000228641	Transcript	missense_variant	602/1465	380/729	127/242	R/T	aGg/aCg		1		1	MYF6	HGNC	HGNC:7566	protein_coding	YES	CCDS9019.1	ENSP00000228641	P23409		UPI0000001050	NM_002469.2	deleterious(0)		1/3		PROSITE_profiles:PS50888,hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF4,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353,Superfamily_domains:SSF47459																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	80708099	80708099	G	C	1	0	0	0	0	1	0	0	0	10028	1000	35	4		4	MYF6	12	80708099	Missense_Mutation	SNP	G	11LU022_TP	354707	80708099	52567210	704	1376											
PPFIA2	0	.	GRCh38	chr12	81358209	81358209	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaactcagctgaggtgtctAgatgagttctggaaaaaagg	13	9	13	6	0	3	3	1	2	2	1	3	4	3	4	0	3	2	3	0	3	5	2	novel		11LU022_TP	11LU022_NB	A	A																c.1646T>C	p.Leu549Pro	p.L549P	ENST00000549396	16/33	217	180	37	199	199	0	strelka-varscan-mutect	PPFIA2,missense_variant,p.Leu450Pro,ENST00000333447,NM_001220478.2;PPFIA2,missense_variant,p.Leu549Pro,ENST00000550584,NM_001220473.2;PPFIA2,missense_variant,p.Leu549Pro,ENST00000549396,NM_003625.4;PPFIA2,missense_variant,p.Leu531Pro,ENST00000549325,NM_001220474.2;PPFIA2,missense_variant,p.Leu549Pro,ENST00000548586,NM_001220476.2;PPFIA2,missense_variant,p.Leu549Pro,ENST00000552948,NM_001220475.2;PPFIA2,missense_variant,p.Leu475Pro,ENST00000407050,NM_001220477.2;PPFIA2,missense_variant,p.Leu396Pro,ENST00000550359,NM_001282536.1;PPFIA2,missense_variant,p.Leu450Pro,ENST00000443686,;PPFIA2,missense_variant,p.Leu116Pro,ENST00000541570,NM_001220479.2;PPFIA2,missense_variant,p.Leu130Pro,ENST00000553058,;PPFIA2,missense_variant,p.Leu116Pro,ENST00000548670,;PPFIA2,5_prime_UTR_variant,,ENST00000541017,NM_001220480.2;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,3_prime_UTR_variant,,ENST00000551461,;	G	ENST00000549396	Transcript	missense_variant	1807/5363	1646/3774	549/1257	L/P	cTa/cCa		1		-1	PPFIA2	HGNC	HGNC:9246	protein_coding	YES	CCDS55857.1	ENSP00000450337	O75334		UPI0000168655	NM_003625.4	tolerated(0.11)		16/33		hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	81358209	81358209	A	G	1	0	0	0	0	1	0	0	0	12419	420	15	5		5	PPFIA2	12	81358209	Missense_Mutation	SNP	A	11LU022_TP	650110	81358209	51917100	705	1377											
SLC6A15	0	.	GRCh38	chr12	84891887	84891887	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacatttcctaaacctacAgaaaatccaacttgggccag	15	8	5	13	0	0	1	0	0	0	1	2	1	2	1	4	1	3	0	4	1	6	4	novel		11LU022_TP	11LU022_NB	A	A																c.234T>A	p.=	p.S78S	ENST00000266682	2/12	143	112	31	147	147	0	strelka-varscan-mutect	SLC6A15,synonymous_variant,p.=,ENST00000266682,NM_182767.5;SLC6A15,synonymous_variant,p.=,ENST00000450363,NM_018057.6;SLC6A15,synonymous_variant,p.=,ENST00000549540,;SLC6A15,intron_variant,,ENST00000552192,NM_001146335.2;SLC6A15,intron_variant,,ENST00000551612,;SLC6A15,downstream_gene_variant,,ENST00000551010,;SLC6A15,intron_variant,,ENST00000551388,;SLC6A15,intron_variant,,ENST00000547240,;	T	ENST00000266682	Transcript	synonymous_variant	776/4879	234/2193	78/730	S	tcT/tcA		1		-1	SLC6A15	HGNC	HGNC:13621	protein_coding	YES	CCDS9026.1	ENSP00000266682	Q9H2J7		UPI0000038BF2	NM_182767.5			2/12		Superfamily_domains:0053687,Pfam_domain:PF00209,Prints_domain:PR00176,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	84891887	84891887	A	T	1	0	0	0	0	0	0	0	1	14961	175	7	4		4	SLC6A15	12	84891887	Silent	SNP	A	11LU022_TP	3533678	84891887	48383422	706	1378											
LRRIQ1	0	.	GRCh38	chr12	85229612	85229612	+	Frame_Shift_Del	DEL	G	G	-																															aatggcttcacacacaggttGgggttcatgaaacgactagt																										11LU022_TP	11LU022_NB	G	G																c.4921delG	p.Val1641PhefsTer10	p.V1641Ffs*10	ENST00000393217	25/27	157	121	36	206	206	0	sindel-varindel-pindel	LRRIQ1,frameshift_variant,p.Val1641PhefsTer10,ENST00000393217,NM_001079910.1;LRRIQ1,frameshift_variant,p.Val62PhefsTer10,ENST00000526363,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000528777,;	-	ENST00000393217	Transcript	frameshift_variant	4979/5394	4918/5169	1640/1722	G/X	Ggg/gg	COSM375589	1		1	LRRIQ1	HGNC	HGNC:25708	protein_coding	YES	CCDS41816.1	ENSP00000376910	Q96JM4	A0A140VJN5	UPI0000ED4E82	NM_001079910.1			25/27													1						HIGH	1	deletion	5	3	1	1										PASS		.	.												-	7	5	3	85229612	85229612	G	-	1	0	1	0	1	0	0	0	0	8935	1348	47	0		0	LRRIQ1	12	85229612	Frame_Shift_Del	DEL	G	11LU022_TP	337725	85229612	48045697	707	1379											
ELK3	0	.	GRCh38	chr12	96247079	96247079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgactgcaaggcgtctcCggagggccgcgaggcccaca	8	3	15	15	5	1	0	0	0	1	0	2	3	1	1	3	4	2	1	3	4	1	0	rs140037312		11LU022_TP	11LU022_NB	C	C																c.347C>A	p.Pro116Gln	p.P116Q	ENST00000228741	3/5	154	125	29	257	257	0	strelka-varscan-mutect	ELK3,missense_variant,p.Pro116Gln,ENST00000228741,NM_005230.3;ELK3,missense_variant,p.Pro116Gln,ENST00000547860,;ELK3,intron_variant,,ENST00000552142,;ELK3,upstream_gene_variant,,ENST00000549985,;	A	ENST00000228741	Transcript	missense_variant	673/4205	347/1224	116/407	P/Q	cCg/cAg	rs140037312	1		1	ELK3	HGNC	HGNC:3325	protein_coding	YES	CCDS9060.1	ENSP00000228741	P41970	A0A024RBE2	UPI0000000E09	NM_005230.3	tolerated(0.44)		3/5		hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF172,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		rs140037312	.												A	3	1	3	96247079	96247079	C	A	1	0	0	0	0	1	0	0	0	4894	652	23	1		1	ELK3	12	96247079	Missense_Mutation	SNP	C	11LU022_TP	11017467	96247079	37028230	708	1380											
NEDD1	0	.	GRCh38	chr12	96935122	96935122	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagctccagcgtcaggcatCtgtttttctcctgtcaatga	9	13	8	11	1	4	1	2	1	2	0	6	1	5	1	2	1	2	3	2	1	2	2	novel		11LU022_TP	11LU022_NB	C	C																c.657C>T	p.=	p.I219I	ENST00000557644	6/15	313	280	33	331	331	0	strelka-varscan-mutect	NEDD1,synonymous_variant,p.=,ENST00000266742,NM_152905.3;NEDD1,synonymous_variant,p.=,ENST00000429527,NM_001135176.1;NEDD1,synonymous_variant,p.=,ENST00000457368,;NEDD1,synonymous_variant,p.=,ENST00000411739,NM_001135177.1;NEDD1,synonymous_variant,p.=,ENST00000557644,NM_001135175.1;NEDD1,synonymous_variant,p.=,ENST00000553609,;NEDD1,downstream_gene_variant,,ENST00000557478,;NEDD1,non_coding_transcript_exon_variant,,ENST00000555114,;NEDD1,non_coding_transcript_exon_variant,,ENST00000557454,;NEDD1,intron_variant,,ENST00000555806,;	T	ENST00000557644	Transcript	synonymous_variant	803/2367	657/2004	219/667	I	atC/atT		1		1	NEDD1	HGNC	HGNC:7723	protein_coding	YES	CCDS44955.1	ENSP00000451211	Q8NHV4		UPI000004D249	NM_001135175.1			6/15		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF450,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	96935122	96935122	C	T	1	0	0	0	0	0	0	0	1	10337	903	32	3		3	NEDD1	12	96935122	Silent	SNP	C	11LU022_TP	688043	96935122	36340187	709	1381											
UHRF1BP1L	0	.	GRCh38	chr12	100057674	100057674	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaatgacatttgtgaagaGcttcttttcatattcttata	11	18	5	7	0	3	3	1	2	2	1	4	3	4	3	1	0	1	1	1	0	5	8	novel		11LU022_TP	11LU022_NB	G	G																c.3321C>T	p.=	p.S1107S	ENST00000279907	15/21	177	156	21	240	240	0	strelka-varscan-mutect	UHRF1BP1L,synonymous_variant,p.=,ENST00000279907,NM_015054.1;UHRF1BP1L,synonymous_variant,p.=,ENST00000545232,;	A	ENST00000279907	Transcript	synonymous_variant	3534/5168	3321/4395	1107/1464	S	agC/agT		1		-1	UHRF1BP1L	HGNC	HGNC:29102	protein_coding	YES	CCDS31882.1	ENSP00000279907	A0JNW5		UPI0000160563	NM_015054.1			15/21		hmmpanther:PTHR22774,hmmpanther:PTHR22774:SF17																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	100057674	100057674	G	A	1	0	0	0	0	0	0	0	1	17493	962	34	3		3	UHRF1BP1L	12	100057674	Silent	SNP	G	11LU022_TP	3122552	100057674	33217635	710	1382											
OAS3	0	.	GRCh38	chr12	112969638	112969638	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatccggctgacccgacAggcaacctgggccacaatgc	9	5	12	15	2	0	1	0	1	0	0	1	3	1	2	4	4	2	2	4	4	2	0	novel		11LU022_TP	11LU022_NB	A	A																c.3135A>T	p.=	p.T1045T	ENST00000228928	15/16	222	162	60	256	256	0	strelka-varscan-mutect	OAS3,synonymous_variant,p.=,ENST00000228928,NM_006187.3;OAS3,downstream_gene_variant,,ENST00000546973,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS3,non_coding_transcript_exon_variant,,ENST00000549918,;	T	ENST00000228928	Transcript	synonymous_variant	3314/6719	3135/3264	1045/1087	T	acA/acT		1		1	OAS3	HGNC	HGNC:8088	protein_coding	YES	CCDS44981.1	ENSP00000228928	Q9Y6K5		UPI000034ECD3	NM_006187.3			15/16		hmmpanther:PTHR11258:SF4,hmmpanther:PTHR11258,PROSITE_patterns:PS00833,Gene3D:1px5A02,Pfam_domain:PF10421,Superfamily_domains:SSF81631																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	112969638	112969638	A	T	1	0	0	0	0	0	0	0	1	10880	175	7	4		4	OAS3	12	112969638	Silent	SNP	A	11LU022_TP	12911964	112969638	20305671	711	1383											
NOS1	0	.	GRCh38	chr12	117242655	117242655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggctctggaggttttgacGgctaaggagccgggcagctg	7	8	18	8	2	1	1	0	1	1	0	1	3	1	3	1	6	2	5	1	6	1	3	rs758653629		11LU022_TP	11LU022_NB	G	G																c.3115C>A	p.Arg1039Ser	p.R1039S	ENST00000618760	21/30	183	159	24	239	239	0	strelka-varscan-mutect	NOS1,missense_variant,p.Arg1039Ser,ENST00000618760,NM_001204218.1;NOS1,missense_variant,p.Arg1005Ser,ENST00000317775,NM_001204214.1,NM_000620.4,NM_001204213.1;NOS1,missense_variant,p.Arg1039Ser,ENST00000338101,;NOS1,missense_variant,p.Arg1004Ser,ENST00000344089,;TCEB1P32,downstream_gene_variant,,ENST00000548625,;	T	ENST00000618760	Transcript	missense_variant	3826/12283	3115/4407	1039/1468	R/S	Cgt/Agt	rs758653629,COSM4641624	1		-1	NOS1	HGNC	HGNC:7872	protein_coding	YES	CCDS55890.1	ENSP00000477999	P29475		UPI00001FBC10	NM_001204218.1	tolerated(0.11)		21/30		PROSITE_profiles:PS51384,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63,Pfam_domain:PF00667,Gene3D:2.40.30.10,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF63380											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs758653629	.												T	3	4	3	117242655	117242655	G	T	1	0	0	0	0	1	0	0	0	10586	1116	39	1		1	NOS1	12	117242655	Missense_Mutation	SNP	G	11LU022_TP	4273017	117242655	16032654	712	1384											
SRRM4	0	.	GRCh38	chr12	119151085	119151085	+	Missense_Mutation	SNP	G	G	T																															tttggtcccatccacagcccGgagctcacccatgaaagggt																								rs771567762		11LU022_TP	11LU022_NB	G	G																c.1145G>T	p.Arg382Leu	p.R382L	ENST00000267260	10/13	390	348	42	424	423	1	strelka-varscan-mutect	SRRM4,missense_variant,p.Arg382Leu,ENST00000267260,NM_194286.3;	T	ENST00000267260	Transcript	missense_variant	1533/8477	1145/1836	382/611	R/L	cGg/cTg	rs771567762	1		1	SRRM4	HGNC	HGNC:29389	protein_coding	YES	CCDS44994.1	ENSP00000267260	A7MD48	V5T9A0	UPI00001FBC3F	NM_194286.3	deleterious_low_confidence(0.01)		10/13		hmmpanther:PTHR34755,hmmpanther:PTHR34755:SF1																	MODERATE	1	SNV	1			1										PASS		rs771567762	.												T	3	4	3	119151085	119151085	G	T	1	0	0	0	0	1	0	0	0	15532	1116	39	1		1	SRRM4	12	119151085	Missense_Mutation	SNP	G	11LU022_TP	1908430	119151085	14124224	713	1385	34	2									
SRRM4	0	.	GRCh38	chr12	119151086	119151086	+	Silent	SNP	G	G	T																															ttggtcccatccacagcccgGagctcacccatgaaagggtg																								rs749346406		11LU022_TP	11LU022_NB	G	G																c.1146G>T	p.=	p.R382R	ENST00000267260	10/13	387	350	37	427	425	2	strelka-varscan-mutect	SRRM4,synonymous_variant,p.=,ENST00000267260,NM_194286.3;	T	ENST00000267260	Transcript	synonymous_variant	1534/8477	1146/1836	382/611	R	cgG/cgT	rs749346406,COSM4730118,COSM4730119,COSM4730120	1		1	SRRM4	HGNC	HGNC:29389	protein_coding	YES	CCDS44994.1	ENSP00000267260	A7MD48	V5T9A0	UPI00001FBC3F	NM_194286.3			10/13		hmmpanther:PTHR34755,hmmpanther:PTHR34755:SF1											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs749346406	.												T	2	4	3	119151086	119151086	G	T	1	0	0	0	0	0	0	0	1	15532	1161	41	2		2	SRRM4	12	119151086	Silent	SNP	G	11LU022_TP	1	119151086	14124223	714	1386	34	2									
GCN1	0	.	GRCh38	chr12	120137954	120137954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagggccagcatgaccgctgGgaggatcacgccaagatgac	11	4	14	12	2	1	3	1	2	0	1	1	5	1	5	3	3	1	2	3	3	1	0			11LU022_TP	11LU022_NB	G	G																c.6340C>G	p.Pro2114Ala	p.P2114A	ENST00000300648	48/58	165	122	43	201	201	0	strelka-varscan-mutect	GCN1,missense_variant,p.Pro2114Ala,ENST00000300648,NM_006836.1;GCN1,upstream_gene_variant,,ENST00000549815,;GCN1,downstream_gene_variant,,ENST00000547263,;	C	ENST00000300648	Transcript	missense_variant	6353/8675	6340/8016	2114/2671	P/A	Cca/Gca	COSM5613499	1		-1	GCN1	HGNC	HGNC:4199	protein_coding	YES	CCDS41847.1	ENSP00000300648	Q92616		UPI0000451CA7	NM_006836.1	deleterious(0)		48/58		Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7,Superfamily_domains:SSF48371											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	3	120137954	120137954	G	C	1	0	0	0	0	1	0	0	0	6169	1232	43	4		4	GCN1	12	120137954	Missense_Mutation	SNP	G	11LU022_TP	986868	120137954	13137355	715	1387											
P2RX7	0	.	GRCh38	chr12	121166124	121166124	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagaatccacagtgtccCattttccgactaggagacat	12	10	7	12	1	1	2	1	0	0	2	4	4	4	2	3	1	0	0	3	1	2	3	novel		11LU022_TP	11LU022_NB	C	C																c.681C>T	p.=	p.P227P	ENST00000328963	7/13	148	138	10	174	174	0	strelka-varscan-mutect	P2RX7,synonymous_variant,p.=,ENST00000328963,NM_002562.5;P2RX7,synonymous_variant,p.=,ENST00000535250,;P2RX7,synonymous_variant,p.=,ENST00000541564,;P2RX7,3_prime_UTR_variant,,ENST00000261826,;P2RX7,3_prime_UTR_variant,,ENST00000537312,;P2RX7,3_prime_UTR_variant,,ENST00000539606,;P2RX7,3_prime_UTR_variant,,ENST00000538011,;P2RX7,3_prime_UTR_variant,,ENST00000541716,;P2RX7,3_prime_UTR_variant,,ENST00000541022,;P2RX7,3_prime_UTR_variant,,ENST00000545434,;P2RX7,non_coding_transcript_exon_variant,,ENST00000539695,;P2RX7,intron_variant,,ENST00000535600,;P2RX7,downstream_gene_variant,,ENST00000535928,;	T	ENST00000328963	Transcript	synonymous_variant	824/5161	681/1788	227/595	P	ccC/ccT		1		1	P2RX7	HGNC	HGNC:8537	protein_coding	YES	CCDS9213.1	ENSP00000330696	Q99572		UPI0001DB9556	NM_002562.5			7/13		hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF13,Pfam_domain:PF00864,TIGRFAM_domain:TIGR00863,Gene3D:3h9vA02																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	121166124	121166124	C	T	1	0	0	0	0	0	0	0	1	11418	581	21	3		3	P2RX7	12	121166124	Silent	SNP	C	11LU022_TP	1028170	121166124	12109185	716	1388											
DNAH10	0	.	GRCh38	chr12	123918768	123918768	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagccaggaggggggccatCctgttcttcgtcctgtctga	5	10	14	12	1	2	1	0	1	2	0	5	2	4	2	4	4	1	2	4	4	0	2			11LU022_TP	11LU022_NB	C	C																c.10971C>A	p.=	p.I3657I	ENST00000638045	64/78	73	54	19	72	72	0	varscan-mutect	DNAH10,synonymous_variant,p.=,ENST00000409039,;DNAH10,synonymous_variant,p.=,ENST00000638045,NM_207437.3;DNAH10,downstream_gene_variant,,ENST00000540041,;CCDC92,non_coding_transcript_exon_variant,,ENST00000542348,;CCDC92,downstream_gene_variant,,ENST00000544798,;	A	ENST00000638045	Transcript	synonymous_variant	10996/13678	10971/13416	3657/4471	I	atC/atA	COSM1718630,COSM1718631	1		1	DNAH10	HGNC	HGNC:2941	protein_coding	YES	CCDS9255.2	ENSP00000489675			UPI00014F7B89	NM_207437.3			64/78		hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676											1,1						LOW	1	SNV			1,1	1										PASS		.	.												A	2	1	3	123918768	123918768	C	A	1	0	0	0	0	0	0	0	1	4411	845	30	2		2	DNAH10	12	123918768	Silent	SNP	C	11LU022_TP	2752644	123918768	9356541	717	1389											
PIWIL1	0	.	GRCh38	chr12	130357064	130357064	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgatacaaaatctatttaaAgttacaccagccatgggcat	15	12	6	8	0	1	1	0	1	1	0	1	1	1	1	2	1	3	2	2	1	7	6	novel		11LU022_TP	11LU022_NB	A	A																c.1551A>T	p.Lys517Asn	p.K517N	ENST00000245255	13/21	79	65	14	113	113	0	strelka-varscan-mutect	PIWIL1,missense_variant,p.Lys517Asn,ENST00000245255,NM_004764.4,NM_001190971.1;	T	ENST00000245255	Transcript	missense_variant	1823/3897	1551/2586	517/861	K/N	aaA/aaT		1		1	PIWIL1	HGNC	HGNC:9007	protein_coding	YES	CCDS9268.1	ENSP00000245255	Q96J94	A0A024RBS5	UPI000007059F	NM_004764.4,NM_001190971.1	deleterious(0)		13/21		Gene3D:3.40.50.2300,hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF46,Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	130357064	130357064	A	T	1	0	0	0	0	1	0	0	0	12053	69	3	4		4	PIWIL1	12	130357064	Missense_Mutation	SNP	A	11LU022_TP	6438296	130357064	2918245	718	1390											
ANHX	0	.	GRCh38	chr12	133226349	133226349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctttgagactgtctcatCtgcgggaaagtccggggcta	7	11	14	9	2	2	1	1	1	2	1	4	3	3	2	1	4	1	2	1	4	2	2	novel		11LU022_TP	11LU022_NB	C	C																c.808G>T	p.Asp270Tyr	p.D270Y	ENST00000545940	5/8	270	235	35	352	352	0	strelka-varscan-mutect	ANHX,missense_variant,p.Asp270Tyr,ENST00000545940,;ANHX,missense_variant,p.Asp270Tyr,ENST00000419717,NM_001191054.1;	A	ENST00000545940	Transcript	missense_variant	2547/3452	808/1140	270/379	D/Y	Gat/Tat		1		-1	ANHX	HGNC	HGNC:40024	protein_coding	YES	CCDS53855.1	ENSP00000439513	E9PGG2		UPI0001AE6BD3		deleterious(0.01)		5/8		hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF34																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	133226349	133226349	C	A	1	0	0	0	0	1	0	0	0	719	913	32	2		2	ANHX	12	133226349	Missense_Mutation	SNP	C	11LU022_TP	2869285	133226349	48960	719	1391											
AMER2	0	.	GRCh38	chr13	25170339	25170339	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtcgtccacctcgtccggGctggccatctcttccccgcc	2	10	10	19	4	1	0	0	0	1	0	7	0	4	0	7	2	0	1	7	2	0	1	novel		11LU022_TP	11LU022_NB	G	G																c.1281C>T	p.=	p.S427S	ENST00000515384	1/1	97	65	32	194	193	1	strelka-varscan-mutect	AMER2,synonymous_variant,p.=,ENST00000357816,NM_199138.2;AMER2,synonymous_variant,p.=,ENST00000515384,NM_152704.3;LINC00463,downstream_gene_variant,,ENST00000413501,;	A	ENST00000515384	Transcript	synonymous_variant	1949/3197	1281/2016	427/671	S	agC/agT		1		-1	AMER2	HGNC	HGNC:26360	protein_coding	YES	CCDS53859.1	ENSP00000426528	Q8N7J2		UPI0000231C76	NM_152704.3			1/1		hmmpanther:PTHR22237:SF1,hmmpanther:PTHR22237,Pfam_domain:PF09422																	LOW		SNV				1										PASS		.	.												A	2	1	3	25170339	25170339	G	A	1	0	0	0	0	0	0	0	1	668	1194	42	3		3	AMER2	13	25170339	Silent	SNP	G	11LU022_TP		25170339	89193989	720	1392											
CDK8	0	.	GRCh38	chr13	26353880	26353880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgttgcacagagatttGgtaagttgacctgtaattgg	9	14	14	4	0	0	2	0	1	0	1	0	3	0	2	1	3	1	5	1	3	2	6	novel		11LU022_TP	11LU022_NB	G	G																c.456G>T	p.Leu152Phe	p.L152F	ENST00000381527	4/13	190	146	44	241	241	0	strelka-varscan-mutect	CDK8,missense_variant,p.Leu152Phe,ENST00000381527,NM_001318368.1,NM_001260.1;CDK8,missense_variant,p.Leu152Phe,ENST00000536792,;	T	ENST00000381527	Transcript	missense_variant,splice_region_variant	959/3055	456/1395	152/464	L/F	ttG/ttT		1		1	CDK8	HGNC	HGNC:1779	protein_coding	YES	CCDS9317.1	ENSP00000370938	P49336		UPI000002E531	NM_001318368.1,NM_001260.1	deleterious(0.02)		4/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF131,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	26353880	26353880	G	T	1	0	0	0	0	1	0	0	0	2854	1362	47	2		2	CDK8	13	26353880	Missense_Mutation	SNP	G	11LU022_TP	1183541	26353880	88010448	721	1393											
FLT3	0	.	GRCh38	chr13	28028226	28028226	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaatattctcgtggcttcCcagctgggtcatcatcttga	8	13	8	12	1	4	1	2	1	2	0	6	1	5	1	1	2	1	2	1	2	2	4			11LU022_TP	11LU022_NB	C	C																c.2005G>T	p.Gly669Ter	p.G669*	ENST00000241453	16/24	169	125	44	225	225	0	strelka-varscan-mutect	FLT3,stop_gained,p.Gly669Ter,ENST00000241453,NM_004119.2;FLT3,stop_gained,p.Gly669Ter,ENST00000380987,;	A	ENST00000241453	Transcript	stop_gained	2087/3842	2005/2982	669/993	G/*	Gga/Tga	COSM4533690	1		-1	FLT3	HGNC	HGNC:3765	protein_coding	YES	CCDS31953.1	ENSP00000241453	P36888		UPI00001FC90B	NM_004119.2			16/24		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF356,PROSITE_patterns:PS00240,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,Superfamily_domains:SSF56112											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	3	28028226	28028226	C	A	1	0	0	0	0	0	1	0	0	5798	632	22	2		2	FLT3	13	28028226	Nonsense_Mutation	SNP	C	11LU022_TP	1674346	28028226	86336102	722	1394											
MTUS2	0	.	GRCh38	chr13	29480218	29480218	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaggcggttcgaggacGaggtgaagaggctgggctgg	8	6	22	5	3	0	3	0	1	0	2	1	7	0	4	0	8	0	3	0	8	1	1	rs776367111		11LU022_TP	11LU022_NB	G	G																c.3283G>T	p.Glu1095Ter	p.E1095*	ENST00000612955	10/16	133	92	41	153	153	0	strelka-varscan-mutect	MTUS2,stop_gained,p.Glu1095Ter,ENST00000612955,NM_001033602.2;MTUS2,stop_gained,p.Glu64Ter,ENST00000380808,NM_015233.5;MTUS2,5_prime_UTR_variant,,ENST00000542829,;MTUS2-AS1,intron_variant,,ENST00000323380,;MTUS2-AS1,intron_variant,,ENST00000587588,;MTUS2-AS1,downstream_gene_variant,,ENST00000626029,;	T	ENST00000612955	Transcript	stop_gained	3832/7430	3283/4140	1095/1379	E/*	Gag/Tag	rs776367111	1		1	MTUS2	HGNC	HGNC:20595	protein_coding	YES	CCDS45022.1	ENSP00000483729		J3KQA9	UPI0000F734AC	NM_001033602.2			10/16		Low_complexity_(Seg):seg,hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200,Coiled-coils_(Ncoils):Coil																	HIGH	1	SNV	5			1										PASS		rs776367111	.												T	4	4	3	29480218	29480218	G	T	1	0	0	0	0	0	1	0	0	9964	1059	37	1		1	MTUS2	13	29480218	Nonsense_Mutation	SNP	G	11LU022_TP	1451992	29480218	84884110	723	1395											
NBEA	0	.	GRCh38	chr13	35109363	35109363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaataccttgatggtttatCtcatggagcacctttgctga	11	14	8	8	0	1	2	1	2	1	0	2	3	1	3	2	2	3	3	2	2	4	5	novel		11LU022_TP	11LU022_NB	C	C																c.1754C>A	p.Ser585Tyr	p.S585Y	ENST00000400445	12/58	96	73	23	122	122	0	strelka-varscan-mutect	NBEA,missense_variant,p.Ser585Tyr,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Ser585Tyr,ENST00000310336,;NBEA,missense_variant,p.Ser585Tyr,ENST00000629018,;NBEA,missense_variant,p.Ser585Tyr,ENST00000379939,;	A	ENST00000400445	Transcript	missense_variant	2288/11119	1754/8841	585/2946	S/Y	tCt/tAt		1		1	NBEA	HGNC	HGNC:7648	protein_coding	YES	CCDS45026.1	ENSP00000383295	Q8NFP9		UPI00004FF92F	NM_015678.4	tolerated(0.27)		12/58		Pfam_domain:PF15787,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF62,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	35109363	35109363	C	A	1	0	0	0	0	1	0	0	0	10198	913	32	2		2	NBEA	13	35109363	Missense_Mutation	SNP	C	11LU022_TP	5629145	35109363	79254965	724	1396											
POSTN	0	.	GRCh38	chr13	37598657	37598657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaagatcttgtcataatGattgttggcgtttatagggt	10	15	11	5	1	2	2	1	1	1	1	2	2	2	2	1	2	1	2	1	2	4	7			11LU022_TP	11LU022_NB	G	G																c.70C>A	p.His24Asn	p.H24N	ENST00000379747	1/23	111	76	35	170	170	0	strelka-varscan-mutect	POSTN,missense_variant,p.His24Asn,ENST00000379747,NM_006475.2;POSTN,missense_variant,p.His24Asn,ENST00000541179,NM_001135936.1,NM_001135935.1;POSTN,missense_variant,p.His24Asn,ENST00000379749,;POSTN,missense_variant,p.His24Asn,ENST00000379743,NM_001286665.1;POSTN,missense_variant,p.His24Asn,ENST00000541481,NM_001286666.1,NM_001286667.1;POSTN,missense_variant,p.His24Asn,ENST00000379742,NM_001135934.1;	T	ENST00000379747	Transcript	missense_variant	188/3373	70/2511	24/836	H/N	Cat/Aat	COSM4506062	1		-1	POSTN	HGNC	HGNC:16953	protein_coding	YES	CCDS9364.1	ENSP00000369071	Q15063	A0A024RDS2	UPI000013CEB8	NM_006475.2	tolerated(0.23)		1/23		PIRSF_domain:PIRSF016553,hmmpanther:PTHR10900,hmmpanther:PTHR10900:SF12											1						MODERATE	1	SNV	1		1	1										PASS		rs996691431	.												T	3	4	3	37598657	37598657	G	T	1	0	0	0	0	1	0	0	0	12373	1290	45	2		2	POSTN	13	37598657	Missense_Mutation	SNP	G	11LU022_TP	2489294	37598657	76765671	725	1397											
SPERT	0	.	GRCh38	chr13	45713231	45713231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaacttgtacagcacccCtcgctgcgcgcagcaggccg	8	5	10	18	4	0	0	0	0	0	0	1	0	0	0	4	1	5	5	4	1	2	2	novel		11LU022_TP	11LU022_NB	C	C																c.206C>T	p.Pro69Leu	p.P69L	ENST00000310521	3/3	80	55	25	85	85	0	strelka-varscan-mutect	SPERT,missense_variant,p.Pro33Leu,ENST00000378966,;SPERT,missense_variant,p.Pro69Leu,ENST00000310521,NM_152719.2;SPERT,missense_variant,p.Pro33Leu,ENST00000610924,NM_001286342.1;SPERT,missense_variant,p.Pro42Leu,ENST00000533564,;	T	ENST00000310521	Transcript	missense_variant	286/1613	206/1347	69/448	P/L	cCt/cTt		1		1	SPERT	HGNC	HGNC:30720	protein_coding	YES	CCDS9399.1	ENSP00000309189	Q8NA61	A0A140VJV5	UPI0000070F5F	NM_152719.2	deleterious_low_confidence(0)		3/3		hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF13																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	45713231	45713231	C	T	1	0	0	0	0	1	0	0	0	15390	681	24	3		3	SPERT	13	45713231	Missense_Mutation	SNP	C	11LU022_TP	8114574	45713231	68651097	726	1398											
RB1	0	.	GRCh38	chr13	48381444	48381444	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcccttgcatggctctcaGtaagtagctaaataattgaa	14	12	7	8	0	1	1	1	1	1	0	3	1	2	1	1	1	2	5	1	1	7	6	rs587778857		11LU022_TP	11LU022_NB	G	G																c.1695+1G>T		p.X565_splice	ENST00000267163		123	94	29	123	123	0	strelka-varscan-mutect	RB1,splice_donor_variant,,ENST00000267163,NM_000321.2;	T	ENST00000267163	Transcript	splice_donor_variant	-/4840	1695/2787	565/928			rs587778857,CS051701,COSM1756815,COSM254916,COSM5027769,COSM5027770	1		1	RB1	HGNC	HGNC:9884	protein_coding	YES	CCDS31973.1	ENSP00000267163	P06400	A0A024RDV3	UPI0000001C79	NM_000321.2				17/26											pathogenic	0,0,1,1,1,1						HIGH	1	SNV	1		1,1,1,1,1,1	1										PASS		rs587778857	.												T	5	4	3	48381444	48381444	G	T	1	0	0	0	0	0	0	1	0	13259	1043	36	2		2	RB1	13	48381444	Splice_Site	SNP	G	11LU022_TP	2668213	48381444	65982884	727	1399											
MYCBP2	0	.	GRCh38	chr13	77088837	77088837	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaatgtcttcatacctccaTagcaaaaactcgacaagcag	15	10	5	11	1	2	0	1	0	1	0	4	1	3	0	2	0	4	2	2	0	6	4			11LU022_TP	11LU022_NB	T	T																c.10606A>T	p.Met3536Leu	p.M3536L	ENST00000544440	61/83	156	95	61	162	162	0	strelka-varscan-mutect	MYCBP2,missense_variant,p.Met3536Leu,ENST00000357337,NM_015057.4;MYCBP2,missense_variant,p.Met3536Leu,ENST00000544440,;RP11-226E21.4,intron_variant,,ENST00000638101,;MYCBP2,upstream_gene_variant,,ENST00000429715,;MYCBP2-AS1,intron_variant,,ENST00000593933,;MYCBP2-AS1,intron_variant,,ENST00000629771,;MYCBP2-AS1,intron_variant,,ENST00000627409,;MYCBP2-AS1,intron_variant,,ENST00000630676,;MYCBP2-AS1,downstream_gene_variant,,ENST00000422231,;MYCBP2-AS1,downstream_gene_variant,,ENST00000450627,;MYCBP2-AS1,downstream_gene_variant,,ENST00000448470,;MYCBP2,downstream_gene_variant,,ENST00000485061,;RP11-226E21.4,intron_variant,,ENST00000637192,;	A	ENST00000544440	Transcript	missense_variant	10624/14664	10606/13923	3536/4640	M/L	Atg/Ttg	COSM1607226,COSM1607227	1		-1	MYCBP2	HGNC	HGNC:23386	protein_coding	YES		ENSP00000444596	O75592		UPI0000212757		tolerated(0.17)		61/83													1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1219177871	.												A	3	1	3	77088837	77088837	T	A	1	0	0	0	0	1	0	0	0	10018	1420	49	4		4	MYCBP2	13	77088837	Missense_Mutation	SNP	T	11LU022_TP	28707393	77088837	37275491	728	1400											
DZIP1	0	.	GRCh38	chr13	95593959	95593959	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catactgcattaatccccaaGgtttccagtttctccatcaa	11	13	4	13	0	2	0	1	0	1	0	5	0	4	0	4	1	2	3	4	1	4	4	novel		11LU022_TP	11LU022_NB	G	G																c.1665C>G	p.=	p.T555T	ENST00000347108	14/21	87	57	30	146	146	0	strelka-varscan-mutect	DZIP1,synonymous_variant,p.=,ENST00000361396,NM_014934.4;DZIP1,synonymous_variant,p.=,ENST00000347108,;DZIP1,synonymous_variant,p.=,ENST00000361156,;DZIP1,synonymous_variant,p.=,ENST00000376829,NM_198968.3;	C	ENST00000347108	Transcript	synonymous_variant	2098/7068	1665/2604	555/867	T	acC/acG		1		-1	DZIP1	HGNC	HGNC:20908	protein_coding	YES	CCDS9478.1	ENSP00000257312	Q86YF9		UPI000000D9B8				14/21		hmmpanther:PTHR21502,hmmpanther:PTHR21502:SF5																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	3	95593959	95593959	G	C	1	0	0	0	0	0	0	0	1	4687	987	35	4		4	DZIP1	13	95593959	Silent	SNP	G	11LU022_TP	18505122	95593959	18770369	729	1401											
CLYBL	0	.	GRCh38	chr13	99866283	99866283	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggatattctctacgcccgGcaaaagattgttgtcatagc	10	12	9	10	2	2	1	1	0	1	1	3	2	2	2	1	2	2	2	1	2	5	6	novel		11LU022_TP	11LU022_NB	G	G																c.678G>T	p.=	p.R226R	ENST00000376355	6/8	291	191	100	291	291	0	strelka-varscan-mutect	CLYBL,synonymous_variant,p.=,ENST00000376355,;CLYBL,synonymous_variant,p.=,ENST00000339105,NM_206808.3;CLYBL,synonymous_variant,p.=,ENST00000376354,;CLYBL,downstream_gene_variant,,ENST00000416504,;CLYBL,downstream_gene_variant,,ENST00000443887,;CLYBL,upstream_gene_variant,,ENST00000425186,;CLYBL,upstream_gene_variant,,ENST00000419700,;	T	ENST00000376355	Transcript	synonymous_variant	705/6771	678/1023	226/340	R	cgG/cgT		1		1	CLYBL	HGNC	HGNC:18355	protein_coding	YES	CCDS32002.1	ENSP00000365533	Q8N0X4		UPI0000071ADE				6/8		hmmpanther:PTHR11105:SF0,hmmpanther:PTHR11105,PIRSF_domain:PIRSF015582,Gene3D:3.20.20.60,Pfam_domain:PF03328,Superfamily_domains:SSF51621																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	3	99866283	99866283	G	T	1	0	0	0	0	0	0	0	1	3346	1190	42	2		2	CLYBL	13	99866283	Silent	SNP	G	11LU022_TP	4272324	99866283	14498045	730	1402											
ZIC5	0	.	GRCh38	chr13	99971120	99971120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgccgctgctgccgcCgccgccactgttggtggtgg	1	10	15	15	4	0	0	0	0	0	0	0	0	0	0	6	3	3	3	6	3	0	2	novel		11LU022_TP	11LU022_NB	C	C																c.556G>T	p.Gly186Cys	p.G186C	ENST00000267294	1/2	147	102	45	213	212	1	strelka-varscan-mutect	ZIC5,missense_variant,p.Gly186Cys,ENST00000267294,NM_033132.3;	A	ENST00000267294	Transcript	missense_variant	790/4639	556/1992	186/663	G/C	Ggc/Tgc		1		-1	ZIC5	HGNC	HGNC:20322	protein_coding	YES	CCDS9494.2	ENSP00000267294	Q96T25		UPI0000458928	NM_033132.3	deleterious_low_confidence(0.03)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR19818																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	99971120	99971120	C	A	1	0	0	0	0	1	0	0	0	18260	652	23	1		1	ZIC5	13	99971120	Missense_Mutation	SNP	C	11LU022_TP	104837	99971120	14393208	731	1403											
CCDC168	0	.	GRCh38	chr13	102732325	102732325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttaacttaacatcataCtctaatttctttctattgct	10	21	1	9	0	5	0	1	0	4	0	5	0	5	0	0	0	4	1	0	0	5	10	novel		11LU022_TP	11LU022_NB	C	C																c.18372G>T	p.Glu6124Asp	p.E6124D	ENST00000322527	4/4	126	73	53	145	143	2	strelka-varscan-mutect	CCDC168,missense_variant,p.Glu6124Asp,ENST00000322527,NM_001146197.1;	A	ENST00000322527	Transcript	missense_variant	18510/21466	18372/21246	6124/7081	E/D	gaG/gaT		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	deleterious(0.01)		4/4		hmmpanther:PTHR35542,hmmpanther:PTHR35542:SF1																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	3	102732325	102732325	C	A	1	0	0	0	0	1	0	0	0	2484	564	20	2		2	CCDC168	13	102732325	Missense_Mutation	SNP	C	11LU022_TP	2761205	102732325	11632003	732	1404											
COL4A1	0	.	GRCh38	chr13	110174686	110174686	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcattcctgggatccCaatgcttcctttttctccct	4	15	6	16	0	1	0	0	0	1	0	5	1	4	1	5	2	1	2	5	2	1	4	novel		11LU022_TP	11LU022_NB	C	C																c.3262G>C	p.Gly1088Arg	p.G1088R	ENST00000375820	38/52	421	272	149	578	578	0	strelka-varscan-mutect	COL4A1,missense_variant,p.Gly1088Arg,ENST00000375820,NM_001845.5;	G	ENST00000375820	Transcript	missense_variant	3384/6532	3262/5010	1088/1669	G/R	Ggg/Cgg		1		-1	COL4A1	HGNC	HGNC:2202	protein_coding	YES	CCDS9511.1	ENSP00000364979	P02462		UPI000004981D	NM_001845.5	deleterious(0)		38/52		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF543,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	110174686	110174686	C	G	1	0	0	0	0	1	0	0	0	3478	594	21	4		4	COL4A1	13	110174686	Missense_Mutation	SNP	C	11LU022_TP	7442361	110174686	4189642	733	1405											
POTEM	0	.	GRCh38	chr14	18976098	18976098	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgagcaaaaacagcaagTggtgaaattcttaatcaaga	19	8	8	6	0	2	3	1	2	1	1	2	3	2	3	0	1	3	2	0	1	6	2	novel		11LU022_TP	11LU022_NB	T	T																c.860T>A	p.Val287Glu	p.V287E	ENST00000547889	4/11	37	18	19	30	30	0	strelka-varscan-mutect	POTEM,missense_variant,p.Val287Glu,ENST00000547889,NM_001145442.1;RNU6-1239P,upstream_gene_variant,,ENST00000391310,;CTD-2311B13.5,downstream_gene_variant,,ENST00000613990,;POTEM,missense_variant,p.Val287Glu,ENST00000616847,;POTEM,3_prime_UTR_variant,,ENST00000552966,;	A	ENST00000547889	Transcript	missense_variant	912/1817	860/1527	287/508	V/E	gTg/gAg		1		1	POTEM	HGNC	HGNC:37096	protein_coding	YES	CCDS73609.1	ENSP00000448062	A6NI47		UPI00006C1407	NM_001145442.1	deleterious(0)		4/11		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	18976098	18976098	T	A	1	0	0	0	0	1	0	0	0	12384	1696	59	4		4	POTEM	14	18976098	Missense_Mutation	SNP	T	11LU022_TP		18976098	88067620	734	1406											
OR4N2	0	.	GRCh38	chr14	19828019	19828019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaagctggcctgcaccGacacatttgtggtggagctt	8	11	11	11	1	2	0	2	0	0	0	2	2	2	1	2	3	3	3	2	3	1	2	rs200471583		11LU022_TP	11LU022_NB	G	G																c.571G>T	p.Asp191Tyr	p.D191Y	ENST00000315947	1/1	409	348	61	412	410	2	strelka-varscan-mutect	OR4N2,missense_variant,p.Asp191Tyr,ENST00000315947,NM_001004723.2;OR4N2,downstream_gene_variant,,ENST00000557414,;OR4N2,downstream_gene_variant,,ENST00000557677,;	T	ENST00000315947	Transcript	missense_variant	571/924	571/924	191/307	D/Y	Gac/Tac	rs200471583	1		1	OR4N2	HGNC	HGNC:14742	protein_coding	YES	CCDS32022.1	ENSP00000319601	Q8NGD1	A0A126GVT2	UPI000004A5DF	NM_001004723.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF439,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs200471583	.												T	3	4	3	19828019	19828019	G	T	1	0	0	0	0	1	0	0	0	11153	1058	37	1		1	OR4N2	14	19828019	Missense_Mutation	SNP	G	11LU022_TP	851921	19828019	87215699	735	1407											
TEP1	0	.	GRCh38	chr14	20380943	20380943	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctcaccatagagggcatGggcctccaagagccgagaga	12	5	12	12	1	1	3	1	0	1	3	3	5	2	3	4	2	1	1	4	2	2	1	novel		11LU022_TP	11LU022_NB	G	G																c.4750C>G	p.His1584Asp	p.H1584D	ENST00000262715	33/55	184	151	33	208	208	0	strelka-varscan-mutect	TEP1,missense_variant,p.His1584Asp,ENST00000262715,NM_007110.4;TEP1,missense_variant,p.His1476Asp,ENST00000556935,;TEP1,missense_variant,p.His927Asp,ENST00000555008,;TEP1,3_prime_UTR_variant,,ENST00000555727,;TEP1,3_prime_UTR_variant,,ENST00000557314,;TEP1,upstream_gene_variant,,ENST00000556488,;TEP1,upstream_gene_variant,,ENST00000471684,;	C	ENST00000262715	Transcript	missense_variant	4791/10695	4750/7884	1584/2627	H/D	Cat/Gat		1		-1	TEP1	HGNC	HGNC:11726	protein_coding	YES	CCDS9548.1	ENSP00000262715	Q99973		UPI000013D30B	NM_007110.4	deleterious(0.01)		33/55		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF448																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	20380943	20380943	G	C	1	0	0	0	0	1	0	0	0	16175	1348	47	4		4	TEP1	14	20380943	Missense_Mutation	SNP	G	11LU022_TP	552924	20380943	86662775	736	1408											
TEP1	0	.	GRCh38	chr14	20387906	20387906	+	Nonsense_Mutation	SNP	C	C	A																															catagaaacacagactgaccCttgctgggaaacaggagcca																								novel		11LU022_TP	11LU022_NB	C	C																c.2683G>T	p.Gly895Ter	p.G895*	ENST00000262715	18/55	101	80	21	158	157	1	strelka-varscan-mutect	TEP1,stop_gained,p.Gly895Ter,ENST00000262715,NM_007110.4;TEP1,stop_gained,p.Gly787Ter,ENST00000556935,;TEP1,stop_gained,p.Gly895Ter,ENST00000555727,;TEP1,stop_gained,p.Gly245Ter,ENST00000555008,;	A	ENST00000262715	Transcript	stop_gained,splice_region_variant	2724/10695	2683/7884	895/2627	G/*	Gga/Tga		1		-1	TEP1	HGNC	HGNC:11726	protein_coding	YES	CCDS9548.1	ENSP00000262715	Q99973		UPI000013D30B	NM_007110.4			18/55																			HIGH	1	SNV	1			1										PASS		rs1168035545	.												A	4	1	3	20387906	20387906	C	A	1	0	0	0	0	0	1	0	0	16175	695	24	2		2	TEP1	14	20387906	Nonsense_Mutation	SNP	C	11LU022_TP	6963	20387906	86655812	737	1409	35	2									
TEP1	0	.	GRCh38	chr14	20387908	20387908	+	Missense_Mutation	SNP	T	T	G																															tagaaacacagactgaccctTgctgggaaacaggagccaag																								novel		11LU022_TP	11LU022_NB	T	T																c.2681A>C	p.Gln894Pro	p.Q894P	ENST00000262715	18/55	102	82	20	155	155	0	strelka-varscan-mutect	TEP1,missense_variant,p.Gln894Pro,ENST00000262715,NM_007110.4;TEP1,missense_variant,p.Gln786Pro,ENST00000556935,;TEP1,missense_variant,p.Gln894Pro,ENST00000555727,;TEP1,missense_variant,p.Gln244Pro,ENST00000555008,;	G	ENST00000262715	Transcript	missense_variant	2722/10695	2681/7884	894/2627	Q/P	cAa/cCa		1		-1	TEP1	HGNC	HGNC:11726	protein_coding	YES	CCDS9548.1	ENSP00000262715	Q99973		UPI000013D30B	NM_007110.4	tolerated(0.12)		18/55																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	20387908	20387908	T	G	1	0	0	0	0	1	0	0	0	16175	1826	63	5		5	TEP1	14	20387908	Missense_Mutation	SNP	T	11LU022_TP	2	20387908	86655810	738	1410	35	2									
OR6J1	0	.	GRCh38	chr14	22633798	22633798	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttacagaatagacacaTggtggagaagagcaagccct	15	7	11	8	0	0	4	0	0	0	4	0	5	0	4	1	2	4	2	1	2	5	3	novel		11LU022_TP	11LU022_NB	T	T																c.1014A>G	p.=	p.P338P	ENST00000540461	1/1	63	52	11	55	55	0	strelka-varscan-mutect	OR6J1,synonymous_variant,p.=,ENST00000540461,;AC243945.1,downstream_gene_variant,,ENST00000623775,;	C	ENST00000540461	Transcript	synonymous_variant	1014/1044	1014/1044	338/347	P	ccA/ccG		1		-1	OR6J1	HGNC	HGNC:14707	protein_coding	YES		ENSP00000437629	Q8NGC5		UPI000462094B				1/1																			LOW	1	SNV				1										PASS		.	.												C	2	2	3	22633798	22633798	T	C	1	0	0	0	0	0	0	0	1	11270	1451	51	5		5	OR6J1	14	22633798	Silent	SNP	T	11LU022_TP	2245890	22633798	84409920	739	1411											
MYH7	0	.	GRCh38	chr14	23424137	23424137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcctcagcatctgccaGgttgtcttgttcctgaaggt	5	13	11	12	1	3	1	1	1	2	0	5	1	5	1	3	2	2	4	3	2	1	3	rs727504407		11LU022_TP	11LU022_NB	G	G																c.2692C>A	p.Leu898Met	p.L898M	ENST00000355349	23/40	175	137	38	219	219	0	strelka-varscan-mutect	MYH7,missense_variant,p.Leu898Met,ENST00000355349,NM_000257.3;	T	ENST00000355349	Transcript	missense_variant	2855/6087	2692/5808	898/1935	L/M	Ctg/Atg	rs727504407	1		-1	MYH7	HGNC	HGNC:7577	protein_coding	YES	CCDS9601.1	ENSP00000347507	P12883		UPI000014019B	NM_000257.3	deleterious(0.01)		23/40		Gene3D:1.20.5.340,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF413,Superfamily_domains:SSF90257										uncertain_significance,likely_pathogenic							MODERATE	1	SNV	1		1	1										PASS		rs727504407	.												T	3	4	3	23424137	23424137	G	T	1	0	0	0	0	1	0	0	0	10039	991	35	2		2	MYH7	14	23424137	Missense_Mutation	SNP	G	11LU022_TP	790339	23424137	83619581	740	1412											
NYNRIN	0	.	GRCh38	chr14	24407949	24407949	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcactgtgccttccttggGgcccaaggcctcttcctgga	4	11	11	15	0	1	0	0	0	1	0	3	1	3	1	5	4	2	1	5	4	1	3	novel		11LU022_TP	11LU022_NB	G	G																c.279G>T	p.=	p.G93G	ENST00000382554	3/9	242	184	58	276	276	0	strelka-varscan-mutect	NYNRIN,synonymous_variant,p.=,ENST00000382554,NM_025081.2;NYNRIN,upstream_gene_variant,,ENST00000554505,;	T	ENST00000382554	Transcript	synonymous_variant	597/7857	279/5697	93/1898	G	ggG/ggT		1		1	NYNRIN	HGNC	HGNC:20165	protein_coding	YES	CCDS45090.1	ENSP00000371994	Q9P2P1		UPI0000251E63	NM_025081.2			3/9		hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	3	24407949	24407949	G	T	1	0	0	0	0	0	0	0	1	10874	1219	43	2		2	NYNRIN	14	24407949	Silent	SNP	G	11LU022_TP	983812	24407949	82635769	741	1413											
GZMH	0	.	GRCh38	chr14	24607226	24607226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaattgccatggaagagacGttcacactggcagtccttct	10	11	10	10	1	2	1	1	0	1	1	3	3	3	2	2	2	1	3	2	2	2	4	rs149372387		11LU022_TP	11LU022_NB	G	G																c.520C>A	p.Arg174Ser	p.R174S	ENST00000216338	4/5	173	135	38	174	174	0	strelka-varscan-mutect	GZMH,missense_variant,p.Arg174Ser,ENST00000216338,NM_001270780.1,NM_033423.4;GZMH,intron_variant,,ENST00000382548,NM_001270781.1;GZMH,intron_variant,,ENST00000557220,;RP11-104E19.1,intron_variant,,ENST00000557736,;RP11-104E19.1,intron_variant,,ENST00000555300,;	T	ENST00000216338	Transcript	missense_variant	565/909	520/741	174/246	R/S	Cgt/Agt	rs149372387,COSM1515288	1		-1	GZMH	HGNC	HGNC:4710	protein_coding	YES	CCDS9632.1	ENSP00000216338	P20718		UPI00000012B3	NM_001270780.1,NM_033423.4	tolerated(1)		4/5		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF15,SMART_domains:SM00020,Superfamily_domains:SSF50494											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs149372387	.												T	3	4	3	24607226	24607226	G	T	1	0	0	0	0	1	0	0	0	6799	1145	40	1		1	GZMH	14	24607226	Missense_Mutation	SNP	G	11LU022_TP	199277	24607226	82436492	742	1414											
NPAS3	0	.	GRCh38	chr14	33800626	33800626	+	Frame_Shift_Del	DEL	G	G	-																															gggggcgggggcggcggcgcGgggggcggcggccccagcgc																								novel		11LU022_TP	11LU022_NB	G	G																c.2324delG	p.Gly775AlafsTer35	p.G775Afs*35	ENST00000356141	12/12	69	55	14	86	86	0	sindel-varindel-pindel	NPAS3,frameshift_variant,p.Gly743AlafsTer35,ENST00000346562,NM_022123.2;NPAS3,frameshift_variant,p.Gly745AlafsTer35,ENST00000548645,NM_001165893.1;NPAS3,frameshift_variant,p.Gly780AlafsTer35,ENST00000551492,;NPAS3,frameshift_variant,p.Gly775AlafsTer35,ENST00000356141,NM_001164749.1;NPAS3,frameshift_variant,p.Gly762AlafsTer35,ENST00000357798,NM_173159.2;NPAS3,frameshift_variant,p.Gly749AlafsTer35,ENST00000551634,;	-	ENST00000356141	Transcript	frameshift_variant	2319/2802	2319/2802	773/933	A/X	gcG/gc		1		1	NPAS3	HGNC	HGNC:19311	protein_coding	YES	CCDS53891.1	ENSP00000348460	Q8IXF0	X5D2Q4	UPI00000743C2	NM_001164749.1			12/12		Low_complexity_(Seg):seg,hmmpanther:PTHR23043:SF30,hmmpanther:PTHR23043																	HIGH	1	deletion	1	5		1										PASS		.	.												-	7	5	3	33800626	33800626	G	-	1	0	1	0	1	0	0	0	0	10612	1103	39	0		0	NPAS3	14	33800626	Frame_Shift_Del	DEL	G	11LU022_TP	9193400	33800626	73243092	743	1415											
LRFN5	0	.	GRCh38	chr14	41887080	41887080	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcgcccttgaggagcTggatctgtcctataataatc	8	14	9	10	1	2	1	0	1	2	0	5	3	3	3	2	2	1	1	2	2	3	5	novel		11LU022_TP	11LU022_NB	T	T																c.455T>A	p.Leu152Gln	p.L152Q	ENST00000298119	3/6	175	140	35	190	190	0	strelka-varscan-mutect	LRFN5,missense_variant,p.Leu152Gln,ENST00000554171,;LRFN5,missense_variant,p.Leu152Gln,ENST00000298119,NM_152447.3;LRFN5,missense_variant,p.Leu152Gln,ENST00000554120,;	A	ENST00000298119	Transcript	missense_variant	1644/3723	455/2160	152/719	L/Q	cTg/cAg		1		1	LRFN5	HGNC	HGNC:20360	protein_coding	YES	CCDS9678.1	ENSP00000298119	Q96NI6		UPI000000DA1E	NM_152447.3	deleterious(0)		3/6		PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,Pfam_domain:PF13306,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	41887080	41887080	T	A	1	0	0	0	0	1	0	0	0	8835	1580	55	4		4	LRFN5	14	41887080	Missense_Mutation	SNP	T	11LU022_TP	8086454	41887080	65156638	744	1416											
C14orf28	0	.	GRCh38	chr14	44905498	44905498	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttgttaaataaaccccCagagtttctcctcttgtcat	11	16	4	10	0	3	1	1	0	2	1	4	1	3	1	3	0	1	2	3	0	5	6	rs769577214		11LU022_TP	11LU022_NB	C	C																c.881C>A	p.Pro294Gln	p.P294Q	ENST00000325192	5/5	112	102	10	116	116	0	strelka-varscan-mutect	C14orf28,missense_variant,p.Pro294Gln,ENST00000325192,NM_001017923.1;C14orf28,missense_variant,p.Pro264Gln,ENST00000557112,;RP11-857B24.5,intron_variant,,ENST00000555157,;C14orf28,downstream_gene_variant,,ENST00000553841,;C14orf28,non_coding_transcript_exon_variant,,ENST00000555826,;	A	ENST00000325192	Transcript	missense_variant	1156/2915	881/933	294/310	P/Q	cCa/cAa	rs769577214,COSM395546	1		1	C14orf28	HGNC	HGNC:19834	protein_coding	YES	CCDS32069.1	ENSP00000326846	Q4W4Y0		UPI000015FBE3	NM_001017923.1	deleterious_low_confidence(0)		5/5		hmmpanther:PTHR35350											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs769577214	.												A	3	1	3	44905498	44905498	C	A	1	0	0	0	0	1	0	0	0	1837	594	21	2		2	C14orf28	14	44905498	Missense_Mutation	SNP	C	11LU022_TP	3018418	44905498	62138220	745	1417											
PYGL	0	.	GRCh38	chr14	50914816	50914816	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcactgaagtccttgaatCtggagatggaggagacacat	12	9	12	8	0	2	4	1	2	1	2	3	7	3	5	1	3	0	1	1	3	2	1	rs750567664		11LU022_TP	11LU022_NB	C	C																c.1404-1G>T		p.X468_splice	ENST00000216392		417	327	90	428	428	0	strelka-varscan-mutect	PYGL,splice_acceptor_variant,,ENST00000216392,NM_002863.4;PYGL,splice_acceptor_variant,,ENST00000532462,;PYGL,splice_acceptor_variant,,ENST00000544180,NM_001163940.1;RP11-218E20.5,downstream_gene_variant,,ENST00000557343,;PYGL,downstream_gene_variant,,ENST00000553872,;PYGL,upstream_gene_variant,,ENST00000532107,;PYGL,downstream_gene_variant,,ENST00000528757,;	A	ENST00000216392	Transcript	splice_acceptor_variant	-/3048	1404/2544	468/847			rs750567664	1		-1	PYGL	HGNC	HGNC:9725	protein_coding	YES	CCDS32080.1	ENSP00000216392	P06737		UPI000011136E	NM_002863.4				11/19																		HIGH	1	SNV	1			1										PASS		rs750567664	.												A	5	1	3	50914816	50914816	C	A	1	0	0	0	0	0	0	1	0	13015	927	32	2		2	PYGL	14	50914816	Splice_Site	SNP	C	11LU022_TP	6009318	50914816	56128902	746	1418											
NID2	0	.	GRCh38	chr14	52007808	52007808	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcattccatcagtagtattAcctgcatctgcccagcagag	10	11	8	12	0	2	1	1	0	1	1	3	1	3	1	3	0	5	5	3	0	3	4	novel		11LU022_TP	11LU022_NB	A	A																c.3880+2T>C		p.X1294_splice	ENST00000216286		179	152	27	197	196	1	strelka-mutect	NID2,splice_donor_variant,,ENST00000216286,NM_007361.3;NID2,splice_donor_variant,,ENST00000617139,;NID2,splice_donor_variant,,ENST00000556572,;C14orf166,3_prime_UTR_variant,,ENST00000261700,NM_016039.2;C14orf166,downstream_gene_variant,,ENST00000556760,;C14orf166,downstream_gene_variant,,ENST00000553362,;NID2,splice_donor_variant,,ENST00000556686,;NID2,splice_donor_variant,,ENST00000555310,;NID2,downstream_gene_variant,,ENST00000553297,;C14orf166,downstream_gene_variant,,ENST00000553479,;	G	ENST00000216286	Transcript	splice_donor_variant	-/4811	3880/4128	1294/1375				1		-1	NID2	HGNC	HGNC:13389	protein_coding	YES	CCDS9706.1	ENSP00000216286	Q14112		UPI000013C6E1	NM_007361.3				19/21																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	3	52007808	52007808	A	G	1	0	0	0	0	0	0	1	0	10448	405	14	5		5	NID2	14	52007808	Splice_Site	SNP	A	11LU022_TP	1092992	52007808	55035910	747	1419											
ATG14	0	.	GRCh38	chr14	55386096	55386096	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgagaaggccttcagaaTctaaaataaataaatcacac	18	11	5	7	0	3	2	2	1	1	2	3	3	3	2	1	1	0	0	1	1	8	6	novel		11LU022_TP	11LU022_NB	T	T																c.410A>G	p.Asn137Ser	p.N137S	ENST00000247178	5/10	57	46	11	68	68	0	strelka-varscan-mutect	ATG14,missense_variant,p.Asn137Ser,ENST00000247178,NM_014924.4;ATG14,splice_region_variant,,ENST00000558189,;	C	ENST00000247178	Transcript	missense_variant,splice_region_variant	446/4742	410/1479	137/492	N/S	aAt/aGt		1		-1	ATG14	HGNC	HGNC:19962	protein_coding	YES	CCDS32087.1	ENSP00000247178	Q6ZNE5		UPI00001FD5B2	NM_014924.4	tolerated(0.42)		5/10		Pfam_domain:PF10186,hmmpanther:PTHR13664,hmmpanther:PTHR13664:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	55386096	55386096	T	C	1	0	0	0	0	1	0	0	0	1242	1449	50	5		5	ATG14	14	55386096	Missense_Mutation	SNP	T	11LU022_TP	3378288	55386096	51657622	748	1420											
KTN1	0	.	GRCh38	chr14	55670792	55670792	+	Missense_Mutation	SNP	G	G	T																															aatgtatggctggaacttcaGggtcagaggaggttaaggtt																								novel		11LU022_TP	11LU022_NB	G	G																c.3331G>T	p.Gly1111Trp	p.G1111W	ENST00000395314	35/44	121	105	16	117	117	0	strelka-varscan-mutect	KTN1,missense_variant,p.Gly1111Trp,ENST00000395314,NM_001271014.1,NM_001079521.1;KTN1,missense_variant,p.Gly1088Trp,ENST00000395311,NM_001079522.1;KTN1,missense_variant,p.Gly1088Trp,ENST00000413890,;KTN1,missense_variant,p.Gly1082Trp,ENST00000438792,NM_004986.3;KTN1,missense_variant,p.Gly1088Trp,ENST00000395308,;KTN1,missense_variant,p.Gly1088Trp,ENST00000395309,;KTN1,missense_variant,p.Gly377Trp,ENST00000554507,;KTN1,missense_variant,p.Gly116Trp,ENST00000555573,;KTN1,missense_variant,p.Gly72Trp,ENST00000553624,;KTN1,upstream_gene_variant,,ENST00000554294,;KTN1,missense_variant,p.Gly1111Trp,ENST00000459737,;KTN1,non_coding_transcript_exon_variant,,ENST00000334975,;KTN1,non_coding_transcript_exon_variant,,ENST00000555172,;KTN1,upstream_gene_variant,,ENST00000554831,;KTN1,upstream_gene_variant,,ENST00000556631,;KTN1,upstream_gene_variant,,ENST00000555506,;	T	ENST00000395314	Transcript	missense_variant	3399/4618	3331/4074	1111/1357	G/W	Ggg/Tgg		1		1	KTN1	HGNC	HGNC:6467	protein_coding	YES	CCDS41957.1	ENSP00000378725	Q86UP2	A0A024R663	UPI0000190F88	NM_001271014.1,NM_001079521.1	deleterious(0.01)		35/44		hmmpanther:PTHR18864																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	55670792	55670792	G	T	1	0	0	0	0	1	0	0	0	8483	1000	35	2		2	KTN1	14	55670792	Missense_Mutation	SNP	G	11LU022_TP	284696	55670792	51372926	749	1421	36	2									
KTN1	0	.	GRCh38	chr14	55670793	55670793	+	Missense_Mutation	SNP	G	G	T																															atgtatggctggaacttcagGgtcagaggaggttaaggtta																								novel		11LU022_TP	11LU022_NB	G	G																c.3332G>T	p.Gly1111Val	p.G1111V	ENST00000395314	35/44	119	103	16	117	116	1	strelka-varscan-mutect	KTN1,missense_variant,p.Gly1111Val,ENST00000395314,NM_001271014.1,NM_001079521.1;KTN1,missense_variant,p.Gly1088Val,ENST00000395311,NM_001079522.1;KTN1,missense_variant,p.Gly1088Val,ENST00000413890,;KTN1,missense_variant,p.Gly1082Val,ENST00000438792,NM_004986.3;KTN1,missense_variant,p.Gly1088Val,ENST00000395308,;KTN1,missense_variant,p.Gly1088Val,ENST00000395309,;KTN1,missense_variant,p.Gly377Val,ENST00000554507,;KTN1,missense_variant,p.Gly116Val,ENST00000555573,;KTN1,missense_variant,p.Gly72Val,ENST00000553624,;KTN1,upstream_gene_variant,,ENST00000554294,;KTN1,missense_variant,p.Gly1111Val,ENST00000459737,;KTN1,non_coding_transcript_exon_variant,,ENST00000334975,;KTN1,non_coding_transcript_exon_variant,,ENST00000555172,;KTN1,upstream_gene_variant,,ENST00000554831,;KTN1,upstream_gene_variant,,ENST00000556631,;KTN1,upstream_gene_variant,,ENST00000555506,;	T	ENST00000395314	Transcript	missense_variant	3400/4618	3332/4074	1111/1357	G/V	gGg/gTg		1		1	KTN1	HGNC	HGNC:6467	protein_coding	YES	CCDS41957.1	ENSP00000378725	Q86UP2	A0A024R663	UPI0000190F88	NM_001271014.1,NM_001079521.1	tolerated(0.06)		35/44		hmmpanther:PTHR18864																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	55670793	55670793	G	T	1	0	0	0	0	1	0	0	0	8483	1232	43	2		2	KTN1	14	55670793	Missense_Mutation	SNP	G	11LU022_TP	1	55670793	51372925	750	1422	36	2									
SGPP1	0	.	GRCh38	chr14	63686524	63686524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagtgaaagaaaagatccCcaaagctaaatgaagcccga	20	4	9	8	1	0	5	0	2	0	3	1	6	1	5	3	0	2	1	3	0	8	1	novel		11LU022_TP	11LU022_NB	C	C																c.907G>T	p.Gly303Trp	p.G303W	ENST00000247225	3/3	258	213	45	301	301	0	strelka-varscan-mutect	SGPP1,missense_variant,p.Gly303Trp,ENST00000247225,NM_030791.3;	A	ENST00000247225	Transcript	missense_variant	1002/3312	907/1326	303/441	G/W	Ggg/Tgg		1		-1	SGPP1	HGNC	HGNC:17720	protein_coding	YES	CCDS9760.1	ENSP00000247225	Q9BX95		UPI000006DEB2	NM_030791.3	deleterious(0)		3/3		hmmpanther:PTHR14969,hmmpanther:PTHR14969:SF16,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	63686524	63686524	C	A	1	0	0	0	0	1	0	0	0	14477	623	22	2		2	SGPP1	14	63686524	Missense_Mutation	SNP	C	11LU022_TP	8015731	63686524	43357194	751	1423											
SYNE2	0	.	GRCh38	chr14	64053149	64053149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgatagctctccggaaaGcagacggctcaatgcccaaa	12	7	9	13	2	2	2	1	1	1	1	4	3	3	3	3	2	3	3	3	2	4	1			11LU022_TP	11LU022_NB	G	G																c.9236G>T	p.Ser3079Ile	p.S3079I	ENST00000358025	48/116	214	162	52	258	258	0	strelka-varscan-mutect	SYNE2,missense_variant,p.Ser3079Ile,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Ser3079Ile,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Ser3112Ile,ENST00000357395,;SYNE2,missense_variant,p.Ser3112Ile,ENST00000554584,;SYNE2,downstream_gene_variant,,ENST00000557005,;	T	ENST00000358025	Transcript	missense_variant	9448/21842	9236/20724	3079/6907	S/I	aGc/aTc	COSM5687436	1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2	deleterious(0.02)		48/116		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF317											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	3	64053149	64053149	G	T	1	0	0	0	0	1	0	0	0	15838	971	34	2		2	SYNE2	14	64053149	Missense_Mutation	SNP	G	11LU022_TP	366625	64053149	42990569	752	1424											
MAP3K9	0	.	GRCh38	chr14	70734420	70734420	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgaaccctggcagggcCgggctactccttgggccctt	4	9	14	14	1	0	1	0	1	0	0	1	1	1	1	4	5	2	2	4	5	2	3	rs555483404		11LU022_TP	11LU022_NB	C	C																c.1992G>T	p.=	p.P664P	ENST00000555993	10/13	234	176	58	251	250	1	strelka-varscan-mutect	MAP3K9,synonymous_variant,p.=,ENST00000554752,NM_001284230.1;MAP3K9,synonymous_variant,p.=,ENST00000611979,NM_001284231.1;MAP3K9,synonymous_variant,p.=,ENST00000555993,NM_033141.3;MAP3K9,synonymous_variant,p.=,ENST00000381250,;MAP3K9,synonymous_variant,p.=,ENST00000553414,NM_001284232.1;MAP3K9,synonymous_variant,p.=,ENST00000554146,;	A	ENST00000555993	Transcript	synonymous_variant	2355/4449	1992/3357	664/1118	P	ccG/ccT	rs555483404	1		-1	MAP3K9	HGNC	HGNC:6861	protein_coding	YES	CCDS32112.1	ENSP00000451263	P80192		UPI00001D7B5C	NM_033141.3			10/13		hmmpanther:PTHR23257:SF401,hmmpanther:PTHR23257,PIRSF_domain:PIRSF000556																	LOW	1	SNV	1			1										PASS		rs555483404	.												A	2	1	3	70734420	70734420	C	A	1	0	0	0	0	0	0	0	1	9181	639	23	1		1	MAP3K9	14	70734420	Silent	SNP	C	11LU022_TP	6681271	70734420	36309298	753	1425											
MAP3K9	0	.	GRCh38	chr14	70742436	70742436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttcttcacccggggcttCtcctggcacagctggtggat	4	12	12	13	2	3	0	1	0	2	0	4	1	3	1	2	5	1	4	2	5	0	3	novel		11LU022_TP	11LU022_NB	C	C																c.1482G>T	p.Glu494Asp	p.E494D	ENST00000555993	6/13	271	221	50	286	285	1	strelka-varscan-mutect	MAP3K9,missense_variant,p.Glu494Asp,ENST00000554752,NM_001284230.1;MAP3K9,missense_variant,p.Glu231Asp,ENST00000611979,NM_001284231.1;MAP3K9,missense_variant,p.Glu494Asp,ENST00000555993,NM_033141.3;MAP3K9,missense_variant,p.Glu494Asp,ENST00000381250,;MAP3K9,missense_variant,p.Glu188Asp,ENST00000553414,NM_001284232.1;MAP3K9,missense_variant,p.Glu231Asp,ENST00000554146,;	A	ENST00000555993	Transcript	missense_variant	1845/4449	1482/3357	494/1118	E/D	gaG/gaT		1		-1	MAP3K9	HGNC	HGNC:6861	protein_coding	YES	CCDS32112.1	ENSP00000451263	P80192		UPI00001D7B5C	NM_033141.3	tolerated(0.18)		6/13		hmmpanther:PTHR23257:SF401,hmmpanther:PTHR23257,PIRSF_domain:PIRSF000556																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	70742436	70742436	C	A	1	0	0	0	0	1	0	0	0	9181	912	32	2		2	MAP3K9	14	70742436	Missense_Mutation	SNP	C	11LU022_TP	8016	70742436	36301282	754	1426											
ESRRB	0	.	GRCh38	chr14	76499955	76499955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcagctgccttcacaagCagggatcagagcaactcccc	12	6	8	15	0	3	1	3	0	0	1	4	2	4	2	3	1	5	3	3	1	3	1	novel		11LU022_TP	11LU022_NB	C	C																c.1389C>A	p.Ser463Arg	p.S463R	ENST00000509242	8/9	441	373	68	561	561	0	strelka-varscan-mutect	ESRRB,missense_variant,p.Ser463Arg,ENST00000509242,;ESRRB,missense_variant,p.Ser463Arg,ENST00000380887,NM_004452.3;ESRRB,missense_variant,p.Ser468Arg,ENST00000512784,;ESRRB,downstream_gene_variant,,ENST00000556177,;RP11-187O7.3,intron_variant,,ENST00000554926,;ESRRB,3_prime_UTR_variant,,ENST00000505752,;ESRRB,non_coding_transcript_exon_variant,,ENST00000611036,;	A	ENST00000509242	Transcript	missense_variant	1597/2849	1389/1527	463/508	S/R	agC/agA		1		1	ESRRB	HGNC	HGNC:3473	protein_coding	YES	CCDS9850.2	ENSP00000422488	O95718		UPI000003157B		tolerated_low_confidence(0.06)		8/9		PIRSF_domain:PIRSF002527																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	76499955	76499955	C	A	1	0	0	0	0	1	0	0	0	5123	709	25	2		2	ESRRB	14	76499955	Missense_Mutation	SNP	C	11LU022_TP	5757519	76499955	30543763	755	1427											
ISM2	0	.	GRCh38	chr14	77484438	77484438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggcgtggcattccctgggGtcagggctgctggctcagtg	4	9	18	10	1	2	0	2	0	0	0	3	1	3	0	1	6	1	4	1	6	0	1	novel		11LU022_TP	11LU022_NB	G	G																c.512C>A	p.Thr171Asn	p.T171N	ENST00000342219	3/7	69	58	11	75	75	0	strelka-varscan-mutect	ISM2,missense_variant,p.Thr171Asn,ENST00000342219,NM_199296.2;ISM2,missense_variant,p.Thr171Asn,ENST00000493585,NM_182509.3;ISM2,intron_variant,,ENST00000554801,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,3_prime_UTR_variant,,ENST00000480979,;ISM2,3_prime_UTR_variant,,ENST00000471734,;ISM2,non_coding_transcript_exon_variant,,ENST00000472744,;ISM2,upstream_gene_variant,,ENST00000487738,;	T	ENST00000342219	Transcript	missense_variant	569/2971	512/1716	171/571	T/N	aCc/aAc		1		-1	ISM2	HGNC	HGNC:23176	protein_coding	YES	CCDS9864.1	ENSP00000341490	Q6H9L7		UPI000019950C	NM_199296.2	tolerated(0.05)		3/7		hmmpanther:PTHR10239:SF28,hmmpanther:PTHR10239																	MODERATE	1	SNV	1			1										PASS		rs1271612638	.												T	3	4	3	77484438	77484438	G	T	1	0	0	0	0	1	0	0	0	7768	1261	44	2		2	ISM2	14	77484438	Missense_Mutation	SNP	G	11LU022_TP	984483	77484438	29559280	756	1428											
STON2	0	.	GRCh38	chr14	81278474	81278474	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttcatcaaagtgctcttGggacggtccctcttcttaaa	10	13	8	10	1	5	0	2	0	3	0	6	1	6	1	1	2	1	2	1	2	4	4	novel		11LU022_TP	11LU022_NB	G	G																c.837C>G	p.=	p.P279P	ENST00000555447	6/8	179	141	38	170	170	0	strelka-varscan-mutect	STON2,synonymous_variant,p.=,ENST00000555447,NM_001256430.1;STON2,synonymous_variant,p.=,ENST00000267540,NM_033104.3;STON2,synonymous_variant,p.=,ENST00000614646,;STON2,upstream_gene_variant,,ENST00000553821,;STON2,downstream_gene_variant,,ENST00000556280,;STON2,non_coding_transcript_exon_variant,,ENST00000555284,;	C	ENST00000555447	Transcript	synonymous_variant	1250/4302	837/2763	279/920	P	ccC/ccG		1		-1	STON2	HGNC	HGNC:30652	protein_coding	YES	CCDS58332.1	ENSP00000450857	Q8WXE9		UPI00001FD96B	NM_001256430.1			6/8		PIRSF_domain:PIRSF037099,Pfam_domain:PF12016																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	3	81278474	81278474	G	C	1	0	0	0	0	0	0	0	1	15696	1335	47	4		4	STON2	14	81278474	Silent	SNP	G	11LU022_TP	3794036	81278474	25765244	757	1429											
UNC79	0	.	GRCh38	chr14	93688769	93688769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggacatctcacggggcaaCcacagagataacaaagctgt	15	6	10	10	1	1	1	1	0	1	1	2	3	1	2	1	3	3	2	1	3	3	1	novel		11LU022_TP	11LU022_NB	C	C																c.6600C>A	p.Asn2200Lys	p.N2200K	ENST00000256339	45/50	209	194	15	183	183	0	strelka-varscan-mutect	UNC79,missense_variant,p.Asn2399Lys,ENST00000553484,;UNC79,missense_variant,p.Asn2338Lys,ENST00000555664,;UNC79,missense_variant,p.Asn2200Lys,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Asn2377Lys,ENST00000393151,;UNC79,missense_variant,p.Asn2200Lys,ENST00000621021,;UNC79,upstream_gene_variant,,ENST00000554549,;	A	ENST00000256339	Transcript	missense_variant	7255/8400	6600/7377	2200/2458	N/K	aaC/aaA		1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3	deleterious(0)		45/50		hmmpanther:PTHR21696:SF2,hmmpanther:PTHR21696																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	93688769	93688769	C	A	1	0	0	0	0	1	0	0	0	17520	506	18	2		2	UNC79	14	93688769	Missense_Mutation	SNP	C	11LU022_TP	12410295	93688769	13354949	758	1430											
SERPINA3	0	.	GRCh38	chr14	94619448	94619448	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccagagaccctgaagcggtgGagagactctctggagttcag	10	7	14	10	1	2	3	1	1	1	2	3	7	2	5	2	3	1	1	2	3	1	1	novel		11LU022_TP	11LU022_NB	G	G																c.897G>C	p.Trp299Cys	p.W299C	ENST00000467132	3/5	341	286	55	402	402	0	strelka-varscan-mutect	SERPINA3,missense_variant,p.Trp299Cys,ENST00000467132,;SERPINA3,missense_variant,p.Trp81Cys,ENST00000482740,;SERPINA3,missense_variant,p.Trp299Cys,ENST00000393078,NM_001085.4;SERPINA3,missense_variant,p.Trp299Cys,ENST00000393080,;SERPINA3,missense_variant,p.Trp299Cys,ENST00000555820,;SERPINA3,missense_variant,p.Trp39Cys,ENST00000621603,;SERPINA3,intron_variant,,ENST00000556388,;SERPINA3,3_prime_UTR_variant,,ENST00000553947,;SERPINA3,intron_variant,,ENST00000556968,;	C	ENST00000467132	Transcript	missense_variant	2045/2660	897/1272	299/423	W/C	tgG/tgC		1		1	SERPINA3	HGNC	HGNC:16	protein_coding	YES	CCDS32150.1	ENSP00000450540	P01011	A0A024R6P0	UPI000012509B		deleterious(0)		3/5		Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF145,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	3	94619448	94619448	G	C	1	0	0	0	0	1	0	0	0	14366	1183	41	4		4	SERPINA3	14	94619448	Missense_Mutation	SNP	G	11LU022_TP	930679	94619448	12424270	759	1431											
DICER1	0	.	GRCh38	chr14	95129491	95129491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctaagaccaccaggtCagttgcagtttcagcattac	10	11	8	12	0	3	1	2	0	1	1	3	1	3	1	3	1	3	4	3	1	2	4	novel		11LU022_TP	11LU022_NB	C	C																c.715G>T	p.Asp239Tyr	p.D239Y	ENST00000526495	8/29	225	185	40	165	165	0	strelka-varscan-mutect	DICER1,missense_variant,p.Asp239Tyr,ENST00000526495,NM_030621.4,NM_001291628.1;DICER1,missense_variant,p.Asp239Tyr,ENST00000343455,NM_177438.2;DICER1,missense_variant,p.Asp239Tyr,ENST00000393063,;DICER1,missense_variant,p.Asp239Tyr,ENST00000527414,NM_001271282.2;DICER1,missense_variant,p.Asp239Tyr,ENST00000541352,NM_001195573.1;DICER1,downstream_gene_variant,,ENST00000531162,;DICER1,downstream_gene_variant,,ENST00000529720,;DICER1,non_coding_transcript_exon_variant,,ENST00000529206,;	A	ENST00000526495	Transcript	missense_variant	1007/10331	715/5769	239/1922	D/Y	Gac/Tac		1		-1	DICER1	HGNC	HGNC:17098	protein_coding	YES	CCDS9931.1	ENSP00000437256	Q9UPY3		UPI0000168662	NM_030621.4,NM_001291628.1	deleterious(0)		8/29		hmmpanther:PTHR14950,hmmpanther:PTHR14950:SF26,SMART_domains:SM00487																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	95129491	95129491	C	A	1	0	0	0	0	1	0	0	0	4325	826	29	2		2	DICER1	14	95129491	Missense_Mutation	SNP	C	11LU022_TP	510043	95129491	11914227	760	1432											
ATG2B	0	.	GRCh38	chr14	96315520	96315520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaatagtaggttccaacCagtgtgggcgggttgagctg	11	10	14	6	1	0	1	0	1	0	0	1	1	1	1	2	3	2	4	2	3	6	5	novel		11LU022_TP	11LU022_NB	C	C																c.3425G>T	p.Trp1142Leu	p.W1142L	ENST00000359933	22/42	262	231	31	215	215	0	strelka-varscan-mutect	ATG2B,missense_variant,p.Trp1142Leu,ENST00000359933,NM_018036.5;ATG2B,upstream_gene_variant,,ENST00000261834,;ATG2B,downstream_gene_variant,,ENST00000473234,;ATG2B,downstream_gene_variant,,ENST00000488421,;	A	ENST00000359933	Transcript	missense_variant	4319/13684	3425/6237	1142/2078	W/L	tGg/tTg		1		-1	ATG2B	HGNC	HGNC:20187	protein_coding	YES	CCDS9944.2	ENSP00000353010	Q96BY7		UPI000155D51F	NM_018036.5	tolerated(0.18)		22/42		hmmpanther:PTHR13190,hmmpanther:PTHR13190:SF20																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	96315520	96315520	C	A	1	0	0	0	0	1	0	0	0	1246	595	21	2		2	ATG2B	14	96315520	Missense_Mutation	SNP	C	11LU022_TP	1186029	96315520	10728198	761	1433											
GSKIP	0	.	GRCh38	chr14	96385529	96385529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttctcttgtaggtggtaGgctatgcttttgaccaggta	7	16	11	7	0	1	1	0	1	1	0	2	1	1	1	1	4	1	5	1	4	4	8	novel		11LU022_TP	11LU022_NB	G	G																c.265G>A	p.Gly89Ser	p.G89S	ENST00000556095	4/4	101	82	19	95	95	0	strelka-varscan-mutect	GSKIP,missense_variant,p.Gly89Ser,ENST00000556095,NM_001271904.1;GSKIP,missense_variant,p.Gly89Ser,ENST00000555181,NM_016472.4,NM_001271905.1;GSKIP,missense_variant,p.Gly89Ser,ENST00000438650,NM_001271906.1;GSKIP,missense_variant,p.Gly89Ser,ENST00000554182,;GSKIP,missense_variant,p.Gly89Ser,ENST00000555757,;GSKIP,downstream_gene_variant,,ENST00000553699,;RNU2-33P,downstream_gene_variant,,ENST00000410344,;	A	ENST00000556095	Transcript	missense_variant	2077/3834	265/420	89/139	G/S	Ggc/Agc		1		1	GSKIP	HGNC	HGNC:20343	protein_coding	YES	CCDS32153.1	ENSP00000451188	Q9P0R6	A0A024R6P6	UPI0000034E26	NM_001271904.1	tolerated(0.24)		4/4		Superfamily_domains:0049393,PD080843,Pfam_domain:PF05303,hmmpanther:PTHR12490																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	3	96385529	96385529	G	A	1	0	0	0	0	1	0	0	0	6709	1000	35	3		3	GSKIP	14	96385529	Missense_Mutation	SNP	G	11LU022_TP	70009	96385529	10658189	762	1434											
SETD3	0	.	GRCh38	chr14	99410190	99410190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttaggcagaggcgacaGcaagagcgaaggaatcttct	12	7	14	8	2	3	2	0	0	3	2	3	5	3	3	0	4	2	2	0	4	4	2	novel		11LU022_TP	11LU022_NB	G	G																c.875C>A	p.Ala292Asp	p.A292D	ENST00000329331	9/9	120	111	9	108	108	0	strelka-varscan-mutect	SETD3,missense_variant,p.Ala292Asp,ENST00000329331,NM_199123.1;SETD3,3_prime_UTR_variant,,ENST00000630307,;SETD3,intron_variant,,ENST00000331768,NM_032233.2;SETD3,downstream_gene_variant,,ENST00000436070,;SETD3,intron_variant,,ENST00000446066,;SETD3,intron_variant,,ENST00000453764,;SETD3,intron_variant,,ENST00000489770,;SETD3,downstream_gene_variant,,ENST00000357563,;	T	ENST00000329331	Transcript	missense_variant	944/1330	875/891	292/296	A/D	gCt/gAt		1		-1	SETD3	HGNC	HGNC:20493	protein_coding		CCDS9952.1	ENSP00000327910	Q86TU7		UPI000000CC6C	NM_199123.1	tolerated_low_confidence(0.15)		9/9		PROSITE_profiles:PS50280																	MODERATE		SNV	1			1										PASS		rs1157085823	.												T	3	4	3	99410190	99410190	G	T	1	0	0	0	0	1	0	0	0	14410	971	34	2		2	SETD3	14	99410190	Missense_Mutation	SNP	G	11LU022_TP	3024661	99410190	7633528	763	1435											
RTL1	0	.	GRCh38	chr14	100882420	100882420	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatggtcatgacgttcttgTtcagtttcacccctttgggg	5	16	11	9	1	4	2	3	2	1	0	4	2	4	2	2	3	0	3	2	3	0	5	novel		11LU022_TP	11LU022_NB	T	T																c.2369A>G	p.Asn790Ser	p.N790S	ENST00000534062	1/1	243	225	18	279	278	1	strelka-varscan-mutect	RTL1,missense_variant,p.Asn790Ser,ENST00000534062,NM_001134888.2;MEG8,intron_variant,,ENST00000637474,;MIR431,downstream_gene_variant,,ENST00000385266,;MIR127,upstream_gene_variant,,ENST00000384876,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR433,downstream_gene_variant,,ENST00000384837,;MIR136,upstream_gene_variant,,ENST00000385207,;	C	ENST00000534062	Transcript	missense_variant	2428/4193	2369/4077	790/1358	N/S	aAc/aGc		1		-1	RTL1	HGNC	HGNC:14665	protein_coding	YES	CCDS53910.1	ENSP00000435342	A6NKG5		UPI00001D7B9E	NM_001134888.2	tolerated(0.11)		1/1		hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF9,Superfamily_domains:SSF56672																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	3	100882420	100882420	T	C	1	0	0	0	0	1	0	0	0	13984	1725	60	5		5	RTL1	14	100882420	Missense_Mutation	SNP	T	11LU022_TP	1472230	100882420	6161298	764	1436											
DIO3	0	.	GRCh38	chr14	101561776	101561776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagtgaaggcgaggaggtgCctcccgatgacccgcccatc	9	5	13	14	3	0	2	0	2	0	0	2	5	1	3	4	3	1	0	4	3	1	0	rs368850596		11LU022_TP	11LU022_NB	C	C																c.280C>T	p.Pro94Ser	p.P94S	ENST00000510508	1/1	321	220	101	329	328	1	strelka-varscan-mutect	DIO3,missense_variant,p.Pro94Ser,ENST00000510508,NM_001362.3;DIO3OS,upstream_gene_variant,,ENST00000554735,;DIO3OS,upstream_gene_variant,,ENST00000557661,;DIO3OS,upstream_gene_variant,,ENST00000555174,;DIO3OS,upstream_gene_variant,,ENST00000554441,;DIO3OS,upstream_gene_variant,,ENST00000554694,;DIO3OS,upstream_gene_variant,,ENST00000555882,;DIO3OS,upstream_gene_variant,,ENST00000557532,;DIO3OS,upstream_gene_variant,,ENST00000557109,;DIO3OS,upstream_gene_variant,,ENST00000553729,;DIO3OS,upstream_gene_variant,,ENST00000556266,;DIO3OS,upstream_gene_variant,,ENST00000408206,;	T	ENST00000510508	Transcript	missense_variant	426/2102	280/915	94/304	P/S	Cct/Tct	rs368850596	1		1	DIO3	HGNC	HGNC:2885	protein_coding	YES	CCDS41992.2	ENSP00000427336	P55073		UPI0001B1A4B2	NM_001362.3	tolerated_low_confidence(0.32)		1/1		Pfam_domain:PF00837,PIRSF_domain:PIRSF001330,PIRSF_domain:PIRSF500144,hmmpanther:PTHR11781,hmmpanther:PTHR11781:SF4																	MODERATE		SNV				1										PASS		rs368850596	.												T	3	4	3	101561776	101561776	C	T	1	0	0	0	0	1	0	0	0	4331	739	26	3		3	DIO3	14	101561776	Missense_Mutation	SNP	C	11LU022_TP	679356	101561776	5481942	765	1437											
TDRD9	0	.	GRCh38	chr14	103970545	103970545	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttttattttgtaggtacAcgaacgaacagaagaaatgg	14	13	9	5	2	0	2	0	0	0	2	0	4	0	2	0	2	3	2	0	2	7	7	novel		11LU022_TP	11LU022_NB	A	A																c.770A>G	p.His257Arg	p.H257R	ENST00000409874	6/36	127	82	45	120	120	0	strelka-varscan-mutect	TDRD9,missense_variant,p.His257Arg,ENST00000409874,NM_153046.2;TDRD9,upstream_gene_variant,,ENST00000339063,;TDRD9,upstream_gene_variant,,ENST00000557332,;TDRD9,downstream_gene_variant,,ENST00000554571,;	G	ENST00000409874	Transcript	missense_variant	818/4782	770/4149	257/1382	H/R	cAc/cGc		1		1	TDRD9	HGNC	HGNC:20122	protein_coding	YES	CCDS9987.2	ENSP00000387303	Q8NDG6		UPI0001642306	NM_153046.2	deleterious(0)		6/36		PROSITE_profiles:PS51192,hmmpanther:PTHR18934:SF113,hmmpanther:PTHR18934,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	3	103970545	103970545	A	G	1	0	0	0	0	1	0	0	0	16146	173	6	5		5	TDRD9	14	103970545	Missense_Mutation	SNP	A	11LU022_TP	2408769	103970545	3073173	766	1438											
AKT1	0	.	GRCh38	chr14	104775690	104775690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccagggacacctccatctCttcagcccctgagttgtcac	7	9	9	16	0	3	1	2	1	1	0	5	2	4	2	5	2	1	1	5	2	0	2	novel		11LU022_TP	11LU022_NB	C	C																c.397G>A	p.Glu133Lys	p.E133K	ENST00000554581	4/13	230	203	27	251	251	0	strelka-mutect	AKT1,missense_variant,p.Glu133Lys,ENST00000554581,;AKT1,missense_variant,p.Glu133Lys,ENST00000402615,;AKT1,missense_variant,p.Glu133Lys,ENST00000555528,NM_005163.2;AKT1,missense_variant,p.Glu133Lys,ENST00000349310,NM_001014432.1;AKT1,missense_variant,p.Glu133Lys,ENST00000407796,NM_001014431.1;AKT1,missense_variant,p.Glu133Lys,ENST00000554848,;AKT1,upstream_gene_variant,,ENST00000554192,;AKT1,upstream_gene_variant,,ENST00000555458,;AKT1,downstream_gene_variant,,ENST00000555926,;AKT1,non_coding_transcript_exon_variant,,ENST00000544168,;AKT1,non_coding_transcript_exon_variant,,ENST00000555380,;AKT1,non_coding_transcript_exon_variant,,ENST00000557552,;AKT1,non_coding_transcript_exon_variant,,ENST00000554826,;AKT1,upstream_gene_variant,,ENST00000610370,;AKT1,upstream_gene_variant,,ENST00000553506,;AKT1,upstream_gene_variant,,ENST00000554585,;AKT1,upstream_gene_variant,,ENST00000556836,;	T	ENST00000554581	Transcript	missense_variant	1878/3916	397/1443	133/480	E/K	Gag/Aag		1		-1	AKT1	HGNC	HGNC:391	protein_coding	YES	CCDS9994.1	ENSP00000451828	P31749	B0LPE5	UPI0000070813		tolerated(0.21)		4/13		hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF171																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	104775690	104775690	C	T	1	0	0	0	0	1	0	0	0	561	922	32	3		3	AKT1	14	104775690	Missense_Mutation	SNP	C	11LU022_TP	805145	104775690	2268028	767	1439											
CRIP2	0	.	GRCh38	chr14	105478285	105478285	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgagaaggtgagctccctGgggaaggactggcacaagtt	10	6	16	9	1	0	2	0	1	0	1	1	5	1	4	2	5	1	3	2	5	3	1	novel		11LU022_TP	11LU022_NB	G	G																c.285G>T	p.=	p.L95L	ENST00000483017	2/8	164	151	13	200	200	0	strelka-varscan-mutect	CRIP2,synonymous_variant,p.=,ENST00000329146,NM_001312.3;CRIP2,synonymous_variant,p.=,ENST00000483017,NM_001270837.1;CRIP2,intron_variant,,ENST00000538259,;CRIP2,intron_variant,,ENST00000550577,NM_001270841.1;CRIP2,non_coding_transcript_exon_variant,,ENST00000548989,;CRIP2,non_coding_transcript_exon_variant,,ENST00000548309,;CRIP2,non_coding_transcript_exon_variant,,ENST00000548923,;CRIP2,non_coding_transcript_exon_variant,,ENST00000552643,;CRIP2,non_coding_transcript_exon_variant,,ENST00000547643,;CRIP2,non_coding_transcript_exon_variant,,ENST00000551836,;CRIP2,upstream_gene_variant,,ENST00000551738,;	T	ENST00000483017	Transcript	synonymous_variant	571/1176	285/849	95/282	L	ctG/ctT		1		1	CRIP2	HGNC	HGNC:2361	protein_coding	YES	CCDS59246.1	ENSP00000426119	P52943		UPI0001914E41	NM_001270837.1			2/8		PROSITE_profiles:PS50023,hmmpanther:PTHR24208,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	3	105478285	105478285	G	T	1	0	0	0	0	0	0	0	1	3676	1335	47	2		2	CRIP2	14	105478285	Silent	SNP	G	11LU022_TP	702595	105478285	1565433	768	1440											
MAGEL2	0	.	GRCh38	chr15	23644086	23644086	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccactcacactctgcgagCgcttcaaggtaatggaatgg	10	9	10	12	2	3	0	2	0	1	0	4	2	4	1	1	3	2	2	1	3	3	2	rs140288382		11LU022_TP	11LU022_NB	C	C																c.3657G>A	p.=	p.A1219A	ENST00000532292	1/1	93	78	15	101	101	0	strelka-varscan-mutect	MAGEL2,synonymous_variant,p.=,ENST00000532292,NM_019066.4;	T	ENST00000532292	Transcript	synonymous_variant	3756/4298	3657/3750	1219/1249	A	gcG/gcA	rs140288382,COSM1147457	1		-1	MAGEL2	HGNC	HGNC:6814	protein_coding	YES	CCDS73700.1	ENSP00000433433	Q9UJ55		UPI0001B3CB28	NM_019066.4			1/1		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66											0,1						LOW	1	SNV			0,1	1										PASS		rs140288382	.												T	2	4	3	23644086	23644086	C	T	1	0	0	0	0	0	0	0	1	9107	755	27	1		1	MAGEL2	15	23644086	Silent	SNP	C	11LU022_TP		23644086	78347103	769	1441											
NPAP1	0	.	GRCh38	chr15	24676945	24676945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgctaagctcccctgcCtgtctgttgagggagaccta	7	10	10	14	0	1	2	0	1	1	1	2	3	2	2	5	1	3	3	5	1	2	3	rs866655136		11LU022_TP	11LU022_NB	C	C																c.1078C>A	p.Leu360Met	p.L360M	ENST00000329468	1/1	85	64	21	131	131	0	strelka-varscan-mutect	NPAP1,missense_variant,p.Leu360Met,ENST00000329468,NM_018958.2;	A	ENST00000329468	Transcript	missense_variant	1078/7526	1078/3471	360/1156	L/M	Ctg/Atg	rs866655136	1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2	tolerated(0.34)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15,Pfam_domain:PF15229																	MODERATE	1	SNV				1										PASS		rs866655136	.												A	3	1	3	24676945	24676945	C	A	1	0	0	0	0	1	0	0	0	10609	680	24	2		2	NPAP1	15	24676945	Missense_Mutation	SNP	C	11LU022_TP	1032859	24676945	77314244	770	1442											
UBE3A	0	.	GRCh38	chr15	25370993	25370993	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagggatgggctcttcaTcatcttcttcattgtgattt	7	17	8	9	0	7	1	4	1	3	0	7	2	7	2	0	2	0	1	0	2	0	5	novel		11LU022_TP	11LU022_NB	T	T																c.1190A>G	p.Asp397Gly	p.D397G	ENST00000397954	7/14	154	117	37	173	173	0	strelka-varscan-mutect	UBE3A,missense_variant,p.Asp374Gly,ENST00000635914,;UBE3A,missense_variant,p.Asp374Gly,ENST00000638155,;UBE3A,missense_variant,p.Asp374Gly,ENST00000438097,;UBE3A,missense_variant,p.Asp374Gly,ENST00000638011,;UBE3A,missense_variant,p.Asp394Gly,ENST00000614096,NM_130839.2;UBE3A,missense_variant,p.Asp394Gly,ENST00000637886,;UBE3A,missense_variant,p.Asp374Gly,ENST00000630424,;UBE3A,missense_variant,p.Asp374Gly,ENST00000232165,NM_130838.1;UBE3A,missense_variant,p.Asp374Gly,ENST00000625778,;UBE3A,missense_variant,p.Asp374Gly,ENST00000566215,;UBE3A,missense_variant,p.Asp374Gly,ENST00000428984,;UBE3A,missense_variant,p.Asp397Gly,ENST00000397954,NM_000462.3;UBE3A,downstream_gene_variant,,ENST00000630607,;UBE3A,downstream_gene_variant,,ENST00000629252,;UBE3A,downstream_gene_variant,,ENST00000630907,;UBE3A,downstream_gene_variant,,ENST00000628267,;UBE3A,downstream_gene_variant,,ENST00000626068,;UBE3A,downstream_gene_variant,,ENST00000628733,;UBE3A,downstream_gene_variant,,ENST00000629886,;UBE3A,downstream_gene_variant,,ENST00000628890,;SNHG14,intron_variant,,ENST00000453082,;SNHG14,intron_variant,,ENST00000554726,;UBE3A,downstream_gene_variant,,ENST00000626793,;	C	ENST00000397954	Transcript	missense_variant	1435/2873	1190/2628	397/875	D/G	gAt/gGt		1		-1	UBE3A	HGNC	HGNC:12496	protein_coding	YES	CCDS45192.1	ENSP00000381045	Q05086		UPI0000161F3B	NM_000462.3	tolerated(0.06)		7/14		Low_complexity_(Seg):seg,hmmpanther:PTHR11254,PIRSF_domain:PIRSF037201																	MODERATE	1	SNV	5			1										PASS		rs1452945833	.												C	3	2	3	25370993	25370993	T	C	1	0	0	0	0	1	0	0	0	17402	1435	50	5		5	UBE3A	15	25370993	Missense_Mutation	SNP	T	11LU022_TP	694048	25370993	76620196	771	1443											
GABRG3	0	.	GRCh38	chr15	27527497	27527497	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtccttgccacgcgtGtcctacgtgaccgccatgga	8	8	12	13	4	0	1	0	1	0	0	2	3	2	3	5	2	2	0	5	2	2	2			11LU022_TP	11LU022_NB	G	G																c.930G>A	p.=	p.V310V	ENST00000615808	8/10	142	112	30	188	188	0	strelka-varscan-mutect	GABRG3,synonymous_variant,p.=,ENST00000615808,NM_033223.4;GABRG3,synonymous_variant,p.=,ENST00000333743,;GABRG3,synonymous_variant,p.=,ENST00000554696,;GABRG3,synonymous_variant,p.=,ENST00000451330,;RP11-100M12.3,intron_variant,,ENST00000556642,;	A	ENST00000615808	Transcript	synonymous_variant	1184/10768	930/1404	310/467	V	gtG/gtA	COSM5664415	1		1	GABRG3	HGNC	HGNC:4088	protein_coding	YES	CCDS45195.1	ENSP00000479113	Q99928		UPI000012AFCB	NM_033223.4			8/10		Gene3D:1.20.58.390,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF195,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	3	27527497	27527497	G	A	1	0	0	0	0	0	0	0	1	6044	1364	48	3		3	GABRG3	15	27527497	Silent	SNP	G	11LU022_TP	2156504	27527497	74463692	772	1444											
TRPM1	0	.	GRCh38	chr15	31060593	31060593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcgtgctatgtccacgCggttccaagccagtgccaag	7	9	12	13	3	0	0	0	0	0	0	3	0	2	0	4	2	3	3	4	2	3	3	rs767403814		11LU022_TP	11LU022_NB	C	C																c.1265G>T	p.Arg422Leu	p.R422L	ENST00000542188	10/27	406	294	112	539	539	0	strelka-varscan-mutect	TRPM1,missense_variant,p.Arg422Leu,ENST00000542188,NM_001252020.1;TRPM1,missense_variant,p.Arg383Leu,ENST00000397795,NM_002420.5;TRPM1,missense_variant,p.Arg405Leu,ENST00000256552,NM_001252024.1;TRPM1,missense_variant,p.Arg306Leu,ENST00000558768,;TRPM1,missense_variant,p.Arg383Leu,ENST00000558445,;TRPM1,intron_variant,,ENST00000559177,;MIR211,downstream_gene_variant,,ENST00000384969,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;TRPM1,3_prime_UTR_variant,,ENST00000560658,;TRPM1,non_coding_transcript_exon_variant,,ENST00000558070,;	A	ENST00000542188	Transcript	missense_variant	1579/6004	1265/4929	422/1642	R/L	cGc/cTc	rs767403814	1		-1	TRPM1	HGNC	HGNC:7146	protein_coding	YES	CCDS58347.1	ENSP00000437849	Q7Z4N2		UPI0001DBB3A9	NM_001252020.1	deleterious(0)		10/27		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13																	MODERATE	1	SNV	1			1										PASS		rs767403814	.												A	3	1	3	31060593	31060593	C	A	1	0	0	0	0	1	0	0	0	17091	768	27	1		1	TRPM1	15	31060593	Missense_Mutation	SNP	C	11LU022_TP	3533096	31060593	70930596	773	1445											
UBR1	0	.	GRCh38	chr15	42970577	42970577	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcggaatgagcctcttcaCtgtcttcttgaacctgagca	9	12	9	11	1	4	3	1	3	3	0	4	4	4	4	2	1	4	1	2	1	2	3	novel		11LU022_TP	11LU022_NB	C	C																c.4400G>T	p.Ser1467Ile	p.S1467I	ENST00000290650	40/47	271	197	74	325	325	0	strelka-varscan-mutect	UBR1,missense_variant,p.Ser1467Ile,ENST00000290650,NM_174916.2;	A	ENST00000290650	Transcript	missense_variant	4479/7761	4400/5250	1467/1749	S/I	aGt/aTt		1		-1	UBR1	HGNC	HGNC:16808	protein_coding	YES	CCDS10091.1	ENSP00000290650	Q8IWV7		UPI0000074467	NM_174916.2	tolerated(0.16)		40/47		Low_complexity_(Seg):seg,hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF27																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	42970577	42970577	C	A	1	0	0	0	0	1	0	0	0	17425	565	20	2		2	UBR1	15	42970577	Missense_Mutation	SNP	C	11LU022_TP	11909984	42970577	59020612	774	1446											
EPB42	0	.	GRCh38	chr15	43215308	43215308	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtggcttgggtcctgtTgatcttggaaggctgctctc	5	14	14	8	0	2	1	0	1	2	0	4	3	3	2	1	4	1	4	1	4	2	3	novel		11LU022_TP	11LU022_NB	T	T																c.307A>C	p.Asn103His	p.N103H	ENST00000300215	3/13	232	168	64	339	338	1	strelka-varscan-mutect	EPB42,missense_variant,p.Asn103His,ENST00000300215,NM_000119.2;EPB42,missense_variant,p.Asn73His,ENST00000441366,NM_001114134.1;EPB42,missense_variant,p.Asn73His,ENST00000622454,;EPB42,missense_variant,p.Asn26His,ENST00000568508,;EPB42,intron_variant,,ENST00000540029,;EPB42,upstream_gene_variant,,ENST00000569204,;	G	ENST00000300215	Transcript	missense_variant	765/4553	307/2166	103/721	N/H	Aac/Cac		1		-1	EPB42	HGNC	HGNC:3381	protein_coding	YES	CCDS10093.1	ENSP00000300215	P16452		UPI000013E639	NM_000119.2	deleterious(0.01)		3/13		hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF44,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000459,Pfam_domain:PF00868,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	43215308	43215308	T	G	1	0	0	0	0	1	0	0	0	5005	1812	63	5		5	EPB42	15	43215308	Missense_Mutation	SNP	T	11LU022_TP	244731	43215308	58775881	775	1447											
TGM7	0	.	GRCh38	chr15	43279794	43279794	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagcagctgcaggtcctgGccccactcgggtatcctggc	6	7	13	15	1	0	0	0	0	0	0	3	0	2	0	4	4	4	5	4	4	1	1	novel		11LU022_TP	11LU022_NB	G	G																c.1509C>A	p.=	p.G503G	ENST00000452443	10/13	281	198	83	292	291	1	strelka-varscan-mutect	TGM7,synonymous_variant,p.=,ENST00000452443,NM_052955.2;TGM7,upstream_gene_variant,,ENST00000562372,;	T	ENST00000452443	Transcript	synonymous_variant	1514/2313	1509/2133	503/710	G	ggC/ggA		1		-1	TGM7	HGNC	HGNC:30790	protein_coding	YES	CCDS32213.1	ENSP00000389466	Q96PF1		UPI0000049F68	NM_052955.2			10/13		hmmpanther:PTHR11590:SF41,hmmpanther:PTHR11590,PIRSF_domain:PIRSF000459,Gene3D:2.60.40.10,Superfamily_domains:SSF49309																	LOW	1	SNV	1			1										PASS		rs1397260275	.												T	2	4	3	43279794	43279794	G	T	1	0	0	0	0	0	0	0	1	16268	1190	42	2		2	TGM7	15	43279794	Silent	SNP	G	11LU022_TP	64486	43279794	58711395	776	1448											
HYPK	0	.	GRCh38	chr15	43801748	43801748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcgagcagcagcagaacGcagtttgcgggaacacatgg	12	6	13	10	3	1	1	0	0	1	1	2	3	1	2	0	2	6	5	0	2	2	1	novel		11LU022_TP	11LU022_NB	G	G																c.332G>A	p.Arg111His	p.R111H	ENST00000406925	5/5	207	181	26	279	278	1	strelka-varscan-mutect	HYPK,missense_variant,p.Arg111His,ENST00000406925,;HYPK,missense_variant,p.Arg111His,ENST00000442995,NM_016400.3;HYPK,3_prime_UTR_variant,,ENST00000458412,;SERINC4,upstream_gene_variant,,ENST00000319327,NM_001258031.1,NM_001258032.1;SERINC4,upstream_gene_variant,,ENST00000299969,;MFAP1,downstream_gene_variant,,ENST00000267812,NM_005926.2;SERF2,downstream_gene_variant,,ENST00000630046,;SERF2,downstream_gene_variant,,ENST00000409291,;SERF2,downstream_gene_variant,,ENST00000409646,;SERF2,downstream_gene_variant,,ENST00000430901,;HYPK,non_coding_transcript_exon_variant,,ENST00000497142,;HYPK,downstream_gene_variant,,ENST00000498605,;SERF2,3_prime_UTR_variant,,ENST00000448830,;SERF2,3_prime_UTR_variant,,ENST00000409617,;SERINC4,upstream_gene_variant,,ENST00000457418,;RP11-296A16.1,upstream_gene_variant,,ENST00000417761,;SERINC4,upstream_gene_variant,,ENST00000448553,;SERINC4,upstream_gene_variant,,ENST00000412697,;SERINC4,upstream_gene_variant,,ENST00000476490,;MFAP1,downstream_gene_variant,,ENST00000484386,;	A	ENST00000406925	Transcript	missense_variant	4443/4777	332/390	111/129	R/H	cGc/cAc		1		1	HYPK	HGNC	HGNC:18418	protein_coding	YES	CCDS10104.1	ENSP00000384474	Q9NX55	A0A024R5Q1	UPI000000D937		deleterious(0.01)		5/5		hmmpanther:PTHR31184:SF2,hmmpanther:PTHR31184,Gene3D:1.10.8.10																	MODERATE		SNV	2			1										PASS		rs1440063953	.												A	3	1	3	43801748	43801748	G	A	1	0	0	0	0	1	0	0	0	7368	1087	38	1		1	HYPK	15	43801748	Missense_Mutation	SNP	G	11LU022_TP	521954	43801748	58189441	777	1449											
CEP152	0	.	GRCh38	chr15	48760219	48760219	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatactctgccagctctggTagttctcccagccatcgctg	6	12	9	14	1	3	1	0	1	3	0	5	1	3	1	3	1	4	4	3	1	2	3	rs774120199		11LU022_TP	11LU022_NB	T	T																c.2610A>G	p.=	p.L870L	ENST00000380950	19/27	318	243	75	442	442	0	strelka-varscan-mutect	CEP152,synonymous_variant,p.=,ENST00000380950,NM_001194998.1;CEP152,synonymous_variant,p.=,ENST00000399334,NM_014985.3;CEP152,synonymous_variant,p.=,ENST00000325747,;	C	ENST00000380950	Transcript	synonymous_variant	2798/5635	2610/5133	870/1710	L	ctA/ctG	rs774120199	1		-1	CEP152	HGNC	HGNC:29298	protein_coding	YES	CCDS58361.1	ENSP00000370337	O94986		UPI00002378C4	NM_001194998.1			19/27		hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF6																	LOW	1	SNV	1			1										PASS		rs774120199	.												C	2	2	3	48760219	48760219	T	C	1	0	0	0	0	0	0	0	1	2961	1625	57	5		5	CEP152	15	48760219	Silent	SNP	T	11LU022_TP	4958471	48760219	53230970	778	1450											
MYO1E	0	.	GRCh38	chr15	59214307	59214307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatacaaaactgttcaaagCcatttttctggaaaaaaaaa	19	11	5	6	0	2	1	1	1	1	0	2	2	2	2	1	1	3	1	1	1	8	4	novel		11LU022_TP	11LU022_NB	C	C																c.1196G>T	p.Gly399Val	p.G399V	ENST00000288235	12/28	93	78	15	162	162	0	strelka-mutect	MYO1E,missense_variant,p.Gly399Val,ENST00000288235,NM_004998.3;MYO1E,missense_variant,p.Gly119Val,ENST00000559489,;MYO1E,intron_variant,,ENST00000559269,;RNU4-80P,upstream_gene_variant,,ENST00000363200,;	A	ENST00000288235	Transcript	missense_variant	1596/8673	1196/3327	399/1108	G/V	gGc/gTc		1		-1	MYO1E	HGNC	HGNC:7599	protein_coding	YES	CCDS32254.1	ENSP00000288235	Q12965	Q4KMR3	UPI00001FE590	NM_004998.3	deleterious(0)		12/28		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF288,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	59214307	59214307	C	A	1	0	0	0	0	1	0	0	0	10073	739	26	2		2	MYO1E	15	59214307	Missense_Mutation	SNP	C	11LU022_TP	10454088	59214307	42776882	779	1451											
IL16	0	.	GRCh38	chr15	81282667	81282667	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcctgggcatcggcctGtgcagcgttccctacttcca	4	10	13	14	2	0	0	0	0	0	0	3	0	2	0	4	3	3	3	4	3	1	3	novel		11LU022_TP	11LU022_NB	G	G																c.1110G>T	p.=	p.L370L	ENST00000302987	8/18	185	136	49	240	240	0	strelka-varscan-mutect	IL16,synonymous_variant,p.=,ENST00000394660,NM_001172128.1;IL16,synonymous_variant,p.=,ENST00000302987,NM_172217.3;IL16,synonymous_variant,p.=,ENST00000559383,;IL16,synonymous_variant,p.=,ENST00000360547,;IL16,synonymous_variant,p.=,ENST00000560115,;IL16,synonymous_variant,p.=,ENST00000560241,;	T	ENST00000302987	Transcript	synonymous_variant	1110/3999	1110/3999	370/1332	L	ctG/ctT		1		1	IL16	HGNC	HGNC:5980	protein_coding	YES	CCDS42069.1	ENSP00000302935	Q14005		UPI0000229CE7	NM_172217.3			8/18		PROSITE_profiles:PS50106,hmmpanther:PTHR11324:SF2,hmmpanther:PTHR11324,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	LOW	1	SNV	1			1										PASS		rs1216124210	.												T	2	4	3	81282667	81282667	G	T	1	0	0	0	0	0	0	0	1	7541	1364	48	2		2	IL16	15	81282667	Silent	SNP	G	11LU022_TP	22068360	81282667	20708522	780	1452											
RPS17	0	.	GRCh38	chr15	82540029	82540029	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggataatggcgatctccTcgcacacgcgcttgttcgtg	6	11	13	11	5	1	0	0	0	1	0	4	2	1	1	1	3	0	3	1	3	1	3	novel		11LU022_TP	11LU022_NB	T	T																c.107A>T	p.Glu36Val	p.E36V	ENST00000330244	2/5	892	689	203	1146	1145	1	strelka-varscan-mutect	RPS17,missense_variant,p.Glu36Val,ENST00000561157,;RPS17,missense_variant,p.Glu36Val,ENST00000330244,NM_001021.4;CPEB1,downstream_gene_variant,,ENST00000614918,;CPEB1,downstream_gene_variant,,ENST00000611031,;CPEB1,downstream_gene_variant,,ENST00000617958,;CPEB1,downstream_gene_variant,,ENST00000618449,NM_001079533.1;CPEB1,downstream_gene_variant,,ENST00000620182,NM_001288819.1;CPEB1,downstream_gene_variant,,ENST00000617522,;CPEB1,downstream_gene_variant,,ENST00000615198,NM_030594.4;CPEB1,downstream_gene_variant,,ENST00000617462,NM_001079535.1;CPEB1,downstream_gene_variant,,ENST00000616959,;CPEB1,downstream_gene_variant,,ENST00000611163,NM_001079534.1,NM_001288820.1;RP11-152F13.10,downstream_gene_variant,,ENST00000562833,;RP11-379H8.1,upstream_gene_variant,,ENST00000621893,;RPS17,missense_variant,p.Glu36Val,ENST00000558397,;RPS17,missense_variant,p.Glu35Val,ENST00000561068,;RPS17,non_coding_transcript_exon_variant,,ENST00000561440,;RPS17,non_coding_transcript_exon_variant,,ENST00000560612,;RPS17,non_coding_transcript_exon_variant,,ENST00000560639,;RPS17,non_coding_transcript_exon_variant,,ENST00000560229,;RPS17,non_coding_transcript_exon_variant,,ENST00000559776,;RPS17,non_coding_transcript_exon_variant,,ENST00000559273,;CPEB1,downstream_gene_variant,,ENST00000618698,;CPEB1,downstream_gene_variant,,ENST00000614977,;	A	ENST00000330244	Transcript	missense_variant	243/592	107/408	36/135	E/V	gAg/gTg		1		-1	RPS17	HGNC	HGNC:10397	protein_coding	YES	CCDS10320.1	ENSP00000346046	P08708		UPI0000167B0C	NM_001021.4	deleterious(0.02)		2/5		HAMAP:MF_00511,hmmpanther:PTHR10732,Gene3D:1rq6A00,Pfam_domain:PF00833,Superfamily_domains:0049231																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	82540029	82540029	T	A	1	0	0	0	0	1	0	0	0	13882	1551	54	4		4	RPS17	15	82540029	Missense_Mutation	SNP	T	11LU022_TP	1257362	82540029	19451160	781	1453											
AP3B2	0	.	GRCh38	chr15	82663165	82663165	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctgtgagtgtcaggccctCcaggtcagcagccagactgg	7	8	14	12	0	3	2	2	1	1	1	4	2	4	2	3	3	2	1	3	3	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.2566G>T	p.Glu856Ter	p.E856*	ENST00000535359	22/27	336	267	69	455	455	0	strelka-varscan-mutect	AP3B2,stop_gained,p.Glu837Ter,ENST00000261722,;AP3B2,stop_gained,p.Glu837Ter,ENST00000620652,NM_004644.4;AP3B2,stop_gained,p.Glu856Ter,ENST00000535359,NM_001278512.1;AP3B2,stop_gained,p.Glu805Ter,ENST00000535348,NM_001278511.1;CPEB1-AS1,intron_variant,,ENST00000560650,;AP3B2,3_prime_UTR_variant,,ENST00000538592,;AP3B2,non_coding_transcript_exon_variant,,ENST00000543938,;AP3B2,non_coding_transcript_exon_variant,,ENST00000545315,;AP3B2,upstream_gene_variant,,ENST00000537735,;	A	ENST00000535359	Transcript	stop_gained	2639/3402	2566/3306	856/1101	E/*	Gag/Tag		1		-1	AP3B2	HGNC	HGNC:567	protein_coding	YES	CCDS61737.1	ENSP00000440984	Q13367		UPI0001917049	NM_001278512.1			22/27		Pfam_domain:PF14796,PIRSF_domain:PIRSF037096,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF11,SMART_domains:SM01355																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	3	82663165	82663165	C	A	1	0	0	0	0	0	1	0	0	861	864	30	2		2	AP3B2	15	82663165	Nonsense_Mutation	SNP	C	11LU022_TP	123136	82663165	19328024	782	1454											
AP3B2	0	.	GRCh38	chr15	82663180	82663180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccctccaggtcagcagccaGactggtagacacaattgctg	10	7	11	13	0	1	2	1	0	0	2	2	2	2	2	3	2	3	3	3	2	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.2551C>G	p.Leu851Val	p.L851V	ENST00000535359	22/27	358	287	71	465	465	0	strelka-varscan-mutect	AP3B2,missense_variant,p.Leu832Val,ENST00000261722,;AP3B2,missense_variant,p.Leu832Val,ENST00000620652,NM_004644.4;AP3B2,missense_variant,p.Leu851Val,ENST00000535359,NM_001278512.1;AP3B2,missense_variant,p.Leu800Val,ENST00000535348,NM_001278511.1;CPEB1-AS1,intron_variant,,ENST00000560650,;AP3B2,3_prime_UTR_variant,,ENST00000538592,;AP3B2,non_coding_transcript_exon_variant,,ENST00000543938,;AP3B2,non_coding_transcript_exon_variant,,ENST00000545315,;AP3B2,upstream_gene_variant,,ENST00000537735,;	C	ENST00000535359	Transcript	missense_variant	2624/3402	2551/3306	851/1101	L/V	Ctg/Gtg		1		-1	AP3B2	HGNC	HGNC:567	protein_coding	YES	CCDS61737.1	ENSP00000440984	Q13367		UPI0001917049	NM_001278512.1	tolerated(0.09)		22/27		Pfam_domain:PF14796,PIRSF_domain:PIRSF037096,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF11,SMART_domains:SM01355																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	82663180	82663180	G	C	1	0	0	0	0	1	0	0	0	861	933	33	4		4	AP3B2	15	82663180	Missense_Mutation	SNP	G	11LU022_TP	15	82663180	19328009	783	1455											
BNC1	0	.	GRCh38	chr15	83257595	83257595	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcacagttttgtagtgggcCctaaaggtccctttgttact	7	15	10	9	0	0	0	0	0	0	0	1	0	1	0	2	2	2	4	2	2	4	6	novel		11LU022_TP	11LU022_NB	C	C																c.2832G>T	p.Arg944Ser	p.R944S	ENST00000345382	5/5	313	282	31	351	350	1	strelka-varscan-mutect	BNC1,missense_variant,p.Arg944Ser,ENST00000345382,NM_001717.3;BNC1,missense_variant,p.Arg937Ser,ENST00000569704,NM_001301206.1;RP11-382A20.4,intron_variant,,ENST00000565495,;	A	ENST00000345382	Transcript	missense_variant	2918/4610	2832/2985	944/994	R/S	agG/agT		1		-1	BNC1	HGNC	HGNC:1081	protein_coding	YES	CCDS10324.1	ENSP00000307041	Q01954		UPI0000126796	NM_001717.3	deleterious(0)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1,PROSITE_patterns:PS00028,Pfam_domain:PF12874,SMART_domains:SM00355																	MODERATE	1	SNV	1			1										PASS		rs1375578583	.												A	3	1	3	83257595	83257595	C	A	1	0	0	0	0	1	0	0	0	1630	622	22	2		2	BNC1	15	83257595	Missense_Mutation	SNP	C	11LU022_TP	594415	83257595	18733594	784	1456											
BNC1	0	.	GRCh38	chr15	83268142	83268142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aataaagttaccgtgggccaCccatccatgcttgcattggt	10	11	9	11	1	0	0	0	0	0	0	1	0	1	0	4	2	3	3	4	2	4	4	novel		11LU022_TP	11LU022_NB	C	C																c.190G>T	p.Val64Leu	p.V64L	ENST00000345382	2/5	177	139	38	192	191	1	strelka-varscan-mutect	BNC1,missense_variant,p.Val64Leu,ENST00000345382,NM_001717.3;BNC1,missense_variant,p.Val57Leu,ENST00000569704,NM_001301206.1;RP11-382A20.4,intron_variant,,ENST00000565495,;	A	ENST00000345382	Transcript	missense_variant	276/4610	190/2985	64/994	V/L	Gtg/Ttg		1		-1	BNC1	HGNC	HGNC:1081	protein_coding	YES	CCDS10324.1	ENSP00000307041	Q01954		UPI0000126796	NM_001717.3	deleterious(0)		2/5		hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	83268142	83268142	C	A	1	0	0	0	0	1	0	0	0	1630	507	18	2		2	BNC1	15	83268142	Missense_Mutation	SNP	C	11LU022_TP	10547	83268142	18723047	785	1457											
ZNF592	0	.	GRCh38	chr15	84799210	84799210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagaagttctacacctgcgGgtgagtccctggggatagta	11	9	13	8	1	1	2	0	1	1	1	2	3	2	3	2	3	2	2	2	3	5	4	novel		11LU022_TP	11LU022_NB	G	G																c.3137G>T	p.Gly1046Val	p.G1046V	ENST00000560079	9/11	456	395	61	568	567	1	strelka-varscan-mutect	ZNF592,missense_variant,p.Gly1046Val,ENST00000560079,NM_014630.2;ZNF592,missense_variant,p.Gly1046Val,ENST00000299927,;ZNF592,upstream_gene_variant,,ENST00000618477,;ZNF592,splice_region_variant,,ENST00000559607,;	T	ENST00000560079	Transcript	missense_variant,splice_region_variant	3425/8131	3137/3804	1046/1267	G/V	gGg/gTg		1		1	ZNF592	HGNC	HGNC:28986	protein_coding	YES	CCDS32317.1	ENSP00000452877	Q92610		UPI000013E5FC	NM_014630.2	tolerated(0.26)		9/11		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF209,SMART_domains:SM00355																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	84799210	84799210	G	T	1	0	0	0	0	1	0	0	0	18597	1246	43	2		2	ZNF592	15	84799210	Missense_Mutation	SNP	G	11LU022_TP	1531068	84799210	17191979	786	1458											
NTRK3	0	.	GRCh38	chr15	87880333	87880333	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagatctcccagaggatcacCccgaagctccatacatcact	13	7	6	15	1	3	2	2	0	1	2	5	4	4	3	4	1	2	1	4	1	3	1	novel		11LU022_TP	11LU022_NB	C	C																c.2271G>T	p.=	p.G757G	ENST00000360948	19/20	392	359	33	430	430	0	strelka-varscan-mutect	NTRK3,synonymous_variant,p.=,ENST00000394480,NM_002530.3;NTRK3,synonymous_variant,p.=,ENST00000360948,NM_001012338.2;NTRK3,synonymous_variant,p.=,ENST00000357724,;NTRK3,synonymous_variant,p.=,ENST00000355254,NM_001243101.1;NTRK3,synonymous_variant,p.=,ENST00000626019,;NTRK3,synonymous_variant,p.=,ENST00000629765,;NTRK3,synonymous_variant,p.=,ENST00000557856,;	A	ENST00000360948	Transcript	synonymous_variant	2577/3004	2271/2520	757/839	G	ggG/ggT		1		-1	NTRK3	HGNC	HGNC:8033	protein_coding	YES	CCDS32322.1	ENSP00000354207	Q16288	X5D2R1	UPI000006DC82	NM_001012338.2			19/20		Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF66,SMART_domains:SM00219,Superfamily_domains:SSF56112																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	3	87880333	87880333	C	A	1	0	0	0	0	0	0	0	1	10774	610	22	2		2	NTRK3	15	87880333	Silent	SNP	C	11LU022_TP	3081123	87880333	14110856	787	1459											
ACAN	0	.	GRCh38	chr15	88840024	88840024	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcaggcatcgtgttccAttacagagccatctctacac	9	12	7	13	1	2	1	0	0	2	1	5	1	3	1	2	1	4	3	2	1	2	4	novel		11LU022_TP	11LU022_NB	A	A																c.467A>T	p.His156Leu	p.H156L	ENST00000439576	4/18	125	100	25	162	162	0	strelka-varscan-mutect	ACAN,missense_variant,p.His156Leu,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.His156Leu,ENST00000617301,;ACAN,missense_variant,p.His156Leu,ENST00000559004,;ACAN,missense_variant,p.His156Leu,ENST00000561243,;ACAN,missense_variant,p.His156Leu,ENST00000352105,NM_001135.3;ACAN,missense_variant,p.His156Leu,ENST00000558207,;	T	ENST00000439576	Transcript	missense_variant	841/8840	467/7593	156/2530	H/L	cAt/cTt		1		1	ACAN	HGNC	HGNC:319	protein_coding	YES	CCDS53970.1	ENSP00000387356		E7EX88	UPI0001B23381	NM_013227.3	deleterious(0)		4/18		PROSITE_profiles:PS50963,hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	88840024	88840024	A	T	1	0	0	0	0	1	0	0	0	160	217	8	4		4	ACAN	15	88840024	Missense_Mutation	SNP	A	11LU022_TP	959691	88840024	13151165	788	1460											
ACAN	0	.	GRCh38	chr15	88872063	88872063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccatcgaaggggacttccGctggtcagatggacacccca	10	6	12	13	2	1	1	1	0	0	1	3	5	2	3	4	4	0	1	4	4	1	1	rs368833137		11LU022_TP	11LU022_NB	G	G																c.7166G>T	p.Arg2389Leu	p.R2389L	ENST00000439576	15/18	141	113	28	197	197	0	strelka-varscan-mutect	ACAN,missense_variant,p.Arg2389Leu,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Arg2332Leu,ENST00000617301,;ACAN,missense_variant,p.Arg2351Leu,ENST00000559004,;ACAN,missense_variant,p.Arg2389Leu,ENST00000561243,;ACAN,missense_variant,p.Arg2351Leu,ENST00000352105,NM_001135.3;ACAN,upstream_gene_variant,,ENST00000558704,;ACAN,downstream_gene_variant,,ENST00000560601,;ACAN,upstream_gene_variant,,ENST00000558604,;	T	ENST00000439576	Transcript	missense_variant	7540/8840	7166/7593	2389/2530	R/L	cGc/cTc	rs368833137	1		1	ACAN	HGNC	HGNC:319	protein_coding	YES	CCDS53970.1	ENSP00000387356		E7EX88	UPI0001B23381	NM_013227.3	deleterious(0)		15/18		PROSITE_profiles:PS50041,hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	5			1										PASS		rs368833137	.												T	3	4	3	88872063	88872063	G	T	1	0	0	0	0	1	0	0	0	160	1087	38	1		1	ACAN	15	88872063	Missense_Mutation	SNP	G	11LU022_TP	32039	88872063	13119126	789	1461											
TICRR	0	.	GRCh38	chr15	89585853	89585853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacagctgtggctgacaGcccccgggacacagcttccc	9	5	10	17	1	0	1	0	1	0	0	1	2	1	2	4	2	4	3	4	2	1	1	novel		11LU022_TP	11LU022_NB	G	G																c.1322G>T	p.Ser441Ile	p.S441I	ENST00000268138	4/22	267	236	31	269	269	0	strelka-varscan-mutect	TICRR,missense_variant,p.Ser441Ile,ENST00000268138,NM_152259.3;TICRR,missense_variant,p.Ser440Ile,ENST00000560985,NM_001308025.1;RP11-429B14.1,intron_variant,,ENST00000559041,;RP11-429B14.3,upstream_gene_variant,,ENST00000560477,;	T	ENST00000268138	Transcript	missense_variant	1427/6775	1322/5733	441/1910	S/I	aGc/aTc		1		1	TICRR	HGNC	HGNC:28704	protein_coding	YES	CCDS10352.2	ENSP00000268138	Q7Z2Z1		UPI0000D61399	NM_152259.3	deleterious(0.02)		4/22		hmmpanther:PTHR21556,Pfam_domain:PF15292																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	3	89585853	89585853	G	T	1	0	0	0	0	1	0	0	0	16328	971	34	2		2	TICRR	15	89585853	Missense_Mutation	SNP	G	11LU022_TP	713790	89585853	12405336	790	1462											
ANPEP	0	.	GRCh38	chr15	89803443	89803443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggtgcagtactcaccGccaggccctgcttgaatacg	8	7	11	15	2	1	1	1	1	0	0	1	1	1	1	4	2	4	3	4	2	3	3	rs139342584		11LU022_TP	11LU022_NB	G	G																c.1502C>A	p.Ala501Glu	p.A501E	ENST00000300060	9/21	174	164	10	219	218	1	strelka-varscan-mutect	ANPEP,missense_variant,p.Ala501Glu,ENST00000300060,NM_001150.2;ANPEP,downstream_gene_variant,,ENST00000559874,;ANPEP,downstream_gene_variant,,ENST00000560137,;ANPEP,upstream_gene_variant,,ENST00000558177,;ANPEP,missense_variant,p.Arg109Ser,ENST00000560030,;ANPEP,downstream_gene_variant,,ENST00000560028,;ANPEP,downstream_gene_variant,,ENST00000559887,;ANPEP,upstream_gene_variant,,ENST00000559761,;	T	ENST00000300060	Transcript	missense_variant,splice_region_variant	1816/3678	1502/2904	501/967	A/E	gCg/gAg	rs139342584	1		-1	ANPEP	HGNC	HGNC:500	protein_coding	YES	CCDS10356.1	ENSP00000300060	P15144	A0A024RC61	UPI00001AECCF	NM_001150.2	tolerated(0.45)		9/21		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF172,Gene3D:1.10.390.10,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		rs139342584	.												T	3	4	3	89803443	89803443	G	T	1	0	0	0	0	1	0	0	0	817	1101	38	1		1	ANPEP	15	89803443	Missense_Mutation	SNP	G	11LU022_TP	217590	89803443	12187746	791	1463											
CRTC3	0	.	GRCh38	chr15	90604448	90604448	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgacatctgcacttaacagGtacatgggttgtttcctggt	8	14	10	9	0	1	1	0	1	1	0	2	1	2	1	1	3	3	4	1	3	2	4	novel		11LU022_TP	11LU022_NB	G	G																c.476+1G>A		p.X159_splice	ENST00000268184		112	92	20	154	154	0	strelka-varscan-mutect	CRTC3,splice_donor_variant,,ENST00000420329,NM_001042574.2;CRTC3,splice_donor_variant,,ENST00000268184,NM_022769.4;CRTC3,splice_donor_variant,,ENST00000558005,;CRTC3,downstream_gene_variant,,ENST00000560098,;CTD-3065B20.3,non_coding_transcript_exon_variant,,ENST00000559839,;CRTC3,splice_donor_variant,,ENST00000558619,;CRTC3,splice_donor_variant,,ENST00000561255,;CRTC3,downstream_gene_variant,,ENST00000561218,;CRTC3,downstream_gene_variant,,ENST00000558496,;CRTC3,splice_donor_variant,,ENST00000561119,;	A	ENST00000268184	Transcript	splice_donor_variant	-/2537	476/1860	159/619				1		1	CRTC3	HGNC	HGNC:26148	protein_coding	YES	CCDS32331.1	ENSP00000268184	Q6UUV7		UPI00001FEB98	NM_022769.4				5/14																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	3	90604448	90604448	G	A	1	0	0	0	0	0	0	1	0	3703	1275	44	3		3	CRTC3	15	90604448	Splice_Site	SNP	G	11LU022_TP	801005	90604448	11386741	792	1464											
FES	0	.	GRCh38	chr15	90890419	90890419	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggagcaggagcgagaggggGgaaggacacccacgctggag	12	1	20	8	2	0	1	0	0	0	1	0	7	0	6	1	7	2	2	1	7	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.1255G>T	p.Gly419Ter	p.G419*	ENST00000328850	10/19	132	95	37	194	194	0	strelka-varscan-mutect	FES,stop_gained,p.Gly419Ter,ENST00000328850,NM_002005.3;FES,stop_gained,p.Gly361Ter,ENST00000414248,NM_001143785.1;FES,stop_gained,p.Gly361Ter,ENST00000394300,NM_001143783.1;FES,stop_gained,p.Gly419Ter,ENST00000444422,NM_001143784.1;FES,stop_gained,p.Gly361Ter,ENST00000394302,;FES,downstream_gene_variant,,ENST00000452243,;FES,downstream_gene_variant,,ENST00000559355,;FES,downstream_gene_variant,,ENST00000443697,;FES,non_coding_transcript_exon_variant,,ENST00000448367,;FES,stop_gained,p.Gly419Ter,ENST00000464684,;FES,non_coding_transcript_exon_variant,,ENST00000496379,;FES,non_coding_transcript_exon_variant,,ENST00000462476,;FES,downstream_gene_variant,,ENST00000470152,;FES,downstream_gene_variant,,ENST00000481665,;FES,downstream_gene_variant,,ENST00000497945,;FES,downstream_gene_variant,,ENST00000494259,;	T	ENST00000328850	Transcript	stop_gained	1397/2829	1255/2469	419/822	G/*	Gga/Tga		1		1	FES	HGNC	HGNC:3657	protein_coding	YES	CCDS10365.1	ENSP00000331504	P07332	A0A024RC92	UPI0000001C30	NM_002005.3			10/19		hmmpanther:PTHR24418:SF197,hmmpanther:PTHR24418,PIRSF_domain:PIRSF000632																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	3	90890419	90890419	G	T	1	0	0	0	0	0	1	0	0	5683	1233	43	2		2	FES	15	90890419	Nonsense_Mutation	SNP	G	11LU022_TP	285971	90890419	11100770	793	1465											
LRRK1	0	.	GRCh38	chr15	101027646	101027646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgtcccccagatccccagGagctacctgagcctgcagga	9	6	10	16	0	0	2	0	1	0	1	2	4	2	4	6	2	4	2	6	2	1	1	novel		11LU022_TP	11LU022_NB	G	G																c.2535G>T	p.Arg845Ser	p.R845S	ENST00000388948	19/34	288	224	64	348	348	0	strelka-varscan-mutect	LRRK1,missense_variant,p.Arg845Ser,ENST00000388948,NM_024652.4;LRRK1,3_prime_UTR_variant,,ENST00000525284,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;LRRK1,downstream_gene_variant,,ENST00000525617,;LRRK1,downstream_gene_variant,,ENST00000538064,;	T	ENST00000388948	Transcript	missense_variant	2894/7671	2535/6048	845/2015	R/S	agG/agT		1		1	LRRK1	HGNC	HGNC:18608	protein_coding	YES	CCDS42086.1	ENSP00000373600	Q38SD2		UPI0000D4FE63	NM_024652.4	deleterious(0.01)		19/34		Pfam_domain:PF16095																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	101027646	101027646	G	T	1	0	0	0	0	1	0	0	0	8938	1165	41	2		2	LRRK1	15	101027646	Missense_Mutation	SNP	G	11LU022_TP	10137227	101027646	963543	794	1466											
AXIN1	0	.	GRCh38	chr16	293519	293519	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtgctcggctggctctctTttcttcctcctccagacgtc	2	14	10	15	2	2	1	0	0	2	1	8	1	5	1	3	3	1	3	3	3	0	3	novel		11LU022_TP	11LU022_NB	T	T																c.2155A>C	p.Lys719Gln	p.K719Q	ENST00000262320	8/11	141	124	17	229	229	0	strelka-varscan-mutect	AXIN1,missense_variant,p.Lys719Gln,ENST00000262320,NM_003502.3;AXIN1,missense_variant,p.Lys719Gln,ENST00000354866,NM_181050.2;AXIN1,missense_variant,p.Lys7Gln,ENST00000457798,;AXIN1,downstream_gene_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	G	ENST00000262320	Transcript	missense_variant	2527/3643	2155/2589	719/862	K/Q	Aag/Cag		1		-1	AXIN1	HGNC	HGNC:903	protein_coding	YES	CCDS10405.1	ENSP00000262320	O15169	A0A0S2Z4R0	UPI000012669E	NM_003502.3	deleterious(0.01)		8/11		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	293519	293519	T	G	1	0	0	0	0	1	0	0	0	1393	1850	64	5		5	AXIN1	16	293519	Missense_Mutation	SNP	T	11LU022_TP		293519	90044826	795	1467											
MAPK8IP3	0	.	GRCh38	chr16	1743356	1743356	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcgccccacctccctGaacgtgttccccctggctga	7	7	10	17	2	0	2	0	2	0	0	2	3	2	3	6	2	2	2	6	2	2	1			11LU022_TP	11LU022_NB	G	G																c.624G>T	p.=	p.L208L	ENST00000250894	5/32	89	73	16	168	168	0	strelka-varscan-mutect	MAPK8IP3,synonymous_variant,p.=,ENST00000250894,NM_001318852.1,NM_015133.3;MAPK8IP3,synonymous_variant,p.=,ENST00000610761,;MAPK8IP3,synonymous_variant,p.=,ENST00000356010,NM_001040439.1;MAPK8IP3,upstream_gene_variant,,ENST00000568271,;MAPK8IP3,non_coding_transcript_exon_variant,,ENST00000564098,;MAPK8IP3,non_coding_transcript_exon_variant,,ENST00000561765,;MAPK8IP3,upstream_gene_variant,,ENST00000567849,;MAPK8IP3,upstream_gene_variant,,ENST00000568774,;	T	ENST00000250894	Transcript	synonymous_variant	781/5661	624/4011	208/1336	L	ctG/ctT	COSM4826669,COSM4826670	1		1	MAPK8IP3	HGNC	HGNC:6884	protein_coding	YES	CCDS10442.2	ENSP00000250894	Q9UPT6		UPI000034ECA7	NM_001318852.1,NM_015133.3			5/32		hmmpanther:PTHR13886,hmmpanther:PTHR13886:SF3											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	3	1743356	1743356	G	T	1	0	0	0	0	0	0	0	1	9210	1277	45	2		2	MAPK8IP3	16	1743356	Silent	SNP	G	11LU022_TP	1449837	1743356	88594989	796	1468											
PKD1	0	.	GRCh38	chr16	2116856	2116856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgggctgcagctcgcagacgTagctgtgcggcgctgagcac	6	6	16	13	5	0	2	0	1	0	1	1	2	0	2	0	2	5	8	0	2	1	1	rs750798165		11LU022_TP	11LU022_NB	T	T																c.1583A>G	p.Tyr528Cys	p.Y528C	ENST00000262304	7/46	420	359	61	609	609	0	strelka-varscan-mutect	PKD1,missense_variant,p.Tyr528Cys,ENST00000262304,NM_001009944.2;PKD1,missense_variant,p.Tyr528Cys,ENST00000423118,NM_000296.3;PKD1,intron_variant,,ENST00000488185,;PKD1,upstream_gene_variant,,ENST00000483024,;RP11-304L19.2,upstream_gene_variant,,ENST00000562027,;RP11-304L19.4,downstream_gene_variant,,ENST00000568795,;PKD1,intron_variant,,ENST00000570150,;PKD1,upstream_gene_variant,,ENST00000468674,;PKD1,missense_variant,p.Thr172Ala,ENST00000568591,;PKD1,upstream_gene_variant,,ENST00000483731,;PKD1,upstream_gene_variant,,ENST00000415938,;PKD1,upstream_gene_variant,,ENST00000565639,;PKD1,upstream_gene_variant,,ENST00000569983,;PKD1,upstream_gene_variant,,ENST00000469241,;	C	ENST00000262304	Transcript	missense_variant	1792/14138	1583/12912	528/4303	Y/C	tAc/tGc	rs750798165,CM074432	1		-1	PKD1	HGNC	HGNC:9008	protein_coding	YES	CCDS32369.1	ENSP00000262304	P98161		UPI00001B0454	NM_001009944.2	deleterious(0)		7/46		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF143,SMART_domains:SM00034,Superfamily_domains:SSF56436,TIGRFAM_domain:TIGR00864																	MODERATE	1	SNV	1		0,1	1										PASS		rs750798165	.												C	3	2	3	2116856	2116856	T	C	1	0	0	0	0	1	0	0	0	12059	1638	57	5		5	PKD1	16	2116856	Missense_Mutation	SNP	T	11LU022_TP	373500	2116856	88221489	797	1469											
NLRC3	0	.	GRCh38	chr16	3563415	3563415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaacacgtccagcctccCgtcctctgcctgcatggccc	6	7	9	19	2	1	0	0	0	1	0	4	1	4	1	6	2	4	1	6	2	1	0	rs773631921		11LU022_TP	11LU022_NB	C	C																c.1522G>A	p.Gly508Arg	p.G508R	ENST00000359128	5/20	135	113	22	176	176	0	strelka-varscan-mutect	NLRC3,missense_variant,p.Gly508Arg,ENST00000359128,NM_178844.3;NLRC3,missense_variant,p.Gly555Arg,ENST00000324659,;NLRC3,downstream_gene_variant,,ENST00000603055,;NLRC3,missense_variant,p.Gly508Arg,ENST00000615877,;	T	ENST00000359128	Transcript	missense_variant	1933/6401	1522/3198	508/1065	G/R	Ggg/Agg	rs773631921,COSM1301949,COSM4812622	1		-1	NLRC3	HGNC	HGNC:29889	protein_coding	YES	CCDS73817.1	ENSP00000352039	Q7RTR2	C3VPR7	UPI00004CE17D	NM_178844.3	tolerated(0.09)		5/20		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF127											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs773631921	.												T	3	4	3	3563415	3563415	C	T	1	0	0	0	0	1	0	0	0	10505	652	23	1		1	NLRC3	16	3563415	Missense_Mutation	SNP	C	11LU022_TP	1446559	3563415	86774930	798	1470											
CREBBP	0	.	GRCh38	chr16	3728306	3728306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgctgctgcatgcgctgCtgctgctgcatggccggtgg	4	10	16	11	2	0	1	0	0	0	1	0	1	0	1	1	3	8	8	1	3	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.6741G>T	p.Gln2247His	p.Q2247H	ENST00000262367	31/31	100	87	13	204	204	0	strelka-varscan-mutect	CREBBP,missense_variant,p.Gln2247His,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.Gln2209His,ENST00000382070,NM_001079846.1;CREBBP,downstream_gene_variant,,ENST00000637492,;CREBBP,downstream_gene_variant,,ENST00000576720,;CREBBP,downstream_gene_variant,,ENST00000571763,;	A	ENST00000262367	Transcript	missense_variant	7551/10803	6741/7329	2247/2442	Q/H	caG/caT		1		-1	CREBBP	HGNC	HGNC:2348	protein_coding	YES	CCDS10509.1	ENSP00000262367	Q92793		UPI0000000620	NM_004380.2	deleterious_low_confidence(0.03)		31/31		Low_complexity_(Seg):seg,hmmpanther:PTHR13808:SF5,hmmpanther:PTHR13808																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	3728306	3728306	C	A	1	0	0	0	0	1	0	0	0	3661	796	28	2		2	CREBBP	16	3728306	Missense_Mutation	SNP	C	11LU022_TP	164891	3728306	86610039	799	1471											
SEPT12	0	.	GRCh38	chr16	4784001	4784001	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatgtggcgctggcgggTgatgaggatctcctcctgca	5	10	17	9	2	1	2	0	2	1	0	3	4	2	4	2	5	1	2	2	5	0	0	rs757367193		11LU022_TP	11LU022_NB	T	T																c.442A>T	p.Thr148Ser	p.T148S	ENST00000268231	5/10	196	174	22	309	309	0	strelka-varscan-mutect	SEPT12,missense_variant,p.Thr148Ser,ENST00000268231,NM_144605.4;SEPT12,intron_variant,,ENST00000396693,NM_001154458.2;SMIM22,upstream_gene_variant,,ENST00000615889,NM_001253791.1;SMIM22,upstream_gene_variant,,ENST00000615471,;SMIM22,upstream_gene_variant,,ENST00000589721,NM_001253790.1;SMIM22,upstream_gene_variant,,ENST00000589327,;SEPT12,downstream_gene_variant,,ENST00000591624,;SEPT12,downstream_gene_variant,,ENST00000591861,;SEPT12,missense_variant,p.Thr148Ser,ENST00000587603,;SEPT12,3_prime_UTR_variant,,ENST00000590741,;SEPT12,intron_variant,,ENST00000588241,;SMIM22,upstream_gene_variant,,ENST00000591004,;SEPT12,downstream_gene_variant,,ENST00000590303,;	A	ENST00000268231	Transcript	missense_variant	706/1469	442/1077	148/358	T/S	Acc/Tcc	rs757367193	1		-1	SEPT12	HGNC	HGNC:26348	protein_coding	YES	CCDS10522.1	ENSP00000268231	Q8IYM1		UPI000007422A	NM_144605.4	tolerated(0.26)		5/10		PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF66,Pfam_domain:PF00735,Gene3D:3.40.50.300,PIRSF_domain:PIRSF006698,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs757367193	.												A	3	1	3	4784001	4784001	T	A	1	0	0	0	0	1	0	0	0	14338	1696	59	4		4	SEPT12	16	4784001	Missense_Mutation	SNP	T	11LU022_TP	1055695	4784001	85554344	800	1472											
SOCS1	0	.	GRCh38	chr16	11254991	11254991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgctggcgcagcggggccCccagcatgcggcgcggcgcc	3	2	19	17	7	0	0	0	0	0	0	0	0	0	0	3	6	3	3	3	6	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.488G>T	p.Gly163Val	p.G163V	ENST00000332029	2/2	200	161	39	272	270	2	strelka-varscan-mutect	SOCS1,missense_variant,p.Gly163Val,ENST00000332029,NM_003745.1;RMI2,intron_variant,,ENST00000572173,;RMI2,intron_variant,,ENST00000573910,;	A	ENST00000332029	Transcript	missense_variant	639/1225	488/636	163/211	G/V	gGg/gTg		1		-1	SOCS1	HGNC	HGNC:19383	protein_coding	YES	CCDS10546.1	ENSP00000329418	O15524	Q4JHT5	UPI0000033166	NM_003745.1	tolerated(0.39)		2/2		PROSITE_profiles:PS50001,PROSITE_profiles:PS50225,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF72,Gene3D:3.30.505.10,Superfamily_domains:SSF55550																	MODERATE	1	SNV	1			1										PASS		rs1412108457	.												A	3	1	3	11254991	11254991	C	A	1	0	0	0	0	1	0	0	0	15234	623	22	2		2	SOCS1	16	11254991	Missense_Mutation	SNP	C	11LU022_TP	6470990	11254991	79083354	801	1473											
MKL2	0	.	GRCh38	chr16	14240442	14240442	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagatcctgagtcagcagaAgcagcactacaactaccaga	15	5	9	12	0	1	4	1	1	0	3	2	4	2	4	2	0	6	4	2	0	4	2	novel		11LU022_TP	11LU022_NB	A	A																c.1037A>T	p.Lys346Met	p.K346M	ENST00000571589	10/17	151	129	22	179	179	0	strelka-varscan-mutect	MKL2,missense_variant,p.Lys346Met,ENST00000571589,NM_001308142.1;MKL2,missense_variant,p.Lys346Met,ENST00000318282,;MKL2,missense_variant,p.Lys346Met,ENST00000574045,NM_014048.3;MKL2,missense_variant,p.Lys335Met,ENST00000572567,;MKL2,missense_variant,p.Lys295Met,ENST00000573051,;	T	ENST00000571589	Transcript	missense_variant	1209/8799	1037/3300	346/1099	K/M	aAg/aTg		1		1	MKL2	HGNC	HGNC:29819	protein_coding	YES	CCDS76823.1	ENSP00000459626	Q9ULH7		UPI00001FEE5A	NM_001308142.1	deleterious(0)		10/17		Low_complexity_(Seg):seg,hmmpanther:PTHR22793:SF5,hmmpanther:PTHR22793																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	14240442	14240442	A	T	1	0	0	0	0	1	0	0	0	9569	72	3	4		4	MKL2	16	14240442	Missense_Mutation	SNP	A	11LU022_TP	2985451	14240442	76097903	802	1474											
XYLT1	0	.	GRCh38	chr16	17134617	17134617	+	Frame_Shift_Del	DEL	C	C	-																															agacattctcccagtaggagCgcaggcccggggtacctgca																								rs775575069		11LU022_TP	11LU022_NB	C	C																c.1883delG	p.Arg628ProfsTer17	p.R628Pfs*17	ENST00000261381	9/12	302	252	50	430	430	0	sindel-varindel-pindel	XYLT1,frameshift_variant,p.Arg628ProfsTer17,ENST00000261381,NM_022166.3;CTD-2576D5.4,intron_variant,,ENST00000567344,;	-	ENST00000261381	Transcript	frameshift_variant	1968/9891	1883/2880	628/959	R/X	cGc/cc	rs775575069,COSM2127790	1		-1	XYLT1	HGNC	HGNC:15516	protein_coding	YES	CCDS10569.1	ENSP00000261381	Q86Y38		UPI000000DCCE	NM_022166.3			9/12		Pfam_domain:PF12529											0,1						HIGH	1	deletion	1		0,1	1										PASS		.	.												-	7	5	3	17134617	17134617	C	-	1	0	1	0	1	0	0	0	0	18022	768	27	0		0	XYLT1	16	17134617	Frame_Shift_Del	DEL	C	11LU022_TP	2894175	17134617	73203728	803	1475											
SMG1	0	.	GRCh38	chr16	18847876	18847876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattttgctgtaacaatcCtgcatcatggcttggtcttc	9	15	7	10	0	2	0	1	0	1	0	4	0	3	0	1	2	3	4	1	2	3	5	novel		11LU022_TP	11LU022_NB	C	C																c.5781G>T	p.Gln1927His	p.Q1927H	ENST00000446231	37/63	235	211	24	293	292	1	strelka-varscan-mutect	SMG1,missense_variant,p.Gln1927His,ENST00000446231,NM_015092.4;SMG1,missense_variant,p.Gln1817His,ENST00000565324,;SMG1,non_coding_transcript_exon_variant,,ENST00000563448,;SMG1,non_coding_transcript_exon_variant,,ENST00000562668,;	A	ENST00000446231	Transcript	missense_variant	6194/16115	5781/10986	1927/3661	Q/H	caG/caT		1		-1	SMG1	HGNC	HGNC:30045	protein_coding	YES	CCDS45430.1	ENSP00000402515	Q96Q15		UPI00004F8E22	NM_015092.4	deleterious(0.03)		37/63		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF71,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	18847876	18847876	C	A	1	0	0	0	0	1	0	0	0	15089	680	24	2		2	SMG1	16	18847876	Missense_Mutation	SNP	C	11LU022_TP	1713259	18847876	71490469	804	1476											
DNAH3	0	.	GRCh38	chr16	20959311	20959311	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatggcattgttgatcAttttggcagcaatagggcct	8	15	11	7	0	1	2	1	2	0	0	1	2	1	2	1	3	1	4	1	3	2	6	rs150878924		11LU022_TP	11LU022_NB	A	A																c.10694T>G	p.Met3565Arg	p.M3565R	ENST00000261383	54/62	381	344	37	422	421	1	strelka-varscan-mutect	DNAH3,missense_variant,p.Met3565Arg,ENST00000261383,NM_017539.2;	C	ENST00000261383	Transcript	missense_variant	10694/12394	10694/12351	3565/4116	M/R	aTg/aGg	rs150878924	1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2	deleterious(0)		54/62		hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676,Pfam_domain:PF03028																	MODERATE	1	SNV	1			1										PASS		rs150878924	.												C	3	2	3	20959311	20959311	A	C	1	0	0	0	0	1	0	0	0	4418	217	8	5		5	DNAH3	16	20959311	Missense_Mutation	SNP	A	11LU022_TP	2111435	20959311	69379034	805	1477											
VWA3A	0	.	GRCh38	chr16	22110896	22110896	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtccaacagagcctcatCgatgagcagctgagccacaa	12	8	9	12	1	1	3	1	2	0	1	3	4	2	3	3	0	5	2	3	0	2	1	rs776374263		11LU022_TP	11LU022_NB	C	C																c.591C>T	p.=	p.I197I	ENST00000389398	8/34	107	89	18	103	103	0	strelka-mutect	VWA3A,synonymous_variant,p.=,ENST00000389398,NM_173615.4;VWA3A,synonymous_variant,p.=,ENST00000568328,;VWA3A,synonymous_variant,p.=,ENST00000567131,;VWA3A,non_coding_transcript_exon_variant,,ENST00000566668,;VWA3A,non_coding_transcript_exon_variant,,ENST00000562340,;	T	ENST00000389398	Transcript	synonymous_variant	687/4600	591/3555	197/1184	I	atC/atT	rs776374263,COSM1478629	1		1	VWA3A	HGNC	HGNC:27088	protein_coding	YES	CCDS45441.1	ENSP00000374049	A6NCI4		UPI0001663067	NM_173615.4			8/34		hmmpanther:PTHR10338:SF95,hmmpanther:PTHR10338,Pfam_domain:PF13768,Superfamily_domains:SSF53300											0,1						LOW	1	SNV	5		0,1	1										PASS		rs776374263	.												T	2	4	3	22110896	22110896	C	T	1	0	0	0	0	0	0	0	1	17794	874	31	1		1	VWA3A	16	22110896	Silent	SNP	C	11LU022_TP	1151585	22110896	68227449	806	1478											
COG7	0	.	GRCh38	chr16	23403767	23403767	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaagccagctggtgggccTgctggttaagccgagtcagc	8	7	15	11	2	1	0	1	0	0	0	1	2	1	0	3	3	5	3	3	3	2	1	novel		11LU022_TP	11LU022_NB	T	T																c.1730A>T	p.Gln577Leu	p.Q577L	ENST00000307149	13/17	384	336	48	539	539	0	strelka-varscan-mutect	COG7,missense_variant,p.Gln577Leu,ENST00000307149,NM_153603.3;COG7,non_coding_transcript_exon_variant,,ENST00000567821,;	A	ENST00000307149	Transcript	missense_variant	1916/2926	1730/2313	577/770	Q/L	cAg/cTg		1		-1	COG7	HGNC	HGNC:18622	protein_coding	YES	CCDS10610.1	ENSP00000305442	P83436	A0A0S2Z652	UPI0000127E42	NM_153603.3	tolerated(0.19)		13/17		hmmpanther:PTHR21443,Pfam_domain:PF10191																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	23403767	23403767	T	A	1	0	0	0	0	1	0	0	0	3451	1580	55	4		4	COG7	16	23403767	Missense_Mutation	SNP	T	11LU022_TP	1292871	23403767	66934578	807	1479											
KIAA0556	0	.	GRCh38	chr16	27775070	27775070	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacatgtggctggctcccAtcctgccgggcctggtgggt	3	9	16	13	1	0	0	0	0	0	0	2	0	2	0	4	6	1	3	4	6	0	0	novel		11LU022_TP	11LU022_NB	A	A																c.4435A>G	p.Ile1479Val	p.I1479V	ENST00000261588	24/28	192	151	41	236	236	0	strelka-varscan-mutect	KIAA0556,missense_variant,p.Ile1479Val,ENST00000261588,NM_015202.2;KIAA0556,upstream_gene_variant,,ENST00000568622,;	G	ENST00000261588	Transcript	missense_variant	4454/6616	4435/4857	1479/1618	I/V	Atc/Gtc		1		1	KIAA0556	HGNC	HGNC:29068	protein_coding	YES	CCDS32415.1	ENSP00000261588	O60303		UPI000045693C	NM_015202.2	tolerated(0.59)		24/28		hmmpanther:PTHR21534:SF0,hmmpanther:PTHR21534,Pfam_domain:PF14652																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	27775070	27775070	A	G	1	0	0	0	0	1	0	0	0	8088	217	8	5		5	KIAA0556	16	27775070	Missense_Mutation	SNP	A	11LU022_TP	4371303	27775070	62563275	808	1480											
APOBR	0	.	GRCh38	chr16	28497873	28497873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaagcctggaacatgtcagGggccaggaggagcagccaac	13	3	15	10	0	1	0	1	0	0	0	1	4	1	3	3	5	5	1	3	5	3	0	rs751700329		11LU022_TP	11LU022_NB	G	G																c.2832G>T	p.Arg944Ser	p.R944S	ENST00000564831	2/4	222	160	62	240	240	0	strelka-varscan-mutect	APOBR,missense_variant,p.Arg944Ser,ENST00000564831,NM_018690.3;APOBR,missense_variant,p.Arg935Ser,ENST00000431282,;CLN3,upstream_gene_variant,,ENST00000569430,;IL27,downstream_gene_variant,,ENST00000356897,NM_145659.3;IL27,downstream_gene_variant,,ENST00000568075,;CLN3,upstream_gene_variant,,ENST00000636355,;CLN3,upstream_gene_variant,,ENST00000567160,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000637110,;CLN3,upstream_gene_variant,,ENST00000566472,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000637686,;CLN3,upstream_gene_variant,,ENST00000563874,;	T	ENST00000564831	Transcript	missense_variant	2865/3792	2832/3294	944/1097	R/S	agG/agT	rs751700329	1		1	APOBR	HGNC	HGNC:24087	protein_coding	YES	CCDS58442.1	ENSP00000457539	Q0VD83		UPI000013EFFC	NM_018690.3	tolerated(0.27)		2/4		hmmpanther:PTHR15964:SF0,hmmpanther:PTHR15964																	MODERATE	1	SNV	1			1										PASS		rs751700329	.												T	3	4	3	28497873	28497873	G	T	1	0	0	0	0	1	0	0	0	918	1223	43	2		2	APOBR	16	28497873	Missense_Mutation	SNP	G	11LU022_TP	722803	28497873	61840472	809	1481											
SH2B1	0	.	GRCh38	chr16	28871811	28871811	+	Frame_Shift_Del	DEL	G	G	-																															ggcctctcagaccgcccctcGgcatccatctcccccagctc																								rs529774248		11LU022_TP	11LU022_NB	G	G																c.1342delG	p.Ala448HisfsTer95	p.A448Hfs*95	ENST00000322610	8/11	169	148	21	194	194	0	sindel-varindel-pindel	SH2B1,frameshift_variant,p.Ala448HisfsTer95,ENST00000337120,NM_001145796.1,NM_001145812.1,NM_015503.2;SH2B1,frameshift_variant,p.Ala448HisfsTer95,ENST00000322610,NM_001308293.1;SH2B1,frameshift_variant,p.Ala448HisfsTer95,ENST00000359285,NM_001145797.1;SH2B1,frameshift_variant,p.Ala448HisfsTer95,ENST00000618521,NM_001145795.1;SH2B1,frameshift_variant,p.Ala448HisfsTer95,ENST00000395532,;SH2B1,frameshift_variant,p.Ala112HisfsTer95,ENST00000538342,NM_001308294.1;SH2B1,frameshift_variant,p.Ala138HisfsTer95,ENST00000545570,;SH2B1,frameshift_variant,p.Ala89HisfsTer?,ENST00000561629,;SH2B1,frameshift_variant,p.Ala135HisfsTer?,ENST00000566176,;SH2B1,upstream_gene_variant,,ENST00000569651,;SH2B1,downstream_gene_variant,,ENST00000567536,;SH2B1,upstream_gene_variant,,ENST00000568868,;SH2B1,intron_variant,,ENST00000563674,;SH2B1,non_coding_transcript_exon_variant,,ENST00000569471,;	-	ENST00000322610	Transcript	frameshift_variant	1780/3095	1341/2271	447/756	S/X	tcG/tc	rs529774248	1		1	SH2B1	HGNC	HGNC:30417	protein_coding	YES	CCDS53996.1	ENSP00000321221	Q9NRF2	A0A024QZD2	UPI00001AF36C	NM_001308293.1			8/11		hmmpanther:PTHR10872,hmmpanther:PTHR10872:SF3,Low_complexity_(Seg):seg																	HIGH	1	deletion	2	1		1										PASS		.	.												-	7	5	3	28871811	28871811	G	-	1	0	1	0	1	0	0	0	0	14485	1103	39	0		0	SH2B1	16	28871811	Frame_Shift_Del	DEL	G	11LU022_TP	373938	28871811	61466534	810	1482											
QPRT	0	.	GRCh38	chr16	29697341	29697341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggggatgctgacccaggCggccccagcccttgatttct	6	9	12	14	1	1	2	0	2	1	0	1	3	1	3	4	4	2	1	4	4	0	2	novel		11LU022_TP	11LU022_NB	C	C																c.824C>A	p.Ala275Glu	p.A275E	ENST00000395384	4/4	168	138	30	195	194	1	strelka-varscan-mutect	QPRT,missense_variant,p.Ala275Glu,ENST00000395384,NM_014298.3;QPRT,missense_variant,p.Ala127Glu,ENST00000562473,;AC009133.22,downstream_gene_variant,,ENST00000449759,;QPRT,non_coding_transcript_exon_variant,,ENST00000219771,;QPRT,non_coding_transcript_exon_variant,,ENST00000564967,;	A	ENST00000395384	Transcript	missense_variant	985/2343	824/894	275/297	A/E	gCg/gAg		1		1	QPRT	HGNC	HGNC:9755	protein_coding	YES	CCDS10651.1	ENSP00000378782	Q15274		UPI000013C78C	NM_014298.3	deleterious(0)		4/4		hmmpanther:PTHR32179,PIRSF_domain:PIRSF006250,TIGRFAM_domain:TIGR00078,Pfam_domain:PF01729,Superfamily_domains:SSF51690																	MODERATE	1	SNV	1			1										PASS		rs1375163461	.												A	3	1	3	29697341	29697341	C	A	1	0	0	0	0	1	0	0	0	13031	768	27	1		1	QPRT	16	29697341	Missense_Mutation	SNP	C	11LU022_TP	825530	29697341	60641004	811	1483											
ALDOA	0	.	GRCh38	chr16	30067584	30067584	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcatcctcttccatgagAcactctaccagaaggcggat	10	10	9	12	1	3	2	1	1	2	2	5	4	5	3	3	2	1	0	3	2	2	2	novel		11LU022_TP	11LU022_NB	A	A																c.409A>G	p.Thr137Ala	p.T137A	ENST00000395248	10/16	334	268	66	444	444	0	strelka-varscan-mutect	ALDOA,missense_variant,p.Thr83Ala,ENST00000566897,;ALDOA,missense_variant,p.Thr137Ala,ENST00000395248,;ALDOA,missense_variant,p.Thr83Ala,ENST00000627059,;ALDOA,missense_variant,p.Thr83Ala,ENST00000338110,NM_000034.3;ALDOA,missense_variant,p.Thr83Ala,ENST00000564546,NM_184041.2;ALDOA,missense_variant,p.Thr137Ala,ENST00000564595,NM_001243177.1;ALDOA,missense_variant,p.Thr83Ala,ENST00000412304,NM_001127617.2;ALDOA,missense_variant,p.Thr83Ala,ENST00000563060,NM_184043.2;ALDOA,missense_variant,p.Thr83Ala,ENST00000569798,;ALDOA,missense_variant,p.Thr83Ala,ENST00000395240,;ALDOA,missense_variant,p.Thr83Ala,ENST00000569545,;ALDOA,missense_variant,p.Thr137Ala,ENST00000562679,;ALDOA,missense_variant,p.Thr72Ala,ENST00000562168,;ALDOA,missense_variant,p.Thr28Ala,ENST00000564688,;ALDOA,missense_variant,p.Thr83Ala,ENST00000563987,;ALDOA,missense_variant,p.Thr72Ala,ENST00000566846,;ALDOA,downstream_gene_variant,,ENST00000568435,;ALDOA,upstream_gene_variant,,ENST00000565355,;ALDOA,downstream_gene_variant,,ENST00000636698,;CTD-2515O10.5,upstream_gene_variant,,ENST00000617969,;ALDOA,non_coding_transcript_exon_variant,,ENST00000566012,;ALDOA,downstream_gene_variant,,ENST00000575627,;ALDOA,downstream_gene_variant,,ENST00000562240,;ALDOA,non_coding_transcript_exon_variant,,ENST00000564521,;ALDOA,non_coding_transcript_exon_variant,,ENST00000567555,;ALDOA,upstream_gene_variant,,ENST00000566130,;ALDOA,downstream_gene_variant,,ENST00000562302,;ALDOA,upstream_gene_variant,,ENST00000566146,;	G	ENST00000395248	Transcript	missense_variant	1391/2447	409/1257	137/418	T/A	Aca/Gca		1		1	ALDOA	HGNC	HGNC:414	protein_coding	YES	CCDS58450.1	ENSP00000378669	P04075		UPI0000E59D76		deleterious(0.01)		10/16		hmmpanther:PTHR11627,Gene3D:3.20.20.70,Pfam_domain:PF00274,Superfamily_domains:SSF51569																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	3	30067584	30067584	A	G	1	0	0	0	0	1	0	0	0	607	275	10	5		5	ALDOA	16	30067584	Missense_Mutation	SNP	A	11LU022_TP	370243	30067584	60270761	812	1484											
SEPT1	0	.	GRCh38	chr16	30378689	30378689	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctctgtggcgctctggCgggaaagcttactgcgggac	6	9	16	10	3	2	0	0	0	2	0	3	3	2	3	0	5	3	2	0	5	2	1	rs147923586		11LU022_TP	11LU022_NB	C	C																c.1079G>C	p.Arg360Pro	p.R360P	ENST00000321367	11/12	96	71	25	113	113	0	strelka-varscan-mutect	SEPT1,missense_variant,p.Arg360Pro,ENST00000321367,NM_052838.4;ZNF48,intron_variant,,ENST00000528032,;ZNF48,intron_variant,,ENST00000495929,;MYLPF,downstream_gene_variant,,ENST00000322861,NM_013292.3;MYLPF,downstream_gene_variant,,ENST00000568749,;MYLPF,downstream_gene_variant,,ENST00000566955,;MYLPF,downstream_gene_variant,,ENST00000563718,;SEPT1,downstream_gene_variant,,ENST00000570039,;SEPT1,downstream_gene_variant,,ENST00000567783,;RP11-297C4.6,downstream_gene_variant,,ENST00000624127,;SEPT1,3_prime_UTR_variant,,ENST00000572252,;SEPT1,non_coding_transcript_exon_variant,,ENST00000563957,;SEPT1,non_coding_transcript_exon_variant,,ENST00000573615,;SEPT1,non_coding_transcript_exon_variant,,ENST00000566517,;SEPT1,downstream_gene_variant,,ENST00000568577,;SEPT1,downstream_gene_variant,,ENST00000563743,;SEPT1,downstream_gene_variant,,ENST00000562152,;MYLPF,downstream_gene_variant,,ENST00000563728,;	G	ENST00000321367	Transcript	missense_variant	1125/1592	1079/1245	360/414	R/P	cGc/cCc	rs147923586	1		-1	SEPT1	HGNC	HGNC:2879	protein_coding	YES	CCDS10678.3	ENSP00000324511		J3KNL2	UPI000066D948	NM_052838.4	tolerated(0.09)		11/12		hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF6,PIRSF_domain:PIRSF006698																	MODERATE		SNV	5			1										PASS		rs147923586	.												G	3	3	3	30378689	30378689	C	G	1	0	0	0	0	1	0	0	0	14335	768	27	4		4	SEPT1	16	30378689	Missense_Mutation	SNP	C	11LU022_TP	311105	30378689	59959656	813	1485											
ZNF646	0	.	GRCh38	chr16	31079668	31079668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaggttgggcccatccCagaggcagcaggtagcagtg	8	5	15	13	0	0	1	0	0	0	1	1	1	1	1	4	4	2	5	4	4	1	2	novel		11LU022_TP	11LU022_NB	C	C																c.3344C>T	p.Pro1115Leu	p.P1115L	ENST00000300850	2/3	113	86	27	153	153	0	strelka-varscan-mutect	ZNF646,missense_variant,p.Pro1115Leu,ENST00000394979,;ZNF646,missense_variant,p.Pro1115Leu,ENST00000300850,NM_014699.3;PRSS53,downstream_gene_variant,,ENST00000280606,NM_001039503.2;ZNF646,downstream_gene_variant,,ENST00000428260,;ZNF646,downstream_gene_variant,,ENST00000564189,;PRSS53,downstream_gene_variant,,ENST00000486499,;RP11-196G11.1,downstream_gene_variant,,ENST00000533518,;	T	ENST00000300850	Transcript	missense_variant	3633/6892	3344/5499	1115/1832	P/L	cCa/cTa		1		1	ZNF646	HGNC	HGNC:29004	protein_coding	YES	CCDS10702.1	ENSP00000300850	O15015		UPI00001FFF54	NM_014699.3	deleterious(0.01)		2/3																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	31079668	31079668	C	T	1	0	0	0	0	1	0	0	0	18635	594	21	3		3	ZNF646	16	31079668	Missense_Mutation	SNP	C	11LU022_TP	700979	31079668	59258677	814	1486											
ITGAX	0	.	GRCh38	chr16	31357295	31357295	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgagtgcgggaggaacatgTacctcaccggactctgcttc	9	8	12	12	3	2	0	1	0	1	0	3	4	2	3	2	3	4	2	2	3	2	2	novel		11LU022_TP	11LU022_NB	T	T																c.361T>A	p.Tyr121Asn	p.Y121N	ENST00000562522	5/31	122	106	16	136	136	0	strelka-varscan-mutect	ITGAX,missense_variant,p.Tyr121Asn,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Tyr121Asn,ENST00000562522,NM_001286375.1;ITGAX,intron_variant,,ENST00000562918,;ITGAX,non_coding_transcript_exon_variant,,ENST00000567409,;ITGAX,upstream_gene_variant,,ENST00000571644,;ITGAX,downstream_gene_variant,,ENST00000564308,;RP11-120K18.3,downstream_gene_variant,,ENST00000561830,;	A	ENST00000562522	Transcript	missense_variant	394/3990	361/3510	121/1169	Y/N	Tac/Aac		1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	deleterious(0.01)		5/31		PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,Superfamily_domains:SSF53300,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	31357295	31357295	T	A	1	0	0	0	0	1	0	0	0	7796	1638	57	4		4	ITGAX	16	31357295	Missense_Mutation	SNP	T	11LU022_TP	277627	31357295	58981050	815	1487											
ITGAD	0	.	GRCh38	chr16	31426109	31426109	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatttcagctgtgtggcccCaaatgtgcctttgtcctaat	7	14	9	11	1	1	0	1	0	0	0	2	1	2	0	4	1	2	1	4	1	2	3	novel		11LU022_TP	11LU022_NB	C	C																c.3467C>A	p.Pro1156Gln	p.P1156Q	ENST00000389202	30/30	214	175	39	283	283	0	strelka-varscan-mutect	ITGAD,missense_variant,p.Pro1156Gln,ENST00000389202,NM_001318185.1,NM_005353.2;COX6A2,downstream_gene_variant,,ENST00000287490,NM_005205.3;RP11-452L6.8,upstream_gene_variant,,ENST00000615068,;ITGAD,downstream_gene_variant,,ENST00000567308,;COX6A2,downstream_gene_variant,,ENST00000565462,;	A	ENST00000389202	Transcript	missense_variant	3516/3912	3467/3486	1156/1161	P/Q	cCa/cAa		1		1	ITGAD	HGNC	HGNC:6146	protein_coding	YES	CCDS32438.1	ENSP00000373854	Q13349		UPI000004B27A	NM_001318185.1,NM_005353.2	deleterious_low_confidence(0)		30/30		hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	31426109	31426109	C	A	1	0	0	0	0	1	0	0	0	7791	594	21	2		2	ITGAD	16	31426109	Missense_Mutation	SNP	C	11LU022_TP	68814	31426109	58912236	816	1488											
VPS35	0	.	GRCh38	chr16	46677353	46677353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatattcttgagccaaagCatccctacagtttacaactt	13	12	6	10	0	1	2	0	1	1	1	2	3	2	2	2	0	5	2	2	0	5	7	novel		11LU022_TP	11LU022_NB	C	C																c.766G>T	p.Ala256Ser	p.A256S	ENST00000299138	7/17	187	149	38	322	322	0	strelka-varscan-mutect	VPS35,missense_variant,p.Ala256Ser,ENST00000299138,NM_018206.4;VPS35,non_coding_transcript_exon_variant,,ENST00000568642,;RP11-93O14.3,upstream_gene_variant,,ENST00000623850,;VPS35,3_prime_UTR_variant,,ENST00000568784,;VPS35,non_coding_transcript_exon_variant,,ENST00000569950,;VPS35,non_coding_transcript_exon_variant,,ENST00000565228,;VPS35,downstream_gene_variant,,ENST00000563884,;VPS35,downstream_gene_variant,,ENST00000568612,;VPS35,downstream_gene_variant,,ENST00000561713,;VPS35,downstream_gene_variant,,ENST00000568191,;	A	ENST00000299138	Transcript	missense_variant	825/6790	766/2391	256/796	A/S	Gct/Tct		1		-1	VPS35	HGNC	HGNC:13487	protein_coding	YES	CCDS10721.1	ENSP00000299138	Q96QK1		UPI0000138BEF	NM_018206.4	tolerated(0.33)		7/17		Pfam_domain:PF03635,hmmpanther:PTHR11099,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	46677353	46677353	C	A	1	0	0	0	0	1	0	0	0	17749	710	25	2		2	VPS35	16	46677353	Missense_Mutation	SNP	C	11LU022_TP	15251244	46677353	43660992	817	1489											
CHD9	0	.	GRCh38	chr16	53286226	53286226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtaattggtgatgttttcagGatatgaaaaatataacacta	16	14	8	3	0	1	2	1	2	0	0	1	3	1	3	0	2	1	2	0	2	7	8	novel		11LU022_TP	11LU022_NB	G	G																c.5072G>C	p.Gly1691Ala	p.G1691A	ENST00000447540	26/39	45	35	10	80	80	0	strelka-varscan-mutect	CHD9,missense_variant,p.Gly1691Ala,ENST00000566029,NM_025134.4;CHD9,missense_variant,p.Gly1691Ala,ENST00000447540,NM_001308319.1;CHD9,missense_variant,p.Gly1691Ala,ENST00000564845,;CHD9,missense_variant,p.Gly1691Ala,ENST00000398510,;CHD9,missense_variant,p.Gly59Ala,ENST00000615216,;CHD9,missense_variant,p.Gly59Ala,ENST00000622617,;CHD9,splice_region_variant,,ENST00000219084,;	C	ENST00000447540	Transcript	missense_variant,splice_region_variant	5281/11509	5072/8694	1691/2897	G/A	gGa/gCa		1		1	CHD9	HGNC	HGNC:25701	protein_coding	YES	CCDS76865.1	ENSP00000396345	Q3L8U1		UPI0000E02AC8	NM_001308319.1	deleterious(0)		26/39																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	3	53286226	53286226	G	C	1	0	0	0	0	1	0	0	0	3091	1188	41	4		4	CHD9	16	53286226	Missense_Mutation	SNP	G	11LU022_TP	6608873	53286226	37052119	818	1490											
CNOT1	0	.	GRCh38	chr16	58556846	58556846	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagacaacactaccacttaCaaggtttcatcttactctgc	13	11	4	13	0	3	1	1	0	2	1	3	1	3	1	1	1	5	1	1	1	5	4	novel		11LU022_TP	11LU022_NB	C	C																c.2479+1G>T		p.X827_splice	ENST00000317147		74	50	24	99	99	0	strelka-varscan-mutect	CNOT1,splice_donor_variant,,ENST00000317147,NM_016284.4;CNOT1,splice_donor_variant,,ENST00000441024,NM_206999.2;CNOT1,splice_donor_variant,,ENST00000569882,;CNOT1,splice_donor_variant,,ENST00000562046,;CNOT1,intron_variant,,ENST00000569240,NM_001265612.1;AC010287.1,downstream_gene_variant,,ENST00000623879,;SNORA50A,downstream_gene_variant,,ENST00000629536,;SNORA50A,downstream_gene_variant,,ENST00000384225,;CNOT1,intron_variant,,ENST00000569732,;CNOT1,intron_variant,,ENST00000567188,;	A	ENST00000317147	Transcript	splice_donor_variant	-/8471	2479/7131	827/2376				1		-1	CNOT1	HGNC	HGNC:7877	protein_coding	YES	CCDS10799.1	ENSP00000320949	A5YKK6		UPI00001FF2F6	NM_016284.4				19/48																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	3	58556846	58556846	C	A	1	0	0	0	0	0	0	1	0	3396	492	17	2		2	CNOT1	16	58556846	Splice_Site	SNP	C	11LU022_TP	5270620	58556846	31781499	819	1491											
CMTM1	0	.	GRCh38	chr16	66566559	66566559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcatccgaggcaccttcaGggaacttgaaacaaccggag	13	6	11	11	2	2	1	2	1	0	0	3	4	3	3	3	3	3	1	3	3	3	2			11LU022_TP	11LU022_NB	G	G																c.46G>T	p.Gly16Trp	p.G16W	ENST00000379500	1/4	105	76	29	156	156	0	strelka-varscan-mutect	CMTM1,missense_variant,p.Gly16Trp,ENST00000379500,NM_052999.3;CMTM1,missense_variant,p.Gly16Trp,ENST00000328020,NM_181268.2;CMTM1,missense_variant,p.Gly16Trp,ENST00000533953,;CMTM1,missense_variant,p.Gly16Trp,ENST00000457188,NM_181269.2;CMTM1,missense_variant,p.Gly16Trp,ENST00000528324,NM_181270.2;CMTM1,missense_variant,p.Gly16Trp,ENST00000332695,NM_181271.2;CMTM1,missense_variant,p.Gly16Trp,ENST00000336328,NM_181272.2;CMTM1,missense_variant,p.Gly16Trp,ENST00000531885,NM_181283.2;CMTM1,missense_variant,p.Gly16Trp,ENST00000533666,NM_181296.2;CMTM1,5_prime_UTR_variant,,ENST00000529506,;CKLF-CMTM1,intron_variant,,ENST00000616804,NM_001204099.1;CKLF-CMTM1,intron_variant,,ENST00000527729,NM_001202509.1;CKLF-CMTM1,intron_variant,,ENST00000529718,;CKLF-CMTM1,intron_variant,,ENST00000615332,NM_001204098.1;CKLF,downstream_gene_variant,,ENST00000264001,NM_016951.3;CKLF,downstream_gene_variant,,ENST00000417030,NM_001040138.2;CKLF-CMTM1,downstream_gene_variant,,ENST00000532838,;CKLF,downstream_gene_variant,,ENST00000345436,NM_181641.2;CKLF,downstream_gene_variant,,ENST00000351137,NM_181640.2;CKLF,downstream_gene_variant,,ENST00000362093,NM_016326.3;RP11-403P17.6,upstream_gene_variant,,ENST00000612427,;CKLF,downstream_gene_variant,,ENST00000563092,;CMTM1,missense_variant,p.Gly16Trp,ENST00000529386,;CMTM1,missense_variant,p.Gly16Trp,ENST00000533915,;CMTM1,missense_variant,p.Gly16Trp,ENST00000333001,;CMTM1,missense_variant,p.Gly16Trp,ENST00000528484,;CMTM1,missense_variant,p.Gly16Trp,ENST00000533078,;CKLF-CMTM1,intron_variant,,ENST00000527845,;CMTM1,upstream_gene_variant,,ENST00000479381,;CMTM1,upstream_gene_variant,,ENST00000528441,;CMTM1,upstream_gene_variant,,ENST00000530141,;CMTM1,upstream_gene_variant,,ENST00000465057,;CMTM1,upstream_gene_variant,,ENST00000534143,;CKLF,downstream_gene_variant,,ENST00000534692,;	T	ENST00000379500	Transcript	missense_variant	113/1064	46/861	16/286	G/W	Ggg/Tgg	COSM1609491,COSM1609492	1		1	CMTM1	HGNC	HGNC:19172	protein_coding	YES	CCDS10812.2	ENSP00000368814	Q8IZ96		UPI000056D4A6	NM_052999.3	deleterious(0.01)		1/4													1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	3	66566559	66566559	G	T	1	0	0	0	0	1	0	0	0	3358	1000	35	2		2	CMTM1	16	66566559	Missense_Mutation	SNP	G	11LU022_TP	8009713	66566559	23771786	820	1492											
KCTD19	0	.	GRCh38	chr16	67320834	67320834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaatgccagccccctaCgttgaaatgaaacaagtcct	14	8	8	11	1	0	3	0	3	0	1	1	4	1	3	4	0	4	1	4	0	5	2	rs761287238		11LU022_TP	11LU022_NB	C	C																c.55G>T	p.Val19Leu	p.V19L	ENST00000304372	2/16	133	101	32	158	158	0	strelka-varscan-mutect	KCTD19,missense_variant,p.Val19Leu,ENST00000304372,NM_001100915.1;KCTD19,missense_variant,p.Val14Leu,ENST00000567976,;KCTD19,missense_variant,p.Val14Leu,ENST00000566295,;RN7SKP118,downstream_gene_variant,,ENST00000364331,;KCTD19,non_coding_transcript_exon_variant,,ENST00000561625,;KCTD19,upstream_gene_variant,,ENST00000562860,;KCTD19,synonymous_variant,p.=,ENST00000562721,;KCTD19,non_coding_transcript_exon_variant,,ENST00000569333,;KCTD19,non_coding_transcript_exon_variant,,ENST00000570049,;KCTD19,non_coding_transcript_exon_variant,,ENST00000566392,;KCTD19,non_coding_transcript_exon_variant,,ENST00000568736,;	A	ENST00000304372	Transcript	missense_variant	111/2958	55/2781	19/926	V/L	Gta/Tta	rs761287238	1		-1	KCTD19	HGNC	HGNC:24753	protein_coding	YES	CCDS42179.1	ENSP00000305702	Q17RG1		UPI00001D7875	NM_001100915.1	deleterious(0)		2/16		Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF20,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		rs761287238	.												A	3	1	3	67320834	67320834	C	A	1	0	0	0	0	1	0	0	0	8023	536	19	1		1	KCTD19	16	67320834	Missense_Mutation	SNP	C	11LU022_TP	754275	67320834	23017511	821	1493											
ACD	0	.	GRCh38	chr16	67660323	67660323	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccttcgctgggcggggccgGaggaggaggccccgcccacg	4	4	18	15	5	0	0	0	0	0	0	2	3	1	3	5	7	0	1	5	7	0	1	rs765151223		11LU022_TP	11LU022_NB	G	G																c.156C>G	p.=	p.L52L	ENST00000620338	1/12	160	97	63	294	294	0	strelka-varscan-mutect	ACD,synonymous_variant,p.=,ENST00000620338,NM_001082486.1;ACD,synonymous_variant,p.=,ENST00000219251,NM_001082487.1,NM_022914.2;ACD,synonymous_variant,p.=,ENST00000393919,;CARMIL2,downstream_gene_variant,,ENST00000334583,NM_001013838.1;CARMIL2,downstream_gene_variant,,ENST00000545661,NM_001317026.1;ENKD1,downstream_gene_variant,,ENST00000243878,NM_032140.1;ACD,upstream_gene_variant,,ENST00000620761,;ACD,upstream_gene_variant,,ENST00000602320,;ENKD1,downstream_gene_variant,,ENST00000602644,;PARD6A,upstream_gene_variant,,ENST00000458121,NM_001037281.1;PARD6A,upstream_gene_variant,,ENST00000219255,NM_016948.2;PARD6A,upstream_gene_variant,,ENST00000602551,;ACD,upstream_gene_variant,,ENST00000602382,;ENKD1,downstream_gene_variant,,ENST00000602409,;ENKD1,downstream_gene_variant,,ENST00000602415,;ACD,upstream_gene_variant,,ENST00000602622,;ACD,upstream_gene_variant,,ENST00000602860,;PARD6A,upstream_gene_variant,,ENST00000602727,;ENKD1,downstream_gene_variant,,ENST00000602942,;ACD,upstream_gene_variant,,ENST00000602519,;CARMIL2,downstream_gene_variant,,ENST00000602368,;ENKD1,downstream_gene_variant,,ENST00000602531,;ACD,upstream_gene_variant,,ENST00000602850,;ACD,upstream_gene_variant,,ENST00000602945,;ACD,upstream_gene_variant,,ENST00000602656,;CARMIL2,downstream_gene_variant,,ENST00000602705,;ACD,upstream_gene_variant,,ENST00000602780,;ACD,upstream_gene_variant,,ENST00000602821,;ENKD1,downstream_gene_variant,,ENST00000602642,;ACD,upstream_gene_variant,,ENST00000602423,;	C	ENST00000620338	Transcript	synonymous_variant	493/2065	156/1635	52/544	L	ctC/ctG	rs765151223	1		-1	ACD	HGNC	HGNC:25070	protein_coding	YES	CCDS42181.1	ENSP00000483117	Q96AP0		UPI0000246BB2	NM_001082486.1			1/12		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs765151223	.												C	2	2	3	67660323	67660323	G	C	1	0	0	0	0	0	0	0	1	173	1161	41	4		4	ACD	16	67660323	Silent	SNP	G	11LU022_TP	339489	67660323	22678022	822	1494											
TANGO6	0	.	GRCh38	chr16	68927616	68927616	+	Missense_Mutation	SNP	G	G	A																															agcagttgttgcctctgttgGagaaggtatccaacacatac																								novel		11LU022_TP	11LU022_NB	G	G																c.2176G>A	p.Glu726Lys	p.E726K	ENST00000261778	13/18	148	96	52	181	180	1	strelka-varscan-mutect	TANGO6,missense_variant,p.Glu726Lys,ENST00000261778,NM_024562.1;RP11-521L9.1,non_coding_transcript_exon_variant,,ENST00000562790,;U7,upstream_gene_variant,,ENST00000610841,;TANGO6,3_prime_UTR_variant,,ENST00000561856,;	A	ENST00000261778	Transcript	missense_variant	2188/4816	2176/3285	726/1094	E/K	Gag/Aag		1		1	TANGO6	HGNC	HGNC:25749	protein_coding	YES	CCDS45516.1	ENSP00000261778	Q9C0B7		UPI00001FF4A8	NM_024562.1	deleterious(0.01)		13/18		hmmpanther:PTHR20959,hmmpanther:PTHR20959:SF1,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	68927616	68927616	G	A	1	0	0	0	0	1	0	0	0	15944	1175	41	3		3	TANGO6	16	68927616	Missense_Mutation	SNP	G	11LU022_TP	1267293	68927616	21410729	823	1495	37	2									
TANGO6	0	.	GRCh38	chr16	68927617	68927617	+	Missense_Mutation	SNP	A	A	T																															gcagttgttgcctctgttggAgaaggtatccaacacatacc																								novel		11LU022_TP	11LU022_NB	A	A																c.2177A>T	p.Glu726Val	p.E726V	ENST00000261778	13/18	147	96	51	189	189	0	strelka-varscan-mutect	TANGO6,missense_variant,p.Glu726Val,ENST00000261778,NM_024562.1;RP11-521L9.1,non_coding_transcript_exon_variant,,ENST00000562790,;U7,upstream_gene_variant,,ENST00000610841,;TANGO6,3_prime_UTR_variant,,ENST00000561856,;	T	ENST00000261778	Transcript	missense_variant	2189/4816	2177/3285	726/1094	E/V	gAg/gTg		1		1	TANGO6	HGNC	HGNC:25749	protein_coding	YES	CCDS45516.1	ENSP00000261778	Q9C0B7		UPI00001FF4A8	NM_024562.1	deleterious(0)		13/18		hmmpanther:PTHR20959,hmmpanther:PTHR20959:SF1,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	68927617	68927617	A	T	1	0	0	0	0	1	0	0	0	15944	304	11	4		4	TANGO6	16	68927617	Missense_Mutation	SNP	A	11LU022_TP	1	68927617	21410728	824	1496	37	2									
TMEM231	0	.	GRCh38	chr16	75540165	75540165	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaccatctcccagaatccTggctgataagtatggacagt	11	12	8	10	0	1	2	0	1	1	1	3	3	2	3	3	2	1	2	3	2	4	4	novel		11LU022_TP	11LU022_NB	T	T																c.780A>T	p.=	p.P260P	ENST00000258173	7/7	46	31	15	53	53	0	strelka-varscan-mutect	TMEM231,synonymous_variant,p.=,ENST00000258173,NM_001077418.2;TMEM231,synonymous_variant,p.=,ENST00000568377,NM_001077416.2;TMEM231,synonymous_variant,p.=,ENST00000565067,;CHST5,upstream_gene_variant,,ENST00000336257,NM_024533.4;CHST5,upstream_gene_variant,,ENST00000565039,;TMEM231,non_coding_transcript_exon_variant,,ENST00000569294,;RP11-77K12.8,downstream_gene_variant,,ENST00000564489,;TMEM231,downstream_gene_variant,,ENST00000564576,;TMEM231,3_prime_UTR_variant,,ENST00000562410,;TMEM231,3_prime_UTR_variant,,ENST00000570006,;TMEM231,non_coding_transcript_exon_variant,,ENST00000564318,;RP11-77K12.7,intron_variant,,ENST00000460606,;	A	ENST00000258173	Transcript	synonymous_variant	857/4278	780/951	260/316	P	ccA/ccT		1		-1	TMEM231	HGNC	HGNC:37234	protein_coding	YES	CCDS45530.1	ENSP00000258173	Q9H6L2		UPI00000704D8	NM_001077418.2			7/7		hmmpanther:PTHR14605,hmmpanther:PTHR14605:SF1,Pfam_domain:PF10149																	LOW	1	SNV	1			1										PASS		rs1412070252	.												A	2	1	3	75540165	75540165	T	A	1	0	0	0	0	0	0	0	1	16592	1567	55	4		4	TMEM231	16	75540165	Silent	SNP	T	11LU022_TP	6612548	75540165	14798180	825	1497											
C16orf46	0	.	GRCh38	chr16	81061466	81061466	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaatgcaggcagcgctgctCcggatcggtcagcagggata	9	6	14	12	3	1	0	1	0	0	0	3	2	2	2	2	4	4	5	2	4	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.883G>T	p.Glu295Ter	p.E295*	ENST00000299578	4/4	112	81	31	164	164	0	strelka-varscan-mutect	C16orf46,stop_gained,p.Glu295Ter,ENST00000378611,NM_001100873.1;C16orf46,stop_gained,p.Glu295Ter,ENST00000299578,NM_152337.2;C16orf46,downstream_gene_variant,,ENST00000565253,;RP11-303E16.8,intron_variant,,ENST00000564536,;C16orf46,downstream_gene_variant,,ENST00000444657,;	A	ENST00000299578	Transcript	stop_gained	1119/1605	883/1188	295/395	E/*	Gag/Tag		1		-1	C16orf46	HGNC	HGNC:26525	protein_coding	YES	CCDS10932.1	ENSP00000299578	Q6P387		UPI000013E5BE	NM_152337.2			4/4		hmmpanther:PTHR36869:SF1,hmmpanther:PTHR36869,Pfam_domain:PF15032																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	3	81061466	81061466	C	A	1	0	0	0	0	0	1	0	0	1856	864	30	2		2	C16orf46	16	81061466	Nonsense_Mutation	SNP	C	11LU022_TP	5521301	81061466	9276879	826	1498											
CDH13	0	.	GRCh38	chr16	83217436	83217436	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaattttcagaatcaatgAgaacacagggagcgtctccg	14	8	11	8	2	3	2	2	1	1	2	4	5	3	4	1	2	2	0	1	2	4	2	novel		11LU022_TP	11LU022_NB	A	A																c.716A>T	p.Glu239Val	p.E239V	ENST00000268613	6/15	140	108	32	152	152	0	strelka-varscan-mutect	CDH13,missense_variant,p.Glu192Val,ENST00000567109,NM_001220490.1,NM_001257.4;CDH13,missense_variant,p.Glu239Val,ENST00000268613,NM_001220488.1;CDH13,missense_variant,p.Glu153Val,ENST00000428848,NM_001220489.1;CDH13,non_coding_transcript_exon_variant,,ENST00000569454,;CDH13,3_prime_UTR_variant,,ENST00000539548,;	T	ENST00000268613	Transcript	missense_variant	809/2722	716/2283	239/760	E/V	gAg/gTg		1		1	CDH13	HGNC	HGNC:1753	protein_coding	YES	CCDS58485.1	ENSP00000268613	P55290		UPI00020E71A6	NM_001220488.1	deleterious(0.04)		6/15		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF80,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	83217436	83217436	A	T	1	0	0	0	0	1	0	0	0	2802	304	11	4		4	CDH13	16	83217436	Missense_Mutation	SNP	A	11LU022_TP	2155970	83217436	7120909	827	1499											
TRPV3	0	.	GRCh38	chr17	3530082	3530082	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagttgtccgtggtggtgTccacgttggtgaggtcgtag	4	13	17	7	3	0	2	0	2	0	0	3	2	2	2	2	4	0	3	2	4	1	3	novel		11LU022_TP	11LU022_NB	T	T																c.1187A>T	p.Asp396Val	p.D396V	ENST00000301365	9/18	120	92	28	179	179	0	strelka-varscan-mutect	TRPV3,missense_variant,p.Asp380Val,ENST00000616411,;TRPV3,missense_variant,p.Asp396Val,ENST00000301365,NM_001258205.1;TRPV3,missense_variant,p.Asp396Val,ENST00000572519,;TRPV3,missense_variant,p.Asp396Val,ENST00000576742,NM_145068.3;TRPV3,missense_variant,p.Asp170Val,ENST00000381913,;TRPV3,3_prime_UTR_variant,,ENST00000573539,;TRPV3,3_prime_UTR_variant,,ENST00000571139,;TRPV3,non_coding_transcript_exon_variant,,ENST00000575865,;TRPV3,non_coding_transcript_exon_variant,,ENST00000571005,;TRPV3,upstream_gene_variant,,ENST00000577016,;	A	ENST00000301365	Transcript	missense_variant	1319/3235	1187/2376	396/791	D/V	gAc/gTc		1		-1	TRPV3	HGNC	HGNC:18084	protein_coding	YES	CCDS58500.1	ENSP00000301365	Q8NET8		UPI0000200627	NM_001258205.1	deleterious(0)		9/18		hmmpanther:PTHR10582:SF6,hmmpanther:PTHR10582																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	3530082	3530082	T	A	1	0	0	0	0	1	0	0	0	17103	1667	58	4		4	TRPV3	17	3530082	Missense_Mutation	SNP	T	11LU022_TP		3530082	79727359	828	1500											
TP53	0	.	GRCh38	chr17	7670709	7670709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcgaagcgctcacgccCacggatctgcagcaacagag	11	5	10	15	4	3	1	1	0	2	1	4	3	3	2	1	1	4	3	1	1	2	0	rs730882028		11LU022_TP	11LU022_NB	C	C																c.1000G>T	p.Gly334Trp	p.G334W	ENST00000269305	10/11	181	145	36	285	285	0	strelka-varscan-mutect	TP53,missense_variant,p.Gly295Trp,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Gly334Trp,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Gly295Trp,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Gly334Trp,ENST00000445888,;TP53,missense_variant,p.Gly295Trp,ENST00000619485,;TP53,missense_variant,p.Gly202Trp,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Gly175Trp,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Gly323Trp,ENST00000615910,;TP53,3_prime_UTR_variant,,ENST00000617185,NM_001126114.2;TP53,3_prime_UTR_variant,,ENST00000420246,;TP53,3_prime_UTR_variant,,ENST00000622645,NM_001276696.1;TP53,3_prime_UTR_variant,,ENST00000455263,NM_001126113.2;TP53,3_prime_UTR_variant,,ENST00000610538,NM_001276695.1;TP53,3_prime_UTR_variant,,ENST00000510385,NM_001126116.1;TP53,3_prime_UTR_variant,,ENST00000618944,NM_001276698.1;TP53,3_prime_UTR_variant,,ENST00000504290,NM_001126117.1;TP53,3_prime_UTR_variant,,ENST00000610623,NM_001276699.1;TP53,intron_variant,,ENST00000359597,;TP53,intron_variant,,ENST00000413465,;TP53,intron_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Gly295Trp,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	1190/2579	1000/1182	334/393	G/W	Ggg/Tgg	rs730882028,TP53_g.16891del,TP53_g.16891G>T,COSM1386569,COSM48816	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		10/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:1olgA00,Pfam_domain:PF07710,Superfamily_domains:SSF47719,Prints_domain:PR00386										uncertain_significance	0,0,0,1,1						MODERATE	1	SNV	1		1,0,0,1,1	1										PASS		rs730882028	.												A	3	1	3	7670709	7670709	C	A	1	0	0	0	0	1	0	0	0	16859	594	21	2		2	TP53	17	7670709	Missense_Mutation	SNP	C	11LU022_TP	4140627	7670709	75586732	829	1501											
PER1	0	.	GRCh38	chr17	8149817	8149817	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggtataggtggacaTgtccatggagcaaggctcgc	9	8	14	10	1	0	0	0	0	0	0	3	2	2	2	2	5	1	3	2	5	3	2	rs144669833		11LU022_TP	11LU022_NB	T	T																c.589A>C	p.Met197Leu	p.M197L	ENST00000317276	5/23	235	184	51	361	361	0	strelka-varscan-mutect	PER1,missense_variant,p.Met197Leu,ENST00000317276,NM_002616.2;PER1,missense_variant,p.Met197Leu,ENST00000581082,;PER1,missense_variant,p.Met181Leu,ENST00000354903,;PER1,downstream_gene_variant,,ENST00000577253,;PER1,downstream_gene_variant,,ENST00000584202,;PER1,downstream_gene_variant,,ENST00000581703,;PER1,upstream_gene_variant,,ENST00000583559,;RP11-599B13.6,downstream_gene_variant,,ENST00000498285,;PER1,upstream_gene_variant,,ENST00000614952,;PER1,upstream_gene_variant,,ENST00000578089,;PER1,missense_variant,p.Met197Leu,ENST00000582719,;PER1,missense_variant,p.Met197Leu,ENST00000581395,;PER1,non_coding_transcript_exon_variant,,ENST00000579065,;PER1,upstream_gene_variant,,ENST00000578223,;PER1,upstream_gene_variant,,ENST00000585095,;PER1,upstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000579203,;PER1,upstream_gene_variant,,ENST00000578950,;	G	ENST00000317276	Transcript	missense_variant	827/4707	589/3873	197/1290	M/L	Atg/Ctg	rs144669833	1		-1	PER1	HGNC	HGNC:8845	protein_coding	YES	CCDS11131.1	ENSP00000314420	O15534		UPI000013FFF5	NM_002616.2	tolerated(0.36)		5/23		hmmpanther:PTHR11269:SF8,hmmpanther:PTHR11269																	MODERATE	1	SNV	1			1										PASS		rs144669833	.												G	3	3	3	8149817	8149817	T	G	1	0	0	0	0	1	0	0	0	11817	1464	51	5		5	PER1	17	8149817	Missense_Mutation	SNP	T	11LU022_TP	479108	8149817	75107624	830	1502											
MYH1	0	.	GRCh38	chr17	10496264	10496264	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggatggcttgggtgttccTatagttcctcagggcctcag	6	12	14	9	0	2	0	2	0	0	0	4	2	4	1	3	4	0	3	3	4	2	5	novel		11LU022_TP	11LU022_NB	T	T																c.4942A>T	p.Arg1648Trp	p.R1648W	ENST00000226207	34/40	117	103	14	173	173	0	strelka-mutect	MYH1,missense_variant,p.Arg1648Trp,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000226207	Transcript	missense_variant	5037/6024	4942/5820	1648/1939	R/W	Agg/Tgg		1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3	deleterious(0)		34/40		Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF454																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	3	10496264	10496264	T	A	1	0	0	0	0	1	0	0	0	10029	1521	53	4		4	MYH1	17	10496264	Missense_Mutation	SNP	T	11LU022_TP	2346447	10496264	72761177	831	1503											
MYH1	0	.	GRCh38	chr17	10508391	10508391	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcccgttgccccaacaaaGaggagagccagagtcttcat	11	7	10	13	1	2	3	1	0	1	3	3	4	3	3	4	1	3	2	4	1	2	2	rs370081195		11LU022_TP	11LU022_NB	G	G																c.1869C>G	p.=	p.L623L	ENST00000226207	16/40	63	52	11	123	122	1	strelka-varscan-mutect	MYH1,synonymous_variant,p.=,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	C	ENST00000226207	Transcript	synonymous_variant	1964/6024	1869/5820	623/1939	L	ctC/ctG	rs370081195,COSM5543160	1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3			16/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF454,SMART_domains:SM00242,Superfamily_domains:SSF52540											0,1						LOW		SNV	5		0,1	1										PASS		rs370081195	.												C	2	2	3	10508391	10508391	G	C	1	0	0	0	0	0	0	0	1	10029	929	33	4		4	MYH1	17	10508391	Silent	SNP	G	11LU022_TP	12127	10508391	72749050	832	1504											
MYH2	0	.	GRCh38	chr17	10542937	10542937	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgataacttctctcagccTtaagctggaaaacaactcta	14	12	5	10	0	3	1	1	1	2	0	4	2	3	2	1	1	5	1	1	1	7	5	novel		11LU022_TP	11LU022_NB	T	T																c.842A>T	p.Lys281Met	p.K281M	ENST00000245503	10/40	120	84	36	216	216	0	strelka-varscan-mutect	MYH2,missense_variant,p.Lys281Met,ENST00000245503,NM_017534.5;MYH2,missense_variant,p.Lys281Met,ENST00000397183,NM_001100112.1;MYH2,missense_variant,p.Lys281Met,ENST00000532183,;MYH2,missense_variant,p.Lys281Met,ENST00000622564,;MYH2,downstream_gene_variant,,ENST00000420805,;MYH2,downstream_gene_variant,,ENST00000578017,;MYHAS,intron_variant,,ENST00000587182,;	A	ENST00000245503	Transcript	missense_variant	1227/6339	842/5826	281/1941	K/M	aAg/aTg		1		-1	MYH2	HGNC	HGNC:7572	protein_coding	YES	CCDS11156.1	ENSP00000245503	Q9UKX2		UPI000012FB6C	NM_017534.5	deleterious(0.02)		10/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF385,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	10542937	10542937	T	A	1	0	0	0	0	1	0	0	0	10035	1609	56	4		4	MYH2	17	10542937	Missense_Mutation	SNP	T	11LU022_TP	34546	10542937	72714504	833	1505											
MYH3	0	.	GRCh38	chr17	10642529	10642529	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcttctccagccaaccTgagacactgtagtccacggt	8	12	8	13	1	2	1	0	1	2	1	4	2	3	1	4	1	2	2	4	1	2	4	novel		11LU022_TP	11LU022_NB	T	T																c.1776A>T	p.=	p.S592S	ENST00000583535	16/41	263	214	49	437	437	0	strelka-varscan-mutect	MYH3,synonymous_variant,p.=,ENST00000583535,NM_002470.3;	A	ENST00000583535	Transcript	synonymous_variant	1864/6037	1776/5823	592/1940	S	tcA/tcT		1		-1	MYH3	HGNC	HGNC:7573	protein_coding	YES	CCDS11157.1	ENSP00000464317	P11055		UPI000013C892	NM_002470.3			16/41		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF427,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		rs1331409157	.												A	2	1	3	10642529	10642529	T	A	1	0	0	0	0	0	0	0	1	10036	1567	55	4		4	MYH3	17	10642529	Silent	SNP	T	11LU022_TP	99592	10642529	72614912	834	1506											
NCOR1	0	.	GRCh38	chr17	16186599	16186599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaggaaggtcgccttCgaagctgttgctgctgctgt	9	10	13	9	2	0	0	0	0	0	0	2	2	0	1	1	2	5	6	1	2	4	2			11LU022_TP	11LU022_NB	C	C																c.197G>T	p.Arg66Leu	p.R66L	ENST00000268712	3/46	185	134	51	211	211	0	strelka-varscan-mutect	NCOR1,missense_variant,p.Arg66Leu,ENST00000268712,NM_006311.3;NCOR1,missense_variant,p.Arg66Leu,ENST00000395851,NM_001190440.1;NCOR1,missense_variant,p.Arg66Leu,ENST00000436828,;NCOR1,missense_variant,p.Arg66Leu,ENST00000411510,;NCOR1,missense_variant,p.Arg66Leu,ENST00000582357,;NCOR1,missense_variant,p.Arg66Leu,ENST00000430577,;NCOR1,intron_variant,,ENST00000395857,;NCOR1,intron_variant,,ENST00000395848,NM_001190438.1;NCOR1,missense_variant,p.Arg66Leu,ENST00000460276,;NCOR1,non_coding_transcript_exon_variant,,ENST00000585296,;NCOR1,intron_variant,,ENST00000579974,;	A	ENST00000268712	Transcript	missense_variant	455/10720	197/7323	66/2440	R/L	cGa/cTa	COSM254840,COSM4874523	1		-1	NCOR1	HGNC	HGNC:7672	protein_coding	YES	CCDS11175.1	ENSP00000268712	O75376	A0A024RD47	UPI000013D7D5	NM_006311.3	tolerated(0.09)		3/46		Low_complexity_(Seg):seg,hmmpanther:PTHR13992:SF5,hmmpanther:PTHR13992											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	3	16186599	16186599	C	A	1	0	0	0	0	1	0	0	0	10254	884	31	1		1	NCOR1	17	16186599	Missense_Mutation	SNP	C	11LU022_TP	5544070	16186599	67070842	835	1507											
MYO15A	0	.	GRCh38	chr17	18119931	18119931	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacggagtccactacacCgtcccctatgccgaaggcgt	8	7	9	17	4	0	0	0	0	0	0	2	2	2	1	6	2	3	0	6	2	4	3	rs779206128		11LU022_TP	11LU022_NB	C	C																c.1131C>A	p.=	p.T377T	ENST00000205890	2/66	464	332	132	678	678	0	strelka-varscan-mutect	MYO15A,synonymous_variant,p.=,ENST00000205890,NM_016239.3;MYO15A,synonymous_variant,p.=,ENST00000615845,;MYO15A,non_coding_transcript_exon_variant,,ENST00000583079,;	A	ENST00000205890	Transcript	synonymous_variant	1469/11863	1131/10593	377/3530	T	acC/acA	rs779206128,COSM3514858	1		1	MYO15A	HGNC	HGNC:7594	protein_coding	YES	CCDS42271.1	ENSP00000205890	Q9UKN7		UPI0000E59E6E	NM_016239.3			2/66													0,1						LOW	1	SNV	5		0,1	1										PASS		rs779206128	.												A	2	1	3	18119931	18119931	C	A	1	0	0	0	0	0	0	0	1	10063	639	23	1		1	MYO15A	17	18119931	Silent	SNP	C	11LU022_TP	1933332	18119931	65137510	836	1508											
CDRT15L2	0	.	GRCh38	chr17	20579888	20579888	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgcacccaggtaccaCaggacagcccggggcaggcc	10	1	15	15	2	0	0	0	0	0	0	0	2	0	1	4	6	2	3	4	6	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.145C>A	p.Gln49Lys	p.Q49K	ENST00000399044	1/2	188	142	46	308	308	0	strelka-varscan-mutect	CDRT15L2,missense_variant,p.Gln49Lys,ENST00000399044,NM_001190790.1;RP11-434D2.12,upstream_gene_variant,,ENST00000580931,;ZSWIM5P2,downstream_gene_variant,,ENST00000420212,;	A	ENST00000399044	Transcript	missense_variant	165/1048	145/846	49/281	Q/K	Cag/Aag		1		1	CDRT15L2	HGNC	HGNC:34075	protein_coding	YES	CCDS54096.1	ENSP00000382000	A8MXV6		UPI00001D7A81	NM_001190790.1	deleterious_low_confidence(0.03)		1/2		hmmpanther:PTHR16471,hmmpanther:PTHR16471:SF0																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	3	20579888	20579888	C	A	1	0	0	0	0	1	0	0	0	2881	479	17	2		2	CDRT15L2	17	20579888	Missense_Mutation	SNP	C	11LU022_TP	2459957	20579888	62677553	837	1509											
USP22	0	.	GRCh38	chr17	21015848	21015848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgcctcgcgtgggtccacaCcaggtgcagcaacttatacg	8	8	12	13	3	0	0	0	0	0	0	2	0	1	0	3	2	5	2	3	2	3	2	novel		11LU022_TP	11LU022_NB	C	C																c.742G>C	p.Val248Leu	p.V248L	ENST00000261497	6/13	223	169	54	301	301	0	strelka-varscan-mutect	USP22,missense_variant,p.Val248Leu,ENST00000261497,NM_015276.1;USP22,missense_variant,p.Val236Leu,ENST00000537526,;USP22,intron_variant,,ENST00000582335,;USP22,downstream_gene_variant,,ENST00000476111,;USP22,downstream_gene_variant,,ENST00000584538,;USP22,non_coding_transcript_exon_variant,,ENST00000577610,;USP22,intron_variant,,ENST00000455117,;USP22,3_prime_UTR_variant,,ENST00000579645,;USP22,non_coding_transcript_exon_variant,,ENST00000578446,;USP22,upstream_gene_variant,,ENST00000478443,;	G	ENST00000261497	Transcript	missense_variant	946/5220	742/1578	248/525	V/L	Gtg/Ctg		1		-1	USP22	HGNC	HGNC:12621	protein_coding	YES	CCDS42285.1	ENSP00000261497	Q9UPT9		UPI00001C1FC6	NM_015276.1	deleterious(0.01)		6/13		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF448,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	21015848	21015848	C	G	1	0	0	0	0	1	0	0	0	17595	507	18	4		4	USP22	17	21015848	Missense_Mutation	SNP	C	11LU022_TP	435960	21015848	62241593	838	1510											
NOS2	0	.	GRCh38	chr17	27772380	27772380	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgattttcctgtctctgtCgcaaagaggatggtgactct	7	15	10	9	1	3	3	0	2	3	1	6	4	4	4	1	2	0	1	1	2	1	2	rs775135778		11LU022_TP	11LU022_NB	C	C																c.1632G>T	p.=	p.A544A	ENST00000313735	14/27	264	194	70	387	387	0	strelka-varscan-mutect	NOS2,synonymous_variant,p.=,ENST00000313735,NM_000625.4;NOS2,synonymous_variant,p.=,ENST00000621962,;	A	ENST00000313735	Transcript	synonymous_variant	1866/4176	1632/3462	544/1153	A	gcG/gcT	rs775135778	1		-1	NOS2	HGNC	HGNC:7873	protein_coding	YES	CCDS11223.1	ENSP00000327251	P35228		UPI000011D645	NM_000625.4			14/27		PROSITE_profiles:PS50902,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF56,Pfam_domain:PF00258,Gene3D:3.40.50.360,Superfamily_domains:SSF52218,Prints_domain:PR00369																	LOW	1	SNV	1			1										PASS		rs775135778	.												A	2	1	3	27772380	27772380	C	A	1	0	0	0	0	0	0	0	1	10588	871	31	1		1	NOS2	17	27772380	Silent	SNP	C	11LU022_TP	6756532	27772380	55485061	839	1511											
NF1	0	.	GRCh38	chr17	31336712	31336712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttagaacaacatcttatgtgGgatgatattgctattttagc	12	16	8	5	0	1	2	0	1	1	1	1	3	1	3	0	1	4	1	0	1	7	7	novel		11LU022_TP	11LU022_NB	G	G																c.6225G>T	p.Trp2075Cys	p.W2075C	ENST00000358273	42/58	187	124	63	197	197	0	strelka-varscan-mutect	NF1,missense_variant,p.Trp2075Cys,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Trp2054Cys,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Trp1720Cys,ENST00000456735,;NF1,downstream_gene_variant,,ENST00000581113,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000479536,;NF1,downstream_gene_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000471572,;NF1,upstream_gene_variant,,ENST00000581790,;NF1,upstream_gene_variant,,ENST00000584328,;NF1,upstream_gene_variant,,ENST00000582892,;	T	ENST00000358273	Transcript	missense_variant	6608/12425	6225/8520	2075/2839	W/C	tgG/tgT		1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2	deleterious(0)		42/58		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF90																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	31336712	31336712	G	T	1	0	0	0	0	1	0	0	0	10393	1241	43	2		2	NF1	17	31336712	Missense_Mutation	SNP	G	11LU022_TP	3564332	31336712	51920729	840	1512											
NF1	0	.	GRCh38	chr17	31337851	31337851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatattccaacgtgcaagtgGctggaccagtggacagaact	12	8	12	9	1	0	1	0	0	0	1	1	4	1	3	2	3	3	2	2	3	4	2			11LU022_TP	11LU022_NB	G	G																c.6675G>T	p.Trp2225Cys	p.W2225C	ENST00000358273	44/58	368	262	106	348	346	2	strelka-varscan-mutect	NF1,missense_variant,p.Trp2225Cys,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Trp2204Cys,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Trp1870Cys,ENST00000456735,;NF1,downstream_gene_variant,,ENST00000581113,;NF1,missense_variant,p.Ala13Ser,ENST00000471572,;NF1,missense_variant,p.Ala13Ser,ENST00000581790,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000584328,;NF1,downstream_gene_variant,,ENST00000479536,;NF1,upstream_gene_variant,,ENST00000582892,;	T	ENST00000358273	Transcript	missense_variant	7058/12425	6675/8520	2225/2839	W/C	tgG/tgT	COSM1520754,COSM1520755,COSM5274341	1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2	deleterious(0)		44/58		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF90,Superfamily_domains:SSF48371											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	3	31337851	31337851	G	T	1	0	0	0	0	1	0	0	0	10393	1212	42	2		2	NF1	17	31337851	Missense_Mutation	SNP	G	11LU022_TP	1139	31337851	51919590	841	1513											
UNC45B	0	.	GRCh38	chr17	35155349	35155349	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatctgtagcctcatggcCgtggagaatgaggagatgtc	10	9	14	8	2	2	3	1	1	1	2	3	6	2	3	2	3	1	1	2	3	3	1	rs565375347		11LU022_TP	11LU022_NB	C	C																c.693C>A	p.=	p.A231A	ENST00000268876	7/20	144	133	11	130	129	1	strelka-varscan-mutect	UNC45B,synonymous_variant,p.=,ENST00000268876,NM_173167.2;UNC45B,synonymous_variant,p.=,ENST00000394570,NM_001267052.1,NM_001033576.1;UNC45B,synonymous_variant,p.=,ENST00000591048,NM_001308281.1;	A	ENST00000268876	Transcript	synonymous_variant	790/5679	693/2796	231/931	A	gcC/gcA	rs565375347,COSM1382422	1		1	UNC45B	HGNC	HGNC:14304	protein_coding	YES	CCDS11292.1	ENSP00000268876	Q8IWX7		UPI0000074455	NM_173167.2			7/20		Gene3D:1.25.10.10,Superfamily_domains:SSF48371											0,1						LOW	1	SNV	5		0,1	1										PASS		rs565375347	.												A	2	1	3	35155349	35155349	C	A	1	0	0	0	0	0	0	0	1	17513	639	23	1		1	UNC45B	17	35155349	Silent	SNP	C	11LU022_TP	3817498	35155349	48102092	842	1514											
CCL5	0	.	GRCh38	chr17	35878581	35878581	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagaaatactccttgatgtgGgcacggggcagtgggcgggc	8	8	17	8	2	0	2	0	1	0	1	1	2	1	2	1	5	1	2	1	5	3	3	novel		11LU022_TP	11LU022_NB	G	G																c.135C>A	p.=	p.A45A	ENST00000603197	2/3	143	105	38	134	134	0	strelka-varscan-mutect	CCL5,synonymous_variant,p.=,ENST00000603197,NM_002985.2;CCL5,synonymous_variant,p.=,ENST00000605140,;CCL5,synonymous_variant,p.=,ENST00000605509,NM_001278736.1;AC015849.2,intron_variant,,ENST00000605548,;	T	ENST00000603197	Transcript	synonymous_variant	338/1365	135/276	45/91	A	gcC/gcA		1		-1	CCL5	HGNC	HGNC:10632	protein_coding	YES	CCDS11300.1	ENSP00000474412	P13501		UPI000004A187	NM_002985.2			2/3		Gene3D:2.40.50.40,Pfam_domain:PF00048,PROSITE_patterns:PS00472,hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF82,SMART_domains:SM00199,Superfamily_domains:SSF54117																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	35878581	35878581	G	T	1	0	0	0	0	0	0	0	1	2603	1219	43	2		2	CCL5	17	35878581	Silent	SNP	G	11LU022_TP	723232	35878581	47378860	843	1515											
TBC1D3B	0	.	GRCh38	chr17	36167629	36167629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagtgtcctcatccctggcCcaggtatcaacgaaccggtt	9	9	9	14	2	2	0	2	0	0	0	4	1	4	0	4	3	2	2	4	3	3	2	novel		11LU022_TP	11LU022_NB	C	C																c.996G>T	p.Trp332Cys	p.W332C	ENST00000611257	13/14	38	34	4	44	44	0	varscan-mutect	TBC1D3B,missense_variant,p.Trp332Cys,ENST00000611257,NM_001001417.6;TBC1D3B,downstream_gene_variant,,ENST00000616006,;CTB-91J4.1,intron_variant,,ENST00000617914,;TBC1D3B,downstream_gene_variant,,ENST00000622280,;RP11-428O23.1,downstream_gene_variant,,ENST00000633081,;	A	ENST00000611257	Transcript	missense_variant	1113/2081	996/1650	332/549	W/C	tgG/tgT		1		-1	TBC1D3B	HGNC	HGNC:27011	protein_coding	YES	CCDS42300.1	ENSP00000478473	A6NDS4		UPI000292EEF0	NM_001001417.6	deleterious(0)		13/14		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF233																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	36167629	36167629	C	A	1	0	0	0	0	1	0	0	0	16023	624	22	2		2	TBC1D3B	17	36167629	Missense_Mutation	SNP	C	11LU022_TP	289048	36167629	47089812	844	1516											
KRT24	0	.	GRCh38	chr17	40703153	40703153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccaccgtctccagacccagGcccatatttgtcataccact	9	10	5	17	1	2	1	1	0	1	1	4	1	3	1	6	1	1	0	6	1	2	3	novel		11LU022_TP	11LU022_NB	G	G																c.541C>A	p.Pro181Thr	p.P181T	ENST00000264651	1/8	145	91	54	155	155	0	strelka-varscan-mutect	KRT24,missense_variant,p.Pro181Thr,ENST00000264651,NM_019016.2;	T	ENST00000264651	Transcript	missense_variant	598/1881	541/1578	181/525	P/T	Cct/Act		1		-1	KRT24	HGNC	HGNC:18527	protein_coding	YES	CCDS11372.1	ENSP00000264651	Q2M2I5		UPI000013D54D	NM_019016.2	tolerated(0.06)		1/8		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF207,Low_complexity_(Seg):seg,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	40703153	40703153	G	T	1	0	0	0	0	1	0	0	0	8343	1203	42	2		2	KRT24	17	40703153	Missense_Mutation	SNP	G	11LU022_TP	4535524	40703153	42554288	845	1517											
KRTAP16-1	0	.	GRCh38	chr17	41307730	41307730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcttgctggcagcaggCtgagctgctgcggcctcacg	5	7	16	13	2	1	1	1	1	0	0	1	1	1	1	1	4	5	8	1	4	0	1	novel		11LU022_TP	11LU022_NB	C	C																c.1524G>T	p.Gln508His	p.Q508H	ENST00000391352	1/1	59	40	19	55	55	0	strelka-varscan-mutect	KRTAP16-1,missense_variant,p.Gln508His,ENST00000391352,NM_001146182.1;KRTAP29-1,upstream_gene_variant,,ENST00000391353,NM_001257309.1;	A	ENST00000391352	Transcript	missense_variant	1524/1554	1524/1554	508/517	Q/H	caG/caT		1		-1	KRTAP16-1	HGNC	HGNC:18916	protein_coding	YES	CCDS56032.1	ENSP00000375147	A8MUX0		UPI000015FD61	NM_001146182.1	tolerated_low_confidence(0.06)		1/1		Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		rs1489250395	.												A	3	1	3	41307730	41307730	C	A	1	0	0	0	0	1	0	0	0	8410	796	28	2		2	KRTAP16-1	17	41307730	Missense_Mutation	SNP	C	11LU022_TP	604577	41307730	41949711	846	1518											
KRT15	0	.	GRCh38	chr17	41516230	41516230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtccatctccacattgacCtggccggccagctggctgct	5	9	11	16	2	1	1	0	1	1	0	3	1	2	1	5	3	2	3	5	3	0	1	novel		11LU022_TP	11LU022_NB	C	C																c.774G>T	p.Gln258His	p.Q258H	ENST00000254043	4/8	101	65	36	126	126	0	strelka-mutect	KRT15,missense_variant,p.Gln258His,ENST00000254043,NM_002275.3;KRT15,missense_variant,p.Gln93His,ENST00000393974,;KRT15,missense_variant,p.Gln258His,ENST00000393976,;KRT15,missense_variant,p.Gln93His,ENST00000458290,;KRT15,downstream_gene_variant,,ENST00000613845,;KRT15,3_prime_UTR_variant,,ENST00000497016,;KRT15,non_coding_transcript_exon_variant,,ENST00000474031,;KRT15,non_coding_transcript_exon_variant,,ENST00000463447,;KRT15,downstream_gene_variant,,ENST00000470004,;KRT15,upstream_gene_variant,,ENST00000586794,;	A	ENST00000254043	Transcript	missense_variant	4360/5237	774/1371	258/456	Q/H	caG/caT		1		-1	KRT15	HGNC	HGNC:6421	protein_coding	YES	CCDS11398.1	ENSP00000254043	P19012		UPI000013CE0E	NM_002275.3	tolerated(0.06)		4/8		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF164,SMART_domains:SM01391,Superfamily_domains:SSF46579																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	41516230	41516230	C	A	1	0	0	0	0	1	0	0	0	8334	680	24	2		2	KRT15	17	41516230	Missense_Mutation	SNP	C	11LU022_TP	208500	41516230	41741211	847	1519											
GHDC	0	.	GRCh38	chr17	42192633	42192633	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagggtattcccaggcCaaggcaggggtcggggccaa	8	4	17	12	1	0	0	0	0	0	0	2	0	1	0	4	8	0	2	4	8	3	2	novel		11LU022_TP	11LU022_NB	C	C																c.497G>A	p.Trp166Ter	p.W166*	ENST00000301671	4/9	100	89	11	131	131	0	strelka-varscan-mutect	GHDC,stop_gained,p.Trp166Ter,ENST00000301671,;GHDC,stop_gained,p.Trp166Ter,ENST00000428494,;GHDC,stop_gained,p.Trp166Ter,ENST00000414034,NM_001142623.1;GHDC,stop_gained,p.Trp166Ter,ENST00000587427,NM_032484.4;GHDC,stop_gained,p.Trp166Ter,ENST00000593209,;GHDC,downstream_gene_variant,,ENST00000590249,;GHDC,downstream_gene_variant,,ENST00000588352,;GHDC,downstream_gene_variant,,ENST00000590520,;GHDC,downstream_gene_variant,,ENST00000586692,;GHDC,3_prime_UTR_variant,,ENST00000588762,;GHDC,upstream_gene_variant,,ENST00000585735,;GHDC,downstream_gene_variant,,ENST00000585375,;	T	ENST00000301671	Transcript	stop_gained	939/2650	497/1593	166/530	W/*	tGg/tAg		1		-1	GHDC	HGNC	HGNC:24438	protein_coding	YES	CCDS11422.1	ENSP00000301671	Q8N2G8	A0A024R1Y7	UPI000006E533				4/9		hmmpanther:PTHR31901,hmmpanther:PTHR31901:SF5																	HIGH	1	SNV	2			1										PASS		rs1428122427	.												T	4	4	3	42192633	42192633	C	T	1	0	0	0	0	0	1	0	0	6247	595	21	3		3	GHDC	17	42192633	Nonsense_Mutation	SNP	C	11LU022_TP	676403	42192633	41064808	848	1520											
ATP6V0A1	0	.	GRCh38	chr17	42480680	42480680	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctagggcgactacgtgcAcaagtctgtgtttatcattt	8	13	11	9	2	2	0	1	0	1	0	2	1	2	0	1	2	2	2	1	2	4	5	novel		11LU022_TP	11LU022_NB	A	A																c.668A>G	p.His223Arg	p.H223R	ENST00000264649	8/21	136	121	15	115	115	0	strelka-varscan-mutect	ATP6V0A1,missense_variant,p.His216Arg,ENST00000343619,NM_001130021.1;ATP6V0A1,missense_variant,p.His223Arg,ENST00000264649,NM_001130020.1;ATP6V0A1,missense_variant,p.His216Arg,ENST00000393829,NM_005177.3;ATP6V0A1,missense_variant,p.His173Arg,ENST00000537728,;ATP6V0A1,missense_variant,p.His173Arg,ENST00000585525,;ATP6V0A1,missense_variant,p.His157Arg,ENST00000589727,;ATP6V0A1,missense_variant,p.His183Arg,ENST00000592324,;ATP6V0A1,intron_variant,,ENST00000544137,;ATP6V0A1,upstream_gene_variant,,ENST00000589759,;ATP6V0A1,non_coding_transcript_exon_variant,,ENST00000587882,;ATP6V0A1,non_coding_transcript_exon_variant,,ENST00000587375,;ATP6V0A1,downstream_gene_variant,,ENST00000588901,;ATP6V0A1,downstream_gene_variant,,ENST00000586001,;	G	ENST00000264649	Transcript	missense_variant	799/4110	668/2517	223/838	H/R	cAc/cGc		1		1	ATP6V0A1	HGNC	HGNC:865	protein_coding	YES	CCDS45683.1	ENSP00000264649	Q93050		UPI0000E59F9E	NM_001130020.1	tolerated(0.31)		8/21		hmmpanther:PTHR11629:SF68,hmmpanther:PTHR11629,PIRSF_domain:PIRSF001293,Pfam_domain:PF01496																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	42480680	42480680	A	G	1	0	0	0	0	1	0	0	0	1321	159	6	5		5	ATP6V0A1	17	42480680	Missense_Mutation	SNP	A	11LU022_TP	288047	42480680	40776761	849	1521											
MEOX1	0	.	GRCh38	chr17	43661134	43661134	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgctcccaagcaccccgTagtcatcgcctgggcctcct	6	8	9	18	2	1	0	1	0	0	0	4	0	3	0	6	1	2	3	6	1	2	1	rs767408491		11LU022_TP	11LU022_NB	T	T																c.401A>T	p.Tyr134Phe	p.Y134F	ENST00000318579	1/3	29	22	7	33	33	0	strelka-varscan-mutect	MEOX1,missense_variant,p.Tyr134Phe,ENST00000318579,NM_004527.3;MEOX1,missense_variant,p.Tyr134Phe,ENST00000329168,NM_013999.3;MEOX1,missense_variant,p.Tyr19Phe,ENST00000393661,NM_001040002.1;MEOX1,missense_variant,p.Thr105Ser,ENST00000549132,;	A	ENST00000318579	Transcript	missense_variant	821/2707	401/765	134/254	Y/F	tAc/tTc	rs767408491	1		-1	MEOX1	HGNC	HGNC:7013	protein_coding	YES	CCDS11466.1	ENSP00000321684	P50221		UPI000012F410	NM_004527.3	tolerated(0.41)		1/3		hmmpanther:PTHR24328:SF8,hmmpanther:PTHR24328																	MODERATE	1	SNV	1			1										PASS		rs767408491	.												A	3	1	3	43661134	43661134	T	A	1	0	0	0	0	1	0	0	0	9418	1638	57	4		4	MEOX1	17	43661134	Missense_Mutation	SNP	T	11LU022_TP	1180454	43661134	39596307	850	1522											
FZD2	0	.	GRCh38	chr17	44557758	44557758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgccgccgggccggccCagttccacggggagaagggc	5	3	17	16	5	0	1	0	0	0	1	1	2	1	1	6	5	1	1	6	5	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.70C>A	p.Gln24Lys	p.Q24K	ENST00000315323	1/1	234	205	29	248	248	0	strelka-varscan-mutect	FZD2,missense_variant,p.Gln24Lys,ENST00000315323,NM_001466.3;	A	ENST00000315323	Transcript	missense_variant	300/2112	70/1698	24/565	Q/K	Cag/Aag		1		1	FZD2	HGNC	HGNC:4040	protein_coding	YES	CCDS11484.1	ENSP00000323901	Q14332		UPI0000050444	NM_001466.3	deleterious(0.04)		1/1		hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF34																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	3	44557758	44557758	C	A	1	0	0	0	0	1	0	0	0	6001	595	21	2		2	FZD2	17	44557758	Missense_Mutation	SNP	C	11LU022_TP	896624	44557758	38699683	851	1523											
CACNA1G	0	.	GRCh38	chr17	50618776	50618776	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgtggtgatcgccgtgcTgatgaagcacctggaggaga	10	7	15	9	3	0	4	0	3	0	1	1	6	0	5	2	3	3	2	2	3	2	0	novel		11LU022_TP	11LU022_NB	T	T																c.5549T>C	p.Leu1850Pro	p.L1850P	ENST00000359106	33/38	313	283	30	377	377	0	strelka-varscan-mutect	CACNA1G,missense_variant,p.Leu1816Pro,ENST00000354983,NM_198396.2;CACNA1G,missense_variant,p.Leu1816Pro,ENST00000352832,NM_198387.2;CACNA1G,missense_variant,p.Leu1850Pro,ENST00000359106,NM_018896.4;CACNA1G,missense_variant,p.Leu1827Pro,ENST00000360761,NM_198382.2;CACNA1G,missense_variant,p.Leu1809Pro,ENST00000442258,NM_198388.2;CACNA1G,missense_variant,p.Leu1832Pro,ENST00000429973,NM_198386.2;CACNA1G,missense_variant,p.Leu1839Pro,ENST00000507336,NM_198377.2;CACNA1G,missense_variant,p.Leu1816Pro,ENST00000358244,NM_198376.2;CACNA1G,missense_variant,p.Leu1850Pro,ENST00000507510,NM_198385.2;CACNA1G,missense_variant,p.Leu1839Pro,ENST00000515765,NM_198380.2;CACNA1G,missense_variant,p.Leu1832Pro,ENST00000515411,NM_001256324.1;CACNA1G,missense_variant,p.Leu1827Pro,ENST00000502264,NM_198383.2;CACNA1G,missense_variant,p.Leu1816Pro,ENST00000510115,NM_198379.2;CACNA1G,missense_variant,p.Leu1857Pro,ENST00000514079,NM_001256325.1;CACNA1G,missense_variant,p.Leu1805Pro,ENST00000513689,NM_001256326.1;CACNA1G,missense_variant,p.Leu1850Pro,ENST00000515165,NM_198384.2;CACNA1G,missense_variant,p.Leu1843Pro,ENST00000507609,NM_001256327.1;CACNA1G,missense_variant,p.Leu1839Pro,ENST00000512389,NM_198378.2;CACNA1G,missense_variant,p.Leu1825Pro,ENST00000514181,NM_001256328.1;CACNA1G,missense_variant,p.Leu1816Pro,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,missense_variant,p.Leu1805Pro,ENST00000513964,NM_001256360.1,NM_001256361.1,NM_001256330.1;CACNA1G,missense_variant,p.Leu1798Pro,ENST00000510366,NM_001256331.1;CACNA1G,missense_variant,p.Leu1793Pro,ENST00000514717,NM_001256332.1;CACNA1G,missense_variant,p.Leu1850Pro,ENST00000505165,NM_001256333.1;CACNA1G,missense_variant,p.Leu1839Pro,ENST00000507896,NM_001256334.1;CACNA1G,3_prime_UTR_variant,,ENST00000506406,;CACNA1G,3_prime_UTR_variant,,ENST00000504076,;CACNA1G,3_prime_UTR_variant,,ENST00000511765,;CACNA1G,3_prime_UTR_variant,,ENST00000503436,;CACNA1G,3_prime_UTR_variant,,ENST00000511768,;CACNA1G,3_prime_UTR_variant,,ENST00000503607,;	C	ENST00000359106	Transcript	missense_variant	5549/7648	5549/7134	1850/2377	L/P	cTg/cCg		1		1	CACNA1G	HGNC	HGNC:1394	protein_coding	YES	CCDS45730.1	ENSP00000352011	O43497		UPI000012727A	NM_018896.4	deleterious(0)		33/38		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	50618776	50618776	T	C	1	0	0	0	0	1	0	0	0	2232	1580	55	5		5	CACNA1G	17	50618776	Missense_Mutation	SNP	T	11LU022_TP	6061018	50618776	32638665	852	1524											
MSI2	0	.	GRCh38	chr17	57675020	57675020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccgggggccaacagcccagGacctgtcgccgatctctacg	7	5	12	17	4	1	0	0	0	1	0	3	2	1	1	5	3	3	0	5	3	2	1	novel		11LU022_TP	11LU022_NB	G	G																c.839G>T	p.Gly280Val	p.G280V	ENST00000284073	12/14	191	169	22	183	183	0	strelka-varscan-mutect	MSI2,missense_variant,p.Gly280Val,ENST00000284073,NM_138962.2;MSI2,missense_variant,p.Gly276Val,ENST00000416426,;MSI2,missense_variant,p.Gly219Val,ENST00000442934,;MSI2,non_coding_transcript_exon_variant,,ENST00000579505,;MSI2,non_coding_transcript_exon_variant,,ENST00000579466,;	T	ENST00000284073	Transcript	missense_variant	1048/6364	839/987	280/328	G/V	gGa/gTa		1		1	MSI2	HGNC	HGNC:18585	protein_coding	YES	CCDS11596.1	ENSP00000284073	Q96DH6		UPI0000070D73	NM_138962.2	deleterious(0)		12/14		hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF476																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	57675020	57675020	G	T	1	0	0	0	0	1	0	0	0	9859	1174	41	2		2	MSI2	17	57675020	Missense_Mutation	SNP	G	11LU022_TP	7056244	57675020	25582421	853	1525											
MPO	0	.	GRCh38	chr17	58279524	58279524	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccccagccagccgcaccTgttgttgcacatcccggtga	7	7	9	18	2	0	1	0	1	0	0	1	1	1	1	6	1	3	4	6	1	0	2	novel		11LU022_TP	11LU022_NB	T	T																c.547A>G	p.Arg183Gly	p.R183G	ENST00000225275	4/12	280	264	16	303	303	0	strelka-varscan-mutect	MPO,missense_variant,p.Arg183Gly,ENST00000225275,NM_000250.1;MPO,upstream_gene_variant,,ENST00000578493,;MPO,downstream_gene_variant,,ENST00000580005,;MPO,upstream_gene_variant,,ENST00000581022,;	C	ENST00000225275	Transcript	missense_variant,splice_region_variant	724/3215	547/2238	183/745	R/G	Aga/Gga		1		-1	MPO	HGNC	HGNC:7218	protein_coding	YES	CCDS11604.1	ENSP00000225275	P05164		UPI0000131634	NM_000250.1	deleterious(0.01)		4/12		PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF49,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	58279524	58279524	T	C	1	0	0	0	0	1	0	0	0	9698	1594	55	5		5	MPO	17	58279524	Missense_Mutation	SNP	T	11LU022_TP	604504	58279524	24977917	854	1526											
TSPOAP1	0	.	GRCh38	chr17	58308904	58308904	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagtccagtcctggggccCtcaattacggggaggccacc	7	8	12	14	1	2	0	1	0	1	0	4	1	4	1	5	5	1	0	5	5	3	2	novel		11LU022_TP	11LU022_NB	C	C																c.4368G>T	p.Glu1456Asp	p.E1456D	ENST00000343736	22/32	63	39	24	60	60	0	strelka-varscan-mutect	TSPOAP1,missense_variant,p.Glu1396Asp,ENST00000268893,NM_024418.2;TSPOAP1,missense_variant,p.Glu1456Asp,ENST00000343736,NM_001261835.1,NM_004758.3;TSPOAP1,intron_variant,,ENST00000582679,;TSPOAP1,upstream_gene_variant,,ENST00000581675,;TSPOAP1,upstream_gene_variant,,ENST00000580669,;TSPOAP1,upstream_gene_variant,,ENST00000581692,;TSPOAP1,upstream_gene_variant,,ENST00000578511,;TSPOAP1,upstream_gene_variant,,ENST00000577871,;TSPOAP1,upstream_gene_variant,,ENST00000578486,;TSPOAP1,downstream_gene_variant,,ENST00000585149,;	A	ENST00000343736	Transcript	missense_variant	4532/5947	4368/5574	1456/1857	E/D	gaG/gaT		1		-1	TSPOAP1	HGNC	HGNC:16831	protein_coding	YES	CCDS11605.1	ENSP00000345824	O95153		UPI000013D7E3	NM_001261835.1,NM_004758.3	tolerated(0.1)		22/32		hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF20																	MODERATE	1	SNV	1			1										PASS		rs1184635786	.												A	3	1	3	58308904	58308904	C	A	1	0	0	0	0	1	0	0	0	17163	680	24	2		2	TSPOAP1	17	58308904	Missense_Mutation	SNP	C	11LU022_TP	29380	58308904	24948537	855	1527											
NACA2	0	.	GRCh38	chr17	61591075	61591075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcctgttcttcaatccctgGtactgattcaccactatcag	9	14	5	13	0	4	1	3	1	1	0	6	1	6	1	3	1	1	2	3	1	3	5	novel		11LU022_TP	11LU022_NB	G	G																c.106C>A	p.Pro36Thr	p.P36T	ENST00000521764	1/1	396	358	38	352	351	1	strelka-varscan-mutect	NACA2,missense_variant,p.Pro36Thr,ENST00000521764,NM_199290.3;	T	ENST00000521764	Transcript	missense_variant	128/777	106/648	36/215	P/T	Cca/Aca		1		-1	NACA2	HGNC	HGNC:23290	protein_coding	YES	CCDS11630.1	ENSP00000427802	Q9H009		UPI0000070B04	NM_199290.3	deleterious(0.01)		1/1		hmmpanther:PTHR21713,hmmpanther:PTHR21713:SF2,PIRSF_domain:PIRSF015901																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	3	61591075	61591075	G	T	1	0	0	0	0	1	0	0	0	10140	1261	44	2		2	NACA2	17	61591075	Missense_Mutation	SNP	G	11LU022_TP	3282171	61591075	21666366	856	1528											
BRIP1	0	.	GRCh38	chr17	61776532	61776532	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacagagattccgaccctTggggcctgacccaatggtac	10	7	11	13	1	0	2	0	1	0	1	1	4	1	2	4	3	2	2	4	3	2	3	novel		11LU022_TP	11LU022_NB	T	T																c.1966A>T	p.Lys656Ter	p.K656*	ENST00000259008	14/20	319	274	45	289	289	0	strelka-varscan-mutect	BRIP1,stop_gained,p.Lys656Ter,ENST00000259008,NM_032043.2;BRIP1,stop_gained,p.Lys656Ter,ENST00000577598,;BRIP1,upstream_gene_variant,,ENST00000584322,;BRIP1,non_coding_transcript_exon_variant,,ENST00000583837,;BRIP1,3_prime_UTR_variant,,ENST00000579028,;	A	ENST00000259008	Transcript	stop_gained	2234/6048	1966/3750	656/1249	K/*	Aag/Tag		1		-1	BRIP1	HGNC	HGNC:20473	protein_coding	YES	CCDS11631.1	ENSP00000259008	Q9BX63	A0A024QZ45	UPI000013D01F	NM_032043.2			14/20		hmmpanther:PTHR11472:SF6,hmmpanther:PTHR11472,TIGRFAM_domain:TIGR00604,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	3	61776532	61776532	T	A	1	0	0	0	0	0	1	0	0	1688	1821	63	4		4	BRIP1	17	61776532	Nonsense_Mutation	SNP	T	11LU022_TP	185457	61776532	21480909	857	1529											
INTS2	0	.	GRCh38	chr17	61867595	61867595	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catatttattatttcaattaCtgttctttcaatacagtgac	12	19	3	7	0	3	1	2	1	1	0	3	1	3	1	0	0	2	1	0	0	7	9	novel		11LU022_TP	11LU022_NB	C	C																c.3577G>T	p.Val1193Leu	p.V1193L	ENST00000444766	25/25	84	52	32	104	104	0	strelka-varscan-mutect	INTS2,missense_variant,p.Val1193Leu,ENST00000444766,NM_020748.2;INTS2,missense_variant,p.Val1193Leu,ENST00000617492,;INTS2,missense_variant,p.Val1185Leu,ENST00000251334,;BRIP1,upstream_gene_variant,,ENST00000259008,NM_032043.2;BRIP1,upstream_gene_variant,,ENST00000577913,;INTS2,downstream_gene_variant,,ENST00000583822,;	A	ENST00000444766	Transcript	missense_variant	3653/5878	3577/3615	1193/1204	V/L	Gta/Tta		1		-1	INTS2	HGNC	HGNC:29241	protein_coding	YES	CCDS45750.1	ENSP00000414237	Q9H0H0		UPI0000E5A03A	NM_020748.2	tolerated_low_confidence(0.21)		25/25		hmmpanther:PTHR28608																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	61867595	61867595	C	A	1	0	0	0	0	1	0	0	0	7680	565	20	2		2	INTS2	17	61867595	Missense_Mutation	SNP	C	11LU022_TP	91063	61867595	21389846	858	1530			1	2		3	3	405	N	T_C	9.149034e-05
INTS2	0	.	GRCh38	chr17	61867705	61867705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgagaccatccacttggtTtctcctttatttgttgaaga	8	18	7	8	0	1	3	0	2	1	2	3	4	2	3	3	1	0	2	3	1	2	7	novel		11LU022_TP	11LU022_NB	T	T																c.3467A>G	p.Lys1156Arg	p.K1156R	ENST00000444766	25/25	59	51	8	72	72	0	strelka-varscan-mutect	INTS2,missense_variant,p.Lys1156Arg,ENST00000444766,NM_020748.2;INTS2,missense_variant,p.Lys1156Arg,ENST00000617492,;INTS2,missense_variant,p.Lys1148Arg,ENST00000251334,;BRIP1,upstream_gene_variant,,ENST00000259008,NM_032043.2;BRIP1,upstream_gene_variant,,ENST00000577913,;INTS2,downstream_gene_variant,,ENST00000583822,;	C	ENST00000444766	Transcript	missense_variant	3543/5878	3467/3615	1156/1204	K/R	aAa/aGa		1		-1	INTS2	HGNC	HGNC:29241	protein_coding	YES	CCDS45750.1	ENSP00000414237	Q9H0H0		UPI0000E5A03A	NM_020748.2	tolerated_low_confidence(0.09)		25/25		hmmpanther:PTHR28608																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	61867705	61867705	T	C	1	0	0	0	0	1	0	0	0	7680	1841	64	5		5	INTS2	17	61867705	Missense_Mutation	SNP	T	11LU022_TP	110	61867705	21389736	859	1531			1	2		3	3	405	N	T_C	9.149034e-05
INTS2	0	.	GRCh38	chr17	61867999	61867999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaagcataccgcttagcCtgtgttaaaactgttggaaa	16	10	8	7	1	0	0	0	0	0	0	0	1	0	1	2	1	4	4	2	1	8	4	novel		11LU022_TP	11LU022_NB	C	C																c.3279G>T	p.Gln1093His	p.Q1093H	ENST00000444766	24/25	79	51	28	62	62	0	strelka-varscan-mutect	INTS2,missense_variant,p.Gln1093His,ENST00000444766,NM_020748.2;INTS2,missense_variant,p.Gln1093His,ENST00000617492,;INTS2,missense_variant,p.Gln1085His,ENST00000251334,;BRIP1,upstream_gene_variant,,ENST00000259008,NM_032043.2;BRIP1,upstream_gene_variant,,ENST00000577913,;INTS2,downstream_gene_variant,,ENST00000583822,;	A	ENST00000444766	Transcript	missense_variant	3355/5878	3279/3615	1093/1204	Q/H	caG/caT		1		-1	INTS2	HGNC	HGNC:29241	protein_coding	YES	CCDS45750.1	ENSP00000414237	Q9H0H0		UPI0000E5A03A	NM_020748.2	deleterious(0.02)		24/25		Pfam_domain:PF14750,hmmpanther:PTHR28608																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	61867999	61867999	C	A	1	0	0	0	0	1	0	0	0	7680	680	24	2		2	INTS2	17	61867999	Missense_Mutation	SNP	C	11LU022_TP	294	61867999	21389442	860	1532			1	2		3	3	405	N	T_C	9.149034e-05
MED13	0	.	GRCh38	chr17	61961080	61961080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgcataaagtcgaataCactctggtctctataaaata	15	11	8	7	1	2	0	0	0	2	0	4	2	2	0	0	2	2	1	0	2	8	5	novel		11LU022_TP	11LU022_NB	C	C																c.5267G>C	p.Cys1756Ser	p.C1756S	ENST00000397786	23/30	181	110	71	173	173	0	strelka-varscan-mutect	MED13,missense_variant,p.Cys1756Ser,ENST00000397786,NM_005121.2;	G	ENST00000397786	Transcript	missense_variant	5344/10465	5267/6525	1756/2174	C/S	tGt/tCt		1		-1	MED13	HGNC	HGNC:22474	protein_coding	YES	CCDS42366.1	ENSP00000380888	Q9UHV7	A0A024QZ75	UPI0000D7D6F6	NM_005121.2	tolerated(0.76)		23/30		hmmpanther:PTHR10791:SF51,hmmpanther:PTHR10791,Pfam_domain:PF06333																	MODERATE	1	SNV	1			1										PASS		rs1366271673	.												G	3	3	3	61961080	61961080	C	G	1	0	0	0	0	1	0	0	0	9369	478	17	4		4	MED13	17	61961080	Missense_Mutation	SNP	C	11LU022_TP	93081	61961080	21296361	861	1533											
MED13	0	.	GRCh38	chr17	62033946	62033946	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatcttgaatgcctgtcCtgtgagagtgccatttagtc	9	13	10	9	0	1	3	0	2	1	2	3	4	2	3	3	0	2	0	3	0	2	3	novel		11LU022_TP	11LU022_NB	C	C																c.655G>C	p.Gly219Arg	p.G219R	ENST00000397786	5/30	212	137	75	220	220	0	strelka-varscan-mutect	MED13,missense_variant,p.Gly219Arg,ENST00000397786,NM_005121.2;MED13,upstream_gene_variant,,ENST00000583958,;Y_RNA,upstream_gene_variant,,ENST00000363972,;MED13,upstream_gene_variant,,ENST00000580896,;MED13,upstream_gene_variant,,ENST00000581994,;MED13,upstream_gene_variant,,ENST00000578132,;	G	ENST00000397786	Transcript	missense_variant	732/10465	655/6525	219/2174	G/R	Gga/Cga		1		-1	MED13	HGNC	HGNC:22474	protein_coding	YES	CCDS42366.1	ENSP00000380888	Q9UHV7	A0A024QZ75	UPI0000D7D6F6	NM_005121.2	deleterious(0)		5/30		hmmpanther:PTHR10791:SF51,hmmpanther:PTHR10791,Pfam_domain:PF11597																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	62033946	62033946	C	G	1	0	0	0	0	1	0	0	0	9369	690	24	4		4	MED13	17	62033946	Missense_Mutation	SNP	C	11LU022_TP	72866	62033946	21223495	862	1534											
MAP3K3	0	.	GRCh38	chr17	63692381	63692381	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggatgagccctgaggtGatcagcggcgagggctatgg	8	8	17	8	2	1	3	1	3	0	0	1	5	1	4	1	5	3	1	1	5	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.1707G>T	p.=	p.V569V	ENST00000361357	16/17	165	147	18	166	166	0	strelka-varscan-mutect	MAP3K3,synonymous_variant,p.=,ENST00000361357,NM_203351.1;MAP3K3,synonymous_variant,p.=,ENST00000361733,NM_002401.3;MAP3K3,synonymous_variant,p.=,ENST00000579585,;MAP3K3,synonymous_variant,p.=,ENST00000584573,;MAP3K3,synonymous_variant,p.=,ENST00000577395,;LIMD2,downstream_gene_variant,,ENST00000259006,NM_030576.3;MAP3K3,downstream_gene_variant,,ENST00000577784,;MAP3K3,3_prime_UTR_variant,,ENST00000577597,;MAP3K3,downstream_gene_variant,,ENST00000585302,;MAP3K3,downstream_gene_variant,,ENST00000577839,;MAP3K3,downstream_gene_variant,,ENST00000581732,;MAP3K3,downstream_gene_variant,,ENST00000578622,;	T	ENST00000361357	Transcript	synonymous_variant	2025/4818	1707/1974	569/657	V	gtG/gtT		1		1	MAP3K3	HGNC	HGNC:6855	protein_coding	YES	CCDS32701.1	ENSP00000354927	Q99759		UPI0000074003	NM_203351.1			16/17		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF350,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	63692381	63692381	G	T	1	0	0	0	0	0	0	0	1	9174	1277	45	2		2	MAP3K3	17	63692381	Silent	SNP	G	11LU022_TP	1658435	63692381	19565060	863	1535											
HELZ	0	.	GRCh38	chr17	67136164	67136164	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacaagtatgtcttgtacgTactgtgctaagaaacaaaac	15	12	7	7	1	1	1	0	0	1	1	1	1	1	1	0	0	6	4	0	0	9	6	novel		11LU022_TP	11LU022_NB	T	T																c.2988A>C	p.=	p.V996V	ENST00000358691	23/33	144	130	14	152	152	0	strelka-varscan-mutect	HELZ,synonymous_variant,p.=,ENST00000358691,NM_014877.3;HELZ,synonymous_variant,p.=,ENST00000580168,;HELZ,synonymous_variant,p.=,ENST00000579953,;	G	ENST00000358691	Transcript	synonymous_variant	3155/13810	2988/5829	996/1942	V	gtA/gtC		1		-1	HELZ	HGNC	HGNC:16878	protein_coding	YES	CCDS42374.1	ENSP00000351524	P42694		UPI000013D7F5	NM_014877.3			23/33		Gene3D:3.40.50.300,Pfam_domain:PF13087,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF365,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	3	67136164	67136164	T	G	1	0	0	0	0	0	0	0	1	6931	1625	57	5		5	HELZ	17	67136164	Silent	SNP	T	11LU022_TP	3443783	67136164	16121277	864	1536											
BPTF	0	.	GRCh38	chr17	67854647	67854647	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagcacacaaggtgcctGgtgtgactgactgtgttgct	7	12	14	8	0	0	2	0	2	0	0	0	2	0	2	1	2	3	4	1	2	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.1321G>C	p.Gly441Arg	p.G441R	ENST00000306378	2/28	263	236	27	267	267	0	strelka-varscan-mutect	BPTF,missense_variant,p.Gly441Arg,ENST00000321892,NM_004459.6;BPTF,missense_variant,p.Gly441Arg,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Gly302Arg,ENST00000424123,;BPTF,missense_variant,p.Gly441Arg,ENST00000544778,;BPTF,missense_variant,p.Gly302Arg,ENST00000335221,;	C	ENST00000306378	Transcript	missense_variant	1381/9688	1321/8763	441/2920	G/R	Ggt/Cgt		1		1	BPTF	HGNC	HGNC:3581	protein_coding	YES	CCDS11673.1	ENSP00000307208	Q12830		UPI00002263BF	NM_182641.3	deleterious(0)		2/28		Gene3D:3.30.40.10,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF5,Superfamily_domains:SSF57903																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	67854647	67854647	G	C	1	0	0	0	0	1	0	0	0	1664	1348	47	4		4	BPTF	17	67854647	Missense_Mutation	SNP	G	11LU022_TP	718483	67854647	15402794	865	1537											
KIF19	0	.	GRCh38	chr17	74347812	74347812	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacagccgcacagtgatgatCgctcacatcagtcctgcgag	11	7	10	13	3	2	2	2	2	0	0	4	3	3	2	2	0	3	2	2	0	1	0	rs766695819		11LU022_TP	11LU022_NB	C	C																c.960C>T	p.=	p.I320I	ENST00000389916	9/20	173	150	23	230	230	0	strelka-varscan-mutect	KIF19,synonymous_variant,p.=,ENST00000389916,NM_153209.3;KIF19,synonymous_variant,p.=,ENST00000551294,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;KIF19,upstream_gene_variant,,ENST00000549637,;	T	ENST00000389916	Transcript	synonymous_variant	1098/3643	960/2997	320/998	I	atC/atT	rs766695819	1		1	KIF19	HGNC	HGNC:26735	protein_coding	YES	CCDS32718.2	ENSP00000374566	Q2TAC6		UPI0000F0A553	NM_153209.3			9/20		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF434,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		rs766695819	.												T	2	4	3	74347812	74347812	C	T	1	0	0	0	0	0	0	0	1	8146	874	31	1		1	KIF19	17	74347812	Silent	SNP	C	11LU022_TP	6493165	74347812	8909629	866	1538											
KIF19	0	.	GRCh38	chr17	74347859	74347859	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcgaggagtcccggaacaCcctgacctacgccggccggg	7	5	13	16	5	0	1	0	1	0	0	2	4	1	3	5	4	2	0	5	4	2	2			11LU022_TP	11LU022_NB	C	C																c.1007C>A	p.Thr336Asn	p.T336N	ENST00000389916	9/20	173	128	45	239	238	1	strelka-varscan-mutect	KIF19,missense_variant,p.Thr336Asn,ENST00000389916,NM_153209.3;KIF19,missense_variant,p.Thr294Asn,ENST00000551294,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;KIF19,upstream_gene_variant,,ENST00000549637,;	A	ENST00000389916	Transcript	missense_variant	1145/3643	1007/2997	336/998	T/N	aCc/aAc	COSM1710734	1		1	KIF19	HGNC	HGNC:26735	protein_coding	YES	CCDS32718.2	ENSP00000374566	Q2TAC6		UPI0000F0A553	NM_153209.3	deleterious(0)		9/20		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF434,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	3	74347859	74347859	C	A	1	0	0	0	0	1	0	0	0	8146	507	18	2		2	KIF19	17	74347859	Missense_Mutation	SNP	C	11LU022_TP	47	74347859	8909582	867	1539											
KIF19	0	.	GRCh38	chr17	74354302	74354302	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctgcactcactgagcGagggcgacgatgcgcggcca	7	6	14	14	5	1	1	1	1	0	0	2	4	2	1	2	2	3	1	2	2	0	0	rs771403100		11LU022_TP	11LU022_NB	G	G																c.2449G>T	p.Glu817Ter	p.E817*	ENST00000389916	18/20	177	161	16	222	221	1	strelka-varscan-mutect	KIF19,stop_gained,p.Glu817Ter,ENST00000389916,NM_153209.3;KIF19,downstream_gene_variant,,ENST00000551294,;BTBD17,downstream_gene_variant,,ENST00000375366,NM_001080466.1;KIF19,downstream_gene_variant,,ENST00000547389,;KIF19,downstream_gene_variant,,ENST00000359939,;KIF19,downstream_gene_variant,,ENST00000549637,;	T	ENST00000389916	Transcript	stop_gained	2587/3643	2449/2997	817/998	E/*	Gag/Tag	rs771403100	1		1	KIF19	HGNC	HGNC:26735	protein_coding	YES	CCDS32718.2	ENSP00000374566	Q2TAC6		UPI0000F0A553	NM_153209.3			18/20																			HIGH		SNV	5			1										PASS		rs771403100	.												T	4	4	3	74354302	74354302	G	T	1	0	0	0	0	0	1	0	0	8146	1059	37	1		1	KIF19	17	74354302	Nonsense_Mutation	SNP	G	11LU022_TP	6443	74354302	8903139	868	1540											
USH1G	0	.	GRCh38	chr17	74919512	74919512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccgccgcctcctcacggCccccaagatcttctttcggg	4	9	9	19	4	3	1	1	0	2	1	5	1	4	1	6	2	1	0	6	2	1	2	novel		11LU022_TP	11LU022_NB	C	C																c.1324G>T	p.Ala442Ser	p.A442S	ENST00000614341	2/3	155	99	56	223	220	3	strelka-varscan-mutect	USH1G,missense_variant,p.Ala442Ser,ENST00000614341,NM_001282489.2,NM_173477.4;OTOP2,upstream_gene_variant,,ENST00000331427,NM_178160.2;USH1G,3_prime_UTR_variant,,ENST00000579243,;OTOP2,upstream_gene_variant,,ENST00000584711,;	A	ENST00000614341	Transcript	missense_variant	1507/3558	1324/1386	442/461	A/S	Gcc/Tcc		1		-1	USH1G	HGNC	HGNC:16356	protein_coding	YES	CCDS32725.1	ENSP00000480279	Q495M9		UPI00001BC010	NM_001282489.2,NM_173477.4	deleterious(0.02)		2/3		hmmpanther:PTHR24161:SF24,hmmpanther:PTHR24161,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,Superfamily_domains:SSF47769																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	74919512	74919512	C	A	1	0	0	0	0	1	0	0	0	17569	739	26	2		2	USH1G	17	74919512	Missense_Mutation	SNP	C	11LU022_TP	565210	74919512	8337929	869	1541											
CDR2L	0	.	GRCh38	chr17	75001380	75001380	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acacgctgcggcacgtgaacGagcagcacgccaaagtctat	12	5	11	13	5	1	1	0	1	1	0	1	2	1	1	1	1	4	4	1	1	3	1	rs764486501		11LU022_TP	11LU022_NB	G	G																c.232G>C	p.Glu78Gln	p.E78Q	ENST00000337231	3/5	92	64	28	113	113	0	strelka-varscan-mutect	CDR2L,missense_variant,p.Glu78Gln,ENST00000337231,NM_014603.2;	C	ENST00000337231	Transcript	missense_variant	644/3536	232/1398	78/465	E/Q	Gag/Cag	rs764486501,COSM5528510	1		1	CDR2L	HGNC	HGNC:29999	protein_coding	YES	CCDS11710.2	ENSP00000336587	Q86X02	A0A024R8R6	UPI00005AE46D	NM_014603.2	deleterious(0.01)		3/5		hmmpanther:PTHR19232:SF10,hmmpanther:PTHR19232											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs764486501	.												C	3	2	3	75001380	75001380	G	C	1	0	0	0	0	1	0	0	0	2878	1059	37	4		4	CDR2L	17	75001380	Missense_Mutation	SNP	G	11LU022_TP	81868	75001380	8256061	870	1542											
SEPT9	0	.	GRCh38	chr17	77475598	77475598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccccagggtctggattcagGggagcctgcagagggagggc	7	5	19	10	0	2	1	1	0	1	1	2	4	2	4	3	6	2	1	3	6	0	1	novel		11LU022_TP	11LU022_NB	G	G																c.80G>T	p.Gly27Val	p.G27V	ENST00000427180	1/10	313	206	107	361	361	0	strelka-varscan-mutect	SEPT9,missense_variant,p.Gly27Val,ENST00000427180,NM_001113495.1;SEPT9,intron_variant,,ENST00000329047,NM_006640.4;SEPT9,intron_variant,,ENST00000431235,;SEPT9,intron_variant,,ENST00000449803,NM_001113492.1;SEPT9,intron_variant,,ENST00000423034,NM_001113493.1;SEPT9,intron_variant,,ENST00000427674,NM_001113494.1;SEPT9,intron_variant,,ENST00000427177,NM_001113491.1;SEPT9,intron_variant,,ENST00000541152,NM_001113496.1;SEPT9,intron_variant,,ENST00000588690,;SEPT9,intron_variant,,ENST00000590294,;SEPT9,intron_variant,,ENST00000592420,;SEPT9,intron_variant,,ENST00000591198,NM_001293695.1;SEPT9,intron_variant,,ENST00000592951,NM_001293698.1;SEPT9,intron_variant,,ENST00000591088,NM_001293697.1;SEPT9,intron_variant,,ENST00000585930,NM_001293696.1;SEPT9,intron_variant,,ENST00000585929,;SEPT9,intron_variant,,ENST00000588958,;SEPT9,intron_variant,,ENST00000593189,;SEPT9,intron_variant,,ENST00000586128,;SEPT9,intron_variant,,ENST00000591704,;SEPT9,intron_variant,,ENST00000590059,;SEPT9,intron_variant,,ENST00000590938,;SEPT9,intron_variant,,ENST00000586521,;SEPT9,intron_variant,,ENST00000591020,;SEPT9,intron_variant,,ENST00000586433,;SEPT9,intron_variant,,ENST00000591472,;SEPT9,intron_variant,,ENST00000590917,;RP11-75C10.9,upstream_gene_variant,,ENST00000591110,;RP11-75C10.7,downstream_gene_variant,,ENST00000585369,;SEPT9,intron_variant,,ENST00000592481,;SEPT9,intron_variant,,ENST00000588575,;	T	ENST00000427180	Transcript	missense_variant	356/3635	80/1425	27/474	G/V	gGg/gTg		1		1	SEPT9	HGNC	HGNC:7323	protein_coding		CCDS45794.1	ENSP00000415624	Q9UHD8		UPI0000E5A0D3	NM_001113495.1			1/10																			MODERATE		SNV	2			1										PASS		.	.												T	3	4	3	77475598	77475598	G	T	1	0	0	0	0	1	0	0	0	14347	1232	43	2		2	SEPT9	17	77475598	Missense_Mutation	SNP	G	11LU022_TP	2474218	77475598	5781843	871	1543											
SEPT9	0	.	GRCh38	chr17	77497345	77497345	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacacactgtgagtttgcctAcctgcgggaccttctcatca	8	11	8	14	1	2	1	2	1	1	0	3	2	2	2	3	1	3	1	3	1	1	3	novel		11LU022_TP	11LU022_NB	A	A																c.1604A>G	p.Tyr535Cys	p.Y535C	ENST00000427177	11/12	383	355	28	429	429	0	strelka-varscan-mutect	SEPT9,missense_variant,p.Tyr517Cys,ENST00000329047,NM_006640.4;SEPT9,missense_variant,p.Tyr371Cys,ENST00000431235,;SEPT9,missense_variant,p.Tyr371Cys,ENST00000449803,NM_001113492.1;SEPT9,missense_variant,p.Tyr528Cys,ENST00000423034,NM_001113493.1;SEPT9,missense_variant,p.Tyr371Cys,ENST00000427674,NM_001113494.1;SEPT9,missense_variant,p.Tyr535Cys,ENST00000427177,NM_001113491.1;SEPT9,missense_variant,p.Tyr423Cys,ENST00000427180,NM_001113495.1;SEPT9,missense_variant,p.Tyr284Cys,ENST00000541152,NM_001113496.1;SEPT9,missense_variant,p.Tyr371Cys,ENST00000588690,;SEPT9,missense_variant,p.Tyr517Cys,ENST00000590294,;SEPT9,missense_variant,p.Tyr516Cys,ENST00000591198,NM_001293695.1;SEPT9,missense_variant,p.Tyr284Cys,ENST00000592951,NM_001293698.1;SEPT9,missense_variant,p.Tyr284Cys,ENST00000591088,NM_001293697.1;SEPT9,missense_variant,p.Tyr311Cys,ENST00000585930,NM_001293696.1;SEPT9,downstream_gene_variant,,ENST00000592481,;SEPT9,non_coding_transcript_exon_variant,,ENST00000589246,;SEPT9,non_coding_transcript_exon_variant,,ENST00000586456,;SEPT9,downstream_gene_variant,,ENST00000589250,;	G	ENST00000427177	Transcript	missense_variant	1730/3821	1604/1761	535/586	Y/C	tAc/tGc		1		1	SEPT9	HGNC	HGNC:7323	protein_coding	YES	CCDS45790.1	ENSP00000391249	Q9UHD8		UPI00001AF955	NM_001113491.1	deleterious(0.01)		11/12		PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF47,Pfam_domain:PF00735,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	77497345	77497345	A	G	1	0	0	0	0	1	0	0	0	14347	391	14	5		5	SEPT9	17	77497345	Missense_Mutation	SNP	A	11LU022_TP	21747	77497345	5760096	872	1544											
DNAH17	0	.	GRCh38	chr17	78525138	78525138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcctccatgatgccttcCatggcggagatgctcttttg	6	12	11	12	2	1	2	0	1	1	1	3	3	3	2	4	2	3	1	4	2	0	3	novel		11LU022_TP	11LU022_NB	C	C																c.3735G>T	p.Met1245Ile	p.M1245I	ENST00000389840	25/81	137	83	54	143	143	0	strelka-varscan-mutect	DNAH17,missense_variant,p.Met1245Ile,ENST00000389840,NM_173628.3;DNAH17,missense_variant,p.Met1242Ile,ENST00000585328,;RP11-559N14.6,downstream_gene_variant,,ENST00000587621,;	A	ENST00000389840	Transcript	missense_variant	3860/13723	3735/13389	1245/4462	M/I	atG/atT		1		-1	DNAH17	HGNC	HGNC:2946	protein_coding	YES		ENSP00000374490	Q9UFH2		UPI0001B25601	NM_173628.3	tolerated(0.12)		25/81		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF284																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	78525138	78525138	C	A	1	0	0	0	0	1	0	0	0	4416	594	21	2		2	DNAH17	17	78525138	Missense_Mutation	SNP	C	11LU022_TP	1027793	78525138	4732303	873	1545											
DNAH17	0	.	GRCh38	chr17	78571629	78571629	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggttcagcagccgagtgtcCcagaactcgaactccacttg	10	8	10	13	2	1	1	1	0	0	1	4	3	3	1	3	1	4	2	3	1	2	2	novel		11LU022_TP	11LU022_NB	C	C																c.693G>C	p.Trp231Cys	p.W231C	ENST00000389840	4/81	313	293	20	311	311	0	strelka-varscan-mutect	DNAH17,missense_variant,p.Trp231Cys,ENST00000389840,NM_173628.3;DNAH17,missense_variant,p.Trp231Cys,ENST00000585328,;DNAH17,upstream_gene_variant,,ENST00000589793,;	G	ENST00000389840	Transcript	missense_variant	818/13723	693/13389	231/4462	W/C	tgG/tgC		1		-1	DNAH17	HGNC	HGNC:2946	protein_coding	YES		ENSP00000374490	Q9UFH2		UPI0001B25601	NM_173628.3	deleterious(0)		4/81		Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF284																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	3	78571629	78571629	C	G	1	0	0	0	0	1	0	0	0	4416	624	22	4		4	DNAH17	17	78571629	Missense_Mutation	SNP	C	11LU022_TP	46491	78571629	4685812	874	1546											
CCDC40	0	.	GRCh38	chr17	80099558	80099558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgtggccctgcagacacGccttaagcacctgcaggctg	8	7	12	14	2	0	1	0	0	0	1	1	2	0	1	3	2	3	4	3	2	1	1	rs142135083		11LU022_TP	11LU022_NB	G	G																c.3212G>T	p.Arg1071Leu	p.R1071L	ENST00000397545	20/20	419	388	31	457	457	0	strelka-varscan-mutect	CCDC40,missense_variant,p.Arg1071Leu,ENST00000397545,NM_017950.3;GAA,upstream_gene_variant,,ENST00000302262,NM_000152.3;GAA,upstream_gene_variant,,ENST00000390015,NM_001079803.1,NM_001079804.1;GAA,upstream_gene_variant,,ENST00000570803,;GAA,upstream_gene_variant,,ENST00000577106,;MIR1268B,downstream_gene_variant,,ENST00000579691,;GAA,upstream_gene_variant,,ENST00000574376,;CCDC40,non_coding_transcript_exon_variant,,ENST00000574799,;CCDC40,downstream_gene_variant,,ENST00000572253,;CCDC40,downstream_gene_variant,,ENST00000575431,;	T	ENST00000397545	Transcript	missense_variant	3239/4294	3212/3429	1071/1142	R/L	cGc/cTc	rs142135083	1		1	CCDC40	HGNC	HGNC:26090	protein_coding	YES	CCDS42395.1	ENSP00000380679	Q4G0X9		UPI0000201739	NM_017950.3	deleterious(0)		20/20		hmmpanther:PTHR16275																	MODERATE		SNV	5			1										PASS		rs142135083	.												T	3	4	3	80099558	80099558	G	T	1	0	0	0	0	1	0	0	0	2521	1087	38	1		1	CCDC40	17	80099558	Missense_Mutation	SNP	G	11LU022_TP	1527929	80099558	3157883	875	1547											
RNF213	0	.	GRCh38	chr17	80393354	80393357	+	Frame_Shift_Del	DEL	CACT	CACT	-																															tggtttttcagcctgagagaCactctcgtaagttacatgca																								novel		11LU022_TP	11LU022_NB	CACT	CACT																c.15481_15484delACTC	p.Thr5161SerfsTer2	p.T5161Sfs*2	ENST00000582970	68/68	365	327	38	458	458	0	sindel-varindel-pindel	RNF213,frameshift_variant,p.Thr5161SerfsTer2,ENST00000582970,NM_001256071.2;RNF213,frameshift_variant,p.Thr5210SerfsTer2,ENST00000508628,;CTD-2047H16.4,intron_variant,,ENST00000575034,;CTD-2047H16.4,intron_variant,,ENST00000572151,;CTD-2047H16.4,intron_variant,,ENST00000573394,;RNF213,non_coding_transcript_exon_variant,,ENST00000427003,;RNF213,non_coding_transcript_exon_variant,,ENST00000411702,;RNF213,non_coding_transcript_exon_variant,,ENST00000560083,;RNF213,downstream_gene_variant,,ENST00000573919,;	-	ENST00000582970	Transcript	frameshift_variant	15623-15626/21055	15480-15483/15624	5160-5161/5207	DT/X	gaCACT/ga		1		1	RNF213	HGNC	HGNC:14539	protein_coding	YES	CCDS58606.1	ENSP00000464087		A0A0A0MTR7	UPI00043788D6	NM_001256071.2			68/68		hmmpanther:PTHR22605:SF5,hmmpanther:PTHR22605																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	3	80393354	80393354	CACT	-	1	0	1	0	1	0	0	0	0	13656	477	17	0		0	RNF213	17	80393354	Frame_Shift_Del	DEL	CACT	11LU022_TP	293796	80393354	2864087	876	1548											
BAHCC1	0	.	GRCh38	chr17	81452729	81452729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcggcccccaggagagaCgagagttcacggagccctgc	8	4	14	15	3	1	2	1	0	0	2	1	6	1	4	4	3	3	1	4	3	0	1	rs782729211		11LU022_TP	11LU022_NB	C	C																c.4416C>A	p.Asp1472Glu	p.D1472E	ENST00000584436	15/29	111	103	8	140	140	0	strelka-varscan-mutect	BAHCC1,missense_variant,p.Asp1472Glu,ENST00000584436,NM_001291324.1;BAHCC1,missense_variant,p.Asp1441Glu,ENST00000307745,;MIR3186,upstream_gene_variant,,ENST00000577404,;BAHCC1,upstream_gene_variant,,ENST00000584330,;	A	ENST00000584436	Transcript	missense_variant	4783/10801	4416/7920	1472/2639	D/E	gaC/gaA	rs782729211	1		1	BAHCC1	HGNC	HGNC:29279	protein_coding	YES	CCDS74173.1	ENSP00000462154		A0A075B747	UPI0003EAE637	NM_001291324.1	tolerated(1)		15/29		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12505:SF22,hmmpanther:PTHR12505																	MODERATE	1	SNV	5			1										PASS		rs782729211	.												A	3	1	3	81452729	81452729	C	A	1	0	0	0	0	1	0	0	0	1451	535	19	1		1	BAHCC1	17	81452729	Missense_Mutation	SNP	C	11LU022_TP	1059375	81452729	1804712	877	1549											
FASN	0	.	GRCh38	chr17	82080192	82080192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagaagcatatggcctccGtctcagcctcagcctcacag	10	7	9	15	2	3	1	3	0	1	1	5	2	4	1	4	1	3	1	4	1	3	1	rs775705403		11LU022_TP	11LU022_NB	G	G																c.7094C>A	p.Thr2365Lys	p.T2365K	ENST00000306749	41/43	412	368	44	480	480	0	strelka-varscan-mutect	FASN,missense_variant,p.Thr2365Lys,ENST00000306749,NM_004104.4;FASN,missense_variant,p.Thr2363Lys,ENST00000634990,;FASN,upstream_gene_variant,,ENST00000636628,;FASN,3_prime_UTR_variant,,ENST00000580382,;FASN,non_coding_transcript_exon_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000579410,;	T	ENST00000306749	Transcript	missense_variant	7313/8565	7094/7536	2365/2511	T/K	aCg/aAg	rs775705403	1		-1	FASN	HGNC	HGNC:3594	protein_coding	YES	CCDS11801.1	ENSP00000304592	P49327		UPI000013EB82	NM_004104.4	deleterious(0.01)		41/43		Gene3D:2px6A02,Pfam_domain:PF00975,hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF280,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		rs775705403	.												T	3	4	3	82080192	82080192	G	T	1	0	0	0	0	1	0	0	0	5543	1145	40	1		1	FASN	17	82080192	Missense_Mutation	SNP	G	11LU022_TP	627463	82080192	1177249	878	1550											
LAMA1	0	.	GRCh38	chr18	6982586	6982586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgttagaaacaagggattctGagagctggaaaacagaacca	17	6	11	7	1	1	3	0	1	1	3	1	6	1	5	1	2	4	2	1	2	6	2	novel		11LU022_TP	11LU022_NB	G	G																c.5801C>T	p.Ser1934Leu	p.S1934L	ENST00000389658	41/63	522	478	44	491	491	0	strelka-varscan-mutect	LAMA1,missense_variant,p.Ser1934Leu,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	A	ENST00000389658	Transcript	missense_variant	5895/9657	5801/9228	1934/3075	S/L	tCa/tTa		1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	tolerated(0.1)		41/63		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	3	6982586	6982586	G	A	1	0	0	0	0	1	0	0	0	8509	1304	45	3		3	LAMA1	18	6982586	Missense_Mutation	SNP	G	11LU022_TP		6982586	73390699	879	1551											
LAMA1	0	.	GRCh38	chr18	7002287	7002287	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagggctgtgaggacaGgcacacagagcacagtcact	12	4	15	10	0	1	2	1	1	0	1	1	4	1	4	0	4	1	4	0	4	0	0	novel		11LU022_TP	11LU022_NB	G	G																c.4359C>A	p.=	p.A1453A	ENST00000389658	30/63	422	377	45	388	388	0	strelka-varscan-mutect	LAMA1,synonymous_variant,p.=,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	T	ENST00000389658	Transcript	synonymous_variant	4453/9657	4359/9228	1453/3075	A	gcC/gcA		1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3			30/63		Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	3	7002287	7002287	G	T	1	0	0	0	0	0	0	0	1	8509	987	35	2		2	LAMA1	18	7002287	Silent	SNP	G	11LU022_TP	19701	7002287	73370998	880	1552											
SLC35G4	0	.	GRCh38	chr18	11609705	11609705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccagccctctgatgccaCcaatggcctgctggtggccc	5	8	11	17	0	1	1	0	1	1	0	1	1	1	1	6	3	4	1	6	3	1	0	novel		11LU022_TP	11LU022_NB	C	C																c.110C>A	p.Thr37Asn	p.T37N	ENST00000636911	1/2	105	82	23	175	175	0	strelka-varscan-mutect	SLC35G4,missense_variant,p.Thr37Asn,ENST00000636911,;SLC35G4,missense_variant,p.Thr37Asn,ENST00000588001,NM_001282300.1;	A	ENST00000636911	Transcript	missense_variant	231/1201	110/1017	37/338	T/N	aCc/aAc		1		1	SLC35G4	HGNC	HGNC:31043	protein_coding	YES		ENSP00000489773			UPI0001AE65E0		deleterious(0.02)		1/2		hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	3	11609705	11609705	C	A	1	0	0	0	0	1	0	0	0	14868	507	18	2		2	SLC35G4	18	11609705	Missense_Mutation	SNP	C	11LU022_TP	4607418	11609705	68763580	881	1553											
CIDEA	0	.	GRCh38	chr18	12277264	12277264	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagggcaggttcacgtgTggatagggatgcaggctgtc	8	8	17	8	1	1	0	1	0	0	0	2	2	1	2	1	5	1	4	1	5	2	2	novel		11LU022_TP	11LU022_NB	T	T																c.654T>A	p.Cys218Ter	p.C218*	ENST00000320477	5/5	112	77	35	143	143	0	strelka-varscan-mutect	CIDEA,stop_gained,p.Cys218Ter,ENST00000320477,NM_001279.3;CIDEA,non_coding_transcript_exon_variant,,ENST00000521296,;CIDEA,non_coding_transcript_exon_variant,,ENST00000520620,;RP11-64C12.1,upstream_gene_variant,,ENST00000623093,;CIDEA,3_prime_UTR_variant,,ENST00000522713,;	A	ENST00000320477	Transcript	stop_gained	719/828	654/660	218/219	C/*	tgT/tgA		1		1	CIDEA	HGNC	HGNC:1976	protein_coding	YES	CCDS11856.1	ENSP00000320209	O60543		UPI0000049059	NM_001279.3			5/5		hmmpanther:PTHR12306,hmmpanther:PTHR12306:SF8																	HIGH	1	SNV	1			1										PASS		rs1325278992	.												A	4	1	3	12277264	12277264	T	A	1	0	0	0	0	0	1	0	0	3187	1702	59	4		4	CIDEA	18	12277264	Nonsense_Mutation	SNP	T	11LU022_TP	667559	12277264	68096021	882	1554											
PRELID3A	0	.	GRCh38	chr18	12420480	12420480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgagtgggggctgcccaGcctcgtgagagcggtgagcg	6	5	18	12	4	0	2	0	2	0	1	1	4	0	2	3	3	4	1	3	3	0	0	novel		11LU022_TP	11LU022_NB	G	G																c.188G>T	p.Ser63Ile	p.S63I	ENST00000440960	2/7	122	107	15	99	99	0	strelka-varscan-mutect	PRELID3A,missense_variant,p.Ser42Ile,ENST00000592149,NM_001142406.1;PRELID3A,missense_variant,p.Ser63Ile,ENST00000440960,NM_001142405.1;PRELID3A,missense_variant,p.Ser63Ile,ENST00000336990,NM_006553.3;PRELID3A,missense_variant,p.Ser84Ile,ENST00000587862,;PRELID3A,missense_variant,p.Ser110Ile,ENST00000588729,;PRELID3A,missense_variant,p.Ser42Ile,ENST00000589952,;PRELID3A,intron_variant,,ENST00000590956,;PRELID3A,upstream_gene_variant,,ENST00000587735,;PRELID3A,intron_variant,,ENST00000589565,;	T	ENST00000440960	Transcript	missense_variant	268/1716	188/519	63/172	S/I	aGc/aTc		1		1	PRELID3A	HGNC	HGNC:24639	protein_coding	YES	CCDS11860.1	ENSP00000404700	Q96N28		UPI0000070E6F	NM_001142405.1	deleterious(0.03)		2/7		PROSITE_profiles:PS50904,hmmpanther:PTHR11158:SF23,hmmpanther:PTHR11158,Pfam_domain:PF04707																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	12420480	12420480	G	T	1	0	0	0	0	1	0	0	0	12605	971	34	2		2	PRELID3A	18	12420480	Missense_Mutation	SNP	G	11LU022_TP	143216	12420480	67952805	883	1555											
CEP192	0	.	GRCh38	chr18	13049562	13049562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgtctgttaaaagactGtgaagaaatacgagataaca	16	11	8	6	1	1	4	0	1	1	3	1	5	1	4	1	0	2	1	1	0	6	4	rs759830148		11LU022_TP	11LU022_NB	G	G																c.2771G>T	p.Cys924Phe	p.C924F	ENST00000506447	16/45	154	141	13	176	175	1	strelka-varscan-mutect	CEP192,missense_variant,p.Cys924Phe,ENST00000506447,NM_032142.3;CEP192,missense_variant,p.Cys449Phe,ENST00000325971,;CEP192,missense_variant,p.Cys463Phe,ENST00000511820,;CEP192,missense_variant,p.Cys665Phe,ENST00000589596,;CEP192,missense_variant,p.Cys524Phe,ENST00000510237,;CEP192,3_prime_UTR_variant,,ENST00000513432,;	T	ENST00000506447	Transcript	missense_variant	2851/7960	2771/7614	924/2537	C/F	tGt/tTt	rs759830148	1		1	CEP192	HGNC	HGNC:25515	protein_coding	YES	CCDS32792.2	ENSP00000427550	Q8TEP8		UPI0001B09235	NM_032142.3	tolerated(0.66)		16/45		hmmpanther:PTHR16029,hmmpanther:PTHR16029:SF10																	MODERATE	1	SNV	5			1										PASS		rs759830148	.												T	3	4	3	13049562	13049562	G	T	1	0	0	0	0	1	0	0	0	2967	1377	48	2		2	CEP192	18	13049562	Missense_Mutation	SNP	G	11LU022_TP	629082	13049562	67323723	884	1556											
POTEC	0	.	GRCh38	chr18	14524970	14524970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcttcctctgatgttagCtttaagtcttgttctgttga	6	19	8	8	0	4	2	0	2	4	0	5	3	5	2	1	0	1	4	1	0	2	7	novel		11LU022_TP	11LU022_NB	C	C																c.1140G>T	p.Lys380Asn	p.K380N	ENST00000358970	7/11	39	32	7	54	54	0	strelka-varscan-mutect	POTEC,missense_variant,p.Lys380Asn,ENST00000358970,NM_001137671.1;POTEC,downstream_gene_variant,,ENST00000620346,;POTEC,downstream_gene_variant,,ENST00000389891,;POTEC,intron_variant,,ENST00000511306,;	A	ENST00000358970	Transcript	missense_variant	1140/1629	1140/1629	380/542	K/N	aaG/aaT		1		-1	POTEC	HGNC	HGNC:33894	protein_coding	YES	CCDS45835.1	ENSP00000351856	B2RU33		UPI0000197B83	NM_001137671.1	deleterious(0.02)		7/11		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF38																	MODERATE	1	SNV	1			1										PASS		rs1452011480	.												A	3	1	3	14524970	14524970	C	A	1	0	0	0	0	1	0	0	0	12376	796	28	2		2	POTEC	18	14524970	Missense_Mutation	SNP	C	11LU022_TP	1475408	14524970	65848315	885	1557											
POTEC	0	.	GRCh38	chr18	14542810	14542810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcccacgttgctcttgcCgctccccctgcagcagggga	5	7	12	17	3	1	0	0	0	1	0	2	1	2	1	4	2	5	5	4	2	0	2	rs113041483		11LU022_TP	11LU022_NB	C	C																c.337G>T	p.Gly113Cys	p.G113C	ENST00000358970	1/11	542	474	68	619	619	0	strelka-varscan-mutect	POTEC,missense_variant,p.Gly113Cys,ENST00000620346,;POTEC,missense_variant,p.Gly113Cys,ENST00000358970,NM_001137671.1;POTEC,non_coding_transcript_exon_variant,,ENST00000389891,;POTEC,missense_variant,p.Gly113Cys,ENST00000511306,;	A	ENST00000358970	Transcript	missense_variant	337/1629	337/1629	113/542	G/C	Ggc/Tgc	rs113041483,COSM2884384	1		-1	POTEC	HGNC	HGNC:33894	protein_coding	YES	CCDS45835.1	ENSP00000351856	B2RU33		UPI0000197B83	NM_001137671.1	deleterious(0.01)		1/11		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF38											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs113041483	.												A	3	1	3	14542810	14542810	C	A	1	0	0	0	0	1	0	0	0	12376	652	23	1		1	POTEC	18	14542810	Missense_Mutation	SNP	C	11LU022_TP	17840	14542810	65830475	886	1558											
LAMA3	0	.	GRCh38	chr18	23864837	23864837	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaagtcctttggcttgcCtggcgacatggttcttctgg	5	13	12	11	1	2	0	0	0	2	0	3	1	3	0	3	4	2	2	3	4	1	4	novel		11LU022_TP	11LU022_NB	C	C																c.4637C>A	p.Pro1546His	p.P1546H	ENST00000313654	36/75	303	230	73	362	362	0	strelka-varscan-mutect	LAMA3,missense_variant,p.Pro1546His,ENST00000313654,NM_198129.2;LAMA3,missense_variant,p.Pro1546His,ENST00000399516,NM_001127717.2;	A	ENST00000313654	Transcript	missense_variant	4878/10661	4637/10002	1546/3333	P/H	cCt/cAt		1		1	LAMA3	HGNC	HGNC:6483	protein_coding	YES	CCDS42419.1	ENSP00000324532	Q16787		UPI000035154D	NM_198129.2	deleterious(0)		36/75		Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF285,SMART_domains:SM00281																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	23864837	23864837	C	A	1	0	0	0	0	1	0	0	0	8511	681	24	2		2	LAMA3	18	23864837	Missense_Mutation	SNP	C	11LU022_TP	9322027	23864837	56508448	887	1559											
ZNF521	0	.	GRCh38	chr18	25227574	25227574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attgacacgggtatggaagcCcagggccaccttcttcctct	8	10	10	13	1	2	1	0	1	2	0	3	2	3	2	4	3	1	1	4	3	2	4	novel		11LU022_TP	11LU022_NB	C	C																c.344G>C	p.Gly115Ala	p.G115A	ENST00000361524	4/8	214	189	25	270	270	0	strelka-varscan-mutect	ZNF521,missense_variant,p.Gly115Ala,ENST00000361524,NM_015461.2;ZNF521,missense_variant,p.Gly115Ala,ENST00000538137,;ZNF521,missense_variant,p.Gly115Ala,ENST00000577801,;ZNF521,missense_variant,p.Gly115Ala,ENST00000580488,;ZNF521,5_prime_UTR_variant,,ENST00000584787,NM_001308225.1;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,non_coding_transcript_exon_variant,,ENST00000577720,;ZNF521,non_coding_transcript_exon_variant,,ENST00000581869,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,missense_variant,p.Gly115Ala,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	G	ENST00000361524	Transcript	missense_variant	493/4871	344/3936	115/1311	G/A	gGg/gCg		1		-1	ZNF521	HGNC	HGNC:24605	protein_coding	YES	CCDS32806.1	ENSP00000354794	Q96K83		UPI000006F982	NM_015461.2	deleterious(0)		4/8		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF222																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	25227574	25227574	C	G	1	0	0	0	0	1	0	0	0	18537	623	22	4		4	ZNF521	18	25227574	Missense_Mutation	SNP	C	11LU022_TP	1362737	25227574	55145711	888	1560											
DSC3	0	.	GRCh38	chr18	31022440	31022440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaaatgctgtatttcaGgcgcgtatgcattgtgtccg	8	13	11	9	3	1	0	1	0	0	0	2	0	2	0	1	1	3	5	1	1	4	4			11LU022_TP	11LU022_NB	G	G																c.838C>A	p.Leu280Met	p.L280M	ENST00000360428	7/16	284	243	41	396	396	0	strelka-varscan-mutect	DSC3,missense_variant,p.Leu280Met,ENST00000434452,NM_024423.3;DSC3,missense_variant,p.Leu280Met,ENST00000360428,NM_001941.4;	T	ENST00000360428	Transcript	missense_variant	919/6939	838/2691	280/896	L/M	Ctg/Atg	COSM5239060,COSM5239061	1		-1	DSC3	HGNC	HGNC:3037	protein_coding	YES	CCDS32810.1	ENSP00000353608	Q14574		UPI000004CAAD	NM_001941.4	deleterious(0)		7/16		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF12,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	3	31022440	31022440	G	T	1	0	0	0	0	1	0	0	0	4588	991	35	2		2	DSC3	18	31022440	Missense_Mutation	SNP	G	11LU022_TP	5794866	31022440	49350845	889	1561											
DSG2	0	.	GRCh38	chr18	31546727	31546727	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaagcatagcactgtacAgcattcttactcctaaacag	14	10	5	12	0	1	0	0	0	1	0	2	0	2	0	2	0	7	4	2	0	7	6	novel		11LU022_TP	11LU022_NB	A	A																c.3341A>T	p.Gln1114Leu	p.Q1114L	ENST00000261590	15/15	397	355	42	434	434	0	strelka-varscan-mutect	DSG2,missense_variant,p.Gln1114Leu,ENST00000261590,NM_001943.3;DSG2-AS1,intron_variant,,ENST00000583706,;DSG2-AS1,downstream_gene_variant,,ENST00000579251,;	T	ENST00000261590	Transcript	missense_variant	3550/5831	3341/3357	1114/1118	Q/L	cAg/cTg		1		1	DSG2	HGNC	HGNC:3049	protein_coding	YES	CCDS42423.1	ENSP00000261590	Q14126		UPI0000048E38	NM_001943.3	deleterious(0)		15/15		hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	31546727	31546727	A	T	1	0	0	0	0	1	0	0	0	4598	188	7	4		4	DSG2	18	31546727	Missense_Mutation	SNP	A	11LU022_TP	524287	31546727	48826558	890	1562											
ASXL3	0	.	GRCh38	chr18	33745966	33745966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcctccccccccaccacctCcgctacctccacctctccct	4	7	2	28	2	1	0	0	0	1	0	5	0	4	0	12	0	1	1	12	0	1	1	rs760150086		11LU022_TP	11LU022_NB	C	C																c.6118C>A	p.Pro2040Thr	p.P2040T	ENST00000269197	12/12	108	91	17	110	110	0	strelka-varscan-mutect	ASXL3,missense_variant,p.Pro2040Thr,ENST00000269197,NM_030632.1;ASXL3,downstream_gene_variant,,ENST00000592288,;	A	ENST00000269197	Transcript	missense_variant	6173/11399	6118/6747	2040/2248	P/T	Ccg/Acg	rs760150086	1		1	ASXL3	HGNC	HGNC:29357	protein_coding	YES	CCDS45847.1	ENSP00000269197	Q9C0F0		UPI000156D0F3	NM_030632.1	deleterious_low_confidence(0)		12/12		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs760150086	.												A	3	1	3	33745966	33745966	C	A	1	0	0	0	0	1	0	0	0	1216	855	30	2		2	ASXL3	18	33745966	Missense_Mutation	SNP	C	11LU022_TP	2199239	33745966	46627319	891	1563											
NOL4	0	.	GRCh38	chr18	34093597	34093597	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actttctattgaactttcatCctgaaaatagttttaaaata	15	17	3	6	0	2	2	1	2	1	0	3	2	3	2	1	0	1	1	1	0	8	8	rs868184130		11LU022_TP	11LU022_NB	C	C																c.640G>T	p.Asp214Tyr	p.D214Y	ENST00000261592	5/11	63	56	7	68	68	0	strelka-varscan-mutect	NOL4,missense_variant,p.Asp214Tyr,ENST00000261592,NM_003787.4;NOL4,missense_variant,p.Asp214Tyr,ENST00000589544,NM_001198548.1;NOL4,missense_variant,p.Asp140Tyr,ENST00000538587,NM_001198547.1;NOL4,missense_variant,p.Asp198Tyr,ENST00000590712,NM_001198546.1;NOL4,splice_region_variant,,ENST00000588280,;NOL4,splice_region_variant,,ENST00000586314,;	A	ENST00000261592	Transcript	missense_variant,splice_region_variant	938/3957	640/1917	214/638	D/Y	Gat/Tat	rs868184130	1		-1	NOL4	HGNC	HGNC:7870	protein_coding	YES	CCDS11907.2	ENSP00000261592	O94818		UPI000059D504	NM_003787.4	deleterious(0)		5/11		Low_complexity_(Seg):seg,hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF17																	MODERATE	1	SNV	1			1										PASS		rs868184130	.												A	3	1	3	34093597	34093597	C	A	1	0	0	0	0	1	0	0	0	10567	869	30	2		2	NOL4	18	34093597	Missense_Mutation	SNP	C	11LU022_TP	347631	34093597	46279688	892	1564											
TPGS2	0	.	GRCh38	chr18	36828755	36828755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccagccccggggacgatgCctcctcctccatggctcgcg	4	6	12	19	4	0	0	0	0	0	0	4	2	3	1	7	3	2	1	7	3	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.13G>T	p.Ala5Ser	p.A5S	ENST00000590842	1/7	161	139	22	216	216	0	strelka-varscan-mutect	TPGS2,missense_variant,p.Ala5Ser,ENST00000334295,NM_015476.3;TPGS2,missense_variant,p.Ala5Ser,ENST00000593035,NM_001271949.1;TPGS2,missense_variant,p.Ala5Ser,ENST00000383056,NM_001271950.1;TPGS2,missense_variant,p.Ala5Ser,ENST00000610723,NM_001271955.1;TPGS2,missense_variant,p.Ala5Ser,ENST00000614939,NM_001271956.1;TPGS2,missense_variant,p.Ala5Ser,ENST00000590842,NM_001271951.1,NM_001271953.1;TPGS2,missense_variant,p.Ala5Ser,ENST00000589049,NM_001271954.1;TPGS2,missense_variant,p.Ala5Ser,ENST00000587129,;TPGS2,missense_variant,p.Ala5Ser,ENST00000590337,;TPGS2,missense_variant,p.Ala5Ser,ENST00000588909,;KIAA1328,upstream_gene_variant,,ENST00000591619,;KIAA1328,upstream_gene_variant,,ENST00000280020,NM_020776.1;KIAA1328,upstream_gene_variant,,ENST00000587139,;TPGS2,upstream_gene_variant,,ENST00000587382,;KIAA1328,upstream_gene_variant,,ENST00000592521,;TPGS2,missense_variant,p.Ala5Ser,ENST00000585635,;TPGS2,missense_variant,p.Ala5Ser,ENST00000591823,;TPGS2,missense_variant,p.Ala5Ser,ENST00000587207,;TPGS2,missense_variant,p.Ala5Ser,ENST00000590692,;TPGS2,non_coding_transcript_exon_variant,,ENST00000591648,;TPGS2,non_coding_transcript_exon_variant,,ENST00000587511,;KIAA1328,upstream_gene_variant,,ENST00000590617,;KIAA1328,upstream_gene_variant,,ENST00000592611,;	A	ENST00000590842	Transcript	missense_variant	88/1239	13/915	5/304	A/S	Gca/Tca		1		-1	TPGS2	HGNC	HGNC:24561	protein_coding	YES	CCDS62424.1	ENSP00000464780	Q68CL5		UPI0002840E1A	NM_001271951.1,NM_001271953.1	tolerated_low_confidence(0.21)		1/7		hmmpanther:PTHR31854																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	3	36828755	36828755	C	A	1	0	0	0	0	1	0	0	0	16881	739	26	2		2	TPGS2	18	36828755	Missense_Mutation	SNP	C	11LU022_TP	2735158	36828755	43544530	893	1565											
SETBP1	0	.	GRCh38	chr18	44952226	44952226	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggaggagctaatcacCaagttccaagtgttcagaat	13	9	10	9	0	2	1	2	0	0	1	3	4	3	3	3	2	1	3	3	2	4	3	novel		11LU022_TP	11LU022_NB	C	C																c.2886C>T	p.=	p.T962T	ENST00000282030	4/6	452	400	52	610	610	0	strelka-varscan-mutect	SETBP1,synonymous_variant,p.=,ENST00000282030,NM_015559.2;	T	ENST00000282030	Transcript	synonymous_variant	3182/9899	2886/4791	962/1596	T	acC/acT		1		1	SETBP1	HGNC	HGNC:15573	protein_coding	YES	CCDS11923.2	ENSP00000282030	Q9Y6X0		UPI0000201C54	NM_015559.2			4/6		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF342																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	44952226	44952226	C	T	1	0	0	0	0	0	0	0	1	14406	581	21	3		3	SETBP1	18	44952226	Silent	SNP	C	11LU022_TP	8123471	44952226	35421059	894	1566											
MAPK4	0	.	GRCh38	chr18	50664036	50664036	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgacttccaacccctGggcttcggtgtcaatggttt	5	16	10	10	1	1	1	1	1	0	0	3	1	2	1	3	3	1	3	3	3	2	5	novel		11LU022_TP	11LU022_NB	G	G																c.78G>T	p.=	p.L26L	ENST00000400384	2/6	182	144	38	239	239	0	strelka-varscan-mutect	MAPK4,synonymous_variant,p.=,ENST00000400384,NM_002747.3;MAPK4,synonymous_variant,p.=,ENST00000592595,NM_001292040.1;MAPK4,synonymous_variant,p.=,ENST00000588540,;MAPK4,intron_variant,,ENST00000540640,NM_001292039.1;MAPK4,upstream_gene_variant,,ENST00000587823,;MAPK4,downstream_gene_variant,,ENST00000586735,;	T	ENST00000400384	Transcript	synonymous_variant	1114/4770	78/1764	26/587	L	ctG/ctT		1		1	MAPK4	HGNC	HGNC:6878	protein_coding	YES	CCDS42437.1	ENSP00000383234	P31152		UPI0000201D20	NM_002747.3			2/6		PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF25,hmmpanther:PTHR24055,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	50664036	50664036	G	T	1	0	0	0	0	0	0	0	1	9204	1335	47	2		2	MAPK4	18	50664036	Silent	SNP	G	11LU022_TP	5711810	50664036	29709249	895	1567											
MAPK4	0	.	GRCh38	chr18	50729809	50729809	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgcatccccgagcacccTggcgacctcgtgcagaccga	7	5	12	17	5	0	1	0	0	0	1	2	4	1	1	5	1	3	3	5	1	0	0	novel		11LU022_TP	11LU022_NB	T	T																c.1719T>A	p.=	p.P573P	ENST00000400384	6/6	121	105	16	124	124	0	strelka-varscan-mutect	MAPK4,synonymous_variant,p.=,ENST00000400384,NM_002747.3;MAPK4,synonymous_variant,p.=,ENST00000540640,NM_001292039.1;MAPK4,3_prime_UTR_variant,,ENST00000592595,NM_001292040.1;	A	ENST00000400384	Transcript	synonymous_variant	2755/4770	1719/1764	573/587	P	ccT/ccA		1		1	MAPK4	HGNC	HGNC:6878	protein_coding	YES	CCDS42437.1	ENSP00000383234	P31152		UPI0000201D20	NM_002747.3			6/6																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	50729809	50729809	T	A	1	0	0	0	0	0	0	0	1	9204	1567	55	4		4	MAPK4	18	50729809	Silent	SNP	T	11LU022_TP	65773	50729809	29643476	896	1568											
SMAD4	0	.	GRCh38	chr18	51054953	51054953	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgagtctaatgctacCagcactgccaactttcccaa	11	10	5	15	0	2	1	0	1	2	0	3	1	3	1	4	0	5	2	4	0	4	3	novel		11LU022_TP	11LU022_NB	C	C																c.627C>T	p.=	p.T209T	ENST00000342988	5/12	265	238	27	324	324	0	strelka-varscan-mutect	SMAD4,synonymous_variant,p.=,ENST00000342988,NM_005359.5;SMAD4,synonymous_variant,p.=,ENST00000398417,;SMAD4,synonymous_variant,p.=,ENST00000588745,;SMAD4,non_coding_transcript_exon_variant,,ENST00000592911,;SMAD4,synonymous_variant,p.=,ENST00000592186,;RP11-729L2.2,3_prime_UTR_variant,,ENST00000590722,;SMAD4,non_coding_transcript_exon_variant,,ENST00000591126,;SMAD4,upstream_gene_variant,,ENST00000611848,;SMAD4,downstream_gene_variant,,ENST00000585448,;	T	ENST00000342988	Transcript	synonymous_variant	1165/8769	627/1659	209/552	T	acC/acT		1		1	SMAD4	HGNC	HGNC:6770	protein_coding	YES	CCDS11950.1	ENSP00000341551	Q13485	A0A024R274	UPI0000053431	NM_005359.5			5/12																			LOW		SNV	5			1										PASS		rs905151346	.												T	2	4	3	51054953	51054953	C	T	1	0	0	0	0	0	0	0	1	15053	581	21	3		3	SMAD4	18	51054953	Silent	SNP	C	11LU022_TP	325144	51054953	29318332	897	1569											
DCC	0	.	GRCh38	chr18	53215551	53215551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgattccttttagtgcCaagtgccccgcctcagaacg	7	13	9	12	2	1	2	1	1	0	1	2	2	2	2	5	0	3	1	5	0	3	4			11LU022_TP	11LU022_NB	C	C																c.1865C>G	p.Pro622Arg	p.P622R	ENST00000442544	12/29	303	267	36	422	422	0	strelka-varscan-mutect	DCC,missense_variant,p.Pro622Arg,ENST00000442544,NM_005215.3;DCC,missense_variant,p.Pro599Arg,ENST00000412726,;DCC,missense_variant,p.Pro277Arg,ENST00000581580,;DCC,missense_variant,p.Pro556Arg,ENST00000304775,;	G	ENST00000442544	Transcript	missense_variant	2481/10206	1865/4344	622/1447	P/R	cCa/cGa	COSM709366	1		1	DCC	HGNC	HGNC:2701	protein_coding	YES	CCDS11952.1	ENSP00000389140	P43146		UPI00001AEDC6	NM_005215.3	deleterious(0)		12/29		Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF68,SMART_domains:SM00060,Superfamily_domains:SSF49265											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	3	53215551	53215551	C	G	1	0	0	0	0	1	0	0	0	4084	608	21	4		4	DCC	18	53215551	Missense_Mutation	SNP	C	11LU022_TP	2160598	53215551	27157734	898	1570											
MBD2	0	.	GRCh38	chr18	54203056	54203056	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtatgagcaagcagagtCttgaaagcgcatgccatggt	12	8	13	8	2	1	3	0	2	1	1	1	3	1	3	1	1	5	4	1	1	3	2	novel		11LU022_TP	11LU022_NB	C	C																c.749G>T	p.Arg250Ile	p.R250I	ENST00000583046	3/3	172	152	20	201	201	0	strelka-varscan-mutect	MBD2,missense_variant,p.Arg250Ile,ENST00000583046,NM_015832.4;MBD2,3_prime_UTR_variant,,ENST00000398398,;MBD2,intron_variant,,ENST00000256429,NM_003927.4;MBD2,intron_variant,,ENST00000578272,;	A	ENST00000583046	Transcript	missense_variant	807/1182	749/909	250/302	R/I	aGa/aTa		1		-1	MBD2	HGNC	HGNC:6917	protein_coding		CCDS45871.1	ENSP00000464554	Q9UBB5	A0A024R2B8	UPI000006E78C	NM_015832.4	deleterious_low_confidence(0)		3/3		Low_complexity_(Seg):seg																	MODERATE		SNV	1			1										PASS		.	.												A	3	1	3	54203056	54203056	C	A	1	0	0	0	0	1	0	0	0	9272	913	32	2		2	MBD2	18	54203056	Missense_Mutation	SNP	C	11LU022_TP	987505	54203056	26170229	899	1571											
NEDD4L	0	.	GRCh38	chr18	58325157	58325157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcagtggcacagaccaagCctgatgtgagtaccgtgtga	11	8	12	10	1	1	4	1	3	0	1	1	4	1	4	3	1	2	2	3	1	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.675C>T	p.=	p.S225S	ENST00000400345	9/31	116	104	12	118	118	0	strelka-varscan-mutect	NEDD4L,synonymous_variant,p.=,ENST00000456986,NM_001144964.1,NM_001144965.1;NEDD4L,synonymous_variant,p.=,ENST00000382850,NM_015277.5;NEDD4L,synonymous_variant,p.=,ENST00000456173,NM_001144970.2;NEDD4L,synonymous_variant,p.=,ENST00000635997,;NEDD4L,synonymous_variant,p.=,ENST00000400345,NM_001144967.2;NEDD4L,synonymous_variant,p.=,ENST00000357895,NM_001144968.1;NEDD4L,synonymous_variant,p.=,ENST00000435432,NM_001144971.1;NEDD4L,synonymous_variant,p.=,ENST00000586263,NM_001144969.1;NEDD4L,synonymous_variant,p.=,ENST00000431212,NM_001144966.2;NEDD4L,synonymous_variant,p.=,ENST00000356462,NM_001243960.1;NEDD4L,synonymous_variant,p.=,ENST00000256830,;NEDD4L,synonymous_variant,p.=,ENST00000587881,;NEDD4L,synonymous_variant,p.=,ENST00000586268,;NEDD4L,intron_variant,,ENST00000589054,;NEDD4L,downstream_gene_variant,,ENST00000587190,;NEDD4L,downstream_gene_variant,,ENST00000588494,;NEDD4L,downstream_gene_variant,,ENST00000592846,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000592601,;NEDD4L,downstream_gene_variant,,ENST00000587634,;NEDD4L,downstream_gene_variant,,ENST00000588066,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000590020,;	T	ENST00000400345	Transcript	synonymous_variant	958/3647	675/2928	225/975	S	agC/agT		1		1	NEDD4L	HGNC	HGNC:7728	protein_coding	YES	CCDS45872.1	ENSP00000383199	Q96PU5		UPI000058E3AE	NM_001144967.2			9/31		Gene3D:2.20.70.10,PROSITE_profiles:PS50020,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF310,SMART_domains:SM00456,Superfamily_domains:SSF51045																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	58325157	58325157	C	T	1	0	0	0	0	0	0	0	1	10339	753	26	3		3	NEDD4L	18	58325157	Silent	SNP	C	11LU022_TP	4122101	58325157	22048128	900	1572											
ALPK2	0	.	GRCh38	chr18	58503977	58503977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacttgttttctggtacacCcagtgctggaaggtgcaaca	9	11	10	11	0	1	0	0	0	1	0	1	1	1	1	2	3	4	4	2	3	3	4	novel		11LU022_TP	11LU022_NB	C	C																c.6201G>T	p.Trp2067Cys	p.W2067C	ENST00000361673	11/13	105	88	17	139	139	0	strelka-varscan-mutect	ALPK2,missense_variant,p.Trp2067Cys,ENST00000361673,NM_052947.3;	A	ENST00000361673	Transcript	missense_variant	6415/7303	6201/6513	2067/2170	W/C	tgG/tgT		1		-1	ALPK2	HGNC	HGNC:20565	protein_coding	YES	CCDS11966.2	ENSP00000354991	Q86TB3		UPI000022A768	NM_052947.3	deleterious(0)		11/13		Pfam_domain:PF02816,PROSITE_profiles:PS51158,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6,SMART_domains:SM00811,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	58503977	58503977	C	A	1	0	0	0	0	1	0	0	0	645	624	22	2		2	ALPK2	18	58503977	Missense_Mutation	SNP	C	11LU022_TP	178820	58503977	21869308	901	1573											
ZNF532	0	.	GRCh38	chr18	58984336	58984336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaggatgaatcccctgatgGcgccgtgtcagacagaaagt	11	7	13	10	3	1	4	1	2	0	2	2	6	2	5	3	2	0	0	3	2	2	0	novel		11LU022_TP	11LU022_NB	G	G																c.3776G>T	p.Gly1259Val	p.G1259V	ENST00000336078	11/11	306	267	39	321	321	0	strelka-varscan-mutect	ZNF532,missense_variant,p.Gly1259Val,ENST00000336078,NM_001318726.1,NM_001318727.1,NM_001318728.1,NM_018181.4;ZNF532,missense_variant,p.Gly1259Val,ENST00000589288,;ZNF532,missense_variant,p.Gly1259Val,ENST00000591083,;ZNF532,missense_variant,p.Gly1259Val,ENST00000591808,;ZNF532,missense_variant,p.Gly1259Val,ENST00000591230,;ZNF532,downstream_gene_variant,,ENST00000586997,;ZNF532,non_coding_transcript_exon_variant,,ENST00000588956,;ZNF532,non_coding_transcript_exon_variant,,ENST00000592249,;ZNF532,downstream_gene_variant,,ENST00000589131,;ZNF532,non_coding_transcript_exon_variant,,ENST00000590442,;ZNF532,downstream_gene_variant,,ENST00000585662,;ZNF532,downstream_gene_variant,,ENST00000586723,;	T	ENST00000336078	Transcript	missense_variant	4552/6696	3776/3906	1259/1301	G/V	gGc/gTc		1		1	ZNF532	HGNC	HGNC:30940	protein_coding	YES	CCDS11969.1	ENSP00000338217	Q9HCE3	A0A024R283	UPI000013D30C	NM_001318726.1,NM_001318727.1,NM_001318728.1,NM_018181.4	tolerated(0.07)		11/11		hmmpanther:PTHR26374,hmmpanther:PTHR26374:SF204																	MODERATE	1	SNV	1			1										PASS		rs1486486746	.												T	3	4	3	58984336	58984336	G	T	1	0	0	0	0	1	0	0	0	18545	1203	42	2		2	ZNF532	18	58984336	Missense_Mutation	SNP	G	11LU022_TP	480359	58984336	21388949	902	1574											
ZNF516	0	.	GRCh38	chr18	76442300	76442300	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaaggcctggccacacAcctcgcacgggaactccccg	8	4	12	17	3	0	1	0	1	0	0	2	2	1	2	5	4	1	2	5	4	2	0	novel		11LU022_TP	11LU022_NB	A	A																c.755T>C	p.Val252Ala	p.V252A	ENST00000443185	3/7	246	210	36	278	278	0	strelka-varscan-mutect	ZNF516,missense_variant,p.Val252Ala,ENST00000443185,NM_014643.3;ZNF516,downstream_gene_variant,,ENST00000532857,;	G	ENST00000443185	Transcript	missense_variant	1073/8118	755/3492	252/1163	V/A	gTg/gCg		1		-1	ZNF516	HGNC	HGNC:28990	protein_coding	YES	CCDS74234.1	ENSP00000394757	Q92618		UPI00001394A1	NM_014643.3	deleterious(0.02)		3/7		PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF3,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	76442300	76442300	A	G	1	0	0	0	0	1	0	0	0	18532	159	6	5		5	ZNF516	18	76442300	Missense_Mutation	SNP	A	11LU022_TP	17457964	76442300	3930985	903	1575											
GALR1	0	.	GRCh38	chr18	77256223	77256223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagcatccaagaaaaaGgtaatgatcacaaatatata	20	9	6	6	0	2	3	1	2	1	1	3	3	3	3	1	1	1	2	1	1	9	4	novel		11LU022_TP	11LU022_NB	G	G																c.732G>T	p.Lys244Asn	p.K244N	ENST00000299727	2/3	86	77	9	133	132	1	strelka-varscan-mutect	GALR1,missense_variant,p.Lys244Asn,ENST00000299727,NM_001480.3;GALR1,downstream_gene_variant,,ENST00000582943,;	T	ENST00000299727	Transcript	missense_variant,splice_region_variant	732/10044	732/1050	244/349	K/N	aaG/aaT		1		1	GALR1	HGNC	HGNC:4132	protein_coding	YES	CCDS12012.1	ENSP00000299727	P47211		UPI000013E5DE	NM_001480.3	deleterious(0)		2/3		Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF31,hmmpanther:PTHR24230,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		rs747931381	.												T	3	4	3	77256223	77256223	G	T	1	0	0	0	0	1	0	0	0	6095	1014	35	2		2	GALR1	18	77256223	Missense_Mutation	SNP	G	11LU022_TP	813923	77256223	3117062	904	1576											
SALL3	0	.	GRCh38	chr18	78995287	78995287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgggcccgggcctggCgcccatgctggcccccccac	4	5	14	18	2	0	1	0	1	0	0	0	1	0	1	6	4	1	1	6	4	0	0	rs752632478		11LU022_TP	11LU022_NB	C	C																c.3296C>A	p.Ala1099Glu	p.A1099E	ENST00000537592	2/3	146	120	26	186	186	0	strelka-varscan-mutect	SALL3,missense_variant,p.Ala1099Glu,ENST00000537592,NM_171999.3;SALL3,missense_variant,p.Ala894Glu,ENST00000536229,;SALL3,missense_variant,p.Ala1027Glu,ENST00000575389,;SALL3,missense_variant,p.Ala759Glu,ENST00000616649,;SALL3,missense_variant,p.Ala92Glu,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	A	ENST00000537592	Transcript	missense_variant	3296/6555	3296/3903	1099/1300	A/E	gCg/gAg	rs752632478,COSM1130036	1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3	tolerated(0.09)		2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs752632478	.												A	3	1	3	78995287	78995287	C	A	1	0	0	0	0	1	0	0	0	14071	768	27	1		1	SALL3	18	78995287	Missense_Mutation	SNP	C	11LU022_TP	1739064	78995287	1377998	905	1577											
HCN2	0	.	GRCh38	chr19	616454	616454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggactccgcgcgctcgCgcctctcgtccaacttgtga	5	8	10	18	6	1	1	0	1	1	0	5	2	3	2	4	1	1	1	4	1	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.2650C>A	p.Arg884Ser	p.R884S	ENST00000251287	8/8	34	24	10	65	65	0	strelka-varscan-mutect	HCN2,missense_variant,p.Arg884Ser,ENST00000251287,NM_001194.3;POLRMT,downstream_gene_variant,,ENST00000588649,NM_005035.3;POLRMT,downstream_gene_variant,,ENST00000590336,;POLRMT,downstream_gene_variant,,ENST00000587057,;POLRMT,downstream_gene_variant,,ENST00000589961,;POLRMT,downstream_gene_variant,,ENST00000592633,;	A	ENST00000251287	Transcript	missense_variant	2703/3408	2650/2670	884/889	R/S	Cgc/Agc		1		1	HCN2	HGNC	HGNC:4846	protein_coding	YES	CCDS12035.1	ENSP00000251287	Q9UL51		UPI000013CCF6	NM_001194.3	deleterious_low_confidence(0)		8/8																			MODERATE	1	SNV	1			1										PASS		rs1344385887	.												A	3	1	3	616454	616454	C	A	1	0	0	0	0	1	0	0	0	6884	768	27	1		1	HCN2	19	616454	Missense_Mutation	SNP	C	11LU022_TP		616454	58001162	906	1578											
PALM	0	.	GRCh38	chr19	746736	746736	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagggaagagaatcaggcGgggcccgaggccaccaccag	11	2	15	13	2	1	1	1	0	0	1	2	4	2	2	5	5	0	0	5	5	2	0	rs752701541		11LU022_TP	11LU022_NB	G	G																c.1086G>T	p.=	p.A362A	ENST00000338448	9/9	227	162	65	283	283	0	strelka-varscan-mutect	PALM,synonymous_variant,p.=,ENST00000264560,NM_001040134.1;PALM,synonymous_variant,p.=,ENST00000338448,NM_002579.2;PALM,synonymous_variant,p.=,ENST00000592155,;PALM,synonymous_variant,p.=,ENST00000590161,;MISP,upstream_gene_variant,,ENST00000215582,NM_173481.2;PALM,non_coding_transcript_exon_variant,,ENST00000593172,;PALM,non_coding_transcript_exon_variant,,ENST00000587513,;PALM,non_coding_transcript_exon_variant,,ENST00000633534,;	T	ENST00000338448	Transcript	synonymous_variant	1132/2725	1086/1164	362/387	A	gcG/gcT	rs752701541,COSM3541226	1		1	PALM	HGNC	HGNC:8594	protein_coding	YES	CCDS32857.1	ENSP00000341911	O75781	A0A024R1Y6	UPI0000001616	NM_002579.2			9/9		Pfam_domain:PF03285,hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF6											0,1						LOW	1	SNV	1		0,1	1										PASS		rs752701541	.												T	2	4	3	746736	746736	G	T	1	0	0	0	0	0	0	0	1	11488	1103	39	1		1	PALM	19	746736	Silent	SNP	G	11LU022_TP	130282	746736	57870880	907	1579											
ZFR2	0	.	GRCh38	chr19	3827534	3827534	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccggtgcaggacacggcGcacaggtcgcaatgcagctg	8	4	15	14	4	0	0	0	0	0	0	1	1	0	1	2	4	3	5	2	4	1	0	rs773842233		11LU022_TP	11LU022_NB	G	G																c.972C>A	p.Cys324Ter	p.C324*	ENST00000262961	6/19	154	105	49	233	233	0	strelka-varscan-mutect	ZFR2,stop_gained,p.Cys324Ter,ENST00000262961,NM_015174.1;ZFR2,downstream_gene_variant,,ENST00000591965,;ZFR2,stop_gained,p.Cys324Ter,ENST00000438164,;	T	ENST00000262961	Transcript	stop_gained	983/4756	972/2820	324/939	C/*	tgC/tgA	rs773842233	1		-1	ZFR2	HGNC	HGNC:29189	protein_coding	YES	CCDS45921.1	ENSP00000262961	Q9UPR6		UPI0000DD84BE	NM_015174.1			6/19		hmmpanther:PTHR10910:SF85,hmmpanther:PTHR10910,PROSITE_patterns:PS00028,Pfam_domain:PF12874,SMART_domains:SM00355,SMART_domains:SM00451,Superfamily_domains:SSF57667																	HIGH	1	SNV	5			1										PASS		rs773842233	.												T	4	4	3	3827534	3827534	G	T	1	0	0	0	0	0	1	0	0	18238	1079	38	1		1	ZFR2	19	3827534	Nonsense_Mutation	SNP	G	11LU022_TP	3080798	3827534	54790082	908	1580											
FUT3	0	.	GRCh38	chr19	5843958	5843958	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttggggctctggaagtcGtccacgtggatgaaggcgtc	6	10	15	10	3	1	1	0	1	1	0	5	3	3	3	2	5	0	1	2	5	2	1	rs778985		11LU022_TP	11LU022_NB	G	G																c.882C>T	p.=	p.D294D	ENST00000303225	3/3	304	221	83	563	563	0	strelka-varscan	FUT3,synonymous_variant,p.=,ENST00000303225,NM_000149.3;FUT3,synonymous_variant,p.=,ENST00000589620,NM_001097639.1;FUT3,synonymous_variant,p.=,ENST00000589918,NM_001097640.1;FUT3,synonymous_variant,p.=,ENST00000458379,NM_001097641.1;FUT6,upstream_gene_variant,,ENST00000318336,NM_000150.2;FUT6,upstream_gene_variant,,ENST00000286955,NM_001040701.1;FUT6,upstream_gene_variant,,ENST00000524754,;FUT3,downstream_gene_variant,,ENST00000585715,;FUT3,downstream_gene_variant,,ENST00000587183,;FUT3,downstream_gene_variant,,ENST00000587048,;FUT3,downstream_gene_variant,,ENST00000589714,;AC024592.9,upstream_gene_variant,,ENST00000589276,;FUT3,downstream_gene_variant,,ENST00000593144,;FUT3,downstream_gene_variant,,ENST00000588539,;FUT6,upstream_gene_variant,,ENST00000591079,;	A	ENST00000303225	Transcript	synonymous_variant	1517/2584	882/1086	294/361	D	gaC/gaT	rs778985	1		-1	FUT3	HGNC	HGNC:4014	protein_coding	YES	CCDS12153.1	ENSP00000305603	P21217		UPI000013E879	NM_000149.3			3/3		hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF150,Pfam_domain:PF00852,Superfamily_domains:SSF53756																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	5843958	5843958	G	A	1	0	0	0	0	0	0	0	1	5977	1136	40	1		1	FUT3	19	5843958	Silent	SNP	G	11LU022_TP	2016424	5843958	52773658	909	1581											
SLC25A23	0	.	GRCh38	chr19	6444193	6444193	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagggccagcgggtaacTggctatctggccgcaggtgc	7	6	16	12	2	1	0	0	0	1	0	1	1	1	0	3	5	3	3	3	5	2	2	novel		11LU022_TP	11LU022_NB	T	T																c.1180A>T	p.Ser394Cys	p.S394C	ENST00000301454	9/10	60	41	19	93	93	0	strelka-varscan-mutect	SLC25A23,missense_variant,p.Ser394Cys,ENST00000301454,NM_024103.2;SLC25A23,missense_variant,p.Ser394Cys,ENST00000334510,;SLC25A23,missense_variant,p.Ser162Cys,ENST00000600682,;SLC25A23,missense_variant,p.Ser126Cys,ENST00000598908,;SLC25A23,missense_variant,p.Ser157Cys,ENST00000593600,;SLC25A23,missense_variant,p.Ser103Cys,ENST00000595810,;SLC25A23,missense_variant,p.Ser55Cys,ENST00000601322,;SLC25A23,non_coding_transcript_exon_variant,,ENST00000601760,;SLC25A23,missense_variant,p.Ser441Cys,ENST00000264088,;SLC25A23,missense_variant,p.Ser63Cys,ENST00000598704,;SLC25A23,non_coding_transcript_exon_variant,,ENST00000597039,;	A	ENST00000301454	Transcript	missense_variant	1287/3425	1180/1407	394/468	S/C	Agt/Tgt		1		-1	SLC25A23	HGNC	HGNC:19375	protein_coding	YES	CCDS32882.1	ENSP00000301454	Q9BV35		UPI0000049FAD	NM_024103.2	deleterious(0)		9/10		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF196,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588,Prints_domain:PR00926																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	6444193	6444193	T	A	1	0	0	0	0	1	0	0	0	14751	1580	55	4		4	SLC25A23	19	6444193	Missense_Mutation	SNP	T	11LU022_TP	600235	6444193	52173423	910	1582											
FBN3	0	.	GRCh38	chr19	8096521	8096521	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgccttctgtgtccatgCagtcaccatggctacagaca	9	10	9	13	0	2	1	1	0	1	1	3	1	3	1	3	1	4	3	3	1	1	2	novel		11LU022_TP	11LU022_NB	C	C																c.5462G>C	p.Cys1821Ser	p.C1821S	ENST00000600128	44/64	111	90	21	156	156	0	strelka-varscan-mutect	FBN3,missense_variant,p.Cys1821Ser,ENST00000600128,;FBN3,missense_variant,p.Cys1821Ser,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Cys1821Ser,ENST00000601739,NM_001321431.1;FBN3,missense_variant,p.Cys82Ser,ENST00000602121,;	G	ENST00000600128	Transcript	missense_variant	5877/9362	5462/8430	1821/2809	C/S	tGc/tCc		1		-1	FBN3	HGNC	HGNC:18794	protein_coding	YES	CCDS12196.1	ENSP00000470498	Q75N90		UPI000013D88F		deleterious(0)		44/64		PROSITE_profiles:PS50026,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PROSITE_patterns:PS00010,PIRSF_domain:PIRSF036312,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	3	8096521	8096521	C	G	1	0	0	0	0	1	0	0	0	5567	710	25	4		4	FBN3	19	8096521	Missense_Mutation	SNP	C	11LU022_TP	1652328	8096521	50521095	911	1583											
MUC16	0	.	GRCh38	chr19	8903520	8903520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgggcgcagaggtctgatGggtgaaacctgcgtagagaa	10	8	17	6	2	1	4	0	2	1	2	1	5	1	4	1	3	2	3	1	3	3	2	rs267605781		11LU022_TP	11LU022_NB	G	G																c.38452C>A	p.His12818Asn	p.H12818N	ENST00000397910	32/84	83	55	28	115	115	0	strelka-varscan-mutect	MUC16,missense_variant,p.His12818Asn,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	38656/43816	38452/43524	12818/14507	H/N	Cat/Aat	rs267605781,COSM341173	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			32/84		PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Gene3D:1ivzA00,Superfamily_domains:0047452											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs267605781	.												T	3	4	3	8903520	8903520	G	T	1	0	0	0	0	1	0	0	0	9972	1348	47	2		2	MUC16	19	8903520	Missense_Mutation	SNP	G	11LU022_TP	806999	8903520	49714096	912	1584											
OLFM2	0	.	GRCh38	chr19	9854589	9854589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccatgaagtccatgtcgGagaagccgccccaggagtag	11	5	12	13	2	0	2	0	1	0	1	2	4	1	3	6	2	1	1	6	2	3	1	novel		11LU022_TP	11LU022_NB	G	G																c.962C>A	p.Ser321Tyr	p.S321Y	ENST00000264833	6/6	177	112	65	263	262	1	strelka-varscan-mutect	OLFM2,missense_variant,p.Ser321Tyr,ENST00000264833,NM_058164.3;OLFM2,missense_variant,p.Ser243Tyr,ENST00000590841,NM_001304348.1;OLFM2,downstream_gene_variant,,ENST00000593091,NM_001304347.1;PIN1,downstream_gene_variant,,ENST00000247970,NM_006221.3;PIN1,downstream_gene_variant,,ENST00000588695,;PIN1,downstream_gene_variant,,ENST00000380889,;PIN1,downstream_gene_variant,,ENST00000590540,;OLFM2,3_prime_UTR_variant,,ENST00000592448,;PIN1,downstream_gene_variant,,ENST00000586025,;OLFM2,downstream_gene_variant,,ENST00000590410,;PIN1,downstream_gene_variant,,ENST00000591777,;	T	ENST00000264833	Transcript	missense_variant	1148/2019	962/1365	321/454	S/Y	tCc/tAc		1		-1	OLFM2	HGNC	HGNC:17189	protein_coding	YES	CCDS12221.1	ENSP00000264833	O95897		UPI000013D57B	NM_058164.3	deleterious(0)		6/6		PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF27,Pfam_domain:PF02191,SMART_domains:SM00284																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	9854589	9854589	G	T	1	0	0	0	0	1	0	0	0	10928	1174	41	2		2	OLFM2	19	9854589	Missense_Mutation	SNP	G	11LU022_TP	951069	9854589	48763027	913	1585											
CALR	0	.	GRCh38	chr19	12940618	12940618	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagagatggacggagaGtgggaacccccagtgattca	13	6	15	7	1	1	4	1	2	0	2	1	9	1	6	2	3	1	0	2	3	2	1	novel		11LU022_TP	11LU022_NB	G	G																c.780G>T	p.Glu260Asp	p.E260D	ENST00000316448	6/9	436	313	123	674	674	0	strelka-varscan-mutect	CALR,missense_variant,p.Glu260Asp,ENST00000316448,NM_004343.3;CALR,missense_variant,p.Glu45Asp,ENST00000586760,;CALR,missense_variant,p.Glu192Asp,ENST00000588454,;MIR6515,downstream_gene_variant,,ENST00000619843,;CTC-425F1.4,downstream_gene_variant,,ENST00000589120,;CALR,downstream_gene_variant,,ENST00000587486,;CALR,downstream_gene_variant,,ENST00000590325,;CALR,upstream_gene_variant,,ENST00000586803,;CALR,upstream_gene_variant,,ENST00000586967,;	T	ENST00000316448	Transcript	missense_variant	853/1903	780/1254	260/417	E/D	gaG/gaT		1		1	CALR	HGNC	HGNC:1455	protein_coding	YES	CCDS12288.1	ENSP00000320866	P27797	V9HW88	UPI000004CEC9	NM_004343.3	deleterious(0.03)		6/9		Low_complexity_(Seg):seg,hmmpanther:PTHR11073:SF16,hmmpanther:PTHR11073,PIRSF_domain:PIRSF002356,Pfam_domain:PF00262,Superfamily_domains:SSF63887,Prints_domain:PR00626																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	12940618	12940618	G	T	1	0	0	0	0	1	0	0	0	2283	1020	36	2		2	CALR	19	12940618	Missense_Mutation	SNP	G	11LU022_TP	3086029	12940618	45676998	914	1586											
TMEM38A	0	.	GRCh38	chr19	16680421	16680421	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgattttcttctgccccctGgacctcttctacaagtgtgt	5	17	7	12	0	4	1	0	1	4	0	4	2	4	2	3	1	2	0	3	1	2	6	novel		11LU022_TP	11LU022_NB	G	G																c.306G>T	p.=	p.L102L	ENST00000187762	3/6	119	79	40	142	142	0	strelka-varscan-mutect	TMEM38A,synonymous_variant,p.=,ENST00000187762,NM_024074.1;TMEM38A,synonymous_variant,p.=,ENST00000599479,;TMEM38A,non_coding_transcript_exon_variant,,ENST00000595452,;	T	ENST00000187762	Transcript	synonymous_variant	397/2649	306/900	102/299	L	ctG/ctT		1		1	TMEM38A	HGNC	HGNC:28462	protein_coding	YES	CCDS12349.1	ENSP00000187762	Q9H6F2		UPI000006E0B9	NM_024074.1			3/6		Pfam_domain:PF05197,hmmpanther:PTHR12454,hmmpanther:PTHR12454:SF3,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	16680421	16680421	G	T	1	0	0	0	0	0	0	0	1	16636	1335	47	2		2	TMEM38A	19	16680421	Silent	SNP	G	11LU022_TP	3739803	16680421	41937195	915	1587											
COLGALT1	0	.	GRCh38	chr19	17581417	17581417	+	Silent	SNP	G	G	T																															gacgtgctccagtccccactGgacagtgctgcccgggatga																										11LU022_TP	11LU022_NB	G	G																c.1842G>T	p.=	p.L614L	ENST00000252599	12/12	109	88	21	194	194	0	strelka-varscan-mutect	COLGALT1,synonymous_variant,p.=,ENST00000252599,NM_024656.2;COLGALT1,downstream_gene_variant,,ENST00000597147,;COLGALT1,non_coding_transcript_exon_variant,,ENST00000593832,;COLGALT1,downstream_gene_variant,,ENST00000597075,;	T	ENST00000252599	Transcript	synonymous_variant	1962/3704	1842/1869	614/622	L	ctG/ctT	COSM4433060	1		1	COLGALT1	HGNC	HGNC:26182	protein_coding	YES	CCDS12363.1	ENSP00000252599	Q8NBJ5		UPI000003B0F7	NM_024656.2			12/12													1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	3	17581417	17581417	G	T	1	0	0	0	0	0	0	0	1	3503	1335	47	2		2	COLGALT1	19	17581417	Silent	SNP	G	11LU022_TP	900996	17581417	41036199	916	1588	38	2									
COLGALT1	0	.	GRCh38	chr19	17581418	17581418	+	Missense_Mutation	SNP	G	G	T																															acgtgctccagtccccactgGacagtgctgcccgggatgaa																								novel		11LU022_TP	11LU022_NB	G	G																c.1843G>T	p.Asp615Tyr	p.D615Y	ENST00000252599	12/12	103	83	20	193	193	0	strelka-varscan-mutect	COLGALT1,missense_variant,p.Asp615Tyr,ENST00000252599,NM_024656.2;COLGALT1,downstream_gene_variant,,ENST00000597147,;COLGALT1,non_coding_transcript_exon_variant,,ENST00000593832,;COLGALT1,downstream_gene_variant,,ENST00000597075,;	T	ENST00000252599	Transcript	missense_variant	1963/3704	1843/1869	615/622	D/Y	Gac/Tac		1		1	COLGALT1	HGNC	HGNC:26182	protein_coding	YES	CCDS12363.1	ENSP00000252599	Q8NBJ5		UPI000003B0F7	NM_024656.2	deleterious_low_confidence(0)		12/12																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	17581418	17581418	G	T	1	0	0	0	0	1	0	0	0	3503	1174	41	2		2	COLGALT1	19	17581418	Missense_Mutation	SNP	G	11LU022_TP	1	17581418	41036198	917	1589	38	2									
SLC5A5	0	.	GRCh38	chr19	17888422	17888422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggcacgctgaccactGtgctgtgcggagccctcatc	5	8	12	16	2	1	1	1	1	0	0	2	2	1	2	3	2	3	3	3	2	0	0	novel		11LU022_TP	11LU022_NB	G	G																c.1618G>T	p.Val540Leu	p.V540L	ENST00000222248	13/15	438	326	112	596	595	1	strelka-varscan-mutect	SLC5A5,missense_variant,p.Val540Leu,ENST00000222248,NM_000453.2;SLC5A5,downstream_gene_variant,,ENST00000597109,;	T	ENST00000222248	Transcript	missense_variant	1965/3576	1618/1932	540/643	V/L	Gtg/Ttg		1		1	SLC5A5	HGNC	HGNC:11040	protein_coding	YES	CCDS12368.1	ENSP00000222248	Q92911		UPI00001359F6	NM_000453.2	tolerated(0.24)		13/15		Transmembrane_helices:TMhelix,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	17888422	17888422	G	T	1	0	0	0	0	1	0	0	0	14951	1377	48	2		2	SLC5A5	19	17888422	Missense_Mutation	SNP	G	11LU022_TP	307004	17888422	40729194	918	1590											
CERS1	0	.	GRCh38	chr19	18895987	18895987	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgccgccgccagcgcgCtgccccagccgcgctgcact	3	3	12	23	8	0	0	0	0	0	0	0	0	0	0	7	0	4	3	7	0	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.86G>T	p.Ser29Ile	p.S29I	ENST00000623882	1/8	24	18	6	29	29	0	strelka-varscan-mutect	CERS1,missense_variant,p.Ser29Ile,ENST00000623882,NM_021267.4;CERS1,missense_variant,p.Ser29Ile,ENST00000429504,NM_198207.2;CERS1,5_prime_UTR_variant,,ENST00000623927,NM_001492.5;GDF1,5_prime_UTR_variant,,ENST00000247005,;CERS1,intron_variant,,ENST00000542296,NM_001290265.1;COPE,downstream_gene_variant,,ENST00000600932,;COPE,downstream_gene_variant,,ENST00000262812,NM_007263.3;COPE,downstream_gene_variant,,ENST00000349893,NM_199444.1;COPE,downstream_gene_variant,,ENST00000351079,NM_199442.1;COPE,downstream_gene_variant,,ENST00000598969,;COPE,downstream_gene_variant,,ENST00000595984,;COPE,downstream_gene_variant,,ENST00000600528,;COPE,downstream_gene_variant,,ENST00000593827,;	A	ENST00000623882	Transcript	missense_variant	110/2517	86/1053	29/350	S/I	aGc/aTc		1		-1	CERS1	HGNC	HGNC:14253	protein_coding		CCDS46020.1	ENSP00000485308	P27544		UPI000012E98A	NM_021267.4	tolerated(0.16)		1/8		hmmpanther:PTHR12560,hmmpanther:PTHR12560:SF20																	MODERATE		SNV	1			1										PASS		.	.												A	3	1	3	18895987	18895987	C	A	1	0	0	0	0	1	0	0	0	2995	797	28	2		2	CERS1	19	18895987	Missense_Mutation	SNP	C	11LU022_TP	1007565	18895987	39721629	919	1591											
GATAD2A	0	.	GRCh38	chr19	19465392	19465392	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcagaaacgagcgcttgAacgggacccaacagaggacg	14	3	14	10	4	1	3	1	1	0	2	1	7	1	5	1	2	4	1	1	2	3	1	novel		11LU022_TP	11LU022_NB	A	A																c.47A>T	p.Glu16Val	p.E16V	ENST00000404158	4/14	166	110	56	249	249	0	strelka-varscan-mutect	GATAD2A,missense_variant,p.Glu16Val,ENST00000404158,NM_001300946.1;GATAD2A,missense_variant,p.Glu16Val,ENST00000360315,NM_017660.3;GATAD2A,missense_variant,p.Glu16Val,ENST00000358713,;GATAD2A,missense_variant,p.Glu16Val,ENST00000457895,;GATAD2A,missense_variant,p.Glu16Val,ENST00000417582,;GATAD2A,missense_variant,p.Glu16Val,ENST00000494516,;GATAD2A,missense_variant,p.Glu16Val,ENST00000432704,;GATAD2A,missense_variant,p.Glu16Val,ENST00000444839,;GATAD2A,missense_variant,p.Glu16Val,ENST00000429242,;GATAD2A,missense_variant,p.Glu16Val,ENST00000418032,;GATAD2A,missense_variant,p.Glu16Val,ENST00000609040,;	T	ENST00000404158	Transcript	missense_variant	465/5776	47/1905	16/634	E/V	gAa/gTa		1		1	GATAD2A	HGNC	HGNC:29989	protein_coding	YES	CCDS77270.1	ENSP00000384899	Q86YP4	A0A024R7M6	UPI0000203849	NM_001300946.1	deleterious(0)		4/14		hmmpanther:PTHR13455,hmmpanther:PTHR13455:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	19465392	19465392	A	T	1	0	0	0	0	1	0	0	0	6130	246	9	4		4	GATAD2A	19	19465392	Missense_Mutation	SNP	A	11LU022_TP	569405	19465392	39152224	920	1592											
CILP2	0	.	GRCh38	chr19	19545935	19545935	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcacttggtgacatccgCagggagatgagcgaggcggc	10	5	16	10	3	0	3	0	2	0	1	1	5	1	3	1	4	2	2	1	4	0	1	novel		11LU022_TP	11LU022_NB	C	C																c.3390C>T	p.=	p.R1130R	ENST00000291495	8/8	36	23	13	78	78	0	strelka-varscan-mutect	CILP2,synonymous_variant,p.=,ENST00000586018,;CILP2,synonymous_variant,p.=,ENST00000291495,NM_153221.2;CILP2,downstream_gene_variant,,ENST00000588333,;	T	ENST00000291495	Transcript	synonymous_variant	3475/4199	3390/3471	1130/1156	R	cgC/cgT		1		1	CILP2	HGNC	HGNC:24213	protein_coding	YES	CCDS12405.1	ENSP00000291495	Q8IUL8		UPI000013E04D	NM_153221.2			8/8		hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF0																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	19545935	19545935	C	T	1	0	0	0	0	0	0	0	1	3192	697	25	3		3	CILP2	19	19545935	Silent	SNP	C	11LU022_TP	80543	19545935	39071681	921	1593											
ZNF208	0	.	GRCh38	chr19	21972370	21972370	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcttcacatttgtaGggtttctctccagtatgaat	9	16	6	10	0	3	1	1	1	2	0	5	1	4	1	2	1	0	3	2	1	3	6	novel		11LU022_TP	11LU022_NB	G	G																c.2664C>A	p.=	p.P888P	ENST00000397126	4/4	154	123	31	260	260	0	strelka-varscan-mutect	ZNF208,synonymous_variant,p.=,ENST00000397126,NM_007153.3;ZNF208,synonymous_variant,p.=,ENST00000609966,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;AC003973.3,upstream_gene_variant,,ENST00000624863,;	T	ENST00000397126	Transcript	synonymous_variant	2813/3992	2664/3843	888/1280	P	ccC/ccA		1		-1	ZNF208	HGNC	HGNC:12999	protein_coding	YES	CCDS54240.1	ENSP00000380315	O43345		UPI0001B23C28	NM_007153.3			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	LOW	1	SNV	3			1										PASS		rs1226235737	.												T	2	4	3	21972370	21972370	G	T	1	0	0	0	0	0	0	0	1	18343	987	35	2		2	ZNF208	19	21972370	Silent	SNP	G	11LU022_TP	2426435	21972370	36645246	922	1594											
ZNF98	0	.	GRCh38	chr19	22391988	22391988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtaaggtgtgagaaccggCtaaaggctttgctacatact	12	11	11	7	1	0	1	0	1	0	1	0	2	0	1	1	3	4	4	1	3	7	6	novel		11LU022_TP	11LU022_NB	C	C																c.1247G>T	p.Ser416Ile	p.S416I	ENST00000357774	4/4	41	33	8	89	89	0	strelka-varscan-mutect	ZNF98,missense_variant,p.Ser416Ile,ENST00000357774,NM_001098626.1;ZNF98,downstream_gene_variant,,ENST00000593657,;	A	ENST00000357774	Transcript	missense_variant	1369/2338	1247/1719	416/572	S/I	aGc/aTc		1		-1	ZNF98	HGNC	HGNC:13174	protein_coding	YES	CCDS46031.1	ENSP00000350418	A6NK75		UPI0000251DC5	NM_001098626.1	tolerated(0.1)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	3	22391988	22391988	C	A	1	0	0	0	0	1	0	0	0	18796	797	28	2		2	ZNF98	19	22391988	Missense_Mutation	SNP	C	11LU022_TP	419618	22391988	36225628	923	1595											
ZNF536	0	.	GRCh38	chr19	30548155	30548155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggggccttcaagggtctcCctggaatcgacttcagagga	8	8	15	10	1	3	1	2	0	1	1	5	4	3	3	2	6	0	0	2	6	2	2	novel		11LU022_TP	11LU022_NB	C	C																c.2536C>A	p.Pro846Thr	p.P846T	ENST00000355537	4/5	179	143	36	213	213	0	strelka-varscan-mutect	ZNF536,missense_variant,p.Pro846Thr,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.Pro846Thr,ENST00000585628,;ZNF536,upstream_gene_variant,,ENST00000592773,;	A	ENST00000355537	Transcript	missense_variant	2683/4945	2536/3903	846/1300	P/T	Cct/Act		1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	tolerated(0.11)		4/5		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	30548155	30548155	C	A	1	0	0	0	0	1	0	0	0	18547	623	22	2		2	ZNF536	19	30548155	Missense_Mutation	SNP	C	11LU022_TP	8156167	30548155	28069461	924	1596											
ANKRD27	0	.	GRCh38	chr19	32649694	32649694	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaatacctttccatttaaGgtctgaaaatgctcttccac	12	14	5	10	0	2	2	0	2	2	0	4	2	4	2	3	1	2	1	3	1	5	5	novel		11LU022_TP	11LU022_NB	G	G																c.201C>T	p.=	p.T67T	ENST00000306065	3/29	146	112	34	188	188	0	strelka-varscan-mutect	ANKRD27,synonymous_variant,p.=,ENST00000306065,NM_032139.2;ANKRD27,synonymous_variant,p.=,ENST00000587352,;ANKRD27,synonymous_variant,p.=,ENST00000590519,;ANKRD27,synonymous_variant,p.=,ENST00000586693,;ANKRD27,5_prime_UTR_variant,,ENST00000586463,;ANKRD27,synonymous_variant,p.=,ENST00000588700,;	A	ENST00000306065	Transcript	synonymous_variant	360/4450	201/3153	67/1050	T	acC/acT		1		-1	ANKRD27	HGNC	HGNC:25310	protein_coding	YES	CCDS32986.1	ENSP00000304292	Q96NW4		UPI000004FDE9	NM_032139.2			3/29		hmmpanther:PTHR24170,hmmpanther:PTHR24170:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	32649694	32649694	G	A	1	0	0	0	0	0	0	0	1	758	987	35	3		3	ANKRD27	19	32649694	Silent	SNP	G	11LU022_TP	2101539	32649694	25967922	925	1597											
WTIP	0	.	GRCh38	chr19	34493581	34493581	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacggggttcccttcaccgtGgacgtggagaacaacatcta	10	8	12	11	3	2	1	1	0	1	1	3	4	3	2	2	4	2	1	2	4	3	3	novel		11LU022_TP	11LU022_NB	G	G																c.990G>T	p.=	p.V330V	ENST00000590071	5/8	169	122	47	215	215	0	strelka-varscan-mutect	WTIP,synonymous_variant,p.=,ENST00000590071,NM_001080436.1;WTIP,synonymous_variant,p.=,ENST00000585928,;	T	ENST00000590071	Transcript	synonymous_variant	1327/13665	990/1293	330/430	V	gtG/gtT		1		1	WTIP	HGNC	HGNC:20964	protein_coding	YES	CCDS59375.1	ENSP00000466953	A6NIX2		UPI00006C19C5	NM_001080436.1			5/8		PROSITE_profiles:PS50023,hmmpanther:PTHR24219,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	3	34493581	34493581	G	T	1	0	0	0	0	0	0	0	1	17968	1335	47	2		2	WTIP	19	34493581	Silent	SNP	G	11LU022_TP	1843887	34493581	24124035	926	1598											
HPN	0	.	GRCh38	chr19	35060417	35060417	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcttgggccggtggccGtggcaagtcagccttcgcta	6	8	14	13	3	1	0	1	0	0	0	2	0	1	0	4	4	2	3	4	4	2	3	rs35890010		11LU022_TP	11LU022_NB	G	G																c.525G>C	p.=	p.P175P	ENST00000262626	8/13	327	259	68	380	380	0	strelka-varscan-mutect	HPN,synonymous_variant,p.=,ENST00000262626,NM_182983.2;HPN,synonymous_variant,p.=,ENST00000392226,NM_002151.2;HPN,intron_variant,,ENST00000597419,;HPN,downstream_gene_variant,,ENST00000600390,;HPN-AS1,intron_variant,,ENST00000392227,;HPN,downstream_gene_variant,,ENST00000600675,;HPN,non_coding_transcript_exon_variant,,ENST00000593305,;HPN,non_coding_transcript_exon_variant,,ENST00000599363,;HPN,non_coding_transcript_exon_variant,,ENST00000541345,;HPN,downstream_gene_variant,,ENST00000596662,;	C	ENST00000262626	Transcript	synonymous_variant	1350/2363	525/1254	175/417	P	ccG/ccC	rs35890010	1		1	HPN	HGNC	HGNC:5155	protein_coding	YES	CCDS32993.1	ENSP00000262626	P05981	A0A140VJK9	UPI000003FE67	NM_182983.2			8/13		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF130,SMART_domains:SM00020,Superfamily_domains:SSF50494																	LOW	1	SNV	1			1										PASS		rs35890010	.												C	2	2	3	35060417	35060417	G	C	1	0	0	0	0	0	0	0	1	7231	1132	40	4		4	HPN	19	35060417	Silent	SNP	G	11LU022_TP	566836	35060417	23557199	927	1599											
FFAR1	0	.	GRCh38	chr19	35351639	35351639	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcctggccatccgaggcGcgacggcccacgcccggctc	5	4	13	19	7	0	0	0	0	0	0	3	2	2	0	5	4	0	1	5	4	0	0	rs867765877		11LU022_TP	11LU022_NB	G	G																c.88G>C	p.Ala30Pro	p.A30P	ENST00000246553	1/1	146	112	34	196	196	0	strelka-varscan-mutect	FFAR1,missense_variant,p.Ala30Pro,ENST00000246553,NM_005303.2;CD22,downstream_gene_variant,,ENST00000085219,NM_001771.3;CD22,downstream_gene_variant,,ENST00000536635,NM_001185099.1;CD22,downstream_gene_variant,,ENST00000341773,NM_001185101.1;CD22,downstream_gene_variant,,ENST00000544992,NM_001185100.1;CD22,downstream_gene_variant,,ENST00000419549,NM_001278417.1;CD22,downstream_gene_variant,,ENST00000594250,;CD22,downstream_gene_variant,,ENST00000601769,;	C	ENST00000246553	Transcript	missense_variant	88/2311	88/903	30/300	A/P	Gcg/Ccg	rs867765877	1		1	FFAR1	HGNC	HGNC:4498	protein_coding	YES	CCDS12458.1	ENSP00000246553	O14842		UPI000005045B	NM_005303.2	tolerated(0.2)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF33,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs867765877	.												C	3	2	3	35351639	35351639	G	C	1	0	0	0	0	1	0	0	0	5690	1087	38	4		4	FFAR1	19	35351639	Missense_Mutation	SNP	G	11LU022_TP	291222	35351639	23265977	928	1600											
ATP4A	0	.	GRCh38	chr19	35560549	35560549	+	Frame_Shift_Del	DEL	G	G	-																															cccacctttcatctccaccaGgtcgcccaccaccagttggt																								novel		11LU022_TP	11LU022_NB	G	G																c.601delC	p.Leu201TrpfsTer4	p.L201Wfs*4	ENST00000262623	6/22	168	146	22	260	260	0	sindel-varindel-pindel	ATP4A,frameshift_variant,p.Leu201TrpfsTer4,ENST00000262623,NM_000704.2;ATP4A,upstream_gene_variant,,ENST00000592131,;ATP4A,upstream_gene_variant,,ENST00000592767,;ATP4A,downstream_gene_variant,,ENST00000590916,;	-	ENST00000262623	Transcript	frameshift_variant	630/3709	601/3108	201/1035	L/X	Ctg/tg		1		-1	ATP4A	HGNC	HGNC:819	protein_coding	YES	CCDS12467.1	ENSP00000262623	P20648		UPI000016A49B	NM_000704.2			6/22		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01106,Gene3D:2.70.150.10,Superfamily_domains:0049471																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	3	35560549	35560549	G	-	1	0	1	0	1	0	0	0	0	1298	991	35	0		0	ATP4A	19	35560549	Frame_Shift_Del	DEL	G	11LU022_TP	208910	35560549	23057067	929	1601											
PRODH2	0	.	GRCh38	chr19	35800073	35800073	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcatcctggcagcagccGccgccacagttcttggctga	6	8	12	15	3	1	1	0	1	1	0	3	1	2	1	4	3	2	5	4	3	0	2	rs752268187		11LU022_TP	11LU022_NB	G	G																c.1576C>A	p.=	p.R526R	ENST00000301175	11/11	109	86	23	121	121	0	strelka-varscan-mutect	PRODH2,synonymous_variant,p.=,ENST00000301175,NM_021232.1;PRODH2,3_prime_UTR_variant,,ENST00000588266,;PRODH2,downstream_gene_variant,,ENST00000589835,;LINC01529,upstream_gene_variant,,ENST00000433059,;LINC01529,upstream_gene_variant,,ENST00000637365,;LINC01529,upstream_gene_variant,,ENST00000564335,;LINC01529,upstream_gene_variant,,ENST00000637448,;LINC01529,upstream_gene_variant,,ENST00000567313,;PRODH2,non_coding_transcript_exon_variant,,ENST00000587695,;PRODH2,non_coding_transcript_exon_variant,,ENST00000587808,;LINC01529,upstream_gene_variant,,ENST00000636474,;	T	ENST00000301175	Transcript	synonymous_variant	1594/1677	1576/1611	526/536	R	Cgg/Agg	rs752268187	1		-1	PRODH2	HGNC	HGNC:17325	protein_coding	YES	CCDS12478.1	ENSP00000301175	Q9UF12		UPI000006EE59	NM_021232.1			11/11		hmmpanther:PTHR13914,hmmpanther:PTHR13914:SF5,Gene3D:3.20.20.220,Superfamily_domains:SSF51730																	LOW	1	SNV	1			1										PASS		rs752268187	.												T	2	4	3	35800073	35800073	G	T	1	0	0	0	0	0	0	0	1	12682	1086	38	1		1	PRODH2	19	35800073	Silent	SNP	G	11LU022_TP	239524	35800073	22817543	930	1602											
APLP1	0	.	GRCh38	chr19	35872509	35872509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccgaggcccacagacGgtgtggatatttactttggc	8	9	11	13	2	0	1	0	0	0	1	0	3	0	2	4	4	1	0	4	4	2	4	rs775640224		11LU022_TP	11LU022_NB	G	G																c.877G>C	p.Gly293Arg	p.G293R	ENST00000221891	7/17	114	104	10	135	135	0	strelka-varscan-mutect	APLP1,missense_variant,p.Gly293Arg,ENST00000221891,NM_005166.3,NM_001024807.1;APLP1,missense_variant,p.Gly254Arg,ENST00000537454,;APLP1,missense_variant,p.Gly287Arg,ENST00000586861,;APLP1,missense_variant,p.Gly196Arg,ENST00000592316,;APLP1,upstream_gene_variant,,ENST00000587274,;APLP1,upstream_gene_variant,,ENST00000588808,;APLP1,downstream_gene_variant,,ENST00000589743,;NPHS1,upstream_gene_variant,,ENST00000591817,;APLP1,upstream_gene_variant,,ENST00000589298,;APLP1,3_prime_UTR_variant,,ENST00000590561,;	C	ENST00000221891	Transcript	missense_variant	1069/2495	877/1956	293/651	G/R	Ggt/Cgt	rs775640224,COSM3783228	1		1	APLP1	HGNC	HGNC:597	protein_coding	YES	CCDS32997.1	ENSP00000221891	P51693		UPI000020215E	NM_005166.3,NM_001024807.1	tolerated(0.09)		7/17		hmmpanther:PTHR23103,Pfam_domain:PF12925,Superfamily_domains:0043391											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs775640224	.												C	3	2	3	35872509	35872509	G	C	1	0	0	0	0	1	0	0	0	900	1116	39	4		4	APLP1	19	35872509	Missense_Mutation	SNP	G	11LU022_TP	72436	35872509	22745107	931	1603											
SYNE4	0	.	GRCh38	chr19	36006865	36006865	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaggccctgggctcaCtccgctgtgccagcccctca	4	7	10	20	1	2	0	2	0	0	0	3	0	3	0	6	2	3	2	6	2	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.503G>C	p.Ser168Thr	p.S168T	ENST00000324444	4/8	166	148	18	203	203	0	strelka-varscan-mutect	SYNE4,missense_variant,p.Ser168Thr,ENST00000324444,NM_001039876.1;SYNE4,missense_variant,p.Ser168Thr,ENST00000490730,;SYNE4,intron_variant,,ENST00000340477,NM_001297735.1;SYNE4,intron_variant,,ENST00000503121,;SYNE4,intron_variant,,ENST00000397428,;ALKBH6,downstream_gene_variant,,ENST00000486389,;ALKBH6,downstream_gene_variant,,ENST00000378875,NM_032878.3,NM_198867.1;ALKBH6,downstream_gene_variant,,ENST00000485128,;ALKBH6,downstream_gene_variant,,ENST00000252984,NM_001297701.1;ALKBH6,downstream_gene_variant,,ENST00000495116,;SYNE4,non_coding_transcript_exon_variant,,ENST00000465425,;SYNE4,intron_variant,,ENST00000505054,;ALKBH6,downstream_gene_variant,,ENST00000471323,;AC002116.8,downstream_gene_variant,,ENST00000473572,;ALKBH6,downstream_gene_variant,,ENST00000392183,;ALKBH6,downstream_gene_variant,,ENST00000490986,;ALKBH6,downstream_gene_variant,,ENST00000490483,;ALKBH6,downstream_gene_variant,,ENST00000468004,;ALKBH6,downstream_gene_variant,,ENST00000461668,;ALKBH6,downstream_gene_variant,,ENST00000497999,;ALKBH6,downstream_gene_variant,,ENST00000462793,;ALKBH6,downstream_gene_variant,,ENST00000475223,;ALKBH6,downstream_gene_variant,,ENST00000466196,;ALKBH6,downstream_gene_variant,,ENST00000481257,;ALKBH6,downstream_gene_variant,,ENST00000592353,;ALKBH6,downstream_gene_variant,,ENST00000590666,;	G	ENST00000324444	Transcript	missense_variant	615/1354	503/1215	168/404	S/T	aGt/aCt		1		-1	SYNE4	HGNC	HGNC:26703	protein_coding	YES	CCDS42553.1	ENSP00000316130	Q8N205		UPI00006CA35A	NM_001039876.1	tolerated(0.05)		4/8		hmmpanther:PTHR21640,hmmpanther:PTHR21640:SF1																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	3	36006865	36006865	C	G	1	0	0	0	0	1	0	0	0	15840	565	20	4		4	SYNE4	19	36006865	Missense_Mutation	SNP	C	11LU022_TP	134356	36006865	22610751	932	1604											
ZNF382	0	.	GRCh38	chr19	36627539	36627539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcacaaggtagaaaccacgGgaattcagtaagtaatgtgg	15	8	11	7	1	2	1	2	0	0	1	2	2	2	2	1	3	1	3	1	3	6	4	novel		11LU022_TP	11LU022_NB	G	G																c.1642G>A	p.Gly548Arg	p.G548R	ENST00000292928	5/5	73	66	7	96	96	0	strelka-varscan-mutect	ZNF382,missense_variant,p.Gly548Arg,ENST00000292928,NM_032825.4;ZNF382,missense_variant,p.Gly547Arg,ENST00000435416,;ZNF382,missense_variant,p.Gly547Arg,ENST00000439428,NM_001256838.1;ZNF382,missense_variant,p.Gly499Arg,ENST00000423582,;ZNF382,downstream_gene_variant,,ENST00000590785,;ZNF382,upstream_gene_variant,,ENST00000585467,;	A	ENST00000292928	Transcript	missense_variant	1755/8329	1642/1653	548/550	G/R	Gga/Aga		1		1	ZNF382	HGNC	HGNC:17409	protein_coding	YES	CCDS33004.1	ENSP00000292928	Q96SR6		UPI000013E0E2	NM_032825.4	tolerated_low_confidence(0.8)		5/5		hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	36627539	36627539	G	A	1	0	0	0	0	1	0	0	0	18445	1233	43	3		3	ZNF382	19	36627539	Missense_Mutation	SNP	G	11LU022_TP	620674	36627539	21990077	933	1605											
DLL3	0	.	GRCh38	chr19	39507928	39507928	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgggaggtagcgacgccccTtttccccccgctacacactg	6	8	10	17	4	0	0	0	0	0	0	2	2	1	1	5	2	2	2	5	2	2	4			11LU022_TP	11LU022_NB	T	T																c.1772T>A	p.Leu591His	p.L591H	ENST00000205143	8/8	269	194	75	350	350	0	strelka-varscan-mutect	DLL3,missense_variant,p.Leu591His,ENST00000205143,NM_016941.3;DLL3,intron_variant,,ENST00000356433,NM_203486.2;DLL3,downstream_gene_variant,,ENST00000596614,;DLL3,downstream_gene_variant,,ENST00000600437,;	A	ENST00000205143	Transcript	missense_variant	1779/2332	1772/1857	591/618	L/H	cTt/cAt	COSM5056639	1		1	DLL3	HGNC	HGNC:2909	protein_coding	YES	CCDS12538.1	ENSP00000205143	Q9NYJ7		UPI0000051041	NM_016941.3	tolerated(0.24)		8/8													1						MODERATE	1	SNV	1		1	1										PASS		rs1164056815	.												A	3	1	3	39507928	39507928	T	A	1	0	0	0	0	1	0	0	0	4374	1609	56	4		4	DLL3	19	39507928	Missense_Mutation	SNP	T	11LU022_TP	2880389	39507928	19109688	934	1606											
ZNF780A	0	.	GRCh38	chr19	40081883	40081883	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttctcttgctctagtaaCgtaattacatctggtttaga	9	18	6	8	1	4	1	0	0	4	1	5	1	4	1	0	1	3	4	0	1	5	8	rs150224403		11LU022_TP	11LU022_NB	C	C																c.171G>T	p.=	p.T57T	ENST00000455521	5/6	190	177	13	206	206	0	strelka-varscan-mutect	ZNF780A,synonymous_variant,p.=,ENST00000450241,;ZNF780A,synonymous_variant,p.=,ENST00000340963,NM_001010880.2,NM_001142578.1;ZNF780A,synonymous_variant,p.=,ENST00000455521,NM_001142577.1;ZNF780A,synonymous_variant,p.=,ENST00000595687,;ZNF780A,synonymous_variant,p.=,ENST00000414720,NM_001142579.1;ZNF780A,synonymous_variant,p.=,ENST00000594395,;ZNF780A,synonymous_variant,p.=,ENST00000595773,;ZNF780A,synonymous_variant,p.=,ENST00000599972,;AC005614.5,non_coding_transcript_exon_variant,,ENST00000595508,;ZNF780A,synonymous_variant,p.=,ENST00000599368,;ZNF780A,synonymous_variant,p.=,ENST00000601688,;ZNF780A,synonymous_variant,p.=,ENST00000601715,;	A	ENST00000455521	Transcript	synonymous_variant	319/3600	171/1929	57/642	T	acG/acT	rs150224403	1		-1	ZNF780A	HGNC	HGNC:27603	protein_coding	YES	CCDS46079.1	ENSP00000400997	O75290		UPI0001881B53	NM_001142577.1			5/6		Superfamily_domains:0044637,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF313,SMART_domains:SM00349																	LOW	1	SNV	5			1										PASS		rs150224403	.												A	2	1	3	40081883	40081883	C	A	1	0	0	0	0	0	0	0	1	18735	523	19	1		1	ZNF780A	19	40081883	Silent	SNP	C	11LU022_TP	573955	40081883	18535733	935	1607											
PSG3	0	.	GRCh38	chr19	42729238	42729238	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggataaagagcttttgTcctgatagctgaaacttccc	10	12	11	8	0	0	3	0	2	0	1	2	4	2	4	2	2	3	2	2	2	4	5	rs146855604		11LU022_TP	11LU022_NB	T	T																c.1128A>G	p.=	p.G376G	ENST00000327495	5/7	334	290	44	369	369	0	strelka-varscan-mutect	PSG3,synonymous_variant,p.=,ENST00000327495,NM_021016.3;PSG3,synonymous_variant,p.=,ENST00000595140,;PSG3,synonymous_variant,p.=,ENST00000614582,;PSG3,downstream_gene_variant,,ENST00000490592,;PSG3,intron_variant,,ENST00000594378,;PSG3,downstream_gene_variant,,ENST00000597009,;	C	ENST00000327495	Transcript	synonymous_variant	1313/1961	1128/1287	376/428	G	ggA/ggG	rs146855604	1		-1	PSG3	HGNC	HGNC:9520	protein_coding	YES	CCDS12611.1	ENSP00000332215	Q16557		UPI0000073DC1	NM_021016.3			5/7		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF669,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs146855604	.												C	2	2	3	42729238	42729238	T	C	1	0	0	0	0	0	0	0	1	12807	1654	58	5		5	PSG3	19	42729238	Silent	SNP	T	11LU022_TP	2647355	42729238	15888378	936	1608											
PSG11	0	.	GRCh38	chr19	43024794	43024794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcctcccgggtgacattctgGatcagcagggatgcattgga	8	10	13	10	1	2	1	1	1	1	0	4	4	4	4	2	4	2	2	2	4	0	2			11LU022_TP	11LU022_NB	G	G																c.327C>G	p.Ile109Met	p.I109M	ENST00000320078	2/6	114	85	29	163	163	0	strelka-varscan-mutect	PSG11,missense_variant,p.Ile109Met,ENST00000320078,NM_002785.2;PSG11,missense_variant,p.Ile109Met,ENST00000598133,;PSG11,intron_variant,,ENST00000403486,NM_203287.1,NM_001113410.1;PSG11,intron_variant,,ENST00000306322,;CTC-490G23.6,intron_variant,,ENST00000635495,;PSG11,missense_variant,p.Ile73Met,ENST00000593983,;PSG11,non_coding_transcript_exon_variant,,ENST00000595138,;PSG11,non_coding_transcript_exon_variant,,ENST00000594655,;PSG11,non_coding_transcript_exon_variant,,ENST00000597093,;PSG11,non_coding_transcript_exon_variant,,ENST00000599245,;PSG11,intron_variant,,ENST00000488205,;	C	ENST00000320078	Transcript	missense_variant	467/1575	327/1008	109/335	I/M	atC/atG	COSM3288540	1		-1	PSG11	HGNC	HGNC:9516	protein_coding	YES	CCDS12614.2	ENSP00000319140	Q9UQ72		UPI000004EE8C	NM_002785.2	deleterious(0.05)		2/6		hmmpanther:PTHR10489:SF615,hmmpanther:PTHR10489,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	2		1	1										PASS		rs1341871273	.												C	3	2	3	43024794	43024794	G	C	1	0	0	0	0	1	0	0	0	12805	1164	41	4		4	PSG11	19	43024794	Missense_Mutation	SNP	G	11LU022_TP	295556	43024794	15592822	937	1609											
PSG5	0	.	GRCh38	chr19	43184977	43184977	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctactacatatgatgtaaTgtaatggtagaggtccatca	13	13	9	6	0	2	2	1	1	1	1	3	2	3	2	1	2	2	3	1	2	6	6	novel		11LU022_TP	11LU022_NB	T	T																c.235A>G	p.Ile79Val	p.I79V	ENST00000366175	2/6	180	135	45	231	230	1	strelka-varscan-mutect	PSG5,missense_variant,p.Ile79Val,ENST00000404580,;PSG5,missense_variant,p.Ile79Val,ENST00000599812,;PSG5,missense_variant,p.Ile79Val,ENST00000366175,;PSG5,missense_variant,p.Ile79Val,ENST00000342951,NM_001130014.1,NM_002781.3;PSG5,missense_variant,p.Ile79Val,ENST00000407356,;PSG5,missense_variant,p.Ile79Val,ENST00000407568,;PSG5,non_coding_transcript_exon_variant,,ENST00000401992,;PSG5,upstream_gene_variant,,ENST00000489220,;PSG5,non_coding_transcript_exon_variant,,ENST00000600817,;	C	ENST00000366175	Transcript	missense_variant	366/1766	235/1008	79/335	I/V	Att/Gtt		1		-1	PSG5	HGNC	HGNC:9522	protein_coding	YES	CCDS12617.1	ENSP00000382334	Q15238	A0A024R0S1	UPI000013C7B9		deleterious(0.03)		2/6		Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	3	43184977	43184977	T	C	1	0	0	0	0	1	0	0	0	12809	1464	51	5		5	PSG5	19	43184977	Missense_Mutation	SNP	T	11LU022_TP	160183	43184977	15432639	938	1610											
PHLDB3	0	.	GRCh38	chr19	43501751	43501751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctgttcccgctgctggcGgccgcgctgctccgaggccg	2	7	15	17	6	0	0	0	0	0	0	2	2	2	0	5	3	2	5	5	3	0	1	rs148749895		11LU022_TP	11LU022_NB	G	G																c.517C>T	p.Arg173Cys	p.R173C	ENST00000292140	4/16	268	207	61	306	306	0	strelka-varscan-mutect	PHLDB3,missense_variant,p.Arg173Cys,ENST00000292140,NM_198850.3;PHLDB3,missense_variant,p.Arg173Cys,ENST00000599242,;ETHE1,downstream_gene_variant,,ENST00000292147,NM_014297.3;PHLDB3,upstream_gene_variant,,ENST00000600660,;PHLDB3,downstream_gene_variant,,ENST00000594808,;PHLDB3,downstream_gene_variant,,ENST00000601646,;PHLDB3,non_coding_transcript_exon_variant,,ENST00000596902,;	A	ENST00000292140	Transcript	missense_variant	878/2591	517/1923	173/640	R/C	Cgc/Tgc	rs148749895,COSM3692835,COSM3692836	1		-1	PHLDB3	HGNC	HGNC:30499	protein_coding	YES	CCDS12621.2	ENSP00000292140	Q6NSJ2		UPI00015C725F	NM_198850.3	tolerated(0.06)		4/16		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12156:SF22,hmmpanther:PTHR12156											0,1,1						MODERATE		SNV	5		0,1,1	1										PASS		rs148749895	.												A	3	1	3	43501751	43501751	G	A	1	0	0	0	0	1	0	0	0	11941	1116	39	1		1	PHLDB3	19	43501751	Missense_Mutation	SNP	G	11LU022_TP	316774	43501751	15115865	939	1611											
ZNF226	0	.	GRCh38	chr19	44176619	44176619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctataaatgtgaggaatgtGgtaaaggctttagtcggcct	11	12	12	6	1	0	1	0	1	0	0	1	2	0	2	2	4	0	2	2	4	7	5	rs548204072		11LU022_TP	11LU022_NB	G	G																c.1357G>T	p.Gly453Cys	p.G453C	ENST00000590089	7/7	135	119	16	160	160	0	strelka-varscan-mutect	ZNF226,missense_variant,p.Gly453Cys,ENST00000590089,NM_016444.2;ZNF226,missense_variant,p.Gly453Cys,ENST00000454662,NM_001319090.1,NM_001319089.1,NM_001319088.1,NM_001032372.1;ZNF226,missense_variant,p.Gly453Cys,ENST00000337433,NM_001032373.1;ZNF226,3_prime_UTR_variant,,ENST00000588883,;ZNF226,downstream_gene_variant,,ENST00000300823,NM_015919.3;ZNF226,downstream_gene_variant,,ENST00000413984,NM_001032374.1;ZNF226,downstream_gene_variant,,ENST00000589160,;ZNF226,downstream_gene_variant,,ENST00000588795,;ZNF226,downstream_gene_variant,,ENST00000590524,;ZNF226,downstream_gene_variant,,ENST00000585678,;ZNF226,downstream_gene_variant,,ENST00000586914,;ZNF226,downstream_gene_variant,,ENST00000588127,;ZNF226,downstream_gene_variant,,ENST00000586203,;ZNF226,downstream_gene_variant,,ENST00000590578,;ZNF226,downstream_gene_variant,,ENST00000590467,;ZNF226,downstream_gene_variant,,ENST00000586286,;ZNF226,downstream_gene_variant,,ENST00000585560,;ZNF226,downstream_gene_variant,,ENST00000588742,NM_001146220.2;ZNF226,downstream_gene_variant,,ENST00000590759,;	T	ENST00000590089	Transcript	missense_variant	1724/2788	1357/2412	453/803	G/C	Ggt/Tgt	rs548204072	1		1	ZNF226	HGNC	HGNC:13019	protein_coding	YES	CCDS46102.1	ENSP00000465121	Q9NYT6	A0A024R0P4	UPI000013C32A	NM_016444.2	deleterious(0)		7/7		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF177,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs548204072	.												T	3	4	3	44176619	44176619	G	T	1	0	0	0	0	1	0	0	0	18357	1348	47	2		2	ZNF226	19	44176619	Missense_Mutation	SNP	G	11LU022_TP	674868	44176619	14440997	940	1612											
APOE	0	.	GRCh38	chr19	44909068	44909068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagcaggtggcggaggtgCgcgccaagctggaggagcag	9	3	21	8	3	0	0	0	0	0	0	0	4	0	4	1	7	4	3	1	7	1	0	novel		11LU022_TP	11LU022_NB	C	C																c.772C>A	p.Arg258Ser	p.R258S	ENST00000252486	4/4	396	309	87	452	452	0	strelka-varscan-mutect	APOE,missense_variant,p.Arg258Ser,ENST00000252486,NM_000041.3,NM_001302691.1,NM_001302689.1,NM_001302690.1;APOE,downstream_gene_variant,,ENST00000425718,;APOE,downstream_gene_variant,,ENST00000434152,NM_001302688.1;APOE,downstream_gene_variant,,ENST00000446996,;CTB-129P6.7,upstream_gene_variant,,ENST00000623895,;APOE,downstream_gene_variant,,ENST00000485628,;	A	ENST00000252486	Transcript	missense_variant	883/1208	772/954	258/317	R/S	Cgc/Agc		1		1	APOE	HGNC	HGNC:613	protein_coding	YES	CCDS12647.1	ENSP00000252486	P02649	A0A0S2Z3D5	UPI0000044948	NM_000041.3,NM_001302691.1,NM_001302689.1,NM_001302690.1	deleterious(0)		4/4		Superfamily_domains:0053393,Gene3D:1.20.120.20,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01442,hmmpanther:PTHR18976,hmmpanther:PTHR18976:SF2																	MODERATE	1	SNV	1			1										PASS		rs1003367097	.												A	3	1	3	44909068	44909068	C	A	1	0	0	0	0	1	0	0	0	924	768	27	1		1	APOE	19	44909068	Missense_Mutation	SNP	C	11LU022_TP	732449	44909068	13708548	941	1613											
CKM	0	.	GRCh38	chr19	45311897	45311897	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggtagtacttccctttgaActcgcccgtcaggctgttga	7	12	11	11	2	1	2	1	2	0	0	3	2	2	2	2	2	2	4	2	2	3	5	rs746579943		11LU022_TP	11LU022_NB	A	A																c.505T>A	p.Phe169Ile	p.F169I	ENST00000221476	5/8	354	315	39	432	432	0	strelka-varscan-mutect	CKM,missense_variant,p.Phe169Ile,ENST00000221476,NM_001824.4;	T	ENST00000221476	Transcript	missense_variant	680/1657	505/1146	169/381	F/I	Ttc/Atc	rs746579943	1		-1	CKM	HGNC	HGNC:1994	protein_coding	YES	CCDS12659.1	ENSP00000221476	P06732		UPI000012DCC3	NM_001824.4	deleterious(0)		5/8		PROSITE_profiles:PS51510,hmmpanther:PTHR11547:SF31,hmmpanther:PTHR11547,Gene3D:3.30.590.10,Pfam_domain:PF00217,Superfamily_domains:SSF55931																	MODERATE	1	SNV	1			1										PASS		rs746579943	.												T	3	4	3	45311897	45311897	A	T	1	0	0	0	0	1	0	0	0	3211	43	2	4		4	CKM	19	45311897	Missense_Mutation	SNP	A	11LU022_TP	402829	45311897	13305719	942	1614											
NANOS2	0	.	GRCh38	chr19	45914399	45914399	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	accggtggccccgcacacggGacacacgtagtgcctcagga	9	4	13	15	4	1	0	1	0	0	0	1	2	1	2	4	4	1	2	4	4	1	1	novel		11LU022_TP	11LU022_NB	G	G																c.295C>G	p.Pro99Ala	p.P99A	ENST00000341294	1/1	213	190	23	266	266	0	strelka-varscan-mutect	NANOS2,missense_variant,p.Pro99Ala,ENST00000341294,NM_001029861.2;	C	ENST00000341294	Transcript	missense_variant	472/1657	295/417	99/138	P/A	Ccc/Gcc		1		-1	NANOS2	HGNC	HGNC:23292	protein_coding	YES	CCDS33056.1	ENSP00000341021	P60321		UPI00001984F7	NM_001029861.2	deleterious(0)		1/1		PROSITE_profiles:PS51522,hmmpanther:PTHR12887,hmmpanther:PTHR12887:SF7,Pfam_domain:PF05741																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	3	45914399	45914399	G	C	1	0	0	0	0	1	0	0	0	10161	1174	41	4		4	NANOS2	19	45914399	Missense_Mutation	SNP	G	11LU022_TP	602502	45914399	12703217	943	1615											
SULT2B1	0	.	GRCh38	chr19	48587237	48587237	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccaacaggcacgaccTggatgatcgagatcatctgc	10	9	9	13	2	3	2	1	1	2	1	5	5	3	3	2	2	2	1	2	2	1	1	novel		11LU022_TP	11LU022_NB	T	T																c.223T>A	p.Trp75Arg	p.W75R	ENST00000201586	3/7	72	63	9	96	96	0	strelka-varscan-mutect	SULT2B1,missense_variant,p.Trp60Arg,ENST00000323090,NM_004605.2;SULT2B1,missense_variant,p.Trp75Arg,ENST00000201586,NM_177973.1;SULT2B1,upstream_gene_variant,,ENST00000594274,;	A	ENST00000201586	Transcript	missense_variant	401/1295	223/1098	75/365	W/R	Tgg/Agg		1		1	SULT2B1	HGNC	HGNC:11459	protein_coding	YES	CCDS12723.1	ENSP00000201586	O00204		UPI0000073F98	NM_177973.1	deleterious(0)		3/7		hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF9,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	48587237	48587237	T	A	1	0	0	0	0	1	0	0	0	15768	1580	55	4		4	SULT2B1	19	48587237	Missense_Mutation	SNP	T	11LU022_TP	2672838	48587237	10030379	944	1616											
SLC6A16	0	.	GRCh38	chr19	49310469	49310469	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagagaagaggaacccCgaccaggaacagcatgaaga	18	1	13	9	1	0	4	0	1	0	3	0	9	0	7	3	3	3	1	3	3	5	0	rs765324085		11LU022_TP	11LU022_NB	C	C																c.457G>T	p.Gly153Trp	p.G153W	ENST00000335875	3/12	198	133	65	230	230	0	strelka-varscan-mutect	SLC6A16,missense_variant,p.Gly153Trp,ENST00000454748,;SLC6A16,missense_variant,p.Gly153Trp,ENST00000335875,NM_014037.2;SLC6A16,intron_variant,,ENST00000598828,;SLC6A16,upstream_gene_variant,,ENST00000597969,;SLC6A16,upstream_gene_variant,,ENST00000594180,;SLC6A16,upstream_gene_variant,,ENST00000594917,;MIR4324,upstream_gene_variant,,ENST00000584846,;SLC6A16,intron_variant,,ENST00000598221,;	A	ENST00000335875	Transcript	missense_variant	699/2938	457/2211	153/736	G/W	Ggg/Tgg	rs765324085,COSM5471079	1		-1	SLC6A16	HGNC	HGNC:13622	protein_coding	YES	CCDS42590.1	ENSP00000338627	Q9GZN6		UPI00001305CE	NM_014037.2	deleterious(0)		3/12		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF113,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs765324085	.												A	3	1	3	49310469	49310469	C	A	1	0	0	0	0	1	0	0	0	14962	652	23	1		1	SLC6A16	19	49310469	Missense_Mutation	SNP	C	11LU022_TP	723232	49310469	9307147	945	1617											
BCL2L12	0	.	GRCh38	chr19	49670248	49670248	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgccctgcgcagcaagctGgtccgcctgtcctccgactc	4	7	10	20	4	0	0	0	0	0	0	4	1	3	0	6	1	3	3	6	1	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.714G>T	p.=	p.L238L	ENST00000616144	6/7	603	415	188	707	707	0	strelka-varscan-mutect	BCL2L12,synonymous_variant,p.=,ENST00000616144,NM_138639.1;BCL2L12,synonymous_variant,p.=,ENST00000246785,;BCL2L12,synonymous_variant,p.=,ENST00000441864,NM_001040668.1;BCL2L12,synonymous_variant,p.=,ENST00000246784,;BCL2L12,intron_variant,,ENST00000619007,NM_001282520.1,NM_001282516.1,NM_001282519.1;BCL2L12,intron_variant,,ENST00000614495,NM_001282521.1;BCL2L12,intron_variant,,ENST00000611631,;BCL2L12,intron_variant,,ENST00000600947,;BCL2L12,intron_variant,,ENST00000594157,NM_001282517.1;BCL2L12,intron_variant,,ENST00000598306,;IRF3,upstream_gene_variant,,ENST00000597198,;IRF3,upstream_gene_variant,,ENST00000377139,NM_001571.5;IRF3,upstream_gene_variant,,ENST00000601291,NM_001197122.1;IRF3,upstream_gene_variant,,ENST00000593922,NM_001197123.1;IRF3,upstream_gene_variant,,ENST00000598808,;IRF3,upstream_gene_variant,,ENST00000377135,NM_001197125.1;IRF3,upstream_gene_variant,,ENST00000598108,;IRF3,upstream_gene_variant,,ENST00000599144,NM_001197126.1;IRF3,upstream_gene_variant,,ENST00000599223,NM_001197124.1;IRF3,upstream_gene_variant,,ENST00000596756,;IRF3,upstream_gene_variant,,ENST00000593818,;IRF3,upstream_gene_variant,,ENST00000600022,NM_001197127.1;IRF3,upstream_gene_variant,,ENST00000596822,;IRF3,upstream_gene_variant,,ENST00000601809,;IRF3,upstream_gene_variant,,ENST00000595034,;IRF3,upstream_gene_variant,,ENST00000596765,NM_001197128.1;IRF3,upstream_gene_variant,,ENST00000600453,;IRF3,upstream_gene_variant,,ENST00000601373,;IRF3,upstream_gene_variant,,ENST00000593337,;BCL2L12,upstream_gene_variant,,ENST00000594793,;IRF3,upstream_gene_variant,,ENST00000597180,;BCL2L12,3_prime_UTR_variant,,ENST00000598979,;IRF3,upstream_gene_variant,,ENST00000597636,;IRF3,upstream_gene_variant,,ENST00000594387,;BCL2L12,downstream_gene_variant,,ENST00000601168,;	T	ENST00000616144	Transcript	synonymous_variant	1396/1854	714/1005	238/334	L	ctG/ctT		1		1	BCL2L12	HGNC	HGNC:13787	protein_coding	YES	CCDS12776.1	ENSP00000482218	Q9HB09		UPI00001267BC	NM_138639.1			6/7		hmmpanther:PTHR14965																	LOW	1	SNV	1			1										PASS		rs1457903134	.												T	2	4	3	49670248	49670248	G	T	1	0	0	0	0	0	0	0	1	1517	1335	47	2		2	BCL2L12	19	49670248	Silent	SNP	G	11LU022_TP	359779	49670248	8947368	946	1618											
MYBPC2	0	.	GRCh38	chr19	50435187	50435187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggcccccaaaggcaaaGatgcccccaaaggagccccc	15	1	9	16	0	0	1	0	0	0	1	0	2	0	2	6	3	2	1	6	3	5	0	novel		11LU022_TP	11LU022_NB	G	G																c.46G>T	p.Asp16Tyr	p.D16Y	ENST00000357701	2/28	218	192	26	259	259	0	strelka-varscan-mutect	MYBPC2,missense_variant,p.Asp16Tyr,ENST00000357701,NM_004533.3;SPIB,downstream_gene_variant,,ENST00000595883,NM_001244000.1,NM_003121.4;SPIB,downstream_gene_variant,,ENST00000439922,NM_001243998.1;	T	ENST00000357701	Transcript	missense_variant	97/3593	46/3426	16/1141	D/Y	Gat/Tat		1		1	MYBPC2	HGNC	HGNC:7550	protein_coding	YES	CCDS46152.1	ENSP00000350332	Q14324	A0A140VJQ0	UPI000013C628	NM_004533.3	deleterious(0.01)		2/28		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	50435187	50435187	G	T	1	0	0	0	0	1	0	0	0	10012	942	33	2		2	MYBPC2	19	50435187	Missense_Mutation	SNP	G	11LU022_TP	764939	50435187	8182429	947	1619											
KLK2	0	.	GRCh38	chr19	50874817	50874817	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtacagtcatggatgggCacactgtgggggtgtcctgg	6	11	17	7	0	1	0	1	0	0	0	2	1	2	1	1	5	1	2	1	5	1	1	rs758680373		11LU022_TP	11LU022_NB	C	C																c.143C>A	p.Ala48Glu	p.A48E	ENST00000325321	2/5	115	106	9	123	122	1	strelka-varscan-mutect	KLK2,missense_variant,p.Ala48Glu,ENST00000325321,NM_005551.4;KLK2,missense_variant,p.Ala48Glu,ENST00000358049,NM_001002231.2;KLK2,missense_variant,p.Ala48Glu,ENST00000600690,;KLK2,5_prime_UTR_variant,,ENST00000593493,;KLK2,intron_variant,,ENST00000391810,NM_001256080.1;KLK2,upstream_gene_variant,,ENST00000599568,;KLK2,non_coding_transcript_exon_variant,,ENST00000597509,;KLK2,intron_variant,,ENST00000596950,;KLK2,missense_variant,p.Ala48Glu,ENST00000597439,;KLK2,missense_variant,p.Ala48Glu,ENST00000594174,;KLK2,non_coding_transcript_exon_variant,,ENST00000600755,;KLK2,non_coding_transcript_exon_variant,,ENST00000595375,;KLK2,intron_variant,,ENST00000600866,;KLK2,intron_variant,,ENST00000599280,;KLK2,intron_variant,,ENST00000599121,;KLK2,intron_variant,,ENST00000595316,;KLK2,intron_variant,,ENST00000597727,;KLK2,upstream_gene_variant,,ENST00000595173,;KLK2,downstream_gene_variant,,ENST00000601743,;KLK2,upstream_gene_variant,,ENST00000601114,;KLK2,upstream_gene_variant,,ENST00000597461,;KLK2,upstream_gene_variant,,ENST00000595050,;KLK2,upstream_gene_variant,,ENST00000597911,;	A	ENST00000325321	Transcript	missense_variant	368/3019	143/786	48/261	A/E	gCa/gAa	rs758680373	1		1	KLK2	HGNC	HGNC:6363	protein_coding	YES	CCDS12808.1	ENSP00000313581	P20151	A0A024R4J4	UPI000004CA0C	NM_005551.4	tolerated(0.1)		2/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF139,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs758680373	.												A	3	1	3	50874817	50874817	C	A	1	0	0	0	0	1	0	0	0	8273	710	25	2		2	KLK2	19	50874817	Missense_Mutation	SNP	C	11LU022_TP	439630	50874817	7742799	948	1620											
KLK8	0	.	GRCh38	chr19	50996124	50996124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgttggtatagacgcCaggtttgtcggacctcccac	8	10	12	11	2	0	2	0	0	0	2	2	3	1	3	3	3	0	4	3	3	2	4			11LU022_TP	11LU022_NB	C	C																c.853G>T	p.Gly285Cys	p.G285C	ENST00000391806	6/6	202	155	47	223	223	0	strelka-varscan-mutect	KLK8,missense_variant,p.Gly240Cys,ENST00000600767,NM_007196.3;KLK8,missense_variant,p.Gly285Cys,ENST00000391806,NM_144505.2;KLK8,missense_variant,p.Gly119Cys,ENST00000291726,NM_001281431.1;KLK8,missense_variant,p.Gly99Cys,ENST00000347619,NM_144506.2;KLK8,3_prime_UTR_variant,,ENST00000320838,NM_144507.2;KLK8,3_prime_UTR_variant,,ENST00000593490,;KLK8,downstream_gene_variant,,ENST00000595238,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK8,non_coding_transcript_exon_variant,,ENST00000598195,;CTC-518B2.8,3_prime_UTR_variant,,ENST00000599166,;KLK8,non_coding_transcript_exon_variant,,ENST00000594914,;CTC-518B2.8,downstream_gene_variant,,ENST00000250366,;KLK8,downstream_gene_variant,,ENST00000599710,;KLK8,downstream_gene_variant,,ENST00000594669,;	A	ENST00000391806	Transcript	missense_variant	934/1051	853/918	285/305	G/C	Ggc/Tgc	COSM3938231	1		-1	KLK8	HGNC	HGNC:6369	protein_coding	YES	CCDS42600.1	ENSP00000375682	O60259		UPI000002ACDB	NM_144505.2	deleterious(0)		6/6		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF123,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494											1						MODERATE	1	SNV	1		1	1										PASS		rs1402731016	.												A	3	1	3	50996124	50996124	C	A	1	0	0	0	0	1	0	0	0	8279	594	21	2		2	KLK8	19	50996124	Missense_Mutation	SNP	C	11LU022_TP	121307	50996124	7621492	949	1621											
C19orf84	0	.	GRCh38	chr19	51389194	51389194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtcgatgcaggcctcggccCcagcctggcctgtgcctgac	4	7	13	17	3	0	1	0	1	0	0	2	2	0	1	6	3	3	1	6	3	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.351G>T	p.Trp117Cys	p.W117C	ENST00000574814	2/2	118	107	11	156	156	0	strelka-mutect	C19orf84,missense_variant,p.Trp117Cys,ENST00000574814,NM_001193623.1;C19orf84,5_prime_UTR_variant,,ENST00000570516,;LIM2,upstream_gene_variant,,ENST00000221973,NM_030657.3;LIM2,upstream_gene_variant,,ENST00000596399,NM_001161748.1;	A	ENST00000574814	Transcript	missense_variant	413/1318	351/561	117/186	W/C	tgG/tgT		1		-1	C19orf84	HGNC	HGNC:27112	protein_coding	YES	CCDS58676.1	ENSP00000458772	I3L1E1		UPI0000161964	NM_001193623.1	deleterious(0.02)		2/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	51389194	51389194	C	A	1	0	0	0	0	1	0	0	0	1927	624	22	2		2	C19orf84	19	51389194	Missense_Mutation	SNP	C	11LU022_TP	393070	51389194	7228422	950	1622											
SIGLEC8	0	.	GRCh38	chr19	51454269	51454269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcttccatgcctgtatcccCcacgcccgctgctggccttg	4	11	8	18	2	1	0	0	0	1	0	3	0	3	0	6	1	2	3	6	1	1	3	rs771308591		11LU022_TP	11LU022_NB	C	C																c.1195G>T	p.Gly399Trp	p.G399W	ENST00000321424	6/7	299	266	33	322	322	0	strelka-varscan-mutect	SIGLEC8,missense_variant,p.Gly399Trp,ENST00000321424,NM_014442.2;SIGLEC8,missense_variant,p.Gly290Trp,ENST00000430817,;SIGLEC8,missense_variant,p.Gly306Trp,ENST00000340550,;SIGLEC8,downstream_gene_variant,,ENST00000597352,;	A	ENST00000321424	Transcript	missense_variant	1262/2949	1195/1500	399/499	G/W	Ggg/Tgg	rs771308591	1		-1	SIGLEC8	HGNC	HGNC:10877	protein_coding	YES	CCDS33086.1	ENSP00000321077	Q9NYZ4		UPI000013598B	NM_014442.2	deleterious(0.03)		6/7		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36																	MODERATE	1	SNV	1			1										PASS		rs771308591	.												A	3	1	3	51454269	51454269	C	A	1	0	0	0	0	1	0	0	0	14578	623	22	2		2	SIGLEC8	19	51454269	Missense_Mutation	SNP	C	11LU022_TP	65075	51454269	7163347	951	1623											
SIGLEC12	0	.	GRCh38	chr19	51501539	51501539	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcttacatggtcccctgcCcggaaccagtagccatgaac	9	7	10	15	2	0	1	0	1	0	0	1	2	1	2	5	3	5	2	5	3	4	2	novel		11LU022_TP	11LU022_NB	C	C																c.195G>T	p.=	p.R65R	ENST00000291707	1/8	315	286	29	381	381	0	strelka-varscan-mutect	SIGLEC12,synonymous_variant,p.=,ENST00000291707,NM_053003.3;SIGLEC12,upstream_gene_variant,,ENST00000598614,NM_033329.2;SIGLEC12,synonymous_variant,p.=,ENST00000596742,;CTD-3073N11.7,downstream_gene_variant,,ENST00000594712,;	A	ENST00000291707	Transcript	synonymous_variant	251/2121	195/1788	65/595	R	cgG/cgT		1		-1	SIGLEC12	HGNC	HGNC:15482	protein_coding	YES	CCDS12833.1	ENSP00000291707	Q96PQ1		UPI0000135992	NM_053003.3			1/8		PROSITE_profiles:PS50835,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	51501539	51501539	C	A	1	0	0	0	0	0	0	0	1	14572	610	22	2		2	SIGLEC12	19	51501539	Silent	SNP	C	11LU022_TP	47270	51501539	7116077	952	1624											
SIGLEC6	0	.	GRCh38	chr19	51520182	51520182	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtagtggagctcctgcTcatcttctgagatggggcca	7	10	13	11	1	3	1	1	1	2	1	4	3	4	2	2	3	3	3	2	3	1	2	rs779618834		11LU022_TP	11LU022_NB	T	T																c.1262A>T	p.Glu421Val	p.E421V	ENST00000425629	8/8	181	157	24	196	196	0	strelka-varscan-mutect	SIGLEC6,missense_variant,p.Glu405Val,ENST00000346477,NM_198845.4;SIGLEC6,missense_variant,p.Glu421Val,ENST00000425629,NM_001245.5;SIGLEC6,missense_variant,p.Glu369Val,ENST00000436458,NM_001177547.1;SIGLEC6,3_prime_UTR_variant,,ENST00000359982,NM_001177548.1;SIGLEC6,3_prime_UTR_variant,,ENST00000343300,NM_198846.4;SIGLEC6,3_prime_UTR_variant,,ENST00000391797,NM_001177549.1;CTD-3073N11.9,non_coding_transcript_exon_variant,,ENST00000598220,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000474054,;	A	ENST00000425629	Transcript	missense_variant	1417/1852	1262/1362	421/453	E/V	gAg/gTg	rs779618834	1		-1	SIGLEC6	HGNC	HGNC:10875	protein_coding	YES	CCDS12834.3	ENSP00000401502	O43699	A0A024R4K4	UPI0000223FFD	NM_001245.5	deleterious(0)		8/8		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF52																	MODERATE	1	SNV	2			1										PASS		rs779618834	.												A	3	1	3	51520182	51520182	T	A	1	0	0	0	0	1	0	0	0	14576	1551	54	4		4	SIGLEC6	19	51520182	Missense_Mutation	SNP	T	11LU022_TP	18643	51520182	7097434	953	1625											
PPP2R1A	0	.	GRCh38	chr19	52212976	52212976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcggtgcggctgctggcgGtggaggcgtgcgtgaacatc	5	8	18	10	5	0	1	0	1	0	0	2	2	0	2	0	6	4	2	0	6	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.673G>T	p.Val225Leu	p.V225L	ENST00000322088	6/15	63	55	8	63	63	0	strelka-varscan-mutect	PPP2R1A,missense_variant,p.Val225Leu,ENST00000322088,NM_014225.5;PPP2R1A,missense_variant,p.Val46Leu,ENST00000462990,;PPP2R1A,missense_variant,p.Val265Leu,ENST00000454220,;PPP2R1A,downstream_gene_variant,,ENST00000473455,;PPP2R1A,downstream_gene_variant,,ENST00000495876,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000473820,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000462047,;PPP2R1A,downstream_gene_variant,,ENST00000468280,;PPP2R1A,downstream_gene_variant,,ENST00000490868,;	T	ENST00000322088	Transcript	missense_variant	731/5380	673/1770	225/589	V/L	Gtg/Ttg		1		1	PPP2R1A	HGNC	HGNC:9302	protein_coding	YES	CCDS12849.1	ENSP00000324804	P30153	A8K7B7	UPI000006EB9C	NM_014225.5	deleterious(0)		6/15		PROSITE_profiles:PS50077,hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF9,Gene3D:1.25.10.10,Pfam_domain:PF13646,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	52212976	52212976	G	T	1	0	0	0	0	1	0	0	0	12505	1261	44	2		2	PPP2R1A	19	52212976	Missense_Mutation	SNP	G	11LU022_TP	692794	52212976	6404640	954	1626											
PPP2R1A	0	.	GRCh38	chr19	52213110	52213110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgacaagttcacagaGgtagatgagcgaccgttgac	11	8	14	8	2	1	5	1	3	0	2	1	6	1	5	1	2	1	4	1	2	2	3	novel		11LU022_TP	11LU022_NB	G	G																c.807G>T	p.Glu269Asp	p.E269D	ENST00000322088	6/15	38	21	17	42	42	0	strelka-varscan-mutect	PPP2R1A,missense_variant,p.Glu269Asp,ENST00000322088,NM_014225.5;PPP2R1A,missense_variant,p.Glu90Asp,ENST00000462990,;PPP2R1A,missense_variant,p.Glu309Asp,ENST00000454220,;PPP2R1A,downstream_gene_variant,,ENST00000473455,;PPP2R1A,downstream_gene_variant,,ENST00000495876,;PPP2R1A,splice_region_variant,,ENST00000473820,;PPP2R1A,splice_region_variant,,ENST00000462047,;PPP2R1A,downstream_gene_variant,,ENST00000468280,;PPP2R1A,downstream_gene_variant,,ENST00000490868,;	T	ENST00000322088	Transcript	missense_variant,splice_region_variant	865/5380	807/1770	269/589	E/D	gaG/gaT		1		1	PPP2R1A	HGNC	HGNC:9302	protein_coding	YES	CCDS12849.1	ENSP00000324804	P30153	A8K7B7	UPI000006EB9C	NM_014225.5	tolerated(0.24)		6/15		PROSITE_profiles:PS50077,hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF9,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	52213110	52213110	G	T	1	0	0	0	0	1	0	0	0	12505	1014	35	2		2	PPP2R1A	19	52213110	Missense_Mutation	SNP	G	11LU022_TP	134	52213110	6404506	955	1627											
ZNF415	0	.	GRCh38	chr19	53109266	53109266	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgaactctccaatgacgcGcaaggtttgatttttgacta	11	14	8	8	2	1	4	0	4	1	0	2	4	1	4	1	1	1	2	1	1	5	5	rs373210709		11LU022_TP	11LU022_NB	G	G																c.779C>G	p.Ala260Gly	p.A260G	ENST00000500065	4/4	247	220	27	247	247	0	strelka-varscan-mutect	ZNF415,missense_variant,p.Ala260Gly,ENST00000500065,NM_001136038.2;ZNF415,missense_variant,p.Ala260Gly,ENST00000421033,NM_001164309.1;ZNF415,missense_variant,p.Ala260Gly,ENST00000243643,NM_018355.3;ZNF415,missense_variant,p.Ala30Gly,ENST00000601493,;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,downstream_gene_variant,,ENST00000601110,;ZNF415,downstream_gene_variant,,ENST00000595813,;ZNF415,downstream_gene_variant,,ENST00000601215,;ZNF415,downstream_gene_variant,,ENST00000595174,;ZNF415,downstream_gene_variant,,ENST00000595359,;ZNF415,downstream_gene_variant,,ENST00000602024,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;	C	ENST00000500065	Transcript	missense_variant	1113/2496	779/1668	260/555	A/G	gCg/gGg	rs373210709	1		-1	ZNF415	HGNC	HGNC:20636	protein_coding	YES	CCDS54313.1	ENSP00000439435	Q09FC8		UPI0000E04BC1	NM_001136038.2	deleterious(0.04)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF145,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,SMART_domains:SM00614,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	4			1										PASS		rs373210709	.												C	3	2	3	53109266	53109266	G	C	1	0	0	0	0	1	0	0	0	18464	1087	38	4		4	ZNF415	19	53109266	Missense_Mutation	SNP	G	11LU022_TP	896156	53109266	5508350	956	1628											
ZNF813	0	.	GRCh38	chr19	53491382	53491382	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacgggagagaaaccttatAagtgtaatgaatgtggcaag	16	9	12	4	1	0	2	0	1	0	1	0	4	0	3	1	2	2	2	1	2	7	4	novel		11LU022_TP	11LU022_NB	A	A																c.1150A>T	p.Lys384Ter	p.K384*	ENST00000396403	4/4	264	186	78	249	249	0	strelka-varscan-mutect	ZNF813,stop_gained,p.Lys384Ter,ENST00000396403,NM_001004301.3;ZNF813,downstream_gene_variant,,ENST00000490956,;ZNF813,downstream_gene_variant,,ENST00000468450,;CTD-2224J9.4,upstream_gene_variant,,ENST00000483735,;	T	ENST00000396403	Transcript	stop_gained	1278/6151	1150/1854	384/617	K/*	Aag/Tag		1		1	ZNF813	HGNC	HGNC:33257	protein_coding	YES	CCDS46172.1	ENSP00000379684	Q6ZN06		UPI000040C511	NM_001004301.3			4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	3			1										PASS		rs1434894125	.												T	4	4	3	53491382	53491382	A	T	1	0	0	0	0	0	1	0	0	18761	363	13	4		4	ZNF813	19	53491382	Nonsense_Mutation	SNP	A	11LU022_TP	382116	53491382	5126234	957	1629											
CACNG8	0	.	GRCh38	chr19	53978208	53978208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacacggactacgaccacGacagcgcggagtatctactc	12	5	11	13	5	1	0	0	0	1	0	2	5	1	3	1	3	3	1	1	3	3	3	novel		11LU022_TP	11LU022_NB	G	G																c.346G>T	p.Asp116Tyr	p.D116Y	ENST00000270458	2/4	135	125	10	151	151	0	strelka-varscan-mutect	CACNG8,missense_variant,p.Asp116Tyr,ENST00000270458,NM_031895.5;CACNG8,upstream_gene_variant,,ENST00000401179,;	T	ENST00000270458	Transcript	missense_variant	449/8747	346/1278	116/425	D/Y	Gac/Tac		1		1	CACNG8	HGNC	HGNC:13628	protein_coding	YES	CCDS33104.1	ENSP00000270458	Q8WXS5		UPI000013D88B	NM_031895.5	deleterious(0)		2/4		hmmpanther:PTHR12107:SF2,hmmpanther:PTHR12107,Pfam_domain:PF00822																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	53978208	53978208	G	T	1	0	0	0	0	1	0	0	0	2251	1058	37	1		1	CACNG8	19	53978208	Missense_Mutation	SNP	G	11LU022_TP	486826	53978208	4639408	958	1630											
LILRB5	0	.	GRCh38	chr19	54256696	54256696	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagtctccaggggcccctGacaccagagggtcacgggct	7	6	13	15	1	3	2	2	1	1	1	4	2	3	2	4	4	0	1	4	4	0	0	novel		11LU022_TP	11LU022_NB	G	G																c.148C>T	p.Gln50Ter	p.Q50*	ENST00000449561	3/13	353	317	36	404	404	0	strelka-varscan-mutect	LILRB5,stop_gained,p.Gln50Ter,ENST00000316219,NM_006840.4;LILRB5,stop_gained,p.Gln50Ter,ENST00000449561,NM_001081442.2,NM_001304457.1;LILRB5,stop_gained,p.Gln50Ter,ENST00000345866,NM_001081443.2;LILRB5,non_coding_transcript_exon_variant,,ENST00000621581,;LILRB5,intron_variant,,ENST00000615654,;	A	ENST00000449561	Transcript	stop_gained	219/2137	148/1776	50/591	Q/*	Cag/Tag		1		-1	LILRB5	HGNC	HGNC:6609	protein_coding	YES	CCDS46176.1	ENSP00000406478	O75023		UPI00034F239B	NM_001081442.2,NM_001304457.1			3/13		PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF108,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	3	54256696	54256696	G	A	1	0	0	0	0	0	1	0	0	8702	1299	45	3		3	LILRB5	19	54256696	Nonsense_Mutation	SNP	G	11LU022_TP	278488	54256696	4360920	959	1631											
LAIR1	0	.	GRCh38	chr19	54355377	54355377	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcccagtggtccagctgaGcatacgtcacctcctgggaa	8	7	13	13	1	1	1	1	1	0	0	3	2	3	2	4	3	3	2	4	3	2	1	rs376569529		11LU022_TP	11LU022_NB	G	G																c.755C>G	p.Ala252Gly	p.A252G	ENST00000391742	10/10	108	74	34	102	102	0	strelka-varscan-mutect	LAIR1,missense_variant,p.Ala252Gly,ENST00000391742,NM_002287.5;LAIR1,missense_variant,p.Ala234Gly,ENST00000391743,NM_001289026.2,NM_001289027.2;LAIR1,missense_variant,p.Ala251Gly,ENST00000434277,NM_001289025.2;LAIR1,missense_variant,p.Ala235Gly,ENST00000348231,NM_021706.4;LAIR1,missense_variant,p.Ala234Gly,ENST00000474878,NM_001289023.2;LAIR1,downstream_gene_variant,,ENST00000622064,;LAIR1,non_coding_transcript_exon_variant,,ENST00000440716,;LAIR1,downstream_gene_variant,,ENST00000463489,;LAIR1,downstream_gene_variant,,ENST00000468656,;LAIR1,3_prime_UTR_variant,,ENST00000391741,;LAIR1,non_coding_transcript_exon_variant,,ENST00000475389,;LAIR1,non_coding_transcript_exon_variant,,ENST00000467269,;LAIR1,non_coding_transcript_exon_variant,,ENST00000498511,;LAIR1,downstream_gene_variant,,ENST00000460312,;LAIR1,downstream_gene_variant,,ENST00000418556,;LAIR1,downstream_gene_variant,,ENST00000436513,;LAIR1,downstream_gene_variant,,ENST00000420483,;	C	ENST00000391742	Transcript	missense_variant	908/4901	755/864	252/287	A/G	gCt/gGt	rs376569529	1		-1	LAIR1	HGNC	HGNC:6477	protein_coding	YES	CCDS12891.1	ENSP00000375622	Q6GTX8		UPI00034F23B9	NM_002287.5	deleterious(0.01)		10/10		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF122																	MODERATE	1	SNV	1			1										PASS		rs376569529	.												C	3	2	3	54355377	54355377	G	C	1	0	0	0	0	1	0	0	0	8506	971	34	4		4	LAIR1	19	54355377	Missense_Mutation	SNP	G	11LU022_TP	98681	54355377	4262239	960	1632											
LILRB1	0	.	GRCh38	chr19	54636530	54636530	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagacccccaggcagtgacgTatgccgaggtgaaacactcc	12	5	11	13	2	0	3	0	2	0	1	1	4	1	3	4	2	2	2	4	2	3	1	novel		11LU022_TP	11LU022_NB	T	T																c.1690T>A	p.Tyr564Asn	p.Y564N	ENST00000324602	14/15	177	166	11	192	192	0	varscan-mutect	LILRB1,missense_variant,p.Tyr562Asn,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Tyr563Asn,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Tyr563Asn,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Tyr564Asn,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Tyr613Asn,ENST00000427581,;LILRB1,missense_variant,p.Tyr564Asn,ENST00000396315,;LILRB1,missense_variant,p.Tyr546Asn,ENST00000396317,NM_001278398.2;AC009892.10,intron_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,3_prime_UTR_variant,,ENST00000421584,;LILRB1,downstream_gene_variant,,ENST00000480375,;LILRB1,downstream_gene_variant,,ENST00000487425,;	A	ENST00000324602	Transcript	missense_variant	1855/2774	1690/1959	564/652	Y/N	Tat/Aat		1		1	LILRB1	HGNC	HGNC:6605	protein_coding	YES	CCDS42614.1	ENSP00000315997		A0A087WSV6	UPI00034F23AA	NM_001081637.2	deleterious(0.03)		14/15																			MODERATE		SNV	5			1										PASS		.	.												A	3	1	3	54636530	54636530	T	A	1	0	0	0	0	1	0	0	0	8698	1638	57	4		4	LILRB1	19	54636530	Missense_Mutation	SNP	T	11LU022_TP	281153	54636530	3981086	961	1633											
NCR1	0	.	GRCh38	chr19	54909345	54909345	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagacactgcaacaagcatGttcttactgctcaaggaggg	12	9	10	10	0	2	1	1	0	1	1	2	2	2	2	0	2	5	4	0	2	5	3	novel		11LU022_TP	11LU022_NB	G	G																c.456G>C	p.Met152Ile	p.M152I	ENST00000291890	4/7	294	269	25	270	269	1	strelka-varscan-mutect	NCR1,missense_variant,p.Met152Ile,ENST00000594765,NM_001145457.2;NCR1,missense_variant,p.Met152Ile,ENST00000291890,NM_004829.6;NCR1,missense_variant,p.Met140Ile,ENST00000598576,;NCR1,missense_variant,p.Met152Ile,ENST00000338835,NM_001145458.2,NM_001242357.2;NCR1,missense_variant,p.Met57Ile,ENST00000350790,NM_001242356.2;NCR1,missense_variant,p.Met45Ile,ENST00000357397,;NCR1,non_coding_transcript_exon_variant,,ENST00000601137,;NCR1,downstream_gene_variant,,ENST00000601903,;	C	ENST00000291890	Transcript	missense_variant	494/1155	456/915	152/304	M/I	atG/atC		1		1	NCR1	HGNC	HGNC:6731	protein_coding	YES	CCDS12911.1	ENSP00000291890		A0A0A0MQZ0	UPI00034F23C0	NM_004829.6	tolerated(0.07)		4/7		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF14,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	3	54909345	54909345	G	C	1	0	0	0	0	1	0	0	0	10256	1377	48	4		4	NCR1	19	54909345	Missense_Mutation	SNP	G	11LU022_TP	272815	54909345	3708271	962	1634											
NLRP2	0	.	GRCh38	chr19	54982463	54982463	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcagccgcctgggcccGtgcagttttgcagagctggt	5	9	15	12	2	1	1	1	0	0	1	1	2	1	1	3	2	5	5	3	2	0	2	rs151132029		11LU022_TP	11LU022_NB	G	G																c.765G>T	p.=	p.P255P	ENST00000543010	6/13	448	408	40	464	464	0	strelka-varscan-mutect	NLRP2,synonymous_variant,p.=,ENST00000543010,NM_001174081.1;NLRP2,synonymous_variant,p.=,ENST00000448584,NM_017852.3;NLRP2,synonymous_variant,p.=,ENST00000537859,NM_001174082.1;NLRP2,synonymous_variant,p.=,ENST00000263437,;NLRP2,synonymous_variant,p.=,ENST00000339757,;NLRP2,synonymous_variant,p.=,ENST00000391721,;NLRP2,synonymous_variant,p.=,ENST00000427260,NM_001174083.1;NLRP2,upstream_gene_variant,,ENST00000540005,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,downstream_gene_variant,,ENST00000588107,;NLRP2,downstream_gene_variant,,ENST00000585500,;NLRP2,downstream_gene_variant,,ENST00000397169,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;NLRP2,upstream_gene_variant,,ENST00000381637,;	T	ENST00000543010	Transcript	synonymous_variant	908/3576	765/3189	255/1062	P	ccG/ccT	rs151132029	1		1	NLRP2	HGNC	HGNC:22948	protein_coding	YES	CCDS12913.1	ENSP00000445135	Q9NX02		UPI000004C0CC	NM_001174081.1			6/13		PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF129,hmmpanther:PTHR24106,Gene3D:3.40.50.300,Pfam_domain:PF05729,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs151132029	.												T	2	4	3	54982463	54982463	G	T	1	0	0	0	0	0	0	0	1	10514	1132	40	1		1	NLRP2	19	54982463	Silent	SNP	G	11LU022_TP	73118	54982463	3635153	963	1635											
NLRP2	0	.	GRCh38	chr19	54982613	54982613	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgatcgaggacatctgCggggactgggagaagaagaa	12	5	17	7	3	1	4	0	1	1	3	2	8	1	6	0	4	1	1	0	4	3	0	rs370946962		11LU022_TP	11LU022_NB	C	C																c.915C>A	p.Cys305Ter	p.C305*	ENST00000543010	6/13	233	155	78	270	270	0	strelka-varscan-mutect	NLRP2,stop_gained,p.Cys305Ter,ENST00000543010,NM_001174081.1;NLRP2,stop_gained,p.Cys305Ter,ENST00000448584,NM_017852.3;NLRP2,stop_gained,p.Cys283Ter,ENST00000537859,NM_001174082.1;NLRP2,stop_gained,p.Cys302Ter,ENST00000263437,;NLRP2,stop_gained,p.Cys283Ter,ENST00000339757,;NLRP2,stop_gained,p.Cys281Ter,ENST00000391721,;NLRP2,stop_gained,p.Cys282Ter,ENST00000427260,NM_001174083.1;NLRP2,upstream_gene_variant,,ENST00000540005,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,downstream_gene_variant,,ENST00000588107,;NLRP2,downstream_gene_variant,,ENST00000585500,;NLRP2,downstream_gene_variant,,ENST00000397169,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;NLRP2,upstream_gene_variant,,ENST00000381637,;	A	ENST00000543010	Transcript	stop_gained	1058/3576	915/3189	305/1062	C/*	tgC/tgA	rs370946962,COSM1564215	1		1	NLRP2	HGNC	HGNC:22948	protein_coding	YES	CCDS12913.1	ENSP00000445135	Q9NX02		UPI000004C0CC	NM_001174081.1			6/13		PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF129,hmmpanther:PTHR24106,Gene3D:3.40.50.300,Pfam_domain:PF05729											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs370946962	.												A	4	1	3	54982613	54982613	C	A	1	0	0	0	0	0	1	0	0	10514	776	27	1		1	NLRP2	19	54982613	Nonsense_Mutation	SNP	C	11LU022_TP	150	54982613	3635003	964	1636											
SHISA7	0	.	GRCh38	chr19	55442669	55442669	+	Silent	SNP	G	G	T																															gccgcgcccgccccgcccgcGgggccggtcctggtgccgtt																								novel		11LU022_TP	11LU022_NB	G	G																c.195C>A	p.=	p.P65P	ENST00000376325	1/4	109	97	12	134	133	1	strelka-varscan-mutect	SHISA7,synonymous_variant,p.=,ENST00000376325,NM_001145176.1;SHISA7,upstream_gene_variant,,ENST00000416792,;	T	ENST00000376325	Transcript	synonymous_variant	195/6033	195/1617	65/538	P	ccC/ccA		1		-1	SHISA7	HGNC	HGNC:35409	protein_coding	YES	CCDS46193.1	ENSP00000365503	A6NL88		UPI000193055E	NM_001145176.1			1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF2																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	3	55442669	55442669	G	T	1	0	0	0	0	0	0	0	1	14545	1103	39	1		1	SHISA7	19	55442669	Silent	SNP	G	11LU022_TP	460056	55442669	3174947	965	1637	39	2									
SHISA7	0	.	GRCh38	chr19	55442670	55442670	+	Missense_Mutation	SNP	G	G	T																															ccgcgcccgccccgcccgcgGggccggtcctggtgccgttg																								novel		11LU022_TP	11LU022_NB	G	G																c.194C>A	p.Pro65His	p.P65H	ENST00000376325	1/4	107	95	12	132	132	0	strelka-varscan-mutect	SHISA7,missense_variant,p.Pro65His,ENST00000376325,NM_001145176.1;SHISA7,upstream_gene_variant,,ENST00000416792,;	T	ENST00000376325	Transcript	missense_variant	194/6033	194/1617	65/538	P/H	cCc/cAc		1		-1	SHISA7	HGNC	HGNC:35409	protein_coding	YES	CCDS46193.1	ENSP00000365503	A6NL88		UPI000193055E	NM_001145176.1	deleterious_low_confidence(0.01)		1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF2																	MODERATE	1	SNV	2			1										PASS		rs1354618731	.												T	3	4	3	55442670	55442670	G	T	1	0	0	0	0	1	0	0	0	14545	1232	43	2		2	SHISA7	19	55442670	Missense_Mutation	SNP	G	11LU022_TP	1	55442670	3174946	966	1638	39	2									
EPN1	0	.	GRCh38	chr19	55689950	55689950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagactgggggcaaggaggaGgtgagcggggcttgttctgc	7	7	21	6	1	1	2	0	1	1	1	1	5	1	4	0	7	2	3	0	7	1	2	novel		11LU022_TP	11LU022_NB	G	G																c.1020G>T	p.Glu340Asp	p.E340D	ENST00000411543	6/11	121	110	11	171	171	0	strelka-varscan-mutect	EPN1,missense_variant,p.Glu254Asp,ENST00000270460,NM_001130072.1;EPN1,missense_variant,p.Glu340Asp,ENST00000411543,NM_001130071.1;EPN1,missense_variant,p.Glu229Asp,ENST00000085079,NM_013333.3;EPN1,upstream_gene_variant,,ENST00000589704,;AC010525.4,downstream_gene_variant,,ENST00000585559,;EPN1,downstream_gene_variant,,ENST00000591743,;EPN1,upstream_gene_variant,,ENST00000586194,;	T	ENST00000411543	Transcript	missense_variant,splice_region_variant	1567/2621	1020/1989	340/662	E/D	gaG/gaT		1		1	EPN1	HGNC	HGNC:21604	protein_coding	YES	CCDS46198.1	ENSP00000406209	Q9Y6I3		UPI000059D7B7	NM_001130071.1	deleterious(0.02)		6/11		hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF48																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	55689950	55689950	G	T	1	0	0	0	0	1	0	0	0	5032	1014	35	2		2	EPN1	19	55689950	Missense_Mutation	SNP	G	11LU022_TP	247280	55689950	2927666	967	1639											
NLRP5	0	.	GRCh38	chr19	56027098	56027098	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttctgcacggaaagtcaGgaattgggaaatcggctcta	11	10	13	7	2	3	0	1	0	2	0	4	3	3	3	0	5	1	3	0	5	4	3	novel		11LU022_TP	11LU022_NB	G	G																c.865G>T	p.Gly289Ter	p.G289*	ENST00000390649	7/15	185	129	56	213	213	0	strelka-varscan-mutect	NLRP5,stop_gained,p.Gly289Ter,ENST00000390649,NM_153447.4;NLRP5,stop_gained,p.Gly289Ter,ENST00000621651,;	T	ENST00000390649	Transcript	stop_gained	865/3888	865/3603	289/1200	G/*	Gga/Tga		1		1	NLRP5	HGNC	HGNC:21269	protein_coding	YES	CCDS12938.1	ENSP00000375063	P59047		UPI00001AEEBD	NM_153447.4			7/15		PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Pfam_domain:PF05729,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	3	56027098	56027098	G	T	1	0	0	0	0	0	1	0	0	10518	1001	35	2		2	NLRP5	19	56027098	Nonsense_Mutation	SNP	G	11LU022_TP	337148	56027098	2590518	968	1640											
ZNF787	0	.	GRCh38	chr19	56088615	56088615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctcttgggctggctgaagCcgcggccgcagcgcgggcac	4	5	18	14	5	1	1	0	1	1	0	1	1	1	1	2	5	2	5	2	5	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.557G>T	p.Gly186Val	p.G186V	ENST00000610935	3/3	119	75	44	146	146	0	strelka-varscan-mutect	ZNF787,missense_variant,p.Gly186Val,ENST00000610935,NM_001002836.3;ZNF787,downstream_gene_variant,,ENST00000586787,;	A	ENST00000610935	Transcript	missense_variant	676/1925	557/1149	186/382	G/V	gGc/gTc		1		-1	ZNF787	HGNC	HGNC:26998	protein_coding	YES	CCDS42634.1	ENSP00000478557		A0A087WUD1	UPI0001596896	NM_001002836.3	deleterious(0.01)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24408:SF1,hmmpanther:PTHR24408,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	56088615	56088615	C	A	1	0	0	0	0	1	0	0	0	18743	739	26	2		2	ZNF787	19	56088615	Missense_Mutation	SNP	C	11LU022_TP	61517	56088615	2529001	969	1641											
ZNF787	0	.	GRCh38	chr19	56088874	56088874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcgagaaggtcttgcCgcagtcggcgcaggcgttgg	5	8	17	11	5	2	1	0	0	2	1	3	2	2	1	1	4	2	4	1	4	1	2	novel		11LU022_TP	11LU022_NB	C	C																c.298G>T	p.Gly100Cys	p.G100C	ENST00000610935	3/3	96	67	29	156	156	0	strelka-varscan-mutect	ZNF787,missense_variant,p.Gly100Cys,ENST00000610935,NM_001002836.3;ZNF787,downstream_gene_variant,,ENST00000586787,;	A	ENST00000610935	Transcript	missense_variant	417/1925	298/1149	100/382	G/C	Ggc/Tgc		1		-1	ZNF787	HGNC	HGNC:26998	protein_coding	YES	CCDS42634.1	ENSP00000478557		A0A087WUD1	UPI0001596896	NM_001002836.3	deleterious(0)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24408:SF1,hmmpanther:PTHR24408,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	56088874	56088874	C	A	1	0	0	0	0	1	0	0	0	18743	652	23	1		1	ZNF787	19	56088874	Missense_Mutation	SNP	C	11LU022_TP	259	56088874	2528742	970	1642											
ZNF582	0	.	GRCh38	chr19	56385174	56385174	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattccttggtatcatatctGgactccaatactaagaatga	14	13	6	8	0	2	2	1	1	1	1	4	3	4	3	2	2	1	1	2	2	7	6	novel		11LU022_TP	11LU022_NB	G	G																c.243C>A	p.=	p.S81S	ENST00000301310	5/5	72	67	5	68	68	0	strelka-varscan-mutect	ZNF582,synonymous_variant,p.=,ENST00000301310,;ZNF582,synonymous_variant,p.=,ENST00000619584,NM_144690.1;ZNF582,synonymous_variant,p.=,ENST00000586929,;ZNF582,intron_variant,,ENST00000589143,;ZNF582,downstream_gene_variant,,ENST00000589895,;AC006116.12,upstream_gene_variant,,ENST00000589671,;ZNF582,synonymous_variant,p.=,ENST00000587778,;ZNF582,synonymous_variant,p.=,ENST00000593145,;SLC25A36P1,upstream_gene_variant,,ENST00000590111,;	T	ENST00000301310	Transcript	synonymous_variant	402/2824	243/1554	81/517	S	tcC/tcA		1		-1	ZNF582	HGNC	HGNC:26421	protein_coding	YES	CCDS33121.1	ENSP00000301310	Q96NG8	A0A024R4P7	UPI000006D278				5/5		hmmpanther:PTHR24381:SF115,hmmpanther:PTHR24381																	LOW	1	SNV	1			1										PASS		rs1034688442	.												T	2	4	3	56385174	56385174	G	T	1	0	0	0	0	0	0	0	1	18588	1335	47	2		2	ZNF582	19	56385174	Silent	SNP	G	11LU022_TP	296300	56385174	2232442	971	1643											
ZNF667	0	.	GRCh38	chr19	56441869	56441869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccattatgaattcttagatGcagaataagggttgaaagcc	14	12	9	6	0	1	4	0	2	1	2	2	4	2	4	2	1	2	2	2	1	6	5	novel		11LU022_TP	11LU022_NB	G	G																c.1126C>A	p.His376Asn	p.H376N	ENST00000504904	7/7	103	76	27	128	128	0	strelka-varscan-mutect	ZNF667,missense_variant,p.His376Asn,ENST00000504904,NM_001321356.1;ZNF667,missense_variant,p.His376Asn,ENST00000292069,NM_022103.3;ZNF667,missense_variant,p.His158Asn,ENST00000629654,;ZNF667,3_prime_UTR_variant,,ENST00000591790,;ZNF667,downstream_gene_variant,,ENST00000587555,;ZNF667,3_prime_UTR_variant,,ENST00000592189,NM_001321355.1;	T	ENST00000504904	Transcript	missense_variant	1846/4390	1126/1833	376/610	H/N	Cat/Aat		1		-1	ZNF667	HGNC	HGNC:28854	protein_coding	YES	CCDS12944.1	ENSP00000439402	Q5HYK9		UPI0000202CEE	NM_001321356.1	deleterious(0)		7/7		PROSITE_profiles:PS50157,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF46,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	56441869	56441869	G	T	1	0	0	0	0	1	0	0	0	18648	1319	46	2		2	ZNF667	19	56441869	Missense_Mutation	SNP	G	11LU022_TP	56695	56441869	2175747	972	1644											
PEG3	0	.	GRCh38	chr19	56815279	56815279	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccatgagacttctcttGgtcatagattttctggtttg	6	17	9	9	1	3	2	1	1	2	2	5	3	3	2	1	2	0	1	1	2	1	6	novel		11LU022_TP	11LU022_NB	G	G																c.3163C>T	p.Gln1055Ter	p.Q1055*	ENST00000326441	10/10	130	84	46	132	132	0	strelka-varscan-mutect	PEG3,stop_gained,p.Gln1055Ter,ENST00000326441,NM_001146186.1,NM_001146184.1,NM_006210.2;PEG3,stop_gained,p.Gln931Ter,ENST00000598410,NM_001146187.1;PEG3,stop_gained,p.Gln1055Ter,ENST00000599534,;PEG3,stop_gained,p.Gln1055Ter,ENST00000599577,;PEG3,stop_gained,p.Gln929Ter,ENST00000593695,NM_001146185.1;ZIM2,intron_variant,,ENST00000629319,NM_001146326.1,NM_001146327.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000593711,NM_015363.4;ZIM2,intron_variant,,ENST00000601070,;PEG3,downstream_gene_variant,,ENST00000600833,;PEG3,upstream_gene_variant,,ENST00000599565,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	A	ENST00000326441	Transcript	stop_gained	3527/8723	3163/4767	1055/1588	Q/*	Caa/Taa		1		-1	PEG3	HGNC	HGNC:8826	protein_coding	YES	CCDS12948.1	ENSP00000326581	Q9GZU2		UPI000006D36D	NM_001146186.1,NM_001146184.1,NM_006210.2			10/10																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	3	56815279	56815279	G	A	1	0	0	0	0	0	1	0	0	11808	1357	47	3		3	PEG3	19	56815279	Nonsense_Mutation	SNP	G	11LU022_TP	373410	56815279	1802337	973	1645											
PEG3	0	.	GRCh38	chr19	56817019	56817019	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcatagaggttctctctagTatgcatgatctggtgctcaa	9	14	9	9	0	5	2	2	1	3	1	6	2	5	2	0	2	2	4	0	2	4	4	novel		11LU022_TP	11LU022_NB	T	T																c.1423A>G	p.Thr475Ala	p.T475A	ENST00000326441	10/10	159	116	43	179	179	0	strelka-varscan-mutect	PEG3,missense_variant,p.Thr475Ala,ENST00000326441,NM_001146186.1,NM_001146184.1,NM_006210.2;PEG3,missense_variant,p.Thr351Ala,ENST00000598410,NM_001146187.1;PEG3,missense_variant,p.Thr475Ala,ENST00000599534,;PEG3,missense_variant,p.Thr475Ala,ENST00000599577,;PEG3,missense_variant,p.Thr349Ala,ENST00000593695,NM_001146185.1;PEG3,missense_variant,p.Thr320Ala,ENST00000600833,;ZIM2,intron_variant,,ENST00000629319,NM_001146326.1,NM_001146327.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000593711,NM_015363.4;ZIM2,intron_variant,,ENST00000601070,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	C	ENST00000326441	Transcript	missense_variant	1787/8723	1423/4767	475/1588	T/A	Act/Gct		1		-1	PEG3	HGNC	HGNC:8826	protein_coding	YES	CCDS12948.1	ENSP00000326581	Q9GZU2		UPI000006D36D	NM_001146186.1,NM_001146184.1,NM_006210.2	deleterious(0.01)		10/10		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	56817019	56817019	T	C	1	0	0	0	0	1	0	0	0	11808	1638	57	5		5	PEG3	19	56817019	Missense_Mutation	SNP	T	11LU022_TP	1740	56817019	1800597	974	1646											
PEG3	0	.	GRCh38	chr19	56817535	56817535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agattcatcttcacaaatccCccgccggtgggttgattttt	8	14	8	11	2	3	2	2	1	1	1	4	2	4	2	3	2	0	1	3	2	1	5	novel		11LU022_TP	11LU022_NB	C	C																c.907G>T	p.Gly303Trp	p.G303W	ENST00000326441	10/10	36	21	15	44	44	0	strelka-varscan-mutect	PEG3,missense_variant,p.Gly303Trp,ENST00000326441,NM_001146186.1,NM_001146184.1,NM_006210.2;PEG3,missense_variant,p.Gly179Trp,ENST00000598410,NM_001146187.1;PEG3,missense_variant,p.Gly303Trp,ENST00000599534,;PEG3,missense_variant,p.Gly303Trp,ENST00000599577,;PEG3,missense_variant,p.Gly177Trp,ENST00000593695,NM_001146185.1;PEG3,missense_variant,p.Gly148Trp,ENST00000600833,;ZIM2,intron_variant,,ENST00000629319,NM_001146326.1,NM_001146327.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000593711,NM_015363.4;ZIM2,intron_variant,,ENST00000601070,;ZIM2,downstream_gene_variant,,ENST00000593931,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	A	ENST00000326441	Transcript	missense_variant	1271/8723	907/4767	303/1588	G/W	Ggg/Tgg		1		-1	PEG3	HGNC	HGNC:8826	protein_coding	YES	CCDS12948.1	ENSP00000326581	Q9GZU2		UPI000006D36D	NM_001146186.1,NM_001146184.1,NM_006210.2	deleterious(0)		10/10		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	56817535	56817535	C	A	1	0	0	0	0	1	0	0	0	11808	623	22	2		2	PEG3	19	56817535	Missense_Mutation	SNP	C	11LU022_TP	516	56817535	1800081	975	1647											
ZNF606	0	.	GRCh38	chr19	57979550	57979550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catacccaaagactttctccCattcattgtatttatacgct	11	15	3	12	1	2	1	1	0	1	1	3	1	2	1	2	0	2	2	2	0	5	8	novel		11LU022_TP	11LU022_NB	C	C																c.1130G>T	p.Trp377Leu	p.W377L	ENST00000341164	7/7	100	65	35	118	118	0	strelka-varscan-mutect	ZNF606,missense_variant,p.Trp377Leu,ENST00000341164,NM_025027.3;ZNF606,missense_variant,p.Trp377Leu,ENST00000551380,;ZNF606,3_prime_UTR_variant,,ENST00000550599,;	A	ENST00000341164	Transcript	missense_variant	1751/4248	1130/2379	377/792	W/L	tGg/tTg		1		-1	ZNF606	HGNC	HGNC:25879	protein_coding	YES	CCDS12968.1	ENSP00000343617	Q8WXB4	A0A024R4S7	UPI000013C35B	NM_025027.3	deleterious(0.03)		7/7		hmmpanther:PTHR24377:SF305,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	57979550	57979550	C	A	1	0	0	0	0	1	0	0	0	18607	595	21	2		2	ZNF606	19	57979550	Missense_Mutation	SNP	C	11LU022_TP	1162015	57979550	638066	976	1648											
A1BG	0	.	GRCh38	chr19	58351638	58351638	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accttgttgccagggtgcagGacctgggaggactctccatg	7	9	14	11	0	1	0	0	0	1	0	2	3	1	3	4	4	2	2	4	4	0	2	novel		11LU022_TP	11LU022_NB	G	G																c.663C>A	p.=	p.V221V	ENST00000263100	5/8	333	265	68	379	379	0	strelka-varscan-mutect	A1BG,synonymous_variant,p.=,ENST00000263100,NM_130786.3;A1BG,synonymous_variant,p.=,ENST00000600966,;ZNF497,downstream_gene_variant,,ENST00000311044,NM_198458.2;ZNF497,downstream_gene_variant,,ENST00000425453,NM_001207009.1;A1BG-AS1,intron_variant,,ENST00000594950,;A1BG-AS1,intron_variant,,ENST00000600686,;A1BG-AS1,intron_variant,,ENST00000593960,;A1BG-AS1,intron_variant,,ENST00000593374,;A1BG-AS1,intron_variant,,ENST00000600379,;A1BG-AS1,intron_variant,,ENST00000599728,;A1BG-AS1,upstream_gene_variant,,ENST00000595302,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000599109,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000600123,;CTD-2619J13.5,non_coding_transcript_exon_variant,,ENST00000623509,;A1BG,upstream_gene_variant,,ENST00000596924,;CTD-2619J13.8,downstream_gene_variant,,ENST00000596636,;A1BG,non_coding_transcript_exon_variant,,ENST00000595014,;A1BG,upstream_gene_variant,,ENST00000598345,;	T	ENST00000263100	Transcript	synonymous_variant	725/1722	663/1488	221/495	V	gtC/gtA		1		-1	A1BG	HGNC	HGNC:5	protein_coding	YES	CCDS12976.1	ENSP00000263100	P04217	V9HWD8	UPI0000167B10	NM_130786.3			5/8		Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,PROSITE_profiles:PS50835,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	58351638	58351638	G	T	1	0	0	0	0	0	0	0	1	1	1161	41	2		2	A1BG	19	58351638	Silent	SNP	G	11LU022_TP	372088	58351638	265978	977	1649											
ZNF324	0	.	GRCh38	chr19	58471530	58471530	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttccgctgctccgagtgCggcaaggccttcagccacgg	5	8	12	16	4	1	0	1	0	0	0	4	1	4	0	5	3	3	3	5	3	1	2	novel		11LU022_TP	11LU022_NB	C	C																c.1038C>A	p.Cys346Ter	p.C346*	ENST00000536459	4/4	84	79	5	84	84	0	varscan-mutect	ZNF324,stop_gained,p.Cys346Ter,ENST00000536459,;ZNF324,stop_gained,p.Cys346Ter,ENST00000196482,NM_014347.2;ZNF324,stop_gained,p.Cys205Ter,ENST00000593925,;ZNF446,upstream_gene_variant,,ENST00000596341,;ZNF446,upstream_gene_variant,,ENST00000594369,NM_017908.3;ZNF446,upstream_gene_variant,,ENST00000335841,;ZNF446,upstream_gene_variant,,ENST00000622313,;ZNF446,upstream_gene_variant,,ENST00000610298,;ZNF324,downstream_gene_variant,,ENST00000535298,;ZNF446,upstream_gene_variant,,ENST00000600013,;CTD-2619J13.23,downstream_gene_variant,,ENST00000598051,;ZNF446,upstream_gene_variant,,ENST00000391694,;ZNF446,upstream_gene_variant,,ENST00000594468,;	A	ENST00000536459	Transcript	stop_gained	1747/5653	1038/1662	346/553	C/*	tgC/tgA		1		1	ZNF324	HGNC	HGNC:14096	protein_coding	YES	CCDS12981.1	ENSP00000444812	O75467	A0A024R4R8	UPI000013C359				4/4		Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF159,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH		SNV	2			1										PASS		rs1163674696	.												A	4	1	3	58471530	58471530	C	A	1	0	0	0	0	0	1	0	0	18416	776	27	1		1	ZNF324	19	58471530	Nonsense_Mutation	SNP	C	11LU022_TP	119892	58471530	146086	978	1650											
HSPA12B	0	.	GRCh38	chr20	3746001	3746001	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatctggaaacagccagcCaagcagttcatgcgggaggc	11	5	13	12	1	2	0	1	0	1	0	2	2	2	2	3	3	5	2	3	3	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.645C>A	p.=	p.A215A	ENST00000254963	7/13	202	145	57	307	307	0	strelka-mutect	HSPA12B,synonymous_variant,p.=,ENST00000254963,NM_052970.4,NM_001197327.1;HSPA12B,synonymous_variant,p.=,ENST00000399701,NM_001318322.1;	A	ENST00000254963	Transcript	synonymous_variant	790/3151	645/2061	215/686	A	gcC/gcA		1		1	HSPA12B	HGNC	HGNC:16193	protein_coding	YES	CCDS13061.1	ENSP00000254963	Q96MM6		UPI00001285E5	NM_052970.4,NM_001197327.1			7/13		Gene3D:3.30.420.40,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF39,Superfamily_domains:SSF53067																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	3746001	3746001	C	A	1	0	0	0	0	0	0	0	1	7301	581	21	2		2	HSPA12B	20	3746001	Silent	SNP	C	11LU022_TP		3746001	60698166	979	1651											
RASSF2	0	.	GRCh38	chr20	4790471	4790471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatggttgtagaaatggcCgttgatggagaagcggtggc	9	11	16	5	2	0	3	0	1	0	2	0	4	0	3	1	5	1	3	1	5	4	4	novel		11LU022_TP	11LU022_NB	C	C																c.517G>T	p.Gly173Cys	p.G173C	ENST00000379400	7/12	26	21	5	26	26	0	strelka-varscan-mutect	RASSF2,missense_variant,p.Gly173Cys,ENST00000379400,NM_014737.2;RASSF2,missense_variant,p.Gly173Cys,ENST00000379376,NM_170774.1;RASSF2,non_coding_transcript_exon_variant,,ENST00000478553,;	A	ENST00000379400	Transcript	missense_variant	713/5427	517/981	173/326	G/C	Ggc/Tgc		1		-1	RASSF2	HGNC	HGNC:9883	protein_coding	YES	CCDS13083.1	ENSP00000368710	P50749		UPI0000001C0A	NM_014737.2	deleterious(0)		7/12		hmmpanther:PTHR22738,hmmpanther:PTHR22738:SF14																	MODERATE	1	SNV	1			1										PASS		rs1048112272	.												A	3	1	3	4790471	4790471	C	A	1	0	0	0	0	1	0	0	0	13247	652	23	1		1	RASSF2	20	4790471	Missense_Mutation	SNP	C	11LU022_TP	1044470	4790471	59653696	980	1652											
CHGB	0	.	GRCh38	chr20	5923566	5923566	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagaaattatctcaactaCggtgaggaaggagccccagg	14	6	12	9	1	1	2	1	1	1	1	2	5	1	4	2	4	3	0	2	4	5	2	rs774814252		11LU022_TP	11LU022_NB	C	C																c.1422C>A	p.Tyr474Ter	p.Y474*	ENST00000378961	4/5	107	78	29	154	154	0	strelka-varscan-mutect	CHGB,stop_gained,p.Tyr474Ter,ENST00000378961,NM_001819.2;CHGB,downstream_gene_variant,,ENST00000455042,;RP5-967N21.2,downstream_gene_variant,,ENST00000400619,;	A	ENST00000378961	Transcript	stop_gained	1626/2550	1422/2034	474/677	Y/*	taC/taA	rs774814252,COSM2152052	1		1	CHGB	HGNC	HGNC:1930	protein_coding	YES	CCDS13092.1	ENSP00000368244	P05060		UPI000013C63D	NM_001819.2			4/5		Pfam_domain:PF01271,hmmpanther:PTHR10583,hmmpanther:PTHR10583:SF4											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs774814252	.												A	4	1	3	5923566	5923566	C	A	1	0	0	0	0	0	1	0	0	3098	547	19	1		1	CHGB	20	5923566	Nonsense_Mutation	SNP	C	11LU022_TP	1133095	5923566	58520601	981	1653											
PAX1	0	.	GRCh38	chr20	21714632	21714632	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcacaggtctgcgcggcGgccccggcaatcggcacggg	5	3	18	15	7	1	0	0	0	1	0	2	0	1	0	2	7	1	3	2	7	1	0	rs780673145		11LU022_TP	11LU022_NB	G	G																c.1434G>T	p.=	p.A478A	ENST00000398485	5/5	170	137	33	258	258	0	strelka-varscan-mutect	PAX1,synonymous_variant,p.=,ENST00000398485,NM_006192.4;PAX1,3_prime_UTR_variant,,ENST00000613128,NM_001257096.1;PAX1,3_prime_UTR_variant,,ENST00000444366,;	T	ENST00000398485	Transcript	synonymous_variant	1488/2838	1434/1605	478/534	A	gcG/gcT	rs780673145,COSM3389630,COSM3389631	1		1	PAX1	HGNC	HGNC:8615	protein_coding	YES	CCDS13146.2	ENSP00000381499	P15863		UPI000179A786	NM_006192.4			5/5													0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs780673145	.												T	2	4	3	21714632	21714632	G	T	1	0	0	0	0	0	0	0	1	11563	1103	39	1		1	PAX1	20	21714632	Silent	SNP	G	11LU022_TP	15791066	21714632	42729535	982	1654											
PAX1	0	.	GRCh38	chr20	21714663	21714663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggcacgggcaggatcggaGgactcgcggaggaggaagcc	9	3	19	10	5	0	0	0	0	0	0	3	6	0	6	1	8	1	2	1	8	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.1465G>A	p.Gly489Arg	p.G489R	ENST00000398485	5/5	186	143	43	296	296	0	strelka-varscan-mutect	PAX1,missense_variant,p.Gly489Arg,ENST00000398485,NM_006192.4;PAX1,3_prime_UTR_variant,,ENST00000613128,NM_001257096.1;PAX1,3_prime_UTR_variant,,ENST00000444366,;	A	ENST00000398485	Transcript	missense_variant	1519/2838	1465/1605	489/534	G/R	Gga/Aga		1		1	PAX1	HGNC	HGNC:8615	protein_coding	YES	CCDS13146.2	ENSP00000381499	P15863		UPI000179A786	NM_006192.4	deleterious_low_confidence(0.05)		5/5																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	21714663	21714663	G	A	1	0	0	0	0	1	0	0	0	11563	1001	35	3		3	PAX1	20	21714663	Missense_Mutation	SNP	G	11LU022_TP	31	21714663	42729504	983	1655											
XKR7	0	.	GRCh38	chr20	31997127	31997127	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccgctgacgccatcacGagtccccccaggtccctgcc	6	5	8	22	3	1	1	1	1	0	0	3	2	3	1	8	1	1	1	8	1	0	0	rs746729361		11LU022_TP	11LU022_NB	G	G																c.1410G>T	p.=	p.T470T	ENST00000562532	3/3	326	274	52	301	301	0	strelka-varscan-mutect	XKR7,synonymous_variant,p.=,ENST00000562532,NM_001011718.1;	T	ENST00000562532	Transcript	synonymous_variant	1584/7844	1410/1740	470/579	T	acG/acT	rs746729361,COSM5327885	1		1	XKR7	HGNC	HGNC:23062	protein_coding	YES	CCDS33459.1	ENSP00000477059	Q5GH72		UPI00004C7A9E	NM_001011718.1			3/3		hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF9											0,1						LOW	1	SNV	1		0,1	1										PASS		rs746729361	.												T	2	4	3	31997127	31997127	G	T	1	0	0	0	0	0	0	0	1	17995	1045	37	1		1	XKR7	20	31997127	Silent	SNP	G	11LU022_TP	10282464	31997127	32447040	984	1656											
BPIFB2	0	.	GRCh38	chr20	33008628	33008628	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgctgctgcccgtggtCggtgcctccacgccaggcac	4	7	13	17	3	0	0	0	0	0	0	2	0	1	0	4	3	4	4	4	3	0	0	novel		11LU022_TP	11LU022_NB	C	C																c.54C>A	p.=	p.V18V	ENST00000170150	2/16	201	182	19	165	164	1	strelka-varscan-mutect	BPIFB2,synonymous_variant,p.=,ENST00000170150,NM_025227.2;SUN5,upstream_gene_variant,,ENST00000356173,NM_080675.3;SUN5,upstream_gene_variant,,ENST00000375523,;SUN5,upstream_gene_variant,,ENST00000420875,;SUN5,upstream_gene_variant,,ENST00000375519,;	A	ENST00000170150	Transcript	synonymous_variant	249/1898	54/1377	18/458	V	gtC/gtA		1		1	BPIFB2	HGNC	HGNC:16177	protein_coding	YES	CCDS13210.1	ENSP00000170150	Q8N4F0		UPI00000377B0	NM_025227.2			2/16		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10504:SF92,hmmpanther:PTHR10504,PIRSF_domain:PIRSF002417																	LOW	1	SNV	1			1										PASS		rs1380855534	.												A	2	1	3	33008628	33008628	C	A	1	0	0	0	0	0	0	0	1	1658	871	31	1		1	BPIFB2	20	33008628	Silent	SNP	C	11LU022_TP	1011501	33008628	31435539	985	1657											
AHCY	0	.	GRCh38	chr20	34290427	34290427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgttacacacaatggcatCatccttcatctgctcaaagt	13	12	5	11	0	4	0	3	0	1	0	5	0	5	0	1	1	2	3	1	1	4	2	novel		11LU022_TP	11LU022_NB	C	C																c.877G>A	p.Asp293Asn	p.D293N	ENST00000217426	8/10	678	630	48	606	605	1	strelka-varscan-mutect	AHCY,missense_variant,p.Asp265Asn,ENST00000538132,NM_001161766.1;AHCY,missense_variant,p.Asp293Asn,ENST00000217426,NM_000687.2;CTD-3216D2.5,upstream_gene_variant,,ENST00000609218,;AHCY,downstream_gene_variant,,ENST00000468908,;AHCY,non_coding_transcript_exon_variant,,ENST00000480653,;AHCY,downstream_gene_variant,,ENST00000606061,;	T	ENST00000217426	Transcript	missense_variant	955/2143	877/1299	293/432	D/N	Gat/Aat		1		-1	AHCY	HGNC	HGNC:343	protein_coding	YES	CCDS13233.1	ENSP00000217426	P23526		UPI00001354F1	NM_000687.2	tolerated_low_confidence(0.06)		8/10		HAMAP:MF_00563,hmmpanther:PTHR23420,Pfam_domain:PF00670,PIRSF_domain:PIRSF001109,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR00936,SMART_domains:SM00996,SMART_domains:SM00997,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	34290427	34290427	C	T	1	0	0	0	0	1	0	0	0	486	826	29	3		3	AHCY	20	34290427	Missense_Mutation	SNP	C	11LU022_TP	1281799	34290427	30153740	986	1658											
PTPRT	0	.	GRCh38	chr20	42106831	42106831	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcccggagctcacgcacGcagttgaagatgtccaccac	9	6	12	14	3	1	2	1	1	0	1	2	3	2	3	3	2	1	4	3	2	1	1	rs189118400		11LU022_TP	11LU022_NB	G	G																c.3402C>A	p.Cys1134Ter	p.C1134*	ENST00000373198	25/32	198	169	29	181	181	0	strelka-varscan-mutect	PTPRT,stop_gained,p.Cys1134Ter,ENST00000373198,NM_133170.3;PTPRT,stop_gained,p.Cys1137Ter,ENST00000373193,;PTPRT,stop_gained,p.Cys1105Ter,ENST00000373201,;PTPRT,stop_gained,p.Cys1114Ter,ENST00000373190,;PTPRT,stop_gained,p.Cys1125Ter,ENST00000373184,;PTPRT,stop_gained,p.Cys1124Ter,ENST00000356100,;PTPRT,stop_gained,p.Cys1115Ter,ENST00000373187,NM_007050.5;PTPRT,stop_gained,p.Cys733Ter,ENST00000612229,;PTPRT,stop_gained,p.Cys750Ter,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	T	ENST00000373198	Transcript	stop_gained	3638/12746	3402/4383	1134/1460	C/*	tgC/tgA	rs189118400,COSM3291841,COSM4098494	1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3			25/32		Gene3D:3.90.190.10,Pfam_domain:PF00102,Prints_domain:PR00700,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799											0,1,1						HIGH	1	SNV	2		0,1,1	1										PASS		rs189118400	.												T	4	4	3	42106831	42106831	G	T	1	0	0	0	0	0	1	0	0	12967	1079	38	1		1	PTPRT	20	42106831	Nonsense_Mutation	SNP	G	11LU022_TP	7816404	42106831	22337336	987	1659											
PTPRT	0	.	GRCh38	chr20	42161451	42161451	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgggttggaactggtcccgGgggtagctcatctccacagg	6	8	16	11	2	2	0	1	0	1	0	4	1	3	1	2	6	2	3	2	6	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.2640C>A	p.=	p.P880P	ENST00000373198	18/32	241	201	40	175	175	0	strelka-varscan-mutect	PTPRT,synonymous_variant,p.=,ENST00000373198,NM_133170.3;PTPRT,synonymous_variant,p.=,ENST00000373193,;PTPRT,synonymous_variant,p.=,ENST00000373201,;PTPRT,synonymous_variant,p.=,ENST00000373190,;PTPRT,synonymous_variant,p.=,ENST00000373184,;PTPRT,synonymous_variant,p.=,ENST00000356100,;PTPRT,synonymous_variant,p.=,ENST00000373187,NM_007050.5;PTPRT,synonymous_variant,p.=,ENST00000612229,;PTPRT,synonymous_variant,p.=,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	T	ENST00000373198	Transcript	synonymous_variant	2876/12746	2640/4383	880/1460	P	ccC/ccA		1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3			18/32		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	3	42161451	42161451	G	T	1	0	0	0	0	0	0	0	1	12967	1219	43	2		2	PTPRT	20	42161451	Silent	SNP	G	11LU022_TP	54620	42161451	22282716	988	1660											
HNF4A	0	.	GRCh38	chr20	44413776	44413776	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctccatcaatgcgctcctGcaggcggaggtcctgtcccg	5	8	11	17	3	1	0	1	0	0	0	5	1	5	1	5	3	2	2	5	3	1	0	rs764197818		11LU022_TP	11LU022_NB	G	G																c.468G>T	p.=	p.L156L	ENST00000316099	4/10	603	388	215	533	533	0	strelka-varscan-mutect	HNF4A,synonymous_variant,p.=,ENST00000316099,NM_001258355.1,NM_000457.4;HNF4A,synonymous_variant,p.=,ENST00000619550,NM_001287182.1,NM_001287183.1;HNF4A,synonymous_variant,p.=,ENST00000415691,NM_178849.2;HNF4A,synonymous_variant,p.=,ENST00000443598,NM_178850.2;HNF4A,synonymous_variant,p.=,ENST00000316673,NM_175914.4;HNF4A,synonymous_variant,p.=,ENST00000457232,NM_001030003.2;HNF4A,synonymous_variant,p.=,ENST00000609795,NM_001030004.2,NM_001287184.1;HNF4A,3_prime_UTR_variant,,ENST00000372920,;	T	ENST00000316099	Transcript	synonymous_variant	557/6445	468/1425	156/474	L	ctG/ctT	rs764197818	1		1	HNF4A	HGNC	HGNC:5024	protein_coding	YES	CCDS13330.1	ENSP00000312987	P41235	F1D8T1	UPI000016A0BA	NM_001258355.1,NM_000457.4			4/10		hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF41,Gene3D:1.10.565.10,Superfamily_domains:SSF48508																	LOW	1	SNV	1			1										PASS		rs764197818	.												T	2	4	3	44413776	44413776	G	T	1	0	0	0	0	0	0	0	1	7144	1306	46	2		2	HNF4A	20	44413776	Silent	SNP	G	11LU022_TP	2252325	44413776	20030391	989	1661											
ZNF334	0	.	GRCh38	chr20	46502557	46502557	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacaaacatacggtttctccCctgtatgaattctctgatgt	10	15	6	10	1	2	2	0	2	2	0	4	2	2	2	2	1	3	2	2	1	5	5	novel		11LU022_TP	11LU022_NB	C	C																c.782G>T	p.Gly261Val	p.G261V	ENST00000347606	5/5	89	54	35	77	77	0	strelka-varscan-mutect	ZNF334,missense_variant,p.Gly261Val,ENST00000347606,NM_018102.4;ZNF334,missense_variant,p.Gly260Val,ENST00000615481,;ZNF334,missense_variant,p.Gly223Val,ENST00000457685,;ZNF334,missense_variant,p.Gly284Val,ENST00000593880,;ZNF334,missense_variant,p.Gly260Val,ENST00000625284,NM_001270497.1;ZNF334,downstream_gene_variant,,ENST00000596323,;	A	ENST00000347606	Transcript	missense_variant	965/3890	782/2043	261/680	G/V	gGg/gTg		1		-1	ZNF334	HGNC	HGNC:15806	protein_coding	YES	CCDS33480.1	ENSP00000255129	Q9HCZ1		UPI000004A0FE	NM_018102.4	deleterious(0.03)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF116,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	46502557	46502557	C	A	1	0	0	0	0	1	0	0	0	18423	623	22	2		2	ZNF334	20	46502557	Missense_Mutation	SNP	C	11LU022_TP	2088781	46502557	17941610	990	1662											
PREX1	0	.	GRCh38	chr20	48632501	48632501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgaagctcacctttcGtgaacagcgctgtgtgcagc	8	9	12	12	2	1	2	1	2	0	0	2	2	1	2	2	1	5	3	2	1	2	1	rs558809203		11LU022_TP	11LU022_NB	G	G																c.4406C>T	p.Thr1469Met	p.T1469M	ENST00000371941	34/40	364	248	116	398	397	1	strelka-varscan-mutect	PREX1,missense_variant,p.Thr1469Met,ENST00000371941,NM_020820.3;PREX1,missense_variant,p.Thr791Met,ENST00000482556,;	A	ENST00000371941	Transcript	missense_variant	4429/6636	4406/4980	1469/1659	T/M	aCg/aTg	rs558809203,COSM3389808,COSM3389809	1		-1	PREX1	HGNC	HGNC:32594	protein_coding	YES	CCDS13410.1	ENSP00000361009	Q8TCU6		UPI000013D375	NM_020820.3	deleterious(0.02)		34/40		hmmpanther:PTHR22829:SF6,hmmpanther:PTHR22829											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs558809203	.												A	3	1	3	48632501	48632501	G	A	1	0	0	0	0	1	0	0	0	12610	1159	40	1		1	PREX1	20	48632501	Missense_Mutation	SNP	G	11LU022_TP	2129944	48632501	15811666	991	1663											
CEBPB	0	.	GRCh38	chr20	50191890	50191890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaacaacatcgccgtgcGcaagagccgcgacaaggcca	12	2	12	15	6	0	1	0	0	0	1	1	2	0	1	3	1	4	2	3	1	4	0	novel		11LU022_TP	11LU022_NB	G	G																c.857G>A	p.Arg286His	p.R286H	ENST00000303004	1/1	886	581	305	854	854	0	strelka-varscan-mutect	CEBPB,missense_variant,p.Arg286His,ENST00000303004,NM_001285879.1,NM_005194.3,NM_001285878.1;CEBPB-AS1,upstream_gene_variant,,ENST00000613921,;	A	ENST00000303004	Transcript	missense_variant	1157/1956	857/1038	286/345	R/H	cGc/cAc		1		1	CEBPB	HGNC	HGNC:1834	protein_coding	YES	CCDS13429.1	ENSP00000305422	P17676		UPI000000D8BA	NM_001285879.1,NM_005194.3,NM_001285878.1	deleterious(0)		1/1		PROSITE_profiles:PS50217,hmmpanther:PTHR23334:SF21,hmmpanther:PTHR23334,PIRSF_domain:PIRSF005879,Pfam_domain:PF07716,SMART_domains:SM00338,Superfamily_domains:SSF57959																	MODERATE		SNV				1										PASS		.	.												A	3	1	3	50191890	50191890	G	A	1	0	0	0	0	1	0	0	0	2906	1087	38	1		1	CEBPB	20	50191890	Missense_Mutation	SNP	G	11LU022_TP	1559389	50191890	14252277	992	1664											
DOK5	0	.	GRCh38	chr20	54610442	54610442	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacccgagacggggaggcCatctatcagaaagtccactc	12	5	11	13	2	2	3	1	0	1	3	4	5	3	4	3	3	0	0	3	3	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.654C>A	p.=	p.A218A	ENST00000262593	6/8	92	84	8	80	80	0	strelka-varscan-mutect	DOK5,synonymous_variant,p.=,ENST00000262593,NM_018431.4;DOK5,synonymous_variant,p.=,ENST00000395939,NM_177959.2;	A	ENST00000262593	Transcript	synonymous_variant	1004/1963	654/921	218/306	A	gcC/gcA		1		1	DOK5	HGNC	HGNC:16173	protein_coding	YES	CCDS13446.1	ENSP00000262593	Q9P104		UPI00001296AB	NM_018431.4			6/8		Gene3D:2.30.29.30,Pfam_domain:PF02174,PROSITE_profiles:PS51064,hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF45,SMART_domains:SM00310,SMART_domains:SM01244,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	54610442	54610442	C	A	1	0	0	0	0	0	0	0	1	4515	581	21	2		2	DOK5	20	54610442	Silent	SNP	C	11LU022_TP	4418552	54610442	9833725	993	1665											
MC3R	0	.	GRCh38	chr20	56248859	56248859	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatgaatgcttcgtgcTgcctgccctctgttcagcca	7	11	9	14	1	2	1	1	1	1	0	3	1	2	1	3	0	6	4	3	0	2	2			11LU022_TP	11LU022_NB	T	T																c.16T>A	p.Cys6Ser	p.C6S	ENST00000243911	1/1	213	146	67	171	171	0	strelka-varscan-mutect	MC3R,missense_variant,p.Cys6Ser,ENST00000243911,NM_019888.3;	A	ENST00000243911	Transcript	missense_variant	128/1084	16/972	6/323	C/S	Tgc/Agc	COSM4581899	1		1	MC3R	HGNC	HGNC:6931	protein_coding	YES	CCDS13449.2	ENSP00000243911	P41968		UPI0000E5A34B	NM_019888.3	tolerated_low_confidence(0.4)		1/1		Prints_domain:PR01061,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF4											1						MODERATE	1	SNV			1	1										PASS		rs1275101116	.												A	3	1	3	56248859	56248859	T	A	1	0	0	0	0	1	0	0	0	9298	1580	55	4		4	MC3R	20	56248859	Missense_Mutation	SNP	T	11LU022_TP	1638417	56248859	8195308	994	1666											
CSTF1	0	.	GRCh38	chr20	56403470	56403470	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctctctgtggcaggcGcgggtttaagtggacgccag	5	11	15	10	3	2	0	0	0	2	0	3	1	2	1	1	4	1	3	1	4	1	3	novel		11LU022_TP	11LU022_NB	G	G																c.1039G>C	p.Ala347Pro	p.A347P	ENST00000217109	6/6	139	120	19	107	107	0	strelka-varscan-mutect	CSTF1,missense_variant,p.Ala347Pro,ENST00000217109,NM_001033521.1,NM_001324.2,NM_001033522.1;CSTF1,downstream_gene_variant,,ENST00000415828,;CSTF1,downstream_gene_variant,,ENST00000452950,;CSTF1,splice_region_variant,,ENST00000493039,;CSTF1,downstream_gene_variant,,ENST00000490539,;	C	ENST00000217109	Transcript	missense_variant,splice_region_variant	1391/4290	1039/1296	347/431	A/P	Gcg/Ccg		1		1	CSTF1	HGNC	HGNC:2483	protein_coding	YES	CCDS13452.1	ENSP00000217109	Q05048		UPI0000000C1E	NM_001033521.1,NM_001324.2,NM_001033522.1	deleterious(0.05)		6/6		PROSITE_profiles:PS50294,hmmpanther:PTHR22840,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		rs1182787727	.												C	3	2	3	56403470	56403470	G	C	1	0	0	0	0	1	0	0	0	3783	1101	38	4		4	CSTF1	20	56403470	Missense_Mutation	SNP	G	11LU022_TP	154611	56403470	8040697	995	1667											
BMP7	0	.	GRCh38	chr20	57265931	57265931	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcgcgggcggtggggCaagcccaaaatggagaggat	9	4	20	8	4	0	1	0	0	0	1	0	3	0	2	1	7	2	1	1	7	3	0	novel		11LU022_TP	11LU022_NB	C	C																c.192G>T	p.Leu64Phe	p.L64F	ENST00000395863	1/7	284	181	103	297	297	0	strelka-varscan-mutect	BMP7,missense_variant,p.Leu64Phe,ENST00000395863,NM_001719.2;BMP7,missense_variant,p.Leu64Phe,ENST00000450594,;BMP7,missense_variant,p.Leu64Phe,ENST00000395864,;BMP7,upstream_gene_variant,,ENST00000433911,;RP4-813D12.3,upstream_gene_variant,,ENST00000412321,;RP4-813D12.3,upstream_gene_variant,,ENST00000426580,;	A	ENST00000395863	Transcript	missense_variant	698/4013	192/1296	64/431	L/F	ttG/ttT		1		-1	BMP7	HGNC	HGNC:1074	protein_coding	YES	CCDS13455.1	ENSP00000379204	P18075	A8K571	UPI00000349AD	NM_001719.2	deleterious(0)		1/7		Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135																	MODERATE	1	SNV	1			1										PASS		rs1377688221	.												A	3	1	3	57265931	57265931	C	A	1	0	0	0	0	1	0	0	0	1620	709	25	2		2	BMP7	20	57265931	Missense_Mutation	SNP	C	11LU022_TP	862461	57265931	7178236	996	1668											
CDH26	0	.	GRCh38	chr20	59958756	59958756	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatccgggaggcacccctcGctgctgctgcttctagtgct	5	10	12	14	2	1	1	0	0	1	1	3	2	2	2	3	2	4	6	3	2	1	2			11LU022_TP	11LU022_NB	G	G																c.30G>T	p.=	p.S10S	ENST00000348616	1/18	251	209	42	182	182	0	strelka-varscan-mutect	CDH26,synonymous_variant,p.=,ENST00000348616,NM_177980.2;	T	ENST00000348616	Transcript	synonymous_variant	330/3182	30/2499	10/832	S	tcG/tcT	COSM1028655,COSM1028656	1		1	CDH26	HGNC	HGNC:15902	protein_coding	YES	CCDS13485.1	ENSP00000339390	Q8IXH8		UPI000013CB55	NM_177980.2			1/18		Cleavage_site_(Signalp):SignalP-noTM											1,1						LOW	1	SNV	2		1,1	1										PASS		rs928943004	.												T	2	4	3	59958756	59958756	G	T	1	0	0	0	0	0	0	0	1	2813	1074	38	1		1	CDH26	20	59958756	Silent	SNP	G	11LU022_TP	2692825	59958756	4485411	997	1669											
NTSR1	0	.	GRCh38	chr20	62709239	62709239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccgcgccgggaacccCgggcacgccggccgccgacc	5	1	14	21	8	0	0	0	0	0	0	1	2	1	1	8	3	2	2	8	3	1	0	novel		11LU022_TP	11LU022_NB	C	C																c.32C>A	p.Pro11Gln	p.P11Q	ENST00000370501	1/4	103	61	42	110	110	0	strelka-varscan-mutect	NTSR1,missense_variant,p.Pro11Gln,ENST00000370501,NM_002531.2;	A	ENST00000370501	Transcript	missense_variant	403/4132	32/1257	11/418	P/Q	cCg/cAg		1		1	NTSR1	HGNC	HGNC:8039	protein_coding	YES	CCDS13502.1	ENSP00000359532	P30989		UPI000013D6CF	NM_002531.2	tolerated_low_confidence(0.43)		1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF9																	MODERATE	1	SNV	1			1										PASS		rs1470757486	.												A	3	1	3	62709239	62709239	C	A	1	0	0	0	0	1	0	0	0	10776	652	23	1		1	NTSR1	20	62709239	Missense_Mutation	SNP	C	11LU022_TP	2750483	62709239	1734928	998	1670											
CHRNA4	0	.	GRCh38	chr20	63350532	63350532	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggacgggatgatctcGgtgatgagcagcaggaagac	11	6	18	6	2	1	4	0	3	1	1	2	8	1	7	0	5	2	2	0	5	1	0	rs371527699		11LU022_TP	11LU022_NB	G	G																c.879C>A	p.=	p.T293T	ENST00000370263	5/6	752	425	327	1068	1068	0	strelka-varscan-mutect	CHRNA4,synonymous_variant,p.=,ENST00000615287,;CHRNA4,synonymous_variant,p.=,ENST00000370263,NM_001256573.1,NM_000744.6;CHRNA4,non_coding_transcript_exon_variant,,ENST00000463705,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000467563,;CHRNA4,downstream_gene_variant,,ENST00000628665,;CHRNA4,downstream_gene_variant,,ENST00000636652,;CHRNA4,downstream_gene_variant,,ENST00000637628,;CHRNA4,downstream_gene_variant,,ENST00000637243,;CHRNA4,3_prime_UTR_variant,,ENST00000627000,;CHRNA4,3_prime_UTR_variant,,ENST00000498043,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000630240,;CHRNA4,upstream_gene_variant,,ENST00000631289,;	T	ENST00000370263	Transcript	synonymous_variant	1057/5577	879/1884	293/627	T	acC/acA	rs371527699	1		-1	CHRNA4	HGNC	HGNC:1958	protein_coding	YES	CCDS13517.1	ENSP00000359285	P43681		UPI000012523B	NM_001256573.1,NM_000744.6			5/6		Gene3D:1.20.120.370,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF401,Low_complexity_(Seg):seg,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs371527699	.												T	2	4	3	63350532	63350532	G	T	1	0	0	0	0	0	0	0	1	3145	1103	39	1		1	CHRNA4	20	63350532	Silent	SNP	G	11LU022_TP	641293	63350532	1093635	999	1671											
TPTE	0	.	GRCh38	chr21	10542426	10542426	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatttaaaggagcaaccGaggaggcacctgcgaaagaa	16	5	13	7	2	0	2	0	1	0	1	0	6	0	4	2	3	3	2	2	3	6	2	rs751216471		11LU022_TP	11LU022_NB	G	G																c.97G>T	p.Glu33Ter	p.E33*	ENST00000618007	6/24	178	163	15	255	255	0	strelka-varscan-mutect	TPTE,stop_gained,p.Glu33Ter,ENST00000622113,NM_199259.3;TPTE,stop_gained,p.Glu33Ter,ENST00000618007,NM_199261.3;TPTE,stop_gained,p.Glu33Ter,ENST00000427445,NM_199260.3;TPTE,intron_variant,,ENST00000612746,NM_001290224.1;TPTE,intron_variant,,ENST00000612957,;AL078471.5,non_coding_transcript_exon_variant,,ENST00000612267,;	T	ENST00000618007	Transcript	stop_gained	427/2150	97/1656	33/551	E/*	Gag/Tag	rs751216471	1		1	TPTE	HGNC	HGNC:12023	protein_coding	YES	CCDS74771.1	ENSP00000484403	P56180		UPI000016A18A	NM_199261.3			6/24																			HIGH	1	SNV	1			1										PASS		rs751216471	.												T	4	4	3	10542426	10542426	G	T	1	0	0	0	0	0	1	0	0	16911	1059	37	1		1	TPTE	21	10542426	Nonsense_Mutation	SNP	G	11LU022_TP		10542426	36167557	1000	1672											
CYYR1	0	.	GRCh38	chr21	26566329	26566334	+	In_Frame_Del	DEL	TAAGAT	TAAGAT	-																															gcgtggttccatcacagcagTaagatttgcaatctttgcca																								novel		11LU022_TP	11LU022_NB	TAAGAT	TAAGAT																c.108_113delATCTTA	p.Lys36_Tyr38delinsAsn	p.K36_Y38delinsN	ENST00000299340	2/4	101	77	24	191	191	0	sindel-varindel-pindel	CYYR1,inframe_deletion,p.Lys36_Tyr38delinsAsn,ENST00000299340,NM_001320768.1,NM_052954.2;CYYR1,inframe_deletion,p.Lys36_Tyr38delinsAsn,ENST00000400043,;CYYR1-AS1,intron_variant,,ENST00000357401,;	-	ENST00000299340	Transcript	inframe_deletion	452-457/3101	108-113/465	36-38/154	KSY/N	aaATCTTAc/aac		1		-1	CYYR1	HGNC	HGNC:16274	protein_coding	YES	CCDS13578.1	ENSP00000299340	Q96J86		UPI0000128D80	NM_001320768.1,NM_052954.2			2/4		hmmpanther:PTHR38490,Pfam_domain:PF10873,PD588499																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	3	26566329	26566329	TAAGAT	-	1	0	1	0	1	0	0	0	0	4014	1638	57	0		0	CYYR1	21	26566329	In_Frame_Del	DEL	TAAGAT	11LU022_TP	16023903	26566329	20143654	1001	1673											
ADAMTS5	0	.	GRCh38	chr21	26965451	26965451	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaccaccaccttcaccacgGccaggcggatgtggttctcg	7	7	11	16	3	2	0	1	0	1	0	3	1	2	1	5	4	0	2	5	4	0	2	novel		11LU022_TP	11LU022_NB	G	G																c.941C>A	p.Ala314Asp	p.A314D	ENST00000284987	1/8	213	160	53	314	314	0	strelka-varscan-mutect	ADAMTS5,missense_variant,p.Ala314Asp,ENST00000284987,NM_007038.3;	T	ENST00000284987	Transcript	missense_variant	1063/9056	941/2793	314/930	A/D	gCc/gAc		1		-1	ADAMTS5	HGNC	HGNC:221	protein_coding	YES	CCDS13579.1	ENSP00000284987	Q9UNA0		UPI00001AEAC2	NM_007038.3	deleterious(0)		1/8		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF37,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	26965451	26965451	G	T	1	0	0	0	0	1	0	0	0	313	1203	42	2		2	ADAMTS5	21	26965451	Missense_Mutation	SNP	G	11LU022_TP	399122	26965451	19744532	1002	1674											
KRTAP13-4	0	.	GRCh38	chr21	30430503	30430503	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccatcctctgctgtccCtgtcagacgacttgctctgg	5	12	8	16	1	3	1	1	0	2	1	6	2	6	1	4	1	2	2	4	1	0	1	novel		11LU022_TP	11LU022_NB	C	C																c.228C>A	p.=	p.P76P	ENST00000334068	1/1	122	83	39	160	160	0	strelka-varscan-mutect	KRTAP13-4,synonymous_variant,p.=,ENST00000334068,NM_181600.1;KRTAP13-3,upstream_gene_variant,,ENST00000390690,NM_181622.1;	A	ENST00000334068	Transcript	synonymous_variant	274/797	228/483	76/160	P	ccC/ccA		1		1	KRTAP13-4	HGNC	HGNC:18926	protein_coding	YES	CCDS13592.1	ENSP00000334834	Q3LI77		UPI000003B46D	NM_181600.1			1/1		Pfam_domain:PF05287,hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF10																	LOW	1	SNV				1										PASS		.	.												A	2	1	3	30430503	30430503	C	A	1	0	0	0	0	0	0	0	1	8408	668	24	2		2	KRTAP13-4	21	30430503	Silent	SNP	C	11LU022_TP	3465052	30430503	16279480	1003	1675											
KRTAP13-4	0	.	GRCh38	chr21	30430656	30430656	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttttccttccctgagttaCggatccagattctgctaccc	6	14	8	13	1	1	2	0	1	1	1	4	3	4	3	4	2	3	3	4	2	2	6	rs776369477		11LU022_TP	11LU022_NB	C	C																c.381C>A	p.Tyr127Ter	p.Y127*	ENST00000334068	1/1	129	97	32	184	184	0	strelka-varscan-mutect	KRTAP13-4,stop_gained,p.Tyr127Ter,ENST00000334068,NM_181600.1;KRTAP13-3,upstream_gene_variant,,ENST00000390690,NM_181622.1;	A	ENST00000334068	Transcript	stop_gained	427/797	381/483	127/160	Y/*	taC/taA	rs776369477,COSM261727	1		1	KRTAP13-4	HGNC	HGNC:18926	protein_coding	YES	CCDS13592.1	ENSP00000334834	Q3LI77		UPI000003B46D	NM_181600.1			1/1		Pfam_domain:PF05287,hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF10											0,1						HIGH	1	SNV			0,1	1										PASS		rs776369477	.												A	4	1	3	30430656	30430656	C	A	1	0	0	0	0	0	1	0	0	8408	547	19	1		1	KRTAP13-4	21	30430656	Nonsense_Mutation	SNP	C	11LU022_TP	153	30430656	16279327	1004	1676											
CLDN14	0	.	GRCh38	chr21	36461680	36461680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagcccagaagctgcaCggccgtgctggccatggtgc	8	5	15	13	2	0	1	0	0	0	1	0	2	0	2	3	4	5	3	3	4	2	0	rs202117396		11LU022_TP	11LU022_NB	C	C																c.16G>T	p.Val6Leu	p.V6L	ENST00000399137	3/3	166	122	44	219	219	0	strelka-varscan-mutect	CLDN14,missense_variant,p.Val6Leu,ENST00000399137,NM_144492.2;CLDN14,missense_variant,p.Val6Leu,ENST00000399135,NM_001146079.1;CLDN14,missense_variant,p.Val6Leu,ENST00000342108,NM_001146077.1;CLDN14,missense_variant,p.Val6Leu,ENST00000399136,NM_001146078.2;CLDN14,missense_variant,p.Val6Leu,ENST00000399139,NM_012130.3;AP000695.6,intron_variant,,ENST00000429588,;AP000695.4,intron_variant,,ENST00000428667,;AP000695.4,downstream_gene_variant,,ENST00000454980,;	A	ENST00000399137	Transcript	missense_variant	883/1942	16/720	6/239	V/L	Gtg/Ttg	rs202117396	1		-1	CLDN14	HGNC	HGNC:2035	protein_coding	YES	CCDS13645.1	ENSP00000382090	O95500		UPI0000048F0B	NM_144492.2	tolerated(1)		3/3		Transmembrane_helices:TMhelix,hmmpanther:PTHR12002:SF99,hmmpanther:PTHR12002,Pfam_domain:PF00822																	MODERATE	1	SNV	1			1										PASS		rs202117396	.												A	3	1	3	36461680	36461680	C	A	1	0	0	0	0	1	0	0	0	3239	536	19	1		1	CLDN14	21	36461680	Missense_Mutation	SNP	C	11LU022_TP	6031024	36461680	10248303	1005	1677											
AIRE	0	.	GRCh38	chr21	44289676	44289676	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcggctccaagaagtgcatCcaggttggcggggagttcta	8	8	16	9	2	1	1	0	0	1	1	3	2	3	2	2	6	1	4	2	6	3	3	rs200611273		11LU022_TP	11LU022_NB	C	C																c.672C>A	p.=	p.I224I	ENST00000291582	6/14	131	97	34	240	239	1	strelka-varscan-mutect	AIRE,synonymous_variant,p.=,ENST00000291582,NM_000383.3;AIRE,non_coding_transcript_exon_variant,,ENST00000530812,;AIRE,non_coding_transcript_exon_variant,,ENST00000527919,;AIRE,upstream_gene_variant,,ENST00000337909,;AIRE,upstream_gene_variant,,ENST00000397994,;	A	ENST00000291582	Transcript	synonymous_variant	799/2257	672/1638	224/545	I	atC/atA	rs200611273	1		1	AIRE	HGNC	HGNC:360	protein_coding	YES	CCDS13706.1	ENSP00000291582	O43918		UPI0000030FA6	NM_000383.3			6/14		Gene3D:3.10.390.10,Pfam_domain:PF01342,Prints_domain:PR01711,PROSITE_profiles:PS50864,hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF15,SMART_domains:SM00258,Superfamily_domains:SSF63763																	LOW	1	SNV	1			1										PASS		rs200611273	.												A	2	1	3	44289676	44289676	C	A	1	0	0	0	0	0	0	0	1	514	845	30	2		2	AIRE	21	44289676	Silent	SNP	C	11LU022_TP	7827996	44289676	2420307	1006	1678											
CCT8L2	0	.	GRCh38	chr22	16591185	16591185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgagacagctaagcctgCattctctgccaaagttttag	10	12	9	10	0	2	1	0	1	2	1	3	2	2	1	2	0	4	3	2	0	3	4	novel		11LU022_TP	11LU022_NB	C	C																c.1366G>T	p.Ala456Ser	p.A456S	ENST00000359963	1/1	265	202	63	435	433	2	strelka-varscan-mutect	CCT8L2,missense_variant,p.Ala456Ser,ENST00000359963,NM_014406.4;FABP5P11,downstream_gene_variant,,ENST00000430910,;	A	ENST00000359963	Transcript	missense_variant	1626/2060	1366/1674	456/557	A/S	Gca/Tca		1		-1	CCT8L2	HGNC	HGNC:15553	protein_coding	YES	CCDS13738.1	ENSP00000353048	Q96SF2		UPI000006CF87	NM_014406.4	tolerated(0.32)		1/1		Gene3D:1.10.560.10,Pfam_domain:PF00118,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF100,Superfamily_domains:SSF48592																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	3	16591185	16591185	C	A	1	0	0	0	0	1	0	0	0	2662	710	25	2		2	CCT8L2	22	16591185	Missense_Mutation	SNP	C	11LU022_TP		16591185	34227283	1007	1679											
CCT8L2	0	.	GRCh38	chr22	16591349	16591349	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggatcttgacatagcTggaaataggcatcaatgccg	11	10	12	8	1	3	1	1	1	2	0	3	3	3	3	1	3	2	2	1	3	4	3	novel		11LU022_TP	11LU022_NB	T	T																c.1202A>T	p.Gln401Leu	p.Q401L	ENST00000359963	1/1	279	211	68	458	458	0	strelka-varscan-mutect	CCT8L2,missense_variant,p.Gln401Leu,ENST00000359963,NM_014406.4;FABP5P11,downstream_gene_variant,,ENST00000430910,;	A	ENST00000359963	Transcript	missense_variant	1462/2060	1202/1674	401/557	Q/L	cAg/cTg		1		-1	CCT8L2	HGNC	HGNC:15553	protein_coding	YES	CCDS13738.1	ENSP00000353048	Q96SF2		UPI000006CF87	NM_014406.4	tolerated(0.33)		1/1		Gene3D:3.30.260.10,Pfam_domain:PF00118,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF100,Superfamily_domains:SSF54849																	MODERATE	1	SNV				1										PASS		rs1318404497	.												A	3	1	3	16591349	16591349	T	A	1	0	0	0	0	1	0	0	0	2662	1580	55	4		4	CCT8L2	22	16591349	Missense_Mutation	SNP	T	11LU022_TP	164	16591349	34227119	1008	1680											
MICAL3	0	.	GRCh38	chr22	17817392	17817392	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtgctggggcaggacttgtCgtcggccttcttcttcttgt	2	15	14	10	2	3	0	0	0	3	0	5	1	3	1	1	5	1	2	1	5	0	5	novel		11LU022_TP	11LU022_NB	C	C																c.5269G>C	p.Asp1757His	p.D1757H	ENST00000441493	26/32	244	156	88	354	354	0	strelka-varscan-mutect	MICAL3,missense_variant,p.Asp1757His,ENST00000441493,NM_015241.2;MICAL3,missense_variant,p.Asp34His,ENST00000577821,;MICAL3,missense_variant,p.Asp12His,ENST00000579997,;MICAL3,downstream_gene_variant,,ENST00000498573,;MICAL3,downstream_gene_variant,,ENST00000578984,;MICAL3,upstream_gene_variant,,ENST00000580469,;	G	ENST00000441493	Transcript	missense_variant	5622/9445	5269/6009	1757/2002	D/H	Gac/Cac		1		-1	MICAL3	HGNC	HGNC:24694	protein_coding	YES	CCDS46659.1	ENSP00000416015	Q7RTP6		UPI0001823FDE	NM_015241.2	tolerated_low_confidence(0.16)		26/32		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs1006225019	.												G	3	3	3	17817392	17817392	C	G	1	0	0	0	0	1	0	0	0	9528	884	31	4		4	MICAL3	22	17817392	Missense_Mutation	SNP	C	11LU022_TP	1226043	17817392	33001076	1009	1681											
SDF2L1	0	.	GRCh38	chr22	21643965	21643965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtgcgctgctctggacaGcactgggagcgtgaggctgc	7	7	16	11	2	1	1	0	1	1	0	1	3	1	3	0	3	5	4	0	3	0	0	novel		11LU022_TP	11LU022_NB	G	G																c.456G>T	p.Gln152His	p.Q152H	ENST00000248958	3/3	314	211	103	459	459	0	strelka-varscan-mutect	SDF2L1,missense_variant,p.Gln152His,ENST00000248958,NM_022044.2;KB-1440D3.14,downstream_gene_variant,,ENST00000609038,;SDF2L1,downstream_gene_variant,,ENST00000466935,;	T	ENST00000248958	Transcript	missense_variant	532/865	456/666	152/221	Q/H	caG/caT		1		1	SDF2L1	HGNC	HGNC:10676	protein_coding	YES	CCDS13792.1	ENSP00000248958	Q9HCN8		UPI0000048F31	NM_022044.2	deleterious(0.04)		3/3		Gene3D:2.80.10.50,Pfam_domain:PF02815,PROSITE_profiles:PS50919,hmmpanther:PTHR10050,hmmpanther:PTHR10050:SF9,SMART_domains:SM00472,Superfamily_domains:SSF82109																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	21643965	21643965	G	T	1	0	0	0	0	1	0	0	0	14233	962	34	2		2	SDF2L1	22	21643965	Missense_Mutation	SNP	G	11LU022_TP	3826573	21643965	29174503	1010	1682											
ZNF280A	0	.	GRCh38	chr22	22515117	22515117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatctctgctgtttatatCtgaagtggaaagtcgctttg	9	15	11	6	1	2	1	0	1	2	0	4	3	2	3	0	2	1	3	0	2	5	4	novel		11LU022_TP	11LU022_NB	C	C																c.514G>A	p.Asp172Asn	p.D172N	ENST00000302097	2/2	226	162	64	273	273	0	strelka-varscan-mutect	ZNF280A,missense_variant,p.Asp172Asn,ENST00000302097,NM_080740.4;	T	ENST00000302097	Transcript	missense_variant	767/2148	514/1629	172/542	D/N	Gat/Aat		1		-1	ZNF280A	HGNC	HGNC:18597	protein_coding	YES	CCDS13800.1	ENSP00000302855	P59817		UPI000011B50C	NM_080740.4	tolerated(0.07)		2/2		Pfam_domain:PF13836																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	22515117	22515117	C	T	1	0	0	0	0	1	0	0	0	18390	913	32	3		3	ZNF280A	22	22515117	Missense_Mutation	SNP	C	11LU022_TP	871152	22515117	28303351	1011	1683											
ZNF280A	0	.	GRCh38	chr22	22515326	22515326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcagacagagaaaccGgcatgatggcttttgccata	11	8	10	12	1	1	3	1	1	0	2	1	4	1	3	4	2	2	2	4	2	2	3	novel		11LU022_TP	11LU022_NB	G	G																c.305C>A	p.Pro102Gln	p.P102Q	ENST00000302097	2/2	270	206	64	336	334	2	strelka-varscan-mutect	ZNF280A,missense_variant,p.Pro102Gln,ENST00000302097,NM_080740.4;	T	ENST00000302097	Transcript	missense_variant	558/2148	305/1629	102/542	P/Q	cCg/cAg		1		-1	ZNF280A	HGNC	HGNC:18597	protein_coding	YES	CCDS13800.1	ENSP00000302855	P59817		UPI000011B50C	NM_080740.4	deleterious(0)		2/2		Pfam_domain:PF13836																	MODERATE	1	SNV	1			1										PASS		rs1480649395	.												T	3	4	3	22515326	22515326	G	T	1	0	0	0	0	1	0	0	0	18390	1116	39	1		1	ZNF280A	22	22515326	Missense_Mutation	SNP	G	11LU022_TP	209	22515326	28303142	1012	1684											
SEC14L3	0	.	GRCh38	chr22	30462131	30462131	+	Silent	SNP	C	C	A																															tctgggtcagtcagggtgccCccaaactgggcaggcagttc																								novel		11LU022_TP	11LU022_NB	C	C																c.726G>T	p.=	p.G242G	ENST00000215812	9/12	160	118	42	219	218	1	strelka-varscan-mutect	SEC14L3,synonymous_variant,p.=,ENST00000403066,;SEC14L3,synonymous_variant,p.=,ENST00000540910,;SEC14L3,synonymous_variant,p.=,ENST00000215812,NM_174975.4;SEC14L3,synonymous_variant,p.=,ENST00000402286,NM_001257378.1;SEC14L3,synonymous_variant,p.=,ENST00000401751,NM_001257379.1,NM_001257382.1;SEC14L3,synonymous_variant,p.=,ENST00000435069,;SEC14L3,3_prime_UTR_variant,,ENST00000434642,;	A	ENST00000215812	Transcript	synonymous_variant	817/2086	726/1203	242/400	G	ggG/ggT		1		-1	SEC14L3	HGNC	HGNC:18655	protein_coding	YES	CCDS13877.1	ENSP00000215812	Q9UDX4		UPI000000D83C	NM_174975.4			9/12		PROSITE_profiles:PS50191,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF62,Pfam_domain:PF00650,Gene3D:3.40.525.10,SMART_domains:SM00516,Superfamily_domains:SSF52087,Prints_domain:PR00180																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	3	30462131	30462131	C	A	1	0	0	0	0	0	0	0	1	14259	610	22	2		2	SEC14L3	22	30462131	Silent	SNP	C	11LU022_TP	7946805	30462131	20356337	1013	1685	40	2									
SEC14L3	0	.	GRCh38	chr22	30462132	30462132	+	Missense_Mutation	SNP	C	C	A																															ctgggtcagtcagggtgcccCcaaactgggcaggcagttcc																								novel		11LU022_TP	11LU022_NB	C	C																c.725G>T	p.Gly242Val	p.G242V	ENST00000215812	9/12	157	115	42	219	219	0	strelka-varscan-mutect	SEC14L3,missense_variant,p.Gly183Val,ENST00000403066,;SEC14L3,missense_variant,p.Gly165Val,ENST00000540910,;SEC14L3,missense_variant,p.Gly242Val,ENST00000215812,NM_174975.4;SEC14L3,missense_variant,p.Gly165Val,ENST00000402286,NM_001257378.1;SEC14L3,missense_variant,p.Gly183Val,ENST00000401751,NM_001257379.1,NM_001257382.1;SEC14L3,missense_variant,p.Gly208Val,ENST00000435069,;SEC14L3,3_prime_UTR_variant,,ENST00000434642,;	A	ENST00000215812	Transcript	missense_variant	816/2086	725/1203	242/400	G/V	gGg/gTg		1		-1	SEC14L3	HGNC	HGNC:18655	protein_coding	YES	CCDS13877.1	ENSP00000215812	Q9UDX4		UPI000000D83C	NM_174975.4	deleterious(0)		9/12		PROSITE_profiles:PS50191,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF62,Pfam_domain:PF00650,Gene3D:3.40.525.10,SMART_domains:SM00516,Superfamily_domains:SSF52087,Prints_domain:PR00180																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	30462132	30462132	C	A	1	0	0	0	0	1	0	0	0	14259	623	22	2		2	SEC14L3	22	30462132	Missense_Mutation	SNP	C	11LU022_TP	1	30462132	20356336	1014	1686	40	2									
SYN3	0	.	GRCh38	chr22	32596718	32596718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcccagcttgactaccaccgGgaagtgtggggctgtgacct	7	9	13	12	1	0	2	0	2	0	0	1	3	1	3	4	3	2	2	4	3	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.730C>A	p.Pro244Thr	p.P244T	ENST00000358763	7/14	120	92	28	171	171	0	strelka-varscan-mutect	SYN3,missense_variant,p.Pro244Thr,ENST00000358763,NM_001135774.1,NM_003490.3,NM_133633.2;	T	ENST00000358763	Transcript	missense_variant	973/3126	730/1743	244/580	P/T	Ccg/Acg		1		-1	SYN3	HGNC	HGNC:11496	protein_coding	YES	CCDS13908.1	ENSP00000351614	O14994	A0A024R1I8	UPI00001365D3	NM_001135774.1,NM_003490.3,NM_133633.2	deleterious(0)		7/14		hmmpanther:PTHR10841,Pfam_domain:PF02750,Gene3D:3.30.1490.20,Superfamily_domains:SSF56059																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	3	32596718	32596718	G	T	1	0	0	0	0	1	0	0	0	15832	1232	43	2		2	SYN3	22	32596718	Missense_Mutation	SNP	G	11LU022_TP	2134586	32596718	18221750	1015	1687											
ISX	0	.	GRCh38	chr22	35085659	35085659	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catccttccacctccacaccCcaaatggggcagcatctgtg	9	8	7	17	0	1	0	0	0	1	0	4	0	4	0	6	2	1	2	6	2	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.704C>A	p.Pro235His	p.P235H	ENST00000308700	4/4	250	183	67	330	330	0	strelka-varscan-mutect	ISX,missense_variant,p.Pro235His,ENST00000308700,;ISX,missense_variant,p.Pro235His,ENST00000404699,NM_001303508.1;	A	ENST00000308700	Transcript	missense_variant	1656/3384	704/738	235/245	P/H	cCc/cAc		1		1	ISX	HGNC	HGNC:28084	protein_coding	YES	CCDS33640.1	ENSP00000311492	Q2M1V0		UPI00001BE8E5		deleterious(0)		4/4		hmmpanther:PTHR24329:SF362,hmmpanther:PTHR24329																	MODERATE	1	SNV	1			1										PASS		rs1357492807	.												A	3	1	3	35085659	35085659	C	A	1	0	0	0	0	1	0	0	0	7773	623	22	2		2	ISX	22	35085659	Missense_Mutation	SNP	C	11LU022_TP	2488941	35085659	15732809	1016	1688											
APOL5	0	.	GRCh38	chr22	35726820	35726820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcctaccagatggccaaatCcaactctggcttcatggcta	10	10	8	13	0	2	1	1	0	1	1	3	1	3	1	4	3	3	2	4	3	4	3	novel		11LU022_TP	11LU022_NB	C	C																c.752C>T	p.Ser251Phe	p.S251F	ENST00000249044	3/5	163	117	46	257	257	0	strelka-varscan-mutect	APOL5,missense_variant,p.Ser251Phe,ENST00000249044,NM_030642.1;	T	ENST00000249044	Transcript	missense_variant	752/1438	752/1302	251/433	S/F	tCc/tTc		1		1	APOL5	HGNC	HGNC:14869	protein_coding	YES	CCDS13920.1	ENSP00000249044	Q9BWW9		UPI0000125C99	NM_030642.1	deleterious(0.01)		3/5		hmmpanther:PTHR14096:SF6,hmmpanther:PTHR14096,Pfam_domain:PF05461																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	35726820	35726820	C	T	1	0	0	0	0	1	0	0	0	931	855	30	3		3	APOL5	22	35726820	Missense_Mutation	SNP	C	11LU022_TP	641161	35726820	15091648	1017	1689											
CYTH4	0	.	GRCh38	chr22	37311028	37311028	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacggcgctggttcatcctGaccgacaactgcctctacta	10	9	8	14	3	2	1	1	1	1	0	3	2	3	1	3	2	4	2	3	2	4	3	novel		11LU022_TP	11LU022_NB	G	G																c.849G>C	p.=	p.L283L	ENST00000248901	10/13	116	87	29	177	177	0	strelka-varscan-mutect	CYTH4,synonymous_variant,p.=,ENST00000248901,NM_001318024.1,NM_013385.3;CYTH4,synonymous_variant,p.=,ENST00000446506,;CYTH4,non_coding_transcript_exon_variant,,ENST00000462927,;	C	ENST00000248901	Transcript	synonymous_variant	1036/3206	849/1185	283/394	L	ctG/ctC		1		1	CYTH4	HGNC	HGNC:9505	protein_coding	YES	CCDS13946.1	ENSP00000248901	Q9UIA0		UPI000000D99D	NM_001318024.1,NM_013385.3			10/13		PROSITE_profiles:PS50003,hmmpanther:PTHR10663,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	3	37311028	37311028	G	C	1	0	0	0	0	0	0	0	1	4011	1277	45	4		4	CYTH4	22	37311028	Silent	SNP	G	11LU022_TP	1584208	37311028	13507440	1018	1690											
ELFN2	0	.	GRCh38	chr22	37374724	37374724	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggttgaagcccgagttctCgtctggctccctctgggcgt	3	11	15	12	3	3	1	0	1	3	0	5	2	4	1	2	4	1	3	2	4	1	2	novel		11LU022_TP	11LU022_NB	C	C																c.811G>T	p.Glu271Ter	p.E271*	ENST00000402918	3/3	158	106	52	223	223	0	strelka-varscan-mutect	ELFN2,stop_gained,p.Glu271Ter,ENST00000402918,NM_052906.4;ELFN2,stop_gained,p.Glu271Ter,ENST00000613079,;ELFN2,intron_variant,,ENST00000430883,;ELFN2,intron_variant,,ENST00000452946,;RP1-63G5.8,downstream_gene_variant,,ENST00000609322,;ELFN2,downstream_gene_variant,,ENST00000435824,;ELFN2,downstream_gene_variant,,ENST00000415408,;ELFN2,downstream_gene_variant,,ENST00000414347,;ELFN2,downstream_gene_variant,,ENST00000451509,;ELFN2,downstream_gene_variant,,ENST00000424973,;	A	ENST00000402918	Transcript	stop_gained	1597/8361	811/2463	271/820	E/*	Gag/Tag		1		-1	ELFN2	HGNC	HGNC:29396	protein_coding	YES	CCDS33642.1	ENSP00000385277	Q5R3F8		UPI000004E87D	NM_052906.4			3/3		hmmpanther:PTHR24367:SF248,hmmpanther:PTHR24367																	HIGH		SNV	4			1										PASS		rs1432979878	.												A	4	1	3	37374724	37374724	C	A	1	0	0	0	0	0	1	0	0	4892	893	31	1		1	ELFN2	22	37374724	Nonsense_Mutation	SNP	C	11LU022_TP	63696	37374724	13443744	1019	1691											
PICK1	0	.	GRCh38	chr22	38072533	38072533	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccagccagctgcgagcGaggcttttgtgaagttcgcc	7	8	13	13	3	0	1	0	1	0	0	1	3	0	1	4	1	5	3	4	1	1	3	rs200906170		11LU022_TP	11LU022_NB	G	G																c.613G>T	p.Glu205Ter	p.E205*	ENST00000404072	9/13	217	160	57	397	397	0	strelka-varscan-mutect	PICK1,stop_gained,p.Glu205Ter,ENST00000404072,NM_001039584.1,NM_001039583.1;PICK1,stop_gained,p.Glu205Ter,ENST00000356976,NM_012407.3;PICK1,stop_gained,p.Glu205Ter,ENST00000424694,;PICK1,downstream_gene_variant,,ENST00000435166,;PICK1,downstream_gene_variant,,ENST00000437453,;RP5-1039K5.13,intron_variant,,ENST00000445483,;PICK1,downstream_gene_variant,,ENST00000468288,;PICK1,non_coding_transcript_exon_variant,,ENST00000484021,;PICK1,non_coding_transcript_exon_variant,,ENST00000494434,;PICK1,downstream_gene_variant,,ENST00000466374,;PICK1,downstream_gene_variant,,ENST00000432756,;PICK1,downstream_gene_variant,,ENST00000426258,;PICK1,downstream_gene_variant,,ENST00000472724,;	T	ENST00000404072	Transcript	stop_gained	960/2164	613/1248	205/415	E/*	Gag/Tag	rs200906170,COSM580036	1		1	PICK1	HGNC	HGNC:9394	protein_coding	YES	CCDS13965.1	ENSP00000385205	Q9NRD5	A0A024R1J5	UPI0000131A98	NM_001039584.1,NM_001039583.1			9/13		PROSITE_profiles:PS50870,hmmpanther:PTHR12141:SF1,hmmpanther:PTHR12141,Pfam_domain:PF06456,Gene3D:1.20.1270.60,SMART_domains:SM01015,Superfamily_domains:SSF103657											0,1						HIGH	1	SNV	2		0,1	1										PASS		rs200906170	.												T	4	4	3	38072533	38072533	G	T	1	0	0	0	0	0	1	0	0	11971	1059	37	1		1	PICK1	22	38072533	Nonsense_Mutation	SNP	G	11LU022_TP	697809	38072533	12745935	1020	1692											
ENTHD1	0	.	GRCh38	chr22	39765483	39765483	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaccttctgcagctgatTgcttttctaaaggtgtttcc	8	16	8	9	0	2	2	0	1	2	1	3	2	3	2	2	1	3	4	2	1	3	7	novel		11LU022_TP	11LU022_NB	T	T																c.959A>G	p.Gln320Arg	p.Q320R	ENST00000325157	6/7	170	125	45	217	217	0	strelka-varscan-mutect	ENTHD1,missense_variant,p.Gln320Arg,ENST00000325157,NM_152512.3;	C	ENST00000325157	Transcript	missense_variant	1210/2710	959/1824	320/607	Q/R	cAa/cGa		1		-1	ENTHD1	HGNC	HGNC:26352	protein_coding	YES	CCDS13998.1	ENSP00000317431	Q8IYW4		UPI00000741D2	NM_152512.3	deleterious(0.01)		6/7		hmmpanther:PTHR12276:SF57,hmmpanther:PTHR12276																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	39765483	39765483	T	C	1	0	0	0	0	1	0	0	0	4982	1812	63	5		5	ENTHD1	22	39765483	Missense_Mutation	SNP	T	11LU022_TP	1692950	39765483	11052985	1021	1693											
EFCAB6	0	.	GRCh38	chr22	43671986	43671986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttactttatgaaatgtgCattcgttaaaaatggacaga	16	13	7	5	1	0	2	0	1	0	1	1	3	0	3	0	1	3	2	0	1	7	5	novel		11LU022_TP	11LU022_NB	C	C																c.1627G>A	p.Ala543Thr	p.A543T	ENST00000262726	15/32	73	48	25	101	101	0	strelka-varscan-mutect	EFCAB6,missense_variant,p.Ala543Thr,ENST00000262726,NM_022785.3;EFCAB6,missense_variant,p.Ala391Thr,ENST00000396231,NM_198856.2;EFCAB6,non_coding_transcript_exon_variant,,ENST00000468552,;	T	ENST00000262726	Transcript	missense_variant	1881/4869	1627/4506	543/1501	A/T	Gca/Aca		1		-1	EFCAB6	HGNC	HGNC:24204	protein_coding	YES	CCDS14049.1	ENSP00000262726	Q5THR3		UPI0000225CD7	NM_022785.3	deleterious(0.02)		15/32		Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	43671986	43671986	C	T	1	0	0	0	0	1	0	0	0	4773	710	25	3		3	EFCAB6	22	43671986	Missense_Mutation	SNP	C	11LU022_TP	3906503	43671986	7146482	1022	1694											
PHF21B	0	.	GRCh38	chr22	44920484	44920484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactgcagtgatcgttcCcaaagcctgaaacatacagg	13	7	10	11	1	0	2	0	2	0	0	2	2	1	2	2	2	4	3	2	2	3	2	novel		11LU022_TP	11LU022_NB	C	C																c.127G>A	p.Gly43Arg	p.G43R	ENST00000313237	3/13	115	87	28	201	201	0	strelka-varscan-mutect	PHF21B,missense_variant,p.Gly43Arg,ENST00000313237,NM_138415.4;PHF21B,missense_variant,p.Gly31Arg,ENST00000396103,NM_001242450.1;PHF21B,missense_variant,p.Gly43Arg,ENST00000629843,NM_001135862.2;PHF21B,missense_variant,p.Gly31Arg,ENST00000420689,;PHF21B,5_prime_UTR_variant,,ENST00000403565,NM_001284296.1;PHF21B,intron_variant,,ENST00000414269,;PHF21B,non_coding_transcript_exon_variant,,ENST00000490679,;PHF21B,non_coding_transcript_exon_variant,,ENST00000460507,;PHF21B,non_coding_transcript_exon_variant,,ENST00000474327,;	T	ENST00000313237	Transcript	missense_variant	278/3671	127/1596	43/531	G/R	Gga/Aga		1		-1	PHF21B	HGNC	HGNC:25161	protein_coding	YES	CCDS14061.1	ENSP00000324403	Q96EK2	A0A0S2Z6R3	UPI0000072111	NM_138415.4	deleterious(0)		3/13		hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	44920484	44920484	C	T	1	0	0	0	0	1	0	0	0	11920	632	22	3		3	PHF21B	22	44920484	Missense_Mutation	SNP	C	11LU022_TP	1248498	44920484	5897984	1023	1695											
PUDP	0	.	GRCh38	chrX	7050299	7050299	+	Missense_Mutation	SNP	C	C	A																															gactgaggccctccctctcaCtcataggagggcaaaccaaa																								novel		11LU022_TP	11LU022_NB	C	C																c.753G>T	p.Glu251Asp	p.E251D	ENST00000424830	5/5	40	31	9	51	51	0	strelka-varscan-mutect	PUDP,missense_variant,p.Glu228Asp,ENST00000381077,NM_012080.4;PUDP,missense_variant,p.Glu185Asp,ENST00000412827,NM_001178136.1;PUDP,missense_variant,p.Glu251Asp,ENST00000424830,NM_001135565.1;	A	ENST00000424830	Transcript	missense_variant	798/1334	753/756	251/251	E/D	gaG/gaT		1		-1	PUDP	HGNC	HGNC:16818	protein_coding	YES	CCDS48076.1	ENSP00000396452	Q08623		UPI0001818C59	NM_001135565.1	tolerated(1)		5/5		hmmpanther:PTHR18901,hmmpanther:PTHR18901:SF38																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	3	7050299	7050299	C	A	1	0	0	0	0	1	0	0	0	12980	564	20	2		2	PUDP	23	7050299	Missense_Mutation	SNP	C	11LU022_TP		7050299	148990596	1024	1696	41	2									
PUDP	0	.	GRCh38	chrX	7050300	7050300	+	Missense_Mutation	SNP	T	T	C																															actgaggccctccctctcacTcataggagggcaaaccaaac																								novel		11LU022_TP	11LU022_NB	T	T																c.752A>G	p.Glu251Gly	p.E251G	ENST00000424830	5/5	39	30	9	53	53	0	strelka-varscan-mutect	PUDP,missense_variant,p.Glu228Gly,ENST00000381077,NM_012080.4;PUDP,missense_variant,p.Glu185Gly,ENST00000412827,NM_001178136.1;PUDP,missense_variant,p.Glu251Gly,ENST00000424830,NM_001135565.1;	C	ENST00000424830	Transcript	missense_variant	797/1334	752/756	251/251	E/G	gAg/gGg		1		-1	PUDP	HGNC	HGNC:16818	protein_coding	YES	CCDS48076.1	ENSP00000396452	Q08623		UPI0001818C59	NM_001135565.1	deleterious(0)		5/5		hmmpanther:PTHR18901,hmmpanther:PTHR18901:SF38																	MODERATE	1	SNV	3			1										PASS		.	.												C	3	2	3	7050300	7050300	T	C	1	0	0	0	0	1	0	0	0	12980	1551	54	5		5	PUDP	23	7050300	Missense_Mutation	SNP	T	11LU022_TP	1	7050300	148990595	1025	1697	41	2									
EGFL6	0	.	GRCh38	chrX	13633024	13633024	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaagggcaaaaccggcGaaatcgcagtggatggcgtc	11	5	16	9	4	0	0	0	0	0	0	2	2	0	1	1	5	1	3	1	5	4	0	rs774018380		11LU022_TP	11LU022_NB	G	G																c.1594G>T	p.Glu532Ter	p.E532*	ENST00000380602	12/12	111	66	45	106	106	0	strelka-varscan-mutect	EGFL6,stop_gained,p.Glu531Ter,ENST00000361306,NM_015507.3;EGFL6,stop_gained,p.Glu532Ter,ENST00000380602,NM_001167890.1;	T	ENST00000380602	Transcript	stop_gained	1834/2385	1594/1665	532/554	E/*	Gaa/Taa	rs774018380,COSM4529206,COSM4529207	1		1	EGFL6	HGNC	HGNC:3235	protein_coding	YES	CCDS55370.1	ENSP00000369976	Q8IUX8		UPI0000034CAE	NM_001167890.1			12/12		Pfam_domain:PF00629,PROSITE_profiles:PS50060,hmmpanther:PTHR24050,hmmpanther:PTHR24050:SF18,SMART_domains:SM00137,Superfamily_domains:SSF49899											0,1,1						HIGH	1	SNV	1		0,1,1	1										PASS		rs774018380	.												T	4	4	3	13633024	13633024	G	T	1	0	0	0	0	0	1	0	0	4799	1059	37	1		1	EGFL6	23	13633024	Nonsense_Mutation	SNP	G	11LU022_TP	6582724	13633024	142407871	1026	1698											
BEND2	0	.	GRCh38	chrX	18171016	18171016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacctcggagagcactaaTcttattggggtcaagggcac	12	8	11	10	1	2	1	1	0	1	1	3	2	2	1	1	4	2	2	1	4	4	3	novel		11LU022_TP	11LU022_NB	T	T																c.2170A>G	p.Ile724Val	p.I724V	ENST00000380033	13/14	150	88	62	145	145	0	strelka-varscan-mutect	BEND2,missense_variant,p.Ile724Val,ENST00000380033,NM_153346.4;BEND2,missense_variant,p.Ile633Val,ENST00000380030,NM_001184767.1;	C	ENST00000380033	Transcript	missense_variant	2303/4611	2170/2400	724/799	I/V	Att/Gtt		1		-1	BEND2	HGNC	HGNC:28509	protein_coding	YES	CCDS14184.1	ENSP00000369372	Q8NDZ0		UPI000013FE0F	NM_153346.4	deleterious(0.01)		13/14		PROSITE_profiles:PS51457,hmmpanther:PTHR16213:SF35,hmmpanther:PTHR16213,Pfam_domain:PF10523,SMART_domains:SM01025																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	18171016	18171016	T	C	1	0	0	0	0	1	0	0	0	1546	1435	50	5		5	BEND2	23	18171016	Missense_Mutation	SNP	T	11LU022_TP	4537992	18171016	137869879	1027	1699											
ZFX	0	.	GRCh38	chrX	24208347	24208347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatcaaaaccttcatgcCgattgcatgggcagcagctt	12	10	9	10	1	2	1	2	1	0	0	2	2	2	1	2	1	5	4	2	1	3	3	novel		11LU022_TP	11LU022_NB	C	C																c.1070C>T	p.Pro357Leu	p.P357L	ENST00000379177	9/11	112	90	22	115	115	0	strelka-varscan-mutect	ZFX,missense_variant,p.Pro357Leu,ENST00000379177,NM_001178095.1,NM_001178084.1,NM_001178085.1,NM_003410.3;ZFX,missense_variant,p.Pro396Leu,ENST00000379188,;ZFX,missense_variant,p.Pro128Leu,ENST00000539115,NM_001178086.1;ZFX,missense_variant,p.Pro357Leu,ENST00000304543,;ZFX,missense_variant,p.Pro307Leu,ENST00000338565,;ZFX,intron_variant,,ENST00000459724,;	T	ENST00000379177	Transcript	missense_variant	1497/7558	1070/2418	357/805	P/L	cCg/cTg		1		1	ZFX	HGNC	HGNC:12869	protein_coding	YES	CCDS14211.1	ENSP00000368475	P17010	A0A024RC04	UPI000013C504	NM_001178095.1,NM_001178084.1,NM_001178085.1,NM_003410.3	tolerated(0.06)		9/11		hmmpanther:PTHR24387:SF222,hmmpanther:PTHR24387,Pfam_domain:PF04704																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	24208347	24208347	C	T	1	0	0	0	0	1	0	0	0	18239	652	23	1		1	ZFX	23	24208347	Missense_Mutation	SNP	C	11LU022_TP	6037331	24208347	131832548	1028	1700											
FAM47A	0	.	GRCh38	chrX	34130820	34130820	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtggagactggacctccGacgtgtcttgggatgttccg	6	10	15	10	4	1	1	0	0	1	1	3	6	3	3	3	3	0	1	3	3	0	2			11LU022_TP	11LU022_NB	G	G																c.1459C>A	p.=	p.R487R	ENST00000346193	1/1	31	22	9	30	30	0	strelka-varscan-mutect	FAM47A,synonymous_variant,p.=,ENST00000346193,NM_203408.3;FAM47A,synonymous_variant,p.=,ENST00000613251,;	T	ENST00000346193	Transcript	synonymous_variant	1492/2556	1459/2376	487/791	R	Cgg/Agg	COSM5587775	1		-1	FAM47A	HGNC	HGNC:29962	protein_coding	YES	CCDS43926.1	ENSP00000345029	Q5JRC9		UPI000013F1F4	NM_203408.3			1/1		Pfam_domain:PF14642											1						LOW	1	SNV			1	1										PASS		rs1173809696	.												T	2	4	3	34130820	34130820	G	T	1	0	0	0	0	0	0	0	1	5447	1057	37	1		1	FAM47A	23	34130820	Silent	SNP	G	11LU022_TP	9922473	34130820	121910075	1029	1701											
MAGEB16	0	.	GRCh38	chrX	35802456	35802456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagtgaatctgatgaggcttCcagcaatcaagaagaggaag	16	7	12	6	0	2	5	1	3	1	2	3	6	3	6	1	2	1	2	1	2	6	1	novel		11LU022_TP	11LU022_NB	C	C																c.260C>G	p.Ser87Cys	p.S87C	ENST00000399989	2/2	60	33	27	67	67	0	strelka-varscan-mutect	MAGEB16,missense_variant,p.Ser87Cys,ENST00000399989,NM_001099921.1;MAGEB16,missense_variant,p.Ser87Cys,ENST00000399987,;MAGEB16,missense_variant,p.Ser119Cys,ENST00000399992,;MAGEB16,missense_variant,p.Ser87Cys,ENST00000399988,;MAGEB16,missense_variant,p.Ser87Cys,ENST00000399985,;	G	ENST00000399989	Transcript	missense_variant	539/1818	260/975	87/324	S/C	tCc/tGc		1		1	MAGEB16	HGNC	HGNC:21188	protein_coding	YES	CCDS43927.1	ENSP00000382871	A2A368		UPI00006C1BC1	NM_001099921.1	deleterious(0)		2/2		Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF24,Low_complexity_(Seg):seg,SMART_domains:SM01392																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	3	35802456	35802456	C	G	1	0	0	0	0	1	0	0	0	9089	855	30	4		4	MAGEB16	23	35802456	Missense_Mutation	SNP	C	11LU022_TP	1671636	35802456	120238439	1030	1702											
FAM47C	0	.	GRCh38	chrX	37008981	37008981	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaattctcccctcggcctCccgagactcgggtgtcctgt	4	10	12	15	3	1	1	0	0	1	1	6	3	3	2	5	3	0	0	5	3	1	1	novel		11LU022_TP	11LU022_NB	C	C																c.571C>A	p.Pro191Thr	p.P191T	ENST00000358047	1/1	84	42	42	100	100	0	strelka-varscan-mutect	FAM47C,missense_variant,p.Pro191Thr,ENST00000358047,NM_001013736.2;	A	ENST00000358047	Transcript	missense_variant	585/3270	571/3108	191/1035	P/T	Ccc/Acc		1		1	FAM47C	HGNC	HGNC:25301	protein_coding	YES	CCDS35227.1	ENSP00000367913	Q5HY64		UPI000041ABF8	NM_001013736.2	deleterious(0.04)		1/1		hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	3	37008981	37008981	C	A	1	0	0	0	0	1	0	0	0	5449	855	30	2		2	FAM47C	23	37008981	Missense_Mutation	SNP	C	11LU022_TP	1206525	37008981	119031914	1031	1703											
MED14	0	.	GRCh38	chrX	40712280	40712280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatttgcatgctatgaacCaaagctcgcccatcttccgt	9	12	7	13	2	1	2	0	2	1	0	3	2	2	2	3	0	4	3	3	0	3	3	rs759299724		11LU022_TP	11LU022_NB	C	C																c.795G>T	p.Leu265Phe	p.L265F	ENST00000324817	7/31	64	33	31	67	67	0	strelka-varscan-mutect	MED14,missense_variant,p.Leu265Phe,ENST00000324817,NM_004229.3;MED14,downstream_gene_variant,,ENST00000492219,;MED14,downstream_gene_variant,,ENST00000482034,;	A	ENST00000324817	Transcript	missense_variant	914/7984	795/4365	265/1454	L/F	ttG/ttT	rs759299724	1		-1	MED14	HGNC	HGNC:2370	protein_coding	YES	CCDS14254.1	ENSP00000323720	O60244		UPI00001414B1	NM_004229.3	deleterious(0)		7/31		hmmpanther:PTHR12809																	MODERATE	1	SNV	1			1										PASS		rs759299724	.												A	3	1	3	40712280	40712280	C	A	1	0	0	0	0	1	0	0	0	9371	593	21	2		2	MED14	23	40712280	Missense_Mutation	SNP	C	11LU022_TP	3703299	40712280	115328615	1032	1704											
NYX	0	.	GRCh38	chrX	41474012	41474012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggccaacctgacgcacGcgcacctggagcgcggccgc	6	3	14	18	6	0	1	0	1	0	0	0	2	0	2	5	3	2	2	5	3	1	0			11LU022_TP	11LU022_NB	G	G																c.559G>T	p.Ala187Ser	p.A187S	ENST00000342595	2/2	88	43	45	52	52	0	strelka-varscan-mutect	NYX,missense_variant,p.Ala187Ser,ENST00000342595,NM_022567.2;NYX,missense_variant,p.Ala187Ser,ENST00000378220,;NYX,downstream_gene_variant,,ENST00000486842,;RP1-169I5.4,upstream_gene_variant,,ENST00000451718,;	T	ENST00000342595	Transcript	missense_variant	1015/2713	559/1446	187/481	A/S	Gcg/Tcg	CP005303	1		1	NYX	HGNC	HGNC:8082	protein_coding	YES	CCDS14256.1	ENSP00000340328	Q9GZU5		UPI0000130B37	NM_022567.2	deleterious(0.01)		2/2		Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	3	41474012	41474012	G	T	1	0	0	0	0	1	0	0	0	10875	1087	38	1		1	NYX	23	41474012	Missense_Mutation	SNP	G	11LU022_TP	761732	41474012	114566883	1033	1705											
SSX5	0	.	GRCh38	chrX	48187675	48187675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgatctcttcataaatcaCcagttgctttctctcacgca	9	14	5	13	1	5	1	3	1	2	0	7	1	5	1	1	0	1	4	1	0	2	4	novel		11LU022_TP	11LU022_NB	C	C																c.646G>T	p.Val216Leu	p.V216L	ENST00000311798	8/9	101	65	36	121	121	0	strelka-varscan-mutect	SSX5,missense_variant,p.Val216Leu,ENST00000311798,NM_021015.3;SSX5,missense_variant,p.Val175Leu,ENST00000347757,NM_175723.1;SSX5,missense_variant,p.Val175Leu,ENST00000376923,;SSX5,missense_variant,p.Val115Leu,ENST00000403001,;	A	ENST00000311798	Transcript	missense_variant	699/1384	646/690	216/229	V/L	Gtg/Ttg		1		-1	SSX5	HGNC	HGNC:11339	protein_coding	YES	CCDS14288.1	ENSP00000312415	O60225		UPI000013F201	NM_021015.3	deleterious(0.01)		8/9		hmmpanther:PTHR14112:SF9,hmmpanther:PTHR14112,Pfam_domain:PF09514																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	3	48187675	48187675	C	A	1	0	0	0	0	1	0	0	0	15586	507	18	2		2	SSX5	23	48187675	Missense_Mutation	SNP	C	11LU022_TP	6713663	48187675	107853220	1034	1706											
SLC38A5	0	.	GRCh38	chrX	48461728	48461728	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccactcaccggcagagctCcgtatagatgggcagcacct	9	6	11	15	2	1	2	1	0	0	2	2	2	2	2	4	2	2	5	4	2	2	2	novel		11LU022_TP	11LU022_NB	C	C																c.841G>T	p.Glu281Ter	p.E281*	ENST00000595796	11/16	55	30	25	36	36	0	strelka-mutect	SLC38A5,stop_gained,p.Glu281Ter,ENST00000595796,;SLC38A5,stop_gained,p.Glu230Ter,ENST00000619100,;SLC38A5,stop_gained,p.Glu147Ter,ENST00000622196,;SLC38A5,stop_gained,p.Glu281Ter,ENST00000620913,NM_033518.3;SLC38A5,downstream_gene_variant,,ENST00000440085,;SLC38A5,downstream_gene_variant,,ENST00000441948,;SLC38A5,downstream_gene_variant,,ENST00000413668,;SLC38A5,downstream_gene_variant,,ENST00000416711,;SLC38A5,downstream_gene_variant,,ENST00000429543,;SLC38A5,downstream_gene_variant,,ENST00000488083,;SLC38A5,intron_variant,,ENST00000497336,;SLC38A5,3_prime_UTR_variant,,ENST00000494034,;SLC38A5,upstream_gene_variant,,ENST00000480105,;SLC38A5,upstream_gene_variant,,ENST00000615300,;	A	ENST00000595796	Transcript	stop_gained	1685/2659	841/1419	281/472	E/*	Gag/Tag		1		-1	SLC38A5	HGNC	HGNC:18070	protein_coding	YES	CCDS14293.1	ENSP00000471683	Q8WUX1	A0A024QYY0	UPI000004F5E1				11/16		Transmembrane_helices:TMhelix,hmmpanther:PTHR22950:SF74,hmmpanther:PTHR22950,Pfam_domain:PF01490																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	3	48461728	48461728	C	A	1	0	0	0	0	0	1	0	0	14885	864	30	2		2	SLC38A5	23	48461728	Nonsense_Mutation	SNP	C	11LU022_TP	274053	48461728	107579167	1035	1707											
FTSJ1	0	.	GRCh38	chrX	48481306	48481306	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctctgaacattgctacAcatgtcctgaagccaggggg	10	8	12	11	0	1	2	0	2	1	0	2	2	2	2	2	3	4	2	2	3	3	2	novel		11LU022_TP	11LU022_NB	A	A																c.432A>G	p.=	p.T144T	ENST00000348411	7/13	312	182	130	404	404	0	strelka-varscan-mutect	FTSJ1,synonymous_variant,p.=,ENST00000019019,NM_177439.2;FTSJ1,synonymous_variant,p.=,ENST00000348411,NM_012280.3;FTSJ1,synonymous_variant,p.=,ENST00000396894,NM_001282157.1;FTSJ1,non_coding_transcript_exon_variant,,ENST00000496365,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000490202,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000466371,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000473235,;FTSJ1,intron_variant,,ENST00000492562,;FTSJ1,downstream_gene_variant,,ENST00000487353,;FTSJ1,upstream_gene_variant,,ENST00000467954,;FTSJ1,upstream_gene_variant,,ENST00000489599,;FTSJ1,upstream_gene_variant,,ENST00000475806,;FTSJ1,downstream_gene_variant,,ENST00000485486,;	G	ENST00000348411	Transcript	synonymous_variant	755/1892	432/990	144/329	T	acA/acG		1		1	FTSJ1	HGNC	HGNC:13254	protein_coding	YES	CCDS14294.1	ENSP00000326948	Q9UET6	A0A024QYX5	UPI0000001C19	NM_012280.3			7/13		Gene3D:3.40.50.150,HAMAP:MF_01547,HAMAP:MF_03162,Pfam_domain:PF01728,hmmpanther:PTHR10920,hmmpanther:PTHR10920:SF12,Superfamily_domains:SSF53335																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	3	48481306	48481306	A	G	1	0	0	0	0	0	0	0	1	5961	146	6	5		5	FTSJ1	23	48481306	Silent	SNP	A	11LU022_TP	19578	48481306	107559589	1036	1708											
SYP	0	.	GRCh38	chrX	49191630	49191630	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccgtagcctgcatcgccgTaggcgtccccgggtgccggt	3	7	15	16	6	0	0	0	0	0	0	2	0	1	0	6	3	3	3	6	3	2	2	novel		11LU022_TP	11LU022_NB	T	T																c.749A>T	p.Tyr250Phe	p.Y250F	ENST00000263233	6/7	100	47	53	106	106	0	strelka-varscan-mutect	SYP,missense_variant,p.Tyr250Phe,ENST00000263233,NM_003179.2;SYP,missense_variant,p.Tyr250Phe,ENST00000479808,;SYP,missense_variant,p.Tyr140Phe,ENST00000472598,;SYP,3_prime_UTR_variant,,ENST00000376303,;SYP,downstream_gene_variant,,ENST00000469389,;SYP,downstream_gene_variant,,ENST00000466635,;	A	ENST00000263233	Transcript	missense_variant	822/2498	749/942	250/313	Y/F	tAc/tTc		1		-1	SYP	HGNC	HGNC:11506	protein_coding	YES	CCDS14321.1	ENSP00000263233	P08247		UPI0000117AEC	NM_003179.2	tolerated(0.21)		6/7		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	49191630	49191630	T	A	1	0	0	0	0	1	0	0	0	15855	1638	57	4		4	SYP	23	49191630	Missense_Mutation	SNP	T	11LU022_TP	710324	49191630	106849265	1037	1709											
PHF8	0	.	GRCh38	chrX	53985064	53985064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaggactgttagacaCtgtgcccagcccactgctgg	9	7	13	12	0	0	1	0	0	0	1	0	3	0	3	2	3	4	3	2	3	2	1	novel		11LU022_TP	11LU022_NB	C	C																c.2401G>A	p.Val801Met	p.V801M	ENST00000357988	18/22	132	78	54	120	120	0	strelka-varscan-mutect	PHF8,missense_variant,p.Val765Met,ENST00000338154,NM_015107.2;PHF8,missense_variant,p.Val801Met,ENST00000357988,NM_001184896.1;PHF8,missense_variant,p.Val664Met,ENST00000338946,NM_001184897.1;PHF8,missense_variant,p.Val669Met,ENST00000396282,;PHF8,missense_variant,p.Val748Met,ENST00000322659,NM_001184898.1;PHF8,missense_variant,p.Val529Met,ENST00000443302,;PHF8,downstream_gene_variant,,ENST00000494928,;	T	ENST00000357988	Transcript	missense_variant	2760/6024	2401/3183	801/1060	V/M	Gtg/Atg		1		-1	PHF8	HGNC	HGNC:20672	protein_coding	YES	CCDS55420.1	ENSP00000350676	Q9UPP1		UPI00001C2071	NM_001184896.1	tolerated(0.12)		18/22		hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF11,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	53985064	53985064	C	T	1	0	0	0	0	1	0	0	0	11927	565	20	3		3	PHF8	23	53985064	Missense_Mutation	SNP	C	11LU022_TP	4793434	53985064	102055831	1038	1710											
ITIH6	0	.	GRCh38	chrX	54751272	54751272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctgatggtgatagtatagGcccggggtttgtctgtagtg	6	13	17	5	1	1	2	0	2	1	0	1	2	1	2	1	5	0	4	1	5	4	5	novel		11LU022_TP	11LU022_NB	G	G																c.3461C>T	p.Ala1154Val	p.A1154V	ENST00000218436	12/13	141	89	52	164	164	0	strelka-varscan-mutect	ITIH6,missense_variant,p.Ala1154Val,ENST00000218436,NM_198510.2;	A	ENST00000218436	Transcript	missense_variant	3491/4968	3461/3942	1154/1313	A/V	gCc/gTc		1		-1	ITIH6	HGNC	HGNC:28907	protein_coding	YES	CCDS14361.1	ENSP00000218436	Q6UXX5		UPI00000540C8	NM_198510.2	tolerated(0.09)		12/13		Pfam_domain:PF06668,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	54751272	54751272	G	A	1	0	0	0	0	1	0	0	0	7814	1203	42	3		3	ITIH6	23	54751272	Missense_Mutation	SNP	G	11LU022_TP	766208	54751272	101289623	1039	1711											
ZXDB	0	.	GRCh38	chrX	57592500	57592500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgctgcctgtccgcggttcCcactccggccccgatctccg	2	8	10	21	6	1	0	0	0	1	0	5	1	4	0	8	2	1	2	8	2	0	1	novel		11LU022_TP	11LU022_NB	C	C																c.452C>T	p.Pro151Leu	p.P151L	ENST00000374888	1/1	116	106	10	120	120	0	varscan-mutect	ZXDB,missense_variant,p.Pro151Leu,ENST00000374888,NM_007157.3;	T	ENST00000374888	Transcript	missense_variant	849/5894	452/2412	151/803	P/L	cCc/cTc		1		1	ZXDB	HGNC	HGNC:13199	protein_coding	YES	CCDS35313.1	ENSP00000364023	P98169		UPI000013C495	NM_007157.3	tolerated_low_confidence(0.06)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF85																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	3	57592500	57592500	C	T	1	0	0	0	0	1	0	0	0	18854	623	22	3		3	ZXDB	23	57592500	Missense_Mutation	SNP	C	11LU022_TP	2841228	57592500	98448395	1040	1712											
STARD8	0	.	GRCh38	chrX	68718070	68718070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagagtgggggcagctatGctcacctagacgacatcctc	10	7	13	11	1	1	2	1	0	0	2	3	4	2	2	2	3	2	3	2	3	2	2	novel		11LU022_TP	11LU022_NB	G	G																c.1156G>T	p.Ala386Ser	p.A386S	ENST00000374599	6/15	122	53	69	129	127	2	strelka-varscan-mutect	STARD8,missense_variant,p.Ala306Ser,ENST00000252336,NM_014725.4;STARD8,missense_variant,p.Ala386Ser,ENST00000374599,NM_001142503.2;STARD8,missense_variant,p.Ala306Ser,ENST00000374597,NM_001142504.2;STARD8,3_prime_UTR_variant,,ENST00000523864,;	T	ENST00000374599	Transcript	missense_variant	1271/4841	1156/3312	386/1103	A/S	Gct/Tct		1		1	STARD8	HGNC	HGNC:19161	protein_coding	YES	CCDS48134.1	ENSP00000363727	Q92502		UPI00002122B9	NM_001142503.2	tolerated(0.1)		6/15		hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF3																	MODERATE	1	SNV	1			1										PASS		rs1314566732	.												T	3	4	3	68718070	68718070	G	T	1	0	0	0	0	1	0	0	0	15638	1319	46	2		2	STARD8	23	68718070	Missense_Mutation	SNP	G	11LU022_TP	11125570	68718070	87322825	1041	1713											
DGAT2L6	0	.	GRCh38	chrX	70204405	70204406	+	Frame_Shift_Ins	INS	-	-	A																															gttgttccaaaaaaccttccINSaggacacattcaaaaaaatc																								novel		11LU022_TP	11LU022_NB	-	-																c.749dupA	p.Asp251GlyfsTer47	p.D251Gfs*47	ENST00000333026	6/7	202	80	122	194	194	0	sindel-varindel-pindel	DGAT2L6,frameshift_variant,p.Asp251GlyfsTer47,ENST00000333026,NM_198512.2;	A	ENST00000333026	Transcript	frameshift_variant	848-849/1553	748-749/1014	250/337	Q/QX	cag/cAag		1		1	DGAT2L6	HGNC	HGNC:23250	protein_coding	YES	CCDS14397.1	ENSP00000328036	Q6ZPD8		UPI00001C10BF	NM_198512.2			6/7		Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF19																	HIGH	1	insertion	2	1		1										PASS		.	.												A	7	5	3	70204405	70204405	-	A	1	0	1	1	0	0	0	0	0	4266	595	21	0		0	DGAT2L6	23	70204405	Frame_Shift_Ins	INS	-	11LU022_TP	1486335	70204405	85836490	1042	1714											
MED12	0	.	GRCh38	chrX	71121762	71121762	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgactccctttagtgacctGcttatgtgccctcagcaccg	6	12	8	15	2	1	1	1	1	0	0	3	2	2	1	4	0	3	2	4	0	2	3	novel		11LU022_TP	11LU022_NB	G	G																c.1047G>T	p.=	p.L349L	ENST00000374080	7/45	75	62	13	83	83	0	strelka-varscan-mutect	MED12,synonymous_variant,p.=,ENST00000333646,;MED12,synonymous_variant,p.=,ENST00000374102,;MED12,synonymous_variant,p.=,ENST00000374080,NM_005120.2;MED12,downstream_gene_variant,,ENST00000429213,;MED12,upstream_gene_variant,,ENST00000462984,;MED12,upstream_gene_variant,,ENST00000471663,;	T	ENST00000374080	Transcript	synonymous_variant	1079/6795	1047/6534	349/2177	L	ctG/ctT		1		1	MED12	HGNC	HGNC:11957	protein_coding	YES	CCDS43970.1	ENSP00000363193	Q93074		UPI00004257E2	NM_005120.2			7/45		Pfam_domain:PF12145,hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF24																	LOW	1	SNV	1			1										PASS		rs990639258	.												T	2	4	3	71121762	71121762	G	T	1	0	0	0	0	0	0	0	1	9367	1306	46	2		2	MED12	23	71121762	Silent	SNP	G	11LU022_TP	917357	71121762	84919133	1043	1715											
ITGB1BP2	0	.	GRCh38	chrX	71305047	71305047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggctgacccaggatcctGggcccagctggagcaccctg	8	5	13	15	0	0	1	0	1	0	0	1	3	1	3	4	4	2	3	4	4	1	0	novel		11LU022_TP	11LU022_NB	G	G																c.899G>T	p.Trp300Leu	p.W300L	ENST00000373829	11/11	168	74	94	152	152	0	strelka-varscan-mutect	ITGB1BP2,missense_variant,p.Trp282Leu,ENST00000538820,;ITGB1BP2,missense_variant,p.Trp300Leu,ENST00000373829,NM_012278.2;NONO,downstream_gene_variant,,ENST00000535149,NM_001145410.1;NONO,downstream_gene_variant,,ENST00000276079,NM_007363.4;NONO,downstream_gene_variant,,ENST00000373841,NM_001145409.1;NONO,downstream_gene_variant,,ENST00000373856,NM_001145408.1;NONO,downstream_gene_variant,,ENST00000490044,;NONO,downstream_gene_variant,,ENST00000473525,;ITGB1BP2,downstream_gene_variant,,ENST00000465388,;NONO,downstream_gene_variant,,ENST00000474431,;ITGB1BP2,downstream_gene_variant,,ENST00000475413,;ITGB1BP2,downstream_gene_variant,,ENST00000483897,;NONO,downstream_gene_variant,,ENST00000472185,;	T	ENST00000373829	Transcript	missense_variant	972/1296	899/1044	300/347	W/L	tGg/tTg		1		1	ITGB1BP2	HGNC	HGNC:6154	protein_coding	YES	CCDS14411.1	ENSP00000362935	Q9UKP3		UPI000000103C	NM_012278.2	deleterious(0)		11/11		PROSITE_profiles:PS51203,hmmpanther:PTHR12621:SF8,hmmpanther:PTHR12621,Gene3D:2.60.40.790,Superfamily_domains:SSF49764																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	71305047	71305047	G	T	1	0	0	0	0	1	0	0	0	7799	1357	47	2		2	ITGB1BP2	23	71305047	Missense_Mutation	SNP	G	11LU022_TP	183285	71305047	84735848	1044	1716											
P2RY10	0	.	GRCh38	chrX	78961212	78961212	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagacagccaccaatggCtttccaagggatcagtgaga	12	8	11	10	0	1	2	1	2	0	2	2	5	2	3	3	2	1	1	3	2	2	2	novel		11LU022_TP	11LU022_NB	C	C																c.692C>A	p.Ala231Asp	p.A231D	ENST00000171757	4/4	146	55	91	106	106	0	strelka-varscan-mutect	P2RY10,missense_variant,p.Ala231Asp,ENST00000171757,NM_014499.2;P2RY10,missense_variant,p.Ala231Asp,ENST00000544091,NM_198333.1;P2RY10,downstream_gene_variant,,ENST00000475374,;P2RY10,downstream_gene_variant,,ENST00000461541,;	A	ENST00000171757	Transcript	missense_variant	972/1714	692/1020	231/339	A/D	gCt/gAt		1		1	P2RY10	HGNC	HGNC:19906	protein_coding	YES	CCDS14442.1	ENSP00000171757	O00398		UPI0000050471	NM_014499.2	tolerated(0.32)		4/4		PROSITE_profiles:PS50262,hmmpanther:PTHR24232:SF47,hmmpanther:PTHR24232,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	78961212	78961212	C	A	1	0	0	0	0	1	0	0	0	11420	797	28	2		2	P2RY10	23	78961212	Missense_Mutation	SNP	C	11LU022_TP	7656165	78961212	77079683	1045	1717											
KLHL4	0	.	GRCh38	chrX	87632383	87632383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaatgttttaatccagttGgcaaaatctggactgtgatg	11	14	11	5	0	1	1	0	1	1	0	2	3	2	3	1	3	0	3	1	3	4	3	novel		11LU022_TP	11LU022_NB	G	G																c.1498G>T	p.Gly500Cys	p.G500C	ENST00000373114	7/11	50	25	25	48	48	0	strelka-varscan-mutect	KLHL4,missense_variant,p.Gly500Cys,ENST00000373119,NM_019117.4;KLHL4,missense_variant,p.Gly500Cys,ENST00000373114,NM_057162.2;	T	ENST00000373114	Transcript	missense_variant	1578/2445	1498/2163	500/720	G/C	Ggc/Tgc		1		1	KLHL4	HGNC	HGNC:6355	protein_coding	YES	CCDS14456.1	ENSP00000362206	Q9C0H6		UPI000002ACC4	NM_057162.2	deleterious(0.02)		7/11		Superfamily_domains:0052715,Gene3D:1k3iA02,Pfam_domain:PF01344,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF74,SMART_domains:SM00612																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	87632383	87632383	G	T	1	0	0	0	0	1	0	0	0	8257	1348	47	2		2	KLHL4	23	87632383	Missense_Mutation	SNP	G	11LU022_TP	8671171	87632383	68408512	1046	1718											
PCDH11X	0	.	GRCh38	chrX	92618580	92618580	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcctcctctagtgcaggcTactgcacttcaccacagccc	8	9	7	17	0	2	0	1	0	1	0	4	0	4	0	4	1	4	3	4	1	2	3			11LU022_TP	11LU022_NB	T	T																c.3684T>A	p.=	p.A1228A	ENST00000373094	7/7	499	268	231	480	480	0	strelka-varscan-mutect	PCDH11X,synonymous_variant,p.=,ENST00000373094,NM_032968.4;PCDH11X,synonymous_variant,p.=,ENST00000373097,NM_032969.4;PCDH11X,synonymous_variant,p.=,ENST00000406881,NM_001168360.1;PCDH11X,synonymous_variant,p.=,ENST00000361655,NM_001168363.1;PCDH11X,synonymous_variant,p.=,ENST00000373088,NM_001168362.1;PCDH11X,3_prime_UTR_variant,,ENST00000504220,NM_001168361.1;	A	ENST00000373094	Transcript	synonymous_variant	4529/9179	3684/4044	1228/1347	A	gcT/gcA	COSM1636633	1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4			7/7													1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	3	92618580	92618580	T	A	1	0	0	0	0	0	0	0	1	11595	1509	53	4		4	PCDH11X	23	92618580	Silent	SNP	T	11LU022_TP	4986197	92618580	63422315	1047	1719											
BHLHB9	0	.	GRCh38	chrX	102749106	102749106	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actggtgttgttaggcctgtAgccaagaccagggccaaagc	10	8	13	10	0	0	1	0	0	0	1	0	1	0	1	4	3	2	3	4	3	4	3	novel		11LU022_TP	11LU022_NB	A	A																c.111A>T	p.=	p.V37V	ENST00000372735	4/4	122	57	65	98	98	0	strelka-varscan-mutect	BHLHB9,synonymous_variant,p.=,ENST00000372735,;BHLHB9,synonymous_variant,p.=,ENST00000457056,NM_001142528.1,NM_001142527.1,NM_001142525.1,NM_001142526.1,NM_001142524.1;BHLHB9,synonymous_variant,p.=,ENST00000447531,NM_001142529.1;BHLHB9,synonymous_variant,p.=,ENST00000361229,NM_030639.2;BHLHB9,synonymous_variant,p.=,ENST00000448867,NM_001142530.1;BHLHB9,downstream_gene_variant,,ENST00000483294,;BHLHB9,downstream_gene_variant,,ENST00000486988,;	T	ENST00000372735	Transcript	synonymous_variant	696/5130	111/1644	37/547	V	gtA/gtT		1		1	BHLHB9	HGNC	HGNC:29353	protein_coding	YES	CCDS14502.1	ENSP00000361820	Q6PI77		UPI00001C1D50				4/4		hmmpanther:PTHR15712:SF18,hmmpanther:PTHR15712																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	3	102749106	102749106	A	T	1	0	0	0	0	0	0	0	1	1568	407	15	4		4	BHLHB9	23	102749106	Silent	SNP	A	11LU022_TP	10130526	102749106	53291789	1048	1720											
BEX1	0	.	GRCh38	chrX	103062942	103062942	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatggtcatggtgagggggGtcagtgctgactgcccgcag	6	9	18	8	1	2	3	2	3	0	0	2	3	2	3	1	5	2	2	1	5	0	0	rs1045136		11LU022_TP	11LU022_NB	G	G																c.333C>T	p.=	p.D111D	ENST00000372728	3/3	90	85	5	82	82	0	varscan-mutect	BEX1,synonymous_variant,p.=,ENST00000372728,NM_018476.3;	A	ENST00000372728	Transcript	synonymous_variant	573/864	333/378	111/125	D	gaC/gaT	rs1045136,COSM5611590,COSM5611591	1		-1	BEX1	HGNC	HGNC:1036	protein_coding	YES	CCDS35354.1	ENSP00000361813	Q9HBH7		UPI0000073F72	NM_018476.3			3/3		Pfam_domain:PF04538,PIRSF_domain:PIRSF008633,hmmpanther:PTHR19430											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs1045136	.												A	2	1	3	103062942	103062942	G	A	1	0	0	0	0	0	0	0	1	1558	1252	44	3		3	BEX1	23	103062942	Silent	SNP	G	11LU022_TP	313836	103062942	52977953	1049	1721											
NRK	0	.	GRCh38	chrX	105898624	105898624	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgagcagaactaatggAagaaggaatagtttcattgg	15	9	13	4	0	1	3	1	1	0	2	1	5	1	5	0	4	2	2	0	4	6	4	novel		11LU022_TP	11LU022_NB	A	A																c.621A>G	p.=	p.G207G	ENST00000243300	8/29	93	76	17	76	76	0	strelka-varscan-mutect	NRK,synonymous_variant,p.=,ENST00000243300,NM_198465.3;NRK,downstream_gene_variant,,ENST00000536164,;NRK,synonymous_variant,p.=,ENST00000428173,;	G	ENST00000243300	Transcript	synonymous_variant	924/8062	621/4749	207/1582	G	ggA/ggG		1		1	NRK	HGNC	HGNC:25391	protein_coding	YES	CCDS65305.1	ENSP00000434830	Q7Z2Y5		UPI0000418886	NM_198465.3			8/29		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF417,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	3	105898624	105898624	A	G	1	0	0	0	0	0	0	0	1	10713	233	9	5		5	NRK	23	105898624	Silent	SNP	A	11LU022_TP	2835682	105898624	50142271	1050	1722											
ATG4A	0	.	GRCh38	chrX	108150189	108150189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaccctcatacaacccaGacctttgttgacactgaaga	12	10	7	12	0	1	4	1	2	0	2	1	5	1	5	3	1	2	1	3	1	3	4	novel		11LU022_TP	11LU022_NB	G	G																c.852G>T	p.Gln284His	p.Q284H	ENST00000372232	10/13	90	78	12	83	83	0	strelka-varscan-mutect	ATG4A,missense_variant,p.Gln284His,ENST00000372232,NM_001321288.1,NM_052936.3;ATG4A,missense_variant,p.Gln222His,ENST00000345734,NM_178270.2;ATG4A,missense_variant,p.Gln257His,ENST00000394892,;ATG4A,downstream_gene_variant,,ENST00000457035,;ATG4A,non_coding_transcript_exon_variant,,ENST00000489247,;ATG4A,non_coding_transcript_exon_variant,,ENST00000474825,;ATG4A,missense_variant,p.Arg207Ile,ENST00000343524,;ATG4A,3_prime_UTR_variant,,ENST00000372246,NM_178271.2,NM_001321290.1;	T	ENST00000372232	Transcript	missense_variant	1011/2315	852/1197	284/398	Q/H	caG/caT		1		1	ATG4A	HGNC	HGNC:16489	protein_coding	YES	CCDS14538.1	ENSP00000361306	Q8WYN0		UPI000000DCAF	NM_001321288.1,NM_052936.3	deleterious(0)		10/13		Pfam_domain:PF03416,hmmpanther:PTHR22624,hmmpanther:PTHR22624:SF35,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	108150189	108150189	G	T	1	0	0	0	0	1	0	0	0	1248	933	33	2		2	ATG4A	23	108150189	Missense_Mutation	SNP	G	11LU022_TP	2251565	108150189	47890706	1051	1723											
ALG13	0	.	GRCh38	chrX	111727657	111727657	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agatgagttgtgtgaataagGagtcccagtatggatttacc	12	12	12	5	0	0	3	0	2	0	1	1	5	1	5	2	2	1	2	2	2	4	5	rs769342903		11LU022_TP	11LU022_NB	G	G																c.2134G>C	p.Glu712Gln	p.E712Q	ENST00000394780	18/27	55	28	27	56	56	0	strelka-varscan-mutect	ALG13,missense_variant,p.Glu634Gln,ENST00000610588,NM_001257231.1;ALG13,missense_variant,p.Glu712Gln,ENST00000394780,NM_001099922.2;ALG13,missense_variant,p.Glu608Gln,ENST00000251943,NM_001324292.1,NM_001257237.1;ALG13,missense_variant,p.Glu608Gln,ENST00000621367,NM_001257230.1,NM_001257234.1;ALG13,missense_variant,p.Glu608Gln,ENST00000436609,;ALG13,missense_variant,p.Glu308Gln,ENST00000623622,;ALG13,non_coding_transcript_exon_variant,,ENST00000486578,;ALG13,non_coding_transcript_exon_variant,,ENST00000460092,;ALG13,downstream_gene_variant,,ENST00000490774,;ALG13,upstream_gene_variant,,ENST00000635824,;ALG13,3_prime_UTR_variant,,ENST00000624161,;ALG13,3_prime_UTR_variant,,ENST00000623144,;ALG13,3_prime_UTR_variant,,ENST00000623148,;ALG13,3_prime_UTR_variant,,ENST00000636363,;ALG13,3_prime_UTR_variant,,ENST00000495283,;ALG13,3_prime_UTR_variant,,ENST00000470971,;	C	ENST00000394780	Transcript	missense_variant	2203/4133	2134/3414	712/1137	E/Q	Gag/Cag	rs769342903	1		1	ALG13	HGNC	HGNC:30881	protein_coding	YES	CCDS55477.1	ENSP00000378260	Q9NP73		UPI0000E5AFF9	NM_001099922.2	deleterious(0.02)		18/27		hmmpanther:PTHR12867,hmmpanther:PTHR12867:SF5																	MODERATE	1	SNV	2			1										PASS		rs769342903	.												C	3	2	3	111727657	111727657	G	C	1	0	0	0	0	1	0	0	0	615	1175	41	4		4	ALG13	23	111727657	Missense_Mutation	SNP	G	11LU022_TP	3577468	111727657	44313238	1052	1724											
DCAF12L1	0	.	GRCh38	chrX	126551325	126551325	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgggtgtagagcgcattGggaaacacttccatgccacc	10	8	12	11	1	0	1	0	0	0	1	1	2	1	2	3	2	3	2	3	2	2	3	novel		11LU022_TP	11LU022_NB	G	G																c.1284C>A	p.=	p.P428P	ENST00000371126	1/2	118	72	46	144	144	0	strelka-varscan-mutect	DCAF12L1,synonymous_variant,p.=,ENST00000371126,NM_178470.4;	T	ENST00000371126	Transcript	synonymous_variant	1527/3382	1284/1392	428/463	P	ccC/ccA		1		-1	DCAF12L1	HGNC	HGNC:29395	protein_coding	YES	CCDS14610.1	ENSP00000360167	Q5VU92		UPI0000160112	NM_178470.4			1/2		hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF9																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	3	126551325	126551325	G	T	1	0	0	0	0	0	0	0	1	4065	1335	47	2		2	DCAF12L1	23	126551325	Silent	SNP	G	11LU022_TP	14823668	126551325	29489570	1053	1725											
ARHGAP36	0	.	GRCh38	chrX	131081871	131081871	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaagagactgcttaccAcgaactcgtggccagacatt	11	8	10	12	2	0	2	0	0	0	2	1	4	0	2	2	1	4	3	2	1	3	2	novel		11LU022_TP	11LU022_NB	A	A																c.206A>C	p.His69Pro	p.H69P	ENST00000276211	2/12	143	126	17	119	119	0	strelka-varscan-mutect	ARHGAP36,missense_variant,p.His69Pro,ENST00000276211,NM_144967.3;ARHGAP36,missense_variant,p.His57Pro,ENST00000370922,NM_001282607.1;ARHGAP36,missense_variant,p.His38Pro,ENST00000412432,;ARHGAP36,missense_variant,p.His21Pro,ENST00000423277,;ARHGAP36,upstream_gene_variant,,ENST00000370921,;	C	ENST00000276211	Transcript	missense_variant	551/3083	206/1644	69/547	H/P	cAc/cCc		1		1	ARHGAP36	HGNC	HGNC:26388	protein_coding	YES	CCDS14628.1	ENSP00000276211	Q6ZRI8		UPI0000041347	NM_144967.3	tolerated(0.07)		2/12		hmmpanther:PTHR12635																	MODERATE	1	SNV	2			1										PASS		rs1438016907	.												C	3	2	3	131081871	131081871	A	C	1	0	0	0	0	1	0	0	0	1009	159	6	5		5	ARHGAP36	23	131081871	Missense_Mutation	SNP	A	11LU022_TP	4530546	131081871	24959024	1054	1726											
MAP7D3	0	.	GRCh38	chrX	136231684	136231684	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcacactctccttgggggCtacttctgcgctccccttgg	3	14	9	15	1	3	0	1	0	2	0	5	0	4	0	3	3	2	2	3	3	1	5	novel		11LU022_TP	11LU022_NB	C	C																c.1273G>T	p.Ala425Ser	p.A425S	ENST00000316077	8/19	138	47	91	115	115	0	strelka-varscan-mutect	MAP7D3,missense_variant,p.Ala425Ser,ENST00000316077,NM_024597.3;MAP7D3,missense_variant,p.Ala407Ser,ENST00000370663,NM_001173516.1;MAP7D3,missense_variant,p.Ala390Ser,ENST00000370661,NM_001173517.1;MAP7D3,missense_variant,p.Ala384Ser,ENST00000370660,;MAP7D3,upstream_gene_variant,,ENST00000495432,;MAP7D3,upstream_gene_variant,,ENST00000477124,;MAP7D3,upstream_gene_variant,,ENST00000489788,;	A	ENST00000316077	Transcript	missense_variant	1494/4567	1273/2631	425/876	A/S	Gcc/Tcc		1		-1	MAP7D3	HGNC	HGNC:25742	protein_coding	YES	CCDS44004.1	ENSP00000318086	Q8IWC1		UPI00001C207C	NM_024597.3	tolerated(1)		8/19		hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	136231684	136231684	C	A	1	0	0	0	0	1	0	0	0	9193	797	28	2		2	MAP7D3	23	136231684	Missense_Mutation	SNP	C	11LU022_TP	5149813	136231684	19809211	1055	1727											
MAP7D3	0	.	GRCh38	chrX	136246134	136246134	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatgtcatttttaagcaTggatccatcgattactaaaa	13	17	5	6	1	1	0	1	0	0	0	3	2	2	1	1	1	2	1	1	1	5	7	rs754689236		11LU022_TP	11LU022_NB	T	T																c.184A>G	p.Met62Val	p.M62V	ENST00000316077	3/19	97	60	37	94	94	0	strelka-varscan-mutect	MAP7D3,missense_variant,p.Met62Val,ENST00000316077,NM_024597.3;MAP7D3,missense_variant,p.Met44Val,ENST00000370663,NM_001173516.1;MAP7D3,missense_variant,p.Met62Val,ENST00000370661,NM_001173517.1;MAP7D3,missense_variant,p.Met62Val,ENST00000370660,;	C	ENST00000316077	Transcript	missense_variant	405/4567	184/2631	62/876	M/V	Atg/Gtg	rs754689236	1		-1	MAP7D3	HGNC	HGNC:25742	protein_coding	YES	CCDS44004.1	ENSP00000318086	Q8IWC1		UPI00001C207C	NM_024597.3	tolerated(1)		3/19		hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF5																	MODERATE	1	SNV	1			1										PASS		rs754689236	.												C	3	2	3	136246134	136246134	T	C	1	0	0	0	0	1	0	0	0	9193	1464	51	5		5	MAP7D3	23	136246134	Missense_Mutation	SNP	T	11LU022_TP	14450	136246134	19794761	1056	1728											
ADGRG4	0	.	GRCh38	chrX	136348153	136348153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggttttacagttctctccGacaggatcactacagccttt	9	13	7	12	2	2	0	1	0	1	0	4	2	3	1	2	2	3	2	2	2	2	5	rs747707709		11LU022_TP	11LU022_NB	G	G																c.4447G>T	p.Asp1483Tyr	p.D1483Y	ENST00000394143	6/26	132	111	21	80	80	0	strelka-varscan-mutect	ADGRG4,missense_variant,p.Asp1483Tyr,ENST00000394143,NM_153834.3;ADGRG4,missense_variant,p.Asp1483Tyr,ENST00000370652,;ADGRG4,missense_variant,p.Asp1278Tyr,ENST00000394141,;	T	ENST00000394143	Transcript	missense_variant	4738/9931	4447/9243	1483/3080	D/Y	Gac/Tac	rs747707709,COSM3231487,COSM611198	1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3	deleterious(0)		6/26													0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs747707709	.												T	3	4	3	136348153	136348153	G	T	1	0	0	0	0	1	0	0	0	371	1058	37	1		1	ADGRG4	23	136348153	Missense_Mutation	SNP	G	11LU022_TP	102019	136348153	19692742	1057	1729											
F9	0	.	GRCh38	chrX	139561671	139561671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaacccttagtgctaaacaGctacgttacacctatttgca	12	11	6	12	2	0	0	0	0	0	0	0	1	0	0	2	0	7	4	2	0	7	6	novel		11LU022_TP	11LU022_NB	G	G																c.986G>C	p.Ser329Thr	p.S329T	ENST00000218099	8/8	86	48	38	79	79	0	strelka-varscan-mutect	F9,missense_variant,p.Ser329Thr,ENST00000218099,NM_000133.3;F9,missense_variant,p.Ser291Thr,ENST00000394090,;	C	ENST00000218099	Transcript	missense_variant	993/2780	986/1386	329/461	S/T	aGc/aCc		1		1	F9	HGNC	HGNC:3551	protein_coding	YES	CCDS14666.1	ENSP00000218099	P00740		UPI000002BA13	NM_000133.3	tolerated(0.2)		8/8		Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001143,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF135,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	3	139561671	139561671	G	C	1	0	0	0	0	1	0	0	0	5220	971	34	4		4	F9	23	139561671	Missense_Mutation	SNP	G	11LU022_TP	3213518	139561671	16479224	1058	1730											
SPANXN2	0	.	GRCh38	chrX	143712337	143712337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtcctcctcctcttggaCtggattgatggagttctctc	4	16	9	12	1	2	1	0	1	2	0	8	4	5	4	3	3	0	1	3	3	0	4	rs782507654		11LU022_TP	11LU022_NB	C	C																c.241G>T	p.Val81Phe	p.V81F	ENST00000598475	2/2	452	384	68	462	462	0	strelka-varscan-mutect	SPANXN2,missense_variant,p.Val81Phe,ENST00000598475,NM_001009615.2;	A	ENST00000598475	Transcript	missense_variant	996/1378	241/543	81/180	V/F	Gtc/Ttc	rs782507654,COSM2150022,COSM2150023	1		-1	SPANXN2	HGNC	HGNC:33175	protein_coding	YES	CCDS35419.1	ENSP00000470584	Q5MJ10		UPI000049D98C	NM_001009615.2	deleterious(0.02)		2/2		Pfam_domain:PF07458,hmmpanther:PTHR23425,hmmpanther:PTHR23425:SF5											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs782507654	.												A	3	1	3	143712337	143712337	C	A	1	0	0	0	0	1	0	0	0	15322	565	20	2		2	SPANXN2	23	143712337	Missense_Mutation	SNP	C	11LU022_TP	4150666	143712337	12328558	1059	1731											
SLITRK2	0	.	GRCh38	chrX	145824592	145824592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagttcagctatagcaacCtggaggagaaaaaagaagag	19	5	12	5	0	1	4	1	0	0	4	1	6	1	5	1	2	3	3	1	2	8	3	novel		11LU022_TP	11LU022_NB	C	C																c.2167C>A	p.Leu723Met	p.L723M	ENST00000370490	1/1	98	80	18	94	93	1	strelka-varscan	SLITRK2,missense_variant,p.Leu723Met,ENST00000370490,NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2;SLITRK2,missense_variant,p.Leu723Met,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,NM_004709.2;	A	ENST00000370490	Transcript	missense_variant	6422/7672	2167/2538	723/845	L/M	Ctg/Atg		1		1	SLITRK2	HGNC	HGNC:13449	protein_coding	YES	CCDS14680.1	ENSP00000359521	Q9H156		UPI000004E64B	NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2	tolerated(0.19)		1/1		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF36																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	3	145824592	145824592	C	A	1	0	0	0	0	1	0	0	0	15034	680	24	2		2	SLITRK2	23	145824592	Missense_Mutation	SNP	C	11LU022_TP	2112255	145824592	10216303	1060	1732											
GABRE	0	.	GRCh38	chrX	151955372	151955372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacccagctcatacatggCggagtttaggagaagcatgg	12	8	12	9	1	1	1	1	0	0	1	1	3	1	2	1	4	4	3	1	4	4	4	novel		11LU022_TP	11LU022_NB	C	C																c.1133G>T	p.Arg378Leu	p.R378L	ENST00000370328	8/9	106	60	46	143	143	0	strelka-varscan-mutect	GABRE,missense_variant,p.Arg378Leu,ENST00000370328,NM_004961.3;GABRE,downstream_gene_variant,,ENST00000385020,;GABRE,downstream_gene_variant,,ENST00000384889,;GABRE,non_coding_transcript_exon_variant,,ENST00000483564,;GABRE,downstream_gene_variant,,ENST00000462018,;GABRE,non_coding_transcript_exon_variant,,ENST00000486255,;GABRE,non_coding_transcript_exon_variant,,ENST00000489333,;GABRE,intron_variant,,ENST00000495862,;GABRE,downstream_gene_variant,,ENST00000441219,;GABRE,downstream_gene_variant,,ENST00000476016,;	A	ENST00000370328	Transcript	missense_variant	1187/3152	1133/1521	378/506	R/L	cGc/cTc		1		-1	GABRE	HGNC	HGNC:4085	protein_coding	YES	CCDS14703.1	ENSP00000359353	P78334		UPI00000307E6	NM_004961.3	deleterious(0.04)		8/9		hmmpanther:PTHR18945:SF397,hmmpanther:PTHR18945,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR01723																	MODERATE	1	SNV	1			1										PASS		rs1337854518	.												A	3	1	3	151955372	151955372	C	A	1	0	0	0	0	1	0	0	0	6041	782	27	1		1	GABRE	23	151955372	Missense_Mutation	SNP	C	11LU022_TP	6130780	151955372	4085523	1061	1733											
ZNF275	0	.	GRCh38	chrX	153347413	153347413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcgcctgcaaggcgtgcaGcagggatttcctggatcgcc	6	10	13	12	3	0	0	0	0	0	0	3	2	1	2	3	3	3	3	3	3	1	2	novel		11LU022_TP	11LU022_NB	G	G																c.728G>T	p.Ser243Ile	p.S243I	ENST00000370251	4/5	85	45	40	85	85	0	strelka-mutect	ZNF275,missense_variant,p.Ser243Ile,ENST00000370251,NM_001080485.3;ZNF275,missense_variant,p.Ser190Ile,ENST00000370249,;ZNF275,upstream_gene_variant,,ENST00000438239,;	T	ENST00000370251	Transcript	missense_variant	905/6320	728/990	243/329	S/I	aGc/aTc		1		1	ZNF275	HGNC	HGNC:13069	protein_coding	YES		ENSP00000359271		A6NFS0	UPI000059DBB5	NM_001080485.3	deleterious(0.01)		4/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF340,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	3	153347413	153347413	G	T	1	0	0	0	0	1	0	0	0	18386	971	34	2		2	ZNF275	23	153347413	Missense_Mutation	SNP	G	11LU022_TP	1392041	153347413	2693482	1062	1734											
ATP2B3	0	.	GRCh38	chrX	153558219	153558219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggccgtaacgtctatgaCagcatctccaagttcctgca	9	10	10	12	2	2	1	0	1	2	0	4	1	3	1	3	2	3	4	3	2	3	3	novel		11LU022_TP	11LU022_NB	C	C																c.2541C>A	p.Asp847Glu	p.D847E	ENST00000263519	15/20	122	103	19	127	127	0	strelka-varscan-mutect	ATP2B3,missense_variant,p.Asp833Glu,ENST00000370186,;ATP2B3,missense_variant,p.Asp847Glu,ENST00000263519,NM_001001344.2;ATP2B3,missense_variant,p.Asp847Glu,ENST00000349466,;ATP2B3,missense_variant,p.Asp847Glu,ENST00000359149,NM_021949.3;ATP2B3,missense_variant,p.Asp833Glu,ENST00000393842,;ATP2B3,non_coding_transcript_exon_variant,,ENST00000460549,;	A	ENST00000263519	Transcript	missense_variant	2667/6420	2541/3663	847/1220	D/E	gaC/gaA		1		1	ATP2B3	HGNC	HGNC:816	protein_coding	YES	CCDS35440.1	ENSP00000263519	Q16720		UPI00001AE881	NM_001001344.2	deleterious(0)		15/20		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF284,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01517,TIGRFAM_domain:TIGR01494,Superfamily_domains:0049473,Superfamily_domains:SSF56784																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	3	153558219	153558219	C	A	1	0	0	0	0	1	0	0	0	1294	477	17	2		2	ATP2B3	23	153558219	Missense_Mutation	SNP	C	11LU022_TP	210806	153558219	2482676	1063	1735											
FAM50A	0	.	GRCh38	chrX	154444287	154444287	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccgcgccatgcacctgAtgaagaagcgggagaagcag	11	3	15	12	4	0	4	0	2	0	2	0	5	0	4	4	2	3	2	4	2	3	0	novel		11LU022_TP	11LU022_NB	A	A																c.52A>T	p.Met18Leu	p.M18L	ENST00000393600	1/13	231	196	35	185	185	0	strelka-varscan-mutect	FAM50A,missense_variant,p.Met18Leu,ENST00000393600,NM_004699.3;GDI1,downstream_gene_variant,,ENST00000447750,NM_001493.2;FAM50A,upstream_gene_variant,,ENST00000158526,;GDI1,downstream_gene_variant,,ENST00000630693,;GDI1,downstream_gene_variant,,ENST00000465640,;GDI1,downstream_gene_variant,,ENST00000471972,;FAM50A,non_coding_transcript_exon_variant,,ENST00000464419,;FAM50A,non_coding_transcript_exon_variant,,ENST00000481619,;GDI1,downstream_gene_variant,,ENST00000491154,;GDI1,downstream_gene_variant,,ENST00000468483,;GDI1,downstream_gene_variant,,ENST00000476540,;GDI1,downstream_gene_variant,,ENST00000481304,;GDI1,downstream_gene_variant,,ENST00000489589,;GDI1,downstream_gene_variant,,ENST00000434049,;FAM50A,upstream_gene_variant,,ENST00000478509,;GDI1,downstream_gene_variant,,ENST00000445564,;GDI1,downstream_gene_variant,,ENST00000460984,;FAM50A,upstream_gene_variant,,ENST00000490480,;	T	ENST00000393600	Transcript	missense_variant	162/1352	52/1020	18/339	M/L	Atg/Ttg		1		1	FAM50A	HGNC	HGNC:18786	protein_coding	YES	CCDS14751.1	ENSP00000377225	Q14320		UPI0000138FCD	NM_004699.3	tolerated(0.65)		1/13		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12722,hmmpanther:PTHR12722:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	3	154444287	154444287	A	T	1	0	0	0	0	1	0	0	0	5453	333	12	4		4	FAM50A	23	154444287	Missense_Mutation	SNP	A	11LU022_TP	886068	154444287	1596608	1064	1736											
GPN2	0	.	GRCh38	chr1	26890067	26890067	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccgatcaccgcctgcccGaaggccgtggtcggagcggc	5	4	17	15	6	1	0	1	0	0	0	2	3	1	1	5	5	2	0	5	5	1	0			11LU035_TP	11LU035_NB	G	G																c.30C>T	p.=	p.F10F	ENST00000374135	1/5	28	25	3	65	65	0	strelka-mutect	GPN2,synonymous_variant,p.=,ENST00000374135,NM_018066.3;GPN2,synonymous_variant,p.=,ENST00000431781,;GPATCH3,downstream_gene_variant,,ENST00000361720,NM_022078.2;GPN2,upstream_gene_variant,,ENST00000374133,;GPATCH3,downstream_gene_variant,,ENST00000445019,;GPATCH3,downstream_gene_variant,,ENST00000450844,;GPN2,upstream_gene_variant,,ENST00000461282,;GPN2,upstream_gene_variant,,ENST00000477418,;	A	ENST00000374135	Transcript	synonymous_variant	231/4678	30/933	10/310	F	ttC/ttT	COSM3804827	1		-1	GPN2	HGNC	HGNC:25513	protein_coding	YES	CCDS289.1	ENSP00000363250	Q9H9Y4		UPI0000071F43	NM_018066.3			1/5		hmmpanther:PTHR21231:SF3,hmmpanther:PTHR21231											1						LOW	1	SNV	1		1	1										PASS		rs1225759168	.												A	2	1	4	26890067	26890067	G	A	1	0	0	0	0	0	0	0	1	6520	1049	37	1		1	GPN2	1	26890067	Silent	SNP	G	11LU035_TP		26890067	222066355	1	1737											
KIAA0319L	0	.	GRCh38	chr1	35434933	35434933	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctcctggccttcagaggGgtctgcccgttgggtacaga	5	9	16	11	1	2	2	1	0	1	2	3	2	3	2	3	5	2	3	3	5	1	3			11LU035_TP	11LU035_NB	G	G																c.3111C>T	p.=	p.T1037T	ENST00000325722	21/21	133	108	25	220	220	0	strelka-varscan-mutect	KIAA0319L,synonymous_variant,p.=,ENST00000325722,NM_024874.4;KIAA0319L,synonymous_variant,p.=,ENST00000373266,;KIAA0319L,downstream_gene_variant,,ENST00000426982,;KIAA0319L,downstream_gene_variant,,ENST00000485551,;KIAA0319L,downstream_gene_variant,,ENST00000461312,;	A	ENST00000325722	Transcript	synonymous_variant	3346/4789	3111/3150	1037/1049	T	acC/acT	COSM3488908	1		-1	KIAA0319L	HGNC	HGNC:30071	protein_coding	YES	CCDS390.1	ENSP00000318406	Q8IZA0		UPI000003F081	NM_024874.4			21/21		hmmpanther:PTHR10083:SF166,hmmpanther:PTHR10083											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	4	35434933	35434933	G	A	1	0	0	0	0	0	0	0	1	8081	1219	43	3		3	KIAA0319L	1	35434933	Silent	SNP	G	11LU035_TP	8544866	35434933	213521489	2	1738											
PPCS	0	.	GRCh38	chr1	42456883	42456883	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttggctgtccgctctgcgGccttcgggcccagccctttc	2	11	11	17	3	1	0	0	0	1	0	4	0	2	0	4	3	2	2	4	3	0	3	novel		11LU035_TP	11LU035_NB	G	G																c.318G>T	p.=	p.R106R	ENST00000372561	1/3	317	274	43	445	444	1	strelka-varscan-mutect	PPCS,synonymous_variant,p.=,ENST00000372561,NM_024664.3;PPCS,synonymous_variant,p.=,ENST00000372560,;PPCS,intron_variant,,ENST00000372556,;PPCS,intron_variant,,ENST00000372562,NM_001287506.1,NM_001287509.1,NM_001287508.1,NM_001287510.1,NM_001077447.2;ZMYND12,upstream_gene_variant,,ENST00000372565,NM_001146192.1,NM_032257.4;PPCS,non_coding_transcript_exon_variant,,ENST00000472013,;PPCS,non_coding_transcript_exon_variant,,ENST00000471420,;PPCS,upstream_gene_variant,,ENST00000469615,;PPCS,upstream_gene_variant,,ENST00000482168,;ZMYND12,upstream_gene_variant,,ENST00000611861,;ZMYND12,upstream_gene_variant,,ENST00000461083,;	T	ENST00000372561	Transcript	synonymous_variant	325/1431	318/936	106/311	R	cgG/cgT		1		1	PPCS	HGNC	HGNC:25686	protein_coding	YES	CCDS41311.1	ENSP00000361642	Q9HAB8		UPI000035B21F	NM_024664.3			1/3		hmmpanther:PTHR12290,hmmpanther:PTHR12290:SF2,Gene3D:3.40.50.10300,Superfamily_domains:SSF102645																	LOW	1	SNV	1			1										PASS		rs753011525	.												T	2	4	4	42456883	42456883	G	T	1	0	0	0	0	0	0	0	1	12414	1190	42	2		2	PPCS	1	42456883	Silent	SNP	G	11LU035_TP	7021950	42456883	206499539	3	1739											
KTI12	0	.	GRCh38	chr1	52032840	52032840	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaagggccgggtaaaccGcaagtgctctgtggtaccag	9	7	15	10	2	2	0	1	0	1	0	2	0	2	0	3	4	3	4	3	4	5	2	novel		11LU035_TP	11LU035_NB	G	G																c.922C>G	p.Arg308Gly	p.R308G	ENST00000371614	1/1	163	139	24	287	287	0	strelka-varscan-mutect	KTI12,missense_variant,p.Arg308Gly,ENST00000371614,NM_138417.2;TXNDC12,intron_variant,,ENST00000371626,NM_015913.3;TXNDC12,downstream_gene_variant,,ENST00000610127,;RP11-91A18.4,upstream_gene_variant,,ENST00000425802,;TXNDC12,intron_variant,,ENST00000472624,;	C	ENST00000371614	Transcript	missense_variant	977/1714	922/1065	308/354	R/G	Cgg/Ggg		1		-1	KTI12	HGNC	HGNC:25160	protein_coding	YES	CCDS562.1	ENSP00000360676	Q96EK9		UPI000007168B	NM_138417.2	tolerated(0.2)		1/1		hmmpanther:PTHR12435:SF2,hmmpanther:PTHR12435,Pfam_domain:PF08433																	MODERATE		SNV				1										PASS		.	.												C	3	2	4	52032840	52032840	G	C	1	0	0	0	0	1	0	0	0	8482	1086	38	4		4	KTI12	1	52032840	Missense_Mutation	SNP	G	11LU035_TP	9575957	52032840	196923582	4	1740											
CTSK	0	.	GRCh38	chr1	150804183	150804183	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttgccagttttcttcttGagttggccctccagggcacc	5	14	10	12	0	2	1	0	1	2	0	3	1	3	1	4	2	1	4	4	2	0	6			11LU035_TP	11LU035_NB	G	G																c.456C>G	p.=	p.L152L	ENST00000271651	5/8	429	330	99	558	558	0	strelka-varscan-mutect	CTSK,synonymous_variant,p.=,ENST00000271651,NM_000396.3;CTSK,synonymous_variant,p.=,ENST00000443913,;CTSK,non_coding_transcript_exon_variant,,ENST00000480670,;UBE2D3P3,downstream_gene_variant,,ENST00000426992,;	C	ENST00000271651	Transcript	synonymous_variant	567/1692	456/990	152/329	L	ctC/ctG	COSM4495574,COSM4495575	1		-1	CTSK	HGNC	HGNC:2536	protein_coding	YES	CCDS969.1	ENSP00000271651	P43235		UPI0000000DFB	NM_000396.3			5/8		hmmpanther:PTHR12411:SF55,hmmpanther:PTHR12411,Pfam_domain:PF00112,Gene3D:3.90.70.10,SMART_domains:SM00645,Superfamily_domains:SSF54001											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												C	2	2	4	150804183	150804183	G	C	1	0	0	0	0	0	0	0	1	3846	1277	45	4		4	CTSK	1	150804183	Silent	SNP	G	11LU035_TP	98771343	150804183	98152239	5	1741											
RABGAP1L	0	.	GRCh38	chr1	174702208	174702208	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactctttttactgccaaGttcccactctgcatggtgtt	6	16	6	13	0	3	0	1	0	2	0	4	0	4	0	2	1	3	3	2	1	2	5			11LU035_TP	11LU035_NB	G	G																c.2121G>C	p.Lys707Asn	p.K707N	ENST00000251507	17/21	190	135	55	201	201	0	strelka-varscan	RABGAP1L,missense_variant,p.Lys707Asn,ENST00000251507,NM_014857.4;RABGAP1L,missense_variant,p.Lys14Asn,ENST00000325589,;RABGAP1L,missense_variant,p.Lys33Asn,ENST00000367687,;RABGAP1L,missense_variant,p.Lys34Asn,ENST00000347255,;RABGAP1L,missense_variant,p.Lys136Asn,ENST00000474375,;RABGAP1L,missense_variant,p.Lys14Asn,ENST00000529145,;RABGAP1L,missense_variant,p.Lys14Asn,ENST00000469553,;	C	ENST00000251507	Transcript	missense_variant	2295/2899	2121/2448	707/815	K/N	aaG/aaC	COSM4431252,COSM4431253,COSM4431254	1		1	RABGAP1L	HGNC	HGNC:24663	protein_coding	YES	CCDS1314.1	ENSP00000251507	Q5R372	F1LJ00	UPI0000458A9F	NM_014857.4	deleterious(0)		17/21		Pfam_domain:PF00566,PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF205,SMART_domains:SM00164,Superfamily_domains:SSF47923											1,1,1						MODERATE	1	SNV	2		1,1,1	1										PASS		.	.												C	3	2	4	174702208	174702208	G	C	1	0	0	0	0	1	0	0	0	13124	1020	36	4		4	RABGAP1L	1	174702208	Missense_Mutation	SNP	G	11LU035_TP	23898025	174702208	74254214	6	1742											
KIAA1614	0	.	GRCh38	chr1	180916566	180916566	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgggcagctggacggcAgcatcaatgaggagcaaccc	11	5	14	11	1	1	2	1	2	0	0	1	4	1	4	1	4	4	5	1	4	2	0	rs749727539		11LU035_TP	11LU035_NB	A	A																c.463A>T	p.Ser155Cys	p.S155C	ENST00000367588	2/9	56	47	9	103	103	0	strelka-varscan	KIAA1614,missense_variant,p.Ser155Cys,ENST00000367588,NM_020950.1;KIAA1614,downstream_gene_variant,,ENST00000496210,;	T	ENST00000367588	Transcript	missense_variant	518/9654	463/3573	155/1190	S/C	Agc/Tgc	rs749727539	1		1	KIAA1614	HGNC	HGNC:29327	protein_coding	YES	CCDS41442.1	ENSP00000356560	Q5VZ46		UPI00001C1D75	NM_020950.1	deleterious(0.04)		2/9																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	4	180916566	180916566	A	T	1	0	0	0	0	1	0	0	0	8124	188	7	4		4	KIAA1614	1	180916566	Missense_Mutation	SNP	A	11LU035_TP	6214358	180916566	68039856	7	1743											
B3GALT2	0	.	GRCh38	chr1	193180615	193180615	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatctccagaaaaaacataAccagttccagaacagaagac	20	5	6	10	0	1	5	0	0	1	5	3	5	2	5	3	0	3	1	3	0	6	2	novel		11LU035_TP	11LU035_NB	A	A																c.948T>A	p.=	p.G316G	ENST00000367434	2/2	226	199	27	301	300	1	strelka-varscan	B3GALT2,synonymous_variant,p.=,ENST00000367434,NM_003783.3;CDC73,intron_variant,,ENST00000367435,NM_024529.4;CDC73,intron_variant,,ENST00000635846,;	T	ENST00000367434	Transcript	synonymous_variant	1704/3274	948/1269	316/422	G	ggT/ggA		1		-1	B3GALT2	HGNC	HGNC:917	protein_coding	YES	CCDS1383.1	ENSP00000356404	O43825		UPI0000073BFF	NM_003783.3			2/2		hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF19,Pfam_domain:PF01762																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	4	193180615	193180615	A	T	1	0	0	0	0	0	0	0	1	1405	30	2	4		4	B3GALT2	1	193180615	Silent	SNP	A	11LU035_TP	12264049	193180615	55775807	8	1744											
PPFIA4	0	.	GRCh38	chr1	203049699	203049699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcctgtctgaagagattgaGaagctgcgccaagaggtgga	11	7	15	8	2	1	4	0	2	1	3	1	7	1	5	2	2	2	1	2	2	3	1	novel		11LU035_TP	11LU035_NB	G	G																c.1455G>A	p.=	p.E485E	ENST00000447715	17/35	67	49	18	90	90	0	strelka-varscan	PPFIA4,synonymous_variant,p.=,ENST00000367240,NM_001304331.1,NM_001304332.1;PPFIA4,synonymous_variant,p.=,ENST00000447715,;PPFIA4,synonymous_variant,p.=,ENST00000600426,;PPFIA4,5_prime_UTR_variant,,ENST00000295706,;PPFIA4,upstream_gene_variant,,ENST00000272198,;PPFIA4,upstream_gene_variant,,ENST00000599966,;PPFIA4,upstream_gene_variant,,ENST00000599514,;PPFIA4,downstream_gene_variant,,ENST00000601609,;PPFIA4,upstream_gene_variant,,ENST00000600447,;	A	ENST00000447715	Transcript	synonymous_variant	1896/6349	1455/3558	485/1185	E	gaG/gaA		1		1	PPFIA4	HGNC	HGNC:9248	protein_coding	YES		ENSP00000402576	O75335		UPI0001661778				17/35		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF5																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	4	203049699	203049699	G	A	1	0	0	0	0	0	0	0	1	12421	933	33	3		3	PPFIA4	1	203049699	Silent	SNP	G	11LU035_TP	9869084	203049699	45906723	9	1745											
DNAH14	0	.	GRCh38	chr1	225192898	225192898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagactaaagtcaagaatctCagatttatccaatgtaagtt	16	12	6	7	0	2	3	2	0	1	3	4	3	3	3	1	0	0	2	1	0	7	5	novel		11LU035_TP	11LU035_NB	C	C																c.5807C>T	p.Ser1936Leu	p.S1936L	ENST00000430092	37/84	94	68	26	38	38	0	strelka-varscan	DNAH14,missense_variant,p.Ser1936Leu,ENST00000430092,NM_001373.1;DNAH14,missense_variant,p.Ser1936Leu,ENST00000439375,;DNAH14,missense_variant,p.Ser1531Leu,ENST00000445597,;	T	ENST00000430092	Transcript	missense_variant	6022/13763	5807/13548	1936/4515	S/L	tCa/tTa		1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000414402	Q0VDD8		UPI000192C36D	NM_001373.1	tolerated(0.09)		37/84		SMART_domains:SM00382																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	4	225192898	225192898	C	T	1	0	0	0	0	1	0	0	0	4415	838	29	3		3	DNAH14	1	225192898	Missense_Mutation	SNP	C	11LU035_TP	22143199	225192898	23763524	10	1746											
RYR2	0	.	GRCh38	chr1	237589875	237589875	+	Frame_Shift_Del	DEL	C	C	-																															gtcagcaccttgaaatatttCaccatctgtggcttacaaga																								novel		11LU035_TP	11LU035_NB	C	C																c.3681delC	p.Phe1227LeufsTer25	p.F1227Lfs*25	ENST00000366574	30/105	365	323	42	496	496	0	sindel-varindel-pindel	RYR2,frameshift_variant,p.Phe1227LeufsTer25,ENST00000366574,NM_001035.2;RYR2,frameshift_variant,p.Phe1211LeufsTer25,ENST00000360064,;	-	ENST00000366574	Transcript	frameshift_variant	3998/16562	3681/14904	1227/4967	F/X	ttC/tt		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			30/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	4	237589875	237589875	C	-	1	0	1	0	1	0	0	0	0	14029	825	29	0		0	RYR2	1	237589875	Frame_Shift_Del	DEL	C	11LU035_TP	12396977	237589875	11366547	11	1747											
OR2T10	0	.	GRCh38	chr1	248593050	248593050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtaatgtgggaggagcagGtggtgaaggcctttttccga	8	11	16	6	1	0	1	0	1	0	0	1	4	1	3	2	5	1	2	2	5	2	3	rs774284253		11LU035_TP	11LU035_NB	G	G																c.719C>A	p.Thr240Asn	p.T240N	ENST00000330500	1/1	109	81	28	169	169	0	strelka-varscan	OR2T10,missense_variant,p.Thr240Asn,ENST00000330500,NM_001004693.1;Y_RNA,downstream_gene_variant,,ENST00000364732,;	T	ENST00000330500	Transcript	missense_variant	719/939	719/939	240/312	T/N	aCc/aAc	rs774284253,COSM4911295	1		-1	OR2T10	HGNC	HGNC:19573	protein_coding	YES	CCDS31121.1	ENSP00000329210	Q8NGZ9	A0A126GV79	UPI000004F23B	NM_001004693.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF101,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245											0,1						MODERATE	1	SNV			0,1	1										PASS		.	.												T	3	4	4	248593050	248593050	G	T	1	0	0	0	0	1	0	0	0	11095	1261	44	2		2	OR2T10	1	248593050	Missense_Mutation	SNP	G	11LU035_TP	11003175	248593050	363372	12	1748											
TPO	0	.	GRCh38	chr2	1477203	1477203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaacctgtccacggccaacCcgcggcagcagatgaacggg	10	3	14	14	4	0	2	0	1	0	1	1	3	1	3	4	4	4	2	4	4	3	0	novel		11LU035_TP	11LU035_NB	C	C																c.937C>A	p.Pro313Thr	p.P313T	ENST00000345913	8/17	441	406	35	676	675	1	strelka-varscan-mutect	TPO,missense_variant,p.Pro242Thr,ENST00000422464,;TPO,missense_variant,p.Pro313Thr,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Pro313Thr,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Pro313Thr,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,missense_variant,p.Pro313Thr,ENST00000346956,NM_175721.3;TPO,intron_variant,,ENST00000382198,NM_175722.3;TPO,intron_variant,,ENST00000497517,;	A	ENST00000345913	Transcript	missense_variant	1028/3145	937/2802	313/933	P/T	Ccg/Acg		1		1	TPO	HGNC	HGNC:12015	protein_coding	YES	CCDS1643.1	ENSP00000318820	P07202		UPI000013D480	NM_000547.5	deleterious(0.04)		8/17		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF60,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113																	MODERATE	1	SNV	1			1										PASS		rs917619265	.												A	3	1	4	1477203	1477203	C	A	1	0	0	0	0	1	0	0	0	16891	623	22	2		2	TPO	2	1477203	Missense_Mutation	SNP	C	11LU035_TP		1477203	240716326	13	1749											
PXDN	0	.	GRCh38	chr2	1648428	1648428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccccgaacagccccctgaGaagcggatcgatgccgccct	9	4	10	18	4	0	1	0	1	0	1	1	5	0	2	6	1	4	0	6	1	2	0	novel		11LU035_TP	11LU035_NB	G	G																c.3352C>T	p.Leu1118Phe	p.L1118F	ENST00000252804	17/23	602	475	127	870	869	1	strelka-varscan-mutect	PXDN,missense_variant,p.Leu1118Phe,ENST00000252804,NM_012293.2;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,downstream_gene_variant,,ENST00000465809,;PXDN,intron_variant,,ENST00000478155,;PXDN,downstream_gene_variant,,ENST00000493779,;PXDN,upstream_gene_variant,,ENST00000453308,;	A	ENST00000252804	Transcript	missense_variant	3403/6808	3352/4440	1118/1479	L/F	Ctc/Ttc		1		-1	PXDN	HGNC	HGNC:14966	protein_coding	YES	CCDS46221.1	ENSP00000252804	Q92626		UPI00001C1DC2	NM_012293.2	deleterious(0)		17/23		Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF75,Superfamily_domains:SSF48113																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	4	1648428	1648428	G	A	1	0	0	0	0	1	0	0	0	13001	942	33	3		3	PXDN	2	1648428	Missense_Mutation	SNP	G	11LU035_TP	171225	1648428	240545101	14	1750											
PXDN	0	.	GRCh38	chr2	1648614	1648614	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgccagcattgatgcCggggtcgtagccgtggtact	8	9	15	9	3	0	2	0	1	0	1	1	3	0	2	3	3	5	3	3	3	3	3	rs759881927		11LU035_TP	11LU035_NB	C	C																c.3166G>T	p.Gly1056Cys	p.G1056C	ENST00000252804	17/23	367	254	113	785	784	1	strelka-varscan-mutect	PXDN,missense_variant,p.Gly1056Cys,ENST00000252804,NM_012293.2;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,downstream_gene_variant,,ENST00000465809,;PXDN,intron_variant,,ENST00000478155,;PXDN,downstream_gene_variant,,ENST00000493779,;	A	ENST00000252804	Transcript	missense_variant	3217/6808	3166/4440	1056/1479	G/C	Ggc/Tgc	rs759881927	1		-1	PXDN	HGNC	HGNC:14966	protein_coding	YES	CCDS46221.1	ENSP00000252804	Q92626		UPI00001C1DC2	NM_012293.2	deleterious(0)		17/23		Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF75,Superfamily_domains:SSF48113																	MODERATE	1	SNV	1			1										PASS		rs759881927	.												A	3	1	4	1648614	1648614	C	A	1	0	0	0	0	1	0	0	0	13001	652	23	1		1	PXDN	2	1648614	Missense_Mutation	SNP	C	11LU035_TP	186	1648614	240544915	15	1751											
PPP1R21	0	.	GRCh38	chr2	48440993	48440993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggggaagtaccagaagctgGctcaggagtactcgaaggta	13	6	15	7	1	1	1	1	0	0	1	2	4	1	3	1	5	3	5	1	5	6	3	rs770557645		11LU035_TP	11LU035_NB	G	G																c.40G>C	p.Ala14Pro	p.A14P	ENST00000294952	1/22	149	127	22	347	347	0	strelka-varscan	PPP1R21,missense_variant,p.Ala14Pro,ENST00000294952,NM_001135629.2;PPP1R21,missense_variant,p.Ala14Pro,ENST00000281394,NM_152994.4;PPP1R21,missense_variant,p.Ala14Pro,ENST00000449090,NM_001193475.1;PPP1R21,upstream_gene_variant,,ENST00000421486,;RP11-191L17.1,upstream_gene_variant,,ENST00000609028,;PPP1R21,missense_variant,p.Ala14Pro,ENST00000416913,;PPP1R21,intron_variant,,ENST00000431614,;	C	ENST00000294952	Transcript	missense_variant	197/3142	40/2343	14/780	A/P	Gct/Cct	rs770557645	1		1	PPP1R21	HGNC	HGNC:30595	protein_coding	YES	CCDS46278.1	ENSP00000294952	Q6ZMI0		UPI000015C523	NM_001135629.2	deleterious(0)		1/22		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10205,hmmpanther:PTHR21448,SMART_domains:SM01254																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	4	48440993	48440993	G	C	1	0	0	0	0	1	0	0	0	12483	1203	42	4		4	PPP1R21	2	48440993	Missense_Mutation	SNP	G	11LU035_TP	46792379	48440993	193752536	16	1752											
AFF3	0	.	GRCh38	chr2	100006768	100006768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcagcttaggagactcaTcaggggcctgatcttggccg	8	10	12	11	1	4	2	3	1	1	1	4	3	4	2	2	4	1	1	2	4	1	3	novel		11LU035_TP	11LU035_NB	T	T																c.812A>G	p.Asp271Gly	p.D271G	ENST00000409579	7/25	233	219	14	278	278	0	strelka-varscan-mutect	AFF3,missense_variant,p.Asp246Gly,ENST00000409236,;AFF3,missense_variant,p.Asp246Gly,ENST00000317233,NM_002285.2;AFF3,missense_variant,p.Asp271Gly,ENST00000409579,NM_001025108.1;AFF3,downstream_gene_variant,,ENST00000423966,;AFF3,downstream_gene_variant,,ENST00000440445,;AFF3,downstream_gene_variant,,ENST00000415384,;AFF3,downstream_gene_variant,,ENST00000432037,;AFF3,downstream_gene_variant,,ENST00000424600,;AFF3,downstream_gene_variant,,ENST00000416492,;AFF3,downstream_gene_variant,,ENST00000441400,;AFF3,missense_variant,p.Asp27Gly,ENST00000430789,;AFF3,non_coding_transcript_exon_variant,,ENST00000498090,;	C	ENST00000409579	Transcript	missense_variant	1045/4342	812/3756	271/1251	D/G	gAt/gGt		1		-1	AFF3	HGNC	HGNC:6473	protein_coding	YES	CCDS33258.1	ENSP00000386834	P51826		UPI0000545269	NM_001025108.1	deleterious(0.03)		7/25		hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF16,Pfam_domain:PF05110																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	4	100006768	100006768	T	C	1	0	0	0	0	1	0	0	0	435	1435	50	5		5	AFF3	2	100006768	Missense_Mutation	SNP	T	11LU035_TP	51565775	100006768	142186761	17	1753											
LRP1B	0	.	GRCh38	chr2	140335831	140335831	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctgggccttttaaatTcaggacactacaaggaaaca	13	10	8	10	0	1	0	1	0	0	0	2	2	2	2	2	3	2	0	2	3	5	4	novel		11LU035_TP	11LU035_NB	T	T																c.11900A>G	p.Glu3967Gly	p.E3967G	ENST00000389484	78/91	175	163	12	211	211	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Glu3967Gly,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Glu199Gly,ENST00000437977,;	C	ENST00000389484	Transcript	missense_variant	12872/16535	11900/13800	3967/4599	E/G	gAa/gGa		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(1)		78/91		PROSITE_profiles:PS51120,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	4	140335831	140335831	T	C	1	0	0	0	0	1	0	0	0	8850	1783	62	5		5	LRP1B	2	140335831	Missense_Mutation	SNP	T	11LU035_TP	40329063	140335831	101857698	18	1754											
LRP1B	0	.	GRCh38	chr2	140350800	140350800	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatggtatttacttacaatCaagccactgtttgcttgcct	10	15	6	10	0	1	0	1	0	0	0	1	0	1	0	2	1	5	3	2	1	6	6	novel		11LU035_TP	11LU035_NB	C	C																c.11889G>C	p.Leu3963Phe	p.L3963F	ENST00000389484	77/91	108	81	27	165	165	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Leu3963Phe,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Leu195Phe,ENST00000437977,;	G	ENST00000389484	Transcript	missense_variant	12861/16535	11889/13800	3963/4599	L/F	ttG/ttC		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(0.07)		77/91		PROSITE_profiles:PS51120,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	4	140350800	140350800	C	G	1	0	0	0	0	1	0	0	0	8850	840	29	4		4	LRP1B	2	140350800	Missense_Mutation	SNP	C	11LU035_TP	14969	140350800	101842729	19	1755											
NEB	0	.	GRCh38	chr2	151724301	151724301	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaacggcctggacaagttCaggggcatcaggaggaagca	12	6	14	9	1	2	0	2	0	0	0	2	3	2	3	1	6	2	3	1	6	3	2	rs35686968		11LU035_TP	11LU035_NB	C	C																c.571G>T	p.Glu191Ter	p.E191*	ENST00000618972	8/183	205	138	67	239	239	0	strelka-varscan-mutect	NEB,stop_gained,p.Glu191Ter,ENST00000618972,NM_001271208.1;NEB,stop_gained,p.Glu191Ter,ENST00000397345,NM_001164508.1;NEB,stop_gained,p.Glu191Ter,ENST00000427231,NM_001164507.1;NEB,stop_gained,p.Glu191Ter,ENST00000603639,;NEB,stop_gained,p.Glu191Ter,ENST00000604864,;NEB,stop_gained,p.Glu191Ter,ENST00000409198,NM_004543.4;NEB,stop_gained,p.Glu191Ter,ENST00000172853,;	A	ENST00000618972	Transcript	stop_gained	774/26307	571/25683	191/8560	E/*	Gaa/Taa	rs35686968	1		-1	NEB	HGNC	HGNC:7720	protein_coding	YES	CCDS74588.1	ENSP00000484342		A0A087X1N7	UPI0004E4CCB0	NM_001271208.1			8/183		PROSITE_profiles:PS51216,Pfam_domain:PF00880,SMART_domains:SM00227										uncertain_significance							HIGH	1	SNV	5		1	1										PASS		rs35686968	.												A	4	1	4	151724301	151724301	C	A	1	0	0	0	0	0	1	0	0	10326	835	29	2		2	NEB	2	151724301	Nonsense_Mutation	SNP	C	11LU035_TP	11373501	151724301	90469228	20	1756											
COL3A1	0	.	GRCh38	chr2	189004317	189004317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacggggtcttgcaggaccaCcaggcatgccaggtcctagg	8	6	14	13	1	1	0	0	0	1	0	2	1	2	1	4	6	2	2	4	6	1	2	novel		11LU035_TP	11LU035_NB	C	C																c.2884C>T	p.Pro962Ser	p.P962S	ENST00000304636	40/51	239	218	21	315	314	1	strelka-varscan-mutect	COL3A1,missense_variant,p.Pro962Ser,ENST00000304636,NM_000090.3;COL3A1,intron_variant,,ENST00000317840,;COL3A1,upstream_gene_variant,,ENST00000487010,;COL3A1,downstream_gene_variant,,ENST00000467886,;	T	ENST00000304636	Transcript	missense_variant	3054/5543	2884/4401	962/1466	P/S	Cca/Tca		1		1	COL3A1	HGNC	HGNC:2201	protein_coding	YES	CCDS2297.1	ENSP00000304408	P02461		UPI0000456EBA	NM_000090.3	deleterious(0.04)		40/51		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	4	189004317	189004317	C	T	1	0	0	0	0	1	0	0	0	3477	507	18	3		3	COL3A1	2	189004317	Missense_Mutation	SNP	C	11LU035_TP	37280016	189004317	53189212	21	1757											
COL5A2	0	.	GRCh38	chr2	189043227	189043227	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacctcggtctccatgaTcacctttgtcaccacgaggt	7	12	8	14	2	4	1	3	1	1	0	6	2	4	1	4	2	0	0	4	2	0	1	rs781112304		11LU035_TP	11LU035_NB	T	T																c.3395A>T	p.Asp1132Val	p.D1132V	ENST00000374866	48/54	214	202	12	269	269	0	strelka-varscan-mutect	COL5A2,missense_variant,p.Asp1132Val,ENST00000374866,NM_000393.3;COL5A2,missense_variant,p.Asp745Val,ENST00000618828,;	A	ENST00000374866	Transcript	missense_variant	3670/6949	3395/4500	1132/1499	D/V	gAt/gTt	rs781112304	1		-1	COL5A2	HGNC	HGNC:2210	protein_coding	YES	CCDS33350.1	ENSP00000364000	P05997		UPI00006C511C	NM_000393.3	tolerated(0.13)		48/54		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF539,hmmpanther:PTHR24023,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		rs781112304	.												A	3	1	4	189043227	189043227	T	A	1	0	0	0	0	1	0	0	0	3486	1435	50	4		4	COL5A2	2	189043227	Missense_Mutation	SNP	T	11LU035_TP	38910	189043227	53150302	22	1758											
C2orf66	0	.	GRCh38	chr2	196807516	196807516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcagaagcagtaagttctGactggaaagagagaggtcta	15	8	13	5	0	2	4	0	1	2	3	2	6	2	5	0	2	2	4	0	2	4	3	novel		11LU035_TP	11LU035_NB	G	G																c.281C>T	p.Ser94Leu	p.S94L	ENST00000342506	2/3	228	177	51	428	427	1	strelka-varscan-mutect	C2orf66,missense_variant,p.Ser94Leu,ENST00000342506,NM_213608.2;	A	ENST00000342506	Transcript	missense_variant	1170/1669	281/354	94/117	S/L	tCa/tTa		1		-1	C2orf66	HGNC	HGNC:33809	protein_coding	YES	CCDS2317.1	ENSP00000339384	Q6UXQ4		UPI00001602CE	NM_213608.2	tolerated(0.22)		2/3		Pfam_domain:PF15846,hmmpanther:PTHR15495,hmmpanther:PTHR15495:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	4	196807516	196807516	G	A	1	0	0	0	0	1	0	0	0	2041	1294	45	3		3	C2orf66	2	196807516	Missense_Mutation	SNP	G	11LU035_TP	7764289	196807516	45386013	23	1759											
TOPAZ1	0	.	GRCh38	chr3	44244285	44244285	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacctataatcaaggatgaTaaaaagataaaatcagagga	22	7	8	4	0	2	3	2	1	0	2	2	6	2	5	1	2	1	0	1	2	9	4	novel		11LU035_TP	11LU035_NB	T	T																c.1779T>C	p.=	p.D593D	ENST00000309765	2/20	128	93	35	123	123	0	strelka-varscan	TOPAZ1,synonymous_variant,p.=,ENST00000309765,NM_001145030.1;	C	ENST00000309765	Transcript	synonymous_variant	1947/5334	1779/5079	593/1692	D	gaT/gaC		1		1	TOPAZ1	HGNC	HGNC:24746	protein_coding	YES	CCDS46809.1	ENSP00000310303	Q8N9V7		UPI000047FF75	NM_001145030.1			2/20		hmmpanther:PTHR35671,hmmpanther:PTHR35671:SF1,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	4	44244285	44244285	T	C	1	0	0	0	0	0	0	0	1	16845	1403	49	5		5	TOPAZ1	3	44244285	Silent	SNP	T	11LU035_TP		44244285	154051274	24	1760											
EXOSC7	0	.	GRCh38	chr3	44997097	44997097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtatagttcagccagtGctacccctgaatttgaaggt	9	15	9	8	0	1	2	1	2	0	0	1	2	1	2	3	1	3	3	3	1	5	7	novel		11LU035_TP	11LU035_NB	G	G																c.265G>A	p.Ala89Thr	p.A89T	ENST00000265564	4/8	121	112	9	176	176	0	strelka-varscan	EXOSC7,missense_variant,p.Ala89Thr,ENST00000265564,NM_015004.3;EXOSC7,non_coding_transcript_exon_variant,,ENST00000461361,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000491476,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000468667,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000481405,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000482004,;CLEC3B,upstream_gene_variant,,ENST00000490386,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000467846,;	A	ENST00000265564	Transcript	missense_variant	313/1055	265/876	89/291	A/T	Gct/Act		1		1	EXOSC7	HGNC	HGNC:28112	protein_coding	YES	CCDS2725.1	ENSP00000265564	Q15024	A0A024R2P7	UPI000020A5E9	NM_015004.3	deleterious(0)		4/8		Pfam_domain:PF01138,hmmpanther:PTHR11097,hmmpanther:PTHR11097:SF8,Superfamily_domains:SSF54211																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	4	44997097	44997097	G	A	1	0	0	0	0	1	0	0	0	5187	1319	46	3		3	EXOSC7	3	44997097	Missense_Mutation	SNP	G	11LU035_TP	752812	44997097	153298462	25	1761											
LSAMP	0	.	GRCh38	chr3	115842517	115842517	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgccgaggcctcacatttGagtgaagcttgtcgtcctgt	7	12	11	11	2	1	2	1	2	0	0	3	3	2	2	3	1	2	1	3	1	1	2	novel		11LU035_TP	11LU035_NB	G	G																c.711C>G	p.=	p.L237L	ENST00000490035	5/7	221	153	68	327	327	0	strelka-varscan	LSAMP,synonymous_variant,p.=,ENST00000490035,NM_002338.3;LSAMP,synonymous_variant,p.=,ENST00000539563,;LSAMP,synonymous_variant,p.=,ENST00000333617,;RN7SL815P,downstream_gene_variant,,ENST00000470970,;LSAMP,non_coding_transcript_exon_variant,,ENST00000498645,;LSAMP,upstream_gene_variant,,ENST00000475403,;LSAMP,non_coding_transcript_exon_variant,,ENST00000473171,;	C	ENST00000490035	Transcript	synonymous_variant	1211/9446	711/1017	237/338	L	ctC/ctG		1		-1	LSAMP	HGNC	HGNC:6705	protein_coding	YES	CCDS2982.1	ENSP00000419000	Q13449		UPI00000746A0	NM_002338.3			5/7		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF118,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	4	115842517	115842517	G	C	1	0	0	0	0	0	0	0	1	8954	1277	45	4		4	LSAMP	3	115842517	Silent	SNP	G	11LU035_TP	70845420	115842517	82453042	26	1762											
ATP11B	0	.	GRCh38	chr3	182867413	182867413	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggcaattctgaagaaactAtggaggttaaaactcttgga	14	12	10	5	0	2	2	0	1	2	1	2	4	2	4	0	4	2	2	0	4	6	5	rs759009161		11LU035_TP	11LU035_NB	A	A																c.1657A>G	p.Met553Val	p.M553V	ENST00000323116	15/30	104	60	44	94	94	0	strelka-varscan	ATP11B,missense_variant,p.Met553Val,ENST00000323116,NM_014616.2;ATP11B,missense_variant,p.Met354Val,ENST00000498086,;ATP11B,non_coding_transcript_exon_variant,,ENST00000490303,;	G	ENST00000323116	Transcript	missense_variant	1917/7325	1657/3534	553/1177	M/V	Atg/Gtg	rs759009161,COSM1617245	1		1	ATP11B	HGNC	HGNC:13553	protein_coding	YES	CCDS33896.1	ENSP00000321195	Q9Y2G3		UPI000004124E	NM_014616.2	tolerated(0.06)		15/30		Gene3D:3.40.1110.10,Pfam_domain:PF13246,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF57,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01652											0,1						MODERATE	1	SNV	2		0,1	1										PASS		.	.												G	3	3	4	182867413	182867413	A	G	1	0	0	0	0	1	0	0	0	1272	449	16	5		5	ATP11B	3	182867413	Missense_Mutation	SNP	A	11LU035_TP	67024896	182867413	15428146	27	1763											
ZNF721	0	.	GRCh38	chr4	442175	442175	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctattcaggtgtgaggaCtgtttaaacactttcccaca	10	14	8	9	0	2	1	1	1	1	0	3	2	3	2	1	2	1	1	1	2	3	5	novel		11LU035_TP	11LU035_NB	C	C																c.2292G>C	p.Gln764His	p.Q764H	ENST00000511833	3/3	139	127	12	201	201	0	strelka-varscan-mutect	ZNF721,missense_variant,p.Gln752His,ENST00000338977,;ZNF721,missense_variant,p.Gln764His,ENST00000511833,NM_133474.3;ZNF721,intron_variant,,ENST00000506646,;ZNF721,downstream_gene_variant,,ENST00000505900,;RP11-2H3.7,intron_variant,,ENST00000631198,;ABCA11P,intron_variant,,ENST00000451020,;ABCA11P,intron_variant,,ENST00000507854,;ABCA11P,intron_variant,,ENST00000514396,;ZNF721,intron_variant,,ENST00000507078,;ZNF721,intron_variant,,ENST00000515578,;	G	ENST00000511833	Transcript	missense_variant	2486/2966	2292/2772	764/923	Q/H	caG/caC		1		-1	ZNF721	HGNC	HGNC:29425	protein_coding	YES	CCDS46991.1	ENSP00000428878	Q8TF20		UPI0000E9B4A9	NM_133474.3	tolerated(0.55)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF20,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE		SNV	4			1										PASS		.	.												G	3	3	4	442175	442175	C	G	1	0	0	0	0	1	0	0	0	18698	564	20	4		4	ZNF721	4	442175	Missense_Mutation	SNP	C	11LU035_TP		442175	189772380	28	1764											
GAK	0	.	GRCh38	chr4	867169	867169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcgcccacctcggagtGcaggcccaggaggtcgaccc	6	4	13	18	3	0	0	0	0	0	0	2	3	0	2	5	4	2	1	5	4	0	0	novel		11LU035_TP	11LU035_NB	G	G																c.2659C>T	p.His887Tyr	p.H887Y	ENST00000314167	21/28	49	38	11	148	148	0	strelka-varscan-mutect	GAK,missense_variant,p.His887Tyr,ENST00000314167,NM_005255.2;GAK,missense_variant,p.His808Tyr,ENST00000511163,NM_001318134.1,NM_001286833.1;GAK,missense_variant,p.His18Tyr,ENST00000510799,;GAK,intron_variant,,ENST00000618573,;GAK,upstream_gene_variant,,ENST00000511980,;GAK,non_coding_transcript_exon_variant,,ENST00000509566,;GAK,non_coding_transcript_exon_variant,,ENST00000515868,;	A	ENST00000314167	Transcript	missense_variant	2770/4442	2659/3936	887/1311	H/Y	Cac/Tac		1		-1	GAK	HGNC	HGNC:4113	protein_coding	YES	CCDS3340.1	ENSP00000314499	O14976		UPI000012B04A	NM_005255.2	tolerated(0.06)		21/28		hmmpanther:PTHR23172:SF34,hmmpanther:PTHR23172																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	4	867169	867169	G	A	1	0	0	0	0	1	0	0	0	6063	1319	46	3		3	GAK	4	867169	Missense_Mutation	SNP	G	11LU035_TP	424994	867169	189347386	29	1765											
GABRA4	0	.	GRCh38	chr4	46977485	46977485	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtcatattatgtgagacaGatttctttccattcctgaag	10	16	7	8	0	2	3	1	2	1	2	4	4	4	3	2	0	0	0	2	0	3	5			11LU035_TP	11LU035_NB	G	G																c.419C>G	p.Ser140Cys	p.S140C	ENST00000264318	4/9	209	194	15	166	166	0	strelka-varscan	GABRA4,missense_variant,p.Ser140Cys,ENST00000264318,NM_000809.3,NM_001204266.1;GABRA4,3_prime_UTR_variant,,ENST00000508560,;GABRA4,3_prime_UTR_variant,,ENST00000511523,;GABRA4,3_prime_UTR_variant,,ENST00000502874,;	C	ENST00000264318	Transcript	missense_variant	1402/11973	419/1665	140/554	S/C	tCt/tGt	COSM2848555	1		-1	GABRA4	HGNC	HGNC:4078	protein_coding	YES	CCDS3473.1	ENSP00000264318	P48169	X5D7F5	UPI0000074200	NM_000809.3,NM_001204266.1	deleterious(0)		4/9		hmmpanther:PTHR18945:SF393,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	4	46977485	46977485	G	C	1	0	0	0	0	1	0	0	0	6034	942	33	4		4	GABRA4	4	46977485	Missense_Mutation	SNP	G	11LU035_TP	46110316	46977485	143237070	30	1766											
UNC5C	0	.	GRCh38	chr4	95301648	95301648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctctttgtggtacccgCggagctccaggccacacact	6	8	11	16	3	1	0	0	0	1	0	2	1	2	1	4	4	2	3	4	4	1	2	rs149754110		11LU035_TP	11LU035_NB	C	C																c.448G>A	p.Ala150Thr	p.A150T	ENST00000453304	3/16	248	220	28	302	302	0	strelka-varscan	UNC5C,missense_variant,p.Ala150Thr,ENST00000453304,NM_003728.3;UNC5C,missense_variant,p.Ala109Thr,ENST00000610318,;UNC5C,missense_variant,p.Ala150Thr,ENST00000513796,;UNC5C,missense_variant,p.Ala150Thr,ENST00000506749,;UNC5C,missense_variant,p.Ala150Thr,ENST00000504962,;	T	ENST00000453304	Transcript	missense_variant	797/9875	448/2796	150/931	A/T	Gcg/Acg	rs149754110,COSM5645887	1		-1	UNC5C	HGNC	HGNC:12569	protein_coding	YES	CCDS3643.1	ENSP00000406022	O95185		UPI000004E6A5	NM_003728.3	tolerated(0.23)		3/16		Gene3D:2.60.40.10,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	4	95301648	95301648	C	T	1	0	0	0	0	1	0	0	0	17517	768	27	1		1	UNC5C	4	95301648	Missense_Mutation	SNP	C	11LU035_TP	48324163	95301648	94912907	31	1767											
NEIL3	0	.	GRCh38	chr4	177341552	177341552	+	Missense_Mutation	SNP	G	G	T																															ttgtggtcagtgccactgcaGaataactgtgtgccgctttg																								novel		11LU035_TP	11LU035_NB	G	G																c.779G>T	p.Arg260Ile	p.R260I	ENST00000264596	6/10	200	186	14	269	268	1	strelka-varscan	NEIL3,missense_variant,p.Arg260Ile,ENST00000264596,NM_018248.2;RP11-376O6.2,downstream_gene_variant,,ENST00000506895,;NEIL3,intron_variant,,ENST00000513321,;	T	ENST00000264596	Transcript	missense_variant	897/2408	779/1818	260/605	R/I	aGa/aTa		1		1	NEIL3	HGNC	HGNC:24573	protein_coding	YES	CCDS3828.1	ENSP00000264596	Q8TAT5		UPI000013D53D	NM_018248.2	deleterious(0.01)		6/10		Gene3D:1.10.8.50,PROSITE_patterns:PS01242,PROSITE_profiles:PS51066,hmmpanther:PTHR22993,hmmpanther:PTHR22993:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	4	177341552	177341552	G	T	1	0	0	0	0	1	0	0	0	10348	942	33	2		2	NEIL3	4	177341552	Missense_Mutation	SNP	G	11LU035_TP	82039904	177341552	12873003	32	1768	42	2									
NEIL3	0	.	GRCh38	chr4	177341553	177341553	+	Missense_Mutation	SNP	A	A	C																															tgtggtcagtgccactgcagAataactgtgtgccgctttgg																								novel		11LU035_TP	11LU035_NB	A	A																c.780A>C	p.Arg260Ser	p.R260S	ENST00000264596	6/10	201	186	15	266	265	1	strelka-varscan	NEIL3,missense_variant,p.Arg260Ser,ENST00000264596,NM_018248.2;RP11-376O6.2,downstream_gene_variant,,ENST00000506895,;NEIL3,intron_variant,,ENST00000513321,;	C	ENST00000264596	Transcript	missense_variant	898/2408	780/1818	260/605	R/S	agA/agC		1		1	NEIL3	HGNC	HGNC:24573	protein_coding	YES	CCDS3828.1	ENSP00000264596	Q8TAT5		UPI000013D53D	NM_018248.2	tolerated(0.08)		6/10		Gene3D:1.10.8.50,PROSITE_patterns:PS01242,PROSITE_profiles:PS51066,hmmpanther:PTHR22993,hmmpanther:PTHR22993:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	4	177341553	177341553	A	C	1	0	0	0	0	1	0	0	0	10348	243	9	5		5	NEIL3	4	177341553	Missense_Mutation	SNP	A	11LU035_TP	1	177341553	12873002	33	1769	42	2									
SLC45A2	0	.	GRCh38	chr5	33944735	33944735	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaccacgacgacaacggtCccggctgtgttgaccagaaa	12	6	10	13	4	1	2	1	1	0	1	2	4	2	2	3	2	1	2	3	2	2	1	novel		11LU035_TP	11LU035_NB	C	C																c.1506G>T	p.=	p.G502G	ENST00000296589	7/7	1064	693	371	864	864	0	strelka-varscan	SLC45A2,synonymous_variant,p.=,ENST00000296589,NM_016180.4;SLC45A2,downstream_gene_variant,,ENST00000382102,NM_001012509.3;SLC45A2,downstream_gene_variant,,ENST00000510600,;	A	ENST00000296589	Transcript	synonymous_variant	1653/1772	1506/1593	502/530	G	ggG/ggT		1		-1	SLC45A2	HGNC	HGNC:16472	protein_coding	YES	CCDS3901.1	ENSP00000296589	Q9UMX9	A0A076YIB8	UPI00001AEC19	NM_016180.4			7/7		Low_complexity_(Seg):seg,hmmpanther:PTHR19432,hmmpanther:PTHR19432:SF34,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	4	33944735	33944735	C	A	1	0	0	0	0	0	0	0	1	14918	842	30	2		2	SLC45A2	5	33944735	Silent	SNP	C	11LU035_TP		33944735	147593524	34	1770											
FBN2	0	.	GRCh38	chr5	128350888	128350888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctagttcacaccgctcacagGggctcccccaggcggctccg	6	6	11	18	3	2	0	2	0	0	0	4	0	4	0	4	4	0	4	4	4	1	2	novel		11LU035_TP	11LU035_NB	G	G																c.2792C>T	p.Pro931Leu	p.P931L	ENST00000508053	27/71	564	404	160	657	655	2	strelka-varscan	FBN2,missense_variant,p.Pro931Leu,ENST00000508053,;FBN2,missense_variant,p.Pro931Leu,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Pro930Leu,ENST00000619499,;FBN2,missense_variant,p.Pro898Leu,ENST00000508989,;	A	ENST00000508053	Transcript	missense_variant	3767/11132	2792/8739	931/2912	P/L	cCc/cTc		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		deleterious(0)		27/71		Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,Superfamily_domains:SSF57581																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	4	128350888	128350888	G	A	1	0	0	0	0	1	0	0	0	5566	1232	43	3		3	FBN2	5	128350888	Missense_Mutation	SNP	G	11LU035_TP	94406153	128350888	53187371	35	1771											
DST	0	.	GRCh38	chr6	56594134	56594134	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctcaagcaacacttgTgcagactgagtggctatgat	10	13	10	8	0	1	3	1	2	1	1	2	3	1	3	0	1	3	4	0	1	3	3	novel		11LU035_TP	11LU035_NB	T	T																c.5484A>C	p.=	p.A1828A	ENST00000312431	40/95	37	32	5	49	49	0	strelka-varscan-mutect	DST,synonymous_variant,p.=,ENST00000361203,;DST,synonymous_variant,p.=,ENST00000421834,NM_183380.3;DST,synonymous_variant,p.=,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,synonymous_variant,p.=,ENST00000370788,;DST,synonymous_variant,p.=,ENST00000244364,NM_015548.4;DST,synonymous_variant,p.=,ENST00000518398,;	G	ENST00000312431	Transcript	synonymous_variant	5610/17756	5484/16614	1828/5537	A	gcA/gcC		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1			40/95		hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915																	LOW	1	SNV	5			1										PASS		rs1014197241	.												G	2	3	4	56594134	56594134	T	G	1	0	0	0	0	0	0	0	1	4604	1683	59	5		5	DST	6	56594134	Silent	SNP	T	11LU035_TP		56594134	114211845	36	1772											
PRDM1	0	.	GRCh38	chr6	106107121	106107121	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctgtagcctcaaggttCacctgaaagggaactgcgct	10	10	10	11	1	3	1	2	1	1	0	4	2	3	2	2	2	3	3	2	2	4	2	novel		11LU035_TP	11LU035_NB	C	C																c.2113C>A	p.His705Asn	p.H705N	ENST00000369096	7/7	111	83	28	204	204	0	strelka-varscan-mutect	PRDM1,missense_variant,p.His705Asn,ENST00000369096,NM_001198.3;PRDM1,missense_variant,p.His571Asn,ENST00000369089,NM_182907.2;PRDM1,missense_variant,p.His669Asn,ENST00000369091,;ATG5,intron_variant,,ENST00000636437,;PRDM1,downstream_gene_variant,,ENST00000450060,;ATG5,intron_variant,,ENST00000636335,;	A	ENST00000369096	Transcript	missense_variant	2347/5164	2113/2478	705/825	H/N	Cac/Aac		1		1	PRDM1	HGNC	HGNC:9346	protein_coding	YES	CCDS5054.2	ENSP00000358092	O75626		UPI0000D49069	NM_001198.3	deleterious(0)		7/7		Gene3D:3.30.160.60,PIRSF_domain:PIRSF013212,hmmpanther:PTHR24409,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1190911457	.												A	3	1	4	106107121	106107121	C	A	1	0	0	0	0	1	0	0	0	12581	826	29	2		2	PRDM1	6	106107121	Missense_Mutation	SNP	C	11LU035_TP	49512987	106107121	64698858	37	1773											
RAET1G	0	.	GRCh38	chr6	149919070	149919070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acttggctccagggtgctgtCcatgcccatcaagaagtcct	8	10	10	13	0	1	1	1	0	0	1	4	1	4	1	4	2	2	2	4	2	2	1	rs377738718		11LU035_TP	11LU035_NB	C	C																c.604G>T	p.Asp202Tyr	p.D202Y	ENST00000367360	3/5	205	170	35	418	418	0	strelka-varscan-mutect	RAET1G,missense_variant,p.Asp202Tyr,ENST00000367360,NM_001001788.3;RAET1G,missense_variant,p.Asp202Tyr,ENST00000479265,;RAET1E-AS1,intron_variant,,ENST00000606915,;RAET1E-AS1,intron_variant,,ENST00000446954,;RAET1E-AS1,intron_variant,,ENST00000605899,;RAET1G,missense_variant,p.Asp202Tyr,ENST00000367361,;	A	ENST00000367360	Transcript	missense_variant	672/1107	604/1005	202/334	D/Y	Gac/Tac	rs377738718	1		-1	RAET1G	HGNC	HGNC:16795	protein_coding	YES	CCDS43514.1	ENSP00000356329	Q6H3X3		UPI00003B0CBD	NM_001001788.3	deleterious(0)		3/5		hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF148																	MODERATE	1	SNV	1			1										PASS		rs377738718	.												A	3	1	4	149919070	149919070	C	A	1	0	0	0	0	1	0	0	0	13161	855	30	2		2	RAET1G	6	149919070	Missense_Mutation	SNP	C	11LU035_TP	43811949	149919070	20886909	38	1774											
TWIST1	0	.	GRCh38	chr7	19116782	19116782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgtagctgagccgctcGtgagccacatagctgcagct	9	7	13	12	3	0	2	0	2	0	0	1	2	0	2	2	1	6	6	2	1	3	2	novel		11LU035_TP	11LU035_NB	G	G																c.540C>A	p.His180Gln	p.H180Q	ENST00000242261	1/2	318	263	55	331	331	0	strelka-varscan-mutect	TWIST1,missense_variant,p.His180Gln,ENST00000242261,NM_000474.3;AC003986.6,downstream_gene_variant,,ENST00000419944,;AC003986.7,upstream_gene_variant,,ENST00000417460,;TWIST1,missense_variant,p.His113Gln,ENST00000354571,;TWIST1,missense_variant,p.His48Gln,ENST00000443687,;	T	ENST00000242261	Transcript	missense_variant	891/1666	540/609	180/202	H/Q	caC/caA		1		-1	TWIST1	HGNC	HGNC:12428	protein_coding	YES	CCDS5367.1	ENSP00000242261	Q15672		UPI00001377DC	NM_000474.3	tolerated(0.09)		1/2		hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF64,Superfamily_domains:SSF47459																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	4	19116782	19116782	G	T	1	0	0	0	0	1	0	0	0	17298	1136	40	1		1	TWIST1	7	19116782	Missense_Mutation	SNP	G	11LU035_TP		19116782	140229191	39	1775											
GLI3	0	.	GRCh38	chr7	41965020	41965020	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtagatgttgatgtgtgaGgtagcactaatctgcccaag	10	12	13	6	0	1	3	0	2	1	1	1	3	1	3	1	2	2	4	1	2	4	4	novel		11LU035_TP	11LU035_NB	G	G																c.4053C>T	p.=	p.T1351T	ENST00000395925	15/15	905	798	107	865	865	0	strelka-varscan-mutect	GLI3,synonymous_variant,p.=,ENST00000395925,NM_000168.5;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;	A	ENST00000395925	Transcript	synonymous_variant	4138/8208	4053/4743	1351/1580	T	acC/acT		1		-1	GLI3	HGNC	HGNC:4319	protein_coding	YES	CCDS5465.1	ENSP00000379258	P10071		UPI000020EE4C	NM_000168.5			15/15		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF5																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	4	41965020	41965020	G	A	1	0	0	0	0	0	0	0	1	6317	987	35	3		3	GLI3	7	41965020	Silent	SNP	G	11LU035_TP	22848238	41965020	117380953	40	1776											
LAMB4	0	.	GRCh38	chr7	108078263	108078263	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagtcttgggtatgcagtgCtcactccctccaggggggtt	6	11	14	10	0	2	1	1	0	1	1	4	1	4	1	2	4	2	4	2	4	1	3	novel		11LU035_TP	11LU035_NB	C	C																c.1941G>A	p.=	p.E647E	ENST00000388781	16/34	322	262	60	293	293	0	strelka-varscan-mutect	LAMB4,synonymous_variant,p.=,ENST00000388781,NM_007356.2;LAMB4,synonymous_variant,p.=,ENST00000205386,NM_001318046.1;LAMB4,synonymous_variant,p.=,ENST00000418464,NM_001318048.1;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;	T	ENST00000388781	Transcript	synonymous_variant	2025/5858	1941/5286	647/1761	E	gaG/gaA		1		-1	LAMB4	HGNC	HGNC:6491	protein_coding	YES	CCDS34732.1	ENSP00000373433	A4D0S4		UPI0000198CD5	NM_007356.2			16/34		PROSITE_profiles:PS51116,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF279																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	4	108078263	108078263	C	T	1	0	0	0	0	0	0	0	1	8517	796	28	3		3	LAMB4	7	108078263	Silent	SNP	C	11LU035_TP	66113243	108078263	51267710	41	1777											
SORBS3	0	.	GRCh38	chr8	22571780	22571780	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagccatcccctggacctGgggacctcctctcctaacac	7	7	7	20	0	1	0	0	0	1	0	4	2	3	2	8	3	2	0	8	3	1	1	novel		11LU035_TP	11LU035_NB	G	G																c.1806G>A	p.=	p.L602L	ENST00000240123	19/21	196	172	24	347	347	0	strelka-varscan-mutect	SORBS3,synonymous_variant,p.=,ENST00000240123,NM_005775.4;SORBS3,synonymous_variant,p.=,ENST00000523965,NM_001018003.2;SORBS3,synonymous_variant,p.=,ENST00000517962,;SORBS3,synonymous_variant,p.=,ENST00000523348,;SORBS3,downstream_gene_variant,,ENST00000523900,;SORBS3,downstream_gene_variant,,ENST00000522721,;RP11-582J16.3,upstream_gene_variant,,ENST00000517384,;SORBS3,non_coding_transcript_exon_variant,,ENST00000521554,;SORBS3,downstream_gene_variant,,ENST00000523740,;SORBS3,downstream_gene_variant,,ENST00000521787,;SORBS3,upstream_gene_variant,,ENST00000519127,;SORBS3,non_coding_transcript_exon_variant,,ENST00000517535,;SORBS3,non_coding_transcript_exon_variant,,ENST00000520207,;SORBS3,downstream_gene_variant,,ENST00000522315,;SORBS3,downstream_gene_variant,,ENST00000519453,;	A	ENST00000240123	Transcript	synonymous_variant	2189/3459	1806/2016	602/671	L	ctG/ctA		1		1	SORBS3	HGNC	HGNC:30907	protein_coding	YES	CCDS6031.1	ENSP00000240123	O60504		UPI00001AE6B5	NM_005775.4			19/21		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF204																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	4	22571780	22571780	G	A	1	0	0	0	0	0	0	0	1	15251	1335	47	3		3	SORBS3	8	22571780	Silent	SNP	G	11LU035_TP		22571780	122566856	42	1778											
KIF13B	0	.	GRCh38	chr8	29099170	29099170	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttattttggggagaaacagaGagggcgggggcaggagctat	11	8	18	4	1	0	2	0	0	0	2	0	5	0	3	0	6	2	2	0	6	3	4	novel		11LU035_TP	11LU035_NB	G	G																c.4287C>T	p.=	p.L1429L	ENST00000524189	36/40	205	178	27	296	296	0	strelka-varscan-mutect	KIF13B,synonymous_variant,p.=,ENST00000524189,NM_015254.3;KIF13B,synonymous_variant,p.=,ENST00000523130,;	A	ENST00000524189	Transcript	synonymous_variant	4326/8745	4287/5481	1429/1826	L	ctC/ctT		1		-1	KIF13B	HGNC	HGNC:14405	protein_coding	YES	CCDS55217.1	ENSP00000427900	Q9NQT8		UPI000035B257	NM_015254.3			36/40																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	4	29099170	29099170	G	A	1	0	0	0	0	0	0	0	1	8139	929	33	3		3	KIF13B	8	29099170	Silent	SNP	G	11LU035_TP	6527390	29099170	116039466	43	1779											
CNBD1	0	.	GRCh38	chr8	87206075	87206075	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttaacctttcagctaaatGataagcatctgaaaacactt	16	13	4	8	0	2	2	1	2	1	0	2	2	2	2	1	0	4	2	1	0	6	6	rs745548588		11LU035_TP	11LU035_NB	G	G																c.514G>C	p.Asp172His	p.D172H	ENST00000518476	5/11	107	100	7	116	116	0	strelka-varscan-mutect	CNBD1,missense_variant,p.Asp172His,ENST00000518476,NM_173538.2;CNBD1,missense_variant,p.Asp28His,ENST00000620844,;CNBD1,non_coding_transcript_exon_variant,,ENST00000522427,;CNBD1,non_coding_transcript_exon_variant,,ENST00000522105,;	C	ENST00000518476	Transcript	missense_variant	565/1594	514/1311	172/436	D/H	Gat/Cat	rs745548588,COSM1102238,COSM1102239	1		1	CNBD1	HGNC	HGNC:26663	protein_coding	YES	CCDS55259.1	ENSP00000430073	Q8NA66		UPI000006EA68	NM_173538.2	deleterious(0.03)		5/11		hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF142,Gene3D:2.60.120.10,Superfamily_domains:SSF51206											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs745548588	.												C	3	2	4	87206075	87206075	G	C	1	0	0	0	0	1	0	0	0	3369	1290	45	4		4	CNBD1	8	87206075	Missense_Mutation	SNP	G	11LU035_TP	58106905	87206075	57932561	44	1780											
CDK5RAP2	0	.	GRCh38	chr9	120402852	120402855	+	Frame_Shift_Del	DEL	TGAA	TGAA	-																															agctgggagcctcttgggttTgaatgtccatttcagcaagg																								novel		11LU035_TP	11LU035_NB	TGAA	TGAA																c.5258_5261delTTCA	p.Ile1753LysfsTer23	p.I1753Kfs*23	ENST00000349780	34/38	141	98	43	190	190	0	sindel-varindel	CDK5RAP2,frameshift_variant,p.Ile1753LysfsTer23,ENST00000349780,NM_018249.5;CDK5RAP2,frameshift_variant,p.Ile1674LysfsTer23,ENST00000360190,NM_001011649.2;CDK5RAP2,frameshift_variant,p.Ile1523LysfsTer23,ENST00000360822,NM_001272039.1;CDK5RAP2,frameshift_variant,p.Ile1147LysfsTer23,ENST00000416449,;CDK5RAP2,frameshift_variant,p.Ile763LysfsTer23,ENST00000425647,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000480467,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000433194,;CDK5RAP2,3_prime_UTR_variant,,ENST00000473282,;CDK5RAP2,3_prime_UTR_variant,,ENST00000480112,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000484546,;CDK5RAP2,downstream_gene_variant,,ENST00000483412,;CDK5RAP2,upstream_gene_variant,,ENST00000474262,;	-	ENST00000349780	Transcript	frameshift_variant	5438-5441/6228	5258-5261/5682	1753-1754/1893	IQ/X	aTTCAa/aa		1		-1	CDK5RAP2	HGNC	HGNC:18672	protein_coding	YES	CCDS6823.1	ENSP00000343818	Q96SN8		UPI0000367673	NM_018249.5			34/38																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	4	120402852	120402852	TGAA	-	1	0	1	0	1	0	0	0	0	2850	1812	63	0		0	CDK5RAP2	9	120402852	Frame_Shift_Del	DEL	TGAA	11LU035_TP		120402852	17991865	45	1781	43	2									
CDK5RAP2	0	.	GRCh38	chr9	120402856	120402856	+	Missense_Mutation	SNP	T	T	G																															gggagcctcttgggtttgaaTgtccatttcagcaaggagcc																								rs545646890		11LU035_TP	11LU035_NB	T	T																c.5257A>C	p.Ile1753Leu	p.I1753L	ENST00000349780	34/38	153	103	50	188	188	0	strelka-varscan-mutect	CDK5RAP2,missense_variant,p.Ile1753Leu,ENST00000349780,NM_018249.5;CDK5RAP2,missense_variant,p.Ile1674Leu,ENST00000360190,NM_001011649.2;CDK5RAP2,missense_variant,p.Ile1523Leu,ENST00000360822,NM_001272039.1;CDK5RAP2,missense_variant,p.Ile1147Leu,ENST00000416449,;CDK5RAP2,missense_variant,p.Ile763Leu,ENST00000425647,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000480467,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000433194,;CDK5RAP2,3_prime_UTR_variant,,ENST00000473282,;CDK5RAP2,3_prime_UTR_variant,,ENST00000480112,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000484546,;CDK5RAP2,downstream_gene_variant,,ENST00000483412,;CDK5RAP2,upstream_gene_variant,,ENST00000474262,;	G	ENST00000349780	Transcript	missense_variant	5437/6228	5257/5682	1753/1893	I/L	Att/Ctt	rs545646890	1		-1	CDK5RAP2	HGNC	HGNC:18672	protein_coding	YES	CCDS6823.1	ENSP00000343818	Q96SN8		UPI0000367673	NM_018249.5	tolerated(0.34)		34/38																			MODERATE	1	SNV	1			1										PASS		rs545646890	.												G	3	3	4	120402856	120402856	T	G	1	0	0	0	0	1	0	0	0	2850	1464	51	5		5	CDK5RAP2	9	120402856	Missense_Mutation	SNP	T	11LU035_TP	4	120402856	17991861	46	1782	43	2									
SLC2A8	0	.	GRCh38	chr9	127404018	127404018	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgttcacagctgtggcGgctctcatcatggacagagc	7	10	13	11	1	3	1	3	0	1	1	4	2	3	2	0	3	3	4	0	3	0	1	rs747262285		11LU035_TP	11LU035_NB	G	G																c.927G>T	p.=	p.A309A	ENST00000373371	7/10	87	81	6	221	221	0	strelka-varscan-mutect	SLC2A8,synonymous_variant,p.=,ENST00000373371,NM_014580.4;SLC2A8,synonymous_variant,p.=,ENST00000373360,NM_001271711.1;SLC2A8,synonymous_variant,p.=,ENST00000610552,NM_001271712.1;SLC2A8,synonymous_variant,p.=,ENST00000430147,;SLC2A8,synonymous_variant,p.=,ENST00000451404,;SLC2A8,synonymous_variant,p.=,ENST00000423934,;SLC2A8,synonymous_variant,p.=,ENST00000373352,;SLC2A8,synonymous_variant,p.=,ENST00000439597,;SLC2A8,synonymous_variant,p.=,ENST00000419917,;SLC2A8,downstream_gene_variant,,ENST00000419132,;SLC2A8,non_coding_transcript_exon_variant,,ENST00000489239,;SLC2A8,upstream_gene_variant,,ENST00000485806,;SLC2A8,upstream_gene_variant,,ENST00000477027,;SLC2A8,downstream_gene_variant,,ENST00000484617,;SLC2A8,upstream_gene_variant,,ENST00000484208,;	T	ENST00000373371	Transcript	synonymous_variant	1016/2172	927/1434	309/477	A	gcG/gcT	rs747262285	1		1	SLC2A8	HGNC	HGNC:13812	protein_coding	YES	CCDS6870.1	ENSP00000362469	Q9NY64	A0A024R871	UPI000003E7A8	NM_014580.4			7/10		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR23500,hmmpanther:PTHR23500:SF157,PROSITE_patterns:PS00216,TIGRFAM_domain:TIGR00879,Gene3D:1.20.1250.20,Pfam_domain:PF00083,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		rs747262285	.												T	2	4	4	127404018	127404018	G	T	1	0	0	0	0	0	0	0	1	14821	1103	39	1		1	SLC2A8	9	127404018	Silent	SNP	G	11LU035_TP	7001162	127404018	10990699	47	1783											
INPP5E	0	.	GRCh38	chr9	136431958	136431958	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtctccaaaccagaacAcctcatcgaagcgggtggtg	12	7	11	11	2	2	2	1	1	1	1	4	3	2	2	3	2	3	0	3	2	4	0	novel		11LU035_TP	11LU035_NB	A	A																c.1415T>C	p.Val472Ala	p.V472A	ENST00000371712	7/10	412	309	103	702	700	2	strelka-varscan-mutect	INPP5E,missense_variant,p.Val472Ala,ENST00000371712,NM_001318502.1,NM_019892.4;INPP5E,downstream_gene_variant,,ENST00000635815,;	G	ENST00000371712	Transcript	missense_variant	1818/3394	1415/1935	472/644	V/A	gTg/gCg		1		-1	INPP5E	HGNC	HGNC:21474	protein_coding	YES	CCDS7000.1	ENSP00000360777	Q9NRR6		UPI000014053C	NM_001318502.1,NM_019892.4	deleterious(0)		7/10		hmmpanther:PTHR11200:SF165,hmmpanther:PTHR11200,Gene3D:3.60.10.10,Pfam_domain:PF03372,SMART_domains:SM00128,Superfamily_domains:SSF56219																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	4	136431958	136431958	A	G	1	0	0	0	0	1	0	0	0	7660	159	6	5		5	INPP5E	9	136431958	Missense_Mutation	SNP	A	11LU035_TP	9027940	136431958	1962759	48	1784											
OR52A5	0	.	GRCh38	chr11	5132262	5132262	+	Silent	SNP	G	G	T																															tgtctcaaggggatacagatGgccacatagcgatccagggc																								rs868350744		11LU035_TP	11LU035_NB	G	G																c.381C>A	p.=	p.A127A	ENST00000307388	1/1	140	112	28	190	189	1	strelka-varscan-mutect	OR52A5,synonymous_variant,p.=,ENST00000307388,NM_001005160.2;	T	ENST00000307388	Transcript	synonymous_variant	381/951	381/951	127/316	A	gcC/gcA	rs868350744	1		-1	OR52A5	HGNC	HGNC:19580	protein_coding	YES	CCDS31373.1	ENSP00000303469	Q9H2C5	A0A126GWD2	UPI0000046AEF	NM_001005160.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF48,SMART_domains:SM01381,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs868350744	.												T	2	4	4	5132262	5132262	G	T	1	0	0	0	0	0	0	0	1	11183	1335	47	2		2	OR52A5	11	5132262	Silent	SNP	G	11LU035_TP		5132262	129954360	49	1785	44	2									
OR52A5	0	.	GRCh38	chr11	5132263	5132263	+	Missense_Mutation	SNP	G	G	T																															gtctcaaggggatacagatgGccacatagcgatccagggcc																								novel		11LU035_TP	11LU035_NB	G	G																c.380C>A	p.Ala127Asp	p.A127D	ENST00000307388	1/1	137	108	29	193	192	1	strelka-varscan-mutect	OR52A5,missense_variant,p.Ala127Asp,ENST00000307388,NM_001005160.2;	T	ENST00000307388	Transcript	missense_variant	380/951	380/951	127/316	A/D	gCc/gAc		1		-1	OR52A5	HGNC	HGNC:19580	protein_coding	YES	CCDS31373.1	ENSP00000303469	Q9H2C5	A0A126GWD2	UPI0000046AEF	NM_001005160.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF48,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	4	5132263	5132263	G	T	1	0	0	0	0	1	0	0	0	11183	1203	42	2		2	OR52A5	11	5132263	Missense_Mutation	SNP	G	11LU035_TP	1	5132263	129954359	50	1786	44	2									
OR5P3	0	.	GRCh38	chr11	7825399	7825399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattatttcaaaagtaaaatCatgggaacaagcaagcttca	19	10	6	6	0	3	0	3	0	0	0	3	1	3	1	0	1	3	3	0	1	9	4			11LU035_TP	11LU035_NB	C	C																c.574G>T	p.Asp192Tyr	p.D192Y	ENST00000328375	1/1	229	216	13	275	275	0	strelka-varscan-mutect	OR5P3,missense_variant,p.Asp192Tyr,ENST00000328375,NM_153445.1;RP11-35J10.5,intron_variant,,ENST00000527565,;RP11-494M8.4,intron_variant,,ENST00000529488,;	A	ENST00000328375	Transcript	missense_variant	574/936	574/936	192/311	D/Y	Gat/Tat	COSM1703551	1		-1	OR5P3	HGNC	HGNC:14784	protein_coding	YES	CCDS7783.1	ENSP00000332068	Q8WZ94	A0A126GVE6	UPI000004B1F2	NM_153445.1	tolerated(0.19)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF310,Superfamily_domains:SSF81321											1						MODERATE		SNV			1	1										PASS		.	.												A	3	1	4	7825399	7825399	C	A	1	0	0	0	0	1	0	0	0	11248	826	29	2		2	OR5P3	11	7825399	Missense_Mutation	SNP	C	11LU035_TP	2693136	7825399	127261223	51	1787											
SAA2	0	.	GRCh38	chr11	18245478	18245478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcgagtcctccgcacCacggcctgtgagtctctgga	6	7	13	15	3	1	1	0	1	1	0	4	3	3	2	5	3	1	1	5	3	0	0	novel		11LU035_TP	11LU035_NB	C	C																c.268G>T	p.Gly90Cys	p.G90C	ENST00000526900	4/4	188	134	54	244	244	0	strelka-varscan-mutect	SAA2,missense_variant,p.Gly90Cys,ENST00000526900,;SAA2,missense_variant,p.Gly90Cys,ENST00000529528,;SAA2,missense_variant,p.Gly90Cys,ENST00000256733,NM_030754.4;SAA2,intron_variant,,ENST00000414546,NM_001127380.2;SAA2,intron_variant,,ENST00000528349,;SAA2-SAA4,intron_variant,,ENST00000524555,NM_001199744.1;SAA2,intron_variant,,ENST00000530400,;RNA5SP333,downstream_gene_variant,,ENST00000363466,;	A	ENST00000526900	Transcript	missense_variant	452/687	268/369	90/122	G/C	Ggt/Tgt		1		-1	SAA2	HGNC	HGNC:10514	protein_coding	YES	CCDS7833.1	ENSP00000436126	P0DJI9		UPI000016A553		deleterious(0)		4/4		hmmpanther:PTHR23424:SF7,hmmpanther:PTHR23424,PIRSF_domain:PIRSF002472,Pfam_domain:PF00277,SMART_domains:SM00197																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	4	18245478	18245478	C	A	1	0	0	0	0	1	0	0	0	14058	594	21	2		2	SAA2	11	18245478	Missense_Mutation	SNP	C	11LU035_TP	10420079	18245478	116841144	52	1788											
PCF11	0	.	GRCh38	chr11	83168681	83168681	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagccctcgaattgatggAcctcccacaccagcttctct	9	11	6	15	1	1	1	0	1	1	0	4	3	2	2	4	1	2	1	4	1	2	3	novel		11LU035_TP	11LU035_NB	A	A																c.2346A>T	p.=	p.G782G	ENST00000298281	8/16	401	319	82	586	585	1	strelka-varscan-mutect	PCF11,synonymous_variant,p.=,ENST00000298281,NM_015885.3;PCF11,synonymous_variant,p.=,ENST00000530660,;PCF11,synonymous_variant,p.=,ENST00000530304,;PCF11,upstream_gene_variant,,ENST00000530906,;PCF11,downstream_gene_variant,,ENST00000533018,;	T	ENST00000298281	Transcript	synonymous_variant	2798/7677	2346/4668	782/1555	G	ggA/ggT		1		1	PCF11	HGNC	HGNC:30097	protein_coding	YES	CCDS44689.1	ENSP00000298281	O94913		UPI00001BB2B7	NM_015885.3			8/16		hmmpanther:PTHR15921,hmmpanther:PTHR15921:SF3																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	4	83168681	83168681	A	T	1	0	0	0	0	0	0	0	1	11661	262	10	4		4	PCF11	11	83168681	Silent	SNP	A	11LU035_TP	64923203	83168681	51917941	53	1789											
ARID2	0	.	GRCh38	chr12	45811549	45811550	+	Frame_Shift_Ins	INS	-	-	G																															taccagcaacacagtgtgtcINSgggtaaatatcactgcaaat																								novel		11LU035_TP	11LU035_NB	-	-																c.418+1dupG			ENST00000334344	4/21	99	68	31	131	131	0	sindel-pindel	ARID2,frameshift_variant,,ENST00000334344,NM_152641.2;ARID2,splice_region_variant,,ENST00000422737,;	G	ENST00000334344	Transcript	frameshift_variant,splice_region_variant	588-589/8642	416-417/5508	139/1835	S/SX	tcg/tcGg		1		1	ARID2	HGNC	HGNC:18037	protein_coding	YES	CCDS31783.1	ENSP00000335044	Q68CP9		UPI00001D7973	NM_152641.2			4/21		hmmpanther:PTHR22970,hmmpanther:PTHR22970:SF14																	HIGH	1	insertion	1	3		1										PASS		.	.												G	7	5	4	45811549	45811549	-	G	1	0	1	1	0	0	0	0	0	1051	898	31	0		0	ARID2	12	45811549	Frame_Shift_Ins	INS	-	11LU035_TP		45811549	87463760	54	1790											
E2F7	0	.	GRCh38	chr12	77046314	77046314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttacaatgtcatagatgcGtctcctttccacacctgttt	9	16	5	11	1	2	1	1	0	1	1	4	1	3	1	3	0	2	1	3	0	3	5	novel		11LU035_TP	11LU035_NB	G	G																c.553C>T	p.Arg185Cys	p.R185C	ENST00000322886	5/13	124	85	39	135	135	0	strelka-varscan-mutect	E2F7,missense_variant,p.Arg185Cys,ENST00000322886,NM_203394.2;E2F7,missense_variant,p.Arg185Cys,ENST00000416496,;E2F7,missense_variant,p.Arg185Cys,ENST00000550669,;E2F7,missense_variant,p.Arg63Cys,ENST00000551058,;E2F7,missense_variant,p.Arg61Cys,ENST00000552907,;E2F7,non_coding_transcript_exon_variant,,ENST00000551558,;	A	ENST00000322886	Transcript	missense_variant	789/5740	553/2736	185/911	R/C	Cgc/Tgc		1		-1	E2F7	HGNC	HGNC:23820	protein_coding	YES	CCDS9016.1	ENSP00000323246	Q96AV8		UPI00001B64A1	NM_203394.2	deleterious(0)		5/13		Gene3D:1.10.10.10,Pfam_domain:PF02319,hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF25,SMART_domains:SM01372,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	4	77046314	77046314	G	A	1	0	0	0	0	1	0	0	0	4696	1145	40	1		1	E2F7	12	77046314	Missense_Mutation	SNP	G	11LU035_TP	31234765	77046314	56228995	55	1791											
SLC5A8	0	.	GRCh38	chr12	101166540	101166540	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actagtagtaaatggcatttCtgtggttgtcatcaaatttg	11	16	9	5	0	3	0	2	0	1	0	3	0	3	0	0	2	0	4	0	2	5	6			11LU035_TP	11LU035_NB	C	C																c.1480G>T	p.Glu494Ter	p.E494*	ENST00000536262	12/15	146	116	30	212	210	2	strelka-mutect	SLC5A8,stop_gained,p.Glu494Ter,ENST00000536262,NM_145913.3;	A	ENST00000536262	Transcript	stop_gained	2039/4178	1480/1833	494/610	E/*	Gaa/Taa	COSM1706091,COSM933899	1		-1	SLC5A8	HGNC	HGNC:19119	protein_coding	YES	CCDS9080.1	ENSP00000445340	Q8N695		UPI000004DAF6	NM_145913.3			12/15													1,1						HIGH	1	SNV	1		1,1	1										PASS		rs1176077061	.												A	4	1	4	101166540	101166540	C	A	1	0	0	0	0	0	1	0	0	14954	922	32	2		2	SLC5A8	12	101166540	Nonsense_Mutation	SNP	C	11LU035_TP	24120226	101166540	32108769	56	1792											
CCDC53	0	.	GRCh38	chr12	102025977	102025977	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagaagaattacttactcaAgaagatctgggtctagtcct	13	13	8	7	0	3	4	1	0	2	4	4	4	4	4	1	1	2	0	1	1	8	4	novel		11LU035_TP	11LU035_NB	A	A																c.497T>C	p.Leu166Pro	p.L166P	ENST00000240079	6/7	70	42	28	24	24	0	strelka-varscan-mutect	CCDC53,missense_variant,p.Leu166Pro,ENST00000240079,NM_016053.3;CCDC53,missense_variant,p.Leu165Pro,ENST00000545679,NM_001301107.1;CCDC53,missense_variant,p.Leu79Pro,ENST00000542923,;CCDC53,non_coding_transcript_exon_variant,,ENST00000539515,;CCDC53,missense_variant,p.Leu165Pro,ENST00000544341,;CCDC53,missense_variant,p.Leu166Pro,ENST00000540536,;CCDC53,3_prime_UTR_variant,,ENST00000535501,;CCDC53,3_prime_UTR_variant,,ENST00000538761,;CCDC53,non_coding_transcript_exon_variant,,ENST00000536197,;CCDC53,non_coding_transcript_exon_variant,,ENST00000541569,;	G	ENST00000240079	Transcript	missense_variant	659/916	497/585	166/194	L/P	cTt/cCt		1		-1	CCDC53	HGNC	HGNC:24256	protein_coding	YES	CCDS44959.1	ENSP00000240079	Q9Y3C0		UPI00001254D2	NM_016053.3	deleterious(0.03)		6/7		hmmpanther:PTHR13015,hmmpanther:PTHR13015:SF0,Pfam_domain:PF10152																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	4	102025977	102025977	A	G	1	0	0	0	0	1	0	0	0	2527	86	3	5		5	CCDC53	12	102025977	Missense_Mutation	SNP	A	11LU035_TP	859437	102025977	31249332	57	1793											
TBX5	0	.	GRCh38	chr12	114399581	114399581	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatgagaagaatgtacttCgttttgggattaaggcccgt	10	13	11	7	2	0	2	0	1	0	2	2	4	1	3	2	2	1	2	2	2	4	5	rs769736865		11LU035_TP	11LU035_NB	C	C																c.294G>A	p.=	p.T98T	ENST00000310346	4/9	522	382	140	911	911	0	strelka-varscan-mutect	TBX5,synonymous_variant,p.=,ENST00000310346,NM_000192.3;TBX5,synonymous_variant,p.=,ENST00000349716,NM_080717.2;TBX5,synonymous_variant,p.=,ENST00000405440,NM_181486.2;TBX5,synonymous_variant,p.=,ENST00000526441,;TBX5,non_coding_transcript_exon_variant,,ENST00000552726,;	T	ENST00000310346	Transcript	synonymous_variant	961/3825	294/1557	98/518	T	acG/acA	rs769736865,COSM1146914,COSM691954	1		-1	TBX5	HGNC	HGNC:11604	protein_coding	YES	CCDS9173.1	ENSP00000309913	Q99593		UPI0000136AA2	NM_000192.3			4/9		PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs769736865	.												T	2	4	4	114399581	114399581	C	T	1	0	0	0	0	0	0	0	1	16065	871	31	1		1	TBX5	12	114399581	Silent	SNP	C	11LU035_TP	12373604	114399581	18875728	58	1794											
SLC46A3	0	.	GRCh38	chr13	28717885	28717885	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatcagatgaaaaagtgtaGttgccagtttcttcccatat	12	14	7	8	0	2	2	1	1	1	1	3	2	3	2	2	0	1	3	2	0	5	6	novel		11LU035_TP	11LU035_NB	G	G																c.114C>G	p.Asn38Lys	p.N38K	ENST00000380814	2/7	174	158	16	236	236	0	strelka-varscan-mutect	SLC46A3,missense_variant,p.Asn38Lys,ENST00000266943,NM_181785.3;SLC46A3,missense_variant,p.Asn38Lys,ENST00000380814,NM_001135919.1;CYP51A1P2,downstream_gene_variant,,ENST00000419457,;	C	ENST00000380814	Transcript	missense_variant	613/2121	114/1392	38/463	N/K	aaC/aaG		1		-1	SLC46A3	HGNC	HGNC:27501	protein_coding	YES	CCDS45021.1	ENSP00000370192	Q7Z3Q1		UPI0000199D25	NM_001135919.1	deleterious(0)		2/7		Pfam_domain:PF07690,hmmpanther:PTHR23507,hmmpanther:PTHR23507:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	4	28717885	28717885	G	C	1	0	0	0	0	1	0	0	0	14923	1020	36	4		4	SLC46A3	13	28717885	Missense_Mutation	SNP	G	11LU035_TP		28717885	85646443	59	1795											
RNF219	0	.	GRCh38	chr13	78615641	78615641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctctggatttttctttttGttgattgattcacattttta	6	24	6	5	0	3	2	1	2	2	0	3	3	3	3	0	1	1	2	0	1	1	10	novel		11LU035_TP	11LU035_NB	G	G																c.2120C>A	p.Thr707Lys	p.T707K	ENST00000282003	6/6	68	63	5	141	139	2	varscan-mutect	RNF219,missense_variant,p.Thr707Lys,ENST00000282003,NM_024546.3;RNF219-AS1,intron_variant,,ENST00000606429,;RNF219-AS1,intron_variant,,ENST00000560584,;RNF219-AS1,intron_variant,,ENST00000560209,;	T	ENST00000282003	Transcript	missense_variant	2179/3529	2120/2181	707/726	T/K	aCa/aAa		1		-1	RNF219	HGNC	HGNC:20308	protein_coding	YES	CCDS31997.1	ENSP00000282003	Q5W0B1		UPI0000458868	NM_024546.3	deleterious(0)		6/6		hmmpanther:PTHR14609,hmmpanther:PTHR14609:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	4	78615641	78615641	G	T	1	0	0	0	0	1	0	0	0	13661	1377	48	2		2	RNF219	13	78615641	Missense_Mutation	SNP	G	11LU035_TP	49897756	78615641	35748687	60	1796											
RYR3	0	.	GRCh38	chr15	33742376	33742376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catttcacagtttttccttgCctgaaaaattggaatacatc	12	15	5	9	0	1	1	1	1	0	0	3	2	2	2	2	1	2	1	2	1	4	6	novel		11LU035_TP	11LU035_NB	C	C																c.7831C>A	p.Pro2611Thr	p.P2611T	ENST00000634891	52/104	176	146	30	219	218	1	strelka-mutect	RYR3,missense_variant,p.Pro2611Thr,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Pro2611Thr,ENST00000622037,;RYR3,missense_variant,p.Pro2611Thr,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Pro2610Thr,ENST00000389232,;RYR3,missense_variant,p.Pro2610Thr,ENST00000634418,;RYR3,missense_variant,p.Pro316Thr,ENST00000635790,;	A	ENST00000634891	Transcript	missense_variant	7932/15591	7831/14613	2611/4870	P/T	Cct/Act		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	tolerated(0.09)		52/104		Pfam_domain:PF02026,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	4	33742376	33742376	C	A	1	0	0	0	0	1	0	0	0	14030	739	26	2		2	RYR3	15	33742376	Missense_Mutation	SNP	C	11LU035_TP		33742376	68248813	61	1797											
FAM98B	0	.	GRCh38	chr15	38484632	38484632	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggtggtggtggtggTggaggaggtggatatagaag	7	10	24	0	0	0	1	0	0	0	1	0	4	0	4	0	11	0	0	0	11	3	2	rs777061278		11LU035_TP	11LU035_NB	T	T																c.1275T>A	p.=	p.G425G	ENST00000397609	8/8	27	23	4	172	171	1	strelka-mutect	FAM98B,missense_variant,p.Val100Glu,ENST00000559431,;FAM98B,synonymous_variant,p.=,ENST00000397609,NM_173611.3;RASGRP1,downstream_gene_variant,,ENST00000310803,NM_005739.3;RASGRP1,downstream_gene_variant,,ENST00000539159,;FAM98B,downstream_gene_variant,,ENST00000491535,;	A	ENST00000397609	Transcript	synonymous_variant	1310/4388	1275/1302	425/433	G	ggT/ggA	rs777061278,COSM186674	1		1	FAM98B	HGNC	HGNC:26773	protein_coding	YES	CCDS10047.2	ENSP00000380734	Q52LJ0		UPI0000DA182F	NM_173611.3			8/8		Low_complexity_(Seg):seg,hmmpanther:PTHR31353:SF11,hmmpanther:PTHR31353,Prints_domain:PR01228											0,1						LOW		SNV	5		0,1	1										PASS		rs777061278	.												A	2	1	4	38484632	38484632	T	A	1	0	0	0	0	0	0	0	1	5515	1683	59	4		4	FAM98B	15	38484632	Silent	SNP	T	11LU035_TP	4742256	38484632	63506557	62	1798											
BUB1B	0	.	GRCh38	chr15	40170575	40170575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagaactatcctcaaggtgGgaaggagagtaatatgtcaa	15	8	12	6	0	2	2	2	0	0	2	3	4	3	3	1	3	1	2	1	3	7	3	novel		11LU035_TP	11LU035_NB	G	G																c.278G>A	p.Gly93Glu	p.G93E	ENST00000287598	4/23	372	265	107	404	404	0	strelka-varscan-mutect	BUB1B,missense_variant,p.Gly93Glu,ENST00000287598,NM_001211.5;BUB1B,missense_variant,p.Gly107Glu,ENST00000412359,;BUB1B,splice_region_variant,,ENST00000559414,;BUB1B,non_coding_transcript_exon_variant,,ENST00000560120,;BUB1B,3_prime_UTR_variant,,ENST00000558715,;	A	ENST00000287598	Transcript	missense_variant	473/3725	278/3153	93/1050	G/E	gGg/gAg		1		1	BUB1B	HGNC	HGNC:1149	protein_coding	YES	CCDS10053.1	ENSP00000287598	O60566		UPI000006E699	NM_001211.5	deleterious(0)		4/23		PROSITE_profiles:PS51489,hmmpanther:PTHR14030:SF4,hmmpanther:PTHR14030,Pfam_domain:PF08311,SMART_domains:SM00777																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	4	40170575	40170575	G	A	1	0	0	0	0	1	0	0	0	1747	1232	43	3		3	BUB1B	15	40170575	Missense_Mutation	SNP	G	11LU035_TP	1685943	40170575	61820614	63	1799											
FBN1	0	.	GRCh38	chr15	48463972	48463972	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtagttgccaacggtgttGtaacatgtccctggaccaca	9	11	11	10	1	0	0	0	0	0	0	1	1	1	1	3	2	3	4	3	2	3	4	novel		11LU035_TP	11LU035_NB	G	G																c.4992C>T	p.=	p.Y1664Y	ENST00000316623	41/66	411	353	58	527	527	0	strelka-varscan-mutect	FBN1,synonymous_variant,p.=,ENST00000316623,NM_000138.4;FBN1,synonymous_variant,p.=,ENST00000559133,;FBN1,3_prime_UTR_variant,,ENST00000537463,;	A	ENST00000316623	Transcript	synonymous_variant	5448/11756	4992/8616	1664/2871	Y	taC/taT		1		-1	FBN1	HGNC	HGNC:3603	protein_coding	YES	CCDS32232.1	ENSP00000325527	P35555		UPI0000EE4EBC	NM_000138.4			41/66		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	4	48463972	48463972	G	A	1	0	0	0	0	0	0	0	1	5565	1372	48	3		3	FBN1	15	48463972	Silent	SNP	G	11LU035_TP	8293397	48463972	53527217	64	1800											
AP4E1	0	.	GRCh38	chr15	50997788	50997788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcttataaaatttggaaaGatgattgtttattgatggtc	12	18	8	3	0	1	3	0	2	1	1	2	4	1	4	0	2	0	1	0	2	5	8	novel		11LU035_TP	11LU035_NB	G	G																c.2809G>A	p.Asp937Asn	p.D937N	ENST00000261842	18/21	45	37	8	64	64	0	strelka-varscan-mutect	AP4E1,missense_variant,p.Asp937Asn,ENST00000261842,NM_007347.4;AP4E1,missense_variant,p.Asp862Asn,ENST00000560508,NM_001252127.1;AP4E1,non_coding_transcript_exon_variant,,ENST00000561397,;AP4E1,3_prime_UTR_variant,,ENST00000558439,;AP4E1,3_prime_UTR_variant,,ENST00000561393,;	A	ENST00000261842	Transcript	missense_variant	2915/6758	2809/3414	937/1137	D/N	Gat/Aat		1		1	AP4E1	HGNC	HGNC:573	protein_coding	YES	CCDS32240.1	ENSP00000261842	Q9UPM8		UPI00001D89D8	NM_007347.4	tolerated(0.06)		18/21		PIRSF_domain:PIRSF037097																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	4	50997788	50997788	G	A	1	0	0	0	0	1	0	0	0	868	942	33	3		3	AP4E1	15	50997788	Missense_Mutation	SNP	G	11LU035_TP	2533816	50997788	50993401	65	1801											
IQCH	0	.	GRCh38	chr15	67388913	67388913	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaaaaaaatcctaagtctAcatgcagccgtcaaatctgg	16	9	6	10	1	3	0	1	0	2	0	4	0	4	0	2	1	4	1	2	1	7	3	novel		11LU035_TP	11LU035_NB	A	A																c.1539A>G	p.=	p.L513L	ENST00000335894	12/21	209	175	34	209	208	1	strelka-varscan-mutect	IQCH,synonymous_variant,p.=,ENST00000335894,NM_001031715.2;IQCH,synonymous_variant,p.=,ENST00000546225,NM_001284347.1;IQCH,synonymous_variant,p.=,ENST00000358767,NM_001284348.1;IQCH,synonymous_variant,p.=,ENST00000561357,;IQCH,3_prime_UTR_variant,,ENST00000514049,;	G	ENST00000335894	Transcript	synonymous_variant	1605/4208	1539/3084	513/1027	L	ctA/ctG		1		1	IQCH	HGNC	HGNC:25721	protein_coding	YES	CCDS32273.1	ENSP00000336861	Q86VS3		UPI000013CCE9	NM_001031715.2			12/21		hmmpanther:PTHR14465:SF0,hmmpanther:PTHR14465																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	4	67388913	67388913	A	G	1	0	0	0	0	0	0	0	1	7717	378	14	5		5	IQCH	15	67388913	Silent	SNP	A	11LU035_TP	16391125	67388913	34602276	66	1802											
BNC1	0	.	GRCh38	chr15	83264551	83264551	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgttgcttatgaggttctCaaaggggtgtatactgctgg	8	14	13	6	0	1	1	1	1	1	0	2	1	1	1	0	4	3	5	0	4	4	5	novel		11LU035_TP	11LU035_NB	C	C																c.700G>T	p.Glu234Ter	p.E234*	ENST00000345382	4/5	151	112	39	287	286	1	strelka-varscan-mutect	BNC1,stop_gained,p.Glu234Ter,ENST00000345382,NM_001717.3;BNC1,stop_gained,p.Glu227Ter,ENST00000569704,NM_001301206.1;RP11-382A20.4,intron_variant,,ENST00000565495,;	A	ENST00000345382	Transcript	stop_gained	786/4610	700/2985	234/994	E/*	Gag/Tag		1		-1	BNC1	HGNC	HGNC:1081	protein_coding	YES	CCDS10324.1	ENSP00000307041	Q01954		UPI0000126796	NM_001717.3			4/5		hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	4	83264551	83264551	C	A	1	0	0	0	0	0	1	0	0	1630	835	29	2		2	BNC1	15	83264551	Nonsense_Mutation	SNP	C	11LU035_TP	15875638	83264551	18726638	67	1803											
RAB40C	0	.	GRCh38	chr16	590408	590408	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgcaggacggcgcggcAgagtccccgtacgcctacag	8	4	14	15	5	0	1	0	0	0	1	1	2	1	2	4	3	4	3	4	3	2	2	rs200787887		11LU035_TP	11LU035_NB	A	A																c.117A>C	p.=	p.A39A	ENST00000535977	2/7	236	223	13	572	568	4	varscan-mutect	RAB40C,synonymous_variant,p.=,ENST00000535977,NM_001172663.1;RAB40C,synonymous_variant,p.=,ENST00000248139,NM_021168.4;RAB40C,synonymous_variant,p.=,ENST00000539661,NM_001172664.1;RAB40C,synonymous_variant,p.=,ENST00000538492,NM_001172665.1,NM_001172666.1;RAB40C,synonymous_variant,p.=,ENST00000566290,;RAB40C,synonymous_variant,p.=,ENST00000563109,;RAB40C,synonymous_variant,p.=,ENST00000569575,;RAB40C,synonymous_variant,p.=,ENST00000568586,;RAB40C,synonymous_variant,p.=,ENST00000565511,;RAB40C,synonymous_variant,p.=,ENST00000509637,;	C	ENST00000535977	Transcript	synonymous_variant	339/2717	117/846	39/281	A	gcA/gcC	rs200787887,COSM5091560	1		1	RAB40C	HGNC	HGNC:18285	protein_coding	YES	CCDS10413.1	ENSP00000438492	Q96S21		UPI0000133002	NM_001172663.1			2/7		PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF365,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540											0,1						LOW	1	SNV	5		0,1	1										PASS		rs200787887	.												C	2	2	4	590408	590408	A	C	1	0	0	0	0	0	0	0	1	13101	175	7	5		5	RAB40C	16	590408	Silent	SNP	A	11LU035_TP		590408	89747937	68	1804											
SEPT1	0	.	GRCh38	chr16	30378455	30378455	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagggcgtctgactgctcGccctgggcctggctctgctg	3	9	15	14	2	2	2	0	1	2	1	3	2	2	2	2	3	2	3	2	3	0	0	rs779596462		11LU035_TP	11LU035_NB	G	G																c.1224C>T	p.=	p.G408G	ENST00000321367	12/12	22	16	6	114	114	0	strelka-varscan-mutect	SEPT1,synonymous_variant,p.=,ENST00000321367,NM_052838.4;ZNF48,intron_variant,,ENST00000528032,;ZNF48,intron_variant,,ENST00000495929,;MYLPF,downstream_gene_variant,,ENST00000322861,NM_013292.3;MYLPF,downstream_gene_variant,,ENST00000568749,;MYLPF,downstream_gene_variant,,ENST00000566955,;MYLPF,downstream_gene_variant,,ENST00000563718,;SEPT1,downstream_gene_variant,,ENST00000570039,;SEPT1,downstream_gene_variant,,ENST00000567783,;RP11-297C4.6,downstream_gene_variant,,ENST00000624127,;SEPT1,3_prime_UTR_variant,,ENST00000572252,;SEPT1,non_coding_transcript_exon_variant,,ENST00000563957,;SEPT1,non_coding_transcript_exon_variant,,ENST00000573615,;SEPT1,downstream_gene_variant,,ENST00000566517,;SEPT1,downstream_gene_variant,,ENST00000568577,;SEPT1,downstream_gene_variant,,ENST00000563743,;SEPT1,downstream_gene_variant,,ENST00000562152,;MYLPF,downstream_gene_variant,,ENST00000563728,;	A	ENST00000321367	Transcript	synonymous_variant	1270/1592	1224/1245	408/414	G	ggC/ggT	rs779596462,COSM4623311	1		-1	SEPT1	HGNC	HGNC:2879	protein_coding	YES	CCDS10678.3	ENSP00000324511		J3KNL2	UPI000066D948	NM_052838.4			12/12		Low_complexity_(Seg):seg,PIRSF_domain:PIRSF006698											0,1						LOW		SNV	5		0,1	1										PASS		rs779596462	.												A	2	1	4	30378455	30378455	G	A	1	0	0	0	0	0	0	0	1	14335	1074	38	1		1	SEPT1	16	30378455	Silent	SNP	G	11LU035_TP	29788047	30378455	59959890	69	1805											
TP53	0	.	GRCh38	chr17	7670699	7670699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctcggaacatctcgaagCgctcacgcccacggatctgc	8	7	10	16	5	4	0	1	0	3	0	6	3	4	2	1	2	3	2	1	2	2	0	rs121912664		11LU035_TP	11LU035_NB	C	C																c.1010G>T	p.Arg337Leu	p.R337L	ENST00000269305	10/11	242	194	48	502	502	0	strelka-varscan-mutect	TP53,missense_variant,p.Arg298Leu,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg337Leu,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Arg298Leu,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Arg337Leu,ENST00000445888,;TP53,missense_variant,p.Arg298Leu,ENST00000619485,;TP53,missense_variant,p.Arg205Leu,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Arg178Leu,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Arg326Leu,ENST00000615910,;TP53,3_prime_UTR_variant,,ENST00000617185,NM_001126114.2;TP53,3_prime_UTR_variant,,ENST00000420246,;TP53,3_prime_UTR_variant,,ENST00000622645,NM_001276696.1;TP53,3_prime_UTR_variant,,ENST00000455263,NM_001126113.2;TP53,3_prime_UTR_variant,,ENST00000610538,NM_001276695.1;TP53,3_prime_UTR_variant,,ENST00000510385,NM_001126116.1;TP53,3_prime_UTR_variant,,ENST00000618944,NM_001276698.1;TP53,3_prime_UTR_variant,,ENST00000504290,NM_001126117.1;TP53,3_prime_UTR_variant,,ENST00000610623,NM_001276699.1;TP53,intron_variant,,ENST00000359597,;TP53,intron_variant,,ENST00000413465,;TP53,intron_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Arg298Leu,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	1200/2579	1010/1182	337/393	R/L	cGc/cTc	rs121912664,CM012663,CM104660,TP53_g.16901G>A,TP53_g.16901G>T,TP53_g.16901G>C,COSM11411,COSM131485,COSM220135,COSM378685,COSM378686,COSM43882	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0.01)		10/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:1olgA00,Pfam_domain:PF07710,Superfamily_domains:SSF47719,Prints_domain:PR00386										likely_pathogenic,pathogenic	0,0,0,0,0,0,1,1,1,1,1,1	2303263727081505					MODERATE	1	SNV	1		1,1,1,0,0,0,1,1,1,1,1,1	1										PASS		rs121912664	.												A	3	1	4	7670699	7670699	C	A	1	0	0	0	0	1	0	0	0	16859	768	27	1		1	TP53	17	7670699	Missense_Mutation	SNP	C	11LU035_TP		7670699	75586742	70	1806											
MYH13	0	.	GRCh38	chr17	10345294	10345294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtactcttcctgctccaGcacgaacatgtggtggttga	7	13	10	11	1	1	1	0	1	1	0	3	2	3	1	2	2	4	4	2	2	2	4	novel		11LU035_TP	11LU035_NB	G	G																c.1492C>A	p.Leu498Met	p.L498M	ENST00000418404	14/41	479	434	45	848	847	1	varscan-mutect	MYH13,missense_variant,p.Leu498Met,ENST00000418404,;MYH13,missense_variant,p.Leu498Met,ENST00000252172,NM_003802.2;MYH13,missense_variant,p.Leu498Met,ENST00000621918,;RP11-401O9.3,downstream_gene_variant,,ENST00000577743,;	T	ENST00000418404	Transcript	missense_variant	1656/6296	1492/5817	498/1938	L/M	Ctg/Atg		1		-1	MYH13	HGNC	HGNC:7571	protein_coding	YES	CCDS45613.1	ENSP00000404570	Q9UKX3		UPI0000DB39EA		deleterious(0)		14/41		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF504,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	4	10345294	10345294	G	T	1	0	0	0	0	1	0	0	0	10032	962	34	2		2	MYH13	17	10345294	Missense_Mutation	SNP	G	11LU035_TP	2674595	10345294	72912147	71	1807											
KRT26	0	.	GRCh38	chr17	40771731	40771731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagtcatgatcgtgttccCgggaagagccaggctcacat	10	10	11	10	2	2	2	2	1	0	1	4	3	3	3	2	2	1	2	2	2	3	3	rs764983838		11LU035_TP	11LU035_NB	C	C																c.383G>A	p.Arg128Gln	p.R128Q	ENST00000335552	1/8	213	117	96	213	213	0	strelka-varscan-mutect	KRT26,missense_variant,p.Arg128Gln,ENST00000335552,NM_181539.4;	T	ENST00000335552	Transcript	missense_variant	432/1733	383/1407	128/468	R/Q	cGg/cAg	rs764983838,COSM5055454	1		-1	KRT26	HGNC	HGNC:30840	protein_coding	YES	CCDS11374.1	ENSP00000334798	Q7Z3Y9		UPI0000200C8F	NM_181539.4	tolerated(0.07)		1/8		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF162,SMART_domains:SM01391											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs764983838	.												T	3	4	4	40771731	40771731	C	T	1	0	0	0	0	1	0	0	0	8345	652	23	1		1	KRT26	17	40771731	Missense_Mutation	SNP	C	11LU035_TP	30426437	40771731	42485710	72	1808											
BAHCC1	0	.	GRCh38	chr17	81443430	81443430	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagcacgacaccacgcacgGcgacggggaggtgcggcagc	9	1	18	13	6	0	0	0	0	0	0	0	4	0	2	1	6	3	3	1	6	0	0			11LU035_TP	11LU035_NB	G	G																c.2081G>T	p.Gly694Val	p.G694V	ENST00000584436	5/29	113	56	57	187	187	0	strelka-varscan-mutect	BAHCC1,missense_variant,p.Gly694Val,ENST00000584436,NM_001291324.1;BAHCC1,missense_variant,p.Gly694Val,ENST00000307745,;BAHCC1,upstream_gene_variant,,ENST00000585224,;	T	ENST00000584436	Transcript	missense_variant	2448/10801	2081/7920	694/2639	G/V	gGc/gTc	COSM4447924	1		1	BAHCC1	HGNC	HGNC:29279	protein_coding	YES	CCDS74173.1	ENSP00000462154		A0A075B747	UPI0003EAE637	NM_001291324.1	tolerated(0.08)		5/29		hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	4	81443430	81443430	G	T	1	0	0	0	0	1	0	0	0	1451	1203	42	2		2	BAHCC1	17	81443430	Missense_Mutation	SNP	G	11LU035_TP	40671699	81443430	1814011	73	1809											
PIEZO2	0	.	GRCh38	chr18	10715800	10715800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatttcaaaatattaaatatCctcttgatgatattatctag	16	17	3	5	0	3	2	1	2	2	0	4	2	4	2	1	0	0	0	1	0	10	8	novel		11LU035_TP	11LU035_NB	C	C																c.4932G>T	p.Arg1644Ser	p.R1644S	ENST00000503781	35/52	78	73	5	97	97	0	strelka-varscan-mutect	PIEZO2,missense_variant,p.Arg1595Ser,ENST00000383408,;PIEZO2,missense_variant,p.Arg1644Ser,ENST00000302079,;PIEZO2,missense_variant,p.Arg1669Ser,ENST00000580640,;PIEZO2,missense_variant,p.Arg1644Ser,ENST00000503781,NM_022068.3;PIEZO2,3_prime_UTR_variant,,ENST00000582913,;	A	ENST00000503781	Transcript	missense_variant	4932/8259	4932/8259	1644/2752	R/S	agG/agT		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3	deleterious(0)		35/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	4	10715800	10715800	C	A	1	0	0	0	0	1	0	0	0	11975	854	30	2		2	PIEZO2	18	10715800	Missense_Mutation	SNP	C	11LU035_TP		10715800	69657485	74	1810											
CLEC4M	0	.	GRCh38	chr19	7765983	7765983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctaccaggagctgacccGgctgaaggctgcagtgggtg	8	7	16	10	1	1	2	0	2	1	0	1	4	1	3	2	4	3	4	2	4	2	1	rs28413926		11LU035_TP	11LU035_NB	G	G																c.560G>A	p.Arg187Gln	p.R187Q	ENST00000327325	4/7	220	204	16	393	389	4	varscan-mutect	CLEC4M,missense_variant,p.Arg187Gln,ENST00000327325,NM_001144909.1,NM_001144905.1,NM_001144910.1,NM_014257.4;CLEC4M,missense_variant,p.Arg175Gln,ENST00000394122,;CLEC4M,missense_variant,p.Arg164Gln,ENST00000248228,;CLEC4M,missense_variant,p.Arg136Gln,ENST00000334806,NM_001144904.1;CLEC4M,missense_variant,p.Arg143Gln,ENST00000359059,NM_001144907.1;CLEC4M,missense_variant,p.Arg159Gln,ENST00000596363,NM_001144911.1;CLEC4M,missense_variant,p.Arg166Gln,ENST00000596707,;CLEC4M,missense_variant,p.Arg159Gln,ENST00000595751,;CLEC4M,intron_variant,,ENST00000597522,NM_001144908.1;CLEC4M,intron_variant,,ENST00000595496,NM_001144906.1;CLEC4M,non_coding_transcript_exon_variant,,ENST00000601089,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000598879,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000599333,;CLEC4M,upstream_gene_variant,,ENST00000602143,;	A	ENST00000327325	Transcript	missense_variant	678/1935	560/1200	187/399	R/Q	cGg/cAg	rs28413926	1		1	CLEC4M	HGNC	HGNC:13523	protein_coding	YES	CCDS12187.1	ENSP00000316228	Q9H2X3		UPI0000073C48	NM_001144909.1,NM_001144905.1,NM_001144910.1,NM_014257.4	tolerated(1)		4/7		hmmpanther:PTHR22802:SF244,hmmpanther:PTHR22802																	MODERATE	1	SNV	1			1										PASS		rs28413926	.												A	3	1	4	7765983	7765983	G	A	1	0	0	0	0	1	0	0	0	3286	1116	39	1		1	CLEC4M	19	7765983	Missense_Mutation	SNP	G	11LU035_TP		7765983	50851633	75	1811											
ZNF729	0	.	GRCh38	chr19	22315931	22315931	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttttaagcatttctcagcCcttagaaaacataaggtaat	14	13	6	8	0	1	1	1	0	1	1	2	1	1	1	1	1	3	3	1	1	6	6	novel		11LU035_TP	11LU035_NB	C	C																c.2514C>A	p.=	p.A838A	ENST00000601693	4/4	257	216	41	372	371	1	strelka-varscan-mutect	ZNF729,synonymous_variant,p.=,ENST00000601693,NM_001242680.1;	A	ENST00000601693	Transcript	synonymous_variant	2632/3877	2514/3759	838/1252	A	gcC/gcA		1		1	ZNF729	HGNC	HGNC:32464	protein_coding	YES	CCDS59368.1	ENSP00000469582	A6NN14		UPI000042600C	NM_001242680.1			4/4		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	4	22315931	22315931	C	A	1	0	0	0	0	0	0	0	1	18703	610	22	2		2	ZNF729	19	22315931	Silent	SNP	C	11LU035_TP	14549948	22315931	36301685	76	1812											
TSHZ3	0	.	GRCh38	chr19	31278897	31278897	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggcactttttggtagTgttttgttttgatcatatgg	7	19	11	4	0	2	2	2	1	0	1	2	2	2	2	0	3	0	4	0	3	2	8	novel		11LU035_TP	11LU035_NB	T	T																c.896A>T	p.His299Leu	p.H299L	ENST00000240587	2/2	204	164	40	340	340	0	strelka-varscan-mutect	TSHZ3,missense_variant,p.His299Leu,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;	A	ENST00000240587	Transcript	missense_variant	1224/5176	896/3246	299/1081	H/L	cAc/cTc		1		-1	TSHZ3	HGNC	HGNC:30700	protein_coding	YES	CCDS12421.2	ENSP00000240587	Q63HK5		UPI0000202000	NM_020856.2	deleterious(0)		2/2		PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5,SMART_domains:SM00355																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	4	31278897	31278897	T	A	1	0	0	0	0	1	0	0	0	17130	1696	59	4		4	TSHZ3	19	31278897	Missense_Mutation	SNP	T	11LU035_TP	8962966	31278897	27338719	77	1813											
MAP3K10	0	.	GRCh38	chr19	40198492	40198492	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgagcgctgcggggacctAcgcctggatggcgccggagg	6	5	19	11	5	0	1	0	1	0	0	0	5	0	4	3	6	3	1	3	6	1	1	novel		11LU035_TP	11LU035_NB	A	A																c.800A>G	p.Tyr267Cys	p.Y267C	ENST00000253055	2/10	127	97	30	258	258	0	strelka-varscan-mutect	MAP3K10,missense_variant,p.Tyr267Cys,ENST00000253055,NM_002446.3;MAP3K10,non_coding_transcript_exon_variant,,ENST00000593906,;MAP3K10,missense_variant,p.Tyr17Cys,ENST00000597986,;MAP3K10,missense_variant,p.Tyr33Cys,ENST00000594951,;MAP3K10,synonymous_variant,p.=,ENST00000593502,;	G	ENST00000253055	Transcript	missense_variant	1088/3436	800/2865	267/954	Y/C	tAc/tGc		1		1	MAP3K10	HGNC	HGNC:6849	protein_coding	YES	CCDS12549.1	ENSP00000253055	Q02779		UPI000013CDAC	NM_002446.3	deleterious(0)		2/10		PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF515,Pfam_domain:PF07714,PIRSF_domain:PIRSF000556,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR00109																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	4	40198492	40198492	A	G	1	0	0	0	0	1	0	0	0	9166	391	14	5		5	MAP3K10	19	40198492	Missense_Mutation	SNP	A	11LU035_TP	8919595	40198492	18419124	78	1814											
ERVV-2	0	.	GRCh38	chr19	53050087	53050088	+	Frame_Shift_Ins	INS	-	-	T																															ataacctattcaacccccccINStgtggcaaacctctacactt																								novel		11LU035_TP	11LU035_NB	-	-																c.837dupT	p.Val280CysfsTer9	p.V280Cfs*9	ENST00000601417	2/2	377	287	90	790	788	2	sindel-varindel-pindel	ERVV-2,frameshift_variant,p.Val280CysfsTer9,ENST00000601417,NM_001191055.1;	T	ENST00000601417	Transcript	frameshift_variant	1442-1443/2431	836-837/1608	279/535	P/PX	cct/ccTt		1		1	ERVV-2	HGNC	HGNC:39051	protein_coding	YES	CCDS59420.1	ENSP00000472919	B6SEH9	M9QSX5	UPI00018258B9	NM_001191055.1			2/2		hmmpanther:PTHR10424,hmmpanther:PTHR10424:SF8																	HIGH	1	insertion	4	1		1										PASS		.	.												T	7	5	4	53050087	53050087	-	T	1	0	1	1	0	0	0	0	0	5107	681	24	0		0	ERVV-2	19	53050087	Frame_Shift_Ins	INS	-	11LU035_TP	12851595	53050087	5567529	79	1815											
RFPL4A	0	.	GRCh38	chr19	55762942	55762942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgactcctctctgggtgagtCcccagttgcacagagtgggg	6	10	14	11	0	1	3	0	2	1	1	4	3	3	3	3	3	1	2	3	3	0	1	novel		11LU035_TP	11LU035_NB	C	C																c.631C>T	p.Pro211Ser	p.P211S	ENST00000434937	3/3	852	777	75	1183	1183	0	varscan-mutect	RFPL4A,missense_variant,p.Pro211Ser,ENST00000434937,NM_001145014.1;	T	ENST00000434937	Transcript	missense_variant	802/1035	631/864	211/287	P/S	Ccc/Tcc		1		1	RFPL4A	HGNC	HGNC:16449	protein_coding	YES	CCDS46201.1	ENSP00000392936	A6NLU0		UPI0000D6181F	NM_001145014.1	tolerated(0.06)		3/3		PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF228,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407																	MODERATE	1	SNV	5			1										PASS		rs1225164085	.												T	3	4	4	55762942	55762942	C	T	1	0	0	0	0	1	0	0	0	13428	855	30	3		3	RFPL4A	19	55762942	Missense_Mutation	SNP	C	11LU035_TP	2712855	55762942	2854674	80	1816											
ZSCAN1	0	.	GRCh38	chr19	58037930	58037930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgggccagcaagccccAgggacaccgaagcccagcgt	10	2	12	17	2	0	0	0	0	0	0	0	2	0	1	6	2	4	1	6	2	2	0	novel		11LU035_TP	11LU035_NB	A	A																c.94A>G	p.Arg32Gly	p.R32G	ENST00000282326	3/6	117	85	32	226	226	0	strelka-varscan-mutect	ZSCAN1,missense_variant,p.Arg32Gly,ENST00000282326,NM_182572.3;ZSCAN1,missense_variant,p.Arg32Gly,ENST00000391700,;ZSCAN1,missense_variant,p.Arg32Gly,ENST00000601162,;	G	ENST00000282326	Transcript	missense_variant	341/2054	94/1227	32/408	R/G	Agg/Ggg		1		1	ZSCAN1	HGNC	HGNC:23712	protein_coding	YES	CCDS12969.1	ENSP00000282326	Q8NBB4		UPI000013DCD2	NM_182572.3	tolerated(1)		3/6		hmmpanther:PTHR10032:SF187,hmmpanther:PTHR10032,Superfamily_domains:SSF47353																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	4	58037930	58037930	A	G	1	0	0	0	0	1	0	0	0	18820	179	7	5		5	ZSCAN1	19	58037930	Missense_Mutation	SNP	A	11LU035_TP	2274988	58037930	579686	81	1817											
HAO1	0	.	GRCh38	chr20	7934534	7934534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccatgcgctgcatggccGtagcccccacacatattggc	8	7	11	15	2	0	0	0	0	0	0	0	1	0	0	4	2	4	3	4	2	2	3	rs758462740		11LU035_TP	11LU035_NB	G	G																c.239C>T	p.Thr80Met	p.T80M	ENST00000378789	2/8	180	168	12	286	285	1	strelka-varscan-mutect	HAO1,missense_variant,p.Thr80Met,ENST00000378789,NM_017545.2;	A	ENST00000378789	Transcript	missense_variant	291/1777	239/1113	80/370	T/M	aCg/aTg	rs758462740,COSM4689467	1		-1	HAO1	HGNC	HGNC:4809	protein_coding	YES	CCDS13100.1	ENSP00000368066	Q9UJM8	A8K058	UPI000012C08B	NM_017545.2	deleterious(0.01)		2/8		PROSITE_profiles:PS51349,hmmpanther:PTHR10578,Gene3D:3.20.20.70,PIRSF_domain:PIRSF000138,Pfam_domain:PF01070,Superfamily_domains:SSF51395											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs758462740	.												A	3	1	4	7934534	7934534	G	A	1	0	0	0	0	1	0	0	0	6837	1145	40	1		1	HAO1	20	7934534	Missense_Mutation	SNP	G	11LU035_TP		7934534	56509633	82	1818											
SLC9A8	0	.	GRCh38	chr20	49883952	49883952	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtcatcgtgctcttcacCatcctgctgctgggcggcag	5	11	11	14	3	3	0	2	0	1	0	6	0	4	0	2	2	3	4	2	2	0	1	novel		11LU035_TP	11LU035_NB	C	C																c.1425C>T	p.=	p.T475T	ENST00000417961	14/16	359	328	31	690	690	0	strelka-varscan-mutect	SLC9A8,synonymous_variant,p.=,ENST00000417961,NM_001260491.1;SLC9A8,synonymous_variant,p.=,ENST00000361573,NM_015266.2;SLC9A8,upstream_gene_variant,,ENST00000490250,;	T	ENST00000417961	Transcript	synonymous_variant	1635/6309	1425/1794	475/597	T	acC/acT		1		1	SLC9A8	HGNC	HGNC:20728	protein_coding	YES	CCDS58774.1	ENSP00000416418	Q9Y2E8		UPI00017A7E08	NM_001260491.1			14/16		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF122,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	4	49883952	49883952	C	T	1	0	0	0	0	0	0	0	1	15002	581	21	3		3	SLC9A8	20	49883952	Silent	SNP	C	11LU035_TP	41949418	49883952	14560215	83	1819											
PRELID3B	0	.	GRCh38	chr20	59038608	59038608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggtatttctgcattgcaGctgttgtaacagtttcccac	7	16	9	9	0	1	0	0	0	1	0	2	0	2	0	1	1	4	7	1	1	2	7	novel		11LU035_TP	11LU035_NB	G	G																c.59C>T	p.Ala20Val	p.A20V	ENST00000355937	2/6	113	107	6	146	145	1	varscan-mutect	PRELID3B,missense_variant,p.Ala20Val,ENST00000355937,NM_016045.2;PRELID3B,missense_variant,p.Ala20Val,ENST00000371033,NM_001256403.1;PRELID3B,missense_variant,p.Ala20Val,ENST00000463057,;PRELID3B,non_coding_transcript_exon_variant,,ENST00000466051,;	A	ENST00000355937	Transcript	missense_variant	238/2626	59/585	20/194	A/V	gCt/gTt		1		-1	PRELID3B	HGNC	HGNC:15892	protein_coding	YES	CCDS42893.1	ENSP00000348206	Q9Y3B1		UPI00001285DF	NM_016045.2	deleterious(0.03)		2/6		PROSITE_profiles:PS50904,hmmpanther:PTHR11158:SF22,hmmpanther:PTHR11158,Pfam_domain:PF04707																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	4	59038608	59038608	G	A	1	0	0	0	0	1	0	0	0	12606	971	34	3		3	PRELID3B	20	59038608	Missense_Mutation	SNP	G	11LU035_TP	9154656	59038608	5405559	84	1820											
KRTAP13-4	0	.	GRCh38	chr21	30430332	30430332	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctcctttgggggctacctGtactacccaggctcctaccc	5	10	9	17	1	0	0	0	0	0	0	2	0	2	0	5	3	4	4	5	3	4	5	novel		11LU035_TP	11LU035_NB	G	G																c.57G>A	p.=	p.L19L	ENST00000334068	1/1	105	96	9	157	157	0	strelka-varscan-mutect	KRTAP13-4,synonymous_variant,p.=,ENST00000334068,NM_181600.1;KRTAP13-3,upstream_gene_variant,,ENST00000390690,NM_181622.1;	A	ENST00000334068	Transcript	synonymous_variant	103/797	57/483	19/160	L	ctG/ctA		1		1	KRTAP13-4	HGNC	HGNC:18926	protein_coding	YES	CCDS13592.1	ENSP00000334834	Q3LI77		UPI000003B46D	NM_181600.1			1/1		hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF10,Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		.	.												A	2	1	4	30430332	30430332	G	A	1	0	0	0	0	0	0	0	1	8408	1364	48	3		3	KRTAP13-4	21	30430332	Silent	SNP	G	11LU035_TP		30430332	16279651	85	1821											
KRTAP10-4	0	.	GRCh38	chr21	44574309	44574309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgagctgtgtgtccaGcccctgctgccaggcggtct	3	11	14	13	1	1	1	0	1	1	0	2	1	2	1	4	2	4	2	4	2	0	0	novel		11LU035_TP	11LU035_NB	G	G																c.551G>T	p.Ser184Ile	p.S184I	ENST00000400374	1/1	782	729	53	1415	1414	1	varscan-mutect	KRTAP10-4,missense_variant,p.Ser184Ile,ENST00000400374,NM_198687.2;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,upstream_gene_variant,,ENST00000397916,;	T	ENST00000400374	Transcript	missense_variant	581/1643	551/1206	184/401	S/I	aGc/aTc		1		1	KRTAP10-4	HGNC	HGNC:20521	protein_coding	YES	CCDS42957.1	ENSP00000383225	P60372		UPI00003D4D6E	NM_198687.2	tolerated(0.09)		1/1		Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												T	3	4	4	44574309	44574309	G	T	1	0	0	0	0	1	0	0	0	8394	971	34	2		2	KRTAP10-4	21	44574309	Missense_Mutation	SNP	G	11LU035_TP	14143977	44574309	2135674	86	1822											
KRTAP10-6	0	.	GRCh38	chr21	44591934	44591934	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccgcctggcagcaggggCtggacacacagctcacacag	11	3	13	14	1	1	1	1	0	0	1	1	2	1	2	2	4	2	4	2	4	0	0	novel		11LU035_TP	11LU035_NB	C	C																c.551G>T	p.Ser184Ile	p.S184I	ENST00000400368	1/1	540	483	57	977	976	1	varscan-mutect	KRTAP10-6,missense_variant,p.Ser184Ile,ENST00000400368,NM_198688.3;KRTAP10-6,missense_variant,p.Ser179Ile,ENST00000622352,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;	A	ENST00000400368	Transcript	missense_variant	572/1238	551/1098	184/365	S/I	aGc/aTc		1		-1	KRTAP10-6	HGNC	HGNC:20523	protein_coding	YES	CCDS42959.1	ENSP00000383219	P60371		UPI000021C43D	NM_198688.3	tolerated(0.08)		1/1		Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												A	3	1	4	44591934	44591934	C	A	1	0	0	0	0	1	0	0	0	8396	797	28	2		2	KRTAP10-6	21	44591934	Missense_Mutation	SNP	C	11LU035_TP	17625	44591934	2118049	87	1823											
ARFGAP3	0	.	GRCh38	chr22	42817234	42817234	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattcctgctctatggtctgCatatctgaagtcactgaatg	9	14	9	9	0	4	2	1	2	3	0	5	3	5	2	1	1	2	2	1	1	4	3	novel		11LU035_TP	11LU035_NB	C	C																c.972G>T	p.Met324Ile	p.M324I	ENST00000263245	11/16	185	130	55	243	242	1	strelka-varscan-mutect	ARFGAP3,missense_variant,p.Met324Ile,ENST00000263245,NM_014570.4;ARFGAP3,missense_variant,p.Met280Ile,ENST00000437119,NM_001142293.1;ARFGAP3,missense_variant,p.Met171Ile,ENST00000453516,;	A	ENST00000263245	Transcript	missense_variant	1192/2857	972/1551	324/516	M/I	atG/atT		1		-1	ARFGAP3	HGNC	HGNC:661	protein_coding	YES	CCDS14042.1	ENSP00000263245	Q9NP61	A0A024R4U0	UPI0000125DF8	NM_014570.4	deleterious(0)		11/16		hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF208																	MODERATE	1	SNV	1			1										PASS		rs1265101470	.												A	3	1	4	42817234	42817234	C	A	1	0	0	0	0	1	0	0	0	974	710	25	2		2	ARFGAP3	22	42817234	Missense_Mutation	SNP	C	11LU035_TP		42817234	8001234	88	1824											
FAM155B	0	.	GRCh38	chrX	69505769	69505769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttcgaaccgactactccgGccccccctctgcggccccct	4	9	7	21	4	1	0	0	0	1	0	3	2	2	0	7	2	3	0	7	2	2	3	rs770211531		11LU035_TP	11LU035_NB	G	G																c.487G>A	p.Ala163Thr	p.A163T	ENST00000252338	1/3	115	69	46	223	223	0	strelka-varscan-mutect	FAM155B,missense_variant,p.Ala163Thr,ENST00000252338,NM_015686.2;	A	ENST00000252338	Transcript	missense_variant	529/4013	487/1419	163/472	A/T	Gcc/Acc	rs770211531,COSM4682634	1		1	FAM155B	HGNC	HGNC:30701	protein_coding	YES	CCDS35317.1	ENSP00000252338	O75949		UPI0000070EAA	NM_015686.2	tolerated(0.25)		1/3		hmmpanther:PTHR15819,hmmpanther:PTHR15819:SF8,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs770211531	.												A	3	1	4	69505769	69505769	G	A	1	0	0	0	0	1	0	0	0	5314	1203	42	3		3	FAM155B	23	69505769	Missense_Mutation	SNP	G	11LU035_TP		69505769	86535126	89	1825											
ARMCX4	0	.	GRCh38	chrX	101493421	101493421	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccagtggaataggttcctGgggtgtggctggtggccagg	5	10	19	7	0	0	0	0	0	0	0	2	1	2	1	3	8	0	2	3	8	2	2	novel		11LU035_TP	11LU035_NB	G	G																c.4832G>C	p.Trp1611Ser	p.W1611S	ENST00000423738	2/2	111	67	44	164	164	0	strelka-varscan-mutect	ARMCX4,missense_variant,p.Trp1611Ser,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000455331,;	C	ENST00000423738	Transcript	missense_variant	5034/7424	4832/6873	1611/2290	W/S	tGg/tCg		1		1	ARMCX4	HGNC	HGNC:28615	protein_coding	YES	CCDS59170.1	ENSP00000404304		F8W8Y7	UPI000442CF06	NM_001256155.2	deleterious(0)		2/2																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	4	101493421	101493421	G	C	1	0	0	0	0	1	0	0	0	1102	1357	47	4		4	ARMCX4	23	101493421	Missense_Mutation	SNP	G	11LU035_TP	31987652	101493421	54547474	90	1826											
BCORL1	0	.	GRCh38	chrX	130037366	130037366	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttgtccctgtccccacaGgatgttgttctctactgcct	5	14	9	13	0	1	0	0	0	1	0	4	2	3	1	4	1	2	3	4	1	1	4	novel		11LU035_TP	11LU035_NB	G	G																c.4306-1G>T		p.X1436_splice	ENST00000540052		158	106	52	291	290	1	strelka-varscan-mutect	BCORL1,splice_acceptor_variant,,ENST00000540052,NM_021946.4;BCORL1,splice_acceptor_variant,,ENST00000218147,;BCORL1,splice_acceptor_variant,,ENST00000456822,;	T	ENST00000540052	Transcript	splice_acceptor_variant	-/7127	4306/5136	1436/1711				1		1	BCORL1	HGNC	HGNC:25657	protein_coding	YES	CCDS14616.1	ENSP00000437775	Q5H9F3		UPI0001D3414A	NM_021946.4				7/11																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	4	130037366	130037366	G	T	1	0	0	0	0	0	0	1	0	1534	1014	35	2		2	BCORL1	23	130037366	Splice_Site	SNP	G	11LU035_TP	28543945	130037366	26003529	91	1827											
RAP2C	0	.	GRCh38	chrX	132214438	132214438	+	Frame_Shift_Del	DEL	C	C	-																															acaatttgatctctcattggCttgatatcctattcaagcaa																										11LU035_TP	11LU035_NB	C	C																c.282delG	p.Lys94AsnfsTer3	p.K94Nfs*3	ENST00000342983	3/4	51	37	14	67	67	0	sindel-varindel-pindel	RAP2C,frameshift_variant,p.Lys94AsnfsTer3,ENST00000342983,NM_021183.4;RAP2C,frameshift_variant,p.Lys28AsnfsTer3,ENST00000620646,NM_001271187.1;RAP2C,frameshift_variant,p.Lys94AsnfsTer3,ENST00000370874,NM_001271186.1;RAP2C-AS1,upstream_gene_variant,,ENST00000441399,;RAP2C-AS1,upstream_gene_variant,,ENST00000421483,;RAP2C,non_coding_transcript_exon_variant,,ENST00000460462,;RAP2C,downstream_gene_variant,,ENST00000490400,;	-	ENST00000342983	Transcript	frameshift_variant	1029/3896	282/552	94/183	K/X	aaG/aa	COSM121706	1		-1	RAP2C	HGNC	HGNC:21165	protein_coding	YES	CCDS14632.1	ENSP00000340274	Q9Y3L5		UPI00000236AB	NM_021183.4			3/4		PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF200,hmmpanther:PTHR24070,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00174,Superfamily_domains:SSF52540											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	4	132214438	132214438	C	-	1	0	1	0	1	0	0	0	0	13201	796	28	0		0	RAP2C	23	132214438	Frame_Shift_Del	DEL	C	11LU035_TP	2177072	132214438	23826457	92	1828											
FLNA	0	.	GRCh38	chrX	154368034	154368034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggagtagtgcaggatcaGggtccagatgaggcccagga	11	6	17	7	0	1	2	1	1	0	1	2	6	2	5	2	5	1	2	2	5	1	1	novel		11LU035_TP	11LU035_NB	G	G																c.430C>A	p.Leu144Met	p.L144M	ENST00000369850	3/48	211	198	13	377	377	0	strelka-varscan-mutect	FLNA,missense_variant,p.Leu144Met,ENST00000422373,NM_001456.3;FLNA,missense_variant,p.Leu144Met,ENST00000369850,NM_001110556.1;FLNA,missense_variant,p.Leu144Met,ENST00000360319,;FLNA,missense_variant,p.Leu117Met,ENST00000369856,;FLNA,missense_variant,p.Leu144Met,ENST00000344736,;FLNA,missense_variant,p.Leu117Met,ENST00000610817,;FLNA,missense_variant,p.Leu130Met,ENST00000420627,;FLNA,upstream_gene_variant,,ENST00000465144,;	T	ENST00000369850	Transcript	missense_variant	667/8382	430/7944	144/2647	L/M	Ctg/Atg		1		-1	FLNA	HGNC	HGNC:3754	protein_coding	YES	CCDS48194.1	ENSP00000358866	P21333		UPI000013C596	NM_001110556.1	deleterious(0)		3/48		PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF173,PROSITE_patterns:PS00020,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	4	154368034	154368034	G	T	1	0	0	0	0	1	0	0	0	5789	991	35	2		2	FLNA	23	154368034	Missense_Mutation	SNP	G	11LU035_TP	22153596	154368034	1672861	93	1829											
FBXO42	0	.	GRCh38	chr1	16251086	16251086	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcctggagaagacccaagagGaggacttagtgctgcagagg	12	5	16	8	0	0	4	0	0	0	4	0	7	0	6	2	4	2	2	2	4	3	1			C3L-00001_TP	C3L-00001_NB	G	G																c.1738C>G	p.Pro580Ala	p.P580A	ENST00000375592	10/10	184	136	48	121	121	0	strelka-varscan-mutect	FBXO42,missense_variant,p.Pro580Ala,ENST00000375592,NM_018994.2;FBXO42,missense_variant,p.Pro298Ala,ENST00000456164,;FBXO42,missense_variant,p.Pro298Ala,ENST00000444116,;	C	ENST00000375592	Transcript	missense_variant	1955/6202	1738/2154	580/717	P/A	Cct/Gct	COSM4471727	1		-1	FBXO42	HGNC	HGNC:29249	protein_coding	YES	CCDS30613.1	ENSP00000364742	Q6P3S6	A0A024QZB0	UPI0000161A51	NM_018994.2	tolerated_low_confidence(0.41)		10/10		hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF316,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	5	16251086	16251086	G	C	1	0	0	0	0	1	0	0	0	5614	1174	41	4		4	FBXO42	1	16251086	Missense_Mutation	SNP	G	C3L-00001_TP		16251086	232705336	1	1830											
RRAGC	0	.	GRCh38	chr1	38851634	38851634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatatatacaagacacatCaattacaacatcgatcatgt	17	10	3	11	1	2	1	2	0	0	1	3	2	2	1	1	0	3	0	1	0	7	4	novel		C3L-00001_TP	C3L-00001_NB	C	C																c.880G>T	p.Asp294Tyr	p.D294Y	ENST00000373001	5/7	42	37	5	56	56	0	strelka-varscan-mutect	RRAGC,missense_variant,p.Asp294Tyr,ENST00000373001,NM_022157.3,NM_001271851.1;RP5-864K19.7,non_coding_transcript_exon_variant,,ENST00000622355,;RRAGC,non_coding_transcript_exon_variant,,ENST00000493015,;RRAGC,non_coding_transcript_exon_variant,,ENST00000496778,;RRAGC,upstream_gene_variant,,ENST00000474456,;	A	ENST00000373001	Transcript	missense_variant	1057/2732	880/1200	294/399	D/Y	Gat/Tat		1		-1	RRAGC	HGNC	HGNC:19902	protein_coding	YES	CCDS430.1	ENSP00000362092	Q9HB90		UPI00000372EF	NM_022157.3,NM_001271851.1	deleterious(0)		5/7		hmmpanther:PTHR11259,hmmpanther:PTHR11259:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	5	38851634	38851634	C	A	1	0	0	0	0	1	0	0	0	13928	826	29	2		2	RRAGC	1	38851634	Missense_Mutation	SNP	C	C3L-00001_TP	22600548	38851634	210104788	2	1831											
NFIA	0	.	GRCh38	chr1	61088636	61088636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatcacataggggtttctgTtaaggaactcgatttatatt	11	15	8	7	1	2	0	1	0	1	0	3	2	2	1	1	3	1	2	1	3	5	7	novel		C3L-00001_TP	C3L-00001_NB	T	T																c.650T>C	p.Val217Ala	p.V217A	ENST00000371189	3/12	109	93	16	78	78	0	strelka-varscan-mutect	NFIA,missense_variant,p.Val172Ala,ENST00000403491,NM_001134673.3;NFIA,missense_variant,p.Val172Ala,ENST00000371187,NM_005595.4;NFIA,missense_variant,p.Val164Ala,ENST00000407417,NM_001145511.1;NFIA,missense_variant,p.Val217Ala,ENST00000371189,NM_001145512.1;NFIA,missense_variant,p.Val195Ala,ENST00000371191,;NFIA,missense_variant,p.Val172Ala,ENST00000371185,;NFIA,missense_variant,p.Val172Ala,ENST00000485903,;NFIA,missense_variant,p.Val172Ala,ENST00000371184,;NFIA,missense_variant,p.Val125Ala,ENST00000476646,;NFIA,missense_variant,p.Val76Ala,ENST00000496712,;NFIA,intron_variant,,ENST00000479364,;	C	ENST00000371189	Transcript	missense_variant	732/1989	650/1665	217/554	V/A	gTt/gCt		1		1	NFIA	HGNC	HGNC:7784	protein_coding	YES	CCDS53322.1	ENSP00000360231	Q12857		UPI000194EC2E	NM_001145512.1	deleterious(0)		3/12		PROSITE_profiles:PS51080,hmmpanther:PTHR11492,SMART_domains:SM00523																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	5	61088636	61088636	T	C	1	0	0	0	0	1	0	0	0	10407	1725	60	5		5	NFIA	1	61088636	Missense_Mutation	SNP	T	C3L-00001_TP	22237002	61088636	187867786	3	1832											
CELSR2	0	.	GRCh38	chr1	109250140	109250140	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccgccgctgctgctgctgTtgctgctgctgctgccgccg	0	10	14	17	5	0	0	0	0	0	0	0	0	0	0	4	0	8	9	4	0	0	1	novel		C3L-00001_TP	C3L-00001_NB	T	T																c.61T>C	p.=	p.L21L	ENST00000271332	1/34	95	90	5	80	80	0	varscan-mutect	CELSR2,synonymous_variant,p.=,ENST00000271332,NM_001408.2;	C	ENST00000271332	Transcript	synonymous_variant	122/10534	61/8772	21/2923	L	Ttg/Ctg		1		1	CELSR2	HGNC	HGNC:3231	protein_coding	YES	CCDS796.1	ENSP00000271332	Q9HCU4		UPI00000015B6	NM_001408.2			1/34		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		rs754661971	.												C	2	2	5	109250140	109250140	T	C	1	0	0	0	0	0	0	0	1	2929	1722	60	5		5	CELSR2	1	109250140	Silent	SNP	T	C3L-00001_TP	48161504	109250140	139706282	4	1833											
OR6P1	0	.	GRCh38	chr1	158563034	158563034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagctctgcttgctccttgtCagagcaggtgaggttgagta	7	13	13	8	0	2	3	1	2	1	1	3	3	3	3	1	2	4	6	1	2	2	5	novel		C3L-00001_TP	C3L-00001_NB	C	C																c.571G>C	p.Asp191His	p.D191H	ENST00000334632	1/1	364	326	38	248	248	0	strelka-varscan-mutect	OR6P1,missense_variant,p.Asp191His,ENST00000334632,NM_001160325.1;	G	ENST00000334632	Transcript	missense_variant	571/954	571/954	191/317	D/H	Gac/Cac		1		-1	OR6P1	HGNC	HGNC:15036	protein_coding	YES	CCDS53391.1	ENSP00000334721	Q8NGX9	A0A126GV72	UPI000004B1FF	NM_001160325.1	tolerated(0.1)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	5	158563034	158563034	C	G	1	0	0	0	0	1	0	0	0	11277	826	29	4		4	OR6P1	1	158563034	Missense_Mutation	SNP	C	C3L-00001_TP	49312894	158563034	90393388	5	1834											
SPTA1	0	.	GRCh38	chr1	158645347	158645347	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgaagtcctctaaggcctgGaaggtgggagcctctgcctc	7	9	13	12	0	2	1	0	1	2	0	4	3	3	3	4	4	2	0	4	4	3	1	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.4035C>T	p.=	p.F1345F	ENST00000368147	29/52	303	284	19	218	218	0	strelka-varscan-mutect	SPTA1,synonymous_variant,p.=,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000465741,;	A	ENST00000368147	Transcript	synonymous_variant	4216/7999	4035/7260	1345/2419	F	ttC/ttT		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2			29/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	5	158645347	158645347	G	A	1	0	0	0	0	0	0	0	1	15472	1165	41	3		3	SPTA1	1	158645347	Silent	SNP	G	C3L-00001_TP	82313	158645347	90311075	6	1835											
FCGR3A	0	.	GRCh38	chr1	161548469	161548469	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagggtggagaggtttgTctggcacctgtactctccac	7	11	13	10	0	2	2	0	1	2	1	3	3	2	2	2	4	1	3	2	4	1	2	novel		C3L-00001_TP	C3L-00001_NB	T	T																c.379A>C	p.Thr127Pro	p.T127P	ENST00000367969	3/5	1226	1156	70	894	893	1	varscan-mutect	FCGR3A,missense_variant,p.Thr127Pro,ENST00000367969,NM_001127592.1,NM_000569.6;FCGR3A,missense_variant,p.Thr91Pro,ENST00000443193,;FCGR3A,missense_variant,p.Thr91Pro,ENST00000436743,NM_001127595.1,NM_001127596.1,NM_001127593.1;FCGR3A,missense_variant,p.Thr91Pro,ENST00000367967,;FCGR3A,missense_variant,p.Thr108Pro,ENST00000426740,;FCGR3A,missense_variant,p.Thr90Pro,ENST00000442336,;FCGR3A,non_coding_transcript_exon_variant,,ENST00000476031,;RP11-25K21.6,intron_variant,,ENST00000537821,;	G	ENST00000367969	Transcript	missense_variant	563/2310	379/873	127/290	T/P	Aca/Cca		1		-1	FCGR3A	HGNC	HGNC:3619	protein_coding	YES	CCDS1232.1	ENSP00000356946		M9MML0	UPI000013E1BC	NM_001127592.1,NM_000569.6	deleterious(0)		3/5		PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF14,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	5	161548469	161548469	T	G	1	0	0	0	0	1	0	0	0	5646	1667	58	5		5	FCGR3A	1	161548469	Missense_Mutation	SNP	T	C3L-00001_TP	2903122	161548469	87407953	7	1836											
ASTN1	0	.	GRCh38	chr1	176934301	176934301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccacaaaatctgcacgaGatgtagccccatccagcgag	12	5	10	14	3	1	1	0	0	1	1	2	3	2	1	4	0	3	2	4	0	3	1	rs140709411		C3L-00001_TP	C3L-00001_NB	G	G																c.2522C>A	p.Ser841Tyr	p.S841Y	ENST00000361833	16/23	165	152	13	84	84	0	strelka-varscan-mutect	ASTN1,missense_variant,p.Ser841Tyr,ENST00000361833,NM_004319.2;ASTN1,missense_variant,p.Ser841Tyr,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Ser841Tyr,ENST00000424564,NM_207108.2;ASTN1,downstream_gene_variant,,ENST00000281881,;	T	ENST00000361833	Transcript	missense_variant	2536/7116	2522/3885	841/1294	S/Y	tCt/tAt	rs140709411	1		-1	ASTN1	HGNC	HGNC:773	protein_coding	YES	CCDS1319.1	ENSP00000354536	O14525		UPI0000160388	NM_004319.2	deleterious(0)		16/23		hmmpanther:PTHR16592:SF8,hmmpanther:PTHR16592,SMART_domains:SM00457																	MODERATE	1	SNV	1			1										PASS		rs140709411	.												T	3	4	5	176934301	176934301	G	T	1	0	0	0	0	1	0	0	0	1211	942	33	2		2	ASTN1	1	176934301	Missense_Mutation	SNP	G	C3L-00001_TP	15385832	176934301	72022121	8	1837											
KDM3A	0	.	GRCh38	chr2	86474798	86474798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaattcaacaaacatggtGtgttgcgggtagaaggcttc	12	11	11	7	1	1	1	1	0	0	1	2	1	1	1	0	3	4	3	0	3	6	5	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.1747G>T	p.Val583Leu	p.V583L	ENST00000409556	13/27	181	163	18	136	136	0	strelka-varscan	KDM3A,missense_variant,p.Val583Leu,ENST00000409556,;KDM3A,missense_variant,p.Val583Leu,ENST00000312912,NM_018433.5;KDM3A,missense_variant,p.Val583Leu,ENST00000409064,NM_001146688.1;KDM3A,missense_variant,p.Val583Leu,ENST00000542128,;KDM3A,non_coding_transcript_exon_variant,,ENST00000485171,;KDM3A,missense_variant,p.Val583Leu,ENST00000441719,;	T	ENST00000409556	Transcript	missense_variant	2112/4928	1747/3966	583/1321	V/L	Gtg/Ttg		1		1	KDM3A	HGNC	HGNC:20815	protein_coding	YES	CCDS1990.1	ENSP00000386660	Q9Y4C1		UPI0000161FAE		tolerated(0.18)		13/27		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF7																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	5	86474798	86474798	G	T	1	0	0	0	0	1	0	0	0	8044	1377	48	2		2	KDM3A	2	86474798	Missense_Mutation	SNP	G	C3L-00001_TP		86474798	155718731	9	1838											
XIRP2	0	.	GRCh38	chr2	167239888	167239888	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagccaggttggcacttcaAgaagcagccaggaaatggca	13	5	13	10	0	1	1	1	0	0	1	1	2	1	2	2	4	3	5	2	4	3	2	novel		C3L-00001_TP	C3L-00001_NB	A	A																c.892A>G	p.Arg298Gly	p.R298G	ENST00000409195	6/11	276	230	46	233	232	1	strelka-varscan	XIRP2,missense_variant,p.Arg298Gly,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Arg76Gly,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Arg123Gly,ENST00000628543,;XIRP2,missense_variant,p.Arg331Gly,ENST00000409728,NM_001199143.1;XIRP2,missense_variant,p.Arg298Gly,ENST00000409043,NM_001079810.3;XIRP2,missense_variant,p.Arg76Gly,ENST00000409605,NM_001199145.1;	G	ENST00000409195	Transcript	missense_variant	981/12675	892/10650	298/3549	R/G	Aga/Gga		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	tolerated(0.27)		6/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	5	167239888	167239888	A	G	1	0	0	0	0	1	0	0	0	17989	64	3	5		5	XIRP2	2	167239888	Missense_Mutation	SNP	A	C3L-00001_TP	80765090	167239888	74953641	10	1839											
TTN	0	.	GRCh38	chr2	178739284	178739289	+	In_Frame_Del	DEL	AACTTT	AACTTT	-																															tttgatcttgtaaacacttgAacttttcatctgaaggcacc																								novel		C3L-00001_TP	C3L-00001_NB	AACTTT	AACTTT																c.13944_13949delAAAGTT	p.Glu4648_Phe4650delinsAsp	p.E4648_F4650delinsD	ENST00000589042	48/363	65	47	18	93	93	0	sindel-varindel-pindel	TTN,inframe_deletion,p.Glu4648_Phe4650delinsAsp,ENST00000589042,NM_001267550.2;TTN,inframe_deletion,p.Glu4331_Phe4333delinsAsp,ENST00000591111,;TTN,inframe_deletion,p.Glu4331_Phe4333delinsAsp,ENST00000615779,NM_001256850.1;TTN,inframe_deletion,p.Glu4285_Phe4287delinsAsp,ENST00000460472,NM_003319.4;TTN,inframe_deletion,p.Glu4477_Phe4479delinsAsp,ENST00000342175,NM_133437.4;TTN,inframe_deletion,p.Glu4410_Phe4412delinsAsp,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN-AS1,intron_variant,,ENST00000582847,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000627661,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000631319,;TTN-AS1,downstream_gene_variant,,ENST00000625480,;	-	ENST00000589042	Transcript	inframe_deletion	14169-14174/109224	13944-13949/107976	4648-4650/35991	EKF/D	gaAAAGTTc/gac		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			48/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	deletion	5			1										PASS		.	.												-	7	5	5	178739284	178739284	AACTTT	-	1	0	1	0	1	0	0	0	0	17245	246	9	0		0	TTN	2	178739284	In_Frame_Del	DEL	AACTTT	C3L-00001_TP	11499396	178739284	63454245	11	1840											
MAP2	0	.	GRCh38	chr2	209693503	209693503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaaactgagctgaagcttGaagaaaaaaccaccatttct	17	8	8	8	0	1	4	0	3	1	1	1	5	1	5	2	1	4	2	2	1	6	2	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.1333G>A	p.Glu445Lys	p.E445K	ENST00000360351	7/15	99	85	14	81	81	0	strelka-varscan	MAP2,missense_variant,p.Glu445Lys,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Glu441Lys,ENST00000447185,;MAP2,missense_variant,p.Glu527Lys,ENST00000445941,;MAP2,intron_variant,,ENST00000392194,NM_031845.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;	A	ENST00000360351	Transcript	missense_variant	1839/9711	1333/5484	445/1827	E/K	Gaa/Aaa		1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3	deleterious_low_confidence(0)		7/15		Low_complexity_(Seg):seg,hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15,Pfam_domain:PF08377																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	5	209693503	209693503	G	A	1	0	0	0	0	1	0	0	0	9157	1291	45	3		3	MAP2	2	209693503	Missense_Mutation	SNP	G	C3L-00001_TP	30954219	209693503	32500026	12	1841											
IQCA1	0	.	GRCh38	chr2	236380595	236380595	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtcagatctttatccttCtttgccttcttctctttctt	3	22	4	12	0	6	1	1	0	5	1	8	1	7	1	2	0	1	1	2	0	1	8	novel		C3L-00001_TP	C3L-00001_NB	C	C																c.1476G>A	p.=	p.K492K	ENST00000431676	12/19	194	174	20	182	182	0	strelka-varscan-mutect	IQCA1,synonymous_variant,p.=,ENST00000409907,NM_024726.4;IQCA1,synonymous_variant,p.=,ENST00000309507,NM_001270584.1;IQCA1,synonymous_variant,p.=,ENST00000431676,NM_001270585.1;IQCA1,synonymous_variant,p.=,ENST00000418802,;IQCA1,downstream_gene_variant,,ENST00000467572,;IQCA1,synonymous_variant,p.=,ENST00000254653,;	T	ENST00000431676	Transcript	synonymous_variant	1511/3069	1476/2493	492/830	K	aaG/aaA		1		-1	IQCA1	HGNC	HGNC:26195	protein_coding	YES	CCDS74677.1	ENSP00000407213		A0A0A0MSY6	UPI0001AE77A0	NM_001270585.1			12/19		hmmpanther:PTHR14690,hmmpanther:PTHR14690:SF8,Low_complexity_(Seg):seg,Superfamily_domains:SSF52540																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	5	236380595	236380595	C	T	1	0	0	0	0	0	0	0	1	7705	912	32	3		3	IQCA1	2	236380595	Silent	SNP	C	C3L-00001_TP	26687092	236380595	5812934	13	1842											
ELP6	0	.	GRCh38	chr3	47496158	47496158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagctctgatcccggtGgactgcgggctgcgatggtc	6	9	16	10	3	1	2	0	2	1	0	3	4	2	3	1	4	3	2	1	4	1	0	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.712C>T	p.His238Tyr	p.H238Y	ENST00000296149	7/7	213	171	42	206	206	0	strelka-varscan-mutect	ELP6,missense_variant,p.His238Tyr,ENST00000296149,NM_001031703.2;ELP6,missense_variant,p.His165Tyr,ENST00000446787,;ELP6,missense_variant,p.His165Tyr,ENST00000439305,;ELP6,downstream_gene_variant,,ENST00000444760,;ELP6,downstream_gene_variant,,ENST00000412761,;BOLA2P2,upstream_gene_variant,,ENST00000604904,;ELP6,3_prime_UTR_variant,,ENST00000442215,;ELP6,downstream_gene_variant,,ENST00000445044,;BOLA2P2,upstream_gene_variant,,ENST00000603861,;	A	ENST00000296149	Transcript	missense_variant	883/1401	712/801	238/266	H/Y	Cac/Tac		1		-1	ELP6	HGNC	HGNC:25976	protein_coding	YES	CCDS43082.1	ENSP00000296149	Q0PNE2		UPI000020A684	NM_001031703.2	deleterious(0)		7/7		Pfam_domain:PF09807,hmmpanther:PTHR16184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	5	47496158	47496158	G	A	1	0	0	0	0	1	0	0	0	4918	1348	47	3		3	ELP6	3	47496158	Missense_Mutation	SNP	G	C3L-00001_TP		47496158	150799401	14	1843											
FAM19A4	0	.	GRCh38	chr3	68752906	68752906	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagttgtgcccgccacctgTcccgggaagcaagagcactt	8	7	12	14	3	0	1	0	0	0	1	1	3	1	2	4	1	3	3	4	1	2	2	rs746821600		C3L-00001_TP	C3L-00001_NB	T	T																c.243A>G	p.=	p.G81G	ENST00000295569	4/6	421	372	49	382	382	0	strelka-varscan-mutect	FAM19A4,synonymous_variant,p.=,ENST00000295569,NM_001005527.2,NM_182522.4;FAM19A4,downstream_gene_variant,,ENST00000634242,;FAM19A4,downstream_gene_variant,,ENST00000495737,;	C	ENST00000295569	Transcript	synonymous_variant	736/2292	243/423	81/140	G	ggA/ggG	rs746821600	1		-1	FAM19A4	HGNC	HGNC:21591	protein_coding	YES	CCDS2907.1	ENSP00000295569	Q96LR4	A0A024R369	UPI0000071129	NM_001005527.2,NM_182522.4			4/6		PD298472,Pfam_domain:PF12020,hmmpanther:PTHR31770,hmmpanther:PTHR31770:SF7																	LOW	1	SNV	1			1										PASS		rs746821600	.												C	2	2	5	68752906	68752906	T	C	1	0	0	0	0	0	0	0	1	5381	1654	58	5		5	FAM19A4	3	68752906	Silent	SNP	T	C3L-00001_TP	21256748	68752906	129542653	15	1844											
IFT122	0	.	GRCh38	chr3	129478032	129478032	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagttcggattaaatgcaaAgagcttgtcaagaagattgc	15	10	10	6	1	1	3	1	0	0	3	2	4	1	4	0	1	3	3	0	1	5	4	novel		C3L-00001_TP	C3L-00001_NB	A	A																c.1317A>G	p.=	p.K439K	ENST00000296266	13/31	232	206	26	287	287	0	strelka-varscan-mutect	IFT122,synonymous_variant,p.=,ENST00000431818,NM_001280545.1;IFT122,synonymous_variant,p.=,ENST00000296266,NM_052985.3;IFT122,synonymous_variant,p.=,ENST00000440957,NM_001280546.1;IFT122,synonymous_variant,p.=,ENST00000348417,NM_052989.2;IFT122,synonymous_variant,p.=,ENST00000347300,NM_018262.3;IFT122,synonymous_variant,p.=,ENST00000507564,NM_001280541.1;IFT122,synonymous_variant,p.=,ENST00000349441,NM_052990.2;IFT122,synonymous_variant,p.=,ENST00000504021,;IFT122,synonymous_variant,p.=,ENST00000515783,;IFT122,upstream_gene_variant,,ENST00000509522,;IFT122,downstream_gene_variant,,ENST00000512157,;IFT122,downstream_gene_variant,,ENST00000511498,;IFT122,downstream_gene_variant,,ENST00000509815,;IFT122,3_prime_UTR_variant,,ENST00000512220,;IFT122,non_coding_transcript_exon_variant,,ENST00000506507,;IFT122,non_coding_transcript_exon_variant,,ENST00000508654,;IFT122,upstream_gene_variant,,ENST00000513891,;IFT122,upstream_gene_variant,,ENST00000448668,;IFT122,upstream_gene_variant,,ENST00000512814,;	G	ENST00000296266	Transcript	synonymous_variant	1509/4151	1317/3879	439/1292	K	aaA/aaG		1		1	IFT122	HGNC	HGNC:13556	protein_coding	YES	CCDS3060.1	ENSP00000296266	Q9HBG6		UPI0000141042	NM_052985.3			13/31		hmmpanther:PTHR12764,hmmpanther:PTHR12764:SF4																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	5	129478032	129478032	A	G	1	0	0	0	0	0	0	0	1	7459	69	3	5		5	IFT122	3	129478032	Silent	SNP	A	C3L-00001_TP	60725126	129478032	68817527	16	1845											
COL6A5	0	.	GRCh38	chr3	130455494	130455494	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggattttttgggaggtaaTggcttcattggccaagaatt	10	14	13	4	0	1	1	1	0	0	1	1	4	1	3	1	5	0	2	1	5	3	7	novel		C3L-00001_TP	C3L-00001_NB	T	T																c.6606T>C	p.=	p.N2202N	ENST00000265379	38/43	117	86	31	217	217	0	strelka-varscan-mutect	COL6A5,synonymous_variant,p.=,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,synonymous_variant,p.=,ENST00000512836,;COL6A5,synonymous_variant,p.=,ENST00000512482,;COL6A5,synonymous_variant,p.=,ENST00000373157,;COL6A5,synonymous_variant,p.=,ENST00000312481,;	C	ENST00000265379	Transcript	synonymous_variant	7100/9214	6606/7836	2202/2611	N	aaT/aaC		1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1			38/43		hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF133																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	5	130455494	130455494	T	C	1	0	0	0	0	0	0	0	1	3491	1461	51	5		5	COL6A5	3	130455494	Silent	SNP	T	C3L-00001_TP	977462	130455494	67840065	17	1846											
ADCY2	0	.	GRCh38	chr5	7709248	7709248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatctcttcagacctcGccacacccttgatggagcca	9	8	7	17	1	2	2	1	1	1	1	4	3	2	3	5	1	2	1	5	1	0	2			C3L-00001_TP	C3L-00001_NB	G	G																c.1439G>A	p.Arg480His	p.R480H	ENST00000338316	10/25	76	68	8	58	58	0	strelka-varscan-mutect	ADCY2,missense_variant,p.Arg480His,ENST00000338316,NM_020546.2;RP11-711G10.1,intron_variant,,ENST00000514105,;	A	ENST00000338316	Transcript	missense_variant	1528/6575	1439/3276	480/1091	R/H	cGc/cAc	COSM1757139,COSM254508	1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2	deleterious(0.01)		10/25		PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1410091098	.												A	3	1	5	7709248	7709248	G	A	1	0	0	0	0	1	0	0	0	338	1087	38	1		1	ADCY2	5	7709248	Missense_Mutation	SNP	G	C3L-00001_TP		7709248	173829011	18	1847											
CDH12	0	.	GRCh38	chr5	21760607	21760607	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatagcagcctcaggtgaTaatctaaaggagaattgttg	13	12	11	5	0	2	3	1	2	1	1	2	4	2	3	1	2	2	2	1	2	5	6	novel		C3L-00001_TP	C3L-00001_NB	T	T																c.1584A>G	p.=	p.L528L	ENST00000382254	13/15	218	199	19	162	162	0	strelka-varscan-mutect	CDH12,synonymous_variant,p.=,ENST00000382254,NM_004061.3;CDH12,synonymous_variant,p.=,ENST00000504376,;CDH12,synonymous_variant,p.=,ENST00000522262,;RP11-804N13.1,intron_variant,,ENST00000522350,;CDH12,non_coding_transcript_exon_variant,,ENST00000521384,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;	C	ENST00000382254	Transcript	synonymous_variant	2671/4164	1584/2385	528/794	L	ttA/ttG		1		-1	CDH12	HGNC	HGNC:1751	protein_coding	YES	CCDS3890.1	ENSP00000371689	P55289		UPI00000622EB	NM_004061.3			13/15		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF96,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	5	21760607	21760607	T	C	1	0	0	0	0	0	0	0	1	2801	1403	49	5		5	CDH12	5	21760607	Silent	SNP	T	C3L-00001_TP	14051359	21760607	159777652	19	1848											
OSMR	0	.	GRCh38	chr5	38921644	38921644	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaaagaattgcaggcAcagagggtggattctctctg	13	8	14	6	0	2	3	0	0	2	3	3	5	2	5	0	4	1	2	0	4	3	2	novel		C3L-00001_TP	C3L-00001_NB	A	A																c.1615A>C	p.Thr539Pro	p.T539P	ENST00000274276	12/18	225	203	22	227	227	0	strelka-varscan-mutect	OSMR,missense_variant,p.Thr539Pro,ENST00000274276,NM_001323505.1,NM_001323506.1,NM_003999.2;OSMR,downstream_gene_variant,,ENST00000513831,;	C	ENST00000274276	Transcript	missense_variant	2017/5539	1615/2940	539/979	T/P	Aca/Cca		1		1	OSMR	HGNC	HGNC:8507	protein_coding	YES	CCDS3928.1	ENSP00000274276	Q99650		UPI000004CAC3	NM_001323505.1,NM_001323506.1,NM_003999.2	deleterious(0)		12/18		Pfam_domain:PF00041,PROSITE_patterns:PS01353,PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF95,SMART_domains:SM00060																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	5	38921644	38921644	A	C	1	0	0	0	0	1	0	0	0	11359	159	6	5		5	OSMR	5	38921644	Missense_Mutation	SNP	A	C3L-00001_TP	17161037	38921644	142616615	20	1849											
F2RL2	0	.	GRCh38	chr5	76618513	76618513	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggcacttaatttttacaGtaatcgtggctcctgtccag	9	13	9	10	1	0	0	0	0	0	0	3	0	2	0	2	2	1	3	2	2	3	5	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.194C>G	p.Thr65Ser	p.T65S	ENST00000296641	2/2	484	433	51	375	375	0	strelka-varscan-mutect	F2RL2,missense_variant,p.Thr65Ser,ENST00000296641,NM_004101.3;F2RL2,missense_variant,p.Thr43Ser,ENST00000504899,NM_001256566.1;IQGAP2,intron_variant,,ENST00000274364,NM_006633.3;IQGAP2,intron_variant,,ENST00000379730,NM_001285460.1;IQGAP2,intron_variant,,ENST00000505766,;IQGAP2,intron_variant,,ENST00000502745,NM_001285462.1;IQGAP2,intron_variant,,ENST00000396234,NM_001285461.1;IQGAP2,intron_variant,,ENST00000514350,;IQGAP2,intron_variant,,ENST00000514001,;IQGAP2,intron_variant,,ENST00000509074,;IQGAP2,intron_variant,,ENST00000515505,;IQGAP2,splice_acceptor_variant,,ENST00000504254,;IQGAP2,intron_variant,,ENST00000513534,;	C	ENST00000296641	Transcript	missense_variant	398/3429	194/1125	65/374	T/S	aCt/aGt		1		-1	F2RL2	HGNC	HGNC:3539	protein_coding	YES	CCDS4031.1	ENSP00000296641	O00254		UPI0000050431	NM_004101.3	tolerated(0.57)		2/2		Prints_domain:PR01429,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	5	76618513	76618513	G	C	1	0	0	0	0	1	0	0	0	5213	1029	36	4		4	F2RL2	5	76618513	Missense_Mutation	SNP	G	C3L-00001_TP	37696869	76618513	104919746	21	1850											
STK10	0	.	GRCh38	chr5	172083082	172083082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctctcggagttcctggCgcctgaaaggttaaaggata	11	9	13	8	2	1	1	0	1	1	0	3	4	2	3	2	4	1	3	2	4	5	3	rs550965424		C3L-00001_TP	C3L-00001_NB	C	C																c.1688G>A	p.Arg563His	p.R563H	ENST00000176763	11/19	453	402	51	297	297	0	strelka-varscan-mutect	STK10,missense_variant,p.Arg563His,ENST00000176763,NM_005990.3;STK10,upstream_gene_variant,,ENST00000522879,;	T	ENST00000176763	Transcript	missense_variant,splice_region_variant	2032/6060	1688/2907	563/968	R/H	cGc/cAc	rs550965424,COSM3410144	1		-1	STK10	HGNC	HGNC:11388	protein_coding	YES	CCDS34290.1	ENSP00000176763	O94804		UPI0000136104	NM_005990.3	deleterious(0)		11/19		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs550965424	.												T	3	4	5	172083082	172083082	C	T	1	0	0	0	0	1	0	0	0	15663	782	27	1		1	STK10	5	172083082	Missense_Mutation	SNP	C	C3L-00001_TP	95464569	172083082	9455177	22	1851											
NT5E	0	.	GRCh38	chr6	85467263	85467263	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatacacttccaaagaaacCccttttctctcaaatccagg	13	10	5	13	0	2	1	1	0	1	1	5	2	4	2	4	2	2	0	4	2	4	4	novel		C3L-00001_TP	C3L-00001_NB	C	C																c.543C>A	p.=	p.T181T	ENST00000257770	2/9	187	177	10	337	337	0	strelka-varscan	NT5E,synonymous_variant,p.=,ENST00000369651,NM_001204813.1;NT5E,synonymous_variant,p.=,ENST00000257770,NM_002526.3;NT5E,synonymous_variant,p.=,ENST00000369646,;NT5E,upstream_gene_variant,,ENST00000416334,;	A	ENST00000257770	Transcript	synonymous_variant	592/3548	543/1725	181/574	T	acC/acA		1		1	NT5E	HGNC	HGNC:8021	protein_coding	YES	CCDS5002.1	ENSP00000257770	P21589		UPI0000124F48	NM_002526.3			2/9		hmmpanther:PTHR11575,hmmpanther:PTHR11575:SF25,Pfam_domain:PF00149,Gene3D:3.60.21.10,Superfamily_domains:SSF56300																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	5	85467263	85467263	C	A	1	0	0	0	0	0	0	0	1	10757	610	22	2		2	NT5E	6	85467263	Silent	SNP	C	C3L-00001_TP		85467263	85338716	23	1852											
SLC16A10	0	.	GRCh38	chr6	111206653	111206653	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaggttgttctcatgtgcaTtggcgtcacttcaggagttg	7	14	13	7	1	3	1	3	0	1	1	4	2	3	2	0	3	1	4	0	3	0	5	novel		C3L-00001_TP	C3L-00001_NB	T	T																c.1004T>C	p.Ile335Thr	p.I335T	ENST00000368851	4/6	191	163	28	210	210	0	strelka-varscan	SLC16A10,missense_variant,p.Ile21Thr,ENST00000368850,;SLC16A10,missense_variant,p.Ile335Thr,ENST00000368851,NM_018593.4;	C	ENST00000368851	Transcript	missense_variant	1179/2508	1004/1548	335/515	I/T	aTt/aCt		1		1	SLC16A10	HGNC	HGNC:17027	protein_coding	YES	CCDS5089.1	ENSP00000357844	Q8TF71		UPI00000497DB	NM_018593.4	tolerated(0.06)		4/6		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF119,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	5	111206653	111206653	T	C	1	0	0	0	0	1	0	0	0	14669	1493	52	5		5	SLC16A10	6	111206653	Missense_Mutation	SNP	T	C3L-00001_TP	25739390	111206653	59599326	24	1853											
HOXA3	0	.	GRCh38	chr7	27108343	27108343	+	Frame_Shift_Del	DEL	G	G	-																															gggcagcccgtaggtaccctGggggggcttggagaagggcg																								novel		C3L-00001_TP	C3L-00001_NB	G	G																c.904delC	p.Gln302ArgfsTer74	p.Q302Rfs*74	ENST00000612286	4/4	20	16	4	11	11	0	sindel-pindel	HOXA3,frameshift_variant,p.Gln302ArgfsTer74,ENST00000612286,NM_153631.2;HOXA3,frameshift_variant,p.Gln302ArgfsTer74,ENST00000396352,NM_030661.4;HOXA3,frameshift_variant,p.Gln302ArgfsTer74,ENST00000317201,;HOXA3,downstream_gene_variant,,ENST00000522788,;HOXA3,downstream_gene_variant,,ENST00000522456,;HOXA-AS2,intron_variant,,ENST00000518088,;HOXA3,downstream_gene_variant,,ENST00000521401,;	-	ENST00000612286	Transcript	frameshift_variant	1243/3396	904/1332	302/443	Q/X	Cag/ag		1		-1	HOXA3	HGNC	HGNC:5104	protein_coding	YES	CCDS5404.1	ENSP00000484411	O43365	A0A024RA33	UPI000012CF22	NM_153631.2			4/4		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF137																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	5	27108343	27108343	G	-	1	0	1	0	1	0	0	0	0	7187	1357	47	0		0	HOXA3	7	27108343	Frame_Shift_Del	DEL	G	C3L-00001_TP		27108343	132237630	25	1854											
AVL9	0	.	GRCh38	chr7	32580232	32580232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacagccatccatttcaaGgccaatactcagtatcagac	13	11	5	12	0	3	1	3	0	0	1	4	1	4	1	3	1	3	1	3	1	5	5	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.1702G>A	p.Gly568Ser	p.G568S	ENST00000318709	14/16	76	70	6	99	99	0	strelka-varscan	AVL9,missense_variant,p.Gly568Ser,ENST00000318709,NM_015060.2;AVL9,intron_variant,,ENST00000446718,;AVL9,intron_variant,,ENST00000409301,;AVL9,non_coding_transcript_exon_variant,,ENST00000470500,;AVL9,upstream_gene_variant,,ENST00000497020,;AVL9,upstream_gene_variant,,ENST00000467779,;DPY19L1P1,downstream_gene_variant,,ENST00000417811,;	A	ENST00000318709	Transcript	missense_variant	1923/6982	1702/1947	568/648	G/S	Ggc/Agc		1		1	AVL9	HGNC	HGNC:28994	protein_coding	YES	CCDS34613.1	ENSP00000315568	Q8NBF6	A0A024RA36	UPI0000049D97	NM_015060.2	deleterious(0)		14/16		hmmpanther:PTHR31017																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	5	32580232	32580232	G	A	1	0	0	0	0	1	0	0	0	1384	1000	35	3		3	AVL9	7	32580232	Missense_Mutation	SNP	G	C3L-00001_TP	5471889	32580232	126765741	26	1855											
URGCP	0	.	GRCh38	chr7	43879256	43879256	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttcttgaagcctgcttctCtccactgtggaaagaaatga	11	13	8	9	0	2	3	0	2	2	1	4	4	3	4	2	1	2	1	2	1	3	3	novel		C3L-00001_TP	C3L-00001_NB	C	C																c.207G>C	p.Glu69Asp	p.E69D	ENST00000453200	6/6	124	113	11	58	58	0	strelka-varscan	URGCP,missense_variant,p.Glu26Asp,ENST00000336086,;URGCP,missense_variant,p.Glu69Asp,ENST00000453200,NM_001077663.2;URGCP,missense_variant,p.Glu26Asp,ENST00000443736,NM_001077664.2,NM_001290075.1,NM_001290076.1;URGCP,missense_variant,p.Glu60Asp,ENST00000402306,NM_017920.4;URGCP,missense_variant,p.Glu26Asp,ENST00000426198,;URGCP,missense_variant,p.Glu26Asp,ENST00000439702,;URGCP,missense_variant,p.Glu26Asp,ENST00000455877,;URGCP-MRPS24,intron_variant,,ENST00000603700,NM_001204871.1;URGCP,downstream_gene_variant,,ENST00000446958,;URGCP,non_coding_transcript_exon_variant,,ENST00000497914,;URGCP,non_coding_transcript_exon_variant,,ENST00000467410,;URGCP,non_coding_transcript_exon_variant,,ENST00000474376,;	G	ENST00000453200	Transcript	missense_variant	701/4042	207/2796	69/931	E/D	gaG/gaC		1		-1	URGCP	HGNC	HGNC:30890	protein_coding	YES	CCDS47578.1	ENSP00000396918	Q8TCY9		UPI000020EE9D	NM_001077663.2	deleterious(0.02)		6/6		hmmpanther:PTHR22796																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	5	43879256	43879256	C	G	1	0	0	0	0	1	0	0	0	17556	927	32	4		4	URGCP	7	43879256	Missense_Mutation	SNP	C	C3L-00001_TP	11299024	43879256	115466717	27	1856											
ABCB1	0	.	GRCh38	chr7	87600138	87600138	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttattgttcagtttaaaaAagttcttcttctttgctcct	8	22	4	7	0	4	0	1	0	3	0	5	0	5	0	1	0	1	4	1	0	4	10	novel		C3L-00001_TP	C3L-00001_NB	A	A																c.47T>G	p.Phe16Cys	p.F16C	ENST00000622132	2/28	241	151	90	188	187	1	strelka-varscan	ABCB1,missense_variant,p.Phe16Cys,ENST00000622132,;ABCB1,missense_variant,p.Phe16Cys,ENST00000265724,NM_000927.4;ABCB1,missense_variant,p.Phe16Cys,ENST00000543898,;ABCB1,missense_variant,p.Phe16Cys,ENST00000416177,;ABCB1,downstream_gene_variant,,ENST00000476862,;	C	ENST00000622132	Transcript	missense_variant	372/4778	47/3843	16/1280	F/C	tTt/tGt		1		-1	ABCB1	HGNC	HGNC:40	protein_coding	YES	CCDS5608.1	ENSP00000478255	P08183	A4D1D2	UPI000013D66C		tolerated(0.18)		2/28		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	5	87600138	87600138	A	C	1	0	0	0	0	1	0	0	0	44	14	1	5		5	ABCB1	7	87600138	Missense_Mutation	SNP	A	C3L-00001_TP	43720882	87600138	71745835	28	1857											
TAC1	0	.	GRCh38	chr7	97734259	97734259	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttgtcagattcctcaattGaaaaacaagtggccctgtta	12	13	7	9	0	3	2	2	1	1	1	4	2	4	2	2	1	1	1	2	1	5	4			C3L-00001_TP	C3L-00001_NB	G	G																c.232G>C	p.Glu78Gln	p.E78Q	ENST00000319273	4/7	98	86	12	130	130	0	strelka-varscan	TAC1,missense_variant,p.Glu78Gln,ENST00000319273,NM_003182.2;TAC1,missense_variant,p.Glu78Gln,ENST00000350485,NM_013996.2;TAC1,intron_variant,,ENST00000346867,NM_013997.2;TAC1,non_coding_transcript_exon_variant,,ENST00000491437,;TAC1,downstream_gene_variant,,ENST00000495916,;	C	ENST00000319273	Transcript	missense_variant	529/1239	232/390	78/129	E/Q	Gaa/Caa	COSM4394069	1		1	TAC1	HGNC	HGNC:11517	protein_coding	YES	CCDS5649.1	ENSP00000321106	P20366		UPI000002C712	NM_003182.2	tolerated_low_confidence(0.35)		4/7		hmmpanther:PTHR11250:SF0,hmmpanther:PTHR11250											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	5	97734259	97734259	G	C	1	0	0	0	0	1	0	0	0	15894	1291	45	4		4	TAC1	7	97734259	Missense_Mutation	SNP	G	C3L-00001_TP	10134121	97734259	61611714	29	1858											
DPP6	0	.	GRCh38	chr7	154772888	154772888	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccctacacgttattggctTaaatggacccacccatgatc	10	12	6	13	1	0	1	0	1	0	0	2	2	1	2	3	2	1	2	3	2	4	5	novel		C3L-00001_TP	C3L-00001_NB	T	T																c.1082T>A	p.Leu361Ter	p.L361*	ENST00000377770	10/26	121	103	18	101	101	0	strelka-varscan	DPP6,stop_gained,p.Leu297Ter,ENST00000404039,NM_001039350.2;DPP6,stop_gained,p.Leu299Ter,ENST00000332007,NM_001936.4;DPP6,stop_gained,p.Leu361Ter,ENST00000377770,NM_130797.3;DPP6,stop_gained,p.Leu254Ter,ENST00000427557,NM_001290252.1;	A	ENST00000377770	Transcript	stop_gained	1223/3710	1082/2598	361/865	L/*	tTa/tAa		1		1	DPP6	HGNC	HGNC:3010	protein_coding	YES	CCDS75683.1	ENSP00000367001	P42658		UPI00001AE746	NM_130797.3			10/26		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	5	154772888	154772888	T	A	1	0	0	0	0	0	1	0	0	4545	1764	61	4		4	DPP6	7	154772888	Nonsense_Mutation	SNP	T	C3L-00001_TP	57038629	154772888	4573085	30	1859											
CSMD1	0	.	GRCh38	chr8	3110284	3110284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcggatactcatcaggaaagCcaggggagtagatggtgccg	11	7	15	8	2	2	1	2	0	0	1	3	4	2	4	2	5	3	1	2	5	3	2	novel		C3L-00001_TP	C3L-00001_NB	C	C																c.6485G>T	p.Gly2162Val	p.G2162V	ENST00000520002	44/71	106	90	16	107	107	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Gly2023Val,ENST00000537824,;CSMD1,missense_variant,p.Gly1642Val,ENST00000335551,;CSMD1,missense_variant,p.Gly2162Val,ENST00000520002,;CSMD1,missense_variant,p.Gly2162Val,ENST00000602557,;CSMD1,missense_variant,p.Gly2161Val,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Gly2162Val,ENST00000400186,;CSMD1,missense_variant,p.Gly2162Val,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000520561,;CSMD1,upstream_gene_variant,,ENST00000523062,;	A	ENST00000520002	Transcript	missense_variant	7041/11740	6485/10698	2162/3565	G/V	gGc/gTc		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0)		44/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	5	3110284	3110284	C	A	1	0	0	0	0	1	0	0	0	3745	739	26	2		2	CSMD1	8	3110284	Missense_Mutation	SNP	C	C3L-00001_TP		3110284	142028352	31	1860											
FBXO10	0	.	GRCh38	chr9	37541626	37541626	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcggtgcaacccagacacAgctgccgccagcgggtgctg	8	5	13	15	3	0	1	0	0	0	1	1	1	0	1	3	2	6	3	3	2	1	0	novel		C3L-00001_TP	C3L-00001_NB	A	A																c.143T>A	p.Leu48Gln	p.L48Q	ENST00000432825	2/11	153	139	14	135	135	0	strelka-varscan-mutect	FBXO10,missense_variant,p.Leu48Gln,ENST00000432825,NM_012166.2;FBXO10,missense_variant,p.Leu48Gln,ENST00000541607,;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000544475,;RP11-613M10.8,intron_variant,,ENST00000541804,;FBXO10,missense_variant,p.Leu48Gln,ENST00000276960,;RP11-613M10.8,3_prime_UTR_variant,,ENST00000537239,;	T	ENST00000432825	Transcript	missense_variant	192/4575	143/2871	48/956	L/Q	cTg/cAg		1		-1	FBXO10	HGNC	HGNC:13589	protein_coding	YES	CCDS47966.1	ENSP00000403802	Q9UK96		UPI00001C1EC6	NM_012166.2	deleterious(0)		2/11		PROSITE_profiles:PS50181,hmmpanther:PTHR22990:SF19,hmmpanther:PTHR22990,Gene3D:1.20.1280.50,Pfam_domain:PF12937,SMART_domains:SM00256,Superfamily_domains:SSF81383																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	5	37541626	37541626	A	T	1	0	0	0	0	1	0	0	0	5589	188	7	4		4	FBXO10	9	37541626	Missense_Mutation	SNP	A	C3L-00001_TP		37541626	100853091	32	1861											
SLC28A3	0	.	GRCh38	chr9	84313383	84313383	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgtttgtgtgctccctGctttgcacagctctgcttct	2	18	10	11	0	2	0	0	0	2	0	3	0	3	0	1	1	5	6	1	1	0	4	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.132C>T	p.=	p.S44S	ENST00000376238	2/18	112	99	13	113	113	0	strelka-varscan-mutect	SLC28A3,synonymous_variant,p.=,ENST00000376238,NM_022127.2,NM_001199633.1;SLC28A3,non_coding_transcript_exon_variant,,ENST00000495823,;	A	ENST00000376238	Transcript	synonymous_variant	182/4887	132/2076	44/691	S	agC/agT		1		-1	SLC28A3	HGNC	HGNC:16484	protein_coding	YES	CCDS6670.1	ENSP00000365413	Q9HAS3		UPI000006F5A6	NM_022127.2,NM_001199633.1			2/18		hmmpanther:PTHR10590,hmmpanther:PTHR10590:SF18																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	5	84313383	84313383	G	A	1	0	0	0	0	0	0	0	1	14803	1310	46	3		3	SLC28A3	9	84313383	Silent	SNP	G	C3L-00001_TP	46771757	84313383	54081334	33	1862											
WAPL	0	.	GRCh38	chr10	86473887	86473888	+	Frame_Shift_Ins	INS	-	-	T																															gttcacttactgtgacactcINStgaggttttactactggtgg																								novel		C3L-00001_TP	C3L-00001_NB	-	-																c.1730dupA	p.Ser578GlufsTer16	p.S578Efs*16	ENST00000298767	5/19	81	73	8	130	130	0	sindel-pindel	WAPL,frameshift_variant,p.Ser578GlufsTer16,ENST00000298767,NM_001318328.1,NM_015045.2;WAPL,frameshift_variant,p.Ser578GlufsTer16,ENST00000618527,;WAPL,5_prime_UTR_variant,,ENST00000263070,;WAPL,upstream_gene_variant,,ENST00000489996,;	T	ENST00000298767	Transcript	frameshift_variant	2203-2204/6333	1730-1731/3573	577/1190	Q/QX	cag/caAg		1		-1	WAPL	HGNC	HGNC:23293	protein_coding	YES	CCDS7375.1	ENSP00000298767	Q7Z5K2		UPI00001AE41A	NM_001318328.1,NM_015045.2			5/19		hmmpanther:PTHR22100:SF13,hmmpanther:PTHR22100																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	5	86473887	86473887	-	T	1	0	1	1	0	0	0	0	0	17808	912	32	0		0	WAPL	10	86473887	Frame_Shift_Ins	INS	-	C3L-00001_TP		86473887	47323535	34	1863											
TRIM51	0	.	GRCh38	chr11	55885522	55885522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaccatagactgtgggCacagcttttgccggccctgt	7	10	11	13	1	1	1	1	0	0	1	1	1	1	1	3	2	2	2	3	2	1	3	novel		C3L-00001_TP	C3L-00001_NB	C	C																c.94C>A	p.His32Asn	p.H32N	ENST00000449290	2/7	377	335	42	221	221	0	varscan-mutect	TRIM51,missense_variant,p.His32Asn,ENST00000449290,NM_032681.3;TRIM51,upstream_gene_variant,,ENST00000244891,;RP11-738O11.9,downstream_gene_variant,,ENST00000533247,;	A	ENST00000449290	Transcript	missense_variant	186/1629	94/1359	32/452	H/N	Cac/Aac		1		1	TRIM51	HGNC	HGNC:19023	protein_coding	YES		ENSP00000395086	Q9BSJ1		UPI0000DFFA1E	NM_032681.3	deleterious(0.01)		2/7		PROSITE_profiles:PS50089,hmmpanther:PTHR24103:SF302,hmmpanther:PTHR24103,PROSITE_patterns:PS00518,Pfam_domain:PF15227,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	5	55885522	55885522	C	A	1	0	0	0	0	1	0	0	0	17019	710	25	2		2	TRIM51	11	55885522	Missense_Mutation	SNP	C	C3L-00001_TP		55885522	79201100	35	1864											
CD248	0	.	GRCh38	chr11	66315059	66315059	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggtgagggcagccacaGggccaacttgggactggggc	8	5	18	10	0	0	1	0	1	0	0	0	2	0	2	2	6	3	2	2	6	1	1	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.1969C>G	p.Leu657Val	p.L657V	ENST00000311330	1/1	35	18	17	21	21	0	strelka-varscan-mutect	CD248,missense_variant,p.Leu657Val,ENST00000311330,NM_020404.2;RP11-867G23.13,intron_variant,,ENST00000534065,;	C	ENST00000311330	Transcript	missense_variant	1986/2558	1969/2274	657/757	L/V	Ctg/Gtg		1		-1	CD248	HGNC	HGNC:18219	protein_coding	YES	CCDS8134.1	ENSP00000308117	Q9HCU0		UPI0000049803	NM_020404.2	tolerated(1)		1/1		Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												C	3	2	5	66315059	66315059	G	C	1	0	0	0	0	1	0	0	0	2693	991	35	4		4	CD248	11	66315059	Missense_Mutation	SNP	G	C3L-00001_TP	10429537	66315059	68771563	36	1865											
DIXDC1	0	.	GRCh38	chr11	111996144	111996144	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagtcctggccccctaactCaagtaagtacccatttttgc	9	11	8	13	0	1	0	1	0	0	0	2	1	2	1	4	2	3	2	4	2	4	5	novel		C3L-00001_TP	C3L-00001_NB	C	C																c.1754C>G	p.Ser585Ter	p.S585*	ENST00000440460	17/20	169	156	13	141	141	0	varscan-mutect	DIXDC1,stop_gained,p.Ser585Ter,ENST00000440460,NM_001037954.3;DIXDC1,stop_gained,p.Ser374Ter,ENST00000615255,NM_033425.4;DIXDC1,splice_region_variant,,ENST00000618522,;DIXDC1,splice_region_variant,,ENST00000526500,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000530645,;	G	ENST00000440460	Transcript	stop_gained,splice_region_variant	2051/5897	1754/2052	585/683	S/*	tCa/tGa		1		1	DIXDC1	HGNC	HGNC:23695	protein_coding	YES	CCDS73381.1	ENSP00000394352	Q155Q3		UPI000066DA69	NM_001037954.3			17/20		hmmpanther:PTHR10878,hmmpanther:PTHR10878:SF22																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	5	111996144	111996144	C	G	1	0	0	0	0	0	1	0	0	4348	840	29	4		4	DIXDC1	11	111996144	Nonsense_Mutation	SNP	C	C3L-00001_TP	45681085	111996144	23090478	37	1866											
PRB1	0	.	GRCh38	chr12	11353891	11353891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggctttcctggaggtgggGgaccttgaggtttgttgcct	3	14	17	7	0	0	1	0	1	0	0	1	3	1	3	3	6	1	3	3	6	0	4	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.212C>T	p.Pro71Leu	p.P71L	ENST00000500254	3/5	247	229	18	128	128	0	varscan-mutect	PRB1,missense_variant,p.Pro71Leu,ENST00000546254,;PRB1,missense_variant,p.Pro71Leu,ENST00000500254,NM_005039.3,NM_199353.2;PRB1,missense_variant,p.Pro71Leu,ENST00000545626,NM_199354.2;PRB1,missense_variant,p.Pro71Leu,ENST00000240636,;	A	ENST00000500254	Transcript	missense_variant	250/775	212/597	71/198	P/L	cCc/cTc		1		-1	PRB1	HGNC	HGNC:9337	protein_coding	YES	CCDS8642.1	ENSP00000420826		G5E9X6	UPI00002371B8	NM_005039.3,NM_199353.2	deleterious_low_confidence(0.04)		3/5		Low_complexity_(Seg):seg,hmmpanther:PTHR23203:SF2,hmmpanther:PTHR23203,Pfam_domain:PF15240,SMART_domains:SM01412																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	5	11353891	11353891	G	A	1	0	0	0	0	1	0	0	0	12573	1232	43	3		3	PRB1	12	11353891	Missense_Mutation	SNP	G	C3L-00001_TP		11353891	121921418	38	1867											
PLBD1	0	.	GRCh38	chr12	14567623	14567623	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgactaacaacagcggcAgcagcagcagcagcagcaga	14	2	13	12	2	0	2	0	1	0	1	0	2	0	2	0	2	9	7	0	2	2	1	rs746358861,rs773839439		C3L-00001_TP	C3L-00001_NB	A	A																c.74T>A	p.Leu25Gln	p.L25Q	ENST00000240617	1/11	129	121	8	110	109	1	varscan-mutect	PLBD1,missense_variant,p.Leu25Gln,ENST00000240617,NM_024829.5;PLBD1-AS1,upstream_gene_variant,,ENST00000542401,;PLBD1-AS1,upstream_gene_variant,,ENST00000545424,;PLBD1,missense_variant,p.Leu25Gln,ENST00000541618,;	T	ENST00000240617	Transcript	missense_variant	727/2426	74/1662	25/553	L/Q	cTg/cAg	rs746358861,rs773839439	1		-1	PLBD1	HGNC	HGNC:26215	protein_coding	YES	CCDS31751.1	ENSP00000240617	Q6P4A8		UPI00004565DA	NM_024829.5	deleterious_low_confidence(0.01)		1/11		hmmpanther:PTHR12370,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs773839439	.												T	3	4	5	14567623	14567623	A	T	1	0	0	0	0	1	0	0	0	12119	188	7	4		4	PLBD1	12	14567623	Missense_Mutation	SNP	A	C3L-00001_TP	3213732	14567623	118707686	39	1868											
RAN	0	.	GRCh38	chr12	130872839	130872839	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgtttttcaacagcttGtattggttggtgatggtggt	7	18	13	3	0	1	1	1	1	0	0	1	1	1	1	0	4	2	4	0	4	3	6	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.40G>C	p.Val14Leu	p.V14L	ENST00000543796	3/7	194	163	31	198	198	0	strelka-varscan-mutect	RAN,missense_variant,p.Val14Leu,ENST00000543796,NM_006325.4;RAN,missense_variant,p.Val32Leu,ENST00000448750,;RAN,missense_variant,p.Val14Leu,ENST00000392369,;RAN,missense_variant,p.Val14Leu,ENST00000392367,;RAN,missense_variant,p.Val10Leu,ENST00000535090,;RAN,5_prime_UTR_variant,,ENST00000541630,NM_001300796.1,NM_001300797.1;RAN,intron_variant,,ENST00000541679,;RNU6-1077P,upstream_gene_variant,,ENST00000410506,;RAN,missense_variant,p.Val29Leu,ENST00000536606,;RAN,non_coding_transcript_exon_variant,,ENST00000537745,;RAN,non_coding_transcript_exon_variant,,ENST00000477395,;RAN,non_coding_transcript_exon_variant,,ENST00000464211,;RAN,upstream_gene_variant,,ENST00000539498,;	C	ENST00000543796	Transcript	missense_variant	298/2661	40/651	14/216	V/L	Gta/Cta		1		1	RAN	HGNC	HGNC:9846	protein_coding	YES	CCDS9271.1	ENSP00000446215	P62826		UPI0000000DE2	NM_006325.4	tolerated(0.23)		3/7		Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51418,hmmpanther:PTHR24071,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	5	130872839	130872839	G	C	1	0	0	0	0	1	0	0	0	13183	1391	48	4		4	RAN	12	130872839	Missense_Mutation	SNP	G	C3L-00001_TP	116305216	130872839	2402470	40	1869											
KIAA0226L	0	.	GRCh38	chr13	46359522	46359522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaaatatgatttgaaatCtaggaggagcccagtcttca	14	13	8	6	0	3	2	1	2	2	0	3	4	3	4	1	2	1	0	1	2	6	6	novel		C3L-00001_TP	C3L-00001_NB	C	C																c.1229G>T	p.Arg410Ile	p.R410I	ENST00000429979	9/15	72	62	10	115	115	0	strelka-varscan-mutect	KIAA0226L,missense_variant,p.Arg410Ile,ENST00000429979,NM_025113.3;KIAA0226L,missense_variant,p.Arg410Ile,ENST00000389908,NM_001286761.1;KIAA0226L,missense_variant,p.Arg253Ile,ENST00000378781,NM_001286765.1;KIAA0226L,missense_variant,p.Arg195Ile,ENST00000378797,NM_001286766.1;KIAA0226L,missense_variant,p.Arg253Ile,ENST00000409879,;KIAA0226L,missense_variant,p.Arg410Ile,ENST00000378787,NM_001286762.1;KIAA0226L,missense_variant,p.Arg343Ile,ENST00000378784,NM_001286763.1;KIAA0226L,missense_variant,p.Arg275Ile,ENST00000631139,NM_001286764.1;KIAA0226L,3_prime_UTR_variant,,ENST00000441284,;	A	ENST00000429979	Transcript	missense_variant	1834/3979	1229/1989	410/662	R/I	aGa/aTa		1		-1	KIAA0226L	HGNC	HGNC:20420	protein_coding	YES	CCDS31970.2	ENSP00000396935	Q9H714		UPI00001FCD59	NM_025113.3	deleterious(0)		9/15		hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF14																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	5	46359522	46359522	C	A	1	0	0	0	0	1	0	0	0	8078	913	32	2		2	KIAA0226L	13	46359522	Missense_Mutation	SNP	C	C3L-00001_TP		46359522	68004806	41	1870											
SPRED1	0	.	GRCh38	chr15	38351313	38351313	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtcaaaacgaagaaaagaGgatggtgaacgttctcgctg	16	7	12	6	3	2	3	1	1	1	2	3	5	2	4	0	2	2	2	0	2	7	1	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.984G>A	p.=	p.E328E	ENST00000299084	7/7	341	286	55	417	417	0	strelka-varscan-mutect	SPRED1,synonymous_variant,p.=,ENST00000299084,NM_152594.2;	A	ENST00000299084	Transcript	synonymous_variant	1844/7780	984/1335	328/444	E	gaG/gaA		1		1	SPRED1	HGNC	HGNC:20249	protein_coding	YES	CCDS32193.1	ENSP00000299084	Q7Z699		UPI0000072FBD	NM_152594.2			7/7		hmmpanther:PTHR11202,hmmpanther:PTHR11202:SF18																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	5	38351313	38351313	G	A	1	0	0	0	0	0	0	0	1	15446	991	35	3		3	SPRED1	15	38351313	Silent	SNP	G	C3L-00001_TP		38351313	63639876	42	1871											
DET1	0	.	GRCh38	chr15	88530849	88530849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatgaaaggatccctaaagGgattggccatgcctgtctga	11	10	12	8	0	1	3	0	3	1	0	2	5	2	5	3	3	1	0	3	3	3	2			C3L-00001_TP	C3L-00001_NB	G	G																c.890C>T	p.Pro297Leu	p.P297L	ENST00000564406	3/6	77	64	13	62	62	0	strelka-varscan-mutect	DET1,missense_variant,p.Pro297Leu,ENST00000564406,NM_001321596.1,NM_017996.3;DET1,missense_variant,p.Pro286Leu,ENST00000268148,NM_001321596.1,NM_001144074.1;DET1,missense_variant,p.Pro297Leu,ENST00000444300,NM_001321596.1;DET1,3_prime_UTR_variant,,ENST00000558413,;DET1,downstream_gene_variant,,ENST00000559656,;DET1,3_prime_UTR_variant,,ENST00000557842,;DET1,3_prime_UTR_variant,,ENST00000557837,;	A	ENST00000564406	Transcript	missense_variant	1051/2315	890/1686	297/561	P/L	cCc/cTc	COSM3505064	1		-1	DET1	HGNC	HGNC:25477	protein_coding	YES	CCDS45343.1	ENSP00000456340	Q7L5Y6		UPI00001A8183	NM_001321596.1,NM_017996.3	deleterious(0.04)		3/6		hmmpanther:PTHR13374,Pfam_domain:PF09737											1						MODERATE	1	SNV	2		1	1										PASS		rs1321259346	.												A	3	1	5	88530849	88530849	G	A	1	0	0	0	0	1	0	0	0	4258	1232	43	3		3	DET1	15	88530849	Missense_Mutation	SNP	G	C3L-00001_TP	50179536	88530849	13460340	43	1872											
ZNF423	0	.	GRCh38	chr16	49636578	49636578	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttaagcagcatgccctgCaggtcagcaggctcagcttt	8	11	10	12	0	3	0	2	0	1	0	3	0	3	0	1	2	6	6	1	2	1	3	rs773540555		C3L-00001_TP	C3L-00001_NB	C	C																c.2574G>C	p.=	p.L858L	ENST00000561648	5/9	183	157	26	141	140	1	strelka-varscan-mutect	ZNF423,synonymous_variant,p.=,ENST00000561648,;ZNF423,synonymous_variant,p.=,ENST00000563137,;ZNF423,synonymous_variant,p.=,ENST00000262383,NM_015069.3;ZNF423,synonymous_variant,p.=,ENST00000562871,;ZNF423,synonymous_variant,p.=,ENST00000535559,;ZNF423,synonymous_variant,p.=,ENST00000562520,NM_001271620.1;ZNF423,synonymous_variant,p.=,ENST00000567169,;	G	ENST00000561648	Transcript	synonymous_variant	2875/7907	2574/3855	858/1284	L	ctG/ctC	rs773540555	1		-1	ZNF423	HGNC	HGNC:16762	protein_coding	YES	CCDS32445.1	ENSP00000455426	Q2M1K9		UPI0000353ABC				5/9		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF210																	LOW	1	SNV	5			1										PASS		rs773540555	.												G	2	3	5	49636578	49636578	C	G	1	0	0	0	0	0	0	0	1	18470	697	25	4		4	ZNF423	16	49636578	Silent	SNP	C	C3L-00001_TP		49636578	40701767	44	1873											
EXOC3L1	0	.	GRCh38	chr16	67187125	67187125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggccccaactccaggctccCcatcatttcctgcctggaga	8	8	8	17	0	1	1	1	0	0	1	4	2	4	1	7	3	2	1	7	3	1	1	novel		C3L-00001_TP	C3L-00001_NB	C	C																c.1054G>A	p.Gly352Arg	p.G352R	ENST00000314586	6/14	156	85	71	99	99	0	strelka-varscan-mutect	EXOC3L1,missense_variant,p.Gly352Arg,ENST00000314586,NM_178516.3;EXOC3L1,missense_variant,p.Gly291Arg,ENST00000545725,;EXOC3L1,missense_variant,p.Gly296Arg,ENST00000563889,;KIAA0895L,upstream_gene_variant,,ENST00000290881,;KIAA0895L,upstream_gene_variant,,ENST00000561621,;KIAA0895L,upstream_gene_variant,,ENST00000563902,NM_001040715.1;EXOC3L1,downstream_gene_variant,,ENST00000564418,;EXOC3L1,non_coding_transcript_exon_variant,,ENST00000562887,;KIAA0895L,upstream_gene_variant,,ENST00000563831,;KIAA0895L,upstream_gene_variant,,ENST00000564423,;EXOC3L1,missense_variant,p.Gly74Glu,ENST00000564324,;EXOC3L1,upstream_gene_variant,,ENST00000563536,;	T	ENST00000314586	Transcript	missense_variant	1295/2510	1054/2241	352/746	G/R	Ggg/Agg		1		-1	EXOC3L1	HGNC	HGNC:27540	protein_coding	YES	CCDS10832.1	ENSP00000325674	Q86VI1	A0A024R6U6	UPI000013F886	NM_178516.3	deleterious(0)		6/14		hmmpanther:PTHR21292:SF12,hmmpanther:PTHR21292,Pfam_domain:PF06046																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	5	67187125	67187125	C	T	1	0	0	0	0	1	0	0	0	5171	623	22	3		3	EXOC3L1	16	67187125	Missense_Mutation	SNP	C	C3L-00001_TP	17550547	67187125	23151220	45	1874											
CTNS	0	.	GRCh38	chr17	3648865	3648865	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggccaccattaaatgcaacCctggtgatcacttttgaaat	13	11	7	10	0	1	2	1	2	0	0	1	2	1	2	3	2	2	1	3	2	4	3	rs769818124		C3L-00001_TP	C3L-00001_NB	C	C																c.159C>T	p.=	p.T53T	ENST00000381870	5/13	367	262	105	429	428	1	strelka-varscan-mutect	CTNS,synonymous_variant,p.=,ENST00000046640,NM_004937.2;CTNS,synonymous_variant,p.=,ENST00000381870,NM_001031681.2;CTNS,synonymous_variant,p.=,ENST00000399306,;CTNS,synonymous_variant,p.=,ENST00000452111,;CTNS,synonymous_variant,p.=,ENST00000576979,;CTNS,intron_variant,,ENST00000574218,;CTNS,intron_variant,,ENST00000574776,;CTNS,non_coding_transcript_exon_variant,,ENST00000488623,;CTNS,intron_variant,,ENST00000467663,;CTNS,downstream_gene_variant,,ENST00000495445,;	T	ENST00000381870	Transcript	synonymous_variant	618/2470	159/1203	53/400	T	acC/acT	rs769818124	1		1	CTNS	HGNC	HGNC:2518	protein_coding	YES	CCDS32530.1	ENSP00000371294	O60931	A0A0S2Z3I9	UPI0000366B8B	NM_001031681.2			5/13		hmmpanther:PTHR13131,hmmpanther:PTHR13131:SF9																	LOW	1	SNV	1			1										PASS		rs769818124	.												T	2	4	5	3648865	3648865	C	T	1	0	0	0	0	0	0	0	1	3830	610	22	3		3	CTNS	17	3648865	Silent	SNP	C	C3L-00001_TP		3648865	79608576	46	1875											
CACNB1	0	.	GRCh38	chr17	39183814	39183814	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatccagagcgaccaactGaagggtccgggccagctcga	11	4	13	13	3	0	2	0	1	0	1	3	4	2	2	4	2	4	2	4	2	2	0	rs370280712		C3L-00001_TP	C3L-00001_NB	G	G																c.949C>T	p.Gln317Ter	p.Q317*	ENST00000394303	11/14	122	105	17	72	72	0	strelka-varscan-mutect	CACNB1,stop_gained,p.Gln317Ter,ENST00000394303,NM_000723.4;CACNB1,stop_gained,p.Gln362Ter,ENST00000344140,NM_199247.2;CACNB1,stop_gained,p.Gln317Ter,ENST00000394310,NM_199248.2;CACNB1,3_prime_UTR_variant,,ENST00000622445,;CACNB1,downstream_gene_variant,,ENST00000582877,;CACNB1,downstream_gene_variant,,ENST00000492737,;CACNB1,downstream_gene_variant,,ENST00000577582,;CACNB1,non_coding_transcript_exon_variant,,ENST00000539338,;CACNB1,downstream_gene_variant,,ENST00000536613,;	A	ENST00000394303	Transcript	stop_gained	1157/3742	949/1797	317/598	Q/*	Cag/Tag	rs370280712	1		-1	CACNB1	HGNC	HGNC:1401	protein_coding	YES	CCDS42311.1	ENSP00000377840	Q02641		UPI0000127290	NM_000723.4			11/14		Gene3D:3.40.50.300,Pfam_domain:PF00625,Prints_domain:PR01626,hmmpanther:PTHR11824,hmmpanther:PTHR11824:SF6,SMART_domains:SM00072,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		rs370280712	.												A	4	1	5	39183814	39183814	G	A	1	0	0	0	0	0	1	0	0	2240	1299	45	3		3	CACNB1	17	39183814	Nonsense_Mutation	SNP	G	C3L-00001_TP	35534949	39183814	44073627	47	1876											
SMARCA4	0	.	GRCh38	chr19	11041529	11041529	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaagaagatgaagaagAttgtggatgccgtgatcaag	15	8	12	6	1	2	6	2	2	0	4	2	7	2	7	2	1	1	0	2	1	5	1	novel		C3L-00001_TP	C3L-00001_NB	A	A																c.4393A>G	p.Ile1465Val	p.I1465V	ENST00000429416	31/36	212	174	38	153	153	0	strelka-varscan-mutect	SMARCA4,missense_variant,p.Ile1465Val,ENST00000429416,NM_001128844.1;SMARCA4,missense_variant,p.Ile1499Val,ENST00000413806,;SMARCA4,missense_variant,p.Ile1497Val,ENST00000450717,NM_001128849.1;SMARCA4,missense_variant,p.Ile1465Val,ENST00000344626,NM_003072.3;SMARCA4,missense_variant,p.Ile1432Val,ENST00000590574,NM_001128847.1;SMARCA4,missense_variant,p.Ile1435Val,ENST00000589677,NM_001128846.1;SMARCA4,missense_variant,p.Ile1435Val,ENST00000541122,NM_001128845.1;SMARCA4,missense_variant,p.Ile1432Val,ENST00000444061,NM_001128848.1;SMARCA4,downstream_gene_variant,,ENST00000592158,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000538456,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;	G	ENST00000429416	Transcript	missense_variant	4674/5691	4393/4944	1465/1647	I/V	Att/Gtt		1		1	SMARCA4	HGNC	HGNC:11100	protein_coding	YES	CCDS12253.1	ENSP00000395654	P51532	A7E2E1	UPI000006F973	NM_001128844.1	tolerated(0.14)		31/36		Gene3D:1.20.920.10,SMART_domains:SM00297,Superfamily_domains:SSF47370																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	5	11041529	11041529	A	G	1	0	0	0	0	1	0	0	0	15063	333	12	5		5	SMARCA4	19	11041529	Missense_Mutation	SNP	A	C3L-00001_TP		11041529	47576087	48	1877											
PSG5	0	.	GRCh38	chr19	43175449	43175449	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggtgaatgaagggtaaaTgctggggaggtctggaccat	12	9	16	4	0	1	2	0	2	1	0	1	4	1	4	1	6	1	2	1	6	5	2	novel		C3L-00001_TP	C3L-00001_NB	T	T																c.730A>T	p.Ile244Phe	p.I244F	ENST00000366175	4/6	69	60	9	58	58	0	strelka-varscan-mutect	PSG5,missense_variant,p.Ile244Phe,ENST00000404580,;PSG5,missense_variant,p.Ile337Phe,ENST00000599812,;PSG5,missense_variant,p.Ile244Phe,ENST00000366175,;PSG5,missense_variant,p.Ile244Phe,ENST00000342951,NM_001130014.1,NM_002781.3;PSG5,missense_variant,p.Ile244Phe,ENST00000407356,;PSG5,intron_variant,,ENST00000407568,;CTC-490G23.6,downstream_gene_variant,,ENST00000635495,;PSG5,downstream_gene_variant,,ENST00000489220,;PSG5,downstream_gene_variant,,ENST00000600817,;PSG5,upstream_gene_variant,,ENST00000401942,;PSG5,upstream_gene_variant,,ENST00000599214,;	A	ENST00000366175	Transcript	missense_variant	861/1766	730/1008	244/335	I/F	Att/Ttt		1		-1	PSG5	HGNC	HGNC:9522	protein_coding	YES	CCDS12617.1	ENSP00000382334	Q15238	A0A024R0S1	UPI000013C7B9		deleterious(0.01)		4/6		Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF615																	MODERATE	1	SNV	5			1										PASS		rs963405808	.												A	3	1	5	43175449	43175449	T	A	1	0	0	0	0	1	0	0	0	12809	1464	51	4		4	PSG5	19	43175449	Missense_Mutation	SNP	T	C3L-00001_TP	32133920	43175449	15442167	49	1878											
ZNF611	0	.	GRCh38	chr19	52705306	52705306	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactatgaactctatgatgGcatacaaggtatgacctgtg	12	11	9	9	0	1	3	0	3	1	0	1	3	1	3	2	2	2	2	2	2	6	4			C3L-00001_TP	C3L-00001_NB	G	G																c.1749C>A	p.Cys583Ter	p.C583*	ENST00000543227	6/6	172	163	9	155	154	1	varscan-mutect	ZNF611,stop_gained,p.Cys583Ter,ENST00000543227,NM_001161499.1;ZNF611,stop_gained,p.Cys583Ter,ENST00000540744,NM_001161500.1;ZNF611,stop_gained,p.Cys514Ter,ENST00000453741,NM_001161501.1;ZNF611,stop_gained,p.Cys514Ter,ENST00000602162,;ZNF611,stop_gained,p.Cys583Ter,ENST00000319783,NM_030972.3;ZNF611,stop_gained,p.Cys514Ter,ENST00000595798,;ZNF611,downstream_gene_variant,,ENST00000600943,;ZNF611,downstream_gene_variant,,ENST00000596702,;ZNF611,downstream_gene_variant,,ENST00000601643,;ZNF611,downstream_gene_variant,,ENST00000602046,;ZNF611,3_prime_UTR_variant,,ENST00000595001,;ZNF611,3_prime_UTR_variant,,ENST00000601249,;ZNF611,downstream_gene_variant,,ENST00000597343,;ZNF611,downstream_gene_variant,,ENST00000598639,;ZNF611,downstream_gene_variant,,ENST00000598723,;	T	ENST00000543227	Transcript	stop_gained	2024/4517	1749/2118	583/705	C/*	tgC/tgA	COSM567649	1		-1	ZNF611	HGNC	HGNC:28766	protein_coding	YES	CCDS12855.1	ENSP00000437616	Q8N823		UPI00001406C1	NM_001161499.1			6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF375,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						HIGH	1	SNV	4		1	1										PASS		.	.												T	4	4	5	52705306	52705306	G	T	1	0	0	0	0	0	1	0	0	18612	1195	42	2		2	ZNF611	19	52705306	Nonsense_Mutation	SNP	G	C3L-00001_TP	9529857	52705306	5912310	50	1879											
ZNF320	0	.	GRCh38	chr19	52881956	52881956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgccctgttgatgacaatGtattcatcatgcatttggaa	10	15	8	8	0	2	2	2	2	0	0	2	3	2	3	1	1	2	3	1	1	3	5	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.170C>A	p.Thr57Lys	p.T57K	ENST00000595635	8/8	32	21	11	46	46	0	strelka-varscan-mutect	ZNF320,missense_variant,p.Thr57Lys,ENST00000595635,;ZNF320,missense_variant,p.Thr57Lys,ENST00000391781,NM_207333.2;CTD-2331H12.8,missense_variant,p.Thr57Lys,ENST00000634278,;ZNF320,missense_variant,p.Thr57Lys,ENST00000593618,;ZNF320,missense_variant,p.Thr57Lys,ENST00000594741,;ZNF320,missense_variant,p.Thr57Lys,ENST00000597265,;ZNF320,intron_variant,,ENST00000597091,;ZNF320,intron_variant,,ENST00000597909,;ZNF320,intron_variant,,ENST00000600930,;ZNF320,upstream_gene_variant,,ENST00000598199,;	T	ENST00000595635	Transcript	missense_variant	672/6448	170/1530	57/509	T/K	aCa/aAa		1		-1	ZNF320	HGNC	HGNC:13842	protein_coding	YES	CCDS33095.1	ENSP00000473091	A2RRD8		UPI00004EC06C		tolerated(0.63)		8/8		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF197,SMART_domains:SM00349																	MODERATE	1	SNV	2			1										PASS		rs996721800	.												T	3	4	5	52881956	52881956	G	T	1	0	0	0	0	1	0	0	0	18414	1377	48	2		2	ZNF320	19	52881956	Missense_Mutation	SNP	G	C3L-00001_TP	176650	52881956	5735660	51	1880											
CCDC106	0	.	GRCh38	chr19	55652580	55652580	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccgagctgctcattgtggCccccgagaagctggccgagg	6	6	15	14	4	1	1	1	0	0	1	1	4	1	1	4	3	3	3	4	3	1	1	rs755935967		C3L-00001_TP	C3L-00001_NB	C	C																c.677C>G	p.Ala226Gly	p.A226G	ENST00000586790	5/5	456	388	68	298	298	0	strelka-varscan-mutect	CCDC106,missense_variant,p.Ala226Gly,ENST00000586790,;CCDC106,missense_variant,p.Ala226Gly,ENST00000591578,;CCDC106,missense_variant,p.Ala226Gly,ENST00000308964,NM_013301.2;CCDC106,missense_variant,p.Ala226Gly,ENST00000588740,;CCDC106,missense_variant,p.Ala191Gly,ENST00000591241,;U2AF2,upstream_gene_variant,,ENST00000450554,NM_001012478.1;U2AF2,upstream_gene_variant,,ENST00000308924,NM_007279.2;CCDC106,downstream_gene_variant,,ENST00000592996,;CCDC106,downstream_gene_variant,,ENST00000587213,;CCDC106,downstream_gene_variant,,ENST00000593069,;U2AF2,upstream_gene_variant,,ENST00000587196,;CCDC106,downstream_gene_variant,,ENST00000586864,;U2AF2,upstream_gene_variant,,ENST00000588850,;	G	ENST00000586790	Transcript	missense_variant	1581/2162	677/843	226/280	A/G	gCc/gGc	rs755935967	1		1	CCDC106	HGNC	HGNC:30181	protein_coding	YES	CCDS33118.1	ENSP00000465757	Q9BWC9		UPI0000072074		tolerated(0.13)		5/5		Pfam_domain:PF15794,hmmpanther:PTHR16477,hmmpanther:PTHR16477:SF2																	MODERATE	1	SNV	1			1										PASS		rs755935967	.												G	3	3	5	55652580	55652580	C	G	1	0	0	0	0	1	0	0	0	2438	739	26	4		4	CCDC106	19	55652580	Missense_Mutation	SNP	C	C3L-00001_TP	2770624	55652580	2965036	52	1881											
ABCG1	0	.	GRCh38	chr21	42259371	42259371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctaaactggagagctcaGtgtttgtgacagactgcgtg	9	11	13	8	1	1	3	1	1	0	2	1	4	1	3	0	1	4	3	0	1	2	2	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.442G>A	p.Val148Met	p.V148M	ENST00000398437	2/16	97	85	12	52	52	0	strelka-mutect	ABCG1,missense_variant,p.Val148Met,ENST00000398437,;ABCG1,intron_variant,,ENST00000398457,NM_207627.1,NM_207628.1;ABCG1,intron_variant,,ENST00000343687,NM_207174.1;ABCG1,intron_variant,,ENST00000361802,NM_004915.3;ABCG1,intron_variant,,ENST00000398449,NM_016818.2;ABCG1,intron_variant,,ENST00000347800,NM_207629.1;ABCG1,intron_variant,,ENST00000450121,;ABCG1,intron_variant,,ENST00000462050,;	A	ENST00000398437	Transcript	missense_variant	590/3475	442/2475	148/824	V/M	Gtg/Atg		1		1	ABCG1	HGNC	HGNC:73	protein_coding			ENSP00000381464		E9PGV9	UPI000035AC75				2/16																			MODERATE		SNV	1			1										PASS		.	.												A	3	1	5	42259371	42259371	G	A	1	0	0	0	0	1	0	0	0	72	1029	36	3		3	ABCG1	21	42259371	Missense_Mutation	SNP	G	C3L-00001_TP		42259371	4450612	53	1882											
SCUBE1	0	.	GRCh38	chr22	43262809	43262809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgtctcccggcagatgtggGcacagccatggtctttgttc	5	11	13	12	2	2	1	0	0	2	1	4	1	2	1	2	3	1	3	2	3	0	2	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.521C>T	p.Ala174Val	p.A174V	ENST00000360835	5/22	180	164	16	169	168	1	strelka-varscan-mutect	SCUBE1,missense_variant,p.Ala174Val,ENST00000360835,NM_173050.3;SCUBE1,missense_variant,p.Ala174Val,ENST00000290460,;SCUBE1,missense_variant,p.Ala174Val,ENST00000615096,;SCUBE1,upstream_gene_variant,,ENST00000449304,;	A	ENST00000360835	Transcript	missense_variant	648/9808	521/2967	174/988	A/V	gCc/gTc		1		-1	SCUBE1	HGNC	HGNC:13441	protein_coding	YES	CCDS14048.1	ENSP00000354080	Q8IWY4		UPI000020790F	NM_173050.3	tolerated(0.1)		5/22		Gene3D:2.10.25.10,hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF4,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	5	43262809	43262809	G	A	1	0	0	0	0	1	0	0	0	14215	1203	42	3		3	SCUBE1	22	43262809	Missense_Mutation	SNP	G	C3L-00001_TP		43262809	7555659	54	1883											
MAPK12	0	.	GRCh38	chr22	50255504	50255504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaatccttcttctccaattCggggaggcccttcatgtagt	9	13	8	11	1	3	0	1	0	2	0	6	1	4	1	3	3	0	1	3	3	4	5	rs774930213		C3L-00001_TP	C3L-00001_NB	C	C																c.799G>A	p.Glu267Lys	p.E267K	ENST00000215659	10/12	159	145	14	130	129	1	strelka-varscan-mutect	MAPK12,missense_variant,p.Glu267Lys,ENST00000215659,NM_002969.4;MAPK12,missense_variant,p.Glu257Lys,ENST00000622558,NM_001303252.1;MAPK12,missense_variant,p.Glu177Lys,ENST00000395780,;HDAC10,upstream_gene_variant,,ENST00000216271,NM_032019.5;HDAC10,upstream_gene_variant,,ENST00000626012,;HDAC10,upstream_gene_variant,,ENST00000448072,;HDAC10,upstream_gene_variant,,ENST00000349505,NM_001159286.1;MAPK12,downstream_gene_variant,,ENST00000395778,;MAPK12,non_coding_transcript_exon_variant,,ENST00000497036,;HDAC10,upstream_gene_variant,,ENST00000498366,;HDAC10,upstream_gene_variant,,ENST00000483222,;HDAC10,upstream_gene_variant,,ENST00000470965,;HDAC10,upstream_gene_variant,,ENST00000489424,;HDAC10,upstream_gene_variant,,ENST00000496909,;HDAC10,upstream_gene_variant,,ENST00000497483,;MAPK12,downstream_gene_variant,,ENST00000492218,;MAPK12,non_coding_transcript_exon_variant,,ENST00000496942,;MAPK12,non_coding_transcript_exon_variant,,ENST00000482969,;MAPK12,non_coding_transcript_exon_variant,,ENST00000497738,;MAPK12,non_coding_transcript_exon_variant,,ENST00000467891,;MAPK12,non_coding_transcript_exon_variant,,ENST00000488504,;HDAC10,upstream_gene_variant,,ENST00000415993,;HDAC10,upstream_gene_variant,,ENST00000454936,;HDAC10,upstream_gene_variant,,ENST00000429374,;HDAC10,upstream_gene_variant,,ENST00000482213,;	T	ENST00000215659	Transcript	missense_variant	1115/1918	799/1104	267/367	E/K	Gaa/Aaa	rs774930213,COSM1417054,COSM1417055	1		-1	MAPK12	HGNC	HGNC:6874	protein_coding	YES	CCDS14089.1	ENSP00000215659	P53778		UPI000012F180	NM_002969.4	tolerated(1)		10/12		PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF146,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs774930213	.												T	3	4	5	50255504	50255504	C	T	1	0	0	0	0	1	0	0	0	9198	893	31	1		1	MAPK12	22	50255504	Missense_Mutation	SNP	C	C3L-00001_TP	6992695	50255504	562964	55	1884											
AKAP4	0	.	GRCh38	chrX	50193296	50193296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtccctctctttcatttCagctttcatggtggagaatt	6	19	7	9	0	4	1	3	0	1	1	6	2	5	1	1	2	1	1	1	2	1	5	novel		C3L-00001_TP	C3L-00001_NB	C	C																c.1417G>A	p.Glu473Lys	p.E473K	ENST00000358526	5/6	225	201	24	196	196	0	strelka-varscan-mutect	AKAP4,missense_variant,p.Glu473Lys,ENST00000358526,NM_003886.2;AKAP4,missense_variant,p.Glu464Lys,ENST00000376064,NM_139289.1;AKAP4,intron_variant,,ENST00000448865,;AKAP4,downstream_gene_variant,,ENST00000437370,;AKAP4,non_coding_transcript_exon_variant,,ENST00000481402,;AKAP4,downstream_gene_variant,,ENST00000480926,;	T	ENST00000358526	Transcript	missense_variant	1541/2881	1417/2565	473/854	E/K	Gaa/Aaa		1		-1	AKAP4	HGNC	HGNC:374	protein_coding	YES	CCDS14329.1	ENSP00000351327	Q5JQC9		UPI000013DA96	NM_003886.2	deleterious(0.04)		5/6		hmmpanther:PTHR10226:SF8,hmmpanther:PTHR10226,Pfam_domain:PF05716,SMART_domains:SM00807																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	5	50193296	50193296	C	T	1	0	0	0	0	1	0	0	0	537	835	29	3		3	AKAP4	23	50193296	Missense_Mutation	SNP	C	C3L-00001_TP		50193296	105847599	56	1885											
GLRA4	0	.	GRCh38	chrX	103728191	103728191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaggagagggttgcaggaaCaagagttgtcattctgcggg	11	8	17	5	1	2	2	1	0	1	2	2	5	2	3	0	4	3	3	0	4	3	3	novel		C3L-00001_TP	C3L-00001_NB	C	C																c.13G>T	p.Val5Phe	p.V5F	ENST00000372617	1/9	224	207	17	165	164	1	strelka-varscan-mutect	GLRA4,missense_variant,p.Val5Phe,ENST00000372617,NM_001024452.2;GLRA4,missense_variant,p.Val5Phe,ENST00000436213,;GLRA4,non_coding_transcript_exon_variant,,ENST00000480725,;	A	ENST00000372617	Transcript	missense_variant	434/1795	13/1254	5/417	V/F	Gtt/Ttt		1		-1	GLRA4	HGNC	HGNC:31715	protein_coding	YES	CCDS43980.2	ENSP00000361700	Q5JXX5		UPI000188140C	NM_001024452.2	tolerated_low_confidence(0.1)		1/9		Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	5	103728191	103728191	C	A	1	0	0	0	0	1	0	0	0	6336	478	17	2		2	GLRA4	23	103728191	Missense_Mutation	SNP	C	C3L-00001_TP	53534895	103728191	52312704	57	1886											
AF011889.5	0	.	GRCh38	chrX	149483000	149483000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggatgtctgaaggccgggGatactggctataggcaatca	11	8	15	7	1	2	1	1	1	1	0	2	3	2	3	1	6	1	2	1	6	5	3	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.1399C>A	p.Pro467Thr	p.P467T	ENST00000340855	9/9	142	128	14	129	129	0	strelka-varscan-mutect	IDS,missense_variant,p.Pro467Thr,ENST00000340855,NM_001166550.2,NM_000202.6;AF011889.5,missense_variant,p.Pro256Thr,ENST00000422081,;IDS,downstream_gene_variant,,ENST00000370441,NM_006123.4;IDS,downstream_gene_variant,,ENST00000490775,;AF011889.5,downstream_gene_variant,,ENST00000441880,;IDS,downstream_gene_variant,,ENST00000466323,;IDS,downstream_gene_variant,,ENST00000464251,;	T	ENST00000340855	Transcript	missense_variant	1609/7619	1399/1653	467/550	P/T	Ccc/Acc		1		-1	IDS	HGNC	HGNC:5389	protein_coding	YES	CCDS14685.1	ENSP00000339801	P22304		UPI000012D213	NM_001166550.2,NM_000202.6	deleterious(0)		9/9		hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF207																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	5	149483000	149483000	G	T	1	0	0	0	0	1	0	0	0	428	1174	41	2		2	AF011889.5	23	149483000	Missense_Mutation	SNP	G	C3L-00001_TP	45754809	149483000	6557895	58	1887											
ZFP92	0	.	GRCh38	chrX	153421328	153421328	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcagccacagcggcgaGcggcccttcgcgtgccgcga	6	3	15	17	8	0	0	0	0	0	0	1	2	0	0	3	2	5	1	3	2	0	1	novel		C3L-00001_TP	C3L-00001_NB	G	G																c.951G>C	p.Glu317Asp	p.E317D	ENST00000338647	4/4	252	193	59	140	140	0	strelka-varscan-mutect	ZFP92,missense_variant,p.Glu317Asp,ENST00000338647,NM_001136273.1;	C	ENST00000338647	Transcript	missense_variant	952/6105	951/1251	317/416	E/D	gaG/gaC		1		1	ZFP92	HGNC	HGNC:12865	protein_coding	YES	CCDS59177.1	ENSP00000462054	A6NM28		UPI000052B478	NM_001136273.1	tolerated(0.16)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF167,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	5	153421328	153421328	G	C	1	0	0	0	0	1	0	0	0	18233	962	34	4		4	ZFP92	23	153421328	Missense_Mutation	SNP	G	C3L-00001_TP	3938328	153421328	2619567	59	1888											
MEGF6	0	.	GRCh38	chr1	3499160	3499160	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcaggcaggagggccccatCcagccaggggcacagtggca	9	3	16	13	0	0	0	0	0	0	0	1	1	1	1	4	6	2	4	4	6	0	0	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.3072G>C	p.Trp1024Cys	p.W1024C	ENST00000356575	24/37	275	239	36	352	352	0	strelka-varscan-mutect	MEGF6,missense_variant,p.Trp1024Cys,ENST00000356575,NM_001409.3;MEGF6,intron_variant,,ENST00000294599,;MEGF6,upstream_gene_variant,,ENST00000491842,;MEGF6,missense_variant,p.Trp1031Cys,ENST00000485002,;MEGF6,upstream_gene_variant,,ENST00000475790,;MEGF6,upstream_gene_variant,,ENST00000461795,;	G	ENST00000356575	Transcript	missense_variant	3299/5455	3072/4626	1024/1541	W/C	tgG/tgC		1		-1	MEGF6	HGNC	HGNC:3232	protein_coding	YES	CCDS41237.1	ENSP00000348982	O75095		UPI0000DACACB	NM_001409.3	deleterious(0)		24/37		PROSITE_profiles:PS50026,hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF106,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,Gene3D:2.10.25.10,SMART_domains:SM00180,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		rs1182548009	.												G	3	3	6	3499160	3499160	C	G	1	0	0	0	0	1	0	0	0	9402	856	30	4		4	MEGF6	1	3499160	Missense_Mutation	SNP	C	C3L-00009_TP		3499160	245457262	1	1889											
CAMTA1	0	.	GRCh38	chr1	7738280	7738280	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggaattccaaagatctttAcattggtgtgtctacagtac	11	14	9	7	0	2	1	0	0	2	1	3	2	3	2	1	2	3	1	1	2	5	6	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.3980A>T	p.Tyr1327Phe	p.Y1327F	ENST00000303635	16/23	270	249	21	366	366	0	strelka-varscan-mutect	CAMTA1,missense_variant,p.Tyr1327Phe,ENST00000303635,NM_015215.3;CAMTA1,missense_variant,p.Tyr284Phe,ENST00000495233,;	T	ENST00000303635	Transcript	missense_variant	4187/8444	3980/5022	1327/1673	Y/F	tAc/tTc		1		1	CAMTA1	HGNC	HGNC:18806	protein_coding	YES	CCDS30576.1	ENSP00000306522	Q9Y6Y1		UPI00001C1D72	NM_015215.3	tolerated_low_confidence(0.28)		16/23																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	7738280	7738280	A	T	1	0	0	0	0	1	0	0	0	2306	391	14	4		4	CAMTA1	1	7738280	Missense_Mutation	SNP	A	C3L-00009_TP	4239120	7738280	241218142	2	1890											
CLSTN1	0	.	GRCh38	chr1	9733422	9733422	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaccttaaattcgttgctGatgtagcggccattcagctc	8	13	8	12	2	1	1	1	1	0	0	4	1	2	1	3	1	3	4	3	1	3	5	rs372309624		C3L-00009_TP	C3L-00009_NB	G	G																c.2406C>T	p.=	p.I802I	ENST00000377298	16/19	221	206	15	310	310	0	strelka-varscan-mutect	CLSTN1,synonymous_variant,p.=,ENST00000377298,NM_001302883.1,NM_001009566.2;CLSTN1,synonymous_variant,p.=,ENST00000361311,NM_014944.4;CLSTN1,synonymous_variant,p.=,ENST00000435891,;PIK3CD,downstream_gene_variant,,ENST00000536656,;PIK3CD,downstream_gene_variant,,ENST00000628140,;PIK3CD,downstream_gene_variant,,ENST00000377346,NM_005026.3;CLSTN1,non_coding_transcript_exon_variant,,ENST00000477264,;	A	ENST00000377298	Transcript	synonymous_variant	3199/5221	2406/2946	802/981	I	atC/atT	rs372309624	1		-1	CLSTN1	HGNC	HGNC:17447	protein_coding	YES	CCDS30580.1	ENSP00000366513	O94985		UPI0000127B95	NM_001302883.1,NM_001009566.2			16/19		hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF4																	LOW	1	SNV	1			1										PASS		rs372309624	.												A	2	1	6	9733422	9733422	G	A	1	0	0	0	0	0	0	0	1	3333	1280	45	3		3	CLSTN1	1	9733422	Silent	SNP	G	C3L-00009_TP	1995142	9733422	239223000	3	1891											
MAD2L2	0	.	GRCh38	chr1	11675117	11675117	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatggtttttagtggtaTcagccgggggtcatgcatgt	6	14	14	7	2	3	0	3	0	0	0	3	0	3	0	1	4	2	3	1	4	2	4	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.559A>G	p.Ile187Val	p.I187V	ENST00000235310	10/11	45	37	8	83	83	0	strelka-mutect	MAD2L2,missense_variant,p.Ile187Val,ENST00000235310,;MAD2L2,missense_variant,p.Ile187Val,ENST00000376692,NM_006341.3;MAD2L2,missense_variant,p.Ile200Val,ENST00000376672,;MAD2L2,missense_variant,p.Ile187Val,ENST00000376667,NM_001127325.1;MAD2L2,missense_variant,p.Ile200Val,ENST00000376669,;FBXO6,downstream_gene_variant,,ENST00000376753,NM_018438.5;MAD2L2,downstream_gene_variant,,ENST00000456915,;FBXO6,downstream_gene_variant,,ENST00000449067,;MAD2L2,downstream_gene_variant,,ENST00000445656,;MAD2L2,downstream_gene_variant,,ENST00000376655,;MAD2L2,downstream_gene_variant,,ENST00000376664,;FBXO6,downstream_gene_variant,,ENST00000474239,;	C	ENST00000235310	Transcript	missense_variant	1488/1860	559/636	187/211	I/V	Ata/Gta		1		-1	MAD2L2	HGNC	HGNC:6764	protein_coding	YES	CCDS134.1	ENSP00000235310	Q9UI95	A0A024R4I4	UPI0000000DF1		tolerated(0.59)		10/11		PROSITE_profiles:PS50815,hmmpanther:PTHR11842,hmmpanther:PTHR11842:SF10,Gene3D:1go4B00																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	6	11675117	11675117	T	C	1	0	0	0	0	1	0	0	0	9066	1435	50	5		5	MAD2L2	1	11675117	Missense_Mutation	SNP	T	C3L-00009_TP	1941695	11675117	237281305	4	1892											
CROCC	0	.	GRCh38	chr1	16922734	16922734	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcccaggacgctcagatCaccagcctgcctgcccttat	7	8	9	17	1	2	1	2	0	0	1	2	2	2	2	5	2	3	1	5	2	1	1	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.132C>T	p.=	p.I44I	ENST00000375541	2/37	121	100	21	139	139	0	strelka-varscan-mutect	CROCC,synonymous_variant,p.=,ENST00000375541,NM_014675.4;CROCC,upstream_gene_variant,,ENST00000445545,;CROCC,upstream_gene_variant,,ENST00000467938,;CROCC,intron_variant,,ENST00000466256,;	T	ENST00000375541	Transcript	synonymous_variant	201/6656	132/6054	44/2017	I	atC/atT		1		1	CROCC	HGNC	HGNC:21299	protein_coding	YES	CCDS30616.1	ENSP00000364691	Q5TZA2		UPI000042B0BB	NM_014675.4			2/37																			LOW	1	SNV	5			1										PASS		rs1200846158	.												T	2	4	6	16922734	16922734	C	T	1	0	0	0	0	0	0	0	1	3694	816	29	3		3	CROCC	1	16922734	Silent	SNP	C	C3L-00009_TP	5247617	16922734	232033688	5	1893											
UBXN11	0	.	GRCh38	chr1	26282874	26282874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgccctcacctctctcgctCagcggccaaggtgggcgtct	4	8	11	18	4	4	0	2	0	2	0	6	0	4	0	4	3	1	1	4	3	1	0			C3L-00009_TP	C3L-00009_NB	C	C																c.1141G>A	p.Glu381Lys	p.E381K	ENST00000374222	14/16	223	174	49	335	335	0	strelka-varscan-mutect	UBXN11,missense_variant,p.Glu261Lys,ENST00000314675,NM_001077262.1;UBXN11,missense_variant,p.Glu381Lys,ENST00000374222,;UBXN11,missense_variant,p.Glu348Lys,ENST00000374217,NM_145345.2;UBXN11,missense_variant,p.Glu381Lys,ENST00000374221,NM_183008.2;UBXN11,missense_variant,p.Glu348Lys,ENST00000357089,;UBXN11,missense_variant,p.Glu138Lys,ENST00000374223,;CEP85,downstream_gene_variant,,ENST00000451429,NM_001281517.1;CEP85,downstream_gene_variant,,ENST00000252992,NM_001319944.1,NM_022778.3;CEP85,downstream_gene_variant,,ENST00000453146,;SH3BGRL3,downstream_gene_variant,,ENST00000270792,NM_031286.3;UBXN11,downstream_gene_variant,,ENST00000374215,;UBXN11,downstream_gene_variant,,ENST00000452980,;SH3BGRL3,downstream_gene_variant,,ENST00000319041,;UBXN11,downstream_gene_variant,,ENST00000442942,;CEP85,downstream_gene_variant,,ENST00000469609,;UBXN11,non_coding_transcript_exon_variant,,ENST00000472155,;UBXN11,non_coding_transcript_exon_variant,,ENST00000475591,;UBXN11,non_coding_transcript_exon_variant,,ENST00000496466,;UBXN11,non_coding_transcript_exon_variant,,ENST00000494942,;CEP85,downstream_gene_variant,,ENST00000476272,;	T	ENST00000374222	Transcript	missense_variant	1606/2043	1141/1563	381/520	E/K	Gag/Aag	COSM5417883	1		-1	UBXN11	HGNC	HGNC:30600	protein_coding	YES	CCDS41288.1	ENSP00000363339	Q5T124		UPI00004700E1		tolerated(0.15)		14/16		hmmpanther:PTHR23333,hmmpanther:PTHR23333:SF4,Gene3D:3.10.20.90,Superfamily_domains:SSF54236											1						MODERATE		SNV	5		1	1										PASS		.	.												T	3	4	6	26282874	26282874	C	T	1	0	0	0	0	1	0	0	0	17437	835	29	3		3	UBXN11	1	26282874	Missense_Mutation	SNP	C	C3L-00009_TP	9360140	26282874	222673548	6	1894											
CSF3R	0	.	GRCh38	chr1	36466703	36466703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacataggtctggaccagaGtggggaggccacaggtctct	9	7	15	10	0	2	1	0	0	2	1	3	3	2	3	2	6	0	1	2	6	1	1	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.2246C>A	p.Thr749Asn	p.T749N	ENST00000373103	17/17	264	244	20	319	319	0	strelka-varscan-mutect	CSF3R,missense_variant,p.Thr749Asn,ENST00000373103,NM_156039.3;CSF3R,missense_variant,p.Thr722Asn,ENST00000373106,NM_000760.3;CSF3R,missense_variant,p.Thr722Asn,ENST00000373104,NM_172313.2;CSF3R,missense_variant,p.Thr722Asn,ENST00000361632,;CSF3R,missense_variant,p.Thr722Asn,ENST00000331941,;CSF3R,missense_variant,p.Thr274Asn,ENST00000464465,;MRPS15,upstream_gene_variant,,ENST00000373116,NM_031280.3;CSF3R,non_coding_transcript_exon_variant,,ENST00000487540,;MRPS15,upstream_gene_variant,,ENST00000462067,;CSF3R,non_coding_transcript_exon_variant,,ENST00000480825,;CSF3R,non_coding_transcript_exon_variant,,ENST00000484762,;CSF3R,downstream_gene_variant,,ENST00000464365,;CSF3R,downstream_gene_variant,,ENST00000466138,;	T	ENST00000373103	Transcript	missense_variant	2794/3454	2246/2592	749/863	T/N	aCt/aAt		1		-1	CSF3R	HGNC	HGNC:2439	protein_coding	YES	CCDS414.1	ENSP00000362195	Q99062		UPI000002AA5A	NM_156039.3	deleterious(0.03)		17/17		hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF103																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	36466703	36466703	G	T	1	0	0	0	0	1	0	0	0	3738	1029	36	2		2	CSF3R	1	36466703	Missense_Mutation	SNP	G	C3L-00009_TP	10183829	36466703	212489719	7	1895											
YRDC	0	.	GRCh38	chr1	37807111	37807111	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgactcacaggcgtaaaaGggtttaggtccttgttgagc	9	12	12	8	1	1	2	1	2	0	0	2	2	2	2	1	3	1	3	1	3	3	6	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.494C>G	p.Pro165Arg	p.P165R	ENST00000373044	2/5	185	173	12	242	242	0	strelka-varscan-mutect	YRDC,missense_variant,p.Pro165Arg,ENST00000373044,NM_024640.3;C1orf122,5_prime_UTR_variant,,ENST00000373043,;MTF1,downstream_gene_variant,,ENST00000373036,NM_005955.2;C1orf122,upstream_gene_variant,,ENST00000468084,NM_001142726.1;C1orf122,upstream_gene_variant,,ENST00000373042,NM_198446.2;C1orf122,upstream_gene_variant,,ENST00000419397,;	C	ENST00000373044	Transcript	missense_variant	499/1826	494/840	165/279	P/R	cCt/cGt		1		-1	YRDC	HGNC	HGNC:28905	protein_coding	YES	CCDS30675.1	ENSP00000362135	Q86U90		UPI000019A401	NM_024640.3	deleterious(0)		2/5		Gene3D:3.90.870.10,Pfam_domain:PF01300,PROSITE_profiles:PS51163,hmmpanther:PTHR17490,Superfamily_domains:SSF55821,TIGRFAM_domain:TIGR00057																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	37807111	37807111	G	C	1	0	0	0	0	1	0	0	0	18056	1000	35	4		4	YRDC	1	37807111	Missense_Mutation	SNP	G	C3L-00009_TP	1340408	37807111	211149311	8	1896											
PTPRF	0	.	GRCh38	chr1	43598002	43598002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcgggcacacacagacGtgggccccggccccgagagc	7	2	17	15	4	0	2	0	0	0	2	0	3	0	2	4	4	2	1	4	4	0	0	rs761857102		C3L-00009_TP	C3L-00009_NB	G	G																c.2068G>T	p.Val690Leu	p.V690L	ENST00000359947	12/34	45	39	6	61	61	0	strelka-varscan-mutect	PTPRF,missense_variant,p.Val690Leu,ENST00000359947,NM_002840.3;PTPRF,missense_variant,p.Val690Leu,ENST00000438120,NM_130440.2;PTPRF,missense_variant,p.Val347Leu,ENST00000429895,;PTPRF,intron_variant,,ENST00000414879,;PTPRF,intron_variant,,ENST00000412568,;PTPRF,upstream_gene_variant,,ENST00000372407,;PTPRF,upstream_gene_variant,,ENST00000496447,;	T	ENST00000359947	Transcript	missense_variant	2408/7727	2068/5724	690/1907	V/L	Gtg/Ttg	rs761857102	1		1	PTPRF	HGNC	HGNC:9670	protein_coding	YES	CCDS489.2	ENSP00000353030	P10586		UPI0000470154	NM_002840.3	tolerated(0.07)		12/34		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs761857102	.												T	3	4	6	43598002	43598002	G	T	1	0	0	0	0	1	0	0	0	12955	1145	40	1		1	PTPRF	1	43598002	Missense_Mutation	SNP	G	C3L-00009_TP	5790891	43598002	205358420	9	1897											
PTPRF	0	.	GRCh38	chr1	43620519	43620519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtactttgttgttgacccGatggctgagtacaacatgcc	9	12	10	10	1	0	2	0	2	0	0	0	3	0	2	2	1	4	5	2	1	3	5	rs200215132		C3L-00009_TP	C3L-00009_NB	G	G																c.5304G>A	p.=	p.P1768P	ENST00000359947	31/34	133	125	8	194	194	0	strelka-varscan-mutect	PTPRF,synonymous_variant,p.=,ENST00000359947,NM_002840.3;PTPRF,synonymous_variant,p.=,ENST00000438120,NM_130440.2;PTPRF,synonymous_variant,p.=,ENST00000429895,;PTPRF,synonymous_variant,p.=,ENST00000414879,;PTPRF,synonymous_variant,p.=,ENST00000372407,;PTPRF,synonymous_variant,p.=,ENST00000412568,;PTPRF,non_coding_transcript_exon_variant,,ENST00000496447,;PTPRF,non_coding_transcript_exon_variant,,ENST00000477970,;	A	ENST00000359947	Transcript	synonymous_variant	5644/7727	5304/5724	1768/1907	P	ccG/ccA	rs200215132,COSM5666964,COSM5666965	1		1	PTPRF	HGNC	HGNC:9670	protein_coding	YES	CCDS489.2	ENSP00000353030	P10586		UPI0000470154	NM_002840.3			31/34		PROSITE_profiles:PS50055,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs200215132	.												A	2	1	6	43620519	43620519	G	A	1	0	0	0	0	0	0	0	1	12955	1045	37	1		1	PTPRF	1	43620519	Silent	SNP	G	C3L-00009_TP	22517	43620519	205335903	10	1898											
CC2D1B	0	.	GRCh38	chr1	52360443	52360443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaggccgcgctcgcagCgcctggctttggctgcttcg	2	10	13	16	5	1	0	1	0	0	0	3	0	1	0	3	3	2	5	3	3	0	3	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.584G>T	p.Arg195Leu	p.R195L	ENST00000371586	6/24	112	101	11	157	157	0	strelka-mutect	CC2D1B,missense_variant,p.Arg195Leu,ENST00000371586,NM_032449.2;CC2D1B,missense_variant,p.Arg195Leu,ENST00000284376,;CC2D1B,missense_variant,p.Arg36Leu,ENST00000450942,;CC2D1B,upstream_gene_variant,,ENST00000438021,;CC2D1B,non_coding_transcript_exon_variant,,ENST00000460261,;CC2D1B,upstream_gene_variant,,ENST00000494789,;CC2D1B,non_coding_transcript_exon_variant,,ENST00000491136,;CC2D1B,upstream_gene_variant,,ENST00000460370,;CC2D1B,upstream_gene_variant,,ENST00000485966,;	A	ENST00000371586	Transcript	missense_variant	723/5642	584/2577	195/858	R/L	cGc/cTc		1		-1	CC2D1B	HGNC	HGNC:29386	protein_coding	YES	CCDS30714.1	ENSP00000360642	Q5T0F9		UPI00001609B7	NM_032449.2	deleterious(0)		6/24		hmmpanther:PTHR13076,hmmpanther:PTHR13076:SF5,Low_complexity_(Seg):seg,SMART_domains:SM00685																	MODERATE	1	SNV	5			1										PASS		rs1181517830	.												A	3	1	6	52360443	52360443	C	A	1	0	0	0	0	1	0	0	0	2428	768	27	1		1	CC2D1B	1	52360443	Missense_Mutation	SNP	C	C3L-00009_TP	8739924	52360443	196595979	11	1899											
MROH7	0	.	GRCh38	chr1	54652961	54652961	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggctaacctggtcttccAtgaagacccaaagatgacac	13	7	10	11	0	1	4	0	2	1	2	2	4	2	4	3	3	1	1	3	3	3	2	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.35A>T	p.His12Leu	p.H12L	ENST00000421030	3/24	68	61	7	88	88	0	strelka-varscan-mutect	MROH7,missense_variant,p.His12Leu,ENST00000421030,NM_001039464.3;MROH7,missense_variant,p.His12Leu,ENST00000339553,;MROH7,missense_variant,p.His12Leu,ENST00000395690,;MROH7,intron_variant,,ENST00000409996,NM_001291332.1;MROH7,non_coding_transcript_exon_variant,,ENST00000472987,;MROH7,intron_variant,,ENST00000478097,;MROH7-TTC4,missense_variant,p.His12Leu,ENST00000425300,;MROH7-TTC4,missense_variant,p.His12Leu,ENST00000414150,;MROH7-TTC4,missense_variant,p.His12Leu,ENST00000606515,;MROH7,missense_variant,p.His12Leu,ENST00000413188,;MROH7,missense_variant,p.His12Leu,ENST00000422659,;MROH7,missense_variant,p.His12Leu,ENST00000440047,;MROH7,missense_variant,p.His12Leu,ENST00000438846,;MROH7,upstream_gene_variant,,ENST00000440217,;	T	ENST00000421030	Transcript	missense_variant	320/4329	35/3972	12/1323	H/L	cAt/cTt		1		1	MROH7	HGNC	HGNC:24802	protein_coding	YES	CCDS41342.2	ENSP00000396622	Q68CQ1		UPI000198C4E2	NM_001039464.3	tolerated_low_confidence(0.77)		3/24																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	6	54652961	54652961	A	T	1	0	0	0	0	1	0	0	0	9747	217	8	4		4	MROH7	1	54652961	Missense_Mutation	SNP	A	C3L-00009_TP	2292518	54652961	194303461	12	1900											
CTH	0	.	GRCh38	chr1	70432222	70432222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctaatccttgggtagaaaaGgttatttatcctggtatgtt	10	17	9	5	0	1	1	0	0	1	1	3	1	3	1	2	3	0	4	2	3	7	8	rs368097625		C3L-00009_TP	C3L-00009_NB	G	G																c.864G>T	p.Lys288Asn	p.K288N	ENST00000370938	8/12	237	220	17	319	319	0	strelka-mutect	CTH,missense_variant,p.Lys256Asn,ENST00000411986,NM_001190463.1;CTH,missense_variant,p.Lys288Asn,ENST00000370938,NM_001902.5;CTH,missense_variant,p.Lys244Asn,ENST00000346806,NM_153742.4;Metazoa_SRP,downstream_gene_variant,,ENST00000612213,;CTH,downstream_gene_variant,,ENST00000464926,;CTH,upstream_gene_variant,,ENST00000482383,;	T	ENST00000370938	Transcript	missense_variant	1008/1805	864/1218	288/405	K/N	aaG/aaT	rs368097625	1		1	CTH	HGNC	HGNC:2501	protein_coding	YES	CCDS650.1	ENSP00000359976	P32929		UPI00001275DE	NM_001902.5	deleterious(0.03)		8/12		Gene3D:3.90.1150.10,Pfam_domain:PF01053,PIRSF_domain:PIRSF001434,hmmpanther:PTHR11808,hmmpanther:PTHR11808:SF15,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		rs368097625	.												T	3	4	6	70432222	70432222	G	T	1	0	0	0	0	1	0	0	0	3817	991	35	2		2	CTH	1	70432222	Missense_Mutation	SNP	G	C3L-00009_TP	15779261	70432222	178524200	13	1901											
NEGR1	0	.	GRCh38	chr1	71611044	71611044	+	Missense_Mutation	SNP	C	C	A																															acttcttctctcctttgtacCattcaaaggctggaggcggc																										C3L-00009_TP	C3L-00009_NB	C	C																c.770G>T	p.Trp257Leu	p.W257L	ENST00000357731	5/7	198	154	44	223	223	0	strelka-varscan-mutect	NEGR1,missense_variant,p.Trp257Leu,ENST00000357731,NM_173808.2;NEGR1,missense_variant,p.Trp129Leu,ENST00000306821,;	A	ENST00000357731	Transcript	missense_variant	1010/12811	770/1065	257/354	W/L	tGg/tTg	COSM5288553	1		-1	NEGR1	HGNC	HGNC:17302	protein_coding	YES	CCDS661.1	ENSP00000350364	Q7Z3B1		UPI00000477EE	NM_173808.2	deleterious(0)		5/7		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF132,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	6	71611044	71611044	C	A	1	0	0	0	0	1	0	0	0	10345	595	21	2		2	NEGR1	1	71611044	Missense_Mutation	SNP	C	C3L-00009_TP	1178822	71611044	177345378	14	1902	45	2									
NEGR1	0	.	GRCh38	chr1	71611045	71611045	+	Missense_Mutation	SNP	A	A	T																															cttcttctctcctttgtaccAttcaaaggctggaggcggca																								novel		C3L-00009_TP	C3L-00009_NB	A	A																c.769T>A	p.Trp257Arg	p.W257R	ENST00000357731	5/7	197	153	44	226	226	0	strelka-varscan-mutect	NEGR1,missense_variant,p.Trp257Arg,ENST00000357731,NM_173808.2;NEGR1,missense_variant,p.Trp129Arg,ENST00000306821,;	T	ENST00000357731	Transcript	missense_variant	1009/12811	769/1065	257/354	W/R	Tgg/Agg		1		-1	NEGR1	HGNC	HGNC:17302	protein_coding	YES	CCDS661.1	ENSP00000350364	Q7Z3B1		UPI00000477EE	NM_173808.2	deleterious(0)		5/7		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF132,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	71611045	71611045	A	T	1	0	0	0	0	1	0	0	0	10345	217	8	4		4	NEGR1	1	71611045	Missense_Mutation	SNP	A	C3L-00009_TP	1	71611045	177345377	15	1903	45	2									
ERICH3	0	.	GRCh38	chr1	74572812	74572812	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttcagaaccgtcctcTctctttgatgctgtgtcctc	4	15	7	15	1	4	2	1	1	3	1	8	2	6	2	4	0	2	1	4	0	1	2	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.2898A>G	p.=	p.R966R	ENST00000326665	14/15	311	278	33	530	530	0	strelka-varscan-mutect	ERICH3,synonymous_variant,p.=,ENST00000326665,NM_001002912.4;ERICH3-AS1,upstream_gene_variant,,ENST00000612390,;ERICH3,non_coding_transcript_exon_variant,,ENST00000433746,;ERICH3,downstream_gene_variant,,ENST00000614534,;	C	ENST00000326665	Transcript	synonymous_variant	3117/7159	2898/4593	966/1530	R	agA/agG		1		-1	ERICH3	HGNC	HGNC:25346	protein_coding	YES	CCDS30755.1	ENSP00000322609	Q5RHP9		UPI0000237200	NM_001002912.4			14/15		hmmpanther:PTHR23034																	LOW		SNV	5			1										PASS		.	.												C	2	2	6	74572812	74572812	T	C	1	0	0	0	0	0	0	0	1	5083	1548	54	5		5	ERICH3	1	74572812	Silent	SNP	T	C3L-00009_TP	2961767	74572812	174383610	16	1904											
AP4B1	0	.	GRCh38	chr1	113901294	113901294	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgcctccttcctgtttcaGaatttcctctagagacctca	9	13	5	14	1	3	2	2	0	1	2	6	3	6	2	5	0	1	1	5	0	3	4	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.559C>T	p.=	p.L187L	ENST00000369569	4/10	333	260	73	375	375	0	strelka-varscan-mutect	AP4B1,synonymous_variant,p.=,ENST00000369569,NM_001253852.1;AP4B1,synonymous_variant,p.=,ENST00000256658,NM_001253853.1,NM_006594.3;AP4B1,synonymous_variant,p.=,ENST00000369564,;AP4B1,synonymous_variant,p.=,ENST00000369571,;AP4B1,intron_variant,,ENST00000369567,NM_001308312.1;AP4B1,intron_variant,,ENST00000432415,;DCLRE1B,upstream_gene_variant,,ENST00000369563,NM_022836.3;AP4B1-AS1,downstream_gene_variant,,ENST00000419536,;AP4B1,non_coding_transcript_exon_variant,,ENST00000484201,;AP4B1,non_coding_transcript_exon_variant,,ENST00000489092,;AP4B1,non_coding_transcript_exon_variant,,ENST00000472122,;AP4B1,intron_variant,,ENST00000489499,;DCLRE1B,upstream_gene_variant,,ENST00000466480,;AP4B1,upstream_gene_variant,,ENST00000462591,;AP4B1,upstream_gene_variant,,ENST00000479285,;AP4B1,upstream_gene_variant,,ENST00000479801,;AP4B1,upstream_gene_variant,,ENST00000460653,;	A	ENST00000369569	Transcript	synonymous_variant	840/2818	559/2220	187/739	L	Ctg/Ttg		1		-1	AP4B1	HGNC	HGNC:572	protein_coding	YES	CCDS865.1	ENSP00000358582	Q9Y6B7	A0A024R0D2	UPI0000072F63	NM_001253852.1			4/10		Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF002291,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF4,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		rs1192505486	.												A	2	1	6	113901294	113901294	G	A	1	0	0	0	0	0	0	0	1	867	933	33	3		3	AP4B1	1	113901294	Silent	SNP	G	C3L-00009_TP	39328482	113901294	135055128	17	1905											
FAM72C	0	.	GRCh38	chr1	143964980	143964980	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaactacaatgttcccaCtagaaaagaaagtaaatgtt	19	10	6	6	0	0	2	0	0	0	2	1	3	1	2	1	0	2	3	1	0	10	6	rs782189336		C3L-00009_TP	C3L-00009_NB	C	C																c.231-1G>T		p.X77_splice	ENST00000584486		170	149	21	230	230	0	varscan-mutect	FAM72C,splice_acceptor_variant,,ENST00000584486,NM_001287385.1;FAM72C,intron_variant,,ENST00000369175,;	A	ENST00000584486	Transcript	splice_acceptor_variant	-/2297	231/450	77/149			rs782189336	1		-1	FAM72C	HGNC	HGNC:30602	protein_coding	YES	CCDS72850.1	ENSP00000463032	H0Y354		UPI0002742DFA	NM_001287385.1				2/3																		HIGH	1	SNV	1			1										PASS		rs782189336	.												A	5	1	6	143964980	143964980	C	A	1	0	0	0	0	0	0	1	0	5481	579	20	2		2	FAM72C	1	143964980	Splice_Site	SNP	C	C3L-00009_TP	30063686	143964980	104991442	18	1906											
PI4KB	0	.	GRCh38	chr1	151307711	151307711	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctgagatcagcctctgtgTtttctgctctttggtgggga	4	16	12	9	0	5	1	1	1	4	1	5	3	5	2	1	3	2	2	1	3	0	3	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.1081A>T	p.Thr361Ser	p.T361S	ENST00000368875	5/13	496	463	33	604	604	0	strelka-varscan-mutect	PI4KB,missense_variant,p.Thr361Ser,ENST00000368875,NM_002651.2;PI4KB,missense_variant,p.Thr334Ser,ENST00000368874,NM_001198774.1;PI4KB,missense_variant,p.Thr349Ser,ENST00000368873,;PI4KB,missense_variant,p.Thr334Ser,ENST00000368872,NM_001198773.1;PI4KB,missense_variant,p.Thr17Ser,ENST00000529142,NM_001198775.1;PI4KB,missense_variant,p.Thr17Ser,ENST00000430800,;PI4KB,missense_variant,p.Thr17Ser,ENST00000489223,;PI4KB,upstream_gene_variant,,ENST00000460323,;	A	ENST00000368875	Transcript	missense_variant	1662/3983	1081/2487	361/828	T/S	Aca/Tca		1		-1	PI4KB	HGNC	HGNC:8984	protein_coding	YES	CCDS993.1	ENSP00000357869		A0A0B4J1S8	UPI000007161F	NM_002651.2	tolerated(0.07)		5/13		hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF22,Gene3D:3.30.1010.10,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	6	151307711	151307711	T	A	1	0	0	0	0	1	0	0	0	11963	1725	60	4		4	PI4KB	1	151307711	Missense_Mutation	SNP	T	C3L-00009_TP	7342731	151307711	97648711	19	1907											
ARHGEF11	0	.	GRCh38	chr1	156947809	156947809	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaatctcccgctgggttagCccagccaccacatccttgcc	7	9	7	18	1	2	0	1	0	1	0	4	0	3	0	6	1	3	2	6	1	2	2	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.2301G>C	p.=	p.G767G	ENST00000368194	25/41	164	148	16	184	184	0	strelka-varscan-mutect	ARHGEF11,synonymous_variant,p.=,ENST00000368194,NM_198236.2;ARHGEF11,synonymous_variant,p.=,ENST00000361409,NM_014784.3;ARHGEF11,upstream_gene_variant,,ENST00000487682,;ARHGEF11,upstream_gene_variant,,ENST00000461678,;	G	ENST00000368194	Transcript	synonymous_variant	3341/6889	2301/4689	767/1562	G	ggG/ggC		1		-1	ARHGEF11	HGNC	HGNC:14580	protein_coding	YES	CCDS1163.1	ENSP00000357177	O15085		UPI00001D62A7	NM_198236.2			25/41		hmmpanther:PTHR12673:SF111,hmmpanther:PTHR12673,Gene3D:1.20.900.10,Superfamily_domains:SSF48065																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	6	156947809	156947809	C	G	1	0	0	0	0	0	0	0	1	1026	726	26	4		4	ARHGEF11	1	156947809	Silent	SNP	C	C3L-00009_TP	5640098	156947809	92008613	20	1908											
OR10J1	0	.	GRCh38	chr1	159440069	159440069	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtatgagccagcccatatCattggcagggtgtgccacac	10	8	12	11	0	1	1	1	1	0	0	1	1	1	1	3	3	3	2	3	3	2	3	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.311C>G	p.Ser104Ter	p.S104*	ENST00000423932	1/1	240	211	29	333	333	0	strelka-varscan-mutect	OR10J1,stop_gained,p.Ser104Ter,ENST00000423932,NM_012351.2;RP11-550P17.5,intron_variant,,ENST00000431862,;	G	ENST00000423932	Transcript	stop_gained	348/1090	311/963	104/320	S/*	tCa/tGa		1		1	OR10J1	HGNC	HGNC:8175	protein_coding	YES	CCDS1185.1	ENSP00000399078	P30954		UPI000013E7DA	NM_012351.2			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF417,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	HIGH		SNV				1										PASS		.	.												G	4	3	6	159440069	159440069	C	G	1	0	0	0	0	0	1	0	0	10987	838	29	4		4	OR10J1	1	159440069	Nonsense_Mutation	SNP	C	C3L-00009_TP	2492260	159440069	89516353	21	1909											
SLAMF9	0	.	GRCh38	chr1	159953615	159953615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgaaggaccgcaaccacttCctcggatccacaccatctcc	10	7	6	18	2	1	1	0	1	1	0	5	3	3	3	6	2	1	1	6	2	2	1			C3L-00009_TP	C3L-00009_NB	C	C																c.85G>A	p.Glu29Lys	p.E29K	ENST00000368093	2/4	101	93	8	151	151	0	strelka-varscan-mutect	SLAMF9,missense_variant,p.Glu29Lys,ENST00000368093,NM_033438.3;SLAMF9,missense_variant,p.Glu29Lys,ENST00000368092,NM_001146172.1;SLAMF9,non_coding_transcript_exon_variant,,ENST00000489098,;SLAMF9,upstream_gene_variant,,ENST00000466773,;	T	ENST00000368093	Transcript	missense_variant	202/1156	85/870	29/289	E/K	Gaa/Aaa	COSM3476710	1		-1	SLAMF9	HGNC	HGNC:18430	protein_coding	YES	CCDS1191.1	ENSP00000357072	Q96A28		UPI000013E1B2	NM_033438.3	deleterious(0.02)		2/4		Gene3D:2.60.40.10,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF18,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	6	159953615	159953615	C	T	1	0	0	0	0	1	0	0	0	14636	864	30	3		3	SLAMF9	1	159953615	Missense_Mutation	SNP	C	C3L-00009_TP	513546	159953615	89002807	22	1910											
ARHGAP30	0	.	GRCh38	chr1	161051605	161051605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgtgccacccagtgcttCtgcctcaggctcctgttcac	4	13	9	15	0	3	0	2	0	1	0	4	0	4	0	4	1	3	4	4	1	0	3	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.1129G>A	p.Glu377Lys	p.E377K	ENST00000368013	10/12	214	202	12	288	288	0	strelka-varscan-mutect	ARHGAP30,missense_variant,p.Glu377Lys,ENST00000368013,NM_001287600.1,NM_001025598.1;ARHGAP30,missense_variant,p.Glu200Lys,ENST00000368015,NM_001287602.1;ARHGAP30,missense_variant,p.Glu377Lys,ENST00000368016,NM_181720.2;ARHGAP30,3_prime_UTR_variant,,ENST00000490279,;ARHGAP30,non_coding_transcript_exon_variant,,ENST00000461003,;ARHGAP30,downstream_gene_variant,,ENST00000368018,;ARHGAP30,downstream_gene_variant,,ENST00000471492,;	T	ENST00000368013	Transcript	missense_variant	1450/4394	1129/3306	377/1101	E/K	Gaa/Aaa		1		-1	ARHGAP30	HGNC	HGNC:27414	protein_coding	YES	CCDS30918.1	ENSP00000356992	Q7Z6I6		UPI0000160677	NM_001287600.1,NM_001025598.1	deleterious(0)		10/12		Low_complexity_(Seg):seg,hmmpanther:PTHR15729:SF12,hmmpanther:PTHR15729																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	6	161051605	161051605	C	T	1	0	0	0	0	1	0	0	0	1004	922	32	3		3	ARHGAP30	1	161051605	Missense_Mutation	SNP	C	C3L-00009_TP	1097990	161051605	87904817	23	1911											
OLFML2B	0	.	GRCh38	chr1	162020045	162020045	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaggtgatggtttccacGgtatagaagtcttccttcct	7	14	10	10	1	1	3	0	2	1	1	4	3	4	3	4	3	0	2	4	3	3	5	rs778879566		C3L-00009_TP	C3L-00009_NB	G	G																c.312C>A	p.=	p.T104T	ENST00000367940	2/8	525	477	48	605	604	1	strelka-varscan-mutect	OLFML2B,synonymous_variant,p.=,ENST00000294794,NM_015441.2;OLFML2B,synonymous_variant,p.=,ENST00000367940,NM_001297713.1;	T	ENST00000367940	Transcript	synonymous_variant	522/2685	312/2256	104/751	T	acC/acA	rs778879566	1		-1	OLFML2B	HGNC	HGNC:24558	protein_coding	YES	CCDS72966.1	ENSP00000356917		F2Z3N3	UPI0001AE79B2	NM_001297713.1			2/8		hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37																	LOW	1	SNV	2			1										PASS		rs778879566	.												T	2	4	6	162020045	162020045	G	T	1	0	0	0	0	0	0	0	1	10933	1103	39	1		1	OLFML2B	1	162020045	Silent	SNP	G	C3L-00009_TP	968440	162020045	86936377	24	1912											
RXRG	0	.	GRCh38	chr1	165401287	165401287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatctgcagcggggtctcCaacatctccatgaggaaggt	9	9	13	10	1	3	2	0	2	3	0	5	3	3	3	2	4	3	1	2	4	2	0	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.1368G>T	p.Leu456Phe	p.L456F	ENST00000359842	10/10	183	144	39	232	231	1	strelka-varscan-mutect	RXRG,missense_variant,p.Leu333Phe,ENST00000619224,NM_001256570.1,NM_001256571.1;RXRG,missense_variant,p.Leu456Phe,ENST00000359842,NM_006917.4;	A	ENST00000359842	Transcript	missense_variant	1671/2041	1368/1392	456/463	L/F	ttG/ttT		1		-1	RXRG	HGNC	HGNC:10479	protein_coding	YES	CCDS1248.1	ENSP00000352900	P48443	F1D8Q7	UPI000004989F	NM_006917.4	deleterious(0.01)		10/10		hmmpanther:PTHR24083:SF95,hmmpanther:PTHR24083,Gene3D:1.10.565.10,Superfamily_domains:SSF48508																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	165401287	165401287	C	A	1	0	0	0	0	1	0	0	0	14026	593	21	2		2	RXRG	1	165401287	Missense_Mutation	SNP	C	C3L-00009_TP	3381242	165401287	83555135	25	1913											
LRRC52	0	.	GRCh38	chr1	165563789	165563789	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggatttttcaaacccagAcgagctcggtccaggagttc	9	9	12	11	3	1	1	1	0	0	1	4	4	2	3	2	4	2	2	2	4	1	3	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.907A>T	p.Thr303Ser	p.T303S	ENST00000294818	2/2	200	185	15	283	283	0	strelka-varscan-mutect	LRRC52,missense_variant,p.Thr303Ser,ENST00000294818,NM_001005214.3;RP11-280O1.2,intron_variant,,ENST00000438275,;RP11-280O1.2,intron_variant,,ENST00000421273,;RP11-280O1.2,intron_variant,,ENST00000416424,;	T	ENST00000294818	Transcript	missense_variant	1197/1369	907/942	303/313	T/S	Acg/Tcg		1		1	LRRC52	HGNC	HGNC:32156	protein_coding	YES	CCDS30930.1	ENSP00000294818	Q8N7C0		UPI000013E1BE	NM_001005214.3	tolerated_low_confidence(0.88)		2/2																			MODERATE	1	SNV	1			1										PASS		rs1238352948	.												T	3	4	6	165563789	165563789	A	T	1	0	0	0	0	1	0	0	0	8904	275	10	4		4	LRRC52	1	165563789	Missense_Mutation	SNP	A	C3L-00009_TP	162502	165563789	83392633	26	1914											
DUSP27	0	.	GRCh38	chr1	167119267	167119267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagtgtggctgtgaacaaGgggaggctgaagaggctggg	10	6	21	4	0	0	3	0	2	0	1	0	5	0	5	0	7	1	3	0	7	3	0	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.456G>T	p.Lys152Asn	p.K152N	ENST00000361200	5/6	312	264	48	465	465	0	strelka-varscan-mutect	DUSP27,missense_variant,p.Lys152Asn,ENST00000361200,;DUSP27,missense_variant,p.Lys152Asn,ENST00000443333,NM_001080426.1;DUSP27,missense_variant,p.Lys152Asn,ENST00000271385,;GPA33,intron_variant,,ENST00000632571,;	T	ENST00000361200	Transcript	missense_variant	622/4164	456/3477	152/1158	K/N	aaG/aaT		1		1	DUSP27	HGNC	HGNC:25034	protein_coding	YES	CCDS30932.1	ENSP00000354483	Q5VZP5		UPI000040DFF5		deleterious(0)		5/6		PROSITE_profiles:PS50054,hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,Superfamily_domains:SSF52799																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	6	167119267	167119267	G	T	1	0	0	0	0	1	0	0	0	4646	991	35	2		2	DUSP27	1	167119267	Missense_Mutation	SNP	G	C3L-00009_TP	1555478	167119267	81837155	27	1915											
DUSP27	0	.	GRCh38	chr1	167125843	167125843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagcagtgctggtggtcGcctacctgatgatcttccac	6	11	12	12	1	2	2	1	2	1	0	4	2	3	2	3	3	3	2	3	3	1	2	rs748897144		C3L-00009_TP	C3L-00009_NB	G	G																c.712G>C	p.Ala238Pro	p.A238P	ENST00000361200	6/6	137	113	24	141	141	0	strelka-varscan-mutect	DUSP27,missense_variant,p.Ala238Pro,ENST00000361200,;DUSP27,missense_variant,p.Ala238Pro,ENST00000443333,NM_001080426.1;DUSP27,missense_variant,p.Ala238Pro,ENST00000271385,;GPA33,intron_variant,,ENST00000632571,;DUSP27,upstream_gene_variant,,ENST00000485151,;	C	ENST00000361200	Transcript	missense_variant	878/4164	712/3477	238/1158	A/P	Gcc/Ccc	rs748897144	1		1	DUSP27	HGNC	HGNC:25034	protein_coding	YES	CCDS30932.1	ENSP00000354483	Q5VZP5		UPI000040DFF5		deleterious(0)		6/6		PROSITE_profiles:PS50056,PROSITE_profiles:PS50054,hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,Superfamily_domains:SSF52799																	MODERATE	1	SNV	5			1										PASS		rs748897144	.												C	3	2	6	167125843	167125843	G	C	1	0	0	0	0	1	0	0	0	4646	1087	38	4		4	DUSP27	1	167125843	Missense_Mutation	SNP	G	C3L-00009_TP	6576	167125843	81830579	28	1916											
SUCO	0	.	GRCh38	chr1	172600104	172600104	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagttgctacaggcacAgctgaccaacatgacacagc	13	6	8	14	0	0	2	0	2	0	0	1	2	1	2	2	1	5	4	2	1	2	2	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.3407A>G	p.Gln1136Arg	p.Q1136R	ENST00000367723	19/23	213	168	45	277	277	0	strelka-varscan-mutect	SUCO,missense_variant,p.Gln1136Arg,ENST00000367723,NM_016227.3;SUCO,missense_variant,p.Gln1136Arg,ENST00000608151,;SUCO,missense_variant,p.Gln985Arg,ENST00000263688,NM_014283.4;SUCO,missense_variant,p.Gln422Arg,ENST00000616058,NM_001282751.1;SUCO,missense_variant,p.Gln614Arg,ENST00000610051,NM_001282750.1;SUCO,upstream_gene_variant,,ENST00000486569,;	G	ENST00000367723	Transcript	missense_variant	3531/5916	3407/4218	1136/1405	Q/R	cAg/cGg		1		1	SUCO	HGNC	HGNC:1240	protein_coding	YES	CCDS65726.1	ENSP00000356696	Q9UBS9	A0A024R929	UPI0000EE3C11	NM_016227.3	deleterious(0.05)		19/23		hmmpanther:PTHR12953:SF0,hmmpanther:PTHR12953																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	6	172600104	172600104	A	G	1	0	0	0	0	1	0	0	0	15751	188	7	5		5	SUCO	1	172600104	Missense_Mutation	SNP	A	C3L-00009_TP	5474261	172600104	76356318	29	1917											
SERPINC1	0	.	GRCh38	chr1	173909726	173909726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggggtgagttccttctctaCcttggccaggctcttctcag	4	14	11	12	0	3	1	1	1	3	0	6	1	4	1	3	4	1	2	3	4	1	5	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.979G>C	p.Val327Leu	p.V327L	ENST00000367698	5/7	266	227	39	329	329	0	strelka-varscan-mutect	SERPINC1,missense_variant,p.Val327Leu,ENST00000367698,NM_000488.3;SERPINC1,intron_variant,,ENST00000617423,;SERPINC1,downstream_gene_variant,,ENST00000494024,;SERPINC1,downstream_gene_variant,,ENST00000487183,;	G	ENST00000367698	Transcript	missense_variant	1098/1594	979/1395	327/464	V/L	Gta/Cta		1		-1	SERPINC1	HGNC	HGNC:775	protein_coding	YES	CCDS1313.1	ENSP00000356671	P01008	A0A024R944	UPI000002C0C1	NM_000488.3	tolerated(0.49)		5/7		hmmpanther:PTHR11461:SF53,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	6	173909726	173909726	C	G	1	0	0	0	0	1	0	0	0	14385	507	18	4		4	SERPINC1	1	173909726	Missense_Mutation	SNP	C	C3L-00009_TP	1309622	173909726	75046696	30	1918											
CFHR4	0	.	GRCh38	chr1	196918336	196918336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaaattgggatataatgCgaatacatcagttctatcat	14	14	8	5	1	3	0	2	0	1	0	3	2	3	1	0	1	2	2	0	1	7	7	rs576733857		C3L-00009_TP	C3L-00009_NB	C	C																c.1664C>A	p.Ala555Glu	p.A555E	ENST00000367416	10/10	306	262	44	429	429	0	strelka-varscan-mutect	CFHR4,missense_variant,p.Ala555Glu,ENST00000367416,NM_001201551.1,NM_001201550.2;CFHR4,missense_variant,p.Ala179Glu,ENST00000608469,;CFHR4,missense_variant,p.Ala309Glu,ENST00000251424,NM_006684.4;CFHR4,missense_variant,p.Ala309Glu,ENST00000367418,;RP4-608O15.3,intron_variant,,ENST00000367421,;	A	ENST00000367416	Transcript	missense_variant	1801/2178	1664/1734	555/577	A/E	gCg/gAg	rs576733857,COSM1200895,COSM1200896	1		1	CFHR4	HGNC	HGNC:16979	protein_coding	YES	CCDS55671.1	ENSP00000356386	Q92496		UPI0001F6C576	NM_001201551.1,NM_001201550.2	tolerated(1)		10/10		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF366,Superfamily_domains:SSF57535											0,1,1						MODERATE		SNV	2		0,1,1	1										PASS		rs576733857	.												A	3	1	6	196918336	196918336	C	A	1	0	0	0	0	1	0	0	0	3045	768	27	1		1	CFHR4	1	196918336	Missense_Mutation	SNP	C	C3L-00009_TP	23008610	196918336	52038086	31	1919											
NR5A2	0	.	GRCh38	chr1	200039729	200039729	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgtcatgctgcccaaagtgGagacggaagccctgggactg	9	8	14	10	1	1	1	1	0	0	1	1	4	1	3	2	3	3	1	2	3	2	1	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.136G>C	p.Glu46Gln	p.E46Q	ENST00000367362	2/8	354	328	26	392	392	0	strelka-varscan-mutect	NR5A2,missense_variant,p.Glu46Gln,ENST00000367362,NM_205860.2;NR5A2,missense_variant,p.Glu59Gln,ENST00000447034,;NR5A2,intron_variant,,ENST00000236914,NM_003822.4;NR5A2,upstream_gene_variant,,ENST00000544748,NM_001276464.1;NR5A2,upstream_gene_variant,,ENST00000367357,;NR5A2,intron_variant,,ENST00000474307,;	C	ENST00000367362	Transcript	missense_variant	382/5086	136/1626	46/541	E/Q	Gag/Cag		1		1	NR5A2	HGNC	HGNC:7984	protein_coding	YES	CCDS1401.1	ENSP00000356331	O00482		UPI0000130482	NM_205860.2	tolerated_low_confidence(0.15)		2/8		hmmpanther:PTHR24086,hmmpanther:PTHR24086:SF18,PIRSF_domain:PIRSF002530																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	200039729	200039729	G	C	1	0	0	0	0	1	0	0	0	10692	1175	41	4		4	NR5A2	1	200039729	Missense_Mutation	SNP	G	C3L-00009_TP	3121393	200039729	48916693	32	1920											
TNNI1	0	.	GRCh38	chr1	201411440	201411440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggagcccagcagggcccGgagcatggcgtcagccgaga	8	4	16	13	3	1	1	1	0	0	1	1	4	1	3	3	4	4	2	3	4	0	1	rs757767988		C3L-00009_TP	C3L-00009_NB	G	G																c.373C>T	p.Arg125Trp	p.R125W	ENST00000361379	7/9	362	312	50	410	410	0	strelka-varscan-mutect	TNNI1,missense_variant,p.Arg125Trp,ENST00000622580,;TNNI1,missense_variant,p.Arg125Trp,ENST00000361379,NM_003281.3;TNNI1,missense_variant,p.Arg125Trp,ENST00000336092,;TNNI1,missense_variant,p.Arg125Trp,ENST00000367312,;TNNI1,missense_variant,p.Arg125Trp,ENST00000556362,;TNNI1,missense_variant,p.Arg104Trp,ENST00000555340,;TNNI1,intron_variant,,ENST00000555948,;	A	ENST00000361379	Transcript	missense_variant	466/5413	373/564	125/187	R/W	Cgg/Tgg	rs757767988,COSM1295685	1		-1	TNNI1	HGNC	HGNC:11945	protein_coding	YES	CCDS1411.1	ENSP00000354488	P19237		UPI0000000CCA	NM_003281.3	deleterious(0)		7/9		hmmpanther:PTHR13738:SF9,hmmpanther:PTHR13738,Pfam_domain:PF00992,Gene3D:1.20.5.350,Superfamily_domains:SSF90250											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs757767988	.												A	3	1	6	201411440	201411440	G	A	1	0	0	0	0	1	0	0	0	16799	1115	39	1		1	TNNI1	1	201411440	Missense_Mutation	SNP	G	C3L-00009_TP	1371711	201411440	47544982	33	1921											
NAV1	0	.	GRCh38	chr1	201790765	201790765	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacgtctcagctttctgccaAtgtgagtgccatgaagtacg	9	11	11	10	2	2	2	1	2	2	0	3	3	2	2	2	0	4	2	2	0	3	2	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.3320A>G	p.Asn1107Ser	p.N1107S	ENST00000367296	13/30	223	210	13	328	328	0	strelka-varscan-mutect	NAV1,missense_variant,p.Asn1107Ser,ENST00000367296,NM_020443.4;NAV1,missense_variant,p.Asn716Ser,ENST00000367295,NM_001167738.1;NAV1,missense_variant,p.Asn1063Ser,ENST00000367302,;NAV1,missense_variant,p.Asn657Ser,ENST00000430015,;NAV1,missense_variant,p.Asn90Ser,ENST00000438083,;IPO9-AS1,intron_variant,,ENST00000413035,;NAV1,splice_region_variant,,ENST00000469130,;NAV1,splice_region_variant,,ENST00000490213,;NAV1,3_prime_UTR_variant,,ENST00000477118,;	G	ENST00000367296	Transcript	missense_variant,splice_region_variant	3740/13091	3320/5634	1107/1877	N/S	aAt/aGt		1		1	NAV1	HGNC	HGNC:15989	protein_coding	YES	CCDS1414.2	ENSP00000356265	Q8NEY1		UPI00004562D4	NM_020443.4	deleterious(0)		13/30		hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF3																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	6	201790765	201790765	A	G	1	0	0	0	0	1	0	0	0	10192	115	4	5		5	NAV1	1	201790765	Missense_Mutation	SNP	A	C3L-00009_TP	379325	201790765	47165657	34	1922											
KCNH1	0	.	GRCh38	chr1	210683964	210683964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccttctccacatctaggtCatccaggtcccggccccctc	5	9	7	20	1	3	0	1	0	2	0	7	0	5	0	6	3	0	0	6	3	1	2	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.2287G>A	p.Asp763Asn	p.D763N	ENST00000271751	11/11	38	33	5	73	73	0	strelka-varscan-mutect	KCNH1,missense_variant,p.Asp763Asn,ENST00000271751,NM_172362.2;KCNH1,missense_variant,p.Asp736Asn,ENST00000367007,NM_002238.3;RP11-75I2.3,downstream_gene_variant,,ENST00000625140,;	T	ENST00000271751	Transcript	missense_variant	2315/7964	2287/2970	763/989	D/N	Gac/Aac		1		-1	KCNH1	HGNC	HGNC:6250	protein_coding	YES	CCDS1496.1	ENSP00000271751	O95259		UPI000003230D	NM_172362.2	tolerated_low_confidence(0.24)		11/11		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF533																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	6	210683964	210683964	C	T	1	0	0	0	0	1	0	0	0	7947	826	29	3		3	KCNH1	1	210683964	Missense_Mutation	SNP	C	C3L-00009_TP	8893199	210683964	38272458	35	1923											
USH2A	0	.	GRCh38	chr1	215680324	215680324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagccacaacaccaatgCgatatgttgtgaatggttct	11	12	9	9	1	1	1	0	1	1	0	1	2	1	1	2	1	4	3	2	1	4	4	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.12119G>T	p.Arg4040Leu	p.R4040L	ENST00000307340	62/72	210	167	43	293	293	0	strelka-varscan-mutect	USH2A,missense_variant,p.Arg4040Leu,ENST00000307340,NM_206933.2;	A	ENST00000307340	Transcript	missense_variant	12506/18883	12119/15609	4040/5202	R/L	cGc/cTc		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(0.09)		62/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00060,Superfamily_domains:SSF49265,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs1238450377	.												A	3	1	6	215680324	215680324	C	A	1	0	0	0	0	1	0	0	0	17570	768	27	1		1	USH2A	1	215680324	Missense_Mutation	SNP	C	C3L-00009_TP	4996360	215680324	33276098	36	1924											
USH2A	0	.	GRCh38	chr1	215867107	215867107	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctaacgttgtcacagtcacTtctcggctcggtgtaaaacc	9	11	9	12	3	3	0	2	0	1	0	5	0	3	0	1	2	2	4	1	2	3	4	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.8745A>G	p.=	p.E2915E	ENST00000307340	44/72	360	307	53	488	488	0	strelka-varscan-mutect	USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;	C	ENST00000307340	Transcript	synonymous_variant	9132/18883	8745/15609	2915/5202	E	gaA/gaG		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			44/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	6	215867107	215867107	T	C	1	0	0	0	0	0	0	0	1	17570	1606	56	5		5	USH2A	1	215867107	Silent	SNP	T	C3L-00009_TP	186783	215867107	33089315	37	1925											
USH2A	0	.	GRCh38	chr1	216046515	216046515	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgagttataataccatttgCctttttgggtgggttccagg	7	16	11	7	0	0	1	0	1	0	0	1	1	1	1	3	3	2	2	3	3	3	7	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.6241G>C	p.Ala2081Pro	p.A2081P	ENST00000307340	32/72	318	296	22	316	316	0	strelka-varscan-mutect	USH2A,missense_variant,p.Ala2081Pro,ENST00000307340,NM_206933.2;	G	ENST00000307340	Transcript	missense_variant	6628/18883	6241/15609	2081/5202	A/P	Gca/Cca		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(1)		32/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	6	216046515	216046515	C	G	1	0	0	0	0	1	0	0	0	17570	739	26	4		4	USH2A	1	216046515	Missense_Mutation	SNP	C	C3L-00009_TP	179408	216046515	32909907	38	1926											
MARK1	0	.	GRCh38	chr1	220632222	220632222	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattatggtcaccatgggctTtgcacgagatgaaataaatg	13	11	10	7	1	1	2	1	1	0	1	1	3	1	2	1	2	1	2	1	2	4	3	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.1031T>G	p.Phe344Cys	p.F344C	ENST00000611084	11/18	104	96	8	126	126	0	strelka-varscan-mutect	MARK1,missense_variant,p.Phe344Cys,ENST00000611084,NM_001286124.1;MARK1,missense_variant,p.Phe344Cys,ENST00000402574,NM_001286126.1;MARK1,missense_variant,p.Phe322Cys,ENST00000366918,NM_001286128.1;MARK1,missense_variant,p.Phe344Cys,ENST00000366917,NM_018650.4;HDAC1P2,downstream_gene_variant,,ENST00000602936,;HDAC1P2,downstream_gene_variant,,ENST00000453661,;	G	ENST00000611084	Transcript	missense_variant	1671/5321	1031/2391	344/796	F/C	tTt/tGt		1		1	MARK1	HGNC	HGNC:6896	protein_coding	YES	CCDS73033.1	ENSP00000483424		A0A087X0I6	UPI0000E592B1	NM_001286124.1	deleterious(0)		11/18		PROSITE_profiles:PS50030,hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF21,Pfam_domain:PF00627,Gene3D:1.10.8.10,SMART_domains:SM00165																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	6	220632222	220632222	T	G	1	0	0	0	0	1	0	0	0	9237	1841	64	5		5	MARK1	1	220632222	Missense_Mutation	SNP	T	C3L-00009_TP	4585707	220632222	28324200	39	1927											
MARK1	0	.	GRCh38	chr1	220635514	220635514	+	Missense_Mutation	SNP	C	C	T																															cagcaaatcagaagcagcggCgtttcagtgatcatggtagg																								rs767820453		C3L-00009_TP	C3L-00009_NB	C	C																c.1261C>T	p.Arg421Cys	p.R421C	ENST00000611084	12/18	102	92	10	132	132	0	varscan-mutect	MARK1,missense_variant,p.Arg421Cys,ENST00000611084,NM_001286124.1;MARK1,missense_variant,p.Arg421Cys,ENST00000402574,NM_001286126.1;MARK1,missense_variant,p.Arg399Cys,ENST00000366918,NM_001286128.1;MARK1,missense_variant,p.Arg421Cys,ENST00000366917,NM_018650.4;	T	ENST00000611084	Transcript	missense_variant	1901/5321	1261/2391	421/796	R/C	Cgt/Tgt	rs767820453,COSM1491954	1		1	MARK1	HGNC	HGNC:6896	protein_coding	YES	CCDS73033.1	ENSP00000483424		A0A087X0I6	UPI0000E592B1	NM_001286124.1	deleterious(0)		12/18		hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF21											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs767820453	.												T	3	4	6	220635514	220635514	C	T	1	0	0	0	0	1	0	0	0	9237	768	27	1		1	MARK1	1	220635514	Missense_Mutation	SNP	C	C3L-00009_TP	3292	220635514	28320908	40	1928	46	2									
MARK1	0	.	GRCh38	chr1	220635515	220635515	+	Missense_Mutation	SNP	G	G	T																															agcaaatcagaagcagcggcGtttcagtgatcatggtaggg																								novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1262G>T	p.Arg421Leu	p.R421L	ENST00000611084	12/18	99	89	10	129	129	0	varscan-mutect	MARK1,missense_variant,p.Arg421Leu,ENST00000611084,NM_001286124.1;MARK1,missense_variant,p.Arg421Leu,ENST00000402574,NM_001286126.1;MARK1,missense_variant,p.Arg399Leu,ENST00000366918,NM_001286128.1;MARK1,missense_variant,p.Arg421Leu,ENST00000366917,NM_018650.4;	T	ENST00000611084	Transcript	missense_variant	1902/5321	1262/2391	421/796	R/L	cGt/cTt		1		1	MARK1	HGNC	HGNC:6896	protein_coding	YES	CCDS73033.1	ENSP00000483424		A0A087X0I6	UPI0000E592B1	NM_001286124.1	deleterious(0)		12/18		hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF21																	MODERATE	1	SNV	1			1										PASS		rs962103935	.												T	3	4	6	220635515	220635515	G	T	1	0	0	0	0	1	0	0	0	9237	1145	40	1		1	MARK1	1	220635515	Missense_Mutation	SNP	G	C3L-00009_TP	1	220635515	28320907	41	1929	46	2									
DNAH14	0	.	GRCh38	chr1	224923323	224923323	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtaatgcaccctttcctCtgctggatgctgttggttct	5	16	10	10	0	2	0	0	0	2	0	3	2	3	1	2	2	3	6	2	2	1	4	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.151C>T	p.=	p.L51L	ENST00000445597	2/61	221	208	13	288	288	0	strelka-varscan-mutect	DNAH14,synonymous_variant,p.=,ENST00000445597,;	T	ENST00000445597	Transcript	synonymous_variant	151/10524	151/10524	51/3507	L	Ctg/Ttg		1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000409472	Q0VDD8		UPI0001642868				2/61																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	6	224923323	224923323	C	T	1	0	0	0	0	0	0	0	1	4415	912	32	3		3	DNAH14	1	224923323	Silent	SNP	C	C3L-00009_TP	4287808	224923323	24033099	42	1930											
H3F3A	0	.	GRCh38	chr1	226064403	226064403	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccggtggtaaagcacccAggaagcaactggctacaaaa	15	4	11	11	2	0	0	0	0	0	0	0	2	0	1	2	4	4	4	2	4	7	2	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.52A>G	p.Arg18Gly	p.R18G	ENST00000366813	1/3	244	225	19	346	346	0	varscan-mutect	H3F3A,missense_variant,p.Arg18Gly,ENST00000366814,;H3F3A,missense_variant,p.Arg18Gly,ENST00000366813,;H3F3A,missense_variant,p.Arg18Gly,ENST00000366815,NM_002107.4;H3F3A,missense_variant,p.Arg18Gly,ENST00000366816,;RP11-396C23.4,upstream_gene_variant,,ENST00000609423,;	G	ENST00000366813	Transcript	missense_variant	427/1308	52/411	18/136	R/G	Agg/Ggg		1		1	H3F3A	HGNC	HGNC:4764	protein_coding	YES	CCDS1550.1	ENSP00000355778	P84243	B2R4P9	UPI00000007B0		deleterious_low_confidence(0.02)		1/3		hmmpanther:PTHR11426,PROSITE_patterns:PS00322,Pfam_domain:PF00125,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00622																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	6	226064403	226064403	A	G	1	0	0	0	0	1	0	0	0	6815	179	7	5		5	H3F3A	1	226064403	Missense_Mutation	SNP	A	C3L-00009_TP	1141080	226064403	22892019	43	1931											
TRIM17	0	.	GRCh38	chr1	228411114	228411114	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctgctcttcttccacCaggtagaggttcatcttctc	6	14	7	14	0	6	1	1	0	5	1	8	1	7	1	3	2	2	3	3	2	1	5	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.588G>C	p.=	p.L196L	ENST00000366697	3/6	159	146	13	186	186	0	strelka-varscan-mutect	TRIM17,synonymous_variant,p.=,ENST00000366697,;TRIM17,synonymous_variant,p.=,ENST00000366698,NM_016102.3;TRIM17,synonymous_variant,p.=,ENST00000456946,NM_001134855.1;TRIM17,synonymous_variant,p.=,ENST00000295033,NM_001024940.2;TRIM17,synonymous_variant,p.=,ENST00000479800,;TRIM11,upstream_gene_variant,,ENST00000284551,NM_145214.2;TRIM11,upstream_gene_variant,,ENST00000366699,;TRIM17,downstream_gene_variant,,ENST00000355586,;TRIM11,upstream_gene_variant,,ENST00000602582,;TRIM11,upstream_gene_variant,,ENST00000602308,;TRIM17,downstream_gene_variant,,ENST00000457345,;TRIM17,downstream_gene_variant,,ENST00000520264,;RP11-245P10.4,downstream_gene_variant,,ENST00000436779,;	G	ENST00000366697	Transcript	synonymous_variant	1545/2652	588/1434	196/477	L	ctG/ctC		1		-1	TRIM17	HGNC	HGNC:13430	protein_coding	YES	CCDS1571.1	ENSP00000355658	Q9Y577	A0A024R3T1	UPI000000163B				3/6		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF397																	LOW		SNV	2			1										PASS		rs1158150851	.												G	2	3	6	228411114	228411114	C	G	1	0	0	0	0	0	0	0	1	16982	581	21	4		4	TRIM17	1	228411114	Silent	SNP	C	C3L-00009_TP	2346711	228411114	20545308	44	1932											
RYR2	0	.	GRCh38	chr1	237783820	237783820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatacttttaaagaatatgaCcccgatggcaagggagtcat	14	10	10	7	1	1	2	1	1	0	1	1	5	1	3	2	2	1	1	2	2	6	4	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.12108C>A	p.Asp4036Glu	p.D4036E	ENST00000366574	90/105	390	336	54	579	578	1	strelka-varscan-mutect	RYR2,missense_variant,p.Asp4036Glu,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Asp4020Glu,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	A	ENST00000366574	Transcript	missense_variant	12425/16562	12108/14904	4036/4967	D/E	gaC/gaA		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.07)		90/105		Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	237783820	237783820	C	A	1	0	0	0	0	1	0	0	0	14029	506	18	2		2	RYR2	1	237783820	Missense_Mutation	SNP	C	C3L-00009_TP	9372706	237783820	11172602	45	1933											
FMN2	0	.	GRCh38	chr1	240092475	240092475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accaagactccagacctcagCctctcggcggacgaggccgg	9	4	12	16	4	2	2	1	0	1	2	4	4	3	3	5	4	1	0	5	4	1	0	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.366C>G	p.Ser122Arg	p.S122R	ENST00000319653	1/18	221	194	27	365	365	0	strelka-varscan-mutect	FMN2,missense_variant,p.Ser122Arg,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,intron_variant,,ENST00000447095,;	G	ENST00000319653	Transcript	missense_variant	596/6434	366/5169	122/1722	S/R	agC/agG		1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4	deleterious(0.05)		1/18																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	6	240092475	240092475	C	G	1	0	0	0	0	1	0	0	0	5806	738	26	4		4	FMN2	1	240092475	Missense_Mutation	SNP	C	C3L-00009_TP	2308655	240092475	8863947	46	1934											
FMN2	0	.	GRCh38	chr1	240207250	240207250	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcacagcctccaccacCtccatcccttctgtggtctg	6	11	5	19	0	3	0	1	0	3	0	7	0	6	0	6	1	1	0	6	1	0	1	rs750017017		C3L-00009_TP	C3L-00009_NB	C	C																c.2438C>A	p.Pro813His	p.P813H	ENST00000319653	5/18	188	161	27	286	286	0	strelka-varscan-mutect	FMN2,missense_variant,p.Pro813His,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;	A	ENST00000319653	Transcript	missense_variant	2668/6434	2438/5169	813/1722	P/H	cCt/cAt	rs750017017	1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4	deleterious_low_confidence(0)		5/18		Low_complexity_(Seg):seg,SMART_domains:SM00498																	MODERATE	1	SNV	5			1										PASS		rs750017017	.												A	3	1	6	240207250	240207250	C	A	1	0	0	0	0	1	0	0	0	5806	681	24	2		2	FMN2	1	240207250	Missense_Mutation	SNP	C	C3L-00009_TP	114775	240207250	8749172	47	1935											
EXO1	0	.	GRCh38	chr1	241879173	241879173	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacctctttgcctgagaatAatatgtctgatgtgtcgcag	9	13	9	10	1	2	2	0	2	2	1	3	3	2	2	3	0	1	1	3	0	3	3	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.1939A>C	p.Asn647His	p.N647H	ENST00000366548	13/16	77	67	10	116	116	0	strelka-varscan-mutect	EXO1,missense_variant,p.Asn647His,ENST00000366548,NM_130398.3;EXO1,missense_variant,p.Asn647His,ENST00000348581,NM_001319224.1,NM_006027.4;EXO1,missense_variant,p.Asn647His,ENST00000518483,NM_003686.4;EXO1,missense_variant,p.Asn46His,ENST00000521202,;	C	ENST00000366548	Transcript	missense_variant	2532/3473	1939/2541	647/846	N/H	Aat/Cat		1		1	EXO1	HGNC	HGNC:3511	protein_coding	YES	CCDS1620.1	ENSP00000355506	Q9UQ84		UPI000013DDA8	NM_130398.3	tolerated(0.09)		13/16		hmmpanther:PTHR11081:SF8,hmmpanther:PTHR11081																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	241879173	241879173	A	C	1	0	0	0	0	1	0	0	0	5167	362	13	5		5	EXO1	1	241879173	Missense_Mutation	SNP	A	C3L-00009_TP	1671923	241879173	7077249	48	1936											
KIF26B	0	.	GRCh38	chr1	245156652	245156652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcaagaggcaggccctgaGgttgctcctcccggggccct	5	7	14	15	1	1	2	1	1	0	1	3	2	3	2	4	5	1	4	4	5	1	1	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.434G>T	p.Arg145Met	p.R145M	ENST00000407071	2/15	260	212	48	306	306	0	strelka-varscan-mutect	KIF26B,missense_variant,p.Arg145Met,ENST00000407071,NM_018012.3;	T	ENST00000407071	Transcript	missense_variant	874/7287	434/6327	145/2108	R/M	aGg/aTg		1		1	KIF26B	HGNC	HGNC:25484	protein_coding	YES	CCDS44342.1	ENSP00000385545	Q2KJY2		UPI0000695D71	NM_018012.3	deleterious(0)		2/15																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	245156652	245156652	G	T	1	0	0	0	0	1	0	0	0	8160	1000	35	2		2	KIF26B	1	245156652	Missense_Mutation	SNP	G	C3L-00009_TP	3277479	245156652	3799770	49	1937											
OR2M7	0	.	GRCh38	chr1	248323961	248323961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaacaagcattactataCagcagatgaaaataacctct	19	8	6	8	0	1	2	0	1	1	1	1	3	1	3	1	1	6	2	1	1	9	4	rs555916714		C3L-00009_TP	C3L-00009_NB	C	C																c.608G>T	p.Cys203Phe	p.C203F	ENST00000317965	1/1	384	318	66	549	549	0	strelka-varscan-mutect	OR2M7,missense_variant,p.Cys203Phe,ENST00000317965,NM_001004691.1;	A	ENST00000317965	Transcript	missense_variant	608/939	608/939	203/312	C/F	tGt/tTt	rs555916714	1		-1	OR2M7	HGNC	HGNC:19594	protein_coding	YES	CCDS31111.1	ENSP00000324557	Q8NG81	A0A126GVZ1	UPI000004B236	NM_001004691.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF28,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs555916714	.												A	3	1	6	248323961	248323961	C	A	1	0	0	0	0	1	0	0	0	11092	478	17	2		2	OR2M7	1	248323961	Missense_Mutation	SNP	C	C3L-00009_TP	3167309	248323961	632461	50	1938											
OR2T2	0	.	GRCh38	chr1	248453659	248453659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcacccccatgctcaacCcactcatctacagcttgagg	9	9	5	18	0	4	1	3	1	1	0	5	1	5	1	4	1	4	2	4	1	2	2	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.862C>T	p.Pro288Ser	p.P288S	ENST00000342927	1/1	297	278	19	473	473	0	varscan-mutect	OR2T2,missense_variant,p.Pro288Ser,ENST00000342927,NM_001004136.1;	T	ENST00000342927	Transcript	missense_variant	862/975	862/975	288/324	P/S	Cca/Tca		1		1	OR2T2	HGNC	HGNC:14725	protein_coding	YES	CCDS31116.1	ENSP00000343062	Q6IF00		UPI0000048DB0	NM_001004136.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1482568720	.												T	3	4	6	248453659	248453659	C	T	1	0	0	0	0	1	0	0	0	11097	623	22	3		3	OR2T2	1	248453659	Missense_Mutation	SNP	C	C3L-00009_TP	129698	248453659	502763	51	1939											
TPO	0	.	GRCh38	chr2	1493920	1493920	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacttgtacaagcatccTgacaacatcgatgtctggct	10	11	9	11	1	1	1	0	1	1	0	3	3	2	2	1	2	3	3	1	2	3	2	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.1887T>A	p.=	p.P629P	ENST00000345913	11/17	587	543	44	803	803	0	strelka-varscan-mutect	TPO,synonymous_variant,p.=,ENST00000422464,;TPO,synonymous_variant,p.=,ENST00000345913,NM_000547.5;TPO,synonymous_variant,p.=,ENST00000329066,NM_001206744.1;TPO,synonymous_variant,p.=,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,synonymous_variant,p.=,ENST00000346956,NM_175721.3;TPO,synonymous_variant,p.=,ENST00000382198,NM_175722.3;TPO,synonymous_variant,p.=,ENST00000446278,;TPO,synonymous_variant,p.=,ENST00000469607,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;TPO,non_coding_transcript_exon_variant,,ENST00000462973,;	A	ENST00000345913	Transcript	synonymous_variant	1978/3145	1887/2802	629/933	P	ccT/ccA		1		1	TPO	HGNC	HGNC:12015	protein_coding	YES	CCDS1643.1	ENSP00000318820	P07202		UPI000013D480	NM_000547.5			11/17		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF60,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	6	1493920	1493920	T	A	1	0	0	0	0	0	0	0	1	16891	1567	55	4		4	TPO	2	1493920	Silent	SNP	T	C3L-00009_TP		1493920	240699609	52	1940											
WDCP	0	.	GRCh38	chr2	24037696	24037696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggtaaatgatgtgaacaTaaggaagatcttgagagagt	15	10	12	4	0	1	5	0	3	1	2	1	7	1	6	1	2	1	1	1	2	5	3	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.1799A>G	p.Tyr600Cys	p.Y600C	ENST00000295148	2/4	49	38	11	67	67	0	strelka-varscan-mutect	WDCP,missense_variant,p.Tyr600Cys,ENST00000295148,NM_025203.2;WDCP,missense_variant,p.Tyr600Cys,ENST00000406895,NM_001142319.1;WDCP,downstream_gene_variant,,ENST00000443232,;MFSD2B,intron_variant,,ENST00000453731,;	C	ENST00000295148	Transcript	missense_variant	1857/3817	1799/2166	600/721	Y/C	tAt/tGt		1		-1	WDCP	HGNC	HGNC:26157	protein_coding	YES	CCDS1705.1	ENSP00000295148	Q9H6R7		UPI0000070788	NM_025203.2	deleterious(0.04)		2/4		Pfam_domain:PF15390,hmmpanther:PTHR14897,hmmpanther:PTHR14897:SF5																	MODERATE	1	SNV	2			1										PASS		rs756155854	.												C	3	2	6	24037696	24037696	T	C	1	0	0	0	0	1	0	0	0	17827	1406	49	5		5	WDCP	2	24037696	Missense_Mutation	SNP	T	C3L-00009_TP	22543776	24037696	218155833	53	1941											
ITSN2	0	.	GRCh38	chr2	24204259	24204259	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaccatctggtgaaaacTggtctctgtcaaacagggtg	11	11	10	9	0	3	1	1	1	2	0	4	1	3	1	1	3	3	0	1	3	4	1	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.4922A>T	p.Gln1641Leu	p.Q1641L	ENST00000355123	39/40	227	199	28	261	261	0	strelka-varscan-mutect	ITSN2,missense_variant,p.Gln1641Leu,ENST00000355123,NM_006277.2;ITSN2,missense_variant,p.Gln1614Leu,ENST00000361999,NM_019595.3;ITSN2,missense_variant,p.Gln1624Leu,ENST00000622089,;FAM228A,downstream_gene_variant,,ENST00000415196,;AC008073.9,upstream_gene_variant,,ENST00000429717,;ITSN2,3_prime_UTR_variant,,ENST00000427234,;ITSN2,non_coding_transcript_exon_variant,,ENST00000478720,;ITSN2,downstream_gene_variant,,ENST00000479575,;ITSN2,downstream_gene_variant,,ENST00000449392,;	A	ENST00000355123	Transcript	missense_variant	5366/6300	4922/5094	1641/1697	Q/L	cAg/cTg		1		-1	ITSN2	HGNC	HGNC:6184	protein_coding	YES	CCDS1710.2	ENSP00000347244	Q9NZM3		UPI000013D415	NM_006277.2	tolerated(0.21)		39/40		PROSITE_profiles:PS50004,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	24204259	24204259	T	A	1	0	0	0	0	1	0	0	0	7833	1580	55	4		4	ITSN2	2	24204259	Missense_Mutation	SNP	T	C3L-00009_TP	166563	24204259	217989270	54	1942											
MEMO1	0	.	GRCh38	chr2	31963221	31963221	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcacatcttggcacttGtcagccctccataatggcat	9	11	8	13	0	2	0	1	0	1	0	3	1	3	0	2	2	2	3	2	2	1	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.21C>G	p.Asp7Glu	p.D7E	ENST00000379383	1/9	80	75	5	108	108	0	strelka-varscan-mutect	MEMO1,missense_variant,p.Asp7Glu,ENST00000379383,;MEMO1,intron_variant,,ENST00000295065,NM_015955.3;MEMO1,intron_variant,,ENST00000404530,NM_001301833.1;MEMO1,intron_variant,,ENST00000426310,NM_001137602.2;MEMO1,intron_variant,,ENST00000407893,;DPY30,intron_variant,,ENST00000446765,;MEMO1,intron_variant,,ENST00000490459,;MEMO1,intron_variant,,ENST00000413686,;	C	ENST00000379383	Transcript	missense_variant	78/1498	21/903	7/300	D/E	gaC/gaG		1		-1	MEMO1	HGNC	HGNC:14014	protein_coding			ENSP00000368691	Q9Y316		UPI00004906CE		tolerated_low_confidence(1)		1/9																			MODERATE		SNV	1			1										PASS		.	.												C	3	2	6	31963221	31963221	G	C	1	0	0	0	0	1	0	0	0	9416	1368	48	4		4	MEMO1	2	31963221	Missense_Mutation	SNP	G	C3L-00009_TP	7758962	31963221	210230308	55	1943											
PPP1R21	0	.	GRCh38	chr2	48510060	48510060	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccttggctgaaaagtctaagGaagcattgacagaagaaatg	16	8	11	6	0	1	4	0	2	1	2	1	5	1	5	1	2	1	2	1	2	6	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.2131G>C	p.Glu711Gln	p.E711Q	ENST00000294952	20/22	148	123	25	165	165	0	strelka-varscan-mutect	PPP1R21,missense_variant,p.Glu711Gln,ENST00000294952,NM_001135629.2;PPP1R21,missense_variant,p.Glu700Gln,ENST00000281394,NM_152994.4;PPP1R21,missense_variant,p.Glu669Gln,ENST00000449090,NM_001193475.1;PPP1R21,non_coding_transcript_exon_variant,,ENST00000476199,;PPP1R21,3_prime_UTR_variant,,ENST00000416913,;PPP1R21,3_prime_UTR_variant,,ENST00000431614,;	C	ENST00000294952	Transcript	missense_variant	2288/3142	2131/2343	711/780	E/Q	Gaa/Caa		1		1	PPP1R21	HGNC	HGNC:30595	protein_coding	YES	CCDS46278.1	ENSP00000294952	Q6ZMI0		UPI000015C523	NM_001135629.2	tolerated(0.14)		20/22		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10212,hmmpanther:PTHR21448																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	48510060	48510060	G	C	1	0	0	0	0	1	0	0	0	12483	1175	41	4		4	PPP1R21	2	48510060	Missense_Mutation	SNP	G	C3L-00009_TP	16546839	48510060	193683469	56	1944											
ETAA1	0	.	GRCh38	chr2	67403607	67403607	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggctttttggagcaccAgtaatactacctttgtaaag	12	12	9	8	0	0	1	0	0	0	1	0	2	0	2	2	2	3	4	2	2	5	7	rs773474602		C3L-00009_TP	C3L-00009_NB	A	A																c.925A>C	p.Ser309Arg	p.S309R	ENST00000272342	5/6	131	104	27	179	178	1	strelka-varscan-mutect	ETAA1,missense_variant,p.Ser309Arg,ENST00000272342,NM_019002.3;ETAA1,intron_variant,,ENST00000462772,;	C	ENST00000272342	Transcript	missense_variant	1055/3418	925/2781	309/926	S/R	Agt/Cgt	rs773474602	1		1	ETAA1	HGNC	HGNC:24648	protein_coding	YES	CCDS1882.1	ENSP00000272342	Q9NY74		UPI00001414BC	NM_019002.3	deleterious(0.04)		5/6		Pfam_domain:PF15350,hmmpanther:PTHR16434																	MODERATE	1	SNV	1			1										PASS		rs773474602	.												C	3	2	6	67403607	67403607	A	C	1	0	0	0	0	1	0	0	0	5129	188	7	5		5	ETAA1	2	67403607	Missense_Mutation	SNP	A	C3L-00009_TP	18893547	67403607	174789922	57	1945											
ADD2	0	.	GRCh38	chr2	70706308	70706308	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtccgccgcccggttgcgaAggcgcatgtactcggggtcg	4	7	17	13	7	0	0	0	0	0	0	3	1	1	0	3	5	2	3	3	5	2	2	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.101T>A	p.Leu34His	p.L34H	ENST00000264436	3/16	230	197	33	326	326	0	strelka-varscan-mutect	ADD2,missense_variant,p.Leu34His,ENST00000264436,NM_001617.3;ADD2,missense_variant,p.Leu34His,ENST00000413157,NM_017482.3;ADD2,missense_variant,p.Leu34His,ENST00000407644,NM_001185054.1;ADD2,missense_variant,p.Leu34His,ENST00000355733,NM_017488.3;ADD2,missense_variant,p.Leu50His,ENST00000430656,NM_001185055.1;ADD2,missense_variant,p.Leu34His,ENST00000456320,;ADD2,missense_variant,p.Leu34His,ENST00000415348,;ADD2,missense_variant,p.Leu34His,ENST00000522886,;ADD2,missense_variant,p.Leu34His,ENST00000425976,;ADD2,downstream_gene_variant,,ENST00000447731,;ADD2,downstream_gene_variant,,ENST00000473232,;ADD2,missense_variant,p.Leu34His,ENST00000403045,;	T	ENST00000264436	Transcript	missense_variant	546/9267	101/2181	34/726	L/H	cTt/cAt		1		-1	ADD2	HGNC	HGNC:244	protein_coding	YES	CCDS1906.1	ENSP00000264436	P35612		UPI0000125503	NM_001617.3	deleterious(0.05)		3/16		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	70706308	70706308	A	T	1	0	0	0	0	1	0	0	0	349	72	3	4		4	ADD2	2	70706308	Missense_Mutation	SNP	A	C3L-00009_TP	3302701	70706308	171487221	58	1946											
REG1B	0	.	GRCh38	chr2	79086854	79086854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcttcattaaagtagtaGcagtaggagcgataggcatt	12	11	13	5	1	2	0	1	0	1	0	2	2	2	1	0	3	2	5	0	3	6	7	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.141C>G	p.Cys47Trp	p.C47W	ENST00000305089	3/6	350	304	46	387	387	0	strelka-varscan-mutect	REG1B,missense_variant,p.Cys47Trp,ENST00000305089,NM_006507.3;REG1B,upstream_gene_variant,,ENST00000454188,;REG1B,non_coding_transcript_exon_variant,,ENST00000479258,;REG1B,non_coding_transcript_exon_variant,,ENST00000476554,;REG1B,downstream_gene_variant,,ENST00000469052,;	C	ENST00000305089	Transcript	missense_variant	222/767	141/501	47/166	C/W	tgC/tgG		1		-1	REG1B	HGNC	HGNC:9952	protein_coding	YES	CCDS1963.1	ENSP00000303206	P48304	Q6ICS1	UPI00000012AB	NM_006507.3	deleterious(0)		3/6		PROSITE_profiles:PS50041,hmmpanther:PTHR22801:SF55,hmmpanther:PTHR22801,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	79086854	79086854	G	C	1	0	0	0	0	1	0	0	0	13381	963	34	4		4	REG1B	2	79086854	Missense_Mutation	SNP	G	C3L-00009_TP	8380546	79086854	163106675	59	1947											
TEX37	0	.	GRCh38	chr2	88526455	88526455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacatggtcgactatcaGccctacaggaagcacaaata	14	7	7	13	1	1	0	1	0	0	0	3	2	2	1	2	2	3	1	2	2	5	3			C3L-00009_TP	C3L-00009_NB	G	G																c.78G>T	p.Gln26His	p.Q26H	ENST00000303254	3/4	250	215	35	253	253	0	strelka-varscan-mutect	TEX37,missense_variant,p.Gln26His,ENST00000303254,NM_152670.2;	T	ENST00000303254	Transcript	missense_variant	220/795	78/543	26/180	Q/H	caG/caT	COSM1023582	1		1	TEX37	HGNC	HGNC:26341	protein_coding	YES	CCDS2003.1	ENSP00000307142	Q96LM6	A0A140VK60	UPI0000072E9C	NM_152670.2	deleterious_low_confidence(0.01)		3/4		hmmpanther:PTHR36882,hmmpanther:PTHR36882:SF1,Pfam_domain:PF15217											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	6	88526455	88526455	G	T	1	0	0	0	0	1	0	0	0	16213	962	34	2		2	TEX37	2	88526455	Missense_Mutation	SNP	G	C3L-00009_TP	9439601	88526455	153667074	60	1948											
ZC3H6	0	.	GRCh38	chr2	112331715	112331715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccattgatccaaaattaGcagccaaagccaaaattaac	17	9	5	10	0	0	1	0	1	0	0	2	1	2	1	4	0	4	1	4	0	7	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.2797G>A	p.Ala933Thr	p.A933T	ENST00000409871	12/12	124	101	23	179	179	0	strelka-varscan-mutect	ZC3H6,missense_variant,p.Ala933Thr,ENST00000409871,NM_198581.2;ZC3H6,missense_variant,p.Ala933Thr,ENST00000343936,;ZC3H6,upstream_gene_variant,,ENST00000502881,;	A	ENST00000409871	Transcript	missense_variant	3198/11542	2797/3570	933/1189	A/T	Gca/Aca		1		1	ZC3H6	HGNC	HGNC:24762	protein_coding	YES	CCDS46393.1	ENSP00000386764	P61129		UPI00004215E8	NM_198581.2	deleterious(0.01)		12/12		hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF22																	MODERATE	1	SNV	2			1										PASS		rs1301571839	.												A	3	1	6	112331715	112331715	G	A	1	0	0	0	0	1	0	0	0	18146	971	34	3		3	ZC3H6	2	112331715	Missense_Mutation	SNP	G	C3L-00009_TP	23805260	112331715	129861814	61	1949											
TMEM185B	0	.	GRCh38	chr2	120222604	120222604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcaggcagccacggacaCgggggacacgaagaagagag	14	0	17	10	4	0	2	0	0	0	2	0	7	0	4	1	4	1	2	1	4	2	0	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.373G>T	p.Val125Leu	p.V125L	ENST00000426077	1/1	289	238	51	378	378	0	strelka-varscan-mutect	TMEM185B,missense_variant,p.Val125Leu,ENST00000426077,NM_024121.2;	A	ENST00000426077	Transcript	missense_variant	805/2131	373/1053	125/350	V/L	Gtg/Ttg		1		-1	TMEM185B	HGNC	HGNC:18896	protein_coding	YES	CCDS58722.1	ENSP00000453399	Q9H7F4		UPI0000074167	NM_024121.2	tolerated(0.19)		1/1		Pfam_domain:PF10269,hmmpanther:PTHR13568,hmmpanther:PTHR13568:SF5,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	6	120222604	120222604	C	A	1	0	0	0	0	1	0	0	0	16551	536	19	1		1	TMEM185B	2	120222604	Missense_Mutation	SNP	C	C3L-00009_TP	7890889	120222604	121970925	62	1950											
CNTNAP5	0	.	GRCh38	chr2	124790083	124790083	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagtgtgtggagaagcaCaatggctacctgtgtgattg	10	10	15	6	0	0	2	0	1	0	1	0	3	0	2	1	3	2	3	1	3	4	2	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.2931C>A	p.His977Gln	p.H977Q	ENST00000431078	18/24	213	185	28	276	276	0	strelka-varscan-mutect	CNTNAP5,missense_variant,p.His977Gln,ENST00000431078,NM_130773.3;	A	ENST00000431078	Transcript	missense_variant	3295/5284	2931/3921	977/1306	H/Q	caC/caA		1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3	tolerated(0.41)		18/24		PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF665,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	124790083	124790083	C	A	1	0	0	0	0	1	0	0	0	3432	477	17	2		2	CNTNAP5	2	124790083	Missense_Mutation	SNP	C	C3L-00009_TP	4567479	124790083	117403446	63	1951											
POTEI	0	.	GRCh38	chr2	130508776	130508776	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacgatcagatcctttcTggcgactttaccccaccagg	9	10	8	14	2	2	2	1	1	1	1	3	4	3	2	4	2	1	0	4	2	1	3	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.460A>T	p.Arg154Ter	p.R154*	ENST00000451531	1/15	97	83	14	185	185	0	varscan-mutect	POTEI,stop_gained,p.Arg154Ter,ENST00000451531,NM_001277406.1;POTEI,stop_gained,p.Arg154Ter,ENST00000631234,;POTEI,stop_gained,p.Arg154Ter,ENST00000615053,;	A	ENST00000451531	Transcript	stop_gained	891/7020	460/3228	154/1075	R/*	Aga/Tga		1		-1	POTEI	HGNC	HGNC:37093	protein_coding	YES	CCDS59431.1	ENSP00000392718	P0CG38		UPI00006C04CB	NM_001277406.1			1/15		PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50,Pfam_domain:PF12796,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	6	130508776	130508776	T	A	1	0	0	0	0	0	1	0	0	12382	1588	55	4		4	POTEI	2	130508776	Nonsense_Mutation	SNP	T	C3L-00009_TP	5718693	130508776	111684753	64	1952											
PLEKHB2	0	.	GRCh38	chr2	131146773	131146773	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctattttgggtcttctaGgggcctcaaggtcttgatgt	5	17	11	8	0	5	1	1	1	4	0	6	1	5	1	1	4	0	0	1	4	3	6	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.711G>T	p.Ter237TyrextTer11	p.*237Yext*11	ENST00000403716	9/9	84	78	6	94	94	0	strelka-varscan-mutect	PLEKHB2,stop_lost,p.Ter237TyrextTer11,ENST00000403716,NM_001267063.1,NM_001267062.1;PLEKHB2,stop_lost,p.Ter222TyrextTer11,ENST00000234115,NM_017958.2;PLEKHB2,stop_lost,p.Ter223TyrextTer11,ENST00000409279,;PLEKHB2,stop_lost,p.Ter231TyrextTer11,ENST00000409158,NM_001267065.1,NM_001267064.1;PLEKHB2,stop_lost,p.Ter223TyrextTer11,ENST00000409612,NM_001100623.1;PLEKHB2,3_prime_UTR_variant,,ENST00000439822,NM_001267067.1;PLEKHB2,3_prime_UTR_variant,,ENST00000438882,NM_001267066.1;PLEKHB2,3_prime_UTR_variant,,ENST00000628582,NM_001267068.1;PLEKHB2,intron_variant,,ENST00000404460,;	T	ENST00000403716	Transcript	stop_lost	1271/4349	711/711	237/236	*/Y	taG/taT		1		1	PLEKHB2	HGNC	HGNC:19236	protein_coding	YES	CCDS74576.1	ENSP00000385892		A0A0A0MSE9	UPI000264F47A	NM_001267063.1,NM_001267062.1			9/9																			HIGH	1	SNV	3			1										PASS		.	.												T	4	4	6	131146773	131146773	G	T	1	0	0	0	0	0	0	0	0	12157	995	35	2		2	PLEKHB2	2	131146773	Nonstop_Mutation	SNP	G	C3L-00009_TP	637997	131146773	111046756	65	1953											
NCKAP5	0	.	GRCh38	chr2	132784366	132784366	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggcttcgggctccattagTtttgatttctgaggtgaaga	7	15	13	6	1	1	4	0	3	1	1	3	4	2	4	1	3	0	3	1	3	2	5	rs776322123		C3L-00009_TP	C3L-00009_NB	T	T																c.2445A>C	p.Lys815Asn	p.K815N	ENST00000409261	14/20	197	176	21	218	217	1	strelka-varscan-mutect	NCKAP5,missense_variant,p.Lys815Asn,ENST00000409261,NM_207363.2;NCKAP5,missense_variant,p.Lys815Asn,ENST00000317721,;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,intron_variant,,ENST00000409213,NM_207481.3;NCKAP5,upstream_gene_variant,,ENST00000473859,;	G	ENST00000409261	Transcript	missense_variant	2819/7594	2445/5730	815/1909	K/N	aaA/aaC	rs776322123	1		-1	NCKAP5	HGNC	HGNC:29847	protein_coding	YES	CCDS46418.1	ENSP00000387128	O14513		UPI0000E07A3F	NM_207363.2	tolerated(0.06)		14/20		hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF0																	MODERATE	1	SNV	5			1										PASS		rs776322123	.												G	3	3	6	132784366	132784366	T	G	1	0	0	0	0	1	0	0	0	10241	1722	60	5		5	NCKAP5	2	132784366	Missense_Mutation	SNP	T	C3L-00009_TP	1637593	132784366	109409163	66	1954											
LRP1B	0	.	GRCh38	chr2	140442606	140442606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttacactggaaatagtctgGagaacagctgttttcagctt	11	13	9	8	0	2	1	1	0	1	1	2	3	2	2	0	2	4	3	0	2	4	5	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.10312C>A	p.Pro3438Thr	p.P3438T	ENST00000389484	66/91	186	151	35	231	231	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Pro3438Thr,ENST00000389484,NM_018557.2;	T	ENST00000389484	Transcript	missense_variant	11284/16535	10312/13800	3438/4599	P/T	Cca/Aca		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0.03)		66/91		PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	140442606	140442606	G	T	1	0	0	0	0	1	0	0	0	8850	1174	41	2		2	LRP1B	2	140442606	Missense_Mutation	SNP	G	C3L-00009_TP	7658240	140442606	101750923	67	1955											
PLA2R1	0	.	GRCh38	chr2	159945053	159945053	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccagtttgactggtctgtggGagttccatcaaaccacttta	9	13	9	10	0	2	1	1	1	1	0	3	2	3	2	3	2	1	2	3	2	2	4	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.3997C>G	p.Pro1333Ala	p.P1333A	ENST00000283243	28/30	160	129	31	197	197	0	strelka-varscan-mutect	PLA2R1,missense_variant,p.Pro1333Ala,ENST00000283243,NM_007366.4,NM_001195641.1;PLA2R1,downstream_gene_variant,,ENST00000392771,NM_001007267.2;PLA2R1,upstream_gene_variant,,ENST00000460710,;	C	ENST00000283243	Transcript	missense_variant	4204/14371	3997/4392	1333/1463	P/A	Ccc/Gcc		1		-1	PLA2R1	HGNC	HGNC:9042	protein_coding	YES	CCDS33309.1	ENSP00000283243	Q13018		UPI00001AEA9D	NM_007366.4,NM_001195641.1	tolerated(0.08)		28/30		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF74,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	159945053	159945053	G	C	1	0	0	0	0	1	0	0	0	12106	1174	41	4		4	PLA2R1	2	159945053	Missense_Mutation	SNP	G	C3L-00009_TP	19502447	159945053	82248476	68	1956											
SCN7A	0	.	GRCh38	chr2	166432446	166432446	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggataagtgattggctctCattttcagtagcgtttttct	7	17	11	6	1	3	1	2	1	2	0	4	2	3	2	0	3	1	3	0	3	2	7	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.2464G>T	p.Glu822Ter	p.E822*	ENST00000409855	15/25	343	309	34	402	402	0	strelka-varscan-mutect	SCN7A,stop_gained,p.Glu822Ter,ENST00000619410,;SCN7A,stop_gained,p.Glu822Ter,ENST00000621965,;SCN7A,stop_gained,p.Glu822Ter,ENST00000409855,NM_002976.3;SCN7A,stop_gained,p.Glu822Ter,ENST00000419992,;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	A	ENST00000409855	Transcript	stop_gained	2591/7183	2464/5049	822/1682	E/*	Gag/Tag		1		-1	SCN7A	HGNC	HGNC:10594	protein_coding	YES	CCDS46442.1	ENSP00000386796	Q01118		UPI0000209019	NM_002976.3			15/25		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14,Pfam_domain:PF06512																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	6	166432446	166432446	C	A	1	0	0	0	0	0	1	0	0	14192	835	29	2		2	SCN7A	2	166432446	Nonsense_Mutation	SNP	C	C3L-00009_TP	6487393	166432446	75761083	69	1957											
ZNF385B	0	.	GRCh38	chr2	179483311	179483311	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgattggagtgatggAgcagctgggattagcctttg	7	12	16	6	0	0	2	0	2	0	0	0	5	0	5	2	3	3	2	2	3	1	3	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.631T>A	p.Ser211Thr	p.S211T	ENST00000410066	6/10	262	222	40	278	278	0	strelka-varscan-mutect	ZNF385B,missense_variant,p.Ser211Thr,ENST00000410066,NM_152520.4;ZNF385B,missense_variant,p.Ser135Thr,ENST00000409343,NM_001113397.1;ZNF385B,missense_variant,p.Ser109Thr,ENST00000336917,NM_001113398.1;ZNF385B,missense_variant,p.Ser109Thr,ENST00000409692,NM_001282725.1;ZNF385B,missense_variant,p.Ser109Thr,ENST00000457304,;ZNF385B,downstream_gene_variant,,ENST00000439340,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000466398,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000495289,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000475539,;ZNF385B,intron_variant,,ENST00000469551,;	T	ENST00000410066	Transcript	missense_variant	1235/3288	631/1416	211/471	S/T	Tcc/Acc		1		-1	ZNF385B	HGNC	HGNC:26332	protein_coding	YES	CCDS33339.1	ENSP00000386845	Q569K4		UPI00004F9C24	NM_152520.4	tolerated(0.6)		6/10		hmmpanther:PTHR23067:SF8,hmmpanther:PTHR23067																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	179483311	179483311	A	T	1	0	0	0	0	1	0	0	0	18449	304	11	4		4	ZNF385B	2	179483311	Missense_Mutation	SNP	A	C3L-00009_TP	13050865	179483311	62710218	70	1958											
ZNF804A	0	.	GRCh38	chr2	184937846	184937846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaacggaggcgaaaaagagGcagattccaccccggatttg	14	5	13	9	3	0	2	0	0	0	2	1	6	1	4	3	4	1	1	3	4	3	2	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.2450G>T	p.Gly817Val	p.G817V	ENST00000302277	4/4	236	206	30	326	325	1	strelka-varscan-mutect	ZNF804A,missense_variant,p.Gly817Val,ENST00000302277,NM_194250.1;ZNF804A,missense_variant,p.Gly732Val,ENST00000613975,;	T	ENST00000302277	Transcript	missense_variant	3044/4690	2450/3630	817/1209	G/V	gGc/gTc		1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1	deleterious(0.02)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	184937846	184937846	G	T	1	0	0	0	0	1	0	0	0	18755	1203	42	2		2	ZNF804A	2	184937846	Missense_Mutation	SNP	G	C3L-00009_TP	5454535	184937846	57255683	71	1959											
FSIP2	0	.	GRCh38	chr2	185804745	185804745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagagaaaaagtttccaccgGatgatgaatttgtggaggca	15	9	12	5	1	0	3	0	2	0	1	1	6	1	5	2	3	0	2	2	3	4	2	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.15706G>C	p.Asp5236His	p.D5236H	ENST00000343098	17/23	110	93	17	150	150	0	strelka-varscan-mutect	FSIP2,missense_variant,p.Asp5236His,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Asp5147His,ENST00000424728,;FSIP2,upstream_gene_variant,,ENST00000611759,;FSIP2-AS1,upstream_gene_variant,,ENST00000436557,;FSIP2-AS1,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;	C	ENST00000343098	Transcript	missense_variant	15706/21054	15706/20991	5236/6996	D/H	Gat/Cat		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	deleterious(0)		17/23		Pfam_domain:PF15783,Pfam_domain:PF15783,hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	6	185804745	185804745	G	C	1	0	0	0	0	1	0	0	0	5949	1174	41	4		4	FSIP2	2	185804745	Missense_Mutation	SNP	G	C3L-00009_TP	866899	185804745	56388784	72	1960											
NDUFS1	0	.	GRCh38	chr2	206127946	206127946	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagaataacatcagctaTgggagccccaacatcaccat	14	7	9	11	0	2	1	2	0	0	1	2	3	2	2	3	2	4	1	3	2	4	2	rs770664540		C3L-00009_TP	C3L-00009_NB	T	T																c.1777A>T	p.Ile593Leu	p.I593L	ENST00000455934	16/19	414	362	52	525	525	0	strelka-varscan-mutect	NDUFS1,missense_variant,p.Ile579Leu,ENST00000233190,NM_005006.6;NDUFS1,missense_variant,p.Ile593Leu,ENST00000455934,NM_001199984.1;NDUFS1,missense_variant,p.Ile522Leu,ENST00000423725,NM_001199983.1;NDUFS1,missense_variant,p.Ile543Leu,ENST00000440274,NM_001199981.1;NDUFS1,missense_variant,p.Ile579Leu,ENST00000449699,;NDUFS1,missense_variant,p.Ile463Leu,ENST00000457011,;NDUFS1,missense_variant,p.Ile468Leu,ENST00000432169,NM_001199982.1;NDUFS1,non_coding_transcript_exon_variant,,ENST00000498520,;	A	ENST00000455934	Transcript	missense_variant	1838/3361	1777/2226	593/741	I/L	Ata/Tta	rs770664540	1		-1	NDUFS1	HGNC	HGNC:7707	protein_coding	YES	CCDS56165.1	ENSP00000392709	P28331		UPI0000EE3600	NM_001199984.1	tolerated(0.66)		16/19		hmmpanther:PTHR11615:SF115,hmmpanther:PTHR11615,Gene3D:3.40.50.740,Pfam_domain:PF00384,TIGRFAM_domain:TIGR01973,Superfamily_domains:SSF53706																	MODERATE	1	SNV	2			1										PASS		rs770664540	.												A	3	1	6	206127946	206127946	T	A	1	0	0	0	0	1	0	0	0	10315	1464	51	4		4	NDUFS1	2	206127946	Missense_Mutation	SNP	T	C3L-00009_TP	20323201	206127946	36065583	73	1961											
FZD5	0	.	GRCh38	chr2	207767750	207767750	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaggatgacccaccagatGgagctggccatgccgaagaa	13	4	13	11	1	0	3	0	1	0	2	0	7	0	5	4	3	2	1	4	3	2	0	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.990C>T	p.=	p.S330S	ENST00000295417	2/2	355	305	50	491	490	1	strelka-varscan-mutect	FZD5,synonymous_variant,p.=,ENST00000295417,NM_003468.3;	A	ENST00000295417	Transcript	synonymous_variant	1544/6708	990/1758	330/585	S	tcC/tcT		1		-1	FZD5	HGNC	HGNC:4043	protein_coding	YES	CCDS33366.1	ENSP00000354607	Q13467		UPI000013E255	NM_003468.3			2/2		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF91,Pfam_domain:PF01534,SMART_domains:SM01330,Prints_domain:PR00489																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	6	207767750	207767750	G	A	1	0	0	0	0	0	0	0	1	6004	1335	47	3		3	FZD5	2	207767750	Silent	SNP	G	C3L-00009_TP	1639804	207767750	34425779	74	1962											
UNC80	0	.	GRCh38	chr2	209912598	209912598	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaggacaccttctctaaaGaagagagtttcagatgccaa	14	9	9	9	0	2	4	1	1	1	3	3	6	2	5	2	1	1	1	2	1	4	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.4623G>C	p.Lys1541Asn	p.K1541N	ENST00000439458	29/64	204	177	27	218	218	0	strelka-varscan-mutect	UNC80,missense_variant,p.Lys1541Asn,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Lys1536Asn,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	C	ENST00000439458	Transcript	missense_variant	4703/13562	4623/9777	1541/3258	K/N	aaG/aaC		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1	deleterious(0.03)		29/64		hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	6	209912598	209912598	G	C	1	0	0	0	0	1	0	0	0	17521	933	33	4		4	UNC80	2	209912598	Missense_Mutation	SNP	G	C3L-00009_TP	2144848	209912598	32280931	75	1963											
ABCB6	0	.	GRCh38	chr2	219216446	219216446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagagagttccaaggtgcCttctcagtcagcaagttcac	10	9	10	12	0	3	1	3	0	1	1	5	2	4	1	3	1	2	3	3	1	2	3	rs759835717		C3L-00009_TP	C3L-00009_NB	C	C																c.888G>T	p.Lys296Asn	p.K296N	ENST00000265316	4/19	284	245	39	381	381	0	strelka-varscan-mutect	ABCB6,missense_variant,p.Lys296Asn,ENST00000265316,NM_005689.2;ABCB6,missense_variant,p.Lys144Asn,ENST00000295750,;ATG9A,downstream_gene_variant,,ENST00000409618,;ATG9A,downstream_gene_variant,,ENST00000396761,NM_024085.4;ATG9A,downstream_gene_variant,,ENST00000361242,NM_001077198.2;ATG9A,downstream_gene_variant,,ENST00000409422,;ATG9A,downstream_gene_variant,,ENST00000429920,;ATG9A,3_prime_UTR_variant,,ENST00000446716,;ABCB6,3_prime_UTR_variant,,ENST00000417678,;ABCB6,3_prime_UTR_variant,,ENST00000452545,;ABCB6,intron_variant,,ENST00000448398,;ATG9A,downstream_gene_variant,,ENST00000409033,;ABCB6,upstream_gene_variant,,ENST00000497882,;ATG9A,downstream_gene_variant,,ENST00000475339,;ABCB6,upstream_gene_variant,,ENST00000492543,;ABCB6,upstream_gene_variant,,ENST00000496984,;ABCB6,upstream_gene_variant,,ENST00000492953,;ABCB6,upstream_gene_variant,,ENST00000494639,;	A	ENST00000265316	Transcript	missense_variant	1205/3016	888/2529	296/842	K/N	aaG/aaT	rs759835717	1		-1	ABCB6	HGNC	HGNC:47	protein_coding	YES	CCDS2436.1	ENSP00000265316	Q9NP58		UPI000004C4BA	NM_005689.2	tolerated(0.5)		4/19		PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF18,hmmpanther:PTHR24221,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123																	MODERATE	1	SNV	1			1										PASS		rs759835717	.												A	3	1	6	219216446	219216446	C	A	1	0	0	0	0	1	0	0	0	49	680	24	2		2	ABCB6	2	219216446	Missense_Mutation	SNP	C	C3L-00009_TP	9303848	219216446	22977083	76	1964											
DOCK10	0	.	GRCh38	chr2	224876098	224876098	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggggcccctcaggactgaTttgcagaatgcggttgaggg	8	8	17	8	1	1	3	1	2	0	1	1	5	1	4	2	5	2	2	2	5	1	2	rs773654651		C3L-00009_TP	C3L-00009_NB	T	T																c.871A>G	p.Ile291Val	p.I291V	ENST00000258390	8/56	203	168	35	248	248	0	strelka-mutect	DOCK10,missense_variant,p.Ile285Val,ENST00000409592,NM_001290263.1;DOCK10,missense_variant,p.Ile291Val,ENST00000258390,NM_014689.2;DOCK10,non_coding_transcript_exon_variant,,ENST00000492369,;DOCK10,non_coding_transcript_exon_variant,,ENST00000543715,;	C	ENST00000258390	Transcript	missense_variant	939/7260	871/6561	291/2186	I/V	Atc/Gtc	rs773654651	1		-1	DOCK10	HGNC	HGNC:23479	protein_coding	YES	CCDS46528.1	ENSP00000258390	Q96BY6		UPI000021D2A7	NM_014689.2	tolerated(0.16)		8/56		Gene3D:2.30.29.30,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF71,SMART_domains:SM00233																	MODERATE	1	SNV	5			1										PASS		rs773654651	.												C	3	2	6	224876098	224876098	T	C	1	0	0	0	0	1	0	0	0	4500	1493	52	5		5	DOCK10	2	224876098	Missense_Mutation	SNP	T	C3L-00009_TP	5659652	224876098	17317431	77	1965											
DNER	0	.	GRCh38	chr2	229407292	229407292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctgtcacaggtggctcCgttcagacagctgacgttag	7	10	13	11	3	2	2	2	1	0	1	4	2	3	2	1	2	1	5	1	2	1	2			C3L-00009_TP	C3L-00009_NB	C	C																c.1663G>C	p.Gly555Arg	p.G555R	ENST00000341772	10/13	148	129	19	195	195	0	strelka-varscan-mutect	DNER,missense_variant,p.Gly555Arg,ENST00000341772,NM_139072.3;	G	ENST00000341772	Transcript	missense_variant	1798/3260	1663/2214	555/737	G/R	Gga/Cga	COSM720317	1		-1	DNER	HGNC	HGNC:24456	protein_coding	YES	CCDS33390.1	ENSP00000345229	Q8NFT8		UPI0000048EB8	NM_139072.3	tolerated(0.09)		10/13		PROSITE_profiles:PS50026,hmmpanther:PTHR24044:SF275,hmmpanther:PTHR24044,Gene3D:2.10.25.10,Pfam_domain:PF00008,SMART_domains:SM00181,Superfamily_domains:SSF57184											1						MODERATE	1	SNV	1		1	1										PASS		rs1360082276	.												G	3	3	6	229407292	229407292	C	G	1	0	0	0	0	1	0	0	0	4480	661	23	4		4	DNER	2	229407292	Missense_Mutation	SNP	C	C3L-00009_TP	4531194	229407292	12786237	78	1966											
AGXT	0	.	GRCh38	chr2	240878040	240878040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgctccggcttcccacaGtcaccactgtggctgtaccc	6	8	10	17	2	1	0	1	0	0	0	3	0	3	0	4	3	1	4	4	3	1	2	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.961G>T	p.Val321Phe	p.V321F	ENST00000307503	10/11	262	229	33	321	321	0	strelka-varscan-mutect	AGXT,missense_variant,p.Val321Phe,ENST00000307503,NM_000030.2;AGXT,non_coding_transcript_exon_variant,,ENST00000470255,;AGXT,downstream_gene_variant,,ENST00000472436,;AGXT,downstream_gene_variant,,ENST00000476698,;	T	ENST00000307503	Transcript	missense_variant	1348/1865	961/1179	321/392	V/F	Gtc/Ttc		1		1	AGXT	HGNC	HGNC:341	protein_coding	YES	CCDS2543.1	ENSP00000302620	P21549		UPI0000135E9B	NM_000030.2	deleterious(0)		10/11		Gene3D:3.90.1150.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF000524,hmmpanther:PTHR21152,hmmpanther:PTHR21152:SF22,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	240878040	240878040	G	T	1	0	0	0	0	1	0	0	0	483	1029	36	2		2	AGXT	2	240878040	Missense_Mutation	SNP	G	C3L-00009_TP	11470748	240878040	1315489	79	1967											
ATP2B2	0	.	GRCh38	chr3	10329026	10329026	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggaatcttcgatccGgaattcaggatgagccatga	10	9	14	8	2	2	2	1	2	1	0	4	6	3	5	2	4	1	1	2	4	2	2	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.3520C>G	p.Arg1174Gly	p.R1174G	ENST00000360273	23/23	238	204	34	357	357	0	strelka-varscan-mutect	ATP2B2,missense_variant,p.Arg1129Gly,ENST00000397077,;ATP2B2,missense_variant,p.Arg1174Gly,ENST00000360273,NM_001001331.2;ATP2B2,missense_variant,p.Arg1129Gly,ENST00000383800,NM_001683.3;ATP2B2,missense_variant,p.Arg1174Gly,ENST00000352432,;ATP2B2,missense_variant,p.Arg1030Gly,ENST00000452124,;MIR378B,upstream_gene_variant,,ENST00000578876,;ATP2B2,non_coding_transcript_exon_variant,,ENST00000467702,;ATP2B2,non_coding_transcript_exon_variant,,ENST00000468426,;ATP2B2,3_prime_UTR_variant,,ENST00000460129,;	C	ENST00000360273	Transcript	missense_variant	3959/8962	3520/3732	1174/1243	R/G	Cgg/Ggg		1		-1	ATP2B2	HGNC	HGNC:815	protein_coding	YES	CCDS33701.1	ENSP00000353414	Q01814	A0A024R2K6	UPI00001261EF	NM_001001331.2	tolerated_low_confidence(0.43)		23/23																			MODERATE	1	SNV	5			1										PASS		rs1453823607	.												C	3	2	6	10329026	10329026	G	C	1	0	0	0	0	1	0	0	0	1293	1115	39	4		4	ATP2B2	3	10329026	Missense_Mutation	SNP	G	C3L-00009_TP		10329026	187966533	80	1968											
RAF1	0	.	GRCh38	chr3	12604272	12604272	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgaaggcgtgaggtgtaGaatatctgtgctgagaacta	12	10	15	4	1	1	4	0	3	1	2	1	5	1	4	0	3	2	2	0	3	6	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.698C>G	p.Ser233Cys	p.S233C	ENST00000251849	7/17	349	283	66	518	518	0	strelka-varscan-mutect	RAF1,missense_variant,p.Ser233Cys,ENST00000251849,NM_002880.3;RAF1,missense_variant,p.Ser233Cys,ENST00000442415,;RAF1,missense_variant,p.Ser112Cys,ENST00000432427,;RAF1,3_prime_UTR_variant,,ENST00000423275,;RAF1,3_prime_UTR_variant,,ENST00000416093,;RAF1,non_coding_transcript_exon_variant,,ENST00000491290,;RAF1,upstream_gene_variant,,ENST00000465826,;RAF1,downstream_gene_variant,,ENST00000492690,;RAF1,upstream_gene_variant,,ENST00000460610,;	C	ENST00000251849	Transcript	missense_variant	1138/3300	698/1947	233/648	S/C	tCt/tGt		1		-1	RAF1	HGNC	HGNC:9829	protein_coding	YES	CCDS2612.1	ENSP00000251849	P04049	L7RRS6	UPI0000049CFC	NM_002880.3	deleterious(0.04)		7/17		hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF42																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	12604272	12604272	G	C	1	0	0	0	0	1	0	0	0	13163	942	33	4		4	RAF1	3	12604272	Missense_Mutation	SNP	G	C3L-00009_TP	2275246	12604272	185691287	81	1969											
DAZL	0	.	GRCh38	chr3	16605202	16605202	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggcctctccctcaactcaCcatgatggcggcaggcagca	8	6	11	16	2	3	1	2	1	1	0	4	1	3	1	3	4	2	3	3	4	1	0	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.3+1G>T		p.X1_splice	ENST00000399444		365	306	59	545	545	0	strelka-varscan-mutect	DAZL,splice_donor_variant,,ENST00000399444,NM_001351.3;DAZL,intron_variant,,ENST00000454457,;DAZL,upstream_gene_variant,,ENST00000250863,NM_001190811.1;	A	ENST00000399444	Transcript	splice_donor_variant	-/3050	3/888	1/295				1		-1	DAZL	HGNC	HGNC:2685	protein_coding		CCDS43059.1	ENSP00000382373	Q92904	A0A140VK77	UPI0000128EDB	NM_001351.3				1/10																		HIGH		SNV	1			1										PASS		.	.												A	5	1	6	16605202	16605202	C	A	1	0	0	0	0	0	0	1	0	4047	521	18	2		2	DAZL	3	16605202	Splice_Site	SNP	C	C3L-00009_TP	4000930	16605202	181690357	82	1970											
DNAH1	0	.	GRCh38	chr3	52347874	52347874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggtgctggacagctctgGggtgcactatagcaccccac	7	8	12	14	0	1	0	0	0	1	0	1	1	1	1	3	4	4	4	3	4	2	2	rs371417245		C3L-00009_TP	C3L-00009_NB	G	G																c.2006G>T	p.Gly669Val	p.G669V	ENST00000420323	12/78	116	88	28	178	178	0	strelka-varscan-mutect	DNAH1,missense_variant,p.Gly669Val,ENST00000420323,NM_015512.4;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000497875,;	T	ENST00000420323	Transcript	missense_variant	2267/13104	2006/12798	669/4265	G/V	gGg/gTg	rs371417245	1		1	DNAH1	HGNC	HGNC:2940	protein_coding	YES	CCDS46842.1	ENSP00000401514	Q9P2D7	A0A140VJI6	UPI00017EE9F6	NM_015512.4	deleterious(0.04)		12/78		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137																	MODERATE	1	SNV	1			1										PASS		rs371417245	.												T	3	4	6	52347874	52347874	G	T	1	0	0	0	0	1	0	0	0	4410	1232	43	2		2	DNAH1	3	52347874	Missense_Mutation	SNP	G	C3L-00009_TP	35742672	52347874	145947685	83	1971											
PBRM1	0	.	GRCh38	chr3	52662162	52662162	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgccctgattgtcttGcccatcttcatcatcatctt	6	16	5	14	0	6	1	3	1	3	0	6	1	6	1	2	0	2	0	2	0	0	4	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.499C>T	p.Gln167Ter	p.Q167*	ENST00000394830	5/30	196	152	44	199	199	0	strelka-varscan-mutect	PBRM1,stop_gained,p.Gln167Ter,ENST00000356770,;PBRM1,stop_gained,p.Gln167Ter,ENST00000296302,;PBRM1,stop_gained,p.Gln167Ter,ENST00000394830,NM_018313.4;PBRM1,stop_gained,p.Gln167Ter,ENST00000409114,;PBRM1,stop_gained,p.Gln167Ter,ENST00000409057,;PBRM1,stop_gained,p.Gln167Ter,ENST00000410007,;PBRM1,stop_gained,p.Gln167Ter,ENST00000409767,;PBRM1,stop_gained,p.Gln167Ter,ENST00000337303,;PBRM1,stop_gained,p.Gln167Ter,ENST00000423351,;PBRM1,stop_gained,p.Gln111Ter,ENST00000446103,;PBRM1,stop_gained,p.Gln167Ter,ENST00000431678,;PBRM1,downstream_gene_variant,,ENST00000420148,;PBRM1,stop_gained,p.Gln167Ter,ENST00000412587,;	A	ENST00000394830	Transcript	stop_gained	599/5071	499/4749	167/1582	Q/*	Caa/Taa		1		-1	PBRM1	HGNC	HGNC:30064	protein_coding	YES	CCDS43099.1	ENSP00000378307	Q86U86		UPI000013E31E	NM_018313.4			5/30		hmmpanther:PTHR16062,hmmpanther:PTHR16062:SF11,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	6	52662162	52662162	G	A	1	0	0	0	0	0	1	0	0	11578	1328	46	3		3	PBRM1	3	52662162	Nonsense_Mutation	SNP	G	C3L-00009_TP	314288	52662162	145633397	84	1972											
GABRR3	0	.	GRCh38	chr3	97986835	97986835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttatccgagatgaatCggtgctggggctgcatatcg	7	13	12	9	3	1	2	0	1	1	1	5	3	2	2	1	3	2	3	1	3	3	3	rs748321383		C3L-00009_TP	C3L-00009_NB	C	C																c.1252G>T	p.Asp418Tyr	p.D418Y	ENST00000621172	10/10	363	332	31	496	496	0	strelka-varscan-mutect	GABRR3,missense_variant,p.Asp418Tyr,ENST00000621172,NM_001105580.2;GABRR3,missense_variant,p.Asp418Tyr,ENST00000472788,;	A	ENST00000621172	Transcript	missense_variant	1369/1521	1252/1404	418/467	D/Y	Gat/Tat	rs748321383	1		-1	GABRR3	HGNC	HGNC:17969	protein_coding	YES	CCDS54617.1	ENSP00000481321	A8MPY1		UPI000003F558	NM_001105580.2	deleterious(0.01)		10/10		TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112																	MODERATE	1	SNV	5			1										PASS		rs748321383	.												A	3	1	6	97986835	97986835	C	A	1	0	0	0	0	1	0	0	0	6049	884	31	1		1	GABRR3	3	97986835	Missense_Mutation	SNP	C	C3L-00009_TP	45324673	97986835	100308724	85	1973											
KIAA1257	0	.	GRCh38	chr3	128987712	128987712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtctttagtgttccagaGcctcaaggtgattttgtgga	7	16	11	7	0	2	2	1	1	1	1	3	3	3	3	2	2	1	1	2	2	2	6	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.571C>T	p.Leu191Phe	p.L191F	ENST00000265068	4/8	261	225	36	325	325	0	strelka-varscan-mutect	KIAA1257,missense_variant,p.Leu191Phe,ENST00000265068,NM_020741.2;KIAA1257,missense_variant,p.Leu191Phe,ENST00000511438,;KIAA1257,missense_variant,p.Leu79Phe,ENST00000515659,;KIAA1257,non_coding_transcript_exon_variant,,ENST00000510149,;	A	ENST00000265068	Transcript	missense_variant	739/6034	571/1230	191/409	L/F	Ctc/Ttc		1		-1	KIAA1257	HGNC	HGNC:29231	protein_coding	YES	CCDS46905.1	ENSP00000265068	Q9ULG3		UPI00001C1DE3	NM_020741.2	deleterious(0.02)		4/8		hmmpanther:PTHR33667:SF1,hmmpanther:PTHR33667,Pfam_domain:PF15084																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	128987712	128987712	G	A	1	0	0	0	0	1	0	0	0	8110	971	34	3		3	KIAA1257	3	128987712	Missense_Mutation	SNP	G	C3L-00009_TP	31000877	128987712	69307847	86	1974											
ACAD11	0	.	GRCh38	chr3	132630435	132630435	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgtttaaaacaattaattAcctgtgctattccagccatc	13	13	4	11	1	0	0	0	0	0	0	2	0	1	0	3	0	4	2	3	0	6	6	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.963+2T>A		p.X321_splice	ENST00000264990		66	57	9	84	84	0	strelka-varscan-mutect	ACAD11,splice_donor_variant,,ENST00000264990,NM_032169.4;ACAD11,splice_donor_variant,,ENST00000481970,;ACAD11,downstream_gene_variant,,ENST00000489991,;NPHP3-ACAD11,splice_donor_variant,,ENST00000471702,;ACAD11,splice_donor_variant,,ENST00000496418,;ACAD11,splice_donor_variant,,ENST00000469042,;ACAD11,splice_donor_variant,,ENST00000485198,;ACAD11,upstream_gene_variant,,ENST00000487024,;	T	ENST00000264990	Transcript	splice_donor_variant	-/4142	963/2343	321/780				1		-1	ACAD11	HGNC	HGNC:30211	protein_coding	YES	CCDS3074.1	ENSP00000264990	Q709F0		UPI0000223E4E	NM_032169.4				7/19																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	6	132630435	132630435	A	T	1	0	0	0	0	0	0	1	0	152	405	14	4		4	ACAD11	3	132630435	Splice_Site	SNP	A	C3L-00009_TP	3642723	132630435	65665124	87	1975											
SPATA16	0	.	GRCh38	chr3	173019513	173019513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgaatacctctccagaCatctaaacactgttgcttga	11	12	5	13	0	3	3	0	2	3	1	4	3	3	3	3	0	3	2	3	0	4	4	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.821G>A	p.Cys274Tyr	p.C274Y	ENST00000351008	4/11	431	384	47	484	483	1	strelka-varscan-mutect	SPATA16,missense_variant,p.Cys274Tyr,ENST00000351008,NM_031955.5;	T	ENST00000351008	Transcript	missense_variant	1005/2106	821/1710	274/569	C/Y	tGt/tAt		1		-1	SPATA16	HGNC	HGNC:29935	protein_coding	YES	CCDS3221.1	ENSP00000341765	Q9BXB7	A0A140VJV8	UPI000013D9BF	NM_031955.5	tolerated(0.33)		4/11		Gene3D:1.25.40.10,Pfam_domain:PF15015,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF336,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	173019513	173019513	C	T	1	0	0	0	0	1	0	0	0	15331	478	17	3		3	SPATA16	3	173019513	Missense_Mutation	SNP	C	C3L-00009_TP	40389078	173019513	25276046	88	1976											
NLGN1	0	.	GRCh38	chr3	174279179	174279179	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgaaccaaggggaagggtTaaaatttgttgaaaatatag	17	10	12	2	0	0	2	0	2	0	0	0	3	0	3	1	3	1	2	1	3	9	5	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.1178T>A	p.Leu393Ter	p.L393*	ENST00000457714	6/7	164	130	34	183	183	0	strelka-varscan-mutect	NLGN1,stop_gained,p.Leu393Ter,ENST00000457714,NM_014932.3;NLGN1,stop_gained,p.Leu393Ter,ENST00000361589,;NLGN1,stop_gained,p.Leu178Ter,ENST00000401917,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,non_coding_transcript_exon_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;NLGN1,downstream_gene_variant,,ENST00000469564,;NLGN1,downstream_gene_variant,,ENST00000490929,;	A	ENST00000457714	Transcript	stop_gained	1607/8242	1178/2472	393/823	L/*	tTa/tAa		1		1	NLGN1	HGNC	HGNC:14291	protein_coding	YES	CCDS3222.1	ENSP00000392500	Q8N2Q7		UPI0000072F54	NM_014932.3			6/7		hmmpanther:PTHR11559:SF52,hmmpanther:PTHR11559,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	6	174279179	174279179	T	A	1	0	0	0	0	0	1	0	0	10498	1764	61	4		4	NLGN1	3	174279179	Nonsense_Mutation	SNP	T	C3L-00009_TP	1259666	174279179	24016380	89	1977											
HTR3D	0	.	GRCh38	chr3	184032917	184032917	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatggcgacactttgattatCaattgcccaggctttggcca	10	12	9	10	1	1	1	1	1	0	0	1	2	1	1	2	3	1	1	2	3	3	4	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.87C>T	p.=	p.I29I	ENST00000382489	1/8	322	261	61	349	349	0	strelka-varscan-mutect	HTR3D,synonymous_variant,p.=,ENST00000382489,NM_001163646.1;HTR3D,intron_variant,,ENST00000334128,NM_182537.2;HTR3D,intron_variant,,ENST00000428798,NM_001145143.1;HTR3D,upstream_gene_variant,,ENST00000453435,;	T	ENST00000382489	Transcript	synonymous_variant	87/1674	87/1365	29/454	I	atC/atT		1		1	HTR3D	HGNC	HGNC:24004	protein_coding	YES	CCDS54685.1	ENSP00000371929	Q70Z44		UPI000024209D	NM_001163646.1			1/8		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF409																	LOW	1	SNV	1			1										PASS		rs926622209	.												T	2	4	6	184032917	184032917	C	T	1	0	0	0	0	0	0	0	1	7343	816	29	3		3	HTR3D	3	184032917	Silent	SNP	C	C3L-00009_TP	9753738	184032917	14262642	90	1978											
EIF4G1	0	.	GRCh38	chr3	184323594	184323594	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgatggcagcaaaacccagGtactggcaagtcctgctttt	10	10	10	11	0	0	1	0	1	0	0	1	1	1	1	2	3	4	5	2	3	4	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.2295+1G>T		p.X765_splice	ENST00000424196		437	332	105	518	518	0	strelka-varscan-mutect	EIF4G1,splice_donor_variant,,ENST00000342981,NM_182917.4;EIF4G1,splice_donor_variant,,ENST00000424196,;EIF4G1,splice_donor_variant,,ENST00000414031,NM_001291157.1;EIF4G1,splice_donor_variant,,ENST00000346169,NM_198241.2;EIF4G1,splice_donor_variant,,ENST00000352767,NM_001194947.1;EIF4G1,splice_donor_variant,,ENST00000392537,NM_198244.2;EIF4G1,splice_donor_variant,,ENST00000382330,NM_001194946.1;EIF4G1,splice_donor_variant,,ENST00000427845,;EIF4G1,splice_donor_variant,,ENST00000434061,NM_004953.4;EIF4G1,splice_donor_variant,,ENST00000350481,NM_198242.2;EIF4G1,splice_donor_variant,,ENST00000411531,;EIF4G1,splice_donor_variant,,ENST00000435046,;EIF4G1,splice_donor_variant,,ENST00000441154,;EIF4G1,splice_donor_variant,,ENST00000426123,;EIF4G1,splice_donor_variant,,ENST00000421110,;EIF4G1,splice_donor_variant,,ENST00000450424,;EIF4G1,splice_donor_variant,,ENST00000444861,;EIF4G1,downstream_gene_variant,,ENST00000457456,;EIF4G1,downstream_gene_variant,,ENST00000427141,;EIF4G1,downstream_gene_variant,,ENST00000456033,;EIF4G1,upstream_gene_variant,,ENST00000448284,;EIF4G1,downstream_gene_variant,,ENST00000427607,;EIF4G1,downstream_gene_variant,,ENST00000440448,;EIF4G1,downstream_gene_variant,,ENST00000444134,;EIF4G1,downstream_gene_variant,,ENST00000428387,;SNORD66,upstream_gene_variant,,ENST00000390856,;EIF4G1,splice_donor_variant,,ENST00000442406,;EIF4G1,splice_donor_variant,,ENST00000413967,;EIF4G1,upstream_gene_variant,,ENST00000460829,;EIF4G1,upstream_gene_variant,,ENST00000422614,;EIF4G1,downstream_gene_variant,,ENST00000484862,;EIF4G1,upstream_gene_variant,,ENST00000466311,;EIF4G1,downstream_gene_variant,,ENST00000493299,;EIF4G1,upstream_gene_variant,,ENST00000482303,;	T	ENST00000424196	Transcript	splice_donor_variant	-/5653	2295/4821	765/1606				1		1	EIF4G1	HGNC	HGNC:3296	protein_coding	YES	CCDS54687.1	ENSP00000416255	Q04637		UPI00015E0966					14/31																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	6	184323594	184323594	G	T	1	0	0	0	0	0	0	1	0	4870	1275	44	2		2	EIF4G1	3	184323594	Splice_Site	SNP	G	C3L-00009_TP	290677	184323594	13971965	91	1979											
MUC4	0	.	GRCh38	chr3	195784231	195784231	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggaagtgctggtgacaGgaagaggggtggcatgacct	10	7	18	6	0	0	4	0	3	0	1	0	6	0	6	1	6	1	2	1	6	2	0	rs200212097		C3L-00009_TP	C3L-00009_NB	G	G																c.7349C>G	p.Pro2450Arg	p.P2450R	ENST00000463781	2/25	920	824	96	1002	1001	1	varscan-mutect	MUC4,missense_variant,p.Pro2450Arg,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2450Arg,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2450Arg,ENST00000478156,;MUC4,missense_variant,p.Pro2450Arg,ENST00000466475,;MUC4,missense_variant,p.Pro2450Arg,ENST00000477756,;MUC4,missense_variant,p.Pro2450Arg,ENST00000477086,;MUC4,missense_variant,p.Pro2450Arg,ENST00000480843,;MUC4,missense_variant,p.Pro2450Arg,ENST00000462323,;MUC4,missense_variant,p.Pro2450Arg,ENST00000470451,;MUC4,missense_variant,p.Pro2450Arg,ENST00000479406,;	C	ENST00000463781	Transcript	missense_variant	7809/17110	7349/16239	2450/5412	P/R	cCt/cGt	rs200212097	1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	tolerated_low_confidence(0.87)		2/25												uncertain_significance							MODERATE	1	SNV	5		1	1										PASS		rs200212097	.												C	3	2	6	195784231	195784231	G	C	1	0	0	0	0	1	0	0	0	9977	1000	35	4		4	MUC4	3	195784231	Missense_Mutation	SNP	G	C3L-00009_TP	11460637	195784231	2511328	92	1980											
MUC4	0	.	GRCh38	chr3	195786878	195786878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggctggtgacaggaagagGggtggtgtgacctgtggata	9	8	20	4	0	0	3	0	2	0	1	0	5	0	5	1	7	0	1	1	7	2	1	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.4702C>A	p.Pro1568Thr	p.P1568T	ENST00000463781	2/25	759	684	75	918	917	1	varscan-mutect	MUC4,missense_variant,p.Pro1568Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro1568Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro1568Thr,ENST00000478156,;MUC4,missense_variant,p.Pro1568Thr,ENST00000466475,;MUC4,missense_variant,p.Pro1568Thr,ENST00000477756,;MUC4,missense_variant,p.Pro1568Thr,ENST00000477086,;MUC4,missense_variant,p.Pro1568Thr,ENST00000480843,;MUC4,missense_variant,p.Pro1568Thr,ENST00000462323,;MUC4,missense_variant,p.Pro1568Thr,ENST00000470451,;MUC4,missense_variant,p.Pro1568Thr,ENST00000479406,;	T	ENST00000463781	Transcript	missense_variant	5162/17110	4702/16239	1568/5412	P/T	Cct/Act		1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	deleterious_low_confidence(0)		2/25																			MODERATE	1	SNV	5			1										PASS		rs1451574334	.												T	3	4	6	195786878	195786878	G	T	1	0	0	0	0	1	0	0	0	9977	1232	43	2		2	MUC4	3	195786878	Missense_Mutation	SNP	G	C3L-00009_TP	2647	195786878	2508681	93	1981											
IQCG	0	.	GRCh38	chr3	197889716	197889716	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccaccaggcctggagcTggaagagaaaaggggagtga	12	4	16	9	1	0	2	0	1	0	1	1	6	0	5	3	5	1	1	3	5	3	0	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.1198-2A>G		p.X400_splice	ENST00000265239		167	126	41	177	177	0	strelka-varscan-mutect	IQCG,splice_acceptor_variant,,ENST00000265239,NM_001323029.1,NM_032263.3;IQCG,splice_acceptor_variant,,ENST00000455191,NM_001134435.2;LRCH3,downstream_gene_variant,,ENST00000438796,;RNU6-858P,upstream_gene_variant,,ENST00000362436,;IQCG,splice_acceptor_variant,,ENST00000485787,;IQCG,splice_acceptor_variant,,ENST00000490748,;IQCG,splice_acceptor_variant,,ENST00000478903,;	C	ENST00000265239	Transcript	splice_acceptor_variant	-/2262	1198/1332	400/443				1		-1	IQCG	HGNC	HGNC:25251	protein_coding	YES	CCDS3331.1	ENSP00000265239	Q9H095		UPI0000037D68	NM_001323029.1,NM_032263.3				11/11																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	6	197889716	197889716	T	C	1	0	0	0	0	0	0	1	0	7716	1594	55	5		5	IQCG	3	197889716	Splice_Site	SNP	T	C3L-00009_TP	2102838	197889716	405843	94	1982											
IQCG	0	.	GRCh38	chr3	197943780	197943780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgagtgggtctataccaCgcagatgctctgtctccctt	6	13	11	11	1	3	2	0	1	3	1	4	2	3	2	2	2	2	2	2	2	2	3	rs146833269		C3L-00009_TP	C3L-00009_NB	C	C																c.280G>A	p.Val94Met	p.V94M	ENST00000265239	4/12	163	115	48	210	210	0	strelka-varscan-mutect	IQCG,missense_variant,p.Val94Met,ENST00000265239,NM_001323029.1,NM_032263.3;IQCG,missense_variant,p.Val94Met,ENST00000455191,NM_001134435.2;IQCG,missense_variant,p.Val94Met,ENST00000453254,NM_001323030.1;IQCG,missense_variant,p.Val75Met,ENST00000416896,;IQCG,downstream_gene_variant,,ENST00000452735,;IQCG,splice_region_variant,,ENST00000480302,;IQCG,non_coding_transcript_exon_variant,,ENST00000463651,;IQCG,upstream_gene_variant,,ENST00000490748,;	T	ENST00000265239	Transcript	missense_variant,splice_region_variant	705/2262	280/1332	94/443	V/M	Gtg/Atg	rs146833269,COSM236140	1		-1	IQCG	HGNC	HGNC:25251	protein_coding	YES	CCDS3331.1	ENSP00000265239	Q9H095		UPI0000037D68	NM_001323029.1,NM_032263.3	tolerated(0.56)		4/12		hmmpanther:PTHR14871:SF1,hmmpanther:PTHR14871											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs146833269	.												T	3	4	6	197943780	197943780	C	T	1	0	0	0	0	1	0	0	0	7716	550	19	1		1	IQCG	3	197943780	Missense_Mutation	SNP	C	C3L-00009_TP	54064	197943780	351779	95	1983											
LMLN	0	.	GRCh38	chr3	197960268	197960268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcggccgaatggggcggagGagtgggttactcgggctcag	6	6	21	8	4	1	0	1	0	0	0	2	3	1	2	1	8	1	2	1	8	2	1	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.47G>A	p.Gly16Glu	p.G16E	ENST00000420910	1/17	137	129	8	170	170	0	strelka-varscan-mutect	LMLN,missense_variant,p.Gly16Glu,ENST00000330198,NM_033029.3;LMLN,missense_variant,p.Gly16Glu,ENST00000420910,NM_001136049.2;LMLN,synonymous_variant,p.=,ENST00000482695,;LMLN,synonymous_variant,p.=,ENST00000332636,;LMLN,intron_variant,,ENST00000419117,;IQCG,upstream_gene_variant,,ENST00000265239,NM_001323029.1,NM_032263.3;RPL35A,downstream_gene_variant,,ENST00000464167,;IQCG,upstream_gene_variant,,ENST00000416896,;RPL35A,downstream_gene_variant,,ENST00000448864,NM_001316311.1,NM_000996.2;IQCG,upstream_gene_variant,,ENST00000480302,;LMLN,non_coding_transcript_exon_variant,,ENST00000451139,;IQCG,upstream_gene_variant,,ENST00000493624,;RPL35A,downstream_gene_variant,,ENST00000474640,;RPL35A,downstream_gene_variant,,ENST00000439255,;RPL35A,downstream_gene_variant,,ENST00000429437,;	A	ENST00000420910	Transcript	missense_variant	47/2423	47/2079	16/692	G/E	gGa/gAa		1		1	LMLN	HGNC	HGNC:15991	protein_coding	YES	CCDS46988.1	ENSP00000410926	Q96KR4		UPI000192C367	NM_001136049.2	tolerated_low_confidence(0.49)		1/17		Low_complexity_(Seg):seg,hmmpanther:PTHR10942,hmmpanther:PTHR10942:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	197960268	197960268	G	A	1	0	0	0	0	1	0	0	0	8771	1174	41	3		3	LMLN	3	197960268	Missense_Mutation	SNP	G	C3L-00009_TP	16488	197960268	335291	96	1984											
PDE6B	0	.	GRCh38	chr4	625978	625978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgtgcagccggacagcGtcctggaggactgcctggtg	6	7	16	12	3	1	0	1	0	0	0	2	3	2	3	3	4	5	1	3	4	0	0	rs201253138		C3L-00009_TP	C3L-00009_NB	G	G																c.352G>A	p.Val118Ile	p.V118I	ENST00000496514	1/22	70	56	14	95	95	0	strelka-varscan-mutect	PDE6B,missense_variant,p.Val118Ile,ENST00000255622,NM_001145291.1;PDE6B,missense_variant,p.Val118Ile,ENST00000496514,NM_000283.3;	A	ENST00000496514	Transcript	missense_variant	373/3232	352/2565	118/854	V/I	Gtc/Atc	rs201253138,COSM3409389	1		1	PDE6B	HGNC	HGNC:8786	protein_coding	YES	CCDS33932.1	ENSP00000420295	P35913		UPI0000DBEE72	NM_000283.3	tolerated(0.17)		1/22		Gene3D:3.30.450.40,Pfam_domain:PF01590,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF73,SMART_domains:SM00065,Superfamily_domains:SSF55781											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201253138	.												A	3	1	6	625978	625978	G	A	1	0	0	0	0	1	0	0	0	11734	1145	40	1		1	PDE6B	4	625978	Missense_Mutation	SNP	G	C3L-00009_TP		625978	189588577	97	1985											
ZFYVE28	0	.	GRCh38	chr4	2305124	2305124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctgccgtcccctccaCgtcatccatgaagaacacgc	8	8	8	17	3	2	2	1	1	1	1	5	2	5	2	5	1	2	1	5	1	2	1	rs779341433		C3L-00009_TP	C3L-00009_NB	C	C																c.1216G>T	p.Val406Leu	p.V406L	ENST00000290974	8/13	46	29	17	70	70	0	strelka-varscan-mutect	ZFYVE28,missense_variant,p.Val406Leu,ENST00000290974,NM_020972.2;ZFYVE28,missense_variant,p.Val376Leu,ENST00000511071,NM_001172656.1;ZFYVE28,missense_variant,p.Val336Leu,ENST00000515312,NM_001172659.1;RP11-478C1.7,intron_variant,,ENST00000510632,;	A	ENST00000290974	Transcript	missense_variant	1556/4131	1216/2664	406/887	V/L	Gtg/Ttg	rs779341433,COSM4742759	1		-1	ZFYVE28	HGNC	HGNC:29334	protein_coding	YES	CCDS33942.1	ENSP00000290974	Q9HCC9		UPI00001C1E08	NM_020972.2	tolerated_low_confidence(0.64)		8/13		hmmpanther:PTHR22835:SF41,hmmpanther:PTHR22835											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs779341433	.												A	3	1	6	2305124	2305124	C	A	1	0	0	0	0	1	0	0	0	18247	536	19	1		1	ZFYVE28	4	2305124	Missense_Mutation	SNP	C	C3L-00009_TP	1679146	2305124	187909431	98	1986											
JAKMIP1	0	.	GRCh38	chr4	6036059	6036059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcaccggccctccgccccgGctcctgctgcagcgctgtgt	2	8	11	20	4	1	0	1	0	0	0	3	0	3	0	6	2	3	4	6	2	0	0	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.2224C>T	p.Pro742Ser	p.P742S	ENST00000409021	19/21	197	184	13	264	263	1	strelka-varscan-mutect	JAKMIP1,missense_variant,p.Pro742Ser,ENST00000409021,NM_001099433.1;JAKMIP1,missense_variant,p.Pro557Ser,ENST00000409371,;JAKMIP1,missense_variant,p.Pro310Ser,ENST00000637373,;	A	ENST00000409021	Transcript	missense_variant	2674/2975	2224/2496	742/831	P/S	Ccg/Tcg		1		-1	JAKMIP1	HGNC	HGNC:26460	protein_coding	YES	CCDS47005.1	ENSP00000386711	Q96N16		UPI00015734C1	NM_001099433.1	tolerated(0.34)		19/21		hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	6036059	6036059	G	A	1	0	0	0	0	1	0	0	0	7853	1203	42	3		3	JAKMIP1	4	6036059	Missense_Mutation	SNP	G	C3L-00009_TP	3730935	6036059	184178496	99	1987											
ZNF518B	0	.	GRCh38	chr4	10445067	10445067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttctgaactgaaggttgaAaactatcaatgcctacgagt	13	12	9	7	1	2	3	1	3	1	0	2	4	2	3	1	1	4	2	1	1	7	4	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.1262T>C	p.Phe421Ser	p.F421S	ENST00000326756	3/3	151	141	10	184	184	0	strelka-varscan-mutect	ZNF518B,missense_variant,p.Phe421Ser,ENST00000326756,NM_053042.2;ZNF518B,downstream_gene_variant,,ENST00000507515,;	G	ENST00000326756	Transcript	missense_variant	1701/6894	1262/3225	421/1074	F/S	tTt/tCt		1		-1	ZNF518B	HGNC	HGNC:29365	protein_coding	YES	CCDS33960.1	ENSP00000317614	Q9C0D4		UPI0000160B97	NM_053042.2	deleterious(0)		3/3																			MODERATE	1	SNV	3			1										PASS		.	.												G	3	3	6	10445067	10445067	A	G	1	0	0	0	0	1	0	0	0	18535	14	1	5		5	ZNF518B	4	10445067	Missense_Mutation	SNP	A	C3L-00009_TP	4409008	10445067	179769488	100	1988											
AASDH	0	.	GRCh38	chr4	56353409	56353409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttaaattactttaccgtggGatgtaaatggtagagagtcg	12	14	11	4	2	0	1	0	0	0	1	1	3	0	2	1	2	2	2	1	2	7	7	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1571C>A	p.Ser524Tyr	p.S524Y	ENST00000205214	9/15	89	81	8	98	98	0	strelka-varscan-mutect	AASDH,missense_variant,p.Ser524Tyr,ENST00000205214,NM_181806.3;AASDH,missense_variant,p.Ser371Tyr,ENST00000602986,NM_001286669.1;AASDH,missense_variant,p.Ser424Tyr,ENST00000513376,NM_001286668.1;AASDH,missense_variant,p.Ser524Tyr,ENST00000451613,NM_001286671.1;AASDH,missense_variant,p.Ser524Tyr,ENST00000502617,NM_001286672.1;AASDH,downstream_gene_variant,,ENST00000510762,;AASDH,3_prime_UTR_variant,,ENST00000514745,NM_001286670.1;AASDH,3_prime_UTR_variant,,ENST00000503808,;RPL7AP31,upstream_gene_variant,,ENST00000470544,;	T	ENST00000205214	Transcript	missense_variant	1752/3590	1571/3297	524/1098	S/Y	tCc/tAc		1		-1	AASDH	HGNC	HGNC:23993	protein_coding	YES	CCDS3504.1	ENSP00000205214	Q4L235		UPI000020B8EF	NM_181806.3	tolerated(0.08)		9/15		hmmpanther:PTHR24095:SF185,hmmpanther:PTHR24095,Gene3D:3.30.300.30,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	56353409	56353409	G	T	1	0	0	0	0	1	0	0	0	26	1188	41	2		2	AASDH	4	56353409	Missense_Mutation	SNP	G	C3L-00009_TP	45908342	56353409	133861146	101	1989											
EPHA5	0	.	GRCh38	chr4	65404455	65404455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaattacaggaatctggCtttgatcgctggatgctgca	10	11	11	9	1	1	1	0	1	1	0	2	3	1	3	0	3	4	5	0	3	3	2			C3L-00009_TP	C3L-00009_NB	C	C																c.1712G>T	p.Ser571Ile	p.S571I	ENST00000622150	8/18	157	135	22	227	227	0	strelka-varscan-mutect	EPHA5,missense_variant,p.Ser571Ile,ENST00000622150,NM_001281765.1;EPHA5,missense_variant,p.Ser571Ile,ENST00000613740,NM_001281766.1;EPHA5,missense_variant,p.Ser570Ile,ENST00000273854,NM_004439.6;EPHA5,missense_variant,p.Ser571Ile,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Ser407Ile,ENST00000432638,;EPHA5,missense_variant,p.Ser570Ile,ENST00000354839,NM_182472.3;	A	ENST00000622150	Transcript	missense_variant	2465/8421	1712/3117	571/1038	S/I	aGc/aTc	COSM4530565	1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1	tolerated(0.09)		8/18		PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	6	65404455	65404455	C	A	1	0	0	0	0	1	0	0	0	5017	797	28	2		2	EPHA5	4	65404455	Missense_Mutation	SNP	C	C3L-00009_TP	9051046	65404455	124810100	102	1990											
ANKRD17	0	.	GRCh38	chr4	73092288	73092288	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagttgcttgtcttgttgaTtcagtgccacccctataaat	8	16	8	9	0	2	2	1	2	1	0	2	2	2	2	3	0	2	3	3	0	3	7	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.5340A>G	p.=	p.E1780E	ENST00000358602	29/34	135	100	35	167	167	0	strelka-varscan-mutect	ANKRD17,synonymous_variant,p.=,ENST00000358602,NM_015574.1,NM_032217.3;ANKRD17,synonymous_variant,p.=,ENST00000558247,;ANKRD17,synonymous_variant,p.=,ENST00000509867,NM_001286771.1;ANKRD17,synonymous_variant,p.=,ENST00000330838,NM_198889.1;	C	ENST00000358602	Transcript	synonymous_variant	5457/10784	5340/7812	1780/2603	E	gaA/gaG		1		-1	ANKRD17	HGNC	HGNC:23575	protein_coding	YES	CCDS34004.1	ENSP00000351416	O75179		UPI00002263B0	NM_015574.1,NM_032217.3			29/34		PROSITE_profiles:PS50084,hmmpanther:PTHR23206,hmmpanther:PTHR23206:SF1,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	6	73092288	73092288	T	C	1	0	0	0	0	0	0	0	1	747	1490	52	5		5	ANKRD17	4	73092288	Silent	SNP	T	C3L-00009_TP	7687833	73092288	117122267	103	1991											
GK2	0	.	GRCh38	chr4	79407786	79407786	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggaaggcctgtcttagActtgacgaagttactatttc	10	13	11	7	1	1	2	0	1	1	1	2	5	1	3	1	2	1	1	1	2	5	5	rs777425846		C3L-00009_TP	C3L-00009_NB	A	A																c.415T>C	p.Ser139Pro	p.S139P	ENST00000358842	1/1	198	147	51	292	292	0	strelka-varscan-mutect	GK2,missense_variant,p.Ser139Pro,ENST00000358842,NM_033214.2;	G	ENST00000358842	Transcript	missense_variant	508/1942	415/1662	139/553	S/P	Tct/Cct	rs777425846	1		-1	GK2	HGNC	HGNC:4291	protein_coding	YES	CCDS3585.1	ENSP00000351706	Q14410	A0A140VKG0	UPI000011E629	NM_033214.2	tolerated(0.95)		1/1		hmmpanther:PTHR10196:SF46,hmmpanther:PTHR10196,TIGRFAM_domain:TIGR01311,Pfam_domain:PF00370,Gene3D:3.30.420.40,PIRSF_domain:PIRSF000538,Superfamily_domains:SSF53067																	MODERATE	1	SNV				1										PASS		rs777425846	.												G	3	3	6	79407786	79407786	A	G	1	0	0	0	0	1	0	0	0	6299	275	10	5		5	GK2	4	79407786	Missense_Mutation	SNP	A	C3L-00009_TP	6315498	79407786	110806769	104	1992											
TIGD2	0	.	GRCh38	chr4	89113239	89113239	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgatagagtggtttaacCaacagaaaacagatgggatt	16	11	10	4	0	0	4	0	1	0	3	0	5	0	5	1	2	3	1	1	2	6	5	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.265C>T	p.Gln89Ter	p.Q89*	ENST00000603357	2/2	254	208	46	383	383	0	strelka-varscan-mutect	TIGD2,stop_gained,p.Gln89Ter,ENST00000603357,;TIGD2,stop_gained,p.Gln89Ter,ENST00000317005,NM_145715.2;FAM13A,upstream_gene_variant,,ENST00000502459,;	T	ENST00000603357	Transcript	stop_gained	1557/3217	265/1578	89/525	Q/*	Caa/Taa		1		1	TIGD2	HGNC	HGNC:18333	protein_coding	YES	CCDS3633.1	ENSP00000486687	Q4W5G0	V9HWD1	UPI000013FF3C				2/2		PROSITE_profiles:PS51253,hmmpanther:PTHR19303:SF220,hmmpanther:PTHR19303,Pfam_domain:PF03221,Gene3D:1.10.10.60,SMART_domains:SM00674,Superfamily_domains:SSF46689																	HIGH	1	SNV	4			1										PASS		.	.												T	4	4	6	89113239	89113239	C	T	1	0	0	0	0	0	1	0	0	16334	595	21	3		3	TIGD2	4	89113239	Nonsense_Mutation	SNP	C	C3L-00009_TP	9705453	89113239	101101316	105	1993											
SMARCAD1	0	.	GRCh38	chr4	94208473	94208473	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcccgaagcaacccctcaaCcttcccagcctggcccttct	7	7	6	21	2	2	0	1	0	1	0	3	1	3	0	7	1	4	1	7	1	3	2	rs748529019		C3L-00009_TP	C3L-00009_NB	C	C																c.79C>A	p.Pro27Thr	p.P27T	ENST00000359052	2/24	345	281	64	522	521	1	strelka-varscan-mutect	SMARCAD1,missense_variant,p.Pro27Thr,ENST00000359052,NM_001128430.1;SMARCAD1,missense_variant,p.Pro27Thr,ENST00000354268,NM_020159.4;SMARCAD1,missense_variant,p.Pro27Thr,ENST00000457823,NM_001128429.2;RP11-363G15.2,upstream_gene_variant,,ENST00000501965,;SMARCAD1,missense_variant,p.Pro27Thr,ENST00000394961,;SMARCAD1,missense_variant,p.Pro27Thr,ENST00000510105,;	A	ENST00000359052	Transcript	missense_variant	253/5017	79/3087	27/1028	P/T	Cct/Act	rs748529019	1		1	SMARCAD1	HGNC	HGNC:18398	protein_coding	YES	CCDS47101.1	ENSP00000351947	Q9H4L7		UPI000020B1CF	NM_001128430.1	tolerated_low_confidence(0.17)		2/24		Low_complexity_(Seg):seg,hmmpanther:PTHR10799																	MODERATE	1	SNV	1			1										PASS		rs748529019	.												A	3	1	6	94208473	94208473	C	A	1	0	0	0	0	1	0	0	0	15065	507	18	2		2	SMARCAD1	4	94208473	Missense_Mutation	SNP	C	C3L-00009_TP	5095234	94208473	96006082	106	1994											
NPY5R	0	.	GRCh38	chr4	163351002	163351002	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtataagctgtggattgtcCaacaaagaaaacagacttga	17	9	9	6	0	0	3	0	1	0	2	1	4	1	4	1	1	3	2	1	1	6	4	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.729C>A	p.=	p.S243S	ENST00000515560	4/4	141	93	48	217	216	1	strelka-varscan-mutect	NPY5R,synonymous_variant,p.=,ENST00000515560,NM_001317091.1;NPY5R,synonymous_variant,p.=,ENST00000338566,NM_006174.2;NPY5R,synonymous_variant,p.=,ENST00000506953,;	A	ENST00000515560	Transcript	synonymous_variant	2251/3183	729/1338	243/445	S	tcC/tcA		1		1	NPY5R	HGNC	HGNC:7958	protein_coding	YES	CCDS3804.1	ENSP00000423917	Q15761		UPI000000D9D7	NM_001317091.1			4/4		PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF217,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	6	163351002	163351002	C	A	1	0	0	0	0	0	0	0	1	10666	581	21	2		2	NPY5R	4	163351002	Silent	SNP	C	C3L-00009_TP	69142529	163351002	26863553	107	1995											
TENM3	0	.	GRCh38	chr4	182324163	182324163	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttccagcgagacattgaAagcttttgatcatgattcct	11	13	8	9	1	1	4	1	3	0	1	3	5	3	4	2	0	2	2	2	0	1	5	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.143A>T	p.Lys48Ile	p.K48I	ENST00000511685	2/28	530	490	40	809	809	0	strelka-varscan-mutect	TENM3,missense_variant,p.Lys48Ile,ENST00000511685,NM_001080477.2;TENM3,missense_variant,p.Lys48Ile,ENST00000512480,;TENM3,non_coding_transcript_exon_variant,,ENST00000513201,;	T	ENST00000511685	Transcript	missense_variant	266/10896	143/8100	48/2699	K/I	aAa/aTa		1		1	TENM3	HGNC	HGNC:29944	protein_coding	YES	CCDS47165.1	ENSP00000424226	Q9P273	A0A140VJW8	UPI00006C0820	NM_001080477.2	deleterious_low_confidence(0.01)		2/28		Pfam_domain:PF06484,PROSITE_profiles:PS51361,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	6	182324163	182324163	A	T	1	0	0	0	0	1	0	0	0	16173	14	1	4		4	TENM3	4	182324163	Missense_Mutation	SNP	A	C3L-00009_TP	18973161	182324163	7890392	108	1996											
SEMA5A	0	.	GRCh38	chr5	9154612	9154612	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggctccctccgcctctCagggaagagctcaatctctt	7	10	10	14	1	3	1	2	0	2	1	7	3	5	2	3	2	1	2	3	2	2	1			C3L-00009_TP	C3L-00009_NB	C	C																c.1357G>T	p.Glu453Ter	p.E453*	ENST00000382496	12/23	466	363	103	545	545	0	strelka-varscan-mutect	SEMA5A,stop_gained,p.Glu453Ter,ENST00000382496,NM_003966.2;	A	ENST00000382496	Transcript	stop_gained	2023/11762	1357/3225	453/1074	E/*	Gag/Tag	COSM345780	1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2			12/23		PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF78,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	6	9154612	9154612	C	A	1	0	0	0	0	0	1	0	0	14313	835	29	2		2	SEMA5A	5	9154612	Nonsense_Mutation	SNP	C	C3L-00009_TP		9154612	172383647	109	1997											
CDH18	0	.	GRCh38	chr5	19473400	19473400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcataagtctgaagagaGtcataagggggaacgctagg	14	7	15	5	1	2	2	1	1	1	1	2	4	2	3	0	4	1	2	0	4	6	4			C3L-00009_TP	C3L-00009_NB	G	G																c.2199C>A	p.Asp733Glu	p.D733E	ENST00000507958	15/15	445	356	89	479	479	0	strelka-varscan-mutect	CDH18,missense_variant,p.Asp733Glu,ENST00000507958,NM_001291956.1;CDH18,missense_variant,p.Asp733Glu,ENST00000382275,NM_004934.3;CDH18,missense_variant,p.Asp733Glu,ENST00000274170,;CDH18,downstream_gene_variant,,ENST00000506372,NM_001291957.1;CDH18,downstream_gene_variant,,ENST00000502796,NM_001167667.1;CDH18,downstream_gene_variant,,ENST00000515257,;CDH18,non_coding_transcript_exon_variant,,ENST00000510297,;	T	ENST00000507958	Transcript	missense_variant	3190/3542	2199/2373	733/790	D/E	gaC/gaA	COSM5403265,COSM5403266	1		-1	CDH18	HGNC	HGNC:1757	protein_coding	YES	CCDS3889.1	ENSP00000425093	Q13634		UPI0000126DBD	NM_001291956.1	deleterious(0)		15/15		hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Pfam_domain:PF01049,Gene3D:4.10.900.10											1,1						MODERATE	1	SNV	2		1,1	1										PASS		rs1439870841	.												T	3	4	6	19473400	19473400	G	T	1	0	0	0	0	1	0	0	0	2806	1020	36	2		2	CDH18	5	19473400	Missense_Mutation	SNP	G	C3L-00009_TP	10318788	19473400	162064859	110	1998											
CDH9	0	.	GRCh38	chr5	26902534	26902534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacctgtccaatgatactgcCctcctttacatcttcatcta	10	14	3	14	0	3	1	1	1	2	0	5	1	5	1	4	0	4	0	4	0	5	5			C3L-00009_TP	C3L-00009_NB	C	C																c.1195G>A	p.Gly399Ser	p.G399S	ENST00000231021	7/12	244	227	17	290	290	0	strelka-varscan-mutect	CDH9,missense_variant,p.Gly399Ser,ENST00000231021,NM_016279.3;CDH9,downstream_gene_variant,,ENST00000505045,;	T	ENST00000231021	Transcript	missense_variant	1368/3079	1195/2370	399/789	G/S	Ggc/Agc	COSM4347552	1		-1	CDH9	HGNC	HGNC:1768	protein_coding	YES	CCDS3893.1	ENSP00000231021	Q9ULB4		UPI000013C945	NM_016279.3	deleterious(0.04)		7/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF99,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	6	26902534	26902534	C	T	1	0	0	0	0	1	0	0	0	2820	623	22	3		3	CDH9	5	26902534	Missense_Mutation	SNP	C	C3L-00009_TP	7429134	26902534	154635725	111	1999											
FYB	0	.	GRCh38	chr5	39134910	39134910	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctgggttgtctgtgatgcgGatgatttcaatttgctctcc	5	17	11	8	1	4	2	1	2	3	0	5	3	4	3	1	2	2	2	1	2	1	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1650C>T	p.=	p.I550I	ENST00000512982	8/19	224	184	40	210	210	0	strelka-varscan-mutect	FYB,synonymous_variant,p.=,ENST00000351578,NM_199335.3;FYB,synonymous_variant,p.=,ENST00000505428,NM_001465.4;FYB,synonymous_variant,p.=,ENST00000512982,NM_001243093.1;FYB,synonymous_variant,p.=,ENST00000515010,;	A	ENST00000512982	Transcript	synonymous_variant	1736/2747	1650/2520	550/839	I	atC/atT		1		-1	FYB	HGNC	HGNC:4036	protein_coding	YES	CCDS58945.1	ENSP00000425845	O15117		UPI00017A75FB	NM_001243093.1			8/19		Gene3D:2.30.30.40,Pfam_domain:PF07653,hmmpanther:PTHR16830,hmmpanther:PTHR16830:SF13,SMART_domains:SM00326,Superfamily_domains:SSF50044																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	6	39134910	39134910	G	A	1	0	0	0	0	0	0	0	1	5995	1164	41	3		3	FYB	5	39134910	Silent	SNP	G	C3L-00009_TP	12232376	39134910	142403349	112	2000											
CCDC152	0	.	GRCh38	chr5	42779512	42779512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaaagagaagttaaagtCtcatgaacaggtgagtttat	17	12	9	3	0	1	3	1	2	1	1	2	4	1	3	0	1	1	2	0	1	8	5	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.317C>A	p.Ser106Tyr	p.S106Y	ENST00000361970	5/9	105	89	16	139	139	0	strelka-varscan-mutect	CCDC152,missense_variant,p.Ser106Tyr,ENST00000361970,NM_001134848.1;CCDC152,intron_variant,,ENST00000388827,;	A	ENST00000361970	Transcript	missense_variant	404/3431	317/765	106/254	S/Y	tCt/tAt		1		1	CCDC152	HGNC	HGNC:34438	protein_coding	YES	CCDS47203.1	ENSP00000354888	Q4G0S7	A0A024R043	UPI0000160C50	NM_001134848.1	tolerated(0.12)		5/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR35253,hmmpanther:PTHR35253:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	42779512	42779512	C	A	1	0	0	0	0	1	0	0	0	2473	913	32	2		2	CCDC152	5	42779512	Missense_Mutation	SNP	C	C3L-00009_TP	3644602	42779512	138758747	113	2001											
ANKDD1B	0	.	GRCh38	chr5	75635835	75635835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatggtcacagtcctgcaGtgcaggtgctgctagcccag	8	8	13	12	0	1	0	1	0	0	0	2	0	2	0	2	2	6	5	2	2	1	1	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.751G>A	p.Val251Met	p.V251M	ENST00000601380	7/14	182	140	42	221	221	0	strelka-varscan-mutect	ANKDD1B,missense_variant,p.Val251Met,ENST00000601380,NM_001276713.1;ANKDD1B,intron_variant,,ENST00000506596,;ANKDD1B,non_coding_transcript_exon_variant,,ENST00000594319,;ANKDD1B,non_coding_transcript_exon_variant,,ENST00000504514,;	A	ENST00000601380	Transcript	missense_variant	927/2569	751/1587	251/528	V/M	Gtg/Atg		1		1	ANKDD1B	HGNC	HGNC:32525	protein_coding	YES	CCDS64180.1	ENSP00000471417	A6NHY2		UPI0002A4709F	NM_001276713.1	deleterious(0.01)		7/14		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24125,hmmpanther:PTHR24125:SF1,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	6	75635835	75635835	G	A	1	0	0	0	0	1	0	0	0	725	1029	36	3		3	ANKDD1B	5	75635835	Missense_Mutation	SNP	G	C3L-00009_TP	32856323	75635835	105902424	114	2002											
ADGRV1	0	.	GRCh38	chr5	90778972	90778973	+	Frame_Shift_Ins	INS	-	-	G																															tggattttgttcctgcagcaINSggggagctcctctttgaagc																								novel		C3L-00009_TP	C3L-00009_NB	-	-																c.12961dupG	p.Glu4321GlyfsTer5	p.E4321Gfs*5	ENST00000405460	64/90	203	154	49	312	312	0	sindel-varindel-pindel	ADGRV1,frameshift_variant,p.Glu4321GlyfsTer5,ENST00000405460,NM_032119.3;ADGRV1,upstream_gene_variant,,ENST00000425867,;	G	ENST00000405460	Transcript	frameshift_variant	13053-13054/19338	12957-12958/18921	4319-4320/6306	-/X	-/G		1		1	ADGRV1	HGNC	HGNC:17416	protein_coding	YES	CCDS47246.1	ENSP00000384582	Q8WXG9		UPI00002127A7	NM_032119.3			64/90		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237,Superfamily_domains:SSF141072																	HIGH	1	insertion	1	4		1										PASS		.	.												G	7	5	6	90778972	90778972	-	G	1	0	1	1	0	0	0	0	0	379	175	7	0		0	ADGRV1	5	90778972	Frame_Shift_Ins	INS	-	C3L-00009_TP	15143137	90778972	90759287	115	2003											
FTMT	0	.	GRCh38	chr5	121852599	121852599	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagaactaggtgaccacgtGcacaacttagtgaagatggg	15	7	12	7	1	0	4	0	2	0	2	0	4	0	4	1	2	3	1	1	2	6	2	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.636G>T	p.=	p.V212V	ENST00000321339	1/1	281	232	49	421	420	1	strelka-varscan-mutect	FTMT,synonymous_variant,p.=,ENST00000321339,NM_177478.1;	T	ENST00000321339	Transcript	synonymous_variant	645/879	636/729	212/242	V	gtG/gtT		1		1	FTMT	HGNC	HGNC:17345	protein_coding	YES	CCDS4128.1	ENSP00000313691	Q8N4E7		UPI000006F87E	NM_177478.1			1/1		PROSITE_profiles:PS50905,hmmpanther:PTHR11431:SF30,hmmpanther:PTHR11431,Pfam_domain:PF00210,Gene3D:1.20.1260.10,Superfamily_domains:SSF47240																	LOW	1	SNV				1										PASS		.	.												T	2	4	6	121852599	121852599	G	T	1	0	0	0	0	0	0	0	1	5959	1306	46	2		2	FTMT	5	121852599	Silent	SNP	G	C3L-00009_TP	31073627	121852599	59685660	116	2004											
FBN2	0	.	GRCh38	chr5	128305902	128305902	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaatctggttaatgcaCacaccatttgcacaaatgcc	12	10	6	13	0	1	0	0	0	1	0	1	0	1	0	3	1	4	3	3	1	3	2	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.5469G>T	p.=	p.V1823V	ENST00000508053	49/71	365	293	72	566	566	0	strelka-varscan-mutect	FBN2,synonymous_variant,p.=,ENST00000508053,;FBN2,synonymous_variant,p.=,ENST00000262464,NM_001999.3;FBN2,synonymous_variant,p.=,ENST00000619499,;	A	ENST00000508053	Transcript	synonymous_variant	6444/11132	5469/8739	1823/2912	V	gtG/gtT		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468				49/71		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	6	128305902	128305902	C	A	1	0	0	0	0	0	0	0	1	5566	465	17	2		2	FBN2	5	128305902	Silent	SNP	C	C3L-00009_TP	6453303	128305902	53232357	117	2005											
PCDHB6	0	.	GRCh38	chr5	141151198	141151198	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaaattcagtcttatgAcgtggatgttgaggctacag	11	12	13	5	1	2	3	1	3	1	0	2	5	2	5	0	3	1	2	0	3	3	4	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.941A>G	p.Asp314Gly	p.D314G	ENST00000231136	1/1	254	203	51	369	368	1	strelka-varscan-mutect	PCDHB6,missense_variant,p.Asp314Gly,ENST00000231136,NM_018939.3;PCDHB6,missense_variant,p.Asp178Gly,ENST00000622991,NM_001303145.1;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;PCDHB17P,upstream_gene_variant,,ENST00000623466,;PCDHB17P,upstream_gene_variant,,ENST00000539533,;	G	ENST00000231136	Transcript	missense_variant	1177/3266	941/2385	314/794	D/G	gAc/gGc		1		1	PCDHB6	HGNC	HGNC:8691	protein_coding	YES	CCDS4248.1	ENSP00000231136	Q9Y5E3		UPI0003CC25E7	NM_018939.3	tolerated_low_confidence(0.07)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	6	141151198	141151198	A	G	1	0	0	0	0	1	0	0	0	11633	275	10	5		5	PCDHB6	5	141151198	Missense_Mutation	SNP	A	C3L-00009_TP	12845296	141151198	40387061	118	2006											
PCDHGB1	0	.	GRCh38	chr5	141352377	141352377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcgcggtgattctagCgatcgccctgcgcctgcgac	4	10	11	16	6	2	1	0	1	2	0	5	3	2	1	3	1	3	0	3	1	1	2			C3L-00009_TP	C3L-00009_NB	C	C																c.2117C>T	p.Ala706Val	p.A706V	ENST00000523390	1/4	321	254	67	536	536	0	strelka-varscan-mutect	PCDHGB1,missense_variant,p.Ala706Val,ENST00000523390,NM_018922.2;PCDHGB1,missense_variant,p.Ala706Val,ENST00000611598,NM_032095.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA4,upstream_gene_variant,,ENST00000571252,NM_018917.3;PCDHGA4,upstream_gene_variant,,ENST00000612927,NM_032053.2;AC005618.8,upstream_gene_variant,,ENST00000625053,;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000523390	Transcript	missense_variant	2117/4590	2117/2784	706/927	A/V	gCg/gTg	COSM1063066,COSM1595001	1		1	PCDHGB1	HGNC	HGNC:8708	protein_coding	YES	CCDS54923.1	ENSP00000429273	Q9Y5G3		UPI0000073588	NM_018922.2	tolerated(0.34)		1/4		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1324121719	.												T	3	4	6	141352377	141352377	C	T	1	0	0	0	0	1	0	0	0	11649	768	27	1		1	PCDHGB1	5	141352377	Missense_Mutation	SNP	C	C3L-00009_TP	201179	141352377	40185882	119	2007											
HAVCR1	0	.	GRCh38	chr5	157055528	157055528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctttacagaaccagctaCagaatctgcaaagaagaaaa	20	6	6	9	0	1	4	0	0	1	4	1	4	1	4	2	0	6	2	2	0	9	3	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.52G>T	p.Val18Leu	p.V18L	ENST00000625904	2/7	27	21	6	60	60	0	strelka-varscan-mutect	HAVCR1,missense_variant,p.Val18Leu,ENST00000339252,NM_001099414.1,NM_012206.2;HAVCR1,missense_variant,p.Val18Leu,ENST00000625904,;HAVCR1,missense_variant,p.Val18Leu,ENST00000522693,NM_001308156.1;HAVCR1,missense_variant,p.Val18Leu,ENST00000523175,NM_001173393.1;HAVCR1,missense_variant,p.Val18Leu,ENST00000518745,;	A	ENST00000625904	Transcript	missense_variant	585/1807	52/1206	18/401	V/L	Gta/Tta		1		-1	HAVCR1	HGNC	HGNC:17866	protein_coding	YES	CCDS78076.1	ENSP00000487363		E9PFX0	UPI000020C020		deleterious(0.01)		2/7		PROSITE_profiles:PS50835,hmmpanther:PTHR15498,hmmpanther:PTHR15498:SF8,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	6	157055528	157055528	C	A	1	0	0	0	0	1	0	0	0	6859	492	17	2		2	HAVCR1	5	157055528	Missense_Mutation	SNP	C	C3L-00009_TP	15703151	157055528	24482731	120	2008											
TLX3	0	.	GRCh38	chr5	171310368	171310368	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgcgcaggtcaagacctggTtccaaaaccggaggaccaag	13	4	12	12	3	1	1	1	0	0	1	2	3	2	3	4	4	1	2	4	4	4	1	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.640T>A	p.Phe214Ile	p.F214I	ENST00000296921	2/3	209	194	15	286	286	0	strelka-varscan-mutect	TLX3,missense_variant,p.Phe214Ile,ENST00000296921,NM_021025.2;RP11-546B8.6,upstream_gene_variant,,ENST00000619056,;	A	ENST00000296921	Transcript	missense_variant	722/1493	640/876	214/291	F/I	Ttc/Atc		1		1	TLX3	HGNC	HGNC:13532	protein_coding	YES	CCDS34288.1	ENSP00000296921	O43711		UPI000013E3AA	NM_021025.2	deleterious(0)		2/3		Gene3D:1.10.10.60,Pfam_domain:PF00046,Prints_domain:PR00024,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF154,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	171310368	171310368	T	A	1	0	0	0	0	1	0	0	0	16407	1725	60	4		4	TLX3	5	171310368	Missense_Mutation	SNP	T	C3L-00009_TP	14254840	171310368	10227891	121	2009											
ZNF454	0	.	GRCh38	chr5	178964742	178964742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatggacaataaaggaaaGattcagtagcagtagtcact	17	9	9	6	0	3	1	3	0	0	1	3	3	3	3	0	2	1	3	0	2	7	4	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.338G>T	p.Arg113Ile	p.R113I	ENST00000320129	5/5	164	151	13	247	246	1	strelka-varscan-mutect	ZNF454,missense_variant,p.Arg113Ile,ENST00000320129,NM_001178090.1,NM_182594.2;ZNF454,missense_variant,p.Arg113Ile,ENST00000519564,NM_001178089.1;RP11-281O15.4,upstream_gene_variant,,ENST00000519491,;	T	ENST00000320129	Transcript	missense_variant	641/2332	338/1569	113/522	R/I	aGa/aTa		1		1	ZNF454	HGNC	HGNC:21200	protein_coding	YES	CCDS4441.1	ENSP00000326249	Q8N9F8		UPI00001407C7	NM_001178090.1,NM_182594.2	tolerated(0.24)		5/5		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF274																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	6	178964742	178964742	G	T	1	0	0	0	0	1	0	0	0	18494	942	33	2		2	ZNF454	5	178964742	Missense_Mutation	SNP	G	C3L-00009_TP	7654374	178964742	2573517	122	2010											
ZSCAN9	0	.	GRCh38	chr6	28232791	28232791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaagagctttactcagagCtcaggtctcattcgacatca	11	10	10	10	1	4	2	4	0	1	2	6	4	4	3	0	2	3	2	0	2	2	3	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.951C>A	p.Ser317Arg	p.S317R	ENST00000425468	5/5	318	297	21	476	475	1	strelka-varscan-mutect	ZSCAN9,missense_variant,p.Ser317Arg,ENST00000425468,NM_001199479.1;ZSCAN9,missense_variant,p.Ser266Arg,ENST00000252207,NM_006299.4;ZSCAN9,missense_variant,p.Ser266Arg,ENST00000531979,NM_001199480.1;ZSCAN9,missense_variant,p.Ser295Arg,ENST00000527844,;ZSCAN9,downstream_gene_variant,,ENST00000527436,;ZSCAN9,downstream_gene_variant,,ENST00000531981,;ZSCAN9,downstream_gene_variant,,ENST00000526391,;	A	ENST00000425468	Transcript	missense_variant	1116/1791	951/1338	317/445	S/R	agC/agA		1		1	ZSCAN9	HGNC	HGNC:12984	protein_coding	YES	CCDS56407.1	ENSP00000404074	O15535		UPI0000E09E19	NM_001199479.1	tolerated(0.15)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR23226:SF15,hmmpanther:PTHR23226,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	28232791	28232791	C	A	1	0	0	0	0	1	0	0	0	18840	796	28	2		2	ZSCAN9	6	28232791	Missense_Mutation	SNP	C	C3L-00009_TP		28232791	142573188	123	2011											
MCCD1	0	.	GRCh38	chr6	31529163	31529163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaccagctccagaggaaatgGgaagatgacgtcccctccca	12	5	11	13	1	0	3	0	1	0	2	3	6	3	5	5	2	1	1	5	2	2	0	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.149G>A	p.Gly50Glu	p.G50E	ENST00000376191	1/2	122	99	23	155	155	0	strelka-varscan-mutect	MCCD1,missense_variant,p.Gly50Glu,ENST00000376191,NM_001011700.2;DDX39B,downstream_gene_variant,,ENST00000396172,NM_004640.6;DDX39B,downstream_gene_variant,,ENST00000458640,NM_080598.5;DDX39B,downstream_gene_variant,,ENST00000376177,;DDX39B,downstream_gene_variant,,ENST00000427214,;DDX39B,downstream_gene_variant,,ENST00000431908,;DDX39B,downstream_gene_variant,,ENST00000417023,;DDX39B,downstream_gene_variant,,ENST00000462421,;DDX39B,downstream_gene_variant,,ENST00000481456,;DDX39B,downstream_gene_variant,,ENST00000462256,;ATP6V1G2-DDX39B,downstream_gene_variant,,ENST00000376185,;DDX39B,downstream_gene_variant,,ENST00000482195,;DDX39B,downstream_gene_variant,,ENST00000474961,;DDX39B,downstream_gene_variant,,ENST00000484566,;DDX39B,downstream_gene_variant,,ENST00000478365,;RPL15P4,downstream_gene_variant,,ENST00000416625,;	A	ENST00000376191	Transcript	missense_variant	447/955	149/360	50/119	G/E	gGg/gAg		1		1	MCCD1	HGNC	HGNC:20668	protein_coding	YES	CCDS34396.1	ENSP00000365362	P59942		UPI00004192D0	NM_001011700.2	tolerated(0.27)		1/2		Pfam_domain:PF15707,hmmpanther:PTHR37877,hmmpanther:PTHR37877:SF1																	MODERATE	1	SNV	1			1										PASS		rs756340259	.												A	3	1	6	31529163	31529163	G	A	1	0	0	0	0	1	0	0	0	9306	1232	43	3		3	MCCD1	6	31529163	Missense_Mutation	SNP	G	C3L-00009_TP	3296372	31529163	139276816	124	2012											
DNAH8	0	.	GRCh38	chr6	38872932	38872932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattttcctcattttagatGgtcctgtggatgccatctgg	7	16	9	9	0	2	1	1	0	1	1	4	2	4	2	3	3	1	0	3	3	1	4			C3L-00009_TP	C3L-00009_NB	G	G																c.7264G>T	p.Gly2422Cys	p.G2422C	ENST00000327475	51/93	260	239	21	377	377	0	strelka-varscan-mutect	DNAH8,missense_variant,p.Gly2422Cys,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Gly2205Cys,ENST00000359357,;DNAH8,missense_variant,p.Gly2422Cys,ENST00000449981,;DNAH8,downstream_gene_variant,,ENST00000394393,;	T	ENST00000327475	Transcript	missense_variant	7373/14360	7264/14124	2422/4707	G/C	Ggt/Tgt	COSM5272172,COSM596418,COSM596419	1		1	DNAH8	HGNC	HGNC:2952	protein_coding	YES	CCDS75447.1	ENSP00000333363		A0A075B6F3	UPI000179A984	NM_001206927.1	deleterious(0)		51/93		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF280,Pfam_domain:PF07728,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												T	3	4	6	38872932	38872932	G	T	1	0	0	0	0	1	0	0	0	4422	1348	47	2		2	DNAH8	6	38872932	Missense_Mutation	SNP	G	C3L-00009_TP	7343769	38872932	131933047	125	2013											
DAAM2	0	.	GRCh38	chr6	39856430	39856430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttctccagccccatccCgaacgcagaggagctcaaca	11	5	10	15	2	2	1	1	0	1	1	4	4	3	3	4	2	4	3	4	2	2	1	rs772573007		C3L-00009_TP	C3L-00009_NB	C	C																c.128C>A	p.Pro43Gln	p.P43Q	ENST00000398904	2/25	42	36	6	53	53	0	strelka-mutect	DAAM2,missense_variant,p.Pro43Gln,ENST00000538976,NM_015345.3;DAAM2,missense_variant,p.Pro43Gln,ENST00000398904,;DAAM2,missense_variant,p.Pro43Gln,ENST00000274867,NM_001201427.1;DAAM2,missense_variant,p.Pro43Gln,ENST00000633794,;DAAM2,missense_variant,p.Pro43Gln,ENST00000405961,;DAAM2,missense_variant,p.Pro43Gln,ENST00000494405,;DAAM2,non_coding_transcript_exon_variant,,ENST00000491083,;DAAM2,non_coding_transcript_exon_variant,,ENST00000475489,;	A	ENST00000398904	Transcript	missense_variant	310/6224	128/3207	43/1068	P/Q	cCg/cAg	rs772573007,COSM1079041	1		1	DAAM2	HGNC	HGNC:18143	protein_coding	YES	CCDS56426.1	ENSP00000381876	Q86T65		UPI000020DC88		deleterious(0)		2/25		PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF171,Pfam_domain:PF06371,SMART_domains:SM01140											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs772573007	.												A	3	1	6	39856430	39856430	C	A	1	0	0	0	0	1	0	0	0	4017	652	23	1		1	DAAM2	6	39856430	Missense_Mutation	SNP	C	C3L-00009_TP	983498	39856430	130949549	126	2014											
UBR2	0	.	GRCh38	chr6	42632827	42632827	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtgttaattagcaaaccaActgaatggtcagatgagctg	14	11	10	6	0	1	3	1	2	0	1	1	3	1	3	1	1	4	3	1	1	5	2	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.1468A>T	p.Thr490Ser	p.T490S	ENST00000372899	13/47	136	125	11	126	126	0	strelka-varscan-mutect	UBR2,missense_variant,p.Thr490Ser,ENST00000372899,NM_015255.2;UBR2,missense_variant,p.Thr490Ser,ENST00000372901,;	T	ENST00000372899	Transcript	missense_variant	1726/7857	1468/5268	490/1755	T/S	Act/Tct		1		1	UBR2	HGNC	HGNC:21289	protein_coding	YES	CCDS4870.1	ENSP00000361990	Q8IWV8		UPI0000074466	NM_015255.2	tolerated(0.48)		13/47		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	42632827	42632827	A	T	1	0	0	0	0	1	0	0	0	17426	43	2	4		4	UBR2	6	42632827	Missense_Mutation	SNP	A	C3L-00009_TP	2776397	42632827	128173152	127	2015											
NFKBIE	0	.	GRCh38	chr6	44265635	44265635	+	Frame_Shift_Del	DEL	G	G	-																															cgcctcacgcggatggccccGccccctccccgcccccggcg																								rs189481001		C3L-00009_TP	C3L-00009_NB	G	G																c.129delC	p.Ala45ProfsTer4	p.A45Pfs*4	ENST00000275015	1/6	187	177	10	228	228	0	varindel-pindel	NFKBIE,frameshift_variant,p.Ala45ProfsTer4,ENST00000275015,NM_004556.2;TMEM151B,upstream_gene_variant,,ENST00000451188,NM_001137560.1;NFKBIE,upstream_gene_variant,,ENST00000619360,;NFKBIE,upstream_gene_variant,,ENST00000477930,;	-	ENST00000275015	Transcript	frameshift_variant	154/2581	129/1503	43/500	G/X	ggC/gg	rs189481001	1		-1	NFKBIE	HGNC	HGNC:7799	protein_coding	YES	CCDS34463.1	ENSP00000275015	O00221	A0A024RD24	UPI000013DA3C	NM_004556.2			1/6		Low_complexity_(Seg):seg																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	6	44265635	44265635	G	-	1	0	1	0	1	0	0	0	0	10417	1074	38	0		0	NFKBIE	6	44265635	Frame_Shift_Del	DEL	G	C3L-00009_TP	1632808	44265635	126540344	128	2016											
TMEM151B	0	.	GRCh38	chr6	44273241	44273241	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaacagcctcatgtaccAtgacagcccctgctccaacg	10	6	9	16	1	1	1	1	1	0	0	2	1	2	1	5	1	6	3	5	1	3	1	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.311A>G	p.His104Arg	p.H104R	ENST00000451188	2/3	101	87	14	162	162	0	strelka-varscan-mutect	TMEM151B,missense_variant,p.His104Arg,ENST00000451188,NM_001137560.1;TMEM151B,missense_variant,p.His104Arg,ENST00000438774,;RP11-444E17.6,missense_variant,p.His17Arg,ENST00000505802,;	G	ENST00000451188	Transcript	missense_variant	588/4895	311/1701	104/566	H/R	cAt/cGt		1		1	TMEM151B	HGNC	HGNC:21315	protein_coding	YES	CCDS47437.1	ENSP00000393161	Q8IW70		UPI00006C0A4E	NM_001137560.1	tolerated(0.14)		2/3		Pfam_domain:PF14857,hmmpanther:PTHR31893,hmmpanther:PTHR31893:SF4																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	6	44273241	44273241	A	G	1	0	0	0	0	1	0	0	0	16513	217	8	5		5	TMEM151B	6	44273241	Missense_Mutation	SNP	A	C3L-00009_TP	7606	44273241	126532738	129	2017											
CDC5L	0	.	GRCh38	chr6	44424464	44424464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtttagggttgttgggccttCctgcccctaagaatgatttt	6	16	11	8	0	0	2	0	1	0	1	1	2	1	2	4	2	1	3	4	2	3	8	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.1450C>T	p.Pro484Ser	p.P484S	ENST00000371477	11/16	167	157	10	199	199	0	strelka-varscan	CDC5L,missense_variant,p.Pro484Ser,ENST00000371477,NM_001253.3;	T	ENST00000371477	Transcript	missense_variant	1749/6423	1450/2409	484/802	P/S	Cct/Tct		1		1	CDC5L	HGNC	HGNC:1743	protein_coding	YES	CCDS4912.1	ENSP00000360532	Q99459		UPI000006EE42	NM_001253.3	deleterious(0)		11/16		Pfam_domain:PF11831																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	44424464	44424464	C	T	1	0	0	0	0	1	0	0	0	2785	855	30	3		3	CDC5L	6	44424464	Missense_Mutation	SNP	C	C3L-00009_TP	151223	44424464	126381515	130	2018											
COL9A1	0	.	GRCh38	chr6	70294510	70294510	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgagagtgcttccagtcattCgaaacgtcgtcaagaaggag	12	9	12	8	3	2	2	2	1	0	2	5	5	3	3	1	1	2	1	1	1	3	2	rs143848379		C3L-00009_TP	C3L-00009_NB	C	C																c.353G>C	p.Arg118Pro	p.R118P	ENST00000357250	5/38	323	297	26	421	421	0	strelka-varscan-mutect	COL9A1,missense_variant,p.Arg118Pro,ENST00000357250,NM_001851.4;COL9A1,missense_variant,p.Arg118Pro,ENST00000370496,;	G	ENST00000357250	Transcript	missense_variant	512/4761	353/2766	118/921	R/P	cGa/cCa	rs143848379,COSM274631	1		-1	COL9A1	HGNC	HGNC:2217	protein_coding	YES	CCDS4971.1	ENSP00000349790	P20849		UPI000020D14B	NM_001851.4			5/38		Gene3D:2.60.120.200,SMART_domains:SM00210,Superfamily_domains:SSF49899											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs143848379	.												G	3	3	6	70294510	70294510	C	G	1	0	0	0	0	1	0	0	0	3496	884	31	4		4	COL9A1	6	70294510	Missense_Mutation	SNP	C	C3L-00009_TP	25870046	70294510	100511469	131	2019											
RIMS1	0	.	GRCh38	chr6	72179863	72179863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcgcagcaagccttggggCctgaacagaagcaggcttca	10	6	12	13	1	1	2	1	1	0	1	2	2	1	2	3	3	4	4	3	3	3	2	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.760C>T	p.Pro254Ser	p.P254S	ENST00000521978	5/34	40	33	7	60	60	0	strelka-varscan-mutect	RIMS1,missense_variant,p.Pro254Ser,ENST00000264839,;RIMS1,missense_variant,p.Pro254Ser,ENST00000521978,NM_014989.5;RIMS1,missense_variant,p.Pro254Ser,ENST00000491071,;RIMS1,missense_variant,p.Pro254Ser,ENST00000520567,;RIMS1,missense_variant,p.Pro254Ser,ENST00000517960,;RIMS1,missense_variant,p.Pro254Ser,ENST00000518273,;RIMS1,missense_variant,p.Pro254Ser,ENST00000522291,;RIMS1,upstream_gene_variant,,ENST00000517433,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;	T	ENST00000521978	Transcript	missense_variant	760/5079	760/5079	254/1692	P/S	Cct/Tct		1		1	RIMS1	HGNC	HGNC:17282	protein_coding	YES	CCDS47449.1	ENSP00000428417	Q86UR5		UPI00001908FB	NM_014989.5	tolerated(0.67)		5/34		hmmpanther:PTHR12157:SF19,hmmpanther:PTHR12157																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	72179863	72179863	C	T	1	0	0	0	0	1	0	0	0	13542	739	26	3		3	RIMS1	6	72179863	Missense_Mutation	SNP	C	C3L-00009_TP	1885353	72179863	98626116	132	2020											
RIMS1	0	.	GRCh38	chr6	72182989	72182989	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgagctcagaccagtcCgagtcggtgcggccgtcccc	5	9	12	15	4	2	2	1	1	1	1	5	3	4	2	5	2	2	1	5	2	0	1	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.1518C>G	p.=	p.S506S	ENST00000521978	6/34	653	591	62	967	967	0	strelka-varscan-mutect	RIMS1,synonymous_variant,p.=,ENST00000264839,;RIMS1,synonymous_variant,p.=,ENST00000521978,NM_014989.5;RIMS1,synonymous_variant,p.=,ENST00000491071,;RIMS1,synonymous_variant,p.=,ENST00000520567,;RIMS1,synonymous_variant,p.=,ENST00000517960,;RIMS1,synonymous_variant,p.=,ENST00000518273,;RIMS1,synonymous_variant,p.=,ENST00000522291,;RIMS1,synonymous_variant,p.=,ENST00000517433,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;	G	ENST00000521978	Transcript	synonymous_variant	1518/5079	1518/5079	506/1692	S	tcC/tcG		1		1	RIMS1	HGNC	HGNC:17282	protein_coding	YES	CCDS47449.1	ENSP00000428417	Q86UR5		UPI00001908FB	NM_014989.5			6/34		hmmpanther:PTHR12157:SF19,hmmpanther:PTHR12157																	LOW	1	SNV	1			1										PASS		rs1465177083	.												G	2	3	6	72182989	72182989	C	G	1	0	0	0	0	0	0	0	1	13542	639	23	4		4	RIMS1	6	72182989	Silent	SNP	C	C3L-00009_TP	3126	72182989	98622990	133	2021											
SNX14	0	.	GRCh38	chr6	85517774	85517774	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accttcttgttgttttctgaAgtagggctgagaatggtcag	8	15	12	6	0	3	2	1	2	2	1	3	3	3	2	1	2	0	4	1	2	3	6	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.2250T>C	p.=	p.T750T	ENST00000314673	23/29	113	95	18	148	148	0	strelka-varscan-mutect	SNX14,synonymous_variant,p.=,ENST00000314673,NM_153816.5;SNX14,synonymous_variant,p.=,ENST00000346348,NM_020468.5;SNX14,synonymous_variant,p.=,ENST00000515216,;SNX14,synonymous_variant,p.=,ENST00000505648,NM_001304479.1;SNX14,synonymous_variant,p.=,ENST00000369627,NM_001297614.2;SNX14,synonymous_variant,p.=,ENST00000513865,;SNX14,synonymous_variant,p.=,ENST00000418862,;SNX14,upstream_gene_variant,,ENST00000508658,;SNX14,non_coding_transcript_exon_variant,,ENST00000508980,;SNX14,3_prime_UTR_variant,,ENST00000369635,;SNX14,non_coding_transcript_exon_variant,,ENST00000503491,;SNX14,non_coding_transcript_exon_variant,,ENST00000503608,;	G	ENST00000314673	Transcript	synonymous_variant	2427/3486	2250/2841	750/946	T	acT/acC		1		-1	SNX14	HGNC	HGNC:14977	protein_coding	YES	CCDS5004.1	ENSP00000313121	Q9Y5W7		UPI000013F8C8	NM_153816.5			23/29		hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF3																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	6	85517774	85517774	A	G	1	0	0	0	0	0	0	0	1	15206	59	3	5		5	SNX14	6	85517774	Silent	SNP	A	C3L-00009_TP	13334785	85517774	85288205	134	2022											
POU3F2	0	.	GRCh38	chr6	98835511	98835511	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggccggtctgcaccaccAcggcctgcgggacgcgcacg	5	3	15	18	7	1	0	0	0	1	0	1	1	1	1	5	4	2	2	5	4	0	0	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.638A>T	p.His213Leu	p.H213L	ENST00000328345	1/1	270	229	41	300	300	0	strelka-varscan-mutect	POU3F2,missense_variant,p.His213Leu,ENST00000328345,NM_005604.3;RP1-273N12.4,upstream_gene_variant,,ENST00000635423,;	T	ENST00000328345	Transcript	missense_variant	920/4879	638/1332	213/443	H/L	cAc/cTc		1		1	POU3F2	HGNC	HGNC:9215	protein_coding	YES	CCDS5040.1	ENSP00000329170	P20265		UPI000016A1E7	NM_005604.3	tolerated(0.21)		1/1		hmmpanther:PTHR11636:SF88,hmmpanther:PTHR11636,PIRSF_domain:PIRSF002629																	MODERATE		SNV				1										PASS		.	.												T	3	4	6	98835511	98835511	A	T	1	0	0	0	0	1	0	0	0	12391	159	6	4		4	POU3F2	6	98835511	Missense_Mutation	SNP	A	C3L-00009_TP	13317737	98835511	71970468	135	2023											
GRIK2	0	.	GRCh38	chr6	101621951	101621951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctttctttttgccaggtGgtatttttgaatatgtggaa	7	20	9	5	0	2	1	0	1	2	0	3	2	2	2	1	3	1	1	1	3	4	7	rs770760798		C3L-00009_TP	C3L-00009_NB	G	G																c.118G>T	p.Gly40Cys	p.G40C	ENST00000421544	2/16	248	231	17	353	353	0	strelka-varscan-mutect	GRIK2,missense_variant,p.Gly40Cys,ENST00000369138,NM_001166247.1;GRIK2,missense_variant,p.Gly40Cys,ENST00000413795,NM_175768.3;GRIK2,missense_variant,p.Gly40Cys,ENST00000421544,NM_021956.4;GRIK2,missense_variant,p.Gly2Cys,ENST00000318991,;GRIK2,missense_variant,p.Gly2Cys,ENST00000369137,;GRIK2,missense_variant,p.Gly2Cys,ENST00000369134,;GRIK2,missense_variant,p.Gly40Cys,ENST00000358361,;	T	ENST00000421544	Transcript	missense_variant,splice_region_variant	608/4789	118/2727	40/908	G/C	Ggt/Tgt	rs770760798	1		1	GRIK2	HGNC	HGNC:4580	protein_coding	YES	CCDS5048.1	ENSP00000397026	Q13002		UPI000012B617	NM_021956.4	deleterious(0)		2/16		Gene3D:3.40.50.2300,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		rs770760798	.												T	3	4	6	101621951	101621951	G	T	1	0	0	0	0	1	0	0	0	6656	1362	47	2		2	GRIK2	6	101621951	Missense_Mutation	SNP	G	C3L-00009_TP	2786440	101621951	69184028	136	2024											
GRIK2	0	.	GRCh38	chr6	101686274	101686274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaaaatacccaagtctcctCcatcattgaaaagtggtcga	15	9	7	10	1	2	2	1	1	1	1	5	3	3	2	3	1	1	0	3	1	6	2	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.872C>T	p.Ser291Phe	p.S291F	ENST00000421544	6/16	139	132	7	167	167	0	strelka-varscan-mutect	GRIK2,missense_variant,p.Ser291Phe,ENST00000369138,NM_001166247.1;GRIK2,missense_variant,p.Ser291Phe,ENST00000413795,NM_175768.3;GRIK2,missense_variant,p.Ser291Phe,ENST00000421544,NM_021956.4;GRIK2,missense_variant,p.Ser253Phe,ENST00000318991,;GRIK2,missense_variant,p.Ser253Phe,ENST00000369137,;GRIK2,missense_variant,p.Ser253Phe,ENST00000369134,;GRIK2,missense_variant,p.Ser291Phe,ENST00000358361,;GRIK2,intron_variant,,ENST00000455610,;	T	ENST00000421544	Transcript	missense_variant	1362/4789	872/2727	291/908	S/F	tCc/tTc		1		1	GRIK2	HGNC	HGNC:4580	protein_coding	YES	CCDS5048.1	ENSP00000397026	Q13002		UPI000012B617	NM_021956.4	deleterious(0.01)		6/16		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	101686274	101686274	C	T	1	0	0	0	0	1	0	0	0	6656	855	30	3		3	GRIK2	6	101686274	Missense_Mutation	SNP	C	C3L-00009_TP	64323	101686274	69119705	137	2025											
FIG4	0	.	GRCh38	chr6	109743749	109743749	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaggtttggctctcccAtcatcatcttgaatttagtg	8	15	8	10	0	4	2	2	1	2	1	6	2	5	2	2	2	0	2	2	2	2	4	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.1114A>C	p.Ile372Leu	p.I372L	ENST00000230124	10/23	492	463	29	693	693	0	strelka-varscan-mutect	FIG4,missense_variant,p.Ile372Leu,ENST00000230124,NM_014845.5;FIG4,downstream_gene_variant,,ENST00000368941,;	C	ENST00000230124	Transcript	missense_variant	1238/3011	1114/2724	372/907	I/L	Atc/Ctc		1		1	FIG4	HGNC	HGNC:16873	protein_coding	YES	CCDS5078.1	ENSP00000230124	Q92562		UPI000000D9A3	NM_014845.5	tolerated(0.18)		10/23		PROSITE_profiles:PS50275,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF9,Pfam_domain:PF02383																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	109743749	109743749	A	C	1	0	0	0	0	1	0	0	0	5753	217	8	5		5	FIG4	6	109743749	Missense_Mutation	SNP	A	C3L-00009_TP	8057475	109743749	61062230	138	2026											
SLC35F1	0	.	GRCh38	chr6	118154482	118154482	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctaggccaggtgttaTccctccttatttgtggaatt	6	15	10	10	0	0	0	0	0	0	0	2	1	2	1	4	4	0	1	4	4	4	5	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.211T>A	p.Ser71Thr	p.S71T	ENST00000360388	2/8	117	111	6	165	165	0	strelka-mutect	SLC35F1,missense_variant,p.Ser71Thr,ENST00000360388,NM_001029858.3;SLC35F1,missense_variant,p.Ser12Thr,ENST00000621341,;	A	ENST00000360388	Transcript	missense_variant	412/4852	211/1227	71/408	S/T	Tcc/Acc		1		1	SLC35F1	HGNC	HGNC:21483	protein_coding	YES	CCDS34524.1	ENSP00000353557	Q5T1Q4		UPI00001609C1	NM_001029858.3	deleterious(0)		2/8		Pfam_domain:PF06027,hmmpanther:PTHR14233,hmmpanther:PTHR14233:SF10,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	118154482	118154482	T	A	1	0	0	0	0	1	0	0	0	14859	1435	50	4		4	SLC35F1	6	118154482	Missense_Mutation	SNP	T	C3L-00009_TP	8410733	118154482	52651497	139	2027											
EPB41L2	0	.	GRCh38	chr6	130955240	130955240	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccttggtctcccttttTgctgctcctccttctaattt	3	20	4	14	0	2	0	0	0	2	0	6	0	5	0	4	1	2	2	4	1	1	7	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.570A>T	p.=	p.A190A	ENST00000337057	3/20	394	357	37	552	552	0	strelka-varscan-mutect	EPB41L2,synonymous_variant,p.=,ENST00000337057,NM_001431.3;EPB41L2,synonymous_variant,p.=,ENST00000368128,;EPB41L2,synonymous_variant,p.=,ENST00000628542,;EPB41L2,synonymous_variant,p.=,ENST00000527411,;EPB41L2,synonymous_variant,p.=,ENST00000530481,NM_001199388.2;EPB41L2,synonymous_variant,p.=,ENST00000445890,;EPB41L2,synonymous_variant,p.=,ENST00000528282,NM_001252660.1;EPB41L2,synonymous_variant,p.=,ENST00000392427,NM_001135554.1,NM_001135555.3;EPB41L2,synonymous_variant,p.=,ENST00000529208,;EPB41L2,synonymous_variant,p.=,ENST00000525271,;EPB41L2,synonymous_variant,p.=,ENST00000527659,;EPB41L2,synonymous_variant,p.=,ENST00000525193,;EPB41L2,downstream_gene_variant,,ENST00000532499,;EPB41L2,downstream_gene_variant,,ENST00000531356,;EPB41L2,downstream_gene_variant,,ENST00000529709,;EPB41L2,downstream_gene_variant,,ENST00000530707,;EPB41L2,downstream_gene_variant,,ENST00000526983,;EPB41L2,intron_variant,,ENST00000530148,;EPB41L2,intron_variant,,ENST00000528179,;EPB41L2,intron_variant,,ENST00000526333,;	A	ENST00000337057	Transcript	synonymous_variant	752/4457	570/3018	190/1005	A	gcA/gcT		1		-1	EPB41L2	HGNC	HGNC:3379	protein_coding	YES	CCDS5141.1	ENSP00000338481	O43491		UPI0000129AF9	NM_001431.3			3/20		Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF002304,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF17																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	6	130955240	130955240	T	A	1	0	0	0	0	0	0	0	1	5000	1799	63	4		4	EPB41L2	6	130955240	Silent	SNP	T	C3L-00009_TP	12800758	130955240	39850739	140	2028											
PPP1R14C	0	.	GRCh38	chr6	150143477	150143477	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatggatcgtggagcagctGggtcagctctacggctgcga	8	8	16	9	3	2	0	1	0	1	0	3	4	2	2	0	4	5	4	0	4	2	1	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.285G>C	p.=	p.L95L	ENST00000361131	1/4	289	269	20	437	436	1	strelka-varscan-mutect	PPP1R14C,synonymous_variant,p.=,ENST00000361131,NM_030949.2;	C	ENST00000361131	Transcript	synonymous_variant	402/2152	285/498	95/165	L	ctG/ctC		1		1	PPP1R14C	HGNC	HGNC:14952	protein_coding	YES	CCDS5226.1	ENSP00000355260	Q8TAE6		UPI0000071936	NM_030949.2			1/4		hmmpanther:PTHR16188,hmmpanther:PTHR16188:SF6,Gene3D:1j2mA00,Pfam_domain:PF05361,Superfamily_domains:0039331																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	6	150143477	150143477	G	C	1	0	0	0	0	0	0	0	1	12471	1335	47	4		4	PPP1R14C	6	150143477	Silent	SNP	G	C3L-00009_TP	19188237	150143477	20662502	141	2029											
IPCEF1	0	.	GRCh38	chr6	154246602	154246602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagactcaccatttgattgcTataccagtacagtgacgacc	12	10	7	12	1	1	3	1	2	0	1	1	4	1	3	3	0	3	2	3	0	3	5	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.235A>G	p.Ser79Gly	p.S79G	ENST00000422970	6/13	54	50	4	67	67	0	strelka-varscan-mutect	IPCEF1,missense_variant,p.Ser78Gly,ENST00000265198,NM_015553.2;IPCEF1,missense_variant,p.Ser79Gly,ENST00000422970,NM_001130699.1;IPCEF1,missense_variant,p.Ser79Gly,ENST00000367220,NM_001130700.1;IPCEF1,missense_variant,p.Ser50Gly,ENST00000519344,;IPCEF1,missense_variant,p.Ser50Gly,ENST00000517438,;IPCEF1,missense_variant,p.Ser50Gly,ENST00000519190,;IPCEF1,missense_variant,p.Ser50Gly,ENST00000519405,;IPCEF1,missense_variant,p.Ser78Gly,ENST00000520261,;OPRM1,intron_variant,,ENST00000337049,NM_001008503.2;IPCEF1,non_coding_transcript_exon_variant,,ENST00000518162,;OPRM1,intron_variant,,ENST00000524150,;	C	ENST00000422970	Transcript	missense_variant	431/3267	235/1317	79/438	S/G	Agc/Ggc		1		-1	IPCEF1	HGNC	HGNC:21204	protein_coding	YES	CCDS47509.1	ENSP00000394751	Q8WWN9		UPI000022CD0D	NM_001130699.1	tolerated(0.06)		6/13		PROSITE_profiles:PS50003,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF24,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	154246602	154246602	T	C	1	0	0	0	0	1	0	0	0	7694	1522	53	5		5	IPCEF1	6	154246602	Missense_Mutation	SNP	T	C3L-00009_TP	4103125	154246602	16559377	142	2030											
THBS2	0	.	GRCh38	chr6	169248738	169248738	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagccaacagcgtgcccctGgacttgccgtcctgcttgag	7	8	12	14	2	0	2	0	1	0	1	1	3	1	3	5	1	6	1	5	1	1	2	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.288C>T	p.=	p.S96S	ENST00000366787	4/23	159	133	26	248	247	1	strelka-varscan-mutect	THBS2,synonymous_variant,p.=,ENST00000366787,NM_003247.3;THBS2,synonymous_variant,p.=,ENST00000617924,;THBS2,downstream_gene_variant,,ENST00000435791,;THBS2,upstream_gene_variant,,ENST00000472733,;	A	ENST00000366787	Transcript	synonymous_variant	538/5811	288/3519	96/1172	S	tcC/tcT		1		-1	THBS2	HGNC	HGNC:11786	protein_coding	YES	CCDS34574.1	ENSP00000355751	P35442		UPI0000231C7F	NM_003247.3			4/23		hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF10,SMART_domains:SM00210,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	6	169248738	169248738	G	A	1	0	0	0	0	0	0	0	1	16287	1335	47	3		3	THBS2	6	169248738	Silent	SNP	G	C3L-00009_TP	15002136	169248738	1557241	143	2031											
CBX3	0	.	GRCh38	chr7	26212080	26212080	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttctttttcttaaaacAggaaagattcagatgaggca	14	15	7	5	0	3	3	1	1	2	2	3	4	3	4	0	2	1	1	0	2	3	6	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.426-2A>T		p.X142_splice	ENST00000337620		112	106	6	83	83	0	varscan-mutect	CBX3,splice_acceptor_variant,,ENST00000337620,NM_007276.4;CBX3,splice_acceptor_variant,,ENST00000396386,NM_016587.3;CBX3,splice_acceptor_variant,,ENST00000409747,;CBX3,downstream_gene_variant,,ENST00000456948,;CBX3,downstream_gene_variant,,ENST00000462165,;CBX3,downstream_gene_variant,,ENST00000497498,;CBX3,splice_acceptor_variant,,ENST00000481057,;CBX3,downstream_gene_variant,,ENST00000481300,;	T	ENST00000337620	Transcript	splice_acceptor_variant	-/2128	426/552	142/183				1		1	CBX3	HGNC	HGNC:1553	protein_coding	YES	CCDS5398.1	ENSP00000336687	Q13185	A4D177	UPI0000028565	NM_007276.4				5/5																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	6	26212080	26212080	A	T	1	0	0	0	0	0	0	1	0	2419	202	7	4		4	CBX3	7	26212080	Splice_Site	SNP	A	C3L-00009_TP		26212080	133133893	144	2032											
GHRHR	0	.	GRCh38	chr7	30969845	30969845	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggaaggagttgtggctaGagagtcttgcttgcctccca	8	10	15	8	0	1	1	0	0	1	1	2	5	2	3	2	3	2	3	2	3	2	4	rs777324294		C3L-00009_TP	C3L-00009_NB	G	G																c.55G>T	p.Glu19Ter	p.E19*	ENST00000409904	1/10	444	351	93	502	501	1	strelka-varscan-mutect	GHRHR,stop_gained,p.Glu19Ter,ENST00000409904,;GHRHR,intron_variant,,ENST00000326139,NM_000823.3;GHRHR,intron_variant,,ENST00000409316,;GHRHR,upstream_gene_variant,,ENST00000611037,;GHRHR,upstream_gene_variant,,ENST00000461424,;GHRHR,downstream_gene_variant,,ENST00000466427,;GHRHR,stop_gained,p.Glu19Ter,ENST00000396227,;GHRHR,stop_gained,p.Glu19Ter,ENST00000337750,;GHRHR,upstream_gene_variant,,ENST00000461390,;GHRHR,upstream_gene_variant,,ENST00000489974,;	T	ENST00000409904	Transcript	stop_gained	313/1613	55/1080	19/359	E/*	Gag/Tag	rs777324294	1		1	GHRHR	HGNC	HGNC:4266	protein_coding			ENSP00000387113		Q9HB45	UPI000006F6B1				1/10		Prints_domain:PR01352																	HIGH		SNV	1			1										PASS		rs777324294	.												T	4	4	6	30969845	30969845	G	T	1	0	0	0	0	0	1	0	0	6251	943	33	2		2	GHRHR	7	30969845	Nonsense_Mutation	SNP	G	C3L-00009_TP	4757765	30969845	128376128	145	2033											
NEUROD6	0	.	GRCh38	chr7	31338840	31338840	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatttcagaaagtgcccaGatgtagtttttggccagtcg	11	12	11	7	1	1	3	1	0	0	3	2	3	1	3	2	1	1	2	2	1	3	4	rs12666896		C3L-00009_TP	C3L-00009_NB	G	G																c.429C>A	p.=	p.I143I	ENST00000297142	2/2	319	253	66	358	358	0	strelka-varscan-mutect	NEUROD6,synonymous_variant,p.=,ENST00000297142,NM_022728.3;	T	ENST00000297142	Transcript	synonymous_variant	752/2131	429/1014	143/337	I	atC/atA	rs12666896	1		-1	NEUROD6	HGNC	HGNC:13804	protein_coding	YES	CCDS5434.1	ENSP00000297142	Q96NK8	A0A090N7T3	UPI000000D77D	NM_022728.3			2/2		PROSITE_profiles:PS50888,hmmpanther:PTHR19290:SF9,hmmpanther:PTHR19290,Gene3D:4.10.280.10,Pfam_domain:PF00010,PIRSF_domain:PIRSF015618,SMART_domains:SM00353,Superfamily_domains:SSF47459																	LOW	1	SNV	1			1										PASS		rs12666896	.												T	2	4	6	31338840	31338840	G	T	1	0	0	0	0	0	0	0	1	10388	932	33	2		2	NEUROD6	7	31338840	Silent	SNP	G	C3L-00009_TP	368995	31338840	128007133	146	2034											
INHBA	0	.	GRCh38	chr7	41690392	41690392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaagctgccctgcgggtgcTtctgctgctggaagaggcgg	5	8	16	12	2	1	1	0	0	1	1	1	2	1	2	2	4	6	4	2	4	2	1	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.539A>G	p.Lys180Arg	p.K180R	ENST00000242208	3/3	319	300	19	353	353	0	strelka-varscan-mutect	INHBA,missense_variant,p.Lys180Arg,ENST00000242208,NM_002192.2;INHBA,missense_variant,p.Lys180Arg,ENST00000638023,;INHBA,missense_variant,p.Lys180Arg,ENST00000442711,;INHBA-AS1,upstream_gene_variant,,ENST00000415848,;INHBA-AS1,upstream_gene_variant,,ENST00000422822,;INHBA-AS1,upstream_gene_variant,,ENST00000420821,;INHBA,non_coding_transcript_exon_variant,,ENST00000464515,;INHBA,intron_variant,,ENST00000416150,;	C	ENST00000242208	Transcript	missense_variant	786/6064	539/1281	180/426	K/R	aAg/aGg		1		-1	INHBA	HGNC	HGNC:6066	protein_coding	YES	CCDS5464.1	ENSP00000242208	P08476	A4D1W7	UPI000012D421	NM_002192.2	tolerated(0.69)		3/3		hmmpanther:PTHR11848:SF133,hmmpanther:PTHR11848,Pfam_domain:PF00688																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	41690392	41690392	T	C	1	0	0	0	0	1	0	0	0	7643	1609	56	5		5	INHBA	7	41690392	Missense_Mutation	SNP	T	C3L-00009_TP	10351552	41690392	117655581	147	2035											
POM121L12	0	.	GRCh38	chr7	53036319	53036319	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccccggccctctgcCttcaagcccctgagcaaaaa	9	6	8	18	1	2	1	1	1	1	0	2	1	2	1	6	1	5	2	6	1	3	1	rs746891586		C3L-00009_TP	C3L-00009_NB	C	C																c.648C>T	p.=	p.A216A	ENST00000408890	1/1	165	129	36	271	271	0	strelka-varscan-mutect	POM121L12,synonymous_variant,p.=,ENST00000408890,NM_182595.3;	T	ENST00000408890	Transcript	synonymous_variant	678/1283	648/891	216/296	A	gcC/gcT	rs746891586	1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3			1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30,Pfam_domain:PF15229																	LOW	1	SNV				1										PASS		rs746891586	.												T	2	4	6	53036319	53036319	C	T	1	0	0	0	0	0	0	0	1	12352	668	24	3		3	POM121L12	7	53036319	Silent	SNP	C	C3L-00009_TP	11345927	53036319	106309654	148	2036											
WBSCR17	0	.	GRCh38	chr7	71571361	71571361	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcttctggatcctggcAtggatgtatacggaggagaa	9	12	14	6	1	2	1	0	0	2	1	3	5	3	4	1	6	1	2	1	6	3	4	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.1039A>T	p.Met347Leu	p.M347L	ENST00000333538	6/11	223	176	47	304	303	1	strelka-varscan-mutect	WBSCR17,missense_variant,p.Met347Leu,ENST00000333538,NM_022479.2;WBSCR17,missense_variant,p.Met268Leu,ENST00000618959,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;	T	ENST00000333538	Transcript	missense_variant	1673/3884	1039/1797	347/598	M/L	Atg/Ttg		1		1	WBSCR17	HGNC	HGNC:16347	protein_coding	YES	CCDS5540.1	ENSP00000329654	Q6IS24	Q2L4S5	UPI00000502D5	NM_022479.2	deleterious(0)		6/11		Gene3D:3.90.550.10,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	71571361	71571361	A	T	1	0	0	0	0	1	0	0	0	17823	217	8	4		4	WBSCR17	7	71571361	Missense_Mutation	SNP	A	C3L-00009_TP	18535042	71571361	87774612	149	2037											
ABCB1	0	.	GRCh38	chr7	87516615	87516615	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcatagtcaggagcaaatGaactgacttgccccacggcc	11	7	11	12	1	1	2	1	2	0	0	1	3	1	3	3	3	3	2	3	3	3	2	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.2978C>G	p.Ser993Ter	p.S993*	ENST00000622132	24/28	587	447	140	711	711	0	strelka-varscan-mutect	ABCB1,stop_gained,p.Ser993Ter,ENST00000622132,;ABCB1,stop_gained,p.Ser993Ter,ENST00000265724,NM_000927.4;ABCB1,stop_gained,p.Ser929Ter,ENST00000543898,;ABCB1,non_coding_transcript_exon_variant,,ENST00000488737,;ABCB1,non_coding_transcript_exon_variant,,ENST00000496821,;ABCB1,non_coding_transcript_exon_variant,,ENST00000475929,;ABCB1,non_coding_transcript_exon_variant,,ENST00000483831,;HNRNPA1P9,upstream_gene_variant,,ENST00000450624,;	C	ENST00000622132	Transcript	stop_gained	3303/4778	2978/3843	993/1280	S/*	tCa/tGa		1		-1	ABCB1	HGNC	HGNC:40	protein_coding	YES	CCDS5608.1	ENSP00000478255	P08183	A4D1D2	UPI000013D66C				24/28		Gene3D:2hydA01,PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF241,Superfamily_domains:SSF90123,Transmembrane_helices:TMhelix																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	6	87516615	87516615	G	C	1	0	0	0	0	0	1	0	0	44	1294	45	4		4	ABCB1	7	87516615	Nonsense_Mutation	SNP	G	C3L-00009_TP	15945254	87516615	71829358	150	2038											
CALCR	0	.	GRCh38	chr7	93426557	93426557	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggttccactgaattttgaaTtgggcccattggcgcttcac	7	14	10	10	1	1	2	1	2	0	0	2	2	2	2	2	3	0	2	2	3	2	6	rs781657977		C3L-00009_TP	C3L-00009_NB	T	T																c.1326A>T	p.Gln442His	p.Q442H	ENST00000359558	16/16	69	64	5	89	89	0	strelka-varscan-mutect	CALCR,missense_variant,p.Gln442His,ENST00000359558,NM_001164737.1;CALCR,missense_variant,p.Gln424His,ENST00000421592,;CALCR,missense_variant,p.Gln408His,ENST00000394441,NM_001164738.1;CALCR,missense_variant,p.Gln408His,ENST00000426151,NM_001742.3;CALCR,3_prime_UTR_variant,,ENST00000360249,;CALCR,3_prime_UTR_variant,,ENST00000423724,;CALCR,3_prime_UTR_variant,,ENST00000415529,;	A	ENST00000359558	Transcript	missense_variant	1626/3696	1326/1527	442/508	Q/H	caA/caT	rs781657977	1		-1	CALCR	HGNC	HGNC:1440	protein_coding	YES	CCDS55125.1	ENSP00000352561		A0A0A0MRG0	UPI0001B8380B	NM_001164737.1	deleterious(0)		16/16		hmmpanther:PTHR12011:SF84,hmmpanther:PTHR12011,Superfamily_domains:SSF81321,Prints_domain:PR01350																	MODERATE	1	SNV	5			1										PASS		rs781657977	.												A	3	1	6	93426557	93426557	T	A	1	0	0	0	0	1	0	0	0	2269	1490	52	4		4	CALCR	7	93426557	Missense_Mutation	SNP	T	C3L-00009_TP	5909942	93426557	65919416	151	2039											
CALCR	0	.	GRCh38	chr7	93468803	93468803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaatagtacagaacatatgCattctggaacaacaaaaagt	20	8	6	7	0	1	1	0	0	1	1	1	2	1	2	0	1	5	2	0	1	9	4	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.487G>T	p.Ala163Ser	p.A163S	ENST00000359558	8/16	134	102	32	171	170	1	strelka-varscan-mutect	CALCR,missense_variant,p.Ala163Ser,ENST00000359558,NM_001164737.1;CALCR,missense_variant,p.Ala145Ser,ENST00000421592,;CALCR,missense_variant,p.Ala145Ser,ENST00000394441,NM_001164738.1;CALCR,missense_variant,p.Ala145Ser,ENST00000426151,NM_001742.3;CALCR,missense_variant,p.Ala145Ser,ENST00000360249,;CALCR,missense_variant,p.Ala145Ser,ENST00000423724,;CALCR,missense_variant,p.Ala145Ser,ENST00000415529,;	A	ENST00000359558	Transcript	missense_variant	787/3696	487/1527	163/508	A/S	Gca/Tca		1		-1	CALCR	HGNC	HGNC:1440	protein_coding	YES	CCDS55125.1	ENSP00000352561		A0A0A0MRG0	UPI0001B8380B	NM_001164737.1	deleterious(0)		8/16		hmmpanther:PTHR12011:SF84,hmmpanther:PTHR12011,Superfamily_domains:SSF111418,Prints_domain:PR01350,Prints_domain:PR00361																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	6	93468803	93468803	C	A	1	0	0	0	0	1	0	0	0	2269	724	25	2		2	CALCR	7	93468803	Missense_Mutation	SNP	C	C3L-00009_TP	42246	93468803	65877170	152	2040											
PPP1R9A	0	.	GRCh38	chr7	94910367	94910367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgagaatgctgcagtcattgCcaaaacaagggggaaaggtg	14	6	14	7	1	1	1	1	0	0	1	1	3	1	2	1	3	4	2	1	3	5	1			C3L-00009_TP	C3L-00009_NB	C	C																c.254C>T	p.Ala85Val	p.A85V	ENST00000433360	2/20	155	116	39	240	240	0	strelka-varscan-mutect	PPP1R9A,missense_variant,p.Ala85Val,ENST00000456331,NM_001166162.1;PPP1R9A,missense_variant,p.Ala85Val,ENST00000433881,;PPP1R9A,missense_variant,p.Ala85Val,ENST00000340694,NM_017650.2,NM_001166163.1;PPP1R9A,missense_variant,p.Ala85Val,ENST00000433360,NM_001166160.1;PPP1R9A,missense_variant,p.Ala85Val,ENST00000424654,;PPP1R9A,missense_variant,p.Ala85Val,ENST00000289495,NM_001166161.1;PPP1R9A,downstream_gene_variant,,ENST00000413325,;PPP1R9A,downstream_gene_variant,,ENST00000422324,;	T	ENST00000433360	Transcript	missense_variant	536/5369	254/4125	85/1374	A/V	gCc/gTc	COSM4587635,COSM4587636	1		1	PPP1R9A	HGNC	HGNC:14946	protein_coding	YES	CCDS55127.1	ENSP00000405514	Q9ULJ8		UPI000198CF27	NM_001166160.1	deleterious(0.02)		2/20		hmmpanther:PTHR16154,hmmpanther:PTHR16154:SF22											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	6	94910367	94910367	C	T	1	0	0	0	0	1	0	0	0	12501	739	26	3		3	PPP1R9A	7	94910367	Missense_Mutation	SNP	C	C3L-00009_TP	1441564	94910367	64435606	153	2041											
CYP3A7	0	.	GRCh38	chr7	99709253	99709253	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcacagtatcataggtGggtggtgcctgaaaagaaag	13	9	14	5	0	1	2	1	1	0	1	1	2	1	2	1	3	2	3	1	3	6	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1035C>T	p.=	p.P345P	ENST00000336374	11/13	362	341	21	386	386	0	strelka-varscan-mutect	CYP3A7,synonymous_variant,p.=,ENST00000336374,NM_000765.4;CYP3A7-CYP3A51P,synonymous_variant,p.=,ENST00000620220,;CYP3A7-CYP3A51P,synonymous_variant,p.=,ENST00000611620,NM_001256497.2;CYP3A7,non_coding_transcript_exon_variant,,ENST00000477357,;	A	ENST00000336374	Transcript	synonymous_variant	1038/1971	1035/1512	345/503	P	ccC/ccT		1		-1	CYP3A7	HGNC	HGNC:2640	protein_coding	YES	CCDS5673.1	ENSP00000337450	P24462		UPI00001281C6	NM_000765.4			11/13		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24302,hmmpanther:PTHR24302:SF14,Superfamily_domains:SSF48264																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	6	99709253	99709253	G	A	1	0	0	0	0	0	0	0	1	3984	1335	47	3		3	CYP3A7	7	99709253	Silent	SNP	G	C3L-00009_TP	4798886	99709253	59636720	154	2042											
CUX1	0	.	GRCh38	chr7	102227496	102227496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgaggcgagcaaggacaGcaagccaccagagcccagtg	13	2	13	13	2	0	1	0	0	0	1	1	4	0	2	3	2	4	2	3	2	2	0	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.3293G>T	p.Ser1098Ile	p.S1098I	ENST00000360264	21/24	303	286	17	379	378	1	strelka-varscan-mutect	CUX1,missense_variant,p.Ser1098Ile,ENST00000360264,NM_001202543.1;CUX1,missense_variant,p.Ser1087Ile,ENST00000292535,NM_181552.3;CUX1,missense_variant,p.Ser1065Ile,ENST00000549414,;CUX1,missense_variant,p.Ser1031Ile,ENST00000550008,;CUX1,missense_variant,p.Ser985Ile,ENST00000546411,;CUX1,missense_variant,p.Ser929Ile,ENST00000556210,;CUX1,intron_variant,,ENST00000437600,NM_001913.4;CUX1,intron_variant,,ENST00000622516,NM_181500.3;CUX1,intron_variant,,ENST00000292538,;CUX1,intron_variant,,ENST00000547394,NM_001202544.2;CUX1,intron_variant,,ENST00000425244,NM_001202545.2;CUX1,intron_variant,,ENST00000393824,NM_001202546.2;CUX1,intron_variant,,ENST00000560541,;CUX1,intron_variant,,ENST00000558836,;	T	ENST00000360264	Transcript	missense_variant	3313/13762	3293/4551	1098/1516	S/I	aGc/aTc		1		1	CUX1	HGNC	HGNC:2557	protein_coding	YES	CCDS56498.1	ENSP00000353401	P39880		UPI00001AEB98	NM_001202543.1	deleterious(0.01)		21/24		Low_complexity_(Seg):seg,hmmpanther:PTHR14043:SF4,hmmpanther:PTHR14043																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	102227496	102227496	G	T	1	0	0	0	0	1	0	0	0	3874	971	34	2		2	CUX1	7	102227496	Missense_Mutation	SNP	G	C3L-00009_TP	2518243	102227496	57118477	155	2043											
NRCAM	0	.	GRCh38	chr7	108207566	108207566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgttaaccagctaattctgGgtttggggttgccattagct	7	16	11	7	0	1	0	0	0	1	0	1	0	1	0	2	3	4	5	2	3	3	7	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1169C>A	p.Pro390His	p.P390H	ENST00000379028	13/33	160	145	15	193	193	0	strelka-varscan-mutect	NRCAM,missense_variant,p.Pro390His,ENST00000379028,;NRCAM,missense_variant,p.Pro390His,ENST00000413765,NM_001193582.1;NRCAM,missense_variant,p.Pro384His,ENST00000351718,NM_005010.4;NRCAM,missense_variant,p.Pro371His,ENST00000379024,NM_001193583.1,NM_001193584.1;NRCAM,missense_variant,p.Pro390His,ENST00000425651,NM_001037132.2;NRCAM,missense_variant,p.Pro385His,ENST00000379022,;NRCAM,missense_variant,p.Pro384His,ENST00000613830,;NRCAM,missense_variant,p.Pro384His,ENST00000417701,;NRCAM,non_coding_transcript_exon_variant,,ENST00000489800,;	T	ENST00000379028	Transcript	missense_variant	1655/6685	1169/3915	390/1304	P/H	cCc/cAc		1		-1	NRCAM	HGNC	HGNC:7994	protein_coding	YES	CCDS47686.1	ENSP00000368314	Q92823		UPI00005E2661		deleterious(0)		13/33		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	6	108207566	108207566	G	T	1	0	0	0	0	1	0	0	0	10700	1232	43	2		2	NRCAM	7	108207566	Missense_Mutation	SNP	G	C3L-00009_TP	5980070	108207566	51138407	156	2044											
RP11-286H14.4	0	.	GRCh38	chr7	129127143	129127143	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctagaggggagatcaagcTgtgtgacttcggggtgagcg	8	9	17	7	2	2	4	1	2	1	2	3	5	2	4	0	4	2	1	0	4	2	2	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.626T>A	p.Leu209Gln	p.L209Q	ENST00000467614	1/2	424	334	90	617	616	1	strelka-varscan-mutect	RP11-286H14.4,missense_variant,p.Leu209Gln,ENST00000467614,;	A	ENST00000467614	Transcript	missense_variant	626/1263	626/1218	209/405	L/Q	cTg/cAg		1		1	RP11-286H14.4	Clone_based_vega_gene		protein_coding	YES		ENSP00000490163					deleterious(0)		1/2		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF314,Superfamily_domains:SSF56112																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	6	129127143	129127143	T	A	1	0	0	0	0	1	0	0	0	13725	1580	55	4		4	RP11-286H14.4	7	129127143	Missense_Mutation	SNP	T	C3L-00009_TP	20919577	129127143	30218830	157	2045											
OR2A5	0	.	GRCh38	chr7	144050933	144050933	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccatgaaatcaaccacttcTtctgtgaaatcctgtctgtc	10	13	5	13	0	4	2	1	2	3	0	6	2	5	2	3	0	1	0	3	0	3	2			C3L-00009_TP	C3L-00009_NB	T	T																c.532T>G	p.Phe178Val	p.F178V	ENST00000408906	1/1	443	377	66	627	627	0	strelka-varscan-mutect	OR2A5,missense_variant,p.Phe178Val,ENST00000408906,NM_012365.1;	G	ENST00000408906	Transcript	missense_variant	566/1013	532/936	178/311	F/V	Ttc/Gtc	COSM1568560	1		1	OR2A5	HGNC	HGNC:8232	protein_coding	YES	CCDS43668.1	ENSP00000386208	Q96R48	A0A126GW49	UPI0000061F52	NM_012365.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF232,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												G	3	3	6	144050933	144050933	T	G	1	0	0	0	0	1	0	0	0	11058	1609	56	5		5	OR2A5	7	144050933	Missense_Mutation	SNP	T	C3L-00009_TP	14923790	144050933	15295040	158	2046											
KMT2C	0	.	GRCh38	chr7	152222673	152222673	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaagttctgacaaactgcAtgcatccatctaaaaagacc	15	11	5	10	0	2	2	0	1	2	1	3	2	3	2	2	0	3	3	2	0	5	4	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.3333T>C	p.=	p.H1111H	ENST00000262189	21/59	148	109	39	174	174	0	strelka-varscan-mutect	KMT2C,synonymous_variant,p.=,ENST00000262189,NM_170606.2;KMT2C,synonymous_variant,p.=,ENST00000355193,;KMT2C,downstream_gene_variant,,ENST00000418673,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;KMT2C,upstream_gene_variant,,ENST00000489110,;	G	ENST00000262189	Transcript	synonymous_variant	3552/16862	3333/14736	1111/4911	H	caT/caC		1		-1	KMT2C	HGNC	HGNC:13726	protein_coding	YES	CCDS5931.1	ENSP00000262189	Q8NEZ4		UPI0000141B9F	NM_170606.2			21/59		PROSITE_profiles:PS50016,hmmpanther:PTHR22884:SF373,hmmpanther:PTHR22884,Gene3D:3.30.40.10,SMART_domains:SM00249,Superfamily_domains:SSF57903																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	6	152222673	152222673	A	G	1	0	0	0	0	0	0	0	1	8297	214	8	5		5	KMT2C	7	152222673	Silent	SNP	A	C3L-00009_TP	8171740	152222673	7123300	159	2047											
CSMD1	0	.	GRCh38	chr8	2955655	2955655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgtgctcagatccccCtgcgaggaaaaagcctggat	9	10	11	11	1	2	1	1	0	1	1	3	4	3	3	3	2	3	2	3	2	2	1	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.9931G>T	p.Gly3311Trp	p.G3311W	ENST00000520002	65/71	189	168	21	261	261	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Gly3172Trp,ENST00000537824,;CSMD1,missense_variant,p.Gly2728Trp,ENST00000335551,;CSMD1,missense_variant,p.Gly3311Trp,ENST00000520002,;CSMD1,missense_variant,p.Gly3311Trp,ENST00000602557,;CSMD1,missense_variant,p.Gly3310Trp,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Gly3134Trp,ENST00000400186,;CSMD1,missense_variant,p.Gly3134Trp,ENST00000602723,;	A	ENST00000520002	Transcript	missense_variant	10487/11740	9931/10698	3311/3565	G/W	Ggg/Tgg		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0)		65/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		rs1450764141	.												A	3	1	6	2955655	2955655	C	A	1	0	0	0	0	1	0	0	0	3745	681	24	2		2	CSMD1	8	2955655	Missense_Mutation	SNP	C	C3L-00009_TP		2955655	142182981	160	2048											
TNFRSF10C	0	.	GRCh38	chr8	23116915	23116915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcccggggactcctgccCcagctgctgaagagacaatg	9	5	12	15	1	0	2	0	1	0	1	1	4	1	3	5	2	4	2	5	2	2	0	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.664C>T	p.Pro222Ser	p.P222S	ENST00000356864	5/5	194	184	10	307	303	4	varscan-mutect	TNFRSF10C,missense_variant,p.Pro222Ser,ENST00000356864,NM_003841.3;TNFRSF10C,downstream_gene_variant,,ENST00000520607,;TNFRSF10C,3_prime_UTR_variant,,ENST00000517558,;TNFRSF10C,downstream_gene_variant,,ENST00000518135,;	T	ENST00000356864	Transcript	missense_variant	1196/1718	664/780	222/259	P/S	Cca/Tca		1		1	TNFRSF10C	HGNC	HGNC:11906	protein_coding	YES	CCDS6037.1	ENSP00000349324	O14798		UPI00001AF00A	NM_003841.3	deleterious_low_confidence(0)		5/5																			MODERATE	1	SNV	1			1										PASS		rs1389093518	.												T	3	4	6	23116915	23116915	C	T	1	0	0	0	0	1	0	0	0	16756	623	22	3		3	TNFRSF10C	8	23116915	Missense_Mutation	SNP	C	C3L-00009_TP	20161260	23116915	122021721	161	2049											
C8orf4	0	.	GRCh38	chr8	40153793	40153793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgatggccttgaagaagagGacaaaagacaagcttttcca	15	8	10	8	0	0	5	0	2	0	3	1	6	1	6	2	2	1	1	2	2	5	3	rs766270756		C3L-00009_TP	C3L-00009_NB	G	G																c.261G>T	p.Arg87Ser	p.R87S	ENST00000315792	1/1	128	111	17	185	184	1	strelka-varscan-mutect	C8orf4,missense_variant,p.Arg87Ser,ENST00000315792,NM_020130.4;	T	ENST00000315792	Transcript	missense_variant	339/1854	261/321	87/106	R/S	agG/agT	rs766270756,COSM1635793	1		1	C8orf4	HGNC	HGNC:1357	protein_coding	YES	CCDS6115.1	ENSP00000319914	Q9NR00		UPI000013FBD4	NM_020130.4	deleterious(0.01)		1/1		hmmpanther:PTHR32358,hmmpanther:PTHR32358:SF1,PD287216											0,1						MODERATE	1	SNV			0,1	1										PASS		rs766270756	.												T	3	4	6	40153793	40153793	G	T	1	0	0	0	0	1	0	0	0	2157	1165	41	2		2	C8orf4	8	40153793	Missense_Mutation	SNP	G	C3L-00009_TP	17036878	40153793	104984843	162	2050											
PXDNL	0	.	GRCh38	chr8	51409432	51409432	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggttgttgcacgtgccgTcgtgggcgcggtacttcgca	4	10	16	11	6	0	0	0	0	0	0	2	0	0	0	1	3	3	6	1	3	1	4	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.2192A>G	p.Asp731Gly	p.D731G	ENST00000356297	17/23	195	169	26	239	239	0	strelka-varscan-mutect	PXDNL,missense_variant,p.Asp731Gly,ENST00000356297,NM_144651.4;PXDNL,upstream_gene_variant,,ENST00000522933,;PXDNL,upstream_gene_variant,,ENST00000522628,;	C	ENST00000356297	Transcript	missense_variant	2293/4805	2192/4392	731/1463	D/G	gAc/gGc		1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4	deleterious(0)		17/23		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	51409432	51409432	T	C	1	0	0	0	0	1	0	0	0	13002	1667	58	5		5	PXDNL	8	51409432	Missense_Mutation	SNP	T	C3L-00009_TP	11255639	51409432	93729204	163	2051											
RP1	0	.	GRCh38	chr8	54629350	54629350	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattactttaacatgcctcAtggtagtgactcagaacctt	12	13	6	10	0	2	2	2	1	0	1	2	2	2	2	2	1	4	1	2	1	5	5	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.5468A>T	p.His1823Leu	p.H1823L	ENST00000220676	4/4	373	349	24	516	516	0	strelka-varscan-mutect	RP1,missense_variant,p.His1823Leu,ENST00000220676,NM_006269.1;RP1,intron_variant,,ENST00000637698,;RP1,intron_variant,,ENST00000636932,;	T	ENST00000220676	Transcript	missense_variant	5616/7100	5468/6471	1823/2156	H/L	cAt/cTt		1		1	RP1	HGNC	HGNC:10263	protein_coding	YES	CCDS6160.1	ENSP00000220676	P56715		UPI000013455B	NM_006269.1	deleterious(0)		4/4		hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF4																	MODERATE	1	SNV	1			1										PASS		rs1477893507	.												T	3	4	6	54629350	54629350	A	T	1	0	0	0	0	1	0	0	0	13709	217	8	4		4	RP1	8	54629350	Missense_Mutation	SNP	A	C3L-00009_TP	3219918	54629350	90509286	164	2052											
CA8	0	.	GRCh38	chr8	60222660	60222660	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactcacctgtagctgggAtatagttaaagggtatcgga	12	10	11	8	1	1	0	1	0	0	0	2	2	1	2	1	3	1	4	1	3	6	5	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.727T>G	p.Ser243Ala	p.S243A	ENST00000317995	7/9	453	419	34	558	557	1	strelka-varscan-mutect	CA8,missense_variant,p.Ser243Ala,ENST00000317995,NM_004056.4;CA8,non_coding_transcript_exon_variant,,ENST00000528666,;CA8,non_coding_transcript_exon_variant,,ENST00000524872,;	C	ENST00000317995	Transcript	missense_variant	992/3812	727/873	243/290	S/A	Tcc/Gcc		1		-1	CA8	HGNC	HGNC:1382	protein_coding	YES	CCDS6174.1	ENSP00000314407	P35219		UPI000000D816	NM_004056.4	deleterious(0.01)		7/9		PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF104,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	60222660	60222660	A	C	1	0	0	0	0	1	0	0	0	2209	333	12	5		5	CA8	8	60222660	Missense_Mutation	SNP	A	C3L-00009_TP	5593310	60222660	84915976	165	2053											
SLCO5A1	0	.	GRCh38	chr8	69673108	69673108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaattctctctgcctccGcctctgcagtccatcctcct	5	12	7	17	1	3	0	0	0	3	0	8	1	7	1	6	1	2	1	6	1	1	1	rs544002796		C3L-00009_TP	C3L-00009_NB	G	G																c.2308C>T	p.Arg770Trp	p.R770W	ENST00000260126	10/10	454	406	48	600	600	0	strelka-varscan-mutect	SLCO5A1,missense_variant,p.Arg770Trp,ENST00000260126,NM_030958.2;SLCO5A1,missense_variant,p.Arg715Trp,ENST00000530307,NM_001146009.1;SLCO5A1,3_prime_UTR_variant,,ENST00000524945,NM_001146008.1;SLCO5A1,3_prime_UTR_variant,,ENST00000526750,;	A	ENST00000260126	Transcript	missense_variant	3015/9076	2308/2547	770/848	R/W	Cgg/Tgg	rs544002796,COSM1101369	1		-1	SLCO5A1	HGNC	HGNC:19046	protein_coding	YES	CCDS6205.1	ENSP00000260126	Q9H2Y9		UPI0000140F53	NM_030958.2	tolerated(0.19)		10/10		hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF91											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs544002796	.												A	3	1	6	69673108	69673108	G	A	1	0	0	0	0	1	0	0	0	15018	1086	38	1		1	SLCO5A1	8	69673108	Missense_Mutation	SNP	G	C3L-00009_TP	9450448	69673108	75465528	166	2054											
ZFHX4	0	.	GRCh38	chr8	76855959	76855959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accagagtgtaccctctgcgGggtgaagtactctgcccgct	7	9	12	13	2	2	2	0	1	2	1	2	2	2	2	3	2	4	3	3	2	3	2	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.9038G>T	p.Gly3013Val	p.G3013V	ENST00000521891	10/11	239	218	21	288	288	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Gly3013Val,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Gly2987Val,ENST00000518282,;	T	ENST00000521891	Transcript	missense_variant	9486/14019	9038/10851	3013/3616	G/V	gGg/gTg		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0)		10/11		PROSITE_patterns:PS00028,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00355,SMART_domains:SM00451,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	6	76855959	76855959	G	T	1	0	0	0	0	1	0	0	0	18213	1232	43	2		2	ZFHX4	8	76855959	Missense_Mutation	SNP	G	C3L-00009_TP	7182851	76855959	68282677	167	2055											
PKHD1L1	0	.	GRCh38	chr8	109425140	109425140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaggaaataattggccagGcgagtcaaaaattcatattc	16	9	9	7	1	2	1	2	0	0	1	3	3	2	2	1	3	0	0	1	3	5	5	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.2753G>T	p.Gly918Val	p.G918V	ENST00000378402	24/78	149	119	30	168	168	0	strelka-varscan-mutect	PKHD1L1,missense_variant,p.Gly918Val,ENST00000378402,NM_177531.4;	T	ENST00000378402	Transcript	missense_variant	2857/13076	2753/12732	918/4243	G/V	gGc/gTc		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	deleterious(0)		24/78																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	109425140	109425140	G	T	1	0	0	0	0	1	0	0	0	12068	1203	42	2		2	PKHD1L1	8	109425140	Missense_Mutation	SNP	G	C3L-00009_TP	32569181	109425140	35713496	168	2056											
ZNF572	0	.	GRCh38	chr8	124977284	124977284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgggaagaattttagtcGtagttcaaaccttattacac	13	14	8	6	1	1	1	1	0	0	1	2	2	1	2	1	1	2	2	1	1	7	6	rs201968418		C3L-00009_TP	C3L-00009_NB	G	G																c.1016G>A	p.Arg339His	p.R339H	ENST00000319286	3/3	153	140	13	220	220	0	strelka-varscan-mutect	ZNF572,missense_variant,p.Arg339His,ENST00000319286,NM_152412.2;	A	ENST00000319286	Transcript	missense_variant	1170/3275	1016/1590	339/529	R/H	cGt/cAt	rs201968418,COSM5441792	1		1	ZNF572	HGNC	HGNC:26758	protein_coding	YES	CCDS6354.1	ENSP00000319305	Q7Z3I7		UPI0000140576	NM_152412.2	tolerated(0.13)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201968418	.												A	3	1	6	124977284	124977284	G	A	1	0	0	0	0	1	0	0	0	18578	1145	40	1		1	ZNF572	8	124977284	Missense_Mutation	SNP	G	C3L-00009_TP	15552144	124977284	20161352	169	2057											
FAM135B	0	.	GRCh38	chr8	138137219	138137219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatggcacataacggtcttGgggagaagcaaccagcacga	15	5	12	9	2	1	1	0	0	1	1	1	3	1	1	1	4	4	3	1	4	4	2	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.3943C>A	p.Gln1315Lys	p.Q1315K	ENST00000395297	19/20	344	274	70	352	352	0	strelka-varscan-mutect	FAM135B,missense_variant,p.Gln1315Lys,ENST00000395297,NM_015912.3;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,3_prime_UTR_variant,,ENST00000276737,;	T	ENST00000395297	Transcript	missense_variant	4114/6962	3943/4221	1315/1406	Q/K	Caa/Aaa		1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	deleterious(0.01)		19/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482,Gene3D:3.40.50.1820,Pfam_domain:PF05057,Superfamily_domains:SSF53474																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	6	138137219	138137219	G	T	1	0	0	0	0	1	0	0	0	5299	1357	47	2		2	FAM135B	8	138137219	Missense_Mutation	SNP	G	C3L-00009_TP	13159935	138137219	7001417	170	2058											
COL22A1	0	.	GRCh38	chr8	138623761	138623761	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggacccggctttccatCtctgccctctttgccttctt	3	14	9	15	1	3	0	0	0	3	0	5	1	4	1	4	3	2	1	4	3	0	4	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.3742G>T	p.Asp1248Tyr	p.D1248Y	ENST00000303045	52/65	128	118	10	169	169	0	strelka-varscan-mutect	COL22A1,missense_variant,p.Asp1248Tyr,ENST00000303045,NM_152888.2;COL22A1,missense_variant,p.Asp941Tyr,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;COL22A1,upstream_gene_variant,,ENST00000487854,;	A	ENST00000303045	Transcript	missense_variant	4189/6346	3742/4881	1248/1626	D/Y	Gat/Tat		1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2	deleterious(0)		52/65		Low_complexity_(Seg):seg,hmmpanther:PTHR24023																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	138623761	138623761	C	A	1	0	0	0	0	1	0	0	0	3469	913	32	2		2	COL22A1	8	138623761	Missense_Mutation	SNP	C	C3L-00009_TP	486542	138623761	6514875	171	2059											
COMMD5	0	.	GRCh38	chr8	144850778	144850778	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggacctcaaagcggtaTgctgacccatctgaaagctt	10	9	12	10	1	2	2	1	2	1	0	2	3	2	3	2	3	3	3	2	3	3	2	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.561A>G	p.=	p.A187A	ENST00000450361	2/2	410	388	22	469	469	0	strelka-varscan	COMMD5,synonymous_variant,p.=,ENST00000450361,NM_001081003.2;COMMD5,synonymous_variant,p.=,ENST00000543949,NM_001287237.1;COMMD5,synonymous_variant,p.=,ENST00000305103,NM_014066.3;COMMD5,synonymous_variant,p.=,ENST00000402718,NM_001081004.2;ZNF7,downstream_gene_variant,,ENST00000525266,NM_001282796.1;COMMD5,downstream_gene_variant,,ENST00000529143,;COMMD5,downstream_gene_variant,,ENST00000533270,;ZNF7,downstream_gene_variant,,ENST00000325217,;COMMD5,synonymous_variant,p.=,ENST00000530332,;	C	ENST00000450361	Transcript	synonymous_variant	983/1573	561/675	187/224	A	gcA/gcG		1		-1	COMMD5	HGNC	HGNC:17902	protein_coding	YES	CCDS6436.1	ENSP00000394331	Q9GZQ3		UPI000004A08E	NM_001081003.2			2/2		PROSITE_profiles:PS51269,hmmpanther:PTHR15666,hmmpanther:PTHR15666:SF1,Pfam_domain:PF07258																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	6	144850778	144850778	T	C	1	0	0	0	0	0	0	0	1	3511	1451	51	5		5	COMMD5	8	144850778	Silent	SNP	T	C3L-00009_TP	6227017	144850778	287858	172	2060											
IZUMO3	0	.	GRCh38	chr9	24545496	24545496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctccttaatctgccgttCaagcagctgagttcggccgg	7	11	10	13	3	3	1	1	1	2	0	5	1	3	1	3	2	3	4	3	2	2	3	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.154G>C	p.Glu52Gln	p.E52Q	ENST00000604921	1/6	304	284	20	539	539	0	strelka-mutect	IZUMO3,missense_variant,p.Glu52Gln,ENST00000543880,;IZUMO3,missense_variant,p.Glu52Gln,ENST00000604921,NM_001271706.1;IZUMO3,intron_variant,,ENST00000418122,;RP11-20A20.2,upstream_gene_variant,,ENST00000602851,;RP11-20A20.2,upstream_gene_variant,,ENST00000602614,;	G	ENST00000604921	Transcript	missense_variant	181/743	154/702	52/233	E/Q	Gaa/Caa		1		-1	IZUMO3	HGNC	HGNC:31421	protein_coding	YES	CCDS65020.1	ENSP00000474246		S4R3E6	UPI0002742D6C	NM_001271706.1	tolerated(0.29)		1/6		hmmpanther:PTHR36470,Pfam_domain:PF15005																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	6	24545496	24545496	C	G	1	0	0	0	0	1	0	0	0	7842	835	29	4		4	IZUMO3	9	24545496	Missense_Mutation	SNP	C	C3L-00009_TP		24545496	113849221	173	2061											
FRMPD1	0	.	GRCh38	chr9	37719109	37719109	+	Missense_Mutation	SNP	C	C	A																															cctgaccgaggagaagagagCcagactgaagaccaaccccg																								novel		C3L-00009_TP	C3L-00009_NB	C	C																c.449C>A	p.Ala150Asp	p.A150D	ENST00000539465	6/16	243	214	29	375	375	0	strelka-varscan-mutect	FRMPD1,missense_variant,p.Ala150Asp,ENST00000539465,;FRMPD1,missense_variant,p.Ala150Asp,ENST00000377765,NM_014907.2;RP11-613M10.9,intron_variant,,ENST00000540557,;	A	ENST00000539465	Transcript	missense_variant	1042/5465	449/4737	150/1578	A/D	gCc/gAc		1		1	FRMPD1	HGNC	HGNC:29159	protein_coding	YES	CCDS6612.1	ENSP00000444411	Q5SYB0		UPI000013D2CC		deleterious(0)		6/16		hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF346																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	37719109	37719109	C	A	1	0	0	0	0	1	0	0	0	5927	739	26	2		2	FRMPD1	9	37719109	Missense_Mutation	SNP	C	C3L-00009_TP	13173613	37719109	100675608	174	2062	47	2									
FRMPD1	0	.	GRCh38	chr9	37719110	37719110	+	Silent	SNP	C	C	A																															ctgaccgaggagaagagagcCagactgaagaccaaccccgt																								novel		C3L-00009_TP	C3L-00009_NB	C	C																c.450C>A	p.=	p.A150A	ENST00000539465	6/16	245	216	29	377	376	1	strelka-varscan-mutect	FRMPD1,synonymous_variant,p.=,ENST00000539465,;FRMPD1,synonymous_variant,p.=,ENST00000377765,NM_014907.2;RP11-613M10.9,intron_variant,,ENST00000540557,;	A	ENST00000539465	Transcript	synonymous_variant	1043/5465	450/4737	150/1578	A	gcC/gcA		1		1	FRMPD1	HGNC	HGNC:29159	protein_coding	YES	CCDS6612.1	ENSP00000444411	Q5SYB0		UPI000013D2CC				6/16		hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF346																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	6	37719110	37719110	C	A	1	0	0	0	0	0	0	0	1	5927	581	21	2		2	FRMPD1	9	37719110	Silent	SNP	C	C3L-00009_TP	1	37719110	100675607	175	2063	47	2									
DAPK1	0	.	GRCh38	chr9	87686602	87686602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgagaacgtgagtgtgaGgagccgcagcatgatgttcg	9	8	16	8	4	0	4	0	3	0	1	1	6	0	5	1	1	4	3	1	1	1	1	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.2276G>T	p.Arg759Met	p.R759M	ENST00000408954	21/26	183	146	37	219	219	0	strelka-mutect	DAPK1,missense_variant,p.Arg759Met,ENST00000469640,;DAPK1,missense_variant,p.Arg759Met,ENST00000408954,NM_004938.3;DAPK1,missense_variant,p.Arg759Met,ENST00000622514,NM_001288729.1;DAPK1,missense_variant,p.Arg759Met,ENST00000472284,NM_001288730.1;DAPK1,missense_variant,p.Arg759Met,ENST00000358077,NM_001288731.1;DAPK1,missense_variant,p.Arg759Met,ENST00000491893,;DAPK1,3_prime_UTR_variant,,ENST00000489291,;	T	ENST00000408954	Transcript	missense_variant	2611/5892	2276/4293	759/1430	R/M	aGg/aTg		1		1	DAPK1	HGNC	HGNC:2674	protein_coding	YES	CCDS43842.1	ENSP00000386135	P53355		UPI0000210C2F	NM_004938.3	tolerated(0.14)		21/26		PROSITE_profiles:PS51424																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	6	87686602	87686602	G	T	1	0	0	0	0	1	0	0	0	4036	1000	35	2		2	DAPK1	9	87686602	Missense_Mutation	SNP	G	C3L-00009_TP	49967492	87686602	50708115	176	2064											
COL15A1	0	.	GRCh38	chr9	99061970	99061970	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatttaaatgatctgacaGgtcacagcattcagcaacat	15	10	8	8	0	3	2	2	2	1	0	3	3	3	3	0	2	3	2	0	2	4	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.3403-1G>T		p.X1135_splice	ENST00000375001		87	71	16	103	103	0	strelka-varscan-mutect	COL15A1,splice_acceptor_variant,,ENST00000375001,NM_001855.4;COL15A1,splice_acceptor_variant,,ENST00000610452,;	T	ENST00000375001	Transcript	splice_acceptor_variant	-/5496	3403/4167	1135/1388				1		1	COL15A1	HGNC	HGNC:2192	protein_coding	YES	CCDS35081.1	ENSP00000364140	P39059		UPI0000211506	NM_001855.4				36/41																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	6	99061970	99061970	G	T	1	0	0	0	0	0	0	1	0	3460	1014	35	2		2	COL15A1	9	99061970	Splice_Site	SNP	G	C3L-00009_TP	11375368	99061970	39332747	177	2065											
OR13C9	0	.	GRCh38	chr9	104617449	104617449	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgaagaggatggtcccAtagaatattatgaccacagt	15	10	9	7	0	0	4	0	2	0	2	1	5	1	5	2	2	1	0	2	2	6	4	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.756T>C	p.=	p.Y252Y	ENST00000259362	1/1	81	67	14	117	117	0	strelka-varscan-mutect	OR13C9,synonymous_variant,p.=,ENST00000259362,NM_001001956.1;	G	ENST00000259362	Transcript	synonymous_variant	756/957	756/957	252/318	Y	taT/taC		1		-1	OR13C9	HGNC	HGNC:15104	protein_coding	YES	CCDS35093.1	ENSP00000259362	Q8NGT0		UPI0000041D56	NM_001001956.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF23,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												G	2	3	6	104617449	104617449	A	G	1	0	0	0	0	0	0	0	1	11015	224	8	5		5	OR13C9	9	104617449	Silent	SNP	A	C3L-00009_TP	5555479	104617449	33777268	178	2066											
EPB41L4B	0	.	GRCh38	chr9	109192336	109192336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggctccagggtaaaggcaCctcctcggtcagaggggctc	7	6	14	14	2	1	1	1	0	0	1	5	1	3	1	4	6	0	4	4	6	2	1	rs199718023		C3L-00009_TP	C3L-00009_NB	C	C																c.2243G>A	p.Gly748Asp	p.G748D	ENST00000374566	22/26	92	72	20	132	132	0	strelka-varscan-mutect	EPB41L4B,missense_variant,p.Gly748Asp,ENST00000374566,NM_019114.4;RNU6-984P,downstream_gene_variant,,ENST00000363236,;	T	ENST00000374566	Transcript	missense_variant	2761/5800	2243/2703	748/900	G/D	gGt/gAt	rs199718023	1		-1	EPB41L4B	HGNC	HGNC:19818	protein_coding	YES	CCDS43859.1	ENSP00000363694	Q9H329		UPI0000458994	NM_019114.4	tolerated_low_confidence(0.07)		22/26		hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF18												26872740					MODERATE	1	SNV	1			1										PASS		rs199718023	.												T	3	4	6	109192336	109192336	C	T	1	0	0	0	0	1	0	0	0	5003	507	18	3		3	EPB41L4B	9	109192336	Missense_Mutation	SNP	C	C3L-00009_TP	4574887	109192336	29202381	179	2067											
LPAR1	0	.	GRCh38	chr9	110941541	110941541	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagccaaagatgtgagcatAgagaaccaccattaccacaa	18	6	7	10	0	0	3	0	1	0	2	0	4	0	3	4	0	4	1	4	0	6	3	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.673T>C	p.Tyr225His	p.Y225H	ENST00000374431	4/5	250	200	50	368	368	0	strelka-varscan-mutect	LPAR1,missense_variant,p.Tyr225His,ENST00000374431,NM_057159.2;LPAR1,missense_variant,p.Tyr225His,ENST00000374430,;LPAR1,missense_variant,p.Tyr225His,ENST00000358883,NM_001401.3;LPAR1,missense_variant,p.Tyr207His,ENST00000541779,;LPAR1,downstream_gene_variant,,ENST00000441240,;	G	ENST00000374431	Transcript	missense_variant	1057/3637	673/1095	225/364	Y/H	Tat/Cat		1		-1	LPAR1	HGNC	HGNC:3166	protein_coding	YES	CCDS6777.1	ENSP00000363553	Q92633	Q5VZX0	UPI000011DBF9	NM_057159.2	deleterious(0)		4/5		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF22,hmmpanther:PTHR22750,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	6	110941541	110941541	A	G	1	0	0	0	0	1	0	0	0	8807	420	15	5		5	LPAR1	9	110941541	Missense_Mutation	SNP	A	C3L-00009_TP	1749205	110941541	27453176	180	2068											
SNAPC4	0	.	GRCh38	chr9	136379110	136379110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggtggcctccctggcaCgggcctcctgaagccgcttc	3	7	13	18	3	0	1	0	1	0	0	3	1	2	1	6	4	1	2	6	4	1	1			C3L-00009_TP	C3L-00009_NB	C	C																c.2717G>A	p.Arg906His	p.R906H	ENST00000298532	21/23	59	50	9	118	118	0	strelka-varscan-mutect	SNAPC4,missense_variant,p.Arg906His,ENST00000298532,NM_003086.2;	T	ENST00000298532	Transcript	missense_variant	3086/5010	2717/4410	906/1469	R/H	cGt/cAt	COSM5441447	1		-1	SNAPC4	HGNC	HGNC:11137	protein_coding	YES	CCDS6998.1	ENSP00000298532	Q5SXM2	A0A024R8F4	UPI000013E4EC	NM_003086.2	tolerated(0.06)		21/23													1						MODERATE	1	SNV	1		1	1										PASS		rs1023537386	.												T	3	4	6	136379110	136379110	C	T	1	0	0	0	0	1	0	0	0	15158	536	19	1		1	SNAPC4	9	136379110	Missense_Mutation	SNP	C	C3L-00009_TP	25437569	136379110	2015607	181	2069											
SFMBT2	0	.	GRCh38	chr10	7283906	7283906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagctttggcccttacctGaaggtgggtccattctgtat	9	13	10	9	0	1	1	0	1	1	0	2	1	2	1	3	3	2	2	3	3	5	4	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.770C>T	p.Ser257Leu	p.S257L	ENST00000397167	6/21	136	128	8	169	169	0	strelka-varscan-mutect	SFMBT2,missense_variant,p.Ser257Leu,ENST00000397167,NM_001029880.2;SFMBT2,missense_variant,p.Ser257Leu,ENST00000361972,NM_001018039.1;SFMBT2,downstream_gene_variant,,ENST00000379713,;	A	ENST00000397167	Transcript	missense_variant,splice_region_variant	963/8024	770/2685	257/894	S/L	tCa/tTa		1		-1	SFMBT2	HGNC	HGNC:20256	protein_coding	YES	CCDS31138.1	ENSP00000380353	Q5VUG0		UPI00001C1EDF	NM_001029880.2	tolerated(0.43)		6/21		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62,Pfam_domain:PF02820,Gene3D:2.30.30.160,Superfamily_domains:SSF63748																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	6	7283906	7283906	G	A	1	0	0	0	0	1	0	0	0	14436	1304	45	3		3	SFMBT2	10	7283906	Missense_Mutation	SNP	G	C3L-00009_TP		7283906	126513516	182	2070											
ITIH5	0	.	GRCh38	chr10	7563160	7563160	+	Frame_Shift_Del	DEL	C	C	-																															tgccaggtaatccttgtactCcccgtcaatcagtttggcgg																								novel		C3L-00009_TP	C3L-00009_NB	C	C																c.2752delG	p.Glu918SerfsTer15	p.E918Sfs*15	ENST00000397146	14/14	344	301	43	448	447	1	sindel-varindel-pindel	ITIH5,frameshift_variant,p.Glu918SerfsTer15,ENST00000397146,NM_030569.6;ITIH5,frameshift_variant,p.Glu704SerfsTer15,ENST00000613909,NM_032817.5;ITIH5,downstream_gene_variant,,ENST00000473591,;	-	ENST00000397146	Transcript	frameshift_variant	2831/6721	2752/2829	918/942	E/X	Gag/ag		1		-1	ITIH5	HGNC	HGNC:21449	protein_coding	YES		ENSP00000380333		C9J2H1	UPI000014D02E	NM_030569.6			14/14		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF62																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	6	7563160	7563160	C	-	1	0	1	0	1	0	0	0	0	7813	864	30	0		0	ITIH5	10	7563160	Frame_Shift_Del	DEL	C	C3L-00009_TP	279254	7563160	126234262	183	2071											
NMT2	0	.	GRCh38	chr10	15141535	15141546	+	In_Frame_Del	DEL	CTCCCAAATACC	CTCCCAAATACC	-																															tttcttctttttctttttggCtcccaaataccctccaggac																								novel		C3L-00009_TP	C3L-00009_NB	CTCCCAAATACC	CTCCCAAATACC																c.122_133delGGTATTTGGGAG	p.Gly41_Gly44del	p.G41_G44del	ENST00000378165	2/12	139	112	27	166	166	0	sindel-varindel-pindel	NMT2,inframe_deletion,p.Gly41_Gly44del,ENST00000378165,NM_004808.2;NMT2,inframe_deletion,p.Gly14_Glu17del,ENST00000378150,NM_001308295.1;NMT2,upstream_gene_variant,,ENST00000478580,;RPP38,downstream_gene_variant,,ENST00000451677,;	-	ENST00000378165	Transcript	inframe_deletion	203-214/2907	122-133/1497	41-45/498	GYLGA/A	gGGTATTTGGGAGcc/gcc		1		-1	NMT2	HGNC	HGNC:7858	protein_coding	YES	CCDS7109.1	ENSP00000367407	O60551		UPI0000130278	NM_004808.2			2/12		hmmpanther:PTHR11377,hmmpanther:PTHR11377:SF6																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	6	15141535	15141535	CTCCCAAATACC	-	1	0	1	0	1	0	0	0	0	10545	797	28	0		0	NMT2	10	15141535	In_Frame_Del	DEL	CTCCCAAATACC	C3L-00009_TP	7578375	15141535	118655887	184	2072											
HACD1	0	.	GRCh38	chr10	17617288	17617288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggggaccctgcccagcCtgcagcccgagagccgctgc	6	3	16	16	2	0	1	0	0	0	1	0	4	0	3	5	3	6	2	5	3	0	0	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.52G>T	p.Gly18Cys	p.G18C	ENST00000361271	1/7	99	81	18	119	119	0	strelka-varscan-mutect	HACD1,missense_variant,p.Gly18Cys,ENST00000361271,NM_014241.3;HACD1,missense_variant,p.Gly18Cys,ENST00000326961,;HACD1,upstream_gene_variant,,ENST00000466335,;HACD1,non_coding_transcript_exon_variant,,ENST00000632169,;	A	ENST00000361271	Transcript	missense_variant	90/2237	52/867	18/288	G/C	Ggc/Tgc		1		-1	HACD1	HGNC	HGNC:9639	protein_coding	YES	CCDS7121.1	ENSP00000355308	B0YJ81		UPI000036666A	NM_014241.3	tolerated_low_confidence(0.09)		1/7		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	17617288	17617288	C	A	1	0	0	0	0	1	0	0	0	6822	681	24	2		2	HACD1	10	17617288	Missense_Mutation	SNP	C	C3L-00009_TP	2475753	17617288	116180134	185	2073											
TMEM236	0	.	GRCh38	chr10	17795958	17795958	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccattcaacctctttgcaAcacataaaaactgtgacgga	15	10	5	11	1	2	1	1	1	1	0	3	2	3	2	2	1	4	1	2	1	5	3	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.510A>T	p.Gln170His	p.Q170H	ENST00000377495	4/4	642	556	86	856	856	0	strelka-varscan-mutect	TMEM236,missense_variant,p.Gln170His,ENST00000377495,NM_001098844.2;	T	ENST00000377495	Transcript	missense_variant	554/5464	510/1056	170/351	Q/H	caA/caT		1		1	TMEM236	HGNC	HGNC:23473	protein_coding	YES	CCDS41492.1	ENSP00000366715	Q5W0B7		UPI000041A684	NM_001098844.2	tolerated(0.13)		4/4		hmmpanther:PTHR31453,hmmpanther:PTHR31453:SF2,PD098445																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	6	17795958	17795958	A	T	1	0	0	0	0	1	0	0	0	16597	40	2	4		4	TMEM236	10	17795958	Missense_Mutation	SNP	A	C3L-00009_TP	178670	17795958	116001464	186	2074											
MLLT10	0	.	GRCh38	chr10	21732902	21732902	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccaaatgtgtggtagtttTaggaatgctgaagtcattac	12	14	10	5	0	1	1	1	1	0	0	2	2	2	2	1	2	2	3	1	2	6	4	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.2222T>C	p.Leu741Ser	p.L741S	ENST00000307729	18/23	93	82	11	119	119	0	strelka-varscan-mutect	MLLT10,missense_variant,p.Leu757Ser,ENST00000377072,NM_004641.3;MLLT10,missense_variant,p.Leu741Ser,ENST00000307729,;MLLT10,missense_variant,p.Leu741Ser,ENST00000631589,;MLLT10,missense_variant,p.Leu741Ser,ENST00000377059,NM_001195626.1;MLLT10,downstream_gene_variant,,ENST00000438473,;	C	ENST00000307729	Transcript	missense_variant	2400/5032	2222/3207	741/1068	L/S	tTa/tCa		1		1	MLLT10	HGNC	HGNC:16063	protein_coding	YES	CCDS55708.1	ENSP00000307411	P55197		UPI00001F8FF7		deleterious(0)		18/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF93																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	21732902	21732902	T	C	1	0	0	0	0	1	0	0	0	9589	1768	61	5		5	MLLT10	10	21732902	Missense_Mutation	SNP	T	C3L-00009_TP	3936944	21732902	112064520	187	2075											
ANKRD30A	0	.	GRCh38	chr10	37217747	37217747	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgccgatatattaaatGaaaaaattagggaagaatta	21	10	8	2	1	0	2	0	1	0	1	0	5	0	3	1	1	1	0	1	1	12	5			C3L-00009_TP	C3L-00009_NB	G	G																c.2968G>T	p.Glu990Ter	p.E990*	ENST00000361713	33/36	102	95	7	152	152	0	varscan-mutect	ANKRD30A,stop_gained,p.Glu1109Ter,ENST00000374660,;ANKRD30A,stop_gained,p.Glu1046Ter,ENST00000611781,;ANKRD30A,stop_gained,p.Glu990Ter,ENST00000602533,;ANKRD30A,stop_gained,p.Glu990Ter,ENST00000361713,NM_052997.2;	T	ENST00000361713	Transcript	stop_gained	3067/4405	2968/4026	990/1341	E/*	Gaa/Taa	COSM1956535,COSM1956536	1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2			33/36		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147											1,1						HIGH	1	SNV	5		1,1	1										PASS		rs1308226053	.												T	4	4	6	37217747	37217747	G	T	1	0	0	0	0	0	1	0	0	761	1291	45	2		2	ANKRD30A	10	37217747	Nonsense_Mutation	SNP	G	C3L-00009_TP	15484845	37217747	96579675	188	2076											
WDFY4	0	.	GRCh38	chr10	48807916	48807916	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccagttgctggagatgcTgctcagtgtaatatcttccc	10	12	9	10	0	2	1	1	0	1	1	3	2	3	1	2	1	4	5	2	1	3	4	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.4796T>A	p.Leu1599Gln	p.L1599Q	ENST00000325239	27/61	133	123	10	143	143	0	strelka-varscan-mutect	WDFY4,missense_variant,p.Leu1599Gln,ENST00000325239,NM_020945.1;WDFY4,missense_variant,p.Leu146Gln,ENST00000374161,;	A	ENST00000325239	Transcript	missense_variant	4796/9555	4796/9555	1599/3184	L/Q	cTg/cAg		1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1	deleterious(0)		27/61		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	6	48807916	48807916	T	A	1	0	0	0	0	1	0	0	0	17831	1580	55	4		4	WDFY4	10	48807916	Missense_Mutation	SNP	T	C3L-00009_TP	11590169	48807916	84989506	189	2077											
OGDHL	0	.	GRCh38	chr10	49752176	49752176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagagagggtgttttcaGagcccccaatgaaggtggtt	10	9	15	7	0	1	4	1	1	0	3	1	5	1	4	2	3	1	3	2	3	2	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.551C>A	p.Ser184Tyr	p.S184Y	ENST00000374103	5/23	336	288	48	435	434	1	strelka-varscan-mutect	OGDHL,missense_variant,p.Ser184Tyr,ENST00000374103,NM_018245.2;OGDHL,missense_variant,p.Ser127Tyr,ENST00000419399,NM_001143996.1;OGDHL,5_prime_UTR_variant,,ENST00000432695,NM_001143997.1;OGDHL,downstream_gene_variant,,ENST00000471460,;	T	ENST00000374103	Transcript	missense_variant	637/3704	551/3033	184/1010	S/Y	tCt/tAt		1		-1	OGDHL	HGNC	HGNC:25590	protein_coding	YES	CCDS7234.1	ENSP00000363216	Q9ULD0		UPI000013D6A4	NM_018245.2	deleterious(0.01)		5/23		PIRSF_domain:PIRSF000157,hmmpanther:PTHR23152,hmmpanther:PTHR23152:SF5,Superfamily_domains:SSF52518,TIGRFAM_domain:TIGR00239																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	49752176	49752176	G	T	1	0	0	0	0	1	0	0	0	10914	942	33	2		2	OGDHL	10	49752176	Missense_Mutation	SNP	G	C3L-00009_TP	944260	49752176	84045246	190	2078											
PCDH15	0	.	GRCh38	chr10	54317280	54317280	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtatatttaccggagttctCaactcaggtatggcagcttg	10	13	10	8	1	2	0	2	0	1	0	3	1	2	1	1	3	3	5	1	3	5	7	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.882G>C	p.Leu294Phe	p.L294F	ENST00000373957	9/35	372	347	25	516	516	0	strelka-varscan-mutect	PCDH15,missense_variant,p.Leu294Phe,ENST00000614895,;PCDH15,missense_variant,p.Leu289Phe,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Leu289Phe,ENST00000414778,;PCDH15,missense_variant,p.Leu294Phe,ENST00000617051,;PCDH15,missense_variant,p.Leu294Phe,ENST00000373957,NM_001142763.1;PCDH15,missense_variant,p.Leu289Phe,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,missense_variant,p.Leu289Phe,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Leu267Phe,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Leu252Phe,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Leu289Phe,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Leu289Phe,ENST00000622048,;PCDH15,missense_variant,p.Leu289Phe,ENST00000437009,NM_001142765.1;PCDH15,missense_variant,p.Leu289Phe,ENST00000617271,NM_001142770.1;PCDH15,missense_variant,p.Leu294Phe,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Leu289Phe,ENST00000395445,;PCDH15,missense_variant,p.Leu289Phe,ENST00000616114,;PCDH15,missense_variant,p.Leu289Phe,ENST00000395438,;PCDH15,missense_variant,p.Leu294Phe,ENST00000612394,;PCDH15,missense_variant,p.Leu294Phe,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Leu289Phe,ENST00000373955,;PCDH15,missense_variant,p.Leu289Phe,ENST00000395446,;PCDH15,missense_variant,p.Leu289Phe,ENST00000395440,;PCDH15,missense_variant,p.Leu289Phe,ENST00000395442,;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,missense_variant,p.Leu289Phe,ENST00000448885,;PCDH15,missense_variant,p.Leu289Phe,ENST00000373956,;PCDH15,missense_variant,p.Leu289Phe,ENST00000414367,;	G	ENST00000373957	Transcript	missense_variant	1277/7032	882/5889	294/1962	L/F	ttG/ttC		1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1	tolerated(0.47)		9/35		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF11,hmmpanther:PTHR24028																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	6	54317280	54317280	C	G	1	0	0	0	0	1	0	0	0	11598	825	29	4		4	PCDH15	10	54317280	Missense_Mutation	SNP	C	C3L-00009_TP	4565104	54317280	79480142	191	2079											
ANK3	0	.	GRCh38	chr10	60279636	60279636	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtaacttgcattggcatCagactaaaataaaaaagaaa	21	9	6	5	0	1	2	1	0	0	2	1	2	1	2	0	1	2	3	0	1	8	6	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.118G>T	p.Asp40Tyr	p.D40Y	ENST00000280772	2/44	172	149	23	230	230	0	strelka-varscan-mutect	ANK3,missense_variant,p.Asp40Tyr,ENST00000280772,NM_020987.3;ANK3,missense_variant,p.Asp34Tyr,ENST00000373827,NM_001204403.1;ANK3,missense_variant,p.Asp23Tyr,ENST00000503366,NM_001204404.1;ANK3,missense_variant,p.Asp14Tyr,ENST00000503925,;ANK3,missense_variant,p.Asp23Tyr,ENST00000622427,;	A	ENST00000280772	Transcript	missense_variant	310/16874	118/13134	40/4377	D/Y	Gat/Tat		1		-1	ANK3	HGNC	HGNC:494	protein_coding	YES	CCDS7258.1	ENSP00000280772	Q12955		UPI0000141BA9	NM_020987.3	deleterious(0)		2/44		Low_complexity_(Seg):seg,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF22																	MODERATE	1	SNV	1			1										PASS		rs1430387975	.												A	3	1	6	60279636	60279636	C	A	1	0	0	0	0	1	0	0	0	722	840	29	2		2	ANK3	10	60279636	Missense_Mutation	SNP	C	C3L-00009_TP	5962356	60279636	73517786	192	2080											
MYPN	0	.	GRCh38	chr10	68210431	68210431	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcatgctcttctcggagTgtagtggagagtgatgaact	9	14	12	6	1	3	3	1	2	2	1	4	5	3	4	0	2	2	2	0	2	3	4	rs750175617		C3L-00009_TP	C3L-00009_NB	T	T																c.3939T>A	p.Ser1313Arg	p.S1313R	ENST00000358913	20/20	607	521	86	899	896	3	strelka-varscan-mutect	MYPN,missense_variant,p.Ser1019Arg,ENST00000613327,NM_001256268.1;MYPN,missense_variant,p.Ser1313Arg,ENST00000358913,NM_032578.3;MYPN,missense_variant,p.Ser1313Arg,ENST00000540630,NM_001256267.1;MYPN,missense_variant,p.Ser1038Arg,ENST00000354393,;	A	ENST00000358913	Transcript	missense_variant	4427/6013	3939/3963	1313/1320	S/R	agT/agA	rs750175617	1		1	MYPN	HGNC	HGNC:23246	protein_coding	YES	CCDS7275.1	ENSP00000351790	Q86TC9		UPI00002288CF	NM_032578.3	tolerated(0.13)		20/20																			MODERATE	1	SNV	1			1										PASS		rs750175617	.												A	3	1	6	68210431	68210431	T	A	1	0	0	0	0	1	0	0	0	10099	1693	59	4		4	MYPN	10	68210431	Missense_Mutation	SNP	T	C3L-00009_TP	7930795	68210431	65586991	193	2081											
OPN4	0	.	GRCh38	chr10	86658669	86658669	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgccctggcctggagtctgCcacccttcttcggctggagt	4	11	12	14	1	2	0	0	0	2	0	3	2	2	2	4	4	2	1	4	4	0	2	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.643C>G	p.Pro215Ala	p.P215A	ENST00000372071	5/11	269	223	46	352	352	0	strelka-varscan-mutect	OPN4,missense_variant,p.Pro215Ala,ENST00000372071,NM_001030015.2;OPN4,missense_variant,p.Pro204Ala,ENST00000241891,NM_033282.3;OPN4,missense_variant,p.Pro215Ala,ENST00000443292,;	G	ENST00000372071	Transcript	missense_variant	870/2401	643/1470	215/489	P/A	Cca/Gca		1		1	OPN4	HGNC	HGNC:14449	protein_coding	YES	CCDS31237.1	ENSP00000361141	Q9UHM6		UPI00001544ED	NM_001030015.2	tolerated(0.3)		5/11		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24240,hmmpanther:PTHR24240:SF72,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	6	86658669	86658669	C	G	1	0	0	0	0	1	0	0	0	10958	739	26	4		4	OPN4	10	86658669	Missense_Mutation	SNP	C	C3L-00009_TP	18448238	86658669	47138753	194	2082											
PLCE1	0	.	GRCh38	chr10	94031394	94031394	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgagaaaccatcagcatggCcttcctcagagacaatttta	13	11	7	10	0	2	2	2	1	0	2	3	4	3	2	3	1	2	1	3	1	3	4	rs374493261		C3L-00009_TP	C3L-00009_NB	C	C																c.348C>G	p.=	p.G116G	ENST00000371380	1/32	563	478	85	688	688	0	strelka-varscan-mutect	PLCE1,synonymous_variant,p.=,ENST00000371380,NM_016341.3,NM_001288989.1;	G	ENST00000371380	Transcript	synonymous_variant	583/12024	348/6909	116/2302	G	ggC/ggG	rs374493261	1		1	PLCE1	HGNC	HGNC:17175	protein_coding	YES	CCDS41552.1	ENSP00000360431	Q9P212		UPI00001F93EE	NM_016341.3,NM_001288989.1			1/32																			LOW	1	SNV	1			1										PASS		rs374493261	.												G	2	3	6	94031394	94031394	C	G	1	0	0	0	0	0	0	0	1	12128	726	26	4		4	PLCE1	10	94031394	Silent	SNP	C	C3L-00009_TP	7372725	94031394	39766028	195	2083											
SLIT1	0	.	GRCh38	chr10	97057251	97057251	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctccaaacacaccacggggGaggtctgtgatcttgtttcc	8	10	10	13	1	2	1	0	1	2	0	4	2	4	2	4	3	1	1	4	3	1	2	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1116C>T	p.=	p.L372L	ENST00000266058	12/37	175	160	15	171	171	0	strelka-varscan-mutect	SLIT1,synonymous_variant,p.=,ENST00000266058,NM_003061.2;SLIT1,synonymous_variant,p.=,ENST00000371070,;SLIT1,synonymous_variant,p.=,ENST00000314867,;SLIT1,downstream_gene_variant,,ENST00000371041,;	A	ENST00000266058	Transcript	synonymous_variant	1362/7925	1116/4605	372/1534	L	ctC/ctT		1		-1	SLIT1	HGNC	HGNC:11085	protein_coding	YES	CCDS7453.1	ENSP00000266058	O75093		UPI00001F9491	NM_003061.2			12/37		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF39,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	6	97057251	97057251	G	A	1	0	0	0	0	0	0	0	1	15030	1161	41	3		3	SLIT1	10	97057251	Silent	SNP	G	C3L-00009_TP	3025857	97057251	36740171	196	2084											
HOGA1	0	.	GRCh38	chr10	97584743	97584743	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttctgtgaggcaggggCtaagcaggagcttgtccagg	7	9	17	8	0	2	1	0	1	2	0	3	2	3	2	1	6	2	4	1	6	1	3	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.40C>T	p.=	p.L14L	ENST00000370646	1/7	78	73	5	98	98	0	strelka-mutect	HOGA1,synonymous_variant,p.=,ENST00000370646,NM_138413.3;HOGA1,synonymous_variant,p.=,ENST00000370647,NM_001134670.1;RP11-548K23.11,synonymous_variant,p.=,ENST00000370649,;ANKRD2,downstream_gene_variant,,ENST00000370655,;ANKRD2,downstream_gene_variant,,ENST00000307518,NM_001291218.1,NM_020349.3;ANKRD2,downstream_gene_variant,,ENST00000298808,NM_001291219.1,NM_001129981.2;C10orf62,upstream_gene_variant,,ENST00000370640,NM_001009997.2;ANKRD2,downstream_gene_variant,,ENST00000455090,;HOGA1,non_coding_transcript_exon_variant,,ENST00000465608,;	T	ENST00000370646	Transcript	synonymous_variant	401/2488	40/984	14/327	L	Cta/Tta		1		1	HOGA1	HGNC	HGNC:25155	protein_coding	YES	CCDS7467.1	ENSP00000359680	Q86XE5		UPI000000DAE5	NM_138413.3			1/7																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	6	97584743	97584743	C	T	1	0	0	0	0	0	0	0	1	7171	796	28	3		3	HOGA1	10	97584743	Silent	SNP	C	C3L-00009_TP	527492	97584743	36212679	197	2085											
NKX2-3	0	.	GRCh38	chr10	99535469	99535469	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgccgccgccgcCgcagcagcggcggcctacag	4	1	15	21	9	0	0	0	0	0	0	0	0	0	0	8	2	3	2	8	2	1	1	rs10082511		C3L-00009_TP	C3L-00009_NB	C	C																c.843C>A	p.=	p.A281A	ENST00000344586	2/2	89	83	6	100	100	0	strelka-varscan-mutect	NKX2-3,synonymous_variant,p.=,ENST00000344586,NM_145285.2;NKX2-3,intron_variant,,ENST00000622383,;LINC01475,upstream_gene_variant,,ENST00000548010,;	A	ENST00000344586	Transcript	synonymous_variant	1042/2097	843/1095	281/364	A	gcC/gcA	rs10082511,COSM5549373	1		1	NKX2-3	HGNC	HGNC:7836	protein_coding	YES	CCDS41558.1	ENSP00000342828	Q8TAU0		UPI00001301E8	NM_145285.2			2/2		Low_complexity_(Seg):seg											0,1						LOW		SNV	2		0,1	1										PASS		rs10082511	.												A	2	1	6	99535469	99535469	C	A	1	0	0	0	0	0	0	0	1	10487	639	23	1		1	NKX2-3	10	99535469	Silent	SNP	C	C3L-00009_TP	1950726	99535469	34261953	198	2086											
CALHM1	0	.	GRCh38	chr10	103458590	103458590	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcgccagcaggatgccCgcgctgtaggctgcattgta	6	8	16	11	3	0	0	0	0	0	0	0	1	0	1	2	4	3	6	2	4	2	3	rs377477951		C3L-00009_TP	C3L-00009_NB	C	C																c.162G>A	p.=	p.A54A	ENST00000329905	1/2	316	268	48	418	417	1	strelka-varscan-mutect	CALHM1,synonymous_variant,p.=,ENST00000329905,NM_001001412.3;RP11-225H22.4,intron_variant,,ENST00000411906,;	T	ENST00000329905	Transcript	synonymous_variant	299/3053	162/1041	54/346	A	gcG/gcA	rs377477951,COSM4011394	1		-1	CALHM1	HGNC	HGNC:23494	protein_coding	YES	CCDS7550.1	ENSP00000329926	Q8IU99		UPI000016144D	NM_001001412.3			1/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR32261,hmmpanther:PTHR32261:SF2,Pfam_domain:PF14798											0,1						LOW	1	SNV	1		0,1	1										PASS		rs377477951	.												T	2	4	6	103458590	103458590	C	T	1	0	0	0	0	0	0	0	1	2272	639	23	1		1	CALHM1	10	103458590	Silent	SNP	C	C3L-00009_TP	3923121	103458590	30338832	199	2087											
ADD3	0	.	GRCh38	chr10	110124107	110124107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatcccagcaactgtgactGctttttcctttgaagacgat	11	13	7	10	1	0	3	0	2	0	1	2	4	2	3	2	0	3	2	2	0	3	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1234G>A	p.Ala412Thr	p.A412T	ENST00000356080	10/15	293	276	17	404	404	0	strelka-varscan-mutect	ADD3,missense_variant,p.Ala412Thr,ENST00000277900,NM_001121.2;ADD3,missense_variant,p.Ala412Thr,ENST00000360162,NM_019903.3;ADD3,missense_variant,p.Ala412Thr,ENST00000356080,NM_016824.3;ADD3,non_coding_transcript_exon_variant,,ENST00000472568,;ADD3,non_coding_transcript_exon_variant,,ENST00000488837,;ADD3,non_coding_transcript_exon_variant,,ENST00000486014,;ADD3,upstream_gene_variant,,ENST00000479805,;ADD3,upstream_gene_variant,,ENST00000488799,;ADD3,downstream_gene_variant,,ENST00000488104,;ADD3,upstream_gene_variant,,ENST00000492162,;	A	ENST00000356080	Transcript	missense_variant	1601/3081	1234/2121	412/706	A/T	Gct/Act		1		1	ADD3	HGNC	HGNC:245	protein_coding	YES	CCDS7561.1	ENSP00000348381	Q9UEY8	Q5VU08	UPI0000125505	NM_016824.3	tolerated(0.06)		10/15		hmmpanther:PTHR10672:SF5,hmmpanther:PTHR10672																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	110124107	110124107	G	A	1	0	0	0	0	1	0	0	0	350	1319	46	3		3	ADD3	10	110124107	Missense_Mutation	SNP	G	C3L-00009_TP	6665517	110124107	23673315	200	2088											
MXI1	0	.	GRCh38	chr10	110208025	110208025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacacttttctgcagaacGtgcagattctgctcgaggcc	9	11	9	12	2	3	2	1	0	2	2	4	3	3	2	1	1	5	3	1	1	2	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.217G>T	p.Val73Leu	p.V73L	ENST00000332674	1/6	434	400	34	570	570	0	strelka-varscan-mutect	MXI1,missense_variant,p.Val73Leu,ENST00000332674,NM_130439.3;MXI1,missense_variant,p.Val73Leu,ENST00000453116,;MXI1,upstream_gene_variant,,ENST00000361248,NM_001008541.1;RP11-549L6.3,non_coding_transcript_exon_variant,,ENST00000451656,;	T	ENST00000332674	Transcript	missense_variant	421/3470	217/888	73/295	V/L	Gtg/Ttg		1		1	MXI1	HGNC	HGNC:7534	protein_coding	YES	CCDS7563.1	ENSP00000331152	P50539		UPI0000376B16	NM_130439.3	tolerated(0.26)		1/6		hmmpanther:PTHR11969:SF13,hmmpanther:PTHR11969																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	110208025	110208025	G	T	1	0	0	0	0	1	0	0	0	10001	1145	40	1		1	MXI1	10	110208025	Missense_Mutation	SNP	G	C3L-00009_TP	83918	110208025	23589397	201	2089											
SMNDC1	0	.	GRCh38	chr10	110297644	110297644	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggttcaacagtggagtCacttcagcattgccataacc	11	11	9	10	0	3	1	3	1	0	0	3	2	3	2	2	2	4	2	2	2	2	5	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.348G>T	p.=	p.V116V	ENST00000369603	4/6	221	201	20	248	248	0	strelka-varscan-mutect	SMNDC1,synonymous_variant,p.=,ENST00000369603,NM_005871.3;SMNDC1,synonymous_variant,p.=,ENST00000369592,;SMNDC1,non_coding_transcript_exon_variant,,ENST00000471297,;SMNDC1,non_coding_transcript_exon_variant,,ENST00000460483,;SMNDC1,downstream_gene_variant,,ENST00000477763,;	A	ENST00000369603	Transcript	synonymous_variant	552/4341	348/717	116/238	V	gtG/gtT		1		-1	SMNDC1	HGNC	HGNC:16900	protein_coding	YES	CCDS7565.1	ENSP00000358616	O75940		UPI000006D4F3	NM_005871.3			4/6		PROSITE_profiles:PS50304,hmmpanther:PTHR13681:SF24,hmmpanther:PTHR13681,Gene3D:2.30.30.140,Pfam_domain:PF06003,SMART_domains:SM00333,Superfamily_domains:SSF63748																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	6	110297644	110297644	C	A	1	0	0	0	0	0	0	0	1	15120	813	29	2		2	SMNDC1	10	110297644	Silent	SNP	C	C3L-00009_TP	89619	110297644	23499778	202	2090											
C10orf82	0	.	GRCh38	chr10	116664948	116664948	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctttacatatttgcattCtgtaaaaagacaccatggca	13	15	5	8	0	2	1	0	0	2	1	2	1	2	1	1	1	2	3	1	1	5	7	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.275-1G>A		p.X92_splice	ENST00000369210		80	75	5	112	112	0	strelka-varscan-mutect	C10orf82,splice_acceptor_variant,,ENST00000369210,NM_144661.2;C10orf82,splice_acceptor_variant,,ENST00000588184,;C10orf82,non_coding_transcript_exon_variant,,ENST00000588224,;C10orf82,non_coding_transcript_exon_variant,,ENST00000467153,;	T	ENST00000369210	Transcript	splice_acceptor_variant	-/994	275/465	92/154				1		-1	C10orf82	HGNC	HGNC:28500	protein_coding	YES	CCDS7596.1	ENSP00000358212	Q8WW14		UPI000006DC12	NM_144661.2				3/4																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	6	116664948	116664948	C	T	1	0	0	0	0	0	0	1	0	1771	927	32	3		3	C10orf82	10	116664948	Splice_Site	SNP	C	C3L-00009_TP	6367304	116664948	17132474	203	2091											
SLC18A2	0	.	GRCh38	chr10	117255342	117255342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggctccgttcctggtgctgGccgccctggtactcttggat	2	12	13	14	3	1	0	0	0	1	0	3	1	3	1	4	5	2	4	4	5	1	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.766G>T	p.Ala256Ser	p.A256S	ENST00000298472	7/16	298	262	36	427	427	0	strelka-varscan-mutect	SLC18A2,missense_variant,p.Ala256Ser,ENST00000298472,NM_003054.4;SLC18A2,non_coding_transcript_exon_variant,,ENST00000497497,;	T	ENST00000298472	Transcript	missense_variant	909/3852	766/1545	256/514	A/S	Gcc/Tcc		1		1	SLC18A2	HGNC	HGNC:10935	protein_coding	YES	CCDS7599.1	ENSP00000298472	Q05940		UPI00001389DE	NM_003054.4	tolerated(0.12)		7/16		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR23506,hmmpanther:PTHR23506:SF8,Low_complexity_(Seg):seg,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	117255342	117255342	G	T	1	0	0	0	0	1	0	0	0	14691	1203	42	2		2	SLC18A2	10	117255342	Missense_Mutation	SNP	G	C3L-00009_TP	590394	117255342	16542080	204	2092											
BAG3	0	.	GRCh38	chr10	119677050	119677050	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacttgaacagaaagccaTtgatgtcccaggtcaagtcc	15	8	8	10	0	1	3	1	2	0	1	3	3	3	3	3	1	3	0	3	1	5	2	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.1496T>G	p.Ile499Ser	p.I499S	ENST00000369085	4/4	550	494	56	715	714	1	strelka-varscan-mutect	BAG3,missense_variant,p.Ile499Ser,ENST00000369085,NM_004281.3;BAG3,downstream_gene_variant,,ENST00000450186,;	G	ENST00000369085	Transcript	missense_variant	1802/2571	1496/1728	499/575	I/S	aTt/aGt		1		1	BAG3	HGNC	HGNC:939	protein_coding	YES	CCDS7615.1	ENSP00000358081	O95817		UPI0000000C7A	NM_004281.3	tolerated(0.65)		4/4		hmmpanther:PTHR12329,hmmpanther:PTHR12329:SF12,Superfamily_domains:SSF63491																	MODERATE	1	SNV	1			1										PASS		rs1405717595	.												G	3	3	6	119677050	119677050	T	G	1	0	0	0	0	1	0	0	0	1446	1493	52	5		5	BAG3	10	119677050	Missense_Mutation	SNP	T	C3L-00009_TP	2421708	119677050	14120372	205	2093											
BTBD16	0	.	GRCh38	chr10	122334917	122334917	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaacgattgctctatatGgattcttctttaagataaag	14	14	7	6	2	3	1	0	0	3	1	3	4	3	2	0	1	2	1	0	1	7	8			C3L-00009_TP	C3L-00009_NB	G	G																c.1201G>T	p.Gly401Ter	p.G401*	ENST00000260723	14/16	154	133	21	167	167	0	strelka-varscan-mutect	BTBD16,stop_gained,p.Gly401Ter,ENST00000260723,NM_001318189.1,NM_144587.2;BTBD16,non_coding_transcript_exon_variant,,ENST00000495370,;	T	ENST00000260723	Transcript	stop_gained	1452/1849	1201/1521	401/506	G/*	Gga/Tga	COSM4396444	1		1	BTBD16	HGNC	HGNC:26340	protein_coding	YES	CCDS31301.1	ENSP00000260723	Q32M84		UPI00003CEFB9	NM_001318189.1,NM_144587.2			14/16		hmmpanther:PTHR23231,hmmpanther:PTHR23231:SF4											1						HIGH	1	SNV	2		1	1										PASS		.	.												T	4	4	6	122334917	122334917	G	T	1	0	0	0	0	0	1	0	0	1715	1349	47	2		2	BTBD16	10	122334917	Nonsense_Mutation	SNP	G	C3L-00009_TP	2657867	122334917	11462505	206	2094											
OR2AG1	0	.	GRCh38	chr11	6785517	6785517	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagtgccctaatatatacCgtgtataccatgcactatcc	12	12	5	12	1	0	0	0	0	0	0	1	0	1	0	4	0	4	2	4	0	8	8			C3L-00009_TP	C3L-00009_NB	C	C																c.480C>G	p.=	p.T160T	ENST00000307401	1/1	250	227	23	381	381	0	strelka-varscan-mutect	OR2AG1,synonymous_variant,p.=,ENST00000307401,NM_001004489.2;	G	ENST00000307401	Transcript	synonymous_variant	501/998	480/951	160/316	T	acC/acG	COSM237888	1		1	OR2AG1	HGNC	HGNC:15142	protein_coding	YES	CCDS31414.1	ENSP00000307447	Q9H205	A0A126GVD0	UPI00000015AF	NM_001004489.2			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF267,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						LOW	1	SNV			1	1										PASS		rs930003422	.												G	2	3	6	6785517	6785517	C	G	1	0	0	0	0	0	0	0	1	11061	639	23	4		4	OR2AG1	11	6785517	Silent	SNP	C	C3L-00009_TP		6785517	128301105	207	2095											
TUB	0	.	GRCh38	chr11	8097351	8097351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcaaatgccgcatcactCgggacaagaaagggatggac	14	5	11	11	2	2	1	2	0	0	1	3	4	2	4	2	3	1	1	2	3	3	0	rs766908413		C3L-00009_TP	C3L-00009_NB	C	C																c.976C>T	p.Arg326Trp	p.R326W	ENST00000305253	8/13	495	452	43	674	674	0	strelka-varscan-mutect	TUB,missense_variant,p.Arg326Trp,ENST00000305253,NM_003320.4;TUB,missense_variant,p.Arg271Trp,ENST00000299506,NM_177972.2;TUB,missense_variant,p.Arg277Trp,ENST00000534099,;	T	ENST00000305253	Transcript	missense_variant	1217/6420	976/1686	326/561	R/W	Cgg/Tgg	rs766908413	1		1	TUB	HGNC	HGNC:12406	protein_coding	YES	CCDS7786.1	ENSP00000305426	P50607		UPI000013EA27	NM_003320.4	deleterious(0)		8/13		Gene3D:3c5nA00,Pfam_domain:PF01167,hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF20,Superfamily_domains:SSF54518																	MODERATE	1	SNV	1			1										PASS		rs766908413	.												T	3	4	6	8097351	8097351	C	T	1	0	0	0	0	1	0	0	0	17252	875	31	1		1	TUB	11	8097351	Missense_Mutation	SNP	C	C3L-00009_TP	1311834	8097351	126989271	208	2096											
DENND5A	0	.	GRCh38	chr11	9203776	9203776	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtcaaataggggaagcTcattggtacttggtctctgg	11	11	13	6	0	3	0	2	0	1	0	4	2	3	1	0	5	2	2	0	5	5	4	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.833A>T	p.Glu278Val	p.E278V	ENST00000328194	4/23	332	293	39	474	473	1	strelka-varscan-mutect	DENND5A,missense_variant,p.Glu278Val,ENST00000328194,NM_015213.3;DENND5A,missense_variant,p.Glu278Val,ENST00000530044,NM_001243254.1;DENND5A,missense_variant,p.Glu254Val,ENST00000526707,;DENND5A,non_coding_transcript_exon_variant,,ENST00000532696,;DENND5A,downstream_gene_variant,,ENST00000530780,;	A	ENST00000328194	Transcript	missense_variant	1154/5031	833/3864	278/1287	E/V	gAg/gTg		1		-1	DENND5A	HGNC	HGNC:19344	protein_coding	YES	CCDS31423.1	ENSP00000328524	Q6IQ26		UPI00001C1F29	NM_015213.3	deleterious(0)		4/23		PROSITE_profiles:PS50211,hmmpanther:PTHR10877:SF109,hmmpanther:PTHR10877,Pfam_domain:PF02141,SMART_domains:SM00799																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	9203776	9203776	T	A	1	0	0	0	0	1	0	0	0	4240	1551	54	4		4	DENND5A	11	9203776	Missense_Mutation	SNP	T	C3L-00009_TP	1106425	9203776	125882846	209	2097											
SLC17A6	0	.	GRCh38	chr11	22359453	22359453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttacctctaccctaaatAtgctaattccatcagcagcc	11	13	3	14	0	3	0	1	0	2	0	4	0	4	0	4	0	5	2	4	0	6	7	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.499A>G	p.Met167Val	p.M167V	ENST00000263160	4/12	136	120	16	196	196	0	strelka-varscan-mutect	SLC17A6,missense_variant,p.Met167Val,ENST00000263160,NM_020346.2;CTD-2140G10.4,downstream_gene_variant,,ENST00000534543,;SLC17A6,non_coding_transcript_exon_variant,,ENST00000534115,;	G	ENST00000263160	Transcript	missense_variant	936/3949	499/1749	167/582	M/V	Atg/Gtg		1		1	SLC17A6	HGNC	HGNC:16703	protein_coding	YES	CCDS7856.1	ENSP00000263160	Q9P2U8		UPI0000073F14	NM_020346.2	deleterious(0.05)		4/12		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF201,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	6	22359453	22359453	A	G	1	0	0	0	0	1	0	0	0	14686	449	16	5		5	SLC17A6	11	22359453	Missense_Mutation	SNP	A	C3L-00009_TP	13155677	22359453	112727169	210	2098											
CHST1	0	.	GRCh38	chr11	45649952	45649952	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgggccacgtggctgtcCagcgggatgcccaggaaccc	7	4	15	15	3	0	0	0	0	0	0	1	2	1	2	4	4	4	1	4	4	1	0	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.972G>T	p.=	p.L324L	ENST00000308064	4/4	241	213	28	336	336	0	strelka-varscan-mutect	CHST1,synonymous_variant,p.=,ENST00000308064,NM_003654.5;RP11-495O11.1,upstream_gene_variant,,ENST00000525563,;CHST1,upstream_gene_variant,,ENST00000533673,;CHST1,downstream_gene_variant,,ENST00000531322,;	A	ENST00000308064	Transcript	synonymous_variant	1643/2718	972/1236	324/411	L	ctG/ctT		1		-1	CHST1	HGNC	HGNC:1969	protein_coding	YES	CCDS7913.1	ENSP00000309270	O43916		UPI0000073EA0	NM_003654.5			4/4		hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF36,Pfam_domain:PF00685,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs1290815465	.												A	2	1	6	45649952	45649952	C	A	1	0	0	0	0	0	0	0	1	3157	581	21	2		2	CHST1	11	45649952	Silent	SNP	C	C3L-00009_TP	23290499	45649952	89436670	211	2099											
FOLH1	0	.	GRCh38	chr11	49156760	49156760	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcctgaagcaattccaagtCgttggaagaacacctcaaaa	15	8	8	10	1	1	2	1	1	0	1	3	3	2	3	3	1	3	2	3	1	7	2			C3L-00009_TP	C3L-00009_NB	C	C																c.1580G>C	p.Arg527Pro	p.R527P	ENST00000256999	15/19	170	159	11	229	229	0	varscan-mutect	FOLH1,missense_variant,p.Arg512Pro,ENST00000340334,NM_001193471.1;FOLH1,missense_variant,p.Arg527Pro,ENST00000256999,NM_004476.1;FOLH1,missense_variant,p.Arg527Pro,ENST00000356696,NM_001014986.1;FOLH1,missense_variant,p.Arg219Pro,ENST00000343844,NM_001193473.1;FOLH1,missense_variant,p.Arg512Pro,ENST00000533034,NM_001193472.1;FOLH1,3_prime_UTR_variant,,ENST00000525826,;FOLH1,non_coding_transcript_exon_variant,,ENST00000458311,;FOLH1,upstream_gene_variant,,ENST00000532018,;	G	ENST00000256999	Transcript	missense_variant	1841/2635	1580/2253	527/750	R/P	cGa/cCa	COSM1321653	1		-1	FOLH1	HGNC	HGNC:3788	protein_coding	YES	CCDS7946.1	ENSP00000256999	Q04609		UPI0000000A01	NM_004476.1	deleterious(0.01)		15/19		Gene3D:3.40.630.10,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF36,Superfamily_domains:SSF53187											1						MODERATE	1	SNV	1		1	1										PASS		rs1262353651	.												G	3	3	6	49156760	49156760	C	G	1	0	0	0	0	1	0	0	0	5840	884	31	4		4	FOLH1	11	49156760	Missense_Mutation	SNP	C	C3L-00009_TP	3506808	49156760	85929862	212	2100											
OR5T3	0	.	GRCh38	chr11	56252958	56252958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgatttcattctgttGtccattctgaagatgcattc	7	18	7	9	0	3	3	1	2	2	1	6	3	5	3	2	0	1	2	2	0	1	5	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.759G>T	p.Leu253Phe	p.L253F	ENST00000303059	1/1	200	176	24	313	313	0	strelka-varscan-mutect	OR5T3,missense_variant,p.Leu253Phe,ENST00000303059,NM_001004747.1;	T	ENST00000303059	Transcript	missense_variant	759/1023	759/1023	253/340	L/F	ttG/ttT		1		1	OR5T3	HGNC	HGNC:15297	protein_coding	YES	CCDS31524.1	ENSP00000305403	Q8NGG3		UPI0000061E96	NM_001004747.1	tolerated(0.16)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	6	56252958	56252958	G	T	1	0	0	0	0	1	0	0	0	11251	1368	48	2		2	OR5T3	11	56252958	Missense_Mutation	SNP	G	C3L-00009_TP	7096198	56252958	78833664	213	2101											
OR5M11	0	.	GRCh38	chr11	56543149	56543149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttgcctagcagggtgaCgaggtaaacaaccagaaaca	15	5	12	9	1	0	2	0	1	0	1	0	3	0	2	2	3	5	3	2	3	5	3	rs772024624		C3L-00009_TP	C3L-00009_NB	C	C																c.109G>T	p.Val37Phe	p.V37F	ENST00000528616	1/1	209	190	19	310	309	1	strelka-varscan-mutect	OR5M11,missense_variant,p.Val37Phe,ENST00000528616,NM_001005245.1;	A	ENST00000528616	Transcript	missense_variant	109/918	109/918	37/305	V/F	Gtc/Ttc	rs772024624,COSM1354670	1		-1	OR5M11	HGNC	HGNC:15291	protein_coding	YES	CCDS53629.1	ENSP00000432417	Q96RB7	A0A126GVL9	UPI00000405CF	NM_001005245.1	tolerated(0.16)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF97,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV			0,1	1										PASS		rs772024624	.												A	3	1	6	56543149	56543149	C	A	1	0	0	0	0	1	0	0	0	11243	536	19	1		1	OR5M11	11	56543149	Missense_Mutation	SNP	C	C3L-00009_TP	290191	56543149	78543473	214	2102											
OR5B2	0	.	GRCh38	chr11	58422480	58422480	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccatggagtggctggagCtgggctgcaagtagatgaag	9	9	17	6	0	0	2	0	1	0	1	1	4	1	4	1	4	2	5	1	4	3	1	rs140988128		C3L-00009_TP	C3L-00009_NB	C	C																c.782G>T	p.Ser261Ile	p.S261I	ENST00000302581	1/1	273	233	40	341	341	0	strelka-varscan-mutect	OR5B2,missense_variant,p.Ser261Ile,ENST00000302581,NM_001005566.2;	A	ENST00000302581	Transcript	missense_variant	834/1049	782/930	261/309	S/I	aGc/aTc	rs140988128	1		-1	OR5B2	HGNC	HGNC:8323	protein_coding	YES	CCDS31550.1	ENSP00000303076	Q96R09		UPI000004B227	NM_001005566.2	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF3,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs140988128	.												A	3	1	6	58422480	58422480	C	A	1	0	0	0	0	1	0	0	0	11221	797	28	2		2	OR5B2	11	58422480	Missense_Mutation	SNP	C	C3L-00009_TP	1879331	58422480	76664142	215	2103											
LPXN	0	.	GRCh38	chr11	58570571	58570571	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaccggcaagggacttgtGttatcctgaatagaaaggat	12	12	11	6	1	0	2	0	1	0	1	1	4	1	4	2	3	1	2	2	3	6	5	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.171C>T	p.=	p.N57N	ENST00000528954	2/9	110	104	6	104	104	0	strelka-varscan-mutect	LPXN,missense_variant,p.Thr48Ile,ENST00000528489,NM_001307951.1;LPXN,synonymous_variant,p.=,ENST00000528954,NM_001143995.1;LPXN,synonymous_variant,p.=,ENST00000395074,NM_004811.2;LPXN,synonymous_variant,p.=,ENST00000530561,;LPXN,non_coding_transcript_exon_variant,,ENST00000529915,;	A	ENST00000528954	Transcript	synonymous_variant	291/1879	171/1176	57/391	N	aaC/aaT		1		-1	LPXN	HGNC	HGNC:14061	protein_coding	YES	CCDS53635.1	ENSP00000431284	O60711		UPI00001FA7B3	NM_001143995.1			2/9		PIRSF_domain:PIRSF037881,hmmpanther:PTHR24216,hmmpanther:PTHR24216:SF23																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	6	58570571	58570571	G	A	1	0	0	0	0	0	0	0	1	8823	1368	48	3		3	LPXN	11	58570571	Silent	SNP	G	C3L-00009_TP	148091	58570571	76516051	216	2104											
MPEG1	0	.	GRCh38	chr11	59211588	59211588	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggttgtaaccctcctcGtggatctgggataacaggtg	8	11	14	8	1	1	0	0	0	1	0	3	2	2	2	2	5	2	2	2	5	2	3	rs371823995		C3L-00009_TP	C3L-00009_NB	G	G																c.1278C>G	p.His426Gln	p.H426Q	ENST00000361050	1/1	238	181	57	317	316	1	strelka-varscan-mutect	MPEG1,missense_variant,p.His426Gln,ENST00000361050,NM_001039396.1;DTX4,downstream_gene_variant,,ENST00000227451,NM_015177.1;RN7SL42P,downstream_gene_variant,,ENST00000579786,;	C	ENST00000361050	Transcript	missense_variant	1364/4442	1278/2151	426/716	H/Q	caC/caG	rs371823995,COSM5274928	1		-1	MPEG1	HGNC	HGNC:29619	protein_coding	YES	CCDS41650.1	ENSP00000354335	Q2M385		UPI0000049D9F	NM_001039396.1	tolerated(0.2)		1/1		hmmpanther:PTHR31463,hmmpanther:PTHR31463:SF4											0,1						MODERATE		SNV			0,1	1										PASS		rs371823995	.												C	3	2	6	59211588	59211588	G	C	1	0	0	0	0	1	0	0	0	9688	1136	40	4		4	MPEG1	11	59211588	Missense_Mutation	SNP	G	C3L-00009_TP	641017	59211588	75875034	217	2105											
FAT3	0	.	GRCh38	chr11	92801324	92801324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattaagcttgacaaacgcCttgaccgtgaaaccagccca	13	8	7	13	2	0	3	0	3	0	0	0	3	0	3	4	0	4	1	4	0	4	4	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.7861C>A	p.Leu2621Ile	p.L2621I	ENST00000525166	9/27	129	111	18	182	182	0	strelka-varscan-mutect	FAT3,missense_variant,p.Leu2771Ile,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Leu2621Ile,ENST00000525166,;	A	ENST00000525166	Transcript	missense_variant	7883/18699	7861/13320	2621/4439	L/I	Ctt/Att		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		deleterious(0.03)		9/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	6	92801324	92801324	C	A	1	0	0	0	0	1	0	0	0	5551	681	24	2		2	FAT3	11	92801324	Missense_Mutation	SNP	C	C3L-00009_TP	33589736	92801324	42285298	218	2106											
TRPC6	0	.	GRCh38	chr11	101473593	101473593	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaggccacaaacaccataAtgaatatgaccatgaacttg	18	8	6	9	0	0	3	0	3	0	0	0	3	0	3	3	1	2	0	3	1	7	4	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.1925T>C	p.Ile642Thr	p.I642T	ENST00000344327	7/13	237	210	27	310	310	0	strelka-varscan-mutect	TRPC6,missense_variant,p.Ile642Thr,ENST00000344327,NM_004621.5;TRPC6,missense_variant,p.Ile564Thr,ENST00000532133,;TRPC6,missense_variant,p.Ile587Thr,ENST00000360497,;TRPC6,missense_variant,p.Ile526Thr,ENST00000348423,;	G	ENST00000344327	Transcript	missense_variant	2350/4612	1925/2796	642/931	I/T	aTt/aCt		1		-1	TRPC6	HGNC	HGNC:12338	protein_coding	YES	CCDS8311.1	ENSP00000340913	Q9Y210		UPI00001374BA	NM_004621.5	tolerated(0.11)		7/13		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7,Pfam_domain:PF00520,TIGRFAM_domain:TIGR00870																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	6	101473593	101473593	A	G	1	0	0	0	0	1	0	0	0	17089	101	4	5		5	TRPC6	11	101473593	Missense_Mutation	SNP	A	C3L-00009_TP	8672269	101473593	33613029	219	2107											
OAF	0	.	GRCh38	chr11	120211375	120211375	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggtgcgccggccgagctGcgggtccgcgtgcggctgcc	2	5	19	15	8	0	0	0	0	0	0	1	1	1	0	4	4	5	2	4	4	0	0	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.96G>T	p.=	p.L32L	ENST00000328965	1/4	126	100	26	108	108	0	strelka-varscan-mutect	OAF,synonymous_variant,p.=,ENST00000328965,NM_178507.2;OAF,5_prime_UTR_variant,,ENST00000531220,;OAF,upstream_gene_variant,,ENST00000534735,;	T	ENST00000328965	Transcript	synonymous_variant	609/2525	96/822	32/273	L	ctG/ctT		1		1	OAF	HGNC	HGNC:28752	protein_coding	YES	CCDS8430.1	ENSP00000332613	Q86UD1		UPI000000DC44	NM_178507.2			1/4		Pfam_domain:PF14941,hmmpanther:PTHR13423,hmmpanther:PTHR13423:SF2,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	6	120211375	120211375	G	T	1	0	0	0	0	0	0	0	1	10876	1306	46	2		2	OAF	11	120211375	Silent	SNP	G	C3L-00009_TP	18737782	120211375	14875247	220	2108											
UBASH3B	0	.	GRCh38	chr11	122796276	122796276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgcttcgatgccaaaGgtgagttggtggtgggcctg	6	10	16	9	1	0	1	0	1	0	0	1	2	0	1	3	4	2	2	3	4	1	2	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1234G>C	p.Gly412Arg	p.G412R	ENST00000284273	8/14	77	65	12	92	92	0	strelka-varscan-mutect	UBASH3B,missense_variant,p.Gly412Arg,ENST00000284273,NM_032873.4;UBASH3B,splice_region_variant,,ENST00000530578,;UBASH3B,downstream_gene_variant,,ENST00000526493,;	C	ENST00000284273	Transcript	missense_variant,splice_region_variant	1609/6912	1234/1950	412/649	G/R	Ggc/Cgc		1		1	UBASH3B	HGNC	HGNC:29884	protein_coding	YES	CCDS31694.1	ENSP00000284273	Q8TF42		UPI0000047471	NM_032873.4	deleterious(0.02)		8/14		hmmpanther:PTHR16469,hmmpanther:PTHR16469:SF29,Gene3D:3.40.50.1240																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	122796276	122796276	G	C	1	0	0	0	0	1	0	0	0	17362	1014	35	4		4	UBASH3B	11	122796276	Missense_Mutation	SNP	G	C3L-00009_TP	2584901	122796276	12290346	221	2109											
ARHGAP32	0	.	GRCh38	chr11	128972707	128972707	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgctggtattctcttCgggggacccagaaggagggt	6	10	17	8	1	1	1	0	0	1	1	3	3	1	3	1	6	1	3	1	6	2	3	rs768865360		C3L-00009_TP	C3L-00009_NB	C	C																c.3757G>T	p.Glu1253Ter	p.E1253*	ENST00000310343	21/22	140	101	39	197	196	1	strelka-varscan-mutect	ARHGAP32,stop_gained,p.Glu1253Ter,ENST00000310343,NM_001142685.1;ARHGAP32,stop_gained,p.Glu904Ter,ENST00000392657,NM_014715.3;ARHGAP32,stop_gained,p.Glu904Ter,ENST00000527272,;ARHGAP32,3_prime_UTR_variant,,ENST00000524655,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000526162,;	A	ENST00000310343	Transcript	stop_gained	3757/10111	3757/6264	1253/2087	E/*	Gaa/Taa	rs768865360,COSM173337,COSM173338	1		-1	ARHGAP32	HGNC	HGNC:17399	protein_coding	YES	CCDS44769.1	ENSP00000310561	A7KAX9		UPI000159C61F	NM_001142685.1			21/22		hmmpanther:PTHR15729:SF9,hmmpanther:PTHR15729											0,1,1						HIGH	1	SNV	1		0,1,1	1										PASS		rs768865360	.												A	4	1	6	128972707	128972707	C	A	1	0	0	0	0	0	1	0	0	1006	893	31	1		1	ARHGAP32	11	128972707	Nonsense_Mutation	SNP	C	C3L-00009_TP	6176431	128972707	6113915	222	2110											
ATN1	0	.	GRCh38	chr12	6935832	6935832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgaaccccatccttctGtgacacccactggatatcat	9	12	6	14	0	2	2	1	2	1	0	3	3	3	3	4	1	1	1	4	1	2	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.565G>T	p.Val189Leu	p.V189L	ENST00000356654	5/10	121	108	13	134	134	0	strelka-varscan-mutect	ATN1,missense_variant,p.Val189Leu,ENST00000356654,NM_001007026.1;ATN1,missense_variant,p.Val189Leu,ENST00000396684,NM_001940.3;ATN1,upstream_gene_variant,,ENST00000537488,;ATN1,upstream_gene_variant,,ENST00000541029,;	T	ENST00000356654	Transcript	missense_variant	802/4351	565/3573	189/1190	V/L	Gtg/Ttg		1		1	ATN1	HGNC	HGNC:3033	protein_coding	YES	CCDS31734.1	ENSP00000349076	P54259		UPI000006F554	NM_001007026.1	tolerated_low_confidence(0.11)		5/10		Pfam_domain:PF03154																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	6935832	6935832	G	T	1	0	0	0	0	1	0	0	0	1263	1377	48	2		2	ATN1	12	6935832	Missense_Mutation	SNP	G	C3L-00009_TP		6935832	126339477	223	2111											
YBX3	0	.	GRCh38	chr12	10715731	10715731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcaaactctacagtttctCcatctcctacactgcgcaga	11	11	4	15	1	4	1	1	0	3	1	6	1	4	1	2	0	4	2	2	0	3	3			C3L-00009_TP	C3L-00009_NB	C	C																c.413G>T	p.Gly138Val	p.G138V	ENST00000228251	4/10	405	368	37	494	494	0	strelka-varscan-mutect	YBX3,missense_variant,p.Gly138Val,ENST00000228251,NM_003651.4;YBX3,missense_variant,p.Gly138Val,ENST00000279550,NM_001145426.1;YBX3,missense_variant,p.Gly30Val,ENST00000544622,;YBX3,non_coding_transcript_exon_variant,,ENST00000539204,;YBX3,non_coding_transcript_exon_variant,,ENST00000546298,;YBX3,non_coding_transcript_exon_variant,,ENST00000544501,;YBX3,downstream_gene_variant,,ENST00000540747,;YBX3,non_coding_transcript_exon_variant,,ENST00000540447,;YBX3,non_coding_transcript_exon_variant,,ENST00000542002,;YBX3,non_coding_transcript_exon_variant,,ENST00000542641,;YBX3,downstream_gene_variant,,ENST00000536107,;	A	ENST00000228251	Transcript	missense_variant	614/1796	413/1119	138/372	G/V	gGa/gTa	COSM94104	1		-1	YBX3	HGNC	HGNC:2428	protein_coding	YES	CCDS8630.1	ENSP00000228251	P16989	A0A024RAQ1	UPI000013DBD6	NM_003651.4	deleterious(0)		4/10		Gene3D:2.40.50.140,Pfam_domain:PF00313,Prints_domain:PR00050,hmmpanther:PTHR11544,SMART_domains:SM00357,Superfamily_domains:SSF50249											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	6	10715731	10715731	C	A	1	0	0	0	0	1	0	0	0	18032	855	30	2		2	YBX3	12	10715731	Missense_Mutation	SNP	C	C3L-00009_TP	3779899	10715731	122559578	224	2112											
PRB2	0	.	GRCh38	chr12	11393260	11393260	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggtgggggaccttgaggtTtgttgcctccttgtgggggt	3	13	19	6	0	0	1	0	1	0	0	1	3	1	2	3	6	1	2	3	6	0	4	rs369970384		C3L-00009_TP	C3L-00009_NB	T	T																c.818A>G	p.Lys273Arg	p.K273R	ENST00000389362	3/4	136	128	8	149	148	1	varscan-mutect	PRB2,missense_variant,p.Lys273Arg,ENST00000389362,NM_006248.3;PRB1,intron_variant,,ENST00000546254,;PRB2,downstream_gene_variant,,ENST00000565533,;PRB2,downstream_gene_variant,,ENST00000545829,;	C	ENST00000389362	Transcript	missense_variant	854/1429	818/1251	273/416	K/R	aAa/aGa	rs369970384,COSM3667095,COSM3667096	1		-1	PRB2	HGNC	HGNC:9338	protein_coding	YES	CCDS41757.2	ENSP00000374013	P02812		UPI0000EE5993	NM_006248.3	tolerated(0.55)		3/4		Low_complexity_(Seg):seg,SMART_domains:SM01412											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs369970384	.												C	3	2	6	11393260	11393260	T	C	1	0	0	0	0	1	0	0	0	12574	1841	64	5		5	PRB2	12	11393260	Missense_Mutation	SNP	T	C3L-00009_TP	677529	11393260	121882049	225	2113											
GYS2	0	.	GRCh38	chr12	21580512	21580512	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgtctgaatcacagtatAgatgcctccaactgttaaaa	13	13	6	9	0	2	2	1	1	1	1	3	2	3	2	2	0	2	2	2	0	6	4	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.133T>C	p.Tyr45His	p.Y45H	ENST00000261195	2/16	401	326	75	476	476	0	strelka-varscan-mutect	GYS2,missense_variant,p.Tyr45His,ENST00000261195,NM_021957.3;	G	ENST00000261195	Transcript	missense_variant	388/3132	133/2112	45/703	Y/H	Tat/Cat		1		-1	GYS2	HGNC	HGNC:4707	protein_coding	YES	CCDS8690.1	ENSP00000261195	P54840		UPI000013D13D	NM_021957.3	tolerated(0.06)		2/16		hmmpanther:PTHR10176:SF1,hmmpanther:PTHR10176,Pfam_domain:PF05693																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	6	21580512	21580512	A	G	1	0	0	0	0	1	0	0	0	6795	420	15	5		5	GYS2	12	21580512	Missense_Mutation	SNP	A	C3L-00009_TP	10187252	21580512	111694797	226	2114											
SOX5	0	.	GRCh38	chr12	23604488	23604488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtatgcctggcagcttccCtcctggagatacctgcattg	6	11	12	12	0	0	1	0	0	0	1	2	2	2	1	4	3	4	4	4	3	2	4			C3L-00009_TP	C3L-00009_NB	C	C																c.1063G>T	p.Gly355Trp	p.G355W	ENST00000451604	9/15	233	187	46	291	291	0	strelka-varscan-mutect	SOX5,missense_variant,p.Gly342Trp,ENST00000546136,NM_152989.3;SOX5,missense_variant,p.Gly355Trp,ENST00000451604,NM_006940.4;SOX5,missense_variant,p.Gly342Trp,ENST00000381381,;SOX5,missense_variant,p.Gly320Trp,ENST00000537393,;SOX5,missense_variant,p.Gly345Trp,ENST00000545921,NM_001261415.1;SOX5,missense_variant,p.Gly342Trp,ENST00000541536,NM_001261414.1;SOX5,non_coding_transcript_exon_variant,,ENST00000535530,;SOX5,non_coding_transcript_exon_variant,,ENST00000536629,;SOX5,non_coding_transcript_exon_variant,,ENST00000542241,;SOX5,missense_variant,p.Gly345Trp,ENST00000367206,;SOX5,non_coding_transcript_exon_variant,,ENST00000536911,;	A	ENST00000451604	Transcript	missense_variant	1165/4261	1063/2292	355/763	G/W	Ggg/Tgg	COSM547555	1		-1	SOX5	HGNC	HGNC:11201	protein_coding	YES	CCDS8699.1	ENSP00000398273	P35711	A0A024RB06	UPI000007405E	NM_006940.4	deleterious(0)		9/15		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF30											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	6	23604488	23604488	C	A	1	0	0	0	0	1	0	0	0	15280	681	24	2		2	SOX5	12	23604488	Missense_Mutation	SNP	C	C3L-00009_TP	2023976	23604488	109670821	227	2115											
TMTC1	0	.	GRCh38	chr12	29755792	29755792	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcctgtctctttcaccagCatcgcacaggtccccagaaa	10	9	7	15	1	2	1	1	0	1	1	5	1	3	1	4	1	2	2	4	1	1	1	rs201140526		C3L-00009_TP	C3L-00009_NB	C	C																c.648G>T	p.Met216Ile	p.M216I	ENST00000539277	4/18	284	235	49	309	309	0	strelka-varscan-mutect	TMTC1,missense_variant,p.Met108Ile,ENST00000256062,NM_175861.3;TMTC1,missense_variant,p.Met216Ile,ENST00000551659,;TMTC1,missense_variant,p.Met216Ile,ENST00000552618,;TMTC1,missense_variant,p.Met216Ile,ENST00000539277,NM_001193451.1;TMTC1,non_coding_transcript_exon_variant,,ENST00000553189,;	A	ENST00000539277	Transcript	missense_variant	707/2758	648/2649	216/882	M/I	atG/atT	rs201140526	1		-1	TMTC1	HGNC	HGNC:24099	protein_coding	YES	CCDS53772.1	ENSP00000442046	Q8IUR5		UPI0001DD37FA	NM_001193451.1	deleterious(0.04)		4/18		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF401,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs201140526	.												A	3	1	6	29755792	29755792	C	A	1	0	0	0	0	1	0	0	0	16734	710	25	2		2	TMTC1	12	29755792	Missense_Mutation	SNP	C	C3L-00009_TP	6151304	29755792	103519517	228	2116											
OVOS2	0	.	GRCh38	chr12	31200503	31200503	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgattgccacagatctcCtctcttccaggttgagagtg	8	13	9	11	0	3	3	0	2	3	2	6	4	4	3	3	1	1	1	3	1	0	3	rs748445015		C3L-00009_TP	C3L-00009_NB	C	C																c.293G>C	p.Arg98Thr	p.R98T	ENST00000632817	3/34	121	104	17	120	120	0	strelka-varscan-mutect	OVOS2,missense_variant,p.Arg98Thr,ENST00000398963,;OVOS2,missense_variant,p.Arg98Thr,ENST00000632817,;	G	ENST00000632817	Transcript	missense_variant	293/4299	293/4299	98/1432	R/T	aGg/aCg	rs748445015	1		-1	OVOS2	Clone_based_vega_gene		protein_coding	YES		ENSP00000487815		A0A0J9YW53	UPI0001AE6AF7		deleterious(0.04)		3/34		hmmpanther:PTHR11412:SF77,hmmpanther:PTHR11412																	MODERATE	1	SNV	5			1										PASS		rs748445015	.												G	3	3	6	31200503	31200503	C	G	1	0	0	0	0	1	0	0	0	11399	681	24	4		4	OVOS2	12	31200503	Missense_Mutation	SNP	C	C3L-00009_TP	1444711	31200503	102074806	229	2117											
PKP2	0	.	GRCh38	chr12	32841139	32841139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgatattctccgtcagcGtaagcaatgcttctgttatc	9	15	8	9	2	3	2	1	2	2	0	5	2	3	2	1	0	3	4	1	0	4	5	rs146882581		C3L-00009_TP	C3L-00009_NB	G	G																c.1577C>T	p.Thr526Met	p.T526M	ENST00000070846	7/14	346	326	20	312	312	0	strelka-varscan-mutect	PKP2,missense_variant,p.Thr482Met,ENST00000340811,NM_001005242.2;PKP2,missense_variant,p.Thr526Met,ENST00000070846,NM_004572.3;	A	ENST00000070846	Transcript	missense_variant	1602/4241	1577/2646	526/881	T/M	aCg/aTg	rs146882581,CM113820	1		-1	PKP2	HGNC	HGNC:9024	protein_coding	YES	CCDS8731.1	ENSP00000070846	Q99959		UPI000013C576	NM_004572.3	tolerated(0.1)		7/14		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF25,Superfamily_domains:SSF48371										benign,likely_benign							MODERATE	1	SNV	1		1,1	1										PASS		rs146882581	.												A	3	1	6	32841139	32841139	G	A	1	0	0	0	0	1	0	0	0	12081	1145	40	1		1	PKP2	12	32841139	Missense_Mutation	SNP	G	C3L-00009_TP	1640636	32841139	100434170	230	2118											
SYT10	0	.	GRCh38	chr12	33379957	33379957	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctatgacctcattgtgtcCtaccctatgatttgtgggat	7	16	8	10	0	1	2	1	2	0	0	3	3	3	3	4	1	1	0	4	1	3	5	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.1375G>C	p.Gly459Arg	p.G459R	ENST00000228567	6/7	199	170	29	231	231	0	strelka-varscan-mutect	SYT10,missense_variant,p.Gly459Arg,ENST00000228567,NM_198992.3;SYT10,3_prime_UTR_variant,,ENST00000539102,;	G	ENST00000228567	Transcript	missense_variant	1672/4461	1375/1572	459/523	G/R	Gga/Cga		1		-1	SYT10	HGNC	HGNC:19266	protein_coding	YES	CCDS8732.1	ENSP00000228567	Q6XYQ8		UPI0000052B30	NM_198992.3	deleterious(0.01)		6/7		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF46,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	6	33379957	33379957	C	G	1	0	0	0	0	1	0	0	0	15860	695	24	4		4	SYT10	12	33379957	Missense_Mutation	SNP	C	C3L-00009_TP	538818	33379957	99895352	231	2119											
LRRK2	0	.	GRCh38	chr12	40367729	40367729	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacattgaagtgagaaaagaAttagctgaaaaaatgagacg	20	7	10	4	1	0	5	0	4	0	3	0	7	0	5	0	0	1	1	0	0	8	2	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.7548A>T	p.Glu2516Asp	p.E2516D	ENST00000298910	51/51	187	143	44	202	202	0	strelka-varscan-mutect	LRRK2,missense_variant,p.Glu2516Asp,ENST00000298910,NM_198578.3;LRRK2,missense_variant,p.Glu443Asp,ENST00000636518,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	T	ENST00000298910	Transcript	missense_variant	7606/9158	7548/7584	2516/2527	E/D	gaA/gaT		1		1	LRRK2	HGNC	HGNC:18618	protein_coding	YES	CCDS31774.1	ENSP00000298910	Q5S007		UPI00006C128E	NM_198578.3	deleterious(0)		51/51		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	40367729	40367729	A	T	1	0	0	0	0	1	0	0	0	8939	98	4	4		4	LRRK2	12	40367729	Missense_Mutation	SNP	A	C3L-00009_TP	6987772	40367729	92907580	232	2120											
ADAMTS20	0	.	GRCh38	chr12	43376600	43376600	+	Frame_Shift_Del	DEL	G	G	-																															tcactggacaaaccatgtttGgtaatgcatttcacttgtct																								novel		C3L-00009_TP	C3L-00009_NB	G	G																c.5049delC	p.Lys1684AsnfsTer10	p.K1684Nfs*10	ENST00000389420	33/39	119	101	18	148	148	0	sindel-varindel-pindel	ADAMTS20,frameshift_variant,p.Lys1684AsnfsTer10,ENST00000389420,NM_025003.3;	-	ENST00000389420	Transcript	frameshift_variant	5049/6076	5049/5733	1683/1910	T/X	acC/ac		1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3			33/39		PROSITE_profiles:PS50092,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	6	43376600	43376600	G	-	1	0	1	0	1	0	0	0	0	310	1335	47	0		0	ADAMTS20	12	43376600	Frame_Shift_Del	DEL	G	C3L-00009_TP	3008871	43376600	89898709	233	2121											
ADAMTS20	0	.	GRCh38	chr12	43399187	43399187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctttggaattggtcaatgCaaaacacttcacggtacttt	11	14	7	9	1	2	0	2	0	0	0	3	1	3	1	1	3	3	2	1	3	5	5	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.4331G>C	p.Cys1444Ser	p.C1444S	ENST00000389420	29/39	128	110	18	154	154	0	strelka-varscan-mutect	ADAMTS20,missense_variant,p.Cys1444Ser,ENST00000389420,NM_025003.3;	G	ENST00000389420	Transcript	missense_variant	4331/6076	4331/5733	1444/1910	C/S	tGc/tCc		1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3	deleterious(0)		29/39		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	6	43399187	43399187	C	G	1	0	0	0	0	1	0	0	0	310	710	25	4		4	ADAMTS20	12	43399187	Missense_Mutation	SNP	C	C3L-00009_TP	22587	43399187	89876122	234	2122											
KRT6B	0	.	GRCh38	chr12	52449523	52449523	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctgagcaatctcctcAtattgggccttgacctcagc	7	12	7	15	0	4	2	2	2	2	0	6	2	5	2	4	1	2	1	4	1	2	3	rs367709654		C3L-00009_TP	C3L-00009_NB	A	A																c.1023T>G	p.Tyr341Ter	p.Y341*	ENST00000252252	5/9	889	777	112	1024	1023	1	strelka-varscan-mutect	KRT6B,stop_gained,p.Tyr341Ter,ENST00000252252,NM_005555.3;	C	ENST00000252252	Transcript	stop_gained	1071/2282	1023/1695	341/564	Y/*	taT/taG	rs367709654	1		-1	KRT6B	HGNC	HGNC:6444	protein_coding	YES	CCDS8828.1	ENSP00000252252	P04259		UPI000013CD50	NM_005555.3			5/9		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Pfam_domain:PF00038,SMART_domains:SM01391																	HIGH	1	SNV	1			1										PASS		rs4079521	.												C	4	2	6	52449523	52449523	A	C	1	0	0	0	0	0	1	0	0	8363	224	8	5		5	KRT6B	12	52449523	Nonsense_Mutation	SNP	A	C3L-00009_TP	9050336	52449523	80825786	235	2123											
EIF4B	0	.	GRCh38	chr12	53039278	53039278	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaatgccccaaaaggccaAactgggaactctagccgtgg	13	6	11	11	1	1	1	0	1	1	0	1	2	1	2	4	3	4	0	4	3	6	1	rs576098700		C3L-00009_TP	C3L-00009_NB	A	A																c.1632A>T	p.Gln544His	p.Q544H	ENST00000420463	13/15	185	161	24	193	193	0	strelka-varscan-mutect	EIF4B,missense_variant,p.Gln539His,ENST00000262056,NM_001417.5;EIF4B,missense_variant,p.Gln500His,ENST00000416762,;EIF4B,missense_variant,p.Gln544His,ENST00000420463,NM_001300821.1;EIF4B,downstream_gene_variant,,ENST00000549481,;RP11-983P16.4,non_coding_transcript_exon_variant,,ENST00000546566,;RP11-983P16.4,intron_variant,,ENST00000552905,;RP11-983P16.4,downstream_gene_variant,,ENST00000546793,;RP11-983P16.4,downstream_gene_variant,,ENST00000550601,;RP11-983P16.4,downstream_gene_variant,,ENST00000607643,;RP11-983P16.4,downstream_gene_variant,,ENST00000546767,;EIF4B,non_coding_transcript_exon_variant,,ENST00000549592,;EIF4B,downstream_gene_variant,,ENST00000550704,;EIF4B,downstream_gene_variant,,ENST00000553209,;	T	ENST00000420463	Transcript	missense_variant	1660/1936	1632/1851	544/616	Q/H	caA/caT	rs576098700,COSM4575532	1		1	EIF4B	HGNC	HGNC:3285	protein_coding	YES	CCDS73474.1	ENSP00000388806		E7EX17	UPI0001AE6B15	NM_001300821.1	tolerated_low_confidence(0.06)		13/15		hmmpanther:PTHR23236:SF2,hmmpanther:PTHR23236											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs576098700	.												T	3	4	6	53039278	53039278	A	T	1	0	0	0	0	1	0	0	0	4861	11	1	4		4	EIF4B	12	53039278	Missense_Mutation	SNP	A	C3L-00009_TP	589755	53039278	80236031	236	2124											
MDM1	0	.	GRCh38	chr12	68321619	68321619	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattttaaacgatcgtctaTtttattactctgaaatggaa	14	16	5	6	2	2	1	0	1	2	0	3	3	2	2	0	1	2	0	0	1	8	6	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.811A>T	p.Ile271Leu	p.I271L	ENST00000303145	6/14	123	99	24	133	133	0	strelka-varscan-mutect	MDM1,missense_variant,p.Ile271Leu,ENST00000303145,NM_017440.4;MDM1,missense_variant,p.Ile226Leu,ENST00000411698,NM_001205028.1;MDM1,missense_variant,p.Ile266Leu,ENST00000541686,;MDM1,downstream_gene_variant,,ENST00000393543,NM_001205029.1;MDM1,downstream_gene_variant,,ENST00000430606,NM_020128.2;MDM1,non_coding_transcript_exon_variant,,ENST00000540476,;MDM1,downstream_gene_variant,,ENST00000545724,;MDM1,3_prime_UTR_variant,,ENST00000540418,;MDM1,non_coding_transcript_exon_variant,,ENST00000538454,;MDM1,non_coding_transcript_exon_variant,,ENST00000536997,;	A	ENST00000303145	Transcript	missense_variant	898/2918	811/2145	271/714	I/L	Ata/Tta		1		-1	MDM1	HGNC	HGNC:29917	protein_coding	YES	CCDS8983.1	ENSP00000302537	Q8TC05		UPI00001FC70C	NM_017440.4	tolerated(0.3)		6/14		hmmpanther:PTHR32078:SF1,hmmpanther:PTHR32078,Pfam_domain:PF15501																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	68321619	68321619	T	A	1	0	0	0	0	1	0	0	0	9350	1493	52	4		4	MDM1	12	68321619	Missense_Mutation	SNP	T	C3L-00009_TP	15282341	68321619	64953690	237	2125											
TPH2	0	.	GRCh38	chr12	72031557	72031557	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attacccgtcccttctcagtAtacttcaatccctacacaca	11	12	2	16	1	2	0	2	0	1	0	5	0	4	0	3	0	3	1	3	0	5	6	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.1335A>G	p.=	p.V445V	ENST00000333850	11/11	297	268	29	396	396	0	strelka-varscan-mutect	TPH2,synonymous_variant,p.=,ENST00000333850,NM_173353.3;TPH2,intron_variant,,ENST00000550403,;TPH2,intron_variant,,ENST00000547348,;TPH2,intron_variant,,ENST00000547278,;TPH2,intron_variant,,ENST00000551074,;	G	ENST00000333850	Transcript	synonymous_variant	1476/2360	1335/1473	445/490	V	gtA/gtG		1		1	TPH2	HGNC	HGNC:20692	protein_coding	YES	CCDS31859.1	ENSP00000329093	Q8IWU9		UPI000007446F	NM_173353.3			11/11		Gene3D:1.10.800.10,Pfam_domain:PF00351,PIRSF_domain:PIRSF000336,Prints_domain:PR00372,PROSITE_profiles:PS51410,hmmpanther:PTHR11473,hmmpanther:PTHR11473:SF16,Superfamily_domains:SSF56534,TIGRFAM_domain:TIGR01270																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	6	72031557	72031557	A	G	1	0	0	0	0	0	0	0	1	16883	436	16	5		5	TPH2	12	72031557	Silent	SNP	A	C3L-00009_TP	3709938	72031557	61243752	238	2126											
ANKS1B	0	.	GRCh38	chr12	98832045	98832045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccctgagggtgatggacCgagggggcttctgtggggga	6	9	19	7	1	1	2	0	2	1	0	1	5	1	4	2	6	1	1	2	6	1	2	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.2870G>T	p.Arg957Leu	p.R957L	ENST00000547776	18/26	339	273	66	358	358	0	strelka-varscan-mutect	ANKS1B,missense_variant,p.Arg957Leu,ENST00000547776,NM_152788.4;ANKS1B,missense_variant,p.Arg183Leu,ENST00000550693,NM_001204069.1;ANKS1B,missense_variant,p.Arg183Leu,ENST00000549493,NM_181670.3;ANKS1B,missense_variant,p.Arg533Leu,ENST00000547010,;ANKS1B,missense_variant,p.Arg183Leu,ENST00000549558,NM_020140.3;ANKS1B,missense_variant,p.Arg229Leu,ENST00000550778,;ANKS1B,missense_variant,p.Arg152Leu,ENST00000547446,NM_001204067.1;ANKS1B,missense_variant,p.Arg183Leu,ENST00000546960,NM_001204068.1;ANKS1B,missense_variant,p.Arg183Leu,ENST00000546568,NM_001204070.1;ANKS1B,5_prime_UTR_variant,,ENST00000341752,NM_001204081.1;ANKS1B,5_prime_UTR_variant,,ENST00000333732,NM_001204079.1,NM_001204080.1,NM_001204065.1;ANKS1B,5_prime_UTR_variant,,ENST00000546364,;ANKS1B,5_prime_UTR_variant,,ENST00000549797,;ANKS1B,5_prime_UTR_variant,,ENST00000551560,;ANKS1B,5_prime_UTR_variant,,ENST00000552407,;ANKS1B,5_prime_UTR_variant,,ENST00000552748,;ANKS1B,5_prime_UTR_variant,,ENST00000551613,;ANKS1B,5_prime_UTR_variant,,ENST00000548447,;ANKS1B,intron_variant,,ENST00000549025,NM_001204066.1;ANKS1B,non_coding_transcript_exon_variant,,ENST00000551830,;ANKS1B,5_prime_UTR_variant,,ENST00000547362,;ANKS1B,non_coding_transcript_exon_variant,,ENST00000552245,;	A	ENST00000547776	Transcript	missense_variant	2870/3885	2870/3747	957/1248	R/L	cGg/cTg		1		-1	ANKS1B	HGNC	HGNC:24600	protein_coding	YES	CCDS55872.1	ENSP00000449629	Q7Z6G8		UPI00003FE521	NM_152788.4	deleterious(0.05)		18/26		hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	98832045	98832045	C	A	1	0	0	0	0	1	0	0	0	795	652	23	1		1	ANKS1B	12	98832045	Missense_Mutation	SNP	C	C3L-00009_TP	26800488	98832045	34443264	239	2127											
MPHOSPH9	0	.	GRCh38	chr12	123218410	123218410	+	Frame_Shift_Del	DEL	C	C	-																															tcttcttactttgctcatttCcttgtttagatcttgaacct																								novel		C3L-00009_TP	C3L-00009_NB	C	C																c.962delG	p.Gly321GlufsTer44	p.G321Efs*44	ENST00000606320	6/24	190	163	27	195	195	0	sindel-varindel-pindel	MPHOSPH9,frameshift_variant,p.Gly321GlufsTer44,ENST00000606320,NM_022782.3;MPHOSPH9,frameshift_variant,p.Gly291GlufsTer44,ENST00000541076,;MPHOSPH9,frameshift_variant,p.Gly178GlufsTer44,ENST00000539336,;MPHOSPH9,downstream_gene_variant,,ENST00000541437,;MPHOSPH9,downstream_gene_variant,,ENST00000537854,;MPHOSPH9,downstream_gene_variant,,ENST00000539639,;MPHOSPH9,downstream_gene_variant,,ENST00000538169,;MPHOSPH9,frameshift_variant,p.Gly24GlufsTer44,ENST00000539024,;MPHOSPH9,frameshift_variant,p.Gly189GlufsTer44,ENST00000302373,;MPHOSPH9,3_prime_UTR_variant,,ENST00000545556,;MPHOSPH9,downstream_gene_variant,,ENST00000535049,;	-	ENST00000606320	Transcript	frameshift_variant	1169/6351	962/3552	321/1183	G/X	gGa/ga		1		-1	MPHOSPH9	HGNC	HGNC:7215	protein_coding	YES	CCDS9243.2	ENSP00000475489	Q99550		UPI00001FB90F	NM_022782.3			6/24		hmmpanther:PTHR14926,hmmpanther:PTHR14926:SF1																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	6	123218410	123218410	C	-	1	0	1	0	1	0	0	0	0	9693	855	30	0		0	MPHOSPH9	12	123218410	Frame_Shift_Del	DEL	C	C3L-00009_TP	24386365	123218410	10056899	240	2128											
TMED2	0	.	GRCh38	chr12	123584692	123584692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctctcctggccacggtctCgggctatttcgttagcatcg	4	12	11	14	5	2	0	0	0	2	0	6	0	2	0	2	3	1	4	2	3	2	3	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.56C>T	p.Ser19Leu	p.S19L	ENST00000262225	1/4	194	170	24	271	271	0	strelka-varscan-mutect	TMED2,missense_variant,p.Ser19Leu,ENST00000262225,NM_006815.3;TMED2,missense_variant,p.Ser19Leu,ENST00000438031,;TMED2,upstream_gene_variant,,ENST00000509052,;RP11-486O12.2,non_coding_transcript_exon_variant,,ENST00000498967,;TMED2,non_coding_transcript_exon_variant,,ENST00000543425,;TMED2,non_coding_transcript_exon_variant,,ENST00000544188,;	T	ENST00000262225	Transcript	missense_variant	162/2560	56/606	19/201	S/L	tCg/tTg		1		1	TMED2	HGNC	HGNC:16996	protein_coding	YES	CCDS9250.1	ENSP00000262225	Q15363	Q6FHT8	UPI0000001296	NM_006815.3	tolerated(0.53)		1/4		Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR22811,hmmpanther:PTHR22811:SF53																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	123584692	123584692	C	T	1	0	0	0	0	1	0	0	0	16449	893	31	1		1	TMED2	12	123584692	Missense_Mutation	SNP	C	C3L-00009_TP	366282	123584692	9690617	241	2129											
TCTN2	0	.	GRCh38	chr12	123707002	123707002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagattccagatcaattataCagagtatgactgcaacagaa	17	10	7	7	0	1	5	1	1	0	4	2	5	2	5	1	0	3	2	1	0	7	5	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.1913C>T	p.Thr638Ile	p.T638I	ENST00000303372	17/18	361	320	41	465	465	0	strelka-varscan-mutect	TCTN2,missense_variant,p.Thr638Ile,ENST00000303372,NM_024809.4;TCTN2,missense_variant,p.Thr637Ile,ENST00000426174,NM_001143850.2;RP11-338K17.8,downstream_gene_variant,,ENST00000538837,;TCTN2,non_coding_transcript_exon_variant,,ENST00000543998,;	T	ENST00000303372	Transcript	missense_variant	2041/2912	1913/2094	638/697	T/I	aCa/aTa		1		1	TCTN2	HGNC	HGNC:25774	protein_coding	YES	CCDS9253.1	ENSP00000304941	Q96GX1		UPI0000038A56	NM_024809.4	deleterious(0)		17/18		hmmpanther:PTHR14611,hmmpanther:PTHR14611:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	123707002	123707002	C	T	1	0	0	0	0	1	0	0	0	16131	478	17	3		3	TCTN2	12	123707002	Missense_Mutation	SNP	C	C3L-00009_TP	122310	123707002	9568307	242	2130											
TMEM132D	0	.	GRCh38	chr12	129074239	129074239	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcttgcgaggaggcaaagTtgatgtgattctccaacagc	11	10	11	9	1	2	2	0	2	2	0	3	4	2	3	1	2	3	2	1	2	2	3	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.2936A>T	p.Asn979Ile	p.N979I	ENST00000422113	9/9	215	193	22	324	324	0	strelka-varscan-mutect	TMEM132D,missense_variant,p.Asn979Ile,ENST00000422113,NM_133448.2;TMEM132D,missense_variant,p.Asn517Ile,ENST00000389441,;	A	ENST00000422113	Transcript	missense_variant	3263/5776	2936/3300	979/1099	N/I	aAc/aTc		1		-1	TMEM132D	HGNC	HGNC:29411	protein_coding	YES	CCDS9266.1	ENSP00000408581	Q14C87		UPI000023759C	NM_133448.2	deleterious(0.01)		9/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF2																	MODERATE	1	SNV	1			1										PASS		rs771741034	.												A	3	1	6	129074239	129074239	T	A	1	0	0	0	0	1	0	0	0	16492	1725	60	4		4	TMEM132D	12	129074239	Missense_Mutation	SNP	T	C3L-00009_TP	5367237	129074239	4201070	243	2131											
ANHX	0	.	GRCh38	chr12	133234111	133234111	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagcccaggcctacctcCaggaggcggcaagccgcctg	7	5	13	16	2	0	0	0	0	0	0	1	1	1	1	6	4	3	2	6	4	3	2	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.246G>T	p.=	p.L82L	ENST00000545940	1/8	179	166	13	230	229	1	strelka-varscan-mutect	ANHX,synonymous_variant,p.=,ENST00000545940,;ANHX,synonymous_variant,p.=,ENST00000419717,NM_001191054.1;RNU6-717P,downstream_gene_variant,,ENST00000459076,;Y_RNA,upstream_gene_variant,,ENST00000459107,;	A	ENST00000545940	Transcript	synonymous_variant	1985/3452	246/1140	82/379	L	ctG/ctT		1		-1	ANHX	HGNC	HGNC:40024	protein_coding	YES	CCDS53855.1	ENSP00000439513	E9PGG2		UPI0001AE6BD3				1/8		hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF34,Pfam_domain:PF16878																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	6	133234111	133234111	C	A	1	0	0	0	0	0	0	0	1	719	608	21	2		2	ANHX	12	133234111	Silent	SNP	C	C3L-00009_TP	4159872	133234111	41198	244	2132											
FRY	0	.	GRCh38	chr13	32210987	32210987	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcattgtgacaacccgcCcttctaccgcttcacggcca	8	8	7	18	3	2	1	1	1	1	0	2	1	2	1	5	1	3	2	5	1	2	4	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.4544C>A	p.Pro1515His	p.P1515H	ENST00000542859	34/61	184	173	11	299	299	0	strelka-varscan-mutect	FRY,missense_variant,p.Pro1515His,ENST00000542859,NM_023037.2;FRY,missense_variant,p.Pro1514His,ENST00000380250,;	A	ENST00000542859	Transcript	missense_variant	5040/13200	4544/9042	1515/3013	P/H	cCc/cAc		1		1	FRY	HGNC	HGNC:20367	protein_coding	YES	CCDS41875.1	ENSP00000445043	Q5TBA9		UPI000046FD40	NM_023037.2	deleterious(0)		34/61		hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	6	32210987	32210987	C	A	1	0	0	0	0	1	0	0	0	5935	623	22	2		2	FRY	13	32210987	Missense_Mutation	SNP	C	C3L-00009_TP		32210987	82153341	245	2133											
KLHL1	0	.	GRCh38	chr13	69740427	69740427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctacaccaactgtgctcCgagcaattgacatactggct	10	10	8	13	1	0	1	0	1	0	0	1	2	1	1	2	1	6	4	2	1	4	3	rs748882149		C3L-00009_TP	C3L-00009_NB	C	C																c.1769G>C	p.Arg590Pro	p.R590P	ENST00000377844	8/11	110	96	14	173	173	0	strelka-varscan-mutect	KLHL1,missense_variant,p.Arg590Pro,ENST00000377844,NM_020866.2;KLHL1,missense_variant,p.Arg529Pro,ENST00000545028,NM_001286725.1;	G	ENST00000377844	Transcript	missense_variant	2529/4115	1769/2247	590/748	R/P	cGg/cCg	rs748882149,COSM3469504,COSM393237	1		-1	KLHL1	HGNC	HGNC:6352	protein_coding	YES	CCDS9445.1	ENSP00000367075	Q9NR64		UPI000004B136	NM_020866.2	deleterious(0)		8/11		hmmpanther:PTHR24412:SF75,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1k3iA02,SMART_domains:SM00612,Superfamily_domains:0052715											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs748882149	.												G	3	3	6	69740427	69740427	C	G	1	0	0	0	0	1	0	0	0	8229	652	23	4		4	KLHL1	13	69740427	Missense_Mutation	SNP	C	C3L-00009_TP	37529440	69740427	44623901	246	2134											
KLF12	0	.	GRCh38	chr13	73846003	73846003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttgaaggcggtacgggaTggataatgtgcaaaaactgc	13	8	14	6	2	0	1	0	1	0	0	0	4	0	3	0	4	4	2	0	4	5	3	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.494A>G	p.His165Arg	p.H165R	ENST00000377669	3/7	158	137	21	257	257	0	strelka-varscan-mutect	KLF12,missense_variant,p.His165Arg,ENST00000377669,NM_007249.4;RP11-157H4.1,upstream_gene_variant,,ENST00000625150,;KLF12,non_coding_transcript_exon_variant,,ENST00000472022,;	C	ENST00000377669	Transcript	missense_variant	521/10637	494/1209	165/402	H/R	cAt/cGt		1		-1	KLF12	HGNC	HGNC:6346	protein_coding	YES	CCDS9449.1	ENSP00000366897	Q9Y4X4		UPI000013D144	NM_007249.4	deleterious(0)		3/7																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	73846003	73846003	T	C	1	0	0	0	0	1	0	0	0	8205	1464	51	5		5	KLF12	13	73846003	Missense_Mutation	SNP	T	C3L-00009_TP	4105576	73846003	40518325	247	2135											
NALCN	0	.	GRCh38	chr13	101191963	101191963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaaatagatggcaaccacgGgtgcccacatatgtcccaca	13	7	9	12	1	0	2	0	1	0	1	1	2	1	2	3	2	2	1	3	2	4	2	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1718C>A	p.Pro573His	p.P573H	ENST00000251127	14/44	132	117	15	169	169	0	strelka-varscan-mutect	NALCN,missense_variant,p.Pro573His,ENST00000251127,NM_052867.2;NALCN,non_coding_transcript_exon_variant,,ENST00000470333,;NALCN,non_coding_transcript_exon_variant,,ENST00000497170,;	T	ENST00000251127	Transcript	missense_variant	1800/6818	1718/5217	573/1738	P/H	cCc/cAc		1		-1	NALCN	HGNC	HGNC:19082	protein_coding	YES	CCDS9498.1	ENSP00000251127	Q8IZF0	A0A024RE05	UPI000004EBBD	NM_052867.2	deleterious(0)		14/44		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF214,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	101191963	101191963	G	T	1	0	0	0	0	1	0	0	0	10155	1232	43	2		2	NALCN	13	101191963	Missense_Mutation	SNP	G	C3L-00009_TP	27345960	101191963	13172365	248	2136											
TMEM255B	0	.	GRCh38	chr13	113801713	113801713	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcggctgccaggacgtgctGcacctgtaccgcctgctctg	5	8	13	15	3	1	0	0	0	1	0	1	1	1	1	4	2	6	5	4	2	1	1			C3L-00009_TP	C3L-00009_NB	G	G																c.570G>A	p.=	p.L190L	ENST00000375353	7/9	151	136	15	179	179	0	strelka-mutect	TMEM255B,synonymous_variant,p.=,ENST00000375353,NM_182614.2;TMEM255B,downstream_gene_variant,,ENST00000488362,;TMEM255B,non_coding_transcript_exon_variant,,ENST00000498692,;TMEM255B,upstream_gene_variant,,ENST00000467169,;TMEM255B,downstream_gene_variant,,ENST00000375348,;	A	ENST00000375353	Transcript	synonymous_variant	597/6100	570/981	190/326	L	ctG/ctA	COSM1721220	1		1	TMEM255B	HGNC	HGNC:28297	protein_coding	YES	CCDS45071.1	ENSP00000364502	Q8WV15		UPI0000071C2C	NM_182614.2			7/9		hmmpanther:PTHR33721:SF3,hmmpanther:PTHR33721,Pfam_domain:PF14967											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	6	113801713	113801713	G	A	1	0	0	0	0	0	0	0	1	16615	1306	46	3		3	TMEM255B	13	113801713	Silent	SNP	G	C3L-00009_TP	12609750	113801713	562615	249	2137											
TMEM255B	0	.	GRCh38	chr13	113801800	113801800	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgccgccgtcctgggggcCttcaaggacatggtgaggcc	6	6	15	14	3	1	1	1	1	0	0	2	2	2	2	6	5	0	0	6	5	1	1	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.657C>A	p.=	p.A219A	ENST00000375353	7/9	84	72	12	108	108	0	strelka-varscan-mutect	TMEM255B,synonymous_variant,p.=,ENST00000375353,NM_182614.2;TMEM255B,downstream_gene_variant,,ENST00000488362,;TMEM255B,non_coding_transcript_exon_variant,,ENST00000498692,;TMEM255B,upstream_gene_variant,,ENST00000467169,;TMEM255B,downstream_gene_variant,,ENST00000375348,;	A	ENST00000375353	Transcript	synonymous_variant	684/6100	657/981	219/326	A	gcC/gcA		1		1	TMEM255B	HGNC	HGNC:28297	protein_coding	YES	CCDS45071.1	ENSP00000364502	Q8WV15		UPI0000071C2C	NM_182614.2			7/9		hmmpanther:PTHR33721:SF3,hmmpanther:PTHR33721,Pfam_domain:PF14967																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	6	113801800	113801800	C	A	1	0	0	0	0	0	0	0	1	16615	668	24	2		2	TMEM255B	13	113801800	Silent	SNP	C	C3L-00009_TP	87	113801800	562528	250	2138											
TEP1	0	.	GRCh38	chr14	20382333	20382333	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggggacagtggcaggCagggtccggagtctctcaga	9	5	18	9	1	2	1	1	0	1	1	4	3	3	3	1	6	1	3	1	6	0	0	rs778960243		C3L-00009_TP	C3L-00009_NB	C	C																c.4164G>T	p.=	p.L1388L	ENST00000262715	29/55	110	76	34	129	129	0	strelka-varscan-mutect	TEP1,synonymous_variant,p.=,ENST00000262715,NM_007110.4;TEP1,synonymous_variant,p.=,ENST00000556935,;TEP1,synonymous_variant,p.=,ENST00000555727,;TEP1,synonymous_variant,p.=,ENST00000555008,;TEP1,upstream_gene_variant,,ENST00000557314,;TEP1,upstream_gene_variant,,ENST00000556488,;TEP1,upstream_gene_variant,,ENST00000471684,;	A	ENST00000262715	Transcript	synonymous_variant	4205/10695	4164/7884	1388/2627	L	ctG/ctT	rs778960243	1		-1	TEP1	HGNC	HGNC:11726	protein_coding	YES	CCDS9548.1	ENSP00000262715	Q99973		UPI000013D30B	NM_007110.4			29/55		PROSITE_profiles:PS50837,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF448																	LOW	1	SNV	1			1										PASS		rs778960243	.												A	2	1	6	20382333	20382333	C	A	1	0	0	0	0	0	0	0	1	16175	697	25	2		2	TEP1	14	20382333	Silent	SNP	C	C3L-00009_TP		20382333	86661385	251	2139											
MYH7	0	.	GRCh38	chr14	23429292	23429292	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcacccgagggtggcacagCcccttgagcaggtcggctga	7	7	14	13	2	1	2	1	2	0	0	2	3	1	2	3	4	2	3	3	4	0	2			C3L-00009_TP	C3L-00009_NB	C	C																c.1194G>T	p.=	p.G398G	ENST00000355349	13/40	399	289	110	598	598	0	strelka-varscan-mutect	MYH7,synonymous_variant,p.=,ENST00000355349,NM_000257.3;	A	ENST00000355349	Transcript	synonymous_variant	1357/6087	1194/5808	398/1935	G	ggG/ggT	COSM4704657	1		-1	MYH7	HGNC	HGNC:7577	protein_coding	YES	CCDS9601.1	ENSP00000347507	P12883		UPI000014019B	NM_000257.3			13/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF413,SMART_domains:SM00242,Superfamily_domains:SSF52540											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	6	23429292	23429292	C	A	1	0	0	0	0	0	0	0	1	10039	726	26	2		2	MYH7	14	23429292	Silent	SNP	C	C3L-00009_TP	3046959	23429292	83614426	252	2140											
MDGA2	0	.	GRCh38	chr14	47061337	47061337	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgtacgtcccaaaatcCgtgaattttaaatcaatgat	14	13	6	8	2	1	2	1	2	0	0	3	2	3	2	2	0	1	1	2	0	7	3	rs776675809		C3L-00009_TP	C3L-00009_NB	C	C																c.1230G>A	p.=	p.T410T	ENST00000399232	7/17	226	170	56	277	277	0	strelka-varscan-mutect	MDGA2,synonymous_variant,p.=,ENST00000426342,;MDGA2,synonymous_variant,p.=,ENST00000399232,NM_001113498.2;MDGA2,synonymous_variant,p.=,ENST00000357362,NM_182830.4;MDGA2,synonymous_variant,p.=,ENST00000554762,;MDGA2,synonymous_variant,p.=,ENST00000557238,;MDGA2,synonymous_variant,p.=,ENST00000482848,;	T	ENST00000399232	Transcript	synonymous_variant	1595/5075	1230/2871	410/956	T	acG/acA	rs776675809,COSM5143926,COSM5143927,COSM5143928	1		-1	MDGA2	HGNC	HGNC:19835	protein_coding	YES	CCDS45098.3	ENSP00000382178	Q7Z553		UPI00001C14FF	NM_001113498.2			7/17		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF62,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs776675809	.												T	2	4	6	47061337	47061337	C	T	1	0	0	0	0	0	0	0	1	9345	639	23	1		1	MDGA2	14	47061337	Silent	SNP	C	C3L-00009_TP	23632045	47061337	59982381	253	2141											
SYNE2	0	.	GRCh38	chr14	64051579	64051579	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccactggacagtgtaacgTatctggacaaaattaaaaaa	18	8	8	7	1	1	0	0	0	1	0	1	3	1	2	1	2	1	2	1	2	7	3	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.7666T>C	p.Tyr2556His	p.Y2556H	ENST00000358025	48/116	205	158	47	278	278	0	strelka-varscan-mutect	SYNE2,missense_variant,p.Tyr2556His,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Tyr2556His,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Tyr2589His,ENST00000357395,;SYNE2,missense_variant,p.Tyr2589His,ENST00000554584,;SYNE2,downstream_gene_variant,,ENST00000557005,;	C	ENST00000358025	Transcript	missense_variant	7878/21842	7666/20724	2556/6907	Y/H	Tat/Cat		1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2	tolerated(0.56)		48/116																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	6	64051579	64051579	T	C	1	0	0	0	0	1	0	0	0	15838	1638	57	5		5	SYNE2	14	64051579	Missense_Mutation	SNP	T	C3L-00009_TP	16990242	64051579	42992139	254	2142											
C14orf177	0	.	GRCh38	chr14	98717259	98717259	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaaggaactgtagaacaGatgtcacagatgtaactatt	16	11	8	6	0	2	3	2	0	0	3	2	4	2	4	0	1	3	2	0	1	6	5	rs762783972		C3L-00009_TP	C3L-00009_NB	G	G																c.363G>A	p.=	p.Q121Q	ENST00000325812	4/4	114	99	15	139	139	0	strelka-varscan-mutect	C14orf177,synonymous_variant,p.=,ENST00000325812,NM_182560.2;C14orf177,downstream_gene_variant,,ENST00000541516,;C14orf177,downstream_gene_variant,,ENST00000546029,;	A	ENST00000325812	Transcript	synonymous_variant	782/1284	363/378	121/125	Q	caG/caA	rs762783972	1		1	C14orf177	HGNC	HGNC:26375	protein_coding	YES	CCDS9948.1	ENSP00000321360	Q52M58		UPI0000141766	NM_182560.2			4/4																			LOW	1	SNV	2			1										PASS		rs762783972	.												A	2	1	6	98717259	98717259	G	A	1	0	0	0	0	0	0	0	1	1833	933	33	3		3	C14orf177	14	98717259	Silent	SNP	G	C3L-00009_TP	34665680	98717259	8326459	255	2143											
HDC	0	.	GRCh38	chr15	50253634	50253634	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacaggcagtcaaatgcAcagaccccagtggtccctag	11	7	10	13	0	2	2	1	1	1	1	3	2	3	2	3	2	1	2	3	2	2	1	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.753T>C	p.=	p.C251C	ENST00000267845	7/12	403	326	77	556	556	0	strelka-varscan-mutect	HDC,synonymous_variant,p.=,ENST00000267845,NM_002112.3;HDC,synonymous_variant,p.=,ENST00000543581,NM_001306146.1;HDC,downstream_gene_variant,,ENST00000559683,;HDC,non_coding_transcript_exon_variant,,ENST00000558761,;HDC,non_coding_transcript_exon_variant,,ENST00000559190,;HDC,upstream_gene_variant,,ENST00000559816,;HDC,downstream_gene_variant,,ENST00000558679,;	G	ENST00000267845	Transcript	synonymous_variant	1156/2705	753/1989	251/662	C	tgT/tgC		1		-1	HDC	HGNC	HGNC:4855	protein_coding	YES	CCDS10134.1	ENSP00000267845	P19113		UPI0000128FB4	NM_002112.3			7/12		Gene3D:3.40.640.10,Pfam_domain:PF00282,hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF68,Superfamily_domains:SSF53383																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	6	50253634	50253634	A	G	1	0	0	0	0	0	0	0	1	6902	157	6	5		5	HDC	15	50253634	Silent	SNP	A	C3L-00009_TP		50253634	51737555	256	2144											
DYX1C1	0	.	GRCh38	chr15	55434920	55434920	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataccttagaagaatcttcAatagccttgtgtaagttttt	12	16	6	7	0	2	2	1	0	1	2	2	2	2	2	2	0	2	2	2	0	7	8	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.1032T>C	p.=	p.I344I	ENST00000321149	8/10	76	57	19	122	122	0	strelka-varscan-mutect	DYX1C1,synonymous_variant,p.=,ENST00000321149,NM_130810.3;DYX1C1,synonymous_variant,p.=,ENST00000348518,;DYX1C1,synonymous_variant,p.=,ENST00000457155,NM_001033559.2;DYX1C1,synonymous_variant,p.=,ENST00000448430,NM_001033560.1;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000565113,;DYX1C1-CCPG1,intron_variant,,ENST00000568310,;DYX1C1,3_prime_UTR_variant,,ENST00000524160,;	G	ENST00000321149	Transcript	synonymous_variant	1400/1993	1032/1263	344/420	I	atT/atC		1		-1	DYX1C1	HGNC	HGNC:21493	protein_coding	YES	CCDS10154.1	ENSP00000323275	Q8WXU2		UPI000013E5B8	NM_130810.3			8/10		PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF281,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	6	55434920	55434920	A	G	1	0	0	0	0	0	0	0	1	4685	126	5	5		5	DYX1C1	15	55434920	Silent	SNP	A	C3L-00009_TP	5181286	55434920	46556269	257	2145											
ACSBG1	0	.	GRCh38	chr15	78173754	78173754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatctcggacactgtggtgGctctgctgcccaccctctgg	4	11	12	14	1	3	1	0	1	3	0	4	2	3	2	2	4	2	2	2	4	0	0	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1928C>A	p.Ala643Asp	p.A643D	ENST00000258873	13/14	315	288	27	398	398	0	strelka-varscan-mutect	ACSBG1,missense_variant,p.Ala643Asp,ENST00000258873,NM_001199377.1,NM_015162.4;ACSBG1,missense_variant,p.Ala401Asp,ENST00000560817,;IDH3A,downstream_gene_variant,,ENST00000299518,NM_005530.2;IDH3A,downstream_gene_variant,,ENST00000558554,;IDH3A,downstream_gene_variant,,ENST00000559205,;IDH3A,downstream_gene_variant,,ENST00000558535,;ACSBG1,3_prime_UTR_variant,,ENST00000560124,;ACSBG1,non_coding_transcript_exon_variant,,ENST00000560183,;IDH3A,downstream_gene_variant,,ENST00000559889,;IDH3A,downstream_gene_variant,,ENST00000558602,;IDH3A,downstream_gene_variant,,ENST00000560667,;IDH3A,downstream_gene_variant,,ENST00000559803,;IDH3A,downstream_gene_variant,,ENST00000558016,;IDH3A,downstream_gene_variant,,ENST00000557960,;	T	ENST00000258873	Transcript	missense_variant	2134/6357	1928/2175	643/724	A/D	gCc/gAc		1		-1	ACSBG1	HGNC	HGNC:29567	protein_coding	YES	CCDS10298.1	ENSP00000258873	Q96GR2		UPI000006E955	NM_001199377.1,NM_015162.4	deleterious(0)		13/14		hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF184																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	78173754	78173754	G	T	1	0	0	0	0	1	0	0	0	215	1203	42	2		2	ACSBG1	15	78173754	Missense_Mutation	SNP	G	C3L-00009_TP	22738834	78173754	23817435	258	2146											
BNC1	0	.	GRCh38	chr15	83263443	83263443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggcctctccccttcaGggaaaggcttccctaagcct	7	8	11	15	0	2	0	1	0	1	0	4	1	3	1	5	4	1	2	5	4	2	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1808C>A	p.Pro603His	p.P603H	ENST00000345382	4/5	314	253	61	442	442	0	strelka-varscan-mutect	BNC1,missense_variant,p.Pro603His,ENST00000345382,NM_001717.3;BNC1,missense_variant,p.Pro596His,ENST00000569704,NM_001301206.1;RP11-382A20.4,intron_variant,,ENST00000565495,;	T	ENST00000345382	Transcript	missense_variant	1894/4610	1808/2985	603/994	P/H	cCt/cAt		1		-1	BNC1	HGNC	HGNC:1081	protein_coding	YES	CCDS10324.1	ENSP00000307041	Q01954		UPI0000126796	NM_001717.3	deleterious(0.02)		4/5		hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	83263443	83263443	G	T	1	0	0	0	0	1	0	0	0	1630	1000	35	2		2	BNC1	15	83263443	Missense_Mutation	SNP	G	C3L-00009_TP	5089689	83263443	18727746	259	2147											
NTRK3	0	.	GRCh38	chr15	87940689	87940689	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcggccaggaagaccttTccaaaggctccctcacccag	10	6	8	17	1	1	1	1	0	0	1	4	2	3	2	5	3	0	1	5	3	2	1	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.1650A>G	p.=	p.G550G	ENST00000360948	15/20	579	531	48	738	738	0	strelka-varscan-mutect	NTRK3,synonymous_variant,p.=,ENST00000394480,NM_002530.3;NTRK3,synonymous_variant,p.=,ENST00000558676,;NTRK3,synonymous_variant,p.=,ENST00000360948,NM_001012338.2;NTRK3,synonymous_variant,p.=,ENST00000357724,;NTRK3,synonymous_variant,p.=,ENST00000355254,NM_001243101.1;NTRK3,synonymous_variant,p.=,ENST00000626019,;NTRK3,synonymous_variant,p.=,ENST00000629765,;NTRK3,synonymous_variant,p.=,ENST00000557856,;NTRK3,synonymous_variant,p.=,ENST00000542733,NM_001320135.1;NTRK3,non_coding_transcript_exon_variant,,ENST00000559680,;	C	ENST00000360948	Transcript	synonymous_variant	1956/3004	1650/2520	550/839	G	ggA/ggG		1		-1	NTRK3	HGNC	HGNC:8033	protein_coding	YES	CCDS32322.1	ENSP00000354207	Q16288	X5D2R1	UPI000006DC82	NM_001012338.2			15/20		Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF66,SMART_domains:SM00219,Superfamily_domains:SSF56112																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	6	87940689	87940689	T	C	1	0	0	0	0	0	0	0	1	10774	1770	62	5		5	NTRK3	15	87940689	Silent	SNP	T	C3L-00009_TP	4677246	87940689	14050500	260	2148											
SYNM	0	.	GRCh38	chr15	99105636	99105636	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcgccgaggcctcgacgCggcccacgaacgcgacgtga	8	2	15	16	10	0	1	0	1	0	0	1	6	0	1	3	2	2	0	3	2	1	0	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.437C>A	p.Ala146Glu	p.A146E	ENST00000336292	1/4	111	90	21	118	117	1	strelka-varscan-mutect	SYNM,missense_variant,p.Ala146Glu,ENST00000336292,NM_145728.2;SYNM,missense_variant,p.Ala146Glu,ENST00000594047,NM_015286.5;SYNM,missense_variant,p.Ala146Glu,ENST00000328642,;SYNM,intron_variant,,ENST00000560674,;RP11-654A16.3,intron_variant,,ENST00000559468,;	A	ENST00000336292	Transcript	missense_variant	602/7394	437/4698	146/1565	A/E	gCg/gAg		1		1	SYNM	HGNC	HGNC:24466	protein_coding	YES	CCDS73787.1	ENSP00000336775	O15061		UPI0000DC3AA9	NM_145728.2	tolerated(0.85)		1/4		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF194,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	99105636	99105636	C	A	1	0	0	0	0	1	0	0	0	15849	768	27	1		1	SYNM	15	99105636	Missense_Mutation	SNP	C	C3L-00009_TP	11164947	99105636	2885553	261	2149											
CERS3	0	.	GRCh38	chr15	100501767	100501767	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaagacgagtccatcgTgatcctcaagatctgaccac	13	9	7	12	2	2	4	1	2	1	2	5	5	4	4	3	0	1	0	3	0	3	1	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.83A>T	p.His28Leu	p.H28L	ENST00000284382	4/13	265	219	46	283	283	0	strelka-varscan-mutect	CERS3,missense_variant,p.His28Leu,ENST00000284382,NM_178842.3,NM_001290343.1;CERS3,missense_variant,p.His28Leu,ENST00000394113,NM_001290341.1;CERS3,missense_variant,p.His28Leu,ENST00000538112,NM_001290342.1;CERS3,missense_variant,p.His28Leu,ENST00000558884,;CERS3,downstream_gene_variant,,ENST00000559639,;CERS3,intron_variant,,ENST00000560944,;CERS3,non_coding_transcript_exon_variant,,ENST00000559023,;	A	ENST00000284382	Transcript	missense_variant	507/3894	83/1152	28/383	H/L	cAc/cTc		1		-1	CERS3	HGNC	HGNC:23752	protein_coding	YES	CCDS10384.1	ENSP00000284382	Q8IU89		UPI00001975AB	NM_178842.3,NM_001290343.1	tolerated(0.19)		4/13		PIRSF_domain:PIRSF005225,hmmpanther:PTHR12560,hmmpanther:PTHR12560:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	100501767	100501767	T	A	1	0	0	0	0	1	0	0	0	2997	1696	59	4		4	CERS3	15	100501767	Missense_Mutation	SNP	T	C3L-00009_TP	1396131	100501767	1489422	262	2150											
XYLT1	0	.	GRCh38	chr16	17200548	17200548	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgaacatgcgctgcaactgCcgagaggcacggccgtggac	9	6	14	12	4	0	2	0	1	0	1	0	4	0	3	2	3	5	3	2	3	2	1	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.1020G>C	p.=	p.R340R	ENST00000261381	4/12	240	222	18	278	278	0	strelka-varscan-mutect	XYLT1,synonymous_variant,p.=,ENST00000261381,NM_022166.3;XYLT1,non_coding_transcript_exon_variant,,ENST00000575674,;	G	ENST00000261381	Transcript	synonymous_variant	1105/9891	1020/2880	340/959	R	cgG/cgC		1		-1	XYLT1	HGNC	HGNC:15516	protein_coding	YES	CCDS10569.1	ENSP00000261381	Q86Y38		UPI000000DCCE	NM_022166.3			4/12		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF91,Pfam_domain:PF02485																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	6	17200548	17200548	C	G	1	0	0	0	0	0	0	0	1	18022	726	26	4		4	XYLT1	16	17200548	Silent	SNP	C	C3L-00009_TP		17200548	73137797	263	2151											
C16orf78	0	.	GRCh38	chr16	49396465	49396465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacccagagtccactcagcGgccaaacccattccgtcgac	10	5	8	18	4	1	1	1	0	0	1	4	3	3	1	5	1	2	0	5	1	1	1	rs546860439		C3L-00009_TP	C3L-00009_NB	G	G																c.437G>T	p.Arg146Leu	p.R146L	ENST00000299191	4/5	187	172	15	241	241	0	strelka-varscan-mutect	C16orf78,missense_variant,p.Arg146Leu,ENST00000299191,NM_144602.3;	T	ENST00000299191	Transcript	missense_variant	554/1068	437/798	146/265	R/L	cGg/cTg	rs546860439,COSM1378073	1		1	C16orf78	HGNC	HGNC:28479	protein_coding	YES	CCDS10738.1	ENSP00000299191	Q8WTQ4		UPI0000071013	NM_144602.3	deleterious(0.02)		4/5		Pfam_domain:PF15472,hmmpanther:PTHR35679											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs546860439	.												T	3	4	6	49396465	49396465	G	T	1	0	0	0	0	1	0	0	0	1866	1116	39	1		1	C16orf78	16	49396465	Missense_Mutation	SNP	G	C3L-00009_TP	32195917	49396465	40941880	264	2152											
PLA2G15	0	.	GRCh38	chr16	68245437	68245437	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtacaccatgggcctccAcctccgcccctaccgtgtgg	5	8	10	18	3	0	0	0	0	0	0	3	0	2	0	8	2	2	1	8	2	2	2	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.11A>T	p.His4Leu	p.H4L	ENST00000219345	1/6	174	154	20	206	206	0	strelka-varscan-mutect	PLA2G15,missense_variant,p.His4Leu,ENST00000219345,NM_012320.3;PLA2G15,missense_variant,p.His4Leu,ENST00000413021,;PLA2G15,missense_variant,p.His4Leu,ENST00000566188,;PLA2G15,missense_variant,p.His4Leu,ENST00000444212,;PLA2G15,missense_variant,p.His4Leu,ENST00000568082,;PLA2G15,missense_variant,p.His4Leu,ENST00000564827,;PLA2G15,missense_variant,p.His4Leu,ENST00000565744,;PLA2G15,upstream_gene_variant,,ENST00000568599,;PLA2G15,missense_variant,p.His4Leu,ENST00000566978,;PLA2G15,non_coding_transcript_exon_variant,,ENST00000562966,;	T	ENST00000219345	Transcript	missense_variant	94/2727	11/1239	4/412	H/L	cAc/cTc		1		1	PLA2G15	HGNC	HGNC:17163	protein_coding	YES	CCDS10864.1	ENSP00000219345	Q8NCC3		UPI00000359EF	NM_012320.3	tolerated_low_confidence(0.34)		1/6		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11440:SF47,hmmpanther:PTHR11440																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	68245437	68245437	A	T	1	0	0	0	0	1	0	0	0	12088	159	6	4		4	PLA2G15	16	68245437	Missense_Mutation	SNP	A	C3L-00009_TP	18848972	68245437	22092908	265	2153											
PHLPP2	0	.	GRCh38	chr16	71658661	71658661	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacagaagtacctggatctGaggcaactgcagtatttctg	12	10	10	9	0	2	2	0	1	2	1	2	3	2	3	1	2	3	4	1	2	4	3	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.2140C>T	p.Gln714Ter	p.Q714*	ENST00000568954	14/19	128	109	19	160	160	0	strelka-varscan-mutect	PHLPP2,stop_gained,p.Gln647Ter,ENST00000393524,NM_001289003.1;PHLPP2,stop_gained,p.Gln714Ter,ENST00000568954,NM_015020.3;PHLPP2,stop_gained,p.Gln749Ter,ENST00000567016,;RP11-432I5.6,intron_variant,,ENST00000567077,;PHLPP2,stop_gained,p.Gln452Ter,ENST00000568004,;PHLPP2,stop_gained,p.Gln77Ter,ENST00000564884,;	A	ENST00000568954	Transcript	stop_gained	2519/8317	2140/3972	714/1323	Q/*	Cag/Tag		1		-1	PHLPP2	HGNC	HGNC:29149	protein_coding	YES	CCDS32479.1	ENSP00000457991	Q6ZVD8		UPI0000229F5A	NM_015020.3			14/19		PROSITE_profiles:PS51450,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	6	71658661	71658661	G	A	1	0	0	0	0	0	1	0	0	11943	1299	45	3		3	PHLPP2	16	71658661	Nonsense_Mutation	SNP	G	C3L-00009_TP	3413224	71658661	18679684	266	2154											
ZFHX3	0	.	GRCh38	chr16	72794657	72794657	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcaagcccacctcgtgTgcaatgtgatccaacatctt	9	13	6	13	1	3	1	1	1	2	0	5	1	4	1	3	0	3	1	3	0	3	3	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.8025A>C	p.=	p.A2675A	ENST00000268489	9/10	225	190	35	341	340	1	strelka-varscan-mutect	ZFHX3,synonymous_variant,p.=,ENST00000268489,NM_006885.3;ZFHX3,synonymous_variant,p.=,ENST00000397992,NM_001164766.1;RP5-991G20.1,downstream_gene_variant,,ENST00000563328,;	G	ENST00000268489	Transcript	synonymous_variant	8698/16064	8025/11112	2675/3703	A	gcA/gcC		1		-1	ZFHX3	HGNC	HGNC:777	protein_coding	YES	CCDS10908.1	ENSP00000268489	Q15911		UPI00001AE937	NM_006885.3			9/10		PROSITE_profiles:PS50071,hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208,PROSITE_patterns:PS00027,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	6	72794657	72794657	T	G	1	0	0	0	0	0	0	0	1	18212	1683	59	5		5	ZFHX3	16	72794657	Silent	SNP	T	C3L-00009_TP	1135996	72794657	17543688	267	2155											
CNTNAP4	0	.	GRCh38	chr16	76476030	76476030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaacactggttacagaggaGctacttgccataactgtaag	13	9	9	10	0	0	1	0	0	0	1	0	2	0	2	2	2	6	3	2	2	5	5	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1747G>T	p.Ala583Ser	p.A583S	ENST00000611870	11/24	181	166	15	278	278	0	strelka-varscan-mutect	CNTNAP4,missense_variant,p.Ala583Ser,ENST00000307431,;CNTNAP4,missense_variant,p.Ala583Ser,ENST00000611870,NM_033401.3;CNTNAP4,missense_variant,p.Ala535Ser,ENST00000377504,;CNTNAP4,missense_variant,p.Ala586Ser,ENST00000476707,;CNTNAP4,missense_variant,p.Ala535Ser,ENST00000622250,;CNTNAP4,missense_variant,p.Ala510Ser,ENST00000478060,NM_138994.3;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000471618,;	T	ENST00000611870	Transcript	missense_variant	2132/4867	1747/3927	583/1308	A/S	Gct/Tct		1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3	deleterious(0.02)		11/24		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659,SMART_domains:SM00181,Superfamily_domains:SSF56496,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	76476030	76476030	G	T	1	0	0	0	0	1	0	0	0	3431	971	34	2		2	CNTNAP4	16	76476030	Missense_Mutation	SNP	G	C3L-00009_TP	3681373	76476030	13862315	268	2156											
WWOX	0	.	GRCh38	chr16	79211636	79211636	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgccaccaccgtgtactGtgctgctgtcccagaactgg	7	9	11	14	1	0	1	0	0	0	1	1	1	1	1	4	1	6	4	4	1	2	1	rs778218106		C3L-00009_TP	C3L-00009_NB	G	G																c.1085G>C	p.Cys362Ser	p.C362S	ENST00000566780	9/9	463	395	68	600	599	1	strelka-varscan-mutect	WWOX,missense_variant,p.Cys362Ser,ENST00000566780,NM_001291997.1,NM_016373.3;WWOX,missense_variant,p.Cys182Ser,ENST00000406884,;WWOX,missense_variant,p.Val172Leu,ENST00000539474,;WWOX,synonymous_variant,p.=,ENST00000402655,;RP11-679B19.2,downstream_gene_variant,,ENST00000569677,;RP11-679B19.1,upstream_gene_variant,,ENST00000622621,;WWOX,non_coding_transcript_exon_variant,,ENST00000566103,;WWOX,3_prime_UTR_variant,,ENST00000569332,;	C	ENST00000566780	Transcript	missense_variant	1451/2482	1085/1245	362/414	C/S	tGt/tCt	rs778218106	1		1	WWOX	HGNC	HGNC:12799	protein_coding	YES	CCDS42196.1	ENSP00000457230	Q9NZC7		UPI000004C797	NM_001291997.1,NM_016373.3	deleterious(0.02)		9/9		Gene3D:3.40.50.720,hmmpanther:PTHR24320,hmmpanther:PTHR24320:SF72,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		rs778218106	.												C	3	2	6	79211636	79211636	G	C	1	0	0	0	0	1	0	0	0	17972	1377	48	4		4	WWOX	16	79211636	Missense_Mutation	SNP	G	C3L-00009_TP	2735606	79211636	11126709	269	2157											
ZNF594	0	.	GRCh38	chr17	5183491	5183491	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtgaattctgtgatgtaTaataagatctgtgctttgac	11	16	10	4	0	2	4	0	3	2	1	2	4	2	4	0	0	1	2	0	0	4	5	rs757201606		C3L-00009_TP	C3L-00009_NB	T	T																c.766A>T	p.Ile256Leu	p.I256L	ENST00000399604	1/1	177	144	33	293	293	0	strelka-varscan-mutect	ZNF594,missense_variant,p.Ile256Leu,ENST00000399604,;ZNF594,missense_variant,p.Ile256Leu,ENST00000575779,NM_032530.1;ZNF594,downstream_gene_variant,,ENST00000576772,;	A	ENST00000399604	Transcript	missense_variant	907/4862	766/2424	256/807	I/L	Ata/Tta	rs757201606	1		-1	ZNF594	HGNC	HGNC:29392	protein_coding	YES	CCDS42241.1	ENSP00000382513	Q96JF6		UPI00001C1FDF		tolerated(0.37)		1/1		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF155,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV				1										PASS		rs757201606	.												A	3	1	6	5183491	5183491	T	A	1	0	0	0	0	1	0	0	0	18599	1406	49	4		4	ZNF594	17	5183491	Missense_Mutation	SNP	T	C3L-00009_TP		5183491	78073950	270	2158											
TP53	0	.	GRCh38	chr17	7674227	7674227	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgggcctccggttcaTgccgcccatgcaggaactgt	7	8	14	12	2	1	0	1	0	0	0	2	3	2	2	4	4	3	2	4	4	1	1	rs483352695		C3L-00009_TP	C3L-00009_NB	T	T																c.736A>G	p.Met246Val	p.M246V	ENST00000269305	7/11	279	225	54	380	380	0	strelka-varscan-mutect	TP53,missense_variant,p.Met246Val,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Met246Val,ENST00000420246,;TP53,missense_variant,p.Met207Val,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Met207Val,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Met246Val,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Met207Val,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Met246Val,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Met207Val,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Met246Val,ENST00000445888,;TP53,missense_variant,p.Met207Val,ENST00000619485,;TP53,missense_variant,p.Met114Val,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Met87Val,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Met114Val,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Met87Val,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Met114Val,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Met87Val,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Met246Val,ENST00000359597,;TP53,missense_variant,p.Met235Val,ENST00000615910,;TP53,missense_variant,p.Met246Val,ENST00000413465,;TP53,missense_variant,p.Met114Val,ENST00000509690,;TP53,missense_variant,p.Met153Val,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Met207Val,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	C	ENST00000269305	Transcript	missense_variant	926/2579	736/1182	246/393	M/V	Atg/Gtg	rs483352695,CM942294,TP53_g.13373A>T,TP53_g.13373A>G,TP53_g.13373A>C,TP53_g.13373del,COSM1726382,COSM251429,COSM251430,COSM251431,COSM3958808,COSM4166414,COSM4166415,COSM4166416,COSM4166417,COSM4166418,COSM43555,COSM44903,COSM45992	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										likely_pathogenic,pathogenic	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs483352695	.												C	3	2	6	7674227	7674227	T	C	1	0	0	0	0	1	0	0	0	16859	1464	51	5		5	TP53	17	7674227	Missense_Mutation	SNP	T	C3L-00009_TP	2490736	7674227	75583214	271	2159											
DNAH2	0	.	GRCh38	chr17	7805286	7805286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaagaaggatataggagAgatcaagtcttatggacggc	16	7	13	5	1	2	2	1	0	1	2	2	7	2	5	0	4	1	0	0	4	7	3	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.9335A>G	p.Glu3112Gly	p.E3112G	ENST00000572933	61/86	174	139	35	290	290	0	strelka-varscan-mutect	DNAH2,missense_variant,p.Glu3112Gly,ENST00000572933,NM_020877.3;DNAH2,missense_variant,p.Glu3112Gly,ENST00000389173,;DNAH2,missense_variant,p.Glu61Gly,ENST00000575105,;	G	ENST00000572933	Transcript	missense_variant	10795/14955	9335/13284	3112/4427	E/G	gAg/gGg		1		1	DNAH2	HGNC	HGNC:2948	protein_coding	YES	CCDS32551.1	ENSP00000458355	Q9P225		UPI00005B2F0D	NM_020877.3	deleterious(0)		61/86		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF12777																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	6	7805286	7805286	A	G	1	0	0	0	0	1	0	0	0	4417	304	11	5		5	DNAH2	17	7805286	Missense_Mutation	SNP	A	C3L-00009_TP	131059	7805286	75452155	272	2160											
MYH1	0	.	GRCh38	chr17	10497893	10497893	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacatgttcctcagcatcCtgcagacgctgagccagctt	8	11	8	14	1	2	2	1	1	1	1	4	2	4	2	3	0	5	5	3	0	1	3	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.4206G>A	p.=	p.Q1402Q	ENST00000226207	31/40	97	91	6	152	152	0	strelka-varscan-mutect	MYH1,synonymous_variant,p.=,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000226207	Transcript	synonymous_variant	4301/6024	4206/5820	1402/1939	Q	caG/caA		1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3			31/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576																	LOW		SNV	5			1										PASS		.	.												T	2	4	6	10497893	10497893	C	T	1	0	0	0	0	0	0	0	1	10029	680	24	3		3	MYH1	17	10497893	Silent	SNP	C	C3L-00009_TP	2692607	10497893	72759548	273	2161											
TMEM220	0	.	GRCh38	chr17	10726227	10726227	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacttcagggttaagtccaAcaagcagggtcagtactgca	12	9	11	9	0	2	1	2	1	0	0	3	1	3	1	1	2	4	4	1	2	4	3	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.140T>A	p.Val47Asp	p.V47D	ENST00000341871	3/6	231	190	41	272	272	0	strelka-varscan-mutect	TMEM220,missense_variant,p.Val47Asp,ENST00000341871,NM_001004313.1;TMEM220,missense_variant,p.Val37Asp,ENST00000455996,;TMEM220,missense_variant,p.Val37Asp,ENST00000578345,;TMEM220,upstream_gene_variant,,ENST00000580787,;TMEM220,upstream_gene_variant,,ENST00000581949,;TMEM220-AS1,upstream_gene_variant,,ENST00000583343,;TMEM220-AS1,upstream_gene_variant,,ENST00000583012,;TMEM220-AS1,upstream_gene_variant,,ENST00000579114,;TMEM220-AS1,upstream_gene_variant,,ENST00000581366,;TMEM220-AS1,upstream_gene_variant,,ENST00000580899,;TMEM220-AS1,upstream_gene_variant,,ENST00000584714,;TMEM220-AS1,upstream_gene_variant,,ENST00000583115,;TMEM220,non_coding_transcript_exon_variant,,ENST00000580186,;	T	ENST00000341871	Transcript	missense_variant	605/3106	140/483	47/160	V/D	gTt/gAt		1		-1	TMEM220	HGNC	HGNC:33757	protein_coding	YES	CCDS32567.1	ENSP00000339830	Q6QAJ8		UPI00001D79BC	NM_001004313.1	deleterious(0)		3/6		Transmembrane_helices:TMhelix,hmmpanther:PTHR34262:SF1,hmmpanther:PTHR34262,Pfam_domain:PF15071																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	10726227	10726227	A	T	1	0	0	0	0	1	0	0	0	16584	43	2	4		4	TMEM220	17	10726227	Missense_Mutation	SNP	A	C3L-00009_TP	228334	10726227	72531214	274	2162											
RNF135	0	.	GRCh38	chr17	30988074	30988074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaattacaagaaagcgtcaCctggaaagaggctcctgaag	17	6	10	8	1	1	3	1	1	0	2	2	4	2	4	2	2	2	1	2	2	7	1	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.647C>T	p.Thr216Ile	p.T216I	ENST00000328381	3/5	576	484	92	563	563	0	strelka-varscan-mutect	RNF135,missense_variant,p.Thr216Ile,ENST00000328381,NM_032322.3;RNF135,missense_variant,p.Thr216Ile,ENST00000535306,NM_001184992.1;RNF135,missense_variant,p.Thr146Ile,ENST00000580444,;RNF135,intron_variant,,ENST00000324689,NM_197939.1;RNF135,intron_variant,,ENST00000443677,;RNF135,upstream_gene_variant,,ENST00000434242,;	T	ENST00000328381	Transcript	missense_variant	1520/2892	647/1299	216/432	T/I	aCc/aTc		1		1	RNF135	HGNC	HGNC:21158	protein_coding	YES	CCDS11262.1	ENSP00000328340	Q8IUD6		UPI00001AF795	NM_032322.3	tolerated(0.33)		3/5		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF386																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	30988074	30988074	C	T	1	0	0	0	0	1	0	0	0	13618	507	18	3		3	RNF135	17	30988074	Missense_Mutation	SNP	C	C3L-00009_TP	20261847	30988074	52269367	275	2163											
CCL3L3	0	.	GRCh38	chr17	36195367	36195367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacctgccggcctctcttGgttaggaagctgtggagaag	8	9	14	10	1	1	2	0	0	1	2	2	4	1	3	3	4	2	2	3	4	3	2	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.201C>T	p.=	p.T67T	ENST00000619989	3/3	620	536	84	824	824	0	strelka-varscan-mutect	CCL3L3,synonymous_variant,p.=,ENST00000619989,NM_001001437.3;AC131056.3,intron_variant,,ENST00000618848,;AC131056.3,intron_variant,,ENST00000614777,;CCL3L3,non_coding_transcript_exon_variant,,ENST00000616702,;CCL3L3,non_coding_transcript_exon_variant,,ENST00000612839,;	A	ENST00000619989	Transcript	synonymous_variant	286/784	201/282	67/93	T	acC/acT		1		-1	CCL3L3	HGNC	HGNC:30554	protein_coding	YES	CCDS32626.1	ENSP00000480558	P16619		UPI000004457D	NM_001001437.3			3/3		Gene3D:2.40.50.40,Pfam_domain:PF00048,PROSITE_patterns:PS00472,hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF91,SMART_domains:SM00199,Superfamily_domains:SSF54117																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	6	36195367	36195367	G	A	1	0	0	0	0	0	0	0	1	2600	1335	47	3		3	CCL3L3	17	36195367	Silent	SNP	G	C3L-00009_TP	5207293	36195367	47062074	276	2164											
KRT31	0	.	GRCh38	chr17	41397532	41397532	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgggcaggcagaagttgTagggcatagtgctgggaggg	8	7	21	5	0	0	1	0	0	0	1	0	2	0	2	0	6	1	7	0	6	3	3	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.8A>G	p.Tyr3Cys	p.Y3C	ENST00000251645	1/7	96	78	18	205	205	0	strelka-varscan-mutect	KRT31,missense_variant,p.Tyr3Cys,ENST00000251645,NM_002277.2;AC003958.2,upstream_gene_variant,,ENST00000432258,;AC003958.2,upstream_gene_variant,,ENST00000430006,;	C	ENST00000251645	Transcript	missense_variant	61/1596	8/1251	3/416	Y/C	tAc/tGc		1		-1	KRT31	HGNC	HGNC:6448	protein_coding	YES	CCDS11391.1	ENSP00000251645	Q15323		UPI000006F564	NM_002277.2	deleterious_low_confidence(0.01)		1/7		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF99																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	41397532	41397532	T	C	1	0	0	0	0	1	0	0	0	8349	1638	57	5		5	KRT31	17	41397532	Missense_Mutation	SNP	T	C3L-00009_TP	5202165	41397532	41859909	277	2165											
PLCD3	0	.	GRCh38	chr17	45118853	45118853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtctgaatgagctgctggGcgcgggccagtgtggcgccc	5	7	18	11	3	1	2	0	2	1	0	1	2	1	2	2	4	2	2	2	4	1	0	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.875C>T	p.Ala292Val	p.A292V	ENST00000619929	5/15	187	158	29	197	197	0	strelka-varscan-mutect	PLCD3,missense_variant,p.Ala292Val,ENST00000619929,NM_133373.4;PLCD3,downstream_gene_variant,,ENST00000590644,;PLCD3,downstream_gene_variant,,ENST00000538093,;MIR6784,upstream_gene_variant,,ENST00000611997,;PLCD3,non_coding_transcript_exon_variant,,ENST00000538988,;PLCD3,upstream_gene_variant,,ENST00000543623,;PLCD3,upstream_gene_variant,,ENST00000611986,;PLCD3,downstream_gene_variant,,ENST00000544446,;PLCD3,upstream_gene_variant,,ENST00000615898,;PLCD3,non_coding_transcript_exon_variant,,ENST00000546350,;PLCD3,non_coding_transcript_exon_variant,,ENST00000542173,;PLCD3,upstream_gene_variant,,ENST00000618022,;	A	ENST00000619929	Transcript	missense_variant	963/6107	875/2370	292/789	A/V	gCc/gTc		1		-1	PLCD3	HGNC	HGNC:9061	protein_coding	YES	CCDS74077.1	ENSP00000479636	Q8N3E9		UPI0000070705	NM_133373.4	deleterious(0)		5/15		Gene3D:1.10.238.10,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF33,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	45118853	45118853	G	A	1	0	0	0	0	1	0	0	0	12126	1203	42	3		3	PLCD3	17	45118853	Missense_Mutation	SNP	G	C3L-00009_TP	3721321	45118853	38138588	278	2166											
ITGB4	0	.	GRCh38	chr17	75755732	75755732	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctggtgtgcccgacacGcccacccgcctggtgttctc	4	9	11	17	3	1	0	0	0	1	0	2	1	1	0	4	2	2	2	4	2	0	1	rs144407069		C3L-00009_TP	C3L-00009_NB	G	G																c.4590G>T	p.=	p.T1530T	ENST00000200181	35/40	599	530	69	626	626	0	strelka-varscan-mutect	ITGB4,synonymous_variant,p.=,ENST00000200181,NM_000213.3;ITGB4,synonymous_variant,p.=,ENST00000449880,NM_001005619.1;ITGB4,synonymous_variant,p.=,ENST00000450894,NM_001005731.1;ITGB4,synonymous_variant,p.=,ENST00000579662,NM_001321123.1;GALK1,intron_variant,,ENST00000225614,;ITGB4,intron_variant,,ENST00000584939,;ITGB4,intron_variant,,ENST00000582629,;GALK1,downstream_gene_variant,,ENST00000588479,NM_000154.1;GALK1,downstream_gene_variant,,ENST00000592997,;ITGB4,upstream_gene_variant,,ENST00000578318,;ITGB4,non_coding_transcript_exon_variant,,ENST00000583327,;ITGB4,non_coding_transcript_exon_variant,,ENST00000579211,;GALK1,intron_variant,,ENST00000589643,;GALK1,downstream_gene_variant,,ENST00000592494,;GALK1,downstream_gene_variant,,ENST00000587707,;GALK1,downstream_gene_variant,,ENST00000586733,;	T	ENST00000200181	Transcript	synonymous_variant	4777/5919	4590/5469	1530/1822	T	acG/acT	rs144407069	1		1	ITGB4	HGNC	HGNC:6158	protein_coding	YES	CCDS11727.1	ENSP00000200181	P16144	A0A024R8T0	UPI00001AE5C0	NM_000213.3			35/40		Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF002513,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		rs144407069	.												T	2	4	6	75755732	75755732	G	T	1	0	0	0	0	0	0	0	1	7803	1074	38	1		1	ITGB4	17	75755732	Silent	SNP	G	C3L-00009_TP	30636879	75755732	7501709	279	2167											
MGAT5B	0	.	GRCh38	chr17	76906053	76906053	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcctgacggaggagtcCggggacgtgttcagccctcg	5	8	16	12	4	1	1	1	1	0	0	4	4	3	4	3	5	1	2	3	5	0	2	rs112338799		C3L-00009_TP	C3L-00009_NB	C	C																c.924C>A	p.=	p.S308S	ENST00000428789	7/16	163	141	22	188	188	0	strelka-mutect	MGAT5B,synonymous_variant,p.=,ENST00000569840,NM_001199172.1;MGAT5B,synonymous_variant,p.=,ENST00000301618,NM_144677.2;MGAT5B,synonymous_variant,p.=,ENST00000428789,NM_198955.1;MGAT5B,non_coding_transcript_exon_variant,,ENST00000374998,;MGAT5B,synonymous_variant,p.=,ENST00000565043,;	A	ENST00000428789	Transcript	synonymous_variant	1027/4053	924/2406	308/801	S	tcC/tcA	rs112338799	1		1	MGAT5B	HGNC	HGNC:24140	protein_coding	YES	CCDS45788.1	ENSP00000391227	Q3V5L5		UPI0000231C88	NM_198955.1			7/16		Pfam_domain:PF15024,hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF6																	LOW	1	SNV	1			1										PASS		rs112338799	.												A	2	1	6	76906053	76906053	C	A	1	0	0	0	0	0	0	0	1	9510	639	23	1		1	MGAT5B	17	76906053	Silent	SNP	C	C3L-00009_TP	1150321	76906053	6351388	280	2168											
CCDC40	0	.	GRCh38	chr17	80089814	80089814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaactggcaaaagagatgcGttcctcagtggattccgaga	12	8	11	10	2	1	2	1	0	0	2	3	5	3	3	3	2	2	2	3	2	3	2	rs745319642		C3L-00009_TP	C3L-00009_NB	G	G																c.2762G>T	p.Arg921Leu	p.R921L	ENST00000397545	17/20	593	439	154	584	584	0	strelka-varscan-mutect	CCDC40,missense_variant,p.Arg921Leu,ENST00000397545,NM_017950.3;CCDC40,missense_variant,p.Arg921Leu,ENST00000374877,NM_001243342.1;CCDC40,non_coding_transcript_exon_variant,,ENST00000573903,;CCDC40,non_coding_transcript_exon_variant,,ENST00000572253,;CCDC40,non_coding_transcript_exon_variant,,ENST00000574799,;CCDC40,non_coding_transcript_exon_variant,,ENST00000575431,;CCDC40,downstream_gene_variant,,ENST00000574933,;	T	ENST00000397545	Transcript	missense_variant	2789/4294	2762/3429	921/1142	R/L	cGt/cTt	rs745319642,COSM4669947,COSM4669948	1		1	CCDC40	HGNC	HGNC:26090	protein_coding	YES	CCDS42395.1	ENSP00000380679	Q4G0X9		UPI0000201739	NM_017950.3	deleterious(0)		17/20		hmmpanther:PTHR16275											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs745319642	.												T	3	4	6	80089814	80089814	G	T	1	0	0	0	0	1	0	0	0	2521	1145	40	1		1	CCDC40	17	80089814	Missense_Mutation	SNP	G	C3L-00009_TP	3183761	80089814	3167627	281	2169											
MPPE1	0	.	GRCh38	chr18	11884518	11884518	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagaagcccaaagtgagtgAgtgtgaggaccacaaggaag	15	5	14	7	0	0	4	0	3	0	1	0	6	0	6	2	2	1	0	2	2	5	1	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.1118T>A	p.Leu373His	p.L373H	ENST00000588072	11/11	235	220	15	262	262	0	strelka-varscan-mutect	MPPE1,missense_variant,p.Leu373His,ENST00000588072,NM_023075.5;MPPE1,missense_variant,p.Leu310His,ENST00000317235,;MPPE1,missense_variant,p.Leu351His,ENST00000344987,;MPPE1,missense_variant,p.Leu310His,ENST00000309976,NM_001242904.1;GNAL,3_prime_UTR_variant,,ENST00000334049,NM_182978.3;GNAL,downstream_gene_variant,,ENST00000423027,;GNAL,downstream_gene_variant,,ENST00000269162,NM_001142339.2;GNAL,downstream_gene_variant,,ENST00000535121,NM_001261443.1;MPPE1,downstream_gene_variant,,ENST00000588191,;MPPE1,downstream_gene_variant,,ENST00000588186,;MPPE1,downstream_gene_variant,,ENST00000592977,;GNAL,downstream_gene_variant,,ENST00000602628,NM_001261444.1;MPPE1,downstream_gene_variant,,ENST00000589267,;MPPE1,downstream_gene_variant,,ENST00000587724,;MPPE1,downstream_gene_variant,,ENST00000592331,;MPPE1,non_coding_transcript_exon_variant,,ENST00000592755,;MPPE1,3_prime_UTR_variant,,ENST00000496196,;MPPE1,3_prime_UTR_variant,,ENST00000317251,;MPPE1,3_prime_UTR_variant,,ENST00000592306,;MPPE1,non_coding_transcript_exon_variant,,ENST00000592447,;MPPE1,downstream_gene_variant,,ENST00000589731,;MPPE1,downstream_gene_variant,,ENST00000592894,;	T	ENST00000588072	Transcript	missense_variant	2340/4236	1118/1191	373/396	L/H	cTc/cAc		1		-1	MPPE1	HGNC	HGNC:15988	protein_coding	YES	CCDS11853.1	ENSP00000465894	Q53F39		UPI000013DDD8	NM_023075.5	deleterious(0)		11/11		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR13315:SF0,hmmpanther:PTHR13315																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	11884518	11884518	A	T	1	0	0	0	0	1	0	0	0	9706	304	11	4		4	MPPE1	18	11884518	Missense_Mutation	SNP	A	C3L-00009_TP		11884518	68488767	282	2170											
NOL4	0	.	GRCh38	chr18	34104142	34104142	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcatgctggtcaccaaagTgggaggttttccattatctg	10	13	10	8	0	3	0	2	0	1	0	4	1	4	1	2	3	1	2	2	3	3	3	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.544A>G	p.Thr182Ala	p.T182A	ENST00000261592	4/11	194	169	25	247	247	0	strelka-mutect	NOL4,missense_variant,p.Thr182Ala,ENST00000261592,NM_003787.4;NOL4,missense_variant,p.Thr182Ala,ENST00000589544,NM_001198548.1;NOL4,missense_variant,p.Thr108Ala,ENST00000538587,NM_001198547.1;NOL4,missense_variant,p.Thr166Ala,ENST00000590712,NM_001198546.1;NOL4,non_coding_transcript_exon_variant,,ENST00000588280,;NOL4,non_coding_transcript_exon_variant,,ENST00000587971,;NOL4,non_coding_transcript_exon_variant,,ENST00000587953,;NOL4,3_prime_UTR_variant,,ENST00000586314,;NOL4,3_prime_UTR_variant,,ENST00000591917,;NOL4,downstream_gene_variant,,ENST00000586309,;	C	ENST00000261592	Transcript	missense_variant	842/3957	544/1917	182/638	T/A	Act/Gct		1		-1	NOL4	HGNC	HGNC:7870	protein_coding	YES	CCDS11907.2	ENSP00000261592	O94818		UPI000059D504	NM_003787.4	tolerated(0.15)		4/11		hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	34104142	34104142	T	C	1	0	0	0	0	1	0	0	0	10567	1696	59	5		5	NOL4	18	34104142	Missense_Mutation	SNP	T	C3L-00009_TP	22219624	34104142	46269143	283	2171											
CELF4	0	.	GRCh38	chr18	37273143	37273143	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcgcgactgatgccatcagGgccgcttgctgctgcatcag	6	9	13	13	3	2	1	2	1	0	0	2	2	2	1	2	1	5	4	2	1	0	1	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.822C>A	p.=	p.A274A	ENST00000420428	7/13	109	97	12	131	131	0	strelka-varscan-mutect	CELF4,synonymous_variant,p.=,ENST00000420428,NM_020180.3;CELF4,synonymous_variant,p.=,ENST00000591287,;CELF4,synonymous_variant,p.=,ENST00000334919,NM_001025089.1;CELF4,synonymous_variant,p.=,ENST00000603232,NM_001025087.1;CELF4,synonymous_variant,p.=,ENST00000361795,NM_001025088.1;CELF4,synonymous_variant,p.=,ENST00000601019,;CELF4,synonymous_variant,p.=,ENST00000591282,;CELF4,synonymous_variant,p.=,ENST00000588597,;CELF4,synonymous_variant,p.=,ENST00000601392,;CELF4,synonymous_variant,p.=,ENST00000587819,;CELF4,synonymous_variant,p.=,ENST00000589229,;CELF4,upstream_gene_variant,,ENST00000588591,;CELF4,upstream_gene_variant,,ENST00000586009,;CELF4,upstream_gene_variant,,ENST00000589386,;CELF4,upstream_gene_variant,,ENST00000593271,;CELF4,upstream_gene_variant,,ENST00000587657,;CELF4,downstream_gene_variant,,ENST00000587924,;RP11-797E24.3,upstream_gene_variant,,ENST00000586610,;RP11-797E24.3,upstream_gene_variant,,ENST00000588766,;CELF4,non_coding_transcript_exon_variant,,ENST00000587074,;CELF4,3_prime_UTR_variant,,ENST00000590112,;CELF4,non_coding_transcript_exon_variant,,ENST00000591421,;	T	ENST00000420428	Transcript	synonymous_variant	1218/4052	822/1461	274/486	A	gcC/gcA		1		-1	CELF4	HGNC	HGNC:14015	protein_coding	YES	CCDS32818.1	ENSP00000410584	Q9BZC1		UPI00000726FC	NM_020180.3			7/13		Low_complexity_(Seg):seg																	LOW		SNV	5			1										PASS		.	.												T	2	4	6	37273143	37273143	G	T	1	0	0	0	0	0	0	0	1	2925	1219	43	2		2	CELF4	18	37273143	Silent	SNP	G	C3L-00009_TP	3169001	37273143	43100142	284	2172											
DCC	0	.	GRCh38	chr18	53530634	53530634	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaagcagcttaatgccaTcacaggctcagccttttaac	12	10	7	12	0	2	1	2	1	0	0	2	1	2	1	2	1	5	3	2	1	3	3	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.4325T>A	p.Ile1442Asn	p.I1442N	ENST00000442544	29/29	483	414	69	634	633	1	strelka-varscan-mutect	DCC,missense_variant,p.Ile1442Asn,ENST00000442544,NM_005215.3;DCC,missense_variant,p.Ile1419Asn,ENST00000412726,;DCC,downstream_gene_variant,,ENST00000581580,;RP11-671P2.1,intron_variant,,ENST00000582064,;DCC,downstream_gene_variant,,ENST00000577224,;DCC,downstream_gene_variant,,ENST00000579702,;	A	ENST00000442544	Transcript	missense_variant	4941/10206	4325/4344	1442/1447	I/N	aTc/aAc		1		1	DCC	HGNC	HGNC:2701	protein_coding	YES	CCDS11952.1	ENSP00000389140	P43146		UPI00001AEDC6	NM_005215.3	deleterious(0)		29/29		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06583,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF68																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	53530634	53530634	T	A	1	0	0	0	0	1	0	0	0	4084	1435	50	4		4	DCC	18	53530634	Missense_Mutation	SNP	T	C3L-00009_TP	16257491	53530634	26842651	285	2173											
ZNF407	0	.	GRCh38	chr18	74877302	74877302	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtttaaatgtacctggccCacgtgccattactcattcct	8	13	6	14	2	1	0	1	0	0	0	2	0	2	0	5	1	3	2	5	1	4	5	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.4983C>G	p.=	p.P1661P	ENST00000299687	4/8	158	150	8	227	227	0	strelka-varscan-mutect	ZNF407,synonymous_variant,p.=,ENST00000299687,NM_017757.2;ZNF407,synonymous_variant,p.=,ENST00000577538,NM_001146189.1;ZNF407,synonymous_variant,p.=,ENST00000584235,;ZNF407,synonymous_variant,p.=,ENST00000581829,;	G	ENST00000299687	Transcript	synonymous_variant	4983/7948	4983/6747	1661/2248	P	ccC/ccG		1		1	ZNF407	HGNC	HGNC:19904	protein_coding	YES	CCDS45885.1	ENSP00000299687	Q9C0G0		UPI0000F58ED1	NM_017757.2			4/8		PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF5,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	6	74877302	74877302	C	G	1	0	0	0	0	0	0	0	1	18459	581	21	4		4	ZNF407	18	74877302	Silent	SNP	C	C3L-00009_TP	21346668	74877302	5495983	286	2174											
ZNF236	0	.	GRCh38	chr18	76899190	76899190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattccagtccctgatattcCtttgcaggaaccaatcctca	10	13	5	13	0	1	1	1	1	0	0	5	2	5	2	5	1	2	1	5	1	4	5	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.1862C>T	p.Pro621Leu	p.P621L	ENST00000320610	11/31	160	138	22	259	259	0	strelka-varscan-mutect	ZNF236,missense_variant,p.Pro619Leu,ENST00000253159,NM_007345.3;ZNF236,missense_variant,p.Pro621Leu,ENST00000320610,NM_001306089.1;ZNF236,downstream_gene_variant,,ENST00000584565,;ZNF236,missense_variant,p.Pro619Leu,ENST00000543926,;ZNF236,downstream_gene_variant,,ENST00000583488,;	T	ENST00000320610	Transcript	missense_variant	1863/7124	1862/5544	621/1847	P/L	cCt/cTt		1		1	ZNF236	HGNC	HGNC:13028	protein_coding	YES	CCDS77201.1	ENSP00000322361		J9JID5	UPI000268B415	NM_001306089.1	deleterious(0.01)		11/31		hmmpanther:PTHR24396:SF21,hmmpanther:PTHR24396																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	76899190	76899190	C	T	1	0	0	0	0	1	0	0	0	18366	681	24	3		3	ZNF236	18	76899190	Missense_Mutation	SNP	C	C3L-00009_TP	2021888	76899190	3474095	287	2175											
KEAP1	0	.	GRCh38	chr19	10486719	10486719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgacagccacgcccaccCcactccggcccgatgtcatt	7	7	9	18	3	1	1	1	1	0	0	2	2	2	1	6	2	1	0	6	2	0	1	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.1808G>T	p.Gly603Val	p.G603V	ENST00000171111	6/6	244	203	41	315	315	0	strelka-varscan-mutect	KEAP1,missense_variant,p.Gly603Val,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Gly603Val,ENST00000393623,NM_012289.3;KEAP1,missense_variant,p.Gly151Val,ENST00000592478,;CTC-429L19.3,downstream_gene_variant,,ENST00000592671,;KEAP1,3_prime_UTR_variant,,ENST00000590593,;KEAP1,non_coding_transcript_exon_variant,,ENST00000590237,;	A	ENST00000171111	Transcript	missense_variant	2356/2955	1808/1875	603/624	G/V	gGg/gTg		1		-1	KEAP1	HGNC	HGNC:23177	protein_coding	YES	CCDS12239.1	ENSP00000171111	Q14145	A0A024R7C0	UPI000007139C	NM_203500.1	deleterious(0)		6/6		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	6	10486719	10486719	C	A	1	0	0	0	0	1	0	0	0	8061	623	22	2		2	KEAP1	19	10486719	Missense_Mutation	SNP	C	C3L-00009_TP		10486719	48130897	288	2176											
SLC7A9	0	.	GRCh38	chr19	32859911	32859911	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaggacacgttcatgaggAtgtagcacgccgtcaccagg	11	7	13	10	3	2	1	2	1	0	0	2	3	2	3	2	3	1	4	2	3	2	3	rs751210035		C3L-00009_TP	C3L-00009_NB	A	A																c.803T>A	p.Ile268Asn	p.I268N	ENST00000023064	8/13	613	578	35	542	542	0	strelka-varscan-mutect	SLC7A9,missense_variant,p.Ile268Asn,ENST00000023064,NM_001243036.1,NM_001126335.1,NM_014270.4;SLC7A9,missense_variant,p.Ile268Asn,ENST00000590341,;SLC7A9,missense_variant,p.Ile268Asn,ENST00000587772,;RN7SKP22,downstream_gene_variant,,ENST00000365097,;SLC7A9,3_prime_UTR_variant,,ENST00000590465,;SLC7A9,3_prime_UTR_variant,,ENST00000592232,;SLC7A9,non_coding_transcript_exon_variant,,ENST00000589659,;	T	ENST00000023064	Transcript	missense_variant	995/1761	803/1464	268/487	I/N	aTc/aAc	rs751210035	1		-1	SLC7A9	HGNC	HGNC:11067	protein_coding	YES	CCDS12425.1	ENSP00000023064	P82251		UPI0000037773	NM_001243036.1,NM_001126335.1,NM_014270.4	deleterious(0)		8/13		Transmembrane_helices:TMhelix,hmmpanther:PTHR11785:SF354,hmmpanther:PTHR11785,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060																	MODERATE	1	SNV	1			1										PASS		rs751210035	.												T	3	4	6	32859911	32859911	A	T	1	0	0	0	0	1	0	0	0	14988	333	12	4		4	SLC7A9	19	32859911	Missense_Mutation	SNP	A	C3L-00009_TP	22373192	32859911	25757705	289	2177											
KMT2B	0	.	GRCh38	chr19	35738304	35738304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgggtgctatatgttccGcatggatgactttgatgtag	8	14	12	7	2	0	2	0	2	0	0	2	3	1	3	1	2	1	4	1	2	3	5	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.7895G>T	p.Arg2632Leu	p.R2632L	ENST00000420124	37/37	249	209	40	283	282	1	strelka-varscan-mutect	KMT2B,missense_variant,p.Arg2632Leu,ENST00000420124,NM_014727.2;IGFLR1,downstream_gene_variant,,ENST00000246532,;IGFLR1,downstream_gene_variant,,ENST00000592537,NM_024660.2;U2AF1L4,downstream_gene_variant,,ENST00000412391,;IGFLR1,downstream_gene_variant,,ENST00000592889,;U2AF1L4,downstream_gene_variant,,ENST00000378975,NM_001040425.2;IGFLR1,downstream_gene_variant,,ENST00000588992,;U2AF1L4,downstream_gene_variant,,ENST00000292879,NM_144987.3;IGFLR1,downstream_gene_variant,,ENST00000591277,;IGFLR1,downstream_gene_variant,,ENST00000591748,;IGFLR1,downstream_gene_variant,,ENST00000586140,;IGFLR1,downstream_gene_variant,,ENST00000587101,;KMT2B,non_coding_transcript_exon_variant,,ENST00000585476,;KMT2B,non_coding_transcript_exon_variant,,ENST00000586308,;U2AF1L4,downstream_gene_variant,,ENST00000588892,;U2AF1L4,downstream_gene_variant,,ENST00000588980,;U2AF1L4,downstream_gene_variant,,ENST00000586476,;AD000671.6,downstream_gene_variant,,ENST00000589807,;U2AF1L4,downstream_gene_variant,,ENST00000590135,;U2AF1L4,downstream_gene_variant,,ENST00000585554,;IGFLR1,downstream_gene_variant,,ENST00000588018,;U2AF1L4,downstream_gene_variant,,ENST00000587987,;U2AF1L4,downstream_gene_variant,,ENST00000592913,;KMT2B,downstream_gene_variant,,ENST00000592092,;U2AF1L4,downstream_gene_variant,,ENST00000591855,;U2AF1L4,downstream_gene_variant,,ENST00000591084,;U2AF1L4,downstream_gene_variant,,ENST00000594792,;IGFLR1,downstream_gene_variant,,ENST00000592693,;U2AF1L4,downstream_gene_variant,,ENST00000591057,;IGFLR1,downstream_gene_variant,,ENST00000589175,;U2AF1L4,downstream_gene_variant,,ENST00000589429,;U2AF1L4,downstream_gene_variant,,ENST00000600296,;	T	ENST00000420124	Transcript	missense_variant	7895/8469	7895/8148	2632/2715	R/L	cGc/cTc		1		1	KMT2B	HGNC	HGNC:15840	protein_coding	YES	CCDS46055.1	ENSP00000398837	Q9UMN6		UPI00001376B5	NM_014727.2	deleterious(0)		37/37		Gene3D:2.170.270.10,Pfam_domain:PF00856,PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF341,SMART_domains:SM00317,Superfamily_domains:SSF82199																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	35738304	35738304	G	T	1	0	0	0	0	1	0	0	0	8296	1087	38	1		1	KMT2B	19	35738304	Missense_Mutation	SNP	G	C3L-00009_TP	2878393	35738304	22879312	290	2178											
ZNF850	0	.	GRCh38	chr19	36748020	36748021	+	Frame_Shift_Ins	INS	-	-	A																															ttccttacaatcataaggttINStctcaccagtgtgagttcgc																								novel		C3L-00009_TP	C3L-00009_NB	-	-																c.3019_3020insT	p.Lys1007IlefsTer4	p.K1007Ifs*4	ENST00000591344	5/5	202	185	17	187	187	0	sindel-varindel-pindel	ZNF850,frameshift_variant,p.Lys1007IlefsTer4,ENST00000591344,NM_001193552.1;ZNF850,frameshift_variant,p.Lys975IlefsTer4,ENST00000614887,NM_001267779.1;ZNF850,intron_variant,,ENST00000589390,;	A	ENST00000591344	Transcript	frameshift_variant	3178-3179/7714	3019-3020/3273	1007/1090	K/IX	aaa/aTaa		1		-1	ZNF850	HGNC	HGNC:27994	protein_coding	YES	CCDS59379.1	ENSP00000464976	A8MQ14		UPI00001D815D	NM_001193552.1			5/5		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF167,Superfamily_domains:SSF57667																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	6	36748020	36748020	-	A	1	0	1	1	0	0	0	0	0	18782	1841	64	0		0	ZNF850	19	36748020	Frame_Shift_Ins	INS	-	C3L-00009_TP	1009716	36748020	21869596	291	2179											
ZNF229	0	.	GRCh38	chr19	44429439	44429439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgctggtgtttgtgcaGtgcagacttggcacagaagc	9	11	14	7	0	0	2	0	0	0	2	0	2	0	2	0	2	4	5	0	2	2	2	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1342C>A	p.Leu448Met	p.L448M	ENST00000614049	6/6	172	139	33	257	256	1	strelka-varscan-mutect	ZNF229,missense_variant,p.Leu442Met,ENST00000613197,NM_001278510.2;ZNF229,missense_variant,p.Leu448Met,ENST00000614049,NM_014518.3;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000620012,;	T	ENST00000614049	Transcript	missense_variant	1776/4507	1342/2478	448/825	L/M	Ctg/Atg		1		-1	ZNF229	HGNC	HGNC:13022	protein_coding	YES	CCDS42574.1	ENSP00000479884	Q9UJW7		UPI0001747B51	NM_014518.3	deleterious(0.01)		6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF348,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	44429439	44429439	G	T	1	0	0	0	0	1	0	0	0	18359	1020	36	2		2	ZNF229	19	44429439	Missense_Mutation	SNP	G	C3L-00009_TP	7681419	44429439	14188177	292	2180											
ACPT	0	.	GRCh38	chr19	50794843	50794843	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccacctgcccctgcctctCagcctccccgggtgcccggc	2	6	10	23	2	1	0	1	0	1	0	3	0	2	0	9	2	4	0	9	2	0	0	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.1044C>T	p.=	p.L348L	ENST00000270593	10/11	99	92	7	111	111	0	strelka-varscan-mutect	ACPT,synonymous_variant,p.=,ENST00000270593,NM_033068.2;C19orf48,downstream_gene_variant,,ENST00000598463,NM_001290149.1;C19orf48,downstream_gene_variant,,ENST00000345523,NM_001290152.1,NM_001290155.1,NM_199250.2,NM_001290151.1,NM_001290150.1;C19orf48,downstream_gene_variant,,ENST00000391812,NM_199249.2,NM_001290154.1,NM_001290153.1;C19orf48,downstream_gene_variant,,ENST00000596655,NM_032712.2;C19orf48,downstream_gene_variant,,ENST00000597493,;C19orf48,downstream_gene_variant,,ENST00000597705,;C19orf48,downstream_gene_variant,,ENST00000596287,;C19orf48,downstream_gene_variant,,ENST00000601267,;C19orf48,downstream_gene_variant,,ENST00000600373,;C19orf48,downstream_gene_variant,,ENST00000593287,;CTD-2568A17.1,upstream_gene_variant,,ENST00000636757,;SNORD88A,downstream_gene_variant,,ENST00000408314,;SNORD88B,downstream_gene_variant,,ENST00000408454,;CTD-2568A17.8,upstream_gene_variant,,ENST00000594114,;C19orf48,downstream_gene_variant,,ENST00000595794,;C19orf48,downstream_gene_variant,,ENST00000599004,;C19orf48,downstream_gene_variant,,ENST00000596554,;	T	ENST00000270593	Transcript	synonymous_variant	1044/1347	1044/1281	348/426	L	ctC/ctT		1		1	ACPT	HGNC	HGNC:14376	protein_coding	YES	CCDS12802.1	ENSP00000270593	Q9BZG2		UPI0000048D54	NM_033068.2			10/11		hmmpanther:PTHR11567,hmmpanther:PTHR11567:SF110,Gene3D:3.40.50.1240,Superfamily_domains:SSF53254																	LOW		SNV	2			1										PASS		.	.												T	2	4	6	50794843	50794843	C	T	1	0	0	0	0	0	0	0	1	210	813	29	3		3	ACPT	19	50794843	Silent	SNP	C	C3L-00009_TP	6365404	50794843	7822773	293	2181											
FPR1	0	.	GRCh38	chr19	51746646	51746646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtccagagcaatgagggCgatcaggaagacacttccga	12	5	14	10	3	1	3	1	1	0	2	3	6	3	4	2	3	1	1	2	3	2	1	rs547228145		C3L-00009_TP	C3L-00009_NB	C	C																c.349G>T	p.Ala117Ser	p.A117S	ENST00000595042	3/3	348	328	20	373	372	1	strelka-varscan-mutect	FPR1,missense_variant,p.Ala117Ser,ENST00000595042,NM_001193306.1;FPR1,missense_variant,p.Ala117Ser,ENST00000304748,NM_002029.3;FPR1,missense_variant,p.Ala117Ser,ENST00000600815,;FPR1,downstream_gene_variant,,ENST00000594900,;	A	ENST00000595042	Transcript	missense_variant	491/1965	349/1053	117/350	A/S	Gcc/Tcc	rs547228145,COSM475129	1		-1	FPR1	HGNC	HGNC:3826	protein_coding	YES	CCDS12839.1	ENSP00000471493	P21462		UPI0000050484	NM_001193306.1	tolerated(0.12)		3/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24225:SF15,hmmpanther:PTHR24225,PROSITE_patterns:PS00237,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs547228145	.												A	3	1	6	51746646	51746646	C	A	1	0	0	0	0	1	0	0	0	5904	768	27	1		1	FPR1	19	51746646	Missense_Mutation	SNP	C	C3L-00009_TP	951803	51746646	6870970	294	2182											
ZNF836	0	.	GRCh38	chr19	52156800	52156800	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtttctctccagtgtgacTtctccggtgatttacaagat	7	15	9	10	2	2	3	0	2	2	1	5	3	3	3	2	2	1	1	2	2	2	4	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.883A>T	p.Ser295Cys	p.S295C	ENST00000597252	5/5	237	143	94	254	254	0	strelka-varscan-mutect	ZNF836,missense_variant,p.Ser295Cys,ENST00000597252,NM_001102657.1;ZNF836,missense_variant,p.Ser295Cys,ENST00000322146,;ZNF836,downstream_gene_variant,,ENST00000597065,;ZNF836,downstream_gene_variant,,ENST00000596428,;CTC-471J1.8,intron_variant,,ENST00000594362,;CTC-471J1.8,intron_variant,,ENST00000598982,;ZNF836,upstream_gene_variant,,ENST00000599618,;	A	ENST00000597252	Transcript	missense_variant	1257/3209	883/2811	295/936	S/C	Agt/Tgt		1		-1	ZNF836	HGNC	HGNC:34333	protein_coding	YES	CCDS46162.1	ENSP00000470239	Q6ZNA1		UPI00001D818C	NM_001102657.1	tolerated(0.12)		5/5		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF330,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	6	52156800	52156800	T	A	1	0	0	0	0	1	0	0	0	18772	1609	56	4		4	ZNF836	19	52156800	Missense_Mutation	SNP	T	C3L-00009_TP	410154	52156800	6460816	295	2183											
ZNF415	0	.	GRCh38	chr19	53108738	53108738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacacttgtaaggtttctctCcagtatgaactctccgatga	10	14	7	10	1	2	2	0	2	2	0	5	3	3	2	2	1	2	3	2	1	4	5			C3L-00009_TP	C3L-00009_NB	C	C																c.1307G>A	p.Gly436Glu	p.G436E	ENST00000500065	4/4	355	328	27	322	322	0	strelka-varscan-mutect	ZNF415,missense_variant,p.Gly436Glu,ENST00000500065,NM_001136038.2;ZNF415,missense_variant,p.Gly436Glu,ENST00000421033,NM_001164309.1;ZNF415,missense_variant,p.Gly436Glu,ENST00000243643,NM_018355.3;ZNF415,missense_variant,p.Gly206Glu,ENST00000601493,;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,downstream_gene_variant,,ENST00000601110,;ZNF415,downstream_gene_variant,,ENST00000595813,;ZNF415,downstream_gene_variant,,ENST00000601215,;ZNF415,downstream_gene_variant,,ENST00000595174,;ZNF415,downstream_gene_variant,,ENST00000595359,;ZNF415,downstream_gene_variant,,ENST00000602024,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;	T	ENST00000500065	Transcript	missense_variant	1641/2496	1307/1668	436/555	G/E	gGa/gAa	COSM4862813,COSM712945	1		-1	ZNF415	HGNC	HGNC:20636	protein_coding	YES	CCDS54313.1	ENSP00000439435	Q09FC8		UPI0000E04BC1	NM_001136038.2	deleterious(0.04)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF145,hmmpanther:PTHR24377,Gene3D:3.30.160.60,SMART_domains:SM00614,Superfamily_domains:SSF57667											1,1						MODERATE	1	SNV	4		1,1	1										PASS		.	.												T	3	4	6	53108738	53108738	C	T	1	0	0	0	0	1	0	0	0	18464	855	30	3		3	ZNF415	19	53108738	Missense_Mutation	SNP	C	C3L-00009_TP	951938	53108738	5508878	296	2184											
LILRB5	0	.	GRCh38	chr19	54250834	54250834	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggttcagctggaggttcCctttcctgggatggaggagg	5	11	17	8	0	1	0	1	0	0	0	3	4	3	4	2	7	1	3	2	7	0	3	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.1728G>A	p.=	p.R576R	ENST00000449561	13/13	346	151	195	344	344	0	strelka-varscan-mutect	LILRB5,synonymous_variant,p.=,ENST00000316219,NM_006840.4;LILRB5,synonymous_variant,p.=,ENST00000449561,NM_001081442.2,NM_001304457.1;LILRB5,synonymous_variant,p.=,ENST00000345866,NM_001081443.2;LILRB5,non_coding_transcript_exon_variant,,ENST00000621581,;LILRB5,non_coding_transcript_exon_variant,,ENST00000615654,;RPS9,downstream_gene_variant,,ENST00000448962,;AC010492.4,upstream_gene_variant,,ENST00000506567,;	T	ENST00000449561	Transcript	synonymous_variant	1799/2137	1728/1776	576/591	R	agG/agA		1		-1	LILRB5	HGNC	HGNC:6609	protein_coding	YES	CCDS46176.1	ENSP00000406478	O75023		UPI00034F239B	NM_001081442.2,NM_001304457.1			13/13		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF108																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	6	54250834	54250834	C	T	1	0	0	0	0	0	0	0	1	8702	622	22	3		3	LILRB5	19	54250834	Silent	SNP	C	C3L-00009_TP	1142096	54250834	4366782	297	2185											
LILRB2	0	.	GRCh38	chr19	54277595	54277595	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgaggggctggtcctcagGgcctgctgggtcaggacggg	4	7	21	9	1	2	1	2	1	0	0	3	2	3	2	2	8	1	2	2	8	0	0	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1315C>G	p.Pro439Ala	p.P439A	ENST00000391749	9/14	170	146	24	169	169	0	varscan-mutect	LILRB2,missense_variant,p.Pro438Ala,ENST00000391748,NM_001278403.2;LILRB2,missense_variant,p.Pro323Ala,ENST00000434421,NM_001278404.2;LILRB2,missense_variant,p.Pro438Ala,ENST00000314446,NM_001080978.3;LILRB2,missense_variant,p.Pro439Ala,ENST00000391749,NM_005874.4;LILRB2,missense_variant,p.Pro439Ala,ENST00000391746,NM_001278405.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,missense_variant,p.Pro115Ala,ENST00000455108,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;	C	ENST00000391749	Transcript	missense_variant	1587/2286	1315/1797	439/598	P/A	Cct/Gct		1		-1	LILRB2	HGNC	HGNC:6606	protein_coding	YES	CCDS12886.1	ENSP00000375629	Q8N423		UPI00034F23A2	NM_005874.4	tolerated(0.08)		9/14		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	54277595	54277595	G	C	1	0	0	0	0	1	0	0	0	8699	1246	43	4		4	LILRB2	19	54277595	Missense_Mutation	SNP	G	C3L-00009_TP	26761	54277595	4340021	298	2186											
ZNF835	0	.	GRCh38	chr19	56664873	56664873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtccccgcatttccacGgcttcttggggcctccacct	4	10	9	18	3	1	0	0	0	1	0	4	0	4	0	6	3	0	3	6	3	0	3	rs576625581		C3L-00009_TP	C3L-00009_NB	G	G																c.326C>T	p.Pro109Leu	p.P109L	ENST00000537055	2/2	413	326	87	617	617	0	strelka-varscan-mutect	ZNF835,missense_variant,p.Pro109Leu,ENST00000537055,NM_001005850.2;ZNF835,downstream_gene_variant,,ENST00000601659,;	A	ENST00000537055	Transcript	missense_variant	558/3450	326/1614	109/537	P/L	cCg/cTg	rs576625581	1		-1	ZNF835	HGNC	HGNC:34332	protein_coding	YES	CCDS56105.1	ENSP00000444747	Q9Y2P0		UPI0000EE7244	NM_001005850.2	tolerated(0.24)		2/2		Gene3D:3.30.160.60,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF368,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		rs576625581	.												A	3	1	6	56664873	56664873	G	A	1	0	0	0	0	1	0	0	0	18771	1116	39	1		1	ZNF835	19	56664873	Missense_Mutation	SNP	G	C3L-00009_TP	2387278	56664873	1952743	299	2187											
ZSCAN4	0	.	GRCh38	chr19	57678749	57678749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccttcagccacaaaaccaaCctgcggtctcatgagagaat	13	8	7	13	1	2	2	2	1	1	1	4	3	3	2	4	1	4	0	4	1	4	1	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.1146C>A	p.Asn382Lys	p.N382K	ENST00000318203	5/5	182	128	54	256	256	0	strelka-varscan-mutect	ZSCAN4,missense_variant,p.Asn382Lys,ENST00000318203,NM_152677.2;ZSCAN4,missense_variant,p.Asn382Lys,ENST00000612521,;ZNF551,upstream_gene_variant,,ENST00000282296,NM_138347.4;ZNF551,upstream_gene_variant,,ENST00000601064,NM_001270938.1;AC003006.7,upstream_gene_variant,,ENST00000594684,;ZNF551,upstream_gene_variant,,ENST00000596085,;ZNF551,upstream_gene_variant,,ENST00000599402,;AC003006.7,upstream_gene_variant,,ENST00000599221,;	A	ENST00000318203	Transcript	missense_variant	1843/2246	1146/1302	382/433	N/K	aaC/aaA		1		1	ZSCAN4	HGNC	HGNC:23709	protein_coding	YES	CCDS12958.1	ENSP00000321963	Q8NAM6		UPI000006E923	NM_152677.2	deleterious(0)		5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF45,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE		SNV	2			1										PASS		rs1171193212	.												A	3	1	6	57678749	57678749	C	A	1	0	0	0	0	1	0	0	0	18836	506	18	2		2	ZSCAN4	19	57678749	Missense_Mutation	SNP	C	C3L-00009_TP	1013876	57678749	938867	300	2188											
ADRA1D	0	.	GRCh38	chr20	4248624	4248624	+	Frame_Shift_Del	DEL	C	C	-																															gatgacaagcaggttacctgCcacggccataaggatgaagg																								novel		C3L-00009_TP	C3L-00009_NB	C	C																c.334delG	p.Ala112GlnfsTer25	p.A112Qfs*25	ENST00000379453	1/2	237	187	50	417	417	0	sindel-varindel-pindel	ADRA1D,frameshift_variant,p.Ala112GlnfsTer25,ENST00000379453,NM_000678.3;	-	ENST00000379453	Transcript	frameshift_variant	451/2728	334/1719	112/572	A/X	Gca/ca		1		-1	ADRA1D	HGNC	HGNC:280	protein_coding	YES	CCDS13079.1	ENSP00000368766	P25100	B0ZBE0	UPI000003B078	NM_000678.3			1/2		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF14,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	6	4248624	4248624	C	-	1	0	1	0	1	0	0	0	0	412	739	26	0		0	ADRA1D	20	4248624	Frame_Shift_Del	DEL	C	C3L-00009_TP		4248624	60195543	301	2189											
PAX1	0	.	GRCh38	chr20	21709376	21709376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctcctctggcgccccccgGggccggcgtagctgtgcatg	2	8	14	17	4	1	0	0	0	1	0	3	0	3	0	6	4	2	3	6	4	1	1	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1214G>T	p.Gly405Val	p.G405V	ENST00000398485	4/5	130	104	26	181	181	0	strelka-varscan-mutect	PAX1,missense_variant,p.Gly405Val,ENST00000613128,NM_001257096.1;PAX1,missense_variant,p.Gly405Val,ENST00000398485,NM_006192.4;PAX1,missense_variant,p.Gly381Val,ENST00000444366,;PAX1,non_coding_transcript_exon_variant,,ENST00000460221,;PAX1,downstream_gene_variant,,ENST00000485038,;	T	ENST00000398485	Transcript	missense_variant	1268/2838	1214/1605	405/534	G/V	gGg/gTg		1		1	PAX1	HGNC	HGNC:8615	protein_coding	YES	CCDS13146.2	ENSP00000381499	P15863		UPI000179A786	NM_006192.4	deleterious_low_confidence(0)		4/5		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	6	21709376	21709376	G	T	1	0	0	0	0	1	0	0	0	11563	1232	43	2		2	PAX1	20	21709376	Missense_Mutation	SNP	G	C3L-00009_TP	17460752	21709376	42734791	302	2190											
PTPRT	0	.	GRCh38	chr20	42248737	42248737	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaatgatgatgaacatgagGaggccagcgatcacgccagc	14	5	13	9	2	1	5	1	4	0	1	1	7	1	6	2	2	3	0	2	2	2	0	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.2319C>A	p.=	p.L773L	ENST00000373198	15/32	143	121	22	185	184	1	strelka-varscan-mutect	PTPRT,synonymous_variant,p.=,ENST00000373198,NM_133170.3;PTPRT,synonymous_variant,p.=,ENST00000373193,;PTPRT,synonymous_variant,p.=,ENST00000373201,;PTPRT,synonymous_variant,p.=,ENST00000373190,;PTPRT,synonymous_variant,p.=,ENST00000373184,;PTPRT,synonymous_variant,p.=,ENST00000356100,;PTPRT,synonymous_variant,p.=,ENST00000373187,NM_007050.5;PTPRT,synonymous_variant,p.=,ENST00000612229,;PTPRT,synonymous_variant,p.=,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	T	ENST00000373198	Transcript	synonymous_variant	2555/12746	2319/4383	773/1460	L	ctC/ctA		1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3			15/32		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	6	42248737	42248737	G	T	1	0	0	0	0	0	0	0	1	12967	1161	41	2		2	PTPRT	20	42248737	Silent	SNP	G	C3L-00009_TP	20539361	42248737	22195430	303	2191											
EDN3	0	.	GRCh38	chr20	59300822	59300822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatctaggttcatggagccgGggctgtggctccttttcggg	4	12	16	9	2	2	0	1	0	1	0	4	2	3	1	2	6	1	3	2	6	1	4	rs567434377		C3L-00009_TP	C3L-00009_NB	G	G																c.10G>T	p.Gly4Trp	p.G4W	ENST00000337938	1/5	277	222	55	353	353	0	strelka-varscan-mutect	EDN3,missense_variant,p.Gly4Trp,ENST00000311585,NM_207032.2;EDN3,missense_variant,p.Gly4Trp,ENST00000337938,NM_001302455.1,NM_207034.2;EDN3,missense_variant,p.Gly4Trp,ENST00000371028,;EDN3,missense_variant,p.Gly4Trp,ENST00000395654,NM_207033.2;EDN3,missense_variant,p.Gly4Trp,ENST00000371025,NM_001302456.1;	T	ENST00000337938	Transcript	missense_variant	396/2636	10/717	4/238	G/W	Ggg/Tgg	rs567434377	1		1	EDN3	HGNC	HGNC:3178	protein_coding	YES	CCDS13477.1	ENSP00000337128	P14138		UPI000012A221	NM_001302455.1,NM_207034.2	deleterious(0)		1/5		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR13874,hmmpanther:PTHR13874:SF11																	MODERATE	1	SNV	1			1										PASS		rs567434377	.												T	3	4	6	59300822	59300822	G	T	1	0	0	0	0	1	0	0	0	4746	1232	43	2		2	EDN3	20	59300822	Missense_Mutation	SNP	G	C3L-00009_TP	17052085	59300822	5143345	304	2192											
BACH1	0	.	GRCh38	chr21	29326059	29326059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttattttgtgtatcaacagGtgacagttaaaggatttgaa	13	16	9	3	0	1	2	1	2	0	0	1	3	1	3	0	2	1	2	0	2	6	7	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.235G>T	p.Val79Leu	p.V79L	ENST00000399921	3/5	50	41	9	55	55	0	strelka-varscan-mutect	BACH1,missense_variant,p.Val79Leu,ENST00000399921,NM_206866.2;BACH1,missense_variant,p.Val79Leu,ENST00000286800,NM_001186.3;BACH1,missense_variant,p.Val79Leu,ENST00000451655,;BACH1,missense_variant,p.Val79Leu,ENST00000447177,;BACH1,missense_variant,p.Val79Leu,ENST00000435072,;BACH1,upstream_gene_variant,,ENST00000422809,;BACH1,upstream_gene_variant,,ENST00000468059,;BACH1,downstream_gene_variant,,ENST00000546469,;BACH1,downstream_gene_variant,,ENST00000550131,;BACH1,downstream_gene_variant,,ENST00000548219,;BACH1,downstream_gene_variant,,ENST00000547141,;BACH1,downstream_gene_variant,,ENST00000548467,;	T	ENST00000399921	Transcript	missense_variant,splice_region_variant	478/5769	235/2211	79/736	V/L	Gtg/Ttg		1		1	BACH1	HGNC	HGNC:935	protein_coding	YES	CCDS13585.1	ENSP00000382805	O14867		UPI000012673F	NM_206866.2	deleterious(0)		3/5		PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF176,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	29326059	29326059	G	T	1	0	0	0	0	1	0	0	0	1441	1275	44	2		2	BACH1	21	29326059	Missense_Mutation	SNP	G	C3L-00009_TP		29326059	17383924	305	2193											
KRTAP8-1	0	.	GRCh38	chr21	30813078	30813078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtagccgaaagccccacagCcgttgtagccatagccgaag	11	6	11	13	3	0	0	0	0	0	0	0	2	0	0	6	0	5	3	6	0	5	4	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.143G>T	p.Gly48Val	p.G48V	ENST00000329621	1/1	215	194	21	274	273	1	strelka-varscan-mutect	KRTAP8-1,missense_variant,p.Gly48Val,ENST00000329621,NM_175857.3;	A	ENST00000329621	Transcript	missense_variant	175/556	143/192	48/63	G/V	gGc/gTc		1		-1	KRTAP8-1	HGNC	HGNC:18935	protein_coding	YES	CCDS13607.1	ENSP00000332805	Q8IUC2		UPI00000747A5	NM_175857.3	deleterious_low_confidence(0.02)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR36131,Pfam_domain:PF11759,PD027172																	MODERATE	1	SNV				1										PASS		rs925971216	.												A	3	1	6	30813078	30813078	C	A	1	0	0	0	0	1	0	0	0	8468	739	26	2		2	KRTAP8-1	21	30813078	Missense_Mutation	SNP	C	C3L-00009_TP	1487019	30813078	15896905	306	2194											
ITSN1	0	.	GRCh38	chr21	33882339	33882339	+	Missense_Mutation	SNP	G	G	T																															agagcaacaaggagctgtatGgcttccttttcaacgacttc																								novel		C3L-00009_TP	C3L-00009_NB	G	G																c.4438G>T	p.Gly1480Cys	p.G1480C	ENST00000381318	35/40	333	295	38	464	464	0	strelka-varscan-mutect	ITSN1,missense_variant,p.Gly1480Cys,ENST00000381318,NM_003024.2;ITSN1,missense_variant,p.Gly1475Cys,ENST00000399367,;ITSN1,missense_variant,p.Gly160Cys,ENST00000381284,;ITSN1,3_prime_UTR_variant,,ENST00000381285,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,intron_variant,,ENST00000415023,;ITSN1,intron_variant,,ENST00000420666,;	T	ENST00000381318	Transcript	missense_variant	4726/17015	4438/5166	1480/1721	G/C	Ggc/Tgc		1		1	ITSN1	HGNC	HGNC:6183	protein_coding	YES	CCDS33545.1	ENSP00000370719	Q15811		UPI00001403C6	NM_003024.2	deleterious(0.02)		35/40		PROSITE_profiles:PS50003,Gene3D:2.30.29.30,Pfam_domain:PF16652,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	33882339	33882339	G	T	1	0	0	0	0	1	0	0	0	7832	1348	47	2		2	ITSN1	21	33882339	Missense_Mutation	SNP	G	C3L-00009_TP	3069261	33882339	12827644	307	2195	48	2									
ITSN1	0	.	GRCh38	chr21	33882340	33882340	+	Missense_Mutation	SNP	G	G	T																															gagcaacaaggagctgtatgGcttccttttcaacgacttcc																								novel		C3L-00009_TP	C3L-00009_NB	G	G																c.4439G>T	p.Gly1480Val	p.G1480V	ENST00000381318	35/40	332	295	37	466	466	0	strelka-varscan-mutect	ITSN1,missense_variant,p.Gly1480Val,ENST00000381318,NM_003024.2;ITSN1,missense_variant,p.Gly1475Val,ENST00000399367,;ITSN1,missense_variant,p.Gly160Val,ENST00000381284,;ITSN1,3_prime_UTR_variant,,ENST00000381285,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,intron_variant,,ENST00000415023,;ITSN1,intron_variant,,ENST00000420666,;	T	ENST00000381318	Transcript	missense_variant	4727/17015	4439/5166	1480/1721	G/V	gGc/gTc		1		1	ITSN1	HGNC	HGNC:6183	protein_coding	YES	CCDS33545.1	ENSP00000370719	Q15811		UPI00001403C6	NM_003024.2	deleterious(0.01)		35/40		PROSITE_profiles:PS50003,Gene3D:2.30.29.30,Pfam_domain:PF16652,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	33882340	33882340	G	T	1	0	0	0	0	1	0	0	0	7832	1203	42	2		2	ITSN1	21	33882340	Missense_Mutation	SNP	G	C3L-00009_TP	1	33882340	12827643	308	2196	48	2									
UBASH3A	0	.	GRCh38	chr21	42404034	42404034	+	Frame_Shift_Del	DEL	C	C	-																															gctcctggagcccctcctggCcatgggcttcccggtgcaca																								novel		C3L-00009_TP	C3L-00009_NB	C	C																c.90delC	p.Met31TrpfsTer9	p.M31Wfs*9	ENST00000319294	1/15	83	70	13	100	100	0	sindel-varindel-pindel	UBASH3A,frameshift_variant,p.Met31TrpfsTer9,ENST00000319294,NM_018961.3;UBASH3A,frameshift_variant,p.Met31TrpfsTer9,ENST00000291535,NM_001001895.2;UBASH3A,frameshift_variant,p.Met31TrpfsTer9,ENST00000398367,NM_001243467.1;UBASH3A,frameshift_variant,p.Met31TrpfsTer9,ENST00000635189,;UBASH3A,non_coding_transcript_exon_variant,,ENST00000634453,;UBASH3A,frameshift_variant,p.Met31TrpfsTer9,ENST00000473381,;UBASH3A,frameshift_variant,p.Met31TrpfsTer9,ENST00000635325,;UBASH3A,frameshift_variant,p.Met31TrpfsTer20,ENST00000634718,;UBASH3A,frameshift_variant,p.Met31TrpfsTer9,ENST00000635108,;	-	ENST00000319294	Transcript	frameshift_variant	120/2504	89/1986	30/661	A/X	gCc/gc		1		1	UBASH3A	HGNC	HGNC:12462	protein_coding	YES	CCDS13687.1	ENSP00000317327	P57075		UPI0000137941	NM_018961.3			1/15		PROSITE_profiles:PS50030,hmmpanther:PTHR16469:SF7,hmmpanther:PTHR16469,Gene3D:1.10.8.10,Superfamily_domains:SSF46934																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	6	42404034	42404034	C	-	1	0	1	0	1	0	0	0	0	17361	739	26	0		0	UBASH3A	21	42404034	Frame_Shift_Del	DEL	C	C3L-00009_TP	8521694	42404034	4305949	309	2197											
CCT8L2	0	.	GRCh38	chr22	16590923	16590923	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttccacaggaggtgggTgtttctttgtcttcttagag	5	18	12	6	0	3	1	0	0	3	1	4	2	4	2	1	3	0	2	1	3	1	6	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.1628A>G	p.His543Arg	p.H543R	ENST00000359963	1/1	172	159	13	263	263	0	varscan-mutect	CCT8L2,missense_variant,p.His543Arg,ENST00000359963,NM_014406.4;FABP5P11,downstream_gene_variant,,ENST00000430910,;	C	ENST00000359963	Transcript	missense_variant	1888/2060	1628/1674	543/557	H/R	cAc/cGc		1		-1	CCT8L2	HGNC	HGNC:15553	protein_coding	YES	CCDS13738.1	ENSP00000353048	Q96SF2		UPI000006CF87	NM_014406.4	tolerated_low_confidence(0.71)		1/1		hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF100																	MODERATE	1	SNV				1										PASS		rs1413206111	.												C	3	2	6	16590923	16590923	T	C	1	0	0	0	0	1	0	0	0	2662	1696	59	5		5	CCT8L2	22	16590923	Missense_Mutation	SNP	T	C3L-00009_TP		16590923	34227545	310	2198											
SLC7A4	0	.	GRCh38	chr22	21031801	21031801	+	Frame_Shift_Del	DEL	C	C	-																															aggctagcaatggtgggcagCccccgggccatggcaggtgg																								novel		C3L-00009_TP	C3L-00009_NB	C	C																c.12delG	p.Leu5CysfsTer14	p.L5Cfs*14	ENST00000382932	2/5	19	10	9	23	23	0	sindel-varindel-pindel	SLC7A4,frameshift_variant,p.Leu5CysfsTer14,ENST00000382932,NM_004173.2;SLC7A4,frameshift_variant,p.Leu5CysfsTer14,ENST00000403586,;SLC7A4,frameshift_variant,p.Leu5CysfsTer14,ENST00000426145,;P2RX6,downstream_gene_variant,,ENST00000413302,NM_005446.3;P2RX6,downstream_gene_variant,,ENST00000401443,NM_001159554.1;MIR649,downstream_gene_variant,,ENST00000384843,;AC002472.11,intron_variant,,ENST00000450652,;P2RX6P,downstream_gene_variant,,ENST00000439119,;P2RX6,downstream_gene_variant,,ENST00000442475,;P2RX6,downstream_gene_variant,,ENST00000432930,;P2RX6,downstream_gene_variant,,ENST00000422210,;	-	ENST00000382932	Transcript	frameshift_variant	80/2313	12/1908	4/635	G/X	ggG/gg		1		-1	SLC7A4	HGNC	HGNC:11062	protein_coding	YES	CCDS33608.1	ENSP00000372390	O43246		UPI0000169EC7	NM_004173.2			2/5		hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF410																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	6	21031801	21031801	C	-	1	0	1	0	1	0	0	0	0	14982	726	26	0		0	SLC7A4	22	21031801	Frame_Shift_Del	DEL	C	C3L-00009_TP	4440878	21031801	29786667	311	2199											
NFAM1	0	.	GRCh38	chr22	42411427	42411427	+	Missense_Mutation	SNP	C	C	A																															ctctgaccaggatgaaggtgCcgctgcctctcaccgtggag																								novel		C3L-00009_TP	C3L-00009_NB	C	C																c.431G>T	p.Gly144Val	p.G144V	ENST00000329021	2/6	131	107	24	234	233	1	strelka-varscan-mutect	NFAM1,missense_variant,p.Gly144Val,ENST00000329021,NM_145912.5;NFAM1,missense_variant,p.Gly144Val,ENST00000355469,;	A	ENST00000329021	Transcript	missense_variant	469/5602	431/813	144/270	G/V	gGc/gTc		1		-1	NFAM1	HGNC	HGNC:29872	protein_coding	YES	CCDS14034.1	ENSP00000333680	Q8NET5		UPI00000701BF	NM_145912.5	deleterious(0)		2/6		hmmpanther:PTHR35680,hmmpanther:PTHR35680:SF1																	MODERATE	1	SNV	1			1										PASS		rs1292760879	.												A	3	1	6	42411427	42411427	C	A	1	0	0	0	0	1	0	0	0	10395	739	26	2		2	NFAM1	22	42411427	Missense_Mutation	SNP	C	C3L-00009_TP	21379626	42411427	8407041	312	2200	49	2									
NFAM1	0	.	GRCh38	chr22	42411428	42411428	+	Missense_Mutation	SNP	C	C	A																															tctgaccaggatgaaggtgcCgctgcctctcaccgtggagt																								rs745605357		C3L-00009_TP	C3L-00009_NB	C	C																c.430G>T	p.Gly144Cys	p.G144C	ENST00000329021	2/6	140	114	26	239	239	0	strelka-varscan-mutect	NFAM1,missense_variant,p.Gly144Cys,ENST00000329021,NM_145912.5;NFAM1,missense_variant,p.Gly144Cys,ENST00000355469,;	A	ENST00000329021	Transcript	missense_variant	468/5602	430/813	144/270	G/C	Ggc/Tgc	rs745605357	1		-1	NFAM1	HGNC	HGNC:29872	protein_coding	YES	CCDS14034.1	ENSP00000333680	Q8NET5		UPI00000701BF	NM_145912.5	deleterious(0)		2/6		hmmpanther:PTHR35680,hmmpanther:PTHR35680:SF1																	MODERATE	1	SNV	1			1										PASS		rs745605357	.												A	3	1	6	42411428	42411428	C	A	1	0	0	0	0	1	0	0	0	10395	652	23	1		1	NFAM1	22	42411428	Missense_Mutation	SNP	C	C3L-00009_TP	1	42411428	8407040	313	2201	49	2									
PIM3	0	.	GRCh38	chr22	49961175	49961175	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtaccaggtgggcgccgtgCtgggtagcggcggcttcggc	3	7	19	12	6	0	0	0	0	0	0	1	0	0	0	2	6	3	4	2	6	2	3	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.136C>G	p.Leu46Val	p.L46V	ENST00000360612	2/6	168	133	35	209	209	0	strelka-varscan-mutect	PIM3,missense_variant,p.Leu46Val,ENST00000360612,NM_001001852.3;MIR6821,upstream_gene_variant,,ENST00000617625,;PIM3,non_coding_transcript_exon_variant,,ENST00000467480,;	G	ENST00000360612	Transcript	missense_variant	571/2369	136/981	46/326	L/V	Ctg/Gtg		1		1	PIM3	HGNC	HGNC:19310	protein_coding	YES	CCDS33678.1	ENSP00000353824	Q86V86		UPI00001582C4	NM_001001852.3	deleterious(0.01)		2/6		Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF037993,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR22984,hmmpanther:PTHR22984:SF8,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs956855982	.												G	3	3	6	49961175	49961175	C	G	1	0	0	0	0	1	0	0	0	12024	796	28	4		4	PIM3	22	49961175	Missense_Mutation	SNP	C	C3L-00009_TP	7549747	49961175	857293	314	2202											
MAGEB6	0	.	GRCh38	chrX	26194530	26194530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagtgtgtccgcagagaGtacaagccctacttccctca	10	9	9	13	1	1	2	1	1	0	1	3	3	3	2	3	0	3	2	3	0	4	3			C3L-00009_TP	C3L-00009_NB	G	G																c.684G>T	p.Glu228Asp	p.E228D	ENST00000379034	2/2	50	32	18	64	64	0	strelka-varscan-mutect	MAGEB6,missense_variant,p.Glu228Asp,ENST00000379034,NM_173523.2;	T	ENST00000379034	Transcript	missense_variant	833/1949	684/1224	228/407	E/D	gaG/gaT	COSM1119598	1		1	MAGEB6	HGNC	HGNC:23796	protein_coding	YES	CCDS14217.1	ENSP00000368320	Q8N7X4		UPI00001413F4	NM_173523.2	deleterious(0.01)		2/2		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF80,hmmpanther:PTHR11736,Pfam_domain:PF01454,SMART_domains:SM01373											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	6	26194530	26194530	G	T	1	0	0	0	0	1	0	0	0	9096	1020	36	2		2	MAGEB6	23	26194530	Missense_Mutation	SNP	G	C3L-00009_TP		26194530	129846365	315	2203											
GPR173	0	.	GRCh38	chrX	53077132	53077132	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctacaagtttattcgggagGaggaccagtgcatctttgag	10	11	12	8	1	1	1	0	1	1	0	2	4	1	4	2	3	2	2	2	3	3	5	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.511G>T	p.Glu171Ter	p.E171*	ENST00000332582	2/2	127	103	24	187	187	0	strelka-varscan-mutect	GPR173,stop_gained,p.Glu171Ter,ENST00000332582,NM_018969.5;GPR173,downstream_gene_variant,,ENST00000375466,;	T	ENST00000332582	Transcript	stop_gained	1002/4485	511/1122	171/373	E/*	Gag/Tag		1		1	GPR173	HGNC	HGNC:18186	protein_coding	YES	CCDS14349.1	ENSP00000331600	Q9NS66		UPI0000050480	NM_018969.5			2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF4,Superfamily_domains:SSF81321																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	6	53077132	53077132	G	T	1	0	0	0	0	0	1	0	0	6555	1175	41	2		2	GPR173	23	53077132	Nonsense_Mutation	SNP	G	C3L-00009_TP	26882602	53077132	102963763	316	2204											
PAGE5	0	.	GRCh38	chrX	55222728	55222728	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcccacttttgatcccActaaagtgctggaagcaggt	9	11	9	12	0	1	1	0	1	1	0	2	2	2	2	2	2	3	2	2	2	3	3	novel		C3L-00009_TP	C3L-00009_NB	A	A																c.358A>G	p.Thr120Ala	p.T120A	ENST00000289619	4/5	146	106	40	166	166	0	strelka-varscan-mutect	PAGE5,missense_variant,p.Thr120Ala,ENST00000289619,NM_130467.4;PAGE5,missense_variant,p.Thr100Ala,ENST00000374955,NM_001013435.2;PAGE5,missense_variant,p.Thr83Ala,ENST00000374952,;	G	ENST00000289619	Transcript	missense_variant	603/741	358/393	120/130	T/A	Act/Gct		1		1	PAGE5	HGNC	HGNC:29992	protein_coding	YES	CCDS14368.1	ENSP00000289619	Q96GU1		UPI0000071A52	NM_130467.4	tolerated(0.59)		4/5		Pfam_domain:PF05831,hmmpanther:PTHR14047,hmmpanther:PTHR14047:SF14,SMART_domains:SM01379																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	6	55222728	55222728	A	G	1	0	0	0	0	1	0	0	0	11472	159	6	5		5	PAGE5	23	55222728	Missense_Mutation	SNP	A	C3L-00009_TP	2145596	55222728	100818167	317	2205											
NHSL2	0	.	GRCh38	chrX	72134662	72134662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagaagcggtggcctcagCtttgctccacgcagtctgac	8	8	13	12	2	2	2	1	1	1	1	3	3	3	2	2	3	3	3	2	3	1	1	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.718C>T	p.Leu240Phe	p.L240F	ENST00000633930	4/8	91	70	21	71	71	0	strelka-varscan-mutect	NHSL2,missense_variant,p.Leu240Phe,ENST00000633930,NM_001013627.2;NHSL2,5_prime_UTR_variant,,ENST00000510661,;NHSL2,intron_variant,,ENST00000631375,;NHSL2,intron_variant,,ENST00000632230,;RGAG4,upstream_gene_variant,,ENST00000609883,NM_001024455.3;NHSL2,downstream_gene_variant,,ENST00000631833,;NHSL2,non_coding_transcript_exon_variant,,ENST00000373677,;RGAG4,upstream_gene_variant,,ENST00000479991,;	T	ENST00000633930	Transcript	missense_variant	988/13660	718/3678	240/1225	L/F	Ctt/Ttt		1		1	NHSL2	HGNC	HGNC:33737	protein_coding	YES		ENSP00000488668		A0A0J9YY34	UPI0001B09231	NM_001013627.2	deleterious(0.02)		4/8		hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	6	72134662	72134662	C	T	1	0	0	0	0	1	0	0	0	10445	797	28	3		3	NHSL2	23	72134662	Missense_Mutation	SNP	C	C3L-00009_TP	16911934	72134662	83906233	318	2206											
TENM1	0	.	GRCh38	chrX	124422576	124422576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcacaatgttgttatcCaagacatacaatgaattgtc	14	12	7	8	0	0	2	0	1	0	1	2	2	1	2	1	0	3	4	1	0	6	4			C3L-00009_TP	C3L-00009_NB	C	C																c.4167G>T	p.Leu1389Phe	p.L1389F	ENST00000422452	24/32	117	84	33	167	167	0	strelka-varscan-mutect	TENM1,missense_variant,p.Leu1389Phe,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,missense_variant,p.Leu1382Phe,ENST00000371130,NM_014253.3;STAG2,non_coding_transcript_exon_variant,,ENST00000469481,;	A	ENST00000422452	Transcript	missense_variant	4231/12891	4167/8199	1389/2732	L/F	ttG/ttT	COSM5411930,COSM5411931	1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1	deleterious(0)		24/32		hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219,Gene3D:2.120.10.30,Superfamily_domains:SSF101898											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	6	124422576	124422576	C	A	1	0	0	0	0	1	0	0	0	16171	593	21	2		2	TENM1	23	124422576	Missense_Mutation	SNP	C	C3L-00009_TP	52287914	124422576	31618319	319	2207											
TENM1	0	.	GRCh38	chrX	124651982	124651982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaacgccagataccaaGgtccttgatccatatactct	13	11	6	11	1	1	2	0	1	1	1	3	2	3	2	4	1	3	1	4	1	6	5	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.1511C>A	p.Pro504His	p.P504H	ENST00000422452	8/32	142	101	41	218	218	0	strelka-varscan-mutect	TENM1,missense_variant,p.Pro504His,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,missense_variant,p.Pro504His,ENST00000371130,NM_014253.3;	T	ENST00000422452	Transcript	missense_variant	1575/12891	1511/8199	504/2732	P/H	cCt/cAt		1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1	tolerated(0.34)		8/32		hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	124651982	124651982	G	T	1	0	0	0	0	1	0	0	0	16171	1000	35	2		2	TENM1	23	124651982	Missense_Mutation	SNP	G	C3L-00009_TP	229406	124651982	31388913	320	2208											
TEX13C	0	.	GRCh38	chrX	125321968	125321968	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaagaaagatccagtggtgCcccaggacacagctcccctg	11	6	11	13	0	0	3	0	1	0	2	2	4	2	4	5	2	2	1	5	2	2	0	novel		C3L-00009_TP	C3L-00009_NB	C	C																c.1849C>A	p.Pro617Thr	p.P617T	ENST00000632600	1/1	305	269	36	375	374	1	strelka-varscan-mutect	TEX13C,missense_variant,p.Pro617Thr,ENST00000632600,NM_001195272.1;RP13-147D17.1,downstream_gene_variant,,ENST00000394467,;	A	ENST00000632600	Transcript	missense_variant	1849/5095	1849/2982	617/993	P/T	Ccc/Acc		1		1	TEX13C	HGNC	HGNC:52277	protein_coding	YES		ENSP00000488022	A0A0J9YWL9		UPI000016014C	NM_001195272.1	tolerated(0.06)		1/1																			MODERATE	1	SNV				1										PASS		.	.												A	3	1	6	125321968	125321968	C	A	1	0	0	0	0	1	0	0	0	16199	739	26	2		2	TEX13C	23	125321968	Missense_Mutation	SNP	C	C3L-00009_TP	669986	125321968	30718927	321	2209											
SMARCA1	0	.	GRCh38	chrX	129481130	129481130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaaagtaggcatccactGcgtagtttgctttgcgttct	7	15	9	10	2	2	0	0	0	2	0	3	0	3	0	1	1	3	6	1	1	4	6	novel		C3L-00009_TP	C3L-00009_NB	G	G																c.2273C>A	p.Ala758Glu	p.A758E	ENST00000371121	18/25	163	122	41	149	149	0	strelka-varscan-mutect	SMARCA1,missense_variant,p.Ala758Glu,ENST00000371122,NM_003069.4;SMARCA1,missense_variant,p.Ala746Glu,ENST00000371123,NM_001282875.1;SMARCA1,missense_variant,p.Ala758Glu,ENST00000371121,NM_001282874.1;SMARCA1,non_coding_transcript_exon_variant,,ENST00000617310,;	T	ENST00000371121	Transcript	missense_variant	2308/3564	2273/3213	758/1070	A/E	gCa/gAa		1		-1	SMARCA1	HGNC	HGNC:11097	protein_coding	YES	CCDS76019.1	ENSP00000360162		B7ZLQ5	UPI00004258DE	NM_001282874.1	deleterious(0)		18/25		Pfam_domain:PF09110																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	6	129481130	129481130	G	T	1	0	0	0	0	1	0	0	0	15061	1319	46	2		2	SMARCA1	23	129481130	Missense_Mutation	SNP	G	C3L-00009_TP	4159162	129481130	26559765	322	2210											
GPC3	0	.	GRCh38	chrX	133536284	133536284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcatccacatccagatcaTaggccagttctgtcaatcaa	13	10	5	13	0	5	1	4	0	1	1	7	1	7	1	3	1	0	1	3	1	3	2	novel		C3L-00009_TP	C3L-00009_NB	T	T																c.1652A>G	p.Tyr551Cys	p.Y551C	ENST00000394299	9/9	197	135	62	243	243	0	strelka-varscan-mutect	GPC3,missense_variant,p.Tyr528Cys,ENST00000370818,NM_004484.3,NM_001164618.1;GPC3,missense_variant,p.Tyr551Cys,ENST00000394299,NM_001164617.1;GPC3,missense_variant,p.Tyr474Cys,ENST00000631057,NM_001164619.1;RNU6-203P,upstream_gene_variant,,ENST00000384038,;	C	ENST00000394299	Transcript	missense_variant	1849/2379	1652/1812	551/603	Y/C	tAt/tGt		1		-1	GPC3	HGNC	HGNC:4451	protein_coding	YES	CCDS55496.1	ENSP00000377836	P51654		UPI00015E044A	NM_001164617.1	tolerated(0.06)		9/9		Pfam_domain:PF01153,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	6	133536284	133536284	T	C	1	0	0	0	0	1	0	0	0	6501	1406	49	5		5	GPC3	23	133536284	Missense_Mutation	SNP	T	C3L-00009_TP	4055154	133536284	22504611	323	2211											
SKI	0	.	GRCh38	chr1	2306196	2306196	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcaggcgcggcaggcccgGgtgtgcgacaagggctgcga	7	3	20	11	5	0	0	0	0	0	0	0	3	0	0	1	5	3	3	1	5	1	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1944G>T	p.=	p.R648R	ENST00000378536	6/7	219	135	84	177	176	1	strelka-varscan-mutect	SKI,synonymous_variant,p.=,ENST00000378536,NM_003036.3;SKI,downstream_gene_variant,,ENST00000478223,;SKI,downstream_gene_variant,,ENST00000508416,;SKI,downstream_gene_variant,,ENST00000507179,;	T	ENST00000378536	Transcript	synonymous_variant	2016/5613	1944/2187	648/728	R	cgG/cgT		1		1	SKI	HGNC	HGNC:10896	protein_coding	YES	CCDS39.1	ENSP00000367797	P12755		UPI00001359DE	NM_003036.3			6/7		hmmpanther:PTHR10005:SF15,hmmpanther:PTHR10005																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	2306196	2306196	G	T	1	0	0	0	0	0	0	0	1	14619	1219	43	2		2	SKI	1	2306196	Silent	SNP	G	C3L-00080_TP		2306196	246650226	1	2212											
CEP104	0	.	GRCh38	chr1	3829949	3829949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccaaaataattcgaaccgCcgtctcgcggacctcataca	12	8	7	14	5	2	0	1	0	1	0	5	2	3	1	4	1	2	0	4	1	5	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1885G>T	p.Ala629Ser	p.A629S	ENST00000378230	14/22	303	251	52	278	278	0	strelka-varscan-mutect	CEP104,missense_variant,p.Ala629Ser,ENST00000378230,NM_014704.3;CEP104,upstream_gene_variant,,ENST00000461667,;CEP104,upstream_gene_variant,,ENST00000438539,;CEP104,downstream_gene_variant,,ENST00000460038,;CEP104,non_coding_transcript_exon_variant,,ENST00000495701,;CEP104,downstream_gene_variant,,ENST00000494653,;	A	ENST00000378230	Transcript	missense_variant	2210/6424	1885/2778	629/925	A/S	Gcg/Tcg		1		-1	CEP104	HGNC	HGNC:24866	protein_coding	YES	CCDS30571.1	ENSP00000367476	O60308		UPI0000139AA8	NM_014704.3	tolerated(0.05)		14/22		hmmpanther:PTHR13371:SF0,hmmpanther:PTHR13371,Gene3D:1.25.10.10,SMART_domains:SM01349,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	7	3829949	3829949	C	A	1	0	0	0	0	1	0	0	0	2954	739	26	2		2	CEP104	1	3829949	Missense_Mutation	SNP	C	C3L-00080_TP	1523753	3829949	245126473	2	2213											
PRAMEF6	0	.	GRCh38	chr1	12941314	12941314	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagcttcttacagcacAggtgtagtaaatctttcctc	9	16	6	10	0	3	0	1	0	2	0	5	0	4	0	1	1	3	4	1	1	4	7	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.539T>A	p.Leu180Gln	p.L180Q	ENST00000376189	3/4	137	110	27	143	143	0	strelka-varscan-mutect	PRAMEF6,missense_variant,p.Leu180Gln,ENST00000376189,NM_001010889.2;PRAMEF6,missense_variant,p.Leu180Gln,ENST00000415464,;	T	ENST00000376189	Transcript	missense_variant	625/1720	539/1431	180/476	L/Q	cTg/cAg		1		-1	PRAMEF6	HGNC	HGNC:30583	protein_coding	YES	CCDS30594.1	ENSP00000365360	Q5VXH4		UPI0000418E57	NM_001010889.2	deleterious(0)		3/4		PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF19,Low_complexity_(Seg):seg,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	12941314	12941314	A	T	1	0	0	0	0	1	0	0	0	12568	188	7	4		4	PRAMEF6	1	12941314	Missense_Mutation	SNP	A	C3L-00080_TP	9111365	12941314	236015108	3	2214											
PRAMEF8	0	.	GRCh38	chr1	13283862	13283862	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagcacagattttaatGactccagatgaggcgacttc	11	11	8	11	1	0	4	0	2	0	2	3	5	2	4	2	1	1	1	2	1	1	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.230C>A	p.Ser77Ter	p.S77*	ENST00000357367	2/4	174	148	26	161	161	0	strelka-varscan-mutect	PRAMEF8,stop_gained,p.Ser77Ter,ENST00000357367,NM_001012276.3;PRAMEF8,stop_gained,p.Ser77Ter,ENST00000621519,;PRAMEF8,stop_gained,p.Ser77Ter,ENST00000614831,;RNU6-443P,upstream_gene_variant,,ENST00000384780,;	T	ENST00000357367	Transcript	stop_gained	313/1844	230/1425	77/474	S/*	tCa/tAa		1		-1	PRAMEF8	HGNC	HGNC:24074	protein_coding	YES	CCDS72709.1	ENSP00000349931	Q5VWM4		UPI000191706C	NM_001012276.3			2/4		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30,PIRSF_domain:PIRSF038286																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	7	13283862	13283862	G	T	1	0	0	0	0	0	1	0	0	12570	1294	45	2		2	PRAMEF8	1	13283862	Nonsense_Mutation	SNP	G	C3L-00080_TP	342548	13283862	235672560	4	2215											
PRAMEF14	0	.	GRCh38	chr1	13344440	13344440	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctggggtatttccttgAggcagatgtctatgaacacc	9	12	10	10	0	1	3	0	2	1	1	3	3	3	3	3	3	1	2	3	3	3	4	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.464T>G	p.Leu155Arg	p.L155R	ENST00000334600	3/4	400	328	72	373	373	0	strelka-varscan-mutect	PRAMEF14,missense_variant,p.Leu155Arg,ENST00000334600,NM_001024661.2;PRAMEF14,upstream_gene_variant,,ENST00000602491,;	C	ENST00000334600	Transcript	missense_variant	567/1690	464/1425	155/474	L/R	cTc/cGc		1		-1	PRAMEF14	HGNC	HGNC:13576	protein_coding	YES	CCDS76109.1	ENSP00000334410		A6NFR9	UPI000013DEF2	NM_001024661.2	deleterious(0)		3/4		hmmpanther:PTHR14224:SF2,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	7	13344440	13344440	A	C	1	0	0	0	0	1	0	0	0	12558	304	11	5		5	PRAMEF14	1	13344440	Missense_Mutation	SNP	A	C3L-00080_TP	60578	13344440	235611982	5	2216											
CLCNKA	0	.	GRCh38	chr1	16033218	16033218	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtccctcttcgtgacaTcgcggggcagagctgtgggc	5	10	14	12	3	2	2	1	1	1	1	5	2	3	2	1	3	1	2	1	3	0	2	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.1978T>A	p.Ser660Thr	p.S660T	ENST00000331433	19/20	201	134	67	154	154	0	strelka-varscan-mutect	CLCNKA,missense_variant,p.Ser659Thr,ENST00000375692,NM_001042704.1;CLCNKA,missense_variant,p.Ser660Thr,ENST00000331433,NM_004070.3;CLCNKA,missense_variant,p.Ser617Thr,ENST00000439316,NM_001257139.1;CLCNKA,non_coding_transcript_exon_variant,,ENST00000464764,;CLCNKA,downstream_gene_variant,,ENST00000491433,;RP11-5P18.10,downstream_gene_variant,,ENST00000447882,;	A	ENST00000331433	Transcript	missense_variant	1997/2475	1978/2064	660/687	S/T	Tcg/Acg		1		1	CLCNKA	HGNC	HGNC:2026	protein_coding	YES	CCDS167.1	ENSP00000332771	P51800		UPI0000127993	NM_004070.3	deleterious(0.02)		19/20		Gene3D:3.10.580.10,PROSITE_profiles:PS51371,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF95,Superfamily_domains:SSF54631																	MODERATE	1	SNV	1			1										PASS		rs753873720	.												A	3	1	7	16033218	16033218	T	A	1	0	0	0	0	1	0	0	0	3233	1435	50	4		4	CLCNKA	1	16033218	Missense_Mutation	SNP	T	C3L-00080_TP	2688778	16033218	232923204	6	2217											
PADI2	0	.	GRCh38	chr1	17069164	17069164	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgatgaaggtgcattcgagGcccaggggctccaggaggcc	8	6	16	11	2	0	1	0	1	0	0	3	4	1	2	3	6	1	2	3	6	1	1			C3L-00080_TP	C3L-00080_NB	G	G																c.1878C>A	p.=	p.G626G	ENST00000375486	16/16	570	495	75	431	430	1	strelka-varscan-mutect	PADI2,synonymous_variant,p.=,ENST00000375486,NM_007365.2;PADI2,non_coding_transcript_exon_variant,,ENST00000466151,;PADI2,non_coding_transcript_exon_variant,,ENST00000479534,;	T	ENST00000375486	Transcript	synonymous_variant	1942/4345	1878/1998	626/665	G	ggC/ggA	COSM1473015,COSM4813635	1		-1	PADI2	HGNC	HGNC:18341	protein_coding	YES	CCDS177.1	ENSP00000364635	Q9Y2J8	A0A024RA98	UPI00001314AF	NM_007365.2			16/16		Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF12,Superfamily_domains:SSF55909											1,1						LOW	1	SNV	1		1,1	1										PASS		rs762865566	.												T	2	4	7	17069164	17069164	G	T	1	0	0	0	0	0	0	0	1	11456	1190	42	2		2	PADI2	1	17069164	Silent	SNP	G	C3L-00080_TP	1035946	17069164	231887258	7	2218											
PADI6	0	.	GRCh38	chr1	17382002	17382002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagatgactctgaatgtcCaaggccccagctgtatctta	10	10	8	13	0	2	3	0	2	2	1	3	3	3	3	4	1	1	2	4	1	4	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.589C>G	p.Gln197Glu	p.Q197E	ENST00000619609	6/16	428	361	67	379	379	0	strelka-varscan-mutect	PADI6,missense_variant,p.Gln197Glu,ENST00000619609,NM_207421.4;	G	ENST00000619609	Transcript	missense_variant	639/2396	589/2085	197/694	Q/E	Caa/Gaa		1		1	PADI6	HGNC	HGNC:20449	protein_coding	YES	CCDS72715.1	ENSP00000483125	Q6TGC4		UPI0000253BE7	NM_207421.4	tolerated(0.33)		6/16		hmmpanther:PTHR10837:SF4,hmmpanther:PTHR10837,PIRSF_domain:PIRSF001247,Pfam_domain:PF08527,Superfamily_domains:0044952,PD936484																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	17382002	17382002	C	G	1	0	0	0	0	1	0	0	0	11459	595	21	4		4	PADI6	1	17382002	Missense_Mutation	SNP	C	C3L-00080_TP	312838	17382002	231574420	8	2219											
EMC1	0	.	GRCh38	chr1	19220793	19220793	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgttgggatctcggggcgGcggggatccagcaaagcctt	6	9	16	10	3	2	0	0	0	2	0	4	2	3	2	2	6	2	2	2	6	1	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2643C>G	p.=	p.R881R	ENST00000477853	21/23	140	121	19	125	125	0	strelka-varscan-mutect	EMC1,missense_variant,p.Pro114Ala,ENST00000486405,;EMC1,synonymous_variant,p.=,ENST00000477853,NM_001271428.1,NM_015047.2;EMC1,synonymous_variant,p.=,ENST00000375199,NM_001271427.1;EMC1,synonymous_variant,p.=,ENST00000375208,NM_001271429.1;RP1-43E13.2,intron_variant,,ENST00000437898,;EMC1,non_coding_transcript_exon_variant,,ENST00000480380,;EMC1,non_coding_transcript_exon_variant,,ENST00000461353,;EMC1,non_coding_transcript_exon_variant,,ENST00000494770,;EMC1,non_coding_transcript_exon_variant,,ENST00000496654,;EMC1,synonymous_variant,p.=,ENST00000486238,;EMC1,non_coding_transcript_exon_variant,,ENST00000462505,;	C	ENST00000477853	Transcript	synonymous_variant	2686/6664	2643/2982	881/993	R	cgC/cgG		1		-1	EMC1	HGNC	HGNC:28957	protein_coding	YES	CCDS190.1	ENSP00000420608	Q8N766		UPI0000070A23	NM_001271428.1,NM_015047.2			21/23		hmmpanther:PTHR21573:SF0,hmmpanther:PTHR21573,Pfam_domain:PF07774																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	7	19220793	19220793	G	C	1	0	0	0	0	0	0	0	1	4921	1190	42	4		4	EMC1	1	19220793	Silent	SNP	G	C3L-00080_TP	1838791	19220793	229735629	9	2220											
HSPG2	0	.	GRCh38	chr1	21846243	21846243	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatggtgcagccgcagccGtgagccgcgggtctgaatag	8	6	15	12	4	1	2	0	2	1	0	1	2	1	2	3	2	4	2	3	2	2	1	rs759622393		C3L-00080_TP	C3L-00080_NB	G	G																c.8329C>A	p.=	p.R2777R	ENST00000374695	64/97	417	259	158	346	346	0	strelka-varscan-mutect	HSPG2,synonymous_variant,p.=,ENST00000374695,NM_005529.6,NM_001291860.1;HSPG2,non_coding_transcript_exon_variant,,ENST00000453796,;	T	ENST00000374695	Transcript	synonymous_variant	8409/14327	8329/13176	2777/4391	R	Cgg/Agg	rs759622393	1		-1	HSPG2	HGNC	HGNC:5273	protein_coding	YES	CCDS30625.1	ENSP00000363827	P98160		UPI0000212778	NM_005529.6,NM_001291860.1			64/97		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs759622393	.												T	2	4	7	21846243	21846243	G	T	1	0	0	0	0	0	0	0	1	7326	1144	40	1		1	HSPG2	1	21846243	Silent	SNP	G	C3L-00080_TP	2625450	21846243	227110179	10	2221											
C1QB	0	.	GRCh38	chr1	22661195	22661195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcgtggccgggagcgtGcacagaaggtggtcaccttc	7	8	15	11	3	2	1	2	0	0	1	3	2	2	2	2	4	3	1	2	4	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.571G>A	p.Ala191Thr	p.A191T	ENST00000314933	3/3	155	86	69	159	159	0	strelka-varscan-mutect	C1QB,missense_variant,p.Ala189Thr,ENST00000509305,;C1QB,missense_variant,p.Ala191Thr,ENST00000314933,NM_000491.3;C1QB,missense_variant,p.Ala189Thr,ENST00000432749,;C1QB,downstream_gene_variant,,ENST00000510260,;	A	ENST00000314933	Transcript	missense_variant	703/1044	571/762	191/253	A/T	Gca/Aca		1		1	C1QB	HGNC	HGNC:1242	protein_coding	YES	CCDS228.1	ENSP00000313967	P02746	A0A024RAB9	UPI000013F024	NM_000491.3	tolerated(0.36)		3/3		Gene3D:2.60.120.40,Pfam_domain:PF00386,PROSITE_profiles:PS50871,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF558,SMART_domains:SM00110,Superfamily_domains:SSF49842																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	22661195	22661195	G	A	1	0	0	0	0	1	0	0	0	1933	1319	46	3		3	C1QB	1	22661195	Missense_Mutation	SNP	G	C3L-00080_TP	814952	22661195	226295227	11	2222											
ZNF436	0	.	GRCh38	chr1	23362951	23362951	+	Missense_Mutation	SNP	C	C	A																															agatctgactgaaggcctttCcacaatgagaacatatatga																								novel		C3L-00080_TP	C3L-00080_NB	C	C																c.431G>T	p.Gly144Val	p.G144V	ENST00000314011	4/4	238	201	37	225	225	0	strelka-varscan-mutect	ZNF436,missense_variant,p.Gly144Val,ENST00000314011,NM_001077195.1;ZNF436,missense_variant,p.Gly144Val,ENST00000374608,NM_030634.2;	A	ENST00000314011	Transcript	missense_variant	568/4071	431/1413	144/470	G/V	gGa/gTa		1		-1	ZNF436	HGNC	HGNC:20814	protein_coding	YES	CCDS233.1	ENSP00000313582	Q9C0F3	A0A024RAF3	UPI0000001669	NM_001077195.1	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF318,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13894,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	23362951	23362951	C	A	1	0	0	0	0	1	0	0	0	18480	855	30	2		2	ZNF436	1	23362951	Missense_Mutation	SNP	C	C3L-00080_TP	701756	23362951	225593471	12	2223	50	2									
ZNF436	0	.	GRCh38	chr1	23362952	23362952	+	Nonsense_Mutation	SNP	C	C	A																															gatctgactgaaggcctttcCacaatgagaacatatatgat																								novel		C3L-00080_TP	C3L-00080_NB	C	C																c.430G>T	p.Gly144Ter	p.G144*	ENST00000314011	4/4	242	203	39	228	225	3	strelka-varscan-mutect	ZNF436,stop_gained,p.Gly144Ter,ENST00000314011,NM_001077195.1;ZNF436,stop_gained,p.Gly144Ter,ENST00000374608,NM_030634.2;	A	ENST00000314011	Transcript	stop_gained	567/4071	430/1413	144/470	G/*	Gga/Tga		1		-1	ZNF436	HGNC	HGNC:20814	protein_coding	YES	CCDS233.1	ENSP00000313582	Q9C0F3	A0A024RAF3	UPI0000001669	NM_001077195.1			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF318,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13894,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		rs1191687605	.												A	4	1	7	23362952	23362952	C	A	1	0	0	0	0	0	1	0	0	18480	603	21	2		2	ZNF436	1	23362952	Nonsense_Mutation	SNP	C	C3L-00080_TP	1	23362952	225593470	13	2224	50	2									
ZNF362	0	.	GRCh38	chr1	33280330	33280330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagggccacggcctgcttGgcccccccaagtccgaacgc	6	5	11	19	3	0	0	0	0	0	0	2	1	2	0	7	3	2	1	7	3	2	1			C3L-00080_TP	C3L-00080_NB	G	G																c.556G>T	p.Gly186Cys	p.G186C	ENST00000539719	5/9	238	197	41	212	212	0	strelka-varscan-mutect	ZNF362,missense_variant,p.Gly186Cys,ENST00000539719,NM_152493.2;ZNF362,missense_variant,p.Gly186Cys,ENST00000373428,;ZNF362,missense_variant,p.Gly173Cys,ENST00000483388,;ZNF362,upstream_gene_variant,,ENST00000477934,;	T	ENST00000539719	Transcript	missense_variant	726/3106	556/1263	186/420	G/C	Ggc/Tgc	COSM681072	1		1	ZNF362	HGNC	HGNC:18079	protein_coding	YES	CCDS377.1	ENSP00000446335	Q5T0B9		UPI000013E046	NM_152493.2	tolerated(0.13)		5/9													1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	7	33280330	33280330	G	T	1	0	0	0	0	1	0	0	0	18440	1348	47	2		2	ZNF362	1	33280330	Missense_Mutation	SNP	G	C3L-00080_TP	9917378	33280330	215676092	14	2225											
PHC2	0	.	GRCh38	chr1	33371074	33371074	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgaagtgcttccttgTctattggataccaggcttgc	6	14	10	11	0	1	1	0	1	1	0	2	2	2	2	3	2	4	2	3	2	3	6	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.354A>G	p.=	p.R118R	ENST00000257118	3/14	212	119	93	179	179	0	strelka-varscan-mutect	PHC2,synonymous_variant,p.=,ENST00000257118,NM_198040.2;PHC2,synonymous_variant,p.=,ENST00000431992,;PHC2,non_coding_transcript_exon_variant,,ENST00000468406,;PHC2,downstream_gene_variant,,ENST00000484692,;	C	ENST00000257118	Transcript	synonymous_variant	408/3870	354/2577	118/858	R	agA/agG		1		-1	PHC2	HGNC	HGNC:3183	protein_coding	YES	CCDS378.1	ENSP00000257118	Q8IXK0		UPI0000074391	NM_198040.2			3/14		hmmpanther:PTHR12247:SF86,hmmpanther:PTHR12247																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	7	33371074	33371074	T	C	1	0	0	0	0	0	0	0	1	11906	1664	58	5		5	PHC2	1	33371074	Silent	SNP	T	C3L-00080_TP	90744	33371074	215585348	15	2226											
C1orf94	0	.	GRCh38	chr1	34197628	34197628	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagcaagcttctgtccCagttcccactgaagtccact	10	10	7	14	0	2	1	1	1	1	0	5	1	5	1	3	0	2	3	3	0	3	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.724C>T	p.Gln242Ter	p.Q242*	ENST00000488417	2/7	180	143	37	149	149	0	strelka-varscan-mutect	C1orf94,stop_gained,p.Gln242Ter,ENST00000488417,NM_001134734.1;C1orf94,stop_gained,p.Gln52Ter,ENST00000373374,NM_032884.4;	T	ENST00000488417	Transcript	stop_gained	844/2287	724/1797	242/598	Q/*	Cag/Tag		1		1	C1orf94	HGNC	HGNC:28250	protein_coding	YES	CCDS44108.1	ENSP00000435634	Q6P1W5		UPI0000D4BFB0	NM_001134734.1			2/7		hmmpanther:PTHR35674,hmmpanther:PTHR35674:SF1,Pfam_domain:PF15752																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	7	34197628	34197628	C	T	1	0	0	0	0	0	1	0	0	2000	595	21	3		3	C1orf94	1	34197628	Nonsense_Mutation	SNP	C	C3L-00080_TP	826554	34197628	214758794	16	2227											
SZT2	0	.	GRCh38	chr1	43441271	43441271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caactgatgacattgtcctgGatcggccagaagacactcgg	11	8	11	11	2	0	4	0	2	0	2	3	5	1	5	2	3	1	0	2	3	2	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.7231G>T	p.Asp2411Tyr	p.D2411Y	ENST00000562955	52/71	219	186	33	196	196	0	strelka-varscan-mutect	SZT2,missense_variant,p.Asp2411Tyr,ENST00000562955,NM_015284.3;SZT2,missense_variant,p.Asp2468Tyr,ENST00000634258,;SZT2,downstream_gene_variant,,ENST00000471177,;SZT2,upstream_gene_variant,,ENST00000460536,;SZT2,downstream_gene_variant,,ENST00000470897,;	T	ENST00000562955	Transcript	missense_variant	7231/12281	7231/10128	2411/3375	D/Y	Gat/Tat		1		1	SZT2	HGNC	HGNC:29040	protein_coding	YES	CCDS30694.2	ENSP00000457168	Q5T011		UPI0001E24F46	NM_015284.3	deleterious(0)		52/71		hmmpanther:PTHR14918																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	7	43441271	43441271	G	T	1	0	0	0	0	1	0	0	0	15883	1174	41	2		2	SZT2	1	43441271	Missense_Mutation	SNP	G	C3L-00080_TP	9243643	43441271	205515151	17	2228											
MUTYH	0	.	GRCh38	chr1	45332227	45332227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcacagtgggcgctgtgggGtacacactgtggcccctagc	6	8	15	12	1	0	0	0	0	0	0	0	0	0	0	2	4	3	3	2	4	2	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.863C>A	p.Thr288Asn	p.T288N	ENST00000372098	10/16	716	595	121	634	634	0	strelka-varscan-mutect	MUTYH,missense_variant,p.Thr291Asn,ENST00000450313,NM_001128425.1;MUTYH,missense_variant,p.Thr277Asn,ENST00000372115,NM_001048171.1;MUTYH,missense_variant,p.Thr288Asn,ENST00000372098,NM_012222.2;MUTYH,missense_variant,p.Thr263Asn,ENST00000372104,NM_001293195.1;MUTYH,missense_variant,p.Thr278Asn,ENST00000372110,NM_001293190.1;MUTYH,missense_variant,p.Thr263Asn,ENST00000355498,NM_001293196.1,NM_001293192.1,NM_001048173.1;MUTYH,missense_variant,p.Thr264Asn,ENST00000354383,NM_001048172.1;MUTYH,missense_variant,p.Thr274Asn,ENST00000448481,NM_001293191.1;MUTYH,missense_variant,p.Thr263Asn,ENST00000456914,NM_001048174.1;MUTYH,missense_variant,p.Thr277Asn,ENST00000528013,;MUTYH,missense_variant,p.Thr274Asn,ENST00000435155,;MUTYH,missense_variant,p.Thr135Asn,ENST00000412971,;MUTYH,missense_variant,p.Thr18Asn,ENST00000529892,;MUTYH,intron_variant,,ENST00000529984,;MUTYH,intron_variant,,ENST00000488731,;MUTYH,intron_variant,,ENST00000531105,;HPDL,downstream_gene_variant,,ENST00000334815,NM_032756.2;MUTYH,downstream_gene_variant,,ENST00000483127,;MUTYH,missense_variant,p.Thr61Asn,ENST00000467459,;MUTYH,3_prime_UTR_variant,,ENST00000481571,;MUTYH,3_prime_UTR_variant,,ENST00000475516,;MUTYH,3_prime_UTR_variant,,ENST00000533178,;MUTYH,3_prime_UTR_variant,,ENST00000467940,;MUTYH,3_prime_UTR_variant,,ENST00000461495,;MUTYH,3_prime_UTR_variant,,ENST00000470256,;MUTYH,non_coding_transcript_exon_variant,,ENST00000462388,;MUTYH,non_coding_transcript_exon_variant,,ENST00000478796,;MUTYH,non_coding_transcript_exon_variant,,ENST00000466231,;MUTYH,downstream_gene_variant,,ENST00000483642,;MUTYH,downstream_gene_variant,,ENST00000481139,;MUTYH,downstream_gene_variant,,ENST00000492494,;MUTYH,downstream_gene_variant,,ENST00000479746,;MUTYH,downstream_gene_variant,,ENST00000476789,;MUTYH,upstream_gene_variant,,ENST00000482094,;MUTYH,downstream_gene_variant,,ENST00000462387,;MUTYH,downstream_gene_variant,,ENST00000485484,;MUTYH,downstream_gene_variant,,ENST00000534453,;MUTYH,downstream_gene_variant,,ENST00000525160,;MUTYH,downstream_gene_variant,,ENST00000474703,;MUTYH,upstream_gene_variant,,ENST00000485271,;	T	ENST00000372098	Transcript	missense_variant	997/1839	863/1641	288/546	T/N	aCc/aAc		1		-1	MUTYH	HGNC	HGNC:7527	protein_coding	YES	CCDS520.1	ENSP00000361170	Q9UIF7	E5KP26	UPI000006EB4F	NM_012222.2	deleterious(0)		10/16		hmmpanther:PTHR10359,PROSITE_patterns:PS00764,Gene3D:1.10.1670.10,SMART_domains:SM00525,Superfamily_domains:SSF48150																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	45332227	45332227	G	T	1	0	0	0	0	1	0	0	0	9990	1261	44	2		2	MUTYH	1	45332227	Missense_Mutation	SNP	G	C3L-00080_TP	1890956	45332227	203624195	18	2229											
SGIP1	0	.	GRCh38	chr1	66739349	66739349	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggtgtctgcccagggCattcagtccacacctctgaa	9	8	11	13	0	3	1	1	1	2	0	4	1	4	1	3	3	1	2	3	3	2	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2046C>A	p.=	p.G682G	ENST00000371037	22/25	260	153	107	211	211	0	strelka-varscan-mutect	SGIP1,synonymous_variant,p.=,ENST00000371037,NM_032291.2;SGIP1,synonymous_variant,p.=,ENST00000371039,NM_001308203.1;SGIP1,synonymous_variant,p.=,ENST00000237247,;SGIP1,synonymous_variant,p.=,ENST00000435165,;	A	ENST00000371037	Transcript	synonymous_variant	2123/7768	2046/2487	682/828	G	ggC/ggA		1		1	SGIP1	HGNC	HGNC:25412	protein_coding	YES	CCDS30744.1	ENSP00000360076	Q9BQI5		UPI000045891B	NM_032291.2			22/25		Superfamily_domains:0038852,Pfam_domain:PF10291,PROSITE_profiles:PS51072,hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF8																	LOW	1	SNV	1			1										PASS		rs1181717196	.												A	2	1	7	66739349	66739349	C	A	1	0	0	0	0	0	0	0	1	14466	697	25	2		2	SGIP1	1	66739349	Silent	SNP	C	C3L-00080_TP	21407122	66739349	182217073	19	2230											
IL12RB2	0	.	GRCh38	chr1	67395591	67395591	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcctgatagactggccCacgcctgaagatcctgaacc	10	7	10	14	1	0	5	0	3	0	2	2	5	2	5	5	2	1	1	5	2	3	1	rs140587981		C3L-00080_TP	C3L-00080_NB	C	C																c.2091C>A	p.=	p.P697P	ENST00000262345	16/16	323	209	114	273	273	0	strelka-varscan-mutect	IL12RB2,missense_variant,p.His634Asn,ENST00000541374,NM_001258216.1;IL12RB2,synonymous_variant,p.=,ENST00000262345,NM_001559.2;IL12RB2,synonymous_variant,p.=,ENST00000544434,NM_001258215.1;IL12RB2,3_prime_UTR_variant,,ENST00000371000,NM_001258214.1;IL12RB2,non_coding_transcript_exon_variant,,ENST00000465396,;	A	ENST00000262345	Transcript	synonymous_variant	2731/4040	2091/2589	697/862	P	ccC/ccA	rs140587981	1		1	IL12RB2	HGNC	HGNC:5972	protein_coding	YES	CCDS638.1	ENSP00000262345	Q99665		UPI0000046B13	NM_001559.2			16/16		hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF79																	LOW	1	SNV	1			1										PASS		rs140587981	.												A	2	1	7	67395591	67395591	C	A	1	0	0	0	0	0	0	0	1	7535	594	21	2		2	IL12RB2	1	67395591	Silent	SNP	C	C3L-00080_TP	656242	67395591	181560831	20	2231											
PKN2	0	.	GRCh38	chr1	88741224	88741224	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaataaaaaattagaagaActacatcacaagctgcagga	21	7	6	7	0	2	2	2	0	0	2	2	3	2	3	0	1	4	2	0	1	9	3	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.285A>G	p.=	p.E95E	ENST00000370521	2/22	37	30	7	53	53	0	strelka-varscan-mutect	PKN2,synonymous_variant,p.=,ENST00000370521,NM_006256.2;PKN2,synonymous_variant,p.=,ENST00000370513,;PKN2,synonymous_variant,p.=,ENST00000316005,;	G	ENST00000370521	Transcript	synonymous_variant	644/6121	285/2955	95/984	E	gaA/gaG		1		1	PKN2	HGNC	HGNC:9406	protein_coding	YES	CCDS714.1	ENSP00000359552	Q16513		UPI000004D291	NM_006256.2			2/22		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Gene3D:1.10.287.160,Pfam_domain:PF02185,SMART_domains:SM00742,Superfamily_domains:SSF46585																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	7	88741224	88741224	A	G	1	0	0	0	0	0	0	0	1	12076	40	2	5		5	PKN2	1	88741224	Silent	SNP	A	C3L-00080_TP	21345633	88741224	160215198	21	2232											
LRRC8C	0	.	GRCh38	chr1	89713281	89713281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataaaaaggaaggtgagcaGgctaaggccttatttgagaa	16	8	13	4	0	0	2	0	2	0	1	0	5	0	3	1	4	1	2	1	4	7	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.711G>T	p.Gln237His	p.Q237H	ENST00000370454	3/3	207	170	37	203	203	0	strelka-varscan-mutect	LRRC8C,missense_variant,p.Gln237His,ENST00000370454,NM_032270.4;LRRC8C,intron_variant,,ENST00000479252,;RP11-302M6.4,intron_variant,,ENST00000370453,;LRRC8C,downstream_gene_variant,,ENST00000482063,;	T	ENST00000370454	Transcript	missense_variant	966/7218	711/2412	237/803	Q/H	caG/caT		1		1	LRRC8C	HGNC	HGNC:25075	protein_coding	YES	CCDS725.1	ENSP00000359483	Q8TDW0		UPI000013E814	NM_032270.4	deleterious(0)		3/3		Pfam_domain:PF12534																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	89713281	89713281	G	T	1	0	0	0	0	1	0	0	0	8927	991	35	2		2	LRRC8C	1	89713281	Missense_Mutation	SNP	G	C3L-00080_TP	972057	89713281	159243141	22	2233											
BARHL2	0	.	GRCh38	chr1	90714598	90714598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcagccaggtccatgcGatcctgcacgctcaggtact	7	8	11	15	3	1	0	1	0	0	0	3	1	3	0	3	2	5	5	3	2	1	1			C3L-00080_TP	C3L-00080_NB	G	G																c.784C>A	p.Arg262Ser	p.R262S	ENST00000370445	2/3	416	286	130	339	339	0	strelka-varscan-mutect	BARHL2,missense_variant,p.Arg262Ser,ENST00000370445,NM_020063.1;	T	ENST00000370445	Transcript	missense_variant	826/1979	784/1164	262/387	R/S	Cgc/Agc	COSM226451	1		-1	BARHL2	HGNC	HGNC:954	protein_coding	YES	CCDS730.1	ENSP00000359474	Q9NY43		UPI00001B50ED	NM_020063.1	deleterious(0)		2/3		PROSITE_profiles:PS50071,hmmpanther:PTHR24330:SF4,hmmpanther:PTHR24330,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024											1						MODERATE	1	SNV	1		1	1										PASS		rs1178542684	.												T	3	4	7	90714598	90714598	G	T	1	0	0	0	0	1	0	0	0	1466	1058	37	1		1	BARHL2	1	90714598	Missense_Mutation	SNP	G	C3L-00080_TP	1001317	90714598	158241824	23	2234											
EPHX4	0	.	GRCh38	chr1	92042879	92042879	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatatcgagttgtagcacTggatttgagaggttatggag	11	13	14	3	1	0	2	0	2	0	1	1	6	0	4	0	3	1	4	0	3	4	5	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.374T>C	p.Leu125Pro	p.L125P	ENST00000370383	3/7	127	106	21	167	167	0	strelka-varscan-mutect	EPHX4,missense_variant,p.Leu125Pro,ENST00000370383,NM_173567.4;EPHX4,non_coding_transcript_exon_variant,,ENST00000480758,;	C	ENST00000370383	Transcript	missense_variant	472/1437	374/1089	125/362	L/P	cTg/cCg		1		1	EPHX4	HGNC	HGNC:23758	protein_coding	YES	CCDS736.1	ENSP00000359410	Q8IUS5		UPI000013E9F5	NM_173567.4	tolerated(0.08)		3/7		Gene3D:3.40.50.1820,Pfam_domain:PF00561,Prints_domain:PR00111,hmmpanther:PTHR10992,hmmpanther:PTHR10992:SF278,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	92042879	92042879	T	C	1	0	0	0	0	1	0	0	0	5029	1580	55	5		5	EPHX4	1	92042879	Missense_Mutation	SNP	T	C3L-00080_TP	1328281	92042879	156913543	24	2235											
PLPPR4	0	.	GRCh38	chr1	99306891	99306891	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgtccatttcttcttcccgcGactccaccctgcggagaaag	7	11	8	15	3	2	1	0	0	2	1	5	3	5	1	4	1	1	0	4	1	1	3	rs777387972		C3L-00080_TP	C3L-00080_NB	G	G																c.2173G>C	p.Asp725His	p.D725H	ENST00000370185	7/7	265	169	96	318	318	0	strelka-varscan-mutect	PLPPR4,missense_variant,p.Asp725His,ENST00000370185,NM_014839.4;PLPPR4,missense_variant,p.Asp667His,ENST00000457765,NM_001166252.1;PLPPR4,missense_variant,p.Asp567His,ENST00000370184,;	C	ENST00000370185	Transcript	missense_variant	2670/5369	2173/2292	725/763	D/H	Gac/Cac	rs777387972	1		1	PLPPR4	HGNC	HGNC:23496	protein_coding	YES	CCDS757.1	ENSP00000359204	Q7Z2D5		UPI0000161229	NM_014839.4	deleterious(0)		7/7																			MODERATE	1	SNV	1			1										PASS		rs777387972	.												C	3	2	7	99306891	99306891	G	C	1	0	0	0	0	1	0	0	0	12212	1058	37	4		4	PLPPR4	1	99306891	Missense_Mutation	SNP	G	C3L-00080_TP	7264012	99306891	149649531	25	2236											
VCAM1	0	.	GRCh38	chr1	100738199	100738199	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccttaataatacctgcCattggaatgataatttactt	12	16	4	9	0	0	1	0	1	0	0	2	2	2	2	4	1	3	0	4	1	6	8	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2136C>A	p.=	p.A712A	ENST00000294728	9/9	118	103	15	167	167	0	strelka-varscan-mutect	VCAM1,synonymous_variant,p.=,ENST00000294728,NM_001078.3;VCAM1,synonymous_variant,p.=,ENST00000347652,NM_080682.2;VCAM1,synonymous_variant,p.=,ENST00000370119,NM_001199834.1;VCAM1,synonymous_variant,p.=,ENST00000370115,;VCAM1,non_coding_transcript_exon_variant,,ENST00000603679,;	A	ENST00000294728	Transcript	synonymous_variant	2237/3083	2136/2220	712/739	A	gcC/gcA		1		1	VCAM1	HGNC	HGNC:12663	protein_coding	YES	CCDS773.1	ENSP00000294728	P19320		UPI0000000E06	NM_001078.3			9/9		Transmembrane_helices:TMhelix,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF729																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	100738199	100738199	C	A	1	0	0	0	0	0	0	0	1	17682	581	21	2		2	VCAM1	1	100738199	Silent	SNP	C	C3L-00080_TP	1431308	100738199	148218223	26	2237											
COL11A1	0	.	GRCh38	chr1	102978912	102978912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctcttgaacctcgaggaCcctgcagatgagaacaaaag	14	6	9	12	1	1	3	0	2	1	2	2	6	1	4	3	1	3	1	3	1	4	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2657G>T	p.Gly886Val	p.G886V	ENST00000370096	34/67	358	202	156	497	497	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Gly898Val,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Gly886Val,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Gly847Val,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Gly770Val,ENST00000512756,NM_080630.3;COL11A1,splice_region_variant,p.=,ENST00000635193,;	A	ENST00000370096	Transcript	missense_variant,splice_region_variant	2970/7286	2657/5421	886/1806	G/V	gGt/gTt		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0)		34/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	102978912	102978912	C	A	1	0	0	0	0	1	0	0	0	3455	521	18	2		2	COL11A1	1	102978912	Missense_Mutation	SNP	C	C3L-00080_TP	2240713	102978912	145977510	27	2238											
COL11A1	0	.	GRCh38	chr1	103006074	103006074	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgagctcctgacctttgcCccaggttctcctggcattcc	4	13	9	15	0	1	2	0	2	1	0	4	2	3	2	6	2	2	3	6	2	0	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1785G>T	p.=	p.G595G	ENST00000370096	17/67	226	171	55	293	293	0	strelka-varscan-mutect	COL11A1,synonymous_variant,p.=,ENST00000358392,NM_080629.2;COL11A1,synonymous_variant,p.=,ENST00000370096,NM_001854.3;COL11A1,synonymous_variant,p.=,ENST00000353414,NM_001190709.1;COL11A1,synonymous_variant,p.=,ENST00000512756,NM_080630.3;COL11A1,downstream_gene_variant,,ENST00000427239,;COL11A1,non_coding_transcript_exon_variant,,ENST00000461720,;COL11A1,upstream_gene_variant,,ENST00000475980,;COL11A1,synonymous_variant,p.=,ENST00000635193,;	A	ENST00000370096	Transcript	synonymous_variant	2098/7286	1785/5421	595/1806	G	ggG/ggT		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3			17/67		Pfam_domain:PF01391,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	103006074	103006074	C	A	1	0	0	0	0	0	0	0	1	3455	610	22	2		2	COL11A1	1	103006074	Silent	SNP	C	C3L-00080_TP	27162	103006074	145950348	28	2239											
SPAG17	0	.	GRCh38	chr1	118008145	118008145	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataacagtggcatagcgtgAgctttctacccgcatacact	11	10	9	11	2	1	1	0	1	1	0	1	2	1	1	1	1	5	3	1	1	4	5	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.4486T>C	p.Ser1496Pro	p.S1496P	ENST00000336338	31/49	237	194	43	293	293	0	strelka-varscan-mutect	SPAG17,missense_variant,p.Ser1496Pro,ENST00000336338,NM_206996.2;SPAG17,upstream_gene_variant,,ENST00000437255,;	G	ENST00000336338	Transcript	missense_variant	4552/6924	4486/6672	1496/2223	S/P	Tca/Cca		1		-1	SPAG17	HGNC	HGNC:26620	protein_coding	YES	CCDS899.1	ENSP00000337804	Q6Q759		UPI00001601FD	NM_206996.2	tolerated(1)		31/49		hmmpanther:PTHR21963																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	118008145	118008145	A	G	1	0	0	0	0	1	0	0	0	15310	304	11	5		5	SPAG17	1	118008145	Missense_Mutation	SNP	A	C3L-00080_TP	15002071	118008145	130948277	29	2240											
NOTCH2	0	.	GRCh38	chr1	119919427	119919427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcttggcagcatcagccCgtgagtagcgggctgcaagg	8	6	16	11	3	1	1	1	1	0	0	1	2	1	1	1	3	4	6	1	3	2	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.5666G>T	p.Arg1889Leu	p.R1889L	ENST00000256646	31/34	192	108	84	215	215	0	strelka-varscan-mutect	NOTCH2,missense_variant,p.Arg1889Leu,ENST00000256646,NM_024408.3;NOTCH2,downstream_gene_variant,,ENST00000493703,;	A	ENST00000256646	Transcript	missense_variant	5886/11389	5666/7416	1889/2471	R/L	cGg/cTg		1		-1	NOTCH2	HGNC	HGNC:7882	protein_coding	YES	CCDS908.1	ENSP00000256646	Q04721		UPI000013CF1D	NM_024408.3	deleterious(0.01)		31/34		Gene3D:1.25.40.20,Pfam_domain:PF12796,PIRSF_domain:PIRSF002279,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF66,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	119919427	119919427	C	A	1	0	0	0	0	1	0	0	0	10593	652	23	1		1	NOTCH2	1	119919427	Missense_Mutation	SNP	C	C3L-00080_TP	1911282	119919427	129036995	30	2241											
NBPF14	0	.	GRCh38	chr1	148533927	148533927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttctttccttctttgatCttcttccccttctttttttc	1	26	1	13	0	6	1	0	1	6	0	9	1	8	1	3	0	0	0	3	0	0	11	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.8657G>C	p.Arg2886Thr	p.R2886T	ENST00000619423	70/71	249	179	70	184	184	0	strelka-varscan-mutect	NBPF14,missense_variant,p.Arg2886Thr,ENST00000619423,NM_015383.2;NBPF14,missense_variant,p.Arg2717Thr,ENST00000614999,;NBPF14,intron_variant,,ENST00000621066,;NBPF14,intron_variant,,ENST00000581201,;NBPF14,intron_variant,,ENST00000621070,;NBPF14,intron_variant,,ENST00000620240,;NBPF14,intron_variant,,ENST00000614329,;NBPF14,intron_variant,,ENST00000616120,;NBPF14,intron_variant,,ENST00000611826,;	G	ENST00000619423	Transcript	missense_variant	8849/10779	8657/8967	2886/2988	R/T	aGa/aCa		1		-1	NBPF14	HGNC	HGNC:25232	protein_coding	YES		ENSP00000479693		A0A087WVU4	UPI000387D10E	NM_015383.2	tolerated_low_confidence(0.24)		70/71		Low_complexity_(Seg):seg,PROSITE_profiles:PS51316																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	7	148533927	148533927	C	G	1	0	0	0	0	1	0	0	0	10207	913	32	4		4	NBPF14	1	148533927	Missense_Mutation	SNP	C	C3L-00080_TP	28614500	148533927	100422495	31	2242											
CIART	0	.	GRCh38	chr1	150286854	150286854	+	Missense_Mutation	SNP	C	C	T																															gagctataccctatcccctcCcagtctacccaccttggcca																								novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1058C>T	p.Pro353Leu	p.P353L	ENST00000290363	5/5	131	77	54	66	66	0	strelka-varscan-mutect	CIART,missense_variant,p.Pro353Leu,ENST00000290363,NM_144697.3;CIART,missense_variant,p.Pro353Leu,ENST00000369095,NM_001300838.1;CIART,missense_variant,p.Pro265Leu,ENST00000369094,NM_001300840.1,NM_001300839.1,NM_001300841.1;CIART,downstream_gene_variant,,ENST00000417398,;CIART,downstream_gene_variant,,ENST00000447007,;CIART,downstream_gene_variant,,ENST00000497211,;CIART,downstream_gene_variant,,ENST00000469255,;	T	ENST00000290363	Transcript	missense_variant	1507/1746	1058/1158	353/385	P/L	cCc/cTc		1		1	CIART	HGNC	HGNC:25200	protein_coding	YES	CCDS949.1	ENSP00000290363	Q8N365		UPI000000DBBF	NM_144697.3	tolerated_low_confidence(0.06)		5/5		Pfam_domain:PF15673,hmmpanther:PTHR35441																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	150286854	150286854	C	T	1	0	0	0	0	1	0	0	0	3181	623	22	3		3	CIART	1	150286854	Missense_Mutation	SNP	C	C3L-00080_TP	1752927	150286854	98669568	32	2243	51	2									
CIART	0	.	GRCh38	chr1	150286855	150286855	+	Silent	SNP	C	C	T																															agctataccctatcccctccCagtctacccaccttggccag																								novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1059C>T	p.=	p.P353P	ENST00000290363	5/5	127	76	51	66	66	0	strelka-varscan-mutect	CIART,synonymous_variant,p.=,ENST00000290363,NM_144697.3;CIART,synonymous_variant,p.=,ENST00000369095,NM_001300838.1;CIART,synonymous_variant,p.=,ENST00000369094,NM_001300840.1,NM_001300839.1,NM_001300841.1;CIART,downstream_gene_variant,,ENST00000417398,;CIART,downstream_gene_variant,,ENST00000447007,;CIART,downstream_gene_variant,,ENST00000497211,;CIART,downstream_gene_variant,,ENST00000469255,;	T	ENST00000290363	Transcript	synonymous_variant	1508/1746	1059/1158	353/385	P	ccC/ccT		1		1	CIART	HGNC	HGNC:25200	protein_coding	YES	CCDS949.1	ENSP00000290363	Q8N365		UPI000000DBBF	NM_144697.3			5/5		Pfam_domain:PF15673,hmmpanther:PTHR35441																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	150286855	150286855	C	T	1	0	0	0	0	0	0	0	1	3181	581	21	3		3	CIART	1	150286855	Silent	SNP	C	C3L-00080_TP	1	150286855	98669567	33	2244	51	2									
SEMA6C	0	.	GRCh38	chr1	151136896	151136896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccccaaagagagcagagCggccatgcaggttcacaggc	13	3	13	12	1	1	3	1	0	0	3	1	4	1	3	3	3	3	3	3	3	1	1	rs754066193		C3L-00080_TP	C3L-00080_NB	C	C																c.935G>A	p.Arg312His	p.R312H	ENST00000368913	11/20	402	352	50	196	196	0	strelka-varscan-mutect	SEMA6C,missense_variant,p.Arg312His,ENST00000341697,;SEMA6C,missense_variant,p.Arg312His,ENST00000368914,NM_030913.4;SEMA6C,missense_variant,p.Arg312His,ENST00000368913,NM_001178061.1;SEMA6C,missense_variant,p.Arg272His,ENST00000368912,NM_001178062.1;SEMA6C,missense_variant,p.Arg312His,ENST00000613223,;SEMA6C,missense_variant,p.Arg312His,ENST00000621728,;SEMA6C,upstream_gene_variant,,ENST00000479820,;SEMA6C,upstream_gene_variant,,ENST00000464018,;SEMA6C,upstream_gene_variant,,ENST00000489944,;SEMA6C,downstream_gene_variant,,ENST00000485745,;	T	ENST00000368913	Transcript	missense_variant	1064/3817	935/2889	312/962	R/H	cGc/cAc	rs754066193,COSM361407	1		-1	SEMA6C	HGNC	HGNC:10740	protein_coding	YES	CCDS53364.1	ENSP00000357909	Q9H3T2		UPI00001414D0	NM_001178061.1	tolerated(0.06)		11/20		PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF11,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs754066193	.												T	3	4	7	151136896	151136896	C	T	1	0	0	0	0	1	0	0	0	14317	768	27	1		1	SEMA6C	1	151136896	Missense_Mutation	SNP	C	C3L-00080_TP	850041	151136896	97819526	34	2245											
FLG	0	.	GRCh38	chr1	152303953	152303953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcagatgaagcttgtcCgtgcccaatgcctgagtgtc	8	10	12	11	1	0	3	0	2	0	1	2	4	1	3	3	0	4	2	3	0	2	1	rs750903733		C3L-00080_TP	C3L-00080_NB	C	C																c.10933G>A	p.Gly3645Arg	p.G3645R	ENST00000368799	3/3	899	802	97	460	460	0	varscan-mutect	FLG,missense_variant,p.Gly3645Arg,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368799	Transcript	missense_variant	10969/12747	10933/12186	3645/4061	G/R	Gga/Aga	rs750903733	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	tolerated(0.05)		3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571,Pfam_domain:PF03516																	MODERATE	1	SNV	1			1										PASS		rs750903733	.												T	3	4	7	152303953	152303953	C	T	1	0	0	0	0	1	0	0	0	5784	661	23	1		1	FLG	1	152303953	Missense_Mutation	SNP	C	C3L-00080_TP	1167057	152303953	96652469	35	2246											
PGLYRP3	0	.	GRCh38	chr1	153298103	153298103	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggatcaggtcctgggcCgcctccagcgctgcagcatt	6	8	12	15	2	1	0	1	0	0	0	3	1	3	1	4	3	3	3	4	3	0	1	rs750203950		C3L-00080_TP	C3L-00080_NB	C	C																c.879G>T	p.=	p.A293A	ENST00000290722	7/7	371	160	211	197	197	0	strelka-varscan-mutect	PGLYRP3,synonymous_variant,p.=,ENST00000290722,NM_052891.2;	A	ENST00000290722	Transcript	synonymous_variant	932/1173	879/1026	293/341	A	gcG/gcT	rs750203950	1		-1	PGLYRP3	HGNC	HGNC:30014	protein_coding	YES	CCDS1035.1	ENSP00000290722	Q96LB9		UPI000006F12B	NM_052891.2			7/7		hmmpanther:PTHR11022,hmmpanther:PTHR11022:SF12,Gene3D:3.40.80.10,Pfam_domain:PF01510,SMART_domains:SM00701,SMART_domains:SM00644,Superfamily_domains:SSF55846																	LOW	1	SNV	1			1										PASS		rs750203950	.												A	2	1	7	153298103	153298103	C	A	1	0	0	0	0	0	0	0	1	11884	639	23	1		1	PGLYRP3	1	153298103	Silent	SNP	C	C3L-00080_TP	994150	153298103	95658319	36	2247											
NPR1	0	.	GRCh38	chr1	153685080	153685080	+	Missense_Mutation	SNP	G	G	A																															aggcagccggctgaccctgaGcggggtaagaacgctggtgt																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1601G>A	p.Ser534Asn	p.S534N	ENST00000368680	8/22	362	334	28	164	164	0	strelka-varscan-mutect	NPR1,missense_variant,p.Ser534Asn,ENST00000368680,NM_000906.3;MIR8083,downstream_gene_variant,,ENST00000620823,;NPR1,downstream_gene_variant,,ENST00000413826,;NPR1,upstream_gene_variant,,ENST00000368677,;	A	ENST00000368680	Transcript	missense_variant	2073/4236	1601/3186	534/1061	S/N	aGc/aAc		1		1	NPR1	HGNC	HGNC:7943	protein_coding	YES	CCDS1051.1	ENSP00000357669	P16066	A0A140VJE6	UPI0000125B3D	NM_000906.3	tolerated(0.09)		8/22		PROSITE_profiles:PS50011,hmmpanther:PTHR11920:SF300,hmmpanther:PTHR11920																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	153685080	153685080	G	A	1	0	0	0	0	1	0	0	0	10650	985	34	3		3	NPR1	1	153685080	Missense_Mutation	SNP	G	C3L-00080_TP	386977	153685080	95271342	37	2248	52	2									
NPR1	0	.	GRCh38	chr1	153685081	153685081	+	Missense_Mutation	SNP	C	C	A																															ggcagccggctgaccctgagCggggtaagaacgctggtgtt																								rs554024271		C3L-00080_TP	C3L-00080_NB	C	C																c.1602C>A	p.Ser534Arg	p.S534R	ENST00000368680	8/22	355	326	29	158	158	0	strelka-varscan-mutect	NPR1,missense_variant,p.Ser534Arg,ENST00000368680,NM_000906.3;MIR8083,downstream_gene_variant,,ENST00000620823,;NPR1,downstream_gene_variant,,ENST00000413826,;NPR1,upstream_gene_variant,,ENST00000368677,;	A	ENST00000368680	Transcript	missense_variant	2074/4236	1602/3186	534/1061	S/R	agC/agA	rs554024271	1		1	NPR1	HGNC	HGNC:7943	protein_coding	YES	CCDS1051.1	ENSP00000357669	P16066	A0A140VJE6	UPI0000125B3D	NM_000906.3	deleterious(0.01)		8/22		PROSITE_profiles:PS50011,hmmpanther:PTHR11920:SF300,hmmpanther:PTHR11920																	MODERATE	1	SNV	1			1										PASS		rs554024271	.												A	3	1	7	153685081	153685081	C	A	1	0	0	0	0	1	0	0	0	10650	782	27	1		1	NPR1	1	153685081	Missense_Mutation	SNP	C	C3L-00080_TP	1	153685081	95271341	38	2249	52	2									
INSRR	0	.	GRCh38	chr1	156840971	156840971	+	Frame_Shift_Del	DEL	G	G	-																															cagggagccccgggccccccGgcattccgggctgtagtaga																								rs35627952		C3L-00080_TP	C3L-00080_NB	G	G																c.3796delC	p.Arg1266GlyfsTer112	p.R1266Gfs*112	ENST00000368195	22/22	670	455	215	558	556	2	sindel-varindel-pindel	INSRR,frameshift_variant,p.Arg1266GlyfsTer112,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;	-	ENST00000368195	Transcript	frameshift_variant	4193/5101	3796/3894	1266/1297	R/X	Cgg/gg	rs35627952	1		-1	INSRR	HGNC	HGNC:6093	protein_coding	YES	CCDS1160.1	ENSP00000357178	P14616		UPI000012D8BD	NM_014215.2			22/22		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF338,PIRSF_domain:PIRSF000620																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	7	156840971	156840971	G	-	1	0	1	0	1	0	0	0	0	7676	1115	39	0		0	INSRR	1	156840971	Frame_Shift_Del	DEL	G	C3L-00080_TP	3155890	156840971	92115451	39	2250											
LRRC71	0	.	GRCh38	chr1	156929400	156929400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agacaatgaaaacccctaagGgcctgggcaagaaaaaggag	18	3	12	8	0	0	3	0	1	0	2	0	4	0	4	3	3	1	1	3	3	7	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1117G>T	p.Gly373Cys	p.G373C	ENST00000337428	10/15	309	219	90	164	164	0	strelka-varscan-mutect	LRRC71,missense_variant,p.Gly373Cys,ENST00000337428,NM_144702.2;LRRC71,non_coding_transcript_exon_variant,,ENST00000490146,;LRRC71,intron_variant,,ENST00000476550,;LRRC71,upstream_gene_variant,,ENST00000472465,;	T	ENST00000337428	Transcript	missense_variant	1271/1959	1117/1680	373/559	G/C	Ggc/Tgc		1		1	LRRC71	HGNC	HGNC:26556	protein_coding	YES	CCDS44249.1	ENSP00000336661	Q8N4P6		UPI00000719B9	NM_144702.2	deleterious(0)		10/15		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	156929400	156929400	G	T	1	0	0	0	0	1	0	0	0	8918	1232	43	2		2	LRRC71	1	156929400	Missense_Mutation	SNP	G	C3L-00080_TP	88429	156929400	92027022	40	2251											
CD1A	0	.	GRCh38	chr1	158255169	158255169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaatctggtctcaggttgGctgagtgatttgcagactca	10	12	11	8	0	3	3	2	2	2	1	4	3	3	3	0	3	1	3	0	3	2	2			C3L-00080_TP	C3L-00080_NB	G	G																c.144G>T	p.Trp48Cys	p.W48C	ENST00000289429	2/6	365	260	105	294	293	1	strelka-varscan-mutect	CD1A,missense_variant,p.Trp48Cys,ENST00000289429,NM_001763.2;	T	ENST00000289429	Transcript	missense_variant	677/2096	144/984	48/327	W/C	tgG/tgT	COSM5645942	1		1	CD1A	HGNC	HGNC:1634	protein_coding	YES	CCDS1174.1	ENSP00000289429	P06126		UPI0000161A54	NM_001763.2	deleterious(0)		2/6		Gene3D:3.30.500.10,Pfam_domain:PF16497,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF160,Superfamily_domains:SSF54452											1						MODERATE	1	SNV	1		1	1										PASS		rs1336412613	.												T	3	4	7	158255169	158255169	G	T	1	0	0	0	0	1	0	0	0	2677	1212	42	2		2	CD1A	1	158255169	Missense_Mutation	SNP	G	C3L-00080_TP	1325769	158255169	90701253	41	2252											
CD1C	0	.	GRCh38	chr1	158292847	158292847	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgagacacagcagtctaGgaggccaggacatcatcctc	12	6	12	11	0	2	1	1	1	1	1	4	5	3	3	2	3	1	1	2	3	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.862G>T	p.Gly288Ter	p.G288*	ENST00000368170	4/6	204	148	56	143	143	0	strelka-varscan-mutect	CD1C,stop_gained,p.Gly288Ter,ENST00000368170,NM_001765.2;CD1C,stop_gained,p.Gly223Ter,ENST00000443761,;	T	ENST00000368170	Transcript	stop_gained	1141/1435	862/1002	288/333	G/*	Gga/Tga		1		1	CD1C	HGNC	HGNC:1636	protein_coding	YES	CCDS1175.1	ENSP00000357152	P29017		UPI000013DF78	NM_001765.2			4/6		hmmpanther:PTHR16675:SF155,hmmpanther:PTHR16675,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		rs1426916552	.												T	4	4	7	158292847	158292847	G	T	1	0	0	0	0	0	1	0	0	2679	1001	35	2		2	CD1C	1	158292847	Nonsense_Mutation	SNP	G	C3L-00080_TP	37678	158292847	90663575	42	2253											
OR10K2	0	.	GRCh38	chr1	158420545	158420545	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaggagtgagagcagcCaaggaagaggaaggaaaaca	20	1	15	5	0	0	3	0	1	0	3	0	8	0	7	1	4	3	1	1	4	6	0			C3L-00080_TP	C3L-00080_NB	C	C																c.322G>T	p.Gly108Cys	p.G108C	ENST00000314902	1/1	458	314	144	338	338	0	strelka-varscan-mutect	OR10K2,missense_variant,p.Gly108Cys,ENST00000314902,NM_001004476.1;	A	ENST00000314902	Transcript	missense_variant	322/939	322/939	108/312	G/C	Ggc/Tgc	COSM1986129	1		-1	OR10K2	HGNC	HGNC:14826	protein_coding	YES	CCDS30896.1	ENSP00000324251	Q6IF99	A0A126GV65	UPI0000041BC2	NM_001004476.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF400,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	7	158420545	158420545	C	A	1	0	0	0	0	1	0	0	0	10991	594	21	2		2	OR10K2	1	158420545	Missense_Mutation	SNP	C	C3L-00080_TP	127698	158420545	90535877	43	2254											
ATP1A2	0	.	GRCh38	chr1	160130265	160130266	+	Frame_Shift_Ins	INS	-	-	G																															caaaatgcctacatggagctINSggggggacttggggagcgtg																								novel		C3L-00080_TP	C3L-00080_NB	-	-																c.1631dupG	p.Leu545ThrfsTer28	p.L545Tfs*28	ENST00000361216	12/23	282	177	105	207	206	1	sindel-varindel-pindel	ATP1A2,frameshift_variant,p.Leu545ThrfsTer28,ENST00000361216,NM_000702.3;ATP1A2,frameshift_variant,p.Leu256ThrfsTer28,ENST00000447527,;ATP1A2,frameshift_variant,p.Leu545ThrfsTer28,ENST00000392233,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,;ATP1A2,downstream_gene_variant,,ENST00000468587,;	G	ENST00000361216	Transcript	frameshift_variant	1714-1715/5421	1625-1626/3063	542/1020	L/LX	ctg/ctGg		1		1	ATP1A2	HGNC	HGNC:800	protein_coding	YES	CCDS1196.1	ENSP00000354490	P50993	A0A0S2Z3W6	UPI0000124FC1	NM_000702.3			12/23		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF259,TIGRFAM_domain:TIGR01106,Gene3D:3.40.1110.10,Superfamily_domains:SSF81660																	HIGH	1	insertion	1	6		1										PASS		.	.												G	7	5	7	160130265	160130265	-	G	1	0	1	1	0	0	0	0	0	1281	1580	55	0		0	ATP1A2	1	160130265	Frame_Shift_Ins	INS	-	C3L-00080_TP	1709720	160130265	88826157	44	2255											
ATP1A2	0	.	GRCh38	chr1	160130277	160130277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catggagctggggggacttgGggagcgtgtgctgggtgaga	6	8	22	5	1	0	1	0	1	0	1	0	5	0	4	0	7	3	2	0	7	0	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1637G>A	p.Gly546Glu	p.G546E	ENST00000361216	12/23	295	195	100	219	219	0	strelka-varscan-mutect	ATP1A2,missense_variant,p.Gly546Glu,ENST00000361216,NM_000702.3;ATP1A2,missense_variant,p.Gly257Glu,ENST00000447527,;ATP1A2,missense_variant,p.Gly546Glu,ENST00000392233,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,;ATP1A2,downstream_gene_variant,,ENST00000468587,;	A	ENST00000361216	Transcript	missense_variant	1726/5421	1637/3063	546/1020	G/E	gGg/gAg		1		1	ATP1A2	HGNC	HGNC:800	protein_coding	YES	CCDS1196.1	ENSP00000354490	P50993	A0A0S2Z3W6	UPI0000124FC1	NM_000702.3	deleterious(0)		12/23		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF259,TIGRFAM_domain:TIGR01106,Gene3D:3.40.1110.10,Superfamily_domains:SSF81660																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	160130277	160130277	G	A	1	0	0	0	0	1	0	0	0	1281	1232	43	3		3	ATP1A2	1	160130277	Missense_Mutation	SNP	G	C3L-00080_TP	12	160130277	88826145	45	2256											
RGS5	0	.	GRCh38	chr1	163161937	163161937	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttctgcaggagtttgtcCagggaatcacgccactgcag	8	11	12	10	1	2	0	1	0	1	0	3	2	3	2	2	2	2	4	2	2	1	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.195G>T	p.=	p.L65L	ENST00000530507	3/5	417	202	215	284	281	3	strelka-varscan-mutect	RGS5,synonymous_variant,p.=,ENST00000313961,NM_003617.3;RGS5,synonymous_variant,p.=,ENST00000367903,;RGS5,synonymous_variant,p.=,ENST00000530507,NM_001254749.1;RGS5,synonymous_variant,p.=,ENST00000531476,;RGS5,5_prime_UTR_variant,,ENST00000618415,NM_001254748.1;RGS5,intron_variant,,ENST00000527988,NM_001195303.2;RP11-267N12.1,intron_variant,,ENST00000415437,;RGS5,non_coding_transcript_exon_variant,,ENST00000534288,;RGS5,non_coding_transcript_exon_variant,,ENST00000531954,;RGS5,non_coding_transcript_exon_variant,,ENST00000530241,;RGS5,downstream_gene_variant,,ENST00000428971,;RGS5,non_coding_transcript_exon_variant,,ENST00000525894,;	A	ENST00000530507	Transcript	synonymous_variant	263/851	195/558	65/185	L	ctG/ctT		1		-1	RGS5	HGNC	HGNC:10001	protein_coding	YES	CCDS58041.1	ENSP00000433001	O15539		UPI0001F78466	NM_001254749.1			3/5		Gene3D:1.10.196.10,Pfam_domain:PF00615,Prints_domain:PR01301,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF42,SMART_domains:SM00315,Superfamily_domains:SSF48097																	LOW		SNV	3			1										PASS		.	.												A	2	1	7	163161937	163161937	C	A	1	0	0	0	0	0	0	0	1	13479	581	21	2		2	RGS5	1	163161937	Silent	SNP	C	C3L-00080_TP	3031660	163161937	85794485	46	2257											
DCAF6	0	.	GRCh38	chr1	167993422	167993422	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacttaaaactccttctgcGgaagagagaagagaagaggt	16	7	12	6	1	1	4	0	0	1	4	2	8	2	5	1	2	3	0	1	2	6	2	rs781580588		C3L-00080_TP	C3L-00080_NB	G	G																c.885G>T	p.=	p.A295A	ENST00000367840	7/22	119	106	13	116	116	0	varscan-mutect	DCAF6,synonymous_variant,p.=,ENST00000432587,NM_001198957.1;DCAF6,synonymous_variant,p.=,ENST00000367840,NM_001198956.1;DCAF6,synonymous_variant,p.=,ENST00000367843,NM_018442.3;DCAF6,synonymous_variant,p.=,ENST00000312263,NM_001017977.2;DCAF6,downstream_gene_variant,,ENST00000470919,;DCAF6,downstream_gene_variant,,ENST00000455334,;DCAF6,downstream_gene_variant,,ENST00000491067,;DCAF6,synonymous_variant,p.=,ENST00000470721,;	T	ENST00000367840	Transcript	synonymous_variant	979/3349	885/2856	295/951	A	gcG/gcT	rs781580588	1		1	DCAF6	HGNC	HGNC:30002	protein_coding	YES	CCDS55657.1	ENSP00000356814	Q58WW2		UPI00000743AB	NM_001198956.1			7/22		hmmpanther:PTHR15574:SF39,hmmpanther:PTHR15574																	LOW	1	SNV	1			1										PASS		rs781580588	.												T	2	4	7	167993422	167993422	G	T	1	0	0	0	0	0	0	0	1	4075	1103	39	1		1	DCAF6	1	167993422	Silent	SNP	G	C3L-00080_TP	4831485	167993422	80963000	47	2258											
SELL	0	.	GRCh38	chr1	169704573	169704573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagttactcaccttgaCaggttggttctggagatgac	9	13	11	8	0	3	4	1	3	2	1	3	5	3	4	1	3	1	3	1	3	2	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.800G>A	p.Cys267Tyr	p.C267Y	ENST00000236147	5/9	78	55	23	69	69	0	strelka-varscan-mutect	SELL,missense_variant,p.Cys267Tyr,ENST00000236147,NM_000655.4;SELL,non_coding_transcript_exon_variant,,ENST00000463108,;SELL,non_coding_transcript_exon_variant,,ENST00000479657,;SELL,non_coding_transcript_exon_variant,,ENST00000460650,;C1orf112,intron_variant,,ENST00000498289,;SELL,downstream_gene_variant,,ENST00000466340,;SELL,upstream_gene_variant,,ENST00000497295,;	T	ENST00000236147	Transcript	missense_variant	961/2436	800/1158	267/385	C/Y	tGt/tAt		1		-1	SELL	HGNC	HGNC:10720	protein_coding	YES	CCDS53427.1	ENSP00000236147	P14151	A0A024R8Z0	UPI000007083D	NM_000655.4	deleterious(0)		5/9		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF352,hmmpanther:PTHR19325,Gene3D:2.10.70.10,PIRSF_domain:PIRSF002421,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535,Prints_domain:PR00343																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	169704573	169704573	C	T	1	0	0	0	0	1	0	0	0	14293	492	17	3		3	SELL	1	169704573	Missense_Mutation	SNP	C	C3L-00080_TP	1711151	169704573	79251849	48	2259											
FMO3	0	.	GRCh38	chr1	171117185	171117185	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggggcaaagcccaacatcCcatggctgtttctcacagat	10	10	9	12	0	1	1	1	0	1	1	3	1	2	1	2	3	2	3	2	3	2	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1342C>G	p.Pro448Ala	p.P448A	ENST00000367755	9/9	323	217	106	265	265	0	strelka-varscan-mutect	FMO3,missense_variant,p.Pro448Ala,ENST00000367755,NM_001002294.2,NM_006894.5;	G	ENST00000367755	Transcript	missense_variant	1453/2087	1342/1599	448/532	P/A	Cca/Gca		1		1	FMO3	HGNC	HGNC:3771	protein_coding	YES	CCDS1292.1	ENSP00000356729	P31513	A0A024R8Z4	UPI000016A103	NM_001002294.2,NM_006894.5	tolerated(0.2)		9/9		Gene3D:3.50.50.60,Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF44,Superfamily_domains:SSF51905																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	171117185	171117185	C	G	1	0	0	0	0	1	0	0	0	5812	623	22	4		4	FMO3	1	171117185	Missense_Mutation	SNP	C	C3L-00080_TP	1412612	171117185	77839237	49	2260											
ASTN1	0	.	GRCh38	chr1	177030847	177030847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctttctctggctgctggagGtgtgagagagaagggtggct	6	11	18	6	0	1	2	0	1	1	2	2	5	1	3	0	5	1	4	0	5	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.971C>A	p.Thr324Asn	p.T324N	ENST00000361833	4/23	319	218	101	264	264	0	strelka-varscan-mutect	ASTN1,missense_variant,p.Thr324Asn,ENST00000361833,NM_004319.2;ASTN1,missense_variant,p.Thr324Asn,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Thr324Asn,ENST00000424564,NM_207108.2;MIR488,upstream_gene_variant,,ENST00000365739,;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;ASTN1,non_coding_transcript_exon_variant,,ENST00000473640,;	T	ENST00000361833	Transcript	missense_variant	985/7116	971/3885	324/1294	T/N	aCc/aAc		1		-1	ASTN1	HGNC	HGNC:773	protein_coding	YES	CCDS1319.1	ENSP00000354536	O14525		UPI0000160388	NM_004319.2	deleterious_low_confidence(0.03)		4/23		hmmpanther:PTHR16592:SF8,hmmpanther:PTHR16592																	MODERATE	1	SNV	1			1										PASS		rs1384795767	.												T	3	4	7	177030847	177030847	G	T	1	0	0	0	0	1	0	0	0	1211	1261	44	2		2	ASTN1	1	177030847	Missense_Mutation	SNP	G	C3L-00080_TP	5913662	177030847	71925575	50	2261											
KIAA1614	0	.	GRCh38	chr1	180938667	180938667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcaaggaatcagagggaagCctgcagaggacagggtcagg	14	3	17	7	0	2	2	2	0	0	2	2	5	2	5	1	5	3	2	1	5	3	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2874C>A	p.Ser958Arg	p.S958R	ENST00000367588	6/9	211	153	58	202	201	1	strelka-varscan-mutect	KIAA1614,missense_variant,p.Ser958Arg,ENST00000367588,NM_020950.1;KIAA1614,missense_variant,p.Ser579Arg,ENST00000367587,;KIAA1614,non_coding_transcript_exon_variant,,ENST00000483705,;KIAA1614,upstream_gene_variant,,ENST00000461346,;	A	ENST00000367588	Transcript	missense_variant	2929/9654	2874/3573	958/1190	S/R	agC/agA		1		1	KIAA1614	HGNC	HGNC:29327	protein_coding	YES	CCDS41442.1	ENSP00000356560	Q5VZ46		UPI00001C1D75	NM_020950.1	tolerated(0.07)		6/9		Low_complexity_(Seg):seg,hmmpanther:PTHR17130,hmmpanther:PTHR17130:SF21																	MODERATE	1	SNV	1			1										PASS		rs1426453800	.												A	3	1	7	180938667	180938667	C	A	1	0	0	0	0	1	0	0	0	8124	738	26	2		2	KIAA1614	1	180938667	Missense_Mutation	SNP	C	C3L-00080_TP	3907820	180938667	68017755	51	2262											
CACNA1E	0	.	GRCh38	chr1	181580696	181580696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaatgatgggatcaccCagtttgataacatccttttt	10	13	7	11	0	1	2	1	2	0	0	2	3	2	3	4	1	1	1	4	1	2	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.871C>A	p.Gln291Lys	p.Q291K	ENST00000367573	6/48	377	296	81	318	317	1	strelka-varscan-mutect	CACNA1E,missense_variant,p.Gln291Lys,ENST00000621791,NM_001205294.1;CACNA1E,missense_variant,p.Gln291Lys,ENST00000621551,;CACNA1E,missense_variant,p.Gln291Lys,ENST00000367567,;CACNA1E,missense_variant,p.Gln291Lys,ENST00000358338,;CACNA1E,missense_variant,p.Gln291Lys,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Gln291Lys,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Gln291Lys,ENST00000357570,;CACNA1E,missense_variant,p.Gln291Lys,ENST00000360108,;CACNA1E,missense_variant,p.Gln291Lys,ENST00000524607,;CACNA1E,non_coding_transcript_exon_variant,,ENST00000533229,;	A	ENST00000367573	Transcript	missense_variant	871/7067	871/6942	291/2313	Q/K	Cag/Aag		1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1	tolerated(0.06)		6/48		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	181580696	181580696	C	A	1	0	0	0	0	1	0	0	0	2230	595	21	2		2	CACNA1E	1	181580696	Missense_Mutation	SNP	C	C3L-00080_TP	642029	181580696	67375726	52	2263											
CACNA1E	0	.	GRCh38	chr1	181798489	181798489	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgctgacctcccaagcTctggagagcaacaatgcttg	9	8	9	15	1	1	2	0	1	1	1	3	3	3	2	4	1	4	4	4	1	3	1	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.6597T>A	p.=	p.A2199A	ENST00000367573	48/48	343	218	125	246	246	0	strelka-varscan-mutect	CACNA1E,synonymous_variant,p.=,ENST00000621791,NM_001205294.1;CACNA1E,synonymous_variant,p.=,ENST00000621551,;CACNA1E,synonymous_variant,p.=,ENST00000367567,;CACNA1E,synonymous_variant,p.=,ENST00000358338,;CACNA1E,synonymous_variant,p.=,ENST00000367570,NM_000721.3;CACNA1E,synonymous_variant,p.=,ENST00000367573,NM_001205293.1;CACNA1E,synonymous_variant,p.=,ENST00000357570,;CACNA1E,synonymous_variant,p.=,ENST00000360108,;	A	ENST00000367573	Transcript	synonymous_variant	6597/7067	6597/6942	2199/2313	A	gcT/gcA		1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1			48/48																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	181798489	181798489	T	A	1	0	0	0	0	0	0	0	1	2230	1538	54	4		4	CACNA1E	1	181798489	Silent	SNP	T	C3L-00080_TP	217793	181798489	67157933	53	2264											
DHX9	0	.	GRCh38	chr1	182883202	182883202	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	taatttggatgttgttatctCcctcctggcctttggtgtgt	4	19	10	8	0	1	0	0	0	1	0	3	1	2	1	3	3	0	2	3	3	2	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2978C>G	p.Ser993Cys	p.S993C	ENST00000367549	25/28	300	252	48	306	306	0	strelka-varscan-mutect	DHX9,missense_variant,p.Ser993Cys,ENST00000367549,NM_001357.4;DHX9,non_coding_transcript_exon_variant,,ENST00000485081,;DHX9,non_coding_transcript_exon_variant,,ENST00000473076,;DHX9,downstream_gene_variant,,ENST00000474446,;	G	ENST00000367549	Transcript	missense_variant	3088/4240	2978/3813	993/1270	S/C	tCc/tGc		1		1	DHX9	HGNC	HGNC:2750	protein_coding	YES	CCDS41444.1	ENSP00000356520	Q08211		UPI00001AEF15	NM_001357.4	deleterious(0.01)		25/28		Pfam_domain:PF07717,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF119																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	182883202	182883202	C	G	1	0	0	0	0	1	0	0	0	4320	855	30	4		4	DHX9	1	182883202	Missense_Mutation	SNP	C	C3L-00080_TP	1084713	182883202	66073220	54	2265											
SHCBP1L	0	.	GRCh38	chr1	182904275	182904275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaatatgcagttttctaGagtcatgtgaccagactcca	11	15	7	8	0	2	3	1	1	1	2	3	3	3	3	2	0	1	2	2	0	3	6	rs751325803		C3L-00080_TP	C3L-00080_NB	G	G																c.1492C>A	p.Leu498Ile	p.L498I	ENST00000367547	8/10	391	301	90	361	360	1	strelka-varscan-mutect	SHCBP1L,missense_variant,p.Leu498Ile,ENST00000367547,NM_030933.2;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000488956,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000483655,;	T	ENST00000367547	Transcript	missense_variant	1729/2317	1492/1962	498/653	L/I	Cta/Ata	rs751325803	1		-1	SHCBP1L	HGNC	HGNC:16788	protein_coding	YES	CCDS30955.1	ENSP00000356518	Q9BZQ2		UPI000006F7B9	NM_030933.2	deleterious(0.02)		8/10		Gene3D:2.160.20.10,Pfam_domain:PF13229,hmmpanther:PTHR14695,hmmpanther:PTHR14695:SF7,SMART_domains:SM00710,SMART_domains:SM00722,Superfamily_domains:SSF51126																	MODERATE	1	SNV	1			1										PASS		rs751325803	.												T	3	4	7	182904275	182904275	G	T	1	0	0	0	0	1	0	0	0	14534	933	33	2		2	SHCBP1L	1	182904275	Missense_Mutation	SNP	G	C3L-00080_TP	21073	182904275	66052147	55	2266											
COLGALT2	0	.	GRCh38	chr1	183944281	183944281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgctcaaaacgcacatCgtcttcaattacaagagtct	13	11	6	11	2	4	2	2	1	2	1	5	2	4	2	0	0	3	2	0	0	5	2	rs777342761		C3L-00080_TP	C3L-00080_NB	C	C																c.1312G>T	p.Asp438Tyr	p.D438Y	ENST00000361927	10/12	66	46	20	101	101	0	strelka-varscan-mutect	COLGALT2,missense_variant,p.Asp438Tyr,ENST00000361927,NM_001303420.1,NM_015101.3,NM_001303421.1;COLGALT2,missense_variant,p.Asp46Tyr,ENST00000367521,;COLGALT2,missense_variant,p.Asp175Tyr,ENST00000367520,;COLGALT2,upstream_gene_variant,,ENST00000486375,;	A	ENST00000361927	Transcript	missense_variant	1684/5177	1312/1881	438/626	D/Y	Gat/Tat	rs777342761,COSM275306,COSM5477855	1		-1	COLGALT2	HGNC	HGNC:16790	protein_coding	YES	CCDS1360.1	ENSP00000354960	Q8IYK4		UPI000007423A	NM_001303420.1,NM_015101.3,NM_001303421.1	deleterious(0)		10/12		hmmpanther:PTHR10730,Pfam_domain:PF01755											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs777342761	.												A	3	1	7	183944281	183944281	C	A	1	0	0	0	0	1	0	0	0	3504	884	31	1		1	COLGALT2	1	183944281	Missense_Mutation	SNP	C	C3L-00080_TP	1040006	183944281	65012141	56	2267											
KCNT2	0	.	GRCh38	chr1	196285721	196285721	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcaaaaggcagtcgaAacataaaggccaagttagag	18	4	11	8	1	0	1	0	0	0	1	1	2	0	1	1	2	3	4	1	2	7	2	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.2633T>C	p.Phe878Ser	p.F878S	ENST00000294725	23/28	173	125	48	200	200	0	strelka-varscan-mutect	KCNT2,missense_variant,p.Phe854Ser,ENST00000367433,NM_001287819.1;KCNT2,missense_variant,p.Phe878Ser,ENST00000294725,NM_198503.3;KCNT2,missense_variant,p.Phe804Ser,ENST00000609185,NM_001287820.1;KCNT2,3_prime_UTR_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;	G	ENST00000294725	Transcript	missense_variant	3549/4409	2633/3408	878/1135	F/S	tTt/tCt		1		-1	KCNT2	HGNC	HGNC:18866	protein_coding	YES	CCDS1384.1	ENSP00000294725	Q6UVM3	A9LNM6	UPI00001E0966	NM_198503.3	deleterious(0)		23/28		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	196285721	196285721	A	G	1	0	0	0	0	1	0	0	0	8008	14	1	5		5	KCNT2	1	196285721	Missense_Mutation	SNP	A	C3L-00080_TP	12341440	196285721	52670701	57	2268											
ASPM	0	.	GRCh38	chr1	197146332	197146332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgagagacaggaccggcgGggaagacgcctcctcctcgg	8	4	16	13	4	0	3	0	1	0	2	3	6	2	5	4	5	0	1	4	5	1	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.106C>T	p.Pro36Ser	p.P36S	ENST00000367409	1/28	363	241	122	264	264	0	strelka-varscan-mutect	ASPM,missense_variant,p.Pro36Ser,ENST00000367409,NM_018136.4;ASPM,missense_variant,p.Pro36Ser,ENST00000294732,NM_001206846.1;ASPM,missense_variant,p.Pro36Ser,ENST00000612785,;	A	ENST00000367409	Transcript	missense_variant	363/10887	106/10434	36/3477	P/S	Ccg/Tcg		1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4	deleterious(0.02)		1/28																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	197146332	197146332	G	A	1	0	0	0	0	1	0	0	0	1203	1232	43	3		3	ASPM	1	197146332	Missense_Mutation	SNP	G	C3L-00080_TP	860611	197146332	51810090	58	2269											
LRRN2	0	.	GRCh38	chr1	204618569	204618569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcccctcggggtacaccCggtacctcctgcctgcatgg	4	8	13	16	2	0	0	0	0	0	0	3	0	2	0	6	5	4	3	6	5	2	2	rs558201537		C3L-00080_TP	C3L-00080_NB	C	C																c.1424G>A	p.Arg475Gln	p.R475Q	ENST00000367175	1/1	264	182	82	175	175	0	strelka-varscan-mutect	LRRN2,missense_variant,p.Arg475Gln,ENST00000367175,;LRRN2,missense_variant,p.Arg475Gln,ENST00000367177,NM_201630.1;LRRN2,missense_variant,p.Arg475Gln,ENST00000367176,NM_006338.2;RP11-430C7.4,downstream_gene_variant,,ENST00000453895,;LRRN2,downstream_gene_variant,,ENST00000496057,;	T	ENST00000367175	Transcript	missense_variant	3637/5036	1424/2142	475/713	R/Q	cGg/cAg	rs558201537	1		-1	LRRN2	HGNC	HGNC:16914	protein_coding	YES	CCDS1448.1	ENSP00000356143	O75325	A0A024R993	UPI000013E8AC		tolerated(0.24)		1/1		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF162,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV				1										PASS		rs558201537	.												T	3	4	7	204618569	204618569	C	T	1	0	0	0	0	1	0	0	0	8941	652	23	1		1	LRRN2	1	204618569	Missense_Mutation	SNP	C	C3L-00080_TP	7472237	204618569	44337853	59	2270											
CNTN2	0	.	GRCh38	chr1	205059117	205059117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggctcctcaacgagttccCcaacttcatcccgacggacg	8	8	8	17	4	2	0	2	0	0	0	5	3	5	1	4	2	2	2	4	2	2	2			C3L-00080_TP	C3L-00080_NB	C	C																c.521C>A	p.Pro174His	p.P174H	ENST00000331830	6/23	336	213	123	277	276	1	strelka-varscan-mutect	CNTN2,missense_variant,p.Pro174His,ENST00000331830,NM_005076.3;CNTN2,non_coding_transcript_exon_variant,,ENST00000481872,;CNTN2,non_coding_transcript_exon_variant,,ENST00000636809,;CNTN2,non_coding_transcript_exon_variant,,ENST00000530117,;CNTN2,downstream_gene_variant,,ENST00000532366,;CNTN2,upstream_gene_variant,,ENST00000527340,;	A	ENST00000331830	Transcript	missense_variant	878/8214	521/3123	174/1040	P/H	cCc/cAc	COSM3803598	1		1	CNTN2	HGNC	HGNC:2172	protein_coding	YES	CCDS1449.1	ENSP00000330633	Q02246	A0A024R9B4	UPI00001266A5	NM_005076.3	deleterious(0)		6/23		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		rs1455768620	.												A	3	1	7	205059117	205059117	C	A	1	0	0	0	0	1	0	0	0	3422	623	22	2		2	CNTN2	1	205059117	Missense_Mutation	SNP	C	C3L-00080_TP	440548	205059117	43897305	60	2271											
SRGAP2	0	.	GRCh38	chr1	206453206	206453206	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacccttctcagaatgtgAgcccatcgaggccattgcca	9	9	8	15	1	1	2	1	1	1	1	4	3	2	2	5	1	2	0	5	1	1	2	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.2186A>C	p.Glu729Ala	p.E729A	ENST00000573034	19/22	52	31	21	31	31	0	strelka-varscan-mutect	SRGAP2,missense_variant,p.Glu729Ala,ENST00000573034,NM_015326.4;SRGAP2,missense_variant,p.Glu728Ala,ENST00000624873,NM_001170637.3;SRGAP2,missense_variant,p.Glu728Ala,ENST00000605610,NM_001300952.1;SRGAP2,missense_variant,p.Glu343Ala,ENST00000605476,;SRGAP2,missense_variant,p.Glu112Ala,ENST00000604925,;SRGAP2,missense_variant,p.Glu3Ala,ENST00000604010,;SRGAP2,upstream_gene_variant,,ENST00000604247,;	C	ENST00000573034	Transcript	missense_variant	2248/6301	2186/3216	729/1071	E/A	gAg/gCg		1		1	SRGAP2	HGNC	HGNC:19751	protein_coding	YES	CCDS73017.1	ENSP00000459615		A2RUF3	UPI0000DC3AA7	NM_015326.4	deleterious(0.04)		19/22		Gene3D:2.30.30.40,PROSITE_profiles:PS50002,hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	206453206	206453206	A	C	1	0	0	0	0	1	0	0	0	15505	304	11	5		5	SRGAP2	1	206453206	Missense_Mutation	SNP	A	C3L-00080_TP	1394089	206453206	42503216	61	2272											
USH2A	0	.	GRCh38	chr1	215648638	215648638	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgagggtggggcaggatgGgttctcagttcagctgtcgg	5	10	18	8	1	2	1	2	1	1	0	4	2	2	2	1	6	1	4	1	6	0	2			C3L-00080_TP	C3L-00080_NB	G	G																c.14472C>A	p.=	p.T4824T	ENST00000307340	66/72	571	411	160	464	462	2	strelka-varscan-mutect	USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;	T	ENST00000307340	Transcript	synonymous_variant	14859/18883	14472/15609	4824/5202	T	acC/acA	COSM4865624,COSM903828	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			66/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,Superfamily_domains:SSF49265											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	7	215648638	215648638	G	T	1	0	0	0	0	0	0	0	1	17570	1219	43	2		2	USH2A	1	215648638	Silent	SNP	G	C3L-00080_TP	9195432	215648638	33307784	62	2273											
USH2A	0	.	GRCh38	chr1	215674325	215674325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatccctgagggtgctgagGggctggttcgatctttgaca	6	11	14	10	1	1	3	0	3	1	0	3	4	2	3	2	4	1	3	2	4	0	2	rs754560573		C3L-00080_TP	C3L-00080_NB	G	G																c.13586C>A	p.Pro4529His	p.P4529H	ENST00000307340	63/72	155	109	46	121	121	0	strelka-varscan-mutect	USH2A,missense_variant,p.Pro4529His,ENST00000307340,NM_206933.2;	T	ENST00000307340	Transcript	missense_variant	13973/18883	13586/15609	4529/5202	P/H	cCc/cAc	rs754560573,COSM5668917,COSM5668918	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		63/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00060,Superfamily_domains:SSF49265,Superfamily_domains:SSF49265											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs754560573	.												T	3	4	7	215674325	215674325	G	T	1	0	0	0	0	1	0	0	0	17570	1232	43	2		2	USH2A	1	215674325	Missense_Mutation	SNP	G	C3L-00080_TP	25687	215674325	33282097	63	2274											
USH2A	0	.	GRCh38	chr1	215743272	215743272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccaacggagaaggccagaGgtgttacacttccatcattg	12	8	11	10	1	1	2	1	0	0	2	2	4	2	2	3	3	2	1	3	3	3	3	rs774188386		C3L-00080_TP	C3L-00080_NB	G	G																c.11453C>A	p.Pro3818His	p.P3818H	ENST00000307340	59/72	281	241	40	245	244	1	strelka-varscan-mutect	USH2A,missense_variant,p.Pro3818His,ENST00000307340,NM_206933.2;	T	ENST00000307340	Transcript	missense_variant	11840/18883	11453/15609	3818/5202	P/H	cCt/cAt	rs774188386,COSM4873226,COSM903863	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(0.23)		59/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00060,Superfamily_domains:SSF49265											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs774188386	.												T	3	4	7	215743272	215743272	G	T	1	0	0	0	0	1	0	0	0	17570	1000	35	2		2	USH2A	1	215743272	Missense_Mutation	SNP	G	C3L-00080_TP	68947	215743272	33213150	64	2275											
USH2A	0	.	GRCh38	chr1	216199670	216199670	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattctacatgaagttctgtAgaactgattttctgcatctt	10	17	6	8	0	4	3	0	2	4	1	4	3	4	3	0	0	3	3	0	0	4	7	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.3768T>A	p.=	p.S1256S	ENST00000307340	17/72	296	212	84	253	253	0	strelka-varscan-mutect	USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;USH2A,synonymous_variant,p.=,ENST00000366942,NM_007123.5;RP5-1099E6.3,intron_variant,,ENST00000420867,;MRPS18BP1,downstream_gene_variant,,ENST00000414228,;	T	ENST00000307340	Transcript	synonymous_variant	4155/18883	3768/15609	1256/5202	S	tcT/tcA		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			17/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	216199670	216199670	A	T	1	0	0	0	0	0	0	0	1	17570	407	15	4		4	USH2A	1	216199670	Silent	SNP	A	C3L-00080_TP	456398	216199670	32756752	65	2276											
USH2A	0	.	GRCh38	chr1	216200035	216200035	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaagtgacagctacactccTtgttgaaccatgcacattgg	11	11	9	10	0	0	2	0	2	0	0	1	2	1	2	2	1	4	4	2	1	3	5	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.3403A>T	p.Arg1135Trp	p.R1135W	ENST00000307340	17/72	160	113	47	160	159	1	strelka-varscan-mutect	USH2A,missense_variant,p.Arg1135Trp,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Arg1135Trp,ENST00000366942,NM_007123.5;RP5-1099E6.3,intron_variant,,ENST00000420867,;MRPS18BP1,downstream_gene_variant,,ENST00000414228,;	A	ENST00000307340	Transcript	missense_variant	3790/18883	3403/15609	1135/5202	R/W	Agg/Tgg		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0.03)		17/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	216200035	216200035	T	A	1	0	0	0	0	1	0	0	0	17570	1608	56	4		4	USH2A	1	216200035	Missense_Mutation	SNP	T	C3L-00080_TP	365	216200035	32756387	66	2277											
ZC3H11B	0	.	GRCh38	chr1	219611330	219611330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggaacaggctcagggtGgagtaaaagactggaaactc	14	6	13	8	0	1	1	1	0	0	1	2	4	1	4	1	5	2	2	1	5	4	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.733C>A	p.His245Asn	p.H245N	ENST00000636126	2/2	89	55	34	60	60	0	varscan-mutect	ZC3H11B,missense_variant,p.His245Asn,ENST00000636126,;ZC3H11B,missense_variant,p.His245Asn,ENST00000367211,;	T	ENST00000636126	Transcript	missense_variant	1449/4432	733/2418	245/805	H/N	Cac/Aac		1		-1	ZC3H11B	HGNC	HGNC:25659	protein_coding	YES		ENSP00000489836			UPI000013E86C		deleterious(0)		2/2		hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	7	219611330	219611330	G	T	1	0	0	0	0	1	0	0	0	18135	1348	47	2		2	ZC3H11B	1	219611330	Missense_Mutation	SNP	G	C3L-00080_TP	3411295	219611330	29345092	67	2278											
LEFTY2	0	.	GRCh38	chr1	225940920	225940921	+	Frame_Shift_Ins	INS	-	-	T																															ctggctgaacctctttccgcINSgggagcggtccccgtggctg																								novel		C3L-00080_TP	C3L-00080_NB	-	-																c.220_221insA	p.Arg74GlnfsTer179	p.R74Qfs*179	ENST00000366820	1/4	306	214	92	272	272	0	sindel-varindel-pindel	LEFTY2,frameshift_variant,p.Arg74GlnfsTer179,ENST00000366820,NM_003240.3;LEFTY2,frameshift_variant,p.Arg74GlnfsTer145,ENST00000420304,NM_001172425.1;RP4-559A3.6,upstream_gene_variant,,ENST00000513672,;LEFTY2,upstream_gene_variant,,ENST00000474493,;	T	ENST00000366820	Transcript	frameshift_variant	569-570/2287	220-221/1101	74/366	R/QX	cgc/cAgc		1		-1	LEFTY2	HGNC	HGNC:3122	protein_coding	YES	CCDS1549.1	ENSP00000355785	O00292	A0A024R3P5	UPI0000136CBB	NM_003240.3			1/4		PIRSF_domain:PIRSF037402,Prints_domain:PR01427,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF167																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	7	225940920	225940920	-	T	1	0	1	1	0	0	0	0	0	8624	768	27	0		0	LEFTY2	1	225940920	Frame_Shift_Ins	INS	-	C3L-00080_TP	6329590	225940920	23015502	68	2279											
CAPN9	0	.	GRCh38	chr1	230767652	230767652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaggcccccgagaacttCtatgagattctagagaaggc	14	7	11	9	1	2	4	0	1	2	4	2	7	2	4	2	2	1	0	2	2	5	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.648C>T	p.=	p.F216F	ENST00000271971	5/20	273	207	66	195	195	0	strelka-varscan-mutect	CAPN9,synonymous_variant,p.=,ENST00000354537,NM_016452.1;CAPN9,synonymous_variant,p.=,ENST00000271971,NM_006615.2;CAPN9,synonymous_variant,p.=,ENST00000366666,NM_001319676.1;RP11-99J16__A.2,intron_variant,,ENST00000412344,;	T	ENST00000271971	Transcript	synonymous_variant	761/2362	648/2073	216/690	F	ttC/ttT		1		1	CAPN9	HGNC	HGNC:1486	protein_coding	YES	CCDS1586.1	ENSP00000271971	O14815		UPI000006E882	NM_006615.2			5/20		PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF311,hmmpanther:PTHR10183,Gene3D:3.90.70.10,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	230767652	230767652	C	T	1	0	0	0	0	0	0	0	1	2327	912	32	3		3	CAPN9	1	230767652	Silent	SNP	C	C3L-00080_TP	4826732	230767652	18188770	69	2280											
TRIM67	0	.	GRCh38	chr1	231204000	231204000	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagctggacgacggtgccggGggacagttccgggtgaggcc	6	5	20	10	4	0	1	0	1	0	0	1	5	1	3	3	6	2	2	3	6	0	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1668G>T	p.=	p.G556G	ENST00000366653	6/10	174	125	49	144	144	0	strelka-varscan-mutect	TRIM67,synonymous_variant,p.=,ENST00000444294,;TRIM67,synonymous_variant,p.=,ENST00000366653,NM_001004342.3;TRIM67,synonymous_variant,p.=,ENST00000449018,NM_001300889.1;	T	ENST00000366653	Transcript	synonymous_variant	1668/3936	1668/2352	556/783	G	ggG/ggT		1		1	TRIM67	HGNC	HGNC:31859	protein_coding	YES	CCDS44333.1	ENSP00000355613	Q6ZTA4		UPI0000418F23	NM_001004342.3			6/10		PROSITE_profiles:PS50853,hmmpanther:PTHR24103:SF292,hmmpanther:PTHR24103,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	7	231204000	231204000	G	T	1	0	0	0	0	0	0	0	1	17036	1219	43	2		2	TRIM67	1	231204000	Silent	SNP	G	C3L-00080_TP	436348	231204000	17752422	70	2281											
DISC1	0	.	GRCh38	chr1	231694435	231694435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccggggaacgtggagaagCagaaggctgcccaccatcca	11	4	14	12	2	0	2	0	0	0	2	1	4	1	3	4	4	4	2	4	4	3	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.677C>T	p.Ala226Val	p.A226V	ENST00000366633	2/10	587	444	143	476	476	0	strelka-varscan-mutect	DISC1,missense_variant,p.Ala226Val,ENST00000439617,NM_001164537.1,NM_018662.2;DISC1,missense_variant,p.Ala226Val,ENST00000622252,;DISC1,missense_variant,p.Ala226Val,ENST00000366637,NM_001012957.1;DISC1,missense_variant,p.Ala226Val,ENST00000620189,NM_001164540.1;DISC1,missense_variant,p.Ala226Val,ENST00000602281,NM_001164542.1,NM_001164544.1;DISC1,missense_variant,p.Ala226Val,ENST00000366633,NM_001164539.1;DISC1,missense_variant,p.Ala226Val,ENST00000539444,NM_001164545.1,NM_001164548.1;DISC1,missense_variant,p.Ala226Val,ENST00000317586,NM_001012958.1;DISC1,missense_variant,p.Ala226Val,ENST00000535983,NM_001164541.1,NM_001164538.1;DISC1,missense_variant,p.Ala226Val,ENST00000628350,NM_001164546.1,NM_001164549.1,NM_001164547.1;DISC1,missense_variant,p.Ala226Val,ENST00000537876,;DISC1,missense_variant,p.Ala226Val,ENST00000366636,NM_001012959.1;DISC1,intron_variant,,ENST00000602873,NM_001164556.1;DISC1,downstream_gene_variant,,ENST00000602600,;DISC1,missense_variant,p.Ala226Val,ENST00000535944,;DISC1,missense_variant,p.Ala226Val,ENST00000295051,;DISC1,missense_variant,p.Ala226Val,ENST00000602822,;DISC1,missense_variant,p.Ala226Val,ENST00000602713,;DISC1,missense_variant,p.Ala226Val,ENST00000602700,;DISC1,missense_variant,p.Ala226Val,ENST00000366632,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602567,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;DISC1,3_prime_UTR_variant,,ENST00000422590,;DISC1,non_coding_transcript_exon_variant,,ENST00000468399,;	T	ENST00000366633	Transcript	missense_variant	730/2676	677/2268	226/755	A/V	gCa/gTa		1		1	DISC1	HGNC	HGNC:2888	protein_coding	YES	CCDS53482.1	ENSP00000355593	Q9NRI5		UPI0001A61692	NM_001164539.1	tolerated(0.08)		2/10		hmmpanther:PTHR14332,hmmpanther:PTHR14332:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	231694435	231694435	C	T	1	0	0	0	0	1	0	0	0	4344	710	25	3		3	DISC1	1	231694435	Missense_Mutation	SNP	C	C3L-00080_TP	490435	231694435	17261987	71	2282											
PCNX2	0	.	GRCh38	chr1	233054326	233054326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatttccaatttcaatcagGtgaacaaaggcattgaggtc	13	11	8	9	0	2	2	2	2	0	0	4	2	3	2	2	3	1	1	2	3	4	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.4293C>A	p.His1431Gln	p.H1431Q	ENST00000258229	25/34	440	301	139	377	377	0	strelka-varscan-mutect	PCNX2,missense_variant,p.His1431Gln,ENST00000258229,NM_014801.3;PCNX2,missense_variant,p.His83Gln,ENST00000344698,;PCNX2,missense_variant,p.His453Gln,ENST00000462233,;PCNX2,non_coding_transcript_exon_variant,,ENST00000429988,;	T	ENST00000258229	Transcript	missense_variant	4528/7518	4293/6414	1431/2137	H/Q	caC/caA		1		-1	PCNX2	HGNC	HGNC:8736	protein_coding	YES	CCDS44335.1	ENSP00000258229	A6NKB5		UPI0000F58F23	NM_014801.3	deleterious(0.01)		25/34		hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5																	MODERATE	1	SNV	5			1										PASS		rs1007084323	.												T	3	4	7	233054326	233054326	G	T	1	0	0	0	0	1	0	0	0	11680	1252	44	2		2	PCNX2	1	233054326	Missense_Mutation	SNP	G	C3L-00080_TP	1359891	233054326	15902096	72	2283											
RYR2	0	.	GRCh38	chr1	237633656	237633656	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtataagtaggcagaatcaaAaagctatgtttgatcatctc	15	12	8	6	0	3	2	2	1	1	1	4	2	3	2	0	1	1	5	0	1	7	5	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.6634A>T	p.Lys2212Ter	p.K2212*	ENST00000366574	43/105	159	119	40	147	147	0	strelka-varscan-mutect	RYR2,stop_gained,p.Lys2212Ter,ENST00000366574,NM_001035.2;RYR2,stop_gained,p.Lys2196Ter,ENST00000360064,;	T	ENST00000366574	Transcript	stop_gained	6951/16562	6634/14904	2212/4967	K/*	Aaa/Taa		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			43/105		Superfamily_domains:0048280,Gene3D:1n4kA02,Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	7	237633656	237633656	A	T	1	0	0	0	0	0	1	0	0	14029	15	1	4		4	RYR2	1	237633656	Nonsense_Mutation	SNP	A	C3L-00080_TP	4579330	237633656	11322766	73	2284											
RYR2	0	.	GRCh38	chr1	237788033	237788033	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccaaggaagacaagggCaaacaaaagttgaggcagct	19	3	12	7	0	0	2	0	1	0	1	0	3	0	3	1	3	3	4	1	3	7	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.13374C>T	p.=	p.G4458G	ENST00000366574	92/105	294	224	70	207	207	0	strelka-varscan-mutect	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,downstream_gene_variant,,ENST00000609119,;RYR2,upstream_gene_variant,,ENST00000608590,;	T	ENST00000366574	Transcript	synonymous_variant	13691/16562	13374/14904	4458/4967	G	ggC/ggT		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			92/105		Pfam_domain:PF06459,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	237788033	237788033	C	T	1	0	0	0	0	0	0	0	1	14029	697	25	3		3	RYR2	1	237788033	Silent	SNP	C	C3L-00080_TP	154377	237788033	11168389	74	2285											
RYR2	0	.	GRCh38	chr1	237792141	237792141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggttgaaggaaaggagctcCccacgagaagttcaagtgaa	14	7	13	7	1	1	3	1	2	0	1	2	6	2	5	2	3	1	3	2	3	5	2	rs199624074		C3L-00080_TP	C3L-00080_NB	C	C																c.13600C>A	p.Pro4534Thr	p.P4534T	ENST00000366574	94/105	282	188	94	241	240	1	strelka-varscan-mutect	RYR2,missense_variant,p.Pro4534Thr,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Pro4517Thr,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000608590,;	A	ENST00000366574	Transcript	missense_variant	13917/16562	13600/14904	4534/4967	P/T	Ccc/Acc	rs199624074,COSM4234675,COSM679829	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.49)		94/105		Pfam_domain:PF06459,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75										uncertain_significance	0,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs199624074	.												A	3	1	7	237792141	237792141	C	A	1	0	0	0	0	1	0	0	0	14029	623	22	2		2	RYR2	1	237792141	Missense_Mutation	SNP	C	C3L-00080_TP	4108	237792141	11164281	75	2286											
RGS7	0	.	GRCh38	chr1	240868594	240868594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcttgcttaccacgggcCtgtgcacgtcccagaacgct	7	8	11	15	4	0	1	0	0	0	1	1	2	1	1	3	1	4	4	3	1	2	2			C3L-00080_TP	C3L-00080_NB	C	C																c.602G>T	p.Arg201Met	p.R201M	ENST00000366565	9/18	542	385	157	455	454	1	strelka-varscan-mutect	RGS7,missense_variant,p.Arg201Met,ENST00000366565,NM_002924.5;RGS7,missense_variant,p.Arg201Met,ENST00000366564,NM_001282778.1;RGS7,missense_variant,p.Arg201Met,ENST00000366563,NM_001282775.1;RGS7,missense_variant,p.Arg148Met,ENST00000348120,NM_001282773.1;RGS7,missense_variant,p.Arg32Met,ENST00000440928,;	A	ENST00000366565	Transcript	missense_variant	984/2494	602/1464	201/487	R/M	aGg/aTg	COSM3486063,COSM3486064,COSM3486065	1		-1	RGS7	HGNC	HGNC:10003	protein_coding	YES	CCDS31071.1	ENSP00000355523	P49802		UPI000040E182	NM_002924.5	deleterious(0)		9/18		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF26											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	7	240868594	240868594	C	A	1	0	0	0	0	1	0	0	0	13481	681	24	2		2	RGS7	1	240868594	Missense_Mutation	SNP	C	C3L-00080_TP	3076453	240868594	8087828	76	2287											
SDCCAG8	0	.	GRCh38	chr1	243286367	243286367	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaagacaagaggagacActgagggaacaaacacttct	17	6	9	9	0	2	4	1	1	2	3	3	6	2	5	0	2	2	0	0	2	4	1	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.516A>T	p.=	p.T172T	ENST00000366541	5/18	518	436	82	366	366	0	strelka-varscan-mutect	SDCCAG8,synonymous_variant,p.=,ENST00000366541,NM_006642.3;SDCCAG8,synonymous_variant,p.=,ENST00000476722,;SDCCAG8,upstream_gene_variant,,ENST00000435549,;SDCCAG8,non_coding_transcript_exon_variant,,ENST00000490065,;SDCCAG8,non_coding_transcript_exon_variant,,ENST00000482234,;	T	ENST00000366541	Transcript	synonymous_variant	634/2567	516/2142	172/713	T	acA/acT		1		1	SDCCAG8	HGNC	HGNC:10671	protein_coding	YES	CCDS31075.1	ENSP00000355499	Q86SQ7		UPI000000D77E	NM_006642.3			5/18		hmmpanther:PTHR34343,Pfam_domain:PF15964																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	243286367	243286367	A	T	1	0	0	0	0	0	0	0	1	14230	146	6	4		4	SDCCAG8	1	243286367	Silent	SNP	A	C3L-00080_TP	2417773	243286367	5670055	77	2288											
OR2G3	0	.	GRCh38	chr1	247605688	247605688	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtatttgtccttttcttcTacctcctgacccttgtggga	4	19	7	11	0	2	1	0	1	2	0	4	2	4	2	4	1	1	1	4	1	2	8	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.103T>A	p.Tyr35Asn	p.Y35N	ENST00000320002	1/1	161	136	25	117	117	0	strelka-varscan-mutect	OR2G3,missense_variant,p.Tyr35Asn,ENST00000320002,NM_001001914.1;U6,downstream_gene_variant,,ENST00000637707,;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;	A	ENST00000320002	Transcript	missense_variant	103/930	103/930	35/309	Y/N	Tac/Aac		1		1	OR2G3	HGNC	HGNC:15008	protein_coding	YES	CCDS31093.1	ENSP00000326301	Q8NGZ4	A0A126GVX0	UPI0000041CD9	NM_001001914.1	deleterious(0)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF300,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE		SNV				1										PASS		.	.												A	3	1	7	247605688	247605688	T	A	1	0	0	0	0	1	0	0	0	11077	1522	53	4		4	OR2G3	1	247605688	Missense_Mutation	SNP	T	C3L-00080_TP	4319321	247605688	1350734	78	2289											
OR14K1	0	.	GRCh38	chr1	247739352	247739352	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcctcacctcattgttgtCactgtgtttcttgtaacagg	6	16	9	10	0	4	0	3	0	1	0	4	0	4	0	2	1	2	3	2	1	1	5			C3L-00080_TP	C3L-00080_NB	C	C																c.738C>T	p.=	p.V246V	ENST00000283225	1/1	152	124	28	200	199	1	strelka-varscan-mutect	OR14K1,synonymous_variant,p.=,ENST00000283225,;RP11-634B7.4,intron_variant,,ENST00000449298,;	T	ENST00000283225	Transcript	synonymous_variant	738/945	738/945	246/314	V	gtC/gtT	COSM3386016	1		1	OR14K1	HGNC	HGNC:15025	protein_coding	YES		ENSP00000283225	Q8NGZ2		UPI0000041CBA				1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						LOW		SNV			1	1										PASS		.	.												T	2	4	7	247739352	247739352	C	T	1	0	0	0	0	0	0	0	1	11026	813	29	3		3	OR14K1	1	247739352	Silent	SNP	C	C3L-00080_TP	133664	247739352	1217070	79	2290											
OR14A16	0	.	GRCh38	chr1	247815436	247815437	+	Frame_Shift_Ins	INS	-	-	T																															aagaaagcaacaaaaagaccINStgggaaacacagccaaggaa																								novel		C3L-00080_TP	C3L-00080_NB	-	-																c.293dupA	p.Val99GlyfsTer21	p.V99Gfs*21	ENST00000357627	1/1	199	131	68	249	249	0	sindel-varindel-pindel	OR14A16,frameshift_variant,p.Val99GlyfsTer21,ENST00000357627,NM_001001966.1;	T	ENST00000357627	Transcript	frameshift_variant	293-294/930	293-294/930	98/309	Q/QX	cag/caAg		1		-1	OR14A16	HGNC	HGNC:15022	protein_coding	YES	CCDS31097.1	ENSP00000350248	Q8NHC5		UPI0000041CE2	NM_001001966.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF352,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	HIGH	1	insertion				1										PASS		.	.												T	7	5	7	247815436	247815436	-	T	1	0	1	1	0	0	0	0	0	11021	680	24	0		0	OR14A16	1	247815436	Frame_Shift_Ins	INS	-	C3L-00080_TP	76084	247815436	1140986	80	2291											
TRIM58	0	.	GRCh38	chr1	247864726	247864726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagtggaaatgcagaggCagcgcttcagattggagttt	13	9	14	5	1	1	3	1	0	0	3	1	5	1	5	0	3	2	4	0	3	2	3			C3L-00080_TP	C3L-00080_NB	C	C																c.538C>A	p.Gln180Lys	p.Q180K	ENST00000366481	3/6	243	142	101	240	240	0	strelka-varscan-mutect	TRIM58,missense_variant,p.Gln180Lys,ENST00000366481,NM_015431.3;	A	ENST00000366481	Transcript	missense_variant	586/3225	538/1461	180/486	Q/K	Cag/Aag	COSM3977434	1		1	TRIM58	HGNC	HGNC:24150	protein_coding	YES	CCDS1636.1	ENSP00000355437	Q8NG06		UPI000020590E	NM_015431.3	deleterious(0.03)		3/6		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF393											1						MODERATE	1	SNV	1		1	1										PASS		rs1460168750	.												A	3	1	7	247864726	247864726	C	A	1	0	0	0	0	1	0	0	0	17024	711	25	2		2	TRIM58	1	247864726	Missense_Mutation	SNP	C	C3L-00080_TP	49290	247864726	1091696	81	2292											
OR2W3	0	.	GRCh38	chr1	247896154	247896154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatccggatggcctgcGtcagcactgtggccatcgaa	7	8	12	14	3	1	1	1	1	0	0	3	3	2	2	4	3	2	1	4	3	1	0	rs12135078		C3L-00080_TP	C3L-00080_NB	G	G																c.568G>T	p.Val190Phe	p.V190F	ENST00000360358	1/1	125	77	48	98	98	0	strelka-varscan-mutect	OR2W3,missense_variant,p.Val190Phe,ENST00000360358,NM_001001957.2;	T	ENST00000360358	Transcript	missense_variant	568/945	568/945	190/314	V/F	Gtc/Ttc	rs12135078	1		1	OR2W3	HGNC	HGNC:15021	protein_coding	YES	CCDS31099.1	ENSP00000353516	Q7Z3T1		UPI0000061EA8	NM_001001957.2	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF223,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs12135078	.												T	3	4	7	247896154	247896154	G	T	1	0	0	0	0	1	0	0	0	11111	1145	40	1		1	OR2W3	1	247896154	Missense_Mutation	SNP	G	C3L-00080_TP	31428	247896154	1060268	82	2293											
OR2AK2	0	.	GRCh38	chr1	247965717	247965717	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggaactgaagcccttcTccttggttttatgtcttatg	6	17	10	8	0	2	1	0	1	2	0	3	2	2	2	2	3	2	1	2	3	4	5	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.386T>C	p.Leu129Pro	p.L129P	ENST00000366480	1/1	27	23	4	17	17	0	strelka-mutect	OR2AK2,missense_variant,p.Leu129Pro,ENST00000366480,NM_001004491.1;	C	ENST00000366480	Transcript	missense_variant	485/1107	386/1008	129/335	L/P	cTc/cCc		1		1	OR2AK2	HGNC	HGNC:19569	protein_coding	YES	CCDS31102.1	ENSP00000355436	Q8NG84		UPI00003B2873	NM_001004491.1	deleterious(0)		1/1		Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF299,hmmpanther:PTHR26453,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	7	247965717	247965717	T	C	1	0	0	0	0	1	0	0	0	11064	1551	54	5		5	OR2AK2	1	247965717	Missense_Mutation	SNP	T	C3L-00080_TP	69563	247965717	990705	83	2294											
OR2M7	0	.	GRCh38	chr1	248323831	248323831	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagtacattcccaccacCatgaggtgagaggaacaagt	14	7	9	11	0	0	2	0	2	0	1	1	4	1	3	4	2	2	1	4	2	4	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.738G>T	p.Met246Ile	p.M246I	ENST00000317965	1/1	235	191	44	197	196	1	strelka-varscan-mutect	OR2M7,missense_variant,p.Met246Ile,ENST00000317965,NM_001004691.1;	A	ENST00000317965	Transcript	missense_variant	738/939	738/939	246/312	M/I	atG/atT		1		-1	OR2M7	HGNC	HGNC:19594	protein_coding	YES	CCDS31111.1	ENSP00000324557	Q8NG81	A0A126GVZ1	UPI000004B236	NM_001004691.1	tolerated(0.38)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF28,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1395227553	.												A	3	1	7	248323831	248323831	C	A	1	0	0	0	0	1	0	0	0	11092	594	21	2		2	OR2M7	1	248323831	Missense_Mutation	SNP	C	C3L-00080_TP	358114	248323831	632591	84	2295											
OR14C36	0	.	GRCh38	chr1	248348939	248348939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacagcagccttcacatGcccatgtacttcttcctcag	8	12	7	14	0	3	1	2	1	1	0	4	1	4	1	3	0	4	2	3	0	1	4	rs766976784		C3L-00080_TP	C3L-00080_NB	G	G																c.165G>T	p.Met55Ile	p.M55I	ENST00000317861	1/1	148	97	51	151	149	2	strelka-varscan-mutect	OR14C36,missense_variant,p.Met55Ile,ENST00000317861,NM_001001918.1;	T	ENST00000317861	Transcript	missense_variant	165/939	165/939	55/312	M/I	atG/atT	rs766976784	1		1	OR14C36	HGNC	HGNC:15026	protein_coding	YES	CCDS31112.1	ENSP00000324534	Q8NHC7		UPI0000041CB1	NM_001001918.1	deleterious(0.04)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF180,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs766976784	.												T	3	4	7	248348939	248348939	G	T	1	0	0	0	0	1	0	0	0	11023	1319	46	2		2	OR14C36	1	248348939	Missense_Mutation	SNP	G	C3L-00080_TP	25108	248348939	607483	85	2296											
OR2T5	0	.	GRCh38	chr1	248488832	248488832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgtacatttctgtcactGtgcccaagatgctcctggac	7	12	10	12	1	2	1	1	0	1	1	3	2	3	2	2	2	3	2	2	2	2	2	rs758791792		C3L-00080_TP	C3L-00080_NB	G	G																c.244G>T	p.Val82Leu	p.V82L	ENST00000366473	1/1	110	97	13	98	98	0	varscan-mutect	OR2T5,missense_variant,p.Val82Leu,ENST00000366473,NM_001004697.1;RP11-407H12.8,upstream_gene_variant,,ENST00000450847,;	T	ENST00000366473	Transcript	missense_variant	244/948	244/948	82/315	V/L	Gtg/Ttg	rs758791792	1		1	OR2T5	HGNC	HGNC:15017	protein_coding	YES	CCDS31118.1	ENSP00000355429	Q6IEZ7		UPI0000041C43	NM_001004697.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF161,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs758791792	.												T	3	4	7	248488832	248488832	G	T	1	0	0	0	0	1	0	0	0	11105	1377	48	2		2	OR2T5	1	248488832	Missense_Mutation	SNP	G	C3L-00080_TP	139893	248488832	467590	86	2297											
TRAPPC12	0	.	GRCh38	chr2	3388011	3388011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggcacccagtagcggagggGccccgaggcaggacgcggcc	7	1	18	15	5	0	0	0	0	0	0	0	3	0	2	4	7	1	3	4	7	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.388G>T	p.Ala130Ser	p.A130S	ENST00000324266	2/12	75	39	36	58	58	0	strelka-varscan-mutect	TRAPPC12,missense_variant,p.Ala130Ser,ENST00000324266,NM_016030.5;TRAPPC12,missense_variant,p.Ala130Ser,ENST00000382110,NM_001321102.1;TRAPPC12,upstream_gene_variant,,ENST00000441983,;TRAPPC12,upstream_gene_variant,,ENST00000457845,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000482645,;TRAPPC12,upstream_gene_variant,,ENST00000411973,;	T	ENST00000324266	Transcript	missense_variant	583/2508	388/2208	130/735	A/S	Gcc/Tcc		1		1	TRAPPC12	HGNC	HGNC:24284	protein_coding	YES	CCDS1652.1	ENSP00000324318	Q8WVT3		UPI000014132D	NM_016030.5	tolerated_low_confidence(1)		2/12		hmmpanther:PTHR21581,hmmpanther:PTHR21581:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	3388011	3388011	G	T	1	0	0	0	0	1	0	0	0	16942	1203	42	2		2	TRAPPC12	2	3388011	Missense_Mutation	SNP	G	C3L-00080_TP		3388011	238805518	87	2298											
APOB	0	.	GRCh38	chr2	21041074	21041074	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcagagctggggaacctCcagctcaacctgagaattca	11	7	11	12	0	2	2	2	1	0	2	3	4	3	3	3	2	5	4	3	2	3	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.247G>T	p.Glu83Ter	p.E83*	ENST00000233242	4/29	232	125	107	255	255	0	strelka-varscan-mutect	APOB,stop_gained,p.Glu83Ter,ENST00000233242,NM_000384.2;APOB,stop_gained,p.Glu83Ter,ENST00000399256,;	A	ENST00000233242	Transcript	stop_gained	375/14121	247/13692	83/4563	E/*	Gag/Tag		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			4/29		PROSITE_profiles:PS51211,hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Pfam_domain:PF01347,Gene3D:1lshA01,SMART_domains:SM00638,Superfamily_domains:SSF56968																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	7	21041074	21041074	C	A	1	0	0	0	0	0	1	0	0	907	864	30	2		2	APOB	2	21041074	Nonsense_Mutation	SNP	C	C3L-00080_TP	17653063	21041074	221152455	88	2299											
OTOF	0	.	GRCh38	chr2	26460910	26460910	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccaccagcctttgacgCgcttttgcttgaagatggac	7	10	13	11	2	0	3	0	2	0	1	0	4	0	4	3	3	2	2	3	3	1	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.5654G>C	p.Arg1885Pro	p.R1885P	ENST00000272371	44/47	454	355	99	263	263	0	strelka-varscan-mutect	OTOF,missense_variant,p.Arg1885Pro,ENST00000272371,NM_194248.2;OTOF,missense_variant,p.Arg1885Pro,ENST00000403946,NM_001287489.1;OTOF,missense_variant,p.Arg1195Pro,ENST00000402415,NM_194322.2;OTOF,missense_variant,p.Arg1118Pro,ENST00000338581,NM_004802.3;OTOF,missense_variant,p.Arg1118Pro,ENST00000339598,NM_194323.2;DRC1,downstream_gene_variant,,ENST00000288710,NM_145038.3;OTOF,downstream_gene_variant,,ENST00000464574,;	G	ENST00000272371	Transcript	missense_variant	5781/7156	5654/5994	1885/1997	R/P	cGc/cCc		1		-1	OTOF	HGNC	HGNC:8515	protein_coding	YES	CCDS1725.1	ENSP00000272371	Q9HC10		UPI000013D94D	NM_194248.2	deleterious(0)		44/47		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32,Gene3D:2.60.40.150,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		rs1470759825	.												G	3	3	7	26460910	26460910	C	G	1	0	0	0	0	1	0	0	0	11369	768	27	4		4	OTOF	2	26460910	Missense_Mutation	SNP	C	C3L-00080_TP	5419836	26460910	215732619	89	2300											
C2orf16	0	.	GRCh38	chr2	27579223	27579223	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgcctggaggcagcgacTaccaagaaaatatctctcca	13	8	8	12	1	2	1	1	0	1	1	4	3	3	2	3	2	3	1	3	2	5	2	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.2651T>A	p.Leu884Gln	p.L884Q	ENST00000408964	1/1	490	446	44	274	274	0	strelka-varscan-mutect	C2orf16,missense_variant,p.Leu884Gln,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271289.1,NM_001271318.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271287.1,NM_001271288.1;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000379717,;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,;	A	ENST00000408964	Transcript	missense_variant	2702/6199	2651/5955	884/1984	L/Q	cTa/cAa		1		1	C2orf16	HGNC	HGNC:25275	protein_coding	YES	CCDS42666.1	ENSP00000386190	Q68DN1		UPI0000D61179	NM_032266.3	deleterious(0)		1/1		hmmpanther:PTHR33888																	MODERATE		SNV				1										PASS		.	.												A	3	1	7	27579223	27579223	T	A	1	0	0	0	0	1	0	0	0	2032	1522	53	4		4	C2orf16	2	27579223	Missense_Mutation	SNP	T	C3L-00080_TP	1118313	27579223	214614306	90	2301											
C2orf71	0	.	GRCh38	chr2	29071399	29071399	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaggcgatggccttccGgggctgcctgtagaggctgg	4	8	18	11	2	0	1	0	0	0	1	1	2	1	1	4	6	2	3	4	6	1	2	rs750992193		C3L-00080_TP	C3L-00080_NB	G	G																c.2863C>A	p.=	p.R955R	ENST00000331664	1/2	481	426	55	250	250	0	strelka-varscan-mutect	C2orf71,synonymous_variant,p.=,ENST00000331664,NM_001029883.2;	T	ENST00000331664	Transcript	synonymous_variant	2863/7044	2863/3867	955/1288	R	Cgg/Agg	rs750992193	1		-1	C2orf71	HGNC	HGNC:34383	protein_coding	YES	CCDS42669.1	ENSP00000332809	A6NGG8		UPI0000251DD8	NM_001029883.2			1/2		Pfam_domain:PF15449,hmmpanther:PTHR22017																	LOW	1	SNV	2			1										PASS		rs750992193	.												T	2	4	7	29071399	29071399	G	T	1	0	0	0	0	0	0	0	1	2045	1115	39	1		1	C2orf71	2	29071399	Silent	SNP	G	C3L-00080_TP	1492176	29071399	213122130	91	2302											
VIT	0	.	GRCh38	chr2	36808731	36808731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgacacggacacgcgcatcgGggccgtgcagtacacctacg	9	4	13	15	7	0	0	0	0	0	0	1	2	0	1	2	3	3	3	2	3	2	2			C3L-00080_TP	C3L-00080_NB	G	G																c.1649G>T	p.Gly550Val	p.G550V	ENST00000379242	15/16	266	239	27	173	173	0	strelka-varscan-mutect	VIT,missense_variant,p.Gly550Val,ENST00000379242,NM_053276.3;VIT,missense_variant,p.Gly535Val,ENST00000389975,NM_001177969.1;VIT,missense_variant,p.Gly204Val,ENST00000497382,;VIT,missense_variant,p.Gly513Val,ENST00000379241,NM_001177971.1;VIT,missense_variant,p.Gly487Val,ENST00000404084,;VIT,missense_variant,p.Gly514Val,ENST00000401530,NM_001177970.1;	T	ENST00000379242	Transcript	missense_variant	1951/2810	1649/2082	550/693	G/V	gGg/gTg	COSM1196421	1		1	VIT	HGNC	HGNC:12697	protein_coding	YES	CCDS33180.1	ENSP00000368544	Q6UXI7		UPI000006E0F8	NM_053276.3	deleterious(0)		15/16		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF107,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300,Prints_domain:PR00453											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	7	36808731	36808731	G	T	1	0	0	0	0	1	0	0	0	17718	1232	43	2		2	VIT	2	36808731	Missense_Mutation	SNP	G	C3L-00080_TP	7737332	36808731	205384798	92	2303											
GALM	0	.	GRCh38	chr2	38675954	38675954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttggagcagttattgggaGggtggccaaccgaatcgcca	9	9	14	9	2	0	0	0	0	0	0	1	3	0	2	3	4	2	2	3	4	3	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.233G>T	p.Arg78Met	p.R78M	ENST00000272252	2/7	334	171	163	186	186	0	strelka-varscan-mutect	GALM,missense_variant,p.Arg78Met,ENST00000272252,NM_138801.2;GALM,intron_variant,,ENST00000410063,;AC074366.3,upstream_gene_variant,,ENST00000446277,;GALM,non_coding_transcript_exon_variant,,ENST00000427858,;GALM,missense_variant,p.Arg51Met,ENST00000444351,;	T	ENST00000272252	Transcript	missense_variant	485/2484	233/1029	78/342	R/M	aGg/aTg		1		1	GALM	HGNC	HGNC:24063	protein_coding	YES	CCDS1797.1	ENSP00000272252	Q96C23		UPI00000702E1	NM_138801.2	deleterious(0)		2/7		Gene3D:2.70.98.10,Pfam_domain:PF01263,PIRSF_domain:PIRSF005096,hmmpanther:PTHR10091,hmmpanther:PTHR10091:SF0,Superfamily_domains:SSF74650																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	38675954	38675954	G	T	1	0	0	0	0	1	0	0	0	6073	1000	35	2		2	GALM	2	38675954	Missense_Mutation	SNP	G	C3L-00080_TP	1867223	38675954	203517575	93	2304											
TMEM178A	0	.	GRCh38	chr2	39666024	39666024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcctcggcctcagcctgtGctccctggggctgctcgtca	3	9	12	17	2	2	0	2	0	0	0	5	0	3	0	4	3	4	3	4	3	0	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.50G>C	p.Cys17Ser	p.C17S	ENST00000281961	1/4	190	147	43	133	133	0	strelka-varscan-mutect	TMEM178A,missense_variant,p.Cys17Ser,ENST00000281961,NM_152390.2;TMEM178A,missense_variant,p.Cys17Ser,ENST00000618232,;AC007246.3,downstream_gene_variant,,ENST00000415640,;TMEM178A,intron_variant,,ENST00000482239,;TMEM178A,intron_variant,,ENST00000437068,;	C	ENST00000281961	Transcript	missense_variant	106/1662	50/894	17/297	C/S	tGc/tCc		1		1	TMEM178A	HGNC	HGNC:28517	protein_coding	YES	CCDS1804.1	ENSP00000281961	Q8NBL3		UPI000003B0C0	NM_152390.2	deleterious(0.04)		1/4		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR32005:SF4,hmmpanther:PTHR32005,Pfam_domain:PF13903																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	39666024	39666024	G	C	1	0	0	0	0	1	0	0	0	16539	1319	46	4		4	TMEM178A	2	39666024	Missense_Mutation	SNP	G	C3L-00080_TP	990070	39666024	202527505	94	2305											
FSHR	0	.	GRCh38	chr2	48963484	48963484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcaaagacagtgaaaaagCcagcagcatcacagcctgcc	15	4	10	12	0	1	2	1	1	0	1	1	2	1	2	3	1	5	3	3	1	3	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1337G>T	p.Gly446Val	p.G446V	ENST00000406846	10/10	316	181	135	202	202	0	strelka-varscan-mutect	FSHR,missense_variant,p.Gly446Val,ENST00000406846,NM_000145.3;FSHR,missense_variant,p.Gly420Val,ENST00000304421,NM_181446.2;FSHR,downstream_gene_variant,,ENST00000454032,;RP11-460M2.1,intron_variant,,ENST00000634588,;	A	ENST00000406846	Transcript	missense_variant	1457/2784	1337/2088	446/695	G/V	gGc/gTc		1		-1	FSHR	HGNC	HGNC:3969	protein_coding	YES	CCDS1843.1	ENSP00000384708			UPI000013E97A	NM_000145.3	deleterious(0)		10/10		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00373,PROSITE_profiles:PS50262,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF5,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	48963484	48963484	C	A	1	0	0	0	0	1	0	0	0	5947	739	26	2		2	FSHR	2	48963484	Missense_Mutation	SNP	C	C3L-00080_TP	9297460	48963484	193230045	95	2306											
NRXN1	0	.	GRCh38	chr2	50538600	50538600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcactctcaccaggagcaGtgtagggagtacgcaacgtg	10	8	12	11	2	2	0	2	0	2	0	4	2	2	2	1	2	3	4	1	2	3	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1916C>A	p.Thr639Asn	p.T639N	ENST00000404971	11/24	22	12	10	15	15	0	strelka-varscan-mutect	NRXN1,missense_variant,p.Thr599Asn,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Thr591Asn,ENST00000625672,;NRXN1,missense_variant,p.Thr639Asn,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Thr599Asn,ENST00000401669,;NRXN1,missense_variant,p.Thr587Asn,ENST00000405472,;NRXN1,missense_variant,p.Thr591Asn,ENST00000630543,;NRXN1,missense_variant,p.Thr329Asn,ENST00000406859,;NRXN1,missense_variant,p.Thr314Asn,ENST00000402717,;NRXN1,intron_variant,,ENST00000495871,;NRXN1,downstream_gene_variant,,ENST00000638037,;NRXN1,non_coding_transcript_exon_variant,,ENST00000636298,;NRXN1,non_coding_transcript_exon_variant,,ENST00000637207,;NRXN1,non_coding_transcript_exon_variant,,ENST00000637653,;NRXN1,missense_variant,p.Thr326Asn,ENST00000331040,;	T	ENST00000404971	Transcript	missense_variant	3256/7578	1916/4644	639/1547	T/N	aCt/aAt		1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	tolerated(0.37)		11/24		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	50538600	50538600	G	T	1	0	0	0	0	1	0	0	0	10724	1029	36	2		2	NRXN1	2	50538600	Missense_Mutation	SNP	G	C3L-00080_TP	1575116	50538600	191654929	96	2307											
PSME4	0	.	GRCh38	chr2	53970740	53970740	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggctcgggacgcccgccCggctccgggggctctccgac	2	4	15	20	7	1	0	0	0	1	0	4	2	2	1	5	5	0	3	5	5	0	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.45G>T	p.=	p.P15P	ENST00000404125	1/47	220	117	103	113	113	0	strelka-varscan-mutect	PSME4,synonymous_variant,p.=,ENST00000404125,NM_014614.2;ACYP2,upstream_gene_variant,,ENST00000422521,;ACYP2,upstream_gene_variant,,ENST00000607452,;ACYP2,upstream_gene_variant,,ENST00000606082,;PSME4,non_coding_transcript_exon_variant,,ENST00000481518,;ACYP2,upstream_gene_variant,,ENST00000458030,;PSME4,synonymous_variant,p.=,ENST00000389993,;	A	ENST00000404125	Transcript	synonymous_variant	101/7099	45/5532	15/1843	P	ccG/ccT		1		-1	PSME4	HGNC	HGNC:20635	protein_coding	YES	CCDS33197.2	ENSP00000384211	Q14997		UPI0000F3BE4A	NM_014614.2			1/47		hmmpanther:PTHR32170,hmmpanther:PTHR32170:SF3,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	53970740	53970740	C	A	1	0	0	0	0	0	0	0	1	12860	639	23	1		1	PSME4	2	53970740	Silent	SNP	C	C3L-00080_TP	3432140	53970740	188222789	97	2308											
DYSF	0	.	GRCh38	chr2	71669200	71669200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagatgagcgacatttatGtgaaagggtagggagccagc	14	7	15	5	1	0	4	0	2	0	2	0	6	0	5	1	2	3	1	1	2	4	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.5635G>T	p.Val1879Leu	p.V1879L	ENST00000410020	50/56	571	360	211	376	375	1	strelka-varscan-mutect	DYSF,missense_variant,p.Val1840Leu,ENST00000258104,NM_003494.3,NM_001130976.1;DYSF,missense_variant,p.Val1878Leu,ENST00000409582,NM_001130981.1,NM_001130977.1;DYSF,missense_variant,p.Val1871Leu,ENST00000413539,NM_001130979.1;DYSF,missense_variant,p.Val1861Leu,ENST00000429174,NM_001130978.1;DYSF,missense_variant,p.Val1857Leu,ENST00000409762,NM_001130980.1;DYSF,missense_variant,p.Val1879Leu,ENST00000410020,NM_001130987.1;DYSF,missense_variant,p.Val1872Leu,ENST00000409651,NM_001130982.1;DYSF,missense_variant,p.Val1862Leu,ENST00000409366,NM_001130983.1;DYSF,missense_variant,p.Val1858Leu,ENST00000410041,NM_001130985.1;DYSF,missense_variant,p.Val1848Leu,ENST00000409744,NM_001130984.1,NM_001130986.1;DYSF,missense_variant,p.Val1841Leu,ENST00000394120,NM_001130455.1;DYSF,non_coding_transcript_exon_variant,,ENST00000479049,;	T	ENST00000410020	Transcript	missense_variant	5776/6657	5635/6360	1879/2119	V/L	Gtg/Ttg		1		1	DYSF	HGNC	HGNC:3097	protein_coding	YES	CCDS46328.1	ENSP00000386881	O75923		UPI000171F710	NM_001130987.1	deleterious(0.01)		50/56		Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF33,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		rs886042880	.												T	3	4	7	71669200	71669200	G	T	1	0	0	0	0	1	0	0	0	4683	1377	48	2		2	DYSF	2	71669200	Missense_Mutation	SNP	G	C3L-00080_TP	17698460	71669200	170524329	98	2309											
C2orf78	0	.	GRCh38	chr2	73816169	73816169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagatcgatatgaaaactgGattctcttcctccaggaccc	13	10	7	11	1	1	2	0	1	1	1	5	5	3	4	3	2	1	0	3	2	4	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1946G>T	p.Gly649Val	p.G649V	ENST00000409561	3/3	357	264	93	231	231	0	strelka-varscan-mutect	C2orf78,missense_variant,p.Gly649Val,ENST00000409561,NM_001080474.1;	T	ENST00000409561	Transcript	missense_variant	2067/3045	1946/2769	649/922	G/V	gGa/gTa		1		1	C2orf78	HGNC	HGNC:34349	protein_coding	YES	CCDS46338.1	ENSP00000387124	A6NCI8		UPI000015FD87	NM_001080474.1	deleterious(0)		3/3		hmmpanther:PTHR31466,hmmpanther:PTHR31466:SF1																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	7	73816169	73816169	G	T	1	0	0	0	0	1	0	0	0	2050	1174	41	2		2	C2orf78	2	73816169	Missense_Mutation	SNP	G	C3L-00080_TP	2146969	73816169	168377360	99	2310											
TET3	0	.	GRCh38	chr2	74046517	74046517	+	Frame_Shift_Del	DEL	G	G	-																															ctggaagatgcccacgatctGgtggccttttcggctgtggc																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.601delG	p.Val201TrpfsTer28	p.V201Wfs*28	ENST00000409262	3/11	217	146	71	173	173	0	sindel-varindel-pindel	TET3,frameshift_variant,p.Val201TrpfsTer28,ENST00000409262,NM_001287491.1;TET3,frameshift_variant,p.Val108TrpfsTer28,ENST00000305799,;TET3,upstream_gene_variant,,ENST00000475405,;	-	ENST00000409262	Transcript	frameshift_variant	600/11388	600/5388	200/1795	L/X	ctG/ct		1		1	TET3	HGNC	HGNC:28313	protein_coding	YES	CCDS46339.2	ENSP00000386869	O43151	K9JJH7	UPI0002A87FCB	NM_001287491.1			3/11		hmmpanther:PTHR23358:SF4,hmmpanther:PTHR23358																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	7	74046517	74046517	G	-	1	0	1	0	1	0	0	0	0	16192	1335	47	0		0	TET3	2	74046517	Frame_Shift_Del	DEL	G	C3L-00080_TP	230348	74046517	168147012	100	2311											
REG3A	0	.	GRCh38	chr2	79158350	79158350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggggtcatggagcccaatCcagacgtatgagtagctgtt	9	10	14	8	1	1	2	1	1	0	1	2	3	2	3	2	3	2	4	2	3	3	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.309G>T	p.Trp103Cys	p.W103C	ENST00000393878	3/5	206	155	51	132	131	1	strelka-varscan-mutect	REG3A,missense_variant,p.Trp103Cys,ENST00000393878,NM_138938.2;REG3A,missense_variant,p.Trp103Cys,ENST00000409839,NM_002580.2,NM_138937.2;REG3A,missense_variant,p.Trp103Cys,ENST00000305165,;AC011754.1,upstream_gene_variant,,ENST00000415201,;REG3A,downstream_gene_variant,,ENST00000464746,;REG3A,downstream_gene_variant,,ENST00000490901,;	A	ENST00000393878	Transcript	missense_variant	657/1095	309/528	103/175	W/C	tgG/tgT		1		-1	REG3A	HGNC	HGNC:8601	protein_coding	YES	CCDS1965.1	ENSP00000377456	Q06141	Q53S56	UPI0000001C5B	NM_138938.2	deleterious(0.02)		3/5		PROSITE_profiles:PS50041,hmmpanther:PTHR22801:SF45,hmmpanther:PTHR22801,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	79158350	79158350	C	A	1	0	0	0	0	1	0	0	0	13382	856	30	2		2	REG3A	2	79158350	Missense_Mutation	SNP	C	C3L-00080_TP	5111833	79158350	163035179	101	2312											
REG3A	0	.	GRCh38	chr2	79159336	79159336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaagcaatctcaccttgaaCctgagacagcagcatgaggc	14	6	9	12	0	1	3	1	3	1	1	2	4	1	3	2	1	4	3	2	1	3	1			C3L-00080_TP	C3L-00080_NB	C	C																c.70G>T	p.Val24Phe	p.V24F	ENST00000393878	1/5	291	180	111	145	145	0	strelka-varscan-mutect	REG3A,missense_variant,p.Val24Phe,ENST00000393878,NM_138938.2;REG3A,missense_variant,p.Val24Phe,ENST00000409839,NM_002580.2,NM_138937.2;REG3A,missense_variant,p.Val24Phe,ENST00000305165,;AC011754.1,intron_variant,,ENST00000415201,;REG3A,non_coding_transcript_exon_variant,,ENST00000464746,;REG3A,non_coding_transcript_exon_variant,,ENST00000490901,;	A	ENST00000393878	Transcript	missense_variant	418/1095	70/528	24/175	V/F	Gtt/Ttt	COSM4095898	1		-1	REG3A	HGNC	HGNC:8601	protein_coding	YES	CCDS1965.1	ENSP00000377456	Q06141	Q53S56	UPI0000001C5B	NM_138938.2	tolerated(0.07)		1/5		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR22801:SF45,hmmpanther:PTHR22801											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	7	79159336	79159336	C	A	1	0	0	0	0	1	0	0	0	13382	507	18	2		2	REG3A	2	79159336	Missense_Mutation	SNP	C	C3L-00080_TP	986	79159336	163034193	102	2313											
KRCC1	0	.	GRCh38	chr2	88027814	88027814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatagactggtcccaaagCatttcctcctctgtcctttc	9	13	6	13	0	1	2	0	0	1	2	6	2	5	2	4	1	1	1	4	1	3	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.750G>T	p.Met250Ile	p.M250I	ENST00000347055	4/4	69	64	5	58	58	0	varscan-mutect	KRCC1,missense_variant,p.Met250Ile,ENST00000347055,NM_016618.2,NM_001304526.1;	A	ENST00000347055	Transcript	missense_variant	1144/1753	750/780	250/259	M/I	atG/atT		1		-1	KRCC1	HGNC	HGNC:28039	protein_coding	YES	CCDS2000.1	ENSP00000340083	Q9NPI7	A0A024R5P4	UPI000004A006	NM_016618.2,NM_001304526.1	tolerated(0.24)		4/4		hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	88027814	88027814	C	A	1	0	0	0	0	1	0	0	0	8323	710	25	2		2	KRCC1	2	88027814	Missense_Mutation	SNP	C	C3L-00080_TP	8868478	88027814	154165715	103	2314											
SMYD1	0	.	GRCh38	chr2	88087986	88087986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggaggagcagaaggacCtgcgggtggacgtggacaca	11	3	20	7	2	0	1	0	0	0	1	0	7	0	7	1	7	2	1	1	7	1	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.439C>T	p.=	p.L147L	ENST00000419482	3/10	332	287	45	194	194	0	strelka-varscan-mutect	SMYD1,synonymous_variant,p.=,ENST00000419482,NM_198274.3;SMYD1,synonymous_variant,p.=,ENST00000444564,;SMYD1,intron_variant,,ENST00000438570,;SMYD1,non_coding_transcript_exon_variant,,ENST00000468008,;	T	ENST00000419482	Transcript	synonymous_variant	524/4433	439/1473	147/490	L	Ctg/Ttg		1		1	SMYD1	HGNC	HGNC:20986	protein_coding	YES	CCDS33240.1	ENSP00000393453	Q8NB12	A0A0A6YYB2	UPI000006EB68	NM_198274.3			3/10		PROSITE_profiles:PS50280,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF184,Pfam_domain:PF00856,SMART_domains:SM00317,Superfamily_domains:SSF82199																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	88087986	88087986	C	T	1	0	0	0	0	0	0	0	1	15142	680	24	3		3	SMYD1	2	88087986	Silent	SNP	C	C3L-00080_TP	60172	88087986	154105543	104	2315											
RGPD4	0	.	GRCh38	chr2	107880082	107880082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggaagcagaggcaaccaGtgcagtccttatggagcaaa	13	6	13	9	1	0	1	0	0	0	1	2	3	1	3	2	3	4	4	2	3	4	1	rs149740184		C3L-00080_TP	C3L-00080_NB	G	G																c.5039G>T	p.Ser1680Ile	p.S1680I	ENST00000408999	21/23	563	494	69	399	399	0	strelka-varscan-mutect	RGPD4,missense_variant,p.Ser1680Ile,ENST00000408999,NM_182588.2;	T	ENST00000408999	Transcript	missense_variant	5116/5464	5039/5277	1680/1758	S/I	aGt/aTt	rs149740184	1		1	RGPD4	HGNC	HGNC:32417	protein_coding	YES	CCDS46381.1	ENSP00000386810	Q7Z3J3		UPI0000418FF7	NM_182588.2	deleterious_low_confidence(0.02)		21/23		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF16704																	MODERATE	1	SNV	1			1										PASS		rs149740184	.												T	3	4	7	107880082	107880082	G	T	1	0	0	0	0	1	0	0	0	13460	1029	36	2		2	RGPD4	2	107880082	Missense_Mutation	SNP	G	C3L-00080_TP	19792096	107880082	134313447	105	2316											
ANAPC1	0	.	GRCh38	chr2	111769405	111769405	+	Frame_Shift_Del	DEL	C	C	-																															agttcagcaaagcttgtgctCcctaaaatggaaatggggtg																								rs774751273		C3L-00080_TP	C3L-00080_NB	C	C																c.5721delG	p.Ser1908AlafsTer14	p.S1908Afs*14	ENST00000341068	48/48	109	74	35	79	79	0	sindel-varindel	ANAPC1,frameshift_variant,p.Ser1908AlafsTer14,ENST00000341068,NM_022662.3;ANAPC1,intron_variant,,ENST00000427997,;MIR4771-2,downstream_gene_variant,,ENST00000577758,;ANAPC1,splice_region_variant,,ENST00000462785,;	-	ENST00000341068	Transcript	frameshift_variant,splice_region_variant	6494/8262	5721/5835	1907/1944	G/X	ggG/gg	rs774751273	1		-1	ANAPC1	HGNC	HGNC:19988	protein_coding	YES	CCDS2093.1	ENSP00000339109	Q9H1A4		UPI000006EC6E	NM_022662.3			48/48		hmmpanther:PTHR12827																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	7	111769405	111769405	C	-	1	0	1	0	1	0	0	0	0	695	869	30	0		0	ANAPC1	2	111769405	Frame_Shift_Del	DEL	C	C3L-00080_TP	3889323	111769405	130424124	106	2317	53	2									
ANAPC1	0	.	GRCh38	chr2	111769406	111769406	+	Missense_Mutation	SNP	C	C	G																															gttcagcaaagcttgtgctcCctaaaatggaaatggggtgg																								novel		C3L-00080_TP	C3L-00080_NB	C	C																c.5720G>C	p.Gly1907Ala	p.G1907A	ENST00000341068	48/48	114	79	35	80	80	0	strelka-mutect	ANAPC1,missense_variant,p.Gly1907Ala,ENST00000341068,NM_022662.3;ANAPC1,intron_variant,,ENST00000427997,;MIR4771-2,downstream_gene_variant,,ENST00000577758,;ANAPC1,splice_region_variant,,ENST00000462785,;	G	ENST00000341068	Transcript	missense_variant,splice_region_variant	6493/8262	5720/5835	1907/1944	G/A	gGg/gCg		1		-1	ANAPC1	HGNC	HGNC:19988	protein_coding	YES	CCDS2093.1	ENSP00000339109	Q9H1A4		UPI000006EC6E	NM_022662.3	deleterious(0.05)		48/48		hmmpanther:PTHR12827																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	111769406	111769406	C	G	1	0	0	0	0	1	0	0	0	695	637	22	4		4	ANAPC1	2	111769406	Missense_Mutation	SNP	C	C3L-00080_TP	1	111769406	130424123	107	2318	53	2									
GLI2	0	.	GRCh38	chr2	120984695	120984695	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcagcaccagccaggcCgtggaggactgcctgcacgt	8	4	14	15	2	0	0	0	0	0	0	0	2	0	2	5	3	5	3	5	3	0	0	rs200619416		C3L-00080_TP	C3L-00080_NB	C	C																c.1908C>A	p.=	p.A636A	ENST00000452319	12/14	346	243	103	234	234	0	strelka-varscan-mutect	GLI2,synonymous_variant,p.=,ENST00000452319,;GLI2,synonymous_variant,p.=,ENST00000361492,NM_005270.4;GLI2,non_coding_transcript_exon_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000438299,;GLI2,3_prime_UTR_variant,,ENST00000452692,;GLI2,3_prime_UTR_variant,,ENST00000437950,;	A	ENST00000452319	Transcript	synonymous_variant	1968/6799	1908/4761	636/1586	A	gcC/gcA	rs200619416	1		1	GLI2	HGNC	HGNC:4318	protein_coding	YES	CCDS33283.1	ENSP00000390436	P10070		UPI000053FCB4				12/14		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF73																	LOW	1	SNV	5			1										PASS		rs200619416	.												A	2	1	7	120984695	120984695	C	A	1	0	0	0	0	0	0	0	1	6316	639	23	1		1	GLI2	2	120984695	Silent	SNP	C	C3L-00080_TP	9215289	120984695	121208834	108	2319											
NCKAP5	0	.	GRCh38	chr2	132784987	132784987	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacggacttatcggtgtcGgcagccaatgacacgtctga	9	9	11	12	4	1	2	0	2	1	0	4	3	2	3	2	3	1	1	2	3	2	1	rs373377710		C3L-00080_TP	C3L-00080_NB	G	G																c.1824C>A	p.=	p.A608A	ENST00000409261	14/20	113	76	37	88	88	0	strelka-varscan-mutect	NCKAP5,synonymous_variant,p.=,ENST00000409261,NM_207363.2;NCKAP5,synonymous_variant,p.=,ENST00000317721,;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,intron_variant,,ENST00000409213,NM_207481.3;NCKAP5,upstream_gene_variant,,ENST00000473859,;	T	ENST00000409261	Transcript	synonymous_variant	2198/7594	1824/5730	608/1909	A	gcC/gcA	rs373377710	1		-1	NCKAP5	HGNC	HGNC:29847	protein_coding	YES	CCDS46418.1	ENSP00000387128	O14513		UPI0000E07A3F	NM_207363.2			14/20		hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF0																	LOW	1	SNV	5			1										PASS		rs373377710	.												T	2	4	7	132784987	132784987	G	T	1	0	0	0	0	0	0	0	1	10241	1103	39	1		1	NCKAP5	2	132784987	Silent	SNP	G	C3L-00080_TP	11800292	132784987	109408542	109	2320											
DARS	0	.	GRCh38	chr2	135933983	135933986	+	Frame_Shift_Del	DEL	ACAT	ACAT	-																															ggggttcagccaaactgatcAcataaatctgtaagtgagag																								novel		C3L-00080_TP	C3L-00080_NB	ACAT	ACAT																c.428_431delATGT	p.Tyr143Ter	p.Y143*	ENST00000264161	6/16	152	106	46	177	177	0	sindel-varindel-pindel	DARS,frameshift_variant,p.Tyr143Ter,ENST00000264161,NM_001293312.1,NM_001349.3;DARS,frameshift_variant,p.Tyr110Ter,ENST00000456565,;DARS,frameshift_variant,p.Tyr110Ter,ENST00000441323,;DARS,frameshift_variant,p.Tyr110Ter,ENST00000449218,;	-	ENST00000264161	Transcript	frameshift_variant	644-647/2361	428-431/1506	143-144/501	YV/X	tATGTg/tg		1		-1	DARS	HGNC	HGNC:2678	protein_coding	YES	CCDS2180.1	ENSP00000264161	P14868	A0A140VJW5	UPI000013639B	NM_001293312.1,NM_001349.3			6/16		Gene3D:2.40.50.140,Pfam_domain:PF01336,hmmpanther:PTHR22594,hmmpanther:PTHR22594:SF33,Superfamily_domains:SSF50249,TIGRFAM_domain:TIGR00458																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	7	135933983	135933983	ACAT	-	1	0	1	0	1	0	0	0	0	4041	159	6	0		0	DARS	2	135933983	Frame_Shift_Del	DEL	ACAT	C3L-00080_TP	3148996	135933983	106259546	110	2321											
LRP1B	0	.	GRCh38	chr2	140351015	140351015	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatcagtgtcattagcaaTgtagagaacttgatcttcag	13	13	9	6	0	4	2	3	1	1	1	4	4	4	2	0	0	2	2	0	0	5	5	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.11674A>T	p.Ile3892Phe	p.I3892F	ENST00000389484	77/91	141	101	40	198	198	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Ile3892Phe,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Ile124Phe,ENST00000437977,;	A	ENST00000389484	Transcript	missense_variant	12646/16535	11674/13800	3892/4599	I/F	Att/Ttt		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(0.06)		77/91		Gene3D:2.120.10.30,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	140351015	140351015	T	A	1	0	0	0	0	1	0	0	0	8850	1464	51	4		4	LRP1B	2	140351015	Missense_Mutation	SNP	T	C3L-00080_TP	4417032	140351015	101842514	111	2322											
ZEB2	0	.	GRCh38	chr2	144424818	144424818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccattgttaattgcggtCtggatcgtggcttctggccc	5	14	12	10	2	2	0	0	0	2	0	3	1	2	1	2	4	2	3	2	4	2	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.381G>T	p.Gln127His	p.Q127H	ENST00000637267	5/11	464	402	62	364	363	1	strelka-varscan-mutect	ZEB2,missense_variant,p.Gln127His,ENST00000637267,;ZEB2,missense_variant,p.Gln127His,ENST00000636471,;ZEB2,missense_variant,p.Gln127His,ENST00000627532,NM_014795.3;ZEB2,missense_variant,p.Gln127His,ENST00000636026,;ZEB2,missense_variant,p.Gln15His,ENST00000638087,;ZEB2,missense_variant,p.Gln15His,ENST00000637304,;ZEB2,missense_variant,p.Gln15His,ENST00000638007,;ZEB2,missense_variant,p.Gln15His,ENST00000637045,;ZEB2,missense_variant,p.Gln15His,ENST00000636413,;ZEB2,missense_variant,p.Gln127His,ENST00000409487,;ZEB2,missense_variant,p.Gln127His,ENST00000558170,;ZEB2,missense_variant,p.Gln126His,ENST00000303660,;ZEB2,missense_variant,p.Gln156His,ENST00000427902,;ZEB2,missense_variant,p.Gln122His,ENST00000440875,;ZEB2,missense_variant,p.Gln155His,ENST00000392861,;ZEB2,missense_variant,p.Gln127His,ENST00000465308,;ZEB2,intron_variant,,ENST00000638128,;ZEB2,intron_variant,,ENST00000539609,NM_001171653.1;ZEB2,intron_variant,,ENST00000419938,;ZEB2,intron_variant,,ENST00000431672,;ZEB2,intron_variant,,ENST00000409211,;ZEB2,non_coding_transcript_exon_variant,,ENST00000636820,;ZEB2,non_coding_transcript_exon_variant,,ENST00000636179,;ZEB2,downstream_gene_variant,,ENST00000479735,;ZEB2,3_prime_UTR_variant,,ENST00000636732,;ZEB2,downstream_gene_variant,,ENST00000472146,;ZEB2,downstream_gene_variant,,ENST00000461784,;ZEB2,downstream_gene_variant,,ENST00000476394,;ZEB2,downstream_gene_variant,,ENST00000434448,;	A	ENST00000637267	Transcript	missense_variant	1222/9856	381/3645	127/1214	Q/H	caG/caT		1		-1	ZEB2	HGNC	HGNC:14881	protein_coding	YES	CCDS2186.1	ENSP00000490293			UPI00001359A2		tolerated(0.45)		5/11		hmmpanther:PTHR24391,hmmpanther:PTHR24391:SF11																	MODERATE	1	SNV				1										PASS		rs1194832899	.												A	3	1	7	144424818	144424818	C	A	1	0	0	0	0	1	0	0	0	18200	912	32	2		2	ZEB2	2	144424818	Missense_Mutation	SNP	C	C3L-00080_TP	4073803	144424818	97768711	112	2323											
KCNH7	0	.	GRCh38	chr2	162517811	162517811	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggaccgaagatgctctccGtatactacataagctttccc	11	11	7	12	2	1	1	0	0	1	1	3	3	2	2	3	1	4	3	3	1	5	5	rs372420734		C3L-00080_TP	C3L-00080_NB	G	G																c.811C>A	p.=	p.R271R	ENST00000332142	4/16	193	144	49	174	174	0	strelka-varscan-mutect	KCNH7,synonymous_variant,p.=,ENST00000332142,NM_033272.3;KCNH7,synonymous_variant,p.=,ENST00000618399,;KCNH7,synonymous_variant,p.=,ENST00000328032,NM_173162.2;KCNH7,synonymous_variant,p.=,ENST00000621889,;KCNH7,non_coding_transcript_exon_variant,,ENST00000477019,;	T	ENST00000332142	Transcript	synonymous_variant	911/4113	811/3591	271/1196	R	Cgg/Agg	rs372420734,COSM3391050,COSM3391051	1		-1	KCNH7	HGNC	HGNC:18863	protein_coding	YES	CCDS2219.1	ENSP00000331727	Q9NS40		UPI0000167D11	NM_033272.3			4/16													0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs372420734	.												T	2	4	7	162517811	162517811	G	T	1	0	0	0	0	0	0	0	1	7953	1144	40	1		1	KCNH7	2	162517811	Silent	SNP	G	C3L-00080_TP	18092993	162517811	79675718	113	2324											
ABCB11	0	.	GRCh38	chr2	168944916	168944916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaaaagtaggcacacacCattgatctgtgacctttgtt	13	12	7	9	0	1	2	0	2	1	0	1	2	1	2	2	1	1	3	2	1	4	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2389G>T	p.Gly797Cys	p.G797C	ENST00000263817	20/28	125	91	34	125	124	1	strelka-varscan-mutect	ABCB11,missense_variant,p.Gly797Cys,ENST00000263817,NM_003742.2;ABCB11,3_prime_UTR_variant,,ENST00000439188,;	A	ENST00000263817	Transcript	missense_variant	2514/4775	2389/3966	797/1321	G/C	Ggt/Tgt		1		-1	ABCB11	HGNC	HGNC:42	protein_coding	YES	CCDS46444.1	ENSP00000263817	O95342		UPI0000163BFA	NM_003742.2	tolerated(0.18)		20/28		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF165,hmmpanther:PTHR24221,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	168944916	168944916	C	A	1	0	0	0	0	1	0	0	0	46	594	21	2		2	ABCB11	2	168944916	Missense_Mutation	SNP	C	C3L-00080_TP	6427105	168944916	73248613	114	2325											
LRP2	0	.	GRCh38	chr2	169177869	169177869	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgttgtgttcaccagtgTctgtctatttgatccatcat	6	18	9	8	0	4	1	2	1	2	0	5	1	5	1	2	0	0	2	2	0	1	4	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.10327A>T	p.Thr3443Ser	p.T3443S	ENST00000263816	53/79	572	411	161	462	462	0	strelka-varscan-mutect	LRP2,missense_variant,p.Thr3443Ser,ENST00000263816,NM_004525.2;LRP2,non_coding_transcript_exon_variant,,ENST00000461418,;	A	ENST00000263816	Transcript	missense_variant	10613/15808	10327/13968	3443/4655	T/S	Aca/Tca		1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2	tolerated(0.1)		53/79		Gene3D:2.120.10.30,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF232,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	169177869	169177869	T	A	1	0	0	0	0	1	0	0	0	8851	1667	58	4		4	LRP2	2	169177869	Missense_Mutation	SNP	T	C3L-00080_TP	232953	169177869	73015660	115	2326											
LRP2	0	.	GRCh38	chr2	169188094	169188094	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacgtgggttctggggtgtgGcacaggtgcatcagctcatc	6	10	15	10	1	3	0	2	0	1	0	4	0	3	0	0	5	2	4	0	5	0	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.9204C>A	p.Cys3068Ter	p.C3068*	ENST00000263816	49/79	517	372	145	446	445	1	strelka-varscan-mutect	LRP2,stop_gained,p.Cys3068Ter,ENST00000263816,NM_004525.2;	T	ENST00000263816	Transcript	stop_gained	9490/15808	9204/13968	3068/4655	C/*	tgC/tgA		1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2			49/79		PROSITE_patterns:PS01209,PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF232,SMART_domains:SM00181,SMART_domains:SM00192																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	7	169188094	169188094	G	T	1	0	0	0	0	0	1	0	0	8851	1195	42	2		2	LRP2	2	169188094	Nonsense_Mutation	SNP	G	C3L-00080_TP	10225	169188094	73005435	116	2327											
GORASP2	0	.	GRCh38	chr2	170965987	170965987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactactgcaaaggcagacGctgcctcctcactcactgtg	10	8	8	15	1	2	1	2	0	0	1	3	1	3	1	2	1	4	3	2	1	3	1	rs773046298		C3L-00080_TP	C3L-00080_NB	G	G																c.1216G>A	p.Ala406Thr	p.A406T	ENST00000234160	10/10	403	276	127	329	329	0	strelka-varscan-mutect	GORASP2,missense_variant,p.Ala406Thr,ENST00000234160,NM_001201428.1,NM_015530.4;GORASP2,downstream_gene_variant,,ENST00000493692,;GORASP2,3_prime_UTR_variant,,ENST00000442798,;GORASP2,non_coding_transcript_exon_variant,,ENST00000486498,;	A	ENST00000234160	Transcript	missense_variant	2031/3173	1216/1359	406/452	A/T	Gct/Act	rs773046298,COSM1401234	1		1	GORASP2	HGNC	HGNC:17500	protein_coding	YES	CCDS33325.1	ENSP00000234160	Q9H8Y8		UPI000007373B	NM_001201428.1,NM_015530.4	tolerated_low_confidence(0.34)		10/10		hmmpanther:PTHR12893,hmmpanther:PTHR12893:SF1,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs773046298	.												A	3	1	7	170965987	170965987	G	A	1	0	0	0	0	1	0	0	0	6470	1087	38	1		1	GORASP2	2	170965987	Missense_Mutation	SNP	G	C3L-00080_TP	1777893	170965987	71227542	117	2328											
CHN1	0	.	GRCh38	chr2	174812322	174812322	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctcacctctagactcaatCtccctgatgcacatgtctac	9	11	6	15	0	5	2	2	1	3	1	6	2	5	2	2	1	2	2	2	1	3	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.873G>A	p.=	p.E291E	ENST00000409900	9/13	118	96	22	62	62	0	strelka-varscan-mutect	CHN1,synonymous_variant,p.=,ENST00000409900,NM_001822.5;CHN1,synonymous_variant,p.=,ENST00000295497,NM_001206602.1;CHN1,synonymous_variant,p.=,ENST00000409156,NM_001025201.3;CHN1,synonymous_variant,p.=,ENST00000409597,;CHN1,synonymous_variant,p.=,ENST00000444394,;CHN1,synonymous_variant,p.=,ENST00000409089,;CHN1,synonymous_variant,p.=,ENST00000413882,;CHN1,synonymous_variant,p.=,ENST00000443238,;CHN1,downstream_gene_variant,,ENST00000444573,;CHN1,non_coding_transcript_exon_variant,,ENST00000488080,;CHN1,3_prime_UTR_variant,,ENST00000425395,;CHN1,non_coding_transcript_exon_variant,,ENST00000491801,;CHN1,non_coding_transcript_exon_variant,,ENST00000485882,;	T	ENST00000409900	Transcript	synonymous_variant	1187/2447	873/1380	291/459	E	gaG/gaA		1		-1	CHN1	HGNC	HGNC:1943	protein_coding	YES	CCDS46455.1	ENSP00000386741	P15882		UPI000012781D	NM_001822.5			9/13		Gene3D:1.10.555.10,Pfam_domain:PF00620,PIRSF_domain:PIRSF038015,PROSITE_profiles:PS50238,hmmpanther:PTHR23176,hmmpanther:PTHR23176:SF34,SMART_domains:SM00324,Superfamily_domains:SSF48350																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	174812322	174812322	C	T	1	0	0	0	0	0	0	0	1	3122	912	32	3		3	CHN1	2	174812322	Silent	SNP	C	C3L-00080_TP	3846335	174812322	67381207	118	2329											
TTN	0	.	GRCh38	chr2	178585108	178585108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattttctgagtgtctgtccCagaactgttctctgctgtga	6	16	10	9	0	3	3	0	2	3	1	5	4	4	3	1	0	2	2	1	0	1	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.64636G>A	p.Gly21546Arg	p.G21546R	ENST00000589042	309/363	82	56	26	75	75	0	strelka-varscan-mutect	TTN,missense_variant,p.Gly21546Arg,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Gly19905Arg,ENST00000591111,;TTN,missense_variant,p.Gly19905Arg,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Gly18978Arg,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Gly12481Arg,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Gly12673Arg,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Gly12606Arg,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000590743,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000629117,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000626517,;RP11-171I2.2,downstream_gene_variant,,ENST00000603521,;TTN-AS1,downstream_gene_variant,,ENST00000586707,;TTN-AS1,downstream_gene_variant,,ENST00000592600,;TTN-AS1,downstream_gene_variant,,ENST00000586831,;TTN-AS1,downstream_gene_variant,,ENST00000438095,;	T	ENST00000589042	Transcript	missense_variant	64861/109224	64636/107976	21546/35991	G/R	Ggg/Agg		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			309/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	7	178585108	178585108	C	T	1	0	0	0	0	1	0	0	0	17245	594	21	3		3	TTN	2	178585108	Missense_Mutation	SNP	C	C3L-00080_TP	3772786	178585108	63608421	119	2330											
TTN	0	.	GRCh38	chr2	178605542	178605542	+	Frame_Shift_Del	DEL	G	G	-																															caaccagaaaagatgtggttGggcagagtcgcttgttaact																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.53753delC	p.Pro17918GlnfsTer37	p.P17918Qfs*37	ENST00000589042	279/363	168	143	25	159	159	0	sindel-varindel-pindel	TTN,frameshift_variant,p.Pro17918GlnfsTer37,ENST00000589042,NM_001267550.2;TTN,frameshift_variant,p.Pro16277GlnfsTer37,ENST00000591111,;TTN,frameshift_variant,p.Pro16277GlnfsTer37,ENST00000615779,NM_001256850.1;TTN,frameshift_variant,p.Pro15350GlnfsTer37,ENST00000342992,NM_133378.4;TTN,frameshift_variant,p.Pro8853GlnfsTer37,ENST00000460472,NM_003319.4;TTN,frameshift_variant,p.Pro9045GlnfsTer37,ENST00000342175,NM_133437.4;TTN,frameshift_variant,p.Pro8978GlnfsTer37,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000610290,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000419746,;TTN-AS1,downstream_gene_variant,,ENST00000586452,;TTN-AS1,upstream_gene_variant,,ENST00000627527,;TTN-AS1,downstream_gene_variant,,ENST00000626517,;	-	ENST00000589042	Transcript	frameshift_variant	53978/109224	53753/107976	17918/35991	P/X	cCa/ca		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			279/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	HIGH		deletion	5			1										PASS		.	.												-	7	5	7	178605542	178605542	G	-	1	0	1	0	1	0	0	0	0	17245	1348	47	0		0	TTN	2	178605542	Frame_Shift_Del	DEL	G	C3L-00080_TP	20434	178605542	63587987	120	2331											
ITGA4	0	.	GRCh38	chr2	181482517	181482517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgttttgggacagcttGgatcgtactttggagcttct	5	17	13	6	1	1	0	0	0	1	0	2	3	1	3	0	4	3	5	0	4	1	7	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.907G>A	p.Gly303Arg	p.G303R	ENST00000397033	9/28	203	175	28	157	157	0	strelka-varscan-mutect	ITGA4,missense_variant,p.Gly303Arg,ENST00000397033,NM_000885.4;ITGA4,missense_variant,p.Gly303Arg,ENST00000233573,;ITGA4,downstream_gene_variant,,ENST00000478440,;ITGA4,non_coding_transcript_exon_variant,,ENST00000465522,;	A	ENST00000397033	Transcript	missense_variant	1337/4189	907/3099	303/1032	G/R	Gga/Aga		1		1	ITGA4	HGNC	HGNC:6140	protein_coding	YES	CCDS42788.1	ENSP00000380227	P13612		UPI000052D444	NM_000885.4	deleterious(0)		9/28		PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF78,hmmpanther:PTHR23220,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	181482517	181482517	G	A	1	0	0	0	0	1	0	0	0	7785	1362	47	3		3	ITGA4	2	181482517	Missense_Mutation	SNP	G	C3L-00080_TP	2876975	181482517	60711012	121	2332											
PDE1A	0	.	GRCh38	chr2	182201456	182201456	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctgcaggaaaaactcctCcattagggccatggtccacc	11	7	8	15	0	0	0	0	0	0	0	3	1	3	1	6	3	2	1	6	3	3	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1156G>T	p.Glu386Ter	p.E386*	ENST00000435564	10/15	170	120	50	135	135	0	strelka-varscan-mutect	PDE1A,stop_gained,p.Glu386Ter,ENST00000435564,NM_005019.4,NM_001258312.1;PDE1A,stop_gained,p.Glu370Ter,ENST00000351439,NM_001258313.1;PDE1A,stop_gained,p.Glu370Ter,ENST00000409365,;PDE1A,stop_gained,p.Glu352Ter,ENST00000358139,NM_001258314.1;PDE1A,stop_gained,p.Glu386Ter,ENST00000410103,NM_001003683.2;	A	ENST00000435564	Transcript	stop_gained	1357/4885	1156/1638	386/545	E/*	Gag/Tag		1		-1	PDE1A	HGNC	HGNC:8774	protein_coding	YES	CCDS2285.1	ENSP00000410309	P54750		UPI0000001072	NM_005019.4,NM_001258312.1			10/15		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF32,Pfam_domain:PF00233,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604,Prints_domain:PR00387																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	7	182201456	182201456	C	A	1	0	0	0	0	0	1	0	0	11721	864	30	2		2	PDE1A	2	182201456	Nonsense_Mutation	SNP	C	C3L-00080_TP	718939	182201456	59992073	122	2333											
PDE1A	0	.	GRCh38	chr2	182240161	182240161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacaatgctccgaaattttGgtttttcctcaggtttcttt	7	18	7	9	1	2	0	1	0	1	0	4	1	4	0	2	2	1	4	2	2	2	6	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.347C>A	p.Pro116Gln	p.P116Q	ENST00000435564	3/15	155	114	41	140	140	0	strelka-varscan-mutect	PDE1A,missense_variant,p.Pro116Gln,ENST00000435564,NM_005019.4,NM_001258312.1;PDE1A,missense_variant,p.Pro100Gln,ENST00000351439,NM_001258313.1;PDE1A,missense_variant,p.Pro100Gln,ENST00000409365,;PDE1A,missense_variant,p.Pro82Gln,ENST00000358139,NM_001258314.1;PDE1A,missense_variant,p.Pro116Gln,ENST00000410103,NM_001003683.2;PDE1A,non_coding_transcript_exon_variant,,ENST00000482538,;PDE1A,non_coding_transcript_exon_variant,,ENST00000495511,;PDE1A,non_coding_transcript_exon_variant,,ENST00000482782,;PDE1A,non_coding_transcript_exon_variant,,ENST00000462938,;	T	ENST00000435564	Transcript	missense_variant	548/4885	347/1638	116/545	P/Q	cCa/cAa		1		-1	PDE1A	HGNC	HGNC:8774	protein_coding	YES	CCDS2285.1	ENSP00000410309	P54750		UPI0000001072	NM_005019.4,NM_001258312.1	deleterious(0)		3/15		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF32,Pfam_domain:PF08499																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	182240161	182240161	G	T	1	0	0	0	0	1	0	0	0	11721	1348	47	2		2	PDE1A	2	182240161	Missense_Mutation	SNP	G	C3L-00080_TP	38705	182240161	59953368	123	2334											
PDE1A	0	.	GRCh38	chr2	182240200	182240200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtcatccccattttcCgtgtaaaggtagaagccaac	10	14	7	10	1	1	1	1	0	0	1	3	1	3	1	4	1	2	2	4	1	5	6	rs761155078		C3L-00080_TP	C3L-00080_NB	C	C																c.308G>A	p.Arg103Gln	p.R103Q	ENST00000435564	3/15	231	162	69	190	190	0	strelka-varscan-mutect	PDE1A,missense_variant,p.Arg103Gln,ENST00000435564,NM_005019.4,NM_001258312.1;PDE1A,missense_variant,p.Arg87Gln,ENST00000351439,NM_001258313.1;PDE1A,missense_variant,p.Arg87Gln,ENST00000409365,;PDE1A,missense_variant,p.Arg69Gln,ENST00000358139,NM_001258314.1;PDE1A,missense_variant,p.Arg103Gln,ENST00000410103,NM_001003683.2;PDE1A,non_coding_transcript_exon_variant,,ENST00000482538,;PDE1A,non_coding_transcript_exon_variant,,ENST00000495511,;PDE1A,non_coding_transcript_exon_variant,,ENST00000482782,;PDE1A,non_coding_transcript_exon_variant,,ENST00000462938,;	T	ENST00000435564	Transcript	missense_variant	509/4885	308/1638	103/545	R/Q	cGg/cAg	rs761155078,COSM3574967,COSM3574968,COSM3574969,COSM3574970,COSM3574971	1		-1	PDE1A	HGNC	HGNC:8774	protein_coding	YES	CCDS2285.1	ENSP00000410309	P54750		UPI0000001072	NM_005019.4,NM_001258312.1	tolerated(0.17)		3/15		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF32,Pfam_domain:PF08499											0,1,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1,1	1										PASS		rs761155078	.												T	3	4	7	182240200	182240200	C	T	1	0	0	0	0	1	0	0	0	11721	652	23	1		1	PDE1A	2	182240200	Missense_Mutation	SNP	C	C3L-00080_TP	39	182240200	59953329	124	2335											
ZNF804A	0	.	GRCh38	chr2	184938587	184938587	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccaaacatgctggccaacaAggttaaatttacctttcctc	12	11	6	12	0	0	0	0	0	0	0	2	0	1	0	4	2	4	2	4	2	6	4	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.3191A>T	p.Lys1064Met	p.K1064M	ENST00000302277	4/4	319	224	95	237	237	0	strelka-varscan-mutect	ZNF804A,missense_variant,p.Lys1064Met,ENST00000302277,NM_194250.1;ZNF804A,missense_variant,p.Lys979Met,ENST00000613975,;	T	ENST00000302277	Transcript	missense_variant	3785/4690	3191/3630	1064/1209	K/M	aAg/aTg		1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1	deleterious(0.04)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	184938587	184938587	A	T	1	0	0	0	0	1	0	0	0	18755	72	3	4		4	ZNF804A	2	184938587	Missense_Mutation	SNP	A	C3L-00080_TP	2698387	184938587	57254942	125	2336											
FSIP2	0	.	GRCh38	chr2	185796791	185796791	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctctgtagaagacacagttAaaaactcagagccaacgaaa	18	6	7	10	1	2	3	1	0	1	3	2	4	2	3	2	0	3	2	2	0	7	2	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.9922A>T	p.Lys3308Ter	p.K3308*	ENST00000343098	16/23	96	79	17	109	109	0	strelka-varscan-mutect	FSIP2,stop_gained,p.Lys3308Ter,ENST00000343098,NM_173651.2;FSIP2,stop_gained,p.Lys3219Ter,ENST00000424728,;FSIP2-AS1,intron_variant,,ENST00000436557,;FSIP2-AS1,intron_variant,,ENST00000429929,;FSIP2,stop_gained,p.Lys726Ter,ENST00000415915,;	T	ENST00000343098	Transcript	stop_gained	9922/21054	9922/20991	3308/6996	K/*	Aaa/Taa		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2			16/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	HIGH		SNV	5			1										PASS		.	.												T	4	4	7	185796791	185796791	A	T	1	0	0	0	0	0	1	0	0	5949	363	13	4		4	FSIP2	2	185796791	Nonsense_Mutation	SNP	A	C3L-00080_TP	858204	185796791	56396738	126	2337											
FSIP2	0	.	GRCh38	chr2	185813879	185813879	+	Missense_Mutation	SNP	C	C	A																															actaagtaaatgttgtcagaCcacagccagtgcaaatattg																								novel		C3L-00080_TP	C3L-00080_NB	C	C																c.20429C>A	p.Thr6810Asn	p.T6810N	ENST00000343098	18/23	257	199	58	296	296	0	strelka-varscan-mutect	FSIP2,missense_variant,p.Thr6810Asn,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Thr6721Asn,ENST00000424728,;FSIP2,3_prime_UTR_variant,,ENST00000611759,;FSIP2,3_prime_UTR_variant,,ENST00000415915,;	A	ENST00000343098	Transcript	missense_variant	20429/21054	20429/20991	6810/6996	T/N	aCc/aAc		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	tolerated(0.07)		18/23		Pfam_domain:PF15783,hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	7	185813879	185813879	C	A	1	0	0	0	0	1	0	0	0	5949	507	18	2		2	FSIP2	2	185813879	Missense_Mutation	SNP	C	C3L-00080_TP	17088	185813879	56379650	127	2338	54	2									
FSIP2	0	.	GRCh38	chr2	185813880	185813880	+	Silent	SNP	C	C	A																															ctaagtaaatgttgtcagacCacagccagtgcaaatattga																								novel		C3L-00080_TP	C3L-00080_NB	C	C																c.20430C>A	p.=	p.T6810T	ENST00000343098	18/23	260	199	61	299	299	0	strelka-varscan-mutect	FSIP2,synonymous_variant,p.=,ENST00000343098,NM_173651.2;FSIP2,synonymous_variant,p.=,ENST00000424728,;FSIP2,3_prime_UTR_variant,,ENST00000611759,;FSIP2,3_prime_UTR_variant,,ENST00000415915,;	A	ENST00000343098	Transcript	synonymous_variant	20430/21054	20430/20991	6810/6996	T	acC/acA		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2			18/23		Pfam_domain:PF15783,hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	7	185813880	185813880	C	A	1	0	0	0	0	0	0	0	1	5949	581	21	2		2	FSIP2	2	185813880	Silent	SNP	C	C3L-00080_TP	1	185813880	56379649	128	2339	54	2									
SATB2	0	.	GRCh38	chr2	199349084	199349084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcgttggttttccccaGggatgccagctggttcatat	5	15	11	10	1	1	0	1	0	0	0	3	1	2	1	3	3	2	5	3	3	1	6	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.790C>A	p.Leu264Met	p.L264M	ENST00000417098	7/11	197	169	28	186	186	0	strelka-varscan-mutect	SATB2,missense_variant,p.Leu205Met,ENST00000443023,;SATB2,missense_variant,p.Leu264Met,ENST00000417098,NM_001172509.1;SATB2,missense_variant,p.Leu264Met,ENST00000260926,NM_001172517.1;SATB2,missense_variant,p.Leu146Met,ENST00000614512,;SATB2,missense_variant,p.Leu264Met,ENST00000457245,NM_015265.3;SATB2,missense_variant,p.Leu146Met,ENST00000428695,;SATB2,non_coding_transcript_exon_variant,,ENST00000483346,;	T	ENST00000417098	Transcript	missense_variant	1607/5730	790/2202	264/733	L/M	Ctg/Atg		1		-1	SATB2	HGNC	HGNC:21637	protein_coding	YES	CCDS2327.1	ENSP00000401112	Q9UPW6	A0A024R3U6	UPI00000336B1	NM_001172509.1	tolerated(0.26)		7/11		hmmpanther:PTHR15116:SF15,hmmpanther:PTHR15116																	MODERATE	1	SNV	2			1										PASS		rs1316738790	.												T	3	4	7	199349084	199349084	G	T	1	0	0	0	0	1	0	0	0	14115	991	35	2		2	SATB2	2	199349084	Missense_Mutation	SNP	G	C3L-00080_TP	13535204	199349084	42844445	129	2340											
UNC80	0	.	GRCh38	chr2	209816965	209816965	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattccattccaccacacAggcaagaggaggccacggag	12	5	10	14	1	0	1	0	0	0	1	3	3	3	3	5	4	0	1	5	4	1	2	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.1392A>T	p.=	p.T464T	ENST00000439458	10/64	345	318	27	287	287	0	strelka-varscan	UNC80,synonymous_variant,p.=,ENST00000439458,NM_032504.1;UNC80,synonymous_variant,p.=,ENST00000272845,NM_182587.3;	T	ENST00000439458	Transcript	synonymous_variant	1472/13562	1392/9777	464/3258	T	acA/acT		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1			10/64		hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	7	209816965	209816965	A	T	1	0	0	0	0	0	0	0	1	17521	175	7	4		4	UNC80	2	209816965	Silent	SNP	A	C3L-00080_TP	10467881	209816965	32376564	130	2341											
ERBB4	0	.	GRCh38	chr2	211665407	211665407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aactgtttgccccctgtaagCcatctggacatttttccaca	9	13	6	13	0	1	0	0	0	1	0	2	1	2	1	4	1	3	2	4	1	2	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1787G>T	p.Gly596Val	p.G596V	ENST00000342788	15/28	600	430	170	513	512	1	strelka-varscan-mutect	ERBB4,missense_variant,p.Gly596Val,ENST00000342788,NM_005235.2;ERBB4,missense_variant,p.Gly596Val,ENST00000436443,NM_001042599.1;ERBB4,missense_variant,p.Gly570Val,ENST00000402597,;ERBB4,missense_variant,p.Gly596Val,ENST00000260943,;ERBB4,upstream_gene_variant,,ENST00000463121,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;	A	ENST00000342788	Transcript	missense_variant	2098/12136	1787/3927	596/1308	G/V	gGc/gTc		1		-1	ERBB4	HGNC	HGNC:3432	protein_coding	YES	CCDS2394.1	ENSP00000342235	Q15303		UPI00000499DF	NM_005235.2	deleterious(0)		15/28		hmmpanther:PTHR24416:SF90,hmmpanther:PTHR24416,Pfam_domain:PF14843,PIRSF_domain:PIRSF000619,Gene3D:2.10.220.10,SMART_domains:SM00261,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	211665407	211665407	C	A	1	0	0	0	0	1	0	0	0	5057	739	26	2		2	ERBB4	2	211665407	Missense_Mutation	SNP	C	C3L-00080_TP	1848442	211665407	30528122	131	2342											
FN1	0	.	GRCh38	chr2	215372258	215372258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggaagctgaataccatttCcagtgtcatacccagggtgg	11	9	11	10	0	1	1	1	1	0	0	2	2	2	2	3	3	3	1	3	3	4	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.6365G>T	p.Gly2122Val	p.G2122V	ENST00000354785	40/46	476	353	123	421	421	0	strelka-varscan-mutect	FN1,missense_variant,p.Gly2122Val,ENST00000354785,NM_212482.1;FN1,missense_variant,p.Gly2122Val,ENST00000323926,NM_001306129.1;FN1,missense_variant,p.Gly2031Val,ENST00000359671,;FN1,missense_variant,p.Gly2031Val,ENST00000336916,NM_002026.2;FN1,missense_variant,p.Gly1916Val,ENST00000421182,NM_001306132.1;FN1,missense_variant,p.Gly2006Val,ENST00000446046,NM_212478.1;FN1,missense_variant,p.Gly1941Val,ENST00000356005,NM_212476.1;FN1,missense_variant,p.Gly1941Val,ENST00000443816,NM_001306131.1;FN1,missense_variant,p.Gly748Val,ENST00000456923,;FN1,missense_variant,p.Gly125Val,ENST00000438981,;FN1,intron_variant,,ENST00000357867,NM_212474.1;FN1,intron_variant,,ENST00000432072,NM_001306130.1;FN1,non_coding_transcript_exon_variant,,ENST00000492816,;FN1,non_coding_transcript_exon_variant,,ENST00000460217,;FN1,non_coding_transcript_exon_variant,,ENST00000485567,;FN1,non_coding_transcript_exon_variant,,ENST00000461974,;FN1,downstream_gene_variant,,ENST00000474036,;FN1,upstream_gene_variant,,ENST00000480024,;	A	ENST00000354785	Transcript	missense_variant	6735/8905	6365/7434	2122/2477	G/V	gGa/gTa		1		-1	FN1	HGNC	HGNC:3778	protein_coding	YES	CCDS42814.1	ENSP00000346839	P02751		UPI0000E5A2B5	NM_212482.1	tolerated(0.09)		40/46																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	215372258	215372258	C	A	1	0	0	0	0	1	0	0	0	5818	855	30	2		2	FN1	2	215372258	Missense_Mutation	SNP	C	C3L-00080_TP	3706851	215372258	26821271	132	2343											
ATG9A	0	.	GRCh38	chr2	219223998	219223998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctcagggcagaacacCatgtgctggtccgggataaa	11	7	13	10	1	1	1	1	0	0	1	2	2	2	2	2	3	4	4	2	3	3	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1290G>T	p.Met430Ile	p.M430I	ENST00000409618	9/16	126	83	43	102	102	0	strelka-mutect	ATG9A,missense_variant,p.Met430Ile,ENST00000409618,;ATG9A,missense_variant,p.Met430Ile,ENST00000396761,NM_024085.4;ATG9A,missense_variant,p.Met430Ile,ENST00000361242,NM_001077198.2;ATG9A,missense_variant,p.Met369Ile,ENST00000409422,;ATG9A,downstream_gene_variant,,ENST00000436856,;ATG9A,downstream_gene_variant,,ENST00000432520,;ATG9A,upstream_gene_variant,,ENST00000429920,;ATG9A,downstream_gene_variant,,ENST00000428226,;ATG9A,downstream_gene_variant,,ENST00000457841,;ATG9A,downstream_gene_variant,,ENST00000443140,;ATG9A,downstream_gene_variant,,ENST00000439812,;ATG9A,downstream_gene_variant,,ENST00000431715,;ATG9A,downstream_gene_variant,,ENST00000434939,;ATG9A,downstream_gene_variant,,ENST00000455079,;ATG9A,downstream_gene_variant,,ENST00000488833,;ATG9A,missense_variant,p.Met430Ile,ENST00000409033,;ATG9A,upstream_gene_variant,,ENST00000446716,;ATG9A,upstream_gene_variant,,ENST00000475339,;ATG9A,downstream_gene_variant,,ENST00000466217,;ATG9A,downstream_gene_variant,,ENST00000486766,;ATG9A,downstream_gene_variant,,ENST00000456708,;ATG9A,downstream_gene_variant,,ENST00000412355,;	A	ENST00000409618	Transcript	missense_variant	1730/4025	1290/2520	430/839	M/I	atG/atT		1		-1	ATG9A	HGNC	HGNC:22408	protein_coding	YES	CCDS42820.1	ENSP00000386710	Q7Z3C6	A0A024R438	UPI0000209615		tolerated(0.06)		9/16		hmmpanther:PTHR13038,hmmpanther:PTHR13038:SF13,Pfam_domain:PF04109																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	7	219223998	219223998	C	A	1	0	0	0	0	1	0	0	0	1254	594	21	2		2	ATG9A	2	219223998	Missense_Mutation	SNP	C	C3L-00080_TP	3851740	219223998	22969531	133	2344											
SPEG	0	.	GRCh38	chr2	219488245	219488245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaccaggtgctgctggaggGggaggcagccaccctgctct	6	6	17	12	0	1	0	0	0	1	0	1	3	1	3	3	6	4	4	3	6	0	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.7793G>A	p.Gly2598Glu	p.G2598E	ENST00000312358	32/41	186	136	50	147	146	1	strelka-varscan-mutect	SPEG,missense_variant,p.Gly2598Glu,ENST00000312358,NM_005876.4;SPEG,upstream_gene_variant,,ENST00000412982,;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	A	ENST00000312358	Transcript	missense_variant	7925/10782	7793/9804	2598/3267	G/E	gGg/gAg		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	deleterious(0)		32/41		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF728,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	7	219488245	219488245	G	A	1	0	0	0	0	1	0	0	0	15387	1232	43	3		3	SPEG	2	219488245	Missense_Mutation	SNP	G	C3L-00080_TP	264247	219488245	22705284	134	2345											
OBSL1	0	.	GRCh38	chr2	219566889	219566889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctgaagccgaccagggcaCcgctgtcctggtgcttgacg	7	7	14	13	3	0	2	0	2	0	0	1	3	1	2	4	2	3	4	4	2	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2075G>T	p.Gly692Val	p.G692V	ENST00000404537	5/21	110	72	38	93	93	0	strelka-varscan-mutect	OBSL1,missense_variant,p.Gly692Val,ENST00000404537,NM_015311.2;OBSL1,missense_variant,p.Gly692Val,ENST00000603926,NM_001173431.1;OBSL1,missense_variant,p.Gly692Val,ENST00000373876,;OBSL1,missense_variant,p.Gly692Val,ENST00000373873,NM_001173408.1;OBSL1,missense_variant,p.Gly279Val,ENST00000289656,;OBSL1,upstream_gene_variant,,ENST00000604031,;INHA,upstream_gene_variant,,ENST00000489456,;OBSL1,downstream_gene_variant,,ENST00000491370,;OBSL1,downstream_gene_variant,,ENST00000465589,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,upstream_gene_variant,,ENST00000462385,;	A	ENST00000404537	Transcript	missense_variant	2132/5841	2075/5691	692/1896	G/V	gGt/gTt		1		-1	OBSL1	HGNC	HGNC:29092	protein_coding	YES	CCDS46520.1	ENSP00000385636	O75147		UPI0000E07EA0	NM_015311.2	deleterious(0)		5/21		hmmpanther:PTHR13817,Gene3D:2.60.40.10,SMART_domains:SM00409																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	219566889	219566889	C	A	1	0	0	0	0	1	0	0	0	10890	507	18	2		2	OBSL1	2	219566889	Missense_Mutation	SNP	C	C3L-00080_TP	78644	219566889	22626640	135	2346											
EPHA4	0	.	GRCh38	chr2	221434142	221434142	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaacatagagacttacAtcttgattggacatatccca	14	12	6	9	0	2	3	1	1	1	2	3	5	3	4	1	1	2	0	1	1	4	6	rs749973188		C3L-00080_TP	C3L-00080_NB	A	A																c.2496T>A	p.Asp832Glu	p.D832E	ENST00000281821	14/18	86	71	15	74	74	0	strelka-varscan-mutect	EPHA4,missense_variant,p.Asp832Glu,ENST00000281821,NM_001304536.1,NM_001304537.1,NM_004438.4;EPHA4,missense_variant,p.Asp832Glu,ENST00000409854,;EPHA4,missense_variant,p.Asp832Glu,ENST00000409938,;EPHA4,missense_variant,p.Asp36Glu,ENST00000424339,;EPHA4,downstream_gene_variant,,ENST00000495693,;	T	ENST00000281821	Transcript	missense_variant,splice_region_variant	2538/6346	2496/2961	832/986	D/E	gaT/gaA	rs749973188	1		-1	EPHA4	HGNC	HGNC:3388	protein_coding	YES	CCDS2447.1	ENSP00000281821	P54764	A0A024R452	UPI000012A077	NM_001304536.1,NM_001304537.1,NM_004438.4	tolerated(0.12)		14/18		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF337,hmmpanther:PTHR24416,Pfam_domain:PF07714,PIRSF_domain:PIRSF000666,Gene3D:1.10.510.10,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs749973188	.												T	3	4	7	221434142	221434142	A	T	1	0	0	0	0	1	0	0	0	5016	231	8	4		4	EPHA4	2	221434142	Missense_Mutation	SNP	A	C3L-00080_TP	1867253	221434142	20759387	136	2347											
EPHA4	0	.	GRCh38	chr2	221564236	221564236	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccggaagactattgcagtcCctcaaggtgaatttaatctc	11	11	8	11	1	2	2	1	1	1	1	4	3	3	3	2	2	1	1	2	2	5	4			C3L-00080_TP	C3L-00080_NB	C	C																c.318G>T	p.Arg106Ser	p.R106S	ENST00000281821	3/18	251	210	41	195	195	0	strelka-varscan-mutect	EPHA4,missense_variant,p.Arg106Ser,ENST00000281821,NM_001304536.1,NM_001304537.1,NM_004438.4;EPHA4,missense_variant,p.Arg106Ser,ENST00000409854,;EPHA4,missense_variant,p.Arg106Ser,ENST00000409938,;EPHA4,missense_variant,p.Arg106Ser,ENST00000541600,;EPHA4,missense_variant,p.Arg47Ser,ENST00000419964,;EPHA4,intron_variant,,ENST00000443796,;EPHA4,downstream_gene_variant,,ENST00000434266,;EPHA4,3_prime_UTR_variant,,ENST00000415749,;	A	ENST00000281821	Transcript	missense_variant	360/6346	318/2961	106/986	R/S	agG/agT	COSM4799084,COSM4799085	1		-1	EPHA4	HGNC	HGNC:3388	protein_coding	YES	CCDS2447.1	ENSP00000281821	P54764	A0A024R452	UPI000012A077	NM_001304536.1,NM_001304537.1,NM_004438.4	deleterious(0)		3/18		PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF337,hmmpanther:PTHR24416,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,Gene3D:2.60.120.260,SMART_domains:SM00615,Superfamily_domains:SSF49785											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	7	221564236	221564236	C	A	1	0	0	0	0	1	0	0	0	5016	622	22	2		2	EPHA4	2	221564236	Missense_Mutation	SNP	C	C3L-00080_TP	130094	221564236	20629293	137	2348											
SPHKAP	0	.	GRCh38	chr2	228018204	228018204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagttgtacttttcttGggtgtttgggtggatactct	5	17	13	6	0	2	0	0	0	2	0	2	1	2	1	0	4	2	4	0	4	2	7	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2650C>A	p.Gln884Lys	p.Q884K	ENST00000392056	7/12	179	111	68	152	152	0	strelka-varscan-mutect	SPHKAP,missense_variant,p.Gln884Lys,ENST00000392056,NM_001142644.1;SPHKAP,missense_variant,p.Gln884Lys,ENST00000344657,NM_030623.3;	T	ENST00000392056	Transcript	missense_variant	2697/6917	2650/5103	884/1700	Q/K	Caa/Aaa		1		-1	SPHKAP	HGNC	HGNC:30619	protein_coding	YES	CCDS46537.1	ENSP00000375909	Q2M3C7		UPI0000411D7E	NM_001142644.1	deleterious(0.04)		7/12		hmmpanther:PTHR10226:SF7,hmmpanther:PTHR10226																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	228018204	228018204	G	T	1	0	0	0	0	1	0	0	0	15399	1357	47	2		2	SPHKAP	2	228018204	Missense_Mutation	SNP	G	C3L-00080_TP	6453968	228018204	14175325	138	2349											
PTMA	0	.	GRCh38	chr2	231711923	231711923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagcaggaggctgacaatGaggtagacgaagaagaggaa	16	3	18	4	1	0	5	0	2	0	3	0	9	0	8	0	5	1	3	0	5	5	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.154G>A	p.Glu52Lys	p.E52K	ENST00000341369	3/5	245	161	84	177	177	0	strelka-varscan-mutect	PTMA,missense_variant,p.Glu51Lys,ENST00000409115,NM_002823.4;PTMA,missense_variant,p.Glu52Lys,ENST00000341369,NM_001099285.1;PTMA,missense_variant,p.Glu51Lys,ENST00000409683,;PTMA,missense_variant,p.Glu89Lys,ENST00000412128,;PTMA,missense_variant,p.Glu77Lys,ENST00000410064,;PTMA,missense_variant,p.Glu72Lys,ENST00000409321,;PTMA,downstream_gene_variant,,ENST00000440384,;U4,downstream_gene_variant,,ENST00000617137,;PTMA,upstream_gene_variant,,ENST00000612829,;PTMA,non_coding_transcript_exon_variant,,ENST00000466801,;PTMA,3_prime_UTR_variant,,ENST00000448874,;PTMA,non_coding_transcript_exon_variant,,ENST00000481928,;PTMA,non_coding_transcript_exon_variant,,ENST00000468027,;PTMA,non_coding_transcript_exon_variant,,ENST00000467816,;	A	ENST00000341369	Transcript	missense_variant	345/1212	154/336	52/111	E/K	Gag/Aag		1		1	PTMA	HGNC	HGNC:9623	protein_coding	YES	CCDS42833.1	ENSP00000344547	P06454		UPI0000047512	NM_001099285.1	tolerated(0.14)		3/5		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22745,Pfam_domain:PF03247																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	231711923	231711923	G	A	1	0	0	0	0	1	0	0	0	12922	1291	45	3		3	PTMA	2	231711923	Missense_Mutation	SNP	G	C3L-00080_TP	3693719	231711923	10481606	139	2350											
UGT1A7	0	.	GRCh38	chr2	233682564	233682564	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcaaggagagagtatggaaCcacatcatgcacttggagga	14	8	12	7	0	2	1	2	0	0	1	2	6	2	5	1	4	2	2	1	4	3	3	rs780627101		C3L-00080_TP	C3L-00080_NB	C	C																c.627C>G	p.Asn209Lys	p.N209K	ENST00000373426	1/5	538	418	120	505	505	0	strelka-varscan-mutect	UGT1A7,missense_variant,p.Asn209Lys,ENST00000373426,NM_019077.2;UGT1A7,missense_variant,p.Asn66Lys,ENST00000485022,;UGT1A9,intron_variant,,ENST00000354728,NM_021027.2;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A10,intron_variant,,ENST00000373445,;	G	ENST00000373426	Transcript	missense_variant	627/2333	627/1593	209/530	N/K	aaC/aaG	rs780627101	1		1	UGT1A7	HGNC	HGNC:12539	protein_coding	YES	CCDS2506.1	ENSP00000362525	Q9HAW7	Q5DSZ7	UPI000013EA12	NM_019077.2	deleterious(0.01)		1/5		hmmpanther:PTHR11926:SF405,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		rs780627101	.												G	3	3	7	233682564	233682564	C	G	1	0	0	0	0	1	0	0	0	17475	506	18	4		4	UGT1A7	2	233682564	Missense_Mutation	SNP	C	C3L-00080_TP	1970641	233682564	8510965	140	2351											
OR6B2	0	.	GRCh38	chr2	240030259	240030259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagaaagtagtacatgggCctgtggagggaggtgctgct	9	9	16	7	0	1	1	1	0	0	1	1	3	1	3	1	4	3	4	1	4	3	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.171G>T	p.Arg57Ser	p.R57S	ENST00000402971	1/1	409	359	50	294	294	0	varscan-mutect	OR6B2,missense_variant,p.Arg57Ser,ENST00000402971,NM_001005853.1;NDUFA10,upstream_gene_variant,,ENST00000252711,NM_004544.3;NDUFA10,upstream_gene_variant,,ENST00000404554,;NDUFA10,upstream_gene_variant,,ENST00000620965,;NDUFA10,upstream_gene_variant,,ENST00000307300,;NDUFA10,upstream_gene_variant,,ENST00000443626,;NDUFA10,upstream_gene_variant,,ENST00000407129,;NDUFA10,upstream_gene_variant,,ENST00000485344,;NDUFA10,upstream_gene_variant,,ENST00000497536,;NDUFA10,upstream_gene_variant,,ENST00000414580,;	A	ENST00000402971	Transcript	missense_variant	198/1492	171/939	57/312	R/S	agG/agT		1		-1	OR6B2	HGNC	HGNC:15041	protein_coding	YES	CCDS46559.1	ENSP00000384563	Q6IFH4		UPI0000061EBF	NM_001005853.1	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF313,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												A	3	1	7	240030259	240030259	C	A	1	0	0	0	0	1	0	0	0	11256	738	26	2		2	OR6B2	2	240030259	Missense_Mutation	SNP	C	C3L-00080_TP	6347695	240030259	2163270	141	2352											
OR6B3	0	.	GRCh38	chr2	240045902	240045902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagaaagtagtacatgggCctgtggagggaggtgctgct	9	9	16	7	0	1	1	1	0	0	1	1	3	1	3	1	4	3	4	1	4	3	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.171G>T	p.Arg57Ser	p.R57S	ENST00000319423	1/1	261	221	40	209	207	2	strelka-varscan-mutect	OR6B3,missense_variant,p.Arg57Ser,ENST00000319423,NM_173351.1;PRR21,upstream_gene_variant,,ENST00000408934,NM_001080835.1;	A	ENST00000319423	Transcript	missense_variant	171/996	171/996	57/331	R/S	agG/agT		1		-1	OR6B3	HGNC	HGNC:15042	protein_coding	YES	CCDS42837.1	ENSP00000322435	Q8NGW1		UPI0000061EBE	NM_173351.1	deleterious(0.05)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF313,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	7	240045902	240045902	C	A	1	0	0	0	0	1	0	0	0	11257	738	26	2		2	OR6B3	2	240045902	Missense_Mutation	SNP	C	C3L-00080_TP	15643	240045902	2147627	142	2353											
SNED1	0	.	GRCh38	chr2	241030525	241030525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccacctgggtttttgttgCcacctggtaccgagtgacct	5	13	11	12	1	0	1	0	1	0	0	0	2	0	1	6	2	3	3	6	2	1	4	rs749953659		C3L-00080_TP	C3L-00080_NB	C	C																c.455C>T	p.Ala152Val	p.A152V	ENST00000310397	2/32	217	155	62	183	183	0	strelka-varscan-mutect	SNED1,missense_variant,p.Ala152Val,ENST00000310397,NM_001080437.1;SNED1,missense_variant,p.Ala152Val,ENST00000405547,;SNED1,missense_variant,p.Ala152Val,ENST00000401884,;AC005237.4,intron_variant,,ENST00000458377,;	T	ENST00000310397	Transcript	missense_variant	455/8174	455/4242	152/1413	A/V	gCc/gTc	rs749953659	1		1	SNED1	HGNC	HGNC:24696	protein_coding	YES	CCDS46562.1	ENSP00000308893	Q8TER0		UPI0000DD7AB0	NM_001080437.1	deleterious(0.05)		2/32		PROSITE_profiles:PS51220,SMART_domains:SM00539																	MODERATE		SNV	5			1										PASS		rs749953659	.												T	3	4	7	241030525	241030525	C	T	1	0	0	0	0	1	0	0	0	15166	739	26	3		3	SNED1	2	241030525	Missense_Mutation	SNP	C	C3L-00080_TP	984623	241030525	1163004	143	2354											
ANO7	0	.	GRCh38	chr2	241199393	241199393	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgctctgctactacgcCgaagacctgcgcctgaagct	7	9	11	14	3	1	2	0	1	1	1	1	3	1	2	3	0	6	4	3	0	4	2	rs752923367		C3L-00080_TP	C3L-00080_NB	C	C																c.549C>A	p.=	p.A183A	ENST00000274979	5/25	328	232	96	257	257	0	strelka-varscan-mutect	ANO7,synonymous_variant,p.=,ENST00000274979,NM_001001891.3;ANO7,synonymous_variant,p.=,ENST00000402430,;ANO7,downstream_gene_variant,,ENST00000402530,NM_001001666.3;ANO7,non_coding_transcript_exon_variant,,ENST00000475532,;	A	ENST00000274979	Transcript	synonymous_variant	652/4128	549/2802	183/933	A	gcC/gcA	rs752923367	1		1	ANO7	HGNC	HGNC:31677	protein_coding	YES	CCDS33423.1	ENSP00000274979	Q6IWH7		UPI0000D612DB	NM_001001891.3			5/25		hmmpanther:PTHR12308:SF22,hmmpanther:PTHR12308,Pfam_domain:PF16178																	LOW	1	SNV	1			1										PASS		rs752923367	.												A	2	1	7	241199393	241199393	C	A	1	0	0	0	0	0	0	0	1	809	639	23	1		1	ANO7	2	241199393	Silent	SNP	C	C3L-00080_TP	168868	241199393	994136	144	2355											
CNTN6	0	.	GRCh38	chr3	1382968	1382968	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagaagaactgcagaatggGgagggatttggatatatcat	14	9	13	5	0	1	3	1	0	0	3	1	6	1	6	1	4	2	1	1	4	5	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2193G>T	p.=	p.G731G	ENST00000446702	18/23	147	92	55	164	164	0	strelka-varscan-mutect	CNTN6,synonymous_variant,p.=,ENST00000446702,;CNTN6,synonymous_variant,p.=,ENST00000350110,NM_014461.3,NM_001289080.1,NM_001289081.1;CNTN6,3_prime_UTR_variant,,ENST00000397479,;	T	ENST00000446702	Transcript	synonymous_variant	2820/4513	2193/3087	731/1028	G	ggG/ggT		1		1	CNTN6	HGNC	HGNC:2176	protein_coding	YES	CCDS2557.1	ENSP00000407822	Q9UQ52	A0A024R2C7	UPI0000072430				18/23		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF52,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	1382968	1382968	G	T	1	0	0	0	0	0	0	0	1	3426	1219	43	2		2	CNTN6	3	1382968	Silent	SNP	G	C3L-00080_TP		1382968	196912591	145	2356											
SSUH2	0	.	GRCh38	chr3	8619923	8619923	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagtccaccgcatacaccTggtggtcagtgccatagatg	10	9	11	11	1	1	1	1	0	0	1	2	2	2	1	4	2	2	1	4	2	3	3	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.1073A>T	p.Gln358Leu	p.Q358L	ENST00000544814	12/12	132	80	52	123	123	0	strelka-varscan-mutect	SSUH2,missense_variant,p.Gln336Leu,ENST00000317371,;SSUH2,missense_variant,p.Gln336Leu,ENST00000341795,NM_015931.2,NM_001256749.1;SSUH2,missense_variant,p.Gln358Leu,ENST00000544814,NM_001256748.1;SSUH2,3_prime_UTR_variant,,ENST00000455157,;SSUH2,3_prime_UTR_variant,,ENST00000435138,;SSUH2,3_prime_UTR_variant,,ENST00000413305,;SSUH2,3_prime_UTR_variant,,ENST00000415132,;SSUH2,3_prime_UTR_variant,,ENST00000420394,;SSUH2,non_coding_transcript_exon_variant,,ENST00000495366,;	A	ENST00000544814	Transcript	missense_variant	1113/1636	1073/1128	358/375	Q/L	cAg/cTg		1		-1	SSUH2	HGNC	HGNC:24809	protein_coding	YES	CCDS58815.1	ENSP00000439378	Q9Y2M2		UPI000206527B	NM_001256748.1	deleterious(0.01)		12/12		hmmpanther:PTHR15852,hmmpanther:PTHR15852:SF7																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	7	8619923	8619923	T	A	1	0	0	0	0	1	0	0	0	15580	1580	55	4		4	SSUH2	3	8619923	Missense_Mutation	SNP	T	C3L-00080_TP	7236955	8619923	189675636	146	2357											
MTMR14	0	.	GRCh38	chr3	9672709	9672709	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcctctgagaaggtggaCaaagcccagcgctatgccga	11	6	11	13	2	1	1	0	1	1	1	2	4	2	2	4	2	3	1	4	2	3	1	rs767978492		C3L-00080_TP	C3L-00080_NB	C	C																c.702C>G	p.Asp234Glu	p.D234E	ENST00000296003	7/19	325	262	63	366	366	0	strelka-varscan-mutect	MTMR14,missense_variant,p.Asp234Glu,ENST00000296003,NM_001077525.2;MTMR14,missense_variant,p.Asp234Glu,ENST00000353332,NM_001077526.2;MTMR14,missense_variant,p.Asp234Glu,ENST00000351233,NM_022485.4;MTMR14,intron_variant,,ENST00000420925,;MTMR14,upstream_gene_variant,,ENST00000431250,;MTMR14,missense_variant,p.Asp152Glu,ENST00000447144,;MTMR14,3_prime_UTR_variant,,ENST00000414996,;MTMR14,3_prime_UTR_variant,,ENST00000430020,;MTMR14,3_prime_UTR_variant,,ENST00000416864,;MTMR14,3_prime_UTR_variant,,ENST00000449543,;MTMR14,downstream_gene_variant,,ENST00000437997,;	G	ENST00000296003	Transcript	missense_variant	824/2494	702/1953	234/650	D/E	gaC/gaG	rs767978492	1		1	MTMR14	HGNC	HGNC:26190	protein_coding	YES	CCDS43043.1	ENSP00000296003	Q8NCE2		UPI000007423D	NM_001077525.2	deleterious(0)		7/19		Gene3D:3.90.190.10,hmmpanther:PTHR13524,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		rs767978492	.												G	3	3	7	9672709	9672709	C	G	1	0	0	0	0	1	0	0	0	9930	477	17	4		4	MTMR14	3	9672709	Missense_Mutation	SNP	C	C3L-00080_TP	1052786	9672709	188622850	147	2358											
ZNF385D	0	.	GRCh38	chr3	21437121	21437121	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcttttttccactttagaGgtgatctcagttgtcataac	8	16	9	8	0	2	2	2	1	1	1	4	2	3	2	1	2	1	2	1	2	2	7	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.522C>A	p.=	p.T174T	ENST00000281523	5/8	222	121	101	269	268	1	strelka-varscan-mutect	ZNF385D,synonymous_variant,p.=,ENST00000281523,NM_024697.2;ZNF385D,non_coding_transcript_exon_variant,,ENST00000494118,;ZNF385D,non_coding_transcript_exon_variant,,ENST00000495739,;ZNF385D,3_prime_UTR_variant,,ENST00000446749,;	T	ENST00000281523	Transcript	synonymous_variant	1041/10699	522/1188	174/395	T	acC/acA		1		-1	ZNF385D	HGNC	HGNC:26191	protein_coding	YES	CCDS2636.1	ENSP00000281523	Q9H6B1		UPI00000724AC	NM_024697.2			5/8		hmmpanther:PTHR23067:SF12,hmmpanther:PTHR23067																	LOW	1	SNV	1			1										PASS		rs1453615634	.												T	2	4	7	21437121	21437121	G	T	1	0	0	0	0	0	0	0	1	18451	987	35	2		2	ZNF385D	3	21437121	Silent	SNP	G	C3L-00080_TP	11764412	21437121	176858438	148	2359											
ZNF385D	0	.	GRCh38	chr3	21564630	21564630	+	Frame_Shift_Del	DEL	G	G	-																															tatgatttgctttcttcggtGgggaagaggaaccccgaatg																										C3L-00080_TP	C3L-00080_NB	G	G																c.220delC	p.His74ThrfsTer14	p.H74Tfs*14	ENST00000281523	3/8	83	40	43	109	108	1	sindel-varindel-pindel	ZNF385D,frameshift_variant,p.His74ThrfsTer14,ENST00000281523,NM_024697.2;ZNF385D-AS1,intron_variant,,ENST00000412369,;ZNF385D,non_coding_transcript_exon_variant,,ENST00000494118,;ZNF385D,non_coding_transcript_exon_variant,,ENST00000494108,;ZNF385D,non_coding_transcript_exon_variant,,ENST00000478967,;ZNF385D,non_coding_transcript_exon_variant,,ENST00000469927,;ZNF385D,frameshift_variant,p.His74ThrfsTer14,ENST00000446749,;	-	ENST00000281523	Transcript	frameshift_variant	739/10699	220/1188	74/395	H/X	Cac/ac	COSM5672847	1		-1	ZNF385D	HGNC	HGNC:26191	protein_coding	YES	CCDS2636.1	ENSP00000281523	Q9H6B1		UPI00000724AC	NM_024697.2			3/8		hmmpanther:PTHR23067:SF12,hmmpanther:PTHR23067,Superfamily_domains:SSF57667											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	7	21564630	21564630	G	-	1	0	1	0	1	0	0	0	0	18451	1348	47	0		0	ZNF385D	3	21564630	Frame_Shift_Del	DEL	G	C3L-00080_TP	127509	21564630	176730929	149	2360											
TRANK1	0	.	GRCh38	chr3	36833904	36833904	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgggaagggtcttagtcttTagcatttcttcatacctgca	9	15	9	8	0	4	0	1	0	3	0	4	1	4	1	1	2	3	2	1	2	4	6	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.5547A>G	p.=	p.L1849L	ENST00000429976	21/23	49	33	16	60	60	0	strelka-varscan-mutect	TRANK1,synonymous_variant,p.=,ENST00000429976,NM_014831.2;	C	ENST00000429976	Transcript	synonymous_variant	5795/10481	5547/8778	1849/2925	L	ctA/ctG		1		-1	TRANK1	HGNC	HGNC:29011	protein_coding	YES	CCDS46789.2	ENSP00000416168	O15050		UPI00017BE82B	NM_014831.2			21/23		hmmpanther:PTHR21529,hmmpanther:PTHR21529:SF4																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	7	36833904	36833904	T	C	1	0	0	0	0	0	0	0	1	16937	1741	61	5		5	TRANK1	3	36833904	Silent	SNP	T	C3L-00080_TP	15269274	36833904	161461655	150	2361											
ITGA9	0	.	GRCh38	chr3	37481523	37481523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacatctactatgaagccGaccacatcctaccccatggc	13	7	6	15	1	1	2	0	1	1	1	2	3	2	2	5	1	4	0	5	1	5	3	rs760915010		C3L-00080_TP	C3L-00080_NB	G	G																c.460G>T	p.Asp154Tyr	p.D154Y	ENST00000264741	4/28	593	318	275	659	659	0	strelka-varscan-mutect	ITGA9,missense_variant,p.Asp154Tyr,ENST00000264741,NM_002207.2;ITGA9,missense_variant,p.Asp154Tyr,ENST00000422441,;	T	ENST00000264741	Transcript	missense_variant	716/7889	460/3108	154/1035	D/Y	Gac/Tac	rs760915010,COSM1211005	1		1	ITGA9	HGNC	HGNC:6145	protein_coding	YES	CCDS2669.1	ENSP00000264741	Q13797		UPI00001AE8BB	NM_002207.2	deleterious(0)		4/28		PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF69,Gene3D:3nigC00,Superfamily_domains:SSF69318											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs760915010	.												T	3	4	7	37481523	37481523	G	T	1	0	0	0	0	1	0	0	0	7790	1058	37	1		1	ITGA9	3	37481523	Missense_Mutation	SNP	G	C3L-00080_TP	647619	37481523	160814036	151	2362											
SCN5A	0	.	GRCh38	chr3	38633125	38633125	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagatctggcagctttttGgaggcctgcaggtccagctg	7	11	14	9	0	1	1	0	0	1	1	2	3	2	2	2	4	3	4	2	4	1	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.183C>T	p.=	p.S61S	ENST00000413689	2/28	76	42	34	114	114	0	strelka-varscan-mutect	SCN5A,synonymous_variant,p.=,ENST00000413689,NM_001099404.1;SCN5A,synonymous_variant,p.=,ENST00000333535,NM_198056.2;SCN5A,synonymous_variant,p.=,ENST00000425664,NM_001099405.1;SCN5A,synonymous_variant,p.=,ENST00000423572,NM_000335.4;SCN5A,synonymous_variant,p.=,ENST00000451551,NM_001160161.1;SCN5A,synonymous_variant,p.=,ENST00000414099,;SCN5A,synonymous_variant,p.=,ENST00000455624,NM_001160160.1;SCN5A,synonymous_variant,p.=,ENST00000450102,;SCN5A,synonymous_variant,p.=,ENST00000449557,;SCN5A,synonymous_variant,p.=,ENST00000612060,;SCN5A,synonymous_variant,p.=,ENST00000327956,;SCN5A,non_coding_transcript_exon_variant,,ENST00000491944,;SCN5A,non_coding_transcript_exon_variant,,ENST00000476683,;	A	ENST00000413689	Transcript	synonymous_variant	377/8504	183/6051	61/2016	S	tcC/tcT		1		-1	SCN5A	HGNC	HGNC:10593	protein_coding	YES	CCDS46799.1	ENSP00000410257		H9KVD2	UPI0001572CC8	NM_001099404.1			2/28		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF206																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	7	38633125	38633125	G	A	1	0	0	0	0	0	0	0	1	14191	1335	47	3		3	SCN5A	3	38633125	Silent	SNP	G	C3L-00080_TP	1151602	38633125	159662434	152	2363											
ULK4	0	.	GRCh38	chr3	41663698	41663698	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctaaaagaatgtgctcatAcctgaaatggtaaagacatt	16	12	7	6	0	2	3	1	1	1	2	2	3	2	3	1	1	2	2	1	1	7	5	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.2980T>A	p.Tyr994Asn	p.Y994N	ENST00000301831	30/37	164	118	46	240	240	0	strelka-varscan-mutect	ULK4,missense_variant,p.Tyr994Asn,ENST00000301831,NM_017886.2;	T	ENST00000301831	Transcript	missense_variant,splice_region_variant	3443/4613	2980/3828	994/1275	Y/N	Tat/Aat		1		-1	ULK4	HGNC	HGNC:15784	protein_coding	YES	CCDS43071.1	ENSP00000301831	Q96C45		UPI0000E8267C	NM_017886.2	deleterious(0)		30/37		Gene3D:1.25.10.10,hmmpanther:PTHR22983,hmmpanther:PTHR22983:SF15,Superfamily_domains:SSF48371																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	7	41663698	41663698	A	T	1	0	0	0	0	1	0	0	0	17501	405	14	4		4	ULK4	3	41663698	Missense_Mutation	SNP	A	C3L-00080_TP	3030573	41663698	156631861	153	2364											
ZNF502	0	.	GRCh38	chr3	44721978	44721978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtaaagaatgtggcaaagcGtttactcagagcaccccact	13	9	9	10	1	1	2	1	0	0	2	1	2	1	2	2	1	3	4	2	1	5	3	rs149761315		C3L-00080_TP	C3L-00080_NB	G	G																c.1161G>A	p.=	p.A387A	ENST00000296091	4/4	179	151	28	232	232	0	strelka-varscan-mutect	ZNF502,synonymous_variant,p.=,ENST00000296091,NM_001134440.1,NM_001282880.1,NM_033210.4;ZNF502,synonymous_variant,p.=,ENST00000449836,NM_001134441.1,NM_001134442.1;ZNF502,synonymous_variant,p.=,ENST00000436624,;ZNF502,downstream_gene_variant,,ENST00000411443,;	A	ENST00000296091	Transcript	synonymous_variant	1417/3270	1161/1635	387/544	A	gcG/gcA	rs149761315,COSM5171160	1		1	ZNF502	HGNC	HGNC:23718	protein_coding	YES	CCDS2719.1	ENSP00000296091	Q8TBZ5	A0A024R2Z2	UPI0000072CFB	NM_001134440.1,NM_001282880.1,NM_033210.4			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF133,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1						LOW	1	SNV	1		0,1	1										PASS		rs149761315	.												A	2	1	7	44721978	44721978	G	A	1	0	0	0	0	0	0	0	1	18522	1132	40	1		1	ZNF502	3	44721978	Silent	SNP	G	C3L-00080_TP	3058280	44721978	153573581	154	2365											
ALS2CL	0	.	GRCh38	chr3	46671520	46671520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggaagtcatacaggcCtcctgtgtggttggggtcca	8	9	15	9	0	1	0	1	0	0	0	3	2	3	1	3	5	2	2	3	5	2	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2749G>A	p.Gly917Ser	p.G917S	ENST00000318962	25/26	147	103	44	208	208	0	strelka-varscan-mutect	ALS2CL,missense_variant,p.Gly917Ser,ENST00000318962,NM_147129.3;ALS2CL,missense_variant,p.Gly917Ser,ENST00000415953,NM_001190707.1;ALS2CL,missense_variant,p.Gly264Ser,ENST00000383742,NM_182775.2;ALS2CL,non_coding_transcript_exon_variant,,ENST00000473484,;ALS2CL,3_prime_UTR_variant,,ENST00000423707,;ALS2CL,3_prime_UTR_variant,,ENST00000434140,;ALS2CL,non_coding_transcript_exon_variant,,ENST00000450172,;ALS2CL,non_coding_transcript_exon_variant,,ENST00000431015,;ALS2CL,non_coding_transcript_exon_variant,,ENST00000486301,;ALS2CL,non_coding_transcript_exon_variant,,ENST00000498817,;	T	ENST00000318962	Transcript	missense_variant	2833/4741	2749/2862	917/953	G/S	Ggc/Agc		1		-1	ALS2CL	HGNC	HGNC:20605	protein_coding	YES	CCDS2743.1	ENSP00000313670	Q60I27	A0A024R2U1	UPI00001B5641	NM_147129.3	deleterious(0)		25/26		Superfamily_domains:0044157,Pfam_domain:PF02204,PROSITE_profiles:PS51205																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	46671520	46671520	C	T	1	0	0	0	0	1	0	0	0	651	681	24	3		3	ALS2CL	3	46671520	Missense_Mutation	SNP	C	C3L-00080_TP	1949542	46671520	151624039	155	2366											
GRM2	0	.	GRCh38	chr3	51712714	51712714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagctagaggctcgtgcccGcaacatctgtgtggccacct	7	9	12	13	2	1	2	0	1	1	1	2	2	1	2	3	2	3	3	3	2	2	1	rs147501226		C3L-00080_TP	C3L-00080_NB	G	G																c.692G>T	p.Arg231Leu	p.R231L	ENST00000395052	3/6	318	189	129	323	322	1	strelka-varscan-mutect	GRM2,missense_variant,p.Arg231Leu,ENST00000395052,NM_000839.3;GRM2,missense_variant,p.Arg231Leu,ENST00000442933,;GRM2,downstream_gene_variant,,ENST00000419928,;GRM2,non_coding_transcript_exon_variant,,ENST00000496661,;GRM2,intron_variant,,ENST00000475478,;GRM2,downstream_gene_variant,,ENST00000477330,;GRM2,missense_variant,p.Arg231Leu,ENST00000296479,;GRM2,non_coding_transcript_exon_variant,,ENST00000464585,;	T	ENST00000395052	Transcript	missense_variant	926/3151	692/2619	231/872	R/L	cGc/cTc	rs147501226,COSM1566707	1		1	GRM2	HGNC	HGNC:4594	protein_coding	YES	CCDS2834.1	ENSP00000378492	Q14416		UPI000013E346	NM_000839.3	tolerated(0.42)		3/6		hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF111,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs147501226	.												T	3	4	7	51712714	51712714	G	T	1	0	0	0	0	1	0	0	0	6679	1087	38	1		1	GRM2	3	51712714	Missense_Mutation	SNP	G	C3L-00080_TP	5041194	51712714	146582845	156	2367											
ITIH3	0	.	GRCh38	chr3	52806365	52806365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcttcaacatcgatgaagCcccaggcacagtgctgcgcc	9	7	10	15	2	1	1	1	1	0	0	2	2	1	1	3	1	5	3	3	1	2	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2015C>T	p.Ala672Val	p.A672V	ENST00000449956	18/22	134	69	65	126	125	1	strelka-varscan-mutect	ITIH3,missense_variant,p.Ala672Val,ENST00000449956,NM_002217.3;ITIH3,3_prime_UTR_variant,,ENST00000621946,;ITIH3,intron_variant,,ENST00000416872,;ITIH3,non_coding_transcript_exon_variant,,ENST00000493136,;ITIH3,non_coding_transcript_exon_variant,,ENST00000495622,;ITIH3,downstream_gene_variant,,ENST00000475931,;ITIH3,downstream_gene_variant,,ENST00000464804,;ITIH3,downstream_gene_variant,,ENST00000465314,;	T	ENST00000449956	Transcript	missense_variant	2021/3007	2015/2673	672/890	A/V	gCc/gTc		1		1	ITIH3	HGNC	HGNC:6168	protein_coding	YES	CCDS46845.1	ENSP00000415769	Q06033		UPI00005CE290	NM_002217.3	tolerated(0.1)		18/22		hmmpanther:PTHR10338:SF115,hmmpanther:PTHR10338																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	52806365	52806365	C	T	1	0	0	0	0	1	0	0	0	7811	739	26	3		3	ITIH3	3	52806365	Missense_Mutation	SNP	C	C3L-00080_TP	1093651	52806365	145489194	157	2368											
FAM19A4	0	.	GRCh38	chr3	68752886	68752886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacacaagaaggttgagccCgagttgtgcccgccacctgt	10	7	11	13	2	0	2	0	1	0	1	0	3	0	2	4	1	3	2	4	1	3	2	rs148065010		C3L-00080_TP	C3L-00080_NB	C	C																c.263G>T	p.Arg88Leu	p.R88L	ENST00000295569	4/6	329	188	141	435	434	1	strelka-varscan-mutect	FAM19A4,missense_variant,p.Arg88Leu,ENST00000295569,NM_001005527.2,NM_182522.4;FAM19A4,downstream_gene_variant,,ENST00000634242,;FAM19A4,downstream_gene_variant,,ENST00000495737,;	A	ENST00000295569	Transcript	missense_variant	756/2292	263/423	88/140	R/L	cGg/cTg	rs148065010,COSM166557	1		-1	FAM19A4	HGNC	HGNC:21591	protein_coding	YES	CCDS2907.1	ENSP00000295569	Q96LR4	A0A024R369	UPI0000071129	NM_001005527.2,NM_182522.4	deleterious(0)		4/6		PD298472,Pfam_domain:PF12020,hmmpanther:PTHR31770,hmmpanther:PTHR31770:SF7											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs148065010	.												A	3	1	7	68752886	68752886	C	A	1	0	0	0	0	1	0	0	0	5381	652	23	1		1	FAM19A4	3	68752886	Missense_Mutation	SNP	C	C3L-00080_TP	15946521	68752886	129542673	158	2369											
POU1F1	0	.	GRCh38	chr3	87276405	87276405	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagaggcagagttgcagAggcgtcagaattcagaggta	13	8	14	6	1	3	5	3	0	0	5	3	5	3	5	0	3	1	4	0	3	3	4	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.58T>A	p.Ser20Thr	p.S20T	ENST00000344265	1/6	304	166	138	384	384	0	strelka-varscan-mutect	POU1F1,missense_variant,p.Ser20Thr,ENST00000350375,NM_000306.3;POU1F1,missense_variant,p.Ser20Thr,ENST00000344265,NM_001122757.2;POU1F1,missense_variant,p.Ser20Thr,ENST00000561167,;POU1F1,missense_variant,p.Ser20Thr,ENST00000560656,;	T	ENST00000344265	Transcript	missense_variant	100/1149	58/954	20/317	S/T	Tct/Act		1		-1	POU1F1	HGNC	HGNC:9210	protein_coding	YES	CCDS46873.1	ENSP00000342931	P28069		UPI000002B11B	NM_001122757.2	deleterious_low_confidence(0.01)		1/6																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	7	87276405	87276405	A	T	1	0	0	0	0	1	0	0	0	12385	304	11	4		4	POU1F1	3	87276405	Missense_Mutation	SNP	A	C3L-00080_TP	18523519	87276405	111019154	159	2370											
HTR1F	0	.	GRCh38	chr3	87991477	87991477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcactaaatcagtttccaCatcctatgtactagaaaagt	16	11	5	9	0	1	1	1	0	0	1	3	1	3	1	2	0	2	3	2	0	8	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.728C>T	p.Thr243Ile	p.T243I	ENST00000319595	1/1	80	50	30	123	123	0	strelka-varscan-mutect	HTR1F,missense_variant,p.Thr243Ile,ENST00000319595,NM_001322210.1,NM_001322209.1,NM_000866.3;	T	ENST00000319595	Transcript	missense_variant	782/3140	728/1101	243/366	T/I	aCa/aTa		1		1	HTR1F	HGNC	HGNC:5292	protein_coding	YES	CCDS2920.1	ENSP00000322924	P30939		UPI00000503DF	NM_001322210.1,NM_001322209.1,NM_000866.3	tolerated(0.31)		1/1		Pfam_domain:PF00001,Prints_domain:PR00515,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF34,SMART_domains:SM01381																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	7	87991477	87991477	C	T	1	0	0	0	0	1	0	0	0	7336	478	17	3		3	HTR1F	3	87991477	Missense_Mutation	SNP	C	C3L-00080_TP	715072	87991477	110304082	160	2371											
EPHA6	0	.	GRCh38	chr3	96987738	96987738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcttttcaagacattgggGcgtgcattgccctggtttca	6	14	12	9	1	2	1	2	0	0	1	2	1	2	1	1	4	2	3	1	4	1	5	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.859G>T	p.Ala287Ser	p.A287S	ENST00000389672	3/18	77	52	25	51	51	0	strelka-varscan-mutect	EPHA6,missense_variant,p.Ala287Ser,ENST00000389672,NM_001080448.2;EPHA6,missense_variant,p.Ala287Ser,ENST00000470610,;EPHA6,missense_variant,p.Ala232Ser,ENST00000506569,NM_001278301.1;	T	ENST00000389672	Transcript	missense_variant	897/3971	859/3393	287/1130	A/S	Gcg/Tcg		1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2	deleterious(0.01)		3/18		Gene3D:2.60.120.260,Pfam_domain:PF01404,PROSITE_patterns:PS00790,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,SMART_domains:SM00615,Superfamily_domains:SSF49785																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	7	96987738	96987738	G	T	1	0	0	0	0	1	0	0	0	5018	1203	42	2		2	EPHA6	3	96987738	Missense_Mutation	SNP	G	C3L-00080_TP	8996261	96987738	101307821	161	2372											
EPHA6	0	.	GRCh38	chr3	97244144	97244144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcatcccaagacatacagGcctgatcaacaattccgtga	13	9	6	13	1	2	3	2	2	0	1	4	3	4	3	3	1	2	0	3	1	4	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1463G>T	p.Gly488Val	p.G488V	ENST00000389672	5/18	295	194	101	192	192	0	strelka-varscan-mutect	EPHA6,missense_variant,p.Gly488Val,ENST00000389672,NM_001080448.2;EPHA6,missense_variant,p.Gly488Val,ENST00000470610,;	T	ENST00000389672	Transcript	missense_variant	1501/3971	1463/3393	488/1130	G/V	gGc/gTc		1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2	deleterious(0)		5/18		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	7	97244144	97244144	G	T	1	0	0	0	0	1	0	0	0	5018	1203	42	2		2	EPHA6	3	97244144	Missense_Mutation	SNP	G	C3L-00080_TP	256406	97244144	101051415	162	2373											
EPHA6	0	.	GRCh38	chr3	97720284	97720284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaaaatccccataaggtgGacagccccagaagccatcgc	14	4	10	13	1	0	1	0	0	0	1	2	3	1	3	5	3	2	0	5	3	4	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2808G>T	p.Trp936Cys	p.W936C	ENST00000389672	15/18	105	64	41	48	48	0	strelka-varscan-mutect	EPHA6,missense_variant,p.Trp936Cys,ENST00000389672,NM_001080448.2;EPHA6,missense_variant,p.Trp260Cys,ENST00000477384,;	T	ENST00000389672	Transcript	missense_variant	2846/3971	2808/3393	936/1130	W/C	tgG/tgT		1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2	deleterious(0)		15/18		Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		rs1215321701	.												T	3	4	7	97720284	97720284	G	T	1	0	0	0	0	1	0	0	0	5018	1183	41	2		2	EPHA6	3	97720284	Missense_Mutation	SNP	G	C3L-00080_TP	476140	97720284	100575275	163	2374											
OR5H1	0	.	GRCh38	chr3	98133027	98133027	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaatcagtgtaaccacGgaatgttttctcttggcaac	10	14	8	9	1	2	0	1	0	1	0	3	1	2	1	1	2	3	4	1	2	4	5	rs113686881		C3L-00080_TP	C3L-00080_NB	G	G																c.330G>C	p.=	p.T110T	ENST00000354565	1/1	381	248	133	310	309	1	strelka-varscan-mutect	OR5H1,synonymous_variant,p.=,ENST00000354565,NM_001005338.1;RP11-343D2.11,intron_variant,,ENST00000508964,;	C	ENST00000354565	Transcript	synonymous_variant	330/942	330/942	110/313	T	acG/acC	rs113686881,COSM3598244	1		1	OR5H1	HGNC	HGNC:8346	protein_coding	YES	CCDS33797.1	ENSP00000346575	A6NKK0	A0A126GW79	UPI0000197652	NM_001005338.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						LOW		SNV			0,1	1										PASS		rs113686881	.												C	2	2	7	98133027	98133027	G	C	1	0	0	0	0	0	0	0	1	11229	1103	39	4		4	OR5H1	3	98133027	Silent	SNP	G	C3L-00080_TP	412743	98133027	100162532	164	2375											
CEP97	0	.	GRCh38	chr3	101765130	101765130	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgagaaaagttccacagAaggcagtgaaagctccataa	16	9	9	7	0	0	3	0	2	0	2	2	4	2	3	2	1	1	3	2	1	5	4	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.2177A>T	p.Glu726Val	p.E726V	ENST00000341893	11/11	183	159	24	133	133	0	strelka-varscan-mutect	CEP97,missense_variant,p.Glu726Val,ENST00000341893,NM_024548.3;CEP97,missense_variant,p.Glu667Val,ENST00000494050,NM_001303401.1;CEP97,downstream_gene_variant,,ENST00000467655,;	T	ENST00000341893	Transcript	missense_variant	2929/8361	2177/2598	726/865	E/V	gAa/gTa		1		1	CEP97	HGNC	HGNC:26244	protein_coding	YES	CCDS2944.1	ENSP00000342510	Q8IW35		UPI0000074569	NM_024548.3	deleterious(0.03)		11/11																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	101765130	101765130	A	T	1	0	0	0	0	1	0	0	0	2989	246	9	4		4	CEP97	3	101765130	Missense_Mutation	SNP	A	C3L-00080_TP	3632103	101765130	96530429	165	2376											
ZPLD1	0	.	GRCh38	chr3	102469039	102469039	+	Frame_Shift_Del	DEL	C	C	-																															cggttttcttttgaagtgttCcgatttgtgaaacacaagaa																								rs746914724		C3L-00080_TP	C3L-00080_NB	C	C																c.886delC	p.Arg296AspfsTer3	p.R296Dfs*3	ENST00000306176	8/11	175	116	59	110	110	0	sindel-varindel-pindel	ZPLD1,frameshift_variant,p.Arg296AspfsTer3,ENST00000306176,NM_175056.1;ZPLD1,frameshift_variant,p.Arg280AspfsTer3,ENST00000491959,;ZPLD1,frameshift_variant,p.Arg280AspfsTer3,ENST00000466937,;	-	ENST00000306176	Transcript	frameshift_variant	985/3619	885/1296	295/431	F/X	ttC/tt	rs746914724,COSM3584724	1		1	ZPLD1	HGNC	HGNC:27022	protein_coding	YES	CCDS2947.1	ENSP00000307801	Q8TCW7		UPI000006EC89	NM_175056.1			8/11		PROSITE_profiles:PS51034,hmmpanther:PTHR24044:SF333,hmmpanther:PTHR24044,Pfam_domain:PF00100,SMART_domains:SM00241											0,1						HIGH	1	deletion	1	1	0,1	1										PASS		.	.												-	7	5	7	102469039	102469039	C	-	1	0	1	0	1	0	0	0	0	18813	854	30	0		0	ZPLD1	3	102469039	Frame_Shift_Del	DEL	C	C3L-00080_TP	703909	102469039	95826520	166	2377											
CBLB	0	.	GRCh38	chr3	105740601	105740601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccaatggcccactgtccCaatcgagtgcaacttaaccg	11	8	8	14	2	0	0	0	0	0	0	2	1	1	0	4	1	4	1	4	1	5	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.876G>T	p.Leu292Phe	p.L292F	ENST00000264122	7/19	597	515	82	387	387	0	strelka-varscan-mutect	CBLB,missense_variant,p.Leu292Phe,ENST00000264122,NM_001321786.1,NM_001321788.1,NM_170662.3;CBLB,missense_variant,p.Leu292Phe,ENST00000403724,;CBLB,missense_variant,p.Leu292Phe,ENST00000405772,;	A	ENST00000264122	Transcript	missense_variant	1198/6780	876/2949	292/982	L/F	ttG/ttT		1		-1	CBLB	HGNC	HGNC:1542	protein_coding	YES	CCDS2948.1	ENSP00000264122	Q13191		UPI00001AE89F	NM_001321786.1,NM_001321788.1,NM_170662.3	deleterious(0)		7/19		PROSITE_profiles:PS51506,hmmpanther:PTHR23007:SF3,hmmpanther:PTHR23007,Gene3D:3.30.505.10,Pfam_domain:PF02762,Superfamily_domains:SSF55550																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	105740601	105740601	C	A	1	0	0	0	0	1	0	0	0	2402	593	21	2		2	CBLB	3	105740601	Missense_Mutation	SNP	C	C3L-00080_TP	3271562	105740601	92554958	167	2378											
MORC1	0	.	GRCh38	chr3	109054862	109054862	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccaagggtatattaacaattCcaaccacgcctgcgccaagt	13	8	7	13	2	0	0	0	0	0	0	1	0	1	0	5	1	3	1	5	1	7	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1196G>C	p.Gly399Ala	p.G399A	ENST00000232603	14/28	304	267	37	268	268	0	strelka-varscan-mutect	MORC1,missense_variant,p.Gly399Ala,ENST00000232603,NM_014429.3;MORC1,missense_variant,p.Gly399Ala,ENST00000483760,;	G	ENST00000232603	Transcript	missense_variant	1279/3764	1196/2955	399/984	G/A	gGa/gCa		1		-1	MORC1	HGNC	HGNC:7198	protein_coding	YES	CCDS2955.1	ENSP00000232603	Q86VD1		UPI000013C964	NM_014429.3	deleterious(0.03)		14/28		hmmpanther:PTHR23337:SF6,hmmpanther:PTHR23337																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	109054862	109054862	C	G	1	0	0	0	0	1	0	0	0	9665	855	30	4		4	MORC1	3	109054862	Missense_Mutation	SNP	C	C3L-00080_TP	3314261	109054862	89240697	168	2379											
MORC1	0	.	GRCh38	chr3	109069736	109069736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacagatgtgtaggctctGaatgaccacctcgctgggaa	12	8	12	9	1	1	4	0	2	1	2	2	5	1	5	2	2	1	3	2	2	4	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.711C>A	p.Phe237Leu	p.F237L	ENST00000232603	9/28	153	106	47	146	146	0	strelka-varscan-mutect	MORC1,missense_variant,p.Phe237Leu,ENST00000232603,NM_014429.3;MORC1,missense_variant,p.Phe237Leu,ENST00000483760,;	T	ENST00000232603	Transcript	missense_variant	794/3764	711/2955	237/984	F/L	ttC/ttA		1		-1	MORC1	HGNC	HGNC:7198	protein_coding	YES	CCDS2955.1	ENSP00000232603	Q86VD1		UPI000013C964	NM_014429.3	tolerated(0.24)		9/28		hmmpanther:PTHR23337:SF6,hmmpanther:PTHR23337,Superfamily_domains:SSF55874																	MODERATE	1	SNV	1			1										PASS		rs1411876590	.												T	3	4	7	109069736	109069736	G	T	1	0	0	0	0	1	0	0	0	9665	1281	45	2		2	MORC1	3	109069736	Missense_Mutation	SNP	G	C3L-00080_TP	14874	109069736	89225823	169	2380											
PHLDB2	0	.	GRCh38	chr3	111884960	111884960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggatctacctcatagcGtaatagacaatgacaattac	18	9	6	8	1	2	2	1	1	1	1	2	3	2	3	1	1	3	1	1	1	9	5	rs548907756		C3L-00080_TP	C3L-00080_NB	G	G																c.883G>T	p.Val295Leu	p.V295L	ENST00000431670	2/18	263	181	82	202	202	0	strelka-varscan-mutect	PHLDB2,missense_variant,p.Val295Leu,ENST00000431670,NM_001134438.1;PHLDB2,missense_variant,p.Val295Leu,ENST00000412622,NM_145753.2;PHLDB2,missense_variant,p.Val295Leu,ENST00000477695,;PHLDB2,missense_variant,p.Val322Leu,ENST00000393923,NM_001134437.1;PHLDB2,missense_variant,p.Val295Leu,ENST00000393925,NM_001134439.1;PHLDB2,missense_variant,p.Val295Leu,ENST00000481953,;PHLDB2,missense_variant,p.Val295Leu,ENST00000498699,;PHLDB2,missense_variant,p.Val295Leu,ENST00000478922,;	T	ENST00000431670	Transcript	missense_variant	1294/6127	883/3762	295/1253	V/L	Gta/Tta	rs548907756,COSM5005064,COSM5005065,COSM5005066,COSM5571150,COSM5571151,COSM5571152	1		1	PHLDB2	HGNC	HGNC:29573	protein_coding	YES	CCDS46886.1	ENSP00000405405	Q86SQ0		UPI0000457152	NM_001134438.1	tolerated(0.61)		2/18													0,1,1,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1,1,1	1										PASS		rs548907756	.												T	3	4	7	111884960	111884960	G	T	1	0	0	0	0	1	0	0	0	11940	1145	40	1		1	PHLDB2	3	111884960	Missense_Mutation	SNP	G	C3L-00080_TP	2815224	111884960	86410599	170	2381											
DRD3	0	.	GRCh38	chr3	114131214	114131214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagatgtcgataatctgcCattgctgagttttcgaactt	11	14	8	8	2	1	2	0	1	1	1	3	4	1	2	1	0	3	2	1	0	3	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.910G>T	p.Gly304Cys	p.G304C	ENST00000383673	6/7	465	319	146	292	291	1	strelka-varscan-mutect	DRD3,missense_variant,p.Gly304Cys,ENST00000383673,NM_000796.5;DRD3,missense_variant,p.Gly304Cys,ENST00000460779,NM_001282563.2;DRD3,missense_variant,p.Gly304Cys,ENST00000467632,NM_001290809.1;DRD3,intron_variant,,ENST00000295881,NM_033663.5;	A	ENST00000383673	Transcript	missense_variant	1341/1640	910/1203	304/400	G/C	Ggc/Tgc		1		-1	DRD3	HGNC	HGNC:3024	protein_coding	YES	CCDS2978.1	ENSP00000373169	P35462	X5D2G4	UPI000013E2C2	NM_000796.5	deleterious(0)		6/7		PROSITE_profiles:PS50262,Pfam_domain:PF00001,SMART_domains:SM01381,Prints_domain:PR00568																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	114131214	114131214	C	A	1	0	0	0	0	1	0	0	0	4577	594	21	2		2	DRD3	3	114131214	Missense_Mutation	SNP	C	C3L-00080_TP	2246254	114131214	84164345	171	2382											
TMEM39A	0	.	GRCh38	chr3	119436848	119436848	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctgccacttgcccaggTgagcagctgatttatgtagc	8	12	10	11	0	1	2	0	2	1	0	1	2	1	2	2	1	5	3	2	1	2	5	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.1055A>C	p.His352Pro	p.H352P	ENST00000319172	7/9	129	110	19	83	83	0	strelka-varscan-mutect	TMEM39A,missense_variant,p.His352Pro,ENST00000319172,NM_018266.2;TMEM39A,downstream_gene_variant,,ENST00000491685,;TMEM39A,downstream_gene_variant,,ENST00000486159,;TMEM39A,3_prime_UTR_variant,,ENST00000438581,;TMEM39A,non_coding_transcript_exon_variant,,ENST00000468545,;TMEM39A,upstream_gene_variant,,ENST00000473684,;	G	ENST00000319172	Transcript	missense_variant	1476/4369	1055/1467	352/488	H/P	cAc/cCc		1		-1	TMEM39A	HGNC	HGNC:25600	protein_coding	YES	CCDS2987.1	ENSP00000326063	Q9NV64		UPI00000715E5	NM_018266.2	deleterious(0)		7/9		hmmpanther:PTHR12995,hmmpanther:PTHR12995:SF3,Pfam_domain:PF10271																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	119436848	119436848	T	G	1	0	0	0	0	1	0	0	0	16638	1696	59	5		5	TMEM39A	3	119436848	Missense_Mutation	SNP	T	C3L-00080_TP	5305634	119436848	78858711	172	2383											
CCDC58	0	.	GRCh38	chr3	122371781	122371781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattctgtcatcaattgtcCtcatcaccttgagtaattcc	9	16	4	12	0	5	1	4	1	1	0	7	1	7	1	3	0	0	1	3	0	3	6	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.71G>A	p.Arg24Lys	p.R24K	ENST00000291458	2/5	238	134	104	184	183	1	strelka-varscan-mutect	CCDC58,missense_variant,p.Arg24Lys,ENST00000291458,NM_001017928.2;CCDC58,missense_variant,p.Arg10Lys,ENST00000479899,NM_001308326.1;CCDC58,missense_variant,p.Arg21Lys,ENST00000479414,;CCDC58,intron_variant,,ENST00000497726,;CCDC58,non_coding_transcript_exon_variant,,ENST00000498466,;	T	ENST00000291458	Transcript	missense_variant	78/720	71/435	24/144	R/K	aGg/aAg		1		-1	CCDC58	HGNC	HGNC:31136	protein_coding	YES	CCDS33838.1	ENSP00000291458	Q4VC31		UPI000020A069	NM_001017928.2	deleterious(0)		2/5		Pfam_domain:PF09774,hmmpanther:PTHR31905																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	122371781	122371781	C	T	1	0	0	0	0	1	0	0	0	2530	681	24	3		3	CCDC58	3	122371781	Missense_Mutation	SNP	C	C3L-00080_TP	2934933	122371781	75923778	173	2384											
COL6A6	0	.	GRCh38	chr3	130571208	130571208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatgctgataaactcaatgCcacggcaaaggccttgcggg	11	8	12	10	2	1	2	1	2	0	0	1	2	1	2	2	3	4	2	2	3	4	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2792C>T	p.Ala931Val	p.A931V	ENST00000358511	6/36	181	142	39	137	137	0	strelka-varscan-mutect	COL6A6,missense_variant,p.Ala931Val,ENST00000358511,NM_001102608.1;	T	ENST00000358511	Transcript	missense_variant	2823/9581	2792/6792	931/2263	A/V	gCc/gTc		1		1	COL6A6	HGNC	HGNC:27023	protein_coding	YES	CCDS46911.1	ENSP00000351310	A6NMZ7		UPI00015B6548	NM_001102608.1	tolerated(0.28)		6/36		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	7	130571208	130571208	C	T	1	0	0	0	0	1	0	0	0	3492	739	26	3		3	COL6A6	3	130571208	Missense_Mutation	SNP	C	C3L-00080_TP	8199427	130571208	67724351	174	2385											
RYK	0	.	GRCh38	chr3	134175957	134175957	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcagccaggtctttgTggatgacttcccttctggcc	4	13	11	13	0	2	1	0	1	2	0	4	2	4	2	4	4	1	1	4	4	0	3	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.1397A>T	p.His466Leu	p.H466L	ENST00000620660	12/15	565	413	152	367	367	0	strelka-varscan-mutect	RYK,missense_variant,p.His466Leu,ENST00000620660,NM_001005861.2;RYK,missense_variant,p.His463Leu,ENST00000623711,NM_002958.3;RYK,missense_variant,p.His404Leu,ENST00000460933,;RYK,missense_variant,p.His83Leu,ENST00000484106,;RYK,3_prime_UTR_variant,,ENST00000486725,;RYK,non_coding_transcript_exon_variant,,ENST00000473208,;RYK,non_coding_transcript_exon_variant,,ENST00000481382,;HMGB3P14,downstream_gene_variant,,ENST00000494195,;	A	ENST00000620660	Transcript	missense_variant	1487/2942	1397/1833	466/610	H/L	cAc/cTc		1		-1	RYK	HGNC	HGNC:10481	protein_coding	YES	CCDS75016.1	ENSP00000478721		A0A087WUK1	UPI0000451C9D	NM_001005861.2	deleterious(0)		12/15		Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_patterns:PS00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF349,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	7	134175957	134175957	T	A	1	0	0	0	0	1	0	0	0	14027	1696	59	4		4	RYK	3	134175957	Missense_Mutation	SNP	T	C3L-00080_TP	3604749	134175957	64119602	175	2386											
EPHB1	0	.	GRCh38	chr3	134951633	134951633	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccaagaagtcagccttctGgtctgaggccccctacctca	9	8	8	16	0	4	2	2	1	2	1	4	2	4	2	5	2	2	0	5	2	3	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.386G>C	p.Trp129Ser	p.W129S	ENST00000398015	3/16	321	194	127	198	198	0	strelka-varscan-mutect	EPHB1,missense_variant,p.Trp129Ser,ENST00000398015,NM_004441.4;EPHB1,missense_variant,p.Trp107Ser,ENST00000460895,;EPHB1,missense_variant,p.Trp107Ser,ENST00000474732,;EPHB1,downstream_gene_variant,,ENST00000473867,;EPHB1,downstream_gene_variant,,ENST00000497173,;EPHB1,non_coding_transcript_exon_variant,,ENST00000488154,;EPHB1,missense_variant,p.Trp129Ser,ENST00000482618,;	C	ENST00000398015	Transcript	missense_variant	756/4672	386/2955	129/984	W/S	tGg/tCg		1		1	EPHB1	HGNC	HGNC:3392	protein_coding	YES	CCDS46921.1	ENSP00000381097	P54762		UPI000012A07E	NM_004441.4	deleterious(0.01)		3/16		Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,SMART_domains:SM00615,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	134951633	134951633	G	C	1	0	0	0	0	1	0	0	0	5021	1357	47	4		4	EPHB1	3	134951633	Missense_Mutation	SNP	G	C3L-00080_TP	775676	134951633	63343926	176	2387											
STAG1	0	.	GRCh38	chr3	136464981	136464981	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattggaaagagcttcttCacttccactgaaaaatacag	14	12	6	9	0	3	2	2	1	1	1	4	3	4	3	1	1	2	1	1	1	4	6	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1213G>T	p.Glu405Ter	p.E405*	ENST00000383202	13/34	160	104	56	129	129	0	strelka-varscan-mutect	STAG1,stop_gained,p.Glu405Ter,ENST00000383202,NM_005862.2;STAG1,stop_gained,p.Glu405Ter,ENST00000236698,;STAG1,stop_gained,p.Glu179Ter,ENST00000434713,;STAG1,3_prime_UTR_variant,,ENST00000629124,;STAG1,intron_variant,,ENST00000492318,;STAG1,3_prime_UTR_variant,,ENST00000483235,;STAG1,3_prime_UTR_variant,,ENST00000487065,;	A	ENST00000383202	Transcript	stop_gained	1470/6055	1213/3777	405/1258	E/*	Gaa/Taa		1		-1	STAG1	HGNC	HGNC:11354	protein_coding	YES	CCDS3090.1	ENSP00000372689	Q8WVM7		UPI000020A2DE	NM_005862.2			13/34		hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF6,Superfamily_domains:SSF48371																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	7	136464981	136464981	C	A	1	0	0	0	0	0	1	0	0	15620	835	29	2		2	STAG1	3	136464981	Nonsense_Mutation	SNP	C	C3L-00080_TP	1513348	136464981	61830578	177	2388											
ESYT3	0	.	GRCh38	chr3	138464500	138464500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggaacctgaaccccacctgGaacgaagtgtttgaggtaag	13	7	12	9	1	0	2	0	2	0	0	0	5	0	4	4	3	3	2	4	3	5	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1071G>C	p.Trp357Cys	p.W357C	ENST00000389567	9/23	206	150	56	121	121	0	strelka-varscan-mutect	ESYT3,missense_variant,p.Trp357Cys,ENST00000389567,NM_031913.3;ESYT3,downstream_gene_variant,,ENST00000289135,;ESYT3,missense_variant,p.Trp357Cys,ENST00000490835,;ESYT3,non_coding_transcript_exon_variant,,ENST00000486831,;ESYT3,upstream_gene_variant,,ENST00000468103,;	C	ENST00000389567	Transcript	missense_variant	1257/4407	1071/2661	357/886	W/C	tgG/tgC		1		1	ESYT3	HGNC	HGNC:24295	protein_coding	YES	CCDS3101.2	ENSP00000374218	A0FGR9		UPI0000251E45	NM_031913.3	deleterious(0)		9/23		Gene3D:2.60.40.150,Pfam_domain:PF00168,Prints_domain:PR00360,PROSITE_profiles:PS50004,hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF74,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	138464500	138464500	G	C	1	0	0	0	0	1	0	0	0	5128	1183	41	4		4	ESYT3	3	138464500	Missense_Mutation	SNP	G	C3L-00080_TP	1999519	138464500	59831059	178	2389											
CPB1	0	.	GRCh38	chr3	148845476	148845476	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttactgtggacctgccgcAgagtctgaaaaggagaccaa	13	7	11	10	1	1	3	0	1	1	2	1	5	1	4	3	2	2	1	3	2	4	1	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.831A>T	p.=	p.A277A	ENST00000491148	10/12	354	249	105	225	225	0	strelka-varscan-mutect	CPB1,synonymous_variant,p.=,ENST00000491148,;CPB1,synonymous_variant,p.=,ENST00000282957,NM_001871.2;CPB1,downstream_gene_variant,,ENST00000468341,;CPB1,downstream_gene_variant,,ENST00000462345,;CPB1,downstream_gene_variant,,ENST00000484877,;CPB1,downstream_gene_variant,,ENST00000465718,;	T	ENST00000491148	Transcript	synonymous_variant	1165/1773	831/1254	277/417	A	gcA/gcT		1		1	CPB1	HGNC	HGNC:2299	protein_coding	YES	CCDS33874.1	ENSP00000417222	P15086		UPI00001271CD				10/12		hmmpanther:PTHR11705:SF20,hmmpanther:PTHR11705,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	7	148845476	148845476	A	T	1	0	0	0	0	0	0	0	1	3590	175	7	4		4	CPB1	3	148845476	Silent	SNP	A	C3L-00080_TP	10380976	148845476	49450083	179	2390											
PLCH1	0	.	GRCh38	chr3	155481659	155481659	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgcatatcttgagcaCtagattgctggggcacacag	11	9	12	9	0	1	2	0	1	1	1	1	3	1	3	0	3	3	4	0	3	2	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.4391G>T	p.Ser1464Ile	p.S1464I	ENST00000340059	23/23	296	176	120	186	186	0	strelka-varscan-mutect	PLCH1,missense_variant,p.Ser1426Ile,ENST00000460012,;PLCH1,missense_variant,p.Ser1464Ile,ENST00000340059,NM_001130960.1;PLCH1,missense_variant,p.Ser1426Ile,ENST00000334686,NM_014996.2;PLCH1,3_prime_UTR_variant,,ENST00000447496,NM_001130961.1;PLCH1,intron_variant,,ENST00000494598,;PLCH1-AS2,upstream_gene_variant,,ENST00000472913,;	A	ENST00000340059	Transcript	missense_variant	4391/6168	4391/5082	1464/1693	S/I	aGt/aTt		1		-1	PLCH1	HGNC	HGNC:29185	protein_coding	YES	CCDS46939.1	ENSP00000345988	Q4KWH8		UPI00001D800E	NM_001130960.1	deleterious_low_confidence(0.04)		23/23																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	155481659	155481659	C	A	1	0	0	0	0	1	0	0	0	12131	565	20	2		2	PLCH1	3	155481659	Missense_Mutation	SNP	C	C3L-00080_TP	6636183	155481659	42813900	180	2391											
MFSD1	0	.	GRCh38	chr3	158814000	158814000	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaacctcatgggatggctGtattctaagattgaagcttt	11	14	10	6	0	2	3	1	2	1	1	2	4	2	4	1	2	2	3	1	2	4	5	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.732G>C	p.=	p.L244L	ENST00000415822	7/16	229	202	27	180	180	0	strelka-varscan-mutect	MFSD1,synonymous_variant,p.=,ENST00000415822,;MFSD1,synonymous_variant,p.=,ENST00000622669,NM_001289407.1,NM_022736.2;MFSD1,synonymous_variant,p.=,ENST00000392813,NM_001167903.1,NM_001289406.1;MFSD1,synonymous_variant,p.=,ENST00000264266,;MFSD1,synonymous_variant,p.=,ENST00000477743,;MFSD1,downstream_gene_variant,,ENST00000474670,;MFSD1,3_prime_UTR_variant,,ENST00000480292,;MFSD1,3_prime_UTR_variant,,ENST00000484166,;MFSD1,3_prime_UTR_variant,,ENST00000471500,;MFSD1,non_coding_transcript_exon_variant,,ENST00000489639,;MFSD1,downstream_gene_variant,,ENST00000471266,;MFSD1,downstream_gene_variant,,ENST00000476860,;	C	ENST00000415822	Transcript	synonymous_variant	873/2423	732/1545	244/514	L	ctG/ctC		1		1	MFSD1	HGNC	HGNC:25874	protein_coding	YES	CCDS3185.2	ENSP00000403117	Q9H3U5		UPI0001AE7604				7/16		PROSITE_profiles:PS50850,hmmpanther:PTHR23512:SF3,hmmpanther:PTHR23512,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		rs1347104192	.												C	2	2	7	158814000	158814000	G	C	1	0	0	0	0	0	0	0	1	9479	1364	48	4		4	MFSD1	3	158814000	Silent	SNP	G	C3L-00080_TP	3332341	158814000	39481559	181	2392											
SMC4	0	.	GRCh38	chr3	160417864	160417864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taactaaggctaaggaagctCtaattgcagcttctgagact	13	11	9	8	0	2	1	0	1	2	1	2	3	2	2	0	2	4	4	0	2	5	6	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1579C>G	p.Leu527Val	p.L527V	ENST00000357388	11/24	282	206	76	208	208	0	strelka-varscan-mutect	SMC4,missense_variant,p.Leu527Val,ENST00000357388,NM_001002800.2;SMC4,missense_variant,p.Leu527Val,ENST00000344722,NM_005496.3;SMC4,missense_variant,p.Leu527Val,ENST00000462787,;SMC4,missense_variant,p.Leu502Val,ENST00000469762,NM_001288753.1;SMC4,downstream_gene_variant,,ENST00000489573,;SMC4,downstream_gene_variant,,ENST00000487747,;SMC4,downstream_gene_variant,,ENST00000494612,;SMC4,downstream_gene_variant,,ENST00000497984,;SMC4,3_prime_UTR_variant,,ENST00000469858,;SMC4,non_coding_transcript_exon_variant,,ENST00000462668,;SMC4,non_coding_transcript_exon_variant,,ENST00000484799,;RP11-432B6.3,intron_variant,,ENST00000483754,;SMC4,downstream_gene_variant,,ENST00000468653,;SMC4,downstream_gene_variant,,ENST00000465563,;SMC4,upstream_gene_variant,,ENST00000497203,;SMC4,downstream_gene_variant,,ENST00000493695,;SMC4,downstream_gene_variant,,ENST00000467263,;	G	ENST00000357388	Transcript	missense_variant	2030/5471	1579/3867	527/1288	L/V	Cta/Gta		1		1	SMC4	HGNC	HGNC:14013	protein_coding	YES	CCDS3189.1	ENSP00000349961	Q9NTJ3		UPI000006DA0A	NM_001002800.2	tolerated(0.08)		11/24		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF277,Superfamily_domains:SSF57997																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	160417864	160417864	C	G	1	0	0	0	0	1	0	0	0	15078	912	32	4		4	SMC4	3	160417864	Missense_Mutation	SNP	C	C3L-00080_TP	1603864	160417864	37877695	182	2393											
BCHE	0	.	GRCh38	chr3	165830743	165830743	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcctggaaaactttgatcTatgttctgacagcaagaatt	14	12	8	7	0	2	3	0	2	2	1	2	4	2	4	1	1	3	2	1	1	6	4	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.291A>G	p.Ile97Met	p.I97M	ENST00000264381	2/4	177	148	29	166	166	0	strelka-varscan-mutect	BCHE,missense_variant,p.Ile97Met,ENST00000264381,NM_000055.2;BCHE,intron_variant,,ENST00000488954,;BCHE,intron_variant,,ENST00000479451,;BCHE,missense_variant,p.Ile97Met,ENST00000482958,;BCHE,missense_variant,p.Ile97Met,ENST00000497011,;	C	ENST00000264381	Transcript	missense_variant	458/2454	291/1809	97/602	I/M	atA/atG		1		-1	BCHE	HGNC	HGNC:983	protein_coding	YES	CCDS3198.1	ENSP00000264381	P06276		UPI0000127866	NM_000055.2	tolerated(0.1)		2/4		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF215,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	165830743	165830743	T	C	1	0	0	0	0	1	0	0	0	1505	1512	53	5		5	BCHE	3	165830743	Missense_Mutation	SNP	T	C3L-00080_TP	5412879	165830743	32464816	183	2394											
WDR49	0	.	GRCh38	chr3	167604460	167604460	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagcgtctaaagatgcatTgtaagtaactgataaaaaat	18	11	8	4	1	1	2	0	1	1	1	1	3	1	2	0	0	3	3	0	0	8	6	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.138A>T	p.Asn47Tyr	p.N47Y	ENST00000472600	2/14	115	79	36	88	87	1	varscan-mutect	WDR49,missense_variant,p.Asn47Tyr,ENST00000472600,;WDR49,missense_variant,p.Asn323Tyr,ENST00000479765,;WDR49,5_prime_UTR_variant,,ENST00000308378,NM_178824.3;WDR49,intron_variant,,ENST00000466760,;WDR49,synonymous_variant,p.=,ENST00000460448,;	A	ENST00000472600	Transcript	missense_variant	138/2215	139/2025	47/674	N/Y	Aat/Tat		1		-1	WDR49	HGNC	HGNC:26587	protein_coding			ENSP00000419130		H0Y8A5	UPI0001B7975B		tolerated(0.14)		2/14		Gene3D:2.130.10.10,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF219,SMART_domains:SM00320																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	7	167604460	167604460	T	A	1	0	0	0	0	1	0	0	0	17862	1812	63	4		4	WDR49	3	167604460	Missense_Mutation	SNP	T	C3L-00080_TP	1773717	167604460	30691099	184	2395											
GOLIM4	0	.	GRCh38	chr3	168029964	168029964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcctccacctgctgcactgCcagtctctgctgttccaact	5	12	6	18	0	1	0	0	0	1	0	5	0	4	0	5	0	5	4	5	0	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1249G>T	p.Ala417Ser	p.A417S	ENST00000470487	10/16	406	308	98	277	277	0	strelka-varscan-mutect	GOLIM4,missense_variant,p.Ala417Ser,ENST00000470487,NM_014498.3;GOLIM4,missense_variant,p.Ala389Ser,ENST00000309027,NM_001308155.1;	A	ENST00000470487	Transcript	missense_variant	1939/4373	1249/2091	417/696	A/S	Gca/Tca		1		-1	GOLIM4	HGNC	HGNC:15448	protein_coding	YES	CCDS3204.1	ENSP00000417354	O00461		UPI0000073BF8	NM_014498.3	deleterious(0.01)		10/16		hmmpanther:PTHR22909:SF22,hmmpanther:PTHR22909																	MODERATE	1	SNV	1			1										PASS		rs1490698044	.												A	3	1	7	168029964	168029964	C	A	1	0	0	0	0	1	0	0	0	6460	739	26	2		2	GOLIM4	3	168029964	Missense_Mutation	SNP	C	C3L-00080_TP	425504	168029964	30265595	185	2396											
SLC7A14	0	.	GRCh38	chr3	170483349	170483349	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagccatggcataaatGaccctcggcatcgggaagag	12	6	11	12	2	1	2	1	1	0	1	3	3	1	3	3	3	1	2	3	3	3	1			C3L-00080_TP	C3L-00080_NB	G	G																c.1080C>A	p.=	p.V360V	ENST00000231706	6/8	350	215	135	312	312	0	strelka-varscan-mutect	SLC7A14,synonymous_variant,p.=,ENST00000231706,NM_020949.2;CLDN11,intron_variant,,ENST00000486975,;CLDN11,intron_variant,,ENST00000480067,;CLDN11,intron_variant,,ENST00000471373,;	T	ENST00000231706	Transcript	synonymous_variant	1396/10103	1080/2316	360/771	V	gtC/gtA	COSM3590056	1		-1	SLC7A14	HGNC	HGNC:29326	protein_coding	YES	CCDS33892.1	ENSP00000231706	Q8TBB6		UPI0000051F6B	NM_020949.2			6/8		hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF361,Pfam_domain:PF13520											1						LOW	1	SNV	2		1	1										PASS		.	.												T	2	4	7	170483349	170483349	G	T	1	0	0	0	0	0	0	0	1	14979	1277	45	2		2	SLC7A14	3	170483349	Silent	SNP	G	C3L-00080_TP	2453385	170483349	27812210	186	2397											
NLGN1	0	.	GRCh38	chr3	174280914	174280914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaacatcttggcctttGcagccctgtactacaaaaag	11	12	7	11	0	2	1	0	1	2	0	2	1	2	1	2	1	5	2	2	1	5	5	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2083G>A	p.Ala695Thr	p.A695T	ENST00000457714	7/7	319	277	42	196	196	0	strelka-varscan-mutect	NLGN1,missense_variant,p.Ala695Thr,ENST00000457714,NM_014932.3;NLGN1,missense_variant,p.Ala695Thr,ENST00000361589,;NLGN1,missense_variant,p.Ala480Thr,ENST00000401917,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;NLGN1,downstream_gene_variant,,ENST00000469564,;	A	ENST00000457714	Transcript	missense_variant	2512/8242	2083/2472	695/823	A/T	Gca/Aca		1		1	NLGN1	HGNC	HGNC:14291	protein_coding	YES	CCDS3222.1	ENSP00000392500	Q8N2Q7		UPI0000072F54	NM_014932.3	deleterious(0)		7/7		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR01090																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	174280914	174280914	G	A	1	0	0	0	0	1	0	0	0	10498	1319	46	3		3	NLGN1	3	174280914	Missense_Mutation	SNP	G	C3L-00080_TP	3797565	174280914	24014645	187	2398											
RTP1	0	.	GRCh38	chr3	187199946	187199946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctcccgggcgcccagccCcaccaagtcgcaggaccaga	8	4	10	19	3	1	1	0	0	1	1	3	2	1	2	6	2	1	1	6	2	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.668C>A	p.Pro223His	p.P223H	ENST00000312295	2/2	46	42	4	32	32	0	strelka-mutect	RTP1,missense_variant,p.Pro223His,ENST00000312295,NM_153708.2;RP11-208N14.4,non_coding_transcript_exon_variant,,ENST00000356133,;	A	ENST00000312295	Transcript	missense_variant	698/2217	668/792	223/263	P/H	cCc/cAc		1		1	RTP1	HGNC	HGNC:28580	protein_coding	YES	CCDS3287.2	ENSP00000311712	P59025		UPI00004E18F3	NM_153708.2	tolerated(0.14)		2/2		hmmpanther:PTHR14402,hmmpanther:PTHR14402:SF19																	MODERATE	1	SNV	1			1										PASS		rs1385844276	.												A	3	1	7	187199946	187199946	C	A	1	0	0	0	0	1	0	0	0	13993	623	22	2		2	RTP1	3	187199946	Missense_Mutation	SNP	C	C3L-00080_TP	12919032	187199946	11095613	188	2399											
MELTF	0	.	GRCh38	chr3	197006608	197006608	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcgggccggaccatcaCggcgtggggtggtatctgtg	4	9	19	9	4	2	0	1	0	1	0	3	1	2	1	2	7	0	1	2	7	1	1	rs371828705		C3L-00080_TP	C3L-00080_NB	C	C																c.1879G>T	p.Val627Leu	p.V627L	ENST00000296350	14/16	216	143	73	143	143	0	strelka-varscan-mutect	MELTF,missense_variant,p.Val627Leu,ENST00000296350,NM_005929.5;MFI2-AS1,downstream_gene_variant,,ENST00000415244,;MFI2-AS1,downstream_gene_variant,,ENST00000414354,;MFI2-AS1,downstream_gene_variant,,ENST00000424769,;MFI2-AS1,downstream_gene_variant,,ENST00000437064,;MFI2-AS1,downstream_gene_variant,,ENST00000446695,;MELTF,upstream_gene_variant,,ENST00000469783,;	A	ENST00000296350	Transcript	missense_variant	1993/3963	1879/2217	627/738	V/L	Gtg/Ttg	rs371828705,COSM2947662	1		-1	MELTF	HGNC	HGNC:7037	protein_coding	YES	CCDS3325.1	ENSP00000296350	P08582		UPI000013E329	NM_005929.5	deleterious(0)		14/16		Gene3D:3.40.190.10,Pfam_domain:PF00405,PIRSF_domain:PIRSF002549,PROSITE_patterns:PS00207,PROSITE_profiles:PS51408,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF21,SMART_domains:SM00094,Superfamily_domains:SSF53850											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs371828705	.												A	3	1	7	197006608	197006608	C	A	1	0	0	0	0	1	0	0	0	9415	536	19	1		1	MELTF	3	197006608	Missense_Mutation	SNP	C	C3L-00080_TP	9806662	197006608	1288951	189	2400											
RUBCN	0	.	GRCh38	chr3	197700985	197700985	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggggctggtcagagtacTggagctcatttcatttgggg	7	13	15	6	0	3	1	3	0	0	1	3	2	3	2	0	6	2	3	0	6	2	4	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.889A>T	p.Ser297Cys	p.S297C	ENST00000296343	7/20	307	261	46	188	188	0	strelka-varscan-mutect	RUBCN,missense_variant,p.Ser237Cys,ENST00000273582,NM_001145642.3;RUBCN,missense_variant,p.Ser276Cys,ENST00000413360,;RUBCN,missense_variant,p.Ser297Cys,ENST00000296343,NM_014687.2;RUBCN,missense_variant,p.Ser56Cys,ENST00000415452,;RUBCN,missense_variant,p.Ser297Cys,ENST00000449205,;RUBCN,downstream_gene_variant,,ENST00000474214,;RUBCN,upstream_gene_variant,,ENST00000447048,;RUBCN,downstream_gene_variant,,ENST00000467303,;	A	ENST00000296343	Transcript	missense_variant	889/2919	889/2919	297/972	S/C	Agt/Tgt		1		-1	RUBCN	HGNC	HGNC:28991	protein_coding	YES	CCDS43195.1	ENSP00000296343	Q92622		UPI00001C1DE4	NM_014687.2	tolerated(0.07)		7/20		hmmpanther:PTHR12326:SF11,hmmpanther:PTHR12326																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	7	197700985	197700985	T	A	1	0	0	0	0	1	0	0	0	13999	1580	55	4		4	RUBCN	3	197700985	Missense_Mutation	SNP	T	C3L-00080_TP	694377	197700985	594574	190	2401											
SLC26A1	0	.	GRCh38	chr4	991558	991558	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggagcaggtcctgcaccAgcgcccggacgcacagcaca	9	2	14	16	4	0	0	0	0	0	0	1	2	1	2	3	4	4	4	3	4	0	0	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.146T>A	p.Leu49Gln	p.L49Q	ENST00000361661	3/4	82	57	25	61	61	0	strelka-varscan-mutect	SLC26A1,missense_variant,p.Leu49Gln,ENST00000361661,NM_213613.3;SLC26A1,missense_variant,p.Leu49Gln,ENST00000398516,NM_022042.3;SLC26A1,missense_variant,p.Leu49Gln,ENST00000398520,NM_134425.2;SLC26A1,missense_variant,p.Leu49Gln,ENST00000622731,;IDUA,intron_variant,,ENST00000247933,NM_000203.4;IDUA,intron_variant,,ENST00000502910,;IDUA,intron_variant,,ENST00000504568,;IDUA,upstream_gene_variant,,ENST00000509948,;IDUA,upstream_gene_variant,,ENST00000514192,;DGKQ,upstream_gene_variant,,ENST00000510286,;IDUA,downstream_gene_variant,,ENST00000509744,;SLC26A1,upstream_gene_variant,,ENST00000513138,;IDUA,intron_variant,,ENST00000514698,;IDUA,intron_variant,,ENST00000506561,;IDUA,intron_variant,,ENST00000508168,;	T	ENST00000361661	Transcript	missense_variant	524/3660	146/2106	49/701	L/Q	cTg/cAg		1		-1	SLC26A1	HGNC	HGNC:10993	protein_coding	YES	CCDS33934.1	ENSP00000354721	Q9H2B4		UPI000013D9D4	NM_213613.3	tolerated(0.29)		3/4		hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF31																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	991558	991558	A	T	1	0	0	0	0	1	0	0	0	14784	188	7	4		4	SLC26A1	4	991558	Missense_Mutation	SNP	A	C3L-00080_TP		991558	189222997	191	2402											
ZFYVE28	0	.	GRCh38	chr4	2320222	2320222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacagctcggacatgtcttCcaccttgcggtccaagttca	9	10	9	13	2	2	0	1	0	1	0	5	2	4	1	3	2	3	2	3	2	2	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.751G>A	p.Glu251Lys	p.E251K	ENST00000290974	7/13	267	226	41	267	267	0	strelka-varscan-mutect	ZFYVE28,missense_variant,p.Glu251Lys,ENST00000290974,NM_020972.2;ZFYVE28,missense_variant,p.Glu221Lys,ENST00000511071,NM_001172656.1;ZFYVE28,missense_variant,p.Glu181Lys,ENST00000515312,NM_001172659.1;RP11-478C1.7,downstream_gene_variant,,ENST00000510632,;RN7SL589P,upstream_gene_variant,,ENST00000481268,;RP11-478C1.8,upstream_gene_variant,,ENST00000506116,;	T	ENST00000290974	Transcript	missense_variant	1091/4131	751/2664	251/887	E/K	Gaa/Aaa		1		-1	ZFYVE28	HGNC	HGNC:29334	protein_coding	YES	CCDS33942.1	ENSP00000290974	Q9HCC9		UPI00001C1E08	NM_020972.2	deleterious(0)		7/13		hmmpanther:PTHR22835:SF41,hmmpanther:PTHR22835																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	2320222	2320222	C	T	1	0	0	0	0	1	0	0	0	18247	864	30	3		3	ZFYVE28	4	2320222	Missense_Mutation	SNP	C	C3L-00080_TP	1328664	2320222	187894333	192	2403											
C4orf50	0	.	GRCh38	chr4	5980264	5980264	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagctggcactgcagggtCagcacccggtgatggagctg	7	7	16	11	1	1	2	1	2	0	0	1	3	1	3	1	4	4	5	1	4	0	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.3774G>C	p.=	p.L1258L	ENST00000531445	7/12	149	85	64	143	143	0	strelka-varscan-mutect	C4orf50,synonymous_variant,p.=,ENST00000531445,;C4orf50,synonymous_variant,p.=,ENST00000324058,;	G	ENST00000531445	Transcript	synonymous_variant	3850/6860	3774/4527	1258/1508	L	ctG/ctC		1		-1	C4orf50	HGNC	HGNC:33766	protein_coding	YES		ENSP00000437121		E9PNW5					7/12		hmmpanther:PTHR36866,Pfam_domain:PF15030																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	7	5980264	5980264	C	G	1	0	0	0	0	0	0	0	1	2089	813	29	4		4	C4orf50	4	5980264	Silent	SNP	C	C3L-00080_TP	3660042	5980264	184234291	193	2404											
AFAP1	0	.	GRCh38	chr4	7800485	7800485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgcgcagcagccggaacGtcagaggatgtttagaatcc	10	8	13	10	4	1	2	1	0	0	2	2	4	2	4	2	2	4	4	2	2	3	3	rs774337434		C3L-00080_TP	C3L-00080_NB	G	G																c.1223C>T	p.Thr408Met	p.T408M	ENST00000420658	10/18	405	335	70	406	406	0	strelka-varscan-mutect	AFAP1,missense_variant,p.Thr408Met,ENST00000420658,NM_001134647.1;AFAP1,missense_variant,p.Thr408Met,ENST00000358461,NM_198595.2;AFAP1,missense_variant,p.Thr408Met,ENST00000360265,;AFAP1,missense_variant,p.Thr408Met,ENST00000382543,;AFAP1,upstream_gene_variant,,ENST00000513842,;	A	ENST00000420658	Transcript	missense_variant	1496/7768	1223/2445	408/814	T/M	aCg/aTg	rs774337434,COSM4168027,COSM4168028	1		-1	AFAP1	HGNC	HGNC:24017	protein_coding	YES	CCDS47010.1	ENSP00000410689	Q8N556		UPI000048041E	NM_001134647.1	deleterious(0)		10/18		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF8,SMART_domains:SM00233,Superfamily_domains:SSF50729											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs774337434	.												A	3	1	7	7800485	7800485	G	A	1	0	0	0	0	1	0	0	0	430	1145	40	1		1	AFAP1	4	7800485	Missense_Mutation	SNP	G	C3L-00080_TP	1820221	7800485	182414070	194	2405											
DRD5	0	.	GRCh38	chr4	9782248	9782248	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagccgccacctgcgcgcCaacatgaccaacgtcttcat	9	6	9	17	5	2	1	1	1	1	0	2	2	2	2	5	1	4	0	5	1	2	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.219C>A	p.=	p.A73A	ENST00000304374	1/1	115	95	20	98	98	0	varscan-mutect	DRD5,synonymous_variant,p.=,ENST00000304374,NM_000798.4;SLC2A9,intron_variant,,ENST00000503803,;SLC2A9,intron_variant,,ENST00000508585,;	A	ENST00000304374	Transcript	synonymous_variant	569/2330	219/1434	73/477	A	gcC/gcA		1		1	DRD5	HGNC	HGNC:3026	protein_coding	YES	CCDS3405.1	ENSP00000306129	P21918		UPI000004E905	NM_000798.4			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF295,hmmpanther:PTHR24249,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	7	9782248	9782248	C	A	1	0	0	0	0	0	0	0	1	4579	581	21	2		2	DRD5	4	9782248	Silent	SNP	C	C3L-00080_TP	1981763	9782248	180432307	195	2406											
RBPJ	0	.	GRCh38	chr4	26430427	26430427	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaattgcagttgaatggCggtggggacgtagcaatgct	9	11	16	5	2	0	2	0	2	0	0	0	3	0	3	0	4	3	5	0	4	4	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1092C>T	p.=	p.G364G	ENST00000342295	11/12	193	164	29	180	180	0	strelka-varscan-mutect	RBPJ,synonymous_variant,p.=,ENST00000355476,NM_203284.2;RBPJ,synonymous_variant,p.=,ENST00000342295,NM_005349.3;RBPJ,synonymous_variant,p.=,ENST00000342320,;RBPJ,synonymous_variant,p.=,ENST00000348160,NM_015874.4;RBPJ,synonymous_variant,p.=,ENST00000361572,;RBPJ,synonymous_variant,p.=,ENST00000507561,;RBPJ,synonymous_variant,p.=,ENST00000345843,NM_203283.2;RBPJ,synonymous_variant,p.=,ENST00000504423,;RBPJ,intron_variant,,ENST00000504907,;RBPJ,non_coding_transcript_exon_variant,,ENST00000514380,;RBPJ,non_coding_transcript_exon_variant,,ENST00000505727,;RBPJ,downstream_gene_variant,,ENST00000510725,;	T	ENST00000342295	Transcript	synonymous_variant	1328/5860	1092/1503	364/500	G	ggC/ggT		1		1	RBPJ	HGNC	HGNC:5724	protein_coding	YES	CCDS3437.1	ENSP00000345206	Q06330		UPI000020BDF1	NM_005349.3			11/12		hmmpanther:PTHR10665:SF3,hmmpanther:PTHR10665,Gene3D:2.60.40.10,Superfamily_domains:SSF81296																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	7	26430427	26430427	C	T	1	0	0	0	0	0	0	0	1	13329	755	27	1		1	RBPJ	4	26430427	Silent	SNP	C	C3L-00080_TP	16648179	26430427	163784128	196	2407											
CENPC	0	.	GRCh38	chr4	67514173	67514173	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaaattcgtcttgggtaaTatgtgatgtatgtatgtttt	9	20	10	2	1	1	2	0	2	1	0	2	2	1	2	0	1	0	4	0	1	5	9	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.1345A>T	p.Ile449Phe	p.I449F	ENST00000273853	8/19	93	70	23	199	199	0	strelka-varscan-mutect	CENPC,missense_variant,p.Ile449Phe,ENST00000273853,NM_001812.2;CENPC,missense_variant,p.Ile449Phe,ENST00000506882,;CENPC,missense_variant,p.Ile356Phe,ENST00000513216,;CENPC,non_coding_transcript_exon_variant,,ENST00000510189,;CENPC,non_coding_transcript_exon_variant,,ENST00000506410,;	A	ENST00000273853	Transcript	missense_variant	1596/6940	1345/2832	449/943	I/F	Att/Ttt		1		-1	CENPC	HGNC	HGNC:1854	protein_coding	YES	CCDS47063.1	ENSP00000273853	Q03188		UPI00004135A3	NM_001812.2	deleterious(0.02)		8/19		Pfam_domain:PF15620,hmmpanther:PTHR16684																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	67514173	67514173	T	A	1	0	0	0	0	1	0	0	0	2937	1406	49	4		4	CENPC	4	67514173	Missense_Mutation	SNP	T	C3L-00080_TP	41083746	67514173	122700382	197	2408											
CSN3	0	.	GRCh38	chr4	70249305	70249305	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggataaaataatcatccCtaccatcaataccattgcta	16	11	3	11	0	3	0	3	0	0	0	4	1	4	1	3	1	3	1	3	1	7	6	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.395C>A	p.Pro132His	p.P132H	ENST00000304954	4/5	387	305	82	457	454	3	strelka-varscan-mutect	CSN3,missense_variant,p.Pro132His,ENST00000304954,NM_005212.2;	A	ENST00000304954	Transcript	missense_variant	481/836	395/549	132/182	P/H	cCt/cAt		1		1	CSN3	HGNC	HGNC:2446	protein_coding	YES	CCDS3538.1	ENSP00000304822	P07498		UPI000004F262	NM_005212.2	deleterious(0)		4/5		Low_complexity_(Seg):seg,hmmpanther:PTHR11470:SF2,hmmpanther:PTHR11470,Pfam_domain:PF00997,PIRSF_domain:PIRSF002374																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	70249305	70249305	C	A	1	0	0	0	0	1	0	0	0	3749	681	24	2		2	CSN3	4	70249305	Missense_Mutation	SNP	C	C3L-00080_TP	2735132	70249305	119965250	198	2409											
GRID2	0	.	GRCh38	chr4	93085065	93085065	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcacgtcagcaggatccctCcagtctttggcagacgccat	8	9	10	14	2	2	1	1	0	1	1	4	2	4	2	3	2	2	3	3	2	0	1	rs746205784		C3L-00080_TP	C3L-00080_NB	C	C																c.315C>A	p.=	p.L105L	ENST00000282020	3/16	226	122	104	266	266	0	strelka-varscan-mutect	GRID2,synonymous_variant,p.=,ENST00000282020,NM_001510.3;GRID2,synonymous_variant,p.=,ENST00000611049,;GRID2,intron_variant,,ENST00000510992,NM_001286838.1;GRID2,non_coding_transcript_exon_variant,,ENST00000505687,;GRID2,non_coding_transcript_exon_variant,,ENST00000515744,;GRID2,synonymous_variant,p.=,ENST00000502699,;	A	ENST00000282020	Transcript	synonymous_variant	1350/6117	315/3024	105/1007	L	ctC/ctA	rs746205784,COSM5258127	1		1	GRID2	HGNC	HGNC:4576	protein_coding	YES	CCDS3637.1	ENSP00000282020	O43424		UPI00001AEA78	NM_001510.3			3/16		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF109,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822											0,1						LOW	1	SNV	1		0,1	1										PASS		rs746205784	.												A	2	1	7	93085065	93085065	C	A	1	0	0	0	0	0	0	0	1	6652	842	30	2		2	GRID2	4	93085065	Silent	SNP	C	C3L-00080_TP	22835760	93085065	97129490	199	2410											
MTTP	0	.	GRCh38	chr4	99608856	99608856	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctgctatcattttaaatAacaatccatcctacatggac	14	12	4	11	0	1	0	1	0	0	0	3	1	3	1	2	1	4	2	2	1	6	5	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.1729A>T	p.Asn577Tyr	p.N577Y	ENST00000511045	12/18	294	154	140	342	342	0	strelka-varscan-mutect	MTTP,missense_variant,p.Asn550Tyr,ENST00000457717,NM_000253.3;MTTP,missense_variant,p.Asn550Tyr,ENST00000265517,;MTTP,missense_variant,p.Asn577Tyr,ENST00000511045,NM_001300785.1;RP11-766F14.1,intron_variant,,ENST00000508578,;	T	ENST00000511045	Transcript	missense_variant	1742/3154	1729/2766	577/921	N/Y	Aac/Tac		1		1	MTTP	HGNC	HGNC:7467	protein_coding	YES	CCDS75169.1	ENSP00000427679		E9PBP6	UPI0001D3B6EF	NM_001300785.1	deleterious(0)		12/18		Superfamily_domains:0040642,Gene3D:1lshA02,Pfam_domain:PF01347,PROSITE_profiles:PS51211,hmmpanther:PTHR13024,hmmpanther:PTHR13024:SF1,SMART_domains:SM00638																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	7	99608856	99608856	A	T	1	0	0	0	0	1	0	0	0	9961	362	13	4		4	MTTP	4	99608856	Missense_Mutation	SNP	A	C3L-00080_TP	6523791	99608856	90605699	200	2411											
NDST3	0	.	GRCh38	chr4	118255661	118255661	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagctgctgcacaaactGggtcagcctctgccatcctg	9	9	9	14	0	3	0	2	0	1	0	4	0	4	0	3	1	6	3	3	1	2	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2571G>A	p.=	p.L857L	ENST00000296499	14/14	79	47	32	95	95	0	strelka-varscan-mutect	NDST3,synonymous_variant,p.=,ENST00000296499,NM_004784.2;	A	ENST00000296499	Transcript	synonymous_variant	2974/5961	2571/2622	857/873	L	ctG/ctA		1		1	NDST3	HGNC	HGNC:7682	protein_coding	YES	CCDS3708.1	ENSP00000296499	O95803		UPI0000071C44	NM_004784.2			14/14		Gene3D:3.40.50.300,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF29,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	118255661	118255661	G	A	1	0	0	0	0	0	0	0	1	10278	1335	47	3		3	NDST3	4	118255661	Silent	SNP	G	C3L-00080_TP	18646805	118255661	71958894	201	2412											
FREM3	0	.	GRCh38	chr4	143577842	143577842	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcggctgataccaacataAtctgttccagctagtgaaaa	13	12	7	9	1	1	2	0	2	1	0	3	2	2	2	2	1	3	3	2	1	6	5	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.6189T>C	p.=	p.D2063D	ENST00000329798	8/8	111	62	49	173	173	0	strelka-varscan-mutect	FREM3,synonymous_variant,p.=,ENST00000329798,NM_001168235.1;GUSBP5,intron_variant,,ENST00000511042,;GUSBP5,downstream_gene_variant,,ENST00000396724,;	G	ENST00000329798	Transcript	synonymous_variant	6189/6729	6189/6420	2063/2139	D	gaT/gaC		1		-1	FREM3	HGNC	HGNC:25172	protein_coding	YES	CCDS54808.1	ENSP00000332886	P0C091		UPI0000D615C2	NM_001168235.1			8/8		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF31,SMART_domains:SM00237,Superfamily_domains:SSF141072																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	7	143577842	143577842	A	G	1	0	0	0	0	0	0	0	1	5913	98	4	5		5	FREM3	4	143577842	Silent	SNP	A	C3L-00080_TP	25322181	143577842	46636713	202	2413											
FREM3	0	.	GRCh38	chr4	143699606	143699606	+	Frame_Shift_Del	DEL	G	G	-																															ccacgtagccctgttgccccGggtgccctggtgggtgagtg																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1070delC	p.Pro357ArgfsTer14	p.P357Rfs*14	ENST00000329798	1/8	41	32	9	58	58	0	sindel-varindel-pindel	FREM3,frameshift_variant,p.Pro357ArgfsTer14,ENST00000329798,NM_001168235.1;RP13-578N3.3,upstream_gene_variant,,ENST00000499587,;	-	ENST00000329798	Transcript	frameshift_variant	1070/6729	1070/6420	357/2139	P/X	cCg/cg		1		-1	FREM3	HGNC	HGNC:25172	protein_coding	YES	CCDS54808.1	ENSP00000332886	P0C091		UPI0000D615C2	NM_001168235.1			1/8		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF31,Low_complexity_(Seg):seg																	HIGH		deletion	5			1										PASS		.	.												-	7	5	7	143699606	143699606	G	-	1	0	1	0	1	0	0	0	0	5913	1116	39	0		0	FREM3	4	143699606	Frame_Shift_Del	DEL	G	C3L-00080_TP	121764	143699606	46514949	203	2414											
FAM160A1	0	.	GRCh38	chr4	151577741	151577741	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacccagtcgcaccagcctCtgctgcaccacaaacccatt	10	7	5	19	1	2	0	1	0	1	0	3	0	2	0	5	0	4	3	5	0	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.397C>T	p.=	p.L133L	ENST00000435205	5/14	330	266	64	444	444	0	strelka-varscan-mutect	FAM160A1,synonymous_variant,p.=,ENST00000435205,NM_001109977.1;FAM160A1,synonymous_variant,p.=,ENST00000505231,;FAM160A1,downstream_gene_variant,,ENST00000503146,;FAM160A1,downstream_gene_variant,,ENST00000513962,;FAM160A1,downstream_gene_variant,,ENST00000512597,;RN7SKP35,downstream_gene_variant,,ENST00000517210,;	T	ENST00000435205	Transcript	synonymous_variant	972/4576	397/3123	133/1040	L	Ctg/Ttg		1		1	FAM160A1	HGNC	HGNC:34237	protein_coding	YES	CCDS47146.1	ENSP00000413196	Q05DH4		UPI00015DE720	NM_001109977.1			5/14		Low_complexity_(Seg):seg,hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF6,Pfam_domain:PF10257																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	7	151577741	151577741	C	T	1	0	0	0	0	0	0	0	1	5317	912	32	3		3	FAM160A1	4	151577741	Silent	SNP	C	C3L-00080_TP	7878135	151577741	38636814	204	2415											
KIAA0922	0	.	GRCh38	chr4	153598602	153598602	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactacaggaataacttgacTgttattgacatgattggcgt	12	13	9	7	1	0	3	0	3	0	0	0	4	0	4	0	2	2	1	0	2	4	6	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.2136T>A	p.=	p.T712T	ENST00000409959	21/35	122	60	62	151	150	1	strelka-varscan-mutect	KIAA0922,synonymous_variant,p.=,ENST00000409663,NM_015196.3;KIAA0922,synonymous_variant,p.=,ENST00000409959,NM_001131007.1;KIAA0922,synonymous_variant,p.=,ENST00000240487,;KIAA0922,upstream_gene_variant,,ENST00000497247,;	A	ENST00000409959	Transcript	synonymous_variant	2185/5017	2136/4833	712/1610	T	acT/acA		1		1	KIAA0922	HGNC	HGNC:29146	protein_coding	YES	CCDS47148.1	ENSP00000386787	A2VDJ0		UPI00017BE9AB	NM_001131007.1			21/35		hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF2																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	7	153598602	153598602	T	A	1	0	0	0	0	0	0	0	1	8095	1567	55	4		4	KIAA0922	4	153598602	Silent	SNP	T	C3L-00080_TP	2020861	153598602	36615953	205	2416											
CLCN3	0	.	GRCh38	chr4	169689080	169689080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atagacattgctgccgattgGatgactgacctaaaggaggg	12	9	13	7	1	0	3	0	2	0	1	0	6	0	5	2	3	2	1	2	3	3	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.456G>T	p.Trp152Cys	p.W152C	ENST00000347613	5/14	271	156	115	372	372	0	strelka-varscan-mutect	CLCN3,missense_variant,p.Trp152Cys,ENST00000513761,NM_001829.3;CLCN3,missense_variant,p.Trp125Cys,ENST00000613795,NM_001243374.1;CLCN3,missense_variant,p.Trp135Cys,ENST00000504131,;CLCN3,missense_variant,p.Trp152Cys,ENST00000347613,NM_173872.3;CLCN3,missense_variant,p.Trp152Cys,ENST00000360642,NM_001243372.1;CLCN3,missense_variant,p.Trp125Cys,ENST00000507875,;CLCN3,missense_variant,p.Trp152Cys,ENST00000511092,;CLCN3,downstream_gene_variant,,ENST00000512813,;	T	ENST00000347613	Transcript	missense_variant	1010/3635	456/2601	152/866	W/C	tgG/tgT		1		1	CLCN3	HGNC	HGNC:2021	protein_coding	YES	CCDS34100.1	ENSP00000261514	P51790		UPI000015F952	NM_173872.3	deleterious(0)		5/14		Gene3D:1otsB00,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF85,Superfamily_domains:SSF81340																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	169689080	169689080	G	T	1	0	0	0	0	1	0	0	0	3228	1183	41	2		2	CLCN3	4	169689080	Missense_Mutation	SNP	G	C3L-00080_TP	16090478	169689080	20525475	206	2417											
LRRC14B	0	.	GRCh38	chr5	194957	194957	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttggcatgctgatcctgggCctgagcccctgccaccggct	4	9	13	15	1	0	2	0	2	0	0	1	2	1	2	6	3	3	4	6	3	0	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1149C>A	p.=	p.G383G	ENST00000328278	2/2	283	108	175	121	121	0	strelka-varscan-mutect	LRRC14B,synonymous_variant,p.=,ENST00000328278,NM_001080478.1;PLEKHG4B,downstream_gene_variant,,ENST00000637938,;PLEKHG4B,downstream_gene_variant,,ENST00000283426,NM_052909.3;CCDC127,downstream_gene_variant,,ENST00000296824,NM_145265.2;CTD-2083E4.7,upstream_gene_variant,,ENST00000563761,;	A	ENST00000328278	Transcript	synonymous_variant	1177/1573	1149/1545	383/514	G	ggC/ggA		1		1	LRRC14B	HGNC	HGNC:37268	protein_coding	YES	CCDS47184.1	ENSP00000327675	A6NHZ5		UPI0000237324	NM_001080478.1			2/2		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF27,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	LOW		SNV	2			1										PASS		.	.												A	2	1	7	194957	194957	C	A	1	0	0	0	0	0	0	0	1	8865	726	26	2		2	LRRC14B	5	194957	Silent	SNP	C	C3L-00080_TP		194957	181343302	207	2418											
ADAMTS16	0	.	GRCh38	chr5	5239152	5239152	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacctcatgggccctccagaGagttggatgtgacaatgtcc	9	9	12	11	0	1	2	1	1	0	1	3	5	3	3	4	2	0	1	4	2	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2156G>C	p.Arg719Thr	p.R719T	ENST00000274181	15/23	62	51	11	36	36	0	strelka-mutect	ADAMTS16,missense_variant,p.Arg719Thr,ENST00000274181,NM_139056.2;ADAMTS16,splice_region_variant,,ENST00000513709,;ADAMTS16,splice_region_variant,,ENST00000433402,;	C	ENST00000274181	Transcript	missense_variant,splice_region_variant	2294/4979	2156/3675	719/1224	R/T	aGa/aCa		1		1	ADAMTS16	HGNC	HGNC:17108	protein_coding	YES	CCDS43299.1	ENSP00000274181	Q8TE57		UPI00004572CA	NM_139056.2	tolerated(0.43)		15/23		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140,Prints_domain:PR01857																	MODERATE	1	SNV	2			1										PASS		rs1360875546	.												C	3	2	7	5239152	5239152	G	C	1	0	0	0	0	1	0	0	0	305	956	33	4		4	ADAMTS16	5	5239152	Missense_Mutation	SNP	G	C3L-00080_TP	5044195	5239152	176299107	208	2419											
ANKRD33B	0	.	GRCh38	chr5	10649561	10649561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccacatggtccggatGaccacgagcctctacagccc	9	6	10	16	2	1	1	0	1	1	0	2	4	2	3	5	3	3	0	5	3	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.933G>T	p.Met311Ile	p.M311I	ENST00000296657	4/4	243	103	140	82	82	0	strelka-varscan-mutect	ANKRD33B,missense_variant,p.Met311Ile,ENST00000296657,NM_001164440.1;ANKRD33B,3_prime_UTR_variant,,ENST00000504806,;RP11-54F2.1,downstream_gene_variant,,ENST00000508690,;	T	ENST00000296657	Transcript	missense_variant	933/9188	933/1485	311/494	M/I	atG/atT		1		1	ANKRD33B	HGNC	HGNC:35240	protein_coding	YES	CCDS47191.1	ENSP00000296657	A6NCL7		UPI00001D7EE7	NM_001164440.1	tolerated(0.27)		4/4		hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	7	10649561	10649561	G	T	1	0	0	0	0	1	0	0	0	766	1290	45	2		2	ANKRD33B	5	10649561	Missense_Mutation	SNP	G	C3L-00080_TP	5410409	10649561	170888698	209	2420											
CTNND2	0	.	GRCh38	chr5	11159683	11159683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgggggataatcaccgcGttggtcagtactgctagggc	8	9	16	8	2	2	0	2	0	0	0	2	2	2	1	1	4	2	3	1	4	3	4	rs777161615		C3L-00080_TP	C3L-00080_NB	G	G																c.2052C>A	p.Asn684Lys	p.N684K	ENST00000304623	12/22	269	221	48	127	127	0	strelka-varscan-mutect	CTNND2,missense_variant,p.Asn684Lys,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Asn593Lys,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.Asn347Lys,ENST00000503622,NM_001288716.1;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,missense_variant,p.Asn438Lys,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	T	ENST00000304623	Transcript	missense_variant	2242/5481	2052/3678	684/1225	N/K	aaC/aaA	rs777161615	1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	deleterious(0.01)		12/22		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,SMART_domains:SM00185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs777161615	.												T	3	4	7	11159683	11159683	G	T	1	0	0	0	0	1	0	0	0	3829	1136	40	1		1	CTNND2	5	11159683	Missense_Mutation	SNP	G	C3L-00080_TP	510122	11159683	170378576	210	2421											
CDH6	0	.	GRCh38	chr5	31305260	31305260	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacgatttctctacttgggGcctttcaaagattcagccac	9	12	7	13	1	3	1	2	0	1	1	4	2	3	1	3	2	2	0	3	2	2	5	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1086G>T	p.=	p.G362G	ENST00000265071	7/12	395	284	111	335	334	1	strelka-varscan-mutect	CDH6,synonymous_variant,p.=,ENST00000265071,NM_004932.3;CDH6,synonymous_variant,p.=,ENST00000514738,;CDH6,downstream_gene_variant,,ENST00000508132,;	T	ENST00000265071	Transcript	synonymous_variant	1351/8476	1086/2373	362/790	G	ggG/ggT		1		1	CDH6	HGNC	HGNC:1765	protein_coding	YES	CCDS3894.1	ENSP00000265071	P55285		UPI0000126D9B	NM_004932.3			7/12		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF322,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	7	31305260	31305260	G	T	1	0	0	0	0	0	0	0	1	2817	1190	42	2		2	CDH6	5	31305260	Silent	SNP	G	C3L-00080_TP	20145577	31305260	150232999	211	2422											
DROSHA	0	.	GRCh38	chr5	31422825	31422825	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagttctcaatgtgaaTgcccttgccagaagtcgaac	11	9	8	13	1	1	2	1	1	1	1	3	3	1	2	3	0	3	1	3	0	4	2	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.3381A>T	p.=	p.A1127A	ENST00000511367	28/35	298	203	95	253	252	1	strelka-varscan-mutect	DROSHA,synonymous_variant,p.=,ENST00000511367,NM_013235.4;DROSHA,synonymous_variant,p.=,ENST00000344624,;DROSHA,synonymous_variant,p.=,ENST00000442743,;DROSHA,synonymous_variant,p.=,ENST00000513349,NM_001100412.1;DROSHA,non_coding_transcript_exon_variant,,ENST00000510178,;DROSHA,non_coding_transcript_exon_variant,,ENST00000511778,;DROSHA,non_coding_transcript_exon_variant,,ENST00000504133,;	A	ENST00000511367	Transcript	synonymous_variant	3626/5305	3381/4125	1127/1374	A	gcA/gcT		1		-1	DROSHA	HGNC	HGNC:17904	protein_coding	YES	CCDS47195.1	ENSP00000425979	Q9NRR4		UPI0000134351	NM_013235.4			28/35		Gene3D:1.10.1520.10,HAMAP:MF_00104,PROSITE_profiles:PS50142,hmmpanther:PTHR11207,SMART_domains:SM00535,Superfamily_domains:SSF69065																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	31422825	31422825	T	A	1	0	0	0	0	0	0	0	1	4584	1451	51	4		4	DROSHA	5	31422825	Silent	SNP	T	C3L-00080_TP	117565	31422825	150115434	212	2423											
NPR3	0	.	GRCh38	chr5	32782937	32782937	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaggtcgttttgaaatgcgGccgaatgtcaaatatccttg	11	12	11	7	3	1	1	1	1	0	0	3	3	2	1	2	2	1	1	2	2	5	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1335G>T	p.=	p.R445R	ENST00000265074	6/8	170	123	47	142	142	0	strelka-varscan-mutect	NPR3,synonymous_variant,p.=,ENST00000265074,NM_001204375.1;NPR3,synonymous_variant,p.=,ENST00000326958,NM_001204376.1;NPR3,synonymous_variant,p.=,ENST00000434067,;NPR3,synonymous_variant,p.=,ENST00000415167,NM_000908.3;NPR3,synonymous_variant,p.=,ENST00000509104,;NPR3,non_coding_transcript_exon_variant,,ENST00000506712,;	T	ENST00000265074	Transcript	synonymous_variant	1678/7344	1335/1626	445/541	R	cgG/cgT		1		1	NPR3	HGNC	HGNC:7945	protein_coding	YES	CCDS56357.1	ENSP00000265074	P17342		UPI0000125B46	NM_001204375.1			6/8		hmmpanther:PTHR11920:SF302,hmmpanther:PTHR11920																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	32782937	32782937	G	T	1	0	0	0	0	0	0	0	1	10652	1190	42	2		2	NPR3	5	32782937	Silent	SNP	G	C3L-00080_TP	1360112	32782937	148755322	213	2424											
SPEF2	0	.	GRCh38	chr5	35641546	35641546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcacagaaaagcctggggtgGcaacaaagctgttatatcaa	15	8	10	8	0	2	1	2	0	0	1	2	1	2	1	1	3	3	3	1	3	7	2	rs149043842		C3L-00080_TP	C3L-00080_NB	G	G																c.277G>T	p.Ala93Ser	p.A93S	ENST00000356031	3/37	418	300	118	371	370	1	strelka-varscan-mutect	SPEF2,missense_variant,p.Ala93Ser,ENST00000637569,;SPEF2,missense_variant,p.Ala93Ser,ENST00000440995,;SPEF2,missense_variant,p.Ala93Ser,ENST00000356031,NM_024867.3;SPEF2,missense_variant,p.Ala93Ser,ENST00000509059,;SPEF2,missense_variant,p.Ala93Ser,ENST00000282469,NM_144722.3;SPEF2,missense_variant,p.Ala93Ser,ENST00000510777,;SPEF2,non_coding_transcript_exon_variant,,ENST00000505847,;SPEF2,non_coding_transcript_exon_variant,,ENST00000505088,;SPEF2,upstream_gene_variant,,ENST00000502454,;	T	ENST00000356031	Transcript	missense_variant	431/5681	277/5469	93/1822	A/S	Gca/Tca	rs149043842	1		1	SPEF2	HGNC	HGNC:26293	protein_coding	YES	CCDS43309.1	ENSP00000348314	Q9C093	A0A140VKD0	UPI0001505B9F	NM_024867.3	deleterious(0)		3/37		Pfam_domain:PF06294,PROSITE_profiles:PS50021,hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0																	MODERATE	1	SNV	2			1										PASS		rs149043842	.												T	3	4	7	35641546	35641546	G	T	1	0	0	0	0	1	0	0	0	15386	1203	42	2		2	SPEF2	5	35641546	Missense_Mutation	SNP	G	C3L-00080_TP	2858609	35641546	145896713	214	2425											
SLC1A3	0	.	GRCh38	chr5	36677000	36677000	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccatggagactcttaccCgaatcacagaggagctggtc	11	7	12	11	1	2	2	1	0	1	2	3	5	2	3	2	4	2	1	2	4	2	1	rs201069745		C3L-00080_TP	C3L-00080_NB	C	C																c.676C>A	p.=	p.R226R	ENST00000265113	6/10	395	277	118	324	324	0	strelka-varscan-mutect	SLC1A3,synonymous_variant,p.=,ENST00000265113,NM_004172.4;SLC1A3,synonymous_variant,p.=,ENST00000613445,NM_001289939.1;SLC1A3,synonymous_variant,p.=,ENST00000381918,NM_001166695.2;SLC1A3,intron_variant,,ENST00000612708,NM_001289940.1;CTD-2353F22.1,intron_variant,,ENST00000510740,;SLC1A3,non_coding_transcript_exon_variant,,ENST00000505376,;SLC1A3,upstream_gene_variant,,ENST00000506178,;	A	ENST00000265113	Transcript	synonymous_variant	1152/4170	676/1629	226/542	R	Cga/Aga	rs201069745	1		1	SLC1A3	HGNC	HGNC:10941	protein_coding	YES	CCDS3919.1	ENSP00000265113	P43003	A0A024R050	UPI0000129B0F	NM_004172.4			6/10		hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF24,Pfam_domain:PF00375																	LOW	1	SNV	1			1										PASS		rs201069745	.												A	2	1	7	36677000	36677000	C	A	1	0	0	0	0	0	0	0	1	14699	644	23	1		1	SLC1A3	5	36677000	Silent	SNP	C	C3L-00080_TP	1035454	36677000	144861259	215	2426											
NIPBL	0	.	GRCh38	chr5	37064729	37064729	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggctcctggactgaggCtaagcgccgtgatggccgca	7	7	15	12	3	0	2	0	2	0	0	1	3	1	3	3	4	1	3	3	4	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.8252C>G	p.Ala2751Gly	p.A2751G	ENST00000282516	47/47	263	216	47	189	189	0	strelka-varscan-mutect	NIPBL,missense_variant,p.Ala2751Gly,ENST00000282516,NM_133433.3;NIPBL,missense_variant,p.Ala51Gly,ENST00000621733,;NIPBL,downstream_gene_variant,,ENST00000448238,NM_015384.4;NIPBL,downstream_gene_variant,,ENST00000513819,;NIPBL,non_coding_transcript_exon_variant,,ENST00000514335,;	G	ENST00000282516	Transcript	missense_variant	8751/10435	8252/8415	2751/2804	A/G	gCt/gGt		1		1	NIPBL	HGNC	HGNC:28862	protein_coding	YES	CCDS3920.1	ENSP00000282516	Q6KC79		UPI00003761B5	NM_133433.3	deleterious_low_confidence(0.01)		47/47		hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	37064729	37064729	C	G	1	0	0	0	0	1	0	0	0	10463	797	28	4		4	NIPBL	5	37064729	Missense_Mutation	SNP	C	C3L-00080_TP	387729	37064729	144473530	216	2427											
PTGER4	0	.	GRCh38	chr5	40692058	40692058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcgctccttcatctccCgggagctgaaggagatcagc	8	9	10	14	2	4	2	2	1	2	1	7	4	5	3	2	2	2	2	2	2	1	1	rs199975495		C3L-00080_TP	C3L-00080_NB	C	C																c.1147C>T	p.Arg383Trp	p.R383W	ENST00000302472	3/3	312	220	92	231	231	0	strelka-varscan-mutect	PTGER4,missense_variant,p.Arg383Trp,ENST00000302472,NM_000958.2;TTC33,intron_variant,,ENST00000636106,;TTC33,intron_variant,,ENST00000637375,;TTC33,intron_variant,,ENST00000636863,;PTGER4,downstream_gene_variant,,ENST00000512578,;PTGER4,downstream_gene_variant,,ENST00000513635,;	T	ENST00000302472	Transcript	missense_variant	2171/3848	1147/1467	383/488	R/W	Cgg/Tgg	rs199975495,COSM5339464	1		1	PTGER4	HGNC	HGNC:9596	protein_coding	YES	CCDS3930.1	ENSP00000302846	P35408		UPI000005042F	NM_000958.2	deleterious(0.04)		3/3		hmmpanther:PTHR11866:SF6,hmmpanther:PTHR11866											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs199975495	.												T	3	4	7	40692058	40692058	C	T	1	0	0	0	0	1	0	0	0	12900	643	23	1		1	PTGER4	5	40692058	Missense_Mutation	SNP	C	C3L-00080_TP	3627329	40692058	140846201	217	2428											
GHR	0	.	GRCh38	chr5	42718854	42718854	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcagcagcccagtgttatCcaagcagagaaaaacaaacc	17	5	7	12	0	1	1	1	0	0	1	2	2	2	1	3	0	5	3	3	0	5	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1368C>A	p.=	p.I456I	ENST00000620156	10/10	293	201	92	272	271	1	strelka-varscan-mutect	GHR,synonymous_variant,p.=,ENST00000615111,NM_001242400.2;GHR,synonymous_variant,p.=,ENST00000612382,NM_001242403.2;GHR,synonymous_variant,p.=,ENST00000230882,NM_000163.4;GHR,synonymous_variant,p.=,ENST00000620156,NM_001242399.2;GHR,synonymous_variant,p.=,ENST00000612626,NM_001242404.2;GHR,synonymous_variant,p.=,ENST00000618088,NM_001242401.3,NM_001242402.2,NM_001242406.2;GHR,synonymous_variant,p.=,ENST00000537449,NM_001242405.2;GHR,synonymous_variant,p.=,ENST00000357703,NM_001242460.1;GHR,3_prime_UTR_variant,,ENST00000622294,NM_001242462.1;GHR,downstream_gene_variant,,ENST00000513625,;GHR,3_prime_UTR_variant,,ENST00000511135,;	A	ENST00000620156	Transcript	synonymous_variant	1505/4529	1368/1938	456/645	I	atC/atA		1		1	GHR	HGNC	HGNC:4263	protein_coding	YES	CCDS75239.1	ENSP00000483403		A0A087X0H5	UPI0002104C22	NM_001242399.2			10/10		hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF108,Pfam_domain:PF12772																	LOW	1	SNV	5			1										PASS		rs1049383599	.												A	2	1	7	42718854	42718854	C	A	1	0	0	0	0	0	0	0	1	6249	845	30	2		2	GHR	5	42718854	Silent	SNP	C	C3L-00080_TP	2026796	42718854	138819405	218	2429											
OTP	0	.	GRCh38	chr5	77636998	77636998	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccggcttggctggggttCgggccgccctggggcccggg	0	7	21	13	4	0	0	0	0	0	0	1	0	0	0	4	9	0	3	4	9	0	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.270G>A	p.=	p.P90P	ENST00000306422	2/3	130	100	30	133	133	0	strelka-varscan-mutect	OTP,synonymous_variant,p.=,ENST00000306422,NM_032109.2;OTP,upstream_gene_variant,,ENST00000515716,;	T	ENST00000306422	Transcript	synonymous_variant	1409/3669	270/978	90/325	P	ccG/ccA		1		-1	OTP	HGNC	HGNC:8518	protein_coding	YES	CCDS4039.1	ENSP00000302814	Q5XKR4		UPI0000021CAA	NM_032109.2			2/3		Gene3D:1.10.10.60,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF316,Low_complexity_(Seg):seg,Superfamily_domains:SSF46689																	LOW	1	SNV	1			1										PASS		rs1417485043	.												T	2	4	7	77636998	77636998	C	T	1	0	0	0	0	0	0	0	1	11378	871	31	1		1	OTP	5	77636998	Silent	SNP	C	C3L-00080_TP	34918144	77636998	103901261	219	2430											
VCAN	0	.	GRCh38	chr5	83539499	83539499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacaaagaaaacttacagtGatgataaagaaatgaaggag	22	6	9	4	0	0	5	0	3	0	2	0	6	0	6	0	1	3	0	0	1	9	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.6496G>A	p.Asp2166Asn	p.D2166N	ENST00000265077	8/15	64	40	24	121	121	0	strelka-varscan-mutect	VCAN,missense_variant,p.Asp2166Asn,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Asp1179Asn,ENST00000343200,NM_001164097.1;VCAN,missense_variant,p.Asp1179Asn,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	A	ENST00000265077	Transcript	missense_variant	7061/12625	6496/10191	2166/3396	D/N	Gat/Aat		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	tolerated(0.36)		8/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	83539499	83539499	G	A	1	0	0	0	0	1	0	0	0	17683	1290	45	3		3	VCAN	5	83539499	Missense_Mutation	SNP	G	C3L-00080_TP	5902501	83539499	97998760	220	2431											
RASA1	0	.	GRCh38	chr5	87389500	87389508	+	In_Frame_Del	DEL	GCTCAGTAA	GCTCAGTAA	-																															cattcagatgaacttcgaacGctcagtaatgagcgtggtgc																								novel		C3L-00080_TP	C3L-00080_NB	GCTCAGTAA	GCTCAGTAA																c.3033_3041delGCTCAGTAA	p.Leu1012_Asn1014del	p.L1012_N1014del	ENST00000274376	24/25	253	155	98	359	358	1	sindel-varindel-pindel	RASA1,inframe_deletion,p.Leu835_Asn837del,ENST00000456692,NM_022650.2;RASA1,inframe_deletion,p.Leu1012_Asn1014del,ENST00000274376,NM_002890.2;RASA1,inframe_deletion,p.Leu845_Asn847del,ENST00000512763,;RASA1,inframe_deletion,p.Leu846_Asn848del,ENST00000506290,;CCNH,downstream_gene_variant,,ENST00000508855,;CCNH,downstream_gene_variant,,ENST00000504878,NM_001199189.1;CCNH,downstream_gene_variant,,ENST00000256897,NM_001239.3;CCNH,downstream_gene_variant,,ENST00000510921,;RASA1,3_prime_UTR_variant,,ENST00000515800,;CCNH,downstream_gene_variant,,ENST00000505587,;CCNH,downstream_gene_variant,,ENST00000504115,;CCNH,downstream_gene_variant,,ENST00000511207,;	-	ENST00000274376	Transcript	inframe_deletion	3597-3605/3752	3033-3041/3144	1011-1014/1047	TLSN/T	acGCTCAGTAAt/act		1		1	RASA1	HGNC	HGNC:9871	protein_coding	YES	CCDS34200.1	ENSP00000274376	P20936		UPI00001351F3	NM_002890.2			24/25		hmmpanther:PTHR10194:SF19,hmmpanther:PTHR10194,SMART_domains:SM00323,Superfamily_domains:SSF48350																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	7	87389500	87389500	GCTCAGTAA	-	1	0	1	0	1	0	0	0	0	13219	1074	38	0		0	RASA1	5	87389500	In_Frame_Del	DEL	GCTCAGTAA	C3L-00080_TP	3850001	87389500	94148759	221	2432											
FBN2	0	.	GRCh38	chr5	128290782	128290782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccccagccctctcctGgcatcttactacagcagcat	7	9	7	18	0	2	0	0	0	2	0	4	0	3	0	5	2	5	3	5	2	2	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.6395C>T	p.Pro2132Leu	p.P2132L	ENST00000508053	56/71	241	181	60	261	261	0	strelka-varscan-mutect	FBN2,missense_variant,p.Pro2132Leu,ENST00000508053,;FBN2,missense_variant,p.Pro2132Leu,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Pro2131Leu,ENST00000619499,;	A	ENST00000508053	Transcript	missense_variant	7370/11132	6395/8739	2132/2912	P/L	cCa/cTa		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		deleterious(0)		56/71		Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,Superfamily_domains:SSF57581																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	7	128290782	128290782	G	A	1	0	0	0	0	1	0	0	0	5566	1348	47	3		3	FBN2	5	128290782	Missense_Mutation	SNP	G	C3L-00080_TP	40901282	128290782	53247477	222	2433											
ADAMTS19	0	.	GRCh38	chr5	129654318	129654318	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtatgtagaaaaaccatgtgCcttgttttgctctcctgttg	8	16	9	8	0	1	1	0	0	1	1	2	1	1	1	3	0	3	5	3	0	4	6	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2171C>G	p.Ala724Gly	p.A724G	ENST00000274487	14/23	109	55	54	156	156	0	strelka-varscan-mutect	ADAMTS19,missense_variant,p.Ala724Gly,ENST00000274487,NM_133638.3;CTC-575N7.1,intron_variant,,ENST00000503616,;	G	ENST00000274487	Transcript	missense_variant	2316/5234	2171/3624	724/1207	A/G	gCc/gGc		1		1	ADAMTS19	HGNC	HGNC:17111	protein_coding	YES	CCDS4146.1	ENSP00000274487	Q8TE59		UPI000013DA0D	NM_133638.3	tolerated(0.07)		14/23		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF197																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	129654318	129654318	C	G	1	0	0	0	0	1	0	0	0	308	739	26	4		4	ADAMTS19	5	129654318	Missense_Mutation	SNP	C	C3L-00080_TP	1363536	129654318	51883941	223	2434											
GFRA3	0	.	GRCh38	chr5	138257699	138257699	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagttgggggccacaggcGgcagcgcgcagttgggggcg	5	4	22	10	4	0	0	0	0	0	0	0	0	0	0	1	7	1	5	1	7	0	2	rs573286530		C3L-00080_TP	C3L-00080_NB	G	G																c.725C>G	p.Pro242Arg	p.P242R	ENST00000274721	4/8	190	163	27	136	135	1	strelka-varscan-mutect	GFRA3,missense_variant,p.Pro242Arg,ENST00000274721,NM_001496.3;GFRA3,missense_variant,p.Pro211Arg,ENST00000378362,;	C	ENST00000274721	Transcript	missense_variant	972/2039	725/1203	242/400	P/R	cCg/cGg	rs573286530	1		-1	GFRA3	HGNC	HGNC:4245	protein_coding	YES	CCDS4201.1	ENSP00000274721	O60609		UPI0000030833	NM_001496.3	deleterious(0.03)		4/8		hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF15																	MODERATE	1	SNV	1			1										PASS		rs573286530	.												C	3	2	7	138257699	138257699	G	C	1	0	0	0	0	1	0	0	0	6223	1116	39	4		4	GFRA3	5	138257699	Missense_Mutation	SNP	G	C3L-00080_TP	8603381	138257699	43280560	224	2435											
HARS2	0	.	GRCh38	chr5	140695568	140695568	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgaaacgttatcatgttGgaaaggtgtggcggcgagag	12	9	16	4	3	1	3	1	1	0	2	1	5	1	4	0	4	1	2	0	4	3	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.460G>T	p.Gly154Ter	p.G154*	ENST00000230771	5/13	666	467	199	527	527	0	strelka-varscan-mutect	HARS2,stop_gained,p.Gly154Ter,ENST00000230771,NM_012208.3;HARS2,stop_gained,p.Gly129Ter,ENST00000508522,NM_001278731.1;HARS2,stop_gained,p.Gly160Ter,ENST00000509299,;HARS2,intron_variant,,ENST00000448069,;HARS,upstream_gene_variant,,ENST00000504156,NM_001289094.1,NM_002109.5;HARS,upstream_gene_variant,,ENST00000457527,NM_001258041.2;HARS,upstream_gene_variant,,ENST00000438307,NM_001258040.2;HARS,upstream_gene_variant,,ENST00000307633,NM_001258042.2;HARS,upstream_gene_variant,,ENST00000431330,NM_001289093.1;ZMAT2,upstream_gene_variant,,ENST00000274712,NM_144723.1;HARS,upstream_gene_variant,,ENST00000415192,NM_001289092.1;HARS,upstream_gene_variant,,ENST00000507746,;HARS2,downstream_gene_variant,,ENST00000503873,;ZMAT2,upstream_gene_variant,,ENST00000519913,;HARS2,non_coding_transcript_exon_variant,,ENST00000502303,;HARS2,3_prime_UTR_variant,,ENST00000510104,;HARS2,non_coding_transcript_exon_variant,,ENST00000513688,;HARS2,intron_variant,,ENST00000520095,;HARS,upstream_gene_variant,,ENST00000506579,;HARS,upstream_gene_variant,,ENST00000518126,;ZMAT2,upstream_gene_variant,,ENST00000506644,;HARS,upstream_gene_variant,,ENST00000502888,;HARS2,downstream_gene_variant,,ENST00000511913,;HARS2,downstream_gene_variant,,ENST00000506318,;HARS,upstream_gene_variant,,ENST00000512396,;HARS2,downstream_gene_variant,,ENST00000513912,;	T	ENST00000230771	Transcript	stop_gained	683/2483	460/1521	154/506	G/*	Gga/Tga		1		1	HARS2	HGNC	HGNC:4817	protein_coding	YES	CCDS4238.1	ENSP00000230771	P49590		UPI00001364C4	NM_012208.3			5/13		Gene3D:3.30.930.10,Pfam_domain:PF13393,PIRSF_domain:PIRSF001549,PROSITE_profiles:PS50862,hmmpanther:PTHR11476,hmmpanther:PTHR11476:SF6,Superfamily_domains:SSF55681,TIGRFAM_domain:TIGR00442																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	7	140695568	140695568	G	T	1	0	0	0	0	0	1	0	0	6846	1349	47	2		2	HARS2	5	140695568	Nonsense_Mutation	SNP	G	C3L-00080_TP	2437869	140695568	40842691	225	2436											
PCDHA1	0	.	GRCh38	chr5	140787902	140787902	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttccaggtgagcgcgCgggatgcgggcgtgccgcct	4	7	18	12	6	0	1	0	1	0	0	1	2	1	2	3	3	4	2	3	3	0	1			C3L-00080_TP	C3L-00080_NB	C	C																c.1612C>A	p.=	p.R538R	ENST00000504120	1/4	894	630	264	711	711	0	strelka-varscan-mutect	PCDHA1,synonymous_variant,p.=,ENST00000504120,NM_018900.3;PCDHA1,synonymous_variant,p.=,ENST00000378133,NM_031410.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,downstream_gene_variant,,ENST00000624712,;AC005609.16,downstream_gene_variant,,ENST00000624176,;	A	ENST00000504120	Transcript	synonymous_variant	1612/5263	1612/2853	538/950	R	Cgg/Agg	COSM5113494,COSM5113495	1		1	PCDHA1	HGNC	HGNC:8663	protein_coding	YES	CCDS54913.1	ENSP00000420840	Q9Y5I3		UPI00001273C7	NM_018900.3			1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	7	140787902	140787902	C	A	1	0	0	0	0	0	0	0	1	11606	759	27	1		1	PCDHA1	5	140787902	Silent	SNP	C	C3L-00080_TP	92334	140787902	40750357	226	2437											
PCDHA3	0	.	GRCh38	chr5	140802199	140802199	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccaatgtcagatcactgCacagttctactcgaaattgt	11	11	6	13	1	3	1	2	0	1	1	4	2	3	1	2	0	2	2	2	0	3	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1002C>A	p.Cys334Ter	p.C334*	ENST00000522353	1/4	487	342	145	414	414	0	strelka-varscan-mutect	PCDHA3,stop_gained,p.Cys334Ter,ENST00000522353,NM_018906.2;PCDHA3,stop_gained,p.Cys334Ter,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA4,upstream_gene_variant,,ENST00000618834,NM_031500.2;PCDHA4,upstream_gene_variant,,ENST00000530339,NM_018907.3;PCDHA4,upstream_gene_variant,,ENST00000512229,;PCDHA2,downstream_gene_variant,,ENST00000378132,NM_031495.1;PCDHA4,upstream_gene_variant,,ENST00000378125,;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,upstream_gene_variant,,ENST00000624176,;	A	ENST00000522353	Transcript	stop_gained	1002/5260	1002/2853	334/950	C/*	tgC/tgA		1		1	PCDHA3	HGNC	HGNC:8669	protein_coding	YES	CCDS54915.1	ENSP00000429808	Q9Y5H8		UPI00001273CB	NM_018906.2			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	7	140802199	140802199	C	A	1	0	0	0	0	0	1	0	0	11612	718	25	2		2	PCDHA3	5	140802199	Nonsense_Mutation	SNP	C	C3L-00080_TP	14297	140802199	40736060	227	2438											
PCDHA3	0	.	GRCh38	chr5	140803449	140803449	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggagctggtcatactCgcagcagaggcagcagaggg	9	5	19	8	1	1	2	1	0	0	2	2	3	1	3	0	6	4	5	0	6	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2252C>A	p.Ser751Ter	p.S751*	ENST00000522353	1/4	355	254	101	241	241	0	strelka-varscan-mutect	PCDHA3,stop_gained,p.Ser751Ter,ENST00000522353,NM_018906.2;PCDHA3,stop_gained,p.Ser751Ter,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA4,upstream_gene_variant,,ENST00000618834,NM_031500.2;PCDHA4,upstream_gene_variant,,ENST00000530339,NM_018907.3;PCDHA4,upstream_gene_variant,,ENST00000512229,;PCDHA4,upstream_gene_variant,,ENST00000378125,;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,upstream_gene_variant,,ENST00000624176,;	A	ENST00000522353	Transcript	stop_gained	2252/5260	2252/2853	751/950	S/*	tCg/tAg		1		1	PCDHA3	HGNC	HGNC:8669	protein_coding	YES	CCDS54915.1	ENSP00000429808	Q9Y5H8		UPI00001273CB	NM_018906.2			1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93																	HIGH	1	SNV	1			1										PASS		rs1214042918	.												A	4	1	7	140803449	140803449	C	A	1	0	0	0	0	0	1	0	0	11612	893	31	1		1	PCDHA3	5	140803449	Nonsense_Mutation	SNP	C	C3L-00080_TP	1250	140803449	40734810	228	2439											
PCDHA8	0	.	GRCh38	chr5	140843066	140843066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcgagcaagctggtgcCgcggtctgtgggcgcgggcc	4	5	19	13	6	1	0	0	0	1	0	1	1	1	0	2	4	4	3	2	4	1	0	rs782077054		C3L-00080_TP	C3L-00080_NB	C	C																c.1745C>T	p.Pro582Leu	p.P582L	ENST00000531613	1/4	636	544	92	471	471	0	strelka-varscan-mutect	PCDHA8,missense_variant,p.Pro582Leu,ENST00000531613,NM_018911.2;PCDHA8,missense_variant,p.Pro582Leu,ENST00000378123,NM_031856.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA9,upstream_gene_variant,,ENST00000378122,NM_014005.4;PCDHA9,upstream_gene_variant,,ENST00000532602,NM_031857.1;	T	ENST00000531613	Transcript	missense_variant	1745/5260	1745/2853	582/950	P/L	cCg/cTg	rs782077054,COSM590069,COSM590070	1		1	PCDHA8	HGNC	HGNC:8674	protein_coding	YES	CCDS54919.1	ENSP00000434655	Q9Y5H6		UPI00001273D0	NM_018911.2	tolerated_low_confidence(0.06)		1/4		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF125,Superfamily_domains:SSF49313											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs782077054	.												T	3	4	7	140843066	140843066	C	T	1	0	0	0	0	1	0	0	0	11617	652	23	1		1	PCDHA8	5	140843066	Missense_Mutation	SNP	C	C3L-00080_TP	39617	140843066	40695193	229	2440											
PCDHA9	0	.	GRCh38	chr5	140850481	140850481	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccagcgctgacggccacGgccactgtgctggtgtcgct	5	7	15	14	4	0	1	0	1	0	0	1	2	0	1	3	3	3	3	3	3	0	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1986G>T	p.=	p.T662T	ENST00000532602	1/4	564	387	177	361	359	2	strelka-varscan-mutect	PCDHA9,synonymous_variant,p.=,ENST00000378122,NM_014005.4;PCDHA9,synonymous_variant,p.=,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.19,upstream_gene_variant,,ENST00000623320,;	T	ENST00000532602	Transcript	synonymous_variant	3019/6293	1986/2853	662/950	T	acG/acT		1		1	PCDHA9	HGNC	HGNC:8675	protein_coding	YES	CCDS54920.1	ENSP00000436042	Q9Y5H5		UPI00001273D1	NM_031857.1			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	140850481	140850481	G	T	1	0	0	0	0	0	0	0	1	11618	1103	39	1		1	PCDHA9	5	140850481	Silent	SNP	G	C3L-00080_TP	7415	140850481	40687778	230	2441											
PCDHA10	0	.	GRCh38	chr5	140857864	140857864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctggatacaacgcgtggCtgtcgtatgaattgcagtcg	9	11	12	9	4	1	1	0	1	1	0	3	2	1	2	0	2	3	3	0	2	4	3	rs782625866		C3L-00080_TP	C3L-00080_NB	C	C																c.1816C>A	p.Leu606Met	p.L606M	ENST00000307360	1/4	235	171	64	182	182	0	strelka-varscan-mutect	PCDHA10,missense_variant,p.Leu606Met,ENST00000562220,NM_031859.2;PCDHA10,missense_variant,p.Leu606Met,ENST00000307360,NM_018901.3;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA9,downstream_gene_variant,,ENST00000378122,NM_014005.4;PCDHA14,upstream_gene_variant,,ENST00000506751,;	A	ENST00000307360	Transcript	missense_variant	1816/5254	1816/2847	606/948	L/M	Ctg/Atg	rs782625866	1		1	PCDHA10	HGNC	HGNC:8664	protein_coding	YES	CCDS54921.1	ENSP00000304234	Q9Y5I2		UPI00001273D3	NM_018901.3	deleterious_low_confidence(0.01)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF124,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs782625866	.												A	3	1	7	140857864	140857864	C	A	1	0	0	0	0	1	0	0	0	11607	796	28	2		2	PCDHA10	5	140857864	Missense_Mutation	SNP	C	C3L-00080_TP	7383	140857864	40680395	231	2442											
PCDHA10	0	.	GRCh38	chr5	140858078	140858078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagccaggcacccaaggCctcgtcgcgggcttcagtgg	6	5	16	14	3	1	0	1	0	0	0	3	0	1	0	3	5	1	3	3	5	1	1	rs782110139		C3L-00080_TP	C3L-00080_NB	C	C																c.2030C>A	p.Ala677Asp	p.A677D	ENST00000307360	1/4	262	174	88	194	194	0	strelka-varscan-mutect	PCDHA10,missense_variant,p.Ala677Asp,ENST00000562220,NM_031859.2;PCDHA10,missense_variant,p.Ala677Asp,ENST00000307360,NM_018901.3;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA9,downstream_gene_variant,,ENST00000378122,NM_014005.4;PCDHA14,upstream_gene_variant,,ENST00000506751,;	A	ENST00000307360	Transcript	missense_variant	2030/5254	2030/2847	677/948	A/D	gCc/gAc	rs782110139	1		1	PCDHA10	HGNC	HGNC:8664	protein_coding	YES	CCDS54921.1	ENSP00000304234	Q9Y5I2		UPI00001273D3	NM_018901.3	deleterious_low_confidence(0.01)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF124																	MODERATE	1	SNV	1			1										PASS		rs782110139	.												A	3	1	7	140858078	140858078	C	A	1	0	0	0	0	1	0	0	0	11607	739	26	2		2	PCDHA10	5	140858078	Missense_Mutation	SNP	C	C3L-00080_TP	214	140858078	40680181	232	2443											
PCDHA11	0	.	GRCh38	chr5	140869981	140869981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatggaagacacttatttaCactagatcaaaataatggag	18	10	7	6	0	1	2	1	0	0	2	1	4	1	4	0	2	1	0	0	2	8	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.878C>T	p.Thr293Ile	p.T293I	ENST00000398640	1/4	193	163	30	151	151	0	strelka-varscan-mutect	PCDHA11,missense_variant,p.Thr293Ile,ENST00000398640,NM_018902.4;PCDHA11,missense_variant,p.Thr293Ile,ENST00000616325,NM_031861.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA10,downstream_gene_variant,,ENST00000562220,NM_031859.2;PCDHA11,upstream_gene_variant,,ENST00000617408,;AC005609.20,upstream_gene_variant,,ENST00000625071,;	T	ENST00000398640	Transcript	missense_variant	1736/6115	878/2850	293/949	T/I	aCa/aTa		1		1	PCDHA11	HGNC	HGNC:8665	protein_coding	YES	CCDS47284.1	ENSP00000381636	Q9Y5I1		UPI00001273D4	NM_018902.4	tolerated_low_confidence(0.42)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	140869981	140869981	C	T	1	0	0	0	0	1	0	0	0	11608	478	17	3		3	PCDHA11	5	140869981	Missense_Mutation	SNP	C	C3L-00080_TP	11903	140869981	40668278	233	2444											
PCDHB3	0	.	GRCh38	chr5	141101330	141101330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggtctgggacagcccaGataaacatccaggtcttaga	11	8	10	12	1	2	2	0	0	2	2	4	3	3	3	3	3	2	0	3	3	3	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.681G>T	p.Gln227His	p.Q227H	ENST00000231130	1/1	194	139	55	190	190	0	strelka-varscan-mutect	PCDHB3,missense_variant,p.Gln227His,ENST00000231130,NM_018937.4;PCDHB2,downstream_gene_variant,,ENST00000194155,NM_018936.3;PCDHB2,downstream_gene_variant,,ENST00000622947,;PCDHB3,upstream_gene_variant,,ENST00000624513,;PCDHB2,downstream_gene_variant,,ENST00000624994,;AC005754.7,intron_variant,,ENST00000607216,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;CTC-270D5.1,upstream_gene_variant,,ENST00000623615,;CTC-270D5.1,upstream_gene_variant,,ENST00000623741,;	T	ENST00000231130	Transcript	missense_variant	858/3355	681/2391	227/796	Q/H	caG/caT		1		1	PCDHB3	HGNC	HGNC:8688	protein_coding	YES	CCDS4245.1	ENSP00000231130	Q9Y5E6		UPI0003CC25DF	NM_018937.4	tolerated_low_confidence(0.14)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												T	3	4	7	141101330	141101330	G	T	1	0	0	0	0	1	0	0	0	11630	933	33	2		2	PCDHB3	5	141101330	Missense_Mutation	SNP	G	C3L-00080_TP	231349	141101330	40436929	234	2445											
PCDHB9	0	.	GRCh38	chr5	141189495	141189495	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcggtgggtcgctgctCggtgcccgagggtccttttc	1	11	16	13	4	0	0	0	0	0	0	5	1	1	0	3	5	2	2	3	5	0	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2177C>A	p.Ser726Ter	p.S726*	ENST00000316105	1/1	322	217	105	234	234	0	strelka-varscan-mutect	PCDHB9,stop_gained,p.Ser726Ter,ENST00000316105,NM_019119.4;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000624909,;CH17-140K24.5,downstream_gene_variant,,ENST00000623884,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.6,downstream_gene_variant,,ENST00000625144,;PCDHB9,downstream_gene_variant,,ENST00000623266,;CH17-140K24.5,downstream_gene_variant,,ENST00000623407,;	A	ENST00000316105	Transcript	stop_gained	2369/4415	2177/2394	726/797	S/*	tCg/tAg		1		1	PCDHB9	HGNC	HGNC:8694	protein_coding	YES	CCDS75328.1	ENSP00000478606	Q9Y5E1		UPI00005764A0	NM_019119.4			1/1		hmmpanther:PTHR24028:SF128,hmmpanther:PTHR24028,Pfam_domain:PF16492																	HIGH		SNV				1										PASS		.	.												A	4	1	7	141189495	141189495	C	A	1	0	0	0	0	0	1	0	0	11636	893	31	1		1	PCDHB9	5	141189495	Nonsense_Mutation	SNP	C	C3L-00080_TP	88165	141189495	40348764	235	2446											
PCDHB14	0	.	GRCh38	chr5	141225278	141225278	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgaccaaggtggtggcGgtggacggcgactcgggcca	6	6	19	10	4	0	1	0	1	0	0	1	3	0	2	2	8	0	0	2	8	1	0	rs782044670		C3L-00080_TP	C3L-00080_NB	G	G																c.1773G>A	p.=	p.A591A	ENST00000239449	1/1	253	154	99	167	167	0	strelka-varscan-mutect	PCDHB14,synonymous_variant,p.=,ENST00000239449,NM_018934.3;PCDHB14,synonymous_variant,p.=,ENST00000624896,;CH17-140K24.8,intron_variant,,ENST00000624396,;CH17-140K24.2,intron_variant,,ENST00000624192,;	A	ENST00000239449	Transcript	synonymous_variant	2347/4828	1773/2397	591/798	A	gcG/gcA	rs782044670	1		1	PCDHB14	HGNC	HGNC:8685	protein_coding	YES	CCDS4256.1	ENSP00000239449	Q9Y5E9		UPI00001273E7	NM_018934.3			1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW		SNV				1										PASS		rs782044670	.												A	2	1	7	141225278	141225278	G	A	1	0	0	0	0	0	0	0	1	11626	1103	39	1		1	PCDHB14	5	141225278	Silent	SNP	G	C3L-00080_TP	35783	141225278	40312981	236	2447											
PCDHB15	0	.	GRCh38	chr5	141245746	141245746	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgacctagggctgggagtGggggagctagccgagcgggg	8	5	21	7	2	0	1	0	1	0	0	0	4	0	3	2	6	3	2	2	6	3	2	rs376867312		C3L-00080_TP	C3L-00080_NB	G	G																c.168G>A	p.=	p.V56V	ENST00000231173	1/1	335	235	100	268	268	0	strelka-varscan-mutect	PCDHB15,synonymous_variant,p.=,ENST00000231173,NM_018935.3;CH17-140K24.8,3_prime_UTR_variant,,ENST00000624396,;PCDHB15,intron_variant,,ENST00000623671,;CH17-140K24.2,upstream_gene_variant,,ENST00000624424,;CH17-140K24.2,upstream_gene_variant,,ENST00000624192,;CH17-140K24.2,upstream_gene_variant,,ENST00000624560,;CH17-140K24.2,upstream_gene_variant,,ENST00000623336,;CH17-140K24.2,upstream_gene_variant,,ENST00000624991,;PCDHB19P,downstream_gene_variant,,ENST00000625133,;PCDHB19P,downstream_gene_variant,,ENST00000570871,;	A	ENST00000231173	Transcript	synonymous_variant	398/4017	168/2364	56/787	V	gtG/gtA	rs376867312	1		1	PCDHB15	HGNC	HGNC:8686	protein_coding	YES	CCDS4257.1	ENSP00000231173	Q9Y5E8		UPI00001273E8	NM_018935.3			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF97,Pfam_domain:PF08266,Superfamily_domains:SSF49313																	LOW		SNV				1										PASS		rs376867312	.												A	2	1	7	141245746	141245746	G	A	1	0	0	0	0	0	0	0	1	11627	1335	47	3		3	PCDHB15	5	141245746	Silent	SNP	G	C3L-00080_TP	20468	141245746	40292513	237	2448											
PCDHGA6	0	.	GRCh38	chr5	141376342	141376342	+	Frame_Shift_Del	DEL	T	T	-																															cgggctttcctgcagacctaTtcccacgaggtctcactcac																								novel		C3L-00080_TP	C3L-00080_NB	T	T																c.2260delT	p.Ser754ProfsTer15	p.S754Pfs*15	ENST00000517434	1/4	470	332	138	379	379	0	sindel-varindel-pindel	PCDHGA6,frameshift_variant,p.Ser754ProfsTer15,ENST00000610583,NM_032086.1;PCDHGA6,frameshift_variant,p.Ser754ProfsTer15,ENST00000517434,NM_018919.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB3,downstream_gene_variant,,ENST00000618934,NM_032097.2;PCDHGA3,intron_variant,,ENST00000612467,;	-	ENST00000517434	Transcript	frameshift_variant	2429/4775	2259/2799	753/932	Y/X	taT/ta		1		1	PCDHGA6	HGNC	HGNC:8704	protein_coding	YES	CCDS54926.1	ENSP00000429601	Q9Y5G7		UPI00000715C8	NM_018919.2			1/4		hmmpanther:PTHR24028:SF107,hmmpanther:PTHR24028,Pfam_domain:PF16492																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	7	141376342	141376342	T	-	1	0	1	0	1	0	0	0	0	11645	1500	52	0		0	PCDHGA6	5	141376342	Frame_Shift_Del	DEL	T	C3L-00080_TP	130596	141376342	40161917	238	2449											
PCDHGB5	0	.	GRCh38	chr5	141399661	141399661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaagtggggtggtgttcGcgcagcgcgcctttgactac	6	9	15	11	5	0	1	0	1	0	0	1	1	0	1	1	3	2	3	1	3	2	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1534G>A	p.Ala512Thr	p.A512T	ENST00000617380	1/4	572	500	72	422	421	1	strelka-varscan-mutect	PCDHGB5,missense_variant,p.Ala512Thr,ENST00000617380,NM_018925.2;PCDHGB5,missense_variant,p.Ala512Thr,ENST00000621169,NM_032099.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGA8,downstream_gene_variant,,ENST00000610569,NM_014004.2;PCDHGA9,upstream_gene_variant,,ENST00000573521,NM_018921.2;PCDHGA9,upstream_gene_variant,,ENST00000616887,NM_032089.1;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000617380	Transcript	missense_variant	1534/4578	1534/2772	512/923	A/T	Gcg/Acg		1		1	PCDHGB5	HGNC	HGNC:8712	protein_coding	YES	CCDS75339.1	ENSP00000478258	Q9Y5G0		UPI000007279C	NM_018925.2	deleterious(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF126,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	1			1										PASS		rs1021211609	.												A	3	1	7	141399661	141399661	G	A	1	0	0	0	0	1	0	0	0	11653	1087	38	1		1	PCDHGB5	5	141399661	Missense_Mutation	SNP	G	C3L-00080_TP	23319	141399661	40138598	239	2450											
PCDHGA12	0	.	GRCh38	chr5	141432931	141432931	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctggcacaagtcacgcctGctgcaggcttcaggaggcgg	7	6	15	13	3	2	0	2	0	0	0	2	1	2	1	1	5	2	5	1	5	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2172G>T	p.=	p.L724L	ENST00000252085	1/4	601	432	169	426	426	0	strelka-varscan-mutect	PCDHGA12,synonymous_variant,p.=,ENST00000252085,NM_003735.2;PCDHGA12,synonymous_variant,p.=,ENST00000613314,NM_032094.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB7,intron_variant,,ENST00000398594,NM_018927.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA11,intron_variant,,ENST00000398587,NM_018914.2;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGA11,intron_variant,,ENST00000518882,NM_032092.1;PCDHGB8P,downstream_gene_variant,,ENST00000502926,;PCDHGA3,intron_variant,,ENST00000612467,;PCDHGB8P,downstream_gene_variant,,ENST00000507007,;	T	ENST00000252085	Transcript	synonymous_variant	2314/4747	2172/2799	724/932	L	ctG/ctT		1		1	PCDHGA12	HGNC	HGNC:8699	protein_coding	YES	CCDS4260.1	ENSP00000252085	O60330		UPI0000073EA1	NM_003735.2			1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF109,Pfam_domain:PF16492																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	141432931	141432931	G	T	1	0	0	0	0	0	0	0	1	11640	1306	46	2		2	PCDHGA12	5	141432931	Silent	SNP	G	C3L-00080_TP	33270	141432931	40105328	240	2451											
SPRY4	0	.	GRCh38	chr5	142314904	142314904	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccagctctggggccccgcCccgggtccgctttgggccgg	1	6	17	17	4	1	0	0	0	1	0	2	0	2	0	7	6	1	2	7	6	0	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.274G>T	p.Gly92Cys	p.G92C	ENST00000344120	3/3	85	56	29	67	67	0	strelka-varscan-mutect	SPRY4,missense_variant,p.Gly92Cys,ENST00000344120,NM_030964.3;SPRY4,missense_variant,p.Gly69Cys,ENST00000434127,NM_001293290.1,NM_001127496.1,NM_001293289.1;SPRY4,downstream_gene_variant,,ENST00000511815,;SPRY4-IT1,downstream_gene_variant,,ENST00000630558,;SPRY4-IT1_2,upstream_gene_variant,,ENST00000612613,;SPRY4-IT1_1,upstream_gene_variant,,ENST00000611334,;SPRY4,downstream_gene_variant,,ENST00000503582,;	A	ENST00000344120	Transcript	missense_variant	461/4938	274/969	92/322	G/C	Ggc/Tgc		1		-1	SPRY4	HGNC	HGNC:15533	protein_coding	YES	CCDS4274.1	ENSP00000344967		A0A0C4DFS6	UPI0000167871	NM_030964.3	tolerated(0.05)		3/3		hmmpanther:PTHR12365,hmmpanther:PTHR12365:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	142314904	142314904	C	A	1	0	0	0	0	1	0	0	0	15464	623	22	2		2	SPRY4	5	142314904	Missense_Mutation	SNP	C	C3L-00080_TP	881973	142314904	39223355	241	2452											
ARSI	0	.	GRCh38	chr5	150298447	150298447	+	Frame_Shift_Del	DEL	G	G	-																															gtgtcgaagccccgacgggtGggcagacactccttccggta																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.477delC	p.Thr160ProfsTer108	p.T160Pfs*108	ENST00000328668	2/2	430	193	237	403	403	0	sindel-varindel-pindel	ARSI,frameshift_variant,p.Thr160ProfsTer108,ENST00000328668,NM_001012301.2;ARSI,frameshift_variant,p.Thr17ProfsTer108,ENST00000515301,;ARSI,frameshift_variant,p.Thr17ProfsTer?,ENST00000509146,;	-	ENST00000328668	Transcript	frameshift_variant	1057/3161	477/1710	159/569	P/X	ccC/cc		1		-1	ARSI	HGNC	HGNC:32521	protein_coding	YES	CCDS34275.1	ENSP00000333395	Q5FYB1		UPI000003FD83	NM_001012301.2			2/2		Gene3D:3.40.720.10,Pfam_domain:PF00884,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF68,Superfamily_domains:SSF53649																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	7	150298447	150298447	G	-	1	0	1	0	1	0	0	0	0	1137	1335	47	0		0	ARSI	5	150298447	Frame_Shift_Del	DEL	G	C3L-00080_TP	7983543	150298447	31239812	242	2453											
KIF4B	0	.	GRCh38	chr5	155014428	155014428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccttggatactgtttcctGtttggagcagggcaacaact	8	13	11	9	0	0	0	0	0	0	0	1	2	1	2	2	3	5	4	2	3	3	4	rs778427433		C3L-00080_TP	C3L-00080_NB	G	G																c.569G>T	p.Cys190Phe	p.C190F	ENST00000435029	1/1	683	389	294	401	401	0	strelka-varscan-mutect	KIF4B,missense_variant,p.Cys190Phe,ENST00000435029,NM_001099293.1;	T	ENST00000435029	Transcript	missense_variant	674/4378	569/3705	190/1234	C/F	tGt/tTt	rs778427433	1		1	KIF4B	HGNC	HGNC:6322	protein_coding	YES	CCDS47324.1	ENSP00000387875	Q2VIQ3		UPI000013D5DB	NM_001099293.1	deleterious(0.01)		1/1		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF392,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV				1										PASS		rs778427433	.												T	3	4	7	155014428	155014428	G	T	1	0	0	0	0	1	0	0	0	8169	1377	48	2		2	KIF4B	5	155014428	Missense_Mutation	SNP	G	C3L-00080_TP	4715981	155014428	26523831	243	2454											
GABRB2	0	.	GRCh38	chr5	161459760	161459760	+	Missense_Mutation	SNP	C	C	A																															ctggtctgccactctgttgtCcagagtcaagtttaaaggta																								novel		C3L-00080_TP	C3L-00080_NB	C	C																c.322G>T	p.Asp108Tyr	p.D108Y	ENST00000274547	5/11	410	274	136	303	303	0	strelka-varscan-mutect	GABRB2,missense_variant,p.Asp108Tyr,ENST00000274547,NM_021911.2;GABRB2,missense_variant,p.Asp108Tyr,ENST00000393959,;GABRB2,missense_variant,p.Asp45Tyr,ENST00000612710,;GABRB2,missense_variant,p.Asp108Tyr,ENST00000520240,;GABRB2,missense_variant,p.Asp108Tyr,ENST00000353437,NM_000813.2;GABRB2,missense_variant,p.Asp45Tyr,ENST00000517901,;GABRB2,intron_variant,,ENST00000517547,;GABRB2,non_coding_transcript_exon_variant,,ENST00000522758,;	A	ENST00000274547	Transcript	missense_variant	540/7409	322/1539	108/512	D/Y	Gac/Tac		1		-1	GABRB2	HGNC	HGNC:4082	protein_coding	YES	CCDS4355.1	ENSP00000274547	P47870		UPI000002AA29	NM_021911.2	deleterious(0)		5/11		hmmpanther:PTHR18945:SF221,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932,Prints_domain:PR01160																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	7	161459760	161459760	C	A	1	0	0	0	0	1	0	0	0	6038	855	30	2		2	GABRB2	5	161459760	Missense_Mutation	SNP	C	C3L-00080_TP	6445332	161459760	20078499	244	2455	55	2									
GABRB2	0	.	GRCh38	chr5	161459761	161459761	+	Silent	SNP	C	C	A																															tggtctgccactctgttgtcCagagtcaagtttaaaggtat																								novel		C3L-00080_TP	C3L-00080_NB	C	C																c.321G>T	p.=	p.L107L	ENST00000274547	5/11	406	271	135	301	301	0	strelka-varscan-mutect	GABRB2,synonymous_variant,p.=,ENST00000274547,NM_021911.2;GABRB2,synonymous_variant,p.=,ENST00000393959,;GABRB2,synonymous_variant,p.=,ENST00000612710,;GABRB2,synonymous_variant,p.=,ENST00000520240,;GABRB2,synonymous_variant,p.=,ENST00000353437,NM_000813.2;GABRB2,synonymous_variant,p.=,ENST00000517901,;GABRB2,intron_variant,,ENST00000517547,;GABRB2,non_coding_transcript_exon_variant,,ENST00000522758,;	A	ENST00000274547	Transcript	synonymous_variant	539/7409	321/1539	107/512	L	ctG/ctT		1		-1	GABRB2	HGNC	HGNC:4082	protein_coding	YES	CCDS4355.1	ENSP00000274547	P47870		UPI000002AA29	NM_021911.2			5/11		hmmpanther:PTHR18945:SF221,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932,Prints_domain:PR01160																	LOW	1	SNV	5			1										PASS		rs1454793598	.												A	2	1	7	161459761	161459761	C	A	1	0	0	0	0	0	0	0	1	6038	581	21	2		2	GABRB2	5	161459761	Silent	SNP	C	C3L-00080_TP	1	161459761	20078498	245	2456	55	2									
GABRA1	0	.	GRCh38	chr5	161897370	161897370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaacttagtctactgggCtacgtatttaaacagagagc	12	13	8	8	1	1	1	0	0	1	1	1	2	1	1	0	1	5	2	0	1	7	8	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1319C>A	p.Ala440Asp	p.A440D	ENST00000393943	10/10	230	136	94	158	158	0	strelka-varscan-mutect	GABRA1,missense_variant,p.Ala440Asp,ENST00000393943,NM_001127644.1,NM_001127648.1;GABRA1,missense_variant,p.Ala440Asp,ENST00000428797,NM_001127643.1;GABRA1,missense_variant,p.Ala455Asp,ENST00000638159,;GABRA1,missense_variant,p.Ala440Asp,ENST00000437025,NM_001127645.1;GABRA1,missense_variant,p.Ala440Asp,ENST00000638112,;GABRA1,missense_variant,p.Ala440Asp,ENST00000636573,;GABRA1,missense_variant,p.Ala440Asp,ENST00000023897,NM_000806.5;GABRA1,missense_variant,p.Ala440Asp,ENST00000637827,;GABRA1,missense_variant,p.Ala440Asp,ENST00000635880,;GABRA1,non_coding_transcript_exon_variant,,ENST00000636408,;GABRA1,3_prime_UTR_variant,,ENST00000637044,;GABRA1,3_prime_UTR_variant,,ENST00000636340,;	A	ENST00000393943	Transcript	missense_variant	2102/4686	1319/1371	440/456	A/D	gCt/gAt		1		1	GABRA1	HGNC	HGNC:4075	protein_coding	YES	CCDS4357.1	ENSP00000377517	P14867		UPI000012AF95	NM_001127644.1,NM_001127648.1	tolerated(0.08)		10/10		Gene3D:1.20.58.390,Prints_domain:PR00253,Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF514,Superfamily_domains:SSF90112,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	161897370	161897370	C	A	1	0	0	0	0	1	0	0	0	6031	797	28	2		2	GABRA1	5	161897370	Missense_Mutation	SNP	C	C3L-00080_TP	437609	161897370	19640889	246	2457											
TENM2	0	.	GRCh38	chr5	168218314	168218314	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagccattcactctgccctgGagtcagccagtgccattgcc	7	10	9	15	0	3	0	2	0	1	0	3	1	3	1	5	1	5	0	5	1	1	3			C3L-00080_TP	C3L-00080_NB	G	G																c.4423G>T	p.Glu1475Ter	p.E1475*	ENST00000518659	23/29	277	162	115	193	193	0	strelka-varscan-mutect	TENM2,stop_gained,p.Glu1354Ter,ENST00000519204,;TENM2,stop_gained,p.Glu1475Ter,ENST00000518659,NM_001122679.1;TENM2,stop_gained,p.Glu1236Ter,ENST00000520394,;	T	ENST00000518659	Transcript	stop_gained	4462/8550	4423/8325	1475/2774	E/*	Gag/Tag	COSM4548094,COSM4548095,COSM4548096,COSM4548097	1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1			23/29		Low_complexity_(Seg):seg,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,Gene3D:2.120.10.30,Superfamily_domains:SSF101898,Superfamily_domains:SSF50969											1,1,1,1						HIGH	1	SNV	5		1,1,1,1	1										PASS		.	.												T	4	4	7	168218314	168218314	G	T	1	0	0	0	0	0	1	0	0	16172	1175	41	2		2	TENM2	5	168218314	Nonsense_Mutation	SNP	G	C3L-00080_TP	6320944	168218314	13319945	247	2458											
WWC1	0	.	GRCh38	chr5	168430136	168430136	+	Splice_Site	SNP	G	G	T																															atatgccccttttcatttcaGgtatgatgagaagaataagc																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2001-1G>T		p.X667_splice	ENST00000521089		132	93	39	91	90	1	strelka-varscan-mutect	WWC1,splice_acceptor_variant,,ENST00000265293,NM_015238.2;WWC1,splice_acceptor_variant,,ENST00000393895,;WWC1,splice_acceptor_variant,,ENST00000521089,NM_001161662.1,NM_001161661.1;WWC1,splice_acceptor_variant,,ENST00000524228,;WWC1,upstream_gene_variant,,ENST00000524038,;WWC1,splice_acceptor_variant,,ENST00000524093,;WWC1,upstream_gene_variant,,ENST00000522140,;	T	ENST00000521089	Transcript	splice_acceptor_variant	-/3562	2001/3360	667/1119				1		1	WWC1	HGNC	HGNC:29435	protein_coding	YES	CCDS54945.1	ENSP00000427772	Q8IX03		UPI00017A7149	NM_001161662.1,NM_001161661.1				13/22																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	7	168430136	168430136	G	T	1	0	0	0	0	0	0	1	0	17969	1014	35	2		2	WWC1	5	168430136	Splice_Site	SNP	G	C3L-00080_TP	211822	168430136	13108123	248	2459	56	2									
WWC1	0	.	GRCh38	chr5	168430137	168430137	+	Missense_Mutation	SNP	G	G	T																															tatgccccttttcatttcagGtatgatgagaagaataagca																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2001G>T	p.Lys667Asn	p.K667N	ENST00000521089	14/23	133	93	40	95	95	0	strelka-varscan-mutect	WWC1,missense_variant,p.Lys667Asn,ENST00000265293,NM_015238.2;WWC1,missense_variant,p.Lys629Asn,ENST00000393895,;WWC1,missense_variant,p.Lys667Asn,ENST00000521089,NM_001161662.1,NM_001161661.1;WWC1,missense_variant,p.Lys444Asn,ENST00000524228,;WWC1,upstream_gene_variant,,ENST00000524038,;WWC1,splice_region_variant,,ENST00000524093,;WWC1,upstream_gene_variant,,ENST00000522140,;	T	ENST00000521089	Transcript	missense_variant,splice_region_variant	2004/3562	2001/3360	667/1119	K/N	aaG/aaT		1		1	WWC1	HGNC	HGNC:29435	protein_coding	YES	CCDS54945.1	ENSP00000427772	Q8IX03		UPI00017A7149	NM_001161662.1,NM_001161661.1	deleterious(0.03)		14/23		Gene3D:2.60.40.150,hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF22,Superfamily_domains:SSF49562																	MODERATE	1	SNV	2			1										PASS		rs1050684902	.												T	3	4	7	168430137	168430137	G	T	1	0	0	0	0	1	0	0	0	17969	1275	44	2		2	WWC1	5	168430137	Missense_Mutation	SNP	G	C3L-00080_TP	1	168430137	13108122	249	2460	56	2									
FAM153B	0	.	GRCh38	chr5	176103249	176103249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcagggatgtacttcaGgagctgtccagttacaacgg	10	10	12	9	1	2	1	2	1	0	0	3	3	3	3	1	3	4	3	1	3	3	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.456G>A	p.=	p.Q152Q	ENST00000515817	12/20	670	588	82	394	394	0	varscan-mutect	FAM153B,synonymous_variant,p.=,ENST00000515817,NM_001265615.1;FAM153B,synonymous_variant,p.=,ENST00000253490,;FAM153B,synonymous_variant,p.=,ENST00000510151,;FAM153B,intron_variant,,ENST00000512862,;FAM153B,intron_variant,,ENST00000611539,;FAM153B,downstream_gene_variant,,ENST00000503724,;FAM153B,non_coding_transcript_exon_variant,,ENST00000393522,;FAM153B,synonymous_variant,p.=,ENST00000508296,;	A	ENST00000515817	Transcript	synonymous_variant	740/1966	456/933	152/310	Q	caG/caA		1		1	FAM153B	HGNC	HGNC:27323	protein_coding	YES	CCDS43401.2	ENSP00000427684		D6RF84	UPI00001D7EF3	NM_001265615.1			12/20		Pfam_domain:PF15722,hmmpanther:PTHR40712,hmmpanther:PTHR40712:SF1																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	7	176103249	176103249	G	A	1	0	0	0	0	0	0	0	1	5311	991	35	3		3	FAM153B	5	176103249	Silent	SNP	G	C3L-00080_TP	7673112	176103249	5435010	250	2461											
UNC5A	0	.	GRCh38	chr5	176878551	176878551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccctggagcgtgtcagccCcagcactagtgacctggcct	7	7	11	16	1	1	1	1	1	0	0	1	2	1	2	5	2	3	1	5	2	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2096C>A	p.Pro699His	p.P699H	ENST00000329542	13/15	301	227	74	171	170	1	strelka-varscan-mutect	UNC5A,missense_variant,p.Pro699His,ENST00000329542,NM_133369.2;HK3,downstream_gene_variant,,ENST00000292432,NM_002115.2;UNC5A,downstream_gene_variant,,ENST00000509580,;HK3,downstream_gene_variant,,ENST00000514058,;HK3,downstream_gene_variant,,ENST00000506834,;UNC5A,downstream_gene_variant,,ENST00000513890,;HK3,downstream_gene_variant,,ENST00000514666,;	A	ENST00000329542	Transcript	missense_variant	2370/3812	2096/2529	699/842	P/H	cCc/cAc		1		1	UNC5A	HGNC	HGNC:12567	protein_coding	YES	CCDS34299.1	ENSP00000332737	Q6ZN44		UPI0000047F37	NM_133369.2	tolerated(0.09)		13/15		hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	176878551	176878551	C	A	1	0	0	0	0	1	0	0	0	17515	623	22	2		2	UNC5A	5	176878551	Missense_Mutation	SNP	C	C3L-00080_TP	775302	176878551	4659708	251	2462											
FGFR4	0	.	GRCh38	chr5	177096287	177096287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggccctctctcccctccagGgccgcctgcctgtgaagtgg	4	8	12	17	1	1	1	0	1	1	0	4	1	3	1	7	3	1	0	7	3	1	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1945G>T	p.Gly649Cys	p.G649C	ENST00000292408	15/18	158	124	34	86	85	1	strelka-varscan-mutect	FGFR4,missense_variant,p.Gly649Cys,ENST00000292408,NM_213647.2,NM_002011.4;FGFR4,missense_variant,p.Gly581Cys,ENST00000393648,NM_001291980.1;FGFR4,missense_variant,p.Gly649Cys,ENST00000502906,;FGFR4,missense_variant,p.Gly609Cys,ENST00000393637,NM_022963.3;FGFR4,downstream_gene_variant,,ENST00000511076,;FGFR4,downstream_gene_variant,,ENST00000509511,;FGFR4,downstream_gene_variant,,ENST00000508139,;FGFR4,downstream_gene_variant,,ENST00000483872,;FGFR4,upstream_gene_variant,,ENST00000513423,;	T	ENST00000292408	Transcript	missense_variant,splice_region_variant	2190/3122	1945/2409	649/802	G/C	Ggc/Tgc		1		1	FGFR4	HGNC	HGNC:3691	protein_coding	YES	CCDS4410.1	ENSP00000292408	P22455		UPI000012A72D	NM_213647.2,NM_002011.4	deleterious(0)		15/18		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF343,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	177096287	177096287	G	T	1	0	0	0	0	1	0	0	0	5732	1246	43	2		2	FGFR4	5	177096287	Missense_Mutation	SNP	G	C3L-00080_TP	217736	177096287	4441972	252	2463											
DDX41	0	.	GRCh38	chr5	177515714	177515714	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttcatttccttgaagctcTtgatgggtggtgggataccg	7	14	12	8	1	2	2	1	2	1	0	3	3	3	3	2	3	2	1	2	3	2	5	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.542A>T	p.Lys181Met	p.K181M	ENST00000507955	6/17	173	95	78	93	93	0	strelka-varscan-mutect	DDX41,missense_variant,p.Lys181Met,ENST00000507955,NM_016222.2;DDX41,missense_variant,p.Lys199Met,ENST00000330503,;DDX41,missense_variant,p.Lys181Met,ENST00000629036,;FAM193B,downstream_gene_variant,,ENST00000514747,NM_001190946.1;FAM193B,downstream_gene_variant,,ENST00000524677,;DOK3,upstream_gene_variant,,ENST00000509310,;DOK3,upstream_gene_variant,,ENST00000510389,;DDX41,downstream_gene_variant,,ENST00000625286,;DDX41,intron_variant,,ENST00000506965,;FAM193B,downstream_gene_variant,,ENST00000504130,;DDX41,missense_variant,p.Lys181Met,ENST00000509576,;DDX41,missense_variant,p.Lys7Met,ENST00000508279,;DDX41,missense_variant,p.Lys94Met,ENST00000504781,;DDX41,non_coding_transcript_exon_variant,,ENST00000505081,;DDX41,non_coding_transcript_exon_variant,,ENST00000503078,;DDX41,non_coding_transcript_exon_variant,,ENST00000515562,;DDX41,non_coding_transcript_exon_variant,,ENST00000512431,;FAM193B,downstream_gene_variant,,ENST00000506955,;FAM193B,downstream_gene_variant,,ENST00000510479,;FAM193B,downstream_gene_variant,,ENST00000510163,;FAM193B,downstream_gene_variant,,ENST00000505569,;DDX41,upstream_gene_variant,,ENST00000507900,;DDX41,upstream_gene_variant,,ENST00000504807,;DDX41,upstream_gene_variant,,ENST00000511040,;FAM193B,downstream_gene_variant,,ENST00000507212,;DDX41,upstream_gene_variant,,ENST00000512334,;FAM193B,downstream_gene_variant,,ENST00000513282,;DDX41,upstream_gene_variant,,ENST00000512027,;FAM193B,downstream_gene_variant,,ENST00000506879,;DDX41,downstream_gene_variant,,ENST00000510171,;DDX41,upstream_gene_variant,,ENST00000513562,;	A	ENST00000507955	Transcript	missense_variant	1066/2607	542/1869	181/622	K/M	aAg/aTg		1		-1	DDX41	HGNC	HGNC:18674	protein_coding	YES	CCDS4427.1	ENSP00000422753	Q9UJV9		UPI0000125164	NM_016222.2	deleterious(0.03)		6/17		PROSITE_profiles:PS51195,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF20,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	177515714	177515714	T	A	1	0	0	0	0	1	0	0	0	4164	1609	56	4		4	DDX41	5	177515714	Missense_Mutation	SNP	T	C3L-00080_TP	419427	177515714	4022545	253	2464											
GRM6	0	.	GRCh38	chr5	178989069	178989069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggcaatggcgtacaccGcatcaatcacaaactgcacc	12	6	9	14	3	2	0	2	0	0	0	2	0	2	0	2	2	3	4	2	2	4	1	rs778444272		C3L-00080_TP	C3L-00080_NB	G	G																c.1220C>T	p.Ala407Val	p.A407V	ENST00000231188	6/10	489	353	136	367	367	0	strelka-varscan-mutect	GRM6,missense_variant,p.Ala407Val,ENST00000231188,NM_000843.3;GRM6,missense_variant,p.Ala407Val,ENST00000517717,;RP11-281O15.4,intron_variant,,ENST00000519491,;GRM6,upstream_gene_variant,,ENST00000518082,;GRM6,upstream_gene_variant,,ENST00000519003,;	A	ENST00000231188	Transcript	missense_variant	1399/6143	1220/2634	407/877	A/V	gCg/gTg	rs778444272,COSM1209068	1		-1	GRM6	HGNC	HGNC:4598	protein_coding	YES	CCDS4442.1	ENSP00000231188	O15303		UPI000013C947	NM_000843.3	deleterious(0)		6/10		hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF24,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR00593											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs778444272	.												A	3	1	7	178989069	178989069	G	A	1	0	0	0	0	1	0	0	0	6683	1087	38	1		1	GRM6	5	178989069	Missense_Mutation	SNP	G	C3L-00080_TP	1473355	178989069	2549190	254	2465											
ZNF354C	0	.	GRCh38	chr5	179079425	179079425	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaactctataaatgcggCgaatgtgagaaggccttcaa	15	8	11	7	2	2	2	1	1	1	2	2	5	2	2	1	2	2	0	1	2	7	3			C3L-00080_TP	C3L-00080_NB	C	C																c.993C>T	p.=	p.G331G	ENST00000315475	5/5	482	428	54	375	375	0	strelka-varscan-mutect	ZNF354C,synonymous_variant,p.=,ENST00000315475,NM_014594.1;RP11-281O15.7,downstream_gene_variant,,ENST00000523735,;	T	ENST00000315475	Transcript	synonymous_variant	1299/5411	993/1665	331/554	G	ggC/ggT	COSM4653952	1		1	ZNF354C	HGNC	HGNC:16736	protein_coding	YES	CCDS4443.1	ENSP00000324064	Q86Y25		UPI0000161A6A	NM_014594.1			5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF140,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						LOW	1	SNV	1		1	1										PASS		rs1022352715	.												T	2	4	7	179079425	179079425	C	T	1	0	0	0	0	0	0	0	1	18438	755	27	1		1	ZNF354C	5	179079425	Silent	SNP	C	C3L-00080_TP	90356	179079425	2458834	255	2466											
ADAMTS2	0	.	GRCh38	chr5	179113896	179113896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgagcatctctttcttccGcatctcatcaatgagctctt	7	15	5	14	2	5	1	2	1	4	0	9	2	7	1	2	0	2	3	2	0	1	3	rs144078893		C3L-00080_TP	C3L-00080_NB	G	G																c.3607C>T	p.Arg1203Trp	p.R1203W	ENST00000251582	22/22	404	301	103	336	333	3	strelka-varscan-mutect	ADAMTS2,missense_variant,p.Arg1203Trp,ENST00000251582,NM_014244.4;ADAMTS2,downstream_gene_variant,,ENST00000522937,;ADAMTS2,downstream_gene_variant,,ENST00000523450,;	A	ENST00000251582	Transcript	missense_variant	3709/6754	3607/3636	1203/1211	R/W	Cgg/Tgg	rs144078893	1		-1	ADAMTS2	HGNC	HGNC:218	protein_coding	YES	CCDS4444.1	ENSP00000251582	O95450		UPI00001AE729	NM_014244.4	tolerated_low_confidence(0.05)		22/22																			MODERATE	1	SNV	1			1										PASS		rs144078893	.												A	3	1	7	179113896	179113896	G	A	1	0	0	0	0	1	0	0	0	309	1086	38	1		1	ADAMTS2	5	179113896	Missense_Mutation	SNP	G	C3L-00080_TP	34471	179113896	2424363	256	2467											
TBC1D9B	0	.	GRCh38	chr5	179891561	179891561	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtggctcggtagcactCattcttggctcgggcgtcca	6	10	13	12	4	2	0	1	0	1	0	5	1	3	0	1	4	2	4	1	4	2	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.862G>T	p.Glu288Ter	p.E288*	ENST00000356834	6/22	363	272	91	267	267	0	strelka-varscan-mutect	TBC1D9B,stop_gained,p.Glu288Ter,ENST00000356834,NM_198868.2;TBC1D9B,stop_gained,p.Glu288Ter,ENST00000355235,NM_015043.3;TBC1D9B,stop_gained,p.Glu18Ter,ENST00000524222,;TBC1D9B,downstream_gene_variant,,ENST00000630103,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000522029,;TBC1D9B,intron_variant,,ENST00000517782,;TBC1D9B,upstream_gene_variant,,ENST00000518120,;TBC1D9B,downstream_gene_variant,,ENST00000522224,;	A	ENST00000356834	Transcript	stop_gained	900/5173	862/3753	288/1250	E/*	Gag/Tag		1		-1	TBC1D9B	HGNC	HGNC:29097	protein_coding	YES	CCDS43408.1	ENSP00000349291	Q66K14		UPI000034ECFF	NM_198868.2			6/22		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF225,SMART_domains:SM00568																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	7	179891561	179891561	C	A	1	0	0	0	0	0	1	0	0	16033	835	29	2		2	TBC1D9B	5	179891561	Nonsense_Mutation	SNP	C	C3L-00080_TP	777665	179891561	1646698	257	2468											
IRF4	0	.	GRCh38	chr6	401556	401556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggaccaggtcctgttccCctacccagaggacaatggcc	8	7	10	16	0	0	1	0	0	0	1	2	3	2	3	7	4	1	1	7	4	2	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.878C>A	p.Pro293His	p.P293H	ENST00000380956	7/9	334	241	93	365	365	0	strelka-varscan-mutect	IRF4,missense_variant,p.Pro293His,ENST00000380956,NM_002460.3,NM_001195286.1;IRF4,downstream_gene_variant,,ENST00000495137,;IRF4,missense_variant,p.Pro293His,ENST00000493114,;	A	ENST00000380956	Transcript	missense_variant	1004/5331	878/1356	293/451	P/H	cCc/cAc		1		1	IRF4	HGNC	HGNC:6119	protein_coding	YES	CCDS4469.1	ENSP00000370343	Q15306		UPI000012D88B	NM_002460.3,NM_001195286.1	deleterious(0)		7/9		Gene3D:2.60.200.10,Pfam_domain:PF10401,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF6,SMART_domains:SM01243,Superfamily_domains:SSF49879																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	401556	401556	C	A	1	0	0	0	0	1	0	0	0	7739	623	22	2		2	IRF4	6	401556	Missense_Mutation	SNP	C	C3L-00080_TP		401556	170404423	258	2469											
SYCP2L	0	.	GRCh38	chr6	10907579	10907579	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctatttctgaagcgctgtgTagactgacgattaaaaaatc	13	12	9	7	2	1	3	0	2	1	1	2	4	1	3	0	0	1	3	0	0	6	4	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.714T>C	p.=	p.C238C	ENST00000283141	10/30	121	90	31	131	131	0	strelka-varscan-mutect	SYCP2L,synonymous_variant,p.=,ENST00000283141,NM_001040274.2;SYCP2L,synonymous_variant,p.=,ENST00000543878,;SYCP2L,synonymous_variant,p.=,ENST00000341041,;RP11-637O19.3,3_prime_UTR_variant,,ENST00000480294,;SYCP2L,intron_variant,,ENST00000487561,;	C	ENST00000283141	Transcript	synonymous_variant	1010/3130	714/2439	238/812	C	tgT/tgC		1		1	SYCP2L	HGNC	HGNC:21537	protein_coding	YES	CCDS43423.1	ENSP00000283141	Q5T4T6		UPI000022CA18	NM_001040274.2			10/30		hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF14																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	7	10907579	10907579	T	C	1	0	0	0	0	0	0	0	1	15823	1644	57	5		5	SYCP2L	6	10907579	Silent	SNP	T	C3L-00080_TP	10506023	10907579	159898400	259	2470											
ELOVL2	0	.	GRCh38	chr6	11005530	11005530	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaggtaggaaggtaagagtCcaacatgaaccaccctctga	16	6	10	9	0	1	3	0	2	1	1	2	4	2	4	3	3	2	2	3	3	6	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.97G>T	p.Asp33Tyr	p.D33Y	ENST00000354666	3/8	92	73	19	103	103	0	strelka-varscan-mutect	ELOVL2,missense_variant,p.Asp33Tyr,ENST00000354666,NM_017770.3;	A	ENST00000354666	Transcript	missense_variant	181/3997	97/891	33/296	D/Y	Gac/Tac		1		-1	ELOVL2	HGNC	HGNC:14416	protein_coding	YES	CCDS4518.1	ENSP00000346693	Q9NXB9	A0A024QZV3	UPI0000051C66	NM_017770.3	deleterious(0)		3/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR11157:SF16,hmmpanther:PTHR11157,Pfam_domain:PF01151																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	11005530	11005530	C	A	1	0	0	0	0	1	0	0	0	4909	855	30	2		2	ELOVL2	6	11005530	Missense_Mutation	SNP	C	C3L-00080_TP	97951	11005530	159800449	260	2471											
KIF13A	0	.	GRCh38	chr6	17764548	17764548	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accacaattatcttgtccttTaccaagcctttttcgacttc	9	16	3	13	1	1	0	0	0	1	0	4	1	2	0	4	0	2	0	4	0	4	7	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.4980A>G	p.=	p.V1660V	ENST00000259711	39/39	183	144	39	145	145	0	strelka-varscan-mutect	KIF13A,synonymous_variant,p.=,ENST00000378814,NM_001105568.2;KIF13A,synonymous_variant,p.=,ENST00000259711,NM_022113.5;KIF13A,synonymous_variant,p.=,ENST00000378826,NM_001105566.2;KIF13A,synonymous_variant,p.=,ENST00000378843,NM_001105567.2;KIF13A,synonymous_variant,p.=,ENST00000636847,;KIF13A,synonymous_variant,p.=,ENST00000502297,;	C	ENST00000259711	Transcript	synonymous_variant	5086/5941	4980/5418	1660/1805	V	gtA/gtG		1		-1	KIF13A	HGNC	HGNC:14566	protein_coding	YES	CCDS47381.1	ENSP00000259711	Q9H1H9		UPI0000E20DA3	NM_022113.5			39/39																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	7	17764548	17764548	T	C	1	0	0	0	0	0	0	0	1	8138	1741	61	5		5	KIF13A	6	17764548	Silent	SNP	T	C3L-00080_TP	6759018	17764548	153041431	261	2472											
GPX5	0	.	GRCh38	chr6	28534098	28534098	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccctgtcatgcgctggtcCcaccgggctacggtcagctc	5	9	11	16	3	2	0	2	0	0	0	5	0	4	0	3	3	3	3	3	3	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.597C>A	p.=	p.S199S	ENST00000412168	5/5	129	88	41	92	92	0	strelka-varscan-mutect	GPX5,synonymous_variant,p.=,ENST00000412168,NM_001509.2;GPX5,downstream_gene_variant,,ENST00000469384,NM_003996.3;GPX5,non_coding_transcript_exon_variant,,ENST00000442674,;GPX5,downstream_gene_variant,,ENST00000483784,;	A	ENST00000412168	Transcript	synonymous_variant	686/1540	597/666	199/221	S	tcC/tcA		1		1	GPX5	HGNC	HGNC:4557	protein_coding	YES	CCDS4652.1	ENSP00000392398	O75715	V9HWN8	UPI0000031FD7	NM_001509.2			5/5		Gene3D:3.40.30.10,PIRSF_domain:PIRSF000303,PROSITE_profiles:PS51355,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF29,Superfamily_domains:SSF52833																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	28534098	28534098	C	A	1	0	0	0	0	0	0	0	1	6622	610	22	2		2	GPX5	6	28534098	Silent	SNP	C	C3L-00080_TP	10769550	28534098	142271881	262	2473											
OR2W1	0	.	GRCh38	chr6	29044949	29044949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatctgagggatgatgCtggttgtgaaacatagatct	11	11	12	7	0	2	4	0	3	2	1	2	5	2	5	1	2	3	3	1	2	2	2			C3L-00080_TP	C3L-00080_NB	C	C																c.227G>T	p.Ser76Ile	p.S76I	ENST00000377175	1/1	216	170	46	212	212	0	strelka-varscan-mutect	OR2W1,missense_variant,p.Ser76Ile,ENST00000377175,NM_030903.3;XXbac-BPG258E24.10,intron_variant,,ENST00000623334,;XXbac-BPG258E24.10,intron_variant,,ENST00000623946,;	A	ENST00000377175	Transcript	missense_variant	292/1028	227/963	76/320	S/I	aGc/aTc	COSM313614	1		-1	OR2W1	HGNC	HGNC:8281	protein_coding	YES	CCDS4656.1	ENSP00000366380	Q9Y3N9	A0A126GVA1	UPI000003FF8A	NM_030903.3	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF169,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE		SNV			1	1										PASS		.	.												A	3	1	7	29044949	29044949	C	A	1	0	0	0	0	1	0	0	0	11110	797	28	2		2	OR2W1	6	29044949	Missense_Mutation	SNP	C	C3L-00080_TP	510851	29044949	141761030	263	2474											
OR10C1	0	.	GRCh38	chr6	29440120	29440120	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctttctcactatctacctGctgaccgtggcaggcaattt	7	14	8	12	1	3	1	1	1	3	0	4	1	3	1	2	2	2	3	2	2	3	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.105G>T	p.=	p.L35L	ENST00000444197	1/1	295	246	49	263	263	0	strelka-varscan-mutect	OR10C1,synonymous_variant,p.=,ENST00000444197,NM_013941.3;OR10C1,synonymous_variant,p.=,ENST00000622521,;OR11A1,intron_variant,,ENST00000377149,;	T	ENST00000444197	Transcript	synonymous_variant	815/1649	105/939	35/312	L	ctG/ctT		1		1	OR10C1	HGNC	HGNC:8165	protein_coding	YES	CCDS34364.1	ENSP00000419119	Q96KK4	A0A126GV80	UPI000014068E	NM_013941.3			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF191,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	7	29440120	29440120	G	T	1	0	0	0	0	0	0	0	1	10973	1306	46	2		2	OR10C1	6	29440120	Silent	SNP	G	C3L-00080_TP	395171	29440120	141365859	264	2475											
HLA-G	0	.	GRCh38	chr6	29827901	29827901	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgggggccctgaccctGaccgagacctgggcgggtga	5	6	16	14	3	1	4	0	3	1	1	2	5	1	4	4	4	0	0	4	4	0	0	rs755278031		C3L-00080_TP	C3L-00080_NB	G	G																c.57G>T	p.=	p.L19L	ENST00000428701	2/8	153	124	29	91	91	0	strelka-varscan-mutect	HLA-G,synonymous_variant,p.=,ENST00000428701,NM_002127.5;HLA-G,synonymous_variant,p.=,ENST00000376828,;HLA-G,synonymous_variant,p.=,ENST00000360323,;HLA-G,synonymous_variant,p.=,ENST00000376818,;HLA-G,synonymous_variant,p.=,ENST00000376815,;HLA-G,synonymous_variant,p.=,ENST00000478519,;HLA-G,non_coding_transcript_exon_variant,,ENST00000478355,;HCG4P8,non_coding_transcript_exon_variant,,ENST00000443049,;	T	ENST00000428701	Transcript	synonymous_variant	235/1578	57/1017	19/338	L	ctG/ctT	rs755278031	1		1	HLA-G	HGNC	HGNC:4964	protein_coding	YES	CCDS4668.1	ENSP00000412927	P17693	Q6DU14	UPI000000166E	NM_002127.5			2/8		Low_complexity_(Seg):seg,hmmpanther:PTHR16675:SF169,hmmpanther:PTHR16675,Gene3D:3.30.500.10,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV				1										PASS		rs755278031	.												T	2	4	7	29827901	29827901	G	T	1	0	0	0	0	0	0	0	1	7102	1277	45	2		2	HLA-G	6	29827901	Silent	SNP	G	C3L-00080_TP	387781	29827901	140978078	265	2476											
DDX39B	0	.	GRCh38	chr6	31531317	31531317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcctggggcatcccaCggtggatggcaatggctggg	5	9	15	12	1	1	0	0	0	1	0	4	1	3	1	3	7	0	3	3	7	1	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.956G>A	p.Arg319His	p.R319H	ENST00000396172	8/11	227	173	54	228	228	0	strelka-varscan-mutect	DDX39B,missense_variant,p.Arg319His,ENST00000396172,NM_004640.6;DDX39B,missense_variant,p.Arg319His,ENST00000458640,NM_080598.5;DDX39B,missense_variant,p.Arg319His,ENST00000376177,;DDX39B,missense_variant,p.Arg241His,ENST00000431908,;DDX39B,missense_variant,p.Arg83His,ENST00000417023,;DDX39B,downstream_gene_variant,,ENST00000427214,;MCCD1,downstream_gene_variant,,ENST00000376191,NM_001011700.2;DDX39B,downstream_gene_variant,,ENST00000456662,;DDX39B,downstream_gene_variant,,ENST00000419338,;DDX39B,downstream_gene_variant,,ENST00000428098,;DDX39B,upstream_gene_variant,,ENST00000462421,;DDX39B,missense_variant,p.Arg111His,ENST00000484566,;ATP6V1G2-DDX39B,3_prime_UTR_variant,,ENST00000376185,;DDX39B,non_coding_transcript_exon_variant,,ENST00000462256,;DDX39B,non_coding_transcript_exon_variant,,ENST00000482195,;DDX39B,non_coding_transcript_exon_variant,,ENST00000474961,;DDX39B,non_coding_transcript_exon_variant,,ENST00000478365,;DDX39B,downstream_gene_variant,,ENST00000481456,;RPL15P4,downstream_gene_variant,,ENST00000416625,;	T	ENST00000396172	Transcript	missense_variant	1587/2133	956/1287	319/428	R/H	cGt/cAt		1		-1	DDX39B	HGNC	HGNC:13917	protein_coding	YES	CCDS4697.1	ENSP00000379475	Q13838	A0A024RCM3	UPI0000001D0B	NM_004640.6	tolerated(0.1)		8/11		Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF204,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	31531317	31531317	C	T	1	0	0	0	0	1	0	0	0	4160	536	19	1		1	DDX39B	6	31531317	Missense_Mutation	SNP	C	C3L-00080_TP	1703416	31531317	139274662	266	2477											
TAP2	0	.	GRCh38	chr6	32832730	32832730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagacttcatgctcctcgGccccaaaactgcgaacggtc	10	7	9	15	3	1	1	1	0	0	1	4	3	2	1	3	2	4	1	3	2	3	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1040C>A	p.Ala347Asp	p.A347D	ENST00000374897	6/12	557	441	116	511	511	0	strelka-varscan-mutect	TAP2,missense_variant,p.Ala347Asp,ENST00000374897,NM_001290043.1;TAP2,missense_variant,p.Ala347Asp,ENST00000620123,NM_000544.3;XXbac-BPG246D15.9,missense_variant,p.Ala347Asp,ENST00000452392,;TAP2,missense_variant,p.Ala347Asp,ENST00000374899,NM_018833.2;TAP2,non_coding_transcript_exon_variant,,ENST00000485701,;TAP2,upstream_gene_variant,,ENST00000464100,;	T	ENST00000374897	Transcript	missense_variant	1172/5684	1040/2061	347/686	A/D	gCc/gAc		1		-1	TAP2	HGNC	HGNC:44	protein_coding	YES	CCDS78129.1	ENSP00000364032	Q03519	Q5JNW1	UPI000011D578	NM_001290043.1	deleterious(0)		6/12		PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF237,hmmpanther:PTHR24221,Gene3D:2hydA01,Pfam_domain:PF00664,PIRSF_domain:PIRSF002773,TIGRFAM_domain:TIGR00958,Superfamily_domains:SSF90123																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	32832730	32832730	G	T	1	0	0	0	0	1	0	0	0	15950	1203	42	2		2	TAP2	6	32832730	Missense_Mutation	SNP	G	C3L-00080_TP	1301413	32832730	137973249	267	2478											
HLA-DMA	0	.	GRCh38	chr6	32949800	32949800	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagttcactgtcagcatggGtgggaagagattactgacaa	12	9	12	8	0	2	2	2	1	0	1	2	4	2	3	1	2	2	2	1	2	3	2	rs112631644		C3L-00080_TP	C3L-00080_NB	G	G																c.463C>G	p.Pro155Ala	p.P155A	ENST00000374843	3/5	399	332	67	355	355	0	strelka-varscan-mutect	HLA-DMA,missense_variant,p.Pro155Ala,ENST00000374843,NM_006120.3;HLA-DMA,missense_variant,p.Pro185Ala,ENST00000456800,;HLA-DMA,missense_variant,p.Pro60Ala,ENST00000395305,;HLA-DMA,missense_variant,p.Pro122Ala,ENST00000422832,;HLA-DMA,intron_variant,,ENST00000395303,;XXbac-BPG181M17.5,intron_variant,,ENST00000429234,;HLA-DMA,non_coding_transcript_exon_variant,,ENST00000464392,;HLA-DMA,non_coding_transcript_exon_variant,,ENST00000477541,;HLA-DMA,downstream_gene_variant,,ENST00000475627,;HLA-DMA,upstream_gene_variant,,ENST00000480785,;	C	ENST00000374843	Transcript	missense_variant	549/1123	463/786	155/261	P/A	Ccc/Gcc	rs112631644	1		-1	HLA-DMA	HGNC	HGNC:4934	protein_coding	YES	CCDS4761.1	ENSP00000363976	P28067	Q31604,Q6ICR9	UPI000006F879	NM_006120.3	tolerated(0.09)		3/5		Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF50,SMART_domains:SM00407,Superfamily_domains:SSF48726																	MODERATE		SNV				1										PASS		rs112631644	.												C	3	2	7	32949800	32949800	G	C	1	0	0	0	0	1	0	0	0	7087	1261	44	4		4	HLA-DMA	6	32949800	Missense_Mutation	SNP	G	C3L-00080_TP	117070	32949800	137856179	268	2479											
RING1	0	.	GRCh38	chr6	33211413	33211413	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactctggtgaccggggaggGactctgggagggggaacgct	7	6	20	8	2	2	1	0	1	2	0	2	6	2	5	1	7	1	1	1	7	1	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.711G>T	p.=	p.G237G	ENST00000374656	5/7	112	65	47	114	114	0	strelka-varscan-mutect	RING1,synonymous_variant,p.=,ENST00000374656,NM_002931.3;HSD17B8,downstream_gene_variant,,ENST00000374662,NM_014234.4;MIR219A1,downstream_gene_variant,,ENST00000362166,;RING1,non_coding_transcript_exon_variant,,ENST00000478431,;HSD17B8,downstream_gene_variant,,ENST00000469186,;ZNF70P1,upstream_gene_variant,,ENST00000417480,;	T	ENST00000374656	Transcript	synonymous_variant	919/1752	711/1221	237/406	G	ggG/ggT		1		1	RING1	HGNC	HGNC:10018	protein_coding	YES	CCDS34424.1	ENSP00000363787	Q06587		UPI000019273E	NM_002931.3			5/7		hmmpanther:PTHR10825,hmmpanther:PTHR10825:SF6,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	33211413	33211413	G	T	1	0	0	0	0	0	0	0	1	13548	1161	41	2		2	RING1	6	33211413	Silent	SNP	G	C3L-00080_TP	261613	33211413	137594566	269	2480											
MDGA1	0	.	GRCh38	chr6	37652132	37652132	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgagctctaggctgctGgtgactgcgggcagctcagg	7	9	15	10	1	3	2	2	2	1	0	3	2	3	2	0	4	4	5	0	4	2	1	rs768355120		C3L-00080_TP	C3L-00080_NB	G	G																c.1191C>T	p.=	p.T397T	ENST00000434837	7/17	281	214	67	232	232	0	strelka-varscan-mutect	MDGA1,synonymous_variant,p.=,ENST00000434837,NM_153487.3;MDGA1,synonymous_variant,p.=,ENST00000505425,;MDGA1,downstream_gene_variant,,ENST00000515437,;MDGA1,downstream_gene_variant,,ENST00000508399,;MDGA1,upstream_gene_variant,,ENST00000510077,;MDGA1,non_coding_transcript_exon_variant,,ENST00000478143,;MDGA1,upstream_gene_variant,,ENST00000502298,;	A	ENST00000434837	Transcript	synonymous_variant	2370/10736	1191/2868	397/955	T	acC/acT	rs768355120	1		-1	MDGA1	HGNC	HGNC:19267	protein_coding	YES	CCDS47417.1	ENSP00000402584	Q8NFP4		UPI0000071D28	NM_153487.3			7/17		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF66,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs768355120	.												A	2	1	7	37652132	37652132	G	A	1	0	0	0	0	0	0	0	1	9344	1335	47	3		3	MDGA1	6	37652132	Silent	SNP	G	C3L-00080_TP	4440719	37652132	133153847	270	2481											
TREML1	0	.	GRCh38	chr6	41153947	41153947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgatccacagctgaggacaCcaggggctggcacccctccg	8	4	13	16	2	0	1	0	1	0	0	2	3	2	2	5	4	1	3	5	4	0	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.187G>T	p.Val63Leu	p.V63L	ENST00000426005	2/6	386	306	80	372	371	1	strelka-varscan-mutect	TREML1,missense_variant,p.Val63Leu,ENST00000373127,NM_001271807.1;TREML1,missense_variant,p.Val63Leu,ENST00000426005,NM_178174.3;TREML1,intron_variant,,ENST00000437044,NM_001271808.1;TREM2,downstream_gene_variant,,ENST00000373113,NM_018965.3;TREM2,downstream_gene_variant,,ENST00000373122,;TREM2,downstream_gene_variant,,ENST00000338469,NM_001271821.1;TREML1,upstream_gene_variant,,ENST00000590581,;	A	ENST00000426005	Transcript	missense_variant	231/981	187/936	63/311	V/L	Gtg/Ttg		1		-1	TREML1	HGNC	HGNC:20434	protein_coding	YES	CCDS4851.1	ENSP00000402855	Q86YW5		UPI0000074451	NM_178174.3	deleterious(0.04)		2/6		hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF37,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	41153947	41153947	C	A	1	0	0	0	0	1	0	0	0	16961	507	18	2		2	TREML1	6	41153947	Missense_Mutation	SNP	C	C3L-00080_TP	3501815	41153947	129652032	271	2482											
ZNF318	0	.	GRCh38	chr6	43340189	43340189	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttcccaaaagaagatGatgttggtgattccttcttt	11	16	8	6	0	1	5	0	3	1	2	3	5	3	5	2	1	0	1	2	1	4	5	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.3809C>A	p.Ser1270Ter	p.S1270*	ENST00000361428	10/10	234	195	39	288	288	0	strelka-varscan-mutect	ZNF318,stop_gained,p.Ser1270Ter,ENST00000361428,NM_014345.2;ZNF318,intron_variant,,ENST00000606599,;ZNF318,intron_variant,,ENST00000605935,;	T	ENST00000361428	Transcript	stop_gained	3887/8006	3809/6840	1270/2279	S/*	tCa/tAa		1		-1	ZNF318	HGNC	HGNC:13578	protein_coding	YES	CCDS4895.2	ENSP00000354964	Q5VUA4		UPI000049E044	NM_014345.2			10/10		hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577																	HIGH	1	SNV	1			1										PASS		rs1292342861	.												T	4	4	7	43340189	43340189	G	T	1	0	0	0	0	0	1	0	0	18411	1294	45	2		2	ZNF318	6	43340189	Nonsense_Mutation	SNP	G	C3L-00080_TP	2186242	43340189	127465790	272	2483											
TMEM63B	0	.	GRCh38	chr6	44154399	44154399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagatactgtggaccccaGaagcaatggacggcccccca	12	4	11	14	1	0	2	0	0	0	2	0	5	0	4	5	3	2	1	5	3	3	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2261G>A	p.Arg754Lys	p.R754K	ENST00000259746	23/24	229	143	86	167	167	0	strelka-varscan-mutect	TMEM63B,missense_variant,p.Arg754Lys,ENST00000259746,NM_001318792.1;TMEM63B,missense_variant,p.Arg754Lys,ENST00000323267,NM_018426.1;TMEM63B,missense_variant,p.Arg683Lys,ENST00000371893,;CAPN11,upstream_gene_variant,,ENST00000398776,NM_007058.3;CAPN11,upstream_gene_variant,,ENST00000532171,;TMEM63B,3_prime_UTR_variant,,ENST00000533121,;CAPN11,upstream_gene_variant,,ENST00000526118,;	A	ENST00000259746	Transcript	missense_variant	2444/3318	2261/2499	754/832	R/K	aGa/aAa		1		1	TMEM63B	HGNC	HGNC:17735	protein_coding	YES	CCDS34461.1	ENSP00000259746	Q5T3F8		UPI000020DDEE	NM_001318792.1	tolerated(0.9)		23/24		hmmpanther:PTHR13018:SF38,hmmpanther:PTHR13018																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	44154399	44154399	G	A	1	0	0	0	0	1	0	0	0	16667	942	33	3		3	TMEM63B	6	44154399	Missense_Mutation	SNP	G	C3L-00080_TP	814210	44154399	126651580	273	2484											
CENPQ	0	.	GRCh38	chr6	49488420	49488424	+	Frame_Shift_Del	DEL	AATTC	AATTC	-																															attcagagcctaaagaacaaAattcagattctggcaagtga																								novel		C3L-00080_TP	C3L-00080_NB	AATTC	AATTC																c.547_551delATTCA	p.Ile183AspfsTer5	p.I183Dfs*5	ENST00000335783	7/9	64	48	16	126	126	0	sindel-varindel-pindel	CENPQ,frameshift_variant,p.Ile183AspfsTer5,ENST00000335783,NM_018132.3;	-	ENST00000335783	Transcript	frameshift_variant	640-644/1733	546-550/807	182-184/268	KIQ/KX	aaAATTCag/aaag		1		1	CENPQ	HGNC	HGNC:21347	protein_coding	YES	CCDS4925.1	ENSP00000337289	Q7L2Z9		UPI000020DE7B	NM_018132.3			7/9		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF13094,hmmpanther:PTHR31345,hmmpanther:PTHR31345:SF3																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	7	49488420	49488420	AATTC	-	1	0	1	0	1	0	0	0	0	2949	11	1	0		0	CENPQ	6	49488420	Frame_Shift_Del	DEL	AATTC	C3L-00080_TP	5334021	49488420	121317559	274	2485											
TFAP2D	0	.	GRCh38	chr6	50715549	50715549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagtatggaatgcaccCagatcaaagactcctgccag	12	8	8	13	0	2	2	2	0	1	2	4	3	3	3	3	1	2	2	3	1	3	1	rs770678203		C3L-00080_TP	C3L-00080_NB	C	C																c.473C>A	p.Pro158Gln	p.P158Q	ENST00000008391	2/8	130	109	21	142	142	0	strelka-varscan-mutect	TFAP2D,missense_variant,p.Pro158Gln,ENST00000008391,NM_172238.3;TFAP2D,upstream_gene_variant,,ENST00000492804,;	A	ENST00000008391	Transcript	missense_variant	701/1711	473/1359	158/452	P/Q	cCa/cAa	rs770678203	1		1	TFAP2D	HGNC	HGNC:15581	protein_coding	YES	CCDS4933.1	ENSP00000008391	Q7Z6R9		UPI00001A3A89	NM_172238.3	deleterious(0.01)		2/8		hmmpanther:PTHR10812:SF5,hmmpanther:PTHR10812																	MODERATE	1	SNV	1			1										PASS		rs770678203	.												A	3	1	7	50715549	50715549	C	A	1	0	0	0	0	1	0	0	0	16223	594	21	2		2	TFAP2D	6	50715549	Missense_Mutation	SNP	C	C3L-00080_TP	1227129	50715549	120090430	275	2486											
TFAP2B	0	.	GRCh38	chr6	50840169	50840169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaggagaagctgttcaCttagctagggattttgggta	9	15	12	5	0	2	1	2	0	0	1	2	3	2	2	0	3	2	4	0	3	4	8	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.954C>A	p.His318Gln	p.H318Q	ENST00000393655	6/7	526	438	88	463	462	1	strelka-varscan-mutect	TFAP2B,missense_variant,p.His318Gln,ENST00000393655,NM_003221.3;	A	ENST00000393655	Transcript	missense_variant	1123/5773	954/1383	318/460	H/Q	caC/caA		1		1	TFAP2B	HGNC	HGNC:11743	protein_coding	YES	CCDS4934.2	ENSP00000377265	Q92481		UPI000020DE90	NM_003221.3	deleterious(0)		6/7		Pfam_domain:PF03299,hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	50840169	50840169	C	A	1	0	0	0	0	1	0	0	0	16221	564	20	2		2	TFAP2B	6	50840169	Missense_Mutation	SNP	C	C3L-00080_TP	124620	50840169	119965810	276	2487											
KLHL31	0	.	GRCh38	chr6	53651880	53651880	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtagctccactggccggtCgcggggctgtagcactccac	5	7	14	15	4	0	0	0	0	0	0	3	0	2	0	3	4	2	5	3	4	2	2	rs772350477		C3L-00080_TP	C3L-00080_NB	C	C																c.1623G>T	p.=	p.A541A	ENST00000370905	3/3	211	155	56	210	210	0	strelka-varscan-mutect	KLHL31,synonymous_variant,p.=,ENST00000370905,NM_001003760.4;KLHL31,synonymous_variant,p.=,ENST00000407079,;	A	ENST00000370905	Transcript	synonymous_variant	1764/5743	1623/1905	541/634	A	gcG/gcT	rs772350477	1		-1	KLHL31	HGNC	HGNC:21353	protein_coding	YES	CCDS34478.1	ENSP00000359942	Q9H511		UPI000006D624	NM_001003760.4			3/3		hmmpanther:PTHR24412:SF247,hmmpanther:PTHR24412,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,Gene3D:1k3iA02,SMART_domains:SM00612,Superfamily_domains:0052715																	LOW	1	SNV	1			1										PASS		rs772350477	.												A	2	1	7	53651880	53651880	C	A	1	0	0	0	0	0	0	0	1	8250	871	31	1		1	KLHL31	6	53651880	Silent	SNP	C	C3L-00080_TP	2811711	53651880	117154099	277	2488											
DST	0	.	GRCh38	chr6	56572100	56572100	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttttaaagtggtacttacTtttctttgatggtatcctcc	8	20	6	7	0	1	1	0	1	1	0	3	1	3	1	2	2	2	2	2	2	5	9	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.6950A>C	p.Lys2317Thr	p.K2317T	ENST00000312431	45/95	86	53	33	146	146	0	strelka-varscan-mutect	DST,missense_variant,p.Lys4363Thr,ENST00000361203,;DST,missense_variant,p.Lys2277Thr,ENST00000421834,NM_183380.3;DST,missense_variant,p.Lys2317Thr,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,missense_variant,p.Lys2277Thr,ENST00000370788,;DST,missense_variant,p.Lys1951Thr,ENST00000244364,NM_015548.4;DST,3_prime_UTR_variant,,ENST00000518398,;	G	ENST00000312431	Transcript	missense_variant,splice_region_variant	7076/17756	6950/16614	2317/5537	K/T	aAa/aCa		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1	deleterious(0)		45/95		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915,Superfamily_domains:SSF46966																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	7	56572100	56572100	T	G	1	0	0	0	0	1	0	0	0	4604	1623	56	5		5	DST	6	56572100	Missense_Mutation	SNP	T	C3L-00080_TP	2920220	56572100	114233879	278	2489											
CD109	0	.	GRCh38	chr6	73788533	73788533	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgactgacaataggctacaGagtaccctgaaaactttgag	14	10	9	8	0	0	5	0	4	0	1	0	5	0	5	1	1	3	2	1	1	6	5	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2622G>C	p.Gln874His	p.Q874H	ENST00000287097	22/33	99	66	33	218	218	0	strelka-varscan-mutect	CD109,missense_variant,p.Gln874His,ENST00000437994,NM_001159587.2;CD109,missense_variant,p.Gln797His,ENST00000422508,NM_001159588.2;CD109,missense_variant,p.Gln874His,ENST00000287097,NM_133493.4;CD109,upstream_gene_variant,,ENST00000474094,;	C	ENST00000287097	Transcript	missense_variant	2734/9130	2622/4338	874/1445	Q/H	caG/caC		1		1	CD109	HGNC	HGNC:21685	protein_coding	YES	CCDS4982.1	ENSP00000287097	Q6YHK3		UPI000013DE92	NM_133493.4	deleterious(0.01)		22/33		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF80																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	73788533	73788533	G	C	1	0	0	0	0	1	0	0	0	2666	933	33	4		4	CD109	6	73788533	Missense_Mutation	SNP	G	C3L-00080_TP	17216433	73788533	97017446	279	2490											
ZNF292	0	.	GRCh38	chr6	87260570	87260570	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagaaaaatcaaagtctaAacatcgggggaccaagcaca	19	4	8	10	1	2	1	1	0	1	1	3	2	2	2	2	2	2	1	2	2	7	1	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.6941A>T	p.Lys2314Ile	p.K2314I	ENST00000369577	8/8	156	95	61	169	169	0	strelka-varscan-mutect	ZNF292,missense_variant,p.Lys2314Ile,ENST00000369577,NM_015021.1;ZNF292,missense_variant,p.Lys2309Ile,ENST00000339907,;ZNF292,missense_variant,p.Lys232Ile,ENST00000496806,;	T	ENST00000369577	Transcript	missense_variant	6984/10610	6941/8172	2314/2723	K/I	aAa/aTa		1		1	ZNF292	HGNC	HGNC:18410	protein_coding	YES	CCDS47457.1	ENSP00000358590	O60281		UPI000020D2CC	NM_015021.1	deleterious(0.01)		8/8		hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	7	87260570	87260570	A	T	1	0	0	0	0	1	0	0	0	18402	14	1	4		4	ZNF292	6	87260570	Missense_Mutation	SNP	A	C3L-00080_TP	13472037	87260570	83545409	280	2491											
FAM229B	0	.	GRCh38	chr6	112099299	112099299	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtatgccttttcaatttGgaacccagccaaggaggttt	11	12	10	8	0	1	0	1	0	0	0	1	3	1	2	3	3	3	2	3	3	5	5	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.16G>T	p.Gly6Ter	p.G6*	ENST00000368656	3/4	131	65	66	163	162	1	strelka-varscan-mutect	FAM229B,stop_gained,p.Gly6Ter,ENST00000368656,NM_001033564.2;FAM229B,stop_gained,p.Gly6Ter,ENST00000604268,;	T	ENST00000368656	Transcript	stop_gained	313/2543	16/243	6/80	G/*	Gga/Tga		1		1	FAM229B	HGNC	HGNC:33858	protein_coding	YES	CCDS34513.1	ENSP00000357645	Q4G0N7		UPI000000DAC0	NM_001033564.2			3/4		Pfam_domain:PF14982,hmmpanther:PTHR35355,hmmpanther:PTHR35355:SF2																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	7	112099299	112099299	G	T	1	0	0	0	0	0	1	0	0	5422	1349	47	2		2	FAM229B	6	112099299	Nonsense_Mutation	SNP	G	C3L-00080_TP	24838729	112099299	58706680	281	2492											
LAMA4	0	.	GRCh38	chr6	112216385	112216385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccacacagtatcctgagcCgtccaaacactcgttggaat	12	9	7	13	2	0	1	0	1	0	0	3	2	2	2	4	1	3	2	4	1	4	3	rs35349917		C3L-00080_TP	C3L-00080_NB	C	C																c.280G>T	p.Gly94Cys	p.G94C	ENST00000230538	3/39	381	243	138	476	474	2	strelka-varscan-mutect	LAMA4,missense_variant,p.Gly94Cys,ENST00000230538,NM_001105206.2;LAMA4,missense_variant,p.Gly94Cys,ENST00000522006,NM_001105207.2,NM_002290.4;LAMA4,missense_variant,p.Gly94Cys,ENST00000389463,;LAMA4,missense_variant,p.Gly94Cys,ENST00000424408,;LAMA4,missense_variant,p.Gly94Cys,ENST00000521398,;LAMA4,missense_variant,p.Gly94Cys,ENST00000431543,;LAMA4,missense_variant,p.Gly94Cys,ENST00000519932,;LAMA4,downstream_gene_variant,,ENST00000243219,;LAMA4,downstream_gene_variant,,ENST00000521690,;RP1-142L7.9,downstream_gene_variant,,ENST00000603682,;LAMA4,non_coding_transcript_exon_variant,,ENST00000524032,;LAMA4,non_coding_transcript_exon_variant,,ENST00000423735,;	A	ENST00000230538	Transcript	missense_variant	678/6547	280/5472	94/1823	G/C	Ggc/Tgc	rs35349917	1		-1	LAMA4	HGNC	HGNC:6484	protein_coding	YES	CCDS43491.1	ENSP00000230538		A0A0A0MQS9	UPI000153D541	NM_001105206.2	deleterious(0.02)		3/39		PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF277,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196										benign							MODERATE	1	SNV	1		1	1										PASS		rs35349917	.												A	3	1	7	112216385	112216385	C	A	1	0	0	0	0	1	0	0	0	8512	652	23	1		1	LAMA4	6	112216385	Missense_Mutation	SNP	C	C3L-00080_TP	117086	112216385	58589594	282	2493											
GPRC6A	0	.	GRCh38	chr6	116806425	116806425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgagcttgacacagatccCgaatggcataaccaagggca	14	5	10	12	2	0	2	0	1	0	1	1	4	1	2	2	2	2	3	2	2	3	2	rs563483944		C3L-00080_TP	C3L-00080_NB	C	C																c.1280G>T	p.Arg427Leu	p.R427L	ENST00000310357	3/6	106	100	6	94	94	0	strelka-mutect	GPRC6A,missense_variant,p.Arg427Leu,ENST00000310357,NM_148963.3;GPRC6A,missense_variant,p.Arg427Leu,ENST00000368549,NM_001286355.1;GPRC6A,intron_variant,,ENST00000530250,NM_001286354.1;	A	ENST00000310357	Transcript	missense_variant	1302/2860	1280/2781	427/926	R/L	cGg/cTg	rs563483944,COSM1072464	1		-1	GPRC6A	HGNC	HGNC:18510	protein_coding	YES	CCDS5112.1	ENSP00000309493	Q5T6X5		UPI000013EFF9	NM_148963.3	tolerated(0.09)		3/6		hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF5,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs563483944	.												A	3	1	7	116806425	116806425	C	A	1	0	0	0	0	1	0	0	0	6607	652	23	1		1	GPRC6A	6	116806425	Missense_Mutation	SNP	C	C3L-00080_TP	4590040	116806425	53999554	283	2494											
C6orf58	0	.	GRCh38	chr6	127578768	127578768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atctctgtggacagttggtgGgctggtatgttcgtttaagt	6	16	14	5	1	1	0	0	0	1	0	3	1	1	1	0	4	0	5	0	4	2	5	rs773914066		C3L-00080_TP	C3L-00080_NB	G	G																c.384G>T	p.Trp128Cys	p.W128C	ENST00000329722	2/6	61	33	28	89	89	0	strelka-varscan-mutect	C6orf58,missense_variant,p.Trp128Cys,ENST00000329722,NM_001010905.2;C6orf58,downstream_gene_variant,,ENST00000498112,;	T	ENST00000329722	Transcript	missense_variant	396/1200	384/993	128/330	W/C	tgG/tgT	rs773914066	1		1	C6orf58	HGNC	HGNC:20960	protein_coding	YES	CCDS34533.1	ENSP00000328069	Q6P5S2		UPI00001D80C9	NM_001010905.2	deleterious(0)		2/6		Pfam_domain:PF05612,hmmpanther:PTHR18820,hmmpanther:PTHR18820:SF4																	MODERATE	1	SNV	1			1										PASS		rs773914066	.												T	3	4	7	127578768	127578768	G	T	1	0	0	0	0	1	0	0	0	2131	1246	43	2		2	C6orf58	6	127578768	Missense_Mutation	SNP	G	C3L-00080_TP	10772343	127578768	43227211	284	2495											
LAMA2	0	.	GRCh38	chr6	129287876	129287876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctattttggacaaccctCtgtacctggaggatcatgtc	9	12	10	10	0	2	0	1	0	1	0	3	3	2	3	2	4	2	2	2	4	3	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2567C>G	p.Ser856Cys	p.S856C	ENST00000421865	19/65	361	303	58	349	349	0	strelka-varscan-mutect	LAMA2,missense_variant,p.Ser856Cys,ENST00000618192,;LAMA2,missense_variant,p.Ser856Cys,ENST00000617695,;LAMA2,missense_variant,p.Ser856Cys,ENST00000421865,NM_001079823.1,NM_000426.3;	G	ENST00000421865	Transcript	missense_variant	2616/9640	2567/9369	856/3122	S/C	tCt/tGt		1		1	LAMA2	HGNC	HGNC:6482	protein_coding	YES	CCDS5138.1	ENSP00000400365	P24043		UPI00003673E0	NM_001079823.1,NM_000426.3	deleterious(0.01)		19/65		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF291,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	7	129287876	129287876	C	G	1	0	0	0	0	1	0	0	0	8510	913	32	4		4	LAMA2	6	129287876	Missense_Mutation	SNP	C	C3L-00080_TP	1709108	129287876	41518103	285	2496											
LAMA2	0	.	GRCh38	chr6	129393096	129393096	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagctgtttggagagtcccgGggggaaaatgaagaaatgga	14	7	16	4	1	0	3	0	1	0	2	1	6	1	5	1	5	1	2	1	5	5	1	rs747795505		C3L-00080_TP	C3L-00080_NB	G	G																c.5286G>T	p.=	p.R1762R	ENST00000421865	37/65	222	195	27	197	197	0	strelka-varscan-mutect	LAMA2,synonymous_variant,p.=,ENST00000618192,;LAMA2,synonymous_variant,p.=,ENST00000617695,;LAMA2,synonymous_variant,p.=,ENST00000421865,NM_001079823.1,NM_000426.3;	T	ENST00000421865	Transcript	synonymous_variant	5335/9640	5286/9369	1762/3122	R	cgG/cgT	rs747795505	1		1	LAMA2	HGNC	HGNC:6482	protein_coding	YES	CCDS5138.1	ENSP00000400365	P24043		UPI00003673E0	NM_001079823.1,NM_000426.3			37/65		Coiled-coils_(Ncoils):Coil,PD936484,Pfam_domain:PF06008																	LOW	1	SNV	5			1										PASS		rs747795505	.												T	2	4	7	129393096	129393096	G	T	1	0	0	0	0	0	0	0	1	8510	1219	43	2		2	LAMA2	6	129393096	Silent	SNP	G	C3L-00080_TP	105220	129393096	41412883	286	2497											
LAMA2	0	.	GRCh38	chr6	129464308	129464308	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctcaggtggaagatagTgaggggactattcaatttga	12	11	13	5	0	2	3	2	2	0	1	3	5	3	5	1	4	0	0	1	4	4	4	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.7011T>C	p.=	p.S2337S	ENST00000421865	50/65	242	122	120	240	240	0	strelka-varscan-mutect	LAMA2,synonymous_variant,p.=,ENST00000618192,;LAMA2,synonymous_variant,p.=,ENST00000617695,;LAMA2,synonymous_variant,p.=,ENST00000421865,NM_001079823.1,NM_000426.3;	C	ENST00000421865	Transcript	synonymous_variant	7060/9640	7011/9369	2337/3122	S	agT/agC		1		1	LAMA2	HGNC	HGNC:6482	protein_coding	YES	CCDS5138.1	ENSP00000400365	P24043		UPI00003673E0	NM_001079823.1,NM_000426.3			50/65		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF291,Superfamily_domains:SSF49899																	LOW	1	SNV	5			1										PASS		rs1283730544	.												C	2	2	7	129464308	129464308	T	C	1	0	0	0	0	0	0	0	1	8510	1693	59	5		5	LAMA2	6	129464308	Silent	SNP	T	C3L-00080_TP	71212	129464308	41341671	287	2498											
L3MBTL3	0	.	GRCh38	chr6	130094330	130094330	+	Missense_Mutation	SNP	G	G	T																															ccccgggatgtaaagggattGgccatttcaagagagcgaga																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1699G>T	p.Gly567Cys	p.G567C	ENST00000529410	20/25	178	101	77	231	231	0	strelka-varscan-mutect	L3MBTL3,missense_variant,p.Gly567Cys,ENST00000529410,;L3MBTL3,missense_variant,p.Gly567Cys,ENST00000368136,;L3MBTL3,missense_variant,p.Gly567Cys,ENST00000361794,NM_032438.2;L3MBTL3,missense_variant,p.Gly542Cys,ENST00000368139,;L3MBTL3,missense_variant,p.Gly542Cys,ENST00000526019,;L3MBTL3,missense_variant,p.Gly542Cys,ENST00000533560,NM_001007102.2;L3MBTL3,downstream_gene_variant,,ENST00000533890,;	T	ENST00000529410	Transcript	missense_variant	2178/4518	1699/2343	567/780	G/C	Ggc/Tgc		1		1	L3MBTL3	HGNC	HGNC:23035	protein_coding	YES	CCDS34537.1	ENSP00000431962	Q96JM7		UPI00001C1E3E		deleterious(0)		20/25		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF72,Superfamily_domains:SSF63748																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	7	130094330	130094330	G	T	1	0	0	0	0	1	0	0	0	8495	1348	47	2		2	L3MBTL3	6	130094330	Missense_Mutation	SNP	G	C3L-00080_TP	630022	130094330	40711649	288	2499	57	2									
L3MBTL3	0	.	GRCh38	chr6	130094331	130094331	+	Missense_Mutation	SNP	G	G	T																															cccgggatgtaaagggattgGccatttcaagagagcgagac																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1700G>T	p.Gly567Val	p.G567V	ENST00000529410	20/25	178	99	79	230	230	0	strelka-varscan-mutect	L3MBTL3,missense_variant,p.Gly567Val,ENST00000529410,;L3MBTL3,missense_variant,p.Gly567Val,ENST00000368136,;L3MBTL3,missense_variant,p.Gly567Val,ENST00000361794,NM_032438.2;L3MBTL3,missense_variant,p.Gly542Val,ENST00000368139,;L3MBTL3,missense_variant,p.Gly542Val,ENST00000526019,;L3MBTL3,missense_variant,p.Gly542Val,ENST00000533560,NM_001007102.2;L3MBTL3,downstream_gene_variant,,ENST00000533890,;	T	ENST00000529410	Transcript	missense_variant	2179/4518	1700/2343	567/780	G/V	gGc/gTc		1		1	L3MBTL3	HGNC	HGNC:23035	protein_coding	YES	CCDS34537.1	ENSP00000431962	Q96JM7		UPI00001C1E3E		deleterious(0)		20/25		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF72,Superfamily_domains:SSF63748																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	7	130094331	130094331	G	T	1	0	0	0	0	1	0	0	0	8495	1203	42	2		2	L3MBTL3	6	130094331	Missense_Mutation	SNP	G	C3L-00080_TP	1	130094331	40711648	289	2500	57	2									
VNN1	0	.	GRCh38	chr6	132692259	132692259	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccacagtgtgcagtccGtcaaatgcccctagagcgta	9	9	9	14	2	1	1	1	0	0	1	3	1	3	1	5	0	3	2	5	0	3	3	rs767890224		C3L-00080_TP	C3L-00080_NB	G	G																c.1152C>T	p.=	p.D384D	ENST00000367928	5/7	81	75	6	61	61	0	strelka-mutect	VNN1,synonymous_variant,p.=,ENST00000367928,NM_004666.2;	A	ENST00000367928	Transcript	synonymous_variant	1166/3106	1152/1542	384/513	D	gaC/gaT	rs767890224	1		-1	VNN1	HGNC	HGNC:12705	protein_coding	YES	CCDS5159.1	ENSP00000356905	O95497		UPI000013C91E	NM_004666.2			5/7		hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF16,PIRSF_domain:PIRSF011861																	LOW	1	SNV	1			1										PASS		rs767890224	.												A	2	1	7	132692259	132692259	G	A	1	0	0	0	0	0	0	0	1	17729	1136	40	1		1	VNN1	6	132692259	Silent	SNP	G	C3L-00080_TP	2597928	132692259	38113720	290	2501											
VNN2	0	.	GRCh38	chr6	132757434	132757434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgggggtcttgacacGgaatccagttcacctgaggg	8	9	14	10	1	2	2	1	2	1	0	3	3	3	3	3	4	0	1	3	4	1	2	rs149351884		C3L-00080_TP	C3L-00080_NB	G	G																c.326C>A	p.Pro109Gln	p.P109Q	ENST00000326499	2/7	62	25	37	51	51	0	strelka-varscan-mutect	VNN2,missense_variant,p.Pro109Gln,ENST00000326499,NM_004665.4;VNN2,missense_variant,p.Pro56Gln,ENST00000525270,NM_078488.2;VNN2,missense_variant,p.Pro109Gln,ENST00000525289,NM_001242350.2;VNN2,missense_variant,p.Pro109Gln,ENST00000524919,;VNN2,missense_variant,p.Pro56Gln,ENST00000530536,;VNN2,downstream_gene_variant,,ENST00000532012,;RP1-55C23.7,downstream_gene_variant,,ENST00000430895,;VNN2,non_coding_transcript_exon_variant,,ENST00000526192,;VNN2,non_coding_transcript_exon_variant,,ENST00000526157,;VNN2,missense_variant,p.Pro109Gln,ENST00000392389,;VNN2,missense_variant,p.Pro109Gln,ENST00000422400,;VNN2,missense_variant,p.Pro109Gln,ENST00000418593,;VNN2,missense_variant,p.Pro109Gln,ENST00000525674,;VNN2,missense_variant,p.Pro109Gln,ENST00000533835,;VNN2,missense_variant,p.Pro109Gln,ENST00000532053,;VNN2,missense_variant,p.Pro109Gln,ENST00000528801,;VNN2,missense_variant,p.Pro56Gln,ENST00000531279,;	T	ENST00000326499	Transcript	missense_variant	451/2118	326/1563	109/520	P/Q	cCg/cAg	rs149351884,COSM3410595	1		-1	VNN2	HGNC	HGNC:12706	protein_coding	YES	CCDS5161.1	ENSP00000322276	O95498		UPI000014194E	NM_004665.4	deleterious(0)		2/7		PROSITE_profiles:PS50263,hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF15,PIRSF_domain:PIRSF011861,Gene3D:3.60.110.10,Pfam_domain:PF00795,Superfamily_domains:SSF56317											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs149351884	.												T	3	4	7	132757434	132757434	G	T	1	0	0	0	0	1	0	0	0	17730	1116	39	1		1	VNN2	6	132757434	Missense_Mutation	SNP	G	C3L-00080_TP	65175	132757434	38048545	291	2502											
BCLAF1	0	.	GRCh38	chr6	136269574	136269574	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctacggcgatcaatgtcatgCcgaaggtcagcagagtcaca	12	7	11	11	3	4	1	4	0	0	1	4	3	4	1	1	2	3	1	1	2	3	1	rs62431288		C3L-00080_TP	C3L-00080_NB	C	C																c.2082G>T	p.=	p.R694R	ENST00000531224	9/13	184	133	51	144	144	0	strelka-varscan-mutect	BCLAF1,synonymous_variant,p.=,ENST00000531224,NM_014739.2;BCLAF1,synonymous_variant,p.=,ENST00000353331,NM_001077440.1;BCLAF1,synonymous_variant,p.=,ENST00000527536,;BCLAF1,synonymous_variant,p.=,ENST00000527759,NM_001301038.1;BCLAF1,synonymous_variant,p.=,ENST00000530767,NM_001077441.1;BCLAF1,synonymous_variant,p.=,ENST00000392348,;BCLAF1,synonymous_variant,p.=,ENST00000628517,;BCLAF1,synonymous_variant,p.=,ENST00000529826,;BCLAF1,upstream_gene_variant,,ENST00000534762,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529917,;BCLAF1,synonymous_variant,p.=,ENST00000527613,;BCLAF1,synonymous_variant,p.=,ENST00000532384,;BCLAF1,synonymous_variant,p.=,ENST00000530429,;BCLAF1,3_prime_UTR_variant,,ENST00000534269,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000532076,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000534792,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000534321,;BCLAF1,upstream_gene_variant,,ENST00000529522,;BCLAF1,upstream_gene_variant,,ENST00000533422,;BCLAF1,downstream_gene_variant,,ENST00000476194,;BCLAF1,upstream_gene_variant,,ENST00000526228,;	A	ENST00000531224	Transcript	synonymous_variant	2335/7263	2082/2763	694/920	R	cgG/cgT	rs62431288	1		-1	BCLAF1	HGNC	HGNC:16863	protein_coding	YES	CCDS5177.1	ENSP00000435210	Q9NYF8		UPI000006FCE7	NM_014739.2			9/13		Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4																	LOW	1	SNV	1			1										PASS		rs62431288	.												A	2	1	7	136269574	136269574	C	A	1	0	0	0	0	0	0	0	1	1530	726	26	2		2	BCLAF1	6	136269574	Silent	SNP	C	C3L-00080_TP	3512140	136269574	34536405	292	2503											
OLIG3	0	.	GRCh38	chr6	137493983	137493983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttgctgctctctcccgcgGccttggcgccagcccgcgag	3	8	12	18	5	1	0	0	0	1	0	3	1	2	0	4	2	3	2	4	2	0	2	rs62434134		C3L-00080_TP	C3L-00080_NB	G	G																c.188C>A	p.Ala63Asp	p.A63D	ENST00000367734	1/1	579	368	211	422	422	0	strelka-varscan-mutect	OLIG3,missense_variant,p.Ala63Asp,ENST00000367734,NM_175747.2;	T	ENST00000367734	Transcript	missense_variant	268/2049	188/819	63/272	A/D	gCc/gAc	rs62434134	1		-1	OLIG3	HGNC	HGNC:18003	protein_coding	YES	CCDS5186.1	ENSP00000356708	Q7RTU3		UPI000006F9D6	NM_175747.2	tolerated(0.07)		1/1		hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF96																	MODERATE	1	SNV				1										PASS		rs62434134	.												T	3	4	7	137493983	137493983	G	T	1	0	0	0	0	1	0	0	0	10937	1203	42	2		2	OLIG3	6	137493983	Missense_Mutation	SNP	G	C3L-00080_TP	1224409	137493983	33311996	293	2504											
ARFGEF3	0	.	GRCh38	chr6	138334951	138334951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaaaaagaggaaacagcaGcacaacctgtccgcgttccc	15	5	8	13	2	0	1	0	0	0	1	2	2	2	2	3	1	5	3	3	1	5	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.6105G>T	p.Gln2035His	p.Q2035H	ENST00000251691	33/34	362	261	101	221	221	0	strelka-varscan-mutect	ARFGEF3,missense_variant,p.Gln2035His,ENST00000251691,NM_020340.4;	T	ENST00000251691	Transcript	missense_variant	6271/14877	6105/6534	2035/2177	Q/H	caG/caT		1		1	ARFGEF3	HGNC	HGNC:21213	protein_coding	YES	CCDS5189.2	ENSP00000251691	Q5TH69		UPI000150AF4A	NM_020340.4	tolerated(0.2)		33/34																			MODERATE	1	SNV	1			1										PASS		rs1477146541	.												T	3	4	7	138334951	138334951	G	T	1	0	0	0	0	1	0	0	0	977	962	34	2		2	ARFGEF3	6	138334951	Missense_Mutation	SNP	G	C3L-00080_TP	840968	138334951	32471028	294	2505											
GRM1	0	.	GRCh38	chr6	146434704	146434704	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagctcggtgcccagctccCccgtgtccgagtcggtgctc	3	8	13	17	4	0	0	0	0	0	0	5	1	2	0	4	2	4	4	4	2	0	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.3493C>A	p.Pro1165Thr	p.P1165T	ENST00000361719	9/9	455	390	65	360	359	1	strelka-varscan-mutect	GRM1,missense_variant,p.Pro1165Thr,ENST00000361719,;GRM1,missense_variant,p.Pro1165Thr,ENST00000282753,NM_001278064.1;GRM1,3_prime_UTR_variant,,ENST00000492807,NM_001278065.1,NM_001278066.1;GRM1,3_prime_UTR_variant,,ENST00000355289,NM_001278067.1;GRM1,3_prime_UTR_variant,,ENST00000507907,;	A	ENST00000361719	Transcript	missense_variant	3860/6754	3493/3585	1165/1194	P/T	Ccc/Acc		1		1	GRM1	HGNC	HGNC:4593	protein_coding	YES	CCDS5209.1	ENSP00000354896	Q13255		UPI000013DCFD		deleterious_low_confidence(0)		9/9		Low_complexity_(Seg):seg,Pfam_domain:PF10606,SMART_domains:SM01229																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	7	146434704	146434704	C	A	1	0	0	0	0	1	0	0	0	6678	623	22	2		2	GRM1	6	146434704	Missense_Mutation	SNP	C	C3L-00080_TP	8099753	146434704	24371275	295	2506											
ADGB	0	.	GRCh38	chr6	146685820	146685820	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaagatcttttcattaGagaagatggtaagcattcaa	18	11	7	5	0	3	3	2	0	1	3	3	4	3	3	0	1	2	2	0	1	7	5	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1303G>T	p.Glu435Ter	p.E435*	ENST00000397944	10/36	69	60	9	108	107	1	strelka-varscan-mutect	ADGB,stop_gained,p.Glu435Ter,ENST00000397944,NM_024694.3;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,non_coding_transcript_exon_variant,,ENST00000326929,;	T	ENST00000397944	Transcript	stop_gained	1379/5325	1303/5004	435/1667	E/*	Gag/Tag		1		1	ADGB	HGNC	HGNC:21212	protein_coding	YES		ENSP00000381036	Q8N7X0		UPI000020E382	NM_024694.3			10/36		SMART_domains:SM00230																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	7	146685820	146685820	G	T	1	0	0	0	0	0	1	0	0	351	943	33	2		2	ADGB	6	146685820	Nonsense_Mutation	SNP	G	C3L-00080_TP	251116	146685820	24120159	296	2507											
ULBP1	0	.	GRCh38	chr6	149968818	149968818	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acactaagagacgtggtggaTttccttaaagggcaactgct	12	10	11	8	1	0	1	0	0	0	1	1	3	1	2	1	3	2	2	1	3	4	3	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.297T>C	p.=	p.D99D	ENST00000229708	2/5	205	172	33	164	164	0	strelka-varscan-mutect	ULBP1,synonymous_variant,p.=,ENST00000229708,NM_025218.2;	C	ENST00000229708	Transcript	synonymous_variant	340/3142	297/735	99/244	D	gaT/gaC		1		1	ULBP1	HGNC	HGNC:14893	protein_coding	YES	CCDS5223.1	ENSP00000229708	Q9BZM6		UPI000006D47B	NM_025218.2			2/5		Gene3D:3.30.500.10,Pfam_domain:PF00129,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF170,Superfamily_domains:SSF54452																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	7	149968818	149968818	T	C	1	0	0	0	0	0	0	0	1	17496	1490	52	5		5	ULBP1	6	149968818	Silent	SNP	T	C3L-00080_TP	3282998	149968818	20837161	297	2508											
MTHFD1L	0	.	GRCh38	chr6	151009887	151009887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcaagtgccgagcttccGgcttggtgcccaacgtggtt	7	10	12	12	3	1	0	1	0	0	0	2	1	2	0	3	3	4	3	3	3	2	3	rs539434475		C3L-00080_TP	C3L-00080_NB	G	G																c.2197G>T	p.Gly733Cys	p.G733C	ENST00000611279	21/28	267	211	56	231	231	0	strelka-mutect	MTHFD1L,missense_variant,p.Gly732Cys,ENST00000367321,NM_015440.4;MTHFD1L,missense_variant,p.Gly733Cys,ENST00000611279,NM_001242767.1;MTHFD1L,missense_variant,p.Gly667Cys,ENST00000618312,NM_001242768.1;MTHFD1L,upstream_gene_variant,,ENST00000420192,;MTHFD1L,non_coding_transcript_exon_variant,,ENST00000478643,;	T	ENST00000611279	Transcript	missense_variant	2341/3475	2197/2940	733/979	G/C	Ggc/Tgc	rs539434475	1		1	MTHFD1L	HGNC	HGNC:21055	protein_coding	YES	CCDS75535.1	ENSP00000478253		B7ZM99	UPI000166C73D	NM_001242767.1	deleterious(0)		21/28		Low_complexity_(Seg):seg,HAMAP:MF_01543,hmmpanther:PTHR10025,hmmpanther:PTHR10025:SF14,Gene3D:3.40.50.300,Pfam_domain:PF01268,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		rs539434475	.												T	3	4	7	151009887	151009887	G	T	1	0	0	0	0	1	0	0	0	9917	1116	39	1		1	MTHFD1L	6	151009887	Missense_Mutation	SNP	G	C3L-00080_TP	1041069	151009887	19796092	298	2509											
SYNE1	0	.	GRCh38	chr6	152447511	152447511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggataattttgccagctCatctccctgcttttgggctt	5	16	9	11	0	2	0	1	0	1	0	3	1	2	1	2	2	3	4	2	2	1	6	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.3616G>C	p.Glu1206Gln	p.E1206Q	ENST00000367255	29/146	296	249	47	248	248	0	strelka-varscan-mutect	SYNE1,missense_variant,p.Glu1206Gln,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Glu1213Gln,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Glu1255Gln,ENST00000341594,;SYNE1,missense_variant,p.Glu1196Gln,ENST00000367248,;SYNE1,missense_variant,p.Glu1206Gln,ENST00000367253,;SYNE1,missense_variant,p.Glu1206Gln,ENST00000413186,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	G	ENST00000367255	Transcript	missense_variant	4218/27748	3616/26394	1206/8797	E/Q	Gag/Cag		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			29/146		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	152447511	152447511	C	G	1	0	0	0	0	1	0	0	0	15837	835	29	4		4	SYNE1	6	152447511	Missense_Mutation	SNP	C	C3L-00080_TP	1437624	152447511	18358468	299	2510											
SYNE1	0	.	GRCh38	chr6	152511575	152511575	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaatttgtactaaccggtGatcctctgtgcatggactga	11	13	9	8	1	1	2	0	2	1	0	2	3	2	3	2	2	3	2	2	2	4	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.326C>G	p.Ser109Ter	p.S109*	ENST00000423061	6/146	145	131	14	190	190	0	strelka-varscan-mutect	SYNE1,stop_gained,p.Ser109Ter,ENST00000423061,NM_033071.3;SYNE1,stop_gained,p.Ser109Ter,ENST00000367248,;SYNE1,stop_gained,p.Ser92Ter,ENST00000610489,;SYNE1,intron_variant,,ENST00000367255,NM_182961.3;SYNE1,intron_variant,,ENST00000341594,;SYNE1,intron_variant,,ENST00000367253,;SYNE1,intron_variant,,ENST00000413186,;SYNE1,intron_variant,,ENST00000537750,;SYNE1,intron_variant,,ENST00000466159,;SYNE1,intron_variant,,ENST00000461872,;	C	ENST00000423061	Transcript	stop_gained	763/27436	326/26250	109/8749	S/*	tCa/tGa		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding		CCDS5235.1	ENSP00000396024		A0A0C4DG40	UPI0000110103	NM_033071.3			6/146		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00033,Superfamily_domains:SSF47576																	HIGH		SNV	1			1										PASS		.	.												C	4	2	7	152511575	152511575	G	C	1	0	0	0	0	0	1	0	0	15837	1304	45	4		4	SYNE1	6	152511575	Nonsense_Mutation	SNP	G	C3L-00080_TP	64064	152511575	18294404	300	2511											
LPA	0	.	GRCh38	chr6	160531795	160531795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgagcatagacaccaggCttattggggcgtgcacagcc	11	6	12	12	2	0	1	0	0	0	1	0	2	0	1	2	3	3	3	2	3	2	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.6057G>T	p.Lys2019Asn	p.K2019N	ENST00000316300	39/39	378	305	73	335	335	0	strelka-varscan-mutect	LPA,missense_variant,p.Lys2019Asn,ENST00000316300,NM_005577.2;	A	ENST00000316300	Transcript	missense_variant	6102/6414	6057/6123	2019/2040	K/N	aaG/aaT		1		-1	LPA	HGNC	HGNC:6667	protein_coding	YES	CCDS43523.1	ENSP00000321334	P08519		UPI0000458AC9	NM_005577.2	deleterious(0.01)		39/39		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24261,hmmpanther:PTHR24261:SF2,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	160531795	160531795	C	A	1	0	0	0	0	1	0	0	0	8806	796	28	2		2	LPA	6	160531795	Missense_Mutation	SNP	C	C3L-00080_TP	8020220	160531795	10274184	301	2512											
C6orf118	0	.	GRCh38	chr6	165298053	165298053	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggcgagatccatgtccgCcgtcttcaccggcctctgcc	4	9	10	18	4	3	1	1	0	2	1	5	2	5	1	7	2	1	0	7	2	0	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.985G>C	p.Ala329Pro	p.A329P	ENST00000230301	5/9	112	61	51	90	90	0	strelka-varscan-mutect	C6orf118,missense_variant,p.Ala329Pro,ENST00000230301,NM_144980.3;C6orf118,upstream_gene_variant,,ENST00000494696,;	G	ENST00000230301	Transcript	missense_variant	1006/1812	985/1410	329/469	A/P	Gcg/Ccg		1		-1	C6orf118	HGNC	HGNC:21233	protein_coding	YES	CCDS5288.1	ENSP00000230301	Q5T5N4		UPI0000367401	NM_144980.3	tolerated(0.06)		5/9		hmmpanther:PTHR34916,Pfam_domain:PF15739																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	165298053	165298053	C	G	1	0	0	0	0	1	0	0	0	2115	739	26	4		4	C6orf118	6	165298053	Missense_Mutation	SNP	C	C3L-00080_TP	4766258	165298053	5507926	302	2513											
KIF25	0	.	GRCh38	chr6	168030803	168030803	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagagtctcagagcgcGgtctttggagatgtgtgccc	7	9	14	11	2	2	3	1	0	2	3	3	4	2	3	2	2	3	1	2	2	0	1	rs775332458		C3L-00080_TP	C3L-00080_NB	G	G																c.123G>T	p.=	p.A41A	ENST00000443060	4/10	93	60	33	83	83	0	strelka-varscan-mutect	KIF25,synonymous_variant,p.=,ENST00000443060,;KIF25,synonymous_variant,p.=,ENST00000354419,NM_030615.2;KIF25,synonymous_variant,p.=,ENST00000351261,NM_005355.3;KIF25,upstream_gene_variant,,ENST00000496008,;KIF25,downstream_gene_variant,,ENST00000515361,;KIF25,non_coding_transcript_exon_variant,,ENST00000504593,;	T	ENST00000443060	Transcript	synonymous_variant	514/1613	123/1155	41/384	A	gcG/gcT	rs775332458	1		1	KIF25	HGNC	HGNC:6390	protein_coding	YES	CCDS5305.1	ENSP00000388878	Q9UIL4		UPI000012DDAB				4/10		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF421,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		rs775332458	.												T	2	4	7	168030803	168030803	G	T	1	0	0	0	0	0	0	0	1	8158	1103	39	1		1	KIF25	6	168030803	Silent	SNP	G	C3L-00080_TP	2732750	168030803	2775176	303	2514											
UNCX	0	.	GRCh38	chr7	1236585	1236585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcaagggcggcgcgggcCtggagccggcgcccaaggac	6	2	18	15	6	1	0	1	0	0	0	1	2	1	2	3	6	1	1	3	6	2	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1204C>T	p.=	p.L402L	ENST00000316333	3/3	79	64	15	44	44	0	strelka-varscan-mutect	UNCX,synonymous_variant,p.=,ENST00000316333,NM_001080461.1;	T	ENST00000316333	Transcript	synonymous_variant	1315/2048	1204/1596	402/531	L	Ctg/Ttg		1		1	UNCX	HGNC	HGNC:33194	protein_coding	YES	CCDS34583.1	ENSP00000314480	A6NJT0		UPI0000D61BE6	NM_001080461.1			3/3																			LOW	1	SNV	1			1										PASS		rs1391348357	.												T	2	4	7	1236585	1236585	C	T	1	0	0	0	0	0	0	0	1	17524	680	24	3		3	UNCX	7	1236585	Silent	SNP	C	C3L-00080_TP		1236585	158109388	304	2515											
FOXK1	0	.	GRCh38	chr7	4682585	4682585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgccggccctggtggccGcggcggccgcctcggtacgg	1	4	19	17	9	0	0	0	0	0	0	1	0	0	0	5	8	1	1	5	8	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.277G>T	p.Ala93Ser	p.A93S	ENST00000328914	1/9	40	26	14	14	14	0	strelka-varscan-mutect	FOXK1,missense_variant,p.Ala93Ser,ENST00000328914,NM_001037165.1;	T	ENST00000328914	Transcript	missense_variant	277/11181	277/2202	93/733	A/S	Gcg/Tcg		1		1	FOXK1	HGNC	HGNC:23480	protein_coding	YES	CCDS34591.1	ENSP00000328720	P85037		UPI00004158EB	NM_001037165.1	tolerated_low_confidence(1)		1/9		Low_complexity_(Seg):seg,Superfamily_domains:SSF49879																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	7	4682585	4682585	G	T	1	0	0	0	0	1	0	0	0	5877	1087	38	1		1	FOXK1	7	4682585	Missense_Mutation	SNP	G	C3L-00080_TP	3446000	4682585	154663388	305	2516											
FAM220A	0	.	GRCh38	chr7	6331086	6331086	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcatgatagtttgtcCgagtcacctcctccggcctg	6	11	11	13	2	1	1	1	1	0	0	4	2	4	1	5	2	1	3	5	2	1	2	rs200129623		C3L-00080_TP	C3L-00080_NB	C	C																c.69G>C	p.=	p.S23S	ENST00000313324	2/2	248	202	46	236	236	0	strelka-varscan-mutect	FAM220A,synonymous_variant,p.=,ENST00000313324,NM_001037163.1;FAM220A,synonymous_variant,p.=,ENST00000616824,;FAM220A,synonymous_variant,p.=,ENST00000530143,;FAM220A,synonymous_variant,p.=,ENST00000524898,;FAM220A,downstream_gene_variant,,ENST00000578372,;FAM220A,downstream_gene_variant,,ENST00000533877,;	G	ENST00000313324	Transcript	synonymous_variant	537/2214	69/780	23/259	S	tcG/tcC	rs200129623,COSM4682946	1		-1	FAM220A	HGNC	HGNC:22422	protein_coding	YES	CCDS34599.1	ENSP00000317289	Q7Z4H9		UPI000013F4F0	NM_001037163.1			2/2		Pfam_domain:PF15487,hmmpanther:PTHR31980,hmmpanther:PTHR31980:SF2											0,1						LOW	1	SNV	1		0,1	1										PASS		rs200129623	.												G	2	3	7	6331086	6331086	C	G	1	0	0	0	0	0	0	0	1	5413	639	23	4		4	FAM220A	7	6331086	Silent	SNP	C	C3L-00080_TP	1648501	6331086	153014887	306	2517											
ABCB5	0	.	GRCh38	chr7	20643191	20643191	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actctttcttcaggttgaccCtgtattatgttggaataggt	8	17	9	7	0	3	1	1	1	2	0	3	2	3	2	1	3	0	3	1	3	4	7	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.322C>T	p.=	p.L108L	ENST00000404938	6/28	85	59	26	98	98	0	strelka-varscan-mutect	ABCB5,synonymous_variant,p.=,ENST00000404938,NM_001163941.1;ABCB5,upstream_gene_variant,,ENST00000258738,NM_178559.5;ABCB5,upstream_gene_variant,,ENST00000443026,NM_001163942.1;ABCB5,upstream_gene_variant,,ENST00000406935,NM_001163993.2;ABCB5,upstream_gene_variant,,ENST00000477094,;AC002486.3,upstream_gene_variant,,ENST00000435098,;	T	ENST00000404938	Transcript	synonymous_variant	974/5811	322/3774	108/1257	L	Ctg/Ttg		1		1	ABCB5	HGNC	HGNC:46	protein_coding	YES	CCDS55090.1	ENSP00000384881	Q2M3G0		UPI000173A253	NM_001163941.1			6/28		Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,Superfamily_domains:SSF90123,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	20643191	20643191	C	T	1	0	0	0	0	0	0	0	1	48	680	24	3		3	ABCB5	7	20643191	Silent	SNP	C	C3L-00080_TP	14312105	20643191	138702782	307	2518											
DNAH11	0	.	GRCh38	chr7	21773934	21773934	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaagaagaagcaaaatGaggtatccgagaaaaaagaa	21	6	11	3	1	0	6	0	2	0	4	1	7	1	6	1	1	1	3	1	1	10	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.9271G>T	p.Glu3091Ter	p.E3091*	ENST00000409508	56/82	113	81	32	96	96	0	strelka-varscan-mutect	DNAH11,stop_gained,p.Glu3091Ter,ENST00000409508,NM_001277115.1;DNAH11,stop_gained,p.Glu3098Ter,ENST00000328843,;DNAH11,stop_gained,p.Glu3098Ter,ENST00000620169,;	T	ENST00000409508	Transcript	stop_gained	9302/14167	9271/13551	3091/4516	E/*	Gag/Tag		1		1	DNAH11	HGNC	HGNC:2942	protein_coding	YES	CCDS64602.1	ENSP00000475939	Q96DT5		UPI0002B8CE70	NM_001277115.1			56/82		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676:SF263,hmmpanther:PTHR10676,Superfamily_domains:SSF52540																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	7	21773934	21773934	G	T	1	0	0	0	0	0	1	0	0	4413	1291	45	2		2	DNAH11	7	21773934	Nonsense_Mutation	SNP	G	C3L-00080_TP	1130743	21773934	137572039	308	2519											
MPP6	0	.	GRCh38	chr7	24665613	24665613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtaaaagagggaggaaGcgctggtctcattccaagcc	12	7	12	10	1	1	1	1	0	1	1	3	3	2	3	3	3	2	2	3	3	4	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.809G>T	p.Ser270Ile	p.S270I	ENST00000222644	7/12	198	155	43	163	163	0	strelka-varscan-mutect	MPP6,missense_variant,p.Ser270Ile,ENST00000222644,NM_001303037.1,NM_016447.3;MPP6,missense_variant,p.Ser270Ile,ENST00000396475,;MPP6,missense_variant,p.Ser158Ile,ENST00000409761,;MPP6,missense_variant,p.Ser270Ile,ENST00000430180,;MPP6,non_coding_transcript_exon_variant,,ENST00000472674,;MPP6,upstream_gene_variant,,ENST00000464384,;	T	ENST00000222644	Transcript	missense_variant	1059/8452	809/1623	270/540	S/I	aGc/aTc		1		1	MPP6	HGNC	HGNC:18167	protein_coding	YES	CCDS5388.1	ENSP00000222644	Q9NZW5	A0A024RA25	UPI0000001C1B	NM_001303037.1,NM_016447.3	tolerated(0.08)		7/12		Gene3D:2.30.30.40,Pfam_domain:PF07653,PROSITE_profiles:PS50002,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF44,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	24665613	24665613	G	T	1	0	0	0	0	1	0	0	0	9704	971	34	2		2	MPP6	7	24665613	Missense_Mutation	SNP	G	C3L-00080_TP	2891679	24665613	134680360	309	2520											
OSBPL3	0	.	GRCh38	chr7	24849121	24849121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggggagtcgaggagcagaGactcggcatggattctgcgt	8	7	18	8	4	1	1	0	0	1	1	3	6	1	4	0	5	2	2	0	5	0	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1214C>T	p.Ser405Phe	p.S405F	ENST00000313367	12/23	211	152	59	174	174	0	strelka-varscan-mutect	OSBPL3,missense_variant,p.Ser405Phe,ENST00000313367,NM_015550.3;OSBPL3,missense_variant,p.Ser374Phe,ENST00000396431,NM_145320.2;OSBPL3,intron_variant,,ENST00000396429,NM_145321.2;OSBPL3,intron_variant,,ENST00000409069,NM_145322.2;OSBPL3,missense_variant,p.Ser374Phe,ENST00000409863,;OSBPL3,missense_variant,p.Ser405Phe,ENST00000409452,;OSBPL3,non_coding_transcript_exon_variant,,ENST00000461835,;OSBPL3,intron_variant,,ENST00000409759,;OSBPL3,intron_variant,,ENST00000409555,;	A	ENST00000313367	Transcript	missense_variant	1666/6760	1214/2664	405/887	S/F	tCt/tTt		1		-1	OSBPL3	HGNC	HGNC:16370	protein_coding	YES	CCDS5390.1	ENSP00000315410	Q9H4L5		UPI0000001244	NM_015550.3	deleterious(0)		12/23		hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	24849121	24849121	G	A	1	0	0	0	0	1	0	0	0	11345	942	33	3		3	OSBPL3	7	24849121	Missense_Mutation	SNP	G	C3L-00080_TP	183508	24849121	134496852	310	2521											
HOXA3	0	.	GRCh38	chr7	27110213	27110213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgagttgagcagggggCtcttggccgcgttggcaggg	4	9	21	7	2	1	2	0	2	1	0	1	2	1	2	1	6	1	5	1	6	0	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.428G>A	p.Ser143Asn	p.S143N	ENST00000612286	3/4	335	276	59	204	204	0	strelka-varscan-mutect	HOXA3,missense_variant,p.Ser143Asn,ENST00000612286,NM_153631.2;HOXA3,missense_variant,p.Ser143Asn,ENST00000396352,NM_030661.4;HOXA3,missense_variant,p.Ser143Asn,ENST00000317201,;HOXA3,downstream_gene_variant,,ENST00000522788,;HOXA3,downstream_gene_variant,,ENST00000522456,;HOXA-AS2,intron_variant,,ENST00000518088,;HOXA-AS2,upstream_gene_variant,,ENST00000522193,;HOXA3,downstream_gene_variant,,ENST00000521401,;	T	ENST00000612286	Transcript	missense_variant	767/3396	428/1332	143/443	S/N	aGc/aAc		1		-1	HOXA3	HGNC	HGNC:5104	protein_coding	YES	CCDS5404.1	ENSP00000484411	O43365	A0A024RA33	UPI000012CF22	NM_153631.2	tolerated(0.21)		3/4		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF137																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	7	27110213	27110213	C	T	1	0	0	0	0	1	0	0	0	7187	797	28	3		3	HOXA3	7	27110213	Missense_Mutation	SNP	C	C3L-00080_TP	2261092	27110213	132235760	311	2522											
ADCYAP1R1	0	.	GRCh38	chr7	31086486	31086486	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcactctgctggtggagAccttcttccctgaaaggaga	8	12	10	11	0	4	3	1	1	3	2	5	5	5	3	2	3	1	1	2	3	1	3	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.772A>T	p.Thr258Ser	p.T258S	ENST00000614107	10/17	226	198	28	157	157	0	strelka-varscan-mutect	ADCYAP1R1,missense_variant,p.Thr258Ser,ENST00000614107,NM_001199635.1,NM_001199636.1;ADCYAP1R1,missense_variant,p.Thr258Ser,ENST00000304166,NM_001118.4;ADCYAP1R1,missense_variant,p.Thr237Ser,ENST00000409363,NM_001199637.1;ADCYAP1R1,missense_variant,p.Thr258Ser,ENST00000409489,;ADCYAP1R1,missense_variant,p.Thr258Ser,ENST00000396211,;ADCYAP1R1,upstream_gene_variant,,ENST00000436116,;	T	ENST00000614107	Transcript	missense_variant	1061/6575	772/1491	258/496	T/S	Acc/Tcc		1		1	ADCYAP1R1	HGNC	HGNC:242	protein_coding	YES	CCDS56480.1	ENSP00000483721	P41586		UPI0000DA58BA	NM_001199635.1,NM_001199636.1	tolerated(1)		10/17		Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF228,Superfamily_domains:SSF81321																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	7	31086486	31086486	A	T	1	0	0	0	0	1	0	0	0	347	275	10	4		4	ADCYAP1R1	7	31086486	Missense_Mutation	SNP	A	C3L-00080_TP	3976273	31086486	128259487	312	2523											
GPR141	0	.	GRCh38	chr7	37740483	37740483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcatagtgcttattggCgggctggtgggtgtcatttc	5	16	13	7	1	2	0	2	0	0	0	3	0	2	0	0	4	2	2	0	4	3	6	rs368456046		C3L-00080_TP	C3L-00080_NB	C	C																c.90C>T	p.=	p.G30G	ENST00000447769	4/4	146	109	37	81	81	0	strelka-varscan-mutect	GPR141,synonymous_variant,p.=,ENST00000447769,;GPR141,synonymous_variant,p.=,ENST00000334425,NM_181791.1;GPR141,synonymous_variant,p.=,ENST00000450180,;EPDR1,intron_variant,,ENST00000476620,;GPR141,intron_variant,,ENST00000461610,;	T	ENST00000447769	Transcript	synonymous_variant	379/1270	90/918	30/305	G	ggC/ggT	rs368456046,COSM161345	1		1	GPR141	HGNC	HGNC:19997	protein_coding	YES	CCDS5451.1	ENSP00000390410	Q7Z602		UPI000004B92B				4/4		Transmembrane_helices:TMhelix,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF0,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											0,1						LOW	1	SNV	3		0,1	1										PASS		rs368456046	.												T	2	4	7	37740483	37740483	C	T	1	0	0	0	0	0	0	0	1	6535	755	27	1		1	GPR141	7	37740483	Silent	SNP	C	C3L-00080_TP	6653997	37740483	121605490	313	2524											
ABCA13	0	.	GRCh38	chr7	48229915	48229915	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactgaatgtgaccatttcGacactgacatttctgcagca	11	12	8	10	1	1	3	0	3	1	0	2	4	1	3	1	0	3	3	1	0	2	3	rs754765359		C3L-00080_TP	C3L-00080_NB	G	G																c.723G>A	p.=	p.S241S	ENST00000435803	7/62	175	131	44	149	149	0	strelka-varscan-mutect	ABCA13,synonymous_variant,p.=,ENST00000435803,NM_152701.4;ABCA13,synonymous_variant,p.=,ENST00000417403,;	A	ENST00000435803	Transcript	synonymous_variant	747/17184	723/15177	241/5058	S	tcG/tcA	rs754765359,COSM3881460,COSM3881461	1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4			7/62													0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs754765359	.												A	2	1	7	48229915	48229915	G	A	1	0	0	0	0	0	0	0	1	35	1045	37	1		1	ABCA13	7	48229915	Silent	SNP	G	C3L-00080_TP	10489432	48229915	111116058	314	2525											
POM121L12	0	.	GRCh38	chr7	53036065	53036065	+	Missense_Mutation	SNP	C	C	T																															gtcgtgcctggaacccaggaCggacctggagcccggtgacc																								rs371219263		C3L-00080_TP	C3L-00080_NB	C	C																c.394C>T	p.Arg132Trp	p.R132W	ENST00000408890	1/1	434	316	118	348	348	0	strelka-varscan-mutect	POM121L12,missense_variant,p.Arg132Trp,ENST00000408890,NM_182595.3;	T	ENST00000408890	Transcript	missense_variant	424/1283	394/891	132/296	R/W	Cgg/Tgg	rs371219263,COSM4169357	1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3	tolerated(0.2)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30											0,1						MODERATE	1	SNV			0,1	1										PASS		rs371219263	.												T	3	4	7	53036065	53036065	C	T	1	0	0	0	0	1	0	0	0	12352	527	19	1		1	POM121L12	7	53036065	Missense_Mutation	SNP	C	C3L-00080_TP	4806150	53036065	106309908	315	2526	58	2									
POM121L12	0	.	GRCh38	chr7	53036066	53036066	+	Missense_Mutation	SNP	G	G	T																															tcgtgcctggaacccaggacGgacctggagcccggtgacca																								rs763758598		C3L-00080_TP	C3L-00080_NB	G	G																c.395G>T	p.Arg132Leu	p.R132L	ENST00000408890	1/1	438	317	121	354	354	0	strelka-varscan-mutect	POM121L12,missense_variant,p.Arg132Leu,ENST00000408890,NM_182595.3;	T	ENST00000408890	Transcript	missense_variant	425/1283	395/891	132/296	R/L	cGg/cTg	rs763758598,COSM1622966	1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3	tolerated(0.52)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30											0,1						MODERATE	1	SNV			0,1	1										PASS		rs763758598	.												T	3	4	7	53036066	53036066	G	T	1	0	0	0	0	1	0	0	0	12352	1116	39	1		1	POM121L12	7	53036066	Missense_Mutation	SNP	G	C3L-00080_TP	1	53036066	106309907	316	2527	58	2									
ZNF479	0	.	GRCh38	chr7	57119852	57119852	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccatattattcacatttGtagggtttctctccagtgtg	7	18	8	8	0	2	0	1	0	1	0	4	0	3	0	2	1	1	2	2	1	3	7	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1563C>A	p.Tyr521Ter	p.Y521*	ENST00000331162	5/5	167	122	45	161	161	0	strelka-varscan-mutect	ZNF479,stop_gained,p.Tyr521Ter,ENST00000331162,NM_033273.2;ZNF479,stop_gained,p.Tyr521Ter,ENST00000319636,;ZNF479,stop_gained,p.Tyr409Ter,ENST00000620639,;	T	ENST00000331162	Transcript	stop_gained	1834/2072	1563/1575	521/524	Y/*	taC/taA		1		-1	ZNF479	HGNC	HGNC:23258	protein_coding	YES	CCDS43590.1	ENSP00000333776	Q96JC4		UPI000006E615	NM_033273.2			5/5		Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	7	57119852	57119852	G	T	1	0	0	0	0	0	1	0	0	18505	1372	48	2		2	ZNF479	7	57119852	Nonsense_Mutation	SNP	G	C3L-00080_TP	4083786	57119852	102226121	317	2528											
ZNF716	0	.	GRCh38	chr7	57469181	57469181	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatactggagagaaaccCtacagatgtgaggaatgtgg	14	9	12	6	0	1	3	1	1	0	2	1	6	1	5	1	3	3	0	1	3	4	3	rs10262770		C3L-00080_TP	C3L-00080_NB	C	C																c.720C>A	p.=	p.P240P	ENST00000420713	4/4	164	117	47	117	117	0	strelka-varscan-mutect	ZNF716,synonymous_variant,p.=,ENST00000420713,NM_001159279.1;	A	ENST00000420713	Transcript	synonymous_variant	832/5197	720/1488	240/495	P	ccC/ccA	rs10262770	1		1	ZNF716	HGNC	HGNC:32458	protein_coding	YES	CCDS55112.1	ENSP00000394248	A6NP11		UPI00004192FD	NM_001159279.1			4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,Superfamily_domains:SSF57667																	LOW	1	SNV	4			1										PASS		rs10262770	.												A	2	1	7	57469181	57469181	C	A	1	0	0	0	0	0	0	0	1	18694	668	24	2		2	ZNF716	7	57469181	Silent	SNP	C	C3L-00080_TP	349329	57469181	101876792	318	2529											
ZNF727	0	.	GRCh38	chr7	64077540	64077552	+	Frame_Shift_Del	DEL	AGAAAATTTTTAG	AGAAAATTTTTAG	-																															ctcaatcttcactgaacataAgaaaatttttagcagagaga																								novel		C3L-00080_TP	C3L-00080_NB	AGAAAATTTTTAG	AGAAAATTTTTAG																c.491_503delAGAAAATTTTTAG	p.Lys164ThrfsTer198	p.K164Tfs*198	ENST00000456806	4/4	99	85	14	166	166	0	sindel-varindel-pindel	ZNF727,frameshift_variant,p.Lys164ThrfsTer198,ENST00000456806,NM_001159522.1;	-	ENST00000456806	Transcript	frameshift_variant	670-682/1679	491-503/1500	164-168/499	KKIFS/X	aAGAAAATTTTTAGc/ac		1		1	ZNF727	HGNC	HGNC:22785	protein_coding	YES	CCDS55113.1	ENSP00000485448	A8MUV8		UPI0001A23134	NM_001159522.1			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF98,hmmpanther:PTHR24384,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	HIGH	1	deletion	4			1										PASS		.	.												-	7	5	7	64077540	64077540	AGAAAATTTTTAG	-	1	0	1	0	1	0	0	0	0	18701	72	3	0		0	ZNF727	7	64077540	Frame_Shift_Del	DEL	AGAAAATTTTTAG	C3L-00080_TP	6608359	64077540	95268433	319	2530											
FZD9	0	.	GRCh38	chr7	73435106	73435106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcctggggcctgcccGcgctcaagaccatcgtcatc	5	8	12	16	3	2	1	2	0	0	1	4	1	2	1	4	3	2	2	4	3	1	0	rs542138331		C3L-00080_TP	C3L-00080_NB	G	G																c.1099G>A	p.Ala367Thr	p.A367T	ENST00000344575	1/1	72	54	18	109	109	0	strelka-varscan-mutect	FZD9,missense_variant,p.Ala367Thr,ENST00000344575,NM_003508.2;	A	ENST00000344575	Transcript	missense_variant	1324/2338	1099/1776	367/591	A/T	Gcg/Acg	rs542138331	1		1	FZD9	HGNC	HGNC:4047	protein_coding	YES	CCDS5548.1	ENSP00000345785	O00144		UPI000004EC98	NM_003508.2	deleterious(0)		1/1		Pfam_domain:PF01534,Prints_domain:PR00489,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79,SMART_domains:SM01330,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs542138331	.												A	3	1	7	73435106	73435106	G	A	1	0	0	0	0	1	0	0	0	6008	1087	38	1		1	FZD9	7	73435106	Missense_Mutation	SNP	G	C3L-00080_TP	9357566	73435106	85910867	320	2531											
SSC4D	0	.	GRCh38	chr7	76395269	76395269	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttaccggacggatctgtctgCcaagcccagtcctctcttgt	6	12	9	14	2	3	0	0	0	3	0	5	2	4	2	4	2	3	0	4	2	2	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.930G>A	p.Trp310Ter	p.W310*	ENST00000275560	7/11	144	97	47	230	230	0	strelka-varscan-mutect	SSC4D,stop_gained,p.Trp310Ter,ENST00000275560,NM_080744.1;ZP3,upstream_gene_variant,,ENST00000336517,NM_007155.5;SSC4D,upstream_gene_variant,,ENST00000492979,;	T	ENST00000275560	Transcript	stop_gained	1278/2801	930/1728	310/575	W/*	tgG/tgA		1		-1	SSC4D	HGNC	HGNC:14461	protein_coding	YES	CCDS5585.1	ENSP00000275560	Q8WTU2		UPI000006D197	NM_080744.1			7/11		hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF276																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	7	76395269	76395269	C	T	1	0	0	0	0	0	1	0	0	15557	740	26	3		3	SSC4D	7	76395269	Nonsense_Mutation	SNP	C	C3L-00080_TP	2960163	76395269	82950704	321	2532											
HGF	0	.	GRCh38	chr7	81729604	81729604	+	Splice_Site	SNP	C	C	A																															acatttgcctactttactcaCttgcacttgaaattttcagg																								novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1040+1G>T		p.X347_splice	ENST00000222390		291	259	32	293	293	0	strelka-varscan-mutect	HGF,splice_donor_variant,,ENST00000222390,NM_000601.4;HGF,splice_donor_variant,,ENST00000457544,NM_001010932.1;	A	ENST00000222390	Transcript	splice_donor_variant	-/5989	1040/2187	347/728				1		-1	HGF	HGNC	HGNC:4893	protein_coding	YES	CCDS5597.1	ENSP00000222390	P14210		UPI000000D92B	NM_000601.4				8/17																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	7	81729604	81729604	C	A	1	0	0	0	0	0	0	1	0	6969	579	20	2		2	HGF	7	81729604	Splice_Site	SNP	C	C3L-00080_TP	5334335	81729604	77616369	322	2533	59	2									
HGF	0	.	GRCh38	chr7	81729606	81729606	+	Missense_Mutation	SNP	T	T	G																															atttgcctactttactcactTgcacttgaaattttcaggag																								novel		C3L-00080_TP	C3L-00080_NB	T	T																c.1039A>C	p.Lys347Gln	p.K347Q	ENST00000222390	8/18	292	259	33	288	287	1	strelka-varscan-mutect	HGF,missense_variant,p.Lys347Gln,ENST00000222390,NM_000601.4;HGF,missense_variant,p.Lys342Gln,ENST00000457544,NM_001010932.1;	G	ENST00000222390	Transcript	missense_variant,splice_region_variant	1266/5989	1039/2187	347/728	K/Q	Aag/Cag		1		-1	HGF	HGNC	HGNC:4893	protein_coding	YES	CCDS5597.1	ENSP00000222390	P14210		UPI000000D92B	NM_000601.4	deleterious(0.02)		8/18		PROSITE_profiles:PS50070,hmmpanther:PTHR24256:SF190,hmmpanther:PTHR24256,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152,Gene3D:2.40.20.10,Pfam_domain:PF00051,SMART_domains:SM00130,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	81729606	81729606	T	G	1	0	0	0	0	1	0	0	0	6969	1826	63	5		5	HGF	7	81729606	Missense_Mutation	SNP	T	C3L-00080_TP	2	81729606	77616367	323	2534	59	2									
RUNDC3B	0	.	GRCh38	chr7	87829979	87829979	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcttaaaatctaatgactaCcttgcaagtcctacaacaga	16	10	5	10	0	1	2	0	1	1	1	2	2	2	2	2	0	5	2	2	0	7	5	rs780246287		C3L-00080_TP	C3L-00080_NB	C	C																c.1371C>G	p.Tyr457Ter	p.Y457*	ENST00000338056	12/12	67	50	17	71	71	0	strelka-varscan-mutect	RUNDC3B,stop_gained,p.Tyr457Ter,ENST00000338056,NM_138290.2;RUNDC3B,stop_gained,p.Tyr440Ter,ENST00000394654,NM_001134405.1;RUNDC3B,stop_gained,p.Tyr391Ter,ENST00000493037,NM_001134406.1;SLC25A40,downstream_gene_variant,,ENST00000341119,NM_018843.3;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000312373,;	G	ENST00000338056	Transcript	stop_gained	1782/4099	1371/1422	457/473	Y/*	taC/taG	rs780246287	1		1	RUNDC3B	HGNC	HGNC:30286	protein_coding	YES	CCDS5609.1	ENSP00000337732	Q96NL0		UPI0000071425	NM_138290.2			12/12		hmmpanther:PTHR22835:SF124,hmmpanther:PTHR22835																	HIGH		SNV	2			1										PASS		rs780246287	.												G	4	3	7	87829979	87829979	C	G	1	0	0	0	0	0	1	0	0	14006	518	18	4		4	RUNDC3B	7	87829979	Nonsense_Mutation	SNP	C	C3L-00080_TP	6100373	87829979	71515994	324	2535											
CDK6	0	.	GRCh38	chr7	92774788	92774788	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaacactaaagttagttTggtttctctgtctgttcgtg	8	18	8	7	1	3	0	1	0	2	0	5	0	3	0	0	1	1	4	0	1	4	6	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.277A>C	p.Lys93Gln	p.K93Q	ENST00000265734	3/8	250	221	29	214	214	0	strelka-varscan-mutect	CDK6,missense_variant,p.Lys93Gln,ENST00000265734,NM_001259.6;CDK6,missense_variant,p.Lys93Gln,ENST00000424848,NM_001145306.1;	G	ENST00000265734	Transcript	missense_variant	689/11612	277/981	93/326	K/Q	Aaa/Caa		1		-1	CDK6	HGNC	HGNC:1777	protein_coding	YES	CCDS5628.1	ENSP00000265734	Q00534		UPI00001108FA	NM_001259.6	tolerated(0.41)		3/8		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF130,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	92774788	92774788	T	G	1	0	0	0	0	1	0	0	0	2852	1821	63	5		5	CDK6	7	92774788	Missense_Mutation	SNP	T	C3L-00080_TP	4944809	92774788	66571185	325	2536											
GNG11	0	.	GRCh38	chr7	93926205	93926205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaagaaaaaggcagctgtGttatttcataaataacttgg	16	13	8	4	0	1	1	1	0	0	1	1	1	1	1	0	2	2	3	0	2	8	6	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.211G>T	p.Val71Phe	p.V71F	ENST00000248564	2/2	40	20	20	49	49	0	strelka-varscan-mutect	GNG11,missense_variant,p.Val71Phe,ENST00000248564,NM_004126.3;	T	ENST00000248564	Transcript	missense_variant	650/3055	211/222	71/73	V/F	Gtt/Ttt		1		1	GNG11	HGNC	HGNC:4403	protein_coding	YES	CCDS5634.1	ENSP00000248564	P61952	Q53Y01	UPI0000001AD4	NM_004126.3	deleterious(0.03)		2/2		PROSITE_profiles:PS50058,hmmpanther:PTHR13809:SF1,hmmpanther:PTHR13809,Gene3D:4.10.260.10,Pfam_domain:PF00631,SMART_domains:SM01224,SMART_domains:SM00224																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	93926205	93926205	G	T	1	0	0	0	0	1	0	0	0	6403	1377	48	2		2	GNG11	7	93926205	Missense_Mutation	SNP	G	C3L-00080_TP	1151417	93926205	65419768	326	2537											
TRRAP	0	.	GRCh38	chr7	98984134	98984134	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctctcagcatgatcccAgttcaaataacgctatgctt	12	12	6	11	1	2	1	2	1	1	0	4	1	3	1	1	0	4	5	1	0	4	5			C3L-00080_TP	C3L-00080_NB	A	A																c.9076A>T	p.Ser3026Cys	p.S3026C	ENST00000359863	60/72	73	61	12	40	40	0	strelka-varscan-mutect	TRRAP,missense_variant,p.Ser3026Cys,ENST00000359863,NM_001244580.1;TRRAP,missense_variant,p.Ser2997Cys,ENST00000628380,;TRRAP,missense_variant,p.Ser2997Cys,ENST00000355540,NM_003496.3;TRRAP,missense_variant,p.Ser2997Cys,ENST00000446306,;TRRAP,missense_variant,p.Ser2737Cys,ENST00000456197,;	T	ENST00000359863	Transcript	missense_variant	9285/12677	9076/11580	3026/3859	S/C	Agt/Tgt	COSM1187374,COSM1187375	1		1	TRRAP	HGNC	HGNC:12347	protein_coding	YES	CCDS59066.1	ENSP00000352925	Q9Y4A5		UPI00004575B4	NM_001244580.1	deleterious(0.02)		60/72		Pfam_domain:PF02259,PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	7	98984134	98984134	A	T	1	0	0	0	0	1	0	0	0	17107	188	7	4		4	TRRAP	7	98984134	Missense_Mutation	SNP	A	C3L-00080_TP	5057929	98984134	60361839	327	2538											
ZAN	0	.	GRCh38	chr7	100750784	100750784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tatgctcgaactcctcctggGaagtcctgcggggagtcccc	6	9	12	14	2	0	0	0	0	0	0	5	3	4	2	5	3	3	1	5	3	3	1	rs758826727		C3L-00080_TP	C3L-00080_NB	G	G																c.1409G>C	p.Gly470Ala	p.G470A	ENST00000613979	12/48	131	72	59	106	106	0	varscan-mutect	ZAN,missense_variant,p.Gly470Ala,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Gly470Ala,ENST00000618565,;ZAN,missense_variant,p.Gly470Ala,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Gly470Ala,ENST00000546292,;ZAN,missense_variant,p.Gly470Ala,ENST00000542585,;ZAN,missense_variant,p.Gly470Ala,ENST00000538115,;ZAN,missense_variant,p.Gly470Ala,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,;	C	ENST00000613979	Transcript	missense_variant	1574/8669	1409/8439	470/2812	G/A	gGa/gCa	rs758826727,COSM3630912	1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.2	tolerated(0.45)		12/48		Pfam_domain:PF00629,PROSITE_profiles:PS50060,Low_complexity_(Seg):seg,SMART_domains:SM00137,Superfamily_domains:SSF49899											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs758826727	.												C	3	2	7	100750784	100750784	G	C	1	0	0	0	0	1	0	0	0	18074	1174	41	4		4	ZAN	7	100750784	Missense_Mutation	SNP	G	C3L-00080_TP	1766650	100750784	58595189	328	2539											
ZAN	0	.	GRCh38	chr7	100764127	100764127	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgtgcacacacatgTccaccatgaccaccacctgc	10	7	6	18	0	0	1	0	1	0	0	1	1	1	1	6	0	3	2	6	0	0	0	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.4198T>A	p.Ser1400Thr	p.S1400T	ENST00000613979	22/48	142	120	22	119	119	0	strelka-varscan-mutect	ZAN,missense_variant,p.Ser1400Thr,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Ser1400Thr,ENST00000618565,;ZAN,missense_variant,p.Ser1400Thr,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Ser1400Thr,ENST00000546292,;ZAN,missense_variant,p.Ser1400Thr,ENST00000542585,;ZAN,missense_variant,p.Ser1400Thr,ENST00000538115,;ZAN,missense_variant,p.Ser1400Thr,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,;	A	ENST00000613979	Transcript	missense_variant	4363/8669	4198/8439	1400/2812	S/T	Tcc/Acc		1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.2	deleterious(0.02)		22/48		Pfam_domain:PF08742,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF221,SMART_domains:SM00832																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	100764127	100764127	T	A	1	0	0	0	0	1	0	0	0	18074	1667	58	4		4	ZAN	7	100764127	Missense_Mutation	SNP	T	C3L-00080_TP	13343	100764127	58581846	329	2540											
SLC12A9	0	.	GRCh38	chr7	100859969	100859969	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcggaatctatgccacagcGctctcagcgtccatgagctc	9	9	9	14	3	2	1	1	1	2	0	6	2	3	2	2	1	4	2	2	1	2	1	rs140502011		C3L-00080_TP	C3L-00080_NB	G	G																c.1062G>A	p.=	p.A354A	ENST00000354161	8/14	254	143	111	191	191	0	strelka-varscan-mutect	SLC12A9,synonymous_variant,p.=,ENST00000354161,NM_020246.3;SLC12A9,synonymous_variant,p.=,ENST00000540482,NM_001267812.1;SLC12A9,synonymous_variant,p.=,ENST00000415287,NM_001267814.1;SLC12A9,synonymous_variant,p.=,ENST00000418037,;SLC12A9,synonymous_variant,p.=,ENST00000416675,;SLC12A9,downstream_gene_variant,,ENST00000434158,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000475623,;SLC12A9,upstream_gene_variant,,ENST00000482184,;SLC12A9,downstream_gene_variant,,ENST00000461016,;SLC12A9,3_prime_UTR_variant,,ENST00000448342,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000487651,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000467972,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000475687,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000497958,;SLC12A9,downstream_gene_variant,,ENST00000462106,;	A	ENST00000354161	Transcript	synonymous_variant	1187/3273	1062/2745	354/914	A	gcG/gcA	rs140502011,COSM3698053,COSM3698054	1		1	SLC12A9	HGNC	HGNC:17435	protein_coding	YES	CCDS5707.1	ENSP00000275730	Q9BXP2		UPI000006CD28	NM_020246.3			8/14		Transmembrane_helices:TMhelix,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF52,Pfam_domain:PF00324											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs140502011	.												A	2	1	7	100859969	100859969	G	A	1	0	0	0	0	0	0	0	1	14655	1074	38	1		1	SLC12A9	7	100859969	Silent	SNP	G	C3L-00080_TP	95842	100859969	58486004	330	2541											
MUC3A	0	.	GRCh38	chr7	100957502	100957502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagtactcctagcttcaCttcttcaatcgcaaccaccg	11	10	4	16	2	3	0	2	0	1	0	5	0	4	0	3	0	3	3	3	0	4	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.5723C>T	p.Thr1908Ile	p.T1908I	ENST00000379458	2/12	76	66	10	36	36	0	varscan-mutect	MUC3A,missense_variant,p.Thr1908Ile,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Thr1908Ile,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,;	T	ENST00000379458	Transcript	missense_variant	5793/11226	5723/9972	1908/3323	T/I	aCt/aTt		1		1	MUC3A	HGNC	HGNC:7513	protein_coding	YES	CCDS78262.1	ENSP00000368771	Q02505		UPI000455B941	NM_005960.1	deleterious_low_confidence(0)		2/12																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	7	100957502	100957502	C	T	1	0	0	0	0	1	0	0	0	9976	565	20	3		3	MUC3A	7	100957502	Missense_Mutation	SNP	C	C3L-00080_TP	97533	100957502	58388471	331	2542											
MUC17	0	.	GRCh38	chr7	101053406	101053406	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggaccagctcctgggaccTtccaaaacattggctttgac	9	10	10	12	0	0	1	0	1	0	0	2	3	2	3	4	3	2	2	4	3	2	3	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.13333T>A	p.Phe4445Ile	p.F4445I	ENST00000306151	11/13	290	249	41	223	223	0	strelka-varscan-mutect	MUC17,missense_variant,p.Phe4445Ile,ENST00000306151,NM_001040105.1;RN7SKP54,upstream_gene_variant,,ENST00000410704,;MUC17,3_prime_UTR_variant,,ENST00000379439,;MUC17,non_coding_transcript_exon_variant,,ENST00000497859,;	A	ENST00000306151	Transcript	missense_variant	13397/14247	13333/13482	4445/4493	F/I	Ttc/Atc		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	deleterious(0)		11/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	101053406	101053406	T	A	1	0	0	0	0	1	0	0	0	9973	1609	56	4		4	MUC17	7	101053406	Missense_Mutation	SNP	T	C3L-00080_TP	95904	101053406	58292567	332	2543											
LRWD1	0	.	GRCh38	chr7	102466254	102466254	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtggagaacctgaatcGggagctgaccagcagggtaa	12	6	15	8	1	1	3	1	2	0	1	2	5	1	4	2	4	3	3	2	4	3	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.416G>C	p.Arg139Pro	p.R139P	ENST00000292616	3/15	121	69	52	94	94	0	strelka-varscan-mutect	LRWD1,missense_variant,p.Arg139Pro,ENST00000292616,NM_001317721.1,NM_152892.1;LRWD1,5_prime_UTR_variant,,ENST00000463739,;ALKBH4,upstream_gene_variant,,ENST00000292566,NM_017621.3;LRWD1,upstream_gene_variant,,ENST00000468175,;LRWD1,downstream_gene_variant,,ENST00000626402,;LRWD1,downstream_gene_variant,,ENST00000582533,;LRWD1,missense_variant,p.Arg116Pro,ENST00000485808,;LRWD1,3_prime_UTR_variant,,ENST00000476270,;LRWD1,3_prime_UTR_variant,,ENST00000464107,;LRWD1,non_coding_transcript_exon_variant,,ENST00000473880,;ALKBH4,upstream_gene_variant,,ENST00000490528,;LRWD1,upstream_gene_variant,,ENST00000485417,;ALKBH4,upstream_gene_variant,,ENST00000498283,;	C	ENST00000292616	Transcript	missense_variant	568/2215	416/1944	139/647	R/P	cGg/cCg		1		1	LRWD1	HGNC	HGNC:21769	protein_coding	YES	CCDS34715.1	ENSP00000292616	Q9UFC0	A0A140VJD0	UPI0000071D2E	NM_001317721.1,NM_152892.1	deleterious(0.03)		3/15		hmmpanther:PTHR24370:SF10,hmmpanther:PTHR24370																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	102466254	102466254	G	C	1	0	0	0	0	1	0	0	0	8953	1116	39	4		4	LRWD1	7	102466254	Missense_Mutation	SNP	G	C3L-00080_TP	1412848	102466254	56879719	333	2544											
RELN	0	.	GRCh38	chr7	103566722	103566722	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactctcgaagcaaatgccaGagtatcccattgtcatttga	13	11	7	10	1	2	2	1	1	1	1	4	3	3	2	2	0	3	2	2	0	4	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.4626C>G	p.=	p.L1542L	ENST00000428762	32/65	292	194	98	276	276	0	strelka-varscan-mutect	RELN,synonymous_variant,p.=,ENST00000424685,;RELN,synonymous_variant,p.=,ENST00000428762,NM_005045.3;RELN,synonymous_variant,p.=,ENST00000343529,NM_173054.2;	C	ENST00000428762	Transcript	synonymous_variant	4786/11571	4626/10383	1542/3460	L	ctC/ctG		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3			32/65		hmmpanther:PTHR11841																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	7	103566722	103566722	G	C	1	0	0	0	0	0	0	0	1	13390	929	33	4		4	RELN	7	103566722	Silent	SNP	G	C3L-00080_TP	1100468	103566722	55779251	334	2545											
LAMB4	0	.	GRCh38	chr7	108055671	108055671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttgacttttaagaatttcCcagatgggaaaacaggatgt	13	12	9	7	0	0	3	0	1	0	2	1	5	1	5	2	2	1	0	2	2	4	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.3716G>A	p.Gly1239Glu	p.G1239E	ENST00000388781	25/34	118	93	25	130	130	0	strelka-varscan-mutect	LAMB4,missense_variant,p.Gly1239Glu,ENST00000388781,NM_007356.2;LAMB4,missense_variant,p.Gly1239Glu,ENST00000205386,NM_001318046.1;LAMB4,missense_variant,p.Gly265Glu,ENST00000422975,;	T	ENST00000388781	Transcript	missense_variant	3800/5858	3716/5286	1239/1761	G/E	gGg/gAg		1		-1	LAMB4	HGNC	HGNC:6491	protein_coding	YES	CCDS34732.1	ENSP00000373433	A4D0S4		UPI0000198CD5	NM_007356.2	tolerated(1)		25/34		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF279																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	108055671	108055671	C	T	1	0	0	0	0	1	0	0	0	8517	623	22	3		3	LAMB4	7	108055671	Missense_Mutation	SNP	C	C3L-00080_TP	4488949	108055671	51290302	335	2546											
ASZ1	0	.	GRCh38	chr7	117427366	117427366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgctacctgagacgtcCggtcgagatacccaatctcc	8	8	8	17	4	1	2	0	1	1	2	5	4	3	2	6	1	2	1	6	1	3	2	rs145791114		C3L-00080_TP	C3L-00080_NB	C	C																c.95G>T	p.Arg32Leu	p.R32L	ENST00000284629	1/13	199	161	38	180	180	0	strelka-varscan-mutect	ASZ1,missense_variant,p.Arg32Leu,ENST00000284629,NM_001301822.1,NM_001301821.1,NM_130768.2;ASZ1,intron_variant,,ENST00000428663,;ASZ1,missense_variant,p.Arg32Leu,ENST00000450714,;ASZ1,non_coding_transcript_exon_variant,,ENST00000463182,;ASZ1,non_coding_transcript_exon_variant,,ENST00000465832,;ASZ1,non_coding_transcript_exon_variant,,ENST00000479454,;	A	ENST00000284629	Transcript	missense_variant	158/1865	95/1428	32/475	R/L	cGg/cTg	rs145791114	1		-1	ASZ1	HGNC	HGNC:1350	protein_coding	YES	CCDS5772.1	ENSP00000284629	Q8WWH4		UPI0000070EE2	NM_001301822.1,NM_001301821.1,NM_130768.2	tolerated(0.06)		1/13		hmmpanther:PTHR24157																	MODERATE	1	SNV	1			1										PASS		rs145791114	.												A	3	1	7	117427366	117427366	C	A	1	0	0	0	0	1	0	0	0	1217	652	23	1		1	ASZ1	7	117427366	Missense_Mutation	SNP	C	C3L-00080_TP	9371695	117427366	41918607	336	2547											
KCND2	0	.	GRCh38	chr7	120741600	120741600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcttacatgcagagcaaaCggaatggtttactcagtaat	14	11	9	7	1	1	1	1	0	0	1	1	2	1	2	0	2	6	5	0	2	5	4	rs561063026		C3L-00080_TP	C3L-00080_NB	C	C																c.1345C>T	p.Arg449Trp	p.R449W	ENST00000331113	3/6	439	370	69	386	386	0	strelka-varscan-mutect	KCND2,missense_variant,p.Arg449Trp,ENST00000331113,NM_012281.2;KCND2,missense_variant,p.Arg35Trp,ENST00000425288,;KCND2,upstream_gene_variant,,ENST00000473190,;	T	ENST00000331113	Transcript	missense_variant	2310/5331	1345/1893	449/630	R/W	Cgg/Tgg	rs561063026,COSM1737355	1		1	KCND2	HGNC	HGNC:6238	protein_coding	YES	CCDS5776.1	ENSP00000333496	Q9NZV8	A4D0V9	UPI0000073D37	NM_012281.2	deleterious(0)		3/6		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF159,Pfam_domain:PF11879											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs561063026	.												T	3	4	7	120741600	120741600	C	T	1	0	0	0	0	1	0	0	0	7935	527	19	1		1	KCND2	7	120741600	Missense_Mutation	SNP	C	C3L-00080_TP	3314234	120741600	38604373	337	2548											
HYAL4	0	.	GRCh38	chr7	123868729	123868729	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaatattggcgaccacaGtgggcccggaactggaactc	10	7	14	10	2	0	0	0	0	0	0	1	4	0	3	2	5	2	0	2	5	4	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.456G>A	p.=	p.Q152Q	ENST00000223026	3/5	173	142	31	133	133	0	strelka-varscan-mutect	HYAL4,synonymous_variant,p.=,ENST00000223026,NM_012269.2;HYAL4,synonymous_variant,p.=,ENST00000476325,;HYAL4,downstream_gene_variant,,ENST00000489978,;HYAL4,downstream_gene_variant,,ENST00000488323,;HYAL4,synonymous_variant,p.=,ENST00000483878,;	A	ENST00000223026	Transcript	synonymous_variant	1094/2407	456/1446	152/481	Q	caG/caA		1		1	HYAL4	HGNC	HGNC:5323	protein_coding	YES	CCDS5789.1	ENSP00000223026	Q2M3T9		UPI000006F62B	NM_012269.2			3/5		Gene3D:3.20.20.70,Pfam_domain:PF01630,PIRSF_domain:PIRSF038193,Prints_domain:PR00846,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF7,Superfamily_domains:SSF51445																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	123868729	123868729	G	A	1	0	0	0	0	0	0	0	1	7362	1020	36	3		3	HYAL4	7	123868729	Silent	SNP	G	C3L-00080_TP	3127129	123868729	35477244	338	2549											
SPAM1	0	.	GRCh38	chr7	123953729	123953729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcctttcctctgggcctgGaatgccccaagtgaattttg	6	13	11	11	0	1	1	0	1	1	0	2	2	2	2	5	2	2	0	5	2	3	3	rs554458086		C3L-00080_TP	C3L-00080_NB	G	G																c.159G>T	p.Trp53Cys	p.W53C	ENST00000340011	3/7	100	69	31	85	85	0	strelka-varscan-mutect	SPAM1,missense_variant,p.Trp53Cys,ENST00000340011,NM_003117.4;SPAM1,missense_variant,p.Trp53Cys,ENST00000439500,NM_001174046.1,NM_001174045.1;SPAM1,missense_variant,p.Trp53Cys,ENST00000460182,NM_001174044.1,NM_153189.2;SPAM1,missense_variant,p.Trp53Cys,ENST00000223028,;SPAM1,missense_variant,p.Trp53Cys,ENST00000402183,;SPAM1,missense_variant,p.Trp53Cys,ENST00000413927,;	T	ENST00000340011	Transcript	missense_variant	516/2349	159/1536	53/511	W/C	tgG/tgT	rs554458086,COSM4529270,COSM4529271	1		1	SPAM1	HGNC	HGNC:11217	protein_coding	YES	CCDS5790.1	ENSP00000345849	P38567		UPI0000072166	NM_003117.4	deleterious(0)		3/7		hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF20,PIRSF_domain:PIRSF500773,PIRSF_domain:PIRSF038193,Gene3D:3.20.20.70,Pfam_domain:PF01630,Superfamily_domains:SSF51445,Prints_domain:PR00846											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs554458086	.												T	3	4	7	123953729	123953729	G	T	1	0	0	0	0	1	0	0	0	15317	1183	41	2		2	SPAM1	7	123953729	Missense_Mutation	SNP	G	C3L-00080_TP	85000	123953729	35392244	339	2550											
FLNC	0	.	GRCh38	chr7	128856782	128856782	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcccccacgagaatggCgtccactccatcgatgtcaa	10	9	7	15	3	2	1	2	0	0	1	6	3	5	1	4	1	0	0	4	1	2	1	rs755019331		C3L-00080_TP	C3L-00080_NB	C	C																c.7422C>T	p.=	p.G2474G	ENST00000325888	45/48	530	419	111	475	475	0	strelka-varscan-mutect	FLNC,synonymous_variant,p.=,ENST00000325888,NM_001458.4;FLNC,synonymous_variant,p.=,ENST00000346177,NM_001127487.1;RP11-309L24.2,intron_variant,,ENST00000469965,;	T	ENST00000325888	Transcript	synonymous_variant	7683/9188	7422/8178	2474/2725	G	ggC/ggT	rs755019331,COSM3878002	1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4			45/48		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296											0,1						LOW	1	SNV	1		0,1	1										PASS		rs755019331	.												T	2	4	7	128856782	128856782	C	T	1	0	0	0	0	0	0	0	1	5791	755	27	1		1	FLNC	7	128856782	Silent	SNP	C	C3L-00080_TP	4903053	128856782	30489191	340	2551											
AHCYL2	0	.	GRCh38	chr7	129405152	129405152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccagccatgaatgtcaatGactcagtcaccaaacagaaa	16	8	6	11	0	3	3	3	2	0	1	4	3	4	3	3	0	2	0	3	0	4	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1081G>A	p.Asp361Asn	p.D361N	ENST00000325006	8/17	92	81	11	102	102	0	strelka-varscan-mutect	AHCYL2,missense_variant,p.Asp361Asn,ENST00000325006,NM_015328.3;AHCYL2,missense_variant,p.Asp360Asn,ENST00000446544,NM_001130720.2;AHCYL2,missense_variant,p.Asp258Asn,ENST00000474594,NM_001130723.2;AHCYL2,missense_variant,p.Asp258Asn,ENST00000490911,NM_001130722.2;AHCYL2,missense_variant,p.Asp268Asn,ENST00000466924,;AHCYL2,downstream_gene_variant,,ENST00000466993,;AHCYL2,non_coding_transcript_exon_variant,,ENST00000492628,;AHCYL2,downstream_gene_variant,,ENST00000491079,;RP11-305M3.2,downstream_gene_variant,,ENST00000450566,;	A	ENST00000325006	Transcript	missense_variant	1135/5056	1081/1836	361/611	D/N	Gac/Aac		1		1	AHCYL2	HGNC	HGNC:22204	protein_coding	YES	CCDS5812.1	ENSP00000315931	Q96HN2		UPI00001354E4	NM_015328.3	deleterious(0.02)		8/17		hmmpanther:PTHR23420:SF2,hmmpanther:PTHR23420,TIGRFAM_domain:TIGR00936,Gene3D:3.40.50.1480,SMART_domains:SM00996,Superfamily_domains:SSF52283																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	129405152	129405152	G	A	1	0	0	0	0	1	0	0	0	488	1290	45	3		3	AHCYL2	7	129405152	Missense_Mutation	SNP	G	C3L-00080_TP	548370	129405152	29940821	341	2552											
STRA8	0	.	GRCh38	chr7	135246703	135246703	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtctccacgcccgaggagGtgagcaggcccaccggggtg	6	5	17	13	3	1	1	0	1	1	0	2	3	1	2	4	6	1	1	4	6	0	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.732+1G>T		p.X244_splice	ENST00000275764		95	79	16	74	74	0	strelka-varscan-mutect	STRA8,splice_donor_variant,,ENST00000275764,NM_182489.1;RP11-260N14.1,non_coding_transcript_exon_variant,,ENST00000637483,;	T	ENST00000275764	Transcript	splice_donor_variant	-/993	732/993	244/330				1		1	STRA8	HGNC	HGNC:30653	protein_coding	YES	CCDS5839.1	ENSP00000275764	Q7Z7C7		UPI00001A36D9	NM_182489.1				6/8																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	7	135246703	135246703	G	T	1	0	0	0	0	0	0	1	0	15704	1275	44	2		2	STRA8	7	135246703	Splice_Site	SNP	G	C3L-00080_TP	5841551	135246703	24099270	342	2553											
SVOPL	0	.	GRCh38	chr7	138678975	138678975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatctcacctttaacctgtGgctctgcggtccccaggctc	6	12	8	15	1	2	0	1	0	2	0	5	0	3	0	4	3	2	2	4	3	2	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.71C>A	p.Pro24Gln	p.P24Q	ENST00000419765	1/15	198	165	33	168	168	0	strelka-varscan-mutect	SVOPL,missense_variant,p.Pro24Gln,ENST00000421622,;SVOPL,missense_variant,p.Pro24Gln,ENST00000419765,NM_001139456.1;	T	ENST00000419765	Transcript	missense_variant	105/1523	71/1479	24/492	P/Q	cCa/cAa		1		-1	SVOPL	HGNC	HGNC:27034	protein_coding	YES	CCDS47721.1	ENSP00000405482	Q8N434		UPI0001565476	NM_001139456.1	deleterious(0.04)		1/15		hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF168																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	7	138678975	138678975	G	T	1	0	0	0	0	1	0	0	0	15809	1348	47	2		2	SVOPL	7	138678975	Missense_Mutation	SNP	G	C3L-00080_TP	3432272	138678975	20666998	343	2554											
KIAA1549	0	.	GRCh38	chr7	138903591	138903593	+	In_Frame_Del	DEL	CAC	CAC	-																															cctttgatgtggagtacctgCaccacactgttccctgcagc																								novel		C3L-00080_TP	C3L-00080_NB	CAC	CAC																c.3664_3666delGTG	p.Val1222del	p.V1222del	ENST00000422774	8/20	86	75	11	89	89	0	sindel-varindel-pindel	KIAA1549,inframe_deletion,p.Val1222del,ENST00000440172,NM_020910.2;KIAA1549,inframe_deletion,p.Val1222del,ENST00000422774,NM_001164665.1;	-	ENST00000422774	Transcript	inframe_deletion	3713-3715/6283	3664-3666/5853	1222/1950	V/-	GTG/-		1		-1	KIAA1549	HGNC	HGNC:22219	protein_coding	YES	CCDS56513.1	ENSP00000416040	Q9HCM3		UPI0001837EBD	NM_001164665.1			8/20		hmmpanther:PTHR21590:SF4,hmmpanther:PTHR21590,Pfam_domain:PF12877																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	7	138903591	138903591	CAC	-	1	0	1	0	1	0	0	0	0	8120	724	25	0		0	KIAA1549	7	138903591	In_Frame_Del	DEL	CAC	C3L-00080_TP	224616	138903591	20442382	344	2555											
HIPK2	0	.	GRCh38	chr7	139716114	139716114	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcagggctgtggctacCtgctggagaactgggcgaat	8	10	14	9	1	2	1	2	0	0	1	2	3	2	1	1	4	3	3	1	4	3	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.921G>A	p.=	p.Q307Q	ENST00000406875	2/15	242	196	46	235	235	0	strelka-varscan-mutect	HIPK2,synonymous_variant,p.=,ENST00000406875,NM_022740.4;HIPK2,synonymous_variant,p.=,ENST00000428878,NM_001113239.2;HIPK2,synonymous_variant,p.=,ENST00000342645,;	T	ENST00000406875	Transcript	synonymous_variant	1016/15049	921/3597	307/1198	Q	caG/caA		1		-1	HIPK2	HGNC	HGNC:14402	protein_coding	YES	CCDS75667.1	ENSP00000385571	Q9H2X6		UPI000012C71E	NM_022740.4			2/15		PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF53,hmmpanther:PTHR24058,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	139716114	139716114	C	T	1	0	0	0	0	0	0	0	1	7005	680	24	3		3	HIPK2	7	139716114	Silent	SNP	C	C3L-00080_TP	812523	139716114	19629859	345	2556											
SSBP1	0	.	GRCh38	chr7	141743702	141743702	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagtgaagtttaccaactggGtgagtacaaaagactggggt	13	10	13	5	0	0	3	0	2	0	1	0	3	0	3	1	3	3	2	1	3	7	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.226+1G>T		p.X76_splice	ENST00000481508		68	52	16	95	95	0	varscan-mutect	SSBP1,splice_donor_variant,,ENST00000481508,NM_001256510.1;SSBP1,splice_donor_variant,,ENST00000612337,NM_001256513.1,NM_001256512.1,NM_001256511.1;SSBP1,splice_donor_variant,,ENST00000465582,;SSBP1,splice_donor_variant,,ENST00000265304,NM_003143.2;SSBP1,splice_donor_variant,,ENST00000484178,;SSBP1,splice_donor_variant,,ENST00000498107,;SSBP1,splice_donor_variant,,ENST00000467681,;SSBP1,splice_donor_variant,,ENST00000463093,;SSBP1,downstream_gene_variant,,ENST00000473783,;SSBP1,splice_donor_variant,,ENST00000469123,;SSBP1,splice_donor_variant,,ENST00000465167,;SSBP1,splice_donor_variant,,ENST00000489378,;SSBP1,downstream_gene_variant,,ENST00000496622,;SSBP1,downstream_gene_variant,,ENST00000461433,;SSBP1,downstream_gene_variant,,ENST00000468267,;	T	ENST00000481508	Transcript	splice_donor_variant	-/989	226/447	76/148				1		1	SSBP1	HGNC	HGNC:11317	protein_coding	YES	CCDS5866.1	ENSP00000419665	Q04837	A4D1U3	UPI0000135FAA	NM_001256510.1				4/6																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	7	141743702	141743702	G	T	1	0	0	0	0	0	0	1	0	15553	1275	44	2		2	SSBP1	7	141743702	Splice_Site	SNP	G	C3L-00080_TP	2027588	141743702	17602271	346	2557											
TCAF2	0	.	GRCh38	chr7	143703136	143703136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgaatgacaagggccagGtgctcattgctgcctcctcc	7	10	12	12	0	1	2	1	2	0	0	3	2	3	2	4	3	3	2	4	3	2	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.142G>T	p.Val48Leu	p.V48L	ENST00000444908	2/7	176	158	18	187	187	0	varscan-mutect	TCAF2,missense_variant,p.Val48Leu,ENST00000441159,;TCAF2,missense_variant,p.Val48Leu,ENST00000444908,NM_001130025.1;TCAF2,missense_variant,p.Val48Leu,ENST00000357344,NM_173678.2;RP11-298A10.1,intron_variant,,ENST00000636919,;RP11-298A10.1,intron_variant,,ENST00000636123,;TCAF2,intron_variant,,ENST00000518791,;	T	ENST00000444908	Transcript	missense_variant	227/2976	142/2538	48/845	V/L	Gtg/Ttg		1		1	TCAF2	HGNC	HGNC:26878	protein_coding	YES	CCDS34769.1	ENSP00000412724	A6NFQ2		UPI00001AF3A8	NM_001130025.1	deleterious(0)		2/7		hmmpanther:PTHR15730,hmmpanther:PTHR15730:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	143703136	143703136	G	T	1	0	0	0	0	1	0	0	0	16071	1261	44	2		2	TCAF2	7	143703136	Missense_Mutation	SNP	G	C3L-00080_TP	1959434	143703136	15642837	347	2558											
OR2A12	0	.	GRCh38	chr7	144095732	144095732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgttcatcttagtggggCcgctctgcctggtgctggtc	2	13	14	12	2	3	0	1	0	2	0	4	0	3	0	2	4	3	3	2	4	1	2	rs769270259		C3L-00080_TP	C3L-00080_NB	C	C																c.625C>T	p.Pro209Ser	p.P209S	ENST00000408949	1/1	456	388	68	467	467	0	strelka-varscan-mutect	OR2A12,missense_variant,p.Pro209Ser,ENST00000408949,NM_001004135.1;	T	ENST00000408949	Transcript	missense_variant	685/1046	625/933	209/310	P/S	Ccg/Tcg	rs769270259	1		1	OR2A12	HGNC	HGNC:15082	protein_coding	YES	CCDS43670.1	ENSP00000386174	Q8NGT7	A4D2G4	UPI0000061E6F	NM_001004135.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF50,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs769270259	.												T	3	4	7	144095732	144095732	C	T	1	0	0	0	0	1	0	0	0	11052	739	26	3		3	OR2A12	7	144095732	Missense_Mutation	SNP	C	C3L-00080_TP	392596	144095732	15250241	348	2559											
CNTNAP2	0	.	GRCh38	chr7	148217410	148217410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accagcagaactcccacccgGacctggcacaggaggagatc	12	3	11	15	1	0	2	0	0	0	2	2	5	1	4	4	4	2	2	4	4	1	0			C3L-00080_TP	C3L-00080_NB	G	G																c.3133G>T	p.Asp1045Tyr	p.D1045Y	ENST00000361727	19/24	362	217	145	308	307	1	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Asp1045Tyr,ENST00000361727,NM_014141.5;CNTNAP2,missense_variant,p.Asp104Tyr,ENST00000628930,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637020,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000627772,;	T	ENST00000361727	Transcript	missense_variant	3651/9896	3133/3996	1045/1331	D/Y	Gac/Tac	COSM1248652	1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	deleterious(0.01)		19/24		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644,Superfamily_domains:SSF49899											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	7	148217410	148217410	G	T	1	0	0	0	0	1	0	0	0	3428	1174	41	2		2	CNTNAP2	7	148217410	Missense_Mutation	SNP	G	C3L-00080_TP	4121678	148217410	11128563	349	2560											
C7orf33	0	.	GRCh38	chr7	148615361	148615361	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtaagaaagctccagaattCtgttgaggccacaaggattt	14	10	10	7	0	1	3	0	1	1	2	2	4	2	4	2	2	1	3	2	2	4	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.494C>G	p.Ser165Cys	p.S165C	ENST00000307003	3/3	202	113	89	201	201	0	strelka-varscan-mutect	C7orf33,missense_variant,p.Ser165Cys,ENST00000307003,NM_145304.3;	G	ENST00000307003	Transcript	missense_variant	855/1354	494/534	165/177	S/C	tCt/tGt		1		1	C7orf33	HGNC	HGNC:21724	protein_coding	YES	CCDS5890.1	ENSP00000304071	Q8WU49	A0A090N8Y1	UPI00000707BF	NM_145304.3	deleterious_low_confidence(0)		3/3																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	148615361	148615361	C	G	1	0	0	0	0	1	0	0	0	2138	913	32	4		4	C7orf33	7	148615361	Missense_Mutation	SNP	C	C3L-00080_TP	397951	148615361	10730612	350	2561											
GALNT11	0	.	GRCh38	chr7	152100818	152100818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgatttttaatgaacgcGatcaagagttgagagacttg	13	13	11	4	2	1	5	1	3	0	2	1	7	1	5	0	0	1	2	0	0	4	6	rs149600575		C3L-00080_TP	C3L-00080_NB	G	G																c.316G>T	p.Asp106Tyr	p.D106Y	ENST00000434507	5/14	133	75	58	137	136	1	strelka-varscan-mutect	GALNT11,missense_variant,p.Asp106Tyr,ENST00000434507,;GALNT11,missense_variant,p.Asp106Tyr,ENST00000430044,NM_001304514.1,NM_022087.3;GALNT11,missense_variant,p.Asp106Tyr,ENST00000415421,;GALNT11,missense_variant,p.Asp106Tyr,ENST00000422997,;GALNT11,missense_variant,p.Asp106Tyr,ENST00000447796,;GALNT11,missense_variant,p.Asp106Tyr,ENST00000419245,;GALNT11,splice_region_variant,,ENST00000423337,;GALNT11,intron_variant,,ENST00000446096,;GALNT11,intron_variant,,ENST00000482812,;GALNT11,intron_variant,,ENST00000447778,;	T	ENST00000434507	Transcript	missense_variant	753/2747	316/1827	106/608	D/Y	Gat/Tat	rs149600575	1		1	GALNT11	HGNC	HGNC:19875	protein_coding	YES	CCDS5930.1	ENSP00000416787	Q8NCW6	A0A090N7X6	UPI000004C2AA		deleterious(0)		5/14		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF10																	MODERATE	1	SNV	2			1										PASS		rs149600575	.												T	3	4	7	152100818	152100818	G	T	1	0	0	0	0	1	0	0	0	6077	1058	37	1		1	GALNT11	7	152100818	Missense_Mutation	SNP	G	C3L-00080_TP	3485457	152100818	7245155	351	2562											
KMT2C	0	.	GRCh38	chr7	152273716	152273716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaacttacatctttcaggaGcttggtcaatgtgttctgga	10	15	9	7	0	4	0	2	0	2	0	4	2	4	2	0	3	3	2	0	3	4	5	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1001C>A	p.Ala334Asp	p.A334D	ENST00000262189	7/59	322	302	20	369	369	0	varscan-mutect	KMT2C,missense_variant,p.Ala334Asp,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Ala334Asp,ENST00000355193,;KMT2C,missense_variant,p.Ala334Asp,ENST00000558084,;	T	ENST00000262189	Transcript	missense_variant	1220/16862	1001/14736	334/4911	A/D	gCt/gAt		1		-1	KMT2C	HGNC	HGNC:13726	protein_coding	YES	CCDS5931.1	ENSP00000262189	Q8NEZ4		UPI0000141B9F	NM_170606.2	deleterious(0)		7/59		Gene3D:3.30.40.10																	MODERATE	1	SNV	1			1										PASS		rs1189358773	.												T	3	4	7	152273716	152273716	G	T	1	0	0	0	0	1	0	0	0	8297	971	34	2		2	KMT2C	7	152273716	Missense_Mutation	SNP	G	C3L-00080_TP	172898	152273716	7072257	352	2563											
DPP6	0	.	GRCh38	chr7	154889505	154889505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcattacacaactaattaGgggaaaggctaattacagct	16	10	7	8	0	1	0	1	0	0	0	1	1	1	1	0	3	4	2	0	3	7	5			C3L-00080_TP	C3L-00080_NB	G	G																c.2426G>T	p.Arg809Met	p.R809M	ENST00000377770	25/26	89	57	32	111	111	0	strelka-varscan-mutect	DPP6,missense_variant,p.Arg745Met,ENST00000404039,NM_001039350.2;DPP6,missense_variant,p.Arg747Met,ENST00000332007,NM_001936.4;DPP6,missense_variant,p.Arg809Met,ENST00000377770,NM_130797.3;DPP6,missense_variant,p.Arg702Met,ENST00000427557,NM_001290252.1;DPP6,non_coding_transcript_exon_variant,,ENST00000480367,;	T	ENST00000377770	Transcript	missense_variant	2567/3710	2426/2598	809/865	R/M	aGg/aTg	COSM3950250,COSM3950251,COSM3950252	1		1	DPP6	HGNC	HGNC:3010	protein_coding	YES	CCDS75683.1	ENSP00000367001	P42658		UPI00001AE746	NM_130797.3	deleterious(0.04)		25/26		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20,Gene3D:3.40.50.1820,Pfam_domain:PF00326,Superfamily_domains:SSF53474											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	7	154889505	154889505	G	T	1	0	0	0	0	1	0	0	0	4545	1000	35	2		2	DPP6	7	154889505	Missense_Mutation	SNP	G	C3L-00080_TP	2615789	154889505	4456468	353	2564											
FBXO25	0	.	GRCh38	chr8	449994	449994	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctttcctttaagctgtTgcagctaattgcaaaatccc	9	14	6	12	1	1	0	0	0	1	0	3	0	3	0	3	0	4	5	3	0	4	6	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.386T>C	p.Leu129Ser	p.L129S	ENST00000382824	6/11	70	41	29	70	70	0	strelka-varscan-mutect	FBXO25,missense_variant,p.Leu129Ser,ENST00000382824,NM_183421.1;FBXO25,missense_variant,p.Leu62Ser,ENST00000352684,NM_012173.3;FBXO25,missense_variant,p.Leu129Ser,ENST00000350302,NM_183420.1;FBXO25,missense_variant,p.Leu62Ser,ENST00000276326,;RP11-91J19.3,downstream_gene_variant,,ENST00000607549,;FBXO25,non_coding_transcript_exon_variant,,ENST00000524125,;FBXO25,non_coding_transcript_exon_variant,,ENST00000524015,;	C	ENST00000382824	Transcript	missense_variant	505/10386	386/1104	129/367	L/S	tTg/tCg		1		1	FBXO25	HGNC	HGNC:13596	protein_coding	YES	CCDS5953.1	ENSP00000372274	Q8TCJ0		UPI00001CE3B4	NM_183421.1	deleterious(0)		6/11		hmmpanther:PTHR13123,hmmpanther:PTHR13123:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	449994	449994	T	C	1	0	0	0	0	1	0	0	0	5599	1826	63	5		5	FBXO25	8	449994	Missense_Mutation	SNP	T	C3L-00080_TP		449994	144688642	354	2565											
CSMD1	0	.	GRCh38	chr8	2966712	2966712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactactgacaatcattccGttggtgggtgtgccagggtt	7	13	12	9	1	2	1	2	1	0	0	3	1	3	1	2	3	2	2	2	3	2	4	rs373386526		C3L-00080_TP	C3L-00080_NB	G	G																c.8961C>A	p.Asn2987Lys	p.N2987K	ENST00000520002	59/71	143	78	65	146	146	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Asn2848Lys,ENST00000537824,;CSMD1,missense_variant,p.Asn2404Lys,ENST00000335551,;CSMD1,missense_variant,p.Asn2987Lys,ENST00000520002,;CSMD1,missense_variant,p.Asn2987Lys,ENST00000602557,;CSMD1,missense_variant,p.Asn2986Lys,ENST00000635120,NM_033225.5;CSMD1,intron_variant,,ENST00000400186,;CSMD1,intron_variant,,ENST00000602723,;	T	ENST00000520002	Transcript	missense_variant	9517/11740	8961/10698	2987/3565	N/K	aaC/aaA	rs373386526	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0.05)		59/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		rs373386526	.												T	3	4	7	2966712	2966712	G	T	1	0	0	0	0	1	0	0	0	3745	1136	40	1		1	CSMD1	8	2966712	Missense_Mutation	SNP	G	C3L-00080_TP	2516718	2966712	142171924	355	2566											
CSMD1	0	.	GRCh38	chr8	3998014	3998014	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctcagccagaatggtcCaggtgcagtccgcgttgttc	6	9	14	12	3	1	1	1	0	0	1	4	1	3	1	3	3	2	4	3	3	1	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.707G>C	p.Trp236Ser	p.W236S	ENST00000520002	5/71	180	105	75	215	215	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Trp98Ser,ENST00000537824,;CSMD1,missense_variant,p.Trp236Ser,ENST00000520002,;CSMD1,missense_variant,p.Trp236Ser,ENST00000602557,;CSMD1,missense_variant,p.Trp236Ser,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Trp236Ser,ENST00000400186,;CSMD1,missense_variant,p.Trp236Ser,ENST00000602723,;	G	ENST00000520002	Transcript	missense_variant	1263/11740	707/10698	236/3565	W/S	tGg/tCg		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0)		5/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	7	3998014	3998014	C	G	1	0	0	0	0	1	0	0	0	3745	595	21	4		4	CSMD1	8	3998014	Missense_Mutation	SNP	C	C3L-00080_TP	1031302	3998014	141140622	356	2567											
USP17L4	0	.	GRCh38	chr8	7338247	7338247	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacatccagaagagtgaatGggaaagacacagtgagagtg	16	7	13	5	0	0	5	0	2	0	4	1	7	1	6	1	1	1	0	1	1	4	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1133G>A	p.Trp378Ter	p.W378*	ENST00000526929	1/1	255	242	13	317	317	0	varscan-mutect	USP17L4,stop_gained,p.Trp378Ter,ENST00000526929,NM_001256874.1;USP17L1,downstream_gene_variant,,ENST00000529559,NM_001256873.1;FAM66B,intron_variant,,ENST00000606573,;FAM66B,intron_variant,,ENST00000529456,;AC130360.8,upstream_gene_variant,,ENST00000425489,;	A	ENST00000526929	Transcript	stop_gained	1133/1593	1133/1593	378/530	W/*	tGg/tAg		1		1	USP17L4	HGNC	HGNC:37176	protein_coding	YES	CCDS78299.1	ENSP00000485243	A6NCW7		UPI0000251F84	NM_001256874.1			1/1		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF511,Superfamily_domains:SSF54001																	HIGH		SNV				1										PASS		.	.												A	4	1	7	7338247	7338247	G	A	1	0	0	0	0	0	1	0	0	17588	1357	47	3		3	USP17L4	8	7338247	Nonsense_Mutation	SNP	G	C3L-00080_TP	3340233	7338247	137800389	357	2568											
SGK223	0	.	GRCh38	chr8	8319035	8319035	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgctcgtacgcctcgggctCcgcctggtggctggccgccg	1	7	15	18	7	0	0	0	0	0	0	3	0	1	0	6	4	1	4	6	4	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.3340G>T	p.Glu1114Ter	p.E1114*	ENST00000615670	6/6	194	179	15	235	235	0	strelka-varscan-mutect	SGK223,stop_gained,p.Glu1114Ter,ENST00000615670,;SGK223,stop_gained,p.Glu1114Ter,ENST00000622241,NM_001080826.2;	A	ENST00000615670	Transcript	stop_gained	3605/4903	3340/4221	1114/1406	E/*	Gag/Tag		1		-1	SGK223	Clone_based_vega_gene		protein_coding	YES	CCDS43706.1	ENSP00000481109	Q86YV5		UPI0003EAF98F				6/6		PROSITE_profiles:PS50011,hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972,Gene3D:3.30.200.20,SMART_domains:SM00220																	HIGH	1	SNV	5			1										PASS		rs1188055557	.												A	4	1	7	8319035	8319035	C	A	1	0	0	0	0	0	1	0	0	14469	864	30	2		2	SGK223	8	8319035	Nonsense_Mutation	SNP	C	C3L-00080_TP	980788	8319035	136819601	358	2569											
GATA4	0	.	GRCh38	chr8	11708357	11708358	+	Frame_Shift_Ins	INS	-	-	G																															ccaaccacgggccgccccccINSggtgcctacgaggcgggcgg																								novel		C3L-00080_TP	C3L-00080_NB	-	-																c.47dupG	p.Ala17CysfsTer194	p.A17Cfs*194	ENST00000532059	1/6	273	156	117	277	277	0	sindel-varindel-pindel	GATA4,frameshift_variant,p.Ala17CysfsTer193,ENST00000335135,NM_002052.3;GATA4,frameshift_variant,p.Val16GlyfsTer193,ENST00000622443,;GATA4,frameshift_variant,p.Ala17CysfsTer194,ENST00000532059,NM_001308093.1;GATA4,frameshift_variant,p.Ala17CysfsTer?,ENST00000528027,;GATA4,frameshift_variant,p.Gly17GlyfsTer?,ENST00000532977,;GATA4,frameshift_variant,p.Ala17CysfsTer?,ENST00000526974,;GATA4,intron_variant,,ENST00000528712,NM_001308094.1;GATA4,intron_variant,,ENST00000526716,;	G	ENST00000532059	Transcript	frameshift_variant	125-126/1459	45-46/1332	15-16/443	-/X	-/G		1		1	GATA4	HGNC	HGNC:4173	protein_coding	YES	CCDS78303.1	ENSP00000435712	P43694		UPI0000210221	NM_001308093.1			1/6		Pfam_domain:PF05349,PIRSF_domain:PIRSF003028,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF154,Low_complexity_(Seg):seg																	HIGH	1	insertion	1	2		1										PASS		.	.												G	7	5	7	11708357	11708357	-	G	1	0	1	1	0	0	0	0	0	6126	652	23	0		0	GATA4	8	11708357	Frame_Shift_Ins	INS	-	C3L-00080_TP	3389322	11708357	133430279	359	2570											
LZTS1	0	.	GRCh38	chr8	20252891	20252891	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaggctctcgagctccTgccggagctgccgcttctcc	4	10	11	16	3	3	1	1	1	2	0	6	3	4	2	4	2	4	4	4	2	0	1	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.1040A>T	p.Gln347Leu	p.Q347L	ENST00000381569	3/4	64	35	29	70	70	0	strelka-varscan-mutect	LZTS1,missense_variant,p.Gln347Leu,ENST00000381569,;LZTS1,missense_variant,p.Gln347Leu,ENST00000265801,NM_021020.3;LZTS1,missense_variant,p.Gln347Leu,ENST00000522290,;LZTS1,intron_variant,,ENST00000616228,;	A	ENST00000381569	Transcript	missense_variant	1398/5706	1040/1791	347/596	Q/L	cAg/cTg		1		-1	LZTS1	HGNC	HGNC:13861	protein_coding	YES	CCDS6015.1	ENSP00000370981	Q9Y250		UPI000006DEE8		deleterious(0)		3/4		Low_complexity_(Seg):seg,hmmpanther:PTHR19354:SF5,hmmpanther:PTHR19354,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	5			1										PASS		rs1393232019	.												A	3	1	7	20252891	20252891	T	A	1	0	0	0	0	1	0	0	0	9051	1580	55	4		4	LZTS1	8	20252891	Missense_Mutation	SNP	T	C3L-00080_TP	8544534	20252891	124885745	360	2571											
DPYSL2	0	.	GRCh38	chr8	26581978	26581978	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgtttcagagcgatcgtCttctgatcaaaggaggtaaa	11	13	10	7	2	4	2	2	1	2	1	5	4	4	3	0	2	1	2	0	2	3	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.49C>G	p.Leu17Val	p.L17V	ENST00000311151	2/14	95	61	34	118	118	0	strelka-varscan-mutect	DPYSL2,missense_variant,p.Leu122Val,ENST00000521913,NM_001197293.2;DPYSL2,missense_variant,p.Leu17Val,ENST00000311151,NM_001386.5;DPYSL2,missense_variant,p.Leu89Val,ENST00000493789,;DPYSL2,5_prime_UTR_variant,,ENST00000523027,NM_001244604.1;	G	ENST00000311151	Transcript	missense_variant	461/4603	49/1719	17/572	L/V	Ctt/Gtt		1		1	DPYSL2	HGNC	HGNC:3014	protein_coding	YES	CCDS6051.1	ENSP00000309539	Q16555		UPI0000129864	NM_001386.5	tolerated(0.14)		2/14		Gene3D:2.30.40.10,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF56,Superfamily_domains:SSF51338,TIGRFAM_domain:TIGR02033																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	26581978	26581978	C	G	1	0	0	0	0	1	0	0	0	4562	913	32	4		4	DPYSL2	8	26581978	Missense_Mutation	SNP	C	C3L-00080_TP	6329087	26581978	118556658	361	2572											
FGFR1	0	.	GRCh38	chr8	38423025	38423026	+	Frame_Shift_Ins	INS	-	-	T																															ccatccatctccccattaccINSttttgccacaggtctggtga																								novel		C3L-00080_TP	C3L-00080_NB	-	-																c.1089dupA	p.Asp364ArgfsTer17	p.D364Rfs*17	ENST00000341462	8/19	121	82	39	106	106	0	sindel-varindel-pindel	FGFR1,frameshift_variant,p.Asp364ArgfsTer17,ENST00000341462,;FGFR1,frameshift_variant,p.Ala272SerfsTer47,ENST00000397103,;FGFR1,intron_variant,,ENST00000447712,NM_023110.2;FGFR1,intron_variant,,ENST00000397091,NM_015850.3;FGFR1,intron_variant,,ENST00000532791,NM_001174063.1;FGFR1,intron_variant,,ENST00000619564,;FGFR1,intron_variant,,ENST00000425967,NM_001174067.1;FGFR1,intron_variant,,ENST00000335922,NM_001174064.1;FGFR1,intron_variant,,ENST00000356207,NM_023105.2,NM_001174066.1;FGFR1,intron_variant,,ENST00000326324,NM_023106.2;FGFR1,intron_variant,,ENST00000397113,NM_001174065.1;FGFR1,intron_variant,,ENST00000397108,;FGFR1,downstream_gene_variant,,ENST00000525001,;FGFR1,downstream_gene_variant,,ENST00000529552,;FGFR1,downstream_gene_variant,,ENST00000526742,;FGFR1,downstream_gene_variant,,ENST00000533668,;FGFR1,downstream_gene_variant,,ENST00000530568,;RP11-350N15.4,intron_variant,,ENST00000528407,;FGFR1,intron_variant,,ENST00000530701,;FGFR1,downstream_gene_variant,,ENST00000527203,;FGFR1,non_coding_transcript_exon_variant,,ENST00000464163,;FGFR1,intron_variant,,ENST00000526570,;FGFR1,intron_variant,,ENST00000487647,;FGFR1,intron_variant,,ENST00000475621,;FGFR1,downstream_gene_variant,,ENST00000470826,;FGFR1,downstream_gene_variant,,ENST00000496296,;FGFR1,upstream_gene_variant,,ENST00000527114,;FGFR1,downstream_gene_variant,,ENST00000484370,;FGFR1,upstream_gene_variant,,ENST00000466021,;FGFR1,upstream_gene_variant,,ENST00000527745,;FGFR1,downstream_gene_variant,,ENST00000474970,;FGFR1,downstream_gene_variant,,ENST00000532386,;FGFR1,upstream_gene_variant,,ENST00000524528,;	T	ENST00000341462	Transcript	frameshift_variant,splice_region_variant	2031-2032/6054	1089-1090/1104	363-364/367	-/X	-/A		1		-1	FGFR1	HGNC	HGNC:3688	protein_coding			ENSP00000340636		C1KBH7	UPI0001998D01				8/19																			HIGH		insertion	5			1										PASS		.	.												T	7	5	7	38423025	38423025	-	T	1	0	1	1	0	0	0	0	0	5727	695	24	0		0	FGFR1	8	38423025	Frame_Shift_Ins	INS	-	C3L-00080_TP	11841047	38423025	106715611	362	2573											
IKBKB	0	.	GRCh38	chr8	42322449	42322449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagactgttgtccggctgcaGgagaagcggcagaaggagct	11	6	16	8	2	0	3	0	0	0	3	1	5	1	4	1	4	3	5	1	4	3	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1941G>T	p.Gln647His	p.Q647H	ENST00000520810	19/22	194	132	62	155	155	0	strelka-varscan-mutect	IKBKB,missense_variant,p.Gln588His,ENST00000416505,NM_001242778.1;IKBKB,missense_variant,p.Gln647His,ENST00000520810,NM_001556.2;IKBKB,missense_variant,p.Gln645His,ENST00000520835,NM_001190720.2;IKBKB,3_prime_UTR_variant,,ENST00000629753,;IKBKB,intron_variant,,ENST00000522147,;IKBKB,downstream_gene_variant,,ENST00000522785,;IKBKB,downstream_gene_variant,,ENST00000517502,;IKBKB,upstream_gene_variant,,ENST00000521225,;IKBKB,3_prime_UTR_variant,,ENST00000342222,;IKBKB,3_prime_UTR_variant,,ENST00000520655,;IKBKB,3_prime_UTR_variant,,ENST00000518679,;IKBKB,3_prime_UTR_variant,,ENST00000517890,;IKBKB,3_prime_UTR_variant,,ENST00000523517,;IKBKB,3_prime_UTR_variant,,ENST00000521661,;IKBKB,3_prime_UTR_variant,,ENST00000523105,;IKBKB,non_coding_transcript_exon_variant,,ENST00000520201,;IKBKB,non_coding_transcript_exon_variant,,ENST00000519938,;IKBKB,non_coding_transcript_exon_variant,,ENST00000522133,;IKBKB,non_coding_transcript_exon_variant,,ENST00000523018,;IKBKB,downstream_gene_variant,,ENST00000517917,;IKBKB,upstream_gene_variant,,ENST00000523599,;IKBKB,upstream_gene_variant,,ENST00000522103,;	T	ENST00000520810	Transcript	missense_variant	2127/3086	1941/2271	647/756	Q/H	caG/caT		1		1	IKBKB	HGNC	HGNC:5960	protein_coding	YES	CCDS6128.1	ENSP00000430684	O14920		UPI0000033729	NM_001556.2	tolerated(0.06)		19/22		hmmpanther:PTHR22969:SF7,hmmpanther:PTHR22969																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	42322449	42322449	G	T	1	0	0	0	0	1	0	0	0	7519	991	35	2		2	IKBKB	8	42322449	Missense_Mutation	SNP	G	C3L-00080_TP	3899424	42322449	102816187	363	2574											
SNTG1	0	.	GRCh38	chr8	50536694	50536694	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcaggacacattatcatgctCgtcgtggccgacgtctccag	8	10	10	13	4	3	0	2	0	1	0	6	2	3	1	2	2	1	1	2	2	1	1	rs746823892		C3L-00080_TP	C3L-00080_NB	C	C																c.566C>G	p.Ser189Trp	p.S189W	ENST00000522124	11/19	195	133	62	185	185	0	strelka-varscan-mutect	SNTG1,missense_variant,p.Ser189Trp,ENST00000522124,NM_018967.3;SNTG1,missense_variant,p.Ser189Trp,ENST00000518864,NM_001287813.1;SNTG1,missense_variant,p.Ser189Trp,ENST00000517473,NM_001287814.1;SNTG1,missense_variant,p.Ser189Trp,ENST00000520825,;	G	ENST00000522124	Transcript	missense_variant	1227/3504	566/1554	189/517	S/W	tCg/tGg	rs746823892,COSM4728771,COSM4728772	1		1	SNTG1	HGNC	HGNC:13740	protein_coding	YES	CCDS6147.1	ENSP00000429842	Q9NSN8	A0A024R7Y0	UPI000004A0DD	NM_018967.3	deleterious(0)		11/19		hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF2,SMART_domains:SM00233,Superfamily_domains:SSF50729											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs746823892	.												G	3	3	7	50536694	50536694	C	G	1	0	0	0	0	1	0	0	0	15194	893	31	4		4	SNTG1	8	50536694	Missense_Mutation	SNP	C	C3L-00080_TP	8214245	50536694	94601942	364	2575											
UBXN2B	0	.	GRCh38	chr8	58434393	58434393	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttttctatacccaaaAggttcagattttgcttaaac	11	19	4	7	0	2	1	1	0	1	1	2	1	2	1	1	1	3	2	1	1	6	10	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.424-2A>G		p.X142_splice	ENST00000399598		57	50	7	48	48	0	strelka-varscan-mutect	UBXN2B,splice_acceptor_variant,,ENST00000399598,NM_001077619.1;UBXN2B,splice_acceptor_variant,,ENST00000521796,;UBXN2B,splice_acceptor_variant,,ENST00000522978,;UBXN2B,splice_acceptor_variant,,ENST00000523409,;UBXN2B,splice_acceptor_variant,,ENST00000520732,;	G	ENST00000399598	Transcript	splice_acceptor_variant	-/5068	424/996	142/331				1		1	UBXN2B	HGNC	HGNC:27035	protein_coding	YES	CCDS43741.1	ENSP00000382507	Q14CS0		UPI000013F1FC	NM_001077619.1				4/7																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	7	58434393	58434393	A	G	1	0	0	0	0	0	0	1	0	17439	86	3	5		5	UBXN2B	8	58434393	Splice_Site	SNP	A	C3L-00080_TP	7897699	58434393	86704243	365	2576											
CHD7	0	.	GRCh38	chr8	60850621	60850621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctagcagatggtggtgacGggtaagaaggacattttaaa	13	10	14	4	1	0	3	0	1	0	2	0	4	0	4	0	4	2	3	0	4	5	4	rs753347128		C3L-00080_TP	C3L-00080_NB	G	G																c.5533G>T	p.Gly1845Trp	p.G1845W	ENST00000423902	26/38	152	101	51	119	119	0	strelka-varscan-mutect	CHD7,missense_variant,p.Gly1845Trp,ENST00000423902,NM_017780.3;CHD7,intron_variant,,ENST00000524602,;CHD7,upstream_gene_variant,,ENST00000529472,;CHD7,upstream_gene_variant,,ENST00000527921,;	T	ENST00000423902	Transcript	missense_variant,splice_region_variant	6012/11568	5533/8994	1845/2997	G/W	Ggg/Tgg	rs753347128,COSM3650079	1		1	CHD7	HGNC	HGNC:20626	protein_coding	YES	CCDS47865.1	ENSP00000392028	Q9P2D1		UPI0000251DA6	NM_017780.3	deleterious(0)		26/38		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs753347128	.												T	3	4	7	60850621	60850621	G	T	1	0	0	0	0	1	0	0	0	3089	1130	39	1		1	CHD7	8	60850621	Missense_Mutation	SNP	G	C3L-00080_TP	2416228	60850621	84288015	366	2577											
CSPP1	0	.	GRCh38	chr8	67193590	67193590	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaatgaatttcacaataaaCctattaatacaggtaaatga	19	12	5	5	0	1	3	1	3	0	0	1	3	1	3	1	1	2	1	1	1	10	6	rs181079660		C3L-00080_TP	C3L-00080_NB	C	C																c.3442C>A	p.Pro1148Thr	p.P1148T	ENST00000262210	28/29	101	58	43	102	102	0	strelka-varscan-mutect	CSPP1,missense_variant,p.Pro1148Thr,ENST00000262210,NM_024790.6;CSPP1,missense_variant,p.Pro803Thr,ENST00000519668,NM_001291339.1;ARFGEF1,intron_variant,,ENST00000520381,;ARFGEF1,intron_variant,,ENST00000518789,;ARFGEF1,downstream_gene_variant,,ENST00000262215,NM_006421.4;CSPP1,intron_variant,,ENST00000521168,;CSPP1,downstream_gene_variant,,ENST00000521324,;ARFGEF1,downstream_gene_variant,,ENST00000518290,;ARFGEF1,downstream_gene_variant,,ENST00000517955,;	A	ENST00000262210	Transcript	missense_variant	3473/4367	3442/3666	1148/1221	P/T	Cct/Act	rs181079660	1		1	CSPP1	HGNC	HGNC:26193	protein_coding	YES	CCDS43744.1	ENSP00000262210	Q1MSJ5		UPI00005A95D7	NM_024790.6	deleterious(0.04)		28/29		hmmpanther:PTHR21616																	MODERATE	1	SNV	1			1										PASS		rs181079660	.												A	3	1	7	67193590	67193590	C	A	1	0	0	0	0	1	0	0	0	3763	507	18	2		2	CSPP1	8	67193590	Missense_Mutation	SNP	C	C3L-00080_TP	6342969	67193590	77945046	367	2578											
TRPA1	0	.	GRCh38	chr8	72033786	72033786	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctcctagcatcatgctgAaggtctggattatagaaagc	12	12	9	8	0	3	2	1	1	2	1	4	3	3	3	1	2	3	2	1	2	6	4	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.2726T>A	p.Phe909Tyr	p.F909Y	ENST00000262209	23/27	326	248	78	293	292	1	strelka-varscan-mutect	TRPA1,missense_variant,p.Phe909Tyr,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Phe761Tyr,ENST00000523582,;MSC-AS1,intron_variant,,ENST00000457356,;MSC-AS1,intron_variant,,ENST00000522519,;MSC-AS1,intron_variant,,ENST00000518916,;MSC-AS1,intron_variant,,ENST00000512290,;MSC-AS1,intron_variant,,ENST00000519751,;MSC-AS1,intron_variant,,ENST00000524152,;MSC-AS1,intron_variant,,ENST00000519068,;TRPA1,downstream_gene_variant,,ENST00000519720,;TRPA1,downstream_gene_variant,,ENST00000522271,;	T	ENST00000262209	Transcript	missense_variant	2934/5223	2726/3360	909/1119	F/Y	tTc/tAc		1		-1	TRPA1	HGNC	HGNC:497	protein_coding	YES	CCDS34908.1	ENSP00000262209	O75762		UPI000021081A	NM_007332.2	deleterious(0)		23/27		Pfam_domain:PF00520,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	72033786	72033786	A	T	1	0	0	0	0	1	0	0	0	17082	246	9	4		4	TRPA1	8	72033786	Missense_Mutation	SNP	A	C3L-00080_TP	4840196	72033786	73104850	368	2579											
ZFHX4	0	.	GRCh38	chr8	76853772	76853772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcagaaagcacgaaagaGttatgagaatcaagcagaaa	19	6	10	6	2	2	4	2	1	0	4	3	6	2	4	0	0	2	3	0	0	6	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.6851G>A	p.Ser2284Asn	p.S2284N	ENST00000521891	10/11	210	141	69	183	183	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Ser2284Asn,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Ser2258Asn,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;	A	ENST00000521891	Transcript	missense_variant	7299/14019	6851/10851	2284/3616	S/N	aGt/aAt		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	tolerated(1)		10/11		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50071,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	7	76853772	76853772	G	A	1	0	0	0	0	1	0	0	0	18213	1029	36	3		3	ZFHX4	8	76853772	Missense_Mutation	SNP	G	C3L-00080_TP	4819986	76853772	68284864	369	2580											
ZFHX4	0	.	GRCh38	chr8	76863249	76863249	+	Nonsense_Mutation	SNP	G	G	T																															ctccttcatcctctctgtcaGgacagcagaccgagcaacag																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.9535G>T	p.Gly3179Ter	p.G3179*	ENST00000521891	11/11	170	124	46	156	156	0	strelka-varscan-mutect	ZFHX4,stop_gained,p.Gly3179Ter,ENST00000521891,NM_024721.4;ZFHX4,stop_gained,p.Gly3153Ter,ENST00000518282,;	T	ENST00000521891	Transcript	stop_gained	9983/14019	9535/10851	3179/3616	G/*	Gga/Tga		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4			11/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	HIGH	1	SNV	5			1										PASS		rs1000085402	.												T	4	4	7	76863249	76863249	G	T	1	0	0	0	0	0	1	0	0	18213	1001	35	2		2	ZFHX4	8	76863249	Nonsense_Mutation	SNP	G	C3L-00080_TP	9477	76863249	68275387	370	2581	60	2									
ZFHX4	0	.	GRCh38	chr8	76863250	76863250	+	Missense_Mutation	SNP	G	G	T																															tccttcatcctctctgtcagGacagcagaccgagcaacaga																										C3L-00080_TP	C3L-00080_NB	G	G																c.9536G>T	p.Gly3179Val	p.G3179V	ENST00000521891	11/11	168	122	46	157	157	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Gly3179Val,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Gly3153Val,ENST00000518282,;	T	ENST00000521891	Transcript	missense_variant	9984/14019	9536/10851	3179/3616	G/V	gGa/gTa	COSM5181127,COSM5181128	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	tolerated(0.31)		11/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	7	76863250	76863250	G	T	1	0	0	0	0	1	0	0	0	18213	1174	41	2		2	ZFHX4	8	76863250	Missense_Mutation	SNP	G	C3L-00080_TP	1	76863250	68275386	371	2582	60	2									
LRRCC1	0	.	GRCh38	chr8	85141469	85141469	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcaagctgaaatagcAcagctggccaatgaaaagca	16	6	9	10	0	2	2	2	2	0	0	2	2	2	2	1	1	4	5	1	1	6	1	rs751088822		C3L-00080_TP	C3L-00080_NB	A	A																c.2928A>T	p.=	p.A976A	ENST00000360375	18/19	104	79	25	131	131	0	strelka-varscan-mutect	LRRCC1,synonymous_variant,p.=,ENST00000414626,;LRRCC1,synonymous_variant,p.=,ENST00000360375,NM_033402.4;LRRCC1,downstream_gene_variant,,ENST00000522770,;LRRCC1,downstream_gene_variant,,ENST00000517875,;LRRCC1,downstream_gene_variant,,ENST00000522567,;	T	ENST00000360375	Transcript	synonymous_variant	3077/3813	2928/3099	976/1032	A	gcA/gcT	rs751088822	1		1	LRRCC1	HGNC	HGNC:29373	protein_coding	YES	CCDS43750.1	ENSP00000353538	Q9C099		UPI000021002F	NM_033402.4			18/19		Coiled-coils_(Ncoils):Coil																	LOW	1	SNV	1			1										PASS		rs751088822	.												T	2	4	7	85141469	85141469	A	T	1	0	0	0	0	0	0	0	1	8931	146	6	4		4	LRRCC1	8	85141469	Silent	SNP	A	C3L-00080_TP	8278219	85141469	59997167	372	2583											
CPNE3	0	.	GRCh38	chr8	86544738	86544738	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttattatatttaatttcAggtggagtgttatgattatg	10	22	8	1	0	1	1	1	1	0	0	1	2	1	2	0	2	0	1	0	2	6	10	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.634-2A>G		p.X212_splice	ENST00000517490		65	46	19	82	82	0	strelka-varscan-mutect	CPNE3,splice_acceptor_variant,,ENST00000517490,NM_003909.4;CPNE3,splice_acceptor_variant,,ENST00000621783,;CPNE3,splice_acceptor_variant,,ENST00000517391,;CPNE3,splice_acceptor_variant,,ENST00000517862,;CPNE3,upstream_gene_variant,,ENST00000614678,;CPNE3,upstream_gene_variant,,ENST00000517354,;	G	ENST00000517490	Transcript	splice_acceptor_variant	-/4865	634/1614	212/537				1		1	CPNE3	HGNC	HGNC:2316	protein_coding	YES	CCDS6243.1	ENSP00000477590	O75131	A0A024R994	UPI0000127C13	NM_003909.4				8/16																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	7	86544738	86544738	A	G	1	0	0	0	0	0	0	1	0	3608	202	7	5		5	CPNE3	8	86544738	Splice_Site	SNP	A	C3L-00080_TP	1403269	86544738	58593898	373	2584											
GDF6	0	.	GRCh38	chr8	96144583	96144583	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctacctgcagccgcacgactCcaccaccatgtcctcgtact	8	8	6	19	3	0	0	0	0	0	0	3	1	2	0	6	0	4	3	6	0	2	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1348G>C	p.Glu450Gln	p.E450Q	ENST00000287020	2/2	271	178	93	218	218	0	strelka-varscan-mutect	GDF6,missense_variant,p.Glu450Gln,ENST00000287020,NM_001001557.2;GDF6,3_prime_UTR_variant,,ENST00000621429,;GDF6,3_prime_UTR_variant,,ENST00000620978,;KB-1043D8.8,upstream_gene_variant,,ENST00000602571,;	G	ENST00000287020	Transcript	missense_variant	1448/3701	1348/1368	450/455	E/Q	Gag/Cag		1		-1	GDF6	HGNC	HGNC:4221	protein_coding	YES	CCDS34926.1	ENSP00000287020	Q6KF10	A0A0S2A5D6	UPI0000047253	NM_001001557.2	deleterious(0)		2/2		Gene3D:2.10.90.10,Pfam_domain:PF00019,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF43,SMART_domains:SM00204,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	96144583	96144583	C	G	1	0	0	0	0	1	0	0	0	6190	864	30	4		4	GDF6	8	96144583	Missense_Mutation	SNP	C	C3L-00080_TP	9599845	96144583	48994053	374	2585											
STK3	0	.	GRCh38	chr8	98596106	98596106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaacaaaatcggtgaaatCatcggaccaaagttctggct	14	11	8	8	2	2	1	1	1	1	0	4	2	2	2	1	3	1	2	1	3	5	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.832G>T	p.Asp278Tyr	p.D278Y	ENST00000523601	9/13	221	175	46	197	197	0	strelka-varscan-mutect	STK3,missense_variant,p.Asp278Tyr,ENST00000523601,NM_001256312.1;STK3,missense_variant,p.Asp250Tyr,ENST00000419617,NM_006281.3;STK3,missense_variant,p.Asp139Tyr,ENST00000617590,NM_001256313.1;STK3,missense_variant,p.Asp139Tyr,ENST00000518165,;STK3,non_coding_transcript_exon_variant,,ENST00000521768,;STK3,non_coding_transcript_exon_variant,,ENST00000518582,;STK3,non_coding_transcript_exon_variant,,ENST00000523159,;STK3,non_coding_transcript_exon_variant,,ENST00000520653,;STK3,non_coding_transcript_exon_variant,,ENST00000518627,;STK3,upstream_gene_variant,,ENST00000522924,;STK3,3_prime_UTR_variant,,ENST00000424861,;STK3,3_prime_UTR_variant,,ENST00000521649,;STK3,non_coding_transcript_exon_variant,,ENST00000520053,;	A	ENST00000523601	Transcript	missense_variant	1232/3107	832/1560	278/519	D/Y	Gat/Tat		1		-1	STK3	HGNC	HGNC:11406	protein_coding	YES	CCDS59108.1	ENSP00000429744	Q13188		UPI00004FB517	NM_001256312.1	deleterious(0)		9/13		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF425,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		rs1393163172	.												A	3	1	7	98596106	98596106	C	A	1	0	0	0	0	1	0	0	0	15672	826	29	2		2	STK3	8	98596106	Missense_Mutation	SNP	C	C3L-00080_TP	2451523	98596106	46542530	375	2586											
ANKRD46	0	.	GRCh38	chr8	100510603	100510603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggattcggcttctgtCttgccttgcaaagcttccaa	6	13	10	12	1	2	0	0	0	2	0	4	1	3	1	3	3	3	3	3	3	2	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.673G>T	p.Asp225Tyr	p.D225Y	ENST00000520552	6/6	208	141	67	120	120	0	strelka-varscan-mutect	ANKRD46,missense_variant,p.Asp225Tyr,ENST00000520552,NM_001270379.1;	A	ENST00000520552	Transcript	missense_variant	835/1686	673/699	225/232	D/Y	Gac/Tac		1		-1	ANKRD46	HGNC	HGNC:27229	protein_coding	YES	CCDS59109.1	ENSP00000429015	Q86W74	A0A024R9G2	UPI000018CE82	NM_001270379.1			6/6																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	100510603	100510603	C	A	1	0	0	0	0	1	0	0	0	779	913	32	2		2	ANKRD46	8	100510603	Missense_Mutation	SNP	C	C3L-00080_TP	1914497	100510603	44628033	376	2587											
RIMS2	0	.	GRCh38	chr8	103766273	103766273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaacaagaaatcctcaCtaaatcaggagcatggtttt	18	9	6	8	0	2	1	2	0	0	1	3	2	3	2	1	2	3	2	1	2	7	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.434C>A	p.Thr145Asn	p.T145N	ENST00000504942	3/24	192	123	69	136	134	2	strelka-varscan	RIMS2,missense_variant,p.Thr145Asn,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Thr87Asn,ENST00000626043,;RIMS2,missense_variant,p.Thr149Asn,ENST00000632716,;RIMS2,non_coding_transcript_exon_variant,,ENST00000395361,;RP11-771F20.1,upstream_gene_variant,,ENST00000481577,;	A	ENST00000504942	Transcript	missense_variant	573/4228	434/4050	145/1349	T/N	aCt/aAt		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0)		3/24		Gene3D:3.30.40.10,Pfam_domain:PF02318,PROSITE_profiles:PS50916,hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15,Superfamily_domains:SSF57903																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	7	103766273	103766273	C	A	1	0	0	0	0	1	0	0	0	13543	565	20	2		2	RIMS2	8	103766273	Missense_Mutation	SNP	C	C3L-00080_TP	3255670	103766273	41372363	377	2588											
RIMS2	0	.	GRCh38	chr8	103942836	103942836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggtacaaacttcagacgCatgatgtctcttcattgcca	11	13	7	10	1	3	2	2	1	1	1	4	2	3	2	1	1	3	2	1	1	2	5			C3L-00080_TP	C3L-00080_NB	C	C																c.2611C>A	p.His871Asn	p.H871N	ENST00000504942	14/24	227	161	66	194	193	1	strelka-varscan-mutect	RIMS2,missense_variant,p.His663Asn,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.His649Asn,ENST00000436393,;RIMS2,missense_variant,p.His871Asn,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.His813Asn,ENST00000626043,;RIMS2,missense_variant,p.His663Asn,ENST00000408894,;RIMS2,missense_variant,p.His710Asn,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.His859Asn,ENST00000632716,;RIMS2,missense_variant,p.His265Asn,ENST00000507677,;RIMS2,missense_variant,p.His663Asn,ENST00000515551,;	A	ENST00000504942	Transcript	missense_variant	2750/4228	2611/4050	871/1349	H/N	Cat/Aat	COSM1094580,COSM1094581,COSM1094582,COSM1597291,COSM1597292	1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0)		14/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15											1,1,1,1,1						MODERATE	1	SNV	2		1,1,1,1,1	1										PASS		rs1295663978	.												A	3	1	7	103942836	103942836	C	A	1	0	0	0	0	1	0	0	0	13543	710	25	2		2	RIMS2	8	103942836	Missense_Mutation	SNP	C	C3L-00080_TP	176563	103942836	41195800	378	2589											
RIMS2	0	.	GRCh38	chr8	104013486	104013486	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccatatcacagatccagatCaacagaacaacggcctctcc	14	6	6	15	1	3	3	2	0	1	3	5	3	4	3	4	1	3	0	4	1	4	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.3089C>G	p.Ser1030Ter	p.S1030*	ENST00000504942	18/24	209	162	47	170	170	0	strelka-varscan-mutect	RIMS2,stop_gained,p.Ser844Ter,ENST00000507740,NM_014677.4;RIMS2,stop_gained,p.Ser1030Ter,ENST00000504942,NM_001100117.2;RIMS2,stop_gained,p.Ser972Ter,ENST00000626043,;RIMS2,stop_gained,p.Ser844Ter,ENST00000408894,;RIMS2,stop_gained,p.Ser869Ter,ENST00000262231,NM_001282881.1;RIMS2,stop_gained,p.Ser1040Ter,ENST00000632716,;RIMS2,intron_variant,,ENST00000436393,;	G	ENST00000504942	Transcript	stop_gained	3228/4228	3089/4050	1030/1349	S/*	tCa/tGa		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2			18/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15																	HIGH	1	SNV	2			1										PASS		rs1187238197	.												G	4	3	7	104013486	104013486	C	G	1	0	0	0	0	0	1	0	0	13543	838	29	4		4	RIMS2	8	104013486	Nonsense_Mutation	SNP	C	C3L-00080_TP	70650	104013486	41125150	379	2590											
DCSTAMP	0	.	GRCh38	chr8	104348922	104348922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttaaaggtctcctagatGgtatgacttgcaacctaagg	12	12	9	8	0	1	2	0	1	1	1	2	2	1	2	2	3	2	2	2	3	6	6	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.370G>T	p.Gly124Cys	p.G124C	ENST00000297581	2/4	225	167	58	174	174	0	strelka-varscan-mutect	DCSTAMP,missense_variant,p.Gly124Cys,ENST00000297581,NM_030788.3;DCSTAMP,missense_variant,p.Gly124Cys,ENST00000622554,NM_001257317.1;DCSTAMP,missense_variant,p.Gly124Cys,ENST00000517991,;DCSTAMP,non_coding_transcript_exon_variant,,ENST00000518023,;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,upstream_gene_variant,,ENST00000518051,;DCSTAMP,downstream_gene_variant,,ENST00000517364,;DCSTAMP,downstream_gene_variant,,ENST00000519562,;	T	ENST00000297581	Transcript	missense_variant	419/1953	370/1413	124/470	G/C	Ggt/Tgt		1		1	DCSTAMP	HGNC	HGNC:18549	protein_coding	YES	CCDS6301.1	ENSP00000297581	Q9H295		UPI000003BCB5	NM_030788.3	deleterious(0)		2/4		hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	104348922	104348922	G	T	1	0	0	0	0	1	0	0	0	4106	1348	47	2		2	DCSTAMP	8	104348922	Missense_Mutation	SNP	G	C3L-00080_TP	335436	104348922	40789714	380	2591											
EMC2	0	.	GRCh38	chr8	108453066	108453066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccttattttttcagttttGtcttcaagagctgagaagac	10	16	7	8	0	3	3	2	1	1	3	3	4	3	3	1	0	1	2	1	0	3	7	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.224G>T	p.Cys75Phe	p.C75F	ENST00000220853	4/11	68	63	5	67	67	0	varscan-mutect	EMC2,missense_variant,p.Cys75Phe,ENST00000220853,NM_014673.3;EMC2,missense_variant,p.Cys76Phe,ENST00000524143,;EMC2,missense_variant,p.Cys23Phe,ENST00000519642,;EMC2,non_coding_transcript_exon_variant,,ENST00000517784,;EMC2,non_coding_transcript_exon_variant,,ENST00000517593,;	T	ENST00000220853	Transcript	missense_variant	259/1243	224/894	75/297	C/F	tGt/tTt		1		1	EMC2	HGNC	HGNC:28963	protein_coding	YES	CCDS6309.1	ENSP00000220853	Q15006		UPI000013927E	NM_014673.3	deleterious(0.01)		4/11		hmmpanther:PTHR12760,Gene3D:1.25.40.10,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	108453066	108453066	G	T	1	0	0	0	0	1	0	0	0	4923	1391	48	2		2	EMC2	8	108453066	Missense_Mutation	SNP	G	C3L-00080_TP	4104144	108453066	36685570	381	2592											
TRPS1	0	.	GRCh38	chr8	115587587	115587587	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgcactgacggcatttgTagcagctgtgtgctctcctg	7	12	11	11	1	1	1	0	1	1	0	2	1	1	1	1	1	5	6	1	1	2	2	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.2114A>T	p.Tyr705Phe	p.Y705F	ENST00000395715	5/7	301	203	98	239	239	0	strelka-varscan-mutect	TRPS1,missense_variant,p.Tyr705Phe,ENST00000395715,NM_014112.4,NM_001282903.2;TRPS1,missense_variant,p.Tyr692Phe,ENST00000220888,;TRPS1,missense_variant,p.Tyr696Phe,ENST00000520276,NM_001282902.2;TRPS1,missense_variant,p.Tyr446Phe,ENST00000519076,;TRPS1,missense_variant,p.Tyr692Phe,ENST00000519674,;TRPS1,missense_variant,p.Tyr496Phe,ENST00000517323,;	A	ENST00000395715	Transcript	missense_variant	2692/9990	2114/3885	705/1294	Y/F	tAc/tTc		1		-1	TRPS1	HGNC	HGNC:12340	protein_coding	YES	CCDS6318.2	ENSP00000379065	Q9UHF7		UPI00002104B8	NM_014112.4,NM_001282903.2	tolerated_low_confidence(0.1)		5/7		PROSITE_profiles:PS50157,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF176,SMART_domains:SM00355																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	115587587	115587587	T	A	1	0	0	0	0	1	0	0	0	17099	1638	57	4		4	TRPS1	8	115587587	Missense_Mutation	SNP	T	C3L-00080_TP	7134521	115587587	29551049	382	2593											
EIF3H	0	.	GRCh38	chr8	116657288	116657288	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtatgcctttagtgagaGagatccttgggcagttttta	8	16	11	6	0	1	2	0	1	1	2	2	4	2	2	2	1	1	3	2	1	3	7	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.484C>G	p.Leu162Val	p.L162V	ENST00000521861	4/8	412	266	146	325	325	0	strelka-varscan-mutect	EIF3H,missense_variant,p.Leu162Val,ENST00000521861,NM_003756.2;EIF3H,missense_variant,p.Leu176Val,ENST00000276682,;EIF3H,missense_variant,p.Leu159Val,ENST00000611080,;EIF3H,missense_variant,p.Leu130Val,ENST00000518949,;EIF3H,missense_variant,p.Leu178Val,ENST00000518995,;EIF3H,downstream_gene_variant,,ENST00000522453,;EIF3H,3_prime_UTR_variant,,ENST00000522800,;EIF3H,non_coding_transcript_exon_variant,,ENST00000520289,;EIF3H,downstream_gene_variant,,ENST00000518034,;EIF3H,downstream_gene_variant,,ENST00000517974,;EIF3H,downstream_gene_variant,,ENST00000519046,;	C	ENST00000521861	Transcript	missense_variant	508/3959	484/1059	162/352	L/V	Ctc/Gtc		1		-1	EIF3H	HGNC	HGNC:3273	protein_coding	YES	CCDS6319.1	ENSP00000429931	O15372	Q6IB98	UPI00000477E8	NM_003756.2	deleterious(0)		4/8		HAMAP:MF_03007,hmmpanther:PTHR10410:SF3,hmmpanther:PTHR10410,SMART_domains:SM00232																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	116657288	116657288	G	C	1	0	0	0	0	1	0	0	0	4852	942	33	4		4	EIF3H	8	116657288	Missense_Mutation	SNP	G	C3L-00080_TP	1069701	116657288	28481348	383	2594											
FER1L6	0	.	GRCh38	chr8	124013444	124013444	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaggaagaaagtatagAagaagtgagagaattgatca	18	10	11	2	0	2	6	2	2	0	4	2	8	2	7	0	1	0	1	0	1	7	5	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.1835A>T	p.Glu612Val	p.E612V	ENST00000522917	15/41	116	99	17	89	89	0	strelka-varscan-mutect	FER1L6,missense_variant,p.Glu612Val,ENST00000522917,NM_001039112.2;FER1L6-AS1,intron_variant,,ENST00000518567,;	T	ENST00000522917	Transcript	missense_variant	2041/6051	1835/5574	612/1857	E/V	gAa/gTa		1		1	FER1L6	HGNC	HGNC:28065	protein_coding	YES	CCDS43767.1	ENSP00000428280	Q2WGJ9		UPI0000E9B4AA	NM_001039112.2	tolerated(0.13)		15/41		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	124013444	124013444	A	T	1	0	0	0	0	1	0	0	0	5678	246	9	4		4	FER1L6	8	124013444	Missense_Mutation	SNP	A	C3L-00080_TP	7356156	124013444	21125192	384	2595											
AGO2	0	.	GRCh38	chr8	140532148	140532148	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaggtatggcttccttCagcactgcagggatgagaga	10	8	13	10	0	1	3	1	1	0	2	2	5	2	4	2	3	2	4	2	3	1	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2476G>T	p.Glu826Ter	p.E826*	ENST00000220592	19/19	195	109	86	120	120	0	strelka-varscan-mutect	AGO2,stop_gained,p.Glu826Ter,ENST00000220592,NM_012154.3;AGO2,stop_gained,p.Glu792Ter,ENST00000519980,NM_001164623.1;AGO2,non_coding_transcript_exon_variant,,ENST00000520628,;AGO2,3_prime_UTR_variant,,ENST00000523609,;AGO2,downstream_gene_variant,,ENST00000520412,;AGO2,downstream_gene_variant,,ENST00000519347,;	A	ENST00000220592	Transcript	stop_gained	2589/14581	2476/2580	826/859	E/*	Gaa/Taa		1		-1	AGO2	HGNC	HGNC:3263	protein_coding	YES	CCDS6380.1	ENSP00000220592	Q9UKV8		UPI0000168652	NM_012154.3			19/19		HAMAP:MF_03031,hmmpanther:PTHR22891:SF17,hmmpanther:PTHR22891																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	7	140532148	140532148	C	A	1	0	0	0	0	0	1	0	0	465	840	29	2		2	AGO2	8	140532148	Nonsense_Mutation	SNP	C	C3L-00080_TP	16518704	140532148	4606488	385	2596											
CYP11B1	0	.	GRCh38	chr8	142879678	142879678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcagccacctgttgcCtggacgccggggcatggctt	5	8	13	15	2	1	0	1	0	0	0	1	1	1	1	5	4	3	3	5	4	0	2			C3L-00080_TP	C3L-00080_NB	C	C																c.136G>T	p.Gly46Cys	p.G46C	ENST00000292427	1/9	818	507	311	532	531	1	strelka-varscan-mutect	CYP11B1,missense_variant,p.Gly46Cys,ENST00000292427,NM_000497.3;CYP11B1,missense_variant,p.Gly46Cys,ENST00000377675,;CYP11B1,missense_variant,p.Gly46Cys,ENST00000517471,NM_001026213.1;GML,intron_variant,,ENST00000522728,;CYP11B1,upstream_gene_variant,,ENST00000519285,;CYP11B1,non_coding_transcript_exon_variant,,ENST00000314111,;	A	ENST00000292427	Transcript	missense_variant	169/2664	136/1512	46/503	G/C	Ggc/Tgc	COSM749811	1		-1	CYP11B1	HGNC	HGNC:2591	protein_coding	YES	CCDS6392.1	ENSP00000292427	P15538		UPI000013E0BA	NM_000497.3	deleterious(0.04)		1/9		hmmpanther:PTHR24279,hmmpanther:PTHR24279:SF46,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00408											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	7	142879678	142879678	C	A	1	0	0	0	0	1	0	0	0	3948	681	24	2		2	CYP11B1	8	142879678	Missense_Mutation	SNP	C	C3L-00080_TP	2347530	142879678	2258958	386	2597											
LY6H	0	.	GRCh38	chr8	143158260	143158260	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagacatcagggcccaGcccagaggagggcaggcccc	10	1	17	13	0	1	2	1	0	0	2	1	5	1	4	4	6	1	1	4	6	0	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.476C>G	p.Ala159Gly	p.A159G	ENST00000414417	5/5	195	118	77	120	120	0	varscan-mutect	LY6H,missense_variant,p.Ala159Gly,ENST00000414417,NM_001130478.1;LY6H,missense_variant,p.Ala138Gly,ENST00000615409,;LY6H,missense_variant,p.Ala159Gly,ENST00000342752,NM_001135655.1;LY6H,missense_variant,p.Ala138Gly,ENST00000430474,NM_002347.4;LY6H,non_coding_transcript_exon_variant,,ENST00000479685,;	C	ENST00000414417	Transcript	missense_variant	710/1056	476/486	159/161	A/G	gCt/gGt		1		-1	LY6H	HGNC	HGNC:6728	protein_coding	YES	CCDS47926.1	ENSP00000399485	O94772		UPI00005A7901	NM_001130478.1	tolerated(0.09)		5/5		hmmpanther:PTHR32217,hmmpanther:PTHR32217:SF5,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	143158260	143158260	G	C	1	0	0	0	0	1	0	0	0	9008	971	34	4		4	LY6H	8	143158260	Missense_Mutation	SNP	G	C3L-00080_TP	278582	143158260	1980376	387	2598											
EPPK1	0	.	GRCh38	chr8	143867394	143867394	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccaggcccacatccacagCctcatccacagagagcttct	11	6	6	18	0	2	1	1	0	1	1	4	2	4	1	5	1	2	1	5	1	0	1	rs782767924		C3L-00080_TP	C3L-00080_NB	C	C																c.5860G>T	p.Ala1954Ser	p.A1954S	ENST00000615648	2/2	449	280	169	271	271	0	strelka-varscan-mutect	EPPK1,missense_variant,p.Ala1954Ser,ENST00000615648,NM_031308.3;EPPK1,missense_variant,p.Ala1929Ser,ENST00000568225,;	A	ENST00000615648	Transcript	missense_variant	5932/16002	5860/15267	1954/5088	A/S	Gct/Tct	rs782767924	1		-1	EPPK1	HGNC	HGNC:15577	protein_coding	YES	CCDS75800.1	ENSP00000484472		A0A087X1U6	UPI0002065B93	NM_031308.3	deleterious(0)		2/2		Gene3D:3.90.1290.10,Pfam_domain:PF00681,SMART_domains:SM00250,Superfamily_domains:SSF75399																	MODERATE	1	SNV	5			1										PASS		rs782767924	.												A	3	1	7	143867394	143867394	C	A	1	0	0	0	0	1	0	0	0	5038	739	26	2		2	EPPK1	8	143867394	Missense_Mutation	SNP	C	C3L-00080_TP	709134	143867394	1271242	388	2599											
MPDZ	0	.	GRCh38	chr9	13168467	13168467	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaatggacaagatgcagtcCccaatggcaatccggccatc	12	8	9	12	1	0	1	0	0	0	1	3	2	2	2	4	3	1	2	4	3	4	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.3153G>A	p.=	p.G1051G	ENST00000541718	22/46	315	249	66	378	378	0	strelka-varscan-mutect	MPDZ,synonymous_variant,p.=,ENST00000319217,;MPDZ,synonymous_variant,p.=,ENST00000541718,NM_003829.4;MPDZ,synonymous_variant,p.=,ENST00000381022,NM_001261406.1;MPDZ,synonymous_variant,p.=,ENST00000546205,;MPDZ,synonymous_variant,p.=,ENST00000447879,;MPDZ,synonymous_variant,p.=,ENST00000536827,NM_001261407.1;MPDZ,synonymous_variant,p.=,ENST00000545857,;MPDZ,upstream_gene_variant,,ENST00000538841,;MPDZ,upstream_gene_variant,,ENST00000433359,;MPDZ,upstream_gene_variant,,ENST00000542239,;MPDZ,non_coding_transcript_exon_variant,,ENST00000539508,;MPDZ,non_coding_transcript_exon_variant,,ENST00000319198,;	T	ENST00000541718	Transcript	synonymous_variant	3375/7603	3153/6126	1051/2041	G	ggG/ggA		1		-1	MPDZ	HGNC	HGNC:7208	protein_coding	YES	CCDS47951.1	ENSP00000439807	O75970		UPI00015367D3	NM_003829.4			22/46		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	13168467	13168467	C	T	1	0	0	0	0	0	0	0	1	9687	610	22	3		3	MPDZ	9	13168467	Silent	SNP	C	C3L-00080_TP		13168467	125226250	389	2600											
MPDZ	0	.	GRCh38	chr9	13193216	13193216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccgctgtgtccaacaggaCcctctggtagaacagatcgg	9	8	11	13	2	1	2	0	0	1	2	4	3	3	3	3	3	2	2	3	3	3	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1754G>T	p.Gly585Val	p.G585V	ENST00000541718	14/46	76	64	12	85	85	0	strelka-varscan-mutect	MPDZ,missense_variant,p.Gly585Val,ENST00000319217,;MPDZ,missense_variant,p.Gly585Val,ENST00000541718,NM_003829.4;MPDZ,missense_variant,p.Gly585Val,ENST00000381022,NM_001261406.1;MPDZ,missense_variant,p.Gly585Val,ENST00000546205,;MPDZ,missense_variant,p.Gly585Val,ENST00000447879,;MPDZ,missense_variant,p.Gly585Val,ENST00000536827,NM_001261407.1;MPDZ,upstream_gene_variant,,ENST00000539508,;	A	ENST00000541718	Transcript	missense_variant	1976/7603	1754/6126	585/2041	G/V	gGt/gTt		1		-1	MPDZ	HGNC	HGNC:7208	protein_coding	YES	CCDS47951.1	ENSP00000439807	O75970		UPI00015367D3	NM_003829.4	deleterious(0)		14/46		Gene3D:2.30.42.10,PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	13193216	13193216	C	A	1	0	0	0	0	1	0	0	0	9687	507	18	2		2	MPDZ	9	13193216	Missense_Mutation	SNP	C	C3L-00080_TP	24749	13193216	125201501	390	2601											
FREM1	0	.	GRCh38	chr9	14789057	14789057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtatctcagcaagttcagatCcacttcctcctgagtgcatt	9	13	7	12	0	2	2	2	1	1	1	6	2	5	2	3	0	2	4	3	0	2	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.4039G>T	p.Asp1347Tyr	p.D1347Y	ENST00000422223	24/38	120	96	24	122	122	0	strelka-varscan-mutect	FREM1,missense_variant,p.Asp1347Tyr,ENST00000422223,NM_144966.5;FREM1,missense_variant,p.Asp1347Tyr,ENST00000380880,;RP11-265B7.1,upstream_gene_variant,,ENST00000635735,;FREM1,non_coding_transcript_exon_variant,,ENST00000466679,;FREM1,upstream_gene_variant,,ENST00000485068,;FREM1,non_coding_transcript_exon_variant,,ENST00000497634,;FREM1,intron_variant,,ENST00000380875,;	A	ENST00000422223	Transcript	missense_variant	4855/10086	4039/6540	1347/2179	D/Y	Gat/Tat		1		-1	FREM1	HGNC	HGNC:23399	protein_coding	YES	CCDS47952.1	ENSP00000412940	Q5H8C1		UPI000057A218	NM_144966.5	deleterious(0)		24/38		Pfam_domain:PF16184,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF24																	MODERATE	1	SNV	5			1										PASS		rs1249220367	.												A	3	1	7	14789057	14789057	C	A	1	0	0	0	0	1	0	0	0	5911	855	30	2		2	FREM1	9	14789057	Missense_Mutation	SNP	C	C3L-00080_TP	1595841	14789057	123605660	391	2602											
CCDC171	0	.	GRCh38	chr9	15724868	15724868	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttaataagcactttaaaAgtggaactacaaaatgtgct	16	12	7	6	0	0	0	0	0	0	0	0	1	0	1	0	1	4	3	0	1	8	6	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.1584A>G	p.=	p.K528K	ENST00000380701	14/26	210	155	55	283	283	0	strelka-varscan-mutect	CCDC171,synonymous_variant,p.=,ENST00000380701,NM_173550.2;	G	ENST00000380701	Transcript	synonymous_variant	1912/6512	1584/3981	528/1326	K	aaA/aaG		1		1	CCDC171	HGNC	HGNC:29828	protein_coding	YES	CCDS6481.1	ENSP00000370077	Q6TFL3		UPI000021C44B	NM_173550.2			14/26		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF388																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	7	15724868	15724868	A	G	1	0	0	0	0	0	0	0	1	2488	69	3	5		5	CCDC171	9	15724868	Silent	SNP	A	C3L-00080_TP	935811	15724868	122669849	392	2603											
CCDC171	0	.	GRCh38	chr9	15727906	15727906	+	Missense_Mutation	SNP	T	T	G																															tcacaccttatatcagcactTggtagcaggctgtgtgctca																								novel		C3L-00080_TP	C3L-00080_NB	T	T																c.1730T>G	p.Leu577Trp	p.L577W	ENST00000380701	15/26	95	73	22	109	109	0	strelka-varscan-mutect	CCDC171,missense_variant,p.Leu577Trp,ENST00000380701,NM_173550.2;	G	ENST00000380701	Transcript	missense_variant	2058/6512	1730/3981	577/1326	L/W	tTg/tGg		1		1	CCDC171	HGNC	HGNC:29828	protein_coding	YES	CCDS6481.1	ENSP00000370077	Q6TFL3		UPI000021C44B	NM_173550.2	deleterious(0)		15/26		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF388																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	15727906	15727906	T	G	1	0	0	0	0	1	0	0	0	2488	1821	63	5		5	CCDC171	9	15727906	Missense_Mutation	SNP	T	C3L-00080_TP	3038	15727906	122666811	393	2604	61	2									
CCDC171	0	.	GRCh38	chr9	15727907	15727907	+	Missense_Mutation	SNP	G	G	T																															cacaccttatatcagcacttGgtagcaggctgtgtgctcat																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1731G>T	p.Leu577Phe	p.L577F	ENST00000380701	15/26	97	76	21	111	111	0	strelka-varscan-mutect	CCDC171,missense_variant,p.Leu577Phe,ENST00000380701,NM_173550.2;	T	ENST00000380701	Transcript	missense_variant	2059/6512	1731/3981	577/1326	L/F	ttG/ttT		1		1	CCDC171	HGNC	HGNC:29828	protein_coding	YES	CCDS6481.1	ENSP00000370077	Q6TFL3		UPI000021C44B	NM_173550.2	deleterious(0)		15/26		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF388																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	15727907	15727907	G	T	1	0	0	0	0	1	0	0	0	2488	1339	47	2		2	CCDC171	9	15727907	Missense_Mutation	SNP	G	C3L-00080_TP	1	15727907	122666810	394	2605	61	2									
ADAMTSL1	0	.	GRCh38	chr9	18504862	18504862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacgctccgaggaggaccggGacggcctatgggatgcctgg	7	5	17	12	4	0	0	0	0	0	0	1	5	1	4	4	6	1	1	4	6	1	1			C3L-00080_TP	C3L-00080_NB	G	G																c.97G>A	p.Asp33Asn	p.D33N	ENST00000380548	2/29	147	119	28	173	173	0	strelka-varscan-mutect	ADAMTSL1,missense_variant,p.Asp33Asn,ENST00000380548,NM_001040272.5;ADAMTSL1,missense_variant,p.Asp33Asn,ENST00000276935,;ADAMTSL1,missense_variant,p.Asp33Asn,ENST00000380566,;ADAMTSL1,missense_variant,p.Asp33Asn,ENST00000327883,NM_052866.4;ADAMTSL1,missense_variant,p.Asp33Asn,ENST00000380570,;ADAMTSL1,missense_variant,p.Asp33Asn,ENST00000431052,;ADAMTSL1,missense_variant,p.Asp81Asn,ENST00000636209,;	A	ENST00000380548	Transcript	missense_variant	436/8030	97/5289	33/1762	D/N	Gac/Aac	COSM3906413,COSM3906414,COSM3906415	1		1	ADAMTSL1	HGNC	HGNC:14632	protein_coding	YES	CCDS47954.1	ENSP00000369921	Q8N6G6		UPI000004FD83	NM_001040272.5	deleterious(0)		2/29		PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723,Gene3D:2.20.100.10,Superfamily_domains:SSF82895											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												A	3	1	7	18504862	18504862	G	A	1	0	0	0	0	1	0	0	0	318	1174	41	3		3	ADAMTSL1	9	18504862	Missense_Mutation	SNP	G	C3L-00080_TP	2776955	18504862	119889855	395	2606											
DENND4C	0	.	GRCh38	chr9	19305363	19305363	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccccagatgatctttccAtttcagtggcaatgcccata	9	14	6	12	0	2	2	1	1	1	1	4	2	4	2	4	1	1	1	4	1	2	4	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.1323A>T	p.=	p.P441P	ENST00000602925	10/32	80	55	25	98	98	0	strelka-varscan-mutect	DENND4C,synonymous_variant,p.=,ENST00000602925,NM_017925.6;DENND4C,synonymous_variant,p.=,ENST00000434457,;DENND4C,synonymous_variant,p.=,ENST00000494124,;DENND4C,non_coding_transcript_exon_variant,,ENST00000380437,;	T	ENST00000602925	Transcript	synonymous_variant	1739/6831	1323/5730	441/1909	P	ccA/ccT		1		1	DENND4C	HGNC	HGNC:26079	protein_coding	YES	CCDS6491.3	ENSP00000473565		R4GNB2	UPI0000EE421F	NM_017925.6			10/32		PROSITE_profiles:PS50211,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF17,Pfam_domain:PF02141,SMART_domains:SM00799																	LOW	1	SNV	5			1										PASS		rs897024840	.												T	2	4	7	19305363	19305363	A	T	1	0	0	0	0	0	0	0	1	4239	204	8	4		4	DENND4C	9	19305363	Silent	SNP	A	C3L-00080_TP	800501	19305363	119089354	396	2607											
TOPORS	0	.	GRCh38	chr9	32541934	32541934	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactatctctacacttaggCtccgggtcttcctttttctc	7	16	5	13	1	3	0	0	0	3	0	7	0	5	0	2	2	2	1	2	2	4	6			C3L-00080_TP	C3L-00080_NB	C	C																c.2591G>T	p.Ser864Ile	p.S864I	ENST00000360538	3/3	107	81	26	190	190	0	strelka-varscan-mutect	TOPORS,missense_variant,p.Ser864Ile,ENST00000360538,NM_005802.4;TOPORS,missense_variant,p.Ser799Ile,ENST00000379858,NM_001195622.1;	A	ENST00000360538	Transcript	missense_variant	2708/4098	2591/3138	864/1045	S/I	aGc/aTc	COSM3996510	1		-1	TOPORS	HGNC	HGNC:21653	protein_coding	YES	CCDS6527.1	ENSP00000353735	Q9NS56		UPI000006F223	NM_005802.4	deleterious(0)		3/3		hmmpanther:PTHR22937:SF61,hmmpanther:PTHR22937											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	7	32541934	32541934	C	A	1	0	0	0	0	1	0	0	0	16847	797	28	2		2	TOPORS	9	32541934	Missense_Mutation	SNP	C	C3L-00080_TP	13236571	32541934	105852783	397	2608											
TAF1L	0	.	GRCh38	chr9	32631534	32631534	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacctcatgcacattctcaAttagctgtttcccgaagaca	12	11	6	12	1	2	1	2	0	1	1	4	3	3	1	2	0	3	3	2	0	4	3	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.4046T>G	p.Ile1349Ser	p.I1349S	ENST00000242310	1/1	431	337	94	479	479	0	strelka-varscan-mutect	TAF1L,missense_variant,p.Ile1349Ser,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;	C	ENST00000242310	Transcript	missense_variant	4136/6216	4046/5481	1349/1826	I/S	aTt/aGt		1		-1	TAF1L	HGNC	HGNC:18056	protein_coding	YES	CCDS35003.1	ENSP00000418379	Q8IZX4		UPI000007408A	NM_153809.2	deleterious(0)		1/1		PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0																	MODERATE		SNV				1										PASS		.	.												C	3	2	7	32631534	32631534	A	C	1	0	0	0	0	1	0	0	0	15919	101	4	5		5	TAF1L	9	32631534	Missense_Mutation	SNP	A	C3L-00080_TP	89600	32631534	105763183	398	2609											
TAF1L	0	.	GRCh38	chr9	32634008	32634008	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaatgaggttctcatcAttgggatcaagtgccaaaac	14	10	8	9	0	3	1	3	1	1	0	5	2	4	2	2	2	2	1	2	2	5	2	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.1572T>A	p.Asn524Lys	p.N524K	ENST00000242310	1/1	235	180	55	262	262	0	strelka-varscan-mutect	TAF1L,missense_variant,p.Asn524Lys,ENST00000242310,NM_153809.2;RP11-555J4.4,non_coding_transcript_exon_variant,,ENST00000430787,;	T	ENST00000242310	Transcript	missense_variant	1662/6216	1572/5481	524/1826	N/K	aaT/aaA		1		-1	TAF1L	HGNC	HGNC:18056	protein_coding	YES	CCDS35003.1	ENSP00000418379	Q8IZX4		UPI000007408A	NM_153809.2	deleterious(0)		1/1		PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0																	MODERATE		SNV				1										PASS		.	.												T	3	4	7	32634008	32634008	A	T	1	0	0	0	0	1	0	0	0	15919	214	8	4		4	TAF1L	9	32634008	Missense_Mutation	SNP	A	C3L-00080_TP	2474	32634008	105760709	399	2610											
GLIPR2	0	.	GRCh38	chr9	36162431	36162431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaggcgtccgcaagtgacgGgtcctcctttgtggtggcca	6	9	15	11	3	0	1	0	1	0	0	3	2	3	1	4	4	0	1	4	4	2	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.374G>T	p.Gly125Val	p.G125V	ENST00000377960	5/5	181	139	42	193	193	0	strelka-varscan-mutect	GLIPR2,missense_variant,p.Gly125Val,ENST00000377960,NM_001287013.1,NM_022343.3,NM_001287011.1;GLIPR2,missense_variant,p.Gly43Val,ENST00000619700,NM_001287014.1;GLIPR2,missense_variant,p.Gly99Val,ENST00000377959,NM_001287010.1;GLIPR2,3_prime_UTR_variant,,ENST00000396613,NM_001287012.1;GLIPR2,non_coding_transcript_exon_variant,,ENST00000474050,;	T	ENST00000377960	Transcript	missense_variant	408/1890	374/465	125/154	G/V	gGg/gTg		1		1	GLIPR2	HGNC	HGNC:18007	protein_coding	YES	CCDS6598.1	ENSP00000367196	Q9H4G4		UPI000006DF50	NM_001287013.1,NM_022343.3,NM_001287011.1	deleterious(0)		5/5		Gene3D:3.40.33.10,Pfam_domain:PF00188,hmmpanther:PTHR10334,SMART_domains:SM00198,Superfamily_domains:SSF55797																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	36162431	36162431	G	T	1	0	0	0	0	1	0	0	0	6322	1232	43	2		2	GLIPR2	9	36162431	Missense_Mutation	SNP	G	C3L-00080_TP	3528423	36162431	102232286	400	2611											
FBXO10	0	.	GRCh38	chr9	37518330	37518330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgctgttgttggccactCgggtgggttggctgctctgg	3	13	17	8	1	1	1	0	0	1	1	2	1	1	1	1	5	2	6	1	5	0	3	rs778381633		C3L-00080_TP	C3L-00080_NB	C	C																c.2309G>T	p.Arg770Leu	p.R770L	ENST00000432825	9/11	228	180	48	260	260	0	strelka-varscan-mutect	FBXO10,missense_variant,p.Arg770Leu,ENST00000432825,NM_012166.2;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000544475,;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000541804,;FBXO10,downstream_gene_variant,,ENST00000543968,;FBXO10,downstream_gene_variant,,ENST00000544208,;FBXO10,3_prime_UTR_variant,,ENST00000276960,;	A	ENST00000432825	Transcript	missense_variant	2358/4575	2309/2871	770/956	R/L	cGa/cTa	rs778381633,COSM5075040	1		-1	FBXO10	HGNC	HGNC:13589	protein_coding	YES	CCDS47966.1	ENSP00000403802	Q9UK96		UPI00001C1EC6	NM_012166.2	tolerated(0.16)		9/11		hmmpanther:PTHR22990:SF19,hmmpanther:PTHR22990,Pfam_domain:PF05048,Gene3D:2.160.20.10,SMART_domains:SM00722,SMART_domains:SM00710,Superfamily_domains:SSF51126											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs778381633	.												A	3	1	7	37518330	37518330	C	A	1	0	0	0	0	1	0	0	0	5589	884	31	1		1	FBXO10	9	37518330	Missense_Mutation	SNP	C	C3L-00080_TP	1355899	37518330	100876387	401	2612											
SPATA31A1	0	.	GRCh38	chr9	39359172	39359172	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccccactgcttttccaggcCcagcccccgtcccatctggg	4	9	8	20	1	1	0	0	0	1	0	4	0	4	0	7	2	2	1	7	2	0	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1449C>A	p.=	p.A483A	ENST00000377647	4/4	659	509	150	878	876	2	strelka-varscan-mutect	SPATA31A1,synonymous_variant,p.=,ENST00000377647,NM_001085452.2;RP11-347J14.4,downstream_gene_variant,,ENST00000615174,;SPATA31A1,downstream_gene_variant,,ENST00000473440,;	A	ENST00000377647	Transcript	synonymous_variant	1469/4256	1449/4086	483/1361	A	gcC/gcA		1		1	SPATA31A1	HGNC	HGNC:23394	protein_coding	YES	CCDS43808.2	ENSP00000366875		A0A0R4J2F1	UPI0001AE6DFD	NM_001085452.2			4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18,Pfam_domain:PF14650																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	39359172	39359172	C	A	1	0	0	0	0	0	0	0	1	15343	610	22	2		2	SPATA31A1	9	39359172	Silent	SNP	C	C3L-00080_TP	1840842	39359172	99035545	402	2613											
TRPM3	0	.	GRCh38	chr9	71121214	71121214	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatggaagaaaggctgcgtgGcacagcttccggatggtcca	10	7	15	9	2	0	1	0	0	0	1	2	4	2	3	2	5	2	3	2	5	2	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.141C>T	p.=	p.C47C	ENST00000377110	1/25	130	92	38	113	113	0	strelka-varscan-mutect	TRPM3,synonymous_variant,p.=,ENST00000377110,NM_001007471.2;TRPM3,synonymous_variant,p.=,ENST00000377111,;TRPM3,intron_variant,,ENST00000357533,;TRPM3,intron_variant,,ENST00000354500,;	A	ENST00000377110	Transcript	synonymous_variant	385/12258	141/5124	47/1707	C	tgC/tgT		1		-1	TRPM3	HGNC	HGNC:17992	protein_coding	YES	CCDS43835.1	ENSP00000366314	Q9HCF6		UPI0001596895	NM_001007471.2			1/25		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	71121214	71121214	G	A	1	0	0	0	0	0	0	0	1	17093	1195	42	3		3	TRPM3	9	71121214	Silent	SNP	G	C3L-00080_TP	31762042	71121214	67273503	403	2614											
PRUNE2	0	.	GRCh38	chr9	76705573	76705573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggtgagttacaaaaatgCtagttgccacattttcaatc	12	14	7	8	0	1	1	1	1	0	0	2	1	1	1	1	1	3	3	1	1	5	6	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.6701G>T	p.Ser2234Ile	p.S2234I	ENST00000376718	8/19	162	118	44	195	195	0	strelka-varscan-mutect	PRUNE2,missense_variant,p.Ser2234Ile,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Ser1875Ile,ENST00000428286,;PRUNE2,missense_variant,p.Ser2234Ile,ENST00000443509,NM_001308047.1,NM_001308048.1;PRUNE2,missense_variant,p.Ser1556Ile,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	A	ENST00000376718	Transcript	missense_variant	6825/12584	6701/9267	2234/3088	S/I	aGc/aTc		1		-1	PRUNE2	HGNC	HGNC:25209	protein_coding	YES	CCDS47982.1	ENSP00000365908	Q8WUY3		UPI0001612CC0	NM_015225.2	deleterious(0.05)		8/19		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112																	MODERATE	1	SNV	5			1										PASS		rs887129397	.												A	3	1	7	76705573	76705573	C	A	1	0	0	0	0	1	0	0	0	12791	797	28	2		2	PRUNE2	9	76705573	Missense_Mutation	SNP	C	C3L-00080_TP	5584359	76705573	61689144	404	2615											
SPATA31D1	0	.	GRCh38	chr9	81993013	81993013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caatgagggtcgaatgcctgGgactgtgcatagttcatggc	9	10	14	8	1	1	1	1	1	0	0	2	3	1	2	1	3	2	2	1	3	3	2	rs759725073		C3L-00080_TP	C3L-00080_NB	G	G																c.2543G>T	p.Gly848Val	p.G848V	ENST00000344803	4/4	426	343	83	415	413	2	strelka-varscan-mutect	SPATA31D1,missense_variant,p.Gly848Val,ENST00000344803,NM_001001670.2;RP11-15B24.5,intron_variant,,ENST00000637606,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	T	ENST00000344803	Transcript	missense_variant	2590/4833	2543/4731	848/1576	G/V	gGg/gTg	rs759725073	1		1	SPATA31D1	HGNC	HGNC:37283	protein_coding	YES	CCDS47986.1	ENSP00000341988	Q6ZQQ2		UPI00001C10A6	NM_001001670.2	tolerated(0.54)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF12,Pfam_domain:PF14650																	MODERATE	1	SNV	2			1										PASS		rs759725073	.												T	3	4	7	81993013	81993013	G	T	1	0	0	0	0	1	0	0	0	15347	1232	43	2		2	SPATA31D1	9	81993013	Missense_Mutation	SNP	G	C3L-00080_TP	5287440	81993013	56401704	405	2616											
SPATA31D1	0	.	GRCh38	chr9	81993774	81993774	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatcgtagacgaagtcagtCagaaacagactgtactggcc	13	7	11	10	2	2	3	2	0	0	3	3	4	2	3	1	1	2	3	1	1	4	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.3304C>T	p.Gln1102Ter	p.Q1102*	ENST00000344803	4/4	107	86	21	140	140	0	strelka-varscan-mutect	SPATA31D1,stop_gained,p.Gln1102Ter,ENST00000344803,NM_001001670.2;RP11-15B24.5,intron_variant,,ENST00000637606,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	T	ENST00000344803	Transcript	stop_gained	3351/4833	3304/4731	1102/1576	Q/*	Cag/Tag		1		1	SPATA31D1	HGNC	HGNC:37283	protein_coding	YES	CCDS47986.1	ENSP00000341988	Q6ZQQ2		UPI00001C10A6	NM_001001670.2			4/4		hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	7	81993774	81993774	C	T	1	0	0	0	0	0	1	0	0	15347	827	29	3		3	SPATA31D1	9	81993774	Nonsense_Mutation	SNP	C	C3L-00080_TP	761	81993774	56400943	406	2617											
PTCH1	0	.	GRCh38	chr9	95459694	95459694	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggaggcagcatacgcgacGgggtcgttgctgacccaagc	8	6	16	11	4	0	1	0	1	0	0	1	3	0	2	1	4	4	4	1	4	2	2			C3L-00080_TP	C3L-00080_NB	G	G																c.2793C>T	p.=	p.P931P	ENST00000331920	17/24	294	225	69	350	350	0	strelka-varscan-mutect	PTCH1,synonymous_variant,p.=,ENST00000430669,;PTCH1,synonymous_variant,p.=,ENST00000331920,NM_000264.3;PTCH1,synonymous_variant,p.=,ENST00000437951,NM_001083602.1;PTCH1,synonymous_variant,p.=,ENST00000418258,NM_001083607.1;PTCH1,synonymous_variant,p.=,ENST00000421141,NM_001083604.1,NM_001083605.1;PTCH1,synonymous_variant,p.=,ENST00000429896,NM_001083606.1;PTCH1,synonymous_variant,p.=,ENST00000375274,NM_001083603.1;PTCH1,non_coding_transcript_exon_variant,,ENST00000547615,;PTCH1,3_prime_UTR_variant,,ENST00000375290,;	A	ENST00000331920	Transcript	synonymous_variant	3093/8057	2793/4344	931/1447	P	ccC/ccT	COSM327215,COSM327216,COSM327217,COSM327218	1		-1	PTCH1	HGNC	HGNC:9585	protein_coding	YES	CCDS6714.1	ENSP00000332353	Q13635		UPI00001AFF9C	NM_000264.3			17/24		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF61,TIGRFAM_domain:TIGR00918											1,1,1,1						LOW	1	SNV	5		1,1,1,1	1										PASS		rs1162747889	.												A	2	1	7	95459694	95459694	G	A	1	0	0	0	0	0	0	0	1	12883	1103	39	1		1	PTCH1	9	95459694	Silent	SNP	G	C3L-00080_TP	13465920	95459694	42935023	407	2618											
OR13C4	0	.	GRCh38	chr9	104526772	104526772	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagaaagccatgatacAgaagtcagcagtacatacac	17	5	7	12	0	1	3	1	1	0	2	1	3	1	3	3	0	5	2	3	0	5	3	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.438T>C	p.=	p.S146S	ENST00000277216	1/1	155	119	36	139	139	0	strelka-varscan-mutect	OR13C4,synonymous_variant,p.=,ENST00000277216,NM_001001919.1;RP11-317C20.9,intron_variant,,ENST00000635678,;	G	ENST00000277216	Transcript	synonymous_variant	438/957	438/957	146/318	S	tcT/tcC		1		-1	OR13C4	HGNC	HGNC:14722	protein_coding	YES	CCDS35088.1	ENSP00000277216	Q8NGS5	A0A126GVC9	UPI0000041B46	NM_001001919.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF14,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW		SNV				1										PASS		.	.												G	2	3	7	104526772	104526772	A	G	1	0	0	0	0	0	0	0	1	11012	175	7	5		5	OR13C4	9	104526772	Silent	SNP	A	C3L-00080_TP	9067078	104526772	33867945	408	2619											
KIAA1958	0	.	GRCh38	chr9	112659493	112659493	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaggcatgtcgggcgcGcgttctcgcaacatcgtcta	8	8	13	12	6	2	0	0	0	2	0	5	0	2	0	0	3	1	4	0	3	3	2	rs752839862		C3L-00080_TP	C3L-00080_NB	G	G																c.1659G>T	p.=	p.A553A	ENST00000536272	5/5	216	168	48	301	301	0	strelka-varscan-mutect	KIAA1958,synonymous_variant,p.=,ENST00000337530,NM_133465.3;KIAA1958,synonymous_variant,p.=,ENST00000536272,NM_001287036.1;	T	ENST00000536272	Transcript	synonymous_variant	1834/7650	1659/2235	553/744	A	gcG/gcT	rs752839862	1		1	KIAA1958	HGNC	HGNC:23427	protein_coding	YES	CCDS69642.1	ENSP00000440504	Q8N8K9		UPI000189A74D	NM_001287036.1			5/5		hmmpanther:PTHR11697:SF95,hmmpanther:PTHR11697																	LOW	1	SNV	1			1										PASS		rs752839862	.												T	2	4	7	112659493	112659493	G	T	1	0	0	0	0	0	0	0	1	8130	1074	38	1		1	KIAA1958	9	112659493	Silent	SNP	G	C3L-00080_TP	8132721	112659493	25735224	409	2620											
RGS3	0	.	GRCh38	chr9	113506453	113506453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctgaatgagaggcctGtggagcactggaaatgtgtg	10	9	16	6	0	0	2	0	2	0	1	0	5	0	4	1	3	3	3	1	3	2	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1045G>T	p.Val349Leu	p.V349L	ENST00000374140	13/26	188	149	39	203	202	1	strelka-varscan-mutect	RGS3,missense_variant,p.Val349Leu,ENST00000374140,NM_144488.5;RGS3,missense_variant,p.Val349Leu,ENST00000350696,NM_001282923.1;RGS3,missense_variant,p.Val68Leu,ENST00000343817,NM_130795.3;RGS3,missense_variant,p.Val68Leu,ENST00000394646,NM_001276261.1;RGS3,missense_variant,p.Val237Leu,ENST00000317613,NM_017790.4;RGS3,5_prime_UTR_variant,,ENST00000374136,NM_001322214.1;RGS3,non_coding_transcript_exon_variant,,ENST00000464306,;RGS3,non_coding_transcript_exon_variant,,ENST00000466314,;RGS3,non_coding_transcript_exon_variant,,ENST00000478599,;	T	ENST00000374140	Transcript	missense_variant	1254/4591	1045/3597	349/1198	V/L	Gtg/Ttg		1		1	RGS3	HGNC	HGNC:9999	protein_coding	YES	CCDS43869.1	ENSP00000363255	P49796		UPI00001C0F58	NM_144488.5	deleterious(0)		13/26		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	7	113506453	113506453	G	T	1	0	0	0	0	1	0	0	0	13477	1377	48	2		2	RGS3	9	113506453	Missense_Mutation	SNP	G	C3L-00080_TP	846960	113506453	24888264	410	2621											
ASTN2	0	.	GRCh38	chr9	117096090	117096090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctccgtgtagaatgtcagCtgagtttcatcgtctgcctc	6	14	10	11	2	3	2	2	1	1	1	6	2	4	2	2	0	3	4	2	0	2	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1077G>C	p.Gln359His	p.Q359H	ENST00000361209	4/22	174	132	42	206	206	0	strelka-varscan-mutect	ASTN2,missense_variant,p.Gln410His,ENST00000313400,;ASTN2,missense_variant,p.Gln359His,ENST00000361209,NM_014010.4;ASTN2,missense_variant,p.Gln137His,ENST00000373986,;ASTN2,5_prime_UTR_variant,,ENST00000361477,NM_198187.3;	G	ENST00000361209	Transcript	missense_variant	1209/4622	1077/3867	359/1288	Q/H	caG/caC		1		-1	ASTN2	HGNC	HGNC:17021	protein_coding	YES	CCDS6815.1	ENSP00000354504	O75129		UPI00002116D7	NM_014010.4	tolerated_low_confidence(0.05)		4/22		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	117096090	117096090	C	G	1	0	0	0	0	1	0	0	0	1212	796	28	4		4	ASTN2	9	117096090	Missense_Mutation	SNP	C	C3L-00080_TP	3589637	117096090	21298627	411	2622											
ASTN2	0	.	GRCh38	chr9	117214566	117214566	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggtttgcagccgggatgaAcggaagctctcccgcgcctg	6	8	15	12	4	1	1	0	1	1	0	2	3	1	3	3	3	4	3	3	3	2	1	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.807T>A	p.=	p.R269R	ENST00000361209	3/22	88	61	27	76	76	0	strelka-varscan-mutect	ASTN2,synonymous_variant,p.=,ENST00000313400,;ASTN2,synonymous_variant,p.=,ENST00000361209,NM_014010.4;ASTN2,5_prime_UTR_variant,,ENST00000361477,NM_198187.3;ASTN2,upstream_gene_variant,,ENST00000373986,;	T	ENST00000361209	Transcript	synonymous_variant	939/4622	807/3867	269/1288	R	cgT/cgA		1		-1	ASTN2	HGNC	HGNC:17021	protein_coding	YES	CCDS6815.1	ENSP00000354504	O75129		UPI00002116D7	NM_014010.4			3/22		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	117214566	117214566	A	T	1	0	0	0	0	0	0	0	1	1212	30	2	4		4	ASTN2	9	117214566	Silent	SNP	A	C3L-00080_TP	118476	117214566	21180151	412	2623											
ASTN2	0	.	GRCh38	chr9	117414673	117414673	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccggtcccagccccggccCcggcgcgggcgccgctccag	2	2	14	23	7	0	0	0	0	0	0	2	0	2	0	9	4	1	1	9	4	0	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.266G>T	p.Gly89Val	p.G89V	ENST00000361209	1/22	34	26	8	16	16	0	strelka-varscan-mutect	ASTN2,missense_variant,p.Gly89Val,ENST00000313400,;ASTN2,missense_variant,p.Gly89Val,ENST00000361209,NM_014010.4;ASTN2,5_prime_UTR_variant,,ENST00000361477,NM_198187.3;	A	ENST00000361209	Transcript	missense_variant	398/4622	266/3867	89/1288	G/V	gGg/gTg		1		-1	ASTN2	HGNC	HGNC:17021	protein_coding	YES	CCDS6815.1	ENSP00000354504	O75129		UPI00002116D7	NM_014010.4	deleterious_low_confidence(0)		1/22		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs917011968	.												A	3	1	7	117414673	117414673	C	A	1	0	0	0	0	1	0	0	0	1212	623	22	2		2	ASTN2	9	117414673	Missense_Mutation	SNP	C	C3L-00080_TP	200107	117414673	20980044	413	2624											
TLR4	0	.	GRCh38	chr9	117712966	117712966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaatctgctctagagggcCtgtgcaatttgaccattgaa	12	11	9	9	0	2	3	0	2	2	1	2	3	2	3	2	1	2	2	2	1	4	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.838C>A	p.Leu280Met	p.L280M	ENST00000355622	3/3	201	167	34	271	270	1	strelka-varscan-mutect	TLR4,missense_variant,p.Leu280Met,ENST00000355622,NM_138554.4;TLR4,missense_variant,p.Leu240Met,ENST00000394487,NM_003266.3;RNU6-1082P,upstream_gene_variant,,ENST00000364574,;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,downstream_gene_variant,,ENST00000490685,;	A	ENST00000355622	Transcript	missense_variant	939/4844	838/2520	280/839	L/M	Ctg/Atg		1		1	TLR4	HGNC	HGNC:11850	protein_coding	YES	CCDS6818.1	ENSP00000363089	O00206		UPI0000137057	NM_138554.4	deleterious(0)		3/3		hmmpanther:PTHR24365:SF230,hmmpanther:PTHR24365,Gene3D:3.80.10.10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	117712966	117712966	C	A	1	0	0	0	0	1	0	0	0	16399	680	24	2		2	TLR4	9	117712966	Missense_Mutation	SNP	C	C3L-00080_TP	298293	117712966	20681751	414	2625											
DENND1A	0	.	GRCh38	chr9	123630432	123630432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtacacgtgctgccagtaCatggggtagagcatcgccgc	9	8	13	11	3	0	1	0	0	0	1	1	1	0	1	2	2	5	5	2	2	3	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.663G>T	p.Met221Ile	p.M221I	ENST00000373624	10/22	129	104	25	194	194	0	strelka-varscan-mutect	DENND1A,missense_variant,p.Met221Ile,ENST00000373624,NM_020946.1;DENND1A,missense_variant,p.Met221Ile,ENST00000373620,NM_024820.2;DENND1A,missense_variant,p.Met189Ile,ENST00000373618,;DENND1A,missense_variant,p.Met121Ile,ENST00000394215,;DENND1A,non_coding_transcript_exon_variant,,ENST00000473039,;DENND1A,non_coding_transcript_exon_variant,,ENST00000474676,;DENND1A,non_coding_transcript_exon_variant,,ENST00000475615,;	A	ENST00000373624	Transcript	missense_variant	865/5010	663/3030	221/1009	M/I	atG/atT		1		-1	DENND1A	HGNC	HGNC:29324	protein_coding	YES	CCDS35133.1	ENSP00000362727	Q8TEH3		UPI00004589D2	NM_020946.1	deleterious(0)		10/22		Pfam_domain:PF02141,PROSITE_profiles:PS50211,hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF22,SMART_domains:SM00799																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	7	123630432	123630432	C	A	1	0	0	0	0	1	0	0	0	4230	478	17	2		2	DENND1A	9	123630432	Missense_Mutation	SNP	C	C3L-00080_TP	5917466	123630432	14764285	415	2626											
LMX1B	0	.	GRCh38	chr9	126695959	126695959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcgaccccttccagcaggGcctcacgccgccccaaatgc	8	4	9	20	3	1	0	1	0	0	0	2	1	2	0	7	1	3	1	7	1	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1040G>T	p.Gly347Val	p.G347V	ENST00000355497	7/8	67	50	17	72	72	0	strelka-varscan-mutect	LMX1B,missense_variant,p.Gly347Val,ENST00000355497,NM_001174146.1;LMX1B,missense_variant,p.Gly336Val,ENST00000373474,NM_001174147.1;LMX1B,missense_variant,p.Gly324Val,ENST00000561065,;LMX1B,missense_variant,p.Gly336Val,ENST00000526117,NM_002316.3;	T	ENST00000355497	Transcript	missense_variant	1047/5809	1040/1221	347/406	G/V	gGc/gTc		1		1	LMX1B	HGNC	HGNC:6654	protein_coding	YES	CCDS55343.1	ENSP00000347684	O60663		UPI0001CE94D0	NM_001174146.1	deleterious(0)		7/8		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF96																	MODERATE	1	SNV	1			1										PASS		rs1015245215	.												T	3	4	7	126695959	126695959	G	T	1	0	0	0	0	1	0	0	0	8789	1203	42	2		2	LMX1B	9	126695959	Missense_Mutation	SNP	G	C3L-00080_TP	3065527	126695959	11698758	416	2627											
ADAMTS13	0	.	GRCh38	chr9	133424472	133424472	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatgtgctcaccaacctCaacatcgtgagtgccccacg	9	8	8	16	3	2	1	2	1	0	0	3	1	2	1	4	0	4	2	4	0	3	1			C3L-00080_TP	C3L-00080_NB	C	C																c.324C>A	p.=	p.L108L	ENST00000371929	3/29	329	257	72	345	345	0	strelka-varscan-mutect	ADAMTS13,synonymous_variant,p.=,ENST00000371929,NM_139025.4;ADAMTS13,synonymous_variant,p.=,ENST00000355699,NM_139027.4;ADAMTS13,synonymous_variant,p.=,ENST00000356589,NM_139026.4;ADAMTS13,synonymous_variant,p.=,ENST00000371911,;ADAMTS13,5_prime_UTR_variant,,ENST00000371916,;ADAMTS13,non_coding_transcript_exon_variant,,ENST00000485925,;ADAMTS13,synonymous_variant,p.=,ENST00000495234,;ADAMTS13,synonymous_variant,p.=,ENST00000474918,;	A	ENST00000371929	Transcript	synonymous_variant	768/4934	324/4284	108/1427	L	ctC/ctA	COSM384862,COSM5217763,COSM5217764	1		1	ADAMTS13	HGNC	HGNC:1366	protein_coding	YES	CCDS6970.1	ENSP00000360997	Q76LX8		UPI0000000DAD	NM_139025.4			3/29		PROSITE_profiles:PS50215,hmmpanther:PTHR13723:SF20,hmmpanther:PTHR13723,Gene3D:3.40.390.10,Superfamily_domains:SSF55486											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												A	2	1	7	133424472	133424472	C	A	1	0	0	0	0	0	0	0	1	302	813	29	2		2	ADAMTS13	9	133424472	Silent	SNP	C	C3L-00080_TP	6728513	133424472	4970245	417	2628											
PMPCA	0	.	GRCh38	chr9	136412864	136412864	+	Frame_Shift_Del	DEL	G	G	-																															tgcttacgttggaaaagcatGggggtatctgtgactgccag																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.413delG	p.Gly138ValfsTer39	p.G138Vfs*39	ENST00000371717	4/13	151	125	26	210	210	0	sindel-varindel-pindel	PMPCA,frameshift_variant,p.Gly138ValfsTer39,ENST00000371717,NM_015160.2;PMPCA,frameshift_variant,p.Val39TyrfsTer3,ENST00000399219,NM_001282946.1,NM_001282944.1;PMPCA,upstream_gene_variant,,ENST00000444897,;SDCCAG3,upstream_gene_variant,,ENST00000298537,NM_006643.3;SDCCAG3,upstream_gene_variant,,ENST00000357365,NM_001039707.1;SDCCAG3,upstream_gene_variant,,ENST00000371725,NM_001039708.1;SDCCAG3,upstream_gene_variant,,ENST00000371723,;SDCCAG3,upstream_gene_variant,,ENST00000446833,;PMPCA,non_coding_transcript_exon_variant,,ENST00000610649,;SDCCAG3,upstream_gene_variant,,ENST00000468963,;PMPCA,non_coding_transcript_exon_variant,,ENST00000612553,;PMPCA,non_coding_transcript_exon_variant,,ENST00000371720,;PMPCA,non_coding_transcript_exon_variant,,ENST00000620895,;PMPCA,non_coding_transcript_exon_variant,,ENST00000614402,;PMPCA,intron_variant,,ENST00000622209,;PMPCA,upstream_gene_variant,,ENST00000462616,;PMPCA,downstream_gene_variant,,ENST00000620412,;PMPCA,downstream_gene_variant,,ENST00000619192,;	-	ENST00000371717	Transcript	frameshift_variant	508/2174	409/1578	137/525	G/X	Ggg/gg		1		1	PMPCA	HGNC	HGNC:18667	protein_coding	YES	CCDS35180.1	ENSP00000360782	Q10713		UPI00000703D3	NM_015160.2			4/13		Gene3D:3.30.830.10,Pfam_domain:PF00675,hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF49,Superfamily_domains:SSF63411																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	7	136412864	136412864	G	-	1	0	1	0	1	0	0	0	0	12247	1348	47	0		0	PMPCA	9	136412864	Frame_Shift_Del	DEL	G	C3L-00080_TP	2988392	136412864	1981853	418	2629											
CLIC3	0	.	GRCh38	chr9	136995272	136995272	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtgttggactccctgtaaCgaggcgccaggctggggaag	7	7	17	10	3	0	0	0	0	0	0	1	3	1	2	2	6	1	3	2	6	2	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.290G>T	p.Arg97Leu	p.R97L	ENST00000494426	4/6	209	172	37	245	244	1	strelka-varscan-mutect	CLIC3,missense_variant,p.Arg97Leu,ENST00000494426,NM_004669.2;C9orf142,downstream_gene_variant,,ENST00000371620,NM_183241.1;CLIC3,non_coding_transcript_exon_variant,,ENST00000480181,;CLIC3,non_coding_transcript_exon_variant,,ENST00000473911,;C9orf142,downstream_gene_variant,,ENST00000498095,;C9orf142,downstream_gene_variant,,ENST00000493968,;C9orf142,downstream_gene_variant,,ENST00000481187,;C9orf142,downstream_gene_variant,,ENST00000467845,;C9orf142,downstream_gene_variant,,ENST00000483807,;C9orf142,downstream_gene_variant,,ENST00000492564,;C9orf142,downstream_gene_variant,,ENST00000463765,;	A	ENST00000494426	Transcript	missense_variant	550/1017	290/711	97/236	R/L	cGt/cTt		1		-1	CLIC3	HGNC	HGNC:2064	protein_coding	YES	CCDS7021.1	ENSP00000419378	O95833		UPI00001AE551	NM_004669.2	tolerated(0.34)		4/6		PROSITE_profiles:PS50405,hmmpanther:PTHR11260:SF266,hmmpanther:PTHR11260,Superfamily_domains:SSF47616																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	136995272	136995272	C	A	1	0	0	0	0	1	0	0	0	3296	536	19	1		1	CLIC3	9	136995272	Missense_Mutation	SNP	C	C3L-00080_TP	582408	136995272	1399445	419	2630											
PRR26	0	.	GRCh38	chr10	650396	650396	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccacggcagccacacgccCcagaccaacacgagaagaac	14	0	9	18	3	0	3	0	0	0	3	0	4	0	3	5	1	3	1	5	1	3	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.174C>A	p.=	p.P58P	ENST00000441152	2/3	316	211	105	304	303	1	strelka-varscan-mutect	PRR26,missense_variant,p.Pro96Thr,ENST00000381489,;PRR26,synonymous_variant,p.=,ENST00000441152,;DIP2C,intron_variant,,ENST00000280886,NM_014974.2;DIP2C,intron_variant,,ENST00000634311,;	A	ENST00000441152	Transcript	synonymous_variant	337/2251	174/666	58/221	P	ccC/ccA		1		1	PRR26	HGNC	HGNC:30724	protein_coding	YES		ENSP00000414034	Q8N8Z3		UPI000006F105				2/3																			LOW		SNV	2			1										PASS		.	.												A	2	1	7	650396	650396	C	A	1	0	0	0	0	0	0	0	1	12733	623	22	2		2	PRR26	10	650396	Silent	SNP	C	C3L-00080_TP		650396	133147026	420	2631											
UPF2	0	.	GRCh38	chr10	11956523	11956523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctttcgcatctgtctcaaaaCctaaaaaaagagaattttgt	15	13	5	8	1	2	1	1	0	2	1	4	2	2	1	1	0	1	1	1	0	7	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2371G>A	p.Val791Ile	p.V791I	ENST00000356352	12/21	217	146	71	226	224	2	strelka-varscan-mutect	UPF2,missense_variant,p.Val791Ile,ENST00000356352,;UPF2,missense_variant,p.Val791Ile,ENST00000397053,NM_080599.2;UPF2,missense_variant,p.Val791Ile,ENST00000357604,NM_015542.3;	T	ENST00000356352	Transcript	missense_variant,splice_region_variant	2845/5569	2371/3819	791/1272	V/I	Gtt/Att		1		-1	UPF2	HGNC	HGNC:17854	protein_coding	YES	CCDS7086.1	ENSP00000348708	Q9HAU5		UPI0000070D5E		tolerated(0.4)		12/21		Gene3D:1.25.40.180,Pfam_domain:PF02854,hmmpanther:PTHR12839,SMART_domains:SM00543,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	11956523	11956523	C	T	1	0	0	0	0	1	0	0	0	17530	521	18	3		3	UPF2	10	11956523	Missense_Mutation	SNP	C	C3L-00080_TP	11306127	11956523	121840899	421	2632											
MCM10	0	.	GRCh38	chr10	13183098	13183098	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcccaaggatggttcagagGaggtaagagcctgtttctgg	10	9	15	7	0	2	2	1	0	1	2	2	4	2	4	2	5	2	3	2	5	2	3	rs376624218		C3L-00080_TP	C3L-00080_NB	G	G																c.1099G>T	p.Glu367Ter	p.E367*	ENST00000484800	8/20	138	107	31	111	111	0	strelka-varscan-mutect	MCM10,stop_gained,p.Glu366Ter,ENST00000378694,;MCM10,stop_gained,p.Glu366Ter,ENST00000378714,NM_018518.4;MCM10,stop_gained,p.Glu367Ter,ENST00000484800,NM_182751.2;	T	ENST00000484800	Transcript	stop_gained,splice_region_variant	1202/3157	1099/2628	367/875	E/*	Gag/Tag	rs376624218	1		1	MCM10	HGNC	HGNC:18043	protein_coding	YES	CCDS7096.1	ENSP00000418268	Q7L590		UPI000013C5E2	NM_182751.2			8/20		hmmpanther:PTHR13454																	HIGH	1	SNV	1			1										PASS		rs376624218	.												T	4	4	7	13183098	13183098	G	T	1	0	0	0	0	0	1	0	0	9317	1188	41	2		2	MCM10	10	13183098	Nonsense_Mutation	SNP	G	C3L-00080_TP	1226575	13183098	120614324	422	2633											
RSU1	0	.	GRCh38	chr10	16593474	16593474	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcggtggttctgggttggCctgcatgtgtctgccgtaga	3	14	15	9	2	2	1	0	0	2	1	3	1	2	1	2	4	2	4	2	4	1	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.754G>T	p.Ala252Ser	p.A252S	ENST00000377921	8/8	315	227	88	251	251	0	strelka-varscan-mutect	RSU1,missense_variant,p.Ala252Ser,ENST00000377921,;RSU1,missense_variant,p.Ala252Ser,ENST00000345264,NM_012425.3;RSU1,missense_variant,p.Ala199Ser,ENST00000602389,NM_152724.2;RSU1,non_coding_transcript_exon_variant,,ENST00000464074,;RSU1,non_coding_transcript_exon_variant,,ENST00000377911,;	A	ENST00000377921	Transcript	missense_variant	1056/3919	754/834	252/277	A/S	Gcc/Tcc		1		-1	RSU1	HGNC	HGNC:10464	protein_coding	YES	CCDS7112.1	ENSP00000367154	Q15404		UPI0000000C72		tolerated(0.16)		8/8																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	16593474	16593474	C	A	1	0	0	0	0	1	0	0	0	13975	739	26	2		2	RSU1	10	16593474	Missense_Mutation	SNP	C	C3L-00080_TP	3410376	16593474	117203948	423	2634											
SPAG6	0	.	GRCh38	chr10	22368548	22368548	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcagttggtaaacattcTccccagctagctcaggcaat	11	9	9	12	1	2	0	1	0	1	0	3	1	2	0	2	2	4	6	2	2	4	4	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.342T>A	p.=	p.S114S	ENST00000376624	4/11	287	206	81	209	209	0	strelka-varscan-mutect	SPAG6,synonymous_variant,p.=,ENST00000376603,NM_001253855.1;SPAG6,synonymous_variant,p.=,ENST00000376624,NM_012443.3;SPAG6,synonymous_variant,p.=,ENST00000313311,NM_172242.2;SPAG6,synonymous_variant,p.=,ENST00000538630,NM_001253854.1;SPAG6,synonymous_variant,p.=,ENST00000435326,;SPAG6,intron_variant,,ENST00000456231,;RP11-301N24.3,intron_variant,,ENST00000422675,;SPAG6,intron_variant,,ENST00000488555,;	A	ENST00000376624	Transcript	synonymous_variant	484/2605	342/1530	114/509	S	tcT/tcA		1		1	SPAG6	HGNC	HGNC:11215	protein_coding	YES	CCDS7139.1	ENSP00000365811	O75602	A0A140VJU9	UPI0000073ED7	NM_012443.3			4/11		hmmpanther:PTHR23314:SF1,hmmpanther:PTHR23314,Pfam_domain:PF00514,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	22368548	22368548	T	A	1	0	0	0	0	0	0	0	1	15313	1538	54	4		4	SPAG6	10	22368548	Silent	SNP	T	C3L-00080_TP	5775074	22368548	111428874	424	2635											
ARMC3	0	.	GRCh38	chr10	23037402	23037402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgctcctgagatgtacGtgattgacctcatgttccat	7	13	8	13	2	1	3	1	3	0	1	4	4	4	3	5	0	1	3	5	0	1	3	rs773656092		C3L-00080_TP	C3L-00080_NB	G	G																c.2542G>T	p.Val848Leu	p.V848L	ENST00000298032	19/19	167	119	48	130	130	0	strelka-varscan-mutect	ARMC3,missense_variant,p.Val585Leu,ENST00000376528,NM_001282747.1;ARMC3,missense_variant,p.Val848Leu,ENST00000298032,NM_173081.4;ARMC3,missense_variant,p.Val841Leu,ENST00000409983,NM_001282745.1;	T	ENST00000298032	Transcript	missense_variant	2626/2811	2542/2619	848/872	V/L	Gtg/Ttg	rs773656092,COSM1245485	1		1	ARMC3	HGNC	HGNC:30964	protein_coding	YES	CCDS7142.1	ENSP00000298032	Q5W041		UPI0000161785	NM_173081.4	deleterious(0.01)		19/19		hmmpanther:PTHR23315:SF78,hmmpanther:PTHR23315,Pfam_domain:PF14381											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs773656092	.												T	3	4	7	23037402	23037402	G	T	1	0	0	0	0	1	0	0	0	1093	1145	40	1		1	ARMC3	10	23037402	Missense_Mutation	SNP	G	C3L-00080_TP	668854	23037402	110760020	425	2636											
PTF1A	0	.	GRCh38	chr10	23192749	23192749	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgctgctgcagcccgcGcccccggccgccccgctagc	2	5	12	22	5	0	0	0	0	0	0	0	0	0	0	7	1	6	4	7	1	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.219G>T	p.=	p.A73A	ENST00000376504	1/2	77	39	38	52	52	0	strelka-mutect	PTF1A,synonymous_variant,p.=,ENST00000376504,NM_178161.2;	T	ENST00000376504	Transcript	synonymous_variant	423/1537	219/987	73/328	A	gcG/gcT		1		1	PTF1A	HGNC	HGNC:23734	protein_coding	YES	CCDS7143.1	ENSP00000365687	Q7RTS3		UPI000018F612	NM_178161.2			1/2		hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF59,Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		rs1038858636	.												T	2	4	7	23192749	23192749	G	T	1	0	0	0	0	0	0	0	1	12893	1074	38	1		1	PTF1A	10	23192749	Silent	SNP	G	C3L-00080_TP	155347	23192749	110604673	426	2637											
THNSL1	0	.	GRCh38	chr10	25024898	25024898	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaaagaaaactagcacaaAccttttcaccgtcaatagat	17	8	7	9	1	2	2	2	0	0	2	2	3	2	3	2	1	3	1	2	1	7	4	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.1675A>T	p.Thr559Ser	p.T559S	ENST00000524413	3/3	113	84	29	140	140	0	strelka-varscan-mutect	THNSL1,missense_variant,p.Thr559Ser,ENST00000524413,;THNSL1,missense_variant,p.Thr559Ser,ENST00000376356,NM_024838.4;ENKUR,intron_variant,,ENST00000615958,NM_001270383.1;	T	ENST00000524413	Transcript	missense_variant	2022/3788	1675/2232	559/743	T/S	Acc/Tcc		1		1	THNSL1	HGNC	HGNC:26160	protein_coding	YES	CCDS7147.1	ENSP00000434887	Q8IYQ7		UPI00001F9045		tolerated(0.52)		3/3		hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF118,TIGRFAM_domain:TIGR00260,Gene3D:3.40.50.1100,Pfam_domain:PF00291,Superfamily_domains:SSF53686																	MODERATE	1	SNV	3			1										PASS		.	.												T	3	4	7	25024898	25024898	A	T	1	0	0	0	0	1	0	0	0	16297	43	2	4		4	THNSL1	10	25024898	Missense_Mutation	SNP	A	C3L-00080_TP	1832149	25024898	108772524	427	2638											
ARMC4	0	.	GRCh38	chr10	27936732	27936732	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagccttctcttacttggtaAcattctctttgctgatggaa	8	16	8	9	0	2	1	0	1	2	0	4	3	2	2	1	2	4	2	1	2	3	6	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.2246T>C	p.Val749Ala	p.V749A	ENST00000305242	15/20	370	311	59	329	329	0	strelka-varscan-mutect	ARMC4,missense_variant,p.Val749Ala,ENST00000305242,NM_018076.3,NM_001290020.1;	G	ENST00000305242	Transcript	missense_variant	2339/3572	2246/3135	749/1044	V/A	gTt/gCt		1		-1	ARMC4	HGNC	HGNC:25583	protein_coding	YES	CCDS7157.1	ENSP00000306410	Q5T2S8	A0A140VKF7	UPI00001A95E1	NM_018076.3,NM_001290020.1	tolerated(0.06)		15/20		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF44,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	7	27936732	27936732	A	G	1	0	0	0	0	1	0	0	0	1094	43	2	5		5	ARMC4	10	27936732	Missense_Mutation	SNP	A	C3L-00080_TP	2911834	27936732	105860690	428	2639											
ARHGAP12	0	.	GRCh38	chr10	31807659	31807659	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggttgtcttcagtaagaatCaacgtccgaagatggaactc	13	10	10	8	2	3	2	2	0	1	2	5	4	4	3	1	2	2	2	1	2	5	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2540G>A	p.=	p.*847*	ENST00000344936	20/20	130	109	21	138	138	0	strelka-varscan-mutect	ARHGAP12,stop_retained_variant,p.=,ENST00000396144,NM_001270695.1;ARHGAP12,stop_retained_variant,p.=,ENST00000375245,NM_001270697.1;ARHGAP12,stop_retained_variant,p.=,ENST00000375250,NM_001270696.1,NM_001270698.1;ARHGAP12,stop_retained_variant,p.=,ENST00000311380,NM_001270699.1;ARHGAP12,stop_retained_variant,p.=,ENST00000344936,NM_018287.6;ARHGAP12,non_coding_transcript_exon_variant,,ENST00000492028,;ARHGAP12,non_coding_transcript_exon_variant,,ENST00000493008,;ARHGAP12,non_coding_transcript_exon_variant,,ENST00000497085,;ARHGAP12,downstream_gene_variant,,ENST00000497103,;	T	ENST00000344936	Transcript	stop_retained_variant	2775/4128	2540/2541	847/846	*	tGa/tAa		1		-1	ARHGAP12	HGNC	HGNC:16348	protein_coding	YES	CCDS7170.1	ENSP00000345808	Q8IWW6		UPI000007445E	NM_018287.6			20/20																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	31807659	31807659	C	T	1	0	0	0	0	0	0	0	1	989	837	29	3		3	ARHGAP12	10	31807659	Silent	SNP	C	C3L-00080_TP	3870927	31807659	101989763	429	2640											
FZD8	0	.	GRCh38	chr10	35640727	35640727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgctcaccataggcgcgcGgcactggcacccgggctcgc	6	4	13	18	6	1	0	1	0	0	0	2	0	1	0	2	4	0	4	2	4	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.703C>T	p.Arg235Cys	p.R235C	ENST00000374694	1/1	90	58	32	57	57	0	strelka-varscan-mutect	FZD8,missense_variant,p.Arg235Cys,ENST00000374694,NM_031866.2;FZD8,downstream_gene_variant,,ENST00000579659,;	A	ENST00000374694	Transcript	missense_variant	1552/4030	703/2085	235/694	R/C	Cgc/Tgc		1		-1	FZD8	HGNC	HGNC:4046	protein_coding	YES	CCDS7192.1	ENSP00000363826	Q9H461		UPI0000047F3B	NM_031866.2	deleterious(0)		1/1		hmmpanther:PTHR11309:SF89,hmmpanther:PTHR11309																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	7	35640727	35640727	G	A	1	0	0	0	0	1	0	0	0	6007	1116	39	1		1	FZD8	10	35640727	Missense_Mutation	SNP	G	C3L-00080_TP	3833068	35640727	98156695	430	2641											
ANTXRL	0	.	GRCh38	chr10	46330012	46330012	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccctccaggatgctgccGctgctgtccccactgctcag	4	9	9	19	1	1	0	1	0	0	0	4	1	4	1	6	1	4	4	6	1	0	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1824G>C	p.=	p.P608P	ENST00000620264	17/17	168	130	38	100	100	0	strelka-varscan-mutect	ANTXRL,missense_variant,p.Arg535Pro,ENST00000622632,;ANTXRL,synonymous_variant,p.=,ENST00000620264,NM_001278688.2;ANTXRL,3_prime_UTR_variant,,ENST00000617088,;	C	ENST00000620264	Transcript	synonymous_variant	2089/2206	1824/1896	608/631	P	ccG/ccC		1		1	ANTXRL	HGNC	HGNC:27277	protein_coding	YES	CCDS60524.1	ENSP00000480615	A6NF34		UPI00015B6A6A	NM_001278688.2			17/17		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs1214044949	.												C	2	2	7	46330012	46330012	G	C	1	0	0	0	0	0	0	0	1	820	1074	38	4		4	ANTXRL	10	46330012	Silent	SNP	G	C3L-00080_TP	10689285	46330012	87467410	431	2642											
RBP3	0	.	GRCh38	chr10	47350925	47350925	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgtattctgtctttgAcagggccacctcaaaagtca	10	11	8	12	0	4	1	2	1	2	0	4	1	4	1	3	1	0	2	3	1	3	3	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.2441A>T	p.Asp814Val	p.D814V	ENST00000584701	1/4	680	463	217	495	495	0	strelka-varscan-mutect	RBP3,missense_variant,p.Asp814Val,ENST00000584701,NM_002900.2;	T	ENST00000584701	Transcript	missense_variant	2555/4276	2441/3744	814/1247	D/V	gAc/gTc		1		1	RBP3	HGNC	HGNC:9921	protein_coding	YES	CCDS73119.1	ENSP00000463151	P10745		UPI000012D87A	NM_002900.2	deleterious(0)		1/4		Gene3D:3.90.226.10,Pfam_domain:PF03572,hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF3,SMART_domains:SM00245,Superfamily_domains:SSF52096																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	47350925	47350925	A	T	1	0	0	0	0	1	0	0	0	13325	275	10	4		4	RBP3	10	47350925	Missense_Mutation	SNP	A	C3L-00080_TP	1020913	47350925	86446497	432	2643											
WDFY4	0	.	GRCh38	chr10	48735933	48735933	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagatcttcctggatgacGagtgctaccgggaggcctcg	8	9	13	11	3	2	2	1	1	1	1	4	5	3	4	3	3	2	1	3	3	2	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1741G>T	p.Glu581Ter	p.E581*	ENST00000325239	10/61	262	179	83	238	238	0	strelka-varscan-mutect	WDFY4,stop_gained,p.Glu581Ter,ENST00000325239,NM_020945.1;WDFY4,stop_gained,p.Glu581Ter,ENST00000360890,;	T	ENST00000325239	Transcript	stop_gained	1741/9555	1741/9555	581/3184	E/*	Gag/Tag		1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1			10/61		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371																	HIGH		SNV	5			1										PASS		rs961602324	.												T	4	4	7	48735933	48735933	G	T	1	0	0	0	0	0	1	0	0	17831	1059	37	1		1	WDFY4	10	48735933	Nonsense_Mutation	SNP	G	C3L-00080_TP	1385008	48735933	85061489	433	2644											
FAM21A	0	.	GRCh38	chr10	50129629	50129629	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaggccctggcagctgccGctgcaccttgggaaggtggt	6	7	17	11	1	0	0	0	0	0	0	0	2	0	2	3	6	3	4	3	6	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.3298G>C	p.Ala1100Pro	p.A1100P	ENST00000282633	29/31	813	431	382	893	893	0	strelka-varscan-mutect	FAM21A,missense_variant,p.Ala1079Pro,ENST00000351071,NM_001291398.1;FAM21A,missense_variant,p.Ala1038Pro,ENST00000314664,;FAM21A,missense_variant,p.Ala1004Pro,ENST00000611324,;FAM21A,missense_variant,p.Ala1012Pro,ENST00000399339,;FAM21A,missense_variant,p.Ala1100Pro,ENST00000282633,NM_001005751.2;FAM21A,downstream_gene_variant,,ENST00000454806,;FAM21A,3_prime_UTR_variant,,ENST00000434114,;	C	ENST00000282633	Transcript	missense_variant	3343/4272	3298/4026	1100/1341	A/P	Gct/Cct		1		1	FAM21A	HGNC	HGNC:23416	protein_coding	YES	CCDS41527.1	ENSP00000282633	Q641Q2		UPI000044FEAB	NM_001005751.2	tolerated(0.27)		29/31		hmmpanther:PTHR21669,hmmpanther:PTHR21669:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1358423847	.												C	3	2	7	50129629	50129629	G	C	1	0	0	0	0	1	0	0	0	5411	1087	38	4		4	FAM21A	10	50129629	Missense_Mutation	SNP	G	C3L-00080_TP	1393696	50129629	83667793	434	2645											
TET1	0	.	GRCh38	chr10	68573977	68573977	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagacagagggagctccCaggtcagtgtaaccagcaca	14	5	11	11	0	2	2	2	0	0	2	3	3	3	3	2	2	3	3	2	2	2	1	rs754378171		C3L-00080_TP	C3L-00080_NB	C	C																c.1639C>T	p.Gln547Ter	p.Q547*	ENST00000373644	2/12	309	230	79	334	332	2	strelka-varscan-mutect	TET1,stop_gained,p.Gln547Ter,ENST00000373644,NM_030625.2;	T	ENST00000373644	Transcript	stop_gained	1848/9288	1639/6411	547/2136	Q/*	Cag/Tag	rs754378171	1		1	TET1	HGNC	HGNC:29484	protein_coding	YES	CCDS7281.1	ENSP00000362748	Q8NFU7		UPI000013D114	NM_030625.2			2/12		Low_complexity_(Seg):seg,hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF2																	HIGH	1	SNV	1			1										PASS		rs754378171	.												T	4	4	7	68573977	68573977	C	T	1	0	0	0	0	0	1	0	0	16190	595	21	3		3	TET1	10	68573977	Nonsense_Mutation	SNP	C	C3L-00080_TP	18444348	68573977	65223445	435	2646											
UNC5B	0	.	GRCh38	chr10	71288712	71288712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgactctaagaactgcaCagatgggctgtgcatgcaaa	12	8	11	10	1	1	2	0	0	1	2	2	3	1	2	0	1	4	5	0	1	3	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1046C>T	p.Thr349Ile	p.T349I	ENST00000335350	7/17	83	61	22	99	99	0	strelka-varscan-mutect	UNC5B,missense_variant,p.Thr349Ile,ENST00000335350,NM_170744.4;UNC5B,missense_variant,p.Thr349Ile,ENST00000373192,NM_001244889.1;	T	ENST00000335350	Transcript	missense_variant	1462/6841	1046/2838	349/945	T/I	aCa/aTa		1		1	UNC5B	HGNC	HGNC:12568	protein_coding	YES	CCDS7309.1	ENSP00000334329	Q8IZJ1		UPI000000D753	NM_170744.4	deleterious(0)		7/17		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF6,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	71288712	71288712	C	T	1	0	0	0	0	1	0	0	0	17516	478	17	3		3	UNC5B	10	71288712	Missense_Mutation	SNP	C	C3L-00080_TP	2714735	71288712	62508710	436	2647											
KCNMA1	0	.	GRCh38	chr10	76944868	76944868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attccttgtcctgcagcgaaGtatcatcaatattattctga	11	15	6	9	1	3	1	2	1	1	0	5	2	5	1	2	0	2	2	2	0	5	6	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2807C>T	p.Thr936Ile	p.T936I	ENST00000286628	23/28	324	267	57	412	411	1	strelka-varscan-mutect	KCNMA1,missense_variant,p.Thr743Ile,ENST00000604624,NM_001322832.1,NM_001322829.1;KCNMA1,missense_variant,p.Thr878Ile,ENST00000286627,NM_002247.3;KCNMA1,missense_variant,p.Thr936Ile,ENST00000286628,NM_001161352.1;KCNMA1,missense_variant,p.Thr771Ile,ENST00000354353,;KCNMA1,missense_variant,p.Thr713Ile,ENST00000406533,NM_001322837.1,NM_001271519.1;KCNMA1,missense_variant,p.Thr878Ile,ENST00000372443,;KCNMA1,missense_variant,p.Thr878Ile,ENST00000372440,NM_001014797.2;KCNMA1,missense_variant,p.Thr936Ile,ENST00000404771,;KCNMA1,missense_variant,p.Thr910Ile,ENST00000457953,;KCNMA1,missense_variant,p.Thr919Ile,ENST00000626620,NM_001161353.1;KCNMA1,missense_variant,p.Thr871Ile,ENST00000372437,;KCNMA1,missense_variant,p.Thr852Ile,ENST00000372421,;KCNMA1,missense_variant,p.Thr815Ile,ENST00000372408,;KCNMA1,missense_variant,p.Thr829Ile,ENST00000372403,;KCNMA1,missense_variant,p.Thr714Ile,ENST00000404857,NM_001271518.1;KCNMA1,missense_variant,p.Thr586Ile,ENST00000434208,;KCNMA1-AS1,intron_variant,,ENST00000600782,;KCNMA1-AS1,intron_variant,,ENST00000598613,;KCNMA1-AS1,intron_variant,,ENST00000617241,;KCNMA1-AS1,intron_variant,,ENST00000426234,;KCNMA1-AS1,intron_variant,,ENST00000458661,;KCNMA1-AS1,intron_variant,,ENST00000608791,;KCNMA1-AS1,intron_variant,,ENST00000611475,;	A	ENST00000286628	Transcript	missense_variant	2807/6100	2807/3711	936/1236	T/I	aCt/aTt		1		-1	KCNMA1	HGNC	HGNC:6284	protein_coding	YES	CCDS60569.1	ENSP00000286628	Q12791		UPI00003519E7	NM_001161352.1	deleterious(0.01)		23/28		Gene3D:3.40.50.720,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	76944868	76944868	G	A	1	0	0	0	0	1	0	0	0	7990	1029	36	3		3	KCNMA1	10	76944868	Missense_Mutation	SNP	G	C3L-00080_TP	5656156	76944868	56852554	437	2648											
DLG5	0	.	GRCh38	chr10	77821114	77821114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaggaatcactactggagCaagcttcggccgaaaactgg	13	6	12	10	2	1	0	1	0	0	0	2	3	1	2	1	4	5	3	1	4	5	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.3370G>T	p.Ala1124Ser	p.A1124S	ENST00000372391	15/32	92	74	18	81	81	0	strelka-varscan-mutect	DLG5,missense_variant,p.Ala1124Ser,ENST00000372391,NM_004747.3;DLG5,intron_variant,,ENST00000424842,;DLG5,non_coding_transcript_exon_variant,,ENST00000459739,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;DLG5,upstream_gene_variant,,ENST00000463362,;DLG5,upstream_gene_variant,,ENST00000476354,;DLG5,downstream_gene_variant,,ENST00000466198,;	A	ENST00000372391	Transcript	missense_variant	3376/7415	3370/5760	1124/1919	A/S	Gct/Tct		1		-1	DLG5	HGNC	HGNC:2904	protein_coding	YES	CCDS7353.2	ENSP00000361467	Q8TDM6		UPI0000470041	NM_004747.3	tolerated(0.11)		15/32		hmmpanther:PTHR13865:SF31,hmmpanther:PTHR13865																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	77821114	77821114	C	A	1	0	0	0	0	1	0	0	0	4365	710	25	2		2	DLG5	10	77821114	Missense_Mutation	SNP	C	C3L-00080_TP	876246	77821114	55976308	438	2649											
LRIT2	0	.	GRCh38	chr10	84224679	84224679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcagccccacagtcaggCtgccggcatttctggtaggc	7	9	11	14	1	3	0	2	0	2	0	4	0	3	0	3	4	2	3	3	4	1	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.546G>C	p.Gln182His	p.Q182H	ENST00000538192	2/4	122	80	42	134	134	0	strelka-varscan-mutect	LRIT2,missense_variant,p.Gln182His,ENST00000538192,NM_001284223.1;LRIT2,missense_variant,p.Gln182His,ENST00000372113,NM_001017924.3;	G	ENST00000538192	Transcript	missense_variant	615/3177	546/1683	182/560	Q/H	caG/caC		1		-1	LRIT2	HGNC	HGNC:23443	protein_coding	YES	CCDS60581.1	ENSP00000438264	A6NDA9		UPI000189A8DA	NM_001284223.1	tolerated(0.1)		2/4		Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	84224679	84224679	C	G	1	0	0	0	0	1	0	0	0	8843	796	28	4		4	LRIT2	10	84224679	Missense_Mutation	SNP	C	C3L-00080_TP	6403565	84224679	49572743	439	2650											
EXOC6	0	.	GRCh38	chr10	92899613	92899613	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagtgctagaaatgtacAgtaagctgaaagaacagatg	17	8	11	5	0	0	4	0	1	0	3	0	4	0	4	0	0	5	5	0	0	6	3	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.427A>G	p.Ser143Gly	p.S143G	ENST00000260762	5/22	69	55	14	132	132	0	strelka-varscan-mutect	EXOC6,missense_variant,p.Ser143Gly,ENST00000260762,NM_001319195.1,NM_019053.4;EXOC6,missense_variant,p.Ser138Gly,ENST00000371552,NM_001319194.1,NM_001013848.2;EXOC6,missense_variant,p.Ser143Gly,ENST00000443748,NM_001319200.1;EXOC6,missense_variant,p.Ser143Gly,ENST00000371543,;	G	ENST00000260762	Transcript	missense_variant	441/3564	427/2415	143/804	S/G	Agt/Ggt		1		1	EXOC6	HGNC	HGNC:23196	protein_coding	YES	CCDS7424.2	ENSP00000260762	Q8TAG9		UPI0000141914	NM_001319195.1,NM_019053.4	tolerated(0.27)		5/22		hmmpanther:PTHR12702,hmmpanther:PTHR12702:SF2,PIRSF_domain:PIRSF025007																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	92899613	92899613	A	G	1	0	0	0	0	1	0	0	0	5176	188	7	5		5	EXOC6	10	92899613	Missense_Mutation	SNP	A	C3L-00080_TP	8674934	92899613	40897809	440	2651											
SLC18A2	0	.	GRCh38	chr10	117255290	117255290	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgcagtgggcccccccttCgggagtgtgctctatgagtt	4	11	13	13	1	1	1	0	1	1	0	2	2	1	2	4	2	2	3	4	2	1	3	rs549412168		C3L-00080_TP	C3L-00080_NB	C	C																c.714C>T	p.=	p.F238F	ENST00000298472	7/16	169	97	72	113	113	0	strelka-varscan-mutect	SLC18A2,synonymous_variant,p.=,ENST00000298472,NM_003054.4;SLC18A2,non_coding_transcript_exon_variant,,ENST00000497497,;	T	ENST00000298472	Transcript	synonymous_variant	857/3852	714/1545	238/514	F	ttC/ttT	rs549412168,COSM2055062	1		1	SLC18A2	HGNC	HGNC:10935	protein_coding	YES	CCDS7599.1	ENSP00000298472	Q05940		UPI00001389DE	NM_003054.4			7/16		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR23506,hmmpanther:PTHR23506:SF8,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix											0,1						LOW	1	SNV	1		0,1	1										PASS		rs549412168	.												T	2	4	7	117255290	117255290	C	T	1	0	0	0	0	0	0	0	1	14691	883	31	1		1	SLC18A2	10	117255290	Silent	SNP	C	C3L-00080_TP	24355677	117255290	16542132	441	2652											
TACC2	0	.	GRCh38	chr10	122210981	122210981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggaaggtcctagcccaGccttattggaggagacgccc	10	6	13	12	2	0	2	0	0	0	2	1	5	1	4	4	4	2	0	4	4	3	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.6556G>T	p.Ala2186Ser	p.A2186S	ENST00000369005	9/23	168	136	32	150	150	0	strelka-varscan-mutect	TACC2,missense_variant,p.Ala2186Ser,ENST00000369005,NM_206862.3;TACC2,missense_variant,p.Ala2186Ser,ENST00000334433,;TACC2,missense_variant,p.Ala2190Ser,ENST00000515273,NM_001291877.1;TACC2,missense_variant,p.Ala2190Ser,ENST00000453444,;TACC2,missense_variant,p.Ala2141Ser,ENST00000515603,NM_001291876.1;TACC2,missense_variant,p.Ala332Ser,ENST00000513429,NM_206861.2;TACC2,missense_variant,p.Ala264Ser,ENST00000360561,NM_206860.2;TACC2,missense_variant,p.Ala264Ser,ENST00000368999,;TACC2,missense_variant,p.Ala332Ser,ENST00000358010,;TACC2,missense_variant,p.Ala264Ser,ENST00000369004,NM_001291878.1;TACC2,missense_variant,p.Ala264Ser,ENST00000260733,NM_006997.3;TACC2,missense_variant,p.Ala281Ser,ENST00000514539,;TACC2,missense_variant,p.Ala27Ser,ENST00000505639,;TACC2,5_prime_UTR_variant,,ENST00000369000,;TACC2,5_prime_UTR_variant,,ENST00000369001,NM_001291879.1;TACC2,upstream_gene_variant,,ENST00000496913,;TACC2,upstream_gene_variant,,ENST00000508411,;TACC2,downstream_gene_variant,,ENST00000493951,;TACC2,downstream_gene_variant,,ENST00000492237,;TACC2,missense_variant,p.Ala33Ser,ENST00000440764,;TACC2,non_coding_transcript_exon_variant,,ENST00000368997,;	T	ENST00000369005	Transcript	missense_variant	6896/9673	6556/8847	2186/2948	A/S	Gcc/Tcc		1		1	TACC2	HGNC	HGNC:11523	protein_coding	YES	CCDS7626.1	ENSP00000358001	O95359		UPI0000246F6B	NM_206862.3	tolerated(0.26)		9/23		hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11																	MODERATE	1	SNV	1			1										PASS		rs914335011	.												T	3	4	7	122210981	122210981	G	T	1	0	0	0	0	1	0	0	0	15898	971	34	2		2	TACC2	10	122210981	Missense_Mutation	SNP	G	C3L-00080_TP	4955691	122210981	11586441	442	2653											
TEX36	0	.	GRCh38	chr10	125655908	125655908	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctgggaggattaggactCcagtgaagaaacaacctttt	12	11	10	8	0	1	2	0	1	1	1	2	5	2	5	2	3	2	0	2	3	4	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.553G>T	p.Glu185Ter	p.E185*	ENST00000368821	4/4	53	41	12	69	69	0	strelka-varscan-mutect	TEX36,stop_gained,p.Glu185Ter,ENST00000368821,NM_001128202.1;TEX36,intron_variant,,ENST00000532135,NM_001318133.1;TEX36,intron_variant,,ENST00000526819,;	A	ENST00000368821	Transcript	stop_gained	708/922	553/561	185/186	E/*	Gag/Tag		1		-1	TEX36	HGNC	HGNC:31653	protein_coding	YES	CCDS44493.1	ENSP00000357811	Q5VZQ5		UPI00001D808E	NM_001128202.1			4/4		hmmpanther:PTHR35440,hmmpanther:PTHR35440:SF1																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	7	125655908	125655908	C	A	1	0	0	0	0	0	1	0	0	16212	864	30	2		2	TEX36	10	125655908	Nonsense_Mutation	SNP	C	C3L-00080_TP	3444927	125655908	8141514	443	2654											
AP2A2	0	.	GRCh38	chr11	1008034	1008034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacctgcagaccaagccCgtggacccgaccgtggaggg	9	4	14	14	3	0	2	0	1	0	1	0	5	0	4	5	3	3	1	5	3	2	0	rs369597745		C3L-00080_TP	C3L-00080_NB	C	C																c.2322C>T	p.=	p.P774P	ENST00000332231	18/22	363	269	94	337	337	0	strelka-varscan-mutect	AP2A2,synonymous_variant,p.=,ENST00000332231,NM_001242837.1;AP2A2,synonymous_variant,p.=,ENST00000448903,NM_012305.3;AP2A2,intron_variant,,ENST00000534328,;MUC6,downstream_gene_variant,,ENST00000421673,NM_005961.2;AP2A2,non_coding_transcript_exon_variant,,ENST00000525891,;AP2A2,non_coding_transcript_exon_variant,,ENST00000529438,;AP2A2,3_prime_UTR_variant,,ENST00000528815,;AP2A2,non_coding_transcript_exon_variant,,ENST00000531497,;AP2A2,non_coding_transcript_exon_variant,,ENST00000526401,;AP2A2,non_coding_transcript_exon_variant,,ENST00000529427,;AP2A2,upstream_gene_variant,,ENST00000528816,;AP2A2,downstream_gene_variant,,ENST00000526376,;	T	ENST00000332231	Transcript	synonymous_variant	2535/4656	2322/2823	774/940	P	ccC/ccT	rs369597745,COSM5037487	1		1	AP2A2	HGNC	HGNC:562	protein_coding	YES	CCDS73234.1	ENSP00000327694	O94973		UPI000050AA18	NM_001242837.1			18/22		Gene3D:1kyfA01,PIRSF_domain:PIRSF037091,Pfam_domain:PF02883,SMART_domains:SM00809,Superfamily_domains:SSF49348											0,1						LOW	1	SNV	1		0,1	1										PASS		rs369597745	.												T	2	4	7	1008034	1008034	C	T	1	0	0	0	0	0	0	0	1	856	639	23	1		1	AP2A2	11	1008034	Silent	SNP	C	C3L-00080_TP		1008034	134078588	444	2655											
MUC5AC	0	.	GRCh38	chr11	1194539	1194539	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccggaaaaacggcatcgTggtctcgcgcatcggcgtca	8	8	12	13	7	2	0	1	0	1	0	6	1	3	1	1	4	1	2	1	4	2	1	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.15059T>A	p.Val5020Glu	p.V5020E	ENST00000621226	35/49	151	81	70	172	171	1	strelka-varscan-mutect	MUC5AC,missense_variant,p.Val5020Glu,ENST00000621226,NM_001304359.1;	A	ENST00000621226	Transcript	missense_variant	15106/17448	15059/16965	5020/5654	V/E	gTg/gAg		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	tolerated(0.33)		35/49		Pfam_domain:PF00094,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF291,SMART_domains:SM00216																	MODERATE	1	SNV	5			1										PASS		rs1397134509	.												A	3	1	7	1194539	1194539	T	A	1	0	0	0	0	1	0	0	0	9978	1696	59	4		4	MUC5AC	11	1194539	Missense_Mutation	SNP	T	C3L-00080_TP	186505	1194539	133892083	445	2656											
TRPM5	0	.	GRCh38	chr11	2420360	2420360	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccagtgaacagagggggcCctggctgccgccgtcatcct	6	7	14	14	2	1	2	1	1	0	1	3	2	3	2	5	3	2	1	5	3	1	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.511G>T	p.Gly171Cys	p.G171C	ENST00000155858	4/24	128	77	51	143	143	0	strelka-varscan-mutect	TRPM5,missense_variant,p.Gly171Cys,ENST00000155858,NM_014555.3;TRPM5,missense_variant,p.Gly165Cys,ENST00000533881,;TRPM5,missense_variant,p.Gly171Cys,ENST00000533060,;TRPM5,missense_variant,p.Gly171Cys,ENST00000528453,;	A	ENST00000155858	Transcript	missense_variant	520/3929	511/3498	171/1165	G/C	Ggc/Tgc		1		-1	TRPM5	HGNC	HGNC:14323	protein_coding	YES	CCDS31340.1	ENSP00000155858	Q9NZQ8		UPI000003B069	NM_014555.3	deleterious(0.03)		4/24		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	2420360	2420360	C	A	1	0	0	0	0	1	0	0	0	17095	623	22	2		2	TRPM5	11	2420360	Missense_Mutation	SNP	C	C3L-00080_TP	1225821	2420360	132666262	446	2657											
CHRNA10	0	.	GRCh38	chr11	3667268	3667268	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggccggtggcatgctctCggccagcagcaactggaaga	8	6	14	13	3	1	1	0	0	1	1	3	2	1	2	2	5	4	4	2	5	2	0	rs769677015		C3L-00080_TP	C3L-00080_NB	C	C																c.859G>T	p.Glu287Ter	p.E287*	ENST00000250699	4/5	201	157	44	206	206	0	strelka-varscan-mutect	CHRNA10,stop_gained,p.Glu287Ter,ENST00000250699,NM_020402.3;CHRNA10,synonymous_variant,p.=,ENST00000534359,NM_001303034.1,NM_001303035.1;ART1,downstream_gene_variant,,ENST00000250693,NM_004314.2;NUP98,downstream_gene_variant,,ENST00000533346,;Y_RNA,upstream_gene_variant,,ENST00000364409,;Y_RNA,upstream_gene_variant,,ENST00000363331,;CHRNA10,downstream_gene_variant,,ENST00000493827,;CHRNA10,3_prime_UTR_variant,,ENST00000526599,;	A	ENST00000250699	Transcript	stop_gained	931/1945	859/1353	287/450	E/*	Gag/Tag	rs769677015	1		-1	CHRNA10	HGNC	HGNC:13800	protein_coding	YES	CCDS7745.1	ENSP00000250699	Q9GZZ6		UPI0000038CF1	NM_020402.3			4/5		hmmpanther:PTHR18945:SF566,hmmpanther:PTHR18945,Gene3D:1.20.120.370,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112																	HIGH	1	SNV	1			1										PASS		rs769677015	.												A	4	1	7	3667268	3667268	C	A	1	0	0	0	0	0	1	0	0	3142	893	31	1		1	CHRNA10	11	3667268	Nonsense_Mutation	SNP	C	C3L-00080_TP	1246908	3667268	131419354	447	2658											
OR51F2	0	.	GRCh38	chr11	4821760	4821760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggatttactttcatggaGtctggggttctactggccat	7	14	11	9	1	3	0	1	0	2	0	3	2	3	2	1	5	2	1	1	5	2	5	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.375G>T	p.Glu125Asp	p.E125D	ENST00000322110	1/1	47	29	18	68	68	0	strelka-varscan-mutect	OR51F2,missense_variant,p.Glu125Asp,ENST00000322110,NM_001004753.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	T	ENST00000322110	Transcript	missense_variant	375/1029	375/1029	125/342	E/D	gaG/gaT		1		1	OR51F2	HGNC	HGNC:15197	protein_coding	YES	CCDS31361.1	ENSP00000323952	Q8NH61		UPI000004B219	NM_001004753.1	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF87,hmmpanther:PTHR26450,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE		SNV				1										PASS		rs1033058177	.												T	3	4	7	4821760	4821760	G	T	1	0	0	0	0	1	0	0	0	11170	1020	36	2		2	OR51F2	11	4821760	Missense_Mutation	SNP	G	C3L-00080_TP	1154492	4821760	130264862	448	2659											
DCHS1	0	.	GRCh38	chr11	6630054	6630054	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgccagccgataggaCacgcgtgcagcctcgcccag	9	4	12	16	4	0	1	0	0	0	1	1	3	0	2	5	1	4	1	5	1	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.4740G>T	p.=	p.V1580V	ENST00000299441	10/21	33	12	21	23	23	0	strelka-varscan-mutect	DCHS1,synonymous_variant,p.=,ENST00000299441,NM_003737.3;RP11-732A19.6,upstream_gene_variant,,ENST00000526633,;	A	ENST00000299441	Transcript	synonymous_variant	5152/10765	4740/9897	1580/3298	V	gtG/gtT		1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3			10/21		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF335,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	6630054	6630054	C	A	1	0	0	0	0	0	0	0	1	4090	465	17	2		2	DCHS1	11	6630054	Silent	SNP	C	C3L-00080_TP	1808294	6630054	128456568	449	2660											
ASCL3	0	.	GRCh38	chr11	8937932	8937932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatttggataaggcatcGggaaagagaaggggcagggt	13	8	17	3	1	0	1	0	0	0	1	1	4	0	3	0	6	0	3	0	6	4	3	rs147479456		C3L-00080_TP	C3L-00080_NB	G	G																c.230C>G	p.Pro77Arg	p.P77R	ENST00000531618	1/1	200	131	69	216	216	0	strelka-varscan-mutect	ASCL3,missense_variant,p.Pro77Arg,ENST00000531618,NM_020646.2;C11orf16,upstream_gene_variant,,ENST00000326053,NM_020643.2;C11orf16,upstream_gene_variant,,ENST00000525780,;C11orf16,upstream_gene_variant,,ENST00000528998,;C11orf16,upstream_gene_variant,,ENST00000526227,;C11orf16,upstream_gene_variant,,ENST00000527607,;C11orf16,upstream_gene_variant,,ENST00000528830,;	C	ENST00000531618	Transcript	missense_variant	280/633	230/546	77/181	P/R	cCg/cGg	rs147479456	1		-1	ASCL3	HGNC	HGNC:740	protein_coding	YES	CCDS7795.1	ENSP00000435770	Q9NQ33		UPI0000141305	NM_020646.2	tolerated(0.1)		1/1		hmmpanther:PTHR13935																	MODERATE		SNV				1										PASS		rs147479456	.												C	3	2	7	8937932	8937932	G	C	1	0	0	0	0	1	0	0	0	1177	1116	39	4		4	ASCL3	11	8937932	Missense_Mutation	SNP	G	C3L-00080_TP	2307878	8937932	126148690	450	2661											
OTOG	0	.	GRCh38	chr11	17642190	17642190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcacgcccctgggtgccGtgctggtccgctctcccata	4	8	12	17	3	1	0	0	0	1	0	3	0	2	0	5	2	3	4	5	2	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.8395G>T	p.Val2799Leu	p.V2799L	ENST00000399391	52/55	114	52	62	100	100	0	strelka-varscan-mutect	OTOG,missense_variant,p.Val2787Leu,ENST00000399397,NM_001292063.1;OTOG,missense_variant,p.Val2799Leu,ENST00000399391,NM_001277269.1;OTOG,downstream_gene_variant,,ENST00000342528,;	T	ENST00000399391	Transcript	missense_variant	8395/8778	8395/8778	2799/2925	V/L	Gtg/Ttg		1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1	deleterious(0.01)		52/55		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228																	MODERATE	1	SNV	5			1										PASS		rs1210145910	.												T	3	4	7	17642190	17642190	G	T	1	0	0	0	0	1	0	0	0	11370	1145	40	1		1	OTOG	11	17642190	Missense_Mutation	SNP	G	C3L-00080_TP	8704258	17642190	117444432	451	2662											
KCNA4	0	.	GRCh38	chr11	30011517	30011517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggacaagcaaagcagcgaaCcacaaactcaaaggaaaacc	20	1	9	11	1	1	0	1	0	0	0	1	3	1	2	2	2	6	2	2	2	7	0	rs375741098		C3L-00080_TP	C3L-00080_NB	C	C																c.1162G>T	p.Val388Phe	p.V388F	ENST00000328224	2/2	87	56	31	128	128	0	strelka-varscan-mutect	KCNA4,missense_variant,p.Val388Phe,ENST00000328224,NM_002233.3;KCNA4,downstream_gene_variant,,ENST00000526518,;	A	ENST00000328224	Transcript	missense_variant	2396/4172	1162/1962	388/653	V/F	Gtt/Ttt	rs375741098	1		-1	KCNA4	HGNC	HGNC:6222	protein_coding	YES	CCDS41629.1	ENSP00000328511	P22459		UPI00001649FF	NM_002233.3	deleterious(0)		2/2		Gene3D:1.20.120.350,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF45,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		rs375741098	.												A	3	1	7	30011517	30011517	C	A	1	0	0	0	0	1	0	0	0	7921	507	18	2		2	KCNA4	11	30011517	Missense_Mutation	SNP	C	C3L-00080_TP	12369327	30011517	105075105	452	2663											
ARL14EP	0	.	GRCh38	chr11	30332941	30332941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatttgctccagaaactGgtaaaagagaaaaaagaagg	19	7	10	5	0	0	4	0	1	0	3	1	5	1	4	1	2	2	2	1	2	8	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.502G>T	p.Gly168Cys	p.G168C	ENST00000282032	3/4	200	116	84	275	275	0	strelka-varscan-mutect	ARL14EP,missense_variant,p.Gly168Cys,ENST00000530909,;ARL14EP,missense_variant,p.Gly168Cys,ENST00000282032,NM_152316.2;ARL14EP,non_coding_transcript_exon_variant,,ENST00000533457,;ARL14EP,downstream_gene_variant,,ENST00000532047,;	T	ENST00000282032	Transcript	missense_variant	717/2430	502/783	168/260	G/C	Ggt/Tgt		1		1	ARL14EP	HGNC	HGNC:26798	protein_coding	YES	CCDS7869.1	ENSP00000282032	Q8N8R7		UPI000000DC5B	NM_152316.2	deleterious(0.03)		3/4		hmmpanther:PTHR23080,hmmpanther:PTHR23080:SF72,Pfam_domain:PF14949																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	30332941	30332941	G	T	1	0	0	0	0	1	0	0	0	1068	1348	47	2		2	ARL14EP	11	30332941	Missense_Mutation	SNP	G	C3L-00080_TP	321424	30332941	104753681	453	2664											
DCDC1	0	.	GRCh38	chr11	30920871	30920871	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcttctccaaaaattgcTacaggtttatgcacagcaag	12	13	6	10	0	2	0	0	0	2	0	4	0	2	0	1	1	4	4	1	1	5	6	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.519A>T	p.=	p.V173V	ENST00000406071	6/20	137	78	59	176	176	0	strelka-varscan-mutect	DCDC1,synonymous_variant,p.=,ENST00000597505,;DCDC1,synonymous_variant,p.=,ENST00000406071,NM_020869.3;DCDC1,synonymous_variant,p.=,ENST00000444572,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;	A	ENST00000406071	Transcript	synonymous_variant	835/4758	519/2673	173/890	V	gtA/gtT		1		-1	DCDC1	HGNC	HGNC:20625	protein_coding	YES	CCDS73270.1	ENSP00000385936		B6ZDN3	UPI0001FB41A5	NM_020869.3			6/20		hmmpanther:PTHR14958:SF27,hmmpanther:PTHR14958																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	7	30920871	30920871	T	A	1	0	0	0	0	0	0	0	1	4086	1509	53	4		4	DCDC1	11	30920871	Silent	SNP	T	C3L-00080_TP	587930	30920871	104165751	454	2665											
HIPK3	0	.	GRCh38	chr11	33347396	33347396	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagccactacagatccgAccaggagttctttctcaggt	9	10	10	12	1	2	1	1	0	2	1	4	3	3	2	3	2	3	2	3	2	1	3	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.2001A>T	p.=	p.R667R	ENST00000303296	9/17	154	77	77	173	173	0	strelka-varscan-mutect	HIPK3,synonymous_variant,p.=,ENST00000303296,NM_005734.4;HIPK3,synonymous_variant,p.=,ENST00000456517,NM_001278162.1;HIPK3,synonymous_variant,p.=,ENST00000379016,NM_001048200.2;HIPK3,synonymous_variant,p.=,ENST00000525975,NM_001278163.1;	T	ENST00000303296	Transcript	synonymous_variant	2306/7408	2001/3648	667/1215	R	cgA/cgT		1		1	HIPK3	HGNC	HGNC:4915	protein_coding	YES	CCDS7884.1	ENSP00000304226	Q9H422		UPI000006D7F8	NM_005734.4			9/17																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	7	33347396	33347396	A	T	1	0	0	0	0	0	0	0	1	7006	262	10	4		4	HIPK3	11	33347396	Silent	SNP	A	C3L-00080_TP	2426525	33347396	101739226	455	2666											
KIAA1549L	0	.	GRCh38	chr11	33545378	33545378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaagctcctggtgaagacaGgtatgagaccactgttctga	11	10	12	8	0	1	4	0	3	1	2	2	5	2	4	2	2	1	4	2	2	3	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2494G>T	p.Val832Phe	p.V832F	ENST00000321505	2/20	64	35	29	73	73	0	strelka-varscan-mutect	KIAA1549L,missense_variant,p.Val832Phe,ENST00000321505,NM_012194.2;KIAA1549L,missense_variant,p.Val838Phe,ENST00000265654,;KIAA1549L,missense_variant,p.Val230Phe,ENST00000526400,;	T	ENST00000321505	Transcript	missense_variant,splice_region_variant	2674/11678	2494/5550	832/1849	V/F	Gtt/Ttt		1		1	KIAA1549L	HGNC	HGNC:24836	protein_coding	YES	CCDS44565.2	ENSP00000315295	Q6ZVL6		UPI0000E59322	NM_012194.2	deleterious(0)		2/20		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	33545378	33545378	G	T	1	0	0	0	0	1	0	0	0	8121	1014	35	2		2	KIAA1549L	11	33545378	Missense_Mutation	SNP	G	C3L-00080_TP	197982	33545378	101541244	456	2667											
LMO2	0	.	GRCh38	chr11	33859388	33859388	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgatcttagtccactcgtAgatgtcctgttcgcacacta	9	14	7	11	2	1	2	0	1	1	1	5	2	3	2	2	0	0	3	2	0	3	5	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.652T>A	p.Tyr218Asn	p.Y218N	ENST00000257818	6/6	198	109	89	255	255	0	strelka-varscan-mutect	LMO2,missense_variant,p.Tyr218Asn,ENST00000257818,NM_005574.3;LMO2,missense_variant,p.Tyr149Asn,ENST00000395833,NM_001142315.1,NM_001142316.1;LMO2,3_prime_UTR_variant,,ENST00000411482,;LMO2,non_coding_transcript_exon_variant,,ENST00000464025,;	T	ENST00000257818	Transcript	missense_variant	1482/2294	652/684	218/227	Y/N	Tac/Aac		1		-1	LMO2	HGNC	HGNC:6642	protein_coding	YES	CCDS7888.2	ENSP00000257818	P25791		UPI00001F9F84	NM_005574.3	tolerated(0.28)		6/6		PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF109,Pfam_domain:PF00412,Gene3D:2.10.110.10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	33859388	33859388	A	T	1	0	0	0	0	1	0	0	0	8778	420	15	4		4	LMO2	11	33859388	Missense_Mutation	SNP	A	C3L-00080_TP	314010	33859388	101227234	457	2668											
OR4A47	0	.	GRCh38	chr11	48489408	48489408	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatggaggactggcttgcActattgtgtttctgctctta	7	15	10	9	0	2	0	0	0	2	0	2	2	2	2	1	3	2	4	1	3	3	5	rs770678138		C3L-00080_TP	C3L-00080_NB	A	A																c.616A>T	p.Thr206Ser	p.T206S	ENST00000446524	1/1	160	132	28	131	131	0	strelka-varscan-mutect	OR4A47,missense_variant,p.Thr206Ser,ENST00000446524,NM_001005512.2;OR4R1P,upstream_gene_variant,,ENST00000529879,;OR4A48P,upstream_gene_variant,,ENST00000531359,;	T	ENST00000446524	Transcript	missense_variant	692/1064	616/930	206/309	T/S	Act/Tct	rs770678138	1		1	OR4A47	HGNC	HGNC:31266	protein_coding	YES	CCDS31490.1	ENSP00000412752	Q6IF82		UPI00001971E5	NM_001005512.2	tolerated_low_confidence(0.22)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF87,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs770678138	.												T	3	4	7	48489408	48489408	A	T	1	0	0	0	0	1	0	0	0	11119	159	6	4		4	OR4A47	11	48489408	Missense_Mutation	SNP	A	C3L-00080_TP	14630020	48489408	86597214	458	2669											
OR4A16	0	.	GRCh38	chr11	55343732	55343732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattgaccactctgtctgtGacatgtacccattgttggaa	9	15	8	9	0	2	2	0	2	2	0	2	3	2	3	2	1	1	2	2	1	3	5			C3L-00080_TP	C3L-00080_NB	G	G																c.532G>T	p.Asp178Tyr	p.D178Y	ENST00000314721	1/1	261	186	75	226	225	1	strelka-varscan-mutect	OR4A16,missense_variant,p.Asp178Tyr,ENST00000314721,NM_001005274.1;	T	ENST00000314721	Transcript	missense_variant	532/987	532/987	178/328	D/Y	Gac/Tac	COSM543558	1		1	OR4A16	HGNC	HGNC:15153	protein_coding	YES	CCDS31499.1	ENSP00000325128	Q8NH70	A0A126GW87	UPI0000061EB2	NM_001005274.1	deleterious_low_confidence(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF355,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	7	55343732	55343732	G	T	1	0	0	0	0	1	0	0	0	11118	1290	45	2		2	OR4A16	11	55343732	Missense_Mutation	SNP	G	C3L-00080_TP	6854324	55343732	79742890	459	2670											
OR4C15	0	.	GRCh38	chr11	55554533	55554533	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagaatccaaatgttcAggaaatagtatttgttgtat	14	15	7	5	0	2	1	2	0	0	1	3	2	3	2	1	1	0	4	1	1	6	7	rs761756464		C3L-00080_TP	C3L-00080_NB	A	A																c.227A>T	p.Gln76Leu	p.Q76L	ENST00000314644	1/1	245	166	79	220	220	0	strelka-varscan-mutect	OR4C15,missense_variant,p.Gln76Leu,ENST00000314644,NM_001001920.1;	T	ENST00000314644	Transcript	missense_variant	227/1113	227/1113	76/370	Q/L	cAg/cTg	rs761756464	1		1	OR4C15	HGNC	HGNC:15171	protein_coding	YES	CCDS31501.1	ENSP00000324958	Q8NGM1		UPI00003B288E	NM_001001920.1	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF14,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs761756464	.												T	3	4	7	55554533	55554533	A	T	1	0	0	0	0	1	0	0	0	11125	188	7	4		4	OR4C15	11	55554533	Missense_Mutation	SNP	A	C3L-00080_TP	210801	55554533	79532089	460	2671											
OR5D18	0	.	GRCh38	chr11	55820364	55820364	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctccacctgtgcctcccaCctgactgccatcaccatctt	6	12	4	19	0	3	1	1	1	2	0	5	1	4	1	7	0	2	0	7	0	0	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.735C>T	p.=	p.H245H	ENST00000333976	1/1	205	142	63	160	160	0	strelka-varscan-mutect	OR5D18,synonymous_variant,p.=,ENST00000333976,NM_001001952.1;	T	ENST00000333976	Transcript	synonymous_variant	735/942	735/942	245/313	H	caC/caT		1		1	OR5D18	HGNC	HGNC:15285	protein_coding	YES	CCDS31510.1	ENSP00000335025	Q8NGL1		UPI0000046197	NM_001001952.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	7	55820364	55820364	C	T	1	0	0	0	0	0	0	0	1	11227	506	18	3		3	OR5D18	11	55820364	Silent	SNP	C	C3L-00080_TP	265831	55820364	79266258	461	2672											
OR5W2	0	.	GRCh38	chr11	55914346	55914346	+	Silent	SNP	G	G	T																															agtagatctaccagcatcttGggcccagttgcagtagaata																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.237C>A	p.=	p.P79P	ENST00000344514	1/1	163	124	39	149	148	1	strelka-varscan-mutect	OR5W2,synonymous_variant,p.=,ENST00000344514,NM_001001960.1;	T	ENST00000344514	Transcript	synonymous_variant	237/933	237/933	79/310	P	ccC/ccA		1		-1	OR5W2	HGNC	HGNC:15299	protein_coding	YES	CCDS31513.1	ENSP00000342448	Q8NH69		UPI0000061E8D	NM_001001960.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF58,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	7	55914346	55914346	G	T	1	0	0	0	0	0	0	0	1	11253	1335	47	2		2	OR5W2	11	55914346	Silent	SNP	G	C3L-00080_TP	93982	55914346	79172276	462	2673	62	2									
OR5W2	0	.	GRCh38	chr11	55914347	55914347	+	Missense_Mutation	SNP	G	G	T																															gtagatctaccagcatcttgGgcccagttgcagtagaatag																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.236C>A	p.Pro79His	p.P79H	ENST00000344514	1/1	162	124	38	146	145	1	strelka-varscan-mutect	OR5W2,missense_variant,p.Pro79His,ENST00000344514,NM_001001960.1;	T	ENST00000344514	Transcript	missense_variant	236/933	236/933	79/310	P/H	cCc/cAc		1		-1	OR5W2	HGNC	HGNC:15299	protein_coding	YES	CCDS31513.1	ENSP00000342448	Q8NH69		UPI0000061E8D	NM_001001960.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF58,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	7	55914347	55914347	G	T	1	0	0	0	0	1	0	0	0	11253	1232	43	2		2	OR5W2	11	55914347	Missense_Mutation	SNP	G	C3L-00080_TP	1	55914347	79172275	463	2674	62	2									
OR8K1	0	.	GRCh38	chr11	56346896	56346896	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcagtgttttataccctGttgattcctatgctgaatcc	7	16	7	11	0	1	2	1	2	0	0	3	2	3	2	4	0	2	3	4	0	4	6	rs757527323		C3L-00080_TP	C3L-00080_NB	G	G																c.858G>T	p.=	p.L286L	ENST00000279783	1/1	133	92	41	160	160	0	strelka-varscan-mutect	OR8K1,synonymous_variant,p.=,ENST00000279783,NM_001002907.1;	T	ENST00000279783	Transcript	synonymous_variant	858/960	858/960	286/319	L	ctG/ctT	rs757527323	1		1	OR8K1	HGNC	HGNC:14831	protein_coding	YES	CCDS31528.1	ENSP00000279783	Q8NGG5	A0A126GVZ6	UPI0000041BC6	NM_001002907.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF298,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		rs757527323	.												T	2	4	7	56346896	56346896	G	T	1	0	0	0	0	0	0	0	1	11311	1364	48	2		2	OR8K1	11	56346896	Silent	SNP	G	C3L-00080_TP	432549	56346896	78739726	464	2675											
OR6Q1	0	.	GRCh38	chr11	58031088	58031088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccttggtggagaatttgGccatcattttagtggtgggt	7	15	13	6	0	2	1	2	0	0	1	2	2	2	1	2	5	0	0	2	5	2	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.136G>T	p.Ala46Ser	p.A46S	ENST00000302622	1/1	317	251	66	273	271	2	strelka-varscan-mutect	OR6Q1,missense_variant,p.Ala46Ser,ENST00000302622,NM_001005186.2;OR9Q1,intron_variant,,ENST00000335397,NM_001005212.3;RNU6-899P,upstream_gene_variant,,ENST00000363947,;	T	ENST00000302622	Transcript	missense_variant	159/1002	136/954	46/317	A/S	Gcc/Tcc		1		1	OR6Q1	HGNC	HGNC:15302	protein_coding	YES	CCDS31541.1	ENSP00000307734	Q8NGQ2	A0A126GVP6	UPI000013E7FD	NM_001005186.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF140,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1217528290	.												T	3	4	7	58031088	58031088	G	T	1	0	0	0	0	1	0	0	0	11278	1203	42	2		2	OR6Q1	11	58031088	Missense_Mutation	SNP	G	C3L-00080_TP	1684192	58031088	77055534	465	2676											
OR10Q1	0	.	GRCh38	chr11	58228534	58228534	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgccaagaggaaacagtcCgtgctgccgagggtgacaaa	13	5	13	10	3	0	2	0	1	0	1	2	4	1	3	3	2	3	1	3	2	3	0	rs747598804		C3L-00080_TP	C3L-00080_NB	C	C																c.342G>T	p.=	p.T114T	ENST00000316770	1/1	219	145	74	138	138	0	strelka-varscan-mutect	OR10Q1,synonymous_variant,p.=,ENST00000316770,NM_001004471.2;	A	ENST00000316770	Transcript	synonymous_variant	385/1037	342/960	114/319	T	acG/acT	rs747598804,COSM4543726	1		-1	OR10Q1	HGNC	HGNC:15134	protein_coding	YES	CCDS31547.1	ENSP00000314324	Q8NGQ4		UPI0000041C4C	NM_001004471.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF253,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						LOW	1	SNV			0,1	1										PASS		rs747598804	.												A	2	1	7	58228534	58228534	C	A	1	0	0	0	0	0	0	0	1	10993	639	23	1		1	OR10Q1	11	58228534	Silent	SNP	C	C3L-00080_TP	197446	58228534	76858088	466	2677											
OR5B12	0	.	GRCh38	chr11	58439985	58439985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tactgaggaagaagtacatgGgggtgtggagacaggagtcc	12	7	17	5	0	0	3	0	1	0	2	1	6	1	5	1	5	2	1	1	5	4	2	rs763580476		C3L-00080_TP	C3L-00080_NB	G	G																c.167C>A	p.Pro56His	p.P56H	ENST00000302572	1/1	282	232	50	197	197	0	strelka-varscan-mutect	OR5B12,missense_variant,p.Pro56His,ENST00000302572,NM_001004733.2;	T	ENST00000302572	Transcript	missense_variant	189/1054	167/945	56/314	P/H	cCc/cAc	rs763580476	1		-1	OR5B12	HGNC	HGNC:15432	protein_coding	YES	CCDS31551.1	ENSP00000306657	Q96R08		UPI00000015B2	NM_001004733.2	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF15,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs763580476	.												T	3	4	7	58439985	58439985	G	T	1	0	0	0	0	1	0	0	0	11219	1232	43	2		2	OR5B12	11	58439985	Missense_Mutation	SNP	G	C3L-00080_TP	211451	58439985	76646637	467	2678											
MPEG1	0	.	GRCh38	chr11	59211523	59211523	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaacacatcttcacacAcggtcttgcagaagacgagg	12	7	10	12	2	3	2	1	0	2	2	3	4	3	3	1	3	2	1	1	3	2	2	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.1343T>C	p.Val448Ala	p.V448A	ENST00000361050	1/1	424	380	44	315	315	0	strelka-varscan-mutect	MPEG1,missense_variant,p.Val448Ala,ENST00000361050,NM_001039396.1;DTX4,downstream_gene_variant,,ENST00000227451,NM_015177.1;RN7SL42P,downstream_gene_variant,,ENST00000579786,;	G	ENST00000361050	Transcript	missense_variant	1429/4442	1343/2151	448/716	V/A	gTg/gCg		1		-1	MPEG1	HGNC	HGNC:29619	protein_coding	YES	CCDS41650.1	ENSP00000354335	Q2M385		UPI0000049D9F	NM_001039396.1	tolerated(0.3)		1/1		hmmpanther:PTHR31463,hmmpanther:PTHR31463:SF4																	MODERATE		SNV				1										PASS		rs748476155	.												G	3	3	7	59211523	59211523	A	G	1	0	0	0	0	1	0	0	0	9688	159	6	5		5	MPEG1	11	59211523	Missense_Mutation	SNP	A	C3L-00080_TP	771538	59211523	75875099	468	2679											
PATL1	0	.	GRCh38	chr11	59639137	59639137	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggtatagagattggcttGgccagggctgcttggggaat	8	11	17	5	0	0	1	0	0	0	1	0	3	0	2	1	6	1	5	1	6	4	6	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2202C>G	p.=	p.A734A	ENST00000300146	18/19	284	215	69	244	244	0	strelka-varscan-mutect	PATL1,synonymous_variant,p.=,ENST00000300146,NM_152716.2;AP000442.1,intron_variant,,ENST00000531311,;AP000442.1,intron_variant,,ENST00000531108,;PATL1,downstream_gene_variant,,ENST00000531919,;	C	ENST00000300146	Transcript	synonymous_variant	2287/4072	2202/2313	734/770	A	gcC/gcG		1		-1	PATL1	HGNC	HGNC:26721	protein_coding	YES	CCDS44613.1	ENSP00000300146	Q86TB9		UPI00001FA7D8	NM_152716.2			18/19		hmmpanther:PTHR21551:SF2,hmmpanther:PTHR21551																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	7	59639137	59639137	G	C	1	0	0	0	0	0	0	0	1	11559	1335	47	4		4	PATL1	11	59639137	Silent	SNP	G	C3L-00080_TP	427614	59639137	75447485	469	2680											
MS4A12	0	.	GRCh38	chr11	60501162	60501162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgttattggtggatacCcattctggggtggcctttct	4	16	12	9	0	2	0	0	0	2	0	2	1	2	1	2	5	2	2	2	5	2	5			C3L-00080_TP	C3L-00080_NB	C	C																c.394C>A	p.Pro132Thr	p.P132T	ENST00000016913	3/7	74	67	7	65	65	0	strelka-varscan-mutect	MS4A12,missense_variant,p.Pro132Thr,ENST00000016913,NM_017716.2;MS4A12,intron_variant,,ENST00000537076,NM_001164470.1;MS4A12,intron_variant,,ENST00000526784,;MS4A12,downstream_gene_variant,,ENST00000530007,;MS4A12,downstream_gene_variant,,ENST00000525951,;	A	ENST00000016913	Transcript	missense_variant	451/1167	394/804	132/267	P/T	Cca/Aca	COSM3450502	1		1	MS4A12	HGNC	HGNC:13370	protein_coding	YES	CCDS7988.1	ENSP00000016913	Q9NXJ0		UPI000006D9F8	NM_017716.2	tolerated(0.12)		3/7		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF72,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	7	60501162	60501162	C	A	1	0	0	0	0	1	0	0	0	9833	623	22	2		2	MS4A12	11	60501162	Missense_Mutation	SNP	C	C3L-00080_TP	862025	60501162	74585460	470	2681											
INCENP	0	.	GRCh38	chr11	62150171	62150171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgactccaccgatgatgagGcccatccccggaagcccatc	10	5	9	17	3	0	2	0	2	0	0	3	5	2	3	6	2	1	0	6	2	1	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2506G>T	p.Ala836Ser	p.A836S	ENST00000394818	18/19	193	126	67	151	151	0	strelka-varscan-mutect	INCENP,missense_variant,p.Ala836Ser,ENST00000394818,NM_001040694.1;INCENP,missense_variant,p.Ala832Ser,ENST00000278849,NM_020238.2;INCENP,upstream_gene_variant,,ENST00000531099,;	T	ENST00000394818	Transcript	missense_variant	2708/3964	2506/2757	836/918	A/S	Gcc/Tcc		1		1	INCENP	HGNC	HGNC:6058	protein_coding	YES	CCDS44624.1	ENSP00000378295	Q9NQS7		UPI0000D7D6F3	NM_001040694.1	tolerated(1)		18/19		hmmpanther:PTHR13142:SF1,hmmpanther:PTHR13142,Pfam_domain:PF03941																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	62150171	62150171	G	T	1	0	0	0	0	1	0	0	0	7635	1203	42	2		2	INCENP	11	62150171	Missense_Mutation	SNP	G	C3L-00080_TP	1649009	62150171	72936451	471	2682											
SLC22A6	0	.	GRCh38	chr11	62984580	62984580	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggcagcagtgaagttctgCagggtgttgtgagaagccat	10	10	15	6	0	1	2	0	2	1	1	1	3	1	2	1	2	3	5	1	2	2	2	rs759569649		C3L-00080_TP	C3L-00080_NB	C	C																c.111G>T	p.=	p.L37L	ENST00000377871	1/10	465	349	116	405	404	1	strelka-varscan-mutect	SLC22A6,synonymous_variant,p.=,ENST00000377871,NM_004790.4;SLC22A6,synonymous_variant,p.=,ENST00000360421,NM_153276.2;SLC22A6,synonymous_variant,p.=,ENST00000421062,NM_153278.2;SLC22A6,synonymous_variant,p.=,ENST00000458333,NM_153277.2;SLC22A6,upstream_gene_variant,,ENST00000537349,;SLC22A6,synonymous_variant,p.=,ENST00000540654,;SLC22A8,downstream_gene_variant,,ENST00000539841,;	A	ENST00000377871	Transcript	synonymous_variant	378/2151	111/1692	37/563	L	ctG/ctT	rs759569649	1		-1	SLC22A6	HGNC	HGNC:10970	protein_coding	YES	CCDS31591.1	ENSP00000367102	Q4U2R8		UPI00000747EC	NM_004790.4			1/10		hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF231,TIGRFAM_domain:TIGR00898																	LOW	1	SNV	1			1										PASS		rs759569649	.												A	2	1	7	62984580	62984580	C	A	1	0	0	0	0	0	0	0	1	14724	697	25	2		2	SLC22A6	11	62984580	Silent	SNP	C	C3L-00080_TP	834409	62984580	72102042	472	2683											
GPR137	0	.	GRCh38	chr11	64286731	64286731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggccctctgtctgctctgGgccgccttgcgtaccaccct	2	11	10	18	2	3	0	0	0	3	0	3	0	3	0	5	2	3	2	5	2	1	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.381G>T	p.Trp127Cys	p.W127C	ENST00000411458	3/9	143	108	35	74	74	0	strelka-varscan-mutect	GPR137,missense_variant,p.Trp69Cys,ENST00000539851,NM_001177358.1;GPR137,missense_variant,p.Trp69Cys,ENST00000438980,NM_001170880.1;GPR137,missense_variant,p.Trp127Cys,ENST00000411458,NM_001170726.1;GPR137,missense_variant,p.Trp69Cys,ENST00000313074,NM_020155.3;GPR137,missense_variant,p.Trp69Cys,ENST00000377702,NM_001170881.1;GPR137,missense_variant,p.Trp75Cys,ENST00000546139,;GPR137,missense_variant,p.Trp69Cys,ENST00000539833,;GPR137,missense_variant,p.Trp69Cys,ENST00000543383,;GPR137,missense_variant,p.Trp69Cys,ENST00000538032,;GPR137,missense_variant,p.Trp69Cys,ENST00000535675,;GPR137,missense_variant,p.Trp69Cys,ENST00000540370,;GPR137,missense_variant,p.Trp69Cys,ENST00000541952,;GPR137,missense_variant,p.Trp69Cys,ENST00000542190,;GPR137,5_prime_UTR_variant,,ENST00000536667,;KCNK4,upstream_gene_variant,,ENST00000422670,NM_033310.2;KCNK4,upstream_gene_variant,,ENST00000538767,;BAD,upstream_gene_variant,,ENST00000394532,NM_004322.3;BAD,upstream_gene_variant,,ENST00000309032,NM_032989.2;BAD,upstream_gene_variant,,ENST00000394531,;BAD,upstream_gene_variant,,ENST00000544785,;GPR137,upstream_gene_variant,,ENST00000536282,;GPR137,downstream_gene_variant,,ENST00000538244,;KCNK4-TEX40,upstream_gene_variant,,ENST00000539086,;KCNK4,upstream_gene_variant,,ENST00000539651,;GPR137,missense_variant,p.Trp69Cys,ENST00000546201,;GPR137,non_coding_transcript_exon_variant,,ENST00000536017,;KCNK4,upstream_gene_variant,,ENST00000453423,;KCNK4,upstream_gene_variant,,ENST00000538846,;BAD,upstream_gene_variant,,ENST00000544271,;GPR137,upstream_gene_variant,,ENST00000545366,;	T	ENST00000411458	Transcript	missense_variant	409/1495	381/1428	127/475	W/C	tgG/tgT		1		1	GPR137	HGNC	HGNC:24300	protein_coding	YES	CCDS53655.1	ENSP00000411827	Q96N19		UPI00017A7FAD	NM_001170726.1	deleterious(0)		3/9		hmmpanther:PTHR15146,hmmpanther:PTHR15146:SF5,Transmembrane_helices:TMhelix																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	7	64286731	64286731	G	T	1	0	0	0	0	1	0	0	0	6531	1241	43	2		2	GPR137	11	64286731	Missense_Mutation	SNP	G	C3L-00080_TP	1302151	64286731	70799891	473	2684											
ATG2A	0	.	GRCh38	chr11	64913917	64913917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggtcactttgatcctcCgaagcactgaggagttgggg	9	9	15	8	1	1	2	1	2	0	0	3	5	3	4	2	5	1	2	2	5	2	2	rs370194802		C3L-00080_TP	C3L-00080_NB	C	C																c.494G>T	p.Arg165Leu	p.R165L	ENST00000377264	4/41	267	159	108	132	132	0	strelka-varscan-mutect	ATG2A,missense_variant,p.Arg165Leu,ENST00000377264,NM_015104.2;ATG2A,intron_variant,,ENST00000421419,;ATG2A,upstream_gene_variant,,ENST00000418259,;PPP2R5B,upstream_gene_variant,,ENST00000526559,;PPP2R5B,upstream_gene_variant,,ENST00000413292,;ATG2A,non_coding_transcript_exon_variant,,ENST00000461701,;ATG2A,downstream_gene_variant,,ENST00000461955,;	A	ENST00000377264	Transcript	missense_variant	607/6357	494/5817	165/1938	R/L	cGg/cTg	rs370194802	1		-1	ATG2A	HGNC	HGNC:29028	protein_coding	YES	CCDS31602.1	ENSP00000366475	Q2TAZ0		UPI00001C1F21	NM_015104.2	deleterious(0.01)		4/41		hmmpanther:PTHR13190,hmmpanther:PTHR13190:SF21																	MODERATE	1	SNV	1			1										PASS		rs370194802	.												A	3	1	7	64913917	64913917	C	A	1	0	0	0	0	1	0	0	0	1245	652	23	1		1	ATG2A	11	64913917	Missense_Mutation	SNP	C	C3L-00080_TP	627186	64913917	70172705	474	2685											
CATSPER1	0	.	GRCh38	chr11	66025314	66025314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgtgagccgagccccgtgGgtgtgctacgtgatagggga	6	8	18	9	3	0	2	0	2	0	0	0	4	0	3	3	3	4	2	3	3	2	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1066C>A	p.Pro356Thr	p.P356T	ENST00000312106	1/12	678	422	256	453	451	2	strelka-varscan-mutect	CATSPER1,missense_variant,p.Pro356Thr,ENST00000312106,NM_053054.3;CATSPER1,upstream_gene_variant,,ENST00000529244,;	T	ENST00000312106	Transcript	missense_variant	1204/2619	1066/2343	356/780	P/T	Cca/Aca		1		-1	CATSPER1	HGNC	HGNC:17116	protein_coding	YES	CCDS8127.1	ENSP00000309052	Q8NEC5		UPI000045651C	NM_053054.3	tolerated(0.64)		1/12																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	66025314	66025314	G	T	1	0	0	0	0	1	0	0	0	2387	1232	43	2		2	CATSPER1	11	66025314	Missense_Mutation	SNP	G	C3L-00080_TP	1111397	66025314	69061308	475	2686											
TMEM151A	0	.	GRCh38	chr11	66294752	66294752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgccagatcacgcgctaccGcaacggcgacgcctacacca	11	3	9	18	7	1	1	1	0	0	1	1	2	1	1	4	1	3	2	4	1	3	2			C3L-00080_TP	C3L-00080_NB	G	G																c.506G>T	p.Arg169Leu	p.R169L	ENST00000327259	2/2	399	252	147	261	261	0	strelka-varscan-mutect	TMEM151A,missense_variant,p.Arg169Leu,ENST00000327259,NM_153266.3;	T	ENST00000327259	Transcript	missense_variant	650/2562	506/1407	169/468	R/L	cGc/cTc	COSM4963661	1		1	TMEM151A	HGNC	HGNC:28497	protein_coding	YES	CCDS8133.1	ENSP00000326244	Q8N4L1		UPI0000070F9B	NM_153266.3	deleterious(0)		2/2		Pfam_domain:PF14857,hmmpanther:PTHR31893,hmmpanther:PTHR31893:SF3											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	7	66294752	66294752	G	T	1	0	0	0	0	1	0	0	0	16512	1087	38	1		1	TMEM151A	11	66294752	Missense_Mutation	SNP	G	C3L-00080_TP	269438	66294752	68791870	476	2687											
NPAS4	0	.	GRCh38	chr11	66422856	66422856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccccgcccaggtcctggcCctggccctggccctgcctcg	2	6	12	21	2	0	0	0	0	0	0	2	1	1	0	8	4	1	0	8	4	0	0	rs752901221		C3L-00080_TP	C3L-00080_NB	C	C																c.613C>A	p.Pro205Thr	p.P205T	ENST00000311034	4/8	515	316	199	352	352	0	strelka-varscan-mutect	NPAS4,missense_variant,p.Pro205Thr,ENST00000311034,NM_178864.3;NPAS4,missense_variant,p.Pro205Thr,ENST00000525148,;NPAS4,upstream_gene_variant,,ENST00000524617,;	A	ENST00000311034	Transcript	missense_variant	789/3303	613/2409	205/802	P/T	Cct/Act	rs752901221	1		1	NPAS4	HGNC	HGNC:18983	protein_coding	YES	CCDS8138.1	ENSP00000311196	Q8IUM7		UPI0000074744	NM_178864.3	tolerated(0.32)		4/8		Low_complexity_(Seg):seg,hmmpanther:PTHR23043:SF24,hmmpanther:PTHR23043																	MODERATE	1	SNV	1			1										PASS		rs752901221	.												A	3	1	7	66422856	66422856	C	A	1	0	0	0	0	1	0	0	0	10613	623	22	2		2	NPAS4	11	66422856	Missense_Mutation	SNP	C	C3L-00080_TP	128104	66422856	68663766	477	2688											
TESMIN	0	.	GRCh38	chr11	68750577	68750577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggccgatgttctccgaagcGaacggaccctcggggcttaa	9	7	13	12	5	1	0	0	0	1	0	3	4	1	1	3	4	2	2	3	4	3	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.84C>G	p.Phe28Leu	p.F28L	ENST00000255087	2/10	115	65	50	56	56	0	strelka-varscan-mutect	TESMIN,missense_variant,p.Phe28Leu,ENST00000443940,;TESMIN,missense_variant,p.Phe28Leu,ENST00000255087,NM_004923.3;TESMIN,missense_variant,p.Phe28Leu,ENST00000544963,NM_001039656.1;CPT1A,downstream_gene_variant,,ENST00000265641,NM_001876.3;CPT1A,downstream_gene_variant,,ENST00000376618,NM_001031847.2;CPT1A,downstream_gene_variant,,ENST00000540367,;TESMIN,non_coding_transcript_exon_variant,,ENST00000432435,;TESMIN,upstream_gene_variant,,ENST00000540869,;TESMIN,upstream_gene_variant,,ENST00000538944,;	C	ENST00000255087	Transcript	missense_variant	268/2579	84/1527	28/508	F/L	ttC/ttG		1		-1	TESMIN	HGNC	HGNC:7446	protein_coding	YES	CCDS8184.1	ENSP00000255087	Q9Y4I5		UPI00001FAE07	NM_004923.3	deleterious_low_confidence(0.03)		2/10		hmmpanther:PTHR12446:SF22,hmmpanther:PTHR12446																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	68750577	68750577	G	C	1	0	0	0	0	1	0	0	0	16188	1049	37	4		4	TESMIN	11	68750577	Missense_Mutation	SNP	G	C3L-00080_TP	2327721	68750577	66336045	478	2689											
IGHMBP2	0	.	GRCh38	chr11	68936363	68936363	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttgaagaccctggtggAgtatttcacacagcatgggg	10	12	12	7	0	1	2	1	1	0	1	1	3	1	3	1	4	1	2	1	4	2	4	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.1883A>C	p.Glu628Ala	p.E628A	ENST00000255078	13/15	640	328	312	365	365	0	strelka-varscan-mutect	IGHMBP2,missense_variant,p.Glu628Ala,ENST00000255078,NM_002180.2;IGHMBP2,downstream_gene_variant,,ENST00000541229,;IGHMBP2,downstream_gene_variant,,ENST00000568742,;IGHMBP2,downstream_gene_variant,,ENST00000536803,;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000543739,;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000539064,;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000545475,;IGHMBP2,upstream_gene_variant,,ENST00000544521,;IGHMBP2,downstream_gene_variant,,ENST00000537458,;	C	ENST00000255078	Transcript	missense_variant	1994/3961	1883/2982	628/993	E/A	gAg/gCg		1		1	IGHMBP2	HGNC	HGNC:5542	protein_coding	YES	CCDS8187.1	ENSP00000255078	P38935		UPI000013CE82	NM_002180.2	tolerated(0.05)		13/15		Gene3D:3.40.50.300,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF375,TIGRFAM_domain:TIGR00376																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	68936363	68936363	A	C	1	0	0	0	0	1	0	0	0	7498	304	11	5		5	IGHMBP2	11	68936363	Missense_Mutation	SNP	A	C3L-00080_TP	185786	68936363	66150259	479	2690											
CHRDL2	0	.	GRCh38	chr11	74697284	74697284	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgactttcttgatctgagtCaagtggaagattcctgaggg	9	13	12	7	0	3	5	1	4	2	1	4	6	4	6	1	2	0	0	1	2	2	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1189G>C	p.Asp397His	p.D397H	ENST00000263671	11/12	157	109	48	140	140	0	strelka-varscan-mutect	CHRDL2,missense_variant,p.Leu378Phe,ENST00000376332,NM_001278473.2;CHRDL2,missense_variant,p.Asp397His,ENST00000263671,NM_015424.5,NM_001304391.1,NM_001304390.1;CHRDL2,missense_variant,p.Asp37His,ENST00000529912,;CHRDL2,intron_variant,,ENST00000622063,;CHRDL2,intron_variant,,ENST00000525413,;CHRDL2,downstream_gene_variant,,ENST00000534159,;RP11-864N7.4,downstream_gene_variant,,ENST00000624759,;CHRDL2,3_prime_UTR_variant,,ENST00000376324,NM_001304416.1;	G	ENST00000263671	Transcript	missense_variant	1476/1712	1189/1356	397/451	D/H	Gac/Cac		1		-1	CHRDL2	HGNC	HGNC:24168	protein_coding	YES	CCDS8234.1	ENSP00000263671	Q6WN34		UPI0000034E41	NM_015424.5,NM_001304391.1,NM_001304390.1	tolerated_low_confidence(0.11)		11/12																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	74697284	74697284	C	G	1	0	0	0	0	1	0	0	0	3134	826	29	4		4	CHRDL2	11	74697284	Missense_Mutation	SNP	C	C3L-00080_TP	5760921	74697284	60389338	480	2691											
OMP	0	.	GRCh38	chr11	77103276	77103276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtacttcctcgtcacctttgGcgagggtgtggagcccgcca	5	10	13	13	3	1	0	1	0	0	0	3	2	2	1	4	3	2	1	4	3	1	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.437G>C	p.Gly146Ala	p.G146A	ENST00000529803	1/1	160	134	26	128	128	0	strelka-varscan-mutect	OMP,missense_variant,p.Gly146Ala,ENST00000529803,NM_006189.1;CAPN5,intron_variant,,ENST00000278559,NM_004055.4;CAPN5,intron_variant,,ENST00000456580,;CAPN5,intron_variant,,ENST00000529629,;CAPN5,intron_variant,,ENST00000531028,;CAPN5,intron_variant,,ENST00000533889,;	C	ENST00000529803	Transcript	missense_variant	437/492	437/492	146/163	G/A	gGc/gCc		1		1	OMP	HGNC	HGNC:8136	protein_coding	YES	CCDS53682.1	ENSP00000436376	P47874		UPI00001637C1	NM_006189.1	tolerated_low_confidence(0.83)		1/1		Superfamily_domains:0037362,Gene3D:1f35A00,PD022055,Pfam_domain:PF06554,hmmpanther:PTHR15357																	MODERATE		SNV				1										PASS		.	.												C	3	2	7	77103276	77103276	G	C	1	0	0	0	0	1	0	0	0	10942	1203	42	4		4	OMP	11	77103276	Missense_Mutation	SNP	G	C3L-00080_TP	2405992	77103276	57983346	481	2692											
TRIM77	0	.	GRCh38	chr11	89710509	89710509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaacgcattatttttgctGagaaacaagttattcctaca	14	14	5	8	1	1	1	1	1	0	1	2	2	2	1	1	0	4	3	1	0	6	6	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.211G>C	p.Glu71Gln	p.E71Q	ENST00000398290	1/6	122	98	24	137	137	0	strelka-varscan-mutect	TRIM77,missense_variant,p.Glu71Gln,ENST00000398290,NM_001146162.1,NM_001271942.1;TRIM77,upstream_gene_variant,,ENST00000534392,;	C	ENST00000398290	Transcript	missense_variant	211/1353	211/1353	71/450	E/Q	Gag/Cag		1		1	TRIM77	HGNC	HGNC:34228	protein_coding	YES	CCDS60929.1	ENSP00000474003	I1YAP6		UPI00001607F2	NM_001146162.1,NM_001271942.1	deleterious(0.02)		1/6		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF353																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	7	89710509	89710509	G	C	1	0	0	0	0	1	0	0	0	17044	1291	45	4		4	TRIM77	11	89710509	Missense_Mutation	SNP	G	C3L-00080_TP	12607233	89710509	45376113	482	2693											
TRIM77	0	.	GRCh38	chr11	89715911	89715911	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagtttctgaggctggcCatgcctcagcctgtgaaccc	8	10	11	12	0	2	3	1	3	1	0	2	3	2	3	4	2	3	2	4	2	2	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.783C>A	p.=	p.A261A	ENST00000398290	5/6	123	76	47	121	121	0	strelka-varscan-mutect	TRIM77,synonymous_variant,p.=,ENST00000398290,NM_001146162.1,NM_001271942.1;TRIM77,synonymous_variant,p.=,ENST00000534392,;	A	ENST00000398290	Transcript	synonymous_variant	783/1353	783/1353	261/450	A	gcC/gcA		1		1	TRIM77	HGNC	HGNC:34228	protein_coding	YES	CCDS60929.1	ENSP00000474003	I1YAP6		UPI00001607F2	NM_001146162.1,NM_001271942.1			5/6		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF353																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	7	89715911	89715911	C	A	1	0	0	0	0	0	0	0	1	17044	581	21	2		2	TRIM77	11	89715911	Silent	SNP	C	C3L-00080_TP	5402	89715911	45370711	483	2694											
TRIM49	0	.	GRCh38	chr11	89798397	89798397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctcattctgattcttCtctttccgatacatattaca	9	19	2	11	1	5	1	1	1	5	0	8	2	6	1	1	0	2	0	1	0	3	8	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1092G>T	p.Glu364Asp	p.E364D	ENST00000329758	8/8	323	302	21	298	298	0	varscan-mutect	TRIM49,missense_variant,p.Glu364Asp,ENST00000329758,NM_020358.2;TRIM49,missense_variant,p.Glu287Asp,ENST00000532501,;	A	ENST00000329758	Transcript	missense_variant	1421/2163	1092/1359	364/452	E/D	gaG/gaT		1		-1	TRIM49	HGNC	HGNC:13431	protein_coding	YES	CCDS8287.1	ENSP00000327604	P0CI25		UPI000013431B	NM_020358.2	tolerated(0.27)		8/8		Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	89798397	89798397	C	A	1	0	0	0	0	1	0	0	0	17014	912	32	2		2	TRIM49	11	89798397	Missense_Mutation	SNP	C	C3L-00080_TP	82486	89798397	45288225	484	2695											
TRIM49C	0	.	GRCh38	chr11	90035298	90035298	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagacccggtcaccatagaCtgtgggcacagcttttgcag	10	9	11	11	1	1	2	1	0	0	2	1	2	1	2	2	2	2	3	2	2	2	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.87C>A	p.Asp29Glu	p.D29E	ENST00000448984	3/8	212	174	38	197	196	1	strelka-varscan-mutect	TRIM49C,missense_variant,p.Asp29Glu,ENST00000448984,NM_001195234.1;	A	ENST00000448984	Transcript	missense_variant	416/2163	87/1359	29/452	D/E	gaC/gaA		1		1	TRIM49C	HGNC	HGNC:38877	protein_coding	YES	CCDS53694.1	ENSP00000388299	P0CI26		UPI000013EA2B	NM_001195234.1	tolerated(0.16)		3/8		Gene3D:3.30.40.10,Pfam_domain:PF15227,PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,SMART_domains:SM00184,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	90035298	90035298	C	A	1	0	0	0	0	1	0	0	0	17016	564	20	2		2	TRIM49C	11	90035298	Missense_Mutation	SNP	C	C3L-00080_TP	236901	90035298	45051324	485	2696											
CARD16	0	.	GRCh38	chr11	105041591	105041591	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccactttattattgtatTctgaacatggcacctctgca	10	15	5	11	0	2	1	0	1	2	0	3	1	3	1	2	1	2	3	2	1	4	6	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.403A>G	p.Asn135Asp	p.N135D	ENST00000375706	3/3	415	333	82	495	495	0	strelka-varscan-mutect	CARD16,missense_variant,p.Asn135Asp,ENST00000375706,NM_001017534.1;CARD16,3_prime_UTR_variant,,ENST00000375704,NM_052889.2;CARD16,3_prime_UTR_variant,,ENST00000525374,;CARD16,downstream_gene_variant,,ENST00000528513,;CARD16,downstream_gene_variant,,ENST00000527065,;	C	ENST00000375706	Transcript	missense_variant	421/686	403/594	135/197	N/D	Aat/Gat		1		-1	CARD16	HGNC	HGNC:33701	protein_coding	YES	CCDS31661.1	ENSP00000364858	Q5EG05		UPI00004C9CE7	NM_001017534.1	deleterious_low_confidence(0.01)		3/3																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	105041591	105041591	T	C	1	0	0	0	0	1	0	0	0	2342	1783	62	5		5	CARD16	11	105041591	Missense_Mutation	SNP	T	C3L-00080_TP	15006293	105041591	30045031	486	2697											
DRD2	0	.	GRCh38	chr11	113410801	113410801	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatgatggggttcacggCgctgttgacatagcccagcc	8	9	14	10	2	1	3	1	2	0	1	1	3	1	3	2	3	2	4	2	3	2	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1258G>T	p.Ala420Ser	p.A420S	ENST00000362072	8/8	312	220	92	270	270	0	strelka-varscan-mutect	DRD2,missense_variant,p.Ala420Ser,ENST00000362072,NM_000795.3;DRD2,missense_variant,p.Ala419Ser,ENST00000544518,;DRD2,missense_variant,p.Ala420Ser,ENST00000542968,;DRD2,missense_variant,p.Ala391Ser,ENST00000346454,NM_016574.3;DRD2,missense_variant,p.Ala422Ser,ENST00000538967,;RP11-159N11.3,intron_variant,,ENST00000546284,;DRD2,downstream_gene_variant,,ENST00000535984,;DRD2,downstream_gene_variant,,ENST00000540600,;DRD2,downstream_gene_variant,,ENST00000539420,;	A	ENST00000362072	Transcript	missense_variant	1603/2789	1258/1332	420/443	A/S	Gcc/Tcc		1		-1	DRD2	HGNC	HGNC:3023	protein_coding	YES	CCDS8361.1	ENSP00000354859	P14416	A0A024R3C5	UPI0000001315	NM_000795.3	deleterious(0.01)		8/8		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF68,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	113410801	113410801	C	A	1	0	0	0	0	1	0	0	0	4576	768	27	1		1	DRD2	11	113410801	Missense_Mutation	SNP	C	C3L-00080_TP	8369210	113410801	21675821	487	2698											
APOA4	0	.	GRCh38	chr11	116821056	116821056	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaagtggccttccacgtcCcccgcatgggggcccagttt	5	9	11	16	2	1	0	1	0	0	0	3	0	3	0	5	3	0	2	5	3	1	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1002G>T	p.=	p.G334G	ENST00000357780	3/3	538	334	204	508	506	2	strelka-varscan-mutect	APOA4,synonymous_variant,p.=,ENST00000357780,NM_000482.3;	A	ENST00000357780	Transcript	synonymous_variant	1117/1473	1002/1191	334/396	G	ggG/ggT		1		-1	APOA4	HGNC	HGNC:602	protein_coding	YES	CCDS31681.1	ENSP00000350425	P06727		UPI00001AE660	NM_000482.3			3/3		hmmpanther:PTHR18976:SF1,hmmpanther:PTHR18976,Gene3D:1.20.120.20,Pfam_domain:PF01442,Superfamily_domains:0053393																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	116821056	116821056	C	A	1	0	0	0	0	0	0	0	1	905	610	22	2		2	APOA4	11	116821056	Silent	SNP	C	C3L-00080_TP	3410255	116821056	18265566	488	2699											
TECTA	0	.	GRCh38	chr11	121118670	121118670	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagctctcagtggaggtGaatggctacaagattctcat	12	10	12	7	0	2	2	2	1	2	1	4	4	2	4	0	4	2	2	0	4	4	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1155G>T	p.=	p.V385V	ENST00000392793	7/24	319	216	103	274	274	0	strelka-varscan-mutect	TECTA,synonymous_variant,p.=,ENST00000392793,;TECTA,synonymous_variant,p.=,ENST00000264037,NM_005422.2;	T	ENST00000392793	Transcript	synonymous_variant	1426/7426	1155/6468	385/2155	V	gtG/gtT		1		1	TECTA	HGNC	HGNC:11720	protein_coding	YES	CCDS8434.1	ENSP00000376543	O75443		UPI000045659D				7/24		PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF235,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	7	121118670	121118670	G	T	1	0	0	0	0	0	0	0	1	16158	1277	45	2		2	TECTA	11	121118670	Silent	SNP	G	C3L-00080_TP	4297614	121118670	13967952	489	2700											
GRAMD1B	0	.	GRCh38	chr11	123430898	123430898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggtccagttcgtcgaccCccacgcttcgccgccggcgc	3	8	11	19	7	1	0	0	0	1	0	5	1	2	0	5	2	0	2	5	2	0	2	rs768783016		C3L-00080_TP	C3L-00080_NB	C	C																c.106C>A	p.Pro36Thr	p.P36T	ENST00000635736	1/20	323	254	69	291	291	0	strelka-varscan-mutect	GRAMD1B,missense_variant,p.Pro36Thr,ENST00000635736,;GRAMD1B,missense_variant,p.Pro36Thr,ENST00000533341,;GRAMD1B,intron_variant,,ENST00000638157,;	A	ENST00000635736	Transcript	missense_variant	205/2814	106/2634	36/877	P/T	Ccc/Acc	rs768783016	1		1	GRAMD1B	HGNC	HGNC:29214	protein_coding			ENSP00000490062			UPI0003EAFB61				1/20		Low_complexity_(Seg):seg,hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3																	MODERATE		SNV				1										PASS		rs768783016	.												A	3	1	7	123430898	123430898	C	A	1	0	0	0	0	1	0	0	0	6627	623	22	2		2	GRAMD1B	11	123430898	Missense_Mutation	SNP	C	C3L-00080_TP	2312228	123430898	11655724	490	2701											
ACRV1	0	.	GRCh38	chr11	125677874	125677874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaaggctgttcacccgagGcctgctcaccagaaggctgt	8	8	12	13	1	2	2	2	1	0	1	2	3	2	2	3	3	1	4	3	3	2	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.476C>A	p.Ala159Asp	p.A159D	ENST00000533904	2/4	381	257	124	330	330	0	strelka-varscan-mutect	ACRV1,missense_variant,p.Ala159Asp,ENST00000533904,NM_001612.5;ACRV1,missense_variant,p.Ala159Asp,ENST00000315608,NM_020069.4;ACRV1,missense_variant,p.Ala104Asp,ENST00000530048,NM_020107.4;ACRV1,missense_variant,p.Ala89Asp,ENST00000527795,NM_020108.4;CHEK1,downstream_gene_variant,,ENST00000428830,NM_001114121.2;CHEK1,downstream_gene_variant,,ENST00000498122,;	T	ENST00000533904	Transcript	missense_variant	819/2212	476/798	159/265	A/D	gCc/gAc		1		-1	ACRV1	HGNC	HGNC:127	protein_coding	YES	CCDS8460.1	ENSP00000432816	P26436		UPI000012615C	NM_001612.5	tolerated(0.1)		2/4		hmmpanther:PTHR17571																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	125677874	125677874	G	T	1	0	0	0	0	1	0	0	0	214	1203	42	2		2	ACRV1	11	125677874	Missense_Mutation	SNP	G	C3L-00080_TP	2246976	125677874	9408748	491	2702											
PRDM10	0	.	GRCh38	chr11	129947205	129947205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtcatccagatccgtgtCctcaccgtcttcttcctcat	6	13	5	17	2	5	1	3	0	2	1	9	1	9	1	6	0	0	0	6	0	0	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.460G>T	p.Asp154Tyr	p.D154Y	ENST00000358825	5/22	263	165	98	248	247	1	strelka-varscan-mutect	PRDM10,missense_variant,p.Asp154Tyr,ENST00000358825,NM_020228.2;PRDM10,missense_variant,p.Asp154Tyr,ENST00000360871,NM_199437.1;PRDM10,missense_variant,p.Asp128Tyr,ENST00000528746,;PRDM10,missense_variant,p.Asp68Tyr,ENST00000423662,NM_199438.1;PRDM10,missense_variant,p.Asp68Tyr,ENST00000304538,NM_199439.1;PRDM10,missense_variant,p.Asp68Tyr,ENST00000526082,;PRDM10,missense_variant,p.Asp134Tyr,ENST00000527581,;PRDM10,upstream_gene_variant,,ENST00000533431,;PRDM10,downstream_gene_variant,,ENST00000531431,;	A	ENST00000358825	Transcript	missense_variant	692/6322	460/3483	154/1160	D/Y	Gac/Tac		1		-1	PRDM10	HGNC	HGNC:13995	protein_coding	YES	CCDS44771.1	ENSP00000351686	Q9NQV6		UPI00002371B3	NM_020228.2	deleterious_low_confidence(0.01)		5/22		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	129947205	129947205	C	A	1	0	0	0	0	1	0	0	0	12582	855	30	2		2	PRDM10	11	129947205	Missense_Mutation	SNP	C	C3L-00080_TP	4269331	129947205	5139417	492	2703											
P3H3	0	.	GRCh38	chr12	6837479	6837479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctgcttctggaggtgagCgagcgggtgcggaccttgac	7	8	17	9	3	1	2	0	2	1	0	1	5	1	4	1	4	5	2	1	4	1	2	rs782015917		C3L-00080_TP	C3L-00080_NB	C	C																c.1617C>A	p.Ser539Arg	p.S539R	ENST00000290510	11/15	241	115	126	219	219	0	strelka-varscan-mutect	P3H3,missense_variant,p.Ser539Arg,ENST00000290510,NM_014262.4;GNB3,upstream_gene_variant,,ENST00000229264,NM_002075.3;GNB3,upstream_gene_variant,,ENST00000435982,NM_001297571.1;GNB3,upstream_gene_variant,,ENST00000541978,;GNB3,upstream_gene_variant,,ENST00000537035,;GNB3,upstream_gene_variant,,ENST00000541257,;P3H3,downstream_gene_variant,,ENST00000538102,;P3H3,non_coding_transcript_exon_variant,,ENST00000536140,;P3H3,non_coding_transcript_exon_variant,,ENST00000612048,;P3H3,non_coding_transcript_exon_variant,,ENST00000541956,;P3H3,non_coding_transcript_exon_variant,,ENST00000544200,;P3H3,non_coding_transcript_exon_variant,,ENST00000544949,;P3H3,non_coding_transcript_exon_variant,,ENST00000540406,;P3H3,non_coding_transcript_exon_variant,,ENST00000542976,;GNB3,upstream_gene_variant,,ENST00000540458,;GNB3,upstream_gene_variant,,ENST00000542868,;GNB3,upstream_gene_variant,,ENST00000539127,;P3H3,downstream_gene_variant,,ENST00000545596,;	A	ENST00000290510	Transcript	missense_variant	1648/2632	1617/2211	539/736	S/R	agC/agA	rs782015917	1		1	P3H3	HGNC	HGNC:19318	protein_coding	YES	CCDS61027.1	ENSP00000478600	Q8IVL6		UPI000007460A	NM_014262.4	deleterious(0)		11/15		hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF14,SMART_domains:SM00702																	MODERATE	1	SNV	1			1										PASS		rs782015917	.												A	3	1	7	6837479	6837479	C	A	1	0	0	0	0	1	0	0	0	11431	767	27	1		1	P3H3	12	6837479	Missense_Mutation	SNP	C	C3L-00080_TP		6837479	126437830	493	2704											
FAM90A1	0	.	GRCh38	chr12	8222276	8222276	+	Missense_Mutation	SNP	T	T	C																															ggatggcgctttcggggatcTggaagggacccagtctcggt																								rs368454789		C3L-00080_TP	C3L-00080_NB	T	T																c.941A>G	p.Gln314Arg	p.Q314R	ENST00000538603	7/7	687	471	216	966	966	0	strelka-varscan-mutect	FAM90A1,missense_variant,p.Gln314Arg,ENST00000538603,NM_018088.3;FAM90A1,missense_variant,p.Gln314Arg,ENST00000307435,NM_001319982.1;FAM90A1,downstream_gene_variant,,ENST00000442295,;RP11-266K4.14,downstream_gene_variant,,ENST00000618256,;RP11-266K4.1,upstream_gene_variant,,ENST00000542600,;	C	ENST00000538603	Transcript	missense_variant	1500/2513	941/1395	314/464	Q/R	cAg/cGg	rs368454789	1		-1	FAM90A1	HGNC	HGNC:25526	protein_coding	YES	CCDS31738.1	ENSP00000445418	Q86YD7		UPI000013EC10	NM_018088.3	deleterious(0)		7/7		hmmpanther:PTHR16035,hmmpanther:PTHR16035:SF9																	MODERATE	1	SNV	1			1										PASS		rs368454789	.												C	3	2	7	8222276	8222276	T	C	1	0	0	0	0	1	0	0	0	5507	1580	55	5		5	FAM90A1	12	8222276	Missense_Mutation	SNP	T	C3L-00080_TP	1384797	8222276	125053033	494	2705	63	2									
FAM90A1	0	.	GRCh38	chr12	8222277	8222277	+	Missense_Mutation	SNP	G	G	T																															gatggcgctttcggggatctGgaagggacccagtctcggtt																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.940C>A	p.Gln314Lys	p.Q314K	ENST00000538603	7/7	696	479	217	968	967	1	strelka-varscan-mutect	FAM90A1,missense_variant,p.Gln314Lys,ENST00000538603,NM_018088.3;FAM90A1,missense_variant,p.Gln314Lys,ENST00000307435,NM_001319982.1;FAM90A1,downstream_gene_variant,,ENST00000442295,;RP11-266K4.14,downstream_gene_variant,,ENST00000618256,;RP11-266K4.1,upstream_gene_variant,,ENST00000542600,;	T	ENST00000538603	Transcript	missense_variant	1499/2513	940/1395	314/464	Q/K	Cag/Aag		1		-1	FAM90A1	HGNC	HGNC:25526	protein_coding	YES	CCDS31738.1	ENSP00000445418	Q86YD7		UPI000013EC10	NM_018088.3	deleterious(0.01)		7/7		hmmpanther:PTHR16035,hmmpanther:PTHR16035:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	8222277	8222277	G	T	1	0	0	0	0	1	0	0	0	5507	1357	47	2		2	FAM90A1	12	8222277	Missense_Mutation	SNP	G	C3L-00080_TP	1	8222277	125053032	495	2706	63	2									
GRIN2B	0	.	GRCh38	chr12	13564446	13564446	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctctgagatgtcatagAcggatgactcccgtcggatg	8	10	14	9	3	2	3	1	2	1	2	4	6	3	5	1	3	1	1	1	3	1	1	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.2792T>A	p.Val931Asp	p.V931D	ENST00000609686	13/13	378	206	172	418	416	2	strelka-varscan-mutect	GRIN2B,missense_variant,p.Val931Asp,ENST00000609686,NM_000834.3;GRIN2B,intron_variant,,ENST00000637214,;GRIN2B,non_coding_transcript_exon_variant,,ENST00000628166,;GRIN2B,upstream_gene_variant,,ENST00000636207,;	T	ENST00000609686	Transcript	missense_variant	3246/30355	2792/4455	931/1484	V/D	gTc/gAc		1		-1	GRIN2B	HGNC	HGNC:4586	protein_coding	YES	CCDS8662.1	ENSP00000477455	Q13224		UPI000013026C	NM_000834.3	deleterious(0)		13/13		Pfam_domain:PF10565																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	13564446	13564446	A	T	1	0	0	0	0	1	0	0	0	6662	275	10	4		4	GRIN2B	12	13564446	Missense_Mutation	SNP	A	C3L-00080_TP	5342169	13564446	119710863	496	2707											
WBP11	0	.	GRCh38	chr12	14787080	14787080	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcacagtagcccttcCatctctttcatgaaagcctc	9	12	6	14	0	3	1	2	1	1	0	6	1	4	1	3	0	3	2	3	0	2	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1911G>T	p.Met637Ile	p.M637I	ENST00000261167	12/12	80	71	9	69	69	0	varscan-mutect	WBP11,missense_variant,p.Met637Ile,ENST00000261167,NM_016312.2;WBP11,downstream_gene_variant,,ENST00000535638,;	A	ENST00000261167	Transcript	missense_variant	2145/4646	1911/1926	637/641	M/I	atG/atT		1		-1	WBP11	HGNC	HGNC:16461	protein_coding	YES	CCDS8666.1	ENSP00000261167	Q9Y2W2	A0A024RAW9	UPI0000035FC2	NM_016312.2	deleterious(0.04)		12/12		hmmpanther:PTHR13361:SF1,hmmpanther:PTHR13361																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	14787080	14787080	C	A	1	0	0	0	0	1	0	0	0	17818	594	21	2		2	WBP11	12	14787080	Missense_Mutation	SNP	C	C3L-00080_TP	1222634	14787080	118488229	497	2708											
RP11-545J16.1	0	.	GRCh38	chr12	20862472	20862472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatggggaatatgcttcGtggcataggggaaaccccca	10	9	12	10	1	1	0	1	0	0	0	2	2	1	2	2	5	2	2	2	5	4	4	rs180875376		C3L-00080_TP	C3L-00080_NB	G	G																c.542G>C	p.Arg181Pro	p.R181P	ENST00000261196	5/14	224	109	115	260	260	0	strelka-varscan-mutect	SLCO1B3,missense_variant,p.Arg181Pro,ENST00000261196,;SLCO1B3,missense_variant,p.Arg181Pro,ENST00000381545,NM_019844.3;RP11-545J16.1,missense_variant,p.Arg181Pro,ENST00000540229,;SLCO1B3,missense_variant,p.Arg5Pro,ENST00000544370,;SLCO1B3,missense_variant,p.Arg181Pro,ENST00000540853,;RP11-545J16.1,intron_variant,,ENST00000381541,;SLCO1B3,downstream_gene_variant,,ENST00000545880,;	C	ENST00000261196	Transcript	missense_variant	609/2840	542/2109	181/702	R/P	cGt/cCt	rs180875376	1		1	SLCO1B3	HGNC	HGNC:10961	protein_coding	YES	CCDS8684.1	ENSP00000261196	Q9NPD5		UPI000013544A		deleterious(0)		5/14		PROSITE_profiles:PS50850,hmmpanther:PTHR11388:SF89,hmmpanther:PTHR11388,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,Pfam_domain:PF03137,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		rs180875376	.												C	3	2	7	20862472	20862472	G	C	1	0	0	0	0	1	0	0	0	13751	1145	40	4		4	RP11-545J16.1	12	20862472	Missense_Mutation	SNP	G	C3L-00080_TP	6075392	20862472	112412837	498	2709											
TMTC1	0	.	GRCh38	chr12	29518494	29518494	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtaccattcttcagccaTgctgttctctcccagtgacc	6	14	6	15	0	3	1	1	1	2	0	5	1	4	1	4	0	3	3	4	0	1	5	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.2002A>G	p.Met668Val	p.M668V	ENST00000539277	13/18	156	139	17	142	142	0	strelka-varscan-mutect	TMTC1,missense_variant,p.Met560Val,ENST00000256062,NM_175861.3;TMTC1,missense_variant,p.Met730Val,ENST00000551659,;TMTC1,missense_variant,p.Met692Val,ENST00000552618,;TMTC1,missense_variant,p.Met668Val,ENST00000539277,NM_001193451.1;RP11-310I24.1,upstream_gene_variant,,ENST00000549070,;TMTC1,non_coding_transcript_exon_variant,,ENST00000319685,;TMTC1,non_coding_transcript_exon_variant,,ENST00000552925,;	C	ENST00000539277	Transcript	missense_variant	2061/2758	2002/2649	668/882	M/V	Atg/Gtg		1		-1	TMTC1	HGNC	HGNC:24099	protein_coding	YES	CCDS53772.1	ENSP00000442046	Q8IUR5		UPI0001DD37FA	NM_001193451.1	tolerated(0.09)		13/18		Gene3D:1.25.40.10,Pfam_domain:PF13424,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF401,SMART_domains:SM00028,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	29518494	29518494	T	C	1	0	0	0	0	1	0	0	0	16734	1464	51	5		5	TMTC1	12	29518494	Missense_Mutation	SNP	T	C3L-00080_TP	8656022	29518494	103756815	499	2710											
ABCD2	0	.	GRCh38	chr12	39607603	39607603	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagaaatgcaagtacctctTtgtatgaagacataatcctt	15	13	6	7	0	1	3	0	1	1	2	2	3	2	3	2	0	2	3	2	0	7	6	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.1232A>G	p.Lys411Arg	p.K411R	ENST00000308666	3/10	180	146	34	170	170	0	varscan-mutect	ABCD2,missense_variant,p.Lys411Arg,ENST00000308666,NM_005164.3;	C	ENST00000308666	Transcript	missense_variant	1368/6238	1232/2223	411/740	K/R	aAa/aGa		1		-1	ABCD2	HGNC	HGNC:66	protein_coding	YES	CCDS8734.1	ENSP00000310688	Q9UBJ2		UPI000004C4C6	NM_005164.3	deleterious(0.02)		3/10		hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	39607603	39607603	T	C	1	0	0	0	0	1	0	0	0	65	1855	64	5		5	ABCD2	12	39607603	Missense_Mutation	SNP	T	C3L-00080_TP	10089109	39607603	93667706	500	2711											
LRRK2	0	.	GRCh38	chr12	40365014	40365014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtgtaatttacaactttTgtaattcggtcagagtcatg	11	16	8	6	2	2	1	2	0	0	1	3	1	2	1	0	1	3	2	0	1	5	8	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.7354T>C	p.Cys2452Arg	p.C2452R	ENST00000298910	49/51	203	166	37	190	190	0	strelka-varscan-mutect	LRRK2,missense_variant,p.Cys2452Arg,ENST00000298910,NM_198578.3;LRRK2,missense_variant,p.Cys385Arg,ENST00000636518,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	C	ENST00000298910	Transcript	missense_variant	7412/9158	7354/7584	2452/2527	C/R	Tgt/Cgt		1		1	LRRK2	HGNC	HGNC:18618	protein_coding	YES	CCDS31774.1	ENSP00000298910	Q5S007		UPI00006C128E	NM_198578.3	deleterious(0)		49/51		Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	40365014	40365014	T	C	1	0	0	0	0	1	0	0	0	8939	1812	63	5		5	LRRK2	12	40365014	Missense_Mutation	SNP	T	C3L-00080_TP	757411	40365014	92910295	501	2712											
ANO6	0	.	GRCh38	chr12	45390464	45390464	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggggaaaatgtatacGgataaccctctgtgccagtg	10	10	12	9	1	1	0	0	0	1	0	1	2	1	2	3	3	4	1	3	3	5	3	rs759903940		C3L-00080_TP	C3L-00080_NB	G	G																c.1415G>C	p.Arg472Pro	p.R472P	ENST00000423947	13/21	450	290	160	352	352	0	strelka-varscan-mutect	ANO6,missense_variant,p.Arg451Pro,ENST00000320560,NM_001025356.2;ANO6,missense_variant,p.Arg433Pro,ENST00000441606,NM_001142678.1;ANO6,missense_variant,p.Arg472Pro,ENST00000423947,NM_001204803.1;ANO6,missense_variant,p.Arg451Pro,ENST00000425752,NM_001142679.1;ANO6,non_coding_transcript_exon_variant,,ENST00000426898,;	C	ENST00000423947	Transcript	missense_variant	1652/5504	1415/2796	472/931	R/P	cGg/cCg	rs759903940	1		1	ANO6	HGNC	HGNC:25240	protein_coding	YES	CCDS55819.1	ENSP00000409126	Q4KMQ2		UPI000022935A	NM_001204803.1	deleterious(0.03)		13/21		hmmpanther:PTHR12308:SF21,hmmpanther:PTHR12308,Pfam_domain:PF04547																	MODERATE	1	SNV	1			1										PASS		rs759903940	.												C	3	2	7	45390464	45390464	G	C	1	0	0	0	0	1	0	0	0	808	1116	39	4		4	ANO6	12	45390464	Missense_Mutation	SNP	G	C3L-00080_TP	5025450	45390464	87884845	502	2713											
NCKAP5L	0	.	GRCh38	chr12	49802976	49802976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttctggttcagcaacgcCtgtaccacatggttggcaac	9	10	9	13	1	2	0	1	0	1	0	2	0	2	0	3	3	4	5	3	3	3	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.213G>T	p.Gln71His	p.Q71H	ENST00000335999	5/13	287	193	94	227	226	1	strelka-varscan-mutect	NCKAP5L,missense_variant,p.Gln71His,ENST00000335999,NM_001037806.3;NCKAP5L,downstream_gene_variant,,ENST00000480927,;NCKAP5L,non_coding_transcript_exon_variant,,ENST00000477361,;NCKAP5L,non_coding_transcript_exon_variant,,ENST00000491441,;	A	ENST00000335999	Transcript	missense_variant	415/4900	213/4005	71/1334	Q/H	caG/caT		1		-1	NCKAP5L	HGNC	HGNC:29321	protein_coding	YES	CCDS41781.2	ENSP00000337998	Q9HCH0		UPI00006C1298	NM_001037806.3	deleterious(0)		5/13		hmmpanther:PTHR21740																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	7	49802976	49802976	C	A	1	0	0	0	0	1	0	0	0	10242	680	24	2		2	NCKAP5L	12	49802976	Missense_Mutation	SNP	C	C3L-00080_TP	4412512	49802976	83472333	503	2714											
KRT1	0	.	GRCh38	chr12	52677330	52677330	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcaccttgctctggtacaAggactcggcctcagctttgc	7	11	9	14	1	3	0	2	0	1	0	4	1	3	1	2	3	4	3	2	3	2	3	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.1114T>G	p.Leu372Val	p.L372V	ENST00000252244	5/9	459	411	48	336	335	1	strelka-varscan-mutect	KRT1,missense_variant,p.Leu372Val,ENST00000252244,NM_006121.3;KRT1,non_coding_transcript_exon_variant,,ENST00000548765,;	C	ENST00000252244	Transcript	missense_variant	1173/2451	1114/1935	372/644	L/V	Ttg/Gtg		1		-1	KRT1	HGNC	HGNC:6412	protein_coding	YES	CCDS8836.1	ENSP00000252244	P04264		UPI000013CD4D	NM_006121.3	tolerated(0.08)		5/9		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF95,Pfam_domain:PF00038,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	52677330	52677330	A	C	1	0	0	0	0	1	0	0	0	8329	69	3	5		5	KRT1	12	52677330	Missense_Mutation	SNP	A	C3L-00080_TP	2874354	52677330	80597979	504	2715											
HOXC13	0	.	GRCh38	chr12	53939579	53939579	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctccaatggctgggacAgtcaggtgtactgctccaag	8	10	11	12	0	2	0	1	0	1	0	5	1	4	1	2	3	2	3	2	3	3	1	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.673A>T	p.Ser225Cys	p.S225C	ENST00000243056	1/2	141	98	43	143	143	0	strelka-varscan-mutect	HOXC13,missense_variant,p.Ser225Cys,ENST00000243056,NM_017410.2;HOXC13-AS,non_coding_transcript_exon_variant,,ENST00000512916,;	T	ENST00000243056	Transcript	missense_variant	815/2423	673/993	225/330	S/C	Agt/Tgt		1		1	HOXC13	HGNC	HGNC:5125	protein_coding	YES	CCDS8865.1	ENSP00000243056	P31276		UPI000012CF7F	NM_017410.2	deleterious(0)		1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF39																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	53939579	53939579	A	T	1	0	0	0	0	1	0	0	0	7206	188	7	4		4	HOXC13	12	53939579	Missense_Mutation	SNP	A	C3L-00080_TP	1262249	53939579	79335730	505	2716											
GTSF1	0	.	GRCh38	chr12	54460419	54460419	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcagagatttgggaactcGcatgcctgaagccaggttat	10	9	13	9	2	0	2	0	1	0	1	1	4	0	3	2	3	3	3	2	3	3	2			C3L-00080_TP	C3L-00080_NB	G	G																c.445C>T	p.Arg149Ter	p.R149*	ENST00000552397	7/9	245	169	76	184	182	2	strelka-varscan-mutect	GTSF1,stop_gained,p.Arg149Ter,ENST00000552397,;GTSF1,stop_gained,p.Arg149Ter,ENST00000305879,NM_144594.2;RP11-753H16.3,intron_variant,,ENST00000550474,;RP11-753H16.5,intron_variant,,ENST00000552785,;GTSF1,non_coding_transcript_exon_variant,,ENST00000552395,;GTSF1,downstream_gene_variant,,ENST00000548538,;GTSF1,upstream_gene_variant,,ENST00000552336,;GTSF1,stop_gained,p.Arg149Ter,ENST00000546931,;GTSF1,non_coding_transcript_exon_variant,,ENST00000546575,;GTSF1,downstream_gene_variant,,ENST00000546739,;	A	ENST00000552397	Transcript	stop_gained	1342/1621	445/504	149/167	R/*	Cga/Tga	COSM941146	1		-1	GTSF1	HGNC	HGNC:26565	protein_coding	YES	CCDS8881.1	ENSP00000446485	Q8WW33	A0A024RB57	UPI0000169CBC				7/9		hmmpanther:PTHR21402,hmmpanther:PTHR21402:SF9											1						HIGH	1	SNV	2		1	1										PASS		rs1228656789	.												A	4	1	7	54460419	54460419	G	A	1	0	0	0	0	0	1	0	0	6767	1095	38	1		1	GTSF1	12	54460419	Nonsense_Mutation	SNP	G	C3L-00080_TP	520840	54460419	78814890	506	2717											
RP11-644F5.10	0	.	GRCh38	chr12	55719173	55719173	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctgcccaatttgccaagCagacaggccagtggatcgga	11	6	13	11	1	0	1	0	0	0	1	1	3	0	3	3	4	3	2	3	4	2	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.301C>T	p.Gln101Ter	p.Q101*	ENST00000550412	3/4	603	424	179	381	381	0	strelka-varscan-mutect	RP11-644F5.10,stop_gained,p.Gln101Ter,ENST00000550412,;BLOC1S1,stop_gained,p.Gln101Ter,ENST00000549147,;BLOC1S1,stop_gained,p.Gln23Ter,ENST00000547076,;BLOC1S1,stop_gained,p.Gln101Ter,ENST00000548925,NM_001487.3;BLOC1S1,stop_gained,p.Gln23Ter,ENST00000551926,;BLOC1S1,stop_gained,p.Gln23Ter,ENST00000548556,;RP11-644F5.10,stop_gained,p.Gln23Ter,ENST00000549424,;RDH5,upstream_gene_variant,,ENST00000257895,NM_002905.3,NM_001199771.1;RDH5,upstream_gene_variant,,ENST00000548082,;RDH5,upstream_gene_variant,,ENST00000547072,;RDH5,upstream_gene_variant,,ENST00000552930,;RDH5,upstream_gene_variant,,ENST00000553160,;RP11-644F5.10,stop_gained,p.Gln93Ter,ENST00000257899,;RP11-644F5.10,3_prime_UTR_variant,,ENST00000551946,;BLOC1S1,3_prime_UTR_variant,,ENST00000553100,;RDH5,upstream_gene_variant,,ENST00000550608,;RDH5,upstream_gene_variant,,ENST00000551444,;RDH5,upstream_gene_variant,,ENST00000548486,;RDH5,upstream_gene_variant,,ENST00000553187,;RDH5,upstream_gene_variant,,ENST00000548123,;ITGA7,upstream_gene_variant,,ENST00000553737,;RDH5,upstream_gene_variant,,ENST00000547301,;ITGA7,upstream_gene_variant,,ENST00000553893,;ITGA7,upstream_gene_variant,,ENST00000556273,;	T	ENST00000550412	Transcript	stop_gained	317/3382	301/369	101/122	Q/*	Cag/Tag		1		1	RP11-644F5.10	Clone_based_vega_gene		protein_coding	YES		ENSP00000447650		F8W036	UPI0000D46D68				3/4		Pfam_domain:PF06320,hmmpanther:PTHR13073,hmmpanther:PTHR13073:SF1																	HIGH		SNV	2			1										PASS		rs1254700722	.												T	4	4	7	55719173	55719173	C	T	1	0	0	0	0	0	1	0	0	13755	711	25	3		3	RP11-644F5.10	12	55719173	Nonsense_Mutation	SNP	C	C3L-00080_TP	1258754	55719173	77556136	507	2718											
GDF11	0	.	GRCh38	chr12	55748923	55748923	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcatcgagatcaacgcCtttgatcccagtggcacaga	10	8	12	11	2	1	3	1	1	0	2	3	4	2	3	2	3	1	2	2	3	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.783C>A	p.=	p.A261A	ENST00000257868	2/3	131	81	50	68	68	0	strelka-varscan-mutect	GDF11,synonymous_variant,p.=,ENST00000257868,NM_005811.3;GDF11,synonymous_variant,p.=,ENST00000546799,;SARNP,downstream_gene_variant,,ENST00000546604,;SARNP,downstream_gene_variant,,ENST00000552884,;	A	ENST00000257868	Transcript	synonymous_variant	820/8657	783/1224	261/407	A	gcC/gcA		1		1	GDF11	HGNC	HGNC:4216	protein_coding	YES	CCDS8891.1	ENSP00000257868	O95390	A0A024RB20	UPI000004C158	NM_005811.3			2/3		hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF166,Pfam_domain:PF00688																	LOW	1	SNV	1			1										PASS		rs922930513	.												A	2	1	7	55748923	55748923	C	A	1	0	0	0	0	0	0	0	1	6185	668	24	2		2	GDF11	12	55748923	Silent	SNP	C	C3L-00080_TP	29750	55748923	77526386	508	2719											
SMARCC2	0	.	GRCh38	chr12	56169912	56169912	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctccttctcggggttcCtgaaattccagtgatagaaa	9	11	8	13	1	1	3	0	2	1	1	5	3	4	3	5	2	0	1	5	2	3	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2320-1G>A		p.X774_splice	ENST00000267064		233	207	26	145	145	0	strelka-varscan-mutect	SMARCC2,splice_acceptor_variant,,ENST00000394023,NM_001130420.1;SMARCC2,splice_acceptor_variant,,ENST00000550164,;SMARCC2,splice_acceptor_variant,,ENST00000267064,NM_003075.3;SMARCC2,splice_acceptor_variant,,ENST00000347471,NM_139067.2;RP11-977G19.5,intron_variant,,ENST00000553176,;SMARCC2,downstream_gene_variant,,ENST00000549209,;SMARCC2,splice_acceptor_variant,,ENST00000552674,;SMARCC2,downstream_gene_variant,,ENST00000548130,;SMARCC2,downstream_gene_variant,,ENST00000552931,;SMARCC2,downstream_gene_variant,,ENST00000552566,;	T	ENST00000267064	Transcript	splice_acceptor_variant	-/4076	2320/3645	774/1214				1		-1	SMARCC2	HGNC	HGNC:11105	protein_coding	YES	CCDS8907.1	ENSP00000267064	Q8TAQ2	A0A024RB22	UPI0000071C4E	NM_003075.3				22/27																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	7	56169912	56169912	C	T	1	0	0	0	0	0	0	1	0	15069	695	24	3		3	SMARCC2	12	56169912	Splice_Site	SNP	C	C3L-00080_TP	420989	56169912	77105397	509	2720											
LRP1	0	.	GRCh38	chr12	57185808	57185808	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgactaccgggcaggcacCtctccgggcacccccaatcg	7	7	10	17	3	1	1	0	1	1	0	3	1	1	1	5	3	1	3	5	3	2	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.6741C>G	p.=	p.T2247T	ENST00000243077	41/89	472	327	145	320	320	0	strelka-varscan-mutect	LRP1,synonymous_variant,p.=,ENST00000243077,NM_002332.2;LRP1,upstream_gene_variant,,ENST00000554118,;	G	ENST00000243077	Transcript	synonymous_variant	7207/14897	6741/13635	2247/4544	T	acC/acG		1		1	LRP1	HGNC	HGNC:6692	protein_coding	YES	CCDS8932.1	ENSP00000243077	Q07954		UPI00001B044F	NM_002332.2			41/89		Gene3D:2.120.10.30,Superfamily_domains:SSF63825																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	7	57185808	57185808	C	G	1	0	0	0	0	0	0	0	1	8846	668	24	4		4	LRP1	12	57185808	Silent	SNP	C	C3L-00080_TP	1015896	57185808	76089501	510	2721											
GLI1	0	.	GRCh38	chr12	57469680	57469680	+	Frame_Shift_Del	DEL	C	C	-																															ggacccggggtctcaaactgCccagcttgtcccacaccggt																								novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1560delC	p.Ser521AlafsTer92	p.S521Afs*92	ENST00000228682	11/12	195	136	59	175	175	0	sindel-varindel-pindel	GLI1,frameshift_variant,p.Ser521AlafsTer92,ENST00000228682,NM_005269.2;GLI1,frameshift_variant,p.Ser480AlafsTer92,ENST00000546141,NM_001167609.1;GLI1,frameshift_variant,p.Ser393AlafsTer92,ENST00000543426,NM_001160045.1;GLI1,frameshift_variant,p.Ser480AlafsTer92,ENST00000528467,;ARHGAP9,downstream_gene_variant,,ENST00000393797,NM_001319850.1;ARHGAP9,downstream_gene_variant,,ENST00000550288,;ARHGAP9,downstream_gene_variant,,ENST00000393791,NM_032496.2;ARHGAP9,downstream_gene_variant,,ENST00000424809,NM_001080157.1;ARHGAP9,downstream_gene_variant,,ENST00000430041,NM_001080156.1;GLI1,downstream_gene_variant,,ENST00000532291,;ARHGAP9,downstream_gene_variant,,ENST00000550399,;ARHGAP9,downstream_gene_variant,,ENST00000550130,;GLI1,downstream_gene_variant,,ENST00000528432,;ARHGAP9,downstream_gene_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000552953,;ARHGAP9,downstream_gene_variant,,ENST00000550440,;GLI1,downstream_gene_variant,,ENST00000527742,;ARHGAP9,downstream_gene_variant,,ENST00000546704,;GLI1,downstream_gene_variant,,ENST00000530789,;	-	ENST00000228682	Transcript	frameshift_variant	1649/3613	1558/3321	520/1106	P/X	Ccc/cc		1		1	GLI1	HGNC	HGNC:4317	protein_coding	YES	CCDS8940.1	ENSP00000228682	P08151		UPI000012B607	NM_005269.2			11/12		hmmpanther:PTHR19818:SF2,hmmpanther:PTHR19818																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	7	57469680	57469680	C	-	1	0	1	0	1	0	0	0	0	6315	739	26	0		0	GLI1	12	57469680	Frame_Shift_Del	DEL	C	C3L-00080_TP	283872	57469680	75805629	511	2722											
ARHGAP9	0	.	GRCh38	chr12	57477482	57477482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcgctgcgactgcggcgcgGgggcttccaggacttgcagc	4	7	16	14	5	0	0	0	0	0	0	2	2	1	1	1	4	4	3	1	4	0	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.733C>A	p.Pro245Thr	p.P245T	ENST00000393791	4/18	280	192	88	218	218	0	strelka-varscan-mutect	ARHGAP9,missense_variant,p.Pro316Thr,ENST00000393797,NM_001319850.1;ARHGAP9,missense_variant,p.Pro324Thr,ENST00000550288,;ARHGAP9,missense_variant,p.Pro245Thr,ENST00000393791,NM_032496.2;ARHGAP9,missense_variant,p.Pro245Thr,ENST00000424809,NM_001080157.1;ARHGAP9,missense_variant,p.Pro61Thr,ENST00000430041,NM_001080156.1;ARHGAP9,missense_variant,p.Pro61Thr,ENST00000548139,;ARHGAP9,missense_variant,p.Pro61Thr,ENST00000552066,;ARHGAP9,missense_variant,p.Pro61Thr,ENST00000552604,;ARHGAP9,missense_variant,p.Pro61Thr,ENST00000549602,;ARHGAP9,missense_variant,p.Pro98Thr,ENST00000551452,;ARHGAP9,upstream_gene_variant,,ENST00000550399,;ARHGAP9,downstream_gene_variant,,ENST00000552249,;ARHGAP9,upstream_gene_variant,,ENST00000550130,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000550454,;MARS,intron_variant,,ENST00000549133,;ARHGAP9,upstream_gene_variant,,ENST00000547200,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000546200,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000552420,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000548148,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000547216,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000551000,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000551574,;ARHGAP9,upstream_gene_variant,,ENST00000552953,;ARHGAP9,upstream_gene_variant,,ENST00000550440,;ARHGAP9,upstream_gene_variant,,ENST00000546704,;	T	ENST00000393791	Transcript	missense_variant	872/2597	733/2196	245/731	P/T	Ccg/Acg		1		-1	ARHGAP9	HGNC	HGNC:14130	protein_coding	YES	CCDS8941.2	ENSP00000377380	Q9BRR9		UPI000007131B	NM_032496.2	deleterious(0)		4/18		PROSITE_profiles:PS50020,hmmpanther:PTHR23181:SF4,hmmpanther:PTHR23181,Gene3D:2.20.70.10,Superfamily_domains:SSF51045																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	57477482	57477482	G	T	1	0	0	0	0	1	0	0	0	1019	1232	43	2		2	ARHGAP9	12	57477482	Missense_Mutation	SNP	G	C3L-00080_TP	7802	57477482	75797827	512	2723											
ARHGAP9	0	.	GRCh38	chr12	57479136	57479136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgacggtagttggactctGggaagggatggattcctcta	9	11	15	6	1	2	1	0	1	2	0	3	6	3	5	1	5	0	2	1	5	3	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.271C>A	p.Gln91Lys	p.Q91K	ENST00000393791	2/18	291	183	108	210	210	0	strelka-varscan-mutect	ARHGAP9,missense_variant,p.Gln162Lys,ENST00000393797,NM_001319850.1;ARHGAP9,missense_variant,p.Gln170Lys,ENST00000550288,;ARHGAP9,missense_variant,p.Gln91Lys,ENST00000393791,NM_032496.2;ARHGAP9,missense_variant,p.Gln91Lys,ENST00000424809,NM_001080157.1;ARHGAP9,missense_variant,p.Gln9Lys,ENST00000552249,;ARHGAP9,upstream_gene_variant,,ENST00000430041,NM_001080156.1;ARHGAP9,upstream_gene_variant,,ENST00000548139,;ARHGAP9,upstream_gene_variant,,ENST00000550399,;ARHGAP9,upstream_gene_variant,,ENST00000552066,;ARHGAP9,upstream_gene_variant,,ENST00000552604,;ARHGAP9,upstream_gene_variant,,ENST00000549602,;ARHGAP9,upstream_gene_variant,,ENST00000551452,;ARHGAP9,upstream_gene_variant,,ENST00000550130,;MARS,intron_variant,,ENST00000549133,;ARHGAP9,upstream_gene_variant,,ENST00000550454,;ARHGAP9,upstream_gene_variant,,ENST00000547200,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000552420,;ARHGAP9,upstream_gene_variant,,ENST00000546200,;ARHGAP9,upstream_gene_variant,,ENST00000552953,;ARHGAP9,upstream_gene_variant,,ENST00000548148,;ARHGAP9,upstream_gene_variant,,ENST00000550440,;ARHGAP9,upstream_gene_variant,,ENST00000547216,;ARHGAP9,upstream_gene_variant,,ENST00000546704,;ARHGAP9,upstream_gene_variant,,ENST00000551000,;ARHGAP9,upstream_gene_variant,,ENST00000551574,;	T	ENST00000393791	Transcript	missense_variant	410/2597	271/2196	91/731	Q/K	Cag/Aag		1		-1	ARHGAP9	HGNC	HGNC:14130	protein_coding	YES	CCDS8941.2	ENSP00000377380	Q9BRR9		UPI000007131B	NM_032496.2	tolerated(1)		2/18		hmmpanther:PTHR23181:SF4,hmmpanther:PTHR23181,Gene3D:2.30.30.40,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	57479136	57479136	G	T	1	0	0	0	0	1	0	0	0	1019	1357	47	2		2	ARHGAP9	12	57479136	Missense_Mutation	SNP	G	C3L-00080_TP	1654	57479136	75796173	513	2724											
LRIG3	0	.	GRCh38	chr12	58880628	58880628	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaggatgaaccaaagtgaTtggagatgacacactgatat	16	9	11	5	0	0	5	0	4	0	1	0	7	0	6	1	2	1	1	1	2	4	3	rs200549484		C3L-00080_TP	C3L-00080_NB	T	T																c.1754A>T	p.Asn585Ile	p.N585I	ENST00000320743	13/19	265	215	50	156	156	0	strelka-varscan-mutect	LRIG3,missense_variant,p.Asn585Ile,ENST00000320743,NM_153377.4;LRIG3,missense_variant,p.Asn525Ile,ENST00000379141,NM_001136051.2;LRIG3,missense_variant,p.Asn585Ile,ENST00000433272,;LRIG3,non_coding_transcript_exon_variant,,ENST00000547329,;LRIG3,upstream_gene_variant,,ENST00000552646,;	A	ENST00000320743	Transcript	missense_variant	2041/4070	1754/3360	585/1119	N/I	aAt/aTt	rs200549484	1		-1	LRIG3	HGNC	HGNC:30991	protein_coding	YES	CCDS8960.1	ENSP00000326759	Q6UXM1		UPI0000035BB5	NM_153377.4	deleterious(0.01)		13/19		PROSITE_profiles:PS50835,hmmpanther:PTHR24367:SF242,hmmpanther:PTHR24367,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs200549484	.												A	3	1	7	58880628	58880628	T	A	1	0	0	0	0	1	0	0	0	8841	1493	52	4		4	LRIG3	12	58880628	Missense_Mutation	SNP	T	C3L-00080_TP	1401492	58880628	74394681	514	2725											
XPOT	0	.	GRCh38	chr12	64430121	64430121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacagctggagtgctgattGttaatagtgaatatccggca	12	11	12	6	1	0	3	0	2	0	1	1	4	1	4	1	2	2	4	1	2	4	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1810G>T	p.Val604Phe	p.V604F	ENST00000332707	17/25	171	98	73	125	125	0	strelka-varscan-mutect	XPOT,missense_variant,p.Val604Phe,ENST00000332707,NM_007235.4;XPOT,3_prime_UTR_variant,,ENST00000538086,;XPOT,non_coding_transcript_exon_variant,,ENST00000542958,;XPOT,non_coding_transcript_exon_variant,,ENST00000541842,;	T	ENST00000332707	Transcript	missense_variant	2339/6414	1810/2889	604/962	V/F	Gtt/Ttt		1		1	XPOT	HGNC	HGNC:12826	protein_coding	YES	CCDS31852.1	ENSP00000327821	O43592		UPI0000161BA5	NM_007235.4	deleterious(0)		17/25		Gene3D:1.25.10.10,hmmpanther:PTHR15952,Superfamily_domains:SSF48371																	MODERATE	1	SNV	2			1										PASS		rs957698124	.												T	3	4	7	64430121	64430121	G	T	1	0	0	0	0	1	0	0	0	18009	1377	48	2		2	XPOT	12	64430121	Missense_Mutation	SNP	G	C3L-00080_TP	5549493	64430121	68845188	515	2726											
CPM	0	.	GRCh38	chr12	68856461	68856481	+	In_Frame_Del	DEL	ACTCACTAAAAATAAGAACAA	ACTCACTAAAAATAAGAACAA	-																															ttgaagaatatgtgcaaaagActcactaaaaataagaacaa																								novel		C3L-00080_TP	C3L-00080_NB	ACTCACTAAAAATAAGAACAA	ACTCACTAAAAATAAGAACAA																c.1288_1308delTTGTTCTTATTTTTAGTGAGT	p.Phe431_Leu437del	p.F431_L437del	ENST00000551568	9/9	267	220	47	153	153	0	sindel-varindel-pindel	CPM,inframe_deletion,p.Phe431_Leu437del,ENST00000551568,NM_001005502.2,NM_198320.3;CPM,inframe_deletion,p.Phe431_Leu437del,ENST00000338356,;CPM,inframe_deletion,p.Phe431_Leu437del,ENST00000546373,NM_001874.4;CPM,intron_variant,,ENST00000551897,;CPM,inframe_deletion,p.Phe23_Leu29del,ENST00000546556,;	-	ENST00000551568	Transcript	inframe_deletion	1349-1369/6655	1288-1308/1332	430-436/443	LFLFLVS/-	TTGTTCTTATTTTTAGTGAGT/-		1		-1	CPM	HGNC	HGNC:2311	protein_coding	YES	CCDS8987.1	ENSP00000448517	P14384		UPI00001271D4	NM_001005502.2,NM_198320.3			9/9																			MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	7	68856461	68856461	ACTCACTAAAAATAAGAACAA	-	1	0	1	0	1	0	0	0	0	3603	272	10	0		0	CPM	12	68856461	In_Frame_Del	DEL	ACTCACTAAAAATAAGAACAA	C3L-00080_TP	4426340	68856461	64418848	516	2727											
PTPRB	0	.	GRCh38	chr12	70536092	70536092	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttcccacaccattttcCagaagtcatccttggtgcca	8	14	6	13	0	1	1	1	0	0	1	4	1	4	1	5	1	1	1	5	1	1	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.6014G>T	p.Trp2005Leu	p.W2005L	ENST00000334414	29/34	364	290	74	187	187	0	strelka-varscan-mutect	PTPRB,missense_variant,p.Trp2005Leu,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Trp1917Leu,ENST00000550358,;PTPRB,missense_variant,p.Trp1787Leu,ENST00000261266,NM_002837.4;PTPRB,missense_variant,p.Trp1697Leu,ENST00000538708,NM_001206972.1;PTPRB,missense_variant,p.Trp1697Leu,ENST00000550857,NM_001206971.1;RP11-588H23.3,intron_variant,,ENST00000548687,;RP11-588H23.3,intron_variant,,ENST00000546836,;RP11-588H23.3,intron_variant,,ENST00000551438,;RP11-588H23.3,intron_variant,,ENST00000549460,;RP11-588H23.3,intron_variant,,ENST00000547656,;PTPRB,downstream_gene_variant,,ENST00000549400,;	A	ENST00000334414	Transcript	missense_variant	6059/12316	6014/6648	2005/2215	W/L	tGg/tTg		1		-1	PTPRB	HGNC	HGNC:9665	protein_coding	YES	CCDS44943.1	ENSP00000334928	P23467		UPI00002294FA	NM_001109754.2	deleterious(0)		29/34		PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF288,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799,Prints_domain:PR00700																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	70536092	70536092	C	A	1	0	0	0	0	1	0	0	0	12950	595	21	2		2	PTPRB	12	70536092	Missense_Mutation	SNP	C	C3L-00080_TP	1679631	70536092	62739217	517	2728											
PTPRB	0	.	GRCh38	chr12	70556146	70556146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggttttgtatcttgtcagGctctaaaggaaacagaggag	12	11	12	6	0	3	1	1	0	2	1	3	3	3	3	0	4	1	3	0	4	4	5	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.4717C>A	p.Pro1573Thr	p.P1573T	ENST00000334414	19/34	171	76	95	113	113	0	strelka-varscan-mutect	PTPRB,missense_variant,p.Pro1573Thr,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Pro1485Thr,ENST00000550358,;PTPRB,missense_variant,p.Pro1355Thr,ENST00000261266,NM_002837.4;PTPRB,missense_variant,p.Pro1265Thr,ENST00000538708,NM_001206972.1;PTPRB,missense_variant,p.Pro1265Thr,ENST00000550857,NM_001206971.1;PTPRB,downstream_gene_variant,,ENST00000551525,;PTPRB,downstream_gene_variant,,ENST00000548122,;	T	ENST00000334414	Transcript	missense_variant,splice_region_variant	4762/12316	4717/6648	1573/2215	P/T	Cct/Act		1		-1	PTPRB	HGNC	HGNC:9665	protein_coding	YES	CCDS44943.1	ENSP00000334928	P23467		UPI00002294FA	NM_001109754.2	deleterious(0)		19/34		PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF288,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	70556146	70556146	G	T	1	0	0	0	0	1	0	0	0	12950	1217	42	2		2	PTPRB	12	70556146	Missense_Mutation	SNP	G	C3L-00080_TP	20054	70556146	62719163	518	2729											
ZFC3H1	0	.	GRCh38	chr12	71620300	71620300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaggctctcatctgtgCaagctttcactgcatctacc	9	11	7	14	0	4	0	2	0	3	0	5	0	4	0	1	1	5	5	1	1	3	2			C3L-00080_TP	C3L-00080_NB	C	C																c.4760G>T	p.Cys1587Phe	p.C1587F	ENST00000378743	25/35	380	304	76	202	202	0	strelka-varscan-mutect	ZFC3H1,missense_variant,p.Cys1587Phe,ENST00000378743,NM_144982.4;ZFC3H1,missense_variant,p.Cys1587Phe,ENST00000552994,;ZFC3H1,upstream_gene_variant,,ENST00000546771,;	A	ENST00000378743	Transcript	missense_variant	5119/7285	4760/5970	1587/1989	C/F	tGc/tTc	COSM5280117	1		-1	ZFC3H1	HGNC	HGNC:28328	protein_coding	YES	CCDS41813.1	ENSP00000368017	O60293		UPI00003668E9	NM_144982.4	deleterious(0)		25/35		hmmpanther:PTHR21563,Superfamily_domains:SSF48452											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	7	71620300	71620300	C	A	1	0	0	0	0	1	0	0	0	18210	710	25	2		2	ZFC3H1	12	71620300	Missense_Mutation	SNP	C	C3L-00080_TP	1064154	71620300	61655009	519	2730											
TBC1D15	0	.	GRCh38	chr12	71920748	71920748	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggtaatgtggaccgaactAccatgtacaaatttccatct	13	12	7	9	1	1	0	0	0	1	0	2	2	2	1	3	2	3	2	3	2	6	5	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.1668A>T	p.=	p.L556L	ENST00000550746	16/18	320	296	24	302	302	0	strelka-varscan-mutect	TBC1D15,synonymous_variant,p.=,ENST00000550746,NM_022771.4;TBC1D15,synonymous_variant,p.=,ENST00000485960,NM_001146213.1;TBC1D15,synonymous_variant,p.=,ENST00000319106,NM_001146214.1;TBC1D15,downstream_gene_variant,,ENST00000548679,;TBC1D15,3_prime_UTR_variant,,ENST00000462788,;TBC1D15,non_coding_transcript_exon_variant,,ENST00000546450,;TBC1D15,downstream_gene_variant,,ENST00000483828,;	T	ENST00000550746	Transcript	synonymous_variant	1732/6184	1668/2076	556/691	L	ctA/ctT		1		1	TBC1D15	HGNC	HGNC:25694	protein_coding	YES	CCDS31858.1	ENSP00000448182	Q8TC07		UPI000049DD7C	NM_022771.4			16/18		PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF300,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	71920748	71920748	A	T	1	0	0	0	0	0	0	0	1	16004	378	14	4		4	TBC1D15	12	71920748	Silent	SNP	A	C3L-00080_TP	300448	71920748	61354561	520	2731											
NAV3	0	.	GRCh38	chr12	77831672	77831672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagagaagaaacccctcCaaggaaaagccaaggagaaa	19	3	11	8	0	0	3	0	0	0	3	1	7	1	5	4	3	2	0	4	3	7	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.211C>A	p.Gln71Lys	p.Q71K	ENST00000397909	1/40	157	75	82	95	95	0	strelka-varscan-mutect	NAV3,missense_variant,p.Gln71Lys,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Gln71Lys,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Gln71Lys,ENST00000549464,;NAV3,intron_variant,,ENST00000550042,;	A	ENST00000397909	Transcript	missense_variant	384/9821	211/7158	71/2385	Q/K	Caa/Aaa		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	tolerated_low_confidence(0.31)		1/40		Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	77831672	77831672	C	A	1	0	0	0	0	1	0	0	0	10194	595	21	2		2	NAV3	12	77831672	Missense_Mutation	SNP	C	C3L-00080_TP	5910924	77831672	55443637	521	2732											
NAV3	0	.	GRCh38	chr12	78159276	78159276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagtctaactatgacagCggaacaaaaggtatgttcag	16	8	10	7	1	2	1	1	1	1	0	2	2	2	2	0	2	3	3	0	2	7	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.4859C>T	p.Ala1620Val	p.A1620V	ENST00000397909	23/40	163	151	12	113	113	0	strelka-varscan-mutect	NAV3,missense_variant,p.Ala1620Val,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Ala1620Val,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Ala515Val,ENST00000552895,;NAV3,missense_variant,p.Ala249Val,ENST00000550788,;	T	ENST00000397909	Transcript	missense_variant	5032/9821	4859/7158	1620/2385	A/V	gCg/gTg		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	deleterious(0)		23/40		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	MODERATE	1	SNV	1			1										PASS		rs1184879413	.												T	3	4	7	78159276	78159276	C	T	1	0	0	0	0	1	0	0	0	10194	768	27	1		1	NAV3	12	78159276	Missense_Mutation	SNP	C	C3L-00080_TP	327604	78159276	55116033	522	2733											
PTPRQ	0	.	GRCh38	chr12	80669450	80669450	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagattggactatcagggatCtgaaaattgaaagggtaaaa	17	10	11	3	0	2	3	1	2	1	1	2	5	2	5	0	3	0	1	0	3	7	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.6439C>T	p.=	p.L2147L	ENST00000614701	41/45	158	141	17	123	123	0	strelka-varscan-mutect	PTPRQ,synonymous_variant,p.=,ENST00000614701,NM_001145026.1;PTPRQ,synonymous_variant,p.=,ENST00000616559,;	T	ENST00000614701	Transcript	synonymous_variant	6617/8289	6439/6900	2147/2299	L	Ctg/Ttg		1		1	PTPRQ	HGNC	HGNC:9679	protein_coding	YES	CCDS73501.1	ENSP00000482885		A0A087WZU1	UPI000192953C	NM_001145026.1			41/45		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,SMART_domains:SM00194,Superfamily_domains:SSF52799																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	7	80669450	80669450	C	T	1	0	0	0	0	0	0	0	1	12964	912	32	3		3	PTPRQ	12	80669450	Silent	SNP	C	C3L-00080_TP	2510174	80669450	52605859	523	2734											
PPFIA2	0	.	GRCh38	chr12	81353313	81353313	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccaatctgttgagttctattCcactcgtgatccccaagaga	10	12	7	12	1	2	3	0	2	2	1	5	4	4	3	4	0	0	2	4	0	3	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1800G>C	p.Trp600Cys	p.W600C	ENST00000549396	17/33	314	279	35	223	223	0	strelka-varscan-mutect	PPFIA2,missense_variant,p.Trp501Cys,ENST00000333447,NM_001220478.2;PPFIA2,missense_variant,p.Trp600Cys,ENST00000550584,NM_001220473.2;PPFIA2,missense_variant,p.Trp600Cys,ENST00000549396,NM_003625.4;PPFIA2,missense_variant,p.Trp582Cys,ENST00000549325,NM_001220474.2;PPFIA2,missense_variant,p.Trp600Cys,ENST00000548586,NM_001220476.2;PPFIA2,missense_variant,p.Trp600Cys,ENST00000552948,NM_001220475.2;PPFIA2,missense_variant,p.Trp526Cys,ENST00000407050,NM_001220477.2;PPFIA2,missense_variant,p.Trp447Cys,ENST00000550359,NM_001282536.1;PPFIA2,missense_variant,p.Trp501Cys,ENST00000443686,;PPFIA2,missense_variant,p.Trp167Cys,ENST00000541570,NM_001220479.2;PPFIA2,missense_variant,p.Trp181Cys,ENST00000553058,;PPFIA2,5_prime_UTR_variant,,ENST00000541017,NM_001220480.2;PPFIA2,downstream_gene_variant,,ENST00000548670,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,upstream_gene_variant,,ENST00000549917,;PPFIA2,3_prime_UTR_variant,,ENST00000551461,;	G	ENST00000549396	Transcript	missense_variant	1961/5363	1800/3774	600/1257	W/C	tgG/tgC		1		-1	PPFIA2	HGNC	HGNC:9246	protein_coding	YES	CCDS55857.1	ENSP00000450337	O75334		UPI0000168655	NM_003625.4	deleterious(0.01)		17/33		hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	81353313	81353313	C	G	1	0	0	0	0	1	0	0	0	12419	856	30	4		4	PPFIA2	12	81353313	Missense_Mutation	SNP	C	C3L-00080_TP	683863	81353313	51921996	524	2735											
PPFIA2	0	.	GRCh38	chr12	81445641	81445641	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatactcctgagggagacTgggcttgccgttttaccacc	7	11	12	11	1	0	2	0	1	0	1	1	4	1	3	4	3	3	2	4	3	2	4	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.485A>C	p.Gln162Pro	p.Q162P	ENST00000549396	6/33	321	298	23	175	175	0	strelka-varscan-mutect	PPFIA2,missense_variant,p.Gln88Pro,ENST00000333447,NM_001220478.2;PPFIA2,missense_variant,p.Gln162Pro,ENST00000550584,NM_001220473.2;PPFIA2,missense_variant,p.Gln162Pro,ENST00000549396,NM_003625.4;PPFIA2,missense_variant,p.Gln144Pro,ENST00000549325,NM_001220474.2;PPFIA2,missense_variant,p.Gln162Pro,ENST00000548586,NM_001220476.2;PPFIA2,missense_variant,p.Gln162Pro,ENST00000552948,NM_001220475.2;PPFIA2,missense_variant,p.Gln88Pro,ENST00000407050,NM_001220477.2;PPFIA2,missense_variant,p.Gln9Pro,ENST00000550359,NM_001282536.1;PPFIA2,missense_variant,p.Gln88Pro,ENST00000443686,;PPFIA2,missense_variant,p.Gln144Pro,ENST00000551442,;PPFIA2,upstream_gene_variant,,ENST00000548790,;RP11-315E17.1,intron_variant,,ENST00000550272,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000545296,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000548453,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000552020,;	G	ENST00000549396	Transcript	missense_variant	646/5363	485/3774	162/1257	Q/P	cAg/cCg		1		-1	PPFIA2	HGNC	HGNC:9246	protein_coding	YES	CCDS55857.1	ENSP00000450337	O75334		UPI0000168655	NM_003625.4	tolerated(0.08)		6/33		hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587																	MODERATE	1	SNV	1			1										PASS		rs1322961143	.												G	3	3	7	81445641	81445641	T	G	1	0	0	0	0	1	0	0	0	12419	1580	55	5		5	PPFIA2	12	81445641	Missense_Mutation	SNP	T	C3L-00080_TP	92328	81445641	51829668	525	2736											
C12orf50	0	.	GRCh38	chr12	87998182	87998182	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgaatttctttctgtaGtgtgatatctgcagagaaaa	11	16	8	6	0	3	3	0	2	3	1	4	4	4	3	1	0	1	2	1	0	5	5	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.142C>T	p.=	p.L48L	ENST00000298699	4/13	136	81	55	118	118	0	strelka-varscan-mutect	C12orf50,synonymous_variant,p.=,ENST00000298699,NM_152589.1;C12orf50,synonymous_variant,p.=,ENST00000550553,;C12orf50,synonymous_variant,p.=,ENST00000551163,;C12orf50,non_coding_transcript_exon_variant,,ENST00000551944,;	A	ENST00000298699	Transcript	synonymous_variant	323/1722	142/1245	48/414	L	Cta/Tta		1		-1	C12orf50	HGNC	HGNC:26665	protein_coding	YES	CCDS9031.1	ENSP00000298699	Q8NA57		UPI0000071382	NM_152589.1			4/13		hmmpanther:PTHR15725:SF1,hmmpanther:PTHR15725,Pfam_domain:PF15663																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	7	87998182	87998182	G	A	1	0	0	0	0	0	0	0	1	1814	1020	36	3		3	C12orf50	12	87998182	Silent	SNP	G	C3L-00080_TP	6552541	87998182	45277127	526	2737											
IKBIP	0	.	GRCh38	chr12	98644636	98644636	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcccgccctcgctccgCttcccgggctccgcagcagg	2	8	11	20	5	1	0	0	0	1	0	6	0	5	0	5	2	1	5	5	2	0	2	rs763887899		C3L-00080_TP	C3L-00080_NB	C	C																c.66G>T	p.Lys22Asn	p.K22N	ENST00000299157	1/3	297	195	102	177	177	0	strelka-varscan-mutect	IKBIP,missense_variant,p.Lys22Asn,ENST00000299157,NM_153687.3;IKBIP,missense_variant,p.Lys22Asn,ENST00000342502,NM_201612.2;IKBIP,missense_variant,p.Lys22Asn,ENST00000393042,NM_201613.2;APAF1,upstream_gene_variant,,ENST00000357310,NM_181868.1;APAF1,upstream_gene_variant,,ENST00000359972,NM_001160.2;APAF1,upstream_gene_variant,,ENST00000550527,NM_013229.2;APAF1,upstream_gene_variant,,ENST00000551964,NM_181861.1;APAF1,upstream_gene_variant,,ENST00000333991,NM_181869.1;APAF1,upstream_gene_variant,,ENST00000547045,;APAF1,upstream_gene_variant,,ENST00000549007,;APAF1,upstream_gene_variant,,ENST00000552268,;APAF1,upstream_gene_variant,,ENST00000547743,;	A	ENST00000299157	Transcript	missense_variant	440/3189	66/1134	22/377	K/N	aaG/aaT	rs763887899	1		-1	IKBIP	HGNC	HGNC:26430	protein_coding	YES	CCDS9068.1	ENSP00000299157	Q70UQ0		UPI0000070C12	NM_153687.3	deleterious(0.01)		1/3		hmmpanther:PTHR21734:SF11,hmmpanther:PTHR21734																	MODERATE	1	SNV	1			1										PASS		rs763887899	.												A	3	1	7	98644636	98644636	C	A	1	0	0	0	0	1	0	0	0	7517	796	28	2		2	IKBIP	12	98644636	Missense_Mutation	SNP	C	C3L-00080_TP	10646454	98644636	34630673	527	2738											
ANO4	0	.	GRCh38	chr12	101020140	101020140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggaaaaaacaagattGgtaagtagtatgttagtata	20	10	10	1	0	0	2	0	0	0	2	0	3	0	3	0	2	1	5	0	2	12	7			C3L-00080_TP	C3L-00080_NB	G	G																c.841G>T	p.Gly281Cys	p.G281C	ENST00000392977	9/28	113	99	14	104	104	0	strelka-varscan-mutect	ANO4,missense_variant,p.Gly246Cys,ENST00000392979,NM_178826.3;ANO4,missense_variant,p.Gly281Cys,ENST00000392977,NM_001286615.1,NM_001286616.1;ANO4,splice_region_variant,,ENST00000549234,;ANO4,downstream_gene_variant,,ENST00000549155,;	T	ENST00000392977	Transcript	missense_variant,splice_region_variant	1051/3509	841/2868	281/955	G/C	Ggt/Tgt	COSM1582986	1		1	ANO4	HGNC	HGNC:23837	protein_coding	YES	CCDS66445.1	ENSP00000376703	Q32M45		UPI0000577AB6	NM_001286615.1,NM_001286616.1	deleterious(0)		9/28		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Pfam_domain:PF16178											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	7	101020140	101020140	G	T	1	0	0	0	0	1	0	0	0	806	1362	47	2		2	ANO4	12	101020140	Missense_Mutation	SNP	G	C3L-00080_TP	2375504	101020140	32255169	528	2739											
ANO4	0	.	GRCh38	chr12	101116776	101116776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgatggcagtgagttctcgGggactcctcttaagtactgc	7	12	12	10	1	2	2	0	2	2	0	4	3	3	3	1	3	2	3	1	3	2	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2548G>C	p.Gly850Arg	p.G850R	ENST00000392977	25/28	407	245	162	220	220	0	strelka-varscan-mutect	ANO4,missense_variant,p.Gly815Arg,ENST00000392979,NM_178826.3;ANO4,missense_variant,p.Gly850Arg,ENST00000392977,NM_001286615.1,NM_001286616.1;ANO4,missense_variant,p.Gly370Arg,ENST00000550015,;	C	ENST00000392977	Transcript	missense_variant	2758/3509	2548/2868	850/955	G/R	Ggg/Cgg		1		1	ANO4	HGNC	HGNC:23837	protein_coding	YES	CCDS66445.1	ENSP00000376703	Q32M45		UPI0000577AB6	NM_001286615.1,NM_001286616.1	tolerated(0.14)		25/28		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Pfam_domain:PF04547																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	7	101116776	101116776	G	C	1	0	0	0	0	1	0	0	0	806	1232	43	4		4	ANO4	12	101116776	Missense_Mutation	SNP	G	C3L-00080_TP	96636	101116776	32158533	529	2740											
CMKLR1	0	.	GRCh38	chr12	108291964	108291965	+	Frame_Shift_Del	DEL	GC	GC	-																															tcacttagagcattgaccagGcgagagaagagggccacctt																								novel		C3L-00080_TP	C3L-00080_NB	GC	GC																c.998_999delGC	p.Arg333ProfsTer7	p.R333Pfs*7	ENST00000312143	3/3	256	230	26	181	181	0	sindel-varindel-pindel	CMKLR1,frameshift_variant,p.Arg333ProfsTer7,ENST00000312143,NM_001142344.1;CMKLR1,frameshift_variant,p.Arg333ProfsTer7,ENST00000412676,NM_001142345.1;CMKLR1,frameshift_variant,p.Arg333ProfsTer7,ENST00000550402,NM_001142343.1;CMKLR1,frameshift_variant,p.Arg331ProfsTer7,ENST00000552995,NM_004072.2;CMKLR1,downstream_gene_variant,,ENST00000550573,;CMKLR1,downstream_gene_variant,,ENST00000549466,;	-	ENST00000312143	Transcript	frameshift_variant	1362-1363/5283	998-999/1122	333/373	R/X	cGC/c		1		-1	CMKLR1	HGNC	HGNC:2121	protein_coding	YES	CCDS44965.1	ENSP00000311733	Q99788		UPI0000127BD4	NM_001142344.1			3/3		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF696,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01126																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	7	108291964	108291964	GC	-	1	0	1	0	1	0	0	0	0	3354	1190	42	0		0	CMKLR1	12	108291964	Frame_Shift_Del	DEL	GC	C3L-00080_TP	7175188	108291964	24983345	530	2741											
SELPLG	0	.	GRCh38	chr12	108623317	108623317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacacgaagaagatagtggCcaccagcgccaagattagga	15	4	12	10	2	0	3	0	0	0	3	0	5	0	4	3	2	1	1	3	2	5	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1039G>T	p.Ala347Ser	p.A347S	ENST00000228463	2/2	272	160	112	198	198	0	strelka-varscan-mutect	SELPLG,missense_variant,p.Ala331Ser,ENST00000550948,NM_003006.4;SELPLG,missense_variant,p.Ala347Ser,ENST00000228463,NM_001206609.1;SELPLG,missense_variant,p.Ala321Ser,ENST00000388962,;	A	ENST00000228463	Transcript	missense_variant	1216/1704	1039/1287	347/428	A/S	Gcc/Tcc		1		-1	SELPLG	HGNC	HGNC:10722	protein_coding	YES	CCDS55881.1	ENSP00000228463	Q14242		UPI0002065776	NM_001206609.1	deleterious(0.01)		2/2		hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	7	108623317	108623317	C	A	1	0	0	0	0	1	0	0	0	14297	739	26	2		2	SELPLG	12	108623317	Missense_Mutation	SNP	C	C3L-00080_TP	331353	108623317	24651992	531	2742											
CUX2	0	.	GRCh38	chr12	111293449	111293449	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttctccctgcagagcAgagagaggggacgtcgcctg	7	10	13	11	2	2	3	0	0	2	3	4	5	2	4	2	2	2	2	2	2	0	2	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.440A>G	p.Gln147Arg	p.Q147R	ENST00000261726	6/22	147	88	59	109	109	0	strelka-varscan-mutect	CUX2,missense_variant,p.Gln147Arg,ENST00000261726,NM_015267.3;CUX2,missense_variant,p.Gln207Arg,ENST00000397643,;	G	ENST00000261726	Transcript	missense_variant	594/6844	440/4461	147/1486	Q/R	cAg/cGg		1		1	CUX2	HGNC	HGNC:19347	protein_coding	YES	CCDS41837.1	ENSP00000261726	O14529		UPI00001FBB07	NM_015267.3	tolerated(0.14)		6/22		hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	111293449	111293449	A	G	1	0	0	0	0	1	0	0	0	3875	202	7	5		5	CUX2	12	111293449	Missense_Mutation	SNP	A	C3L-00080_TP	2670132	111293449	21981860	532	2743											
CUX2	0	.	GRCh38	chr12	111320094	111320094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggaggacgccatcaagagCatcctggagcaggcacgccg	10	4	14	13	4	1	1	1	0	0	1	3	4	2	4	3	4	2	3	3	4	1	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2085C>A	p.Ser695Arg	p.S695R	ENST00000261726	17/22	181	148	33	111	111	0	strelka-varscan-mutect	CUX2,missense_variant,p.Ser695Arg,ENST00000261726,NM_015267.3;	A	ENST00000261726	Transcript	missense_variant	2239/6844	2085/4461	695/1486	S/R	agC/agA		1		1	CUX2	HGNC	HGNC:19347	protein_coding	YES	CCDS41837.1	ENSP00000261726	O14529		UPI00001FBB07	NM_015267.3	deleterious(0.01)		17/22		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	111320094	111320094	C	A	1	0	0	0	0	1	0	0	0	3875	709	25	2		2	CUX2	12	111320094	Missense_Mutation	SNP	C	C3L-00080_TP	26645	111320094	21955215	533	2744											
HECTD4	0	.	GRCh38	chr12	112251096	112251096	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctaaagccaggtctacCagaaagggcaagcctcctga	14	5	10	12	0	1	3	0	1	1	2	2	3	2	3	5	2	3	1	5	2	5	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.3585G>T	p.=	p.L1195L	ENST00000377560	24/76	273	164	109	152	152	0	strelka-varscan-mutect	HECTD4,synonymous_variant,p.=,ENST00000377560,;HECTD4,synonymous_variant,p.=,ENST00000550722,NM_001109662.3;HECTD4,non_coding_transcript_exon_variant,,ENST00000311694,;	A	ENST00000377560	Transcript	synonymous_variant	3896/15759	3585/13251	1195/4416	L	ctG/ctT		1		-1	HECTD4	HGNC	HGNC:26611	protein_coding	YES		ENSP00000366783		J3KPF0	UPI000387D324				24/76																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	7	112251096	112251096	C	A	1	0	0	0	0	0	0	0	1	6923	581	21	2		2	HECTD4	12	112251096	Silent	SNP	C	C3L-00080_TP	931002	112251096	21024213	534	2745											
TBX3	0	.	GRCh38	chr12	114680963	114680963	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccactgttccccagtagcGgggctgtccgggtgaatgta	7	10	13	11	2	0	1	0	1	0	0	3	1	3	1	4	3	1	4	4	3	3	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.573C>T	p.=	p.P191P	ENST00000257566	2/8	855	762	93	545	545	0	strelka-varscan-mutect	TBX3,synonymous_variant,p.=,ENST00000349155,NM_005996.3;TBX3,synonymous_variant,p.=,ENST00000257566,NM_016569.3;TBX3,non_coding_transcript_exon_variant,,ENST00000552054,;TBX3,upstream_gene_variant,,ENST00000548503,;	A	ENST00000257566	Transcript	synonymous_variant	963/4208	573/2232	191/743	P	ccC/ccT		1		-1	TBX3	HGNC	HGNC:11602	protein_coding	YES	CCDS9176.1	ENSP00000257566	O15119	A0A024RBL6	UPI0000136AA0	NM_016569.3			2/8		PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF91,PROSITE_patterns:PS01264,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	114680963	114680963	G	A	1	0	0	0	0	0	0	0	1	16064	1103	39	1		1	TBX3	12	114680963	Silent	SNP	G	C3L-00080_TP	2429867	114680963	18594346	535	2746											
CCDC60	0	.	GRCh38	chr12	119488764	119488764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctctgtctttgcagcgagcCcctcttccgccagctctgtg	3	13	9	16	2	4	0	0	0	4	0	6	1	5	0	4	0	4	2	4	0	0	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.455C>G	p.Pro152Arg	p.P152R	ENST00000327554	5/14	102	88	14	135	135	0	strelka-varscan-mutect	CCDC60,missense_variant,p.Pro152Arg,ENST00000327554,NM_178499.4;RP11-768F21.1,intron_variant,,ENST00000509470,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000535511,;	G	ENST00000327554	Transcript	missense_variant	920/2450	455/1653	152/550	P/R	cCc/cGc		1		1	CCDC60	HGNC	HGNC:28610	protein_coding	YES	CCDS9190.1	ENSP00000333374	Q8IWA6		UPI000019906E	NM_178499.4	tolerated(0.15)		5/14		Pfam_domain:PF15769,hmmpanther:PTHR34754																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	119488764	119488764	C	G	1	0	0	0	0	1	0	0	0	2533	637	22	4		4	CCDC60	12	119488764	Missense_Mutation	SNP	C	C3L-00080_TP	4807801	119488764	13786545	536	2747											
ZCCHC8	0	.	GRCh38	chr12	122480204	122480204	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacgtctggaattcctcTgggagtagatatattaaaac	13	13	8	7	1	2	1	0	0	2	1	3	3	3	3	1	2	2	1	1	2	7	6	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.1126A>T	p.Arg376Ter	p.R376*	ENST00000633063	11/14	49	32	17	80	80	0	strelka-varscan-mutect	ZCCHC8,stop_gained,p.Arg138Ter,ENST00000543897,;ZCCHC8,stop_gained,p.Arg376Ter,ENST00000633063,NM_017612.4;ZCCHC8,stop_gained,p.Arg138Ter,ENST00000536306,;ZCCHC8,stop_gained,p.Arg138Ter,ENST00000544054,;ZCCHC8,stop_gained,p.Arg138Ter,ENST00000536663,;ZCCHC8,downstream_gene_variant,,ENST00000540586,;ZCCHC8,non_coding_transcript_exon_variant,,ENST00000542892,;ZCCHC8,upstream_gene_variant,,ENST00000538116,;ZCCHC8,downstream_gene_variant,,ENST00000538493,;ZCCHC8,downstream_gene_variant,,ENST00000546149,;	A	ENST00000633063	Transcript	stop_gained	1359/2955	1126/2124	376/707	R/*	Aga/Tga		1		-1	ZCCHC8	HGNC	HGNC:25265	protein_coding	YES		ENSP00000488055	Q6NZY4		UPI00001E0582	NM_017612.4			11/14		hmmpanther:PTHR13316,hmmpanther:PTHR13316:SF0																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	7	122480204	122480204	T	A	1	0	0	0	0	0	1	0	0	18169	1588	55	4		4	ZCCHC8	12	122480204	Nonsense_Mutation	SNP	T	C3L-00080_TP	2991440	122480204	10795105	537	2748											
FBRSL1	0	.	GRCh38	chr12	132583070	132583070	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccgggcccagagcgagctGggccggtccggggcccccgc	3	3	17	18	5	0	1	0	0	0	1	2	2	2	1	6	5	2	1	6	5	0	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2430G>T	p.=	p.L810L	ENST00000434748	17/17	55	29	26	37	37	0	strelka-varscan-mutect	FBRSL1,synonymous_variant,p.=,ENST00000434748,NM_001142641.1;MIR6763,downstream_gene_variant,,ENST00000612332,;FBRSL1,downstream_gene_variant,,ENST00000542306,;	T	ENST00000434748	Transcript	synonymous_variant	3450/5568	2430/3138	810/1045	L	ctG/ctT		1		1	FBRSL1	HGNC	HGNC:29308	protein_coding	YES	CCDS45010.1	ENSP00000396160	Q9HCM7		UPI00018830C3	NM_001142641.1			17/17		hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF20																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	132583070	132583070	G	T	1	0	0	0	0	0	0	0	1	5571	1335	47	2		2	FBRSL1	12	132583070	Silent	SNP	G	C3L-00080_TP	10102866	132583070	692239	538	2749											
VWA8	0	.	GRCh38	chr13	41891491	41891491	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctgcatctctctgttttCcagcaagttgttcaaaacag	11	13	7	10	0	3	0	1	0	2	0	5	0	4	0	1	0	4	6	1	0	4	4	rs768100252		C3L-00080_TP	C3L-00080_NB	C	C																c.580G>T	p.Glu194Ter	p.E194*	ENST00000379310	5/45	159	101	58	221	221	0	strelka-varscan-mutect	VWA8,stop_gained,p.Glu194Ter,ENST00000379310,NM_015058.1;VWA8,stop_gained,p.Glu194Ter,ENST00000281496,NM_001009814.1;	A	ENST00000379310	Transcript	stop_gained	649/7147	580/5718	194/1905	E/*	Gaa/Taa	rs768100252	1		-1	VWA8	HGNC	HGNC:29071	protein_coding	YES	CCDS41881.1	ENSP00000368612	A3KMH1		UPI00001606AC	NM_015058.1			5/45		Gene3D:3.40.50.300,Pfam_domain:PF07728,hmmpanther:PTHR21610,Low_complexity_(Seg):seg,Superfamily_domains:SSF52540																	HIGH	1	SNV	2			1										PASS		rs768100252	.												A	4	1	7	41891491	41891491	C	A	1	0	0	0	0	0	1	0	0	17800	864	30	2		2	VWA8	13	41891491	Nonsense_Mutation	SNP	C	C3L-00080_TP		41891491	72472837	539	2750											
SPERT	0	.	GRCh38	chr13	45713451	45713451	+	Frame_Shift_Del	DEL	G	G	-																															gtaaatgagaactgccgcctGcagtctccctacttctcccc																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.426delG	p.Gln143SerfsTer87	p.Q143Sfs*87	ENST00000310521	3/3	285	155	130	338	338	0	sindel-varindel-pindel	SPERT,frameshift_variant,p.Gln107SerfsTer87,ENST00000378966,;SPERT,frameshift_variant,p.Gln143SerfsTer87,ENST00000310521,NM_152719.2;SPERT,frameshift_variant,p.Gln107SerfsTer87,ENST00000610924,NM_001286342.1;SPERT,frameshift_variant,p.Gln116SerfsTer?,ENST00000533564,;	-	ENST00000310521	Transcript	frameshift_variant	506/1613	426/1347	142/448	L/X	ctG/ct		1		1	SPERT	HGNC	HGNC:30720	protein_coding	YES	CCDS9399.1	ENSP00000309189	Q8NA61	A0A140VJV5	UPI0000070F5F	NM_152719.2			3/3		Pfam_domain:PF14645,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF13																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	7	45713451	45713451	G	-	1	0	1	0	1	0	0	0	0	15390	1306	46	0		0	SPERT	13	45713451	Frame_Shift_Del	DEL	G	C3L-00080_TP	3821960	45713451	68650877	540	2751											
KPNA3	0	.	GRCh38	chr13	49706142	49706142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagttgctgattgcccaagCagcttctttttgtgttccaa	8	16	8	9	0	1	1	0	1	1	0	2	1	2	1	2	0	4	5	2	0	3	7	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1165G>T	p.Ala389Ser	p.A389S	ENST00000261667	14/17	67	39	28	86	85	1	strelka-varscan-mutect	KPNA3,missense_variant,p.Ala389Ser,ENST00000261667,NM_002267.3;KPNA3,upstream_gene_variant,,ENST00000436760,;	A	ENST00000261667	Transcript	missense_variant	1580/4474	1165/1566	389/521	A/S	Gct/Tct		1		-1	KPNA3	HGNC	HGNC:6396	protein_coding	YES	CCDS9421.1	ENSP00000261667	O00505	A0A024RDV7	UPI000012D5F9	NM_002267.3	deleterious(0.01)		14/17		hmmpanther:PTHR23316,hmmpanther:PTHR23316:SF6,PIRSF_domain:PIRSF005673,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	49706142	49706142	C	A	1	0	0	0	0	1	0	0	0	8311	710	25	2		2	KPNA3	13	49706142	Missense_Mutation	SNP	C	C3L-00080_TP	3992691	49706142	64658186	541	2752											
KCNRG	0	.	GRCh38	chr13	50016044	50016044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccagtgtggttctgacaGcactactgataaccaaactg	11	12	8	10	0	1	2	0	2	1	0	2	2	2	2	2	1	4	2	2	1	3	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.551G>C	p.Ser184Thr	p.S184T	ENST00000312942	1/2	89	67	22	124	124	0	strelka-varscan-mutect	KCNRG,missense_variant,p.Ser184Thr,ENST00000360473,NM_199464.2;KCNRG,missense_variant,p.Ser184Thr,ENST00000312942,NM_173605.1;TRIM13,3_prime_UTR_variant,,ENST00000378182,NM_213590.2,NM_052811.3;TRIM13,downstream_gene_variant,,ENST00000420995,NM_005798.4;TRIM13,downstream_gene_variant,,ENST00000356017,NM_001007278.2;TRIM13,downstream_gene_variant,,ENST00000457662,;TRIM13,downstream_gene_variant,,ENST00000378183,;TRIM13,downstream_gene_variant,,ENST00000442421,;DLEU2,intron_variant,,ENST00000621282,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;	C	ENST00000312942	Transcript	missense_variant	791/1527	551/819	184/272	S/T	aGc/aCc		1		1	KCNRG	HGNC	HGNC:18893	protein_coding	YES	CCDS9424.1	ENSP00000324191	Q8N5I3		UPI000000D8AF	NM_173605.1	tolerated(0.38)		1/2		hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF5																	MODERATE	1	SNV	1			1										PASS		rs1440604784	.												C	3	2	7	50016044	50016044	G	C	1	0	0	0	0	1	0	0	0	8003	971	34	4		4	KCNRG	13	50016044	Missense_Mutation	SNP	G	C3L-00080_TP	309902	50016044	64348284	542	2753											
NALCN	0	.	GRCh38	chr13	101283952	101283952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggcaggctggggcgCgtccctggggcttgttgaca	4	8	18	11	2	0	1	0	1	0	0	1	2	1	2	2	7	0	4	2	7	0	2	rs75772824		C3L-00080_TP	C3L-00080_NB	C	C																c.1115G>A	p.Arg372His	p.R372H	ENST00000251127	10/44	146	112	34	183	183	0	strelka-varscan-mutect	NALCN,missense_variant,p.Arg372His,ENST00000251127,NM_052867.2;NALCN,non_coding_transcript_exon_variant,,ENST00000470333,;NALCN,non_coding_transcript_exon_variant,,ENST00000497170,;	T	ENST00000251127	Transcript	missense_variant	1197/6818	1115/5217	372/1738	R/H	cGc/cAc	rs75772824,COSM259190	1		-1	NALCN	HGNC	HGNC:19082	protein_coding	YES	CCDS9498.1	ENSP00000251127	Q8IZF0	A0A024RE05	UPI000004EBBD	NM_052867.2	tolerated(0.55)		10/44		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF214											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs75772824	.												T	3	4	7	101283952	101283952	C	T	1	0	0	0	0	1	0	0	0	10155	768	27	1		1	NALCN	13	101283952	Missense_Mutation	SNP	C	C3L-00080_TP	51267908	101283952	13080376	543	2754											
MYO16	0	.	GRCh38	chr13	109125117	109125117	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttctataaaagttatcAgaggatttttagcacgccag	13	13	7	8	1	2	1	1	0	1	1	3	2	3	2	2	1	1	2	2	1	5	7	rs867188147		C3L-00080_TP	C3L-00080_NB	A	A																c.3541A>C	p.=	p.R1181R	ENST00000457511	30/35	155	123	32	173	172	1	strelka-varscan-mutect	MYO16,synonymous_variant,p.=,ENST00000457511,NM_001198950.1;MYO16,synonymous_variant,p.=,ENST00000356711,NM_015011.1;MYO16,synonymous_variant,p.=,ENST00000357550,;	C	ENST00000457511	Transcript	synonymous_variant	4163/7436	3541/5643	1181/1880	R	Aga/Cga	rs867188147	1		1	MYO16	HGNC	HGNC:29822	protein_coding	YES	CCDS73598.1	ENSP00000401633		F8W883	UPI00002375AE	NM_001198950.1			30/35		PROSITE_profiles:PS50096,hmmpanther:PTHR13140,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs867188147	.												C	2	2	7	109125117	109125117	A	C	1	0	0	0	0	0	0	0	1	10065	202	7	5		5	MYO16	13	109125117	Silent	SNP	A	C3L-00080_TP	7841165	109125117	5239211	544	2755											
COL4A1	0	.	GRCh38	chr13	110187297	110187297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccccttggctcctggCtggcctatcagccctggtgt	2	11	12	16	0	1	0	1	0	0	0	3	0	3	0	5	5	1	3	5	5	1	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1569G>T	p.Gln523His	p.Q523H	ENST00000375820	25/52	220	114	106	258	258	0	strelka-varscan-mutect	COL4A1,missense_variant,p.Gln523His,ENST00000375820,NM_001845.5;COL4A1,downstream_gene_variant,,ENST00000543140,NM_001303110.1;	A	ENST00000375820	Transcript	missense_variant	1691/6532	1569/5010	523/1669	Q/H	caG/caT		1		-1	COL4A1	HGNC	HGNC:2202	protein_coding	YES	CCDS9511.1	ENSP00000364979	P02462		UPI000004981D	NM_001845.5	tolerated(0.48)		25/52		Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	110187297	110187297	C	A	1	0	0	0	0	1	0	0	0	3478	796	28	2		2	COL4A1	13	110187297	Missense_Mutation	SNP	C	C3L-00080_TP	1062180	110187297	4177031	545	2756											
MCF2L	0	.	GRCh38	chr13	112909255	112909255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcttgtgattccagcagagGtctcggcatctcgtccacag	7	11	11	12	2	2	2	0	1	2	1	6	2	4	2	2	2	2	3	2	2	0	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.172G>T	p.Val58Phe	p.V58F	ENST00000397036	2/2	143	80	63	130	130	0	strelka-varscan-mutect	MCF2L,missense_variant,p.Val58Phe,ENST00000397036,;MCF2L,intron_variant,,ENST00000375608,;MCF2L,intron_variant,,ENST00000442625,;	T	ENST00000397036	Transcript	missense_variant,splice_region_variant	180/1544	172/195	58/64	V/F	Gtc/Ttc		1		1	MCF2L	HGNC	HGNC:14576	protein_coding			ENSP00000380230		A2A3H1	UPI0000E59B13		tolerated_low_confidence(0.17)		2/2																			MODERATE		SNV	2			1										PASS		.	.												T	3	4	7	112909255	112909255	G	T	1	0	0	0	0	1	0	0	0	9310	1275	44	2		2	MCF2L	13	112909255	Missense_Mutation	SNP	G	C3L-00080_TP	2721958	112909255	1455073	546	2757											
POTEG	0	.	GRCh38	chr14	19433771	19433771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccaggcctggttacctCttttgcttgtccttcttgtt	3	17	8	13	0	2	0	0	0	2	0	3	0	3	0	4	2	3	3	4	2	1	7	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.519G>T	p.Lys173Asn	p.K173N	ENST00000547848	1/11	202	177	25	204	204	0	varscan-mutect	POTEG,missense_variant,p.Lys173Asn,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Lys173Asn,ENST00000547722,;POTEG,missense_variant,p.Lys173Asn,ENST00000622767,;	A	ENST00000547848	Transcript	missense_variant,splice_region_variant	571/2204	519/1527	173/508	K/N	aaG/aaT		1		-1	POTEG	HGNC	HGNC:33896	protein_coding	YES	CCDS73610.1	ENSP00000450853	Q6S5H5		UPI00004443FE	NM_001005356.2	tolerated(0.44)		1/11		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24118:SF43,hmmpanther:PTHR24118,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415																	MODERATE	1	SNV	1			1										PASS		rs1173296642	.												A	3	1	7	19433771	19433771	C	A	1	0	0	0	0	1	0	0	0	12380	927	32	2		2	POTEG	14	19433771	Missense_Mutation	SNP	C	C3L-00080_TP		19433771	87609947	547	2758											
OR4K13	0	.	GRCh38	chr14	20034481	20034481	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaataacatccccaccatGagatggtcttacgttctcgg	10	10	10	11	2	2	1	0	1	2	1	4	3	3	2	3	3	2	1	3	3	3	3	rs760036674		C3L-00080_TP	C3L-00080_NB	G	G																c.278C>A	p.Ser93Ter	p.S93*	ENST00000315693	1/1	377	210	167	226	225	1	strelka-varscan-mutect	OR4K13,stop_gained,p.Ser93Ter,ENST00000315693,NM_001004714.1;	T	ENST00000315693	Transcript	stop_gained	280/917	278/915	93/304	S/*	tCa/tAa	rs760036674	1		-1	OR4K13	HGNC	HGNC:15351	protein_coding	YES	CCDS32028.1	ENSP00000319322	Q8NH42	A0A126GVS2	UPI0000041CEB	NM_001004714.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF123,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	HIGH	1	SNV				1										PASS		rs760036674	.												T	4	4	7	20034481	20034481	G	T	1	0	0	0	0	0	1	0	0	11145	1294	45	2		2	OR4K13	14	20034481	Nonsense_Mutation	SNP	G	C3L-00080_TP	600710	20034481	87009237	548	2759											
OR4L1	0	.	GRCh38	chr14	20060273	20060273	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtgtctctccactgccAcaacacccaagatgatcata	13	9	5	14	0	2	2	1	1	1	1	4	2	3	2	3	0	2	0	3	0	3	1	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.229A>T	p.Thr77Ser	p.T77S	ENST00000315683	1/1	298	175	123	134	134	0	strelka-varscan-mutect	OR4L1,missense_variant,p.Thr77Ser,ENST00000315683,NM_001004717.1;	T	ENST00000315683	Transcript	missense_variant	229/939	229/939	77/312	T/S	Aca/Tca		1		1	OR4L1	HGNC	HGNC:15356	protein_coding	YES	CCDS32029.1	ENSP00000319217	Q8NH43		UPI0000041CE3	NM_001004717.1	deleterious(0.02)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF221,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	7	20060273	20060273	A	T	1	0	0	0	0	1	0	0	0	11151	159	6	4		4	OR4L1	14	20060273	Missense_Mutation	SNP	A	C3L-00080_TP	25792	20060273	86983445	549	2760											
RNASE7	0	.	GRCh38	chr14	21043404	21043404	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggcctgtaagcctcccCagaaaaaggactctcagcaa	13	7	9	12	0	1	1	1	0	1	1	3	2	2	2	4	2	2	2	4	2	5	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.412C>T	p.Gln138Ter	p.Q138*	ENST00000298690	2/2	219	116	103	109	109	0	strelka-varscan-mutect	RNASE7,stop_gained,p.Gln138Ter,ENST00000298690,NM_032572.3;NDRG2,intron_variant,,ENST00000403829,NM_001282211.1;NDRG2,intron_variant,,ENST00000555026,;RNASE7,stop_gained,p.Gln138Ter,ENST00000481538,;	T	ENST00000298690	Transcript	stop_gained	669/1498	412/471	138/156	Q/*	Cag/Tag		1		1	RNASE7	HGNC	HGNC:19278	protein_coding	YES	CCDS41914.1	ENSP00000298690	Q9H1E1		UPI000013E505	NM_032572.3			2/2		hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF31,Gene3D:3.10.130.10,Pfam_domain:PF00074,SMART_domains:SM00092,Superfamily_domains:SSF54076,Prints_domain:PR00794,PD000535																	HIGH	1	SNV	1			1										PASS		rs1236573064	.												T	4	4	7	21043404	21043404	C	T	1	0	0	0	0	0	1	0	0	13587	595	21	3		3	RNASE7	14	21043404	Nonsense_Mutation	SNP	C	C3L-00080_TP	983131	21043404	86000314	550	2761											
EFS	0	.	GRCh38	chr14	23358933	23358933	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgtgcaggcctgatcCgggggcctagatccctgagc	5	8	13	15	1	0	3	0	2	0	1	3	3	3	3	6	3	2	1	6	3	1	1	rs754723164		C3L-00080_TP	C3L-00080_NB	C	C																c.1194G>T	p.=	p.P398P	ENST00000216733	5/6	157	90	67	86	86	0	strelka-varscan-mutect	EFS,synonymous_variant,p.=,ENST00000216733,NM_005864.3;EFS,synonymous_variant,p.=,ENST00000351354,NM_032459.2;EFS,synonymous_variant,p.=,ENST00000429593,NM_001277174.1;RP11-124D2.3,downstream_gene_variant,,ENST00000554010,;	A	ENST00000216733	Transcript	synonymous_variant	1802/3118	1194/1686	398/561	P	ccG/ccT	rs754723164,COSM5037128	1		-1	EFS	HGNC	HGNC:16898	protein_coding	YES	CCDS9595.1	ENSP00000216733	O43281		UPI0000129D21	NM_005864.3			5/6		hmmpanther:PTHR10654,hmmpanther:PTHR10654:SF14,Pfam_domain:PF12026											0,1						LOW	1	SNV	1		0,1	1										PASS		rs748164198	.												A	2	1	7	23358933	23358933	C	A	1	0	0	0	0	0	0	0	1	4796	639	23	1		1	EFS	14	23358933	Silent	SNP	C	C3L-00080_TP	2315529	23358933	83684785	551	2762											
MYH7	0	.	GRCh38	chr14	23432750	23432750	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggagtgtacaccggcaGccacttgtaagggttgacgg	9	8	14	10	2	1	1	1	1	0	0	1	2	1	2	2	4	2	4	2	4	2	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.391C>A	p.Leu131Met	p.L131M	ENST00000355349	5/40	738	437	301	420	420	0	strelka-varscan-mutect	MYH7,missense_variant,p.Leu131Met,ENST00000355349,NM_000257.3;	T	ENST00000355349	Transcript	missense_variant	554/6087	391/5808	131/1935	L/M	Ctg/Atg		1		-1	MYH7	HGNC	HGNC:7577	protein_coding	YES	CCDS9601.1	ENSP00000347507	P12883		UPI000014019B	NM_000257.3	deleterious(0.01)		5/40		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF413,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	23432750	23432750	G	T	1	0	0	0	0	1	0	0	0	10039	962	34	2		2	MYH7	14	23432750	Missense_Mutation	SNP	G	C3L-00080_TP	73817	23432750	83610968	552	2763											
ZFHX2	0	.	GRCh38	chr14	23532862	23532862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttgcagcggtgggtgtcaCcagccacctccttccattca	6	10	10	15	1	2	0	2	0	0	0	4	0	4	0	5	2	3	2	5	2	0	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2264G>T	p.Gly755Val	p.G755V	ENST00000419474	3/10	324	236	88	202	202	0	strelka-varscan-mutect	ZFHX2,missense_variant,p.Gly755Val,ENST00000419474,NM_033400.2;ZFHX2,intron_variant,,ENST00000615307,;ZFHX2,downstream_gene_variant,,ENST00000412565,;ZFHX2,downstream_gene_variant,,ENST00000555334,;RP11-66N24.4,intron_variant,,ENST00000553985,;RP11-66N24.4,intron_variant,,ENST00000556354,;RP11-66N24.7,downstream_gene_variant,,ENST00000622438,;RP11-66N24.4,intron_variant,,ENST00000554403,;	A	ENST00000419474	Transcript	missense_variant	2620/9182	2264/7719	755/2572	G/V	gGt/gTt		1		-1	ZFHX2	HGNC	HGNC:20152	protein_coding	YES	CCDS55907.1	ENSP00000413418	Q9C0A1		UPI000198D01B	NM_033400.2	deleterious(0)		3/10		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF119																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	7	23532862	23532862	C	A	1	0	0	0	0	1	0	0	0	18211	507	18	2		2	ZFHX2	14	23532862	Missense_Mutation	SNP	C	C3L-00080_TP	100112	23532862	83510856	553	2764											
GPR33	0	.	GRCh38	chr14	31483001	31483001	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacagaagaatcttcactaAatgttgactcaaacagagca	17	9	6	9	0	3	4	2	1	1	3	3	4	3	4	0	0	3	2	0	0	6	4	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.965T>G	p.Phe322Cys	p.F322C	ENST00000399285	2/2	56	28	28	40	40	0	strelka-varscan-mutect	GPR33,missense_variant,p.Phe322Cys,ENST00000399285,NM_001197184.2;	C	ENST00000399285	Transcript	missense_variant	1020/1057	965/1002	322/333	F/C	tTt/tGt		1		-1	GPR33	HGNC	HGNC:4489	protein_coding	YES	CCDS73628.1	ENSP00000421557	Q49SQ1		UPI0000585CCE	NM_001197184.2	deleterious(0)		2/2		hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF5,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00526																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	31483001	31483001	A	C	1	0	0	0	0	1	0	0	0	6573	14	1	5		5	GPR33	14	31483001	Missense_Mutation	SNP	A	C3L-00080_TP	7950139	31483001	75560717	554	2765											
NPAS3	0	.	GRCh38	chr14	33800833	33800833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccctggccatgcagagCaacctgctgcccaacgcgca	9	5	11	16	2	0	2	0	1	0	1	0	2	0	2	4	1	6	4	4	1	2	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2526C>A	p.Ser842Arg	p.S842R	ENST00000356141	12/12	783	444	339	482	482	0	strelka-varscan-mutect	NPAS3,missense_variant,p.Ser810Arg,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Ser812Arg,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Ser847Arg,ENST00000551492,;NPAS3,missense_variant,p.Ser842Arg,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Ser829Arg,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Ser816Arg,ENST00000551634,;	A	ENST00000356141	Transcript	missense_variant	2526/2802	2526/2802	842/933	S/R	agC/agA		1		1	NPAS3	HGNC	HGNC:19311	protein_coding	YES	CCDS53891.1	ENSP00000348460	Q8IXF0	X5D2Q4	UPI00000743C2	NM_001164749.1	deleterious_low_confidence(0)		12/12		hmmpanther:PTHR23043:SF30,hmmpanther:PTHR23043																	MODERATE	1	SNV	1			1										PASS		rs1444367913	.												A	3	1	7	33800833	33800833	C	A	1	0	0	0	0	1	0	0	0	10612	709	25	2		2	NPAS3	14	33800833	Missense_Mutation	SNP	C	C3L-00080_TP	2317832	33800833	73242885	555	2766											
SNX6	0	.	GRCh38	chr14	34608106	34608106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcatgttgccgaacaactGaaaactcgttttgtttaaaa	13	13	6	9	2	1	1	1	1	0	0	2	2	1	1	2	0	4	3	2	0	6	5			C3L-00080_TP	C3L-00080_NB	G	G																c.230C>T	p.Ser77Leu	p.S77L	ENST00000362031	4/14	145	82	63	101	101	0	strelka-varscan-mutect	SNX6,missense_variant,p.Ser77Leu,ENST00000362031,NM_152233.2;SNX6,missense_variant,p.Ser95Leu,ENST00000555648,;SNX6,5_prime_UTR_variant,,ENST00000396526,NM_021249.3;SNX6,intron_variant,,ENST00000557265,;SNX6,missense_variant,p.Ser77Leu,ENST00000555416,;SNX6,missense_variant,p.Ser71Leu,ENST00000556712,;SNX6,3_prime_UTR_variant,,ENST00000556162,;SNX6,non_coding_transcript_exon_variant,,ENST00000556303,;SNX6,intron_variant,,ENST00000557341,;	A	ENST00000362031	Transcript	missense_variant	261/2001	230/1257	77/418	S/L	tCa/tTa	COSM433030,COSM4814580	1		-1	SNX6	HGNC	HGNC:14970	protein_coding	YES	CCDS41942.1	ENSP00000355217		A0A0A0MRI2	UPI00006AB832	NM_152233.2	tolerated(0.1)		4/14		PROSITE_profiles:PS50195,hmmpanther:PTHR10555:SF120,hmmpanther:PTHR10555,PIRSF_domain:PIRSF036924,Gene3D:3.30.1520.10,Pfam_domain:PF00787,Superfamily_domains:SSF64268											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	7	34608106	34608106	G	A	1	0	0	0	0	1	0	0	0	15227	1294	45	3		3	SNX6	14	34608106	Missense_Mutation	SNP	G	C3L-00080_TP	807273	34608106	72435612	556	2767											
FAM179B	0	.	GRCh38	chr14	45008920	45008920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattttttcttagatgcataGctctcttaggtcccttcgta	7	18	6	10	1	2	1	0	0	2	1	5	1	3	1	1	1	2	3	1	1	4	8	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2912G>T	p.Ser971Ile	p.S971I	ENST00000361462	6/20	198	152	46	134	133	1	strelka-varscan-mutect	FAM179B,missense_variant,p.Ser971Ile,ENST00000361462,NM_001308120.1;FAM179B,missense_variant,p.Ser971Ile,ENST00000361577,NM_015091.2;KLHL28,intron_variant,,ENST00000556239,;FAM179B,downstream_gene_variant,,ENST00000555874,;FAM179B,downstream_gene_variant,,ENST00000557250,;KLHL28,intron_variant,,ENST00000553817,;FAM179B,intron_variant,,ENST00000557423,;FAM179B,downstream_gene_variant,,ENST00000555607,;FAM179B,upstream_gene_variant,,ENST00000556105,;	T	ENST00000361462	Transcript	missense_variant	3095/6375	2912/5322	971/1773	S/I	aGc/aTc		1		1	FAM179B	HGNC	HGNC:19959	protein_coding	YES	CCDS76676.1	ENSP00000354917		G3XAE9	UPI000022974E	NM_001308120.1	tolerated(0.08)		6/20		hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	45008920	45008920	G	T	1	0	0	0	0	1	0	0	0	5351	971	34	2		2	FAM179B	14	45008920	Missense_Mutation	SNP	G	C3L-00080_TP	10400814	45008920	62034798	557	2768											
L2HGDH	0	.	GRCh38	chr14	50283946	50283946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attggtcaagacagagccacCtgcttcttggaaatcctggg	10	10	11	10	0	2	2	1	0	1	2	3	3	3	3	3	3	2	1	3	3	2	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.628G>T	p.Gly210Cys	p.G210C	ENST00000267436	5/10	375	226	149	282	282	0	strelka-varscan-mutect	L2HGDH,missense_variant,p.Gly210Cys,ENST00000267436,NM_024884.2;L2HGDH,missense_variant,p.Gly210Cys,ENST00000421284,;L2HGDH,missense_variant,p.Gly210Cys,ENST00000261699,;L2HGDH,missense_variant,p.Gly210Cys,ENST00000555423,;L2HGDH,3_prime_UTR_variant,,ENST00000555610,;	A	ENST00000267436	Transcript	missense_variant	1026/6414	628/1392	210/463	G/C	Ggt/Tgt		1		-1	L2HGDH	HGNC	HGNC:20499	protein_coding	YES	CCDS9698.1	ENSP00000267436	Q9H9P8		UPI0000048F63	NM_024884.2	deleterious(0)		5/10		Gene3D:3.50.50.60,Pfam_domain:PF01266,hmmpanther:PTHR13847,hmmpanther:PTHR13847:SF191,Superfamily_domains:SSF51905																	MODERATE	1	SNV	1			1										PASS		rs1286021737	.												A	3	1	7	50283946	50283946	C	A	1	0	0	0	0	1	0	0	0	8491	681	24	2		2	L2HGDH	14	50283946	Missense_Mutation	SNP	C	C3L-00080_TP	5275026	50283946	56759772	558	2769											
DAAM1	0	.	GRCh38	chr14	59324402	59324402	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaatttctgatgttaggaAttcaacctgtaatagataaa	16	14	7	4	0	2	3	1	2	1	1	2	4	2	4	1	1	1	2	1	1	8	6	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.937A>G	p.Ile313Val	p.I313V	ENST00000395125	7/25	120	81	39	109	109	0	strelka-varscan-mutect	DAAM1,missense_variant,p.Ile313Val,ENST00000395125,NM_014992.2;DAAM1,missense_variant,p.Ile313Val,ENST00000360909,NM_001270520.1;DAAM1,downstream_gene_variant,,ENST00000557327,;DAAM1,non_coding_transcript_exon_variant,,ENST00000556894,;	G	ENST00000395125	Transcript	missense_variant	960/5806	937/3237	313/1078	I/V	Att/Gtt		1		1	DAAM1	HGNC	HGNC:18142	protein_coding	YES	CCDS9737.1	ENSP00000378557	Q9Y4D1		UPI0000161FAA	NM_014992.2	deleterious(0)		7/25		PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF181,hmmpanther:PTHR23213,Pfam_domain:PF06367,SMART_domains:SM01139,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	59324402	59324402	A	G	1	0	0	0	0	1	0	0	0	4016	101	4	5		5	DAAM1	14	59324402	Missense_Mutation	SNP	A	C3L-00080_TP	9040456	59324402	47719316	559	2770											
RTN1	0	.	GRCh38	chr14	59727408	59727408	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatagcctgagggcagcgCgtcctccgcggccatggggt	6	6	15	14	4	0	1	0	1	0	0	2	1	2	1	4	4	2	1	4	4	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1276G>C	p.Ala426Pro	p.A426P	ENST00000267484	3/9	115	57	58	56	56	0	strelka-varscan-mutect	RTN1,missense_variant,p.Ala426Pro,ENST00000267484,NM_021136.2;RTN1,missense_variant,p.Ala352Pro,ENST00000611068,;RTN1,non_coding_transcript_exon_variant,,ENST00000432103,;	G	ENST00000267484	Transcript	missense_variant	1612/3435	1276/2331	426/776	A/P	Gcg/Ccg		1		-1	RTN1	HGNC	HGNC:10467	protein_coding	YES	CCDS9740.1	ENSP00000267484	Q16799		UPI00001352DA	NM_021136.2	tolerated(0.14)		3/9		hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994																	MODERATE	1	SNV	1			1										PASS		rs1276026033	.												G	3	3	7	59727408	59727408	C	G	1	0	0	0	0	1	0	0	0	13985	768	27	4		4	RTN1	14	59727408	Missense_Mutation	SNP	C	C3L-00080_TP	403006	59727408	47316310	560	2771											
SYT16	0	.	GRCh38	chr14	62080848	62080848	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaggaacaggacaggacCaatttgcaggtgccatccgg	13	5	12	11	1	0	0	0	0	0	0	1	3	1	3	3	5	4	1	3	5	3	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1008C>A	p.=	p.T336T	ENST00000568344	4/6	212	185	27	145	145	0	strelka-varscan-mutect	SYT16,synonymous_variant,p.=,ENST00000568344,NM_031914.2;SYT16,5_prime_UTR_variant,,ENST00000430451,;RP11-355I22.5,intron_variant,,ENST00000553990,;SYT16,missense_variant,p.Pro366Gln,ENST00000555409,;	A	ENST00000568344	Transcript	synonymous_variant	1205/13978	1008/1938	336/645	T	acC/acA		1		1	SYT16	HGNC	HGNC:23142	protein_coding	YES	CCDS45121.1	ENSP00000478637	Q17RD7		UPI0000EE1AC0	NM_031914.2			4/6		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF113																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	62080848	62080848	C	A	1	0	0	0	0	0	0	0	1	15866	581	21	2		2	SYT16	14	62080848	Silent	SNP	C	C3L-00080_TP	2353440	62080848	44962870	561	2772											
PLEKHH1	0	.	GRCh38	chr14	67583849	67583849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacaggttccaccccaggCgctatagacatggggccccc	9	6	11	15	1	0	2	0	0	0	2	1	2	1	2	5	4	0	2	5	4	3	4	rs200119528		C3L-00080_TP	C3L-00080_NB	C	C																c.3535C>A	p.Arg1179Ser	p.R1179S	ENST00000329153	25/29	255	194	61	129	129	0	strelka-varscan-mutect	PLEKHH1,missense_variant,p.Arg1179Ser,ENST00000329153,NM_020715.2;PIGH,intron_variant,,ENST00000561272,;PLEKHH1,upstream_gene_variant,,ENST00000559832,;PLEKHH1,3_prime_UTR_variant,,ENST00000561370,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000557971,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000559981,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558386,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558366,;PLEKHH1,upstream_gene_variant,,ENST00000558214,;PLEKHH1,upstream_gene_variant,,ENST00000559168,;PLEKHH1,downstream_gene_variant,,ENST00000560100,;PLEKHH1,downstream_gene_variant,,ENST00000558296,;PLEKHH1,upstream_gene_variant,,ENST00000559766,;PLEKHH1,upstream_gene_variant,,ENST00000561057,;	A	ENST00000329153	Transcript	missense_variant	3667/6604	3535/4095	1179/1364	R/S	Cgc/Agc	rs200119528	1		1	PLEKHH1	HGNC	HGNC:17733	protein_coding	YES	CCDS45128.1	ENSP00000330278	Q9ULM0		UPI00001C1F64	NM_020715.2	deleterious(0.03)		25/29		PROSITE_profiles:PS50057,hmmpanther:PTHR22903:SF4,hmmpanther:PTHR22903,Pfam_domain:PF00373,Gene3D:1.20.80.10,SMART_domains:SM00295,Superfamily_domains:SSF47031																	MODERATE	1	SNV	1			1										PASS		rs200119528	.												A	3	1	7	67583849	67583849	C	A	1	0	0	0	0	1	0	0	0	12169	768	27	1		1	PLEKHH1	14	67583849	Missense_Mutation	SNP	C	C3L-00080_TP	5503001	67583849	39459869	562	2773											
ZFYVE26	0	.	GRCh38	chr14	67785262	67785262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccaccagggaagacagtGgaggagtcctgggctctgag	9	6	16	10	0	1	2	0	1	1	1	3	5	3	5	3	4	0	2	3	4	1	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.3320C>T	p.Pro1107Leu	p.P1107L	ENST00000347230	19/42	645	372	273	365	364	1	strelka-varscan-mutect	ZFYVE26,missense_variant,p.Pro1107Leu,ENST00000347230,NM_015346.3;ZFYVE26,missense_variant,p.Pro1107Leu,ENST00000555452,;ZFYVE26,3_prime_UTR_variant,,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;	A	ENST00000347230	Transcript	missense_variant	3459/9675	3320/7620	1107/2539	P/L	cCa/cTa		1		-1	ZFYVE26	HGNC	HGNC:20761	protein_coding	YES	CCDS9788.1	ENSP00000251119	Q68DK2		UPI00001FD735	NM_015346.3	tolerated(0.3)		19/42																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	67785262	67785262	G	A	1	0	0	0	0	1	0	0	0	18245	1348	47	3		3	ZFYVE26	14	67785262	Missense_Mutation	SNP	G	C3L-00080_TP	201413	67785262	39258456	563	2774											
ZFYVE26	0	.	GRCh38	chr14	67794201	67794201	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgctcagctcactacttgTactttccagggatgggtttg	6	15	11	9	0	2	0	2	0	0	0	3	1	3	1	1	2	4	4	1	2	2	5			C3L-00080_TP	C3L-00080_NB	T	T																c.2371A>G	p.Thr791Ala	p.T791A	ENST00000347230	13/42	659	585	74	391	391	0	strelka-varscan-mutect	ZFYVE26,missense_variant,p.Thr791Ala,ENST00000347230,NM_015346.3;ZFYVE26,missense_variant,p.Thr791Ala,ENST00000555452,;ZFYVE26,3_prime_UTR_variant,,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;ZFYVE26,downstream_gene_variant,,ENST00000557366,;ZFYVE26,downstream_gene_variant,,ENST00000557407,;RP11-1012A1.7,upstream_gene_variant,,ENST00000557141,;	C	ENST00000347230	Transcript	missense_variant	2510/9675	2371/7620	791/2539	T/A	Aca/Gca	COSM1370733	1		-1	ZFYVE26	HGNC	HGNC:20761	protein_coding	YES	CCDS9788.1	ENSP00000251119	Q68DK2		UPI00001FD735	NM_015346.3	tolerated(0.19)		13/42		Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	7	67794201	67794201	T	C	1	0	0	0	0	1	0	0	0	18245	1638	57	5		5	ZFYVE26	14	67794201	Missense_Mutation	SNP	T	C3L-00080_TP	8939	67794201	39249517	564	2775											
ADAM20	0	.	GRCh38	chr14	70524144	70524144	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcaacaaaccgctgaTgggtccaccagcccacaaaa	14	4	7	16	1	1	1	1	1	0	0	2	1	2	1	5	1	4	2	5	1	4	0	rs761166677		C3L-00080_TP	C3L-00080_NB	T	T																c.764A>T	p.His255Leu	p.H255L	ENST00000256389	2/2	389	308	81	292	292	0	strelka-varscan-mutect	ADAM20,missense_variant,p.His255Leu,ENST00000256389,NM_003814.4;RP11-486O13.4,intron_variant,,ENST00000556646,;	A	ENST00000256389	Transcript	missense_variant	1009/2795	764/2331	255/776	H/L	cAt/cTt	rs761166677	1		-1	ADAM20	HGNC	HGNC:199	protein_coding	YES	CCDS32111.1	ENSP00000256389	O43506		UPI0000183495	NM_003814.4	deleterious(0)		2/2		Gene3D:3.40.390.10,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF135,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		rs761166677	.												A	3	1	7	70524144	70524144	T	A	1	0	0	0	0	1	0	0	0	286	1464	51	4		4	ADAM20	14	70524144	Missense_Mutation	SNP	T	C3L-00080_TP	2729943	70524144	36519574	565	2776											
TTLL5	0	.	GRCh38	chr14	75669511	75669511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaaggacaacaatattaGagtaattggaggtgcgtata	17	10	10	4	1	0	1	0	0	0	1	0	3	0	3	0	3	3	2	0	3	9	7	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.170G>T	p.Arg57Ile	p.R57I	ENST00000298832	3/32	229	193	36	143	141	2	strelka-varscan-mutect	TTLL5,missense_variant,p.Arg57Ile,ENST00000298832,NM_015072.4;TTLL5,missense_variant,p.Arg57Ile,ENST00000557636,;TTLL5,missense_variant,p.Arg57Ile,ENST00000556977,;TTLL5,missense_variant,p.Arg57Ile,ENST00000286650,;TTLL5,non_coding_transcript_exon_variant,,ENST00000556685,;TTLL5,non_coding_transcript_exon_variant,,ENST00000555290,;TTLL5,non_coding_transcript_exon_variant,,ENST00000556173,;	T	ENST00000298832	Transcript	missense_variant	375/4683	170/3846	57/1281	R/I	aGa/aTa		1		1	TTLL5	HGNC	HGNC:19963	protein_coding	YES	CCDS32124.1	ENSP00000298832	Q6EMB2		UPI00003FF22B	NM_015072.4	deleterious(0.04)		3/32		hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	75669511	75669511	G	T	1	0	0	0	0	1	0	0	0	17241	942	33	2		2	TTLL5	14	75669511	Missense_Mutation	SNP	G	C3L-00080_TP	5145367	75669511	31374207	566	2777											
CIPC	0	.	GRCh38	chr14	77113816	77113816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctctgcagggtgtgccctCtctggtggcaggtggaagtc	5	10	16	10	0	2	0	0	0	2	0	4	1	2	1	1	5	3	3	1	5	1	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.698C>T	p.Ser233Phe	p.S233F	ENST00000361786	4/4	225	176	49	108	108	0	strelka-varscan-mutect	CIPC,missense_variant,p.Ser233Phe,ENST00000361786,NM_033426.2;CIPC,downstream_gene_variant,,ENST00000557115,;CIPC,downstream_gene_variant,,ENST00000555611,;CIPC,downstream_gene_variant,,ENST00000554447,;CIPC,downstream_gene_variant,,ENST00000554658,;TMEM63C,upstream_gene_variant,,ENST00000557408,;CIPC,downstream_gene_variant,,ENST00000555200,;CIPC,downstream_gene_variant,,ENST00000555437,;RP11-463C8.4,intron_variant,,ENST00000557752,;	T	ENST00000361786	Transcript	missense_variant	1015/4486	698/1200	233/399	S/F	tCt/tTt		1		1	CIPC	HGNC	HGNC:20365	protein_coding	YES	CCDS9855.1	ENSP00000355319	Q9C0C6		UPI0000073FD0	NM_033426.2	tolerated(0.17)		4/4		hmmpanther:PTHR34648,hmmpanther:PTHR34648:SF1,Pfam_domain:PF15800																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	77113816	77113816	C	T	1	0	0	0	0	1	0	0	0	3194	913	32	3		3	CIPC	14	77113816	Missense_Mutation	SNP	C	C3L-00080_TP	1444305	77113816	29929902	567	2778											
NRXN3	0	.	GRCh38	chr14	79861542	79861542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggcaaaatgaataacCgtgatctcaaaccccagcct	14	7	7	13	1	1	2	1	2	1	0	2	2	1	2	4	1	4	2	4	1	5	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.4573C>A	p.Arg1525Ser	p.R1525S	ENST00000634499	20/20	365	280	85	209	209	0	strelka-varscan-mutect	NRXN3,missense_variant,p.Arg1525Ser,ENST00000634499,;NRXN3,missense_variant,p.Arg1432Ser,ENST00000635466,;NRXN3,missense_variant,p.Arg498Ser,ENST00000557594,NM_001272020.1;NRXN3,intron_variant,,ENST00000281127,NM_138970.4;NRXN3,intron_variant,,ENST00000428277,NM_001105250.2;NRXN3,intron_variant,,ENST00000554719,NM_004796.5;NRXN3,intron_variant,,ENST00000556003,;NRXN3,3_prime_UTR_variant,,ENST00000554738,;NRXN3,3_prime_UTR_variant,,ENST00000555387,;	A	ENST00000634499	Transcript	missense_variant	5578/6069	4573/4995	1525/1664	R/S	Cgt/Agt		1		1	NRXN3	HGNC	HGNC:8010	protein_coding			ENSP00000488920		A0A0U1RQC5	UPI000719A152				20/20		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF405																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	7	79861542	79861542	C	A	1	0	0	0	0	1	0	0	0	10726	652	23	1		1	NRXN3	14	79861542	Missense_Mutation	SNP	C	C3L-00080_TP	2747726	79861542	27182176	568	2779											
CATSPERB	0	.	GRCh38	chr14	91729452	91729452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatatgttcaaaagcaaaaCtgaaacatatataagtggcg	20	9	7	5	1	1	1	1	1	0	0	1	1	1	1	0	1	3	2	0	1	10	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.28G>T	p.Val10Phe	p.V10F	ENST00000256343	2/27	61	53	8	67	67	0	strelka-varscan-mutect	CATSPERB,missense_variant,p.Val10Phe,ENST00000256343,NM_024764.3;CATSPERB,missense_variant,p.Val10Phe,ENST00000553329,;CATSPERB,missense_variant,p.Val10Phe,ENST00000556661,;CATSPERB,missense_variant,p.Val10Phe,ENST00000554560,;CATSPERB,missense_variant,p.Val10Phe,ENST00000553676,;	A	ENST00000256343	Transcript	missense_variant	185/3623	28/3351	10/1116	V/F	Gtt/Ttt		1		-1	CATSPERB	HGNC	HGNC:20500	protein_coding	YES	CCDS32142.1	ENSP00000256343	Q9H7T0		UPI0000418DA1	NM_024764.3	tolerated(0.1)		2/27		hmmpanther:PTHR14705,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1390282230	.												A	3	1	7	91729452	91729452	C	A	1	0	0	0	0	1	0	0	0	2391	565	20	2		2	CATSPERB	14	91729452	Missense_Mutation	SNP	C	C3L-00080_TP	11867910	91729452	15314266	569	2780											
BTBD7	0	.	GRCh38	chr14	93293967	93293967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgagagcctgaacttcactGagactccccacagaggggct	11	6	11	13	1	1	4	1	2	0	3	2	6	2	4	3	2	2	1	3	2	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1053C>T	p.=	p.L351L	ENST00000334746	3/11	302	237	65	173	173	0	strelka-varscan-mutect	BTBD7,synonymous_variant,p.=,ENST00000334746,NM_001002860.3;BTBD7,synonymous_variant,p.=,ENST00000298896,NM_018167.4;BTBD7,synonymous_variant,p.=,ENST00000553975,;BTBD7,synonymous_variant,p.=,ENST00000555525,;BTBD7,intron_variant,,ENST00000554565,NM_001289133.1;BTBD7,downstream_gene_variant,,ENST00000554968,;BTBD7,non_coding_transcript_exon_variant,,ENST00000554644,;BTBD7,upstream_gene_variant,,ENST00000355125,;	A	ENST00000334746	Transcript	synonymous_variant	1361/8430	1053/3399	351/1132	L	ctC/ctT		1		-1	BTBD7	HGNC	HGNC:18269	protein_coding	YES	CCDS32146.1	ENSP00000335615	Q9P203		UPI00001FDA78	NM_001002860.3			3/11		Gene3D:3.30.710.10,Pfam_domain:PF00651,hmmpanther:PTHR16064,SMART_domains:SM00225																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	93293967	93293967	G	A	1	0	0	0	0	0	0	0	1	1722	1277	45	3		3	BTBD7	14	93293967	Silent	SNP	G	C3L-00080_TP	1564515	93293967	13749751	570	2781											
FAM181A	0	.	GRCh38	chr14	93928801	93928801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggtaagaaaaattgcaaGggcttggagcccctgggacc	12	6	15	8	0	0	1	0	0	0	1	0	4	0	3	3	4	2	3	3	4	4	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.702G>T	p.Lys234Asn	p.K234N	ENST00000267594	3/3	523	387	136	291	291	0	strelka-varscan-mutect	FAM181A,missense_variant,p.Lys234Asn,ENST00000267594,NM_138344.4;FAM181A,missense_variant,p.Lys172Asn,ENST00000557000,NM_001207072.1;FAM181A,missense_variant,p.Lys172Asn,ENST00000556222,NM_001207074.1,NM_001207073.1;FAM181A,missense_variant,p.Lys172Asn,ENST00000557719,NM_001207071.1;FAM181A,missense_variant,p.Lys172Asn,ENST00000554404,;FAM181A-AS1,upstream_gene_variant,,ENST00000554742,;FAM181A-AS1,upstream_gene_variant,,ENST00000554538,;FAM181A-AS1,upstream_gene_variant,,ENST00000556290,;FAM181A-AS1,upstream_gene_variant,,ENST00000555732,;	T	ENST00000267594	Transcript	missense_variant	1009/1816	702/1065	234/354	K/N	aaG/aaT		1		1	FAM181A	HGNC	HGNC:20491	protein_coding	YES	CCDS9914.1	ENSP00000267594	Q8N9Y4		UPI00004567C0	NM_138344.4	deleterious(0.01)		3/3		Pfam_domain:PF15238,hmmpanther:PTHR33766,hmmpanther:PTHR33766:SF1																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	7	93928801	93928801	G	T	1	0	0	0	0	1	0	0	0	5354	991	35	2		2	FAM181A	14	93928801	Missense_Mutation	SNP	G	C3L-00080_TP	634834	93928801	13114917	571	2782											
SERPINA11	0	.	GRCh38	chr14	94443107	94443107	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgttgagctgcccagTgactcctgagaagtcagctt	7	13	12	9	0	1	3	1	3	0	1	2	4	2	3	2	1	3	4	2	1	1	4	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.1036A>T	p.Thr346Ser	p.T346S	ENST00000334708	4/5	114	60	54	56	56	0	strelka-varscan-mutect	SERPINA11,missense_variant,p.Thr346Ser,ENST00000334708,NM_001080451.1;RP11-349I1.2,intron_variant,,ENST00000536735,;	A	ENST00000334708	Transcript	missense_variant	1101/1476	1036/1269	346/422	T/S	Act/Tct		1		-1	SERPINA11	HGNC	HGNC:19193	protein_coding	YES	CCDS32149.1	ENSP00000335024	Q86U17		UPI000015DA3A	NM_001080451.1	tolerated(0.2)		4/5		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF154,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	94443107	94443107	T	A	1	0	0	0	0	1	0	0	0	14364	1696	59	4		4	SERPINA11	14	94443107	Missense_Mutation	SNP	T	C3L-00080_TP	514306	94443107	12600611	572	2783											
BDKRB1	0	.	GRCh38	chr14	96264401	96264418	+	In_Frame_Del	DEL	GCGGGGGCCGCAAGGATA	GCGGGGGCCGCAAGGATA	-																															ggaggtcagcaggacaaggtGcgggggccgcaaggatagca																								novel		C3L-00080_TP	C3L-00080_NB	GCGGGGGCCGCAAGGATA	GCGGGGGCCGCAAGGATA																c.721_738delGGGGGCCGCAAGGATAGC	p.Gly241_Ser246del	p.G241_S246del	ENST00000216629	3/3	315	271	44	179	179	0	sindel-varindel-pindel	BDKRB1,inframe_deletion,p.Gly241_Ser246del,ENST00000216629,NM_000710.3;BDKRB1,inframe_deletion,p.Gly241_Ser246del,ENST00000611804,;BDKRB1,splice_region_variant,,ENST00000553356,;RP11-404P21.8,downstream_gene_variant,,ENST00000553811,;RP11-404P21.3,intron_variant,,ENST00000553638,;BDKRB1,upstream_gene_variant,,ENST00000557122,;RP11-404P21.8,downstream_gene_variant,,ENST00000555847,;	-	ENST00000216629	Transcript	inframe_deletion	1325-1342/1687	719-736/1062	240-246/353	CGGRKDS/C	tGCGGGGGCCGCAAGGATAgc/tgc		1		1	BDKRB1	HGNC	HGNC:1029	protein_coding	YES	CCDS9943.1	ENSP00000216629	P46663		UPI0000000348	NM_000710.3			3/3		PROSITE_profiles:PS50262,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF28,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00993																	MODERATE	1	deletion	1	2		1										PASS		.	.												-	7	5	7	96264401	96264401	GCGGGGGCCGCAAGGATA	-	1	0	1	0	1	0	0	0	0	1539	1333	46	0		0	BDKRB1	14	96264401	In_Frame_Del	DEL	GCGGGGGCCGCAAGGATA	C3L-00080_TP	1821294	96264401	10779317	573	2784											
EML1	0	.	GRCh38	chr14	99917788	99917788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaatattttaggatccaGctcagtcttctggttttcat	10	18	6	7	0	4	0	2	0	2	0	5	1	5	1	1	2	1	2	1	2	4	7	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1816G>T	p.Ala606Ser	p.A606S	ENST00000334192	17/23	253	194	59	147	146	1	strelka-varscan-mutect	EML1,missense_variant,p.Ala587Ser,ENST00000262233,NM_004434.2;EML1,missense_variant,p.Ala606Ser,ENST00000334192,NM_001008707.1;EML1,missense_variant,p.Ala575Ser,ENST00000327921,;EML1,intron_variant,,ENST00000557313,;EML1,downstream_gene_variant,,ENST00000554111,;	T	ENST00000334192	Transcript	missense_variant	1950/4064	1816/2505	606/834	A/S	Gct/Tct		1		1	EML1	HGNC	HGNC:3330	protein_coding	YES	CCDS32154.1	ENSP00000334314	O00423		UPI00004A074E	NM_001008707.1	tolerated(0.08)		17/23		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF22,SMART_domains:SM00320,Superfamily_domains:SSF50998																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	7	99917788	99917788	G	T	1	0	0	0	0	1	0	0	0	4939	971	34	2		2	EML1	14	99917788	Missense_Mutation	SNP	G	C3L-00080_TP	3653387	99917788	7125930	574	2785											
RTL1	0	.	GRCh38	chr14	100884024	100884024	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgttttcctgcagtagAgctttggcccattctaatgc	6	14	11	10	0	1	1	0	0	1	1	2	1	2	1	2	2	3	5	2	2	2	6	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.765T>C	p.=	p.A255A	ENST00000534062	1/1	307	223	84	172	172	0	strelka-varscan-mutect	RTL1,synonymous_variant,p.=,ENST00000534062,NM_001134888.2;MEG8,intron_variant,,ENST00000637474,;MIR431,downstream_gene_variant,,ENST00000385266,;MIR127,downstream_gene_variant,,ENST00000384876,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR433,downstream_gene_variant,,ENST00000384837,;MIR136,upstream_gene_variant,,ENST00000385207,;	G	ENST00000534062	Transcript	synonymous_variant	824/4193	765/4077	255/1358	A	gcT/gcC		1		-1	RTL1	HGNC	HGNC:14665	protein_coding	YES	CCDS53910.1	ENSP00000435342	A6NKG5		UPI00001D7B9E	NM_001134888.2			1/1		Pfam_domain:PF16297,hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF9																	LOW	1	SNV				1										PASS		.	.												G	2	3	7	100884024	100884024	A	G	1	0	0	0	0	0	0	0	1	13984	291	11	5		5	RTL1	14	100884024	Silent	SNP	A	C3L-00080_TP	966236	100884024	6159694	575	2786											
PPP2R5C	0	.	GRCh38	chr14	101856885	101856885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacccagaagtagtccatatGgtaagtgattacagtttaac	14	12	8	7	0	0	2	0	1	0	1	1	2	1	2	2	1	3	3	2	1	7	7	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.387G>A	p.Met129Ile	p.M129I	ENST00000422945	4/16	141	124	17	103	103	0	strelka-varscan-mutect	PPP2R5C,missense_variant,p.Met129Ile,ENST00000422945,NM_001161725.1;PPP2R5C,missense_variant,p.Met98Ile,ENST00000334743,NM_002719.3;PPP2R5C,missense_variant,p.Met153Ile,ENST00000328724,NM_001161726.1;PPP2R5C,missense_variant,p.Met98Ile,ENST00000350249,NM_178586.2;PPP2R5C,missense_variant,p.Met127Ile,ENST00000557268,;PPP2R5C,missense_variant,p.Met98Ile,ENST00000445439,NM_178587.2;PPP2R5C,missense_variant,p.Met98Ile,ENST00000557095,;PPP2R5C,missense_variant,p.Met98Ile,ENST00000557621,;PPP2R5C,non_coding_transcript_exon_variant,,ENST00000556373,;PPP2R5C,downstream_gene_variant,,ENST00000556493,;PPP2R5C,splice_region_variant,,ENST00000553730,;PPP2R5C,splice_region_variant,,ENST00000556307,;	A	ENST00000422945	Transcript	missense_variant,splice_region_variant	483/4481	387/1668	129/555	M/I	atG/atA		1		1	PPP2R5C	HGNC	HGNC:9311	protein_coding	YES	CCDS53912.1	ENSP00000412324	Q13362		UPI0001A7AE62	NM_001161725.1	deleterious(0)		4/16		hmmpanther:PTHR10257,hmmpanther:PTHR10257:SF22,PIRSF_domain:PIRSF028043,Pfam_domain:PF01603,Superfamily_domains:SSF48371																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	7	101856885	101856885	G	A	1	0	0	0	0	1	0	0	0	12516	1362	47	3		3	PPP2R5C	14	101856885	Missense_Mutation	SNP	G	C3L-00080_TP	972861	101856885	5186833	576	2787											
AHNAK2	0	.	GRCh38	chr14	104942262	104942262	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtctatctggggaccctTgaggtccactttgggtacct	7	12	11	11	1	2	1	0	1	2	0	3	2	3	2	3	4	2	1	3	4	3	4	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.13189A>C	p.Lys4397Gln	p.K4397Q	ENST00000333244	7/7	719	641	78	332	332	0	strelka-varscan-mutect	AHNAK2,missense_variant,p.Lys4397Gln,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;PLD4,downstream_gene_variant,,ENST00000392593,NM_138790.2;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	G	ENST00000333244	Transcript	missense_variant	13309/18254	13189/17388	4397/5795	K/Q	Aag/Cag		1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	deleterious(0.01)		7/7																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	7	104942262	104942262	T	G	1	0	0	0	0	1	0	0	0	492	1821	63	5		5	AHNAK2	14	104942262	Missense_Mutation	SNP	T	C3L-00080_TP	3085377	104942262	2101456	577	2788											
GOLGA6L22	0	.	GRCh38	chr15	22466105	22466105	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcaggaggagaagatacgGgagcaggaggagaagatacg	16	2	19	4	2	0	4	0	0	0	4	0	10	0	7	0	5	4	2	0	5	4	2	rs770558395		C3L-00080_TP	C3L-00080_NB	G	G																c.1713G>C	p.=	p.R571R	ENST00000622895	8/9	183	131	52	169	169	0	strelka-varscan-mutect	GOLGA6L22,synonymous_variant,p.=,ENST00000622895,;GOLGA6L22,synonymous_variant,p.=,ENST00000620691,;	C	ENST00000622895	Transcript	synonymous_variant	1713/4178	1713/2433	571/810	R	cgG/cgC	rs770558395	1		1	GOLGA6L22	HGNC	HGNC:50289	protein_coding	YES		ENSP00000483673		A0A087X0V3	UPI0004620C46				8/9		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs770558395	.												C	2	2	7	22466105	22466105	G	C	1	0	0	0	0	0	0	0	1	6441	1219	43	4		4	GOLGA6L22	15	22466105	Silent	SNP	G	C3L-00080_TP		22466105	79525084	578	2789											
MAGEL2	0	.	GRCh38	chr15	23646486	23646486	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagggcggatgggtggtggGccagggcggatgggcggggg	4	4	26	7	3	0	0	0	0	0	0	0	2	0	2	2	10	0	0	2	10	0	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1257C>A	p.=	p.G419G	ENST00000532292	1/1	20	14	6	19	19	0	strelka-varscan-mutect	MAGEL2,synonymous_variant,p.=,ENST00000532292,NM_019066.4;	T	ENST00000532292	Transcript	synonymous_variant	1356/4298	1257/3750	419/1249	G	ggC/ggA		1		-1	MAGEL2	HGNC	HGNC:6814	protein_coding	YES	CCDS73700.1	ENSP00000433433	Q9UJ55		UPI0001B3CB28	NM_019066.4			1/1		Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		.	.												T	2	4	7	23646486	23646486	G	T	1	0	0	0	0	0	0	0	1	9107	1190	42	2		2	MAGEL2	15	23646486	Silent	SNP	G	C3L-00080_TP	1180381	23646486	78344703	579	2790											
AC124312.1	0	.	GRCh38	chr15	25092172	25092172	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgagtgctggctctgggTtcccttgttccccagaggta	4	13	12	12	0	1	2	0	1	1	1	3	2	3	2	4	3	1	5	4	3	1	5	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.206A>C	p.Asn69Thr	p.N69T	ENST00000623624	1/1	222	198	24	222	222	0	strelka-varscan-mutect	AC124312.1,missense_variant,p.Asn69Thr,ENST00000623624,;RP11-701H24.4,downstream_gene_variant,,ENST00000567527,;SNORD116-22,downstream_gene_variant,,ENST00000384430,;SNORD116-21,downstream_gene_variant,,ENST00000384507,;SNORD116-20,downstream_gene_variant,,ENST00000384529,;SNORD116-24,upstream_gene_variant,,ENST00000384549,;SNORD116-23,downstream_gene_variant,,ENST00000384645,;SNHG14,intron_variant,,ENST00000546682,;SNHG14,intron_variant,,ENST00000549804,;SNHG14,intron_variant,,ENST00000553108,;	G	ENST00000623624	Transcript	missense_variant	206/418	206/417	69/138	N/T	aAc/aCc		1		-1	AC124312.1	Clone_based_ensembl_gene		protein_coding	YES		ENSP00000485422		A0A0B4J2H5	UPI000006F2CD				1/1																			MODERATE		SNV				1										PASS		.	.												G	3	3	7	25092172	25092172	T	G	1	0	0	0	0	1	0	0	0	141	1725	60	5		5	AC124312.1	15	25092172	Missense_Mutation	SNP	T	C3L-00080_TP	1445686	25092172	76899017	580	2791											
GABRB3	0	.	GRCh38	chr15	26580415	26580415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggtaacagccttgtcccCgcctcgccagtaaaactcaa	10	8	7	16	3	1	0	1	0	0	0	4	0	3	0	6	1	3	2	6	1	4	3			C3L-00080_TP	C3L-00080_NB	C	C																c.586G>T	p.Gly196Trp	p.G196W	ENST00000311550	6/9	648	550	98	619	617	2	strelka-varscan-mutect	GABRB3,missense_variant,p.Gly252Trp,ENST00000541819,;GABRB3,missense_variant,p.Gly111Trp,ENST00000622697,NM_001278631.1;GABRB3,missense_variant,p.Gly196Trp,ENST00000311550,NM_000814.5;GABRB3,missense_variant,p.Gly111Trp,ENST00000628124,NM_001191320.1;GABRB3,missense_variant,p.Gly111Trp,ENST00000636466,;GABRB3,missense_variant,p.Gly196Trp,ENST00000299267,NM_021912.4;GABRB3,missense_variant,p.Gly163Trp,ENST00000638099,;GABRB3,missense_variant,p.Gly125Trp,ENST00000400188,NM_001191321.2;GABRB3,missense_variant,p.Gly111Trp,ENST00000545868,;GABRB3,non_coding_transcript_exon_variant,,ENST00000635832,;GABRB3,non_coding_transcript_exon_variant,,ENST00000555094,;GABRB3,downstream_gene_variant,,ENST00000636512,;GABRB3,missense_variant,p.Gly91Trp,ENST00000635994,;GABRB3,3_prime_UTR_variant,,ENST00000555632,;GABRB3,3_prime_UTR_variant,,ENST00000554556,;GABRB3,non_coding_transcript_exon_variant,,ENST00000557765,;	A	ENST00000311550	Transcript	missense_variant	698/5781	586/1422	196/473	G/W	Ggg/Tgg	COSM5362998,COSM5362999,COSM5363000	1		-1	GABRB3	HGNC	HGNC:4083	protein_coding	YES	CCDS10019.1	ENSP00000308725	P28472		UPI000012AFB0	NM_000814.5	deleterious(0)		6/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF571,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	7	26580415	26580415	C	A	1	0	0	0	0	1	0	0	0	6039	652	23	1		1	GABRB3	15	26580415	Missense_Mutation	SNP	C	C3L-00080_TP	1488243	26580415	75410774	581	2792											
OCA2	0	.	GRCh38	chr15	28014813	28014813	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtagacgcccgcgaggatgGccgtcgcgatggtcacctgg	6	6	16	13	7	1	1	1	0	0	1	2	4	1	2	3	4	0	1	3	4	1	1	rs34010619		C3L-00080_TP	C3L-00080_NB	G	G																c.1007C>G	p.Ala336Gly	p.A336G	ENST00000354638	9/24	258	160	98	288	288	0	strelka-varscan-mutect	OCA2,missense_variant,p.Ala336Gly,ENST00000354638,NM_000275.2;OCA2,missense_variant,p.Ala336Gly,ENST00000353809,NM_001300984.1;OCA2,downstream_gene_variant,,ENST00000431101,;OCA2,downstream_gene_variant,,ENST00000445578,;	C	ENST00000354638	Transcript	missense_variant	1163/3186	1007/2517	336/838	A/G	gCc/gGc	rs34010619	1		-1	OCA2	HGNC	HGNC:8101	protein_coding	YES	CCDS10020.1	ENSP00000346659	Q04671		UPI000013D158	NM_000275.2	deleterious(0)		9/24		Transmembrane_helices:TMhelix,hmmpanther:PTHR10283:SF67,hmmpanther:PTHR10283																	MODERATE	1	SNV	1			1										PASS		rs34010619	.												C	3	2	7	28014813	28014813	G	C	1	0	0	0	0	1	0	0	0	10892	1203	42	4		4	OCA2	15	28014813	Missense_Mutation	SNP	G	C3L-00080_TP	1434398	28014813	73976376	582	2793											
GOLGA8M	0	.	GRCh38	chr15	28705648	28705648	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtttttgacctgggcctgGagctctcctgccactctctc	3	15	9	14	0	2	1	0	1	2	0	5	2	2	2	4	2	2	2	4	2	0	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.966C>A	p.=	p.L322L	ENST00000563027	12/19	438	322	116	531	531	0	strelka-varscan-mutect	GOLGA8M,synonymous_variant,p.=,ENST00000563027,NM_001282468.1;RN7SL719P,upstream_gene_variant,,ENST00000620196,;GOLGA8M,downstream_gene_variant,,ENST00000563213,;	T	ENST00000563027	Transcript	synonymous_variant	966/1899	966/1899	322/632	L	ctC/ctA		1		-1	GOLGA8M	HGNC	HGNC:44404	protein_coding	YES	CCDS61572.1	ENSP00000456927	H3BSY2		UPI0001A5E7A0	NM_001282468.1			12/19		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15070,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	7	28705648	28705648	G	T	1	0	0	0	0	0	0	0	1	6454	1161	41	2		2	GOLGA8M	15	28705648	Silent	SNP	G	C3L-00080_TP	690835	28705648	73285541	583	2794											
GOLGA8T	0	.	GRCh38	chr15	30144863	30144863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttcatccaccactggcgaGacagacgccatcagtgagtg	10	7	11	13	2	2	3	2	1	0	2	3	4	3	3	3	1	0	1	3	1	0	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1453G>A	p.Asp485Asn	p.D485N	ENST00000569052	16/19	198	159	39	181	181	0	strelka-varscan-mutect	GOLGA8T,missense_variant,p.Asp485Asn,ENST00000569052,;RN7SL469P,downstream_gene_variant,,ENST00000621501,;	A	ENST00000569052	Transcript	missense_variant	1453/1896	1453/1896	485/631	D/N	Gac/Aac		1		1	GOLGA8T	HGNC	HGNC:44410	protein_coding	YES		ENSP00000455826		H3BQL2	UPI000246730F		tolerated(0.15)		16/19		hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48																	MODERATE	1	SNV	5			1										PASS		rs1168516275	.												A	3	1	7	30144863	30144863	G	A	1	0	0	0	0	1	0	0	0	6458	942	33	3		3	GOLGA8T	15	30144863	Missense_Mutation	SNP	G	C3L-00080_TP	1439215	30144863	71846326	584	2795											
GOLGA8H	0	.	GRCh38	chr15	30613134	30613134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaacatctggacagtgaggGggaggaggcacctcggccca	11	4	16	10	1	1	2	0	1	1	1	2	5	1	5	2	6	1	1	2	6	1	0	rs752641133		C3L-00080_TP	C3L-00080_NB	G	G																c.1307G>T	p.Gly436Val	p.G436V	ENST00000566740	15/19	178	162	16	186	186	0	varscan-mutect	GOLGA8H,missense_variant,p.Gly436Val,ENST00000566740,NM_001282490.1;RP11-932O9.9,upstream_gene_variant,,ENST00000602594,;RP11-932O9.7,downstream_gene_variant,,ENST00000501830,;RP11-932O9.8,upstream_gene_variant,,ENST00000602595,;RN7SL628P,downstream_gene_variant,,ENST00000619139,;	T	ENST00000566740	Transcript	missense_variant	1307/1899	1307/1899	436/632	G/V	gGg/gTg	rs752641133,COSM5292880	1		1	GOLGA8H	HGNC	HGNC:37443	protein_coding	YES	CCDS61576.1	ENSP00000456894	P0CJ92		UPI0001A5E7A5	NM_001282490.1	deleterious(0.03)		15/19		hmmpanther:PTHR10881:SF48,hmmpanther:PTHR10881,Pfam_domain:PF15070											0,1						MODERATE		SNV	5		0,1	1										PASS		rs752641133	.												T	3	4	7	30613134	30613134	G	T	1	0	0	0	0	1	0	0	0	6451	1232	43	2		2	GOLGA8H	15	30613134	Missense_Mutation	SNP	G	C3L-00080_TP	468271	30613134	71378055	585	2796											
ARHGAP11A	0	.	GRCh38	chr15	32624349	32624349	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaataaagctacactgttGctctcctgtcttctggctga	10	13	8	10	0	3	2	0	1	3	1	4	2	3	2	1	1	3	4	1	1	5	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.474G>C	p.Leu158Phe	p.L158F	ENST00000361627	4/12	441	329	112	561	561	0	strelka-varscan-mutect	ARHGAP11A,missense_variant,p.Leu158Phe,ENST00000361627,NM_014783.4;ARHGAP11A,missense_variant,p.Leu158Phe,ENST00000567348,NM_199357.1;ARHGAP11A,missense_variant,p.Leu158Phe,ENST00000563864,;ARHGAP11A,5_prime_UTR_variant,,ENST00000565905,NM_001286479.1;ARHGAP11A,5_prime_UTR_variant,,ENST00000543522,NM_001286480.1;ARHGAP11A,upstream_gene_variant,,ENST00000562481,;	C	ENST00000361627	Transcript	missense_variant	1196/5898	474/3072	158/1023	L/F	ttG/ttC		1		1	ARHGAP11A	HGNC	HGNC:15783	protein_coding	YES	CCDS10028.1	ENSP00000355090	Q6P4F7		UPI0000071553	NM_014783.4	deleterious(0.03)		4/12		PROSITE_profiles:PS50238,hmmpanther:PTHR15670:SF5,hmmpanther:PTHR15670,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	32624349	32624349	G	C	1	0	0	0	0	1	0	0	0	987	1310	46	4		4	ARHGAP11A	15	32624349	Missense_Mutation	SNP	G	C3L-00080_TP	2011215	32624349	69366840	586	2797											
RYR3	0	.	GRCh38	chr15	33662359	33662359	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggtttctatgacctgcTcatcagcatccacctggcca	8	12	7	14	0	4	1	2	1	2	0	5	1	5	1	4	2	2	3	4	2	1	2	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.4829T>A	p.Leu1610His	p.L1610H	ENST00000634891	35/104	101	82	19	94	94	0	strelka-varscan-mutect	RYR3,missense_variant,p.Leu1610His,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Leu1610His,ENST00000622037,;RYR3,missense_variant,p.Leu1610His,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Leu1610His,ENST00000389232,;RYR3,missense_variant,p.Leu1610His,ENST00000634418,;	A	ENST00000634891	Transcript	missense_variant	4930/15591	4829/14613	1610/4870	L/H	cTc/cAc		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	deleterious(0)		35/104		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	33662359	33662359	T	A	1	0	0	0	0	1	0	0	0	14030	1551	54	4		4	RYR3	15	33662359	Missense_Mutation	SNP	T	C3L-00080_TP	1038010	33662359	68328830	587	2798											
RYR3	0	.	GRCh38	chr15	33845027	33845027	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatccataccatcatcTctctagtctgtgtggtgggc	7	13	8	13	0	5	0	2	0	3	0	7	0	6	0	3	2	1	0	3	2	2	2	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.13462T>G	p.Ser4488Ala	p.S4488A	ENST00000634891	93/104	270	222	48	311	311	0	strelka-varscan-mutect	RYR3,missense_variant,p.Ser4488Ala,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Ser4491Ala,ENST00000622037,;RYR3,missense_variant,p.Ser4483Ala,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Ser4487Ala,ENST00000389232,;RYR3,missense_variant,p.Ser4477Ala,ENST00000634418,;RYR3,missense_variant,p.Ser233Ala,ENST00000634730,;RYR3,missense_variant,p.Ser86Ala,ENST00000636568,;RYR3,non_coding_transcript_exon_variant,,ENST00000635749,;RYR3,non_coding_transcript_exon_variant,,ENST00000638052,;RYR3,non_coding_transcript_exon_variant,,ENST00000637522,;RYR3,upstream_gene_variant,,ENST00000559917,;RYR3,upstream_gene_variant,,ENST00000559333,;RYR3,downstream_gene_variant,,ENST00000636656,;RYR3,downstream_gene_variant,,ENST00000637615,;RYR3,missense_variant,p.Ser269Ala,ENST00000636845,;RYR3,3_prime_UTR_variant,,ENST00000635790,;RYR3,3_prime_UTR_variant,,ENST00000637948,;	G	ENST00000634891	Transcript	missense_variant	13563/15591	13462/14613	4488/4870	S/A	Tct/Gct		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	tolerated(0.24)		93/104		Pfam_domain:PF06459,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	33845027	33845027	T	G	1	0	0	0	0	1	0	0	0	14030	1551	54	5		5	RYR3	15	33845027	Missense_Mutation	SNP	T	C3L-00080_TP	182668	33845027	68146162	588	2799											
GJD2	0	.	GRCh38	chr15	34753199	34753199	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtacacaccattatgatcTggaagacccagtaacgtatg	13	9	10	9	1	1	2	0	1	1	1	1	3	1	3	2	2	2	3	2	2	5	4	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.245A>G	p.Gln82Arg	p.Q82R	ENST00000290374	2/2	339	275	64	335	334	1	strelka-varscan-mutect	GJD2,missense_variant,p.Gln82Arg,ENST00000290374,NM_020660.2;RP11-814P5.1,upstream_gene_variant,,ENST00000503496,;RP11-814P5.1,upstream_gene_variant,,ENST00000558707,;	C	ENST00000290374	Transcript	missense_variant	722/2889	245/966	82/321	Q/R	cAg/cGg		1		-1	GJD2	HGNC	HGNC:19154	protein_coding	YES	CCDS10040.1	ENSP00000290374	Q9UKL4		UPI00001287E3	NM_020660.2	deleterious(0)		2/2		Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF47,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	34753199	34753199	T	C	1	0	0	0	0	1	0	0	0	6294	1580	55	5		5	GJD2	15	34753199	Missense_Mutation	SNP	T	C3L-00080_TP	908172	34753199	67237990	589	2800											
EIF2AK4	0	.	GRCh38	chr15	40017122	40017122	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttataggtcttgatcaatttGggcttggtttacaaggtgca	9	16	11	5	0	2	1	1	1	1	0	2	1	2	1	0	4	2	3	0	4	5	7	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.3945G>C	p.Leu1315Phe	p.L1315F	ENST00000263791	29/39	133	99	34	157	157	0	strelka-varscan-mutect	EIF2AK4,missense_variant,p.Leu1315Phe,ENST00000263791,NM_001013703.3;EIF2AK4,missense_variant,p.Leu1093Phe,ENST00000560855,;EIF2AK4,non_coding_transcript_exon_variant,,ENST00000558629,;EIF2AK4,non_coding_transcript_exon_variant,,ENST00000558557,;EIF2AK4,upstream_gene_variant,,ENST00000559032,;EIF2AK4,upstream_gene_variant,,ENST00000558743,;	C	ENST00000263791	Transcript	missense_variant	3988/5499	3945/4950	1315/1649	L/F	ttG/ttC		1		1	EIF2AK4	HGNC	HGNC:19687	protein_coding	YES	CCDS42016.1	ENSP00000263791	Q9P2K8		UPI0000160791	NM_001013703.3	tolerated(0.16)		29/39		Gene3D:3.30.930.10,Pfam_domain:PF13393,Superfamily_domains:SSF55681																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	7	40017122	40017122	G	C	1	0	0	0	0	1	0	0	0	4835	1339	47	4		4	EIF2AK4	15	40017122	Missense_Mutation	SNP	G	C3L-00080_TP	5263923	40017122	61974067	590	2801											
MAPKBP1	0	.	GRCh38	chr15	41812931	41812931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacaggtgaatgccactGtgcccttgctgggccgctca	6	9	11	15	1	1	1	1	1	0	0	2	1	2	1	4	2	3	2	4	2	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.649G>T	p.Val217Leu	p.V217L	ENST00000456763	8/32	64	54	10	45	45	0	strelka-varscan-mutect	MAPKBP1,missense_variant,p.Val217Leu,ENST00000457542,NM_014994.2;MAPKBP1,missense_variant,p.Val217Leu,ENST00000456763,NM_001128608.1;MAPKBP1,missense_variant,p.Val217Leu,ENST00000514566,NM_001265611.1;MAPKBP1,downstream_gene_variant,,ENST00000510535,;MAPKBP1,downstream_gene_variant,,ENST00000627631,;MAPKBP1,downstream_gene_variant,,ENST00000507762,;MAPKBP1,missense_variant,p.Val217Leu,ENST00000512970,;MAPKBP1,3_prime_UTR_variant,,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000502292,;MAPKBP1,downstream_gene_variant,,ENST00000515164,;MAPKBP1,upstream_gene_variant,,ENST00000503526,;MAPKBP1,downstream_gene_variant,,ENST00000507147,;	T	ENST00000456763	Transcript	missense_variant	845/7158	649/4545	217/1514	V/L	Gtg/Ttg		1		1	MAPKBP1	HGNC	HGNC:29536	protein_coding	YES	CCDS45239.1	ENSP00000393099	O60336		UPI00002375CB	NM_001128608.1	deleterious(0)		8/32		hmmpanther:PTHR22847:SF432,hmmpanther:PTHR22847																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	41812931	41812931	G	T	1	0	0	0	0	1	0	0	0	9216	1377	48	2		2	MAPKBP1	15	41812931	Missense_Mutation	SNP	G	C3L-00080_TP	1795809	41812931	60178258	591	2802											
FBN1	0	.	GRCh38	chr15	48432953	48432953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgttcacacatcggaaggCacagagcagaggattctggg	12	7	14	8	1	2	2	1	0	1	2	3	4	2	4	0	4	1	3	0	4	1	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.6652G>T	p.Ala2218Ser	p.A2218S	ENST00000316623	55/66	441	276	165	389	389	0	strelka-varscan-mutect	FBN1,missense_variant,p.Ala2218Ser,ENST00000316623,NM_000138.4;FBN1,missense_variant,p.Ala654Ser,ENST00000559133,;FBN1,3_prime_UTR_variant,,ENST00000537463,;FBN1,upstream_gene_variant,,ENST00000560720,;FBN1,downstream_gene_variant,,ENST00000560820,;	A	ENST00000316623	Transcript	missense_variant	7108/11756	6652/8616	2218/2871	A/S	Gcc/Tcc		1		-1	FBN1	HGNC	HGNC:3603	protein_coding	YES	CCDS32232.1	ENSP00000325527	P35555		UPI0000EE4EBC	NM_000138.4	deleterious(0.01)		55/66		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		rs1347008355	.												A	3	1	7	48432953	48432953	C	A	1	0	0	0	0	1	0	0	0	5565	710	25	2		2	FBN1	15	48432953	Missense_Mutation	SNP	C	C3L-00080_TP	6620022	48432953	53558236	592	2803											
MYO5C	0	.	GRCh38	chr15	52242112	52242112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcattgtgatggtggccatgCgaatcaactgatacaggctg	10	10	13	8	1	1	2	1	2	0	0	1	3	1	2	1	3	3	2	1	3	3	2	rs764763786		C3L-00080_TP	C3L-00080_NB	C	C																c.2492G>T	p.Arg831Leu	p.R831L	ENST00000261839	20/41	146	130	16	146	146	0	strelka-varscan-mutect	MYO5C,missense_variant,p.Arg831Leu,ENST00000261839,NM_018728.3;MYO5C,non_coding_transcript_exon_variant,,ENST00000559434,;MYO5C,intron_variant,,ENST00000560809,;MYO5C,intron_variant,,ENST00000558902,;	A	ENST00000261839	Transcript	missense_variant	2654/6971	2492/5229	831/1742	R/L	cGc/cTc	rs764763786	1		-1	MYO5C	HGNC	HGNC:7604	protein_coding	YES	CCDS42036.1	ENSP00000261839	Q9NQX4		UPI000013D20E	NM_018728.3	tolerated(0.11)		20/41		PROSITE_profiles:PS50096,PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF313,Pfam_domain:PF00612,Gene3D:1wdcA00,SMART_domains:SM00015,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs764763786	.												A	3	1	7	52242112	52242112	C	A	1	0	0	0	0	1	0	0	0	10081	768	27	1		1	MYO5C	15	52242112	Missense_Mutation	SNP	C	C3L-00080_TP	3809159	52242112	49749077	593	2804											
SLTM	0	.	GRCh38	chr15	58889430	58889430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaataaaatgagtaactacCtatgatctacatcacgtggg	15	10	9	7	1	2	2	1	2	1	0	2	3	2	3	1	2	3	1	1	2	7	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2204G>T	p.Arg735Met	p.R735M	ENST00000380516	16/21	180	133	47	176	176	0	strelka-varscan-mutect	SLTM,missense_variant,p.Arg735Met,ENST00000380516,NM_024755.2,NM_001013843.1;SLTM,missense_variant,p.Arg301Met,ENST00000432750,;SLTM,missense_variant,p.Ser21Ile,ENST00000557791,;RNF111,intron_variant,,ENST00000559757,;SLTM,downstream_gene_variant,,ENST00000249736,;SLTM,upstream_gene_variant,,ENST00000560494,;AC025918.2,upstream_gene_variant,,ENST00000452467,;SLTM,splice_region_variant,,ENST00000492526,;SLTM,splice_region_variant,,ENST00000557924,;SLTM,non_coding_transcript_exon_variant,,ENST00000558734,;SLTM,upstream_gene_variant,,ENST00000493062,;SLTM,downstream_gene_variant,,ENST00000558756,;SLTM,upstream_gene_variant,,ENST00000558052,;SLTM,downstream_gene_variant,,ENST00000497088,;SLTM,downstream_gene_variant,,ENST00000473359,;SLTM,upstream_gene_variant,,ENST00000560695,;	A	ENST00000380516	Transcript	missense_variant,splice_region_variant	2292/4147	2204/3105	735/1034	R/M	aGg/aTg		1		-1	SLTM	HGNC	HGNC:20709	protein_coding	YES	CCDS10168.2	ENSP00000369887	Q9NWH9		UPI0000039EA4	NM_024755.2,NM_001013843.1	deleterious(0)		16/21		Low_complexity_(Seg):seg,hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	58889430	58889430	C	A	1	0	0	0	0	1	0	0	0	15043	695	24	2		2	SLTM	15	58889430	Missense_Mutation	SNP	C	C3L-00080_TP	6647318	58889430	43101759	594	2805											
SLTM	0	.	GRCh38	chr15	58889453	58889453	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatctacatcacgtgggcgTttcaaggaattccttttttc	8	16	8	9	2	3	1	2	1	1	0	5	2	4	2	1	2	1	1	1	2	3	6			C3L-00080_TP	C3L-00080_NB	T	T																c.2181A>C	p.Lys727Asn	p.K727N	ENST00000380516	16/21	249	190	59	257	257	0	strelka-varscan-mutect	SLTM,missense_variant,p.Lys727Asn,ENST00000380516,NM_024755.2,NM_001013843.1;SLTM,missense_variant,p.Lys293Asn,ENST00000432750,;SLTM,missense_variant,p.Lys13Asn,ENST00000557791,;RNF111,intron_variant,,ENST00000559757,;SLTM,downstream_gene_variant,,ENST00000249736,;SLTM,upstream_gene_variant,,ENST00000560494,;AC025918.2,upstream_gene_variant,,ENST00000452467,;SLTM,3_prime_UTR_variant,,ENST00000492526,;SLTM,3_prime_UTR_variant,,ENST00000557924,;SLTM,non_coding_transcript_exon_variant,,ENST00000558734,;SLTM,upstream_gene_variant,,ENST00000493062,;SLTM,downstream_gene_variant,,ENST00000558756,;SLTM,upstream_gene_variant,,ENST00000558052,;SLTM,downstream_gene_variant,,ENST00000497088,;SLTM,downstream_gene_variant,,ENST00000473359,;SLTM,upstream_gene_variant,,ENST00000560695,;	G	ENST00000380516	Transcript	missense_variant	2269/4147	2181/3105	727/1034	K/N	aaA/aaC	COSM339626	1		-1	SLTM	HGNC	HGNC:20709	protein_coding	YES	CCDS10168.2	ENSP00000369887	Q9NWH9		UPI0000039EA4	NM_024755.2,NM_001013843.1	deleterious(0)		16/21		hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF5											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	7	58889453	58889453	T	G	1	0	0	0	0	1	0	0	0	15043	1722	60	5		5	SLTM	15	58889453	Missense_Mutation	SNP	T	C3L-00080_TP	23	58889453	43101736	595	2806											
HERC1	0	.	GRCh38	chr15	63732984	63732984	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcagccaggtgggtatcTggatggcagctctgagtgcc	7	11	14	9	0	3	1	1	1	2	0	3	2	3	2	2	4	3	3	2	4	1	2	rs755656959		C3L-00080_TP	C3L-00080_NB	T	T																c.2808A>T	p.=	p.P936P	ENST00000443617	14/78	399	319	80	381	381	0	strelka-varscan-mutect	HERC1,synonymous_variant,p.=,ENST00000443617,NM_003922.3;HERC1,intron_variant,,ENST00000561400,;HERC1,downstream_gene_variant,,ENST00000560519,;	A	ENST00000443617	Transcript	synonymous_variant	2896/15137	2808/14586	936/4861	P	ccA/ccT	rs755656959	1		-1	HERC1	HGNC	HGNC:4867	protein_coding	YES	CCDS45277.1	ENSP00000390158	Q15751	A0A024R5W0	UPI0000212760	NM_003922.3			14/78																			LOW	1	SNV	1			1										PASS		rs755656959	.												A	2	1	7	63732984	63732984	T	A	1	0	0	0	0	0	0	0	1	6941	1567	55	4		4	HERC1	15	63732984	Silent	SNP	T	C3L-00080_TP	4843531	63732984	38258205	596	2807											
PDCD7	0	.	GRCh38	chr15	65129090	65129090	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccaaagcccgtagaatGtccaccattcttttggtatc	9	14	6	12	1	2	1	0	0	2	1	5	1	3	1	4	1	1	2	4	1	4	6			C3L-00080_TP	C3L-00080_NB	G	G																c.951C>T	p.=	p.D317D	ENST00000204549	2/5	230	197	33	214	214	0	strelka-varscan-mutect	PDCD7,synonymous_variant,p.=,ENST00000204549,NM_005707.1;PDCD7,synonymous_variant,p.=,ENST00000560313,;	A	ENST00000204549	Transcript	synonymous_variant	1006/2851	951/1458	317/485	D	gaC/gaT	COSM964002	1		-1	PDCD7	HGNC	HGNC:8767	protein_coding	YES	CCDS10201.1	ENSP00000204549	Q8N8D1	Q6IEG3	UPI00000731D7	NM_005707.1			2/5		Pfam_domain:PF16021											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	7	65129090	65129090	G	A	1	0	0	0	0	0	0	0	1	11713	1368	48	3		3	PDCD7	15	65129090	Silent	SNP	G	C3L-00080_TP	1396106	65129090	36862099	597	2808											
IGDCC4	0	.	GRCh38	chr15	65388470	65388470	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagcttctcctggagcgTgatcacatcctgcaggcggg	7	9	13	12	2	2	2	1	2	1	0	4	3	3	3	2	3	3	2	2	3	0	1	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.2824A>T	p.Thr942Ser	p.T942S	ENST00000352385	16/20	244	200	44	214	214	0	strelka-varscan-mutect	IGDCC4,missense_variant,p.Thr942Ser,ENST00000352385,NM_020962.2;IGDCC4,upstream_gene_variant,,ENST00000558048,;IGDCC4,non_coding_transcript_exon_variant,,ENST00000559327,;IGDCC4,upstream_gene_variant,,ENST00000560319,;IGDCC4,upstream_gene_variant,,ENST00000561309,;	A	ENST00000352385	Transcript	missense_variant	3034/6508	2824/3753	942/1250	T/S	Acg/Tcg		1		-1	IGDCC4	HGNC	HGNC:13770	protein_coding	YES	CCDS10206.1	ENSP00000319623	Q8TDY8		UPI000006F31C	NM_020962.2	deleterious(0.03)		16/20		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF40,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	65388470	65388470	T	A	1	0	0	0	0	1	0	0	0	7475	1696	59	4		4	IGDCC4	15	65388470	Missense_Mutation	SNP	T	C3L-00080_TP	259380	65388470	36602719	598	2809											
ZWILCH	0	.	GRCh38	chr15	66519011	66519011	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgaaggtacttgttggctAggagctgagcttatcacaac	10	11	11	9	0	1	2	1	2	0	0	1	3	1	3	1	3	4	5	1	3	5	5	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.453A>G	p.=	p.L151L	ENST00000307897	5/19	226	150	76	242	242	0	strelka-varscan-mutect	ZWILCH,synonymous_variant,p.=,ENST00000307897,NM_017975.4;ZWILCH,synonymous_variant,p.=,ENST00000446801,NM_001287823.1,NM_001287821.1;ZWILCH,synonymous_variant,p.=,ENST00000613446,NM_001287822.1;ZWILCH,synonymous_variant,p.=,ENST00000535141,;ZWILCH,synonymous_variant,p.=,ENST00000565627,;ZWILCH,synonymous_variant,p.=,ENST00000564179,;RPL4,intron_variant,,ENST00000568588,;ZWILCH,intron_variant,,ENST00000565960,;RPL4,intron_variant,,ENST00000564517,;ZWILCH,downstream_gene_variant,,ENST00000564309,;ZWILCH,non_coding_transcript_exon_variant,,ENST00000567926,;ZWILCH,non_coding_transcript_exon_variant,,ENST00000563698,;ZWILCH,upstream_gene_variant,,ENST00000561583,;ZWILCH,upstream_gene_variant,,ENST00000562645,;	G	ENST00000307897	Transcript	synonymous_variant	833/3960	453/1776	151/591	L	ctA/ctG		1		1	ZWILCH	HGNC	HGNC:25468	protein_coding	YES	CCDS10219.1	ENSP00000311429	Q9H900		UPI000013EC73	NM_017975.4			5/19		Pfam_domain:PF09817,hmmpanther:PTHR15995																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	7	66519011	66519011	A	G	1	0	0	0	0	0	0	0	1	18851	407	15	5		5	ZWILCH	15	66519011	Silent	SNP	A	C3L-00080_TP	1130541	66519011	35472178	599	2810											
SCAPER	0	.	GRCh38	chr15	76764991	76764991	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttctgaagcttcaatgtTttctcttcgcgtaacttttc	8	19	5	9	2	3	1	1	1	2	0	6	1	3	1	0	0	2	3	0	0	4	8	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.1695A>T	p.Lys565Asn	p.K565N	ENST00000563290	14/32	77	62	15	105	105	0	strelka-mutect	SCAPER,missense_variant,p.Lys565Asn,ENST00000563290,;SCAPER,missense_variant,p.Lys319Asn,ENST00000538941,NM_001145923.1;SCAPER,missense_variant,p.Lys565Asn,ENST00000324767,NM_020843.2;SCAPER,missense_variant,p.Lys571Asn,ENST00000564590,;SCAPER,missense_variant,p.Lys571Asn,ENST00000565970,;SCAPER,downstream_gene_variant,,ENST00000564022,;SCAPER,3_prime_UTR_variant,,ENST00000565507,;SCAPER,non_coding_transcript_exon_variant,,ENST00000303521,;	A	ENST00000563290	Transcript	missense_variant	1791/5028	1695/4203	565/1400	K/N	aaA/aaT		1		-1	SCAPER	HGNC	HGNC:13081	protein_coding	YES	CCDS53962.1	ENSP00000454973	Q9BY12		UPI0000E59CC3		deleterious(0)		14/32		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31434:SF2,hmmpanther:PTHR31434																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	7	76764991	76764991	T	A	1	0	0	0	0	1	0	0	0	14144	1838	64	4		4	SCAPER	15	76764991	Missense_Mutation	SNP	T	C3L-00080_TP	10245980	76764991	25226198	600	2811											
TMC3	0	.	GRCh38	chr15	81333177	81333177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaggttctgagtgtacatCttcgatgtgcgttgtaaatg	10	14	12	5	2	2	2	0	1	2	1	3	3	2	2	0	1	2	4	0	1	4	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2545G>A	p.Asp849Asn	p.D849N	ENST00000359440	22/22	201	172	29	158	158	0	strelka-mutect	TMC3,missense_variant,p.Asp850Asn,ENST00000558726,;TMC3,missense_variant,p.Asp849Asn,ENST00000359440,NM_001080532.1;TMC3-AS1,intron_variant,,ENST00000559781,;TMC3-AS1,intron_variant,,ENST00000560851,;TMC3-AS1,intron_variant,,ENST00000560973,;RP11-761I4.5,upstream_gene_variant,,ENST00000621471,;TMC3,downstream_gene_variant,,ENST00000559982,;	T	ENST00000359440	Transcript	missense_variant	2681/4641	2545/3303	849/1100	D/N	Gat/Aat		1		-1	TMC3	HGNC	HGNC:22995	protein_coding	YES	CCDS45324.1	ENSP00000352413	Q7Z5M5		UPI00006C154A	NM_001080532.1	tolerated_low_confidence(0.19)		22/22																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	81333177	81333177	C	T	1	0	0	0	0	1	0	0	0	16432	913	32	3		3	TMC3	15	81333177	Missense_Mutation	SNP	C	C3L-00080_TP	4568186	81333177	20658012	601	2812											
ANPEP	0	.	GRCh38	chr15	89803502	89803502	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagcatcctgaggactgaGgcgccctggggtgggggtga	7	6	20	8	1	0	4	0	3	0	1	1	6	1	5	2	6	1	1	2	6	0	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1443C>T	p.=	p.A481A	ENST00000300060	9/21	189	168	21	156	155	1	strelka-varscan-mutect	ANPEP,synonymous_variant,p.=,ENST00000300060,NM_001150.2;ANPEP,downstream_gene_variant,,ENST00000559874,;ANPEP,downstream_gene_variant,,ENST00000560137,;ANPEP,upstream_gene_variant,,ENST00000558177,;ANPEP,missense_variant,p.Pro89Leu,ENST00000560030,;ANPEP,downstream_gene_variant,,ENST00000560028,;ANPEP,downstream_gene_variant,,ENST00000559887,;ANPEP,upstream_gene_variant,,ENST00000559761,;	A	ENST00000300060	Transcript	synonymous_variant	1757/3678	1443/2904	481/967	A	gcC/gcT		1		-1	ANPEP	HGNC	HGNC:500	protein_coding	YES	CCDS10356.1	ENSP00000300060	P15144	A0A024RC61	UPI00001AECCF	NM_001150.2			9/21		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF172,Gene3D:1.10.390.10,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	89803502	89803502	G	A	1	0	0	0	0	0	0	0	1	817	1014	35	3		3	ANPEP	15	89803502	Silent	SNP	G	C3L-00080_TP	8470325	89803502	12187687	602	2813											
ADAMTS17	0	.	GRCh38	chr15	99997464	99997464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgccggccgggggcccGggcagtagaggggccgcgta	4	3	20	14	6	0	1	0	0	0	1	0	1	0	1	5	6	1	3	5	6	2	2	rs778303777		C3L-00080_TP	C3L-00080_NB	G	G																c.2717C>A	p.Pro906Gln	p.P906Q	ENST00000268070	19/22	316	243	73	271	271	0	strelka-varscan-mutect	ADAMTS17,missense_variant,p.Pro906Gln,ENST00000268070,NM_139057.2;	T	ENST00000268070	Transcript	missense_variant	2823/6207	2717/3288	906/1095	P/Q	cCg/cAg	rs778303777	1		-1	ADAMTS17	HGNC	HGNC:17109	protein_coding	YES	CCDS10383.1	ENSP00000268070	Q8TE56		UPI00001AE929	NM_139057.2	tolerated(0.66)		19/22		PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF151,hmmpanther:PTHR13723,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		rs778303777	.												T	3	4	7	99997464	99997464	G	T	1	0	0	0	0	1	0	0	0	306	1116	39	1		1	ADAMTS17	15	99997464	Missense_Mutation	SNP	G	C3L-00080_TP	10193962	99997464	1993725	603	2814											
ASB7	0	.	GRCh38	chr15	100629608	100629608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatgtggctgcccactacgGcagggactcatttgtccggc	6	9	12	14	2	1	0	1	0	0	0	2	1	2	1	3	4	2	2	3	4	1	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.383G>A	p.Gly128Asp	p.G128D	ENST00000332783	5/6	299	175	124	300	300	0	strelka-varscan-mutect	ASB7,missense_variant,p.Gly128Asp,ENST00000332783,NM_198243.2;ASB7,missense_variant,p.Gly128Asp,ENST00000343276,NM_024708.3;ASB7,intron_variant,,ENST00000558747,;	A	ENST00000332783	Transcript	missense_variant	1168/4985	383/957	128/318	G/D	gGc/gAc		1		1	ASB7	HGNC	HGNC:17182	protein_coding	YES	CCDS10387.1	ENSP00000328327	Q9H672	A0A024RC94	UPI00001B3F4D	NM_198243.2	deleterious(0)		5/6		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	100629608	100629608	G	A	1	0	0	0	0	1	0	0	0	1170	1203	42	3		3	ASB7	15	100629608	Missense_Mutation	SNP	G	C3L-00080_TP	632144	100629608	1361581	604	2815											
WDR90	0	.	GRCh38	chr16	661628	661628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccgcaccctcgccctgtgGggcacggccacctatgacct	5	6	12	18	3	0	1	0	1	0	0	1	1	0	1	6	4	0	2	6	4	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.3705G>T	p.Trp1235Cys	p.W1235C	ENST00000293879	31/41	76	55	21	40	40	0	strelka-varscan-mutect	WDR90,missense_variant,p.Trp1235Cys,ENST00000549091,;WDR90,missense_variant,p.Trp1235Cys,ENST00000293879,NM_145294.4;WDR90,upstream_gene_variant,,ENST00000547944,;WDR90,upstream_gene_variant,,ENST00000315764,;WDR90,upstream_gene_variant,,ENST00000551100,;WDR90,downstream_gene_variant,,ENST00000550739,;WDR90,upstream_gene_variant,,ENST00000547543,;WDR90,downstream_gene_variant,,ENST00000552648,;WDR90,upstream_gene_variant,,ENST00000548603,;WDR90,downstream_gene_variant,,ENST00000548844,;WDR90,3_prime_UTR_variant,,ENST00000552728,;WDR90,non_coding_transcript_exon_variant,,ENST00000547407,;WDR90,non_coding_transcript_exon_variant,,ENST00000546516,;WDR90,non_coding_transcript_exon_variant,,ENST00000552683,;WDR90,non_coding_transcript_exon_variant,,ENST00000549024,;WDR90,non_coding_transcript_exon_variant,,ENST00000550902,;WDR90,downstream_gene_variant,,ENST00000552943,;WDR90,upstream_gene_variant,,ENST00000553080,;WDR90,upstream_gene_variant,,ENST00000546923,;WDR90,downstream_gene_variant,,ENST00000548859,;WDR90,upstream_gene_variant,,ENST00000548448,;	T	ENST00000293879	Transcript	missense_variant	3705/5488	3705/5247	1235/1748	W/C	tgG/tgT		1		1	WDR90	HGNC	HGNC:26960	protein_coding	YES	CCDS42092.1	ENSP00000293879	Q96KV7		UPI0000D67C48	NM_145294.4	deleterious(0)		31/41		PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF24,hmmpanther:PTHR13720,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998																	MODERATE	1	SNV	5			1										PASS		rs1437679810	.												T	3	4	7	661628	661628	G	T	1	0	0	0	0	1	0	0	0	17893	1241	43	2		2	WDR90	16	661628	Missense_Mutation	SNP	G	C3L-00080_TP		661628	89676717	605	2816											
HAGHL	0	.	GRCh38	chr16	728449	728449	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagcgcggagcgcgcccAccccgcctcccgccggcccc	3	1	12	25	8	0	0	0	0	0	0	1	1	1	1	9	2	2	1	9	2	0	0	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.422A>T	p.His141Leu	p.H141L	ENST00000549114	5/6	250	163	87	193	191	2	strelka-varscan-mutect	HAGHL,missense_variant,p.His141Leu,ENST00000549114,;HAGHL,missense_variant,p.His141Leu,ENST00000564537,;HAGHL,missense_variant,p.His141Leu,ENST00000568141,;HAGHL,intron_variant,,ENST00000341413,;HAGHL,intron_variant,,ENST00000389703,NM_001290137.1,NM_001290139.1,NM_032304.3;HAGHL,intron_variant,,ENST00000561546,;HAGHL,intron_variant,,ENST00000567414,;HAGHL,intron_variant,,ENST00000564545,;HAGHL,intron_variant,,ENST00000562141,;NARFL,downstream_gene_variant,,ENST00000540986,NM_001304799.1;NARFL,downstream_gene_variant,,ENST00000568545,;NARFL,downstream_gene_variant,,ENST00000251588,NM_022493.2;CCDC78,upstream_gene_variant,,ENST00000293889,NM_001031737.2;CCDC78,upstream_gene_variant,,ENST00000345165,;NARFL,downstream_gene_variant,,ENST00000562421,;CCDC78,upstream_gene_variant,,ENST00000423653,;HAGHL,downstream_gene_variant,,ENST00000563792,;HAGHL,downstream_gene_variant,,ENST00000562187,;HAGHL,upstream_gene_variant,,ENST00000569604,;NARFL,downstream_gene_variant,,ENST00000562862,;HAGHL,upstream_gene_variant,,ENST00000563156,;HAGHL,missense_variant,p.His33Leu,ENST00000561561,;HAGHL,non_coding_transcript_exon_variant,,ENST00000567696,;HAGHL,non_coding_transcript_exon_variant,,ENST00000561750,;HAGHL,intron_variant,,ENST00000389701,;CCDC78,upstream_gene_variant,,ENST00000482878,;CCDC78,upstream_gene_variant,,ENST00000481804,;CCDC78,upstream_gene_variant,,ENST00000478979,;NARFL,downstream_gene_variant,,ENST00000563051,;NARFL,downstream_gene_variant,,ENST00000566650,;NARFL,downstream_gene_variant,,ENST00000565425,;CCDC78,upstream_gene_variant,,ENST00000466708,;CCDC78,upstream_gene_variant,,ENST00000463539,;CCDC78,upstream_gene_variant,,ENST00000485091,;NARFL,downstream_gene_variant,,ENST00000564285,;CCDC78,upstream_gene_variant,,ENST00000538176,;CCDC78,upstream_gene_variant,,ENST00000439619,;CCDC78,upstream_gene_variant,,ENST00000482152,;CCDC78,upstream_gene_variant,,ENST00000460023,;CCDC78,upstream_gene_variant,,ENST00000471861,;HAGHL,downstream_gene_variant,,ENST00000569143,;CCDC78,upstream_gene_variant,,ENST00000544996,;CCDC78,upstream_gene_variant,,ENST00000474647,;HAGHL,upstream_gene_variant,,ENST00000569385,;	T	ENST00000549114	Transcript	missense_variant	725/1820	422/609	141/202	H/L	cAc/cTc		1		1	HAGHL	HGNC	HGNC:14177	protein_coding			ENSP00000447170	Q6PII5		UPI000006EE13		tolerated_low_confidence(0.08)		5/6		SMART_domains:SM00849																	MODERATE		SNV	5			1										PASS		rs1355919837	.												T	3	4	7	728449	728449	A	T	1	0	0	0	0	1	0	0	0	6832	159	6	4		4	HAGHL	16	728449	Missense_Mutation	SNP	A	C3L-00080_TP	66821	728449	89609896	606	2817											
MEFV	0	.	GRCh38	chr16	3243279	3243279	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtatagatgtgggatctGgctgtcacattgtaaaagga	13	12	12	4	0	2	1	1	0	1	1	2	3	2	3	0	3	0	3	0	3	5	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2208C>A	p.=	p.A736A	ENST00000219596	10/10	428	294	134	361	361	0	strelka-varscan-mutect	MEFV,synonymous_variant,p.=,ENST00000219596,NM_000243.2;MEFV,synonymous_variant,p.=,ENST00000339854,;MEFV,synonymous_variant,p.=,ENST00000536379,;MEFV,3_prime_UTR_variant,,ENST00000541159,NM_001198536.1;MEFV,3_prime_UTR_variant,,ENST00000542898,;MEFV,3_prime_UTR_variant,,ENST00000537682,;MEFV,3_prime_UTR_variant,,ENST00000538326,;MEFV,3_prime_UTR_variant,,ENST00000536980,;MEFV,3_prime_UTR_variant,,ENST00000570511,;MEFV,3_prime_UTR_variant,,ENST00000539145,;MEFV,3_prime_UTR_variant,,ENST00000576315,;MEFV,3_prime_UTR_variant,,ENST00000574583,;MEFV,3_prime_UTR_variant,,ENST00000572244,;MEFV,downstream_gene_variant,,ENST00000539154,;	T	ENST00000219596	Transcript	synonymous_variant	2248/3499	2208/2346	736/781	A	gcC/gcA		1		-1	MEFV	HGNC	HGNC:6998	protein_coding	YES	CCDS10498.1	ENSP00000219596	O15553		UPI000004C0CA	NM_000243.2			10/10		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	3243279	3243279	G	T	1	0	0	0	0	0	0	0	1	9399	1335	47	2		2	MEFV	16	3243279	Silent	SNP	G	C3L-00080_TP	2514830	3243279	87095066	607	2818											
RP11-166B2.1	0	.	GRCh38	chr16	11937593	11937593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttataacttctcggaaatgCaataatgatacgtaaccaag	16	12	6	7	2	1	1	0	1	1	0	2	2	1	2	1	1	4	2	1	1	8	7	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.139G>A	p.Ala47Thr	p.A47T	ENST00000399147	2/8	283	243	40	234	233	1	strelka-varscan-mutect	RP11-166B2.1,missense_variant,p.Ala51Thr,ENST00000620285,;RP11-166B2.1,missense_variant,p.Ala47Thr,ENST00000399147,;RP11-166B2.1,missense_variant,p.Ala47Thr,ENST00000547494,;RP11-166B2.1,5_prime_UTR_variant,,ENST00000538896,;RP11-166B2.1,non_coding_transcript_exon_variant,,ENST00000532936,;	T	ENST00000399147	Transcript	missense_variant	139/1194	139/1194	47/397	A/T	Gca/Aca		1		-1	RP11-166B2.1	Clone_based_vega_gene		protein_coding	YES		ENSP00000382101	A6NJ64	A0A0A6YYH2	UPI000204A8FF		tolerated_low_confidence(0.06)		2/8		hmmpanther:PTHR15438,Pfam_domain:PF06409																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	7	11937593	11937593	C	T	1	0	0	0	0	1	0	0	0	13716	710	25	3		3	RP11-166B2.1	16	11937593	Missense_Mutation	SNP	C	C3L-00080_TP	8694314	11937593	78400752	608	2819											
TNFRSF17	0	.	GRCh38	chr16	11965452	11965452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtcagcgttattgtaatgCaagtaagtaatattgcttga	13	15	9	4	1	1	1	1	1	0	0	1	1	1	1	0	0	3	6	0	0	6	8	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.128C>A	p.Ala43Glu	p.A43E	ENST00000053243	1/3	105	91	14	107	107	0	strelka-varscan-mutect	TNFRSF17,missense_variant,p.Ala43Glu,ENST00000053243,NM_001192.2;TNFRSF17,missense_variant,p.Ala43Glu,ENST00000396495,;TNFRSF17,missense_variant,p.Ala35Glu,ENST00000562385,;RP11-166B2.1,intron_variant,,ENST00000538896,;RP11-166B2.1,intron_variant,,ENST00000532936,;UBL5P4,downstream_gene_variant,,ENST00000562584,;	A	ENST00000053243	Transcript	missense_variant,splice_region_variant	346/994	128/555	43/184	A/E	gCa/gAa		1		1	TNFRSF17	HGNC	HGNC:11913	protein_coding	YES	CCDS10552.1	ENSP00000053243	Q02223		UPI000013C562	NM_001192.2	tolerated(0.39)		1/3		hmmpanther:PTHR20437,hmmpanther:PTHR20437:SF0,Pfam_domain:PF09257,PIRSF_domain:PIRSF011859,Superfamily_domains:SSF57586																	MODERATE	1	SNV	1			1										PASS		rs771330300	.												A	3	1	7	11965452	11965452	C	A	1	0	0	0	0	1	0	0	0	16764	724	25	2		2	TNFRSF17	16	11965452	Missense_Mutation	SNP	C	C3L-00080_TP	27859	11965452	78372893	609	2820											
PARN	0	.	GRCh38	chr16	14482759	14482759	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgatctgcttctcttcctGttttctccccatatattcag	5	20	4	12	0	4	1	1	1	3	0	7	1	5	1	3	0	1	2	3	0	2	8	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1549C>G	p.Gln517Glu	p.Q517E	ENST00000437198	22/24	86	61	25	94	94	0	strelka-varscan-mutect	PARN,missense_variant,p.Gln517Glu,ENST00000437198,NM_002582.3;PARN,missense_variant,p.Gln471Glu,ENST00000420015,NM_001242992.1;PARN,missense_variant,p.Gln456Glu,ENST00000341484,NM_001134477.2;PARN,missense_variant,p.Gln342Glu,ENST00000539279,;PARN,non_coding_transcript_exon_variant,,ENST00000564904,;PARN,non_coding_transcript_exon_variant,,ENST00000564882,;	C	ENST00000437198	Transcript	missense_variant	1691/3078	1549/1920	517/639	Q/E	Cag/Gag		1		-1	PARN	HGNC	HGNC:8609	protein_coding	YES	CCDS45419.1	ENSP00000387911	O95453		UPI0000031F7A	NM_002582.3	tolerated(0.18)		22/24		Gene3D:3.30.70.330,hmmpanther:PTHR15092,hmmpanther:PTHR15092:SF26,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	14482759	14482759	G	C	1	0	0	0	0	1	0	0	0	11533	1386	48	4		4	PARN	16	14482759	Missense_Mutation	SNP	G	C3L-00080_TP	2517307	14482759	75855586	610	2821											
COQ7	0	.	GRCh38	chr16	19075742	19075742	+	Missense_Mutation	SNP	G	G	T																															ggcggggaccgccttgctcgGgaaggaaggtgccatggcct																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.389G>T	p.Gly130Val	p.G130V	ENST00000321998	4/6	74	65	9	64	64	0	strelka-varscan-mutect	COQ7,missense_variant,p.Gly130Val,ENST00000321998,NM_016138.4;COQ7,missense_variant,p.Gly107Val,ENST00000569127,;COQ7,missense_variant,p.Gly92Val,ENST00000544894,NM_001190983.1;COQ7,missense_variant,p.Gly92Val,ENST00000561858,;COQ7,missense_variant,p.Gly130Val,ENST00000568985,;COQ7,missense_variant,p.Gly92Val,ENST00000566110,;COQ7,upstream_gene_variant,,ENST00000567314,;COQ7,upstream_gene_variant,,ENST00000569259,;COQ7,stop_gained,p.Gly92Ter,ENST00000566049,;COQ7,3_prime_UTR_variant,,ENST00000569312,;COQ7,downstream_gene_variant,,ENST00000564746,;	T	ENST00000321998	Transcript	missense_variant	455/2657	389/654	130/217	G/V	gGg/gTg		1		1	COQ7	HGNC	HGNC:2244	protein_coding	YES	CCDS10574.1	ENSP00000322316	Q99807		UPI000006D56A	NM_016138.4	deleterious(0)		4/6		Gene3D:1.20.1260.10,HAMAP:MF_01658,Pfam_domain:PF03232,hmmpanther:PTHR11237,hmmpanther:PTHR11237:SF4,Low_complexity_(Seg):seg,Superfamily_domains:SSF47240																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	19075742	19075742	G	T	1	0	0	0	0	1	0	0	0	3544	1232	43	2		2	COQ7	16	19075742	Missense_Mutation	SNP	G	C3L-00080_TP	4592983	19075742	71262603	611	2822	64	2									
COQ7	0	.	GRCh38	chr16	19075743	19075743	+	Silent	SNP	G	G	T																															gcggggaccgccttgctcggGaaggaaggtgccatggcctg																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.390G>T	p.=	p.G130G	ENST00000321998	4/6	76	66	10	66	66	0	strelka-varscan-mutect	COQ7,synonymous_variant,p.=,ENST00000321998,NM_016138.4;COQ7,synonymous_variant,p.=,ENST00000569127,;COQ7,synonymous_variant,p.=,ENST00000544894,NM_001190983.1;COQ7,synonymous_variant,p.=,ENST00000561858,;COQ7,synonymous_variant,p.=,ENST00000568985,;COQ7,synonymous_variant,p.=,ENST00000566110,;COQ7,upstream_gene_variant,,ENST00000567314,;COQ7,upstream_gene_variant,,ENST00000569259,;COQ7,missense_variant,p.Gly92Val,ENST00000566049,;COQ7,3_prime_UTR_variant,,ENST00000569312,;COQ7,downstream_gene_variant,,ENST00000564746,;	T	ENST00000321998	Transcript	synonymous_variant	456/2657	390/654	130/217	G	ggG/ggT		1		1	COQ7	HGNC	HGNC:2244	protein_coding	YES	CCDS10574.1	ENSP00000322316	Q99807		UPI000006D56A	NM_016138.4			4/6		Gene3D:1.20.1260.10,HAMAP:MF_01658,Pfam_domain:PF03232,hmmpanther:PTHR11237,hmmpanther:PTHR11237:SF4,Low_complexity_(Seg):seg,Superfamily_domains:SSF47240																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	19075743	19075743	G	T	1	0	0	0	0	0	0	0	1	3544	1161	41	2		2	COQ7	16	19075743	Silent	SNP	G	C3L-00080_TP	1	19075743	71262602	612	2823	64	2									
GP2	0	.	GRCh38	chr16	20317336	20317336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttccgaggactgcccattCtcctccacgtggatggtgga	6	11	11	13	2	1	0	0	0	1	0	4	4	3	3	4	4	1	0	4	4	0	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1302G>C	p.Glu434Asp	p.E434D	ENST00000381362	9/12	215	179	36	152	152	0	strelka-varscan-mutect	GP2,missense_variant,p.Glu431Asp,ENST00000302555,NM_001502.3;GP2,missense_variant,p.Glu434Asp,ENST00000381362,NM_001007240.2;GP2,missense_variant,p.Glu287Asp,ENST00000381360,NM_001007241.2;GP2,missense_variant,p.Glu284Asp,ENST00000341642,NM_001007242.2;GP2,downstream_gene_variant,,ENST00000572347,;GP2,downstream_gene_variant,,ENST00000575582,;GP2,downstream_gene_variant,,ENST00000572478,;GP2,downstream_gene_variant,,ENST00000573897,;GP2,downstream_gene_variant,,ENST00000574982,;	G	ENST00000381362	Transcript	missense_variant	1379/2425	1302/1614	434/537	E/D	gaG/gaC		1		-1	GP2	HGNC	HGNC:4441	protein_coding	YES	CCDS42128.1	ENSP00000370767	P55259		UPI000059D333	NM_001007240.2	deleterious(0.01)		9/12		PROSITE_profiles:PS51034,hmmpanther:PTHR24044:SF284,hmmpanther:PTHR24044,Pfam_domain:PF00100,SMART_domains:SM00241																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	20317336	20317336	C	G	1	0	0	0	0	1	0	0	0	6477	912	32	4		4	GP2	16	20317336	Missense_Mutation	SNP	C	C3L-00080_TP	1241593	20317336	70021009	613	2824											
ACSM1	0	.	GRCh38	chr16	20691125	20691125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgcagctgtgaaggggcagGgtggatgttgtggaaggatt	8	9	20	4	1	0	1	0	1	0	0	0	4	0	4	0	6	1	4	0	6	2	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.64C>T	p.Pro22Ser	p.P22S	ENST00000307493	1/13	152	95	57	149	149	0	strelka-varscan-mutect	ACSM1,missense_variant,p.Pro22Ser,ENST00000307493,NM_001318890.1,NM_052956.2;ACSM1,missense_variant,p.Pro22Ser,ENST00000520010,;ACSM1,missense_variant,p.Pro22Ser,ENST00000523065,;ACSM3,intron_variant,,ENST00000561584,;ACSM3,intron_variant,,ENST00000568235,;ACSM3,intron_variant,,ENST00000501740,;ACSM1,missense_variant,p.Pro22Ser,ENST00000519745,;	A	ENST00000307493	Transcript	missense_variant	132/2051	64/1734	22/577	P/S	Cct/Tct		1		-1	ACSM1	HGNC	HGNC:18049	protein_coding	YES	CCDS10587.1	ENSP00000301956	Q08AH1		UPI00000558D0	NM_001318890.1,NM_052956.2	tolerated(0.55)		1/13																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	20691125	20691125	G	A	1	0	0	0	0	1	0	0	0	224	1232	43	3		3	ACSM1	16	20691125	Missense_Mutation	SNP	G	C3L-00080_TP	373789	20691125	69647220	614	2825											
DNAH3	0	.	GRCh38	chr16	21111746	21111746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggcagaacatggctaaaGgcacggtgatgttcatggat	13	8	13	7	1	1	2	1	1	0	1	1	3	1	3	0	5	1	4	0	5	4	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1979C>A	p.Pro660His	p.P660H	ENST00000261383	14/62	191	136	55	209	208	1	strelka-varscan-mutect	DNAH3,missense_variant,p.Pro660His,ENST00000261383,NM_017539.2;DNAH3,non_coding_transcript_exon_variant,,ENST00000396036,;	T	ENST00000261383	Transcript	missense_variant	1979/12394	1979/12351	660/4116	P/H	cCt/cAt		1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2	tolerated(0.65)		14/62		hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	21111746	21111746	G	T	1	0	0	0	0	1	0	0	0	4418	1000	35	2		2	DNAH3	16	21111746	Missense_Mutation	SNP	G	C3L-00080_TP	420621	21111746	69226599	615	2826											
OTOA	0	.	GRCh38	chr16	21687584	21687584	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagggggtcctcagggagcTttctccagccagacatcaca	9	8	12	12	0	3	2	2	1	1	1	5	3	4	3	3	3	2	1	3	3	0	1	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.571T>G	p.Phe191Val	p.F191V	ENST00000388958	7/28	277	216	61	257	257	0	strelka-varscan-mutect	OTOA,missense_variant,p.Phe191Val,ENST00000388958,NM_144672.3;OTOA,missense_variant,p.Phe191Val,ENST00000286149,;OTOA,missense_variant,p.Phe112Val,ENST00000388956,NM_001161683.1;	G	ENST00000388958	Transcript	missense_variant	572/3610	571/3420	191/1139	F/V	Ttt/Gtt		1		1	OTOA	HGNC	HGNC:16378	protein_coding	YES	CCDS10600.2	ENSP00000373610	Q7RTW8		UPI00005C8607	NM_144672.3	deleterious(0.01)		7/28		hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	21687584	21687584	T	G	1	0	0	0	0	1	0	0	0	11368	1609	56	5		5	OTOA	16	21687584	Missense_Mutation	SNP	T	C3L-00080_TP	575838	21687584	68650761	616	2827											
NPIPB5	0	.	GRCh38	chr16	22534014	22534014	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatctcaagacacctcccgAgtgtctgctcactccccttc	8	11	5	17	1	3	1	2	0	2	1	7	2	5	1	4	0	1	1	4	0	2	2	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.1031A>T	p.Glu344Val	p.E344V	ENST00000424340	7/7	438	333	105	330	330	0	strelka-varscan-mutect	NPIPB5,missense_variant,p.Glu344Val,ENST00000424340,NM_001135865.1;NPIPB5,missense_variant,p.Glu344Val,ENST00000451409,;NPIPB5,missense_variant,p.Glu344Val,ENST00000517539,;NPIPB5,missense_variant,p.Glu344Val,ENST00000415833,;NPIPB5,missense_variant,p.Glu344Val,ENST00000528249,;NPIPB5,missense_variant,p.Glu128Val,ENST00000357370,;NPIPB5,downstream_gene_variant,,ENST00000621622,;NPIPB5,non_coding_transcript_exon_variant,,ENST00000415654,;NPIPB5,3_prime_UTR_variant,,ENST00000521555,;NPIPB5,downstream_gene_variant,,ENST00000541664,;NPIPB5,downstream_gene_variant,,ENST00000442450,;NPIPB5,downstream_gene_variant,,ENST00000539604,;NPIPB5,downstream_gene_variant,,ENST00000543997,;RP11-368J21.4,downstream_gene_variant,,ENST00000610646,;	T	ENST00000424340	Transcript	missense_variant	1310/3801	1031/3402	344/1133	E/V	gAg/gTg		1		1	NPIPB5	HGNC	HGNC:37233	protein_coding	YES	CCDS45443.1	ENSP00000440703	A8MRT5		UPI000181EF82	NM_001135865.1	deleterious_low_confidence(0)		7/7		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	22534014	22534014	A	T	1	0	0	0	0	1	0	0	0	10639	304	11	4		4	NPIPB5	16	22534014	Missense_Mutation	SNP	A	C3L-00080_TP	846430	22534014	67804331	617	2828											
NPIPB5	0	.	GRCh38	chr16	22534096	22534096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctcaagacacgtgccgaGtgtctgctccatccccttcc	8	10	7	16	2	2	1	1	0	2	1	6	2	5	1	5	0	2	1	5	0	2	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1113G>T	p.Glu371Asp	p.E371D	ENST00000424340	7/7	95	72	23	75	75	0	strelka-varscan-mutect	NPIPB5,missense_variant,p.Glu371Asp,ENST00000424340,NM_001135865.1;NPIPB5,missense_variant,p.Glu371Asp,ENST00000451409,;NPIPB5,missense_variant,p.Glu371Asp,ENST00000517539,;NPIPB5,missense_variant,p.Glu371Asp,ENST00000415833,;NPIPB5,missense_variant,p.Glu371Asp,ENST00000528249,;NPIPB5,missense_variant,p.Glu155Asp,ENST00000357370,;NPIPB5,downstream_gene_variant,,ENST00000621622,;NPIPB5,non_coding_transcript_exon_variant,,ENST00000415654,;NPIPB5,3_prime_UTR_variant,,ENST00000521555,;NPIPB5,downstream_gene_variant,,ENST00000541664,;NPIPB5,downstream_gene_variant,,ENST00000442450,;NPIPB5,downstream_gene_variant,,ENST00000539604,;NPIPB5,downstream_gene_variant,,ENST00000543997,;RP11-368J21.4,downstream_gene_variant,,ENST00000610646,;	T	ENST00000424340	Transcript	missense_variant	1392/3801	1113/3402	371/1133	E/D	gaG/gaT		1		1	NPIPB5	HGNC	HGNC:37233	protein_coding	YES	CCDS45443.1	ENSP00000440703	A8MRT5		UPI000181EF82	NM_001135865.1	deleterious_low_confidence(0.04)		7/7		hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	22534096	22534096	G	T	1	0	0	0	0	1	0	0	0	10639	1020	36	2		2	NPIPB5	16	22534096	Missense_Mutation	SNP	G	C3L-00080_TP	82	22534096	67804249	618	2829											
ERN2	0	.	GRCh38	chr16	23702697	23702697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccttccccacatacagcGtcattctagtgggagagaag	11	9	9	12	1	2	1	1	0	1	1	4	3	4	2	3	1	2	0	3	1	3	4	rs148979151		C3L-00080_TP	C3L-00080_NB	G	G																c.1004C>A	p.Thr335Lys	p.T335K	ENST00000634482	9/22	207	163	44	188	188	0	strelka-varscan-mutect	ERN2,missense_variant,p.Thr335Lys,ENST00000634482,NM_033266.3;ERN2,missense_variant,p.Thr287Lys,ENST00000256797,;ERN2,missense_variant,p.Thr287Lys,ENST00000457008,NM_001308220.1;ERN2,3_prime_UTR_variant,,ENST00000562562,;ERN2,downstream_gene_variant,,ENST00000561478,;ERN2,downstream_gene_variant,,ENST00000566565,;	T	ENST00000634482	Transcript	missense_variant	1173/3616	1004/2925	335/974	T/K	aCg/aAg	rs148979151	1		-1	ERN2	HGNC	HGNC:16942	protein_coding	YES	CCDS32407.1	ENSP00000489461		A0A0U1RRC7	UPI000041A8F8	NM_033266.3	deleterious(0)		9/22		hmmpanther:PTHR13954,hmmpanther:PTHR13954:SF15																	MODERATE	1	SNV	1			1										PASS		rs148979151	.												T	3	4	7	23702697	23702697	G	T	1	0	0	0	0	1	0	0	0	5096	1159	40	1		1	ERN2	16	23702697	Missense_Mutation	SNP	G	C3L-00080_TP	1168601	23702697	66635648	619	2830											
SEPHS2	0	.	GRCh38	chr16	30445458	30445458	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcctcttcctggccaccCaccaggccccggcccagcgg	5	4	11	21	3	1	0	0	0	1	0	2	1	2	0	8	4	1	0	8	4	0	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.270G>T	p.=	p.V90V	ENST00000478753	1/1	268	180	88	193	193	0	strelka-varscan-mutect	SEPHS2,synonymous_variant,p.=,ENST00000478753,NM_012248.3;	A	ENST00000478753	Transcript	synonymous_variant	724/2551	270/1347	90/448	V	gtG/gtT		1		-1	SEPHS2	HGNC	HGNC:19686	protein_coding	YES		ENSP00000418669	Q99611	J3KR58	UPI00001678A0	NM_012248.3			1/1																			LOW	1	SNV				1										PASS		.	.												A	2	1	7	30445458	30445458	C	A	1	0	0	0	0	0	0	0	1	14331	581	21	2		2	SEPHS2	16	30445458	Silent	SNP	C	C3L-00080_TP	6742761	30445458	59892887	620	2831											
ITGAM	0	.	GRCh38	chr16	31329906	31329906	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccaggtcaccttctccgagGtgagcggagctcggcctgac	6	7	13	15	3	2	2	1	2	1	0	4	4	2	3	4	4	2	1	4	4	0	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2979+1G>A		p.X993_splice	ENST00000544665		177	143	34	125	125	0	strelka-varscan-mutect	ITGAM,splice_donor_variant,,ENST00000544665,NM_001145808.1;ITGAM,splice_donor_variant,,ENST00000287497,NM_000632.3;ITGAM,upstream_gene_variant,,ENST00000565142,;ITGAM,non_coding_transcript_exon_variant,,ENST00000569746,;ITGAM,downstream_gene_variant,,ENST00000561838,;ITGAM,downstream_gene_variant,,ENST00000567178,;	A	ENST00000544665	Transcript	splice_donor_variant	-/4718	2979/3462	993/1153				1		1	ITGAM	HGNC	HGNC:6149	protein_coding	YES	CCDS54004.1	ENSP00000441691	P11215		UPI000004B26A	NM_001145808.1				25/29																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	7	31329906	31329906	G	A	1	0	0	0	0	0	0	1	0	7794	1275	44	3		3	ITGAM	16	31329906	Splice_Site	SNP	G	C3L-00080_TP	884448	31329906	59008439	621	2832											
ITGAX	0	.	GRCh38	chr16	31371728	31371728	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaaccggagtctgagcCgagtccgagtcctcgggctg	9	6	14	12	4	1	2	0	1	1	1	4	5	3	3	4	2	2	1	4	2	2	0	rs775006242		C3L-00080_TP	C3L-00080_NB	C	C																c.2104C>G	p.Arg702Gly	p.R702G	ENST00000562522	17/31	287	235	52	235	235	0	strelka-varscan-mutect	ITGAX,missense_variant,p.Arg702Gly,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Arg702Gly,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,non_coding_transcript_exon_variant,,ENST00000562138,;	G	ENST00000562522	Transcript	missense_variant	2137/3990	2104/3510	702/1169	R/G	Cga/Gga	rs775006242	1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	tolerated(0.05)		17/31		Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		rs775006242	.												G	3	3	7	31371728	31371728	C	G	1	0	0	0	0	1	0	0	0	7796	644	23	4		4	ITGAX	16	31371728	Missense_Mutation	SNP	C	C3L-00080_TP	41822	31371728	58966617	622	2833											
ITGAX	0	.	GRCh38	chr16	31371743	31371743	+	Missense_Mutation	SNP	G	G	T																															tgagccgagtccgagtcctcGggctgaaggcacactgtgaa																								rs368436373		C3L-00080_TP	C3L-00080_NB	G	G																c.2119G>T	p.Gly707Trp	p.G707W	ENST00000562522	17/31	249	212	37	217	217	0	strelka-varscan-mutect	ITGAX,missense_variant,p.Gly707Trp,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Gly707Trp,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,non_coding_transcript_exon_variant,,ENST00000562138,;	T	ENST00000562522	Transcript	missense_variant	2152/3990	2119/3510	707/1169	G/W	Ggg/Tgg	rs368436373,COSM3988449,COSM5303033	1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	deleterious(0.01)		17/31		Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,Superfamily_domains:SSF69179											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs368436373	.												T	3	4	7	31371743	31371743	G	T	1	0	0	0	0	1	0	0	0	7796	1116	39	1		1	ITGAX	16	31371743	Missense_Mutation	SNP	G	C3L-00080_TP	15	31371743	58966602	623	2834	65	2									
ITGAX	0	.	GRCh38	chr16	31371744	31371744	+	Missense_Mutation	SNP	G	G	T																															gagccgagtccgagtcctcgGgctgaaggcacactgtgaaa																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2120G>T	p.Gly707Val	p.G707V	ENST00000562522	17/31	241	207	34	207	207	0	strelka-varscan-mutect	ITGAX,missense_variant,p.Gly707Val,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Gly707Val,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,non_coding_transcript_exon_variant,,ENST00000562138,;	T	ENST00000562522	Transcript	missense_variant	2153/3990	2120/3510	707/1169	G/V	gGg/gTg		1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	deleterious(0)		17/31		Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	31371744	31371744	G	T	1	0	0	0	0	1	0	0	0	7796	1232	43	2		2	ITGAX	16	31371744	Missense_Mutation	SNP	G	C3L-00080_TP	1	31371744	58966601	624	2835	65	2									
ITGAD	0	.	GRCh38	chr16	31411096	31411096	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggctcctacttcggggcCtccctctgctctgtggatgt	3	13	11	14	2	2	0	0	0	2	0	6	1	4	1	3	4	2	2	3	4	1	2	rs780689628		C3L-00080_TP	C3L-00080_NB	C	C																c.1377C>A	p.=	p.A459A	ENST00000389202	13/30	226	204	22	136	136	0	strelka-varscan-mutect	ITGAD,synonymous_variant,p.=,ENST00000389202,NM_001318185.1,NM_005353.2;ITGAD,downstream_gene_variant,,ENST00000444228,;	A	ENST00000389202	Transcript	synonymous_variant	1426/3912	1377/3486	459/1161	A	gcC/gcA	rs780689628	1		1	ITGAD	HGNC	HGNC:6146	protein_coding	YES	CCDS32438.1	ENSP00000373854	Q13349		UPI000004B27A	NM_001318185.1,NM_005353.2			13/30		Gene3D:3nigC00,Pfam_domain:PF01839,Prints_domain:PR01185,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,SMART_domains:SM00191,Superfamily_domains:SSF69318																	LOW	1	SNV	1			1										PASS		rs780689628	.												A	2	1	7	31411096	31411096	C	A	1	0	0	0	0	0	0	0	1	7791	668	24	2		2	ITGAD	16	31411096	Silent	SNP	C	C3L-00080_TP	39352	31411096	58927249	625	2836											
SHCBP1	0	.	GRCh38	chr16	46604126	46604126	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggatgttagaattcttcTgataaccaaacacatacctt	13	14	5	9	0	2	2	0	1	2	1	2	3	2	3	2	1	3	1	2	1	5	7	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.941A>C	p.Gln314Pro	p.Q314P	ENST00000303383	7/13	147	100	47	123	123	0	strelka-mutect	SHCBP1,missense_variant,p.Gln314Pro,ENST00000303383,NM_024745.4;SHCBP1,missense_variant,p.Gln54Pro,ENST00000569702,;SHCBP1,non_coding_transcript_exon_variant,,ENST00000566016,;SHCBP1,non_coding_transcript_exon_variant,,ENST00000565887,;SHCBP1,upstream_gene_variant,,ENST00000563219,;	G	ENST00000303383	Transcript	missense_variant	1208/3461	941/2019	314/672	Q/P	cAg/cCg		1		-1	SHCBP1	HGNC	HGNC:29547	protein_coding	YES	CCDS10720.1	ENSP00000306473	Q8NEM2		UPI000013E898	NM_024745.4	tolerated(0.12)		7/13		hmmpanther:PTHR14695:SF8,hmmpanther:PTHR14695																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	46604126	46604126	T	G	1	0	0	0	0	1	0	0	0	14533	1580	55	5		5	SHCBP1	16	46604126	Missense_Mutation	SNP	T	C3L-00080_TP	15193030	46604126	43734219	626	2837											
MYLK3	0	.	GRCh38	chr16	46747966	46747966	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaaccccatcagccccGcccgggcccggtgcccggga	5	3	15	18	4	1	0	1	0	0	0	1	2	1	2	7	5	3	0	7	5	1	0	rs368349751		C3L-00080_TP	C3L-00080_NB	G	G																c.228C>A	p.=	p.G76G	ENST00000394809	1/13	320	229	91	242	240	2	strelka-varscan-mutect	MYLK3,synonymous_variant,p.=,ENST00000394809,NM_182493.2;MYLK3,intron_variant,,ENST00000536476,NM_001308301.1;MYLK3,intron_variant,,ENST00000569810,;	T	ENST00000394809	Transcript	synonymous_variant	344/6911	228/2460	76/819	G	ggC/ggA	rs368349751	1		-1	MYLK3	HGNC	HGNC:29826	protein_coding	YES	CCDS10723.2	ENSP00000378288	Q32MK0		UPI000059D380	NM_182493.2			1/13																			LOW	1	SNV	1			1										PASS		rs368349751	.												T	2	4	7	46747966	46747966	G	T	1	0	0	0	0	0	0	0	1	10058	1074	38	1		1	MYLK3	16	46747966	Silent	SNP	G	C3L-00080_TP	143840	46747966	43590379	627	2838											
ABCC11	0	.	GRCh38	chr16	48198179	48198179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttctggataagttgggCatatttcccctttttctgca	7	17	7	10	0	3	0	0	0	3	0	4	1	4	1	2	2	1	3	2	2	2	7	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2179G>T	p.Ala727Ser	p.A727S	ENST00000394747	15/29	243	179	64	247	247	0	strelka-varscan-mutect	ABCC11,missense_variant,p.Ala727Ser,ENST00000394747,NM_033151.3;ABCC11,missense_variant,p.Ala727Ser,ENST00000356608,;ABCC11,missense_variant,p.Ala727Ser,ENST00000394748,NM_032583.3;ABCC11,missense_variant,p.Ala727Ser,ENST00000353782,NM_145186.2;ABCC11,non_coding_transcript_exon_variant,,ENST00000569172,;	A	ENST00000394747	Transcript	missense_variant	2529/4862	2179/4149	727/1382	A/S	Gcc/Tcc		1		-1	ABCC11	HGNC	HGNC:14639	protein_coding	YES	CCDS10732.1	ENSP00000378230	Q96J66	A0A024R6Q6	UPI0000052711	NM_033151.3	deleterious(0.03)		15/29		PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF168,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	48198179	48198179	C	A	1	0	0	0	0	1	0	0	0	55	710	25	2		2	ABCC11	16	48198179	Missense_Mutation	SNP	C	C3L-00080_TP	1450213	48198179	42140166	628	2839											
NKD1	0	.	GRCh38	chr16	50633385	50633385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacggctccggggcacccaGgacgggagcaagcactttgt	9	5	14	13	3	0	0	0	0	0	0	1	2	1	2	2	5	3	4	2	5	2	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1017G>T	p.Gln339His	p.Q339H	ENST00000268459	10/10	186	134	52	120	120	0	strelka-varscan-mutect	NKD1,missense_variant,p.Gln339His,ENST00000268459,NM_033119.4;NKD1,downstream_gene_variant,,ENST00000566396,;	T	ENST00000268459	Transcript	missense_variant	1241/17105	1017/1413	339/470	Q/H	caG/caT		1		1	NKD1	HGNC	HGNC:17045	protein_coding	YES	CCDS10743.1	ENSP00000268459	Q969G9		UPI0000073F02	NM_033119.4	deleterious(0)		10/10		hmmpanther:PTHR22611:SF2,hmmpanther:PTHR22611																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	50633385	50633385	G	T	1	0	0	0	0	1	0	0	0	10476	991	35	2		2	NKD1	16	50633385	Missense_Mutation	SNP	G	C3L-00080_TP	2435206	50633385	39704960	629	2840											
MMP2	0	.	GRCh38	chr16	55488558	55488558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttagccctgttcaccatggGcggcaacgctgaaggacagc	9	7	12	13	2	1	1	1	1	0	0	1	2	1	2	2	3	3	3	2	3	3	2	rs760811855		C3L-00080_TP	C3L-00080_NB	G	G																c.848G>T	p.Gly283Val	p.G283V	ENST00000219070	6/13	256	189	67	268	268	0	strelka-varscan-mutect	MMP2,missense_variant,p.Gly283Val,ENST00000219070,NM_004530.5;MMP2,missense_variant,p.Gly207Val,ENST00000570308,;MMP2,missense_variant,p.Gly233Val,ENST00000437642,NM_001127891.2;MMP2,missense_variant,p.Gly207Val,ENST00000543485,NM_001302508.1,NM_001302510.1,NM_001302509.1;MMP2,upstream_gene_variant,,ENST00000570283,;MMP2,downstream_gene_variant,,ENST00000564864,;MMP2,downstream_gene_variant,,ENST00000568715,;RP11-212I21.3,non_coding_transcript_exon_variant,,ENST00000623886,;	T	ENST00000219070	Transcript	missense_variant	1357/3741	848/1983	283/660	G/V	gGc/gTc	rs760811855	1		1	MMP2	HGNC	HGNC:7166	protein_coding	YES	CCDS10752.1	ENSP00000219070	P08253	A0A024R6R4	UPI00000422C4	NM_004530.5	deleterious(0)		6/13		Gene3D:2.10.10.10,Pfam_domain:PF00413,SMART_domains:SM00235,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		rs760811855	.												T	3	4	7	55488558	55488558	G	T	1	0	0	0	0	1	0	0	0	9621	1203	42	2		2	MMP2	16	55488558	Missense_Mutation	SNP	G	C3L-00080_TP	4855173	55488558	34849787	630	2841											
SF3B3	0	.	GRCh38	chr16	70530846	70530846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaaagcaaacactttaGtgtatcatgtagttggagta	14	11	8	8	0	1	0	1	0	0	0	1	1	1	1	1	1	2	5	1	1	6	6	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.499G>A	p.Val167Met	p.V167M	ENST00000302516	4/26	177	131	46	220	220	0	strelka-varscan-mutect	SF3B3,missense_variant,p.Val167Met,ENST00000302516,NM_012426.4;SF3B3,downstream_gene_variant,,ENST00000564899,;SF3B3,downstream_gene_variant,,ENST00000577085,;SF3B3,downstream_gene_variant,,ENST00000566095,;SF3B3,downstream_gene_variant,,ENST00000567654,;SF3B3,downstream_gene_variant,,ENST00000569687,;SNORD111B,downstream_gene_variant,,ENST00000408587,;	A	ENST00000302516	Transcript	missense_variant	710/9720	499/3654	167/1217	V/M	Gtg/Atg		1		1	SF3B3	HGNC	HGNC:10770	protein_coding	YES	CCDS10894.1	ENSP00000305790	Q15393		UPI0000167878	NM_012426.4	deleterious(0.01)		4/26		hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF1,Pfam_domain:PF10433																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	70530846	70530846	G	A	1	0	0	0	0	1	0	0	0	14430	1029	36	3		3	SF3B3	16	70530846	Missense_Mutation	SNP	G	C3L-00080_TP	15042288	70530846	19807499	631	2842											
GLG1	0	.	GRCh38	chr16	74480394	74480394	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggtacaggacagggtccagCctataaggttaagagttaaa	14	8	12	7	1	0	1	0	0	0	1	1	2	1	2	2	4	2	3	2	4	6	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1674G>T	p.Lys558Asn	p.K558N	ENST00000205061	11/27	91	65	26	123	123	0	strelka-varscan-mutect	GLG1,missense_variant,p.Lys558Asn,ENST00000205061,NM_012201.5;GLG1,missense_variant,p.Lys558Asn,ENST00000422840,NM_001145667.1;GLG1,missense_variant,p.Lys547Asn,ENST00000447066,NM_001145666.1;GLG1,missense_variant,p.Lys558Asn,ENST00000627032,;GLG1,missense_variant,p.Lys558Asn,ENST00000562090,;GLG1,intron_variant,,ENST00000567951,;GLG1,upstream_gene_variant,,ENST00000567911,;	A	ENST00000205061	Transcript	missense_variant,splice_region_variant	1694/8261	1674/3612	558/1203	K/N	aaG/aaT		1		-1	GLG1	HGNC	HGNC:4316	protein_coding	YES	CCDS32485.1	ENSP00000205061	Q92896		UPI00001FFBD9	NM_012201.5	deleterious(0.01)		11/27		PROSITE_profiles:PS51289,hmmpanther:PTHR11884:SF1,hmmpanther:PTHR11884,Pfam_domain:PF00839																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	74480394	74480394	C	A	1	0	0	0	0	1	0	0	0	6314	753	26	2		2	GLG1	16	74480394	Missense_Mutation	SNP	C	C3L-00080_TP	3949548	74480394	15857951	632	2843											
FOXC2	0	.	GRCh38	chr16	86567826	86567826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacggcagcttcctgcggcGccggcggcgcttcaaaaaga	9	5	14	13	6	1	1	1	0	0	1	2	2	2	1	2	4	3	3	2	4	3	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.491G>T	p.Arg164Leu	p.R164L	ENST00000320354	1/1	195	152	43	219	219	0	strelka-varscan-mutect	FOXC2,missense_variant,p.Arg164Leu,ENST00000320354,NM_005251.2;FOXC2-AS1,upstream_gene_variant,,ENST00000563280,;	T	ENST00000320354	Transcript	missense_variant	576/2478	491/1506	164/501	R/L	cGc/cTc		1		1	FOXC2	HGNC	HGNC:3801	protein_coding	YES	CCDS10958.1	ENSP00000326371	Q99958		UPI000012ADC6	NM_005251.2	deleterious(0)		1/1		Low_complexity_(Seg):seg,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF189,Superfamily_domains:SSF46785																	MODERATE		SNV				1										PASS		.	.												T	3	4	7	86567826	86567826	G	T	1	0	0	0	0	1	0	0	0	5855	1087	38	1		1	FOXC2	16	86567826	Missense_Mutation	SNP	G	C3L-00080_TP	12087432	86567826	3770519	633	2844											
ZNF469	0	.	GRCh38	chr16	88433707	88433707	+	Silent	SNP	T	T	A																															gcccacagccgaagtggatcTgagggccggactccagagag																								novel		C3L-00080_TP	C3L-00080_NB	T	T																c.6153T>A	p.=	p.S2051S	ENST00000437464	2/2	118	88	30	114	114	0	strelka-mutect	ZNF469,synonymous_variant,p.=,ENST00000565624,;ZNF469,synonymous_variant,p.=,ENST00000437464,NM_001127464.2;	A	ENST00000437464	Transcript	synonymous_variant	6153/13203	6153/11778	2051/3925	S	tcT/tcA		1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2			2/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	LOW	1	SNV	5			1										PASS		rs1380713788	.												A	2	1	7	88433707	88433707	T	A	1	0	0	0	0	0	0	0	1	18500	1567	55	4		4	ZNF469	16	88433707	Silent	SNP	T	C3L-00080_TP	1865881	88433707	1904638	634	2845	66	2									
ZNF469	0	.	GRCh38	chr16	88433709	88433709	+	Frame_Shift_Del	DEL	A	A	-																															ccacagccgaagtggatctgAgggccggactccagagaggg																								novel		C3L-00080_TP	C3L-00080_NB	A	A																c.6155delA	p.Glu2052GlyfsTer13	p.E2052Gfs*13	ENST00000437464	2/2	106	79	27	112	112	0	sindel-varindel	ZNF469,frameshift_variant,p.Glu2080GlyfsTer13,ENST00000565624,;ZNF469,frameshift_variant,p.Glu2052GlyfsTer13,ENST00000437464,NM_001127464.2;	-	ENST00000437464	Transcript	frameshift_variant	6155/13203	6155/11778	2052/3925	E/X	gAg/gg		1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2			2/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	7	88433709	88433709	A	-	1	0	1	0	1	0	0	0	0	18500	304	11	0		0	ZNF469	16	88433709	Frame_Shift_Del	DEL	A	C3L-00080_TP	2	88433709	1904636	635	2846	66	2									
DPEP1	0	.	GRCh38	chr16	89636557	89636557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcggcaggccttccgggaagGgaaggtggccagcctgatcg	7	6	17	11	3	0	1	0	1	0	0	3	3	1	3	4	6	1	1	4	6	2	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.395G>T	p.Gly132Val	p.G132V	ENST00000393092	5/11	93	69	24	88	88	0	strelka-varscan-mutect	DPEP1,missense_variant,p.Gly132Val,ENST00000393092,NM_004413.3;DPEP1,missense_variant,p.Gly132Val,ENST00000421184,NM_001128141.2;DPEP1,missense_variant,p.Gly132Val,ENST00000261615,;DPEP1,downstream_gene_variant,,ENST00000570029,;DPEP1,downstream_gene_variant,,ENST00000568281,;DPEP1,non_coding_transcript_exon_variant,,ENST00000564281,;DPEP1,non_coding_transcript_exon_variant,,ENST00000565249,;DPEP1,downstream_gene_variant,,ENST00000561484,;DPEP1,upstream_gene_variant,,ENST00000564645,;	T	ENST00000393092	Transcript	missense_variant	686/1734	395/1236	132/411	G/V	gGg/gTg		1		1	DPEP1	HGNC	HGNC:3002	protein_coding	YES	CCDS10982.1	ENSP00000376807	P16444	A0A140VJI3	UPI000006DF95	NM_004413.3	deleterious(0.03)		5/11		PROSITE_profiles:PS51365,hmmpanther:PTHR10443,hmmpanther:PTHR10443:SF17,Gene3D:3.20.20.140,Pfam_domain:PF01244,Superfamily_domains:SSF51556																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	89636557	89636557	G	T	1	0	0	0	0	1	0	0	0	4527	1232	43	2		2	DPEP1	16	89636557	Missense_Mutation	SNP	G	C3L-00080_TP	1202848	89636557	701788	636	2847											
TCF25	0	.	GRCh38	chr16	89893748	89893748	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctgtccatgcggctgctgGaatcaaaaaaaggcctctcc	10	9	10	12	1	3	0	1	0	2	0	5	1	4	1	3	3	2	2	3	3	4	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.718G>T	p.Glu240Ter	p.E240*	ENST00000263346	7/18	238	180	58	217	217	0	strelka-varscan-mutect	TCF25,stop_gained,p.Glu5Ter,ENST00000263347,;TCF25,stop_gained,p.Glu240Ter,ENST00000263346,NM_014972.2;TCF25,stop_gained,p.Glu102Ter,ENST00000562256,;TCF25,stop_gained,p.Glu59Ter,ENST00000568409,;TCF25,stop_gained,p.Glu228Ter,ENST00000561958,;TCF25,intron_variant,,ENST00000568412,;TCF25,downstream_gene_variant,,ENST00000614813,;TCF25,downstream_gene_variant,,ENST00000565196,;TCF25,upstream_gene_variant,,ENST00000562193,;TCF25,intron_variant,,ENST00000566751,;TCF25,non_coding_transcript_exon_variant,,ENST00000568870,;TCF25,upstream_gene_variant,,ENST00000570116,;TCF25,downstream_gene_variant,,ENST00000564652,;TCF25,upstream_gene_variant,,ENST00000563636,;TCF25,upstream_gene_variant,,ENST00000562184,;TCF25,upstream_gene_variant,,ENST00000566158,;	T	ENST00000263346	Transcript	stop_gained	774/2233	718/2031	240/676	E/*	Gaa/Taa		1		1	TCF25	HGNC	HGNC:29181	protein_coding	YES	CCDS10987.1	ENSP00000263346	Q9BQ70		UPI000012A80B	NM_014972.2			7/18		hmmpanther:PTHR22684,hmmpanther:PTHR22684:SF0																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	7	89893748	89893748	G	T	1	0	0	0	0	0	1	0	0	16100	1175	41	2		2	TCF25	16	89893748	Nonsense_Mutation	SNP	G	C3L-00080_TP	257191	89893748	444597	637	2848											
YWHAE	0	.	GRCh38	chr17	1361926	1361934	+	In_Frame_Del	DEL	TCGCCAGTG	TCGCCAGTG	-																															tataatagaaaaccttggacTcgccagtgttagctgctgga																								novel		C3L-00080_TP	C3L-00080_NB	TCGCCAGTG	TCGCCAGTG																c.339_347delCACTGGCGA	p.Asn113_Glu116delinsLys	p.N113_E116delinsK	ENST00000264335	3/6	114	105	9	153	153	0	varindel-pindel	YWHAE,inframe_deletion,p.Asn113_Glu116delinsLys,ENST00000264335,NM_006761.4;YWHAE,inframe_deletion,p.Asn91_Glu94delinsLys,ENST00000571732,;YWHAE,intron_variant,,ENST00000573026,;YWHAE,intron_variant,,ENST00000575977,;YWHAE,upstream_gene_variant,,ENST00000496706,;YWHAE,splice_donor_variant,,ENST00000466227,;YWHAE,non_coding_transcript_exon_variant,,ENST00000486241,;YWHAE,non_coding_transcript_exon_variant,,ENST00000469398,;YWHAE,intron_variant,,ENST00000573196,;YWHAE,downstream_gene_variant,,ENST00000489287,;	-	ENST00000264335	Transcript	inframe_deletion	607-615/2211	339-347/768	113-116/255	NTGE/K	aaCACTGGCGAg/aag		1		-1	YWHAE	HGNC	HGNC:12851	protein_coding	YES	CCDS11001.1	ENSP00000264335	P62258	V9HW98	UPI0000021A46	NM_006761.4			3/6		hmmpanther:PTHR18860,PIRSF_domain:PIRSF000868,Pfam_domain:PF00244,Gene3D:3iquA00,SMART_domains:SM00101,Superfamily_domains:SSF48445,Prints_domain:PR00305																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	7	1361926	1361926	TCGCCAGTG	-	1	0	1	0	1	0	0	0	0	18063	1551	54	0		0	YWHAE	17	1361926	In_Frame_Del	DEL	TCGCCAGTG	C3L-00080_TP		1361926	81895515	638	2849											
SGSM2	0	.	GRCh38	chr17	2377953	2377953	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctggattttaagagaGgtaagaagtgggttggatca	11	12	14	4	0	1	2	1	0	0	2	2	5	2	4	1	4	1	3	1	4	3	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2899G>C	p.Glu967Gln	p.E967Q	ENST00000268989	22/24	172	119	53	121	121	0	strelka-varscan-mutect	SGSM2,missense_variant,p.Glu967Gln,ENST00000268989,NM_014853.2;SGSM2,missense_variant,p.Glu922Gln,ENST00000426855,NM_001098509.1;SGSM2,missense_variant,p.Glu922Gln,ENST00000574563,;SGSM2,missense_variant,p.Glu15Gln,ENST00000573851,;SGSM2,upstream_gene_variant,,ENST00000572925,;RP1-59D14.5,intron_variant,,ENST00000574290,;RP1-59D14.5,upstream_gene_variant,,ENST00000573007,;SGSM2,splice_region_variant,,ENST00000572841,;SGSM2,downstream_gene_variant,,ENST00000574857,;SGSM2,downstream_gene_variant,,ENST00000573717,;SGSM2,downstream_gene_variant,,ENST00000574250,;	C	ENST00000268989	Transcript	missense_variant,splice_region_variant	3076/4863	2899/3156	967/1051	E/Q	Gaa/Caa		1		1	SGSM2	HGNC	HGNC:29026	protein_coding	YES	CCDS32526.1	ENSP00000268989	O43147		UPI0000160300	NM_014853.2	deleterious(0)		22/24		Pfam_domain:PF00566,PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF194,SMART_domains:SM00164,Superfamily_domains:SSF47923																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	2377953	2377953	G	C	1	0	0	0	0	1	0	0	0	14481	1014	35	4		4	SGSM2	17	2377953	Missense_Mutation	SNP	G	C3L-00080_TP	1016027	2377953	80879488	639	2850											
OR3A2	0	.	GRCh38	chr17	3278731	3278731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggttccccaggaagaagtAcatgggggcgtggagtttgg	9	8	17	7	1	0	1	0	0	0	1	1	3	1	3	2	6	1	3	2	6	3	3	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.205T>C	p.Tyr69His	p.Y69H	ENST00000408891	1/1	24	18	6	30	30	0	varscan-mutect	OR3A2,missense_variant,p.Tyr69His,ENST00000408891,NM_002551.3;RP11-64J4.2,downstream_gene_variant,,ENST00000573491,;RP11-64J4.2,downstream_gene_variant,,ENST00000576166,;	G	ENST00000408891	Transcript	missense_variant	244/1076	205/966	69/321	Y/H	Tac/Cac		1		-1	OR3A2	HGNC	HGNC:8283	protein_coding	YES	CCDS42233.1	ENSP00000386180	P47893	A0A126GVQ3	UPI0000050B3C	NM_002551.3	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF449,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												G	3	3	7	3278731	3278731	A	G	1	0	0	0	0	1	0	0	0	11115	391	14	5		5	OR3A2	17	3278731	Missense_Mutation	SNP	A	C3L-00080_TP	900778	3278731	79978710	640	2851											
OR3A1	0	.	GRCh38	chr17	3292384	3292384	+	Missense_Mutation	SNP	C	C	A																															atccagcactgataggttccCcaggaagaagtacatggggg																										C3L-00080_TP	C3L-00080_NB	C	C																c.199G>T	p.Gly67Trp	p.G67W	ENST00000323404	1/1	300	125	175	283	283	0	strelka-varscan-mutect	OR3A1,missense_variant,p.Gly73Trp,ENST00000615105,;OR3A1,missense_variant,p.Gly67Trp,ENST00000323404,NM_002550.2;RP11-64J4.2,intron_variant,,ENST00000573491,;RP11-64J4.2,intron_variant,,ENST00000573901,;RP11-64J4.2,intron_variant,,ENST00000576166,;	A	ENST00000323404	Transcript	missense_variant	199/948	199/948	67/315	G/W	Ggg/Tgg	COSM4709874	1		-1	OR3A1	HGNC	HGNC:8282	protein_coding	YES	CCDS11023.1	ENSP00000313803	P47881	A0A126GVP1	UPI00001410CA	NM_002550.2	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF90,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE		SNV			1	1										PASS		.	.												A	3	1	7	3292384	3292384	C	A	1	0	0	0	0	1	0	0	0	11114	623	22	2		2	OR3A1	17	3292384	Missense_Mutation	SNP	C	C3L-00080_TP	13653	3292384	79965057	641	2852	67	2									
OR3A1	0	.	GRCh38	chr17	3292385	3292385	+	Silent	SNP	C	C	G																															tccagcactgataggttcccCaggaagaagtacatgggggt																										C3L-00080_TP	C3L-00080_NB	C	C																c.198G>C	p.=	p.L66L	ENST00000323404	1/1	303	127	176	282	281	1	strelka-varscan-mutect	OR3A1,synonymous_variant,p.=,ENST00000615105,;OR3A1,synonymous_variant,p.=,ENST00000323404,NM_002550.2;RP11-64J4.2,intron_variant,,ENST00000573491,;RP11-64J4.2,intron_variant,,ENST00000573901,;RP11-64J4.2,intron_variant,,ENST00000576166,;	G	ENST00000323404	Transcript	synonymous_variant	198/948	198/948	66/315	L	ctG/ctC	COSM1520706	1		-1	OR3A1	HGNC	HGNC:8282	protein_coding	YES	CCDS11023.1	ENSP00000313803	P47881	A0A126GVP1	UPI00001410CA	NM_002550.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF90,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						LOW		SNV			1	1										PASS		.	.												G	2	3	7	3292385	3292385	C	G	1	0	0	0	0	0	0	0	1	11114	581	21	4		4	OR3A1	17	3292385	Silent	SNP	C	C3L-00080_TP	1	3292385	79965056	642	2853	67	2									
OR3A3	0	.	GRCh38	chr17	3421203	3421203	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctctttgtagcagcAgccttcatggctgtggcacc	5	12	11	13	0	2	0	1	0	1	0	2	0	2	0	2	2	5	7	2	2	1	3	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.636A>C	p.=	p.A212A	ENST00000291231	1/1	724	651	73	360	360	0	strelka-varscan-mutect	OR3A3,synonymous_variant,p.=,ENST00000291231,NM_012373.2;	C	ENST00000291231	Transcript	synonymous_variant	636/966	636/966	212/321	A	gcA/gcC		1		1	OR3A3	HGNC	HGNC:8284	protein_coding	YES	CCDS11025.1	ENSP00000291231	P47888		UPI000013E033	NM_012373.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF7,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												C	2	2	7	3421203	3421203	A	C	1	0	0	0	0	0	0	0	1	11116	175	7	5		5	OR3A3	17	3421203	Silent	SNP	A	C3L-00080_TP	128818	3421203	79836238	643	2854											
WSCD1	0	.	GRCh38	chr17	6120425	6120425	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagctgcggcgcagcctgGtgcccacgttacgggagatg	7	6	17	11	4	0	1	0	0	0	1	0	3	0	2	2	4	5	3	2	4	1	1	rs748708422		C3L-00080_TP	C3L-00080_NB	G	G																c.1492G>C	p.Val498Leu	p.V498L	ENST00000574946	9/9	502	428	74	353	353	0	strelka-varscan-mutect	WSCD1,missense_variant,p.Val498Leu,ENST00000574946,;WSCD1,missense_variant,p.Val498Leu,ENST00000317744,NM_015253.1;WSCD1,missense_variant,p.Val498Leu,ENST00000539421,;WSCD1,missense_variant,p.Val498Leu,ENST00000574232,;WSCD1,missense_variant,p.Val382Leu,ENST00000573634,;WSCD1,3_prime_UTR_variant,,ENST00000571494,;	C	ENST00000574946	Transcript	missense_variant	1882/5884	1492/1728	498/575	V/L	Gtg/Ctg	rs748708422	1		1	WSCD1	HGNC	HGNC:29060	protein_coding	YES	CCDS32538.1	ENSP00000460825	Q658N2		UPI0000197208		tolerated(0.31)		9/9		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF90,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		rs748708422	.												C	3	2	7	6120425	6120425	G	C	1	0	0	0	0	1	0	0	0	17963	1261	44	4		4	WSCD1	17	6120425	Missense_Mutation	SNP	G	C3L-00080_TP	2699222	6120425	77137016	644	2855											
ACAP1	0	.	GRCh38	chr17	7343880	7343880	+	Frame_Shift_Del	DEL	C	C	-																															ggtgctgcgtttggtggaggCccaggctacccatttccagc																								novel		C3L-00080_TP	C3L-00080_NB	C	C																c.595delC	p.Gln199ArgfsTer12	p.Q199Rfs*12	ENST00000158762	8/22	213	149	64	163	163	0	sindel-varindel-pindel	ACAP1,frameshift_variant,p.Gln199ArgfsTer12,ENST00000158762,NM_014716.3;ACAP1,frameshift_variant,p.Gln125ArgfsTer12,ENST00000570457,;ACAP1,downstream_gene_variant,,ENST00000575425,;ACAP1,non_coding_transcript_exon_variant,,ENST00000573893,;ACAP1,non_coding_transcript_exon_variant,,ENST00000571220,;ACAP1,upstream_gene_variant,,ENST00000570439,;ACAP1,downstream_gene_variant,,ENST00000576628,;ACAP1,upstream_gene_variant,,ENST00000576594,;	-	ENST00000158762	Transcript	frameshift_variant	799/2512	593/2223	198/740	A/X	gCc/gc		1		1	ACAP1	HGNC	HGNC:16467	protein_coding	YES	CCDS11101.1	ENSP00000158762	Q15027		UPI000012749A	NM_014716.3			8/22		hmmpanther:PTHR23180:SF197,hmmpanther:PTHR23180,Pfam_domain:PF16746,Gene3D:1.20.1270.60,Superfamily_domains:SSF103657																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	7	7343880	7343880	C	-	1	0	1	0	1	0	0	0	0	161	739	26	0		0	ACAP1	17	7343880	Frame_Shift_Del	DEL	C	C3L-00080_TP	1223455	7343880	75913561	645	2856											
ZBTB4	0	.	GRCh38	chr17	7466063	7466063	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgggtctgcagccgttTgggatggatgaagctttttc	6	14	13	8	1	2	1	1	1	1	0	3	3	2	3	1	3	3	3	1	3	1	3	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.739A>T	p.Lys247Ter	p.K247*	ENST00000311403	3/4	86	67	19	65	65	0	strelka-varscan-mutect	ZBTB4,stop_gained,p.Lys247Ter,ENST00000311403,NM_020899.3;ZBTB4,stop_gained,p.Lys247Ter,ENST00000380599,NM_001128833.1;	A	ENST00000311403	Transcript	stop_gained	1079/5956	739/3042	247/1013	K/*	Aaa/Taa		1		-1	ZBTB4	HGNC	HGNC:23847	protein_coding	YES	CCDS11107.1	ENSP00000307858	Q9P1Z0		UPI00001A9C9A	NM_020899.3			3/4		PROSITE_profiles:PS50157,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF302,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	7	7466063	7466063	T	A	1	0	0	0	0	0	1	0	0	18110	1821	63	4		4	ZBTB4	17	7466063	Nonsense_Mutation	SNP	T	C3L-00080_TP	122183	7466063	75791378	646	2857											
TP53	0	.	GRCh38	chr17	7674229	7674229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgggcctccggttcatgCcgcccatgcaggaactgtta	7	9	13	12	2	1	0	1	0	0	0	2	2	2	2	4	4	3	3	4	4	2	2	rs121912656		C3L-00080_TP	C3L-00080_NB	C	C																c.734G>T	p.Gly245Val	p.G245V	ENST00000269305	7/11	409	168	241	302	302	0	strelka-varscan-mutect	TP53,missense_variant,p.Gly245Val,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Gly245Val,ENST00000420246,;TP53,missense_variant,p.Gly206Val,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Gly206Val,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Gly245Val,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Gly206Val,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Gly245Val,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Gly206Val,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Gly245Val,ENST00000445888,;TP53,missense_variant,p.Gly206Val,ENST00000619485,;TP53,missense_variant,p.Gly113Val,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Gly86Val,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Gly113Val,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Gly86Val,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Gly113Val,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Gly86Val,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Gly245Val,ENST00000359597,;TP53,missense_variant,p.Gly234Val,ENST00000615910,;TP53,missense_variant,p.Gly245Val,ENST00000413465,;TP53,missense_variant,p.Gly113Val,ENST00000509690,;TP53,missense_variant,p.Gly152Val,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Gly206Val,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	924/2579	734/1182	245/393	G/V	gGc/gTc	rs121912656,CM010464,CM900209,TP53_g.13371G>C,TP53_g.13371del,TP53_g.13371G>A,TP53_g.13371G>T,COSM11196,COSM131475,COSM131476,COSM131477,COSM1640832,COSM1646856,COSM179805,COSM179806,COSM179807,COSM3388184,COSM3388185,COSM3388186,COSM3388187,COSM3388188,COSM3388189,COSM3717638,COSM43606,COSM43965,COSM45770	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										pathogenic	0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs121912656	.												A	3	1	7	7674229	7674229	C	A	1	0	0	0	0	1	0	0	0	16859	739	26	2		2	TP53	17	7674229	Missense_Mutation	SNP	C	C3L-00080_TP	208166	7674229	75583212	647	2858											
MYH8	0	.	GRCh38	chr17	10409279	10409279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaggacacagaaagtacCtgcttcagcactagcatacg	15	8	8	10	1	1	1	1	0	0	1	1	2	1	2	1	1	5	4	1	1	5	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1897G>A	p.Asp633Asn	p.D633N	ENST00000403437	16/40	382	337	45	318	318	0	strelka-varscan-mutect	MYH8,missense_variant,p.Asp633Asn,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000403437	Transcript	missense_variant,splice_region_variant	1992/6041	1897/5814	633/1937	D/N	Gat/Aat		1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2	tolerated(0.26)		16/40		Low_complexity_(Seg):seg,PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF368,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	7	10409279	10409279	C	T	1	0	0	0	0	1	0	0	0	10041	695	24	3		3	MYH8	17	10409279	Missense_Mutation	SNP	C	C3L-00080_TP	2735050	10409279	72848162	648	2859											
MYH4	0	.	GRCh38	chr17	10453330	10453330	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctgtgaggtttttcaccTttagattagaacagatgacc	10	15	8	8	0	2	5	1	2	1	3	2	5	2	5	2	1	1	1	2	1	3	6	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.2935-2A>C		p.X979_splice	ENST00000255381		266	172	94	220	218	2	strelka-varscan-mutect	MYH4,splice_acceptor_variant,,ENST00000255381,NM_017533.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	G	ENST00000255381	Transcript	splice_acceptor_variant	-/6016	2935/5820	979/1939				1		-1	MYH4	HGNC	HGNC:7574	protein_coding	YES	CCDS11154.1	ENSP00000255381	Q9Y623		UPI000013CEAB	NM_017533.2				23/39																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	7	10453330	10453330	T	G	1	0	0	0	0	0	0	1	0	10037	1623	56	5		5	MYH4	17	10453330	Splice_Site	SNP	T	C3L-00080_TP	44051	10453330	72804111	649	2860											
MYH2	0	.	GRCh38	chr17	10537461	10537461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacttgcccaggtgctggtCatacagcttgttcttgaagg	8	12	12	9	0	2	2	1	1	1	1	2	2	2	2	1	3	4	3	1	3	2	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1669G>C	p.Asp557His	p.D557H	ENST00000245503	16/40	249	170	79	144	144	0	strelka-varscan-mutect	MYH2,missense_variant,p.Asp557His,ENST00000245503,NM_017534.5;MYH2,missense_variant,p.Asp557His,ENST00000397183,NM_001100112.1;MYH2,missense_variant,p.Asp557His,ENST00000532183,;MYH2,missense_variant,p.Asp557His,ENST00000622564,;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,downstream_gene_variant,,ENST00000581304,;	G	ENST00000245503	Transcript	missense_variant	2054/6339	1669/5826	557/1941	D/H	Gac/Cac		1		-1	MYH2	HGNC	HGNC:7572	protein_coding	YES	CCDS11156.1	ENSP00000245503	Q9UKX2		UPI000012FB6C	NM_017534.5	deleterious(0)		16/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF385,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1025369497	.												G	3	3	7	10537461	10537461	C	G	1	0	0	0	0	1	0	0	0	10035	826	29	4		4	MYH2	17	10537461	Missense_Mutation	SNP	C	C3L-00080_TP	84131	10537461	72719980	650	2861											
MYH3	0	.	GRCh38	chr17	10654945	10654945	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcttcctttgagtccacCacgaagcaatacgtcttggc	9	13	7	12	2	2	1	0	1	2	0	4	2	4	1	3	1	2	1	3	1	4	6	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.120G>T	p.=	p.V40V	ENST00000583535	3/41	738	304	434	621	620	1	strelka-varscan-mutect	MYH3,synonymous_variant,p.=,ENST00000583535,NM_002470.3;CTC-297N7.1,downstream_gene_variant,,ENST00000569543,;MYH3,non_coding_transcript_exon_variant,,ENST00000582580,;MYH3,upstream_gene_variant,,ENST00000579489,;	A	ENST00000583535	Transcript	synonymous_variant	208/6037	120/5823	40/1940	V	gtG/gtT		1		-1	MYH3	HGNC	HGNC:7573	protein_coding	YES	CCDS11157.1	ENSP00000464317	P11055		UPI000013C892	NM_002470.3			3/41		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF427,Pfam_domain:PF02736																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	7	10654945	10654945	C	A	1	0	0	0	0	0	0	0	1	10036	581	21	2		2	MYH3	17	10654945	Silent	SNP	C	C3L-00080_TP	117484	10654945	72602496	651	2862											
MYOCD	0	.	GRCh38	chr17	12763640	12763640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttcacttgcagcagtGgtagaatgcccaatgcacca	11	8	10	12	0	1	1	1	0	0	1	1	2	1	2	3	2	4	4	3	2	3	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2957G>T	p.Trp986Leu	p.W986L	ENST00000425538	14/14	41	15	26	36	36	0	strelka-varscan-mutect	MYOCD,missense_variant,p.Trp986Leu,ENST00000425538,NM_001146312.2;MYOCD,missense_variant,p.Trp648Leu,ENST00000443061,;MYOCD,missense_variant,p.Trp938Leu,ENST00000343344,NM_153604.3;RP11-1090M7.1,non_coding_transcript_exon_variant,,ENST00000584772,;	T	ENST00000425538	Transcript	missense_variant	3157/8466	2957/2961	986/986	W/L	tGg/tTg		1		1	MYOCD	HGNC	HGNC:16067	protein_coding	YES	CCDS54091.1	ENSP00000401678	Q8IZQ8		UPI000022A2E2	NM_001146312.2	deleterious(0)		14/14		hmmpanther:PTHR22793:SF11,hmmpanther:PTHR22793																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	12763640	12763640	G	T	1	0	0	0	0	1	0	0	0	10088	1362	47	2		2	MYOCD	17	12763640	Missense_Mutation	SNP	G	C3L-00080_TP	2108695	12763640	70493801	652	2863											
CDRT15	0	.	GRCh38	chr17	14236307	14236307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttcaggcagctcctcgttgGtctggtccttggctggagct	3	14	13	11	1	2	0	1	0	1	0	5	1	4	1	2	5	2	5	2	5	0	3	rs760712390		C3L-00080_TP	C3L-00080_NB	G	G																c.386C>A	p.Thr129Asn	p.T129N	ENST00000420162	2/3	183	95	88	114	114	0	strelka-varscan-mutect	CDRT15,missense_variant,p.Thr129Asn,ENST00000420162,NM_001007530.1;CDRT15,missense_variant,p.Thr63Asn,ENST00000431716,;	T	ENST00000420162	Transcript	missense_variant	402/766	386/567	129/188	T/N	aCc/aAc	rs760712390	1		-1	CDRT15	HGNC	HGNC:14395	protein_coding	YES	CCDS32569.1	ENSP00000402355	Q96T59		UPI00000702CA	NM_001007530.1	tolerated_low_confidence(0.07)		2/3		hmmpanther:PTHR16471,hmmpanther:PTHR16471:SF3																	MODERATE	1	SNV	1			1										PASS		rs760712390	.												T	3	4	7	14236307	14236307	G	T	1	0	0	0	0	1	0	0	0	2880	1261	44	2		2	CDRT15	17	14236307	Missense_Mutation	SNP	G	C3L-00080_TP	1472667	14236307	69021134	653	2864											
NCOR1	0	.	GRCh38	chr17	16032297	16032297	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccctcactttgtgcagttCagtcatcactatccgacagg	8	12	7	14	1	4	0	4	0	0	0	6	1	6	0	3	1	1	2	3	1	1	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.7322G>C	p.Ter2441SerextTer15	p.*2441Sext*15	ENST00000268712	46/46	284	194	90	228	228	0	strelka-varscan-mutect	NCOR1,stop_lost,p.Ter2441SerextTer15,ENST00000268712,NM_006311.3;NCOR1,stop_lost,p.Ter2344SerextTer15,ENST00000395857,;NCOR1,stop_lost,p.Ter2338SerextTer15,ENST00000395851,NM_001190440.1;NCOR1,stop_lost,p.Ter1072SerextTer15,ENST00000395849,;TTC19,intron_variant,,ENST00000470649,;TTC19,downstream_gene_variant,,ENST00000261647,NM_017775.3,NM_001271420.1;NCOR1,downstream_gene_variant,,ENST00000579573,;TTC19,downstream_gene_variant,,ENST00000497842,;NCOR1,non_coding_transcript_exon_variant,,ENST00000470782,;NCOR1,non_coding_transcript_exon_variant,,ENST00000464381,;NCOR1,non_coding_transcript_exon_variant,,ENST00000580617,;TTC19,downstream_gene_variant,,ENST00000481107,;TTC19,downstream_gene_variant,,ENST00000465567,;TTC19,downstream_gene_variant,,ENST00000475723,;NCOR1,downstream_gene_variant,,ENST00000582565,;	G	ENST00000268712	Transcript	stop_lost	7580/10720	7322/7323	2441/2440	*/S	tGa/tCa		1		-1	NCOR1	HGNC	HGNC:7672	protein_coding	YES	CCDS11175.1	ENSP00000268712	O75376	A0A024RD47	UPI000013D7D5	NM_006311.3			46/46																			HIGH	1	SNV	1			1										PASS		.	.												G	4	3	7	16032297	16032297	C	G	1	0	0	0	0	0	0	0	0	10254	837	29	4		4	NCOR1	17	16032297	Nonstop_Mutation	SNP	C	C3L-00080_TP	1795990	16032297	67225144	654	2865											
SLC5A10	0	.	GRCh38	chr17	18959636	18959636	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggcactggcatgggtGttcgtgcccatctacatctc	5	12	11	13	1	2	0	0	0	2	0	4	0	2	0	1	3	3	4	1	3	1	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.321G>T	p.=	p.V107V	ENST00000395647	4/15	343	152	191	311	311	0	strelka-varscan-mutect	SLC5A10,synonymous_variant,p.=,ENST00000317977,NM_001282417.1;SLC5A10,synonymous_variant,p.=,ENST00000395647,NM_152351.4;SLC5A10,synonymous_variant,p.=,ENST00000395645,NM_001042450.2;SLC5A10,synonymous_variant,p.=,ENST00000417251,NM_001270649.1;SLC5A10,synonymous_variant,p.=,ENST00000395643,NM_001270648.1;	T	ENST00000395647	Transcript	synonymous_variant	362/2140	321/1839	107/612	V	gtG/gtT		1		1	SLC5A10	HGNC	HGNC:23155	protein_coding	YES	CCDS11201.2	ENSP00000379008	A0PJK1		UPI00001401D2	NM_152351.4			4/15		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF128,TIGRFAM_domain:TIGR00813,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	7	18959636	18959636	G	T	1	0	0	0	0	0	0	0	1	14945	1364	48	2		2	SLC5A10	17	18959636	Silent	SNP	G	C3L-00080_TP	2927339	18959636	64297805	655	2866											
KRTAP4-9	0	.	GRCh38	chr17	41105876	41105876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctgctgccgcccctCttgctgtgaatccagctgct	4	11	9	17	1	1	1	0	1	1	0	3	1	3	1	5	0	6	5	5	0	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.488C>A	p.Ser163Tyr	p.S163Y	ENST00000391415	1/1	602	512	90	357	357	0	strelka-varscan-mutect	KRTAP4-9,missense_variant,p.Ser163Tyr,ENST00000391415,NM_001146041.1;KRTAP4-7,missense_variant,p.Ser158Tyr,ENST00000612231,;KRTAP4-9,missense_variant,p.Ser138Tyr,ENST00000617453,;KRTAP4-16,upstream_gene_variant,,ENST00000440582,;	A	ENST00000391415	Transcript	missense_variant	545/1157	488/633	163/210	S/Y	tCt/tAt		1		1	KRTAP4-9	HGNC	HGNC:18910	protein_coding	YES	CCDS54124.1	ENSP00000375234	Q9BYQ8		UPI000021D2D3	NM_001146041.1	tolerated(0.08)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF1																	MODERATE	1	SNV				1										PASS		rs1266002911	.												A	3	1	7	41105876	41105876	C	A	1	0	0	0	0	1	0	0	0	8452	913	32	2		2	KRTAP4-9	17	41105876	Missense_Mutation	SNP	C	C3L-00080_TP	22146240	41105876	42151565	656	2867											
KRTAP4-2	0	.	GRCh38	chr17	41177978	41177978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtggtctggcagcagctggGgctgcagcaggtgggctggc	5	7	20	9	0	1	0	0	0	1	0	1	0	1	0	0	7	4	7	0	7	0	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.187C>A	p.Pro63Thr	p.P63T	ENST00000377726	1/1	537	465	72	299	299	0	strelka-varscan-mutect	KRTAP4-2,missense_variant,p.Pro63Thr,ENST00000377726,NM_033062.3;	T	ENST00000377726	Transcript	missense_variant	231/763	187/411	63/136	P/T	Ccc/Acc		1		-1	KRTAP4-2	HGNC	HGNC:18900	protein_coding	YES	CCDS11384.1	ENSP00000366955	Q9BYR5		UPI0000246F2E	NM_033062.3	deleterious(0.03)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF14,Pfam_domain:PF13885																	MODERATE	1	SNV				1										PASS		rs1183341790	.												T	3	4	7	41177978	41177978	G	T	1	0	0	0	0	1	0	0	0	8445	1232	43	2		2	KRTAP4-2	17	41177978	Missense_Mutation	SNP	G	C3L-00080_TP	72102	41177978	42079463	657	2868											
WNK4	0	.	GRCh38	chr17	42784552	42784552	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactccgagtgccagaatgcCgcgcaaatctaccgcaaggt	11	7	10	13	4	1	1	0	0	1	1	2	2	2	1	4	1	4	2	4	1	5	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1143C>G	p.=	p.A381A	ENST00000246914	4/19	647	515	132	448	448	0	strelka-varscan-mutect	WNK4,synonymous_variant,p.=,ENST00000246914,NM_032387.4;VPS25,downstream_gene_variant,,ENST00000253794,NM_032353.3;WNK4,upstream_gene_variant,,ENST00000587705,;WNK4,synonymous_variant,p.=,ENST00000591448,NM_001321299.1;WNK4,upstream_gene_variant,,ENST00000592072,;WNK4,downstream_gene_variant,,ENST00000592669,;	G	ENST00000246914	Transcript	synonymous_variant	1164/4001	1143/3732	381/1243	A	gcC/gcG		1		1	WNK4	HGNC	HGNC:14544	protein_coding	YES	CCDS11439.1	ENSP00000246914	Q96J92		UPI000006FC0F	NM_032387.4			4/19		PROSITE_profiles:PS50011,hmmpanther:PTHR13902:SF52,hmmpanther:PTHR13902,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		rs1212608085	.												G	2	3	7	42784552	42784552	C	G	1	0	0	0	0	0	0	0	1	17936	639	23	4		4	WNK4	17	42784552	Silent	SNP	C	C3L-00080_TP	1606574	42784552	40472889	658	2869											
SPPL2C	0	.	GRCh38	chr17	45845129	45845130	+	Frame_Shift_Ins	INS	-	-	C																															ctggtgcccgggtgaggattINSccccccaccaggcccagctc																								novel		C3L-00080_TP	C3L-00080_NB	-	-																c.229dupC	p.His77ProfsTer24	p.H77Pfs*24	ENST00000329196	1/1	144	122	22	108	108	0	sindel-varindel-pindel	SPPL2C,frameshift_variant,p.His77ProfsTer24,ENST00000329196,NM_175882.2;MAPT-AS1,intron_variant,,ENST00000634876,;MAPT-AS1,intron_variant,,ENST00000579599,;MAPT-AS1,intron_variant,,ENST00000579244,;MAPT-AS1,upstream_gene_variant,,ENST00000581125,;	C	ENST00000329196	Transcript	frameshift_variant	295-296/2238	223-224/2055	75/684	S/SX	tcc/tCcc		1		1	SPPL2C	HGNC	HGNC:28902	protein_coding	YES	CCDS32673.1	ENSP00000332488	Q8IUH8		UPI0000EE80B4	NM_175882.2			1/1		hmmpanther:PTHR12174,hmmpanther:PTHR12174:SF38																	HIGH		insertion		6		1										PASS		.	.												C	7	5	7	45845129	45845129	-	C	1	0	1	1	0	0	0	0	0	15443	1783	62	0		0	SPPL2C	17	45845129	Frame_Shift_Ins	INS	-	C3L-00080_TP	3060577	45845129	37412312	659	2870											
NPEPPS	0	.	GRCh38	chr17	47587345	47587345	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggaaatcttgttactatgGtatttaatatttttaagtgc	11	20	7	3	0	1	0	0	0	1	0	1	1	1	1	0	2	2	2	0	2	7	11	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1095+1G>T		p.X365_splice	ENST00000322157		128	99	29	105	105	0	strelka-mutect	NPEPPS,splice_donor_variant,,ENST00000322157,NM_006310.3;NPEPPS,splice_donor_variant,,ENST00000530173,;NPEPPS,splice_donor_variant,,ENST00000527964,;NPEPPS,splice_donor_variant,,ENST00000527360,;NPEPPS,downstream_gene_variant,,ENST00000525007,;NPEPPS,splice_donor_variant,,ENST00000525037,;NPEPPS,splice_donor_variant,,ENST00000534814,;NPEPPS,splice_donor_variant,,ENST00000602788,;NPEPPS,splice_donor_variant,,ENST00000530514,;NPEPPS,splice_donor_variant,,ENST00000527298,;NPEPPS,splice_donor_variant,,ENST00000533538,;NPEPPS,splice_donor_variant,,ENST00000525021,;NPEPPS,downstream_gene_variant,,ENST00000532729,;NPEPPS,downstream_gene_variant,,ENST00000527824,;NPEPPS,downstream_gene_variant,,ENST00000526247,;NPEPPS,downstream_gene_variant,,ENST00000534691,;NPEPPS,downstream_gene_variant,,ENST00000534727,;NPEPPS,upstream_gene_variant,,ENST00000529602,;NPEPPS,downstream_gene_variant,,ENST00000525401,;	T	ENST00000322157	Transcript	splice_donor_variant	-/4353	1095/2760	365/919				1		1	NPEPPS	HGNC	HGNC:7900	protein_coding	YES	CCDS45721.1	ENSP00000320324	P55786		UPI0000140D51	NM_006310.3				9/22																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	7	47587345	47587345	G	T	1	0	0	0	0	0	0	1	0	10623	1275	44	2		2	NPEPPS	17	47587345	Splice_Site	SNP	G	C3L-00080_TP	1742216	47587345	35670096	660	2871											
SCRN2	0	.	GRCh38	chr17	47839445	47839445	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagggaacacctcaccCtggatcctctgtgcagccca	11	6	10	14	0	2	1	1	0	1	1	3	4	3	3	4	2	3	1	4	2	2	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.555G>T	p.Gln185His	p.Q185H	ENST00000290216	4/8	274	233	41	186	184	2	strelka-varscan-mutect	SCRN2,missense_variant,p.Gln185His,ENST00000407215,NM_001145023.1;SCRN2,missense_variant,p.Gln193His,ENST00000584123,;SCRN2,missense_variant,p.Gln185His,ENST00000290216,NM_138355.3;SCRN2,missense_variant,p.Gln51His,ENST00000584567,;LRRC46,downstream_gene_variant,,ENST00000269025,NM_033413.3;SCRN2,downstream_gene_variant,,ENST00000578323,;SCRN2,missense_variant,p.Gln185His,ENST00000581645,;SCRN2,splice_region_variant,,ENST00000582459,;SCRN2,splice_region_variant,,ENST00000579856,;SCRN2,splice_region_variant,,ENST00000583090,;SCRN2,splice_region_variant,,ENST00000582656,;LRRC46,downstream_gene_variant,,ENST00000584580,;SCRN2,downstream_gene_variant,,ENST00000581546,;SCRN2,downstream_gene_variant,,ENST00000578840,;LRRC46,downstream_gene_variant,,ENST00000579971,;LRRC46,downstream_gene_variant,,ENST00000584809,;LRRC46,downstream_gene_variant,,ENST00000579742,;SCRN2,downstream_gene_variant,,ENST00000580428,;	A	ENST00000290216	Transcript	missense_variant,splice_region_variant	681/1548	555/1278	185/425	Q/H	caG/caT		1		-1	SCRN2	HGNC	HGNC:30381	protein_coding	YES	CCDS11519.1	ENSP00000290216	Q96FV2		UPI000013DFCB	NM_138355.3	deleterious(0.04)		4/8		Pfam_domain:PF03577,hmmpanther:PTHR12994,hmmpanther:PTHR12994:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	47839445	47839445	C	A	1	0	0	0	0	1	0	0	0	14209	695	24	2		2	SCRN2	17	47839445	Missense_Mutation	SNP	C	C3L-00080_TP	252100	47839445	35417996	661	2872											
CACNA1G	0	.	GRCh38	chr17	50617450	50617450	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttccaggtggaaccagctGgacctggccattgtgctgct	6	11	12	12	0	0	0	0	0	0	0	1	2	1	2	4	4	4	3	4	4	1	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.5034G>A	p.=	p.L1678L	ENST00000359106	29/38	147	96	51	58	58	0	strelka-varscan-mutect	CACNA1G,synonymous_variant,p.=,ENST00000354983,NM_198396.2;CACNA1G,synonymous_variant,p.=,ENST00000352832,NM_198387.2;CACNA1G,synonymous_variant,p.=,ENST00000359106,NM_018896.4;CACNA1G,synonymous_variant,p.=,ENST00000360761,NM_198382.2;CACNA1G,synonymous_variant,p.=,ENST00000442258,NM_198388.2;CACNA1G,synonymous_variant,p.=,ENST00000429973,NM_198386.2;CACNA1G,synonymous_variant,p.=,ENST00000507336,NM_198377.2;CACNA1G,synonymous_variant,p.=,ENST00000358244,NM_198376.2;CACNA1G,synonymous_variant,p.=,ENST00000507510,NM_198385.2;CACNA1G,synonymous_variant,p.=,ENST00000515765,NM_198380.2;CACNA1G,synonymous_variant,p.=,ENST00000515411,NM_001256324.1;CACNA1G,synonymous_variant,p.=,ENST00000502264,NM_198383.2;CACNA1G,synonymous_variant,p.=,ENST00000510115,NM_198379.2;CACNA1G,synonymous_variant,p.=,ENST00000514079,NM_001256325.1;CACNA1G,synonymous_variant,p.=,ENST00000513689,NM_001256326.1;CACNA1G,synonymous_variant,p.=,ENST00000515165,NM_198384.2;CACNA1G,synonymous_variant,p.=,ENST00000507609,NM_001256327.1;CACNA1G,synonymous_variant,p.=,ENST00000512389,NM_198378.2;CACNA1G,synonymous_variant,p.=,ENST00000514181,NM_001256328.1;CACNA1G,synonymous_variant,p.=,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,synonymous_variant,p.=,ENST00000513964,NM_001256360.1,NM_001256361.1,NM_001256330.1;CACNA1G,synonymous_variant,p.=,ENST00000510366,NM_001256331.1;CACNA1G,synonymous_variant,p.=,ENST00000514717,NM_001256332.1;CACNA1G,synonymous_variant,p.=,ENST00000505165,NM_001256333.1;CACNA1G,synonymous_variant,p.=,ENST00000507896,NM_001256334.1;CACNA1G,synonymous_variant,p.=,ENST00000506406,;CACNA1G,synonymous_variant,p.=,ENST00000504076,;CACNA1G,synonymous_variant,p.=,ENST00000511765,;CACNA1G,synonymous_variant,p.=,ENST00000503436,;CACNA1G,synonymous_variant,p.=,ENST00000511768,;CACNA1G,synonymous_variant,p.=,ENST00000503607,;	A	ENST00000359106	Transcript	synonymous_variant	5034/7648	5034/7134	1678/2377	L	ctG/ctA		1		1	CACNA1G	HGNC	HGNC:1394	protein_coding	YES	CCDS45730.1	ENSP00000352011	O43497		UPI000012727A	NM_018896.4			29/38		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137,Superfamily_domains:SSF81324																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	50617450	50617450	G	A	1	0	0	0	0	0	0	0	1	2232	1335	47	3		3	CACNA1G	17	50617450	Silent	SNP	G	C3L-00080_TP	2778005	50617450	32639991	662	2873											
NOG	0	.	GRCh38	chr17	56594829	56594829	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtccgtgcacctcacggtGctgcggtggcgctgtcagcg	5	8	15	13	5	2	0	2	0	0	0	3	0	3	0	2	3	4	3	2	3	1	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.606G>T	p.=	p.V202V	ENST00000332822	1/1	124	65	59	84	84	0	strelka-varscan-mutect	NOG,synonymous_variant,p.=,ENST00000332822,NM_005450.4;	T	ENST00000332822	Transcript	synonymous_variant	1131/1892	606/699	202/232	V	gtG/gtT		1		1	NOG	HGNC	HGNC:7866	protein_coding	YES	CCDS11589.1	ENSP00000328181	Q13253		UPI0000130342	NM_005450.4			1/1		Gene3D:2.10.90.10,Pfam_domain:PF05806,PIRSF_domain:PIRSF008129,hmmpanther:PTHR10494,hmmpanther:PTHR10494:SF5,Superfamily_domains:SSF57501																	LOW	1	SNV				1										PASS		.	.												T	2	4	7	56594829	56594829	G	T	1	0	0	0	0	0	0	0	1	10562	1306	46	2		2	NOG	17	56594829	Silent	SNP	G	C3L-00080_TP	5977379	56594829	26662612	663	2874											
BRIP1	0	.	GRCh38	chr17	61780288	61780288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttaatgatatgattagcCtccagctggatagtaaatgt	12	16	8	5	0	0	2	0	2	0	0	1	3	1	3	2	1	2	2	2	1	6	7	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1908G>T	p.Glu636Asp	p.E636D	ENST00000259008	13/20	178	88	90	229	229	0	strelka-varscan-mutect	BRIP1,missense_variant,p.Glu636Asp,ENST00000259008,NM_032043.2;BRIP1,missense_variant,p.Glu636Asp,ENST00000577598,;BRIP1,upstream_gene_variant,,ENST00000584322,;BRIP1,upstream_gene_variant,,ENST00000583837,;BRIP1,3_prime_UTR_variant,,ENST00000579028,;	A	ENST00000259008	Transcript	missense_variant	2176/6048	1908/3750	636/1249	E/D	gaG/gaT		1		-1	BRIP1	HGNC	HGNC:20473	protein_coding	YES	CCDS11631.1	ENSP00000259008	Q9BX63	A0A024QZ45	UPI000013D01F	NM_032043.2	deleterious(0)		13/20		hmmpanther:PTHR11472:SF6,hmmpanther:PTHR11472,TIGRFAM_domain:TIGR00604																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	61780288	61780288	C	A	1	0	0	0	0	1	0	0	0	1688	680	24	2		2	BRIP1	17	61780288	Missense_Mutation	SNP	C	C3L-00080_TP	5185459	61780288	21477153	664	2875											
ACE	0	.	GRCh38	chr17	63482610	63482610	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcttccatgaggccattggGgacgtgctggcgctctcggt	4	10	16	11	3	1	1	0	1	1	0	3	2	2	2	2	6	1	3	2	6	0	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1263G>T	p.=	p.G421G	ENST00000290866	8/25	291	166	125	205	204	1	strelka-varscan-mutect	ACE,synonymous_variant,p.=,ENST00000428043,;ACE,synonymous_variant,p.=,ENST00000290866,NM_000789.3;ACE,upstream_gene_variant,,ENST00000290863,NM_152830.2;ACE,upstream_gene_variant,,ENST00000413513,NM_001178057.1;ACE,downstream_gene_variant,,ENST00000582627,;ACE,upstream_gene_variant,,ENST00000582761,;ACE,non_coding_transcript_exon_variant,,ENST00000584529,;ACE,downstream_gene_variant,,ENST00000583336,;ACE,3_prime_UTR_variant,,ENST00000582678,;CTD-2501B8.1,upstream_gene_variant,,ENST00000577647,;ACE,upstream_gene_variant,,ENST00000579314,;ACE,upstream_gene_variant,,ENST00000578839,;ACE,upstream_gene_variant,,ENST00000584865,;ACE,upstream_gene_variant,,ENST00000582005,;ACE,downstream_gene_variant,,ENST00000580318,;ACE,upstream_gene_variant,,ENST00000579726,;ACE,downstream_gene_variant,,ENST00000579462,;ACE,upstream_gene_variant,,ENST00000579204,;	T	ENST00000290866	Transcript	synonymous_variant	1287/4959	1263/3921	421/1306	G	ggG/ggT		1		1	ACE	HGNC	HGNC:2707	protein_coding	YES	CCDS11637.1	ENSP00000290866	P12821		UPI000002B8AD	NM_000789.3			8/25		Pfam_domain:PF01401,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	63482610	63482610	G	T	1	0	0	0	0	0	0	0	1	174	1219	43	2		2	ACE	17	63482610	Silent	SNP	G	C3L-00080_TP	1702322	63482610	19774831	665	2876											
KCNH6	0	.	GRCh38	chr17	63543629	63543629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcctggcagccaagaccaCcaaggtttctttctcagtga	9	10	9	13	0	2	2	1	1	2	1	4	2	3	2	4	2	1	3	4	2	2	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2202C>A	p.His734Gln	p.H734Q	ENST00000583023	10/14	211	184	27	184	184	0	strelka-varscan-mutect	KCNH6,missense_variant,p.His734Gln,ENST00000583023,NM_030779.3;KCNH6,missense_variant,p.His734Gln,ENST00000314672,NM_001278919.1,NM_001278920.1;KCNH6,missense_variant,p.His681Gln,ENST00000581784,NM_173092.2;KCNH6,missense_variant,p.His681Gln,ENST00000456941,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	A	ENST00000583023	Transcript	missense_variant	2213/3821	2202/2985	734/994	H/Q	caC/caA		1		1	KCNH6	HGNC	HGNC:18862	protein_coding	YES	CCDS11638.1	ENSP00000463533	Q9H252		UPI000012DCAB	NM_030779.3	tolerated(0.61)		10/14		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF468																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	63543629	63543629	C	A	1	0	0	0	0	1	0	0	0	7952	506	18	2		2	KCNH6	17	63543629	Missense_Mutation	SNP	C	C3L-00080_TP	61019	63543629	19713812	666	2877											
CCDC47	0	.	GRCh38	chr17	63766080	63766080	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtcattatcatcatactcTactatgtcctcctcatcctc	10	15	2	14	0	5	0	4	0	1	0	9	0	8	0	3	0	2	0	3	0	5	4	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.96A>G	p.=	p.V32V	ENST00000225726	2/13	354	298	56	289	289	0	strelka-varscan-mutect	CCDC47,synonymous_variant,p.=,ENST00000225726,NM_020198.2;CCDC47,synonymous_variant,p.=,ENST00000403162,;CCDC47,synonymous_variant,p.=,ENST00000582252,;CCDC47,upstream_gene_variant,,ENST00000612558,;CCDC47,downstream_gene_variant,,ENST00000580986,;CCDC47,non_coding_transcript_exon_variant,,ENST00000584112,;CCDC47,upstream_gene_variant,,ENST00000582331,;	C	ENST00000225726	Transcript	synonymous_variant	479/3466	96/1452	32/483	V	gtA/gtG		1		-1	CCDC47	HGNC	HGNC:24856	protein_coding	YES	CCDS11643.1	ENSP00000225726	Q96A33		UPI000003B0A2	NM_020198.2			2/13		hmmpanther:PTHR12883,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	7	63766080	63766080	T	C	1	0	0	0	0	0	0	0	1	2524	1509	53	5		5	CCDC47	17	63766080	Silent	SNP	T	C3L-00080_TP	222451	63766080	19491361	667	2878											
SMURF2	0	.	GRCh38	chr17	64580915	64580915	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtccacatgttgcaccatTtgttccactaattggagtgt	8	15	8	10	0	0	0	0	0	0	0	2	1	2	1	3	1	1	3	3	1	1	5	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.646A>T	p.Asn216Tyr	p.N216Y	ENST00000262435	8/19	400	330	70	331	331	0	strelka-varscan-mutect	SMURF2,missense_variant,p.Asn216Tyr,ENST00000262435,NM_022739.3;SMURF2,missense_variant,p.Asn203Tyr,ENST00000585301,;SMURF2,intron_variant,,ENST00000578200,;SMURF2,3_prime_UTR_variant,,ENST00000582081,;SMURF2,3_prime_UTR_variant,,ENST00000578386,;	A	ENST00000262435	Transcript	missense_variant	834/2918	646/2247	216/748	N/Y	Aat/Tat		1		-1	SMURF2	HGNC	HGNC:16809	protein_coding	YES	CCDS32707.1	ENSP00000262435	Q9HAU4		UPI00001361C5	NM_022739.3	deleterious(0.01)		8/19		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF300																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	64580915	64580915	T	A	1	0	0	0	0	1	0	0	0	15141	1841	64	4		4	SMURF2	17	64580915	Missense_Mutation	SNP	T	C3L-00080_TP	814835	64580915	18676526	668	2879											
SDK2	0	.	GRCh38	chr17	73435501	73435501	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccggctgcattgcgggCgaagcactggaacatgccgg	7	6	15	13	5	0	0	0	0	0	0	1	2	0	1	2	4	5	3	2	4	2	1	rs148243066		C3L-00080_TP	C3L-00080_NB	C	C																c.1144G>T	p.Ala382Ser	p.A382S	ENST00000392650	9/45	125	66	59	68	68	0	strelka-varscan-mutect	SDK2,missense_variant,p.Ala382Ser,ENST00000392650,NM_001144952.1;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;	A	ENST00000392650	Transcript	missense_variant	1145/10723	1144/6519	382/2172	A/S	Gcc/Tcc	rs148243066,COSM4883693,COSM4883694	1		-1	SDK2	HGNC	HGNC:19308	protein_coding	YES	CCDS45769.1	ENSP00000376421	Q58EX2		UPI0000E5A088	NM_001144952.1	deleterious(0.02)		9/45		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF37,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs148243066	.												A	3	1	7	73435501	73435501	C	A	1	0	0	0	0	1	0	0	0	14244	768	27	1		1	SDK2	17	73435501	Missense_Mutation	SNP	C	C3L-00080_TP	8854586	73435501	9821940	669	2880											
RNF157	0	.	GRCh38	chr17	76158479	76158479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcctcttcatgcagcaCggaagagttttgggaagtgg	9	12	12	8	1	3	1	1	0	2	1	4	3	4	3	1	3	2	3	1	3	2	4	rs201495655		C3L-00080_TP	C3L-00080_NB	C	C																c.1327G>A	p.Val443Met	p.V443M	ENST00000269391	13/19	292	258	34	231	231	0	strelka-varscan-mutect	RNF157,missense_variant,p.Val443Met,ENST00000269391,NM_052916.2;RNF157,missense_variant,p.Val443Met,ENST00000319945,;RNF157,downstream_gene_variant,,ENST00000591615,;RNF157,upstream_gene_variant,,ENST00000591355,;RP11-449J21.5,downstream_gene_variant,,ENST00000590137,;RP11-449J21.5,downstream_gene_variant,,ENST00000586661,;RP11-449J21.5,downstream_gene_variant,,ENST00000585542,;RP11-449J21.5,downstream_gene_variant,,ENST00000592748,;RNF157,non_coding_transcript_exon_variant,,ENST00000592869,;RNF157,downstream_gene_variant,,ENST00000593155,;	T	ENST00000269391	Transcript	missense_variant	1460/4955	1327/2040	443/679	V/M	Gtg/Atg	rs201495655,COSM5656104,COSM5656105	1		-1	RNF157	HGNC	HGNC:29402	protein_coding	YES	CCDS32740.1	ENSP00000269391	Q96PX1		UPI00001C1FDD	NM_052916.2	tolerated_low_confidence(0.09)		13/19		hmmpanther:PTHR22996:SF1,hmmpanther:PTHR22996											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs201495655	.												T	3	4	7	76158479	76158479	C	T	1	0	0	0	0	1	0	0	0	13632	536	19	1		1	RNF157	17	76158479	Missense_Mutation	SNP	C	C3L-00080_TP	2722978	76158479	7098962	670	2881											
GAA	0	.	GRCh38	chr17	80118298	80118298	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgttctgggacgatggaGagagcctggaagtgctggag	9	8	18	6	1	1	1	0	0	1	1	1	7	1	5	1	4	3	3	1	4	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2587G>T	p.Glu863Ter	p.E863*	ENST00000302262	18/20	48	42	6	33	33	0	strelka-varscan-mutect	GAA,stop_gained,p.Glu863Ter,ENST00000302262,NM_000152.3;GAA,stop_gained,p.Glu863Ter,ENST00000390015,NM_001079803.1,NM_001079804.1;GAA,non_coding_transcript_exon_variant,,ENST00000573556,;GAA,downstream_gene_variant,,ENST00000572080,;	T	ENST00000302262	Transcript	stop_gained	2806/3626	2587/2859	863/952	E/*	Gag/Tag		1		1	GAA	HGNC	HGNC:4065	protein_coding	YES	CCDS32760.1	ENSP00000305692	P10253		UPI00000744FF	NM_000152.3			18/20		hmmpanther:PTHR22762:SF92,hmmpanther:PTHR22762																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	7	80118298	80118298	G	T	1	0	0	0	0	0	1	0	0	6018	943	33	2		2	GAA	17	80118298	Nonsense_Mutation	SNP	G	C3L-00080_TP	3959819	80118298	3139143	671	2882											
AKAIN1	0	.	GRCh38	chr18	5145621	5145621	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttggatgtggtcccggtTgtcactgattctctcttctc	4	16	10	11	1	4	1	1	1	3	0	7	2	5	2	1	3	0	2	1	3	0	4	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.151A>T	p.Asn51Tyr	p.N51Y	ENST00000434239	2/2	177	102	75	178	178	0	strelka-varscan-mutect	AKAIN1,missense_variant,p.Asn51Tyr,ENST00000434239,NM_001145194.1;AKAIN1,missense_variant,p.Asn58Tyr,ENST00000580650,;	A	ENST00000434239	Transcript	missense_variant	323/575	151/210	51/69	N/Y	Aac/Tac		1		-1	AKAIN1	HGNC	HGNC:28285	protein_coding	YES	CCDS54179.1	ENSP00000399075	P0CW23		UPI0000201977	NM_001145194.1	deleterious_low_confidence(0.02)		2/2		hmmpanther:PTHR15934																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	7	5145621	5145621	T	A	1	0	0	0	0	1	0	0	0	527	1812	63	4		4	AKAIN1	18	5145621	Missense_Mutation	SNP	T	C3L-00080_TP		5145621	75227664	672	2883											
ARHGAP28	0	.	GRCh38	chr18	6890540	6890540	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaggaagaccctcgagcgGgaggtaagacagcaaatgag	15	3	16	7	2	0	3	0	1	0	2	1	7	0	6	1	4	2	2	1	4	3	1	rs371935284		C3L-00080_TP	C3L-00080_NB	G	G																c.1368G>T	p.=	p.R456R	ENST00000419673	13/17	58	49	9	59	58	1	strelka-varscan-mutect	ARHGAP28,synonymous_variant,p.=,ENST00000419673,NM_001010000.2;ARHGAP28,synonymous_variant,p.=,ENST00000314319,;ARHGAP28,synonymous_variant,p.=,ENST00000262227,;ARHGAP28,synonymous_variant,p.=,ENST00000383472,;ARHGAP28,synonymous_variant,p.=,ENST00000531294,;ARHGAP28,synonymous_variant,p.=,ENST00000532996,;ARHGAP28,downstream_gene_variant,,ENST00000579689,;	T	ENST00000419673	Transcript	synonymous_variant	1585/5492	1368/1713	456/570	R	cgG/cgT	rs371935284	1		1	ARHGAP28	HGNC	HGNC:25509	protein_coding	YES	CCDS32785.1	ENSP00000392660	Q9P2N2		UPI00004CEC5C	NM_001010000.2			13/17		hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF5,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs371935284	.												T	2	4	7	6890540	6890540	G	T	1	0	0	0	0	0	0	0	1	1002	1246	43	2		2	ARHGAP28	18	6890540	Silent	SNP	G	C3L-00080_TP	1744919	6890540	73482745	673	2884											
LAMA1	0	.	GRCh38	chr18	6948448	6948448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagtatgttccttcctgggCcactgcgtagcacctgttca	8	12	9	12	1	1	0	1	0	0	0	3	0	3	0	4	1	2	5	4	1	3	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.8665G>A	p.Ala2889Thr	p.A2889T	ENST00000389658	60/63	529	432	97	487	487	0	strelka-varscan-mutect	LAMA1,missense_variant,p.Ala2889Thr,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,non_coding_transcript_exon_variant,,ENST00000492048,;	T	ENST00000389658	Transcript	missense_variant	8759/9657	8665/9228	2889/3075	A/T	Gcc/Acc		1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	tolerated(0.34)		60/63		Gene3D:2.60.120.200,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	7	6948448	6948448	C	T	1	0	0	0	0	1	0	0	0	8509	739	26	3		3	LAMA1	18	6948448	Missense_Mutation	SNP	C	C3L-00080_TP	57908	6948448	73424837	674	2885											
PIEZO2	0	.	GRCh38	chr18	10807211	10807211	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtaccacgacaggtccggGttcactatgatcttccaagt	9	11	10	11	2	2	1	1	1	1	0	4	2	4	1	3	3	1	2	3	3	3	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.981C>T	p.=	p.N327N	ENST00000503781	8/52	242	219	23	160	160	0	strelka-varscan-mutect	PIEZO2,synonymous_variant,p.=,ENST00000383408,;PIEZO2,synonymous_variant,p.=,ENST00000302079,;PIEZO2,synonymous_variant,p.=,ENST00000580640,;PIEZO2,synonymous_variant,p.=,ENST00000503781,NM_022068.3;PIEZO2,synonymous_variant,p.=,ENST00000579112,;PIEZO2,synonymous_variant,p.=,ENST00000582913,;	A	ENST00000503781	Transcript	synonymous_variant	981/8259	981/8259	327/2752	N	aaC/aaT		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3			8/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	10807211	10807211	G	A	1	0	0	0	0	0	0	0	1	11975	1252	44	3		3	PIEZO2	18	10807211	Silent	SNP	G	C3L-00080_TP	3858763	10807211	69566074	675	2886											
PIEZO2	0	.	GRCh38	chr18	10857001	10857001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtgtgggagacactcacCcgaggagcccagtaagatgg	11	5	14	11	1	1	2	1	0	0	2	1	5	1	3	3	3	1	1	3	3	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.703G>T	p.Gly235Cys	p.G235C	ENST00000503781	6/52	283	244	39	219	219	0	varscan-mutect	PIEZO2,missense_variant,p.Gly184Cys,ENST00000383408,;PIEZO2,missense_variant,p.Gly235Cys,ENST00000302079,;PIEZO2,missense_variant,p.Gly235Cys,ENST00000580640,;PIEZO2,missense_variant,p.Gly235Cys,ENST00000503781,NM_022068.3;PIEZO2,upstream_gene_variant,,ENST00000579112,;PIEZO2,downstream_gene_variant,,ENST00000579899,;PIEZO2,missense_variant,p.Gly235Cys,ENST00000582913,;	A	ENST00000503781	Transcript	missense_variant,splice_region_variant	703/8259	703/8259	235/2752	G/C	Ggc/Tgc		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3	deleterious(0)		6/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	10857001	10857001	C	A	1	0	0	0	0	1	0	0	0	11975	637	22	2		2	PIEZO2	18	10857001	Missense_Mutation	SNP	C	C3L-00080_TP	49790	10857001	69516284	676	2887											
ANKRD30B	0	.	GRCh38	chr18	14851569	14851569	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaattgcatgttgaaaaagGaaattgccatgctaaaactg	18	10	8	5	0	0	1	0	1	0	0	0	2	0	2	1	1	4	3	1	1	7	4			C3L-00080_TP	C3L-00080_NB	G	G																c.3268G>T	p.Glu1090Ter	p.E1090*	ENST00000358984	36/36	79	34	45	89	89	0	strelka-varscan-mutect	ANKRD30B,stop_gained,p.Glu1090Ter,ENST00000358984,NM_001145029.1;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000320584,;	T	ENST00000358984	Transcript	stop_gained	3448/4359	3268/4179	1090/1392	E/*	Gaa/Taa	COSM4542857	1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1			36/36		Pfam_domain:PF14915,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	7	14851569	14851569	G	T	1	0	0	0	0	0	1	0	0	762	1175	41	2		2	ANKRD30B	18	14851569	Nonsense_Mutation	SNP	G	C3L-00080_TP	3994568	14851569	65521716	677	2888			1	3		3	3	250	N	G_C_A	1.941411e-05
ANKRD30B	0	.	GRCh38	chr18	14851708	14851708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctaaaactgaaacagaaaaCagtaacaaaaagggcatctc	21	5	6	9	0	1	2	0	1	1	1	2	2	1	2	1	1	4	2	1	1	8	2	rs762515915		C3L-00080_TP	C3L-00080_NB	C	C																c.3407C>A	p.Thr1136Lys	p.T1136K	ENST00000358984	36/36	204	157	47	154	153	1	strelka-varscan-mutect	ANKRD30B,missense_variant,p.Thr1136Lys,ENST00000358984,NM_001145029.1;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000320584,;	A	ENST00000358984	Transcript	missense_variant	3587/4359	3407/4179	1136/1392	T/K	aCa/aAa	rs762515915	1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1	deleterious(0.03)		36/36		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14915,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20																	MODERATE	1	SNV	1			1										PASS		rs762515915	.												A	3	1	7	14851708	14851708	C	A	1	0	0	0	0	1	0	0	0	762	478	17	2		2	ANKRD30B	18	14851708	Missense_Mutation	SNP	C	C3L-00080_TP	139	14851708	65521577	678	2889			1	3		3	3	250	N	G_C_A	1.941411e-05
ANKRD30B	0	.	GRCh38	chr18	14851818	14851818	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaaagaaatactggagAcagaaattgaatcacaccat	21	6	7	7	0	1	5	1	1	0	4	1	6	1	5	1	1	1	0	1	1	6	2	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.3517A>C	p.Thr1173Pro	p.T1173P	ENST00000358984	36/36	184	92	92	129	129	0	strelka-varscan-mutect	ANKRD30B,missense_variant,p.Thr1173Pro,ENST00000358984,NM_001145029.1;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000320584,;	C	ENST00000358984	Transcript	missense_variant	3697/4359	3517/4179	1173/1392	T/P	Aca/Cca		1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1	deleterious(0)		36/36		Pfam_domain:PF14915,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	14851818	14851818	A	C	1	0	0	0	0	1	0	0	0	762	275	10	5		5	ANKRD30B	18	14851818	Missense_Mutation	SNP	A	C3L-00080_TP	110	14851818	65521467	679	2890			1	3		3	3	250	N	G_C_A	1.941411e-05
DSG3	0	.	GRCh38	chr18	31475662	31475662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagaaagcatttgcctgtgCggaggaagacgatggccagg	11	8	15	7	2	0	2	0	0	0	2	0	5	0	4	2	4	3	1	2	4	3	2	rs745351504		C3L-00080_TP	C3L-00080_NB	C	C																c.2402C>T	p.Ala801Val	p.A801V	ENST00000257189	16/16	241	228	13	107	106	1	strelka-varscan-mutect	DSG3,missense_variant,p.Ala801Val,ENST00000257189,NM_001944.2;	T	ENST00000257189	Transcript	missense_variant	2485/5525	2402/3000	801/999	A/V	gCg/gTg	rs745351504	1		1	DSG3	HGNC	HGNC:3050	protein_coding	YES	CCDS11898.1	ENSP00000257189	P32926		UPI000013CF4B	NM_001944.2	deleterious(0)		16/16		Gene3D:4.10.900.10,Prints_domain:PR01819,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF3																	MODERATE	1	SNV	1			1										PASS		rs745351504	.												T	3	4	7	31475662	31475662	C	T	1	0	0	0	0	1	0	0	0	4599	768	27	1		1	DSG3	18	31475662	Missense_Mutation	SNP	C	C3L-00080_TP	16623844	31475662	48897623	680	2891											
SETBP1	0	.	GRCh38	chr18	45063555	45063555	+	Frame_Shift_Del	DEL	G	G	-																															ctctacccaagaccccccgaGgcggaaagaggaaacacaaa																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.4649delG	p.Gly1550AlafsTer30	p.G1550Afs*30	ENST00000282030	6/6	394	36	358	33	33	0	sindel-varindel-pindel	SETBP1,frameshift_variant,p.Gly1550AlafsTer30,ENST00000282030,NM_015559.2;	-	ENST00000282030	Transcript	frameshift_variant	4944/9899	4648/4791	1550/1596	G/X	Ggc/gc		1		1	SETBP1	HGNC	HGNC:15573	protein_coding	YES	CCDS11923.2	ENSP00000282030	Q9Y6X0		UPI0000201C54	NM_015559.2			6/6																			HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	7	45063555	45063555	G	-	1	0	1	0	1	0	0	0	0	14406	1000	35	0		0	SETBP1	18	45063555	Frame_Shift_Del	DEL	G	C3L-00080_TP	13587893	45063555	35309730	681	2892											
LOXHD1	0	.	GRCh38	chr18	46533236	46533236	+	Frame_Shift_Del	DEL	T	T	-																															tgtatttctcagtgaagatgTcatatggaaccagttctcga																								novel		C3L-00080_TP	C3L-00080_NB	T	T																c.968delA	p.Asp323AlafsTer8	p.D323Afs*8	ENST00000300591	10/24	235	187	48	256	256	0	sindel-varindel-pindel	LOXHD1,frameshift_variant,p.Asp1434AlafsTer8,ENST00000536736,NM_144612.6;LOXHD1,frameshift_variant,p.Asp1228AlafsTer8,ENST00000441551,;LOXHD1,frameshift_variant,p.Asp323AlafsTer8,ENST00000300591,NM_001145472.2;LOXHD1,frameshift_variant,p.Asp323AlafsTer8,ENST00000582408,;LOXHD1,frameshift_variant,p.Asp227AlafsTer8,ENST00000579038,NM_001308013.1;LOXHD1,3_prime_UTR_variant,,ENST00000536111,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;	-	ENST00000300591	Transcript	frameshift_variant	1382/3970	968/3345	323/1114	D/X	gAc/gc		1		-1	LOXHD1	HGNC	HGNC:26521	protein_coding	YES	CCDS45861.1	ENSP00000300591	Q8IVV2		UPI0000456B8D	NM_001145472.2			10/24		hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF137																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	7	46533236	46533236	T	-	1	0	1	0	1	0	0	0	0	8801	1667	58	0		0	LOXHD1	18	46533236	Frame_Shift_Del	DEL	T	C3L-00080_TP	1469681	46533236	33840049	682	2893											
LOXHD1	0	.	GRCh38	chr18	46656913	46656913	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccgcacctctggcctTgtagtactcgtgttccagct	5	11	10	15	2	1	0	0	0	1	0	3	1	2	1	5	2	2	5	5	2	2	4	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.121A>T	p.Lys41Ter	p.K41*	ENST00000536736	1/40	88	69	19	110	110	0	strelka-varscan-mutect	LOXHD1,stop_gained,p.Lys41Ter,ENST00000536736,NM_144612.6;LOXHD1,stop_gained,p.Lys41Ter,ENST00000441551,;	A	ENST00000536736	Transcript	stop_gained	121/6848	121/6636	41/2211	K/*	Aag/Tag		1		-1	LOXHD1	HGNC	HGNC:26521	protein_coding			ENSP00000444586		F5GZB4	UPI0001A595CE	NM_144612.6			1/40		hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF137,Superfamily_domains:SSF49723																	HIGH	1	SNV	5			1										PASS		rs1309898946	.												A	4	1	7	46656913	46656913	T	A	1	0	0	0	0	0	1	0	0	8801	1821	63	4		4	LOXHD1	18	46656913	Nonsense_Mutation	SNP	T	C3L-00080_TP	123677	46656913	33716372	683	2894											
ZBTB7C	0	.	GRCh38	chr18	48040990	48040990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgatactcctgctcctgcaCcaccaggagcacgtcacaca	10	6	7	18	2	1	0	1	0	0	0	3	2	3	1	5	1	4	3	5	1	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.118G>T	p.Val40Leu	p.V40L	ENST00000588982	3/4	163	140	23	188	187	1	strelka-varscan-mutect	ZBTB7C,missense_variant,p.Val40Leu,ENST00000588982,;ZBTB7C,missense_variant,p.Val40Leu,ENST00000590800,;ZBTB7C,missense_variant,p.Val40Leu,ENST00000586438,;ZBTB7C,missense_variant,p.Val40Leu,ENST00000535628,NM_001039360.2;ZBTB7C,missense_variant,p.Val40Leu,ENST00000590437,;ZBTB7C,downstream_gene_variant,,ENST00000589170,;ZBTB7C,downstream_gene_variant,,ENST00000589194,;ZBTB7C,downstream_gene_variant,,ENST00000587107,;ZBTB7C,downstream_gene_variant,,ENST00000592656,;ZBTB7C,downstream_gene_variant,,ENST00000590374,;ZBTB7C,downstream_gene_variant,,ENST00000585404,;ZBTB7C,downstream_gene_variant,,ENST00000588970,;ZBTB7C,downstream_gene_variant,,ENST00000588053,;ZBTB7C,downstream_gene_variant,,ENST00000590178,;ZBTB7C,downstream_gene_variant,,ENST00000590855,;ZBTB7C,downstream_gene_variant,,ENST00000589619,;ZBTB7C,downstream_gene_variant,,ENST00000586743,;ZBTB7C,downstream_gene_variant,,ENST00000593159,;ZBTB7C,downstream_gene_variant,,ENST00000588028,;ZBTB7C,downstream_gene_variant,,ENST00000588149,;ZBTB7C,downstream_gene_variant,,ENST00000591526,;ZBTB7C,downstream_gene_variant,,ENST00000591279,;ZBTB7C,downstream_gene_variant,,ENST00000588566,;ZBTB7C,downstream_gene_variant,,ENST00000589077,;ZBTB7C,downstream_gene_variant,,ENST00000591405,;ZBTB7C,downstream_gene_variant,,ENST00000592387,;ZBTB7C,downstream_gene_variant,,ENST00000586525,;ZBTB7C,downstream_gene_variant,,ENST00000586047,;	A	ENST00000588982	Transcript	missense_variant	620/4949	118/1860	40/619	V/L	Gtg/Ttg		1		-1	ZBTB7C	HGNC	HGNC:31700	protein_coding	YES	CCDS32830.1	ENSP00000468782	A1YPR0	B2RG49	UPI0000073FE3		deleterious(0)		3/4		PROSITE_profiles:PS50097,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF250,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	48040990	48040990	C	A	1	0	0	0	0	1	0	0	0	18125	507	18	2		2	ZBTB7C	18	48040990	Missense_Mutation	SNP	C	C3L-00080_TP	1384077	48040990	32332295	684	2895											
ALPK2	0	.	GRCh38	chr18	58535575	58535575	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactagaaagaggtgaagTgggggaaatcaattctgctt	15	9	12	5	0	2	3	1	1	1	2	2	4	2	4	0	3	2	1	0	3	6	3	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.4612A>T	p.Thr1538Ser	p.T1538S	ENST00000361673	5/13	176	127	49	167	167	0	strelka-varscan-mutect	ALPK2,missense_variant,p.Thr1538Ser,ENST00000361673,NM_052947.3;RP11-1151B14.4,splice_region_variant,,ENST00000591360,;ALPK2,downstream_gene_variant,,ENST00000587842,;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;	A	ENST00000361673	Transcript	missense_variant	4826/7303	4612/6513	1538/2170	T/S	Act/Tct		1		-1	ALPK2	HGNC	HGNC:20565	protein_coding	YES	CCDS11966.2	ENSP00000354991	Q86TB3		UPI000022A768	NM_052947.3	tolerated(0.24)		5/13		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	58535575	58535575	T	A	1	0	0	0	0	1	0	0	0	645	1696	59	4		4	ALPK2	18	58535575	Missense_Mutation	SNP	T	C3L-00080_TP	10494585	58535575	21837710	685	2896											
CDH7	0	.	GRCh38	chr18	65822235	65822235	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcaacgataatccaccTcgctttcctcgaagtaagtt	11	12	7	11	3	1	0	1	0	0	0	5	3	3	0	3	0	1	3	3	0	4	4	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.780T>C	p.=	p.P260P	ENST00000397968	5/12	155	96	59	172	172	0	strelka-varscan-mutect	CDH7,synonymous_variant,p.=,ENST00000397968,NM_004361.2;CDH7,synonymous_variant,p.=,ENST00000536984,NM_001317214.1;CDH7,synonymous_variant,p.=,ENST00000323011,NM_033646.1;	C	ENST00000397968	Transcript	synonymous_variant	1206/12231	780/2358	260/785	P	ccT/ccC		1		1	CDH7	HGNC	HGNC:1766	protein_coding	YES	CCDS11993.1	ENSP00000381058	Q9ULB5		UPI000013D269	NM_004361.2			5/12		Gene3D:2.60.40.60,Prints_domain:PR00205,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	7	65822235	65822235	T	C	1	0	0	0	0	0	0	0	1	2818	1538	54	5		5	CDH7	18	65822235	Silent	SNP	T	C3L-00080_TP	7286660	65822235	14551050	686	2897											
DSEL	0	.	GRCh38	chr18	67514052	67514052	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgatgattatctaataagTtatataaaaagtcaaaggca	18	13	6	4	1	2	1	1	1	1	0	3	2	2	1	0	1	0	2	0	1	9	7	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.587A>T	p.Asn196Ile	p.N196I	ENST00000310045	2/2	126	83	43	148	148	0	strelka-varscan-mutect	DSEL,missense_variant,p.Asn196Ile,ENST00000310045,NM_032160.2;RP11-638L3.1,upstream_gene_variant,,ENST00000583687,;CTD-2541J13.2,downstream_gene_variant,,ENST00000583493,;CTD-2541J13.2,downstream_gene_variant,,ENST00000581951,;	A	ENST00000310045	Transcript	missense_variant	2061/9531	587/3669	196/1222	N/I	aAc/aTc		1		-1	DSEL	HGNC	HGNC:18144	protein_coding	YES	CCDS11995.1	ENSP00000310565	Q8IZU8		UPI00000740A1	NM_032160.2	tolerated(0.08)		2/2		hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	7	67514052	67514052	T	A	1	0	0	0	0	1	0	0	0	4596	1725	60	4		4	DSEL	18	67514052	Missense_Mutation	SNP	T	C3L-00080_TP	1691817	67514052	12859233	687	2898											
RTTN	0	.	GRCh38	chr18	70150650	70150650	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaatacagagatttcataCagaacttttggatgaagtag	16	11	8	6	0	1	3	1	1	0	2	1	5	1	4	1	1	3	1	1	1	6	6	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2013G>T	p.=	p.L671L	ENST00000255674	15/49	159	138	21	200	199	1	strelka-varscan-mutect	RTTN,synonymous_variant,p.=,ENST00000255674,NM_173630.3;RTTN,non_coding_transcript_exon_variant,,ENST00000584659,;RTTN,synonymous_variant,p.=,ENST00000583043,;RTTN,3_prime_UTR_variant,,ENST00000581161,NM_001318520.1;	A	ENST00000255674	Transcript	synonymous_variant	2300/7326	2013/6681	671/2226	L	ctG/ctT		1		-1	RTTN	HGNC	HGNC:18654	protein_coding	YES	CCDS42443.1	ENSP00000255674	Q86VV8		UPI0000201E92	NM_173630.3			15/49		hmmpanther:PTHR31691,hmmpanther:PTHR31691:SF1,Superfamily_domains:SSF48371																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	7	70150650	70150650	C	A	1	0	0	0	0	0	0	0	1	13998	465	17	2		2	RTTN	18	70150650	Silent	SNP	C	C3L-00080_TP	2636598	70150650	10222635	688	2899											
NETO1	0	.	GRCh38	chr18	72783743	72783743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccctcatctgcccacatgCggatcaccccaagacccgtg	8	7	8	18	2	3	1	2	0	1	1	3	2	3	2	5	1	3	0	5	1	1	0	rs370635787		C3L-00080_TP	C3L-00080_NB	C	C																c.803G>A	p.Arg268His	p.R268H	ENST00000327305	7/11	386	330	56	426	426	0	strelka-varscan-mutect	NETO1,missense_variant,p.Arg268His,ENST00000327305,NM_138966.3;NETO1,missense_variant,p.Arg268His,ENST00000583169,NM_001201465.1;NETO1,downstream_gene_variant,,ENST00000579730,;	T	ENST00000327305	Transcript	missense_variant	1461/3058	803/1602	268/533	R/H	cGc/cAc	rs370635787,COSM283212	1		-1	NETO1	HGNC	HGNC:13823	protein_coding	YES	CCDS12000.1	ENSP00000313088	Q8TDF5	A0A024R375	UPI000013E59E	NM_138966.3	deleterious(0)		7/11		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF315,SMART_domains:SM00042,Superfamily_domains:SSF49854											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs370635787	.												T	3	4	7	72783743	72783743	C	T	1	0	0	0	0	1	0	0	0	10374	768	27	1		1	NETO1	18	72783743	Missense_Mutation	SNP	C	C3L-00080_TP	2633093	72783743	7589542	689	2900											
CNDP1	0	.	GRCh38	chr18	74559336	74559336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctagacgctgaaggagtGggtggccatcgagagcgact	9	7	15	10	3	0	3	0	1	0	2	2	6	1	4	2	3	1	1	2	3	2	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.167G>T	p.Trp56Leu	p.W56L	ENST00000358821	3/12	456	390	66	455	455	0	strelka-varscan-mutect	CNDP1,missense_variant,p.Trp13Leu,ENST00000582365,;CNDP1,missense_variant,p.Trp56Leu,ENST00000358821,NM_032649.5;RP11-231E4.3,downstream_gene_variant,,ENST00000583702,;CNDP1,non_coding_transcript_exon_variant,,ENST00000585136,;CNDP1,upstream_gene_variant,,ENST00000584316,;	T	ENST00000358821	Transcript	missense_variant	395/2215	167/1524	56/507	W/L	tGg/tTg		1		1	CNDP1	HGNC	HGNC:20675	protein_coding	YES	CCDS12007.1	ENSP00000351682	Q96KN2		UPI00000463FC	NM_032649.5	tolerated(0.07)		3/12		Gene3D:3.40.630.10,PIRSF_domain:PIRSF037242,hmmpanther:PTHR11014,hmmpanther:PTHR11014:SF58,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	74559336	74559336	G	T	1	0	0	0	0	1	0	0	0	3372	1357	47	2		2	CNDP1	18	74559336	Missense_Mutation	SNP	G	C3L-00080_TP	1775593	74559336	5813949	690	2901											
ATP9B	0	.	GRCh38	chr18	79345573	79345573	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagacgcacctgcgccatcgGtgagagccgcccaccctgct	7	5	12	17	4	0	2	0	1	0	2	1	4	0	2	5	1	3	2	5	1	0	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.2617+1G>T		p.X873_splice	ENST00000426216		91	77	14	77	77	0	strelka-varscan-mutect	ATP9B,splice_donor_variant,,ENST00000426216,NM_198531.3;ATP9B,splice_donor_variant,,ENST00000307671,NM_001306085.1;ATP9B,intron_variant,,ENST00000458297,;RP11-800A18.4,upstream_gene_variant,,ENST00000592906,;ATP9B,splice_donor_variant,,ENST00000490210,;ATP9B,splice_donor_variant,,ENST00000590477,;ATP9B,splice_donor_variant,,ENST00000586774,;ATP9B,upstream_gene_variant,,ENST00000588921,;ATP9B,upstream_gene_variant,,ENST00000589951,;ATP9B,downstream_gene_variant,,ENST00000588895,;	T	ENST00000426216	Transcript	splice_donor_variant	-/4361	2617/3444	873/1147				1		1	ATP9B	HGNC	HGNC:13541	protein_coding	YES	CCDS12014.1	ENSP00000398076	O43861		UPI00002371AF	NM_198531.3				22/29																		HIGH		SNV	5			1										PASS		.	.												T	5	4	7	79345573	79345573	G	T	1	0	0	0	0	0	0	1	0	1352	1275	44	2		2	ATP9B	18	79345573	Splice_Site	SNP	G	C3L-00080_TP	4786237	79345573	1027712	691	2902											
NFATC1	0	.	GRCh38	chr18	79448875	79448875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccgcacgccttctaccagGtgcaccgcatcacagggaag	9	5	11	16	3	2	0	1	0	1	0	2	1	2	1	4	2	2	3	4	2	2	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1480G>T	p.Val494Leu	p.V494L	ENST00000427363	4/10	461	379	82	375	374	1	strelka-varscan-mutect	NFATC1,missense_variant,p.Val494Leu,ENST00000591814,NM_172390.2;NFATC1,missense_variant,p.Val494Leu,ENST00000253506,NM_006162.4;NFATC1,missense_variant,p.Val481Leu,ENST00000329101,NM_172387.2;NFATC1,missense_variant,p.Val481Leu,ENST00000318065,NM_172389.2;NFATC1,missense_variant,p.Val22Leu,ENST00000545796,NM_001278673.1;NFATC1,missense_variant,p.Val22Leu,ENST00000397790,NM_172388.2;NFATC1,missense_variant,p.Val494Leu,ENST00000427363,NM_001278669.1;NFATC1,missense_variant,p.Val481Leu,ENST00000592223,NM_001278675.1;NFATC1,missense_variant,p.Val494Leu,ENST00000587635,;NFATC1,missense_variant,p.Val494Leu,ENST00000542384,NM_001278670.1;NFATC1,missense_variant,p.Val481Leu,ENST00000586434,NM_001278672.1;NFATC1,non_coding_transcript_exon_variant,,ENST00000590224,;NFATC1,3_prime_UTR_variant,,ENST00000590313,;NFATC1,non_coding_transcript_exon_variant,,ENST00000591065,;NFATC1,upstream_gene_variant,,ENST00000591089,;	T	ENST00000427363	Transcript	missense_variant	1480/2832	1480/2832	494/943	V/L	Gtg/Ttg		1		1	NFATC1	HGNC	HGNC:7775	protein_coding	YES	CCDS62467.1	ENSP00000389377	O95644		UPI000012FFB5	NM_001278669.1	deleterious(0.03)		4/10		PROSITE_profiles:PS50254,hmmpanther:PTHR12533:SF5,hmmpanther:PTHR12533,Gene3D:2.60.40.340,Pfam_domain:PF00554,Superfamily_domains:SSF49417																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	79448875	79448875	G	T	1	0	0	0	0	1	0	0	0	10398	1261	44	2		2	NFATC1	18	79448875	Missense_Mutation	SNP	G	C3L-00080_TP	103302	79448875	924410	692	2903											
C2CD4C	0	.	GRCh38	chr19	407274	407274	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggcggcggctgttcttcAcgatggtgctgcgctgcttc	2	11	16	12	5	2	0	1	0	1	0	3	1	2	0	0	5	3	5	0	5	0	3	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.1088T>A	p.Val363Glu	p.V363E	ENST00000332235	2/2	134	69	65	167	167	0	strelka-varscan-mutect	C2CD4C,missense_variant,p.Val363Glu,ENST00000332235,NM_001136263.1;	T	ENST00000332235	Transcript	missense_variant	1293/3129	1088/1266	363/421	V/E	gTg/gAg		1		-1	C2CD4C	HGNC	HGNC:29417	protein_coding	YES	CCDS45890.1	ENSP00000328677	Q8TF44		UPI00001C2016	NM_001136263.1	deleterious(0)		2/2		PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF116,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	7	407274	407274	A	T	1	0	0	0	0	1	0	0	0	2028	159	6	4		4	C2CD4C	19	407274	Missense_Mutation	SNP	A	C3L-00080_TP		407274	58210342	693	2904											
ODF3L2	0	.	GRCh38	chr19	467742	467742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagaagtagatggggcccgGgctggtgtcctgaggtggtg	7	8	19	7	1	0	3	0	1	0	2	1	3	1	3	2	6	0	2	2	6	3	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.256C>A	p.Pro86Thr	p.P86T	ENST00000315489	3/4	82	38	44	91	91	0	strelka-varscan-mutect	ODF3L2,missense_variant,p.Pro86Thr,ENST00000315489,NM_182577.2;ODF3L2,missense_variant,p.Pro50Thr,ENST00000382696,;ODF3L2,non_coding_transcript_exon_variant,,ENST00000591681,;	T	ENST00000315489	Transcript	missense_variant	492/1604	256/870	86/289	P/T	Ccg/Acg		1		-1	ODF3L2	HGNC	HGNC:26841	protein_coding	YES	CCDS12027.1	ENSP00000318029	Q3SX64		UPI0000072898	NM_182577.2	deleterious(0)		3/4		Prints_domain:PR01217,hmmpanther:PTHR21580,hmmpanther:PTHR21580:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	467742	467742	G	T	1	0	0	0	0	1	0	0	0	10910	1232	43	2		2	ODF3L2	19	467742	Missense_Mutation	SNP	G	C3L-00080_TP	60468	467742	58149874	694	2905											
ABCA7	0	.	GRCh38	chr19	1047597	1047597	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaggtctctggccttctgCtgctggacgcggcgctctac	3	10	12	16	3	3	0	0	0	3	0	4	1	3	1	2	4	3	3	2	4	1	2			C3L-00080_TP	C3L-00080_NB	C	C																c.2212C>T	p.=	p.L738L	ENST00000263094	16/47	195	114	81	164	164	0	strelka-varscan-mutect	ABCA7,synonymous_variant,p.=,ENST00000263094,NM_019112.3;ABCA7,synonymous_variant,p.=,ENST00000433129,;ABCA7,synonymous_variant,p.=,ENST00000435683,;ABCA7,downstream_gene_variant,,ENST00000533574,;ABCA7,downstream_gene_variant,,ENST00000526885,;	T	ENST00000263094	Transcript	synonymous_variant	2443/6816	2212/6441	738/2146	L	Ctg/Ttg	COSM1398373	1		1	ABCA7	HGNC	HGNC:37	protein_coding	YES	CCDS12055.1	ENSP00000263094	Q8IZY2		UPI000013D3A4	NM_019112.3			16/47		Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49,Low_complexity_(Seg):seg											1						LOW	1	SNV	5		1	1										PASS		.	.												T	2	4	7	1047597	1047597	C	T	1	0	0	0	0	0	0	0	1	41	796	28	3		3	ABCA7	19	1047597	Silent	SNP	C	C3L-00080_TP	579855	1047597	57570019	695	2906											
DIRAS1	0	.	GRCh38	chr19	2717231	2717248	+	In_Frame_Del	DEL	CTTGACGCGGTCTGTCCT	CTTGACGCGGTCTGTCCT	-																															cacatgagggtgcatttgccCttgacgcggtctgtcctctt																								novel		C3L-00080_TP	C3L-00080_NB	CTTGACGCGGTCTGTCCT	CTTGACGCGGTCTGTCCT																c.559_576delAGGACAGACCGCGTCAAG	p.Arg187_Lys192del	p.R187_K192del	ENST00000323469	2/2	52	35	17	66	66	0	sindel-varindel-pindel	DIRAS1,inframe_deletion,p.Arg187_Lys192del,ENST00000323469,NM_145173.3;DIRAS1,inframe_deletion,p.Arg187_Lys192del,ENST00000585334,;DIRAS1,downstream_gene_variant,,ENST00000588128,;AC006538.4,downstream_gene_variant,,ENST00000586572,;	-	ENST00000323469	Transcript	inframe_deletion	743-760/3424	559-576/597	187-192/198	RTDRVK/-	AGGACAGACCGCGTCAAG/-		1		-1	DIRAS1	HGNC	HGNC:19127	protein_coding	YES	CCDS12092.1	ENSP00000325836	O95057		UPI000000D876	NM_145173.3			2/2		PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF213																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	7	2717231	2717231	CTTGACGCGGTCTGTCCT	-	1	0	1	0	1	0	0	0	0	4335	680	24	0		0	DIRAS1	19	2717231	In_Frame_Del	DEL	CTTGACGCGGTCTGTCCT	C3L-00080_TP	1669634	2717231	55900385	696	2907											
DOHH	0	.	GRCh38	chr19	3491581	3491581	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacatgtccagagccacctCgcagctctcacgcaccacgc	10	6	7	18	3	1	1	1	0	1	1	4	1	2	1	4	0	3	3	4	0	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.820G>T	p.Glu274Ter	p.E274*	ENST00000427575	5/5	420	236	184	423	420	3	strelka-varscan-mutect	DOHH,stop_gained,p.Glu274Ter,ENST00000427575,NM_001145165.1;DOHH,stop_gained,p.Glu274Ter,ENST00000250937,NM_031304.4;DOHH,downstream_gene_variant,,ENST00000592858,;DOHH,downstream_gene_variant,,ENST00000587122,;DOHH,non_coding_transcript_exon_variant,,ENST00000586906,;	A	ENST00000427575	Transcript	stop_gained	1272/2031	820/909	274/302	E/*	Gag/Tag		1		-1	DOHH	HGNC	HGNC:28662	protein_coding	YES	CCDS12108.1	ENSP00000398882	Q9BU89		UPI0000071C59	NM_001145165.1			5/5		HAMAP:MF_03101,hmmpanther:PTHR12697,Pfam_domain:PF13646,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	HIGH	1	SNV	3			1										PASS		rs1241296124	.												A	4	1	7	3491581	3491581	C	A	1	0	0	0	0	0	1	0	0	4510	893	31	1		1	DOHH	19	3491581	Nonsense_Mutation	SNP	C	C3L-00080_TP	774350	3491581	55126035	697	2908											
SAFB	0	.	GRCh38	chr19	5641909	5641909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagagctagtcgagggggAaatgaaagagcttccggagc	13	6	16	6	2	0	3	0	1	0	2	2	7	1	5	1	3	3	2	1	3	4	3	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.509A>G	p.Glu170Gly	p.E170G	ENST00000588852	4/21	245	184	61	270	270	0	strelka-varscan-mutect	SAFB,missense_variant,p.Glu170Gly,ENST00000292123,NM_001320572.1,NM_002967.3;SAFB,missense_variant,p.Glu170Gly,ENST00000592224,NM_001201339.1;SAFB,missense_variant,p.Glu170Gly,ENST00000588852,NM_001201338.1;SAFB,intron_variant,,ENST00000454510,NM_001201340.1;SAFB,non_coding_transcript_exon_variant,,ENST00000586934,;SAFB,non_coding_transcript_exon_variant,,ENST00000590485,;SAFB,intron_variant,,ENST00000589863,NM_001320571.1;SAFB,intron_variant,,ENST00000591666,;	G	ENST00000588852	Transcript	missense_variant	562/2842	509/2754	170/917	E/G	gAa/gGa		1		1	SAFB	HGNC	HGNC:10520	protein_coding	YES	CCDS59339.1	ENSP00000467423	Q15424		UPI0000E5BE82	NM_001201338.1	deleterious(0.01)		4/21		hmmpanther:PTHR15683:SF6,hmmpanther:PTHR15683																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	5641909	5641909	A	G	1	0	0	0	0	1	0	0	0	14065	246	9	5		5	SAFB	19	5641909	Missense_Mutation	SNP	A	C3L-00080_TP	2150328	5641909	52975707	698	2909											
CATSPERD	0	.	GRCh38	chr19	5751785	5751785	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgtgaatatccaggcgCttctcatggaccctgaactc	8	10	9	14	2	1	2	1	2	1	0	5	3	2	3	3	2	1	1	3	2	3	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1126C>A	p.Leu376Ile	p.L376I	ENST00000381624	12/22	121	58	63	112	112	0	strelka-varscan-mutect	CATSPERD,missense_variant,p.Leu376Ile,ENST00000381624,NM_152784.3;CATSPERD,upstream_gene_variant,,ENST00000309164,;	A	ENST00000381624	Transcript	missense_variant	1187/2516	1126/2397	376/798	L/I	Ctt/Att		1		1	CATSPERD	HGNC	HGNC:28598	protein_coding	YES	CCDS12149.2	ENSP00000371037	Q86XM0		UPI000059D641	NM_152784.3	tolerated(0.9)		12/22		Pfam_domain:PF15020,hmmpanther:PTHR33722,hmmpanther:PTHR33722:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	5751785	5751785	C	A	1	0	0	0	0	1	0	0	0	2392	797	28	2		2	CATSPERD	19	5751785	Missense_Mutation	SNP	C	C3L-00080_TP	109876	5751785	52865831	699	2910											
ZNF557	0	.	GRCh38	chr19	7083047	7083047	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttaccttgctgttcataAgagaatccacaatggggaga	13	11	9	8	0	2	2	1	0	1	2	3	4	3	2	2	2	2	2	2	2	4	4	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.596A>G	p.Lys199Arg	p.K199R	ENST00000252840	8/8	131	63	68	146	145	1	strelka-varscan-mutect	ZNF557,missense_variant,p.Lys192Arg,ENST00000414706,NM_001044388.1;ZNF557,missense_variant,p.Lys199Arg,ENST00000252840,NM_024341.2,NM_001044387.1;	G	ENST00000252840	Transcript	missense_variant	1097/2268	596/1293	199/430	K/R	aAg/aGg		1		1	ZNF557	HGNC	HGNC:28632	protein_coding	YES	CCDS42485.1	ENSP00000252840	Q8N988		UPI000020324B	NM_024341.2,NM_001044387.1	tolerated(0.06)		8/8		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF145,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	7083047	7083047	A	G	1	0	0	0	0	1	0	0	0	18562	72	3	5		5	ZNF557	19	7083047	Missense_Mutation	SNP	A	C3L-00080_TP	1331262	7083047	51534569	700	2911											
ZNF699	0	.	GRCh38	chr19	9297425	9297425	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttcattggatattttttctCcacaaatatcttgtgaagca	11	17	6	7	0	3	1	1	1	2	0	4	2	3	2	1	1	1	2	1	1	4	8	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.341G>C	p.Gly114Ala	p.G114A	ENST00000591998	5/6	84	64	20	143	143	0	strelka-varscan-mutect	ZNF699,missense_variant,p.Gly114Ala,ENST00000591998,;ZNF699,missense_variant,p.Gly114Ala,ENST00000308650,NM_198535.1;CTC-325H20.4,downstream_gene_variant,,ENST00000591336,;	G	ENST00000591998	Transcript	missense_variant	570/3358	341/1929	114/642	G/A	gGa/gCa		1		-1	ZNF699	HGNC	HGNC:24750	protein_coding	YES	CCDS42495.1	ENSP00000467723	Q32M78		UPI00001D825F		tolerated(0.11)		5/6		hmmpanther:PTHR24377:SF132,hmmpanther:PTHR24377																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	7	9297425	9297425	C	G	1	0	0	0	0	1	0	0	0	18674	855	30	4		4	ZNF699	19	9297425	Missense_Mutation	SNP	C	C3L-00080_TP	2214378	9297425	49320191	701	2912											
OLFM2	0	.	GRCh38	chr19	9857342	9857342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatacccgtaggcaccCatctcctcctgaatggccgc	7	9	7	18	2	2	1	1	1	1	0	5	1	4	1	6	2	1	2	6	2	3	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.501G>A	p.Met167Ile	p.M167I	ENST00000264833	4/6	328	186	142	343	342	1	strelka-varscan-mutect	OLFM2,missense_variant,p.Met167Ile,ENST00000264833,NM_058164.3;OLFM2,missense_variant,p.Met89Ile,ENST00000590841,NM_001304348.1;OLFM2,missense_variant,p.Met191Ile,ENST00000593091,NM_001304347.1;OLFM2,non_coding_transcript_exon_variant,,ENST00000590410,;OLFM2,intron_variant,,ENST00000592448,;	T	ENST00000264833	Transcript	missense_variant	687/2019	501/1365	167/454	M/I	atG/atA		1		-1	OLFM2	HGNC	HGNC:17189	protein_coding	YES	CCDS12221.1	ENSP00000264833	O95897		UPI000013D57B	NM_058164.3	tolerated(1)		4/6		hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF27																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	9857342	9857342	C	T	1	0	0	0	0	1	0	0	0	10928	594	21	3		3	OLFM2	19	9857342	Missense_Mutation	SNP	C	C3L-00080_TP	559917	9857342	48760274	702	2913											
COL5A3	0	.	GRCh38	chr19	9977282	9977282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccgggggcacccacatcccCctgcagaggaaatgggatga	10	5	13	13	1	0	2	0	1	0	1	2	4	2	4	4	4	1	2	4	4	1	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.3235G>A	p.Gly1079Arg	p.G1079R	ENST00000264828	44/67	179	96	83	172	172	0	strelka-varscan-mutect	COL5A3,missense_variant,p.Gly1079Arg,ENST00000264828,NM_015719.3;	T	ENST00000264828	Transcript	missense_variant,splice_region_variant	3321/6174	3235/5238	1079/1745	G/R	Ggg/Agg		1		-1	COL5A3	HGNC	HGNC:14864	protein_coding	YES	CCDS12222.1	ENSP00000264828	P25940		UPI00002032A3	NM_015719.3	deleterious(0)		44/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF516																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	9977282	9977282	C	T	1	0	0	0	0	1	0	0	0	3487	637	22	3		3	COL5A3	19	9977282	Missense_Mutation	SNP	C	C3L-00080_TP	119940	9977282	48640334	703	2914											
RDH8	0	.	GRCh38	chr19	10021591	10021591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccgacagaccaacatcCgctactcgccgctgaccacg	9	5	9	18	6	0	2	0	1	0	1	2	3	1	2	5	0	3	2	5	0	2	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.838C>T	p.Arg280Cys	p.R280C	ENST00000591589	6/6	266	224	42	306	306	0	strelka-mutect	RDH8,missense_variant,p.Arg280Cys,ENST00000591589,NM_015725.2;RDH8,synonymous_variant,p.=,ENST00000587782,;RDH8,downstream_gene_variant,,ENST00000589570,;	T	ENST00000591589	Transcript	missense_variant	1027/1715	838/996	280/331	R/C	Cgc/Tgc		1		1	RDH8	HGNC	HGNC:14423	protein_coding	YES	CCDS12223.2	ENSP00000466058		K7ELF7	UPI000059D661	NM_015725.2	tolerated(0.18)		6/6		PIRSF_domain:PIRSF000095																	MODERATE	1	SNV	1			1										PASS		rs1330743396	.												T	3	4	7	10021591	10021591	C	T	1	0	0	0	0	1	0	0	0	13365	652	23	1		1	RDH8	19	10021591	Missense_Mutation	SNP	C	C3L-00080_TP	44309	10021591	48596025	704	2915											
KANK2	0	.	GRCh38	chr19	11176641	11176641	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtatgtgctgagattctCgagacagctgacactcctgc	8	11	12	10	1	1	3	0	2	1	2	3	5	2	3	1	1	3	3	1	1	1	2	rs111233026		C3L-00080_TP	C3L-00080_NB	C	C																c.1721G>T	p.Arg574Leu	p.R574L	ENST00000589359	7/13	126	102	24	109	108	1	strelka-varscan-mutect	KANK2,missense_variant,p.Arg566Leu,ENST00000586659,NM_001136191.2;KANK2,missense_variant,p.Arg574Leu,ENST00000589359,NM_015493.6;KANK2,missense_variant,p.Arg566Leu,ENST00000589894,;KANK2,upstream_gene_variant,,ENST00000588787,;	A	ENST00000589359	Transcript	missense_variant	2189/3048	1721/2580	574/859	R/L	cGa/cTa	rs111233026	1		-1	KANK2	HGNC	HGNC:29300	protein_coding	YES	CCDS54219.1	ENSP00000468002	Q63ZY3		UPI00003B5C5D	NM_015493.6	tolerated(0.33)		7/13		hmmpanther:PTHR24168:SF0,hmmpanther:PTHR24168																	MODERATE	1	SNV	5			1										PASS		rs111233026	.												A	3	1	7	11176641	11176641	C	A	1	0	0	0	0	1	0	0	0	7886	884	31	1		1	KANK2	19	11176641	Missense_Mutation	SNP	C	C3L-00080_TP	1155050	11176641	47440975	705	2916											
OR1I1	0	.	GRCh38	chr19	15087500	15087500	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctgtgggctgctgctGggagcatcatggatgatcac	6	11	14	10	0	3	1	2	1	1	0	3	3	3	3	1	3	3	4	1	3	0	0	rs774024174		C3L-00080_TP	C3L-00080_NB	G	G																c.435G>T	p.=	p.L145L	ENST00000209540	1/1	203	103	100	253	253	0	strelka-varscan-mutect	OR1I1,synonymous_variant,p.=,ENST00000209540,NM_001004713.1;	T	ENST00000209540	Transcript	synonymous_variant	521/1242	435/1068	145/355	L	ctG/ctT	rs774024174	1		1	OR1I1	HGNC	HGNC:8207	protein_coding	YES	CCDS32937.1	ENSP00000209540	O60431		UPI0000130B3E	NM_001004713.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF304,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs774024174	.												T	2	4	7	15087500	15087500	G	T	1	0	0	0	0	0	0	0	1	11036	1335	47	2		2	OR1I1	19	15087500	Silent	SNP	G	C3L-00080_TP	3910859	15087500	43530116	706	2917											
WIZ	0	.	GRCh38	chr19	15425563	15425563	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggccaggtctccagcCggtggctccttcttgatgag	5	9	15	12	1	2	2	0	2	2	0	4	2	3	2	4	5	1	2	4	5	0	2	rs779118906		C3L-00080_TP	C3L-00080_NB	C	C																c.1287G>T	p.=	p.P429P	ENST00000263381	5/8	134	77	57	132	132	0	strelka-varscan-mutect	WIZ,synonymous_variant,p.=,ENST00000263381,NM_021241.2;WIZ,synonymous_variant,p.=,ENST00000599910,;WIZ,synonymous_variant,p.=,ENST00000545156,;WIZ,synonymous_variant,p.=,ENST00000389282,;WIZ,synonymous_variant,p.=,ENST00000599686,;WIZ,upstream_gene_variant,,ENST00000600632,;	A	ENST00000263381	Transcript	synonymous_variant	1501/5695	1287/2385	429/794	P	ccG/ccT	rs779118906	1		-1	WIZ	HGNC	HGNC:30917	protein_coding	YES	CCDS42516.1	ENSP00000263381	O95785		UPI000041F888	NM_021241.2			5/8		hmmpanther:PTHR24396:SF20,hmmpanther:PTHR24396																	LOW	1	SNV	2			1										PASS		rs779118906	.												A	2	1	7	15425563	15425563	C	A	1	0	0	0	0	0	0	0	1	17931	639	23	1		1	WIZ	19	15425563	Silent	SNP	C	C3L-00080_TP	338063	15425563	43192053	707	2918											
KCNN1	0	.	GRCh38	chr19	17981726	17981726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgttcatggtggacaaCggggctgatgactggcgcat	8	9	15	9	2	1	2	1	2	0	0	1	3	1	3	0	5	2	4	0	5	1	1	rs376771442		C3L-00080_TP	C3L-00080_NB	C	C																c.516C>A	p.Asn172Lys	p.N172K	ENST00000222249	5/11	32	20	12	17	17	0	varscan-mutect	KCNN1,missense_variant,p.Asn172Lys,ENST00000222249,NM_002248.4;KCNN1,missense_variant,p.Asn172Lys,ENST00000615435,;	A	ENST00000222249	Transcript	missense_variant	835/3625	516/1632	172/543	N/K	aaC/aaA	rs376771442	1		1	KCNN1	HGNC	HGNC:6290	protein_coding	YES	CCDS67611.1	ENSP00000476519	Q92952		UPI00001649F9	NM_002248.4	deleterious(0.01)		5/11		hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF38,Pfam_domain:PF03530,Gene3D:1.10.287.70																	MODERATE	1	SNV	1			1										PASS		rs376771442	.												A	3	1	7	17981726	17981726	C	A	1	0	0	0	0	1	0	0	0	7994	535	19	1		1	KCNN1	19	17981726	Missense_Mutation	SNP	C	C3L-00080_TP	2556163	17981726	40635890	708	2919											
ZNF100	0	.	GRCh38	chr19	21727168	21727168	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtatgagaatcggtaaaAagctttgccacattcttcac	14	11	8	8	1	2	1	1	1	1	1	3	2	2	1	1	2	2	3	1	2	6	5	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.1144T>G	p.Phe382Val	p.F382V	ENST00000358296	5/5	222	177	45	247	246	1	strelka-varscan-mutect	ZNF100,missense_variant,p.Phe382Val,ENST00000358296,NM_173531.3;ZNF100,missense_variant,p.Phe318Val,ENST00000305570,;ZNF100,missense_variant,p.Phe381Val,ENST00000608416,;ZNF100,downstream_gene_variant,,ENST00000594401,;	C	ENST00000358296	Transcript	missense_variant	1343/5745	1144/1629	382/542	F/V	Ttt/Gtt		1		-1	ZNF100	HGNC	HGNC:12880	protein_coding	YES	CCDS42538.1	ENSP00000351042	Q8IYN0		UPI00001614AC	NM_173531.3	deleterious(0)		5/5		Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF131,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	21727168	21727168	A	C	1	0	0	0	0	1	0	0	0	18292	14	1	5		5	ZNF100	19	21727168	Missense_Mutation	SNP	A	C3L-00080_TP	3745442	21727168	36890448	709	2920											
ZNF208	0	.	GRCh38	chr19	21974779	21974779	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctatgccctgctctggccaAagatcttgagcaaaatgaga	12	10	9	10	0	3	3	0	2	3	2	3	4	3	3	2	1	3	2	2	1	4	2	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.255T>A	p.=	p.L85L	ENST00000397126	4/4	24	16	8	41	41	0	strelka-varscan-mutect	ZNF208,synonymous_variant,p.=,ENST00000397126,NM_007153.3;ZNF208,synonymous_variant,p.=,ENST00000609966,;ZNF208,synonymous_variant,p.=,ENST00000599916,;ZNF208,intron_variant,,ENST00000601773,;	T	ENST00000397126	Transcript	synonymous_variant	404/3992	255/3843	85/1280	L	ctT/ctA		1		-1	ZNF208	HGNC	HGNC:12999	protein_coding	YES	CCDS54240.1	ENSP00000380315	O43345		UPI0001B23C28	NM_007153.3			4/4		hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103																	LOW	1	SNV	3			1										PASS		.	.												T	2	4	7	21974779	21974779	A	T	1	0	0	0	0	0	0	0	1	18343	1	1	4		4	ZNF208	19	21974779	Silent	SNP	A	C3L-00080_TP	247611	21974779	36642837	710	2921											
ZNF728	0	.	GRCh38	chr19	22975539	22975539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtgaggattggttgaagtCtttaccacattcttcacatt	9	16	9	7	0	3	2	1	2	2	0	3	3	3	3	1	2	1	1	1	2	2	7	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1798G>C	p.Asp600His	p.D600H	ENST00000594710	4/4	32	24	8	48	48	0	strelka-varscan-mutect	ZNF728,missense_variant,p.Asp600His,ENST00000594710,NM_001267716.1;ZNF728,downstream_gene_variant,,ENST00000599851,;	G	ENST00000594710	Transcript	missense_variant	1944/2015	1798/1869	600/622	D/H	Gac/Cac		1		-1	ZNF728	HGNC	HGNC:32463	protein_coding	YES	CCDS59370.1	ENSP00000471593	P0DKX0		UPI0002656E4B	NM_001267716.1	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF239,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		.	.												G	3	3	7	22975539	22975539	C	G	1	0	0	0	0	1	0	0	0	18702	913	32	4		4	ZNF728	19	22975539	Missense_Mutation	SNP	C	C3L-00080_TP	1000760	22975539	35642077	711	2922											
ZNF536	0	.	GRCh38	chr19	30549271	30549271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggcacctcccagcccGtccagggactggtctcacct	7	6	9	19	1	1	0	1	0	1	0	4	1	3	1	6	3	1	1	6	3	0	0	rs138308449		C3L-00080_TP	C3L-00080_NB	G	G																c.3652G>A	p.Val1218Ile	p.V1218I	ENST00000355537	4/5	188	77	111	166	166	0	strelka-varscan-mutect	ZNF536,missense_variant,p.Val1218Ile,ENST00000355537,NM_014717.1;ZNF536,downstream_gene_variant,,ENST00000585628,;ZNF536,upstream_gene_variant,,ENST00000592773,;CTD-2001J20.1,upstream_gene_variant,,ENST00000623331,;	A	ENST00000355537	Transcript	missense_variant	3799/4945	3652/3903	1218/1300	V/I	Gtc/Atc	rs138308449	1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	tolerated_low_confidence(0.39)		4/5																			MODERATE	1	SNV	1			1										PASS		rs138308449	.												A	3	1	7	30549271	30549271	G	A	1	0	0	0	0	1	0	0	0	18547	1145	40	1		1	ZNF536	19	30549271	Missense_Mutation	SNP	G	C3L-00080_TP	7573732	30549271	28068345	712	2923											
TSHZ3	0	.	GRCh38	chr19	31277953	31277953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctcagtgacctttttcaCcagctcctccatggcatgaa	8	14	6	13	0	2	2	2	2	1	0	5	2	4	2	4	1	1	2	4	1	1	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1840G>T	p.Val614Leu	p.V614L	ENST00000240587	2/2	90	47	43	102	102	0	strelka-varscan-mutect	TSHZ3,missense_variant,p.Val614Leu,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;	A	ENST00000240587	Transcript	missense_variant	2168/5176	1840/3246	614/1081	V/L	Gtg/Ttg		1		-1	TSHZ3	HGNC	HGNC:30700	protein_coding	YES	CCDS12421.2	ENSP00000240587	Q63HK5		UPI0000202000	NM_020856.2	deleterious(0.02)		2/2		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	31277953	31277953	C	A	1	0	0	0	0	1	0	0	0	17130	507	18	2		2	TSHZ3	19	31277953	Missense_Mutation	SNP	C	C3L-00080_TP	728682	31277953	27339663	713	2924											
FFAR1	0	.	GRCh38	chr19	35351798	35351798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgctgtgccccgtcttcGcggtggcccacttcttccca	2	11	9	19	4	2	0	0	0	2	0	5	0	3	0	5	2	1	1	5	2	0	3	rs768158175		C3L-00080_TP	C3L-00080_NB	G	G																c.247G>A	p.Ala83Thr	p.A83T	ENST00000246553	1/1	212	165	47	185	185	0	strelka-varscan-mutect	FFAR1,missense_variant,p.Ala83Thr,ENST00000246553,NM_005303.2;CD22,downstream_gene_variant,,ENST00000085219,NM_001771.3;CD22,downstream_gene_variant,,ENST00000536635,NM_001185099.1;CD22,downstream_gene_variant,,ENST00000341773,NM_001185101.1;CD22,downstream_gene_variant,,ENST00000544992,NM_001185100.1;CD22,downstream_gene_variant,,ENST00000419549,NM_001278417.1;CD22,downstream_gene_variant,,ENST00000601769,;	A	ENST00000246553	Transcript	missense_variant	247/2311	247/903	83/300	A/T	Gcg/Acg	rs768158175	1		1	FFAR1	HGNC	HGNC:4498	protein_coding	YES	CCDS12458.1	ENSP00000246553	O14842		UPI000005045B	NM_005303.2	tolerated(0.46)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01905,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF33,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		rs768158175	.												A	3	1	7	35351798	35351798	G	A	1	0	0	0	0	1	0	0	0	5690	1087	38	1		1	FFAR1	19	35351798	Missense_Mutation	SNP	G	C3L-00080_TP	4073845	35351798	23265818	714	2925											
ZFP82	0	.	GRCh38	chr19	36393549	36393549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtaagttgtcctcgtaccCtaaaagccttcccacattct	10	12	6	13	1	1	0	0	0	1	0	4	1	3	0	4	0	2	3	4	0	4	6	rs763398603		C3L-00080_TP	C3L-00080_NB	C	C																c.791G>C	p.Arg264Thr	p.R264T	ENST00000392161	5/5	236	110	126	253	253	0	strelka-varscan-mutect	ZFP82,missense_variant,p.Arg264Thr,ENST00000392161,NM_133466.2;ZFP82,intron_variant,,ENST00000445543,;ZFP82,non_coding_transcript_exon_variant,,ENST00000590993,;	G	ENST00000392161	Transcript	missense_variant	1034/2623	791/1599	264/532	R/T	aGg/aCg	rs763398603	1		-1	ZFP82	HGNC	HGNC:28682	protein_coding	YES	CCDS12493.1	ENSP00000431265	Q8N141	D3Y299	UPI0000071159	NM_133466.2	tolerated(0.3)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF252,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs763398603	.												G	3	3	7	36393549	36393549	C	G	1	0	0	0	0	1	0	0	0	18230	681	24	4		4	ZFP82	19	36393549	Missense_Mutation	SNP	C	C3L-00080_TP	1041751	36393549	22224067	715	2926											
ZNF850	0	.	GRCh38	chr19	36749766	36749766	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaaaagattttccacatTctttacaatcatagggtttc	13	15	5	8	0	2	1	1	0	1	1	4	1	3	1	1	1	1	2	1	1	5	8	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.1274A>T	p.Glu425Val	p.E425V	ENST00000591344	5/5	269	177	92	246	246	0	strelka-varscan-mutect	ZNF850,missense_variant,p.Glu425Val,ENST00000591344,NM_001193552.1;ZNF850,missense_variant,p.Glu393Val,ENST00000614887,NM_001267779.1;ZNF850,intron_variant,,ENST00000589390,;	A	ENST00000591344	Transcript	missense_variant	1433/7714	1274/3273	425/1090	E/V	gAa/gTa		1		-1	ZNF850	HGNC	HGNC:27994	protein_coding	YES	CCDS59379.1	ENSP00000464976	A8MQ14		UPI00001D815D	NM_001193552.1	tolerated(0.06)		5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF167,SMART_domains:SM00355																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	36749766	36749766	T	A	1	0	0	0	0	1	0	0	0	18782	1783	62	4		4	ZNF850	19	36749766	Missense_Mutation	SNP	T	C3L-00080_TP	356217	36749766	21867850	716	2927											
LGALS16	0	.	GRCh38	chr19	39658583	39658583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcgtgagtttgggatatgGatgttggaggagaatttaca	11	13	15	2	1	0	2	0	1	0	1	1	6	0	5	0	4	1	2	0	4	3	5	rs762301779		C3L-00080_TP	C3L-00080_NB	G	G																c.216G>T	p.Trp72Cys	p.W72C	ENST00000392051	3/4	464	217	247	437	437	0	strelka-varscan-mutect	LGALS16,missense_variant,p.Trp72Cys,ENST00000392051,NM_001190441.2;LGALS16,3_prime_UTR_variant,,ENST00000594480,;	T	ENST00000392051	Transcript	missense_variant	284/624	216/429	72/142	W/C	tgG/tgT	rs762301779	1		1	LGALS16	HGNC	HGNC:40039	protein_coding	YES	CCDS54267.1	ENSP00000375904	A8MUM7		UPI00006C1A40	NM_001190441.2	deleterious(0.03)		3/4		PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF77,Pfam_domain:PF00337,Gene3D:2.60.120.200,SMART_domains:SM00276,SMART_domains:SM00908,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs762301779	.												T	3	4	7	39658583	39658583	G	T	1	0	0	0	0	1	0	0	0	8649	1183	41	2		2	LGALS16	19	39658583	Missense_Mutation	SNP	G	C3L-00080_TP	2908817	39658583	18959033	717	2928											
CEACAM8	0	.	GRCh38	chr19	42589019	42589019	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggtgtctgaaggggaaatGgtgggggcatctgggccatc	8	9	18	6	0	2	1	0	1	2	0	3	2	2	2	1	7	0	1	1	7	3	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.723C>A	p.=	p.T241T	ENST00000244336	4/6	120	57	63	95	95	0	strelka-varscan-mutect	CEACAM8,synonymous_variant,p.=,ENST00000244336,NM_001816.3;CEACAM8,intron_variant,,ENST00000599005,;LIPE-AS1,intron_variant,,ENST00000594688,;LIPE-AS1,intron_variant,,ENST00000594624,;	T	ENST00000244336	Transcript	synonymous_variant	825/2305	723/1050	241/349	T	acC/acA		1		-1	CEACAM8	HGNC	HGNC:1820	protein_coding	YES	CCDS12610.1	ENSP00000244336	P31997	Q0Z7S6	UPI00000012A3	NM_001816.3			4/6		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF615,hmmpanther:PTHR10489,Pfam_domain:PF13895,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	42589019	42589019	G	T	1	0	0	0	0	0	0	0	1	2904	1335	47	2		2	CEACAM8	19	42589019	Silent	SNP	G	C3L-00080_TP	2930436	42589019	16028597	718	2929											
ZNF404	0	.	GRCh38	chr19	43873572	43873572	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcattgcttacattcataGggtttcataccagtatgaat	11	14	7	9	1	2	1	2	1	0	0	2	1	2	1	2	1	3	4	2	1	5	7	rs775057171		C3L-00080_TP	C3L-00080_NB	G	G																c.642C>A	p.=	p.P214P	ENST00000587539	3/3	97	61	36	108	108	0	strelka-varscan-mutect	ZNF404,synonymous_variant,p.=,ENST00000587539,NM_001033719.2;ZNF404,synonymous_variant,p.=,ENST00000324394,;	T	ENST00000587539	Transcript	synonymous_variant	642/1851	642/1659	214/552	P	ccC/ccA	rs775057171	1		-1	ZNF404	HGNC	HGNC:19417	protein_coding	YES	CCDS59394.1	ENSP00000466051	Q494X3		UPI00001D8172	NM_001033719.2			3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF53,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	LOW	1	SNV	5			1										PASS		rs775057171	.												T	2	4	7	43873572	43873572	G	T	1	0	0	0	0	0	0	0	1	18458	987	35	2		2	ZNF404	19	43873572	Silent	SNP	G	C3L-00080_TP	1284553	43873572	14744044	719	2930											
ZNF229	0	.	GRCh38	chr19	44429377	44429377	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagctgcagctgaatccCtttccacactcgccacagct	8	9	9	15	1	0	1	0	1	0	0	3	2	2	2	3	1	4	4	3	1	1	1			C3L-00080_TP	C3L-00080_NB	C	C																c.1404G>T	p.Lys468Asn	p.K468N	ENST00000614049	6/6	370	339	31	274	273	1	strelka-varscan-mutect	ZNF229,missense_variant,p.Lys462Asn,ENST00000613197,NM_001278510.2;ZNF229,missense_variant,p.Lys468Asn,ENST00000614049,NM_014518.3;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000620012,;	A	ENST00000614049	Transcript	missense_variant	1838/4507	1404/2478	468/825	K/N	aaG/aaT	COSM3535579	1		-1	ZNF229	HGNC	HGNC:13022	protein_coding	YES	CCDS42574.1	ENSP00000479884	Q9UJW7		UPI0001747B51	NM_014518.3	tolerated(0.17)		6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF348,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	7	44429377	44429377	C	A	1	0	0	0	0	1	0	0	0	18359	680	24	2		2	ZNF229	19	44429377	Missense_Mutation	SNP	C	C3L-00080_TP	555805	44429377	14188239	720	2931											
DACT3	0	.	GRCh38	chr19	46652710	46652710	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccccggggctcagagggaCccaggcgaccataggagctg	8	4	16	13	2	1	1	1	0	0	1	1	4	1	3	4	5	2	2	4	5	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.449G>C	p.Gly150Ala	p.G150A	ENST00000391916	3/4	331	285	46	216	216	0	strelka-varscan-mutect	DACT3,missense_variant,p.Gly150Ala,ENST00000410105,;DACT3,missense_variant,p.Gly150Ala,ENST00000391916,NM_145056.2;DACT3,5_prime_UTR_variant,,ENST00000300875,NM_001301046.1;	G	ENST00000391916	Transcript	missense_variant	523/2834	449/1890	150/629	G/A	gGt/gCt		1		-1	DACT3	HGNC	HGNC:30745	protein_coding	YES	CCDS12688.2	ENSP00000375783	Q96B18		UPI0000202707	NM_145056.2	deleterious(0.02)		3/4		hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	7	46652710	46652710	C	G	1	0	0	0	0	1	0	0	0	4025	507	18	4		4	DACT3	19	46652710	Missense_Mutation	SNP	C	C3L-00080_TP	2223333	46652710	11964906	721	2932											
DHX34	0	.	GRCh38	chr19	47353648	47353648	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgctggcttcagtcaTgtggcgtgcacccagccccg	4	9	13	15	2	2	0	2	0	0	0	2	0	2	0	3	3	3	4	3	3	0	1	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.618T>G	p.His206Gln	p.H206Q	ENST00000328771	2/17	187	113	74	132	132	0	strelka-varscan-mutect	DHX34,missense_variant,p.His206Gln,ENST00000328771,NM_014681.5;DHX34,upstream_gene_variant,,ENST00000471451,;	G	ENST00000328771	Transcript	missense_variant	967/4372	618/3432	206/1143	H/Q	caT/caG		1		1	DHX34	HGNC	HGNC:16719	protein_coding	YES	CCDS12700.1	ENSP00000331907	Q14147		UPI0000202759	NM_014681.5	tolerated(0.15)		2/17		PROSITE_profiles:PS51192,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF148,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		rs1448704373	.												G	3	3	7	47353648	47353648	T	G	1	0	0	0	0	1	0	0	0	4311	1461	51	5		5	DHX34	19	47353648	Missense_Mutation	SNP	T	C3L-00080_TP	700938	47353648	11263968	722	2933											
ZNF541	0	.	GRCh38	chr19	47521880	47521880	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctctgtcctttccacttcctCcggctctctcttgaccctct	2	16	4	19	1	4	1	0	1	4	0	9	1	8	1	5	1	0	1	5	1	0	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.3685G>C	p.Glu1229Gln	p.E1229Q	ENST00000391901	13/15	172	94	78	120	120	0	strelka-varscan-mutect	ZNF541,missense_variant,p.Glu1248Gln,ENST00000314121,;ZNF541,missense_variant,p.Glu1229Gln,ENST00000391901,NM_001277075.1;ZNF541,missense_variant,p.Glu749Gln,ENST00000595558,;ZNF541,missense_variant,p.Glu562Gln,ENST00000263351,;	G	ENST00000391901	Transcript	missense_variant	3685/4580	3685/4041	1229/1346	E/Q	Gag/Cag		1		-1	ZNF541	HGNC	HGNC:25294	protein_coding	YES	CCDS46133.2	ENSP00000375770	Q9H0D2		UPI0000E5A21D	NM_001277075.1	tolerated(0.06)		13/15		hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF23,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	7	47521880	47521880	C	G	1	0	0	0	0	1	0	0	0	18549	864	30	4		4	ZNF541	19	47521880	Missense_Mutation	SNP	C	C3L-00080_TP	168232	47521880	11095736	723	2934											
GRIN2D	0	.	GRCh38	chr19	48442250	48442250	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcgacaacatggcgggCgtcttctacatgctcctggt	8	10	11	12	3	2	0	0	0	2	0	4	2	3	0	1	3	3	1	1	3	2	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2541C>T	p.=	p.G847G	ENST00000263269	12/13	450	401	49	297	297	0	strelka-varscan-mutect	GRIN2D,synonymous_variant,p.=,ENST00000263269,NM_000836.2;GRWD1,upstream_gene_variant,,ENST00000253237,NM_031485.3;GRWD1,upstream_gene_variant,,ENST00000598711,;GRWD1,upstream_gene_variant,,ENST00000599949,;	T	ENST00000263269	Transcript	synonymous_variant	2629/5093	2541/4011	847/1336	G	ggC/ggT		1		1	GRIN2D	HGNC	HGNC:4588	protein_coding	YES	CCDS12719.1	ENSP00000263269	O15399		UPI000013D3DA	NM_000836.2			12/13		Pfam_domain:PF00060,Prints_domain:PR00177,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF105,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs1239668404	.												T	2	4	7	48442250	48442250	C	T	1	0	0	0	0	0	0	0	1	6664	755	27	1		1	GRIN2D	19	48442250	Silent	SNP	C	C3L-00080_TP	920370	48442250	10175366	724	2935											
SHANK1	0	.	GRCh38	chr19	50702567	50702567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtaccgctgagtagagCttcctccgcctcccgcggct	4	8	12	17	5	0	2	0	1	0	1	3	2	3	2	6	2	2	5	6	2	2	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1647G>T	p.Lys549Asn	p.K549N	ENST00000293441	11/23	270	189	81	251	251	0	strelka-varscan-mutect	SHANK1,missense_variant,p.Lys549Asn,ENST00000293441,NM_016148.2;SHANK1,missense_variant,p.Lys549Asn,ENST00000391814,;SHANK1,missense_variant,p.Lys549Asn,ENST00000359082,;SHANK1,downstream_gene_variant,,ENST00000461154,;	A	ENST00000293441	Transcript	missense_variant	1666/6643	1647/6486	549/2161	K/N	aaG/aaT		1		-1	SHANK1	HGNC	HGNC:15474	protein_coding	YES	CCDS12799.1	ENSP00000293441	Q9Y566		UPI000013E109	NM_016148.2	deleterious(0)		11/23		hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	50702567	50702567	C	A	1	0	0	0	0	1	0	0	0	14523	796	28	2		2	SHANK1	19	50702567	Missense_Mutation	SNP	C	C3L-00080_TP	2260317	50702567	7915049	725	2936											
SIGLEC7	0	.	GRCh38	chr19	51142527	51142527	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttctcctacccagtggAcagccagactgactctgacc	8	9	7	17	0	2	3	0	2	2	1	4	4	3	4	5	1	2	0	5	1	1	2	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.158A>G	p.Asp53Gly	p.D53G	ENST00000317643	1/7	560	268	292	493	493	0	strelka-varscan-mutect	SIGLEC7,missense_variant,p.Asp53Gly,ENST00000317643,NM_014385.3;SIGLEC7,missense_variant,p.Asp53Gly,ENST00000305628,NM_016543.3;SIGLEC7,missense_variant,p.Asp53Gly,ENST00000601682,;SIGLEC7,missense_variant,p.Asp53Gly,ENST00000600577,NM_001277201.1;SIGLEC7,missense_variant,p.Asp53Gly,ENST00000536156,;SIGLEC7,upstream_gene_variant,,ENST00000599250,;CTD-3187F8.15,downstream_gene_variant,,ENST00000601996,;SIGLEC19P,upstream_gene_variant,,ENST00000600623,;	G	ENST00000317643	Transcript	missense_variant	227/1754	158/1404	53/467	D/G	gAc/gGc		1		1	SIGLEC7	HGNC	HGNC:10876	protein_coding	YES	CCDS12826.1	ENSP00000323328	Q9Y286		UPI000011B40B	NM_014385.3	tolerated(0.34)		1/7		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	51142527	51142527	A	G	1	0	0	0	0	1	0	0	0	14577	275	10	5		5	SIGLEC7	19	51142527	Missense_Mutation	SNP	A	C3L-00080_TP	439960	51142527	7475089	726	2937											
ZNF841	0	.	GRCh38	chr19	52066327	52066327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaattaaaggctttgcCacattcattacatttgtaag	12	13	6	10	0	1	0	1	0	0	0	1	0	1	0	3	1	2	2	3	1	5	6	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1555G>T	p.Gly519Cys	p.G519C	ENST00000594295	6/6	119	66	53	101	101	0	strelka-varscan-mutect	ZNF841,missense_variant,p.Gly519Cys,ENST00000594295,NM_001136499.1;ZNF841,missense_variant,p.Gly403Cys,ENST00000426391,NM_001321349.1;ZNF841,missense_variant,p.Gly519Cys,ENST00000389534,;ZNF841,intron_variant,,ENST00000601738,;ZNF432,upstream_gene_variant,,ENST00000600368,;CTC-471J1.2,upstream_gene_variant,,ENST00000569091,;ZNF432,intron_variant,,ENST00000598446,;ZNF841,downstream_gene_variant,,ENST00000595599,;	A	ENST00000594295	Transcript	missense_variant	1958/3819	1555/2775	519/924	G/C	Ggc/Tgc		1		-1	ZNF841	HGNC	HGNC:27611	protein_coding	YES	CCDS46161.1	ENSP00000470746	Q6ZN19		UPI00001D818B	NM_001136499.1	deleterious(0)		6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF75,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE		SNV	3			1										PASS		.	.												A	3	1	7	52066327	52066327	C	A	1	0	0	0	0	1	0	0	0	18776	594	21	2		2	ZNF841	19	52066327	Missense_Mutation	SNP	C	C3L-00080_TP	923800	52066327	6551289	727	2938											
ERVV-1	0	.	GRCh38	chr19	53014969	53014969	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaataacatccaacatacGggagaatgtgctgtgggact	14	10	10	7	1	0	1	0	0	0	1	1	3	1	2	1	2	4	1	1	2	5	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.879G>T	p.=	p.T293T	ENST00000602168	1/1	306	157	149	211	211	0	strelka-varscan-mutect	ERVV-1,synonymous_variant,p.=,ENST00000602168,NM_152473.2;CTD-2620I22.3,downstream_gene_variant,,ENST00000596769,;ZNF702P,intron_variant,,ENST00000600425,;ZNF702P,intron_variant,,ENST00000594516,;	T	ENST00000602168	Transcript	synonymous_variant	1049/2202	879/1434	293/477	T	acG/acT		1		1	ERVV-1	HGNC	HGNC:26501	protein_coding	YES	CCDS59419.1	ENSP00000473153	B6SEH8	M9QQA5	UPI00018258B8	NM_152473.2			1/1		hmmpanther:PTHR10424:SF8,hmmpanther:PTHR10424																	LOW		SNV				1										PASS		rs1389825285	.												T	2	4	7	53014969	53014969	G	T	1	0	0	0	0	0	0	0	1	5106	1103	39	1		1	ERVV-1	19	53014969	Silent	SNP	G	C3L-00080_TP	948642	53014969	5602647	728	2939											
LILRB5	0	.	GRCh38	chr19	54256212	54256212	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgagtacagggtcctgggGagcttctgttcttcctcaac	6	13	12	10	0	3	1	1	1	2	0	5	2	5	2	2	3	3	3	2	3	2	4	rs750903433		C3L-00080_TP	C3L-00080_NB	G	G																c.486C>A	p.=	p.L162L	ENST00000449561	4/13	202	181	21	146	146	0	strelka-varscan-mutect	LILRB5,synonymous_variant,p.=,ENST00000316219,NM_006840.4;LILRB5,synonymous_variant,p.=,ENST00000449561,NM_001081442.2,NM_001304457.1;LILRB5,intron_variant,,ENST00000345866,NM_001081443.2;LILRB5,non_coding_transcript_exon_variant,,ENST00000615654,;LILRB5,intron_variant,,ENST00000621581,;	T	ENST00000449561	Transcript	synonymous_variant	557/2137	486/1776	162/591	L	ctC/ctA	rs750903433,COSM1001070,COSM375029	1		-1	LILRB5	HGNC	HGNC:6609	protein_coding	YES	CCDS46176.1	ENSP00000406478	O75023		UPI00034F239B	NM_001081442.2,NM_001304457.1			4/13		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF108,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs750903433	.												T	2	4	7	54256212	54256212	G	T	1	0	0	0	0	0	0	0	1	8702	1161	41	2		2	LILRB5	19	54256212	Silent	SNP	G	C3L-00080_TP	1241243	54256212	4361404	729	2940											
KIR3DX1	0	.	GRCh38	chr19	54535640	54535640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagctccctggtgcatgcagGagccagggtgagcctgcgct	7	7	15	12	1	0	1	0	1	0	0	1	2	1	2	3	3	6	4	3	3	1	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.404G>A	p.Gly135Glu	p.G135E	ENST00000221567	4/9	123	61	62	116	115	1	strelka-varscan-mutect	KIR3DX1,missense_variant,p.Gly135Glu,ENST00000610811,;KIR3DX1,non_coding_transcript_exon_variant,,ENST00000611588,;KIR3DX1,missense_variant,p.Gly135Glu,ENST00000221567,;KIR3DX1,non_coding_transcript_exon_variant,,ENST00000613375,;KIR3DX1,intron_variant,,ENST00000612759,;KIR3DX1,intron_variant,,ENST00000446586,;KIR3DX1,intron_variant,,ENST00000447145,;KIR3DX1,intron_variant,,ENST00000434659,;	A	ENST00000221567	Transcript	missense_variant,NMD_transcript_variant	411/1378	404/1059	135/352	G/E	gGa/gAa		1		1	KIR3DX1	HGNC	HGNC:25043	nonsense_mediated_decay	YES		ENSP00000221567	Q9H7L2		UPI0000DE238B		tolerated(0.09)		4/9		hmmpanther:PTHR11738:SF113,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	54535640	54535640	G	A	1	0	0	0	0	1	0	0	0	8187	1174	41	3		3	KIR3DX1	19	54535640	Missense_Mutation	SNP	G	C3L-00080_TP	279428	54535640	4081976	730	2941											
FAM71E2	0	.	GRCh38	chr19	55358743	55358743	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggatttcgagggctgctCtttggagttggccgtgatca	6	12	15	8	3	2	1	1	1	1	0	3	4	2	3	1	4	2	3	1	4	0	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2125G>T	p.Glu709Ter	p.E709*	ENST00000424985	9/11	58	52	6	49	49	0	strelka-varscan-mutect	FAM71E2,stop_gained,p.Glu709Ter,ENST00000424985,NM_001145402.1;COX6B2,upstream_gene_variant,,ENST00000593184,;COX6B2,upstream_gene_variant,,ENST00000588572,;COX6B2,upstream_gene_variant,,ENST00000326529,NM_144613.4;COX6B2,upstream_gene_variant,,ENST00000590900,;COX6B2,upstream_gene_variant,,ENST00000589467,;CTD-2105E13.6,stop_gained,p.Glu259Ter,ENST00000591954,;FAM71E2,3_prime_UTR_variant,,ENST00000585734,;COX6B2,upstream_gene_variant,,ENST00000587854,;COX6B2,upstream_gene_variant,,ENST00000587357,;	A	ENST00000424985	Transcript	stop_gained	2319/3191	2125/2769	709/922	E/*	Gag/Tag		1		-1	FAM71E2	HGNC	HGNC:25278	protein_coding	YES		ENSP00000398617	Q8N5Q1		UPI0001949ABA	NM_001145402.1			9/11		hmmpanther:PTHR22574:SF12,hmmpanther:PTHR22574																	HIGH		SNV	5			1										PASS		.	.												A	4	1	7	55358743	55358743	C	A	1	0	0	0	0	0	1	0	0	5476	922	32	2		2	FAM71E2	19	55358743	Nonsense_Mutation	SNP	C	C3L-00080_TP	823103	55358743	3258873	731	2942											
NLRP11	0	.	GRCh38	chr19	55810165	55810165	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctcccatcaggaacaCattgagattgtttgctgaat	10	14	7	10	0	3	2	1	2	2	1	5	4	3	3	1	1	2	2	1	1	2	3			C3L-00080_TP	C3L-00080_NB	C	C																c.445G>T	p.Val149Leu	p.V149L	ENST00000589093	3/10	212	102	110	168	168	0	strelka-varscan-mutect	NLRP11,missense_variant,p.Val149Leu,ENST00000589093,NM_145007.3;NLRP11,missense_variant,p.Val149Leu,ENST00000589824,;NLRP11,missense_variant,p.Val50Leu,ENST00000592953,NM_001297743.1;NLRP11,downstream_gene_variant,,ENST00000593208,;NLRP11,missense_variant,p.Val50Leu,ENST00000590409,;NLRP11,missense_variant,p.Val149Leu,ENST00000593244,;	A	ENST00000589093	Transcript	missense_variant	539/3417	445/3102	149/1033	V/L	Gtg/Ttg	COSM1681387	1		-1	NLRP11	HGNC	HGNC:22945	protein_coding	YES	CCDS12935.1	ENSP00000466285	P59045		UPI000013ED9D	NM_145007.3	tolerated(0.1)		3/10		PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF62,hmmpanther:PTHR24106,Pfam_domain:PF05729											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	7	55810165	55810165	C	A	1	0	0	0	0	1	0	0	0	10510	478	17	2		2	NLRP11	19	55810165	Missense_Mutation	SNP	C	C3L-00080_TP	451422	55810165	2807451	732	2943											
NLRP5	0	.	GRCh38	chr19	56053748	56053748	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacaatgccctgggtgacgGtggggttgctgcgctgtgcg	4	9	19	9	3	0	1	0	1	0	0	0	2	0	2	1	5	4	3	1	5	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.3239G>T	p.Gly1080Val	p.G1080V	ENST00000390649	13/15	226	121	105	170	170	0	strelka-varscan-mutect	NLRP5,missense_variant,p.Gly1080Val,ENST00000390649,NM_153447.4;NLRP5,missense_variant,p.Gly1080Val,ENST00000621651,;	T	ENST00000390649	Transcript	missense_variant	3239/3888	3239/3603	1080/1200	G/V	gGt/gTt		1		1	NLRP5	HGNC	HGNC:21269	protein_coding	YES	CCDS12938.1	ENSP00000375063	P59047		UPI00001AEEBD	NM_153447.4	tolerated(0.32)		13/15		hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Pfam_domain:PF13516,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	56053748	56053748	G	T	1	0	0	0	0	1	0	0	0	10518	1261	44	2		2	NLRP5	19	56053748	Missense_Mutation	SNP	G	C3L-00080_TP	243583	56053748	2563868	733	2944											
ZNF667	0	.	GRCh38	chr19	56441669	56441669	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacatttattgcatttgaaAggtttctcttcagaatgaat	12	17	6	6	0	2	3	1	2	1	1	3	3	2	3	0	1	2	2	0	1	5	7	rs748296008		C3L-00080_TP	C3L-00080_NB	A	A																c.1326T>A	p.=	p.P442P	ENST00000504904	7/7	165	145	20	141	141	0	strelka-varscan-mutect	ZNF667,synonymous_variant,p.=,ENST00000504904,NM_001321356.1;ZNF667,synonymous_variant,p.=,ENST00000292069,NM_022103.3;ZNF667,synonymous_variant,p.=,ENST00000629654,;ZNF667,3_prime_UTR_variant,,ENST00000591790,;ZNF667,downstream_gene_variant,,ENST00000587555,;ZNF667,3_prime_UTR_variant,,ENST00000592189,NM_001321355.1;	T	ENST00000504904	Transcript	synonymous_variant	2046/4390	1326/1833	442/610	P	ccT/ccA	rs748296008	1		-1	ZNF667	HGNC	HGNC:28854	protein_coding	YES	CCDS12944.1	ENSP00000439402	Q5HYK9		UPI0000202CEE	NM_001321356.1			7/7		PROSITE_profiles:PS50157,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF46,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	LOW	1	SNV	2			1										PASS		rs748296008	.												T	2	4	7	56441669	56441669	A	T	1	0	0	0	0	0	0	0	1	18648	59	3	4		4	ZNF667	19	56441669	Silent	SNP	A	C3L-00080_TP	387921	56441669	2175947	734	2945											
PEG3	0	.	GRCh38	chr19	56814323	56814323	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatggacattggcttcaacTtcctgggctgctgctgctgc	6	12	11	12	0	1	0	1	0	0	0	2	1	2	1	1	3	5	5	1	3	1	3	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.4119A>T	p.Glu1373Asp	p.E1373D	ENST00000326441	10/10	357	223	134	216	216	0	strelka-varscan-mutect	PEG3,missense_variant,p.Glu1373Asp,ENST00000326441,NM_001146186.1,NM_001146184.1,NM_006210.2;PEG3,missense_variant,p.Glu1249Asp,ENST00000598410,NM_001146187.1;PEG3,missense_variant,p.Glu1373Asp,ENST00000599534,;PEG3,missense_variant,p.Glu1373Asp,ENST00000599577,;PEG3,missense_variant,p.Glu1247Asp,ENST00000593695,NM_001146185.1;ZIM2,intron_variant,,ENST00000629319,NM_001146326.1,NM_001146327.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000593711,NM_015363.4;ZIM2,intron_variant,,ENST00000601070,;PEG3,downstream_gene_variant,,ENST00000600833,;PEG3,upstream_gene_variant,,ENST00000599565,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	A	ENST00000326441	Transcript	missense_variant	4483/8723	4119/4767	1373/1588	E/D	gaA/gaT		1		-1	PEG3	HGNC	HGNC:8826	protein_coding	YES	CCDS12948.1	ENSP00000326581	Q9GZU2		UPI000006D36D	NM_001146186.1,NM_001146184.1,NM_006210.2	tolerated(0.12)		10/10		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	56814323	56814323	T	A	1	0	0	0	0	1	0	0	0	11808	1606	56	4		4	PEG3	19	56814323	Missense_Mutation	SNP	T	C3L-00080_TP	372654	56814323	1803293	735	2946											
PEG3	0	.	GRCh38	chr19	56816701	56816701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaaagtggattttctggtGctcaatcagggcagaactat	11	11	10	9	0	3	1	2	0	1	1	3	2	3	2	1	3	2	2	1	3	4	3			C3L-00080_TP	C3L-00080_NB	G	G																c.1741C>G	p.His581Asp	p.H581D	ENST00000326441	10/10	224	138	86	122	122	0	strelka-varscan-mutect	PEG3,missense_variant,p.His581Asp,ENST00000326441,NM_001146186.1,NM_001146184.1,NM_006210.2;PEG3,missense_variant,p.His457Asp,ENST00000598410,NM_001146187.1;PEG3,missense_variant,p.His581Asp,ENST00000599534,;PEG3,missense_variant,p.His581Asp,ENST00000599577,;PEG3,missense_variant,p.His455Asp,ENST00000593695,NM_001146185.1;ZIM2,intron_variant,,ENST00000629319,NM_001146326.1,NM_001146327.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000593711,NM_015363.4;ZIM2,intron_variant,,ENST00000601070,;PEG3,downstream_gene_variant,,ENST00000600833,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	C	ENST00000326441	Transcript	missense_variant	2105/8723	1741/4767	581/1588	H/D	Cac/Gac	COSM5300196,COSM5300197	1		-1	PEG3	HGNC	HGNC:8826	protein_coding	YES	CCDS12948.1	ENSP00000326581	Q9GZU2		UPI000006D36D	NM_001146186.1,NM_001146184.1,NM_006210.2	deleterious(0)		10/10		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78,SMART_domains:SM00355,Superfamily_domains:SSF57667											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	7	56816701	56816701	G	C	1	0	0	0	0	1	0	0	0	11808	1319	46	4		4	PEG3	19	56816701	Missense_Mutation	SNP	G	C3L-00080_TP	2378	56816701	1800915	736	2947											
ZNF549	0	.	GRCh38	chr19	57537264	57537264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagactctttctgcgcaagGagtgtcacaggccaggactc	9	8	12	12	1	3	1	1	0	2	1	4	3	3	3	1	3	1	2	1	3	1	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.260G>T	p.Gly87Val	p.G87V	ENST00000376233	4/4	229	146	83	122	122	0	strelka-varscan-mutect	ZNF549,missense_variant,p.Gly87Val,ENST00000376233,NM_001199295.1;ZNF549,missense_variant,p.Gly74Val,ENST00000240719,NM_153263.2;ZNF549,intron_variant,,ENST00000602149,;ZNF549,intron_variant,,ENST00000594943,;ZNF550,intron_variant,,ENST00000601415,;ZNF550,downstream_gene_variant,,ENST00000325134,NM_001277090.1,NM_001277091.1;ZNF550,downstream_gene_variant,,ENST00000457177,NM_001277092.1,NM_001277093.1;ZNF550,downstream_gene_variant,,ENST00000447310,;ZNF550,downstream_gene_variant,,ENST00000376230,;	T	ENST00000376233	Transcript	missense_variant	441/4053	260/1923	87/640	G/V	gGa/gTa		1		1	ZNF549	HGNC	HGNC:26632	protein_coding	YES	CCDS56106.1	ENSP00000365407	Q6P9A3		UPI0000202D31	NM_001199295.1	tolerated(0.18)		4/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24387:SF30,hmmpanther:PTHR24387																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	57537264	57537264	G	T	1	0	0	0	0	1	0	0	0	18555	1174	41	2		2	ZNF549	19	57537264	Missense_Mutation	SNP	G	C3L-00080_TP	720563	57537264	1080352	737	2948											
SSTR4	0	.	GRCh38	chr20	23036155	23036155	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcttcctgctgcccgtGctggccattggcctgtgcta	2	12	13	14	1	0	0	0	0	0	0	1	0	1	0	4	3	4	4	4	3	1	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.672G>T	p.=	p.V224V	ENST00000255008	1/1	112	68	44	92	92	0	strelka-varscan-mutect	SSTR4,synonymous_variant,p.=,ENST00000255008,NM_001052.2;RP4-753D10.3,intron_variant,,ENST00000440921,;RP4-753D10.3,upstream_gene_variant,,ENST00000419734,;	T	ENST00000255008	Transcript	synonymous_variant	770/1427	672/1167	224/388	V	gtG/gtT		1		1	SSTR4	HGNC	HGNC:11333	protein_coding	YES	CCDS42856.1	ENSP00000255008	P31391		UPI000013CE7A	NM_001052.2			1/1		Transmembrane_helices:TMhelix,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF0,Prints_domain:PR00237																	LOW		SNV				1										PASS		.	.												T	2	4	7	23036155	23036155	G	T	1	0	0	0	0	0	0	0	1	15577	1306	46	2		2	SSTR4	20	23036155	Silent	SNP	G	C3L-00080_TP		23036155	41408012	738	2949											
CST9	0	.	GRCh38	chr20	23605732	23605732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactgtggcgaggaacatagGatcctggactattttattat	11	13	10	7	1	0	0	0	0	0	0	1	4	1	3	1	4	1	0	1	4	5	5	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.133C>A	p.Pro45Thr	p.P45T	ENST00000376971	1/2	204	129	75	214	214	0	strelka-varscan-mutect	CST9,missense_variant,p.Pro45Thr,ENST00000376971,NM_001008693.2;	T	ENST00000376971	Transcript	missense_variant	145/1592	133/480	45/159	P/T	Cct/Act		1		-1	CST9	HGNC	HGNC:13261	protein_coding	YES	CCDS33450.1	ENSP00000366170	Q5W186		UPI000013ED7B	NM_001008693.2	tolerated(0.62)		1/2		hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF47,Gene3D:3.10.450.10,Superfamily_domains:SSF54403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	23605732	23605732	G	T	1	0	0	0	0	1	0	0	0	3779	1174	41	2		2	CST9	20	23605732	Missense_Mutation	SNP	G	C3L-00080_TP	569577	23605732	40838435	739	2950											
DEFB118	0	.	GRCh38	chr20	31372869	31372869	+	Frame_Shift_Del	DEL	A	A	-																															ttattcagcctatagtggtgAaaaaaaatgctggaacagat																								rs756355406		C3L-00080_TP	C3L-00080_NB	A	A																c.78delA	p.Lys26AsnfsTer19	p.K26Nfs*19	ENST00000253381	2/2	107	81	26	93	92	1	sindel-varindel	DEFB118,frameshift_variant,p.Lys26AsnfsTer19,ENST00000253381,NM_054112.2;DEFB119,downstream_gene_variant,,ENST00000339144,;DEFB119,downstream_gene_variant,,ENST00000376321,NM_153289.3;SNORA40,upstream_gene_variant,,ENST00000390832,;DEFB119,downstream_gene_variant,,ENST00000492344,;	-	ENST00000253381	Transcript	frameshift_variant	104/1158	71/372	24/123	E/X	gAa/ga	rs756355406,TMP_ESP_20_29960672_29960672,COSM1163730	1		1	DEFB118	HGNC	HGNC:16196	protein_coding	YES	CCDS13177.1	ENSP00000253381	Q96PH6		UPI0000128D91	NM_054112.2			2/2		PD866254,hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF24											0,0,1						HIGH	1	deletion	1	7	0,0,1	1										PASS		.	.												-	7	5	7	31372869	31372869	A	-	1	0	1	0	1	0	0	0	0	4209	246	9	0		0	DEFB118	20	31372869	Frame_Shift_Del	DEL	A	C3L-00080_TP	7767137	31372869	33071298	740	2951											
KIF3B	0	.	GRCh38	chr20	32316786	32316786	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcaggcagtgaaggctGagatccatgacctccaagaa	13	7	11	10	0	1	4	1	3	0	2	3	5	3	4	3	2	1	3	3	2	3	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1660G>T	p.Glu554Ter	p.E554*	ENST00000375712	5/9	295	197	98	243	243	0	strelka-varscan-mutect	KIF3B,stop_gained,p.Glu554Ter,ENST00000375712,NM_004798.3;	T	ENST00000375712	Transcript	stop_gained	1827/6103	1660/2244	554/747	E/*	Gag/Tag		1		1	KIF3B	HGNC	HGNC:6320	protein_coding	YES	CCDS13200.1	ENSP00000364864	O15066		UPI000012DDB1	NM_004798.3			5/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF476																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	7	32316786	32316786	G	T	1	0	0	0	0	0	1	0	0	8166	1291	45	2		2	KIF3B	20	32316786	Nonsense_Mutation	SNP	G	C3L-00080_TP	943917	32316786	32127381	741	2952											
C20orf173	0	.	GRCh38	chr20	35528275	35528276	+	Frame_Shift_Ins	INS	-	-	T																															cactagggaaccagaccatcINSttccaaaatctgagaaagaa																								novel		C3L-00080_TP	C3L-00080_NB	-	-																c.591dupA	p.Asp198ArgfsTer61	p.D198Rfs*61	ENST00000444723	5/6	273	221	52	256	256	0	sindel-varindel	C20orf173,frameshift_variant,p.Asp198ArgfsTer61,ENST00000444723,NM_001145350.1;C20orf173,frameshift_variant,p.Asp145ArgfsTer61,ENST00000246199,;C20orf173,frameshift_variant,p.Asp198ArgfsTer74,ENST00000374345,;C20orf173,downstream_gene_variant,,ENST00000424444,;RP3-477O4.5,upstream_gene_variant,,ENST00000422009,;	T	ENST00000444723	Transcript	frameshift_variant	736-737/1059	591-592/609	197-198/202	-/X	-/A		1		-1	C20orf173	HGNC	HGNC:16166	protein_coding	YES	CCDS46594.1	ENSP00000403566	Q96LM9		UPI0001948489	NM_001145350.1			5/6																			HIGH	1	insertion	5			1										PASS		.	.												T	7	5	7	35528275	35528275	-	T	1	0	1	1	0	0	0	0	0	2004	913	32	0		0	C20orf173	20	35528275	Frame_Shift_Ins	INS	-	C3L-00080_TP	3211489	35528275	28915892	742	2953	68	2									
C20orf173	0	.	GRCh38	chr20	35528278	35528278	+	Missense_Mutation	SNP	C	C	T																															ctagggaaccagaccatcttCcaaaatctgagaaagaattg																										C3L-00080_TP	C3L-00080_NB	C	C																c.589G>A	p.Glu197Lys	p.E197K	ENST00000444723	5/6	289	234	55	265	265	0	strelka-mutect	C20orf173,missense_variant,p.Glu197Lys,ENST00000444723,NM_001145350.1;C20orf173,missense_variant,p.Glu144Lys,ENST00000246199,;C20orf173,missense_variant,p.Glu197Lys,ENST00000374345,;C20orf173,downstream_gene_variant,,ENST00000424444,;RP3-477O4.5,upstream_gene_variant,,ENST00000422009,;	T	ENST00000444723	Transcript	missense_variant	734/1059	589/609	197/202	E/K	Gaa/Aaa	COSM4553388,COSM4553389	1		-1	C20orf173	HGNC	HGNC:16166	protein_coding	YES	CCDS46594.1	ENSP00000403566	Q96LM9		UPI0001948489	NM_001145350.1	deleterious_low_confidence(0.04)		5/6													1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	7	35528278	35528278	C	T	1	0	0	0	0	1	0	0	0	2004	864	30	3		3	C20orf173	20	35528278	Missense_Mutation	SNP	C	C3L-00080_TP	3	35528278	28915889	743	2954	68	2									
SLC13A3	0	.	GRCh38	chr20	46596169	46596169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctttcacctcttgagctggCcaagcaggatgaggttaggg	8	10	14	9	0	2	2	1	2	1	0	2	3	2	3	2	4	2	4	2	4	2	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.782G>A	p.Gly261Asp	p.G261D	ENST00000279027	5/13	136	101	35	82	82	0	strelka-varscan-mutect	SLC13A3,missense_variant,p.Gly261Asp,ENST00000279027,NM_022829.5;SLC13A3,missense_variant,p.Gly214Asp,ENST00000290317,NM_001193342.1,NM_001011554.2;SLC13A3,missense_variant,p.Gly214Asp,ENST00000472148,NM_001193340.1;SLC13A3,missense_variant,p.Ala239Thr,ENST00000413164,NM_001193339.1;SLC13A3,missense_variant,p.Gly214Asp,ENST00000495082,;SLC13A3,missense_variant,p.Gly214Asp,ENST00000468915,;SLC13A3,missense_variant,p.Ala202Thr,ENST00000420568,;SLC13A3,missense_variant,p.Ala192Thr,ENST00000372121,;SLC13A3,missense_variant,p.Gly91Asp,ENST00000450298,;	T	ENST00000279027	Transcript	missense_variant	801/4017	782/1809	261/602	G/D	gGc/gAc		1		-1	SLC13A3	HGNC	HGNC:14430	protein_coding	YES	CCDS13400.1	ENSP00000279027	Q8WWT9		UPI000013542F	NM_022829.5	deleterious(0)		5/13		Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF62																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	46596169	46596169	C	T	1	0	0	0	0	1	0	0	0	14658	739	26	3		3	SLC13A3	20	46596169	Missense_Mutation	SNP	C	C3L-00080_TP	11067891	46596169	17847998	744	2955											
CDH4	0	.	GRCh38	chr20	61852870	61852870	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcaaccaggtctacaaCggctccgtggacgagggctc	9	8	11	13	3	3	0	2	0	1	0	5	2	4	1	2	4	3	2	2	4	3	2	rs139703524		C3L-00080_TP	C3L-00080_NB	C	C																c.849C>G	p.Asn283Lys	p.N283K	ENST00000614565	6/16	250	168	82	203	203	0	strelka-varscan-mutect	CDH4,missense_variant,p.Asn283Lys,ENST00000614565,NM_001794.4;CDH4,missense_variant,p.Asn189Lys,ENST00000611855,;CDH4,missense_variant,p.Asn209Lys,ENST00000543233,NM_001252338.2,NM_001252339.2;	G	ENST00000614565	Transcript	missense_variant	937/6513	849/2751	283/916	N/K	aaC/aaG	rs139703524,COSM1028753	1		1	CDH4	HGNC	HGNC:1763	protein_coding	YES	CCDS13488.1	ENSP00000484928	P55283		UPI000015FE86	NM_001794.4	tolerated(0.15)		6/16		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF81,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs139703524	.												G	3	3	7	61852870	61852870	C	G	1	0	0	0	0	1	0	0	0	2815	535	19	4		4	CDH4	20	61852870	Missense_Mutation	SNP	C	C3L-00080_TP	15256701	61852870	2591297	745	2956											
CDH4	0	.	GRCh38	chr20	61928213	61928213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacccccggccagcggcaccGggaccctccagatctatctc	7	6	9	19	3	2	1	0	0	2	1	4	2	3	2	6	3	2	1	6	3	2	2	rs777402708		C3L-00080_TP	C3L-00080_NB	G	G																c.1795G>A	p.Gly599Arg	p.G599R	ENST00000614565	12/16	341	288	53	225	225	0	strelka-varscan-mutect	CDH4,missense_variant,p.Gly599Arg,ENST00000614565,NM_001794.4;CDH4,missense_variant,p.Gly505Arg,ENST00000611855,;CDH4,missense_variant,p.Gly525Arg,ENST00000543233,NM_001252338.2,NM_001252339.2;	A	ENST00000614565	Transcript	missense_variant	1883/6513	1795/2751	599/916	G/R	Ggg/Agg	rs777402708,COSM193106	1		1	CDH4	HGNC	HGNC:1763	protein_coding	YES	CCDS13488.1	ENSP00000484928	P55283		UPI000015FE86	NM_001794.4	deleterious(0)		12/16		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF81,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs777402708	.												A	3	1	7	61928213	61928213	G	A	1	0	0	0	0	1	0	0	0	2815	1116	39	1		1	CDH4	20	61928213	Missense_Mutation	SNP	G	C3L-00080_TP	75343	61928213	2515954	746	2957											
LAMA5	0	.	GRCh38	chr20	62312487	62312487	+	Frame_Shift_Del	DEL	G	G	-																															cccagggccttgatgcctttGacgcagccacggactgagcc																								rs375474277		C3L-00080_TP	C3L-00080_NB	G	G																c.9273delC	p.Gly3093AlafsTer14	p.G3093Afs*14	ENST00000252999	68/80	314	238	76	226	226	0	sindel-varindel-pindel	LAMA5,frameshift_variant,p.Gly3093AlafsTer14,ENST00000252999,NM_005560.4;ADRM1,downstream_gene_variant,,ENST00000491935,;ADRM1,downstream_gene_variant,,ENST00000253003,NM_007002.3,NM_175573.2;ADRM1,downstream_gene_variant,,ENST00000620230,NM_001281437.1,NM_001281438.1;LAMA5,upstream_gene_variant,,ENST00000492698,;LAMA5,non_coding_transcript_exon_variant,,ENST00000370691,;LAMA5,non_coding_transcript_exon_variant,,ENST00000491036,;LAMA5,upstream_gene_variant,,ENST00000495695,;LAMA5,upstream_gene_variant,,ENST00000462415,;LAMA5,downstream_gene_variant,,ENST00000471042,;LAMA5,downstream_gene_variant,,ENST00000468786,;	-	ENST00000252999	Transcript	frameshift_variant	9340/11426	9273/11088	3091/3695	V/X	gtC/gt	rs375474277	1		-1	LAMA5	HGNC	HGNC:6485	protein_coding	YES	CCDS33502.1	ENSP00000252999	O15230		UPI0000161FDC	NM_005560.4			68/80		PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF261,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	7	62312487	62312487	G	-	1	0	1	0	1	0	0	0	0	8513	1277	45	0		0	LAMA5	20	62312487	Frame_Shift_Del	DEL	G	C3L-00080_TP	384274	62312487	2131680	747	2958											
LAMA5	0	.	GRCh38	chr20	62323485	62323485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccgggcagcagggcgttgCcgtagaagccgggggcacag	7	4	19	11	4	0	1	0	0	0	1	0	1	0	1	3	4	4	5	3	4	2	2	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.6035G>T	p.Gly2012Val	p.G2012V	ENST00000252999	45/80	130	96	34	87	87	0	strelka-varscan-mutect	LAMA5,missense_variant,p.Gly2012Val,ENST00000252999,NM_005560.4;LAMA5,downstream_gene_variant,,ENST00000497363,;LAMA5,downstream_gene_variant,,ENST00000464134,;LAMA5,upstream_gene_variant,,ENST00000481120,;	A	ENST00000252999	Transcript	missense_variant	6102/11426	6035/11088	2012/3695	G/V	gGc/gTc		1		-1	LAMA5	HGNC	HGNC:6485	protein_coding	YES	CCDS33502.1	ENSP00000252999	O15230		UPI0000161FDC	NM_005560.4	deleterious(0)		45/80		PROSITE_profiles:PS50027,PROSITE_patterns:PS01248,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		rs1404433333	.												A	3	1	7	62323485	62323485	C	A	1	0	0	0	0	1	0	0	0	8513	739	26	2		2	LAMA5	20	62323485	Missense_Mutation	SNP	C	C3L-00080_TP	10998	62323485	2120682	748	2959											
ADAMTS5	0	.	GRCh38	chr21	26932139	26932139	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgcatcagactgataGccatttttggcctcacactg	8	14	7	12	0	2	2	2	1	0	1	2	2	2	2	3	1	2	1	3	1	1	5	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1914C>A	p.=	p.G638G	ENST00000284987	6/8	153	107	46	134	134	0	strelka-varscan-mutect	ADAMTS5,synonymous_variant,p.=,ENST00000284987,NM_007038.3;AP001601.2,intron_variant,,ENST00000426771,;	T	ENST00000284987	Transcript	synonymous_variant	2036/9056	1914/2793	638/930	G	ggC/ggA		1		-1	ADAMTS5	HGNC	HGNC:221	protein_coding	YES	CCDS13579.1	ENSP00000284987	Q9UNA0		UPI00001AEAC2	NM_007038.3			6/8		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF37																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	26932139	26932139	G	T	1	0	0	0	0	0	0	0	1	313	958	34	2		2	ADAMTS5	21	26932139	Silent	SNP	G	C3L-00080_TP		26932139	19777844	749	2960											
KRTAP20-3	0	.	GRCh38	chr21	30642959	30642959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaatatagttatacctctgGctttggtgcctttagaatcc	10	16	7	8	0	1	1	0	0	1	1	2	1	2	1	3	2	2	2	3	2	8	8	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.71G>T	p.Gly24Val	p.G24V	ENST00000382826	1/1	209	174	35	161	161	0	strelka-varscan-mutect	KRTAP20-3,missense_variant,p.Gly24Val,ENST00000382826,NM_001128077.1;	T	ENST00000382826	Transcript	missense_variant	96/273	71/135	24/44	G/V	gGc/gTc		1		1	KRTAP20-3	HGNC	HGNC:34001	protein_coding	YES	CCDS46642.1	ENSP00000372276	Q3LI60		UPI00003D4D74	NM_001128077.1	deleterious_low_confidence(0)		1/1																			MODERATE	1	SNV				1										PASS		.	.												T	3	4	7	30642959	30642959	G	T	1	0	0	0	0	1	0	0	0	8425	1203	42	2		2	KRTAP20-3	21	30642959	Missense_Mutation	SNP	G	C3L-00080_TP	3710820	30642959	16067024	750	2961											
KRTAP21-2	0	.	GRCh38	chr21	30746998	30746998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcaaagtggtcggtagcCacagcagctagagctgtatc	11	8	13	9	1	0	1	0	0	0	1	2	1	0	1	1	2	5	7	1	2	5	4			C3L-00080_TP	C3L-00080_NB	C	C																c.205G>T	p.Gly69Cys	p.G69C	ENST00000333892	1/1	260	203	57	195	195	0	strelka-varscan-mutect	KRTAP21-2,missense_variant,p.Gly69Cys,ENST00000333892,NM_181617.1;KRTAP21-4P,upstream_gene_variant,,ENST00000454921,;	A	ENST00000333892	Transcript	missense_variant	236/440	205/252	69/83	G/C	Ggc/Tgc	COSM5234627	1		-1	KRTAP21-2	HGNC	HGNC:18946	protein_coding	YES	CCDS13605.1	ENSP00000334287	Q3LI59		UPI00001A9E4D	NM_181617.1	deleterious_low_confidence(0.03)		1/1		Pfam_domain:PF11759,Low_complexity_(Seg):seg											1						MODERATE	1	SNV			1	1										PASS		rs1203154675	.												A	3	1	7	30746998	30746998	C	A	1	0	0	0	0	1	0	0	0	8428	594	21	2		2	KRTAP21-2	21	30746998	Missense_Mutation	SNP	C	C3L-00080_TP	104039	30746998	15962985	751	2962											
HUNK	0	.	GRCh38	chr21	31974601	31974601	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcgtgctgcacatgaccGagaagctgggttacaagaac	11	7	13	10	3	0	3	0	1	0	2	1	4	0	3	1	1	5	4	1	1	4	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1057G>T	p.Glu353Ter	p.E353*	ENST00000270112	7/11	189	153	36	136	136	0	strelka-varscan-mutect	HUNK,stop_gained,p.Glu353Ter,ENST00000270112,NM_014586.1;HUNK,upstream_gene_variant,,ENST00000439107,;HUNK,non_coding_transcript_exon_variant,,ENST00000465574,;	T	ENST00000270112	Transcript	stop_gained	1417/7385	1057/2145	353/714	E/*	Gag/Tag		1		1	HUNK	HGNC	HGNC:13326	protein_coding	YES	CCDS13610.1	ENSP00000270112	P57058		UPI0000035B66	NM_014586.1			7/11		hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF188																	HIGH	1	SNV	1			1										PASS		rs1419673405	.												T	4	4	7	31974601	31974601	G	T	1	0	0	0	0	0	1	0	0	7354	1059	37	1		1	HUNK	21	31974601	Nonsense_Mutation	SNP	G	C3L-00080_TP	1227603	31974601	14735382	752	2963											
BRWD1	0	.	GRCh38	chr21	39312874	39312874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgttgtgctcgttgccCtcccagtccaatctcttcgg	3	14	8	16	2	1	0	0	0	1	0	7	0	4	0	4	1	2	3	4	1	1	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.165G>T	p.Glu55Asp	p.E55D	ENST00000333229	4/42	275	234	41	196	195	1	strelka-varscan-mutect	BRWD1,missense_variant,p.Glu55Asp,ENST00000342449,NM_033656.3;BRWD1,missense_variant,p.Glu55Asp,ENST00000333229,NM_018963.4;BRWD1,missense_variant,p.Glu55Asp,ENST00000380800,;BRWD1,missense_variant,p.Glu55Asp,ENST00000341322,NM_001007246.2;BRWD1-AS2,upstream_gene_variant,,ENST00000603064,;BRWD1-AS1,upstream_gene_variant,,ENST00000423274,;BRWD1,non_coding_transcript_exon_variant,,ENST00000470108,;BRWD1,non_coding_transcript_exon_variant,,ENST00000484090,;	A	ENST00000333229	Transcript	missense_variant	493/10141	165/6963	55/2320	E/D	gaG/gaT		1		-1	BRWD1	HGNC	HGNC:12760	protein_coding	YES	CCDS13662.1	ENSP00000330753	Q9NSI6		UPI0000163C12	NM_018963.4	tolerated(0.15)		4/42		hmmpanther:PTHR16266:SF26,hmmpanther:PTHR16266																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	39312874	39312874	C	A	1	0	0	0	0	1	0	0	0	1699	680	24	2		2	BRWD1	21	39312874	Missense_Mutation	SNP	C	C3L-00080_TP	7338273	39312874	7397109	753	2964											
DSCAM	0	.	GRCh38	chr21	40080256	40080256	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcccacatttgagatttTccaagcgataggaacgttcg	12	11	9	9	3	0	1	0	1	0	1	3	4	2	2	2	1	2	1	2	1	4	5	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.4316A>T	p.Glu1439Val	p.E1439V	ENST00000400454	25/33	146	102	44	111	111	0	strelka-varscan-mutect	DSCAM,missense_variant,p.Glu1439Val,ENST00000400454,NM_001389.3,NM_001271534.1;DSCAM,missense_variant,p.Glu1274Val,ENST00000617870,;DSCAM,missense_variant,p.Glu1191Val,ENST00000404019,;	A	ENST00000400454	Transcript	missense_variant	4794/8552	4316/6039	1439/2012	E/V	gAa/gTa		1		-1	DSCAM	HGNC	HGNC:3039	protein_coding	YES	CCDS42929.1	ENSP00000383303	O60469		UPI00000422DF	NM_001389.3,NM_001271534.1	deleterious(0.05)		25/33		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	40080256	40080256	T	A	1	0	0	0	0	1	0	0	0	4589	1783	62	4		4	DSCAM	21	40080256	Missense_Mutation	SNP	T	C3L-00080_TP	767382	40080256	6629727	754	2965											
SLC37A1	0	.	GRCh38	chr21	42543599	42543599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgctttctcttcctcattGaacgtaagtgcacgtggcct	6	15	9	11	2	2	1	1	1	1	0	4	1	3	1	2	1	3	3	2	1	2	4	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.727G>A	p.Glu243Lys	p.E243K	ENST00000352133	8/20	61	37	24	53	53	0	strelka-varscan-mutect	SLC37A1,missense_variant,p.Glu243Lys,ENST00000352133,NM_001320537.1;SLC37A1,missense_variant,p.Glu243Lys,ENST00000398341,NM_018964.3;SLC37A1,non_coding_transcript_exon_variant,,ENST00000487951,;	A	ENST00000352133	Transcript	missense_variant	1709/3664	727/1602	243/533	E/K	Gaa/Aaa		1		1	SLC37A1	HGNC	HGNC:11024	protein_coding	YES	CCDS13689.1	ENSP00000344648	P57057		UPI00001AEB81	NM_001320537.1	tolerated(0.06)		8/20		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PIRSF_domain:PIRSF002808,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF225,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	42543599	42543599	G	A	1	0	0	0	0	1	0	0	0	14875	1304	45	3		3	SLC37A1	21	42543599	Missense_Mutation	SNP	G	C3L-00080_TP	2463343	42543599	4166384	755	2966											
AIRE	0	.	GRCh38	chr21	44293837	44293837	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcggagatggtacggacGtgctgcggtgtactcactgc	6	10	16	9	4	1	1	1	0	0	1	1	3	1	2	0	4	6	3	0	4	2	2	rs557522986		C3L-00080_TP	C3L-00080_NB	G	G																c.1327G>C	p.Val443Leu	p.V443L	ENST00000291582	11/14	493	324	169	452	452	0	strelka-varscan-mutect	AIRE,missense_variant,p.Val443Leu,ENST00000291582,NM_000383.3;AIRE,non_coding_transcript_exon_variant,,ENST00000530812,;AIRE,non_coding_transcript_exon_variant,,ENST00000527919,;AIRE,non_coding_transcript_exon_variant,,ENST00000337909,;AIRE,non_coding_transcript_exon_variant,,ENST00000397994,;	C	ENST00000291582	Transcript	missense_variant	1454/2257	1327/1638	443/545	V/L	Gtg/Ctg	rs557522986	1		1	AIRE	HGNC	HGNC:360	protein_coding	YES	CCDS13706.1	ENSP00000291582	O43918		UPI0000030FA6	NM_000383.3	tolerated(0.79)		11/14		Gene3D:3.30.40.10,PROSITE_patterns:PS01359,hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF15,SMART_domains:SM00249,Superfamily_domains:SSF57903																	MODERATE	1	SNV	1			1										PASS		rs557522986	.												C	3	2	7	44293837	44293837	G	C	1	0	0	0	0	1	0	0	0	514	1145	40	4		4	AIRE	21	44293837	Missense_Mutation	SNP	G	C3L-00080_TP	1750238	44293837	2416146	756	2967											
CLTCL1	0	.	GRCh38	chr22	19196382	19196382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atagaggaacaccagctcagCccacaggtgtgcctgctctg	10	7	11	13	0	2	1	1	0	1	1	2	2	2	2	3	2	5	2	3	2	2	1	rs111922411		C3L-00080_TP	C3L-00080_NB	C	C																c.4075G>T	p.Ala1359Ser	p.A1359S	ENST00000427926	26/33	107	86	21	100	100	0	strelka-varscan-mutect	CLTCL1,missense_variant,p.Ala1359Ser,ENST00000427926,NM_007098.3;CLTCL1,missense_variant,p.Ala1359Ser,ENST00000621271,NM_001835.3;CLTCL1,missense_variant,p.Ala182Ser,ENST00000622493,;CLTCL1,missense_variant,p.Ala182Ser,ENST00000617926,;CLTCL1,3_prime_UTR_variant,,ENST00000617103,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000615606,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000611723,;	A	ENST00000427926	Transcript	missense_variant	4148/5513	4075/4923	1359/1640	A/S	Gct/Tct	rs111922411	1		-1	CLTCL1	HGNC	HGNC:2093	protein_coding	YES	CCDS46662.2	ENSP00000441158	P53675		UPI0000127ABE	NM_007098.3	tolerated(0.51)		26/33		PROSITE_profiles:PS50236,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,Gene3D:1.25.40.10,Pfam_domain:PF00637,PIRSF_domain:PIRSF002290,SMART_domains:SM00299,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs111922411	.												A	3	1	7	19196382	19196382	C	A	1	0	0	0	0	1	0	0	0	3339	739	26	2		2	CLTCL1	22	19196382	Missense_Mutation	SNP	C	C3L-00080_TP		19196382	31622086	757	2968											
SEPT5	0	.	GRCh38	chr22	19720870	19720870	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaggaccgggaactgaagGtgaacatgcagactggtggg	12	5	17	7	1	0	3	0	2	0	1	0	5	0	5	1	5	4	2	1	5	3	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.717+1G>A		p.X239_splice	ENST00000455784		212	161	51	201	201	0	strelka-varscan-mutect	SEPT5,splice_donor_variant,,ENST00000438754,NM_001009939.2;SEPT5,splice_donor_variant,,ENST00000455784,NM_002688.5;SEPT5,splice_donor_variant,,ENST00000406395,;SEPT5,splice_donor_variant,,ENST00000383045,;SEPT5,splice_donor_variant,,ENST00000412544,;SEPT5,splice_donor_variant,,ENST00000431124,;SEPT5,missense_variant,p.Val106Met,ENST00000413258,;GP1BB,upstream_gene_variant,,ENST00000366425,NM_000407.4;SEPT5,downstream_gene_variant,,ENST00000395109,;SEPT5,downstream_gene_variant,,ENST00000622227,;SEPT5,downstream_gene_variant,,ENST00000490204,;SEPT5,splice_donor_variant,,ENST00000455843,;SEPT5,splice_donor_variant,,ENST00000431044,;SEPT5,splice_donor_variant,,ENST00000470814,;SEPT5,splice_donor_variant,,ENST00000406172,;SEPT5,splice_donor_variant,,ENST00000480423,;SEPT5,downstream_gene_variant,,ENST00000477238,;	A	ENST00000455784	Transcript	splice_donor_variant	-/2070	717/1110	239/369				1		1	SEPT5	HGNC	HGNC:9164	protein_coding	YES	CCDS13764.1	ENSP00000391311	Q99719	X5DNA9	UPI000000127F	NM_002688.5				8/11																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	7	19720870	19720870	G	A	1	0	0	0	0	0	0	1	0	14343	1275	44	3		3	SEPT5	22	19720870	Splice_Site	SNP	G	C3L-00080_TP	524488	19720870	31097598	758	2969											
TOP3B	0	.	GRCh38	chr22	21962571	21962571	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggctctcctccaggggCacgctctgccagggcatgac	6	6	14	15	1	2	1	0	1	2	0	4	1	3	1	3	5	1	5	3	5	0	0	rs767429764		C3L-00080_TP	C3L-00080_NB	C	C																c.1383G>T	p.=	p.V461V	ENST00000398793	13/18	139	123	16	161	161	0	strelka-varscan-mutect	TOP3B,synonymous_variant,p.=,ENST00000398793,NM_003935.4;TOP3B,synonymous_variant,p.=,ENST00000457270,;TOP3B,synonymous_variant,p.=,ENST00000357179,NM_001282112.1,NM_001282113.1;LL22NC03-86G7.1,non_coding_transcript_exon_variant,,ENST00000458178,;TOP3B,3_prime_UTR_variant,,ENST00000444502,;TOP3B,3_prime_UTR_variant,,ENST00000457179,;TOP3B,3_prime_UTR_variant,,ENST00000436282,;TOP3B,non_coding_transcript_exon_variant,,ENST00000470338,;	A	ENST00000398793	Transcript	synonymous_variant	1818/3107	1383/2589	461/862	V	gtG/gtT	rs767429764	1		-1	TOP3B	HGNC	HGNC:11993	protein_coding	YES	CCDS13797.1	ENSP00000381773	O95985	A0A024R1C2	UPI00001371A1	NM_003935.4			13/18		Gene3D:2.70.20.10,Pfam_domain:PF01131,hmmpanther:PTHR11390,hmmpanther:PTHR11390:SF20,SMART_domains:SM00437,Superfamily_domains:SSF56712																	LOW	1	SNV	1			1										PASS		rs767429764	.												A	2	1	7	21962571	21962571	C	A	1	0	0	0	0	0	0	0	1	16844	697	25	2		2	TOP3B	22	21962571	Silent	SNP	C	C3L-00080_TP	2241701	21962571	28855897	759	2970											
RSPH14	0	.	GRCh38	chr22	23134073	23134073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccttgtacaggttccccCggcagactgggctggggtca	6	9	14	12	1	1	1	1	0	0	1	2	1	2	1	3	5	2	4	3	5	1	3	rs369415088		C3L-00080_TP	C3L-00080_NB	C	C																c.374G>A	p.Arg125Gln	p.R125Q	ENST00000216036	4/7	171	132	39	193	193	0	strelka-varscan-mutect	RSPH14,missense_variant,p.Arg125Gln,ENST00000216036,NM_014433.2;RSPH14,missense_variant,p.Arg50Gln,ENST00000439064,;RSPH14,missense_variant,p.Arg1Gln,ENST00000421213,;RSPH14,downstream_gene_variant,,ENST00000406876,;RSPH14,downstream_gene_variant,,ENST00000452757,;U7,downstream_gene_variant,,ENST00000459276,;Metazoa_SRP,upstream_gene_variant,,ENST00000635920,;	T	ENST00000216036	Transcript	missense_variant	571/1291	374/1047	125/348	R/Q	cGg/cAg	rs369415088,COSM3309399	1		-1	RSPH14	HGNC	HGNC:13437	protein_coding	YES	CCDS13803.1	ENSP00000216036	Q9UHP6		UPI000004A0CE	NM_014433.2	deleterious(0.01)		4/7		Gene3D:1.25.10.10,hmmpanther:PTHR15599,Superfamily_domains:SSF48371											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs369415088	.												T	3	4	7	23134073	23134073	C	T	1	0	0	0	0	1	0	0	0	13962	652	23	1		1	RSPH14	22	23134073	Missense_Mutation	SNP	C	C3L-00080_TP	1171502	23134073	27684395	760	2971											
BCR	0	.	GRCh38	chr22	23181772	23181772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcggtagcaggcccccttGgccgcccctggagtaccagc	5	6	14	16	2	0	0	0	0	0	0	0	1	0	1	6	5	3	3	6	5	2	3	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.812G>T	p.Trp271Leu	p.W271L	ENST00000305877	1/23	201	156	45	233	232	1	strelka-varscan-mutect	BCR,missense_variant,p.Trp271Leu,ENST00000305877,NM_004327.3;BCR,missense_variant,p.Trp271Leu,ENST00000398512,;BCR,missense_variant,p.Trp271Leu,ENST00000359540,NM_021574.2;BCR,intron_variant,,ENST00000479188,;BCRP8,upstream_gene_variant,,ENST00000412037,;	T	ENST00000305877	Transcript	missense_variant	1563/7082	812/3816	271/1271	W/L	tGg/tTg		1		1	BCR	HGNC	HGNC:1014	protein_coding	YES	CCDS13806.1	ENSP00000303507	P11274		UPI000016A088	NM_004327.3	deleterious_low_confidence(0.01)		1/23		hmmpanther:PTHR23182,hmmpanther:PTHR23182:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	23181772	23181772	G	T	1	0	0	0	0	1	0	0	0	1535	1357	47	2		2	BCR	22	23181772	Missense_Mutation	SNP	G	C3L-00080_TP	47699	23181772	27636696	761	2972											
MYO18B	0	.	GRCh38	chr22	26026943	26026943	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtggtctcttgaggtcCaccagcctcaaatgcatctc	7	11	10	13	0	3	1	1	1	2	0	6	1	4	1	3	3	2	2	3	3	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.6969C>A	p.=	p.S2323S	ENST00000335473	43/44	99	81	18	105	105	0	strelka-varscan-mutect	MYO18B,synonymous_variant,p.=,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,synonymous_variant,p.=,ENST00000407587,;MYO18B,synonymous_variant,p.=,ENST00000536101,;MYO18B,synonymous_variant,p.=,ENST00000543971,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;MYO18B,upstream_gene_variant,,ENST00000540454,;	A	ENST00000335473	Transcript	synonymous_variant	7219/8565	6969/7704	2323/2567	S	tcC/tcA		1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5			43/44																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	26026943	26026943	C	A	1	0	0	0	0	0	0	0	1	10067	581	21	2		2	MYO18B	22	26026943	Silent	SNP	C	C3L-00080_TP	2845171	26026943	24791525	762	2973											
SEZ6L	0	.	GRCh38	chr22	26169675	26169675	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgcagccacgatgccCgcggcccggccgcccgccgc	3	2	12	24	7	0	0	0	0	0	0	0	1	0	0	8	2	3	1	8	2	0	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.6C>A	p.=	p.P2P	ENST00000248933	1/17	87	47	40	40	40	0	strelka-varscan-mutect	SEZ6L,synonymous_variant,p.=,ENST00000529632,NM_001184775.1;SEZ6L,synonymous_variant,p.=,ENST00000360929,NM_001184776.1;SEZ6L,synonymous_variant,p.=,ENST00000404234,NM_001184773.1;SEZ6L,synonymous_variant,p.=,ENST00000248933,NM_021115.4;SEZ6L,synonymous_variant,p.=,ENST00000629590,NM_001184774.1;SEZ6L,synonymous_variant,p.=,ENST00000343706,NM_001184777.1;	A	ENST00000248933	Transcript	synonymous_variant	101/3248	6/3075	2/1024	P	ccC/ccA		1		1	SEZ6L	HGNC	HGNC:10763	protein_coding	YES	CCDS13833.1	ENSP00000248933	Q9BYH1		UPI0000136779	NM_021115.4			1/17		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		rs915540078	.												A	2	1	7	26169675	26169675	C	A	1	0	0	0	0	0	0	0	1	14422	639	23	1		1	SEZ6L	22	26169675	Silent	SNP	C	C3L-00080_TP	142732	26169675	24648793	763	2974											
GATSL3	0	.	GRCh38	chr22	30287203	30287203	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaatcatccctcgtcacagGcacaggctctccgcccacct	8	7	8	18	2	3	0	2	0	1	0	6	1	4	1	4	3	0	2	4	3	1	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1024C>G	p.Pro342Ala	p.P342A	ENST00000434291	9/13	45	37	8	53	53	0	strelka-varscan-mutect	RP1-130H16.18,missense_variant,p.Pro342Ala,ENST00000434291,;GATSL3,missense_variant,p.Pro153Ala,ENST00000407689,NM_001037666.2;GATSL3,missense_variant,p.Pro153Ala,ENST00000404953,;TBC1D10A,downstream_gene_variant,,ENST00000215790,NM_031937.2;TBC1D10A,downstream_gene_variant,,ENST00000403477,NM_001204240.1;TBC1D10A,downstream_gene_variant,,ENST00000403362,;GATSL3,non_coding_transcript_exon_variant,,ENST00000464854,;GATSL3,intron_variant,,ENST00000459785,;GATSL3,downstream_gene_variant,,ENST00000498572,;RP1-130H16.18,3_prime_UTR_variant,,ENST00000330168,;RP1-130H16.18,3_prime_UTR_variant,,ENST00000447976,;RP1-130H16.18,3_prime_UTR_variant,,ENST00000434987,;RP1-130H16.18,3_prime_UTR_variant,,ENST00000418047,;GATSL3,3_prime_UTR_variant,,ENST00000421236,;GATSL3,3_prime_UTR_variant,,ENST00000425691,;GATSL3,3_prime_UTR_variant,,ENST00000440839,;GATSL3,3_prime_UTR_variant,,ENST00000415484,;GATSL3,3_prime_UTR_variant,,ENST00000440704,;GATSL3,non_coding_transcript_exon_variant,,ENST00000497605,;GATSL3,non_coding_transcript_exon_variant,,ENST00000471480,;GATSL3,non_coding_transcript_exon_variant,,ENST00000463795,;GATSL3,non_coding_transcript_exon_variant,,ENST00000492159,;TBC1D10A,downstream_gene_variant,,ENST00000462073,;TBC1D10A,downstream_gene_variant,,ENST00000467596,;TBC1D10A,downstream_gene_variant,,ENST00000433426,;	C	ENST00000434291	Transcript	missense_variant	1024/1818	1024/1443	342/480	P/A	Cct/Gct		1		-1	RP1-130H16.18	Clone_based_vega_gene		protein_coding	YES		ENSP00000401535		H7C1Q1	UPI0001610F54		tolerated_low_confidence(0.88)		9/13																			MODERATE		SNV	2			1										PASS		.	.												C	3	2	7	30287203	30287203	G	C	1	0	0	0	0	1	0	0	0	6137	1203	42	4		4	GATSL3	22	30287203	Missense_Mutation	SNP	G	C3L-00080_TP	4117528	30287203	20531265	764	2975											
INPP5J	0	.	GRCh38	chr22	31128060	31128060	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagctctgggagaaggacCaggtggggtccttgtcccca	8	8	14	11	0	2	1	1	0	1	1	4	3	4	2	4	5	1	1	4	5	1	1	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1897C>T	p.Gln633Ter	p.Q633*	ENST00000331075	7/13	141	111	30	133	132	1	strelka-varscan-mutect	INPP5J,stop_gained,p.Gln566Ter,ENST00000412277,NM_001284286.1;INPP5J,stop_gained,p.Gln633Ter,ENST00000331075,NM_001284285.1;INPP5J,stop_gained,p.Gln266Ter,ENST00000405300,NM_001284289.1;INPP5J,stop_gained,p.Gln266Ter,ENST00000400294,NM_001284288.1;INPP5J,stop_gained,p.Gln198Ter,ENST00000620191,NM_001284287.1;INPP5J,stop_gained,p.Gln265Ter,ENST00000404390,NM_001002837.2;INPP5J,splice_region_variant,,ENST00000404453,;INPP5J,splice_region_variant,,ENST00000402238,;INPP5J,5_prime_UTR_variant,,ENST00000401755,;INPP5J,downstream_gene_variant,,ENST00000412985,;INPP5J,downstream_gene_variant,,ENST00000420017,;INPP5J,downstream_gene_variant,,ENST00000463528,;INPP5J,splice_region_variant,,ENST00000461241,;	T	ENST00000331075	Transcript	stop_gained,splice_region_variant	1946/3347	1897/3021	633/1006	Q/*	Cag/Tag		1		1	INPP5J	HGNC	HGNC:8956	protein_coding	YES	CCDS63453.1	ENSP00000333262	Q15735		UPI000004CB11	NM_001284285.1			7/13		hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF127,Pfam_domain:PF03372,Gene3D:3.60.10.10,SMART_domains:SM00128,Superfamily_domains:SSF56219																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	7	31128060	31128060	C	T	1	0	0	0	0	0	1	0	0	7662	608	21	3		3	INPP5J	22	31128060	Nonsense_Mutation	SNP	C	C3L-00080_TP	840857	31128060	19690408	765	2976											
BPIFC	0	.	GRCh38	chr22	32435793	32435793	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atactcggcgattccaatgtAgagcatggagttgctgcgtt	9	12	12	8	3	0	1	0	0	0	1	2	3	1	2	1	2	4	5	1	2	3	5	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.835T>A	p.Tyr279Asn	p.Y279N	ENST00000397452	9/16	305	267	38	308	308	0	strelka-varscan-mutect	BPIFC,missense_variant,p.Tyr279Asn,ENST00000397452,;BPIFC,missense_variant,p.Tyr279Asn,ENST00000300399,NM_174932.2;BPIFC,missense_variant,p.Tyr93Asn,ENST00000534972,;	T	ENST00000397452	Transcript	missense_variant	946/2091	835/1524	279/507	Y/N	Tac/Aac		1		-1	BPIFC	HGNC	HGNC:16503	protein_coding	YES	CCDS13906.1	ENSP00000380594	Q8NFQ6		UPI0000071B53		deleterious(0.02)		9/16		hmmpanther:PTHR10504:SF17,hmmpanther:PTHR10504,Pfam_domain:PF02886,PIRSF_domain:PIRSF002417,Gene3D:1ewfA02,SMART_domains:SM00329,Superfamily_domains:SSF55394																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	7	32435793	32435793	A	T	1	0	0	0	0	1	0	0	0	1662	420	15	4		4	BPIFC	22	32435793	Missense_Mutation	SNP	A	C3L-00080_TP	1307733	32435793	18382675	766	2977											
CSF2RB	0	.	GRCh38	chr22	36935390	36935390	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctcatcgtgatcttccTcaccatcgctgtgctcctgg	4	12	9	16	2	3	1	2	1	1	0	7	1	5	1	4	2	1	2	4	2	0	1	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.1355T>A	p.Leu452His	p.L452H	ENST00000403662	11/14	451	357	94	398	398	0	strelka-varscan-mutect	CSF2RB,missense_variant,p.Leu452His,ENST00000403662,NM_000395.2;CSF2RB,missense_variant,p.Leu452His,ENST00000262825,;CSF2RB,missense_variant,p.Leu458His,ENST00000406230,;CSF2RB,downstream_gene_variant,,ENST00000421539,;	A	ENST00000403662	Transcript	missense_variant	1577/4863	1355/2694	452/897	L/H	cTc/cAc		1		1	CSF2RB	HGNC	HGNC:2436	protein_coding	YES	CCDS13936.1	ENSP00000384053	P32927		UPI0000128C9F	NM_000395.2	deleterious(0.01)		11/14		Transmembrane_helices:TMhelix,hmmpanther:PTHR23037:SF22,hmmpanther:PTHR23037,PIRSF_domain:PIRSF001956																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	7	36935390	36935390	T	A	1	0	0	0	0	1	0	0	0	3736	1551	54	4		4	CSF2RB	22	36935390	Missense_Mutation	SNP	T	C3L-00080_TP	4499597	36935390	13883078	767	2978											
RIBC2	0	.	GRCh38	chr22	45422343	45422343	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagacagccaagcacctcCagaagctggaaagcaccacc	15	2	9	15	1	0	2	0	0	0	2	1	4	1	3	5	1	4	3	5	1	3	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.610C>T	p.Gln204Ter	p.Q204*	ENST00000614167	4/7	132	113	19	149	148	1	strelka-varscan-mutect	RIBC2,stop_gained,p.Gln204Ter,ENST00000614167,NM_015653.4;RIBC2,non_coding_transcript_exon_variant,,ENST00000466226,;RIBC2,non_coding_transcript_exon_variant,,ENST00000621287,;	T	ENST00000614167	Transcript	stop_gained	806/1479	610/1149	204/382	Q/*	Cag/Tag		1		1	RIBC2	HGNC	HGNC:13241	protein_coding	YES		ENSP00000483356		A0A087X0F7	UPI00003735F7	NM_015653.4			4/7		Pfam_domain:PF05914,hmmpanther:PTHR14517,hmmpanther:PTHR14517:SF10																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	7	45422343	45422343	C	T	1	0	0	0	0	0	1	0	0	13526	595	21	3		3	RIBC2	22	45422343	Nonsense_Mutation	SNP	C	C3L-00080_TP	8486953	45422343	5396125	768	2979											
FBLN1	0	.	GRCh38	chr22	45563090	45563090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggccatcaccggcggcaatGaggagggctttttcaccacc	8	8	12	13	2	2	1	2	1	0	0	2	2	2	2	4	5	0	2	4	5	1	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1990G>A	p.Glu664Lys	p.E664K	ENST00000402984	16/16	195	155	40	214	214	0	strelka-varscan-mutect	FBLN1,missense_variant,p.Glu664Lys,ENST00000402984,;FBLN1,missense_variant,p.Glu626Lys,ENST00000262722,NM_001996.3;FBLN1,intron_variant,,ENST00000327858,NM_006486.2;FBLN1,intron_variant,,ENST00000442170,NM_006485.3;FBLN1,downstream_gene_variant,,ENST00000340923,NM_006487.2;	A	ENST00000402984	Transcript	missense_variant	2093/2355	1990/2166	664/721	E/K	Gag/Aag		1		1	FBLN1	HGNC	HGNC:3600	protein_coding			ENSP00000385521		B1AHL2	UPI000165DBD3		tolerated(0.35)		16/16		PIRSF_domain:PIRSF036313,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF303																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	7	45563090	45563090	G	A	1	0	0	0	0	1	0	0	0	5561	1291	45	3		3	FBLN1	22	45563090	Missense_Mutation	SNP	G	C3L-00080_TP	140747	45563090	5255378	769	2980											
GTSE1	0	.	GRCh38	chr22	46316323	46316323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaattgaataagactagaaGtatcagacggcgagattcct	15	10	9	7	2	2	5	2	1	0	4	3	6	3	5	1	1	0	1	1	1	6	5	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1343G>T	p.Ser448Ile	p.S448I	ENST00000454366	7/12	104	81	23	117	117	0	strelka-mutect	GTSE1,missense_variant,p.Ser448Ile,ENST00000454366,NM_016426.6;GTSE1,non_coding_transcript_exon_variant,,ENST00000466510,;GTSE1,non_coding_transcript_exon_variant,,ENST00000479645,;	T	ENST00000454366	Transcript	missense_variant	1555/3112	1343/2220	448/739	S/I	aGt/aTt		1		1	GTSE1	HGNC	HGNC:13698	protein_coding	YES	CCDS14074.2	ENSP00000415430	Q9NYZ3		UPI000021D19B	NM_016426.6	deleterious(0)		7/12		hmmpanther:PTHR21584,hmmpanther:PTHR21584:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	46316323	46316323	G	T	1	0	0	0	0	1	0	0	0	6766	1029	36	2		2	GTSE1	22	46316323	Missense_Mutation	SNP	G	C3L-00080_TP	753233	46316323	4502145	770	2981											
VCX3A	0	.	GRCh38	chrX	6533751	6533751	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtagctggccgtctacacActcggtagttcttccatctc	7	12	9	13	2	3	0	0	0	3	0	6	1	4	0	2	2	2	4	2	2	3	5	rs755627458		C3L-00080_TP	C3L-00080_NB	A	A																c.555T>A	p.Ser185Arg	p.S185R	ENST00000381089	3/3	331	159	172	370	369	1	strelka-varscan-mutect	VCX3A,missense_variant,p.Ser185Arg,ENST00000381089,NM_016379.3;VCX3A,missense_variant,p.Ser125Arg,ENST00000612369,;VCX3A,missense_variant,p.Ser165Arg,ENST00000398729,;	T	ENST00000381089	Transcript	missense_variant	862/995	555/561	185/186	S/R	agT/agA	rs755627458	1		-1	VCX3A	HGNC	HGNC:18159	protein_coding	YES	CCDS35199.1	ENSP00000370479	Q9NNX9		UPI0000138292	NM_016379.3	tolerated_low_confidence(0.27)		3/3		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs755627458	.												T	3	4	7	6533751	6533751	A	T	1	0	0	0	0	1	0	0	0	17689	156	6	4		4	VCX3A	23	6533751	Missense_Mutation	SNP	A	C3L-00080_TP		6533751	149507144	771	2982											
ANOS1	0	.	GRCh38	chrX	8570636	8570636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaactatagtgacggtcaCactcccatcactgttgacgg	11	9	8	13	2	2	2	2	2	0	0	3	2	3	2	2	2	1	1	2	2	3	3	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.925G>A	p.Val309Met	p.V309M	ENST00000262648	7/14	217	113	104	232	232	0	strelka-varscan-mutect	ANOS1,missense_variant,p.Val309Met,ENST00000262648,NM_000216.2;ANOS1,non_coding_transcript_exon_variant,,ENST00000488294,;	T	ENST00000262648	Transcript	missense_variant	1075/6314	925/2043	309/680	V/M	Gtg/Atg		1		-1	ANOS1	HGNC	HGNC:6211	protein_coding	YES	CCDS14130.1	ENSP00000262648	P23352		UPI00001AE843	NM_000216.2	deleterious(0.02)		7/14		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR14131,hmmpanther:PTHR14131:SF3,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	8570636	8570636	C	T	1	0	0	0	0	1	0	0	0	812	478	17	3		3	ANOS1	23	8570636	Missense_Mutation	SNP	C	C3L-00080_TP	2036885	8570636	147470259	772	2983											
PHKA2	0	.	GRCh38	chrX	18926483	18926483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatatgtgactaagaatccGgcccggctggacttgaattg	11	11	11	8	2	0	3	0	2	0	1	1	4	1	4	2	3	0	1	2	3	5	5	rs376233279		C3L-00080_TP	C3L-00080_NB	G	G																c.1429C>G	p.Arg477Gly	p.R477G	ENST00000379942	14/33	260	123	137	231	231	0	strelka-varscan-mutect	PHKA2,missense_variant,p.Arg477Gly,ENST00000379942,NM_000292.2;PHKA2,upstream_gene_variant,,ENST00000464455,;	C	ENST00000379942	Transcript	missense_variant	2095/5559	1429/3708	477/1235	R/G	Cgg/Ggg	rs376233279	1		-1	PHKA2	HGNC	HGNC:8926	protein_coding	YES	CCDS14190.1	ENSP00000369274	P46019		UPI000012DF4B	NM_000292.2	deleterious(0)		14/33		Pfam_domain:PF00723,hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF5																	MODERATE	1	SNV	1			1										PASS		rs376233279	.												C	3	2	7	18926483	18926483	G	C	1	0	0	0	0	1	0	0	0	11932	1115	39	4		4	PHKA2	23	18926483	Missense_Mutation	SNP	G	C3L-00080_TP	10355847	18926483	137114412	773	2984											
MBTPS2	0	.	GRCh38	chrX	21845312	21845312	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttcttcctcttcctcCtcttcttcctcttcctcttc	0	21	0	20	0	7	0	0	0	7	0	14	0	13	0	6	0	0	0	6	0	0	7	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.366C>T	p.=	p.S122S	ENST00000379484	3/11	130	56	74	174	174	0	strelka-varscan-mutect	MBTPS2,synonymous_variant,p.=,ENST00000365779,;MBTPS2,synonymous_variant,p.=,ENST00000379484,NM_015884.3;MBTPS2,non_coding_transcript_exon_variant,,ENST00000465888,;LL0XNC01-138C3.2,upstream_gene_variant,,ENST00000618062,;	T	ENST00000379484	Transcript	synonymous_variant	465/4428	366/1560	122/519	S	tcC/tcT		1		1	MBTPS2	HGNC	HGNC:15455	protein_coding	YES	CCDS14201.1	ENSP00000368798	O43462		UPI000012F5A0	NM_015884.3			3/11		Low_complexity_(Seg):seg,hmmpanther:PTHR13325:SF3,hmmpanther:PTHR13325																	LOW	1	SNV	1			1										PASS		rs773969619	.												T	2	4	7	21845312	21845312	C	T	1	0	0	0	0	0	0	0	1	9295	668	24	3		3	MBTPS2	23	21845312	Silent	SNP	C	C3L-00080_TP	2918829	21845312	134195583	774	2985											
ZNF645	0	.	GRCh38	chrX	22273451	22273451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttcgcttgaaaaagttCgtcctcatattgctccgcca	8	12	8	13	4	1	1	1	1	0	0	5	1	3	1	3	0	1	4	3	0	3	5			C3L-00080_TP	C3L-00080_NB	C	C																c.460C>A	p.Arg154Ser	p.R154S	ENST00000323684	1/1	98	48	50	78	78	0	strelka-varscan-mutect	ZNF645,missense_variant,p.Arg154Ser,ENST00000323684,NM_152577.3;PTCHD1-AS,intron_variant,,ENST00000608254,;	A	ENST00000323684	Transcript	missense_variant	509/1519	460/1278	154/425	R/S	Cgt/Agt	COSM1119284	1		1	ZNF645	HGNC	HGNC:26371	protein_coding	YES	CCDS14205.1	ENSP00000323348	Q8N7E2		UPI0000073BD5	NM_152577.3	tolerated(0.42)		1/1		hmmpanther:PTHR13480,hmmpanther:PTHR13480:SF1											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	7	22273451	22273451	C	A	1	0	0	0	0	1	0	0	0	18634	884	31	1		1	ZNF645	23	22273451	Missense_Mutation	SNP	C	C3L-00080_TP	428139	22273451	133767444	775	2986											
POLA1	0	.	GRCh38	chrX	24699489	24699489	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaaaaaaatcaaagaagggGcgccaagaagccctagaaag	21	2	11	7	1	1	3	1	0	0	3	1	4	1	3	2	2	1	0	2	2	10	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.90G>A	p.=	p.G30G	ENST00000379059	2/37	68	28	40	101	101	0	strelka-varscan-mutect	POLA1,synonymous_variant,p.=,ENST00000379068,;POLA1,synonymous_variant,p.=,ENST00000379059,NM_016937.3;POLA1,synonymous_variant,p.=,ENST00000611764,;	A	ENST00000379059	Transcript	synonymous_variant	105/5440	90/4389	30/1462	G	ggG/ggA		1		1	POLA1	HGNC	HGNC:9173	protein_coding	YES	CCDS14214.1	ENSP00000368349	P09884		UPI000014D383	NM_016937.3			2/37		Low_complexity_(Seg):seg,hmmpanther:PTHR10322:SF21,hmmpanther:PTHR10322																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	7	24699489	24699489	G	A	1	0	0	0	0	0	0	0	1	12297	1190	42	3		3	POLA1	23	24699489	Silent	SNP	G	C3L-00080_TP	2426038	24699489	131341406	776	2987											
TAB3	0	.	GRCh38	chrX	30854913	30854913	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccctgtggtgaggacTgccacggcgtactctgagga	6	8	16	11	2	1	2	0	2	1	0	1	4	1	4	2	5	2	1	2	5	1	1	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.752A>T	p.Gln251Leu	p.Q251L	ENST00000378933	7/12	116	62	54	107	106	1	strelka-varscan-mutect	TAB3,missense_variant,p.Gln251Leu,ENST00000378933,NM_152787.4;TAB3,missense_variant,p.Gln251Leu,ENST00000378930,;TAB3,missense_variant,p.Gln251Leu,ENST00000378932,;TAB3,downstream_gene_variant,,ENST00000288422,;TAB3-AS2,downstream_gene_variant,,ENST00000445240,;TAB3,upstream_gene_variant,,ENST00000378928,;TAB3,missense_variant,p.Gln251Leu,ENST00000467136,;	A	ENST00000378933	Transcript	missense_variant	1299/6671	752/2139	251/712	Q/L	cAg/cTg		1		-1	TAB3	HGNC	HGNC:30681	protein_coding	YES	CCDS14226.1	ENSP00000368215	Q8N5C8		UPI0000071648	NM_152787.4	tolerated(0.67)		7/12		hmmpanther:PTHR10351:SF45,hmmpanther:PTHR10351																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	30854913	30854913	T	A	1	0	0	0	0	1	0	0	0	15893	1580	55	4		4	TAB3	23	30854913	Missense_Mutation	SNP	T	C3L-00080_TP	6155424	30854913	125185982	777	2988											
MAGEB16	0	.	GRCh38	chrX	35802406	35802406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctcagagtttctgctcCtcttccattgccgtcacaac	6	14	6	15	1	4	1	2	0	2	1	7	1	7	1	4	0	3	3	4	0	1	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.210C>T	p.=	p.S70S	ENST00000399989	2/2	109	31	78	81	81	0	strelka-varscan-mutect	MAGEB16,synonymous_variant,p.=,ENST00000399989,NM_001099921.1;MAGEB16,synonymous_variant,p.=,ENST00000399987,;MAGEB16,synonymous_variant,p.=,ENST00000399992,;MAGEB16,synonymous_variant,p.=,ENST00000399988,;MAGEB16,synonymous_variant,p.=,ENST00000399985,;	T	ENST00000399989	Transcript	synonymous_variant	489/1818	210/975	70/324	S	tcC/tcT		1		1	MAGEB16	HGNC	HGNC:21188	protein_coding	YES	CCDS43927.1	ENSP00000382871	A2A368		UPI00006C1BC1	NM_001099921.1			2/2		Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF24,Low_complexity_(Seg):seg,SMART_domains:SM01392																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	7	35802406	35802406	C	T	1	0	0	0	0	0	0	0	1	9089	668	24	3		3	MAGEB16	23	35802406	Silent	SNP	C	C3L-00080_TP	4947493	35802406	120238489	778	2989											
FAM47C	0	.	GRCh38	chrX	37010521	37010521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgtcccgtctccaccCagagcctcccaagactcggg	7	7	11	16	2	1	2	0	0	1	2	5	3	3	3	5	2	1	0	5	2	1	0	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.2111C>A	p.Pro704Gln	p.P704Q	ENST00000358047	1/1	353	155	198	284	284	0	strelka-varscan-mutect	FAM47C,missense_variant,p.Pro704Gln,ENST00000358047,NM_001013736.2;	A	ENST00000358047	Transcript	missense_variant	2125/3270	2111/3108	704/1035	P/Q	cCa/cAa		1		1	FAM47C	HGNC	HGNC:25301	protein_coding	YES	CCDS35227.1	ENSP00000367913	Q5HY64		UPI000041ABF8	NM_001013736.2	tolerated(0.16)		1/1		hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	7	37010521	37010521	C	A	1	0	0	0	0	1	0	0	0	5449	594	21	2		2	FAM47C	23	37010521	Missense_Mutation	SNP	C	C3L-00080_TP	1208115	37010521	119030374	779	2990											
DGKK	0	.	GRCh38	chrX	50386574	50386574	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggacactgagcctatcatAcattaagtcactctatatag	14	11	6	10	0	3	1	2	1	1	0	3	2	3	2	1	1	2	0	1	1	6	6	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.2131T>A	p.Tyr711Asn	p.Y711N	ENST00000611977	15/28	63	25	38	56	56	0	strelka-varscan-mutect	DGKK,missense_variant,p.Tyr711Asn,ENST00000611977,NM_001013742.3;	T	ENST00000611977	Transcript	missense_variant	2191/7407	2131/3816	711/1271	Y/N	Tat/Aat		1		-1	DGKK	HGNC	HGNC:32395	protein_coding	YES	CCDS75980.1	ENSP00000477515	Q5KSL6		UPI00004BA922	NM_001013742.3	tolerated(0.41)		15/28																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	50386574	50386574	A	T	1	0	0	0	0	1	0	0	0	4278	391	14	4		4	DGKK	23	50386574	Missense_Mutation	SNP	A	C3L-00080_TP	13376053	50386574	105654321	780	2991											
P2RY10	0	.	GRCh38	chrX	78960630	78960630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatttcaatactccctctAtgcaaccacctatatcctca	13	12	2	14	0	3	0	2	0	1	0	5	1	5	0	4	0	3	1	4	0	7	5	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.110A>G	p.Tyr37Cys	p.Y37C	ENST00000171757	4/4	180	74	106	153	153	0	strelka-varscan-mutect	P2RY10,missense_variant,p.Tyr37Cys,ENST00000171757,NM_014499.2;P2RY10,missense_variant,p.Tyr37Cys,ENST00000544091,NM_198333.1;P2RY10,non_coding_transcript_exon_variant,,ENST00000475374,;P2RY10,non_coding_transcript_exon_variant,,ENST00000461541,;	G	ENST00000171757	Transcript	missense_variant	390/1714	110/1020	37/339	Y/C	tAt/tGt		1		1	P2RY10	HGNC	HGNC:19906	protein_coding	YES	CCDS14442.1	ENSP00000171757	O00398		UPI0000050471	NM_014499.2	deleterious(0)		4/4		Transmembrane_helices:TMhelix,hmmpanther:PTHR24232:SF47,hmmpanther:PTHR24232,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	7	78960630	78960630	A	G	1	0	0	0	0	1	0	0	0	11420	449	16	5		5	P2RY10	23	78960630	Missense_Mutation	SNP	A	C3L-00080_TP	28574056	78960630	77080265	781	2992											
PCDH11X	0	.	GRCh38	chrX	91878534	91878534	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctgattctctcttcagtgTtgtaattgtcaatctgttcg	6	18	8	9	1	5	1	2	1	3	0	7	1	5	1	1	0	0	3	1	0	2	6	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.2294T>A	p.Val765Asp	p.V765D	ENST00000373094	2/7	220	92	128	174	174	0	strelka-varscan-mutect	PCDH11X,missense_variant,p.Val765Asp,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Val765Asp,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Val765Asp,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Val765Asp,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Val765Asp,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Val765Asp,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Val765Asp,ENST00000395337,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000298274,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000361724,;	A	ENST00000373094	Transcript	missense_variant	3139/9179	2294/4044	765/1347	V/D	gTt/gAt		1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4	deleterious(0)		2/7		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF25,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	7	91878534	91878534	T	A	1	0	0	0	0	1	0	0	0	11595	1725	60	4		4	PCDH11X	23	91878534	Missense_Mutation	SNP	T	C3L-00080_TP	12917904	91878534	64162361	782	2993											
MORF4L2	0	.	GRCh38	chrX	103676195	103676195	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtactcagcagaagccActttgtaatcactggcagta	11	10	11	9	0	2	1	2	0	0	1	2	1	2	1	1	3	3	5	1	3	4	4	novel		C3L-00080_TP	C3L-00080_NB	A	A																c.833T>A	p.Val278Glu	p.V278E	ENST00000422154	4/4	31	22	9	21	21	0	strelka-varscan-mutect	MORF4L2,missense_variant,p.Val278Glu,ENST00000422154,NM_001142418.1,NM_012286.2,NM_001142423.1,NM_001142424.1,NM_001142429.1,NM_001142425.1;MORF4L2,missense_variant,p.Val278Glu,ENST00000433176,NM_001142421.1,NM_001142428.1,NM_001142419.1,NM_001142431.1,NM_001142422.1,NM_001142420.1,NM_001142427.1,NM_001142432.1;MORF4L2,missense_variant,p.Val278Glu,ENST00000451301,NM_001142430.1,NM_001142426.1;MORF4L2,missense_variant,p.Val278Glu,ENST00000441076,;MORF4L2,missense_variant,p.Val278Glu,ENST00000360458,;MORF4L2,missense_variant,p.Val227Glu,ENST00000423833,;MORF4L2,downstream_gene_variant,,ENST00000434230,;MORF4L2,downstream_gene_variant,,ENST00000442614,;MORF4L2,downstream_gene_variant,,ENST00000418819,;MORF4L2,downstream_gene_variant,,ENST00000422355,;MORF4L2,downstream_gene_variant,,ENST00000492116,;MORF4L2,downstream_gene_variant,,ENST00000474653,;MORF4L2,downstream_gene_variant,,ENST00000498064,;MORF4L2,downstream_gene_variant,,ENST00000467755,;	T	ENST00000422154	Transcript	missense_variant	1288/1983	833/867	278/288	V/E	gTg/gAg		1		-1	MORF4L2	HGNC	HGNC:16849	protein_coding	YES	CCDS14512.1	ENSP00000394417	Q15014		UPI000012F567	NM_001142418.1,NM_012286.2,NM_001142423.1,NM_001142424.1,NM_001142429.1,NM_001142425.1	deleterious(0.02)		4/4		PROSITE_profiles:PS51640,hmmpanther:PTHR10880,hmmpanther:PTHR10880:SF25																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	103676195	103676195	A	T	1	0	0	0	0	1	0	0	0	9670	159	6	4		4	MORF4L2	23	103676195	Missense_Mutation	SNP	A	C3L-00080_TP	11797661	103676195	52364700	783	2994											
H2BFM	0	.	GRCh38	chrX	104040068	104040068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaagaggccaactccaCgaaggcccagaagcagaaga	16	1	11	13	1	0	4	0	0	0	4	1	5	1	4	4	2	2	1	4	2	5	0	rs373863467		C3L-00080_TP	C3L-00080_NB	C	C																c.92C>A	p.Thr31Lys	p.T31K	ENST00000355016	1/3	79	33	46	50	50	0	strelka-varscan-mutect	H2BFM,missense_variant,p.Thr31Lys,ENST00000355016,NM_001164416.1;H2BFM,missense_variant,p.Thr31Lys,ENST00000598335,;H2BFM,upstream_gene_variant,,ENST00000417637,;	A	ENST00000355016	Transcript	missense_variant	120/1882	92/465	31/154	T/K	aCg/aAg	rs373863467	1		1	H2BFM	HGNC	HGNC:27867	protein_coding	YES	CCDS55468.1	ENSP00000347119	P0C1H6	W0TYI6	UPI0000161AB5	NM_001164416.1	tolerated(0.46)		1/3		Gene3D:1.10.20.10,Pfam_domain:PF00125,hmmpanther:PTHR23428,hmmpanther:PTHR23428:SF34																	MODERATE	1	SNV	2			1										PASS		rs373863467	.												A	3	1	7	104040068	104040068	C	A	1	0	0	0	0	1	0	0	0	6813	536	19	1		1	H2BFM	23	104040068	Missense_Mutation	SNP	C	C3L-00080_TP	363873	104040068	52000827	784	2995											
ATG4A	0	.	GRCh38	chrX	108126094	108126094	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttttatccaagtatgaaGatcagattactattttcact	13	16	5	7	0	2	3	2	1	0	2	3	3	3	3	1	0	1	2	1	0	6	7	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.28G>C	p.Asp10His	p.D10H	ENST00000372232	2/13	116	43	73	102	102	0	strelka-varscan-mutect	ATG4A,missense_variant,p.Asp10His,ENST00000372232,NM_001321288.1,NM_052936.3;ATG4A,missense_variant,p.Asp10His,ENST00000345734,NM_178270.2;ATG4A,missense_variant,p.Asp7His,ENST00000394892,;ATG4A,5_prime_UTR_variant,,ENST00000457035,;ATG4A,missense_variant,p.Asp10His,ENST00000372246,NM_178271.2,NM_001321290.1;ATG4A,missense_variant,p.Asp10His,ENST00000343524,;	C	ENST00000372232	Transcript	missense_variant	187/2315	28/1197	10/398	D/H	Gat/Cat		1		1	ATG4A	HGNC	HGNC:16489	protein_coding	YES	CCDS14538.1	ENSP00000361306	Q8WYN0		UPI000000DCAF	NM_001321288.1,NM_052936.3	deleterious(0.02)		2/13		hmmpanther:PTHR22624,hmmpanther:PTHR22624:SF35																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	7	108126094	108126094	G	C	1	0	0	0	0	1	0	0	0	1248	942	33	4		4	ATG4A	23	108126094	Missense_Mutation	SNP	G	C3L-00080_TP	4086026	108126094	47914801	785	2996											
SAGE1	0	.	GRCh38	chrX	135910446	135910446	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcacaacatccgtgaagaGaagataaataacagccaacc	19	5	6	11	1	1	3	1	1	0	2	2	4	2	3	3	0	4	0	3	0	7	2			C3L-00080_TP	C3L-00080_NB	G	G																c.1896G>C	p.Glu632Asp	p.E632D	ENST00000324447	16/20	75	39	36	82	82	0	strelka-varscan-mutect	SAGE1,missense_variant,p.Glu632Asp,ENST00000324447,;SAGE1,missense_variant,p.Glu632Asp,ENST00000370709,NM_018666.2;SAGE1,missense_variant,p.Glu256Asp,ENST00000537770,;	C	ENST00000324447	Transcript	missense_variant	1970/2952	1896/2715	632/904	E/D	gaG/gaC	COSM3363826,COSM3363827	1		1	SAGE1	HGNC	HGNC:30369	protein_coding	YES	CCDS14652.1	ENSP00000323191	Q9NXZ1		UPI00001413AB		deleterious(0.01)		16/20		hmmpanther:PTHR12957:SF25,hmmpanther:PTHR12957											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	7	135910446	135910446	G	C	1	0	0	0	0	1	0	0	0	14068	933	33	4		4	SAGE1	23	135910446	Missense_Mutation	SNP	G	C3L-00080_TP	27784352	135910446	20130449	786	2997											
ARHGEF6	0	.	GRCh38	chrX	136681907	136681907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccagtgatttcaaatgtgCagtcattcccttcaatttca	11	15	5	10	0	4	1	4	1	0	0	5	1	5	1	2	0	2	1	2	0	3	5	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1541G>T	p.Cys514Phe	p.C514F	ENST00000250617	14/22	77	46	31	167	166	1	strelka-varscan-mutect	ARHGEF6,missense_variant,p.Cys514Phe,ENST00000250617,NM_004840.2;ARHGEF6,missense_variant,p.Cys360Phe,ENST00000370622,;ARHGEF6,missense_variant,p.Cys360Phe,ENST00000370620,NM_001306177.1;	A	ENST00000250617	Transcript	missense_variant	2747/6019	1541/2331	514/776	C/F	tGc/tTc		1		-1	ARHGEF6	HGNC	HGNC:685	protein_coding	YES	CCDS14660.1	ENSP00000250617	Q15052		UPI0000001C8E	NM_004840.2	tolerated(0.08)		14/22		PROSITE_profiles:PS50003,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF123,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		rs1170028473	.												A	3	1	7	136681907	136681907	C	A	1	0	0	0	0	1	0	0	0	1046	710	25	2		2	ARHGEF6	23	136681907	Missense_Mutation	SNP	C	C3L-00080_TP	771461	136681907	19358988	787	2998											
ZIC3	0	.	GRCh38	chrX	137568998	137568998	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatgtgcatacctcggacaAgccctatatctgcaaagtgt	11	10	9	11	1	1	0	0	0	1	0	2	1	1	1	2	1	4	3	2	1	5	3			C3L-00080_TP	C3L-00080_NB	A	A																c.1157A>T	p.Lys386Met	p.K386M	ENST00000287538	2/3	121	68	53	134	134	0	strelka-varscan-mutect	ZIC3,missense_variant,p.Lys386Met,ENST00000287538,NM_003413.3;ZIC3,missense_variant,p.Lys386Met,ENST00000370606,;RP11-158M9.1,upstream_gene_variant,,ENST00000636095,;RP11-158M9.1,upstream_gene_variant,,ENST00000637564,;RP1-137H15.2,upstream_gene_variant,,ENST00000442841,;ZIC3,non_coding_transcript_exon_variant,,ENST00000478471,;	T	ENST00000287538	Transcript	missense_variant	1707/3469	1157/1404	386/467	K/M	aAg/aTg	COSM1270939	1		1	ZIC3	HGNC	HGNC:12874	protein_coding	YES	CCDS14663.1	ENSP00000287538	O60481		UPI000013C3DD	NM_003413.3	deleterious(0)		2/3		PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF25,Gene3D:3.30.160.60,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	7	137568998	137568998	A	T	1	0	0	0	0	1	0	0	0	18259	72	3	4		4	ZIC3	23	137568998	Missense_Mutation	SNP	A	C3L-00080_TP	887091	137568998	18471897	788	2999											
MAGEC2	0	.	GRCh38	chrX	142203673	142203673	+	Silent	SNP	G	G	T																															aatgagctccatgaaaaagaGgagcagcaggagctcagagg																								novel		C3L-00080_TP	C3L-00080_NB	G	G																c.315C>A	p.=	p.S105S	ENST00000247452	3/3	60	39	21	97	97	0	strelka-varscan-mutect	MAGEC2,synonymous_variant,p.=,ENST00000247452,NM_016249.3;	T	ENST00000247452	Transcript	synonymous_variant	663/1991	315/1122	105/373	S	tcC/tcA		1		-1	MAGEC2	HGNC	HGNC:13574	protein_coding	YES	CCDS14678.1	ENSP00000354660	Q9UBF1		UPI000012F059	NM_016249.3			3/3		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1045886349	.												T	2	4	7	142203673	142203673	G	T	1	0	0	0	0	0	0	0	1	9099	987	35	2		2	MAGEC2	23	142203673	Silent	SNP	G	C3L-00080_TP	4634675	142203673	13837222	789	3000	69	2									
MAGEC2	0	.	GRCh38	chrX	142203674	142203674	+	Missense_Mutation	SNP	G	G	T																															atgagctccatgaaaaagagGagcagcaggagctcagagga																										C3L-00080_TP	C3L-00080_NB	G	G																c.314C>A	p.Ser105Tyr	p.S105Y	ENST00000247452	3/3	59	40	19	98	98	0	strelka-varscan-mutect	MAGEC2,missense_variant,p.Ser105Tyr,ENST00000247452,NM_016249.3;	T	ENST00000247452	Transcript	missense_variant	662/1991	314/1122	105/373	S/Y	tCc/tAc	COSM3913492	1		-1	MAGEC2	HGNC	HGNC:13574	protein_coding	YES	CCDS14678.1	ENSP00000354660	Q9UBF1		UPI000012F059	NM_016249.3	tolerated(0.06)		3/3		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	7	142203674	142203674	G	T	1	0	0	0	0	1	0	0	0	9099	1174	41	2		2	MAGEC2	23	142203674	Missense_Mutation	SNP	G	C3L-00080_TP	1	142203674	13837221	790	3001	69	2									
MAMLD1	0	.	GRCh38	chrX	150470772	150470772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcagcaatgctgccctggGgcccgccatgccctatgctc	6	7	11	17	1	0	0	0	0	0	0	1	0	0	0	4	2	6	4	4	2	2	1	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1124G>T	p.Gly375Val	p.G375V	ENST00000432680	3/5	178	101	77	235	235	0	strelka-varscan-mutect	MAMLD1,missense_variant,p.Gly400Val,ENST00000370401,;MAMLD1,missense_variant,p.Gly400Val,ENST00000262858,NM_005491.4;MAMLD1,missense_variant,p.Gly375Val,ENST00000426613,NM_001177466.2;MAMLD1,missense_variant,p.Gly375Val,ENST00000432680,NM_001177465.2;MAMLD1,downstream_gene_variant,,ENST00000358892,;MAMLD1,downstream_gene_variant,,ENST00000468306,;	T	ENST00000432680	Transcript	missense_variant	1299/3224	1124/2997	375/998	G/V	gGg/gTg		1		1	MAMLD1	HGNC	HGNC:2568	protein_coding	YES	CCDS55526.1	ENSP00000414517	Q13495		UPI00017A6EBC	NM_001177465.2	deleterious(0.02)		3/5		hmmpanther:PTHR15275,hmmpanther:PTHR15275:SF0																	MODERATE	1	SNV	2			1										PASS		rs1161206329	.												T	3	4	7	150470772	150470772	G	T	1	0	0	0	0	1	0	0	0	9129	1232	43	2		2	MAMLD1	23	150470772	Missense_Mutation	SNP	G	C3L-00080_TP	8267098	150470772	5570123	791	3002											
GPR50	0	.	GRCh38	chrX	151180698	151180698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggaatgttccattacctgGtgatgctgcagctggccacc	7	10	11	13	1	0	1	0	1	0	0	1	2	1	2	5	3	4	4	5	3	2	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1115G>T	p.Gly372Val	p.G372V	ENST00000218316	2/2	136	70	66	141	141	0	strelka-varscan-mutect	GPR50,missense_variant,p.Gly372Val,ENST00000218316,NM_004224.3;AF003625.3,upstream_gene_variant,,ENST00000602313,;GPR50-AS1,upstream_gene_variant,,ENST00000454196,;	T	ENST00000218316	Transcript	missense_variant	1184/1951	1115/1854	372/617	G/V	gGt/gTt		1		1	GPR50	HGNC	HGNC:4506	protein_coding	YES	CCDS44012.1	ENSP00000218316	Q13585		UPI000013C755	NM_004224.3	deleterious(0.03)		2/2		Prints_domain:PR01151																	MODERATE	1	SNV	1			1										PASS		rs1419443084	.												T	3	4	7	151180698	151180698	G	T	1	0	0	0	0	1	0	0	0	6582	1261	44	2		2	GPR50	23	151180698	Missense_Mutation	SNP	G	C3L-00080_TP	709926	151180698	4860197	792	3003											
PASD1	0	.	GRCh38	chrX	151672221	151672221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacaacacctgaaggagcaGcagcggcagctgcgggagca	13	2	15	11	2	0	1	0	1	0	0	0	4	0	3	1	3	8	5	1	3	3	0	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.1476G>T	p.Gln492His	p.Q492H	ENST00000370357	14/16	50	23	27	57	57	0	strelka-varscan-mutect	PASD1,missense_variant,p.Gln492His,ENST00000370357,NM_173493.2;PASD1,non_coding_transcript_exon_variant,,ENST00000464219,;RP11-45D17.1,downstream_gene_variant,,ENST00000413236,;	T	ENST00000370357	Transcript	missense_variant	1721/3163	1476/2322	492/773	Q/H	caG/caT		1		1	PASD1	HGNC	HGNC:20686	protein_coding	YES	CCDS35431.1	ENSP00000359382	Q8IV76		UPI0000074686	NM_173493.2	tolerated(0.24)		14/16		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	7	151672221	151672221	G	T	1	0	0	0	0	1	0	0	0	11552	962	34	2		2	PASD1	23	151672221	Missense_Mutation	SNP	G	C3L-00080_TP	491523	151672221	4368674	793	3004											
GABRA3	0	.	GRCh38	chrX	152189767	152189767	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaccttcttgccttccCaagcccaactccgcttggtg	5	11	8	17	1	1	0	0	0	1	0	3	0	3	0	5	2	3	2	5	2	2	4	novel		C3L-00080_TP	C3L-00080_NB	C	C																c.1106G>A	p.Trp369Ter	p.W369*	ENST00000370314	9/10	46	24	22	28	28	0	strelka-varscan-mutect	GABRA3,stop_gained,p.Trp369Ter,ENST00000370314,NM_000808.3;GABRA3,stop_gained,p.Trp369Ter,ENST00000535043,;RP11-329E24.6,downstream_gene_variant,,ENST00000453915,;GABRA3,non_coding_transcript_exon_variant,,ENST00000497894,;	T	ENST00000370314	Transcript	stop_gained	1345/3712	1106/1479	369/492	W/*	tGg/tAg		1		-1	GABRA3	HGNC	HGNC:4077	protein_coding	YES	CCDS14706.1	ENSP00000359337	P34903		UPI000002D730	NM_000808.3			9/10		hmmpanther:PTHR18945:SF216,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	7	152189767	152189767	C	T	1	0	0	0	0	0	1	0	0	6033	595	21	3		3	GABRA3	23	152189767	Nonsense_Mutation	SNP	C	C3L-00080_TP	517546	152189767	3851128	794	3005											
PNCK	0	.	GRCh38	chrX	153671674	153671674	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacaggaggttttcgggcTgtgacacacggacaccggga	10	7	14	10	3	0	1	0	1	0	0	1	4	0	4	1	5	1	2	1	5	1	3	novel		C3L-00080_TP	C3L-00080_NB	T	T																c.664-2A>T		p.X222_splice	ENST00000447676		15	10	5	18	18	0	strelka-varscan-mutect	PNCK,splice_acceptor_variant,,ENST00000370150,;PNCK,splice_acceptor_variant,,ENST00000447676,NM_001039582.3;PNCK,splice_acceptor_variant,,ENST00000370142,;PNCK,splice_acceptor_variant,,ENST00000340888,;PNCK,splice_acceptor_variant,,ENST00000370145,NM_001135740.1;PNCK,splice_acceptor_variant,,ENST00000422811,;PNCK,splice_acceptor_variant,,ENST00000439087,;PNCK,downstream_gene_variant,,ENST00000425526,;PNCK,downstream_gene_variant,,ENST00000418241,;PNCK,downstream_gene_variant,,ENST00000419804,;PNCK,downstream_gene_variant,,ENST00000458354,;PNCK,downstream_gene_variant,,ENST00000423545,;PNCK,upstream_gene_variant,,ENST00000438984,;PNCK,downstream_gene_variant,,ENST00000434652,;PNCK,splice_acceptor_variant,,ENST00000475172,;PNCK,downstream_gene_variant,,ENST00000462280,;PNCK,downstream_gene_variant,,ENST00000460106,;PNCK,splice_acceptor_variant,,ENST00000466074,;PNCK,splice_acceptor_variant,,ENST00000488994,;PNCK,splice_acceptor_variant,,ENST00000466638,;PNCK,splice_acceptor_variant,,ENST00000489536,;PNCK,splice_acceptor_variant,,ENST00000433470,;PNCK,splice_acceptor_variant,,ENST00000411968,;PNCK,non_coding_transcript_exon_variant,,ENST00000472324,;PNCK,non_coding_transcript_exon_variant,,ENST00000473680,;PNCK,non_coding_transcript_exon_variant,,ENST00000488168,;PNCK,non_coding_transcript_exon_variant,,ENST00000465303,;PNCK,downstream_gene_variant,,ENST00000463548,;PNCK,downstream_gene_variant,,ENST00000466662,;	A	ENST00000447676	Transcript	splice_acceptor_variant	-/1585	664/1281	222/426				1		-1	PNCK	HGNC	HGNC:13415	protein_coding	YES	CCDS35503.2	ENSP00000405950	Q6P2M8		UPI0000237966	NM_001039582.3				5/11																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	7	153671674	153671674	T	A	1	0	0	0	0	0	0	1	0	12252	1594	55	4		4	PNCK	23	153671674	Splice_Site	SNP	T	C3L-00080_TP	1481907	153671674	2369221	795	3006											
VAMP7	0	.	GRCh38	chrX	155889544	155889544	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggaggaaacttcctGgaggtgacagagcagattct	10	10	15	6	0	1	3	0	1	1	2	2	6	2	6	1	5	2	1	1	5	1	2	novel		C3L-00080_TP	C3L-00080_NB	G	G																c.78G>T	p.=	p.L26L	ENST00000262640	2/7	346	271	75	218	218	0	strelka-varscan-mutect	VAMP7,synonymous_variant,p.=,ENST00000286448,NM_005638.5;VAMP7,synonymous_variant,p.=,ENST00000262640,NM_001185183.1;VAMP7,synonymous_variant,p.=,ENST00000460621,NM_001145149.2;VAMP7,non_coding_transcript_exon_variant,,ENST00000479687,;VAMP7,non_coding_transcript_exon_variant,,ENST00000463317,;VAMP7,synonymous_variant,p.=,ENST00000488344,;	T	ENST00000262640	Transcript	synonymous_variant	161/2496	78/783	26/260	L	ctG/ctT		1		1	VAMP7	HGNC	HGNC:11486	protein_coding	YES	CCDS55548.1	ENSP00000262640	P51809	A0A024R074	UPI000006F699	NM_001185183.1			2/7		Gene3D:3.30.450.50,PROSITE_profiles:PS50859,hmmpanther:PTHR21136,hmmpanther:PTHR21136:SF86,Superfamily_domains:SSF64356																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	7	155889544	155889544	G	T	1	0	0	0	0	0	0	0	1	17662	1362	47	2		2	VAMP7	23	155889544	Silent	SNP	G	C3L-00080_TP	2217870	155889544	151351	796	3007											
PRAMEF12	0	.	GRCh38	chr1	12775102	12775102	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtaatctagagatctttCgagctgtgctggaggggctt	8	13	13	7	1	2	1	0	0	2	1	3	4	2	2	0	3	2	4	0	3	2	4	rs746102731		C3L-00093_TP	C3L-00093_NB	C	C																c.235C>A	p.=	p.R79R	ENST00000357726	1/3	121	110	11	93	93	0	strelka-varscan-mutect	PRAMEF12,synonymous_variant,p.=,ENST00000357726,NM_001080830.4;	A	ENST00000357726	Transcript	synonymous_variant	262/1786	235/1452	79/483	R	Cga/Aga	rs746102731	1		1	PRAMEF12	HGNC	HGNC:22125	protein_coding	YES	CCDS41254.1	ENSP00000350358	O95522		UPI0000EE6E0A	NM_001080830.4			1/3		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF31,PIRSF_domain:PIRSF038286																	LOW	1	SNV	2			1										PASS		rs746102731	.												A	2	1	8	12775102	12775102	C	A	1	0	0	0	0	0	0	0	1	12557	876	31	1		1	PRAMEF12	1	12775102	Silent	SNP	C	C3L-00093_TP		12775102	236181320	1	3008											
KAZN	0	.	GRCh38	chr1	15101607	15101607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgaatgacattggcCtgtcccagtactcccaggcc	7	9	10	15	0	0	2	0	2	0	0	2	2	2	2	5	3	1	2	5	3	2	2	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.1612C>A	p.Leu538Met	p.L538M	ENST00000376030	11/15	349	327	22	244	244	0	strelka-varscan-mutect	KAZN,missense_variant,p.Leu626Met,ENST00000636203,;KAZN,missense_variant,p.Leu538Met,ENST00000376030,NM_201628.2;	A	ENST00000376030	Transcript	missense_variant	1906/6030	1612/2328	538/775	L/M	Ctg/Atg		1		1	KAZN	HGNC	HGNC:29173	protein_coding	YES	CCDS152.2	ENSP00000365198	Q674X7		UPI0000E1E68A	NM_201628.2	deleterious(0)		11/15		Gene3D:1.10.150.50,Pfam_domain:PF00536,PROSITE_profiles:PS50105,hmmpanther:PTHR12776,hmmpanther:PTHR12776:SF1,SMART_domains:SM00454,Superfamily_domains:SSF47769																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	8	15101607	15101607	C	A	1	0	0	0	0	1	0	0	0	7907	680	24	2		2	KAZN	1	15101607	Missense_Mutation	SNP	C	C3L-00093_TP	2326505	15101607	233854815	2	3009											
CLCNKA	0	.	GRCh38	chr1	16031815	16031815	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgtgacctccacagacgtGaccgagtatcccctggtgga	8	9	12	12	2	0	3	0	2	0	1	2	5	2	4	5	2	0	2	5	2	1	2	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.1728G>A	p.=	p.V576V	ENST00000331433	16/20	370	350	20	267	267	0	varscan-mutect	CLCNKA,synonymous_variant,p.=,ENST00000375692,NM_001042704.1;CLCNKA,synonymous_variant,p.=,ENST00000331433,NM_004070.3;CLCNKA,synonymous_variant,p.=,ENST00000439316,NM_001257139.1;CLCNKA,non_coding_transcript_exon_variant,,ENST00000464764,;CLCNKA,downstream_gene_variant,,ENST00000491433,;RP11-5P18.10,downstream_gene_variant,,ENST00000447882,;	A	ENST00000331433	Transcript	synonymous_variant	1747/2475	1728/2064	576/687	V	gtG/gtA		1		1	CLCNKA	HGNC	HGNC:2026	protein_coding	YES	CCDS167.1	ENSP00000332771	P51800		UPI0000127993	NM_004070.3			16/20		Gene3D:3.10.580.10,Pfam_domain:PF00571,PROSITE_profiles:PS51371,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF95,SMART_domains:SM00116,Superfamily_domains:SSF54631																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	8	16031815	16031815	G	A	1	0	0	0	0	0	0	0	1	3233	1277	45	3		3	CLCNKA	1	16031815	Silent	SNP	G	C3L-00093_TP	930208	16031815	232924607	3	3010											
ADGRL2	0	.	GRCh38	chr1	81990608	81990608	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcagcaagactcacaacctCgagctcacgctaccagtcaa	14	5	7	15	2	3	1	3	0	0	1	4	2	3	1	2	0	5	4	2	0	4	1	rs549347800		C3L-00093_TP	C3L-00093_NB	C	C																c.3675C>G	p.=	p.L1225L	ENST00000319517	20/20	305	268	37	214	214	0	strelka-varscan-mutect	ADGRL2,synonymous_variant,p.=,ENST00000370728,;ADGRL2,synonymous_variant,p.=,ENST00000370730,;ADGRL2,synonymous_variant,p.=,ENST00000370717,;ADGRL2,synonymous_variant,p.=,ENST00000627151,;ADGRL2,synonymous_variant,p.=,ENST00000319517,NM_012302.3;ADGRL2,synonymous_variant,p.=,ENST00000370725,;ADGRL2,synonymous_variant,p.=,ENST00000370723,;ADGRL2,synonymous_variant,p.=,ENST00000370727,;ADGRL2,synonymous_variant,p.=,ENST00000370721,;ADGRL2,synonymous_variant,p.=,ENST00000359929,NM_001297704.1;ADGRL2,synonymous_variant,p.=,ENST00000449420,;ADGRL2,synonymous_variant,p.=,ENST00000402328,;ADGRL2,3_prime_UTR_variant,,ENST00000370715,NM_001297705.1;ADGRL2,3_prime_UTR_variant,,ENST00000370713,NM_001297706.1;ADGRL2,non_coding_transcript_exon_variant,,ENST00000469377,;ADGRL2,non_coding_transcript_exon_variant,,ENST00000472424,;ADGRL2,non_coding_transcript_exon_variant,,ENST00000464775,;ADGRL2,non_coding_transcript_exon_variant,,ENST00000464551,;	G	ENST00000319517	Transcript	synonymous_variant	3891/5479	3675/4212	1225/1403	L	ctC/ctG	rs549347800	1		1	ADGRL2	HGNC	HGNC:18582	protein_coding	YES	CCDS689.1	ENSP00000322270	O95490		UPI000005046B	NM_012302.3			20/20		Pfam_domain:PF02354																	LOW	1	SNV	1			1										PASS		rs549347800	.												G	2	3	8	81990608	81990608	C	G	1	0	0	0	0	0	0	0	1	376	871	31	4		4	ADGRL2	1	81990608	Silent	SNP	C	C3L-00093_TP	65958793	81990608	166965814	4	3011											
SPAG17	0	.	GRCh38	chr1	117973459	117973459	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacttaggcttggaactcAgcaaataatgaggcaacttc	14	9	10	8	0	1	2	1	1	0	1	2	4	1	3	0	3	3	3	0	3	5	4	rs61729968		C3L-00093_TP	C3L-00093_NB	A	A																c.6107T>C	p.Leu2036Pro	p.L2036P	ENST00000336338	44/49	250	208	42	166	166	0	strelka-varscan-mutect	SPAG17,missense_variant,p.Leu2036Pro,ENST00000336338,NM_206996.2;SPAG17,missense_variant,p.Leu516Pro,ENST00000437255,;SPAG17,non_coding_transcript_exon_variant,,ENST00000492438,;SPAG17,upstream_gene_variant,,ENST00000469128,;SPAG17,downstream_gene_variant,,ENST00000483383,;	G	ENST00000336338	Transcript	missense_variant	6173/6924	6107/6672	2036/2223	L/P	cTg/cCg	rs61729968	1		-1	SPAG17	HGNC	HGNC:26620	protein_coding	YES	CCDS899.1	ENSP00000337804	Q6Q759		UPI00001601FD	NM_206996.2	tolerated(0.21)		44/49		hmmpanther:PTHR21963																	MODERATE	1	SNV	1			1										PASS		rs61729968	.												G	3	3	8	117973459	117973459	A	G	1	0	0	0	0	1	0	0	0	15310	188	7	5		5	SPAG17	1	117973459	Missense_Mutation	SNP	A	C3L-00093_TP	35982851	117973459	130982963	5	3012											
ARNT	0	.	GRCh38	chr1	150836353	150836353	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgggtgcacctgatcataGagtgtgctgccaaaccattc	9	11	10	11	0	2	2	1	1	1	1	3	2	2	2	3	1	4	2	3	1	2	2	rs368471232		C3L-00093_TP	C3L-00093_NB	G	G																c.627C>T	p.=	p.L209L	ENST00000358595	7/22	288	262	26	222	222	0	strelka-varscan-mutect	ARNT,synonymous_variant,p.=,ENST00000358595,NM_001668.3;ARNT,synonymous_variant,p.=,ENST00000354396,NM_001286036.1;ARNT,synonymous_variant,p.=,ENST00000515192,NM_001286035.1;ARNT,synonymous_variant,p.=,ENST00000505755,NM_178427.2,NM_001197325.1;ARNT,non_coding_transcript_exon_variant,,ENST00000468970,;ARNT,downstream_gene_variant,,ENST00000497108,;ARNT,synonymous_variant,p.=,ENST00000471844,;ARNT,downstream_gene_variant,,ENST00000504358,;ARNT,downstream_gene_variant,,ENST00000505979,;ARNT,upstream_gene_variant,,ENST00000512296,;	A	ENST00000358595	Transcript	synonymous_variant	828/4887	627/2370	209/789	L	ctC/ctT	rs368471232	1		-1	ARNT	HGNC	HGNC:700	protein_coding	YES	CCDS970.1	ENSP00000351407	P27540		UPI0000030984	NM_001668.3			7/22		PROSITE_profiles:PS50112,hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF50,Gene3D:3.30.450.20,Pfam_domain:PF00989,SMART_domains:SM00091,Superfamily_domains:SSF55785																	LOW	1	SNV	1			1										PASS		rs368471232	.												A	2	1	8	150836353	150836353	G	A	1	0	0	0	0	0	0	0	1	1107	929	33	3		3	ARNT	1	150836353	Silent	SNP	G	C3L-00093_TP	32862894	150836353	98120069	6	3013											
FLAD1	0	.	GRCh38	chr1	154988192	154988192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccgagtctcagttgtacctGatgaggtagccaccattgca	9	10	11	11	1	1	2	1	2	1	0	2	3	1	2	4	1	3	4	4	1	2	4	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.460G>A	p.Asp154Asn	p.D154N	ENST00000292180	2/7	436	392	44	231	231	0	strelka-varscan-mutect	FLAD1,missense_variant,p.Asp154Asn,ENST00000368433,;FLAD1,missense_variant,p.Asp154Asn,ENST00000292180,NM_025207.4;FLAD1,missense_variant,p.Asp57Asn,ENST00000368432,NM_001184891.1;FLAD1,missense_variant,p.Asp55Asn,ENST00000368431,NM_001184892.1;FLAD1,missense_variant,p.Asp57Asn,ENST00000315144,NM_201398.2;FLAD1,5_prime_UTR_variant,,ENST00000295530,;FLAD1,upstream_gene_variant,,ENST00000368428,;FLAD1,non_coding_transcript_exon_variant,,ENST00000487371,;FLAD1,downstream_gene_variant,,ENST00000492620,;FLAD1,upstream_gene_variant,,ENST00000489992,;FLAD1,upstream_gene_variant,,ENST00000477609,;FLAD1,upstream_gene_variant,,ENST00000481758,;	A	ENST00000292180	Transcript	missense_variant	782/2160	460/1764	154/587	D/N	Gat/Aat		1		1	FLAD1	HGNC	HGNC:24671	protein_coding	YES	CCDS1078.1	ENSP00000292180	Q8NFF5		UPI00000735B2	NM_025207.4	deleterious(0)		2/7		hmmpanther:PTHR23293,hmmpanther:PTHR23293:SF9,Gene3D:3.40.980.10,PIRSF_domain:PIRSF036620,Pfam_domain:PF00994,SMART_domains:SM00852,Superfamily_domains:SSF53218																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	8	154988192	154988192	G	A	1	0	0	0	0	1	0	0	0	5782	1290	45	3		3	FLAD1	1	154988192	Missense_Mutation	SNP	G	C3L-00093_TP	4151839	154988192	93968230	7	3014											
SUCO	0	.	GRCh38	chr1	172553263	172553263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttgttgttatataggatGaaagagagggacctatcaat	13	14	11	3	0	1	2	1	1	0	1	1	5	1	4	1	2	0	3	1	2	6	7	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.181G>A	p.Glu61Lys	p.E61K	ENST00000263688	3/24	84	79	5	70	70	0	strelka-varscan	SUCO,missense_variant,p.Glu61Lys,ENST00000263688,NM_014283.4;SUCO,5_prime_UTR_variant,,ENST00000616058,NM_001282751.1;SUCO,intron_variant,,ENST00000367723,NM_016227.3;SUCO,intron_variant,,ENST00000608151,;SUCO,intron_variant,,ENST00000610051,NM_001282750.1;SUCO,upstream_gene_variant,,ENST00000608804,;SUCO,downstream_gene_variant,,ENST00000608566,;	A	ENST00000263688	Transcript	missense_variant	400/5556	181/3765	61/1254	E/K	Gaa/Aaa		1		1	SUCO	HGNC	HGNC:1240	protein_coding		CCDS1303.1	ENSP00000263688	Q9UBS9		UPI0000070BAC	NM_014283.4	tolerated_low_confidence(0.1)		3/24		hmmpanther:PTHR12953,hmmpanther:PTHR12953:SF0																	MODERATE		SNV	1			1										PASS		.	.												A	3	1	8	172553263	172553263	G	A	1	0	0	0	0	1	0	0	0	15751	1304	45	3		3	SUCO	1	172553263	Missense_Mutation	SNP	G	C3L-00093_TP	17565071	172553263	76403159	8	3015											
KIF14	0	.	GRCh38	chr1	200581236	200581236	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgttttcaatttgctgctGatagcattggcttcctgaat	8	18	8	7	0	1	2	1	2	0	0	2	2	2	2	1	1	3	5	1	1	4	7	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.3300C>T	p.=	p.I1100I	ENST00000367350	20/30	181	167	14	108	108	0	strelka-varscan	KIF14,synonymous_variant,p.=,ENST00000367350,NM_014875.2;KIF14,synonymous_variant,p.=,ENST00000614960,;	A	ENST00000367350	Transcript	synonymous_variant	3739/7274	3300/4947	1100/1648	I	atC/atT		1		-1	KIF14	HGNC	HGNC:19181	protein_coding	YES	CCDS30963.1	ENSP00000356319	Q15058		UPI000012DDA3	NM_014875.2			20/30		hmmpanther:PTHR24115:SF546,hmmpanther:PTHR24115																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	8	200581236	200581236	G	A	1	0	0	0	0	0	0	0	1	8140	1280	45	3		3	KIF14	1	200581236	Silent	SNP	G	C3L-00093_TP	28027973	200581236	48375186	9	3016											
NAV1	0	.	GRCh38	chr1	201812631	201812631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcatctccacaccttccttGagaagcacagcacctcagac	12	8	5	16	0	3	2	2	1	1	2	5	3	4	2	4	0	2	2	4	0	1	2	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.5191G>C	p.Glu1731Gln	p.E1731Q	ENST00000367296	27/30	190	167	23	107	107	0	strelka-varscan	NAV1,missense_variant,p.Glu1731Gln,ENST00000367296,NM_020443.4;NAV1,missense_variant,p.Glu1337Gln,ENST00000367295,NM_001167738.1;NAV1,missense_variant,p.Glu1684Gln,ENST00000367302,;NAV1,downstream_gene_variant,,ENST00000438083,;MIR1231,downstream_gene_variant,,ENST00000408101,;IPO9-AS1,intron_variant,,ENST00000413035,;IPO9-AS1,downstream_gene_variant,,ENST00000421449,;	C	ENST00000367296	Transcript	missense_variant	5611/13091	5191/5634	1731/1877	E/Q	Gag/Cag		1		1	NAV1	HGNC	HGNC:15989	protein_coding	YES	CCDS1414.2	ENSP00000356265	Q8NEY1		UPI00004562D4	NM_020443.4	deleterious(0)		27/30		hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF3																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	8	201812631	201812631	G	C	1	0	0	0	0	1	0	0	0	10192	1291	45	4		4	NAV1	1	201812631	Missense_Mutation	SNP	G	C3L-00093_TP	1231395	201812631	47143791	10	3017											
RASSF5	0	.	GRCh38	chr1	206507686	206507686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcgctatctacagagcctGagcggccccgagctaccgcc	7	5	11	18	5	1	2	0	1	1	1	1	3	1	2	6	1	5	2	6	1	3	3	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.84G>A	p.=	p.L28L	ENST00000579436	1/6	273	257	16	178	178	0	strelka-varscan	RASSF5,synonymous_variant,p.=,ENST00000581503,;RASSF5,synonymous_variant,p.=,ENST00000579436,NM_182663.3;RASSF5,synonymous_variant,p.=,ENST00000580449,NM_182664.3;RP11-534L20.5,downstream_gene_variant,,ENST00000562504,;	A	ENST00000579436	Transcript	synonymous_variant	157/2064	84/1257	28/418	L	ctG/ctA		1		1	RASSF5	HGNC	HGNC:17609	protein_coding	YES	CCDS30998.1	ENSP00000462099	Q8WWW0		UPI0000072CF5	NM_182663.3			1/6		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	8	206507686	206507686	G	A	1	0	0	0	0	0	0	0	1	13250	1277	45	3		3	RASSF5	1	206507686	Silent	SNP	G	C3L-00093_TP	4695055	206507686	42448736	11	3018											
PLXNA2	0	.	GRCh38	chr1	208217814	208217814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtggaaggtgctgaactGaggcatgccggctgctgggg	8	7	19	7	1	0	3	0	2	0	1	0	4	0	4	1	6	4	4	1	6	2	0	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.109C>A	p.Gln37Lys	p.Q37K	ENST00000367033	2/32	335	317	18	227	227	0	strelka-varscan	PLXNA2,missense_variant,p.Gln37Lys,ENST00000367033,NM_025179.3;PLXNA2,upstream_gene_variant,,ENST00000460870,;	T	ENST00000367033	Transcript	missense_variant	867/11444	109/5685	37/1894	Q/K	Cag/Aag		1		-1	PLXNA2	HGNC	HGNC:9100	protein_coding	YES	CCDS31013.1	ENSP00000356000	O75051		UPI000022B239	NM_025179.3	tolerated(0.85)		2/32		PROSITE_profiles:PS51004,hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	8	208217814	208217814	G	T	1	0	0	0	0	1	0	0	0	12226	1299	45	2		2	PLXNA2	1	208217814	Missense_Mutation	SNP	G	C3L-00093_TP	1710128	208217814	40738608	12	3019											
INTS7	0	.	GRCh38	chr1	211975331	211975331	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgaggcaacctgagtCagcaaactctgataaagctc	12	10	9	10	0	3	3	1	3	2	0	4	3	3	3	1	1	4	4	1	1	4	2	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.1650G>T	p.=	p.L550L	ENST00000366994	13/20	374	330	44	270	269	1	strelka-varscan	INTS7,synonymous_variant,p.=,ENST00000366994,NM_015434.3;INTS7,synonymous_variant,p.=,ENST00000366993,NM_001199811.1;INTS7,synonymous_variant,p.=,ENST00000366992,NM_001199812.1;INTS7,synonymous_variant,p.=,ENST00000440600,NM_001199809.1;INTS7,synonymous_variant,p.=,ENST00000475798,;INTS7,3_prime_UTR_variant,,ENST00000469606,;INTS7,non_coding_transcript_exon_variant,,ENST00000461212,;	A	ENST00000366994	Transcript	synonymous_variant	1755/4417	1650/2889	550/962	L	ctG/ctT		1		-1	INTS7	HGNC	HGNC:24484	protein_coding	YES	CCDS1501.1	ENSP00000355961	Q9NVH2		UPI000006FE2E	NM_015434.3			13/20		hmmpanther:PTHR13322,hmmpanther:PTHR13322:SF2																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	8	211975331	211975331	C	A	1	0	0	0	0	0	0	0	1	7686	813	29	2		2	INTS7	1	211975331	Silent	SNP	C	C3L-00093_TP	3757517	211975331	36981091	13	3020											
ANGEL2	0	.	GRCh38	chr1	213008345	213008345	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagtatattataggacatCactgaaaagtcaaacttgtt	17	12	7	5	0	2	1	2	1	0	0	2	3	2	2	0	1	1	2	0	1	8	6	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.507G>A	p.=	p.V169V	ENST00000366962	3/9	316	290	26	228	228	0	strelka-varscan	ANGEL2,synonymous_variant,p.=,ENST00000366962,NM_144567.4;ANGEL2,5_prime_UTR_variant,,ENST00000360506,NM_001300758.1,NM_001300755.1,NM_001300753.1,NM_001300757.1;ANGEL2,5_prime_UTR_variant,,ENST00000535388,;ANGEL2,non_coding_transcript_exon_variant,,ENST00000460337,;ANGEL2,non_coding_transcript_exon_variant,,ENST00000476904,;ANGEL2,non_coding_transcript_exon_variant,,ENST00000481918,;	T	ENST00000366962	Transcript	synonymous_variant	662/4649	507/1635	169/544	V	gtG/gtA		1		-1	ANGEL2	HGNC	HGNC:30534	protein_coding	YES	CCDS1512.1	ENSP00000355929	Q5VTE6		UPI00001D3EF4	NM_144567.4			3/9		hmmpanther:PTHR12121,hmmpanther:PTHR12121:SF27,Gene3D:3.60.10.10,Superfamily_domains:SSF56219																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	8	213008345	213008345	C	T	1	0	0	0	0	0	0	0	1	707	813	29	3		3	ANGEL2	1	213008345	Silent	SNP	C	C3L-00093_TP	1033014	213008345	35948077	14	3021											
NLRP3	0	.	GRCh38	chr1	247424250	247424250	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtgagccttgtgacacaGaggagcctgggggacctgat	9	7	17	8	0	0	4	0	3	0	1	0	7	0	6	3	4	2	0	3	4	0	1	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.807G>A	p.=	p.Q269Q	ENST00000336119	3/9	208	189	19	145	145	0	strelka-varscan	NLRP3,synonymous_variant,p.=,ENST00000366497,NM_001127461.2;NLRP3,synonymous_variant,p.=,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,synonymous_variant,p.=,ENST00000366496,;NLRP3,synonymous_variant,p.=,ENST00000391828,NM_001079821.2;NLRP3,synonymous_variant,p.=,ENST00000348069,NM_183395.2;NLRP3,synonymous_variant,p.=,ENST00000391827,NM_001127462.2;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	A	ENST00000336119	Transcript	synonymous_variant	1553/4170	807/3111	269/1036	Q	caG/caA		1		1	NLRP3	HGNC	HGNC:16400	protein_coding	YES	CCDS1632.1	ENSP00000337383	Q96P20		UPI00001CE3AD	NM_004895.4,NM_001243133.1			3/9		PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4,Pfam_domain:PF05729,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	8	247424250	247424250	G	A	1	0	0	0	0	0	0	0	1	10516	933	33	3		3	NLRP3	1	247424250	Silent	SNP	G	C3L-00093_TP	34415905	247424250	1532172	15	3022											
ABCG5	0	.	GRCh38	chr2	43824400	43824400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaggtttctatttcccgttCcttgctttgggtatccactg	4	17	10	10	1	1	0	0	0	1	0	4	1	4	1	3	3	1	4	3	3	2	7	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.937G>A	p.Glu313Lys	p.E313K	ENST00000260645	8/13	620	568	52	437	437	0	strelka-varscan	ABCG5,missense_variant,p.Glu142Lys,ENST00000405322,;ABCG5,missense_variant,p.Glu313Lys,ENST00000260645,NM_022436.2;ABCG5,intron_variant,,ENST00000486512,;ABCG5,intron_variant,,ENST00000409962,;	T	ENST00000260645	Transcript	missense_variant	1077/2740	937/1956	313/651	E/K	Gaa/Aaa		1		-1	ABCG5	HGNC	HGNC:13886	protein_coding	YES	CCDS1814.1	ENSP00000260645	Q9H222		UPI0000046560	NM_022436.2	tolerated(0.11)		8/13		hmmpanther:PTHR19241:SF193,hmmpanther:PTHR19241																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	8	43824400	43824400	C	T	1	0	0	0	0	1	0	0	0	75	864	30	3		3	ABCG5	2	43824400	Missense_Mutation	SNP	C	C3L-00093_TP		43824400	198369129	16	3023											
PPP3R1	0	.	GRCh38	chr2	68188683	68188683	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagccttttaatttcatcCgcatcaactaaaagcaaaca	15	11	3	12	1	2	0	2	0	0	0	3	0	3	0	3	0	4	2	3	0	6	5	rs140640493		C3L-00093_TP	C3L-00093_NB	C	C																c.51G>A	p.=	p.A17A	ENST00000234310	3/6	103	89	14	76	76	0	strelka-varscan-mutect	PPP3R1,synonymous_variant,p.=,ENST00000234310,NM_000945.3;PPP3R1,synonymous_variant,p.=,ENST00000409752,;PPP3R1,synonymous_variant,p.=,ENST00000409377,;RP11-474G23.1,synonymous_variant,p.=,ENST00000406334,;	T	ENST00000234310	Transcript	synonymous_variant	455/3023	51/513	17/170	A	gcG/gcA	rs140640493	1		-1	PPP3R1	HGNC	HGNC:9317	protein_coding	YES	CCDS46310.1	ENSP00000234310	P63098		UPI00000012AE	NM_000945.3			3/6		Gene3D:1.10.238.10,hmmpanther:PTHR23056,hmmpanther:PTHR23056:SF43,Superfamily_domains:SSF47473																	LOW	1	SNV	1			1										PASS		rs140640493	.												T	2	4	8	68188683	68188683	C	T	1	0	0	0	0	0	0	0	1	12522	639	23	1		1	PPP3R1	2	68188683	Silent	SNP	C	C3L-00093_TP	24364283	68188683	174004846	17	3024											
DPP10	0	.	GRCh38	chr2	115727906	115727906	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggaaaagaagaaataattTttaatgggattgctgactgg	15	12	11	3	0	0	3	0	1	0	2	0	5	0	5	0	3	1	1	0	3	6	5	novel		C3L-00093_TP	C3L-00093_NB	T	T																c.679T>G	p.Phe227Val	p.F227V	ENST00000393147	8/26	170	153	17	161	161	0	strelka-varscan-mutect	DPP10,missense_variant,p.Phe223Val,ENST00000410059,NM_001321910.1,NM_001321911.1,NM_001321914.1,NM_001321905.1,NM_001321906.1,NM_020868.3;DPP10,missense_variant,p.Phe173Val,ENST00000409163,NM_001178036.1,NM_001178037.1;DPP10,missense_variant,p.Phe216Val,ENST00000310323,NM_001004360.3;DPP10,missense_variant,p.Phe227Val,ENST00000393147,NM_001178034.1;DPP10,missense_variant,p.Phe219Val,ENST00000393146,;DPP10,non_coding_transcript_exon_variant,,ENST00000488208,;	G	ENST00000393147	Transcript	missense_variant	1034/2758	679/2403	227/800	F/V	Ttt/Gtt		1		1	DPP10	HGNC	HGNC:20823	protein_coding	YES	CCDS54388.1	ENSP00000376855	Q8N608		UPI00015E0A22	NM_001178034.1	tolerated(0.21)		8/26		hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Gene3D:2.140.10.30,Pfam_domain:PF00930,Superfamily_domains:SSF82171																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	8	115727906	115727906	T	G	1	0	0	0	0	1	0	0	0	4542	1841	64	5		5	DPP10	2	115727906	Missense_Mutation	SNP	T	C3L-00093_TP	47539223	115727906	126465623	18	3025											
SCN2A	0	.	GRCh38	chr2	165323224	165323224	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggcgagccttttcagcttCagaggtcgagcaaaggacat	11	8	13	9	2	2	1	2	0	0	1	3	4	2	2	1	3	3	2	1	3	1	3	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.1740C>G	p.Phe580Leu	p.F580L	ENST00000636071	13/28	287	256	31	189	189	0	strelka-varscan-mutect	SCN2A,missense_variant,p.Phe580Leu,ENST00000636071,;SCN2A,missense_variant,p.Phe448Leu,ENST00000636985,;SCN2A,missense_variant,p.Phe580Leu,ENST00000637266,;SCN2A,missense_variant,p.Phe580Leu,ENST00000375437,NM_001040142.1;SCN2A,missense_variant,p.Phe580Leu,ENST00000283256,NM_021007.2;SCN2A,missense_variant,p.Phe580Leu,ENST00000375427,NM_001040143.1;SCN2A,missense_variant,p.Phe580Leu,ENST00000631182,;SCN2A,non_coding_transcript_exon_variant,,ENST00000635945,;SCN2A,non_coding_transcript_exon_variant,,ENST00000638151,;SCN2A,missense_variant,p.Phe580Leu,ENST00000636384,;SCN2A,missense_variant,p.Phe580Leu,ENST00000636769,;SCN2A,3_prime_UTR_variant,,ENST00000636662,;SCN2A,3_prime_UTR_variant,,ENST00000636135,;SCN2A,3_prime_UTR_variant,,ENST00000637367,;SCN2A,non_coding_transcript_exon_variant,,ENST00000480032,;	G	ENST00000636071	Transcript	missense_variant	2117/9303	1740/6018	580/2005	F/L	ttC/ttG		1		1	SCN2A	HGNC	HGNC:10588	protein_coding	YES	CCDS33313.1	ENSP00000490107			UPI000002A663		deleterious(0.05)		13/28		Pfam_domain:PF11933																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	8	165323224	165323224	C	G	1	0	0	0	0	1	0	0	0	14185	825	29	4		4	SCN2A	2	165323224	Missense_Mutation	SNP	C	C3L-00093_TP	49595318	165323224	76870305	19	3026											
PDK1	0	.	GRCh38	chr2	172566915	172566915	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atattaactctcccgaactaGaacttgaagaactaaatggt	16	11	6	8	1	1	3	0	1	1	2	2	4	1	3	1	1	4	0	1	1	9	5	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.811G>C	p.Glu271Gln	p.E271Q	ENST00000392571	7/12	216	186	30	191	191	0	strelka-varscan-mutect	PDK1,missense_variant,p.Glu251Gln,ENST00000282077,;PDK1,missense_variant,p.Glu251Gln,ENST00000410055,NM_002610.4;PDK1,missense_variant,p.Glu271Gln,ENST00000392571,NM_001278549.1;PDK1,missense_variant,p.Glu169Gln,ENST00000416991,;PDK1,downstream_gene_variant,,ENST00000443353,;PDK1,downstream_gene_variant,,ENST00000439519,;PDK1,3_prime_UTR_variant,,ENST00000431718,;PDK1,upstream_gene_variant,,ENST00000466437,;PDK1,downstream_gene_variant,,ENST00000436490,;	C	ENST00000392571	Transcript	missense_variant	955/1515	811/1371	271/456	E/Q	Gaa/Caa		1		1	PDK1	HGNC	HGNC:8809	protein_coding	YES	CCDS63059.1	ENSP00000376352	Q15118		UPI0000D6BFDD	NM_001278549.1	tolerated(0.17)		7/12		Gene3D:3.30.565.10,hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	8	172566915	172566915	G	C	1	0	0	0	0	1	0	0	0	11763	943	33	4		4	PDK1	2	172566915	Missense_Mutation	SNP	G	C3L-00093_TP	7243691	172566915	69626614	20	3027											
IMPDH2	0	.	GRCh38	chr3	49026375	49026375	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catgcccacccgcagggcatCcacacctgcatcaatgaggt	10	6	9	16	1	1	1	1	1	0	0	2	1	2	1	4	2	2	3	4	2	1	0	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.955G>C	p.Asp319His	p.D319H	ENST00000326739	9/14	204	181	23	134	134	0	strelka-varscan	IMPDH2,missense_variant,p.Asp319His,ENST00000326739,NM_000884.2;IMPDH2,missense_variant,p.Asp251His,ENST00000429182,;QRICH1,downstream_gene_variant,,ENST00000395443,NM_198880.1;QRICH1,downstream_gene_variant,,ENST00000357496,NM_017730.2;QRICH1,downstream_gene_variant,,ENST00000424300,;NDUFAF3,downstream_gene_variant,,ENST00000326925,NM_199069.1;IMPDH2,downstream_gene_variant,,ENST00000442157,;DALRD3,upstream_gene_variant,,ENST00000496568,;NDUFAF3,downstream_gene_variant,,ENST00000395458,NM_199073.1;NDUFAF3,downstream_gene_variant,,ENST00000451378,NM_199070.1;NDUFAF3,downstream_gene_variant,,ENST00000326912,NM_199074.1;RP13-131K19.6,upstream_gene_variant,,ENST00000607245,;DALRD3,upstream_gene_variant,,ENST00000492585,;IMPDH2,non_coding_transcript_exon_variant,,ENST00000462980,;QRICH1,downstream_gene_variant,,ENST00000498392,;QRICH1,downstream_gene_variant,,ENST00000489642,;IMPDH2,downstream_gene_variant,,ENST00000485500,;IMPDH2,downstream_gene_variant,,ENST00000491610,;IMPDH2,upstream_gene_variant,,ENST00000481274,;NDUFAF3,downstream_gene_variant,,ENST00000496152,;NDUFAF3,downstream_gene_variant,,ENST00000480392,;IMPDH2,downstream_gene_variant,,ENST00000496837,;IMPDH2,upstream_gene_variant,,ENST00000466147,;IMPDH2,upstream_gene_variant,,ENST00000484872,;IMPDH2,upstream_gene_variant,,ENST00000472328,;IMPDH2,upstream_gene_variant,,ENST00000463903,;	G	ENST00000326739	Transcript	missense_variant	995/1643	955/1545	319/514	D/H	Gat/Cat		1		-1	IMPDH2	HGNC	HGNC:6053	protein_coding	YES	CCDS2786.1	ENSP00000321584	P12268		UPI000004A47A	NM_000884.2	deleterious(0.01)		9/14		HAMAP:MF_01964,PIRSF_domain:PIRSF000130,Pfam_domain:PF00478,TIGRFAM_domain:TIGR01302,Gene3D:3.20.20.70,SMART_domains:SM01240,Superfamily_domains:SSF51412																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	8	49026375	49026375	C	G	1	0	0	0	0	1	0	0	0	7629	855	30	4		4	IMPDH2	3	49026375	Missense_Mutation	SNP	C	C3L-00093_TP		49026375	149269184	21	3028											
IL17RD	0	.	GRCh38	chr3	57104395	57104395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaggcagctggtcgtctCtgtagtttgctcctgcaaca	8	11	12	10	1	1	0	0	0	1	0	4	1	2	1	1	3	4	6	1	3	3	2	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.760G>A	p.Glu254Lys	p.E254K	ENST00000296318	8/13	191	179	12	152	152	0	strelka-varscan	IL17RD,missense_variant,p.Glu254Lys,ENST00000296318,NM_001318864.1,NM_017563.3;IL17RD,missense_variant,p.Glu110Lys,ENST00000320057,;IL17RD,missense_variant,p.Glu110Lys,ENST00000463523,;IL17RD,downstream_gene_variant,,ENST00000467210,;IL17RD,non_coding_transcript_exon_variant,,ENST00000469841,;	T	ENST00000296318	Transcript	missense_variant	849/8720	760/2220	254/739	E/K	Gag/Aag		1		-1	IL17RD	HGNC	HGNC:17616	protein_coding	YES	CCDS2880.2	ENSP00000296318	Q8NFM7		UPI0000047CC3	NM_001318864.1,NM_017563.3	tolerated(0.53)		8/13		Low_complexity_(Seg):seg,hmmpanther:PTHR15583:SF14,hmmpanther:PTHR15583																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	8	57104395	57104395	C	T	1	0	0	0	0	1	0	0	0	7550	922	32	3		3	IL17RD	3	57104395	Missense_Mutation	SNP	C	C3L-00093_TP	8078020	57104395	141191164	22	3029											
KALRN	0	.	GRCh38	chr3	124268854	124268854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtggatcgaactgcggCtctccctggaggagttcttc	7	10	14	10	2	2	0	0	0	2	0	5	5	2	4	1	5	2	2	1	5	1	2	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.562C>T	p.Leu188Phe	p.L188F	ENST00000240874	5/34	479	420	59	299	299	0	strelka-varscan	KALRN,missense_variant,p.Leu188Phe,ENST00000360013,NM_001024660.3;KALRN,missense_variant,p.Leu166Phe,ENST00000354186,;KALRN,missense_variant,p.Leu188Phe,ENST00000240874,NM_003947.4;KALRN,missense_variant,p.Leu188Phe,ENST00000460856,NM_001322989.1;KALRN,missense_variant,p.Leu216Phe,ENST00000448253,;KALRN,non_coding_transcript_exon_variant,,ENST00000498499,;	T	ENST00000240874	Transcript	missense_variant	719/6537	562/4992	188/1663	L/F	Ctc/Ttc		1		1	KALRN	HGNC	HGNC:4814	protein_coding	YES	CCDS3027.1	ENSP00000240874	O60229		UPI000012C095	NM_003947.4	deleterious(0.01)		5/34		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	8	124268854	124268854	C	T	1	0	0	0	0	1	0	0	0	7884	797	28	3		3	KALRN	3	124268854	Missense_Mutation	SNP	C	C3L-00093_TP	67164459	124268854	74026705	23	3030											
TNIK	0	.	GRCh38	chr3	171085154	171085154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatcctcttcatcttcatCagtgggagacgtctggtata	8	14	8	11	1	7	1	4	0	3	1	8	2	8	1	1	2	0	1	1	2	2	4	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.2962G>A	p.Asp988Asn	p.D988N	ENST00000436636	25/33	145	131	14	104	104	0	strelka-varscan	TNIK,missense_variant,p.Asp988Asn,ENST00000436636,NM_015028.2;TNIK,missense_variant,p.Asp904Asn,ENST00000341852,NM_001161565.1;TNIK,missense_variant,p.Asp980Asn,ENST00000284483,NM_001161560.1;TNIK,missense_variant,p.Asp959Asn,ENST00000357327,NM_001161561.1;TNIK,missense_variant,p.Asp951Asn,ENST00000470834,NM_001161562.1;TNIK,missense_variant,p.Asp933Asn,ENST00000488470,NM_001161563.1;TNIK,missense_variant,p.Asp925Asn,ENST00000460047,NM_001161564.1;TNIK,missense_variant,p.Asp896Asn,ENST00000475336,NM_001161566.1;TNIK,non_coding_transcript_exon_variant,,ENST00000496492,;TNIK,upstream_gene_variant,,ENST00000484051,;	T	ENST00000436636	Transcript	missense_variant	3307/6970	2962/4083	988/1360	D/N	Gat/Aat		1		-1	TNIK	HGNC	HGNC:30765	protein_coding	YES	CCDS46956.1	ENSP00000399511	Q9UKE5		UPI000003ABDF	NM_015028.2	tolerated(0.35)		25/33		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	8	171085154	171085154	C	T	1	0	0	0	0	1	0	0	0	16786	826	29	3		3	TNIK	3	171085154	Missense_Mutation	SNP	C	C3L-00093_TP	46816300	171085154	27210405	24	3031											
ACAP2	0	.	GRCh38	chr3	195320750	195320750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcgtttgaacagatatccttCcataactatgccatttgcag	11	14	6	10	1	0	2	0	1	0	1	3	2	2	2	3	0	4	2	3	0	4	6	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.808G>A	p.Glu270Lys	p.E270K	ENST00000326793	10/23	168	155	13	143	143	0	strelka-varscan	ACAP2,missense_variant,p.Glu270Lys,ENST00000326793,NM_012287.5;ACAP2,missense_variant,p.Glu269Lys,ENST00000618471,;ACAP2,missense_variant,p.Glu270Lys,ENST00000635383,;ACAP2,missense_variant,p.Glu145Lys,ENST00000439758,;	T	ENST00000326793	Transcript	missense_variant	1039/7160	808/2337	270/778	E/K	Gaa/Aaa		1		-1	ACAP2	HGNC	HGNC:16469	protein_coding	YES	CCDS33924.1	ENSP00000324287	Q15057		UPI0000141A1A	NM_012287.5	deleterious(0)		10/23		PROSITE_profiles:PS50003,hmmpanther:PTHR23180:SF241,hmmpanther:PTHR23180,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729,Superfamily_domains:SSF103657																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	8	195320750	195320750	C	T	1	0	0	0	0	1	0	0	0	162	864	30	3		3	ACAP2	3	195320750	Missense_Mutation	SNP	C	C3L-00093_TP	24235596	195320750	2974809	25	3032											
LRRC66	0	.	GRCh38	chr4	51995604	51995604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgctccttcccagagttCtatcaggaattacggtggcg	7	13	10	11	2	3	1	1	0	2	1	5	2	5	2	2	3	2	2	2	3	3	5			C3L-00093_TP	C3L-00093_NB	C	C																c.1418G>C	p.Arg473Thr	p.R473T	ENST00000343457	4/4	273	237	36	178	178	0	strelka-varscan	LRRC66,missense_variant,p.Arg473Thr,ENST00000343457,NM_001024611.1;	G	ENST00000343457	Transcript	missense_variant	1425/3327	1418/2643	473/880	R/T	aGa/aCa	COSM4699160	1		-1	LRRC66	HGNC	HGNC:34299	protein_coding	YES	CCDS43229.1	ENSP00000341944	Q68CR7		UPI0000425C5B	NM_001024611.1	tolerated(0.11)		4/4													1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	8	51995604	51995604	C	G	1	0	0	0	0	1	0	0	0	8914	913	32	4		4	LRRC66	4	51995604	Missense_Mutation	SNP	C	C3L-00093_TP		51995604	138218951	26	3033											
PDGFRA	0	.	GRCh38	chr4	54285470	54285470	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttgcccgaggaatggagtTtttggcttcaaaaaatgtaa	13	12	11	5	1	1	0	1	0	0	0	1	3	1	2	1	3	1	4	1	3	5	5	novel		C3L-00093_TP	C3L-00093_NB	T	T																c.2423T>A	p.Phe808Tyr	p.F808Y	ENST00000257290	17/23	494	423	71	362	362	0	strelka-varscan	PDGFRA,missense_variant,p.Phe808Tyr,ENST00000257290,NM_006206.4;RP11-231C18.3,missense_variant,p.Phe568Tyr,ENST00000507166,;PDGFRA,downstream_gene_variant,,ENST00000509490,;PDGFRA,downstream_gene_variant,,ENST00000509092,;PDGFRA,downstream_gene_variant,,ENST00000507536,;	A	ENST00000257290	Transcript	missense_variant	2754/6576	2423/3270	808/1089	F/Y	tTt/tAt		1		1	PDGFRA	HGNC	HGNC:8803	protein_coding	YES	CCDS3495.1	ENSP00000257290	P16234		UPI0000131793	NM_006206.4	deleterious(0)		17/23		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	8	54285470	54285470	T	A	1	0	0	0	0	1	0	0	0	11749	1841	64	4		4	PDGFRA	4	54285470	Missense_Mutation	SNP	T	C3L-00093_TP	2289866	54285470	135929085	27	3034											
FAT4	0	.	GRCh38	chr4	125316769	125316769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcgcccacctaccccaccGaagtgcgagtgctggtgcgg	6	5	14	16	5	0	0	0	0	0	0	0	2	0	0	5	2	4	1	5	2	2	1	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.358G>A	p.Glu120Lys	p.E120K	ENST00000394329	1/17	286	265	21	170	170	0	strelka-varscan-mutect	FAT4,missense_variant,p.Glu120Lys,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;	A	ENST00000394329	Transcript	missense_variant	371/16123	358/14946	120/4981	E/K	Gaa/Aaa		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	deleterious(0.01)		1/17		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		rs1165902550	.												A	3	1	8	125316769	125316769	G	A	1	0	0	0	0	1	0	0	0	5552	1059	37	1		1	FAT4	4	125316769	Missense_Mutation	SNP	G	C3L-00093_TP	71031299	125316769	64897786	28	3035											
FAM160A1	0	.	GRCh38	chr4	151586691	151586691	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttccctgcctacaaagctAgaagagaaaggcgaggaatg	14	7	11	9	1	1	2	0	0	1	2	2	5	2	3	2	2	3	1	2	2	6	3	novel		C3L-00093_TP	C3L-00093_NB	A	A																c.783A>T	p.=	p.L261L	ENST00000435205	6/14	113	104	9	76	76	0	strelka-varscan-mutect	FAM160A1,synonymous_variant,p.=,ENST00000435205,NM_001109977.1;FAM160A1,synonymous_variant,p.=,ENST00000505231,;	T	ENST00000435205	Transcript	synonymous_variant	1358/4576	783/3123	261/1040	L	ctA/ctT		1		1	FAM160A1	HGNC	HGNC:34237	protein_coding	YES	CCDS47146.1	ENSP00000413196	Q05DH4		UPI00015DE720	NM_001109977.1			6/14		hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF6,Pfam_domain:PF10257																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	8	151586691	151586691	A	T	1	0	0	0	0	0	0	0	1	5317	407	15	4		4	FAM160A1	4	151586691	Silent	SNP	A	C3L-00093_TP	26269922	151586691	38627864	29	3036											
SLC45A2	0	.	GRCh38	chr5	33963919	33963919	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgagcaccaatgcagagaaGaagaacatgacctggaattc	16	6	11	8	0	0	5	0	2	0	3	1	7	0	6	2	1	3	2	2	1	5	1	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.660C>G	p.Phe220Leu	p.F220L	ENST00000296589	3/7	444	408	36	273	273	0	strelka-varscan-mutect	SLC45A2,missense_variant,p.Phe220Leu,ENST00000382102,NM_001012509.3;SLC45A2,missense_variant,p.Phe220Leu,ENST00000296589,NM_016180.4;SLC45A2,missense_variant,p.Phe45Leu,ENST00000510600,;SLC45A2,intron_variant,,ENST00000509381,NM_001297417.2;SLC45A2,non_coding_transcript_exon_variant,,ENST00000505056,;	C	ENST00000296589	Transcript	missense_variant	807/1772	660/1593	220/530	F/L	ttC/ttG		1		-1	SLC45A2	HGNC	HGNC:16472	protein_coding	YES	CCDS3901.1	ENSP00000296589	Q9UMX9	A0A076YIB8	UPI00001AEC19	NM_016180.4	tolerated(0.29)		3/7		Transmembrane_helices:TMhelix,hmmpanther:PTHR19432,hmmpanther:PTHR19432:SF34,Gene3D:1.20.1250.20,Pfam_domain:PF13347,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	8	33963919	33963919	G	C	1	0	0	0	0	1	0	0	0	14918	933	33	4		4	SLC45A2	5	33963919	Missense_Mutation	SNP	G	C3L-00093_TP		33963919	147574340	30	3037											
MCIDAS	0	.	GRCh38	chr5	55220555	55220555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagtctgtgcgcagcccccgGaaggcgccatgcaggttccc	6	6	13	16	3	1	0	0	0	1	0	2	1	2	1	4	3	3	3	4	3	1	1	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.969C>T	p.=	p.F323F	ENST00000513312	7/7	334	308	26	165	165	0	strelka-varscan	MCIDAS,synonymous_variant,p.=,ENST00000513312,NM_001190787.1;MCIDAS,downstream_gene_variant,,ENST00000515336,;MCIDAS,3_prime_UTR_variant,,ENST00000513468,;	A	ENST00000513312	Transcript	synonymous_variant	1146/1736	969/1158	323/385	F	ttC/ttT		1		-1	MCIDAS	HGNC	HGNC:40050	protein_coding	YES	CCDS54853.1	ENSP00000426359	D6RGH6		UPI000020C760	NM_001190787.1			7/7		hmmpanther:PTHR13372,hmmpanther:PTHR13372:SF3																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	8	55220555	55220555	G	A	1	0	0	0	0	0	0	0	1	9315	1165	41	3		3	MCIDAS	5	55220555	Silent	SNP	G	C3L-00093_TP	21256636	55220555	126317704	31	3038											
SLC12A2	0	.	GRCh38	chr5	128084242	128084242	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgggcgggccgctgctgcGgcggcggcggcggcggcggc	0	2	24	15	10	0	0	0	0	0	0	0	0	0	0	2	9	2	2	2	9	0	0	rs769929100		C3L-00093_TP	C3L-00093_NB	G	G																c.288G>T	p.=	p.A96A	ENST00000262461	1/27	74	70	4	58	58	0	strelka-mutect	SLC12A2,synonymous_variant,p.=,ENST00000262461,NM_001046.2;SLC12A2,synonymous_variant,p.=,ENST00000343225,NM_001256461.1;SLC12A2,synonymous_variant,p.=,ENST00000628403,;LINC01184,upstream_gene_variant,,ENST00000501702,;LINC01184,upstream_gene_variant,,ENST00000501652,;LINC01184,upstream_gene_variant,,ENST00000499346,;LINC01184,upstream_gene_variant,,ENST00000508878,;LINC01184,upstream_gene_variant,,ENST00000501173,;LINC01184,upstream_gene_variant,,ENST00000514573,;LINC01184,upstream_gene_variant,,ENST00000606251,;LINC01184,upstream_gene_variant,,ENST00000514409,;LINC01184,upstream_gene_variant,,ENST00000508353,;SLC12A2,synonymous_variant,p.=,ENST00000509205,;	T	ENST00000262461	Transcript	synonymous_variant	477/6885	288/3639	96/1212	A	gcG/gcT	rs769929100,COSM5463374	1		1	SLC12A2	HGNC	HGNC:10911	protein_coding	YES	CCDS4144.1	ENSP00000262461	P55011	Q53ZR1	UPI000013541A	NM_001046.2			1/27		Low_complexity_(Seg):seg											0,1						LOW	1	SNV	1		0,1	1										PASS		rs769929100	.												T	2	4	8	128084242	128084242	G	T	1	0	0	0	0	0	0	0	1	14648	1103	39	1		1	SLC12A2	5	128084242	Silent	SNP	G	C3L-00093_TP	72863687	128084242	53454017	32	3039											
RAD50	0	.	GRCh38	chr5	132579432	132579432	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattttctgtcatcaagaaGattctaattggcctttaagt	11	17	6	7	0	5	2	3	0	2	2	5	2	5	2	1	1	0	0	1	1	4	7	rs770695705		C3L-00093_TP	C3L-00093_NB	G	G																c.481G>C	p.Asp161His	p.D161H	ENST00000378823	4/25	282	260	22	172	172	0	strelka-varscan-mutect	RAD50,missense_variant,p.Asp161His,ENST00000378823,NM_005732.3;RAD50,missense_variant,p.Asp161His,ENST00000453394,;RAD50,missense_variant,p.Asp62His,ENST00000416135,;RAD50,missense_variant,p.Asp161His,ENST00000423956,;RAD50,3_prime_UTR_variant,,ENST00000533482,;RAD50,upstream_gene_variant,,ENST00000487596,;	C	ENST00000378823	Transcript	missense_variant	868/8306	481/3939	161/1312	D/H	Gat/Cat	rs770695705	1		1	RAD50	HGNC	HGNC:9816	protein_coding	YES	CCDS34233.1	ENSP00000368100	Q92878		UPI000006E9ED	NM_005732.3	deleterious(0)		4/25		Gene3D:3.40.50.300,Pfam_domain:PF13476,hmmpanther:PTHR18867,hmmpanther:PTHR18867:SF12,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00606																	MODERATE	1	SNV	1			1										PASS		rs770695705	.												C	3	2	8	132579432	132579432	G	C	1	0	0	0	0	1	0	0	0	13145	942	33	4		4	RAD50	5	132579432	Missense_Mutation	SNP	G	C3L-00093_TP	4495190	132579432	48958827	33	3040											
SIL1	0	.	GRCh38	chr5	139050992	139050992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catattggagttttgcctctCtttccccagtctgaagattc	7	16	7	11	0	2	2	0	1	2	1	5	3	3	3	3	1	1	1	3	1	2	6			C3L-00093_TP	C3L-00093_NB	C	C																c.299G>A	p.Arg100Lys	p.R100K	ENST00000394817	4/10	643	589	54	405	405	0	strelka-varscan-mutect	SIL1,missense_variant,p.Arg100Lys,ENST00000394817,NM_022464.4;SIL1,missense_variant,p.Arg100Lys,ENST00000265195,NM_001037633.1;SIL1,missense_variant,p.Arg107Lys,ENST00000509534,;SIL1,missense_variant,p.Arg100Lys,ENST00000508639,;SIL1,missense_variant,p.Arg110Lys,ENST00000507002,;SIL1,missense_variant,p.Arg100Lys,ENST00000513453,;SIL1,missense_variant,p.Arg110Lys,ENST00000505830,;SIL1,downstream_gene_variant,,ENST00000505353,;CTB-46B19.2,intron_variant,,ENST00000512875,;SIL1,non_coding_transcript_exon_variant,,ENST00000503732,;	T	ENST00000394817	Transcript	missense_variant	439/1923	299/1386	100/461	R/K	aGa/aAa	COSM5232714	1		-1	SIL1	HGNC	HGNC:24624	protein_coding	YES	CCDS4209.1	ENSP00000378294	Q9H173	A0A0S2Z6B4	UPI000003ED21	NM_022464.4	tolerated(0.16)		4/10		hmmpanther:PTHR19316:SF6,hmmpanther:PTHR19316											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	8	139050992	139050992	C	T	1	0	0	0	0	1	0	0	0	14585	913	32	3		3	SIL1	5	139050992	Missense_Mutation	SNP	C	C3L-00093_TP	6471560	139050992	42487267	34	3041											
SLC23A1	0	.	GRCh38	chr5	139372233	139372233	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagctttccactgtatcaGaccacgctcctctgggctcc	6	10	7	18	1	2	1	1	0	1	1	5	1	5	1	5	1	1	4	5	1	1	2	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.1582C>T	p.=	p.L528L	ENST00000353963	14/15	201	184	17	100	100	0	strelka-varscan-mutect	SLC23A1,synonymous_variant,p.=,ENST00000353963,NM_152685.3;SLC23A1,synonymous_variant,p.=,ENST00000348729,NM_005847.4;PAIP2,downstream_gene_variant,,ENST00000394795,;PAIP2,downstream_gene_variant,,ENST00000265192,NM_016480.4;PAIP2,downstream_gene_variant,,ENST00000510080,NM_001033112.2;PAIP2,downstream_gene_variant,,ENST00000511706,;CTB-43P18.1,upstream_gene_variant,,ENST00000503553,;PAIP2,downstream_gene_variant,,ENST00000511381,;	A	ENST00000353963	Transcript	synonymous_variant	1621/2303	1582/1809	528/602	L	Ctg/Ttg		1		-1	SLC23A1	HGNC	HGNC:10974	protein_coding	YES	CCDS4213.1	ENSP00000302851	Q9UHI7		UPI000002B46B	NM_152685.3			14/15		hmmpanther:PTHR11119,hmmpanther:PTHR11119:SF21																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	8	139372233	139372233	G	A	1	0	0	0	0	0	0	0	1	14728	933	33	3		3	SLC23A1	5	139372233	Silent	SNP	G	C3L-00093_TP	321241	139372233	42166026	35	3042											
PCDHA9	0	.	GRCh38	chr5	140850124	140850124	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgcgacgcgggcgtgccGcctctgggcagcaacgtgac	5	4	17	15	8	1	1	0	1	1	0	1	2	1	1	2	2	3	2	2	2	1	0			C3L-00093_TP	C3L-00093_NB	G	G																c.1629G>A	p.=	p.P543P	ENST00000532602	1/4	824	752	72	509	509	0	varscan-mutect	PCDHA9,synonymous_variant,p.=,ENST00000378122,NM_014005.4;PCDHA9,synonymous_variant,p.=,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.19,upstream_gene_variant,,ENST00000623320,;	A	ENST00000532602	Transcript	synonymous_variant	2662/6293	1629/2853	543/950	P	ccG/ccA	COSM262781,COSM262782	1		1	PCDHA9	HGNC	HGNC:8675	protein_coding	YES	CCDS54920.1	ENSP00000436042	Q9Y5H5		UPI00001273D1	NM_031857.1			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1321633502	.												A	2	1	8	140850124	140850124	G	A	1	0	0	0	0	0	0	0	1	11618	1074	38	1		1	PCDHA9	5	140850124	Silent	SNP	G	C3L-00093_TP	1477891	140850124	40688135	36	3043											
PCDHB14	0	.	GRCh38	chr5	141224472	141224472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctataaatattcaggcaacaGatggtgggggtctttcagga	12	11	12	6	0	3	1	2	0	1	1	3	2	3	2	0	5	1	1	0	5	5	5	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.967G>C	p.Asp323His	p.D323H	ENST00000239449	1/1	143	131	12	108	108	0	strelka-varscan-mutect	PCDHB14,missense_variant,p.Asp323His,ENST00000239449,NM_018934.3;PCDHB14,missense_variant,p.Asp170His,ENST00000624896,;CH17-140K24.8,intron_variant,,ENST00000624396,;CH17-140K24.2,intron_variant,,ENST00000624192,;	C	ENST00000239449	Transcript	missense_variant	1541/4828	967/2397	323/798	D/H	Gat/Cat		1		1	PCDHB14	HGNC	HGNC:8685	protein_coding	YES	CCDS4256.1	ENSP00000239449	Q9Y5E9		UPI00001273E7	NM_018934.3	deleterious_low_confidence(0)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												C	3	2	8	141224472	141224472	G	C	1	0	0	0	0	1	0	0	0	11626	942	33	4		4	PCDHB14	5	141224472	Missense_Mutation	SNP	G	C3L-00093_TP	374348	141224472	40313787	37	3044											
PCDHGA5	0	.	GRCh38	chr5	141365200	141365200	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaagaaaaaatttcggaGactttccaacttgattccaa	17	10	7	7	1	0	4	0	1	0	3	3	6	2	4	2	1	1	0	2	1	7	4	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.870G>A	p.=	p.E290E	ENST00000518069	1/4	259	235	24	149	149	0	strelka-varscan-mutect	PCDHGA5,synonymous_variant,p.=,ENST00000518069,NM_018918.2;PCDHGA5,synonymous_variant,p.=,ENST00000611914,NM_032054.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB2,downstream_gene_variant,,ENST00000622527,NM_032096.1;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000518069	Transcript	synonymous_variant	870/4602	870/2796	290/931	E	gaG/gaA		1		1	PCDHGA5	HGNC	HGNC:8703	protein_coding	YES	CCDS54925.1	ENSP00000429834	Q9Y5G8		UPI000006CD9F	NM_018918.2			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	8	141365200	141365200	G	A	1	0	0	0	0	0	0	0	1	11644	933	33	3		3	PCDHGA5	5	141365200	Silent	SNP	G	C3L-00093_TP	140728	141365200	40173059	38	3045											
GRPEL2	0	.	GRCh38	chr5	149349707	149349707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacataaggaggcgaacccaGagatgtgtggaagacgccaa	16	4	13	8	2	0	2	0	0	0	2	0	6	0	4	2	3	2	0	2	3	5	1	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.285G>C	p.Gln95His	p.Q95H	ENST00000329271	3/4	253	234	19	195	195	0	strelka-varscan-mutect	GRPEL2,missense_variant,p.Gln95His,ENST00000329271,NM_152407.3;GRPEL2,missense_variant,p.Gln95His,ENST00000513661,;GRPEL2,intron_variant,,ENST00000416916,;GRPEL2-AS1,intron_variant,,ENST00000521295,;GRPEL2,non_coding_transcript_exon_variant,,ENST00000507562,;	C	ENST00000329271	Transcript	missense_variant	395/4089	285/678	95/225	Q/H	caG/caC		1		1	GRPEL2	HGNC	HGNC:21060	protein_coding	YES	CCDS4295.1	ENSP00000329558	Q8TAA5		UPI000004A0F1	NM_152407.3	deleterious(0.02)		3/4		HAMAP:MF_01151,hmmpanther:PTHR21237,hmmpanther:PTHR21237:SF10,Pfam_domain:PF01025,Gene3D:1dkgA01,Superfamily_domains:0053405,Prints_domain:PR00773																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	8	149349707	149349707	G	C	1	0	0	0	0	1	0	0	0	6689	933	33	4		4	GRPEL2	5	149349707	Missense_Mutation	SNP	G	C3L-00093_TP	7984507	149349707	32188552	39	3046											
FAM196B	0	.	GRCh38	chr5	169882744	169882744	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctctgaagtttggtctcactCcttgaaagagaggatgggag	10	11	13	7	0	2	3	1	2	2	1	4	6	3	5	1	3	0	1	1	3	2	2			C3L-00093_TP	C3L-00093_NB	C	C																c.1155G>A	p.=	p.R385R	ENST00000377365	2/4	315	296	19	187	187	0	strelka-varscan-mutect	FAM196B,synonymous_variant,p.=,ENST00000377365,NM_001129891.1;DOCK2,intron_variant,,ENST00000256935,NM_004946.2;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;	T	ENST00000377365	Transcript	synonymous_variant	2537/2999	1155/1608	385/535	R	agG/agA	COSM1435934	1		-1	FAM196B	HGNC	HGNC:37271	protein_coding	YES	CCDS47336.1	ENSP00000366582	A6NMK8		UPI0000480500	NM_001129891.1			2/4		Pfam_domain:PF15265,hmmpanther:PTHR28682,hmmpanther:PTHR28682:SF2											1						LOW		SNV	2		1	1										PASS		rs1218956347	.												T	2	4	8	169882744	169882744	C	T	1	0	0	0	0	0	0	0	1	5374	854	30	3		3	FAM196B	5	169882744	Silent	SNP	C	C3L-00093_TP	20533037	169882744	11655515	40	3047											
MOG	0	.	GRCh38	chr6	29659462	29659462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccccttctctagggtggttCatctctacagaaatggcaag	9	11	9	12	0	3	1	1	0	2	1	5	1	3	1	2	3	1	2	2	3	4	4	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.232C>T	p.His78Tyr	p.H78Y	ENST00000376898	2/8	308	282	26	186	186	0	strelka-varscan-mutect	MOG,missense_variant,p.His78Tyr,ENST00000376894,;MOG,missense_variant,p.His78Tyr,ENST00000376917,NM_206809.3;MOG,missense_variant,p.His78Tyr,ENST00000431798,NM_206812.3;MOG,missense_variant,p.His78Tyr,ENST00000376898,NM_002433.4;MOG,missense_variant,p.His78Tyr,ENST00000494692,NM_206811.3;MOG,missense_variant,p.His78Tyr,ENST00000396701,NM_206810.3;MOG,missense_variant,p.His78Tyr,ENST00000376891,NM_001008229.2;MOG,missense_variant,p.His78Tyr,ENST00000396704,NM_001008228.2;MOG,missense_variant,p.His78Tyr,ENST00000416766,;MOG,intron_variant,,ENST00000376888,NM_206814.5;MOG,intron_variant,,ENST00000490427,NM_001170418.1;MOG,intron_variant,,ENST00000483013,;MOG,non_coding_transcript_exon_variant,,ENST00000469603,;MOG,non_coding_transcript_exon_variant,,ENST00000476244,;MOG,missense_variant,p.His49Tyr,ENST00000376889,;MOG,missense_variant,p.His49Tyr,ENST00000485211,;MOG,3_prime_UTR_variant,,ENST00000376903,;MOG,non_coding_transcript_exon_variant,,ENST00000469353,;	T	ENST00000376898	Transcript	missense_variant	232/1027	232/759	78/252	H/Y	Cat/Tat		1		1	MOG	HGNC	HGNC:7197	protein_coding	YES	CCDS4667.1	ENSP00000366095	Q16653		UPI00004573E8	NM_002433.4	tolerated(0.05)		2/8		PROSITE_profiles:PS50835,hmmpanther:PTHR24100,Gene3D:2.60.40.10,PIRSF_domain:PIRSF016522,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	8	29659462	29659462	C	T	1	0	0	0	0	1	0	0	0	9656	826	29	3		3	MOG	6	29659462	Missense_Mutation	SNP	C	C3L-00093_TP		29659462	141146517	41	3048											
USP49	0	.	GRCh38	chr6	41806332	41806332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaggcagccgggcccgcgtCgcggggcgtgtgcaggagca	5	3	20	13	7	0	0	0	0	0	0	1	2	0	1	2	5	3	3	2	5	0	0	rs548556992		C3L-00093_TP	C3L-00093_NB	C	C																c.652G>A	p.Asp218Asn	p.D218N	ENST00000394253	3/7	87	81	6	59	59	0	strelka-mutect	USP49,missense_variant,p.Asp218Asn,ENST00000394253,NM_001286554.1;USP49,missense_variant,p.Asp218Asn,ENST00000373006,NM_018561.4;USP49,missense_variant,p.Asp218Asn,ENST00000373010,;USP49,downstream_gene_variant,,ENST00000423567,;USP49,upstream_gene_variant,,ENST00000448078,;	T	ENST00000394253	Transcript	missense_variant	982/9034	652/2067	218/688	D/N	Gac/Aac	rs548556992,COSM4811987,COSM596684	1		-1	USP49	HGNC	HGNC:20078	protein_coding	YES	CCDS69111.1	ENSP00000377797	Q70CQ1		UPI000020DCE0	NM_001286554.1	tolerated(0.49)		3/7													0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs548556992	.												T	3	4	8	41806332	41806332	C	T	1	0	0	0	0	1	0	0	0	17623	884	31	1		1	USP49	6	41806332	Missense_Mutation	SNP	C	C3L-00093_TP	12146870	41806332	128999647	42	3049											
CUL7	0	.	GRCh38	chr6	43048397	43048398	+	Frame_Shift_Ins	INS	-	-	A																															ggctctgcatcagtgccaggINSaagggctgcggctgccgctg																								novel		C3L-00093_TP	C3L-00093_NB	-	-																c.2249dupT	p.Leu751ProfsTer13	p.L751Pfs*13	ENST00000535468	8/26	354	299	55	273	273	0	sindel-varindel-pindel	CUL7,frameshift_variant,p.Leu751ProfsTer13,ENST00000535468,NM_001168370.1;CUL7,frameshift_variant,p.Leu667ProfsTer13,ENST00000265348,NM_014780.4;CUL7,upstream_gene_variant,,ENST00000478630,;KLC4,intron_variant,,ENST00000467906,;	A	ENST00000535468	Transcript	frameshift_variant	2336-2337/5504	2249-2250/5349	750/1782	F/FX	ttc/ttTc		1		-1	CUL7	HGNC	HGNC:21024	protein_coding	YES	CCDS55003.1	ENSP00000438788	Q14999		UPI0001BE8116	NM_001168370.1			8/26		Low_complexity_(Seg):seg,hmmpanther:PTHR22771,hmmpanther:PTHR22771:SF3,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	HIGH	1	insertion	2			1										PASS		.	.												A	7	5	8	43048397	43048397	-	A	1	0	1	1	0	0	0	0	0	3870	1165	41	0		0	CUL7	6	43048397	Frame_Shift_Ins	INS	-	C3L-00093_TP	1242065	43048397	127757582	43	3050											
ICK	0	.	GRCh38	chr6	53013683	53013683	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gactgtggatgcttgttgtgGagggatgggaaaagcaacgg	10	9	18	4	1	0	0	0	0	0	0	0	5	0	4	0	5	3	3	0	5	3	2	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.1131C>G	p.=	p.L377L	ENST00000356971	10/15	213	195	18	131	131	0	strelka-varscan-mutect	ICK,synonymous_variant,p.=,ENST00000356971,NM_016513.4;ICK,synonymous_variant,p.=,ENST00000350082,NM_014920.3;	C	ENST00000356971	Transcript	synonymous_variant	1621/6227	1131/1899	377/632	L	ctC/ctG		1		-1	ICK	HGNC	HGNC:21219	protein_coding	YES	CCDS4949.1	ENSP00000349458	Q9UPZ9	A0A024RD59	UPI0000073DE8	NM_016513.4			10/15																			LOW	1	SNV	2			1										PASS		.	.												C	2	2	8	53013683	53013683	G	C	1	0	0	0	0	0	0	0	1	7386	1161	41	4		4	ICK	6	53013683	Silent	SNP	G	C3L-00093_TP	9965286	53013683	117792296	44	3051											
BMP5	0	.	GRCh38	chr6	55874616	55874616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attggtcatggcattgtagaGatccagcataaagagaggtg	13	10	13	5	0	1	2	1	0	0	2	2	4	2	2	1	3	1	3	1	3	3	4	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.250C>T	p.Leu84Phe	p.L84F	ENST00000370830	1/7	524	479	45	359	359	0	strelka-varscan-mutect	BMP5,missense_variant,p.Leu84Phe,ENST00000370830,NM_021073.2;	A	ENST00000370830	Transcript	missense_variant	949/3952	250/1365	84/454	L/F	Ctc/Ttc		1		-1	BMP5	HGNC	HGNC:1072	protein_coding	YES	CCDS4958.1	ENSP00000359866	P22003	M9VUD0	UPI0000126A2C	NM_021073.2	deleterious(0)		1/7		Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF139																	MODERATE	1	SNV	1			1										PASS		rs1220935838	.												A	3	1	8	55874616	55874616	G	A	1	0	0	0	0	1	0	0	0	1618	942	33	3		3	BMP5	6	55874616	Missense_Mutation	SNP	G	C3L-00093_TP	2860933	55874616	114931363	45	3052											
MDN1	0	.	GRCh38	chr6	89790200	89790200	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctggactttgagaagctGaggaggctttgttctacctg	9	12	13	7	0	1	2	0	2	1	1	1	5	1	4	1	3	3	4	1	3	3	4	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.1057C>T	p.Gln353Ter	p.Q353*	ENST00000369393	6/102	320	301	19	197	197	0	strelka-varscan-mutect	MDN1,stop_gained,p.Gln353Ter,ENST00000369393,NM_014611.2;MDN1,stop_gained,p.Gln353Ter,ENST00000629399,;MDN1,stop_gained,p.Gln353Ter,ENST00000439638,;	A	ENST00000369393	Transcript	stop_gained	1173/18413	1057/16791	353/5596	Q/*	Cag/Tag		1		-1	MDN1	HGNC	HGNC:18302	protein_coding	YES	CCDS5024.1	ENSP00000358400	Q9NU22		UPI000013C4B8	NM_014611.2			6/102		Gene3D:3.40.50.300,Pfam_domain:PF07728,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF64,SMART_domains:SM00382,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	8	89790200	89790200	G	A	1	0	0	0	0	0	1	0	0	9353	1299	45	3		3	MDN1	6	89790200	Nonsense_Mutation	SNP	G	C3L-00093_TP	33915584	89790200	81015779	46	3053											
C6orf203	0	.	GRCh38	chr6	107039980	107039980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcccagggcttttactatctCcagaatgtatttttcctttt	7	19	5	10	0	1	1	0	0	1	1	4	1	3	1	3	1	1	2	3	1	4	8			C3L-00093_TP	C3L-00093_NB	C	C																c.235C>G	p.Pro79Ala	p.P79A	ENST00000625458	3/5	373	341	32	241	241	0	strelka-varscan-mutect	C6orf203,missense_variant,p.Pro74Ala,ENST00000405204,NM_001142468.2;C6orf203,missense_variant,p.Pro79Ala,ENST00000625458,NM_001142470.2;C6orf203,missense_variant,p.Pro74Ala,ENST00000311381,NM_016487.4;C6orf203,upstream_gene_variant,,ENST00000489790,;	G	ENST00000625458	Transcript	missense_variant	544/1146	235/738	79/245	P/A	Cca/Gca	COSM5697989	1		1	C6orf203	HGNC	HGNC:17971	protein_coding	YES	CCDS78167.1	ENSP00000485698		A0A0D9SEI0	UPI0000D4EA45	NM_001142470.2	deleterious(0.03)		3/5		hmmpanther:PTHR13633,hmmpanther:PTHR13633:SF3											1						MODERATE	1	SNV	3		1	1										PASS		.	.												G	3	3	8	107039980	107039980	C	G	1	0	0	0	0	1	0	0	0	2123	855	30	4		4	C6orf203	6	107039980	Missense_Mutation	SNP	C	C3L-00093_TP	17249780	107039980	63765999	47	3054											
TRDN	0	.	GRCh38	chr6	123377899	123377899	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttctttcttttcctgttCtgaaacatattattattgtt	7	25	3	6	0	3	1	0	1	3	0	4	1	4	1	1	0	1	2	1	0	4	11	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.1187-1G>C		p.X396_splice	ENST00000334268		96	88	8	71	71	0	strelka-varscan-mutect	TRDN,splice_acceptor_variant,,ENST00000334268,NM_006073.3;	G	ENST00000334268	Transcript	splice_acceptor_variant	-/4770	1187/2190	396/729				1		-1	TRDN	HGNC	HGNC:12261	protein_coding	YES	CCDS55053.1	ENSP00000333984	Q13061		UPI0000D820CC	NM_006073.3				16/40																		HIGH	1	SNV	1			1										PASS		rs1478639470	.												G	5	3	8	123377899	123377899	C	G	1	0	0	0	0	0	0	1	0	16957	927	32	4		4	TRDN	6	123377899	Splice_Site	SNP	C	C3L-00093_TP	16337919	123377899	47428080	48	3055											
EPB41L2	0	.	GRCh38	chr6	130904533	130904533	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattaaaagtgaatagccaTggaaggtctgtaattattaa	17	12	8	4	0	1	1	0	1	1	0	1	2	1	2	1	2	1	1	1	2	8	5	novel		C3L-00093_TP	C3L-00093_NB	T	T																c.861A>G	p.=	p.P287P	ENST00000337057	6/20	109	103	6	79	79	0	strelka-varscan-mutect	EPB41L2,synonymous_variant,p.=,ENST00000337057,NM_001431.3;EPB41L2,synonymous_variant,p.=,ENST00000368128,;EPB41L2,synonymous_variant,p.=,ENST00000628542,;EPB41L2,synonymous_variant,p.=,ENST00000527411,;EPB41L2,synonymous_variant,p.=,ENST00000530481,NM_001199388.2;EPB41L2,synonymous_variant,p.=,ENST00000445890,;EPB41L2,synonymous_variant,p.=,ENST00000528282,NM_001252660.1;EPB41L2,synonymous_variant,p.=,ENST00000392427,NM_001135554.1,NM_001135555.3;EPB41L2,synonymous_variant,p.=,ENST00000529208,;EPB41L2,synonymous_variant,p.=,ENST00000525271,;EPB41L2,synonymous_variant,p.=,ENST00000527659,;EPB41L2,synonymous_variant,p.=,ENST00000525193,;EPB41L2,non_coding_transcript_exon_variant,,ENST00000530148,;EPB41L2,non_coding_transcript_exon_variant,,ENST00000528179,;EPB41L2,non_coding_transcript_exon_variant,,ENST00000526333,;	C	ENST00000337057	Transcript	synonymous_variant	1043/4457	861/3018	287/1005	P	ccA/ccG		1		-1	EPB41L2	HGNC	HGNC:3379	protein_coding	YES	CCDS5141.1	ENSP00000338481	O43491		UPI0000129AF9	NM_001431.3			6/20		Gene3D:3.10.20.90,PIRSF_domain:PIRSF002304,Prints_domain:PR00661,PROSITE_patterns:PS00660,PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF17,SMART_domains:SM00295,Superfamily_domains:SSF54236																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	8	130904533	130904533	T	C	1	0	0	0	0	0	0	0	1	5000	1451	51	5		5	EPB41L2	6	130904533	Silent	SNP	T	C3L-00093_TP	7526634	130904533	39901446	49	3056											
SDK1	0	.	GRCh38	chr7	4017336	4017336	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcagggcagtgaccgaGtacaccttgcagggaggtaa	11	7	14	9	1	1	1	1	1	0	0	1	3	1	2	2	3	3	5	2	3	2	4	rs774036784		C3L-00093_TP	C3L-00093_NB	G	G																c.2586G>C	p.Glu862Asp	p.E862D	ENST00000404826	17/45	114	108	6	63	63	0	strelka-mutect	SDK1,missense_variant,p.Glu862Asp,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Glu862Asp,ENST00000615806,;SDK1,missense_variant,p.Glu862Asp,ENST00000389531,;	C	ENST00000404826	Transcript	missense_variant	2725/10397	2586/6642	862/2213	E/D	gaG/gaC	rs774036784	1		1	SDK1	HGNC	HGNC:19307	protein_coding	YES	CCDS34590.1	ENSP00000385899	Q7Z5N4		UPI0000DBEEC4	NM_152744.3	deleterious(0.05)		17/45		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF36,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		rs774036784	.												C	3	2	8	4017336	4017336	G	C	1	0	0	0	0	1	0	0	0	14243	1020	36	4		4	SDK1	7	4017336	Missense_Mutation	SNP	G	C3L-00093_TP		4017336	155328637	50	3057											
SDK1	0	.	GRCh38	chr7	4114254	4114254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggagcgaggtggtgcGgggccggacgcgggagtcag	5	4	23	9	6	1	0	1	0	0	0	1	4	1	3	2	7	2	0	2	7	0	0	rs750500679		C3L-00093_TP	C3L-00093_NB	G	G																c.3803G>A	p.Arg1268Gln	p.R1268Q	ENST00000404826	25/45	299	273	26	156	156	0	strelka-varscan-mutect	SDK1,missense_variant,p.Arg1268Gln,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Arg1268Gln,ENST00000615806,;SDK1,missense_variant,p.Arg1268Gln,ENST00000389531,;	A	ENST00000404826	Transcript	missense_variant	3942/10397	3803/6642	1268/2213	R/Q	cGg/cAg	rs750500679,COSM1450686	1		1	SDK1	HGNC	HGNC:19307	protein_coding	YES	CCDS34590.1	ENSP00000385899	Q7Z5N4		UPI0000DBEEC4	NM_152744.3	tolerated(0.45)		25/45		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF36,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Superfamily_domains:SSF49265											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs750500679	.												A	3	1	8	4114254	4114254	G	A	1	0	0	0	0	1	0	0	0	14243	1116	39	1		1	SDK1	7	4114254	Missense_Mutation	SNP	G	C3L-00093_TP	96918	4114254	155231719	51	3058											
NXPH1	0	.	GRCh38	chr7	8751580	8751580	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggctaccaagaacacactCtgcaactatgacccttcaaa	16	7	5	13	0	2	2	1	1	1	1	2	2	2	2	2	1	4	2	2	1	7	3	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.627C>T	p.=	p.L209L	ENST00000405863	3/3	234	214	20	116	116	0	strelka-varscan-mutect	NXPH1,synonymous_variant,p.=,ENST00000405863,NM_152745.2;NXPH1,synonymous_variant,p.=,ENST00000602349,;NXPH1,downstream_gene_variant,,ENST00000429542,;NXPH1,downstream_gene_variant,,ENST00000438764,;NXPH1,non_coding_transcript_exon_variant,,ENST00000497400,;	T	ENST00000405863	Transcript	synonymous_variant	1538/2921	627/816	209/271	L	ctC/ctT		1		1	NXPH1	HGNC	HGNC:20693	protein_coding	YES	CCDS47540.1	ENSP00000384551	P58417	Q3LID8	UPI000000DC02	NM_152745.2			3/3		hmmpanther:PTHR17103:SF13,hmmpanther:PTHR17103,PIRSF_domain:PIRSF038019,Pfam_domain:PF06312																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	8	8751580	8751580	C	T	1	0	0	0	0	0	0	0	1	10866	900	32	3		3	NXPH1	7	8751580	Silent	SNP	C	C3L-00093_TP	4637326	8751580	150594393	52	3059											
CDK13	0	.	GRCh38	chr7	39988196	39988196	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcaacatgtagctttagtCacctctacattaccaccgtt	11	12	6	12	1	2	0	1	0	1	0	2	1	2	0	3	0	5	4	3	0	5	6	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.1809C>T	p.=	p.V603V	ENST00000181839	2/14	328	288	40	165	165	0	strelka-varscan-mutect	CDK13,synonymous_variant,p.=,ENST00000181839,NM_003718.4;CDK13,synonymous_variant,p.=,ENST00000340829,NM_031267.3;CDK13,5_prime_UTR_variant,,ENST00000613626,;CDK13,5_prime_UTR_variant,,ENST00000611390,;CDK13,non_coding_transcript_exon_variant,,ENST00000484589,;	T	ENST00000181839	Transcript	synonymous_variant	2414/7298	1809/4539	603/1512	V	gtC/gtT		1		1	CDK13	HGNC	HGNC:1733	protein_coding	YES	CCDS5461.1	ENSP00000181839	Q14004	A0A024RA85	UPI000013C5E3	NM_003718.4			2/14																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	8	39988196	39988196	C	T	1	0	0	0	0	0	0	0	1	2833	813	29	3		3	CDK13	7	39988196	Silent	SNP	C	C3L-00093_TP	31236616	39988196	119357777	53	3060											
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcacagattttgggcTggccaaactgctgggtgcgg	9	9	14	9	1	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	2	2	rs121434568		C3L-00093_TP	C3L-00093_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	652	495	157	362	362	0	strelka-varscan-mutect	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		rs121434568	.												G	3	3	8	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3L-00093_TP	15203626	55191822	104154151	54	3061											
EGFR	0	.	GRCh38	chr7	55191861	55191861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagaaagaataccatgCagaaggaggcaaagtaagga	20	3	14	4	0	0	3	0	0	0	3	0	7	0	6	1	4	2	3	1	4	7	2	rs397517134		C3L-00093_TP	C3L-00093_NB	C	C																c.2612C>G	p.Ala871Gly	p.A871G	ENST00000275493	21/28	577	430	147	376	376	0	strelka-varscan-mutect	EGFR,missense_variant,p.Ala871Gly,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala826Gly,ENST00000454757,;EGFR,missense_variant,p.Ala826Gly,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2789/9821	2612/3633	871/1210	A/G	gCa/gGa	rs397517134,COSM13008,COSM710350	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0.04)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										uncertain_significance	0,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs397517134	.												G	3	3	8	55191861	55191861	C	G	1	0	0	0	0	1	0	0	0	4803	710	25	4		4	EGFR	7	55191861	Missense_Mutation	SNP	C	C3L-00093_TP	39	55191861	104154112	55	3062											
ASL	0	.	GRCh38	chr7	66089680	66089680	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccaggtggccactggcgtCatctctacgctgcaggcaag	7	8	12	14	2	2	0	1	0	1	0	4	0	3	0	2	4	2	3	2	4	2	1	rs187877947		C3L-00093_TP	C3L-00093_NB	C	C																c.1047C>T	p.=	p.V349V	ENST00000304874	14/17	736	694	42	403	403	0	strelka-varscan-mutect	ASL,synonymous_variant,p.=,ENST00000304874,NM_000048.3;ASL,synonymous_variant,p.=,ENST00000380839,NM_001024946.1;ASL,synonymous_variant,p.=,ENST00000395332,NM_001024943.1;ASL,synonymous_variant,p.=,ENST00000395331,NM_001024944.1;AC068533.7,synonymous_variant,p.=,ENST00000450043,;ASL,downstream_gene_variant,,ENST00000362000,;ASL,non_coding_transcript_exon_variant,,ENST00000464970,;ASL,intron_variant,,ENST00000488343,;ASL,non_coding_transcript_exon_variant,,ENST00000493708,;ASL,downstream_gene_variant,,ENST00000487982,;	T	ENST00000304874	Transcript	synonymous_variant	1149/2143	1047/1395	349/464	V	gtC/gtT	rs187877947	1		1	ASL	HGNC	HGNC:746	protein_coding	YES	CCDS5531.1	ENSP00000307188	P04424	A0A024RDL8	UPI0000001634	NM_000048.3			14/17		HAMAP:MF_00006,hmmpanther:PTHR11444:SF3,hmmpanther:PTHR11444,Gene3D:1.20.200.10,TIGRFAM_domain:TIGR00838,Superfamily_domains:SSF48557																	LOW	1	SNV	1			1										PASS		rs187877947	.												T	2	4	8	66089680	66089680	C	T	1	0	0	0	0	0	0	0	1	1191	813	29	3		3	ASL	7	66089680	Silent	SNP	C	C3L-00093_TP	10897819	66089680	93256293	56	3063											
ADAM22	0	.	GRCh38	chr7	88179037	88179037	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactcagcatctagttctaaGaagaggtctgcttttctgtc	10	14	8	9	0	5	2	1	0	4	2	6	2	5	2	0	1	3	3	0	1	4	5	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.2403G>A	p.=	p.K801K	ENST00000265727	27/31	294	262	32	212	212	0	strelka-varscan-mutect	ADAM22,synonymous_variant,p.=,ENST00000265727,NM_021723.3;ADAM22,synonymous_variant,p.=,ENST00000398201,NM_004194.3,NM_021721.3;ADAM22,synonymous_variant,p.=,ENST00000398203,;ADAM22,synonymous_variant,p.=,ENST00000426930,;ADAM22,synonymous_variant,p.=,ENST00000413139,;ADAM22,intron_variant,,ENST00000398204,NM_001324417.1,NM_016351.4;ADAM22,intron_variant,,ENST00000398209,NM_021722.4;ADAM22,upstream_gene_variant,,ENST00000476330,;	A	ENST00000265727	Transcript	synonymous_variant	2482/2891	2403/2721	801/906	K	aaG/aaA		1		1	ADAM22	HGNC	HGNC:201	protein_coding	YES	CCDS47637.1	ENSP00000265727	Q9P0K1		UPI00001254DC	NM_021723.3			27/31		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF14,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	8	88179037	88179037	G	A	1	0	0	0	0	0	0	0	1	288	956	33	3		3	ADAM22	7	88179037	Silent	SNP	G	C3L-00093_TP	22089357	88179037	71166936	57	3064											
AKAP9	0	.	GRCh38	chr7	91995658	91995659	+	Frame_Shift_Ins	INS	-	-	A																															agtagcacagctgcagacttINSactacaagccaaacaacaga																								novel		C3L-00093_TP	C3L-00093_NB	-	-																c.789dupA	p.Leu264ThrfsTer15	p.L264Tfs*15	ENST00000356239	7/50	381	289	92	245	245	0	sindel-varindel-pindel	AKAP9,frameshift_variant,p.Leu264ThrfsTer15,ENST00000356239,NM_005751.4,NM_147185.2;AKAP9,frameshift_variant,p.Leu275ThrfsTer15,ENST00000359028,;AKAP9,frameshift_variant,p.Leu264ThrfsTer15,ENST00000358100,;AKAP9,frameshift_variant,p.Leu272ThrfsTer15,ENST00000619023,;AKAP9,frameshift_variant,p.Leu264ThrfsTer15,ENST00000394564,;AKAP9,frameshift_variant,p.Leu215ThrfsTer15,ENST00000438114,;AKAP9,non_coding_transcript_exon_variant,,ENST00000493453,;	A	ENST00000356239	Transcript	frameshift_variant	1021-1022/12471	788-789/11724	263/3907	L/LX	tta/ttAa		1		1	AKAP9	HGNC	HGNC:379	protein_coding	YES	CCDS5622.1	ENSP00000348573	Q99996		UPI000002A38D	NM_005751.4,NM_147185.2			7/50																			HIGH	1	insertion	1	1		1										PASS		.	.												A	7	5	8	91995658	91995658	-	A	1	0	1	1	0	0	0	0	0	543	1764	61	0		0	AKAP9	7	91995658	Frame_Shift_Ins	INS	-	C3L-00093_TP	3816621	91995658	67350315	58	3065											
AKAP9	0	.	GRCh38	chr7	92102758	92102758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttcacggatctagaggtGatcaccaatcgcccaaaggg	11	8	11	11	2	3	2	2	1	1	1	4	3	3	3	2	3	0	1	2	3	3	2	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.11262G>A	p.=	p.V3754V	ENST00000356239	46/50	375	350	25	200	200	0	strelka-varscan-mutect	AKAP9,synonymous_variant,p.=,ENST00000356239,NM_005751.4,NM_147185.2;AKAP9,synonymous_variant,p.=,ENST00000359028,;AKAP9,synonymous_variant,p.=,ENST00000394534,;AKAP9,non_coding_transcript_exon_variant,,ENST00000486313,;AKAP9,non_coding_transcript_exon_variant,,ENST00000487258,;AKAP9,non_coding_transcript_exon_variant,,ENST00000463118,;AKAP9,downstream_gene_variant,,ENST00000487692,;AKAP9,upstream_gene_variant,,ENST00000493976,;	A	ENST00000356239	Transcript	synonymous_variant	11495/12471	11262/11724	3754/3907	V	gtG/gtA		1		1	AKAP9	HGNC	HGNC:379	protein_coding	YES	CCDS5622.1	ENSP00000348573	Q99996		UPI000002A38D	NM_005751.4,NM_147185.2			46/50		hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF252,Pfam_domain:PF10495																	LOW	1	SNV	1			1										PASS		rs1346274347	.												A	2	1	8	92102758	92102758	G	A	1	0	0	0	0	0	0	0	1	543	1277	45	3		3	AKAP9	7	92102758	Silent	SNP	G	C3L-00093_TP	107100	92102758	67243215	59	3066											
MGAM2	0	.	GRCh38	chr7	142220427	142220427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaatactactactgctagCactaatgctactattcctat	14	13	3	11	0	0	0	0	0	0	0	1	0	1	0	1	0	7	3	1	0	9	9	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.5916C>A	p.Ser1972Arg	p.S1972R	ENST00000477922	48/48	412	367	45	246	246	0	strelka-varscan-mutect	MGAM2,missense_variant,p.Ser1972Arg,ENST00000477922,NM_001293626.1;MGAM2,non_coding_transcript_exon_variant,,ENST00000496337,;	A	ENST00000477922	Transcript	missense_variant	5970/7867	5916/7548	1972/2515	S/R	agC/agA		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	tolerated_low_confidence(0.22)		48/48		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	8	142220427	142220427	C	A	1	0	0	0	0	1	0	0	0	9500	709	25	2		2	MGAM2	7	142220427	Missense_Mutation	SNP	C	C3L-00093_TP	50117669	142220427	17125546	60	3067											
PRSS58	0	.	GRCh38	chr7	142255270	142255270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgcagatgcttttcattaGagtctgctgggattgtaacc	8	15	10	8	0	2	2	1	0	1	2	2	3	2	3	1	1	4	4	1	1	2	6	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.221C>T	p.Ser74Phe	p.S74F	ENST00000552471	3/5	238	215	23	135	135	0	strelka-mutect	PRSS58,missense_variant,p.Ser74Phe,ENST00000552471,;PRSS58,missense_variant,p.Ser74Phe,ENST00000547058,NM_001001317.4;	A	ENST00000552471	Transcript	missense_variant	541/1123	221/726	74/241	S/F	tCt/tTt		1		-1	PRSS58	HGNC	HGNC:39125	protein_coding	YES	CCDS5871.1	ENSP00000446916	Q8IYP2		UPI000004C649		tolerated(0.71)		3/5		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF185,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	8	142255270	142255270	G	A	1	0	0	0	0	1	0	0	0	12785	942	33	3		3	PRSS58	7	142255270	Missense_Mutation	SNP	G	C3L-00093_TP	34843	142255270	17090703	61	3068											
SGK223	0	.	GRCh38	chr8	8318930	8318930	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtgcaccagcagcaggttctCcaggcacaggtcccggtgga	8	6	14	13	1	1	0	0	0	1	0	3	1	2	1	3	5	3	5	3	5	0	1	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.3445G>C	p.Glu1149Gln	p.E1149Q	ENST00000615670	6/6	95	85	10	63	63	0	strelka-varscan-mutect	SGK223,missense_variant,p.Glu1149Gln,ENST00000615670,;SGK223,missense_variant,p.Glu1149Gln,ENST00000622241,NM_001080826.2;	G	ENST00000615670	Transcript	missense_variant	3710/4903	3445/4221	1149/1406	E/Q	Gag/Cag		1		-1	SGK223	Clone_based_vega_gene		protein_coding	YES	CCDS43706.1	ENSP00000481109	Q86YV5		UPI0003EAF98F		deleterious(0)		6/6		PROSITE_profiles:PS50011,hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972,PROSITE_patterns:PS00109,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	8	8318930	8318930	C	G	1	0	0	0	0	1	0	0	0	14469	864	30	4		4	SGK223	8	8318930	Missense_Mutation	SNP	C	C3L-00093_TP		8318930	136819706	62	3069											
PLEKHA2	0	.	GRCh38	chr8	38918040	38918040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctggacacccaggctaaCtgcctcctctggtatatgga	9	11	9	12	0	2	0	0	0	2	0	3	2	3	2	3	4	2	2	3	4	3	4	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.111C>T	p.=	p.N37N	ENST00000617275	2/12	203	187	16	126	126	0	strelka-varscan-mutect	PLEKHA2,synonymous_variant,p.=,ENST00000617275,NM_021623.1;PLEKHA2,synonymous_variant,p.=,ENST00000616834,;PLEKHA2,synonymous_variant,p.=,ENST00000521746,;PLEKHA2,synonymous_variant,p.=,ENST00000519640,;PLEKHA2,intron_variant,,ENST00000616927,;	T	ENST00000617275	Transcript	synonymous_variant	289/5582	111/1278	37/425	N	aaC/aaT		1		1	PLEKHA2	HGNC	HGNC:14336	protein_coding	YES	CCDS75732.1	ENSP00000482228		A8K727	UPI0001596C50	NM_021623.1			2/12		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR14336,hmmpanther:PTHR14336:SF5,SMART_domains:SM00233,Superfamily_domains:SSF50729																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	8	38918040	38918040	C	T	1	0	0	0	0	0	0	0	1	12149	564	20	3		3	PLEKHA2	8	38918040	Silent	SNP	C	C3L-00093_TP	30599110	38918040	106220596	63	3070											
CHRNB3	0	.	GRCh38	chr8	42736592	42736592	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttttacccctgctttgAagatgtggctacatagttac	9	16	8	8	0	0	3	0	2	0	1	0	3	0	3	2	1	4	3	2	1	5	7	rs35327613		C3L-00093_TP	C3L-00093_NB	A	A																c.1351A>T	p.Lys451Ter	p.K451*	ENST00000289957	6/6	343	299	44	219	219	0	strelka-varscan-mutect	CHRNB3,stop_gained,p.Lys451Ter,ENST00000289957,NM_000749.3;	T	ENST00000289957	Transcript	stop_gained	1479/2294	1351/1377	451/458	K/*	Aag/Tag	rs35327613	1		1	CHRNB3	HGNC	HGNC:1963	protein_coding	YES	CCDS6134.1	ENSP00000289957	Q05901		UPI0000125272	NM_000749.3			6/6		hmmpanther:PTHR18945:SF75,hmmpanther:PTHR18945,Gene3D:1.20.120.370,Superfamily_domains:SSF90112												22042774					HIGH	1	SNV	1			1										PASS		rs35327613	.												T	4	4	8	42736592	42736592	A	T	1	0	0	0	0	0	1	0	0	3152	247	9	4		4	CHRNB3	8	42736592	Nonsense_Mutation	SNP	A	C3L-00093_TP	3818552	42736592	102402044	64	3071											
IMPAD1	0	.	GRCh38	chr8	56993225	56993225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggggaaggcggtcttgaGcaggtagaacatcttgcggt	8	9	17	7	2	2	2	0	1	2	1	2	3	2	3	0	6	3	3	0	6	3	3	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.361C>T	p.Leu121Phe	p.L121F	ENST00000262644	1/5	298	267	31	189	189	0	strelka-varscan-mutect	IMPAD1,missense_variant,p.Leu121Phe,ENST00000262644,NM_017813.4;IMPAD1,missense_variant,p.Leu46Phe,ENST00000517461,;	A	ENST00000262644	Transcript	missense_variant	620/7199	361/1080	121/359	L/F	Ctc/Ttc		1		-1	IMPAD1	HGNC	HGNC:26019	protein_coding	YES	CCDS6169.1	ENSP00000262644	Q9NX62	A0A024R7W0	UPI000006DE7A	NM_017813.4	tolerated(0.2)		1/5		hmmpanther:PTHR20854,hmmpanther:PTHR20854:SF23,Pfam_domain:PF00459,Gene3D:3.30.540.10,Superfamily_domains:SSF56655																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	8	56993225	56993225	G	A	1	0	0	0	0	1	0	0	0	7627	971	34	3		3	IMPAD1	8	56993225	Missense_Mutation	SNP	G	C3L-00093_TP	14256633	56993225	88145411	65	3072											
TRPS1	0	.	GRCh38	chr8	115604525	115604525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagcttatcatttaactctgGattaaggccgcctgactgca	11	12	8	10	1	2	1	1	1	1	0	2	2	2	2	2	2	3	2	2	2	4	4	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.1444C>G	p.Pro482Ala	p.P482A	ENST00000395715	4/7	494	458	36	371	371	0	strelka-varscan-mutect	TRPS1,missense_variant,p.Pro482Ala,ENST00000395715,NM_014112.4,NM_001282903.2;TRPS1,missense_variant,p.Pro469Ala,ENST00000220888,;TRPS1,missense_variant,p.Pro473Ala,ENST00000520276,NM_001282902.2;TRPS1,missense_variant,p.Pro469Ala,ENST00000519674,;TRPS1,intron_variant,,ENST00000519076,;TRPS1,intron_variant,,ENST00000517323,;	C	ENST00000395715	Transcript	missense_variant	2022/9990	1444/3885	482/1294	P/A	Cca/Gca		1		-1	TRPS1	HGNC	HGNC:12340	protein_coding	YES	CCDS6318.2	ENSP00000379065	Q9UHF7		UPI00002104B8	NM_014112.4,NM_001282903.2	tolerated_low_confidence(0.11)		4/7		hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF176																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	8	115604525	115604525	G	C	1	0	0	0	0	1	0	0	0	17099	1174	41	4		4	TRPS1	8	115604525	Missense_Mutation	SNP	G	C3L-00093_TP	58611300	115604525	29534111	66	3073											
IFNE	0	.	GRCh38	chr9	21481155	21481155	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagtttttctgtgagactGaacacaaagaacagacatcg	14	10	8	9	1	2	4	1	2	1	3	3	5	2	4	0	0	2	1	0	0	3	2	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.540C>T	p.=	p.F180F	ENST00000448696	1/1	353	331	22	166	166	0	strelka-varscan-mutect	IFNE,synonymous_variant,p.=,ENST00000448696,NM_176891.4;MIR31HG,intron_variant,,ENST00000304425,;	A	ENST00000448696	Transcript	synonymous_variant	1159/1475	540/627	180/208	F	ttC/ttT		1		-1	IFNE	HGNC	HGNC:18163	protein_coding	YES	CCDS34997.1	ENSP00000418018	Q86WN2		UPI000000D8A7	NM_176891.4			1/1		Gene3D:1.20.1250.10,Pfam_domain:PF00143,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF8,Superfamily_domains:SSF47266																	LOW		SNV				1										PASS		rs1375015874	.												A	2	1	8	21481155	21481155	G	A	1	0	0	0	0	0	0	0	1	7447	1281	45	3		3	IFNE	9	21481155	Silent	SNP	G	C3L-00093_TP		21481155	116913562	67	3074											
TUSC1	0	.	GRCh38	chr9	25677757	25677757	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcctgtagaggctgctcctCcttgtccccgctcggacgtg	3	12	11	15	3	0	1	0	0	0	1	5	2	4	2	5	2	1	4	5	2	1	3	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.565G>C	p.Glu189Gln	p.E189Q	ENST00000358022	1/1	230	209	21	176	176	0	strelka-varscan-mutect	TUSC1,missense_variant,p.Glu189Gln,ENST00000358022,NM_001004125.2;	G	ENST00000358022	Transcript	missense_variant	684/2052	565/639	189/212	E/Q	Gag/Cag		1		-1	TUSC1	HGNC	HGNC:31010	protein_coding	YES	CCDS34999.1	ENSP00000350716	Q2TAM9		UPI0000161A7E	NM_001004125.2	tolerated_low_confidence(0.07)		1/1		hmmpanther:PTHR22952:SF134,hmmpanther:PTHR22952																	MODERATE	1	SNV				1										PASS		rs1269712240	.												G	3	3	8	25677757	25677757	C	G	1	0	0	0	0	1	0	0	0	17288	864	30	4		4	TUSC1	9	25677757	Missense_Mutation	SNP	C	C3L-00093_TP	4196602	25677757	112716960	68	3075											
UNC13B	0	.	GRCh38	chr9	35396875	35396875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtgctacaatggctggatGagaatgaggatgtatccctg	10	11	13	7	1	0	2	0	2	0	1	2	5	1	4	1	3	2	3	1	3	4	2	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.3223G>A	p.Glu1075Lys	p.E1075K	ENST00000378495	27/39	317	295	22	257	257	0	strelka-varscan-mutect	UNC13B,missense_variant,p.Glu3824Lys,ENST00000635942,;UNC13B,missense_variant,p.Glu1455Lys,ENST00000636694,;UNC13B,missense_variant,p.Glu662Lys,ENST00000617908,;UNC13B,missense_variant,p.Glu1075Lys,ENST00000619578,;UNC13B,missense_variant,p.Glu1075Lys,ENST00000378495,NM_006377.3;UNC13B,missense_variant,p.Glu1087Lys,ENST00000396787,;UNC13B,missense_variant,p.Glu662Lys,ENST00000378496,;UNC13B,missense_variant,p.Glu34Lys,ENST00000481299,;UNC13B,non_coding_transcript_exon_variant,,ENST00000637271,;UNC13B,3_prime_UTR_variant,,ENST00000634487,;	A	ENST00000378495	Transcript	missense_variant	3445/6303	3223/4776	1075/1591	E/K	Gag/Aag		1		1	UNC13B	HGNC	HGNC:12566	protein_coding	YES	CCDS6579.1	ENSP00000367756	O14795		UPI0000211336	NM_006377.3	deleterious(0.01)		27/39		PROSITE_profiles:PS51258,hmmpanther:PTHR10480																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	8	35396875	35396875	G	A	1	0	0	0	0	1	0	0	0	17509	1291	45	3		3	UNC13B	9	35396875	Missense_Mutation	SNP	G	C3L-00093_TP	9719118	35396875	102997842	69	3076											
CA9	0	.	GRCh38	chr9	35679886	35679886	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacaccctgtggggaccTggtgactctcggctacagct	6	10	12	13	1	2	2	0	2	2	0	3	3	2	3	2	4	2	2	2	4	1	1	novel		C3L-00093_TP	C3L-00093_NB	T	T																c.1098T>C	p.=	p.P366P	ENST00000378357	8/11	94	73	21	66	66	0	strelka-varscan-mutect	CA9,synonymous_variant,p.=,ENST00000378357,NM_001216.2;CA9,intron_variant,,ENST00000617161,;TPM2,downstream_gene_variant,,ENST00000378292,NM_213674.1;TPM2,downstream_gene_variant,,ENST00000378300,;TPM2,downstream_gene_variant,,ENST00000360958,NM_003289.3;TPM2,downstream_gene_variant,,ENST00000329305,NM_001301226.1;TPM2,downstream_gene_variant,,ENST00000607559,;CA9,non_coding_transcript_exon_variant,,ENST00000493245,;CA9,upstream_gene_variant,,ENST00000485665,;ARHGEF39,upstream_gene_variant,,ENST00000490638,;TPM2,downstream_gene_variant,,ENST00000471212,;TPM2,downstream_gene_variant,,ENST00000486018,;	C	ENST00000378357	Transcript	synonymous_variant	1202/1618	1098/1380	366/459	P	ccT/ccC		1		1	CA9	HGNC	HGNC:1383	protein_coding	YES	CCDS6585.1	ENSP00000367608	Q16790	A0A0S2Z3D0	UPI000013E02C	NM_001216.2			8/11		Gene3D:3.10.200.10,Pfam_domain:PF00194,PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF18,SMART_domains:SM01057,Superfamily_domains:SSF51069																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	8	35679886	35679886	T	C	1	0	0	0	0	0	0	0	1	2210	1567	55	5		5	CA9	9	35679886	Silent	SNP	T	C3L-00093_TP	283011	35679886	102714831	70	3077											
LAMC3	0	.	GRCh38	chr9	131052585	131052585	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccccactccctgtacagctGaggctggaagggacaggctt	8	8	12	13	0	0	1	0	1	0	0	2	3	2	3	3	4	2	4	3	4	2	2			C3L-00093_TP	C3L-00093_NB	G	G																c.1725G>A	p.=	p.L575L	ENST00000361069	10/28	210	185	25	127	127	0	strelka-varscan-mutect	LAMC3,synonymous_variant,p.=,ENST00000361069,NM_006059.3;LAMC3,intron_variant,,ENST00000480883,;	A	ENST00000361069	Transcript	synonymous_variant	1858/6133	1725/4728	575/1575	L	ctG/ctA	COSM421926	1		1	LAMC3	HGNC	HGNC:6494	protein_coding	YES	CCDS6938.1	ENSP00000354360	Q9Y6N6		UPI000013D6D3	NM_006059.3			10/28		Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,SMART_domains:SM00281											1						LOW	1	SNV	2		1	1										PASS		.	.												A	2	1	8	131052585	131052585	G	A	1	0	0	0	0	0	0	0	1	8520	1277	45	3		3	LAMC3	9	131052585	Silent	SNP	G	C3L-00093_TP	95372699	131052585	7342132	71	3078											
DBH	0	.	GRCh38	chr9	133643469	133643469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtccaccacatggaagtcttCcagtgcgcccccgagatgga	9	7	11	14	2	1	1	0	0	1	1	3	4	3	3	5	2	1	0	5	2	1	1	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.801C>T	p.=	p.F267F	ENST00000393056	4/12	336	299	37	237	236	1	strelka-varscan-mutect	DBH,synonymous_variant,p.=,ENST00000393056,NM_000787.3;DBH,synonymous_variant,p.=,ENST00000263611,;	T	ENST00000393056	Transcript	synonymous_variant	813/2763	801/1854	267/617	F	ttC/ttT		1		1	DBH	HGNC	HGNC:2689	protein_coding	YES	CCDS6977.2	ENSP00000376776	P09172		UPI0000E5D219	NM_000787.3			4/12		Gene3D:1yi9A01,Pfam_domain:PF01082,Prints_domain:PR00767,PROSITE_patterns:PS00084,hmmpanther:PTHR10157,hmmpanther:PTHR10157:SF29,Superfamily_domains:SSF49742																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	8	133643469	133643469	C	T	1	0	0	0	0	0	0	0	1	4050	854	30	3		3	DBH	9	133643469	Silent	SNP	C	C3L-00093_TP	2590884	133643469	4751248	72	3079											
NSMF	0	.	GRCh38	chr9	137459070	137459070	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggacatggcctcgctcctCagcgccctcctcctggaggc	5	7	12	17	2	1	0	1	0	0	0	5	3	4	2	5	4	1	1	5	4	0	0	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.33G>A	p.=	p.L11L	ENST00000371475	1/16	30	25	5	30	30	0	strelka-mutect	NSMF,synonymous_variant,p.=,ENST00000371475,NM_001130969.1;NSMF,synonymous_variant,p.=,ENST00000265663,NM_015537.4;NSMF,synonymous_variant,p.=,ENST00000437259,NM_001130970.1;NSMF,synonymous_variant,p.=,ENST00000371474,NM_001130971.1;NSMF,synonymous_variant,p.=,ENST00000371473,NM_001178064.1;NSMF,synonymous_variant,p.=,ENST00000371472,;PNPLA7,downstream_gene_variant,,ENST00000406427,NM_001098537.2;PNPLA7,downstream_gene_variant,,ENST00000277531,NM_152286.4;NSMF,upstream_gene_variant,,ENST00000339554,;PNPLA7,downstream_gene_variant,,ENST00000492278,;PNPLA7,downstream_gene_variant,,ENST00000469998,;PNPLA7,downstream_gene_variant,,ENST00000487228,;NSMF,upstream_gene_variant,,ENST00000371482,;NSMF,upstream_gene_variant,,ENST00000484316,;NSMF,upstream_gene_variant,,ENST00000371468,;	T	ENST00000371475	Transcript	synonymous_variant	265/3646	33/1593	11/530	L	ctG/ctA		1		-1	NSMF	HGNC	HGNC:29843	protein_coding	YES	CCDS48069.1	ENSP00000360530	Q6X4W1		UPI000035198D	NM_001130969.1			1/16		Low_complexity_(Seg):seg,hmmpanther:PTHR32061																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	8	137459070	137459070	C	T	1	0	0	0	0	0	0	0	1	10739	813	29	3		3	NSMF	9	137459070	Silent	SNP	C	C3L-00093_TP	3815601	137459070	935647	73	3080											
ZFAND4	0	.	GRCh38	chr10	45626122	45626122	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccagtgaggcaagaaaactGatattatttacacaaccaac	17	8	7	9	0	0	3	0	2	0	1	0	3	0	3	2	1	4	1	2	1	8	4	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.1701C>G	p.Ile567Met	p.I567M	ENST00000344646	7/10	379	352	27	277	277	0	strelka-varscan-mutect	ZFAND4,missense_variant,p.Ile493Met,ENST00000374366,NM_001282906.1,NM_001282905.1;ZFAND4,missense_variant,p.Ile567Met,ENST00000344646,NM_001128324.2,NM_174890.3;ZFAND4,intron_variant,,ENST00000374371,;ZFAND4,non_coding_transcript_exon_variant,,ENST00000374370,;	C	ENST00000344646	Transcript	missense_variant	1917/3241	1701/2184	567/727	I/M	atC/atG		1		-1	ZFAND4	HGNC	HGNC:23504	protein_coding	YES	CCDS7214.1	ENSP00000339484	Q86XD8	A0A024R7V9	UPI0000161363	NM_001128324.2,NM_174890.3	tolerated(0.13)		7/10		hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF109																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	8	45626122	45626122	G	C	1	0	0	0	0	1	0	0	0	18206	1280	45	4		4	ZFAND4	10	45626122	Missense_Mutation	SNP	G	C3L-00093_TP		45626122	88171300	74	3081											
SGMS1	0	.	GRCh38	chr10	50307154	50307154	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacagctgttatgtgtcattCaccagccggctgtatttaac	9	14	8	10	1	2	0	2	0	0	0	2	0	2	0	2	1	4	4	2	1	4	6	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.1230G>A	p.=	p.V410V	ENST00000361781	11/11	99	92	7	74	74	0	strelka-varscan-mutect	SGMS1,synonymous_variant,p.=,ENST00000361781,NM_147156.3;SGMS1,3_prime_UTR_variant,,ENST00000429490,;SGMS1,downstream_gene_variant,,ENST00000602619,;	T	ENST00000361781	Transcript	synonymous_variant	2190/3744	1230/1242	410/413	V	gtG/gtA		1		-1	SGMS1	HGNC	HGNC:29799	protein_coding	YES	CCDS7240.1	ENSP00000354829		D3DWC4	UPI000000D9FC	NM_147156.3			11/11		hmmpanther:PTHR21290,hmmpanther:PTHR21290:SF28																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	8	50307154	50307154	C	T	1	0	0	0	0	0	0	0	1	14472	813	29	3		3	SGMS1	10	50307154	Silent	SNP	C	C3L-00093_TP	4681032	50307154	83490268	75	3082											
RNLS	0	.	GRCh38	chr10	88362633	88362633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcccagcccaagggacatCaatcttcgtaccagcttcat	10	9	7	15	1	3	0	2	0	1	0	4	1	3	1	3	1	4	2	3	1	3	3			C3L-00093_TP	C3L-00093_NB	C	C																c.619G>A	p.Asp207Asn	p.D207N	ENST00000331772	5/7	327	301	26	226	226	0	strelka-varscan-mutect	RNLS,missense_variant,p.Asp207Asn,ENST00000371947,NM_018363.3;RNLS,missense_variant,p.Asp207Asn,ENST00000331772,NM_001031709.2;RNLS,non_coding_transcript_exon_variant,,ENST00000466945,;RNLS,non_coding_transcript_exon_variant,,ENST00000481793,;	T	ENST00000331772	Transcript	missense_variant	642/1447	619/1029	207/342	D/N	Gat/Aat	COSM4411585,COSM4411586	1		-1	RNLS	HGNC	HGNC:25641	protein_coding	YES	CCDS31239.1	ENSP00000332530	Q5VYX0		UPI00001AFF46	NM_001031709.2	tolerated(0.3)		5/7		hmmpanther:PTHR23357,Gene3D:3.90.660.10,Pfam_domain:PF01593											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	8	88362633	88362633	C	T	1	0	0	0	0	1	0	0	0	13685	826	29	3		3	RNLS	10	88362633	Missense_Mutation	SNP	C	C3L-00093_TP	38055479	88362633	45434789	76	3083											
PDCD11	0	.	GRCh38	chr10	103434301	103434301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggccctgagggccacCgttgttggcccagattcctc	5	8	13	15	1	0	2	0	1	0	1	2	2	1	2	6	4	0	2	6	4	0	3	rs200479386		C3L-00093_TP	C3L-00093_NB	C	C																c.3618C>T	p.=	p.T1206T	ENST00000369797	24/36	232	217	15	180	180	0	strelka-varscan-mutect	PDCD11,synonymous_variant,p.=,ENST00000369797,NM_014976.1;PDCD11,non_coding_transcript_exon_variant,,ENST00000466959,;	T	ENST00000369797	Transcript	synonymous_variant	3712/6453	3618/5616	1206/1871	T	acC/acT	rs200479386	1		1	PDCD11	HGNC	HGNC:13408	protein_coding	YES	CCDS31276.1	ENSP00000358812	Q14690		UPI00001C1ED1	NM_014976.1			24/36		PROSITE_profiles:PS50126,hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF10,Gene3D:2.40.50.140,SMART_domains:SM00316,Superfamily_domains:SSF50249																	LOW	1	SNV	1			1										PASS		rs200479386	.												T	2	4	8	103434301	103434301	C	T	1	0	0	0	0	0	0	0	1	11705	639	23	1		1	PDCD11	10	103434301	Silent	SNP	C	C3L-00093_TP	15071668	103434301	30363121	77	3084											
VAX1	0	.	GRCh38	chr10	117134578	117134578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccggttctggaaccagacCttcacctgcgcgccggggtg	5	7	14	15	5	2	1	1	0	1	1	2	2	2	2	5	4	2	1	5	4	1	2	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.435G>T	p.Lys145Asn	p.K145N	ENST00000369206	3/3	95	82	13	75	75	0	strelka-mutect	VAX1,missense_variant,p.Lys145Asn,ENST00000369206,NM_001112704.1;VAX1,intron_variant,,ENST00000277905,NM_199131.2;	A	ENST00000369206	Transcript	missense_variant	435/1723	435/1005	145/334	K/N	aaG/aaT		1		-1	VAX1	HGNC	HGNC:12660	protein_coding	YES	CCDS44483.1	ENSP00000358207	Q5SQQ9		UPI000013DB43	NM_001112704.1	deleterious(0.01)		3/3		Gene3D:1.10.10.60,Pfam_domain:PF00046,Prints_domain:PR00031,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,hmmpanther:PTHR24339,hmmpanther:PTHR24339:SF32,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	8	117134578	117134578	C	A	1	0	0	0	0	1	0	0	0	17679	695	24	2		2	VAX1	10	117134578	Missense_Mutation	SNP	C	C3L-00093_TP	13700277	117134578	16662844	78	3085											
MKI67	0	.	GRCh38	chr10	128104394	128104394	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttcaccaggggtatcttGagcctttgcttggagcttct	6	15	10	10	0	3	1	1	1	2	0	3	2	3	2	2	3	3	3	2	3	1	6	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.7446C>G	p.=	p.L2482L	ENST00000368654	13/15	244	222	22	198	198	0	strelka-varscan-mutect	MKI67,synonymous_variant,p.=,ENST00000368654,NM_002417.4;MKI67,synonymous_variant,p.=,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;	C	ENST00000368654	Transcript	synonymous_variant	7822/12678	7446/9771	2482/3256	L	ctC/ctG		1		-1	MKI67	HGNC	HGNC:7107	protein_coding	YES	CCDS7659.1	ENSP00000357643	P46013		UPI000013DB54	NM_002417.4			13/15		Pfam_domain:PF08065,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,SMART_domains:SM01295																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	8	128104394	128104394	G	C	1	0	0	0	0	0	0	0	1	9566	1277	45	4		4	MKI67	10	128104394	Silent	SNP	G	C3L-00093_TP	10969816	128104394	5693028	79	3086											
TRIM21	0	.	GRCh38	chr11	4390121	4390121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagaacaggtgaagtctctCtccatgcactgcacaccgtt	11	9	8	13	1	2	2	0	1	2	1	4	2	2	2	2	1	3	3	2	1	2	1	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.289G>A	p.Glu97Lys	p.E97K	ENST00000254436	2/7	385	358	27	273	273	0	strelka-varscan-mutect	TRIM21,missense_variant,p.Glu97Lys,ENST00000254436,NM_003141.3;TRIM21,upstream_gene_variant,,ENST00000533692,;	T	ENST00000254436	Transcript	missense_variant	402/1924	289/1428	97/475	E/K	Gag/Aag		1		-1	TRIM21	HGNC	HGNC:11312	protein_coding	YES	CCDS44525.1	ENSP00000254436	P19474		UPI000013450B	NM_003141.3	tolerated(0.07)		2/7		PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF46,Gene3D:1freA00,Pfam_domain:PF00643,SMART_domains:SM00336,Superfamily_domains:SSF57845																	MODERATE	1	SNV	1			1										PASS		rs1216089333	.												T	3	4	8	4390121	4390121	C	T	1	0	0	0	0	1	0	0	0	16984	922	32	3		3	TRIM21	11	4390121	Missense_Mutation	SNP	C	C3L-00093_TP		4390121	130696501	80	3087											
FAM160A2	0	.	GRCh38	chr11	6222478	6222478	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atacgagcaacgagggtgtcGaggatggtgtgggtgtcatg	9	9	18	5	3	1	0	1	0	0	0	2	4	1	1	0	4	3	1	0	4	2	1	rs766402546		C3L-00093_TP	C3L-00093_NB	G	G																c.1155C>T	p.=	p.L385L	ENST00000265978	6/12	229	213	16	141	141	0	strelka-varscan-mutect	FAM160A2,synonymous_variant,p.=,ENST00000265978,NM_032127.3;FAM160A2,synonymous_variant,p.=,ENST00000449352,NM_001098794.1;FAM160A2,synonymous_variant,p.=,ENST00000524416,;FAM160A2,upstream_gene_variant,,ENST00000532797,;	A	ENST00000265978	Transcript	synonymous_variant	1514/3481	1155/2961	385/986	L	ctC/ctT	rs766402546,COSM362855	1		-1	FAM160A2	HGNC	HGNC:25378	protein_coding	YES	CCDS7760.1	ENSP00000265978	Q8N612		UPI000013D6B5	NM_032127.3			6/12		hmmpanther:PTHR21705:SF4,hmmpanther:PTHR21705,Pfam_domain:PF10257											0,1						LOW	1	SNV	1		0,1	1										PASS		rs766402546	.												A	2	1	8	6222478	6222478	G	A	1	0	0	0	0	0	0	0	1	5318	1045	37	1		1	FAM160A2	11	6222478	Silent	SNP	G	C3L-00093_TP	1832357	6222478	128864144	81	3088											
SYT9	0	.	GRCh38	chr11	7303109	7303109	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctttggcgtgtctctcttCgtatcttggaaactctgctg	4	17	9	11	2	5	0	0	0	5	0	7	1	5	1	0	2	2	2	0	2	2	4	rs772136021		C3L-00093_TP	C3L-00093_NB	C	C																c.216C>T	p.=	p.F72F	ENST00000318881	2/7	346	315	31	181	180	1	strelka-varscan-mutect	SYT9,synonymous_variant,p.=,ENST00000318881,NM_175733.3;SYT9,synonymous_variant,p.=,ENST00000532592,;SYT9,synonymous_variant,p.=,ENST00000524820,;	T	ENST00000318881	Transcript	synonymous_variant	453/3955	216/1476	72/491	F	ttC/ttT	rs772136021,COSM2017011	1		1	SYT9	HGNC	HGNC:19265	protein_coding	YES	CCDS7778.1	ENSP00000324419	Q86SS6		UPI000000DB7B	NM_175733.3			2/7		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF180,Transmembrane_helices:TMhelix											0,1						LOW	1	SNV	1		0,1	1										PASS		rs772136021	.												T	2	4	8	7303109	7303109	C	T	1	0	0	0	0	0	0	0	1	15875	883	31	1		1	SYT9	11	7303109	Silent	SNP	C	C3L-00093_TP	1080631	7303109	127783513	82	3089											
STIP1	0	.	GRCh38	chr11	64197276	64197276	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaacctcatctaggcactGaaagaaaaagagctggggaa	17	6	10	8	0	2	3	1	1	1	2	2	4	2	4	1	3	2	2	1	3	7	2	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.819G>A	p.=	p.L273L	ENST00000358794	6/14	171	160	11	139	139	0	varscan-mutect	STIP1,synonymous_variant,p.=,ENST00000358794,NM_001282652.1;STIP1,synonymous_variant,p.=,ENST00000305218,NM_006819.2;STIP1,synonymous_variant,p.=,ENST00000538945,NM_001282653.1;STIP1,upstream_gene_variant,,ENST00000540887,;STIP1,downstream_gene_variant,,ENST00000543847,;STIP1,non_coding_transcript_exon_variant,,ENST00000537479,;STIP1,non_coding_transcript_exon_variant,,ENST00000544739,;STIP1,downstream_gene_variant,,ENST00000540501,;STIP1,non_coding_transcript_exon_variant,,ENST00000538497,;STIP1,intron_variant,,ENST00000536973,;STIP1,downstream_gene_variant,,ENST00000540736,;	A	ENST00000358794	Transcript	synonymous_variant	1372/2743	819/1773	273/590	L	ctG/ctA		1		1	STIP1	HGNC	HGNC:11387	protein_coding	YES	CCDS60827.1	ENSP00000351646	P31948		UPI00001FAA4C	NM_001282652.1			6/14		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,SMART_domains:SM00028,Superfamily_domains:SSF48452																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	8	64197276	64197276	G	A	1	0	0	0	0	0	0	0	1	15662	1304	45	3		3	STIP1	11	64197276	Silent	SNP	G	C3L-00093_TP	56894167	64197276	70889346	83	3090											
RCE1	0	.	GRCh38	chr11	66843507	66843507	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgctgtcggtgtcgcggccgGagcggccgcccgagtcggcg	2	6	19	14	9	0	0	0	0	0	0	3	2	0	1	3	5	2	1	3	5	0	0	rs111716594		C3L-00093_TP	C3L-00093_NB	G	G																c.52G>C	p.Glu18Gln	p.E18Q	ENST00000309657	1/8	208	194	14	142	142	0	strelka-varscan-mutect	RCE1,missense_variant,p.Glu18Gln,ENST00000309657,NM_005133.2;RCE1,missense_variant,p.Glu18Gln,ENST00000524506,;C11orf80,downstream_gene_variant,,ENST00000525908,NM_024650.3;C11orf80,downstream_gene_variant,,ENST00000532565,;C11orf80,downstream_gene_variant,,ENST00000525449,;C11orf80,downstream_gene_variant,,ENST00000360962,;C11orf80,downstream_gene_variant,,ENST00000540737,NM_001302084.1;C11orf80,downstream_gene_variant,,ENST00000527634,;PC,downstream_gene_variant,,ENST00000529047,;RCE1,upstream_gene_variant,,ENST00000525356,NM_001032279.1;C11orf80,downstream_gene_variant,,ENST00000531415,;RCE1,upstream_gene_variant,,ENST00000534645,;RCE1,missense_variant,p.Glu18Gln,ENST00000524849,;RCE1,non_coding_transcript_exon_variant,,ENST00000533277,;C11orf80,downstream_gene_variant,,ENST00000532727,;RCE1,upstream_gene_variant,,ENST00000532775,;RCE1,upstream_gene_variant,,ENST00000530610,;RCE1,upstream_gene_variant,,ENST00000534822,;	C	ENST00000309657	Transcript	missense_variant	96/1485	52/990	18/329	E/Q	Gag/Cag	rs111716594	1		1	RCE1	HGNC	HGNC:13721	protein_coding	YES	CCDS8151.1	ENSP00000309163	Q9Y256		UPI000012A4C6	NM_005133.2	tolerated(0.18)		1/8		hmmpanther:PTHR13046,hmmpanther:PTHR13046:SF1																	MODERATE	1	SNV	1			1										PASS		rs111716594	.												C	3	2	8	66843507	66843507	G	C	1	0	0	0	0	1	0	0	0	13346	1175	41	4		4	RCE1	11	66843507	Missense_Mutation	SNP	G	C3L-00093_TP	2646231	66843507	68243115	84	3091											
TENM4	0	.	GRCh38	chr11	78670466	78670466	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagtgtctgccgcgccacgTtgggcatcgtcacagaagag	8	8	13	12	4	2	2	1	0	1	2	3	2	2	2	2	1	1	2	2	1	2	2	rs113698645		C3L-00093_TP	C3L-00093_NB	T	T																c.5879A>T	p.Asn1960Ile	p.N1960I	ENST00000278550	32/34	232	208	24	147	147	0	strelka-varscan-mutect	TENM4,missense_variant,p.Asn1960Ile,ENST00000278550,NM_001098816.2;TENM4,missense_variant,p.Asn424Ile,ENST00000530738,;	A	ENST00000278550	Transcript	missense_variant	6342/14000	5879/8310	1960/2769	N/I	aAc/aTc	rs113698645	1		-1	TENM4	HGNC	HGNC:29945	protein_coding	YES	CCDS44688.1	ENSP00000278550	Q6N022		UPI0000DD8112	NM_001098816.2	deleterious(0)		32/34		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF9																	MODERATE	1	SNV	5			1										PASS		rs113698645	.												A	3	1	8	78670466	78670466	T	A	1	0	0	0	0	1	0	0	0	16174	1725	60	4		4	TENM4	11	78670466	Missense_Mutation	SNP	T	C3L-00093_TP	11826959	78670466	56416156	85	3092											
APOA5	0	.	GRCh38	chr11	116790518	116790518	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgtgcagggccttggccttGagcgtgagcttccgggagag	5	8	18	10	3	0	3	0	2	0	1	1	4	1	3	3	3	3	2	3	3	0	3	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.711C>G	p.=	p.L237L	ENST00000542499	4/4	160	149	11	100	100	0	strelka-varscan-mutect	APOA5,synonymous_variant,p.=,ENST00000542499,NM_052968.4,NM_001166598.1;APOA5,synonymous_variant,p.=,ENST00000227665,;ZPR1,upstream_gene_variant,,ENST00000227322,NM_003904.3;ZPR1,upstream_gene_variant,,ENST00000444935,;ZPR1,upstream_gene_variant,,ENST00000429220,;APOA5,downstream_gene_variant,,ENST00000433069,;ZPR1,upstream_gene_variant,,ENST00000449430,;ZPR1,upstream_gene_variant,,ENST00000425791,;ZPR1,upstream_gene_variant,,ENST00000487030,;ZPR1,upstream_gene_variant,,ENST00000431973,;ZPR1,upstream_gene_variant,,ENST00000498065,;	C	ENST00000542499	Transcript	synonymous_variant	784/1929	711/1101	237/366	L	ctC/ctG		1		-1	APOA5	HGNC	HGNC:17288	protein_coding	YES	CCDS8376.2	ENSP00000445002	Q6Q788	A0A0B4RUS7	UPI00000361EF	NM_052968.4,NM_001166598.1			4/4		hmmpanther:PTHR18976:SF13,hmmpanther:PTHR18976,Pfam_domain:PF01442,Gene3D:1.20.120.20,Superfamily_domains:0053393,Coiled-coils_(Ncoils):Coil																	LOW		SNV	5			1										PASS		.	.												C	2	2	8	116790518	116790518	G	C	1	0	0	0	0	0	0	0	1	906	1277	45	4		4	APOA5	11	116790518	Silent	SNP	G	C3L-00093_TP	38120052	116790518	18296104	86	3093											
OPCML	0	.	GRCh38	chr11	132420230	132420230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgggctaagagggtccctGatagccagagacaagccagt	12	6	14	9	0	0	3	0	1	0	2	1	4	1	3	3	2	2	1	3	2	3	2	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.1001C>T	p.Ser334Leu	p.S334L	ENST00000331898	7/7	268	249	19	192	192	0	strelka-varscan-mutect	OPCML,missense_variant,p.Ser334Leu,ENST00000331898,NM_001319106.1,NM_001319105.1,NM_002545.3;OPCML,missense_variant,p.Ser327Leu,ENST00000524381,NM_001012393.1;OPCML,missense_variant,p.Ser343Leu,ENST00000541867,;OPCML,missense_variant,p.Ser334Leu,ENST00000612177,;OPCML,missense_variant,p.Ser293Leu,ENST00000374778,;OPCML,non_coding_transcript_exon_variant,,ENST00000529038,;	A	ENST00000331898	Transcript	missense_variant	1580/6833	1001/1038	334/345	S/L	tCa/tTa		1		-1	OPCML	HGNC	HGNC:8143	protein_coding	YES	CCDS8492.1	ENSP00000330862	Q14982	A8K0Y0	UPI0000055AE0	NM_001319106.1,NM_001319105.1,NM_002545.3	tolerated(1)		7/7																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	8	132420230	132420230	G	A	1	0	0	0	0	1	0	0	0	10951	1294	45	3		3	OPCML	11	132420230	Missense_Mutation	SNP	G	C3L-00093_TP	15629712	132420230	2666392	87	3094											
HAL	0	.	GRCh38	chr12	95995790	95995790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggtgaagccaccattgtCgggcttattcttgatatagc	9	12	12	8	1	1	2	0	2	1	0	2	3	1	3	2	3	2	1	2	3	4	6	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.121G>A	p.Asp41Asn	p.D41N	ENST00000261208	2/21	453	425	28	285	285	0	strelka-varscan-mutect	HAL,missense_variant,p.Asp41Asn,ENST00000261208,NM_002108.3;HAL,missense_variant,p.Asp41Asn,ENST00000538703,NM_001258334.1;HAL,missense_variant,p.Asp41Asn,ENST00000552509,;HAL,5_prime_UTR_variant,,ENST00000541929,NM_001258333.1;HAL,upstream_gene_variant,,ENST00000546579,;RP11-256L6.3,upstream_gene_variant,,ENST00000551849,;HAL,missense_variant,p.Asp41Asn,ENST00000544080,;HAL,missense_variant,p.Asp41Asn,ENST00000546999,;HAL,upstream_gene_variant,,ENST00000549376,;	T	ENST00000261208	Transcript	missense_variant	490/3913	121/1974	41/657	D/N	Gac/Aac		1		-1	HAL	HGNC	HGNC:4806	protein_coding	YES	CCDS9058.1	ENSP00000261208	P42357		UPI000012CE8E	NM_002108.3	tolerated_low_confidence(0.11)		2/21																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	8	95995790	95995790	C	T	1	0	0	0	0	1	0	0	0	6833	884	31	1		1	HAL	12	95995790	Missense_Mutation	SNP	C	C3L-00093_TP		95995790	37279519	88	3095											
MYO1H	0	.	GRCh38	chr12	109401210	109401210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgctggcaggtggcgaaGaggagcgcctgtcttacctg	7	8	16	10	2	1	1	0	0	1	1	1	3	1	2	2	4	4	3	2	4	2	1	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.640G>C	p.Glu214Gln	p.E214Q	ENST00000431443	5/31	238	226	12	118	118	0	strelka-varscan-mutect	MYO1H,missense_variant,p.Glu230Gln,ENST00000310903,;MYO1H,missense_variant,p.Glu214Gln,ENST00000431443,NM_001101421.3;MYO1H,upstream_gene_variant,,ENST00000542883,;	C	ENST00000431443	Transcript	missense_variant	640/4258	640/3069	214/1022	E/Q	Gag/Cag		1		1	MYO1H	HGNC	HGNC:13879	protein_coding	YES	CCDS53826.1	ENSP00000444076	Q8N1T3		UPI0001AFF951	NM_001101421.3	tolerated(0.1)		5/31		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF353,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	8	109401210	109401210	G	C	1	0	0	0	0	1	0	0	0	10076	943	33	4		4	MYO1H	12	109401210	Missense_Mutation	SNP	G	C3L-00093_TP	13405420	109401210	23874099	89	3096											
WDR66	0	.	GRCh38	chr12	121960664	121960664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtacttagcaagacttcGctctcatcgcaaaagcattc	12	10	8	11	2	1	1	1	0	1	1	5	2	1	2	0	1	3	5	0	1	5	4	rs200928405		C3L-00093_TP	C3L-00093_NB	G	G																c.2213G>A	p.Arg738His	p.R738H	ENST00000288912	14/22	322	295	27	233	233	0	strelka-varscan-mutect	WDR66,missense_variant,p.Arg738His,ENST00000288912,NM_144668.5;WDR66,missense_variant,p.Arg738His,ENST00000397454,NM_001178003.1;WDR66,upstream_gene_variant,,ENST00000545752,;WDR66,downstream_gene_variant,,ENST00000543211,;WDR66,downstream_gene_variant,,ENST00000535257,;	A	ENST00000288912	Transcript	missense_variant	3067/4467	2213/3450	738/1149	R/H	cGc/cAc	rs200928405,COSM264693	1		1	WDR66	HGNC	HGNC:28506	protein_coding	YES	CCDS41853.1	ENSP00000288912	Q8TBY9		UPI00001AEB2C	NM_144668.5	tolerated(0.47)		14/22		hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF13,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF50998											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs200928405	.												A	3	1	8	121960664	121960664	G	A	1	0	0	0	0	1	0	0	0	17875	1087	38	1		1	WDR66	12	121960664	Missense_Mutation	SNP	G	C3L-00093_TP	12559454	121960664	11314645	90	3097											
SHISA2	0	.	GRCh38	chr13	26050738	26050738	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccctggtccaggcgcgcctCggcgctggagcagcagtagc	5	5	16	15	4	0	0	0	0	0	0	2	1	1	1	3	4	3	4	3	4	1	1	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.238G>C	p.Glu80Gln	p.E80Q	ENST00000319420	1/2	166	157	9	95	95	0	strelka-varscan-mutect	SHISA2,missense_variant,p.Glu80Gln,ENST00000319420,NM_001007538.1;LINC00415,downstream_gene_variant,,ENST00000439079,;	G	ENST00000319420	Transcript	missense_variant	294/2860	238/888	80/295	E/Q	Gag/Cag		1		-1	SHISA2	HGNC	HGNC:20366	protein_coding	YES	CCDS31951.1	ENSP00000313079	Q6UWI4		UPI000004BA7B	NM_001007538.1	deleterious(0.02)		1/2		hmmpanther:PTHR31395:SF0,hmmpanther:PTHR31395,Pfam_domain:PF13908																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	8	26050738	26050738	C	G	1	0	0	0	0	1	0	0	0	14540	893	31	4		4	SHISA2	13	26050738	Missense_Mutation	SNP	C	C3L-00093_TP		26050738	88313590	91	3098											
FRY	0	.	GRCh38	chr13	32261728	32261728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcaggaagcactcctaGcctgaataaaatgcaccatg	14	8	8	11	0	1	1	1	1	0	0	2	2	2	2	3	1	3	2	3	1	5	2	rs769465756		C3L-00093_TP	C3L-00093_NB	G	G																c.7529G>T	p.Ser2510Ile	p.S2510I	ENST00000542859	52/61	419	367	52	302	302	0	strelka-varscan-mutect	FRY,missense_variant,p.Ser2510Ile,ENST00000542859,NM_023037.2;FRY,missense_variant,p.Ser2509Ile,ENST00000380250,;FRY,non_coding_transcript_exon_variant,,ENST00000602645,;FRY,upstream_gene_variant,,ENST00000477712,;	T	ENST00000542859	Transcript	missense_variant	8025/13200	7529/9042	2510/3013	S/I	aGc/aTc	rs769465756,COSM239921	1		1	FRY	HGNC	HGNC:20367	protein_coding	YES	CCDS41875.1	ENSP00000445043	Q5TBA9		UPI000046FD40	NM_023037.2	tolerated(0.07)		52/61		hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs769465756	.												T	3	4	8	32261728	32261728	G	T	1	0	0	0	0	1	0	0	0	5935	971	34	2		2	FRY	13	32261728	Missense_Mutation	SNP	G	C3L-00093_TP	6210990	32261728	82102600	92	3099											
CCDC168	0	.	GRCh38	chr13	102739204	102739204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctctagttttttattgctCcgttgtggttcttttccatg	3	23	7	8	1	2	0	0	0	2	0	5	0	4	0	2	1	1	4	2	1	2	10	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.11493G>A	p.=	p.R3831R	ENST00000322527	4/4	168	150	18	146	146	0	strelka-varscan-mutect	CCDC168,synonymous_variant,p.=,ENST00000322527,NM_001146197.1;LINC00283,upstream_gene_variant,,ENST00000430111,;	T	ENST00000322527	Transcript	synonymous_variant	11631/21466	11493/21246	3831/7081	R	cgG/cgA		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1			4/4		Pfam_domain:PF15804																	LOW	1	SNV	3			1										PASS		.	.												T	2	4	8	102739204	102739204	C	T	1	0	0	0	0	0	0	0	1	2484	842	30	3		3	CCDC168	13	102739204	Silent	SNP	C	C3L-00093_TP	70477476	102739204	11625124	93	3100											
AP1G2	0	.	GRCh38	chr14	23565145	23565145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaagtcattcatggtctCactgctctcctcgtggttcc	6	13	8	14	1	4	0	3	0	2	0	8	0	5	0	2	2	2	3	2	2	1	2	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.796G>A	p.Glu266Lys	p.E266K	ENST00000308724	7/21	238	212	26	182	182	0	strelka-varscan-mutect	AP1G2,missense_variant,p.Glu266Lys,ENST00000308724,NM_001282475.1;AP1G2,missense_variant,p.Glu266Lys,ENST00000397120,NM_001282474.1,NM_003917.4;JPH4,downstream_gene_variant,,ENST00000397118,NM_032452.2;JPH4,downstream_gene_variant,,ENST00000356300,NM_001146028.1;JPH4,downstream_gene_variant,,ENST00000622501,;THTPA,downstream_gene_variant,,ENST00000288014,;JPH4,downstream_gene_variant,,ENST00000544177,;AP1G2,downstream_gene_variant,,ENST00000557189,;AP1G2,upstream_gene_variant,,ENST00000554477,;AP1G2,downstream_gene_variant,,ENST00000556843,;RP11-66N24.3,intron_variant,,ENST00000555968,;RP11-66N24.4,downstream_gene_variant,,ENST00000553985,;AP1G2,non_coding_transcript_exon_variant,,ENST00000556277,;AP1G2,upstream_gene_variant,,ENST00000555510,;AP1G2,upstream_gene_variant,,ENST00000555118,;AP1G2,3_prime_UTR_variant,,ENST00000556943,;AP1G2,non_coding_transcript_exon_variant,,ENST00000460049,;AP1G2,non_coding_transcript_exon_variant,,ENST00000465445,;AP1G2,non_coding_transcript_exon_variant,,ENST00000535852,;AP1G2,non_coding_transcript_exon_variant,,ENST00000556743,;AP1G2,non_coding_transcript_exon_variant,,ENST00000553629,;AP1G2,upstream_gene_variant,,ENST00000554554,;AP1G2,upstream_gene_variant,,ENST00000556966,;AP1G2,downstream_gene_variant,,ENST00000557619,;AP1G2,downstream_gene_variant,,ENST00000555896,;AP1G2,downstream_gene_variant,,ENST00000554069,;AP1G2,downstream_gene_variant,,ENST00000557482,;AP1G2,upstream_gene_variant,,ENST00000554982,;AP1G2,upstream_gene_variant,,ENST00000556152,;AP1G2,upstream_gene_variant,,ENST00000554892,;AP1G2,downstream_gene_variant,,ENST00000553756,;AP1G2,downstream_gene_variant,,ENST00000554312,;AP1G2,upstream_gene_variant,,ENST00000554977,;AP1G2,downstream_gene_variant,,ENST00000553685,;AP1G2,upstream_gene_variant,,ENST00000557162,;AP1G2,upstream_gene_variant,,ENST00000557132,;AP1G2,upstream_gene_variant,,ENST00000557391,;AP1G2,upstream_gene_variant,,ENST00000556741,;AP1G2,upstream_gene_variant,,ENST00000555974,;AP1G2,upstream_gene_variant,,ENST00000555789,;AP1G2,downstream_gene_variant,,ENST00000554816,;	T	ENST00000308724	Transcript	missense_variant	1552/3298	796/2358	266/785	E/K	Gag/Aag		1		-1	AP1G2	HGNC	HGNC:556	protein_coding	YES	CCDS9602.1	ENSP00000312442	O75843		UPI0000124FE8	NM_001282475.1	deleterious(0)		7/21		Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037094,hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF28,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	8	23565145	23565145	C	T	1	0	0	0	0	1	0	0	0	849	835	29	3		3	AP1G2	14	23565145	Missense_Mutation	SNP	C	C3L-00093_TP		23565145	83478573	94	3101											
SYNE2	0	.	GRCh38	chr14	64052575	64052575	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaggaattgcaagaaattGacagtggaatctcaacacat	18	8	9	6	0	1	3	1	1	1	2	2	5	1	5	0	2	2	1	0	2	6	2	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.8662G>C	p.Asp2888His	p.D2888H	ENST00000358025	48/116	336	316	20	244	244	0	strelka-varscan-mutect	SYNE2,missense_variant,p.Asp2888His,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Asp2888His,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Asp2921His,ENST00000357395,;SYNE2,missense_variant,p.Asp2921His,ENST00000554584,;SYNE2,downstream_gene_variant,,ENST00000557005,;	C	ENST00000358025	Transcript	missense_variant	8874/21842	8662/20724	2888/6907	D/H	Gac/Cac		1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2	deleterious(0)		48/116		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF317																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	8	64052575	64052575	G	C	1	0	0	0	0	1	0	0	0	15838	1290	45	4		4	SYNE2	14	64052575	Missense_Mutation	SNP	G	C3L-00093_TP	40487430	64052575	42991143	95	3102											
C2CD4A	0	.	GRCh38	chr15	62068447	62068447	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccggctgctccgcgccgaGagcccggccggaggcgcccc	3	3	15	20	7	0	1	0	0	0	1	2	3	2	2	7	4	2	2	7	4	0	0	rs530494685		C3L-00093_TP	C3L-00093_NB	G	G																c.834G>C	p.Glu278Asp	p.E278D	ENST00000355522	2/2	125	115	10	92	92	0	strelka-varscan-mutect	C2CD4A,missense_variant,p.Glu278Asp,ENST00000355522,NM_207322.2;	C	ENST00000355522	Transcript	missense_variant	975/3445	834/1110	278/369	E/D	gaG/gaC	rs530494685	1		1	C2CD4A	HGNC	HGNC:33627	protein_coding	YES	CCDS32258.1	ENSP00000347712	Q8NCU7		UPI0000140CF2	NM_207322.2	deleterious(0.01)		2/2		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF224,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		rs530494685	.												C	3	2	8	62068447	62068447	G	C	1	0	0	0	0	1	0	0	0	2027	933	33	4		4	C2CD4A	15	62068447	Missense_Mutation	SNP	G	C3L-00093_TP		62068447	39922742	96	3103											
CILP	0	.	GRCh38	chr15	65205378	65205378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaatgcgtgtgcgagtCtggaccccagtctgaccaca	11	7	11	12	2	2	1	0	1	2	0	2	3	2	2	3	1	3	1	3	1	2	0	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.513G>T	p.Gln171His	p.Q171H	ENST00000261883	5/9	183	169	14	110	110	0	strelka-varscan-mutect	CILP,missense_variant,p.Gln171His,ENST00000261883,NM_003613.3;	A	ENST00000261883	Transcript	missense_variant	680/5695	513/3555	171/1184	Q/H	caG/caT		1		-1	CILP	HGNC	HGNC:1980	protein_coding	YES	CCDS10203.1	ENSP00000261883	O75339		UPI000013D21B	NM_003613.3	deleterious(0.02)		5/9		PROSITE_profiles:PS50092,hmmpanther:PTHR15031,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	8	65205378	65205378	C	A	1	0	0	0	0	1	0	0	0	3191	912	32	2		2	CILP	15	65205378	Missense_Mutation	SNP	C	C3L-00093_TP	3136931	65205378	36785811	97	3104											
TMEM8A	0	.	GRCh38	chr16	374321	374321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacatgaggttgctgagcGtgagcagcagtgtggccgcc	8	7	17	9	2	0	3	0	3	0	0	0	4	0	4	2	3	5	4	2	3	1	1	rs374093452		C3L-00093_TP	C3L-00093_NB	G	G																c.1655C>T	p.Thr552Met	p.T552M	ENST00000431232	10/13	121	104	17	72	71	1	strelka-varscan-mutect	TMEM8A,missense_variant,p.Thr552Met,ENST00000431232,NM_021259.2;TMEM8A,missense_variant,p.Thr359Met,ENST00000250930,;TMEM8A,missense_variant,p.Thr100Met,ENST00000448854,;TMEM8A,missense_variant,p.Thr59Met,ENST00000424078,;MRPL28,upstream_gene_variant,,ENST00000199706,NM_006428.4;MRPL28,upstream_gene_variant,,ENST00000389675,;MRPL28,upstream_gene_variant,,ENST00000441883,;MRPL28,upstream_gene_variant,,ENST00000447696,;MRPL28,upstream_gene_variant,,ENST00000450882,;TMEM8A,downstream_gene_variant,,ENST00000427313,;MRPL28,upstream_gene_variant,,ENST00000429738,;TMEM8A,downstream_gene_variant,,ENST00000476735,;TMEM8A,non_coding_transcript_exon_variant,,ENST00000467452,;MRPL28,upstream_gene_variant,,ENST00000481453,;MRPL28,upstream_gene_variant,,ENST00000483764,;MRPL28,upstream_gene_variant,,ENST00000461550,;MRPL28,upstream_gene_variant,,ENST00000469744,;TMEM8A,downstream_gene_variant,,ENST00000475348,;	A	ENST00000431232	Transcript	missense_variant	1816/3691	1655/2316	552/771	T/M	aCg/aTg	rs374093452	1		-1	TMEM8A	HGNC	HGNC:17205	protein_coding	YES	CCDS10407.1	ENSP00000401338	Q9HCN3		UPI000013CCD4	NM_021259.2	deleterious(0)		10/13		Pfam_domain:PF12036,hmmpanther:PTHR14319,hmmpanther:PTHR14319:SF7,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs374093452	.												A	3	1	8	374321	374321	G	A	1	0	0	0	0	1	0	0	0	16691	1145	40	1		1	TMEM8A	16	374321	Missense_Mutation	SNP	G	C3L-00093_TP		374321	89964024	98	3105											
PRRT2	0	.	GRCh38	chr16	29813082	29813082	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagcagctctgagatctctGagatgaagggggttgaggag	10	8	16	7	0	2	4	0	4	2	2	3	7	2	5	1	3	2	3	1	3	1	1	rs529418384		C3L-00093_TP	C3L-00093_NB	G	G																c.28G>C	p.Glu10Gln	p.E10Q	ENST00000567659	2/3	98	88	10	70	70	0	strelka-varscan-mutect	PRRT2,missense_variant,p.Glu10Gln,ENST00000300797,NM_001256443.1;PRRT2,missense_variant,p.Glu10Gln,ENST00000358758,NM_145239.2;PRRT2,missense_variant,p.Glu10Gln,ENST00000572820,;PRRT2,missense_variant,p.Glu10Gln,ENST00000637064,;PRRT2,missense_variant,p.Glu10Gln,ENST00000636619,;PRRT2,missense_variant,p.Glu10Gln,ENST00000637403,;PRRT2,missense_variant,p.Glu10Gln,ENST00000637565,;PRRT2,missense_variant,p.Glu10Gln,ENST00000567659,NM_001256442.1;PRRT2,missense_variant,p.Glu10Gln,ENST00000567551,;PRRT2,missense_variant,p.Glu10Gln,ENST00000562148,;PRRT2,missense_variant,p.Glu10Gln,ENST00000637596,;PRRT2,missense_variant,p.Glu10Gln,ENST00000636246,;MAZ,downstream_gene_variant,,ENST00000219782,NM_001042539.2;MAZ,downstream_gene_variant,,ENST00000322945,NM_002383.3;MAZ,downstream_gene_variant,,ENST00000545521,NM_001276275.1;PAGR1,upstream_gene_variant,,ENST00000320330,NM_024516.3;MAZ,downstream_gene_variant,,ENST00000568282,;MAZ,downstream_gene_variant,,ENST00000562337,NM_001276276.1;MAZ,downstream_gene_variant,,ENST00000568544,;MAZ,downstream_gene_variant,,ENST00000563402,;MAZ,downstream_gene_variant,,ENST00000566906,;MAZ,downstream_gene_variant,,ENST00000616501,;MAZ,downstream_gene_variant,,ENST00000563012,;MAZ,downstream_gene_variant,,ENST00000567444,;MAZ,downstream_gene_variant,,ENST00000568411,;MAZ,downstream_gene_variant,,ENST00000569978,;MAZ,downstream_gene_variant,,ENST00000562557,;PRRT2,upstream_gene_variant,,ENST00000636902,;AC009133.12,intron_variant,,ENST00000569039,;AC009133.12,upstream_gene_variant,,ENST00000569981,;AC009133.12,downstream_gene_variant,,ENST00000569809,;AC009133.12,upstream_gene_variant,,ENST00000563806,;PRRT2,intron_variant,,ENST00000636019,;PRRT2,downstream_gene_variant,,ENST00000568516,;AC009133.24,downstream_gene_variant,,ENST00000562594,;PRRT2,downstream_gene_variant,,ENST00000636001,;PRRT2,upstream_gene_variant,,ENST00000637425,;PRRT2,downstream_gene_variant,,ENST00000637542,;PRRT2,missense_variant,p.Glu10Gln,ENST00000636131,;AC009133.23,missense_variant,p.Glu10Gln,ENST00000609618,;PRRT2,missense_variant,p.Glu10Gln,ENST00000637290,;MAZ,downstream_gene_variant,,ENST00000565777,;MAZ,downstream_gene_variant,,ENST00000561855,;CTD-2574D22.6,upstream_gene_variant,,ENST00000562285,;	C	ENST00000567659	Transcript	missense_variant	226/1470	28/1185	10/394	E/Q	Gag/Cag	rs529418384,COSM1301837	1		1	PRRT2	HGNC	HGNC:30500	protein_coding	YES	CCDS58445.1	ENSP00000456226	Q7Z6L0		UPI00000712B6	NM_001256442.1	deleterious_low_confidence(0)		2/3		hmmpanther:PTHR14948,hmmpanther:PTHR14948:SF20											0,1						MODERATE		SNV	2		0,1	1										PASS		rs529418384	.												C	3	2	8	29813082	29813082	G	C	1	0	0	0	0	1	0	0	0	12756	1291	45	4		4	PRRT2	16	29813082	Missense_Mutation	SNP	G	C3L-00093_TP	29438761	29813082	60525263	99	3106											
ZNF629	0	.	GRCh38	chr16	30782592	30782592	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatgaagatgccctcgtcgTtgaagccctttccgcacacg	8	9	10	14	4	0	3	0	2	0	1	3	3	1	3	3	0	2	3	3	0	2	2	novel		C3L-00093_TP	C3L-00093_NB	T	T																c.1736A>G	p.Asn579Ser	p.N579S	ENST00000262525	3/3	435	391	44	236	236	0	strelka-varscan-mutect	ZNF629,missense_variant,p.Asn579Ser,ENST00000262525,NM_001080417.1;	C	ENST00000262525	Transcript	missense_variant	1944/6087	1736/2610	579/869	N/S	aAc/aGc		1		-1	ZNF629	HGNC	HGNC:29008	protein_coding	YES	CCDS45463.1	ENSP00000262525	Q9UEG4		UPI00001C1FA5	NM_001080417.1	tolerated(0.66)		3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF299,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	8	30782592	30782592	T	C	1	0	0	0	0	1	0	0	0	18628	1725	60	5		5	ZNF629	16	30782592	Missense_Mutation	SNP	T	C3L-00093_TP	969510	30782592	59555753	100	3107											
SLC38A8	0	.	GRCh38	chr16	84016571	84016571	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccgatgatgctgacgatCtcgctgaggtcaggcataaa	10	9	11	11	3	2	3	1	3	1	0	4	5	3	3	2	2	1	3	2	2	2	1	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.1110G>C	p.Glu370Asp	p.E370D	ENST00000299709	8/10	313	295	18	149	149	0	strelka-mutect	SLC38A8,missense_variant,p.Glu370Asp,ENST00000299709,NM_001080442.2;SLC38A8,non_coding_transcript_exon_variant,,ENST00000568003,;	G	ENST00000299709	Transcript	missense_variant	1110/1308	1110/1308	370/435	E/D	gaG/gaC		1		-1	SLC38A8	HGNC	HGNC:32434	protein_coding	YES	CCDS32495.1	ENSP00000299709	A6NNN8		UPI0000D61A1F	NM_001080442.2	tolerated(0.23)		8/10		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF226																	MODERATE	1	SNV	5			1										PASS		rs1400195404	.												G	3	3	8	84016571	84016571	C	G	1	0	0	0	0	1	0	0	0	14888	912	32	4		4	SLC38A8	16	84016571	Missense_Mutation	SNP	C	C3L-00093_TP	53233979	84016571	6321774	101	3108			1	4		2	2	12	C		4.523475e-05
SLC38A8	0	.	GRCh38	chr16	84016582	84016582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgacgatctcgctgaggtCaggcataaacagcgccatgg	10	7	13	11	3	2	2	1	2	1	0	3	3	2	2	1	3	2	3	1	3	2	1	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.1099G>C	p.Asp367His	p.D367H	ENST00000299709	8/10	341	319	22	159	159	0	strelka-mutect	SLC38A8,missense_variant,p.Asp367His,ENST00000299709,NM_001080442.2;SLC38A8,non_coding_transcript_exon_variant,,ENST00000568003,;	G	ENST00000299709	Transcript	missense_variant	1099/1308	1099/1308	367/435	D/H	Gac/Cac		1		-1	SLC38A8	HGNC	HGNC:32434	protein_coding	YES	CCDS32495.1	ENSP00000299709	A6NNN8		UPI0000D61A1F	NM_001080442.2	deleterious(0)		8/10		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF226																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	8	84016582	84016582	C	G	1	0	0	0	0	1	0	0	0	14888	826	29	4		4	SLC38A8	16	84016582	Missense_Mutation	SNP	C	C3L-00093_TP	11	84016582	6321763	102	3109			1	4		2	2	12	C		4.523475e-05
ANKRD11	0	.	GRCh38	chr16	89285036	89285036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaccagcggggaccccttGaggcagccagagctccccag	9	3	13	16	1	0	2	0	1	0	1	1	3	1	3	6	3	4	3	6	3	0	1	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.1506C>T	p.=	p.L502L	ENST00000301030	9/13	387	344	43	260	259	1	strelka-varscan-mutect	ANKRD11,synonymous_variant,p.=,ENST00000301030,NM_013275.5,NM_001256183.1;ANKRD11,synonymous_variant,p.=,ENST00000378330,NM_001256182.1;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,downstream_gene_variant,,ENST00000613312,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000378332,;ANKRD11,downstream_gene_variant,,ENST00000568100,;	A	ENST00000301030	Transcript	synonymous_variant	1967/9301	1506/7992	502/2663	L	ctC/ctT		1		-1	ANKRD11	HGNC	HGNC:21316	protein_coding	YES	CCDS32513.1	ENSP00000301030	Q6UB99		UPI00004569E1	NM_013275.5,NM_001256183.1			9/13		hmmpanther:PTHR24145:SF3,hmmpanther:PTHR24145																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	8	89285036	89285036	G	A	1	0	0	0	0	0	0	0	1	740	1277	45	3		3	ANKRD11	16	89285036	Silent	SNP	G	C3L-00093_TP	5268454	89285036	1053309	103	3110											
TP53	0	.	GRCh38	chr17	7673537	7673537	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcccaagacttagtacctGaagggtgaaatattctccat	12	11	9	9	0	1	3	0	2	1	1	3	3	2	3	3	2	1	1	3	2	6	4			C3L-00093_TP	C3L-00093_NB	G	G																c.991C>T	p.Gln331Ter	p.Q331*	ENST00000269305	9/11	382	351	31	290	289	1	strelka-varscan-mutect	TP53,stop_gained,p.Gln331Ter,ENST00000617185,NM_001126114.2;TP53,stop_gained,p.Gln331Ter,ENST00000420246,;TP53,stop_gained,p.Gln292Ter,ENST00000622645,NM_001276696.1;TP53,stop_gained,p.Gln292Ter,ENST00000610292,NM_001126118.1;TP53,stop_gained,p.Gln331Ter,ENST00000455263,NM_001126113.2;TP53,stop_gained,p.Gln292Ter,ENST00000610538,NM_001276695.1;TP53,stop_gained,p.Gln331Ter,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,stop_gained,p.Gln292Ter,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,stop_gained,p.Gln331Ter,ENST00000445888,;TP53,stop_gained,p.Gln292Ter,ENST00000619485,;TP53,stop_gained,p.Gln199Ter,ENST00000510385,NM_001126116.1;TP53,stop_gained,p.Gln172Ter,ENST00000618944,NM_001276698.1;TP53,stop_gained,p.Gln199Ter,ENST00000504290,NM_001126117.1;TP53,stop_gained,p.Gln172Ter,ENST00000610623,NM_001276699.1;TP53,stop_gained,p.Gln199Ter,ENST00000504937,NM_001126115.1;TP53,stop_gained,p.Gln172Ter,ENST00000619186,NM_001276697.1;TP53,stop_gained,p.Gln331Ter,ENST00000359597,;TP53,stop_gained,p.Gln320Ter,ENST00000615910,;TP53,stop_gained,p.Gln199Ter,ENST00000509690,;TP53,stop_gained,p.Gln18Ter,ENST00000576024,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,stop_gained,p.Gln292Ter,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	stop_gained,splice_region_variant	1181/2579	991/1182	331/393	Q/*	Cag/Tag	TP53_g.14063C>G,TP53_g.14063C>T,TP53_g.14063del,COSM11354,COSM1649348,COSM289612,COSM3522688	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5			9/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:1olgA00,Pfam_domain:PF07710,Superfamily_domains:SSF47719,Prints_domain:PR00386											0,0,0,1,1,1,1						HIGH	1	SNV	1		0,0,0,1,1,1,1	1										PASS		.	.												A	4	1	8	7673537	7673537	G	A	1	0	0	0	0	0	1	0	0	16859	1304	45	3		3	TP53	17	7673537	Nonsense_Mutation	SNP	G	C3L-00093_TP		7673537	75583904	104	3111											
KRT13	0	.	GRCh38	chr17	41503421	41503421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcctccacgctctggcGcagggccagctcattctcat	5	9	11	16	3	3	0	2	0	2	0	6	0	4	0	3	3	1	3	3	3	0	1	rs746117318		C3L-00093_TP	C3L-00093_NB	G	G																c.601C>T	p.Arg201Cys	p.R201C	ENST00000246635	3/8	349	311	38	240	240	0	strelka-varscan-mutect	KRT13,missense_variant,p.Arg201Cys,ENST00000246635,NM_153490.2;KRT13,missense_variant,p.Arg201Cys,ENST00000336861,NM_002274.3;KRT13,missense_variant,p.Arg201Cys,ENST00000587544,;KRT13,missense_variant,p.Arg94Cys,ENST00000590425,;KRT13,intron_variant,,ENST00000587435,;AC019349.5,downstream_gene_variant,,ENST00000411759,;KRT13,downstream_gene_variant,,ENST00000587118,;KRT13,upstream_gene_variant,,ENST00000475217,;KRT13,3_prime_UTR_variant,,ENST00000464634,;KRT13,non_coding_transcript_exon_variant,,ENST00000468313,;	A	ENST00000246635	Transcript	missense_variant	648/1699	601/1377	201/458	R/C	Cgc/Tgc	rs746117318,COSM3402887	1		-1	KRT13	HGNC	HGNC:6415	protein_coding	YES	CCDS11396.1	ENSP00000246635	P13646		UPI000013CBF6	NM_153490.2	deleterious(0.02)		3/8		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF121,SMART_domains:SM01391											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs746117318	.												A	3	1	8	41503421	41503421	G	A	1	0	0	0	0	1	0	0	0	8332	1087	38	1		1	KRT13	17	41503421	Missense_Mutation	SNP	G	C3L-00093_TP	33829884	41503421	41754020	105	3112											
KLHL11	0	.	GRCh38	chr17	41864961	41864961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacttgcgcatctccaccCgtcccgagcgggactcggaa	7	7	10	17	5	1	0	0	0	1	0	5	3	3	2	4	2	2	1	4	2	1	1	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.410G>A	p.Arg137Gln	p.R137Q	ENST00000319121	1/2	131	122	9	82	82	0	strelka-varscan-mutect	KLHL11,missense_variant,p.Arg137Gln,ENST00000319121,NM_018143.2;ACLY,downstream_gene_variant,,ENST00000352035,NM_001303274.1,NM_001096.2;ACLY,downstream_gene_variant,,ENST00000353196,NM_001303275.1,NM_198830.1;ACLY,downstream_gene_variant,,ENST00000590151,;ACLY,downstream_gene_variant,,ENST00000393896,;ACLY,downstream_gene_variant,,ENST00000537919,;RP11-229E13.4,upstream_gene_variant,,ENST00000619176,;ACLY,downstream_gene_variant,,ENST00000588779,;	T	ENST00000319121	Transcript	missense_variant	471/2383	410/2127	137/708	R/Q	cGg/cAg		1		-1	KLHL11	HGNC	HGNC:19008	protein_coding	YES	CCDS11411.1	ENSP00000314608	Q9NVR0	A0A024R1T8	UPI00000719F8	NM_018143.2	tolerated(0.18)		1/2		PROSITE_profiles:PS50097,hmmpanther:PTHR24413:SF115,hmmpanther:PTHR24413,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		rs1299648807	.												T	3	4	8	41864961	41864961	C	T	1	0	0	0	0	1	0	0	0	8231	652	23	1		1	KLHL11	17	41864961	Missense_Mutation	SNP	C	C3L-00093_TP	361540	41864961	41392480	106	3113											
KCNH6	0	.	GRCh38	chr17	63524210	63524210	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcaacgacggcttctgcGaactcttcggctactcccga	8	9	9	15	5	2	0	0	0	2	0	4	3	3	0	1	2	5	3	1	2	3	3			C3L-00093_TP	C3L-00093_NB	G	G																c.148G>T	p.Glu50Ter	p.E50*	ENST00000583023	2/14	427	405	22	244	244	0	strelka-varscan-mutect	KCNH6,stop_gained,p.Glu50Ter,ENST00000583023,NM_030779.3;KCNH6,stop_gained,p.Glu50Ter,ENST00000314672,NM_001278919.1,NM_001278920.1;KCNH6,stop_gained,p.Glu50Ter,ENST00000581784,NM_173092.2;KCNH6,stop_gained,p.Glu50Ter,ENST00000456941,;KCNH6,stop_gained,p.Glu50Ter,ENST00000580652,;KCNH6,stop_gained,p.Glu50Ter,ENST00000583465,;CTD-2501B8.1,downstream_gene_variant,,ENST00000577647,;ACE3P,downstream_gene_variant,,ENST00000423435,;	T	ENST00000583023	Transcript	stop_gained	159/3821	148/2985	50/994	E/*	Gaa/Taa	COSM4694353	1		1	KCNH6	HGNC	HGNC:18862	protein_coding	YES	CCDS11638.1	ENSP00000463533	Q9H252		UPI000012DCAB	NM_030779.3			2/14		Gene3D:3.30.450.20,Pfam_domain:PF13426,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF468,Superfamily_domains:SSF55785											1						HIGH	1	SNV	1		1	1										PASS		rs1398129760	.												T	4	4	8	63524210	63524210	G	T	1	0	0	0	0	0	1	0	0	7952	1059	37	1		1	KCNH6	17	63524210	Nonsense_Mutation	SNP	G	C3L-00093_TP	21659249	63524210	19733231	107	3114											
STRADA	0	.	GRCh38	chr17	63706724	63706724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagatgtcagacttggcatCataaccctggagattctaag	12	11	10	8	0	3	3	2	0	1	3	3	4	3	3	1	2	1	2	1	2	3	5	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.769G>A	p.Asp257Asn	p.D257N	ENST00000336174	10/13	197	175	22	98	98	0	strelka-varscan-mutect	STRADA,missense_variant,p.Asp196Asn,ENST00000245865,;STRADA,missense_variant,p.Asp220Asn,ENST00000392950,NM_153335.5;STRADA,missense_variant,p.Asp257Asn,ENST00000336174,NM_001003787.2;STRADA,missense_variant,p.Asp199Asn,ENST00000375840,NM_001003786.2,NM_001003788.2;STRADA,missense_variant,p.Asp213Asn,ENST00000447001,NM_001165970.1;STRADA,missense_variant,p.Met141Ile,ENST00000579340,;STRADA,missense_variant,p.Asp228Asn,ENST00000582137,NM_001165969.1;STRADA,missense_variant,p.Asp129Asn,ENST00000578008,;STRADA,missense_variant,p.Asp196Asn,ENST00000617949,;STRADA,missense_variant,p.Met96Ile,ENST00000578801,;STRADA,upstream_gene_variant,,ENST00000582026,;STRADA,downstream_gene_variant,,ENST00000580338,;STRADA,non_coding_transcript_exon_variant,,ENST00000580039,;RP11-51F16.1,downstream_gene_variant,,ENST00000623228,;STRADA,downstream_gene_variant,,ENST00000581505,;RP11-51F16.8,3_prime_UTR_variant,,ENST00000580553,;STRADA,upstream_gene_variant,,ENST00000583085,;STRADA,downstream_gene_variant,,ENST00000581243,;STRADA,downstream_gene_variant,,ENST00000577375,;	T	ENST00000336174	Transcript	missense_variant	882/2143	769/1296	257/431	D/N	Gat/Aat		1		-1	STRADA	HGNC	HGNC:30172	protein_coding	YES	CCDS32703.1	ENSP00000336655	Q7RTN6		UPI000013CBBE	NM_001003787.2	tolerated(0.71)		10/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF382,hmmpanther:PTHR24361,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	8	63706724	63706724	C	T	1	0	0	0	0	1	0	0	0	15705	826	29	3		3	STRADA	17	63706724	Missense_Mutation	SNP	C	C3L-00093_TP	182514	63706724	19550717	108	3115											
CD300C	0	.	GRCh38	chr17	74544936	74544936	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacggtcatggggtggctcaGaggaaaatagcctgaaaaat	14	7	13	7	1	2	2	2	1	0	1	2	3	2	3	1	5	1	1	1	5	5	1	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.73C>T	p.=	p.L25L	ENST00000330793	2/4	128	114	14	65	65	0	strelka-varscan-mutect	CD300C,synonymous_variant,p.=,ENST00000330793,NM_006678.4;AC079325.5,downstream_gene_variant,,ENST00000430386,;	A	ENST00000330793	Transcript	synonymous_variant	434/1517	73/675	25/224	L	Ctg/Ttg		1		-1	CD300C	HGNC	HGNC:19320	protein_coding	YES	CCDS11701.1	ENSP00000329507	Q08708		UPI0000127BB8	NM_006678.4			2/4		Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS50835,hmmpanther:PTHR11860:SF56,hmmpanther:PTHR11860																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	8	74544936	74544936	G	A	1	0	0	0	0	0	0	0	1	2701	933	33	3		3	CD300C	17	74544936	Silent	SNP	G	C3L-00093_TP	10838212	74544936	8712505	109	3116											
C19orf71	0	.	GRCh38	chr19	3543401	3543401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaacctgccacgggccccgGccagccccttccgcgaggcc	6	3	11	21	4	0	0	0	0	0	0	1	1	1	0	9	3	3	0	9	3	1	1	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.250G>T	p.Ala84Ser	p.A84S	ENST00000329493	2/4	221	199	22	173	173	0	strelka-varscan-mutect	C19orf71,missense_variant,p.Ala84Ser,ENST00000329493,NM_001135580.1;MFSD12,intron_variant,,ENST00000398558,;MFSD12,intron_variant,,ENST00000615073,;MFSD12,downstream_gene_variant,,ENST00000355415,NM_174983.4;MFSD12,downstream_gene_variant,,ENST00000389395,NM_001287529.1;MFSD12,downstream_gene_variant,,ENST00000589995,;MFSD12,upstream_gene_variant,,ENST00000615613,;MFSD12,downstream_gene_variant,,ENST00000589063,;MFSD12,downstream_gene_variant,,ENST00000592652,;AC005786.7,upstream_gene_variant,,ENST00000589360,;MFSD12,downstream_gene_variant,,ENST00000591878,;MFSD12,downstream_gene_variant,,ENST00000588918,;MFSD12,upstream_gene_variant,,ENST00000585788,;MFSD12,downstream_gene_variant,,ENST00000585814,;MFSD12,upstream_gene_variant,,ENST00000589157,;	T	ENST00000329493	Transcript	missense_variant	274/674	250/630	84/209	A/S	Gcc/Tcc		1		1	C19orf71	HGNC	HGNC:34496	protein_coding	YES	CCDS45918.1	ENSP00000327950	A6NCJ1		UPI000041AAB7	NM_001135580.1	tolerated(0.23)		2/4		hmmpanther:PTHR31254,Pfam_domain:PF15041																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	8	3543401	3543401	G	T	1	0	0	0	0	1	0	0	0	1924	1203	42	2		2	C19orf71	19	3543401	Missense_Mutation	SNP	G	C3L-00093_TP		3543401	55074215	110	3117											
TJP3	0	.	GRCh38	chr19	3746506	3746506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagcatgcgctcctggatGtgaccccctccgccatcgag	8	7	10	16	3	0	1	0	1	0	0	3	3	2	2	5	1	2	2	5	1	1	0	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.2059G>A	p.Val687Met	p.V687M	ENST00000589378	17/21	230	200	30	156	156	0	strelka-varscan-mutect	TJP3,missense_variant,p.Val678Met,ENST00000541714,NM_001267560.1;TJP3,missense_variant,p.Val687Met,ENST00000589378,NM_001267561.1;TJP3,missense_variant,p.Val697Met,ENST00000587686,;TJP3,missense_variant,p.Val642Met,ENST00000539908,;APBA3,downstream_gene_variant,,ENST00000316757,NM_004886.3;TJP3,upstream_gene_variant,,ENST00000587641,;TJP3,non_coding_transcript_exon_variant,,ENST00000591493,;APBA3,downstream_gene_variant,,ENST00000590064,;APBA3,downstream_gene_variant,,ENST00000588984,;TJP3,upstream_gene_variant,,ENST00000586032,;APBA3,downstream_gene_variant,,ENST00000591678,;APBA3,downstream_gene_variant,,ENST00000586991,;	A	ENST00000589378	Transcript	missense_variant	2215/3068	2059/2787	687/928	V/M	Gtg/Atg		1		1	TJP3	HGNC	HGNC:11829	protein_coding	YES	CCDS59332.1	ENSP00000465419	O95049		UPI00003E3015	NM_001267561.1	deleterious(0)		17/21		Gene3D:3.40.50.300,Pfam_domain:PF00625,PROSITE_profiles:PS50052,hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF11,SMART_domains:SM00072,Superfamily_domains:SSF52540																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	8	3746506	3746506	G	A	1	0	0	0	0	1	0	0	0	16373	1377	48	3		3	TJP3	19	3746506	Missense_Mutation	SNP	G	C3L-00093_TP	203105	3746506	54871110	111	3118											
KEAP1	0	.	GRCh38	chr19	10491944	10491944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcccaccttgggcgcccGgcagggcatcacctgcgtgg	4	5	16	16	4	1	0	1	0	0	0	1	0	1	0	4	5	1	2	4	5	0	1			C3L-00093_TP	C3L-00093_NB	G	G																c.958C>T	p.Arg320Trp	p.R320W	ENST00000171111	3/6	199	182	17	156	155	1	strelka-mutect	KEAP1,missense_variant,p.Arg320Trp,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Arg320Trp,ENST00000393623,NM_012289.3;KEAP1,upstream_gene_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000592055,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,downstream_gene_variant,,ENST00000588024,;KEAP1,downstream_gene_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590593,;KEAP1,upstream_gene_variant,,ENST00000590237,;	A	ENST00000171111	Transcript	missense_variant	1506/2955	958/1875	320/624	R/W	Cgg/Tgg	COSM1524062	1		-1	KEAP1	HGNC	HGNC:23177	protein_coding	YES	CCDS12239.1	ENSP00000171111	Q14145	A0A024R7C0	UPI000007139C	NM_203500.1	deleterious(0)		3/6		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	8	10491944	10491944	G	A	1	0	0	0	0	1	0	0	0	8061	1115	39	1		1	KEAP1	19	10491944	Missense_Mutation	SNP	G	C3L-00093_TP	6745438	10491944	48125672	112	3119											
FXYD1	0	.	GRCh38	chr19	35141181	35141181	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcatcgccgggatcctcttCatcctgggcatcctcatcgt	5	12	9	15	3	4	0	3	0	1	0	9	1	7	1	4	2	0	1	4	2	0	1	rs762504988		C3L-00093_TP	C3L-00093_NB	C	C																c.144C>T	p.=	p.F48F	ENST00000612146	4/8	339	205	134	118	118	0	strelka-varscan-mutect	FXYD1,synonymous_variant,p.=,ENST00000612146,NM_001278717.1;FXYD1,synonymous_variant,p.=,ENST00000588081,;FXYD1,synonymous_variant,p.=,ENST00000588607,;FXYD1,synonymous_variant,p.=,ENST00000455515,NM_005031.4;FXYD1,synonymous_variant,p.=,ENST00000351325,NM_021902.3;FXYD1,synonymous_variant,p.=,ENST00000589121,;FXYD1,synonymous_variant,p.=,ENST00000588715,NM_001278718.1;FXYD1,synonymous_variant,p.=,ENST00000589209,;FXYD7,upstream_gene_variant,,ENST00000270310,NM_022006.1;FXYD7,upstream_gene_variant,,ENST00000588265,;FXYD7,upstream_gene_variant,,ENST00000586063,;CTD-2527I21.4,non_coding_transcript_exon_variant,,ENST00000592174,;CTD-2527I21.4,non_coding_transcript_exon_variant,,ENST00000586871,;LGI4,intron_variant,,ENST00000493050,;CTD-2527I21.5,upstream_gene_variant,,ENST00000624372,;FXYD1,non_coding_transcript_exon_variant,,ENST00000592818,;FXYD1,non_coding_transcript_exon_variant,,ENST00000590462,;FXYD1,non_coding_transcript_exon_variant,,ENST00000587056,;FXYD7,upstream_gene_variant,,ENST00000439441,;	T	ENST00000612146	Transcript	synonymous_variant	388/690	144/279	48/92	F	ttC/ttT	rs762504988	1		1	FXYD1	HGNC	HGNC:4025	protein_coding	YES	CCDS12445.1	ENSP00000481244	O00168		UPI0000032CBA	NM_001278717.1			4/8		Gene3D:1.20.5.780,PD005989,Pfam_domain:PF02038,hmmpanther:PTHR14132,hmmpanther:PTHR14132:SF12,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW		SNV	3			1										PASS		rs762504988	.												T	2	4	8	35141181	35141181	C	T	1	0	0	0	0	0	0	0	1	5988	825	29	3		3	FXYD1	19	35141181	Silent	SNP	C	C3L-00093_TP	24649237	35141181	23476435	113	3120											
GPR42	0	.	GRCh38	chr19	35372313	35372313	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagggaggggaggagcaGagagcggaccgaccagctga	13	1	19	8	2	0	3	0	1	0	2	0	9	0	7	2	5	3	2	2	5	1	0	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.954G>C	p.Gln318His	p.Q318H	ENST00000597214	1/1	297	192	105	99	99	0	strelka-varscan-mutect	GPR42,missense_variant,p.Gln318His,ENST00000454971,;GPR42,missense_variant,p.Gln318His,ENST00000597214,;	C	ENST00000597214	Transcript	missense_variant	1024/1182	954/1041	318/346	Q/H	caG/caC		1		1	GPR42	HGNC	HGNC:4500	protein_coding	YES		ENSP00000473212	O15529	A0A0K0PUY3	UPI0000040740		tolerated(0.16)		1/1		hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF40																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	8	35372313	35372313	G	C	1	0	0	0	0	1	0	0	0	6580	933	33	4		4	GPR42	19	35372313	Missense_Mutation	SNP	G	C3L-00093_TP	231132	35372313	23245303	114	3121											
CYP2A13	0	.	GRCh38	chr19	41090108	41090108	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcttctccatcgccaccctAaggggttttggcgtgggcaa	6	10	12	13	3	1	0	0	0	1	0	3	0	1	0	3	4	0	3	3	4	2	4	rs199984436		C3L-00093_TP	C3L-00093_NB	A	A																c.405A>G	p.=	p.L135L	ENST00000330436	3/9	90	81	9	57	56	1	varscan-mutect	CYP2A13,synonymous_variant,p.=,ENST00000330436,NM_000766.4;	G	ENST00000330436	Transcript	synonymous_variant	405/1739	405/1485	135/494	L	ctA/ctG	rs199984436	1		1	CYP2A13	HGNC	HGNC:2608	protein_coding	YES	CCDS12571.1	ENSP00000332679	Q16696		UPI000013E07A	NM_000766.4			3/9		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF186,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	LOW	1	SNV	1			1										PASS		rs199984436	.												G	2	3	8	41090108	41090108	A	G	1	0	0	0	0	0	0	0	1	3964	349	13	5		5	CYP2A13	19	41090108	Silent	SNP	A	C3L-00093_TP	5717795	41090108	17527508	115	3122											
SLC8A2	0	.	GRCh38	chr19	47465941	47465941	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccagctcacccgcctggaAgttgtggccgcagacttcga	7	7	12	15	3	1	1	1	0	0	1	2	3	1	2	4	2	1	3	4	2	1	2	novel		C3L-00093_TP	C3L-00093_NB	A	A																c.463T>C	p.Phe155Leu	p.F155L	ENST00000236877	2/10	284	249	35	200	199	1	strelka-varscan-mutect	SLC8A2,missense_variant,p.Phe155Leu,ENST00000236877,NM_015063.2;SLC8A2,missense_variant,p.Phe62Leu,ENST00000594353,;SLC8A2,missense_variant,p.Phe77Leu,ENST00000597014,;SLC8A2,intron_variant,,ENST00000542837,;SLC8A2,intron_variant,,ENST00000539381,;	G	ENST00000236877	Transcript	missense_variant	859/5234	463/2766	155/921	F/L	Ttc/Ctc		1		-1	SLC8A2	HGNC	HGNC:11069	protein_coding	YES	CCDS33065.1	ENSP00000236877	Q9UPR5		UPI000012FC49	NM_015063.2	deleterious(0)		2/10		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF8,TIGRFAM_domain:TIGR00845,Pfam_domain:PF01699																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	8	47465941	47465941	A	G	1	0	0	0	0	1	0	0	0	14990	72	3	5		5	SLC8A2	19	47465941	Missense_Mutation	SNP	A	C3L-00093_TP	6375833	47465941	11151675	116	3123											
ZNF8	0	.	GRCh38	chr19	58279097	58279097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcatggaccccgaggacGaaggggtagcgggagtgatg	10	4	18	9	3	0	1	0	1	0	0	0	6	0	4	3	5	2	2	3	5	2	1			C3L-00093_TP	C3L-00093_NB	G	G																c.16G>A	p.Glu6Lys	p.E6K	ENST00000621650	1/4	29	25	4	24	24	0	strelka-mutect	ZNF8,missense_variant,p.Glu6Lys,ENST00000621650,NM_021089.2;ZNF544,downstream_gene_variant,,ENST00000595981,;ZNF544,downstream_gene_variant,,ENST00000596929,;CTD-3138B18.5,upstream_gene_variant,,ENST00000597230,;AC010642.1,missense_variant,p.Glu6Lys,ENST00000591325,;CTD-3138B18.4,intron_variant,,ENST00000637233,;CTD-3138B18.4,intron_variant,,ENST00000637310,;	A	ENST00000621650	Transcript	missense_variant	147/9128	16/1728	6/575	E/K	Gaa/Aaa	COSM5441315	1		1	ZNF8	HGNC	HGNC:13154	protein_coding	YES	CCDS12974.1	ENSP00000477716	P17098		UPI0000185FEA	NM_021089.2	tolerated(0.11)		1/4		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF186											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	8	58279097	58279097	G	A	1	0	0	0	0	1	0	0	0	18752	1059	37	1		1	ZNF8	19	58279097	Missense_Mutation	SNP	G	C3L-00093_TP	10813156	58279097	338519	117	3124											
C20orf196	0	.	GRCh38	chr20	5863369	5863369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttctacccactggaggaagGaagtacatctttggatgatg	11	11	11	8	0	2	1	0	1	2	0	2	5	2	5	1	4	2	1	1	4	4	4	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.524G>A	p.Gly175Glu	p.G175E	ENST00000303142	3/3	258	245	13	143	143	0	strelka-varscan-mutect	C20orf196,missense_variant,p.Gly175Glu,ENST00000303142,NM_001303477.1,NM_152504.3;C20orf196,downstream_gene_variant,,ENST00000442185,;C20orf196,downstream_gene_variant,,ENST00000445603,;	A	ENST00000303142	Transcript	missense_variant	611/1154	524/618	175/205	G/E	gGa/gAa		1		1	C20orf196	HGNC	HGNC:26318	protein_coding	YES	CCDS13091.1	ENSP00000305875	Q8IYI0		UPI0000074251	NM_001303477.1,NM_152504.3	tolerated(0.11)		3/3		Pfam_domain:PF15021,hmmpanther:PTHR36863,hmmpanther:PTHR36863:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	8	5863369	5863369	G	A	1	0	0	0	0	1	0	0	0	2006	1174	41	3		3	C20orf196	20	5863369	Missense_Mutation	SNP	G	C3L-00093_TP		5863369	58580798	118	3125											
MKKS	0	.	GRCh38	chr20	10405300	10405300	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaatcaaattggctgtctCtacagccacctgtaggccac	12	9	7	13	0	2	0	1	0	1	0	3	0	2	0	3	2	2	2	3	2	5	3			C3L-00093_TP	C3L-00093_NB	C	C																c.1660G>C	p.Glu554Gln	p.E554Q	ENST00000347364	6/6	144	131	13	100	100	0	strelka-mutect	MKKS,missense_variant,p.Glu554Gln,ENST00000347364,NM_170784.2;MKKS,missense_variant,p.Glu554Gln,ENST00000399054,NM_018848.3;	G	ENST00000347364	Transcript	missense_variant	2423/6714	1660/1713	554/570	E/Q	Gag/Cag	COSM5208246	1		-1	MKKS	HGNC	HGNC:7108	protein_coding	YES	CCDS13111.1	ENSP00000246062	Q9NPJ1		UPI000012F199	NM_170784.2	deleterious(0)		6/6		Gene3D:1.10.560.10,Pfam_domain:PF00118,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF77,Superfamily_domains:SSF48592											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	8	10405300	10405300	C	G	1	0	0	0	0	1	0	0	0	9567	922	32	4		4	MKKS	20	10405300	Missense_Mutation	SNP	C	C3L-00093_TP	4541931	10405300	54038867	119	3126											
MKKS	0	.	GRCh38	chr20	10412944	10412944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctaaaatgatgtggccttCagcattttctggaattgtaa	11	15	8	7	0	2	1	1	1	1	0	3	2	3	2	2	2	1	2	2	2	4	6	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.571G>A	p.Glu191Lys	p.E191K	ENST00000347364	3/6	262	236	26	143	143	0	strelka-varscan-mutect	MKKS,missense_variant,p.Glu191Lys,ENST00000347364,NM_170784.2;MKKS,missense_variant,p.Glu191Lys,ENST00000399054,NM_018848.3;MKKS,downstream_gene_variant,,ENST00000609375,;	T	ENST00000347364	Transcript	missense_variant	1334/6714	571/1713	191/570	E/K	Gaa/Aaa		1		-1	MKKS	HGNC	HGNC:7108	protein_coding	YES	CCDS13111.1	ENSP00000246062	Q9NPJ1		UPI000012F199	NM_170784.2	tolerated(0.47)		3/6		Pfam_domain:PF00118,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF77																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	8	10412944	10412944	C	T	1	0	0	0	0	1	0	0	0	9567	835	29	3		3	MKKS	20	10412944	Missense_Mutation	SNP	C	C3L-00093_TP	7644	10412944	54031223	120	3127											
KIF16B	0	.	GRCh38	chr20	16526129	16526129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatctgggctttttgtatcaGcagaataaaaagaaaagtca	17	11	8	5	0	3	2	2	0	1	2	3	2	3	2	0	1	1	3	0	1	8	4	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.194C>T	p.Ala65Val	p.A65V	ENST00000408042	3/23	182	154	28	142	142	0	strelka-varscan-mutect	KIF16B,missense_variant,p.Ala65Val,ENST00000354981,NM_024704.4;KIF16B,missense_variant,p.Ala65Val,ENST00000636835,NM_001199865.1;KIF16B,missense_variant,p.Ala65Val,ENST00000408042,NM_001199866.1;	A	ENST00000408042	Transcript	missense_variant	352/4640	194/4179	65/1392	A/V	gCt/gTt		1		-1	KIF16B	HGNC	HGNC:15869	protein_coding	YES	CCDS56178.1	ENSP00000384164	Q96L93		UPI00003BF77C	NM_001199866.1	tolerated(0.71)		3/23		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF400,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	8	16526129	16526129	G	A	1	0	0	0	0	1	0	0	0	8142	971	34	3		3	KIF16B	20	16526129	Missense_Mutation	SNP	G	C3L-00093_TP	6113185	16526129	47918038	121	3128											
PCMTD2	0	.	GRCh38	chr20	64264502	64264502	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaagcagaaactggacttCttcatcagaacaagtgatag	16	8	9	8	0	3	3	2	1	1	2	3	4	3	4	0	1	3	2	0	1	5	3	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.381C>T	p.=	p.F127F	ENST00000308824	3/6	246	231	15	187	187	0	strelka-varscan-mutect	PCMTD2,synonymous_variant,p.=,ENST00000308824,NM_018257.2;PCMTD2,synonymous_variant,p.=,ENST00000369758,NM_001104925.1;PCMTD2,synonymous_variant,p.=,ENST00000299468,;PCMTD2,synonymous_variant,p.=,ENST00000609764,;PCMTD2,synonymous_variant,p.=,ENST00000610074,;PCMTD2,intron_variant,,ENST00000609372,;PCMTD2,upstream_gene_variant,,ENST00000609818,;PCMTD2,downstream_gene_variant,,ENST00000610196,;PCMTD2,downstream_gene_variant,,ENST00000609297,;PCMTD2,downstream_gene_variant,,ENST00000608844,;	T	ENST00000308824	Transcript	synonymous_variant	508/3843	381/1086	127/361	F	ttC/ttT		1		1	PCMTD2	HGNC	HGNC:15882	protein_coding	YES	CCDS13559.1	ENSP00000307854	Q9NV79		UPI0000049C88	NM_018257.2			3/6		Gene3D:3.40.50.150,Pfam_domain:PF01135,hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF2,Superfamily_domains:SSF53335																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	8	64264502	64264502	C	T	1	0	0	0	0	0	0	0	1	11675	912	32	3		3	PCMTD2	20	64264502	Silent	SNP	C	C3L-00093_TP	47738373	64264502	179665	122	3129											
SH3BGR	0	.	GRCh38	chr21	39452125	39452125	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagtgtttgttgctacatCttctgggtccatagcggtag	8	14	11	8	1	2	0	0	0	2	0	3	0	3	0	1	2	3	4	1	2	4	6			C3L-00093_TP	C3L-00093_NB	C	C																c.218C>G	p.Ser73Cys	p.S73C	ENST00000333634	1/7	445	403	42	271	271	0	strelka-varscan-mutect	SH3BGR,missense_variant,p.Ser73Cys,ENST00000333634,NM_007341.2;SH3BGR,missense_variant,p.Ser2Cys,ENST00000452550,;SH3BGR,intron_variant,,ENST00000380637,NM_001317742.1,NM_001001713.1;SH3BGR,intron_variant,,ENST00000380634,;SH3BGR,intron_variant,,ENST00000458295,;SH3BGR,intron_variant,,ENST00000380631,;SH3BGR,intron_variant,,ENST00000440288,;	G	ENST00000333634	Transcript	missense_variant	296/1251	218/720	73/239	S/C	tCt/tGt	COSM1713998	1		1	SH3BGR	HGNC	HGNC:10822	protein_coding	YES	CCDS13666.1	ENSP00000332513	P55822		UPI00001B03C6	NM_007341.2	deleterious(0.02)		1/7		Gene3D:3.40.30.10,Pfam_domain:PF04908,hmmpanther:PTHR12232,hmmpanther:PTHR12232:SF1,Superfamily_domains:SSF52833											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	8	39452125	39452125	C	G	1	0	0	0	0	1	0	0	0	14498	913	32	4		4	SH3BGR	21	39452125	Missense_Mutation	SNP	C	C3L-00093_TP		39452125	7257858	123	3130											
OTC	0	.	GRCh38	chrX	38403712	38403712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatgagcgcagcgaaattcgGaatgcaccttcaggcagcta	12	7	12	10	3	1	1	1	1	0	0	2	4	1	2	1	2	4	4	1	2	3	3	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.635G>A	p.Gly212Glu	p.G212E	ENST00000039007	6/10	565	521	44	415	415	0	strelka-varscan-mutect	OTC,missense_variant,p.Gly212Glu,ENST00000039007,NM_000531.5;RP5-972B16.2,intron_variant,,ENST00000465127,;OTC,downstream_gene_variant,,ENST00000488812,;	A	ENST00000039007	Transcript	missense_variant	787/1585	635/1065	212/354	G/E	gGa/gAa		1		1	OTC	HGNC	HGNC:8512	protein_coding	YES	CCDS14247.1	ENSP00000039007	P00480		UPI000013C550	NM_000531.5	deleterious(0)		6/10		Gene3D:3.40.50.1370,Pfam_domain:PF00185,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF1,Superfamily_domains:SSF53671,TIGRFAM_domain:TIGR00658																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	8	38403712	38403712	G	A	1	0	0	0	0	1	0	0	0	11367	1174	41	3		3	OTC	23	38403712	Missense_Mutation	SNP	G	C3L-00093_TP		38403712	117637183	124	3131											
FRMPD3	0	.	GRCh38	chrX	107602138	107602138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagtgccgatcggaccctGagagtggtgtttcgtgcctg	6	10	16	9	3	0	2	0	1	0	2	2	6	0	3	3	2	2	1	3	2	0	1	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.4198G>A	p.Glu1400Lys	p.E1400K	ENST00000276185	16/16	133	126	7	102	102	0	strelka-varscan-mutect	FRMPD3,missense_variant,p.Glu1400Lys,ENST00000276185,NM_032428.1;FRMPD3,missense_variant,p.Glu1348Lys,ENST00000439554,;	A	ENST00000276185	Transcript	missense_variant	4198/7304	4198/5433	1400/1810	E/K	Gag/Aag		1		1	FRMPD3	HGNC	HGNC:29382	protein_coding	YES	CCDS76006.1	ENSP00000276185	Q5JV73		UPI00006C1C33	NM_032428.1	deleterious_low_confidence(0)		16/16																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	8	107602138	107602138	G	A	1	0	0	0	0	1	0	0	0	5929	1291	45	3		3	FRMPD3	23	107602138	Missense_Mutation	SNP	G	C3L-00093_TP	69198426	107602138	48438757	125	3132											
MAGEA4	0	.	GRCh38	chrX	151924554	151924554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggtcagggtcaatgcaaGagttcgcattgcctacccat	9	11	11	10	1	2	1	2	0	0	1	3	1	2	1	2	2	3	3	2	2	3	3	novel		C3L-00093_TP	C3L-00093_NB	G	G																c.890G>C	p.Arg297Thr	p.R297T	ENST00000360243	3/3	135	126	9	80	80	0	varscan-mutect	MAGEA4,missense_variant,p.Arg297Thr,ENST00000360243,NM_001011550.1;MAGEA4,missense_variant,p.Arg297Thr,ENST00000370335,;MAGEA4,missense_variant,p.Arg297Thr,ENST00000370340,;MAGEA4,missense_variant,p.Arg297Thr,ENST00000393921,;MAGEA4,missense_variant,p.Arg297Thr,ENST00000276344,NM_001011548.1;MAGEA4,missense_variant,p.Arg297Thr,ENST00000393920,NM_002362.4,NM_001011549.1;MAGEA4,downstream_gene_variant,,ENST00000416020,;MAGEA4,downstream_gene_variant,,ENST00000431971,;MAGEA4,downstream_gene_variant,,ENST00000441865,;MAGEA4,downstream_gene_variant,,ENST00000457310,;MAGEA4,downstream_gene_variant,,ENST00000430273,;MAGEA4,downstream_gene_variant,,ENST00000425182,;MAGEA4,downstream_gene_variant,,ENST00000448295,;MAGEA4,downstream_gene_variant,,ENST00000431963,;	C	ENST00000360243	Transcript	missense_variant	1157/1773	890/954	297/317	R/T	aGa/aCa		1		1	MAGEA4	HGNC	HGNC:6802	protein_coding	YES	CCDS14702.1	ENSP00000353379	P43358	A0A024RC12	UPI000013EA1F	NM_001011550.1	tolerated(1)		3/3		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF48,hmmpanther:PTHR11736																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	8	151924554	151924554	G	C	1	0	0	0	0	1	0	0	0	9084	942	33	4		4	MAGEA4	23	151924554	Missense_Mutation	SNP	G	C3L-00093_TP	44322416	151924554	4116341	126	3133											
TREX2	0	.	GRCh38	chrX	153445128	153445128	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcggctcaggaaggcctgCagcgtccgcaccacggcgcc	6	4	15	16	5	1	0	1	0	0	0	2	1	2	1	4	5	2	3	4	5	1	0	novel		C3L-00093_TP	C3L-00093_NB	C	C																c.303G>T	p.=	p.L101L	ENST00000330912	13/13	144	125	19	119	119	0	strelka-mutect	TREX2,synonymous_variant,p.=,ENST00000330912,;TREX2,synonymous_variant,p.=,ENST00000338525,;TREX2,synonymous_variant,p.=,ENST00000334497,;TREX2,synonymous_variant,p.=,ENST00000370232,;TREX2,synonymous_variant,p.=,ENST00000370231,NM_080701.3;TREX2,synonymous_variant,p.=,ENST00000393862,;TREX2,synonymous_variant,p.=,ENST00000370212,;HAUS7,downstream_gene_variant,,ENST00000370211,NM_017518.7;HAUS7,downstream_gene_variant,,ENST00000435662,;HAUS7,downstream_gene_variant,,ENST00000484394,;HAUS7,downstream_gene_variant,,ENST00000491286,;HAUS7,downstream_gene_variant,,ENST00000437046,;HAUS7,downstream_gene_variant,,ENST00000460898,;	A	ENST00000330912	Transcript	synonymous_variant	1854/2262	303/711	101/236	L	ctG/ctT		1		-1	TREX2	HGNC	HGNC:12270	protein_coding	YES	CCDS35437.1	ENSP00000333441	Q9BQ50		UPI000006F0D9				13/13		Gene3D:3.30.420.10,hmmpanther:PTHR13058,hmmpanther:PTHR13058:SF20,SMART_domains:SM00479,Superfamily_domains:SSF53098																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	8	153445128	153445128	C	A	1	0	0	0	0	0	0	0	1	16966	697	25	2		2	TREX2	23	153445128	Silent	SNP	C	C3L-00093_TP	1520574	153445128	2595767	127	3134											
C1orf94	0	.	GRCh38	chr1	34200854	34200854	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagagccagaaggacgcCtgtggtgaggagggttgctg	8	6	17	10	1	0	3	0	1	0	2	0	5	0	5	4	4	2	2	4	4	1	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.1092C>A	p.=	p.A364A	ENST00000488417	3/7	331	251	80	342	342	0	strelka-varscan-mutect	C1orf94,synonymous_variant,p.=,ENST00000488417,NM_001134734.1;C1orf94,synonymous_variant,p.=,ENST00000373374,NM_032884.4;	A	ENST00000488417	Transcript	synonymous_variant	1212/2287	1092/1797	364/598	A	gcC/gcA		1		1	C1orf94	HGNC	HGNC:28250	protein_coding	YES	CCDS44108.1	ENSP00000435634	Q6P1W5		UPI0000D4BFB0	NM_001134734.1			3/7		hmmpanther:PTHR35674,hmmpanther:PTHR35674:SF1,Pfam_domain:PF15752																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	9	34200854	34200854	C	A	1	0	0	0	0	0	0	0	1	2000	668	24	2		2	C1orf94	1	34200854	Silent	SNP	C	C3L-00094_TP		34200854	214755568	1	3135											
ADPRHL2	0	.	GRCh38	chr1	36091260	36091260	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaagccttgtactacacAgatgacacagccatggccag	14	6	9	12	0	0	3	0	1	0	2	0	3	0	3	3	1	4	1	3	1	3	3	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.228A>T	p.=	p.T76T	ENST00000373178	2/6	198	156	42	187	187	0	strelka-varscan-mutect	ADPRHL2,synonymous_variant,p.=,ENST00000373178,NM_017825.2;COL8A2,downstream_gene_variant,,ENST00000397799,NM_005202.3;COL8A2,downstream_gene_variant,,ENST00000303143,;TEKT2,downstream_gene_variant,,ENST00000207457,NM_014466.2;TEKT2,downstream_gene_variant,,ENST00000473120,;TEKT2,downstream_gene_variant,,ENST00000469024,;	T	ENST00000373178	Transcript	synonymous_variant	258/1668	228/1092	76/363	T	acA/acT		1		1	ADPRHL2	HGNC	HGNC:21304	protein_coding	YES	CCDS402.1	ENSP00000362273	Q9NX46		UPI0000039EBB	NM_017825.2			2/6		hmmpanther:PTHR16222:SF19,hmmpanther:PTHR16222,Pfam_domain:PF03747,Superfamily_domains:0043888																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	9	36091260	36091260	A	T	1	0	0	0	0	0	0	0	1	408	175	7	4		4	ADPRHL2	1	36091260	Silent	SNP	A	C3L-00094_TP	1890406	36091260	212865162	2	3136											
VCAM1	0	.	GRCh38	chr1	100734534	100734534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acataaaacttacagcttttCcttctgagagtgtcaaagaa	15	12	6	8	0	2	2	1	1	1	2	3	3	3	2	1	0	3	1	1	0	5	5	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.1825C>A	p.Pro609Thr	p.P609T	ENST00000294728	8/9	127	120	7	182	179	3	strelka-varscan-mutect	VCAM1,missense_variant,p.Pro609Thr,ENST00000294728,NM_001078.3;VCAM1,missense_variant,p.Pro517Thr,ENST00000347652,NM_080682.2;VCAM1,missense_variant,p.Pro547Thr,ENST00000370119,NM_001199834.1;VCAM1,missense_variant,p.Pro410Thr,ENST00000370115,;VCAM1,upstream_gene_variant,,ENST00000603679,;	A	ENST00000294728	Transcript	missense_variant	1926/3083	1825/2220	609/739	P/T	Cct/Act		1		1	VCAM1	HGNC	HGNC:12663	protein_coding	YES	CCDS773.1	ENSP00000294728	P19320		UPI0000000E06	NM_001078.3	deleterious(0)		8/9		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF729,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	100734534	100734534	C	A	1	0	0	0	0	1	0	0	0	17682	855	30	2		2	VCAM1	1	100734534	Missense_Mutation	SNP	C	C3L-00094_TP	64643274	100734534	148221888	3	3137											
TCHH	0	.	GRCh38	chr1	152108635	152108635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaattttctctgccgttGctggcggtgcagctgctgtt	4	14	14	9	2	1	0	0	0	1	0	2	2	1	1	1	3	5	6	1	3	1	4	rs200833723		C3L-00094_TP	C3L-00094_NB	G	G																c.4582C>G	p.Gln1528Glu	p.Q1528E	ENST00000614923	3/3	163	154	9	203	201	2	varscan-mutect	TCHH,missense_variant,p.Gln1528Glu,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Gln1528Glu,ENST00000368804,;	C	ENST00000614923	Transcript	missense_variant	4677/6995	4582/5832	1528/1943	Q/E	Caa/Gaa	rs200833723,COSM2184176	1		-1	TCHH	HGNC	HGNC:11791	protein_coding	YES	CCDS41396.1	ENSP00000480484	Q07283		UPI0000458A5E	NM_007113.3	tolerated_low_confidence(1)		3/3		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855:SF1,hmmpanther:PTHR34855											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs200833723	.												C	3	2	9	152108635	152108635	G	C	1	0	0	0	0	1	0	0	0	16107	1328	46	4		4	TCHH	1	152108635	Missense_Mutation	SNP	G	C3L-00094_TP	51374101	152108635	96847787	4	3138											
VSIG8	0	.	GRCh38	chr1	159856014	159856014	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgagcccccagatgcctacGgccaggcagcccagcgcgag	9	2	13	17	4	0	1	0	0	0	1	0	3	0	1	5	2	5	1	5	2	1	1	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.840C>A	p.=	p.A280A	ENST00000368100	6/7	344	261	83	219	219	0	strelka-varscan-mutect	VSIG8,synonymous_variant,p.=,ENST00000368100,NM_001013661.1;C1orf204,upstream_gene_variant,,ENST00000368102,NM_001134233.1;C1orf204,upstream_gene_variant,,ENST00000621242,;SNORD64,upstream_gene_variant,,ENST00000390859,;C1orf204,upstream_gene_variant,,ENST00000491974,;RP11-190A12.7,downstream_gene_variant,,ENST00000537167,;RP11-190A12.7,downstream_gene_variant,,ENST00000536764,;RP11-190A12.7,downstream_gene_variant,,ENST00000543372,;RP11-190A12.7,downstream_gene_variant,,ENST00000544342,;RP11-190A12.7,downstream_gene_variant,,ENST00000536779,;	T	ENST00000368100	Transcript	synonymous_variant	976/1818	840/1245	280/414	A	gcC/gcA		1		-1	VSIG8	HGNC	HGNC:32063	protein_coding	YES	CCDS30913.1	ENSP00000357080	Q5VU13		UPI0000458A8F	NM_001013661.1			6/7		Transmembrane_helices:TMhelix,hmmpanther:PTHR12231:SF142,hmmpanther:PTHR12231																	LOW	1	SNV	1			1										PASS		rs1310780074	.												T	2	4	9	159856014	159856014	G	T	1	0	0	0	0	0	0	0	1	17777	1103	39	1		1	VSIG8	1	159856014	Silent	SNP	G	C3L-00094_TP	7747379	159856014	89100408	5	3139											
FCGR2B	0	.	GRCh38	chr1	161677545	161677545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcctgatgaccagaacCgtatttagtctccattgtct	11	12	8	10	1	2	4	0	2	2	2	3	4	2	4	4	0	2	1	4	0	4	4			C3L-00094_TP	C3L-00094_NB	C	C																c.925C>T	p.Arg309Cys	p.R309C	ENST00000358671	8/8	186	146	40	137	137	0	strelka-varscan-mutect	FCGR2B,missense_variant,p.Arg309Cys,ENST00000358671,NM_004001.4,NM_001002275.2;FCGR2B,missense_variant,p.Arg302Cys,ENST00000367961,NM_001190828.1;FCGR2B,missense_variant,p.Arg290Cys,ENST00000236937,NM_001002274.2,NM_001002273.2;RP11-25K21.1,upstream_gene_variant,,ENST00000626340,;RP11-25K21.1,upstream_gene_variant,,ENST00000453111,;FCGR2B,non_coding_transcript_exon_variant,,ENST00000480308,;FCGR2B,downstream_gene_variant,,ENST00000485778,;	T	ENST00000358671	Transcript	missense_variant	1006/2115	925/933	309/310	R/C	Cgt/Tgt	COSM5052744	1		1	FCGR2B	HGNC	HGNC:3618	protein_coding	YES	CCDS30924.1	ENSP00000351497	P31994		UPI0000001600	NM_004001.4,NM_001002275.2	deleterious(0)		8/8													1						MODERATE	1	SNV	1		1	1										PASS		rs1429964368	.												T	3	4	9	161677545	161677545	C	T	1	0	0	0	0	1	0	0	0	5645	652	23	1		1	FCGR2B	1	161677545	Missense_Mutation	SNP	C	C3L-00094_TP	1821531	161677545	87278877	6	3140											
MYOC	0	.	GRCh38	chr1	171652475	171652475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaaggtatactggcatCggccactctggtcattggcc	8	10	11	12	1	2	1	1	1	1	0	3	1	2	1	2	5	1	2	2	5	3	3	rs769391104		C3L-00094_TP	C3L-00094_NB	C	C																c.137G>T	p.Arg46Leu	p.R46L	ENST00000037502	1/3	386	345	41	257	256	1	strelka-varscan-mutect	MYOC,missense_variant,p.Arg46Leu,ENST00000037502,NM_000261.1;	A	ENST00000037502	Transcript	missense_variant	209/2095	137/1515	46/504	R/L	cGa/cTa	rs769391104	1		-1	MYOC	HGNC	HGNC:7610	protein_coding	YES	CCDS1297.1	ENSP00000037502	Q99972	A0A0S2Z421	UPI00000012D6	NM_000261.1	tolerated(0.06)		1/3		hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF33																	MODERATE	1	SNV	1			1										PASS		rs769391104	.												A	3	1	9	171652475	171652475	C	A	1	0	0	0	0	1	0	0	0	10087	884	31	1		1	MYOC	1	171652475	Missense_Mutation	SNP	C	C3L-00094_TP	9974930	171652475	77303947	7	3141											
LAD1	0	.	GRCh38	chr1	201386778	201386778	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttttatcggagaccaGgctcttttcaggtgccgtct	6	13	13	9	2	3	1	1	0	2	1	4	3	3	2	2	5	1	2	2	5	1	4	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.583C>T	p.=	p.L195L	ENST00000391967	3/10	317	282	35	208	208	0	strelka-varscan-mutect	LAD1,synonymous_variant,p.=,ENST00000391967,NM_005558.3;LAD1,synonymous_variant,p.=,ENST00000367313,;LAD1,downstream_gene_variant,,ENST00000633953,;LAD1,upstream_gene_variant,,ENST00000503578,;LAD1,downstream_gene_variant,,ENST00000632743,;LAD1,downstream_gene_variant,,ENST00000631576,;LAD1,upstream_gene_variant,,ENST00000488842,;LAD1,upstream_gene_variant,,ENST00000475136,;	A	ENST00000391967	Transcript	synonymous_variant	885/2906	583/1554	195/517	L	Ctg/Ttg		1		-1	LAD1	HGNC	HGNC:6472	protein_coding	YES	CCDS1410.1	ENSP00000375829	O00515		UPI000006CD59	NM_005558.3			3/10		hmmpanther:PTHR12392,PIRSF_domain:PIRSF038144																	LOW	1	SNV	1			1										PASS		rs1200525264	.												A	2	1	9	201386778	201386778	G	A	1	0	0	0	0	0	0	0	1	8503	991	35	3		3	LAD1	1	201386778	Silent	SNP	G	C3L-00094_TP	29734303	201386778	47569644	8	3142											
PPP1R15B	0	.	GRCh38	chr1	204411350	204411350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagggaaaaagggtggcCagaaccggaagcccgcccga	12	1	16	12	4	0	1	0	0	0	1	0	5	0	3	5	4	2	0	5	4	4	0	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.62G>T	p.Trp21Leu	p.W21L	ENST00000367188	1/2	239	119	120	202	202	0	strelka-varscan-mutect	PPP1R15B,missense_variant,p.Trp21Leu,ENST00000367188,NM_032833.4;RP11-739N20.2,intron_variant,,ENST00000443515,;	A	ENST00000367188	Transcript	missense_variant	442/5227	62/2142	21/713	W/L	tGg/tTg		1		-1	PPP1R15B	HGNC	HGNC:14951	protein_coding	YES	CCDS1445.1	ENSP00000356156	Q5SWA1		UPI0000EE3EB3	NM_032833.4	tolerated_low_confidence(0.18)		1/2		Low_complexity_(Seg):seg,Pfam_domain:PF10472																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	204411350	204411350	C	A	1	0	0	0	0	1	0	0	0	12474	595	21	2		2	PPP1R15B	1	204411350	Missense_Mutation	SNP	C	C3L-00094_TP	3024572	204411350	44545072	9	3143											
USH2A	0	.	GRCh38	chr1	215786744	215786744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacatttcttcaattgatGccttccctgtggaattgtga	10	15	7	9	0	2	2	1	2	1	0	3	3	3	3	2	1	2	0	2	1	3	5	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.10313C>A	p.Ala3438Glu	p.A3438E	ENST00000307340	52/72	556	520	36	450	449	1	strelka-varscan-mutect	USH2A,missense_variant,p.Ala3438Glu,ENST00000307340,NM_206933.2;	T	ENST00000307340	Transcript	missense_variant	10700/18883	10313/15609	3438/5202	A/E	gCa/gAa		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(1)		52/72		PROSITE_profiles:PS50853,SMART_domains:SM00060																	MODERATE	1	SNV	1			1										PASS		rs1319722709	.												T	3	4	9	215786744	215786744	G	T	1	0	0	0	0	1	0	0	0	17570	1319	46	2		2	USH2A	1	215786744	Missense_Mutation	SNP	G	C3L-00094_TP	11375394	215786744	33169678	10	3144											
MARK1	0	.	GRCh38	chr1	220653137	220653137	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgcttccccatctgcTcacagtattagtactgcgac	7	12	7	15	1	2	0	1	0	1	0	3	1	3	0	3	0	5	5	3	0	3	4	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.1776T>A	p.=	p.A592A	ENST00000611084	16/18	396	349	47	258	257	1	strelka-varscan-mutect	MARK1,synonymous_variant,p.=,ENST00000611084,NM_001286124.1;MARK1,synonymous_variant,p.=,ENST00000402574,NM_001286126.1;MARK1,synonymous_variant,p.=,ENST00000366918,NM_001286128.1;MARK1,synonymous_variant,p.=,ENST00000366917,NM_018650.4;	A	ENST00000611084	Transcript	synonymous_variant	2416/5321	1776/2391	592/796	A	gcT/gcA		1		1	MARK1	HGNC	HGNC:6896	protein_coding	YES	CCDS73033.1	ENSP00000483424		A0A087X0I6	UPI0000E592B1	NM_001286124.1			16/18		hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF21																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	9	220653137	220653137	T	A	1	0	0	0	0	0	0	0	1	9237	1538	54	4		4	MARK1	1	220653137	Silent	SNP	T	C3L-00094_TP	4866393	220653137	28303285	11	3145											
CCDC185	0	.	GRCh38	chr1	223394802	223394802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatggactgccaggccaagGctgaggagctccttaggcag	9	7	14	11	0	1	1	1	1	0	0	2	3	2	3	3	5	2	3	3	5	2	1	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1327G>A	p.Ala443Thr	p.A443T	ENST00000366875	1/1	73	51	22	59	59	0	strelka-varscan-mutect	CCDC185,missense_variant,p.Ala443Thr,ENST00000366875,NM_152610.2;	A	ENST00000366875	Transcript	missense_variant	1386/2054	1327/1872	443/623	A/T	Gct/Act		1		1	CCDC185	HGNC	HGNC:26654	protein_coding	YES	CCDS1537.1	ENSP00000355840	Q8N715		UPI000006F948	NM_152610.2	deleterious(0)		1/1		hmmpanther:PTHR33663,hmmpanther:PTHR33663:SF3,Pfam_domain:PF15558																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	9	223394802	223394802	G	A	1	0	0	0	0	1	0	0	0	2501	1203	42	3		3	CCDC185	1	223394802	Missense_Mutation	SNP	G	C3L-00094_TP	2741665	223394802	25561620	12	3146											
DNAH14	0	.	GRCh38	chr1	225324242	225324242	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttcgtgaagctaaaaaaAattgtaaccttacctgattt	14	15	6	6	1	0	2	0	2	0	0	1	2	0	2	2	0	3	3	2	0	7	7	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.9237A>T	p.Lys3079Asn	p.K3079N	ENST00000430092	61/84	271	252	19	204	204	0	strelka-mutect	DNAH14,missense_variant,p.Lys3079Asn,ENST00000430092,NM_001373.1;DNAH14,missense_variant,p.Lys3079Asn,ENST00000439375,;DNAH14,missense_variant,p.Lys2426Asn,ENST00000445597,;DNAH14,missense_variant,p.Lys877Asn,ENST00000327794,;	T	ENST00000430092	Transcript	missense_variant	9452/13763	9237/13548	3079/4515	K/N	aaA/aaT		1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000414402	Q0VDD8		UPI000192C36D	NM_001373.1	deleterious(0.04)		61/84		hmmpanther:PTHR10676:SF254,hmmpanther:PTHR10676,Pfam_domain:PF12777																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	9	225324242	225324242	A	T	1	0	0	0	0	1	0	0	0	4415	11	1	4		4	DNAH14	1	225324242	Missense_Mutation	SNP	A	C3L-00094_TP	1929440	225324242	23632180	13	3147											
RYR2	0	.	GRCh38	chr1	237808904	237808904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacattgttttccagctcGtattaaccgttggcttatta	8	17	7	9	2	1	0	1	0	0	0	3	0	2	0	2	1	2	5	2	1	4	8	rs775534249		C3L-00094_TP	C3L-00094_NB	G	G																c.14302G>T	p.Val4768Leu	p.V4768L	ENST00000366574	100/105	283	249	34	239	239	0	strelka-varscan-mutect	RYR2,missense_variant,p.Val4768Leu,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Val4751Leu,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000608590,;	T	ENST00000366574	Transcript	missense_variant	14619/16562	14302/14904	4768/4967	V/L	Gta/Tta	rs775534249	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0.02)		100/105		Pfam_domain:PF00520,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs775534249	.												T	3	4	9	237808904	237808904	G	T	1	0	0	0	0	1	0	0	0	14029	1159	40	1		1	RYR2	1	237808904	Missense_Mutation	SNP	G	C3L-00094_TP	12484662	237808904	11147518	14	3148											
TRIM58	0	.	GRCh38	chr1	247864907	247864907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgagctgcaggagaggtGccagcgcccggccctgggtc	6	5	18	12	2	0	2	0	1	0	1	1	4	0	3	3	5	4	2	3	5	0	0	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.719G>A	p.Cys240Tyr	p.C240Y	ENST00000366481	3/6	300	277	23	204	204	0	strelka-varscan-mutect	TRIM58,missense_variant,p.Cys240Tyr,ENST00000366481,NM_015431.3;	A	ENST00000366481	Transcript	missense_variant	767/3225	719/1461	240/486	C/Y	tGc/tAc		1		1	TRIM58	HGNC	HGNC:24150	protein_coding	YES	CCDS1636.1	ENSP00000355437	Q8NG06		UPI000020590E	NM_015431.3	deleterious(0)		3/6		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF393																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	247864907	247864907	G	A	1	0	0	0	0	1	0	0	0	17024	1319	46	3		3	TRIM58	1	247864907	Missense_Mutation	SNP	G	C3L-00094_TP	10056003	247864907	1091515	15	3149											
OR14C36	0	.	GRCh38	chr1	248349313	248349313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaattcttctgtgacatccCctctctgctgaagctctctt	6	16	5	14	0	5	2	1	2	4	0	8	2	6	2	2	0	2	2	2	0	2	3	rs753138282		C3L-00094_TP	C3L-00094_NB	C	C																c.539C>A	p.Pro180His	p.P180H	ENST00000317861	1/1	206	154	52	185	185	0	strelka-varscan-mutect	OR14C36,missense_variant,p.Pro180His,ENST00000317861,NM_001001918.1;	A	ENST00000317861	Transcript	missense_variant	539/939	539/939	180/312	P/H	cCc/cAc	rs753138282	1		1	OR14C36	HGNC	HGNC:15026	protein_coding	YES	CCDS31112.1	ENSP00000324534	Q8NHC7		UPI0000041CB1	NM_001001918.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF180,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs753138282	.												A	3	1	9	248349313	248349313	C	A	1	0	0	0	0	1	0	0	0	11023	623	22	2		2	OR14C36	1	248349313	Missense_Mutation	SNP	C	C3L-00094_TP	484406	248349313	607109	16	3150											
OR2T6	0	.	GRCh38	chr1	248388153	248388153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcactttttctgtgaggcacCcaccatgctgaggctggcct	6	12	10	13	0	2	2	1	2	1	0	2	2	2	2	3	3	1	3	3	3	0	2			C3L-00094_TP	C3L-00094_NB	C	C																c.545C>A	p.Pro182His	p.P182H	ENST00000355728	1/1	231	169	62	177	177	0	strelka-varscan-mutect	OR2T6,missense_variant,p.Pro182His,ENST00000355728,NM_001005471.1;	A	ENST00000355728	Transcript	missense_variant	545/927	545/927	182/308	P/H	cCc/cAc	COSM5536117	1		1	OR2T6	HGNC	HGNC:15018	protein_coding	YES	CCDS31114.1	ENSP00000347965	Q8NHC8		UPI0000199147	NM_001005471.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	9	248388153	248388153	C	A	1	0	0	0	0	1	0	0	0	11106	623	22	2		2	OR2T6	1	248388153	Missense_Mutation	SNP	C	C3L-00094_TP	38840	248388153	568269	17	3151											
NT5C1B	0	.	GRCh38	chr2	18576868	18576868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatggggtcttttcccccgGtcagacagaagcggtcaatc	9	9	11	12	2	3	2	2	0	1	2	5	2	4	2	2	4	1	0	2	4	3	2			C3L-00094_TP	C3L-00094_NB	G	G																c.1229C>A	p.Thr410Asn	p.T410N	ENST00000359846	8/10	457	291	166	413	413	0	strelka-varscan-mutect	NT5C1B,missense_variant,p.Thr350Asn,ENST00000304081,NM_033253.3;NT5C1B,missense_variant,p.Thr410Asn,ENST00000359846,NM_001002006.2,NM_001199087.1,NM_001199088.1,NM_001199086.1;NT5C1B-RDH14,missense_variant,p.Thr410Asn,ENST00000532967,NM_001199104.1;NT5C1B-RDH14,missense_variant,p.Thr352Asn,ENST00000444297,NM_001199103.1;NT5C1B,missense_variant,p.Thr65Asn,ENST00000418427,;NT5C1B,3_prime_UTR_variant,,ENST00000406971,;	T	ENST00000359846	Transcript	missense_variant	1307/2475	1229/1833	410/610	T/N	aCc/aAc	COSM5136956	1		-1	NT5C1B	HGNC	HGNC:17818	protein_coding	YES	CCDS33150.1	ENSP00000352904	Q96P26	A0A140VJC7	UPI000035B1B0	NM_001002006.2,NM_001199087.1,NM_001199088.1,NM_001199086.1	deleterious(0)		8/10		Pfam_domain:PF06189,hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0											1						MODERATE	1	SNV	1		1	1										PASS		rs1316399227	.												T	3	4	9	18576868	18576868	G	T	1	0	0	0	0	1	0	0	0	10749	1261	44	2		2	NT5C1B	2	18576868	Missense_Mutation	SNP	G	C3L-00094_TP		18576868	223616661	18	3152											
KIAA1841	0	.	GRCh38	chr2	61083291	61083291	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagttgatgatttaaaGgacaaaaaagataaatttaa	22	11	7	1	0	0	4	0	3	0	1	0	5	0	5	0	1	0	1	0	1	10	6	rs755090518		C3L-00094_TP	C3L-00094_NB	G	G																c.867G>A	p.=	p.K289K	ENST00000402291	8/22	114	108	6	109	109	0	varscan-mutect	KIAA1841,synonymous_variant,p.=,ENST00000402291,NM_001129993.1;KIAA1841,synonymous_variant,p.=,ENST00000453873,;KIAA1841,synonymous_variant,p.=,ENST00000612149,;KIAA1841,synonymous_variant,p.=,ENST00000295031,NM_032506.2;KIAA1841,synonymous_variant,p.=,ENST00000356719,;KIAA1841,non_coding_transcript_exon_variant,,ENST00000482513,;KIAA1841,3_prime_UTR_variant,,ENST00000453186,;	A	ENST00000402291	Transcript	synonymous_variant	1108/4516	867/2157	289/718	K	aaG/aaA	rs755090518	1		1	KIAA1841	HGNC	HGNC:29387	protein_coding	YES	CCDS46296.1	ENSP00000385579	Q6NSI8		UPI0000197410	NM_001129993.1			8/22		Low_complexity_(Seg):seg,hmmpanther:PTHR20946:SF0,hmmpanther:PTHR20946																	LOW	1	SNV	1			1										PASS		rs755090518	.												A	2	1	9	61083291	61083291	G	A	1	0	0	0	0	0	0	0	1	8129	991	35	3		3	KIAA1841	2	61083291	Silent	SNP	G	C3L-00094_TP	42506423	61083291	181110238	19	3153											
AAK1	0	.	GRCh38	chr2	69479048	69479048	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caatcaagcagggaatcttcCccggtgagagaatctgagtc	12	8	11	10	1	3	3	1	2	2	1	5	5	4	4	2	2	1	1	2	2	4	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.2583G>T	p.=	p.G861G	ENST00000409085	20/22	159	130	29	147	147	0	strelka-varscan-mutect	AAK1,synonymous_variant,p.=,ENST00000409085,NM_014911.3;AAK1,intron_variant,,ENST00000606389,;AAK1,intron_variant,,ENST00000409068,;AAK1,intron_variant,,ENST00000623317,;AAK1,downstream_gene_variant,,ENST00000406297,;AAK1,non_coding_transcript_exon_variant,,ENST00000489327,;	A	ENST00000409085	Transcript	synonymous_variant	2960/11345	2583/2886	861/961	G	ggG/ggT		1		-1	AAK1	HGNC	HGNC:19679	protein_coding	YES	CCDS1893.2	ENSP00000386456	Q2M2I8		UPI0001881663	NM_014911.3			20/22		hmmpanther:PTHR22967:SF57,hmmpanther:PTHR22967																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	9	69479048	69479048	C	A	1	0	0	0	0	0	0	0	1	17	610	22	2		2	AAK1	2	69479048	Silent	SNP	C	C3L-00094_TP	8395757	69479048	172714481	20	3154											
DYSF	0	.	GRCh38	chr2	71549361	71549361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcttcagaggagcctgcaGgtgctgtcaagccttcgaaa	10	8	12	11	2	2	1	2	0	0	1	3	3	2	2	2	2	4	3	2	2	2	2	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1492G>T	p.Gly498Cys	p.G498C	ENST00000258104	17/55	355	296	59	264	263	1	strelka-varscan-mutect	DYSF,missense_variant,p.Gly498Cys,ENST00000258104,NM_003494.3,NM_001130976.1;DYSF,missense_variant,p.Gly529Cys,ENST00000413539,NM_001130979.1;DYSF,missense_variant,p.Gly498Cys,ENST00000429174,NM_001130978.1;DYSF,missense_variant,p.Gly530Cys,ENST00000409651,NM_001130982.1;DYSF,missense_variant,p.Gly499Cys,ENST00000409366,NM_001130983.1;DYSF,missense_variant,p.Gly499Cys,ENST00000394120,NM_001130455.1;DYSF,intron_variant,,ENST00000409582,NM_001130981.1,NM_001130977.1;DYSF,intron_variant,,ENST00000409762,NM_001130980.1;DYSF,intron_variant,,ENST00000410020,NM_001130987.1;DYSF,intron_variant,,ENST00000410041,NM_001130985.1;DYSF,intron_variant,,ENST00000409744,NM_001130984.1,NM_001130986.1;	T	ENST00000258104	Transcript	missense_variant	1769/6796	1492/6243	498/2080	G/C	Ggt/Tgt		1		1	DYSF	HGNC	HGNC:3097	protein_coding		CCDS1918.1	ENSP00000258104	O75923		UPI0000129A56	NM_003494.3,NM_001130976.1	deleterious(0.03)		17/55		Low_complexity_(Seg):seg																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	9	71549361	71549361	G	T	1	0	0	0	0	1	0	0	0	4683	1000	35	2		2	DYSF	2	71549361	Missense_Mutation	SNP	G	C3L-00094_TP	2070313	71549361	170644168	21	3155											
CTNNA2	0	.	GRCh38	chr2	80604074	80604074	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtatatgttgtttcagAggcaaaggcccattgaaaaa	13	13	10	5	0	1	2	1	1	0	1	1	2	1	2	1	2	0	5	1	2	5	6	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.2190A>T	p.Arg730Ser	p.R730S	ENST00000402739	15/18	154	126	28	133	133	0	strelka-varscan-mutect	CTNNA2,missense_variant,p.Arg730Ser,ENST00000466387,;CTNNA2,missense_variant,p.Arg730Ser,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Arg730Ser,ENST00000402739,NM_001282597.2;CTNNA2,missense_variant,p.Arg730Ser,ENST00000629316,NM_001164883.1;CTNNA2,missense_variant,p.Arg346Ser,ENST00000361291,NM_001320810.1;CTNNA2,missense_variant,p.Arg409Ser,ENST00000343114,NM_001282599.1;CTNNA2,missense_variant,p.Arg362Ser,ENST00000541047,NM_001282600.1;CTNNA2,missense_variant,p.Arg346Ser,ENST00000540488,;AC008067.2,non_coding_transcript_exon_variant,,ENST00000596783,;AC008067.2,non_coding_transcript_exon_variant,,ENST00000599412,;AC008067.2,non_coding_transcript_exon_variant,,ENST00000595478,;AC008067.2,intron_variant,,ENST00000630660,;AC008067.2,intron_variant,,ENST00000626463,;AC008067.2,intron_variant,,ENST00000596887,;AC008067.2,intron_variant,,ENST00000626199,;AC008067.2,intron_variant,,ENST00000627235,;AC008067.2,intron_variant,,ENST00000430876,;AC008067.2,intron_variant,,ENST00000609950,;AC008067.2,intron_variant,,ENST00000627307,;CTNNA2,splice_region_variant,,ENST00000467892,;	T	ENST00000402739	Transcript	missense_variant,splice_region_variant	2195/3684	2190/2862	730/953	R/S	agA/agT		1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2	deleterious(0)		15/18		Gene3D:1.20.120.230,Pfam_domain:PF01044,Prints_domain:PR00805,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Superfamily_domains:SSF47220																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	80604074	80604074	A	T	1	0	0	0	0	1	0	0	0	3822	318	11	4		4	CTNNA2	2	80604074	Missense_Mutation	SNP	A	C3L-00094_TP	9054713	80604074	161589455	22	3156											
CNGA3	0	.	GRCh38	chr2	98396785	98396785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatggggtcacccagttcGtggtcctcagcgatggcagc	7	9	14	11	2	2	1	2	1	0	0	4	2	3	1	2	4	2	2	2	4	0	1	rs374275399		C3L-00094_TP	C3L-00094_NB	G	G																c.1615G>T	p.Val539Leu	p.V539L	ENST00000393504	8/8	509	295	214	435	435	0	strelka-varscan-mutect	CNGA3,missense_variant,p.Val539Leu,ENST00000393504,NM_001298.2;CNGA3,missense_variant,p.Val539Leu,ENST00000272602,;CNGA3,missense_variant,p.Val543Leu,ENST00000409937,;CNGA3,missense_variant,p.Val521Leu,ENST00000436404,NM_001079878.1;	T	ENST00000393504	Transcript	missense_variant	2032/3841	1615/2085	539/694	V/L	Gtg/Ttg	rs374275399	1		1	CNGA3	HGNC	HGNC:2150	protein_coding	YES	CCDS2034.1	ENSP00000377140	Q16281		UPI000004717B	NM_001298.2	deleterious(0.02)		8/8		PROSITE_profiles:PS50042,hmmpanther:PTHR10217:SF390,hmmpanther:PTHR10217,Gene3D:2.60.120.10,Pfam_domain:PF00027,SMART_domains:SM00100,Superfamily_domains:SSF51206																	MODERATE	1	SNV	5			1										PASS		rs374275399	.												T	3	4	9	98396785	98396785	G	T	1	0	0	0	0	1	0	0	0	3378	1145	40	1		1	CNGA3	2	98396785	Missense_Mutation	SNP	G	C3L-00094_TP	17792711	98396785	143796744	23	3157											
LRP1B	0	.	GRCh38	chr2	140516892	140516892	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatacaatgtctcaccacAgtggaattcatcacgtccat	14	11	5	11	1	3	0	3	0	1	0	5	1	4	1	2	1	1	0	2	1	5	3	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.8146T>C	p.Cys2716Arg	p.C2716R	ENST00000389484	50/91	255	213	42	321	321	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Cys2716Arg,ENST00000389484,NM_018557.2;	G	ENST00000389484	Transcript	missense_variant	9118/16535	8146/13800	2716/4599	C/R	Tgt/Cgt		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0)		50/91		PROSITE_profiles:PS50068,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	9	140516892	140516892	A	G	1	0	0	0	0	1	0	0	0	8850	202	7	5		5	LRP1B	2	140516892	Missense_Mutation	SNP	A	C3L-00094_TP	42120107	140516892	101676637	24	3158											
ZEB2	0	.	GRCh38	chr2	144396465	144396465	+	Frame_Shift_Del	DEL	T	T	-																															tgcttttctggaatgtcttgTcacataagtcacatgcatac																								novel		C3L-00094_TP	C3L-00094_NB	T	T																c.3014delA	p.Asp1005AlafsTer70	p.D1005Afs*70	ENST00000637267	10/11	461	299	162	440	440	0	sindel-varindel-pindel	ZEB2,frameshift_variant,p.Asp1005AlafsTer70,ENST00000637267,;ZEB2,frameshift_variant,p.Asp1030AlafsTer70,ENST00000636471,;ZEB2,frameshift_variant,p.Asp1005AlafsTer70,ENST00000627532,NM_014795.3;ZEB2,frameshift_variant,p.Asp1005AlafsTer70,ENST00000636026,;ZEB2,frameshift_variant,p.Asp893AlafsTer70,ENST00000638087,;ZEB2,frameshift_variant,p.Asp893AlafsTer70,ENST00000637304,;ZEB2,frameshift_variant,p.Asp893AlafsTer70,ENST00000638007,;ZEB2,frameshift_variant,p.Asp893AlafsTer70,ENST00000637045,;ZEB2,frameshift_variant,p.Asp893AlafsTer70,ENST00000636413,;ZEB2,frameshift_variant,p.Asp746AlafsTer70,ENST00000638128,;ZEB2,frameshift_variant,p.Asp1005AlafsTer70,ENST00000409487,;ZEB2,frameshift_variant,p.Asp981AlafsTer70,ENST00000539609,NM_001171653.1;ZEB2,frameshift_variant,p.Asp1005AlafsTer70,ENST00000558170,;ZEB2,frameshift_variant,p.Asp1004AlafsTer70,ENST00000303660,;ZEB2,intron_variant,,ENST00000419938,;ZEB2,downstream_gene_variant,,ENST00000427902,;ZEB2,downstream_gene_variant,,ENST00000440875,;ZEB2,downstream_gene_variant,,ENST00000392861,;ZEB2,upstream_gene_variant,,ENST00000637873,;ZEB2,non_coding_transcript_exon_variant,,ENST00000636820,;ZEB2,non_coding_transcript_exon_variant,,ENST00000636179,;ZEB2,3_prime_UTR_variant,,ENST00000636732,;	-	ENST00000637267	Transcript	frameshift_variant	3855/9856	3014/3645	1005/1214	D/X	gAc/gc		1		-1	ZEB2	HGNC	HGNC:14881	protein_coding	YES	CCDS2186.1	ENSP00000490293			UPI00001359A2				10/11		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24391,hmmpanther:PTHR24391:SF11,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	deletion				1										PASS		.	.												-	7	5	9	144396465	144396465	T	-	1	0	1	0	1	0	0	0	0	18200	1667	58	0		0	ZEB2	2	144396465	Frame_Shift_Del	DEL	T	C3L-00094_TP	3879573	144396465	97797064	25	3159											
ARL6IP6	0	.	GRCh38	chr2	152718642	152718642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatgtcgtttgctgagagCgggtggcggtcggctctgcg	3	10	18	10	5	1	1	0	1	1	1	3	2	1	1	1	4	3	3	1	4	0	1	rs751435605		C3L-00094_TP	C3L-00094_NB	C	C																c.18C>A	p.Ser6Arg	p.S6R	ENST00000326446	1/4	37	19	18	35	35	0	strelka-mutect	ARL6IP6,missense_variant,p.Ser6Arg,ENST00000326446,NM_152522.5;PRPF40A,upstream_gene_variant,,ENST00000410080,NM_017892.3;PRPF40A,upstream_gene_variant,,ENST00000545856,;PRPF40A,upstream_gene_variant,,ENST00000493468,;PRPF40A,upstream_gene_variant,,ENST00000448428,;ARL6IP6,intron_variant,,ENST00000495469,;ARL6IP6,upstream_gene_variant,,ENST00000463690,;PRPF40A,upstream_gene_variant,,ENST00000486100,;PRPF40A,upstream_gene_variant,,ENST00000354363,;PRPF40A,upstream_gene_variant,,ENST00000489741,;PRPF40A,upstream_gene_variant,,ENST00000450303,;ARL6IP6,upstream_gene_variant,,ENST00000455875,;ARL6IP6,upstream_gene_variant,,ENST00000425034,;	A	ENST00000326446	Transcript	missense_variant	729/2805	18/681	6/226	S/R	agC/agA	rs751435605	1		1	ARL6IP6	HGNC	HGNC:24048	protein_coding	YES	CCDS2197.1	ENSP00000315357	Q8N6S5		UPI000006EA01	NM_152522.5	deleterious_low_confidence(0.04)		1/4		hmmpanther:PTHR28640,hmmpanther:PTHR28640:SF1																	MODERATE	1	SNV	1			1										PASS		rs751435605	.												A	3	1	9	152718642	152718642	C	A	1	0	0	0	0	1	0	0	0	1085	767	27	1		1	ARL6IP6	2	152718642	Missense_Mutation	SNP	C	C3L-00094_TP	8322177	152718642	89474887	26	3160											
GCA	0	.	GRCh38	chr2	162359049	162359049	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatctcttttttaggttatAggttgagtcctcaaacatta	10	19	6	6	0	2	1	1	1	1	0	4	1	3	1	1	2	1	2	1	2	6	8	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.460A>T	p.Arg154Trp	p.R154W	ENST00000437150	6/8	138	116	22	125	125	0	strelka-varscan-mutect	GCA,missense_variant,p.Arg154Trp,ENST00000437150,NM_012198.3;GCA,missense_variant,p.Arg135Trp,ENST00000233612,;GCA,missense_variant,p.Arg67Trp,ENST00000414723,;GCA,intron_variant,,ENST00000429691,;GCA,downstream_gene_variant,,ENST00000446271,;GCA,downstream_gene_variant,,ENST00000453113,;GCA,downstream_gene_variant,,ENST00000473240,;GCA,non_coding_transcript_exon_variant,,ENST00000487445,;GCA,downstream_gene_variant,,ENST00000481161,;GCA,downstream_gene_variant,,ENST00000479199,;	T	ENST00000437150	Transcript	missense_variant	621/1992	460/654	154/217	R/W	Agg/Tgg		1		1	GCA	HGNC	HGNC:15990	protein_coding	YES	CCDS2218.1	ENSP00000394842	P28676		UPI000012BA7D	NM_012198.3	deleterious(0)		6/8		PROSITE_profiles:PS50222,hmmpanther:PTHR10183:SF139,hmmpanther:PTHR10183,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	162359049	162359049	A	T	1	0	0	0	0	1	0	0	0	6153	434	15	4		4	GCA	2	162359049	Missense_Mutation	SNP	A	C3L-00094_TP	9640407	162359049	79834480	27	3161											
PLCL1	0	.	GRCh38	chr2	198085539	198085539	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgaattttcagactccGggtccaatgatggaccttca	11	11	9	10	1	2	3	2	2	0	1	4	4	4	4	3	2	0	1	3	2	3	3	rs558973603		C3L-00094_TP	C3L-00094_NB	G	G																c.2022G>T	p.=	p.P674P	ENST00000428675	2/6	252	167	85	205	205	0	strelka-varscan-mutect	PLCL1,synonymous_variant,p.=,ENST00000437704,;PLCL1,synonymous_variant,p.=,ENST00000428675,NM_006226.3;PLCL1,synonymous_variant,p.=,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	T	ENST00000428675	Transcript	synonymous_variant	2420/5125	2022/3288	674/1095	P	ccG/ccT	rs558973603,COSM1530062,COSM1530063	1		1	PLCL1	HGNC	HGNC:9063	protein_coding	YES	CCDS2326.2	ENSP00000402861	Q15111		UPI000165BCF5	NM_006226.3			2/6		PROSITE_profiles:PS50008,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF102,Pfam_domain:PF00387,Gene3D:3.20.20.190,SMART_domains:SM00149,Superfamily_domains:SSF51695,Prints_domain:PR00390											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs558973603	.												T	2	4	9	198085539	198085539	G	T	1	0	0	0	0	0	0	0	1	12133	1103	39	1		1	PLCL1	2	198085539	Silent	SNP	G	C3L-00094_TP	35726490	198085539	44107990	28	3162											
MPP4	0	.	GRCh38	chr2	201675245	201675245	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgaggctggtacggcTgagaccaccagaattcccgt	9	8	14	10	2	0	3	0	2	0	2	1	4	1	3	3	4	1	3	3	4	2	2	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.956A>T	p.Gln319Leu	p.Q319L	ENST00000409474	11/22	240	166	74	152	152	0	strelka-varscan-mutect	MPP4,missense_variant,p.Gln319Leu,ENST00000409474,NM_033066.2;MPP4,missense_variant,p.Gln319Leu,ENST00000359962,;MPP4,missense_variant,p.Gln319Leu,ENST00000620095,;MPP4,missense_variant,p.Gln306Leu,ENST00000315506,;MPP4,missense_variant,p.Gln319Leu,ENST00000428900,;MPP4,missense_variant,p.Gln275Leu,ENST00000396886,;MPP4,missense_variant,p.Gln292Leu,ENST00000409143,;MPP4,missense_variant,p.Gln319Leu,ENST00000447335,;MPP4,missense_variant,p.Gln332Leu,ENST00000409818,;MPP4,intron_variant,,ENST00000486212,;MPP4,downstream_gene_variant,,ENST00000483841,;	A	ENST00000409474	Transcript	missense_variant	1164/2462	956/1914	319/637	Q/L	cAg/cTg		1		-1	MPP4	HGNC	HGNC:13680	protein_coding	YES	CCDS46491.1	ENSP00000387278	Q96JB8		UPI000050A341	NM_033066.2	deleterious(0.04)		11/22		hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF34,Gene3D:2.30.30.40,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	201675245	201675245	T	A	1	0	0	0	0	1	0	0	0	9702	1580	55	4		4	MPP4	2	201675245	Missense_Mutation	SNP	T	C3L-00094_TP	3589706	201675245	40518284	29	3163											
KIAA2012	0	.	GRCh38	chr2	202102967	202102967	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccaaaggctttgaaattaCctcctatctcagaagaacca	15	9	5	12	0	1	3	1	1	1	2	3	3	2	3	4	1	2	1	4	1	6	3	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.1177C>G	p.Pro393Ala	p.P393A	ENST00000498697	8/24	138	101	37	95	95	0	strelka-varscan-mutect	KIAA2012,missense_variant,p.Pro393Ala,ENST00000498697,;KIAA2012,missense_variant,p.Pro393Ala,ENST00000541917,NM_001277372.1;KIAA2012,missense_variant,p.Pro449Ala,ENST00000459709,;KIAA2012,non_coding_transcript_exon_variant,,ENST00000409515,;	G	ENST00000498697	Transcript	missense_variant	1177/3772	1177/3546	393/1181	P/A	Cct/Gct		1		1	KIAA2012	HGNC	HGNC:51250	protein_coding	YES		ENSP00000419834		H7C5G6	UPI0005D0279F				8/24		hmmpanther:PTHR21937,hmmpanther:PTHR21937:SF3,Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	9	202102967	202102967	C	G	1	0	0	0	0	1	0	0	0	8131	507	18	4		4	KIAA2012	2	202102967	Missense_Mutation	SNP	C	C3L-00094_TP	427722	202102967	40090562	30	3164											
CHRND	0	.	GRCh38	chr2	232534037	232534037	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctccctgggatacatctCcaaggccgaggagtacttcc	9	8	10	14	1	1	0	0	0	1	0	4	3	3	2	4	3	3	2	4	3	3	3	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.1154C>A	p.Ser385Tyr	p.S385Y	ENST00000258385	10/12	533	432	101	391	391	0	strelka-varscan-mutect	CHRND,missense_variant,p.Ser370Tyr,ENST00000543200,NM_001256657.1;CHRND,missense_variant,p.Ser385Tyr,ENST00000258385,NM_000751.2;CHRND,3_prime_UTR_variant,,ENST00000441621,;CHRND,3_prime_UTR_variant,,ENST00000446616,;CHRND,downstream_gene_variant,,ENST00000412233,;	A	ENST00000258385	Transcript	missense_variant	1186/2112	1154/1554	385/517	S/Y	tCc/tAc		1		1	CHRND	HGNC	HGNC:1965	protein_coding	YES	CCDS2494.1	ENSP00000258385	Q07001		UPI000012525E	NM_000751.2	tolerated(0.43)		10/12		Pfam_domain:PF02932,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		rs1397329609	.												A	3	1	9	232534037	232534037	C	A	1	0	0	0	0	1	0	0	0	3154	855	30	2		2	CHRND	2	232534037	Missense_Mutation	SNP	C	C3L-00094_TP	30431070	232534037	9659492	31	3165											
CHL1	0	.	GRCh38	chr3	405512	405512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgacagtgatgaaaagcCtctcaaaggaagccttcggt	13	9	11	8	1	1	3	1	3	1	0	3	4	1	4	2	2	2	0	2	2	5	2	rs138591815		C3L-00094_TP	C3L-00094_NB	C	C																c.3476C>A	p.Pro1159His	p.P1159H	ENST00000256509	28/28	108	85	23	105	105	0	strelka-varscan-mutect	CHL1,missense_variant,p.Pro1159His,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Pro1106His,ENST00000620033,NM_001253388.1;CHL1,missense_variant,p.Pro1143His,ENST00000397491,NM_001253387.1;CHL1,missense_variant,p.Pro293His,ENST00000445697,;	A	ENST00000256509	Transcript	missense_variant	4118/8023	3476/3675	1159/1224	P/H	cCt/cAt	rs138591815	1		1	CHL1	HGNC	HGNC:1939	protein_coding	YES	CCDS2556.1	ENSP00000256509	O00533		UPI000013CF0F	NM_006614.3	deleterious(0)		28/28		Pfam_domain:PF13882,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF653																	MODERATE	1	SNV	1			1										PASS		rs138591815	.												A	3	1	9	405512	405512	C	A	1	0	0	0	0	1	0	0	0	3108	681	24	2		2	CHL1	3	405512	Missense_Mutation	SNP	C	C3L-00094_TP		405512	197890047	32	3166											
KCNH8	0	.	GRCh38	chr3	19148744	19148744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggttatgaaaggattactgGcgccgcaaaacaccttcctg	11	9	10	11	3	0	1	0	1	0	0	1	2	1	2	3	3	2	2	3	3	5	3	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.25G>T	p.Ala9Ser	p.A9S	ENST00000328405	1/16	230	216	14	225	225	0	strelka-varscan-mutect	KCNH8,missense_variant,p.Ala9Ser,ENST00000328405,NM_144633.2;KCNH8,missense_variant,p.Ala9Ser,ENST00000452398,;	T	ENST00000328405	Transcript	missense_variant	291/5137	25/3324	9/1107	A/S	Gcg/Tcg		1		1	KCNH8	HGNC	HGNC:18864	protein_coding	YES	CCDS2632.1	ENSP00000328813	Q96L42		UPI0000167D12	NM_144633.2	deleterious(0)		1/16		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	19148744	19148744	G	T	1	0	0	0	0	1	0	0	0	7954	1203	42	2		2	KCNH8	3	19148744	Missense_Mutation	SNP	G	C3L-00094_TP	18743232	19148744	179146815	33	3167											
RBMS3	0	.	GRCh38	chr3	29739732	29739732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttagcaacaagagcaaGacccaacaaacctatacatc	17	6	4	14	0	0	2	0	0	0	2	2	2	1	2	3	0	6	2	3	0	8	3	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.412G>T	p.Asp138Tyr	p.D138Y	ENST00000383767	5/15	89	70	19	94	94	0	strelka-varscan-mutect	RBMS3,missense_variant,p.Asp137Tyr,ENST00000434693,;RBMS3,missense_variant,p.Asp137Tyr,ENST00000383766,NM_001003792.2;RBMS3,missense_variant,p.Asp138Tyr,ENST00000383767,NM_001003793.2;RBMS3,missense_variant,p.Asp204Tyr,ENST00000636680,;RBMS3,missense_variant,p.Asp138Tyr,ENST00000273139,NM_014483.3;RBMS3,missense_variant,p.Asp138Tyr,ENST00000452462,NM_001177711.1;RBMS3,missense_variant,p.Asp138Tyr,ENST00000456853,NM_001177712.1;RBMS3,missense_variant,p.Asp138Tyr,ENST00000445033,;RBMS3,non_coding_transcript_exon_variant,,ENST00000478716,;RP11-9J18.1,3_prime_UTR_variant,,ENST00000635992,;RBMS3,3_prime_UTR_variant,,ENST00000637842,;RBMS3,non_coding_transcript_exon_variant,,ENST00000497205,;	T	ENST00000383767	Transcript	missense_variant	748/1864	412/1314	138/437	D/Y	Gac/Tac		1		1	RBMS3	HGNC	HGNC:13427	protein_coding	YES	CCDS33724.1	ENSP00000373277	Q6XE24		UPI000023FE75	NM_001003793.2	deleterious(0)		5/15		hmmpanther:PTHR24012:SF473,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	29739732	29739732	G	T	1	0	0	0	0	1	0	0	0	13316	942	33	2		2	RBMS3	3	29739732	Missense_Mutation	SNP	G	C3L-00094_TP	10590988	29739732	168555827	34	3168											
WDR48	0	.	GRCh38	chr3	39066772	39066772	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaggccttagcatatgcCaaggataaagaactagtagc	16	8	10	7	0	0	1	0	0	0	1	0	2	0	2	2	2	4	3	2	2	10	6	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.378C>G	p.=	p.A126A	ENST00000302313	5/19	177	149	28	214	214	0	strelka-varscan-mutect	WDR48,synonymous_variant,p.=,ENST00000302313,NM_020839.3,NM_001303403.1,NM_001303402.1;WDR48,synonymous_variant,p.=,ENST00000441361,;WDR48,missense_variant,p.Gln133Glu,ENST00000423296,;WDR48,3_prime_UTR_variant,,ENST00000413099,;WDR48,3_prime_UTR_variant,,ENST00000433841,;WDR48,intron_variant,,ENST00000420940,;	G	ENST00000302313	Transcript	synonymous_variant	406/3707	378/2034	126/677	A	gcC/gcG		1		1	WDR48	HGNC	HGNC:30914	protein_coding	YES	CCDS33738.1	ENSP00000307491	Q8TAF3	A0A024R2L1	UPI000006FF8C	NM_020839.3,NM_001303403.1,NM_001303402.1			5/19		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19862,hmmpanther:PTHR19862:SF14,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	9	39066772	39066772	C	G	1	0	0	0	0	0	0	0	1	17861	581	21	4		4	WDR48	3	39066772	Silent	SNP	C	C3L-00094_TP	9327040	39066772	159228787	35	3169											
ITIH4	0	.	GRCh38	chr3	52818157	52818157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcaggatggcagagggagCctgtatgggggctgggacag	8	6	21	6	0	0	1	0	0	0	1	0	4	0	4	1	7	1	4	1	7	1	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.2191G>T	p.Ala731Ser	p.A731S	ENST00000266041	20/24	102	80	22	93	93	0	strelka-varscan-mutect	ITIH4,missense_variant,p.Ala731Ser,ENST00000266041,NM_002218.4;ITIH4,missense_variant,p.Ala736Ser,ENST00000485816,;ITIH4,missense_variant,p.Ala701Ser,ENST00000406595,NM_001166449.1;ITIH4,intron_variant,,ENST00000441637,;ITIH4,downstream_gene_variant,,ENST00000467462,;ITIH4,downstream_gene_variant,,ENST00000471505,;ITIH4,downstream_gene_variant,,ENST00000484632,;RP5-966M1.6,3_prime_UTR_variant,,ENST00000468472,;ITIH4,non_coding_transcript_exon_variant,,ENST00000491663,;ITIH4,non_coding_transcript_exon_variant,,ENST00000461966,;ITIH4,non_coding_transcript_exon_variant,,ENST00000481977,;ITIH4,downstream_gene_variant,,ENST00000537897,;ITIH4,upstream_gene_variant,,ENST00000464000,;ITIH4,downstream_gene_variant,,ENST00000485894,;	A	ENST00000266041	Transcript	missense_variant	2288/3336	2191/2793	731/930	A/S	Gct/Tct		1		-1	ITIH4	HGNC	HGNC:6169	protein_coding	YES	CCDS2865.1	ENSP00000266041	Q14624		UPI000013D6C3	NM_002218.4	tolerated(0.4)		20/24		hmmpanther:PTHR10338:SF119,hmmpanther:PTHR10338																	MODERATE	1	SNV	1			1										PASS		rs954413947	.												A	3	1	9	52818157	52818157	C	A	1	0	0	0	0	1	0	0	0	7812	739	26	2		2	ITIH4	3	52818157	Missense_Mutation	SNP	C	C3L-00094_TP	13751385	52818157	145477402	36	3170											
AC026348.1	0	.	GRCh38	chr3	113373556	113373556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaaccagaatcatagccacCctagaaaagagataagtaac	21	5	6	9	0	1	3	1	0	0	3	1	4	1	3	3	0	3	1	3	0	9	4	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.2299G>A	p.Gly767Ser	p.G767S	ENST00000393845	17/34	46	36	10	53	53	0	strelka-varscan-mutect	AC026348.1,missense_variant,p.Gly767Ser,ENST00000393845,NM_001164496.1;CFAP44,missense_variant,p.Gly767Ser,ENST00000295868,NM_018338.3;CFAP44,intron_variant,,ENST00000488854,;	T	ENST00000393845	Transcript	missense_variant,splice_region_variant	2299/5565	2299/5565	767/1854	G/S	Ggt/Agt		1		-1	AC026348.1	Clone_based_ensembl_gene		protein_coding	YES	CCDS54624.1	ENSP00000377428	Q96MT7		UPI0000367198	NM_001164496.1	deleterious(0.01)		17/34		hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	9	113373556	113373556	C	T	1	0	0	0	0	1	0	0	0	128	637	22	3		3	AC026348.1	3	113373556	Missense_Mutation	SNP	C	C3L-00094_TP	60555399	113373556	84922003	37	3171											
TRPC1	0	.	GRCh38	chr3	142792854	142792854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgctgatcggaaggattggGatgcattccatcctacactg	9	12	11	9	1	0	1	0	1	0	0	3	4	2	4	2	3	3	2	2	3	2	4	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1468G>A	p.Asp490Asn	p.D490N	ENST00000476941	9/13	97	82	15	136	136	0	strelka-varscan-mutect	TRPC1,missense_variant,p.Asp456Asn,ENST00000273482,;TRPC1,missense_variant,p.Asp456Asn,ENST00000612385,NM_003304.4;TRPC1,missense_variant,p.Asp490Asn,ENST00000476941,NM_001251845.1;	A	ENST00000476941	Transcript	missense_variant	1954/3061	1468/2382	490/793	D/N	Gat/Aat		1		1	TRPC1	HGNC	HGNC:12333	protein_coding	YES	CCDS58856.1	ENSP00000419313	P48995		UPI00001374A4	NM_001251845.1	tolerated(0.15)		9/13		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF56,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	142792854	142792854	G	A	1	0	0	0	0	1	0	0	0	17083	1174	41	3		3	TRPC1	3	142792854	Missense_Mutation	SNP	G	C3L-00094_TP	29419298	142792854	55502705	38	3172											
NCEH1	0	.	GRCh38	chr3	172710857	172710857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacctcaccacttgctgtGcaccccggaaagtggcgtcc	7	8	10	16	2	1	0	1	0	0	0	2	1	2	1	5	2	3	3	5	2	1	1	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.224C>T	p.Ala75Val	p.A75V	ENST00000538775	1/5	122	94	28	134	134	0	strelka-varscan-mutect	NCEH1,missense_variant,p.Ala75Val,ENST00000475381,NM_020792.4;NCEH1,missense_variant,p.Ala75Val,ENST00000538775,NM_001146276.1;NCEH1,missense_variant,p.Ala66Val,ENST00000424772,;NCEH1,5_prime_UTR_variant,,ENST00000543711,NM_001146277.1,NM_001146278.1;NCEH1,missense_variant,p.Ala75Val,ENST00000421723,;	A	ENST00000538775	Transcript	missense_variant	362/4315	224/1347	75/448	A/V	gCa/gTa		1		-1	NCEH1	HGNC	HGNC:29260	protein_coding	YES	CCDS54682.1	ENSP00000442464		A0A0A0MTJ9	UPI000199A4B7	NM_001146276.1	tolerated(0.9)		1/5		PIRSF_domain:PIRSF037251																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	9	172710857	172710857	G	A	1	0	0	0	0	1	0	0	0	10233	1319	46	3		3	NCEH1	3	172710857	Missense_Mutation	SNP	G	C3L-00094_TP	29918003	172710857	25584702	39	3173											
PIGX	0	.	GRCh38	chr3	196727922	196727922	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttattttctttttgaacaGgcagtgatggtttcagaaaa	12	17	8	4	0	2	3	1	2	1	1	2	3	2	3	0	2	1	2	0	2	4	7	rs763608495		C3L-00094_TP	C3L-00094_NB	G	G																c.319-1G>T		p.X107_splice	ENST00000296333		64	53	11	78	78	0	strelka-varscan-mutect	PIGX,splice_acceptor_variant,,ENST00000392391,NM_017861.3;PIGX,splice_acceptor_variant,,ENST00000296333,NM_001166304.1;PIGX,splice_acceptor_variant,,ENST00000451319,;PIGX,splice_acceptor_variant,,ENST00000426755,;PIGX,splice_acceptor_variant,,ENST00000421265,;PIGX,splice_acceptor_variant,,ENST00000415832,;PIGX,splice_acceptor_variant,,ENST00000453218,;PIGX,splice_acceptor_variant,,ENST00000457284,;	T	ENST00000296333	Transcript	splice_acceptor_variant	-/953	319/831	107/276			rs763608495	1		1	PIGX	HGNC	HGNC:26046	protein_coding	YES	CCDS54701.1	ENSP00000296333		H0Y2P9	UPI00015E0960	NM_001166304.1				3/6																		HIGH	1	SNV	2			1										PASS		rs763608495	.												T	5	4	9	196727922	196727922	G	T	1	0	0	0	0	0	0	1	0	11997	1014	35	2		2	PIGX	3	196727922	Splice_Site	SNP	G	C3L-00094_TP	24017065	196727922	1567637	40	3174											
JAKMIP1	0	.	GRCh38	chr4	6085604	6085604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaaggccagaatcacaCggtctttccctttgatctca	9	12	6	14	1	4	2	2	1	3	1	7	2	5	2	3	2	0	0	3	2	2	2	rs748298581		C3L-00094_TP	C3L-00094_NB	C	C																c.650G>C	p.Arg217Pro	p.R217P	ENST00000409021	4/21	219	149	70	172	172	0	strelka-varscan-mutect	JAKMIP1,missense_variant,p.Arg217Pro,ENST00000409021,NM_001099433.1;JAKMIP1,missense_variant,p.Arg217Pro,ENST00000282924,NM_144720.3;JAKMIP1,missense_variant,p.Arg52Pro,ENST00000409371,;JAKMIP1,missense_variant,p.Arg217Pro,ENST00000409831,NM_001306133.1;JAKMIP1,missense_variant,p.Arg52Pro,ENST00000410077,NM_001306134.1;JAKMIP1,non_coding_transcript_exon_variant,,ENST00000457227,;JAKMIP1,missense_variant,p.Arg217Pro,ENST00000473053,;	G	ENST00000409021	Transcript	missense_variant	1100/2975	650/2496	217/831	R/P	cGt/cCt	rs748298581	1		-1	JAKMIP1	HGNC	HGNC:26460	protein_coding	YES	CCDS47005.1	ENSP00000386711	Q96N16		UPI00015734C1	NM_001099433.1	deleterious(0)		4/21		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF6																	MODERATE	1	SNV	1			1										PASS		rs748298581	.												G	3	3	9	6085604	6085604	C	G	1	0	0	0	0	1	0	0	0	7853	536	19	4		4	JAKMIP1	4	6085604	Missense_Mutation	SNP	C	C3L-00094_TP		6085604	184128951	41	3175											
AFAP1	0	.	GRCh38	chr4	7768939	7768939	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgttcaccggcacggggcCctcggtgtcactggtgtcac	4	9	14	14	3	3	0	3	0	0	0	4	0	3	0	2	5	0	3	2	5	0	1	rs757167105		C3L-00094_TP	C3L-00094_NB	C	C																c.2323G>T	p.Gly775Cys	p.G775C	ENST00000420658	17/18	121	107	14	114	114	0	strelka-varscan-mutect	AFAP1,missense_variant,p.Gly775Cys,ENST00000420658,NM_001134647.1;AFAP1,missense_variant,p.Gly691Cys,ENST00000358461,NM_198595.2;AFAP1,missense_variant,p.Gly691Cys,ENST00000360265,;AFAP1,missense_variant,p.Gly775Cys,ENST00000382543,;AFAP1-AS1,intron_variant,,ENST00000608442,;AFAP1,non_coding_transcript_exon_variant,,ENST00000513842,;AFAP1,non_coding_transcript_exon_variant,,ENST00000505447,;	A	ENST00000420658	Transcript	missense_variant	2596/7768	2323/2445	775/814	G/C	Ggc/Tgc	rs757167105	1		-1	AFAP1	HGNC	HGNC:24017	protein_coding	YES	CCDS47010.1	ENSP00000410689	Q8N556		UPI000048041E	NM_001134647.1	tolerated(0.14)		17/18		hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF8																	MODERATE		SNV	2			1										PASS		rs757167105	.												A	3	1	9	7768939	7768939	C	A	1	0	0	0	0	1	0	0	0	430	623	22	2		2	AFAP1	4	7768939	Missense_Mutation	SNP	C	C3L-00094_TP	1683335	7768939	182445616	42	3176											
DHX15	0	.	GRCh38	chr4	24570761	24570761	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctctgagccacactcatTgcagccactctcctgggttg	7	11	8	15	0	3	1	1	1	2	0	5	1	3	1	3	1	3	2	3	1	0	2	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.594A>C	p.=	p.A198A	ENST00000336812	3/14	268	247	21	259	259	0	strelka-varscan-mutect	DHX15,synonymous_variant,p.=,ENST00000336812,NM_001358.2;	G	ENST00000336812	Transcript	synonymous_variant	751/2994	594/2388	198/795	A	gcA/gcC		1		-1	DHX15	HGNC	HGNC:2738	protein_coding	YES	CCDS33966.1	ENSP00000336741	O43143		UPI000012907A	NM_001358.2			3/14		PROSITE_profiles:PS51192,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF95,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	9	24570761	24570761	T	G	1	0	0	0	0	0	0	0	1	4305	1799	63	5		5	DHX15	4	24570761	Silent	SNP	T	C3L-00094_TP	16801822	24570761	165643794	43	3177											
GUF1	0	.	GRCh38	chr4	44686570	44686570	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgactccacctttgaccaGtatagaggtgtgatagccaa	11	12	9	9	0	0	4	0	3	0	1	1	4	1	4	4	1	1	1	4	1	4	5	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.795G>A	p.=	p.Q265Q	ENST00000281543	8/17	273	256	17	355	355	0	strelka-varscan-mutect	GUF1,synonymous_variant,p.=,ENST00000281543,NM_021927.2;GNPDA2,intron_variant,,ENST00000608855,;GNPDA2,intron_variant,,ENST00000609092,;GUF1,non_coding_transcript_exon_variant,,ENST00000506793,;GUF1,3_prime_UTR_variant,,ENST00000513775,;	A	ENST00000281543	Transcript	synonymous_variant	989/4449	795/2010	265/669	Q	caG/caA		1		1	GUF1	HGNC	HGNC:25799	protein_coding	YES	CCDS3468.1	ENSP00000281543	Q8N442	A0A024R9T3	UPI000006FFEC	NM_021927.2			8/17		Gene3D:2.40.30.10,HAMAP:MF_00071,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF97,Superfamily_domains:SSF50447,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01393																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	9	44686570	44686570	G	A	1	0	0	0	0	0	0	0	1	6781	1020	36	3		3	GUF1	4	44686570	Silent	SNP	G	C3L-00094_TP	20115809	44686570	145527985	44	3178											
ODAM	0	.	GRCh38	chr4	70202839	70202839	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagttttcatgccctcaacTtcaccaaaacccagcacaac	13	8	5	15	0	3	0	3	0	0	0	3	1	3	1	3	1	5	2	3	1	4	3	rs190328480		C3L-00094_TP	C3L-00094_NB	T	T																c.732T>A	p.=	p.T244T	ENST00000396094	9/11	149	141	8	230	230	0	strelka-varscan-mutect	ODAM,synonymous_variant,p.=,ENST00000396094,NM_017855.3;ODAM,synonymous_variant,p.=,ENST00000510709,;ODAM,synonymous_variant,p.=,ENST00000514097,;ODAM,3_prime_UTR_variant,,ENST00000510847,;ODAM,downstream_gene_variant,,ENST00000506248,;	A	ENST00000396094	Transcript	synonymous_variant	780/1319	732/840	244/279	T	acT/acA	rs190328480	1		1	ODAM	HGNC	HGNC:26043	protein_coding	YES	CCDS3536.2	ENSP00000379401	A1E959		UPI0000413A02	NM_017855.3			9/11		hmmpanther:PTHR16237:SF3,hmmpanther:PTHR16237,Pfam_domain:PF15424																	LOW	1	SNV	5			1										PASS		rs190328480	.												A	2	1	9	70202839	70202839	T	A	1	0	0	0	0	0	0	0	1	10902	1596	56	4		4	ODAM	4	70202839	Silent	SNP	T	C3L-00094_TP	25516269	70202839	120011716	45	3179											
ENAM	0	.	GRCh38	chr4	70644336	70644336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccaaaaggaaattatGccctttcctgaagccagttc	11	10	9	11	0	0	1	0	1	0	0	2	2	1	2	4	2	2	1	4	2	5	3	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.2910G>T	p.Met970Ile	p.M970I	ENST00000396073	9/9	588	528	60	660	658	2	strelka-varscan-mutect	ENAM,missense_variant,p.Met970Ile,ENST00000396073,NM_031889.2;ENAM,intron_variant,,ENST00000472903,;ENAM,downstream_gene_variant,,ENST00000472597,;	T	ENST00000396073	Transcript	missense_variant	3191/5679	2910/3429	970/1142	M/I	atG/atT		1		1	ENAM	HGNC	HGNC:3344	protein_coding	YES	CCDS3544.2	ENSP00000379383	Q9NRM1		UPI000013CE60	NM_031889.2	tolerated(0.14)		9/9		hmmpanther:PTHR16784:SF2,hmmpanther:PTHR16784,Pfam_domain:PF15362																	MODERATE	1	SNV	1			1										PASS		rs1156773891	.												T	3	4	9	70644336	70644336	G	T	1	0	0	0	0	1	0	0	0	4954	1319	46	2		2	ENAM	4	70644336	Missense_Mutation	SNP	G	C3L-00094_TP	441497	70644336	119570219	46	3180											
RP11-766F14.2	0	.	GRCh38	chr4	99650400	99650400	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctccggagaaggcccttGtgggaacttgccagcgacac	9	7	12	13	2	1	1	0	0	1	1	2	4	1	2	3	3	3	0	3	3	2	2	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.4249C>T	p.Gln1417Ter	p.Q1417*	ENST00000511828	1/2	208	195	13	248	248	0	strelka-varscan-mutect	RP11-766F14.2,stop_gained,p.Gln1417Ter,ENST00000511828,;	A	ENST00000511828	Transcript	stop_gained	4249/10086	4249/5382	1417/1793	Q/*	Caa/Taa		1		-1	RP11-766F14.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000427555		D6RIA3	UPI0001D3B6FE				1/2																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	9	99650400	99650400	G	A	1	0	0	0	0	0	1	0	0	13762	1386	48	3		3	RP11-766F14.2	4	99650400	Nonsense_Mutation	SNP	G	C3L-00094_TP	29006064	99650400	90564155	47	3181											
BBS7	0	.	GRCh38	chr4	121861657	121861657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagccttgcaatcttcggcCcgggtaaagtcttgaacact	9	10	9	13	2	2	1	0	1	2	0	3	1	2	1	3	2	3	2	3	2	4	4	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.188G>T	p.Gly63Val	p.G63V	ENST00000264499	4/19	253	223	30	295	294	1	strelka-varscan-mutect	BBS7,missense_variant,p.Gly63Val,ENST00000264499,NM_176824.2;BBS7,missense_variant,p.Gly63Val,ENST00000506636,NM_018190.3;BBS7,non_coding_transcript_exon_variant,,ENST00000505692,;BBS7,non_coding_transcript_exon_variant,,ENST00000502444,;BBS7,upstream_gene_variant,,ENST00000508536,;	A	ENST00000264499	Transcript	missense_variant	372/3752	188/2148	63/715	G/V	gGg/gTg		1		-1	BBS7	HGNC	HGNC:18758	protein_coding	YES	CCDS3724.1	ENSP00000264499	Q8IWZ6		UPI00001684D7	NM_176824.2	deleterious(0)		4/19		hmmpanther:PTHR16074,hmmpanther:PTHR16074:SF4,PIRSF_domain:PIRSF011091,Gene3D:2.130.10.10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	121861657	121861657	C	A	1	0	0	0	0	1	0	0	0	1488	623	22	2		2	BBS7	4	121861657	Missense_Mutation	SNP	C	C3L-00094_TP	22211257	121861657	68352898	48	3182											
ADAD1	0	.	GRCh38	chr4	122380188	122380188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aactacacccacaggatggtCctcagaaagttacggcctgt	12	8	9	12	1	1	1	1	0	0	1	2	2	2	2	3	3	3	1	3	3	4	2	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.119C>A	p.Ser40Tyr	p.S40Y	ENST00000296513	3/13	172	128	44	193	193	0	strelka-varscan-mutect	ADAD1,missense_variant,p.Ser40Tyr,ENST00000296513,NM_139243.3;ADAD1,missense_variant,p.Ser22Tyr,ENST00000388725,NM_001159295.1;ADAD1,missense_variant,p.Ser40Tyr,ENST00000388724,NM_001159285.1;ADAD1,missense_variant,p.Ser40Tyr,ENST00000439307,;ADAD1,missense_variant,p.Ser40Tyr,ENST00000446706,;ADAD1,upstream_gene_variant,,ENST00000492454,;ADAD1,downstream_gene_variant,,ENST00000464160,;	A	ENST00000296513	Transcript	missense_variant	304/1961	119/1731	40/576	S/Y	tCc/tAc		1		1	ADAD1	HGNC	HGNC:30713	protein_coding	YES	CCDS34058.1	ENSP00000296513	Q96M93		UPI000006DF76	NM_139243.3	tolerated(0.07)		3/13																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	9	122380188	122380188	C	A	1	0	0	0	0	1	0	0	0	275	855	30	2		2	ADAD1	4	122380188	Missense_Mutation	SNP	C	C3L-00094_TP	518531	122380188	67834367	49	3183											
ADAD1	0	.	GRCh38	chr4	122381078	122381078	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaaatacctaaggaatttAtaatgaaatacaaacgtgga	22	9	6	4	1	0	1	0	1	0	0	0	3	0	3	1	2	3	0	1	2	11	6	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.259A>T	p.Ile87Leu	p.I87L	ENST00000296513	4/13	175	163	12	221	221	0	strelka-varscan-mutect	ADAD1,missense_variant,p.Ile87Leu,ENST00000296513,NM_139243.3;ADAD1,missense_variant,p.Ile69Leu,ENST00000388725,NM_001159295.1;ADAD1,missense_variant,p.Ile87Leu,ENST00000388724,NM_001159285.1;ADAD1,missense_variant,p.Ile87Leu,ENST00000439307,;ADAD1,missense_variant,p.Ile87Leu,ENST00000446706,;ADAD1,non_coding_transcript_exon_variant,,ENST00000492454,;ADAD1,downstream_gene_variant,,ENST00000464160,;	T	ENST00000296513	Transcript	missense_variant	444/1961	259/1731	87/576	I/L	Ata/Tta		1		1	ADAD1	HGNC	HGNC:30713	protein_coding	YES	CCDS34058.1	ENSP00000296513	Q96M93		UPI000006DF76	NM_139243.3	tolerated(0.08)		4/13		hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF103																	MODERATE	1	SNV	2			1										PASS		rs1289716320	.												T	3	4	9	122381078	122381078	A	T	1	0	0	0	0	1	0	0	0	275	449	16	4		4	ADAD1	4	122381078	Missense_Mutation	SNP	A	C3L-00094_TP	890	122381078	67833477	50	3184											
PABPC4L	0	.	GRCh38	chr4	134200056	134200056	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcctgcattaccttaaCtctgctaattgatccaaatg	10	15	4	12	0	2	1	0	1	2	0	4	1	4	1	3	0	4	2	3	0	4	5	rs756917832		C3L-00094_TP	C3L-00094_NB	C	C																c.964G>T	p.Val322Phe	p.V322F	ENST00000421491	2/2	385	365	20	406	405	1	strelka-varscan-mutect	PABPC4L,missense_variant,p.Val322Phe,ENST00000421491,NM_001114734.1;	A	ENST00000421491	Transcript	missense_variant	1221/4944	964/1113	322/370	V/F	Gtt/Ttt	rs756917832,COSM4939554,COSM4939555	1		-1	PABPC4L	HGNC	HGNC:31955	protein_coding	YES		ENSP00000463233	P0CB38		UPI00004DF2EA	NM_001114734.1	deleterious(0)		2/2		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628											0,1,1						MODERATE	1	SNV	3		0,1,1	1										PASS		rs756917832	.												A	3	1	9	134200056	134200056	C	A	1	0	0	0	0	1	0	0	0	11444	565	20	2		2	PABPC4L	4	134200056	Missense_Mutation	SNP	C	C3L-00094_TP	11818978	134200056	56014499	51	3185											
TBC1D9	0	.	GRCh38	chr4	140679660	140679660	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaaggtggttaatgcTgaggtacatccaaccctgac	14	8	10	9	0	0	2	0	2	0	0	1	2	1	2	2	3	4	4	2	3	5	2	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.544A>T	p.Ser182Cys	p.S182C	ENST00000442267	4/21	206	142	64	237	236	1	strelka-varscan-mutect	TBC1D9,missense_variant,p.Ser182Cys,ENST00000442267,NM_015130.2;TBC1D9,upstream_gene_variant,,ENST00000514787,;	A	ENST00000442267	Transcript	missense_variant	619/5306	544/3801	182/1266	S/C	Agc/Tgc		1		-1	TBC1D9	HGNC	HGNC:21710	protein_coding	YES	CCDS47136.1	ENSP00000411197	Q6ZT07		UPI00001C1E18	NM_015130.2	deleterious(0)		4/21		hmmpanther:PTHR22957:SF190,hmmpanther:PTHR22957,Pfam_domain:PF02893,SMART_domains:SM00568																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	140679660	140679660	T	A	1	0	0	0	0	1	0	0	0	16032	1580	55	4		4	TBC1D9	4	140679660	Missense_Mutation	SNP	T	C3L-00094_TP	6479604	140679660	49534895	52	3186											
CTNND2	0	.	GRCh38	chr5	11397041	11397041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtacctacctggctgaagCtctggcccgtagctcgggct	5	9	14	13	2	1	1	0	1	1	0	2	1	1	1	3	4	4	6	3	4	4	3	rs146014959		C3L-00094_TP	C3L-00094_NB	C	C																c.602G>T	p.Ser201Ile	p.S201I	ENST00000304623	6/22	137	125	12	80	80	0	strelka-varscan-mutect	CTNND2,missense_variant,p.Ser201Ile,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Ser110Ile,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.Ser110Ile,ENST00000513598,;CTNND2,intron_variant,,ENST00000503622,NM_001288716.1;CTNND2,intron_variant,,ENST00000502551,;CTNND2,downstream_gene_variant,,ENST00000508761,;CTNND2,intron_variant,,ENST00000504354,;CTNND2,intron_variant,,ENST00000511278,;CTNND2,missense_variant,p.Ser201Ile,ENST00000504499,;CTNND2,intron_variant,,ENST00000513588,;	A	ENST00000304623	Transcript	missense_variant	792/5481	602/3678	201/1225	S/I	aGc/aTc	rs146014959	1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	tolerated(0.08)		6/22		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9																	MODERATE	1	SNV	1			1										PASS		rs146014959	.												A	3	1	9	11397041	11397041	C	A	1	0	0	0	0	1	0	0	0	3829	797	28	2		2	CTNND2	5	11397041	Missense_Mutation	SNP	C	C3L-00094_TP		11397041	170141218	53	3187											
NPR3	0	.	GRCh38	chr5	32710721	32710721	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttgcgccgagggaccAggaaggtcaggtgctcgccc	7	6	15	13	3	1	1	1	1	0	0	2	4	1	3	4	4	2	1	4	4	1	1	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.59A>G	p.Gln20Arg	p.Q20R	ENST00000326958	1/8	112	86	26	95	95	0	strelka-varscan-mutect	NPR3,missense_variant,p.Gln20Arg,ENST00000326958,NM_001204376.1;NPR3,missense_variant,p.Gln20Arg,ENST00000434067,;NPR3,intron_variant,,ENST00000509104,;NPR3,upstream_gene_variant,,ENST00000265074,NM_001204375.1;NPR3,upstream_gene_variant,,ENST00000415167,NM_000908.3;NPR3,upstream_gene_variant,,ENST00000507141,;NPR3,non_coding_transcript_exon_variant,,ENST00000506712,;	G	ENST00000326958	Transcript	missense_variant	85/6380	59/975	20/324	Q/R	cAg/cGg		1		1	NPR3	HGNC	HGNC:7945	protein_coding		CCDS56356.1	ENSP00000318340	P17342		UPI0000E094A2	NM_001204376.1	tolerated_low_confidence(0.43)		1/8																			MODERATE		SNV	2			1										PASS		.	.												G	3	3	9	32710721	32710721	A	G	1	0	0	0	0	1	0	0	0	10652	188	7	5		5	NPR3	5	32710721	Missense_Mutation	SNP	A	C3L-00094_TP	21313680	32710721	148827538	54	3188											
C7	0	.	GRCh38	chr5	40976789	40976789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgcctaaatgtcagcgctGggagaaactgcagaattcaa	14	8	11	8	1	2	2	2	0	0	2	2	3	2	2	1	1	4	2	1	1	5	2	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.2114G>T	p.Trp705Leu	p.W705L	ENST00000313164	16/18	118	88	30	103	103	0	strelka-varscan-mutect	C7,missense_variant,p.Trp705Leu,ENST00000313164,NM_000587.2;C7,non_coding_transcript_exon_variant,,ENST00000494960,;C7,non_coding_transcript_exon_variant,,ENST00000464864,;C7,non_coding_transcript_exon_variant,,ENST00000513922,;C7,downstream_gene_variant,,ENST00000486779,;	T	ENST00000313164	Transcript	missense_variant	2473/4257	2114/2532	705/843	W/L	tGg/tTg		1		1	C7	HGNC	HGNC:1346	protein_coding	YES	CCDS47201.1	ENSP00000322061	P10643		UPI000020CA08	NM_000587.2	deleterious(0)		16/18		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF389,SMART_domains:SM00057																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	40976789	40976789	G	T	1	0	0	0	0	1	0	0	0	2134	1357	47	2		2	C7	5	40976789	Missense_Mutation	SNP	G	C3L-00094_TP	8266068	40976789	140561470	55	3189											
PARP8	0	.	GRCh38	chr5	50760360	50760360	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattacaaaaggaaaatgggGaggtatgtaaattatatttt	18	13	9	1	0	0	0	0	0	0	0	0	2	0	2	0	4	1	2	0	4	11	7			C3L-00094_TP	C3L-00094_NB	G	G																c.343G>T	p.Glu115Ter	p.E115*	ENST00000281631	5/26	30	14	16	61	61	0	strelka-varscan-mutect	PARP8,stop_gained,p.Glu115Ter,ENST00000281631,NM_024615.3;PARP8,stop_gained,p.Glu94Ter,ENST00000505554,;PARP8,stop_gained,p.Glu115Ter,ENST00000514067,NM_001178056.1;PARP8,stop_gained,p.Glu115Ter,ENST00000505697,NM_001178055.1;PARP8,stop_gained,p.Glu115Ter,ENST00000503046,;PARP8,splice_region_variant,,ENST00000514342,;PARP8,intron_variant,,ENST00000515175,;PARP8,downstream_gene_variant,,ENST00000502524,;PARP8,splice_region_variant,,ENST00000505180,;PARP8,intron_variant,,ENST00000511363,;PARP8,intron_variant,,ENST00000503561,;PARP8,intron_variant,,ENST00000503790,;PARP8,stop_gained,p.Glu115Ter,ENST00000515166,;PARP8,splice_region_variant,,ENST00000510303,;PARP8,splice_region_variant,,ENST00000503888,;PARP8,splice_region_variant,,ENST00000503193,;PARP8,splice_region_variant,,ENST00000507812,;PARP8,intron_variant,,ENST00000503707,;	T	ENST00000281631	Transcript	stop_gained,splice_region_variant	501/7177	343/2565	115/854	E/*	Gag/Tag	COSM5536488	1		1	PARP8	HGNC	HGNC:26124	protein_coding	YES	CCDS3954.1	ENSP00000281631	Q8N3A8		UPI0000073D19	NM_024615.3			5/26		hmmpanther:PTHR21328,hmmpanther:PTHR21328:SF3											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	9	50760360	50760360	G	T	1	0	0	0	0	0	1	0	0	11545	1188	41	2		2	PARP8	5	50760360	Nonsense_Mutation	SNP	G	C3L-00094_TP	9783571	50760360	130777899	56	3190											
ITGA1	0	.	GRCh38	chr5	52910263	52910263	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacaaaaatgagccatgCggggctcgttttggaactgc	13	8	12	8	2	0	1	0	1	0	0	1	3	0	2	1	3	5	2	1	3	5	2	rs565973897		C3L-00094_TP	C3L-00094_NB	C	C																c.1701C>A	p.Cys567Ter	p.C567*	ENST00000282588	14/29	266	239	27	297	297	0	strelka-varscan-mutect	ITGA1,stop_gained,p.Cys567Ter,ENST00000282588,NM_181501.1;ITGA1,non_coding_transcript_exon_variant,,ENST00000504669,;	A	ENST00000282588	Transcript	stop_gained	2159/10757	1701/3540	567/1179	C/*	tgC/tgA	rs565973897,COSM1068602	1		1	ITGA1	HGNC	HGNC:6134	protein_coding	YES	CCDS3955.1	ENSP00000282588	P56199		UPI00001A95E8	NM_181501.1			14/29		Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF22,SMART_domains:SM00191,Superfamily_domains:SSF69318											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs565973897	.												A	4	1	9	52910263	52910263	C	A	1	0	0	0	0	0	1	0	0	7779	776	27	1		1	ITGA1	5	52910263	Nonsense_Mutation	SNP	C	C3L-00094_TP	2149903	52910263	128627996	57	3191											
CAST	0	.	GRCh38	chr5	96742691	96742691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagcactcgaggctctgtcgGcttcactgggcacccggcaa	8	7	12	14	3	2	0	1	0	1	0	4	1	2	0	1	4	1	5	1	4	2	1	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1012G>T	p.Ala338Ser	p.A338S	ENST00000395812	14/30	172	129	43	192	192	0	strelka-varscan-mutect	CAST,missense_variant,p.Ala338Ser,ENST00000395812,NM_001042440.3;CAST,missense_variant,p.Ala296Ser,ENST00000395813,;CAST,missense_variant,p.Ala274Ser,ENST00000309190,NM_173060.3,NM_001284212.1;CAST,missense_variant,p.Ala48Ser,ENST00000437034,;CAST,missense_variant,p.Ala282Ser,ENST00000511049,;CAST,missense_variant,p.Ala283Ser,ENST00000338252,NM_001190442.1;CAST,missense_variant,p.Ala379Ser,ENST00000508830,;CAST,missense_variant,p.Ala296Ser,ENST00000341926,;CAST,missense_variant,p.Ala282Ser,ENST00000511782,;CAST,missense_variant,p.Ala342Ser,ENST00000508608,;CAST,missense_variant,p.Ala224Ser,ENST00000504465,NM_001284213.1;CAST,missense_variant,p.Ala357Ser,ENST00000510756,;CAST,missense_variant,p.Ala261Ser,ENST00000509903,;CAST,missense_variant,p.Ala296Ser,ENST00000510156,;CAST,missense_variant,p.Ala54Ser,ENST00000510500,;CAST,missense_variant,p.Ala11Ser,ENST00000508579,;CAST,missense_variant,p.Ala344Ser,ENST00000511097,;CAST,missense_variant,p.Ala11Ser,ENST00000509259,;CAST,missense_variant,p.Ala11Ser,ENST00000503828,;CAST,upstream_gene_variant,,ENST00000325674,;CAST,upstream_gene_variant,,ENST00000515663,;CAST,downstream_gene_variant,,ENST00000421689,;CAST,downstream_gene_variant,,ENST00000512620,;CAST,downstream_gene_variant,,ENST00000505143,;CAST,downstream_gene_variant,,ENST00000508197,;CTC-506B8.1,non_coding_transcript_exon_variant,,ENST00000502568,;CAST,non_coding_transcript_exon_variant,,ENST00000348386,;CAST,non_coding_transcript_exon_variant,,ENST00000513666,;CAST,upstream_gene_variant,,ENST00000484552,;CAST,downstream_gene_variant,,ENST00000515063,;CAST,upstream_gene_variant,,ENST00000512191,;	T	ENST00000395812	Transcript	missense_variant	1198/4506	1012/2253	338/750	A/S	Gct/Tct		1		1	CAST	HGNC	HGNC:1515	protein_coding	YES	CCDS54882.1	ENSP00000379157	P20810		UPI0000DA4C59	NM_001042440.3	tolerated(0.2)		14/30		hmmpanther:PTHR10077,hmmpanther:PTHR10077:SF0,Pfam_domain:PF00748																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	96742691	96742691	G	T	1	0	0	0	0	1	0	0	0	2383	1203	42	2		2	CAST	5	96742691	Missense_Mutation	SNP	G	C3L-00094_TP	43832428	96742691	84795568	58	3192											
TSSK1B	0	.	GRCh38	chr5	113434014	113434014	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacagagggagatccccgtgCcttgggctgcatccagcagt	8	7	13	13	1	0	2	0	0	0	2	2	3	2	2	4	2	3	3	4	2	0	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.826G>C	p.Ala276Pro	p.A276P	ENST00000390666	1/1	246	212	34	294	294	0	strelka-varscan-mutect	TSSK1B,missense_variant,p.Ala276Pro,ENST00000390666,NM_032028.3;MCC,intron_variant,,ENST00000408903,NM_001085377.1;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000416046,;CTD-2201G3.1,upstream_gene_variant,,ENST00000510381,;	G	ENST00000390666	Transcript	missense_variant	1018/2478	826/1104	276/367	A/P	Gca/Cca		1		-1	TSSK1B	HGNC	HGNC:14968	protein_coding	YES	CCDS4112.1	ENSP00000375081	Q9BXA7	A0ZT98	UPI000003C96E	NM_032028.3	tolerated(0.63)		1/1		hmmpanther:PTHR24343:SF76,hmmpanther:PTHR24343,Gene3D:1.10.510.10																	MODERATE		SNV				1										PASS		rs1404433291	.												G	3	3	9	113434014	113434014	C	G	1	0	0	0	0	1	0	0	0	17176	739	26	4		4	TSSK1B	5	113434014	Missense_Mutation	SNP	C	C3L-00094_TP	16691323	113434014	68104245	59	3193											
FBN2	0	.	GRCh38	chr5	128328737	128328737	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctggagtgaagcccatcTcacactcgcagcgatatgca	11	7	11	12	2	1	1	1	1	1	0	3	3	1	2	1	2	3	3	1	2	2	1	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.4430A>T	p.Glu1477Val	p.E1477V	ENST00000508053	40/71	409	284	125	413	413	0	strelka-varscan-mutect	FBN2,missense_variant,p.Glu1477Val,ENST00000508053,;FBN2,missense_variant,p.Glu1477Val,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Glu1476Val,ENST00000619499,;FBN2,missense_variant,p.Glu1444Val,ENST00000508989,;FBN2,missense_variant,p.Glu327Val,ENST00000507835,;	A	ENST00000508053	Transcript	missense_variant	5405/11132	4430/8739	1477/2912	E/V	gAg/gTg		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		deleterious(0)		40/71		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	9	128328737	128328737	T	A	1	0	0	0	0	1	0	0	0	5566	1551	54	4		4	FBN2	5	128328737	Missense_Mutation	SNP	T	C3L-00094_TP	14894723	128328737	53209522	60	3194											
PCDHB16	0	.	GRCh38	chr5	141183468	141183468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgacaggggaagttcgactGagaaagcaagtagatttcga	15	8	13	5	2	0	3	0	2	0	2	2	7	0	4	0	2	1	3	0	2	4	3	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.909G>A	p.=	p.L303L	ENST00000609684	1/1	249	182	67	289	288	1	strelka-varscan-mutect	PCDHB16,synonymous_variant,p.=,ENST00000609684,NM_020957.3;PCDHB16,intron_variant,,ENST00000625044,;CH17-140K24.5,intron_variant,,ENST00000623884,;PCDHB9,upstream_gene_variant,,ENST00000316105,NM_019119.4;PCDHB8,downstream_gene_variant,,ENST00000239444,NM_019120.4;PCDHB9,upstream_gene_variant,,ENST00000624909,;CH17-140K24.7,non_coding_transcript_exon_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,downstream_gene_variant,,ENST00000624089,;PCDHB9,upstream_gene_variant,,ENST00000623266,;CH17-140K24.4,downstream_gene_variant,,ENST00000623995,;CH17-140K24.5,intron_variant,,ENST00000623407,;	A	ENST00000609684	Transcript	synonymous_variant	2070/5001	909/2331	303/776	L	ctG/ctA		1		1	PCDHB16	HGNC	HGNC:14546	protein_coding	YES	CCDS4251.1	ENSP00000477314	Q9NRJ7		UPI00001273E9	NM_020957.3			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW		SNV				1										PASS		.	.												A	2	1	9	141183468	141183468	G	A	1	0	0	0	0	0	0	0	1	11628	1277	45	3		3	PCDHB16	5	141183468	Silent	SNP	G	C3L-00094_TP	12854731	141183468	40354791	61	3195											
IL17B	0	.	GRCh38	chr5	149374572	149374572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcctccggcaggtccaCggggatacggctggggtcgt	4	7	17	13	5	0	0	0	0	0	0	3	1	2	1	4	7	2	2	4	7	1	1	rs757888351		C3L-00094_TP	C3L-00094_NB	C	C																c.340G>T	p.Val114Leu	p.V114L	ENST00000261796	3/3	70	56	14	104	104	0	varscan-mutect	IL17B,missense_variant,p.Val114Leu,ENST00000261796,NM_014443.2;PCYOX1L,downstream_gene_variant,,ENST00000514349,;PCYOX1L,downstream_gene_variant,,ENST00000274569,NM_001301055.1,NM_024028.3,NM_001301054.1,NM_001301057.1;RP11-394O4.3,intron_variant,,ENST00000521756,;IL17B,non_coding_transcript_exon_variant,,ENST00000505432,;IL17B,upstream_gene_variant,,ENST00000518814,;PCYOX1L,downstream_gene_variant,,ENST00000507621,;PCYOX1L,downstream_gene_variant,,ENST00000503240,;PCYOX1L,downstream_gene_variant,,ENST00000511945,;PCYOX1L,downstream_gene_variant,,ENST00000505669,;	A	ENST00000261796	Transcript	missense_variant	391/696	340/543	114/180	V/L	Gtg/Ttg	rs757888351,COSM4692182	1		-1	IL17B	HGNC	HGNC:5982	protein_coding	YES	CCDS4297.1	ENSP00000261796	Q9UHF5		UPI0000034D64	NM_014443.2	tolerated(0.17)		3/3		hmmpanther:PTHR21295:SF3,hmmpanther:PTHR21295,Gene3D:2.10.90.10,Pfam_domain:PF06083,Superfamily_domains:SSF57501											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs757888351	.												A	3	1	9	149374572	149374572	C	A	1	0	0	0	0	1	0	0	0	7543	536	19	1		1	IL17B	5	149374572	Missense_Mutation	SNP	C	C3L-00094_TP	8191104	149374572	32163687	62	3196											
MRPL22	0	.	GRCh38	chr5	154957186	154957186	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagttggaattcaatgacAaaaaaggggccaaaataatt	18	9	8	6	0	2	1	2	1	0	0	2	2	2	2	1	3	0	1	1	3	8	4	rs200195885		C3L-00094_TP	C3L-00094_NB	A	A																c.313A>T	p.Lys105Ter	p.K105*	ENST00000523037	5/7	138	126	12	175	175	0	strelka-varscan-mutect	MRPL22,stop_gained,p.Lys105Ter,ENST00000523037,NM_014180.3;MRPL22,stop_gained,p.Lys111Ter,ENST00000522038,;MRPL22,stop_gained,p.Lys25Ter,ENST00000265229,NM_001014990.2;MRPL22,stop_gained,p.Lys131Ter,ENST00000439747,;MRPL22,upstream_gene_variant,,ENST00000518364,;MRPL22,3_prime_UTR_variant,,ENST00000519059,;MRPL22,non_coding_transcript_exon_variant,,ENST00000520040,;	T	ENST00000523037	Transcript	stop_gained	354/3176	313/621	105/206	K/*	Aaa/Taa	rs200195885	1		1	MRPL22	HGNC	HGNC:14480	protein_coding	YES	CCDS4331.1	ENSP00000431040	Q9NWU5		UPI0000046801	NM_014180.3			5/7		hmmpanther:PTHR13501:SF2,hmmpanther:PTHR13501,Gene3D:3.90.470.10,Pfam_domain:PF00237,Superfamily_domains:SSF54843																	HIGH	1	SNV	1			1										PASS		rs200195885	.												T	4	4	9	154957186	154957186	A	T	1	0	0	0	0	0	1	0	0	9763	131	5	4		4	MRPL22	5	154957186	Nonsense_Mutation	SNP	A	C3L-00094_TP	5582614	154957186	26581073	63	3197											
HAVCR2	0	.	GRCh38	chr5	157104678	157104678	+	Nonsense_Mutation	SNP	C	C	A																															atagttacctgggccatgtcCcctggtggtaagcatccttg																								novel		C3L-00094_TP	C3L-00094_NB	C	C																c.466G>T	p.Gly156Ter	p.G156*	ENST00000307851	3/7	153	136	17	145	145	0	strelka-varscan-mutect	HAVCR2,stop_gained,p.Gly156Ter,ENST00000307851,NM_032782.4;HAVCR2,stop_gained,p.Gly39Ter,ENST00000524219,;HAVCR2,intron_variant,,ENST00000522593,;CTB-120L21.1,upstream_gene_variant,,ENST00000517708,;HAVCR2,downstream_gene_variant,,ENST00000517358,;HAVCR2,non_coding_transcript_exon_variant,,ENST00000521665,;HAVCR2,downstream_gene_variant,,ENST00000522902,;	A	ENST00000307851	Transcript	stop_gained	1197/2907	466/906	156/301	G/*	Gga/Tga		1		-1	HAVCR2	HGNC	HGNC:18437	protein_coding	YES	CCDS4333.1	ENSP00000312002	Q8TDQ0		UPI000011AAFA	NM_032782.4			3/7		hmmpanther:PTHR15498:SF45,hmmpanther:PTHR15498																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	9	157104678	157104678	C	A	1	0	0	0	0	0	1	0	0	6860	632	22	2		2	HAVCR2	5	157104678	Nonsense_Mutation	SNP	C	C3L-00094_TP	2147492	157104678	24433581	64	3198	70	2									
HAVCR2	0	.	GRCh38	chr5	157104679	157104679	+	Missense_Mutation	SNP	C	C	A																															tagttacctgggccatgtccCctggtggtaagcatccttgg																								novel		C3L-00094_TP	C3L-00094_NB	C	C																c.465G>T	p.Arg155Ser	p.R155S	ENST00000307851	3/7	156	139	17	146	146	0	strelka-varscan-mutect	HAVCR2,missense_variant,p.Arg155Ser,ENST00000307851,NM_032782.4;HAVCR2,missense_variant,p.Arg38Ser,ENST00000524219,;HAVCR2,intron_variant,,ENST00000522593,;CTB-120L21.1,upstream_gene_variant,,ENST00000517708,;HAVCR2,downstream_gene_variant,,ENST00000517358,;HAVCR2,non_coding_transcript_exon_variant,,ENST00000521665,;HAVCR2,downstream_gene_variant,,ENST00000522902,;	A	ENST00000307851	Transcript	missense_variant	1196/2907	465/906	155/301	R/S	agG/agT		1		-1	HAVCR2	HGNC	HGNC:18437	protein_coding	YES	CCDS4333.1	ENSP00000312002	Q8TDQ0		UPI000011AAFA	NM_032782.4	tolerated(0.15)		3/7		hmmpanther:PTHR15498:SF45,hmmpanther:PTHR15498																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	157104679	157104679	C	A	1	0	0	0	0	1	0	0	0	6860	622	22	2		2	HAVCR2	5	157104679	Missense_Mutation	SNP	C	C3L-00094_TP	1	157104679	24433580	65	3199	70	2									
FAM196B	0	.	GRCh38	chr5	169883659	169883659	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggacctggggaaggagagCgagtaggtggggggaagatg	10	5	23	3	1	0	2	0	0	0	2	0	7	0	5	1	8	1	1	1	8	3	1			C3L-00094_TP	C3L-00094_NB	C	C																c.240G>A	p.=	p.S80S	ENST00000377365	2/4	72	59	13	77	77	0	strelka-varscan-mutect	FAM196B,synonymous_variant,p.=,ENST00000377365,NM_001129891.1;DOCK2,intron_variant,,ENST00000256935,NM_004946.2;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;	T	ENST00000377365	Transcript	synonymous_variant	1622/2999	240/1608	80/535	S	tcG/tcA	COSM5486475	1		-1	FAM196B	HGNC	HGNC:37271	protein_coding	YES	CCDS47336.1	ENSP00000366582	A6NMK8		UPI0000480500	NM_001129891.1			2/4		Pfam_domain:PF15265,hmmpanther:PTHR28682,hmmpanther:PTHR28682:SF2											1						LOW		SNV	2		1	1										PASS		rs1033924671	.												T	2	4	9	169883659	169883659	C	T	1	0	0	0	0	0	0	0	1	5374	755	27	1		1	FAM196B	5	169883659	Silent	SNP	C	C3L-00094_TP	12778980	169883659	11654600	66	3200											
NKX2-5	0	.	GRCh38	chr5	173234819	173234819	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggatagaaggcgggggCggcgggaaaggcagacgcac	11	2	20	8	5	0	2	0	0	0	2	0	4	0	4	0	7	0	2	0	7	3	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.265G>T	p.Ala89Ser	p.A89S	ENST00000329198	1/2	33	27	6	35	35	0	strelka-varscan-mutect	NKX2-5,missense_variant,p.Ala89Ser,ENST00000329198,NM_004387.3;NKX2-5,missense_variant,p.Ala89Ser,ENST00000424406,NM_001166175.1;NKX2-5,missense_variant,p.Ala89Ser,ENST00000521848,NM_001166176.1;NKX2-5,missense_variant,p.Ala89Ser,ENST00000517440,;	A	ENST00000329198	Transcript	missense_variant	539/1709	265/975	89/324	A/S	Gcc/Tcc		1		-1	NKX2-5	HGNC	HGNC:2488	protein_coding	YES	CCDS4387.1	ENSP00000327758	P52952	A0A0S2Z383	UPI0000062197	NM_004387.3	tolerated(0.6)		1/2		hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF28,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	173234819	173234819	C	A	1	0	0	0	0	1	0	0	0	10489	768	27	1		1	NKX2-5	5	173234819	Missense_Mutation	SNP	C	C3L-00094_TP	3351160	173234819	8303440	67	3201											
CDHR2	0	.	GRCh38	chr5	176568747	176568747	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctatgggatgagcggccCcaatgcctacttcttcgctg	7	10	11	13	2	1	1	0	1	1	0	2	3	1	2	4	2	3	1	4	2	3	4	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.194C>A	p.Pro65His	p.P65H	ENST00000510636	4/32	237	211	26	220	218	2	strelka-varscan-mutect	CDHR2,missense_variant,p.Pro65His,ENST00000510636,NM_001171976.1;CDHR2,missense_variant,p.Pro65His,ENST00000261944,NM_017675.4;CDHR2,missense_variant,p.Pro65His,ENST00000506348,;CDHR2,3_prime_UTR_variant,,ENST00000510124,;	A	ENST00000510636	Transcript	missense_variant	468/4509	194/3933	65/1310	P/H	cCc/cAc		1		1	CDHR2	HGNC	HGNC:18231	protein_coding	YES	CCDS34297.1	ENSP00000424565	Q9BYE9		UPI0000DBEE8C	NM_001171976.1	tolerated(0.08)		4/32		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF312,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	176568747	176568747	C	A	1	0	0	0	0	1	0	0	0	2822	623	22	2		2	CDHR2	5	176568747	Missense_Mutation	SNP	C	C3L-00094_TP	3333928	176568747	4969512	68	3202											
DSP	0	.	GRCh38	chr6	7580095	7580095	+	Missense_Mutation	SNP	G	G	T																															gaagcaggtcatgcagcagcGctctgaggacaatgcccggc																								rs760691999		C3L-00094_TP	C3L-00094_NB	G	G																c.3905G>T	p.Arg1302Leu	p.R1302L	ENST00000379802	23/24	148	103	45	164	164	0	strelka-varscan-mutect	DSP,missense_variant,p.Arg1302Leu,ENST00000379802,NM_004415.2;DSP,intron_variant,,ENST00000418664,NM_001008844.1;	T	ENST00000379802	Transcript	missense_variant	4246/9796	3905/8616	1302/2871	R/L	cGc/cTc	rs760691999,COSM122712	1		1	DSP	HGNC	HGNC:3052	protein_coding	YES	CCDS4501.1	ENSP00000369129	P15924		UPI000013C67F	NM_004415.2	tolerated(0.21)		23/24		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF234,PD936484											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs760691999	.												T	3	4	9	7580095	7580095	G	T	1	0	0	0	0	1	0	0	0	4602	1087	38	1		1	DSP	6	7580095	Missense_Mutation	SNP	G	C3L-00094_TP		7580095	163225884	69	3203	71	2									
DSP	0	.	GRCh38	chr6	7580096	7580096	+	Silent	SNP	C	C	T																															aagcaggtcatgcagcagcgCtctgaggacaatgcccggca																								novel		C3L-00094_TP	C3L-00094_NB	C	C																c.3906C>T	p.=	p.R1302R	ENST00000379802	23/24	148	102	46	160	159	1	strelka-varscan-mutect	DSP,synonymous_variant,p.=,ENST00000379802,NM_004415.2;DSP,intron_variant,,ENST00000418664,NM_001008844.1;	T	ENST00000379802	Transcript	synonymous_variant	4247/9796	3906/8616	1302/2871	R	cgC/cgT		1		1	DSP	HGNC	HGNC:3052	protein_coding	YES	CCDS4501.1	ENSP00000369129	P15924		UPI000013C67F	NM_004415.2			23/24		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF234,PD936484																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	9	7580096	7580096	C	T	1	0	0	0	0	0	0	0	1	4602	784	28	3		3	DSP	6	7580096	Silent	SNP	C	C3L-00094_TP	1	7580096	163225883	70	3204	71	2									
HIST1H2AA	0	.	GRCh38	chr6	25726188	25726188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcttgggcagcagcactgCctgaatgttaggcaggactc	8	10	12	11	0	1	1	0	1	1	0	2	2	1	2	1	3	3	5	1	3	2	3	rs780173095		C3L-00094_TP	C3L-00094_NB	C	C																c.340G>T	p.Ala114Ser	p.A114S	ENST00000297012	1/1	41	23	18	47	47	0	strelka-varscan-mutect	HIST1H2AA,missense_variant,p.Ala114Ser,ENST00000297012,NM_170745.3;HIST1H2BA,upstream_gene_variant,,ENST00000274764,NM_170610.2;	A	ENST00000297012	Transcript	missense_variant	340/396	340/396	114/131	A/S	Gca/Tca	rs780173095	1		-1	HIST1H2AA	HGNC	HGNC:18729	protein_coding	YES	CCDS4562.1	ENSP00000297012	Q96QV6		UPI0000073CDD	NM_170745.3	tolerated_low_confidence(0.24)		1/1		Gene3D:1.10.20.10,Pfam_domain:PF16211,Prints_domain:PR00620,hmmpanther:PTHR23430,SMART_domains:SM00414,Superfamily_domains:SSF47113																	MODERATE	1	SNV				1										PASS		rs780173095	.												A	3	1	9	25726188	25726188	C	A	1	0	0	0	0	1	0	0	0	7016	739	26	2		2	HIST1H2AA	6	25726188	Missense_Mutation	SNP	C	C3L-00094_TP	18146092	25726188	145079791	71	3205											
MOG	0	.	GRCh38	chr6	29667916	29667916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagagaatctccaccGgacttttggtaagttccggc	8	13	9	11	2	3	1	1	0	2	1	5	3	4	2	3	3	0	2	3	3	2	5	rs530778894		C3L-00094_TP	C3L-00094_NB	G	G																c.584G>T	p.Arg195Leu	p.R195L	ENST00000376898	5/8	354	305	49	328	327	1	strelka-varscan-mutect	MOG,missense_variant,p.Arg195Leu,ENST00000376894,;MOG,missense_variant,p.Arg195Leu,ENST00000376917,NM_206809.3;MOG,missense_variant,p.Arg195Leu,ENST00000431798,NM_206812.3;MOG,missense_variant,p.Arg79Leu,ENST00000376888,NM_206814.5;MOG,missense_variant,p.Arg195Leu,ENST00000376898,NM_002433.4;MOG,missense_variant,p.Arg195Leu,ENST00000494692,NM_206811.3;MOG,missense_variant,p.Arg195Leu,ENST00000396701,NM_206810.3;MOG,missense_variant,p.Arg195Leu,ENST00000376891,NM_001008229.2;MOG,missense_variant,p.Arg195Leu,ENST00000396704,NM_001008228.2;MOG,missense_variant,p.Arg157Leu,ENST00000416766,;MOG,missense_variant,p.Arg79Leu,ENST00000490427,NM_001170418.1;MOG,missense_variant,p.Arg79Leu,ENST00000483013,;ZFP57,downstream_gene_variant,,ENST00000376883,;ZFP57,downstream_gene_variant,,ENST00000488757,NM_001109809.2;ZFP57,downstream_gene_variant,,ENST00000376881,;MOG,downstream_gene_variant,,ENST00000469603,;MOG,downstream_gene_variant,,ENST00000476244,;MOG,3_prime_UTR_variant,,ENST00000376889,;MOG,3_prime_UTR_variant,,ENST00000485211,;MOG,downstream_gene_variant,,ENST00000376903,;MOG,upstream_gene_variant,,ENST00000485885,;	T	ENST00000376898	Transcript	missense_variant	584/1027	584/759	195/252	R/L	cGg/cTg	rs530778894,COSM4553243,COSM4553244	1		1	MOG	HGNC	HGNC:7197	protein_coding	YES	CCDS4667.1	ENSP00000366095	Q16653		UPI00004573E8	NM_002433.4	tolerated(0.19)		5/8		hmmpanther:PTHR24100,PIRSF_domain:PIRSF016522											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs530778894	.												T	3	4	9	29667916	29667916	G	T	1	0	0	0	0	1	0	0	0	9656	1116	39	1		1	MOG	6	29667916	Missense_Mutation	SNP	G	C3L-00094_TP	3941728	29667916	141138063	72	3206											
DNAH8	0	.	GRCh38	chr6	38923146	38923146	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtggagaaaaaatccggtGgacccagcaaagtaaagaat	18	5	12	6	1	0	2	0	0	0	2	1	5	1	3	2	3	1	2	2	3	7	1	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.10751G>C	p.Trp3584Ser	p.W3584S	ENST00000327475	72/93	210	179	31	185	185	0	strelka-varscan-mutect	DNAH8,missense_variant,p.Trp3584Ser,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Trp3367Ser,ENST00000359357,;DNAH8,missense_variant,p.Trp3584Ser,ENST00000449981,;RP1-207H1.3,non_coding_transcript_exon_variant,,ENST00000416948,;RP1-207H1.3,non_coding_transcript_exon_variant,,ENST00000418399,;RP1-207H1.2,upstream_gene_variant,,ENST00000407768,;	C	ENST00000327475	Transcript	missense_variant	10860/14360	10751/14124	3584/4707	W/S	tGg/tCg		1		1	DNAH8	HGNC	HGNC:2952	protein_coding	YES	CCDS75447.1	ENSP00000333363		A0A075B6F3	UPI000179A984	NM_001206927.1	deleterious(0)		72/93		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF280,Pfam_domain:PF12777																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	9	38923146	38923146	G	C	1	0	0	0	0	1	0	0	0	4422	1357	47	4		4	DNAH8	6	38923146	Missense_Mutation	SNP	G	C3L-00094_TP	9255230	38923146	131882833	73	3207											
HSP90AB1	0	.	GRCh38	chr6	44248673	44248673	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaggaggaggtggagacttTtgcctttcaggcagaaattg	11	10	15	5	0	1	3	1	0	0	3	1	6	1	5	1	5	1	1	1	5	1	4	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.44T>C	p.Phe15Ser	p.F15S	ENST00000371554	2/12	191	158	33	148	148	0	strelka-varscan-mutect	HSP90AB1,missense_variant,p.Phe15Ser,ENST00000371554,;HSP90AB1,missense_variant,p.Phe15Ser,ENST00000620073,NM_001271970.1;HSP90AB1,missense_variant,p.Phe15Ser,ENST00000353801,NM_001271969.1;HSP90AB1,missense_variant,p.Phe15Ser,ENST00000371646,NM_001271971.1,NM_007355.3,NM_001271972.1;	C	ENST00000371554	Transcript	missense_variant	258/2674	44/2175	15/724	F/S	tTt/tCt		1		1	HSP90AB1	HGNC	HGNC:5258	protein_coding	YES	CCDS4909.1	ENSP00000360609	P08238	A0A024RD80	UPI00001411EF		deleterious(0)		2/12		Gene3D:3.30.565.10,HAMAP:MF_00505,PIRSF_domain:PIRSF002583,Prints_domain:PR00775,hmmpanther:PTHR11528,Superfamily_domains:SSF55874																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	9	44248673	44248673	T	C	1	0	0	0	0	1	0	0	0	7298	1841	64	5		5	HSP90AB1	6	44248673	Missense_Mutation	SNP	T	C3L-00094_TP	5325527	44248673	126557306	74	3208											
PGK2	0	.	GRCh38	chr6	49786674	49786674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccaccatggaactatgagCgcggtgtgcagtgccaaaag	11	7	12	11	2	0	1	0	1	0	0	1	2	1	2	3	2	4	1	3	2	4	1	rs546049695		C3L-00094_TP	C3L-00094_NB	C	C																c.514G>A	p.Ala172Thr	p.A172T	ENST00000304801	1/1	225	147	78	205	205	0	strelka-varscan-mutect	PGK2,missense_variant,p.Ala172Thr,ENST00000304801,NM_138733.4;	T	ENST00000304801	Transcript	missense_variant	634/1657	514/1254	172/417	A/T	Gct/Act	rs546049695	1		-1	PGK2	HGNC	HGNC:8898	protein_coding	YES	CCDS4930.1	ENSP00000305995	P07205	A0A140VJR3	UPI0000001C72	NM_138733.4	deleterious(0)		1/1		Gene3D:3.40.50.1260,HAMAP:MF_00145,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,Prints_domain:PR00477,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF10,Superfamily_domains:SSF53748																	MODERATE	1	SNV				1										PASS		rs546049695	.												T	3	4	9	49786674	49786674	C	T	1	0	0	0	0	1	0	0	0	11880	768	27	1		1	PGK2	6	49786674	Missense_Mutation	SNP	C	C3L-00094_TP	5538001	49786674	121019305	75	3209											
PKHD1	0	.	GRCh38	chr6	51748666	51748666	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaagaagttgaaggacacCtataaacaaatgcatgtcat	18	10	7	6	0	1	2	1	1	0	1	1	3	1	3	1	1	2	2	1	1	7	4	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.8951-1G>A		p.X2984_splice	ENST00000371117		182	133	49	206	206	0	strelka-varscan-mutect	PKHD1,splice_acceptor_variant,,ENST00000371117,NM_138694.3;PKHD1,splice_acceptor_variant,,ENST00000340994,NM_170724.2;	T	ENST00000371117	Transcript	splice_acceptor_variant	-/16282	8951/12225	2984/4074				1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3				57/66																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	9	51748666	51748666	C	T	1	0	0	0	0	0	0	1	0	12067	695	24	3		3	PKHD1	6	51748666	Splice_Site	SNP	C	C3L-00094_TP	1961992	51748666	119057313	76	3210											
EYS	0	.	GRCh38	chr6	64945869	64945869	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactcattggattcttgttCacaaaaatttccttcccaat	12	15	3	11	0	3	0	2	0	1	0	5	1	5	1	2	1	0	1	2	1	3	6	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.2305G>T	p.Glu769Ter	p.E769*	ENST00000370621	15/44	111	79	32	108	107	1	strelka-varscan-mutect	EYS,stop_gained,p.Glu769Ter,ENST00000503581,NM_001142800.1;EYS,stop_gained,p.Glu769Ter,ENST00000370621,NM_001292009.1;	A	ENST00000370621	Transcript	stop_gained	2832/10485	2305/9498	769/3165	E/*	Gaa/Taa		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1			15/44		Gene3D:2gy5A03,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	HIGH	1	SNV	1			1										PASS		rs1441459124	.												A	4	1	9	64945869	64945869	C	A	1	0	0	0	0	0	1	0	0	5200	835	29	2		2	EYS	6	64945869	Nonsense_Mutation	SNP	C	C3L-00094_TP	13197203	64945869	105860110	77	3211											
HTR1E	0	.	GRCh38	chr6	87016062	87016062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacttacacagactttctGtgtgtctgacttctccacct	9	15	5	12	0	3	2	0	1	3	1	4	2	3	2	2	0	2	0	2	0	3	4	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.728G>C	p.Cys243Ser	p.C243S	ENST00000305344	2/2	231	198	33	228	228	0	strelka-varscan-mutect	HTR1E,missense_variant,p.Cys243Ser,ENST00000305344,NM_000865.2;	C	ENST00000305344	Transcript	missense_variant	1431/2052	728/1098	243/365	C/S	tGt/tCt		1		1	HTR1E	HGNC	HGNC:5291	protein_coding	YES	CCDS5006.1	ENSP00000307766	P28566		UPI000000126D	NM_000865.2	tolerated(0.69)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF33,Pfam_domain:PF00001,SMART_domains:SM01381																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	9	87016062	87016062	G	C	1	0	0	0	0	1	0	0	0	7335	1377	48	4		4	HTR1E	6	87016062	Missense_Mutation	SNP	G	C3L-00094_TP	22070193	87016062	83789917	78	3212											
MANEA	0	.	GRCh38	chr6	95605833	95605833	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtctatgattcctatattAccaagcctgaaaaatgggcc	13	12	7	9	0	1	2	0	2	1	0	2	2	2	2	4	1	2	0	4	1	7	5	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.817A>T	p.Thr273Ser	p.T273S	ENST00000358812	5/5	210	182	28	227	227	0	strelka-varscan-mutect	MANEA,missense_variant,p.Thr273Ser,ENST00000358812,NM_024641.3;MANEA,non_coding_transcript_exon_variant,,ENST00000474553,;	T	ENST00000358812	Transcript	missense_variant	951/4575	817/1389	273/462	T/S	Acc/Tcc		1		1	MANEA	HGNC	HGNC:21072	protein_coding	YES	CCDS5032.1	ENSP00000351669	Q5SRI9		UPI000020DF99	NM_024641.3	deleterious(0.01)		5/5		Pfam_domain:PF16317,hmmpanther:PTHR13572,hmmpanther:PTHR13572:SF1																	MODERATE	1	SNV	1			1										PASS		rs912621200	.												T	3	4	9	95605833	95605833	A	T	1	0	0	0	0	1	0	0	0	9142	391	14	4		4	MANEA	6	95605833	Missense_Mutation	SNP	A	C3L-00094_TP	8589771	95605833	75200146	79	3213											
FYN	0	.	GRCh38	chr6	111707941	111707941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttctgcctggatagagtCaactggagccacataattgc	10	11	9	11	0	3	1	1	0	2	1	3	3	3	3	2	2	4	0	2	2	3	4	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.424G>C	p.Asp142His	p.D142H	ENST00000354650	6/14	188	165	23	176	176	0	strelka-varscan-mutect	FYN,missense_variant,p.Asp142His,ENST00000354650,NM_002037.5;FYN,missense_variant,p.Asp142His,ENST00000368682,;FYN,missense_variant,p.Asp142His,ENST00000538466,NM_153047.3;FYN,missense_variant,p.Asp142His,ENST00000368678,;FYN,missense_variant,p.Asp142His,ENST00000368667,;FYN,missense_variant,p.Asp142His,ENST00000229471,NM_153048.3;FYN,missense_variant,p.Asp142His,ENST00000518295,;FYN,missense_variant,p.Asp142His,ENST00000523238,;FYN,missense_variant,p.Asp142His,ENST00000462856,;FYN,missense_variant,p.Asp142His,ENST00000520518,;FYN,missense_variant,p.Asp142His,ENST00000517419,;FYN,missense_variant,p.Asp142His,ENST00000524310,;FYN,downstream_gene_variant,,ENST00000523570,;FYN,downstream_gene_variant,,ENST00000518630,;FYN,downstream_gene_variant,,ENST00000523574,;FYN,non_coding_transcript_exon_variant,,ENST00000476769,;FYN,non_coding_transcript_exon_variant,,ENST00000523322,;FYN,non_coding_transcript_exon_variant,,ENST00000496864,;FYN,non_coding_transcript_exon_variant,,ENST00000495927,;FYN,non_coding_transcript_exon_variant,,ENST00000467899,;FYN,upstream_gene_variant,,ENST00000495935,;	G	ENST00000354650	Transcript	missense_variant	1031/3628	424/1614	142/537	D/H	Gac/Cac		1		-1	FYN	HGNC	HGNC:4037	protein_coding	YES	CCDS5094.1	ENSP00000346671	P06241		UPI0000141141	NM_002037.5	deleterious(0.03)		6/14		Gene3D:2.30.30.40,PROSITE_profiles:PS50002,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF44,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	9	111707941	111707941	C	G	1	0	0	0	0	1	0	0	0	5997	826	29	4		4	FYN	6	111707941	Missense_Mutation	SNP	C	C3L-00094_TP	16102108	111707941	59098038	80	3214											
NHSL1	0	.	GRCh38	chr6	138431420	138431420	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaatgagagcttctggCggcggaggggggaacacagg	12	4	19	6	2	1	1	0	1	1	1	1	5	1	4	0	8	2	1	0	8	3	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.2937G>T	p.=	p.P979P	ENST00000427025	5/7	114	95	19	109	109	0	strelka-varscan-mutect	NHSL1,synonymous_variant,p.=,ENST00000427025,NM_020464.1;NHSL1,synonymous_variant,p.=,ENST00000343505,NM_001144060.1;NHSL1,downstream_gene_variant,,ENST00000342260,;MIR3145,downstream_gene_variant,,ENST00000580727,;	A	ENST00000427025	Transcript	synonymous_variant	3566/7500	2937/4833	979/1610	P	ccG/ccT		1		-1	NHSL1	HGNC	HGNC:21021	protein_coding	YES	CCDS55063.1	ENSP00000394546	Q5SYE7		UPI0001750345	NM_020464.1			5/7		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs983992489	.												A	2	1	9	138431420	138431420	C	A	1	0	0	0	0	0	0	0	1	10444	755	27	1		1	NHSL1	6	138431420	Silent	SNP	C	C3L-00094_TP	26723479	138431420	32374559	81	3215											
CCDC28A	0	.	GRCh38	chr6	138779890	138779890	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcaactccgatccagcActccttcctcactgatgtct	8	12	5	16	1	4	1	3	1	1	0	8	2	8	1	4	0	2	1	4	0	1	1	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.497A>G	p.His166Arg	p.H166R	ENST00000611852	3/6	171	150	21	158	158	0	strelka-varscan-mutect	CCDC28A,missense_variant,p.His166Arg,ENST00000611852,;CCDC28A,missense_variant,p.His166Arg,ENST00000332797,NM_015439.2;CCDC28A,missense_variant,p.His76Arg,ENST00000617445,;	G	ENST00000611852	Transcript	missense_variant	663/1505	497/825	166/274	H/R	cAc/cGc		1		1	CCDC28A	HGNC	HGNC:21098	protein_coding	YES	CCDS5192.1	ENSP00000479060	Q8IWP9		UPI0000049DA5		deleterious(0.03)		3/6		hmmpanther:PTHR13400,hmmpanther:PTHR13400:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	9	138779890	138779890	A	G	1	0	0	0	0	1	0	0	0	2512	159	6	5		5	CCDC28A	6	138779890	Missense_Mutation	SNP	A	C3L-00094_TP	348470	138779890	32026089	82	3216											
GRID2IP	0	.	GRCh38	chr7	6503643	6503643	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgctcatcagcacctGgcgcagctccgcggggctca	6	7	11	17	3	3	0	3	0	0	0	5	0	5	0	3	3	3	5	3	3	0	0	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.2755C>T	p.Gln919Ter	p.Q919*	ENST00000457091	16/22	117	85	32	91	91	0	strelka-varscan-mutect	GRID2IP,stop_gained,p.Gln919Ter,ENST00000457091,NM_001145118.1;GRID2IP,stop_gained,p.Gln728Ter,ENST00000452113,;GRID2IP,stop_gained,p.Gln735Ter,ENST00000435185,;	A	ENST00000457091	Transcript	stop_gained	2755/3636	2755/3636	919/1211	Q/*	Cag/Tag		1		-1	GRID2IP	HGNC	HGNC:18464	protein_coding	YES	CCDS47537.1	ENSP00000397351	A4D2P6		UPI0001722D0B	NM_001145118.1			16/22		Pfam_domain:PF02181,PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF242,SMART_domains:SM00498,Superfamily_domains:SSF101447																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	9	6503643	6503643	G	A	1	0	0	0	0	0	1	0	0	6653	1357	47	3		3	GRID2IP	7	6503643	Nonsense_Mutation	SNP	G	C3L-00094_TP		6503643	152842330	83	3217											
SP4	0	.	GRCh38	chr7	21477272	21477272	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggcttcgaagagttgcCtgttcctgtcctaattgtag	9	13	11	8	1	0	2	0	0	0	2	3	3	2	2	3	1	1	4	3	1	4	6	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.1872C>A	p.=	p.A624A	ENST00000222584	4/6	214	157	57	216	216	0	strelka-varscan-mutect	SP4,synonymous_variant,p.=,ENST00000222584,NM_001326542.1,NM_001326543.1,NM_003112.3;SP4,downstream_gene_variant,,ENST00000432066,;SP4,3_prime_UTR_variant,,ENST00000448246,;	A	ENST00000222584	Transcript	synonymous_variant	2090/6126	1872/2355	624/784	A	gcC/gcA		1		1	SP4	HGNC	HGNC:11209	protein_coding	YES	CCDS5373.1	ENSP00000222584	Q02446		UPI000013C807	NM_001326542.1,NM_001326543.1,NM_003112.3			4/6		hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF17																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	9	21477272	21477272	C	A	1	0	0	0	0	0	0	0	1	15292	668	24	2		2	SP4	7	21477272	Silent	SNP	C	C3L-00094_TP	14973629	21477272	137868701	84	3218											
JAZF1	0	.	GRCh38	chr7	27895336	27895336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattccctcgagacactgagCtggacagagtcagcgagagc	11	6	12	12	2	1	4	1	1	0	3	3	7	2	5	1	1	3	1	1	1	0	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.269G>T	p.Ser90Ile	p.S90I	ENST00000283928	3/5	118	100	18	86	86	0	strelka-varscan-mutect	JAZF1,missense_variant,p.Ser90Ile,ENST00000283928,NM_175061.3;JAZF1,missense_variant,p.Ser77Ile,ENST00000427814,;JAZF1,missense_variant,p.Ser66Ile,ENST00000447620,;JAZF1,missense_variant,p.Ser57Ile,ENST00000430432,;JAZF1,non_coding_transcript_exon_variant,,ENST00000420835,;JAZF1,3_prime_UTR_variant,,ENST00000452993,;JAZF1,3_prime_UTR_variant,,ENST00000454041,;	A	ENST00000283928	Transcript	missense_variant	435/3125	269/732	90/243	S/I	aGc/aTc		1		-1	JAZF1	HGNC	HGNC:28917	protein_coding	YES	CCDS5416.1	ENSP00000283928	Q86VZ6		UPI00001B2E49	NM_175061.3	deleterious(0.04)		3/5		hmmpanther:PTHR23057																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	27895336	27895336	C	A	1	0	0	0	0	1	0	0	0	7860	797	28	2		2	JAZF1	7	27895336	Missense_Mutation	SNP	C	C3L-00094_TP	6418064	27895336	131450637	85	3219											
ZNF479	0	.	GRCh38	chr7	57120463	57120484	+	Frame_Shift_Del	DEL	TTCTCTTGTGGTCAGTGAGGGT	TTCTCTTGTGGTCAGTGAGGGT	-																															gggtttctctccagtatgaaTtctcttgtggtcagtgaggg																								novel		C3L-00094_TP	C3L-00094_NB	TTCTCTTGTGGTCAGTGAGGGT	TTCTCTTGTGGTCAGTGAGGGT																c.931_952delACCCTCACTGACCACAAGAGAA	p.Thr311PhefsTer52	p.T311Ffs*52	ENST00000331162	5/5	194	164	30	223	223	0	sindel-varindel-pindel	ZNF479,splice_acceptor_variant,,ENST00000620639,;ZNF479,frameshift_variant,p.Thr311PhefsTer52,ENST00000331162,NM_033273.2;ZNF479,frameshift_variant,p.Thr311PhefsTer52,ENST00000319636,;	-	ENST00000331162	Transcript	frameshift_variant	1202-1223/2072	931-952/1575	311-318/524	TLTDHKRI/X	ACCCTCACTGACCACAAGAGAAtt/tt		1		-1	ZNF479	HGNC	HGNC:23258	protein_coding	YES	CCDS43590.1	ENSP00000333776	Q96JC4		UPI000006E615	NM_033273.2			5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF103,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	9	57120463	57120463	TTCTCTTGTGGTCAGTGAGGGT	-	1	0	1	0	1	0	0	0	0	18505	1507	52	0		0	ZNF479	7	57120463	Frame_Shift_Del	DEL	TTCTCTTGTGGTCAGTGAGGGT	C3L-00094_TP	29225127	57120463	102225510	86	3220											
NCF1	0	.	GRCh38	chr7	74779389	74779389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgacttcttcaaggtgcGccctgatgacctcaagctcc	7	10	8	16	2	3	2	2	2	1	0	5	3	4	2	4	1	2	1	4	1	2	2	rs782205505		C3L-00094_TP	C3L-00094_NB	G	G																c.362G>T	p.Arg121Leu	p.R121L	ENST00000289473	4/11	233	178	55	181	180	1	strelka-varscan-mutect	NCF1,missense_variant,p.Arg121Leu,ENST00000289473,NM_000265.5;NCF1,missense_variant,p.Arg97Leu,ENST00000433458,;NCF1,missense_variant,p.Arg128Leu,ENST00000442021,;NCF1,non_coding_transcript_exon_variant,,ENST00000443956,;NCF1,non_coding_transcript_exon_variant,,ENST00000438106,;NCF1,3_prime_UTR_variant,,ENST00000464878,;NCF1,non_coding_transcript_exon_variant,,ENST00000398421,;NCF1,non_coding_transcript_exon_variant,,ENST00000449343,;NCF1,intron_variant,,ENST00000455062,;NCF1,upstream_gene_variant,,ENST00000488197,;NCF1,upstream_gene_variant,,ENST00000486097,;	T	ENST00000289473	Transcript	missense_variant	432/1396	362/1173	121/390	R/L	cGc/cTc	rs782205505	1		1	NCF1	HGNC	HGNC:7660	protein_coding	YES	CCDS34657.1	ENSP00000289473	P14598		UPI000013E46E	NM_000265.5	deleterious(0.04)		4/11		PROSITE_profiles:PS50195,hmmpanther:PTHR15706,Gene3D:3.30.1520.10,SMART_domains:SM00312,Superfamily_domains:SSF64268,Prints_domain:PR00498																	MODERATE	1	SNV	1			1										PASS		rs782205505	.												T	3	4	9	74779389	74779389	G	T	1	0	0	0	0	1	0	0	0	10234	1087	38	1		1	NCF1	7	74779389	Missense_Mutation	SNP	G	C3L-00094_TP	17658926	74779389	84566584	87	3221											
ANKIB1	0	.	GRCh38	chr7	92391338	92391338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agactcaccagaagctccaaGgcgcaggtaaaaaggacgta	16	4	11	10	2	1	2	1	0	0	2	2	3	2	3	2	3	1	4	2	3	6	2	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.2225G>C	p.Arg742Thr	p.R742T	ENST00000265742	16/20	70	40	30	62	62	0	strelka-varscan-mutect	ANKIB1,missense_variant,p.Arg742Thr,ENST00000265742,NM_019004.1;ANKIB1,3_prime_UTR_variant,,ENST00000422095,;ANKIB1,upstream_gene_variant,,ENST00000465883,;	C	ENST00000265742	Transcript	missense_variant	2601/6081	2225/3270	742/1089	R/T	aGg/aCg		1		1	ANKIB1	HGNC	HGNC:22215	protein_coding	YES	CCDS47639.1	ENSP00000265742	Q9P2G1		UPI00001C1E7C	NM_019004.1	deleterious(0)		16/20		hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF95																	MODERATE	1	SNV	1			1										PASS		rs1241150364	.												C	3	2	9	92391338	92391338	G	C	1	0	0	0	0	1	0	0	0	731	1000	35	4		4	ANKIB1	7	92391338	Missense_Mutation	SNP	G	C3L-00094_TP	17611949	92391338	66954635	88	3222											
SLC12A9	0	.	GRCh38	chr7	100859969	100859969	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcggaatctatgccacagcGctctcagcgtccatgagctc	9	9	9	14	3	2	1	1	1	2	0	6	2	3	2	2	1	4	2	2	1	2	1	rs140502011		C3L-00094_TP	C3L-00094_NB	G	G																c.1062G>T	p.=	p.A354A	ENST00000354161	8/14	192	145	47	169	169	0	strelka-varscan-mutect	SLC12A9,synonymous_variant,p.=,ENST00000354161,NM_020246.3;SLC12A9,synonymous_variant,p.=,ENST00000540482,NM_001267812.1;SLC12A9,synonymous_variant,p.=,ENST00000415287,NM_001267814.1;SLC12A9,synonymous_variant,p.=,ENST00000418037,;SLC12A9,synonymous_variant,p.=,ENST00000416675,;SLC12A9,downstream_gene_variant,,ENST00000434158,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000475623,;SLC12A9,upstream_gene_variant,,ENST00000482184,;SLC12A9,downstream_gene_variant,,ENST00000461016,;SLC12A9,3_prime_UTR_variant,,ENST00000448342,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000487651,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000467972,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000475687,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000497958,;SLC12A9,downstream_gene_variant,,ENST00000462106,;	T	ENST00000354161	Transcript	synonymous_variant	1187/3273	1062/2745	354/914	A	gcG/gcT	rs140502011,COSM3698053,COSM3698054	1		1	SLC12A9	HGNC	HGNC:17435	protein_coding	YES	CCDS5707.1	ENSP00000275730	Q9BXP2		UPI000006CD28	NM_020246.3			8/14		Transmembrane_helices:TMhelix,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF52,Pfam_domain:PF00324											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs140502011	.												T	2	4	9	100859969	100859969	G	T	1	0	0	0	0	0	0	0	1	14655	1074	38	1		1	SLC12A9	7	100859969	Silent	SNP	G	C3L-00094_TP	8468631	100859969	58486004	89	3223											
SLC13A1	0	.	GRCh38	chr7	123134519	123134519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagttgaggcaacgacagtCaggatagcgtctgtgtgaaa	14	8	13	6	2	2	2	1	2	1	0	2	4	2	3	0	2	2	2	0	2	4	2			C3L-00094_TP	C3L-00094_NB	C	C																c.823G>T	p.Asp275Tyr	p.D275Y	ENST00000194130	8/15	111	96	15	141	141	0	strelka-mutect	SLC13A1,missense_variant,p.Asp275Tyr,ENST00000194130,NM_022444.3;SLC13A1,3_prime_UTR_variant,,ENST00000539873,;SLC13A1,3_prime_UTR_variant,,ENST00000427975,;SLC13A1,3_prime_UTR_variant,,ENST00000439260,;	A	ENST00000194130	Transcript	missense_variant	863/3815	823/1788	275/595	D/Y	Gac/Tac	COSM744776	1		-1	SLC13A1	HGNC	HGNC:10916	protein_coding	YES	CCDS5786.1	ENSP00000194130	Q9BZW2	A4D0X1	UPI0000049F9D	NM_022444.3	deleterious(0)		8/15		hmmpanther:PTHR10283:SF65,hmmpanther:PTHR10283,Pfam_domain:PF00939											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	9	123134519	123134519	C	A	1	0	0	0	0	1	0	0	0	14656	826	29	2		2	SLC13A1	7	123134519	Missense_Mutation	SNP	C	C3L-00094_TP	22274550	123134519	36211454	90	3224											
SPAM1	0	.	GRCh38	chr7	123959837	123959837	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatggtgtctgtatagaTgcttttctaaaacctcccat	9	15	8	9	0	2	2	0	1	2	1	3	2	3	2	2	1	2	3	2	1	4	5	rs753779870		C3L-00094_TP	C3L-00094_NB	T	T																c.1398T>A	p.Asp466Glu	p.D466E	ENST00000340011	5/7	243	205	38	237	237	0	strelka-varscan-mutect	SPAM1,missense_variant,p.Asp466Glu,ENST00000340011,NM_003117.4;SPAM1,missense_variant,p.Asp466Glu,ENST00000439500,NM_001174046.1,NM_001174045.1;SPAM1,missense_variant,p.Asp466Glu,ENST00000460182,NM_001174044.1,NM_153189.2;SPAM1,missense_variant,p.Asp466Glu,ENST00000223028,;SPAM1,missense_variant,p.Asp466Glu,ENST00000402183,;	A	ENST00000340011	Transcript	missense_variant	1755/2349	1398/1536	466/511	D/E	gaT/gaA	rs753779870	1		1	SPAM1	HGNC	HGNC:11217	protein_coding	YES	CCDS5790.1	ENSP00000345849	P38567		UPI0000072166	NM_003117.4	tolerated(0.32)		5/7		hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF20,PIRSF_domain:PIRSF500773,PIRSF_domain:PIRSF038193,Prints_domain:PR00848																	MODERATE	1	SNV	1			1										PASS		rs753779870	.												A	3	1	9	123959837	123959837	T	A	1	0	0	0	0	1	0	0	0	15317	1461	51	4		4	SPAM1	7	123959837	Missense_Mutation	SNP	T	C3L-00094_TP	825318	123959837	35386136	91	3225											
ZNF800	0	.	GRCh38	chr7	127374693	127374693	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtttccaagtcagcctGcgactcctgaggttgttcat	9	12	10	10	1	2	2	2	1	0	1	4	3	4	2	3	1	2	3	3	1	2	3	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.643C>T	p.Gln215Ter	p.Q215*	ENST00000393313	5/6	127	107	20	127	127	0	strelka-varscan-mutect	ZNF800,stop_gained,p.Gln215Ter,ENST00000393313,;ZNF800,stop_gained,p.Gln215Ter,ENST00000265827,NM_176814.4;ZNF800,stop_gained,p.Gln215Ter,ENST00000393312,;ZNF800,stop_gained,p.Gln215Ter,ENST00000619291,;ZNF800,stop_gained,p.Gln215Ter,ENST00000434602,;ZNF800,downstream_gene_variant,,ENST00000436992,;ZNF800,downstream_gene_variant,,ENST00000439506,;ZNF800,upstream_gene_variant,,ENST00000485577,;	A	ENST00000393313	Transcript	stop_gained	1235/4358	643/1995	215/664	Q/*	Cag/Tag		1		-1	ZNF800	HGNC	HGNC:27267	protein_coding	YES	CCDS5795.1	ENSP00000376989	Q2TB10		UPI000020FA03				5/6		hmmpanther:PTHR21020																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	9	127374693	127374693	G	A	1	0	0	0	0	0	1	0	0	18754	1328	46	3		3	ZNF800	7	127374693	Nonsense_Mutation	SNP	G	C3L-00094_TP	3414856	127374693	31971280	92	3226											
PTN	0	.	GRCh38	chr7	137251286	137251286	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatggtgacagtcttcTggcattcggcattgtgcagg	7	12	15	7	1	2	2	0	1	2	1	3	3	2	2	0	5	1	3	0	5	0	3	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.395A>T	p.Gln132Leu	p.Q132L	ENST00000348225	4/5	364	232	132	267	267	0	strelka-varscan-mutect	PTN,missense_variant,p.Gln132Leu,ENST00000348225,NM_001321387.1,NM_002825.5;PTN,missense_variant,p.Gln132Leu,ENST00000393083,;	A	ENST00000348225	Transcript	missense_variant	823/1614	395/507	132/168	Q/L	cAg/cTg		1		-1	PTN	HGNC	HGNC:9630	protein_coding	YES	CCDS5844.1	ENSP00000341170	P21246	A0A024R778	UPI000013297B	NM_001321387.1,NM_002825.5	deleterious(0.02)		4/5		Gene3D:1mkcA00,Pfam_domain:PF01091,Prints_domain:PR00269,hmmpanther:PTHR13850,Superfamily_domains:SSF57288																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	137251286	137251286	T	A	1	0	0	0	0	1	0	0	0	12924	1580	55	4		4	PTN	7	137251286	Missense_Mutation	SNP	T	C3L-00094_TP	9876593	137251286	22094687	93	3227											
SSPO	0	.	GRCh38	chr7	149780115	149780115	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacatccacattcgctggagGaagcctggcttctgcggtac	8	9	11	13	2	1	0	0	0	1	0	3	2	2	2	2	4	3	3	2	4	2	3	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1383G>A	p.=	p.R461R	ENST00000378016	10/107	43	39	4	47	47	0	strelka-varscan-mutect	SSPO,synonymous_variant,p.=,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,intron_variant,,ENST00000486824,;SSPO,upstream_gene_variant,,ENST00000493502,;	A	ENST00000378016	Transcript	synonymous_variant	1383/15589	1383/15453	461/5150	R	agG/agA		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2			10/107		Pfam_domain:PF08742,SMART_domains:SM00832,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF294																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	9	149780115	149780115	G	A	1	0	0	0	0	0	0	0	1	15566	1165	41	3		3	SSPO	7	149780115	Silent	SNP	G	C3L-00094_TP	12528829	149780115	9565858	94	3228											
USP17L7	0	.	GRCh38	chr8	12133134	12133134	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaggatattgcacattcttGgcaagtttgttgcctgtgac	8	16	10	7	0	1	1	0	1	1	0	1	2	1	2	1	2	2	4	1	2	3	7	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.876C>G	p.=	p.A292A	ENST00000530447	1/1	509	291	218	569	568	1	strelka-varscan-mutect	USP17L7,synonymous_variant,p.=,ENST00000530447,NM_001256869.1;USP17L2,downstream_gene_variant,,ENST00000333796,NM_201402.2;FAM66D,intron_variant,,ENST00000434078,;RP11-1236K1.8,upstream_gene_variant,,ENST00000526505,;	C	ENST00000530447	Transcript	synonymous_variant	1311/2028	876/1593	292/530	A	gcC/gcG		1		-1	USP17L7	HGNC	HGNC:37180	protein_coding	YES	CCDS78305.1	ENSP00000485337	P0C7H9		UPI00001972BD	NM_001256869.1			1/1		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF511,Superfamily_domains:SSF54001																	LOW		SNV				1										PASS		rs992727440	.												C	2	2	9	12133134	12133134	G	C	1	0	0	0	0	0	0	0	1	17589	1335	47	4		4	USP17L7	8	12133134	Silent	SNP	G	C3L-00094_TP		12133134	133005502	95	3229											
USP17L2	0	.	GRCh38	chr8	12137885	12137885	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatattgcacattcttGgcaagtttgttgcctgtgac	8	15	10	8	0	2	1	1	1	1	0	2	2	2	2	1	2	2	4	1	2	2	6	rs771568275		C3L-00094_TP	C3L-00094_NB	G	G																c.876C>G	p.=	p.A292A	ENST00000333796	1/1	800	756	44	743	743	0	varscan-mutect	USP17L2,synonymous_variant,p.=,ENST00000333796,NM_201402.2;USP17L7,upstream_gene_variant,,ENST00000530447,NM_001256869.1;FAM66D,intron_variant,,ENST00000434078,;	C	ENST00000333796	Transcript	synonymous_variant	1193/1910	876/1593	292/530	A	gcC/gcG	rs771568275	1		-1	USP17L2	HGNC	HGNC:34434	protein_coding	YES	CCDS43713.1	ENSP00000333329	Q6R6M4		UPI0000198137	NM_201402.2			1/1		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF511,Superfamily_domains:SSF54001																	LOW		SNV				1										PASS		rs771568275	.												C	2	2	9	12137885	12137885	G	C	1	0	0	0	0	0	0	0	1	17586	1335	47	4		4	USP17L2	8	12137885	Silent	SNP	G	C3L-00094_TP	4751	12137885	133000751	96	3230											
NRG1	0	.	GRCh38	chr8	32756408	32756408	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttatgtccaggaaacAgcggaaaaagctgcatgacc	13	9	9	10	1	1	1	0	1	1	0	2	3	2	3	2	2	4	2	2	2	4	2	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.824A>T	p.Gln275Leu	p.Q275L	ENST00000287842	10/13	66	37	29	98	98	0	strelka-varscan-mutect	NRG1,missense_variant,p.Gln267Leu,ENST00000356819,NM_013957.3;NRG1,missense_variant,p.Gln343Leu,ENST00000523534,;NRG1,missense_variant,p.Gln116Leu,ENST00000539990,NM_001159996.1;NRG1,missense_variant,p.Gln267Leu,ENST00000523079,NM_001160008.1,NM_001160004.1;NRG1,missense_variant,p.Gln275Leu,ENST00000287842,NM_013956.3;NRG1,missense_variant,p.Gln270Leu,ENST00000405005,NM_013964.3;NRG1,missense_variant,p.Gln220Leu,ENST00000519301,NM_001160001.1;NRG1,missense_variant,p.Gln270Leu,ENST00000521670,NM_013960.3;NRG1,missense_variant,p.Gln237Leu,ENST00000518104,NM_001159995.1,NM_001159999.1;NRG1,missense_variant,p.Gln116Leu,ENST00000522402,;NRG1,missense_variant,p.Gln113Leu,ENST00000519240,;NRG1,downstream_gene_variant,,ENST00000518084,;NRG1,non_coding_transcript_exon_variant,,ENST00000522569,;	T	ENST00000287842	Transcript	missense_variant	916/2035	824/1938	275/645	Q/L	cAg/cTg		1		1	NRG1	HGNC	HGNC:7997	protein_coding	YES	CCDS6083.1	ENSP00000287842	Q02297		UPI000013DED7	NM_013956.3	deleterious(0)		10/13		hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF7,Pfam_domain:PF02158																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	32756408	32756408	A	T	1	0	0	0	0	1	0	0	0	10705	202	7	4		4	NRG1	8	32756408	Missense_Mutation	SNP	A	C3L-00094_TP	20618523	32756408	112382228	97	3231											
ADAM2	0	.	GRCh38	chr8	39821171	39821171	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaactgtagtacgcccCtaaaaatttcaaaaaaaaat	19	11	3	8	1	2	0	2	0	0	0	2	0	2	0	2	0	2	2	2	0	10	5	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.345-1G>T		p.X115_splice	ENST00000265708		34	20	14	50	49	1	strelka-varscan-mutect	ADAM2,splice_acceptor_variant,,ENST00000265708,NM_001464.4;ADAM2,splice_acceptor_variant,,ENST00000347580,NM_001278113.1;ADAM2,splice_acceptor_variant,,ENST00000622267,;ADAM2,splice_acceptor_variant,,ENST00000379853,;ADAM2,splice_acceptor_variant,,ENST00000521880,NM_001278114.1;ADAM2,splice_acceptor_variant,,ENST00000523181,;	A	ENST00000265708	Transcript	splice_acceptor_variant	-/2672	345/2208	115/735				1		-1	ADAM2	HGNC	HGNC:198	protein_coding	YES	CCDS34884.1	ENSP00000265708	Q99965		UPI00001254C2	NM_001464.4				5/20																		HIGH	1	SNV	1			1										PASS		rs1333713505	.												A	5	1	9	39821171	39821171	C	A	1	0	0	0	0	0	0	1	0	285	695	24	2		2	ADAM2	8	39821171	Splice_Site	SNP	C	C3L-00094_TP	7064763	39821171	105317465	98	3232											
C8orf34	0	.	GRCh38	chr8	68533134	68533134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattgataatgaagatgatGcaatggaattgctgggtaat	15	13	11	2	0	0	4	0	3	0	1	0	5	0	5	0	2	2	3	0	2	6	5	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1090G>A	p.Ala364Thr	p.A364T	ENST00000518698	7/14	71	66	5	72	72	0	varscan-mutect	C8orf34,missense_variant,p.Ala253Thr,ENST00000337103,;C8orf34,missense_variant,p.Ala278Thr,ENST00000348340,NM_001195639.1;C8orf34,missense_variant,p.Ala364Thr,ENST00000518698,NM_052958.2;C8orf34,non_coding_transcript_exon_variant,,ENST00000518515,;C8orf34,3_prime_UTR_variant,,ENST00000521406,;	A	ENST00000518698	Transcript	missense_variant	1381/2223	1090/1617	364/538	A/T	Gca/Aca		1		1	C8orf34	HGNC	HGNC:30905	protein_coding	YES	CCDS6203.2	ENSP00000427820	Q49A92		UPI000021D12D	NM_052958.2	deleterious(0)		7/14		hmmpanther:PTHR32000,hmmpanther:PTHR32000:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	9	68533134	68533134	G	A	1	0	0	0	0	1	0	0	0	2155	1319	46	3		3	C8orf34	8	68533134	Missense_Mutation	SNP	G	C3L-00094_TP	28711963	68533134	76605502	99	3233											
TRPA1	0	.	GRCh38	chr8	72050868	72050868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaatcttaagacattcatcCcatctgtaaaaaataaataa	21	11	2	7	0	3	1	1	0	2	1	4	1	4	1	1	0	0	1	1	0	9	5	rs777465678		C3L-00094_TP	C3L-00094_NB	C	C																c.1815G>T	p.Trp605Cys	p.W605C	ENST00000262209	15/27	123	76	47	174	174	0	strelka-varscan-mutect	TRPA1,missense_variant,p.Trp605Cys,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Trp457Cys,ENST00000523582,;MSC-AS1,intron_variant,,ENST00000457356,;MSC-AS1,intron_variant,,ENST00000522519,;MSC-AS1,intron_variant,,ENST00000518916,;MSC-AS1,intron_variant,,ENST00000512290,;MSC-AS1,intron_variant,,ENST00000519751,;MSC-AS1,intron_variant,,ENST00000524152,;MSC-AS1,intron_variant,,ENST00000519068,;TRPA1,downstream_gene_variant,,ENST00000520788,;TRPA1,upstream_gene_variant,,ENST00000522271,;	A	ENST00000262209	Transcript	missense_variant	2023/5223	1815/3360	605/1119	W/C	tgG/tgT	rs777465678	1		-1	TRPA1	HGNC	HGNC:497	protein_coding	YES	CCDS34908.1	ENSP00000262209	O75762		UPI000021081A	NM_007332.2	tolerated(0.27)		15/27		hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF6,SMART_domains:SM00248																	MODERATE	1	SNV	1			1										PASS		rs777465678	.												A	3	1	9	72050868	72050868	C	A	1	0	0	0	0	1	0	0	0	17082	637	22	2		2	TRPA1	8	72050868	Missense_Mutation	SNP	C	C3L-00094_TP	3517734	72050868	73087768	100	3234											
NBN	0	.	GRCh38	chr8	89943258	89943258	+	Frame_Shift_Del	DEL	T	T	-																															tcacttcctactaacctccaTttcctgccttagccactctt																								novel		C3L-00094_TP	C3L-00094_NB	T	T																c.2179delA	p.Met727TrpfsTer24	p.M727Wfs*24	ENST00000265433	14/16	352	207	145	402	402	0	sindel-varindel-pindel	NBN,frameshift_variant,p.Met727TrpfsTer24,ENST00000265433,NM_002485.4;NBN,frameshift_variant,p.Met645TrpfsTer24,ENST00000409330,;NBN,frameshift_variant,p.Met97TrpfsTer24,ENST00000613033,;NBN,3_prime_UTR_variant,,ENST00000396252,NM_001024688.2;NBN,downstream_gene_variant,,ENST00000520325,;	-	ENST00000265433	Transcript	frameshift_variant	2334/4666	2179/2265	727/754	M/X	Atg/tg		1		-1	NBN	HGNC	HGNC:7652	protein_coding	YES	CCDS6249.1	ENSP00000265433	O60934		UPI0000073BF4	NM_002485.4			14/16		hmmpanther:PTHR12162,hmmpanther:PTHR12162:SF0,PIRSF_domain:PIRSF011869,Pfam_domain:PF08599,SMART_domains:SM01348																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	9	89943258	89943258	T	-	1	0	1	0	1	0	0	0	0	10202	1507	52	0		0	NBN	8	89943258	Frame_Shift_Del	DEL	T	C3L-00094_TP	17892390	89943258	55195378	101	3235											
HAS2	0	.	GRCh38	chr8	121614953	121614953	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgaacacacccaaaataaGactgacaggccctttctata	16	8	5	12	0	1	3	0	2	1	1	1	3	1	3	2	1	1	0	2	1	6	4	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.815C>G	p.Ser272Cys	p.S272C	ENST00000303924	4/4	187	90	97	177	177	0	strelka-varscan-mutect	HAS2,missense_variant,p.Ser272Cys,ENST00000303924,NM_005328.2;	C	ENST00000303924	Transcript	missense_variant	1353/4190	815/1659	272/552	S/C	tCt/tGt		1		-1	HAS2	HGNC	HGNC:4819	protein_coding	YES	CCDS6335.1	ENSP00000306991	Q92819		UPI000012C0A9	NM_005328.2	deleterious(0)		4/4		Gene3D:3.90.550.10,Pfam_domain:PF13641,hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF7,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	9	121614953	121614953	G	C	1	0	0	0	0	1	0	0	0	6848	942	33	4		4	HAS2	8	121614953	Missense_Mutation	SNP	G	C3L-00094_TP	31671695	121614953	23523683	102	3236											
FAM135B	0	.	GRCh38	chr8	138132680	138132680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcgatgtgagcggctcggccGatcagggtgttggcagtgtt	5	10	18	8	4	1	1	1	1	0	0	2	3	1	1	1	4	1	4	1	4	0	2	rs371041013		C3L-00094_TP	C3L-00094_NB	G	G																c.4134C>G	p.Ile1378Met	p.I1378M	ENST00000395297	20/20	441	229	212	455	455	0	strelka-varscan-mutect	FAM135B,missense_variant,p.Ile1378Met,ENST00000395297,NM_015912.3;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,3_prime_UTR_variant,,ENST00000276737,;	C	ENST00000395297	Transcript	missense_variant	4305/6962	4134/4221	1378/1406	I/M	atC/atG	rs371041013,COSM1551721,COSM1551722	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	deleterious(0)		20/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs371041013	.												C	3	2	9	138132680	138132680	G	C	1	0	0	0	0	1	0	0	0	5299	1048	37	4		4	FAM135B	8	138132680	Missense_Mutation	SNP	G	C3L-00094_TP	16517727	138132680	7005956	103	3237											
ARHGAP39	0	.	GRCh38	chr8	144530492	144530492	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaaggacatctccttgCgggtgttctcgaagatgacg	9	9	14	9	3	2	2	0	1	2	1	4	5	2	4	1	3	1	2	1	3	2	2	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.3275G>T	p.Arg1092Leu	p.R1092L	ENST00000377307	11/11	197	79	118	141	141	0	strelka-varscan-mutect	ARHGAP39,missense_variant,p.Arg1061Leu,ENST00000276826,NM_001308208.1,NM_001308207.1;ARHGAP39,missense_variant,p.Arg1092Leu,ENST00000377307,NM_025251.1;C8orf82,upstream_gene_variant,,ENST00000524821,NM_001001795.1;C8orf82,upstream_gene_variant,,ENST00000313465,;LRRC24,upstream_gene_variant,,ENST00000529415,NM_001024678.3;LRRC24,upstream_gene_variant,,ENST00000533758,;C8orf82,upstream_gene_variant,,ENST00000532827,;C8orf82,upstream_gene_variant,,ENST00000527462,;C8orf82,upstream_gene_variant,,ENST00000534680,;	A	ENST00000377307	Transcript	missense_variant	3360/4673	3275/3345	1092/1114	R/L	cGc/cTc		1		-1	ARHGAP39	HGNC	HGNC:29351	protein_coding	YES	CCDS34971.1	ENSP00000366522	Q9C0H5		UPI000021015B	NM_025251.1	deleterious(0)		11/11		PROSITE_profiles:PS50238,hmmpanther:PTHR23177,hmmpanther:PTHR23177:SF9,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	9	144530492	144530492	C	A	1	0	0	0	0	1	0	0	0	1010	768	27	1		1	ARHGAP39	8	144530492	Missense_Mutation	SNP	C	C3L-00094_TP	6397812	144530492	608144	104	3238											
PTPRD	0	.	GRCh38	chr9	8518372	8518372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagagtcccacgtcagtGtgatgcttgtagctgtgctc	6	12	11	12	1	1	2	1	1	0	1	4	2	3	2	2	0	3	4	2	0	1	2	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1019C>T	p.Thr340Ile	p.T340I	ENST00000381196	18/43	109	81	28	90	90	0	strelka-varscan-mutect	PTPRD,missense_variant,p.Thr340Ile,ENST00000381196,NM_002839.3;PTPRD,missense_variant,p.Thr340Ile,ENST00000356435,;PTPRD,missense_variant,p.Thr340Ile,ENST00000355233,NM_130392.3;PTPRD,missense_variant,p.Thr330Ile,ENST00000397617,;PTPRD,missense_variant,p.Thr337Ile,ENST00000397611,NM_001040712.2;PTPRD,missense_variant,p.Thr334Ile,ENST00000537002,NM_130393.3;PTPRD,missense_variant,p.Thr340Ile,ENST00000540109,;PTPRD,missense_variant,p.Thr340Ile,ENST00000486161,NM_130391.3;PTPRD,missense_variant,p.Thr330Ile,ENST00000397606,NM_001171025.1;	A	ENST00000381196	Transcript	missense_variant	1563/9911	1019/5739	340/1912	T/I	aCa/aTa		1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3	deleterious(0)		18/43		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF313,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	9	8518372	8518372	G	A	1	0	0	0	0	1	0	0	0	12953	1377	48	3		3	PTPRD	9	8518372	Missense_Mutation	SNP	G	C3L-00094_TP		8518372	129876345	105	3239											
BNC2	0	.	GRCh38	chr9	16436593	16436593	+	Frame_Shift_Del	DEL	G	G	-																															aacccattgggggtcggccaGggcttgtgagtgccagattt																								novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1601delC	p.Pro534LeufsTer13	p.P534Lfs*13	ENST00000380672	6/7	252	217	35	301	301	0	sindel-varindel-pindel	BNC2,frameshift_variant,p.Pro534LeufsTer13,ENST00000380672,NM_001317940.1,NM_017637.5;BNC2,frameshift_variant,p.Pro360LeufsTer13,ENST00000545497,;BNC2,frameshift_variant,p.Pro491LeufsTer13,ENST00000418777,;BNC2,frameshift_variant,p.Pro467LeufsTer13,ENST00000380667,;BNC2,upstream_gene_variant,,ENST00000411752,;BNC2,downstream_gene_variant,,ENST00000380666,;BNC2,downstream_gene_variant,,ENST00000603713,;BNC2,frameshift_variant,p.Pro534LeufsTer13,ENST00000484726,;	-	ENST00000380672	Transcript	frameshift_variant	1659/12844	1601/3300	534/1099	P/X	cCt/ct		1		-1	BNC2	HGNC	HGNC:30988	protein_coding	YES	CCDS6482.2	ENSP00000370047	Q6ZN30		UPI000035E7B0	NM_001317940.1,NM_017637.5			6/7		hmmpanther:PTHR15021:SF2,hmmpanther:PTHR15021																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	9	16436593	16436593	G	-	1	0	1	0	1	0	0	0	0	1631	1000	35	0		0	BNC2	9	16436593	Frame_Shift_Del	DEL	G	C3L-00094_TP	7918221	16436593	121958124	106	3240											
UNC13B	0	.	GRCh38	chr9	35310754	35310754	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagatctggtgctgcaaaAagaccacttcctaggtcccc	10	8	8	15	0	1	2	0	0	1	2	3	2	3	2	5	2	2	2	5	2	3	2	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.1049A>G	p.Lys350Arg	p.K350R	ENST00000378495	9/39	114	87	27	106	105	1	strelka-varscan-mutect	UNC13B,missense_variant,p.Lys3099Arg,ENST00000635942,;UNC13B,missense_variant,p.Lys350Arg,ENST00000619578,;UNC13B,missense_variant,p.Lys350Arg,ENST00000378495,NM_006377.3;UNC13B,missense_variant,p.Lys362Arg,ENST00000396787,;UNC13B,5_prime_UTR_variant,,ENST00000617908,;UNC13B,5_prime_UTR_variant,,ENST00000378496,;UNC13B,missense_variant,p.Lys350Arg,ENST00000634487,;	G	ENST00000378495	Transcript	missense_variant	1271/6303	1049/4776	350/1591	K/R	aAa/aGa		1		1	UNC13B	HGNC	HGNC:12566	protein_coding	YES	CCDS6579.1	ENSP00000367756	O14795		UPI0000211336	NM_006377.3	tolerated_low_confidence(0.33)		9/39		hmmpanther:PTHR10480																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	9	35310754	35310754	A	G	1	0	0	0	0	1	0	0	0	17509	14	1	5		5	UNC13B	9	35310754	Missense_Mutation	SNP	A	C3L-00094_TP	18874161	35310754	103083963	107	3241											
CNTNAP3	0	.	GRCh38	chr9	39073890	39073890	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcactgtttagagctgtcCtagcactcttctttttttga	6	18	7	10	0	3	2	1	1	2	1	4	2	4	2	1	0	2	4	1	0	2	7	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.3867G>C	p.Ter1289TyrextTer6	p.*1289Yext*6	ENST00000297668	24/24	1305	1212	93	1258	1258	0	varscan-mutect	CNTNAP3,stop_lost,p.Ter1289TyrextTer6,ENST00000297668,NM_033655.3;CNTNAP3,stop_lost,p.Ter1208TyrextTer6,ENST00000377656,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000493965,;CNTNAP3,downstream_gene_variant,,ENST00000477002,;	G	ENST00000297668	Transcript	stop_lost	3941/5064	3867/3867	1289/1288	*/Y	taG/taC		1		-1	CNTNAP3	HGNC	HGNC:13834	protein_coding	YES	CCDS6616.1	ENSP00000297668	Q9BZ76		UPI000013E43B	NM_033655.3			24/24																			HIGH	1	SNV	1			1										PASS		.	.												G	4	3	9	39073890	39073890	C	G	1	0	0	0	0	0	0	0	0	3429	692	24	4		4	CNTNAP3	9	39073890	Nonstop_Mutation	SNP	C	C3L-00094_TP	3763136	39073890	99320827	108	3242											
ANKRD20A4	0	.	GRCh38	chr9	64409437	64409437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtctttatctgcagatGcaccttaaaacaagaaaatg	17	11	6	7	0	2	2	0	0	2	2	2	2	2	2	1	0	3	2	1	0	7	3	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1319G>T	p.Cys440Phe	p.C440F	ENST00000357336	14/15	34	26	8	81	81	0	strelka-varscan-mutect	ANKRD20A4,missense_variant,p.Cys440Phe,ENST00000357336,NM_001098805.1;	T	ENST00000357336	Transcript	missense_variant,splice_region_variant	1600/4137	1319/2472	440/823	C/F	tGc/tTc		1		1	ANKRD20A4	HGNC	HGNC:31982	protein_coding	YES	CCDS43828.1	ENSP00000349891	Q4UJ75		UPI000051917A	NM_001098805.1	tolerated(0.94)		14/15		hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	64409437	64409437	G	T	1	0	0	0	0	1	0	0	0	753	1333	46	2		2	ANKRD20A4	9	64409437	Missense_Mutation	SNP	G	C3L-00094_TP	25335547	64409437	73985280	109	3243											
ABHD17B	0	.	GRCh38	chr9	71874678	71874678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttctctgtgggtttccCggaactggcaccatatccag	6	13	10	12	1	2	0	0	0	2	0	5	1	4	1	3	3	1	3	3	3	2	4			C3L-00094_TP	C3L-00094_NB	C	C																c.403G>T	p.Gly135Trp	p.G135W	ENST00000377041	2/5	67	49	18	78	78	0	strelka-varscan-mutect	ABHD17B,missense_variant,p.Gly135Trp,ENST00000333421,NM_001025780.1;ABHD17B,missense_variant,p.Gly135Trp,ENST00000377041,NM_016014.2;	A	ENST00000377041	Transcript	missense_variant	704/1312	403/882	135/293	G/W	Ggg/Tgg	COSM5338721,COSM5338722	1		-1	ABHD17B	HGNC	HGNC:24278	protein_coding	YES	CCDS35042.1	ENSP00000366240	Q5VST6		UPI0000210B1F	NM_016014.2	deleterious(0)		2/5		Gene3D:3.40.50.1820,Pfam_domain:PF12146,hmmpanther:PTHR12277,hmmpanther:PTHR12277:SF48,Low_complexity_(Seg):seg,Superfamily_domains:SSF53474											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs768914021	.												A	3	1	9	71874678	71874678	C	A	1	0	0	0	0	1	0	0	0	89	652	23	1		1	ABHD17B	9	71874678	Missense_Mutation	SNP	C	C3L-00094_TP	7465241	71874678	66520039	110	3244											
GCNT1	0	.	GRCh38	chr9	76502952	76502952	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggtttatgcatcgtggAgccgggttcaggctgacctc	5	12	15	9	2	1	1	1	1	0	0	3	2	1	2	2	4	2	4	2	4	1	3	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.571A>T	p.Ser191Cys	p.S191C	ENST00000442371	3/3	198	162	36	206	206	0	strelka-varscan-mutect	GCNT1,missense_variant,p.Ser191Cys,ENST00000442371,NM_001097634.1;GCNT1,missense_variant,p.Ser191Cys,ENST00000376730,NM_001490.4;GCNT1,missense_variant,p.Ser191Cys,ENST00000444201,NM_001097633.1,NM_001097635.1,NM_001097636.1;GCNT1,downstream_gene_variant,,ENST00000488136,;GCNT1,downstream_gene_variant,,ENST00000480311,;	T	ENST00000442371	Transcript	missense_variant	1510/5972	571/1287	191/428	S/C	Agc/Tgc		1		1	GCNT1	HGNC	HGNC:4203	protein_coding	YES	CCDS6653.1	ENSP00000415454	Q02742		UPI000013CF63	NM_001097634.1	deleterious(0)		3/3		Pfam_domain:PF02485,hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF81																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	76502952	76502952	A	T	1	0	0	0	0	1	0	0	0	6170	304	11	4		4	GCNT1	9	76502952	Missense_Mutation	SNP	A	C3L-00094_TP	4628274	76502952	61891765	111	3245											
WNK2	0	.	GRCh38	chr9	93234879	93234879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggacgtctatgcctttGggatgtgcatgctggagatg	6	12	15	8	2	1	1	0	0	1	1	1	4	1	3	2	3	3	2	2	3	1	2	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1147G>A	p.Gly383Arg	p.G383R	ENST00000297954	4/30	187	127	60	170	170	0	strelka-varscan-mutect	WNK2,missense_variant,p.Gly379Arg,ENST00000432730,;WNK2,missense_variant,p.Gly383Arg,ENST00000297954,NM_001282394.1;WNK2,missense_variant,p.Gly383Arg,ENST00000395477,NM_006648.3;WNK2,missense_variant,p.Gly383Arg,ENST00000448039,;WNK2,5_prime_UTR_variant,,ENST00000427277,;WNK2,upstream_gene_variant,,ENST00000411624,;	A	ENST00000297954	Transcript	missense_variant	1147/7138	1147/6894	383/2297	G/R	Ggg/Agg		1		1	WNK2	HGNC	HGNC:14542	protein_coding	YES	CCDS75858.1	ENSP00000297954	Q9Y3S1		UPI0000236D76	NM_001282394.1	deleterious(0)		4/30		PROSITE_profiles:PS50011,hmmpanther:PTHR13902:SF10,hmmpanther:PTHR13902,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	93234879	93234879	G	A	1	0	0	0	0	1	0	0	0	17934	1348	47	3		3	WNK2	9	93234879	Missense_Mutation	SNP	G	C3L-00094_TP	16731927	93234879	45159838	112	3246											
HABP4	0	.	GRCh38	chr9	96488119	96488119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactatgaggacgattccCatgttttccggaaacccgcc	10	10	9	12	3	0	2	0	2	0	0	2	5	2	4	4	2	1	1	4	2	2	4	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.1030C>T	p.His344Tyr	p.H344Y	ENST00000375249	7/8	134	91	43	100	99	1	strelka-varscan-mutect	HABP4,missense_variant,p.His344Tyr,ENST00000375249,NM_014282.3;HABP4,missense_variant,p.His239Tyr,ENST00000375251,;HABP4,non_coding_transcript_exon_variant,,ENST00000466976,;CDC14B,downstream_gene_variant,,ENST00000474602,;	T	ENST00000375249	Transcript	missense_variant	1105/2615	1030/1242	344/413	H/Y	Cat/Tat		1		1	HABP4	HGNC	HGNC:17062	protein_coding	YES	CCDS6719.1	ENSP00000364398	Q5JVS0		UPI000013E8DB	NM_014282.3	tolerated(0.11)		7/8		hmmpanther:PTHR12299,hmmpanther:PTHR12299:SF30																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	96488119	96488119	C	T	1	0	0	0	0	1	0	0	0	6821	594	21	3		3	HABP4	9	96488119	Missense_Mutation	SNP	C	C3L-00094_TP	3253240	96488119	41906598	113	3247											
MRRF	0	.	GRCh38	chr9	122280513	122280513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgaggatataatcaacttGgaagaggtgaatgaagaaat	17	10	12	2	0	1	5	1	3	0	2	1	7	1	7	0	3	1	1	0	3	7	4	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.255G>T	p.Leu85Phe	p.L85F	ENST00000344641	3/7	295	274	21	292	291	1	strelka-varscan-mutect	MRRF,missense_variant,p.Leu85Phe,ENST00000344641,NM_138777.3;MRRF,missense_variant,p.Leu85Phe,ENST00000394315,NM_199177.2;MRRF,missense_variant,p.Leu85Phe,ENST00000373723,;MRRF,missense_variant,p.Leu41Phe,ENST00000373729,;MRRF,missense_variant,p.Leu85Phe,ENST00000441707,;MRRF,intron_variant,,ENST00000297908,NM_001173512.1;MRRF,non_coding_transcript_exon_variant,,ENST00000373724,;MRRF,missense_variant,p.Leu85Phe,ENST00000489572,;MRRF,missense_variant,p.Leu85Phe,ENST00000470366,;MRRF,missense_variant,p.Leu85Phe,ENST00000467864,;MRRF,non_coding_transcript_exon_variant,,ENST00000373728,;MRRF,non_coding_transcript_exon_variant,,ENST00000373727,;	T	ENST00000344641	Transcript	missense_variant	566/9826	255/789	85/262	L/F	ttG/ttT		1		1	MRRF	HGNC	HGNC:7234	protein_coding	YES	CCDS6840.1	ENSP00000343867	Q96E11		UPI000007291D	NM_138777.3	tolerated(0.06)		3/7		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR20982,Superfamily_domains:SSF55194																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	9	122280513	122280513	G	T	1	0	0	0	0	1	0	0	0	9827	1339	47	2		2	MRRF	9	122280513	Missense_Mutation	SNP	G	C3L-00094_TP	25792394	122280513	16114204	114	3248											
PDCL	0	.	GRCh38	chr9	122826649	122826649	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccttcgcctgccagctCagcctctgcaggcacagaac	8	7	10	16	1	2	1	1	0	1	1	3	2	2	1	4	1	6	3	4	1	1	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.139G>T	p.Glu47Ter	p.E47*	ENST00000259467	2/4	187	157	30	140	140	0	strelka-varscan-mutect	PDCL,stop_gained,p.Glu47Ter,ENST00000259467,NM_005388.4;PDCL,stop_gained,p.Glu36Ter,ENST00000394285,;PDCL,stop_gained,p.Glu14Ter,ENST00000436632,;	A	ENST00000259467	Transcript	stop_gained	305/2813	139/906	47/301	E/*	Gag/Tag		1		-1	PDCL	HGNC	HGNC:8770	protein_coding	YES	CCDS6845.1	ENSP00000259467	Q13371		UPI0000131988	NM_005388.4			2/4		Pfam_domain:PF02114,Prints_domain:PR00677,hmmpanther:PTHR21148,hmmpanther:PTHR21148:SF21,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	9	122826649	122826649	C	A	1	0	0	0	0	0	1	0	0	11714	835	29	2		2	PDCL	9	122826649	Nonsense_Mutation	SNP	C	C3L-00094_TP	546136	122826649	15568068	115	3249											
SURF1	0	.	GRCh38	chr9	133353770	133353770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggtcggtgcagtggaagGgagtgaccacataggcccca	10	5	15	11	1	0	1	0	1	0	0	1	3	0	3	4	5	1	1	4	5	2	1	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.494C>T	p.Pro165Leu	p.P165L	ENST00000371974	5/9	301	211	90	291	291	0	strelka-varscan-mutect	SURF1,missense_variant,p.Pro165Leu,ENST00000371974,NM_003172.3;SURF1,missense_variant,p.Pro56Leu,ENST00000615505,NM_001280787.1;RPL7A,downstream_gene_variant,,ENST00000426651,;RPL7A,downstream_gene_variant,,ENST00000323345,NM_000972.2;SURF2,upstream_gene_variant,,ENST00000371964,NM_001278928.1,NM_017503.4;RPL7A,downstream_gene_variant,,ENST00000315731,;SNORD24,downstream_gene_variant,,ENST00000383884,;SNORD36B,downstream_gene_variant,,ENST00000363961,;SNORD36A,downstream_gene_variant,,ENST00000362874,;SNORD36C,downstream_gene_variant,,ENST00000516733,;SURF1,non_coding_transcript_exon_variant,,ENST00000495952,;RPL7A,downstream_gene_variant,,ENST00000463740,;RPL7A,downstream_gene_variant,,ENST00000489392,;RPL7A,downstream_gene_variant,,ENST00000496554,;RPL7A,downstream_gene_variant,,ENST00000468019,;RPL7A,downstream_gene_variant,,ENST00000485706,;SURF2,upstream_gene_variant,,ENST00000495524,;SURF1,downstream_gene_variant,,ENST00000463965,;RPL7A,downstream_gene_variant,,ENST00000492798,;SURF2,upstream_gene_variant,,ENST00000486887,;SURF1,non_coding_transcript_exon_variant,,ENST00000437995,;	A	ENST00000371974	Transcript	missense_variant	526/1093	494/903	165/300	P/L	cCc/cTc		1		-1	SURF1	HGNC	HGNC:11474	protein_coding	YES	CCDS6966.1	ENSP00000361042	Q15526	E5KRX5	UPI000013622E	NM_003172.3	deleterious(0)		5/9		Pfam_domain:PF02104,PROSITE_profiles:PS50895,hmmpanther:PTHR23427,hmmpanther:PTHR23427:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	133353770	133353770	G	A	1	0	0	0	0	1	0	0	0	15789	1232	43	3		3	SURF1	9	133353770	Missense_Mutation	SNP	G	C3L-00094_TP	10527121	133353770	5040947	116	3250											
IL2RA	0	.	GRCh38	chr10	6018115	6018115	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagcaggaaaacacagccGgccactgtcaatagagagag	16	4	11	10	1	2	2	2	0	0	2	2	4	2	3	2	2	3	1	2	2	4	1	rs779403244		C3L-00094_TP	C3L-00094_NB	G	G																c.732C>A	p.=	p.A244A	ENST00000379959	7/8	306	185	121	282	281	1	strelka-varscan-mutect	IL2RA,synonymous_variant,p.=,ENST00000379959,NM_000417.2;IL2RA,synonymous_variant,p.=,ENST00000379954,NM_001308242.1;IL2RA,synonymous_variant,p.=,ENST00000256876,;IL2RA,downstream_gene_variant,,ENST00000447847,;SNORA14,upstream_gene_variant,,ENST00000516113,;	T	ENST00000379959	Transcript	synonymous_variant	906/3176	732/819	244/272	A	gcC/gcA	rs779403244	1		-1	IL2RA	HGNC	HGNC:6008	protein_coding	YES	CCDS7076.1	ENSP00000369293	P01589		UPI000012D4A3	NM_000417.2			7/8		hmmpanther:PTHR10573,hmmpanther:PTHR10573:SF0,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs779403244	.												T	2	4	9	6018115	6018115	G	T	1	0	0	0	0	0	0	0	1	7585	1130	39	1		1	IL2RA	10	6018115	Silent	SNP	G	C3L-00094_TP		6018115	127779307	117	3251											
EBLN1	0	.	GRCh38	chr10	22209347	22209347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacgcaggggattcaaattCtccaaatagaaatgtgaaca	16	8	9	8	1	2	2	1	1	1	1	3	3	2	3	1	2	1	2	1	2	5	3	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.637G>A	p.Glu213Lys	p.E213K	ENST00000422359	1/1	223	200	23	258	258	0	strelka-mutect	EBLN1,missense_variant,p.Glu213Lys,ENST00000422359,NM_001199938.1;	T	ENST00000422359	Transcript	missense_variant	675/1208	637/1101	213/366	E/K	Gaa/Aaa		1		-1	EBLN1	HGNC	HGNC:39430	protein_coding	YES	CCDS60498.1	ENSP00000473842	P0CF75		UPI0000199CEF	NM_001199938.1	tolerated(0.24)		1/1		Pfam_domain:PF06407,Gene3D:1n93X01,Superfamily_domains:0041272																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	9	22209347	22209347	C	T	1	0	0	0	0	1	0	0	0	4709	922	32	3		3	EBLN1	10	22209347	Missense_Mutation	SNP	C	C3L-00094_TP	16191232	22209347	111588075	118	3252											
ARMC3	0	.	GRCh38	chr10	23003277	23003277	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgaagaagttaacgtaTcaggaactcggaaaaataaa	18	9	8	6	2	1	2	1	1	0	1	3	4	2	4	1	2	2	2	1	2	9	4	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.1594T>C	p.Ser532Pro	p.S532P	ENST00000298032	13/19	119	79	40	121	121	0	strelka-varscan-mutect	ARMC3,missense_variant,p.Ser269Pro,ENST00000376528,NM_001282747.1;ARMC3,missense_variant,p.Ser532Pro,ENST00000298032,NM_173081.4;ARMC3,missense_variant,p.Ser532Pro,ENST00000409983,NM_001282745.1;ARMC3,missense_variant,p.Ser532Pro,ENST00000409049,NM_001282746.1;ARMC3,upstream_gene_variant,,ENST00000491803,;	C	ENST00000298032	Transcript	missense_variant	1678/2811	1594/2619	532/872	S/P	Tca/Cca		1		1	ARMC3	HGNC	HGNC:30964	protein_coding	YES	CCDS7142.1	ENSP00000298032	Q5W041		UPI0000161785	NM_173081.4	deleterious(0.04)		13/19		hmmpanther:PTHR23315:SF78,hmmpanther:PTHR23315																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	9	23003277	23003277	T	C	1	0	0	0	0	1	0	0	0	1093	1435	50	5		5	ARMC3	10	23003277	Missense_Mutation	SNP	T	C3L-00094_TP	793930	23003277	110794145	119	3253											
ACBD5	0	.	GRCh38	chr10	27218124	27218124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccatctttatcatagcCattagtgacaatgacttcca	14	12	5	10	0	2	2	1	2	1	0	3	2	3	2	3	0	2	0	3	0	5	5	rs201245034		C3L-00094_TP	C3L-00094_NB	C	C																c.685G>T	p.Gly229Cys	p.G229C	ENST00000396271	7/13	332	228	104	315	315	0	strelka-varscan-mutect	ACBD5,missense_variant,p.Gly227Cys,ENST00000375897,NM_001271512.3;ACBD5,missense_variant,p.Gly229Cys,ENST00000396271,NM_145698.4;ACBD5,missense_variant,p.Gly194Cys,ENST00000375905,NM_001042473.3;ACBD5,missense_variant,p.Gly120Cys,ENST00000375901,NM_001301252.1,NM_001301253.1,NM_001301251.1,NM_001301254.1;ACBD5,missense_variant,p.Gly238Cys,ENST00000375888,;ACBD5,missense_variant,p.Gly205Cys,ENST00000426079,;ACBD5,missense_variant,p.Gly205Cys,ENST00000412279,;ACBD5,3_prime_UTR_variant,,ENST00000476758,;	A	ENST00000396271	Transcript	missense_variant	812/3921	685/1578	229/525	G/C	Ggc/Tgc	rs201245034	1		-1	ACBD5	HGNC	HGNC:23338	protein_coding	YES	CCDS44368.1	ENSP00000379568	Q5T8D3		UPI000046FE2B	NM_145698.4	deleterious(0)		7/13		hmmpanther:PTHR23310:SF6,hmmpanther:PTHR23310,PIRSF_domain:PIRSF002412																	MODERATE	1	SNV	1			1										PASS		rs201245034	.												A	3	1	9	27218124	27218124	C	A	1	0	0	0	0	1	0	0	0	168	594	21	2		2	ACBD5	10	27218124	Missense_Mutation	SNP	C	C3L-00094_TP	4214847	27218124	106579298	120	3254											
ZEB1	0	.	GRCh38	chr10	31520604	31520604	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtggcggtagatggtaaTgtaataaggcaagtgttgga	14	10	15	2	1	0	1	0	0	0	1	0	2	0	2	0	5	0	5	0	5	6	5	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.1272T>A	p.Asn424Lys	p.N424K	ENST00000361642	7/9	182	119	63	189	189	0	strelka-varscan-mutect	ZEB1,missense_variant,p.Asn407Lys,ENST00000446923,NM_001323656.1,NM_001323664.1,NM_001323657.1,NM_001323650.1,NM_001128128.2,NM_001174094.1;ZEB1,missense_variant,p.Asn424Lys,ENST00000361642,NM_001174096.1;ZEB1,missense_variant,p.Asn423Lys,ENST00000320985,NM_030751.5;ZEB1,missense_variant,p.Asn403Lys,ENST00000560721,NM_001174093.1;ZEB1,missense_variant,p.Asn356Lys,ENST00000542815,NM_001174095.1;ZEB1,missense_variant,p.Asn205Lys,ENST00000561212,;ZEB1,downstream_gene_variant,,ENST00000559476,;ZEB1,downstream_gene_variant,,ENST00000424869,;ZEB1,downstream_gene_variant,,ENST00000558440,;ZEB1,non_coding_transcript_exon_variant,,ENST00000559858,;ZEB1,3_prime_UTR_variant,,ENST00000437844,NM_001323663.1,NM_001323661.1,NM_001323644.1,NM_001323649.1,NM_001323659.1,NM_001323652.1,NM_001323673.1,NM_001323662.1,NM_001323676.1,NM_001323653.1,NM_001323655.1,NM_001323645.1,NM_001323647.1,NM_001323660.1,NM_001323671.1,NM_001323638.1,NM_001323665.1,NM_001323643.1,NM_001323677.1,NM_001323641.1,NM_001323642.1,NM_001323658.1,NM_001323651.1,NM_001323672.1,NM_001323654.1;ZEB1,non_coding_transcript_exon_variant,,ENST00000488625,;ZEB1,non_coding_transcript_exon_variant,,ENST00000542879,;ZEB1,non_coding_transcript_exon_variant,,ENST00000558655,;ZEB1,non_coding_transcript_exon_variant,,ENST00000558863,;	A	ENST00000361642	Transcript	missense_variant	1335/5990	1272/3378	424/1125	N/K	aaT/aaA		1		1	ZEB1	HGNC	HGNC:11642	protein_coding	YES	CCDS53505.1	ENSP00000354487	P37275		UPI000068F51D	NM_001174096.1	deleterious(0.01)		7/9		hmmpanther:PTHR24391,hmmpanther:PTHR24391:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	31520604	31520604	T	A	1	0	0	0	0	1	0	0	0	18199	1461	51	4		4	ZEB1	10	31520604	Missense_Mutation	SNP	T	C3L-00094_TP	4302480	31520604	102276818	121	3255											
C10orf71	0	.	GRCh38	chr10	49325843	49325843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaatcaagccagcccctggGccagctccagtcctgccagg	8	6	10	17	0	1	0	1	0	0	0	3	0	3	0	7	2	4	1	7	2	2	1	rs761308417		C3L-00094_TP	C3L-00094_NB	G	G																c.3298G>T	p.Ala1100Ser	p.A1100S	ENST00000374144	3/3	108	100	8	116	116	0	strelka-varscan-mutect	C10orf71,missense_variant,p.Ala1100Ser,ENST00000374144,NM_001135196.1;	T	ENST00000374144	Transcript	missense_variant	3586/5230	3298/4308	1100/1435	A/S	Gcc/Tcc	rs761308417	1		1	C10orf71	HGNC	HGNC:26973	protein_coding	YES	CCDS44387.1	ENSP00000363259	Q711Q0		UPI0000161572	NM_001135196.1	tolerated(0.1)		3/3		hmmpanther:PTHR33775																	MODERATE	1	SNV	1			1										PASS		rs761308417	.												T	3	4	9	49325843	49325843	G	T	1	0	0	0	0	1	0	0	0	1769	1203	42	2		2	C10orf71	10	49325843	Missense_Mutation	SNP	G	C3L-00094_TP	17805239	49325843	84471579	122	3256											
CTNNA3	0	.	GRCh38	chr10	66520745	66520745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcttgacttttgggtcttGcagccaaagcaagtgcagca	9	10	11	11	1	1	1	0	1	1	0	1	1	1	1	2	1	5	5	2	1	2	4	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1403C>A	p.Ala468Glu	p.A468E	ENST00000433211	11/18	275	175	100	338	338	0	strelka-varscan-mutect	CTNNA3,missense_variant,p.Ala468Glu,ENST00000433211,NM_001127384.2,NM_013266.3;	T	ENST00000433211	Transcript	missense_variant	1578/10675	1403/2688	468/895	A/E	gCa/gAa		1		-1	CTNNA3	HGNC	HGNC:2511	protein_coding	YES	CCDS7269.1	ENSP00000389714	Q9UI47		UPI000004A0E6	NM_001127384.2,NM_013266.3	deleterious(0.04)		11/18		hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF21,Gene3D:1.20.120.230,Pfam_domain:PF01044,Superfamily_domains:SSF47220																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	66520745	66520745	G	T	1	0	0	0	0	1	0	0	0	3823	1319	46	2		2	CTNNA3	10	66520745	Missense_Mutation	SNP	G	C3L-00094_TP	17194902	66520745	67276677	123	3257											
PBLD	0	.	GRCh38	chr10	68288630	68288630	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaacttgcagcagattctCcgtgttcactttcaggttct	7	16	7	11	1	5	1	3	0	2	1	6	1	5	1	1	1	3	4	1	1	1	6	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.544G>T	p.Glu182Ter	p.E182*	ENST00000358769	8/10	180	110	70	148	148	0	strelka-varscan-mutect	PBLD,stop_gained,p.Glu182Ter,ENST00000358769,NM_022129.3;PBLD,stop_gained,p.Glu149Ter,ENST00000336578,;PBLD,stop_gained,p.Glu182Ter,ENST00000309049,;PBLD,stop_gained,p.Glu182Ter,ENST00000495025,NM_001033083.1;PBLD,stop_gained,p.Glu23Ter,ENST00000468798,;PBLD,non_coding_transcript_exon_variant,,ENST00000277795,;	A	ENST00000358769	Transcript	stop_gained	747/2587	544/867	182/288	E/*	Gag/Tag		1		-1	PBLD	HGNC	HGNC:23301	protein_coding	YES	CCDS7277.2	ENSP00000351619	P30039	A0A024QZK5	UPI0000000DCA	NM_022129.3			8/10		hmmpanther:PTHR13774:SF17,hmmpanther:PTHR13774,PIRSF_domain:PIRSF016184,Pfam_domain:PF02567,Gene3D:3.10.310.10,TIGRFAM_domain:TIGR00654,Superfamily_domains:SSF54506																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	9	68288630	68288630	C	A	1	0	0	0	0	0	1	0	0	11576	864	30	2		2	PBLD	10	68288630	Nonsense_Mutation	SNP	C	C3L-00094_TP	1767885	68288630	65508792	124	3258											
C10orf62	0	.	GRCh38	chr10	97590427	97590427	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcgaggaggtagagatgaAgctgcaaaagaatttcctca	14	8	11	8	1	1	3	1	1	0	2	3	6	2	4	2	2	2	3	2	2	5	2	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.530A>T	p.Lys177Met	p.K177M	ENST00000370640	1/1	315	202	113	318	318	0	strelka-varscan-mutect	C10orf62,missense_variant,p.Lys177Met,ENST00000370640,NM_001009997.2;HOGA1,intron_variant,,ENST00000370646,NM_138413.3;HOGA1,intron_variant,,ENST00000370647,NM_001134670.1;RP11-548K23.11,intron_variant,,ENST00000370649,;HOGA1,intron_variant,,ENST00000465608,;	T	ENST00000370640	Transcript	missense_variant	701/1208	530/672	177/223	K/M	aAg/aTg		1		1	C10orf62	HGNC	HGNC:23294	protein_coding	YES	CCDS31261.1	ENSP00000359674	Q5T681		UPI000046FEE3	NM_001009997.2	deleterious(0)		1/1		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23008:SF0,hmmpanther:PTHR23008																	MODERATE		SNV				1										PASS		.	.												T	3	4	9	97590427	97590427	A	T	1	0	0	0	0	1	0	0	0	1767	72	3	4		4	C10orf62	10	97590427	Missense_Mutation	SNP	A	C3L-00094_TP	29301797	97590427	36206995	125	3259											
C10orf90	0	.	GRCh38	chr10	126504842	126504842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctttgggcggcagctctgCctcaggtcctcgctcatctg	3	12	11	15	2	5	0	2	0	3	0	7	0	6	0	2	3	2	3	2	3	0	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.358G>T	p.Ala120Ser	p.A120S	ENST00000284694	3/9	44	40	4	52	52	0	strelka-mutect	C10orf90,missense_variant,p.Ala120Ser,ENST00000284694,NM_001004298.2;C10orf90,missense_variant,p.Ala73Ser,ENST00000356858,;C10orf90,missense_variant,p.Ala120Ser,ENST00000432642,;C10orf90,missense_variant,p.Ala73Ser,ENST00000488181,;C10orf90,upstream_gene_variant,,ENST00000424927,;C10orf90,non_coding_transcript_exon_variant,,ENST00000368674,;C10orf90,downstream_gene_variant,,ENST00000463082,;	A	ENST00000284694	Transcript	missense_variant	479/3076	358/2100	120/699	A/S	Gca/Tca		1		-1	C10orf90	HGNC	HGNC:26563	protein_coding	YES	CCDS31310.1	ENSP00000284694	Q96M02		UPI00001D808F	NM_001004298.2	tolerated(0.46)		3/9		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	126504842	126504842	C	A	1	0	0	0	0	1	0	0	0	1773	739	26	2		2	C10orf90	10	126504842	Missense_Mutation	SNP	C	C3L-00094_TP	28914415	126504842	7292580	126	3260											
FRG2B	0	.	GRCh38	chr10	133626598	133626598	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttctcactggaatgggAgaaggcggtcttgccttttt	6	14	13	8	1	2	1	1	0	2	1	3	3	2	2	1	4	2	1	1	4	2	4	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.145T>A	p.Ser49Thr	p.S49T	ENST00000425520	1/4	267	252	15	287	287	0	varscan-mutect	FRG2B,missense_variant,p.Ser49Thr,ENST00000443774,;FRG2B,missense_variant,p.Ser49Thr,ENST00000425520,NM_001080998.1;	T	ENST00000425520	Transcript	missense_variant	198/890	145/837	49/278	S/T	Tcc/Acc		1		-1	FRG2B	HGNC	HGNC:33518	protein_coding	YES	CCDS44502.1	ENSP00000401310	Q96QU4		UPI00000727C6	NM_001080998.1	deleterious(0.02)		1/4		hmmpanther:PTHR31883,hmmpanther:PTHR31883:SF3,Prints_domain:PR02074																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	133626598	133626598	A	T	1	0	0	0	0	1	0	0	0	5916	304	11	4		4	FRG2B	10	133626598	Missense_Mutation	SNP	A	C3L-00094_TP	7121756	133626598	170824	127	3261											
CDHR5	0	.	GRCh38	chr11	624841	624841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgggccatggtccccGggggtcggacgagcagcccg	4	4	19	14	4	0	0	0	0	0	0	2	2	1	1	5	6	2	1	5	6	0	0	rs200807618		C3L-00094_TP	C3L-00094_NB	G	G																c.62C>A	p.Pro21Gln	p.P21Q	ENST00000358353	2/16	119	82	37	95	95	0	strelka-varscan-mutect	CDHR5,missense_variant,p.Pro21Gln,ENST00000358353,;CDHR5,missense_variant,p.Pro21Gln,ENST00000397542,NM_001171968.1,NM_021924.4;CDHR5,missense_variant,p.Pro21Gln,ENST00000349570,NM_031264.3;CDHR5,missense_variant,p.Pro21Gln,ENST00000526077,;CDHR5,missense_variant,p.Pro21Gln,ENST00000534311,;CDHR5,intron_variant,,ENST00000531088,;SCT,downstream_gene_variant,,ENST00000176195,NM_021920.2;CDHR5,intron_variant,,ENST00000529337,;CDHR5,upstream_gene_variant,,ENST00000532949,;CDHR5,missense_variant,p.Pro21Gln,ENST00000531177,;CDHR5,non_coding_transcript_exon_variant,,ENST00000531899,;	T	ENST00000358353	Transcript	missense_variant	385/3635	62/2538	21/845	P/Q	cCg/cAg	rs200807618	1		-1	CDHR5	HGNC	HGNC:7521	protein_coding	YES	CCDS7707.1	ENSP00000351118	Q9HBB8		UPI0000456444		tolerated(0.06)		2/16		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24027:SF313,hmmpanther:PTHR24027																	MODERATE		SNV	5			1										PASS		rs200807618	.												T	3	4	9	624841	624841	G	T	1	0	0	0	0	1	0	0	0	2825	1116	39	1		1	CDHR5	11	624841	Missense_Mutation	SNP	G	C3L-00094_TP		624841	134461781	128	3262											
NUP98	0	.	GRCh38	chr11	3776016	3776016	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgctagtactggttcCaaaatctaaaaataagaaag	17	10	6	8	0	1	1	0	0	1	1	3	1	3	1	2	1	2	3	2	1	9	5	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.361G>T	p.Gly121Ter	p.G121*	ENST00000324932	5/33	111	75	36	97	97	0	strelka-varscan-mutect	NUP98,stop_gained,p.Gly121Ter,ENST00000359171,;NUP98,stop_gained,p.Gly121Ter,ENST00000324932,NM_016320.4;NUP98,stop_gained,p.Gly121Ter,ENST00000355260,NM_139132.3;NUP98,stop_gained,p.Gly121Ter,ENST00000397004,NM_139131.3;NUP98,stop_gained,p.Gly121Ter,ENST00000397007,NM_005387.5;NUP98,stop_gained,p.Gly84Ter,ENST00000532475,;	A	ENST00000324932	Transcript	stop_gained	782/6973	361/5403	121/1800	G/*	Gga/Tga		1		-1	NUP98	HGNC	HGNC:8068	protein_coding	YES	CCDS7746.1	ENSP00000316032	P52948		UPI000013CD36	NM_016320.4			5/33		Low_complexity_(Seg):seg,hmmpanther:PTHR23198,hmmpanther:PTHR23198:SF6																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	9	3776016	3776016	C	A	1	0	0	0	0	0	1	0	0	10839	608	21	2		2	NUP98	11	3776016	Nonsense_Mutation	SNP	C	C3L-00094_TP	3151175	3776016	131310606	129	3263											
MMP26	0	.	GRCh38	chr11	4992012	4992012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagattgggcattctttggGcctgcagcactctgggaatc	7	12	13	9	0	2	1	0	1	2	1	3	3	2	2	1	3	2	3	1	3	1	3	rs758222762		C3L-00094_TP	C3L-00094_NB	G	G																c.644G>T	p.Gly215Val	p.G215V	ENST00000380390	6/7	130	102	28	129	129	0	strelka-varscan-mutect	MMP26,missense_variant,p.Gly215Val,ENST00000380390,;MMP26,missense_variant,p.Gly215Val,ENST00000300762,NM_021801.3;MMP26,downstream_gene_variant,,ENST00000477339,;	T	ENST00000380390	Transcript	missense_variant	860/1189	644/786	215/261	G/V	gGc/gTc	rs758222762	1		1	MMP26	HGNC	HGNC:14249	protein_coding	YES	CCDS7752.1	ENSP00000369753	Q9NRE1		UPI0000047AFC		deleterious(0)		6/7		hmmpanther:PTHR10201:SF76,hmmpanther:PTHR10201,Pfam_domain:PF00413,Gene3D:3.40.390.10,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138																	MODERATE	1	SNV	5			1										PASS		rs758222762	.												T	3	4	9	4992012	4992012	G	T	1	0	0	0	0	1	0	0	0	9626	1203	42	2		2	MMP26	11	4992012	Missense_Mutation	SNP	G	C3L-00094_TP	1215996	4992012	130094610	130	3264											
OR52E2	0	.	GRCh38	chr11	5059405	5059405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatggtagctgttgagaGacccacatcagtggtggcca	10	8	15	8	0	1	2	1	1	0	1	1	4	1	3	2	4	1	3	2	4	1	2	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.223C>A	p.Leu75Ile	p.L75I	ENST00000321522	1/1	103	77	26	79	79	0	strelka-varscan-mutect	OR52E2,missense_variant,p.Leu75Ile,ENST00000321522,NM_001005164.2;	T	ENST00000321522	Transcript	missense_variant	223/978	223/978	75/325	L/I	Ctc/Atc		1		-1	OR52E2	HGNC	HGNC:14769	protein_coding	YES	CCDS31371.1	ENSP00000322088	Q8NGJ4		UPI0000046AE3	NM_001005164.2	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF169,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	9	5059405	5059405	G	T	1	0	0	0	0	1	0	0	0	11187	942	33	2		2	OR52E2	11	5059405	Missense_Mutation	SNP	G	C3L-00094_TP	67393	5059405	130027217	131	3265											
OR51J1	0	.	GRCh38	chr11	5402930	5402930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccatccattctttatcCatgatggagccagctgtgct	7	15	7	12	0	2	1	0	1	2	0	5	2	4	2	4	1	3	2	4	1	1	4	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.334C>A	p.His112Asn	p.H112N	ENST00000332043	1/1	285	234	51	294	293	1	strelka-varscan-mutect	OR51J1,missense_variant,p.His112Asn,ENST00000332043,;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	A	ENST00000332043	Transcript	missense_variant	334/951	334/951	112/316	H/N	Cat/Aat		1		1	OR51J1	HGNC	HGNC:14856	protein_coding	YES		ENSP00000332473	Q9H342		UPI00001AFFE3		deleterious(0.01)		1/1		Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF81																	MODERATE		SNV				1										PASS		rs1198338973	.												A	3	1	9	5402930	5402930	C	A	1	0	0	0	0	1	0	0	0	11175	594	21	2		2	OR51J1	11	5402930	Missense_Mutation	SNP	C	C3L-00094_TP	343525	5402930	129683692	132	3266											
UBQLN3	0	.	GRCh38	chr11	5507676	5507676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattggcttcacgattcagaAagcccatggaccgcagttgc	10	9	11	11	2	2	1	2	0	0	1	2	4	2	2	2	2	2	3	2	2	1	4	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.1883T>C	p.Phe628Ser	p.F628S	ENST00000311659	2/2	147	138	9	133	133	0	strelka-varscan-mutect	UBQLN3,missense_variant,p.Phe628Ser,ENST00000311659,NM_017481.2;HBG2,intron_variant,,ENST00000380259,;HBE1,upstream_gene_variant,,ENST00000380237,;UBQLN3,downstream_gene_variant,,ENST00000445998,;HBG2,upstream_gene_variant,,ENST00000380252,;HBE1,upstream_gene_variant,,ENST00000396895,;AC104389.28,upstream_gene_variant,,ENST00000415970,;AC104389.28,upstream_gene_variant,,ENST00000418729,;AC104389.28,upstream_gene_variant,,ENST00000420465,;AC104389.28,upstream_gene_variant,,ENST00000420726,;	G	ENST00000311659	Transcript	missense_variant	2031/2407	1883/1968	628/655	F/S	tTt/tCt		1		-1	UBQLN3	HGNC	HGNC:12510	protein_coding	YES	CCDS7758.1	ENSP00000347997	Q9H347	A0A140VJZ3	UPI000006E3A0	NM_017481.2	deleterious(0)		2/2		PROSITE_profiles:PS50030,hmmpanther:PTHR10677:SF4,hmmpanther:PTHR10677,Gene3D:1.10.8.10,Pfam_domain:PF00627,SMART_domains:SM00165,Superfamily_domains:SSF46934																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	9	5507676	5507676	A	G	1	0	0	0	0	1	0	0	0	17422	14	1	5		5	UBQLN3	11	5507676	Missense_Mutation	SNP	A	C3L-00094_TP	104746	5507676	129578946	133	3267											
CNGA4	0	.	GRCh38	chr11	6240443	6240443	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgagcgcctgcggcgcCagtacctctatagcttttac	6	12	10	13	3	1	1	0	1	1	0	1	1	1	1	3	1	5	3	3	1	4	6	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.649C>G	p.Gln217Glu	p.Q217E	ENST00000379936	4/6	277	206	71	282	282	0	strelka-varscan-mutect	CNGA4,missense_variant,p.Gln217Glu,ENST00000379936,NM_001037329.3;CNGA4,intron_variant,,ENST00000533426,;	G	ENST00000379936	Transcript	missense_variant	764/1863	649/1728	217/575	Q/E	Cag/Gag		1		1	CNGA4	HGNC	HGNC:2152	protein_coding	YES	CCDS31408.1	ENSP00000369268	Q8IV77		UPI000004C7EC	NM_001037329.3	tolerated(0.2)		4/6		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF388,Superfamily_domains:SSF81324																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	9	6240443	6240443	C	G	1	0	0	0	0	1	0	0	0	3379	595	21	4		4	CNGA4	11	6240443	Missense_Mutation	SNP	C	C3L-00094_TP	732767	6240443	128846179	134	3268											
TSG101	0	.	GRCh38	chr11	18481656	18481656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacatccaggtctatcaCgccccttctcaaggcttctc	9	10	7	15	1	4	1	2	0	3	1	7	2	5	1	3	2	0	1	3	2	3	3	rs770747339		C3L-00094_TP	C3L-00094_NB	C	C																c.1057G>T	p.Val353Leu	p.V353L	ENST00000251968	9/10	199	164	35	179	179	0	strelka-varscan-mutect	TSG101,missense_variant,p.Val353Leu,ENST00000536719,;TSG101,missense_variant,p.Val353Leu,ENST00000251968,NM_006292.3;LDHAL6A,downstream_gene_variant,,ENST00000280706,NM_144972.4;LDHAL6A,downstream_gene_variant,,ENST00000396213,NM_001144071.1;LDHAL6A,downstream_gene_variant,,ENST00000615355,;TSG101,missense_variant,p.Val40Leu,ENST00000584526,;TSG101,missense_variant,p.Val26Leu,ENST00000580814,;TSG101,non_coding_transcript_exon_variant,,ENST00000540555,;TSG101,downstream_gene_variant,,ENST00000545247,;TSG101,downstream_gene_variant,,ENST00000543054,;	A	ENST00000251968	Transcript	missense_variant	1473/1824	1057/1173	353/390	V/L	Gtg/Ttg	rs770747339,COSM147157	1		-1	TSG101	HGNC	HGNC:15971	protein_coding	YES	CCDS7842.1	ENSP00000251968	Q99816		UPI000004750C	NM_006292.3	deleterious(0.01)		9/10		Pfam_domain:PF09454,PROSITE_profiles:PS51312,hmmpanther:PTHR23306,hmmpanther:PTHR23306:SF17,Superfamily_domains:SSF140111											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs770747339	.												A	3	1	9	18481656	18481656	C	A	1	0	0	0	0	1	0	0	0	17122	536	19	1		1	TSG101	11	18481656	Missense_Mutation	SNP	C	C3L-00094_TP	12241213	18481656	116604966	135	3269											
DGKZ	0	.	GRCh38	chr11	46372659	46372659	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaacctgcggatcctggcGtgcgggggcgacggcacggt	6	5	17	13	6	0	0	0	0	0	0	1	2	1	1	2	6	3	1	2	6	1	0	rs115107241		C3L-00094_TP	C3L-00094_NB	G	G																c.1617G>T	p.=	p.A539A	ENST00000454345	13/32	147	120	27	158	158	0	strelka-varscan-mutect	DGKZ,synonymous_variant,p.=,ENST00000454345,NM_001105540.1;DGKZ,synonymous_variant,p.=,ENST00000343674,NM_201532.2;DGKZ,synonymous_variant,p.=,ENST00000456247,NM_001199267.1;DGKZ,synonymous_variant,p.=,ENST00000527911,NM_001199266.1;DGKZ,synonymous_variant,p.=,ENST00000318201,NM_001199268.1;DGKZ,synonymous_variant,p.=,ENST00000532868,NM_201533.3;DGKZ,synonymous_variant,p.=,ENST00000421244,NM_003646.3;DGKZ,synonymous_variant,p.=,ENST00000528615,;DGKZ,upstream_gene_variant,,ENST00000524869,;DGKZ,downstream_gene_variant,,ENST00000525242,;DGKZ,downstream_gene_variant,,ENST00000524448,;MIR4688,upstream_gene_variant,,ENST00000577966,;DGKZ,downstream_gene_variant,,ENST00000534215,;DGKZ,upstream_gene_variant,,ENST00000529660,;DGKZ,3_prime_UTR_variant,,ENST00000524984,;DGKZ,non_coding_transcript_exon_variant,,ENST00000528173,;DGKZ,non_coding_transcript_exon_variant,,ENST00000531879,;DGKZ,non_coding_transcript_exon_variant,,ENST00000527903,;DGKZ,upstream_gene_variant,,ENST00000527211,;DGKZ,downstream_gene_variant,,ENST00000527674,;DGKZ,upstream_gene_variant,,ENST00000529698,;DGKZ,downstream_gene_variant,,ENST00000533376,;	T	ENST00000454345	Transcript	synonymous_variant	1742/4086	1617/3354	539/1117	A	gcG/gcT	rs115107241	1		1	DGKZ	HGNC	HGNC:2857	protein_coding	YES	CCDS41640.1	ENSP00000412178	Q13574		UPI000013DB71	NM_001105540.1			13/32		Pfam_domain:PF00781,PROSITE_profiles:PS50146,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF43,SMART_domains:SM00046,Superfamily_domains:SSF111331																	LOW	1	SNV	1			1										PASS		rs115107241	.												T	2	4	9	46372659	46372659	G	T	1	0	0	0	0	0	0	0	1	4280	1132	40	1		1	DGKZ	11	46372659	Silent	SNP	G	C3L-00094_TP	27891003	46372659	88713963	136	3270											
TPCN2	0	.	GRCh38	chr11	69054090	69054090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtcttcatcgaagatgCtattcaggtcggtggcacct	7	13	12	9	2	3	1	2	0	1	1	5	2	3	1	1	4	1	2	1	4	2	3	rs144833208		C3L-00094_TP	C3L-00094_NB	C	C																c.167C>T	p.Ala56Val	p.A56V	ENST00000294309	2/25	206	186	20	165	165	0	strelka-varscan-mutect	TPCN2,missense_variant,p.Ala56Val,ENST00000294309,NM_139075.3;TPCN2,missense_variant,p.Ala56Val,ENST00000637342,;TPCN2,missense_variant,p.Ala56Val,ENST00000637504,;TPCN2,missense_variant,p.Ala56Val,ENST00000542467,;TPCN2,non_coding_transcript_exon_variant,,ENST00000534832,;TPCN2,upstream_gene_variant,,ENST00000442692,;TPCN2,missense_variant,p.Ala56Val,ENST00000635811,;TPCN2,non_coding_transcript_exon_variant,,ENST00000535009,;	T	ENST00000294309	Transcript	missense_variant	268/2931	167/2259	56/752	A/V	gCt/gTt	rs144833208	1		1	TPCN2	HGNC	HGNC:20820	protein_coding	YES	CCDS8189.1	ENSP00000294309	Q8NHX9		UPI000013E149	NM_139075.3	deleterious(0)		2/25		hmmpanther:PTHR10037																	MODERATE	1	SNV	1			1										PASS		rs144833208	.												T	3	4	9	69054090	69054090	C	T	1	0	0	0	0	1	0	0	0	16875	797	28	3		3	TPCN2	11	69054090	Missense_Mutation	SNP	C	C3L-00094_TP	22681431	69054090	66032532	137	3271											
FAT3	0	.	GRCh38	chr11	92353320	92353320	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagtaaaattaagtcctgAaccgatagatgtggaataca	17	11	8	5	1	0	2	0	1	0	1	1	4	1	3	2	1	2	1	2	1	9	6	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.758A>C	p.Glu253Ala	p.E253A	ENST00000525166	1/27	228	168	60	237	237	0	strelka-varscan-mutect	FAT3,missense_variant,p.Glu403Ala,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Glu253Ala,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000528921,;	C	ENST00000525166	Transcript	missense_variant	780/18699	758/13320	253/4439	E/A	gAa/gCa		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		tolerated(0.8)		1/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	9	92353320	92353320	A	C	1	0	0	0	0	1	0	0	0	5551	246	9	5		5	FAT3	11	92353320	Missense_Mutation	SNP	A	C3L-00094_TP	23299230	92353320	42733302	138	3272											
AMOTL1	0	.	GRCh38	chr11	94768531	94768531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtggagggcaaagttgcGccggggaacttgtgagcctg	8	8	17	8	2	0	1	0	1	0	0	0	3	0	3	2	4	3	2	2	4	2	2	rs373449240		C3L-00094_TP	C3L-00094_NB	G	G																c.20G>C	p.Arg7Pro	p.R7P	ENST00000433060	1/13	264	225	39	250	250	0	strelka-varscan-mutect	AMOTL1,missense_variant,p.Arg7Pro,ENST00000433060,NM_130847.2;AMOTL1,missense_variant,p.Arg7Pro,ENST00000317829,NM_001301007.1;AMOTL1,intron_variant,,ENST00000299004,;	C	ENST00000433060	Transcript	missense_variant	161/8970	20/2871	7/956	R/P	cGc/cCc	rs373449240	1		1	AMOTL1	HGNC	HGNC:17811	protein_coding	YES	CCDS44712.1	ENSP00000387739	Q8IY63	A0A024R3A6	UPI00000742C2	NM_130847.2	tolerated_low_confidence(0.15)		1/13																			MODERATE	1	SNV	1			1										PASS		rs373449240	.												C	3	2	9	94768531	94768531	G	C	1	0	0	0	0	1	0	0	0	681	1087	38	4		4	AMOTL1	11	94768531	Missense_Mutation	SNP	G	C3L-00094_TP	2415211	94768531	40318091	139	3273											
PZP	0	.	GRCh38	chr12	9182060	9182060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatggcaaagatgaacattCgtgcaatgggggcaacgtct	14	8	12	7	2	1	2	0	1	1	1	2	2	1	2	0	3	3	3	0	3	5	1	rs183830886		C3L-00094_TP	C3L-00094_NB	C	C																c.1604G>A	p.Arg535Gln	p.R535Q	ENST00000261336	14/36	158	149	9	162	162	0	strelka-varscan-mutect	PZP,missense_variant,p.Arg535Gln,ENST00000261336,NM_002864.2;PZP,3_prime_UTR_variant,,ENST00000535230,;	T	ENST00000261336	Transcript	missense_variant	1633/4610	1604/4449	535/1482	R/Q	cGa/cAa	rs183830886,COSM4529352,COSM4529353	1		-1	PZP	HGNC	HGNC:9750	protein_coding	YES	CCDS8600.1	ENSP00000261336	P20742		UPI000013D168	NM_002864.2	tolerated(0.72)		14/36		Pfam_domain:PF07703,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF92,SMART_domains:SM01359											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs183830886	.												T	3	4	9	9182060	9182060	C	T	1	0	0	0	0	1	0	0	0	13025	884	31	1		1	PZP	12	9182060	Missense_Mutation	SNP	C	C3L-00094_TP		9182060	124093249	140	3274											
GRIN2B	0	.	GRCh38	chr12	13866188	13866188	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccagaacttgggagaacaGcactccgctctgggcttcat	11	8	10	12	1	2	2	1	0	1	2	3	3	3	2	2	2	4	3	2	2	3	2	rs751673148		C3L-00094_TP	C3L-00094_NB	G	G																c.21C>A	p.Cys7Ter	p.C7*	ENST00000609686	2/13	231	211	20	216	215	1	strelka-varscan-mutect	GRIN2B,stop_gained,p.Cys7Ter,ENST00000609686,NM_000834.3;GRIN2B,stop_gained,p.Cys7Ter,ENST00000630791,;GRIN2B,stop_gained,p.Cys7Ter,ENST00000627535,;	T	ENST00000609686	Transcript	stop_gained	475/30355	21/4455	7/1484	C/*	tgC/tgA	rs751673148	1		-1	GRIN2B	HGNC	HGNC:4586	protein_coding	YES	CCDS8662.1	ENSP00000477455	Q13224		UPI000013026C	NM_000834.3			2/13		Cleavage_site_(Signalp):SignalP-noTM																	HIGH	1	SNV	1			1										PASS		rs751673148	.												T	4	4	9	13866188	13866188	G	T	1	0	0	0	0	0	1	0	0	6662	963	34	2		2	GRIN2B	12	13866188	Nonsense_Mutation	SNP	G	C3L-00094_TP	4684128	13866188	119409121	141	3275											
RP11-545J16.1	0	.	GRCh38	chr12	20880919	20880919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaactcagagtgcaattgtGatgaaagtcagtgggaacca	14	8	12	7	0	2	3	2	2	0	1	2	4	2	4	1	1	3	2	1	1	4	1	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1396G>A	p.Asp466Asn	p.D466N	ENST00000261196	10/14	135	108	27	144	143	1	strelka-mutect	SLCO1B3,missense_variant,p.Asp466Asn,ENST00000261196,;SLCO1B3,missense_variant,p.Asp466Asn,ENST00000381545,NM_019844.3;RP11-545J16.1,missense_variant,p.Asp466Asn,ENST00000540229,;SLCO1B3,missense_variant,p.Asp290Asn,ENST00000544370,;RP11-545J16.1,intron_variant,,ENST00000381541,;	A	ENST00000261196	Transcript	missense_variant	1463/2840	1396/2109	466/702	D/N	Gat/Aat		1		1	SLCO1B3	HGNC	HGNC:10961	protein_coding	YES	CCDS8684.1	ENSP00000261196	Q9NPD5		UPI000013544A		tolerated(0.1)		10/14		PROSITE_profiles:PS50850,PROSITE_profiles:PS51465,hmmpanther:PTHR11388:SF89,hmmpanther:PTHR11388,TIGRFAM_domain:TIGR00805,Pfam_domain:PF07648,Pfam_domain:PF03137,Gene3D:3.30.60.30,Superfamily_domains:SSF100895																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	20880919	20880919	G	A	1	0	0	0	0	1	0	0	0	13751	1290	45	3		3	RP11-545J16.1	12	20880919	Missense_Mutation	SNP	G	C3L-00094_TP	7014731	20880919	112394390	142	3276											
KRAS	0	.	GRCh38	chr12	25245350	25245350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		C3L-00094_TP	C3L-00094_NB	C	C																c.35G>A	p.Gly12Asp	p.G12D	ENST00000256078	2/6	327	219	108	350	347	3	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Asp,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Asp,ENST00000556131,;KRAS,missense_variant,p.Gly12Asp,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Asp,ENST00000557334,;	T	ENST00000256078	Transcript	missense_variant	99/1119	35/570	12/189	G/D	gGt/gAt	rs121913529,CM087372,COSM1135366,COSM1140133,COSM1140134,COSM12657,COSM49168,COSM520,COSM521,COSM522	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,0,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1,1,1	1										PASS		rs121913529	.												T	3	4	9	25245350	25245350	C	T	1	0	0	0	0	1	0	0	0	8318	507	18	3		3	KRAS	12	25245350	Missense_Mutation	SNP	C	C3L-00094_TP	4364431	25245350	108029959	143	3277											
SLC4A8	0	.	GRCh38	chr12	51425014	51425014	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgggagtaacgagccGgacggcgtcctcagctatca	8	5	14	14	6	2	0	2	0	0	0	3	3	3	2	4	3	3	2	4	3	2	2	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.27G>T	p.=	p.P9P	ENST00000453097	1/25	137	88	49	115	115	0	strelka-varscan-mutect	SLC4A8,synonymous_variant,p.=,ENST00000453097,NM_001039960.2;SLC4A8,intron_variant,,ENST00000358657,NM_001258401.2;SLC4A8,intron_variant,,ENST00000535225,NM_001267615.1,NM_001258402.1;SLC4A8,upstream_gene_variant,,ENST00000514353,NM_001258403.1;RP11-607P23.1,upstream_gene_variant,,ENST00000604939,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000548811,;SLC4A8,intron_variant,,ENST00000548352,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000319957,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000546497,;SLC4A8,intron_variant,,ENST00000604314,;SLC4A8,intron_variant,,ENST00000547697,;	T	ENST00000453097	Transcript	synonymous_variant	244/11824	27/3282	9/1093	P	ccG/ccT		1		1	SLC4A8	HGNC	HGNC:11034	protein_coding	YES	CCDS44890.1	ENSP00000405812	Q2Y0W8		UPI00005E6FB4	NM_001039960.2			1/25																			LOW	1	SNV	1			1										PASS		rs1433110698	.												T	2	4	9	51425014	51425014	G	T	1	0	0	0	0	0	0	0	1	14936	1103	39	1		1	SLC4A8	12	51425014	Silent	SNP	G	C3L-00094_TP	26179664	51425014	81850295	144	3278											
AVPR1A	0	.	GRCh38	chr12	63150484	63150484	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagccagtcggggccgCggaagcggtaggtgatgtcc	7	5	18	11	4	0	1	0	1	0	0	2	2	1	2	3	6	2	2	3	6	2	1			C3L-00094_TP	C3L-00094_NB	C	C																c.353G>C	p.Arg118Pro	p.R118P	ENST00000299178	1/2	213	140	73	212	212	0	strelka-varscan-mutect	AVPR1A,missense_variant,p.Arg118Pro,ENST00000299178,NM_000706.4;AVPR1A,upstream_gene_variant,,ENST00000550940,;RP11-715H19.2,upstream_gene_variant,,ENST00000624438,;	G	ENST00000299178	Transcript	missense_variant	459/5963	353/1257	118/418	R/P	cGc/cCc	COSM4832222	1		-1	AVPR1A	HGNC	HGNC:895	protein_coding	YES	CCDS8965.1	ENSP00000299178	P37288	X5D2B0	UPI0000050439	NM_000706.4	tolerated(0.07)		1/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF17,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00896											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	9	63150484	63150484	C	G	1	0	0	0	0	1	0	0	0	1387	768	27	4		4	AVPR1A	12	63150484	Missense_Mutation	SNP	C	C3L-00094_TP	11725470	63150484	70124825	145	3279											
PPFIA2	0	.	GRCh38	chr12	81263311	81263311	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttctgaggacccaggcAtcatgctgattccatgtact	9	13	9	10	0	2	2	1	2	1	0	3	3	3	3	2	2	2	4	2	2	1	3	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.3635T>A	p.Met1212Lys	p.M1212K	ENST00000549396	31/33	212	181	31	186	186	0	strelka-varscan-mutect	PPFIA2,missense_variant,p.Met1107Lys,ENST00000333447,NM_001220478.2;PPFIA2,missense_variant,p.Met1212Lys,ENST00000550584,NM_001220473.2;PPFIA2,missense_variant,p.Met1212Lys,ENST00000549396,NM_003625.4;PPFIA2,missense_variant,p.Met1197Lys,ENST00000549325,NM_001220474.2;PPFIA2,missense_variant,p.Met398Lys,ENST00000541017,NM_001220480.2;PPFIA2,missense_variant,p.Met1206Lys,ENST00000548586,NM_001220476.2;PPFIA2,missense_variant,p.Met1191Lys,ENST00000552948,NM_001220475.2;PPFIA2,missense_variant,p.Met1111Lys,ENST00000407050,NM_001220477.2;PPFIA2,missense_variant,p.Met1059Lys,ENST00000550359,NM_001282536.1;PPFIA2,missense_variant,p.Met1107Lys,ENST00000443686,;PPFIA2,missense_variant,p.Met748Lys,ENST00000541570,NM_001220479.2;ACSS3,downstream_gene_variant,,ENST00000548058,NM_024560.2;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,3_prime_UTR_variant,,ENST00000551461,;	T	ENST00000549396	Transcript	missense_variant	3796/5363	3635/3774	1212/1257	M/K	aTg/aAg		1		-1	PPFIA2	HGNC	HGNC:9246	protein_coding	YES	CCDS55857.1	ENSP00000450337	O75334		UPI0000168655	NM_003625.4	deleterious_low_confidence(0)		31/33		hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	81263311	81263311	A	T	1	0	0	0	0	1	0	0	0	12419	217	8	4		4	PPFIA2	12	81263311	Missense_Mutation	SNP	A	C3L-00094_TP	18112827	81263311	52011998	146	3280											
SCYL2	0	.	GRCh38	chr12	100282995	100282995	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccatgcttaataaattgAagagtactgttacaaaagta	17	12	7	5	0	0	2	0	1	0	1	1	2	1	2	1	0	3	4	1	0	9	6	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.25A>T	p.Lys9Ter	p.K9*	ENST00000360820	2/18	79	56	23	58	58	0	strelka-varscan-mutect	SCYL2,stop_gained,p.Lys9Ter,ENST00000360820,NM_001317784.1,NM_017988.4;SCYL2,stop_gained,p.Lys9Ter,ENST00000635101,;SCYL2,stop_gained,p.Lys9Ter,ENST00000549687,;SCYL2,intron_variant,,ENST00000548392,;SCYL2,non_coding_transcript_exon_variant,,ENST00000550067,;SCYL2,upstream_gene_variant,,ENST00000549486,;	T	ENST00000360820	Transcript	stop_gained	462/5779	25/2790	9/929	K/*	Aag/Tag		1		1	SCYL2	HGNC	HGNC:19286	protein_coding	YES	CCDS9076.1	ENSP00000354061	Q6P3W7		UPI000004FD59	NM_001317784.1,NM_017988.4			2/18		hmmpanther:PTHR12984:SF6,hmmpanther:PTHR12984																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	9	100282995	100282995	A	T	1	0	0	0	0	0	1	0	0	14220	247	9	4		4	SCYL2	12	100282995	Nonsense_Mutation	SNP	A	C3L-00094_TP	19019684	100282995	32992314	147	3281											
ANAPC7	0	.	GRCh38	chr12	110386437	110386437	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttcccaataggtccacgTtatctcgcaataaggatttt	11	13	7	10	2	1	0	0	0	1	0	4	1	3	1	2	2	1	3	2	2	5	6	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.809A>T	p.Asn270Ile	p.N270I	ENST00000455511	6/11	230	153	77	245	245	0	strelka-varscan-mutect	ANAPC7,missense_variant,p.Asn270Ile,ENST00000455511,NM_016238.2;ANAPC7,missense_variant,p.Asn270Ile,ENST00000450008,NM_001137664.1;ANAPC7,upstream_gene_variant,,ENST00000552087,;ANAPC7,non_coding_transcript_exon_variant,,ENST00000546720,;ANAPC7,3_prime_UTR_variant,,ENST00000552170,;ANAPC7,non_coding_transcript_exon_variant,,ENST00000548234,;RP11-478C19.2,downstream_gene_variant,,ENST00000550231,;ANAPC7,upstream_gene_variant,,ENST00000471602,;ANAPC7,downstream_gene_variant,,ENST00000464697,;	A	ENST00000455511	Transcript	missense_variant	810/3045	809/1800	270/599	N/I	aAc/aTc		1		-1	ANAPC7	HGNC	HGNC:17380	protein_coding	YES	CCDS9145.2	ENSP00000394394	Q9UJX3	A0A024RBJ3	UPI0000EE28AF	NM_016238.2	deleterious(0)		6/11		hmmpanther:PTHR12558,hmmpanther:PTHR12558:SF8,Gene3D:1.25.40.10																	MODERATE	1	SNV	1			1										PASS		rs1237018261	.												A	3	1	9	110386437	110386437	T	A	1	0	0	0	0	1	0	0	0	704	1725	60	4		4	ANAPC7	12	110386437	Missense_Mutation	SNP	T	C3L-00094_TP	10103442	110386437	22888872	148	3282											
PXN	0	.	GRCh38	chr12	120212390	120212390	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtgcccttgttgagcTgcttgaggcagaaggcacag	9	9	15	8	0	0	4	0	3	0	1	0	4	0	4	1	3	3	5	1	3	2	3	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.1742A>C	p.Gln581Pro	p.Q581P	ENST00000267257	11/11	244	167	77	184	184	0	strelka-varscan-mutect	PXN,missense_variant,p.Gln565Pro,ENST00000536957,;PXN,missense_variant,p.Gln581Pro,ENST00000267257,NM_001243756.1;PXN,missense_variant,p.Gln400Pro,ENST00000458477,NM_025157.4;PXN,missense_variant,p.Gln567Pro,ENST00000228307,NM_001080855.2;PXN,missense_variant,p.Gln533Pro,ENST00000424649,NM_002859.3;PXN,missense_variant,p.Gln1057Pro,ENST00000637617,;PXN,downstream_gene_variant,,ENST00000637386,;PXN-AS1,non_coding_transcript_exon_variant,,ENST00000535200,;PXN-AS1,non_coding_transcript_exon_variant,,ENST00000542265,;PXN-AS1,non_coding_transcript_exon_variant,,ENST00000620336,;PXN-AS1,downstream_gene_variant,,ENST00000539446,;PXN-AS1,downstream_gene_variant,,ENST00000542314,;PXN-AS1,downstream_gene_variant,,ENST00000538804,;PXN,non_coding_transcript_exon_variant,,ENST00000538144,;PXN,downstream_gene_variant,,ENST00000550795,;PXN,3_prime_UTR_variant,,ENST00000323871,;PXN,3_prime_UTR_variant,,ENST00000637624,;	G	ENST00000267257	Transcript	missense_variant	1884/3835	1742/1818	581/605	Q/P	cAg/cCg		1		-1	PXN	HGNC	HGNC:9718	protein_coding	YES	CCDS58281.1	ENSP00000267257	P49023		UPI000013C8CD	NM_001243756.1	tolerated(0.17)		11/11		PROSITE_profiles:PS50023,hmmpanther:PTHR24216,hmmpanther:PTHR24216:SF11,PROSITE_patterns:PS00478,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	9	120212390	120212390	T	G	1	0	0	0	0	1	0	0	0	13006	1580	55	5		5	PXN	12	120212390	Missense_Mutation	SNP	T	C3L-00094_TP	9825953	120212390	13062919	149	3283											
FZD10	0	.	GRCh38	chr12	130163616	130163616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagccgcgaggacaagcGcttcgcagtggtctggctgg	6	7	17	11	4	1	0	0	0	1	0	2	3	1	2	1	5	2	3	1	5	1	1	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.674G>T	p.Arg225Leu	p.R225L	ENST00000229030	1/1	130	90	40	91	91	0	strelka-varscan-mutect	FZD10,missense_variant,p.Arg225Leu,ENST00000229030,NM_007197.3;FZD10,synonymous_variant,p.=,ENST00000539839,;FZD10-AS1,upstream_gene_variant,,ENST00000505807,;FZD10-AS1,upstream_gene_variant,,ENST00000509760,;FZD10-AS1,upstream_gene_variant,,ENST00000537095,;FZD10-AS1,upstream_gene_variant,,ENST00000542000,;	T	ENST00000229030	Transcript	missense_variant	1158/3281	674/1746	225/581	R/L	cGc/cTc		1		1	FZD10	HGNC	HGNC:4039	protein_coding	YES	CCDS9267.1	ENSP00000229030	Q9ULW2		UPI000004EC92	NM_007197.3	tolerated(0.26)		1/1		hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309,Pfam_domain:PF01534,SMART_domains:SM01330																	MODERATE		SNV				1										PASS		.	.												T	3	4	9	130163616	130163616	G	T	1	0	0	0	0	1	0	0	0	6000	1087	38	1		1	FZD10	12	130163616	Missense_Mutation	SNP	G	C3L-00094_TP	9951226	130163616	3111693	150	3284											
ANHX	0	.	GRCh38	chr12	133227029	133227029	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctccctcgcaccagggtCttcagctgtggcctgctggg	3	10	12	16	1	3	0	1	0	2	0	5	0	3	0	4	3	2	3	4	3	0	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.625G>T	p.Asp209Tyr	p.D209Y	ENST00000545940	4/8	190	118	72	110	110	0	strelka-varscan-mutect	ANHX,missense_variant,p.Asp209Tyr,ENST00000545940,;ANHX,missense_variant,p.Asp209Tyr,ENST00000419717,NM_001191054.1;	A	ENST00000545940	Transcript	missense_variant	2364/3452	625/1140	209/379	D/Y	Gac/Tac		1		-1	ANHX	HGNC	HGNC:40024	protein_coding	YES	CCDS53855.1	ENSP00000439513	E9PGG2		UPI0001AE6BD3		deleterious(0.05)		4/8		hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF34																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	9	133227029	133227029	C	A	1	0	0	0	0	1	0	0	0	719	913	32	2		2	ANHX	12	133227029	Missense_Mutation	SNP	C	C3L-00094_TP	3063413	133227029	48280	151	3285											
TUBA3C	0	.	GRCh38	chr13	19177542	19177542	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcagagatgcgaacccAgagccagtgccacccccaaa	14	3	10	14	1	0	3	0	1	0	2	0	5	0	3	5	0	5	1	5	0	2	0	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.441T>A	p.=	p.S147S	ENST00000400113	4/5	52	40	12	66	66	0	strelka-varscan-mutect	TUBA3C,synonymous_variant,p.=,ENST00000400113,NM_006001.2;TUBA3C,synonymous_variant,p.=,ENST00000618094,;RP11-408E5.8,downstream_gene_variant,,ENST00000612362,;	T	ENST00000400113	Transcript	synonymous_variant	546/1551	441/1353	147/450	S	tcT/tcA		1		-1	TUBA3C	HGNC	HGNC:12408	protein_coding	YES	CCDS9284.1	ENSP00000382982	Q13748	Q1ZYQ1	UPI0000027DB1	NM_006001.2			4/5		Low_complexity_(Seg):seg,hmmpanther:PTHR11588:SF94,hmmpanther:PTHR11588,PROSITE_patterns:PS00227,Gene3D:3.40.50.1440,Pfam_domain:PF00091,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	9	19177542	19177542	A	T	1	0	0	0	0	0	0	0	1	17256	175	7	4		4	TUBA3C	13	19177542	Silent	SNP	A	C3L-00094_TP		19177542	95186786	152	3286											
FLT1	0	.	GRCh38	chr13	28433920	28433920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaagtaatttgactgggcGtggtgtgcttatttggacat	8	16	12	5	1	1	1	0	1	1	0	1	2	1	2	0	3	1	2	0	3	3	5	rs139202898		C3L-00094_TP	C3L-00094_NB	G	G																c.712C>A	p.Arg238Ser	p.R238S	ENST00000282397	6/30	409	288	121	406	405	1	strelka-varscan-mutect	FLT1,missense_variant,p.Arg238Ser,ENST00000282397,NM_002019.4;FLT1,missense_variant,p.Arg238Ser,ENST00000615840,NM_001159920.1;FLT1,missense_variant,p.Arg238Ser,ENST00000541932,NM_001160030.1;FLT1,missense_variant,p.Arg238Ser,ENST00000539099,NM_001160031.1;	T	ENST00000282397	Transcript	missense_variant	964/7092	712/4017	238/1338	R/S	Cgc/Agc	rs139202898,COSM1140373,COSM1152639,COSM1649038,COSM550880	1		-1	FLT1	HGNC	HGNC:3763	protein_coding	YES	CCDS9330.1	ENSP00000282397	P17948	L7RSL3	UPI000013DCDD	NM_002019.4	tolerated(0.71)		6/30		Gene3D:2.60.40.10,Pfam_domain:PF00047,Prints_domain:PR01833,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF259,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs139202898	.												T	3	4	9	28433920	28433920	G	T	1	0	0	0	0	1	0	0	0	5797	1145	40	1		1	FLT1	13	28433920	Missense_Mutation	SNP	G	C3L-00094_TP	9256378	28433920	85930408	153	3287											
NBEA	0	.	GRCh38	chr13	35232556	35232556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcgtgaaatttttgtaGactttgccccattcctatct	7	19	5	10	1	2	2	0	1	2	1	4	2	3	2	3	0	1	1	3	0	3	8	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.5713G>T	p.Asp1905Tyr	p.D1905Y	ENST00000400445	34/58	162	124	38	208	208	0	strelka-varscan-mutect	NBEA,missense_variant,p.Asp1905Tyr,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Asp1906Tyr,ENST00000310336,;NBEA,missense_variant,p.Asp1905Tyr,ENST00000629018,;NBEA,missense_variant,p.Asp1902Tyr,ENST00000379939,;	T	ENST00000400445	Transcript	missense_variant	6247/11119	5713/8841	1905/2946	D/Y	Gac/Tac		1		1	NBEA	HGNC	HGNC:7648	protein_coding	YES	CCDS45026.1	ENSP00000383295	Q8NFP9		UPI00004FF92F	NM_015678.4	deleterious(0)		34/58		PD329443,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF62																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	9	35232556	35232556	G	T	1	0	0	0	0	1	0	0	0	10198	942	33	2		2	NBEA	13	35232556	Missense_Mutation	SNP	G	C3L-00094_TP	6798636	35232556	79131772	154	3288											
TBC1D4	0	.	GRCh38	chr13	75306363	75306363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcacatctgattttagctCtgcagtttaacaacttctta	11	17	4	9	0	4	1	1	1	3	0	4	1	4	1	0	0	4	3	0	0	5	7	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.2702G>T	p.Arg901Ile	p.R901I	ENST00000377636	15/21	154	123	31	193	191	2	strelka-varscan-mutect	TBC1D4,missense_variant,p.Arg901Ile,ENST00000377636,NM_014832.3;TBC1D4,missense_variant,p.Arg893Ile,ENST00000431480,NM_001286658.1;TBC1D4,missense_variant,p.Arg838Ile,ENST00000377625,NM_001286659.1;TBC1D4,downstream_gene_variant,,ENST00000413735,;TBC1D4,upstream_gene_variant,,ENST00000478591,;TBC1D4,downstream_gene_variant,,ENST00000493487,;	A	ENST00000377636	Transcript	missense_variant	3049/6364	2702/3897	901/1298	R/I	aGa/aTa		1		-1	TBC1D4	HGNC	HGNC:19165	protein_coding	YES	CCDS41901.1	ENSP00000366863	O60343		UPI00001AE7B3	NM_014832.3	deleterious(0)		15/21		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF195,Superfamily_domains:SSF47923																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	9	75306363	75306363	C	A	1	0	0	0	0	1	0	0	0	16027	913	32	2		2	TBC1D4	13	75306363	Missense_Mutation	SNP	C	C3L-00094_TP	40073807	75306363	39057965	155	3289											
DCT	0	.	GRCh38	chr13	94462105	94462105	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaaggttggcaatttcatGctgtttcttcccatttgatt	7	20	7	7	0	2	1	1	1	1	0	3	1	3	1	1	2	1	4	1	2	2	8	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.948C>G	p.Ser316Arg	p.S316R	ENST00000446125	5/10	305	236	69	304	304	0	strelka-varscan-mutect	DCT,missense_variant,p.Ser316Arg,ENST00000377028,NM_001922.3;DCT,missense_variant,p.Ser316Arg,ENST00000446125,NM_001129889.1;DCT,downstream_gene_variant,,ENST00000490854,;DCT,missense_variant,p.Ser126Arg,ENST00000483392,;DCT,downstream_gene_variant,,ENST00000472871,;	C	ENST00000446125	Transcript	missense_variant	1375/2395	948/1659	316/552	S/R	agC/agG		1		-1	DCT	HGNC	HGNC:2709	protein_coding	YES	CCDS45060.1	ENSP00000392762	P40126		UPI0000E13F02	NM_001129889.1	tolerated(0.56)		5/10		Gene3D:1.10.1280.10,Pfam_domain:PF00264,hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF4,Superfamily_domains:SSF48056																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	9	94462105	94462105	G	C	1	0	0	0	0	1	0	0	0	4107	1310	46	4		4	DCT	13	94462105	Missense_Mutation	SNP	G	C3L-00094_TP	19155742	94462105	19902223	156	3290											
MYO16	0	.	GRCh38	chr13	109140699	109140699	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggggcccccaggggAcgcgtgcgacatcccgccgc	4	2	18	17	7	0	0	0	0	0	0	1	2	1	1	4	6	1	0	4	6	0	0	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.4487A>T	p.Asp1496Val	p.D1496V	ENST00000457511	32/35	72	53	19	78	78	0	strelka-varscan-mutect	MYO16,missense_variant,p.Asp1496Val,ENST00000457511,NM_001198950.1;MYO16,missense_variant,p.Asp1474Val,ENST00000356711,NM_015011.1;MYO16,missense_variant,p.Asp1474Val,ENST00000357550,;	T	ENST00000457511	Transcript	missense_variant	5109/7436	4487/5643	1496/1880	D/V	gAc/gTc		1		1	MYO16	HGNC	HGNC:29822	protein_coding	YES	CCDS73598.1	ENSP00000401633		F8W883	UPI00002375AE	NM_001198950.1	deleterious_low_confidence(0.02)		32/35		Pfam_domain:PF15439																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	109140699	109140699	A	T	1	0	0	0	0	1	0	0	0	10065	275	10	4		4	MYO16	13	109140699	Missense_Mutation	SNP	A	C3L-00094_TP	14678594	109140699	5223629	157	3291											
OR4M1	0	.	GRCh38	chr14	19780557	19780557	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtactcttccattacagccCctaaaatgctcatagacttc	11	12	5	13	0	2	1	1	0	1	1	4	1	3	1	3	1	4	2	3	1	5	6			C3L-00094_TP	C3L-00094_NB	C	C																c.235C>A	p.Pro79Thr	p.P79T	ENST00000315957	1/1	307	289	18	263	262	1	varscan-mutect	OR4M1,missense_variant,p.Pro79Thr,ENST00000315957,NM_001005500.1;OR4N2,intron_variant,,ENST00000557414,;	A	ENST00000315957	Transcript	missense_variant	316/1116	235/942	79/313	P/T	Cct/Act	COSM1649083	1		1	OR4M1	HGNC	HGNC:14735	protein_coding	YES	CCDS32021.1	ENSP00000319654	Q8NGD0	A0A126GWC3	UPI0000061F0F	NM_001005500.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE	1	SNV			1	1										PASS		rs1280030056	.												A	3	1	9	19780557	19780557	C	A	1	0	0	0	0	1	0	0	0	11152	623	22	2		2	OR4M1	14	19780557	Missense_Mutation	SNP	C	C3L-00094_TP		19780557	87263161	158	3292											
OR4N2	0	.	GRCh38	chr14	19828339	19828339	+	Silent	SNP	C	C	A																															aaccaggaagtgaaagcttcCatgaaaaaggtgtttaataa																								rs765549677		C3L-00094_TP	C3L-00094_NB	C	C																c.891C>A	p.=	p.S297S	ENST00000315947	1/1	202	153	49	208	207	1	strelka-varscan-mutect	OR4N2,synonymous_variant,p.=,ENST00000315947,NM_001004723.2;OR4N2,downstream_gene_variant,,ENST00000557414,;OR4N2,downstream_gene_variant,,ENST00000557677,;	A	ENST00000315947	Transcript	synonymous_variant	891/924	891/924	297/307	S	tcC/tcA	rs765549677,COSM4958379	1		1	OR4N2	HGNC	HGNC:14742	protein_coding	YES	CCDS32022.1	ENSP00000319601	Q8NGD1	A0A126GVT2	UPI000004A5DF	NM_001004723.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF439,Superfamily_domains:SSF81321											0,1						LOW	1	SNV			0,1	1										PASS		rs765549677	.												A	2	1	9	19828339	19828339	C	A	1	0	0	0	0	0	0	0	1	11153	581	21	2		2	OR4N2	14	19828339	Silent	SNP	C	C3L-00094_TP	47782	19828339	87215379	159	3293	72	2									
OR4N2	0	.	GRCh38	chr14	19828340	19828340	+	Missense_Mutation	SNP	A	A	T																															accaggaagtgaaagcttccAtgaaaaaggtgtttaataag																								rs750447313		C3L-00094_TP	C3L-00094_NB	A	A																c.892A>T	p.Met298Leu	p.M298L	ENST00000315947	1/1	201	156	45	205	205	0	strelka-varscan-mutect	OR4N2,missense_variant,p.Met298Leu,ENST00000315947,NM_001004723.2;OR4N2,downstream_gene_variant,,ENST00000557414,;OR4N2,downstream_gene_variant,,ENST00000557677,;	T	ENST00000315947	Transcript	missense_variant	892/924	892/924	298/307	M/L	Atg/Ttg	rs750447313	1		1	OR4N2	HGNC	HGNC:14742	protein_coding	YES	CCDS32022.1	ENSP00000319601	Q8NGD1	A0A126GVT2	UPI000004A5DF	NM_001004723.2	tolerated(0.08)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF439,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs750447313	.												T	3	4	9	19828340	19828340	A	T	1	0	0	0	0	1	0	0	0	11153	217	8	4		4	OR4N2	14	19828340	Missense_Mutation	SNP	A	C3L-00094_TP	1	19828340	87215378	160	3294	72	2									
OR4K15	0	.	GRCh38	chr14	19975598	19975598	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccaaaatcgatgaatgAgacaaatcattctcgggtga	14	10	8	9	2	2	3	1	3	1	1	5	5	3	3	2	1	0	0	2	1	4	2	rs146301798		C3L-00094_TP	C3L-00094_NB	A	A																c.80A>T	p.Glu27Val	p.E27V	ENST00000305051	1/1	180	120	60	178	178	0	strelka-varscan-mutect	OR4K15,missense_variant,p.Glu27Val,ENST00000305051,NM_001005486.1;	T	ENST00000305051	Transcript	missense_variant	155/1216	80/1047	27/348	E/V	gAg/gTg	rs146301798	1		1	OR4K15	HGNC	HGNC:15353	protein_coding	YES	CCDS32026.1	ENSP00000304077	Q8NH41		UPI000015F249	NM_001005486.1	tolerated(0.29)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF287,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs146301798	.												T	3	4	9	19975598	19975598	A	T	1	0	0	0	0	1	0	0	0	11147	304	11	4		4	OR4K15	14	19975598	Missense_Mutation	SNP	A	C3L-00094_TP	147258	19975598	87068120	161	3295											
NYNRIN	0	.	GRCh38	chr14	24414659	24414659	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcccagctcagccagTgtcactgagctgagtgatga	8	10	10	13	0	2	4	2	4	0	0	4	4	4	4	3	0	3	2	3	0	0	1	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.2910T>C	p.=	p.S970S	ENST00000382554	9/9	328	107	221	118	118	0	strelka-varscan-mutect	NYNRIN,synonymous_variant,p.=,ENST00000382554,NM_025081.2;NYNRIN,non_coding_transcript_exon_variant,,ENST00000554505,;	C	ENST00000382554	Transcript	synonymous_variant	3228/7857	2910/5697	970/1898	S	agT/agC		1		1	NYNRIN	HGNC	HGNC:20165	protein_coding	YES	CCDS45090.1	ENSP00000371994	Q9P2P1		UPI0000251E63	NM_025081.2			9/9																			LOW	1	SNV	5			1										PASS		.	.												C	2	2	9	24414659	24414659	T	C	1	0	0	0	0	0	0	0	1	10874	1693	59	5		5	NYNRIN	14	24414659	Silent	SNP	T	C3L-00094_TP	4439061	24414659	82629059	162	3296											
STXBP6	0	.	GRCh38	chr14	24857089	24857089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catccactgtgatctccgaaCaaatgatgtggagccttcaa	12	10	8	11	1	2	2	1	2	1	0	4	4	3	3	3	1	2	0	3	1	3	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.223G>T	p.Val75Phe	p.V75F	ENST00000323944	3/6	325	115	210	174	174	0	strelka-varscan-mutect	STXBP6,missense_variant,p.Val75Phe,ENST00000323944,;STXBP6,missense_variant,p.Val75Phe,ENST00000396700,NM_001304476.1;STXBP6,missense_variant,p.Val75Phe,ENST00000419632,NM_014178.7;STXBP6,missense_variant,p.Val75Phe,ENST00000550887,;STXBP6,missense_variant,p.Val75Phe,ENST00000546511,NM_001304477.1;STXBP6,3_prime_UTR_variant,,ENST00000548182,;	A	ENST00000323944	Transcript	missense_variant	675/4132	223/633	75/210	V/F	Gtt/Ttt		1		-1	STXBP6	HGNC	HGNC:19666	protein_coding	YES	CCDS9634.1	ENSP00000324302	Q8NFX7		UPI000006DD7D		deleterious(0.04)		3/6		Pfam_domain:PF15277,hmmpanther:PTHR16092,SMART_domains:SM01313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	24857089	24857089	C	A	1	0	0	0	0	1	0	0	0	15742	478	17	2		2	STXBP6	14	24857089	Missense_Mutation	SNP	C	C3L-00094_TP	442430	24857089	82186629	163	3297											
AKAP6	0	.	GRCh38	chr14	32545611	32545611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtcgaagagcaaccaGgcttaacactgggggtgtca	11	7	13	10	1	1	1	1	0	0	1	2	2	1	1	1	3	4	3	1	3	3	1	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.958G>T	p.Gly320Cys	p.G320C	ENST00000280979	4/14	561	131	430	203	202	1	strelka-varscan-mutect	AKAP6,missense_variant,p.Gly320Cys,ENST00000280979,NM_004274.4;AKAP6,missense_variant,p.Gly320Cys,ENST00000557354,;AKAP6,missense_variant,p.Gly320Cys,ENST00000557272,;AKAP6,missense_variant,p.Gly78Cys,ENST00000553547,;AKAP6,downstream_gene_variant,,ENST00000556638,;AKAP6,downstream_gene_variant,,ENST00000554410,;	T	ENST00000280979	Transcript	missense_variant	1128/15006	958/6960	320/2319	G/C	Ggc/Tgc		1		1	AKAP6	HGNC	HGNC:376	protein_coding	YES	CCDS9644.1	ENSP00000280979	Q13023		UPI000013DC48	NM_004274.4	tolerated(0.18)		4/14		hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	32545611	32545611	G	T	1	0	0	0	0	1	0	0	0	539	1000	35	2		2	AKAP6	14	32545611	Missense_Mutation	SNP	G	C3L-00094_TP	7688522	32545611	74498107	164	3298											
PYGL	0	.	GRCh38	chr14	50905404	50905404	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagagttcaatttccattGactttgttagattcattgga	10	18	7	6	0	3	3	2	1	1	2	4	4	4	4	1	1	0	2	1	1	3	8	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.2532C>A	p.=	p.V844V	ENST00000216392	20/20	208	184	24	283	282	1	strelka-varscan-mutect	PYGL,synonymous_variant,p.=,ENST00000216392,NM_002863.4;PYGL,synonymous_variant,p.=,ENST00000544180,NM_001163940.1;PYGL,intron_variant,,ENST00000532462,;ABHD12B,downstream_gene_variant,,ENST00000337334,NM_001206673.1;ABHD12B,downstream_gene_variant,,ENST00000353130,NM_181814.1;ABHD12B,downstream_gene_variant,,ENST00000554566,;ABHD12B,downstream_gene_variant,,ENST00000556857,;ABHD12B,downstream_gene_variant,,ENST00000553715,;ABHD12B,downstream_gene_variant,,ENST00000382029,NM_181533.3;ABHD12B,downstream_gene_variant,,ENST00000557345,;PYGL,downstream_gene_variant,,ENST00000532107,;	T	ENST00000216392	Transcript	synonymous_variant	2865/3048	2532/2544	844/847	V	gtC/gtA		1		-1	PYGL	HGNC	HGNC:9725	protein_coding	YES	CCDS32080.1	ENSP00000216392	P06737		UPI000011136E	NM_002863.4			20/20		PIRSF_domain:PIRSF000460																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	9	50905404	50905404	G	T	1	0	0	0	0	0	0	0	1	13015	1277	45	2		2	PYGL	14	50905404	Silent	SNP	G	C3L-00094_TP	18359793	50905404	56138314	165	3299											
PCNX4	0	.	GRCh38	chr14	60118482	60118482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttttctccattcgtgttgGtcatcatagttttttctaca	6	21	5	9	1	5	0	2	0	3	0	7	0	5	0	1	1	1	2	1	1	2	9	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1030G>A	p.Val344Ile	p.V344I	ENST00000317623	6/10	175	156	19	243	243	0	strelka-varscan-mutect	PCNX4,missense_variant,p.Val344Ile,ENST00000317623,NM_022495.5;PCNX4,missense_variant,p.Val578Ile,ENST00000406854,;PCNX4,missense_variant,p.Val344Ile,ENST00000406949,;PCNX4,intron_variant,,ENST00000554534,;PCNX4,downstream_gene_variant,,ENST00000556907,;PCNX4,missense_variant,p.Val14Ile,ENST00000555740,;PCNX4,non_coding_transcript_exon_variant,,ENST00000483571,;PCNX4,non_coding_transcript_exon_variant,,ENST00000553513,;PCNX4,upstream_gene_variant,,ENST00000555929,;PCNX4,downstream_gene_variant,,ENST00000555569,;	A	ENST00000317623	Transcript	missense_variant	1552/17339	1030/2817	344/938	V/I	Gtc/Atc		1		1	PCNX4	HGNC	HGNC:20349	protein_coding	YES		ENSP00000317396		B6ZDM2	UPI00014F7B83	NM_022495.5	tolerated(0.31)		6/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR12372																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	9	60118482	60118482	G	A	1	0	0	0	0	1	0	0	0	11682	1261	44	3		3	PCNX4	14	60118482	Missense_Mutation	SNP	G	C3L-00094_TP	9213078	60118482	46925236	166	3300											
STON2	0	.	GRCh38	chr14	81371027	81371027	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctggccactcgtctgctCctcagcattgatgagctgca	7	10	10	14	1	2	2	1	2	1	0	4	2	3	2	3	1	5	4	3	1	0	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.532G>T	p.Glu178Ter	p.E178*	ENST00000555447	5/8	249	175	74	234	234	0	strelka-varscan-mutect	STON2,stop_gained,p.Glu178Ter,ENST00000555447,NM_001256430.1;STON2,stop_gained,p.Glu178Ter,ENST00000267540,NM_033104.3;STON2,stop_gained,p.Glu178Ter,ENST00000614646,;	A	ENST00000555447	Transcript	stop_gained	945/4302	532/2763	178/920	E/*	Gag/Tag		1		-1	STON2	HGNC	HGNC:30652	protein_coding	YES	CCDS58332.1	ENSP00000450857	Q8WXE9		UPI00001FD96B	NM_001256430.1			5/8		PIRSF_domain:PIRSF037099,Pfam_domain:PF12016																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	9	81371027	81371027	C	A	1	0	0	0	0	0	1	0	0	15696	864	30	2		2	STON2	14	81371027	Nonsense_Mutation	SNP	C	C3L-00094_TP	21252545	81371027	25672691	167	3301											
UNC79	0	.	GRCh38	chr14	93621978	93621978	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtcataccagaggttaGgttaaactgtatggagactt	11	12	11	7	0	1	2	1	0	0	2	1	3	1	2	2	3	2	3	2	3	5	5	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.4214G>C	p.Arg1405Thr	p.R1405T	ENST00000256339	30/50	253	214	39	276	276	0	strelka-varscan-mutect	UNC79,missense_variant,p.Arg1604Thr,ENST00000553484,;UNC79,missense_variant,p.Arg1582Thr,ENST00000555664,;UNC79,missense_variant,p.Arg1405Thr,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Arg1582Thr,ENST00000393151,;UNC79,missense_variant,p.Arg1405Thr,ENST00000621021,;	C	ENST00000256339	Transcript	missense_variant	4869/8400	4214/7377	1405/2458	R/T	aGg/aCg		1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3	deleterious_low_confidence(0)		30/50		hmmpanther:PTHR21696:SF2,hmmpanther:PTHR21696																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	9	93621978	93621978	G	C	1	0	0	0	0	1	0	0	0	17520	1000	35	4		4	UNC79	14	93621978	Missense_Mutation	SNP	G	C3L-00094_TP	12250951	93621978	13421740	168	3302											
AHNAK2	0	.	GRCh38	chr14	104944092	104944092	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcggccagggacaggtcccCctccagctgtgcactatcca	7	7	11	16	1	0	0	0	0	0	0	4	1	3	1	5	3	2	2	5	3	1	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.11359G>T	p.Gly3787Trp	p.G3787W	ENST00000333244	7/7	470	314	156	532	531	1	strelka-varscan-mutect	AHNAK2,missense_variant,p.Gly3787Trp,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	A	ENST00000333244	Transcript	missense_variant	11479/18254	11359/17388	3787/5795	G/W	Ggg/Tgg		1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	deleterious(0)		7/7		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37																	MODERATE	1	SNV	5			1										PASS		rs1224025041	.												A	3	1	9	104944092	104944092	C	A	1	0	0	0	0	1	0	0	0	492	623	22	2		2	AHNAK2	14	104944092	Missense_Mutation	SNP	C	C3L-00094_TP	11322114	104944092	2099626	169	3303											
NPAP1	0	.	GRCh38	chr15	24676527	24676527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaagttctcagaaaacagCatgagtgagaaggcccaggc	15	5	11	10	0	1	3	1	2	1	2	2	4	1	3	1	2	2	2	1	2	4	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.660C>A	p.Ser220Arg	p.S220R	ENST00000329468	1/1	107	89	18	116	116	0	strelka-varscan-mutect	NPAP1,missense_variant,p.Ser220Arg,ENST00000329468,NM_018958.2;	A	ENST00000329468	Transcript	missense_variant	660/7526	660/3471	220/1156	S/R	agC/agA		1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2	deleterious(0.02)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15,Pfam_domain:PF15229																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	9	24676527	24676527	C	A	1	0	0	0	0	1	0	0	0	10609	709	25	2		2	NPAP1	15	24676527	Missense_Mutation	SNP	C	C3L-00094_TP		24676527	77314662	170	3304											
GABRA5	0	.	GRCh38	chr15	26948122	26948122	+	Missense_Mutation	SNP	C	C	A																															aacagtatcagcaaaattgaCaaaatgtcccgaatcgtatt																										C3L-00094_TP	C3L-00094_NB	C	C																c.1278C>A	p.Asp426Glu	p.D426E	ENST00000335625	11/11	343	301	42	446	446	0	strelka-varscan-mutect	GABRA5,missense_variant,p.Asp426Glu,ENST00000335625,NM_000810.3;GABRA5,missense_variant,p.Asp426Glu,ENST00000400081,NM_001165037.1;GABRA5,missense_variant,p.Asp426Glu,ENST00000355395,;	A	ENST00000335625	Transcript	missense_variant	2166/3251	1278/1389	426/462	D/E	gaC/gaA	COSM3500240	1		1	GABRA5	HGNC	HGNC:4079	protein_coding	YES	CCDS45194.1	ENSP00000335592	P31644		UPI000002D731	NM_000810.3	deleterious(0)		11/11		Gene3D:1.20.58.390,Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	9	26948122	26948122	C	A	1	0	0	0	0	1	0	0	0	6035	477	17	2		2	GABRA5	15	26948122	Missense_Mutation	SNP	C	C3L-00094_TP	2271595	26948122	75043067	171	3305	73	2									
GABRA5	0	.	GRCh38	chr15	26948127	26948127	+	Missense_Mutation	SNP	T	T	G																															tatcagcaaaattgacaaaaTgtcccgaatcgtattcccag																								novel		C3L-00094_TP	C3L-00094_NB	T	T																c.1283T>G	p.Met428Arg	p.M428R	ENST00000335625	11/11	338	298	40	445	444	1	strelka-varscan-mutect	GABRA5,missense_variant,p.Met428Arg,ENST00000335625,NM_000810.3;GABRA5,missense_variant,p.Met428Arg,ENST00000400081,NM_001165037.1;GABRA5,missense_variant,p.Met428Arg,ENST00000355395,;	G	ENST00000335625	Transcript	missense_variant	2171/3251	1283/1389	428/462	M/R	aTg/aGg		1		1	GABRA5	HGNC	HGNC:4079	protein_coding	YES	CCDS45194.1	ENSP00000335592	P31644		UPI000002D731	NM_000810.3	deleterious(0.01)		11/11		Gene3D:1.20.58.390,Prints_domain:PR00253,Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	9	26948127	26948127	T	G	1	0	0	0	0	1	0	0	0	6035	1464	51	5		5	GABRA5	15	26948127	Missense_Mutation	SNP	T	C3L-00094_TP	5	26948127	75043062	172	3306	73	2									
SPINT1	0	.	GRCh38	chr15	40845018	40845018	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccgccagctgcggacccAgggctttggaggtgaggagg	7	6	17	11	2	0	1	0	1	0	0	0	4	0	4	3	6	3	2	3	6	1	2	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.464A>T	p.Gln155Leu	p.Q155L	ENST00000344051	2/11	45	34	11	44	44	0	strelka-varscan-mutect	SPINT1,missense_variant,p.Gln155Leu,ENST00000344051,NM_181642.2;SPINT1,missense_variant,p.Gln155Leu,ENST00000562057,NM_003710.3,NM_001032367.1;SPINT1,missense_variant,p.Gln115Leu,ENST00000568580,;SPINT1,missense_variant,p.Gln155Leu,ENST00000563656,;SPINT1,missense_variant,p.Gln217Leu,ENST00000568823,;RP11-532F12.5,upstream_gene_variant,,ENST00000564302,;RP11-532F12.5,upstream_gene_variant,,ENST00000565315,;RP11-532F12.5,upstream_gene_variant,,ENST00000568419,;RP11-532F12.5,upstream_gene_variant,,ENST00000568525,;RP11-532F12.5,upstream_gene_variant,,ENST00000563217,;	T	ENST00000344051	Transcript	missense_variant	698/3056	464/1590	155/529	Q/L	cAg/cTg		1		1	SPINT1	HGNC	HGNC:11246	protein_coding	YES	CCDS10067.1	ENSP00000342098	O43278		UPI00001AE46F	NM_181642.2	tolerated(0.13)		2/11		hmmpanther:PTHR10083:SF231,hmmpanther:PTHR10083																	MODERATE	1	SNV	1			1										PASS		rs1277654309	.												T	3	4	9	40845018	40845018	A	T	1	0	0	0	0	1	0	0	0	15420	188	7	4		4	SPINT1	15	40845018	Missense_Mutation	SNP	A	C3L-00094_TP	13896891	40845018	61146171	173	3307											
VPS39	0	.	GRCh38	chr15	42166608	42166608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctctcgtggcctttcagagGggagttggctttcttggact	4	14	13	10	1	3	1	1	0	2	1	4	3	3	3	2	5	0	2	2	5	0	4	rs749429530		C3L-00094_TP	C3L-00094_NB	G	G																c.1594C>A	p.Pro532Thr	p.P532T	ENST00000348544	16/26	211	166	45	253	252	1	strelka-varscan-mutect	VPS39,missense_variant,p.Pro521Thr,ENST00000318006,NM_015289.3;VPS39,missense_variant,p.Pro532Thr,ENST00000348544,NM_001301138.1;VPS39,non_coding_transcript_exon_variant,,ENST00000563692,;VPS39,upstream_gene_variant,,ENST00000562258,;VPS39,downstream_gene_variant,,ENST00000568029,;VPS39,upstream_gene_variant,,ENST00000564994,;VPS39,upstream_gene_variant,,ENST00000568755,;VPS39,upstream_gene_variant,,ENST00000561797,;VPS39,upstream_gene_variant,,ENST00000561818,;VPS39,upstream_gene_variant,,ENST00000562662,;	T	ENST00000348544	Transcript	missense_variant	1594/2661	1594/2661	532/886	P/T	Cct/Act	rs749429530,COSM4468775,COSM4468776	1		-1	VPS39	HGNC	HGNC:20593	protein_coding	YES	CCDS73710.1	ENSP00000335193	Q96JC1		UPI000013E629	NM_001301138.1	tolerated(0.07)		16/26		Pfam_domain:PF10366,hmmpanther:PTHR12894,hmmpanther:PTHR12894:SF10											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs749429530	.												T	3	4	9	42166608	42166608	G	T	1	0	0	0	0	1	0	0	0	17755	1232	43	2		2	VPS39	15	42166608	Missense_Mutation	SNP	G	C3L-00094_TP	1321590	42166608	59824581	174	3308											
HDC	0	.	GRCh38	chr15	50254193	50254193	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctgaagagcttcccctcgGagtgagaagttgtcatccac	9	11	10	11	1	2	3	1	2	1	2	5	5	4	4	3	1	1	2	3	1	2	3			C3L-00094_TP	C3L-00094_NB	G	G																c.657C>A	p.=	p.L219L	ENST00000267845	6/12	349	262	87	363	363	0	strelka-varscan-mutect	HDC,synonymous_variant,p.=,ENST00000267845,NM_002112.3;HDC,synonymous_variant,p.=,ENST00000543581,NM_001306146.1;HDC,downstream_gene_variant,,ENST00000559683,;HDC,non_coding_transcript_exon_variant,,ENST00000558679,;HDC,non_coding_transcript_exon_variant,,ENST00000558761,;HDC,non_coding_transcript_exon_variant,,ENST00000559190,;HDC,upstream_gene_variant,,ENST00000559816,;	T	ENST00000267845	Transcript	synonymous_variant	1060/2705	657/1989	219/662	L	ctC/ctA	COSM4251926	1		-1	HDC	HGNC	HGNC:4855	protein_coding	YES	CCDS10134.1	ENSP00000267845	P19113		UPI0000128FB4	NM_002112.3			6/12		Gene3D:3.40.640.10,Pfam_domain:PF00282,hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF68,Superfamily_domains:SSF53383											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	9	50254193	50254193	G	T	1	0	0	0	0	0	0	0	1	6902	1161	41	2		2	HDC	15	50254193	Silent	SNP	G	C3L-00094_TP	8087585	50254193	51736996	175	3309											
TRPM7	0	.	GRCh38	chr15	50614264	50614264	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctggaggaagatttccCtagaaacaaaacatttgttt	14	13	7	7	0	0	2	0	0	0	2	2	4	2	4	2	2	2	1	2	2	6	5	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.1495-1G>A		p.X499_splice	ENST00000313478		53	43	10	53	53	0	strelka-varscan-mutect	TRPM7,splice_acceptor_variant,,ENST00000313478,NM_017672.5;TRPM7,splice_acceptor_variant,,ENST00000560955,NM_001301212.1;TRPM7,splice_acceptor_variant,,ENST00000560638,;	T	ENST00000313478	Transcript	splice_acceptor_variant	-/10400	1495/5598	499/1865				1		-1	TRPM7	HGNC	HGNC:17994	protein_coding	YES	CCDS42035.1	ENSP00000320239	Q96QT4	A0A024R5V1	UPI0000071CBA	NM_017672.5				13/38																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	9	50614264	50614264	C	T	1	0	0	0	0	0	0	1	0	17097	695	24	3		3	TRPM7	15	50614264	Splice_Site	SNP	C	C3L-00094_TP	360071	50614264	51376925	176	3310											
SPPL2A	0	.	GRCh38	chr15	50748113	50748113	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgtaattgctaatttacCtggttcatatctctaaagtc	12	17	5	7	0	2	0	1	0	1	0	4	0	2	0	1	1	2	3	1	1	7	9	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.450G>T	p.Gln150His	p.Q150H	ENST00000261854	4/15	54	41	13	113	112	1	strelka-varscan-mutect	SPPL2A,missense_variant,p.Gln150His,ENST00000261854,NM_032802.3;SPPL2A,missense_variant,p.Gln108His,ENST00000558414,;SPPL2A,upstream_gene_variant,,ENST00000558934,;RP11-507J18.2,intron_variant,,ENST00000558317,;RP11-507J18.5,upstream_gene_variant,,ENST00000624738,;SPPL2A,non_coding_transcript_exon_variant,,ENST00000560288,;SPPL2A,upstream_gene_variant,,ENST00000559527,;	A	ENST00000261854	Transcript	missense_variant,splice_region_variant	725/7372	450/1563	150/520	Q/H	caG/caT		1		-1	SPPL2A	HGNC	HGNC:30227	protein_coding	YES	CCDS10138.1	ENSP00000261854	Q8TCT8		UPI0000013591	NM_032802.3	tolerated(0.25)		4/15		Gene3D:3.50.30.30,hmmpanther:PTHR12174,hmmpanther:PTHR12174:SF34,Superfamily_domains:SSF52025																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	50748113	50748113	C	A	1	0	0	0	0	1	0	0	0	15441	695	24	2		2	SPPL2A	15	50748113	Missense_Mutation	SNP	C	C3L-00094_TP	133849	50748113	51243076	177	3311											
DMXL2	0	.	GRCh38	chr15	51536436	51536436	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttattgtctgagtcccactGacaatctaattcaggagtca	11	14	7	9	0	4	2	2	2	2	0	5	3	5	3	1	1	0	0	1	1	3	5	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.2044C>T	p.Gln682Ter	p.Q682*	ENST00000543779	12/43	124	106	18	166	166	0	strelka-varscan-mutect	DMXL2,stop_gained,p.Gln682Ter,ENST00000251076,NM_015263.3;DMXL2,stop_gained,p.Gln682Ter,ENST00000543779,NM_001174116.1;DMXL2,stop_gained,p.Gln682Ter,ENST00000449909,NM_001174117.1;	A	ENST00000543779	Transcript	stop_gained	2134/10400	2044/9114	682/3037	Q/*	Cag/Tag		1		-1	DMXL2	HGNC	HGNC:2938	protein_coding	YES	CCDS53946.1	ENSP00000441858	Q8TDJ6		UPI00001FE4C2	NM_001174116.1			12/43		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF11																	HIGH	1	SNV	1			1										PASS		rs1410214912	.												A	4	1	9	51536436	51536436	G	A	1	0	0	0	0	0	1	0	0	4404	1299	45	3		3	DMXL2	15	51536436	Nonsense_Mutation	SNP	G	C3L-00094_TP	788323	51536436	50454753	178	3312											
KIAA1024	0	.	GRCh38	chr15	79456699	79456699	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgggagttagcaaagaGgtgaaaaaccgcgccgcttc	11	8	13	9	3	0	2	0	1	0	1	1	3	0	3	2	2	2	4	2	2	4	3	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.552G>C	p.Glu184Asp	p.E184D	ENST00000305428	2/4	169	126	43	232	232	0	strelka-varscan-mutect	KIAA1024,missense_variant,p.Glu184Asp,ENST00000305428,NM_015206.2;KIAA1024,missense_variant,p.Glu184Asp,ENST00000559272,;	C	ENST00000305428	Transcript	missense_variant	627/6732	552/2751	184/916	E/D	gaG/gaC		1		1	KIAA1024	HGNC	HGNC:29172	protein_coding	YES	CCDS32306.1	ENSP00000307461	Q9UPX6		UPI00001B2F56	NM_015206.2	tolerated(0.53)		2/4		hmmpanther:PTHR31530,hmmpanther:PTHR31530:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	9	79456699	79456699	G	C	1	0	0	0	0	1	0	0	0	8097	991	35	4		4	KIAA1024	15	79456699	Missense_Mutation	SNP	G	C3L-00094_TP	27920263	79456699	22534490	179	3313											
IL16	0	.	GRCh38	chr15	81300043	81300043	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagcaagtactgtcctCggggtcccctgcagcctccg	5	8	12	16	2	0	1	0	1	0	0	4	1	3	1	6	2	4	3	6	2	2	1	rs17875513		C3L-00094_TP	C3L-00094_NB	C	C																c.2717C>A	p.Ser906Ter	p.S906*	ENST00000302987	13/18	36	23	13	50	50	0	strelka-varscan-mutect	IL16,stop_gained,p.Ser906Ter,ENST00000394660,NM_001172128.1;IL16,stop_gained,p.Ser906Ter,ENST00000302987,NM_172217.3;IL16,stop_gained,p.Ser205Ter,ENST00000394652,NM_004513.5;IL16,stop_gained,p.Ser210Ter,ENST00000558332,;RP11-761I4.4,downstream_gene_variant,,ENST00000607019,;IL16,non_coding_transcript_exon_variant,,ENST00000560230,;IL16,upstream_gene_variant,,ENST00000559342,;IL16,3_prime_UTR_variant,,ENST00000360547,;IL16,3_prime_UTR_variant,,ENST00000560115,;IL16,3_prime_UTR_variant,,ENST00000558857,;	A	ENST00000302987	Transcript	stop_gained	2717/3999	2717/3999	906/1332	S/*	tCg/tAg	rs17875513	1		1	IL16	HGNC	HGNC:5980	protein_coding	YES	CCDS42069.1	ENSP00000302935	Q14005		UPI0000229CE7	NM_172217.3			13/18		hmmpanther:PTHR11324:SF2,hmmpanther:PTHR11324																	HIGH	1	SNV	1			1										PASS		rs17875513	.												A	4	1	9	81300043	81300043	C	A	1	0	0	0	0	0	1	0	0	7541	893	31	1		1	IL16	15	81300043	Nonsense_Mutation	SNP	C	C3L-00094_TP	1843344	81300043	20691146	180	3314											
TRAF7	0	.	GRCh38	chr16	2175845	2175845	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tactcatagatctgggacatCcgaacccttgactgcatcca	11	10	7	13	1	2	2	1	1	1	1	4	4	4	3	3	1	3	1	3	1	3	3	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.1638C>T	p.=	p.I546I	ENST00000326181	18/21	74	55	19	56	56	0	strelka-varscan-mutect	TRAF7,synonymous_variant,p.=,ENST00000326181,NM_032271.2;CASKIN1,downstream_gene_variant,,ENST00000343516,NM_020764.3;TRAF7,downstream_gene_variant,,ENST00000567645,;TRAF7,downstream_gene_variant,,ENST00000564067,;TRAF7,downstream_gene_variant,,ENST00000569686,;TRAF7,downstream_gene_variant,,ENST00000570169,;	T	ENST00000326181	Transcript	synonymous_variant	1770/3700	1638/2013	546/670	I	atC/atT		1		1	TRAF7	HGNC	HGNC:20456	protein_coding	YES	CCDS10461.1	ENSP00000318944	Q6Q0C0		UPI000014186F	NM_032271.2			18/21		PROSITE_profiles:PS50294,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF165,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	9	2175845	2175845	C	T	1	0	0	0	0	0	0	0	1	16929	845	30	3		3	TRAF7	16	2175845	Silent	SNP	C	C3L-00094_TP		2175845	88162500	181	3315											
SRCAP	0	.	GRCh38	chr16	30738129	30738129	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggaactcgttacagctGaggttgcagctccatccacc	10	8	9	14	1	0	1	0	1	0	0	3	2	2	2	3	2	5	5	3	2	2	2	rs144963691		C3L-00094_TP	C3L-00094_NB	G	G																c.8089G>T	p.Glu2697Ter	p.E2697*	ENST00000262518	34/34	162	112	50	121	121	0	strelka-varscan-mutect	SRCAP,stop_gained,p.Glu2697Ter,ENST00000262518,NM_006662.2;SRCAP,stop_gained,p.Glu2438Ter,ENST00000395059,;TMEM265,upstream_gene_variant,,ENST00000615541,NM_001256829.1;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;RP11-2C24.9,stop_gained,p.Glu2520Ter,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,;	T	ENST00000262518	Transcript	stop_gained	8474/11754	8089/9693	2697/3230	E/*	Gag/Tag	rs144963691	1		1	SRCAP	HGNC	HGNC:16974	protein_coding	YES	CCDS10689.2	ENSP00000262518	Q6ZRS2		UPI000059D368	NM_006662.2			34/34		Low_complexity_(Seg):seg																	HIGH		SNV	2			1										PASS		rs144963691	.												T	4	4	9	30738129	30738129	G	T	1	0	0	0	0	0	1	0	0	15493	1291	45	2		2	SRCAP	16	30738129	Nonsense_Mutation	SNP	G	C3L-00094_TP	28562284	30738129	59600216	182	3316											
IRX6	0	.	GRCh38	chr16	55327610	55327610	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcagtggaattgagtggCgccggtcgccgaaagaacgc	9	5	17	10	6	0	2	0	1	0	1	1	4	0	3	2	4	1	1	2	4	3	1	rs202243145		C3L-00094_TP	C3L-00094_NB	C	C																c.438C>A	p.=	p.G146G	ENST00000290552	4/6	56	41	15	63	63	0	strelka-varscan-mutect	IRX6,synonymous_variant,p.=,ENST00000290552,NM_024335.2;RP11-26L20.4,upstream_gene_variant,,ENST00000573934,;RP11-26L20.5,upstream_gene_variant,,ENST00000637882,;RP11-26L20.3,intron_variant,,ENST00000558730,;IRX6,non_coding_transcript_exon_variant,,ENST00000558315,;	A	ENST00000290552	Transcript	synonymous_variant	1770/3128	438/1341	146/446	G	ggC/ggA	rs202243145,COSM1163124	1		1	IRX6	HGNC	HGNC:14675	protein_coding	YES	CCDS32449.1	ENSP00000290552	P78412		UPI00001C0A88	NM_024335.2			4/6		PROSITE_profiles:PS50071,hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF11,SMART_domains:SM00389											0,1						LOW	1	SNV	1		0,1	1										PASS		rs202243145	.												A	2	1	9	55327610	55327610	C	A	1	0	0	0	0	0	0	0	1	7756	755	27	1		1	IRX6	16	55327610	Silent	SNP	C	C3L-00094_TP	24589481	55327610	35010735	183	3317											
GNAO1	0	.	GRCh38	chr16	56343851	56343851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaagagatctacacccaCgtcacctgcgccacggacac	13	4	7	17	3	2	1	1	0	1	1	2	3	2	2	3	1	2	0	3	1	2	1			C3L-00094_TP	C3L-00094_NB	C	C																c.966C>A	p.His322Gln	p.H322Q	ENST00000262494	8/8	300	244	56	221	221	0	strelka-varscan-mutect	GNAO1,missense_variant,p.His322Gln,ENST00000262494,NM_138736.2;GNAO1,intron_variant,,ENST00000262493,NM_020988.2;GNAO1,intron_variant,,ENST00000568375,;GNAO1,non_coding_transcript_exon_variant,,ENST00000564798,;	A	ENST00000262494	Transcript	missense_variant	1226/5574	966/1065	322/354	H/Q	caC/caA	COSM5450865	1		1	GNAO1	HGNC	HGNC:4389	protein_coding	YES	CCDS10757.1	ENSP00000262494	P09471		UPI000007349C	NM_138736.2	deleterious(0.01)		8/8		Gene3D:3.40.50.300,Pfam_domain:PF00503,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF203,SMART_domains:SM00275,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		rs1225155824	.												A	3	1	9	56343851	56343851	C	A	1	0	0	0	0	1	0	0	0	6388	535	19	1		1	GNAO1	16	56343851	Missense_Mutation	SNP	C	C3L-00094_TP	1016241	56343851	33994494	184	3318											
CLEC18B	0	.	GRCh38	chr16	74413129	74413129	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccttcttataggggatgAttgtcttcccgttgacctcc	6	14	8	13	1	2	2	0	2	2	0	4	3	4	3	4	2	0	1	4	2	2	6	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.584T>A	p.Ile195Asn	p.I195N	ENST00000339953	5/13	1384	1225	159	1248	1247	1	strelka-varscan-mutect	CLEC18B,missense_variant,p.Ile195Asn,ENST00000617101,;CLEC18B,missense_variant,p.Ile195Asn,ENST00000619275,;CLEC18B,missense_variant,p.Ile195Asn,ENST00000339953,NM_001011880.2;CLEC18B,missense_variant,p.Ile195Asn,ENST00000620745,;CLEC18B,non_coding_transcript_exon_variant,,ENST00000425714,;CLEC18B,upstream_gene_variant,,ENST00000564842,;	T	ENST00000339953	Transcript	missense_variant	706/1865	584/1368	195/455	I/N	aTc/aAc		1		-1	CLEC18B	HGNC	HGNC:33849	protein_coding	YES	CCDS32484.1	ENSP00000341051	Q6UXF7		UPI000025210E	NM_001011880.2	deleterious(0.02)		5/13		Gene3D:3.40.33.10,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF245,Superfamily_domains:SSF55797																	MODERATE	1	SNV	1			1										PASS		rs1358827890	.												T	3	4	9	74413129	74413129	A	T	1	0	0	0	0	1	0	0	0	3269	333	12	4		4	CLEC18B	16	74413129	Missense_Mutation	SNP	A	C3L-00094_TP	18069278	74413129	15925216	185	3319											
NEURL4	0	.	GRCh38	chr17	7320826	7320826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgattgtagctggccaccCgtgtggccgtacggttccca	5	10	12	14	3	0	1	0	1	0	0	1	1	1	1	5	3	2	4	5	3	2	4	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.3458G>T	p.Arg1153Leu	p.R1153L	ENST00000399464	21/29	153	113	40	122	122	0	strelka-varscan-mutect	NEURL4,missense_variant,p.Arg1153Leu,ENST00000399464,NM_032442.2;NEURL4,missense_variant,p.Arg1151Leu,ENST00000315614,NM_001005408.1;NEURL4,missense_variant,p.Arg1129Leu,ENST00000570460,;NEURL4,missense_variant,p.Arg1116Leu,ENST00000571887,;NEURL4,upstream_gene_variant,,ENST00000574120,;NEURL4,missense_variant,p.Arg898Leu,ENST00000573186,;RP11-542C16.2,upstream_gene_variant,,ENST00000575474,;RP11-542C16.2,upstream_gene_variant,,ENST00000315601,;NEURL4,downstream_gene_variant,,ENST00000573651,;NEURL4,upstream_gene_variant,,ENST00000576794,;NEURL4,upstream_gene_variant,,ENST00000572680,;NEURL4,downstream_gene_variant,,ENST00000576966,;NEURL4,downstream_gene_variant,,ENST00000576485,;NEURL4,downstream_gene_variant,,ENST00000571508,;NEURL4,upstream_gene_variant,,ENST00000572029,;NEURL4,downstream_gene_variant,,ENST00000571243,;	A	ENST00000399464	Transcript	missense_variant	3474/5200	3458/4689	1153/1562	R/L	cGg/cTg		1		-1	NEURL4	HGNC	HGNC:34410	protein_coding	YES	CCDS42251.1	ENSP00000382390	Q96JN8		UPI000020081C	NM_032442.2	deleterious(0)		21/29		PROSITE_profiles:PS51065,hmmpanther:PTHR12429:SF14,hmmpanther:PTHR12429,Pfam_domain:PF07177,SMART_domains:SM00588																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	7320826	7320826	C	A	1	0	0	0	0	1	0	0	0	10384	652	23	1		1	NEURL4	17	7320826	Missense_Mutation	SNP	C	C3L-00094_TP		7320826	75936615	186	3320											
KCTD11	0	.	GRCh38	chr17	7352947	7352947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttcccagactctatgcTgggggccatgtttagggccg	5	10	13	13	2	1	1	0	0	1	1	2	1	2	1	4	3	1	3	4	3	2	4	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.5T>C	p.Leu2Pro	p.L2P	ENST00000333751	1/1	41	36	5	49	49	0	strelka-varscan-mutect	KCTD11,missense_variant,p.Leu2Pro,ENST00000333751,NM_001002914.2;ACAP1,downstream_gene_variant,,ENST00000158762,NM_014716.3;TMEM95,upstream_gene_variant,,ENST00000389982,NM_001320435.1,NM_001320436.1;TMEM95,upstream_gene_variant,,ENST00000330767,NM_198154.1;TMEM95,upstream_gene_variant,,ENST00000576060,;ACAP1,downstream_gene_variant,,ENST00000574499,;ACAP1,downstream_gene_variant,,ENST00000571471,;ACAP1,downstream_gene_variant,,ENST00000575415,;ACAP1,downstream_gene_variant,,ENST00000570504,;RP11-542C16.1,intron_variant,,ENST00000572417,;KCTD11,downstream_gene_variant,,ENST00000576980,;ACAP1,downstream_gene_variant,,ENST00000570439,;ACAP1,downstream_gene_variant,,ENST00000576594,;	C	ENST00000333751	Transcript	missense_variant	786/2783	5/699	2/232	L/P	cTg/cCg		1		1	KCTD11	HGNC	HGNC:21302	protein_coding	YES	CCDS32545.1	ENSP00000328352	Q693B1	A0A158RFT7	UPI00001A82F7	NM_001002914.2	deleterious(0)		1/1		hmmpanther:PTHR14499:SF7,hmmpanther:PTHR14499,Gene3D:3.30.710.10																	MODERATE		SNV				1										PASS		rs1444697069	.												C	3	2	9	7352947	7352947	T	C	1	0	0	0	0	1	0	0	0	8015	1580	55	5		5	KCTD11	17	7352947	Missense_Mutation	SNP	T	C3L-00094_TP	32121	7352947	75904494	187	3321											
CHD3	0	.	GRCh38	chr17	7910586	7910586	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcacggagcctcaccccAcaccggtaaccctctttccc	8	6	8	19	2	2	0	1	0	1	0	3	1	3	1	6	3	2	2	6	3	1	2	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.5926A>G	p.Thr1976Ala	p.T1976A	ENST00000380358	38/40	120	97	23	119	119	0	strelka-varscan-mutect	CHD3,missense_variant,p.Thr1976Ala,ENST00000380358,NM_001005271.2;CHD3,missense_variant,p.Thr1917Ala,ENST00000330494,NM_001005273.2;CHD3,missense_variant,p.Thr1883Ala,ENST00000358181,NM_005852.3;CHD3,missense_variant,p.His260Arg,ENST00000439235,;CHD3,missense_variant,p.His232Arg,ENST00000573936,;CHD3,intron_variant,,ENST00000449744,;AC025335.1,downstream_gene_variant,,ENST00000324348,;AC025335.1,downstream_gene_variant,,ENST00000635932,;SCARNA21,downstream_gene_variant,,ENST00000517026,;CHD3,3_prime_UTR_variant,,ENST00000470531,;CHD3,non_coding_transcript_exon_variant,,ENST00000481999,;CHD3,downstream_gene_variant,,ENST00000572750,;CHD3,downstream_gene_variant,,ENST00000466233,;	G	ENST00000380358	Transcript	missense_variant	5927/7356	5926/6180	1976/2059	T/A	Aca/Gca		1		1	CHD3	HGNC	HGNC:1918	protein_coding	YES	CCDS32553.2	ENSP00000369716	Q12873		UPI00004DDA7C	NM_001005271.2	tolerated(0.48)		38/40		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	9	7910586	7910586	A	G	1	0	0	0	0	1	0	0	0	3085	173	6	5		5	CHD3	17	7910586	Missense_Mutation	SNP	A	C3L-00094_TP	557639	7910586	75346855	188	3322											
MYH1	0	.	GRCh38	chr17	10501225	10501225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggttgtcaatctgctccCcaagctcggccacactatct	8	10	8	15	1	3	0	1	0	2	0	5	0	4	0	3	2	2	4	3	2	3	2	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.3623G>T	p.Gly1208Val	p.G1208V	ENST00000226207	27/40	388	284	104	380	378	2	strelka-varscan-mutect	MYH1,missense_variant,p.Gly1208Val,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000226207	Transcript	missense_variant	3718/6024	3623/5820	1208/1939	G/V	gGg/gTg		1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3	deleterious(0.02)		27/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	9	10501225	10501225	C	A	1	0	0	0	0	1	0	0	0	10029	623	22	2		2	MYH1	17	10501225	Missense_Mutation	SNP	C	C3L-00094_TP	2590639	10501225	72756216	189	3323											
CORO6	0	.	GRCh38	chr17	29615786	29615786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccagagccgtgatgcgCtgctcctgggcctgcacccg	4	9	12	16	3	1	2	0	1	1	1	3	2	2	2	5	1	4	3	5	1	0	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.1365G>T	p.Gln455His	p.Q455H	ENST00000345068	11/11	159	129	30	126	126	0	strelka-varscan-mutect	CORO6,missense_variant,p.Gln455His,ENST00000345068,;CORO6,missense_variant,p.Gln455His,ENST00000388767,NM_032854.3;CORO6,missense_variant,p.Gln415His,ENST00000580212,;CORO6,missense_variant,p.Gln454His,ENST00000584969,;ANKRD13B,downstream_gene_variant,,ENST00000394859,NM_152345.4;ANKRD13B,downstream_gene_variant,,ENST00000614878,;CORO6,downstream_gene_variant,,ENST00000492276,;CORO6,downstream_gene_variant,,ENST00000584602,;ANKRD13B,downstream_gene_variant,,ENST00000579719,;ABHD15-AS1,intron_variant,,ENST00000581474,;CORO6,downstream_gene_variant,,ENST00000577909,;CORO6,3_prime_UTR_variant,,ENST00000480954,;CORO6,non_coding_transcript_exon_variant,,ENST00000459686,;CORO6,non_coding_transcript_exon_variant,,ENST00000467534,;CORO6,non_coding_transcript_exon_variant,,ENST00000469090,;CORO6,non_coding_transcript_exon_variant,,ENST00000579388,;ANKRD13B,downstream_gene_variant,,ENST00000487527,;ANKRD13B,downstream_gene_variant,,ENST00000488766,;ANKRD13B,downstream_gene_variant,,ENST00000493506,;	A	ENST00000345068	Transcript	missense_variant	1579/2603	1365/1419	455/472	Q/H	caG/caT		1		-1	CORO6	HGNC	HGNC:21356	protein_coding	YES	CCDS11252.2	ENSP00000344562	Q6QEF8		UPI0000DA4C55		tolerated(0.07)		11/11		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF23																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	9	29615786	29615786	C	A	1	0	0	0	0	1	0	0	0	3552	796	28	2		2	CORO6	17	29615786	Missense_Mutation	SNP	C	C3L-00094_TP	19114561	29615786	53641655	190	3324											
PEX12	0	.	GRCh38	chr17	35577939	35577943	+	Frame_Shift_Del	DEL	CTGTC	CTGTC	-																															gtctcactgctgtcattaaaCtgtcctgtgctaccacctca																								novel		C3L-00094_TP	C3L-00094_NB	CTGTC	CTGTC																c.79_83delGACAG	p.Asp27PhefsTer32	p.D27Ffs*32	ENST00000613219	1/3	607	445	162	532	532	0	sindel-varindel-pindel	PEX12,frameshift_variant,p.Asp27PhefsTer32,ENST00000613219,NM_000286.2;PEX12,frameshift_variant,p.Asp27PhefsTer32,ENST00000225873,;PEX12,frameshift_variant,p.Asp27PhefsTer32,ENST00000585380,;AP2B1,upstream_gene_variant,,ENST00000589774,;RP11-1094M14.11,downstream_gene_variant,,ENST00000592381,;SNORD7,downstream_gene_variant,,ENST00000384567,;PEX12,frameshift_variant,p.Asp27PhefsTer32,ENST00000586663,;	-	ENST00000613219	Transcript	frameshift_variant	695-699/2682	79-83/1080	27-28/359	DS/X	GACAGt/t		1		-1	PEX12	HGNC	HGNC:8854	protein_coding	YES	CCDS11296.1	ENSP00000482609	O00623		UPI0000131703	NM_000286.2			1/3		hmmpanther:PTHR12888:SF0,hmmpanther:PTHR12888,Pfam_domain:PF04757,PIRSF_domain:PIRSF038074																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	9	35577939	35577939	CTGTC	-	1	0	1	0	1	0	0	0	0	11830	565	20	0		0	PEX12	17	35577939	Frame_Shift_Del	DEL	CTGTC	C3L-00094_TP	5962153	35577939	47679502	191	3325											
LRRC3C	0	.	GRCh38	chr17	39944280	39944280	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcaggggcggctttccaggGcctggagggcacattgcgcc	5	7	16	13	2	1	0	1	0	0	0	2	1	2	1	3	6	1	2	3	6	0	2	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.374G>C	p.Gly125Ala	p.G125A	ENST00000377924	2/2	133	94	39	103	103	0	strelka-varscan-mutect	LRRC3C,missense_variant,p.Gly125Ala,ENST00000377924,NM_001195545.1;RP11-387H17.4,downstream_gene_variant,,ENST00000582263,;	C	ENST00000377924	Transcript	missense_variant	424/891	374/828	125/275	G/A	gGc/gCc		1		1	LRRC3C	HGNC	HGNC:40034	protein_coding	YES	CCDS54121.1	ENSP00000367157	A6NJW4		UPI0000198ACC	NM_001195545.1	deleterious(0)		2/2		PROSITE_profiles:PS51450,hmmpanther:PTHR24369,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	3			1										PASS		rs1469635409	.												C	3	2	9	39944280	39944280	G	C	1	0	0	0	0	1	0	0	0	8892	1203	42	4		4	LRRC3C	17	39944280	Missense_Mutation	SNP	G	C3L-00094_TP	4366341	39944280	43313161	192	3326											
MPP2	0	.	GRCh38	chr17	43880697	43880697	+	Frame_Shift_Del	DEL	C	C	-																															cagctcccactcacagggcaCcgtggtgccatagcgatctg																								novel		C3L-00094_TP	C3L-00094_NB	C	C																c.1279delG	p.Val427CysfsTer72	p.V427Cfs*72	ENST00000518766	10/13	52	35	17	39	39	0	sindel-varindel	MPP2,frameshift_variant,p.Val382CysfsTer72,ENST00000612133,NM_001278381.1;MPP2,frameshift_variant,p.Val403CysfsTer72,ENST00000625880,;MPP2,frameshift_variant,p.Val382CysfsTer72,ENST00000269095,NM_005374.4;MPP2,frameshift_variant,p.Val371CysfsTer72,ENST00000536246,NM_001278375.1;MPP2,frameshift_variant,p.Val371CysfsTer72,ENST00000622681,NM_001278371.1;MPP2,frameshift_variant,p.Val399CysfsTer72,ENST00000377184,NM_001278376.2;MPP2,frameshift_variant,p.Val406CysfsTer72,ENST00000461854,NM_001278372.1;MPP2,frameshift_variant,p.Val371CysfsTer72,ENST00000523501,NM_001278373.1;MPP2,frameshift_variant,p.Val243CysfsTer72,ENST00000520305,NM_001278374.1;MPP2,frameshift_variant,p.Val427CysfsTer72,ENST00000518766,NM_001278370.1;MPP2,downstream_gene_variant,,ENST00000523220,;MPP2,downstream_gene_variant,,ENST00000473246,;MPP2,downstream_gene_variant,,ENST00000520406,;MPP2,downstream_gene_variant,,ENST00000524294,;MPP2,downstream_gene_variant,,ENST00000522172,;MPP2,downstream_gene_variant,,ENST00000523934,;MPP2,downstream_gene_variant,,ENST00000523762,;MPP2,downstream_gene_variant,,ENST00000521178,;MPP2,downstream_gene_variant,,ENST00000520241,;MPP2,downstream_gene_variant,,ENST00000520319,;	-	ENST00000518766	Transcript	frameshift_variant	1336/1896	1279/1794	427/597	V/X	Gtg/tg		1		-1	MPP2	HGNC	HGNC:7220	protein_coding	YES	CCDS62210.1	ENSP00000428182		A0A0C4DH75	UPI0001914C39	NM_001278370.1			10/13		PROSITE_profiles:PS50052,hmmpanther:PTHR23122:SF35,hmmpanther:PTHR23122,Pfam_domain:PF00625,Gene3D:3.30.63.10,SMART_domains:SM00072,Superfamily_domains:SSF52540																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	9	43880697	43880697	C	-	1	0	1	0	1	0	0	0	0	9700	507	18	0		0	MPP2	17	43880697	Frame_Shift_Del	DEL	C	C3L-00094_TP	3936417	43880697	39376744	193	3327	74	3									
MPP2	0	.	GRCh38	chr17	43880698	43880698	+	Silent	SNP	C	C	A																															agctcccactcacagggcacCgtggtgccatagcgatctgg																								rs763744497		C3L-00094_TP	C3L-00094_NB	C	C																c.1278G>T	p.=	p.T426T	ENST00000518766	10/13	56	38	18	42	42	0	strelka-mutect	MPP2,synonymous_variant,p.=,ENST00000612133,NM_001278381.1;MPP2,synonymous_variant,p.=,ENST00000625880,;MPP2,synonymous_variant,p.=,ENST00000269095,NM_005374.4;MPP2,synonymous_variant,p.=,ENST00000536246,NM_001278375.1;MPP2,synonymous_variant,p.=,ENST00000622681,NM_001278371.1;MPP2,synonymous_variant,p.=,ENST00000377184,NM_001278376.2;MPP2,synonymous_variant,p.=,ENST00000461854,NM_001278372.1;MPP2,synonymous_variant,p.=,ENST00000523501,NM_001278373.1;MPP2,synonymous_variant,p.=,ENST00000520305,NM_001278374.1;MPP2,synonymous_variant,p.=,ENST00000518766,NM_001278370.1;MPP2,downstream_gene_variant,,ENST00000523220,;MPP2,downstream_gene_variant,,ENST00000473246,;MPP2,downstream_gene_variant,,ENST00000520406,;MPP2,downstream_gene_variant,,ENST00000524294,;MPP2,downstream_gene_variant,,ENST00000522172,;MPP2,downstream_gene_variant,,ENST00000523934,;MPP2,downstream_gene_variant,,ENST00000523762,;MPP2,downstream_gene_variant,,ENST00000521178,;MPP2,downstream_gene_variant,,ENST00000520241,;MPP2,downstream_gene_variant,,ENST00000520319,;	A	ENST00000518766	Transcript	synonymous_variant	1335/1896	1278/1794	426/597	T	acG/acT	rs763744497,COSM5364308,COSM5364309	1		-1	MPP2	HGNC	HGNC:7220	protein_coding	YES	CCDS62210.1	ENSP00000428182		A0A0C4DH75	UPI0001914C39	NM_001278370.1			10/13		PROSITE_profiles:PS50052,hmmpanther:PTHR23122:SF35,hmmpanther:PTHR23122,Pfam_domain:PF00625,Gene3D:3.30.63.10,SMART_domains:SM00072,Superfamily_domains:SSF52540											0,1,1						LOW	1	SNV	2		0,1,1	1										PASS		rs763744497	.												A	2	1	9	43880698	43880698	C	A	1	0	0	0	0	0	0	0	1	9700	639	23	1		1	MPP2	17	43880698	Silent	SNP	C	C3L-00094_TP	1	43880698	39376743	194	3328	74	3									
MPP2	0	.	GRCh38	chr17	43880699	43880699	+	Missense_Mutation	SNP	G	G	A																															gctcccactcacagggcaccGtggtgccatagcgatctgga																								novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1277C>T	p.Thr426Met	p.T426M	ENST00000518766	10/13	62	43	19	42	42	0	strelka-mutect	MPP2,missense_variant,p.Thr381Met,ENST00000612133,NM_001278381.1;MPP2,missense_variant,p.Thr402Met,ENST00000625880,;MPP2,missense_variant,p.Thr381Met,ENST00000269095,NM_005374.4;MPP2,missense_variant,p.Thr370Met,ENST00000536246,NM_001278375.1;MPP2,missense_variant,p.Thr370Met,ENST00000622681,NM_001278371.1;MPP2,missense_variant,p.Thr398Met,ENST00000377184,NM_001278376.2;MPP2,missense_variant,p.Thr405Met,ENST00000461854,NM_001278372.1;MPP2,missense_variant,p.Thr370Met,ENST00000523501,NM_001278373.1;MPP2,missense_variant,p.Thr242Met,ENST00000520305,NM_001278374.1;MPP2,missense_variant,p.Thr426Met,ENST00000518766,NM_001278370.1;MPP2,downstream_gene_variant,,ENST00000523220,;MPP2,downstream_gene_variant,,ENST00000473246,;MPP2,downstream_gene_variant,,ENST00000520406,;MPP2,downstream_gene_variant,,ENST00000524294,;MPP2,downstream_gene_variant,,ENST00000522172,;MPP2,downstream_gene_variant,,ENST00000523934,;MPP2,downstream_gene_variant,,ENST00000523762,;MPP2,downstream_gene_variant,,ENST00000521178,;MPP2,downstream_gene_variant,,ENST00000520241,;MPP2,downstream_gene_variant,,ENST00000520319,;	A	ENST00000518766	Transcript	missense_variant	1334/1896	1277/1794	426/597	T/M	aCg/aTg		1		-1	MPP2	HGNC	HGNC:7220	protein_coding	YES	CCDS62210.1	ENSP00000428182		A0A0C4DH75	UPI0001914C39	NM_001278370.1	deleterious(0.05)		10/13		PROSITE_profiles:PS50052,hmmpanther:PTHR23122:SF35,hmmpanther:PTHR23122,Pfam_domain:PF00625,Gene3D:3.30.63.10,SMART_domains:SM00072,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	9	43880699	43880699	G	A	1	0	0	0	0	1	0	0	0	9700	1145	40	1		1	MPP2	17	43880699	Missense_Mutation	SNP	G	C3L-00094_TP	1	43880699	39376742	195	3329	74	3									
RNF213	0	.	GRCh38	chr17	80393464	80393464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcagtgtggaaaacagCtgctgtgctgaaatggaatc	11	11	12	7	0	1	1	1	1	1	0	3	3	1	3	0	2	4	3	0	2	4	0	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.15590C>T	p.Ala5197Val	p.A5197V	ENST00000582970	68/68	374	296	78	236	236	0	strelka-varscan-mutect	RNF213,missense_variant,p.Ala5197Val,ENST00000582970,NM_001256071.2;RNF213,missense_variant,p.Ala5246Val,ENST00000508628,;CTD-2047H16.4,intron_variant,,ENST00000575034,;CTD-2047H16.4,intron_variant,,ENST00000572151,;CTD-2047H16.4,intron_variant,,ENST00000573394,;RNF213,non_coding_transcript_exon_variant,,ENST00000427003,;RNF213,non_coding_transcript_exon_variant,,ENST00000411702,;RNF213,non_coding_transcript_exon_variant,,ENST00000560083,;RNF213,downstream_gene_variant,,ENST00000573919,;	T	ENST00000582970	Transcript	missense_variant	15733/21055	15590/15624	5197/5207	A/V	gCt/gTt		1		1	RNF213	HGNC	HGNC:14539	protein_coding	YES	CCDS58606.1	ENSP00000464087		A0A0A0MTR7	UPI00043788D6	NM_001256071.2	tolerated(0.09)		68/68		hmmpanther:PTHR22605:SF5,hmmpanther:PTHR22605																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	80393464	80393464	C	T	1	0	0	0	0	1	0	0	0	13656	797	28	3		3	RNF213	17	80393464	Missense_Mutation	SNP	C	C3L-00094_TP	36512765	80393464	2863977	196	3330											
FHOD3	0	.	GRCh38	chr18	36718399	36718400	+	Frame_Shift_Ins	INS	-	-	G																															acctttctgggtttgccgccINScccaccccctccgcccctgt																								novel		C3L-00094_TP	C3L-00094_NB	-	-																c.3101_3102insG	p.Pro1036ThrfsTer17	p.P1036Tfs*17	ENST00000590592	19/29	99	74	25	116	115	1	varindel-pindel	FHOD3,frameshift_variant,p.Pro861ThrfsTer17,ENST00000257209,NM_025135.3;FHOD3,frameshift_variant,p.Pro1036ThrfsTer17,ENST00000590592,NM_001281740.1;FHOD3,frameshift_variant,p.Pro844ThrfsTer17,ENST00000359247,NM_001281739.1;FHOD3,frameshift_variant,p.Pro622ThrfsTer17,ENST00000592930,;FHOD3,intron_variant,,ENST00000591635,;FHOD3,upstream_gene_variant,,ENST00000592128,;FHOD3,downstream_gene_variant,,ENST00000587493,;	G	ENST00000590592	Transcript	frameshift_variant	3101-3102/4869	3101-3102/4869	1034/1622	P/PX	ccc/ccGc		1		1	FHOD3	HGNC	HGNC:26178	protein_coding	YES	CCDS62418.1	ENSP00000466937	Q2V2M9		UPI0002840E0A	NM_001281740.1			19/29		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF213,Low_complexity_(Seg):seg																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	9	36718399	36718399	-	G	1	0	1	1	0	0	0	0	0	5748	623	22	0		0	FHOD3	18	36718399	Frame_Shift_Ins	INS	-	C3L-00094_TP		36718399	43654886	197	3331											
SETBP1	0	.	GRCh38	chr18	45038596	45038596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgcagttgacagtgttaCaattccaccagccccagtgt	10	9	9	13	1	0	1	0	1	0	0	1	1	1	1	5	0	3	3	5	0	2	3	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.4112C>T	p.Thr1371Ile	p.T1371I	ENST00000282030	5/6	382	343	39	400	400	0	strelka-varscan-mutect	SETBP1,missense_variant,p.Thr1371Ile,ENST00000282030,NM_015559.2;	T	ENST00000282030	Transcript	missense_variant	4408/9899	4112/4791	1371/1596	T/I	aCa/aTa		1		1	SETBP1	HGNC	HGNC:15573	protein_coding	YES	CCDS11923.2	ENSP00000282030	Q9Y6X0		UPI0000201C54	NM_015559.2	tolerated(0.2)		5/6																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	45038596	45038596	C	T	1	0	0	0	0	1	0	0	0	14406	478	17	3		3	SETBP1	18	45038596	Missense_Mutation	SNP	C	C3L-00094_TP	8320197	45038596	35334689	198	3332											
LOXHD1	0	.	GRCh38	chr18	46534344	46534344	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaactcacgtctttatcCgggaggagcctgcggatgtc	9	9	11	12	3	2	0	1	0	1	0	4	3	3	3	2	3	4	0	2	3	3	2	rs758206438		C3L-00094_TP	C3L-00094_NB	C	C																c.870G>T	p.=	p.P290P	ENST00000300591	9/24	129	84	45	103	103	0	strelka-varscan-mutect	LOXHD1,synonymous_variant,p.=,ENST00000536736,NM_144612.6;LOXHD1,synonymous_variant,p.=,ENST00000441551,;LOXHD1,synonymous_variant,p.=,ENST00000300591,NM_001145472.2;LOXHD1,synonymous_variant,p.=,ENST00000582408,;LOXHD1,synonymous_variant,p.=,ENST00000579038,NM_001308013.1;LOXHD1,synonymous_variant,p.=,ENST00000536111,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;	A	ENST00000300591	Transcript	synonymous_variant	1284/3970	870/3345	290/1114	P	ccG/ccT	rs758206438	1		-1	LOXHD1	HGNC	HGNC:26521	protein_coding	YES	CCDS45861.1	ENSP00000300591	Q8IVV2		UPI0000456B8D	NM_001145472.2			9/24		Gene3D:2.60.60.20,Pfam_domain:PF01477,PROSITE_profiles:PS50095,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF137,Superfamily_domains:SSF49723																	LOW	1	SNV	1			1										PASS		rs758206438	.												A	2	1	9	46534344	46534344	C	A	1	0	0	0	0	0	0	0	1	8801	639	23	1		1	LOXHD1	18	46534344	Silent	SNP	C	C3L-00094_TP	1495748	46534344	33838941	199	3333											
CDH7	0	.	GRCh38	chr18	65809726	65809726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcactctgatgttgataaagGagatggttccatcaaataca	14	12	8	7	0	3	3	2	2	1	1	4	4	4	3	1	2	1	2	1	2	4	4	rs867768827		C3L-00094_TP	C3L-00094_NB	G	G																c.233G>A	p.Gly78Glu	p.G78E	ENST00000397968	3/12	99	85	14	120	119	1	strelka-varscan-mutect	CDH7,missense_variant,p.Gly78Glu,ENST00000397968,NM_004361.2;CDH7,missense_variant,p.Gly78Glu,ENST00000536984,NM_001317214.1;CDH7,missense_variant,p.Gly78Glu,ENST00000323011,NM_033646.1;	A	ENST00000397968	Transcript	missense_variant	659/12231	233/2358	78/785	G/E	gGa/gAa	rs867768827,COSM1480427,COSM1480428,COSM3527192,COSM3527193	1		1	CDH7	HGNC	HGNC:1766	protein_coding	YES	CCDS11993.1	ENSP00000381058	Q9ULB5		UPI000013D269	NM_004361.2	deleterious(0.03)		3/12		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs867768827	.												A	3	1	9	65809726	65809726	G	A	1	0	0	0	0	1	0	0	0	2818	1174	41	3		3	CDH7	18	65809726	Missense_Mutation	SNP	G	C3L-00094_TP	19275382	65809726	14563559	200	3334											
STK11	0	.	GRCh38	chr19	1207064	1207065	+	Frame_Shift_Ins	INS	-	-	TG																															gctcatcggcaagtacctgaINStgggggacctgctgggggaa																								novel		C3L-00094_TP	C3L-00094_NB	-	-																c.152_153dupTG	p.Gly52TrpfsTer13	p.G52Wfs*13	ENST00000326873	1/10	295	168	127	343	343	0	sindel-varindel-pindel	STK11,frameshift_variant,p.Gly52TrpfsTer13,ENST00000586243,;STK11,frameshift_variant,p.Gly52TrpfsTer13,ENST00000326873,NM_000455.4;STK11,frameshift_variant,p.Gly52TrpfsTer13,ENST00000585851,;STK11,intron_variant,,ENST00000585748,;STK11,frameshift_variant,p.Gly52TrpfsTer13,ENST00000593219,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,upstream_gene_variant,,ENST00000586358,;HMGB2P1,downstream_gene_variant,,ENST00000591146,;	TG	ENST00000326873	Transcript	frameshift_variant	601-602/2611	151-152/1302	51/433	M/MX	atg/aTGtg		1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4			1/10		Gene3D:3.30.200.20,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	insertion	1	2		1										PASS		.	.												TG	7	5	9	1207064	1207064	-	TG	1	0	1	1	0	0	0	0	0	15664	333	12	0		0	STK11	19	1207064	Frame_Shift_Ins	INS	-	C3L-00094_TP		1207064	57410552	201	3335											
ONECUT3	0	.	GRCh38	chr19	1775300	1775300	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagatgcaggtcaccaTctcgcagcagctcggcttgg	9	7	13	12	2	2	1	1	0	1	1	4	2	2	1	1	4	3	5	1	4	1	1	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.1340T>C	p.Ile447Thr	p.I447T	ENST00000382349	2/2	170	130	40	193	193	0	strelka-varscan-mutect	ONECUT3,missense_variant,p.Ile447Thr,ENST00000382349,NM_001080488.1;	C	ENST00000382349	Transcript	missense_variant	2630/8318	1340/1485	447/494	I/T	aTc/aCc		1		1	ONECUT3	HGNC	HGNC:13399	protein_coding	YES	CCDS45900.1	ENSP00000371786	O60422		UPI000059D61D	NM_001080488.1	deleterious(0.01)		2/2		PROSITE_profiles:PS50071,hmmpanther:PTHR14057,hmmpanther:PTHR14057:SF34,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	9	1775300	1775300	T	C	1	0	0	0	0	1	0	0	0	10945	1435	50	5		5	ONECUT3	19	1775300	Missense_Mutation	SNP	T	C3L-00094_TP	568236	1775300	56842316	202	3336											
MUC16	0	.	GRCh38	chr19	8964889	8964889	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggaatgagaagcatgttCggaacttgtgacccagcctg	11	9	13	8	1	0	2	0	2	0	1	1	5	0	4	2	2	3	2	2	2	3	2	rs17000836		C3L-00094_TP	C3L-00094_NB	C	C																c.11881G>T	p.Glu3961Ter	p.E3961*	ENST00000397910	3/84	130	73	57	134	133	1	strelka-varscan-mutect	MUC16,stop_gained,p.Glu3961Ter,ENST00000397910,NM_024690.2;	A	ENST00000397910	Transcript	stop_gained	12085/43816	11881/43524	3961/14507	E/*	Gaa/Taa	rs17000836	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			HIGH	1	SNV	5			1										PASS		rs17000836	.												A	4	1	9	8964889	8964889	C	A	1	0	0	0	0	0	1	0	0	9972	893	31	1		1	MUC16	19	8964889	Nonsense_Mutation	SNP	C	C3L-00094_TP	7189589	8964889	49652727	203	3337											
GMIP	0	.	GRCh38	chr19	19637403	19637403	+	Frame_Shift_Del	DEL	G	G	-																															aactcctggaaggagaaggcGggcggcgggggcggcggggc																										C3L-00094_TP	C3L-00094_NB	G	G																c.1086delC	p.Ala363ProfsTer11	p.A363Pfs*11	ENST00000203556	11/21	40	23	17	38	38	0	sindel-varindel-pindel	GMIP,frameshift_variant,p.Ala363ProfsTer11,ENST00000203556,NM_016573.3;GMIP,frameshift_variant,p.Ala363ProfsTer11,ENST00000587238,NM_001288998.1,NM_001288999.1;GMIP,frameshift_variant,p.Ala110ProfsTer11,ENST00000593186,;GMIP,downstream_gene_variant,,ENST00000587205,;GMIP,upstream_gene_variant,,ENST00000586269,;GMIP,non_coding_transcript_exon_variant,,ENST00000587713,;GMIP,downstream_gene_variant,,ENST00000588171,;GMIP,downstream_gene_variant,,ENST00000591047,;	-	ENST00000203556	Transcript	frameshift_variant	1224/3538	1086/2913	362/970	P/X	ccC/cc	COSM4648235	1		-1	GMIP	HGNC	HGNC:24852	protein_coding	YES	CCDS12408.1	ENSP00000203556	Q9P107	A0A024R7N1	UPI0000203862	NM_016573.3			11/21		hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF16,Low_complexity_(Seg):seg,Superfamily_domains:SSF103657											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	9	19637403	19637403	G	-	1	0	1	0	1	0	0	0	0	6370	1103	39	0		0	GMIP	19	19637403	Frame_Shift_Del	DEL	G	C3L-00094_TP	10672514	19637403	38980213	204	3338											
ZNF676	0	.	GRCh38	chr19	22180587	22180587	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgtattaagggttgagAccttactaaaggctttgcca	11	14	10	6	0	0	1	0	1	0	1	0	2	0	1	2	2	2	3	2	2	6	7	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.1130T>A	p.Val377Asp	p.V377D	ENST00000397121	3/3	297	271	26	373	373	0	varscan-mutect	ZNF676,missense_variant,p.Val377Asp,ENST00000397121,NM_001001411.2;	T	ENST00000397121	Transcript	missense_variant	1448/2944	1130/1767	377/588	V/D	gTc/gAc		1		-1	ZNF676	HGNC	HGNC:20429	protein_coding	YES	CCDS42539.1	ENSP00000380310	Q8N7Q3		UPI00002376EC	NM_001001411.2	tolerated(0.17)		3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	9	22180587	22180587	A	T	1	0	0	0	0	1	0	0	0	18656	275	10	4		4	ZNF676	19	22180587	Missense_Mutation	SNP	A	C3L-00094_TP	2543184	22180587	36437029	205	3339											
TSHZ3	0	.	GRCh38	chr19	31278249	31278249	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaagcccccccttgggaCtctcttctaagtcattttca	8	14	5	14	0	5	0	3	0	2	0	6	1	5	1	3	1	1	0	3	1	3	6	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.1544G>T	p.Ser515Ile	p.S515I	ENST00000240587	2/2	324	206	118	237	236	1	strelka-varscan-mutect	TSHZ3,missense_variant,p.Ser515Ile,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;	A	ENST00000240587	Transcript	missense_variant	1872/5176	1544/3246	515/1081	S/I	aGt/aTt		1		-1	TSHZ3	HGNC	HGNC:30700	protein_coding	YES	CCDS12421.2	ENSP00000240587	Q63HK5		UPI0000202000	NM_020856.2	deleterious(0)		2/2		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	31278249	31278249	C	A	1	0	0	0	0	1	0	0	0	17130	565	20	2		2	TSHZ3	19	31278249	Missense_Mutation	SNP	C	C3L-00094_TP	9097662	31278249	27339367	206	3340											
HSPB6	0	.	GRCh38	chr19	35755602	35755602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgccctcgggggacagcgCggacgtcacggcagccggat	7	3	17	14	7	1	0	1	0	0	0	2	4	1	3	2	5	2	1	2	5	0	0	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.403G>A	p.Ala135Thr	p.A135T	ENST00000592984	4/4	152	110	42	101	101	0	strelka-varscan-mutect	HSPB6,missense_variant,p.Ala135Thr,ENST00000592984,;HSPB6,missense_variant,p.Ala135Thr,ENST00000004982,NM_144617.2;HSPB6,3_prime_UTR_variant,,ENST00000587965,;PROSER3,upstream_gene_variant,,ENST00000396908,NM_001039887.2;PROSER3,upstream_gene_variant,,ENST00000536950,;LIN37,downstream_gene_variant,,ENST00000301159,NM_019104.2;PROSER3,upstream_gene_variant,,ENST00000301165,;PROSER3,upstream_gene_variant,,ENST00000537459,;PROSER3,upstream_gene_variant,,ENST00000421853,;PROSER3,upstream_gene_variant,,ENST00000545674,;PROSER3,upstream_gene_variant,,ENST00000444637,;LIN37,downstream_gene_variant,,ENST00000591163,;PROSER3,upstream_gene_variant,,ENST00000542134,;LIN37,downstream_gene_variant,,ENST00000587751,;AC002398.11,upstream_gene_variant,,ENST00000591091,;AC002398.12,downstream_gene_variant,,ENST00000587767,;PROSER3,upstream_gene_variant,,ENST00000544876,;LIN37,downstream_gene_variant,,ENST00000591076,;PROSER3,upstream_gene_variant,,ENST00000620918,;PROSER3,upstream_gene_variant,,ENST00000600988,;LIN37,downstream_gene_variant,,ENST00000595455,;LIN37,downstream_gene_variant,,ENST00000587108,;LIN37,downstream_gene_variant,,ENST00000590706,;AC002398.9,downstream_gene_variant,,ENST00000591613,;PROSER3,upstream_gene_variant,,ENST00000601095,;LIN37,downstream_gene_variant,,ENST00000590890,;LIN37,downstream_gene_variant,,ENST00000592871,;PROSER3,upstream_gene_variant,,ENST00000539771,;	T	ENST00000592984	Transcript	missense_variant	600/1634	403/483	135/160	A/T	Gcg/Acg		1		-1	HSPB6	HGNC	HGNC:26511	protein_coding	YES	CCDS12475.1	ENSP00000468057	O14558	V9HWB6	UPI000012CCD5		tolerated(0.1)		4/4		Gene3D:2.60.40.790,Pfam_domain:PF00011,Prints_domain:PR00299,PROSITE_profiles:PS01031,hmmpanther:PTHR11527,hmmpanther:PTHR11527:SF109,Superfamily_domains:SSF49764																	MODERATE		SNV	4			1										PASS		.	.												T	3	4	9	35755602	35755602	C	T	1	0	0	0	0	1	0	0	0	7318	768	27	1		1	HSPB6	19	35755602	Missense_Mutation	SNP	C	C3L-00094_TP	4477353	35755602	22862014	207	3341											
ARHGAP33	0	.	GRCh38	chr19	35784220	35784220	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggcgcggcggcgttccgGgaagttcgggtgcagtcggt	3	8	21	9	7	0	0	0	0	0	0	3	1	1	1	1	7	1	3	1	7	1	2	rs745495013		C3L-00094_TP	C3L-00094_NB	G	G																c.1470G>T	p.=	p.R490R	ENST00000314737	16/21	146	106	40	97	97	0	strelka-varscan-mutect	ARHGAP33,synonymous_variant,p.=,ENST00000378944,NM_001172630.1;ARHGAP33,synonymous_variant,p.=,ENST00000314737,NM_052948.3;ARHGAP33,synonymous_variant,p.=,ENST00000587447,;ARHGAP33,synonymous_variant,p.=,ENST00000007510,;ARHGAP33,synonymous_variant,p.=,ENST00000588248,;ARHGAP33,non_coding_transcript_exon_variant,,ENST00000591438,;LINC01529,downstream_gene_variant,,ENST00000637421,;LINC01529,downstream_gene_variant,,ENST00000433059,;LINC01529,downstream_gene_variant,,ENST00000637365,;ARHGAP33,downstream_gene_variant,,ENST00000221905,;ARHGAP33,non_coding_transcript_exon_variant,,ENST00000601474,;ARHGAP33,upstream_gene_variant,,ENST00000593034,;ARHGAP33,upstream_gene_variant,,ENST00000587984,;ARHGAP33,downstream_gene_variant,,ENST00000590893,;ARHGAP33,downstream_gene_variant,,ENST00000586918,;LINC01529,downstream_gene_variant,,ENST00000636474,;	T	ENST00000314737	Transcript	synonymous_variant	1554/3858	1470/3381	490/1126	R	cgG/cgT	rs745495013	1		1	ARHGAP33	HGNC	HGNC:23085	protein_coding	YES	CCDS12477.1	ENSP00000320038	O14559		UPI000013F8F9	NM_052948.3			16/21		PROSITE_profiles:PS50238,hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF11,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350																	LOW	1	SNV	2			1										PASS		rs745495013	.												T	2	4	9	35784220	35784220	G	T	1	0	0	0	0	0	0	0	1	1007	1219	43	2		2	ARHGAP33	19	35784220	Silent	SNP	G	C3L-00094_TP	28618	35784220	22833396	208	3342											
RYR1	0	.	GRCh38	chr19	38516212	38516212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccaagtctccgcgggagcGggccagtaagctgtgtgggg	7	6	17	11	3	1	0	0	0	1	0	2	1	1	1	3	4	2	2	3	4	2	1	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.9680G>T	p.Arg3227Leu	p.R3227L	ENST00000359596	65/106	251	178	73	152	152	0	strelka-varscan-mutect	RYR1,missense_variant,p.Arg3227Leu,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Arg3227Leu,ENST00000359596,NM_000540.2;RYR1,missense_variant,p.Arg163Leu,ENST00000599547,;RYR1,3_prime_UTR_variant,,ENST00000594335,;	T	ENST00000359596	Transcript	missense_variant	9680/15117	9680/15117	3227/5038	R/L	cGg/cTg		1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2	deleterious(0.04)		65/106		hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715																	MODERATE	1	SNV	5			1										PASS		rs878984852	.												T	3	4	9	38516212	38516212	G	T	1	0	0	0	0	1	0	0	0	14028	1130	39	1		1	RYR1	19	38516212	Missense_Mutation	SNP	G	C3L-00094_TP	2731992	38516212	20101404	209	3343											
SPTBN4	0	.	GRCh38	chr19	40534323	40534323	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacctggccactgtcaacAgtcagctcaagaagctgcag	12	6	11	12	0	3	2	3	0	0	2	3	3	3	2	2	1	4	3	2	1	3	0	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.4339A>T	p.Ser1447Cys	p.S1447C	ENST00000352632	20/36	179	123	56	132	132	0	strelka-varscan-mutect	SPTBN4,missense_variant,p.Ser1447Cys,ENST00000338932,;SPTBN4,missense_variant,p.Ser1447Cys,ENST00000352632,;SPTBN4,missense_variant,p.Ser1447Cys,ENST00000392025,;SPTBN4,missense_variant,p.Ser1447Cys,ENST00000598249,NM_020971.2;SPTBN4,missense_variant,p.Ser1447Cys,ENST00000595535,;SPTBN4,missense_variant,p.Ser123Cys,ENST00000392023,NM_025213.2;SPTBN4,3_prime_UTR_variant,,ENST00000597389,;SPTBN4,non_coding_transcript_exon_variant,,ENST00000596900,;SPTBN4,non_coding_transcript_exon_variant,,ENST00000593932,;	T	ENST00000352632	Transcript	missense_variant	4425/8676	4339/7695	1447/2564	S/C	Agt/Tgt		1		1	SPTBN4	HGNC	HGNC:14896	protein_coding	YES	CCDS12559.1	ENSP00000263373	Q9H254		UPI0000135DBB		tolerated(0.13)		20/36		Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF232,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	9	40534323	40534323	A	T	1	0	0	0	0	1	0	0	0	15477	188	7	4		4	SPTBN4	19	40534323	Missense_Mutation	SNP	A	C3L-00094_TP	2018111	40534323	18083293	210	3344											
PSG6	0	.	GRCh38	chr19	42916165	42916165	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatccagttactcctccagtCccatcgcctcgctttatgat	7	14	5	15	2	0	1	0	1	0	0	6	1	4	1	5	0	1	2	5	0	3	4	rs565072082		C3L-00094_TP	C3L-00094_NB	C	C																c.387G>T	p.=	p.G129G	ENST00000292125	2/6	192	132	60	135	135	0	strelka-varscan-mutect	PSG6,synonymous_variant,p.=,ENST00000601833,;PSG6,synonymous_variant,p.=,ENST00000187910,NM_001031850.3;PSG6,synonymous_variant,p.=,ENST00000402603,;PSG6,synonymous_variant,p.=,ENST00000292125,NM_002782.4;PSG7,intron_variant,,ENST00000617049,;PSG6,intron_variant,,ENST00000594375,;PSG6,non_coding_transcript_exon_variant,,ENST00000402456,;PSG6,non_coding_transcript_exon_variant,,ENST00000595062,;PSG6,intron_variant,,ENST00000484292,;	A	ENST00000292125	Transcript	synonymous_variant	432/1391	387/1308	129/435	G	ggG/ggT	rs565072082	1		-1	PSG6	HGNC	HGNC:9523	protein_coding	YES	CCDS12613.1	ENSP00000292125	Q00889		UPI00001327A1	NM_002782.4			2/6		Low_complexity_(Seg):seg,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF669,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs565072082	.												A	2	1	9	42916165	42916165	C	A	1	0	0	0	0	0	0	0	1	12810	842	30	2		2	PSG6	19	42916165	Silent	SNP	C	C3L-00094_TP	2381842	42916165	15701451	211	3345											
SLC8A2	0	.	GRCh38	chr19	47465744	47465744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcacctggaccacaccgggGgaaaaaacagcaaggatgag	15	3	12	11	1	1	1	1	1	0	0	1	4	1	4	3	4	2	1	3	4	4	0	rs769251136		C3L-00094_TP	C3L-00094_NB	G	G																c.660C>T	p.=	p.S220S	ENST00000236877	2/10	106	65	41	84	83	1	strelka-varscan-mutect	SLC8A2,synonymous_variant,p.=,ENST00000236877,NM_015063.2;SLC8A2,synonymous_variant,p.=,ENST00000594353,;SLC8A2,synonymous_variant,p.=,ENST00000597014,;SLC8A2,intron_variant,,ENST00000542837,;SLC8A2,intron_variant,,ENST00000539381,;	A	ENST00000236877	Transcript	synonymous_variant	1056/5234	660/2766	220/921	S	tcC/tcT	rs769251136,COSM4504288	1		-1	SLC8A2	HGNC	HGNC:11069	protein_coding	YES	CCDS33065.1	ENSP00000236877	Q9UPR5		UPI000012FC49	NM_015063.2			2/10		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF8,TIGRFAM_domain:TIGR00845,Pfam_domain:PF01699											0,1						LOW	1	SNV	1		0,1	1										PASS		rs769251136	.												A	2	1	9	47465744	47465744	G	A	1	0	0	0	0	0	0	0	1	14990	1219	43	3		3	SLC8A2	19	47465744	Silent	SNP	G	C3L-00094_TP	4549579	47465744	11151872	212	3346											
ZNF541	0	.	GRCh38	chr19	47544278	47544278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagccggagaatcgcggggCcctggggttgcccaagagcc	8	4	17	12	3	0	2	0	0	0	2	1	4	0	2	4	5	3	1	4	5	3	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.2251G>A	p.Ala751Thr	p.A751T	ENST00000391901	3/15	523	354	169	319	319	0	strelka-varscan-mutect	ZNF541,missense_variant,p.Ala751Thr,ENST00000314121,;ZNF541,missense_variant,p.Ala751Thr,ENST00000391901,NM_001277075.1;ZNF541,missense_variant,p.Ala329Thr,ENST00000595558,;ZNF541,missense_variant,p.Ala342Thr,ENST00000263351,;ZNF541,upstream_gene_variant,,ENST00000487275,;	T	ENST00000391901	Transcript	missense_variant	2251/4580	2251/4041	751/1346	A/T	Gcc/Acc		1		-1	ZNF541	HGNC	HGNC:25294	protein_coding	YES	CCDS46133.2	ENSP00000375770	Q9H0D2		UPI0000E5A21D	NM_001277075.1	deleterious(0.03)		3/15		hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF23																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	9	47544278	47544278	C	T	1	0	0	0	0	1	0	0	0	18549	739	26	3		3	ZNF541	19	47544278	Missense_Mutation	SNP	C	C3L-00094_TP	78534	47544278	11073338	213	3347											
C19orf68	0	.	GRCh38	chr19	48195016	48195017	+	Frame_Shift_Del	DEL	CG	CG	-																															gcgcgcgcgtgcagatctgcCgcgcgcagggcctggagacg																								novel		C3L-00094_TP	C3L-00094_NB	CG	CG																c.957_958delGC	p.Gln320GlyfsTer137	p.Q320Gfs*137	ENST00000614654	4/4	76	71	5	61	61	0	varindel-pindel	C19orf68,frameshift_variant,p.Gln320GlyfsTer137,ENST00000614654,NM_199341.3;C19orf68,frameshift_variant,p.Gln320GlyfsTer137,ENST00000328759,;ZNF114,intron_variant,,ENST00000597695,NM_001301062.1;CARD8,intron_variant,,ENST00000600800,;CTC-453G23.7,downstream_gene_variant,,ENST00000623064,;	-	ENST00000614654	Transcript	frameshift_variant	984-985/3588	952-953/2763	318/920	R/X	CGc/c		1		1	C19orf68	HGNC	HGNC:34495	protein_coding	YES	CCDS74411.1	ENSP00000480314		A0A087WWL5	UPI000387AD70	NM_199341.3			4/4																			HIGH	1	deletion	5	5		1										PASS		.	.												-	7	5	9	48195016	48195016	CG	-	1	0	1	0	1	0	0	0	0	1922	652	23	0		0	C19orf68	19	48195016	Frame_Shift_Del	DEL	CG	C3L-00094_TP	650738	48195016	10422600	214	3348											
IZUMO1	0	.	GRCh38	chr19	48742269	48742269	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagtttaactcacagtcCaggatcatgtcttccatttg	9	14	7	11	0	3	0	2	0	1	0	5	1	5	1	3	1	2	1	3	1	1	4	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.540G>A	p.=	p.L180L	ENST00000332955	7/10	240	190	50	196	196	0	strelka-varscan-mutect	IZUMO1,synonymous_variant,p.=,ENST00000332955,NM_182575.2;RASIP1,upstream_gene_variant,,ENST00000222145,NM_017805.2;RASIP1,upstream_gene_variant,,ENST00000599291,;IZUMO1,downstream_gene_variant,,ENST00000602105,;RASIP1,upstream_gene_variant,,ENST00000594232,;IZUMO1,missense_variant,p.Gly193Arg,ENST00000595937,NM_001321865.1;IZUMO1,3_prime_UTR_variant,,ENST00000595517,;IZUMO1,downstream_gene_variant,,ENST00000597553,;IZUMO1,upstream_gene_variant,,ENST00000599871,;	T	ENST00000332955	Transcript	synonymous_variant	1088/1621	540/1053	180/350	L	ctG/ctA		1		-1	IZUMO1	HGNC	HGNC:28539	protein_coding	YES	CCDS12732.1	ENSP00000327786	Q8IYV9		UPI00001609C7	NM_182575.2			7/10		hmmpanther:PTHR35540,hmmpanther:PTHR35540:SF1,Gene3D:2.60.40.10,Pfam_domain:PF16706,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	9	48742269	48742269	C	T	1	0	0	0	0	0	0	0	1	7839	581	21	3		3	IZUMO1	19	48742269	Silent	SNP	C	C3L-00094_TP	547253	48742269	9875347	215	3349											
IGLON5	0	.	GRCh38	chr19	51326874	51326874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaactcggcgcccgacagcCgccgcgtgctggtcacagtc	6	7	12	16	6	1	0	1	0	0	0	3	1	1	0	3	2	3	1	3	2	1	1	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.622C>A	p.Arg208Ser	p.R208S	ENST00000270642	5/8	395	278	117	255	255	0	strelka-varscan-mutect	IGLON5,missense_variant,p.Arg208Ser,ENST00000270642,NM_001101372.1;VSIG10L,downstream_gene_variant,,ENST00000335624,NM_001163922.1;VSIG10L,downstream_gene_variant,,ENST00000600663,;	A	ENST00000270642	Transcript	missense_variant	622/2606	622/1011	208/336	R/S	Cgc/Agc		1		1	IGLON5	HGNC	HGNC:34550	protein_coding	YES	CCDS46158.1	ENSP00000270642	A6NGN9		UPI000058F1A8	NM_001101372.1	deleterious(0)		5/8		PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF148,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs1361591491	.												A	3	1	9	51326874	51326874	C	A	1	0	0	0	0	1	0	0	0	7502	652	23	1		1	IGLON5	19	51326874	Missense_Mutation	SNP	C	C3L-00094_TP	2584605	51326874	7290742	216	3350											
CEACAM18	0	.	GRCh38	chr19	51480504	51480504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggaaacatgattatcaGccacaaaccgcccagtgccc	13	5	8	15	2	1	1	1	1	0	0	1	2	1	2	4	1	4	1	4	1	3	1			C3L-00094_TP	C3L-00094_NB	G	G																c.224G>T	p.Ser75Ile	p.S75I	ENST00000396477	2/6	528	367	161	335	333	2	strelka-varscan-mutect	CEACAM18,missense_variant,p.Ser75Ile,ENST00000396477,NM_001278392.1;	T	ENST00000396477	Transcript	missense_variant	245/1476	224/1155	75/384	S/I	aGc/aTc	COSM1000038,COSM1000039	1		1	CEACAM18	HGNC	HGNC:31949	protein_coding	YES		ENSP00000379738	A8MTB9		UPI0002C5E52C	NM_001278392.1	deleterious(0)		2/6		Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	9	51480504	51480504	G	T	1	0	0	0	0	1	0	0	0	2895	971	34	2		2	CEACAM18	19	51480504	Missense_Mutation	SNP	G	C3L-00094_TP	153630	51480504	7137112	217	3351											
ERVV-1	0	.	GRCh38	chr19	53015439	53015439	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctgtgaagtctgcccTcccctccctcacatggtttg	5	11	11	14	0	2	1	1	1	1	0	4	2	4	2	4	3	1	2	4	3	1	1	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.1349T>A	p.Leu450His	p.L450H	ENST00000602168	1/1	65	46	19	51	51	0	strelka-varscan-mutect	ERVV-1,missense_variant,p.Leu450His,ENST00000602168,NM_152473.2;CTD-2620I22.3,downstream_gene_variant,,ENST00000596769,;ZNF702P,intron_variant,,ENST00000600425,;ZNF702P,intron_variant,,ENST00000594516,;	A	ENST00000602168	Transcript	missense_variant	1519/2202	1349/1434	450/477	L/H	cTc/cAc		1		1	ERVV-1	HGNC	HGNC:26501	protein_coding	YES	CCDS59419.1	ENSP00000473153	B6SEH8	M9QQA5	UPI00018258B8	NM_152473.2	deleterious(0)		1/1		hmmpanther:PTHR10424:SF8,hmmpanther:PTHR10424																	MODERATE		SNV				1										PASS		.	.												A	3	1	9	53015439	53015439	T	A	1	0	0	0	0	1	0	0	0	5106	1551	54	4		4	ERVV-1	19	53015439	Missense_Mutation	SNP	T	C3L-00094_TP	1534935	53015439	5602177	218	3352											
ZNF677	0	.	GRCh38	chr19	53237967	53237967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctaatgtgtgttctccCatactgtgtatgtaataaag	10	17	7	7	0	2	0	0	0	2	0	4	0	2	0	1	0	1	3	1	0	6	7	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.760G>T	p.Gly254Trp	p.G254W	ENST00000598513	5/5	174	127	47	164	164	0	strelka-varscan-mutect	ZNF677,missense_variant,p.Gly254Trp,ENST00000598513,NM_001317998.1,NM_182609.2;ZNF677,missense_variant,p.Gly254Trp,ENST00000333952,;ZNF677,downstream_gene_variant,,ENST00000594681,;ZNF677,downstream_gene_variant,,ENST00000599012,;ZNF677,downstream_gene_variant,,ENST00000598806,;ZNF677,downstream_gene_variant,,ENST00000594517,;CTD-2245F17.6,upstream_gene_variant,,ENST00000596041,;ZNF677,downstream_gene_variant,,ENST00000599328,;ZNF677,downstream_gene_variant,,ENST00000593539,;	A	ENST00000598513	Transcript	missense_variant	911/3497	760/1755	254/584	G/W	Ggg/Tgg		1		-1	ZNF677	HGNC	HGNC:28730	protein_coding	YES	CCDS12861.1	ENSP00000469391	Q86XU0		UPI000017DF85	NM_001317998.1,NM_182609.2	deleterious(0.02)		5/5		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF38																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	53237967	53237967	C	A	1	0	0	0	0	1	0	0	0	18657	594	21	2		2	ZNF677	19	53237967	Missense_Mutation	SNP	C	C3L-00094_TP	222528	53237967	5379649	219	3353											
CACNG8	0	.	GRCh38	chr19	53982342	53982342	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtggcgggagcggcccCtcggccatcctccgtctgcc	3	6	15	17	4	1	0	0	0	1	0	4	1	3	1	6	5	2	1	6	5	0	0	rs762479578		C3L-00094_TP	C3L-00094_NB	C	C																c.771C>A	p.=	p.P257P	ENST00000270458	4/4	524	485	39	428	428	0	strelka-varscan-mutect	CACNG8,synonymous_variant,p.=,ENST00000270458,NM_031895.5;CACNG8,non_coding_transcript_exon_variant,,ENST00000401179,;	A	ENST00000270458	Transcript	synonymous_variant	874/8747	771/1278	257/425	P	ccC/ccA	rs762479578	1		1	CACNG8	HGNC	HGNC:13628	protein_coding	YES	CCDS33104.1	ENSP00000270458	Q8WXS5		UPI000013D88B	NM_031895.5			4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR12107:SF2,hmmpanther:PTHR12107																	LOW	1	SNV	1			1										PASS		rs762479578	.												A	2	1	9	53982342	53982342	C	A	1	0	0	0	0	0	0	0	1	2251	668	24	2		2	CACNG8	19	53982342	Silent	SNP	C	C3L-00094_TP	744375	53982342	4635274	220	3354											
NCR1	0	.	GRCh38	chr19	54909455	54909455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcccacagagggacataccGatgttttggctcctataaca	12	9	9	11	1	0	1	0	0	0	1	1	3	1	2	3	2	3	2	3	2	3	5	rs772041783		C3L-00094_TP	C3L-00094_NB	G	G																c.566G>A	p.Arg189Gln	p.R189Q	ENST00000291890	4/7	239	209	30	191	191	0	strelka-varscan-mutect	NCR1,missense_variant,p.Arg189Gln,ENST00000594765,NM_001145457.2;NCR1,missense_variant,p.Arg189Gln,ENST00000291890,NM_004829.6;NCR1,missense_variant,p.Arg177Gln,ENST00000598576,;NCR1,missense_variant,p.Arg189Gln,ENST00000338835,NM_001145458.2,NM_001242357.2;NCR1,missense_variant,p.Arg94Gln,ENST00000350790,NM_001242356.2;NCR1,missense_variant,p.Arg82Gln,ENST00000357397,;NCR1,downstream_gene_variant,,ENST00000601137,;NCR1,downstream_gene_variant,,ENST00000601903,;	A	ENST00000291890	Transcript	missense_variant	604/1155	566/915	189/304	R/Q	cGa/cAa	rs772041783	1		1	NCR1	HGNC	HGNC:6731	protein_coding	YES	CCDS12911.1	ENSP00000291890		A0A0A0MQZ0	UPI00034F23C0	NM_004829.6	deleterious(0)		4/7		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF14,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs772041783	.												A	3	1	9	54909455	54909455	G	A	1	0	0	0	0	1	0	0	0	10256	1058	37	1		1	NCR1	19	54909455	Missense_Mutation	SNP	G	C3L-00094_TP	927113	54909455	3708161	221	3355											
ZIM3	0	.	GRCh38	chr19	57138517	57138517	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccagcatcacatccctgtAcaagtttctctgttcgggat	8	13	7	13	1	2	0	1	0	1	0	6	1	4	1	2	1	2	4	2	1	2	3			C3L-00094_TP	C3L-00094_NB	A	A																c.97T>A	p.Tyr33Asn	p.Y33N	ENST00000269834	3/5	355	243	112	247	247	0	strelka-varscan-mutect	ZIM3,missense_variant,p.Tyr33Asn,ENST00000269834,NM_052882.1;	T	ENST00000269834	Transcript	missense_variant	483/2627	97/1419	33/472	Y/N	Tac/Aac	COSM341169	1		-1	ZIM3	HGNC	HGNC:16366	protein_coding	YES	CCDS33125.1	ENSP00000269834	Q96PE6		UPI000013C3E0	NM_052882.1	deleterious(0)		3/5		PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF30,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637											1						MODERATE	1	SNV	1		1	1										PASS		rs1277834317	.												T	3	4	9	57138517	57138517	A	T	1	0	0	0	0	1	0	0	0	18263	391	14	4		4	ZIM3	19	57138517	Missense_Mutation	SNP	A	C3L-00094_TP	2229062	57138517	1479099	222	3356											
XKR7	0	.	GRCh38	chr20	31968537	31968537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgactactcggagcccgcagGgtccccgggacccgccgtca	6	4	13	18	6	1	0	1	0	0	0	3	3	2	2	5	3	2	1	5	3	1	1	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.362G>A	p.Gly121Glu	p.G121E	ENST00000562532	1/3	164	108	56	95	95	0	strelka-varscan-mutect	XKR7,missense_variant,p.Gly121Glu,ENST00000562532,NM_001011718.1;RP1-310O13.13,upstream_gene_variant,,ENST00000616850,;	A	ENST00000562532	Transcript	missense_variant	536/7844	362/1740	121/579	G/E	gGg/gAg		1		1	XKR7	HGNC	HGNC:23062	protein_coding	YES	CCDS33459.1	ENSP00000477059	Q5GH72		UPI00004C7A9E	NM_001011718.1	tolerated(0.39)		1/3		Pfam_domain:PF09815																	MODERATE	1	SNV	1			1										PASS		rs920686009	.												A	3	1	9	31968537	31968537	G	A	1	0	0	0	0	1	0	0	0	17995	1232	43	3		3	XKR7	20	31968537	Missense_Mutation	SNP	G	C3L-00094_TP		31968537	32475630	223	3357											
NCOA6	0	.	GRCh38	chr20	34727406	34727406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactatctctttgggctcacTgctgacagagggaagcaaaa	13	9	10	9	0	2	2	1	1	1	1	3	3	2	3	0	2	3	3	0	2	5	2	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.6001A>G	p.Ser2001Gly	p.S2001G	ENST00000374796	15/16	157	98	59	117	117	0	strelka-varscan-mutect	NCOA6,missense_variant,p.Ser2001Gly,ENST00000374796,NM_001318240.1;NCOA6,missense_variant,p.Ser2001Gly,ENST00000359003,NM_014071.3;NCOA6,missense_variant,p.Ser1008Gly,ENST00000612493,NM_001242539.1;NCOA6,missense_variant,p.Ser138Gly,ENST00000628752,;NCOA6,splice_region_variant,,ENST00000471897,;	C	ENST00000374796	Transcript	missense_variant,splice_region_variant	8572/9311	6001/6192	2001/2063	S/G	Agt/Ggt		1		-1	NCOA6	HGNC	HGNC:15936	protein_coding	YES	CCDS13241.1	ENSP00000363929	Q14686		UPI000013C634	NM_001318240.1	tolerated_low_confidence(0.22)		15/16		hmmpanther:PTHR15690,hmmpanther:PTHR15690:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	9	34727406	34727406	T	C	1	0	0	0	0	1	0	0	0	10252	1594	55	5		5	NCOA6	20	34727406	Missense_Mutation	SNP	T	C3L-00094_TP	2758869	34727406	29716761	224	3358											
SEMG2	0	.	GRCh38	chr20	45222741	45222741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcatccagaaaggtgtatCcaaaggcagtatttcgatcc	12	9	11	9	1	0	1	0	0	0	1	4	2	3	1	3	3	0	4	3	3	4	3	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.1109C>A	p.Ser370Tyr	p.S370Y	ENST00000372769	2/3	329	278	51	302	301	1	strelka-varscan-mutect	SEMG2,missense_variant,p.Ser370Tyr,ENST00000372769,NM_003008.2;	A	ENST00000372769	Transcript	missense_variant	1199/2051	1109/1749	370/582	S/Y	tCc/tAc		1		1	SEMG2	HGNC	HGNC:10743	protein_coding	YES	CCDS13346.1	ENSP00000361855	Q02383		UPI0000135845	NM_003008.2	tolerated(0.27)		2/3		Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	45222741	45222741	C	A	1	0	0	0	0	1	0	0	0	14321	855	30	2		2	SEMG2	20	45222741	Missense_Mutation	SNP	C	C3L-00094_TP	10495335	45222741	19221426	225	3359											
PREX1	0	.	GRCh38	chr20	48690980	48690980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgctcgcggatgatggcatCcagccacttctgcttctcct	5	11	9	16	3	2	1	0	1	2	0	5	2	3	2	4	2	2	3	4	2	0	2	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.1153G>T	p.Asp385Tyr	p.D385Y	ENST00000371941	9/40	262	247	15	179	179	0	strelka-varscan-mutect	PREX1,missense_variant,p.Asp385Tyr,ENST00000371941,NM_020820.3;PREX1,downstream_gene_variant,,ENST00000620554,;	A	ENST00000371941	Transcript	missense_variant	1176/6636	1153/4980	385/1659	D/Y	Gat/Tat		1		-1	PREX1	HGNC	HGNC:32594	protein_coding	YES	CCDS13410.1	ENSP00000361009	Q8TCU6		UPI000013D375	NM_020820.3	deleterious(0)		9/40		PROSITE_profiles:PS50003,hmmpanther:PTHR22829:SF6,hmmpanther:PTHR22829,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	48690980	48690980	C	A	1	0	0	0	0	1	0	0	0	12610	855	30	2		2	PREX1	20	48690980	Missense_Mutation	SNP	C	C3L-00094_TP	3468239	48690980	15753187	226	3360											
BCAS1	0	.	GRCh38	chr20	53953555	53953555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcactgggctggttctttGgcttcctgcttgttgctctt	1	18	12	10	0	2	0	0	0	2	0	3	0	3	0	1	3	3	7	1	3	0	6	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1557C>T	p.=	p.A519A	ENST00000395961	11/12	666	494	172	512	512	0	strelka-varscan-mutect	BCAS1,synonymous_variant,p.=,ENST00000448484,;BCAS1,synonymous_variant,p.=,ENST00000395961,NM_003657.2;BCAS1,synonymous_variant,p.=,ENST00000371435,NM_001316361.2,NM_001323347.1;BCAS1,synonymous_variant,p.=,ENST00000422805,;	A	ENST00000395961	Transcript	synonymous_variant	1724/3303	1557/1755	519/584	A	gcC/gcT		1		-1	BCAS1	HGNC	HGNC:974	protein_coding	YES	CCDS13444.1	ENSP00000379290	O75363		UPI000013D2E2	NM_003657.2			11/12		hmmpanther:PTHR15016																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	9	53953555	53953555	G	A	1	0	0	0	0	0	0	0	1	1497	1335	47	3		3	BCAS1	20	53953555	Silent	SNP	G	C3L-00094_TP	5262575	53953555	10490612	227	3361											
TFAP2C	0	.	GRCh38	chr20	56634149	56634149	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatttttctttttcttaGagccaaatcgaaaaatggag	13	15	7	6	1	3	1	1	0	2	1	4	3	3	2	1	1	1	0	1	1	5	5	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.804-1G>T		p.X268_splice	ENST00000201031		197	186	11	149	147	2	varscan-mutect	TFAP2C,splice_acceptor_variant,,ENST00000201031,NM_003222.3;TFAP2C,downstream_gene_variant,,ENST00000416606,;	T	ENST00000201031	Transcript	splice_acceptor_variant	-/2866	804/1353	268/450				1		1	TFAP2C	HGNC	HGNC:11744	protein_coding	YES	CCDS13454.1	ENSP00000201031	Q92754		UPI0000125BC8	NM_003222.3				4/6																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	9	56634149	56634149	G	T	1	0	0	0	0	0	0	1	0	16222	956	33	2		2	TFAP2C	20	56634149	Splice_Site	SNP	G	C3L-00094_TP	2680594	56634149	7810018	228	3362											
ZNF831	0	.	GRCh38	chr20	59194281	59194281	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcactttggcaagggccAggctctctggggatgtcctg	6	9	15	11	0	1	0	0	0	1	0	3	1	2	1	2	5	1	4	2	5	1	1	novel		C3L-00094_TP	C3L-00094_NB	A	A																c.3262A>T	p.Arg1088Trp	p.R1088W	ENST00000637017	4/8	273	191	82	201	201	0	strelka-varscan-mutect	ZNF831,missense_variant,p.Arg1088Trp,ENST00000637017,;ZNF831,missense_variant,p.Arg1088Trp,ENST00000371030,NM_178457.2;	T	ENST00000637017	Transcript	missense_variant	4811/10953	3262/5034	1088/1677	R/W	Agg/Tgg		1		1	ZNF831	HGNC	HGNC:16167	protein_coding	YES	CCDS42894.1	ENSP00000490240			UPI00001D82E4		deleterious(0.01)		4/8																			MODERATE	1	SNV				1										PASS		.	.												T	3	4	9	59194281	59194281	A	T	1	0	0	0	0	1	0	0	0	18770	179	7	4		4	ZNF831	20	59194281	Missense_Mutation	SNP	A	C3L-00094_TP	2560132	59194281	5249886	229	3363											
COL9A3	0	.	GRCh38	chr20	62821507	62821507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccatgtttggctttgcagGgcaaaggcctccctggaccc	6	9	11	15	0	0	0	0	0	0	0	1	1	1	1	5	4	1	4	5	4	1	2	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.346G>T	p.Gly116Cys	p.G116C	ENST00000343916	7/32	488	359	129	341	341	0	strelka-varscan-mutect	COL9A3,missense_variant,p.Gly116Cys,ENST00000343916,NM_001853.3;COL9A3,missense_variant,p.Gly79Cys,ENST00000452372,;COL9A3,splice_region_variant,,ENST00000489045,;COL9A3,splice_region_variant,,ENST00000477612,;COL9A3,upstream_gene_variant,,ENST00000463487,;	T	ENST00000343916	Transcript	missense_variant,splice_region_variant	349/2485	346/2055	116/684	G/C	Ggc/Tgc		1		1	COL9A3	HGNC	HGNC:2219	protein_coding	YES	CCDS13505.1	ENSP00000341640	Q14050		UPI0000126D51	NM_001853.3	deleterious(0.01)		7/32		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF529,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1362214057	.												T	3	4	9	62821507	62821507	G	T	1	0	0	0	0	1	0	0	0	3498	1246	43	2		2	COL9A3	20	62821507	Missense_Mutation	SNP	G	C3L-00094_TP	3627226	62821507	1622660	230	3364											
DIDO1	0	.	GRCh38	chr20	62894153	62894154	+	Frame_Shift_Ins	INS	-	-	T																															acagaagctgacaatttttgINSttttttcggagctggctcat																								novel		C3L-00094_TP	C3L-00094_NB	-	-																c.2613dupA	p.Gln872ThrfsTer8	p.Q872Tfs*8	ENST00000266070	12/16	137	117	20	114	114	0	sindel-varindel-pindel	DIDO1,frameshift_variant,p.Gln872ThrfsTer8,ENST00000266070,NM_033081.2;DIDO1,frameshift_variant,p.Gln872ThrfsTer8,ENST00000395343,NM_001193369.1;DIDO1,frameshift_variant,p.Gln872ThrfsTer8,ENST00000395340,NM_080797.3,NM_001193370.1;	T	ENST00000266070	Transcript	frameshift_variant	2969-2970/8574	2613-2614/6723	871-872/2240	-/X	-/A		1		-1	DIDO1	HGNC	HGNC:2680	protein_coding	YES	CCDS33506.1	ENSP00000266070	Q9BTC0		UPI0000206380	NM_033081.2			12/16		hmmpanther:PTHR11477,hmmpanther:PTHR11477:SF13																	HIGH	1	insertion	5			1										PASS		.	.												T	7	5	9	62894153	62894153	-	T	1	0	1	1	0	0	0	0	0	4326	1386	48	0		0	DIDO1	20	62894153	Frame_Shift_Ins	INS	-	C3L-00094_TP	72646	62894153	1550014	231	3365											
POTED	0	.	GRCh38	chr21	13639623	13639623	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatagaagtggctgaacaGaaaatgaattctgaggtatt	16	10	11	4	0	1	6	0	3	1	3	1	6	1	6	0	2	1	2	0	2	7	4	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1518G>A	p.=	p.Q506Q	ENST00000299443	10/11	22	11	11	24	24	0	strelka-varscan-mutect	POTED,synonymous_variant,p.=,ENST00000299443,NM_174981.3;	A	ENST00000299443	Transcript	synonymous_variant	1570/1826	1518/1755	506/584	Q	caG/caA		1		1	POTED	HGNC	HGNC:23822	protein_coding	YES	CCDS13562.1	ENSP00000299443	Q86YR6		UPI00001AECB3	NM_174981.3			10/11		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF38																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	9	13639623	13639623	G	A	1	0	0	0	0	0	0	0	1	12377	933	33	3		3	POTED	21	13639623	Silent	SNP	G	C3L-00094_TP		13639623	33070360	232	3366											
ABCG1	0	.	GRCh38	chr21	42294594	42294594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccggtgctcctgttctcggGgttcttcgtcagcttcgaca	3	13	11	14	4	3	0	1	0	2	0	7	1	4	0	2	3	2	4	2	3	0	4	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.1742G>T	p.Gly581Val	p.G581V	ENST00000361802	14/15	252	227	25	252	251	1	strelka-mutect	ABCG1,missense_variant,p.Gly727Val,ENST00000398437,;ABCG1,missense_variant,p.Gly571Val,ENST00000398457,NM_207627.1,NM_207628.1;ABCG1,missense_variant,p.Gly580Val,ENST00000343687,NM_207174.1;ABCG1,missense_variant,p.Gly581Val,ENST00000361802,NM_004915.3;ABCG1,missense_variant,p.Gly569Val,ENST00000398449,NM_016818.2;ABCG1,missense_variant,p.Gly566Val,ENST00000347800,NM_207629.1;ABCG1,non_coding_transcript_exon_variant,,ENST00000462050,;ABCG1,non_coding_transcript_exon_variant,,ENST00000472587,;ABCG1,non_coding_transcript_exon_variant,,ENST00000496783,;	T	ENST00000361802	Transcript	missense_variant	1887/3034	1742/2037	581/678	G/V	gGg/gTg		1		1	ABCG1	HGNC	HGNC:73	protein_coding	YES	CCDS13682.1	ENSP00000354995	P45844		UPI0000125130	NM_004915.3	deleterious(0)		14/15		Transmembrane_helices:TMhelix,hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF177,TIGRFAM_domain:TIGR00955,Pfam_domain:PF01061																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	9	42294594	42294594	G	T	1	0	0	0	0	1	0	0	0	72	1232	43	2		2	ABCG1	21	42294594	Missense_Mutation	SNP	G	C3L-00094_TP	28654971	42294594	4415389	233	3367											
HSF2BP	0	.	GRCh38	chr21	43592323	43592323	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtatagggacatcagcAttagcctgaaatgtaaaaga	16	10	9	6	0	1	2	1	1	0	1	1	3	1	3	1	1	2	3	1	1	6	5	rs760990550		C3L-00094_TP	C3L-00094_NB	A	A																c.698T>A	p.Met233Lys	p.M233K	ENST00000291560	8/9	101	89	12	118	118	0	strelka-varscan-mutect	HSF2BP,missense_variant,p.Met233Lys,ENST00000291560,NM_007031.1;	T	ENST00000291560	Transcript	missense_variant	1030/1899	698/1005	233/334	M/K	aTg/aAg	rs760990550	1		-1	HSF2BP	HGNC	HGNC:5226	protein_coding	YES	CCDS13697.1	ENSP00000291560	O75031	Q6IAT7	UPI000012C321	NM_007031.1	deleterious(0)		8/9		Gene3D:1.25.10.10,hmmpanther:PTHR15434,hmmpanther:PTHR15434:SF2,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs760990550	.												T	3	4	9	43592323	43592323	A	T	1	0	0	0	0	1	0	0	0	7291	231	8	4		4	HSF2BP	21	43592323	Missense_Mutation	SNP	A	C3L-00094_TP	1297729	43592323	3117660	234	3368											
CLTCL1	0	.	GRCh38	chr22	19242796	19242796	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcctcctgtgggattacgTacagcaaagcagaaaagggt	12	9	12	8	1	0	1	0	0	0	1	1	2	1	2	2	2	5	3	2	2	5	3	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.660A>T	p.=	p.V220V	ENST00000427926	4/33	188	146	42	145	145	0	strelka-varscan-mutect	CLTCL1,synonymous_variant,p.=,ENST00000427926,NM_007098.3;CLTCL1,synonymous_variant,p.=,ENST00000621271,NM_001835.3;CLTCL1,synonymous_variant,p.=,ENST00000617103,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000615606,;AC000081.2,upstream_gene_variant,,ENST00000433141,;	A	ENST00000427926	Transcript	synonymous_variant	733/5513	660/4923	220/1640	V	gtA/gtT		1		-1	CLTCL1	HGNC	HGNC:2093	protein_coding	YES	CCDS46662.2	ENSP00000441158	P53675		UPI0000127ABE	NM_007098.3			4/33		hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,Pfam_domain:PF01394,PIRSF_domain:PIRSF002290,Gene3D:3gc3B00,Superfamily_domains:0046096																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	9	19242796	19242796	T	A	1	0	0	0	0	0	0	0	1	3339	1625	57	4		4	CLTCL1	22	19242796	Silent	SNP	T	C3L-00094_TP		19242796	31575672	235	3369											
MYO18B	0	.	GRCh38	chr22	25777646	25777646	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcacagcgggcatacTgggcgctgctgaaccagcgg	8	5	15	13	3	0	1	0	1	0	0	0	1	0	1	2	4	5	4	2	4	2	1	novel		C3L-00094_TP	C3L-00094_NB	T	T																c.1933T>C	p.Trp645Arg	p.W645R	ENST00000335473	8/44	78	69	9	51	51	0	strelka-varscan-mutect	MYO18B,missense_variant,p.Trp645Arg,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,missense_variant,p.Trp645Arg,ENST00000407587,;MYO18B,missense_variant,p.Trp645Arg,ENST00000536101,;MYO18B,missense_variant,p.Trp645Arg,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	C	ENST00000335473	Transcript	missense_variant	2183/8565	1933/7704	645/2567	W/R	Tgg/Cgg		1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5	tolerated(1)		8/44		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF372,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs752540028	.												C	3	2	9	25777646	25777646	T	C	1	0	0	0	0	1	0	0	0	10067	1580	55	5		5	MYO18B	22	25777646	Missense_Mutation	SNP	T	C3L-00094_TP	6534850	25777646	25040822	236	3370											
CRYBA4	0	.	GRCh38	chr22	26622603	26622603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggggccacaatgaccCtgcaatgcacaaagtcagcg	14	4	12	11	1	1	1	1	1	0	0	1	2	1	2	2	3	3	2	2	3	4	0	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.7C>A	p.Leu3Met	p.L3M	ENST00000354760	2/6	345	203	142	244	243	1	strelka-varscan-mutect	CRYBA4,missense_variant,p.Leu3Met,ENST00000354760,NM_001886.2;CRYBB1,upstream_gene_variant,,ENST00000215939,NM_001887.3;CRYBA4,non_coding_transcript_exon_variant,,ENST00000466315,;	A	ENST00000354760	Transcript	missense_variant	42/811	7/591	3/196	L/M	Ctg/Atg		1		1	CRYBA4	HGNC	HGNC:2396	protein_coding	YES	CCDS13841.1	ENSP00000346805	P53673	A0A097PIJ6	UPI0000167B21	NM_001886.2	tolerated(0.22)		2/6		hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	9	26622603	26622603	C	A	1	0	0	0	0	1	0	0	0	3711	680	24	2		2	CRYBA4	22	26622603	Missense_Mutation	SNP	C	C3L-00094_TP	844957	26622603	24195865	237	3371											
SSTR3	0	.	GRCh38	chr22	37206638	37206638	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttgctggccactctgctgGgcggccgctcctgcccgctg	1	9	13	18	3	1	0	0	0	1	0	2	0	2	0	5	3	3	4	5	3	0	1	rs753297506		C3L-00094_TP	C3L-00094_NB	G	G																c.1166C>G	p.Pro389Arg	p.P389R	ENST00000610913	2/2	182	168	14	173	173	0	strelka-varscan-mutect	SSTR3,missense_variant,p.Pro389Arg,ENST00000610913,NM_001051.4;SSTR3,missense_variant,p.Pro389Arg,ENST00000617123,NM_001278687.2;	C	ENST00000610913	Transcript	missense_variant	1700/4100	1166/1257	389/418	P/R	cCc/cGc	rs753297506	1		-1	SSTR3	HGNC	HGNC:11332	protein_coding	YES	CCDS13944.1	ENSP00000480971	P32745		UPI0000050435	NM_001051.4	tolerated_low_confidence(0.2)		2/2		hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF42																	MODERATE	1	SNV	1			1										PASS		rs753297506	.												C	3	2	9	37206638	37206638	G	C	1	0	0	0	0	1	0	0	0	15576	1232	43	4		4	SSTR3	22	37206638	Missense_Mutation	SNP	G	C3L-00094_TP	10584035	37206638	13611830	238	3372											
P2RY8	0	.	GRCh38	chrX	1466258	1466258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtttgcgtaaaaggccaCggtcaccacgttgcaaagca	12	8	10	11	3	1	0	1	0	0	0	1	0	1	0	2	2	3	5	2	2	3	3	rs750116034		C3L-00094_TP	C3L-00094_NB	C	C																c.301G>T	p.Val101Leu	p.V101L	ENST00000381297	2/2	430	268	162	426	426	0	strelka-varscan-mutect	P2RY8,missense_variant,p.Val101Leu,ENST00000381297,NM_178129.4;P2RY8,downstream_gene_variant,,ENST00000460672,;	A	ENST00000381297	Transcript	missense_variant	512/4198	301/1080	101/359	V/L	Gtg/Ttg	rs750116034	1		-1	P2RY8	HGNC	HGNC:15524	protein_coding	YES	CCDS14115.1	ENSP00000370697	Q86VZ1		UPI000000DA6D	NM_178129.4	tolerated(0.47)		2/2		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF25,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01157																	MODERATE	1	SNV	1			1										PASS		rs750116034	.												A	3	1	9	1466258	1466258	C	A	1	0	0	0	0	1	0	0	0	11428	536	19	1		1	P2RY8	23	1466258	Missense_Mutation	SNP	C	C3L-00094_TP		1466258	154574637	239	3373											
DMD	0	.	GRCh38	chrX	32573625	32573625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttctgaaagccatgCactaaaaaggcactgcaaga	14	11	7	9	0	2	2	0	1	2	1	2	2	2	2	1	1	3	3	1	1	5	4	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.1717G>T	p.Ala573Ser	p.A573S	ENST00000357033	15/79	227	118	109	229	228	1	strelka-varscan-mutect	DMD,missense_variant,p.Ala573Ser,ENST00000357033,NM_000109.3,NM_004006.2;DMD,missense_variant,p.Ala569Ser,ENST00000378677,NM_004010.3,NM_004009.3;DMD,missense_variant,p.Ala573Ser,ENST00000620040,;DMD,missense_variant,p.Ala569Ser,ENST00000619831,;DMD,missense_variant,p.Ala565Ser,ENST00000288447,;DMD,missense_variant,p.Ala121Ser,ENST00000447523,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,non_coding_transcript_exon_variant,,ENST00000480751,;DMD,intron_variant,,ENST00000488902,;	A	ENST00000357033	Transcript	missense_variant	1924/13956	1717/11058	573/3685	A/S	Gca/Tca		1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2	tolerated(0.43)		15/79		hmmpanther:PTHR11915:SF261,hmmpanther:PTHR11915,PIRSF_domain:PIRSF002341,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		rs1388666944	.												A	3	1	9	32573625	32573625	C	A	1	0	0	0	0	1	0	0	0	4387	710	25	2		2	DMD	23	32573625	Missense_Mutation	SNP	C	C3L-00094_TP	31107367	32573625	123467270	240	3374											
FAM47B	0	.	GRCh38	chrX	34943912	34943912	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagctggaagacgcaCgggctcgttgtgagggccag	11	5	17	8	3	0	4	0	1	0	3	1	5	0	5	1	3	1	4	1	3	3	1			C3L-00094_TP	C3L-00094_NB	C	C																c.1081C>A	p.=	p.R361R	ENST00000329357	1/1	133	51	82	108	108	0	strelka-varscan-mutect	FAM47B,synonymous_variant,p.=,ENST00000329357,NM_152631.2;	A	ENST00000329357	Transcript	synonymous_variant	1117/2120	1081/1938	361/645	R	Cgg/Agg	COSM1120794	1		1	FAM47B	HGNC	HGNC:26659	protein_coding	YES	CCDS14236.1	ENSP00000328307	Q8NA70		UPI000013F47B	NM_152631.2			1/1		Pfam_domain:PF14642											1						LOW	1	SNV			1	1										PASS		rs1209259469	.												A	2	1	9	34943912	34943912	C	A	1	0	0	0	0	0	0	0	1	5448	527	19	1		1	FAM47B	23	34943912	Silent	SNP	C	C3L-00094_TP	2370287	34943912	121096983	241	3375											
UBA1	0	.	GRCh38	chrX	47214335	47214335	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgtcttgcagtactataaCcaagagtggacattgtggga	11	13	11	6	0	1	1	0	0	1	1	1	3	1	3	1	2	3	2	1	2	4	6	novel		C3L-00094_TP	C3L-00094_NB	C	C																c.2847C>G	p.Asn949Lys	p.N949K	ENST00000335972	24/26	243	212	31	189	189	0	strelka-varscan-mutect	UBA1,missense_variant,p.Asn949Lys,ENST00000335972,NM_003334.3;UBA1,missense_variant,p.Asn949Lys,ENST00000377351,NM_153280.2;UBA1,missense_variant,p.Asn397Lys,ENST00000377269,;CDK16,upstream_gene_variant,,ENST00000457458,NM_033018.3;CDK16,upstream_gene_variant,,ENST00000357227,NM_006201.4;CDK16,upstream_gene_variant,,ENST00000622098,;CDK16,upstream_gene_variant,,ENST00000517426,;CDK16,upstream_gene_variant,,ENST00000519758,;CDK16,upstream_gene_variant,,ENST00000520893,;CDK16,upstream_gene_variant,,ENST00000522883,;CDK16,upstream_gene_variant,,ENST00000517997,;CDK16,upstream_gene_variant,,ENST00000517479,;CDK16,upstream_gene_variant,,ENST00000522234,;CDK16,upstream_gene_variant,,ENST00000520295,;	G	ENST00000335972	Transcript	missense_variant	3030/3559	2847/3177	949/1058	N/K	aaC/aaG		1		1	UBA1	HGNC	HGNC:12469	protein_coding	YES	CCDS14275.1	ENSP00000338413	P22314	A0A024R1A3	UPI0000137946	NM_003334.3	tolerated(0.08)		24/26		hmmpanther:PTHR10953:SF144,hmmpanther:PTHR10953,TIGRFAM_domain:TIGR01408,SMART_domains:SM00985																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	9	47214335	47214335	C	G	1	0	0	0	0	1	0	0	0	17346	506	18	4		4	UBA1	23	47214335	Missense_Mutation	SNP	C	C3L-00094_TP	12270423	47214335	108826560	242	3376											
GDPD2	0	.	GRCh38	chrX	70429496	70429496	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttctttcttatagaggCgacccttctggggggccaaa	8	13	11	9	1	3	1	0	0	3	1	3	2	3	1	2	4	0	1	2	4	3	6			C3L-00094_TP	C3L-00094_NB	C	C																c.940C>T	p.Arg314Ter	p.R314*	ENST00000453994	11/17	61	52	9	33	33	0	strelka-varscan-mutect	GDPD2,stop_gained,p.Arg314Ter,ENST00000453994,NM_001171192.1;GDPD2,stop_gained,p.Arg235Ter,ENST00000536730,NM_001171193.1;GDPD2,stop_gained,p.Arg314Ter,ENST00000374382,NM_017711.3;GDPD2,stop_gained,p.Arg235Ter,ENST00000538649,NM_001171191.1;GDPD2,non_coding_transcript_exon_variant,,ENST00000472623,;	T	ENST00000453994	Transcript	stop_gained	1301/2438	940/1773	314/590	R/*	Cga/Tga	COSM1124476,COSM1599671	1		1	GDPD2	HGNC	HGNC:25974	protein_coding	YES	CCDS55437.1	ENSP00000414019	Q9HCC8		UPI00017A7EF7	NM_001171192.1			11/17		PROSITE_profiles:PS51704,hmmpanther:PTHR23344:SF1,hmmpanther:PTHR23344,Pfam_domain:PF03009,Gene3D:3.20.20.190,Superfamily_domains:SSF51695											1,1						HIGH	1	SNV	2		1,1	1										PASS		.	.												T	4	4	9	70429496	70429496	C	T	1	0	0	0	0	0	1	0	0	6197	782	27	1		1	GDPD2	23	70429496	Nonsense_Mutation	SNP	C	C3L-00094_TP	23215161	70429496	85611399	243	3377											
MAGEE1	0	.	GRCh38	chrX	76430755	76430755	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaatggaagatgaggccaAtagagctgatgttgggcaca	13	7	15	6	0	0	4	0	2	0	2	0	5	0	5	1	4	1	4	1	4	4	2	rs781799258		C3L-00094_TP	C3L-00094_NB	A	A																c.2825A>T	p.Asn942Ile	p.N942I	ENST00000361470	1/1	61	26	35	52	52	0	strelka-varscan-mutect	MAGEE1,missense_variant,p.Asn942Ile,ENST00000361470,NM_020932.2;	T	ENST00000361470	Transcript	missense_variant	3032/3630	2825/2874	942/957	N/I	aAt/aTt	rs781799258	1		1	MAGEE1	HGNC	HGNC:24934	protein_coding	YES	CCDS14433.1	ENSP00000354912	Q9HCI5		UPI000006F138	NM_020932.2	deleterious(0)		1/1																			MODERATE	1	SNV				1										PASS		rs781799258	.												T	3	4	9	76430755	76430755	A	T	1	0	0	0	0	1	0	0	0	9103	101	4	4		4	MAGEE1	23	76430755	Missense_Mutation	SNP	A	C3L-00094_TP	6001259	76430755	79610140	244	3378											
TRPC5	0	.	GRCh38	chrX	111912678	111912678	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagttgcagcggatctggtgGggccgtgggatagtgacccg	6	8	18	9	3	1	1	0	1	1	0	1	3	1	3	2	5	2	2	2	5	1	2	novel		C3L-00094_TP	C3L-00094_NB	G	G																c.513C>A	p.=	p.P171P	ENST00000262839	3/11	162	73	89	116	116	0	strelka-varscan-mutect	TRPC5,synonymous_variant,p.=,ENST00000262839,NM_012471.2;	T	ENST00000262839	Transcript	synonymous_variant	1432/5839	513/2922	171/973	P	ccC/ccA		1		-1	TRPC5	HGNC	HGNC:12337	protein_coding	YES	CCDS14561.1	ENSP00000262839	Q9UL62		UPI00001374B6	NM_012471.2			3/11		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF24,TIGRFAM_domain:TIGR00870																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	9	111912678	111912678	G	T	1	0	0	0	0	0	0	0	1	17087	1219	43	2		2	TRPC5	23	111912678	Silent	SNP	G	C3L-00094_TP	35481923	111912678	44128217	245	3379											
RP13-347D8.7	0	.	GRCh38	chrX	119073767	119073767	+	Missense_Mutation	SNP	G	G	T																															gcatgagaggctgggcgtggGggccgcgggtcctgagggcg																								novel		C3L-00094_TP	C3L-00094_NB	G	G																c.542G>T	p.Gly181Val	p.G181V	ENST00000620151	1/3	91	39	52	69	69	0	strelka-varscan-mutect	RP13-347D8.7,missense_variant,p.Gly181Val,ENST00000620151,;KIAA1210,downstream_gene_variant,,ENST00000402510,NM_020721.1;	T	ENST00000620151	Transcript	missense_variant	542/1147	542/975	181/324	G/V	gGg/gTg		1		1	RP13-347D8.7	Clone_based_vega_gene		protein_coding	YES		ENSP00000488984		A0A0U1RQG5	UPI000719A0D1		tolerated(0.14)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR32157,hmmpanther:PTHR32157:SF2,Pfam_domain:PF15623																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	9	119073767	119073767	G	T	1	0	0	0	0	1	0	0	0	13772	1232	43	2		2	RP13-347D8.7	23	119073767	Missense_Mutation	SNP	G	C3L-00094_TP	7161089	119073767	36967128	246	3380	75	2									
RP13-347D8.7	0	.	GRCh38	chrX	119073768	119073768	+	Silent	SNP	G	G	T																															catgagaggctgggcgtgggGgccgcgggtcctgagggcga																								novel		C3L-00094_TP	C3L-00094_NB	G	G																c.543G>T	p.=	p.G181G	ENST00000620151	1/3	91	39	52	69	69	0	strelka-varscan-mutect	RP13-347D8.7,synonymous_variant,p.=,ENST00000620151,;KIAA1210,downstream_gene_variant,,ENST00000402510,NM_020721.1;	T	ENST00000620151	Transcript	synonymous_variant	543/1147	543/975	181/324	G	ggG/ggT		1		1	RP13-347D8.7	Clone_based_vega_gene		protein_coding	YES		ENSP00000488984		A0A0U1RQG5	UPI000719A0D1				1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR32157,hmmpanther:PTHR32157:SF2,Pfam_domain:PF15623																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	9	119073768	119073768	G	T	1	0	0	0	0	0	0	0	1	13772	1219	43	2		2	RP13-347D8.7	23	119073768	Silent	SNP	G	C3L-00094_TP	1	119073768	36967127	247	3381	75	2									
TTLL10	0	.	GRCh38	chr1	1179242	1179242	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacagctgcacccggttcatCcaccgccggggaccacccac	8	4	9	20	3	1	0	1	0	0	0	2	1	2	1	6	3	2	3	6	3	0	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.27C>T	p.=	p.I9I	ENST00000379290	4/16	85	75	10	122	122	0	strelka-varscan-mutect	TTLL10,synonymous_variant,p.=,ENST00000379290,;TTLL10,synonymous_variant,p.=,ENST00000379289,NM_001130045.1;TTLL10,upstream_gene_variant,,ENST00000379288,NM_153254.2;TTLL10-AS1,intron_variant,,ENST00000379317,;TTLL10,downstream_gene_variant,,ENST00000506177,;TTLL10,upstream_gene_variant,,ENST00000460998,;TTLL10,upstream_gene_variant,,ENST00000514695,;	T	ENST00000379290	Transcript	synonymous_variant	200/2283	27/2022	9/673	I	atC/atT		1		1	TTLL10	HGNC	HGNC:26693	protein_coding	YES	CCDS44036.1	ENSP00000368592	Q6ZVT0		UPI0000205ADB				4/16																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	1179242	1179242	C	T	1	0	0	0	0	0	0	0	1	17235	845	30	3		3	TTLL10	1	1179242	Silent	SNP	C	C3L-00095_TP		1179242	247777180	1	3382											
FAM132A	0	.	GRCh38	chr1	1244406	1244406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtccctgcttccgcacCgcttccttaaggcgccgtcg	3	12	9	17	5	1	0	0	0	1	0	5	0	4	0	5	1	1	3	5	1	1	4	rs576319696		C3L-00095_TP	C3L-00095_NB	C	C																c.269G>T	p.Arg90Leu	p.R90L	ENST00000330388	2/8	151	142	9	220	220	0	strelka-varscan-mutect	FAM132A,missense_variant,p.Arg90Leu,ENST00000330388,NM_001014980.2;FAM132A,non_coding_transcript_exon_variant,,ENST00000468365,;FAM132A,non_coding_transcript_exon_variant,,ENST00000486627,;FAM132A,upstream_gene_variant,,ENST00000462849,;FAM132A,upstream_gene_variant,,ENST00000478606,;	A	ENST00000330388	Transcript	missense_variant	301/1036	269/909	90/302	R/L	cGg/cTg	rs576319696	1		-1	FAM132A	HGNC	HGNC:32308	protein_coding	YES	CCDS30554.1	ENSP00000329137	Q5T7M4		UPI00001D7E7A	NM_001014980.2	deleterious(0)		2/8		hmmpanther:PTHR24019:SF12,hmmpanther:PTHR24019																	MODERATE	1	SNV	1			1										PASS		rs576319696	.												A	3	1	10	1244406	1244406	C	A	1	0	0	0	0	1	0	0	0	5292	652	23	1		1	FAM132A	1	1244406	Missense_Mutation	SNP	C	C3L-00095_TP	65164	1244406	247712016	2	3383											
ACOT7	0	.	GRCh38	chr1	6264683	6264683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaaagcgcttcttctcgtCctcggtctcgggctgtggac	4	12	11	14	4	4	0	1	0	3	0	8	1	5	1	1	3	1	2	1	3	1	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1057G>T	p.Asp353Tyr	p.D353Y	ENST00000377855	9/9	96	91	5	117	117	0	varscan-mutect	ACOT7,missense_variant,p.Asp343Tyr,ENST00000361521,;ACOT7,missense_variant,p.Asp302Tyr,ENST00000377842,NM_181866.2;ACOT7,missense_variant,p.Asp343Tyr,ENST00000545482,NM_007274.3;ACOT7,missense_variant,p.Asp353Tyr,ENST00000377855,NM_181864.2;ACOT7,missense_variant,p.Asp323Tyr,ENST00000377845,NM_181865.2;ACOT7,missense_variant,p.Asp311Tyr,ENST00000608083,;GPR153,upstream_gene_variant,,ENST00000377893,NM_207370.2;ACOT7,3_prime_UTR_variant,,ENST00000418124,;ACOT7,3_prime_UTR_variant,,ENST00000377860,;	A	ENST00000377855	Transcript	missense_variant	1204/1614	1057/1143	353/380	D/Y	Gac/Tac		1		-1	ACOT7	HGNC	HGNC:24157	protein_coding	YES	CCDS65.1	ENSP00000367086	O00154		UPI000012674F	NM_181864.2	tolerated(0.08)		9/9		Gene3D:3.10.129.10,hmmpanther:PTHR11049,hmmpanther:PTHR11049:SF14,Superfamily_domains:SSF54637																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	6264683	6264683	C	A	1	0	0	0	0	1	0	0	0	197	855	30	2		2	ACOT7	1	6264683	Missense_Mutation	SNP	C	C3L-00095_TP	5020277	6264683	242691739	3	3384											
ESPN	0	.	GRCh38	chr1	6440652	6440652	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccgacgtgagcctgtcCgagcaggacaaagacggcgc	10	4	14	13	5	0	2	0	1	0	1	1	5	1	3	3	2	3	2	3	2	1	0	rs367944375		C3L-00095_TP	C3L-00095_NB	C	C																c.702C>G	p.=	p.S234S	ENST00000377828	4/13	171	157	14	181	179	2	varscan-mutect	ESPN,splice_region_variant,,ENST00000418286,;ESPN,synonymous_variant,p.=,ENST00000636330,;ESPN,synonymous_variant,p.=,ENST00000377828,NM_031475.2;RP1-202O8.2,downstream_gene_variant,,ENST00000419034,;ESPN,non_coding_transcript_exon_variant,,ENST00000633651,;ESPN,non_coding_transcript_exon_variant,,ENST00000632142,;	G	ENST00000377828	Transcript	synonymous_variant	870/3531	702/2565	234/854	S	tcC/tcG	rs367944375	1		1	ESPN	HGNC	HGNC:13281	protein_coding	YES	CCDS70.1	ENSP00000367059	B1AK53		UPI000013D2B6	NM_031475.2			4/13		PROSITE_profiles:PS50297,hmmpanther:PTHR24153:SF14,hmmpanther:PTHR24153,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		rs367944375	.												G	2	3	10	6440652	6440652	C	G	1	0	0	0	0	0	0	0	1	5116	639	23	4		4	ESPN	1	6440652	Silent	SNP	C	C3L-00095_TP	175969	6440652	242515770	4	3385											
RERE	0	.	GRCh38	chr1	8358427	8358427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctccaaggggttcaggcCcgggtggaaagaagcaaaag	12	5	14	10	1	2	1	1	0	1	1	3	2	2	2	3	5	1	2	3	5	5	1	rs756183537		C3L-00095_TP	C3L-00095_NB	C	C																c.4108G>T	p.Gly1370Cys	p.G1370C	ENST00000337907	21/24	95	88	7	133	133	0	strelka-mutect	RERE,missense_variant,p.Gly1370Cys,ENST00000337907,NM_012102.3;RERE,missense_variant,p.Gly1102Cys,ENST00000377464,;RERE,missense_variant,p.Gly1370Cys,ENST00000400908,NM_001042681.1;RERE,missense_variant,p.Gly816Cys,ENST00000476556,NM_001042682.1;RERE,intron_variant,,ENST00000400907,;RERE,intron_variant,,ENST00000505225,;RERE,upstream_gene_variant,,ENST00000467350,;	A	ENST00000337907	Transcript	missense_variant	4743/8026	4108/4701	1370/1566	G/C	Ggc/Tgc	rs756183537	1		-1	RERE	HGNC	HGNC:9965	protein_coding	YES	CCDS95.1	ENSP00000338629	Q9P2R6	A0A024R4E9	UPI00001419CC	NM_012102.3	deleterious_low_confidence(0)		21/24		hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF12,Pfam_domain:PF03154																	MODERATE	1	SNV	1			1										PASS		rs756183537	.												A	3	1	10	8358427	8358427	C	A	1	0	0	0	0	1	0	0	0	13401	623	22	2		2	RERE	1	8358427	Missense_Mutation	SNP	C	C3L-00095_TP	1917775	8358427	240597995	5	3386											
DISP3	0	.	GRCh38	chr1	11501900	11501900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgatccatgagatcgagcGcaagatcatggaccacccag	13	5	10	13	3	1	2	1	1	0	2	3	6	2	3	3	1	1	1	3	1	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.908G>T	p.Arg303Leu	p.R303L	ENST00000294484	2/21	130	121	9	189	188	1	strelka-varscan-mutect	DISP3,missense_variant,p.Arg303Leu,ENST00000294484,NM_020780.1;	T	ENST00000294484	Transcript	missense_variant	1046/5215	908/4179	303/1392	R/L	cGc/cTc		1		1	DISP3	HGNC	HGNC:29251	protein_coding	YES	CCDS41247.1	ENSP00000294484	Q9P2K9		UPI00001C1D7A	NM_020780.1	deleterious(0.01)		2/21		hmmpanther:PTHR10796:SF125,hmmpanther:PTHR10796																	MODERATE	1	SNV	1			1										PASS		rs1015515395	.												T	3	4	10	11501900	11501900	G	T	1	0	0	0	0	1	0	0	0	4347	1087	38	1		1	DISP3	1	11501900	Missense_Mutation	SNP	G	C3L-00095_TP	3143473	11501900	237454522	6	3387											
FBXO2	0	.	GRCh38	chr1	11648729	11648729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgctgctgttggtcacccGggccccgaaccagcccttcc	5	7	10	19	3	1	0	1	0	0	0	2	1	2	0	6	2	3	3	6	2	1	2	rs763877988		C3L-00095_TP	C3L-00095_NB	G	G																c.856C>T	p.Arg286Trp	p.R286W	ENST00000354287	6/6	263	246	17	291	291	0	strelka-varscan-mutect	FBXO2,missense_variant,p.Arg286Trp,ENST00000354287,NM_012168.5;FBXO2,downstream_gene_variant,,ENST00000465901,;FBXO2,downstream_gene_variant,,ENST00000475961,;FBXO2,downstream_gene_variant,,ENST00000466919,;FBXO2,downstream_gene_variant,,ENST00000471501,;	A	ENST00000354287	Transcript	missense_variant	1198/1560	856/891	286/296	R/W	Cgg/Tgg	rs763877988	1		-1	FBXO2	HGNC	HGNC:13581	protein_coding	YES	CCDS130.1	ENSP00000346240	Q9UK22		UPI00000711D1	NM_012168.5	deleterious(0)		6/6		PROSITE_profiles:PS51114,hmmpanther:PTHR12125:SF11,hmmpanther:PTHR12125,Gene3D:2.60.120.260,Pfam_domain:PF04300,SMART_domains:SM01198,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		rs763877988	.												A	3	1	10	11648729	11648729	G	A	1	0	0	0	0	1	0	0	0	5595	1115	39	1		1	FBXO2	1	11648729	Missense_Mutation	SNP	G	C3L-00095_TP	146829	11648729	237307693	7	3388											
UBR4	0	.	GRCh38	chr1	19197748	19197748	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaactgcatcttggaacCgattgatatagcgtaggaaa	15	10	9	7	2	1	1	0	1	1	0	1	4	1	3	1	2	4	2	1	2	7	6	rs771173222		C3L-00095_TP	C3L-00095_NB	C	C																c.815G>T	p.Arg272Leu	p.R272L	ENST00000375254	7/106	233	220	13	284	284	0	strelka-varscan-mutect	UBR4,missense_variant,p.Arg272Leu,ENST00000375254,NM_020765.2;	A	ENST00000375254	Transcript	missense_variant	843/15906	815/15552	272/5183	R/L	cGg/cTg	rs771173222	1		-1	UBR4	HGNC	HGNC:30313	protein_coding	YES	CCDS189.1	ENSP00000364403	Q5T4S7		UPI000021276F	NM_020765.2	deleterious(0.01)		7/106		hmmpanther:PTHR21725																	MODERATE	1	SNV	1			1										PASS		rs771173222	.												A	3	1	10	19197748	19197748	C	A	1	0	0	0	0	1	0	0	0	17428	652	23	1		1	UBR4	1	19197748	Missense_Mutation	SNP	C	C3L-00095_TP	7549019	19197748	229758674	8	3389											
ALPL	0	.	GRCh38	chr1	21563171	21563171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgccaccgcctacctgtgtgGggtgaaggccaatgagggca	8	6	15	12	2	0	2	0	2	0	0	0	2	0	2	5	4	1	1	5	4	3	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.359G>T	p.Gly120Val	p.G120V	ENST00000374840	5/12	288	273	15	363	363	0	strelka-varscan-mutect	ALPL,missense_variant,p.Gly120Val,ENST00000374840,NM_000478.4;ALPL,missense_variant,p.Gly43Val,ENST00000539907,NM_001177520.1;ALPL,missense_variant,p.Gly120Val,ENST00000374832,;ALPL,missense_variant,p.Gly65Val,ENST00000540617,NM_001127501.2;ALPL,non_coding_transcript_exon_variant,,ENST00000468526,;	T	ENST00000374840	Transcript	missense_variant	609/2589	359/1575	120/524	G/V	gGg/gTg		1		1	ALPL	HGNC	HGNC:438	protein_coding	YES	CCDS217.1	ENSP00000363973	P05186	A0A024RAG0	UPI000013E17C	NM_000478.4	deleterious(0)		5/12		hmmpanther:PTHR11596:SF49,hmmpanther:PTHR11596,Pfam_domain:PF00245,Gene3D:3.40.720.10,SMART_domains:SM00098,Superfamily_domains:SSF53649,Prints_domain:PR00113																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	21563171	21563171	G	T	1	0	0	0	0	1	0	0	0	647	1232	43	2		2	ALPL	1	21563171	Missense_Mutation	SNP	G	C3L-00095_TP	2365423	21563171	227393251	9	3390											
C1orf234	0	.	GRCh38	chr1	23010981	23010981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cattctgtgttttttcatggGaaaattccgatgtctgcttg	7	18	9	7	1	3	0	1	0	2	0	4	2	4	1	1	1	1	2	1	1	2	6	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.286C>T	p.Pro96Ser	p.P96S	ENST00000566855	3/3	169	159	10	199	199	0	strelka-varscan-mutect	C1orf234,missense_variant,p.Pro96Ser,ENST00000566855,NM_001242521.1;C1orf234,missense_variant,p.Pro122Ser,ENST00000440767,;C1orf234,missense_variant,p.Pro96Ser,ENST00000622840,;	A	ENST00000566855	Transcript	missense_variant	363/510	286/366	96/121	P/S	Ccc/Tcc		1		-1	C1orf234	HGNC	HGNC:44651	protein_coding	YES	CCDS57978.1	ENSP00000457161	H3BTG2		UPI0000204668	NM_001242521.1	tolerated_low_confidence(0.63)		3/3		hmmpanther:PTHR39412,hmmpanther:PTHR39412:SF1																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	10	23010981	23010981	G	A	1	0	0	0	0	1	0	0	0	1986	1174	41	3		3	C1orf234	1	23010981	Missense_Mutation	SNP	G	C3L-00095_TP	1447810	23010981	225945441	10	3391											
HNRNPR	0	.	GRCh38	chr1	23310573	23310573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagcgatgggttgggaacCccagttctgttggttgttgg	5	13	16	7	1	1	1	0	1	1	0	1	3	1	2	2	4	2	5	2	4	1	5	rs752978432		C3L-00095_TP	C3L-00095_NB	C	C																c.1792G>T	p.Gly598Cys	p.G598C	ENST00000374616	11/11	220	203	17	305	303	2	strelka-varscan-mutect	HNRNPR,missense_variant,p.Gly497Cys,ENST00000478691,NM_001102399.2,NM_001297621.1,NM_001102397.2;HNRNPR,missense_variant,p.Gly595Cys,ENST00000374612,NM_005826.4;HNRNPR,missense_variant,p.Gly598Cys,ENST00000374616,NM_001102398.2;HNRNPR,missense_variant,p.Gly595Cys,ENST00000302271,;HNRNPR,missense_variant,p.Gly456Cys,ENST00000606561,NM_001297622.1;HNRNPR,missense_variant,p.Gly557Cys,ENST00000427764,NM_001297620.1;HNRNPR,non_coding_transcript_exon_variant,,ENST00000476660,;HNRNPR,downstream_gene_variant,,ENST00000463552,;HNRNPR,downstream_gene_variant,,ENST00000470941,;HNRNPR,upstream_gene_variant,,ENST00000464516,;	A	ENST00000374616	Transcript	missense_variant	1901/2691	1792/1911	598/636	G/C	Ggt/Tgt	rs752978432	1		-1	HNRNPR	HGNC	HGNC:5047	protein_coding	YES	CCDS44085.1	ENSP00000363745	O43390		UPI000006F30B	NM_001102398.2	deleterious_low_confidence(0)		11/11		hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF482,TIGRFAM_domain:TIGR01648																	MODERATE	1	SNV	1			1										PASS		rs752978432	.												A	3	1	10	23310573	23310573	C	A	1	0	0	0	0	1	0	0	0	7167	623	22	2		2	HNRNPR	1	23310573	Missense_Mutation	SNP	C	C3L-00095_TP	299592	23310573	225645849	11	3392											
IL22RA1	0	.	GRCh38	chr1	24121390	24121390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggaccttagagatggcCtgtggggcgtagaatgggaa	9	8	18	6	1	0	2	0	0	0	2	0	5	0	4	2	6	0	2	2	6	4	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1140G>T	p.Gln380His	p.Q380H	ENST00000270800	7/7	31	23	8	36	36	0	strelka-varscan-mutect	IL22RA1,missense_variant,p.Gln380His,ENST00000270800,NM_021258.3;	A	ENST00000270800	Transcript	missense_variant	1179/2798	1140/1725	380/574	Q/H	caG/caT		1		-1	IL22RA1	HGNC	HGNC:13700	protein_coding	YES	CCDS247.1	ENSP00000270800	Q8N6P7		UPI0000071143	NM_021258.3	deleterious(0)		7/7		hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	24121390	24121390	C	A	1	0	0	0	0	1	0	0	0	7576	680	24	2		2	IL22RA1	1	24121390	Missense_Mutation	SNP	C	C3L-00095_TP	810817	24121390	224835032	12	3393											
EXTL1	0	.	GRCh38	chr1	26029240	26029240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaccttctgcctcatctCtggccaccgtcccgaggctg	4	10	9	18	2	3	0	1	0	2	0	5	1	4	0	6	2	2	1	6	2	0	1			C3L-00095_TP	C3L-00095_NB	C	C																c.827C>A	p.Ser276Tyr	p.S276Y	ENST00000374280	2/11	118	112	6	153	153	0	strelka-varscan-mutect	EXTL1,missense_variant,p.Ser276Tyr,ENST00000374280,NM_004455.2;EXTL1,non_coding_transcript_exon_variant,,ENST00000484339,;EXTL1,non_coding_transcript_exon_variant,,ENST00000481377,;EXTL1,upstream_gene_variant,,ENST00000470037,;	A	ENST00000374280	Transcript	missense_variant	1694/4015	827/2031	276/676	S/Y	tCt/tAt	COSM1748305	1		1	EXTL1	HGNC	HGNC:3515	protein_coding	YES	CCDS271.1	ENSP00000363398	Q92935		UPI000013DF48	NM_004455.2	deleterious(0)		2/11		hmmpanther:PTHR11062:SF8,hmmpanther:PTHR11062,Pfam_domain:PF03016											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	10	26029240	26029240	C	A	1	0	0	0	0	1	0	0	0	5193	913	32	2		2	EXTL1	1	26029240	Missense_Mutation	SNP	C	C3L-00095_TP	1907850	26029240	222927182	13	3394											
AIM1L	0	.	GRCh38	chr1	26344557	26344557	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagggagagcatcagggtCctgcacaacctctttctggg	8	8	14	11	0	3	1	1	0	2	1	4	2	4	1	2	4	3	3	2	4	1	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2101G>T	p.Asp701Tyr	p.D701Y	ENST00000308182	2/20	109	91	18	188	188	0	strelka-varscan-mutect	AIM1L,missense_variant,p.Asp701Tyr,ENST00000308182,NM_001039775.3;AIM1L,upstream_gene_variant,,ENST00000527815,;AIM1L,downstream_gene_variant,,ENST00000475866,;AIM1L,intron_variant,,ENST00000374207,;	A	ENST00000308182	Transcript	missense_variant	2251/5245	2101/4986	701/1661	D/Y	Gac/Tac		1		-1	AIM1L	HGNC	HGNC:17295	protein_coding	YES		ENSP00000310435	Q8N1P7		UPI0001DD21C3	NM_001039775.3	deleterious_low_confidence(0.01)		2/20		hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF50																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	26344557	26344557	C	A	1	0	0	0	0	1	0	0	0	508	855	30	2		2	AIM1L	1	26344557	Missense_Mutation	SNP	C	C3L-00095_TP	315317	26344557	222611865	14	3395											
COL16A1	0	.	GRCh38	chr1	31655397	31655397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctctctcctgcagggcccgGtggcccaacaggccccatgg	5	7	12	17	1	2	0	0	0	2	0	4	0	2	0	5	5	2	1	5	5	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.4207C>T	p.Pro1403Ser	p.P1403S	ENST00000373672	67/71	250	228	22	304	304	0	strelka-varscan-mutect	COL16A1,missense_variant,p.Pro1403Ser,ENST00000373672,NM_001856.3;COL16A1,downstream_gene_variant,,ENST00000440437,;RP11-73M7.6,intron_variant,,ENST00000610043,;RP11-73M7.6,intron_variant,,ENST00000591929,;RP11-73M7.6,intron_variant,,ENST00000585413,;RP11-73M7.6,intron_variant,,ENST00000609549,;RP11-73M7.6,intron_variant,,ENST00000609033,;RP11-73M7.6,intron_variant,,ENST00000589462,;RP11-73M7.6,intron_variant,,ENST00000609625,;RP11-73M7.6,intron_variant,,ENST00000607926,;RP11-73M7.6,intron_variant,,ENST00000587445,;RP11-73M7.6,intron_variant,,ENST00000585660,;RP11-73M7.6,intron_variant,,ENST00000610216,;RP11-73M7.6,intron_variant,,ENST00000623791,;RP11-73M7.6,intron_variant,,ENST00000609373,;RP11-73M7.6,intron_variant,,ENST00000608246,;RP11-73M7.6,intron_variant,,ENST00000593188,;RP11-73M7.6,intron_variant,,ENST00000623425,;RP11-73M7.6,intron_variant,,ENST00000608888,;RP11-73M7.6,intron_variant,,ENST00000624388,;RP11-73M7.6,intron_variant,,ENST00000608332,;RP11-73M7.6,intron_variant,,ENST00000591592,;RP11-73M7.6,intron_variant,,ENST00000609338,;RP11-73M7.6,upstream_gene_variant,,ENST00000623786,;RP11-73M7.6,upstream_gene_variant,,ENST00000588288,;RP11-73M7.6,upstream_gene_variant,,ENST00000445166,;COL16A1,non_coding_transcript_exon_variant,,ENST00000461217,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488128,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488897,;	A	ENST00000373672	Transcript	missense_variant	4724/5736	4207/4815	1403/1604	P/S	Ccg/Tcg		1		-1	COL16A1	HGNC	HGNC:2193	protein_coding	YES	CCDS41297.1	ENSP00000362776	Q07092		UPI0000203DD1	NM_001856.3	tolerated(0.57)		67/71		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	31655397	31655397	G	A	1	0	0	0	0	1	0	0	0	3461	1261	44	3		3	COL16A1	1	31655397	Missense_Mutation	SNP	G	C3L-00095_TP	5310840	31655397	217301025	15	3396											
KHDRBS1	0	.	GRCh38	chr1	32037929	32037929	+	Frame_Shift_Del	DEL	C	C	-																															ccactgtgactcgaggcgtgCcacccccacctactgtgagg																								novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1001delC	p.Pro334HisfsTer6	p.P334Hfs*6	ENST00000327300	6/9	320	304	16	348	348	0	varindel-pindel	KHDRBS1,frameshift_variant,p.Pro334HisfsTer6,ENST00000327300,NM_006559.2;KHDRBS1,frameshift_variant,p.Pro295HisfsTer6,ENST00000492989,NM_001271878.1;KHDRBS1,non_coding_transcript_exon_variant,,ENST00000307714,;KHDRBS1,non_coding_transcript_exon_variant,,ENST00000484270,;	-	ENST00000327300	Transcript	frameshift_variant	1167/2757	1000/1332	334/443	P/X	Cca/ca		1		1	KHDRBS1	HGNC	HGNC:18116	protein_coding	YES	CCDS350.1	ENSP00000313829	Q07666		UPI0000073DA7	NM_006559.2			6/9		hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF30,Low_complexity_(Seg):seg																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	10	32037929	32037929	C	-	1	0	1	0	1	0	0	0	0	8067	739	26	0		0	KHDRBS1	1	32037929	Frame_Shift_Del	DEL	C	C3L-00095_TP	382532	32037929	216918493	16	3397											
TMEM39B	0	.	GRCh38	chr1	32076818	32076818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaccatcgttctgggccGccgcttcattgggtccatcg	5	10	11	15	4	2	0	1	0	1	0	5	1	3	0	5	2	0	2	5	2	0	3	rs756802102		C3L-00095_TP	C3L-00095_NB	G	G																c.407G>T	p.Arg136Leu	p.R136L	ENST00000336294	4/9	336	312	24	382	381	1	strelka-varscan-mutect	TMEM39B,missense_variant,p.Arg136Leu,ENST00000336294,NM_018056.2;TMEM39B,intron_variant,,ENST00000438825,;RP11-277A4.4,upstream_gene_variant,,ENST00000366152,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000487305,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000476968,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000468135,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000472503,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000498613,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000466321,;TMEM39B,intron_variant,,ENST00000441402,NM_001319678.1,NM_001319679.1;	T	ENST00000336294	Transcript	missense_variant	553/1813	407/1479	136/492	R/L	cGc/cTc	rs756802102	1		1	TMEM39B	HGNC	HGNC:25510	protein_coding	YES	CCDS351.2	ENSP00000338165	Q9GZU3		UPI0000037B9F	NM_018056.2	deleterious(0)		4/9		Pfam_domain:PF10271,hmmpanther:PTHR12995,hmmpanther:PTHR12995:SF2,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs756802102	.												T	3	4	10	32076818	32076818	G	T	1	0	0	0	0	1	0	0	0	16639	1087	38	1		1	TMEM39B	1	32076818	Missense_Mutation	SNP	G	C3L-00095_TP	38889	32076818	216879604	17	3398											
KPNA6	0	.	GRCh38	chr1	32157365	32157365	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagtgtgatcacaagagAgatggtggagatgctctttt	11	11	15	4	0	2	5	1	1	1	4	2	8	2	5	0	3	1	1	0	3	1	2	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.251A>T	p.Glu84Val	p.E84V	ENST00000373625	4/14	125	112	13	129	129	0	strelka-mutect	KPNA6,missense_variant,p.Glu84Val,ENST00000373625,NM_012316.4;KPNA6,missense_variant,p.Glu35Val,ENST00000446515,;KPNA6,non_coding_transcript_exon_variant,,ENST00000469790,;KPNA6,missense_variant,p.Glu78Val,ENST00000471599,;	T	ENST00000373625	Transcript	missense_variant	344/7378	251/1611	84/536	E/V	gAg/gTg		1		1	KPNA6	HGNC	HGNC:6399	protein_coding	YES	CCDS352.1	ENSP00000362728	O60684		UPI000006D3B6	NM_012316.4	deleterious(0.02)		4/14		hmmpanther:PTHR23316:SF8,hmmpanther:PTHR23316,PIRSF_domain:PIRSF005673,Gene3D:1.25.10.10,Pfam_domain:PF01749,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	32157365	32157365	A	T	1	0	0	0	0	1	0	0	0	8314	304	11	4		4	KPNA6	1	32157365	Missense_Mutation	SNP	A	C3L-00095_TP	80547	32157365	216799057	18	3399											
CSMD2	0	.	GRCh38	chr1	33541206	33541206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatactctatgtgactccatCatatagccagggacacactg	12	10	8	11	0	2	1	1	1	1	0	3	3	3	2	2	1	2	0	2	1	4	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.9381G>T	p.Met3127Ile	p.M3127I	ENST00000373381	59/71	254	235	19	301	300	1	strelka-varscan-mutect	CSMD2,missense_variant,p.Met3127Ile,ENST00000373381,NM_001281956.1;CSMD2,missense_variant,p.Met3087Ile,ENST00000619121,;CSMD2,missense_variant,p.Met2983Ile,ENST00000373388,NM_052896.4;CSMD2,missense_variant,p.Met2983Ile,ENST00000241312,;	A	ENST00000373381	Transcript	missense_variant	9558/13698	9381/10896	3127/3631	M/I	atG/atT		1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1	tolerated(0.3)		59/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF371,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	33541206	33541206	C	A	1	0	0	0	0	1	0	0	0	3746	826	29	2		2	CSMD2	1	33541206	Missense_Mutation	SNP	C	C3L-00095_TP	1383841	33541206	215415216	19	3400											
C1orf94	0	.	GRCh38	chr1	34202195	34202195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgaaccagccactctGgctcaacctgaactatccac	12	7	5	17	0	2	2	1	2	1	0	3	2	3	2	5	1	5	1	5	1	5	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1382G>T	p.Trp461Leu	p.W461L	ENST00000488417	4/7	152	140	12	238	238	0	strelka-varscan-mutect	C1orf94,missense_variant,p.Trp461Leu,ENST00000488417,NM_001134734.1;C1orf94,missense_variant,p.Trp271Leu,ENST00000373374,NM_032884.4;	T	ENST00000488417	Transcript	missense_variant	1502/2287	1382/1797	461/598	W/L	tGg/tTg		1		1	C1orf94	HGNC	HGNC:28250	protein_coding	YES	CCDS44108.1	ENSP00000435634	Q6P1W5		UPI0000D4BFB0	NM_001134734.1	tolerated(0.09)		4/7		Low_complexity_(Seg):seg,hmmpanther:PTHR35674,hmmpanther:PTHR35674:SF1,Pfam_domain:PF15752																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	34202195	34202195	G	T	1	0	0	0	0	1	0	0	0	2000	1357	47	2		2	C1orf94	1	34202195	Missense_Mutation	SNP	G	C3L-00095_TP	660989	34202195	214754227	20	3401											
CLSPN	0	.	GRCh38	chr1	35749779	35749779	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttttcatcttttgtttcTatttcttcactactaagaag	8	22	3	8	0	6	1	2	0	4	1	6	1	6	1	0	0	1	1	0	0	4	10	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.2061A>G	p.Ile687Met	p.I687M	ENST00000318121	11/25	88	79	9	97	97	0	varscan-mutect	CLSPN,missense_variant,p.Ile687Met,ENST00000251195,;CLSPN,missense_variant,p.Ile687Met,ENST00000318121,NM_022111.3;CLSPN,missense_variant,p.Ile623Met,ENST00000373220,NM_001190481.1;CLSPN,intron_variant,,ENST00000520551,;CLSPN,upstream_gene_variant,,ENST00000517467,;	C	ENST00000318121	Transcript	missense_variant	2119/4169	2061/4020	687/1339	I/M	atA/atG		1		-1	CLSPN	HGNC	HGNC:19715	protein_coding	YES	CCDS396.1	ENSP00000312995	Q9HAW4		UPI0000161087	NM_022111.3	tolerated(0.08)		11/25		hmmpanther:PTHR14396:SF10,hmmpanther:PTHR14396																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	35749779	35749779	T	C	1	0	0	0	0	1	0	0	0	3332	1512	53	5		5	CLSPN	1	35749779	Missense_Mutation	SNP	T	C3L-00095_TP	1547584	35749779	213206643	21	3402											
GRIK3	0	.	GRCh38	chr1	36825804	36825804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaacatgggtgatggtcaggGgggccacggccagatctgcc	8	6	17	10	1	2	2	1	1	1	1	2	3	2	2	3	6	2	0	3	6	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1553C>A	p.Pro518His	p.P518H	ENST00000373091	11/16	60	50	10	54	53	1	strelka-varscan-mutect	GRIK3,missense_variant,p.Pro518His,ENST00000373091,NM_000831.3;GRIK3,missense_variant,p.Pro518His,ENST00000373093,;	T	ENST00000373091	Transcript	missense_variant	1570/9101	1553/2760	518/919	P/H	cCc/cAc		1		-1	GRIK3	HGNC	HGNC:4581	protein_coding	YES	CCDS416.1	ENSP00000362183	Q13003		UPI000013E311	NM_000831.3	deleterious(0)		11/16		Gene3D:3.40.190.10,Pfam_domain:PF10613,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF174,SMART_domains:SM00079,Superfamily_domains:SSF53850																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	36825804	36825804	G	T	1	0	0	0	0	1	0	0	0	6657	1232	43	2		2	GRIK3	1	36825804	Missense_Mutation	SNP	G	C3L-00095_TP	1076025	36825804	212130618	22	3403											
KCNQ4	0	.	GRCh38	chr1	40831299	40831299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcaaaccccgcacctctgCtgagggtaagcccccggggg	8	5	12	16	2	2	1	1	1	1	0	2	1	2	1	5	3	3	3	5	3	2	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1508C>T	p.Ala503Val	p.A503V	ENST00000347132	10/14	137	129	8	157	157	0	strelka-mutect	KCNQ4,missense_variant,p.Ala503Val,ENST00000347132,NM_004700.3;KCNQ4,missense_variant,p.Ala364Val,ENST00000443478,;KCNQ4,missense_variant,p.Ala449Val,ENST00000509682,NM_172163.2;KCNQ4,non_coding_transcript_exon_variant,,ENST00000506017,;	T	ENST00000347132	Transcript	missense_variant	1590/4099	1508/2088	503/695	A/V	gCt/gTt		1		1	KCNQ4	HGNC	HGNC:6298	protein_coding	YES	CCDS456.1	ENSP00000262916	P56696		UPI000013D35B	NM_004700.3	tolerated(0.32)		10/14		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF4,Pfam_domain:PF03520																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	40831299	40831299	C	T	1	0	0	0	0	1	0	0	0	8001	811	28	3		3	KCNQ4	1	40831299	Missense_Mutation	SNP	C	C3L-00095_TP	4005495	40831299	208125123	23	3404											
SCMH1	0	.	GRCh38	chr1	41143024	41143024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtcagtccaactactGtggcaatacaggtggatgtg	10	10	11	10	0	1	0	1	0	0	0	2	1	2	1	2	3	3	1	2	3	4	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.236C>A	p.Thr79Lys	p.T79K	ENST00000326197	5/15	241	222	19	332	332	0	strelka-varscan-mutect	SCMH1,missense_variant,p.Thr18Lys,ENST00000372596,NM_001172220.1,NM_001172218.1;SCMH1,missense_variant,p.Thr79Lys,ENST00000326197,NM_001031694.2;SCMH1,missense_variant,p.Thr32Lys,ENST00000372597,NM_012236.3;SCMH1,missense_variant,p.Thr18Lys,ENST00000372595,NM_001172221.1;SCMH1,missense_variant,p.Thr18Lys,ENST00000402904,;SCMH1,missense_variant,p.Thr18Lys,ENST00000397171,;SCMH1,missense_variant,p.Thr32Lys,ENST00000361705,;SCMH1,missense_variant,p.Thr89Lys,ENST00000337495,NM_001172219.1;SCMH1,missense_variant,p.Thr79Lys,ENST00000397174,;SCMH1,missense_variant,p.Thr18Lys,ENST00000361191,;SCMH1,missense_variant,p.Thr32Lys,ENST00000456518,NM_001172222.1;	T	ENST00000326197	Transcript	missense_variant	536/3275	236/1983	79/660	T/K	aCa/aAa		1		-1	SCMH1	HGNC	HGNC:19003	protein_coding	YES	CCDS30688.1	ENSP00000318094	Q96GD3		UPI000006FD9B	NM_001031694.2	deleterious(0)		5/15		PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF68,Gene3D:2.30.30.160,Pfam_domain:PF02820,SMART_domains:SM00561,Superfamily_domains:SSF63748																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	41143024	41143024	G	T	1	0	0	0	0	1	0	0	0	14177	1377	48	2		2	SCMH1	1	41143024	Missense_Mutation	SNP	G	C3L-00095_TP	311725	41143024	207813398	24	3405											
P3H1	0	.	GRCh38	chr1	42766636	42766636	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggcagcgcgacgcagaagGcccccgaagaagctcaggtc	11	2	14	14	4	1	2	1	0	0	2	2	4	1	2	2	3	2	3	2	3	3	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.336C>T	p.=	p.G112G	ENST00000236040	1/14	169	150	19	207	207	0	strelka-varscan-mutect	P3H1,synonymous_variant,p.=,ENST00000236040,NM_001243246.1;P3H1,synonymous_variant,p.=,ENST00000397054,NM_001146289.1;P3H1,synonymous_variant,p.=,ENST00000296388,NM_022356.3;P3H1,synonymous_variant,p.=,ENST00000372526,;C1orf50,upstream_gene_variant,,ENST00000372525,NM_024097.3;C1orf50,upstream_gene_variant,,ENST00000468913,;P3H1,non_coding_transcript_exon_variant,,ENST00000492956,;P3H1,non_coding_transcript_exon_variant,,ENST00000495874,;P3H1,non_coding_transcript_exon_variant,,ENST00000460031,;RP5-994D16.12,upstream_gene_variant,,ENST00000603943,;P3H1,upstream_gene_variant,,ENST00000463465,;RP5-994D16.12,upstream_gene_variant,,ENST00000464081,;	A	ENST00000236040	Transcript	synonymous_variant	377/2993	336/2415	112/804	G	ggC/ggT		1		-1	P3H1	HGNC	HGNC:19316	protein_coding	YES	CCDS57986.1	ENSP00000236040	Q32P28		UPI000013E32E	NM_001243246.1			1/14		hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF5,Low_complexity_(Seg):seg																	LOW		SNV	2			1										PASS		.	.												A	2	1	10	42766636	42766636	G	A	1	0	0	0	0	0	0	0	1	11429	1190	42	3		3	P3H1	1	42766636	Silent	SNP	G	C3L-00095_TP	1623612	42766636	206189786	25	3406											
IPO13	0	.	GRCh38	chr1	43967619	43967619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaggcgggtgaaggagatGgtgaaggagttcacactgct	12	7	17	5	1	1	4	1	2	0	2	1	6	1	5	0	5	1	2	0	5	3	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2829G>T	p.Met943Ile	p.M943I	ENST00000372343	20/20	268	252	16	364	364	0	strelka-varscan-mutect	IPO13,missense_variant,p.Met943Ile,ENST00000372343,NM_014652.3;IPO13,missense_variant,p.Met161Ile,ENST00000372339,;DPH2,upstream_gene_variant,,ENST00000255108,NM_001319165.1,NM_001384.4;DPH2,upstream_gene_variant,,ENST00000396758,NM_001039589.1;DPH2,upstream_gene_variant,,ENST00000459879,;IPO13,non_coding_transcript_exon_variant,,ENST00000486876,;DPH2,upstream_gene_variant,,ENST00000529729,;DPH2,upstream_gene_variant,,ENST00000477294,;DPH2,upstream_gene_variant,,ENST00000471934,;DPH2,upstream_gene_variant,,ENST00000495421,NM_001319168.1;DPH2,upstream_gene_variant,,ENST00000524776,;DPH2,upstream_gene_variant,,ENST00000490861,;DPH2,upstream_gene_variant,,ENST00000476260,;DPH2,upstream_gene_variant,,ENST00000492306,;DPH2,upstream_gene_variant,,ENST00000527567,;DPH2,upstream_gene_variant,,ENST00000534786,;DPH2,upstream_gene_variant,,ENST00000527319,;DPH2,upstream_gene_variant,,ENST00000530988,;DPH2,upstream_gene_variant,,ENST00000534655,;DPH2,upstream_gene_variant,,ENST00000532140,;	T	ENST00000372343	Transcript	missense_variant	3491/3894	2829/2892	943/963	M/I	atG/atT		1		1	IPO13	HGNC	HGNC:16853	protein_coding	YES	CCDS503.1	ENSP00000361418	O94829		UPI0000073F11	NM_014652.3	tolerated(0.78)		20/20		hmmpanther:PTHR12363:SF29,hmmpanther:PTHR12363																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	43967619	43967619	G	T	1	0	0	0	0	1	0	0	0	7697	1348	47	2		2	IPO13	1	43967619	Missense_Mutation	SNP	G	C3L-00095_TP	1200983	43967619	204988803	26	3407											
STIL	0	.	GRCh38	chr1	47301589	47301589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactgaagtcatctacaCtgtgaactatcatttctctt	11	15	5	10	0	4	3	2	3	2	0	5	3	4	3	0	0	3	0	0	0	5	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.425G>A	p.Ser142Asn	p.S142N	ENST00000371877	5/17	355	332	23	282	282	0	strelka-varscan-mutect	STIL,missense_variant,p.Ser142Asn,ENST00000360380,NM_001282936.1,NM_003035.2;STIL,missense_variant,p.Ser142Asn,ENST00000337817,NM_001282939.1,NM_001282938.1;STIL,missense_variant,p.Ser142Asn,ENST00000371877,NM_001048166.1;STIL,missense_variant,p.Ser142Asn,ENST00000396221,NM_001282937.1;STIL,missense_variant,p.Ser142Asn,ENST00000447475,;STIL,downstream_gene_variant,,ENST00000413565,;STIL,non_coding_transcript_exon_variant,,ENST00000433827,;	T	ENST00000371877	Transcript	missense_variant	573/5009	425/3867	142/1288	S/N	aGt/aAt		1		-1	STIL	HGNC	HGNC:10879	protein_coding	YES	CCDS41329.1	ENSP00000360944	Q15468		UPI00002042D5	NM_001048166.1	tolerated(0.72)		5/17		Pfam_domain:PF15253,hmmpanther:PTHR15128,hmmpanther:PTHR15128:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	47301589	47301589	C	T	1	0	0	0	0	1	0	0	0	15659	565	20	3		3	STIL	1	47301589	Missense_Mutation	SNP	C	C3L-00095_TP	3333970	47301589	201654833	27	3408											
TRABD2B	0	.	GRCh38	chr1	47765961	47765961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatggtggtggcgatggcggGgagaaggcccagggtgggtg	6	6	24	5	2	0	1	0	0	0	1	0	4	0	1	1	9	0	0	1	9	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1495C>A	p.Pro499Thr	p.P499T	ENST00000606738	7/7	122	110	12	185	185	0	strelka-varscan-mutect	TRABD2B,missense_variant,p.Pro499Thr,ENST00000606738,NM_001194986.1;RP11-543D5.2,upstream_gene_variant,,ENST00000438589,;	T	ENST00000606738	Transcript	missense_variant	1601/7034	1495/1554	499/517	P/T	Ccc/Acc		1		-1	TRABD2B	HGNC	HGNC:44200	protein_coding	YES	CCDS58000.1	ENSP00000476820	A6NFA1		UPI00017BE8EF	NM_001194986.1	tolerated_low_confidence(0.25)		7/7		hmmpanther:PTHR31120:SF8,hmmpanther:PTHR31120																	MODERATE	1	SNV	1			1										PASS		rs1191453504	.												T	3	4	10	47765961	47765961	G	T	1	0	0	0	0	1	0	0	0	16918	1232	43	2		2	TRABD2B	1	47765961	Missense_Mutation	SNP	G	C3L-00095_TP	464372	47765961	201190461	28	3409											
CDCP2	0	.	GRCh38	chr1	54139788	54139788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagaagcccctgcgggtgGtgctgcggtctgtgtgcagc	5	8	17	11	2	1	1	0	0	1	1	1	2	1	1	2	3	6	2	2	3	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1082C>A	p.Thr361Asn	p.T361N	ENST00000371330	4/4	242	213	29	376	375	1	strelka-varscan-mutect	CDCP2,missense_variant,p.Thr361Asn,ENST00000371330,NM_201546.3;CDCP2,missense_variant,p.Thr361Asn,ENST00000530059,;RP11-446E24.3,non_coding_transcript_exon_variant,,ENST00000623663,;RP11-446E24.4,downstream_gene_variant,,ENST00000525949,;RP11-446E24.4,3_prime_UTR_variant,,ENST00000637610,;RP11-446E24.4,downstream_gene_variant,,ENST00000311841,;	T	ENST00000371330	Transcript	missense_variant	1930/2723	1082/1350	361/449	T/N	aCc/aAc		1		-1	CDCP2	HGNC	HGNC:27297	protein_coding	YES	CCDS588.2	ENSP00000360381	Q5VXM1		UPI0000458963	NM_201546.3	deleterious(0.02)		4/4		PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF41,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	2			1										PASS		rs1170920516	.												T	3	4	10	54139788	54139788	G	T	1	0	0	0	0	1	0	0	0	2797	1261	44	2		2	CDCP2	1	54139788	Missense_Mutation	SNP	G	C3L-00095_TP	6373827	54139788	194816634	29	3410											
ANGPTL3	0	.	GRCh38	chr1	62597654	62597654	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatcatttgattctctaTctccagagccaaaatcaaga	14	13	4	10	0	5	3	3	1	2	2	7	3	5	3	2	0	1	0	2	0	4	4	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.88T>G	p.Ser30Ala	p.S30A	ENST00000371129	1/7	192	174	18	169	169	0	strelka-varscan-mutect	ANGPTL3,missense_variant,p.Ser30Ala,ENST00000371129,NM_014495.3;DOCK7,intron_variant,,ENST00000251157,;DOCK7,intron_variant,,ENST00000454575,NM_001271999.1;DOCK7,intron_variant,,ENST00000340370,NM_033407.3;DOCK7,intron_variant,,ENST00000635253,;DOCK7,intron_variant,,ENST00000634264,NM_001272000.1;DOCK7,intron_variant,,ENST00000635123,NM_001272001.1;DOCK7,intron_variant,,ENST00000404627,NM_001272002.1;DOCK7,intron_variant,,ENST00000637227,;ANGPTL3,upstream_gene_variant,,ENST00000493994,;ANGPTL3,upstream_gene_variant,,ENST00000482591,;DOCK7,intron_variant,,ENST00000637208,;DOCK7,intron_variant,,ENST00000614472,;DOCK7,intron_variant,,ENST00000634223,;	G	ENST00000371129	Transcript	missense_variant	168/2805	88/1383	30/460	S/A	Tct/Gct		1		1	ANGPTL3	HGNC	HGNC:491	protein_coding	YES	CCDS622.1	ENSP00000360170	Q9Y5C1		UPI000003722C	NM_014495.3	tolerated(0.31)		1/7		hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF222																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	62597654	62597654	T	G	1	0	0	0	0	1	0	0	0	713	1435	50	5		5	ANGPTL3	1	62597654	Missense_Mutation	SNP	T	C3L-00095_TP	8457866	62597654	186358768	30	3411											
LEPR	0	.	GRCh38	chr1	65636552	65636552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatagttcagtcaccaagtGcttctctagcaaaaattctc	14	12	5	10	0	4	0	2	0	2	0	6	0	4	0	1	0	2	3	1	0	6	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.3035G>A	p.Cys1012Tyr	p.C1012Y	ENST00000349533	20/20	223	205	18	216	216	0	strelka-varscan-mutect	LEPR,missense_variant,p.Cys1012Tyr,ENST00000349533,NM_002303.5;LEPR,missense_variant,p.Cys79Tyr,ENST00000406510,;LEPR,downstream_gene_variant,,ENST00000371060,NM_001003679.3;LEPR,downstream_gene_variant,,ENST00000616738,NM_001198689.1;	A	ENST00000349533	Transcript	missense_variant	3220/8227	3035/3498	1012/1165	C/Y	tGc/tAc		1		1	LEPR	HGNC	HGNC:6554	protein_coding	YES	CCDS631.1	ENSP00000330393	P48357		UPI000014C37B	NM_002303.5	deleterious(0.05)		20/20		hmmpanther:PTHR23036:SF109,hmmpanther:PTHR23036																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	65636552	65636552	G	A	1	0	0	0	0	1	0	0	0	8636	1319	46	3		3	LEPR	1	65636552	Missense_Mutation	SNP	G	C3L-00095_TP	3038898	65636552	183319870	31	3412											
PDE4B	0	.	GRCh38	chr1	66257830	66257830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtgagaaacaacttcaCtatactgacaaaccttcatg	16	10	6	9	0	2	2	2	2	0	1	2	3	2	2	1	0	4	0	1	0	6	4	rs773736586		C3L-00095_TP	C3L-00095_NB	C	C																c.551C>A	p.Thr184Asn	p.T184N	ENST00000329654	6/17	263	244	19	227	227	0	strelka-varscan-mutect	PDE4B,missense_variant,p.Thr169Asn,ENST00000423207,NM_001037340.2;PDE4B,missense_variant,p.Thr184Asn,ENST00000329654,NM_001297440.1,NM_001037341.1,NM_001297441.1;PDE4B,missense_variant,p.Thr184Asn,ENST00000341517,NM_002600.3;PDE4B,missense_variant,p.Thr92Asn,ENST00000412480,;PDE4B,missense_variant,p.Thr26Asn,ENST00000491340,;PDE4B,non_coding_transcript_exon_variant,,ENST00000371048,;PDE4B,non_coding_transcript_exon_variant,,ENST00000490695,;	A	ENST00000329654	Transcript	missense_variant	738/3998	551/2211	184/736	T/N	aCt/aAt	rs773736586	1		1	PDE4B	HGNC	HGNC:8781	protein_coding	YES	CCDS632.1	ENSP00000332116	Q07343	X5DNX5	UPI0000127BF6	NM_001297440.1,NM_001037341.1,NM_001297441.1	deleterious(0.04)		6/17		hmmpanther:PTHR11347:SF108,hmmpanther:PTHR11347																	MODERATE	1	SNV	1			1										PASS		rs773736586	.												A	3	1	10	66257830	66257830	C	A	1	0	0	0	0	1	0	0	0	11728	565	20	2		2	PDE4B	1	66257830	Missense_Mutation	SNP	C	C3L-00095_TP	621278	66257830	182698592	32	3413											
LRRC7	0	.	GRCh38	chr1	70038976	70038976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgctcacctacggaagtaGtaaggggccacaacaacaaa	16	5	10	10	1	1	0	1	0	0	0	1	2	1	1	2	3	4	3	2	3	7	3			C3L-00095_TP	C3L-00095_NB	G	G																c.3038G>T	p.Ser1013Ile	p.S1013I	ENST00000035383	19/25	276	255	21	277	276	1	strelka-varscan-mutect	LRRC7,missense_variant,p.Ser1018Ile,ENST00000310961,;LRRC7,missense_variant,p.Ser1013Ile,ENST00000035383,NM_020794.2;LRRC7,missense_variant,p.Ser297Ile,ENST00000415775,;	T	ENST00000035383	Transcript	missense_variant	3068/5000	3038/4614	1013/1537	S/I	aGt/aTt	COSM426651	1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2	deleterious(0.04)		19/25													1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	10	70038976	70038976	G	T	1	0	0	0	0	1	0	0	0	8916	1029	36	2		2	LRRC7	1	70038976	Missense_Mutation	SNP	G	C3L-00095_TP	3781146	70038976	178917446	33	3414											
NEGR1	0	.	GRCh38	chr1	71407479	71407479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattcttcaggtagaatatGctggtgaaagaggacagtgt	12	11	13	5	0	2	3	1	1	1	2	2	4	2	4	0	3	1	3	0	3	4	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1032C>A	p.Ser344Arg	p.S344R	ENST00000357731	7/7	214	199	15	202	202	0	strelka-varscan-mutect	NEGR1,missense_variant,p.Ser344Arg,ENST00000357731,NM_173808.2;NEGR1,missense_variant,p.Ser216Arg,ENST00000306821,;ZRANB2-AS2,intron_variant,,ENST00000628450,;ZRANB2-AS2,intron_variant,,ENST00000628635,;ZRANB2-AS2,intron_variant,,ENST00000627548,;ZRANB2-AS2,intron_variant,,ENST00000630350,;ZRANB2-AS2,intron_variant,,ENST00000628797,;ZRANB2-AS2,intron_variant,,ENST00000630994,;ZRANB2-AS2,intron_variant,,ENST00000599146,;ZRANB2-AS2,intron_variant,,ENST00000600103,;ZRANB2-AS2,intron_variant,,ENST00000630926,;ZRANB2-AS2,intron_variant,,ENST00000627902,;ZRANB2-AS2,intron_variant,,ENST00000627516,;ZRANB2-AS2,intron_variant,,ENST00000628670,;ZRANB2-AS2,intron_variant,,ENST00000594152,;ZRANB2-AS2,intron_variant,,ENST00000630885,;ZRANB2-AS2,intron_variant,,ENST00000583678,;ZRANB2-AS2,intron_variant,,ENST00000626510,;ZRANB2-AS2,intron_variant,,ENST00000625896,;ZRANB2-AS2,intron_variant,,ENST00000628683,;ZRANB2-AS2,intron_variant,,ENST00000608579,;ZRANB2-AS2,intron_variant,,ENST00000430605,;ZRANB2-AS2,upstream_gene_variant,,ENST00000623721,;ZRANB2-AS2,upstream_gene_variant,,ENST00000586006,;ZRANB2-AS2,upstream_gene_variant,,ENST00000585499,;ZRANB2-AS2,upstream_gene_variant,,ENST00000585415,;ZRANB2-AS2,upstream_gene_variant,,ENST00000590186,;ZRANB2-AS2,upstream_gene_variant,,ENST00000587306,;ZRANB2-AS2,upstream_gene_variant,,ENST00000587066,;NEGR1,downstream_gene_variant,,ENST00000474357,;	T	ENST00000357731	Transcript	missense_variant	1272/12811	1032/1065	344/354	S/R	agC/agA		1		-1	NEGR1	HGNC	HGNC:17302	protein_coding	YES	CCDS661.1	ENSP00000350364	Q7Z3B1		UPI00000477EE	NM_173808.2	tolerated(0.18)		7/7																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	71407479	71407479	G	T	1	0	0	0	0	1	0	0	0	10345	1310	46	2		2	NEGR1	1	71407479	Missense_Mutation	SNP	G	C3L-00095_TP	1368503	71407479	177548943	34	3415											
LRRIQ3	0	.	GRCh38	chr1	74041401	74041401	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataaacgctctgaagccttTtgggatttttcttttagaaa	12	16	7	6	1	2	2	0	1	2	1	2	3	2	3	1	1	2	1	1	1	6	7	rs756749538		C3L-00095_TP	C3L-00095_NB	T	T																c.1530A>T	p.Gln510His	p.Q510H	ENST00000354431	7/8	226	210	16	215	215	0	strelka-varscan-mutect	LRRIQ3,missense_variant,p.Gln510His,ENST00000354431,NM_001105659.1;LRRIQ3,missense_variant,p.Gln510His,ENST00000395089,;LRRIQ3,intron_variant,,ENST00000417067,;LRRIQ3,intron_variant,,ENST00000415760,;	A	ENST00000354431	Transcript	missense_variant	1722/2849	1530/1875	510/624	Q/H	caA/caT	rs756749538	1		-1	LRRIQ3	HGNC	HGNC:28318	protein_coding	YES	CCDS41350.1	ENSP00000346414	A6PVS8		UPI000155D493	NM_001105659.1	deleterious(0.04)		7/8																			MODERATE	1	SNV	5			1										PASS		rs756749538	.												A	3	1	10	74041401	74041401	T	A	1	0	0	0	0	1	0	0	0	8936	1838	64	4		4	LRRIQ3	1	74041401	Missense_Mutation	SNP	T	C3L-00095_TP	2633922	74041401	174915021	35	3416											
FPGT	0	.	GRCh38	chr1	74205724	74205724	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcattcagcctgaatagctaTaagttgctgtccattgaaga	12	12	9	8	0	1	3	1	2	0	1	2	3	2	3	2	0	3	4	2	0	5	6	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.1716T>A	p.Tyr572Ter	p.Y572*	ENST00000370898	4/4	180	165	15	146	146	0	strelka-varscan-mutect	FPGT,stop_gained,p.Tyr572Ter,ENST00000370898,NM_003838.4;FPGT,stop_gained,p.Tyr305Ter,ENST00000534056,NM_001199328.2;FPGT,3_prime_UTR_variant,,ENST00000370894,NM_001199329.2;FPGT-TNNI3K,intron_variant,,ENST00000370895,;FPGT-TNNI3K,intron_variant,,ENST00000557284,NM_001112808.2;FPGT-TNNI3K,intron_variant,,ENST00000370899,NM_001199327.1;FPGT-TNNI3K,intron_variant,,ENST00000370893,;FPGT-TNNI3K,intron_variant,,ENST00000534632,;FPGT,downstream_gene_variant,,ENST00000467578,;FPGT,downstream_gene_variant,,ENST00000482102,;FPGT,downstream_gene_variant,,ENST00000472069,;FPGT,intron_variant,,ENST00000524915,;FPGT-TNNI3K,intron_variant,,ENST00000533006,;FPGT,downstream_gene_variant,,ENST00000529485,;	A	ENST00000370898	Transcript	stop_gained	1744/3254	1716/1824	572/607	Y/*	taT/taA		1		1	FPGT	HGNC	HGNC:3825	protein_coding	YES	CCDS663.2	ENSP00000359935		A0A0A0MRP2	UPI0003348FC3	NM_003838.4			4/4		PIRSF_domain:PIRSF036640,hmmpanther:PTHR15045																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	10	74205724	74205724	T	A	1	0	0	0	0	0	1	0	0	5903	1413	49	4		4	FPGT	1	74205724	Nonsense_Mutation	SNP	T	C3L-00095_TP	164323	74205724	174750698	36	3417											
ERICH3	0	.	GRCh38	chr1	74589787	74589787	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatctcttgggttcctttctCcgttccttctttaagaacat	7	18	5	11	1	3	1	0	0	3	1	7	1	5	1	3	1	1	2	3	1	3	7			C3L-00095_TP	C3L-00095_NB	C	C																c.2020G>T	p.Glu674Ter	p.E674*	ENST00000326665	12/15	286	266	20	357	357	0	strelka-varscan-mutect	ERICH3,stop_gained,p.Glu674Ter,ENST00000326665,NM_001002912.4;ERICH3,stop_gained,p.Glu477Ter,ENST00000420661,;ERICH3-AS1,non_coding_transcript_exon_variant,,ENST00000416017,;ERICH3-AS1,intron_variant,,ENST00000612390,;ERICH3-AS1,upstream_gene_variant,,ENST00000620678,;	A	ENST00000326665	Transcript	stop_gained	2239/7159	2020/4593	674/1530	E/*	Gag/Tag	COSM5694949,COSM5694950	1		-1	ERICH3	HGNC	HGNC:25346	protein_coding	YES	CCDS30755.1	ENSP00000322609	Q5RHP9		UPI0000237200	NM_001002912.4			12/15		hmmpanther:PTHR23034											1,1						HIGH		SNV	5		1,1	1										PASS		rs1274251958	.												A	4	1	10	74589787	74589787	C	A	1	0	0	0	0	0	1	0	0	5083	864	30	2		2	ERICH3	1	74589787	Nonsense_Mutation	SNP	C	C3L-00095_TP	384063	74589787	174366635	37	3418											
ERICH3	0	.	GRCh38	chr1	74612628	74612628	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttgtttccatacttgtaGcaaggagatgatctctcaac	11	14	7	9	0	2	2	1	1	1	1	4	3	3	2	1	1	3	3	1	1	4	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1182C>G	p.Cys394Trp	p.C394W	ENST00000326665	9/15	86	75	11	139	139	0	strelka-varscan-mutect	ERICH3,missense_variant,p.Cys394Trp,ENST00000326665,NM_001002912.4;ERICH3,missense_variant,p.Cys197Trp,ENST00000420661,;ERICH3-AS1,intron_variant,,ENST00000612390,;ERICH3-AS1,intron_variant,,ENST00000416017,;ERICH3,downstream_gene_variant,,ENST00000479666,;	C	ENST00000326665	Transcript	missense_variant	1401/7159	1182/4593	394/1530	C/W	tgC/tgG		1		-1	ERICH3	HGNC	HGNC:25346	protein_coding	YES	CCDS30755.1	ENSP00000322609	Q5RHP9		UPI0000237200	NM_001002912.4	deleterious(0)		9/15		hmmpanther:PTHR23034,Pfam_domain:PF15257																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	10	74612628	74612628	G	C	1	0	0	0	0	1	0	0	0	5083	985	34	4		4	ERICH3	1	74612628	Missense_Mutation	SNP	G	C3L-00095_TP	22841	74612628	174343794	38	3419											
ERICH3	0	.	GRCh38	chr1	74620750	74620750	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacctttttcaagtagtttGcctttgtagacacaaaggtt	10	16	8	7	0	1	1	1	0	0	1	1	1	1	1	2	1	2	5	2	1	5	8	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.984C>A	p.=	p.G328G	ENST00000326665	8/15	100	87	13	89	89	0	strelka-varscan	ERICH3,synonymous_variant,p.=,ENST00000326665,NM_001002912.4;ERICH3,synonymous_variant,p.=,ENST00000420661,;ERICH3-AS1,intron_variant,,ENST00000612390,;ERICH3-AS1,intron_variant,,ENST00000416017,;ERICH3,3_prime_UTR_variant,,ENST00000479666,;	T	ENST00000326665	Transcript	synonymous_variant	1203/7159	984/4593	328/1530	G	ggC/ggA		1		-1	ERICH3	HGNC	HGNC:25346	protein_coding	YES	CCDS30755.1	ENSP00000322609	Q5RHP9		UPI0000237200	NM_001002912.4			8/15		hmmpanther:PTHR23034,Pfam_domain:PF15257																	LOW		SNV	5			1										PASS		.	.												T	2	4	10	74620750	74620750	G	T	1	0	0	0	0	0	0	0	1	5083	1306	46	2		2	ERICH3	1	74620750	Silent	SNP	G	C3L-00095_TP	8122	74620750	174335672	39	3420											
ADGRL2	0	.	GRCh38	chr1	81969283	81969283	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaccttctgctttttcCgtggcctacagagtgaccga	6	14	8	13	2	3	2	1	1	2	1	4	3	4	2	4	1	2	1	4	1	1	5	rs777702018		C3L-00095_TP	C3L-00095_NB	C	C																c.2578C>A	p.Arg860Ser	p.R860S	ENST00000319517	13/20	341	312	29	388	388	0	strelka-varscan-mutect	ADGRL2,missense_variant,p.Arg873Ser,ENST00000370728,;ADGRL2,missense_variant,p.Arg873Ser,ENST00000370730,;ADGRL2,missense_variant,p.Arg873Ser,ENST00000370717,;ADGRL2,missense_variant,p.Arg873Ser,ENST00000627151,;ADGRL2,missense_variant,p.Arg860Ser,ENST00000370715,NM_001297705.1;ADGRL2,missense_variant,p.Arg860Ser,ENST00000319517,NM_012302.3;ADGRL2,missense_variant,p.Arg860Ser,ENST00000370713,NM_001297706.1;ADGRL2,missense_variant,p.Arg873Ser,ENST00000370725,;ADGRL2,missense_variant,p.Arg860Ser,ENST00000370723,;ADGRL2,missense_variant,p.Arg873Ser,ENST00000370727,;ADGRL2,missense_variant,p.Arg798Ser,ENST00000370721,;ADGRL2,missense_variant,p.Arg860Ser,ENST00000359929,NM_001297704.1;ADGRL2,missense_variant,p.Arg741Ser,ENST00000449420,;ADGRL2,intron_variant,,ENST00000469377,;ADGRL2,downstream_gene_variant,,ENST00000468283,;	A	ENST00000319517	Transcript	missense_variant	2794/5479	2578/4212	860/1403	R/S	Cgt/Agt	rs777702018	1		1	ADGRL2	HGNC	HGNC:18582	protein_coding	YES	CCDS689.1	ENSP00000322270	O95490		UPI000005046B	NM_012302.3	deleterious(0.01)		13/20		PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF61,hmmpanther:PTHR12011,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249																	MODERATE	1	SNV	1			1										PASS		rs777702018	.												A	3	1	10	81969283	81969283	C	A	1	0	0	0	0	1	0	0	0	376	652	23	1		1	ADGRL2	1	81969283	Missense_Mutation	SNP	C	C3L-00095_TP	7348533	81969283	166987139	40	3421											
SYDE2	0	.	GRCh38	chr1	85159075	85159075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctccagtctcctgcataaCgattgctaagtggactgtct	8	13	9	11	1	2	0	0	0	2	0	4	2	3	1	2	1	4	3	2	1	2	3	rs753938811		C3L-00095_TP	C3L-00095_NB	C	C																c.3260G>T	p.Arg1087Leu	p.R1087L	ENST00000341460	7/7	498	458	40	498	496	2	strelka-varscan-mutect	SYDE2,missense_variant,p.Arg1087Leu,ENST00000341460,NM_032184.1;RP11-33E12.2,upstream_gene_variant,,ENST00000624216,;	A	ENST00000341460	Transcript	missense_variant	3310/5512	3260/3585	1087/1194	R/L	cGt/cTt	rs753938811	1		-1	SYDE2	HGNC	HGNC:25841	protein_coding	YES	CCDS44169.1	ENSP00000340594	Q5VT97		UPI0001553B04	NM_032184.1	deleterious(0)		7/7		hmmpanther:PTHR23176,hmmpanther:PTHR23176:SF47																	MODERATE	1	SNV	5			1										PASS		rs753938811	.												A	3	1	10	85159075	85159075	C	A	1	0	0	0	0	1	0	0	0	15826	536	19	1		1	SYDE2	1	85159075	Missense_Mutation	SNP	C	C3L-00095_TP	3189792	85159075	163797347	41	3422											
COL24A1	0	.	GRCh38	chr1	85744784	85744784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaaggtagttcagggttttGaatatctcttcactgtggtc	8	16	10	7	0	3	1	2	1	1	0	5	1	3	1	0	3	0	3	0	3	4	7			C3L-00095_TP	C3L-00095_NB	G	G																c.4554C>G	p.Phe1518Leu	p.F1518L	ENST00000370571	57/60	138	122	16	122	122	0	strelka-varscan-mutect	COL24A1,missense_variant,p.Phe1518Leu,ENST00000370571,NM_152890.5;COL24A1,3_prime_UTR_variant,,ENST00000426639,;COL24A1,upstream_gene_variant,,ENST00000473734,;	C	ENST00000370571	Transcript	missense_variant	4921/6825	4554/5145	1518/1714	F/L	ttC/ttG	COSM4495504	1		-1	COL24A1	HGNC	HGNC:20821	protein_coding	YES	CCDS41353.1	ENSP00000359603	Q17RW2		UPI000013E81F	NM_152890.5	tolerated(0.12)		57/60		Pfam_domain:PF01410,PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF590,SMART_domains:SM00038											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	10	85744784	85744784	G	C	1	0	0	0	0	1	0	0	0	3471	1281	45	4		4	COL24A1	1	85744784	Missense_Mutation	SNP	G	C3L-00095_TP	585709	85744784	163211638	42	3423											
LRRC8D	0	.	GRCh38	chr1	89933669	89933669	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacattttgtttcaatattaGgaaagtgctttgaatcccct	12	16	6	7	0	1	1	1	1	0	0	2	2	2	2	2	1	2	2	2	1	6	6	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.601G>T	p.Gly201Ter	p.G201*	ENST00000337338	3/3	263	231	32	328	327	1	strelka-varscan-mutect	LRRC8D,stop_gained,p.Gly201Ter,ENST00000337338,NM_001134479.1;LRRC8D,stop_gained,p.Gly201Ter,ENST00000394593,NM_018103.4;LRRC8D,stop_gained,p.Gly201Ter,ENST00000441269,;LRRC8D,downstream_gene_variant,,ENST00000527156,;LRRC8D,downstream_gene_variant,,ENST00000414841,;LRRC8D,downstream_gene_variant,,ENST00000532201,;LRRC8D,downstream_gene_variant,,ENST00000525774,;RP11-302M6.4,downstream_gene_variant,,ENST00000370453,;	T	ENST00000337338	Transcript	stop_gained	1008/3950	601/2577	201/858	G/*	Gga/Tga		1		1	LRRC8D	HGNC	HGNC:16992	protein_coding	YES	CCDS726.1	ENSP00000338887	Q7L1W4		UPI00001BBFBA	NM_001134479.1			3/3		Pfam_domain:PF12534																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	10	89933669	89933669	G	T	1	0	0	0	0	0	1	0	0	8928	1001	35	2		2	LRRC8D	1	89933669	Nonsense_Mutation	SNP	G	C3L-00095_TP	4188885	89933669	159022753	43	3424											
BARHL2	0	.	GRCh38	chr1	90716827	90716827	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccagctgctgggggggCggcggcggcggctgctgtgg	2	5	23	11	4	0	0	0	0	0	0	0	1	0	0	1	8	4	4	1	8	0	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.369G>T	p.=	p.P123P	ENST00000370445	1/3	197	176	21	263	263	0	strelka-varscan-mutect	BARHL2,synonymous_variant,p.=,ENST00000370445,NM_020063.1;	A	ENST00000370445	Transcript	synonymous_variant	411/1979	369/1164	123/387	P	ccG/ccT		1		-1	BARHL2	HGNC	HGNC:954	protein_coding	YES	CCDS730.1	ENSP00000359474	Q9NY43		UPI00001B50ED	NM_020063.1			1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24330:SF4,hmmpanther:PTHR24330																	LOW	1	SNV	1			1										PASS		rs932161610	.												A	2	1	10	90716827	90716827	C	A	1	0	0	0	0	0	0	0	1	1466	755	27	1		1	BARHL2	1	90716827	Silent	SNP	C	C3L-00095_TP	783158	90716827	158239595	44	3425											
DPYD	0	.	GRCh38	chr1	97679118	97679118	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccaatgaaagcagctttgTagcctttttctttcaaagtg	10	16	7	8	0	2	1	1	1	1	0	3	1	3	1	2	0	3	3	2	0	4	6	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.827A>T	p.Tyr276Phe	p.Y276F	ENST00000370192	8/23	262	244	18	163	163	0	strelka-varscan-mutect	DPYD,missense_variant,p.Tyr276Phe,ENST00000370192,NM_000110.3;	A	ENST00000370192	Transcript	missense_variant	928/4412	827/3078	276/1025	Y/F	tAc/tTc		1		-1	DPYD	HGNC	HGNC:3012	protein_coding	YES	CCDS30777.1	ENSP00000359211	Q12882		UPI00000727C7	NM_000110.3	tolerated(0.32)		8/23		hmmpanther:PTHR11938,hmmpanther:PTHR11938:SF5,Gene3D:3.50.50.60,Pfam_domain:PF07992,Superfamily_domains:SSF51971																	MODERATE	1	SNV	1			1										PASS		rs1313976976	.												A	3	1	10	97679118	97679118	T	A	1	0	0	0	0	1	0	0	0	4560	1638	57	4		4	DPYD	1	97679118	Missense_Mutation	SNP	T	C3L-00095_TP	6962291	97679118	151277304	45	3426											
PLPPR4	0	.	GRCh38	chr1	99305978	99305978	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaataccttgccgcgagcCaataccccatctgtagaaga	13	7	8	13	2	1	2	0	0	1	2	1	3	1	2	5	0	5	2	5	0	6	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1260C>T	p.=	p.A420A	ENST00000370185	7/7	184	168	16	203	203	0	strelka-varscan-mutect	PLPPR4,synonymous_variant,p.=,ENST00000370185,NM_014839.4;PLPPR4,synonymous_variant,p.=,ENST00000457765,NM_001166252.1;PLPPR4,synonymous_variant,p.=,ENST00000370184,;	T	ENST00000370185	Transcript	synonymous_variant	1757/5369	1260/2292	420/763	A	gcC/gcT		1		1	PLPPR4	HGNC	HGNC:23496	protein_coding	YES	CCDS757.1	ENSP00000359204	Q7Z2D5		UPI0000161229	NM_014839.4			7/7		hmmpanther:PTHR10165:SF13,hmmpanther:PTHR10165																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	99305978	99305978	C	T	1	0	0	0	0	0	0	0	1	12212	581	21	3		3	PLPPR4	1	99305978	Silent	SNP	C	C3L-00095_TP	1626860	99305978	149650444	46	3427											
COL11A1	0	.	GRCh38	chr1	102984176	102984176	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggatatcctggtaatcctgGaactccaagttttccctaca	10	13	7	11	0	0	0	0	0	0	0	4	2	4	2	4	3	2	2	4	3	5	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2518C>G	p.Pro840Ala	p.P840A	ENST00000370096	31/67	215	200	15	132	132	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Pro852Ala,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Pro840Ala,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Pro801Ala,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Pro724Ala,ENST00000512756,NM_080630.3;COL11A1,missense_variant,p.Pro613Ala,ENST00000635193,;	C	ENST00000370096	Transcript	missense_variant	2831/7286	2518/5421	840/1806	P/A	Cca/Gca		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0.02)		31/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	102984176	102984176	G	C	1	0	0	0	0	1	0	0	0	3455	1174	41	4		4	COL11A1	1	102984176	Missense_Mutation	SNP	G	C3L-00095_TP	3678198	102984176	145972246	47	3428											
COL11A1	0	.	GRCh38	chr1	103008506	103008506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacctttggccccagatgaaCcaggccccccctatagagaa	11	6	8	16	0	0	3	0	1	0	2	0	4	0	3	7	2	1	0	7	2	4	3			C3L-00095_TP	C3L-00095_NB	C	C																c.1640G>T	p.Gly547Val	p.G547V	ENST00000370096	15/67	281	243	38	321	320	1	strelka-varscan-mutect	COL11A1,missense_variant,p.Gly559Val,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Gly547Val,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Gly508Val,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Gly431Val,ENST00000512756,NM_080630.3;COL11A1,missense_variant,p.Gly559Val,ENST00000427239,;COL11A1,upstream_gene_variant,,ENST00000461720,;COL11A1,upstream_gene_variant,,ENST00000475980,;COL11A1,missense_variant,p.Gly320Val,ENST00000635193,;	A	ENST00000370096	Transcript	missense_variant	1953/7286	1640/5421	547/1806	G/V	gGt/gTt	COSM674588,COSM674589	1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0)		15/67		Pfam_domain:PF01391,Low_complexity_(Seg):seg											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	10	103008506	103008506	C	A	1	0	0	0	0	1	0	0	0	3455	507	18	2		2	COL11A1	1	103008506	Missense_Mutation	SNP	C	C3L-00095_TP	24330	103008506	145947916	48	3429											
NTNG1	0	.	GRCh38	chr1	107430772	107430772	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaatgcttcggccactcCaatcgatgcagttatatcga	10	12	9	10	3	0	1	0	1	0	0	4	3	1	1	2	1	2	3	2	1	4	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1110C>A	p.=	p.S370S	ENST00000370068	6/8	163	148	15	179	179	0	strelka-varscan-mutect	NTNG1,synonymous_variant,p.=,ENST00000370068,;NTNG1,synonymous_variant,p.=,ENST00000370073,NM_001113226.1;NTNG1,synonymous_variant,p.=,ENST00000370065,;NTNG1,intron_variant,,ENST00000370067,;NTNG1,intron_variant,,ENST00000370071,NM_001113228.1;NTNG1,intron_variant,,ENST00000370074,NM_014917.2;NTNG1,intron_variant,,ENST00000370066,;	A	ENST00000370068	Transcript	synonymous_variant	1956/4034	1110/1620	370/539	S	tcC/tcA		1		1	NTNG1	HGNC	HGNC:23319	protein_coding	YES	CCDS44180.1	ENSP00000359085	Q9Y2I2		UPI0000458A3E				6/8		PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF28,hmmpanther:PTHR10574,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196																	LOW	1	SNV	5			1										PASS		rs1319398180	.												A	2	1	10	107430772	107430772	C	A	1	0	0	0	0	0	0	0	1	10769	581	21	2		2	NTNG1	1	107430772	Silent	SNP	C	C3L-00095_TP	4422266	107430772	141525650	49	3430											
CHI3L2	0	.	GRCh38	chr1	111230908	111230908	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaaggacaagagtgaagtGatgctctaccagaccatcaa	16	7	9	9	0	3	4	2	2	1	2	3	5	3	5	2	1	2	1	2	1	5	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.237G>C	p.=	p.V79V	ENST00000445067	5/13	206	192	14	243	243	0	strelka-mutect	CHI3L2,synonymous_variant,p.=,ENST00000445067,;CHI3L2,synonymous_variant,p.=,ENST00000369744,NM_001025197.1;CHI3L2,synonymous_variant,p.=,ENST00000369748,NM_004000.2;CHI3L2,synonymous_variant,p.=,ENST00000528451,;CHI3L2,synonymous_variant,p.=,ENST00000486561,;CHI3L2,synonymous_variant,p.=,ENST00000474304,;CHI3L2,synonymous_variant,p.=,ENST00000533831,;CHI3L2,5_prime_UTR_variant,,ENST00000466741,NM_001025199.1;CHI3L2,5_prime_UTR_variant,,ENST00000524472,;CHI3L2,5_prime_UTR_variant,,ENST00000477185,;CHI3L2,5_prime_UTR_variant,,ENST00000467038,;CHI3L2,5_prime_UTR_variant,,ENST00000497587,;CHI3L2,upstream_gene_variant,,ENST00000497220,;CHI3L2,non_coding_transcript_exon_variant,,ENST00000526684,;CHI3L2,non_coding_transcript_exon_variant,,ENST00000530597,;	C	ENST00000445067	Transcript	synonymous_variant	1008/2169	237/1173	79/390	V	gtG/gtC		1		1	CHI3L2	HGNC	HGNC:1933	protein_coding	YES	CCDS30802.1	ENSP00000437082	Q15782		UPI0000126C1A				5/13		hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF82,Pfam_domain:PF00704,Gene3D:3.20.20.80,SMART_domains:SM00636,Superfamily_domains:SSF51445																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	10	111230908	111230908	G	C	1	0	0	0	0	0	0	0	1	3100	1277	45	4		4	CHI3L2	1	111230908	Silent	SNP	G	C3L-00095_TP	3800136	111230908	137725514	50	3431											
HMGCS2	0	.	GRCh38	chr1	119755583	119755583	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttggtgtaggtgtctTccagctttagccccctgtga	4	15	11	11	0	1	1	0	1	1	0	2	1	2	1	4	2	2	3	4	2	2	6	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.1031A>C	p.Glu344Ala	p.E344A	ENST00000369406	6/10	406	385	21	499	499	0	strelka-varscan-mutect	HMGCS2,missense_variant,p.Glu344Ala,ENST00000369406,NM_005518.3;HMGCS2,missense_variant,p.Glu302Ala,ENST00000544913,NM_001166107.1;HMGCS2,non_coding_transcript_exon_variant,,ENST00000476640,;HMGCS2,non_coding_transcript_exon_variant,,ENST00000472375,;	G	ENST00000369406	Transcript	missense_variant	1081/2428	1031/1527	344/508	E/A	gAa/gCa		1		-1	HMGCS2	HGNC	HGNC:5008	protein_coding	YES	CCDS905.1	ENSP00000358414	P54868	A0A140VJL2	UPI000000DA7A	NM_005518.3	tolerated(0.08)		6/10		hmmpanther:PTHR11877,hmmpanther:PTHR11877:SF16,Pfam_domain:PF08540,TIGRFAM_domain:TIGR01833																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	119755583	119755583	T	G	1	0	0	0	0	1	0	0	0	7125	1783	62	5		5	HMGCS2	1	119755583	Missense_Mutation	SNP	T	C3L-00095_TP	8524675	119755583	129200839	51	3432											
ACP6	0	.	GRCh38	chr1	147659527	147659527	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagcaaacatgcccccCtaaagtagggaagaaagaga	16	4	10	11	0	0	2	0	0	0	2	0	4	0	3	4	1	4	2	4	1	6	2			C3L-00095_TP	C3L-00095_NB	C	C																c.349-1G>A		p.X117_splice	ENST00000583509		188	176	12	172	172	0	strelka-mutect	ACP6,splice_acceptor_variant,,ENST00000583509,NM_016361.4;ACP6,splice_acceptor_variant,,ENST00000392988,;ACP6,splice_acceptor_variant,,ENST00000487562,;ACP6,splice_acceptor_variant,,ENST00000611629,;ACP6,splice_acceptor_variant,,ENST00000493129,;ACP6,upstream_gene_variant,,ENST00000609196,;ACP6,splice_acceptor_variant,,ENST00000613673,;ACP6,intron_variant,,ENST00000620634,;ACP6,upstream_gene_variant,,ENST00000614551,;	T	ENST00000583509	Transcript	splice_acceptor_variant	-/6923	349/1287	117/428			COSM4862336,COSM674759	1		-1	ACP6	HGNC	HGNC:29609	protein_coding	YES	CCDS928.1	ENSP00000463574		X5D289	UPI000003F07E	NM_016361.4				2/9												1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												T	5	4	10	147659527	147659527	C	T	1	0	0	0	0	0	0	1	0	207	695	24	3		3	ACP6	1	147659527	Splice_Site	SNP	C	C3L-00095_TP	27903944	147659527	101296895	52	3433											
OTUD7B	0	.	GRCh38	chr1	149944533	149944533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgatactggtgacggTgacccatcttcagggttcca	7	11	10	13	1	2	3	1	3	1	0	4	3	4	3	4	3	1	1	4	3	1	3	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.1856A>G	p.His619Arg	p.H619R	ENST00000581312	12/12	374	350	24	441	441	0	strelka-varscan-mutect	OTUD7B,missense_variant,p.His619Arg,ENST00000581312,NM_020205.3;OTUD7B,downstream_gene_variant,,ENST00000417191,;	C	ENST00000581312	Transcript	missense_variant	2151/8872	1856/2532	619/843	H/R	cAc/cGc		1		-1	OTUD7B	HGNC	HGNC:16683	protein_coding	YES	CCDS72903.1	ENSP00000462729	Q6GQQ9		UPI000020415D	NM_020205.3	tolerated(0.07)		12/12		hmmpanther:PTHR13367,hmmpanther:PTHR13367:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	149944533	149944533	T	C	1	0	0	0	0	1	0	0	0	11388	1696	59	5		5	OTUD7B	1	149944533	Missense_Mutation	SNP	T	C3L-00095_TP	2285006	149944533	99011889	53	3434											
FLG2	0	.	GRCh38	chr1	152351280	152351280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcttccagttgtcctggaaCctgtctgtgtggactgtcca	5	14	11	11	0	2	0	0	0	2	0	5	2	5	2	4	2	1	1	4	2	1	2	rs748312063		C3L-00095_TP	C3L-00095_NB	C	C																c.6506G>T	p.Gly2169Val	p.G2169V	ENST00000388718	3/3	378	348	30	404	403	1	strelka-varscan-mutect	FLG2,missense_variant,p.Gly2169Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,;	A	ENST00000388718	Transcript	missense_variant	6579/9124	6506/7176	2169/2391	G/V	gGt/gTt	rs748312063	1		-1	FLG2	HGNC	HGNC:33276	protein_coding	YES	CCDS30861.1	ENSP00000373370	Q5D862		UPI00004E1DE5	NM_001014342.2	deleterious(0.02)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571																	MODERATE		SNV	5			1										PASS		rs748312063	.												A	3	1	10	152351280	152351280	C	A	1	0	0	0	0	1	0	0	0	5785	507	18	2		2	FLG2	1	152351280	Missense_Mutation	SNP	C	C3L-00095_TP	2406747	152351280	96605142	54	3435											
FLG2	0	.	GRCh38	chr1	152353514	152353514	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcactgtcactggactcactAtggccagatccccttcttcc	7	12	6	16	0	4	1	3	0	1	1	6	2	6	2	4	2	0	0	4	2	1	3	rs140606934		C3L-00095_TP	C3L-00095_NB	A	A																c.4272T>C	p.=	p.H1424H	ENST00000388718	3/3	424	386	38	527	523	4	varscan-mutect	FLG2,synonymous_variant,p.=,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,;	G	ENST00000388718	Transcript	synonymous_variant	4345/9124	4272/7176	1424/2391	H	caT/caC	rs140606934,COSM5239781	1		-1	FLG2	HGNC	HGNC:33276	protein_coding	YES	CCDS30861.1	ENSP00000373370	Q5D862		UPI00004E1DE5	NM_001014342.2			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571											0,1						LOW		SNV	5		0,1	1										PASS		rs140606934	.												G	2	3	10	152353514	152353514	A	G	1	0	0	0	0	0	0	0	1	5785	446	16	5		5	FLG2	1	152353514	Silent	SNP	A	C3L-00095_TP	2234	152353514	96602908	55	3436											
DENND4B	0	.	GRCh38	chr1	153933606	153933606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgcgggaggcaggggagtgGcgggaaggagtgagcagctg	9	4	23	5	2	0	1	0	1	0	0	0	5	0	5	0	7	3	3	0	7	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.3207C>T	p.=	p.R1069R	ENST00000361217	20/28	51	45	6	81	81	0	strelka-mutect	DENND4B,synonymous_variant,p.=,ENST00000361217,NM_014856.2;DENND4B,synonymous_variant,p.=,ENST00000368646,;DENND4B,upstream_gene_variant,,ENST00000474386,;DENND4B,upstream_gene_variant,,ENST00000480340,;DENND4B,upstream_gene_variant,,ENST00000492898,;DENND4B,upstream_gene_variant,,ENST00000462423,;DENND4B,upstream_gene_variant,,ENST00000531748,;DENND4B,downstream_gene_variant,,ENST00000477746,;	A	ENST00000361217	Transcript	synonymous_variant	3626/5706	3207/4491	1069/1496	R	cgC/cgT		1		-1	DENND4B	HGNC	HGNC:29044	protein_coding	YES	CCDS44228.1	ENSP00000354597	O75064		UPI000047EA3E	NM_014856.2			20/28		hmmpanther:PTHR12296:SF18,hmmpanther:PTHR12296																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	153933606	153933606	G	A	1	0	0	0	0	0	0	0	1	4238	1190	42	3		3	DENND4B	1	153933606	Silent	SNP	G	C3L-00095_TP	1580092	153933606	95022816	56	3437											
ATP8B2	0	.	GRCh38	chr1	154331064	154331064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagttgatcccccagatctCttccctgtcctggttcacca	6	13	6	16	0	3	2	2	1	1	1	7	2	6	2	5	1	0	2	5	1	0	3			C3L-00095_TP	C3L-00095_NB	C	C																c.320C>A	p.Ser107Tyr	p.S107Y	ENST00000368489	5/28	230	213	17	244	243	1	strelka-mutect	ATP8B2,missense_variant,p.Ser107Tyr,ENST00000368489,NM_020452.3;ATP8B2,missense_variant,p.Ser74Tyr,ENST00000368487,NM_001005855.1;ATP8B2,non_coding_transcript_exon_variant,,ENST00000426445,;ATP8B2,downstream_gene_variant,,ENST00000368490,;ATP8B2,upstream_gene_variant,,ENST00000514107,;	A	ENST00000368489	Transcript	missense_variant	320/5861	320/3672	107/1223	S/Y	tCt/tAt	COSM253246	1		1	ATP8B2	HGNC	HGNC:13534	protein_coding	YES	CCDS1066.1	ENSP00000357475	P98198		UPI00001B92AB	NM_020452.3	deleterious(0)		5/28		Superfamily_domains:0049473,Gene3D:2.70.150.10,Pfam_domain:PF16209,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF46,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR01652,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	10	154331064	154331064	C	A	1	0	0	0	0	1	0	0	0	1348	913	32	2		2	ATP8B2	1	154331064	Missense_Mutation	SNP	C	C3L-00095_TP	397458	154331064	94625358	57	3438											
OR10T2	0	.	GRCh38	chr1	158399211	158399211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttggtgtctgagagcaGgtggaccagcagctgaggga	8	8	18	7	0	2	2	0	2	2	1	2	5	2	4	1	5	3	3	1	5	0	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.256C>A	p.Leu86Met	p.L86M	ENST00000334438	1/1	210	193	17	286	286	0	strelka-varscan-mutect	OR10T2,missense_variant,p.Leu86Met,ENST00000334438,NM_001004475.1;	T	ENST00000334438	Transcript	missense_variant	256/945	256/945	86/314	L/M	Ctg/Atg		1		-1	OR10T2	HGNC	HGNC:14816	protein_coding	YES	CCDS30895.1	ENSP00000334115	Q8NGX3	A0A126GV74	UPI000003F220	NM_001004475.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF98,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1319148747	.												T	3	4	10	158399211	158399211	G	T	1	0	0	0	0	1	0	0	0	10996	991	35	2		2	OR10T2	1	158399211	Missense_Mutation	SNP	G	C3L-00095_TP	4068147	158399211	90557211	58	3439											
OR6P1	0	.	GRCh38	chr1	158562819	158562819	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgaaggtgtacatggcccgGggccgtgcataggtgaagag	9	8	17	7	2	0	3	0	2	0	1	0	3	0	3	2	5	2	2	2	5	4	3	rs758406845		C3L-00095_TP	C3L-00095_NB	G	G																c.786C>A	p.=	p.P262P	ENST00000334632	1/1	444	415	29	564	564	0	strelka-varscan-mutect	OR6P1,synonymous_variant,p.=,ENST00000334632,NM_001160325.1;	T	ENST00000334632	Transcript	synonymous_variant	786/954	786/954	262/317	P	ccC/ccA	rs758406845	1		-1	OR6P1	HGNC	HGNC:15036	protein_coding	YES	CCDS53391.1	ENSP00000334721	Q8NGX9	A0A126GV72	UPI000004B1FF	NM_001160325.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs758406845	.												T	2	4	10	158562819	158562819	G	T	1	0	0	0	0	0	0	0	1	11277	1219	43	2		2	OR6P1	1	158562819	Silent	SNP	G	C3L-00095_TP	163608	158562819	90393603	59	3440											
SPTA1	0	.	GRCh38	chr1	158611328	158611328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagatggcttcgacccCgtgggtccatatattgctgc	8	10	12	11	2	0	2	0	0	0	2	2	4	1	2	3	2	2	2	3	2	2	4	rs745616202		C3L-00095_TP	C3L-00095_NB	C	C																c.7196G>T	p.Arg2399Leu	p.R2399L	ENST00000368147	52/52	297	282	15	357	357	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Arg2399Leu,ENST00000368147,NM_003126.2;OR10Z1,downstream_gene_variant,,ENST00000361284,NM_001004478.1;SPTA1,non_coding_transcript_exon_variant,,ENST00000485680,;SPTA1,downstream_gene_variant,,ENST00000492934,;SPTA1,downstream_gene_variant,,ENST00000481212,;SPTA1,downstream_gene_variant,,ENST00000498708,;	A	ENST00000368147	Transcript	missense_variant	7377/7999	7196/7260	2399/2419	R/L	cGg/cTg	rs745616202,COSM5251198,COSM5256445	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0.02)		52/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF08726,Gene3D:1.10.238.10,SMART_domains:SM01184,Superfamily_domains:SSF47473											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs745616202	.												A	3	1	10	158611328	158611328	C	A	1	0	0	0	0	1	0	0	0	15472	652	23	1		1	SPTA1	1	158611328	Missense_Mutation	SNP	C	C3L-00095_TP	48509	158611328	90345094	60	3441											
CADM3	0	.	GRCh38	chr1	159191998	159191999	+	Frame_Shift_Ins	INS	-	-	A																															caccgtggtgctcaagtgccINSaagtgaaagatcacgaggac																								novel		C3L-00095_TP	C3L-00095_NB	-	-																c.255dupA	p.Val86SerfsTer13	p.V86Sfs*13	ENST00000368124	3/10	339	307	32	343	343	0	sindel-varindel-pindel	CADM3,frameshift_variant,p.Val52SerfsTer13,ENST00000368125,NM_001127173.1;CADM3,frameshift_variant,p.Val86SerfsTer13,ENST00000368124,NM_021189.3;CADM3,frameshift_variant,p.Val52SerfsTer13,ENST00000416746,;CADM3-AS1,downstream_gene_variant,,ENST00000415675,;	A	ENST00000368124	Transcript	frameshift_variant	410-411/2546	253-254/1299	85/432	Q/QX	caa/cAaa		1		1	CADM3	HGNC	HGNC:17601	protein_coding	YES	CCDS1182.1	ENSP00000357106	Q8N126		UPI000006E8A2	NM_021189.3			3/10		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF57,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	insertion	1	2		1										PASS		.	.												A	7	5	10	159191998	159191998	-	A	1	0	1	1	0	0	0	0	0	2258	595	21	0		0	CADM3	1	159191998	Frame_Shift_Ins	INS	-	C3L-00095_TP	580670	159191998	89764424	61	3442											
FCER1A	0	.	GRCh38	chr1	159306038	159306038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatggagggccagcccCtcttcctcaggtgccatggt	5	10	14	12	0	2	1	1	1	1	0	3	2	3	2	5	5	2	0	5	5	0	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.382C>A	p.Leu128Ile	p.L128I	ENST00000368115	5/6	310	287	23	343	343	0	strelka-varscan-mutect	FCER1A,missense_variant,p.Leu128Ile,ENST00000368115,NM_002001.3;FCER1A,missense_variant,p.Leu95Ile,ENST00000368114,;	A	ENST00000368115	Transcript	missense_variant	481/1165	382/774	128/257	L/I	Ctc/Atc		1		1	FCER1A	HGNC	HGNC:3609	protein_coding	YES	CCDS1184.1	ENSP00000357097	P12319		UPI000002CFDB	NM_002001.3	tolerated(0.07)		5/6		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF12,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1387764560	.												A	3	1	10	159306038	159306038	C	A	1	0	0	0	0	1	0	0	0	5637	681	24	2		2	FCER1A	1	159306038	Missense_Mutation	SNP	C	C3L-00095_TP	114040	159306038	89650384	62	3443											
OR10J1	0	.	GRCh38	chr1	159440306	159440306	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttacccttctgtgctagaaAggtgccccacttcttctgtg	6	14	9	12	0	3	1	0	0	3	1	3	1	3	1	3	1	3	2	3	1	3	5	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.548A>T	p.Lys183Met	p.K183M	ENST00000423932	1/1	347	326	21	407	407	0	strelka-varscan-mutect	OR10J1,missense_variant,p.Lys183Met,ENST00000423932,NM_012351.2;RP11-550P17.5,intron_variant,,ENST00000431862,;	T	ENST00000423932	Transcript	missense_variant	585/1090	548/963	183/320	K/M	aAg/aTg		1		1	OR10J1	HGNC	HGNC:8175	protein_coding	YES	CCDS1185.1	ENSP00000399078	P30954		UPI000013E7DA	NM_012351.2	tolerated(0.1)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF417,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												T	3	4	10	159440306	159440306	A	T	1	0	0	0	0	1	0	0	0	10987	72	3	4		4	OR10J1	1	159440306	Missense_Mutation	SNP	A	C3L-00095_TP	134268	159440306	89516116	63	3444											
ATP1A2	0	.	GRCh38	chr1	160125179	160125179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagtcggagccccagacccGctcccccgagttcacccatg	8	5	10	18	3	1	2	1	0	0	2	3	4	2	3	6	1	1	2	6	1	0	1	rs778741638		C3L-00095_TP	C3L-00095_NB	G	G																c.674G>T	p.Arg225Leu	p.R225L	ENST00000361216	7/23	324	297	27	315	315	0	strelka-varscan-mutect	ATP1A2,missense_variant,p.Arg225Leu,ENST00000361216,NM_000702.3;ATP1A2,missense_variant,p.Arg225Leu,ENST00000392233,;ATP1A2,upstream_gene_variant,,ENST00000447527,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000468587,;ATP1A2,downstream_gene_variant,,ENST00000478587,;	T	ENST00000361216	Transcript	missense_variant	763/5421	674/3063	225/1020	R/L	cGc/cTc	rs778741638,COSM5462040	1		1	ATP1A2	HGNC	HGNC:800	protein_coding	YES	CCDS1196.1	ENSP00000354490	P50993	A0A0S2Z3W6	UPI0000124FC1	NM_000702.3	deleterious(0)		7/23		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF259,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01106,Gene3D:2.70.150.10,Pfam_domain:PF00122,Superfamily_domains:0049471,Prints_domain:PR00119											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs778741638	.												T	3	4	10	160125179	160125179	G	T	1	0	0	0	0	1	0	0	0	1281	1087	38	1		1	ATP1A2	1	160125179	Missense_Mutation	SNP	G	C3L-00095_TP	684873	160125179	88831243	64	3445											
CASQ1	0	.	GRCh38	chr1	160190880	160190880	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctggacttccctgagtaCgatggtgtggaccgtgtgat	6	11	16	8	2	0	2	0	2	0	0	1	5	1	4	2	4	1	2	2	4	1	2	rs543422219		C3L-00095_TP	C3L-00095_NB	C	C																c.129C>A	p.Tyr43Ter	p.Y43*	ENST00000368078	1/11	423	381	42	456	454	2	strelka-varscan-mutect	CASQ1,stop_gained,p.Tyr43Ter,ENST00000368078,NM_001231.4;ATP1A4,downstream_gene_variant,,ENST00000368081,NM_144699.3;ATP1A4,downstream_gene_variant,,ENST00000470705,NM_001001734.1;ATP1A4,downstream_gene_variant,,ENST00000469023,;ATP1A4,downstream_gene_variant,,ENST00000477338,;CASQ1,upstream_gene_variant,,ENST00000481081,;	A	ENST00000368078	Transcript	stop_gained	325/1897	129/1191	43/396	Y/*	taC/taA	rs543422219,COSM4669401	1		1	CASQ1	HGNC	HGNC:1512	protein_coding	YES	CCDS1198.2	ENSP00000357057	P31415		UPI0000204B81	NM_001231.4			1/11		Gene3D:3.40.30.10,Pfam_domain:PF01216,Prints_domain:PR00312,PROSITE_patterns:PS00863,hmmpanther:PTHR10033,hmmpanther:PTHR10033:SF14,Superfamily_domains:SSF52833											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs543422219	.												A	4	1	10	160190880	160190880	C	A	1	0	0	0	0	0	1	0	0	2379	547	19	1		1	CASQ1	1	160190880	Nonsense_Mutation	SNP	C	C3L-00095_TP	65701	160190880	88765542	65	3446											
SLAMF6	0	.	GRCh38	chr1	160496155	160496155	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttccatcttcaggttgctGagttgcagggagtaggactg	7	13	13	8	0	3	1	1	1	2	0	4	3	4	3	1	3	2	5	1	3	1	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.288C>G	p.=	p.L96L	ENST00000368057	2/8	336	317	19	418	418	0	strelka-varscan-mutect	SLAMF6,synonymous_variant,p.=,ENST00000368059,NM_052931.4,NM_001184715.1;SLAMF6,synonymous_variant,p.=,ENST00000368057,NM_001184714.1;SLAMF6,intron_variant,,ENST00000368055,NM_001184716.1;	C	ENST00000368057	Transcript	synonymous_variant	349/2712	288/999	96/332	L	ctC/ctG		1		-1	SLAMF6	HGNC	HGNC:21392	protein_coding	YES	CCDS53394.1	ENSP00000357036	Q96DU3		UPI0000051E34	NM_001184714.1			2/8		hmmpanther:PTHR12080:SF16,hmmpanther:PTHR12080,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	10	160496155	160496155	G	C	1	0	0	0	0	0	0	0	1	14633	1277	45	4		4	SLAMF6	1	160496155	Silent	SNP	G	C3L-00095_TP	305275	160496155	88460267	66	3447											
FCGR2B	0	.	GRCh38	chr1	161673219	161673219	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatccaagcctgtgaccatCactgtccaaggtatgcggag	10	9	10	12	1	2	1	2	1	0	0	4	2	4	2	4	2	2	1	4	2	3	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.636C>G	p.Ile212Met	p.I212M	ENST00000358671	4/8	142	134	8	158	158	0	varscan-mutect	FCGR2B,missense_variant,p.Ile212Met,ENST00000358671,NM_004001.4,NM_001002275.2;FCGR2B,missense_variant,p.Ile205Met,ENST00000367961,NM_001190828.1;FCGR2B,missense_variant,p.Ile212Met,ENST00000236937,NM_001002274.2,NM_001002273.2;RP11-25K21.1,intron_variant,,ENST00000453111,;RP11-25K21.1,downstream_gene_variant,,ENST00000626340,;FCGR2B,non_coding_transcript_exon_variant,,ENST00000480308,;FCGR2B,non_coding_transcript_exon_variant,,ENST00000485778,;	G	ENST00000358671	Transcript	missense_variant	717/2115	636/933	212/310	I/M	atC/atG		1		1	FCGR2B	HGNC	HGNC:3618	protein_coding	YES	CCDS30924.1	ENSP00000351497	P31994		UPI0000001600	NM_004001.4,NM_001002275.2	deleterious(0)		4/8		PROSITE_profiles:PS50835,hmmpanther:PTHR11481:SF51,hmmpanther:PTHR11481,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	161673219	161673219	C	G	1	0	0	0	0	1	0	0	0	5645	816	29	4		4	FCGR2B	1	161673219	Missense_Mutation	SNP	C	C3L-00095_TP	1177064	161673219	87283203	67	3448											
METTL11B	0	.	GRCh38	chr1	170166595	170166595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgcctgttttcaacagtGtggagctggtggatatgatg	8	15	13	5	0	1	1	1	1	0	0	1	3	1	3	1	3	3	2	1	3	3	5	rs749589550		C3L-00095_TP	C3L-00095_NB	G	G																c.424G>T	p.Val142Leu	p.V142L	ENST00000439373	3/4	458	382	76	575	575	0	strelka-varscan-mutect	METTL11B,missense_variant,p.Val142Leu,ENST00000439373,NM_001136107.1;METTL11B,non_coding_transcript_exon_variant,,ENST00000367764,;	T	ENST00000439373	Transcript	missense_variant	531/992	424/852	142/283	V/L	Gtg/Ttg	rs749589550	1		1	METTL11B	HGNC	HGNC:31932	protein_coding	YES	CCDS44275.1	ENSP00000408058	Q5VVY1		UPI0000418EF1	NM_001136107.1	deleterious(0.03)		3/4		hmmpanther:PTHR12753:SF2,hmmpanther:PTHR12753,Pfam_domain:PF05891,Gene3D:3.40.50.150,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		rs749589550	.												T	3	4	10	170166595	170166595	G	T	1	0	0	0	0	1	0	0	0	9437	1377	48	2		2	METTL11B	1	170166595	Missense_Mutation	SNP	G	C3L-00095_TP	8493376	170166595	78789827	68	3449											
TNR	0	.	GRCh38	chr1	175379618	175379618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacctcatgatattgctcacCcgccagggtgctgtacacaa	10	10	8	13	1	2	1	2	1	0	0	2	1	2	1	3	1	4	3	3	1	4	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1897G>T	p.Gly633Cys	p.G633C	ENST00000367674	9/23	171	152	19	229	228	1	strelka-varscan-mutect	TNR,missense_variant,p.Gly633Cys,ENST00000367674,;TNR,missense_variant,p.Gly633Cys,ENST00000263525,NM_003285.2;	A	ENST00000367674	Transcript	missense_variant	2606/12949	1897/4077	633/1358	G/C	Ggt/Tgt		1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C		deleterious(0)		9/23		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	175379618	175379618	C	A	1	0	0	0	0	1	0	0	0	16811	623	22	2		2	TNR	1	175379618	Missense_Mutation	SNP	C	C3L-00095_TP	5213023	175379618	73576804	69	3450											
TNR	0	.	GRCh38	chr1	175391342	175391342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctgttctttcagagccaCcacattgacaatgtattcct	9	13	7	12	0	2	2	1	1	1	1	3	2	3	2	4	1	1	2	4	1	2	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1453G>T	p.Val485Leu	p.V485L	ENST00000367674	7/23	286	269	17	317	317	0	strelka-varscan-mutect	TNR,missense_variant,p.Val485Leu,ENST00000367674,;TNR,missense_variant,p.Val485Leu,ENST00000263525,NM_003285.2;TNR,downstream_gene_variant,,ENST00000422274,;	A	ENST00000367674	Transcript	missense_variant	2162/12949	1453/4077	485/1358	V/L	Gtg/Ttg		1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C		tolerated(0.63)		7/23		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF254,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	175391342	175391342	C	A	1	0	0	0	0	1	0	0	0	16811	507	18	2		2	TNR	1	175391342	Missense_Mutation	SNP	C	C3L-00095_TP	11724	175391342	73565080	70	3451											
PAPPA2	0	.	GRCh38	chr1	176556935	176556935	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgccaagtgtggaagaggCgggcggaagatgggcaggga	10	4	21	6	3	0	2	0	0	0	2	1	5	0	5	1	6	0	1	1	6	3	0			C3L-00095_TP	C3L-00095_NB	C	C																c.613C>A	p.=	p.R205R	ENST00000367662	2/23	166	151	15	218	217	1	strelka-varscan-mutect	PAPPA2,synonymous_variant,p.=,ENST00000367662,NM_020318.2;PAPPA2,synonymous_variant,p.=,ENST00000367661,NM_021936.2;PAPPA2,downstream_gene_variant,,ENST00000486075,;PAPPA2,downstream_gene_variant,,ENST00000493665,;	A	ENST00000367662	Transcript	synonymous_variant	1777/9691	613/5376	205/1791	R	Cgg/Agg	COSM1158421,COSM216893	1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2			2/23													1,1						LOW	1	SNV	1		1,1	1										PASS		rs1467869802	.												A	2	1	10	176556935	176556935	C	A	1	0	0	0	0	0	0	0	1	11513	759	27	1		1	PAPPA2	1	176556935	Silent	SNP	C	C3L-00095_TP	1165593	176556935	72399487	71	3452											
ASTN1	0	.	GRCh38	chr1	176934218	176934218	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtttgggtaccagatagAacaggactcctcaaagccgt	11	10	10	10	1	1	2	1	0	0	2	2	3	2	3	3	2	3	2	3	2	4	4			C3L-00095_TP	C3L-00095_NB	A	A																c.2605T>C	p.Ser869Pro	p.S869P	ENST00000361833	16/23	237	220	17	238	238	0	strelka-varscan-mutect	ASTN1,missense_variant,p.Ser869Pro,ENST00000361833,NM_004319.2;ASTN1,missense_variant,p.Ser869Pro,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Ser869Pro,ENST00000424564,NM_207108.2;ASTN1,downstream_gene_variant,,ENST00000281881,;	G	ENST00000361833	Transcript	missense_variant	2619/7116	2605/3885	869/1294	S/P	Tct/Cct	COSM4875456,COSM900048	1		-1	ASTN1	HGNC	HGNC:773	protein_coding	YES	CCDS1319.1	ENSP00000354536	O14525		UPI0000160388	NM_004319.2	deleterious(0.01)		16/23		hmmpanther:PTHR16592:SF8,hmmpanther:PTHR16592,SMART_domains:SM00457											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	10	176934218	176934218	A	G	1	0	0	0	0	1	0	0	0	1211	246	9	5		5	ASTN1	1	176934218	Missense_Mutation	SNP	A	C3L-00095_TP	377283	176934218	72022204	72	3453											
TDRD5	0	.	GRCh38	chr1	179650912	179650912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttccagaagttgtgcGgtttgaagccattagtgggg	8	12	15	6	1	0	2	0	1	0	1	1	2	1	2	2	3	3	4	2	3	3	4	rs199784694		C3L-00095_TP	C3L-00095_NB	G	G																c.1846G>A	p.Gly616Ser	p.G616S	ENST00000444136	12/18	335	289	46	397	397	0	strelka-varscan-mutect	TDRD5,missense_variant,p.Gly616Ser,ENST00000444136,NM_001199085.1,NM_001199089.1;TDRD5,missense_variant,p.Gly616Ser,ENST00000367614,NM_001199091.1;TDRD5,missense_variant,p.Gly616Ser,ENST00000294848,NM_173533.3;TDRD5,missense_variant,p.Gly72Ser,ENST00000417329,;	A	ENST00000444136	Transcript	missense_variant	2364/3946	1846/3108	616/1035	G/S	Ggt/Agt	rs199784694,COSM4025615,COSM4025616	1		1	TDRD5	HGNC	HGNC:20614	protein_coding	YES	CCDS55663.1	ENSP00000406052	Q8NAT2		UPI000022AC96	NM_001199085.1,NM_001199089.1	tolerated(0.28)		12/18		hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF19											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs199784694	.												A	3	1	10	179650912	179650912	G	A	1	0	0	0	0	1	0	0	0	16143	1116	39	1		1	TDRD5	1	179650912	Missense_Mutation	SNP	G	C3L-00095_TP	2716694	179650912	69305510	73	3454											
RGS16	0	.	GRCh38	chr1	182603277	182603277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaacttgccagtactcccaGtatcgcagcccagctctgat	9	9	8	15	2	1	1	0	1	1	0	3	2	2	1	3	0	5	4	3	0	3	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.107C>T	p.Thr36Ile	p.T36I	ENST00000367558	2/5	315	292	23	372	372	0	strelka-varscan-mutect	RGS16,missense_variant,p.Thr36Ile,ENST00000367558,NM_002928.3;	A	ENST00000367558	Transcript	missense_variant	256/2427	107/609	36/202	T/I	aCt/aTt		1		-1	RGS16	HGNC	HGNC:9997	protein_coding	YES	CCDS1348.1	ENSP00000356529	O15492		UPI000013D8E9	NM_002928.3	tolerated(0.45)		2/5		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF187																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	182603277	182603277	G	A	1	0	0	0	0	1	0	0	0	13469	1029	36	3		3	RGS16	1	182603277	Missense_Mutation	SNP	G	C3L-00095_TP	2952365	182603277	66353145	74	3455											
RNF2	0	.	GRCh38	chr1	185087560	185087560	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttatttccagcaatgtctCaggctgtgcagacaaacgga	11	11	9	10	1	1	1	1	0	1	1	3	2	2	2	1	2	3	3	1	2	3	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.7C>T	p.Gln3Ter	p.Q3*	ENST00000367510	2/7	235	214	21	201	201	0	strelka-varscan-mutect	RNF2,stop_gained,p.Gln3Ter,ENST00000367510,NM_007212.3;RNF2,stop_gained,p.Gln3Ter,ENST00000367509,;RNF2,stop_gained,p.Gln3Ter,ENST00000453650,;RNF2,non_coding_transcript_exon_variant,,ENST00000498201,;	T	ENST00000367510	Transcript	stop_gained	295/3606	7/1011	3/336	Q/*	Cag/Tag		1		1	RNF2	HGNC	HGNC:10061	protein_coding	YES	CCDS1365.1	ENSP00000356480	Q99496		UPI000007131D	NM_007212.3			2/7		hmmpanther:PTHR10825,hmmpanther:PTHR10825:SF41																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	10	185087560	185087560	C	T	1	0	0	0	0	0	1	0	0	13650	827	29	3		3	RNF2	1	185087560	Nonsense_Mutation	SNP	C	C3L-00095_TP	2484283	185087560	63868862	75	3456											
PRG4	0	.	GRCh38	chr1	186307063	186307063	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctgccccaactaccccCaaggagcctgcacccaccac	11	3	6	21	0	0	0	0	0	0	0	0	1	0	1	8	1	6	1	8	1	4	1	rs767246572		C3L-00095_TP	C3L-00095_NB	C	C																c.1344C>A	p.=	p.P448P	ENST00000445192	7/13	518	485	33	720	720	0	varscan-mutect	PRG4,synonymous_variant,p.=,ENST00000445192,NM_005807.4;PRG4,synonymous_variant,p.=,ENST00000367483,NM_001127708.2;PRG4,synonymous_variant,p.=,ENST00000635041,NM_001303232.1;PRG4,synonymous_variant,p.=,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,synonymous_variant,p.=,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	A	ENST00000445192	Transcript	synonymous_variant	1389/5044	1344/4215	448/1404	P	ccC/ccA	rs767246572	1		1	PRG4	HGNC	HGNC:9364	protein_coding	YES	CCDS1369.1	ENSP00000399679	Q92954		UPI0004620CBB	NM_005807.4			7/13		Low_complexity_(Seg):seg,hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1																	LOW		SNV	5			1										PASS		rs767246572	.												A	2	1	10	186307063	186307063	C	A	1	0	0	0	0	0	0	0	1	12615	581	21	2		2	PRG4	1	186307063	Silent	SNP	C	C3L-00095_TP	1219503	186307063	62649359	76	3457											
BRINP3	0	.	GRCh38	chr1	190226191	190226191	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttgcattctggaaatttGggaccacagtgacaccagca	12	9	10	10	0	1	1	0	1	1	0	1	3	1	3	2	2	2	3	2	2	1	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.852C>G	p.=	p.P284P	ENST00000367462	6/8	148	138	10	160	160	0	strelka-varscan-mutect	BRINP3,synonymous_variant,p.=,ENST00000367462,NM_199051.1;BRINP3,non_coding_transcript_exon_variant,,ENST00000463404,;	C	ENST00000367462	Transcript	synonymous_variant	1337/3142	852/2301	284/766	P	ccC/ccG		1		-1	BRINP3	HGNC	HGNC:22393	protein_coding	YES	CCDS1373.1	ENSP00000356432	Q76B58		UPI00001C1D9A	NM_199051.1			6/8		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	10	190226191	190226191	G	C	1	0	0	0	0	0	0	0	1	1687	1335	47	4		4	BRINP3	1	190226191	Silent	SNP	G	C3L-00095_TP	3919128	190226191	58730231	77	3458											
LHX9	0	.	GRCh38	chr1	197918325	197918325	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccggggcaggcgtctcccCggcgaggatccgcagctccg	4	6	15	16	6	1	0	0	0	1	0	5	2	4	1	5	5	1	3	5	5	0	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.127C>A	p.=	p.R43R	ENST00000367388	3/3	264	236	28	279	279	0	strelka-varscan	LHX9,synonymous_variant,p.=,ENST00000367388,;LHX9,intron_variant,,ENST00000367387,NM_020204.2;LHX9,intron_variant,,ENST00000367390,NM_001014434.1;LHX9,intron_variant,,ENST00000561173,;LHX9,intron_variant,,ENST00000367391,;LHX9,downstream_gene_variant,,ENST00000606127,;LHX9,downstream_gene_variant,,ENST00000475727,;	A	ENST00000367388	Transcript	synonymous_variant	317/758	127/165	43/54	R	Cgg/Agg		1		1	LHX9	HGNC	HGNC:14222	protein_coding			ENSP00000356358		H0Y330	UPI0000EE3EC7				3/3		Low_complexity_(Seg):seg																	LOW		SNV	2			1										PASS		.	.												A	2	1	10	197918325	197918325	C	A	1	0	0	0	0	0	0	0	1	8686	643	23	1		1	LHX9	1	197918325	Silent	SNP	C	C3L-00095_TP	7692134	197918325	51038097	78	3459											
GPR25	0	.	GRCh38	chr1	200873154	200873154	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggacctgccctacggctaCgtctacatccccgcgctcta	6	8	10	17	4	2	0	0	0	2	0	3	1	3	1	4	3	4	2	4	3	4	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.117C>A	p.Tyr39Ter	p.Y39*	ENST00000304244	1/1	237	216	21	281	280	1	strelka-varscan	GPR25,stop_gained,p.Tyr39Ter,ENST00000304244,NM_005298.3;	A	ENST00000304244	Transcript	stop_gained	200/1224	117/1086	39/361	Y/*	taC/taA		1		1	GPR25	HGNC	HGNC:4480	protein_coding	YES	CCDS1405.1	ENSP00000301917	O00155		UPI000013E957	NM_005298.3			1/1		hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF9,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	HIGH	1	SNV				1										PASS		.	.												A	4	1	10	200873154	200873154	C	A	1	0	0	0	0	0	1	0	0	6567	547	19	1		1	GPR25	1	200873154	Nonsense_Mutation	SNP	C	C3L-00095_TP	2954829	200873154	48083268	79	3460											
KIF21B	0	.	GRCh38	chr1	200974812	200974812	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgtgaagttgtccacgttCcagaccttgatgacacccgc	8	10	11	12	2	0	4	0	3	0	1	2	4	2	4	4	1	0	2	4	1	1	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.4716G>T	p.Trp1572Cys	p.W1572C	ENST00000422435	34/35	562	480	82	608	607	1	strelka-varscan	KIF21B,missense_variant,p.Trp1559Cys,ENST00000332129,NM_017596.3;KIF21B,missense_variant,p.Trp1572Cys,ENST00000422435,NM_001252100.1;KIF21B,missense_variant,p.Trp1572Cys,ENST00000461742,NM_001252102.1;KIF21B,missense_variant,p.Trp1559Cys,ENST00000360529,NM_001252103.1;	A	ENST00000422435	Transcript	missense_variant	5033/5519	4716/4914	1572/1637	W/C	tgG/tgT		1		-1	KIF21B	HGNC	HGNC:29442	protein_coding	YES	CCDS58056.1	ENSP00000411831	O75037		UPI0000153E7C	NM_001252100.1	deleterious(0)		34/35		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	200974812	200974812	C	A	1	0	0	0	0	1	0	0	0	8154	856	30	2		2	KIF21B	1	200974812	Missense_Mutation	SNP	C	C3L-00095_TP	101658	200974812	47981610	80	3461											
IGFN1	0	.	GRCh38	chr1	201206993	201206993	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctggggttctcagggaggTagagatgctgactatgggga	8	10	17	6	0	1	2	1	1	1	1	3	5	2	4	1	6	1	3	1	6	2	3	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.2100T>C	p.=	p.G700G	ENST00000335211	12/24	112	104	8	123	123	0	strelka-varscan	IGFN1,synonymous_variant,p.=,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;	C	ENST00000335211	Transcript	synonymous_variant	2230/11810	2100/11127	700/3708	G	ggT/ggC		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1			12/24																			LOW	1	SNV	5			1										PASS		.	.												C	2	2	10	201206993	201206993	T	C	1	0	0	0	0	0	0	0	1	7497	1625	57	5		5	IGFN1	1	201206993	Silent	SNP	T	C3L-00095_TP	232181	201206993	47749429	81	3462											
IGFN1	0	.	GRCh38	chr1	201224821	201224821	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctctacactgtggtgcTgaggaccctgcaggggaagg	7	9	16	9	0	1	1	0	1	1	0	2	3	1	3	1	6	3	2	1	6	2	1	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.10433T>A	p.Leu3478Gln	p.L3478Q	ENST00000335211	21/24	148	125	23	181	181	0	strelka-varscan	IGFN1,missense_variant,p.Leu3478Gln,ENST00000335211,NM_001164586.1;IGFN1,missense_variant,p.Leu1021Gln,ENST00000295591,;IGFN1,missense_variant,p.Leu896Gln,ENST00000412892,;RP11-567E21.3,upstream_gene_variant,,ENST00000453155,;IGFN1,3_prime_UTR_variant,,ENST00000437879,;IGFN1,intron_variant,,ENST00000473483,;	A	ENST00000335211	Transcript	missense_variant	10563/11810	10433/11127	3478/3708	L/Q	cTg/cAg		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1	deleterious(0)		21/24		PROSITE_profiles:PS50835,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	10	201224821	201224821	T	A	1	0	0	0	0	1	0	0	0	7497	1580	55	4		4	IGFN1	1	201224821	Missense_Mutation	SNP	T	C3L-00095_TP	17828	201224821	47731601	82	3463											
IPO9	0	.	GRCh38	chr1	201872944	201872944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgagggcatccgcacccGctctaagtcagccaaaagtg	11	6	12	12	2	2	1	1	1	1	0	3	2	3	2	3	2	1	3	3	2	3	1	rs778640930		C3L-00095_TP	C3L-00095_NB	G	G																c.2693G>T	p.Arg898Leu	p.R898L	ENST00000361565	20/24	67	61	6	74	74	0	strelka-varscan	IPO9,missense_variant,p.Arg898Leu,ENST00000361565,NM_018085.4;IPO9,upstream_gene_variant,,ENST00000456707,;	T	ENST00000361565	Transcript	missense_variant	2762/11435	2693/3126	898/1041	R/L	cGc/cTc	rs778640930,COSM2212620	1		1	IPO9	HGNC	HGNC:19425	protein_coding	YES	CCDS1415.1	ENSP00000354742	Q96P70		UPI000007304B	NM_018085.4	deleterious(0.02)		20/24		hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF9											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	10	201872944	201872944	G	T	1	0	0	0	0	1	0	0	0	7702	1087	38	1		1	IPO9	1	201872944	Missense_Mutation	SNP	G	C3L-00095_TP	648123	201872944	47083478	83	3464											
BTG2	0	.	GRCh38	chr1	203305700	203305700	+	Missense_Mutation	SNP	G	G	A																															ggacccggggctgcgtgagcGagcagaggcttaaggtcttc																								rs772251147		C3L-00095_TP	C3L-00095_NB	G	G																c.94G>A	p.Glu32Lys	p.E32K	ENST00000290551	1/2	300	284	16	317	316	1	strelka-varscan	BTG2,missense_variant,p.Glu32Lys,ENST00000290551,NM_006763.2;LINC01136,upstream_gene_variant,,ENST00000457348,;LINC01136,upstream_gene_variant,,ENST00000432511,;LINC01136,upstream_gene_variant,,ENST00000425698,;BTG2,missense_variant,p.Glu32Lys,ENST00000475157,;	A	ENST00000290551	Transcript	missense_variant	165/2712	94/477	32/158	E/K	Gag/Aag	rs772251147	1		1	BTG2	HGNC	HGNC:1131	protein_coding	YES	CCDS1437.1	ENSP00000290551	P78543		UPI000011DD3B	NM_006763.2	tolerated(0.09)		1/2		hmmpanther:PTHR22978,hmmpanther:PTHR22978:SF29,Pfam_domain:PF07742,SMART_domains:SM00099,Superfamily_domains:SSF160696,Prints_domain:PR00310																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	203305700	203305700	G	A	1	0	0	0	0	1	0	0	0	1730	1059	37	1		1	BTG2	1	203305700	Missense_Mutation	SNP	G	C3L-00095_TP	1432756	203305700	45650722	84	3465	76	2									
BTG2	0	.	GRCh38	chr1	203305705	203305705	+	Silent	SNP	G	G	A																															cggggctgcgtgagcgagcaGaggcttaaggtcttcagcgg																										C3L-00095_TP	C3L-00095_NB	G	G																c.99G>A	p.=	p.Q33Q	ENST00000290551	1/2	293	278	15	315	315	0	strelka-varscan	BTG2,synonymous_variant,p.=,ENST00000290551,NM_006763.2;LINC01136,upstream_gene_variant,,ENST00000457348,;LINC01136,upstream_gene_variant,,ENST00000432511,;LINC01136,upstream_gene_variant,,ENST00000425698,;BTG2,synonymous_variant,p.=,ENST00000475157,;	A	ENST00000290551	Transcript	synonymous_variant	170/2712	99/477	33/158	Q	caG/caA	COSM5649087	1		1	BTG2	HGNC	HGNC:1131	protein_coding	YES	CCDS1437.1	ENSP00000290551	P78543		UPI000011DD3B	NM_006763.2			1/2		hmmpanther:PTHR22978,hmmpanther:PTHR22978:SF29,Pfam_domain:PF07742,SMART_domains:SM00099,Superfamily_domains:SSF160696,Prints_domain:PR00310											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	10	203305705	203305705	G	A	1	0	0	0	0	0	0	0	1	1730	933	33	3		3	BTG2	1	203305705	Silent	SNP	G	C3L-00095_TP	5	203305705	45650717	85	3466	76	2									
CNTN2	0	.	GRCh38	chr1	205059602	205059602	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacccggctctttgcaccCagcatcaaggcccggttccc	7	8	9	17	2	2	0	1	0	1	0	3	1	3	0	4	3	3	4	4	3	2	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.717C>A	p.=	p.P239P	ENST00000331830	7/23	349	314	35	344	343	1	strelka-varscan	CNTN2,synonymous_variant,p.=,ENST00000331830,NM_005076.3;CNTN2,non_coding_transcript_exon_variant,,ENST00000481872,;CNTN2,non_coding_transcript_exon_variant,,ENST00000636809,;CNTN2,non_coding_transcript_exon_variant,,ENST00000530117,;CNTN2,downstream_gene_variant,,ENST00000532366,;CNTN2,upstream_gene_variant,,ENST00000527340,;	A	ENST00000331830	Transcript	synonymous_variant	1074/8214	717/3123	239/1040	P	ccC/ccA		1		1	CNTN2	HGNC	HGNC:2172	protein_coding	YES	CCDS1449.1	ENSP00000330633	Q02246	A0A024R9B4	UPI00001266A5	NM_005076.3			7/23		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,Pfam_domain:PF13927,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	205059602	205059602	C	A	1	0	0	0	0	0	0	0	1	3422	581	21	2		2	CNTN2	1	205059602	Silent	SNP	C	C3L-00095_TP	1753897	205059602	43896820	86	3467											
TMEM81	0	.	GRCh38	chr1	205084161	205084161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccttatagccaaggcCacaggtgacagtacaggttg	10	9	10	12	0	0	1	0	1	0	0	2	1	2	1	4	3	2	2	4	3	4	4	rs748791365		C3L-00095_TP	C3L-00095_NB	C	C																c.160G>T	p.Gly54Cys	p.G54C	ENST00000367167	1/1	269	231	38	297	297	0	strelka-varscan	TMEM81,missense_variant,p.Gly54Cys,ENST00000367167,NM_203376.1;RBBP5,downstream_gene_variant,,ENST00000264515,NM_001193273.1,NM_005057.3;RBBP5,downstream_gene_variant,,ENST00000367164,NM_001193272.1;	A	ENST00000367167	Transcript	missense_variant	300/1332	160/768	54/255	G/C	Ggc/Tgc	rs748791365	1		-1	TMEM81	HGNC	HGNC:32349	protein_coding	YES	CCDS1450.1	ENSP00000356135	Q6P7N7		UPI0000199A1E	NM_203376.1	deleterious(0)		1/1		hmmpanther:PTHR35670,hmmpanther:PTHR35670:SF1																	MODERATE		SNV				1										PASS		.	.												A	3	1	10	205084161	205084161	C	A	1	0	0	0	0	1	0	0	0	16682	594	21	2		2	TMEM81	1	205084161	Missense_Mutation	SNP	C	C3L-00095_TP	24559	205084161	43872261	87	3468											
PTPN14	0	.	GRCh38	chr1	214394939	214394939	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctttgttgatgagctccActagaatggtcgacttgtta	8	16	9	8	1	1	3	0	2	1	1	3	4	2	3	1	1	1	3	1	1	3	6	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.806T>C	p.Val269Ala	p.V269A	ENST00000366956	9/19	354	333	21	301	301	0	strelka-varscan-mutect	PTPN14,missense_variant,p.Val269Ala,ENST00000366956,NM_005401.4;PTPN14,3_prime_UTR_variant,,ENST00000543945,;	G	ENST00000366956	Transcript	missense_variant	1001/12985	806/3564	269/1187	V/A	gTg/gCg		1		-1	PTPN14	HGNC	HGNC:9647	protein_coding	YES	CCDS1514.1	ENSP00000355923	Q15678		UPI000013DCA6	NM_005401.4	tolerated(0.08)		9/19		PROSITE_profiles:PS50057,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77,Pfam_domain:PF09380,PIRSF_domain:PIRSF000934,Gene3D:2.30.29.30,SMART_domains:SM01196,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	214394939	214394939	A	G	1	0	0	0	0	1	0	0	0	12936	159	6	5		5	PTPN14	1	214394939	Missense_Mutation	SNP	A	C3L-00095_TP	9310778	214394939	34561483	88	3469											
USH2A	0	.	GRCh38	chr1	215970777	215970777	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccataactcgtgataacacCtgggaagataataattgcct	14	11	7	9	1	0	2	0	1	0	1	2	3	1	3	3	1	3	0	3	1	5	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.6806-1G>T		p.X2269_splice	ENST00000307340		347	326	21	292	292	0	strelka-varscan-mutect	USH2A,splice_acceptor_variant,,ENST00000307340,NM_206933.2;	A	ENST00000307340	Transcript	splice_acceptor_variant	-/18883	6806/15609	2269/5202				1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2				35/71																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	10	215970777	215970777	C	A	1	0	0	0	0	0	0	1	0	17570	695	24	2		2	USH2A	1	215970777	Splice_Site	SNP	C	C3L-00095_TP	1575838	215970777	32985645	89	3470											
USH2A	0	.	GRCh38	chr1	216199934	216199934	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatttgagagtgttgtccaGgtaagtgtcacagagtctga	10	13	13	5	0	2	4	1	3	1	2	3	5	3	4	1	1	0	2	1	1	1	3			C3L-00095_TP	C3L-00095_NB	G	G																c.3504C>G	p.=	p.T1168T	ENST00000307340	17/72	577	513	64	550	550	0	strelka-varscan-mutect	USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;USH2A,synonymous_variant,p.=,ENST00000366942,NM_007123.5;RP5-1099E6.3,intron_variant,,ENST00000420867,;MRPS18BP1,downstream_gene_variant,,ENST00000414228,;	C	ENST00000307340	Transcript	synonymous_variant	3891/18883	3504/15609	1168/5202	T	acC/acG	COSM4983542,COSM4983543,COSM4983544	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			17/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												C	2	2	10	216199934	216199934	G	C	1	0	0	0	0	0	0	0	1	17570	987	35	4		4	USH2A	1	216199934	Silent	SNP	G	C3L-00095_TP	229157	216199934	32756488	90	3471											
LYPLAL1	0	.	GRCh38	chr1	219211490	219211490	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctttgtatcttcttctctAggctcttcagaagagtaatg	8	17	8	8	0	6	2	1	0	5	2	7	2	6	2	0	1	0	3	0	1	4	7	rs200260515		C3L-00095_TP	C3L-00095_NB	A	A																c.478-2A>T		p.X160_splice	ENST00000366928		104	86	18	99	99	0	strelka-varscan-mutect	LYPLAL1,splice_acceptor_variant,,ENST00000366928,NM_001300772.1,NM_001300771.1,NM_138794.4;LYPLAL1,splice_acceptor_variant,,ENST00000366927,NM_001300770.1;LYPLAL1,splice_acceptor_variant,,ENST00000483635,;LYPLAL1,splice_acceptor_variant,,ENST00000463964,;LYPLAL1,splice_acceptor_variant,,ENST00000475724,;LYPLAL1,splice_acceptor_variant,,ENST00000477938,;LYPLAL1,splice_acceptor_variant,,ENST00000460522,;LYPLAL1,splice_acceptor_variant,,ENST00000469590,;LYPLAL1,splice_acceptor_variant,,ENST00000474379,;LYPLAL1,splice_acceptor_variant,,ENST00000481007,;LYPLAL1,splice_acceptor_variant,,ENST00000478794,;	T	ENST00000366928	Transcript	splice_acceptor_variant	-/1898	478/714	160/237			rs200260515	1		1	LYPLAL1	HGNC	HGNC:20440	protein_coding	YES	CCDS1522.1	ENSP00000355895	Q5VWZ2		UPI000013D8ED	NM_001300772.1,NM_001300771.1,NM_138794.4				4/4																		HIGH	1	SNV	1			1										PASS		rs200260515	.												T	5	4	10	219211490	219211490	A	T	1	0	0	0	0	0	0	1	0	9030	434	15	4		4	LYPLAL1	1	219211490	Splice_Site	SNP	A	C3L-00095_TP	3011556	219211490	29744932	91	3472											
MAP10	0	.	GRCh38	chr1	232805336	232805336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccgctggagcgcttccgCaaatctcgcgagatagcagg	9	6	13	13	5	1	1	0	0	1	1	3	4	2	2	2	2	2	4	2	2	2	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.313C>G	p.Gln105Glu	p.Q105E	ENST00000418460	1/1	395	371	24	513	513	0	strelka-varscan	MAP10,missense_variant,p.Gln105Glu,ENST00000418460,NM_019090.2;	G	ENST00000418460	Transcript	missense_variant	445/3516	313/3144	105/1047	Q/E	Caa/Gaa		1		1	MAP10	HGNC	HGNC:29265	protein_coding	YES	CCDS44334.1	ENSP00000403208	Q9P2G4		UPI0000418F25	NM_019090.2	tolerated_low_confidence(0.48)		1/1																			MODERATE	1	SNV				1										PASS		.	.												G	3	3	10	232805336	232805336	C	G	1	0	0	0	0	1	0	0	0	9149	711	25	4		4	MAP10	1	232805336	Missense_Mutation	SNP	C	C3L-00095_TP	13593846	232805336	16151086	92	3473											
GPR137B	0	.	GRCh38	chr1	236142662	236142662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcgcggcagcgcccccGgcccgatggagaccccgccg	4	1	16	20	8	0	1	0	0	0	1	0	3	0	1	7	4	1	1	7	4	0	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.40G>T	p.Gly14Cys	p.G14C	ENST00000366592	1/7	126	114	12	141	141	0	strelka-varscan	GPR137B,missense_variant,p.Gly14Cys,ENST00000366592,NM_003272.3;GPR137B,missense_variant,p.Gly14Cys,ENST00000419162,;GPR137B,non_coding_transcript_exon_variant,,ENST00000366591,;	T	ENST00000366592	Transcript	missense_variant	131/2042	40/1200	14/399	G/C	Ggc/Tgc		1		1	GPR137B	HGNC	HGNC:11862	protein_coding	YES	CCDS1609.1	ENSP00000355551	O60478		UPI0000050441	NM_003272.3	deleterious(0.02)		1/7		hmmpanther:PTHR15146:SF0,hmmpanther:PTHR15146																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	236142662	236142662	G	T	1	0	0	0	0	1	0	0	0	6532	1116	39	1		1	GPR137B	1	236142662	Missense_Mutation	SNP	G	C3L-00095_TP	3337326	236142662	12813760	93	3474											
RYR2	0	.	GRCh38	chr1	237330980	237330980	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaccgtggagaaatcagaaGgggcaagtacccaatttatg	15	7	11	8	1	1	2	1	0	0	2	1	3	1	2	2	3	1	2	2	3	6	3	rs559267608		C3L-00095_TP	C3L-00095_NB	G	G																c.271G>T	p.Gly91Trp	p.G91W	ENST00000366574	3/105	369	336	33	421	420	1	strelka-varscan	RYR2,missense_variant,p.Gly91Trp,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Gly75Trp,ENST00000360064,;	T	ENST00000366574	Transcript	missense_variant,splice_region_variant	588/16562	271/14904	91/4967	G/W	Ggg/Tgg	rs559267608	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		3/105		Gene3D:2.80.10.50,Pfam_domain:PF08709,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	237330980	237330980	G	T	1	0	0	0	0	1	0	0	0	14029	1014	35	2		2	RYR2	1	237330980	Missense_Mutation	SNP	G	C3L-00095_TP	1188318	237330980	11625442	94	3475											
RYR2	0	.	GRCh38	chr1	237566596	237566596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagtgtgcagcggcaccGgggaaaggttccgaatcttc	9	7	14	11	4	1	0	0	0	1	0	3	3	2	1	3	4	2	3	3	4	3	2	rs774797663		C3L-00095_TP	C3L-00095_NB	G	G																c.3244G>T	p.Gly1082Trp	p.G1082W	ENST00000366574	28/105	186	171	15	195	195	0	strelka-varscan	RYR2,missense_variant,p.Gly1082Trp,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Gly1066Trp,ENST00000360064,;	T	ENST00000366574	Transcript	missense_variant	3561/16562	3244/14904	1082/4967	G/W	Ggg/Tgg	rs774797663	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.08)		28/105		PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	237566596	237566596	G	T	1	0	0	0	0	1	0	0	0	14029	1116	39	1		1	RYR2	1	237566596	Missense_Mutation	SNP	G	C3L-00095_TP	235616	237566596	11389826	95	3476											
RYR2	0	.	GRCh38	chr1	237756316	237756316	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggaaaagcaaaagcttcTataccagcaagcccgactcc	16	6	7	12	1	1	0	0	0	1	0	2	2	2	1	3	1	5	3	3	1	8	3	rs727505346		C3L-00095_TP	C3L-00095_NB	T	T																c.11174T>A	p.Leu3725Gln	p.L3725Q	ENST00000366574	81/105	166	146	20	166	166	0	strelka-varscan	RYR2,missense_variant,p.Leu3725Gln,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Leu3709Gln,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	A	ENST00000366574	Transcript	missense_variant	11491/16562	11174/14904	3725/4967	L/Q	cTa/cAa	rs727505346	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		81/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75										uncertain_significance							MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	10	237756316	237756316	T	A	1	0	0	0	0	1	0	0	0	14029	1522	53	4		4	RYR2	1	237756316	Missense_Mutation	SNP	T	C3L-00095_TP	189720	237756316	11200106	96	3477											
ZP4	0	.	GRCh38	chr1	237884786	237884786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacgactgagatcaggacagGtcaccacacaggatggtgtc	12	6	12	11	1	2	1	2	1	0	1	3	5	2	3	1	4	0	0	1	4	0	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1373C>A	p.Thr458Asn	p.T458N	ENST00000611898	10/13	182	159	23	194	194	0	strelka-varscan	ZP4,missense_variant,p.Thr458Asn,ENST00000611898,NM_021186.3;ZP4,missense_variant,p.Thr458Asn,ENST00000366570,;RP11-193H5.1,intron_variant,,ENST00000450451,;	T	ENST00000611898	Transcript	missense_variant	1660/2474	1373/1623	458/540	T/N	aCc/aAc		1		-1	ZP4	HGNC	HGNC:15770	protein_coding	YES	CCDS1615.1	ENSP00000482304	Q12836		UPI000006F0E4	NM_021186.3	deleterious(0.04)		10/13		Pfam_domain:PF00100,PROSITE_profiles:PS51034,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,SMART_domains:SM00241																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	10	237884786	237884786	G	T	1	0	0	0	0	1	0	0	0	18810	1261	44	2		2	ZP4	1	237884786	Missense_Mutation	SNP	G	C3L-00095_TP	128470	237884786	11071636	97	3478											
ZP4	0	.	GRCh38	chr1	237886789	237886789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaagatgctgtcacgaGtgacagagccacggctccca	11	6	11	13	2	1	4	1	2	0	2	2	5	2	4	3	1	2	2	3	1	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.821C>A	p.Thr274Asn	p.T274N	ENST00000611898	6/13	118	112	6	115	114	1	strelka-varscan	ZP4,missense_variant,p.Thr274Asn,ENST00000611898,NM_021186.3;ZP4,missense_variant,p.Thr274Asn,ENST00000366570,;RP11-193H5.1,intron_variant,,ENST00000450451,;	T	ENST00000611898	Transcript	missense_variant	1108/2474	821/1623	274/540	T/N	aCt/aAt		1		-1	ZP4	HGNC	HGNC:15770	protein_coding	YES	CCDS1615.1	ENSP00000482304	Q12836		UPI000006F0E4	NM_021186.3	deleterious(0)		6/13		Pfam_domain:PF00100,PROSITE_profiles:PS51034,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,SMART_domains:SM00241																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	10	237886789	237886789	G	T	1	0	0	0	0	1	0	0	0	18810	1029	36	2		2	ZP4	1	237886789	Missense_Mutation	SNP	G	C3L-00095_TP	2003	237886789	11069633	98	3479											
NLRP3	0	.	GRCh38	chr1	247423949	247423949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctcaacaaacgctacaCacgactgcgtctcatcaagg	13	6	8	14	3	3	0	3	0	1	0	4	2	3	0	1	1	5	1	1	1	4	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.506C>A	p.Thr169Lys	p.T169K	ENST00000336119	3/9	549	503	46	626	626	0	strelka-varscan	NLRP3,missense_variant,p.Thr169Lys,ENST00000366497,NM_001127461.2;NLRP3,missense_variant,p.Thr169Lys,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,missense_variant,p.Thr169Lys,ENST00000366496,;NLRP3,missense_variant,p.Thr169Lys,ENST00000391828,NM_001079821.2;NLRP3,missense_variant,p.Thr169Lys,ENST00000348069,NM_183395.2;NLRP3,missense_variant,p.Thr169Lys,ENST00000391827,NM_001127462.2;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	A	ENST00000336119	Transcript	missense_variant	1252/4170	506/3111	169/1036	T/K	aCa/aAa		1		1	NLRP3	HGNC	HGNC:16400	protein_coding	YES	CCDS1632.1	ENSP00000337383	Q96P20		UPI00001CE3AD	NM_004895.4,NM_001243133.1	deleterious(0)		3/9		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4,Pfam_domain:PF14484,SMART_domains:SM01288																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	247423949	247423949	C	A	1	0	0	0	0	1	0	0	0	10516	478	17	2		2	NLRP3	1	247423949	Missense_Mutation	SNP	C	C3L-00095_TP	9537160	247423949	1532473	99	3480											
OR2G3	0	.	GRCh38	chr1	247606393	247606394	+	Frame_Shift_Ins	INS	-	-	A																															tgacagctatgcccaggaccINSaagggaagtttatctccctc																								novel		C3L-00095_TP	C3L-00095_NB	-	-																c.810dupA	p.Gly271ArgfsTer?	p.G271Rfs*?	ENST00000320002	1/1	171	162	9	167	167	0	varindel-pindel	OR2G3,frameshift_variant,p.Gly271ArgfsTer?,ENST00000320002,NM_001001914.1;U6,downstream_gene_variant,,ENST00000637707,;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;	A	ENST00000320002	Transcript	frameshift_variant	808-809/930	808-809/930	270/309	Q/QX	caa/cAaa		1		1	OR2G3	HGNC	HGNC:15008	protein_coding	YES	CCDS31093.1	ENSP00000326301	Q8NGZ4	A0A126GVX0	UPI0000041CD9	NM_001001914.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF300,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	HIGH		insertion		2		1										PASS		.	.												A	7	5	10	247606393	247606393	-	A	1	0	1	1	0	0	0	0	0	11077	595	21	0		0	OR2G3	1	247606393	Frame_Shift_Ins	INS	-	C3L-00095_TP	182444	247606393	1350029	100	3481											
OR2L5	0	.	GRCh38	chr1	248022705	248022705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtaactttctactatgcacCctttgcttatacctatctat	10	17	3	11	0	2	0	0	0	2	0	2	0	2	0	2	0	5	3	2	0	7	9	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.758C>A	p.Pro253His	p.P253H	ENST00000355281	1/1	239	220	19	251	248	3	strelka-varscan	OR2L5,missense_variant,p.Pro253His,ENST00000355281,NM_001258284.1;	A	ENST00000355281	Transcript	missense_variant	758/939	758/939	253/312	P/H	cCc/cAc		1		1	OR2L5	HGNC	HGNC:15011	protein_coding	YES	CCDS58068.1	ENSP00000347428	Q8NG80	A0A126GWR8	UPI0000061EEE	NM_001258284.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF287,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	10	248022705	248022705	C	A	1	0	0	0	0	1	0	0	0	11087	623	22	2		2	OR2L5	1	248022705	Missense_Mutation	SNP	C	C3L-00095_TP	416312	248022705	933717	101	3482											
OR2M3	0	.	GRCh38	chr1	248203453	248203453	+	Missense_Mutation	SNP	C	C	A																															ctacactgccatttgccaccCtctaagatacaccaatctca																								novel		C3L-00095_TP	C3L-00095_NB	C	C																c.386C>A	p.Pro129His	p.P129H	ENST00000456743	1/1	196	156	40	231	231	0	strelka-varscan	OR2M3,missense_variant,p.Pro129His,ENST00000456743,NM_001004689.1;	A	ENST00000456743	Transcript	missense_variant	386/939	386/939	129/312	P/H	cCt/cAt		1		1	OR2M3	HGNC	HGNC:8269	protein_coding	YES	CCDS31107.1	ENSP00000389625	Q8NG83	A0A126GV67	UPI000004B234	NM_001004689.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF28,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	10	248203453	248203453	C	A	1	0	0	0	0	1	0	0	0	11089	681	24	2		2	OR2M3	1	248203453	Missense_Mutation	SNP	C	C3L-00095_TP	180748	248203453	752969	102	3483	77	2									
OR2M3	0	.	GRCh38	chr1	248203463	248203463	+	Nonsense_Mutation	SNP	C	C	G																															atttgccaccctctaagataCaccaatctcatgagccctaa																								rs61736249		C3L-00095_TP	C3L-00095_NB	C	C																c.396C>G	p.Tyr132Ter	p.Y132*	ENST00000456743	1/1	196	177	19	237	237	0	strelka-varscan	OR2M3,stop_gained,p.Tyr132Ter,ENST00000456743,NM_001004689.1;	G	ENST00000456743	Transcript	stop_gained	396/939	396/939	132/312	Y/*	taC/taG	rs61736249	1		1	OR2M3	HGNC	HGNC:8269	protein_coding	YES	CCDS31107.1	ENSP00000389625	Q8NG83	A0A126GV67	UPI000004B234	NM_001004689.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF28,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00245																	HIGH	1	SNV				1										PASS		.	.												G	4	3	10	248203463	248203463	C	G	1	0	0	0	0	0	1	0	0	11089	489	17	4		4	OR2M3	1	248203463	Nonsense_Mutation	SNP	C	C3L-00095_TP	10	248203463	752959	103	3484	77	2									
GREB1	0	.	GRCh38	chr2	11615278	11615278	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacaacgaggatgaggagCtggggacagaaggtgaggga	14	3	19	5	1	0	4	0	2	0	2	0	9	0	8	0	6	2	1	0	6	2	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.3310C>G	p.Leu1104Val	p.L1104V	ENST00000381486	20/33	141	130	11	201	201	0	strelka-varscan-mutect	GREB1,missense_variant,p.Leu1104Val,ENST00000381486,NM_014668.3;GREB1,missense_variant,p.Leu1104Val,ENST00000234142,;GREB1,missense_variant,p.Leu102Val,ENST00000396123,;GREB1,downstream_gene_variant,,ENST00000432985,;GREB1,non_coding_transcript_exon_variant,,ENST00000472040,;	G	ENST00000381486	Transcript	missense_variant	3610/8484	3310/5850	1104/1949	L/V	Ctg/Gtg		1		1	GREB1	HGNC	HGNC:24885	protein_coding	YES	CCDS42655.1	ENSP00000370896	Q4ZG55		UPI0000163937	NM_014668.3	deleterious(0.05)		20/33		Pfam_domain:PF15782,hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	10	11615278	11615278	C	G	1	0	0	0	0	1	0	0	0	6639	796	28	4		4	GREB1	2	11615278	Missense_Mutation	SNP	C	C3L-00095_TP		11615278	230578251	104	3485											
NT5C1B	0	.	GRCh38	chr2	18564064	18564064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagtaaccgttcatttttgGcatagaacttcttttgcagt	11	16	7	7	1	2	1	1	0	1	1	2	1	2	1	1	1	3	4	1	1	4	8	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1565C>A	p.Ala522Asp	p.A522D	ENST00000359846	10/10	94	85	9	92	92	0	strelka-varscan-mutect	NT5C1B,missense_variant,p.Ala462Asp,ENST00000304081,NM_033253.3;NT5C1B,missense_variant,p.Ala522Asp,ENST00000359846,NM_001002006.2,NM_001199087.1,NM_001199088.1,NM_001199086.1;NT5C1B-RDH14,missense_variant,p.Ala522Asp,ENST00000532967,NM_001199104.1;NT5C1B,missense_variant,p.Ala177Asp,ENST00000418427,;NT5C1B-RDH14,intron_variant,,ENST00000444297,NM_001199103.1;RDH14,upstream_gene_variant,,ENST00000381249,NM_020905.3;RDH14,upstream_gene_variant,,ENST00000468071,;NT5C1B,3_prime_UTR_variant,,ENST00000406971,;	T	ENST00000359846	Transcript	missense_variant	1643/2475	1565/1833	522/610	A/D	gCc/gAc		1		-1	NT5C1B	HGNC	HGNC:17818	protein_coding	YES	CCDS33150.1	ENSP00000352904	Q96P26	A0A140VJC7	UPI000035B1B0	NM_001002006.2,NM_001199087.1,NM_001199088.1,NM_001199086.1	tolerated(0.1)		10/10		Pfam_domain:PF06189,hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	18564064	18564064	G	T	1	0	0	0	0	1	0	0	0	10749	1203	42	2		2	NT5C1B	2	18564064	Missense_Mutation	SNP	G	C3L-00095_TP	6948786	18564064	223629465	105	3486											
TDRD15	0	.	GRCh38	chr2	21138073	21138073	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttagaagaattccctcaAcaaatgccagatttattaca	16	12	5	8	0	1	3	1	0	0	3	2	3	2	3	2	0	3	1	2	0	7	5	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.606A>G	p.=	p.Q202Q	ENST00000405799	4/4	121	112	9	119	119	0	strelka-varscan-mutect	TDRD15,synonymous_variant,p.=,ENST00000405799,;TDRD15,synonymous_variant,p.=,ENST00000622654,;	G	ENST00000405799	Transcript	synonymous_variant	936/6135	606/5805	202/1934	Q	caA/caG		1		1	TDRD15	HGNC	HGNC:45037	protein_coding	YES	CCDS77385.1	ENSP00000384376	B5MCY1		UPI000173A3F5				4/4		hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7																	LOW	1	SNV	2			1										PASS		.	.												G	2	3	10	21138073	21138073	A	G	1	0	0	0	0	0	0	0	1	16141	40	2	5		5	TDRD15	2	21138073	Silent	SNP	A	C3L-00095_TP	2574009	21138073	221055456	106	3487											
ASXL2	0	.	GRCh38	chr2	25742568	25742568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggctagggtcttttcatCaaatgtttggcctctagtga	7	16	10	8	0	5	1	2	1	3	0	5	1	5	1	1	3	0	2	1	3	3	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2218G>C	p.Asp740His	p.D740H	ENST00000404843	10/10	215	199	16	229	229	0	strelka-varscan	ASXL2,missense_variant,p.Asp1257His,ENST00000435504,NM_018263.4;ASXL2,missense_variant,p.Asp1229His,ENST00000336112,;ASXL2,missense_variant,p.Asp740His,ENST00000404843,;	G	ENST00000404843	Transcript	missense_variant	2656/3299	2218/2757	740/918	D/H	Gat/Cat		1		-1	ASXL2	HGNC	HGNC:23805	protein_coding	YES		ENSP00000383920	Q76L83		UPI0000246C78		deleterious(0)		10/10		hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	25742568	25742568	C	G	1	0	0	0	0	1	0	0	0	1215	826	29	4		4	ASXL2	2	25742568	Missense_Mutation	SNP	C	C3L-00095_TP	4604495	25742568	216450961	107	3488											
C2orf70	0	.	GRCh38	chr2	26576065	26576065	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccaccaaccccaacCtcctgctgatggagcgcgcc	7	8	7	19	2	2	1	0	1	2	0	4	2	3	2	7	1	4	1	7	1	2	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.238C>A	p.Leu80Ile	p.L80I	ENST00000329615	2/4	417	378	39	588	588	0	strelka-varscan	C2orf70,missense_variant,p.Pro67His,ENST00000409392,NM_001322426.1;C2orf70,missense_variant,p.Leu80Ile,ENST00000329615,NM_001105519.1;C2orf70,upstream_gene_variant,,ENST00000453368,;C2orf70,non_coding_transcript_exon_variant,,ENST00000479453,;	A	ENST00000329615	Transcript	missense_variant	269/731	238/606	80/201	L/I	Ctc/Atc		1		1	C2orf70	HGNC	HGNC:27938	protein_coding	YES	CCDS42661.1	ENSP00000332875	A6NJV1		UPI00001AFA74	NM_001105519.1	deleterious(0.02)		2/4		hmmpanther:PTHR34924:SF1,hmmpanther:PTHR34924,Pfam_domain:PF10629																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	26576065	26576065	C	A	1	0	0	0	0	1	0	0	0	2044	681	24	2		2	C2orf70	2	26576065	Missense_Mutation	SNP	C	C3L-00095_TP	833497	26576065	215617464	108	3489											
CAD	0	.	GRCh38	chr2	27223927	27223927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcaatagtgtccagtttCacccagagcaccaagctggc	10	10	8	13	0	3	1	2	0	1	1	4	1	4	1	3	1	2	3	3	1	3	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1006C>T	p.His336Tyr	p.H336Y	ENST00000264705	8/44	161	147	14	203	203	0	strelka-varscan	CAD,missense_variant,p.His336Tyr,ENST00000264705,NM_004341.3;CAD,missense_variant,p.His336Tyr,ENST00000403525,NM_001306079.1;CAD,upstream_gene_variant,,ENST00000464159,;CAD,upstream_gene_variant,,ENST00000491891,;	T	ENST00000264705	Transcript	missense_variant	1168/7265	1006/6678	336/2225	H/Y	Cac/Tac		1		1	CAD	HGNC	HGNC:1424	protein_coding	YES	CCDS1742.1	ENSP00000264705	P27708		UPI000013D558	NM_004341.3	deleterious(0.02)		8/44		Gene3D:3.40.50.880,HAMAP:MF_01209,Pfam_domain:PF00117,PROSITE_profiles:PS51273,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF5,Superfamily_domains:SSF52317,TIGRFAM_domain:TIGR01368																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	27223927	27223927	C	T	1	0	0	0	0	1	0	0	0	2255	826	29	3		3	CAD	2	27223927	Missense_Mutation	SNP	C	C3L-00095_TP	647862	27223927	214969602	109	3490											
GPN1	0	.	GRCh38	chr2	27629390	27629390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagggcatactcggtccaGcttaccacgttgtacaggaa	10	10	10	11	2	1	0	1	0	0	0	3	1	2	1	2	3	4	4	2	3	4	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.23G>T	p.Ser8Ile	p.S8I	ENST00000407583	2/15	187	174	13	156	155	1	strelka-varscan	GPN1,missense_variant,p.Ser8Ile,ENST00000407583,NM_001145047.1;GPN1,intron_variant,,ENST00000264718,;GPN1,intron_variant,,ENST00000616939,NM_007266.3;GPN1,intron_variant,,ENST00000610189,;GPN1,intron_variant,,ENST00000424214,NM_001145048.1;GPN1,intron_variant,,ENST00000515877,;GPN1,intron_variant,,ENST00000458167,NM_001145049.1;GPN1,intron_variant,,ENST00000503738,;CCDC121,upstream_gene_variant,,ENST00000324364,NM_024584.4;CCDC121,upstream_gene_variant,,ENST00000394775,NM_001142683.2;CCDC121,upstream_gene_variant,,ENST00000522876,;GPN1,non_coding_transcript_exon_variant,,ENST00000461249,;RP11-158I13.2,intron_variant,,ENST00000505973,;GPN1,intron_variant,,ENST00000481754,;GPN1,intron_variant,,ENST00000478484,;GPN1,intron_variant,,ENST00000436280,;	T	ENST00000407583	Transcript	missense_variant	73/1395	23/1089	8/362	S/I	aGc/aTc		1		1	GPN1	HGNC	HGNC:17030	protein_coding		CCDS46248.1	ENSP00000384255	Q9HCN4		UPI000173A56D	NM_001145047.1	tolerated(0.09)		2/15																			MODERATE		SNV	1			1										PASS		.	.												T	3	4	10	27629390	27629390	G	T	1	0	0	0	0	1	0	0	0	6519	971	34	2		2	GPN1	2	27629390	Missense_Mutation	SNP	G	C3L-00095_TP	405463	27629390	214564139	110	3491											
C2orf71	0	.	GRCh38	chr2	29072023	29072023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgtccttagagtcccccaGcatcctcagactctccgtgg	7	9	9	16	2	2	2	1	0	1	2	6	2	5	2	5	1	2	1	5	1	1	1			C3L-00095_TP	C3L-00095_NB	G	G																c.2239C>A	p.Leu747Met	p.L747M	ENST00000331664	1/2	128	120	8	227	227	0	strelka-varscan	C2orf71,missense_variant,p.Leu747Met,ENST00000331664,NM_001029883.2;	T	ENST00000331664	Transcript	missense_variant	2239/7044	2239/3867	747/1288	L/M	Ctg/Atg	COSM1019982	1		-1	C2orf71	HGNC	HGNC:34383	protein_coding	YES	CCDS42669.1	ENSP00000332809	A6NGG8		UPI0000251DD8	NM_001029883.2	tolerated(0.16)		1/2		Pfam_domain:PF15449,hmmpanther:PTHR22017											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	10	29072023	29072023	G	T	1	0	0	0	0	1	0	0	0	2045	962	34	2		2	C2orf71	2	29072023	Missense_Mutation	SNP	G	C3L-00095_TP	1442633	29072023	213121506	111	3492											
ALK	0	.	GRCh38	chr2	29532061	29532061	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgctgctcctcatccaCggactcaggatggtgtgctt	6	12	10	13	1	3	0	3	0	0	0	5	2	5	2	2	3	3	3	2	3	0	1	rs757878984		C3L-00095_TP	C3L-00095_NB	C	C																c.1008G>T	p.=	p.P336P	ENST00000389048	4/29	641	608	33	793	793	0	strelka-varscan	ALK,synonymous_variant,p.=,ENST00000389048,NM_004304.4;ALK,5_prime_UTR_variant,,ENST00000618119,;	A	ENST00000389048	Transcript	synonymous_variant	1915/6220	1008/4863	336/1620	P	ccG/ccT	rs757878984	1		-1	ALK	HGNC	HGNC:427	protein_coding	YES	CCDS33172.1	ENSP00000373700	Q9UM73		UPI00001684DA	NM_004304.4			4/29		PROSITE_profiles:PS50060,Pfam_domain:PF00629,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	29532061	29532061	C	A	1	0	0	0	0	0	0	0	1	625	523	19	1		1	ALK	2	29532061	Silent	SNP	C	C3L-00095_TP	460038	29532061	212661468	112	3493											
CAPN13	0	.	GRCh38	chr2	30758118	30758118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggagataatttcttccCagccccttcggtattgaatc	10	12	8	11	1	1	2	0	1	1	1	4	3	2	2	3	2	1	1	3	2	3	6	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.794G>T	p.Trp265Leu	p.W265L	ENST00000295055	8/23	87	78	9	92	92	0	strelka-varscan	CAPN13,missense_variant,p.Trp265Leu,ENST00000295055,NM_144575.2;CAPN13,non_coding_transcript_exon_variant,,ENST00000465960,;CAPN13,missense_variant,p.Trp265Leu,ENST00000458085,;	A	ENST00000295055	Transcript	missense_variant	971/2683	794/2010	265/669	W/L	tGg/tTg		1		-1	CAPN13	HGNC	HGNC:16663	protein_coding	YES	CCDS46252.1	ENSP00000295055	Q6MZZ7		UPI00000463E5	NM_144575.2	deleterious(0.03)		8/23		Gene3D:3.90.70.10,Pfam_domain:PF00648,PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF282,SMART_domains:SM00230,Superfamily_domains:SSF54001																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	30758118	30758118	C	A	1	0	0	0	0	1	0	0	0	2318	595	21	2		2	CAPN13	2	30758118	Missense_Mutation	SNP	C	C3L-00095_TP	1226057	30758118	211435411	113	3494											
SPAST	0	.	GRCh38	chr2	32114737	32114737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactggatctgcaggcctttCaggccaccatagagcaccta	11	8	9	13	0	2	1	1	0	1	1	2	2	2	2	4	3	3	2	4	3	3	3	rs768241184		C3L-00095_TP	C3L-00095_NB	C	C																c.782C>T	p.Ser261Leu	p.S261L	ENST00000615843	5/17	374	343	31	446	446	0	strelka-varscan	SPAST,missense_variant,p.Ser261Leu,ENST00000615843,NM_014946.3;SPAST,missense_variant,p.Ser261Leu,ENST00000315285,;SPAST,missense_variant,p.Ser229Leu,ENST00000345662,NM_199436.1;SPAST,missense_variant,p.Ser175Leu,ENST00000621856,;	T	ENST00000615843	Transcript	missense_variant	1003/5212	782/1851	261/616	S/L	tCa/tTa	rs768241184,CM000430,CM107565,COSM4508630	1		1	SPAST	HGNC	HGNC:11233	protein_coding	YES	CCDS1778.1	ENSP00000480893	Q9UBP0	E5KRP5	UPI0000038A6B	NM_014946.3	tolerated(0.05)		5/17		HAMAP:MF_03021,PIRSF_domain:PIRSF037338,hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF86											0,0,0,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		.	.												T	3	4	10	32114737	32114737	C	T	1	0	0	0	0	1	0	0	0	15328	838	29	3		3	SPAST	2	32114737	Missense_Mutation	SNP	C	C3L-00095_TP	1356619	32114737	210078792	114	3495											
LTBP1	0	.	GRCh38	chr2	33187010	33187010	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccagcagccaggcaaggcGttggggacgcatgtcatcca	9	6	13	13	2	1	0	1	0	0	0	3	1	3	1	3	4	2	4	3	4	1	1	rs1065324		C3L-00095_TP	C3L-00095_NB	G	G																c.1356G>T	p.=	p.A452A	ENST00000404816	6/34	278	255	23	305	305	0	strelka-varscan	LTBP1,synonymous_variant,p.=,ENST00000404816,NM_206943.2;LTBP1,synonymous_variant,p.=,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,synonymous_variant,p.=,ENST00000404525,NM_001166265.1;LTBP1,synonymous_variant,p.=,ENST00000407925,NM_000627.3;LTBP1,synonymous_variant,p.=,ENST00000402934,;LTBP1,synonymous_variant,p.=,ENST00000432635,;	T	ENST00000404816	Transcript	synonymous_variant	1709/6333	1356/5166	452/1721	A	gcG/gcT	rs1065324	1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2			6/34		hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF39																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	10	33187010	33187010	G	T	1	0	0	0	0	0	0	0	1	8979	1132	40	1		1	LTBP1	2	33187010	Silent	SNP	G	C3L-00095_TP	1072273	33187010	209006519	115	3496											
NRXN1	0	.	GRCh38	chr2	50620119	50620119	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaagtcatcagaccccAgcatggtataatcttcttgc	14	10	7	10	0	4	2	2	0	2	2	4	2	4	2	2	1	2	2	2	1	4	4	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.1343T>C	p.Leu448Pro	p.L448P	ENST00000404971	9/24	167	155	12	231	231	0	strelka-varscan	NRXN1,missense_variant,p.Leu408Pro,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Leu400Pro,ENST00000625672,;NRXN1,missense_variant,p.Leu448Pro,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Leu408Pro,ENST00000401669,;NRXN1,missense_variant,p.Leu396Pro,ENST00000405472,;NRXN1,missense_variant,p.Leu400Pro,ENST00000630543,;NRXN1,missense_variant,p.Leu380Pro,ENST00000628515,;NRXN1,missense_variant,p.Leu138Pro,ENST00000406859,;NRXN1,missense_variant,p.Leu123Pro,ENST00000402717,;NRXN1,missense_variant,p.Leu135Pro,ENST00000625891,;NRXN1,upstream_gene_variant,,ENST00000495871,;RP11-358H12.1,upstream_gene_variant,,ENST00000634985,;NRXN1,non_coding_transcript_exon_variant,,ENST00000636298,;NRXN1,non_coding_transcript_exon_variant,,ENST00000628761,;NRXN1,downstream_gene_variant,,ENST00000630431,;NRXN1,upstream_gene_variant,,ENST00000637605,;NRXN1,missense_variant,p.Leu135Pro,ENST00000331040,;NRXN1,3_prime_UTR_variant,,ENST00000626249,;	G	ENST00000404971	Transcript	missense_variant	2683/7578	1343/4644	448/1547	L/P	cTg/cCg		1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	deleterious(0)		9/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	50620119	50620119	A	G	1	0	0	0	0	1	0	0	0	10724	188	7	5		5	NRXN1	2	50620119	Missense_Mutation	SNP	A	C3L-00095_TP	17433109	50620119	191573410	116	3497											
SPTBN1	0	.	GRCh38	chr2	54668375	54668375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatgaacacatggatccagGctatctcttccgccatctcc	11	10	6	14	1	2	1	0	1	2	0	6	2	4	2	4	2	1	1	4	2	3	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.6901G>A	p.Ala2301Thr	p.A2301T	ENST00000356805	36/36	284	254	30	381	381	0	strelka-varscan	SPTBN1,missense_variant,p.Ala2303Thr,ENST00000615901,;SPTBN1,missense_variant,p.Ala2301Thr,ENST00000356805,NM_003128.2;AC093110.3,intron_variant,,ENST00000626206,;SPTBN1,non_coding_transcript_exon_variant,,ENST00000467371,;	A	ENST00000356805	Transcript	missense_variant	7182/8482	6901/7095	2301/2364	A/T	Gct/Act		1		1	SPTBN1	HGNC	HGNC:11275	protein_coding	YES	CCDS33198.1	ENSP00000349259	Q01082	B2ZZ89	UPI0000DBEE4B	NM_003128.2	tolerated(0.19)		36/36		PROSITE_profiles:PS50003,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF325,PIRSF_domain:PIRSF002297,Gene3D:2.30.29.30,Pfam_domain:PF15410,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	54668375	54668375	G	A	1	0	0	0	0	1	0	0	0	15475	1203	42	3		3	SPTBN1	2	54668375	Missense_Mutation	SNP	G	C3L-00095_TP	4048256	54668375	187525154	117	3498											
USP34	0	.	GRCh38	chr2	61347963	61347963	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attcattcccaatagtctccCcaaggaagtccccagttcgt	10	11	6	14	1	2	0	1	0	1	0	6	1	4	1	5	1	0	1	5	1	4	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2192G>T	p.Gly731Val	p.G731V	ENST00000398571	15/80	255	240	15	366	365	1	strelka-varscan	USP34,missense_variant,p.Gly731Val,ENST00000398571,NM_014709.3;USP34,non_coding_transcript_exon_variant,,ENST00000460004,;USP34,downstream_gene_variant,,ENST00000453133,;	A	ENST00000398571	Transcript	missense_variant	2269/11357	2192/10641	731/3546	G/V	gGg/gTg		1		-1	USP34	HGNC	HGNC:20066	protein_coding	YES	CCDS42686.1	ENSP00000381577	Q70CQ2		UPI0000410E09	NM_014709.3	deleterious_low_confidence(0.02)		15/80																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	10	61347963	61347963	C	A	1	0	0	0	0	1	0	0	0	17607	623	22	2		2	USP34	2	61347963	Missense_Mutation	SNP	C	C3L-00095_TP	6679588	61347963	180845566	118	3499											
OTX1	0	.	GRCh38	chr2	63055997	63055997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttggcggcgtggactgcaGctcatacctagcgcccatgc	6	9	12	14	3	1	0	1	0	0	0	1	1	1	1	2	3	5	2	2	3	2	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.746G>T	p.Ser249Ile	p.S249I	ENST00000282549	5/5	447	401	46	572	572	0	strelka-varscan	OTX1,missense_variant,p.Ser249Ile,ENST00000282549,NM_014562.3;OTX1,missense_variant,p.Ser249Ile,ENST00000366671,NM_001199770.1;OTX1,3_prime_UTR_variant,,ENST00000405984,;OTX1,downstream_gene_variant,,ENST00000484066,;OTX1,downstream_gene_variant,,ENST00000477348,;OTX1,downstream_gene_variant,,ENST00000476383,;	T	ENST00000282549	Transcript	missense_variant	1022/2861	746/1065	249/354	S/I	aGc/aTc		1		1	OTX1	HGNC	HGNC:8521	protein_coding	YES	CCDS1873.1	ENSP00000282549	P32242		UPI0000130F36	NM_014562.3	deleterious(0)		5/5		hmmpanther:PTHR24329:SF310,hmmpanther:PTHR24329,Pfam_domain:PF03529,Prints_domain:PR01255																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	63055997	63055997	G	T	1	0	0	0	0	1	0	0	0	11390	971	34	2		2	OTX1	2	63055997	Missense_Mutation	SNP	G	C3L-00095_TP	1708034	63055997	179137532	119	3500											
MEIS1	0	.	GRCh38	chr2	66571280	66571280	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggggagtatgtagcccgGggtggtccaatgggtgtgag	7	8	19	7	1	0	1	0	1	0	0	1	2	1	2	3	6	1	2	3	6	3	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1143G>T	p.=	p.R381R	ENST00000398506	11/11	279	254	25	354	354	0	strelka-varscan	MEIS1,synonymous_variant,p.=,ENST00000398506,;MEIS1,3_prime_UTR_variant,,ENST00000488550,;MEIS1,3_prime_UTR_variant,,ENST00000272369,NM_002398.2;MEIS1,3_prime_UTR_variant,,ENST00000495021,;MEIS1,downstream_gene_variant,,ENST00000560281,;AC007392.3,upstream_gene_variant,,ENST00000433396,;MEIS1,non_coding_transcript_exon_variant,,ENST00000409517,;MEIS1,downstream_gene_variant,,ENST00000475239,;MEIS1,downstream_gene_variant,,ENST00000606455,;MEIS1,downstream_gene_variant,,ENST00000450027,;MEIS1,downstream_gene_variant,,ENST00000542964,;	T	ENST00000398506	Transcript	synonymous_variant	1481/3530	1143/1392	381/463	R	cgG/cgT		1		1	MEIS1	HGNC	HGNC:7000	protein_coding			ENSP00000381518	O00470		UPI00005BDA98				11/11		hmmpanther:PTHR11850:SF126,hmmpanther:PTHR11850																	LOW		SNV	5			1										PASS		.	.												T	2	4	10	66571280	66571280	G	T	1	0	0	0	0	0	0	0	1	9411	1219	43	2		2	MEIS1	2	66571280	Silent	SNP	G	C3L-00095_TP	3515283	66571280	175622249	120	3501											
GFPT1	0	.	GRCh38	chr2	69358361	69358361	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactctctccaccaaggtagTaaagctggtatcttgacttt	11	13	7	10	0	2	1	0	1	2	0	4	1	3	1	2	2	2	4	2	2	6	5	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.511A>T	p.Thr171Ser	p.T171S	ENST00000357308	6/20	415	384	31	372	372	0	strelka-varscan	GFPT1,missense_variant,p.Thr171Ser,ENST00000357308,NM_001244710.1;GFPT1,missense_variant,p.Thr171Ser,ENST00000361060,NM_002056.3;GFPT1,non_coding_transcript_exon_variant,,ENST00000493759,;	A	ENST00000357308	Transcript	missense_variant	694/8703	511/2100	171/699	T/S	Act/Tct		1		-1	GFPT1	HGNC	HGNC:4241	protein_coding	YES	CCDS58713.1	ENSP00000349860	Q06210		UPI000015C8AD	NM_001244710.1	tolerated(1)		6/20		PROSITE_profiles:PS51278,hmmpanther:PTHR10937,hmmpanther:PTHR10937:SF2,Gene3D:3.60.20.10,Pfam_domain:PF13522,Superfamily_domains:SSF56235																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	69358361	69358361	T	A	1	0	0	0	0	1	0	0	0	6219	1638	57	4		4	GFPT1	2	69358361	Missense_Mutation	SNP	T	C3L-00095_TP	2787081	69358361	172835168	121	3502											
EMX1	0	.	GRCh38	chr2	72918167	72918167	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgccgcggccgccgcGggcgcgggccgctcgctcta	1	6	15	19	9	1	0	0	0	1	0	3	0	2	0	5	3	1	2	5	3	1	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.315G>T	p.=	p.A105A	ENST00000258106	1/3	102	94	8	148	148	0	strelka-varscan	EMX1,synonymous_variant,p.=,ENST00000258106,NM_004097.2;EMX1,intron_variant,,ENST00000394111,;EMX1,upstream_gene_variant,,ENST00000473732,;	T	ENST00000258106	Transcript	synonymous_variant	693/2188	315/873	105/290	A	gcG/gcT		1		1	EMX1	HGNC	HGNC:3340	protein_coding	YES	CCDS1921.2	ENSP00000258106	Q04741		UPI0000D47CF7	NM_004097.2			1/3		hmmpanther:PTHR24339,hmmpanther:PTHR24339:SF26,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	72918167	72918167	G	T	1	0	0	0	0	0	0	0	1	4949	1103	39	1		1	EMX1	2	72918167	Silent	SNP	G	C3L-00095_TP	3559806	72918167	169275362	122	3503											
LRRTM1	0	.	GRCh38	chr2	80302937	80302937	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaggatccggggctcgaTgtaggtgaggcggttggagt	6	10	20	5	3	0	2	0	2	0	0	2	5	1	4	1	7	0	4	1	7	1	3	rs76300062		C3L-00095_TP	C3L-00095_NB	T	T																c.883A>T	p.Ile295Phe	p.I295F	ENST00000295057	2/2	149	131	18	245	245	0	strelka-varscan	LRRTM1,missense_variant,p.Ile295Phe,ENST00000295057,;LRRTM1,missense_variant,p.Ile295Phe,ENST00000409148,NM_178839.4;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.2;CTNNA2,intron_variant,,ENST00000629316,NM_001164883.1;CTNNA2,upstream_gene_variant,,ENST00000541047,NM_001282600.1;LRRTM1,downstream_gene_variant,,ENST00000416268,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000415098,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.Ile295Phe,ENST00000433224,;LRRTM1,missense_variant,p.Ile295Phe,ENST00000417012,;	A	ENST00000295057	Transcript	missense_variant	1540/2599	883/1569	295/522	I/F	Atc/Ttc	rs76300062	1		-1	LRRTM1	HGNC	HGNC:19408	protein_coding	YES	CCDS1966.1	ENSP00000295057	Q86UE6		UPI000013E1FE		deleterious(0)		2/2		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	80302937	80302937	T	A	1	0	0	0	0	1	0	0	0	8945	1464	51	4		4	LRRTM1	2	80302937	Missense_Mutation	SNP	T	C3L-00095_TP	7384770	80302937	161890592	123	3504											
DNAH6	0	.	GRCh38	chr2	84685387	84685387	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagatatttagactcttttgCcatgagtgccaaagggtctt	10	14	9	8	0	2	3	0	1	2	2	2	3	2	3	2	1	2	0	2	1	3	6	rs761172209		C3L-00095_TP	C3L-00095_NB	C	C																c.6978C>T	p.=	p.C2326C	ENST00000389394	43/77	187	177	10	146	146	0	strelka-varscan	DNAH6,synonymous_variant,p.=,ENST00000389394,NM_001370.1;DNAH6,synonymous_variant,p.=,ENST00000237449,;DNAH6,intron_variant,,ENST00000602588,;	T	ENST00000389394	Transcript	synonymous_variant	7115/12795	6978/12477	2326/4158	C	tgC/tgT	rs761172209,COSM4141267	1		1	DNAH6	HGNC	HGNC:2951	protein_coding	YES	CCDS46348.1	ENSP00000374045	Q9C0G6		UPI000163AC9D	NM_001370.1			43/77		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136,Pfam_domain:PF12775,Superfamily_domains:SSF52540											0,1						LOW	1	SNV	5		0,1	1										PASS		.	.												T	2	4	10	84685387	84685387	C	T	1	0	0	0	0	0	0	0	1	4420	747	26	3		3	DNAH6	2	84685387	Silent	SNP	C	C3L-00095_TP	4382450	84685387	157508142	124	3505											
ZNF514	0	.	GRCh38	chr2	95149708	95149708	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcactgcattcataGggcttttctccagtatgagt	9	14	7	11	0	3	1	2	1	1	0	4	1	3	1	2	1	1	3	2	1	2	6	rs140564139		C3L-00095_TP	C3L-00095_NB	G	G																c.777C>G	p.=	p.P259P	ENST00000295208	5/5	237	217	20	284	284	0	strelka-varscan	ZNF514,synonymous_variant,p.=,ENST00000295208,NM_032788.1;ZNF514,synonymous_variant,p.=,ENST00000411425,;ZNF514,downstream_gene_variant,,ENST00000447814,;MRPS5,upstream_gene_variant,,ENST00000475040,;ZNF514,non_coding_transcript_exon_variant,,ENST00000496060,;	C	ENST00000295208	Transcript	synonymous_variant	1240/3011	777/1203	259/400	P	ccC/ccG	rs140564139,COSM3583972	1		-1	ZNF514	HGNC	HGNC:25894	protein_coding	YES	CCDS2011.1	ENSP00000295208	Q96K75		UPI0000070647	NM_032788.1			5/5		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF2,Superfamily_domains:SSF57667											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												C	2	2	10	95149708	95149708	G	C	1	0	0	0	0	0	0	0	1	18531	987	35	4		4	ZNF514	2	95149708	Silent	SNP	G	C3L-00095_TP	10464321	95149708	147043821	125	3506											
NCAPH	0	.	GRCh38	chr2	96360710	96360710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacctcaaaccaggcaccagGgtaagcctatttcttggttc	10	10	8	13	0	2	0	1	0	1	0	3	0	2	0	4	3	2	3	4	3	3	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1587G>T	p.Arg529Ser	p.R529S	ENST00000240423	12/18	121	110	11	164	163	1	strelka-varscan	NCAPH,missense_variant,p.Arg518Ser,ENST00000455200,;NCAPH,missense_variant,p.Arg529Ser,ENST00000240423,NM_015341.4,NM_001281710.1,NM_001281711.1;NCAPH,missense_variant,p.Arg393Ser,ENST00000427946,NM_001281712.1;NCAPH,missense_variant,p.Arg518Ser,ENST00000435975,;NCAPH,upstream_gene_variant,,ENST00000435349,;NCAPH,downstream_gene_variant,,ENST00000477409,;	T	ENST00000240423	Transcript	missense_variant,splice_region_variant	1630/2763	1587/2226	529/741	R/S	agG/agT		1		1	NCAPH	HGNC	HGNC:1112	protein_coding	YES	CCDS2021.1	ENSP00000240423	Q15003		UPI0000163F72	NM_015341.4,NM_001281710.1,NM_001281711.1	tolerated(0.27)		12/18		hmmpanther:PTHR13108,Pfam_domain:PF05786,PIRSF_domain:PIRSF017126																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	96360710	96360710	G	T	1	0	0	0	0	1	0	0	0	10225	1246	43	2		2	NCAPH	2	96360710	Missense_Mutation	SNP	G	C3L-00095_TP	1211002	96360710	145832819	126	3507											
MFSD9	0	.	GRCh38	chr2	102719105	102719105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggctgcctcctgcactGtgtcatggctccttcccaac	4	12	10	15	0	1	0	1	0	0	0	4	0	4	0	4	3	3	3	4	3	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.740C>T	p.Thr247Ile	p.T247I	ENST00000258436	6/6	249	214	35	282	281	1	strelka-varscan	MFSD9,missense_variant,p.Thr247Ile,ENST00000258436,NM_032718.3;MFSD9,upstream_gene_variant,,ENST00000496253,;MFSD9,3_prime_UTR_variant,,ENST00000438943,;MFSD9,3_prime_UTR_variant,,ENST00000437075,;MFSD9,3_prime_UTR_variant,,ENST00000411991,;MFSD9,3_prime_UTR_variant,,ENST00000428085,;	A	ENST00000258436	Transcript	missense_variant	784/4049	740/1425	247/474	T/I	aCa/aTa		1		-1	MFSD9	HGNC	HGNC:28158	protein_coding	YES	CCDS2063.1	ENSP00000258436	Q8NBP5		UPI0000070215	NM_032718.3	tolerated(0.18)		6/6		PROSITE_profiles:PS50850,hmmpanther:PTHR23504,hmmpanther:PTHR23504:SF14,Pfam_domain:PF07690																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	102719105	102719105	G	A	1	0	0	0	0	1	0	0	0	9497	1377	48	3		3	MFSD9	2	102719105	Missense_Mutation	SNP	G	C3L-00095_TP	6358395	102719105	139474424	127	3508											
GCC2	0	.	GRCh38	chr2	108481725	108481725	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attagaatatgaaaagcagtCagagcaactggatgtggaaa	18	8	11	4	0	1	3	1	1	0	2	1	5	1	5	0	2	3	2	0	2	7	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.3089C>G	p.Ser1030Ter	p.S1030*	ENST00000309863	10/23	134	120	14	118	118	0	strelka-varscan	GCC2,stop_gained,p.Ser1030Ter,ENST00000309863,NM_181453.3;GCC2,stop_gained,p.Ser10Ter,ENST00000393321,;GCC2,missense_variant,p.Gln64Glu,ENST00000447558,;GCC2,3_prime_UTR_variant,,ENST00000482325,;GCC2,upstream_gene_variant,,ENST00000481729,;	G	ENST00000309863	Transcript	stop_gained	3803/7537	3089/5055	1030/1684	S/*	tCa/tGa		1		1	GCC2	HGNC	HGNC:23218	protein_coding	YES	CCDS33268.1	ENSP00000307939	Q8IWJ2		UPI000049DF0C	NM_181453.3			10/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF25																	HIGH	1	SNV	5			1										PASS		.	.												G	4	3	10	108481725	108481725	C	G	1	0	0	0	0	0	1	0	0	6156	838	29	4		4	GCC2	2	108481725	Nonsense_Mutation	SNP	C	C3L-00095_TP	5762620	108481725	133711804	128	3509											
SH3RF3	0	.	GRCh38	chr2	109490820	109490820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcagggtgccatggggatGgagcctctgcacaggaaggc	9	6	17	9	0	1	0	0	0	1	0	1	3	1	3	2	6	4	2	2	6	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2364G>T	p.Met788Ile	p.M788I	ENST00000309415	9/10	122	115	7	181	181	0	strelka-varscan	SH3RF3,missense_variant,p.Met788Ile,ENST00000309415,NM_001099289.2;	T	ENST00000309415	Transcript	missense_variant	2557/5803	2364/2649	788/882	M/I	atG/atT		1		1	SH3RF3	HGNC	HGNC:24699	protein_coding	YES	CCDS74557.1	ENSP00000309186	Q8TEJ3		UPI0000DD7AEA	NM_001099289.2	tolerated(0.08)		9/10																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	109490820	109490820	G	T	1	0	0	0	0	1	0	0	0	14519	1348	47	2		2	SH3RF3	2	109490820	Missense_Mutation	SNP	G	C3L-00095_TP	1009095	109490820	132702709	129	3510											
POLR1B	0	.	GRCh38	chr2	112549295	112549295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggctattttataatcaatgGcattgaaaaagtcatccgaa	15	12	8	6	1	2	1	2	1	0	0	3	2	3	1	1	2	0	2	1	2	7	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.635G>T	p.Gly212Val	p.G212V	ENST00000541869	5/16	228	215	13	189	189	0	strelka-varscan	POLR1B,missense_variant,p.Gly212Val,ENST00000541869,NM_001282772.1;POLR1B,missense_variant,p.Gly174Val,ENST00000263331,NM_019014.5;POLR1B,missense_variant,p.Gly174Val,ENST00000409894,NM_001282774.1;POLR1B,missense_variant,p.Gly118Val,ENST00000417433,NM_001137604.2,NM_001282779.1,NM_001282777.1;POLR1B,intron_variant,,ENST00000537335,NM_001282776.1;POLR1B,downstream_gene_variant,,ENST00000430769,;POLR1B,downstream_gene_variant,,ENST00000438748,;POLR1B,non_coding_transcript_exon_variant,,ENST00000496238,;POLR1B,upstream_gene_variant,,ENST00000498054,;POLR1B,3_prime_UTR_variant,,ENST00000333990,;POLR1B,3_prime_UTR_variant,,ENST00000424062,;POLR1B,non_coding_transcript_exon_variant,,ENST00000468475,;POLR1B,intron_variant,,ENST00000448770,;POLR1B,intron_variant,,ENST00000430293,;POLR1B,upstream_gene_variant,,ENST00000475318,;	T	ENST00000541869	Transcript	missense_variant	751/5059	635/3522	212/1173	G/V	gGc/gTc		1		1	POLR1B	HGNC	HGNC:20454	protein_coding	YES	CCDS62988.1	ENSP00000444136	Q9H9Y6		UPI0002065A70	NM_001282772.1	deleterious(0.01)		5/16		Gene3D:2a6hC02,Pfam_domain:PF04563,hmmpanther:PTHR20856,hmmpanther:PTHR20856:SF5,Superfamily_domains:SSF64484																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	10	112549295	112549295	G	T	1	0	0	0	0	1	0	0	0	12320	1203	42	2		2	POLR1B	2	112549295	Missense_Mutation	SNP	G	C3L-00095_TP	3058475	112549295	129644234	130	3511											
DPP10	0	.	GRCh38	chr2	115746135	115746135	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atatgttgtaaacctgtatgGaccaactcacactttggagc	12	12	8	9	0	1	0	1	0	0	0	1	2	1	2	2	2	3	3	2	2	5	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.914G>C	p.Gly305Ala	p.G305A	ENST00000393147	10/26	249	228	21	257	257	0	strelka-varscan	DPP10,missense_variant,p.Gly301Ala,ENST00000410059,NM_001321910.1,NM_001321911.1,NM_001321914.1,NM_001321905.1,NM_001321906.1,NM_020868.3;DPP10,missense_variant,p.Gly251Ala,ENST00000409163,NM_001178036.1,NM_001178037.1;DPP10,missense_variant,p.Gly294Ala,ENST00000310323,NM_001004360.3;DPP10,missense_variant,p.Gly305Ala,ENST00000393147,NM_001178034.1;	C	ENST00000393147	Transcript	missense_variant	1269/2758	914/2403	305/800	G/A	gGa/gCa		1		1	DPP10	HGNC	HGNC:20823	protein_coding	YES	CCDS54388.1	ENSP00000376855	Q8N608		UPI00015E0A22	NM_001178034.1	deleterious(0.02)		10/26		hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Gene3D:2.140.10.30,Pfam_domain:PF00930,Superfamily_domains:SSF82171																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	115746135	115746135	G	C	1	0	0	0	0	1	0	0	0	4542	1174	41	4		4	DPP10	2	115746135	Missense_Mutation	SNP	G	C3L-00095_TP	3196840	115746135	126447394	131	3512											
GLI2	0	.	GRCh38	chr2	120988976	120988976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgacggcggcctggcccGcggcgcctactcgccccggc	3	3	14	21	8	0	0	0	0	0	0	1	1	0	0	6	5	1	0	6	5	1	1	rs749819734		C3L-00095_TP	C3L-00095_NB	G	G																c.3062G>T	p.Arg1021Leu	p.R1021L	ENST00000452319	14/14	180	158	22	199	198	1	strelka-varscan	GLI2,missense_variant,p.Arg1021Leu,ENST00000452319,;GLI2,missense_variant,p.Arg1021Leu,ENST00000361492,NM_005270.4;GLI2,downstream_gene_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000438299,;GLI2,3_prime_UTR_variant,,ENST00000452692,;GLI2,downstream_gene_variant,,ENST00000437950,;	T	ENST00000452319	Transcript	missense_variant	3122/6799	3062/4761	1021/1586	R/L	cGc/cTc	rs749819734,COSM4168845	1		1	GLI2	HGNC	HGNC:4318	protein_coding	YES	CCDS33283.1	ENSP00000390436	P10070		UPI000053FCB4		deleterious(0.02)		14/14		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF73											0,1						MODERATE	1	SNV	5		0,1	1										PASS		.	.												T	3	4	10	120988976	120988976	G	T	1	0	0	0	0	1	0	0	0	6316	1087	38	1		1	GLI2	2	120988976	Missense_Mutation	SNP	G	C3L-00095_TP	5242841	120988976	121204553	132	3513											
GLI2	0	.	GRCh38	chr2	120989047	120989047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggccgtggcggcaggagtgGacggcgcggggcccgaggcc	5	2	22	12	6	0	0	0	0	0	0	0	3	0	2	3	9	0	1	3	9	0	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.3133G>T	p.Asp1045Tyr	p.D1045Y	ENST00000452319	14/14	190	178	12	235	234	1	strelka-varscan	GLI2,missense_variant,p.Asp1045Tyr,ENST00000452319,;GLI2,missense_variant,p.Asp1045Tyr,ENST00000361492,NM_005270.4;GLI2,downstream_gene_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000438299,;GLI2,3_prime_UTR_variant,,ENST00000452692,;GLI2,downstream_gene_variant,,ENST00000437950,;	T	ENST00000452319	Transcript	missense_variant	3193/6799	3133/4761	1045/1586	D/Y	Gac/Tac		1		1	GLI2	HGNC	HGNC:4318	protein_coding	YES	CCDS33283.1	ENSP00000390436	P10070		UPI000053FCB4		deleterious(0)		14/14		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF73																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	120989047	120989047	G	T	1	0	0	0	0	1	0	0	0	6316	1174	41	2		2	GLI2	2	120989047	Missense_Mutation	SNP	G	C3L-00095_TP	71	120989047	121204482	133	3514											
CYP27C1	0	.	GRCh38	chr2	127199539	127199539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttgtcaacatgaatttggCctgtttgaaaacagtatttc	11	16	8	6	0	1	2	1	2	0	0	2	2	1	2	1	1	2	3	1	1	5	5			C3L-00095_TP	C3L-00095_NB	C	C																c.389G>T	p.Ser130Ile	p.S130I	ENST00000335247	4/8	112	104	8	138	138	0	strelka-varscan	CYP27C1,missense_variant,p.Ser130Ile,ENST00000335247,NM_001001665.3;CYP27C1,missense_variant,p.Ser130Ile,ENST00000409327,;	A	ENST00000335247	Transcript	missense_variant,splice_region_variant	520/4401	389/1119	130/372	S/I	aGc/aTc	COSM1202844	1		-1	CYP27C1	HGNC	HGNC:33480	protein_coding	YES	CCDS33285.1	ENSP00000334128	Q4G0S4	A0A024RAI7	UPI00001995F8	NM_001001665.3	deleterious(0)		4/8		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF9,Superfamily_domains:SSF48264											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	10	127199539	127199539	C	A	1	0	0	0	0	1	0	0	0	3963	753	26	2		2	CYP27C1	2	127199539	Missense_Mutation	SNP	C	C3L-00095_TP	6210492	127199539	114993990	134	3515											
IWS1	0	.	GRCh38	chr2	127505570	127505570	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccatgctgattgacatcCtcattttcagaatcgcttgc	8	14	6	13	1	2	3	2	2	0	1	5	3	4	3	2	0	2	2	2	0	1	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.333G>C	p.Glu111Asp	p.E111D	ENST00000295321	3/14	180	163	17	258	258	0	strelka-varscan	IWS1,missense_variant,p.Glu111Asp,ENST00000295321,NM_017969.2;IWS1,missense_variant,p.Glu116Asp,ENST00000409725,;AC010976.2,intron_variant,,ENST00000630740,;AC010976.2,intron_variant,,ENST00000628607,;AC010976.2,intron_variant,,ENST00000629356,;AC010976.2,intron_variant,,ENST00000629464,;AC010976.2,intron_variant,,ENST00000599001,;AC010976.2,intron_variant,,ENST00000625623,;AC010976.2,intron_variant,,ENST00000626901,;AC010976.2,downstream_gene_variant,,ENST00000627205,;IWS1,non_coding_transcript_exon_variant,,ENST00000486662,;IWS1,non_coding_transcript_exon_variant,,ENST00000495369,;IWS1,non_coding_transcript_exon_variant,,ENST00000436740,;IWS1,non_coding_transcript_exon_variant,,ENST00000460511,;IWS1,non_coding_transcript_exon_variant,,ENST00000483889,;IWS1,non_coding_transcript_exon_variant,,ENST00000479083,;IWS1,non_coding_transcript_exon_variant,,ENST00000478949,;IWS1,upstream_gene_variant,,ENST00000497888,;	G	ENST00000295321	Transcript	missense_variant	593/2958	333/2460	111/819	E/D	gaG/gaC		1		-1	IWS1	HGNC	HGNC:25467	protein_coding	YES	CCDS2146.1	ENSP00000295321	Q96ST2		UPI000006EA82	NM_017969.2	tolerated_low_confidence(0.22)		3/14		hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF56																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	127505570	127505570	C	G	1	0	0	0	0	1	0	0	0	7837	680	24	4		4	IWS1	2	127505570	Missense_Mutation	SNP	C	C3L-00095_TP	306031	127505570	114687959	135	3516											
MAP3K19	0	.	GRCh38	chr2	134986143	134986143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatgcactttcttgttttGcttggaaagagaaatttgta	12	16	9	4	0	1	2	0	0	1	2	1	4	1	3	0	1	2	4	0	1	4	7	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2729C>A	p.Ala910Glu	p.A910E	ENST00000392915	10/13	168	156	12	110	110	0	strelka-varscan	MAP3K19,missense_variant,p.Ala910Glu,ENST00000392915,;MAP3K19,missense_variant,p.Ala910Glu,ENST00000375845,NM_025052.4;MAP3K19,missense_variant,p.Ala797Glu,ENST00000358371,NM_001018044.2;MAP3K19,missense_variant,p.Ala815Glu,ENST00000637841,;MAP3K19,missense_variant,p.Ala300Glu,ENST00000437365,;MAP3K19,intron_variant,,ENST00000392917,NM_001282883.1;MAP3K19,intron_variant,,ENST00000375844,NM_001018046.2;MAP3K19,intron_variant,,ENST00000392918,NM_001018047.2;MAP3K19,non_coding_transcript_exon_variant,,ENST00000638025,;MAP3K19,upstream_gene_variant,,ENST00000478805,;	T	ENST00000392915	Transcript	missense_variant	3413/5030	2729/3987	910/1328	A/E	gCa/gAa		1		-1	MAP3K19	HGNC	HGNC:26249	protein_coding	YES	CCDS2176.2	ENSP00000376647		A8MWG7	UPI00004F77F2		tolerated(1)		10/13																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	10	134986143	134986143	G	T	1	0	0	0	0	1	0	0	0	9172	1319	46	2		2	MAP3K19	2	134986143	Missense_Mutation	SNP	G	C3L-00095_TP	7480573	134986143	107207386	136	3517											
THSD7B	0	.	GRCh38	chr2	137242550	137242550	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcagtgagtggacaccCtgcccaaggatgtgccaagc	9	8	12	12	0	1	1	1	1	0	0	1	3	1	3	3	2	3	1	3	2	2	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2244C>A	p.=	p.P748P	ENST00000272643	9/27	208	194	14	239	238	1	strelka-varscan	THSD7B,synonymous_variant,p.=,ENST00000409968,NM_001316349.1;THSD7B,synonymous_variant,p.=,ENST00000272643,;THSD7B,synonymous_variant,p.=,ENST00000413152,NM_001080427.1;	A	ENST00000272643	Transcript	synonymous_variant	2244/5939	2244/4827	748/1608	P	ccC/ccA		1		1	THSD7B	HGNC	HGNC:29348	protein_coding	YES		ENSP00000272643	Q9C0I4		UPI0004E4C87A				9/27		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7,SMART_domains:SM00209,Superfamily_domains:SSF82895																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	10	137242550	137242550	C	A	1	0	0	0	0	0	0	0	1	16314	668	24	2		2	THSD7B	2	137242550	Silent	SNP	C	C3L-00095_TP	2256407	137242550	104950979	137	3518											
GALNT13	0	.	GRCh38	chr2	153944598	153944598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtgaatgtaacaaatGtgatgacaagaaggagagat	17	9	11	4	0	1	5	1	3	0	2	1	7	1	6	0	1	1	1	0	1	5	2	rs145025659		C3L-00095_TP	C3L-00095_NB	G	G																c.101G>T	p.Cys34Phe	p.C34F	ENST00000409237	1/12	163	145	18	188	187	1	strelka-varscan	GALNT13,missense_variant,p.Cys34Phe,ENST00000392825,NM_052917.3;GALNT13,missense_variant,p.Cys34Phe,ENST00000409237,NM_001301627.1;GALNT13,downstream_gene_variant,,ENST00000434213,;	T	ENST00000409237	Transcript	missense_variant	101/2591	101/1686	34/561	C/F	tGt/tTt	rs145025659	1		1	GALNT13	HGNC	HGNC:23242	protein_coding	YES	CCDS77472.1	ENSP00000387239	Q8IUC8		UPI0000E4465D	NM_001301627.1	tolerated(0.16)		1/12		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF47																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	153944598	153944598	G	T	1	0	0	0	0	1	0	0	0	6079	1377	48	2		2	GALNT13	2	153944598	Missense_Mutation	SNP	G	C3L-00095_TP	16702048	153944598	88248931	138	3519											
PSMD14	0	.	GRCh38	chr2	161370139	161370139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggcagttgatccagtgttCcaagctaaaatgttggatat	12	12	11	6	0	0	1	0	1	0	0	2	3	2	2	2	2	1	5	2	2	4	5	rs201192422		C3L-00095_TP	C3L-00095_NB	C	C																c.273C>T	p.=	p.F91F	ENST00000409682	6/12	213	192	21	209	209	0	strelka-varscan	PSMD14,synonymous_variant,p.=,ENST00000409682,NM_005805.5;PSMD14,downstream_gene_variant,,ENST00000437630,;	T	ENST00000409682	Transcript	synonymous_variant	977/1954	273/933	91/310	F	ttC/ttT	rs201192422	1		1	PSMD14	HGNC	HGNC:16889	protein_coding	YES	CCDS46437.1	ENSP00000386541	O00487	A0A140VKF2	UPI0000027819	NM_005805.5			6/12		Superfamily_domains:0048572,Gene3D:3.40.140.10,Pfam_domain:PF01398,hmmpanther:PTHR10410,hmmpanther:PTHR10410:SF5,SMART_domains:SM00232																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	161370139	161370139	C	T	1	0	0	0	0	0	0	0	1	12848	854	30	3		3	PSMD14	2	161370139	Silent	SNP	C	C3L-00095_TP	7425541	161370139	80823390	139	3520											
TBR1	0	.	GRCh38	chr2	161424123	161424123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggccgacacgcccgtgtccGagagttcgtccccgctcaag	6	6	12	17	7	1	1	1	0	0	1	4	3	3	1	5	1	0	2	5	1	1	1	rs753825497		C3L-00095_TP	C3L-00095_NB	G	G																c.1945G>A	p.Glu649Lys	p.E649K	ENST00000389554	6/6	265	243	22	336	336	0	strelka-varscan	TBR1,missense_variant,p.Glu649Lys,ENST00000389554,NM_006593.2;TBR1,missense_variant,p.Glu362Lys,ENST00000410035,;TBR1,downstream_gene_variant,,ENST00000411412,;AC009487.5,non_coding_transcript_exon_variant,,ENST00000505579,;AC009487.4,upstream_gene_variant,,ENST00000444164,;AC009487.4,upstream_gene_variant,,ENST00000437683,;SLC4A10,upstream_gene_variant,,ENST00000605990,;SLC4A10,upstream_gene_variant,,ENST00000482861,;TBR1,downstream_gene_variant,,ENST00000489530,;SLC4A10,upstream_gene_variant,,ENST00000606386,;TBR1,downstream_gene_variant,,ENST00000477804,;TBR1,downstream_gene_variant,,ENST00000463544,;	A	ENST00000389554	Transcript	missense_variant	2262/4009	1945/2049	649/682	E/K	Gag/Aag	rs753825497,COSM5291869	1		1	TBR1	HGNC	HGNC:11590	protein_coding	YES	CCDS33310.1	ENSP00000374205	Q16650		UPI0000136A99	NM_006593.2	deleterious(0.01)		6/6		hmmpanther:PTHR11267:SF88,hmmpanther:PTHR11267,Pfam_domain:PF16176											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	10	161424123	161424123	G	A	1	0	0	0	0	1	0	0	0	16052	1059	37	1		1	TBR1	2	161424123	Missense_Mutation	SNP	G	C3L-00095_TP	53984	161424123	80769406	140	3521											
SCN3A	0	.	GRCh38	chr2	165090980	165090980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgtgtcagggtcacagtCgggtggtgcactattaagaa	11	11	13	6	1	2	1	2	0	0	1	3	1	2	1	0	3	1	1	0	3	4	3	rs746475565		C3L-00095_TP	C3L-00095_NB	C	C																c.5173G>T	p.Asp1725Tyr	p.D1725Y	ENST00000283254	28/28	523	476	47	673	671	2	strelka-varscan	SCN3A,missense_variant,p.Asp1725Tyr,ENST00000360093,;SCN3A,missense_variant,p.Asp1725Tyr,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,missense_variant,p.Asp1676Tyr,ENST00000409101,NM_001081677.1;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000628085,;AC013463.2,intron_variant,,ENST00000431341,;AC013463.2,upstream_gene_variant,,ENST00000625505,;SCN3A,downstream_gene_variant,,ENST00000465043,;SCN3A,downstream_gene_variant,,ENST00000471697,;	A	ENST00000283254	Transcript	missense_variant	5641/9091	5173/6003	1725/2000	D/Y	Gac/Tac	rs746475565	1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1	tolerated(0.42)		28/28		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	165090980	165090980	C	A	1	0	0	0	0	1	0	0	0	14187	884	31	1		1	SCN3A	2	165090980	Missense_Mutation	SNP	C	C3L-00095_TP	3666857	165090980	77102549	141	3522											
SCN3A	0	.	GRCh38	chr2	165095536	165095536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgctggttgaagttaTctatgatgacaccaatgaat	11	16	8	6	0	2	4	0	4	2	0	2	4	2	4	1	1	1	3	1	1	5	5	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.4406A>G	p.Asp1469Gly	p.D1469G	ENST00000283254	25/28	309	286	23	134	134	0	strelka-varscan	SCN3A,missense_variant,p.Asp1469Gly,ENST00000360093,;SCN3A,missense_variant,p.Asp1469Gly,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,missense_variant,p.Asp1420Gly,ENST00000409101,NM_001081677.1;SCN3A,downstream_gene_variant,,ENST00000440431,;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000628085,;AC013463.2,intron_variant,,ENST00000625505,;AC013463.2,downstream_gene_variant,,ENST00000431341,;SCN3A,upstream_gene_variant,,ENST00000465043,;SCN3A,non_coding_transcript_exon_variant,,ENST00000471697,;	C	ENST00000283254	Transcript	missense_variant	4874/9091	4406/6003	1469/2000	D/G	gAt/gGt		1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1	deleterious(0)		25/28		Gene3D:1byyA00,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	165095536	165095536	T	C	1	0	0	0	0	1	0	0	0	14187	1435	50	5		5	SCN3A	2	165095536	Missense_Mutation	SNP	T	C3L-00095_TP	4556	165095536	77097993	142	3523											
SCN1A	0	.	GRCh38	chr2	165998175	165998175	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atacttaggctggagttccaCctaccaaaggggaatatttt	12	12	9	8	0	0	0	0	0	0	0	1	2	1	2	3	4	2	2	3	4	6	7	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.4339G>C	p.Val1447Leu	p.V1447L	ENST00000303395	25/28	183	173	10	136	136	0	strelka-varscan	SCN1A,missense_variant,p.Val1436Leu,ENST00000635776,;SCN1A,missense_variant,p.Val1436Leu,ENST00000637988,;SCN1A,missense_variant,p.Val1447Leu,ENST00000303395,NM_001202435.1,NM_001165963.1;SCN1A,missense_variant,p.Val1436Leu,ENST00000635750,;SCN1A,missense_variant,p.Val1447Leu,ENST00000423058,;SCN1A,missense_variant,p.Val1436Leu,ENST00000375405,NM_006920.4;SCN1A,missense_variant,p.Val1419Leu,ENST00000409050,NM_001165964.1;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000628933,;AC010127.3,intron_variant,,ENST00000597623,;AC010127.3,intron_variant,,ENST00000630226,;SCN1A,splice_region_variant,,ENST00000636194,;SCN1A,splice_region_variant,,ENST00000637038,;SCN1A,splice_region_variant,,ENST00000473295,;SCN1A,splice_region_variant,,ENST00000491429,;SCN1A,splice_region_variant,,ENST00000635893,;SCN1A,upstream_gene_variant,,ENST00000625916,;	G	ENST00000303395	Transcript	missense_variant,splice_region_variant	4757/8533	4339/6030	1447/2009	V/L	Gtg/Ctg		1		-1	SCN1A	HGNC	HGNC:10585	protein_coding	YES	CCDS54413.1	ENSP00000303540	P35498		UPI000003C71D	NM_001202435.1,NM_001165963.1	tolerated(0.11)		25/28		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF220,Superfamily_domains:SSF81324																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	10	165998175	165998175	C	G	1	0	0	0	0	1	0	0	0	14183	521	18	4		4	SCN1A	2	165998175	Missense_Mutation	SNP	C	C3L-00095_TP	902639	165998175	76195354	143	3524											
XIRP2	0	.	GRCh38	chr2	167244372	167244372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgtatgccattcaagatCcccttggaaaatatcatcaa	14	11	5	11	0	3	1	3	0	0	1	4	2	4	2	3	1	1	1	3	1	6	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2980C>A	p.Pro994Thr	p.P994T	ENST00000409195	9/11	92	82	10	96	95	1	strelka-varscan	XIRP2,missense_variant,p.Pro994Thr,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Pro772Thr,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Pro819Thr,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	A	ENST00000409195	Transcript	missense_variant	3069/12675	2980/10650	994/3549	P/T	Ccc/Acc		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	tolerated(0.34)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	167244372	167244372	C	A	1	0	0	0	0	1	0	0	0	17989	855	30	2		2	XIRP2	2	167244372	Missense_Mutation	SNP	C	C3L-00095_TP	1246197	167244372	74949157	144	3525											
XIRP2	0	.	GRCh38	chr2	167251464	167251464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atagaagagtttatgcaaagGgagaaacaaaccataacata	21	7	8	5	0	0	3	0	0	0	3	0	4	0	3	1	1	4	2	1	1	8	5			C3L-00095_TP	C3L-00095_NB	G	G																c.10072G>A	p.Gly3358Arg	p.G3358R	ENST00000409195	9/11	199	189	10	193	193	0	strelka-varscan	XIRP2,missense_variant,p.Gly3358Arg,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Gly3136Arg,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Gly3183Arg,ENST00000628543,;XIRP2,missense_variant,p.Gly772Arg,ENST00000295237,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	A	ENST00000409195	Transcript	missense_variant	10161/12675	10072/10650	3358/3549	G/R	Gga/Aga	COSM3569547	1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious(0)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	10	167251464	167251464	G	A	1	0	0	0	0	1	0	0	0	17989	1233	43	3		3	XIRP2	2	167251464	Missense_Mutation	SNP	G	C3L-00095_TP	7092	167251464	74942065	145	3526											
LRP2	0	.	GRCh38	chr2	169273017	169273017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attatctgttctgtggctgaGgacacagacctgctcacagc	9	11	10	11	0	3	2	1	1	2	1	3	3	3	3	1	2	2	3	1	2	1	2	rs764130643		C3L-00095_TP	C3L-00095_NB	G	G																c.2026C>T	p.Leu676Phe	p.L676F	ENST00000263816	15/79	468	441	27	568	567	1	strelka-varscan	LRP2,missense_variant,p.Leu676Phe,ENST00000263816,NM_004525.2;LRP2,missense_variant,p.Leu607Phe,ENST00000443831,;LRP2,non_coding_transcript_exon_variant,,ENST00000493501,;	A	ENST00000263816	Transcript	missense_variant	2312/15808	2026/13968	676/4655	L/F	Ctc/Ttc	rs764130643	1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2	deleterious(0)		15/79		Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	169273017	169273017	G	A	1	0	0	0	0	1	0	0	0	8851	1000	35	3		3	LRP2	2	169273017	Missense_Mutation	SNP	G	C3L-00095_TP	2021553	169273017	72920512	146	3527											
HOXD11	0	.	GRCh38	chr2	176109055	176109055	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctcactgaccggcaagtCaaaatctggttccagaatcg	13	8	8	12	2	3	2	2	1	1	1	5	2	4	2	3	2	1	2	3	2	5	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.930C>G	p.=	p.V310V	ENST00000249504	2/2	394	363	31	483	483	0	strelka-varscan-mutect	HOXD11,synonymous_variant,p.=,ENST00000249504,NM_021192.2;HOXD11,synonymous_variant,p.=,ENST00000619244,;HOXD11,non_coding_transcript_exon_variant,,ENST00000498438,;HOXD10,non_coding_transcript_exon_variant,,ENST00000490088,;HOXD10,non_coding_transcript_exon_variant,,ENST00000549469,;	G	ENST00000249504	Transcript	synonymous_variant	1000/1533	930/1017	310/338	V	gtC/gtG		1		1	HOXD11	HGNC	HGNC:5134	protein_coding	YES	CCDS2265.1	ENSP00000249504	P31277		UPI000013CC88	NM_021192.2			2/2		PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF125,PROSITE_patterns:PS00027,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024																	LOW	1	SNV	3			1										PASS		.	.												G	2	3	10	176109055	176109055	C	G	1	0	0	0	0	0	0	0	1	7214	813	29	4		4	HOXD11	2	176109055	Silent	SNP	C	C3L-00095_TP	6836038	176109055	66084474	147	3528											
TTN	0	.	GRCh38	chr2	178595551	178595551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctgatgtctcaacaaatGgacccatgccaatactattt	12	12	5	12	0	2	1	1	1	2	0	3	2	2	2	3	1	3	0	3	1	5	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.57803C>T	p.Pro19268Leu	p.P19268L	ENST00000589042	295/363	526	484	42	593	592	1	strelka-varscan-mutect	TTN,missense_variant,p.Pro19268Leu,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Pro17627Leu,ENST00000591111,;TTN,missense_variant,p.Pro17627Leu,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Pro16700Leu,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Pro10203Leu,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Pro10395Leu,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Pro10328Leu,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000629117,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000610290,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000626517,;TTN-AS1,downstream_gene_variant,,ENST00000590743,;TTN-AS1,upstream_gene_variant,,ENST00000589830,;	A	ENST00000589042	Transcript	missense_variant	58028/109224	57803/107976	19268/35991	P/L	cCa/cTa		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			295/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	10	178595551	178595551	G	A	1	0	0	0	0	1	0	0	0	17245	1348	47	3		3	TTN	2	178595551	Missense_Mutation	SNP	G	C3L-00095_TP	2486496	178595551	63597978	148	3529											
TTN	0	.	GRCh38	chr2	178723059	178723059	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacacctaatgtagatacCagagctccacaaacatccct	16	7	4	14	0	0	2	0	0	0	2	2	2	2	2	4	0	4	2	4	0	5	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.21948G>T	p.=	p.L7316L	ENST00000589042	75/363	98	93	5	134	134	0	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,;	A	ENST00000589042	Transcript	synonymous_variant	22173/109224	21948/107976	7316/35991	L	ctG/ctT		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			75/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	10	178723059	178723059	C	A	1	0	0	0	0	0	0	0	1	17245	581	21	2		2	TTN	2	178723059	Silent	SNP	C	C3L-00095_TP	127508	178723059	63470470	149	3530											
ITGA4	0	.	GRCh38	chr2	181498638	181498638	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttttgttttataacaTgagtttggatgtgaacagaa	12	16	10	3	0	0	3	0	2	0	1	0	4	0	4	0	1	3	4	0	1	4	6	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.1556T>A	p.Met519Lys	p.M519K	ENST00000397033	15/28	90	82	8	78	78	0	strelka-varscan-mutect	ITGA4,missense_variant,p.Met519Lys,ENST00000397033,NM_000885.4;ITGA4,missense_variant,p.Met519Lys,ENST00000233573,;ITGA4,non_coding_transcript_exon_variant,,ENST00000476824,;ITGA4,non_coding_transcript_exon_variant,,ENST00000490435,;ITGA4,downstream_gene_variant,,ENST00000473002,;	A	ENST00000397033	Transcript	missense_variant	1986/4189	1556/3099	519/1032	M/K	aTg/aAg		1		1	ITGA4	HGNC	HGNC:6140	protein_coding	YES	CCDS42788.1	ENSP00000380227	P13612		UPI000052D444	NM_000885.4	deleterious(0)		15/28		hmmpanther:PTHR23220:SF78,hmmpanther:PTHR23220,Pfam_domain:PF08441,Gene3D:1jv2A02,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	181498638	181498638	T	A	1	0	0	0	0	1	0	0	0	7785	1464	51	4		4	ITGA4	2	181498638	Missense_Mutation	SNP	T	C3L-00095_TP	2775579	181498638	60694891	150	3531											
FSIP2	0	.	GRCh38	chr2	185790769	185790769	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacactgaacacatagtCaaagaagcaccaaataaata	20	7	5	9	0	2	3	1	2	1	1	2	3	2	3	1	0	2	1	1	0	8	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.3900C>A	p.=	p.V1300V	ENST00000343098	16/23	80	69	11	51	51	0	strelka-varscan-mutect	FSIP2,synonymous_variant,p.=,ENST00000343098,NM_173651.2;FSIP2,synonymous_variant,p.=,ENST00000424728,;FSIP2-AS1,intron_variant,,ENST00000436557,;FSIP2-AS1,intron_variant,,ENST00000429929,;FSIP2,upstream_gene_variant,,ENST00000415915,;	A	ENST00000343098	Transcript	synonymous_variant	3900/21054	3900/20991	1300/6996	V	gtC/gtA		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2			16/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	LOW		SNV	5			1										PASS		rs1301225195	.												A	2	1	10	185790769	185790769	C	A	1	0	0	0	0	0	0	0	1	5949	813	29	2		2	FSIP2	2	185790769	Silent	SNP	C	C3L-00095_TP	4292131	185790769	56402760	151	3532											
FSIP2	0	.	GRCh38	chr2	185795570	185795570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atataggcacaggatcccttCctaaacaacaagcatgtttt	14	11	6	10	0	0	0	0	0	0	0	2	1	2	1	2	2	3	3	2	2	6	6	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.8701C>A	p.Pro2901Thr	p.P2901T	ENST00000343098	16/23	143	133	10	126	126	0	strelka-varscan-mutect	FSIP2,missense_variant,p.Pro2901Thr,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Pro2812Thr,ENST00000424728,;FSIP2-AS1,intron_variant,,ENST00000436557,;FSIP2-AS1,intron_variant,,ENST00000429929,;FSIP2,missense_variant,p.Pro319Thr,ENST00000415915,;	A	ENST00000343098	Transcript	missense_variant	8701/21054	8701/20991	2901/6996	P/T	Cct/Act		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	tolerated(0.19)		16/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	10	185795570	185795570	C	A	1	0	0	0	0	1	0	0	0	5949	855	30	2		2	FSIP2	2	185795570	Missense_Mutation	SNP	C	C3L-00095_TP	4801	185795570	56397959	152	3533											
COL3A1	0	.	GRCh38	chr2	189010690	189010690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgaagatgtccttgatGtgcatctggcattccttcga	7	15	9	10	1	1	3	0	2	1	1	5	4	4	3	3	1	1	2	3	1	1	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.4054G>A	p.Val1352Met	p.V1352M	ENST00000304636	50/51	282	264	18	326	326	0	strelka-varscan-mutect	COL3A1,missense_variant,p.Val1352Met,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Val1049Met,ENST00000317840,;COL3A1,non_coding_transcript_exon_variant,,ENST00000487010,;	A	ENST00000304636	Transcript	missense_variant	4224/5543	4054/4401	1352/1466	V/M	Gtg/Atg		1		1	COL3A1	HGNC	HGNC:2201	protein_coding	YES	CCDS2297.1	ENSP00000304408	P02461		UPI0000456EBA	NM_000090.3	deleterious(0.01)		50/51		PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604,Pfam_domain:PF01410,SMART_domains:SM00038																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	189010690	189010690	G	A	1	0	0	0	0	1	0	0	0	3477	1377	48	3		3	COL3A1	2	189010690	Missense_Mutation	SNP	G	C3L-00095_TP	3215120	189010690	53182839	153	3534											
RFTN2	0	.	GRCh38	chr2	197646585	197646585	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgaatagccccgacaataTatcctttaagataatagttt	15	13	6	7	1	0	2	0	1	0	1	1	4	1	2	3	0	1	1	3	0	8	8	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.221A>G	p.Tyr74Cys	p.Y74C	ENST00000295049	2/9	226	214	12	246	246	0	strelka-varscan-mutect	RFTN2,missense_variant,p.Tyr74Cys,ENST00000295049,NM_144629.2;RFTN2,missense_variant,p.Tyr74Cys,ENST00000429081,;	C	ENST00000295049	Transcript	missense_variant	758/5827	221/1506	74/501	Y/C	tAt/tGt		1		-1	RFTN2	HGNC	HGNC:26402	protein_coding	YES	CCDS2323.1	ENSP00000295049	Q52LD8		UPI000013E1F9	NM_144629.2	deleterious(0)		2/9		hmmpanther:PTHR17601,hmmpanther:PTHR17601:SF1,Pfam_domain:PF15250																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	197646585	197646585	T	C	1	0	0	0	0	1	0	0	0	13433	1406	49	5		5	RFTN2	2	197646585	Missense_Mutation	SNP	T	C3L-00095_TP	8635895	197646585	44546944	154	3535											
PLCL1	0	.	GRCh38	chr2	198085364	198085364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaaatgtgttcatttaGtgaaacagaggccagccgca	12	10	12	7	1	1	2	1	1	0	1	1	3	1	3	2	2	2	2	2	2	3	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1847G>T	p.Ser616Ile	p.S616I	ENST00000428675	2/6	170	142	28	149	149	0	strelka-varscan-mutect	PLCL1,missense_variant,p.Ser539Ile,ENST00000437704,;PLCL1,missense_variant,p.Ser616Ile,ENST00000428675,NM_006226.3;PLCL1,missense_variant,p.Ser542Ile,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	T	ENST00000428675	Transcript	missense_variant	2245/5125	1847/3288	616/1095	S/I	aGt/aTt		1		1	PLCL1	HGNC	HGNC:9063	protein_coding	YES	CCDS2326.2	ENSP00000402861	Q15111		UPI000165BCF5	NM_006226.3	deleterious(0.01)		2/6		PROSITE_profiles:PS50008,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF102,Pfam_domain:PF00387,Gene3D:3.20.20.190,SMART_domains:SM00149,Superfamily_domains:SSF51695																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	198085364	198085364	G	T	1	0	0	0	0	1	0	0	0	12133	1029	36	2		2	PLCL1	2	198085364	Missense_Mutation	SNP	G	C3L-00095_TP	438779	198085364	44108165	155	3536											
TMEM237	0	.	GRCh38	chr2	201632134	201632134	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctgttccacagtagttTgctcatcagtgattatgtct	8	16	8	9	0	3	1	2	1	1	0	4	1	4	1	1	0	2	5	1	0	2	4	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.470A>T	p.Gln157Leu	p.Q157L	ENST00000409883	7/13	261	239	22	245	245	0	strelka-varscan-mutect	TMEM237,missense_variant,p.Gln149Leu,ENST00000409444,NM_152388.3;TMEM237,missense_variant,p.Gln157Leu,ENST00000409883,NM_001044385.2;TMEM237,missense_variant,p.Gln149Leu,ENST00000621467,;TMEM237,non_coding_transcript_exon_variant,,ENST00000466641,;TMEM237,upstream_gene_variant,,ENST00000466839,;TMEM237,upstream_gene_variant,,ENST00000471318,;TMEM237,downstream_gene_variant,,ENST00000489550,;TMEM237,3_prime_UTR_variant,,ENST00000286196,;TMEM237,3_prime_UTR_variant,,ENST00000432684,;TMEM237,3_prime_UTR_variant,,ENST00000444047,;TMEM237,downstream_gene_variant,,ENST00000480124,;	A	ENST00000409883	Transcript	missense_variant	587/5415	470/1227	157/408	Q/L	cAa/cTa		1		-1	TMEM237	HGNC	HGNC:14432	protein_coding	YES	CCDS46489.1	ENSP00000386264	Q96Q45		UPI0000DD5A47	NM_001044385.2	tolerated(0.15)		7/13		hmmpanther:PTHR28388,hmmpanther:PTHR28388:SF1,Pfam_domain:PF15383																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	201632134	201632134	T	A	1	0	0	0	0	1	0	0	0	16598	1812	63	4		4	TMEM237	2	201632134	Missense_Mutation	SNP	T	C3L-00095_TP	3546770	201632134	40561395	156	3537											
ZDBF2	0	.	GRCh38	chr2	206306386	206306386	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacataagaagcgtaaacccAgtagtgctaaagcacatctt	17	8	7	9	1	1	1	0	0	1	1	1	1	1	1	1	0	5	4	1	0	8	5	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.1858A>T	p.Ser620Cys	p.S620C	ENST00000374423	5/5	211	199	12	235	234	1	strelka-varscan-mutect	ZDBF2,missense_variant,p.Ser620Cys,ENST00000374423,NM_020923.2;ZDBF2,missense_variant,p.Ser618Cys,ENST00000611847,NM_001285549.1;	T	ENST00000374423	Transcript	missense_variant	2244/10286	1858/7065	620/2354	S/C	Agt/Tgt		1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2	deleterious(0.02)		5/5		hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	MODERATE	1	SNV	1			1										PASS		rs1261857986	.												T	3	4	10	206306386	206306386	A	T	1	0	0	0	0	1	0	0	0	18174	188	7	4		4	ZDBF2	2	206306386	Missense_Mutation	SNP	A	C3L-00095_TP	4674252	206306386	35887143	157	3538			1	5		5	5	3774	N	T_G_A_-	4.018425e-06
ZDBF2	0	.	GRCh38	chr2	206306478	206306478	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagataaatcttctgaaGgagaagaatgctgaccttat	17	10	9	5	0	2	5	0	2	2	3	2	7	2	5	1	1	1	1	1	1	8	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1950G>A	p.=	p.K650K	ENST00000374423	5/5	258	233	25	311	311	0	strelka-varscan-mutect	ZDBF2,synonymous_variant,p.=,ENST00000374423,NM_020923.2;ZDBF2,synonymous_variant,p.=,ENST00000611847,NM_001285549.1;	A	ENST00000374423	Transcript	synonymous_variant	2336/10286	1950/7065	650/2354	K	aaG/aaA		1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2			5/5		hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	206306478	206306478	G	A	1	0	0	0	0	0	0	0	1	18174	991	35	3		3	ZDBF2	2	206306478	Silent	SNP	G	C3L-00095_TP	92	206306478	35887051	158	3539			1	5		5	5	3774	N	T_G_A_-	4.018425e-06
ZDBF2	0	.	GRCh38	chr2	206306688	206306688	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttatcattcagctcatgaTgagcctcaagaagctttgga	11	13	8	9	0	4	3	4	2	0	1	4	4	4	4	1	1	3	2	1	1	3	4	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.2160T>C	p.=	p.D720D	ENST00000374423	5/5	266	249	17	326	326	0	strelka-varscan-mutect	ZDBF2,synonymous_variant,p.=,ENST00000374423,NM_020923.2;ZDBF2,synonymous_variant,p.=,ENST00000611847,NM_001285549.1;	C	ENST00000374423	Transcript	synonymous_variant	2546/10286	2160/7065	720/2354	D	gaT/gaC		1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2			5/5		hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	10	206306688	206306688	T	C	1	0	0	0	0	0	0	0	1	18174	1461	51	5		5	ZDBF2	2	206306688	Silent	SNP	T	C3L-00095_TP	210	206306688	35886841	159	3540			1	5		5	5	3774	N	T_G_A_-	4.018425e-06
ZDBF2	0	.	GRCh38	chr2	206309143	206309143	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgatagtgattatgaaGtaatttcagatgatattccc	12	14	9	6	1	1	5	1	4	0	1	2	5	2	5	2	1	0	1	2	1	5	6	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.4615G>C	p.Val1539Leu	p.V1539L	ENST00000374423	5/5	281	260	21	255	255	0	strelka-varscan-mutect	ZDBF2,missense_variant,p.Val1539Leu,ENST00000374423,NM_020923.2;ZDBF2,missense_variant,p.Val1537Leu,ENST00000611847,NM_001285549.1;	C	ENST00000374423	Transcript	missense_variant	5001/10286	4615/7065	1539/2354	V/L	Gta/Cta		1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2	tolerated(0.05)		5/5		hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	206309143	206309143	G	C	1	0	0	0	0	1	0	0	0	18174	1029	36	4		4	ZDBF2	2	206309143	Missense_Mutation	SNP	G	C3L-00095_TP	2455	206309143	35884386	160	3541			1	5		5	5	3774	N	T_G_A_-	4.018425e-06
ZDBF2	0	.	GRCh38	chr2	206310159	206310160	+	Frame_Shift_Ins	INS	-	-	T																															aggggaaaaaaaaggttaccINStgggctgacttgcaaggtaa																								novel		C3L-00095_TP	C3L-00095_NB	-	-																c.5632dupT	p.Trp1878LeufsTer3	p.W1878Lfs*3	ENST00000374423	5/5	125	104	21	181	181	0	sindel-varindel-pindel	ZDBF2,frameshift_variant,p.Trp1878LeufsTer3,ENST00000374423,NM_020923.2;ZDBF2,frameshift_variant,p.Trp1876LeufsTer3,ENST00000611847,NM_001285549.1;	T	ENST00000374423	Transcript	frameshift_variant	6017-6018/10286	5631-5632/7065	1877-1878/2354	-/X	-/T		1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2			5/5		hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	HIGH	1	insertion	1	1		1										PASS		.	.												T	7	5	10	206310159	206310159	-	T	1	0	1	1	0	0	0	0	0	18174	668	24	0		0	ZDBF2	2	206310159	Frame_Shift_Ins	INS	-	C3L-00095_TP	1016	206310159	35883370	161	3542			1	5		5	5	3774	N	T_G_A_-	4.018425e-06
PTH2R	0	.	GRCh38	chr2	208489103	208489103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcactccttcactgggctcGggtgggagatccgcatgcac	6	9	12	14	2	2	1	2	0	0	1	5	2	4	1	2	3	1	3	2	3	0	1	rs776936901		C3L-00095_TP	C3L-00095_NB	G	G																c.1168G>T	p.Gly390Trp	p.G390W	ENST00000272847	11/13	220	202	18	265	265	0	strelka-varscan-mutect	PTH2R,missense_variant,p.Gly390Trp,ENST00000272847,NM_005048.3;PTH2R,missense_variant,p.Gly279Trp,ENST00000617735,;AC019185.4,intron_variant,,ENST00000424628,;PTH2R,missense_variant,p.Gly7Trp,ENST00000419079,;	T	ENST00000272847	Transcript	missense_variant	1381/2713	1168/1653	390/550	G/W	Ggg/Tgg	rs776936901	1		1	PTH2R	HGNC	HGNC:9609	protein_coding	YES	CCDS2383.1	ENSP00000272847	P49190		UPI000005041E	NM_005048.3	deleterious(0.04)		11/13		Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF69,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		rs776936901	.												T	3	4	10	208489103	208489103	G	T	1	0	0	0	0	1	0	0	0	12916	1116	39	1		1	PTH2R	2	208489103	Missense_Mutation	SNP	G	C3L-00095_TP	2178944	208489103	33704426	162	3543											
MAP2	0	.	GRCh38	chr2	209694194	209694194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagaaaagggacctccacaGtaagaataaggatgatttga	18	7	11	5	0	0	4	0	2	0	2	1	7	1	6	2	2	0	1	2	2	5	3	rs766835859		C3L-00095_TP	C3L-00095_NB	G	G																c.2024G>T	p.Ser675Ile	p.S675I	ENST00000360351	7/15	114	104	10	128	127	1	strelka-varscan-mutect	MAP2,missense_variant,p.Ser675Ile,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Ser671Ile,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,NM_031845.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;	T	ENST00000360351	Transcript	missense_variant	2530/9711	2024/5484	675/1827	S/I	aGt/aTt	rs766835859,COSM573062	1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3	deleterious_low_confidence(0)		7/15		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15,Pfam_domain:PF08377											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs766835859	.												T	3	4	10	209694194	209694194	G	T	1	0	0	0	0	1	0	0	0	9157	1029	36	2		2	MAP2	2	209694194	Missense_Mutation	SNP	G	C3L-00095_TP	1205091	209694194	32499335	163	3544											
UNC80	0	.	GRCh38	chr2	209921566	209921566	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacacatcttaaagaacttgCagcaggaggaagaaaagaaa	21	5	9	6	0	1	3	0	0	1	3	1	5	1	5	0	2	4	2	0	2	8	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.5212C>T	p.Gln1738Ter	p.Q1738*	ENST00000439458	33/64	208	188	20	249	249	0	strelka-varscan-mutect	UNC80,stop_gained,p.Gln1738Ter,ENST00000439458,NM_032504.1;UNC80,stop_gained,p.Gln1733Ter,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	T	ENST00000439458	Transcript	stop_gained	5292/13562	5212/9777	1738/3258	Q/*	Cag/Tag		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1			33/64		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	10	209921566	209921566	C	T	1	0	0	0	0	0	1	0	0	17521	711	25	3		3	UNC80	2	209921566	Nonsense_Mutation	SNP	C	C3L-00095_TP	227372	209921566	32271963	164	3545											
CATIP	0	.	GRCh38	chr2	218360640	218360640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatcagctggctgtgaccaGaagtatcaaggagggtgagg	11	8	16	6	0	2	4	2	3	0	1	2	5	2	5	1	4	1	3	1	4	3	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.443G>C	p.Arg148Thr	p.R148T	ENST00000289388	5/10	173	146	27	177	177	0	strelka-varscan-mutect	CATIP,missense_variant,p.Arg148Thr,ENST00000289388,NM_198559.1;CATIP-AS2,upstream_gene_variant,,ENST00000411433,;CATIP,non_coding_transcript_exon_variant,,ENST00000481940,;CATIP,upstream_gene_variant,,ENST00000494447,;CATIP,downstream_gene_variant,,ENST00000480532,;CATIP,downstream_gene_variant,,ENST00000495773,;	C	ENST00000289388	Transcript	missense_variant	472/1323	443/1164	148/387	R/T	aGa/aCa		1		1	CATIP	HGNC	HGNC:25062	protein_coding	YES	CCDS2414.1	ENSP00000289388	Q7Z7H3		UPI000019B2D3	NM_198559.1	deleterious(0.02)		5/10		hmmpanther:PTHR15505,hmmpanther:PTHR15505:SF3																	MODERATE	1	SNV	1			1										PASS		rs1277844073	.												C	3	2	10	218360640	218360640	G	C	1	0	0	0	0	1	0	0	0	2386	942	33	4		4	CATIP	2	218360640	Missense_Mutation	SNP	G	C3L-00095_TP	8439074	218360640	23832889	165	3546											
STK36	0	.	GRCh38	chr2	218680663	218680663	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagaggccagaggtgctGggccagcggagcactgatgt	9	5	19	8	1	0	3	0	1	0	2	0	6	0	4	2	5	3	2	2	5	0	0	rs752332276		C3L-00095_TP	C3L-00095_NB	G	G																c.1197G>T	p.=	p.L399L	ENST00000295709	10/27	257	243	14	270	270	0	strelka-varscan-mutect	STK36,synonymous_variant,p.=,ENST00000295709,NM_015690.4;STK36,synonymous_variant,p.=,ENST00000392105,NM_001243313.1;STK36,synonymous_variant,p.=,ENST00000440309,;STK36,downstream_gene_variant,,ENST00000424080,;STK36,synonymous_variant,p.=,ENST00000414413,;STK36,upstream_gene_variant,,ENST00000422778,;STK36,upstream_gene_variant,,ENST00000470568,;	T	ENST00000295709	Transcript	synonymous_variant	1476/4933	1197/3948	399/1315	L	ctG/ctT	rs752332276	1		1	STK36	HGNC	HGNC:17209	protein_coding	YES	CCDS2421.1	ENSP00000295709	Q9NRP7	A0A140VJW1	UPI00000342FC	NM_015690.4			10/27		hmmpanther:PTHR22983,hmmpanther:PTHR22983:SF17,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		rs752332276	.												T	2	4	10	218680663	218680663	G	T	1	0	0	0	0	0	0	0	1	15679	1335	47	2		2	STK36	2	218680663	Silent	SNP	G	C3L-00095_TP	320023	218680663	23512866	166	3547											
SPHKAP	0	.	GRCh38	chr2	228019512	228019512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgaacaacgacgattttggGgagctcattccatgaccgag	11	9	11	10	3	1	2	1	2	0	0	2	6	2	3	2	2	3	1	2	2	2	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1342C>A	p.Pro448Thr	p.P448T	ENST00000392056	7/12	281	247	34	343	342	1	strelka-varscan-mutect	SPHKAP,missense_variant,p.Pro448Thr,ENST00000392056,NM_001142644.1;SPHKAP,missense_variant,p.Pro448Thr,ENST00000344657,NM_030623.3;	T	ENST00000392056	Transcript	missense_variant	1389/6917	1342/5103	448/1700	P/T	Ccc/Acc		1		-1	SPHKAP	HGNC	HGNC:30619	protein_coding	YES	CCDS46537.1	ENSP00000375909	Q2M3C7		UPI0000411D7E	NM_001142644.1	deleterious(0)		7/12		hmmpanther:PTHR10226:SF7,hmmpanther:PTHR10226																	MODERATE	1	SNV	1			1										PASS		rs1351682940	.												T	3	4	10	228019512	228019512	G	T	1	0	0	0	0	1	0	0	0	15399	1232	43	2		2	SPHKAP	2	228019512	Missense_Mutation	SNP	G	C3L-00095_TP	9338849	228019512	14174017	167	3548											
TRPM8	0	.	GRCh38	chr2	233955193	233955193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgaagcttctgctggaGtggaaccagctggacttagc	9	9	13	10	0	1	1	0	1	1	0	1	4	1	4	1	3	6	4	1	3	3	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1305G>A	p.=	p.E435E	ENST00000324695	11/26	192	182	10	173	173	0	strelka-varscan-mutect	TRPM8,synonymous_variant,p.=,ENST00000324695,NM_024080.4;TRPM8,synonymous_variant,p.=,ENST00000433712,;AC005538.5,non_coding_transcript_exon_variant,,ENST00000455991,;TRPM8,3_prime_UTR_variant,,ENST00000444298,;TRPM8,non_coding_transcript_exon_variant,,ENST00000487033,;	A	ENST00000324695	Transcript	synonymous_variant	1345/5621	1305/3315	435/1104	E	gaG/gaA		1		1	TRPM8	HGNC	HGNC:17961	protein_coding	YES	CCDS33407.1	ENSP00000323926	Q7Z2W7	W8DTH1	UPI0000456F32	NM_024080.4			11/26		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF9																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	233955193	233955193	G	A	1	0	0	0	0	0	0	0	1	17098	1020	36	3		3	TRPM8	2	233955193	Silent	SNP	G	C3L-00095_TP	5935681	233955193	8238336	168	3549											
COL6A3	0	.	GRCh38	chr2	237333507	237333507	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagattgatggttgaactagAagctgaccttgctggctgtg	9	13	13	6	0	0	5	0	3	0	2	0	5	0	5	1	2	3	4	1	2	4	5	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.9271T>C	p.Ser3091Pro	p.S3091P	ENST00000295550	42/44	466	437	29	535	535	0	strelka-varscan-mutect	COL6A3,missense_variant,p.Ser3091Pro,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Ser2885Pro,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Ser2885Pro,ENST00000409809,;COL6A3,missense_variant,p.Ser2484Pro,ENST00000472056,NM_057166.4;COL6A3,missense_variant,p.Ser2483Pro,ENST00000347401,;COL6A3,non_coding_transcript_exon_variant,,ENST00000493608,;COL6A3,upstream_gene_variant,,ENST00000473258,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;	G	ENST00000295550	Transcript	missense_variant	9724/10749	9271/9534	3091/3177	S/P	Tct/Cct		1		-1	COL6A3	HGNC	HGNC:2213	protein_coding	YES	CCDS33412.1	ENSP00000295550	P12111	D9ZGF2	UPI0000456F39	NM_004369.3	tolerated(0.06)		42/44		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	237333507	237333507	A	G	1	0	0	0	0	1	0	0	0	3490	246	9	5		5	COL6A3	2	237333507	Missense_Mutation	SNP	A	C3L-00095_TP	3378314	237333507	4860022	169	3550											
NDUFA10	0	.	GRCh38	chr2	240021361	240021361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcgaggggcttcccatctCctgtggtactgtctggataa	6	12	13	10	1	2	0	0	0	2	0	4	2	3	1	2	5	1	2	2	5	2	3	rs771444488		C3L-00095_TP	C3L-00095_NB	C	C																c.296G>T	p.Gly99Val	p.G99V	ENST00000252711	3/10	343	318	25	498	497	1	strelka-varscan-mutect	NDUFA10,missense_variant,p.Gly99Val,ENST00000252711,NM_004544.3;NDUFA10,missense_variant,p.Gly99Val,ENST00000404554,;NDUFA10,missense_variant,p.Gly99Val,ENST00000620965,;NDUFA10,missense_variant,p.Gly99Val,ENST00000307300,;NDUFA10,missense_variant,p.Gly99Val,ENST00000443626,;NDUFA10,missense_variant,p.Gly99Val,ENST00000407129,;NDUFA10,stop_gained,p.Glu43Ter,ENST00000414580,;NDUFA10,non_coding_transcript_exon_variant,,ENST00000485344,;NDUFA10,non_coding_transcript_exon_variant,,ENST00000497536,;	A	ENST00000252711	Transcript	missense_variant	397/4915	296/1068	99/355	G/V	gGa/gTa	rs771444488,CM120094	1		-1	NDUFA10	HGNC	HGNC:7684	protein_coding	YES	CCDS2531.1	ENSP00000252711	O95299	A0A024R4B3	UPI000013090A	NM_004544.3	deleterious(0)		3/10		hmmpanther:PTHR10513:SF15,hmmpanther:PTHR10513,Gene3D:3.40.50.300,PIRSF_domain:PIRSF000543,Pfam_domain:PF01712,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1		0,1	1										PASS		rs771444488	.												A	3	1	10	240021361	240021361	C	A	1	0	0	0	0	1	0	0	0	10281	855	30	2		2	NDUFA10	2	240021361	Missense_Mutation	SNP	C	C3L-00095_TP	2687854	240021361	2172168	170	3551											
ANKMY1	0	.	GRCh38	chr2	240529482	240529482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggtctcgacacctggccCaaaccgctggtccgctttgt	6	10	11	14	3	1	0	0	0	1	0	3	1	2	0	4	3	1	3	4	3	2	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.508G>T	p.Gly170Trp	p.G170W	ENST00000401804	5/18	96	90	6	130	130	0	strelka-varscan-mutect	ANKMY1,missense_variant,p.Gly170Trp,ENST00000401804,NM_001282771.1;ANKMY1,missense_variant,p.Gly81Trp,ENST00000272972,NM_016552.3;ANKMY1,missense_variant,p.Gly81Trp,ENST00000391987,;ANKMY1,missense_variant,p.Gly81Trp,ENST00000418708,;ANKMY1,missense_variant,p.Gly26Trp,ENST00000443318,;ANKMY1,intron_variant,,ENST00000405002,;ANKMY1,intron_variant,,ENST00000403283,NM_001308375.1;ANKMY1,intron_variant,,ENST00000361678,NM_017844.3;ANKMY1,intron_variant,,ENST00000373318,NM_001282780.1;ANKMY1,intron_variant,,ENST00000406958,NM_001282781.1;ANKMY1,intron_variant,,ENST00000405523,;ANKMY1,intron_variant,,ENST00000441168,;ANKMY1,intron_variant,,ENST00000462004,;ANKMY1,downstream_gene_variant,,ENST00000418505,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000496300,;ANKMY1,intron_variant,,ENST00000459901,;ANKMY1,intron_variant,,ENST00000484526,;ANKMY1,upstream_gene_variant,,ENST00000480230,;	A	ENST00000401804	Transcript	missense_variant	647/3232	508/3093	170/1030	G/W	Ggg/Tgg		1		-1	ANKMY1	HGNC	HGNC:20987	protein_coding	YES	CCDS63185.1	ENSP00000385887		J3KQ21	UPI0000209839	NM_001282771.1	deleterious(0)		5/18		hmmpanther:PTHR15897,Pfam_domain:PF02493,Gene3D:1h3iA01,SMART_domains:SM00698,Superfamily_domains:0038399																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	240529482	240529482	C	A	1	0	0	0	0	1	0	0	0	735	594	21	2		2	ANKMY1	2	240529482	Missense_Mutation	SNP	C	C3L-00095_TP	508121	240529482	1664047	171	3552											
KIF1A	0	.	GRCh38	chr2	240760800	240760800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggtcgggtggcagaGgggagtagagtgtgtccgtc	7	7	20	7	2	0	2	0	0	0	2	3	3	1	3	1	5	1	4	1	5	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2309C>T	p.Pro770Leu	p.P770L	ENST00000498729	25/49	128	116	12	162	162	0	strelka-varscan-mutect	KIF1A,missense_variant,p.Pro770Leu,ENST00000498729,NM_001244008.1;KIF1A,missense_variant,p.Pro761Leu,ENST00000320389,NM_004321.6;KIF1A,missense_variant,p.Pro770Leu,ENST00000404283,;	A	ENST00000498729	Transcript	missense_variant	2556/9223	2309/5376	770/1791	P/L	cCt/cTt		1		-1	KIF1A	HGNC	HGNC:888	protein_coding	YES	CCDS58757.1	ENSP00000438388	Q12756		UPI0002065B81	NM_001244008.1	deleterious(0)		25/49		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF361,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	240760800	240760800	G	A	1	0	0	0	0	1	0	0	0	8147	1000	35	3		3	KIF1A	2	240760800	Missense_Mutation	SNP	G	C3L-00095_TP	231318	240760800	1432729	172	3553											
KIF1A	0	.	GRCh38	chr2	240788141	240788141	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccataggcgaagatgcaCacgttgtatccctcaaaggc	11	8	10	12	2	1	1	1	0	0	1	2	2	2	1	2	2	2	3	2	2	4	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.273G>T	p.=	p.V91V	ENST00000498729	4/49	341	323	18	464	462	2	strelka-varscan-mutect	KIF1A,synonymous_variant,p.=,ENST00000498729,NM_001244008.1;KIF1A,synonymous_variant,p.=,ENST00000320389,NM_004321.6;KIF1A,synonymous_variant,p.=,ENST00000404283,;KIF1A,upstream_gene_variant,,ENST00000428768,;KIF1A,downstream_gene_variant,,ENST00000448728,;	A	ENST00000498729	Transcript	synonymous_variant	520/9223	273/5376	91/1791	V	gtG/gtT		1		-1	KIF1A	HGNC	HGNC:888	protein_coding	YES	CCDS58757.1	ENSP00000438388	Q12756		UPI0002065B81	NM_001244008.1			4/49		Gene3D:3.40.850.10,Pfam_domain:PF00225,Prints_domain:PR00380,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF361,SMART_domains:SM00129,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs1409707032	.												A	2	1	10	240788141	240788141	C	A	1	0	0	0	0	0	0	0	1	8147	465	17	2		2	KIF1A	2	240788141	Silent	SNP	C	C3L-00095_TP	27341	240788141	1405388	173	3554											
PPP1R7	0	.	GRCh38	chr2	241153605	241153605	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggggaggaggacccagaagGtaccaggcccagctcccttg	9	4	16	12	0	0	1	0	0	0	1	1	4	1	4	4	6	2	2	4	6	2	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.181+1G>T		p.X61_splice	ENST00000234038		116	107	9	155	154	1	strelka-varscan-mutect	PPP1R7,splice_donor_variant,,ENST00000234038,NM_002712.2;PPP1R7,splice_donor_variant,,ENST00000407025,;PPP1R7,splice_donor_variant,,ENST00000450367,;PPP1R7,splice_donor_variant,,ENST00000404405,;PPP1R7,splice_donor_variant,,ENST00000438799,NM_001282412.1;PPP1R7,splice_donor_variant,,ENST00000406106,NM_001282410.1;PPP1R7,splice_donor_variant,,ENST00000439916,;PPP1R7,splice_donor_variant,,ENST00000427172,;PPP1R7,intron_variant,,ENST00000272983,NM_001282409.1;PPP1R7,intron_variant,,ENST00000423280,NM_001282413.1;PPP1R7,intron_variant,,ENST00000402734,NM_001282414.1;PPP1R7,intron_variant,,ENST00000401987,NM_001282411.1;PASK,upstream_gene_variant,,ENST00000403638,NM_001252124.1;PASK,upstream_gene_variant,,ENST00000405260,;PASK,upstream_gene_variant,,ENST00000544142,NM_001252120.1;PASK,upstream_gene_variant,,ENST00000234040,NM_015148.3,NM_001252122.1;PASK,upstream_gene_variant,,ENST00000358649,NM_001252119.1;PASK,upstream_gene_variant,,ENST00000452907,;PASK,upstream_gene_variant,,ENST00000415234,;PPP1R7,upstream_gene_variant,,ENST00000485630,;PPP1R7,upstream_gene_variant,,ENST00000467159,;PPP1R7,splice_donor_variant,,ENST00000473017,;PPP1R7,splice_donor_variant,,ENST00000498170,;PPP1R7,intron_variant,,ENST00000493374,;PASK,upstream_gene_variant,,ENST00000437780,;	T	ENST00000234038	Transcript	splice_donor_variant	-/2386	181/1083	61/360				1		1	PPP1R7	HGNC	HGNC:9295	protein_coding	YES	CCDS2546.1	ENSP00000234038	Q15435	A0A140VK83	UPI000006E65A	NM_002712.2				2/9																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	10	241153605	241153605	G	T	1	0	0	0	0	0	0	1	0	12499	1275	44	2		2	PPP1R7	2	241153605	Splice_Site	SNP	G	C3L-00095_TP	365464	241153605	1039924	174	3555											
FBLN2	0	.	GRCh38	chr3	13609517	13609517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccctctgtttcaggacaGcccagaggcactgctgtgtc	7	9	10	15	0	2	1	1	0	1	1	3	2	2	2	3	2	2	3	3	2	0	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1423G>T	p.Ala475Ser	p.A475S	ENST00000404922	4/18	110	100	10	112	112	0	strelka-varscan-mutect	FBLN2,missense_variant,p.Ala475Ser,ENST00000404922,NM_001004019.1;FBLN2,missense_variant,p.Ala475Ser,ENST00000492059,NM_001165035.1;FBLN2,missense_variant,p.Ala475Ser,ENST00000295760,NM_001998.2;FBLN2,upstream_gene_variant,,ENST00000477845,;	T	ENST00000404922	Transcript	missense_variant	1542/4318	1423/3696	475/1231	A/S	Gcc/Tcc		1		1	FBLN2	HGNC	HGNC:3601	protein_coding	YES	CCDS46761.1	ENSP00000384169	P98095		UPI000042B0C1	NM_001004019.1	deleterious(0.04)		4/18		PROSITE_profiles:PS01178,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF303,PROSITE_patterns:PS01177,Pfam_domain:PF01821,SMART_domains:SM00104,Superfamily_domains:SSF57184																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	13609517	13609517	G	T	1	0	0	0	0	1	0	0	0	5562	985	34	2		2	FBLN2	3	13609517	Missense_Mutation	SNP	G	C3L-00095_TP		13609517	184686042	175	3556											
DAZL	0	.	GRCh38	chr3	16598563	16598563	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtgctggcctctctggaGatggttgagtttggagtttc	4	15	16	6	0	1	2	0	1	1	1	3	4	1	3	1	5	1	4	1	5	0	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.99C>T	p.=	p.I33I	ENST00000250863	2/11	341	308	33	443	443	0	strelka-varscan-mutect	DAZL,synonymous_variant,p.=,ENST00000250863,NM_001190811.1;DAZL,synonymous_variant,p.=,ENST00000399444,NM_001351.3;DAZL,synonymous_variant,p.=,ENST00000454457,;	A	ENST00000250863	Transcript	synonymous_variant	387/3104	99/948	33/315	I	atC/atT		1		-1	DAZL	HGNC	HGNC:2685	protein_coding	YES	CCDS54556.1	ENSP00000250863	Q92904		UPI0000412129	NM_001190811.1			2/11		Low_complexity_(Seg):seg,hmmpanther:PTHR11176,hmmpanther:PTHR11176:SF4,Superfamily_domains:SSF54928																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	16598563	16598563	G	A	1	0	0	0	0	0	0	0	1	4047	932	33	3		3	DAZL	3	16598563	Silent	SNP	G	C3L-00095_TP	2989046	16598563	181696996	176	3557											
ZNF385D	0	.	GRCh38	chr3	21421357	21421357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggggaactcactgccaCtgctgctgcggctgctgcag	7	7	15	12	1	1	0	1	0	0	0	1	2	1	1	1	3	7	5	1	3	2	0	rs532679293		C3L-00095_TP	C3L-00095_NB	C	C																c.1045G>T	p.Val349Leu	p.V349L	ENST00000281523	8/8	342	319	23	458	458	0	strelka-varscan-mutect	ZNF385D,missense_variant,p.Val349Leu,ENST00000281523,NM_024697.2;ZNF385D,downstream_gene_variant,,ENST00000467140,;	A	ENST00000281523	Transcript	missense_variant	1564/10699	1045/1188	349/395	V/L	Gtg/Ttg	rs532679293	1		-1	ZNF385D	HGNC	HGNC:26191	protein_coding	YES	CCDS2636.1	ENSP00000281523	Q9H6B1		UPI00000724AC	NM_024697.2	tolerated(0.21)		8/8		Low_complexity_(Seg):seg,hmmpanther:PTHR23067:SF12,hmmpanther:PTHR23067																	MODERATE	1	SNV	1			1										PASS		rs532679293	.												A	3	1	10	21421357	21421357	C	A	1	0	0	0	0	1	0	0	0	18451	565	20	2		2	ZNF385D	3	21421357	Missense_Mutation	SNP	C	C3L-00095_TP	4822794	21421357	176874202	177	3558											
CCR8	0	.	GRCh38	chr3	39333378	39333378	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcactcctcccgttcctcCagcgtagactacattttgtg	7	12	7	15	2	0	1	0	0	0	1	4	1	4	1	4	0	3	3	4	0	2	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1047C>A	p.=	p.S349S	ENST00000326306	2/2	79	72	7	95	95	0	strelka-varscan-mutect	CCR8,synonymous_variant,p.=,ENST00000326306,NM_005201.3;CCR8,3_prime_UTR_variant,,ENST00000414803,;HNRNPA1P21,upstream_gene_variant,,ENST00000424115,;RP11-241K18.2,downstream_gene_variant,,ENST00000435940,;	A	ENST00000326306	Transcript	synonymous_variant	1185/1253	1047/1068	349/355	S	tcC/tcA		1		1	CCR8	HGNC	HGNC:1609	protein_coding	YES	CCDS2684.1	ENSP00000326432	P51685		UPI0000043587	NM_005201.3			2/2		Prints_domain:PR01530,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF627,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	39333378	39333378	C	A	1	0	0	0	0	0	0	0	1	2647	581	21	2		2	CCR8	3	39333378	Silent	SNP	C	C3L-00095_TP	17912021	39333378	158962181	178	3559											
TOPAZ1	0	.	GRCh38	chr3	44242234	44242234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgggccacccctgggagaGgcgaggtggaaagtgataag	10	4	17	10	2	0	2	0	1	0	1	0	5	0	3	4	5	0	0	4	5	2	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.181G>T	p.Gly61Cys	p.G61C	ENST00000309765	1/20	130	123	7	142	141	1	strelka-mutect	TOPAZ1,missense_variant,p.Gly61Cys,ENST00000309765,NM_001145030.1;	T	ENST00000309765	Transcript	missense_variant	349/5334	181/5079	61/1692	G/C	Ggc/Tgc		1		1	TOPAZ1	HGNC	HGNC:24746	protein_coding	YES	CCDS46809.1	ENSP00000310303	Q8N9V7		UPI000047FF75	NM_001145030.1	deleterious_low_confidence(0.04)		1/20		hmmpanther:PTHR35671,hmmpanther:PTHR35671:SF1																	MODERATE	1	SNV	5			1										PASS		rs998537680	.												T	3	4	10	44242234	44242234	G	T	1	0	0	0	0	1	0	0	0	16845	1000	35	2		2	TOPAZ1	3	44242234	Missense_Mutation	SNP	G	C3L-00095_TP	4908856	44242234	154053325	179	3560											
USP4	0	.	GRCh38	chr3	49327817	49327817	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggtctgactctcaggatCtaaaaaaggaaaagagcaca	18	6	9	8	0	3	2	1	1	3	1	4	4	3	4	0	3	1	1	0	3	6	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.230-1G>T		p.X77_splice	ENST00000265560		127	116	11	140	140	0	strelka-varscan	USP4,splice_acceptor_variant,,ENST00000351842,NM_199443.2;USP4,splice_acceptor_variant,,ENST00000265560,NM_003363.3;USP4,splice_acceptor_variant,,ENST00000416417,NM_001251877.1;USP4,splice_acceptor_variant,,ENST00000415188,;USP4,splice_acceptor_variant,,ENST00000491791,;USP4,splice_acceptor_variant,,ENST00000486549,;USP4,splice_acceptor_variant,,ENST00000464168,;	A	ENST00000265560	Transcript	splice_acceptor_variant	-/3126	230/2892	77/963				1		-1	USP4	HGNC	HGNC:12627	protein_coding	YES	CCDS2793.1	ENSP00000265560	Q13107	A0A024R2T0	UPI000013D63C	NM_003363.3				2/21																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	10	49327817	49327817	C	A	1	0	0	0	0	0	0	1	0	17613	927	32	2		2	USP4	3	49327817	Splice_Site	SNP	C	C3L-00095_TP	5085583	49327817	148967742	180	3561											
CACNA2D3	0	.	GRCh38	chr3	54562854	54562854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctctaaacaaagtttttgTagataactttgaccgtgacc	13	14	6	8	1	1	3	0	2	1	1	2	3	1	3	2	0	2	2	2	0	5	6	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.599T>C	p.Val200Ala	p.V200A	ENST00000474759	6/38	215	202	13	244	244	0	strelka-varscan-mutect	CACNA2D3,missense_variant,p.Val200Ala,ENST00000474759,NM_018398.2;CACNA2D3,missense_variant,p.Val200Ala,ENST00000288197,;CACNA2D3,missense_variant,p.Val200Ala,ENST00000415676,;CACNA2D3,missense_variant,p.Val106Ala,ENST00000490478,;CACNA2D3,missense_variant,p.Val106Ala,ENST00000620722,;CACNA2D3,missense_variant,p.Val106Ala,ENST00000492460,;CACNA2D3,missense_variant,p.Val106Ala,ENST00000471363,;CACNA2D3,missense_variant,p.Val106Ala,ENST00000477024,;CACNA2D3,3_prime_UTR_variant,,ENST00000468658,;	C	ENST00000474759	Transcript	missense_variant	647/3675	599/3276	200/1091	V/A	gTa/gCa		1		1	CACNA2D3	HGNC	HGNC:15460	protein_coding	YES	CCDS54598.1	ENSP00000419101	Q8IZS8		UPI000004A7BF	NM_018398.2	deleterious(0.03)		6/38		hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF25,Gene3D:3.30.450.20,Pfam_domain:PF08399																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	54562854	54562854	T	C	1	0	0	0	0	1	0	0	0	2238	1638	57	5		5	CACNA2D3	3	54562854	Missense_Mutation	SNP	T	C3L-00095_TP	5235037	54562854	143732705	181	3562											
DNASE1L3	0	.	GRCh38	chr3	58193420	58193420	+	Frame_Shift_Del	DEL	C	C	-																															aacaacagaactgacgatttCttgtcctctaagcacaatcc																										C3L-00095_TP	C3L-00095_NB	C	C																c.724delG	p.Glu242LysfsTer22	p.E242Kfs*22	ENST00000394549	7/8	84	75	9	142	142	0	sindel-varindel-pindel	DNASE1L3,frameshift_variant,p.Glu242LysfsTer22,ENST00000483681,;DNASE1L3,frameshift_variant,p.Glu212LysfsTer22,ENST00000486455,NM_001256560.1;DNASE1L3,frameshift_variant,p.Glu242LysfsTer22,ENST00000394549,NM_004944.3;DNASE1L3,intron_variant,,ENST00000477209,;	-	ENST00000394549	Transcript	frameshift_variant	1041/1294	724/918	242/305	E/X	Gaa/aa	COSM1204233	1		-1	DNASE1L3	HGNC	HGNC:2959	protein_coding	YES	CCDS2886.1	ENSP00000378053	Q13609	A0A024R365	UPI0000129890	NM_004944.3			7/8		hmmpanther:PTHR11371,hmmpanther:PTHR11371:SF32,Gene3D:3.60.10.10,Pfam_domain:PF03372,PIRSF_domain:PIRSF000988,SMART_domains:SM00476,Superfamily_domains:SSF56219											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	10	58193420	58193420	C	-	1	0	1	0	1	0	0	0	0	4476	922	32	0		0	DNASE1L3	3	58193420	Frame_Shift_Del	DEL	C	C3L-00095_TP	3630566	58193420	140102139	182	3563											
TMEM45A	0	.	GRCh38	chr3	100558547	100558547	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtacttctggagctattGcggtcaagtctcattctgct	8	15	9	9	1	4	0	2	0	3	0	5	1	4	1	0	2	4	3	0	2	4	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.546G>A	p.=	p.L182L	ENST00000323523	4/6	178	165	13	228	228	0	strelka-varscan-mutect	TMEM45A,synonymous_variant,p.=,ENST00000403410,;TMEM45A,synonymous_variant,p.=,ENST00000323523,NM_018004.1;TMEM45A,downstream_gene_variant,,ENST00000449609,;TMEM45A,downstream_gene_variant,,ENST00000462884,;	A	ENST00000323523	Transcript	synonymous_variant	859/1567	546/828	182/275	L	ttG/ttA		1		1	TMEM45A	HGNC	HGNC:25480	protein_coding	YES	CCDS2937.1	ENSP00000319009	Q9NWC5		UPI0000039E49	NM_018004.1			4/6		Pfam_domain:PF04819,hmmpanther:PTHR16007,hmmpanther:PTHR16007:SF21,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	100558547	100558547	G	A	1	0	0	0	0	0	0	0	1	16646	1310	46	3		3	TMEM45A	3	100558547	Silent	SNP	G	C3L-00095_TP	42365127	100558547	97737012	183	3564											
DZIP3	0	.	GRCh38	chr3	108672596	108672596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaacataatctggaaagCacaatgaaaacatacgtaag	22	6	7	6	1	1	1	0	1	1	0	1	3	1	2	0	1	4	2	0	1	9	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2529C>T	p.=	p.S843S	ENST00000361582	23/33	210	194	16	183	183	0	strelka-varscan-mutect	DZIP3,synonymous_variant,p.=,ENST00000361582,NM_014648.3;DZIP3,synonymous_variant,p.=,ENST00000463306,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;	T	ENST00000361582	Transcript	synonymous_variant	2759/5350	2529/3627	843/1208	S	agC/agT		1		1	DZIP3	HGNC	HGNC:30938	protein_coding	YES	CCDS2952.1	ENSP00000355028	Q86Y13		UPI000006E7D4	NM_014648.3			23/33		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22763,hmmpanther:PTHR22763:SF55																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	108672596	108672596	C	T	1	0	0	0	0	0	0	0	1	4689	709	25	3		3	DZIP3	3	108672596	Silent	SNP	C	C3L-00095_TP	8114049	108672596	89622963	184	3565											
TIGIT	0	.	GRCh38	chr3	114295549	114295549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcctcttccctaggaatGatgacaggcacaatagaaac	13	9	8	11	1	1	3	0	2	1	1	4	4	3	4	2	2	1	1	2	2	5	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.66G>T	p.Met22Ile	p.M22I	ENST00000486257	3/5	96	86	10	123	123	0	strelka-varscan-mutect	TIGIT,start_lost,p.Met1?,ENST00000461158,;TIGIT,start_lost,p.Met1?,ENST00000484319,;TIGIT,missense_variant,p.Met89Ile,ENST00000481065,;TIGIT,missense_variant,p.Met22Ile,ENST00000486257,;TIGIT,missense_variant,p.Met22Ile,ENST00000383671,NM_173799.3;TIGIT,non_coding_transcript_exon_variant,,ENST00000485814,;	T	ENST00000486257	Transcript	missense_variant	323/3149	66/735	22/244	M/I	atG/atT		1		1	TIGIT	HGNC	HGNC:26838	protein_coding	YES	CCDS2980.1	ENSP00000419085	Q495A1		UPI000013F7B8		tolerated(0.15)		3/5		PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF49																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	114295549	114295549	G	T	1	0	0	0	0	1	0	0	0	16340	1304	45	2		2	TIGIT	3	114295549	Missense_Mutation	SNP	G	C3L-00095_TP	5622953	114295549	84000010	185	3566											
POLQ	0	.	GRCh38	chr3	121512025	121512025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttacaaattaagatactCtcgcctataaccaaaagata	17	12	3	9	1	2	2	0	0	2	2	3	2	2	2	2	0	3	0	2	0	9	7	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1473G>T	p.Glu491Asp	p.E491D	ENST00000264233	10/30	79	70	9	89	89	0	strelka-varscan-mutect	POLQ,missense_variant,p.Glu626Asp,ENST00000621776,;POLQ,missense_variant,p.Glu491Asp,ENST00000264233,NM_199420.3;	A	ENST00000264233	Transcript	missense_variant	1602/8775	1473/7773	491/2590	E/D	gaG/gaT		1		-1	POLQ	HGNC	HGNC:9186	protein_coding	YES	CCDS33833.1	ENSP00000264233	O75417		UPI0000D61B5F	NM_199420.3	deleterious(0)		10/30		PROSITE_profiles:PS51194,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	121512025	121512025	C	A	1	0	0	0	0	1	0	0	0	12318	927	32	2		2	POLQ	3	121512025	Missense_Mutation	SNP	C	C3L-00095_TP	7216476	121512025	76783534	186	3567											
CASR	0	.	GRCh38	chr3	122276043	122276043	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagtgggttctccagggagGtaggtgctgtccatcagaaa	9	9	16	7	0	2	1	1	0	1	1	4	3	3	3	2	5	1	3	2	5	2	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1608+1G>T		p.X536_splice	ENST00000498619		361	337	24	468	467	1	strelka-varscan-mutect	CASR,splice_donor_variant,,ENST00000498619,NM_001178065.1;CASR,splice_donor_variant,,ENST00000490131,NM_000388.3;	T	ENST00000498619	Transcript	splice_donor_variant	-/5011	1608/3267	536/1088				1		1	CASR	HGNC	HGNC:1514	protein_coding	YES	CCDS54632.1	ENSP00000420194		E7ENE0	UPI000020A065	NM_001178065.1				5/6																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	10	122276043	122276043	G	T	1	0	0	0	0	0	0	1	0	2381	1275	44	2		2	CASR	3	122276043	Splice_Site	SNP	G	C3L-00095_TP	764018	122276043	76019516	187	3568											
SEMA5B	0	.	GRCh38	chr3	122915510	122915510	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcggggtcgaggggaatCacaggatcgagctcgacaca	12	4	15	10	4	1	0	1	0	0	0	4	5	1	2	0	5	2	1	0	5	1	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2080G>C	p.Asp694His	p.D694H	ENST00000451055	14/23	140	130	10	187	187	0	strelka-varscan-mutect	SEMA5B,missense_variant,p.Asp640His,ENST00000616742,NM_001256346.1;SEMA5B,missense_variant,p.Asp640His,ENST00000357599,NM_001031702.3;SEMA5B,missense_variant,p.Asp694His,ENST00000451055,NM_001256347.1;SEMA5B,missense_variant,p.Asp582His,ENST00000195173,NM_001256348.1;SEMA5B,missense_variant,p.Asp640His,ENST00000393583,;SEMA5B,upstream_gene_variant,,ENST00000451541,;SEMA5B,missense_variant,p.Asp640His,ENST00000475244,;	G	ENST00000451055	Transcript	missense_variant	2091/4579	2080/3618	694/1205	D/H	Gat/Cat		1		-1	SEMA5B	HGNC	HGNC:10737	protein_coding	YES	CCDS58848.1	ENSP00000389588	Q9P283		UPI0002065011	NM_001256347.1	deleterious(0)		14/23		Gene3D:2.20.100.10																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	10	122915510	122915510	C	G	1	0	0	0	0	1	0	0	0	14314	826	29	4		4	SEMA5B	3	122915510	Missense_Mutation	SNP	C	C3L-00095_TP	639467	122915510	75380049	188	3569											
MYLK	0	.	GRCh38	chr3	123738925	123738925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgacctgcggttggggcCggccagtgatcttgcaggag	6	8	18	9	2	1	2	0	2	1	0	1	3	1	3	3	6	2	2	3	6	0	2	rs762477499		C3L-00095_TP	C3L-00095_NB	C	C																c.560G>T	p.Arg187Leu	p.R187L	ENST00000360304	6/33	450	413	37	489	488	1	strelka-varscan-mutect	MYLK,missense_variant,p.Arg187Leu,ENST00000360772,;MYLK,missense_variant,p.Arg187Leu,ENST00000360304,NM_001321309.1,NM_053025.3;MYLK,missense_variant,p.Arg187Leu,ENST00000359169,NM_053027.3;MYLK,missense_variant,p.Arg187Leu,ENST00000354792,;MYLK,missense_variant,p.Arg187Leu,ENST00000346322,NM_053028.3,NM_053026.3;MYLK,missense_variant,p.Arg187Leu,ENST00000475616,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,non_coding_transcript_exon_variant,,ENST00000506361,;MYLK,upstream_gene_variant,,ENST00000514623,;MYLK,downstream_gene_variant,,ENST00000510571,;	A	ENST00000360304	Transcript	missense_variant	746/7738	560/5745	187/1914	R/L	cGg/cTg	rs762477499	1		-1	MYLK	HGNC	HGNC:7590	protein_coding	YES	CCDS46896.1	ENSP00000353452	Q15746		UPI000020A0AE	NM_001321309.1,NM_053025.3	tolerated(0.18)		6/33		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF700,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs762477499	.												A	3	1	10	123738925	123738925	C	A	1	0	0	0	0	1	0	0	0	10056	652	23	1		1	MYLK	3	123738925	Missense_Mutation	SNP	C	C3L-00095_TP	823415	123738925	74556634	189	3570											
UROC1	0	.	GRCh38	chr3	126505986	126505986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggggaccgatgtagcagtAgctacctgctgtcatctggc	7	10	13	11	1	2	0	1	0	1	0	2	2	2	1	2	3	4	5	2	3	3	3	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.628T>C	p.Tyr210His	p.Y210H	ENST00000383579	7/21	344	312	32	381	381	0	strelka-varscan-mutect	UROC1,missense_variant,p.Tyr210His,ENST00000290868,NM_144639.2;UROC1,missense_variant,p.Tyr210His,ENST00000383579,NM_001165974.1;	G	ENST00000383579	Transcript	missense_variant	662/2735	628/2211	210/736	Y/H	Tac/Cac		1		-1	UROC1	HGNC	HGNC:26444	protein_coding	YES	CCDS54636.1	ENSP00000373073	Q96N76		UPI0000480109	NM_001165974.1	deleterious(0.03)		7/21		Gene3D:1x87B01,HAMAP:MF_00577,Pfam_domain:PF01175,hmmpanther:PTHR12216,hmmpanther:PTHR12216:SF3,Superfamily_domains:SSF111326																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	126505986	126505986	A	G	1	0	0	0	0	1	0	0	0	17560	420	15	5		5	UROC1	3	126505986	Missense_Mutation	SNP	A	C3L-00095_TP	2767061	126505986	71789573	190	3571											
COL6A6	0	.	GRCh38	chr3	130582035	130582035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatgatgatgttgagaaaCttgaacaaaaatctgatgaa	17	11	10	3	0	1	6	0	6	1	1	1	8	1	7	0	1	2	1	0	1	5	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.3937C>A	p.Leu1313Ile	p.L1313I	ENST00000358511	9/36	135	125	10	100	100	0	strelka-varscan-mutect	COL6A6,missense_variant,p.Leu1313Ile,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Leu71Ile,ENST00000511332,;COL6A6,missense_variant,p.Leu91Ile,ENST00000506143,;	A	ENST00000358511	Transcript	missense_variant	3968/9581	3937/6792	1313/2263	L/I	Ctt/Att		1		1	COL6A6	HGNC	HGNC:27023	protein_coding	YES	CCDS46911.1	ENSP00000351310	A6NMZ7		UPI00015B6548	NM_001102608.1	deleterious(0)		9/36		Gene3D:3.40.50.410,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF61,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	130582035	130582035	C	A	1	0	0	0	0	1	0	0	0	3492	565	20	2		2	COL6A6	3	130582035	Missense_Mutation	SNP	C	C3L-00095_TP	4076049	130582035	67713524	191	3572											
PIK3R4	0	.	GRCh38	chr3	130728475	130728475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacataccaactatactatCaaaaaatgctccacgtagat	19	9	3	10	1	1	1	1	0	0	1	2	1	2	1	2	0	5	2	2	0	10	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1795G>C	p.Asp599His	p.D599H	ENST00000356763	6/20	62	58	4	65	65	0	strelka-varscan-mutect	PIK3R4,missense_variant,p.Asp599His,ENST00000356763,NM_014602.2;PIK3R4,upstream_gene_variant,,ENST00000508273,;PIK3R4,upstream_gene_variant,,ENST00000512430,;PIK3R4,upstream_gene_variant,,ENST00000507330,;PIK3R4,intron_variant,,ENST00000504834,;	G	ENST00000356763	Transcript	missense_variant	2353/5015	1795/4077	599/1358	D/H	Gat/Cat		1		-1	PIK3R4	HGNC	HGNC:8982	protein_coding	YES	CCDS3067.1	ENSP00000349205	Q99570		UPI0000071EF3	NM_014602.2	deleterious(0)		6/20		Gene3D:1.25.10.10,hmmpanther:PTHR17583,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	130728475	130728475	C	G	1	0	0	0	0	1	0	0	0	12016	826	29	4		4	PIK3R4	3	130728475	Missense_Mutation	SNP	C	C3L-00095_TP	146440	130728475	67567084	192	3573											
PRR23C	0	.	GRCh38	chr3	139043900	139043900	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gagctccgggcgcgcgtgggGacctggactcggagagggag	6	4	21	10	5	0	1	0	0	0	1	2	6	1	4	2	6	1	1	2	6	0	0	rs749283724		C3L-00095_TP	C3L-00095_NB	G	G																c.721C>G	p.Pro241Ala	p.P241A	ENST00000413199	1/1	166	154	12	198	198	0	strelka-varscan-mutect	PRR23C,missense_variant,p.Pro241Ala,ENST00000413199,NM_001134657.1;MRPS22,intron_variant,,ENST00000495075,;	C	ENST00000413199	Transcript	missense_variant	993/2791	721/789	241/262	P/A	Ccc/Gcc	rs749283724	1		-1	PRR23C	HGNC	HGNC:37173	protein_coding	YES	CCDS46924.1	ENSP00000396648	Q6ZRP0		UPI00001C0F48	NM_001134657.1	deleterious(0.04)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR31813:SF6,hmmpanther:PTHR31813,Pfam_domain:PF10630																	MODERATE		SNV				1										PASS		rs749283724	.												C	3	2	10	139043900	139043900	G	C	1	0	0	0	0	1	0	0	0	12731	1174	41	4		4	PRR23C	3	139043900	Missense_Mutation	SNP	G	C3L-00095_TP	8315425	139043900	59251659	193	3574											
XRN1	0	.	GRCh38	chr3	142405044	142405044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttcctttttgagggagtgGttacatgtctccatggcttc	5	17	10	9	0	2	1	0	1	2	0	5	2	3	2	2	3	1	2	2	3	1	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1746C>G	p.Asn582Lys	p.N582K	ENST00000264951	16/42	243	220	23	296	296	0	strelka-varscan-mutect	XRN1,missense_variant,p.Asn582Lys,ENST00000264951,NM_019001.4;XRN1,missense_variant,p.Asn48Lys,ENST00000498077,;XRN1,missense_variant,p.Asn582Lys,ENST00000392981,NM_001282857.1;RNU6-1294P,downstream_gene_variant,,ENST00000515995,;XRN1,non_coding_transcript_exon_variant,,ENST00000472697,;	C	ENST00000264951	Transcript	missense_variant	1864/10143	1746/5121	582/1706	N/K	aaC/aaG		1		-1	XRN1	HGNC	HGNC:30654	protein_coding	YES	CCDS3123.1	ENSP00000264951	Q8IZH2		UPI0000074113	NM_019001.4	tolerated(0.07)		16/42		hmmpanther:PTHR12341:SF7,hmmpanther:PTHR12341																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	142405044	142405044	G	C	1	0	0	0	0	1	0	0	0	18017	1252	44	4		4	XRN1	3	142405044	Missense_Mutation	SNP	G	C3L-00095_TP	3361144	142405044	55890515	194	3575											
ATR	0	.	GRCh38	chr3	142505261	142505261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctttctaattgcactgaCtccggccactccatcaggtt	7	13	7	14	1	2	1	1	1	1	0	4	1	4	1	4	2	2	2	4	2	1	4			C3L-00095_TP	C3L-00095_NB	C	C																c.5074G>A	p.Val1692Ile	p.V1692I	ENST00000350721	29/47	342	321	21	425	425	0	strelka-varscan-mutect	ATR,missense_variant,p.Val1692Ile,ENST00000350721,NM_001184.3;	T	ENST00000350721	Transcript	missense_variant	5196/8249	5074/7935	1692/2644	V/I	Gtc/Atc	COSM5575473	1		-1	ATR	HGNC	HGNC:882	protein_coding	YES	CCDS3124.1	ENSP00000343741	Q13535		UPI0000031A31	NM_001184.3	tolerated(0.13)		29/47		Gene3D:1.25.40.10,PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF69											1						MODERATE	1	SNV	1		1	1										PASS		rs1448553710	.												T	3	4	10	142505261	142505261	C	T	1	0	0	0	0	1	0	0	0	1356	565	20	3		3	ATR	3	142505261	Missense_Mutation	SNP	C	C3L-00095_TP	100217	142505261	55790298	195	3576											
PCOLCE2	0	.	GRCh38	chr3	142848448	142848448	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctatgaatcggaaattgaGaacgactacttttccttcgg	11	13	9	8	3	1	2	0	2	1	1	4	5	2	3	1	2	2	0	1	2	5	6			C3L-00095_TP	C3L-00095_NB	G	G																c.217C>A	p.Leu73Ile	p.L73I	ENST00000295992	3/9	96	90	6	129	129	0	strelka-varscan-mutect	PCOLCE2,missense_variant,p.Leu73Ile,ENST00000295992,NM_013363.3;PCOLCE2,missense_variant,p.Leu73Ile,ENST00000485766,;PCOLCE2,non_coding_transcript_exon_variant,,ENST00000495732,;PCOLCE2,upstream_gene_variant,,ENST00000480473,;PCOLCE2,upstream_gene_variant,,ENST00000483986,;	T	ENST00000295992	Transcript	missense_variant	524/2021	217/1248	73/415	L/I	Ctc/Atc	COSM3588323	1		-1	PCOLCE2	HGNC	HGNC:8739	protein_coding	YES	CCDS3127.1	ENSP00000295992	Q9UKZ9		UPI0000073F93	NM_013363.3	deleterious(0.02)		3/9		PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF40,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	10	142848448	142848448	G	T	1	0	0	0	0	1	0	0	0	11684	942	33	2		2	PCOLCE2	3	142848448	Missense_Mutation	SNP	G	C3L-00095_TP	343187	142848448	55447111	196	3577											
PLSCR5	0	.	GRCh38	chr3	146600378	146600378	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgccatgcttggttcccTggattggaagaggcaggaag	9	9	15	8	0	0	1	0	0	0	1	1	4	1	4	2	5	3	4	2	5	2	3	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.99A>T	p.=	p.P33P	ENST00000443512	2/8	261	245	16	328	328	0	strelka-varscan-mutect	PLSCR5,synonymous_variant,p.=,ENST00000443512,NM_001085420.1;PLSCR5,synonymous_variant,p.=,ENST00000492200,;PLSCR5,synonymous_variant,p.=,ENST00000482567,;	A	ENST00000443512	Transcript	synonymous_variant	1103/1969	99/816	33/271	P	ccA/ccT		1		-1	PLSCR5	HGNC	HGNC:19952	protein_coding	YES	CCDS46931.1	ENSP00000390111	A0PG75		UPI0000425F34	NM_001085420.1			2/8		hmmpanther:PTHR23248,hmmpanther:PTHR23248:SF25																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	146600378	146600378	T	A	1	0	0	0	0	0	0	0	1	12220	1567	55	4		4	PLSCR5	3	146600378	Silent	SNP	T	C3L-00095_TP	3751930	146600378	51695181	197	3578											
WWTR1	0	.	GRCh38	chr3	149542407	149542407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attctctgaagccgcagtttCtgctgctgctgctgctgagt	5	14	11	11	1	2	2	0	2	2	0	3	2	2	2	1	0	6	7	1	0	1	2			C3L-00095_TP	C3L-00095_NB	C	C																c.699G>A	p.=	p.Q233Q	ENST00000465804	5/8	165	154	11	212	212	0	strelka-varscan-mutect	WWTR1,synonymous_variant,p.=,ENST00000465804,NM_001168278.1;WWTR1,synonymous_variant,p.=,ENST00000360632,NM_015472.4;WWTR1,synonymous_variant,p.=,ENST00000467467,NM_001168280.1;WWTR1,synonymous_variant,p.=,ENST00000472417,;WWTR1,non_coding_transcript_exon_variant,,ENST00000485244,;WWTR1,upstream_gene_variant,,ENST00000471586,;WWTR1,upstream_gene_variant,,ENST00000494754,;	T	ENST00000465804	Transcript	synonymous_variant	956/5030	699/1203	233/400	Q	caG/caA	COSM3774624	1		-1	WWTR1	HGNC	HGNC:24042	protein_coding	YES	CCDS3144.1	ENSP00000419465	Q9GZV5		UPI000006D122	NM_001168278.1			5/8		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR17616,hmmpanther:PTHR17616:SF6,Low_complexity_(Seg):seg											1						LOW	1	SNV	2		1	1										PASS		.	.												T	2	4	10	149542407	149542407	C	T	1	0	0	0	0	0	0	0	1	17975	912	32	3		3	WWTR1	3	149542407	Silent	SNP	C	C3L-00095_TP	2942029	149542407	48753152	198	3579											
MED12L	0	.	GRCh38	chr3	151388108	151388108	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagatcagggaaaaaccaCaacagatgaagaaaagaaaa	23	3	9	6	0	2	5	2	1	0	4	2	6	2	6	1	1	2	0	1	1	8	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.5282C>G	p.Thr1761Arg	p.T1761R	ENST00000474524	35/43	158	149	9	174	174	0	strelka-varscan-mutect	MED12L,missense_variant,p.Thr1761Arg,ENST00000474524,NM_053002.5;MED12L,missense_variant,p.Thr1621Arg,ENST00000273432,;P2RY12,upstream_gene_variant,,ENST00000302632,NM_176876.2,NM_022788.4;	G	ENST00000474524	Transcript	missense_variant	5320/10744	5282/6438	1761/2145	T/R	aCa/aGa		1		1	MED12L	HGNC	HGNC:16050	protein_coding	YES	CCDS33876.1	ENSP00000417235	Q86YW9		UPI000020A46B	NM_053002.5	tolerated(0.29)		35/43		Low_complexity_(Seg):seg,hmmpanther:PTHR13992:SF22,hmmpanther:PTHR13992																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	151388108	151388108	C	G	1	0	0	0	0	1	0	0	0	9368	478	17	4		4	MED12L	3	151388108	Missense_Mutation	SNP	C	C3L-00095_TP	1845701	151388108	46907451	199	3580											
PQLC2L	0	.	GRCh38	chr3	157571966	157571966	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactccagatttttacagcCatcttcgacatgaacacgga	12	10	6	13	2	1	2	0	1	1	1	3	4	2	3	3	1	3	0	3	1	2	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.225C>T	p.=	p.A75A	ENST00000449199	4/5	123	112	11	119	119	0	strelka-mutect	PQLC2L,synonymous_variant,p.=,ENST00000449199,NM_001130002.2;PQLC2L,synonymous_variant,p.=,ENST00000312275,NM_001099777.3;PQLC2L,intron_variant,,ENST00000426338,NM_001130001.2;PQLC2L,intron_variant,,ENST00000459838,NM_001243729.1;PQLC2L,intron_variant,,ENST00000461040,;PQLC2L,downstream_gene_variant,,ENST00000468043,;PQLC2L,downstream_gene_variant,,ENST00000498159,;	T	ENST00000449199	Transcript	synonymous_variant	366/1484	225/408	75/135	A	gcC/gcT		1		1	PQLC2L	HGNC	HGNC:25146	protein_coding	YES	CCDS46943.1	ENSP00000413228	A1A4F0		UPI0000161AB6	NM_001130002.2			4/5		hmmpanther:PTHR16201,hmmpanther:PTHR16201:SF42																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	157571966	157571966	C	T	1	0	0	0	0	0	0	0	1	12546	581	21	3		3	PQLC2L	3	157571966	Silent	SNP	C	C3L-00095_TP	6183858	157571966	40723593	200	3581											
PQLC2L	0	.	GRCh38	chr3	157600242	157600242	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaccagagagaaagtcAgattgtcactttggggagtc	12	9	11	9	0	3	3	3	0	0	3	4	5	3	4	2	2	0	0	2	2	1	2	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.352A>T	p.Arg118Ter	p.R118*	ENST00000449199	5/5	379	357	22	330	329	1	strelka-varscan-mutect	PQLC2L,stop_gained,p.Arg118Ter,ENST00000449199,NM_001130002.2;PQLC2L,missense_variant,p.Gln88Leu,ENST00000426338,NM_001130001.2;PQLC2L,intron_variant,,ENST00000461040,;	T	ENST00000449199	Transcript	stop_gained	493/1484	352/408	118/135	R/*	Aga/Tga		1		1	PQLC2L	HGNC	HGNC:25146	protein_coding	YES	CCDS46943.1	ENSP00000413228	A1A4F0		UPI0000161AB6	NM_001130002.2			5/5		hmmpanther:PTHR16201,hmmpanther:PTHR16201:SF42																	HIGH	1	SNV	1			1										PASS		rs1423900619	.												T	4	4	10	157600242	157600242	A	T	1	0	0	0	0	0	1	0	0	12546	180	7	4		4	PQLC2L	3	157600242	Nonsense_Mutation	SNP	A	C3L-00095_TP	28276	157600242	40695317	201	3582											
SLITRK3	0	.	GRCh38	chr3	165188477	165188477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcctcacccattcccGgtggttgtgtccctggaccc	5	9	12	15	1	1	1	1	0	0	1	3	3	3	2	5	4	1	1	5	4	0	2			C3L-00095_TP	C3L-00095_NB	G	G																c.2354C>A	p.Pro785Gln	p.P785Q	ENST00000475390	2/2	101	95	6	144	144	0	strelka-varscan-mutect	SLITRK3,missense_variant,p.Pro785Gln,ENST00000475390,NM_001318811.1,NM_001318810.1;SLITRK3,missense_variant,p.Pro785Gln,ENST00000241274,NM_014926.2;SLITRK3,downstream_gene_variant,,ENST00000497724,;	T	ENST00000475390	Transcript	missense_variant	2798/4555	2354/2934	785/977	P/Q	cCg/cAg	COSM76519	1		-1	SLITRK3	HGNC	HGNC:23501	protein_coding	YES	CCDS3197.1	ENSP00000420091	O94933		UPI000004F259	NM_001318811.1,NM_001318810.1	tolerated(0.15)		2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF14											1						MODERATE	1	SNV	1		1	1										PASS		rs1490316717	.												T	3	4	10	165188477	165188477	G	T	1	0	0	0	0	1	0	0	0	15035	1116	39	1		1	SLITRK3	3	165188477	Missense_Mutation	SNP	G	C3L-00095_TP	7588235	165188477	33107082	202	3583											
ZBBX	0	.	GRCh38	chr3	167317065	167317065	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgtttaatgtttctacTggcaataaaagagctgtgtg	11	16	9	5	0	2	1	0	0	2	1	2	1	2	1	0	1	2	4	0	1	6	6	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.1134A>T	p.=	p.P378P	ENST00000455345	13/21	183	162	21	116	116	0	strelka-varscan-mutect	ZBBX,synonymous_variant,p.=,ENST00000392766,NM_024687.3;ZBBX,synonymous_variant,p.=,ENST00000455345,NM_001199201.1;ZBBX,synonymous_variant,p.=,ENST00000307529,;ZBBX,synonymous_variant,p.=,ENST00000392767,;ZBBX,synonymous_variant,p.=,ENST00000392764,NM_001199202.1;ZBBX,non_coding_transcript_exon_variant,,ENST00000469220,;	A	ENST00000455345	Transcript	synonymous_variant	1418/3185	1134/2520	378/839	P	ccA/ccT		1		-1	ZBBX	HGNC	HGNC:26245	protein_coding	YES	CCDS56296.1	ENSP00000390232	A8MT70		UPI000020A746	NM_001199201.1			13/21		hmmpanther:PTHR28634																	LOW	1	SNV	1			1										PASS		rs1270173418	.												A	2	1	10	167317065	167317065	T	A	1	0	0	0	0	0	0	0	1	18078	1567	55	4		4	ZBBX	3	167317065	Silent	SNP	T	C3L-00095_TP	2128588	167317065	30978494	203	3584											
SERPINI1	0	.	GRCh38	chr3	167792614	167792614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaagatttggtatcccCaagggattttgatgctgcca	10	12	12	7	0	0	3	0	2	0	1	1	4	1	4	3	3	2	2	3	3	3	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.506C>T	p.Pro169Leu	p.P169L	ENST00000295777	4/9	177	165	12	205	202	3	varscan-mutect	SERPINI1,missense_variant,p.Pro169Leu,ENST00000295777,NM_005025.4;SERPINI1,missense_variant,p.Pro169Leu,ENST00000446050,NM_001122752.1;SERPINI1,missense_variant,p.Pro169Leu,ENST00000472747,;SERPINI1,downstream_gene_variant,,ENST00000472941,;	T	ENST00000295777	Transcript	missense_variant	937/1907	506/1233	169/410	P/L	cCa/cTa		1		1	SERPINI1	HGNC	HGNC:8943	protein_coding	YES	CCDS3203.1	ENSP00000295777	Q99574	A0A0S2Z455	UPI000002FBA4	NM_005025.4	tolerated(0.25)		4/9		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF50,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	167792614	167792614	C	T	1	0	0	0	0	1	0	0	0	14394	594	21	3		3	SERPINI1	3	167792614	Missense_Mutation	SNP	C	C3L-00095_TP	475549	167792614	30502945	204	3585											
SPATA16	0	.	GRCh38	chr3	173117395	173117395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttctttaaggggatgtgagGcagaggcatggtgattaact	10	12	15	4	0	1	3	0	2	1	1	1	4	1	4	0	5	1	3	0	5	2	4	rs778611950		C3L-00095_TP	C3L-00095_NB	G	G																c.337C>A	p.Pro113Thr	p.P113T	ENST00000351008	2/11	676	639	37	747	746	1	strelka-varscan-mutect	SPATA16,missense_variant,p.Pro113Thr,ENST00000351008,NM_031955.5;	T	ENST00000351008	Transcript	missense_variant	521/2106	337/1710	113/569	P/T	Cct/Act	rs778611950	1		-1	SPATA16	HGNC	HGNC:29935	protein_coding	YES	CCDS3221.1	ENSP00000341765	Q9BXB7	A0A140VJV8	UPI000013D9BF	NM_031955.5	tolerated(0.09)		2/11		Pfam_domain:PF15015,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF336																	MODERATE	1	SNV	1			1										PASS		rs778611950	.												T	3	4	10	173117395	173117395	G	T	1	0	0	0	0	1	0	0	0	15331	1203	42	2		2	SPATA16	3	173117395	Missense_Mutation	SNP	G	C3L-00095_TP	5324781	173117395	25178164	205	3586											
NLGN1	0	.	GRCh38	chr3	173604861	173604861	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggttccatatgcagcccCaccaacaggggaacgtcgtt	9	8	12	12	2	0	0	0	0	0	0	2	1	1	1	4	4	4	3	4	4	3	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.263C>A	p.Pro88Gln	p.P88Q	ENST00000457714	3/7	204	189	15	227	227	0	strelka-varscan-mutect	NLGN1,missense_variant,p.Pro88Gln,ENST00000457714,NM_014932.3;NLGN1,missense_variant,p.Pro88Gln,ENST00000361589,;NLGN1,missense_variant,p.Pro88Gln,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000423427,;NLGN1,downstream_gene_variant,,ENST00000413821,;	A	ENST00000457714	Transcript	missense_variant	692/8242	263/2472	88/823	P/Q	cCa/cAa		1		1	NLGN1	HGNC	HGNC:14291	protein_coding	YES	CCDS3222.1	ENSP00000392500	Q8N2Q7		UPI0000072F54	NM_014932.3	deleterious(0)		3/7		hmmpanther:PTHR11559:SF52,hmmpanther:PTHR11559,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		rs966805126	.												A	3	1	10	173604861	173604861	C	A	1	0	0	0	0	1	0	0	0	10498	594	21	2		2	NLGN1	3	173604861	Missense_Mutation	SNP	C	C3L-00095_TP	487466	173604861	24690698	206	3587											
ABCC5	0	.	GRCh38	chr3	183987724	183987724	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagtgttagagctggccGtggccgggcccctggagact	7	8	16	10	2	0	3	0	0	0	3	0	4	0	3	4	4	1	2	4	4	2	2	rs781462439		C3L-00095_TP	C3L-00095_NB	G	G																c.637C>A	p.=	p.R213R	ENST00000427120	5/5	243	228	15	282	282	0	strelka-varscan-mutect	ABCC5,synonymous_variant,p.=,ENST00000427120,;ABCC5,intron_variant,,ENST00000334444,NM_005688.2;ABCC5,intron_variant,,ENST00000265586,;ABCC5,intron_variant,,ENST00000382494,NM_001023587.1;ABCC5,intron_variant,,ENST00000392579,;ABCC5,downstream_gene_variant,,ENST00000437341,;ABCC5,upstream_gene_variant,,ENST00000492216,;ABCC5,intron_variant,,ENST00000437205,NM_001320032.1;ABCC5,intron_variant,,ENST00000443376,;ABCC5,downstream_gene_variant,,ENST00000438979,;	T	ENST00000427120	Transcript	synonymous_variant	726/4697	637/696	213/231	R	Cgg/Agg	rs781462439	1		-1	ABCC5	HGNC	HGNC:56	protein_coding			ENSP00000404809		A5PKY6	UPI000020A881				5/5																			LOW		SNV	1			1										PASS		rs781462439	.												T	2	4	10	183987724	183987724	G	T	1	0	0	0	0	0	0	0	1	60	1144	40	1		1	ABCC5	3	183987724	Silent	SNP	G	C3L-00095_TP	10382863	183987724	14307835	207	3588											
DVL3	0	.	GRCh38	chr3	184164830	184164830	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaactgcgaagggggaacgGcggcgagaaccagggggtta	11	3	20	7	4	0	1	0	0	0	1	0	5	0	3	1	7	4	1	1	7	5	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.498G>T	p.=	p.R166R	ENST00000313143	5/15	205	194	11	265	265	0	strelka-varscan-mutect	DVL3,synonymous_variant,p.=,ENST00000313143,NM_004423.3;DVL3,synonymous_variant,p.=,ENST00000431765,;DVL3,synonymous_variant,p.=,ENST00000423300,;DVL3,non_coding_transcript_exon_variant,,ENST00000462665,;DVL3,non_coding_transcript_exon_variant,,ENST00000478247,;DVL3,non_coding_transcript_exon_variant,,ENST00000467873,;DVL3,downstream_gene_variant,,ENST00000435708,;DVL3,upstream_gene_variant,,ENST00000478639,;	T	ENST00000313143	Transcript	synonymous_variant	746/5254	498/2151	166/716	R	cgG/cgT		1		1	DVL3	HGNC	HGNC:3087	protein_coding	YES	CCDS3253.1	ENSP00000316054	Q92997		UPI00001299A9	NM_004423.3			5/15		Pfam_domain:PF02377,hmmpanther:PTHR10878,hmmpanther:PTHR10878:SF6																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	184164830	184164830	G	T	1	0	0	0	0	0	0	0	1	4659	1190	42	2		2	DVL3	3	184164830	Silent	SNP	G	C3L-00095_TP	177106	184164830	14130729	208	3589											
DGKG	0	.	GRCh38	chr3	186288782	186288782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatccttcaggtataccaCtggggattccgagcttgaag	11	10	10	10	1	1	1	1	1	0	0	3	3	3	2	3	3	3	2	3	3	4	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.472G>T	p.Val158Leu	p.V158L	ENST00000265022	6/25	194	178	16	265	265	0	strelka-varscan-mutect	DGKG,missense_variant,p.Val158Leu,ENST00000265022,NM_001346.2;DGKG,missense_variant,p.Val158Leu,ENST00000344484,NM_001080744.1;DGKG,missense_variant,p.Val158Leu,ENST00000382164,NM_001080745.1;DGKG,non_coding_transcript_exon_variant,,ENST00000480809,;	A	ENST00000265022	Transcript	missense_variant	1012/5805	472/2376	158/791	V/L	Gtg/Ttg		1		-1	DGKG	HGNC	HGNC:2853	protein_coding	YES	CCDS3274.1	ENSP00000265022	P49619		UPI000013D5AB	NM_001346.2	tolerated(0.27)		6/25		Low_complexity_(Seg):seg,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF36,Gene3D:1tuzA00,Pfam_domain:PF14513,Superfamily_domains:SSF47473,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	186288782	186288782	C	A	1	0	0	0	0	1	0	0	0	4275	565	20	2		2	DGKG	3	186288782	Missense_Mutation	SNP	C	C3L-00095_TP	2123952	186288782	12006777	209	3590											
KNG1	0	.	GRCh38	chr3	186739413	186739413	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgtcaaccactgggaaTggtatgattctaattacagt	13	12	8	8	0	2	1	1	1	1	0	2	2	2	2	1	2	3	1	1	2	6	4	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.1124T>C	p.Met375Thr	p.M375T	ENST00000265023	9/10	535	497	38	516	516	0	strelka-varscan-mutect	KNG1,missense_variant,p.Met375Thr,ENST00000265023,NM_001102416.2;KNG1,missense_variant,p.Met375Thr,ENST00000287611,NM_000893.3;KNG1,missense_variant,p.Met339Thr,ENST00000447445,NM_001166451.1;RP11-573D15.8,intron_variant,,ENST00000627551,;RP11-573D15.8,intron_variant,,ENST00000630864,;RP11-573D15.8,intron_variant,,ENST00000625303,;RP11-573D15.8,intron_variant,,ENST00000629126,;RP11-573D15.8,intron_variant,,ENST00000629106,;RP11-573D15.8,intron_variant,,ENST00000627830,;RP11-573D15.8,intron_variant,,ENST00000625710,;RP11-573D15.8,intron_variant,,ENST00000628253,;RP11-573D15.8,intron_variant,,ENST00000354642,;RP11-573D15.8,intron_variant,,ENST00000599314,;RP11-573D15.8,intron_variant,,ENST00000628601,;RP11-573D15.8,intron_variant,,ENST00000630178,;RP11-573D15.8,intron_variant,,ENST00000628858,;RP11-573D15.8,intron_variant,,ENST00000628505,;RP11-573D15.8,intron_variant,,ENST00000627015,;RP11-573D15.8,intron_variant,,ENST00000625741,;RP11-573D15.8,intron_variant,,ENST00000627268,;RP11-573D15.8,intron_variant,,ENST00000626845,;RP11-573D15.8,intron_variant,,ENST00000629451,;RP11-573D15.8,intron_variant,,ENST00000627469,;RP11-573D15.8,intron_variant,,ENST00000631299,;RP11-573D15.8,intron_variant,,ENST00000627919,;RP11-573D15.8,intron_variant,,ENST00000628020,;RP11-573D15.8,intron_variant,,ENST00000626151,;RP11-573D15.8,intron_variant,,ENST00000628190,;RP11-573D15.8,intron_variant,,ENST00000625386,;RP11-573D15.8,intron_variant,,ENST00000628831,;RP11-573D15.8,intron_variant,,ENST00000630331,;RP11-573D15.8,intron_variant,,ENST00000628728,;RP11-573D15.8,intron_variant,,ENST00000629734,;RP11-573D15.8,intron_variant,,ENST00000626633,;RP11-573D15.8,intron_variant,,ENST00000626306,;RP11-573D15.8,intron_variant,,ENST00000625839,;RP11-573D15.8,downstream_gene_variant,,ENST00000626586,;RP11-573D15.8,downstream_gene_variant,,ENST00000596329,;RP11-573D15.8,downstream_gene_variant,,ENST00000625690,;RP11-573D15.8,downstream_gene_variant,,ENST00000596632,;RP11-573D15.8,downstream_gene_variant,,ENST00000626978,;RP11-573D15.8,downstream_gene_variant,,ENST00000629201,;RP11-573D15.8,downstream_gene_variant,,ENST00000628928,;RP11-573D15.8,downstream_gene_variant,,ENST00000625869,;RP11-573D15.8,downstream_gene_variant,,ENST00000609726,;RP11-573D15.8,downstream_gene_variant,,ENST00000629954,;RP11-573D15.8,downstream_gene_variant,,ENST00000628291,;RP11-573D15.8,downstream_gene_variant,,ENST00000609652,;RP11-573D15.8,downstream_gene_variant,,ENST00000626520,;	C	ENST00000265023	Transcript	missense_variant,splice_region_variant	1336/3435	1124/1935	375/644	M/T	aTg/aCg		1		1	KNG1	HGNC	HGNC:6383	protein_coding	YES	CCDS43183.1	ENSP00000265023	P01042		UPI000013D5AC	NM_001102416.2	tolerated(0.44)		9/10		PROSITE_profiles:PS51647,hmmpanther:PTHR13814:SF12,hmmpanther:PTHR13814																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	10	186739413	186739413	T	C	1	0	0	0	0	1	0	0	0	8305	1478	51	5		5	KNG1	3	186739413	Missense_Mutation	SNP	T	C3L-00095_TP	450631	186739413	11556146	210	3591											
OPA1	0	.	GRCh38	chr3	193615690	193615690	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagacttttgatcagtggaAagatatgataccggacctta	13	13	9	6	1	1	4	1	2	0	2	1	6	1	6	2	2	1	0	2	2	5	6	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.368A>C	p.Lys123Thr	p.K123T	ENST00000361908	3/30	357	329	28	257	257	0	strelka-varscan-mutect	OPA1,missense_variant,p.Lys123Thr,ENST00000361510,NM_130837.2;OPA1,missense_variant,p.Lys123Thr,ENST00000361908,NM_130836.2;OPA1,missense_variant,p.Lys123Thr,ENST00000361715,NM_130835.2;OPA1,missense_variant,p.Lys123Thr,ENST00000361828,NM_130832.2,NM_130834.2;OPA1,missense_variant,p.Lys123Thr,ENST00000392438,NM_015560.2;OPA1,missense_variant,p.Lys123Thr,ENST00000361150,NM_130833.2,NM_130831.2;OPA1,missense_variant,p.Lys123Thr,ENST00000392436,;OPA1,missense_variant,p.Lys123Thr,ENST00000392437,;OPA1,missense_variant,p.Lys23Thr,ENST00000434811,;OPA1,5_prime_UTR_variant,,ENST00000419435,;OPA1-AS1,downstream_gene_variant,,ENST00000433105,;OPA1-AS1,downstream_gene_variant,,ENST00000444085,;OPA1,non_coding_transcript_exon_variant,,ENST00000487986,;OPA1,upstream_gene_variant,,ENST00000497189,;	C	ENST00000361908	Transcript	missense_variant	602/6439	368/2994	123/997	K/T	aAa/aCa		1		1	OPA1	HGNC	HGNC:8140	protein_coding	YES	CCDS33917.1	ENSP00000354681	O60313	E5KLJ7	UPI0000422960	NM_130836.2	deleterious(0)		3/30																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	193615690	193615690	A	C	1	0	0	0	0	1	0	0	0	10948	14	1	5		5	OPA1	3	193615690	Missense_Mutation	SNP	A	C3L-00095_TP	6876277	193615690	4679869	211	3592											
TNK2	0	.	GRCh38	chr3	195885006	195885006	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagtgatgaggtgggaactCagcctccagtcgctttccac	9	9	12	11	1	1	3	1	2	0	1	4	4	3	4	3	2	2	1	3	2	1	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.451G>C	p.Glu151Gln	p.E151Q	ENST00000381916	4/15	61	56	5	85	85	0	strelka-varscan-mutect	TNK2,missense_variant,p.Glu88Gln,ENST00000333602,NM_005781.4;TNK2,missense_variant,p.Glu120Gln,ENST00000428187,NM_001308046.1;TNK2,missense_variant,p.Glu151Gln,ENST00000381916,NM_001010938.1;TNK2,missense_variant,p.Glu88Gln,ENST00000433111,;TNK2,intron_variant,,ENST00000438207,;TNK2,downstream_gene_variant,,ENST00000427576,;MIR6829,upstream_gene_variant,,ENST00000620375,;TNK2,non_coding_transcript_exon_variant,,ENST00000468819,;TNK2,intron_variant,,ENST00000486523,;TNK2,missense_variant,p.Glu88Gln,ENST00000439230,;TNK2,missense_variant,p.Glu10Gln,ENST00000430929,;TNK2,3_prime_UTR_variant,,ENST00000447060,;TNK2,non_coding_transcript_exon_variant,,ENST00000481865,;TNK2,non_coding_transcript_exon_variant,,ENST00000464041,;	G	ENST00000381916	Transcript	missense_variant	596/4223	451/3261	151/1086	E/Q	Gag/Cag		1		-1	TNK2	HGNC	HGNC:19297	protein_coding	YES	CCDS33927.1	ENSP00000371341	Q07912		UPI00004C9B08	NM_001010938.1	tolerated(0.12)		4/15		hmmpanther:PTHR24418																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	10	195885006	195885006	C	G	1	0	0	0	0	1	0	0	0	16791	835	29	4		4	TNK2	3	195885006	Missense_Mutation	SNP	C	C3L-00095_TP	2269316	195885006	2410553	212	3593											
SENP5	0	.	GRCh38	chr3	196885434	196885434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctaagaccaagttcaatgtgGctactcaaaatgttagtact	14	12	7	8	0	2	1	2	0	0	1	2	1	2	1	1	1	2	4	1	1	8	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.253G>T	p.Ala85Ser	p.A85S	ENST00000323460	2/10	195	182	13	239	239	0	strelka-varscan-mutect	SENP5,missense_variant,p.Ala85Ser,ENST00000323460,NM_152699.4;SENP5,missense_variant,p.Ala85Ser,ENST00000445299,NM_001308045.1;SENP5,intron_variant,,ENST00000419026,;	T	ENST00000323460	Transcript	missense_variant	502/6308	253/2268	85/755	A/S	Gct/Tct		1		1	SENP5	HGNC	HGNC:28407	protein_coding	YES	CCDS3322.1	ENSP00000327197	Q96HI0		UPI00001AF3BE	NM_152699.4	tolerated_low_confidence(0.1)		2/10		hmmpanther:PTHR12606:SF10,hmmpanther:PTHR12606																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	196885434	196885434	G	T	1	0	0	0	0	1	0	0	0	14325	1203	42	2		2	SENP5	3	196885434	Missense_Mutation	SNP	G	C3L-00095_TP	1000428	196885434	1410125	213	3594											
CRMP1	0	.	GRCh38	chr4	5841330	5841330	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcctggccagagcgatGatgtcggctgcactcttgct	5	13	11	12	2	2	2	0	1	2	1	4	3	3	2	2	2	3	3	2	2	0	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1131C>A	p.=	p.I377I	ENST00000324989	8/14	358	339	19	433	432	1	strelka-varscan-mutect	CRMP1,synonymous_variant,p.=,ENST00000324989,NM_001288662.1,NM_001014809.2;CRMP1,synonymous_variant,p.=,ENST00000397890,NM_001313.4;CRMP1,synonymous_variant,p.=,ENST00000512574,NM_001288661.1;CRMP1,non_coding_transcript_exon_variant,,ENST00000511535,;CRMP1,non_coding_transcript_exon_variant,,ENST00000506216,;	T	ENST00000324989	Transcript	synonymous_variant	1220/3146	1131/2061	377/686	I	atC/atA		1		-1	CRMP1	HGNC	HGNC:2365	protein_coding	YES	CCDS33950.1	ENSP00000321606	Q14194	X5DNI1	UPI000020BA92	NM_001288662.1,NM_001014809.2			8/14		hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF54,Pfam_domain:PF01979,TIGRFAM_domain:TIGR02033,Gene3D:3.20.20.140,Superfamily_domains:SSF51556																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	5841330	5841330	G	T	1	0	0	0	0	0	0	0	1	3691	1280	45	2		2	CRMP1	4	5841330	Silent	SNP	G	C3L-00095_TP		5841330	184373225	214	3595											
LGI2	0	.	GRCh38	chr4	25003949	25003949	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgcgattttccatcgatAtcaacaaactccgcatccgt	12	11	6	12	4	1	1	1	0	0	1	5	3	4	1	3	0	3	1	3	0	3	3	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.1140T>C	p.=	p.D380D	ENST00000382114	8/8	141	133	8	200	200	0	strelka-varscan-mutect	LGI2,synonymous_variant,p.=,ENST00000382114,NM_018176.3;LGI2,intron_variant,,ENST00000512108,;	G	ENST00000382114	Transcript	synonymous_variant	1326/6428	1140/1638	380/545	D	gaT/gaC		1		-1	LGI2	HGNC	HGNC:18710	protein_coding	YES	CCDS3431.1	ENSP00000371548	Q8N0V4		UPI0000047256	NM_018176.3			8/8		PROSITE_profiles:PS50912,hmmpanther:PTHR24367:SF21,hmmpanther:PTHR24367,Pfam_domain:PF03736,Superfamily_domains:0049172																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	10	25003949	25003949	A	G	1	0	0	0	0	0	0	0	1	8662	446	16	5		5	LGI2	4	25003949	Silent	SNP	A	C3L-00095_TP	19162619	25003949	165210606	215	3596											
FAM114A1	0	.	GRCh38	chr4	38932267	38932267	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccattgaaagtctggcGgaggtaacagcgcgctgtat	9	10	13	9	4	1	1	0	1	1	0	3	2	2	2	1	3	2	3	1	3	3	3	rs145069128		C3L-00095_TP	C3L-00095_NB	G	G																c.1356G>C	p.=	p.A452A	ENST00000358869	12/15	164	153	11	184	184	0	strelka-varscan-mutect	FAM114A1,synonymous_variant,p.=,ENST00000358869,NM_138389.2;FAM114A1,synonymous_variant,p.=,ENST00000515037,;FAM114A1,upstream_gene_variant,,ENST00000513966,;FAM114A1,non_coding_transcript_exon_variant,,ENST00000508737,;FAM114A1,downstream_gene_variant,,ENST00000512889,;	C	ENST00000358869	Transcript	synonymous_variant	1532/4050	1356/1692	452/563	A	gcG/gcC	rs145069128	1		1	FAM114A1	HGNC	HGNC:25087	protein_coding	YES	CCDS3447.1	ENSP00000351740	Q8IWE2	A0A024R9V7	UPI00001DFE17	NM_138389.2			12/15		hmmpanther:PTHR12842,hmmpanther:PTHR12842:SF4																	LOW	1	SNV	1			1										PASS		rs145069128	.												C	2	2	10	38932267	38932267	G	C	1	0	0	0	0	0	0	0	1	5266	1103	39	4		4	FAM114A1	4	38932267	Silent	SNP	G	C3L-00095_TP	13928318	38932267	151282288	216	3597											
GABRA4	0	.	GRCh38	chr4	46965107	46965107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagcaaactcgataagggCcgaaaatacaaaagcaaagc	20	3	9	9	2	0	0	0	0	0	0	1	2	0	0	1	1	6	3	1	1	8	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.997G>T	p.Ala333Ser	p.A333S	ENST00000264318	8/9	168	158	10	208	208	0	strelka-varscan-mutect	GABRA4,missense_variant,p.Ala333Ser,ENST00000264318,NM_000809.3,NM_001204266.1;GABRA4,3_prime_UTR_variant,,ENST00000508560,;GABRA4,3_prime_UTR_variant,,ENST00000511523,;	A	ENST00000264318	Transcript	missense_variant	1980/11973	997/1665	333/554	A/S	Gcc/Tcc		1		-1	GABRA4	HGNC	HGNC:4078	protein_coding	YES	CCDS3473.1	ENSP00000264318	P48169	X5D7F5	UPI0000074200	NM_000809.3,NM_001204266.1	deleterious(0.01)		8/9		Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF393,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Gene3D:1.20.58.390,Superfamily_domains:SSF90112,Prints_domain:PR00253																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	46965107	46965107	C	A	1	0	0	0	0	1	0	0	0	6034	739	26	2		2	GABRA4	4	46965107	Missense_Mutation	SNP	C	C3L-00095_TP	8032840	46965107	143249448	217	3598											
KIAA1211	0	.	GRCh38	chr4	56315188	56315188	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccccgtgacgcccgcaaaGgacacggggctcaccgctgc	8	3	13	17	5	1	1	1	1	0	0	1	2	1	2	4	3	2	3	4	3	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1686G>C	p.Lys562Asn	p.K562N	ENST00000504228	6/9	159	140	19	206	206	0	strelka-varscan-mutect	KIAA1211,missense_variant,p.Lys562Asn,ENST00000504228,;KIAA1211,missense_variant,p.Lys555Asn,ENST00000541073,;KIAA1211,missense_variant,p.Lys562Asn,ENST00000264229,NM_020722.1;KIAA1211,downstream_gene_variant,,ENST00000636006,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;	C	ENST00000504228	Transcript	missense_variant	1791/4628	1686/3702	562/1233	K/N	aaG/aaC		1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309		deleterious(0)		6/9																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	10	56315188	56315188	G	C	1	0	0	0	0	1	0	0	0	8107	991	35	4		4	KIAA1211	4	56315188	Missense_Mutation	SNP	G	C3L-00095_TP	9350081	56315188	133899367	218	3599											
SRP72	0	.	GRCh38	chr4	56501837	56501837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagcaacagaaaaagaaGaaaggtggaaaaggtggctg	21	3	13	4	0	0	3	0	0	0	3	0	4	0	4	0	4	3	2	0	4	8	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1992G>T	p.Lys664Asn	p.K664N	ENST00000342756	19/19	259	230	29	324	324	0	strelka-varscan-mutect	SRP72,missense_variant,p.Lys664Asn,ENST00000342756,NM_006947.3;SRP72,missense_variant,p.Lys603Asn,ENST00000510663,NM_001267722.1;ARL9,upstream_gene_variant,,ENST00000360096,NM_206919.1;SRP72,non_coding_transcript_exon_variant,,ENST00000507126,;	T	ENST00000342756	Transcript	missense_variant	2713/3983	1992/2016	664/671	K/N	aaG/aaT		1		1	SRP72	HGNC	HGNC:11303	protein_coding	YES	CCDS3506.1	ENSP00000342181	O76094	V9HWK0	UPI000013EEB0	NM_006947.3	tolerated_low_confidence(0.1)		19/19		Low_complexity_(Seg):seg,hmmpanther:PTHR14094:SF9,hmmpanther:PTHR14094,PIRSF_domain:PIRSF038922																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	56501837	56501837	G	T	1	0	0	0	0	1	0	0	0	15518	933	33	2		2	SRP72	4	56501837	Missense_Mutation	SNP	G	C3L-00095_TP	186649	56501837	133712718	219	3600											
ADGRL3	0	.	GRCh38	chr4	61892937	61892937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggacagatagcaaagcagCcatgccctgcaggaactata	16	5	10	10	0	0	1	0	0	0	1	0	3	0	3	2	2	6	3	2	2	6	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1558C>A	p.Pro520Thr	p.P520T	ENST00000514591	9/25	14	11	3	31	31	0	strelka-mutect	ADGRL3,missense_variant,p.Pro520Thr,ENST00000512091,NM_001322246.1;ADGRL3,missense_variant,p.Pro520Thr,ENST00000514591,NM_015236.4;ADGRL3,missense_variant,p.Pro588Thr,ENST00000509896,;ADGRL3,missense_variant,p.Pro588Thr,ENST00000511324,;ADGRL3,missense_variant,p.Pro588Thr,ENST00000508693,;ADGRL3,missense_variant,p.Pro588Thr,ENST00000507164,;ADGRL3,missense_variant,p.Pro588Thr,ENST00000506720,;ADGRL3,missense_variant,p.Pro588Thr,ENST00000506746,;ADGRL3,missense_variant,p.Pro588Thr,ENST00000507625,;ADGRL3,missense_variant,p.Pro520Thr,ENST00000506700,;ADGRL3,missense_variant,p.Pro520Thr,ENST00000504896,;ADGRL3,missense_variant,p.Pro520Thr,ENST00000514157,;ADGRL3,missense_variant,p.Pro520Thr,ENST00000508946,;ADGRL3,missense_variant,p.Pro520Thr,ENST00000514996,;ADGRL3,upstream_gene_variant,,ENST00000502815,;	A	ENST00000514591	Transcript	missense_variant	1887/6297	1558/4410	520/1469	P/T	Cca/Aca		1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4	deleterious(0)		9/25		PROSITE_profiles:PS50227,Pfam_domain:PF02793,SMART_domains:SM00008																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	61892937	61892937	C	A	1	0	0	0	0	1	0	0	0	377	739	26	2		2	ADGRL3	4	61892937	Missense_Mutation	SNP	C	C3L-00095_TP	5391100	61892937	128321618	220	3601											
TECRL	0	.	GRCh38	chr4	64280148	64280148	+	Frame_Shift_Del	DEL	T	T	-																															tcagataaatcttatgtttcTtttgtgcccacaaagacatc																								novel		C3L-00095_TP	C3L-00095_NB	T	T																c.1016delA	p.Lys339ArgfsTer7	p.K339Rfs*7	ENST00000381210	12/12	175	157	18	92	92	0	sindel-varindel-pindel	TECRL,frameshift_variant,p.Lys339ArgfsTer7,ENST00000381210,NM_001010874.4;TECRL,3_prime_UTR_variant,,ENST00000511997,;TECRL,intron_variant,,ENST00000507440,;	-	ENST00000381210	Transcript	frameshift_variant	1127/3573	1016/1092	339/363	K/X	aAg/ag		1		-1	TECRL	HGNC	HGNC:27365	protein_coding	YES	CCDS33990.1	ENSP00000370607	Q5HYJ1		UPI0000141A54	NM_001010874.4			12/12		Pfam_domain:PF02544,hmmpanther:PTHR10556,hmmpanther:PTHR10556:SF27																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	10	64280148	64280148	T	-	1	0	1	0	1	0	0	0	0	16157	1609	56	0		0	TECRL	4	64280148	Frame_Shift_Del	DEL	T	C3L-00095_TP	2387211	64280148	125934407	221	3602											
STAP1	0	.	GRCh38	chr4	67581334	67581334	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccaaaacgtgtcactcctAcctgggcaagtaattaaact	13	9	6	13	1	1	0	1	0	0	0	2	0	2	0	4	1	3	2	4	1	7	3	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.393A>C	p.=	p.L131L	ENST00000265404	5/9	91	84	7	121	121	0	strelka-varscan-mutect	STAP1,synonymous_variant,p.=,ENST00000265404,NM_012108.2;STAP1,synonymous_variant,p.=,ENST00000396225,NM_001317769.1;	C	ENST00000265404	Transcript	synonymous_variant	475/1511	393/888	131/295	L	ctA/ctC		1		1	STAP1	HGNC	HGNC:24133	protein_coding	YES	CCDS3515.1	ENSP00000265404	Q9ULZ2	A0A024RD91	UPI0000073E6C	NM_012108.2			5/9		hmmpanther:PTHR16186,hmmpanther:PTHR16186:SF10,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	10	67581334	67581334	A	C	1	0	0	0	0	0	0	0	1	15627	378	14	5		5	STAP1	4	67581334	Silent	SNP	A	C3L-00095_TP	3301186	67581334	122633221	222	3603											
UGT2B7	0	.	GRCh38	chr4	69107240	69107240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatactcggctctacaagtgGataccccagaatgaccttct	12	10	7	12	1	2	2	0	1	2	1	3	3	2	3	3	2	3	1	3	2	6	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1068G>T	p.Trp356Cys	p.W356C	ENST00000305231	4/6	235	223	12	235	235	0	varscan-mutect	UGT2B7,missense_variant,p.Trp356Cys,ENST00000305231,NM_001074.2;UGT2B7,missense_variant,p.Trp356Cys,ENST00000508661,;UGT2B7,missense_variant,p.Trp107Cys,ENST00000502942,;UGT2B7,intron_variant,,ENST00000622664,;UGT2B7,non_coding_transcript_exon_variant,,ENST00000509763,;	T	ENST00000305231	Transcript	missense_variant	1114/1887	1068/1590	356/529	W/C	tgG/tgT		1		1	UGT2B7	HGNC	HGNC:12554	protein_coding	YES	CCDS3526.1	ENSP00000304811	P16662		UPI00000015EC	NM_001074.2	deleterious(0)		4/6		hmmpanther:PTHR11926:SF382,hmmpanther:PTHR11926,PROSITE_patterns:PS00375,Gene3D:3.40.50.2000,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	69107240	69107240	G	T	1	0	0	0	0	1	0	0	0	17486	1183	41	2		2	UGT2B7	4	69107240	Missense_Mutation	SNP	G	C3L-00095_TP	1525906	69107240	121107315	223	3604											
CABS1	0	.	GRCh38	chr4	70335740	70335740	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattccagacataactgcccTtgaagaagagaaaataaccg	17	8	7	9	1	0	4	0	1	0	3	1	5	1	4	3	0	3	0	3	0	7	5	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.701T>A	p.Leu234His	p.L234H	ENST00000273936	1/2	235	221	14	290	290	0	strelka-varscan-mutect	CABS1,missense_variant,p.Leu234His,ENST00000273936,NM_033122.3;	A	ENST00000273936	Transcript	missense_variant	775/1532	701/1188	234/395	L/H	cTt/cAt		1		1	CABS1	HGNC	HGNC:30710	protein_coding	YES	CCDS3539.1	ENSP00000273936	Q96KC9		UPI0000071735	NM_033122.3	deleterious(0.04)		1/2		Pfam_domain:PF15367,hmmpanther:PTHR22810																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	70335740	70335740	T	A	1	0	0	0	0	1	0	0	0	2222	1609	56	4		4	CABS1	4	70335740	Missense_Mutation	SNP	T	C3L-00095_TP	1228500	70335740	119878815	224	3605											
ABCG2	0	.	GRCh38	chr4	88121634	88121634	+	Splice_Site	SNP	C	C	A																															taatgtttccagagcatttaCcttttcaggagcaaaaggac																								rs757389397		C3L-00095_TP	C3L-00095_NB	C	C																c.689+1G>T		p.X230_splice	ENST00000237612		96	90	6	101	99	2	strelka-mutect	ABCG2,splice_donor_variant,,ENST00000237612,NM_004827.2;ABCG2,splice_donor_variant,,ENST00000515655,NM_001257386.1;	A	ENST00000237612	Transcript	splice_donor_variant	-/4479	689/1968	230/655			rs757389397	1		-1	ABCG2	HGNC	HGNC:74	protein_coding	YES	CCDS3628.1	ENSP00000237612	Q9UNQ0	A0A024RDD4	UPI0000001275	NM_004827.2				6/15																		HIGH	1	SNV	1			1										PASS		rs757389397	.												A	5	1	10	88121634	88121634	C	A	1	0	0	0	0	0	0	1	0	73	521	18	2		2	ABCG2	4	88121634	Splice_Site	SNP	C	C3L-00095_TP	17785894	88121634	102092921	225	3606	78	2									
ABCG2	0	.	GRCh38	chr4	88121635	88121635	+	Missense_Mutation	SNP	C	C	A																															aatgtttccagagcatttacCttttcaggagcaaaaggaca																								novel		C3L-00095_TP	C3L-00095_NB	C	C																c.689G>T	p.Arg230Met	p.R230M	ENST00000237612	6/16	98	93	5	105	105	0	strelka-varscan-mutect	ABCG2,missense_variant,p.Arg230Met,ENST00000237612,NM_004827.2;ABCG2,missense_variant,p.Arg230Met,ENST00000515655,NM_001257386.1;	A	ENST00000237612	Transcript	missense_variant,splice_region_variant	1235/4479	689/1968	230/655	R/M	aGg/aTg		1		-1	ABCG2	HGNC	HGNC:74	protein_coding	YES	CCDS3628.1	ENSP00000237612	Q9UNQ0	A0A024RDD4	UPI0000001275	NM_004827.2	deleterious(0)		6/16		Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF209,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	88121635	88121635	C	A	1	0	0	0	0	1	0	0	0	73	695	24	2		2	ABCG2	4	88121635	Missense_Mutation	SNP	C	C3L-00095_TP	1	88121635	102092920	226	3607	78	2									
GRID2	0	.	GRCh38	chr4	93515316	93515316	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaggactgaatccttttGagagggacagcatgtattcc	12	11	11	7	0	0	3	0	3	0	1	2	6	2	5	2	2	1	2	2	2	3	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2098G>T	p.Glu700Ter	p.E700*	ENST00000282020	13/16	211	188	23	271	271	0	strelka-varscan-mutect	GRID2,stop_gained,p.Glu700Ter,ENST00000282020,NM_001510.3;GRID2,stop_gained,p.Glu619Ter,ENST00000611049,;GRID2,stop_gained,p.Glu605Ter,ENST00000510992,NM_001286838.1;	T	ENST00000282020	Transcript	stop_gained	3133/6117	2098/3024	700/1007	E/*	Gag/Tag		1		1	GRID2	HGNC	HGNC:4576	protein_coding	YES	CCDS3637.1	ENSP00000282020	O43424		UPI00001AEA78	NM_001510.3			13/16		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF109,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	10	93515316	93515316	G	T	1	0	0	0	0	0	1	0	0	6652	1291	45	2		2	GRID2	4	93515316	Nonsense_Mutation	SNP	G	C3L-00095_TP	5393681	93515316	96699239	227	3608											
ANK2	0	.	GRCh38	chr4	113353196	113353196	+	Silent	SNP	T	T	C																															atcttgaccacagatgtgtcTgataaggcaggttctattaa																								novel		C3L-00095_TP	C3L-00095_NB	T	T																c.4578T>C	p.=	p.S1526S	ENST00000357077	38/46	305	285	20	317	317	0	strelka-varscan-mutect	ANK2,synonymous_variant,p.=,ENST00000357077,NM_001148.4;ANK2,synonymous_variant,p.=,ENST00000264366,;ANK2,synonymous_variant,p.=,ENST00000504454,;ANK2,synonymous_variant,p.=,ENST00000503423,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000612754,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	C	ENST00000357077	Transcript	synonymous_variant	4631/14196	4578/11874	1526/3957	S	tcT/tcC		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4			38/46		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	10	113353196	113353196	T	C	1	0	0	0	0	0	0	0	1	721	1567	55	5		5	ANK2	4	113353196	Silent	SNP	T	C3L-00095_TP	19837880	113353196	76861359	228	3609	79	2									
ANK2	0	.	GRCh38	chr4	113353197	113353197	+	Missense_Mutation	SNP	G	G	T																															tcttgaccacagatgtgtctGataaggcaggttctattaaa																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.4579G>T	p.Asp1527Tyr	p.D1527Y	ENST00000357077	38/46	303	283	20	315	314	1	strelka-varscan-mutect	ANK2,missense_variant,p.Asp1527Tyr,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Asp1494Tyr,ENST00000264366,;ANK2,missense_variant,p.Asp1542Tyr,ENST00000504454,;ANK2,missense_variant,p.Asp1440Tyr,ENST00000503423,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000612754,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	T	ENST00000357077	Transcript	missense_variant	4632/14196	4579/11874	1527/3957	D/Y	Gat/Tat		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	deleterious(0)		38/46		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	113353197	113353197	G	T	1	0	0	0	0	1	0	0	0	721	1290	45	2		2	ANK2	4	113353197	Missense_Mutation	SNP	G	C3L-00095_TP	1	113353197	76861358	229	3610	79	2									
ANK2	0	.	GRCh38	chr4	113354073	113354073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaagtcagagagacatGcgccagggtctccctcccct	8	8	10	15	1	3	3	1	1	2	2	5	4	4	3	4	1	1	0	4	1	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.5455G>T	p.Ala1819Ser	p.A1819S	ENST00000357077	38/46	164	150	14	184	184	0	strelka-varscan-mutect	ANK2,missense_variant,p.Ala1819Ser,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Ala1786Ser,ENST00000264366,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000612754,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	T	ENST00000357077	Transcript	missense_variant	5508/14196	5455/11874	1819/3957	A/S	Gcg/Tcg		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	tolerated_low_confidence(0.9)		38/46		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	113354073	113354073	G	T	1	0	0	0	0	1	0	0	0	721	1319	46	2		2	ANK2	4	113354073	Missense_Mutation	SNP	G	C3L-00095_TP	876	113354073	76860482	230	3611											
ANK2	0	.	GRCh38	chr4	113355276	113355276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctccgtgtggcagcctgatgGaggggacccctcagattagt	7	9	14	11	1	1	2	1	1	0	1	2	4	2	4	4	4	1	1	4	4	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.6658G>C	p.Glu2220Gln	p.E2220Q	ENST00000357077	38/46	131	121	10	210	210	0	strelka-varscan-mutect	ANK2,missense_variant,p.Glu2220Gln,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Glu2187Gln,ENST00000264366,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000612754,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	C	ENST00000357077	Transcript	missense_variant	6711/14196	6658/11874	2220/3957	E/Q	Gag/Cag		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	deleterious_low_confidence(0.01)		38/46		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	113355276	113355276	G	C	1	0	0	0	0	1	0	0	0	721	1175	41	4		4	ANK2	4	113355276	Missense_Mutation	SNP	G	C3L-00095_TP	1203	113355276	76859279	231	3612											
UGT8	0	.	GRCh38	chr4	114623292	114623292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatttgacctgctgctggtgGaccctaatgatatgtgtgga	9	13	12	7	0	0	2	0	2	0	0	0	4	0	4	2	3	2	2	2	3	3	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.412G>T	p.Asp138Tyr	p.D138Y	ENST00000310836	2/6	278	249	29	371	371	0	strelka-varscan-mutect	UGT8,missense_variant,p.Asp138Tyr,ENST00000310836,NM_001128174.1;UGT8,missense_variant,p.Asp138Tyr,ENST00000394511,NM_003360.3;UGT8,missense_variant,p.Asp138Tyr,ENST00000507710,;	T	ENST00000310836	Transcript	missense_variant	934/4084	412/1626	138/541	D/Y	Gac/Tac		1		1	UGT8	HGNC	HGNC:12555	protein_coding	YES	CCDS3705.1	ENSP00000311648	Q16880		UPI000013F094	NM_001128174.1	deleterious(0)		2/6		Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF313,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	114623292	114623292	G	T	1	0	0	0	0	1	0	0	0	17489	1174	41	2		2	UGT8	4	114623292	Missense_Mutation	SNP	G	C3L-00095_TP	1268016	114623292	75591263	232	3613											
SYNPO2	0	.	GRCh38	chr4	119057769	119057769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagccaataataatatGtccaccacctcccaatatgg	14	9	5	13	0	1	0	1	0	0	0	3	0	3	0	5	1	1	0	5	1	6	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.3621G>T	p.Met1207Ile	p.M1207I	ENST00000307142	5/5	420	379	41	436	436	0	strelka-varscan-mutect	SYNPO2,missense_variant,p.Met1207Ile,ENST00000307142,NM_133477.2;SYNPO2,missense_variant,p.Met1101Ile,ENST00000504178,;SYNPO2,missense_variant,p.Met1176Ile,ENST00000610556,NM_001286754.1;SYNPO2,3_prime_UTR_variant,,ENST00000448416,NM_001286755.1;	T	ENST00000307142	Transcript	missense_variant	3817/7295	3621/3786	1207/1261	M/I	atG/atT		1		1	SYNPO2	HGNC	HGNC:17732	protein_coding	YES	CCDS34054.1	ENSP00000306015	Q9UMS6		UPI00001D75EB	NM_133477.2	tolerated(0.61)		5/5																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	119057769	119057769	G	T	1	0	0	0	0	1	0	0	0	15851	1377	48	2		2	SYNPO2	4	119057769	Missense_Mutation	SNP	G	C3L-00095_TP	4434477	119057769	71156786	233	3614											
PRDM5	0	.	GRCh38	chr4	120799663	120799663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaagtatatagtttacctGagtgggtgatcatatgacgt	14	13	10	4	1	1	3	1	3	0	0	1	3	1	3	1	1	1	2	1	1	7	6	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1028C>T	p.Ser343Leu	p.S343L	ENST00000264808	9/16	179	168	11	94	94	0	strelka-varscan-mutect	PRDM5,missense_variant,p.Ser343Leu,ENST00000264808,NM_018699.3;PRDM5,missense_variant,p.Ser312Leu,ENST00000428209,NM_001300823.1;PRDM5,missense_variant,p.Ser312Leu,ENST00000515109,NM_001300824.1;PRDM5,splice_region_variant,,ENST00000505484,;PRDM5,splice_region_variant,,ENST00000502409,;PRDM5,splice_region_variant,,ENST00000503661,;	A	ENST00000264808	Transcript	missense_variant,splice_region_variant	1269/5330	1028/1893	343/630	S/L	tCa/tTa		1		-1	PRDM5	HGNC	HGNC:9349	protein_coding	YES	CCDS3716.1	ENSP00000264808	Q9NQX1		UPI000013D572	NM_018699.3	deleterious(0)		9/16		Gene3D:3.30.160.60,PIRSF_domain:PIRSF037162,PROSITE_profiles:PS50157,hmmpanther:PTHR24409,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	120799663	120799663	G	A	1	0	0	0	0	1	0	0	0	12591	1304	45	3		3	PRDM5	4	120799663	Missense_Mutation	SNP	G	C3L-00095_TP	1741894	120799663	69414892	234	3615											
PCDH10	0	.	GRCh38	chr4	133151031	133151031	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacatttcgccccgggcGcgggagcttttcggactctc	5	9	12	15	5	1	0	0	0	1	0	4	2	1	2	3	3	2	1	3	3	0	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.891G>T	p.=	p.A297A	ENST00000264360	1/5	297	269	28	338	336	2	strelka-varscan-mutect	PCDH10,synonymous_variant,p.=,ENST00000264360,NM_032961.2;PCDH10,synonymous_variant,p.=,ENST00000618019,NM_020815.2;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;PCDH10,upstream_gene_variant,,ENST00000511112,;	T	ENST00000264360	Transcript	synonymous_variant	1717/8489	891/3123	297/1040	A	gcG/gcT		1		1	PCDH10	HGNC	HGNC:13404	protein_coding	YES	CCDS34063.1	ENSP00000264360	Q9P2E7	X5D999	UPI0000161C61	NM_032961.2			1/5		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF0,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs1245308353	.												T	2	4	10	133151031	133151031	G	T	1	0	0	0	0	0	0	0	1	11594	1074	38	1		1	PCDH10	4	133151031	Silent	SNP	G	C3L-00095_TP	12351368	133151031	57063524	235	3616											
SLC7A11	0	.	GRCh38	chr4	138179280	138179280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagataatacgcagggaCtccagtcagagtgatgacga	16	6	12	7	2	1	4	1	2	0	2	2	7	2	5	1	1	1	1	1	1	3	2	rs775459597		C3L-00095_TP	C3L-00095_NB	C	C																c.1381G>A	p.Val461Ile	p.V461I	ENST00000280612	11/12	238	214	24	268	268	0	strelka-varscan-mutect	SLC7A11,missense_variant,p.Val461Ile,ENST00000280612,NM_014331.3;SLC7A11-AS1,downstream_gene_variant,,ENST00000510767,;SLC7A11-AS1,downstream_gene_variant,,ENST00000512786,;SLC7A11-AS1,downstream_gene_variant,,ENST00000512538,;SLC7A11,3_prime_UTR_variant,,ENST00000509248,;	T	ENST00000280612	Transcript	missense_variant	1661/9645	1381/1506	461/501	V/I	Gtc/Atc	rs775459597	1		-1	SLC7A11	HGNC	HGNC:11059	protein_coding	YES	CCDS3742.1	ENSP00000280612	Q9UPY5		UPI0000138FD5	NM_014331.3	tolerated(0.7)		11/12		PIRSF_domain:PIRSF006060,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF323,TIGRFAM_domain:TIGR00911,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs775459597	.												T	3	4	10	138179280	138179280	C	T	1	0	0	0	0	1	0	0	0	14977	565	20	3		3	SLC7A11	4	138179280	Missense_Mutation	SNP	C	C3L-00095_TP	5028249	138179280	52035275	236	3617											
NPY5R	0	.	GRCh38	chr4	163351030	163351030	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagacttgaagaaaatGagatgatcaacttaactctt	19	10	6	6	0	2	5	1	3	1	3	2	6	2	5	0	0	3	0	0	0	7	3	rs749896146		C3L-00095_TP	C3L-00095_NB	G	G																c.757G>T	p.Glu253Ter	p.E253*	ENST00000515560	4/4	245	214	31	247	247	0	strelka-varscan-mutect	NPY5R,stop_gained,p.Glu253Ter,ENST00000515560,NM_001317091.1;NPY5R,stop_gained,p.Glu253Ter,ENST00000338566,NM_006174.2;NPY5R,stop_gained,p.Glu253Ter,ENST00000506953,;	T	ENST00000515560	Transcript	stop_gained	2279/3183	757/1338	253/445	E/*	Gag/Tag	rs749896146	1		1	NPY5R	HGNC	HGNC:7958	protein_coding	YES	CCDS3804.1	ENSP00000423917	Q15761		UPI000000D9D7	NM_001317091.1			4/4		PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF217,hmmpanther:PTHR24242,Pfam_domain:PF00001,SMART_domains:SM01381,Prints_domain:PR01016																	HIGH	1	SNV	2			1										PASS		rs749896146	.												T	4	4	10	163351030	163351030	G	T	1	0	0	0	0	0	1	0	0	10666	1291	45	2		2	NPY5R	4	163351030	Nonsense_Mutation	SNP	G	C3L-00095_TP	25171750	163351030	26863525	237	3618											
KLHL2	0	.	GRCh38	chr4	165310603	165310603	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttggtggctttaatggcTcattaagagttcgcactgta	8	15	11	7	1	1	1	1	0	0	1	2	1	1	1	0	3	0	6	0	3	3	6	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.1102T>C	p.Ser368Pro	p.S368P	ENST00000514860	10/15	421	386	35	489	489	0	strelka-varscan-mutect	KLHL2,missense_variant,p.Ser364Pro,ENST00000226725,NM_007246.3;KLHL2,missense_variant,p.Ser276Pro,ENST00000538127,NM_001161522.1;KLHL2,missense_variant,p.Ser267Pro,ENST00000421009,;KLHL2,missense_variant,p.Ser368Pro,ENST00000514860,NM_001161521.1;KLHL2,missense_variant,p.Ser198Pro,ENST00000506761,;KLHL2,non_coding_transcript_exon_variant,,ENST00000509028,;KLHL2,non_coding_transcript_exon_variant,,ENST00000506541,;KLHL2,3_prime_UTR_variant,,ENST00000506824,;	C	ENST00000514860	Transcript	missense_variant	1352/2442	1102/1794	368/597	S/P	Tca/Cca		1		1	KLHL2	HGNC	HGNC:6353	protein_coding	YES	CCDS54815.1	ENSP00000424198	O95198		UPI0000E20649	NM_001161521.1	deleterious(0.03)		10/15		hmmpanther:PTHR24412:SF155,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	10	165310603	165310603	T	C	1	0	0	0	0	1	0	0	0	8238	1551	54	5		5	KLHL2	4	165310603	Missense_Mutation	SNP	T	C3L-00095_TP	1959573	165310603	24903952	238	3619											
TENM3	0	.	GRCh38	chr4	182346759	182346759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaggttactctatcagtgCagggtcagatgctgatactg	10	11	12	8	0	3	3	2	1	1	2	3	3	3	3	0	2	4	3	0	2	3	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.341C>A	p.Ala114Glu	p.A114E	ENST00000511685	3/28	266	245	21	301	299	2	strelka-varscan-mutect	TENM3,missense_variant,p.Ala114Glu,ENST00000511685,NM_001080477.2;TENM3,missense_variant,p.Ala114Glu,ENST00000512480,;TENM3,non_coding_transcript_exon_variant,,ENST00000513201,;	A	ENST00000511685	Transcript	missense_variant	464/10896	341/8100	114/2699	A/E	gCa/gAa		1		1	TENM3	HGNC	HGNC:29944	protein_coding	YES	CCDS47165.1	ENSP00000424226	Q9P273	A0A140VJW8	UPI00006C0820	NM_001080477.2	tolerated_low_confidence(0.22)		3/28		Pfam_domain:PF06484,PROSITE_profiles:PS51361,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	182346759	182346759	C	A	1	0	0	0	0	1	0	0	0	16173	710	25	2		2	TENM3	4	182346759	Missense_Mutation	SNP	C	C3L-00095_TP	17036156	182346759	7867796	239	3620											
TENM3	0	.	GRCh38	chr4	182799850	182799850	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgctcaacaacgccttctaCctggagaacctgcacttcac	10	9	7	15	1	3	1	2	0	1	1	3	2	3	1	3	1	6	2	3	1	4	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.7599C>T	p.=	p.Y2533Y	ENST00000511685	28/28	322	297	25	539	538	1	strelka-varscan-mutect	TENM3,synonymous_variant,p.=,ENST00000511685,NM_001080477.2;	T	ENST00000511685	Transcript	synonymous_variant	7722/10896	7599/8100	2533/2699	Y	taC/taT		1		1	TENM3	HGNC	HGNC:29944	protein_coding	YES	CCDS47165.1	ENSP00000424226	Q9P273	A0A140VJW8	UPI00006C0820	NM_001080477.2			28/28		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	10	182799850	182799850	C	T	1	0	0	0	0	0	0	0	1	16173	518	18	3		3	TENM3	4	182799850	Silent	SNP	C	C3L-00095_TP	453091	182799850	7414705	240	3621											
FAT1	0	.	GRCh38	chr4	186706747	186706747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacacgggtgggtgcaggttCtcattcacatcaaccacctc	10	9	9	13	1	3	0	3	0	1	0	5	0	3	0	2	3	3	2	2	3	2	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.3081G>A	p.=	p.E1027E	ENST00000441802	2/27	184	167	17	234	234	0	strelka-varscan-mutect	FAT1,synonymous_variant,p.=,ENST00000441802,NM_005245.3;FAT1,synonymous_variant,p.=,ENST00000614102,;FAT1,downstream_gene_variant,,ENST00000509647,;	T	ENST00000441802	Transcript	synonymous_variant	3291/14786	3081/13767	1027/4588	E	gaG/gaA		1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3			2/27		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,Low_complexity_(Seg):seg,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	10	186706747	186706747	C	T	1	0	0	0	0	0	0	0	1	5549	912	32	3		3	FAT1	4	186706747	Silent	SNP	C	C3L-00095_TP	3906897	186706747	3507808	241	3622											
SLC6A18	0	.	GRCh38	chr5	1244242	1244242	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggtctgcttcctctcCgccacctgcttcacgctgca	3	12	8	18	2	3	0	1	0	2	0	5	0	4	0	5	1	4	4	5	1	0	2	rs144703302		C3L-00095_TP	C3L-00095_NB	C	C																c.1365C>G	p.=	p.S455S	ENST00000324642	10/12	115	107	8	163	163	0	strelka-varscan-mutect	SLC6A18,synonymous_variant,p.=,ENST00000324642,NM_182632.2;	G	ENST00000324642	Transcript	synonymous_variant	1488/2121	1365/1887	455/628	S	tcC/tcG	rs144703302	1		1	SLC6A18	HGNC	HGNC:26441	protein_coding	YES	CCDS3860.1	ENSP00000323549	Q96N87		UPI0000197EA2	NM_182632.2			10/12		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF109,Pfam_domain:PF00209,Superfamily_domains:0053687																	LOW	1	SNV	1			1										PASS		rs144703302	.												G	2	3	10	1244242	1244242	C	G	1	0	0	0	0	0	0	0	1	14964	639	23	4		4	SLC6A18	5	1244242	Silent	SNP	C	C3L-00095_TP		1244242	180294017	242	3623											
TERT	0	.	GRCh38	chr5	1279418	1279418	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggggcgccgcgcccgcTcgtagttgagcacgctgaac	5	5	16	15	7	0	2	0	2	0	0	1	2	0	2	3	3	2	5	3	3	2	2	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.2003A>T	p.Glu668Val	p.E668V	ENST00000310581	5/16	190	170	20	245	245	0	strelka-varscan-mutect	TERT,missense_variant,p.Glu668Val,ENST00000310581,NM_198253.2;TERT,missense_variant,p.Glu668Val,ENST00000334602,NM_001193376.1;TERT,missense_variant,p.Glu668Val,ENST00000508104,;TERT,missense_variant,p.Glu668Val,ENST00000460137,;TERT,non_coding_transcript_exon_variant,,ENST00000484238,;	A	ENST00000310581	Transcript	missense_variant	2061/4018	2003/3399	668/1132	E/V	gAg/gTg		1		-1	TERT	HGNC	HGNC:11730	protein_coding	YES	CCDS3861.2	ENSP00000309572	O14746		UPI0000031309	NM_198253.2	deleterious(0)		5/16		PROSITE_profiles:PS50878,hmmpanther:PTHR12066,hmmpanther:PTHR12066:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	1279418	1279418	T	A	1	0	0	0	0	1	0	0	0	16183	1551	54	4		4	TERT	5	1279418	Missense_Mutation	SNP	T	C3L-00095_TP	35176	1279418	180258841	243	3624											
LPCAT1	0	.	GRCh38	chr5	1466876	1466876	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgccgacgctgccgtcctcTtgcgctccgtacatctgcaa	5	10	9	17	6	2	0	0	0	2	0	5	1	4	0	4	0	4	4	4	0	2	2	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.1293A>G	p.=	p.Q431Q	ENST00000283415	13/14	106	94	12	116	116	0	strelka-varscan-mutect	LPCAT1,synonymous_variant,p.=,ENST00000283415,NM_024830.3;LPCAT1,non_coding_transcript_exon_variant,,ENST00000503252,;LPCAT1,synonymous_variant,p.=,ENST00000475622,;	C	ENST00000283415	Transcript	synonymous_variant	1426/3966	1293/1605	431/534	Q	caA/caG		1		-1	LPCAT1	HGNC	HGNC:25718	protein_coding	YES	CCDS3864.1	ENSP00000283415	Q8NF37		UPI000004771C	NM_024830.3			13/14		hmmpanther:PTHR23063:SF11,hmmpanther:PTHR23063,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	10	1466876	1466876	T	C	1	0	0	0	0	0	0	0	1	8813	1606	56	5		5	LPCAT1	5	1466876	Silent	SNP	T	C3L-00095_TP	187458	1466876	180071383	244	3625											
SRD5A1	0	.	GRCh38	chr5	6662871	6662871	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttggagaaatcatggagtgGtgtggctatgccctggccag	8	11	15	7	0	1	1	1	0	0	1	1	3	1	2	2	5	1	1	2	5	2	2	rs757174529		C3L-00095_TP	C3L-00095_NB	G	G																c.618G>C	p.Trp206Cys	p.W206C	ENST00000274192	4/5	308	288	20	350	350	0	strelka-varscan-mutect	SRD5A1,missense_variant,p.Trp206Cys,ENST00000274192,NM_001047.2;SRD5A1,3_prime_UTR_variant,,ENST00000510531,;SRD5A1,3_prime_UTR_variant,,ENST00000513117,;	C	ENST00000274192	Transcript	missense_variant	852/7132	618/780	206/259	W/C	tgG/tgC	rs757174529,COSM3947678	1		1	SRD5A1	HGNC	HGNC:11284	protein_coding	YES	CCDS3870.1	ENSP00000274192	P18405		UPI00000534C8	NM_001047.2	deleterious(0)		4/5		PROSITE_profiles:PS50244,hmmpanther:PTHR10556:SF41,hmmpanther:PTHR10556,Pfam_domain:PF02544,PIRSF_domain:PIRSF015596											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs757174529	.												C	3	2	10	6662871	6662871	G	C	1	0	0	0	0	1	0	0	0	15495	1270	44	4		4	SRD5A1	5	6662871	Missense_Mutation	SNP	G	C3L-00095_TP	5195995	6662871	174875388	245	3626											
SEMA5A	0	.	GRCh38	chr5	9044497	9044497	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattgctgctggtaccgcTggcagtaagtatagacgagc	9	9	15	8	2	0	1	0	0	0	1	0	3	0	2	1	3	4	7	1	3	4	5	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.2981A>T	p.Gln994Leu	p.Q994L	ENST00000382496	22/23	453	382	71	466	466	0	strelka-varscan-mutect	SEMA5A,missense_variant,p.Gln994Leu,ENST00000382496,NM_003966.2;CTD-2215L10.1,intron_variant,,ENST00000506519,;	A	ENST00000382496	Transcript	missense_variant	3647/11762	2981/3225	994/1074	Q/L	cAg/cTg		1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2	deleterious(0.05)		22/23		hmmpanther:PTHR11036:SF78,hmmpanther:PTHR11036																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	9044497	9044497	T	A	1	0	0	0	0	1	0	0	0	14313	1580	55	4		4	SEMA5A	5	9044497	Missense_Mutation	SNP	T	C3L-00095_TP	2381626	9044497	172493762	246	3627											
ANKRD33B	0	.	GRCh38	chr5	10649799	10649799	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccggcctccctcccgccCtggggtcccggggccccgca	2	4	14	21	4	0	0	0	0	0	0	3	1	3	0	8	5	1	1	8	5	0	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1171C>T	p.=	p.L391L	ENST00000296657	4/4	34	28	6	31	31	0	strelka-varscan-mutect	ANKRD33B,synonymous_variant,p.=,ENST00000296657,NM_001164440.1;ANKRD33B,downstream_gene_variant,,ENST00000504806,;RP11-54F2.1,downstream_gene_variant,,ENST00000508690,;	T	ENST00000296657	Transcript	synonymous_variant	1171/9188	1171/1485	391/494	L	Ctg/Ttg		1		1	ANKRD33B	HGNC	HGNC:35240	protein_coding	YES	CCDS47191.1	ENSP00000296657	A6NCL7		UPI00001D7EE7	NM_001164440.1			4/4		hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF1																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	10	10649799	10649799	C	T	1	0	0	0	0	0	0	0	1	766	680	24	3		3	ANKRD33B	5	10649799	Silent	SNP	C	C3L-00095_TP	1605302	10649799	170888460	247	3628											
CTNND2	0	.	GRCh38	chr5	11098750	11098750	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcctactccatcccacTggcggaagaaaaacaagaga	15	5	10	11	1	0	2	0	0	0	2	3	5	3	3	3	3	2	0	3	3	5	1	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.2464-2A>T		p.X822_splice	ENST00000304623		124	114	10	165	165	0	strelka-varscan-mutect	CTNND2,splice_acceptor_variant,,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,splice_acceptor_variant,,ENST00000511377,NM_001288715.1;CTNND2,splice_acceptor_variant,,ENST00000503622,NM_001288716.1;CTNND2,splice_acceptor_variant,,ENST00000458100,;CTNND2,splice_acceptor_variant,,ENST00000495388,;CTNND2,splice_acceptor_variant,,ENST00000513588,;CTNND2,splice_acceptor_variant,,ENST00000504499,;	A	ENST00000304623	Transcript	splice_acceptor_variant	-/5481	2464/3678	822/1225				1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1				14/21																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	10	11098750	11098750	T	A	1	0	0	0	0	0	0	1	0	3829	1594	55	4		4	CTNND2	5	11098750	Splice_Site	SNP	T	C3L-00095_TP	448951	11098750	170439509	248	3629											
CTNND2	0	.	GRCh38	chr5	11159666	11159666	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaattttcccagcctgagTgggggataatcaccgcgttg	8	10	13	10	3	1	1	1	1	0	0	2	3	2	2	3	2	1	1	3	2	2	4	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.2069A>T	p.His690Leu	p.H690L	ENST00000304623	12/22	167	149	18	186	185	1	strelka-varscan-mutect	CTNND2,missense_variant,p.His690Leu,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.His599Leu,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.His353Leu,ENST00000503622,NM_001288716.1;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,missense_variant,p.His444Leu,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	A	ENST00000304623	Transcript	missense_variant	2259/5481	2069/3678	690/1225	H/L	cAc/cTc		1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	deleterious(0.02)		12/22		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,SMART_domains:SM00185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	11159666	11159666	T	A	1	0	0	0	0	1	0	0	0	3829	1696	59	4		4	CTNND2	5	11159666	Missense_Mutation	SNP	T	C3L-00095_TP	60916	11159666	170378593	249	3630											
CDH12	0	.	GRCh38	chr5	21751857	21751857	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcttctgtggtgagagaGtctatagagctgagggactc	8	11	15	7	1	2	4	0	2	2	2	4	6	2	5	0	3	1	2	0	3	2	3	rs761207356		C3L-00095_TP	C3L-00095_NB	G	G																c.2265C>T	p.=	p.D755D	ENST00000382254	15/15	394	360	34	496	496	0	strelka-varscan-mutect	CDH12,synonymous_variant,p.=,ENST00000382254,NM_004061.3;CDH12,synonymous_variant,p.=,ENST00000504376,;CDH12,synonymous_variant,p.=,ENST00000522262,;RP11-804N13.1,intron_variant,,ENST00000522350,;CDH12,non_coding_transcript_exon_variant,,ENST00000521384,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;	A	ENST00000382254	Transcript	synonymous_variant	3352/4164	2265/2385	755/794	D	gaC/gaT	rs761207356	1		-1	CDH12	HGNC	HGNC:1751	protein_coding	YES	CCDS3890.1	ENSP00000371689	P55289		UPI00000622EB	NM_004061.3			15/15		Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF96																	LOW	1	SNV	1			1										PASS		rs761207356	.												A	2	1	10	21751857	21751857	G	A	1	0	0	0	0	0	0	0	1	2801	1020	36	3		3	CDH12	5	21751857	Silent	SNP	G	C3L-00095_TP	10592191	21751857	159786402	250	3631											
CDH9	0	.	GRCh38	chr5	26886041	26886041	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaagaatttgtgacctcGgggagggtcatccttatcca	13	10	10	8	1	1	2	1	1	0	1	4	3	3	3	3	3	0	0	3	3	5	2			C3L-00095_TP	C3L-00095_NB	G	G																c.1555C>G	p.Arg519Gly	p.R519G	ENST00000231021	10/12	99	89	10	103	103	0	strelka-varscan-mutect	CDH9,missense_variant,p.Arg519Gly,ENST00000231021,NM_016279.3;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	C	ENST00000231021	Transcript	missense_variant	1728/3079	1555/2370	519/789	R/G	Cga/Gga	COSM5633368	1		-1	CDH9	HGNC	HGNC:1768	protein_coding	YES	CCDS3893.1	ENSP00000231021	Q9ULB4		UPI000013C945	NM_016279.3	tolerated(0.55)		10/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF99,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE	1	SNV	1		1	1										PASS		rs1257661796	.												C	3	2	10	26886041	26886041	G	C	1	0	0	0	0	1	0	0	0	2820	1124	39	4		4	CDH9	5	26886041	Missense_Mutation	SNP	G	C3L-00095_TP	5134184	26886041	154652218	251	3632											
DROSHA	0	.	GRCh38	chr5	31511108	31511108	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggccttttcttgcctgctCcccaactcctcctcaaattt	5	16	4	16	0	2	0	1	0	1	0	5	0	5	0	6	1	3	1	6	1	2	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1359G>T	p.=	p.G453G	ENST00000511367	8/35	206	194	12	213	213	0	strelka-varscan-mutect	DROSHA,synonymous_variant,p.=,ENST00000511367,NM_013235.4;DROSHA,synonymous_variant,p.=,ENST00000344624,;DROSHA,synonymous_variant,p.=,ENST00000442743,;DROSHA,synonymous_variant,p.=,ENST00000513349,NM_001100412.1;DROSHA,synonymous_variant,p.=,ENST00000512076,;DROSHA,downstream_gene_variant,,ENST00000512302,;	A	ENST00000511367	Transcript	synonymous_variant	1604/5305	1359/4125	453/1374	G	ggG/ggT		1		-1	DROSHA	HGNC	HGNC:17904	protein_coding	YES	CCDS47195.1	ENSP00000425979	Q9NRR4		UPI0000134351	NM_013235.4			8/35		hmmpanther:PTHR11207																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	31511108	31511108	C	A	1	0	0	0	0	0	0	0	1	4584	842	30	2		2	DROSHA	5	31511108	Silent	SNP	C	C3L-00095_TP	4625067	31511108	150027151	252	3633											
ADAMTS12	0	.	GRCh38	chr5	33624314	33624314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacaccgcagcgatcctcgGtggcattggaatcgatctca	10	8	10	13	4	1	0	1	0	1	0	5	3	2	1	2	3	1	2	2	3	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2060C>T	p.Thr687Ile	p.T687I	ENST00000504830	14/24	143	134	9	162	162	0	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Thr687Ile,ENST00000504830,NM_030955.2;ADAMTS12,intron_variant,,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000506952,;	A	ENST00000504830	Transcript	missense_variant	2396/8774	2060/4785	687/1594	T/I	aCc/aTc		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	tolerated(0.11)		14/24		Prints_domain:PR01857,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	33624314	33624314	G	A	1	0	0	0	0	1	0	0	0	301	1261	44	3		3	ADAMTS12	5	33624314	Missense_Mutation	SNP	G	C3L-00095_TP	2113206	33624314	147913945	253	3634											
SPEF2	0	.	GRCh38	chr5	35793209	35793209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactccgagttcgtggactgGcggaagttcctgttagtaac	9	11	12	9	3	0	0	0	0	0	0	3	3	2	2	2	3	2	4	2	3	4	4	rs755698487		C3L-00095_TP	C3L-00095_NB	G	G																c.4605G>T	p.Trp1535Cys	p.W1535C	ENST00000356031	32/37	127	113	14	169	169	0	strelka-varscan-mutect	SPEF2,missense_variant,p.Trp1530Cys,ENST00000440995,;SPEF2,missense_variant,p.Trp1535Cys,ENST00000356031,NM_024867.3;SPEF2,downstream_gene_variant,,ENST00000637569,;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,downstream_gene_variant,,ENST00000635995,;SPEF2,3_prime_UTR_variant,,ENST00000506526,;SPEF2,3_prime_UTR_variant,,ENST00000513078,;SPEF2,3_prime_UTR_variant,,ENST00000637061,;	T	ENST00000356031	Transcript	missense_variant	4759/5681	4605/5469	1535/1822	W/C	tgG/tgT	rs755698487,COSM5061065,COSM5061066	1		1	SPEF2	HGNC	HGNC:26293	protein_coding	YES	CCDS43309.1	ENSP00000348314	Q9C093	A0A140VKD0	UPI0001505B9F	NM_024867.3	deleterious(0.04)		32/37		hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0,Superfamily_domains:SSF47473											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs755698487	.												T	3	4	10	35793209	35793209	G	T	1	0	0	0	0	1	0	0	0	15386	1212	42	2		2	SPEF2	5	35793209	Missense_Mutation	SNP	G	C3L-00095_TP	2168895	35793209	145745050	254	3635											
IL7R	0	.	GRCh38	chr5	35876154	35876154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtgcagagccccaactgcCcatctgaggatgtagtcatc	10	9	10	12	0	2	2	1	1	1	1	3	3	2	3	3	1	4	2	3	1	2	1	rs111803690		C3L-00095_TP	C3L-00095_NB	C	C																c.1048C>A	p.Pro350Thr	p.P350T	ENST00000303115	8/8	295	264	31	376	375	1	strelka-varscan-mutect	IL7R,missense_variant,p.Pro350Thr,ENST00000303115,NM_002185.3;IL7R,3_prime_UTR_variant,,ENST00000505093,;IL7R,downstream_gene_variant,,ENST00000506850,;IL7R,3_prime_UTR_variant,,ENST00000514217,;IL7R,non_coding_transcript_exon_variant,,ENST00000505875,;IL7R,downstream_gene_variant,,ENST00000509668,;	A	ENST00000303115	Transcript	missense_variant	1177/4626	1048/1380	350/459	P/T	Cca/Aca	rs111803690	1		1	IL7R	HGNC	HGNC:6024	protein_coding	YES	CCDS3911.1	ENSP00000306157	P16871		UPI000013E861	NM_002185.3	tolerated(0.27)		8/8		hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF27																	MODERATE	1	SNV	1			1										PASS		rs111803690	.												A	3	1	10	35876154	35876154	C	A	1	0	0	0	0	1	0	0	0	7609	623	22	2		2	IL7R	5	35876154	Missense_Mutation	SNP	C	C3L-00095_TP	82945	35876154	145662105	255	3636											
UGT3A1	0	.	GRCh38	chr5	35988481	35988481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactttccactctgatgaagCatagtcacattatgaccatg	13	12	6	10	0	2	3	1	3	1	0	3	3	3	3	2	0	2	1	2	0	4	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.165G>T	p.Met55Ile	p.M55I	ENST00000274278	2/7	184	164	20	194	194	0	strelka-varscan-mutect	UGT3A1,start_lost,p.Met1?,ENST00000625798,NM_001171873.1;UGT3A1,start_lost,p.Met1?,ENST00000333811,;UGT3A1,missense_variant,p.Met55Ile,ENST00000274278,NM_152404.3;UGT3A1,missense_variant,p.Met55Ile,ENST00000503189,;UGT3A1,intron_variant,,ENST00000507113,;UGT3A1,intron_variant,,ENST00000513233,;UGT3A1,3_prime_UTR_variant,,ENST00000515801,;	A	ENST00000274278	Transcript	missense_variant	523/5122	165/1572	55/523	M/I	atG/atT		1		-1	UGT3A1	HGNC	HGNC:26625	protein_coding	YES	CCDS3913.1	ENSP00000274278	Q6NUS8	A8K444	UPI000003C38B	NM_152404.3	deleterious(0.03)		2/7		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF208,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	35988481	35988481	C	A	1	0	0	0	0	1	0	0	0	17487	710	25	2		2	UGT3A1	5	35988481	Missense_Mutation	SNP	C	C3L-00095_TP	112327	35988481	145549778	256	3637											
RANBP3L	0	.	GRCh38	chr5	36260823	36260823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaaaacaaaattggaaCtgcagcttttaaaagaacat	19	9	5	8	0	0	1	0	0	0	1	1	2	1	2	1	1	5	2	1	1	8	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.701G>A	p.Ser234Asn	p.S234N	ENST00000502994	9/15	199	184	15	90	90	0	strelka-varscan-mutect	RANBP3L,missense_variant,p.Ser209Asn,ENST00000296604,NM_145000.3;RANBP3L,missense_variant,p.Ser234Asn,ENST00000502994,NM_001161429.1;RANBP3L,missense_variant,p.Ser209Asn,ENST00000515759,;RANBP3L,downstream_gene_variant,,ENST00000505865,;	T	ENST00000502994	Transcript	missense_variant	1185/2278	701/1473	234/490	S/N	aGt/aAt		1		-1	RANBP3L	HGNC	HGNC:26353	protein_coding	YES	CCDS54843.1	ENSP00000421853	Q86VV4		UPI0001A5C4B2	NM_001161429.1	tolerated(0.5)		9/15		hmmpanther:PTHR23138:SF88,hmmpanther:PTHR23138																	MODERATE	1	SNV	2			1										PASS		rs1210754022	.												T	3	4	10	36260823	36260823	C	T	1	0	0	0	0	1	0	0	0	13189	565	20	3		3	RANBP3L	5	36260823	Missense_Mutation	SNP	C	C3L-00095_TP	272342	36260823	145277436	257	3638											
FBXO4	0	.	GRCh38	chr5	41939497	41939497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatgacagatccagcctttGggtcttcgggaagaccattg	10	10	11	10	1	1	3	0	1	1	2	3	4	2	4	3	2	1	0	3	2	2	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.955G>C	p.Gly319Arg	p.G319R	ENST00000281623	6/7	195	178	17	174	174	0	strelka-varscan-mutect	FBXO4,missense_variant,p.Gly319Arg,ENST00000281623,NM_012176.2;FBXO4,intron_variant,,ENST00000509134,NM_001297437.1;FBXO4,downstream_gene_variant,,ENST00000296812,NM_033484.2;FBXO4,non_coding_transcript_exon_variant,,ENST00000505566,;	C	ENST00000281623	Transcript	missense_variant	1011/1682	955/1164	319/387	G/R	Ggg/Cgg		1		1	FBXO4	HGNC	HGNC:13583	protein_coding	YES	CCDS3938.1	ENSP00000281623	Q9UKT5		UPI0000062307	NM_012176.2	deleterious(0)		6/7		hmmpanther:PTHR16008,hmmpanther:PTHR16008:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	41939497	41939497	G	C	1	0	0	0	0	1	0	0	0	5611	1348	47	4		4	FBXO4	5	41939497	Missense_Mutation	SNP	G	C3L-00095_TP	5678674	41939497	139598762	258	3639											
HCN1	0	.	GRCh38	chr5	45262491	45262491	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggagggctgcagaccgcGgtggtgtaggagcagggtga	9	5	20	7	2	0	2	0	1	0	1	0	4	0	4	1	6	2	4	1	6	1	1	rs762033519		C3L-00095_TP	C3L-00095_NB	G	G																c.2103C>G	p.=	p.T701T	ENST00000303230	8/8	150	132	18	211	211	0	strelka-varscan-mutect	HCN1,synonymous_variant,p.=,ENST00000303230,NM_021072.3;HCN1,non_coding_transcript_exon_variant,,ENST00000637305,;	C	ENST00000303230	Transcript	synonymous_variant	2344/9885	2103/2673	701/890	T	acC/acG	rs762033519,COSM395308,COSM4969051	1		-1	HCN1	HGNC	HGNC:4845	protein_coding	YES	CCDS3952.1	ENSP00000307342	O60741		UPI00001AED69	NM_021072.3			8/8		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs762033519	.												C	2	2	10	45262491	45262491	G	C	1	0	0	0	0	0	0	0	1	6883	1103	39	4		4	HCN1	5	45262491	Silent	SNP	G	C3L-00095_TP	3322994	45262491	136275768	259	3640											
ADAMTS6	0	.	GRCh38	chr5	65172889	65172889	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcggcccaaactgcagcgGatgcggacaggaggtttgct	9	6	15	11	3	0	0	0	0	0	0	0	3	0	3	1	5	6	3	1	5	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.3030C>A	p.=	p.I1010I	ENST00000381055	23/25	251	226	25	315	315	0	strelka-varscan-mutect	ADAMTS6,synonymous_variant,p.=,ENST00000381055,NM_197941.2;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000314351,;ADAMTS6,downstream_gene_variant,,ENST00000417396,;ADAMTS6,3_prime_UTR_variant,,ENST00000381052,;	T	ENST00000381055	Transcript	synonymous_variant	3887/7311	3030/3354	1010/1117	I	atC/atA		1		-1	ADAMTS6	HGNC	HGNC:222	protein_coding	YES	CCDS3983.2	ENSP00000370443	Q9UKP5		UPI000050D3F1	NM_197941.2			23/25		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF27,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	65172889	65172889	G	T	1	0	0	0	0	0	0	0	1	314	1164	41	2		2	ADAMTS6	5	65172889	Silent	SNP	G	C3L-00095_TP	19910398	65172889	116365370	260	3641											
ADAMTS6	0	.	GRCh38	chr5	65215363	65215363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtaggacctagagcttcCaaggattctggttcatcagt	10	11	12	8	0	3	1	2	0	1	1	4	4	4	3	2	4	1	3	2	4	3	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2397G>T	p.Leu799Phe	p.L799F	ENST00000381055	19/25	103	95	8	126	126	0	strelka-varscan-mutect	ADAMTS6,missense_variant,p.Leu799Phe,ENST00000381055,NM_197941.2;ADAMTS6,upstream_gene_variant,,ENST00000417396,;ADAMTS6,3_prime_UTR_variant,,ENST00000381052,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000470597,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000464680,;CTD-2194F4.2,downstream_gene_variant,,ENST00000509786,;	A	ENST00000381055	Transcript	missense_variant	3254/7311	2397/3354	799/1117	L/F	ttG/ttT		1		-1	ADAMTS6	HGNC	HGNC:222	protein_coding	YES	CCDS3983.2	ENSP00000370443	Q9UKP5		UPI000050D3F1	NM_197941.2	deleterious(0)		19/25		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF27,Pfam_domain:PF05986																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	65215363	65215363	C	A	1	0	0	0	0	1	0	0	0	314	593	21	2		2	ADAMTS6	5	65215363	Missense_Mutation	SNP	C	C3L-00095_TP	42474	65215363	116322896	261	3642											
ARHGEF28	0	.	GRCh38	chr5	73885902	73885902	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctttgcttaattaaagaCatgattgcaacagtggattt	12	14	9	6	1	0	2	0	1	0	1	0	3	0	3	0	1	3	3	0	1	4	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.3108C>T	p.=	p.D1036D	ENST00000545377	25/37	193	175	18	165	165	0	strelka-varscan-mutect	ARHGEF28,synonymous_variant,p.=,ENST00000545377,NM_001080479.2;ARHGEF28,synonymous_variant,p.=,ENST00000513042,NM_001177693.1;ARHGEF28,synonymous_variant,p.=,ENST00000426542,;ARHGEF28,synonymous_variant,p.=,ENST00000437974,;ARHGEF28,synonymous_variant,p.=,ENST00000296794,;ARHGEF28,synonymous_variant,p.=,ENST00000296799,NM_001244364.1;ARHGEF28,upstream_gene_variant,,ENST00000512883,;ARHGEF28,non_coding_transcript_exon_variant,,ENST00000510312,;ARHGEF28,upstream_gene_variant,,ENST00000504003,;	T	ENST00000545377	Transcript	synonymous_variant	3284/6351	3108/5196	1036/1731	D	gaC/gaT		1		1	ARHGEF28	HGNC	HGNC:30322	protein_coding	YES	CCDS47231.2	ENSP00000441913	Q8N1W1		UPI00004DF58E	NM_001080479.2			25/37		Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF133,SMART_domains:SM00325,Superfamily_domains:SSF48065																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	10	73885902	73885902	C	T	1	0	0	0	0	0	0	0	1	1036	477	17	3		3	ARHGEF28	5	73885902	Silent	SNP	C	C3L-00095_TP	8670539	73885902	107652357	262	3643											
DMGDH	0	.	GRCh38	chr5	79042470	79042470	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tagatcagactcaaagagttCctttccaaaacctaaaaaga	18	9	5	9	0	2	4	2	0	0	4	4	4	4	4	3	0	1	1	3	0	7	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1006G>C	p.Glu336Gln	p.E336Q	ENST00000255189	7/16	379	347	32	438	438	0	strelka-varscan-mutect	DMGDH,missense_variant,p.Glu336Gln,ENST00000255189,NM_013391.3;DMGDH,missense_variant,p.Glu175Gln,ENST00000523732,;DMGDH,3_prime_UTR_variant,,ENST00000518477,;DMGDH,3_prime_UTR_variant,,ENST00000521052,;DMGDH,intron_variant,,ENST00000517853,;	G	ENST00000255189	Transcript	missense_variant	1035/3106	1006/2601	336/866	E/Q	Gaa/Caa		1		-1	DMGDH	HGNC	HGNC:24475	protein_coding	YES	CCDS4044.1	ENSP00000255189	Q9UI17		UPI000013CE96	NM_013391.3	deleterious(0.01)		7/16		Gene3D:3.30.9.10,Pfam_domain:PF01266,hmmpanther:PTHR13847,hmmpanther:PTHR13847:SF187,Superfamily_domains:SSF54373																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	79042470	79042470	C	G	1	0	0	0	0	1	0	0	0	4388	864	30	4		4	DMGDH	5	79042470	Missense_Mutation	SNP	C	C3L-00095_TP	5156568	79042470	102495789	263	3644											
YTHDC2	0	.	GRCh38	chr5	113567116	113567116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttagagcacgaggtggtgGtgacattcgggacgttaaca	10	10	15	6	3	0	2	0	1	0	1	1	4	0	3	0	4	2	3	0	4	2	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2867G>T	p.Gly956Val	p.G956V	ENST00000161863	22/30	194	178	16	224	222	2	strelka-varscan-mutect	YTHDC2,missense_variant,p.Gly956Val,ENST00000161863,NM_022828.3;YTHDC2,non_coding_transcript_exon_variant,,ENST00000506333,;	T	ENST00000161863	Transcript	missense_variant	3080/6316	2867/4293	956/1430	G/V	gGt/gTt		1		1	YTHDC2	HGNC	HGNC:24721	protein_coding	YES	CCDS4113.1	ENSP00000161863	Q9H6S0		UPI0000367311	NM_022828.3	deleterious(0.05)		22/30		hmmpanther:PTHR18934:SF125,hmmpanther:PTHR18934,Pfam_domain:PF07717																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	113567116	113567116	G	T	1	0	0	0	0	1	0	0	0	18058	1261	44	2		2	YTHDC2	5	113567116	Missense_Mutation	SNP	G	C3L-00095_TP	34524646	113567116	67971143	264	3645											
DMXL1	0	.	GRCh38	chr5	119193853	119193853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaccctcttctcaaagtaGagccgaatatgattcagagg	12	11	8	10	1	4	3	2	1	3	2	5	4	4	3	2	1	2	1	2	1	5	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.7340G>T	p.Arg2447Ile	p.R2447I	ENST00000539542	30/44	349	301	48	256	255	1	strelka-varscan-mutect	DMXL1,missense_variant,p.Arg2447Ile,ENST00000539542,NM_001290321.2;DMXL1,missense_variant,p.Arg2447Ile,ENST00000311085,NM_001290322.2,NM_005509.5;DMXL1,upstream_gene_variant,,ENST00000511622,;DMXL1,upstream_gene_variant,,ENST00000502516,;	T	ENST00000539542	Transcript	missense_variant	7521/11236	7340/9147	2447/3048	R/I	aGa/aTa		1		1	DMXL1	HGNC	HGNC:2937	protein_coding	YES	CCDS75289.1	ENSP00000439479		F5H269	UPI000206568B	NM_001290321.2	tolerated(0.22)		30/44		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	119193853	119193853	G	T	1	0	0	0	0	1	0	0	0	4403	942	33	2		2	DMXL1	5	119193853	Missense_Mutation	SNP	G	C3L-00095_TP	5626737	119193853	62344406	265	3646											
GDF9	0	.	GRCh38	chr5	132864487	132864487	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctaataggaaaacacagcCaggcaaagcagcaaaaccaa	20	2	9	10	0	0	0	0	0	0	0	0	1	0	1	2	3	5	4	2	3	8	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.47G>A	p.Trp16Ter	p.W16*	ENST00000378673	2/3	173	158	15	202	202	0	strelka-varscan-mutect	GDF9,stop_gained,p.Trp16Ter,ENST00000378673,NM_005260.4;GDF9,intron_variant,,ENST00000621295,NM_001288825.2;GDF9,intron_variant,,ENST00000624492,NM_001288824.2;GDF9,intron_variant,,ENST00000624495,NM_001288828.2,NM_001288826.2;GDF9,intron_variant,,ENST00000296875,NM_001288827.2;UQCRQ,upstream_gene_variant,,ENST00000378670,;UQCRQ,upstream_gene_variant,,ENST00000378665,;UQCRQ,upstream_gene_variant,,ENST00000378667,NM_014402.4;GDF9,intron_variant,,ENST00000464378,;GDF9,intron_variant,,ENST00000472320,;UQCRQ,upstream_gene_variant,,ENST00000496429,;UQCRQ,upstream_gene_variant,,ENST00000498309,;UQCRQ,upstream_gene_variant,,ENST00000480372,;	T	ENST00000378673	Transcript	stop_gained	914/2640	47/1365	16/454	W/*	tGg/tAg		1		-1	GDF9	HGNC	HGNC:4224	protein_coding	YES	CCDS4162.1	ENSP00000367942	O60383		UPI000012B396	NM_005260.4			2/3		Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF19																	HIGH		SNV	5			1										PASS		.	.												T	4	4	10	132864487	132864487	C	T	1	0	0	0	0	0	1	0	0	6192	595	21	3		3	GDF9	5	132864487	Nonsense_Mutation	SNP	C	C3L-00095_TP	13670634	132864487	48673772	266	3647											
PCDHB3	0	.	GRCh38	chr5	141100844	141100844	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggccgcgaggggggcccaAgttgtgtccaaagggaacaa	10	5	16	10	2	0	0	0	0	0	0	1	2	1	1	3	5	1	1	3	5	4	1			C3L-00095_TP	C3L-00095_NB	A	A																c.195A>C	p.Gln65His	p.Q65H	ENST00000231130	1/1	108	101	7	152	152	0	strelka-varscan-mutect	PCDHB3,missense_variant,p.Gln65His,ENST00000231130,NM_018937.4;PCDHB2,downstream_gene_variant,,ENST00000194155,NM_018936.3;PCDHB2,downstream_gene_variant,,ENST00000622947,;PCDHB3,upstream_gene_variant,,ENST00000624513,;PCDHB2,downstream_gene_variant,,ENST00000624994,;AC005754.7,intron_variant,,ENST00000607216,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;CTC-270D5.1,upstream_gene_variant,,ENST00000623615,;CTC-270D5.1,upstream_gene_variant,,ENST00000623741,;	C	ENST00000231130	Transcript	missense_variant	372/3355	195/2391	65/796	Q/H	caA/caC	COSM1173092	1		1	PCDHB3	HGNC	HGNC:8688	protein_coding	YES	CCDS4245.1	ENSP00000231130	Q9Y5E6		UPI0003CC25DF	NM_018937.4	deleterious_low_confidence(0.01)		1/1		Pfam_domain:PF08266,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE		SNV			1	1										PASS		.	.												C	3	2	10	141100844	141100844	A	C	1	0	0	0	0	1	0	0	0	11630	69	3	5		5	PCDHB3	5	141100844	Missense_Mutation	SNP	A	C3L-00095_TP	8236357	141100844	40437415	267	3648											
PCDHB9	0	.	GRCh38	chr5	141188012	141188012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccactatacgcattgtgGtcttggatgtcaatgacaat	10	13	8	10	1	2	1	1	1	1	0	3	2	3	2	2	2	1	1	2	2	4	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.694G>T	p.Val232Phe	p.V232F	ENST00000316105	1/1	150	141	9	205	204	1	varscan-mutect	PCDHB9,missense_variant,p.Val232Phe,ENST00000316105,NM_019119.4;PCDHB9,intron_variant,,ENST00000624909,;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.3;PCDHB16,downstream_gene_variant,,ENST00000625044,;CH17-140K24.5,downstream_gene_variant,,ENST00000623884,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,upstream_gene_variant,,ENST00000624089,;CH17-140K24.6,downstream_gene_variant,,ENST00000625144,;PCDHB9,intron_variant,,ENST00000623266,;CH17-140K24.5,intron_variant,,ENST00000623407,;	T	ENST00000316105	Transcript	missense_variant	886/4415	694/2394	232/797	V/F	Gtc/Ttc		1		1	PCDHB9	HGNC	HGNC:8694	protein_coding	YES	CCDS75328.1	ENSP00000478606	Q9Y5E1		UPI00005764A0	NM_019119.4	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF128,hmmpanther:PTHR24028,PROSITE_patterns:PS00232,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												T	3	4	10	141188012	141188012	G	T	1	0	0	0	0	1	0	0	0	11636	1261	44	2		2	PCDHB9	5	141188012	Missense_Mutation	SNP	G	C3L-00095_TP	87168	141188012	40350247	268	3649											
PCDHB14	0	.	GRCh38	chr5	141224465	141224465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctacactataaatattcaGgcaacagatggtgggggtct	12	11	10	8	0	2	1	1	0	1	1	3	1	3	1	1	4	2	1	1	4	6	5	rs372009610		C3L-00095_TP	C3L-00095_NB	G	G																c.960G>T	p.Gln320His	p.Q320H	ENST00000239449	1/1	81	75	6	127	127	0	strelka-mutect	PCDHB14,missense_variant,p.Gln320His,ENST00000239449,NM_018934.3;PCDHB14,missense_variant,p.Gln167His,ENST00000624896,;CH17-140K24.8,intron_variant,,ENST00000624396,;CH17-140K24.2,intron_variant,,ENST00000624192,;	T	ENST00000239449	Transcript	missense_variant	1534/4828	960/2397	320/798	Q/H	caG/caT	rs372009610	1		1	PCDHB14	HGNC	HGNC:8685	protein_coding	YES	CCDS4256.1	ENSP00000239449	Q9Y5E9		UPI00001273E7	NM_018934.3	deleterious_low_confidence(0)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		rs372009610	.												T	3	4	10	141224465	141224465	G	T	1	0	0	0	0	1	0	0	0	11626	991	35	2		2	PCDHB14	5	141224465	Missense_Mutation	SNP	G	C3L-00095_TP	36453	141224465	40313794	269	3650											
PCDHGB5	0	.	GRCh38	chr5	141398853	141398853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgataatcccccggtattCaaccgagacgtgtacagagt	13	9	9	10	3	1	3	1	1	0	2	2	4	2	3	3	1	2	2	3	1	5	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.726C>A	p.Phe242Leu	p.F242L	ENST00000617380	1/4	187	167	20	267	267	0	strelka-varscan-mutect	PCDHGB5,missense_variant,p.Phe242Leu,ENST00000617380,NM_018925.2;PCDHGB5,missense_variant,p.Phe242Leu,ENST00000621169,NM_032099.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGA8,downstream_gene_variant,,ENST00000610569,NM_014004.2;PCDHGA9,upstream_gene_variant,,ENST00000573521,NM_018921.2;PCDHGA9,upstream_gene_variant,,ENST00000616887,NM_032089.1;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000617380	Transcript	missense_variant	726/4578	726/2772	242/923	F/L	ttC/ttA		1		1	PCDHGB5	HGNC	HGNC:8712	protein_coding	YES	CCDS75339.1	ENSP00000478258	Q9Y5G0		UPI000007279C	NM_018925.2	deleterious(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF126,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	141398853	141398853	C	A	1	0	0	0	0	1	0	0	0	11653	825	29	2		2	PCDHGB5	5	141398853	Missense_Mutation	SNP	C	C3L-00095_TP	174388	141398853	40139406	270	3651											
PCDHGB5	0	.	GRCh38	chr5	141399044	141399044	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaagaaactggattttgAagagaccaaggaatattcaa	19	9	8	5	0	2	3	2	1	0	2	2	6	2	5	1	2	1	0	1	2	8	4	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.917A>T	p.Glu306Val	p.E306V	ENST00000617380	1/4	187	172	15	227	226	1	strelka-varscan-mutect	PCDHGB5,missense_variant,p.Glu306Val,ENST00000617380,NM_018925.2;PCDHGB5,missense_variant,p.Glu306Val,ENST00000621169,NM_032099.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGA8,downstream_gene_variant,,ENST00000610569,NM_014004.2;PCDHGA9,upstream_gene_variant,,ENST00000573521,NM_018921.2;PCDHGA9,upstream_gene_variant,,ENST00000616887,NM_032089.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000617380	Transcript	missense_variant	917/4578	917/2772	306/923	E/V	gAa/gTa		1		1	PCDHGB5	HGNC	HGNC:8712	protein_coding	YES	CCDS75339.1	ENSP00000478258	Q9Y5G0		UPI000007279C	NM_018925.2	deleterious(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF126,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	141399044	141399044	A	T	1	0	0	0	0	1	0	0	0	11653	246	9	4		4	PCDHGB5	5	141399044	Missense_Mutation	SNP	A	C3L-00095_TP	191	141399044	40139215	271	3652											
PCDHGA10	0	.	GRCh38	chr5	141413590	141413590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaatgctccaaaattccaaGcagaaaatctagacgtaaaa	20	7	5	9	1	1	2	0	0	1	2	3	2	3	2	2	0	2	3	2	0	9	3	rs759901330		C3L-00095_TP	C3L-00095_NB	G	G																c.415G>T	p.Ala139Ser	p.A139S	ENST00000398610	1/4	169	159	10	250	250	0	strelka-varscan-mutect	PCDHGA10,missense_variant,p.Ala139Ser,ENST00000398610,NM_018913.2;PCDHGA10,missense_variant,p.Ala139Ser,ENST00000612503,NM_032090.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGB7,upstream_gene_variant,,ENST00000398594,NM_018927.3;PCDHGB6,downstream_gene_variant,,ENST00000616430,NM_032100.1;PCDHGB7,upstream_gene_variant,,ENST00000612073,NM_032101.2;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000398610	Transcript	missense_variant	415/4617	415/2811	139/936	A/S	Gca/Tca	rs759901330	1		1	PCDHGA10	HGNC	HGNC:8697	protein_coding	YES	CCDS47292.1	ENSP00000381611	Q9Y5H3		UPI00000726C3	NM_018913.2	tolerated_low_confidence(0.52)		1/4		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF110,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs759901330	.												T	3	4	10	141413590	141413590	G	T	1	0	0	0	0	1	0	0	0	11638	971	34	2		2	PCDHGA10	5	141413590	Missense_Mutation	SNP	G	C3L-00095_TP	14546	141413590	40124669	272	3653											
PCDHGA12	0	.	GRCh38	chr5	141430944	141430944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgggagctcgcggagcGcggagtccgcatcatcccca	6	4	14	17	6	1	0	1	0	0	0	4	3	3	3	5	3	2	2	5	3	0	0			C3L-00095_TP	C3L-00095_NB	G	G																c.185G>T	p.Arg62Leu	p.R62L	ENST00000252085	1/4	68	59	9	94	94	0	strelka-varscan-mutect	PCDHGA12,missense_variant,p.Arg62Leu,ENST00000252085,NM_003735.2;PCDHGA12,missense_variant,p.Arg62Leu,ENST00000613314,NM_032094.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB7,intron_variant,,ENST00000398594,NM_018927.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA11,intron_variant,,ENST00000398587,NM_018914.2;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGA11,intron_variant,,ENST00000518882,NM_032092.1;AC005618.9,upstream_gene_variant,,ENST00000624928,;PCDHGB8P,downstream_gene_variant,,ENST00000502926,;PCDHGA3,intron_variant,,ENST00000612467,;PCDHGB8P,downstream_gene_variant,,ENST00000507007,;	T	ENST00000252085	Transcript	missense_variant	327/4747	185/2799	62/932	R/L	cGc/cTc	COSM5344868,COSM5344869	1		1	PCDHGA12	HGNC	HGNC:8699	protein_coding	YES	CCDS4260.1	ENSP00000252085	O60330		UPI0000073EA1	NM_003735.2	deleterious_low_confidence(0.01)		1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF109,Pfam_domain:PF08266,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1417018095	.												T	3	4	10	141430944	141430944	G	T	1	0	0	0	0	1	0	0	0	11640	1087	38	1		1	PCDHGA12	5	141430944	Missense_Mutation	SNP	G	C3L-00095_TP	17354	141430944	40107315	273	3654											
PDE6A	0	.	GRCh38	chr5	149931127	149931127	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaactgtcgttcgatgtcCgtaagttcttcaaagacttt	9	15	9	8	3	2	1	1	0	1	1	5	3	3	2	1	1	1	3	1	1	3	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.759G>C	p.=	p.T253T	ENST00000255266	4/22	381	347	34	510	509	1	strelka-varscan-mutect	PDE6A,synonymous_variant,p.=,ENST00000255266,NM_000440.2;PDE6A,synonymous_variant,p.=,ENST00000613228,;PDE6A,synonymous_variant,p.=,ENST00000617647,;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;AC008427.2,downstream_gene_variant,,ENST00000503102,;	G	ENST00000255266	Transcript	synonymous_variant	879/5642	759/2583	253/860	T	acG/acC		1		-1	PDE6A	HGNC	HGNC:8785	protein_coding	YES	CCDS4299.1	ENSP00000255266	P16499		UPI000013CE9F	NM_000440.2			4/22		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF115,Gene3D:3.30.450.40,Superfamily_domains:SSF55781																	LOW	1	SNV	1			1										PASS		rs879171832	.												G	2	3	10	149931127	149931127	C	G	1	0	0	0	0	0	0	0	1	11733	639	23	4		4	PDE6A	5	149931127	Silent	SNP	C	C3L-00095_TP	8500183	149931127	31607132	274	3655											
NMUR2	0	.	GRCh38	chr5	152398146	152398146	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatttgtctttctttagcTgaaagggaagtaagttggga	11	14	13	3	0	2	2	0	1	2	1	2	5	2	4	0	2	1	3	0	2	4	6	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.727-2A>T		p.X243_splice	ENST00000255262		124	110	14	115	114	1	strelka-varscan-mutect	NMUR2,splice_acceptor_variant,,ENST00000255262,NM_020167.4;NMUR2,splice_acceptor_variant,,ENST00000518933,;	A	ENST00000255262	Transcript	splice_acceptor_variant	-/2073	727/1248	243/415				1		-1	NMUR2	HGNC	HGNC:16454	protein_coding	YES	CCDS4321.1	ENSP00000255262	Q9GZQ4		UPI000013CE9D	NM_020167.4				1/3																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	10	152398146	152398146	T	A	1	0	0	0	0	0	0	1	0	10548	1594	55	4		4	NMUR2	5	152398146	Splice_Site	SNP	T	C3L-00095_TP	2467019	152398146	29140113	275	3656											
KIF4B	0	.	GRCh38	chr5	155017164	155017164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacaagcagtgtgggtgcaGgaagcaaaagtcagactgtg	14	6	15	6	0	1	1	1	0	0	1	1	3	1	2	0	2	4	3	0	2	5	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.3305G>A	p.Arg1102Lys	p.R1102K	ENST00000435029	1/1	424	389	35	529	528	1	varscan-mutect	KIF4B,missense_variant,p.Arg1102Lys,ENST00000435029,NM_001099293.1;	A	ENST00000435029	Transcript	missense_variant	3410/4378	3305/3705	1102/1234	R/K	aGg/aAg		1		1	KIF4B	HGNC	HGNC:6322	protein_coding	YES	CCDS47324.1	ENSP00000387875	Q2VIQ3		UPI000013D5DB	NM_001099293.1	tolerated(0.17)		1/1		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF392,SMART_domains:SM01114																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	10	155017164	155017164	G	A	1	0	0	0	0	1	0	0	0	8169	1000	35	3		3	KIF4B	5	155017164	Missense_Mutation	SNP	G	C3L-00095_TP	2619018	155017164	26521095	276	3657											
HAVCR2	0	.	GRCh38	chr5	157095347	157095347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agataagagccagagccagcCcagcacagatccctgctccg	12	4	10	15	1	0	4	0	0	0	4	2	4	2	4	5	0	5	2	5	0	1	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.635G>T	p.Gly212Val	p.G212V	ENST00000307851	5/7	257	230	27	296	295	1	strelka-varscan-mutect	HAVCR2,missense_variant,p.Gly212Val,ENST00000307851,NM_032782.4;HAVCR2,missense_variant,p.Gly184Val,ENST00000522593,;HAVCR2,downstream_gene_variant,,ENST00000524219,;HAVCR2,downstream_gene_variant,,ENST00000521665,;	A	ENST00000307851	Transcript	missense_variant	1366/2907	635/906	212/301	G/V	gGg/gTg		1		-1	HAVCR2	HGNC	HGNC:18437	protein_coding	YES	CCDS4333.1	ENSP00000312002	Q8TDQ0		UPI000011AAFA	NM_032782.4	tolerated(0.16)		5/7		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	157095347	157095347	C	A	1	0	0	0	0	1	0	0	0	6860	623	22	2		2	HAVCR2	5	157095347	Missense_Mutation	SNP	C	C3L-00095_TP	2078183	157095347	24442912	277	3658											
GABRA6	0	.	GRCh38	chr5	161686008	161686008	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggcgtcgtctctgcccTggctgtgcattattctgtgg	3	14	14	10	2	2	0	0	0	2	0	4	1	2	1	1	4	2	2	1	4	1	2	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.19T>A	p.Trp7Arg	p.W7R	ENST00000274545	1/9	301	279	22	412	412	0	strelka-varscan-mutect	GABRA6,missense_variant,p.Trp7Arg,ENST00000523217,;GABRA6,missense_variant,p.Trp7Arg,ENST00000274545,NM_000811.2;GABRA6,upstream_gene_variant,,ENST00000520000,;GABRA6,upstream_gene_variant,,ENST00000523691,;GABRA6,upstream_gene_variant,,ENST00000517823,;RP11-348M17.2,downstream_gene_variant,,ENST00000521984,;GABRA6,intron_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,upstream_gene_variant,,ENST00000521520,;GABRA6,upstream_gene_variant,,ENST00000524220,;	A	ENST00000274545	Transcript	missense_variant	452/2128	19/1362	7/453	W/R	Tgg/Agg		1		1	GABRA6	HGNC	HGNC:4080	protein_coding	YES	CCDS4356.1	ENSP00000274545	Q16445		UPI000013DA14	NM_000811.2	deleterious_low_confidence(0.03)		1/9		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Prints_domain:PR01619																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	161686008	161686008	T	A	1	0	0	0	0	1	0	0	0	6036	1580	55	4		4	GABRA6	5	161686008	Missense_Mutation	SNP	T	C3L-00095_TP	4590661	161686008	19852251	278	3659											
TENM2	0	.	GRCh38	chr5	168124947	168124947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctgaactgtgagctggcGagggtccagtgcccagacca	8	7	15	11	1	1	3	0	2	1	1	2	4	2	3	3	3	3	1	3	3	1	0	rs752804454		C3L-00095_TP	C3L-00095_NB	G	G																c.2106G>A	p.=	p.A702A	ENST00000518659	11/29	194	178	16	295	294	1	strelka-varscan-mutect	TENM2,synonymous_variant,p.=,ENST00000519204,;TENM2,synonymous_variant,p.=,ENST00000518659,NM_001122679.1;TENM2,synonymous_variant,p.=,ENST00000520394,;CTB-178M22.1,intron_variant,,ENST00000517408,;CTB-105N12.2,upstream_gene_variant,,ENST00000624423,;	A	ENST00000518659	Transcript	synonymous_variant	2145/8550	2106/8325	702/2774	A	gcG/gcA	rs752804454,COSM1065510,COSM1065511,COSM1154427	1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1			11/29		PROSITE_profiles:PS50026,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8											0,1,1,1						LOW		SNV	5		0,1,1,1	1										PASS		rs752804454	.												A	2	1	10	168124947	168124947	G	A	1	0	0	0	0	0	0	0	1	16172	1045	37	1		1	TENM2	5	168124947	Silent	SNP	G	C3L-00095_TP	6438939	168124947	13413312	279	3660											
DOCK2	0	.	GRCh38	chr5	169708233	169708233	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctccgttgtgtactatcAagtcaaacagccacgctgga	10	10	9	12	3	2	0	2	0	0	0	4	1	3	1	2	1	3	4	2	1	4	3	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.1448A>G	p.Gln483Arg	p.Q483R	ENST00000256935	15/52	223	209	14	273	273	0	strelka-varscan-mutect	DOCK2,missense_variant,p.Gln483Arg,ENST00000256935,NM_004946.2;DOCK2,missense_variant,p.Lys10Glu,ENST00000520908,;DOCK2,intron_variant,,ENST00000540750,;DOCK2,missense_variant,p.Gln483Arg,ENST00000524185,;	G	ENST00000256935	Transcript	missense_variant	1528/6097	1448/5493	483/1830	Q/R	cAa/cGa		1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2	deleterious(0.01)		15/52		PROSITE_profiles:PS51650,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Pfam_domain:PF14429																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	169708233	169708233	A	G	1	0	0	0	0	1	0	0	0	4502	131	5	5		5	DOCK2	5	169708233	Missense_Mutation	SNP	A	C3L-00095_TP	1583286	169708233	11830026	280	3661											
LMAN2	0	.	GRCh38	chr5	177337376	177337376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaccgtcagacggcccCgggagtagcgcacagccagg	8	4	14	15	4	2	1	2	0	0	1	2	2	2	2	4	3	3	3	4	3	1	1	rs761995183		C3L-00095_TP	C3L-00095_NB	C	C																c.662G>T	p.Arg221Leu	p.R221L	ENST00000303127	5/8	184	161	23	264	263	1	strelka-varscan-mutect	LMAN2,missense_variant,p.Arg221Leu,ENST00000303127,NM_006816.2;LMAN2,missense_variant,p.Arg221Leu,ENST00000515209,;LMAN2,missense_variant,p.Arg214Leu,ENST00000502560,;LMAN2,missense_variant,p.Arg150Leu,ENST00000513877,;LMAN2,intron_variant,,ENST00000514458,;LMAN2,downstream_gene_variant,,ENST00000506310,;LMAN2,non_coding_transcript_exon_variant,,ENST00000502721,;LMAN2,upstream_gene_variant,,ENST00000504071,;	A	ENST00000303127	Transcript	missense_variant	867/1800	662/1071	221/356	R/L	cGg/cTg	rs761995183,COSM302563	1		-1	LMAN2	HGNC	HGNC:16986	protein_coding	YES	CCDS4417.1	ENSP00000303366	Q12907		UPI0000037B35	NM_006816.2	tolerated(0.05)		5/8		Gene3D:2.60.120.200,Pfam_domain:PF03388,PROSITE_profiles:PS51328,hmmpanther:PTHR12223,hmmpanther:PTHR12223:SF22,Superfamily_domains:SSF49899											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs761995183	.												A	3	1	10	177337376	177337376	C	A	1	0	0	0	0	1	0	0	0	8762	652	23	1		1	LMAN2	5	177337376	Missense_Mutation	SNP	C	C3L-00095_TP	7629143	177337376	4200883	281	3662											
GRK6	0	.	GRCh38	chr5	177432780	177432780	+	Nonsense_Mutation	SNP	C	C	A																															cggctggagcagggtccctgCaaagaccttttccaggaact																								novel		C3L-00095_TP	C3L-00095_NB	C	C																c.414C>A	p.Cys138Ter	p.C138*	ENST00000528793	5/16	121	113	8	144	144	0	strelka-varscan-mutect	GRK6,stop_gained,p.Cys138Ter,ENST00000355472,NM_001004106.2;GRK6,stop_gained,p.Cys138Ter,ENST00000393576,;GRK6,stop_gained,p.Cys138Ter,ENST00000528793,NM_002082.3;GRK6,stop_gained,p.Cys138Ter,ENST00000355958,NM_001004105.2;GRK6,stop_gained,p.Cys138Ter,ENST00000507633,;GRK6,stop_gained,p.Cys106Ter,ENST00000506296,;GRK6,stop_gained,p.Cys106Ter,ENST00000511244,;GRK6,downstream_gene_variant,,ENST00000502598,;GRK6,downstream_gene_variant,,ENST00000512684,;GRK6,non_coding_transcript_exon_variant,,ENST00000515666,;GRK6,intron_variant,,ENST00000508705,;	A	ENST00000528793	Transcript	stop_gained	417/2571	414/1770	138/589	C/*	tgC/tgA		1		1	GRK6	HGNC	HGNC:4545	protein_coding	YES	CCDS47348.1	ENSP00000433511	P43250		UPI000002AAC9	NM_002082.3			5/16		Pfam_domain:PF00615,PROSITE_profiles:PS50132,hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF15,SMART_domains:SM00315,Superfamily_domains:SSF48097																	HIGH	1	SNV	1			1										PASS		rs1464617742	.												A	4	1	10	177432780	177432780	C	A	1	0	0	0	0	0	1	0	0	6676	718	25	2		2	GRK6	5	177432780	Nonsense_Mutation	SNP	C	C3L-00095_TP	95404	177432780	4105479	282	3663	80	2									
GRK6	0	.	GRCh38	chr5	177432784	177432784	+	Missense_Mutation	SNP	G	G	T																															tggagcagggtccctgcaaaGaccttttccaggaactcacc																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.418G>T	p.Asp140Tyr	p.D140Y	ENST00000528793	5/16	119	111	8	140	140	0	strelka-varscan-mutect	GRK6,missense_variant,p.Asp140Tyr,ENST00000355472,NM_001004106.2;GRK6,missense_variant,p.Asp140Tyr,ENST00000393576,;GRK6,missense_variant,p.Asp140Tyr,ENST00000528793,NM_002082.3;GRK6,missense_variant,p.Asp140Tyr,ENST00000355958,NM_001004105.2;GRK6,missense_variant,p.Asp140Tyr,ENST00000507633,;GRK6,missense_variant,p.Asp108Tyr,ENST00000506296,;GRK6,missense_variant,p.Asp108Tyr,ENST00000511244,;GRK6,downstream_gene_variant,,ENST00000502598,;GRK6,downstream_gene_variant,,ENST00000512684,;GRK6,non_coding_transcript_exon_variant,,ENST00000515666,;GRK6,intron_variant,,ENST00000508705,;	T	ENST00000528793	Transcript	missense_variant	421/2571	418/1770	140/589	D/Y	Gac/Tac		1		1	GRK6	HGNC	HGNC:4545	protein_coding	YES	CCDS47348.1	ENSP00000433511	P43250		UPI000002AAC9	NM_002082.3	deleterious(0.02)		5/16		Pfam_domain:PF00615,PROSITE_profiles:PS50132,hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF15,SMART_domains:SM00315,Superfamily_domains:SSF48097																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	177432784	177432784	G	T	1	0	0	0	0	1	0	0	0	6676	942	33	2		2	GRK6	5	177432784	Missense_Mutation	SNP	G	C3L-00095_TP	4	177432784	4105475	283	3664	80	2									
TBC1D9B	0	.	GRCh38	chr5	179899283	179899283	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccagccattcccagtgtTttgtgatctctttgcgggaa	6	16	9	10	1	1	1	0	1	1	0	4	2	3	2	3	1	2	1	3	1	1	5	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.254A>T	p.Lys85Ile	p.K85I	ENST00000356834	3/22	215	195	20	265	265	0	strelka-varscan-mutect	TBC1D9B,missense_variant,p.Lys85Ile,ENST00000356834,NM_198868.2;TBC1D9B,missense_variant,p.Lys85Ile,ENST00000355235,NM_015043.3;TBC1D9B,intron_variant,,ENST00000630103,;TBC1D9B,upstream_gene_variant,,ENST00000517782,;TBC1D9B,intron_variant,,ENST00000522224,;	A	ENST00000356834	Transcript	missense_variant	292/5173	254/3753	85/1250	K/I	aAa/aTa		1		-1	TBC1D9B	HGNC	HGNC:29097	protein_coding	YES	CCDS43408.1	ENSP00000349291	Q66K14		UPI000034ECFF	NM_198868.2	deleterious(0.03)		3/22		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF225																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	179899283	179899283	T	A	1	0	0	0	0	1	0	0	0	16033	1841	64	4		4	TBC1D9B	5	179899283	Missense_Mutation	SNP	T	C3L-00095_TP	2466499	179899283	1638976	284	3665											
DEK	0	.	GRCh38	chr6	18255772	18255772	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaagaaattcaagatccTcttcactagttcactattta	14	15	3	9	0	4	2	3	0	1	2	5	2	5	2	1	0	0	1	1	0	6	8	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.532A>G	p.Arg178Gly	p.R178G	ENST00000397239	6/11	99	93	6	82	82	0	strelka-mutect	DEK,missense_variant,p.Arg178Gly,ENST00000397239,NM_003472.3;DEK,missense_variant,p.Arg144Gly,ENST00000244776,NM_001134709.1;DEK,missense_variant,p.Arg111Gly,ENST00000503715,;DEK,downstream_gene_variant,,ENST00000515742,;DEK,missense_variant,p.Arg150Gly,ENST00000505224,;DEK,missense_variant,p.Arg54Gly,ENST00000515770,;DEK,non_coding_transcript_exon_variant,,ENST00000512145,;	C	ENST00000397239	Transcript	missense_variant	980/3427	532/1128	178/375	R/G	Agg/Ggg		1		-1	DEK	HGNC	HGNC:2768	protein_coding	YES	CCDS34344.1	ENSP00000380414	P35659		UPI0000001C2C	NM_003472.3	deleterious(0)		6/11		hmmpanther:PTHR13468,SMART_domains:SM00513																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	18255772	18255772	T	C	1	0	0	0	0	1	0	0	0	4229	1550	54	5		5	DEK	6	18255772	Missense_Mutation	SNP	T	C3L-00095_TP		18255772	152550207	285	3666											
LRRC16A	0	.	GRCh38	chr6	25604881	25604881	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgtagaacggtcggatGgaggtggggcaggtaagtca	9	6	20	6	4	1	1	1	0	0	1	2	3	1	3	0	8	1	3	0	8	3	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.3622G>T	p.Gly1208Ter	p.G1208*	ENST00000329474	34/37	215	202	13	249	248	1	strelka-varscan	LRRC16A,stop_gained,p.Gly1208Ter,ENST00000329474,NM_001173977.1,NM_017640.5;LRRC16A,stop_gained,p.Gly808Ter,ENST00000635618,;	T	ENST00000329474	Transcript	stop_gained	3990/5431	3622/4116	1208/1371	G/*	Gga/Tga		1		1	LRRC16A	HGNC	HGNC:21581	protein_coding	YES	CCDS54973.1	ENSP00000331983	Q5VZK9		UPI00004588AB	NM_001173977.1,NM_017640.5			34/37																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	10	25604881	25604881	G	T	1	0	0	0	0	0	1	0	0	8867	1349	47	2		2	LRRC16A	6	25604881	Nonsense_Mutation	SNP	G	C3L-00095_TP	7349109	25604881	145201098	286	3667											
POM121L2	0	.	GRCh38	chr6	27311928	27311928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaattctgggacttcttCatgggaaagcgcctccaggc	8	9	14	10	1	3	0	1	0	2	0	4	3	4	3	2	5	1	0	2	5	2	3	rs558295499		C3L-00095_TP	C3L-00095_NB	C	C																c.243G>T	p.Met81Ile	p.M81I	ENST00000444565	1/1	115	109	6	152	152	0	strelka-varscan	POM121L2,missense_variant,p.Met81Ile,ENST00000444565,NM_033482.3;POM121L2,upstream_gene_variant,,ENST00000429945,;	A	ENST00000444565	Transcript	missense_variant	243/3108	243/3108	81/1035	M/I	atG/atT	rs558295499	1		-1	POM121L2	HGNC	HGNC:13973	protein_coding	YES	CCDS59497.1	ENSP00000392726	Q96KW2		UPI0000198C27	NM_033482.3	tolerated(0.52)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	10	27311928	27311928	C	A	1	0	0	0	0	1	0	0	0	12353	826	29	2		2	POM121L2	6	27311928	Missense_Mutation	SNP	C	C3L-00095_TP	1707047	27311928	143494051	287	3668											
OR2B2	0	.	GRCh38	chr6	27912104	27912104	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaactgtacttgtggtataGcaaaggtccaggagtgagag	12	9	15	5	0	0	1	0	1	0	1	1	4	1	3	1	4	3	3	1	4	5	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.216C>A	p.Cys72Ter	p.C72*	ENST00000303324	1/1	94	87	7	100	98	2	strelka-varscan	OR2B2,stop_gained,p.Cys72Ter,ENST00000303324,NM_033057.2;	T	ENST00000303324	Transcript	stop_gained	293/1212	216/1074	72/357	C/*	tgC/tgA		1		-1	OR2B2	HGNC	HGNC:13966	protein_coding	YES	CCDS4641.1	ENSP00000304419	Q9GZK3	A0A126GWD0	UPI000004187A	NM_033057.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF254,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	HIGH	1	SNV				1										PASS		.	.												T	4	4	10	27912104	27912104	G	T	1	0	0	0	0	0	1	0	0	11068	963	34	2		2	OR2B2	6	27912104	Nonsense_Mutation	SNP	G	C3L-00095_TP	600176	27912104	142893875	288	3669											
OR2J3	0	.	GRCh38	chr6	29112403	29112403	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccttctgggtacctctGtgtggacaccgccaagtaga	8	11	10	12	1	3	1	1	0	2	1	3	2	3	2	4	2	1	2	4	2	3	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.513G>T	p.=	p.L171L	ENST00000377169	1/1	256	224	32	314	313	1	strelka-varscan	OR2J3,synonymous_variant,p.=,ENST00000377169,NM_001005216.3;	T	ENST00000377169	Transcript	synonymous_variant	513/936	513/936	171/311	L	ctG/ctT		1		1	OR2J3	HGNC	HGNC:8261	protein_coding	YES	CCDS43433.1	ENSP00000366374	O76001	A0A126GWT2	UPI000014073A	NM_001005216.3			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF209,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	10	29112403	29112403	G	T	1	0	0	0	0	0	0	0	1	11082	1364	48	2		2	OR2J3	6	29112403	Silent	SNP	G	C3L-00095_TP	1200299	29112403	141693576	289	3670											
OR2J2	0	.	GRCh38	chr6	29174443	29174443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcagaaaattctcctGatcagggcaagttcattgcc	12	10	7	12	0	4	2	3	1	1	1	5	2	4	2	3	1	1	2	3	1	3	3	rs761974714		C3L-00095_TP	C3L-00095_NB	G	G																c.808G>T	p.Asp270Tyr	p.D270Y	ENST00000377167	1/1	214	189	25	204	203	1	strelka-varscan	OR2J2,missense_variant,p.Asp270Tyr,ENST00000377167,NM_030905.2;	T	ENST00000377167	Transcript	missense_variant	1141/1272	808/939	270/312	D/Y	Gat/Tat	rs761974714	1		1	OR2J2	HGNC	HGNC:8260	protein_coding	YES	CCDS43434.1	ENSP00000366372	O76002	A0A126GWS4	UPI000004B9D1	NM_030905.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF184,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	10	29174443	29174443	G	T	1	0	0	0	0	1	0	0	0	11081	1290	45	2		2	OR2J2	6	29174443	Missense_Mutation	SNP	G	C3L-00095_TP	62040	29174443	141631536	290	3671											
MDC1	0	.	GRCh38	chr6	30705436	30705436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggtggaaggctggagCtcaggggctgtggggacaac	8	6	21	6	0	1	0	1	0	0	0	1	4	1	4	0	9	2	3	0	9	2	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.3747G>T	p.Glu1249Asp	p.E1249D	ENST00000376406	10/15	74	70	4	137	137	0	varscan-mutect	MDC1,missense_variant,p.Glu1249Asp,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,;	A	ENST00000376406	Transcript	missense_variant	4395/7576	3747/6270	1249/2089	E/D	gaG/gaT		1		-1	MDC1	HGNC	HGNC:21163	protein_coding	YES	CCDS34384.1	ENSP00000365588	Q14676		UPI00001AF453	NM_014641.2	deleterious(0.04)		10/15		hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF1																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	10	30705436	30705436	C	A	1	0	0	0	0	1	0	0	0	9341	796	28	2		2	MDC1	6	30705436	Missense_Mutation	SNP	C	C3L-00095_TP	1530993	30705436	140100543	291	3672											
C2	0	.	GRCh38	chr6	31943657	31943657	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttccaggagaccccaaatcCcagtggggcaaagaattcct	12	8	9	12	0	0	2	0	0	0	2	3	3	3	2	5	3	0	1	5	3	3	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1122C>A	p.=	p.S374S	ENST00000456570	10/30	350	320	30	437	437	0	strelka-varscan-mutect	XXbac-BPG116M5.17,synonymous_variant,p.=,ENST00000456570,;XXbac-BPG116M5.17,synonymous_variant,p.=,ENST00000477310,;C2,synonymous_variant,p.=,ENST00000299367,NM_001282458.1,NM_000063.5;C2,synonymous_variant,p.=,ENST00000442278,NM_001145903.2;C2,synonymous_variant,p.=,ENST00000452323,NM_001178063.2;C2,synonymous_variant,p.=,ENST00000469372,NM_001282457.1;C2,synonymous_variant,p.=,ENST00000383177,;C2,synonymous_variant,p.=,ENST00000497706,;CFB,upstream_gene_variant,,ENST00000425368,NM_001710.5;CFB,upstream_gene_variant,,ENST00000475617,;C2-AS1,upstream_gene_variant,,ENST00000630806,;CFB,upstream_gene_variant,,ENST00000497841,;C2,upstream_gene_variant,,ENST00000468407,;C2,3_prime_UTR_variant,,ENST00000482060,;C2,3_prime_UTR_variant,,ENST00000485690,;C2,non_coding_transcript_exon_variant,,ENST00000486124,;CFB,upstream_gene_variant,,ENST00000452035,;CFB,upstream_gene_variant,,ENST00000461483,;CFB,upstream_gene_variant,,ENST00000472581,;CFB,upstream_gene_variant,,ENST00000460718,;CFB,upstream_gene_variant,,ENST00000465750,;CFB,upstream_gene_variant,,ENST00000482886,;	A	ENST00000456570	Transcript	synonymous_variant	1177/3874	1122/3801	374/1266	S	tcC/tcA		1		1	XXbac-BPG116M5.17	Clone_based_vega_gene		protein_coding	YES		ENSP00000410815		B4E1Z4	UPI00017A8869				10/30		PROSITE_profiles:PS50240,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494																	LOW		SNV	2			1										PASS		.	.												A	2	1	10	31943657	31943657	C	A	1	0	0	0	0	0	0	0	1	2001	610	22	2		2	C2	6	31943657	Silent	SNP	C	C3L-00095_TP	1238221	31943657	138862322	292	3673											
EGFL8	0	.	GRCh38	chr6	32167355	32167355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcctttgtccctagttcggGaggcggaaaaagatgagcgc	9	9	13	10	3	0	2	0	1	0	1	3	4	2	4	2	3	1	1	2	3	3	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.607G>A	p.Glu203Lys	p.E203K	ENST00000395512	7/9	228	210	18	281	281	0	strelka-varscan-mutect	EGFL8,missense_variant,p.Glu203Lys,ENST00000395512,;EGFL8,missense_variant,p.Glu203Lys,ENST00000333845,NM_030652.3;EGFL8,missense_variant,p.Glu183Lys,ENST00000432129,;AGPAT1,downstream_gene_variant,,ENST00000395499,;AGPAT1,downstream_gene_variant,,ENST00000375107,NM_006411.3;AGPAT1,downstream_gene_variant,,ENST00000395497,;PPT2,downstream_gene_variant,,ENST00000395523,;AGPAT1,downstream_gene_variant,,ENST00000395496,;PPT2,downstream_gene_variant,,ENST00000324816,NM_001204103.1,NM_005155.6;AGPAT1,downstream_gene_variant,,ENST00000336984,NM_032741.4;AGPAT1,downstream_gene_variant,,ENST00000375104,;PPT2,downstream_gene_variant,,ENST00000375137,;PPT2,downstream_gene_variant,,ENST00000361568,NM_138717.2;PPT2,downstream_gene_variant,,ENST00000375143,;AGPAT1,downstream_gene_variant,,ENST00000617181,;AGPAT1,downstream_gene_variant,,ENST00000490711,;PPT2-EGFL8,downstream_gene_variant,,ENST00000453656,;PPT2,downstream_gene_variant,,ENST00000493548,;AGPAT1,downstream_gene_variant,,ENST00000476663,;EGFL8,upstream_gene_variant,,ENST00000489721,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000422437,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000428388,;EGFL8,non_coding_transcript_exon_variant,,ENST00000466239,;PPT2-EGFL8,downstream_gene_variant,,ENST00000583227,;PPT2-EGFL8,downstream_gene_variant,,ENST00000585246,;PPT2-EGFL8,downstream_gene_variant,,ENST00000421600,;PPT2-EGFL8,downstream_gene_variant,,ENST00000479001,;EGFL8,downstream_gene_variant,,ENST00000482938,;	A	ENST00000395512	Transcript	missense_variant	712/1312	607/882	203/293	E/K	Gag/Aag		1		1	EGFL8	HGNC	HGNC:13944	protein_coding	YES	CCDS4743.1	ENSP00000378888	Q99944		UPI000006FB40		tolerated(0.11)		7/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14949:SF27,hmmpanther:PTHR14949																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	32167355	32167355	G	A	1	0	0	0	0	1	0	0	0	4801	1188	41	3		3	EGFL8	6	32167355	Missense_Mutation	SNP	G	C3L-00095_TP	223698	32167355	138638624	293	3674											
DAXX	0	.	GRCh38	chr6	33321916	33321916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcacgatgatgctgttagCggtggccataggggatcaaa	11	8	14	8	2	1	1	1	1	0	0	1	3	1	2	1	4	3	3	1	4	3	2			C3L-00095_TP	C3L-00095_NB	C	C																c.10G>T	p.Ala4Ser	p.A4S	ENST00000374542	2/8	107	98	9	162	162	0	strelka-varscan-mutect	DAXX,missense_variant,p.Ala4Ser,ENST00000374542,NM_001141969.1,NM_001141970.1,NM_001350.4;DAXX,missense_variant,p.Ala4Ser,ENST00000266000,;DAXX,missense_variant,p.Ala4Ser,ENST00000620164,;DAXX,missense_variant,p.Ala4Ser,ENST00000453407,;DAXX,missense_variant,p.Ala4Ser,ENST00000446403,;DAXX,missense_variant,p.Ala4Ser,ENST00000446511,;DAXX,intron_variant,,ENST00000414083,NM_001254717.1;ZBTB22,upstream_gene_variant,,ENST00000431845,NM_005453.4;ZBTB22,upstream_gene_variant,,ENST00000418724,NM_001145338.1;ZBTB22,upstream_gene_variant,,ENST00000441117,;DAXX,intron_variant,,ENST00000468536,;DAXX,intron_variant,,ENST00000477370,;DAXX,upstream_gene_variant,,ENST00000477162,;DAXX,downstream_gene_variant,,ENST00000494082,;DAXX,non_coding_transcript_exon_variant,,ENST00000498030,;DAXX,upstream_gene_variant,,ENST00000490173,;	A	ENST00000374542	Transcript	missense_variant	215/2613	10/2223	4/740	A/S	Gct/Tct	COSM3349831	1		-1	DAXX	HGNC	HGNC:2681	protein_coding	YES	CCDS4776.1	ENSP00000363668	Q9UER7	A0A024RCS3	UPI0000128ED8	NM_001141969.1,NM_001141970.1,NM_001350.4	tolerated(0.11)		2/8		hmmpanther:PTHR12766											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	10	33321916	33321916	C	A	1	0	0	0	0	1	0	0	0	4044	768	27	1		1	DAXX	6	33321916	Missense_Mutation	SNP	C	C3L-00095_TP	1154561	33321916	137484063	294	3675											
CMTR1	0	.	GRCh38	chr6	37458668	37458668	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttgctgatgtctgcgcAggcccaggtggcttctcaga	6	12	12	11	1	2	2	1	1	2	1	3	2	2	2	1	3	3	3	1	3	1	3	rs771664404		C3L-00095_TP	C3L-00095_NB	A	A																c.834A>T	p.=	p.A278A	ENST00000373451	9/24	374	351	23	458	458	0	strelka-varscan-mutect	CMTR1,synonymous_variant,p.=,ENST00000373451,NM_015050.2;CMTR1,synonymous_variant,p.=,ENST00000455891,;CMTR1,upstream_gene_variant,,ENST00000493656,;	T	ENST00000373451	Transcript	synonymous_variant	998/4033	834/2508	278/835	A	gcA/gcT	rs771664404	1		1	CMTR1	HGNC	HGNC:21077	protein_coding	YES	CCDS4835.1	ENSP00000362550	Q8N1G2		UPI00000700C2	NM_015050.2			9/24		PROSITE_profiles:PS51613,hmmpanther:PTHR16121:SF0,hmmpanther:PTHR16121,Gene3D:3.40.50.150,Pfam_domain:PF01728,Superfamily_domains:SSF53335																	LOW	1	SNV	1			1										PASS		rs771664404	.												T	2	4	10	37458668	37458668	A	T	1	0	0	0	0	0	0	0	1	3366	175	7	4		4	CMTR1	6	37458668	Silent	SNP	A	C3L-00095_TP	4136752	37458668	133347311	295	3676											
UBR2	0	.	GRCh38	chr6	42658115	42658115	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctagaagtccacaaagacatGattcggtggatattgaaggt	14	10	11	6	1	0	4	0	2	0	2	2	5	1	5	1	3	0	0	1	3	5	4	rs765852315		C3L-00095_TP	C3L-00095_NB	G	G																c.2964G>C	p.Met988Ile	p.M988I	ENST00000372899	27/47	162	152	10	153	153	0	strelka-varscan-mutect	UBR2,missense_variant,p.Met988Ile,ENST00000372899,NM_015255.2;UBR2,missense_variant,p.Met988Ile,ENST00000372901,;	C	ENST00000372899	Transcript	missense_variant	3222/7857	2964/5268	988/1755	M/I	atG/atC	rs765852315	1		1	UBR2	HGNC	HGNC:21289	protein_coding	YES	CCDS4870.1	ENSP00000361990	Q8IWV8		UPI0000074466	NM_015255.2	deleterious(0.02)		27/47		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28																	MODERATE	1	SNV	1			1										PASS		rs765852315	.												C	3	2	10	42658115	42658115	G	C	1	0	0	0	0	1	0	0	0	17426	1290	45	4		4	UBR2	6	42658115	Missense_Mutation	SNP	G	C3L-00095_TP	5199447	42658115	128147864	296	3677											
PTK7	0	.	GRCh38	chr6	43158827	43158827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctctccaggtggccctatGcacccaggtagccctgggca	7	8	11	15	0	1	0	0	0	1	0	3	0	2	0	4	4	2	3	4	4	2	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2756G>T	p.Cys919Phe	p.C919F	ENST00000481273	18/20	136	127	9	170	170	0	varscan-mutect	PTK7,missense_variant,p.Cys911Phe,ENST00000230419,NM_002821.4;PTK7,missense_variant,p.Cys871Phe,ENST00000345201,NM_152880.3;PTK7,missense_variant,p.Cys855Phe,ENST00000352931,NM_152882.3;PTK7,missense_variant,p.Cys781Phe,ENST00000349241,NM_152881.3;PTK7,missense_variant,p.Cys919Phe,ENST00000481273,NM_001270398.1;PTK7,missense_variant,p.Cys206Phe,ENST00000489707,;PTK7,missense_variant,p.Cys179Phe,ENST00000473339,;PTK7,3_prime_UTR_variant,,ENST00000470019,;PTK7,3_prime_UTR_variant,,ENST00000230418,;PTK7,3_prime_UTR_variant,,ENST00000461389,;PTK7,non_coding_transcript_exon_variant,,ENST00000487673,;	T	ENST00000481273	Transcript	missense_variant	2826/3436	2756/3237	919/1078	C/F	tGc/tTc		1		1	PTK7	HGNC	HGNC:9618	protein_coding	YES	CCDS59021.1	ENSP00000418754	Q13308		UPI0001B79423	NM_001270398.1	deleterious(0)		18/20		PROSITE_profiles:PS50011,hmmpanther:PTHR26391,hmmpanther:PTHR26391:SF15,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	10	43158827	43158827	G	T	1	0	0	0	0	1	0	0	0	12921	1319	46	2		2	PTK7	6	43158827	Missense_Mutation	SNP	G	C3L-00095_TP	500712	43158827	127647152	297	3678											
CRISP1	0	.	GRCh38	chr6	49838464	49838464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgtcttcacagttacttgGgcaggcttcacatgggacgc	7	13	11	10	1	3	0	2	0	1	0	3	1	3	1	0	3	1	3	0	3	1	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.595C>A	p.Pro199Thr	p.P199T	ENST00000335847	7/8	167	142	25	156	156	0	strelka-varscan	CRISP1,missense_variant,p.Pro199Thr,ENST00000335847,NM_001131.2;CRISP1,missense_variant,p.Pro199Thr,ENST00000505118,NM_001205220.1;CRISP1,intron_variant,,ENST00000507853,NM_170609.1;CRISP1,intron_variant,,ENST00000329411,;	T	ENST00000335847	Transcript	missense_variant	697/1911	595/750	199/249	P/T	Cca/Aca		1		-1	CRISP1	HGNC	HGNC:304	protein_coding	YES	CCDS4931.1	ENSP00000338276	P54107	A0A0K0K1I1	UPI0000128482	NM_001131.2	deleterious(0)		7/8		hmmpanther:PTHR10334:SF213,hmmpanther:PTHR10334,Gene3D:3.40.33.10,Pfam_domain:PF08562,Superfamily_domains:SSF57546																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	49838464	49838464	G	T	1	0	0	0	0	1	0	0	0	3680	1232	43	2		2	CRISP1	6	49838464	Missense_Mutation	SNP	G	C3L-00095_TP	6679637	49838464	120967515	298	3679											
TFAP2B	0	.	GRCh38	chr6	50823829	50823829	+	Frame_Shift_Del	DEL	G	G	-																															atgggtgacagcctctcgctGcacggcctcggccatcccgg																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.504delG	p.His169ThrfsTer22	p.H169Tfs*22	ENST00000393655	2/7	219	192	27	323	323	0	sindel-varindel	TFAP2B,frameshift_variant,p.His169ThrfsTer22,ENST00000393655,NM_003221.3;TFAP2B,frameshift_variant,p.His167ThrfsTer22,ENST00000344788,;TFAP2B,non_coding_transcript_exon_variant,,ENST00000489228,;	-	ENST00000393655	Transcript	frameshift_variant	673/5773	504/1383	168/460	L/X	ctG/ct		1		1	TFAP2B	HGNC	HGNC:11743	protein_coding	YES	CCDS4934.2	ENSP00000377265	Q92481		UPI000020DE90	NM_003221.3			2/7		Prints_domain:PR01750,hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF14																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	10	50823829	50823829	G	-	1	0	1	0	1	0	0	0	0	16221	1306	46	0		0	TFAP2B	6	50823829	Frame_Shift_Del	DEL	G	C3L-00095_TP	985365	50823829	119982150	299	3680											
ADGRB3	0	.	GRCh38	chr6	68639386	68639386	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acccaggagctgcaaaccacCcaagtctgcaatcttaccag	13	6	7	15	0	2	0	0	0	2	0	2	1	2	1	4	1	5	3	4	1	4	1	rs267601101		C3L-00095_TP	C3L-00095_NB	C	C																c.711C>A	p.=	p.T237T	ENST00000370598	3/32	85	77	8	88	88	0	strelka-varscan	ADGRB3,synonymous_variant,p.=,ENST00000370598,NM_001704.2;ADGRB3,synonymous_variant,p.=,ENST00000546190,;RP3-525N10.2,upstream_gene_variant,,ENST00000604392,;RP3-525N10.2,upstream_gene_variant,,ENST00000603261,;	A	ENST00000370598	Transcript	synonymous_variant	1532/6010	711/4569	237/1522	T	acC/acA	rs267601101,COSM22122	1		1	ADGRB3	HGNC	HGNC:945	protein_coding	YES	CCDS4968.1	ENSP00000359630	O60242		UPI00001AE6A9	NM_001704.2			3/32													0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												A	2	1	10	68639386	68639386	C	A	1	0	0	0	0	0	0	0	1	357	610	22	2		2	ADGRB3	6	68639386	Silent	SNP	C	C3L-00095_TP	17815557	68639386	102166593	300	3681											
COL12A1	0	.	GRCh38	chr6	75121443	75121443	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttggcccctttgcatacTgcaaaaaaagaaagcagagg	14	7	10	10	0	0	2	0	0	0	2	0	2	0	2	3	2	4	3	3	2	5	3	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.6947-2A>T		p.X2316_splice	ENST00000322507		71	67	4	84	84	0	strelka-varscan	COL12A1,splice_acceptor_variant,,ENST00000322507,NM_004370.5;COL12A1,splice_acceptor_variant,,ENST00000615798,;COL12A1,splice_acceptor_variant,,ENST00000483888,;COL12A1,splice_acceptor_variant,,ENST00000416123,;COL12A1,splice_acceptor_variant,,ENST00000345356,NM_080645.2;COL12A1,upstream_gene_variant,,ENST00000425443,;COL12A1,upstream_gene_variant,,ENST00000493109,;	A	ENST00000322507	Transcript	splice_acceptor_variant	-/11723	6947/9192	2316/3063				1		-1	COL12A1	HGNC	HGNC:2188	protein_coding	YES	CCDS43482.1	ENSP00000325146	Q99715		UPI000045890B	NM_004370.5				43/65																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	10	75121443	75121443	T	A	1	0	0	0	0	0	0	1	0	3457	1594	55	4		4	COL12A1	6	75121443	Splice_Site	SNP	T	C3L-00095_TP	6482057	75121443	95684536	301	3682											
ME1	0	.	GRCh38	chr6	83239608	83239608	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttattcgaagagctgcaagGagacctgcaactgcaacaga	14	7	11	9	1	0	3	0	0	0	3	1	5	0	3	1	1	6	5	1	1	5	2			C3L-00095_TP	C3L-00095_NB	G	G																c.843C>A	p.=	p.L281L	ENST00000369705	8/14	164	145	19	201	201	0	strelka-varscan	ME1,synonymous_variant,p.=,ENST00000369705,NM_002395.5;	T	ENST00000369705	Transcript	synonymous_variant	960/3371	843/1719	281/572	L	ctC/ctA	COSM4510638	1		-1	ME1	HGNC	HGNC:6983	protein_coding	YES	CCDS34492.1	ENSP00000358719	P48163		UPI000000127E	NM_002395.5			8/14		Gene3D:3.40.50.720,Pfam_domain:PF03949,PIRSF_domain:PIRSF000106,Prints_domain:PR00072,PROSITE_patterns:PS00331,hmmpanther:PTHR23406,hmmpanther:PTHR23406:SF17,Low_complexity_(Seg):seg,SMART_domains:SM00919,Superfamily_domains:SSF51735											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	10	83239608	83239608	G	T	1	0	0	0	0	0	0	0	1	9356	1161	41	2		2	ME1	6	83239608	Silent	SNP	G	C3L-00095_TP	8118165	83239608	87566371	302	3683											
TBX18	0	.	GRCh38	chr6	84760279	84760279	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttttgttgtccactggtAcaatatccatggcaatgtaa	11	15	7	8	0	1	0	0	0	1	0	3	0	3	0	2	2	1	4	2	2	5	6	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.575T>A	p.Val192Glu	p.V192E	ENST00000369663	3/8	155	138	17	155	155	0	strelka-varscan	TBX18,missense_variant,p.Val192Glu,ENST00000369663,NM_001080508.2;TBX18,missense_variant,p.Val34Glu,ENST00000606784,;TBX18,missense_variant,p.Val34Glu,ENST00000606325,;TBX18,downstream_gene_variant,,ENST00000606621,;TBX18,non_coding_transcript_exon_variant,,ENST00000606521,;	T	ENST00000369663	Transcript	missense_variant	913/6245	575/1824	192/607	V/E	gTa/gAa		1		-1	TBX18	HGNC	HGNC:11595	protein_coding	YES	CCDS34495.1	ENSP00000358677	O95935		UPI00001A3A8A	NM_001080508.2	deleterious(0.02)		3/8		PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF20,Pfam_domain:PF00907,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	84760279	84760279	A	T	1	0	0	0	0	1	0	0	0	16058	391	14	4		4	TBX18	6	84760279	Missense_Mutation	SNP	A	C3L-00095_TP	1520671	84760279	86045700	303	3684											
SOBP	0	.	GRCh38	chr6	107635400	107635400	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgcccatgctcagcgcCgggcctgaggacctggagcc	5	6	13	17	3	1	1	1	1	0	0	3	3	2	3	6	3	3	1	6	3	0	0	rs768485665		C3L-00095_TP	C3L-00095_NB	C	C																c.2556C>A	p.=	p.A852A	ENST00000317357	6/7	317	297	20	412	411	1	strelka-varscan-mutect	SOBP,synonymous_variant,p.=,ENST00000317357,NM_018013.3;SOBP,non_coding_transcript_exon_variant,,ENST00000494935,;	A	ENST00000317357	Transcript	synonymous_variant	3215/5245	2556/2622	852/873	A	gcC/gcA	rs768485665	1		1	SOBP	HGNC	HGNC:29256	protein_coding	YES	CCDS43488.1	ENSP00000318900	A7XYQ1		UPI0000E6A8ED	NM_018013.3			6/7		hmmpanther:PTHR23186:SF2,hmmpanther:PTHR23186																	LOW	1	SNV	5			1										PASS		rs768485665	.												A	2	1	10	107635400	107635400	C	A	1	0	0	0	0	0	0	0	1	15233	639	23	1		1	SOBP	6	107635400	Silent	SNP	C	C3L-00095_TP	22875121	107635400	63170579	304	3685											
FOXO3	0	.	GRCh38	chr6	108663969	108663969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaggcaccatgaatctgaAtgatgggctgactgaaaacc	13	7	12	9	0	1	5	0	5	1	0	1	5	1	5	2	3	1	3	2	3	4	0	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.1136A>G	p.Asn379Ser	p.N379S	ENST00000406360	2/3	132	124	8	224	223	1	varscan-mutect	FOXO3,missense_variant,p.Asn379Ser,ENST00000406360,NM_001455.3;FOXO3,missense_variant,p.Asn379Ser,ENST00000343882,NM_201559.2;FOXO3,missense_variant,p.Asn159Ser,ENST00000540898,;	G	ENST00000406360	Transcript	missense_variant	1479/7341	1136/2022	379/673	N/S	aAt/aGt		1		1	FOXO3	HGNC	HGNC:3821	protein_coding	YES	CCDS5068.1	ENSP00000385824	O43524		UPI000012ADEA	NM_001455.3	deleterious(0.04)		2/3		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF97																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	108663969	108663969	A	G	1	0	0	0	0	1	0	0	0	5888	101	4	5		5	FOXO3	6	108663969	Missense_Mutation	SNP	A	C3L-00095_TP	1028569	108663969	62142010	305	3686											
FIG4	0	.	GRCh38	chr6	109825212	109825212	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtatcatgcagcccctaGgaaaagaggactcctccatg	13	7	10	11	0	1	1	1	0	0	1	3	3	3	3	4	3	2	2	4	3	5	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2671G>T	p.Gly891Ter	p.G891*	ENST00000230124	23/23	260	239	21	270	269	1	strelka-varscan-mutect	FIG4,stop_gained,p.Gly891Ter,ENST00000230124,NM_014845.5;RP1-249I4.2,upstream_gene_variant,,ENST00000458693,;	T	ENST00000230124	Transcript	stop_gained	2795/3011	2671/2724	891/907	G/*	Gga/Tga		1		1	FIG4	HGNC	HGNC:16873	protein_coding	YES	CCDS5078.1	ENSP00000230124	Q92562		UPI000000D9A3	NM_014845.5			23/23		hmmpanther:PTHR11200:SF9,hmmpanther:PTHR11200																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	10	109825212	109825212	G	T	1	0	0	0	0	0	1	0	0	5753	1001	35	2		2	FIG4	6	109825212	Nonsense_Mutation	SNP	G	C3L-00095_TP	1161243	109825212	60980767	306	3687											
SLC22A16	0	.	GRCh38	chr6	110442701	110442701	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaatgcaaatggacagaCgcccatgtccgagacttcat	14	7	10	10	2	1	2	1	0	0	2	2	5	2	4	2	2	1	1	2	2	3	1	rs544491266		C3L-00095_TP	C3L-00095_NB	C	C																c.726G>T	p.=	p.A242A	ENST00000368919	4/8	227	214	13	268	268	0	strelka-varscan	SLC22A16,synonymous_variant,p.=,ENST00000330550,;SLC22A16,synonymous_variant,p.=,ENST00000368919,NM_033125.3;SLC22A16,synonymous_variant,p.=,ENST00000451557,;SLC22A16,synonymous_variant,p.=,ENST00000437378,;SLC22A16,synonymous_variant,p.=,ENST00000434949,;SLC22A16,downstream_gene_variant,,ENST00000424139,;RN7SL617P,upstream_gene_variant,,ENST00000485298,;	A	ENST00000368919	Transcript	synonymous_variant	793/1987	726/1734	242/577	A	gcG/gcT	rs544491266	1		-1	SLC22A16	HGNC	HGNC:20302	protein_coding	YES	CCDS5084.1	ENSP00000357915	Q86VW1	A0A0K0K1K9	UPI000000DC13	NM_033125.3			4/8		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF186,Gene3D:1.20.1250.20,Pfam_domain:PF00083,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	110442701	110442701	C	A	1	0	0	0	0	0	0	0	1	14713	523	19	1		1	SLC22A16	6	110442701	Silent	SNP	C	C3L-00095_TP	617489	110442701	60363278	307	3688											
DSE	0	.	GRCh38	chr6	116433436	116433436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgataaatttgtcatgcGtaatggcagtggtaactggc	10	13	11	7	1	1	1	1	1	0	0	1	1	1	1	1	3	2	3	1	3	4	5	rs371480627		C3L-00095_TP	C3L-00095_NB	G	G																c.1004G>A	p.Arg335His	p.R335H	ENST00000452085	5/6	317	296	21	332	332	0	strelka-varscan-mutect	DSE,missense_variant,p.Arg335His,ENST00000452085,NM_001080976.1;DSE,missense_variant,p.Arg335His,ENST00000331677,;DSE,missense_variant,p.Arg335His,ENST00000359564,NM_013352.2;DSE,non_coding_transcript_exon_variant,,ENST00000606712,;	A	ENST00000452085	Transcript	missense_variant	1198/10586	1004/2877	335/958	R/H	cGt/cAt	rs371480627	1		1	DSE	HGNC	HGNC:21144	protein_coding	YES	CCDS5107.1	ENSP00000404049	Q9UL01		UPI0000073CB8	NM_001080976.1	deleterious(0.01)		5/6		hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF3																	MODERATE	1	SNV	1			1										PASS		rs371480627	.												A	3	1	10	116433436	116433436	G	A	1	0	0	0	0	1	0	0	0	4595	1145	40	1		1	DSE	6	116433436	Missense_Mutation	SNP	G	C3L-00095_TP	5990735	116433436	54372543	308	3689											
GPRC6A	0	.	GRCh38	chr6	116807187	116807187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtcactcaggatttctGcagttgattcataacccacc	9	15	6	11	0	4	1	3	1	1	0	4	2	4	2	2	1	2	2	2	1	1	6	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.518C>A	p.Ala173Glu	p.A173E	ENST00000310357	3/6	73	67	6	90	90	0	strelka-varscan-mutect	GPRC6A,missense_variant,p.Ala173Glu,ENST00000310357,NM_148963.3;GPRC6A,missense_variant,p.Ala173Glu,ENST00000368549,NM_001286355.1;GPRC6A,missense_variant,p.Ala173Glu,ENST00000530250,NM_001286354.1;	T	ENST00000310357	Transcript	missense_variant	540/2860	518/2781	173/926	A/E	gCa/gAa		1		-1	GPRC6A	HGNC	HGNC:18510	protein_coding	YES	CCDS5112.1	ENSP00000309493	Q5T6X5		UPI000013EFF9	NM_148963.3	deleterious(0.01)		3/6		hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF5,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	116807187	116807187	G	T	1	0	0	0	0	1	0	0	0	6607	1319	46	2		2	GPRC6A	6	116807187	Missense_Mutation	SNP	G	C3L-00095_TP	373751	116807187	53998792	309	3690											
TAAR8	0	.	GRCh38	chr6	132553309	132553309	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagattttctgttattctTcatacctacccttgttatga	9	19	5	8	0	3	2	1	1	2	1	3	3	3	2	2	0	2	2	2	0	5	10	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.617T>C	p.Phe206Ser	p.F206S	ENST00000275200	1/1	192	175	17	224	224	0	strelka-varscan-mutect	TAAR8,missense_variant,p.Phe206Ser,ENST00000275200,NM_053278.1;	C	ENST00000275200	Transcript	missense_variant	617/1029	617/1029	206/342	F/S	tTc/tCc		1		1	TAAR8	HGNC	HGNC:14964	protein_coding	YES	CCDS5154.1	ENSP00000275200	Q969N4		UPI000000D87F	NM_053278.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF272,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs764847735	.												C	3	2	10	132553309	132553309	T	C	1	0	0	0	0	1	0	0	0	15889	1783	62	5		5	TAAR8	6	132553309	Missense_Mutation	SNP	T	C3L-00095_TP	15746122	132553309	38252670	310	3691											
VNN1	0	.	GRCh38	chr6	132693189	132693189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaatctttcaccaaggtaaCagcaggatcatggaagagta	16	8	10	7	0	3	1	2	0	1	1	3	4	3	3	1	3	2	3	1	3	5	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.661G>T	p.Val221Phe	p.V221F	ENST00000367928	4/7	183	171	12	202	202	0	strelka-varscan	VNN1,missense_variant,p.Val221Phe,ENST00000367928,NM_004666.2;	A	ENST00000367928	Transcript	missense_variant	675/3106	661/1542	221/513	V/F	Gtt/Ttt		1		-1	VNN1	HGNC	HGNC:12705	protein_coding	YES	CCDS5159.1	ENSP00000356905	O95497		UPI000013C91E	NM_004666.2	deleterious(0)		4/7		PROSITE_profiles:PS50263,hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF16,PIRSF_domain:PIRSF011861,Pfam_domain:PF00795,Gene3D:3.60.110.10,Superfamily_domains:SSF56317																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	132693189	132693189	C	A	1	0	0	0	0	1	0	0	0	17729	478	17	2		2	VNN1	6	132693189	Missense_Mutation	SNP	C	C3L-00095_TP	139880	132693189	38112790	311	3692											
IFNGR1	0	.	GRCh38	chr6	137198371	137198371	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttaaaggtgaagaactcTctctctctattggagtcaga	12	13	8	8	0	4	3	1	1	3	2	6	4	4	4	0	2	2	0	0	2	6	4	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.1130A>C	p.Glu377Ala	p.E377A	ENST00000367739	7/7	135	127	8	154	154	0	strelka-varscan	IFNGR1,missense_variant,p.Glu377Ala,ENST00000367739,NM_000416.2;	G	ENST00000367739	Transcript	missense_variant	1252/2139	1130/1470	377/489	E/A	gAg/gCg		1		-1	IFNGR1	HGNC	HGNC:5439	protein_coding	YES	CCDS5185.1	ENSP00000356713	P15260	A0A0S2Z3Y2	UPI000002CE40	NM_000416.2	tolerated(0.12)		7/7		Low_complexity_(Seg):seg,hmmpanther:PTHR20859:SF5,hmmpanther:PTHR20859																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	137198371	137198371	T	G	1	0	0	0	0	1	0	0	0	7449	1551	54	5		5	IFNGR1	6	137198371	Missense_Mutation	SNP	T	C3L-00095_TP	4505182	137198371	33607608	312	3693											
ARFGEF3	0	.	GRCh38	chr6	138291970	138291970	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggaaggcagccggggtcgGgcctccgacttccgcggcgg	4	4	19	14	7	0	0	0	0	0	0	3	2	2	1	4	7	1	1	4	7	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.3285G>T	p.=	p.R1095R	ENST00000251691	19/34	47	42	5	80	80	0	strelka-varscan	ARFGEF3,synonymous_variant,p.=,ENST00000251691,NM_020340.4;	T	ENST00000251691	Transcript	synonymous_variant	3451/14877	3285/6534	1095/2177	R	cgG/cgT		1		1	ARFGEF3	HGNC	HGNC:21213	protein_coding	YES	CCDS5189.2	ENSP00000251691	Q5TH69		UPI000150AF4A	NM_020340.4			19/34																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	138291970	138291970	G	T	1	0	0	0	0	0	0	0	1	977	1219	43	2		2	ARFGEF3	6	138291970	Silent	SNP	G	C3L-00095_TP	1093599	138291970	32514009	313	3694											
ADGRG6	0	.	GRCh38	chr6	142415919	142415919	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggatggactttgcatTgctgttgcagtcctgttgca	7	15	12	7	0	0	0	0	0	0	0	1	2	1	2	1	2	4	6	1	2	1	4	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.2793T>A	p.=	p.I931I	ENST00000367609	20/25	402	370	32	484	484	0	strelka-varscan	ADGRG6,synonymous_variant,p.=,ENST00000230173,NM_020455.5;ADGRG6,synonymous_variant,p.=,ENST00000367609,NM_198569.2;ADGRG6,synonymous_variant,p.=,ENST00000367608,NM_001032395.2;ADGRG6,synonymous_variant,p.=,ENST00000296932,NM_001032394.2;ADGRG6,upstream_gene_variant,,ENST00000472054,;ADGRG6,downstream_gene_variant,,ENST00000540208,;	A	ENST00000367609	Transcript	synonymous_variant	3194/6887	2793/3753	931/1250	I	atT/atA		1		1	ADGRG6	HGNC	HGNC:13841	protein_coding	YES	CCDS47489.1	ENSP00000356581	Q86SQ4		UPI000022CCE4	NM_198569.2			20/25		Gene3D:1.20.1070.10,Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF290,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	142415919	142415919	T	A	1	0	0	0	0	0	0	0	1	373	1800	63	4		4	ADGRG6	6	142415919	Silent	SNP	T	C3L-00095_TP	4123949	142415919	28390060	314	3695											
AKAP12	0	.	GRCh38	chr6	151352525	151352525	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagctcctccagacagtGaatgtgcccatcatagatgg	12	8	10	11	0	1	3	1	1	0	2	3	3	3	3	3	1	3	2	3	1	3	1			C3L-00095_TP	C3L-00095_NB	G	G																c.4134G>T	p.=	p.V1378V	ENST00000402676	4/5	279	265	14	355	355	0	strelka-varscan	AKAP12,synonymous_variant,p.=,ENST00000402676,NM_005100.3;AKAP12,synonymous_variant,p.=,ENST00000253332,;AKAP12,synonymous_variant,p.=,ENST00000354675,NM_144497.2;AKAP12,synonymous_variant,p.=,ENST00000359755,;AKAP12,downstream_gene_variant,,ENST00000490177,;	T	ENST00000402676	Transcript	synonymous_variant	4374/8432	4134/5349	1378/1782	V	gtG/gtT	COSM3621474	1		1	AKAP12	HGNC	HGNC:370	protein_coding	YES	CCDS5229.1	ENSP00000384537	Q02952		UPI000013CDC7	NM_005100.3			4/5		hmmpanther:PTHR23209											1						LOW	1	SNV	5		1	1										PASS		.	.												T	2	4	10	151352525	151352525	G	T	1	0	0	0	0	0	0	0	1	531	1277	45	2		2	AKAP12	6	151352525	Silent	SNP	G	C3L-00095_TP	8936606	151352525	19453454	315	3696											
CCDC170	0	.	GRCh38	chr6	151593260	151593260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgagaacaagaccattGcccacaatttgcagagaaag	16	8	8	9	0	1	3	1	1	0	3	1	5	1	3	2	0	3	1	2	0	4	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1447G>A	p.Ala483Thr	p.A483T	ENST00000239374	8/11	183	171	12	238	238	0	strelka-varscan	CCDC170,missense_variant,p.Ala483Thr,ENST00000239374,NM_025059.3;CCDC170,non_coding_transcript_exon_variant,,ENST00000537358,;	A	ENST00000239374	Transcript	missense_variant	1546/5293	1447/2148	483/715	A/T	Gcc/Acc		1		1	CCDC170	HGNC	HGNC:21177	protein_coding	YES	CCDS43515.1	ENSP00000239374	Q8IYT3		UPI000020D0BA	NM_025059.3	tolerated(0.11)		8/11		hmmpanther:PTHR18863:SF4,hmmpanther:PTHR18863,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	151593260	151593260	G	A	1	0	0	0	0	1	0	0	0	2487	1319	46	3		3	CCDC170	6	151593260	Missense_Mutation	SNP	G	C3L-00095_TP	240735	151593260	19212719	316	3697											
ARID1B	0	.	GRCh38	chr6	157196179	157196179	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtgcctggaagcagcGagccctttatgacgcaagga	10	8	13	10	2	0	1	0	1	0	0	0	4	0	3	2	2	5	3	2	2	3	3	rs752398721		C3L-00095_TP	C3L-00095_NB	G	G																c.3877G>T	p.Glu1293Ter	p.E1293*	ENST00000346085	16/20	359	332	27	394	393	1	strelka-varscan	ARID1B,stop_gained,p.Glu1293Ter,ENST00000346085,NM_020732.3;ARID1B,stop_gained,p.Glu1333Ter,ENST00000636930,;ARID1B,stop_gained,p.Glu1280Ter,ENST00000350026,NM_017519.2;ARID1B,stop_gained,p.Glu802Ter,ENST00000414678,;ARID1B,stop_gained,p.Glu583Ter,ENST00000637904,;ARID1B,stop_gained,p.Glu523Ter,ENST00000635849,;ARID1B,stop_gained,p.Glu539Ter,ENST00000637015,;ARID1B,stop_gained,p.Glu530Ter,ENST00000637810,;ARID1B,stop_gained,p.Glu400Ter,ENST00000635957,;ARID1B,non_coding_transcript_exon_variant,,ENST00000637741,;ARID1B,3_prime_UTR_variant,,ENST00000637568,;ARID1B,non_coding_transcript_exon_variant,,ENST00000636227,;ARID1B,non_coding_transcript_exon_variant,,ENST00000636940,;ARID1B,upstream_gene_variant,,ENST00000636254,;	T	ENST00000346085	Transcript	stop_gained	4433/10194	3877/6750	1293/2249	E/*	Gag/Tag	rs752398721	1		1	ARID1B	HGNC	HGNC:18040	protein_coding	YES	CCDS55072.1	ENSP00000344546	Q8NFD5		UPI000058E4B2	NM_020732.3			16/20		hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	10	157196179	157196179	G	T	1	0	0	0	0	0	1	0	0	1050	1059	37	1		1	ARID1B	6	157196179	Nonsense_Mutation	SNP	G	C3L-00095_TP	5602919	157196179	13609800	317	3698											
SYNJ2	0	.	GRCh38	chr6	158033665	158033665	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacggccatgtgtccaacttCgtggagacagagcaggtgag	10	7	15	9	2	0	3	0	1	0	2	2	5	1	3	2	3	2	1	2	3	1	1	rs778933903		C3L-00095_TP	C3L-00095_NB	C	C																c.696C>T	p.=	p.F232F	ENST00000355585	4/27	76	70	6	125	125	0	strelka-varscan	SYNJ2,synonymous_variant,p.=,ENST00000355585,NM_003898.3,NM_001178088.1;SYNJ2,downstream_gene_variant,,ENST00000449320,;SYNJ2,downstream_gene_variant,,ENST00000367113,;SYNJ2,synonymous_variant,p.=,ENST00000485863,;	T	ENST00000355585	Transcript	synonymous_variant	771/7378	696/4491	232/1496	F	ttC/ttT	rs778933903,COSM1075392,COSM4399666	1		1	SYNJ2	HGNC	HGNC:11504	protein_coding	YES	CCDS5254.1	ENSP00000347792	O15056		UPI000006E2F8	NM_003898.3,NM_001178088.1			4/27		PROSITE_profiles:PS50275,hmmpanther:PTHR11200:SF148,hmmpanther:PTHR11200,Pfam_domain:PF02383											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		.	.												T	2	4	10	158033665	158033665	C	T	1	0	0	0	0	0	0	0	1	15847	883	31	1		1	SYNJ2	6	158033665	Silent	SNP	C	C3L-00095_TP	837486	158033665	12772314	318	3699											
MAP3K4	0	.	GRCh38	chr6	161048712	161048712	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	taagcaggagaaaaagatccGagcagctcttagaacaacag	18	5	10	8	1	1	3	0	0	1	3	2	5	2	3	1	1	5	3	1	1	6	2	rs200950731		C3L-00095_TP	C3L-00095_NB	G	G																c.440G>C	p.Arg147Pro	p.R147P	ENST00000392142	3/27	222	203	19	204	204	0	strelka-varscan-mutect	MAP3K4,missense_variant,p.Arg147Pro,ENST00000392142,NM_005922.3,NM_001291958.1;MAP3K4,missense_variant,p.Arg147Pro,ENST00000366920,NM_001301072.1;MAP3K4,missense_variant,p.Arg147Pro,ENST00000366919,NM_006724.3;MAP3K4,missense_variant,p.Arg147Pro,ENST00000348824,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000446500,;MAP3K4,missense_variant,p.Arg147Pro,ENST00000490904,;MAP3K4,missense_variant,p.Arg147Pro,ENST00000544041,;MAP3K4,intron_variant,,ENST00000542952,;	C	ENST00000392142	Transcript	missense_variant	588/5490	440/4827	147/1608	R/P	cGa/cCa	rs200950731	1		1	MAP3K4	HGNC	HGNC:6856	protein_coding	YES	CCDS34565.1	ENSP00000375986	Q9Y6R4		UPI00004574E1	NM_005922.3,NM_001291958.1	deleterious(0.01)		3/27																			MODERATE	1	SNV	1			1										PASS		rs200950731	.												C	3	2	10	161048712	161048712	G	C	1	0	0	0	0	1	0	0	0	9175	1058	37	4		4	MAP3K4	6	161048712	Missense_Mutation	SNP	G	C3L-00095_TP	3015047	161048712	9757267	319	3700											
AGPAT4	0	.	GRCh38	chr6	161232188	161232188	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggtggcacaggaactgaGacttcagcagtcccgcgagg	10	5	14	12	2	1	1	1	1	0	1	2	4	2	2	2	4	2	2	2	4	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.26C>G	p.Ser9Cys	p.S9C	ENST00000320285	2/9	143	133	10	181	181	0	strelka-varscan-mutect	AGPAT4,missense_variant,p.Ser9Cys,ENST00000320285,NM_020133.2;AGPAT4,missense_variant,p.Ser9Cys,ENST00000366911,;AGPAT4,missense_variant,p.Ser9Cys,ENST00000366905,;AGPAT4,missense_variant,p.Ser9Cys,ENST00000436279,;	C	ENST00000320285	Transcript	missense_variant	239/7865	26/1137	9/378	S/C	tCt/tGt		1		-1	AGPAT4	HGNC	HGNC:20885	protein_coding	YES	CCDS5280.1	ENSP00000314036	Q9NRZ5		UPI0000035BB6	NM_020133.2	deleterious(0)		2/9		hmmpanther:PTHR10983,hmmpanther:PTHR10983:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	161232188	161232188	G	C	1	0	0	0	0	1	0	0	0	471	942	33	4		4	AGPAT4	6	161232188	Missense_Mutation	SNP	G	C3L-00095_TP	183476	161232188	9573791	320	3701											
KIF25	0	.	GRCh38	chr6	168042085	168042085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctggttcctgggaaccccGcagggcatgcggagcaggtg	7	6	17	11	2	0	0	0	0	0	0	1	2	1	2	3	5	4	5	3	5	1	1	rs2073634		C3L-00095_TP	C3L-00095_NB	G	G																c.763G>T	p.Ala255Ser	p.A255S	ENST00000443060	8/10	231	219	12	301	299	2	strelka-varscan-mutect	KIF25,missense_variant,p.Ala255Ser,ENST00000443060,;KIF25,missense_variant,p.Ala255Ser,ENST00000354419,NM_030615.2;KIF25,missense_variant,p.Ala255Ser,ENST00000351261,NM_005355.3;	T	ENST00000443060	Transcript	missense_variant	1154/1613	763/1155	255/384	A/S	Gca/Tca	rs2073634	1		1	KIF25	HGNC	HGNC:6390	protein_coding	YES	CCDS5305.1	ENSP00000388878	Q9UIL4		UPI000012DDAB		tolerated(0.49)		8/10		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF421,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		rs2073634	.												T	3	4	10	168042085	168042085	G	T	1	0	0	0	0	1	0	0	0	8158	1087	38	1		1	KIF25	6	168042085	Missense_Mutation	SNP	G	C3L-00095_TP	6809897	168042085	2763894	321	3702											
SMOC2	0	.	GRCh38	chr6	168653165	168653165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaatccatctccgtacaaGaactgatgggctgcctgggc	11	8	10	12	1	1	2	0	1	1	1	3	2	2	2	3	2	3	2	3	2	4	1			C3L-00095_TP	C3L-00095_NB	G	G																c.1255G>A	p.Glu419Lys	p.E419K	ENST00000354536	11/13	220	198	22	291	291	0	strelka-varscan-mutect	SMOC2,missense_variant,p.Glu419Lys,ENST00000354536,NM_022138.2;SMOC2,missense_variant,p.Glu408Lys,ENST00000356284,NM_001166412.1;SMOC2,missense_variant,p.Glu28Lys,ENST00000417208,;SMOC2,5_prime_UTR_variant,,ENST00000535039,;SMOC2,upstream_gene_variant,,ENST00000477998,;SMOC2,missense_variant,p.Glu41Lys,ENST00000392100,;	A	ENST00000354536	Transcript	missense_variant	1475/3150	1255/1374	419/457	E/K	Gaa/Aaa	COSM1266298,COSM3622950	1		1	SMOC2	HGNC	HGNC:20323	protein_coding	YES	CCDS5307.1	ENSP00000346537	Q9H3U7		UPI0000072A56	NM_022138.2	deleterious(0)		11/13		PROSITE_profiles:PS50222,hmmpanther:PTHR12352,hmmpanther:PTHR12352:SF14,PROSITE_patterns:PS00018,Pfam_domain:PF10591,Gene3D:1.10.238.10,Superfamily_domains:SSF47473											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1041903275	.												A	3	1	10	168653165	168653165	G	A	1	0	0	0	0	1	0	0	0	15123	943	33	3		3	SMOC2	6	168653165	Missense_Mutation	SNP	G	C3L-00095_TP	611080	168653165	2152814	322	3703											
SDK1	0	.	GRCh38	chr7	4010999	4010999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgcatctgtcaaacgttgGccctgagatgacaggcgtca	9	9	13	10	2	3	2	2	2	1	1	3	3	3	2	1	3	2	2	1	3	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2165G>T	p.Gly722Val	p.G722V	ENST00000404826	15/45	229	216	13	212	212	0	strelka-varscan-mutect	SDK1,missense_variant,p.Gly722Val,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Gly722Val,ENST00000615806,;SDK1,missense_variant,p.Gly722Val,ENST00000389531,;	T	ENST00000404826	Transcript	missense_variant	2304/10397	2165/6642	722/2213	G/V	gGc/gTc		1		1	SDK1	HGNC	HGNC:19307	protein_coding	YES	CCDS34590.1	ENSP00000385899	Q7Z5N4		UPI0000DBEEC4	NM_152744.3	deleterious(0)		15/45		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF36,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	4010999	4010999	G	T	1	0	0	0	0	1	0	0	0	14243	1203	42	2		2	SDK1	7	4010999	Missense_Mutation	SNP	G	C3L-00095_TP		4010999	155334974	323	3704											
FBXL18	0	.	GRCh38	chr7	5501708	5501708	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctggtgcagcagggcacCacgccgtaggagggagtgaa	10	4	18	9	2	0	1	0	1	0	0	0	3	0	3	2	5	2	5	2	5	2	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.561G>T	p.=	p.V187V	ENST00000382368	3/5	82	74	8	69	68	1	strelka-varscan-mutect	FBXL18,synonymous_variant,p.=,ENST00000382368,NM_024963.4;FBXL18,synonymous_variant,p.=,ENST00000458142,;FBXL18,synonymous_variant,p.=,ENST00000453700,;FBXL18,upstream_gene_variant,,ENST00000620087,;FBXL18,synonymous_variant,p.=,ENST00000415009,;	A	ENST00000382368	Transcript	synonymous_variant	685/3498	561/2157	187/718	V	gtG/gtT		1		-1	FBXL18	HGNC	HGNC:21874	protein_coding	YES	CCDS43546.1	ENSP00000371805	Q96ME1	A0A024R857	UPI000020EA59	NM_024963.4			3/5		Superfamily_domains:SSF52047																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	10	5501708	5501708	C	A	1	0	0	0	0	0	0	0	1	5578	581	21	2		2	FBXL18	7	5501708	Silent	SNP	C	C3L-00095_TP	1490709	5501708	153844265	324	3705											
GRID2IP	0	.	GRCh38	chr7	6498064	6498064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctccagcgaggctcacCtcgaatttgctcatgaactc	9	9	10	13	2	2	1	2	1	0	0	5	3	3	1	2	2	3	3	2	2	2	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.3564G>T	p.Glu1188Asp	p.E1188D	ENST00000457091	21/22	51	44	7	49	49	0	strelka-varscan-mutect	GRID2IP,missense_variant,p.Glu1188Asp,ENST00000457091,NM_001145118.1;GRID2IP,missense_variant,p.Glu997Asp,ENST00000452113,;GRID2IP,missense_variant,p.Glu1004Asp,ENST00000435185,;	A	ENST00000457091	Transcript	missense_variant,splice_region_variant	3564/3636	3564/3636	1188/1211	E/D	gaG/gaT		1		-1	GRID2IP	HGNC	HGNC:18464	protein_coding	YES	CCDS47537.1	ENSP00000397351	A4D2P6		UPI0001722D0B	NM_001145118.1	deleterious(0.04)		21/22		PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF242,SMART_domains:SM00498,Superfamily_domains:SSF101447																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	6498064	6498064	C	A	1	0	0	0	0	1	0	0	0	6653	695	24	2		2	GRID2IP	7	6498064	Missense_Mutation	SNP	C	C3L-00095_TP	996356	6498064	152847909	325	3706											
MEOX2	0	.	GRCh38	chr7	15686341	15686341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagagaggattgggagaacGggtgcaagccttgcgccgtg	9	6	18	8	4	0	2	0	0	0	2	0	6	0	3	2	3	4	1	2	3	2	2	rs377671894		C3L-00095_TP	C3L-00095_NB	G	G																c.62C>A	p.Pro21Gln	p.P21Q	ENST00000262041	1/3	173	114	59	155	154	1	strelka-varscan	MEOX2,missense_variant,p.Pro21Gln,ENST00000262041,NM_005924.4;MEOX2-AS1,upstream_gene_variant,,ENST00000442176,;AC005550.5,downstream_gene_variant,,ENST00000438923,;AC005550.3,downstream_gene_variant,,ENST00000451240,;	T	ENST00000262041	Transcript	missense_variant	472/2500	62/915	21/304	P/Q	cCg/cAg	rs377671894	1		-1	MEOX2	HGNC	HGNC:7014	protein_coding	YES	CCDS34605.1	ENSP00000262041	P50222		UPI000013D247	NM_005924.4	tolerated(0.11)		1/3		hmmpanther:PTHR24328,hmmpanther:PTHR24328:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	15686341	15686341	G	T	1	0	0	0	0	1	0	0	0	9419	1116	39	1		1	MEOX2	7	15686341	Missense_Mutation	SNP	G	C3L-00095_TP	9188277	15686341	143659632	326	3707											
HDAC9	0	.	GRCh38	chr7	18585369	18585369	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgatgatgcccgtggtGgaccctgttgtccgtgagaa	8	10	15	8	2	0	3	0	3	0	1	1	6	1	5	3	3	1	1	3	3	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.111G>T	p.=	p.V37V	ENST00000441542	2/25	347	324	23	401	401	0	strelka-varscan	HDAC9,synonymous_variant,p.=,ENST00000406451,NM_001321897.1,NM_178423.1;HDAC9,synonymous_variant,p.=,ENST00000622668,NM_001321879.1,NM_001321885.1,NM_001321893.1,NM_001321891.1,NM_001321894.1,NM_001204146.1;HDAC9,synonymous_variant,p.=,ENST00000405010,NM_001321869.1,NM_001321870.1,NM_001321874.1,NM_001321875.1,NM_001321884.1,NM_001321886.1,NM_001321887.1,NM_001321890.1,NM_001321899.1,NM_001321900.1,NM_001321901.1,NM_001321902.1,NM_014707.1;HDAC9,synonymous_variant,p.=,ENST00000406072,NM_001321871.1,NM_001321872.1,NM_001321873.1,NM_001321888.1,NM_001321895.1,NM_001321898.1;HDAC9,synonymous_variant,p.=,ENST00000401921,;HDAC9,synonymous_variant,p.=,ENST00000441542,NM_178425.2;HDAC9,synonymous_variant,p.=,ENST00000432645,NM_058176.2;HDAC9,synonymous_variant,p.=,ENST00000417496,NM_001204144.1;HDAC9,synonymous_variant,p.=,ENST00000428307,NM_001204145.1;HDAC9,synonymous_variant,p.=,ENST00000456174,NM_001204148.1;HDAC9,synonymous_variant,p.=,ENST00000524023,NM_001204147.1;HDAC9,synonymous_variant,p.=,ENST00000413380,;HDAC9,synonymous_variant,p.=,ENST00000441986,;HDAC9,synonymous_variant,p.=,ENST00000413509,;HDAC9,synonymous_variant,p.=,ENST00000430454,;HDAC9,downstream_gene_variant,,ENST00000433709,;HDAC9,non_coding_transcript_exon_variant,,ENST00000476135,;HDAC9,stop_gained,p.Gly34Ter,ENST00000446646,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;	T	ENST00000441542	Transcript	synonymous_variant	111/3210	111/3210	37/1069	V	gtG/gtT		1		1	HDAC9	HGNC	HGNC:14065	protein_coding	YES	CCDS47553.1	ENSP00000408617	Q9UKV0		UPI000019AB75	NM_178425.2			2/25		Low_complexity_(Seg):seg,Pfam_domain:PF12203,PIRSF_domain:PIRSF037911																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	18585369	18585369	G	T	1	0	0	0	0	0	0	0	1	6901	1335	47	2		2	HDAC9	7	18585369	Silent	SNP	G	C3L-00095_TP	2899028	18585369	140760604	327	3708											
HDAC9	0	.	GRCh38	chr7	18629424	18629424	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagcagccccttactcAggcggaaggatggaaatgtt	12	7	14	8	1	1	1	1	0	0	1	1	5	1	4	2	5	3	2	2	5	4	2	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.739A>T	p.Arg247Trp	p.R247W	ENST00000441542	6/25	245	230	15	298	298	0	strelka-varscan	HDAC9,missense_variant,p.Arg244Trp,ENST00000406451,NM_001321897.1,NM_178423.1;HDAC9,missense_variant,p.Arg244Trp,ENST00000405010,NM_001321869.1,NM_001321870.1,NM_001321874.1,NM_001321875.1,NM_001321884.1,NM_001321886.1,NM_001321887.1,NM_001321890.1,NM_001321899.1,NM_001321900.1,NM_001321901.1,NM_001321902.1,NM_014707.1;HDAC9,missense_variant,p.Arg247Trp,ENST00000441542,NM_178425.2;HDAC9,missense_variant,p.Arg244Trp,ENST00000432645,NM_058176.2;HDAC9,missense_variant,p.Arg216Trp,ENST00000456174,NM_001204148.1;HDAC9,intron_variant,,ENST00000622668,NM_001321879.1,NM_001321885.1,NM_001321893.1,NM_001321891.1,NM_001321894.1,NM_001204146.1;HDAC9,intron_variant,,ENST00000406072,NM_001321871.1,NM_001321872.1,NM_001321873.1,NM_001321888.1,NM_001321895.1,NM_001321898.1;HDAC9,intron_variant,,ENST00000401921,;HDAC9,intron_variant,,ENST00000417496,NM_001204144.1;HDAC9,intron_variant,,ENST00000428307,NM_001204145.1;HDAC9,intron_variant,,ENST00000524023,NM_001204147.1;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,intron_variant,,ENST00000461159,;	T	ENST00000441542	Transcript	missense_variant	739/3210	739/3210	247/1069	R/W	Agg/Tgg		1		1	HDAC9	HGNC	HGNC:14065	protein_coding	YES	CCDS47553.1	ENSP00000408617	Q9UKV0		UPI000019AB75	NM_178425.2	deleterious(0)		6/25		PIRSF_domain:PIRSF037911																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	18629424	18629424	A	T	1	0	0	0	0	1	0	0	0	6901	179	7	4		4	HDAC9	7	18629424	Missense_Mutation	SNP	A	C3L-00095_TP	44055	18629424	140716549	328	3709											
CREB5	0	.	GRCh38	chr7	28804350	28804350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcagcaccagacactgcCaccccatcacccttacccac	11	5	4	21	0	2	1	2	0	0	1	2	1	2	1	6	0	3	2	6	0	1	1	rs746199510		C3L-00095_TP	C3L-00095_NB	C	C																c.854C>A	p.Pro285Gln	p.P285Q	ENST00000357727	8/11	542	498	44	663	662	1	strelka-varscan	CREB5,missense_variant,p.Pro285Gln,ENST00000357727,NM_182898.3;CREB5,missense_variant,p.Pro278Gln,ENST00000396300,NM_004904.3;CREB5,missense_variant,p.Pro252Gln,ENST00000396299,NM_182899.4;CREB5,missense_variant,p.Pro146Gln,ENST00000396298,NM_001011666.2;CREB5,missense_variant,p.Pro252Gln,ENST00000409603,;CREB5,missense_variant,p.Pro111Gln,ENST00000426500,;	A	ENST00000357727	Transcript	missense_variant	1244/8532	854/1527	285/508	P/Q	cCa/cAa	rs746199510	1		1	CREB5	HGNC	HGNC:16844	protein_coding	YES	CCDS5417.1	ENSP00000350359	Q02930		UPI0000457534	NM_182898.3	tolerated(0.29)		8/11		PIRSF_domain:PIRSF003153,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	28804350	28804350	C	A	1	0	0	0	0	1	0	0	0	3660	594	21	2		2	CREB5	7	28804350	Missense_Mutation	SNP	C	C3L-00095_TP	10174926	28804350	130541623	329	3710											
WIPF3	0	.	GRCh38	chr7	29884085	29884085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctcttcctcccccatcaaAactccgcttgtgtccccacc	6	10	3	22	1	2	0	1	0	1	0	6	0	6	0	8	0	1	1	8	0	2	2	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.591A>T	p.Lys197Asn	p.K197N	ENST00000242140	5/9	59	54	5	108	108	0	strelka-varscan	WIPF3,missense_variant,p.Lys197Asn,ENST00000242140,NM_001080529.2;WIPF3,missense_variant,p.Lys197Asn,ENST00000409290,;WIPF3,missense_variant,p.Lys197Asn,ENST00000409123,;	T	ENST00000242140	Transcript	missense_variant	773/4184	591/1452	197/483	K/N	aaA/aaT		1		1	WIPF3	HGNC	HGNC:22004	protein_coding	YES	CCDS56472.1	ENSP00000242140	A6NGB9		UPI00006C0B79	NM_001080529.2	tolerated_low_confidence(0.09)		5/9		Low_complexity_(Seg):seg,hmmpanther:PTHR23202:SF31,hmmpanther:PTHR23202																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	29884085	29884085	A	T	1	0	0	0	0	1	0	0	0	17925	11	1	4		4	WIPF3	7	29884085	Missense_Mutation	SNP	A	C3L-00095_TP	1079735	29884085	129461888	330	3711											
CRHR2	0	.	GRCh38	chr7	30655072	30655072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagtagaagacagacacGaagaaaccctggaaaggagg	19	2	13	7	1	0	4	0	0	0	4	0	7	0	6	1	3	2	2	1	3	6	1	rs552742156		C3L-00095_TP	C3L-00095_NB	G	G																c.1143C>A	p.Phe381Leu	p.F381L	ENST00000348438	12/13	112	105	7	201	200	1	strelka-varscan	CRHR2,missense_variant,p.Phe340Leu,ENST00000341843,NM_001202481.1;CRHR2,missense_variant,p.Phe354Leu,ENST00000506074,NM_001202483.1;CRHR2,missense_variant,p.Phe354Leu,ENST00000471646,NM_001883.4,NM_001202482.1;CRHR2,missense_variant,p.Phe381Leu,ENST00000348438,NM_001202475.1;CRHR2,3_prime_UTR_variant,,ENST00000452278,;	T	ENST00000348438	Transcript	missense_variant	1213/1600	1143/1317	381/438	F/L	ttC/ttA	rs552742156,COSM1450345,COSM167089,COSM4949205	1		-1	CRHR2	HGNC	HGNC:2358	protein_coding	YES	CCDS56478.1	ENSP00000340943	Q13324		UPI000002A720	NM_001202475.1	tolerated(0.1)		12/13		Pfam_domain:PF00002,Prints_domain:PR00249,PROSITE_patterns:PS00650,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF274,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		.	.												T	3	4	10	30655072	30655072	G	T	1	0	0	0	0	1	0	0	0	3673	1049	37	1		1	CRHR2	7	30655072	Missense_Mutation	SNP	G	C3L-00095_TP	770987	30655072	128690901	331	3712											
INHBA	0	.	GRCh38	chr7	41700207	41700207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgtgcttcttgacggcCtccaccatctctggctgaga	9	11	9	12	1	2	2	0	2	2	1	4	3	3	2	3	2	1	2	3	2	2	2	rs755524019		C3L-00095_TP	C3L-00095_NB	C	C																c.168G>T	p.Glu56Asp	p.E56D	ENST00000242208	2/3	102	90	12	122	122	0	strelka-varscan	INHBA,missense_variant,p.Glu56Asp,ENST00000242208,NM_002192.2;INHBA,missense_variant,p.Glu56Asp,ENST00000638023,;INHBA,missense_variant,p.Glu56Asp,ENST00000442711,;INHBA-AS1,intron_variant,,ENST00000415848,;INHBA-AS1,intron_variant,,ENST00000422822,;INHBA-AS1,intron_variant,,ENST00000420821,;INHBA,intron_variant,,ENST00000416150,;	A	ENST00000242208	Transcript	missense_variant	415/6064	168/1281	56/426	E/D	gaG/gaT	rs755524019	1		-1	INHBA	HGNC	HGNC:6066	protein_coding	YES	CCDS5464.1	ENSP00000242208	P08476	A4D1W7	UPI000012D421	NM_002192.2	deleterious(0.02)		2/3		hmmpanther:PTHR11848:SF133,hmmpanther:PTHR11848,Pfam_domain:PF00688																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	41700207	41700207	C	A	1	0	0	0	0	1	0	0	0	7643	680	24	2		2	INHBA	7	41700207	Missense_Mutation	SNP	C	C3L-00095_TP	11045135	41700207	117645766	332	3713											
HECW1	0	.	GRCh38	chr7	43320743	43320743	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcgtactttgtggaacGtgagtacctttaccattctt	8	15	8	10	2	1	1	0	1	1	0	2	2	1	2	2	1	5	3	2	1	4	7			C3L-00095_TP	C3L-00095_NB	G	G																c.460+1G>T		p.X154_splice	ENST00000395891		194	177	17	205	205	0	strelka-varscan	HECW1,splice_donor_variant,,ENST00000395891,NM_015052.4;HECW1,splice_donor_variant,,ENST00000453890,NM_001287059.1;HECW1,splice_donor_variant,,ENST00000492310,;	T	ENST00000395891	Transcript	splice_donor_variant	-/9501	460/4821	154/1606			COSM1450773,COSM1450774	1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4				5/29												1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												T	5	4	10	43320743	43320743	G	T	1	0	0	0	0	0	0	1	0	6924	1159	40	1		1	HECW1	7	43320743	Splice_Site	SNP	G	C3L-00095_TP	1620536	43320743	116025230	333	3714											
HECW1	0	.	GRCh38	chr7	43445561	43445561	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggcaggtccaagcaatCggagagaaggttagacctca	12	6	13	10	2	1	2	1	0	0	2	3	4	2	3	3	4	1	3	3	4	4	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2389C>A	p.=	p.R797R	ENST00000395891	11/30	46	40	6	67	67	0	strelka-varscan	HECW1,synonymous_variant,p.=,ENST00000395891,NM_015052.4;HECW1,synonymous_variant,p.=,ENST00000453890,NM_001287059.1;HECW1,downstream_gene_variant,,ENST00000471043,;	A	ENST00000395891	Transcript	synonymous_variant	2994/9501	2389/4821	797/1606	R	Cgg/Agg		1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4			11/30		hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	43445561	43445561	C	A	1	0	0	0	0	0	0	0	1	6924	875	31	1		1	HECW1	7	43445561	Silent	SNP	C	C3L-00095_TP	124818	43445561	115900412	334	3715											
AEBP1	0	.	GRCh38	chr7	44110962	44110962	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgtgctgagtgagctccCagagccggtggtggctcgtt	5	9	15	12	3	0	3	0	2	0	1	2	3	1	3	3	3	3	4	3	3	0	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1535C>A	p.Pro512Gln	p.P512Q	ENST00000223357	13/21	206	190	16	256	255	1	strelka-varscan	AEBP1,missense_variant,p.Pro512Gln,ENST00000223357,NM_001129.4;AEBP1,missense_variant,p.Pro55Gln,ENST00000450684,;POLD2,downstream_gene_variant,,ENST00000406581,NM_001256879.1;POLD2,downstream_gene_variant,,ENST00000452185,NM_001127218.2;POLD2,downstream_gene_variant,,ENST00000610533,NM_006230.3;POLD2,downstream_gene_variant,,ENST00000223361,;AEBP1,downstream_gene_variant,,ENST00000455443,;AEBP1,downstream_gene_variant,,ENST00000449162,;POLD2,downstream_gene_variant,,ENST00000436400,;AEBP1,downstream_gene_variant,,ENST00000582839,;AEBP1,downstream_gene_variant,,ENST00000454218,;AEBP1,3_prime_UTR_variant,,ENST00000434445,;AEBP1,upstream_gene_variant,,ENST00000413907,;AEBP1,upstream_gene_variant,,ENST00000431035,;AEBP1,downstream_gene_variant,,ENST00000453052,;POLD2,downstream_gene_variant,,ENST00000489883,;	A	ENST00000223357	Transcript	missense_variant	1840/4081	1535/3477	512/1158	P/Q	cCa/cAa		1		1	AEBP1	HGNC	HGNC:303	protein_coding	YES	CCDS5476.1	ENSP00000223357	Q8IUX7		UPI00000746E2	NM_001129.4	deleterious(0)		13/21		Gene3D:2.60.120.260,Pfam_domain:PF00754,PROSITE_profiles:PS50022,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF48,SMART_domains:SM00231,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	44110962	44110962	C	A	1	0	0	0	0	1	0	0	0	424	594	21	2		2	AEBP1	7	44110962	Missense_Mutation	SNP	C	C3L-00095_TP	665401	44110962	115235011	335	3716											
NPC1L1	0	.	GRCh38	chr7	44517231	44517231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggaagacctcaaaagccGggtctgttccaggcactttc	10	8	12	11	1	2	1	1	0	1	1	4	2	3	2	3	4	1	2	3	4	3	2	rs374386282		C3L-00095_TP	C3L-00095_NB	G	G																c.3344C>A	p.Pro1115Gln	p.P1115Q	ENST00000289547	16/20	433	408	25	528	527	1	strelka-varscan	NPC1L1,missense_variant,p.Pro1115Gln,ENST00000289547,NM_013389.2;NPC1L1,missense_variant,p.Pro1042Gln,ENST00000546276,;NPC1L1,missense_variant,p.Pro1088Gln,ENST00000381160,NM_001101648.1;	T	ENST00000289547	Transcript	missense_variant	3400/5048	3344/4080	1115/1359	P/Q	cCg/cAg	rs374386282,COSM5244032	1		-1	NPC1L1	HGNC	HGNC:7898	protein_coding	YES	CCDS5491.1	ENSP00000289547	Q9UHC9		UPI000013DF88	NM_013389.2	deleterious(0.02)		16/20		hmmpanther:PTHR10796:SF89,hmmpanther:PTHR10796,Pfam_domain:PF02460,Gene3D:2j8sB01,Superfamily_domains:SSF82866											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	10	44517231	44517231	G	T	1	0	0	0	0	1	0	0	0	10619	1116	39	1		1	NPC1L1	7	44517231	Missense_Mutation	SNP	G	C3L-00095_TP	406269	44517231	114828742	336	3717											
RAMP3	0	.	GRCh38	chr7	45183258	45183258	+	Missense_Mutation	SNP	G	G	T																															cttcatcaccggcatccacaGgcagttcttctccaactgca																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.293G>T	p.Arg98Met	p.R98M	ENST00000242249	3/3	473	439	34	574	574	0	strelka-varscan	RAMP3,missense_variant,p.Arg98Met,ENST00000242249,NM_005856.2;RAMP3,missense_variant,p.Arg98Met,ENST00000481345,;RAMP3,missense_variant,p.Arg98Met,ENST00000496212,;	T	ENST00000242249	Transcript	missense_variant	331/1323	293/447	98/148	R/M	aGg/aTg		1		1	RAMP3	HGNC	HGNC:9845	protein_coding	YES	CCDS5503.1	ENSP00000242249	O60896	A4D2L1	UPI0000134303	NM_005856.2	deleterious(0)		3/3		Pfam_domain:PF04901,hmmpanther:PTHR14076,hmmpanther:PTHR14076:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	45183258	45183258	G	T	1	0	0	0	0	1	0	0	0	13182	1000	35	2		2	RAMP3	7	45183258	Missense_Mutation	SNP	G	C3L-00095_TP	666027	45183258	114162715	337	3718	81	2									
RAMP3	0	.	GRCh38	chr7	45183259	45183259	+	Missense_Mutation	SNP	G	G	T																															ttcatcaccggcatccacagGcagttcttctccaactgcac																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.294G>T	p.Arg98Ser	p.R98S	ENST00000242249	3/3	478	442	36	570	566	4	strelka-varscan	RAMP3,missense_variant,p.Arg98Ser,ENST00000242249,NM_005856.2;RAMP3,missense_variant,p.Arg98Ser,ENST00000481345,;RAMP3,missense_variant,p.Arg98Ser,ENST00000496212,;	T	ENST00000242249	Transcript	missense_variant	332/1323	294/447	98/148	R/S	agG/agT		1		1	RAMP3	HGNC	HGNC:9845	protein_coding	YES	CCDS5503.1	ENSP00000242249	O60896	A4D2L1	UPI0000134303	NM_005856.2	deleterious(0)		3/3		Pfam_domain:PF04901,hmmpanther:PTHR14076,hmmpanther:PTHR14076:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	45183259	45183259	G	T	1	0	0	0	0	1	0	0	0	13182	1194	42	2		2	RAMP3	7	45183259	Missense_Mutation	SNP	G	C3L-00095_TP	1	45183259	114162714	338	3719	81	2									
ABCA13	0	.	GRCh38	chr7	48273861	48273861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatgcattgtatggttaGatgtcataaaccatttgtat	13	15	9	4	0	1	1	1	0	0	1	1	2	1	2	1	2	2	4	1	2	6	6	rs756550750		C3L-00095_TP	C3L-00095_NB	G	G																c.4195G>T	p.Asp1399Tyr	p.D1399Y	ENST00000435803	17/62	333	306	27	213	212	1	strelka-varscan	ABCA13,missense_variant,p.Asp1399Tyr,ENST00000435803,NM_152701.4;ABCA13,downstream_gene_variant,,ENST00000417403,;	T	ENST00000435803	Transcript	missense_variant	4219/17184	4195/15177	1399/5058	D/Y	Gat/Tat	rs756550750	1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4	tolerated(0.08)		17/62																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	48273861	48273861	G	T	1	0	0	0	0	1	0	0	0	35	942	33	2		2	ABCA13	7	48273861	Missense_Mutation	SNP	G	C3L-00095_TP	3090602	48273861	111072112	339	3720											
ABCA13	0	.	GRCh38	chr7	48274556	48274556	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgaaagctacaggtctTggtattcaactgataaggga	15	11	10	5	0	2	2	1	2	1	0	2	3	2	3	0	3	3	2	0	3	6	6	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.4890T>A	p.=	p.L1630L	ENST00000435803	17/62	361	329	32	359	358	1	strelka-varscan	ABCA13,synonymous_variant,p.=,ENST00000435803,NM_152701.4;ABCA13,upstream_gene_variant,,ENST00000544596,;ABCA13,upstream_gene_variant,,ENST00000611776,;ABCA13,downstream_gene_variant,,ENST00000417403,;	A	ENST00000435803	Transcript	synonymous_variant	4914/17184	4890/15177	1630/5058	L	ctT/ctA		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4			17/62																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	48274556	48274556	T	A	1	0	0	0	0	0	0	0	1	35	1799	63	4		4	ABCA13	7	48274556	Silent	SNP	T	C3L-00095_TP	695	48274556	111071417	340	3721											
DDC	0	.	GRCh38	chr7	50543886	50543886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accttggatacacacttaccCcaggcatgattatcttctca	11	12	5	13	0	2	1	1	1	2	0	3	2	2	2	3	2	2	1	3	2	3	5	rs147802058		C3L-00095_TP	C3L-00095_NB	C	C																c.200G>T	p.Gly67Val	p.G67V	ENST00000444124	2/15	492	452	40	595	595	0	strelka-varscan	DDC,missense_variant,p.Gly67Val,ENST00000444124,NM_001082971.1;DDC,missense_variant,p.Gly67Val,ENST00000357936,NM_000790.3;DDC,missense_variant,p.Gly67Val,ENST00000622873,NM_001242886.1;DDC,missense_variant,p.Gly67Val,ENST00000617822,NM_001242887.1;DDC,missense_variant,p.Gly67Val,ENST00000426377,NM_001242888.1;DDC,missense_variant,p.Gly67Val,ENST00000615193,NM_001242889.1;DDC,missense_variant,p.Gly67Val,ENST00000431062,;DDC,missense_variant,p.Gly33Val,ENST00000430300,;DDC,missense_variant,p.Gly67Val,ENST00000380984,NM_001242890.1;FIGNL1,upstream_gene_variant,,ENST00000613602,;DDC,downstream_gene_variant,,ENST00000420203,;DDC-AS1,downstream_gene_variant,,ENST00000454521,;DDC,upstream_gene_variant,,ENST00000489162,;DDC,missense_variant,p.Gly67Val,ENST00000444733,;	A	ENST00000444124	Transcript	missense_variant,splice_region_variant	401/2041	200/1443	67/480	G/V	gGg/gTg	rs147802058	1		-1	DDC	HGNC	HGNC:2719	protein_coding	YES	CCDS5511.1	ENSP00000403644	P20711	A0A0S2Z3N4	UPI000013F150	NM_001082971.1	deleterious(0)		2/15		Gene3D:3k40A01,Pfam_domain:PF00282,hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF70,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	50543886	50543886	C	A	1	0	0	0	0	1	0	0	0	4128	637	22	2		2	DDC	7	50543886	Missense_Mutation	SNP	C	C3L-00095_TP	2269330	50543886	108802087	341	3722											
POM121L12	0	.	GRCh38	chr7	53036252	53036252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaagcgctaggttcgacgGgccgttgtggttcgaggtct	5	10	18	8	5	1	0	0	0	1	0	3	3	1	1	1	5	1	4	1	5	2	4	rs200587634		C3L-00095_TP	C3L-00095_NB	G	G																c.581G>C	p.Gly194Ala	p.G194A	ENST00000408890	1/1	270	244	26	380	380	0	strelka-varscan	POM121L12,missense_variant,p.Gly194Ala,ENST00000408890,NM_182595.3;	C	ENST00000408890	Transcript	missense_variant	611/1283	581/891	194/296	G/A	gGg/gCg	rs200587634	1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3	tolerated(0.11)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	10	53036252	53036252	G	C	1	0	0	0	0	1	0	0	0	12352	1232	43	4		4	POM121L12	7	53036252	Missense_Mutation	SNP	G	C3L-00095_TP	2492366	53036252	106309721	342	3723											
VSTM2A	0	.	GRCh38	chr7	54544765	54544765	+	Missense_Mutation	SNP	G	G	T																															ggccggaggacctggatcccGgggccgagggggccggcgcg																								rs377152916		C3L-00095_TP	C3L-00095_NB	G	G																c.223G>T	p.Gly75Trp	p.G75W	ENST00000402613	2/5	149	138	11	187	187	0	strelka-varscan	VSTM2A,missense_variant,p.Gly75Trp,ENST00000302287,NM_001317843.1;VSTM2A,missense_variant,p.Gly75Trp,ENST00000407838,NM_182546.3;VSTM2A,missense_variant,p.Gly75Trp,ENST00000404951,;VSTM2A,missense_variant,p.Gly75Trp,ENST00000402613,NM_001301009.1;VSTM2A,upstream_gene_variant,,ENST00000498834,;VSTM2A,upstream_gene_variant,,ENST00000466888,;VSTM2A,upstream_gene_variant,,ENST00000469952,;VSTM2A,non_coding_transcript_exon_variant,,ENST00000495904,;	T	ENST00000402613	Transcript	missense_variant	349/1076	223/723	75/240	G/W	Ggg/Tgg	rs377152916	1		1	VSTM2A	HGNC	HGNC:28499	protein_coding	YES	CCDS75604.1	ENSP00000384103		F8W8J5	UPI00003E58E7	NM_001301009.1	tolerated(0.09)		2/5		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF23,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	10	54544765	54544765	G	T	1	0	0	0	0	1	0	0	0	17780	1116	39	1		1	VSTM2A	7	54544765	Missense_Mutation	SNP	G	C3L-00095_TP	1508513	54544765	104801208	343	3724	82	2									
VSTM2A	0	.	GRCh38	chr7	54544766	54544766	+	Missense_Mutation	SNP	G	G	T																															gccggaggacctggatcccgGggccgagggggccggcgcgc																										C3L-00095_TP	C3L-00095_NB	G	G																c.224G>T	p.Gly75Val	p.G75V	ENST00000402613	2/5	148	137	11	182	182	0	strelka-varscan	VSTM2A,missense_variant,p.Gly75Val,ENST00000302287,NM_001317843.1;VSTM2A,missense_variant,p.Gly75Val,ENST00000407838,NM_182546.3;VSTM2A,missense_variant,p.Gly75Val,ENST00000404951,;VSTM2A,missense_variant,p.Gly75Val,ENST00000402613,NM_001301009.1;VSTM2A,upstream_gene_variant,,ENST00000498834,;VSTM2A,upstream_gene_variant,,ENST00000466888,;VSTM2A,upstream_gene_variant,,ENST00000469952,;VSTM2A,non_coding_transcript_exon_variant,,ENST00000495904,;	T	ENST00000402613	Transcript	missense_variant	350/1076	224/723	75/240	G/V	gGg/gTg	COSM332137,COSM332138	1		1	VSTM2A	HGNC	HGNC:28499	protein_coding	YES	CCDS75604.1	ENSP00000384103		F8W8J5	UPI00003E58E7	NM_001301009.1	tolerated(0.05)		2/5		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF23,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												T	3	4	10	54544766	54544766	G	T	1	0	0	0	0	1	0	0	0	17780	1232	43	2		2	VSTM2A	7	54544766	Missense_Mutation	SNP	G	C3L-00095_TP	1	54544766	104801207	344	3725	82	2									
LANCL2	0	.	GRCh38	chr7	55428374	55428374	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaatccctttcttttcaGtttgcagagtggtgtctaga	10	15	9	7	0	3	3	1	0	2	3	4	3	4	3	1	1	1	2	1	1	3	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1186-1G>A		p.X396_splice	ENST00000254770		199	186	13	199	199	0	strelka-varscan	LANCL2,splice_acceptor_variant,,ENST00000254770,NM_018697.3;LANCL2,splice_acceptor_variant,,ENST00000476479,;LANCL2,splice_acceptor_variant,,ENST00000452107,;LANCL2,non_coding_transcript_exon_variant,,ENST00000466041,;	A	ENST00000254770	Transcript	splice_acceptor_variant	-/4353	1186/1353	396/450				1		1	LANCL2	HGNC	HGNC:6509	protein_coding	YES	CCDS5517.1	ENSP00000254770	Q9NS86		UPI000006F7D0	NM_018697.3				7/8																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	10	55428374	55428374	G	A	1	0	0	0	0	0	0	1	0	8531	1043	36	3		3	LANCL2	7	55428374	Splice_Site	SNP	G	C3L-00095_TP	883608	55428374	103917599	345	3726											
SEPT14	0	.	GRCh38	chr7	55846592	55846592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgggcaaacattcaaaacCaaaatgtccaatcgtagtta	17	10	6	8	1	1	0	1	0	0	0	3	0	2	0	2	1	2	3	2	1	8	4	rs750565046		C3L-00095_TP	C3L-00095_NB	C	C																c.100G>T	p.Gly34Cys	p.G34C	ENST00000388975	3/10	136	124	12	111	111	0	strelka-varscan	SEPT14,missense_variant,p.Gly34Cys,ENST00000388975,NM_207366.2;SEPT14,non_coding_transcript_exon_variant,,ENST00000477628,;	A	ENST00000388975	Transcript	missense_variant	217/3785	100/1299	34/432	G/C	Ggt/Tgt	rs750565046	1		-1	SEPT14	HGNC	HGNC:33280	protein_coding	YES	CCDS5519.2	ENSP00000373627	Q6ZU15		UPI0000E0AB69	NM_207366.2	deleterious(0)		3/10		hmmpanther:PTHR18884:SF51,hmmpanther:PTHR18884,PIRSF_domain:PIRSF006698,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	10	55846592	55846592	C	A	1	0	0	0	0	1	0	0	0	14339	594	21	2		2	SEPT14	7	55846592	Missense_Mutation	SNP	C	C3L-00095_TP	418218	55846592	103499381	346	3727											
ZNF713	0	.	GRCh38	chr7	55939601	55939601	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcagagaattcacacAggagaaaagccttttatatg	17	9	7	8	0	2	2	2	0	0	2	2	4	2	2	1	1	2	0	1	1	6	4	rs373984730		C3L-00095_TP	C3L-00095_NB	A	A																c.927A>T	p.=	p.T309T	ENST00000429591	7/7	132	121	11	103	103	0	strelka-varscan	ZNF713,synonymous_variant,p.=,ENST00000429591,NM_182633.2;ZNF713,synonymous_variant,p.=,ENST00000633730,;RP11-15K19.2,intron_variant,,ENST00000426595,;	T	ENST00000429591	Transcript	synonymous_variant	1715/4339	927/1332	309/443	T	acA/acT	rs373984730	1		1	ZNF713	HGNC	HGNC:22043	protein_coding	YES		ENSP00000416662		A0A0M3HEQ9	UPI0000140F17	NM_182633.2			7/7		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF80,Superfamily_domains:SSF57667																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	10	55939601	55939601	A	T	1	0	0	0	0	0	0	0	1	18692	175	7	4		4	ZNF713	7	55939601	Silent	SNP	A	C3L-00095_TP	93009	55939601	103406372	347	3728											
RSBN1L	0	.	GRCh38	chr7	77778606	77778606	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgccaggattcagctatAtgataatgacatttatttta	13	16	6	6	0	1	2	1	2	0	0	1	3	1	3	1	1	2	1	1	1	6	9	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.1979A>G	p.Tyr660Cys	p.Y660C	ENST00000334955	8/8	99	93	6	90	90	0	strelka-varscan-mutect	RSBN1L,missense_variant,p.Tyr660Cys,ENST00000334955,NM_198467.2;RSBN1L,missense_variant,p.Tyr390Cys,ENST00000445288,;RSBN1L,missense_variant,p.Tyr198Cys,ENST00000445512,;RSBN1L,intron_variant,,ENST00000441514,;	G	ENST00000334955	Transcript	missense_variant	2006/6422	1979/2541	660/846	Y/C	tAt/tGt		1		1	RSBN1L	HGNC	HGNC:24765	protein_coding	YES	CCDS43607.1	ENSP00000334040	Q6PCB5		UPI000020F469	NM_198467.2	tolerated(0.33)		8/8		hmmpanther:PTHR13354:SF9,hmmpanther:PTHR13354																	MODERATE	1	SNV	1			1										PASS		rs1322580432	.												G	3	3	10	77778606	77778606	A	G	1	0	0	0	0	1	0	0	0	13953	449	16	5		5	RSBN1L	7	77778606	Missense_Mutation	SNP	A	C3L-00095_TP	21839005	77778606	81567367	348	3729											
CD36	0	.	GRCh38	chr7	80661078	80661078	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagagttcgttttctagcCaaggaaaatgtaacccagga	13	12	9	7	1	1	1	0	0	1	1	2	3	1	3	2	2	2	3	2	2	6	7			C3L-00095_TP	C3L-00095_NB	C	C																c.297C>A	p.=	p.A99A	ENST00000435819	8/17	283	260	23	368	366	2	strelka-varscan-mutect	CD36,synonymous_variant,p.=,ENST00000435819,;CD36,synonymous_variant,p.=,ENST00000447544,NM_001001548.2;CD36,synonymous_variant,p.=,ENST00000309881,NM_001001547.2;CD36,synonymous_variant,p.=,ENST00000433696,NM_001289908.1;CD36,synonymous_variant,p.=,ENST00000394788,NM_000072.3;CD36,synonymous_variant,p.=,ENST00000538969,NM_001289909.1;CD36,synonymous_variant,p.=,ENST00000544133,;CD36,synonymous_variant,p.=,ENST00000432207,NM_001127443.1,NM_001127444.1;CD36,synonymous_variant,p.=,ENST00000534394,NM_001289911.1;CD36,synonymous_variant,p.=,ENST00000419819,;CD36,synonymous_variant,p.=,ENST00000413265,;CD36,synonymous_variant,p.=,ENST00000438020,;CD36,synonymous_variant,p.=,ENST00000426978,;CD36,downstream_gene_variant,,ENST00000482059,;CD36,downstream_gene_variant,,ENST00000428497,;CD36,downstream_gene_variant,,ENST00000436384,;CD36,downstream_gene_variant,,ENST00000441109,;CD36,intron_variant,,ENST00000441034,;CD36,upstream_gene_variant,,ENST00000464213,;AC073850.6,downstream_gene_variant,,ENST00000449243,;	A	ENST00000435819	Transcript	synonymous_variant	981/2365	297/1419	99/472	A	gcC/gcA	COSM1150750,COSM748023,COSM748024,COSM748025	1		1	CD36	HGNC	HGNC:1663	protein_coding	YES	CCDS34673.1	ENSP00000399421	P16671	A4D1B1	UPI0000000C91				8/17		hmmpanther:PTHR11923:SF12,hmmpanther:PTHR11923,Pfam_domain:PF01130,Prints_domain:PR01610											1,1,1,1						LOW	1	SNV	2		1,1,1,1	1										PASS		.	.												A	2	1	10	80661078	80661078	C	A	1	0	0	0	0	0	0	0	1	2711	581	21	2		2	CD36	7	80661078	Silent	SNP	C	C3L-00095_TP	2882472	80661078	78684895	349	3730											
SEMA3D	0	.	GRCh38	chr7	84999710	84999710	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctctgggtattttccatCtgttcattctcaatgacatt	7	17	6	11	0	4	1	2	1	3	0	6	1	5	1	2	1	0	2	2	1	2	6	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2064G>A	p.=	p.Q688Q	ENST00000284136	17/17	460	426	34	616	616	0	strelka-varscan-mutect	SEMA3D,synonymous_variant,p.=,ENST00000284136,NM_152754.2;SEMA3D,non_coding_transcript_exon_variant,,ENST00000484038,;	T	ENST00000284136	Transcript	synonymous_variant	2108/6265	2064/2334	688/777	Q	caG/caA		1		-1	SEMA3D	HGNC	HGNC:10726	protein_coding	YES	CCDS34676.1	ENSP00000284136	O95025		UPI0000135A66	NM_152754.2			17/17		hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF36																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	84999710	84999710	C	T	1	0	0	0	0	0	0	0	1	14303	912	32	3		3	SEMA3D	7	84999710	Silent	SNP	C	C3L-00095_TP	4338632	84999710	74346263	350	3731											
CALCR	0	.	GRCh38	chr7	93468802	93468802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatagtacagaacatatGcattctggaacaacaaaaag	20	7	6	8	0	1	1	0	0	1	1	1	2	1	2	1	1	5	2	1	1	9	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.488C>T	p.Ala163Val	p.A163V	ENST00000359558	8/16	148	133	15	147	147	0	strelka-varscan-mutect	CALCR,missense_variant,p.Ala163Val,ENST00000359558,NM_001164737.1;CALCR,missense_variant,p.Ala145Val,ENST00000421592,;CALCR,missense_variant,p.Ala145Val,ENST00000394441,NM_001164738.1;CALCR,missense_variant,p.Ala145Val,ENST00000426151,NM_001742.3;CALCR,missense_variant,p.Ala145Val,ENST00000360249,;CALCR,missense_variant,p.Ala145Val,ENST00000423724,;CALCR,missense_variant,p.Ala145Val,ENST00000415529,;	A	ENST00000359558	Transcript	missense_variant	788/3696	488/1527	163/508	A/V	gCa/gTa		1		-1	CALCR	HGNC	HGNC:1440	protein_coding	YES	CCDS55125.1	ENSP00000352561		A0A0A0MRG0	UPI0001B8380B	NM_001164737.1	tolerated(0.08)		8/16		hmmpanther:PTHR12011:SF84,hmmpanther:PTHR12011,Superfamily_domains:SSF111418,Prints_domain:PR01350,Prints_domain:PR00361																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	93468802	93468802	G	A	1	0	0	0	0	1	0	0	0	2269	1333	46	3		3	CALCR	7	93468802	Missense_Mutation	SNP	G	C3L-00095_TP	8469092	93468802	65877171	351	3732											
DYNC1I1	0	.	GRCh38	chr7	95810471	95810471	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagagacagaggctttgcTgcaaagcattggtatctcac	12	9	11	9	1	1	2	1	0	1	2	2	4	1	2	0	2	3	5	0	2	2	3	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.188T>A	p.Leu63Gln	p.L63Q	ENST00000324972	3/17	99	93	6	97	97	0	strelka-varscan-mutect	DYNC1I1,missense_variant,p.Leu63Gln,ENST00000324972,NM_004411.4;DYNC1I1,missense_variant,p.Leu63Gln,ENST00000447467,NM_001135556.1;DYNC1I1,missense_variant,p.Leu63Gln,ENST00000437599,NM_001278421.1;DYNC1I1,missense_variant,p.Leu63Gln,ENST00000359388,NM_001135557.1;DYNC1I1,missense_variant,p.Leu63Gln,ENST00000457059,;DYNC1I1,missense_variant,p.Leu63Gln,ENST00000630942,NM_001278422.1;DYNC1I1,missense_variant,p.Leu63Gln,ENST00000413338,;DYNC1I1,missense_variant,p.Leu63Gln,ENST00000524053,;DYNC1I1,missense_variant,p.Leu63Gln,ENST00000518089,;DYNC1I1,5_prime_UTR_variant,,ENST00000537881,;	A	ENST00000324972	Transcript	missense_variant	381/2950	188/1938	63/645	L/Q	cTg/cAg		1		1	DYNC1I1	HGNC	HGNC:2963	protein_coding	YES	CCDS5644.1	ENSP00000320130	O14576	A4D1I7	UPI0000129A01	NM_004411.4	deleterious(0)		3/17		hmmpanther:PTHR12442:SF34,hmmpanther:PTHR12442																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	95810471	95810471	T	A	1	0	0	0	0	1	0	0	0	4666	1580	55	4		4	DYNC1I1	7	95810471	Missense_Mutation	SNP	T	C3L-00095_TP	2341669	95810471	63535502	352	3733											
SLC25A13	0	.	GRCh38	chr7	96121931	96121932	+	Frame_Shift_Ins	INS	-	-	G																															gtaagtggtttggccagcccINSgggcagccacctgtaatctc																								novel		C3L-00095_TP	C3L-00095_NB	-	-																c.1660dupC	p.Arg554ProfsTer15	p.R554Pfs*15	ENST00000416240	16/18	363	327	36	451	451	0	sindel-varindel	SLC25A13,frameshift_variant,p.Arg554ProfsTer15,ENST00000416240,NM_001160210.1;SLC25A13,frameshift_variant,p.Arg553ProfsTer15,ENST00000265631,NM_014251.2;SLC25A13,non_coding_transcript_exon_variant,,ENST00000494085,;GS1-25M2.1,downstream_gene_variant,,ENST00000625023,;	G	ENST00000416240	Transcript	frameshift_variant	1851-1852/3192	1660-1661/2031	554/676	R/PX	cgg/cCgg		1		-1	SLC25A13	HGNC	HGNC:10983	protein_coding	YES	CCDS55130.1	ENSP00000400101	Q9UJS0		UPI0000001663	NM_001160210.1			16/18		PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF265,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	10	96121931	96121931	-	G	1	0	1	1	0	0	0	0	0	14740	652	23	0		0	SLC25A13	7	96121931	Frame_Shift_Ins	INS	-	C3L-00095_TP	311460	96121931	63224042	353	3734	83	2									
SLC25A13	0	.	GRCh38	chr7	96121935	96121935	+	Missense_Mutation	SNP	C	C	A																															agtggtttggccagcccgggCagccacctgtaatctcgtct																								rs367948961		C3L-00095_TP	C3L-00095_NB	C	C																c.1657G>T	p.Ala553Ser	p.A553S	ENST00000416240	16/18	409	367	42	469	469	0	strelka-varscan-mutect	SLC25A13,missense_variant,p.Ala553Ser,ENST00000416240,NM_001160210.1;SLC25A13,missense_variant,p.Ala552Ser,ENST00000265631,NM_014251.2;SLC25A13,non_coding_transcript_exon_variant,,ENST00000494085,;GS1-25M2.1,downstream_gene_variant,,ENST00000625023,;	A	ENST00000416240	Transcript	missense_variant	1848/3192	1657/2031	553/676	A/S	Gcc/Tcc	rs367948961	1		-1	SLC25A13	HGNC	HGNC:10983	protein_coding	YES	CCDS55130.1	ENSP00000400101	Q9UJS0		UPI0000001663	NM_001160210.1	tolerated(0.1)		16/18		PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF265,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588																	MODERATE	1	SNV	1			1										PASS		rs367948961	.												A	3	1	10	96121935	96121935	C	A	1	0	0	0	0	1	0	0	0	14740	710	25	2		2	SLC25A13	7	96121935	Missense_Mutation	SNP	C	C3L-00095_TP	4	96121935	63224038	354	3735	83	2									
GPC2	0	.	GRCh38	chr7	100171539	100171539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacgcccccgaggctcacCggccccgcccggctccggtc	3	3	12	23	7	1	0	1	0	0	0	3	2	2	0	8	4	0	2	8	4	0	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1310G>T	p.Arg437Leu	p.R437L	ENST00000292377	8/10	70	63	7	87	87	0	strelka-varscan-mutect	GPC2,missense_variant,p.Arg437Leu,ENST00000292377,NM_152742.2;GAL3ST4,upstream_gene_variant,,ENST00000360039,NM_024637.4;GAL3ST4,upstream_gene_variant,,ENST00000413800,;GAL3ST4,upstream_gene_variant,,ENST00000423751,;GAL3ST4,upstream_gene_variant,,ENST00000411994,;GAL3ST4,upstream_gene_variant,,ENST00000482469,;GAL3ST4,upstream_gene_variant,,ENST00000498000,;GAL3ST4,upstream_gene_variant,,ENST00000460995,;GPC2,downstream_gene_variant,,ENST00000490629,;GPC2,splice_region_variant,,ENST00000486702,;GAL3ST4,upstream_gene_variant,,ENST00000495882,;GPC2,downstream_gene_variant,,ENST00000471717,;GPC2,downstream_gene_variant,,ENST00000480087,;	A	ENST00000292377	Transcript	missense_variant,splice_region_variant	1478/2532	1310/1740	437/579	R/L	cGg/cTg		1		-1	GPC2	HGNC	HGNC:4450	protein_coding	YES	CCDS5689.1	ENSP00000292377	Q8N158		UPI000005340D	NM_152742.2	deleterious(0.02)		8/10		hmmpanther:PTHR10822:SF24,hmmpanther:PTHR10822,Pfam_domain:PF01153																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	100171539	100171539	C	A	1	0	0	0	0	1	0	0	0	6500	666	23	1		1	GPC2	7	100171539	Missense_Mutation	SNP	C	C3L-00095_TP	4049604	100171539	59174434	355	3736											
MOSPD3	0	.	GRCh38	chr7	100614871	100614871	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtcttgtttctcagacccCcgccagcaactggccaccag	8	8	9	16	1	2	1	1	0	2	1	3	2	2	1	5	1	2	2	5	1	1	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.516C>A	p.=	p.P172P	ENST00000393950	4/5	88	83	5	115	115	0	strelka-varscan-mutect	MOSPD3,synonymous_variant,p.=,ENST00000393950,NM_023948.4;MOSPD3,synonymous_variant,p.=,ENST00000424091,NM_001040099.1;MOSPD3,synonymous_variant,p.=,ENST00000223054,NM_001040097.1;MOSPD3,synonymous_variant,p.=,ENST00000379527,NM_001040098.1;MOSPD3,synonymous_variant,p.=,ENST00000493970,;MOSPD3,3_prime_UTR_variant,,ENST00000462372,;MOSPD3,downstream_gene_variant,,ENST00000490309,;MOSPD3,downstream_gene_variant,,ENST00000497456,;	A	ENST00000393950	Transcript	synonymous_variant	798/1191	516/708	172/235	P	ccC/ccA		1		1	MOSPD3	HGNC	HGNC:25078	protein_coding	YES	CCDS5701.1	ENSP00000377522	O75425		UPI000004A079	NM_023948.4			4/5		hmmpanther:PTHR10809:SF55,hmmpanther:PTHR10809																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	100614871	100614871	C	A	1	0	0	0	0	0	0	0	1	9679	637	22	2		2	MOSPD3	7	100614871	Silent	SNP	C	C3L-00095_TP	443332	100614871	58731102	356	3737											
ZAN	0	.	GRCh38	chr7	100793898	100793898	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgccaacctggcagaccCcggggactgcgagggcccct	6	5	14	16	2	0	1	0	0	0	1	0	3	0	2	6	4	3	1	6	4	1	0	rs763131843		C3L-00095_TP	C3L-00095_NB	C	C																c.7866C>A	p.=	p.P2622P	ENST00000613979	43/48	108	95	13	122	122	0	strelka-varscan-mutect	ZAN,synonymous_variant,p.=,ENST00000613979,NM_003386.2;ZAN,synonymous_variant,p.=,ENST00000618565,;ZAN,intron_variant,,ENST00000620596,NM_173059.2;ZAN,intron_variant,,ENST00000546292,;ZAN,missense_variant,p.Pro2644His,ENST00000542585,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,;ZAN,intron_variant,,ENST00000538115,;ZAN,intron_variant,,ENST00000546213,;	A	ENST00000613979	Transcript	synonymous_variant	8031/8669	7866/8439	2622/2812	P	ccC/ccA	rs763131843	1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.2			43/48		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF221,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs763131843	.												A	2	1	10	100793898	100793898	C	A	1	0	0	0	0	0	0	0	1	18074	610	22	2		2	ZAN	7	100793898	Silent	SNP	C	C3L-00095_TP	179027	100793898	58552075	357	3738											
COL26A1	0	.	GRCh38	chr7	101420022	101420022	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggacggtgtcctgccaggtGcagaatggctcggagacggt	7	7	17	10	4	0	2	0	0	0	2	2	4	1	3	2	6	2	2	2	6	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.204G>T	p.=	p.V68V	ENST00000313669	2/13	266	250	16	324	324	0	strelka-varscan-mutect	COL26A1,synonymous_variant,p.=,ENST00000313669,NM_001278563.2;COL26A1,synonymous_variant,p.=,ENST00000613501,NM_133457.4;	T	ENST00000313669	Transcript	synonymous_variant	417/3033	204/1326	68/441	V	gtG/gtT		1		1	COL26A1	HGNC	HGNC:18038	protein_coding	YES	CCDS64739.1	ENSP00000318234	Q96A83		UPI000006F04C	NM_001278563.2			2/13		PROSITE_profiles:PS51041,Pfam_domain:PF07546																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	101420022	101420022	G	T	1	0	0	0	0	0	0	0	1	3473	1306	46	2		2	COL26A1	7	101420022	Silent	SNP	G	C3L-00095_TP	626124	101420022	57925951	358	3739											
SRPK2	0	.	GRCh38	chr7	105142254	105142254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctatatgtgtaatcactttCtgcatttggctcatcaagat	10	16	7	8	0	4	1	3	0	1	1	4	1	4	1	0	1	1	4	0	1	4	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1297G>A	p.Glu433Lys	p.E433K	ENST00000393651	11/16	328	301	27	400	400	0	strelka-mutect	SRPK2,missense_variant,p.Glu422Lys,ENST00000357311,NM_182691.2;SRPK2,missense_variant,p.Glu433Lys,ENST00000393651,NM_182692.2;SRPK2,missense_variant,p.Glu422Lys,ENST00000489828,NM_001278273.1;SRPK2,missense_variant,p.Glu29Lys,ENST00000477925,;SRPK2,intron_variant,,ENST00000485455,;SRPK2,non_coding_transcript_exon_variant,,ENST00000466917,;	T	ENST00000393651	Transcript	missense_variant	1385/3650	1297/2100	433/699	E/K	Gaa/Aaa		1		-1	SRPK2	HGNC	HGNC:11306	protein_coding	YES	CCDS34724.1	ENSP00000377262	P78362		UPI00001A4785	NM_182692.2	tolerated(0.34)		11/16		PROSITE_profiles:PS50011,SMART_domains:SM00220																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	10	105142254	105142254	C	T	1	0	0	0	0	1	0	0	0	15521	922	32	3		3	SRPK2	7	105142254	Missense_Mutation	SNP	C	C3L-00095_TP	3722232	105142254	54203719	359	3740											
ATXN7L1	0	.	GRCh38	chr7	105665077	105665077	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgactcaccatggtttatcCcttgatcctttcgcaggaaa	9	13	7	12	1	1	2	1	2	0	0	4	3	3	3	3	2	0	2	3	2	2	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.567G>T	p.Arg189Ser	p.R189S	ENST00000419735	4/12	185	171	14	237	237	0	varscan-mutect	ATXN7L1,missense_variant,p.Arg189Ser,ENST00000419735,NM_020725.1;ATXN7L1,missense_variant,p.Arg65Ser,ENST00000477775,NM_138495.1;ATXN7L1,missense_variant,p.Arg65Ser,ENST00000472195,;ATXN7L1,non_coding_transcript_exon_variant,,ENST00000472910,;ATXN7L1,non_coding_transcript_exon_variant,,ENST00000485652,;ATXN7L1,missense_variant,p.Arg65Ser,ENST00000474433,NM_001318229.1;	A	ENST00000419735	Transcript	missense_variant	613/5417	567/2586	189/861	R/S	agG/agT		1		-1	ATXN7L1	HGNC	HGNC:22210	protein_coding	YES	CCDS47682.1	ENSP00000410759	Q9ULK2		UPI000162C85E	NM_020725.1	tolerated(0.06)		4/12		hmmpanther:PTHR15117,hmmpanther:PTHR15117:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	105665077	105665077	C	A	1	0	0	0	0	1	0	0	0	1370	622	22	2		2	ATXN7L1	7	105665077	Missense_Mutation	SNP	C	C3L-00095_TP	522823	105665077	53680896	360	3741											
NRCAM	0	.	GRCh38	chr7	108232368	108232368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attagaaactgcagctccgcGttcgttccttgctgtacact	8	13	8	12	3	0	1	0	0	0	1	3	1	2	1	2	0	5	6	2	0	3	5	rs763460173		C3L-00095_TP	C3L-00095_NB	G	G																c.385C>A	p.Arg129Ser	p.R129S	ENST00000379028	7/33	74	67	7	86	86	0	strelka-varscan-mutect	NRCAM,missense_variant,p.Arg129Ser,ENST00000379028,;NRCAM,missense_variant,p.Arg129Ser,ENST00000413765,NM_001193582.1;NRCAM,missense_variant,p.Arg123Ser,ENST00000351718,NM_005010.4;NRCAM,missense_variant,p.Arg129Ser,ENST00000379024,NM_001193583.1,NM_001193584.1;NRCAM,missense_variant,p.Arg129Ser,ENST00000425651,NM_001037132.2;NRCAM,missense_variant,p.Arg124Ser,ENST00000379022,;NRCAM,missense_variant,p.Arg123Ser,ENST00000613830,;NRCAM,missense_variant,p.Arg123Ser,ENST00000417701,;NRCAM,downstream_gene_variant,,ENST00000456431,;NRCAM,downstream_gene_variant,,ENST00000442580,;NRCAM,downstream_gene_variant,,ENST00000419936,;NRCAM,downstream_gene_variant,,ENST00000418239,;	T	ENST00000379028	Transcript	missense_variant	871/6685	385/3915	129/1304	R/S	Cgc/Agc	rs763460173,COSM5062102,COSM5062103,COSM5062104	1		-1	NRCAM	HGNC	HGNC:7994	protein_coding	YES	CCDS47686.1	ENSP00000368314	Q92823		UPI00005E2661		tolerated(0.16)		7/33		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1,1,1						MODERATE	1	SNV	5		0,1,1,1	1										PASS		rs763460173	.												T	3	4	10	108232368	108232368	G	T	1	0	0	0	0	1	0	0	0	10700	1145	40	1		1	NRCAM	7	108232368	Missense_Mutation	SNP	G	C3L-00095_TP	2567291	108232368	51113605	361	3742											
PPP1R3A	0	.	GRCh38	chr7	113880029	113880029	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatttgcttcttctctaaccCctctgctttatttggaaaat	8	18	5	10	0	3	0	0	0	3	0	4	2	3	1	2	1	3	2	2	1	4	7			C3L-00095_TP	C3L-00095_NB	C	C																c.1063G>T	p.Gly355Trp	p.G355W	ENST00000284601	4/4	96	85	11	95	95	0	strelka-varscan-mutect	PPP1R3A,missense_variant,p.Gly355Trp,ENST00000284601,NM_002711.3;PPP1R3A,missense_variant,p.Gly34Trp,ENST00000449795,;PPP1R3A,3_prime_UTR_variant,,ENST00000284602,;	A	ENST00000284601	Transcript	missense_variant	1132/4384	1063/3369	355/1122	G/W	Ggg/Tgg	COSM1635064,COSM4780671	1		-1	PPP1R3A	HGNC	HGNC:9291	protein_coding	YES	CCDS5759.1	ENSP00000284601	Q16821		UPI000013DDAA	NM_002711.3	deleterious(0.01)		4/4		hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	10	113880029	113880029	C	A	1	0	0	0	0	1	0	0	0	12492	623	22	2		2	PPP1R3A	7	113880029	Missense_Mutation	SNP	C	C3L-00095_TP	5647661	113880029	45465944	362	3743											
LMOD2	0	.	GRCh38	chr7	123662910	123662910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaaaggctgccaccacctCctcctcctccccctcctcca	6	7	3	25	0	0	0	0	0	0	0	6	0	6	0	11	1	1	1	11	1	1	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1324C>A	p.Pro442Thr	p.P442T	ENST00000458573	2/3	78	71	7	105	105	0	strelka-varscan-mutect	LMOD2,missense_variant,p.Pro442Thr,ENST00000458573,NM_207163.1;LMOD2,intron_variant,,ENST00000456238,;	A	ENST00000458573	Transcript	missense_variant	1481/2346	1324/1644	442/547	P/T	Cct/Act		1		1	LMOD2	HGNC	HGNC:6648	protein_coding	YES	CCDS47693.1	ENSP00000411932	Q6P5Q4		UPI0001572CCA	NM_207163.1	deleterious(0.01)		2/3		hmmpanther:PTHR10901,hmmpanther:PTHR10901:SF12,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	10	123662910	123662910	C	A	1	0	0	0	0	1	0	0	0	8784	855	30	2		2	LMOD2	7	123662910	Missense_Mutation	SNP	C	C3L-00095_TP	9782881	123662910	35683063	363	3744											
GPR37	0	.	GRCh38	chr7	124764105	124764105	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttggagatgctccgcatgTagtagttgtggcacacgatg	9	11	14	7	2	0	1	0	0	0	1	1	3	1	1	1	2	1	7	1	2	2	4	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.872A>G	p.Tyr291Cys	p.Y291C	ENST00000303921	1/2	96	82	14	138	138	0	strelka-varscan-mutect	GPR37,missense_variant,p.Tyr291Cys,ENST00000303921,NM_005302.3;	C	ENST00000303921	Transcript	missense_variant	1523/3021	872/1842	291/613	Y/C	tAc/tGc		1		-1	GPR37	HGNC	HGNC:4494	protein_coding	YES	CCDS5792.1	ENSP00000306449	O15354		UPI0000001C92	NM_005302.3	tolerated(0.22)		1/2		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF32,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	124764105	124764105	T	C	1	0	0	0	0	1	0	0	0	6576	1638	57	5		5	GPR37	7	124764105	Missense_Mutation	SNP	T	C3L-00095_TP	1101195	124764105	34581868	364	3745											
KCP	0	.	GRCh38	chr7	128907368	128907368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcgtgccccctcgggccagGcacgccccagcccccagcac	6	2	11	22	3	0	0	0	0	0	0	1	0	0	0	7	2	4	2	7	2	0	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.305C>A	p.Ala102Asp	p.A102D	ENST00000610776	3/40	73	69	4	90	90	0	varscan-mutect	KCP,missense_variant,p.Ala102Asp,ENST00000610776,;KCP,missense_variant,p.Ala102Asp,ENST00000613019,;KCP,missense_variant,p.Ala102Asp,ENST00000620378,NM_001135914.1;KCP,non_coding_transcript_exon_variant,,ENST00000612224,;KCP,missense_variant,p.Ala102Asp,ENST00000611280,;KCP,upstream_gene_variant,,ENST00000616669,;	T	ENST00000610776	Transcript	missense_variant	348/5108	305/4887	102/1628	A/D	gCc/gAc		1		-1	KCP	HGNC	HGNC:17585	protein_coding	YES		ENSP00000479679		A0A087WVT8	UPI0004620CE8		tolerated(0.19)		3/40		Gene3D:2.10.70.10,SMART_domains:SM00214,Superfamily_domains:SSF57603																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	128907368	128907368	G	T	1	0	0	0	0	1	0	0	0	8012	1203	42	2		2	KCP	7	128907368	Missense_Mutation	SNP	G	C3L-00095_TP	4143263	128907368	30438605	365	3746											
NUP205	0	.	GRCh38	chr7	135593006	135593006	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaaaatattcagggagcAggtggcagtcctgtttcctg	9	12	13	7	0	1	1	1	1	0	0	3	2	3	2	2	3	1	4	2	3	3	4	rs775354528		C3L-00095_TP	C3L-00095_NB	A	A																c.1644A>C	p.=	p.A548A	ENST00000285968	12/43	133	120	13	191	191	0	strelka-varscan-mutect	NUP205,synonymous_variant,p.=,ENST00000285968,NM_015135.2;NUP205,upstream_gene_variant,,ENST00000607647,;NUP205,upstream_gene_variant,,ENST00000462316,;	C	ENST00000285968	Transcript	synonymous_variant	1670/6266	1644/6039	548/2012	A	gcA/gcC	rs775354528	1		1	NUP205	HGNC	HGNC:18658	protein_coding	YES	CCDS34759.1	ENSP00000285968	Q92621		UPI00001D74D8	NM_015135.2			12/43		Pfam_domain:PF11894,hmmpanther:PTHR31344,hmmpanther:PTHR31344:SF0																	LOW	1	SNV	1			1										PASS		rs775354528	.												C	2	2	10	135593006	135593006	A	C	1	0	0	0	0	0	0	0	1	10824	175	7	5		5	NUP205	7	135593006	Silent	SNP	A	C3L-00095_TP	6685638	135593006	23752967	366	3747											
CHRM2	0	.	GRCh38	chr7	137015024	137015024	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccattaaagtcaaccgccaCctccagaccgtcaacaatta	14	8	4	15	2	2	1	2	0	0	1	4	1	4	1	6	0	2	0	6	0	6	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.159C>A	p.His53Gln	p.H53Q	ENST00000445907	3/3	315	290	25	452	450	2	strelka-varscan-mutect	CHRM2,missense_variant,p.His53Gln,ENST00000445907,NM_001006630.1,NM_001006627.1;CHRM2,missense_variant,p.His53Gln,ENST00000401861,NM_000739.2,NM_001006626.1,NM_001006628.1;CHRM2,missense_variant,p.His53Gln,ENST00000453373,NM_001006631.1,NM_001006629.1;CHRM2,missense_variant,p.His53Gln,ENST00000320658,NM_001006632.1;AC009264.1,intron_variant,,ENST00000439694,;AC009264.1,intron_variant,,ENST00000425981,;AC009264.1,intron_variant,,ENST00000586239,;AC009264.1,intron_variant,,ENST00000597642,;AC009264.1,intron_variant,,ENST00000598184,;AC009264.1,intron_variant,,ENST00000593789,;AC009264.1,intron_variant,,ENST00000592183,;	A	ENST00000445907	Transcript	missense_variant	687/5918	159/1401	53/466	H/Q	caC/caA		1		1	CHRM2	HGNC	HGNC:1951	protein_coding	YES	CCDS5843.1	ENSP00000399745	P08172	A4D1Q0	UPI0000050410	NM_001006630.1,NM_001006627.1	tolerated(1)		3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00243,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF57,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	137015024	137015024	C	A	1	0	0	0	0	1	0	0	0	3137	506	18	2		2	CHRM2	7	137015024	Missense_Mutation	SNP	C	C3L-00095_TP	1422018	137015024	22330949	367	3748											
KIAA1549	0	.	GRCh38	chr7	138917699	138917699	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacagagacgcaggtgcttCcgaaggcgaagagatggagc	13	4	16	8	3	0	3	0	0	0	3	1	8	1	4	1	3	2	2	1	3	2	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1927G>T	p.Glu643Ter	p.E643*	ENST00000422774	2/20	142	130	12	220	219	1	strelka-varscan-mutect	KIAA1549,stop_gained,p.Glu643Ter,ENST00000440172,NM_020910.2;KIAA1549,stop_gained,p.Glu643Ter,ENST00000422774,NM_001164665.1;	A	ENST00000422774	Transcript	stop_gained	1976/6283	1927/5853	643/1950	E/*	Gaa/Taa		1		-1	KIAA1549	HGNC	HGNC:22219	protein_coding	YES	CCDS56513.1	ENSP00000416040	Q9HCM3		UPI0001837EBD	NM_001164665.1			2/20		Low_complexity_(Seg):seg,hmmpanther:PTHR21590:SF4,hmmpanther:PTHR21590																	HIGH	1	SNV	1			1										PASS		rs992612288	.												A	4	1	10	138917699	138917699	C	A	1	0	0	0	0	0	1	0	0	8120	864	30	2		2	KIAA1549	7	138917699	Nonsense_Mutation	SNP	C	C3L-00095_TP	1902675	138917699	20428274	368	3749											
LUC7L2	0	.	GRCh38	chr7	139417717	139417717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagataggagcagagaacGatccaagaggaggtattgat	16	7	14	4	1	0	4	0	1	0	3	1	9	1	6	1	3	2	2	1	3	5	4	rs772791148		C3L-00095_TP	C3L-00095_NB	G	G																c.989G>T	p.Arg330Leu	p.R330L	ENST00000354926	9/10	123	115	8	126	126	0	strelka-varscan-mutect	LUC7L2,missense_variant,p.Arg329Leu,ENST00000619796,NM_001270643.1;LUC7L2,missense_variant,p.Arg330Leu,ENST00000354926,NM_016019.4;LUC7L2,missense_variant,p.Arg327Leu,ENST00000263545,;C7orf55-LUC7L2,missense_variant,p.Arg396Leu,ENST00000541515,NM_001244584.2;LUC7L2,missense_variant,p.Arg327Leu,ENST00000541170,NM_001244585.1;LUC7L2,non_coding_transcript_exon_variant,,ENST00000482860,;LUC7L2,3_prime_UTR_variant,,ENST00000456182,;LUC7L2,non_coding_transcript_exon_variant,,ENST00000498518,;LUC7L2,downstream_gene_variant,,ENST00000463912,;	T	ENST00000354926	Transcript	missense_variant	1343/2645	989/1179	330/392	R/L	cGa/cTa	rs772791148	1		1	LUC7L2	HGNC	HGNC:21608	protein_coding	YES	CCDS43656.1	ENSP00000347005	Q9Y383		UPI000003F000	NM_016019.4	deleterious_low_confidence(0.01)		9/10		hmmpanther:PTHR12375,hmmpanther:PTHR12375:SF28,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs772791148	.												T	3	4	10	139417717	139417717	G	T	1	0	0	0	0	1	0	0	0	8990	1058	37	1		1	LUC7L2	7	139417717	Missense_Mutation	SNP	G	C3L-00095_TP	500018	139417717	19928256	369	3750											
DENND2A	0	.	GRCh38	chr7	140522101	140522101	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggggctggactctggacCtgagtaaggggaggaaaggc	11	5	18	7	0	1	1	0	1	1	0	1	5	1	5	1	8	0	2	1	8	3	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2666-1G>T		p.X889_splice	ENST00000275884		124	116	8	158	158	0	strelka-varscan-mutect	DENND2A,splice_acceptor_variant,,ENST00000275884,NM_001318052.1;DENND2A,splice_acceptor_variant,,ENST00000496613,;DENND2A,splice_acceptor_variant,,ENST00000537639,NM_015689.3;DENND2A,splice_acceptor_variant,,ENST00000461883,;	A	ENST00000275884	Transcript	splice_acceptor_variant	-/3735	2666/3030	889/1009				1		-1	DENND2A	HGNC	HGNC:22212	protein_coding	YES	CCDS43659.1	ENSP00000275884	Q9ULE3		UPI00001C1E63	NM_001318052.1				16/18																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	10	140522101	140522101	C	A	1	0	0	0	0	0	0	1	0	4233	695	24	2		2	DENND2A	7	140522101	Splice_Site	SNP	C	C3L-00095_TP	1104384	140522101	18823872	370	3751											
MGAM	0	.	GRCh38	chr7	142055615	142055615	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtttatccgcatctccacCcgccttccctccaagtacct	7	12	4	18	2	1	0	0	0	1	0	5	0	4	0	7	0	1	3	7	0	3	4			C3L-00095_TP	C3L-00095_NB	C	C																c.3372C>A	p.=	p.T1124T	ENST00000549489	28/48	467	430	37	526	525	1	strelka-varscan-mutect	MGAM,synonymous_variant,p.=,ENST00000475668,;MGAM,synonymous_variant,p.=,ENST00000549489,NM_004668.2;MGAM,synonymous_variant,p.=,ENST00000620571,;	A	ENST00000549489	Transcript	synonymous_variant	3467/6525	3372/5574	1124/1857	T	acC/acA	COSM4919046,COSM4919047,COSM4919048	1		1	MGAM	HGNC	HGNC:7043	protein_coding	YES	CCDS47727.1	ENSP00000447378	O43451		UPI000183CB7B	NM_004668.2			28/48		Pfam_domain:PF16863,Superfamily_domains:SSF74650											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												A	2	1	10	142055615	142055615	C	A	1	0	0	0	0	0	0	0	1	9499	610	22	2		2	MGAM	7	142055615	Silent	SNP	C	C3L-00095_TP	1533514	142055615	17290358	371	3752											
MGAM2	0	.	GRCh38	chr7	142197464	142197464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaagtcctagagaccaGatataccctgcttccttatc	13	10	6	12	0	0	3	0	0	0	3	3	4	2	3	4	0	2	1	4	0	6	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.4697G>T	p.Arg1566Ile	p.R1566I	ENST00000477922	41/48	260	244	16	286	286	0	strelka-varscan-mutect	MGAM2,missense_variant,p.Arg1566Ile,ENST00000477922,NM_001293626.1;MGAM2,non_coding_transcript_exon_variant,,ENST00000496337,;	T	ENST00000477922	Transcript	missense_variant	4751/7867	4697/7548	1566/2515	R/I	aGa/aTa		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	deleterious(0)		41/48		Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF55,Low_complexity_(Seg):seg,Superfamily_domains:SSF51445																	MODERATE	1	SNV	5			1										PASS		rs1408540085	.												T	3	4	10	142197464	142197464	G	T	1	0	0	0	0	1	0	0	0	9500	942	33	2		2	MGAM2	7	142197464	Missense_Mutation	SNP	G	C3L-00095_TP	141849	142197464	17148509	372	3753											
TRPV5	0	.	GRCh38	chr7	142928190	142928190	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggaggtcaggggtccataCgtccactggatgtgcctccg	7	9	14	11	2	1	0	1	0	0	0	4	2	4	2	4	5	2	0	4	5	1	1	rs768142599		C3L-00095_TP	C3L-00095_NB	C	C																c.807G>T	p.=	p.T269T	ENST00000265310	7/15	255	225	30	306	306	0	strelka-varscan-mutect	TRPV5,synonymous_variant,p.=,ENST00000265310,NM_019841.6;TRPV5,synonymous_variant,p.=,ENST00000442623,;TRPV5,intron_variant,,ENST00000439304,;	A	ENST00000265310	Transcript	synonymous_variant	1156/2952	807/2190	269/729	T	acG/acT	rs768142599	1		-1	TRPV5	HGNC	HGNC:3145	protein_coding	YES	CCDS5875.1	ENSP00000265310		A0A0A6YY98	UPI0004620D64	NM_019841.6			7/15		hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF11,TIGRFAM_domain:TIGR00870																	LOW	1	SNV	1			1										PASS		rs768142599	.												A	2	1	10	142928190	142928190	C	A	1	0	0	0	0	0	0	0	1	17105	523	19	1		1	TRPV5	7	142928190	Silent	SNP	C	C3L-00095_TP	730726	142928190	16417783	373	3754											
TRPV5	0	.	GRCh38	chr7	142928773	142928773	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaggggctgcaggtggTccccatgtccatcataggac	7	8	14	12	0	1	0	1	0	0	0	4	1	4	1	4	6	1	2	4	6	1	1	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.680A>T	p.Asp227Val	p.D227V	ENST00000265310	6/15	344	295	49	365	365	0	strelka-varscan-mutect	TRPV5,missense_variant,p.Asp227Val,ENST00000265310,NM_019841.6;TRPV5,missense_variant,p.Asp227Val,ENST00000442623,;TRPV5,missense_variant,p.Asp221Val,ENST00000439304,;	A	ENST00000265310	Transcript	missense_variant	1029/2952	680/2190	227/729	D/V	gAc/gTc		1		-1	TRPV5	HGNC	HGNC:3145	protein_coding	YES	CCDS5875.1	ENSP00000265310		A0A0A6YY98	UPI0004620D64	NM_019841.6	deleterious(0.04)		6/15		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF11,Superfamily_domains:SSF48403,TIGRFAM_domain:TIGR00870																	MODERATE	1	SNV	1			1										PASS		rs1159620418	.												A	3	1	10	142928773	142928773	T	A	1	0	0	0	0	1	0	0	0	17105	1667	58	4		4	TRPV5	7	142928773	Missense_Mutation	SNP	T	C3L-00095_TP	583	142928773	16417200	374	3755											
OR2A25	0	.	GRCh38	chr7	144074363	144074363	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggacaatcctggggctcatCtcactggactccagactcca	9	8	10	14	0	2	1	2	0	1	1	6	3	5	3	3	4	0	1	3	4	1	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.144C>T	p.=	p.I48I	ENST00000408898	1/1	480	408	72	550	550	0	strelka-varscan-mutect	OR2A25,synonymous_variant,p.=,ENST00000408898,NM_001004488.1;OR2A41P,upstream_gene_variant,,ENST00000473586,;	T	ENST00000408898	Transcript	synonymous_variant	182/1014	144/933	48/310	I	atC/atT		1		1	OR2A25	HGNC	HGNC:19562	protein_coding	YES	CCDS43669.1	ENSP00000386167	A4D2G3	A0A126GVV5	UPI00002373C5	NM_001004488.1			1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF146,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												T	2	4	10	144074363	144074363	C	T	1	0	0	0	0	0	0	0	1	11055	903	32	3		3	OR2A25	7	144074363	Silent	SNP	C	C3L-00095_TP	1145590	144074363	15271610	375	3756											
ARHGEF5	0	.	GRCh38	chr7	144365252	144365252	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccccaaagtccagggggagGagcaggagcactcggggagg	10	2	18	11	1	0	0	0	0	0	0	2	4	1	4	3	7	2	2	3	7	1	0			C3L-00095_TP	C3L-00095_NB	G	G																c.2583G>T	p.Arg861Ser	p.R861S	ENST00000056217	2/15	341	322	19	407	407	0	varscan-mutect	ARHGEF5,missense_variant,p.Arg861Ser,ENST00000056217,NM_005435.3;ARHGEF5,missense_variant,p.Arg115Ser,ENST00000474817,;ARHGEF5,intron_variant,,ENST00000498580,;ARHGEF5,upstream_gene_variant,,ENST00000471847,;	T	ENST00000056217	Transcript	missense_variant	2757/5544	2583/4794	861/1597	R/S	agG/agT	COSM3259027	1		1	ARHGEF5	HGNC	HGNC:13209	protein_coding	YES	CCDS34771.1	ENSP00000056217	Q12774		UPI00004028DC	NM_005435.3	deleterious(0)		2/15		hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF2,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	10	144365252	144365252	G	T	1	0	0	0	0	1	0	0	0	1045	1165	41	2		2	ARHGEF5	7	144365252	Missense_Mutation	SNP	G	C3L-00095_TP	290889	144365252	14980721	376	3757											
SSPO	0	.	GRCh38	chr7	149827902	149827902	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctcgggctgcgtgtgcCagcccgggcacttccgcagc	4	6	15	16	4	0	0	0	0	0	0	2	1	1	0	4	2	5	3	4	2	0	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.14908C>T	p.Gln4970Ter	p.Q4970*	ENST00000378016	102/107	180	169	11	247	247	0	strelka-varscan-mutect	SSPO,stop_gained,p.Gln4970Ter,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,downstream_gene_variant,,ENST00000492965,;SSPO,downstream_gene_variant,,ENST00000488835,;SSPO,downstream_gene_variant,,ENST00000461331,;SSPO,non_coding_transcript_exon_variant,,ENST00000465639,;SSPO,non_coding_transcript_exon_variant,,ENST00000472850,;	T	ENST00000378016	Transcript	stop_gained	14908/15589	14908/15453	4970/5150	Q/*	Cag/Tag		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2			102/107		Gene3D:2.10.25.10,Superfamily_domains:SSF57567,hmmpanther:PTHR11339:SF294,hmmpanther:PTHR11339																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	10	149827902	149827902	C	T	1	0	0	0	0	0	1	0	0	15566	595	21	3		3	SSPO	7	149827902	Nonsense_Mutation	SNP	C	C3L-00095_TP	5462650	149827902	9518071	377	3758											
ASB10	0	.	GRCh38	chr7	151181331	151181331	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgggcatcaggacatgcccCccgtcttagaagcagatctg	9	7	12	13	2	3	2	1	0	2	2	3	3	3	3	3	2	2	2	3	2	2	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.712G>C	p.Gly238Arg	p.G238R	ENST00000420175	3/6	170	161	9	221	221	0	strelka-mutect	ASB10,missense_variant,p.Gly238Arg,ENST00000275838,NM_001142460.1;ASB10,missense_variant,p.Gly223Arg,ENST00000377867,NM_080871.3;ASB10,missense_variant,p.Gly238Arg,ENST00000420175,NM_001142459.1;	G	ENST00000420175	Transcript	missense_variant	737/1694	712/1404	238/467	G/R	Ggg/Cgg		1		-1	ASB10	HGNC	HGNC:17185	protein_coding	YES	CCDS47750.2	ENSP00000391137	Q8WXI3		UPI000020F32F	NM_001142459.1	deleterious(0)		3/6		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF33,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs1448233333	.												G	3	3	10	151181331	151181331	C	G	1	0	0	0	0	1	0	0	0	1156	623	22	4		4	ASB10	7	151181331	Missense_Mutation	SNP	C	C3L-00095_TP	1353429	151181331	8164642	378	3759											
EN2	0	.	GRCh38	chr7	155459033	155459033	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccggcgtgggtctactGtacgcgctactcggaccggc	4	8	15	14	6	1	0	0	0	1	0	2	1	1	1	2	5	3	2	2	5	3	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.656G>C	p.Cys219Ser	p.C219S	ENST00000297375	1/2	233	217	16	293	293	0	strelka-varscan-mutect	EN2,missense_variant,p.Cys219Ser,ENST00000297375,NM_001427.3;AC008060.8,upstream_gene_variant,,ENST00000419225,;	C	ENST00000297375	Transcript	missense_variant	905/3395	656/1002	219/333	C/S	tGt/tCt		1		1	EN2	HGNC	HGNC:3343	protein_coding	YES	CCDS5940.1	ENSP00000297375	P19622		UPI000012CA05	NM_001427.3	deleterious(0)		1/2		hmmpanther:PTHR24341:SF5,hmmpanther:PTHR24341																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	155459033	155459033	G	C	1	0	0	0	0	1	0	0	0	4952	1377	48	4		4	EN2	7	155459033	Missense_Mutation	SNP	G	C3L-00095_TP	4277702	155459033	3886940	379	3760											
DLGAP2	0	.	GRCh38	chr8	1632910	1632910	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatctcaggccatggatgcCctcgacctcccgggatgttt	7	10	11	13	2	1	0	1	0	1	0	4	4	2	2	4	3	1	1	4	3	1	1	rs755779128		C3L-00095_TP	C3L-00095_NB	C	C																c.1434C>A	p.=	p.A478A	ENST00000612087	5/11	168	152	16	207	207	0	strelka-varscan-mutect	DLGAP2,synonymous_variant,p.=,ENST00000612087,NM_001277161.1;DLGAP2,synonymous_variant,p.=,ENST00000520901,;DLGAP2,synonymous_variant,p.=,ENST00000637795,;DLGAP2,synonymous_variant,p.=,ENST00000421627,;DLGAP2,synonymous_variant,p.=,ENST00000637152,NM_004745.4;	A	ENST00000612087	Transcript	synonymous_variant	1568/10088	1434/2886	478/961	A	gcC/gcA	rs755779128	1		1	DLGAP2	HGNC	HGNC:2906	protein_coding	YES	CCDS75689.1	ENSP00000484215		H0YBY6	UPI0002B8CE71	NM_001277161.1			5/11		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3																	LOW	1	SNV	5			1										PASS		rs755779128	.												A	2	1	10	1632910	1632910	C	A	1	0	0	0	0	0	0	0	1	4367	610	22	2		2	DLGAP2	8	1632910	Silent	SNP	C	C3L-00095_TP		1632910	143505726	380	3761											
PRSS55	0	.	GRCh38	chr8	10525725	10525725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctcagccccctcatccccCcagcccagtcagtggtgagt	6	7	8	20	0	3	1	3	1	0	0	4	1	4	1	7	1	2	0	7	1	0	0	rs780054130		C3L-00095_TP	C3L-00095_NB	C	C																c.140C>A	p.Pro47His	p.P47H	ENST00000328655	1/5	108	97	11	138	138	0	varscan-mutect	PRSS55,missense_variant,p.Pro47His,ENST00000328655,NM_198464.3;PRSS55,missense_variant,p.Pro47His,ENST00000522210,NM_001197020.1;PRSS51,intron_variant,,ENST00000637190,;PRSS51,intron_variant,,ENST00000523024,;PRSS55,upstream_gene_variant,,ENST00000518641,;	A	ENST00000328655	Transcript	missense_variant	180/1124	140/1059	47/352	P/H	cCc/cAc	rs780054130	1		1	PRSS55	HGNC	HGNC:30824	protein_coding	YES	CCDS5976.1	ENSP00000333003	Q6UWB4		UPI0000160C84	NM_198464.3	deleterious(0.04)		1/5		Low_complexity_(Seg):seg,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF191,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs780054130	.												A	3	1	10	10525725	10525725	C	A	1	0	0	0	0	1	0	0	0	12783	623	22	2		2	PRSS55	8	10525725	Missense_Mutation	SNP	C	C3L-00095_TP	8892815	10525725	134612911	381	3762											
XKR6	0	.	GRCh38	chr8	11201280	11201280	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcccaccgcctcgtcCaggttgtgcagctgagcgaa	6	7	12	16	4	0	1	0	1	0	0	2	2	1	1	5	1	4	4	5	1	1	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.60G>T	p.=	p.L20L	ENST00000416569	1/3	212	199	13	300	300	0	strelka-varscan-mutect	XKR6,synonymous_variant,p.=,ENST00000416569,NM_173683.3;XKR6,synonymous_variant,p.=,ENST00000297303,;AF131215.8,upstream_gene_variant,,ENST00000602443,;XKR6,upstream_gene_variant,,ENST00000529336,;	A	ENST00000416569	Transcript	synonymous_variant	87/3382	60/1926	20/641	L	ctG/ctT		1		-1	XKR6	HGNC	HGNC:27806	protein_coding	YES	CCDS5978.2	ENSP00000416707	Q5GH73		UPI00004C7A9D	NM_173683.3			1/3																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	11201280	11201280	C	A	1	0	0	0	0	0	0	0	1	17994	581	21	2		2	XKR6	8	11201280	Silent	SNP	C	C3L-00095_TP	675555	11201280	133937356	382	3763											
MTUS1	0	.	GRCh38	chr8	17754642	17754642	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattctgaggtatgatttTgggttcccaaatcctttcct	8	17	7	9	0	2	2	1	2	1	0	5	2	5	2	3	2	0	2	3	2	3	6	rs200555209		C3L-00095_TP	C3L-00095_NB	T	T																c.1166A>C	p.Gln389Pro	p.Q389P	ENST00000262102	2/15	228	213	15	355	355	0	strelka-varscan-mutect	MTUS1,missense_variant,p.Gln389Pro,ENST00000381869,NM_001001925.2;MTUS1,missense_variant,p.Gln389Pro,ENST00000262102,NM_001001924.2;MTUS1,missense_variant,p.Gln389Pro,ENST00000519263,;MTUS1,downstream_gene_variant,,ENST00000518755,;MTUS1,downstream_gene_variant,,ENST00000518891,;MTUS1,missense_variant,p.Gln124Pro,ENST00000520196,;MTUS1,non_coding_transcript_exon_variant,,ENST00000523718,;	G	ENST00000262102	Transcript	missense_variant	1391/6160	1166/3813	389/1270	Q/P	cAa/cCa	rs200555209	1		-1	MTUS1	HGNC	HGNC:29789	protein_coding	YES	CCDS43717.1	ENSP00000262102	Q9ULD2		UPI000003FF3C	NM_001001924.2	tolerated(0.17)		2/15		hmmpanther:PTHR24200,hmmpanther:PTHR24200:SF7																	MODERATE	1	SNV	1			1										PASS		rs200555209	.												G	3	3	10	17754642	17754642	T	G	1	0	0	0	0	1	0	0	0	9963	1812	63	5		5	MTUS1	8	17754642	Missense_Mutation	SNP	T	C3L-00095_TP	6553362	17754642	127383994	383	3764											
WRN	0	.	GRCh38	chr8	31157382	31157382	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctagaagagcatagctgaGagcaggattctgcctctcat	11	10	10	10	0	3	3	1	1	3	3	4	5	3	4	1	1	4	3	1	1	3	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.3834G>C	p.Glu1278Asp	p.E1278D	ENST00000298139	33/35	249	232	17	342	342	0	strelka-mutect	WRN,missense_variant,p.Glu1278Asp,ENST00000298139,NM_000553.4;WRN,non_coding_transcript_exon_variant,,ENST00000521620,;	C	ENST00000298139	Transcript	missense_variant	4083/5215	3834/4299	1278/1432	E/D	gaG/gaC		1		1	WRN	HGNC	HGNC:12791	protein_coding	YES	CCDS6082.1	ENSP00000298139	Q14191		UPI000013E49D	NM_000553.4	tolerated(0.15)		33/35		hmmpanther:PTHR13710:SF87,hmmpanther:PTHR13710,Pfam_domain:PF14493																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	31157382	31157382	G	C	1	0	0	0	0	1	0	0	0	17959	933	33	4		4	WRN	8	31157382	Missense_Mutation	SNP	G	C3L-00095_TP	13402740	31157382	113981254	384	3765											
NRG1	0	.	GRCh38	chr8	32764190	32764190	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacacaagctcccagagcAgtaactcagagagtgaaaca	17	4	9	11	0	1	3	1	1	0	2	2	4	2	3	1	0	5	4	1	0	4	1	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.1726A>T	p.Ser576Cys	p.S576C	ENST00000287842	13/13	346	325	21	467	467	0	strelka-varscan-mutect	NRG1,missense_variant,p.Ser568Cys,ENST00000356819,NM_013957.3;NRG1,missense_variant,p.Ser644Cys,ENST00000523534,;NRG1,missense_variant,p.Ser576Cys,ENST00000287842,NM_013956.3;NRG1,missense_variant,p.Ser571Cys,ENST00000405005,NM_013964.3;NRG1,missense_variant,p.Ser521Cys,ENST00000519301,NM_001160001.1;NRG1,3_prime_UTR_variant,,ENST00000539990,NM_001159996.1;NRG1,downstream_gene_variant,,ENST00000523079,NM_001160008.1,NM_001160004.1;NRG1,downstream_gene_variant,,ENST00000521670,NM_013960.3;NRG1,downstream_gene_variant,,ENST00000518104,NM_001159995.1,NM_001159999.1;	T	ENST00000287842	Transcript	missense_variant	1818/2035	1726/1938	576/645	S/C	Agt/Tgt		1		1	NRG1	HGNC	HGNC:7997	protein_coding	YES	CCDS6083.1	ENSP00000287842	Q02297		UPI000013DED7	NM_013956.3	tolerated(0.25)		13/13		Low_complexity_(Seg):seg,hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF7,Pfam_domain:PF02158																	MODERATE	1	SNV	1			1										PASS		rs1395641427	.												T	3	4	10	32764190	32764190	A	T	1	0	0	0	0	1	0	0	0	10705	188	7	4		4	NRG1	8	32764190	Missense_Mutation	SNP	A	C3L-00095_TP	1606808	32764190	112374446	385	3766											
PRKDC	0	.	GRCh38	chr8	47800987	47800987	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgacacgttgttctcatCtgttggattaaaaaaacaaa	14	13	7	7	1	2	1	1	1	2	0	3	2	2	2	0	1	1	4	0	1	5	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.9923-1G>T		p.X3308_splice	ENST00000314191		179	169	10	206	206	0	strelka-varscan-mutect	PRKDC,splice_acceptor_variant,,ENST00000314191,NM_006904.6;PRKDC,splice_acceptor_variant,,ENST00000338368,NM_001081640.1;Y_RNA,downstream_gene_variant,,ENST00000384719,;	A	ENST00000314191	Transcript	splice_acceptor_variant	-/13509	9923/12387	3308/4128				1		-1	PRKDC	HGNC	HGNC:9413	protein_coding	YES	CCDS75735.1	ENSP00000313420	P78527		UPI0000013593	NM_006904.6				70/85																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	10	47800987	47800987	C	A	1	0	0	0	0	0	0	1	0	12654	927	32	2		2	PRKDC	8	47800987	Splice_Site	SNP	C	C3L-00095_TP	15036797	47800987	97337649	386	3767											
SNTG1	0	.	GRCh38	chr8	50704631	50704631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggaccgacggaaacagtGcttcaccgtgcagtctgagt	9	8	13	11	3	2	1	1	1	1	0	2	4	2	3	2	2	3	3	2	2	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1070G>T	p.Cys357Phe	p.C357F	ENST00000522124	16/19	284	264	20	446	443	3	strelka-varscan-mutect	SNTG1,missense_variant,p.Cys357Phe,ENST00000522124,NM_018967.3;SNTG1,missense_variant,p.Cys357Phe,ENST00000518864,NM_001287813.1;SNTG1,missense_variant,p.Cys357Phe,ENST00000517473,NM_001287814.1;SNTG1,3_prime_UTR_variant,,ENST00000520825,;SNTG1,3_prime_UTR_variant,,ENST00000524004,;	T	ENST00000522124	Transcript	missense_variant	1731/3504	1070/1554	357/517	C/F	tGc/tTc		1		1	SNTG1	HGNC	HGNC:13740	protein_coding	YES	CCDS6147.1	ENSP00000429842	Q9NSN8	A0A024R7Y0	UPI000004A0DD	NM_018967.3	deleterious(0)		16/19		Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF2,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	50704631	50704631	G	T	1	0	0	0	0	1	0	0	0	15194	1319	46	2		2	SNTG1	8	50704631	Missense_Mutation	SNP	G	C3L-00095_TP	2903644	50704631	94434005	387	3768											
OPRK1	0	.	GRCh38	chr8	53250900	53250900	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcgggctccagctgcgcGtcctccgagccggcgctgcc	2	6	15	18	7	0	0	0	0	0	0	3	1	3	0	5	2	5	3	5	2	0	0	rs758030791		C3L-00095_TP	C3L-00095_NB	G	G																c.138C>G	p.Asp46Glu	p.D46E	ENST00000265572	2/4	234	204	30	319	319	0	strelka-varscan-mutect	OPRK1,missense_variant,p.Asp46Glu,ENST00000265572,NM_001318497.1,NM_000912.3;OPRK1,missense_variant,p.Asp32Glu,ENST00000613482,;OPRK1,missense_variant,p.Asp46Glu,ENST00000520287,;OPRK1,5_prime_UTR_variant,,ENST00000612786,NM_001282904.1;OPRK1,missense_variant,p.Asp46Glu,ENST00000522508,;	C	ENST00000265572	Transcript	missense_variant	436/5014	138/1143	46/380	D/E	gaC/gaG	rs758030791,COSM4333181,COSM5078347	1		-1	OPRK1	HGNC	HGNC:8154	protein_coding	YES	CCDS6152.1	ENSP00000265572	P41145		UPI000011D794	NM_001318497.1,NM_000912.3	tolerated(0.38)		2/4		Gene3D:1.20.1070.10,Prints_domain:PR00532,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF1,Superfamily_domains:SSF81321											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs758030791	.												C	3	2	10	53250900	53250900	G	C	1	0	0	0	0	1	0	0	0	10961	1136	40	4		4	OPRK1	8	53250900	Missense_Mutation	SNP	G	C3L-00095_TP	2546269	53250900	91887736	388	3769											
TRPA1	0	.	GRCh38	chr8	72055781	72055781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacagaaccagggcccccCtgtctacatgcataatgtag	11	10	8	12	0	1	1	0	0	1	1	1	1	1	1	4	1	4	2	4	1	5	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1269G>T	p.Gln423His	p.Q423H	ENST00000262209	11/27	303	283	20	365	365	0	varscan-mutect	TRPA1,missense_variant,p.Gln423His,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Gln275His,ENST00000523582,;MSC-AS1,non_coding_transcript_exon_variant,,ENST00000457356,;MSC-AS1,intron_variant,,ENST00000518916,;MSC-AS1,intron_variant,,ENST00000519068,;MSC-AS1,downstream_gene_variant,,ENST00000522519,;MSC-AS1,downstream_gene_variant,,ENST00000512290,;MSC-AS1,downstream_gene_variant,,ENST00000519751,;MSC-AS1,downstream_gene_variant,,ENST00000524152,;TRPA1,upstream_gene_variant,,ENST00000520788,;	A	ENST00000262209	Transcript	missense_variant	1477/5223	1269/3360	423/1119	Q/H	caG/caT		1		-1	TRPA1	HGNC	HGNC:497	protein_coding	YES	CCDS34908.1	ENSP00000262209	O75762		UPI000021081A	NM_007332.2	tolerated(0.24)		11/27		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF6,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs764890261	.												A	3	1	10	72055781	72055781	C	A	1	0	0	0	0	1	0	0	0	17082	680	24	2		2	TRPA1	8	72055781	Missense_Mutation	SNP	C	C3L-00095_TP	18804881	72055781	73082855	389	3770											
ZFHX4	0	.	GRCh38	chr8	76854640	76854640	+	Silent	SNP	G	G	T																															cacaccacagcccccacaacGgttgctgcttccctaaaaag																								rs370865316		C3L-00095_TP	C3L-00095_NB	G	G																c.7719G>T	p.=	p.T2573T	ENST00000521891	10/11	121	110	11	160	157	3	strelka-varscan-mutect	ZFHX4,synonymous_variant,p.=,ENST00000521891,NM_024721.4;ZFHX4,synonymous_variant,p.=,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	T	ENST00000521891	Transcript	synonymous_variant	8167/14019	7719/10851	2573/3616	T	acG/acT	rs370865316,COSM5313228,COSM5313229	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4			10/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs370865316	.												T	2	4	10	76854640	76854640	G	T	1	0	0	0	0	0	0	0	1	18213	1103	39	1		1	ZFHX4	8	76854640	Silent	SNP	G	C3L-00095_TP	4798859	76854640	68283996	390	3771	84	2									
ZFHX4	0	.	GRCh38	chr8	76854641	76854641	+	Missense_Mutation	SNP	G	G	T																															acaccacagcccccacaacgGttgctgcttccctaaaaagg																								rs755080090		C3L-00095_TP	C3L-00095_NB	G	G																c.7720G>T	p.Val2574Phe	p.V2574F	ENST00000521891	10/11	123	112	11	161	160	1	strelka-varscan-mutect	ZFHX4,missense_variant,p.Val2574Phe,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Val2548Phe,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	T	ENST00000521891	Transcript	missense_variant	8168/14019	7720/10851	2574/3616	V/F	Gtt/Ttt	rs755080090	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	tolerated(0.22)		10/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	MODERATE	1	SNV	5			1										PASS		rs755080090	.												T	3	4	10	76854641	76854641	G	T	1	0	0	0	0	1	0	0	0	18213	1261	44	2		2	ZFHX4	8	76854641	Missense_Mutation	SNP	G	C3L-00095_TP	1	76854641	68283995	391	3772	84	2									
POP1	0	.	GRCh38	chr8	98156344	98156344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaatcggcagggcctgaGaggatcacagaccaggaggc	13	3	15	10	1	1	3	1	1	0	3	2	6	1	5	2	5	0	1	2	5	2	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2352G>T	p.Glu784Asp	p.E784D	ENST00000401707	15/16	85	66	19	112	111	1	strelka-varscan-mutect	POP1,missense_variant,p.Glu784Asp,ENST00000401707,NM_001145860.1,NM_001145861.1;POP1,missense_variant,p.Glu784Asp,ENST00000349693,NM_015029.2;POP1,non_coding_transcript_exon_variant,,ENST00000517435,;	T	ENST00000401707	Transcript	missense_variant	2433/4719	2352/3075	784/1024	E/D	gaG/gaT		1		1	POP1	HGNC	HGNC:30129	protein_coding	YES	CCDS6277.1	ENSP00000385787	Q99575		UPI0000131F33	NM_001145860.1,NM_001145861.1	tolerated(0.21)		15/16		hmmpanther:PTHR22731,hmmpanther:PTHR22731:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	10	98156344	98156344	G	T	1	0	0	0	0	1	0	0	0	12365	933	33	2		2	POP1	8	98156344	Missense_Mutation	SNP	G	C3L-00095_TP	21301703	98156344	46982292	392	3773											
STK3	0	.	GRCh38	chr8	98774804	98774804	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtcaaactgtcttcactCagcttttttagtttactgat	9	19	5	8	0	4	1	3	1	1	0	4	1	4	1	0	0	3	2	0	0	4	7	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.126G>T	p.=	p.L42L	ENST00000523601	4/13	209	183	26	114	114	0	strelka-mutect	STK3,synonymous_variant,p.=,ENST00000523601,NM_001256312.1;STK3,synonymous_variant,p.=,ENST00000419617,NM_006281.3;STK3,synonymous_variant,p.=,ENST00000617590,NM_001256313.1;STK3,synonymous_variant,p.=,ENST00000518165,;STK3,synonymous_variant,p.=,ENST00000424861,;STK3,synonymous_variant,p.=,ENST00000521649,;	A	ENST00000523601	Transcript	synonymous_variant	526/3107	126/1560	42/519	L	ctG/ctT		1		-1	STK3	HGNC	HGNC:11406	protein_coding	YES	CCDS59108.1	ENSP00000429744	Q13188		UPI00004FB517	NM_001256312.1			4/13		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF425																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	10	98774804	98774804	C	A	1	0	0	0	0	0	0	0	1	15672	813	29	2		2	STK3	8	98774804	Silent	SNP	C	C3L-00095_TP	618460	98774804	46363832	393	3774											
CSMD3	0	.	GRCh38	chr8	112352514	112352514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctaggagtttgtggttcagGacaggaatccaaaccaattg	12	10	12	7	0	1	0	1	0	0	0	2	3	2	3	2	4	1	3	2	4	4	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.6157C>A	p.Pro2053Thr	p.P2053T	ENST00000297405	39/71	331	278	53	244	244	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Pro2053Thr,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Pro2013Thr,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Pro1949Thr,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Pro1323Thr,ENST00000339701,;	T	ENST00000297405	Transcript	missense_variant	6402/13212	6157/11124	2053/3707	P/T	Cct/Act		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0.01)		39/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	112352514	112352514	G	T	1	0	0	0	0	1	0	0	0	3747	1174	41	2		2	CSMD3	8	112352514	Missense_Mutation	SNP	G	C3L-00095_TP	13577710	112352514	32786122	394	3775											
CSMD3	0	.	GRCh38	chr8	112975930	112975930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtgtatctgctggatgagGagagagcccgtccttggacg	7	11	15	8	2	1	2	0	1	1	1	2	6	2	5	2	3	2	2	2	3	1	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1249C>A	p.Pro417Thr	p.P417T	ENST00000297405	7/71	158	146	12	219	218	1	strelka-varscan-mutect	CSMD3,missense_variant,p.Pro417Thr,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Pro377Thr,ENST00000343508,NM_198124.1;CSMD3,intron_variant,,ENST00000455883,NM_052900.2;	T	ENST00000297405	Transcript	missense_variant	1494/13212	1249/11124	417/3707	P/T	Cct/Act		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	tolerated(1)		7/71																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	112975930	112975930	G	T	1	0	0	0	0	1	0	0	0	3747	1174	41	2		2	CSMD3	8	112975930	Missense_Mutation	SNP	G	C3L-00095_TP	623416	112975930	32162706	395	3776											
FER1L6	0	.	GRCh38	chr8	124035333	124035333	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaagtcgacgtgtacctGtggctgggctccatcaagca	10	8	12	11	2	1	0	1	0	0	0	3	1	2	0	2	2	2	5	2	2	4	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2343G>C	p.=	p.L781L	ENST00000522917	19/41	255	235	20	286	286	0	strelka-varscan-mutect	FER1L6,synonymous_variant,p.=,ENST00000522917,NM_001039112.2;FER1L6-AS1,intron_variant,,ENST00000518567,;RP11-959I15.4,downstream_gene_variant,,ENST00000522005,;	C	ENST00000522917	Transcript	synonymous_variant	2549/6051	2343/5574	781/1857	L	ctG/ctC		1		1	FER1L6	HGNC	HGNC:28065	protein_coding	YES	CCDS43767.1	ENSP00000428280	Q2WGJ9		UPI0000E9B4AA	NM_001039112.2			19/41		hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546,Pfam_domain:PF08150,SMART_domains:SM01201																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	10	124035333	124035333	G	C	1	0	0	0	0	0	0	0	1	5678	1364	48	4		4	FER1L6	8	124035333	Silent	SNP	G	C3L-00095_TP	11059403	124035333	21103303	396	3777											
FER1L6	0	.	GRCh38	chr8	124082372	124082372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacatgattggcacagatgaCcttattggtgagaccaagat	13	10	11	7	0	0	5	0	3	0	3	0	7	0	5	2	2	0	1	2	2	2	3	rs558150924		C3L-00095_TP	C3L-00095_NB	C	C																c.4305C>A	p.Asp1435Glu	p.D1435E	ENST00000522917	33/41	236	207	29	247	246	1	strelka-varscan-mutect	FER1L6,missense_variant,p.Asp1435Glu,ENST00000522917,NM_001039112.2;FER1L6-AS2,intron_variant,,ENST00000520031,;	A	ENST00000522917	Transcript	missense_variant	4511/6051	4305/5574	1435/1857	D/E	gaC/gaA	rs558150924	1		1	FER1L6	HGNC	HGNC:28065	protein_coding	YES	CCDS43767.1	ENSP00000428280	Q2WGJ9		UPI0000E9B4AA	NM_001039112.2	deleterious(0.01)		33/41		PROSITE_profiles:PS50004,hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		rs558150924	.												A	3	1	10	124082372	124082372	C	A	1	0	0	0	0	1	0	0	0	5678	506	18	2		2	FER1L6	8	124082372	Missense_Mutation	SNP	C	C3L-00095_TP	47039	124082372	21056264	397	3778											
COL22A1	0	.	GRCh38	chr8	138760281	138760281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccacaccagaagggccggGcctgccctggaggaaagaaa	12	3	14	12	1	0	2	0	0	0	2	0	4	0	4	5	4	2	0	5	4	3	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1864C>A	p.Pro622Thr	p.P622T	ENST00000303045	18/65	116	110	6	105	105	0	strelka-varscan-mutect	COL22A1,missense_variant,p.Pro622Thr,ENST00000303045,NM_152888.2;COL22A1,intron_variant,,ENST00000435777,;	T	ENST00000303045	Transcript	missense_variant	2311/6346	1864/4881	622/1626	P/T	Ccc/Acc		1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2	tolerated(0.14)		18/65		hmmpanther:PTHR24023,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	138760281	138760281	G	T	1	0	0	0	0	1	0	0	0	3469	1203	42	2		2	COL22A1	8	138760281	Missense_Mutation	SNP	G	C3L-00095_TP	14677909	138760281	6378355	398	3779											
KCNK9	0	.	GRCh38	chr8	139618540	139618540	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttgtacctgggccggctGggccgcggctcctcagggat	3	8	16	14	3	1	0	1	0	0	0	2	1	2	1	5	5	1	3	5	5	1	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.843C>A	p.=	p.P281P	ENST00000520439	2/2	239	225	14	219	219	0	strelka-mutect	KCNK9,synonymous_variant,p.=,ENST00000520439,NM_001282534.1;KCNK9,synonymous_variant,p.=,ENST00000303015,;KCNK9,upstream_gene_variant,,ENST00000523477,;KCNK9,upstream_gene_variant,,ENST00000519923,;KCNK9,synonymous_variant,p.=,ENST00000522317,;	T	ENST00000520439	Transcript	synonymous_variant	907/1441	843/1125	281/374	P	ccC/ccA		1		-1	KCNK9	HGNC	HGNC:6283	protein_coding	YES	CCDS6377.1	ENSP00000430676	Q9NPC2	A0A024R9H3	UPI000000D8AC	NM_001282534.1			2/2		hmmpanther:PTHR11003:SF75,hmmpanther:PTHR11003,PIRSF_domain:PIRSF038061																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	139618540	139618540	G	T	1	0	0	0	0	0	0	0	1	7989	1335	47	2		2	KCNK9	8	139618540	Silent	SNP	G	C3L-00095_TP	858259	139618540	5520096	399	3780											
JRK	0	.	GRCh38	chr8	142665414	142665414	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcacacatcagcacggtcagCcggtccttgccctgcttggg	6	8	12	15	2	2	0	2	0	0	0	3	0	3	0	3	3	4	3	3	3	0	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.645G>T	p.=	p.R215R	ENST00000612905	2/2	228	194	34	255	255	0	strelka-varscan-mutect	JRK,synonymous_variant,p.=,ENST00000612905,NM_003724.3;JRK,synonymous_variant,p.=,ENST00000614134,;JRK,synonymous_variant,p.=,ENST00000615982,NM_001279352.1;JRK,synonymous_variant,p.=,ENST00000571961,NM_001077527.2;JRK,downstream_gene_variant,,ENST00000503272,;PSCA,upstream_gene_variant,,ENST00000505305,;PSCA,upstream_gene_variant,,ENST00000510969,;JRK,downstream_gene_variant,,ENST00000591357,;JRK,upstream_gene_variant,,ENST00000506774,;	A	ENST00000612905	Transcript	synonymous_variant	1170/9124	645/1707	215/568	R	cgG/cgT		1		-1	JRK	HGNC	HGNC:6199	protein_coding	YES	CCDS75796.1	ENSP00000482410		Q86XJ5	UPI000000DA37	NM_003724.3			2/2		hmmpanther:PTHR19303:SF191,hmmpanther:PTHR19303,Pfam_domain:PF03184																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	10	142665414	142665414	C	A	1	0	0	0	0	0	0	0	1	7876	726	26	2		2	JRK	8	142665414	Silent	SNP	C	C3L-00095_TP	3046874	142665414	2473222	400	3781											
CYP11B2	0	.	GRCh38	chr8	142913366	142913366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcactgatgctggctgcgGcggccaggctctcctggcgc	3	9	15	14	3	2	1	1	1	1	0	3	1	2	1	2	5	2	4	2	5	0	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1040C>T	p.Ala347Val	p.A347V	ENST00000323110	6/9	416	391	25	406	406	0	varscan-mutect	CYP11B2,missense_variant,p.Ala347Val,ENST00000323110,NM_000498.3;GML,intron_variant,,ENST00000522728,;	A	ENST00000323110	Transcript	missense_variant	1043/2936	1040/1512	347/503	A/V	gCc/gTc		1		-1	CYP11B2	HGNC	HGNC:2592	protein_coding	YES	CCDS6393.1	ENSP00000325822	P19099		UPI00001282CF	NM_000498.3	deleterious(0.04)		6/9		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24279,hmmpanther:PTHR24279:SF46,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	142913366	142913366	G	A	1	0	0	0	0	1	0	0	0	3949	1203	42	3		3	CYP11B2	8	142913366	Missense_Mutation	SNP	G	C3L-00095_TP	247952	142913366	2225270	401	3782											
NAPRT	0	.	GRCh38	chr8	143576431	143576431	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccccgggaaactcaCtgggctgcagcagctcggaa	8	6	11	16	2	1	0	1	0	0	0	4	2	3	2	4	3	4	4	4	3	2	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1022+1G>T		p.X341_splice	ENST00000449291		62	52	10	59	59	0	strelka-varscan-mutect	NAPRT,splice_donor_variant,,ENST00000449291,NM_145201.5;NAPRT,splice_donor_variant,,ENST00000435154,;NAPRT,splice_donor_variant,,ENST00000426292,NM_001286829.1;MROH6,upstream_gene_variant,,ENST00000398882,NM_001100878.1;EEF1D,downstream_gene_variant,,ENST00000532741,;EEF1D,downstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,downstream_gene_variant,,ENST00000618139,;EEF1D,downstream_gene_variant,,ENST00000442189,NM_032378.4;MROH6,upstream_gene_variant,,ENST00000529971,;EEF1D,downstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,downstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,downstream_gene_variant,,ENST00000529272,;EEF1D,downstream_gene_variant,,ENST00000395119,NM_001289950.1,NM_001960.4;EEF1D,downstream_gene_variant,,ENST00000530445,;EEF1D,downstream_gene_variant,,ENST00000524624,;EEF1D,downstream_gene_variant,,ENST00000534380,;EEF1D,downstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,downstream_gene_variant,,ENST00000528610,NM_001130056.2;EEF1D,downstream_gene_variant,,ENST00000530191,;EEF1D,downstream_gene_variant,,ENST00000533204,;EEF1D,downstream_gene_variant,,ENST00000531621,;EEF1D,downstream_gene_variant,,ENST00000531218,;EEF1D,downstream_gene_variant,,ENST00000533494,;EEF1D,downstream_gene_variant,,ENST00000530616,;EEF1D,downstream_gene_variant,,ENST00000533749,;EEF1D,downstream_gene_variant,,ENST00000534377,;EEF1D,downstream_gene_variant,,ENST00000530109,;EEF1D,downstream_gene_variant,,ENST00000529516,;EEF1D,downstream_gene_variant,,ENST00000529576,;EEF1D,downstream_gene_variant,,ENST00000532400,;EEF1D,downstream_gene_variant,,ENST00000528382,;RP11-661A12.9,intron_variant,,ENST00000531730,;RP11-661A12.7,upstream_gene_variant,,ENST00000529247,;RP11-661A12.8,upstream_gene_variant,,ENST00000623257,;NAPRT,splice_donor_variant,,ENST00000340490,;NAPRT,splice_donor_variant,,ENST00000525583,;NAPRT,splice_donor_variant,,ENST00000488096,;NAPRT,splice_donor_variant,,ENST00000532645,;NAPRT,non_coding_transcript_exon_variant,,ENST00000464332,;EEF1D,downstream_gene_variant,,ENST00000527741,;EEF1D,downstream_gene_variant,,ENST00000526786,;NAPRT,downstream_gene_variant,,ENST00000480946,;EEF1D,downstream_gene_variant,,ENST00000524397,;EEF1D,downstream_gene_variant,,ENST00000529007,;EEF1D,downstream_gene_variant,,ENST00000533833,;EEF1D,downstream_gene_variant,,ENST00000534232,;NAPRT,downstream_gene_variant,,ENST00000462059,;NAPRT,upstream_gene_variant,,ENST00000460623,;EEF1D,downstream_gene_variant,,ENST00000530848,;NAPRT,downstream_gene_variant,,ENST00000491904,;NAPRT,upstream_gene_variant,,ENST00000529179,;NAPRT,upstream_gene_variant,,ENST00000498076,;	A	ENST00000449291	Transcript	splice_donor_variant	-/1965	1022/1617	341/538				1		-1	NAPRT	HGNC	HGNC:30450	protein_coding	YES	CCDS6403.2	ENSP00000401508	Q6XQN6		UPI000058EC33	NM_145201.5				7/12																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	10	143576431	143576431	C	A	1	0	0	0	0	0	0	1	0	10175	579	20	2		2	NAPRT	8	143576431	Splice_Site	SNP	C	C3L-00095_TP	663065	143576431	1562205	402	3783											
ZNF250	0	.	GRCh38	chr8	144882720	144882720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagaagctttgctttgtttCattattttcttgatcaatcc	9	19	5	8	0	3	2	2	1	1	1	4	2	4	2	1	0	2	3	1	0	3	7			C3L-00095_TP	C3L-00095_NB	C	C																c.478G>A	p.Glu160Lys	p.E160K	ENST00000292579	6/6	309	282	27	325	325	0	strelka-varscan-mutect	ZNF250,missense_variant,p.Glu160Lys,ENST00000292579,NM_021061.4;ZNF250,missense_variant,p.Glu155Lys,ENST00000417550,NM_001109689.3;ZNF250,missense_variant,p.Glu155Lys,ENST00000533622,;ZNF250,missense_variant,p.Glu134Lys,ENST00000533221,;ZNF250,downstream_gene_variant,,ENST00000525694,;ZNF250,intron_variant,,ENST00000533543,;ZNF250,intron_variant,,ENST00000529780,;ZNF250,intron_variant,,ENST00000528258,;	T	ENST00000292579	Transcript	missense_variant	595/6364	478/1683	160/560	E/K	Gaa/Aaa	COSM750260	1		-1	ZNF250	HGNC	HGNC:13044	protein_coding	YES	CCDS34972.1	ENSP00000292579	P15622		UPI0000197F51	NM_021061.4	tolerated(0.37)		6/6		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF112											1						MODERATE	1	SNV	1		1	1										PASS		rs763607592	.												T	3	4	10	144882720	144882720	C	T	1	0	0	0	0	1	0	0	0	18371	835	29	3		3	ZNF250	8	144882720	Missense_Mutation	SNP	C	C3L-00095_TP	1306289	144882720	255916	403	3784											
GLIS3	0	.	GRCh38	chr9	4117924	4117924	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccttctcgatgtgccgCacgagctcctcctgctggtc	4	11	11	15	3	1	0	0	0	1	0	5	3	3	1	4	2	3	3	4	2	0	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1554G>T	p.=	p.V518V	ENST00000381971	4/11	237	219	18	354	354	0	strelka-varscan-mutect	GLIS3,synonymous_variant,p.=,ENST00000324333,NM_152629.3;GLIS3,synonymous_variant,p.=,ENST00000381971,NM_001042413.1;GLIS3,downstream_gene_variant,,ENST00000477901,;GLIS3,downstream_gene_variant,,ENST00000481827,;GLIS3,downstream_gene_variant,,ENST00000462164,;GLIS3,downstream_gene_variant,,ENST00000478315,;GLIS3,downstream_gene_variant,,ENST00000478844,;GLIS3,downstream_gene_variant,,ENST00000490709,;GLIS3,downstream_gene_variant,,ENST00000473846,;GLIS3,non_coding_transcript_exon_variant,,ENST00000467497,;GLIS3,downstream_gene_variant,,ENST00000491889,;	A	ENST00000381971	Transcript	synonymous_variant	2148/3961	1554/2793	518/930	V	gtG/gtT		1		-1	GLIS3	HGNC	HGNC:28510	protein_coding	YES	CCDS43784.1	ENSP00000371398	Q8NEA6		UPI0000DA4C5E	NM_001042413.1			4/11		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF83,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	10	4117924	4117924	C	A	1	0	0	0	0	0	0	0	1	6325	697	25	2		2	GLIS3	9	4117924	Silent	SNP	C	C3L-00095_TP		4117924	134276793	404	3785											
DCTN3	0	.	GRCh38	chr9	34617919	34617919	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagcttagaggcatcaggTatggcaatgcggtcgatgta	10	10	14	7	2	1	1	1	0	0	1	2	2	1	1	0	4	3	6	0	4	4	3	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.234A>G	p.Ile78Met	p.I78M	ENST00000259632	3/7	146	130	16	202	202	0	strelka-varscan-mutect	DCTN3,missense_variant,p.Ile78Met,ENST00000378913,;DCTN3,missense_variant,p.Ile78Met,ENST00000341694,NM_024348.3,NM_001281426.1;DCTN3,missense_variant,p.Ile78Met,ENST00000259632,NM_007234.4;DCTN3,missense_variant,p.Ile78Met,ENST00000378916,NM_001281425.1;DCTN3,missense_variant,p.Ile78Met,ENST00000477738,NM_001281427.1;DCTN3,missense_variant,p.Ile71Met,ENST00000421919,;DCTN3,missense_variant,p.Ile78Met,ENST00000378911,;ARID3C,downstream_gene_variant,,ENST00000378909,NM_001017363.1;DCTN3,upstream_gene_variant,,ENST00000479399,;DCTN3,upstream_gene_variant,,ENST00000472418,;DCTN3,upstream_gene_variant,,ENST00000472074,;DCTN3,upstream_gene_variant,,ENST00000481438,;	C	ENST00000259632	Transcript	missense_variant	250/808	234/561	78/186	I/M	atA/atG		1		-1	DCTN3	HGNC	HGNC:2713	protein_coding	YES	CCDS6560.1	ENSP00000259632	O75935		UPI0000072AE5	NM_007234.4	tolerated(0.16)		3/7		Pfam_domain:PF07426,hmmpanther:PTHR28360																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	34617919	34617919	T	C	1	0	0	0	0	1	0	0	0	4111	1628	57	5		5	DCTN3	9	34617919	Missense_Mutation	SNP	T	C3L-00095_TP	30499995	34617919	103776798	405	3786											
HRCT1	0	.	GRCh38	chr9	35906562	35906562	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctccaccaccaccaccAcccccgccacacccctcacc	8	2	4	27	1	1	0	1	0	0	0	2	0	2	0	12	1	0	0	12	1	0	0	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.275A>C	p.His92Pro	p.H92P	ENST00000354323	1/1	167	153	14	194	191	3	strelka-mutect	HRCT1,missense_variant,p.His92Pro,ENST00000354323,NM_001039792.1;LINC00961,upstream_gene_variant,,ENST00000443779,;LINC00961,upstream_gene_variant,,ENST00000636776,;LINC00961,upstream_gene_variant,,ENST00000638062,;	C	ENST00000354323	Transcript	missense_variant	371/950	275/348	92/115	H/P	cAc/cCc		1		1	HRCT1	HGNC	HGNC:33872	protein_coding	YES	CCDS35012.1	ENSP00000346283	Q6UXD1		UPI0000048EC9	NM_001039792.1	tolerated_low_confidence(0.3)		1/1		Pfam_domain:PF15758,hmmpanther:PTHR23009,hmmpanther:PTHR23009:SF2,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		rs965473294	.												C	3	2	10	35906562	35906562	A	C	1	0	0	0	0	1	0	0	0	7248	159	6	5		5	HRCT1	9	35906562	Missense_Mutation	SNP	A	C3L-00095_TP	1288643	35906562	102488155	406	3787											
FRMPD1	0	.	GRCh38	chr9	37745077	37745077	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagacagctccttctccctCtccagtggtgaccctaaccc	7	9	8	17	0	2	2	0	1	2	1	5	3	3	2	5	2	2	1	5	2	1	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.3045C>T	p.=	p.L1015L	ENST00000539465	16/16	255	232	23	372	371	1	strelka-varscan-mutect	FRMPD1,synonymous_variant,p.=,ENST00000539465,;FRMPD1,synonymous_variant,p.=,ENST00000377765,NM_014907.2;RP11-613M10.9,intron_variant,,ENST00000540557,;	T	ENST00000539465	Transcript	synonymous_variant	3638/5465	3045/4737	1015/1578	L	ctC/ctT		1		1	FRMPD1	HGNC	HGNC:29159	protein_coding	YES	CCDS6612.1	ENSP00000444411	Q5SYB0		UPI000013D2CC				16/16																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	37745077	37745077	C	T	1	0	0	0	0	0	0	0	1	5927	900	32	3		3	FRMPD1	9	37745077	Silent	SNP	C	C3L-00095_TP	1838515	37745077	100649640	407	3788											
SPATA31A6	0	.	GRCh38	chr9	42183847	42183847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttacttccattgtgatgacCcaccctcaccatcgcctggg	7	11	7	16	1	1	2	1	2	0	0	3	2	2	2	5	1	1	0	5	1	1	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.160C>G	p.Pro54Ala	p.P54A	ENST00000332857	1/4	268	230	38	345	345	0	strelka-varscan-mutect	SPATA31A6,missense_variant,p.Pro54Ala,ENST00000332857,NM_001145196.1;SPATA31A6,upstream_gene_variant,,ENST00000496386,;	G	ENST00000332857	Transcript	missense_variant	189/4209	160/4032	54/1343	P/A	Cca/Gca		1		1	SPATA31A6	HGNC	HGNC:32006	protein_coding	YES	CCDS75837.1	ENSP00000329825	Q5VVP1		UPI0000197F6E	NM_001145196.1	deleterious(0.02)		1/4		hmmpanther:PTHR21859:SF18,hmmpanther:PTHR21859																	MODERATE	1	SNV	5			1										PASS		rs1404098663	.												G	3	3	10	42183847	42183847	C	G	1	0	0	0	0	1	0	0	0	15345	623	22	4		4	SPATA31A6	9	42183847	Missense_Mutation	SNP	C	C3L-00095_TP	4438770	42183847	96210870	408	3789											
RORB	0	.	GRCh38	chr9	74660651	74660651	+	Missense_Mutation	SNP	G	G	C																															aacatcattaagtcccatttGgagacatgtcaatacaccat																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.672G>C	p.Leu224Phe	p.L224F	ENST00000376896	5/10	151	134	17	190	190	0	strelka-varscan-mutect	RORB,missense_variant,p.Leu224Phe,ENST00000376896,NM_006914.3;RORB,missense_variant,p.Leu235Phe,ENST00000396204,;	C	ENST00000376896	Transcript	missense_variant	1284/9551	672/1380	224/459	L/F	ttG/ttC		1		1	RORB	HGNC	HGNC:10259	protein_coding	YES	CCDS6646.1	ENSP00000366093	Q92753	Q58EY0	UPI000015FD94	NM_006914.3	tolerated(0.35)		5/10		Superfamily_domains:SSF48508,Prints_domain:PR01293																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	74660651	74660651	G	C	1	0	0	0	0	1	0	0	0	13706	1339	47	4		4	RORB	9	74660651	Missense_Mutation	SNP	G	C3L-00095_TP	32476804	74660651	63734066	409	3790	85	2									
RORB	0	.	GRCh38	chr9	74660652	74660652	+	Nonsense_Mutation	SNP	G	G	T																															acatcattaagtcccatttgGagacatgtcaatacaccatg																										C3L-00095_TP	C3L-00095_NB	G	G																c.673G>T	p.Glu225Ter	p.E225*	ENST00000376896	5/10	151	135	16	193	193	0	strelka-varscan-mutect	RORB,stop_gained,p.Glu225Ter,ENST00000376896,NM_006914.3;RORB,stop_gained,p.Glu236Ter,ENST00000396204,;	T	ENST00000376896	Transcript	stop_gained	1285/9551	673/1380	225/459	E/*	Gag/Tag	COSM3216921	1		1	RORB	HGNC	HGNC:10259	protein_coding	YES	CCDS6646.1	ENSP00000366093	Q92753	Q58EY0	UPI000015FD94	NM_006914.3			5/10		Superfamily_domains:SSF48508,Prints_domain:PR01293											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	10	74660652	74660652	G	T	1	0	0	0	0	0	1	0	0	13706	1175	41	2		2	RORB	9	74660652	Nonsense_Mutation	SNP	G	C3L-00095_TP	1	74660652	63734065	410	3791	85	2									
RORB	0	.	GRCh38	chr9	74660702	74660702	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagctggcgtggcagacCcacacctatgaagaaattaa	14	6	9	12	1	0	3	0	1	0	2	0	3	0	3	3	2	1	2	3	2	4	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.723C>A	p.=	p.T241T	ENST00000376896	5/10	147	127	20	186	186	0	strelka-varscan-mutect	RORB,synonymous_variant,p.=,ENST00000376896,NM_006914.3;RORB,synonymous_variant,p.=,ENST00000396204,;	A	ENST00000376896	Transcript	synonymous_variant	1335/9551	723/1380	241/459	T	acC/acA		1		1	RORB	HGNC	HGNC:10259	protein_coding	YES	CCDS6646.1	ENSP00000366093	Q92753	Q58EY0	UPI000015FD94	NM_006914.3			5/10		Superfamily_domains:SSF48508																	LOW	1	SNV	1			1										PASS		rs957849516	.												A	2	1	10	74660702	74660702	C	A	1	0	0	0	0	0	0	0	1	13706	610	22	2		2	RORB	9	74660702	Silent	SNP	C	C3L-00095_TP	50	74660702	63734015	411	3792											
TRPM6	0	.	GRCh38	chr9	74786107	74786107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttttgggtaaacttccCaggttctgaaatacagatct	11	13	7	10	0	2	2	0	1	2	1	3	2	3	2	2	2	2	2	2	2	4	6	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2686G>T	p.Gly896Trp	p.G896W	ENST00000360774	21/39	264	240	24	258	258	0	strelka-varscan-mutect	TRPM6,missense_variant,p.Gly896Trp,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Gly891Trp,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Gly891Trp,ENST00000449912,NM_001177310.1;	A	ENST00000360774	Transcript	missense_variant	2924/8425	2686/6069	896/2022	G/W	Ggg/Tgg		1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4	deleterious(0)		21/39		Pfam_domain:PF00520,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	74786107	74786107	C	A	1	0	0	0	0	1	0	0	0	17096	594	21	2		2	TRPM6	9	74786107	Missense_Mutation	SNP	C	C3L-00095_TP	125405	74786107	63608610	412	3793											
TRPM6	0	.	GRCh38	chr9	74840035	74840035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagctttacctgtattgatgCcttcagttattatccacgct	8	16	7	10	1	1	1	1	1	0	0	2	2	2	1	3	0	3	4	3	0	4	7			C3L-00095_TP	C3L-00095_NB	C	C																c.533G>T	p.Gly178Val	p.G178V	ENST00000360774	5/39	247	231	16	338	336	2	strelka-varscan-mutect	TRPM6,missense_variant,p.Gly178Val,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Gly173Val,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Gly173Val,ENST00000449912,NM_001177310.1;TRPM6,missense_variant,p.Gly178Val,ENST00000359047,;	A	ENST00000360774	Transcript	missense_variant	771/8425	533/6069	178/2022	G/V	gGc/gTc	COSM3908005,COSM3908006,COSM3908007,COSM3908008	1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4	deleterious(0)		5/39		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												A	3	1	10	74840035	74840035	C	A	1	0	0	0	0	1	0	0	0	17096	739	26	2		2	TRPM6	9	74840035	Missense_Mutation	SNP	C	C3L-00095_TP	53928	74840035	63554682	413	3794											
SPATA31E1	0	.	GRCh38	chr9	87885151	87885151	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactcaaccctgagtgccTccgggccaccagagcccttg	8	6	9	18	1	1	2	1	1	0	1	2	2	2	2	6	1	3	0	6	1	1	1	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.664T>A	p.Ser222Thr	p.S222T	ENST00000325643	4/4	145	124	21	208	207	1	strelka-varscan-mutect	SPATA31E1,missense_variant,p.Ser222Thr,ENST00000325643,NM_178828.4;	A	ENST00000325643	Transcript	missense_variant	730/4478	664/4338	222/1445	S/T	Tcc/Acc		1		1	SPATA31E1	HGNC	HGNC:26672	protein_coding	YES	CCDS6676.1	ENSP00000322640	Q6ZUB1		UPI000036764A	NM_178828.4	tolerated(0.3)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	87885151	87885151	T	A	1	0	0	0	0	1	0	0	0	15350	1551	54	4		4	SPATA31E1	9	87885151	Missense_Mutation	SNP	T	C3L-00095_TP	13045116	87885151	50509566	414	3795											
PTPN3	0	.	GRCh38	chr9	109379591	109379591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttggactaaaccttcttCatacacacgaagaatcgctt	13	12	5	11	2	2	1	1	0	1	1	3	3	2	2	1	1	2	1	1	1	5	6	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2707G>A	p.Glu903Lys	p.E903K	ENST00000374541	26/26	139	126	13	194	194	0	strelka-mutect	PTPN3,missense_variant,p.Glu772Lys,ENST00000412145,NM_001145369.1;PTPN3,missense_variant,p.Glu727Lys,ENST00000446349,NM_001145370.1;PTPN3,missense_variant,p.Glu903Lys,ENST00000374541,NM_001145368.1,NM_002829.3;PTPN3,3_prime_UTR_variant,,ENST00000262539,;PTPN3,upstream_gene_variant,,ENST00000447271,;	T	ENST00000374541	Transcript	missense_variant	2812/6703	2707/2742	903/913	E/K	Gaa/Aaa		1		-1	PTPN3	HGNC	HGNC:9655	protein_coding	YES	CCDS6776.1	ENSP00000363667	P26045		UPI000013D2D2	NM_001145368.1,NM_002829.3	tolerated(0.74)		26/26		Gene3D:3.90.190.10,PIRSF_domain:PIRSF000927,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF309,SMART_domains:SM00194,Superfamily_domains:SSF52799																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	109379591	109379591	C	T	1	0	0	0	0	1	0	0	0	12943	835	29	3		3	PTPN3	9	109379591	Missense_Mutation	SNP	C	C3L-00095_TP	21494440	109379591	29015126	415	3796											
KIAA0368	0	.	GRCh38	chr9	111374039	111374039	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacactggcacagccaccCtacagggttacaaaagcaaa	16	5	8	12	0	0	1	0	1	0	0	0	1	0	1	2	2	4	3	2	2	5	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.4645-1G>T		p.X1549_splice	ENST00000259335		139	129	10	167	167	0	strelka-varscan-mutect	KIAA0368,splice_acceptor_variant,,ENST00000259335,NM_001080398.1;KIAA0368,splice_acceptor_variant,,ENST00000338205,;KIAA0368,upstream_gene_variant,,ENST00000374383,;KIAA0368,upstream_gene_variant,,ENST00000465499,;	A	ENST00000259335	Transcript	splice_acceptor_variant	-/7391	4645/6054	1549/2017				1		-1	KIAA0368	HGNC	HGNC:29020	protein_coding	YES	CCDS48006.1	ENSP00000259335		J3KN16	UPI0000DD7F7A	NM_001080398.1				39/50																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	10	111374039	111374039	C	A	1	0	0	0	0	0	0	1	0	8083	695	24	2		2	KIAA0368	9	111374039	Splice_Site	SNP	C	C3L-00095_TP	1994448	111374039	27020678	416	3797											
CNTRL	0	.	GRCh38	chr9	121096527	121096527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagaagttaaaatctttGcgagtcctcaatttgaaagg	14	11	11	5	1	2	2	1	1	1	1	3	4	3	3	1	2	1	1	1	2	6	3	rs767370614		C3L-00095_TP	C3L-00095_NB	G	G																c.585G>T	p.Leu195Phe	p.L195F	ENST00000373855	6/44	93	84	9	69	69	0	strelka-varscan-mutect	CNTRL,missense_variant,p.Leu195Phe,ENST00000373855,;CNTRL,missense_variant,p.Leu195Phe,ENST00000238341,NM_007018.4;CNTRL,missense_variant,p.Leu195Phe,ENST00000373865,;	T	ENST00000373855	Transcript	missense_variant	845/7660	585/6978	195/2325	L/F	ttG/ttT	rs767370614	1		1	CNTRL	HGNC	HGNC:1858	protein_coding	YES	CCDS35118.1	ENSP00000362962	Q7Z7A1		UPI0000211718		deleterious(0)		6/44		Gene3D:3.80.10.10,Pfam_domain:PF14580,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF273,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	5			1										PASS		rs767370614	.												T	3	4	10	121096527	121096527	G	T	1	0	0	0	0	1	0	0	0	3433	1310	46	2		2	CNTRL	9	121096527	Missense_Mutation	SNP	G	C3L-00095_TP	9722488	121096527	17298190	417	3798											
WDR38	0	.	GRCh38	chr9	124856737	124856737	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgctgtccaggcatcCggctcctgggacaagaccat	7	9	11	14	1	1	1	0	0	1	1	4	2	4	2	4	3	1	3	4	3	1	0	rs375509008		C3L-00095_TP	C3L-00095_NB	C	C																c.624C>A	p.=	p.S208S	ENST00000613760	7/9	146	126	20	177	177	0	strelka-varscan-mutect	WDR38,synonymous_variant,p.=,ENST00000613760,NM_001276375.1,NM_001276374.1;WDR38,synonymous_variant,p.=,ENST00000618744,NM_001276376.1;WDR38,synonymous_variant,p.=,ENST00000373574,NM_001045476.2;RPL35,downstream_gene_variant,,ENST00000373570,;RPL35,downstream_gene_variant,,ENST00000348462,NM_007209.3;RPL35,downstream_gene_variant,,ENST00000629845,;RPL35,downstream_gene_variant,,ENST00000487431,;RPL35,downstream_gene_variant,,ENST00000493018,;RPL35,downstream_gene_variant,,ENST00000495728,;	A	ENST00000613760	Transcript	synonymous_variant	739/1323	624/948	208/315	S	tcC/tcA	rs375509008,COSM1105101	1		1	WDR38	HGNC	HGNC:23745	protein_coding	YES	CCDS75898.1	ENSP00000483312		A0A087X0D8	UPI00006C0F22	NM_001276375.1,NM_001276374.1			7/9		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978											0,1						LOW	1	SNV	1		0,1	1										PASS		rs375509008	.												A	2	1	10	124856737	124856737	C	A	1	0	0	0	0	0	0	0	1	17852	666	23	1		1	WDR38	9	124856737	Silent	SNP	C	C3L-00095_TP	3760210	124856737	13537980	418	3799											
SET	0	.	GRCh38	chr9	128692670	128692670	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctggcctagtgtctgcaCtgcttggggaggaagatgaa	8	12	14	7	0	2	2	0	1	2	1	2	4	2	4	1	4	2	2	1	4	3	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.322C>T	p.=	p.L108L	ENST00000372692	4/8	174	151	23	219	219	0	strelka-varscan-mutect	SET,synonymous_variant,p.=,ENST00000322030,NM_003011.3;SET,synonymous_variant,p.=,ENST00000372692,NM_001122821.1;SET,synonymous_variant,p.=,ENST00000372686,;SET,synonymous_variant,p.=,ENST00000409104,NM_001248000.1;SET,synonymous_variant,p.=,ENST00000372688,NM_001248001.1;SET,non_coding_transcript_exon_variant,,ENST00000477806,;SET,non_coding_transcript_exon_variant,,ENST00000480217,;SET,downstream_gene_variant,,ENST00000466009,;SET,non_coding_transcript_exon_variant,,ENST00000485056,;SET,non_coding_transcript_exon_variant,,ENST00000480536,;	T	ENST00000372692	Transcript	synonymous_variant	563/2850	322/873	108/290	L	Ctg/Ttg		1		1	SET	HGNC	HGNC:10760	protein_coding	YES	CCDS48037.1	ENSP00000361777	Q01105	Q5VXV3	UPI000006D7FF	NM_001122821.1			4/8		hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF74,Pfam_domain:PF00956,Superfamily_domains:SSF143113																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	128692670	128692670	C	T	1	0	0	0	0	0	0	0	1	14405	564	20	3		3	SET	9	128692670	Silent	SNP	C	C3L-00095_TP	3835933	128692670	9702047	419	3800											
LAMC3	0	.	GRCh38	chr9	131036287	131036287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcccttcttccaggacCgcccgtgggcccggggcacc	3	6	13	19	3	1	0	0	0	1	0	2	1	2	1	7	4	1	1	7	4	0	2	rs761933914		C3L-00095_TP	C3L-00095_NB	C	C																c.931C>G	p.Arg311Gly	p.R311G	ENST00000361069	4/28	346	308	38	413	413	0	strelka-varscan-mutect	LAMC3,missense_variant,p.Arg311Gly,ENST00000361069,NM_006059.3;LAMC3,non_coding_transcript_exon_variant,,ENST00000480883,;	G	ENST00000361069	Transcript	missense_variant	1064/6133	931/4728	311/1575	R/G	Cgc/Ggc	rs761933914,COSM1330686	1		1	LAMC3	HGNC	HGNC:6494	protein_coding	YES	CCDS6938.1	ENSP00000354360	Q9Y6N6		UPI000013D6D3	NM_006059.3	deleterious(0)		4/28		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,SMART_domains:SM00180,Superfamily_domains:SSF57196											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs761933914	.												G	3	3	10	131036287	131036287	C	G	1	0	0	0	0	1	0	0	0	8520	652	23	4		4	LAMC3	9	131036287	Missense_Mutation	SNP	C	C3L-00095_TP	2343617	131036287	7358430	420	3801											
NTNG2	0	.	GRCh38	chr9	132239248	132239248	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaacggctcggcagagcTggatgatgagaacgtctgca	10	6	14	11	4	1	3	0	2	1	2	2	5	1	4	1	3	4	5	1	3	2	0	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.1199T>A	p.Leu400Gln	p.L400Q	ENST00000393229	6/8	359	318	41	432	431	1	strelka-varscan-mutect	NTNG2,missense_variant,p.Leu400Gln,ENST00000393229,NM_032536.2;NTNG2,upstream_gene_variant,,ENST00000490694,;NTNG2,upstream_gene_variant,,ENST00000483055,;	A	ENST00000393229	Transcript	missense_variant	1975/4792	1199/1593	400/530	L/Q	cTg/cAg		1		1	NTNG2	HGNC	HGNC:14288	protein_coding	YES	CCDS6946.1	ENSP00000376921	Q96CW9		UPI0000367698	NM_032536.2	deleterious(0.01)		6/8		Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,SMART_domains:SM00180,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	132239248	132239248	T	A	1	0	0	0	0	1	0	0	0	10770	1580	55	4		4	NTNG2	9	132239248	Missense_Mutation	SNP	T	C3L-00095_TP	1202961	132239248	6155469	421	3802											
SETX	0	.	GRCh38	chr9	132334618	132334618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtttattaccatctgcttcCctctccatagtgtgaagtat	9	16	6	10	0	2	1	0	1	2	0	4	1	3	1	3	0	2	3	3	0	5	6	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.828G>T	p.Arg276Ser	p.R276S	ENST00000224140	7/26	390	360	30	361	359	2	strelka-varscan-mutect	SETX,missense_variant,p.Arg276Ser,ENST00000224140,NM_015046.5;	A	ENST00000224140	Transcript	missense_variant	1011/11100	828/8034	276/2677	R/S	agG/agT		1		-1	SETX	HGNC	HGNC:445	protein_coding	YES	CCDS6947.1	ENSP00000224140	Q7Z333		UPI0000210D28	NM_015046.5	deleterious(0)		7/26		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF377																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	132334618	132334618	C	A	1	0	0	0	0	1	0	0	0	14420	622	22	2		2	SETX	9	132334618	Missense_Mutation	SNP	C	C3L-00095_TP	95370	132334618	6060099	422	3803											
VAV2	0	.	GRCh38	chr9	133768570	133768570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagttatacctggccacagCtgtgccgatgacgcggggcg	9	7	14	11	4	0	1	0	1	0	0	0	2	0	1	3	3	3	2	3	3	3	2			C3L-00095_TP	C3L-00095_NB	C	C																c.2461G>T	p.Ala821Ser	p.A821S	ENST00000371850	29/30	112	103	9	131	131	0	strelka-varscan-mutect	VAV2,missense_variant,p.Ala811Ser,ENST00000371851,;VAV2,missense_variant,p.Ala821Ser,ENST00000371850,NM_001134398.1;VAV2,missense_variant,p.Ala782Ser,ENST00000406606,NM_003371.3;	A	ENST00000371850	Transcript	missense_variant	2493/4837	2461/2637	821/878	A/S	Gct/Tct	COSM204605,COSM5123577	1		-1	VAV2	HGNC	HGNC:12658	protein_coding	YES	CCDS48053.1	ENSP00000360916	P52735		UPI000013E06E	NM_001134398.1	deleterious(0)		29/30		Gene3D:2.30.30.40,Prints_domain:PR00452,PROSITE_profiles:PS50002,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF95,SMART_domains:SM00326,Superfamily_domains:SSF50044											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	10	133768570	133768570	C	A	1	0	0	0	0	1	0	0	0	17677	797	28	2		2	VAV2	9	133768570	Missense_Mutation	SNP	C	C3L-00095_TP	1433952	133768570	4626147	423	3804											
OLFM1	0	.	GRCh38	chr9	135077046	135077046	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgatcagccagtccctcctgGagaggttctgcatggcctct	6	10	11	14	1	3	1	1	0	2	1	5	3	5	1	4	3	2	2	4	3	0	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.331G>T	p.Glu111Ter	p.E111*	ENST00000371799	2/2	118	103	15	143	143	0	strelka-varscan-mutect	OLFM1,stop_gained,p.Glu111Ter,ENST00000371799,;OLFM1,intron_variant,,ENST00000252854,NM_014279.4;OLFM1,intron_variant,,ENST00000277415,NM_006334.3;OLFM1,downstream_gene_variant,,ENST00000371801,;	T	ENST00000371799	Transcript	stop_gained	616/961	331/504	111/167	E/*	Gag/Tag		1		1	OLFM1	HGNC	HGNC:17187	protein_coding			ENSP00000360864		Q6IMJ6	UPI00003B288C				2/2																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	10	135077046	135077046	G	T	1	0	0	0	0	0	1	0	0	10927	1175	41	2		2	OLFM1	9	135077046	Nonsense_Mutation	SNP	G	C3L-00095_TP	1308476	135077046	3317671	424	3805											
MCM10	0	.	GRCh38	chr10	13172468	13172468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcaagcccagcccgtctgCaaaaatcccctggtaagaag	13	5	9	14	1	1	1	0	0	1	1	2	1	2	1	4	1	4	3	4	1	5	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.442C>G	p.Gln148Glu	p.Q148E	ENST00000484800	4/20	186	173	13	225	225	0	strelka-varscan-mutect	MCM10,missense_variant,p.Gln148Glu,ENST00000378694,;MCM10,missense_variant,p.Gln148Glu,ENST00000378714,NM_018518.4;MCM10,missense_variant,p.Gln148Glu,ENST00000484800,NM_182751.2;MCM10,missense_variant,p.Gln68Glu,ENST00000479669,;	G	ENST00000484800	Transcript	missense_variant	545/3157	442/2628	148/875	Q/E	Caa/Gaa		1		1	MCM10	HGNC	HGNC:18043	protein_coding	YES	CCDS7096.1	ENSP00000418268	Q7L590		UPI000013C5E2	NM_182751.2	tolerated(0.75)		4/20		hmmpanther:PTHR13454																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	13172468	13172468	C	G	1	0	0	0	0	1	0	0	0	9317	711	25	4		4	MCM10	10	13172468	Missense_Mutation	SNP	C	C3L-00095_TP		13172468	120624954	425	3806											
SEPHS1	0	.	GRCh38	chr10	13333914	13333914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgttacagatgttcctgCttcctcagctgcgtctttaa	6	15	8	12	1	2	1	1	0	1	1	4	1	4	1	3	0	4	4	3	0	2	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.463G>T	p.Ala155Ser	p.A155S	ENST00000327347	5/9	215	201	14	261	261	0	strelka-varscan-mutect	SEPHS1,missense_variant,p.Ala155Ser,ENST00000327347,NM_012247.4;SEPHS1,missense_variant,p.Ala88Ser,ENST00000545675,NM_001195602.1;SEPHS1,missense_variant,p.Ala155Ser,ENST00000378614,NM_001195604.1;SEPHS1,missense_variant,p.Ala155Ser,ENST00000413411,;SEPHS1,missense_variant,p.Ala88Ser,ENST00000425947,;SEPHS1,downstream_gene_variant,,ENST00000494329,;	A	ENST00000327347	Transcript	missense_variant	839/3273	463/1179	155/392	A/S	Gca/Tca		1		-1	SEPHS1	HGNC	HGNC:19685	protein_coding	YES	CCDS7098.1	ENSP00000367893	P49903		UPI0000135E82	NM_012247.4	deleterious(0.03)		5/9		Gene3D:3.30.1330.10,Pfam_domain:PF00586,PIRSF_domain:PIRSF036407,hmmpanther:PTHR10256,hmmpanther:PTHR10256:SF2,Superfamily_domains:SSF55326,TIGRFAM_domain:TIGR00476																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	13333914	13333914	C	A	1	0	0	0	0	1	0	0	0	14330	797	28	2		2	SEPHS1	10	13333914	Missense_Mutation	SNP	C	C3L-00095_TP	161446	13333914	120463508	426	3807											
VIM	0	.	GRCh38	chr10	17233858	17233858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctcacggctgccctgcGtgacgtacgtcagcaatatg	8	9	11	13	4	2	2	2	2	0	0	2	2	2	2	2	1	4	3	2	1	3	2			C3L-00095_TP	C3L-00095_NB	G	G																c.809G>T	p.Arg270Leu	p.R270L	ENST00000544301	5/10	324	292	32	449	448	1	strelka-varscan-mutect	VIM,missense_variant,p.Arg270Leu,ENST00000544301,NM_003380.3;VIM,missense_variant,p.Arg270Leu,ENST00000224237,;VIM,missense_variant,p.Arg96Leu,ENST00000421459,;VIM,downstream_gene_variant,,ENST00000478317,;VIM,downstream_gene_variant,,ENST00000478746,;VIM,downstream_gene_variant,,ENST00000497849,;RP11-124N14.3,non_coding_transcript_exon_variant,,ENST00000456355,;VIM-AS1,upstream_gene_variant,,ENST00000605833,;VIM,non_coding_transcript_exon_variant,,ENST00000495528,;VIM,non_coding_transcript_exon_variant,,ENST00000637053,;VIM,downstream_gene_variant,,ENST00000485947,;VIM,missense_variant,p.Arg88Leu,ENST00000469543,;VIM,missense_variant,p.Arg270Leu,ENST00000487938,;	T	ENST00000544301	Transcript	missense_variant	1222/2128	809/1401	270/466	R/L	cGt/cTt	COSM4013120,COSM4013121	1		1	VIM	HGNC	HGNC:12692	protein_coding	YES	CCDS7120.1	ENSP00000446007	P08670	V9HWE1	UPI00000012EB	NM_003380.3	deleterious(0)		5/10		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF27,Pfam_domain:PF00038,SMART_domains:SM01391											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1452626097	.												T	3	4	10	17233858	17233858	G	T	1	0	0	0	0	1	0	0	0	17712	1145	40	1		1	VIM	10	17233858	Missense_Mutation	SNP	G	C3L-00095_TP	3899944	17233858	116563564	427	3808											
NEBL	0	.	GRCh38	chr10	20850413	20850413	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcactttgcatcttttgAgcctcctttgaagcttgata	8	17	6	10	0	2	3	1	3	1	0	3	3	3	3	2	0	3	2	2	0	2	7	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.1098T>C	p.=	p.A366A	ENST00000377122	11/28	263	242	21	239	239	0	strelka-varscan-mutect	NEBL,synonymous_variant,p.=,ENST00000377122,NM_006393.2;NEBL,intron_variant,,ENST00000417816,NM_213569.2,NM_001173484.1;NEBL,upstream_gene_variant,,ENST00000482754,;	G	ENST00000377122	Transcript	synonymous_variant	1495/9216	1098/3045	366/1014	A	gcT/gcC		1		-1	NEBL	HGNC	HGNC:16932	protein_coding	YES	CCDS7134.1	ENSP00000366326	O76041		UPI000012FEE8	NM_006393.2			11/28		PROSITE_profiles:PS51216,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	10	20850413	20850413	A	G	1	0	0	0	0	0	0	0	1	10327	291	11	5		5	NEBL	10	20850413	Silent	SNP	A	C3L-00095_TP	3616555	20850413	112947009	428	3809											
NEBL	0	.	GRCh38	chr10	20858258	20858258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgccgctgagcattttgctGgctttcaaaacatggtctaa	10	12	9	10	2	2	1	1	1	1	0	2	1	2	1	1	2	3	4	1	2	3	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.885C>T	p.=	p.A295A	ENST00000377122	9/28	370	335	35	447	447	0	strelka-varscan-mutect	NEBL,synonymous_variant,p.=,ENST00000377122,NM_006393.2;NEBL,intron_variant,,ENST00000417816,NM_213569.2,NM_001173484.1;	A	ENST00000377122	Transcript	synonymous_variant	1282/9216	885/3045	295/1014	A	gcC/gcT		1		-1	NEBL	HGNC	HGNC:16932	protein_coding	YES	CCDS7134.1	ENSP00000366326	O76041		UPI000012FEE8	NM_006393.2			9/28		PROSITE_profiles:PS51216,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	20858258	20858258	G	A	1	0	0	0	0	0	0	0	1	10327	1335	47	3		3	NEBL	10	20858258	Silent	SNP	G	C3L-00095_TP	7845	20858258	112939164	429	3810											
ARMC3	0	.	GRCh38	chr10	23032861	23032861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcaatgtaattgacacagGtatgtagcagaaaaaatggg	16	10	10	5	0	1	2	1	1	1	1	2	2	1	2	0	2	1	4	0	2	7	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2247G>T	p.Lys749Asn	p.K749N	ENST00000298032	18/19	119	112	7	109	109	0	strelka-varscan-mutect	ARMC3,missense_variant,p.Lys486Asn,ENST00000376528,NM_001282747.1;ARMC3,missense_variant,p.Lys749Asn,ENST00000298032,NM_173081.4;ARMC3,missense_variant,p.Lys742Asn,ENST00000409983,NM_001282745.1;ARMC3,downstream_gene_variant,,ENST00000473919,;	T	ENST00000298032	Transcript	missense_variant,splice_region_variant	2331/2811	2247/2619	749/872	K/N	aaG/aaT		1		1	ARMC3	HGNC	HGNC:30964	protein_coding	YES	CCDS7142.1	ENSP00000298032	Q5W041		UPI0000161785	NM_173081.4	deleterious(0.04)		18/19		hmmpanther:PTHR23315:SF78,hmmpanther:PTHR23315,Pfam_domain:PF14381																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	23032861	23032861	G	T	1	0	0	0	0	1	0	0	0	1093	1275	44	2		2	ARMC3	10	23032861	Missense_Mutation	SNP	G	C3L-00095_TP	2174603	23032861	110764561	430	3811											
GPR158	0	.	GRCh38	chr10	25598218	25598218	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaaaaactaaaagaagaCagcgaggctgagtccacgga	19	3	10	9	2	0	3	0	1	0	2	1	5	1	4	1	2	2	1	1	2	5	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2592C>T	p.=	p.D864D	ENST00000376351	11/11	251	236	15	337	337	0	strelka-varscan-mutect	GPR158,synonymous_variant,p.=,ENST00000376351,NM_020752.2;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	T	ENST00000376351	Transcript	synonymous_variant	2951/6959	2592/3648	864/1215	D	gaC/gaT		1		1	GPR158	HGNC	HGNC:23689	protein_coding	YES	CCDS31166.1	ENSP00000365529	Q5T848		UPI0000199875	NM_020752.2			11/11		hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	25598218	25598218	C	T	1	0	0	0	0	0	0	0	1	6549	477	17	3		3	GPR158	10	25598218	Silent	SNP	C	C3L-00095_TP	2565357	25598218	108199204	431	3812											
ARMC4	0	.	GRCh38	chr10	27907701	27907701	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggacagagtgcccatgctgCgctggccttcacgtctgggt	5	10	14	12	2	2	1	1	0	1	1	2	2	2	2	2	3	3	2	2	3	0	1	rs200363248		C3L-00095_TP	C3L-00095_NB	C	C																c.2572G>C	p.Ala858Pro	p.A858P	ENST00000305242	17/20	276	259	17	282	282	0	strelka-varscan-mutect	ARMC4,missense_variant,p.Ala858Pro,ENST00000305242,NM_018076.3,NM_001290020.1;RPL36AP55,downstream_gene_variant,,ENST00000454114,;	G	ENST00000305242	Transcript	missense_variant	2665/3572	2572/3135	858/1044	A/P	Gca/Cca	rs200363248	1		-1	ARMC4	HGNC	HGNC:25583	protein_coding	YES	CCDS7157.1	ENSP00000306410	Q5T2S8	A0A140VKF7	UPI00001A95E1	NM_018076.3,NM_001290020.1	deleterious(0)		17/20		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF44,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	2			1										PASS		rs200363248	.												G	3	3	10	27907701	27907701	C	G	1	0	0	0	0	1	0	0	0	1094	768	27	4		4	ARMC4	10	27907701	Missense_Mutation	SNP	C	C3L-00095_TP	2309483	27907701	105889721	432	3813											
SVIL	0	.	GRCh38	chr10	29524505	29524505	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagtgtgactggctgagtTtgatagcgagcgttcattct	7	13	12	9	2	2	3	1	3	1	0	2	4	2	3	1	1	2	3	1	1	1	4	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.2553A>T	p.Gln851His	p.Q851H	ENST00000355867	14/38	259	231	28	275	275	0	strelka-varscan-mutect	SVIL,missense_variant,p.Gln819His,ENST00000375398,;SVIL,missense_variant,p.Gln851His,ENST00000355867,NM_021738.2;SVIL,missense_variant,p.Gln425His,ENST00000375400,NM_003174.3;SVIL,upstream_gene_variant,,ENST00000632315,;SVIL,upstream_gene_variant,,ENST00000464984,;	A	ENST00000355867	Transcript	missense_variant	3306/7586	2553/6645	851/2214	Q/H	caA/caT		1		-1	SVIL	HGNC	HGNC:11480	protein_coding	YES	CCDS7164.1	ENSP00000348128	O95425		UPI0000366678	NM_021738.2	deleterious(0)		14/38		hmmpanther:PTHR11977:SF45,hmmpanther:PTHR11977																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	29524505	29524505	T	A	1	0	0	0	0	1	0	0	0	15806	1838	64	4		4	SVIL	10	29524505	Missense_Mutation	SNP	T	C3L-00095_TP	1616804	29524505	104272917	433	3814											
ZEB1	0	.	GRCh38	chr10	31526783	31526783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctatcaatgtgacaaatGtggaaagcgcttctcacact	12	10	8	11	1	2	1	2	1	1	0	3	2	2	2	1	1	1	1	1	1	4	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2897G>A	p.Cys966Tyr	p.C966Y	ENST00000361642	9/9	490	460	30	508	508	0	strelka-varscan-mutect	ZEB1,missense_variant,p.Cys949Tyr,ENST00000446923,NM_001323656.1,NM_001323664.1,NM_001323657.1,NM_001323650.1,NM_001128128.2,NM_001174094.1;ZEB1,missense_variant,p.Cys966Tyr,ENST00000361642,NM_001174096.1;ZEB1,missense_variant,p.Cys965Tyr,ENST00000320985,NM_030751.5;ZEB1,missense_variant,p.Cys945Tyr,ENST00000560721,NM_001174093.1;ZEB1,missense_variant,p.Cys898Tyr,ENST00000542815,NM_001174095.1;ZEB1,downstream_gene_variant,,ENST00000559858,;ZEB1,3_prime_UTR_variant,,ENST00000437844,NM_001323663.1,NM_001323661.1,NM_001323644.1,NM_001323649.1,NM_001323659.1,NM_001323652.1,NM_001323673.1,NM_001323662.1,NM_001323676.1,NM_001323653.1,NM_001323655.1,NM_001323645.1,NM_001323647.1,NM_001323660.1,NM_001323671.1,NM_001323638.1,NM_001323665.1,NM_001323643.1,NM_001323677.1,NM_001323641.1,NM_001323642.1,NM_001323658.1,NM_001323651.1,NM_001323672.1,NM_001323654.1;ZEB1,non_coding_transcript_exon_variant,,ENST00000488625,;ZEB1,non_coding_transcript_exon_variant,,ENST00000542879,;ZEB1,downstream_gene_variant,,ENST00000558655,;	A	ENST00000361642	Transcript	missense_variant	2960/5990	2897/3378	966/1125	C/Y	tGt/tAt		1		1	ZEB1	HGNC	HGNC:11642	protein_coding	YES	CCDS53505.1	ENSP00000354487	P37275		UPI000068F51D	NM_001174096.1	deleterious(0)		9/9		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24391,hmmpanther:PTHR24391:SF17,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	31526783	31526783	G	A	1	0	0	0	0	1	0	0	0	18199	1377	48	3		3	ZEB1	10	31526783	Missense_Mutation	SNP	G	C3L-00095_TP	2002278	31526783	102270639	434	3815											
ALOX5	0	.	GRCh38	chr10	45382494	45382494	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcccaggtggattcataCgacgtgactgtggacgagga	9	9	13	10	3	1	1	1	1	0	0	2	6	2	4	2	4	1	0	2	4	1	3	rs764154625		C3L-00095_TP	C3L-00095_NB	C	C																c.162C>A	p.Tyr54Ter	p.Y54*	ENST00000374391	2/14	282	262	20	353	352	1	strelka-varscan-mutect	ALOX5,stop_gained,p.Tyr54Ter,ENST00000374391,NM_001256153.1,NM_000698.3;ALOX5,stop_gained,p.Tyr54Ter,ENST00000542434,NM_001256154.1;ALOX5,stop_gained,p.Tyr54Ter,ENST00000612635,;	A	ENST00000374391	Transcript	stop_gained	215/2506	162/2025	54/674	Y/*	taC/taA	rs764154625,COSM189215	1		1	ALOX5	HGNC	HGNC:435	protein_coding	YES	CCDS7212.1	ENSP00000363512	P09917		UPI0000043F84	NM_001256153.1,NM_000698.3			2/14		PROSITE_profiles:PS50095,hmmpanther:PTHR11771:SF5,hmmpanther:PTHR11771,Pfam_domain:PF01477,Gene3D:2.60.60.20,SMART_domains:SM00308,Superfamily_domains:SSF49723											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs764154625	.												A	4	1	10	45382494	45382494	C	A	1	0	0	0	0	0	1	0	0	640	547	19	1		1	ALOX5	10	45382494	Nonsense_Mutation	SNP	C	C3L-00095_TP	13855711	45382494	88414928	435	3816											
ANXA8L1	0	.	GRCh38	chr10	46384816	46384816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctttgtggacccggcactgGccctccaagacgcacaggtg	7	7	13	14	2	0	1	0	0	0	1	1	2	1	2	3	4	0	3	3	4	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.535G>T	p.Ala179Ser	p.A179S	ENST00000619162	7/12	440	414	26	562	562	0	varscan-mutect	ANXA8L1,missense_variant,p.Ala217Ser,ENST00000584982,;ANXA8L1,missense_variant,p.Ala117Ser,ENST00000613703,;ANXA8L1,missense_variant,p.Ala160Ser,ENST00000622769,NM_001278924.1;ANXA8L1,missense_variant,p.Ala122Ser,ENST00000611655,NM_001278923.1;ANXA8L1,missense_variant,p.Ala179Ser,ENST00000619162,NM_001098845.2;ANXA8L1,intron_variant,,ENST00000616785,;CH17-335B8.4,downstream_gene_variant,,ENST00000623463,;ANXA8L1,downstream_gene_variant,,ENST00000620353,;	T	ENST00000619162	Transcript	missense_variant	660/1109	535/984	179/327	A/S	Gcc/Tcc		1		1	ANXA8L1	HGNC	HGNC:23334	protein_coding	YES	CCDS73098.1	ENSP00000480221	Q5VT79		UPI000002BA02	NM_001098845.2	deleterious(0)		7/12		Low_complexity_(Seg):seg,hmmpanther:PTHR10502,Gene3D:1.10.220.10,Superfamily_domains:SSF47874,Prints_domain:PR01808																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	46384816	46384816	G	T	1	0	0	0	0	1	0	0	0	833	1203	42	2		2	ANXA8L1	10	46384816	Missense_Mutation	SNP	G	C3L-00095_TP	1002322	46384816	87412606	436	3817											
ARHGAP22	0	.	GRCh38	chr10	48479642	48479642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctacgggcagtacctccgcCcagcggggcccagatgactc	7	6	12	16	3	1	2	0	1	1	1	3	2	2	2	4	3	3	2	4	3	2	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.445G>T	p.Gly149Cys	p.G149C	ENST00000417912	4/10	186	176	10	240	240	0	strelka-varscan-mutect	ARHGAP22,missense_variant,p.Gly149Cys,ENST00000249601,NM_021226.3;ARHGAP22,missense_variant,p.Gly155Cys,ENST00000435790,NM_001256025.2;ARHGAP22,missense_variant,p.Gly24Cys,ENST00000374172,;ARHGAP22,missense_variant,p.Gly149Cys,ENST00000417912,NM_001256024.1;ARHGAP22,missense_variant,p.Gly59Cys,ENST00000417247,NM_001256026.1;ARHGAP22,missense_variant,p.Gly59Cys,ENST00000374170,;ARHGAP22,intron_variant,,ENST00000471013,;ARHGAP22,upstream_gene_variant,,ENST00000515523,;ARHGAP22,missense_variant,p.Gly155Cys,ENST00000460425,;	A	ENST00000417912	Transcript	missense_variant	601/2352	445/2145	149/714	G/C	Ggc/Tgc		1		-1	ARHGAP22	HGNC	HGNC:30320	protein_coding	YES	CCDS58080.1	ENSP00000412461	Q7Z5H3		UPI0000E5BE9D	NM_001256024.1	deleterious(0)		4/10		Gene3D:2.30.29.30,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	48479642	48479642	C	A	1	0	0	0	0	1	0	0	0	996	623	22	2		2	ARHGAP22	10	48479642	Missense_Mutation	SNP	C	C3L-00095_TP	2094826	48479642	85317780	437	3818											
PCDH15	0	.	GRCh38	chr10	53822215	53822215	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttatacagacacactctgtGgacagaaatgaagctgaagg	15	8	11	7	0	1	4	0	2	1	2	1	5	1	5	0	2	2	2	0	2	5	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.5532C>A	p.=	p.S1844S	ENST00000373957	35/35	347	316	31	468	466	2	strelka-varscan-mutect	PCDH15,synonymous_variant,p.=,ENST00000617051,;PCDH15,synonymous_variant,p.=,ENST00000373957,NM_001142763.1;PCDH15,synonymous_variant,p.=,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,synonymous_variant,p.=,ENST00000395430,NM_001142766.1;PCDH15,synonymous_variant,p.=,ENST00000395433,NM_001142773.1;PCDH15,synonymous_variant,p.=,ENST00000395432,NM_001142767.1;PCDH15,synonymous_variant,p.=,ENST00000320301,NM_033056.3;PCDH15,synonymous_variant,p.=,ENST00000622048,;PCDH15,synonymous_variant,p.=,ENST00000437009,NM_001142765.1;PCDH15,intron_variant,,ENST00000614895,;PCDH15,intron_variant,,ENST00000373965,NM_001142772.1;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000617271,NM_001142770.1;PCDH15,intron_variant,,ENST00000613657,NM_001142769.1;PCDH15,intron_variant,,ENST00000395445,;PCDH15,intron_variant,,ENST00000616114,;PCDH15,intron_variant,,ENST00000395438,;PCDH15,intron_variant,,ENST00000612394,;PCDH15,intron_variant,,ENST00000621708,NM_001142771.1;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,intron_variant,,ENST00000618301,;PCDH15,non_coding_transcript_exon_variant,,ENST00000463095,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;PCDH15,upstream_gene_variant,,ENST00000476074,;	T	ENST00000373957	Transcript	synonymous_variant	5927/7032	5532/5889	1844/1962	S	tcC/tcA		1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1			35/35		Low_complexity_(Seg):seg,hmmpanther:PTHR24028:SF11,hmmpanther:PTHR24028																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	10	53822215	53822215	G	T	1	0	0	0	0	0	0	0	1	11598	1335	47	2		2	PCDH15	10	53822215	Silent	SNP	G	C3L-00095_TP	5342573	53822215	79975207	438	3819											
PCDH15	0	.	GRCh38	chr10	53961828	53961828	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcttcttccacttcaaaaAtactggcagggtaaggaaac	15	10	7	9	0	3	0	1	0	2	0	4	1	4	1	1	3	2	2	1	3	6	5			C3L-00095_TP	C3L-00095_NB	A	A																c.2948T>A	p.Ile983Asn	p.I983N	ENST00000373957	23/35	233	217	16	161	161	0	strelka-varscan-mutect	PCDH15,missense_variant,p.Ile983Asn,ENST00000614895,;PCDH15,missense_variant,p.Ile978Asn,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Ile978Asn,ENST00000414778,;PCDH15,missense_variant,p.Ile983Asn,ENST00000617051,;PCDH15,missense_variant,p.Ile983Asn,ENST00000373957,NM_001142763.1;PCDH15,missense_variant,p.Ile978Asn,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,missense_variant,p.Ile978Asn,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Ile956Asn,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Ile941Asn,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Ile978Asn,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Ile907Asn,ENST00000622048,;PCDH15,missense_variant,p.Ile907Asn,ENST00000437009,NM_001142765.1;PCDH15,missense_variant,p.Ile978Asn,ENST00000617271,NM_001142770.1;PCDH15,missense_variant,p.Ile990Asn,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Ile985Asn,ENST00000395445,;PCDH15,missense_variant,p.Ile978Asn,ENST00000616114,;PCDH15,missense_variant,p.Ile978Asn,ENST00000395438,;PCDH15,missense_variant,p.Ile990Asn,ENST00000612394,;PCDH15,missense_variant,p.Ile983Asn,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Ile589Asn,ENST00000409834,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	T	ENST00000373957	Transcript	missense_variant	3343/7032	2948/5889	983/1962	I/N	aTt/aAt	COSM1585002,COSM918991,COSM918992,COSM918993	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1	deleterious(0)		23/35		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		.	.												T	3	4	10	53961828	53961828	A	T	1	0	0	0	0	1	0	0	0	11598	101	4	4		4	PCDH15	10	53961828	Missense_Mutation	SNP	A	C3L-00095_TP	139613	53961828	79835594	439	3820											
BICC1	0	.	GRCh38	chr10	58786950	58786950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtcacactgaagatggatGtttcacatacagaacattca	15	10	8	8	0	3	3	3	1	0	2	3	5	3	4	0	1	2	1	0	1	3	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.415G>A	p.Val139Ile	p.V139I	ENST00000373886	5/21	70	64	6	69	69	0	strelka-varscan-mutect	BICC1,missense_variant,p.Val139Ile,ENST00000373886,NM_001080512.2;	A	ENST00000373886	Transcript	missense_variant	419/5475	415/2925	139/974	V/I	Gtt/Att		1		1	BICC1	HGNC	HGNC:19351	protein_coding	YES	CCDS31206.1	ENSP00000362993	Q9H694		UPI000059D156	NM_001080512.2	deleterious(0)		5/21		Gene3D:3.30.1370.10,Pfam_domain:PF00013,PROSITE_profiles:PS50084,hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF38,SMART_domains:SM00322,Superfamily_domains:SSF54791																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	10	58786950	58786950	G	A	1	0	0	0	0	1	0	0	0	1576	1377	48	3		3	BICC1	10	58786950	Missense_Mutation	SNP	G	C3L-00095_TP	4825122	58786950	75010472	440	3821											
LRRTM3	0	.	GRCh38	chr10	66927032	66927032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgccctaagggctgtaGgtgtgaaggcaaaatggtat	12	9	15	5	0	0	1	0	1	0	0	0	2	0	2	1	5	1	4	1	5	6	3			C3L-00095_TP	C3L-00095_NB	G	G																c.116G>T	p.Arg39Met	p.R39M	ENST00000361320	2/3	227	213	14	239	239	0	strelka-varscan-mutect	LRRTM3,missense_variant,p.Arg39Met,ENST00000361320,NM_178011.4;CTNNA3,intron_variant,,ENST00000433211,NM_001127384.2,NM_013266.3;CTNNA3,intron_variant,,ENST00000494580,;	T	ENST00000361320	Transcript	missense_variant	694/4358	116/1746	39/581	R/M	aGg/aTg	COSM4935865,COSM4935866,COSM539355,COSM539356	1		1	LRRTM3	HGNC	HGNC:19410	protein_coding	YES	CCDS7270.1	ENSP00000355187	Q86VH5		UPI0000088C0F	NM_178011.4	deleterious(0)		2/3		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF54,SMART_domains:SM00013,Superfamily_domains:SSF52058											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												T	3	4	10	66927032	66927032	G	T	1	0	0	0	0	1	0	0	0	8947	1000	35	2		2	LRRTM3	10	66927032	Missense_Mutation	SNP	G	C3L-00095_TP	8140082	66927032	66870390	441	3822											
CFAP70	0	.	GRCh38	chr10	73299613	73299613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggcacttgccttctgagCtcctcctgtccgacgggtaa	5	13	10	13	2	1	1	0	1	1	0	4	2	4	1	4	2	2	3	4	2	1	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1519G>A	p.Ala507Thr	p.A507T	ENST00000310715	14/28	222	204	18	239	239	0	strelka-varscan-mutect	CFAP70,missense_variant,p.Ala507Thr,ENST00000310715,NM_145170.3;CFAP70,5_prime_UTR_variant,,ENST00000355577,;CFAP70,intron_variant,,ENST00000340329,;CFAP70,upstream_gene_variant,,ENST00000433268,;CFAP70,non_coding_transcript_exon_variant,,ENST00000493787,;	T	ENST00000310715	Transcript	missense_variant	1640/3703	1519/3366	507/1121	A/T	Gct/Act		1		-1	CFAP70	HGNC	HGNC:30726	protein_coding	YES	CCDS7324.3	ENSP00000310829	Q5T0N1		UPI00001AEF7A	NM_145170.3	deleterious(0)		14/28		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF394																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	73299613	73299613	C	T	1	0	0	0	0	1	0	0	0	3031	797	28	3		3	CFAP70	10	73299613	Missense_Mutation	SNP	C	C3L-00095_TP	6372581	73299613	60497809	442	3823											
ANXA7	0	.	GRCh38	chr10	73387778	73387778	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccacaattgcctgctcatCtgtccctggaagaaccacac	11	9	6	15	0	2	1	1	0	1	1	4	2	4	2	4	1	3	1	4	1	3	1	rs771660159		C3L-00095_TP	C3L-00095_NB	C	C																c.610G>C	p.Asp204His	p.D204H	ENST00000372919	8/14	247	221	26	278	278	0	strelka-varscan-mutect	ANXA7,missense_variant,p.Asp182His,ENST00000372921,NM_001320879.1,NM_001156.3;ANXA7,missense_variant,p.Asp204His,ENST00000372919,NM_004034.2;RP11-537A6.9,downstream_gene_variant,,ENST00000427492,;ANXA7,non_coding_transcript_exon_variant,,ENST00000492380,;	G	ENST00000372919	Transcript	missense_variant	667/2174	610/1467	204/488	D/H	Gat/Cat	rs771660159	1		-1	ANXA7	HGNC	HGNC:545	protein_coding	YES	CCDS7326.1	ENSP00000362010	P20073		UPI000013DB45	NM_004034.2	deleterious(0)		8/14		hmmpanther:PTHR10502:SF110,hmmpanther:PTHR10502,PROSITE_patterns:PS00223,Pfam_domain:PF00191,Gene3D:1.10.220.10,SMART_domains:SM00335,Superfamily_domains:SSF47874,Prints_domain:PR00196																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	73387778	73387778	C	G	1	0	0	0	0	1	0	0	0	831	927	32	4		4	ANXA7	10	73387778	Missense_Mutation	SNP	C	C3L-00095_TP	88165	73387778	60409644	443	3824											
SFTPA2	0	.	GRCh38	chr10	79557248	79557248	+	Missense_Mutation	SNP	C	C	A																															agtcgggagtacaggcagttCctgtcattccactgcccatc																								novel		C3L-00095_TP	C3L-00095_NB	C	C																c.708G>T	p.Arg236Ser	p.R236S	ENST00000372325	6/6	186	175	11	236	236	0	varscan-mutect	SFTPA2,missense_variant,p.Arg236Ser,ENST00000372325,NM_001320813.1,NM_001320814.1,NM_001098668.2;SFTPA2,missense_variant,p.Arg236Ser,ENST00000372327,;SFTPA2,downstream_gene_variant,,ENST00000417041,;SFTPA2,downstream_gene_variant,,ENST00000492049,;	A	ENST00000372325	Transcript	missense_variant	793/2189	708/747	236/248	R/S	agG/agT		1		-1	SFTPA2	HGNC	HGNC:10799	protein_coding	YES	CCDS41540.1	ENSP00000361400	Q8IWL1		UPI000013CAFF	NM_001320813.1,NM_001320814.1,NM_001098668.2	deleterious(0)		6/6		PROSITE_profiles:PS50041,hmmpanther:PTHR24024,hmmpanther:PTHR24024:SF21,PROSITE_patterns:PS00615,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	79557248	79557248	C	A	1	0	0	0	0	1	0	0	0	14450	854	30	2		2	SFTPA2	10	79557248	Missense_Mutation	SNP	C	C3L-00095_TP	6169470	79557248	54240174	444	3825	86	2									
SFTPA2	0	.	GRCh38	chr10	79557249	79557249	+	Missense_Mutation	SNP	C	C	A																															gtcgggagtacaggcagttcCtgtcattccactgcccatct																								novel		C3L-00095_TP	C3L-00095_NB	C	C																c.707G>T	p.Arg236Met	p.R236M	ENST00000372325	6/6	184	172	12	238	238	0	varscan-mutect	SFTPA2,missense_variant,p.Arg236Met,ENST00000372325,NM_001320813.1,NM_001320814.1,NM_001098668.2;SFTPA2,missense_variant,p.Arg236Met,ENST00000372327,;SFTPA2,downstream_gene_variant,,ENST00000417041,;SFTPA2,downstream_gene_variant,,ENST00000492049,;	A	ENST00000372325	Transcript	missense_variant	792/2189	707/747	236/248	R/M	aGg/aTg		1		-1	SFTPA2	HGNC	HGNC:10799	protein_coding	YES	CCDS41540.1	ENSP00000361400	Q8IWL1		UPI000013CAFF	NM_001320813.1,NM_001320814.1,NM_001098668.2	deleterious(0)		6/6		PROSITE_profiles:PS50041,hmmpanther:PTHR24024,hmmpanther:PTHR24024:SF21,PROSITE_patterns:PS00615,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	79557249	79557249	C	A	1	0	0	0	0	1	0	0	0	14450	681	24	2		2	SFTPA2	10	79557249	Missense_Mutation	SNP	C	C3L-00095_TP	1	79557249	54240173	445	3826	86	2									
CDHR1	0	.	GRCh38	chr10	84202987	84202987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gattcttctgcaggatggcgGtgggaggcttcatggggctg	5	11	18	7	1	3	0	1	0	2	0	3	3	3	2	0	7	1	3	0	7	0	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.647G>T	p.Gly216Val	p.G216V	ENST00000623527	8/17	379	346	33	462	462	0	strelka-varscan-mutect	CDHR1,missense_variant,p.Gly216Val,ENST00000623527,NM_033100.3;CDHR1,missense_variant,p.Gly10Val,ENST00000372117,;CDHR1,missense_variant,p.Gly216Val,ENST00000332904,NM_001171971.2;CDHR1,upstream_gene_variant,,ENST00000624091,;	T	ENST00000623527	Transcript	missense_variant	773/6781	647/2580	216/859	G/V	gGt/gTt		1		1	CDHR1	HGNC	HGNC:14550	protein_coding	YES	CCDS7372.1	ENSP00000485478	Q96JP9	F1T0L2	UPI0000161C2F	NM_033100.3	deleterious(0)		8/17		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF340,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	84202987	84202987	G	T	1	0	0	0	0	1	0	0	0	2821	1261	44	2		2	CDHR1	10	84202987	Missense_Mutation	SNP	G	C3L-00095_TP	4645738	84202987	49594435	446	3827											
LRIT2	0	.	GRCh38	chr10	84222129	84222129	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctgggctgcccaggcatAggcgcccacaggcactgcaa	8	4	13	16	1	0	0	0	0	0	0	0	0	0	0	3	4	2	4	3	4	2	1	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.1474T>A	p.Tyr492Asn	p.Y492N	ENST00000538192	4/4	66	59	7	128	127	1	strelka-varscan-mutect	LRIT2,missense_variant,p.Tyr492Asn,ENST00000538192,NM_001284223.1;LRIT2,missense_variant,p.Tyr482Asn,ENST00000372113,NM_001017924.3;CDHR1,downstream_gene_variant,,ENST00000623527,NM_033100.3;CDHR1,downstream_gene_variant,,ENST00000372117,;CDHR1,downstream_gene_variant,,ENST00000332904,NM_001171971.2;CDHR1,downstream_gene_variant,,ENST00000623399,;CDHR1,downstream_gene_variant,,ENST00000459673,;	T	ENST00000538192	Transcript	missense_variant	1543/3177	1474/1683	492/560	Y/N	Tat/Aat		1		-1	LRIT2	HGNC	HGNC:23443	protein_coding	YES	CCDS60581.1	ENSP00000438264	A6NDA9		UPI000189A8DA	NM_001284223.1	deleterious(0)		4/4		Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	84222129	84222129	A	T	1	0	0	0	0	1	0	0	0	8843	420	15	4		4	LRIT2	10	84222129	Missense_Mutation	SNP	A	C3L-00095_TP	19142	84222129	49575293	447	3828											
LRIT1	0	.	GRCh38	chr10	84241388	84241388	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagaagccccgggcctGggggggccacgcaagggcca	7	1	20	13	2	0	1	0	0	0	1	0	1	0	1	5	7	1	2	5	7	2	0	rs759958964,rs779621124		C3L-00095_TP	C3L-00095_NB	G	G																c.52C>T	p.Gln18Ter	p.Q18*	ENST00000372105	1/4	124	116	8	160	160	0	strelka-varscan-mutect	LRIT1,stop_gained,p.Gln18Ter,ENST00000372105,NM_015613.2;RGR,upstream_gene_variant,,ENST00000359452,NM_002921.3,NM_001012720.1;RGR,upstream_gene_variant,,ENST00000358110,NM_001012722.1;RGR,upstream_gene_variant,,ENST00000372092,;RGR,upstream_gene_variant,,ENST00000478727,;RGR,upstream_gene_variant,,ENST00000483660,;RGR,upstream_gene_variant,,ENST00000469446,;RGR,upstream_gene_variant,,ENST00000483771,;	A	ENST00000372105	Transcript	stop_gained	74/2228	52/1872	18/623	Q/*	Cag/Tag	rs759958964,rs779621124,COSM1967218	1		-1	LRIT1	HGNC	HGNC:23404	protein_coding	YES	CCDS7373.1	ENSP00000361177	Q9P2V4		UPI000006F66C	NM_015613.2			1/4		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF9,Cleavage_site_(Signalp):SignalP-noTM											0,0,1						HIGH	1	SNV	1		0,0,1	1										PASS		rs779621124	.												A	4	1	10	84241388	84241388	G	A	1	0	0	0	0	0	1	0	0	8842	1357	47	3		3	LRIT1	10	84241388	Nonsense_Mutation	SNP	G	C3L-00095_TP	19259	84241388	49556034	448	3829											
WAPL	0	.	GRCh38	chr10	86453286	86453286	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgaagcacacagttcagCgctgtgcctatgagaccgtc	10	8	10	13	2	1	2	1	2	0	1	2	3	1	2	3	0	3	3	3	0	2	2	rs143872928		C3L-00095_TP	C3L-00095_NB	C	C																c.2883G>T	p.=	p.A961A	ENST00000298767	14/19	310	291	19	363	362	1	strelka-varscan-mutect	WAPL,synonymous_variant,p.=,ENST00000298767,NM_001318328.1,NM_015045.2;WAPL,synonymous_variant,p.=,ENST00000618527,;WAPL,synonymous_variant,p.=,ENST00000263070,;WAPL,synonymous_variant,p.=,ENST00000372075,;WAPL,non_coding_transcript_exon_variant,,ENST00000495124,;	A	ENST00000298767	Transcript	synonymous_variant	3356/6333	2883/3573	961/1190	A	gcG/gcT	rs143872928	1		-1	WAPL	HGNC	HGNC:23293	protein_coding	YES	CCDS7375.1	ENSP00000298767	Q7Z5K2		UPI00001AE41A	NM_001318328.1,NM_015045.2			14/19		PROSITE_profiles:PS51271,hmmpanther:PTHR22100:SF13,hmmpanther:PTHR22100,Pfam_domain:PF07814,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		rs143872928	.												A	2	1	10	86453286	86453286	C	A	1	0	0	0	0	0	0	0	1	17808	755	27	1		1	WAPL	10	86453286	Silent	SNP	C	C3L-00095_TP	2211898	86453286	47344136	449	3830											
RBP4	0	.	GRCh38	chr10	93593978	93593978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgaggttcaggaggcggCaggagtactgcacggcatac	10	6	15	10	3	1	0	1	0	0	0	2	3	1	2	0	6	3	5	0	6	2	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.413G>T	p.Cys138Phe	p.C138F	ENST00000371467	5/6	528	480	48	678	676	2	strelka-varscan-mutect	RBP4,missense_variant,p.Cys138Phe,ENST00000371467,;RBP4,missense_variant,p.Cys138Phe,ENST00000371464,NM_006744.3;RBP4,missense_variant,p.Cys136Phe,ENST00000629763,NM_001323518.1;RBP4,missense_variant,p.Cys136Phe,ENST00000371469,;FFAR4,intron_variant,,ENST00000604414,;FFAR4,downstream_gene_variant,,ENST00000371483,NM_181745.3;FFAR4,downstream_gene_variant,,ENST00000371481,NM_001195755.1;	A	ENST00000371467	Transcript	missense_variant	733/1314	413/606	138/201	C/F	tGc/tTc		1		-1	RBP4	HGNC	HGNC:9922	protein_coding	YES	CCDS31249.1	ENSP00000360522	P02753		UPI0000044958		deleterious(0)		5/6		hmmpanther:PTHR11873,hmmpanther:PTHR11873:SF2,Gene3D:2.40.128.20,PIRSF_domain:PIRSF500204,PIRSF_domain:PIRSF036893,Pfam_domain:PF00061,Superfamily_domains:SSF50814,Prints_domain:PR01174																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	10	93593978	93593978	C	A	1	0	0	0	0	1	0	0	0	13326	710	25	2		2	RBP4	10	93593978	Missense_Mutation	SNP	C	C3L-00095_TP	7140692	93593978	40203444	450	3831											
CYP2C18	0	.	GRCh38	chr10	94735295	94735295	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgggagagggcctggccCgcatggagctgtttttattc	6	12	15	8	1	0	1	0	0	0	1	1	3	0	2	2	4	1	4	2	4	2	5	rs79500998		C3L-00095_TP	C3L-00095_NB	C	C																c.1324C>A	p.Arg442Ser	p.R442S	ENST00000285979	9/9	243	227	16	256	253	3	strelka-varscan-mutect	CYP2C18,missense_variant,p.Arg442Ser,ENST00000285979,NM_000772.2;CYP2C18,missense_variant,p.Arg383Ser,ENST00000339022,NM_001128925.1;RP11-400G3.5,intron_variant,,ENST00000464755,;	A	ENST00000285979	Transcript	missense_variant	1523/2418	1324/1473	442/490	R/S	Cgc/Agc	rs79500998	1		1	CYP2C18	HGNC	HGNC:2620	protein_coding	YES	CCDS7435.1	ENSP00000285979	P33260		UPI000013DE1D	NM_000772.2	deleterious(0.01)		9/9		hmmpanther:PTHR24300:SF123,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463,Prints_domain:PR00385																	MODERATE	1	SNV	1			1										PASS		rs79500998	.												A	3	1	10	94735295	94735295	C	A	1	0	0	0	0	1	0	0	0	3968	652	23	1		1	CYP2C18	10	94735295	Missense_Mutation	SNP	C	C3L-00095_TP	1141317	94735295	39062127	451	3832											
ZNF518A	0	.	GRCh38	chr10	96157050	96157050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtaaatgtcatcatgtatGttttaccaaaggagagcttc	12	14	9	6	0	2	1	2	0	0	1	3	2	2	1	1	2	2	4	1	2	5	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.728G>T	p.Cys243Phe	p.C243F	ENST00000624776	6/6	87	80	7	80	80	0	strelka-varscan-mutect	ZNF518A,missense_variant,p.Cys243Phe,ENST00000624776,NM_001278525.1;ZNF518A,missense_variant,p.Cys243Phe,ENST00000614149,;ZNF518A,missense_variant,p.Cys243Phe,ENST00000316045,NM_001278524.1,NM_014803.3;ZNF518A,missense_variant,p.Cys243Phe,ENST00000478086,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;ZNF518A,downstream_gene_variant,,ENST00000488700,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,;	T	ENST00000624776	Transcript	missense_variant	1292/7994	728/4452	243/1483	C/F	tGt/tTt		1		1	ZNF518A	HGNC	HGNC:29009	protein_coding	YES	CCDS73170.1	ENSP00000485614	Q6AHZ1		UPI00003FEC7C	NM_001278525.1	deleterious(0.03)		6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR10032:SF198,hmmpanther:PTHR10032,PROSITE_patterns:PS00028,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	96157050	96157050	G	T	1	0	0	0	0	1	0	0	0	18534	1377	48	2		2	ZNF518A	10	96157050	Missense_Mutation	SNP	G	C3L-00095_TP	1421755	96157050	37640372	452	3833											
DNTT	0	.	GRCh38	chr10	96324298	96324298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttggagtggggctgaaGacttctgagaagtggttcag	9	12	16	4	0	2	3	1	2	1	2	2	5	2	4	0	4	0	3	0	4	3	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.783G>T	p.Lys261Asn	p.K261N	ENST00000371174	6/11	140	131	9	175	175	0	strelka-varscan-mutect	DNTT,missense_variant,p.Lys261Asn,ENST00000371174,NM_004088.3;DNTT,missense_variant,p.Lys261Asn,ENST00000630152,NM_001017520.1;	T	ENST00000371174	Transcript	missense_variant	885/1972	783/1530	261/509	K/N	aaG/aaT		1		1	DNTT	HGNC	HGNC:2983	protein_coding	YES	CCDS7447.1	ENSP00000360216	P04053		UPI000013C84B	NM_004088.3	deleterious(0)		6/11		Gene3D:1.10.150.20,Pfam_domain:PF10391,PIRSF_domain:PIRSF000817,PIRSF_domain:PIRSF501175,Prints_domain:PR00869,hmmpanther:PTHR11276,hmmpanther:PTHR11276:SF21,SMART_domains:SM00483,Superfamily_domains:SSF81585																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	96324298	96324298	G	T	1	0	0	0	0	1	0	0	0	4494	933	33	2		2	DNTT	10	96324298	Missense_Mutation	SNP	G	C3L-00095_TP	167248	96324298	37473124	453	3834											
SLIT1	0	.	GRCh38	chr10	97030826	97030826	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgtcattgccgtggagaGacctgagaagggaagaggct	12	7	16	6	1	1	4	1	1	0	4	1	8	1	6	2	3	1	1	2	3	2	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2513C>G	p.Ser838Cys	p.S838C	ENST00000266058	25/37	244	222	22	316	316	0	strelka-varscan-mutect	SLIT1,missense_variant,p.Ser838Cys,ENST00000266058,NM_003061.2;SLIT1,missense_variant,p.Ser838Cys,ENST00000371070,;	C	ENST00000266058	Transcript	missense_variant,splice_region_variant	2759/7925	2513/4605	838/1534	S/C	tCt/tGt		1		-1	SLIT1	HGNC	HGNC:11085	protein_coding	YES	CCDS7453.1	ENSP00000266058	O75093		UPI00001F9491	NM_003061.2	deleterious(0)		25/37		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF39,Low_complexity_(Seg):seg,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	97030826	97030826	G	C	1	0	0	0	0	1	0	0	0	15030	956	33	4		4	SLIT1	10	97030826	Missense_Mutation	SNP	G	C3L-00095_TP	706528	97030826	36766596	454	3835											
SLF2	0	.	GRCh38	chr10	100924796	100924796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactgaaaagaaaactaaggGgtgattttgatagtgatgaa	17	10	11	3	0	0	6	0	5	0	1	0	6	0	6	0	2	1	0	0	2	7	4	rs574250929		C3L-00095_TP	C3L-00095_NB	G	G																c.1795G>T	p.Gly599Cys	p.G599C	ENST00000370269	5/19	330	301	29	395	395	0	strelka-varscan-mutect	SLF2,missense_variant,p.Gly599Cys,ENST00000238961,NM_018121.3;SLF2,missense_variant,p.Gly599Cys,ENST00000370269,NM_001136123.1;SLF2,missense_variant,p.Gly599Cys,ENST00000370271,;	T	ENST00000370269	Transcript	missense_variant	1927/3712	1795/3561	599/1186	G/C	Ggt/Tgt	rs574250929	1		1	SLF2	HGNC	HGNC:17814	protein_coding	YES	CCDS44470.1	ENSP00000359292	Q8IX21		UPI0000458847	NM_001136123.1	deleterious(0.01)		5/19		hmmpanther:PTHR16046,hmmpanther:PTHR16046:SF10																	MODERATE	1	SNV	1			1										PASS		rs574250929	.												T	3	4	10	100924796	100924796	G	T	1	0	0	0	0	1	0	0	0	15021	1232	43	2		2	SLF2	10	100924796	Missense_Mutation	SNP	G	C3L-00095_TP	3893970	100924796	32872626	455	3836											
PSD	0	.	GRCh38	chr10	102416483	102416483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaggagtaaaggccatCtgctccaacctggggtgggg	10	6	17	8	0	1	1	0	0	1	1	2	4	2	2	3	6	2	2	3	6	3	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.556G>T	p.Asp186Tyr	p.D186Y	ENST00000020673	2/17	154	141	13	194	194	0	strelka-varscan-mutect	PSD,missense_variant,p.Asp186Tyr,ENST00000020673,NM_002779.4;PSD,missense_variant,p.Asp186Tyr,ENST00000406432,NM_001270965.1;PSD,5_prime_UTR_variant,,ENST00000611678,NM_001270966.1;FBXL15,upstream_gene_variant,,ENST00000224862,NM_024326.3;FBXL15,upstream_gene_variant,,ENST00000369956,;FBXL15,upstream_gene_variant,,ENST00000432590,;FBXL15,upstream_gene_variant,,ENST00000440407,;FBXL15,upstream_gene_variant,,ENST00000425536,;FBXL15,upstream_gene_variant,,ENST00000457067,;PSD,downstream_gene_variant,,ENST00000492902,;FBXL15,upstream_gene_variant,,ENST00000481808,;PSD,downstream_gene_variant,,ENST00000472685,;PSD,upstream_gene_variant,,ENST00000488194,;	A	ENST00000020673	Transcript	missense_variant	1083/4183	556/3075	186/1024	D/Y	Gat/Tat		1		-1	PSD	HGNC	HGNC:9507	protein_coding	YES	CCDS31272.1	ENSP00000020673	A5PKW4		UPI0000404928	NM_002779.4	deleterious_low_confidence(0)		2/17		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF115																	MODERATE	1	SNV	1			1										PASS		rs1371062329	.												A	3	1	10	102416483	102416483	C	A	1	0	0	0	0	1	0	0	0	12797	913	32	2		2	PSD	10	102416483	Missense_Mutation	SNP	C	C3L-00095_TP	1491687	102416483	31380939	456	3837											
NT5C2	0	.	GRCh38	chr10	103089782	103089782	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatctcactaattgaccGtgtcagctggtgccgcttgt	7	15	9	10	2	2	1	2	1	1	0	3	1	2	1	2	1	2	2	2	1	2	5	rs745326714		C3L-00095_TP	C3L-00095_NB	G	G																c.1576C>G	p.Arg526Gly	p.R526G	ENST00000343289	18/18	146	137	9	140	140	0	strelka-varscan-mutect	NT5C2,missense_variant,p.Arg526Gly,ENST00000343289,NM_001134373.2,NM_012229.4;NT5C2,missense_variant,p.Arg526Gly,ENST00000404739,;CNNM2,3_prime_UTR_variant,,ENST00000369878,NM_017649.4;NT5C2,downstream_gene_variant,,ENST00000421281,;NT5C2,non_coding_transcript_exon_variant,,ENST00000369857,;NT5C2,downstream_gene_variant,,ENST00000469228,;	C	ENST00000343289	Transcript	missense_variant	1671/3435	1576/1686	526/561	R/G	Cgg/Ggg	rs745326714	1		-1	NT5C2	HGNC	HGNC:8022	protein_coding	YES	CCDS7544.1	ENSP00000339479	P49902		UPI0000124F44	NM_001134373.2,NM_012229.4	tolerated(0.16)		18/18																			MODERATE	1	SNV	1			1										PASS		rs745326714	.												C	3	2	10	103089782	103089782	G	C	1	0	0	0	0	1	0	0	0	10750	1144	40	4		4	NT5C2	10	103089782	Missense_Mutation	SNP	G	C3L-00095_TP	673299	103089782	30707640	457	3838											
PCGF6	0	.	GRCh38	chr10	103326570	103326570	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agacccatttttcttctgagGaatttttctacatgtccaat	10	17	5	9	0	3	2	0	1	3	1	4	3	4	3	2	1	1	0	2	1	3	6	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.873C>T	p.=	p.F291F	ENST00000369847	8/10	159	146	13	101	101	0	strelka-varscan-mutect	PCGF6,synonymous_variant,p.=,ENST00000369847,NM_001011663.1;PCGF6,synonymous_variant,p.=,ENST00000337211,NM_032154.3;PCGF6,non_coding_transcript_exon_variant,,ENST00000490296,;	A	ENST00000369847	Transcript	synonymous_variant	941/2230	873/1053	291/350	F	ttC/ttT		1		-1	PCGF6	HGNC	HGNC:21156	protein_coding	YES	CCDS31275.1	ENSP00000358862	Q9BYE7		UPI00001F9669	NM_001011663.1			8/10		hmmpanther:PTHR10825,hmmpanther:PTHR10825:SF15,Superfamily_domains:SSF54236																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	103326570	103326570	G	A	1	0	0	0	0	0	0	0	1	11666	1165	41	3		3	PCGF6	10	103326570	Silent	SNP	G	C3L-00095_TP	236788	103326570	30470852	458	3839											
PCGF6	0	.	GRCh38	chr10	103348799	103348799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtaaaaatgtcttacgatGcagcttttacaaactgttga	14	14	7	6	1	1	1	0	1	1	0	1	2	1	1	0	0	5	4	0	0	7	6	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.474C>T	p.=	p.C158C	ENST00000369847	3/10	120	112	8	88	88	0	strelka-varscan-mutect	PCGF6,synonymous_variant,p.=,ENST00000369847,NM_001011663.1;PCGF6,synonymous_variant,p.=,ENST00000337211,NM_032154.3;PCGF6,non_coding_transcript_exon_variant,,ENST00000490296,;PCGF6,non_coding_transcript_exon_variant,,ENST00000492755,;	A	ENST00000369847	Transcript	synonymous_variant	542/2230	474/1053	158/350	C	tgC/tgT		1		-1	PCGF6	HGNC	HGNC:21156	protein_coding	YES	CCDS31275.1	ENSP00000358862	Q9BYE7		UPI00001F9669	NM_001011663.1			3/10		PROSITE_profiles:PS50089,hmmpanther:PTHR10825,hmmpanther:PTHR10825:SF15,PROSITE_patterns:PS00518,Pfam_domain:PF13923,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	103348799	103348799	G	A	1	0	0	0	0	0	0	0	1	11666	1311	46	3		3	PCGF6	10	103348799	Silent	SNP	G	C3L-00095_TP	22229	103348799	30448623	459	3840											
SORCS3	0	.	GRCh38	chr10	105214550	105214550	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggcctccatgtggtgacGaccgatgggcggctggtggc	4	7	19	11	4	0	1	0	1	0	0	1	3	1	1	3	7	0	1	3	7	0	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2484G>T	p.=	p.T828T	ENST00000369701	18/27	93	85	8	133	133	0	strelka-varscan-mutect	SORCS3,synonymous_variant,p.=,ENST00000369701,NM_014978.2;SORCS3,synonymous_variant,p.=,ENST00000369699,;SORCS3,downstream_gene_variant,,ENST00000393176,;	T	ENST00000369701	Transcript	synonymous_variant	2711/5757	2484/3669	828/1222	T	acG/acT		1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2			18/27		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,Superfamily_domains:SSF49299																	LOW	1	SNV	1			1										PASS		rs904560113	.												T	2	4	10	105214550	105214550	G	T	1	0	0	0	0	0	0	0	1	15254	1045	37	1		1	SORCS3	10	105214550	Silent	SNP	G	C3L-00095_TP	1865751	105214550	28582872	460	3841											
HABP2	0	.	GRCh38	chr10	113584157	113584157	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccacctagcattgctcaAgttaaagccagtggatggtc	10	11	9	11	0	2	0	1	0	1	0	4	1	2	1	3	2	3	3	3	2	4	3	rs149811202		C3L-00095_TP	C3L-00095_NB	A	A																c.1247A>T	p.Lys416Met	p.K416M	ENST00000351270	11/13	87	81	6	136	136	0	strelka-varscan-mutect	HABP2,missense_variant,p.Lys416Met,ENST00000351270,NM_004132.3;HABP2,missense_variant,p.Lys390Met,ENST00000542051,NM_001177660.1;NRAP,downstream_gene_variant,,ENST00000359988,NM_198060.3;NRAP,downstream_gene_variant,,ENST00000369360,;NRAP,downstream_gene_variant,,ENST00000369358,NM_001261463.1;NRAP,downstream_gene_variant,,ENST00000360478,NM_006175.4;	T	ENST00000351270	Transcript	missense_variant	1343/3009	1247/1683	416/560	K/M	aAg/aTg	rs149811202	1		1	HABP2	HGNC	HGNC:4798	protein_coding	YES	CCDS7577.1	ENSP00000277903	Q14520		UPI0000049411	NM_004132.3	deleterious(0)		11/13		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF265,hmmpanther:PTHR24256,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722																	MODERATE	1	SNV	1			1										PASS		rs149811202	.												T	3	4	10	113584157	113584157	A	T	1	0	0	0	0	1	0	0	0	6820	72	3	4		4	HABP2	10	113584157	Missense_Mutation	SNP	A	C3L-00095_TP	8369607	113584157	20213265	461	3842											
PLEKHS1	0	.	GRCh38	chr10	113774292	113774292	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgatggtccagaccaggtCtctggaagaattgagtgtca	11	10	12	8	0	2	4	1	2	1	2	4	5	3	5	2	3	0	0	2	3	2	1	rs753681547		C3L-00095_TP	C3L-00095_NB	C	C																c.720C>A	p.=	p.V240V	ENST00000369310	8/12	145	137	8	121	121	0	strelka-varscan-mutect	PLEKHS1,synonymous_variant,p.=,ENST00000369312,NM_001193434.1;PLEKHS1,synonymous_variant,p.=,ENST00000361048,NM_024889.4;PLEKHS1,synonymous_variant,p.=,ENST00000619563,NM_001193435.1;PLEKHS1,synonymous_variant,p.=,ENST00000369309,;PLEKHS1,synonymous_variant,p.=,ENST00000369310,NM_182601.1;PLEKHS1,5_prime_UTR_variant,,ENST00000354462,;PLEKHS1,upstream_gene_variant,,ENST00000448805,;MIR4483,downstream_gene_variant,,ENST00000636551,;	A	ENST00000369310	Transcript	synonymous_variant	1282/2046	720/1398	240/465	V	gtC/gtA	rs753681547	1		1	PLEKHS1	HGNC	HGNC:26285	protein_coding	YES	CCDS53580.1	ENSP00000358316	Q5SXH7		UPI000047020C	NM_182601.1			8/12		hmmpanther:PTHR12156:SF19,hmmpanther:PTHR12156																	LOW	1	SNV	1			1										PASS		rs753681547	.												A	2	1	10	113774292	113774292	C	A	1	0	0	0	0	0	0	0	1	12179	900	32	2		2	PLEKHS1	10	113774292	Silent	SNP	C	C3L-00095_TP	190135	113774292	20023130	462	3843											
ATRNL1	0	.	GRCh38	chr10	115847915	115847915	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccattgaaccatgtgctggGaacagagctgctgttctgac	9	10	12	10	0	1	3	0	2	1	1	1	4	1	4	2	1	5	4	2	1	2	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.3942G>T	p.=	p.G1314G	ENST00000355044	28/29	243	230	13	301	299	2	strelka-varscan	ATRNL1,synonymous_variant,p.=,ENST00000355044,NM_207303.4;	T	ENST00000355044	Transcript	synonymous_variant	4068/8479	3942/4140	1314/1379	G	ggG/ggT		1		1	ATRNL1	HGNC	HGNC:29063	protein_coding	YES	CCDS7592.1	ENSP00000347152	Q5VV63		UPI000021CCF8	NM_207303.4			28/29		hmmpanther:PTHR10574:SF224,hmmpanther:PTHR10574																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	115847915	115847915	G	T	1	0	0	0	0	0	0	0	1	1360	1161	41	2		2	ATRNL1	10	115847915	Silent	SNP	G	C3L-00095_TP	2073623	115847915	17949507	463	3844											
PNLIPRP3	0	.	GRCh38	chr10	116461228	116461228	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaatggagggaagcacaTgccaggatgtgaagacttaa	15	6	12	8	0	0	2	0	1	0	1	0	5	0	5	2	3	2	1	2	3	4	1	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.746T>G	p.Met249Arg	p.M249R	ENST00000369230	7/12	318	302	16	319	318	1	strelka-varscan-mutect	PNLIPRP3,missense_variant,p.Met249Arg,ENST00000369230,NM_001011709.2;	G	ENST00000369230	Transcript	missense_variant	892/2354	746/1404	249/467	M/R	aTg/aGg		1		1	PNLIPRP3	HGNC	HGNC:23492	protein_coding	YES	CCDS31292.1	ENSP00000358232	Q17RR3		UPI000013DB40	NM_001011709.2	deleterious(0)		7/12		hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF100,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		rs903518394	.												G	3	3	10	116461228	116461228	T	G	1	0	0	0	0	1	0	0	0	12259	1464	51	5		5	PNLIPRP3	10	116461228	Missense_Mutation	SNP	T	C3L-00095_TP	613313	116461228	17336194	464	3845											
KCNK18	0	.	GRCh38	chr10	117209905	117209905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagaggagtaactcgtgtcCcgaactggtgttgggaagac	10	8	16	7	2	0	2	0	0	0	2	2	6	1	4	1	4	2	2	1	4	3	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.761C>A	p.Pro254His	p.P254H	ENST00000334549	3/3	330	308	22	399	397	2	strelka-varscan-mutect	KCNK18,missense_variant,p.Pro254His,ENST00000334549,NM_181840.1;	A	ENST00000334549	Transcript	missense_variant	761/1155	761/1155	254/384	P/H	cCc/cAc		1		1	KCNK18	HGNC	HGNC:19439	protein_coding	YES	CCDS7598.1	ENSP00000334650	Q7Z418		UPI0000046427	NM_181840.1	deleterious(0)		3/3		hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF124																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	117209905	117209905	C	A	1	0	0	0	0	1	0	0	0	7982	623	22	2		2	KCNK18	10	117209905	Missense_Mutation	SNP	C	C3L-00095_TP	748677	117209905	16587517	465	3846											
PRLHR	0	.	GRCh38	chr10	118595058	118595058	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgctgtagagcagcacgaTcagccccttcagctgatgca	10	7	11	13	2	2	2	2	1	0	1	2	4	2	2	2	0	5	6	2	0	1	2	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.187A>T	p.Ile63Phe	p.I63F	ENST00000239032	2/2	48	44	4	77	77	0	varscan-mutect	PRLHR,missense_variant,p.Ile63Phe,ENST00000239032,NM_004248.2;PRLHR,missense_variant,p.Ile63Phe,ENST00000636925,;	A	ENST00000239032	Transcript	missense_variant	377/5446	187/1113	63/370	I/F	Atc/Ttc		1		-1	PRLHR	HGNC	HGNC:4464	protein_coding	YES	CCDS7606.1	ENSP00000239032	P49683		UPI000013CA6F	NM_004248.2	tolerated(0.68)		2/2		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF194,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	118595058	118595058	T	A	1	0	0	0	0	1	0	0	0	12662	1435	50	4		4	PRLHR	10	118595058	Missense_Mutation	SNP	T	C3L-00095_TP	1385153	118595058	15202364	466	3847											
ADAM12	0	.	GRCh38	chr10	126043119	126043119	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtgcccagtgggcctcGcagtggcagttcttcctgtt	4	11	15	11	1	1	0	0	0	1	0	3	1	2	1	3	4	1	4	3	4	0	3	rs764008989		C3L-00095_TP	C3L-00095_NB	G	G																c.2034C>A	p.Cys678Ter	p.C678*	ENST00000368679	18/23	236	224	12	287	287	0	strelka-mutect	ADAM12,stop_gained,p.Cys678Ter,ENST00000368679,NM_003474.5,NM_001288973.1;ADAM12,stop_gained,p.Cys678Ter,ENST00000368676,NM_021641.4,NM_001288974.1,NM_001288975.1;	T	ENST00000368679	Transcript	stop_gained	2344/7938	2034/2730	678/909	C/*	tgC/tgA	rs764008989,COSM915893,COSM915894,COSM915895	1		-1	ADAM12	HGNC	HGNC:190	protein_coding	YES	CCDS7653.1	ENSP00000357668	O43184		UPI000036672C	NM_003474.5,NM_001288973.1			18/23		PROSITE_profiles:PS50026,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF112											0,1,1,1						HIGH	1	SNV	1		0,1,1,1	1										PASS		rs764008989	.												T	4	4	10	126043119	126043119	G	T	1	0	0	0	0	0	1	0	0	280	1079	38	1		1	ADAM12	10	126043119	Nonsense_Mutation	SNP	G	C3L-00095_TP	7448061	126043119	7754303	467	3848											
DOCK1	0	.	GRCh38	chr10	126987607	126987607	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccaccatctggaggcAgctctacgtggtgagaaaat	10	9	13	9	1	2	1	0	1	2	1	3	3	3	2	2	4	2	2	2	4	3	1	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.314A>T	p.Gln105Leu	p.Q105L	ENST00000623213	5/52	207	191	16	258	258	0	strelka-varscan-mutect	DOCK1,missense_variant,p.Gln105Leu,ENST00000280333,NM_001380.4;DOCK1,missense_variant,p.Gln105Leu,ENST00000623213,NM_001290223.1;RP11-223P11.3,downstream_gene_variant,,ENST00000627944,;	T	ENST00000623213	Transcript	missense_variant	376/5761	314/5661	105/1886	Q/L	cAg/cTg		1		1	DOCK1	HGNC	HGNC:2987	protein_coding	YES	CCDS76359.1	ENSP00000485033		A0A096LNH6	UPI0003EAEE97	NM_001290223.1	deleterious(0.01)		5/52		hmmpanther:PTHR23317:SF79,hmmpanther:PTHR23317,Pfam_domain:PF16172																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	126987607	126987607	A	T	1	0	0	0	0	1	0	0	0	4499	188	7	4		4	DOCK1	10	126987607	Missense_Mutation	SNP	A	C3L-00095_TP	944488	126987607	6809815	468	3849											
MUC5AC	0	.	GRCh38	chr11	1164487	1164487	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaaccaggagcactccCgggcctgtgaggaccactgt	8	6	12	15	1	0	1	0	1	0	0	2	3	2	3	5	3	2	2	5	3	1	0	rs758986452		C3L-00095_TP	C3L-00095_NB	C	C																c.1084C>A	p.=	p.R362R	ENST00000621226	9/49	137	125	12	228	228	0	strelka-varscan-mutect	MUC5AC,synonymous_variant,p.=,ENST00000621226,NM_001304359.1;	A	ENST00000621226	Transcript	synonymous_variant	1131/17448	1084/16965	362/5654	R	Cgg/Agg	rs758986452	1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1			9/49		Gene3D:2.10.25.10,Pfam_domain:PF01826,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF291,Superfamily_domains:SSF57567																	LOW	1	SNV	5			1										PASS		rs758986452	.												A	2	1	10	1164487	1164487	C	A	1	0	0	0	0	0	0	0	1	9978	643	23	1		1	MUC5AC	11	1164487	Silent	SNP	C	C3L-00095_TP		1164487	133922135	469	3850											
C11orf21	0	.	GRCh38	chr11	2301826	2301826	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgactttccccctctcagCgccgtcctcagtggccacac	6	9	7	19	2	2	1	2	1	1	0	5	1	4	1	5	1	1	0	5	1	0	1	rs767855802		C3L-00095_TP	C3L-00095_NB	C	C																c.36G>C	p.=	p.A12A	ENST00000456145	1/5	163	147	16	276	276	0	strelka-varscan-mutect	C11orf21,synonymous_variant,p.=,ENST00000456145,NM_001142946.1;C11orf21,5_prime_UTR_variant,,ENST00000381153,;TSPAN32,upstream_gene_variant,,ENST00000182290,NM_139022.2;TSPAN32,upstream_gene_variant,,ENST00000612299,;TSPAN32,upstream_gene_variant,,ENST00000451520,;TSPAN32,upstream_gene_variant,,ENST00000381121,;TSPAN32,upstream_gene_variant,,ENST00000381117,;C11orf21,non_coding_transcript_exon_variant,,ENST00000470369,;C11orf21,intron_variant,,ENST00000495467,;TSPAN32,upstream_gene_variant,,ENST00000483227,;TSPAN32,upstream_gene_variant,,ENST00000479508,;TSPAN32,upstream_gene_variant,,ENST00000461200,;TSPAN32,upstream_gene_variant,,ENST00000493924,;TSPAN32,upstream_gene_variant,,ENST00000446063,;TSPAN32,upstream_gene_variant,,ENST00000339046,;TSPAN32,upstream_gene_variant,,ENST00000498313,;TSPAN32,upstream_gene_variant,,ENST00000437313,;TSPAN32,upstream_gene_variant,,ENST00000484104,;TSPAN32,upstream_gene_variant,,ENST00000493948,;	G	ENST00000456145	Transcript	synonymous_variant	88/1366	36/537	12/178	A	gcG/gcC	rs767855802	1		-1	C11orf21	HGNC	HGNC:13231	protein_coding	YES	CCDS44518.1	ENSP00000406541		E9PAM5	UPI0000DD806C	NM_001142946.1			1/5																			LOW	1	SNV	1			1										PASS		rs767855802	.												G	2	3	10	2301826	2301826	C	G	1	0	0	0	0	0	0	0	1	1778	755	27	4		4	C11orf21	11	2301826	Silent	SNP	C	C3L-00095_TP	1137339	2301826	132784796	470	3851											
OR51G2	0	.	GRCh38	chr11	4915204	4915204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgctacactacgacccaGagagaccaggccaatcctgc	12	5	10	14	1	0	2	0	0	0	2	1	5	1	2	4	1	4	1	4	1	3	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.460C>A	p.Leu154Met	p.L154M	ENST00000322013	1/1	107	97	10	177	177	0	strelka-varscan-mutect	OR51G2,missense_variant,p.Leu154Met,ENST00000322013,NM_001005238.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	T	ENST00000322013	Transcript	missense_variant	460/945	460/945	154/314	L/M	Ctg/Atg		1		-1	OR51G2	HGNC	HGNC:15198	protein_coding	YES	CCDS31365.1	ENSP00000322593	Q8NGK0		UPI0000041C2F	NM_001005238.1	tolerated(0.07)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF133,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												T	3	4	10	4915204	4915204	G	T	1	0	0	0	0	1	0	0	0	11171	933	33	2		2	OR51G2	11	4915204	Missense_Mutation	SNP	G	C3L-00095_TP	2613378	4915204	130171418	471	3852											
OR56B1	0	.	GRCh38	chr11	5736827	5736827	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaggttattagcctccCtgagtgctttgctcagattt	7	15	9	10	0	1	2	1	1	0	1	2	2	2	2	3	1	4	3	3	1	3	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.311C>G	p.Pro104Arg	p.P104R	ENST00000317121	1/1	229	206	23	379	379	0	strelka-varscan-mutect	OR56B1,missense_variant,p.Pro104Arg,ENST00000317121,NM_001005180.2;TRIM22,3_prime_UTR_variant,,ENST00000444844,;TRIM22,3_prime_UTR_variant,,ENST00000429063,;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	G	ENST00000317121	Transcript	missense_variant	311/975	311/975	104/324	P/R	cCt/cGt		1		1	OR56B1	HGNC	HGNC:15245	protein_coding	YES	CCDS31395.1	ENSP00000322939	Q8NGI3		UPI0000046199	NM_001005180.2	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF69,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	10	5736827	5736827	C	G	1	0	0	0	0	1	0	0	0	11209	681	24	4		4	OR56B1	11	5736827	Missense_Mutation	SNP	C	C3L-00095_TP	821623	5736827	129349795	472	3853											
OR52N4	0	.	GRCh38	chr11	5754811	5754812	+	Frame_Shift_Del	DEL	AC	AC	-																															tggagtcccaggactggaagAcacacaactctggatttcct																								novel		C3L-00095_TP	C3L-00095_NB	AC	AC																c.76_77delCA	p.Gln26ThrfsTer28	p.Q26Tfs*28	ENST00000317254	1/1	110	95	15	138	138	0	sindel-varindel-pindel	OR52N4,frameshift_variant,p.Gln26ThrfsTer28,ENST00000317254,NM_001005175.3;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	-	ENST00000317254	Transcript	frameshift_variant	119-120/1037	71-72/966	24/321	D/X	gAC/g		1		1	OR52N4	HGNC	HGNC:15230	protein_coding	YES	CCDS44528.1	ENSP00000323224	Q8NGI2		UPI00001AF18B	NM_001005175.3			1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF74,Superfamily_domains:SSF81321																	HIGH	1	deletion		5		1										PASS		.	.												-	7	5	10	5754811	5754811	AC	-	1	0	1	0	1	0	0	0	0	11202	275	10	0		0	OR52N4	11	5754811	Frame_Shift_Del	DEL	AC	C3L-00095_TP	17984	5754811	129331811	473	3854											
CNGA4	0	.	GRCh38	chr11	6244351	6244351	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgagggtgagcctgaggaggGaacttccaaagatgaagagg	13	5	17	6	1	0	5	0	3	0	2	1	8	1	7	2	4	2	0	2	4	3	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1670G>C	p.Gly557Ala	p.G557A	ENST00000379936	6/6	221	204	17	294	294	0	strelka-varscan-mutect	CNGA4,missense_variant,p.Gly557Ala,ENST00000379936,NM_001037329.3;CNGA4,downstream_gene_variant,,ENST00000533426,;	C	ENST00000379936	Transcript	missense_variant	1785/1863	1670/1728	557/575	G/A	gGa/gCa		1		1	CNGA4	HGNC	HGNC:2152	protein_coding	YES	CCDS31408.1	ENSP00000369268	Q8IV77		UPI000004C7EC	NM_001037329.3	tolerated(0.33)		6/6		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF388,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	10	6244351	6244351	G	C	1	0	0	0	0	1	0	0	0	3379	1174	41	4		4	CNGA4	11	6244351	Missense_Mutation	SNP	G	C3L-00095_TP	489540	6244351	128842271	474	3855											
RRP8	0	.	GRCh38	chr11	6601190	6601190	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcggtccactggctgcagTggccacttcttcacttggct	5	12	11	13	1	2	0	1	0	1	0	3	0	3	0	2	4	2	3	2	4	0	3	rs777644387		C3L-00095_TP	C3L-00095_NB	T	T																c.876A>C	p.=	p.P292P	ENST00000254605	3/7	112	101	11	145	145	0	strelka-varscan-mutect	RRP8,synonymous_variant,p.=,ENST00000254605,NM_015324.3;RRP8,intron_variant,,ENST00000534343,;ILK,upstream_gene_variant,,ENST00000396751,NM_001014795.2;ILK,upstream_gene_variant,,ENST00000299421,NM_001014794.2,NM_004517.3;ILK,upstream_gene_variant,,ENST00000537806,;ILK,upstream_gene_variant,,ENST00000420936,;ILK,upstream_gene_variant,,ENST00000532063,NM_001278442.1;ILK,upstream_gene_variant,,ENST00000528995,NM_001278441.1;ILK,upstream_gene_variant,,ENST00000526318,;ILK,upstream_gene_variant,,ENST00000627400,;RP11-732A19.8,downstream_gene_variant,,ENST00000527191,;ILK,upstream_gene_variant,,ENST00000534565,;RRP8,synonymous_variant,p.=,ENST00000533907,;RRP8,non_coding_transcript_exon_variant,,ENST00000526352,;ILK,upstream_gene_variant,,ENST00000530016,;ILK,upstream_gene_variant,,ENST00000526711,;RRP8,downstream_gene_variant,,ENST00000530762,;ILK,upstream_gene_variant,,ENST00000527121,;ILK,upstream_gene_variant,,ENST00000526114,;	G	ENST00000254605	Transcript	synonymous_variant	994/6560	876/1371	292/456	P	ccA/ccC	rs777644387	1		-1	RRP8	HGNC	HGNC:29030	protein_coding	YES	CCDS31411.1	ENSP00000254605	O43159		UPI00001580F8	NM_015324.3			3/7		Gene3D:3.40.50.150,Pfam_domain:PF05148,hmmpanther:PTHR12787,hmmpanther:PTHR12787:SF0,Superfamily_domains:SSF53335																	LOW	1	SNV	1			1										PASS		rs777644387	.												G	2	3	10	6601190	6601190	T	G	1	0	0	0	0	0	0	0	1	13946	1683	59	5		5	RRP8	11	6601190	Silent	SNP	T	C3L-00095_TP	356839	6601190	128485432	475	3856											
SYT9	0	.	GRCh38	chr11	7303325	7303325	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctccacccagacggggatCcaggagaactgtgcccatgg	9	6	12	14	1	1	2	0	0	1	2	3	4	2	3	4	4	2	0	4	4	1	0	rs368849587		C3L-00095_TP	C3L-00095_NB	C	C																c.432C>A	p.=	p.I144I	ENST00000318881	2/7	190	164	26	276	275	1	strelka-varscan-mutect	SYT9,synonymous_variant,p.=,ENST00000318881,NM_175733.3;SYT9,synonymous_variant,p.=,ENST00000532592,;SYT9,synonymous_variant,p.=,ENST00000524820,;	A	ENST00000318881	Transcript	synonymous_variant	669/3955	432/1476	144/491	I	atC/atA	rs368849587	1		1	SYT9	HGNC	HGNC:19265	protein_coding	YES	CCDS7778.1	ENSP00000324419	Q86SS6		UPI000000DB7B	NM_175733.3			2/7		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF180																	LOW	1	SNV	1			1										PASS		rs368849587	.												A	2	1	10	7303325	7303325	C	A	1	0	0	0	0	0	0	0	1	15875	845	30	2		2	SYT9	11	7303325	Silent	SNP	C	C3L-00095_TP	702135	7303325	127783297	476	3857											
AMPD3	0	.	GRCh38	chr11	10500110	10500110	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggggtttgacagcgtggatGatgagtccaagcacagcgac	10	7	15	9	3	0	3	0	3	0	0	1	5	1	4	1	3	3	2	1	3	1	1	rs763590271		C3L-00095_TP	C3L-00095_NB	G	G																c.1609G>C	p.Asp537His	p.D537H	ENST00000396554	11/15	228	215	13	332	332	0	strelka-varscan-mutect	AMPD3,missense_variant,p.Asp369His,ENST00000444303,NM_001172431.1;AMPD3,missense_variant,p.Asp537His,ENST00000396554,NM_000480.2;AMPD3,missense_variant,p.Asp528His,ENST00000396553,NM_001025389.1;AMPD3,missense_variant,p.Asp528His,ENST00000529507,NM_001172430.1;AMPD3,missense_variant,p.Asp535His,ENST00000528723,NM_001025390.1;AMPD3,non_coding_transcript_exon_variant,,ENST00000530864,;AMPD3,missense_variant,p.Asp528His,ENST00000529834,;AMPD3,3_prime_UTR_variant,,ENST00000534047,;AMPD3,upstream_gene_variant,,ENST00000529744,;AMPD3,downstream_gene_variant,,ENST00000533116,;	C	ENST00000396554	Transcript	missense_variant	1950/3806	1609/2331	537/776	D/H	Gat/Cat	rs763590271	1		1	AMPD3	HGNC	HGNC:470	protein_coding	YES	CCDS7802.1	ENSP00000379802	Q01432		UPI0000161AFD	NM_000480.2	deleterious(0)		11/15		hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF2,PIRSF_domain:PIRSF001251,Pfam_domain:PF00962,Gene3D:3.20.20.140,TIGRFAM_domain:TIGR01429,Superfamily_domains:SSF51556																	MODERATE	1	SNV	1			1										PASS		rs763590271	.												C	3	2	10	10500110	10500110	G	C	1	0	0	0	0	1	0	0	0	685	1290	45	4		4	AMPD3	11	10500110	Missense_Mutation	SNP	G	C3L-00095_TP	3196785	10500110	124586512	477	3858											
CYP2R1	0	.	GRCh38	chr11	14879411	14879411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaggcttcccattagggcCcataattaaatcaatctctt	13	12	6	10	0	2	1	1	0	1	1	4	1	3	1	2	2	0	1	2	2	6	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1033G>T	p.Gly345Cys	p.G345C	ENST00000334636	4/5	183	167	16	208	208	0	strelka-varscan-mutect	CYP2R1,missense_variant,p.Gly345Cys,ENST00000334636,NM_024514.4;CYP2R1,missense_variant,p.Gly112Cys,ENST00000532378,;CYP2R1,downstream_gene_variant,,ENST00000526489,;CYP2R1,downstream_gene_variant,,ENST00000526276,;CYP2R1,downstream_gene_variant,,ENST00000532641,;CYP2R1,downstream_gene_variant,,ENST00000529043,;CYP2R1,3_prime_UTR_variant,,ENST00000530609,;CYP2R1,intron_variant,,ENST00000532805,;CYP2R1,intron_variant,,ENST00000534686,;CYP2R1,intron_variant,,ENST00000525015,;	A	ENST00000334636	Transcript	missense_variant	1080/2235	1033/1506	345/501	G/C	Ggc/Tgc		1		-1	CYP2R1	HGNC	HGNC:20580	protein_coding	YES	CCDS7818.1	ENSP00000334592	Q6VVX0		UPI000003F04B	NM_024514.4	deleterious(0)		4/5		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF48,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	14879411	14879411	C	A	1	0	0	0	0	1	0	0	0	3976	623	22	2		2	CYP2R1	11	14879411	Missense_Mutation	SNP	C	C3L-00095_TP	4379301	14879411	120207211	478	3859											
MRGPRX4	0	.	GRCh38	chr11	18173944	18173944	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttcctcctctgcggcCtgcccttcggcattctgggg	1	13	12	15	2	3	0	0	0	3	0	6	0	5	0	4	5	2	1	4	5	0	3			C3L-00095_TP	C3L-00095_NB	C	C																c.688C>A	p.Leu230Met	p.L230M	ENST00000314254	1/1	206	195	11	296	294	2	strelka-mutect	MRGPRX4,missense_variant,p.Leu230Met,ENST00000314254,NM_054032.3;MRGPRX4,missense_variant,p.Leu230Met,ENST00000618161,;RP11-113D6.6,intron_variant,,ENST00000527671,;	A	ENST00000314254	Transcript	missense_variant	1108/1444	688/969	230/322	L/M	Ctg/Atg	COSM5325889	1		1	MRGPRX4	HGNC	HGNC:17617	protein_coding	YES	CCDS7831.1	ENSP00000314042	Q96LA9		UPI0000061F60	NM_054032.3	deleterious(0.01)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF23,hmmpanther:PTHR11334,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE		SNV			1	1										PASS		.	.												A	3	1	10	18173944	18173944	C	A	1	0	0	0	0	1	0	0	0	9736	680	24	2		2	MRGPRX4	11	18173944	Missense_Mutation	SNP	C	C3L-00095_TP	3294533	18173944	116912678	479	3860											
BBOX1	0	.	GRCh38	chr11	27093198	27093198	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggggctcagagctccagcTacccactttggattttgaag	8	11	11	11	0	1	2	1	1	0	1	2	3	2	3	2	3	3	3	2	3	2	4	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.365T>A	p.Leu122Gln	p.L122Q	ENST00000263182	5/9	208	190	18	258	257	1	strelka-varscan-mutect	BBOX1,missense_variant,p.Leu122Gln,ENST00000263182,NM_003986.2;BBOX1,missense_variant,p.Leu122Gln,ENST00000529202,;BBOX1,missense_variant,p.Leu122Gln,ENST00000528583,;BBOX1,missense_variant,p.Leu122Gln,ENST00000525090,;BBOX1-AS1,intron_variant,,ENST00000530430,;BBOX1-AS1,intron_variant,,ENST00000525302,;BBOX1-AS1,intron_variant,,ENST00000526061,;BBOX1,intron_variant,,ENST00000527505,;	A	ENST00000263182	Transcript	missense_variant	733/1886	365/1164	122/387	L/Q	cTa/cAa		1		1	BBOX1	HGNC	HGNC:964	protein_coding	YES	CCDS7862.1	ENSP00000263182	O75936		UPI0000126A4C	NM_003986.2	deleterious(0)		5/9		hmmpanther:PTHR10696:SF33,hmmpanther:PTHR10696,TIGRFAM_domain:TIGR02409,Gene3D:3.60.130.10,Pfam_domain:PF02668,Superfamily_domains:SSF51197																	MODERATE		SNV	5			1										PASS		rs944670504	.												A	3	1	10	27093198	27093198	T	A	1	0	0	0	0	1	0	0	0	1481	1522	53	4		4	BBOX1	11	27093198	Missense_Mutation	SNP	T	C3L-00095_TP	8919254	27093198	107993424	480	3861											
KCNA4	0	.	GRCh38	chr11	30012597	30012597	+	Frame_Shift_Del	DEL	G	G	-																															agcaagcctctcccgctcccGggcccgggcctgggcagcat																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.82delC	p.Arg28GlyfsTer81	p.R28Gfs*81	ENST00000328224	2/2	50	45	5	84	84	0	sindel-pindel	KCNA4,frameshift_variant,p.Arg28GlyfsTer81,ENST00000328224,NM_002233.3;KCNA4,downstream_gene_variant,,ENST00000526518,;	-	ENST00000328224	Transcript	frameshift_variant	1316/4172	82/1962	28/653	R/X	Cgg/gg		1		-1	KCNA4	HGNC	HGNC:6222	protein_coding	YES	CCDS41629.1	ENSP00000328511	P22459		UPI00001649FF	NM_002233.3			2/2		Gene3D:1kn7A00,Pfam_domain:PF07941,Prints_domain:PR01511,Low_complexity_(Seg):seg																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	10	30012597	30012597	G	-	1	0	1	0	1	0	0	0	0	7921	1115	39	0		0	KCNA4	11	30012597	Frame_Shift_Del	DEL	G	C3L-00095_TP	2919399	30012597	105074025	481	3862											
DCDC1	0	.	GRCh38	chr11	30881263	30881263	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgggggtgtacagtgctcTagctgggtgggtcattttga	6	13	16	6	0	2	1	1	1	1	0	2	1	2	1	0	4	3	3	0	4	2	4	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.2440A>T	p.Arg814Ter	p.R814*	ENST00000406071	18/20	245	229	16	236	236	0	strelka-varscan-mutect	DCDC1,stop_gained,p.Arg1707Ter,ENST00000597505,;DCDC1,stop_gained,p.Arg814Ter,ENST00000406071,NM_020869.3;DCDC1,stop_gained,p.Arg742Ter,ENST00000444572,;DCDC1,3_prime_UTR_variant,,ENST00000303697,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;	A	ENST00000406071	Transcript	stop_gained	2756/4758	2440/2673	814/890	R/*	Aga/Tga		1		-1	DCDC1	HGNC	HGNC:20625	protein_coding	YES	CCDS73270.1	ENSP00000385936		B6ZDN3	UPI0001FB41A5	NM_020869.3			18/20		hmmpanther:PTHR14958,hmmpanther:PTHR14958:SF27,Gene3D:1mfwA00,SMART_domains:SM00537,Superfamily_domains:SSF89837																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	10	30881263	30881263	T	A	1	0	0	0	0	0	1	0	0	4086	1530	53	4		4	DCDC1	11	30881263	Nonsense_Mutation	SNP	T	C3L-00095_TP	868666	30881263	104205359	482	3863											
ABTB2	0	.	GRCh38	chr11	34170944	34170944	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccccatccggacccaaggCctcgatggcttggttgatga	9	8	11	13	2	0	2	0	2	0	0	2	4	1	3	5	4	1	2	5	4	2	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1525G>T	p.Ala509Ser	p.A509S	ENST00000435224	5/17	111	102	9	124	124	0	strelka-varscan-mutect	ABTB2,missense_variant,p.Ala509Ser,ENST00000435224,NM_145804.2;ABTB2,downstream_gene_variant,,ENST00000530814,;	A	ENST00000435224	Transcript	missense_variant	1950/4902	1525/3078	509/1025	A/S	Gcc/Tcc		1		-1	ABTB2	HGNC	HGNC:23842	protein_coding	YES	CCDS7890.2	ENSP00000410157	Q8N961		UPI0001DD21BB	NM_145804.2	deleterious(0)		5/17		Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	34170944	34170944	C	A	1	0	0	0	0	1	0	0	0	113	739	26	2		2	ABTB2	11	34170944	Missense_Mutation	SNP	C	C3L-00095_TP	3289681	34170944	100915678	483	3864											
RAG2	0	.	GRCh38	chr11	36592935	36592935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtaatccagtagcctgtctCagactcatcttcttcatcat	9	15	5	12	0	6	1	4	0	3	1	8	1	7	1	2	0	1	2	2	0	2	4	rs773624427		C3L-00095_TP	C3L-00095_NB	C	C																c.1234G>A	p.Glu412Lys	p.E412K	ENST00000618712	3/3	374	337	37	485	484	1	strelka-varscan-mutect	RAG2,missense_variant,p.Glu412Lys,ENST00000618712,NM_001243785.1,NM_001243786.1;RAG2,missense_variant,p.Glu412Lys,ENST00000311485,NM_000536.3;C11orf74,upstream_gene_variant,,ENST00000446510,NM_001276723.1,NM_001276722.1;C11orf74,upstream_gene_variant,,ENST00000617650,NM_001276724.1;C11orf74,upstream_gene_variant,,ENST00000532470,;C11orf74,upstream_gene_variant,,ENST00000334307,NM_138787.3;C11orf74,upstream_gene_variant,,ENST00000534635,NM_001276725.1;C11orf74,upstream_gene_variant,,ENST00000531554,;C11orf74,upstream_gene_variant,,ENST00000347206,NM_001276727.1,NM_001276726.1;C11orf74,upstream_gene_variant,,ENST00000530697,;RAG2,downstream_gene_variant,,ENST00000529083,;RAG2,downstream_gene_variant,,ENST00000527033,;RAG2,downstream_gene_variant,,ENST00000532616,;C11orf74,upstream_gene_variant,,ENST00000527108,;RAG2,intron_variant,,ENST00000524423,;RAG2,downstream_gene_variant,,ENST00000528428,;RAG2,downstream_gene_variant,,ENST00000534379,;RAG2,downstream_gene_variant,,ENST00000530276,;RAG1,intron_variant,,ENST00000534663,;C11orf74,upstream_gene_variant,,ENST00000528092,;C11orf74,upstream_gene_variant,,ENST00000524539,;	T	ENST00000618712	Transcript	missense_variant	1828/2818	1234/1584	412/527	E/K	Gag/Aag	rs773624427	1		-1	RAG2	HGNC	HGNC:9832	protein_coding	YES	CCDS7903.1	ENSP00000478672	P55895		UPI00001330E9	NM_001243785.1,NM_001243786.1	tolerated(0.06)		3/3		hmmpanther:PTHR10960,hmmpanther:PTHR10960:SF0																	MODERATE	1	SNV	4			1										PASS		rs773624427	.												T	3	4	10	36592935	36592935	C	T	1	0	0	0	0	1	0	0	0	13165	835	29	3		3	RAG2	11	36592935	Missense_Mutation	SNP	C	C3L-00095_TP	2421991	36592935	98493687	484	3865											
OR4A47	0	.	GRCh38	chr11	48489173	48489173	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtggccatctgtaagccCttgcattatttggttatcat	8	17	8	8	0	2	0	1	0	1	0	2	0	2	0	2	2	2	3	2	2	4	6	rs776153456		C3L-00095_TP	C3L-00095_NB	C	C																c.381C>A	p.=	p.P127P	ENST00000446524	1/1	125	116	9	156	156	0	varscan-mutect	OR4A47,synonymous_variant,p.=,ENST00000446524,NM_001005512.2;OR4R1P,upstream_gene_variant,,ENST00000529879,;OR4A48P,upstream_gene_variant,,ENST00000531359,;	A	ENST00000446524	Transcript	synonymous_variant	457/1064	381/930	127/309	P	ccC/ccA	rs776153456	1		1	OR4A47	HGNC	HGNC:31266	protein_coding	YES	CCDS31490.1	ENSP00000412752	Q6IF82		UPI00001971E5	NM_001005512.2			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF87,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs776153456	.												A	2	1	10	48489173	48489173	C	A	1	0	0	0	0	0	0	0	1	11119	668	24	2		2	OR4A47	11	48489173	Silent	SNP	C	C3L-00095_TP	11896238	48489173	86597449	485	3866											
TRIM49B	0	.	GRCh38	chr11	49031847	49031847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctagaaaagtcagtctctGgctattcctgagctctgagg	9	12	11	9	0	3	3	1	2	2	1	5	3	4	3	1	2	2	3	1	2	4	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.248G>T	p.Trp83Leu	p.W83L	ENST00000622138	3/8	360	323	37	549	547	2	strelka-varscan-mutect	TRIM49B,missense_variant,p.Trp83Leu,ENST00000622138,;TRIM49B,missense_variant,p.Trp83Leu,ENST00000332682,NM_001206626.1;	T	ENST00000622138	Transcript	missense_variant	577/2162	248/1359	83/452	W/L	tGg/tTg		1		1	TRIM49B	HGNC	HGNC:42955	protein_coding	YES	CCDS55762.1	ENSP00000481457	A6NDI0		UPI000013EEA1		tolerated(0.61)		3/8		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	49031847	49031847	G	T	1	0	0	0	0	1	0	0	0	17015	1357	47	2		2	TRIM49B	11	49031847	Missense_Mutation	SNP	G	C3L-00095_TP	542674	49031847	86054775	486	3867											
OR4C15	0	.	GRCh38	chr11	55554871	55554871	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcattactcttctatcAtgaacaggaggctctgtggc	8	13	9	11	0	4	1	1	1	3	0	4	2	4	2	1	3	3	2	1	3	3	4	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.565A>T	p.Met189Leu	p.M189L	ENST00000314644	1/1	163	146	17	193	193	0	strelka-varscan-mutect	OR4C15,missense_variant,p.Met189Leu,ENST00000314644,NM_001001920.1;	T	ENST00000314644	Transcript	missense_variant	565/1113	565/1113	189/370	M/L	Atg/Ttg		1		1	OR4C15	HGNC	HGNC:15171	protein_coding	YES	CCDS31501.1	ENSP00000324958	Q8NGM1		UPI00003B288E	NM_001001920.1	deleterious_low_confidence(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF14,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	10	55554871	55554871	A	T	1	0	0	0	0	1	0	0	0	11125	217	8	4		4	OR4C15	11	55554871	Missense_Mutation	SNP	A	C3L-00095_TP	6523024	55554871	79531751	487	3868											
OR5I1	0	.	GRCh38	chr11	55935820	55935820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccactcattaattgttGtgtcagtgcaggatagttta	10	14	11	6	0	2	0	2	0	0	0	2	2	2	2	1	2	2	3	1	2	3	6	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.581C>A	p.Thr194Lys	p.T194K	ENST00000301532	1/1	154	144	10	212	212	0	strelka-varscan-mutect	OR5I1,missense_variant,p.Thr194Lys,ENST00000301532,NM_006637.1;	T	ENST00000301532	Transcript	missense_variant	581/945	581/945	194/314	T/K	aCa/aAa		1		-1	OR5I1	HGNC	HGNC:8347	protein_coding	YES	CCDS7949.1	ENSP00000301532	Q13606	A0A126GVE5	UPI00000405D5	NM_006637.1	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF69,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	10	55935820	55935820	G	T	1	0	0	0	0	1	0	0	0	11234	1377	48	2		2	OR5I1	11	55935820	Missense_Mutation	SNP	G	C3L-00095_TP	380949	55935820	79150802	488	3869											
OR8K5	0	.	GRCh38	chr11	56160074	56160074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccacaacaaaatttgccaGcaccttgggacaaatgacag	16	7	7	11	0	0	1	0	1	0	0	1	2	1	2	3	1	3	1	3	1	4	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.244C>G	p.Leu82Val	p.L82V	ENST00000313447	1/1	179	168	11	180	180	0	strelka-varscan-mutect	OR8K5,missense_variant,p.Leu82Val,ENST00000313447,NM_001004058.2;	C	ENST00000313447	Transcript	missense_variant	244/924	244/924	82/307	L/V	Ctg/Gtg		1		-1	OR8K5	HGNC	HGNC:15315	protein_coding	YES	CCDS31521.1	ENSP00000323853	Q8NH50		UPI000004B231	NM_001004058.2	deleterious_low_confidence(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF60,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1051067133	.												C	3	2	10	56160074	56160074	G	C	1	0	0	0	0	1	0	0	0	11312	962	34	4		4	OR8K5	11	56160074	Missense_Mutation	SNP	G	C3L-00095_TP	224254	56160074	78926548	489	3870											
SLC43A3	0	.	GRCh38	chr11	57410087	57410087	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagggccagcgaaggcacCgtcgagcagagggccaccgc	9	2	16	14	4	1	1	1	0	0	1	2	3	1	1	4	3	2	2	4	3	1	0	rs566601116		C3L-00095_TP	C3L-00095_NB	C	C																c.1134G>T	p.=	p.T378T	ENST00000533524	12/14	79	67	12	103	103	0	strelka-varscan-mutect	SLC43A3,synonymous_variant,p.=,ENST00000395123,NM_014096.3;SLC43A3,synonymous_variant,p.=,ENST00000395124,NM_001278201.1,NM_199329.2;SLC43A3,synonymous_variant,p.=,ENST00000352187,NM_017611.2;SLC43A3,synonymous_variant,p.=,ENST00000529554,;SLC43A3,synonymous_variant,p.=,ENST00000533524,NM_001278206.1;RP11-872D17.8,synonymous_variant,p.=,ENST00000529411,;SLC43A3,downstream_gene_variant,,ENST00000530005,;SLC43A3,upstream_gene_variant,,ENST00000625097,;RP11-872D17.8,intron_variant,,ENST00000534081,;SLC43A3,intron_variant,,ENST00000525205,;RP11-872D17.8,upstream_gene_variant,,ENST00000528835,;	A	ENST00000533524	Transcript	synonymous_variant	1476/1879	1134/1515	378/504	T	acG/acT	rs566601116	1		-1	SLC43A3	HGNC	HGNC:17466	protein_coding	YES	CCDS60784.1	ENSP00000434515	Q8NBI5		UPI0001AE6BEC	NM_001278206.1			12/14		Transmembrane_helices:TMhelix,hmmpanther:PTHR20765:SF1,hmmpanther:PTHR20765,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	LOW	1	SNV	2			1										PASS		rs566601116	.												A	2	1	10	57410087	57410087	C	A	1	0	0	0	0	0	0	0	1	14912	639	23	1		1	SLC43A3	11	57410087	Silent	SNP	C	C3L-00095_TP	1250013	57410087	77676535	490	3871											
OR4D9	0	.	GRCh38	chr11	59515100	59515100	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgcccatgtacttcctgcTccgcaacctgtctattcttg	6	14	6	15	2	2	0	0	0	2	0	4	0	4	0	4	0	4	3	4	0	4	6	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.188T>A	p.Leu63His	p.L63H	ENST00000329328	1/1	155	138	17	230	230	0	strelka-varscan-mutect	OR4D9,missense_variant,p.Leu63His,ENST00000329328,NM_001004711.1;	A	ENST00000329328	Transcript	missense_variant	188/945	188/945	63/314	L/H	cTc/cAc		1		1	OR4D9	HGNC	HGNC:15178	protein_coding	YES	CCDS31564.1	ENSP00000328563	Q8NGE8	A0A126GVP8	UPI0000061EE8	NM_001004711.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF272,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	10	59515100	59515100	T	A	1	0	0	0	0	1	0	0	0	11136	1551	54	4		4	OR4D9	11	59515100	Missense_Mutation	SNP	T	C3L-00095_TP	2105013	59515100	75571522	491	3872											
MS4A3	0	.	GRCh38	chr11	60061263	60061263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaatacttctgtctacCagcccatagatggatcacca	12	10	7	12	0	3	2	1	1	2	1	3	3	3	3	3	1	4	1	3	1	4	4			C3L-00095_TP	C3L-00095_NB	C	C																c.103C>G	p.Gln35Glu	p.Q35E	ENST00000278865	2/7	98	92	6	118	118	0	strelka-varscan-mutect	MS4A3,missense_variant,p.Gln35Glu,ENST00000278865,NM_006138.4;MS4A3,missense_variant,p.Gln35Glu,ENST00000358152,NM_001031809.1;MS4A3,missense_variant,p.Gln35Glu,ENST00000534744,;MS4A3,intron_variant,,ENST00000395032,NM_001031666.1;MS4A3,non_coding_transcript_exon_variant,,ENST00000526199,;MS4A3,missense_variant,p.Gln35Glu,ENST00000525686,;MS4A3,non_coding_transcript_exon_variant,,ENST00000528298,;	G	ENST00000278865	Transcript	missense_variant	176/1613	103/645	35/214	Q/E	Cag/Gag	COSM2153930	1		1	MS4A3	HGNC	HGNC:7317	protein_coding	YES	CCDS31567.1	ENSP00000278865	Q96HJ5		UPI000006E45E	NM_006138.4	tolerated(0.14)		2/7		hmmpanther:PTHR23320:SF74,hmmpanther:PTHR23320											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	10	60061263	60061263	C	G	1	0	0	0	0	1	0	0	0	9839	595	21	4		4	MS4A3	11	60061263	Missense_Mutation	SNP	C	C3L-00095_TP	546163	60061263	75025359	492	3873											
SLC22A24	0	.	GRCh38	chr11	63104231	63104231	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttatgtgtgcaactcttcTaagctcctttaagccctcat	9	16	5	11	0	3	0	1	0	2	0	4	0	4	0	2	0	4	2	2	0	4	6	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.898A>T	p.Arg300Ter	p.R300*	ENST00000612278	5/10	189	172	17	206	206	0	strelka-varscan-mutect	SLC22A24,stop_gained,p.Arg300Ter,ENST00000612278,NM_001136506.2;SLC22A24,stop_gained,p.Arg300Ter,ENST00000417740,;	A	ENST00000612278	Transcript	stop_gained	1340/2101	898/1659	300/552	R/*	Aga/Tga		1		-1	SLC22A24	HGNC	HGNC:28542	protein_coding	YES	CCDS73308.1	ENSP00000480336		A0A087WWM3	UPI000004DAF7	NM_001136506.2			5/10		PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF208,Pfam_domain:PF00083,Superfamily_domains:SSF103473																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	10	63104231	63104231	T	A	1	0	0	0	0	0	1	0	0	14718	1530	53	4		4	SLC22A24	11	63104231	Nonsense_Mutation	SNP	T	C3L-00095_TP	3042968	63104231	71982391	493	3874											
PCNX3	0	.	GRCh38	chr11	65618071	65618071	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatggctgacactcccAtgagccccctgctgaagggg	8	6	13	14	0	0	3	0	3	0	0	1	3	1	3	3	3	3	4	3	3	1	0	rs773268285		C3L-00095_TP	C3L-00095_NB	A	A																c.709A>T	p.Met237Leu	p.M237L	ENST00000355703	6/35	195	181	14	196	195	1	strelka-varscan-mutect	PCNX3,missense_variant,p.Met237Leu,ENST00000355703,NM_032223.3;MAP3K11,upstream_gene_variant,,ENST00000309100,NM_002419.3;MAP3K11,upstream_gene_variant,,ENST00000526293,;MAP3K11,upstream_gene_variant,,ENST00000529839,;PCNX3,upstream_gene_variant,,ENST00000531045,;MAP3K11,upstream_gene_variant,,ENST00000527304,;MAP3K11,upstream_gene_variant,,ENST00000524856,;	T	ENST00000355703	Transcript	missense_variant	1248/7105	709/6105	237/2034	M/L	Atg/Ttg	rs773268285	1		1	PCNX3	HGNC	HGNC:18760	protein_coding	YES	CCDS44650.1	ENSP00000347931	Q9H6A9		UPI0000405B22	NM_032223.3	tolerated(0.92)		6/35		hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF4																	MODERATE		SNV	5			1										PASS		rs773268285	.												T	3	4	10	65618071	65618071	A	T	1	0	0	0	0	1	0	0	0	11681	217	8	4		4	PCNX3	11	65618071	Missense_Mutation	SNP	A	C3L-00095_TP	2513840	65618071	69468551	494	3875											
PCNX3	0	.	GRCh38	chr11	65624344	65624344	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctctgcctccttcttcttCtgtgcccgagacgtggccac	3	14	8	16	2	4	1	0	0	4	1	6	2	5	1	4	1	2	0	4	1	0	4			C3L-00095_TP	C3L-00095_NB	C	C																c.2694C>T	p.=	p.F898F	ENST00000355703	14/35	196	184	12	198	198	0	strelka-varscan-mutect	PCNX3,synonymous_variant,p.=,ENST00000355703,NM_032223.3;PCNX3,downstream_gene_variant,,ENST00000531045,;PCNX3,upstream_gene_variant,,ENST00000439247,;PCNX3,upstream_gene_variant,,ENST00000530174,;	T	ENST00000355703	Transcript	synonymous_variant	3233/7105	2694/6105	898/2034	F	ttC/ttT	COSM4636569,COSM4636570,COSM4636571	1		1	PCNX3	HGNC	HGNC:18760	protein_coding	YES	CCDS44650.1	ENSP00000347931	Q9H6A9		UPI0000405B22	NM_032223.3			14/35		hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF4,Transmembrane_helices:TMhelix											1,1,1						LOW	1	SNV	5		1,1,1	1										PASS		rs1156324903	.												T	2	4	10	65624344	65624344	C	T	1	0	0	0	0	0	0	0	1	11681	912	32	3		3	PCNX3	11	65624344	Silent	SNP	C	C3L-00095_TP	6273	65624344	69462278	495	3876											
NPAS4	0	.	GRCh38	chr11	66424589	66424589	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactttgcccaggagggaTgcagttttctctatgagaag	9	13	11	8	0	1	1	0	1	1	1	2	4	1	3	1	2	3	2	1	2	3	5	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.1699T>A	p.Cys567Ser	p.C567S	ENST00000311034	7/8	128	120	8	201	201	0	strelka-varscan-mutect	NPAS4,missense_variant,p.Cys567Ser,ENST00000311034,NM_178864.3;NPAS4,3_prime_UTR_variant,,ENST00000525148,;NPAS4,downstream_gene_variant,,ENST00000524617,;	A	ENST00000311034	Transcript	missense_variant	1875/3303	1699/2409	567/802	C/S	Tgc/Agc		1		1	NPAS4	HGNC	HGNC:18983	protein_coding	YES	CCDS8138.1	ENSP00000311196	Q8IUM7		UPI0000074744	NM_178864.3	tolerated(0.1)		7/8		hmmpanther:PTHR23043:SF24,hmmpanther:PTHR23043																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	66424589	66424589	T	A	1	0	0	0	0	1	0	0	0	10613	1464	51	4		4	NPAS4	11	66424589	Missense_Mutation	SNP	T	C3L-00095_TP	800245	66424589	68662033	496	3877											
MRGPRD	0	.	GRCh38	chr11	68980717	68980717	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgtcagtggtattgacCaggggctgggtttccaggct	6	12	14	9	0	1	1	1	1	0	0	2	1	2	1	3	5	0	4	3	5	1	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.270G>A	p.=	p.L90L	ENST00000309106	1/1	114	106	8	127	127	0	strelka-mutect	MRGPRD,synonymous_variant,p.=,ENST00000309106,NM_198923.2;	T	ENST00000309106	Transcript	synonymous_variant	270/966	270/966	90/321	L	ctG/ctA		1		-1	MRGPRD	HGNC	HGNC:29626	protein_coding	YES	CCDS31625.1	ENSP00000310631	Q8TDS7		UPI000003BCCA	NM_198923.2			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF29,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	10	68980717	68980717	C	T	1	0	0	0	0	0	0	0	1	9729	581	21	3		3	MRGPRD	11	68980717	Silent	SNP	C	C3L-00095_TP	2556128	68980717	66105905	497	3878											
SLCO2B1	0	.	GRCh38	chr11	75169222	75169222	+	Frame_Shift_Del	DEL	G	G	-																															ctgtgcctgcccacaacctcGgccccagcctcggccccctc																								rs147147496		C3L-00095_TP	C3L-00095_NB	G	G																c.499delG	p.Ala167ProfsTer20	p.A167Pfs*20	ENST00000289575	5/14	109	100	9	194	194	0	sindel-varindel-pindel	SLCO2B1,frameshift_variant,p.Ala167ProfsTer20,ENST00000289575,NM_007256.4;SLCO2B1,frameshift_variant,p.Ala51ProfsTer20,ENST00000532236,;SLCO2B1,frameshift_variant,p.Ala145ProfsTer20,ENST00000428359,NM_001145211.2;SLCO2B1,frameshift_variant,p.Ala23ProfsTer20,ENST00000525650,NM_001145212.2;SLCO2B1,frameshift_variant,p.Ala43ProfsTer20,ENST00000526839,;SLCO2B1,frameshift_variant,p.Ala145ProfsTer?,ENST00000527180,;SLCO2B1,intron_variant,,ENST00000454962,;SLCO2B1,downstream_gene_variant,,ENST00000531713,;SLCO2B1,downstream_gene_variant,,ENST00000534186,;SLCO2B1,intron_variant,,ENST00000526660,;SLCO2B1,intron_variant,,ENST00000531756,;	-	ENST00000289575	Transcript	frameshift_variant	893/4494	498/2130	166/709	S/X	tcG/tc	rs147147496	1		1	SLCO2B1	HGNC	HGNC:10962	protein_coding	YES	CCDS8235.1	ENSP00000289575		A0A024R5I4	UPI000000D99A	NM_007256.4			5/14		Pfam_domain:PF03137,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF87,TIGRFAM_domain:TIGR00805																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	10	75169222	75169222	G	-	1	0	1	0	1	0	0	0	0	15014	1103	39	0		0	SLCO2B1	11	75169222	Frame_Shift_Del	DEL	G	C3L-00095_TP	6188505	75169222	59917400	498	3879											
EMSY	0	.	GRCh38	chr11	76545865	76545865	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaggggcgccagcctccCacagttacaaagataactgg	11	8	11	11	1	0	2	0	1	0	1	1	2	1	2	3	3	3	1	3	3	3	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.3387C>T	p.=	p.P1129P	ENST00000524767	20/21	102	90	12	116	116	0	strelka-varscan-mutect	EMSY,synonymous_variant,p.=,ENST00000529032,;EMSY,synonymous_variant,p.=,ENST00000334736,NM_020193.4;EMSY,synonymous_variant,p.=,ENST00000525038,NM_001300944.1;EMSY,synonymous_variant,p.=,ENST00000524767,NM_001300942.1;EMSY,synonymous_variant,p.=,ENST00000525919,NM_001300943.1;EMSY,synonymous_variant,p.=,ENST00000524490,;EMSY,synonymous_variant,p.=,ENST00000533248,;EMSY,intron_variant,,ENST00000532719,;EMSY,downstream_gene_variant,,ENST00000524451,;EMSY,upstream_gene_variant,,ENST00000531793,;EMSY,downstream_gene_variant,,ENST00000531641,;EMSY,downstream_gene_variant,,ENST00000534573,;	T	ENST00000524767	Transcript	synonymous_variant	3426/4116	3387/4014	1129/1337	P	ccC/ccT		1		1	EMSY	HGNC	HGNC:18071	protein_coding	YES	CCDS73349.1	ENSP00000433205	Q7Z589		UPI000191704B	NM_001300942.1			20/21		hmmpanther:PTHR16500,hmmpanther:PTHR16500:SF3																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	76545865	76545865	C	T	1	0	0	0	0	0	0	0	1	4948	581	21	3		3	EMSY	11	76545865	Silent	SNP	C	C3L-00095_TP	1376643	76545865	58540757	499	3880											
MYO7A	0	.	GRCh38	chr11	77156904	77156904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaatgacaactcaagccGtttcggaaagtacatcgaca	14	7	8	12	4	1	1	1	1	0	0	3	3	1	2	2	1	3	3	2	1	5	2	rs28934610		C3L-00095_TP	C3L-00095_NB	G	G																c.635G>A	p.Arg212His	p.R212H	ENST00000409709	7/49	222	206	16	248	248	0	strelka-varscan-mutect	MYO7A,missense_variant,p.Arg212His,ENST00000409709,NM_000260.3;MYO7A,missense_variant,p.Arg212His,ENST00000458637,NM_001127180.1;MYO7A,missense_variant,p.Arg201His,ENST00000409619,;MYO7A,missense_variant,p.Arg212His,ENST00000409893,NM_001127179.2;MYO7A,missense_variant,p.Arg212His,ENST00000620575,;	A	ENST00000409709	Transcript	missense_variant	907/7462	635/6648	212/2215	R/H	cGt/cAt	rs28934610,CM950827,COSM2018675	1		1	MYO7A	HGNC	HGNC:7606	protein_coding	YES	CCDS53683.1	ENSP00000386331	Q13402		UPI00001FAFE6	NM_000260.3	deleterious(0)		7/49		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF369,hmmpanther:PTHR13140,Pfam_domain:PF00063,Gene3D:3.40.50.300,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193										pathogenic	0,0,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs28934610	.												A	3	1	10	77156904	77156904	G	A	1	0	0	0	0	1	0	0	0	10083	1145	40	1		1	MYO7A	11	77156904	Missense_Mutation	SNP	G	C3L-00095_TP	611039	77156904	57929718	500	3881											
KCTD14	0	.	GRCh38	chr11	78016870	78016870	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaagcacgctggacttcCgtgctgttatggcttctgca	8	11	10	12	2	1	0	0	0	1	0	2	1	2	1	1	2	3	6	1	2	2	3	rs372373172		C3L-00095_TP	C3L-00095_NB	C	C																c.491G>C	p.Arg164Pro	p.R164P	ENST00000353172	2/2	242	216	26	293	293	0	strelka-varscan-mutect	KCTD14,missense_variant,p.Arg164Pro,ENST00000353172,NM_023930.3;KCTD14,missense_variant,p.Arg134Pro,ENST00000533144,NM_001282406.1;NDUFC2-KCTD14,downstream_gene_variant,,ENST00000530054,NM_001203261.1;NDUFC2-KCTD14,downstream_gene_variant,,ENST00000528251,;NDUFC2-KCTD14,downstream_gene_variant,,ENST00000612612,NM_001203260.1;NDUFC2-KCTD14,downstream_gene_variant,,ENST00000614236,NM_001203262.1;RP11-7I15.3,downstream_gene_variant,,ENST00000533697,;	G	ENST00000353172	Transcript	missense_variant	536/1691	491/768	164/255	R/P	cGg/cCg	rs372373172,COSM2019198	1		-1	KCTD14	HGNC	HGNC:23295	protein_coding	YES	CCDS8255.2	ENSP00000316482	Q9BQ13		UPI000003E7AB	NM_023930.3	deleterious(0)		2/2		hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF3											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs372373172	.												G	3	3	10	78016870	78016870	C	G	1	0	0	0	0	1	0	0	0	8018	652	23	4		4	KCTD14	11	78016870	Missense_Mutation	SNP	C	C3L-00095_TP	859966	78016870	57069752	501	3882											
TENM4	0	.	GRCh38	chr11	78670509	78670509	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggtcattcttgtcgaactCaaagatatactgcctctggc	9	12	9	11	2	4	1	2	0	2	1	5	2	4	1	1	2	3	0	1	2	4	4			C3L-00095_TP	C3L-00095_NB	C	C																c.5836G>C	p.Glu1946Gln	p.E1946Q	ENST00000278550	32/34	94	89	5	109	109	0	strelka-varscan-mutect	TENM4,missense_variant,p.Glu1946Gln,ENST00000278550,NM_001098816.2;TENM4,missense_variant,p.Glu410Gln,ENST00000530738,;	G	ENST00000278550	Transcript	missense_variant	6299/14000	5836/8310	1946/2769	E/Q	Gag/Cag	COSM690523,COSM690524	1		-1	TENM4	HGNC	HGNC:29945	protein_coding	YES	CCDS44688.1	ENSP00000278550	Q6N022		UPI0000DD8112	NM_001098816.2	tolerated(0.14)		32/34		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF9											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												G	3	3	10	78670509	78670509	C	G	1	0	0	0	0	1	0	0	0	16174	835	29	4		4	TENM4	11	78670509	Missense_Mutation	SNP	C	C3L-00095_TP	653639	78670509	56416113	502	3883											
CCDC89	0	.	GRCh38	chr11	85685173	85685173	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcaagttgctgtccacagCcactgcctcttgctcaaacc	8	11	6	16	0	3	0	2	0	2	0	5	0	4	0	4	0	5	3	4	0	2	2	rs747276710		C3L-00095_TP	C3L-00095_NB	C	C																c.958G>T	p.Ala320Ser	p.A320S	ENST00000316398	1/1	297	267	30	355	354	1	strelka-varscan-mutect	CCDC89,missense_variant,p.Ala320Ser,ENST00000316398,NM_152723.2;CREBZF,upstream_gene_variant,,ENST00000534224,;CREBZF,upstream_gene_variant,,ENST00000531515,;	A	ENST00000316398	Transcript	missense_variant	1105/1412	958/1125	320/374	A/S	Gct/Tct	rs747276710	1		-1	CCDC89	HGNC	HGNC:26762	protein_coding	YES	CCDS8270.1	ENSP00000320649	Q8N998		UPI000000DAB1	NM_152723.2	deleterious(0.03)		1/1		hmmpanther:PTHR34768,hmmpanther:PTHR34768:SF1																	MODERATE	1	SNV				1										PASS		rs747276710	.												A	3	1	10	85685173	85685173	C	A	1	0	0	0	0	1	0	0	0	2565	739	26	2		2	CCDC89	11	85685173	Missense_Mutation	SNP	C	C3L-00095_TP	7014664	85685173	49401449	503	3884											
TRIM49	0	.	GRCh38	chr11	89804157	89804157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcaggctcctgtccacttCacagaatatcttctttgtct	8	14	7	12	0	4	1	1	0	3	1	6	2	6	1	2	1	1	2	2	1	2	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.313G>C	p.Glu105Gln	p.E105Q	ENST00000329758	3/8	135	127	8	179	179	0	varscan-mutect	TRIM49,missense_variant,p.Glu105Gln,ENST00000329758,NM_020358.2;TRIM49,missense_variant,p.Glu105Gln,ENST00000532501,;	G	ENST00000329758	Transcript	missense_variant	642/2163	313/1359	105/452	E/Q	Gaa/Caa		1		-1	TRIM49	HGNC	HGNC:13431	protein_coding	YES	CCDS8287.1	ENSP00000327604	P0CI25		UPI000013431B	NM_020358.2	deleterious(0.04)		3/8		Gene3D:1freA00,Pfam_domain:PF00643,PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,SMART_domains:SM00336,Superfamily_domains:SSF57845																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	89804157	89804157	C	G	1	0	0	0	0	1	0	0	0	17014	835	29	4		4	TRIM49	11	89804157	Missense_Mutation	SNP	C	C3L-00095_TP	4118984	89804157	45282465	504	3885											
TRIM49C	0	.	GRCh38	chr11	90041120	90041120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaattttgagaagcatgtGtattggatgtgaccatcaag	13	13	11	4	0	1	3	1	3	0	1	1	5	1	4	1	1	1	2	1	1	4	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.929G>T	p.Cys310Phe	p.C310F	ENST00000448984	8/8	377	355	22	412	412	0	varscan-mutect	TRIM49C,missense_variant,p.Cys310Phe,ENST00000448984,NM_001195234.1;	T	ENST00000448984	Transcript	missense_variant	1258/2163	929/1359	310/452	C/F	tGt/tTt		1		1	TRIM49C	HGNC	HGNC:38877	protein_coding	YES	CCDS53694.1	ENSP00000388299	P0CI26		UPI000013EA2B	NM_001195234.1	tolerated(0.37)		8/8		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	90041120	90041120	G	T	1	0	0	0	0	1	0	0	0	17016	1377	48	2		2	TRIM49C	11	90041120	Missense_Mutation	SNP	G	C3L-00095_TP	236963	90041120	45045502	505	3886											
TRPC6	0	.	GRCh38	chr11	101488964	101488964	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggagcaaaccagtaaatGagagccaggaagggcagtcc	15	4	13	9	0	0	1	0	1	0	1	1	4	1	3	3	3	3	3	3	3	4	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1266C>A	p.=	p.L422L	ENST00000344327	4/13	260	244	16	324	324	0	strelka-varscan-mutect	TRPC6,synonymous_variant,p.=,ENST00000344327,NM_004621.5;TRPC6,synonymous_variant,p.=,ENST00000532133,;TRPC6,intron_variant,,ENST00000360497,;TRPC6,intron_variant,,ENST00000348423,;TRPC6,downstream_gene_variant,,ENST00000527240,;	T	ENST00000344327	Transcript	synonymous_variant	1691/4612	1266/2796	422/931	L	ctC/ctA		1		-1	TRPC6	HGNC	HGNC:12338	protein_coding	YES	CCDS8311.1	ENSP00000340913	Q9Y210		UPI00001374BA	NM_004621.5			4/13		Transmembrane_helices:TMhelix,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7,TIGRFAM_domain:TIGR00870																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	101488964	101488964	G	T	1	0	0	0	0	0	0	0	1	17089	1277	45	2		2	TRPC6	11	101488964	Silent	SNP	G	C3L-00095_TP	11447844	101488964	33597658	506	3887											
DYNC2H1	0	.	GRCh38	chr11	103456347	103456347	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgactgcaagaagcaaagctAcaaattaaggtactagacta	18	7	8	8	1	0	2	0	0	0	2	0	3	0	2	0	1	5	4	0	1	9	5	rs756987000		C3L-00095_TP	C3L-00095_NB	A	A																c.12660A>T	p.=	p.L4220L	ENST00000398093	88/90	149	141	8	142	142	0	strelka-varscan-mutect	DYNC2H1,synonymous_variant,p.=,ENST00000375735,NM_001377.2;DYNC2H1,synonymous_variant,p.=,ENST00000398093,NM_001080463.1;DYNC2H1,synonymous_variant,p.=,ENST00000334267,;DYNC2H1,synonymous_variant,p.=,ENST00000533197,;DYNC2H1,3_prime_UTR_variant,,ENST00000528670,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000530547,;	T	ENST00000398093	Transcript	synonymous_variant	12660/12945	12660/12945	4220/4314	L	ctA/ctT	rs756987000	1		1	DYNC2H1	HGNC	HGNC:2962	protein_coding	YES	CCDS44717.1	ENSP00000381167	Q8NCM8		UPI0000481AC7	NM_001080463.1			88/90		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF282,Pfam_domain:PF03028																	LOW	1	SNV	5			1										PASS		rs756987000	.												T	2	4	10	103456347	103456347	A	T	1	0	0	0	0	0	0	0	1	4670	378	14	4		4	DYNC2H1	11	103456347	Silent	SNP	A	C3L-00095_TP	1967383	103456347	31630275	507	3888											
EXPH5	0	.	GRCh38	chr11	108528146	108528146	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttacttaccacagcagctCccctcacaggcataggaggt	10	8	10	13	0	1	0	1	0	0	0	2	1	2	1	3	4	4	4	3	4	3	3	rs780915750		C3L-00095_TP	C3L-00095_NB	C	C																c.482G>T	p.Gly161Val	p.G161V	ENST00000265843	4/6	188	174	14	254	254	0	strelka-varscan-mutect	EXPH5,missense_variant,p.Gly161Val,ENST00000265843,NM_001144764.1,NM_001144765.1,NM_001144763.1,NM_015065.2;EXPH5,missense_variant,p.Gly154Val,ENST00000525344,NM_001308019.1;EXPH5,missense_variant,p.Gly85Val,ENST00000526312,;EXPH5,missense_variant,p.Gly5Val,ENST00000524840,;EXPH5,intron_variant,,ENST00000533052,;EXPH5,downstream_gene_variant,,ENST00000531386,;	A	ENST00000265843	Transcript	missense_variant	593/10187	482/5970	161/1989	G/V	gGa/gTa	rs780915750	1		-1	EXPH5	HGNC	HGNC:30578	protein_coding	YES	CCDS8341.1	ENSP00000265843	Q8NEV8		UPI00018E24EB	NM_001144764.1,NM_001144765.1,NM_001144763.1,NM_015065.2	tolerated(0.12)		4/6		hmmpanther:PTHR21469																	MODERATE	1	SNV	1			1										PASS		rs780915750	.												A	3	1	10	108528146	108528146	C	A	1	0	0	0	0	1	0	0	0	5190	855	30	2		2	EXPH5	11	108528146	Missense_Mutation	SNP	C	C3L-00095_TP	5071799	108528146	26558476	508	3889											
DDX10	0	.	GRCh38	chr11	108723069	108723069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacaacccaccaaagaattGgtaaggagccaagccgataa	19	4	8	10	1	0	1	0	0	0	1	0	3	0	2	4	2	4	1	4	2	7	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1572G>T	p.Leu524Phe	p.L524F	ENST00000322536	13/18	176	155	21	196	196	0	varscan-mutect	DDX10,missense_variant,p.Leu524Phe,ENST00000526794,;DDX10,missense_variant,p.Leu524Phe,ENST00000322536,NM_004398.3;RP11-801G16.2,downstream_gene_variant,,ENST00000533503,;	T	ENST00000322536	Transcript	missense_variant	1701/3264	1572/2628	524/875	L/F	ttG/ttT		1		1	DDX10	HGNC	HGNC:2735	protein_coding	YES	CCDS8342.1	ENSP00000314348	Q13206		UPI0000140E62	NM_004398.3	deleterious(0.05)		13/18		hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF281																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	108723069	108723069	G	T	1	0	0	0	0	1	0	0	0	4146	1339	47	2		2	DDX10	11	108723069	Missense_Mutation	SNP	G	C3L-00095_TP	194923	108723069	26363553	509	3890											
ANKK1	0	.	GRCh38	chr11	113397337	113397337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcgctgcgccagcccGgggaggtgagtgtgtgggct	4	8	19	10	3	0	1	0	1	0	0	1	2	0	2	2	4	3	3	2	4	0	0	rs11604671		C3L-00095_TP	C3L-00095_NB	G	G																c.952G>A	p.Gly318Arg	p.G318R	ENST00000303941	6/8	134	127	7	182	182	0	strelka-varscan-mutect	ANKK1,missense_variant,p.Gly318Arg,ENST00000303941,NM_178510.1;ANKK1,downstream_gene_variant,,ENST00000542948,;	A	ENST00000303941	Transcript	missense_variant	1046/2543	952/2298	318/765	G/R	Ggg/Agg	rs11604671	1		1	ANKK1	HGNC	HGNC:21027	protein_coding	YES	CCDS44734.1	ENSP00000306678	Q8NFD2		UPI000000DCCF	NM_178510.1	tolerated(0.61)		6/8														2.36910921979666e+79					MODERATE	1	SNV	1			1										PASS		rs11604671	.												A	3	1	10	113397337	113397337	G	A	1	0	0	0	0	1	0	0	0	732	1130	39	1		1	ANKK1	11	113397337	Missense_Mutation	SNP	G	C3L-00095_TP	4674268	113397337	21689285	510	3891											
SIK3	0	.	GRCh38	chr11	116875453	116875453	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtacctgcctgctccgccTggaaagcagtacatacatat	11	9	8	13	1	0	0	0	0	0	0	1	1	1	1	4	1	6	4	4	1	5	4	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.1240-2A>T		p.X414_splice	ENST00000375300		206	189	17	240	240	0	strelka-varscan-mutect	SIK3,splice_acceptor_variant,,ENST00000445177,;SIK3,splice_acceptor_variant,,ENST00000375300,NM_025164.4,NM_001281748.1;SIK3,splice_acceptor_variant,,ENST00000446921,NM_001281749.1;SIK3,splice_acceptor_variant,,ENST00000413553,;SIK3,splice_acceptor_variant,,ENST00000415541,;SIK3,non_coding_transcript_exon_variant,,ENST00000472648,;SIK3,upstream_gene_variant,,ENST00000480222,;	A	ENST00000375300	Transcript	splice_acceptor_variant	-/6213	1240/3966	414/1321				1		-1	SIK3	HGNC	HGNC:29165	protein_coding	YES	CCDS8379.2	ENSP00000364449		J3KPC8	UPI000066D90F	NM_025164.4,NM_001281748.1				9/23																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	10	116875453	116875453	T	A	1	0	0	0	0	0	0	1	0	14583	1594	55	4		4	SIK3	11	116875453	Splice_Site	SNP	T	C3L-00095_TP	3478116	116875453	18211169	511	3892											
KMT2A	0	.	GRCh38	chr11	118502639	118502639	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaaagtagttgatcatgtCttagggccactgaattcaag	12	11	10	8	0	3	2	2	2	1	0	3	2	3	2	2	1	0	2	2	1	5	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.6747C>T	p.=	p.V2249V	ENST00000534358	27/36	122	108	14	144	142	2	varscan-mutect	KMT2A,synonymous_variant,p.=,ENST00000534358,NM_001197104.1;KMT2A,synonymous_variant,p.=,ENST00000389506,NM_005933.3;KMT2A,non_coding_transcript_exon_variant,,ENST00000528278,;KMT2A,upstream_gene_variant,,ENST00000534085,;	T	ENST00000534358	Transcript	synonymous_variant	6770/16602	6747/11919	2249/3972	V	gtC/gtT		1		1	KMT2A	HGNC	HGNC:7132	protein_coding	YES	CCDS55791.1	ENSP00000436786	Q03164		UPI0001E5E732	NM_001197104.1			27/36		PIRSF_domain:PIRSF010354																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	118502639	118502639	C	T	1	0	0	0	0	0	0	0	1	8295	900	32	3		3	KMT2A	11	118502639	Silent	SNP	C	C3L-00095_TP	1627186	118502639	16583983	512	3893											
BCL9L	0	.	GRCh38	chr11	118898692	118898692	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggggcaccatcccctgcTgtgggggcacgcctgtcctg	4	8	14	15	1	0	0	0	0	0	0	2	0	2	0	5	4	1	3	5	4	0	0	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.4223A>C	p.Gln1408Pro	p.Q1408P	ENST00000334801	8/8	100	92	8	129	128	1	strelka-varscan-mutect	BCL9L,missense_variant,p.Gln1408Pro,ENST00000334801,NM_182557.2;BCL9L,missense_variant,p.Gln1371Pro,ENST00000526143,;CXCR5,downstream_gene_variant,,ENST00000292174,NM_001716.4;BCL9L,downstream_gene_variant,,ENST00000527266,;BCL9L,downstream_gene_variant,,ENST00000530293,;	G	ENST00000334801	Transcript	missense_variant	5188/10005	4223/4500	1408/1499	Q/P	cAg/cCg		1		-1	BCL9L	HGNC	HGNC:23688	protein_coding	YES	CCDS8403.1	ENSP00000335320	Q86UU0		UPI0000192102	NM_182557.2	deleterious(0.05)		8/8		hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF3																	MODERATE	1	SNV	1			1										PASS		rs1209837729	.												G	3	3	10	118898692	118898692	T	G	1	0	0	0	0	1	0	0	0	1529	1580	55	5		5	BCL9L	11	118898692	Missense_Mutation	SNP	T	C3L-00095_TP	396053	118898692	16187930	513	3894											
FOXR1	0	.	GRCh38	chr11	118980526	118980526	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccggacggccccggaaggCtggaagaatactgtccgtca	9	7	13	12	4	1	1	1	0	0	1	3	4	3	4	4	5	1	1	4	5	4	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.648C>A	p.=	p.G216G	ENST00000317011	5/6	252	233	19	300	296	4	strelka-varscan-mutect	FOXR1,missense_variant,p.Leu122Met,ENST00000533282,;FOXR1,synonymous_variant,p.=,ENST00000317011,NM_181721.2;FOXR1,intron_variant,,ENST00000531539,;	A	ENST00000317011	Transcript	synonymous_variant	873/1159	648/879	216/292	G	ggC/ggA		1		1	FOXR1	HGNC	HGNC:29980	protein_coding	YES	CCDS31688.1	ENSP00000314806	Q6PIV2		UPI0000192103	NM_181721.2			5/6		Gene3D:1.10.10.10,Pfam_domain:PF00250,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF152,SMART_domains:SM00339,Superfamily_domains:SSF46785																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	118980526	118980526	C	A	1	0	0	0	0	0	0	0	1	5896	784	28	2		2	FOXR1	11	118980526	Silent	SNP	C	C3L-00095_TP	81834	118980526	16106096	514	3895											
C2CD2L	0	.	GRCh38	chr11	119114210	119114210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccaccagccatgtctcCaggaccgctagatgccctct	9	7	8	17	1	2	2	0	0	2	2	3	3	2	3	6	1	2	1	6	1	1	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1757C>T	p.Pro586Leu	p.P586L	ENST00000336702	13/14	431	395	36	608	607	1	strelka-varscan-mutect	C2CD2L,missense_variant,p.Pro586Leu,ENST00000336702,NM_014807.4,NM_001290474.1;C2CD2L,missense_variant,p.Pro333Leu,ENST00000528586,;C2CD2L,non_coding_transcript_exon_variant,,ENST00000525598,;C2CD2L,downstream_gene_variant,,ENST00000533458,;C2CD2L,downstream_gene_variant,,ENST00000529874,;	T	ENST00000336702	Transcript	missense_variant	2116/4771	1757/2124	586/707	P/L	cCa/cTa		1		1	C2CD2L	HGNC	HGNC:29000	protein_coding	YES	CCDS8413.1	ENSP00000338885	O14523		UPI0000192105	NM_014807.4,NM_001290474.1	tolerated(0.1)		13/14		hmmpanther:PTHR21119,hmmpanther:PTHR21119:SF8,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	119114210	119114210	C	T	1	0	0	0	0	1	0	0	0	2025	594	21	3		3	C2CD2L	11	119114210	Missense_Mutation	SNP	C	C3L-00095_TP	133684	119114210	15972412	515	3896											
HINFP	0	.	GRCh38	chr11	119127087	119127087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagcacctgcatggctctgGggaggaggaggaagaggaag	11	4	19	7	0	1	1	0	0	1	1	1	6	1	6	1	7	2	4	1	7	2	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.143G>T	p.Gly48Val	p.G48V	ENST00000350777	2/10	186	165	21	185	185	0	strelka-varscan-mutect	HINFP,missense_variant,p.Gly48Val,ENST00000350777,NM_198971.2,NM_015517.4;HINFP,missense_variant,p.Gly48Val,ENST00000527410,NM_001243259.1;HINFP,missense_variant,p.Gly48Val,ENST00000530678,;HINFP,missense_variant,p.Gly48Val,ENST00000529988,;HINFP,non_coding_transcript_exon_variant,,ENST00000532312,;HINFP,intron_variant,,ENST00000527354,;HINFP,non_coding_transcript_exon_variant,,ENST00000529354,;HINFP,non_coding_transcript_exon_variant,,ENST00000527206,;HINFP,intron_variant,,ENST00000531360,;HINFP,upstream_gene_variant,,ENST00000527755,;HINFP,upstream_gene_variant,,ENST00000531022,;HINFP,upstream_gene_variant,,ENST00000529808,;HINFP,upstream_gene_variant,,ENST00000529610,;	T	ENST00000350777	Transcript	missense_variant	206/3163	143/1554	48/517	G/V	gGg/gTg		1		1	HINFP	HGNC	HGNC:17850	protein_coding	YES	CCDS8414.1	ENSP00000318085	Q9BQA5	A0A024R3F5	UPI000013EB5D	NM_198971.2,NM_015517.4	tolerated(0.1)		2/10		hmmpanther:PTHR24391																	MODERATE	1	SNV	1			1										PASS		rs1416138554	.												T	3	4	10	119127087	119127087	G	T	1	0	0	0	0	1	0	0	0	6998	1232	43	2		2	HINFP	11	119127087	Missense_Mutation	SNP	G	C3L-00095_TP	12877	119127087	15959535	516	3897											
USP2	0	.	GRCh38	chr11	119356922	119356922	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggacatgggagtgacGctgcggagagagcggggagt	9	5	21	6	3	0	2	0	1	0	1	0	8	0	7	0	6	2	1	0	6	0	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1731C>G	p.Ser577Arg	p.S577R	ENST00000260187	13/13	256	238	18	320	320	0	strelka-varscan-mutect	USP2,missense_variant,p.Ser577Arg,ENST00000260187,NM_004205.4;USP2,missense_variant,p.Ser334Arg,ENST00000455332,NM_001243759.1;USP2,missense_variant,p.Ser368Arg,ENST00000525735,NM_171997.2;USP2,downstream_gene_variant,,ENST00000525189,;USP2,downstream_gene_variant,,ENST00000532613,;	C	ENST00000260187	Transcript	missense_variant,splice_region_variant	2026/3732	1731/1818	577/605	S/R	agC/agG		1		-1	USP2	HGNC	HGNC:12618	protein_coding	YES	CCDS8422.1	ENSP00000260187	O75604		UPI00001379D8	NM_004205.4	tolerated(1)		13/13		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF454,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		rs1168146217	.												C	3	2	10	119356922	119356922	G	C	1	0	0	0	0	1	0	0	0	17592	1101	38	4		4	USP2	11	119356922	Missense_Mutation	SNP	G	C3L-00095_TP	229835	119356922	15729700	517	3898											
GRIK4	0	.	GRCh38	chr11	120819850	120819850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagcaacactgacatcagCgtggctgtagctgggatcct	9	8	11	13	1	1	1	1	1	0	0	2	2	2	2	2	2	4	4	2	2	2	1			C3L-00095_TP	C3L-00095_NB	C	C																c.441C>A	p.Ser147Arg	p.S147R	ENST00000527524	6/21	262	243	19	342	341	1	strelka-varscan-mutect	GRIK4,missense_variant,p.Ser147Arg,ENST00000527524,NM_014619.4;GRIK4,missense_variant,p.Ser147Arg,ENST00000438375,NM_001282473.2,NM_001282470.2;GRIK4,downstream_gene_variant,,ENST00000526536,;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;	A	ENST00000527524	Transcript	missense_variant	728/5802	441/2871	147/956	S/R	agC/agA	COSM923970	1		1	GRIK4	HGNC	HGNC:4582	protein_coding	YES	CCDS8433.1	ENSP00000435648	Q16099		UPI000013DB8D	NM_014619.4	deleterious(0)		6/21		hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822											1						MODERATE	1	SNV	2		1	1										PASS		rs1458696523	.												A	3	1	10	120819850	120819850	C	A	1	0	0	0	0	1	0	0	0	6658	767	27	1		1	GRIK4	11	120819850	Missense_Mutation	SNP	C	C3L-00095_TP	1462928	120819850	14266772	518	3899											
GRIK4	0	.	GRCh38	chr11	120905428	120905428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatccgcctggttggggatGgcgtgtacggcgttcccgag	5	9	17	10	5	0	1	0	0	0	1	2	3	2	2	3	5	1	3	3	5	1	3			C3L-00095_TP	C3L-00095_NB	G	G																c.1411G>T	p.Gly471Cys	p.G471C	ENST00000527524	13/21	398	365	33	520	520	0	strelka-varscan-mutect	GRIK4,missense_variant,p.Gly471Cys,ENST00000527524,NM_014619.4;GRIK4,missense_variant,p.Gly471Cys,ENST00000438375,NM_001282473.2,NM_001282470.2;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;	T	ENST00000527524	Transcript	missense_variant	1698/5802	1411/2871	471/956	G/C	Ggc/Tgc	COSM3444282	1		1	GRIK4	HGNC	HGNC:4582	protein_coding	YES	CCDS8433.1	ENSP00000435648	Q16099		UPI000013DB8D	NM_014619.4	deleterious(0)		13/21		hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966,Gene3D:3.40.190.10,Pfam_domain:PF10613,SMART_domains:SM00918,SMART_domains:SM00079,Superfamily_domains:SSF53850,Prints_domain:PR00177											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	10	120905428	120905428	G	T	1	0	0	0	0	1	0	0	0	6658	1348	47	2		2	GRIK4	11	120905428	Missense_Mutation	SNP	G	C3L-00095_TP	85578	120905428	14181194	519	3900											
GRAMD1B	0	.	GRCh38	chr11	123613615	123613615	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgagcccggtcaccacGcccacagatgaggatgtggg	9	6	15	11	2	1	4	1	3	0	1	1	5	1	5	3	3	1	0	3	3	0	0			C3L-00095_TP	C3L-00095_NB	G	G																c.1776G>T	p.=	p.T592T	ENST00000456860	16/21	173	153	20	233	233	0	strelka-varscan-mutect	GRAMD1B,synonymous_variant,p.=,ENST00000529750,NM_020716.2;GRAMD1B,synonymous_variant,p.=,ENST00000529432,NM_001286564.1;GRAMD1B,synonymous_variant,p.=,ENST00000638157,;GRAMD1B,synonymous_variant,p.=,ENST00000635736,;GRAMD1B,synonymous_variant,p.=,ENST00000456860,NM_001286563.1;GRAMD1B,synonymous_variant,p.=,ENST00000638086,;GRAMD1B,synonymous_variant,p.=,ENST00000322282,;GRAMD1B,synonymous_variant,p.=,ENST00000450171,;GRAMD1B,downstream_gene_variant,,ENST00000534764,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000525945,;	T	ENST00000456860	Transcript	synonymous_variant	2289/2805	1776/2238	592/745	T	acG/acT	COSM4018822,COSM4018823	1		1	GRAMD1B	HGNC	HGNC:29214	protein_coding	YES	CCDS66253.1	ENSP00000402457	Q3KR37		UPI000023753E	NM_001286563.1			16/21		hmmpanther:PTHR23319:SF3,hmmpanther:PTHR23319											1,1						LOW	1	SNV	2		1,1	1										PASS		rs1351653711	.												T	2	4	10	123613615	123613615	G	T	1	0	0	0	0	0	0	0	1	6627	1074	38	1		1	GRAMD1B	11	123613615	Silent	SNP	G	C3L-00095_TP	2708187	123613615	11473007	520	3901											
OR6X1	0	.	GRCh38	chr11	123753960	123753960	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatgctggtgtctatgcAggcggctttcaaactgggcc	9	10	12	10	1	2	0	1	0	1	0	2	0	2	0	1	4	3	3	1	4	4	2	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.559T>C	p.Cys187Arg	p.C187R	ENST00000327930	1/1	191	178	13	254	254	0	strelka-varscan-mutect	OR6X1,missense_variant,p.Cys187Arg,ENST00000327930,NM_001005188.1;	G	ENST00000327930	Transcript	missense_variant	586/1058	559/939	187/312	C/R	Tgc/Cgc		1		-1	OR6X1	HGNC	HGNC:14737	protein_coding	YES	CCDS31695.1	ENSP00000333724	Q8NH79	A0A126GVM0	UPI000004B1D5	NM_001005188.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF30,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	10	123753960	123753960	A	G	1	0	0	0	0	1	0	0	0	11282	188	7	5		5	OR6X1	11	123753960	Missense_Mutation	SNP	A	C3L-00095_TP	140345	123753960	11332662	521	3902											
OR8B2	0	.	GRCh38	chr11	124382730	124382730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgggtaccgtgatattaGtacccacaacaatgagaaca	16	8	8	9	1	0	2	0	2	0	1	0	3	0	2	2	1	5	2	2	1	8	4	rs470625		C3L-00095_TP	C3L-00095_NB	G	G																c.614C>A	p.Thr205Asn	p.T205N	ENST00000375013	1/1	195	182	13	232	232	0	varscan-mutect	OR8B2,missense_variant,p.Thr205Asn,ENST00000375013,NM_001005468.1;OR8C1P,upstream_gene_variant,,ENST00000427511,;	T	ENST00000375013	Transcript	missense_variant	633/968	614/942	205/313	T/N	aCt/aAt	rs470625	1		-1	OR8B2	HGNC	HGNC:8471	protein_coding	YES	CCDS31708.1	ENSP00000364152	Q96RD0	A0A126GVQ4	UPI000004B1E5	NM_001005468.1	deleterious_low_confidence(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF258,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs470625	.												T	3	4	10	124382730	124382730	G	T	1	0	0	0	0	1	0	0	0	11297	1029	36	2		2	OR8B2	11	124382730	Missense_Mutation	SNP	G	C3L-00095_TP	628770	124382730	10703892	522	3903											
ROBO3	0	.	GRCh38	chr11	124865595	124865595	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgctgcgctacctgctGaaaacgctgctgcagatgaa	10	8	11	12	2	0	3	0	2	0	1	0	3	0	3	2	0	7	6	2	0	4	1			C3L-00095_TP	C3L-00095_NB	G	G																c.18G>T	p.=	p.L6L	ENST00000397801	1/28	171	149	22	193	193	0	strelka-varscan-mutect	ROBO3,synonymous_variant,p.=,ENST00000397801,NM_022370.3;ROBO3,upstream_gene_variant,,ENST00000538940,;	T	ENST00000397801	Transcript	synonymous_variant	210/4569	18/4161	6/1386	L	ctG/ctT	COSM4722359,COSM4722360	1		1	ROBO3	HGNC	HGNC:13433	protein_coding	YES	CCDS44755.1	ENSP00000380903	Q96MS0		UPI000035AA82	NM_022370.3			1/28		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF724,Cleavage_site_(Signalp):SignalP-noTM											1,1						LOW	1	SNV	1		1,1	1										PASS		rs945854353	.												T	2	4	10	124865595	124865595	G	T	1	0	0	0	0	0	0	0	1	13693	1277	45	2		2	ROBO3	11	124865595	Silent	SNP	G	C3L-00095_TP	482865	124865595	10221027	523	3904											
HEPN1	0	.	GRCh38	chr11	124919907	124919907	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctttttaattgccctcTctcctcacacagtagattac	9	15	4	13	0	3	1	2	0	1	1	5	1	4	1	2	0	3	2	2	0	3	6	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.157T>C	p.Ser53Pro	p.S53P	ENST00000408930	1/1	319	298	21	398	398	0	strelka-varscan-mutect	HEPN1,missense_variant,p.Ser53Pro,ENST00000408930,NM_001037558.2;HEPACAM,3_prime_UTR_variant,,ENST00000298251,NM_152722.4;HEPACAM,downstream_gene_variant,,ENST00000528971,;HEPACAM,downstream_gene_variant,,ENST00000526273,;	C	ENST00000408930	Transcript	missense_variant	664/1434	157/267	53/88	S/P	Tct/Cct		1		1	HEPN1	HGNC	HGNC:34400	protein_coding	YES	CCDS41729.1	ENSP00000386143	Q6WQI6		UPI0000D6269C	NM_001037558.2	deleterious_low_confidence(0.01)		1/1																			MODERATE		SNV				1										PASS		.	.												C	3	2	10	124919907	124919907	T	C	1	0	0	0	0	1	0	0	0	6940	1551	54	5		5	HEPN1	11	124919907	Missense_Mutation	SNP	T	C3L-00095_TP	54312	124919907	10166715	524	3905											
STT3A	0	.	GRCh38	chr11	125602927	125602927	+	Frame_Shift_Del	DEL	C	C	-																															ttcaccaccatcgtcacgtaCcaccttaccaaagagctcaa																								novel		C3L-00095_TP	C3L-00095_NB	C	C																c.397delC	p.His133ThrfsTer18	p.H133Tfs*18	ENST00000392708	5/18	238	218	20	279	278	1	sindel-varindel-pindel	STT3A,frameshift_variant,p.His133ThrfsTer18,ENST00000392708,NM_152713.4,NM_001278503.1;STT3A,frameshift_variant,p.His133ThrfsTer18,ENST00000529196,;STT3A,frameshift_variant,p.His41ThrfsTer18,ENST00000531491,NM_001278504.1;STT3A,downstream_gene_variant,,ENST00000525652,;STT3A,upstream_gene_variant,,ENST00000526726,;STT3A,downstream_gene_variant,,ENST00000527606,;STT3A,downstream_gene_variant,,ENST00000529886,;STT3A,upstream_gene_variant,,ENST00000527456,;STT3A,non_coding_transcript_exon_variant,,ENST00000534472,;STT3A,non_coding_transcript_exon_variant,,ENST00000526213,;STT3A,upstream_gene_variant,,ENST00000525431,;	-	ENST00000392708	Transcript	frameshift_variant	555/4558	396/2118	132/705	Y/X	taC/ta		1		1	STT3A	HGNC	HGNC:6172	protein_coding	YES	CCDS8458.1	ENSP00000376472	P46977		UPI0000071627	NM_152713.4,NM_001278503.1			5/18		Pfam_domain:PF02516,hmmpanther:PTHR13872,hmmpanther:PTHR13872:SF26																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	10	125602927	125602927	C	-	1	0	1	0	1	0	0	0	0	15716	518	18	0		0	STT3A	11	125602927	Frame_Shift_Del	DEL	C	C3L-00095_TP	683020	125602927	9483695	525	3906											
KIRREL3	0	.	GRCh38	chr11	126463233	126463233	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacgacacacgatgctctgGccattctccacgtcaccagg	9	7	9	16	3	3	0	1	0	2	0	4	2	3	0	3	2	1	2	3	2	0	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.666C>A	p.=	p.G222G	ENST00000525144	6/17	98	93	5	134	134	0	strelka-varscan-mutect	KIRREL3,synonymous_variant,p.=,ENST00000525144,NM_032531.3;KIRREL3,synonymous_variant,p.=,ENST00000529097,NM_001301097.1;KIRREL3,synonymous_variant,p.=,ENST00000525704,NM_001161707.1;	T	ENST00000525144	Transcript	synonymous_variant	916/3808	666/2337	222/778	G	ggC/ggA		1		-1	KIRREL3	HGNC	HGNC:23204	protein_coding	YES	CCDS53723.1	ENSP00000435466	Q8IZU9		UPI00000740A0	NM_032531.3			6/17		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF49,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	126463233	126463233	G	T	1	0	0	0	0	0	0	0	1	8190	1190	42	2		2	KIRREL3	11	126463233	Silent	SNP	G	C3L-00095_TP	860306	126463233	8623389	526	3907											
IGSF9B	0	.	GRCh38	chr11	133944295	133944295	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgagcactttgcactCataccagccctggtcctcag	9	9	8	15	0	2	1	2	1	0	0	3	1	3	1	3	1	5	3	3	1	1	2	rs756264444		C3L-00095_TP	C3L-00095_NB	C	C																c.334G>T	p.Glu112Ter	p.E112*	ENST00000533871	3/20	193	183	10	227	226	1	strelka-varscan-mutect	IGSF9B,stop_gained,p.Glu112Ter,ENST00000533871,NM_001277285.1;IGSF9B,stop_gained,p.Glu112Ter,ENST00000321016,;IGSF9B,stop_gained,p.Glu102Ter,ENST00000533160,;IGSF9B,stop_gained,p.Glu159Ter,ENST00000526663,;	A	ENST00000533871	Transcript	stop_gained	565/5050	334/4314	112/1437	E/*	Gag/Tag	rs756264444	1		-1	IGSF9B	HGNC	HGNC:32326	protein_coding	YES	CCDS61010.1	ENSP00000436552	Q9UPX0		UPI0002C439DB	NM_001277285.1			3/20		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF681,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	SNV	5			1										PASS		rs756264444	.												A	4	1	10	133944295	133944295	C	A	1	0	0	0	0	0	1	0	0	7514	835	29	2		2	IGSF9B	11	133944295	Nonsense_Mutation	SNP	C	C3L-00095_TP	7481062	133944295	1142327	527	3908											
KDM5A	0	.	GRCh38	chr12	295655	295655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgttgagtctcgtccagaGatacttccaggagatctcca	9	12	10	10	1	2	3	0	1	2	2	6	5	4	3	3	1	1	1	3	1	1	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.4373C>T	p.Ser1458Phe	p.S1458F	ENST00000399788	26/28	376	349	27	530	530	0	strelka-varscan-mutect	KDM5A,missense_variant,p.Ser1458Phe,ENST00000399788,NM_001042603.2;KDM5A,upstream_gene_variant,,ENST00000540838,;	A	ENST00000399788	Transcript	missense_variant	4736/10763	4373/5073	1458/1690	S/F	tCt/tTt		1		-1	KDM5A	HGNC	HGNC:9886	protein_coding	YES	CCDS41736.1	ENSP00000382688	P29375		UPI0000DB2E73	NM_001042603.2	deleterious(0.01)		26/28		hmmpanther:PTHR10694:SF17,hmmpanther:PTHR10694																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	295655	295655	G	A	1	0	0	0	0	1	0	0	0	8051	942	33	3		3	KDM5A	12	295655	Missense_Mutation	SNP	G	C3L-00095_TP		295655	132979654	528	3909											
CACNA1C	0	.	GRCh38	chr12	2449069	2449069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcaccccaatgcctacCtccgcaacggctggaaccta	9	9	6	17	2	2	0	1	0	1	0	3	1	3	1	6	2	4	2	6	2	5	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.571C>A	p.Leu191Ile	p.L191I	ENST00000347598	4/49	102	95	7	148	147	1	strelka-varscan-mutect	CACNA1C,missense_variant,p.Leu191Ile,ENST00000399655,NM_000719.6;CACNA1C,missense_variant,p.Leu191Ile,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Leu191Ile,ENST00000406454,;CACNA1C,missense_variant,p.Leu191Ile,ENST00000399617,NM_001167624.2;CACNA1C,missense_variant,p.Leu191Ile,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Leu191Ile,ENST00000335762,;CACNA1C,missense_variant,p.Leu191Ile,ENST00000480911,;CACNA1C,missense_variant,p.Leu191Ile,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,missense_variant,p.Leu191Ile,ENST00000344100,NM_001129829.1;CACNA1C,missense_variant,p.Leu191Ile,ENST00000327702,NM_001129830.2;CACNA1C,missense_variant,p.Leu191Ile,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Leu191Ile,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Leu191Ile,ENST00000399621,NM_001129834.1;CACNA1C,missense_variant,p.Leu191Ile,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Leu191Ile,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Leu191Ile,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Leu191Ile,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,missense_variant,p.Leu191Ile,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Leu191Ile,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Leu191Ile,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,missense_variant,p.Leu191Ile,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Leu191Ile,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Leu191Ile,ENST00000399644,NM_001129841.1;	A	ENST00000347598	Transcript	missense_variant	571/6655	571/6561	191/2186	L/I	Ctc/Atc		1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3	tolerated(0.29)		4/49		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	2449069	2449069	C	A	1	0	0	0	0	1	0	0	0	2228	681	24	2		2	CACNA1C	12	2449069	Missense_Mutation	SNP	C	C3L-00095_TP	2153414	2449069	130826240	529	3910											
CACNA1C	0	.	GRCh38	chr12	2651702	2651702	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccgggtcatgcgtctGgtgaagctgctgagccgtgg	4	11	16	10	3	2	2	1	2	1	0	3	2	3	2	2	3	4	3	2	3	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.4152G>T	p.=	p.L1384L	ENST00000347598	34/49	93	86	7	91	91	0	strelka-mutect	CACNA1C,synonymous_variant,p.=,ENST00000399655,NM_000719.6;CACNA1C,synonymous_variant,p.=,ENST00000399634,NM_001167625.1;CACNA1C,synonymous_variant,p.=,ENST00000406454,;CACNA1C,synonymous_variant,p.=,ENST00000399617,NM_001167624.2;CACNA1C,synonymous_variant,p.=,ENST00000399603,NM_001167623.1;CACNA1C,synonymous_variant,p.=,ENST00000335762,;CACNA1C,synonymous_variant,p.=,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,synonymous_variant,p.=,ENST00000344100,NM_001129829.1;CACNA1C,synonymous_variant,p.=,ENST00000327702,NM_001129830.2;CACNA1C,synonymous_variant,p.=,ENST00000399638,NM_001129831.1;CACNA1C,synonymous_variant,p.=,ENST00000399606,NM_001129832.1;CACNA1C,synonymous_variant,p.=,ENST00000399621,NM_001129834.1;CACNA1C,synonymous_variant,p.=,ENST00000399637,NM_001129835.1;CACNA1C,synonymous_variant,p.=,ENST00000402845,NM_001129833.1;CACNA1C,synonymous_variant,p.=,ENST00000399629,NM_001129836.1;CACNA1C,synonymous_variant,p.=,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,synonymous_variant,p.=,ENST00000399595,NM_001129837.1;CACNA1C,synonymous_variant,p.=,ENST00000399649,NM_001129839.1;CACNA1C,synonymous_variant,p.=,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,synonymous_variant,p.=,ENST00000399601,NM_001129843.1;CACNA1C,synonymous_variant,p.=,ENST00000399641,NM_001129840.1;CACNA1C,synonymous_variant,p.=,ENST00000399644,NM_001129841.1;CACNA1C,synonymous_variant,p.=,ENST00000616390,;CACNA1C,non_coding_transcript_exon_variant,,ENST00000483136,;CACNA1C,non_coding_transcript_exon_variant,,ENST00000492150,;	T	ENST00000347598	Transcript	synonymous_variant	4152/6655	4152/6561	1384/2186	L	ctG/ctT		1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3			34/49		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Superfamily_domains:SSF81324																	LOW	1	SNV	1			1										PASS		rs1396500469	.												T	2	4	10	2651702	2651702	G	T	1	0	0	0	0	0	0	0	1	2228	1335	47	2		2	CACNA1C	12	2651702	Silent	SNP	G	C3L-00095_TP	202633	2651702	130623607	530	3911											
NTF3	0	.	GRCh38	chr12	5494245	5494245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttatgtgatatttctcGcttatctccgtggcatccaa	7	18	7	9	2	2	1	0	1	2	0	5	1	3	1	2	1	0	3	2	1	4	5			C3L-00095_TP	C3L-00095_NB	G	G																c.70G>A	p.Ala24Thr	p.A24T	ENST00000423158	2/2	194	162	32	195	195	0	strelka-varscan-mutect	NTF3,missense_variant,p.Ala24Thr,ENST00000423158,NM_001102654.1;NTF3,missense_variant,p.Ala11Thr,ENST00000331010,NM_002527.4;NTF3,non_coding_transcript_exon_variant,,ENST00000543548,;NTF3,intron_variant,,ENST00000535299,;	A	ENST00000423158	Transcript	missense_variant	282/1336	70/813	24/270	A/T	Gct/Act	COSM941346	1		1	NTF3	HGNC	HGNC:8023	protein_coding	YES	CCDS44806.1	ENSP00000397297	P20783		UPI0000D4F126	NM_001102654.1	tolerated(0.09)		2/2		PIRSF_domain:PIRSF001789,Prints_domain:PR01914,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF4,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		rs954273394	.												A	3	1	10	5494245	5494245	G	A	1	0	0	0	0	1	0	0	0	10760	1087	38	1		1	NTF3	12	5494245	Missense_Mutation	SNP	G	C3L-00095_TP	2842543	5494245	127781064	531	3912											
TMEM52B	0	.	GRCh38	chr12	10186468	10186468	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctgtgtggcctgacgtcCctgtgcttccgctgctgctg	1	13	12	15	2	0	1	0	1	0	0	3	1	3	1	4	1	3	4	4	1	0	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.186C>T	p.=	p.S62S	ENST00000381923	5/6	107	95	12	139	139	0	strelka-mutect	TMEM52B,synonymous_variant,p.=,ENST00000298530,NM_153022.3;TMEM52B,synonymous_variant,p.=,ENST00000381923,NM_001079815.1;TMEM52B,synonymous_variant,p.=,ENST00000543484,;TMEM52B,non_coding_transcript_exon_variant,,ENST00000546153,;	T	ENST00000381923	Transcript	synonymous_variant	590/2601	186/552	62/183	S	tcC/tcT		1		1	TMEM52B	HGNC	HGNC:26438	protein_coding	YES	CCDS66314.1	ENSP00000371348	Q4KMG9		UPI000003777F	NM_001079815.1			5/6		Pfam_domain:PF14979,hmmpanther:PTHR33955,hmmpanther:PTHR33955:SF1,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	10	10186468	10186468	C	T	1	0	0	0	0	0	0	0	1	16654	610	22	3		3	TMEM52B	12	10186468	Silent	SNP	C	C3L-00095_TP	4692223	10186468	123088841	532	3913											
FAM234B	0	.	GRCh38	chr12	13061612	13061612	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctaatcttgtatgcctttcGgggatgaatggcagcacact	9	12	11	9	1	1	1	0	1	1	0	2	2	1	2	1	3	2	4	1	3	3	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.570G>T	p.=	p.S190S	ENST00000197268	4/13	93	84	9	112	112	0	strelka-varscan-mutect	FAM234B,synonymous_variant,p.=,ENST00000197268,NM_020853.1;FAM234B,upstream_gene_variant,,ENST00000537625,;FAM234B,upstream_gene_variant,,ENST00000535974,;FAM234B,synonymous_variant,p.=,ENST00000416494,;FAM234B,upstream_gene_variant,,ENST00000541950,;	T	ENST00000197268	Transcript	synonymous_variant	690/4808	570/1869	190/622	S	tcG/tcT		1		1	FAM234B	HGNC	HGNC:29288	protein_coding	YES	CCDS31750.1	ENSP00000197268	A2RU67		UPI00001FB6A1	NM_020853.1			4/13		hmmpanther:PTHR21419,hmmpanther:PTHR21419:SF25,Gene3D:2.140.10.10,Superfamily_domains:SSF50998																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	13061612	13061612	G	T	1	0	0	0	0	0	0	0	1	5425	1103	39	1		1	FAM234B	12	13061612	Silent	SNP	G	C3L-00095_TP	2875144	13061612	120213697	533	3914											
REP15	0	.	GRCh38	chr12	27697145	27697145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagccatctgccaggaGggaaggctgtggctcagttt	8	9	16	8	0	2	1	1	1	1	0	2	4	2	4	2	5	2	3	2	5	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.583G>T	p.Gly195Trp	p.G195W	ENST00000310791	1/1	257	235	22	285	284	1	strelka-varscan-mutect	REP15,missense_variant,p.Gly195Trp,ENST00000310791,NM_001029874.1;PPFIBP1,downstream_gene_variant,,ENST00000318304,NM_177444.2;PPFIBP1,downstream_gene_variant,,ENST00000228425,NM_003622.3;PPFIBP1,downstream_gene_variant,,ENST00000537927,NM_001198915.1;PPFIBP1,downstream_gene_variant,,ENST00000542629,NM_001198916.1;PPFIBP1,downstream_gene_variant,,ENST00000539326,;RP11-1060J15.4,non_coding_transcript_exon_variant,,ENST00000542660,;RP11-1060J15.4,intron_variant,,ENST00000536317,;RP11-1060J15.4,intron_variant,,ENST00000536922,;RP11-1060J15.9,upstream_gene_variant,,ENST00000619202,;	T	ENST00000310791	Transcript	missense_variant	627/1078	583/711	195/236	G/W	Ggg/Tgg		1		1	REP15	HGNC	HGNC:33748	protein_coding	YES	CCDS31762.1	ENSP00000310335	Q6BDI9		UPI000013F083	NM_001029874.1	deleterious(0.02)		1/1		hmmpanther:PTHR36682:SF1,hmmpanther:PTHR36682,Pfam_domain:PF15208																	MODERATE		SNV				1										PASS		.	.												T	3	4	10	27697145	27697145	G	T	1	0	0	0	0	1	0	0	0	13396	1000	35	2		2	REP15	12	27697145	Missense_Mutation	SNP	G	C3L-00095_TP	14635533	27697145	105578164	534	3915											
H3F3C	0	.	GRCh38	chr12	31791881	31791881	+	Missense_Mutation	SNP	T	T	C																															acccaccaggtacgcttcgcTagcctcctgcagcgcaccga																								novel		C3L-00095_TP	C3L-00095_NB	T	T																c.286A>G	p.Ser96Gly	p.S96G	ENST00000340398	1/1	267	239	28	372	372	0	strelka-varscan-mutect	H3F3C,missense_variant,p.Ser96Gly,ENST00000340398,NM_001013699.2;	C	ENST00000340398	Transcript	missense_variant	361/1057	286/408	96/135	S/G	Agc/Ggc		1		-1	H3F3C	HGNC	HGNC:33164	protein_coding	YES	CCDS31769.1	ENSP00000339835	Q6NXT2		UPI0000185FBF	NM_001013699.2	deleterious_low_confidence(0)		1/1		Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,SMART_domains:SM00428,Superfamily_domains:SSF47113																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	10	31791881	31791881	T	C	1	0	0	0	0	1	0	0	0	6817	1522	53	5		5	H3F3C	12	31791881	Missense_Mutation	SNP	T	C3L-00095_TP	4094736	31791881	101483428	535	3916	87	2									
H3F3C	0	.	GRCh38	chr12	31791883	31791883	+	Missense_Mutation	SNP	G	G	A																															ccaccaggtacgcttcgctaGcctcctgcagcgcaccgacg																								rs754924469		C3L-00095_TP	C3L-00095_NB	G	G																c.284C>T	p.Ala95Val	p.A95V	ENST00000340398	1/1	264	237	27	374	374	0	strelka-varscan-mutect	H3F3C,missense_variant,p.Ala95Val,ENST00000340398,NM_001013699.2;	A	ENST00000340398	Transcript	missense_variant	359/1057	284/408	95/135	A/V	gCt/gTt	rs754924469	1		-1	H3F3C	HGNC	HGNC:33164	protein_coding	YES	CCDS31769.1	ENSP00000339835	Q6NXT2		UPI0000185FBF	NM_001013699.2	deleterious_low_confidence(0.01)		1/1		Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,SMART_domains:SM00428,Superfamily_domains:SSF47113																	MODERATE	1	SNV				1										PASS		rs754924469	.												A	3	1	10	31791883	31791883	G	A	1	0	0	0	0	1	0	0	0	6817	971	34	3		3	H3F3C	12	31791883	Missense_Mutation	SNP	G	C3L-00095_TP	2	31791883	101483426	536	3917	87	2									
BICD1	0	.	GRCh38	chr12	32327610	32327610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggcctgcaaagcagcaaGgagctcaaggctgagctgga	12	4	16	9	0	1	1	1	1	0	0	1	3	1	3	1	5	5	6	1	5	3	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1155G>T	p.Lys385Asn	p.K385N	ENST00000281474	5/10	156	148	8	218	218	0	strelka-varscan-mutect	BICD1,missense_variant,p.Lys385Asn,ENST00000548411,NM_001003398.1;BICD1,missense_variant,p.Lys385Asn,ENST00000281474,NM_001714.2;BICD1,upstream_gene_variant,,ENST00000547680,;BICD1,missense_variant,p.Lys385Asn,ENST00000395758,;	T	ENST00000281474	Transcript	missense_variant	1258/3281	1155/2928	385/975	K/N	aaG/aaT		1		1	BICD1	HGNC	HGNC:1049	protein_coding	YES	CCDS8726.1	ENSP00000281474	Q96G01		UPI00001AEA67	NM_001714.2	tolerated(0.09)		5/10		hmmpanther:PTHR31233,hmmpanther:PTHR31233:SF3,Pfam_domain:PF09730																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	32327610	32327610	G	T	1	0	0	0	0	1	0	0	0	1577	991	35	2		2	BICD1	12	32327610	Missense_Mutation	SNP	G	C3L-00095_TP	535727	32327610	100947699	537	3918											
PDZRN4	0	.	GRCh38	chr12	41194095	41194095	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatagaataatcaggaaggAacatcgactgaaggaattta	20	8	9	4	1	1	2	1	1	0	1	2	6	1	5	0	3	1	0	0	3	9	4	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.750A>T	p.=	p.G250G	ENST00000402685	3/10	190	173	17	186	186	0	strelka-varscan-mutect	PDZRN4,synonymous_variant,p.=,ENST00000402685,NM_001164595.1;	T	ENST00000402685	Transcript	synonymous_variant	758/3347	750/3111	250/1036	G	ggA/ggT		1		1	PDZRN4	HGNC	HGNC:30552	protein_coding	YES	CCDS53777.1	ENSP00000384197	Q6ZMN7		UPI0000D621D0	NM_001164595.1			3/10		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,SMART_domains:SM00228,Superfamily_domains:SSF50156																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	10	41194095	41194095	A	T	1	0	0	0	0	0	0	0	1	11798	233	9	4		4	PDZRN4	12	41194095	Silent	SNP	A	C3L-00095_TP	8866485	41194095	92081214	538	3919											
ADAMTS20	0	.	GRCh38	chr12	43551029	43551029	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcccaggccccgcgctccggGgttcccaagtgcacctcggt	4	7	12	18	4	0	0	0	0	0	0	4	0	3	0	6	4	1	3	6	4	1	1	rs779415291		C3L-00095_TP	C3L-00095_NB	G	G																c.333C>T	p.=	p.T111T	ENST00000389420	2/39	194	180	14	266	266	0	strelka-mutect	ADAMTS20,synonymous_variant,p.=,ENST00000389420,NM_025003.3;ADAMTS20,synonymous_variant,p.=,ENST00000395541,;ADAMTS20,synonymous_variant,p.=,ENST00000553158,;	A	ENST00000389420	Transcript	synonymous_variant	333/6076	333/5733	111/1910	T	acC/acT	rs779415291	1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3			2/39		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF01562																	LOW	1	SNV	1			1										PASS		rs779415291	.												A	2	1	10	43551029	43551029	G	A	1	0	0	0	0	0	0	0	1	310	1219	43	3		3	ADAMTS20	12	43551029	Silent	SNP	G	C3L-00095_TP	2356934	43551029	89724280	539	3920											
KRT71	0	.	GRCh38	chr12	52550094	52550094	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtccagcctcaccctgtcCccagacagcgtctccagctg	7	7	9	18	1	2	1	1	0	1	1	5	2	4	1	6	0	3	1	6	0	0	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.591G>C	p.=	p.G197G	ENST00000267119	2/9	339	313	26	493	492	1	varscan-mutect	KRT71,synonymous_variant,p.=,ENST00000267119,NM_033448.2;	G	ENST00000267119	Transcript	synonymous_variant	661/2265	591/1572	197/523	G	ggG/ggC		1		-1	KRT71	HGNC	HGNC:28927	protein_coding	YES	CCDS8831.1	ENSP00000267119	Q3SY84		UPI0000052B57	NM_033448.2			2/9		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF116,SMART_domains:SM01391,Superfamily_domains:SSF64593																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	10	52550094	52550094	C	G	1	0	0	0	0	0	0	0	1	8366	610	22	4		4	KRT71	12	52550094	Silent	SNP	C	C3L-00095_TP	8999065	52550094	80725215	540	3921											
KRT3	0	.	GRCh38	chr12	52791312	52791312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtagcagccgcgccaggtCatccttcgcctgctgtagag	7	8	12	14	4	1	1	1	0	0	1	3	1	2	1	4	1	3	4	4	1	2	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1429G>A	p.Asp477Asn	p.D477N	ENST00000417996	7/9	281	254	27	375	374	1	strelka-varscan-mutect	KRT3,missense_variant,p.Asp477Asn,ENST00000417996,NM_057088.2;	T	ENST00000417996	Transcript	missense_variant	1504/2319	1429/1887	477/628	D/N	Gac/Aac		1		-1	KRT3	HGNC	HGNC:6440	protein_coding	YES	CCDS44895.1	ENSP00000413479	P12035		UPI000013EEC8	NM_057088.2	deleterious(0.02)		7/9		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF140,Low_complexity_(Seg):seg,SMART_domains:SM01391,Superfamily_domains:SSF64593																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	52791312	52791312	C	T	1	0	0	0	0	1	0	0	0	8348	826	29	3		3	KRT3	12	52791312	Missense_Mutation	SNP	C	C3L-00095_TP	241218	52791312	80483997	541	3922											
MMP19	0	.	GRCh38	chr12	55838516	55838516	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taacctccattgctcatgctGaagtcccatgtcactcccat	9	12	5	15	0	2	1	2	1	0	0	5	1	5	1	4	0	3	2	4	0	2	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.739C>T	p.Gln247Ter	p.Q247*	ENST00000409200	5/7	387	357	30	512	512	0	strelka-varscan-mutect	MMP19,stop_gained,p.Gln247Ter,ENST00000409200,NM_001272101.1;MMP19,intron_variant,,ENST00000322569,NM_002429.5;MMP19,intron_variant,,ENST00000548629,;TMEM198B,downstream_gene_variant,,ENST00000478241,;TMEM198B,downstream_gene_variant,,ENST00000508246,;TMEM198B,downstream_gene_variant,,ENST00000482378,;TMEM198B,downstream_gene_variant,,ENST00000471276,;TMEM198B,downstream_gene_variant,,ENST00000487582,;TMEM198B,downstream_gene_variant,,ENST00000636428,;TMEM198B,downstream_gene_variant,,ENST00000636659,;TMEM198B,downstream_gene_variant,,ENST00000635938,;TMEM198B,downstream_gene_variant,,ENST00000637783,;TMEM198B,downstream_gene_variant,,ENST00000637951,;MMP19,downstream_gene_variant,,ENST00000547487,;TMEM198B,downstream_gene_variant,,ENST00000637092,;TMEM198B,downstream_gene_variant,,ENST00000637087,;MMP19,downstream_gene_variant,,ENST00000547299,;MMP19,3_prime_UTR_variant,,ENST00000548882,;MMP19,3_prime_UTR_variant,,ENST00000552872,;MMP19,3_prime_UTR_variant,,ENST00000552763,;MMP19,non_coding_transcript_exon_variant,,ENST00000547685,;TMEM198B,downstream_gene_variant,,ENST00000484016,;	A	ENST00000409200	Transcript	stop_gained	845/1431	739/918	247/305	Q/*	Cag/Tag		1		-1	MMP19	HGNC	HGNC:7165	protein_coding		CCDS61146.1	ENSP00000386625	Q99542		UPI00017A8387	NM_001272101.1			5/7		SMART_domains:SM00235																	HIGH		SNV	2			1										PASS		.	.												A	4	1	10	55838516	55838516	G	A	1	0	0	0	0	0	1	0	0	9620	1299	45	3		3	MMP19	12	55838516	Nonsense_Mutation	SNP	G	C3L-00095_TP	3047204	55838516	77436793	542	3923											
MMP19	0	.	GRCh38	chr12	55840821	55840821	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggctgcccgggctgtgtgGggtggaagggtggagggcag	5	6	24	6	1	0	0	0	0	0	0	0	2	0	2	1	8	1	3	1	8	1	0	rs772008075		C3L-00095_TP	C3L-00095_NB	G	G																c.366C>A	p.=	p.P122P	ENST00000322569	4/9	102	91	11	151	150	1	strelka-varscan-mutect	MMP19,splice_region_variant,,ENST00000548629,;MMP19,synonymous_variant,p.=,ENST00000322569,NM_002429.5;MMP19,synonymous_variant,p.=,ENST00000409200,NM_001272101.1;TMEM198B,downstream_gene_variant,,ENST00000478241,;TMEM198B,downstream_gene_variant,,ENST00000508246,;TMEM198B,downstream_gene_variant,,ENST00000482378,;TMEM198B,downstream_gene_variant,,ENST00000471276,;TMEM198B,downstream_gene_variant,,ENST00000487582,;MMP19,downstream_gene_variant,,ENST00000547487,;MMP19,downstream_gene_variant,,ENST00000547299,;MMP19,missense_variant,p.Pro79Thr,ENST00000552763,;MMP19,3_prime_UTR_variant,,ENST00000552872,;MMP19,intron_variant,,ENST00000548882,;MMP19,upstream_gene_variant,,ENST00000547685,;	T	ENST00000322569	Transcript	synonymous_variant	458/2229	366/1527	122/508	P	ccC/ccA	rs772008075	1		-1	MMP19	HGNC	HGNC:7165	protein_coding	YES	CCDS8895.1	ENSP00000313437	Q99542		UPI0000030AE6	NM_002429.5			4/9		hmmpanther:PTHR10201:SF158,hmmpanther:PTHR10201,PIRSF_domain:PIRSF001191,Pfam_domain:PF00413,Gene3D:3.40.390.10,SMART_domains:SM00235,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		rs772008075	.												T	2	4	10	55840821	55840821	G	T	1	0	0	0	0	0	0	0	1	9620	1219	43	2		2	MMP19	12	55840821	Silent	SNP	G	C3L-00095_TP	2305	55840821	77434488	543	3924											
DPY19L2	0	.	GRCh38	chr12	63626475	63626475	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagaaaacaaacctctccAtggttgaaaaagaagcacag	18	7	7	9	0	2	3	0	1	2	2	3	3	2	3	2	1	3	2	2	1	7	2	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.855T>C	p.=	p.H285H	ENST00000324472	7/22	150	142	8	87	87	0	varscan-mutect	DPY19L2,synonymous_variant,p.=,ENST00000324472,NM_173812.4;RP11-415I12.3,intron_variant,,ENST00000509615,;DPY19L2,3_prime_UTR_variant,,ENST00000306389,;	G	ENST00000324472	Transcript	synonymous_variant	1039/4060	855/2277	285/758	H	caT/caC		1		-1	DPY19L2	HGNC	HGNC:19414	protein_coding	YES	CCDS31851.1	ENSP00000315988	Q6NUT2		UPI000006EC0C	NM_173812.4			7/22		Pfam_domain:PF10034,hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF6,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	10	63626475	63626475	A	G	1	0	0	0	0	0	0	0	1	4556	214	8	5		5	DPY19L2	12	63626475	Silent	SNP	A	C3L-00095_TP	7785654	63626475	69648834	544	3925											
PTPRB	0	.	GRCh38	chr12	70569783	70569783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaacgtgtgctcaaagaCgtgcttgggaatagtctgag	10	10	15	6	2	2	2	1	1	1	1	2	4	2	4	0	2	3	2	0	2	4	2	rs527418611		C3L-00095_TP	C3L-00095_NB	C	C																c.3526G>A	p.Val1176Ile	p.V1176I	ENST00000334414	14/34	597	559	38	690	690	0	strelka-varscan-mutect	PTPRB,missense_variant,p.Val1176Ile,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Val1088Ile,ENST00000550358,;PTPRB,missense_variant,p.Val958Ile,ENST00000261266,NM_002837.4;PTPRB,missense_variant,p.Val958Ile,ENST00000538708,NM_001206972.1;PTPRB,missense_variant,p.Val868Ile,ENST00000550857,NM_001206971.1;PTPRB,missense_variant,p.Val1175Ile,ENST00000551525,;PTPRB,missense_variant,p.Val1055Ile,ENST00000548122,;RP11-785D18.3,upstream_gene_variant,,ENST00000615051,;	T	ENST00000334414	Transcript	missense_variant	3571/12316	3526/6648	1176/2215	V/I	Gtc/Atc	rs527418611	1		-1	PTPRB	HGNC	HGNC:9665	protein_coding	YES	CCDS44943.1	ENSP00000334928	P23467		UPI00002294FA	NM_001109754.2	tolerated(0.49)		14/34		PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF288,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs527418611	.												T	3	4	10	70569783	70569783	C	T	1	0	0	0	0	1	0	0	0	12950	536	19	1		1	PTPRB	12	70569783	Missense_Mutation	SNP	C	C3L-00095_TP	6943308	70569783	62705526	545	3926											
PTPRR	0	.	GRCh38	chr12	70745864	70745864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgaaaggagaagggcaaaCagaggtagcggtggtagctt	13	8	16	4	1	0	3	0	1	0	2	0	4	0	3	0	5	3	4	0	5	5	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.961G>T	p.Val321Phe	p.V321F	ENST00000283228	6/14	254	235	19	361	361	0	strelka-varscan-mutect	PTPRR,missense_variant,p.Val321Phe,ENST00000283228,NM_002849.3;PTPRR,missense_variant,p.Val76Phe,ENST00000440835,NM_130846.2;PTPRR,missense_variant,p.Val115Phe,ENST00000378778,NM_001207016.1;PTPRR,missense_variant,p.Val209Phe,ENST00000342084,NM_001207015.1;PTPRR,missense_variant,p.Val76Phe,ENST00000549308,;PTPRR,missense_variant,p.Val76Phe,ENST00000550661,;PTPRR,non_coding_transcript_exon_variant,,ENST00000548220,;PTPRR,5_prime_UTR_variant,,ENST00000551219,;	A	ENST00000283228	Transcript	missense_variant	1414/3529	961/1974	321/657	V/F	Gtt/Ttt		1		-1	PTPRR	HGNC	HGNC:9680	protein_coding	YES	CCDS8998.1	ENSP00000283228	Q15256		UPI000013DD2F	NM_002849.3	tolerated(0.08)		6/14		hmmpanther:PTHR19134:SF264,hmmpanther:PTHR19134,PIRSF_domain:PIRSF001997																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	70745864	70745864	C	A	1	0	0	0	0	1	0	0	0	12965	478	17	2		2	PTPRR	12	70745864	Missense_Mutation	SNP	C	C3L-00095_TP	176081	70745864	62529445	546	3927											
NAV3	0	.	GRCh38	chr12	77968652	77968652	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgagttactcacgcttcCcctccatcggaagccagcca	9	7	8	17	3	1	0	1	0	0	0	4	2	3	1	5	1	4	2	5	1	2	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.621C>A	p.=	p.S207S	ENST00000397909	5/40	192	170	22	279	279	0	strelka-varscan-mutect	NAV3,synonymous_variant,p.=,ENST00000397909,NM_001024383.1;NAV3,synonymous_variant,p.=,ENST00000536525,NM_014903.5;NAV3,synonymous_variant,p.=,ENST00000549464,;NAV3,synonymous_variant,p.=,ENST00000550042,;NAV3,synonymous_variant,p.=,ENST00000550503,;NAV3,non_coding_transcript_exon_variant,,ENST00000547725,;	A	ENST00000397909	Transcript	synonymous_variant	794/9821	621/7158	207/2385	S	tcC/tcA		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1			5/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784,Superfamily_domains:SSF47576																	LOW	1	SNV	1			1										PASS		rs1362077082	.												A	2	1	10	77968652	77968652	C	A	1	0	0	0	0	0	0	0	1	10194	610	22	2		2	NAV3	12	77968652	Silent	SNP	C	C3L-00095_TP	7222788	77968652	55306657	547	3928											
NAV3	0	.	GRCh38	chr12	78119927	78119927	+	Missense_Mutation	SNP	C	C	A																															atccaagtatccagatattgCctcacccacatttcgaaggt																								novel		C3L-00095_TP	C3L-00095_NB	C	C																c.3731C>A	p.Ala1244Asp	p.A1244D	ENST00000397909	15/40	75	69	6	119	119	0	strelka-varscan-mutect	NAV3,missense_variant,p.Ala1244Asp,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Ala1244Asp,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Ala316Asp,ENST00000552895,;NAV3,upstream_gene_variant,,ENST00000550788,;	A	ENST00000397909	Transcript	missense_variant	3904/9821	3731/7158	1244/2385	A/D	gCc/gAc		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	deleterious(0)		15/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	78119927	78119927	C	A	1	0	0	0	0	1	0	0	0	10194	739	26	2		2	NAV3	12	78119927	Missense_Mutation	SNP	C	C3L-00095_TP	151275	78119927	55155382	548	3929	88	2									
NAV3	0	.	GRCh38	chr12	78119928	78119928	+	Silent	SNP	C	C	A																															tccaagtatccagatattgcCtcacccacatttcgaaggta																										C3L-00095_TP	C3L-00095_NB	C	C																c.3732C>A	p.=	p.A1244A	ENST00000397909	15/40	76	69	7	119	119	0	strelka-varscan-mutect	NAV3,synonymous_variant,p.=,ENST00000397909,NM_001024383.1;NAV3,synonymous_variant,p.=,ENST00000536525,NM_014903.5;NAV3,synonymous_variant,p.=,ENST00000552895,;NAV3,upstream_gene_variant,,ENST00000550788,;	A	ENST00000397909	Transcript	synonymous_variant	3905/9821	3732/7158	1244/2385	A	gcC/gcA	COSM694970	1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1			15/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	10	78119928	78119928	C	A	1	0	0	0	0	0	0	0	1	10194	668	24	2		2	NAV3	12	78119928	Silent	SNP	C	C3L-00095_TP	1	78119928	55155381	549	3930	88	2									
PTPRQ	0	.	GRCh38	chr12	80634952	80634952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttgttttagaattcgaCagaagcagaaagaaggtggc	13	9	12	7	2	0	4	0	0	0	4	1	5	0	4	1	2	1	3	1	2	5	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.5794C>A	p.Gln1932Lys	p.Q1932K	ENST00000614701	35/45	187	171	16	222	222	0	strelka-varscan-mutect	PTPRQ,missense_variant,p.Gln1932Lys,ENST00000614701,NM_001145026.1;PTPRQ,missense_variant,p.Gln1974Lys,ENST00000616559,;PTPRQ,missense_variant,p.Gln27Lys,ENST00000547881,;PTPRQ,non_coding_transcript_exon_variant,,ENST00000549355,;	A	ENST00000614701	Transcript	missense_variant	5972/8289	5794/6900	1932/2299	Q/K	Cag/Aag		1		1	PTPRQ	HGNC	HGNC:9679	protein_coding	YES	CCDS73501.1	ENSP00000482885		A0A087WZU1	UPI000192953C	NM_001145026.1	deleterious(0.02)		35/45																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	80634952	80634952	C	A	1	0	0	0	0	1	0	0	0	12964	479	17	2		2	PTPRQ	12	80634952	Missense_Mutation	SNP	C	C3L-00095_TP	2515024	80634952	52640357	550	3931											
ACSS3	0	.	GRCh38	chr12	81134895	81134895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctacatgcctatgatccCacaggcgatgtataccatgt	11	12	7	11	1	1	1	0	1	1	0	2	2	2	1	3	1	3	1	3	1	5	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.536C>G	p.Pro179Arg	p.P179R	ENST00000548058	3/16	144	130	14	196	196	0	strelka-varscan-mutect	ACSS3,missense_variant,p.Pro179Arg,ENST00000548058,NM_024560.2;ACSS3,missense_variant,p.Pro178Arg,ENST00000261206,;ACSS3,missense_variant,p.Pro71Arg,ENST00000549175,;ACSS3,non_coding_transcript_exon_variant,,ENST00000548387,;	G	ENST00000548058	Transcript	missense_variant	1446/9254	536/2061	179/686	P/R	cCa/cGa		1		1	ACSS3	HGNC	HGNC:24723	protein_coding	YES	CCDS9022.1	ENSP00000449535	Q9H6R3		UPI000007060A	NM_024560.2	deleterious(0)		3/16		Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF199,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	81134895	81134895	C	G	1	0	0	0	0	1	0	0	0	233	594	21	4		4	ACSS3	12	81134895	Missense_Mutation	SNP	C	C3L-00095_TP	499943	81134895	52140414	551	3932											
NTS	0	.	GRCh38	chr12	85876697	85876697	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgaccaatatgcatacatCaaaggtaactttttcttttc	12	16	4	9	0	2	1	1	1	1	0	3	1	2	1	1	1	3	2	1	1	5	8	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.131C>G	p.Ser44Ter	p.S44*	ENST00000256010	2/4	144	136	8	76	76	0	strelka-mutect	NTS,stop_gained,p.Ser44Ter,ENST00000256010,NM_006183.4;NTS,stop_gained,p.Ser44Ter,ENST00000551529,;NTS,upstream_gene_variant,,ENST00000550879,;	G	ENST00000256010	Transcript	stop_gained	238/1237	131/513	44/170	S/*	tCa/tGa		1		1	NTS	HGNC	HGNC:8038	protein_coding	YES	CCDS9029.1	ENSP00000256010	P30990	Q6FH20	UPI0000000CAD	NM_006183.4			2/4		PD016590,Pfam_domain:PF07421,Prints_domain:PR01668,hmmpanther:PTHR15356,hmmpanther:PTHR15356:SF0																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	10	85876697	85876697	C	G	1	0	0	0	0	0	1	0	0	10775	840	29	4		4	NTS	12	85876697	Nonsense_Mutation	SNP	C	C3L-00095_TP	4741802	85876697	47398612	552	3933											
C12orf42	0	.	GRCh38	chr12	103306314	103306314	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaagtagtcttttacaCgccattgaattttgagtcct	10	16	8	7	1	1	3	0	3	1	0	2	3	2	3	2	0	1	2	2	0	5	7	rs762265739		C3L-00095_TP	C3L-00095_NB	C	C																c.291G>T	p.=	p.A97A	ENST00000378113	5/6	108	98	10	158	158	0	strelka-varscan-mutect	C12orf42,synonymous_variant,p.=,ENST00000548048,;C12orf42,synonymous_variant,p.=,ENST00000378113,NM_001099336.2,NM_001278419.1;C12orf42,synonymous_variant,p.=,ENST00000548883,NM_198521.3;C12orf42,synonymous_variant,p.=,ENST00000552578,;C12orf42,non_coding_transcript_exon_variant,,ENST00000548789,;C12orf42,intron_variant,,ENST00000546526,;C12orf42,intron_variant,,ENST00000552977,;C12orf42,intron_variant,,ENST00000550650,;C12orf42,3_prime_UTR_variant,,ENST00000551134,;C12orf42,intron_variant,,ENST00000547347,;	A	ENST00000378113	Transcript	synonymous_variant	556/1513	291/1083	97/360	A	gcG/gcT	rs762265739,COSM934132	1		-1	C12orf42	HGNC	HGNC:24729	protein_coding	YES	CCDS44963.1	ENSP00000367353	Q96LP6		UPI00001D7906	NM_001099336.2,NM_001278419.1			5/6		Pfam_domain:PF15380,hmmpanther:PTHR40708,hmmpanther:PTHR40708:SF1											0,1						LOW	1	SNV	5		0,1	1										PASS		rs762265739	.												A	2	1	10	103306314	103306314	C	A	1	0	0	0	0	0	0	0	1	1810	523	19	1		1	C12orf42	12	103306314	Silent	SNP	C	C3L-00095_TP	17429617	103306314	29968995	553	3934											
STAB2	0	.	GRCh38	chr12	103594429	103594429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaacatactctctgtctCtccccggatgccgccatatt	8	12	6	15	2	3	1	1	0	2	1	6	2	4	2	4	1	3	0	4	1	3	3	rs767043794		C3L-00095_TP	C3L-00095_NB	C	C																c.250C>A	p.Leu84Ile	p.L84I	ENST00000388887	3/69	249	218	31	314	314	0	strelka-mutect	STAB2,missense_variant,p.Leu84Ile,ENST00000388887,NM_017564.9;U8,downstream_gene_variant,,ENST00000391292,;	A	ENST00000388887	Transcript	missense_variant	454/8251	250/7656	84/2551	L/I	Ctc/Atc	rs767043794	1		1	STAB2	HGNC	HGNC:18629	protein_coding	YES	CCDS31888.1	ENSP00000373539	Q8WWQ8		UPI00001ADDF4	NM_017564.9	tolerated(0.18)		3/69		hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038																	MODERATE	1	SNV	1			1										PASS		rs767043794	.												A	3	1	10	103594429	103594429	C	A	1	0	0	0	0	1	0	0	0	15616	913	32	2		2	STAB2	12	103594429	Missense_Mutation	SNP	C	C3L-00095_TP	288115	103594429	29680880	554	3935											
STAB2	0	.	GRCh38	chr12	103683277	103683277	+	Frame_Shift_Del	DEL	C	C	-																															caataacttcatgcttggaaCaaaccgggaaatgtcatcca																								novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2878delC	p.Gln960LysfsTer55	p.Q960Kfs*55	ENST00000388887	26/69	159	142	17	150	150	0	sindel-varindel-pindel	STAB2,frameshift_variant,p.Gln960LysfsTer55,ENST00000388887,NM_017564.9;	-	ENST00000388887	Transcript	frameshift_variant	3082/8251	2878/7656	960/2551	Q/X	Caa/aa		1		1	STAB2	HGNC	HGNC:18629	protein_coding	YES	CCDS31888.1	ENSP00000373539	Q8WWQ8		UPI00001ADDF4	NM_017564.9			26/69		PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:2.40.155.10,Pfam_domain:PF12947,SMART_domains:SM00181																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	10	103683277	103683277	C	-	1	0	1	0	1	0	0	0	0	15616	479	17	0		0	STAB2	12	103683277	Frame_Shift_Del	DEL	C	C3L-00095_TP	88848	103683277	29592032	555	3936											
TBX5	0	.	GRCh38	chr12	114403776	114403776	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggtgaaggcggcctgcggGgacgacggggacttgctggg	5	6	22	8	4	0	1	0	1	0	0	0	4	0	3	1	8	2	1	1	8	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.123C>G	p.=	p.S41S	ENST00000310346	2/9	153	141	12	223	223	0	strelka-varscan-mutect	TBX5,synonymous_variant,p.=,ENST00000310346,NM_000192.3;TBX5,synonymous_variant,p.=,ENST00000405440,NM_181486.2;TBX5,synonymous_variant,p.=,ENST00000526441,;TBX5,intron_variant,,ENST00000349716,NM_080717.2;TBX5-AS1,upstream_gene_variant,,ENST00000528549,;TBX5-AS1,upstream_gene_variant,,ENST00000532697,;TBX5-AS1,upstream_gene_variant,,ENST00000531202,;TBX5-AS1,upstream_gene_variant,,ENST00000531024,;TBX5,non_coding_transcript_exon_variant,,ENST00000552726,;	C	ENST00000310346	Transcript	synonymous_variant	790/3825	123/1557	41/518	S	tcC/tcG		1		-1	TBX5	HGNC	HGNC:11604	protein_coding	YES	CCDS9173.1	ENSP00000309913	Q99593		UPI0000136AA2	NM_000192.3			2/9		Low_complexity_(Seg):seg,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	10	114403776	114403776	G	C	1	0	0	0	0	0	0	0	1	16065	1219	43	4		4	TBX5	12	114403776	Silent	SNP	G	C3L-00095_TP	10720499	114403776	18871533	556	3937											
TBX3	0	.	GRCh38	chr12	114681051	114681051	+	Missense_Mutation	SNP	C	C	A																															gagaattgtgaaatttataaCgacagtcatcagcagctata																								novel		C3L-00095_TP	C3L-00095_NB	C	C																c.485G>T	p.Arg162Leu	p.R162L	ENST00000257566	2/8	420	394	26	531	531	0	strelka-varscan-mutect	TBX3,missense_variant,p.Arg162Leu,ENST00000349155,NM_005996.3;TBX3,missense_variant,p.Arg162Leu,ENST00000257566,NM_016569.3;TBX3,non_coding_transcript_exon_variant,,ENST00000552054,;TBX3,upstream_gene_variant,,ENST00000548503,;	A	ENST00000257566	Transcript	missense_variant	875/4208	485/2232	162/743	R/L	cGt/cTt		1		-1	TBX3	HGNC	HGNC:11602	protein_coding	YES	CCDS9176.1	ENSP00000257566	O15119	A0A024RBL6	UPI0000136AA0	NM_016569.3	deleterious(0)		2/8		PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF91,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	114681051	114681051	C	A	1	0	0	0	0	1	0	0	0	16064	536	19	1		1	TBX3	12	114681051	Missense_Mutation	SNP	C	C3L-00095_TP	277275	114681051	18594258	557	3938	89	2									
TBX3	0	.	GRCh38	chr12	114681052	114681052	+	Missense_Mutation	SNP	G	G	T																															agaattgtgaaatttataacGacagtcatcagcagctataa																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.484C>A	p.Arg162Ser	p.R162S	ENST00000257566	2/8	419	392	27	521	520	1	strelka-varscan-mutect	TBX3,missense_variant,p.Arg162Ser,ENST00000349155,NM_005996.3;TBX3,missense_variant,p.Arg162Ser,ENST00000257566,NM_016569.3;TBX3,non_coding_transcript_exon_variant,,ENST00000552054,;TBX3,upstream_gene_variant,,ENST00000548503,;	T	ENST00000257566	Transcript	missense_variant	874/4208	484/2232	162/743	R/S	Cgt/Agt		1		-1	TBX3	HGNC	HGNC:11602	protein_coding	YES	CCDS9176.1	ENSP00000257566	O15119	A0A024RBL6	UPI0000136AA0	NM_016569.3	deleterious(0)		2/8		PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF91,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	114681052	114681052	G	T	1	0	0	0	0	1	0	0	0	16064	1058	37	1		1	TBX3	12	114681052	Missense_Mutation	SNP	G	C3L-00095_TP	1	114681052	18594257	558	3939	89	2									
FBXO21	0	.	GRCh38	chr12	117146165	117146165	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aactccagatcttctggataCcggatctccagctctgcgtt	8	12	8	13	2	4	1	0	0	4	1	6	3	5	3	3	2	4	2	3	2	2	3	rs762203194		C3L-00095_TP	C3L-00095_NB	C	C																c.1809G>T	p.=	p.R603R	ENST00000330622	12/12	185	169	16	218	218	0	strelka-varscan-mutect	FBXO21,synonymous_variant,p.=,ENST00000622495,NM_015002.2;FBXO21,synonymous_variant,p.=,ENST00000427718,;FBXO21,synonymous_variant,p.=,ENST00000330622,NM_033624.2;FBXO21,synonymous_variant,p.=,ENST00000550180,;TESC-AS1,downstream_gene_variant,,ENST00000547006,;	A	ENST00000330622	Transcript	synonymous_variant	1809/2906	1809/1887	603/628	R	cgG/cgT	rs762203194	1		-1	FBXO21	HGNC	HGNC:13592	protein_coding	YES	CCDS9184.1	ENSP00000328187	O94952	A0A024RBR2	UPI000013CF6D	NM_033624.2			12/12		hmmpanther:PTHR31350,hmmpanther:PTHR31350:SF7																	LOW	1	SNV	1			1										PASS		rs762203194	.												A	2	1	10	117146165	117146165	C	A	1	0	0	0	0	0	0	0	1	5596	494	18	2		2	FBXO21	12	117146165	Silent	SNP	C	C3L-00095_TP	2465113	117146165	16129144	559	3940											
TAOK3	0	.	GRCh38	chr12	118238112	118238112	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtaggtaggctagtccaTgcaaggctccatgagtaatg	12	10	12	7	0	0	1	0	1	0	0	2	1	2	1	2	3	1	6	2	3	6	4	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.398A>C	p.His133Pro	p.H133P	ENST00000392533	7/21	175	162	13	225	225	0	strelka-varscan-mutect	TAOK3,missense_variant,p.His133Pro,ENST00000392533,NM_016281.3;TAOK3,missense_variant,p.His133Pro,ENST00000419821,;TAOK3,missense_variant,p.His133Pro,ENST00000535570,;TAOK3,missense_variant,p.His31Pro,ENST00000538601,;TAOK3,non_coding_transcript_exon_variant,,ENST00000537305,;	G	ENST00000392533	Transcript	missense_variant	889/4384	398/2697	133/898	H/P	cAt/cCt		1		-1	TAOK3	HGNC	HGNC:18133	protein_coding	YES	CCDS9188.1	ENSP00000376317	Q9H2K8		UPI000007231B	NM_016281.3	tolerated(0.07)		7/21		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF372,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	118238112	118238112	T	G	1	0	0	0	0	1	0	0	0	15948	1464	51	5		5	TAOK3	12	118238112	Missense_Mutation	SNP	T	C3L-00095_TP	1091947	118238112	15037197	560	3941											
SETD1B	0	.	GRCh38	chr12	121817621	121817621	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aacaggagagcaccgaggagGaagaggaggcggaggaggag	15	0	21	5	2	0	2	0	0	0	2	0	10	0	8	1	8	2	1	1	8	2	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.3151G>C	p.Glu1051Gln	p.E1051Q	ENST00000542440	10/18	162	152	10	203	203	0	strelka-varscan-mutect	SETD1B,missense_variant,p.Glu1051Gln,ENST00000542440,NM_015048.1;SETD1B,missense_variant,p.Glu1077Gln,ENST00000604567,;SETD1B,missense_variant,p.Glu1077Gln,ENST00000619791,;SETD1B,missense_variant,p.Glu1051Gln,ENST00000267197,;	C	ENST00000542440	Transcript	missense_variant	3219/8185	3151/5772	1051/1923	E/Q	Gaa/Caa		1		1	SETD1B	HGNC	HGNC:29187	protein_coding	YES	CCDS53838.1	ENSP00000442924	Q9UPS6		UPI00006C12ED	NM_015048.1	tolerated_low_confidence(0.32)		10/18		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF296,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	10	121817621	121817621	G	C	1	0	0	0	0	1	0	0	0	14408	1175	41	4		4	SETD1B	12	121817621	Missense_Mutation	SNP	G	C3L-00095_TP	3579509	121817621	11457688	561	3942											
TUBA3C	0	.	GRCh38	chr13	19177143	19177143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagctgctcgtggtaggcCttctcggctgagatgaccgg	6	9	15	11	3	1	2	0	2	1	1	3	4	1	2	2	4	2	4	2	4	1	2	rs773729698		C3L-00095_TP	C3L-00095_NB	C	C																c.840G>T	p.Lys280Asn	p.K280N	ENST00000400113	4/5	177	155	22	221	221	0	strelka-varscan-mutect	TUBA3C,missense_variant,p.Lys280Asn,ENST00000400113,NM_006001.2;TUBA3C,missense_variant,p.Lys280Asn,ENST00000618094,;RP11-408E5.8,downstream_gene_variant,,ENST00000612362,;	A	ENST00000400113	Transcript	missense_variant	945/1551	840/1353	280/450	K/N	aaG/aaT	rs773729698,COSM3467500	1		-1	TUBA3C	HGNC	HGNC:12408	protein_coding	YES	CCDS9284.1	ENSP00000382982	Q13748	Q1ZYQ1	UPI0000027DB1	NM_006001.2	deleterious_low_confidence(0.02)		4/5		hmmpanther:PTHR11588:SF94,hmmpanther:PTHR11588,Gene3D:3.30.1330.20,Pfam_domain:PF03953,SMART_domains:SM00865,Superfamily_domains:SSF55307,Prints_domain:PR01162											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs773729698	.												A	3	1	10	19177143	19177143	C	A	1	0	0	0	0	1	0	0	0	17256	680	24	2		2	TUBA3C	13	19177143	Missense_Mutation	SNP	C	C3L-00095_TP		19177143	95187185	562	3943											
GJB6	0	.	GRCh38	chr13	20223313	20223313	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatttttgcatcccggttgCagtgtgttgcagacgaagtc	8	13	11	9	2	0	1	0	0	0	1	2	2	1	1	1	1	3	5	1	1	1	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.168G>A	p.=	p.L56L	ENST00000356192	5/5	152	144	8	206	206	0	varscan-mutect	GJB6,synonymous_variant,p.=,ENST00000356192,NM_001110219.2;GJB6,synonymous_variant,p.=,ENST00000400066,NM_001110220.2;GJB6,synonymous_variant,p.=,ENST00000636852,;GJB6,synonymous_variant,p.=,ENST00000241124,NM_006783.4;GJB6,synonymous_variant,p.=,ENST00000400065,NM_001110221.2;	T	ENST00000356192	Transcript	synonymous_variant	789/2131	168/786	56/261	L	ctG/ctA		1		-1	GJB6	HGNC	HGNC:4288	protein_coding	YES	CCDS9291.1	ENSP00000348521	O95452	A0A024RDS4	UPI0000074737	NM_001110219.2			5/5		Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206,PROSITE_patterns:PS00407,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF23,SMART_domains:SM00037																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	10	20223313	20223313	C	T	1	0	0	0	0	0	0	0	1	6289	697	25	3		3	GJB6	13	20223313	Silent	SNP	C	C3L-00095_TP	1046170	20223313	94141015	563	3944											
LATS2	0	.	GRCh38	chr13	20988403	20988403	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acccaggcggggtgcgagggCcccacagccgtctgcggctc	5	4	16	16	4	1	0	0	0	1	0	2	1	1	0	4	5	3	1	4	5	0	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1377G>T	p.=	p.G459G	ENST00000382592	4/8	29	24	5	35	35	0	strelka-varscan-mutect	LATS2,synonymous_variant,p.=,ENST00000382592,NM_014572.2;LATS2,downstream_gene_variant,,ENST00000472754,;	A	ENST00000382592	Transcript	synonymous_variant	1783/5511	1377/3267	459/1088	G	ggG/ggT		1		-1	LATS2	HGNC	HGNC:6515	protein_coding	YES	CCDS9294.1	ENSP00000372035	Q9NRM7	A0A024RDM3	UPI000013DBF5	NM_014572.2			4/8																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	20988403	20988403	C	A	1	0	0	0	0	0	0	0	1	8552	726	26	2		2	LATS2	13	20988403	Silent	SNP	C	C3L-00095_TP	765090	20988403	93375925	564	3945											
SHISA2	0	.	GRCh38	chr13	26046769	26046769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catacacgttgttcatggtcCcttccggcaagcaacagttg	9	11	9	12	2	1	0	1	0	0	0	3	0	3	0	2	2	3	5	2	2	3	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.632G>T	p.Gly211Val	p.G211V	ENST00000319420	2/2	329	300	29	378	378	0	strelka-varscan-mutect	SHISA2,missense_variant,p.Gly211Val,ENST00000319420,NM_001007538.1;	A	ENST00000319420	Transcript	missense_variant	688/2860	632/888	211/295	G/V	gGg/gTg		1		-1	SHISA2	HGNC	HGNC:20366	protein_coding	YES	CCDS31951.1	ENSP00000313079	Q6UWI4		UPI000004BA7B	NM_001007538.1	deleterious(0.02)		2/2		hmmpanther:PTHR31395:SF0,hmmpanther:PTHR31395																	MODERATE	1	SNV	1			1										PASS		rs1441402223	.												A	3	1	10	26046769	26046769	C	A	1	0	0	0	0	1	0	0	0	14540	623	22	2		2	SHISA2	13	26046769	Missense_Mutation	SNP	C	C3L-00095_TP	5058366	26046769	88317559	565	3946											
CDK8	0	.	GRCh38	chr13	26401538	26401538	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggaatcaagacagcagtCacacacagggacccccgttg	13	4	11	13	1	2	1	2	0	0	1	2	3	2	3	2	2	1	2	2	2	2	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1183C>G	p.His395Asp	p.H395D	ENST00000381527	12/13	307	284	23	382	382	0	strelka-varscan-mutect	CDK8,missense_variant,p.His395Asp,ENST00000381527,NM_001318368.1,NM_001260.1;CDK8,missense_variant,p.His176Asp,ENST00000465820,;CDK8,intron_variant,,ENST00000625988,;CDK8,3_prime_UTR_variant,,ENST00000536792,;CDK8,non_coding_transcript_exon_variant,,ENST00000480323,;CDK8,non_coding_transcript_exon_variant,,ENST00000477277,;	G	ENST00000381527	Transcript	missense_variant	1686/3055	1183/1395	395/464	H/D	Cac/Gac		1		1	CDK8	HGNC	HGNC:1779	protein_coding	YES	CCDS9317.1	ENSP00000370938	P49336		UPI000002E531	NM_001318368.1,NM_001260.1	tolerated(0.65)		12/13		hmmpanther:PTHR24056:SF131,hmmpanther:PTHR24056																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	26401538	26401538	C	G	1	0	0	0	0	1	0	0	0	2854	826	29	4		4	CDK8	13	26401538	Missense_Mutation	SNP	C	C3L-00095_TP	354769	26401538	87962790	566	3947											
RXFP2	0	.	GRCh38	chr13	31791990	31791990	+	Frame_Shift_Del	DEL	A	A	-																															ttggcatgagatctttcattAaagctgaaaatacaactcac																								novel		C3L-00095_TP	C3L-00095_NB	A	A																c.1332delA	p.Ala445LeufsTer19	p.A445Lfs*19	ENST00000298386	15/18	141	125	16	178	178	0	sindel-varindel-pindel	RXFP2,frameshift_variant,p.Ala445LeufsTer19,ENST00000298386,NM_130806.3;RXFP2,frameshift_variant,p.Ala421LeufsTer19,ENST00000380314,NM_001166058.1;	-	ENST00000298386	Transcript	frameshift_variant	1401/3319	1330/2265	444/754	K/X	Aaa/aa		1		1	RXFP2	HGNC	HGNC:17318	protein_coding	YES	CCDS9342.1	ENSP00000298386	Q8WXD0		UPI0000049589	NM_130806.3			15/18		PROSITE_profiles:PS50262,hmmpanther:PTHR24365:SF226,hmmpanther:PTHR24365,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	10	31791990	31791990	A	-	1	0	1	0	1	0	0	0	0	14021	363	13	0		0	RXFP2	13	31791990	Frame_Shift_Del	DEL	A	C3L-00095_TP	5390452	31791990	82572338	567	3948											
ZAR1L	0	.	GRCh38	chr13	32311751	32311751	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgtaagggtcaatgcAgtagtcaggggcgttcgcgg	7	10	15	9	3	3	0	2	0	1	0	4	0	3	0	1	4	1	4	1	4	3	4	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.175T>A	p.Cys59Ser	p.C59S	ENST00000533490	3/6	415	370	45	483	483	0	strelka-varscan-mutect	ZAR1L,missense_variant,p.Cys59Ser,ENST00000533490,;ZAR1L,missense_variant,p.Cys59Ser,ENST00000345108,NM_001136571.1;BRCA2,upstream_gene_variant,,ENST00000380152,;BRCA2,upstream_gene_variant,,ENST00000544455,NM_000059.3;BRCA2,upstream_gene_variant,,ENST00000614259,;BRCA2,upstream_gene_variant,,ENST00000530893,;	T	ENST00000533490	Transcript	missense_variant	594/1564	175/966	59/321	C/S	Tgc/Agc		1		-1	ZAR1L	HGNC	HGNC:37116	protein_coding	YES	CCDS45023.1	ENSP00000437289	A6NP61		UPI00006C1387		tolerated(0.17)		3/6		hmmpanther:PTHR31054:SF5,hmmpanther:PTHR31054																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	32311751	32311751	A	T	1	0	0	0	0	1	0	0	0	18077	188	7	4		4	ZAR1L	13	32311751	Missense_Mutation	SNP	A	C3L-00095_TP	519761	32311751	82052577	568	3949											
N4BP2L2	0	.	GRCh38	chr13	32443474	32443474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgattttagttgtatacaCttgttcctctcttaaaactt	10	20	4	7	0	1	1	0	1	1	0	3	1	2	1	1	0	2	3	1	0	5	10	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1063G>A	p.Val355Met	p.V355M	ENST00000399396	7/10	221	208	13	181	180	1	strelka-varscan-mutect	N4BP2L2,missense_variant,p.Val340Met,ENST00000357505,NM_001278432.1;N4BP2L2,missense_variant,p.Val355Met,ENST00000399396,NM_033111.4;N4BP2L2,missense_variant,p.Val340Met,ENST00000504114,;N4BP2L2,intron_variant,,ENST00000446957,;N4BP2L2,downstream_gene_variant,,ENST00000505213,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000380121,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000503296,;N4BP2L2,downstream_gene_variant,,ENST00000473025,;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000509076,;	T	ENST00000399396	Transcript	missense_variant	1171/2872	1063/2259	355/752	V/M	Gtg/Atg		1		-1	N4BP2L2	HGNC	HGNC:26916	protein_coding	YES	CCDS45024.1	ENSP00000382328	Q92802		UPI00015C73C2	NM_033111.4	tolerated(0.08)		7/10		hmmpanther:PTHR13308,hmmpanther:PTHR13308:SF23																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	32443474	32443474	C	T	1	0	0	0	0	1	0	0	0	10116	565	20	3		3	N4BP2L2	13	32443474	Missense_Mutation	SNP	C	C3L-00095_TP	131723	32443474	81920854	569	3950											
STARD13	0	.	GRCh38	chr13	33127390	33127390	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccatgtccagccgtgcttGttggacatggagtgcttctc	6	12	11	12	1	1	0	0	0	1	0	3	2	2	2	3	2	3	3	3	2	0	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1905C>T	p.=	p.N635N	ENST00000336934	6/14	123	116	7	181	181	0	strelka-varscan-mutect	STARD13,synonymous_variant,p.=,ENST00000336934,NM_178006.3;STARD13,synonymous_variant,p.=,ENST00000255486,NM_178007.2;STARD13,synonymous_variant,p.=,ENST00000399365,NM_052851.2;STARD13,downstream_gene_variant,,ENST00000567873,;	A	ENST00000336934	Transcript	synonymous_variant	2022/5917	1905/3342	635/1113	N	aaC/aaT		1		-1	STARD13	HGNC	HGNC:19164	protein_coding	YES	CCDS9348.1	ENSP00000338785	Q9Y3M8	A0A024RDV4	UPI000006226E	NM_178006.3			6/14		hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF6																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	33127390	33127390	G	A	1	0	0	0	0	0	0	0	1	15631	1368	48	3		3	STARD13	13	33127390	Silent	SNP	G	C3L-00095_TP	683916	33127390	81236938	570	3951											
NBEA	0	.	GRCh38	chr13	35593382	35593382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaaaatttgatcatccaGatcgaaccttctcatccgtt	12	13	6	10	2	2	2	2	1	1	1	6	4	4	3	3	1	1	1	3	1	3	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.7231G>T	p.Asp2411Tyr	p.D2411Y	ENST00000400445	47/58	153	141	12	173	173	0	strelka-varscan-mutect	NBEA,missense_variant,p.Asp2411Tyr,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Asp2412Tyr,ENST00000310336,;NBEA,missense_variant,p.Asp2411Tyr,ENST00000629018,;NBEA,missense_variant,p.Asp2408Tyr,ENST00000379939,;NBEA,missense_variant,p.Asp204Tyr,ENST00000537702,NM_001204197.1;NBEA,5_prime_UTR_variant,,ENST00000379922,;	T	ENST00000400445	Transcript	missense_variant	7765/11119	7231/8841	2411/2946	D/Y	Gat/Tat		1		1	NBEA	HGNC	HGNC:7648	protein_coding	YES	CCDS45026.1	ENSP00000383295	Q8NFP9		UPI00004FF92F	NM_015678.4	deleterious(0)		47/58		Gene3D:1t77A02,Pfam_domain:PF02138,PROSITE_profiles:PS50197,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF62,SMART_domains:SM01026,Superfamily_domains:SSF81837																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	35593382	35593382	G	T	1	0	0	0	0	1	0	0	0	10198	942	33	2		2	NBEA	13	35593382	Missense_Mutation	SNP	G	C3L-00095_TP	2465992	35593382	78770946	571	3952											
FREM2	0	.	GRCh38	chr13	38687424	38687424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccaggaccgccaccgcCgccccggctgctgctgctgc	5	5	11	20	4	1	0	1	0	0	0	1	1	1	1	7	2	5	4	7	2	1	0	rs745648044		C3L-00095_TP	C3L-00095_NB	C	C																c.80C>A	p.Pro27Gln	p.P27Q	ENST00000280481	1/24	129	119	10	146	146	0	strelka-varscan-mutect	FREM2,missense_variant,p.Pro27Gln,ENST00000280481,NM_207361.5;	A	ENST00000280481	Transcript	missense_variant	296/16070	80/9510	27/3169	P/Q	cCg/cAg	rs745648044	1		1	FREM2	HGNC	HGNC:25396	protein_coding	YES	CCDS31960.1	ENSP00000280481	Q5SZK8		UPI000443805C	NM_207361.5	tolerated_low_confidence(0.06)		1/24		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11878:SF32,hmmpanther:PTHR11878																	MODERATE	1	SNV	2			1										PASS		rs745648044	.												A	3	1	10	38687424	38687424	C	A	1	0	0	0	0	1	0	0	0	5912	652	23	1		1	FREM2	13	38687424	Missense_Mutation	SNP	C	C3L-00095_TP	3094042	38687424	75676904	572	3953											
RGCC	0	.	GRCh38	chr13	41470482	41470482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctctcatttacaggtatGtgaaacaagaagttctgggt	12	14	9	6	0	3	2	1	1	2	1	4	2	3	2	0	2	2	2	0	2	6	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.411G>T	p.Met137Ile	p.M137I	ENST00000379359	5/5	227	208	19	215	215	0	strelka-varscan-mutect	RGCC,missense_variant,p.Met137Ile,ENST00000379359,NM_014059.2;RGCC,downstream_gene_variant,,ENST00000487837,;	T	ENST00000379359	Transcript	missense_variant	560/960	411/414	137/137	M/I	atG/atT		1		1	RGCC	HGNC	HGNC:20369	protein_coding	YES	CCDS41880.1	ENSP00000368664	Q9H4X1		UPI000006D63E	NM_014059.2	deleterious(0.01)		5/5		Pfam_domain:PF15151,hmmpanther:PTHR32193,hmmpanther:PTHR32193:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	41470482	41470482	G	T	1	0	0	0	0	1	0	0	0	13448	1391	48	2		2	RGCC	13	41470482	Missense_Mutation	SNP	G	C3L-00095_TP	2783058	41470482	72893846	573	3954											
PCDH8	0	.	GRCh38	chr13	52844827	52844827	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttacagaaggttgacatctgGgctggtgggtgaggcgatgg	8	10	18	5	1	1	3	0	2	1	1	1	4	1	3	0	6	1	2	0	6	2	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2946C>G	p.=	p.A982A	ENST00000377942	3/3	77	71	6	114	114	0	strelka-varscan-mutect	PCDH8,synonymous_variant,p.=,ENST00000377942,NM_002590.3;PCDH8,synonymous_variant,p.=,ENST00000338862,NM_032949.2;PCDH8,non_coding_transcript_exon_variant,,ENST00000613548,;	C	ENST00000377942	Transcript	synonymous_variant	3150/5088	2946/3213	982/1070	A	gcC/gcG		1		-1	PCDH8	HGNC	HGNC:8660	protein_coding	YES	CCDS9438.1	ENSP00000367177	O95206		UPI0000072D47	NM_002590.3			3/3		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF46																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	10	52844827	52844827	G	C	1	0	0	0	0	0	0	0	1	11604	1219	43	4		4	PCDH8	13	52844827	Silent	SNP	G	C3L-00095_TP	11374345	52844827	61519501	574	3955											
KLF5	0	.	GRCh38	chr13	73075762	73075762	+	Missense_Mutation	SNP	C	C	T																															cgactggaggttcgcgcgatCggatgagctgacccgccact																										C3L-00095_TP	C3L-00095_NB	C	C																c.1250C>T	p.Ser417Leu	p.S417L	ENST00000377687	4/4	172	160	12	204	204	0	strelka-varscan-mutect	KLF5,missense_variant,p.Ser417Leu,ENST00000377687,NM_001730.4;KLF5,missense_variant,p.Ser326Leu,ENST00000539231,NM_001286818.1;KLF5,non_coding_transcript_exon_variant,,ENST00000464404,;	T	ENST00000377687	Transcript	missense_variant	1786/3566	1250/1374	417/457	S/L	tCg/tTg	COSM358797	1		1	KLF5	HGNC	HGNC:6349	protein_coding	YES	CCDS9448.1	ENSP00000366915	Q13887	Q5T6X2	UPI0000000C89	NM_001730.4	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF60,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	10	73075762	73075762	C	T	1	0	0	0	0	1	0	0	0	8214	893	31	1		1	KLF5	13	73075762	Missense_Mutation	SNP	C	C3L-00095_TP	20230935	73075762	41288566	575	3956	90	2									
KLF5	0	.	GRCh38	chr13	73075764	73075764	+	Missense_Mutation	SNP	G	G	A																															actggaggttcgcgcgatcgGatgagctgacccgccactac																										C3L-00095_TP	C3L-00095_NB	G	G																c.1252G>A	p.Asp418Asn	p.D418N	ENST00000377687	4/4	176	164	12	208	208	0	strelka-varscan-mutect	KLF5,missense_variant,p.Asp418Asn,ENST00000377687,NM_001730.4;KLF5,missense_variant,p.Asp327Asn,ENST00000539231,NM_001286818.1;KLF5,non_coding_transcript_exon_variant,,ENST00000464404,;	A	ENST00000377687	Transcript	missense_variant	1788/3566	1252/1374	418/457	D/N	Gat/Aat	COSM353847	1		1	KLF5	HGNC	HGNC:6349	protein_coding	YES	CCDS9448.1	ENSP00000366915	Q13887	Q5T6X2	UPI0000000C89	NM_001730.4	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF60,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	10	73075764	73075764	G	A	1	0	0	0	0	1	0	0	0	8214	1174	41	3		3	KLF5	13	73075764	Missense_Mutation	SNP	G	C3L-00095_TP	2	73075764	41288564	576	3957	90	2									
POU4F1	0	.	GRCh38	chr13	78602492	78602492	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcgatgtccacggccgcCagcgcctcggcccgcgccag	5	3	14	19	8	0	0	0	0	0	0	2	1	1	0	6	3	1	0	6	3	0	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.183G>T	p.=	p.L61L	ENST00000377208	2/2	37	31	6	50	50	0	strelka-varscan-mutect	POU4F1,synonymous_variant,p.=,ENST00000377208,NM_006237.3;RNF219-AS1,intron_variant,,ENST00000606429,;RNF219-AS1,intron_variant,,ENST00000560584,;RNF219-AS1,intron_variant,,ENST00000444769,;RNF219-AS1,intron_variant,,ENST00000560209,;RNF219-AS1,intron_variant,,ENST00000607860,;RNF219-AS1,intron_variant,,ENST00000607205,;RNF219-AS1,intron_variant,,ENST00000606124,;RNF219-AS1,intron_variant,,ENST00000606376,;RNF219-AS1,intron_variant,,ENST00000607220,;RNF219-AS1,intron_variant,,ENST00000430549,;RP11-52L5.6,downstream_gene_variant,,ENST00000607269,;	A	ENST00000377208	Transcript	synonymous_variant	417/4547	183/1260	61/419	L	ctG/ctT		1		-1	POU4F1	HGNC	HGNC:9218	protein_coding	YES	CCDS31996.1	ENSP00000366413	Q01851		UPI000013DCAA	NM_006237.3			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR11636:SF42,hmmpanther:PTHR11636																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	78602492	78602492	C	A	1	0	0	0	0	0	0	0	1	12394	581	21	2		2	POU4F1	13	78602492	Silent	SNP	C	C3L-00095_TP	5526728	78602492	35761836	577	3958											
SLITRK6	0	.	GRCh38	chr13	85794229	85794229	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagttccctttctttttcTaaaatgtttctgtacaatga	10	19	5	7	0	3	2	0	2	3	0	4	2	4	2	1	0	1	3	1	0	5	7	rs766553493		C3L-00095_TP	C3L-00095_NB	T	T																c.2280A>T	p.Leu760Phe	p.L760F	ENST00000400286	2/2	200	180	20	218	218	0	strelka-varscan-mutect	SLITRK6,missense_variant,p.Leu760Phe,ENST00000400286,NM_032229.2;	A	ENST00000400286	Transcript	missense_variant	2879/4318	2280/2526	760/841	L/F	ttA/ttT	rs766553493	1		-1	SLITRK6	HGNC	HGNC:23503	protein_coding	YES	CCDS41903.1	ENSP00000383143	Q9H5Y7		UPI000004C9D6	NM_032229.2	deleterious(0)		2/2																			MODERATE	1	SNV	1			1										PASS		rs766553493	.												A	3	1	10	85794229	85794229	T	A	1	0	0	0	0	1	0	0	0	15038	1519	53	4		4	SLITRK6	13	85794229	Missense_Mutation	SNP	T	C3L-00095_TP	7191737	85794229	28570099	578	3959											
SLITRK6	0	.	GRCh38	chr13	85795623	85795623	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtggtcttagttgacaTgcgactatcatttattgaag	10	14	11	6	2	2	2	1	2	1	0	2	4	2	3	0	2	1	1	0	2	4	6	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.886A>T	p.Met296Leu	p.M296L	ENST00000400286	2/2	200	189	11	222	222	0	strelka-varscan-mutect	SLITRK6,missense_variant,p.Met296Leu,ENST00000400286,NM_032229.2;	A	ENST00000400286	Transcript	missense_variant	1485/4318	886/2526	296/841	M/L	Atg/Ttg		1		-1	SLITRK6	HGNC	HGNC:23503	protein_coding	YES	CCDS41903.1	ENSP00000383143	Q9H5Y7		UPI000004C9D6	NM_032229.2	tolerated(0.74)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	85795623	85795623	T	A	1	0	0	0	0	1	0	0	0	15038	1464	51	4		4	SLITRK6	13	85795623	Missense_Mutation	SNP	T	C3L-00095_TP	1394	85795623	28568705	579	3960											
SLITRK6	0	.	GRCh38	chr13	85796300	85796300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagccgttatttaataagCttagttggaaaggtcgtgat	12	14	10	5	2	1	1	1	1	0	0	2	2	1	2	1	2	2	3	1	2	6	6	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.209G>T	p.Ser70Ile	p.S70I	ENST00000400286	2/2	91	81	10	117	116	1	strelka-varscan-mutect	SLITRK6,missense_variant,p.Ser70Ile,ENST00000400286,NM_032229.2;	A	ENST00000400286	Transcript	missense_variant	808/4318	209/2526	70/841	S/I	aGc/aTc		1		-1	SLITRK6	HGNC	HGNC:23503	protein_coding	YES	CCDS41903.1	ENSP00000383143	Q9H5Y7		UPI000004C9D6	NM_032229.2	tolerated(0.46)		2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF5,Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	85796300	85796300	C	A	1	0	0	0	0	1	0	0	0	15038	797	28	2		2	SLITRK6	13	85796300	Missense_Mutation	SNP	C	C3L-00095_TP	677	85796300	28568028	580	3961											
SLITRK5	0	.	GRCh38	chr13	87676448	87676448	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagccctctaaggacttgGgctacagcaactatggcccc	9	7	11	14	0	1	0	0	0	1	0	1	1	1	1	3	4	4	3	3	4	4	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1060G>T	p.Gly354Cys	p.G354C	ENST00000325089	2/2	206	189	17	271	271	0	strelka-varscan-mutect	SLITRK5,missense_variant,p.Gly354Cys,ENST00000325089,NM_015567.1;	T	ENST00000325089	Transcript	missense_variant	1279/21103	1060/2877	354/958	G/C	Ggc/Tgc		1		1	SLITRK5	HGNC	HGNC:20295	protein_coding	YES	CCDS9465.1	ENSP00000366283	O94991		UPI000015F6F7	NM_015567.1	deleterious(0.04)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	87676448	87676448	G	T	1	0	0	0	0	1	0	0	0	15037	1232	43	2		2	SLITRK5	13	87676448	Missense_Mutation	SNP	G	C3L-00095_TP	1880148	87676448	26687880	581	3962											
NALCN	0	.	GRCh38	chr13	101073637	101073637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgacaattcggaacaGtacggtaatagcttttccag	12	11	9	9	2	0	1	0	1	0	0	2	2	1	2	2	2	3	3	2	2	5	6	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.4144C>A	p.Leu1382Met	p.L1382M	ENST00000251127	37/44	221	204	17	229	227	2	strelka-varscan-mutect	NALCN,missense_variant,p.Leu1382Met,ENST00000251127,NM_052867.2;	T	ENST00000251127	Transcript	missense_variant	4226/6818	4144/5217	1382/1738	L/M	Ctg/Atg		1		-1	NALCN	HGNC	HGNC:19082	protein_coding	YES	CCDS9498.1	ENSP00000251127	Q8IZF0	A0A024RE05	UPI000004EBBD	NM_052867.2	deleterious(0)		37/44		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF214,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		rs1394846721	.												T	3	4	10	101073637	101073637	G	T	1	0	0	0	0	1	0	0	0	10155	1020	36	2		2	NALCN	13	101073637	Missense_Mutation	SNP	G	C3L-00095_TP	13397189	101073637	13290691	582	3963											
NALCN	0	.	GRCh38	chr13	101110661	101110661	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattttcccctgctgatcctCtggctgtttgatccatgtct	4	17	8	12	0	2	2	0	2	2	0	5	3	5	2	4	1	1	3	4	1	0	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2322G>T	p.Gln774His	p.Q774H	ENST00000251127	20/44	311	287	24	276	276	0	strelka-varscan-mutect	NALCN,missense_variant,p.Gln774His,ENST00000251127,NM_052867.2;	A	ENST00000251127	Transcript	missense_variant	2404/6818	2322/5217	774/1738	Q/H	caG/caT		1		-1	NALCN	HGNC	HGNC:19082	protein_coding	YES	CCDS9498.1	ENSP00000251127	Q8IZF0	A0A024RE05	UPI000004EBBD	NM_052867.2	tolerated(0.14)		20/44																			MODERATE	1	SNV	1			1										PASS		rs1385381268	.												A	3	1	10	101110661	101110661	C	A	1	0	0	0	0	1	0	0	0	10155	912	32	2		2	NALCN	13	101110661	Missense_Mutation	SNP	C	C3L-00095_TP	37024	101110661	13253667	583	3964											
NALCN	0	.	GRCh38	chr13	101395299	101395299	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatagtgctcgaaggtcaTtggcgtattcatacaaacag	13	10	11	7	2	2	0	2	0	0	0	3	2	2	1	0	3	3	2	0	3	5	5	rs77203309		C3L-00095_TP	C3L-00095_NB	T	T																c.175A>T	p.Met59Leu	p.M59L	ENST00000251127	3/44	93	87	6	119	119	0	strelka-varscan-mutect	NALCN,missense_variant,p.Met59Leu,ENST00000251127,NM_052867.2;NALCN,missense_variant,p.Met59Leu,ENST00000376200,;NALCN,non_coding_transcript_exon_variant,,ENST00000470333,;NALCN,non_coding_transcript_exon_variant,,ENST00000497170,;	A	ENST00000251127	Transcript	missense_variant	257/6818	175/5217	59/1738	M/L	Atg/Ttg	rs77203309	1		-1	NALCN	HGNC	HGNC:19082	protein_coding	YES	CCDS9498.1	ENSP00000251127	Q8IZF0	A0A024RE05	UPI000004EBBD	NM_052867.2	tolerated(0.11)		3/44		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF214,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix												24227479					MODERATE	1	SNV	1			1										PASS		rs77203309	.												A	3	1	10	101395299	101395299	T	A	1	0	0	0	0	1	0	0	0	10155	1493	52	4		4	NALCN	13	101395299	Missense_Mutation	SNP	T	C3L-00095_TP	284638	101395299	12969029	584	3965											
CCDC168	0	.	GRCh38	chr13	102736551	102736551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagcttcttgttattcgtgGttcaccttcctcttctttta	6	20	5	10	1	4	0	1	0	3	0	6	0	5	0	2	1	1	3	2	1	3	9	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.14146C>A	p.Pro4716Thr	p.P4716T	ENST00000322527	4/4	267	253	14	306	305	1	strelka-varscan-mutect	CCDC168,missense_variant,p.Pro4716Thr,ENST00000322527,NM_001146197.1;	T	ENST00000322527	Transcript	missense_variant	14284/21466	14146/21246	4716/7081	P/T	Cca/Aca		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	tolerated(0.29)		4/4		Pfam_domain:PF15804,hmmpanther:PTHR35542,hmmpanther:PTHR35542:SF1																	MODERATE	1	SNV	3			1										PASS		.	.												T	3	4	10	102736551	102736551	G	T	1	0	0	0	0	1	0	0	0	2484	1261	44	2		2	CCDC168	13	102736551	Missense_Mutation	SNP	G	C3L-00095_TP	1341252	102736551	11627777	585	3966											
CCDC168	0	.	GRCh38	chr13	102745485	102745485	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcattttggttgtcaagtTacagctcagttcttttctac	7	20	6	8	0	5	0	3	0	2	0	5	0	5	0	0	1	3	4	0	1	3	9	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.5212A>G	p.Asn1738Asp	p.N1738D	ENST00000322527	4/4	158	143	15	184	184	0	strelka-varscan-mutect	CCDC168,missense_variant,p.Asn1738Asp,ENST00000322527,NM_001146197.1;LINC00283,downstream_gene_variant,,ENST00000430111,;	C	ENST00000322527	Transcript	missense_variant	5350/21466	5212/21246	1738/7081	N/D	Aac/Gac		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	tolerated(0.22)		4/4		Pfam_domain:PF15804																	MODERATE	1	SNV	3			1										PASS		.	.												C	3	2	10	102745485	102745485	T	C	1	0	0	0	0	1	0	0	0	2484	1754	61	5		5	CCDC168	13	102745485	Missense_Mutation	SNP	T	C3L-00095_TP	8934	102745485	11618843	586	3967											
SLC10A2	0	.	GRCh38	chr13	103058304	103058304	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgatgctcccagagtcgacCcacattttggtatagataag	12	10	9	10	2	0	2	0	0	0	2	2	4	1	2	2	1	1	2	2	1	3	5			C3L-00095_TP	C3L-00095_NB	C	C																c.456G>T	p.Trp152Cys	p.W152C	ENST00000245312	2/6	450	421	29	454	451	3	strelka-varscan-mutect	SLC10A2,missense_variant,p.Trp152Cys,ENST00000245312,NM_000452.2;	A	ENST00000245312	Transcript	missense_variant	1053/3779	456/1047	152/348	W/C	tgG/tgT	COSM1730416	1		-1	SLC10A2	HGNC	HGNC:10906	protein_coding	YES	CCDS9506.1	ENSP00000245312	Q12908		UPI000013CB9B	NM_000452.2	deleterious(0)		2/6		hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF19,TIGRFAM_domain:TIGR00841,Pfam_domain:PF01758											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	10	103058304	103058304	C	A	1	0	0	0	0	1	0	0	0	14639	624	22	2		2	SLC10A2	13	103058304	Missense_Mutation	SNP	C	C3L-00095_TP	312819	103058304	11306024	587	3968											
COL4A1	0	.	GRCh38	chr13	110176625	110176625	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaccggagctccacactgtaCctggctgcccaggctgtcct	6	8	11	16	1	0	0	0	0	0	0	2	2	2	1	5	3	3	4	5	3	1	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2968+1G>T		p.X990_splice	ENST00000375820		334	309	25	456	456	0	strelka-varscan-mutect	COL4A1,splice_donor_variant,,ENST00000375820,NM_001845.5;	A	ENST00000375820	Transcript	splice_donor_variant	-/6532	2968/5010	990/1669				1		-1	COL4A1	HGNC	HGNC:2202	protein_coding	YES	CCDS9511.1	ENSP00000364979	P02462		UPI000004981D	NM_001845.5				35/51																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	10	110176625	110176625	C	A	1	0	0	0	0	0	0	1	0	3478	521	18	2		2	COL4A1	13	110176625	Splice_Site	SNP	C	C3L-00095_TP	7118321	110176625	4187703	588	3969											
F10	0	.	GRCh38	chr13	113143966	113143966	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagccatatgatgcagcCgacctggaccccaccgagaa	12	5	11	13	2	0	2	0	1	0	1	0	6	0	4	6	2	3	1	6	2	3	1	rs764063729		C3L-00095_TP	C3L-00095_NB	C	C																c.618C>A	p.=	p.A206A	ENST00000375559	6/8	268	248	20	360	360	0	strelka-varscan-mutect	F10,synonymous_variant,p.=,ENST00000375559,NM_000504.3;F10,synonymous_variant,p.=,ENST00000375551,NM_001312675.1;F10,synonymous_variant,p.=,ENST00000409306,;F10,3_prime_UTR_variant,,ENST00000410083,;F10,non_coding_transcript_exon_variant,,ENST00000477269,;F10,non_coding_transcript_exon_variant,,ENST00000498455,;	A	ENST00000375559	Transcript	synonymous_variant	656/1517	618/1467	206/488	A	gcC/gcA	rs764063729	1		1	F10	HGNC	HGNC:3528	protein_coding	YES	CCDS9530.1	ENSP00000364709	P00742	Q5JVE7	UPI000000DB39	NM_000504.3			6/8		hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF192,PIRSF_domain:PIRSF001143																	LOW	1	SNV	1			1										PASS		rs764063729	.												A	2	1	10	113143966	113143966	C	A	1	0	0	0	0	0	0	0	1	5204	639	23	1		1	F10	13	113143966	Silent	SNP	C	C3L-00095_TP	2967341	113143966	1220362	589	3970											
POTEM	0	.	GRCh38	chr14	18967654	18967654	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattctgctatgaagacaCtcaggagcaagatgggcaag	14	8	12	7	0	2	4	1	2	1	2	2	5	2	5	0	2	2	3	0	2	4	2	rs763554455		C3L-00095_TP	C3L-00095_NB	C	C																c.169C>A	p.Leu57Ile	p.L57I	ENST00000547889	1/11	293	278	15	330	330	0	varscan-mutect	POTEM,missense_variant,p.Leu57Ile,ENST00000547889,NM_001145442.1;POTEM,missense_variant,p.Leu57Ile,ENST00000552966,;POTEM,missense_variant,p.Leu57Ile,ENST00000616847,;	A	ENST00000547889	Transcript	missense_variant	221/1817	169/1527	57/508	L/I	Ctc/Atc	rs763554455	1		1	POTEM	HGNC	HGNC:37096	protein_coding	YES	CCDS73609.1	ENSP00000448062	A6NI47		UPI00006C1407	NM_001145442.1	tolerated_low_confidence(0.09)		1/11		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43																	MODERATE	1	SNV	1			1										PASS		rs763554455	.												A	3	1	10	18967654	18967654	C	A	1	0	0	0	0	1	0	0	0	12384	565	20	2		2	POTEM	14	18967654	Missense_Mutation	SNP	C	C3L-00095_TP		18967654	88076064	590	3971											
RNASE12	0	.	GRCh38	chr14	20590358	20590358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccctctgtgggggaataGtggtacctgcaggcagggta	9	8	15	9	0	1	0	0	0	1	0	1	1	1	1	3	5	3	4	3	5	5	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.366C>A	p.His122Gln	p.H122Q	ENST00000556526	1/1	311	290	21	385	384	1	strelka-varscan-mutect	RNASE12,missense_variant,p.His122Gln,ENST00000556526,NM_001024822.2;RNASE11,intron_variant,,ENST00000413502,;RP11-14J7.7,intron_variant,,ENST00000555283,;RNASE11,upstream_gene_variant,,ENST00000553849,NM_145250.3;RNASE11,upstream_gene_variant,,ENST00000398009,;RNASE11,upstream_gene_variant,,ENST00000432835,;RNASE11,upstream_gene_variant,,ENST00000555841,;RNASE11,upstream_gene_variant,,ENST00000620912,;RNASE11,upstream_gene_variant,,ENST00000398008,;RNASE11,upstream_gene_variant,,ENST00000443456,;RNASE11,upstream_gene_variant,,ENST00000557105,;RNASE11,upstream_gene_variant,,ENST00000557503,;RNASE11,upstream_gene_variant,,ENST00000554842,;RP11-14J7.6,intron_variant,,ENST00000553604,;RP11-14J7.6,intron_variant,,ENST00000554529,;RP11-14J7.6,intron_variant,,ENST00000556487,;RP11-14J7.6,upstream_gene_variant,,ENST00000554993,;RP11-14J7.6,downstream_gene_variant,,ENST00000554006,;RP11-14J7.7,missense_variant,p.His60Gln,ENST00000335950,;	T	ENST00000556526	Transcript	missense_variant	466/631	366/444	122/147	H/Q	caC/caA		1		-1	RNASE12	HGNC	HGNC:24211	protein_coding	YES	CCDS32037.1	ENSP00000450580	Q5GAN4	W0UV30	UPI00004C6F5C	NM_001024822.2	tolerated(0.41)		1/1		Gene3D:3.10.130.10,Pfam_domain:PF00074,Prints_domain:PR00794,hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF20,SMART_domains:SM00092,Superfamily_domains:SSF54076																	MODERATE		SNV				1										PASS		.	.												T	3	4	10	20590358	20590358	G	T	1	0	0	0	0	1	0	0	0	13581	1020	36	2		2	RNASE12	14	20590358	Missense_Mutation	SNP	G	C3L-00095_TP	1622704	20590358	86453360	591	3972											
ARHGEF40	0	.	GRCh38	chr14	21074340	21074340	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccaagtacactgcccccaGaactgccctctggacctcca	10	6	7	18	0	1	1	0	0	1	1	2	2	2	2	6	1	5	1	6	1	3	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.610G>C	p.Glu204Gln	p.E204Q	ENST00000298694	3/24	245	231	14	333	333	0	strelka-varscan-mutect	ARHGEF40,missense_variant,p.Glu204Gln,ENST00000298694,NM_001278530.1,NM_001278529.1,NM_018071.4;ARHGEF40,missense_variant,p.Glu204Gln,ENST00000555038,;NDRG2,upstream_gene_variant,,ENST00000403829,NM_001282211.1;ARHGEF40,missense_variant,p.Glu204Gln,ENST00000553709,;ARHGEF40,missense_variant,p.Glu204Gln,ENST00000556399,;ARHGEF40,intron_variant,,ENST00000555232,;ARHGEF40,upstream_gene_variant,,ENST00000555052,;	C	ENST00000298694	Transcript	missense_variant	737/5919	610/4560	204/1519	E/Q	Gaa/Caa		1		1	ARHGEF40	HGNC	HGNC:25516	protein_coding	YES	CCDS32041.1	ENSP00000298694	Q8TER5		UPI00001FCFB7	NM_001278530.1,NM_001278529.1,NM_018071.4	tolerated(0.12)		3/24		Low_complexity_(Seg):seg,hmmpanther:PTHR22826:SF143,hmmpanther:PTHR22826																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	10	21074340	21074340	G	C	1	0	0	0	0	1	0	0	0	1044	943	33	4		4	ARHGEF40	14	21074340	Missense_Mutation	SNP	G	C3L-00095_TP	483982	21074340	85969378	592	3973											
REM2	0	.	GRCh38	chr14	22886777	22886777	+	Frame_Shift_Del	DEL	G	G	-																															cccgatccgggcagccccgaGggccctgcgccacctgcacg																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.893delG	p.Gly298AlafsTer152	p.G298Afs*152	ENST00000267396	5/5	100	90	10	151	151	0	sindel-varindel-pindel	REM2,frameshift_variant,p.Gly298AlafsTer152,ENST00000267396,NM_173527.2;REM2,3_prime_UTR_variant,,ENST00000536884,;	-	ENST00000267396	Transcript	frameshift_variant	1014/1923	891/1023	297/340	E/X	gaG/ga		1		1	REM2	HGNC	HGNC:20248	protein_coding	YES	CCDS45082.1	ENSP00000267396	Q8IYK8		UPI00000716C5	NM_173527.2			5/5		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF270,hmmpanther:PTHR24070																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	10	22886777	22886777	G	-	1	0	1	0	1	0	0	0	0	13393	991	35	0		0	REM2	14	22886777	Frame_Shift_Del	DEL	G	C3L-00095_TP	1812437	22886777	84156941	593	3974											
CEBPE	0	.	GRCh38	chr14	23117556	23117556	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcggaagaggttgcggagGgtgtctagctcctgggtgag	6	9	20	6	2	1	2	0	1	1	1	2	4	2	4	1	6	2	2	1	6	2	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.777C>A	p.=	p.T259T	ENST00000206513	2/2	192	177	15	240	238	2	strelka-varscan-mutect	CEBPE,synonymous_variant,p.=,ENST00000206513,NM_001805.3;	T	ENST00000206513	Transcript	synonymous_variant	1302/1554	777/846	259/281	T	acC/acA		1		-1	CEBPE	HGNC	HGNC:1836	protein_coding	YES	CCDS9589.1	ENSP00000206513	Q15744		UPI000013C660	NM_001805.3			2/2		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF005879,PROSITE_profiles:PS50217,hmmpanther:PTHR23334,hmmpanther:PTHR23334:SF27,SMART_domains:SM00338,Superfamily_domains:SSF57959																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	23117556	23117556	G	T	1	0	0	0	0	0	0	0	1	2908	1219	43	2		2	CEBPE	14	23117556	Silent	SNP	G	C3L-00095_TP	230779	23117556	83926162	594	3975											
EFS	0	.	GRCh38	chr14	23360718	23360718	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtagggagcagaggcaccagCcgtccagtccaccagcgccc	9	3	13	16	2	0	1	0	0	0	1	2	2	2	2	6	2	3	3	6	2	1	1			C3L-00095_TP	C3L-00095_NB	C	C																c.134G>T	p.Gly45Val	p.G45V	ENST00000216733	2/6	236	224	12	287	285	2	strelka-varscan-mutect	EFS,missense_variant,p.Gly45Val,ENST00000216733,NM_005864.3;EFS,intron_variant,,ENST00000351354,NM_032459.2;EFS,intron_variant,,ENST00000429593,NM_001277174.1;RP11-124D2.3,downstream_gene_variant,,ENST00000554010,;	A	ENST00000216733	Transcript	missense_variant	742/3118	134/1686	45/561	G/V	gGc/gTc	COSM1191837	1		-1	EFS	HGNC	HGNC:16898	protein_coding	YES	CCDS9595.1	ENSP00000216733	O43281		UPI0000129D21	NM_005864.3	deleterious(0)		2/6		PROSITE_profiles:PS50002,hmmpanther:PTHR10654,hmmpanther:PTHR10654:SF14,Gene3D:2.30.30.40,Pfam_domain:PF14604,SMART_domains:SM00326,Superfamily_domains:SSF50044											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	10	23360718	23360718	C	A	1	0	0	0	0	1	0	0	0	4796	739	26	2		2	EFS	14	23360718	Missense_Mutation	SNP	C	C3L-00095_TP	243162	23360718	83683000	595	3976											
RPL10L	0	.	GRCh38	chr14	46651280	46651280	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacttgaacttggccctgcGcaaggcttcaatcacatgct	10	10	9	12	1	2	1	2	1	0	0	2	2	2	1	1	2	4	3	1	2	4	3	rs199562673		C3L-00095_TP	C3L-00095_NB	G	G																c.457C>G	p.Arg153Gly	p.R153G	ENST00000298283	1/1	277	240	37	300	300	0	strelka-varscan-mutect	RPL10L,missense_variant,p.Arg153Gly,ENST00000298283,NM_080746.2;	C	ENST00000298283	Transcript	missense_variant	542/812	457/645	153/214	R/G	Cgc/Ggc	rs199562673,COSM2197635	1		-1	RPL10L	HGNC	HGNC:17976	protein_coding	YES	CCDS32071.1	ENSP00000298283	Q96L21		UPI0000073CA8	NM_080746.2	deleterious(0)		1/1		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11726:SF11,hmmpanther:PTHR11726,Pfam_domain:PF00252,TIGRFAM_domain:TIGR00279,Gene3D:3.90.1170.10,PIRSF_domain:PIRSF005590,Superfamily_domains:SSF54686											0,1						MODERATE	1	SNV			0,1	1										PASS		rs199562673	.												C	3	2	10	46651280	46651280	G	C	1	0	0	0	0	1	0	0	0	13808	1087	38	4		4	RPL10L	14	46651280	Missense_Mutation	SNP	G	C3L-00095_TP	23290562	46651280	60392438	596	3977											
NID2	0	.	GRCh38	chr14	52053884	52053884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccttttaaatctgggcccCctacctctcccagagatgtt	7	12	8	14	0	2	1	0	0	2	1	3	2	2	1	5	2	1	1	5	2	3	4			C3L-00095_TP	C3L-00095_NB	C	C																c.1124G>A	p.Gly375Glu	p.G375E	ENST00000216286	5/22	172	159	13	199	198	1	strelka-varscan-mutect	NID2,missense_variant,p.Gly375Glu,ENST00000216286,NM_007361.3;NID2,intron_variant,,ENST00000617139,;	T	ENST00000216286	Transcript	missense_variant	1124/4811	1124/4128	375/1375	G/E	gGg/gAg	COSM553099	1		-1	NID2	HGNC	HGNC:13389	protein_coding	YES	CCDS9706.1	ENSP00000216286	Q14112		UPI000013C6E1	NM_007361.3	tolerated(1)		5/22													1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	10	52053884	52053884	C	T	1	0	0	0	0	1	0	0	0	10448	623	22	3		3	NID2	14	52053884	Missense_Mutation	SNP	C	C3L-00095_TP	5402604	52053884	54989834	597	3978											
TXNDC16	0	.	GRCh38	chr14	52439378	52439378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccctcaagattcctctccCcactggagtattctttctgc	6	14	6	15	0	4	1	1	0	3	1	6	2	5	2	4	1	2	1	4	1	2	4	rs779633860		C3L-00095_TP	C3L-00095_NB	C	C																c.2020G>T	p.Gly674Trp	p.G674W	ENST00000281741	20/21	187	174	13	197	197	0	strelka-varscan-mutect	TXNDC16,missense_variant,p.Gly674Trp,ENST00000281741,NM_001160047.1,NM_020784.2;TXNDC16,non_coding_transcript_exon_variant,,ENST00000554399,;	A	ENST00000281741	Transcript	missense_variant	2392/4564	2020/2478	674/825	G/W	Ggg/Tgg	rs779633860	1		-1	TXNDC16	HGNC	HGNC:19965	protein_coding	YES	CCDS32083.1	ENSP00000281741	Q9P2K2		UPI000059D245	NM_001160047.1,NM_020784.2	deleterious(0)		20/21		hmmpanther:PTHR22699,hmmpanther:PTHR22699:SF1,Pfam_domain:PF13848																	MODERATE	1	SNV	1			1										PASS		rs779633860	.												A	3	1	10	52439378	52439378	C	A	1	0	0	0	0	1	0	0	0	17311	623	22	2		2	TXNDC16	14	52439378	Missense_Mutation	SNP	C	C3L-00095_TP	385494	52439378	54604340	598	3979											
SIX4	0	.	GRCh38	chr14	60719883	60719883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatactggttaatttgcaCtggtgtagtaaaagtcacta	12	13	9	7	0	1	0	1	0	0	0	1	0	1	0	1	2	2	4	1	2	6	6	rs530684279		C3L-00095_TP	C3L-00095_NB	C	C																c.1426G>T	p.Val476Leu	p.V476L	ENST00000216513	2/3	287	270	17	322	321	1	strelka-varscan-mutect	SIX4,missense_variant,p.Val476Leu,ENST00000216513,NM_017420.4;SIX4,missense_variant,p.Val468Leu,ENST00000556952,;SIX4,non_coding_transcript_exon_variant,,ENST00000554079,;	A	ENST00000216513	Transcript	missense_variant	1486/6285	1426/2346	476/781	V/L	Gtg/Ttg	rs530684279	1		-1	SIX4	HGNC	HGNC:10890	protein_coding	YES	CCDS9749.2	ENSP00000216513	Q9UIU6		UPI000066D924	NM_017420.4	tolerated(0.56)		2/3		hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF36																	MODERATE	1	SNV	1			1										PASS		rs530684279	.												A	3	1	10	60719883	60719883	C	A	1	0	0	0	0	1	0	0	0	14612	565	20	2		2	SIX4	14	60719883	Missense_Mutation	SNP	C	C3L-00095_TP	8280505	60719883	46323835	599	3980											
SYNE2	0	.	GRCh38	chr14	64186472	64186472	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagaacttgaaagaacttCaaactatgaaggcggactta	16	9	8	8	1	2	4	2	2	0	2	2	5	2	5	0	2	3	0	0	2	7	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.17605C>T	p.Gln5869Ter	p.Q5869*	ENST00000358025	97/116	528	471	57	545	545	0	strelka-varscan-mutect	SYNE2,stop_gained,p.Gln5869Ter,ENST00000358025,NM_182914.2;SYNE2,stop_gained,p.Gln5869Ter,ENST00000344113,NM_015180.4;SYNE2,stop_gained,p.Gln2503Ter,ENST00000555002,;SYNE2,stop_gained,p.Gln2254Ter,ENST00000394768,;SYNE2,intron_variant,,ENST00000357395,;SYNE2,intron_variant,,ENST00000554584,;ESR2,intron_variant,,ENST00000556275,;SYNE2,stop_gained,p.Gln831Ter,ENST00000555612,;SYNE2,stop_gained,p.Gln454Ter,ENST00000553289,;	T	ENST00000358025	Transcript	stop_gained	17817/21842	17605/20724	5869/6907	Q/*	Caa/Taa		1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2			97/116		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF317,SMART_domains:SM00150,Superfamily_domains:SSF46966																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	10	64186472	64186472	C	T	1	0	0	0	0	0	1	0	0	15838	827	29	3		3	SYNE2	14	64186472	Nonsense_Mutation	SNP	C	C3L-00095_TP	3466589	64186472	42857246	600	3981											
SYNE2	0	.	GRCh38	chr14	64216370	64216370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccccctgcgtccagcaccCcttataaaccaccctatgta	9	10	4	18	1	0	0	0	0	0	0	2	0	2	0	7	0	3	2	7	0	5	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.19525C>T	p.Pro6509Ser	p.P6509S	ENST00000358025	108/116	437	377	60	489	487	2	strelka-varscan-mutect	SYNE2,missense_variant,p.Pro6509Ser,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Pro6486Ser,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Pro6434Ser,ENST00000357395,;SYNE2,missense_variant,p.Pro6428Ser,ENST00000554584,;SYNE2,missense_variant,p.Pro3143Ser,ENST00000555002,;SYNE2,missense_variant,p.Pro2871Ser,ENST00000394768,;SYNE2,missense_variant,p.Pro364Ser,ENST00000555022,;SYNE2,missense_variant,p.Pro269Ser,ENST00000554805,;SYNE2,missense_variant,p.Pro17Ser,ENST00000441438,NM_182910.2;SYNE2,missense_variant,p.Pro143Ser,ENST00000458046,NM_182913.2;ESR2,intron_variant,,ENST00000556275,;SYNE2,3_prime_UTR_variant,,ENST00000555612,;SYNE2,3_prime_UTR_variant,,ENST00000553289,;SYNE2,3_prime_UTR_variant,,ENST00000557084,;SYNE2,upstream_gene_variant,,ENST00000554928,;SYNE2,downstream_gene_variant,,ENST00000553806,;SYNE2,downstream_gene_variant,,ENST00000554997,;SYNE2,downstream_gene_variant,,ENST00000557307,;	T	ENST00000358025	Transcript	missense_variant	19737/21842	19525/20724	6509/6907	P/S	Cct/Tct		1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2	tolerated(0.09)		108/116		Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF317																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	64216370	64216370	C	T	1	0	0	0	0	1	0	0	0	15838	623	22	3		3	SYNE2	14	64216370	Missense_Mutation	SNP	C	C3L-00095_TP	29898	64216370	42827348	601	3982											
ZNF410	0	.	GRCh38	chr14	73898224	73898224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgattgctgctactcGtgcacaactggcaaagaatg	11	11	10	9	1	0	2	0	1	0	1	1	2	0	2	0	1	5	5	0	1	4	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.593G>T	p.Arg198Leu	p.R198L	ENST00000442160	6/14	394	347	47	547	546	1	strelka-varscan-mutect	ZNF410,missense_variant,p.Arg181Leu,ENST00000555044,NM_021188.2,NM_001242928.1;ZNF410,missense_variant,p.Arg181Leu,ENST00000324593,NM_001242926.1;ZNF410,missense_variant,p.Arg128Leu,ENST00000334521,;ZNF410,missense_variant,p.Arg198Leu,ENST00000442160,NM_001242924.1;ZNF410,missense_variant,p.Arg108Leu,ENST00000540593,NM_001242927.1;ZNF410,missense_variant,p.Arg198Leu,ENST00000615736,;ZNF410,missense_variant,p.Arg128Leu,ENST00000556797,;ZNF410,missense_variant,p.Arg128Leu,ENST00000557363,;ZNF410,downstream_gene_variant,,ENST00000556160,;ZNF410,downstream_gene_variant,,ENST00000556659,;ZNF410,downstream_gene_variant,,ENST00000557495,;ZNF410,downstream_gene_variant,,ENST00000555730,;ZNF410,downstream_gene_variant,,ENST00000554797,;RP5-1021I20.5,intron_variant,,ENST00000554009,;ZNF410,non_coding_transcript_exon_variant,,ENST00000412490,;ZNF410,non_coding_transcript_exon_variant,,ENST00000541357,;ZNF410,non_coding_transcript_exon_variant,,ENST00000555602,;ZNF410,missense_variant,p.Arg181Leu,ENST00000398139,;RP5-1021I20.4,3_prime_UTR_variant,,ENST00000556551,;ZNF410,3_prime_UTR_variant,,ENST00000556396,;ZNF410,3_prime_UTR_variant,,ENST00000554582,;	T	ENST00000442160	Transcript	missense_variant	787/2076	593/1551	198/516	R/L	cGt/cTt		1		1	ZNF410	HGNC	HGNC:20144	protein_coding	YES	CCDS55929.1	ENSP00000407130	Q86VK4		UPI00017A6BE1	NM_001242924.1	deleterious(0)		6/14																			MODERATE	1	SNV	1			1										PASS		rs1465082702	.												T	3	4	10	73898224	73898224	G	T	1	0	0	0	0	1	0	0	0	18462	1145	40	1		1	ZNF410	14	73898224	Missense_Mutation	SNP	G	C3L-00095_TP	9681854	73898224	33145494	602	3983											
TGFB3	0	.	GRCh38	chr14	75971584	75971584	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgatcctctgctcattccGcttagagctggggttgggca	5	12	12	12	2	2	1	1	0	1	1	5	2	4	1	2	3	2	5	2	3	1	3	rs142601521		C3L-00095_TP	C3L-00095_NB	G	G																c.487C>A	p.=	p.R163R	ENST00000238682	2/7	341	320	21	454	453	1	strelka-varscan-mutect	TGFB3,synonymous_variant,p.=,ENST00000238682,NM_003239.3;TGFB3,synonymous_variant,p.=,ENST00000556285,;RP11-270M14.5,non_coding_transcript_exon_variant,,ENST00000553732,;TGFB3,upstream_gene_variant,,ENST00000557493,;IFT43,intron_variant,,ENST00000555677,;TGFB3,upstream_gene_variant,,ENST00000554980,;	T	ENST00000238682	Transcript	synonymous_variant	785/2522	487/1239	163/412	R	Cgg/Agg	rs142601521	1		-1	TGFB3	HGNC	HGNC:11769	protein_coding	YES	CCDS9846.1	ENSP00000238682	P10600	A5YM40	UPI000000D8EC	NM_003239.3			2/7		hmmpanther:PTHR11848:SF34,hmmpanther:PTHR11848,Pfam_domain:PF00688,PIRSF_domain:PIRSF001787,Prints_domain:PR01423,Prints_domain:PR01426										uncertain_significance							LOW	1	SNV	1		1	1										PASS		rs142601521	.												T	2	4	10	75971584	75971584	G	T	1	0	0	0	0	0	0	0	1	16252	1086	38	1		1	TGFB3	14	75971584	Silent	SNP	G	C3L-00095_TP	2073360	75971584	31072134	603	3984											
KCNK13	0	.	GRCh38	chr14	90184901	90184901	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagatggccaacggctgcccCcaccagaccagcacactggc	10	3	11	17	1	0	2	0	0	0	2	0	3	0	2	5	3	3	2	5	3	1	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1125C>A	p.=	p.P375P	ENST00000282146	2/2	131	123	8	174	173	1	strelka-varscan-mutect	KCNK13,synonymous_variant,p.=,ENST00000282146,NM_022054.3;	A	ENST00000282146	Transcript	synonymous_variant	1566/2522	1125/1227	375/408	P	ccC/ccA		1		1	KCNK13	HGNC	HGNC:6275	protein_coding	YES	CCDS9889.1	ENSP00000282146	Q9HB14		UPI0000127A55	NM_022054.3			2/2		hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF57																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	90184901	90184901	C	A	1	0	0	0	0	0	0	0	1	7978	610	22	2		2	KCNK13	14	90184901	Silent	SNP	C	C3L-00095_TP	14213317	90184901	16858817	604	3985											
DDX24	0	.	GRCh38	chr14	94060481	94060481	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctgatgcaccagggtGagtgtggcagaaaaaacaag	14	5	15	7	0	0	3	0	2	0	1	0	4	0	4	2	3	3	2	2	3	4	0			C3L-00095_TP	C3L-00095_NB	G	G																c.1530C>A	p.=	p.L510L	ENST00000621632	5/9	321	294	27	452	449	3	strelka-varscan-mutect	DDX24,synonymous_variant,p.=,ENST00000621632,NM_020414.3;DDX24,synonymous_variant,p.=,ENST00000555054,;DDX24,synonymous_variant,p.=,ENST00000330836,;DDX24,synonymous_variant,p.=,ENST00000544005,;DDX24,synonymous_variant,p.=,ENST00000622786,;DDX24,upstream_gene_variant,,ENST00000553451,;DDX24,non_coding_transcript_exon_variant,,ENST00000555762,;	T	ENST00000621632	Transcript	synonymous_variant	1662/5612	1530/2580	510/859	L	ctC/ctA	COSM3815587	1		-1	DDX24	HGNC	HGNC:13266	protein_coding	YES	CCDS9918.1	ENSP00000481495	Q9GZR7		UPI0000129082	NM_020414.3			5/9		PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF91,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540											1						LOW	1	SNV	1		1	1										PASS		rs1311558427	.												T	2	4	10	94060481	94060481	G	T	1	0	0	0	0	0	0	0	1	4154	1277	45	2		2	DDX24	14	94060481	Silent	SNP	G	C3L-00095_TP	3875580	94060481	12983237	605	3986											
SERPINA10	0	.	GRCh38	chr14	94289941	94289941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taatctcatcaaacagtttgGgaattttcccccgagtctct	10	14	6	11	1	3	0	2	0	2	0	6	2	4	1	2	1	1	1	2	1	3	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.653C>A	p.Pro218His	p.P218H	ENST00000261994	2/5	237	209	28	370	369	1	strelka-varscan-mutect	SERPINA10,missense_variant,p.Pro218His,ENST00000261994,NM_001100607.2;SERPINA10,missense_variant,p.Pro258His,ENST00000554723,;SERPINA10,missense_variant,p.Pro218His,ENST00000393096,NM_016186.2;SERPINA10,missense_variant,p.Pro218His,ENST00000554173,;	T	ENST00000261994	Transcript	missense_variant	786/4978	653/1335	218/444	P/H	cCc/cAc		1		-1	SERPINA10	HGNC	HGNC:15996	protein_coding	YES	CCDS9923.1	ENSP00000261994	Q9UK55	A0A024R6I6	UPI000013C46E	NM_001100607.2	tolerated(0.06)		2/5		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF191,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		rs1348115369	.												T	3	4	10	94289941	94289941	G	T	1	0	0	0	0	1	0	0	0	14363	1232	43	2		2	SERPINA10	14	94289941	Missense_Mutation	SNP	G	C3L-00095_TP	229460	94289941	12753777	606	3987											
AK7	0	.	GRCh38	chr14	96458148	96458148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgaagaggaagaggaggaGgagaatgtggaagatgcaca	16	4	18	3	1	0	4	0	0	0	4	1	10	0	8	0	5	1	1	0	5	4	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1293G>T	p.Glu431Asp	p.E431D	ENST00000267584	12/18	153	139	14	203	201	2	strelka-varscan-mutect	AK7,missense_variant,p.Glu431Asp,ENST00000267584,NM_152327.3;RPL23AP10,upstream_gene_variant,,ENST00000489946,;	T	ENST00000267584	Transcript	missense_variant	1337/3300	1293/2172	431/723	E/D	gaG/gaT		1		1	AK7	HGNC	HGNC:20091	protein_coding	YES	CCDS9945.1	ENSP00000267584	Q96M32		UPI00001FDB1D	NM_152327.3	tolerated(0.52)		12/18		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs954819283	.												T	3	4	10	96458148	96458148	G	T	1	0	0	0	0	1	0	0	0	524	991	35	2		2	AK7	14	96458148	Missense_Mutation	SNP	G	C3L-00095_TP	2168207	96458148	10585570	607	3988											
HSP90AA1	0	.	GRCh38	chr14	102084515	102084515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaaaggagcacgtcgtGggacaaatagaagggctctg	14	6	14	7	2	2	1	1	0	1	1	3	4	2	3	0	3	1	2	0	3	5	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1397C>T	p.Pro466Leu	p.P466L	ENST00000334701	7/12	384	331	53	420	420	0	strelka-varscan-mutect	HSP90AA1,missense_variant,p.Pro466Leu,ENST00000334701,NM_001017963.2;HSP90AA1,missense_variant,p.Pro344Leu,ENST00000216281,NM_005348.3;HSP90AA1,downstream_gene_variant,,ENST00000553585,;HSP90AA1,3_prime_UTR_variant,,ENST00000554401,;HSP90AA1,non_coding_transcript_exon_variant,,ENST00000560130,;HSP90AA1,upstream_gene_variant,,ENST00000557089,;HSP90AA1,downstream_gene_variant,,ENST00000557234,;HSP90AA1,downstream_gene_variant,,ENST00000556554,;HSP90AA1,downstream_gene_variant,,ENST00000555662,;	A	ENST00000334701	Transcript	missense_variant	1679/3510	1397/2565	466/854	P/L	cCa/cTa		1		-1	HSP90AA1	HGNC	HGNC:5253	protein_coding	YES	CCDS32160.1	ENSP00000335153	P07900		UPI0000408144	NM_001017963.2	deleterious_low_confidence(0.01)		7/12		HAMAP:MF_00505,hmmpanther:PTHR11528,hmmpanther:PTHR11528:SF58,Pfam_domain:PF00183,PIRSF_domain:PIRSF002583,Superfamily_domains:SSF54211																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	102084515	102084515	G	A	1	0	0	0	0	1	0	0	0	7297	1348	47	3		3	HSP90AA1	14	102084515	Missense_Mutation	SNP	G	C3L-00095_TP	5626367	102084515	4959203	608	3989											
APOPT1	0	.	GRCh38	chr14	103590241	103590241	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaaagtggccctggaaagGatttggaacaagcttaaaca	16	7	12	6	0	0	0	0	0	0	0	0	4	0	4	1	5	3	1	1	5	7	2	rs549160910		C3L-00095_TP	C3L-00095_NB	G	G																c.576G>T	p.Arg192Ser	p.R192S	ENST00000409074	5/5	284	246	38	271	271	0	strelka-varscan-mutect	APOPT1,missense_variant,p.Arg192Ser,ENST00000409074,NM_032374.4,NM_001302652.1;APOPT1,missense_variant,p.Arg41Ser,ENST00000477116,;APOPT1,missense_variant,p.Gly58Val,ENST00000476323,;APOPT1,missense_variant,p.Arg41Ser,ENST00000473127,;APOPT1,missense_variant,p.Arg104Ser,ENST00000440963,;APOPT1,missense_variant,p.Arg41Ser,ENST00000492189,;APOPT1,3_prime_UTR_variant,,ENST00000556253,NM_001302653.1;RP11-73M18.2,intron_variant,,ENST00000472726,;KLC1,intron_variant,,ENST00000557172,;APOPT1,downstream_gene_variant,,ENST00000554876,;APOPT1,intron_variant,,ENST00000474271,;APOPT1,3_prime_UTR_variant,,ENST00000458117,;APOPT1,3_prime_UTR_variant,,ENST00000489117,;APOPT1,non_coding_transcript_exon_variant,,ENST00000557079,;APOPT1,downstream_gene_variant,,ENST00000555660,;	T	ENST00000409074	Transcript	missense_variant	577/2523	576/621	192/206	R/S	agG/agT	rs549160910	1		1	APOPT1	HGNC	HGNC:20492	protein_coding	YES	CCDS9983.2	ENSP00000386485	Q96IL0		UPI0000EE34A7	NM_032374.4,NM_001302652.1	tolerated(0.11)		5/5		hmmpanther:PTHR31107,hmmpanther:PTHR31107:SF2,Pfam_domain:PF10231																	MODERATE	1	SNV	1			1										PASS		rs549160910	.												T	3	4	10	103590241	103590241	G	T	1	0	0	0	0	1	0	0	0	937	1174	41	2		2	APOPT1	14	103590241	Missense_Mutation	SNP	G	C3L-00095_TP	1505726	103590241	3453477	609	3990											
APBA2	0	.	GRCh38	chr15	29098508	29098508	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattctgagggggatgccCagacgctgacggaagtggac	11	6	16	8	2	1	4	0	2	1	2	1	7	1	7	1	4	1	1	1	4	2	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1270C>A	p.Gln424Lys	p.Q424K	ENST00000558402	10/16	344	303	41	401	401	0	strelka-varscan-mutect	APBA2,missense_variant,p.Gln424Lys,ENST00000558402,;APBA2,missense_variant,p.Gln424Lys,ENST00000558259,NM_005503.3;APBA2,missense_variant,p.Gln412Lys,ENST00000411764,NM_001130414.1;APBA2,missense_variant,p.Gln412Lys,ENST00000558330,;APBA2,missense_variant,p.Gln424Lys,ENST00000561069,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;APBA2,non_coding_transcript_exon_variant,,ENST00000382938,;	A	ENST00000558402	Transcript	missense_variant	1869/4031	1270/2250	424/749	Q/K	Cag/Aag		1		1	APBA2	HGNC	HGNC:579	protein_coding	YES	CCDS10022.1	ENSP00000453293	Q99767		UPI0000046798		deleterious(0)		10/16		PROSITE_profiles:PS01179,hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12,Gene3D:2.30.29.30,Pfam_domain:PF00640,SMART_domains:SM00462,Superfamily_domains:SSF50729																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	29098508	29098508	C	A	1	0	0	0	0	1	0	0	0	877	595	21	2		2	APBA2	15	29098508	Missense_Mutation	SNP	C	C3L-00095_TP		29098508	72892681	610	3991											
GOLGA8T	0	.	GRCh38	chr15	30144778	30144778	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcaatattttggctccaGagcagctttatggaccacct	10	12	8	11	0	0	1	0	0	0	1	1	2	1	2	3	2	3	4	3	2	3	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1369-1G>T		p.X457_splice	ENST00000569052		208	185	23	246	246	0	varscan-mutect	GOLGA8T,splice_acceptor_variant,,ENST00000569052,;RN7SL469P,downstream_gene_variant,,ENST00000621501,;	T	ENST00000569052	Transcript	splice_acceptor_variant	-/1896	1369/1896	457/631				1		1	GOLGA8T	HGNC	HGNC:44410	protein_coding	YES		ENSP00000455826		H3BQL2	UPI000246730F					15/18																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	10	30144778	30144778	G	T	1	0	0	0	0	0	0	1	0	6458	956	33	2		2	GOLGA8T	15	30144778	Splice_Site	SNP	G	C3L-00095_TP	1046270	30144778	71846411	611	3992											
ARHGAP11B	0	.	GRCh38	chr15	30634382	30634382	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgaccacacagttcatgtAttaagatacttctttaactt	12	15	5	9	0	2	2	1	1	1	1	2	2	2	2	1	0	2	3	1	0	4	8	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.510A>G	p.=	p.V170V	ENST00000622744	4/11	296	275	21	323	323	0	varscan-mutect	ARHGAP11B,synonymous_variant,p.=,ENST00000622744,;ARHGAP11B,synonymous_variant,p.=,ENST00000428041,NM_001039841.1;ARHGAP11B,non_coding_transcript_exon_variant,,ENST00000564902,;ARHGAP11B,non_coding_transcript_exon_variant,,ENST00000566362,;ARHGAP11B,synonymous_variant,p.=,ENST00000563110,;ARHGAP11B,non_coding_transcript_exon_variant,,ENST00000568574,;	G	ENST00000622744	Transcript	synonymous_variant	1131/2042	510/804	170/267	V	gtA/gtG		1		1	ARHGAP11B	HGNC	HGNC:15782	protein_coding	YES	CCDS32185.1	ENSP00000481934	Q3KRB8		UPI000041D252				4/11		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR15670,hmmpanther:PTHR15670:SF5,SMART_domains:SM00324,Superfamily_domains:SSF48350																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	10	30634382	30634382	A	G	1	0	0	0	0	0	0	0	1	988	436	16	5		5	ARHGAP11B	15	30634382	Silent	SNP	A	C3L-00095_TP	489604	30634382	71356807	612	3993											
RYR3	0	.	GRCh38	chr15	33635662	33635662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacaagatccgatttttccGggtagagcgatcttatgcag	11	11	11	8	3	1	3	0	0	1	3	3	5	3	3	2	1	2	2	2	1	3	4			C3L-00095_TP	C3L-00095_NB	G	G																c.3224G>T	p.Arg1075Leu	p.R1075L	ENST00000634891	26/104	336	316	20	510	509	1	strelka-varscan-mutect	RYR3,missense_variant,p.Arg1075Leu,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Arg1075Leu,ENST00000622037,;RYR3,missense_variant,p.Arg1075Leu,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Arg1075Leu,ENST00000389232,;RYR3,missense_variant,p.Arg1075Leu,ENST00000634418,;	T	ENST00000634891	Transcript	missense_variant	3325/15591	3224/14613	1075/4870	R/L	cGg/cTg	COSM1372397	1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	deleterious(0)		26/104		PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16											1						MODERATE	1	SNV	1		1	1										PASS		rs944419972	.												T	3	4	10	33635662	33635662	G	T	1	0	0	0	0	1	0	0	0	14030	1116	39	1		1	RYR3	15	33635662	Missense_Mutation	SNP	G	C3L-00095_TP	3001280	33635662	68355527	613	3994											
TYRO3	0	.	GRCh38	chr15	41577885	41577885	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacgcttctctccaccccaGgtatgatctcatgtaccagt	8	12	6	15	1	3	1	2	1	2	0	6	1	4	1	4	1	1	3	4	1	2	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2283-1G>T		p.X761_splice	ENST00000263798		46	42	4	78	78	0	varscan-mutect	TYRO3,splice_acceptor_variant,,ENST00000263798,NM_006293.3;TYRO3,splice_acceptor_variant,,ENST00000559066,;TYRO3,splice_acceptor_variant,,ENST00000568343,;TYRO3,non_coding_transcript_exon_variant,,ENST00000568490,;TYRO3,downstream_gene_variant,,ENST00000560162,;TYRO3,downstream_gene_variant,,ENST00000559851,;	T	ENST00000263798	Transcript	splice_acceptor_variant	-/8207	2283/2673	761/890				1		1	TYRO3	HGNC	HGNC:12446	protein_coding	YES	CCDS10080.1	ENSP00000263798	Q06418		UPI000013788A	NM_006293.3				18/18																		HIGH	1	SNV	1			1										PASS		rs1416828115	.												T	5	4	10	41577885	41577885	G	T	1	0	0	0	0	0	0	1	0	17329	1014	35	2		2	TYRO3	15	41577885	Splice_Site	SNP	G	C3L-00095_TP	7942223	41577885	60413304	614	3995											
UBR1	0	.	GRCh38	chr15	43048433	43048433	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaaaagatcgaaaaccttCaaggaactgcattcttaatc	18	9	5	9	1	2	1	1	0	1	1	4	3	2	2	1	1	3	1	1	1	8	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1498G>C	p.Glu500Gln	p.E500Q	ENST00000290650	13/47	273	256	17	175	175	0	strelka-varscan-mutect	UBR1,missense_variant,p.Glu500Gln,ENST00000290650,NM_174916.2;UBR1,missense_variant,p.Glu500Gln,ENST00000546274,;UBR1,3_prime_UTR_variant,,ENST00000569971,;UBR1,intron_variant,,ENST00000563239,;	G	ENST00000290650	Transcript	missense_variant	1577/7761	1498/5250	500/1749	E/Q	Gaa/Caa		1		-1	UBR1	HGNC	HGNC:16808	protein_coding	YES	CCDS10091.1	ENSP00000290650	Q8IWV7		UPI0000074467	NM_174916.2	tolerated(0.06)		13/47		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF27																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	43048433	43048433	C	G	1	0	0	0	0	1	0	0	0	17425	835	29	4		4	UBR1	15	43048433	Missense_Mutation	SNP	C	C3L-00095_TP	1470548	43048433	58942756	615	3996											
UBR1	0	.	GRCh38	chr15	43048453	43048453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaggaactgcattcttaatCtttctgtccatattgtgggt	9	16	8	8	0	3	0	0	0	3	0	4	1	4	1	1	2	2	1	1	2	4	5	rs765893686		C3L-00095_TP	C3L-00095_NB	C	C																c.1478G>A	p.Arg493Lys	p.R493K	ENST00000290650	13/47	283	265	18	189	189	0	strelka-varscan-mutect	UBR1,missense_variant,p.Arg493Lys,ENST00000290650,NM_174916.2;UBR1,missense_variant,p.Arg493Lys,ENST00000546274,;UBR1,3_prime_UTR_variant,,ENST00000569971,;UBR1,intron_variant,,ENST00000563239,;	T	ENST00000290650	Transcript	missense_variant	1557/7761	1478/5250	493/1749	R/K	aGa/aAa	rs765893686	1		-1	UBR1	HGNC	HGNC:16808	protein_coding	YES	CCDS10091.1	ENSP00000290650	Q8IWV7		UPI0000074467	NM_174916.2	tolerated(0.77)		13/47		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF27																	MODERATE	1	SNV	1			1										PASS		rs765893686	.												T	3	4	10	43048453	43048453	C	T	1	0	0	0	0	1	0	0	0	17425	913	32	3		3	UBR1	15	43048453	Missense_Mutation	SNP	C	C3L-00095_TP	20	43048453	58942736	616	3997											
TGM5	0	.	GRCh38	chr15	43233346	43233346	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtttgaggactccaaggcTgcaacagagaatggagcatg	12	7	15	7	0	0	2	0	1	0	1	1	5	1	4	1	4	3	4	1	4	3	1	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.2010-2A>T		p.X670_splice	ENST00000220420		413	380	33	555	555	0	strelka-varscan-mutect	TGM5,splice_acceptor_variant,,ENST00000220420,NM_201631.3;TGM5,splice_acceptor_variant,,ENST00000610827,;TGM5,splice_acceptor_variant,,ENST00000611276,;TGM5,splice_acceptor_variant,,ENST00000622115,;TGM5,splice_acceptor_variant,,ENST00000349114,NM_004245.3;TGM5,splice_acceptor_variant,,ENST00000396996,;	A	ENST00000220420	Transcript	splice_acceptor_variant	-/2767	2010/2163	670/720				1		-1	TGM5	HGNC	HGNC:11781	protein_coding	YES	CCDS32212.1	ENSP00000220420	O43548		UPI0000136CCF	NM_201631.3				12/12																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	10	43233346	43233346	T	A	1	0	0	0	0	0	0	1	0	16266	1594	55	4		4	TGM5	15	43233346	Splice_Site	SNP	T	C3L-00095_TP	184893	43233346	58757843	617	3998											
STRC	0	.	GRCh38	chr15	43604054	43604054	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggctgctttcttggcAgcaagctgtggctccctaca	7	10	11	13	0	1	0	0	0	1	0	2	0	2	0	2	3	4	6	2	3	2	3	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.4317T>A	p.=	p.A1439A	ENST00000450892	22/29	252	224	28	376	376	0	varscan-mutect	STRC,synonymous_variant,p.=,ENST00000450892,NM_153700.2;STRC,synonymous_variant,p.=,ENST00000541030,;CKMT1B,downstream_gene_variant,,ENST00000300283,NM_020990.3;CKMT1B,downstream_gene_variant,,ENST00000441322,;RNU6-554P,downstream_gene_variant,,ENST00000410466,;CKMT1B,intron_variant,,ENST00000411560,;STRC,3_prime_UTR_variant,,ENST00000428650,;STRC,3_prime_UTR_variant,,ENST00000440125,;STRC,non_coding_transcript_exon_variant,,ENST00000485556,;STRC,non_coding_transcript_exon_variant,,ENST00000471703,;STRC,intron_variant,,ENST00000448437,;CKMT1B,downstream_gene_variant,,ENST00000437534,;STRC,downstream_gene_variant,,ENST00000455136,;STRC,upstream_gene_variant,,ENST00000460952,;STRC,upstream_gene_variant,,ENST00000493750,;	T	ENST00000450892	Transcript	synonymous_variant	4395/5680	4317/5328	1439/1775	A	gcT/gcA		1		-1	STRC	HGNC	HGNC:16035	protein_coding	YES	CCDS10098.1	ENSP00000401513	Q7RTU9		UPI000013E60F	NM_153700.2			22/29		hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF14,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	10	43604054	43604054	A	T	1	0	0	0	0	0	0	0	1	15709	175	7	4		4	STRC	15	43604054	Silent	SNP	A	C3L-00095_TP	370708	43604054	58387135	618	3999											
FBN1	0	.	GRCh38	chr15	48415650	48415650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattcattgatgtcttggCatcctccactgaactgttca	9	14	6	12	0	3	2	2	2	1	0	5	2	5	2	2	1	1	2	2	1	1	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.7937G>T	p.Cys2646Phe	p.C2646F	ENST00000316623	64/66	451	413	38	539	535	4	strelka-varscan-mutect	FBN1,missense_variant,p.Cys2646Phe,ENST00000316623,NM_000138.4;FBN1,non_coding_transcript_exon_variant,,ENST00000561429,;FBN1,3_prime_UTR_variant,,ENST00000559133,;	A	ENST00000316623	Transcript	missense_variant	8393/11756	7937/8616	2646/2871	C/F	tGc/tTc		1		-1	FBN1	HGNC	HGNC:3603	protein_coding	YES	CCDS32232.1	ENSP00000325527	P35555		UPI0000EE4EBC	NM_000138.4	deleterious(0)		64/66		Gene3D:2.10.25.10,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01186,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	48415650	48415650	C	A	1	0	0	0	0	1	0	0	0	5565	710	25	2		2	FBN1	15	48415650	Missense_Mutation	SNP	C	C3L-00095_TP	4811596	48415650	53575539	619	4000											
UNC13C	0	.	GRCh38	chr15	54014226	54014226	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctactccagagccaaaaatCaagaagaacaattggcagtc	17	7	7	10	0	2	3	1	0	1	3	4	3	3	3	2	1	3	1	2	1	7	2			C3L-00095_TP	C3L-00095_NB	C	C																c.1323C>T	p.=	p.I441I	ENST00000260323	1/32	192	173	19	214	214	0	strelka-varscan-mutect	UNC13C,synonymous_variant,p.=,ENST00000260323,NM_001080534.1;	T	ENST00000260323	Transcript	synonymous_variant	1323/12946	1323/6645	441/2214	I	atC/atT	COSM4804175,COSM4804176,COSM4804177	1		1	UNC13C	HGNC	HGNC:23149	protein_coding	YES	CCDS45264.1	ENSP00000260323	Q8NB66		UPI0000DD82AB	NM_001080534.1			1/32		hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2											1,1,1						LOW	1	SNV	5		1,1,1	1										PASS		rs746069739	.												T	2	4	10	54014226	54014226	C	T	1	0	0	0	0	0	0	0	1	17510	816	29	3		3	UNC13C	15	54014226	Silent	SNP	C	C3L-00095_TP	5598576	54014226	47976963	620	4001											
PIF1	0	.	GRCh38	chr15	64821417	64821417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgcctccaccattgagatCtcgtcaatgaccaaccgctg	9	10	7	15	2	3	2	1	2	2	1	5	3	4	2	5	0	2	1	5	0	2	1			C3L-00095_TP	C3L-00095_NB	C	C																c.921G>C	p.Glu307Asp	p.E307D	ENST00000333425	5/13	73	67	6	100	100	0	strelka-varscan-mutect	PIF1,missense_variant,p.Glu307Asp,ENST00000268043,NM_001286499.1,NM_025049.3,NM_001286496.1;PIF1,missense_variant,p.Glu307Asp,ENST00000559239,;PIF1,missense_variant,p.Glu307Asp,ENST00000333425,NM_001286497.1;PIF1,non_coding_transcript_exon_variant,,ENST00000558380,;PIF1,non_coding_transcript_exon_variant,,ENST00000558547,;PIF1,downstream_gene_variant,,ENST00000560444,;PIF1,downstream_gene_variant,,ENST00000560504,;PIF1,upstream_gene_variant,,ENST00000559522,;PIF1,upstream_gene_variant,,ENST00000559872,;	G	ENST00000333425	Transcript	missense_variant	1016/2278	921/2124	307/707	E/D	gaG/gaC	COSM1608592,COSM3706681	1		-1	PIF1	HGNC	HGNC:26220	protein_coding	YES	CCDS66797.1	ENSP00000328174	Q9H611		UPI00005DB2E0	NM_001286497.1	deleterious(0)		5/13		Gene3D:3.40.50.300,HAMAP:MF_03176,Pfam_domain:PF05970,hmmpanther:PTHR23274,Superfamily_domains:SSF52540											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	10	64821417	64821417	C	G	1	0	0	0	0	1	0	0	0	11976	912	32	4		4	PIF1	15	64821417	Missense_Mutation	SNP	C	C3L-00095_TP	10807191	64821417	37169772	621	4002											
IGDCC3	0	.	GRCh38	chr15	65334763	65334763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acacaatggggcgcgggttgCccgtggcgacacactcaagc	9	5	14	13	4	1	0	1	0	0	0	1	1	1	0	1	4	2	1	1	4	2	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.788G>T	p.Gly263Val	p.G263V	ENST00000327987	5/14	80	74	6	88	88	0	strelka-mutect	IGDCC3,missense_variant,p.Gly263Val,ENST00000327987,NM_004884.3;IGDCC3,missense_variant,p.Gly126Val,ENST00000558354,;IGDCC3,downstream_gene_variant,,ENST00000559058,;IGDCC3,upstream_gene_variant,,ENST00000559231,;	A	ENST00000327987	Transcript	missense_variant	1040/4479	788/2445	263/814	G/V	gGc/gTc		1		-1	IGDCC3	HGNC	HGNC:9700	protein_coding	YES	CCDS10205.1	ENSP00000332773	Q8IVU1		UPI000019908F	NM_004884.3	deleterious(0)		5/14		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF106,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs918855313	.												A	3	1	10	65334763	65334763	C	A	1	0	0	0	0	1	0	0	0	7474	739	26	2		2	IGDCC3	15	65334763	Missense_Mutation	SNP	C	C3L-00095_TP	513346	65334763	36656426	622	4003											
THSD4	0	.	GRCh38	chr15	71243026	71243026	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcaactcagagcttctCtcagcctgcccgatctacag	8	9	10	14	1	4	1	2	0	2	1	5	2	4	1	2	2	5	2	2	2	2	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.842C>A	p.Ser281Tyr	p.S281Y	ENST00000355327	5/18	113	103	10	159	159	0	strelka-varscan-mutect	THSD4,missense_variant,p.Ser281Tyr,ENST00000355327,NM_024817.2;	A	ENST00000355327	Transcript	missense_variant	976/9200	842/3057	281/1018	S/Y	tCt/tAt		1		1	THSD4	HGNC	HGNC:25835	protein_coding	YES	CCDS10238.2	ENSP00000347484	Q6ZMP0		UPI00001A797D	NM_024817.2	tolerated(1)		5/18		PROSITE_profiles:PS50092																	MODERATE	1	SNV	5			1										PASS		rs1490838746	.												A	3	1	10	71243026	71243026	C	A	1	0	0	0	0	1	0	0	0	16312	913	32	2		2	THSD4	15	71243026	Missense_Mutation	SNP	C	C3L-00095_TP	5908263	71243026	30748163	623	4004											
ISLR2	0	.	GRCh38	chr15	74133057	74133057	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccgtgctgagtcagctCaagaacctcgatctgagcca	9	8	11	13	2	3	3	2	2	1	1	4	4	3	3	3	1	4	2	3	1	2	0			C3L-00095_TP	C3L-00095_NB	C	C																c.303C>A	p.=	p.L101L	ENST00000361742	4/4	252	231	21	281	280	1	strelka-varscan-mutect	ISLR2,synonymous_variant,p.=,ENST00000361742,NM_001130136.1;ISLR2,synonymous_variant,p.=,ENST00000435464,NM_001130138.1;ISLR2,synonymous_variant,p.=,ENST00000565159,NM_001130137.1;ISLR2,synonymous_variant,p.=,ENST00000453268,NM_020851.2;ISLR2,synonymous_variant,p.=,ENST00000565540,;ISLR2,synonymous_variant,p.=,ENST00000419208,;ISLR2,synonymous_variant,p.=,ENST00000561740,;ISLR2,synonymous_variant,p.=,ENST00000565332,;ISLR2,downstream_gene_variant,,ENST00000569886,;ISLR2,downstream_gene_variant,,ENST00000567206,;RP11-247C2.2,upstream_gene_variant,,ENST00000563727,;RP11-247C2.2,upstream_gene_variant,,ENST00000514871,;ISLR2,intron_variant,,ENST00000561975,;ISLR2,downstream_gene_variant,,ENST00000565068,;	A	ENST00000361742	Transcript	synonymous_variant	1072/4817	303/2238	101/745	L	ctC/ctA	COSM4855582	1		1	ISLR2	HGNC	HGNC:29286	protein_coding	YES	CCDS10259.1	ENSP00000355402	Q6UXK2		UPI000004C60F	NM_001130136.1			4/4		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF15,SMART_domains:SM00369,Superfamily_domains:SSF52058											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	10	74133057	74133057	C	A	1	0	0	0	0	0	0	0	1	7766	813	29	2		2	ISLR2	15	74133057	Silent	SNP	C	C3L-00095_TP	2890031	74133057	27858132	624	4005											
CSPG4	0	.	GRCh38	chr15	75688344	75688344	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaccctcaggcaccacGaggaggacattggtgaggac	11	5	12	13	1	2	1	2	1	0	0	2	5	2	4	3	5	0	1	3	5	0	1	rs146393812		C3L-00095_TP	C3L-00095_NB	G	G																c.2721C>A	p.=	p.L907L	ENST00000308508	3/10	174	164	10	237	236	1	strelka-varscan-mutect	CSPG4,synonymous_variant,p.=,ENST00000308508,NM_001897.4;	T	ENST00000308508	Transcript	synonymous_variant	2814/8290	2721/6969	907/2322	L	ctC/ctA	rs146393812	1		-1	CSPG4	HGNC	HGNC:2466	protein_coding	YES	CCDS10284.1	ENSP00000312506	Q6UVK1		UPI00001AEEB6	NM_001897.4			3/10		hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF16,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs146393812	.												T	2	4	10	75688344	75688344	G	T	1	0	0	0	0	0	0	0	1	3761	1045	37	1		1	CSPG4	15	75688344	Silent	SNP	G	C3L-00095_TP	1555287	75688344	26302845	625	4006											
ACAN	0	.	GRCh38	chr15	88854985	88854985	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcccctcagaggagccatcCccctcagaggaaccattccc	9	7	7	18	0	2	2	2	0	0	2	5	4	5	4	7	2	2	0	7	2	1	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2400C>A	p.=	p.S800S	ENST00000439576	12/18	69	58	11	86	86	0	strelka-varscan-mutect	ACAN,synonymous_variant,p.=,ENST00000439576,NM_013227.3;ACAN,synonymous_variant,p.=,ENST00000617301,;ACAN,synonymous_variant,p.=,ENST00000559004,;ACAN,synonymous_variant,p.=,ENST00000561243,;ACAN,synonymous_variant,p.=,ENST00000352105,NM_001135.3;ACAN,downstream_gene_variant,,ENST00000558207,;ACAN,upstream_gene_variant,,ENST00000560601,;	A	ENST00000439576	Transcript	synonymous_variant	2774/8840	2400/7593	800/2530	S	tcC/tcA		1		1	ACAN	HGNC	HGNC:319	protein_coding	YES	CCDS53970.1	ENSP00000387356		E7EX88	UPI0001B23381	NM_013227.3			12/18		Low_complexity_(Seg):seg,hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	10	88854985	88854985	C	A	1	0	0	0	0	0	0	0	1	160	610	22	2		2	ACAN	15	88854985	Silent	SNP	C	C3L-00095_TP	13166641	88854985	13136204	626	4007											
ARPIN	0	.	GRCh38	chr15	89908370	89908370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggcgtcgaatttacggcGatggatgtgactgggccgga	7	10	16	8	5	0	1	0	1	0	0	1	5	0	3	1	5	1	0	1	5	2	3	rs374275505		C3L-00095_TP	C3L-00095_NB	G	G																c.211C>T	p.Arg71Cys	p.R71C	ENST00000357484	3/6	234	206	28	299	299	0	strelka-varscan-mutect	ARPIN,missense_variant,p.Arg71Cys,ENST00000357484,NM_182616.3;C15orf38-AP3S2,missense_variant,p.Arg71Cys,ENST00000398333,NM_001199058.1;ARPIN,5_prime_UTR_variant,,ENST00000460685,NM_001282380.1;C15orf38-AP3S2,5_prime_UTR_variant,,ENST00000559629,;C15orf38-AP3S2,5_prime_UTR_variant,,ENST00000558648,;ARPIN,upstream_gene_variant,,ENST00000560096,;	A	ENST00000357484	Transcript	missense_variant	332/7591	211/681	71/226	R/C	Cgc/Tgc	rs374275505,COSM3402007	1		-1	ARPIN	HGNC	HGNC:28782	protein_coding	YES	CCDS42080.1	ENSP00000350075	Q7Z6K5		UPI0000161A90	NM_182616.3	tolerated(0.07)		3/6		Pfam_domain:PF10574,hmmpanther:PTHR31199,hmmpanther:PTHR31199:SF1											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs374275505	.												A	3	1	10	89908370	89908370	G	A	1	0	0	0	0	1	0	0	0	1119	1058	37	1		1	ARPIN	15	89908370	Missense_Mutation	SNP	G	C3L-00095_TP	1053385	89908370	12082819	627	4008											
ZNF774	0	.	GRCh38	chr15	90360410	90360410	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcttcaaacagagctcagaCcttgtcacccatcgcagaac	12	7	8	14	1	3	3	3	0	0	3	4	3	3	3	2	1	3	3	2	1	2	2	rs779514301		C3L-00095_TP	C3L-00095_NB	C	C																c.579C>T	p.=	p.D193D	ENST00000354377	4/4	149	134	15	154	154	0	strelka-varscan-mutect	ZNF774,synonymous_variant,p.=,ENST00000354377,NM_001004309.2;ZNF774,intron_variant,,ENST00000379090,;ZNF774,downstream_gene_variant,,ENST00000558586,;ZNF774,non_coding_transcript_exon_variant,,ENST00000558115,;ZNF774,downstream_gene_variant,,ENST00000560038,;	T	ENST00000354377	Transcript	synonymous_variant	765/3202	579/1452	193/483	D	gaC/gaT	rs779514301	1		1	ZNF774	HGNC	HGNC:33108	protein_coding	YES	CCDS32330.1	ENSP00000346348	Q6NX45		UPI00001A73D8	NM_001004309.2			4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF66,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		rs779514301	.												T	2	4	10	90360410	90360410	C	T	1	0	0	0	0	0	0	0	1	18730	506	18	3		3	ZNF774	15	90360410	Silent	SNP	C	C3L-00095_TP	452040	90360410	11630779	628	4009											
CHSY1	0	.	GRCh38	chr15	101177938	101177938	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagattcattgttaaacTgggaggatcctacttccagg	12	11	10	8	0	1	1	1	0	0	1	3	3	3	3	2	3	2	2	2	3	4	5	rs372012197		C3L-00095_TP	C3L-00095_NB	T	T																c.1859A>T	p.Gln620Leu	p.Q620L	ENST00000254190	3/3	279	252	27	371	371	0	strelka-varscan-mutect	CHSY1,missense_variant,p.Gln620Leu,ENST00000254190,NM_014918.4;CHSY1,non_coding_transcript_exon_variant,,ENST00000543813,;CHSY1,downstream_gene_variant,,ENST00000561414,;CHSY1,downstream_gene_variant,,ENST00000560766,;	A	ENST00000254190	Transcript	missense_variant	2335/4550	1859/2409	620/802	Q/L	cAg/cTg	rs372012197	1		-1	CHSY1	HGNC	HGNC:17198	protein_coding	YES	CCDS10390.1	ENSP00000254190	Q86X52		UPI000000DB6C	NM_014918.4	tolerated(0.15)		3/3		hmmpanther:PTHR12369:SF16,hmmpanther:PTHR12369,Gene3D:3.90.550.10,Pfam_domain:PF05679,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		rs372012197	.												A	3	1	10	101177938	101177938	T	A	1	0	0	0	0	1	0	0	0	3172	1580	55	4		4	CHSY1	15	101177938	Missense_Mutation	SNP	T	C3L-00095_TP	10817528	101177938	813251	629	4010											
RHBDF1	0	.	GRCh38	chr16	61395	61395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtcctcaccgagctgggcCcgatccagaagttctcctgc	6	8	10	17	3	2	1	1	0	1	1	5	3	4	1	6	1	2	2	6	1	1	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1385G>T	p.Gly462Val	p.G462V	ENST00000262316	10/18	257	242	15	310	309	1	strelka-varscan-mutect	RHBDF1,missense_variant,p.Gly462Val,ENST00000262316,NM_022450.3;SNRNP25,downstream_gene_variant,,ENST00000293861,;SNRNP25,downstream_gene_variant,,ENST00000383018,NM_024571.3;RHBDF1,upstream_gene_variant,,ENST00000448893,;RHBDF1,downstream_gene_variant,,ENST00000450643,;RHBDF1,downstream_gene_variant,,ENST00000419764,;SNRNP25,downstream_gene_variant,,ENST00000417493,;RHBDF1,3_prime_UTR_variant,,ENST00000428730,;RHBDF1,downstream_gene_variant,,ENST00000487201,;SNRNP25,downstream_gene_variant,,ENST00000481947,;SNRNP25,downstream_gene_variant,,ENST00000466183,;RHBDF1,upstream_gene_variant,,ENST00000493647,;RHBDF1,upstream_gene_variant,,ENST00000486045,;SNRNP25,downstream_gene_variant,,ENST00000397876,;RHBDF1,downstream_gene_variant,,ENST00000417043,;RHBDF1,downstream_gene_variant,,ENST00000472390,;RHBDF1,downstream_gene_variant,,ENST00000482904,;	A	ENST00000262316	Transcript	missense_variant	1528/2992	1385/2568	462/855	G/V	gGg/gTg		1		-1	RHBDF1	HGNC	HGNC:20561	protein_coding	YES	CCDS32344.1	ENSP00000262316	Q96CC6		UPI00001A5206	NM_022450.3	deleterious(0)		10/18		hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF26																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	61395	61395	C	A	1	0	0	0	0	1	0	0	0	13491	623	22	2		2	RHBDF1	16	61395	Missense_Mutation	SNP	C	C3L-00095_TP		61395	90276950	630	4011											
CAPN15	0	.	GRCh38	chr16	552492	552492	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgctgcgccttcaaccActgggggccgcccctgccgg	3	7	15	16	3	1	0	1	0	0	0	1	0	1	0	6	4	4	1	6	4	1	1	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.2699A>T	p.His900Leu	p.H900L	ENST00000219611	11/14	306	281	25	380	379	1	strelka-varscan-mutect	CAPN15,missense_variant,p.His900Leu,ENST00000219611,NM_005632.2;CAPN15,downstream_gene_variant,,ENST00000637507,;CAPN15,downstream_gene_variant,,ENST00000568988,;CAPN15,upstream_gene_variant,,ENST00000566977,;LA16c-366D1.3,intron_variant,,ENST00000565879,;CAPN15,non_coding_transcript_exon_variant,,ENST00000565010,;	T	ENST00000219611	Transcript	missense_variant	3062/4744	2699/3261	900/1086	H/L	cAc/cTc		1		1	CAPN15	HGNC	HGNC:11182	protein_coding	YES	CCDS10410.1	ENSP00000219611	O75808		UPI0000071B68	NM_005632.2	deleterious(0)		11/14		hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF294																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	552492	552492	A	T	1	0	0	0	0	1	0	0	0	2320	159	6	4		4	CAPN15	16	552492	Missense_Mutation	SNP	A	C3L-00095_TP	491097	552492	89785853	631	4012											
ZG16B	0	.	GRCh38	chr16	2830472	2830472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctcacgcttgccctcctgGggggccccacctgggcaggg	3	7	15	16	1	1	0	1	0	0	0	2	0	2	0	5	5	2	3	5	5	0	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.139G>T	p.Gly47Trp	p.G47W	ENST00000382280	2/4	109	100	9	155	154	1	strelka-varscan-mutect	ZG16B,missense_variant,p.Gly46Trp,ENST00000570670,;ZG16B,missense_variant,p.Gly47Trp,ENST00000382280,NM_145252.2;ZG16B,missense_variant,p.Gly17Trp,ENST00000572863,;ZG16B,missense_variant,p.Gly28Trp,ENST00000571723,;PRSS21,downstream_gene_variant,,ENST00000575739,;ZG16B,non_coding_transcript_exon_variant,,ENST00000576423,;ZG16B,non_coding_transcript_exon_variant,,ENST00000573019,;	T	ENST00000382280	Transcript	missense_variant	218/831	139/627	47/208	G/W	Ggg/Tgg		1		1	ZG16B	HGNC	HGNC:30456	protein_coding	YES	CCDS10479.2	ENSP00000371715	Q96DA0	G8H6I3	UPI000059D2F8	NM_145252.2	deleterious(0.05)		2/4		hmmpanther:PTHR33589,hmmpanther:PTHR33589:SF1																	MODERATE	1	SNV	1			1										PASS		rs1455625210	.												T	3	4	10	2830472	2830472	G	T	1	0	0	0	0	1	0	0	0	18250	1232	43	2		2	ZG16B	16	2830472	Missense_Mutation	SNP	G	C3L-00095_TP	2277980	2830472	87507873	632	4013											
OR2C1	0	.	GRCh38	chr16	3356382	3356382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctgctggctgtgattGcctgcctgggtggcttgggc	1	12	18	10	0	0	1	0	1	0	0	0	1	0	1	2	5	3	5	2	5	0	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.442G>T	p.Ala148Ser	p.A148S	ENST00000304936	1/1	257	237	20	308	307	1	strelka-varscan-mutect	OR2C1,missense_variant,p.Ala148Ser,ENST00000304936,NM_012368.2;	T	ENST00000304936	Transcript	missense_variant	494/1406	442/939	148/312	A/S	Gcc/Tcc		1		1	OR2C1	HGNC	HGNC:8242	protein_coding	YES	CCDS10502.1	ENSP00000307726	O95371		UPI000013E9E9	NM_012368.2	tolerated(0.52)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	10	3356382	3356382	G	T	1	0	0	0	0	1	0	0	0	11071	1319	46	2		2	OR2C1	16	3356382	Missense_Mutation	SNP	G	C3L-00095_TP	525910	3356382	86981963	633	4014											
ANKS3	0	.	GRCh38	chr16	4729993	4729993	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttaccgctgcacacactCcttcaccacttcatactggc	8	11	4	18	1	3	0	2	0	1	0	4	0	4	0	3	1	3	2	3	1	2	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.157G>T	p.Glu53Ter	p.E53*	ENST00000304283	3/18	32	25	7	49	49	0	strelka-varscan-mutect	ANKS3,stop_gained,p.Glu53Ter,ENST00000304283,NM_133450.3;ANKS3,stop_gained,p.Glu53Ter,ENST00000614075,;ANKS3,stop_gained,p.Glu53Ter,ENST00000450067,NM_001242929.1;ANKS3,stop_gained,p.Glu53Ter,ENST00000592421,;ANKS3,stop_gained,p.Glu53Ter,ENST00000590147,;ANKS3,stop_gained,p.Glu53Ter,ENST00000592711,;ANKS3,stop_gained,p.Glu53Ter,ENST00000592190,;ANKS3,stop_gained,p.Glu53Ter,ENST00000589065,;ANKS3,5_prime_UTR_variant,,ENST00000446014,NM_001308089.1;ANKS3,5_prime_UTR_variant,,ENST00000592698,;ANKS3,intron_variant,,ENST00000585773,;ANKS3,intron_variant,,ENST00000586605,;ANKS3,intron_variant,,ENST00000586166,;C16orf71,upstream_gene_variant,,ENST00000299320,NM_139170.2;C16orf71,upstream_gene_variant,,ENST00000590191,;C16orf71,upstream_gene_variant,,ENST00000586724,;RP11-127I20.7,downstream_gene_variant,,ENST00000588099,;ANKS3,stop_gained,p.Glu53Ter,ENST00000592077,;ANKS3,stop_gained,p.Glu53Ter,ENST00000590193,;ANKS3,stop_gained,p.Glu53Ter,ENST00000590730,;ANKS3,stop_gained,p.Glu53Ter,ENST00000592068,;ANKS3,stop_gained,p.Glu53Ter,ENST00000586159,;ANKS3,stop_gained,p.Glu53Ter,ENST00000587005,;ANKS3,stop_gained,p.Glu53Ter,ENST00000591281,;ANKS3,non_coding_transcript_exon_variant,,ENST00000590689,;ANKS3,non_coding_transcript_exon_variant,,ENST00000593120,;C16orf71,upstream_gene_variant,,ENST00000586256,;ANKS3,upstream_gene_variant,,ENST00000591653,;ANKS3,upstream_gene_variant,,ENST00000590803,;ANKS3,upstream_gene_variant,,ENST00000586632,;	A	ENST00000304283	Transcript	stop_gained	452/2662	157/1971	53/656	E/*	Gag/Tag		1		-1	ANKS3	HGNC	HGNC:29422	protein_coding	YES	CCDS10520.1	ENSP00000304586	Q6ZW76		UPI00001C08FE	NM_133450.3			3/18		PROSITE_profiles:PS50297,hmmpanther:PTHR24184:SF6,hmmpanther:PTHR24184,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403																	HIGH		SNV	2			1										PASS		.	.												A	4	1	10	4729993	4729993	C	A	1	0	0	0	0	0	1	0	0	796	864	30	2		2	ANKS3	16	4729993	Nonsense_Mutation	SNP	C	C3L-00095_TP	1373611	4729993	85608352	634	4015											
SHISA9	0	.	GRCh38	chr16	13235113	13235113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaacttacctctgcaccccGtaagagtggaggacgagccc	10	6	12	13	2	1	1	0	0	1	1	1	5	1	4	4	3	4	2	4	3	3	2	rs774111296		C3L-00095_TP	C3L-00095_NB	G	G																c.979G>T	p.Val327Leu	p.V327L	ENST00000558583	5/5	189	177	12	250	250	0	strelka-mutect	SHISA9,missense_variant,p.Val327Leu,ENST00000558583,NM_001145204.2;SHISA9,non_coding_transcript_exon_variant,,ENST00000566106,;	T	ENST00000558583	Transcript	missense_variant	1424/6724	979/1275	327/424	V/L	Gta/Tta	rs774111296,COSM1166403	1		1	SHISA9	HGNC	HGNC:37231	protein_coding	YES	CCDS45417.2	ENSP00000454014	B4DS77		UPI0001CE6F1C	NM_001145204.2	tolerated(0.29)		5/5		hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF1											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs774111296	.												T	3	4	10	13235113	13235113	G	T	1	0	0	0	0	1	0	0	0	14546	1145	40	1		1	SHISA9	16	13235113	Missense_Mutation	SNP	G	C3L-00095_TP	8505120	13235113	77103232	635	4016											
SMG1	0	.	GRCh38	chr16	18850123	18850123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggtcatcctcatctaaagGaatctaagagtgaaagatga	16	9	10	6	0	4	4	2	2	2	2	5	5	5	5	1	2	0	0	1	2	5	2			C3L-00095_TP	C3L-00095_NB	G	G																c.5287C>T	p.Pro1763Ser	p.P1763S	ENST00000446231	35/63	140	130	10	167	167	0	strelka-varscan-mutect	SMG1,missense_variant,p.Pro1763Ser,ENST00000446231,NM_015092.4;SMG1,missense_variant,p.Pro1653Ser,ENST00000565324,;SMG1,non_coding_transcript_exon_variant,,ENST00000563448,;SMG1,upstream_gene_variant,,ENST00000562668,;	A	ENST00000446231	Transcript	missense_variant	5700/16115	5287/10986	1763/3661	P/S	Cct/Tct	COSM48772	1		-1	SMG1	HGNC	HGNC:30045	protein_coding	YES	CCDS45430.1	ENSP00000402515	Q96Q15		UPI00004F8E22	NM_015092.4	tolerated_low_confidence(0.89)		35/63		PROSITE_profiles:PS51189,Superfamily_domains:SSF48371											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	10	18850123	18850123	G	A	1	0	0	0	0	1	0	0	0	15089	1188	41	3		3	SMG1	16	18850123	Missense_Mutation	SNP	G	C3L-00095_TP	5615010	18850123	71488222	636	4017											
UMOD	0	.	GRCh38	chr16	20349105	20349105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaatggcgcactcatccaGgtccacgcaggtcaggccat	10	6	12	13	2	2	0	2	0	0	0	4	1	4	1	3	5	0	2	3	5	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.295C>A	p.Leu99Met	p.L99M	ENST00000396134	4/12	485	452	33	596	594	2	strelka-varscan-mutect	UMOD,missense_variant,p.Leu66Met,ENST00000302509,NM_001008389.2,NM_003361.3;UMOD,missense_variant,p.Leu99Met,ENST00000396134,NM_001278614.1;UMOD,missense_variant,p.Leu115Met,ENST00000396138,;UMOD,missense_variant,p.Leu66Met,ENST00000570689,;UMOD,missense_variant,p.Leu120Met,ENST00000574195,;UMOD,missense_variant,p.Leu66Met,ENST00000571174,;UMOD,missense_variant,p.Leu94Met,ENST00000577168,;UMOD,missense_variant,p.Leu89Met,ENST00000573567,;UMOD,missense_variant,p.Leu66Met,ENST00000576546,;UMOD,missense_variant,p.Leu66Met,ENST00000570757,;UMOD,missense_variant,p.Leu66Met,ENST00000576688,;UMOD,downstream_gene_variant,,ENST00000570972,;	T	ENST00000396134	Transcript	missense_variant	419/2408	295/2022	99/673	L/M	Ctg/Atg		1		-1	UMOD	HGNC	HGNC:12559	protein_coding	YES	CCDS61876.1	ENSP00000379438	P07911		UPI000059D336	NM_001278614.1	tolerated(0.08)		4/12		PROSITE_profiles:PS50026,hmmpanther:PTHR24044:SF263,hmmpanther:PTHR24044,PROSITE_patterns:PS01187,Gene3D:2.40.155.10,Pfam_domain:PF07645,SMART_domains:SM00179,Superfamily_domains:SSF57184																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	10	20349105	20349105	G	T	1	0	0	0	0	1	0	0	0	17503	991	35	2		2	UMOD	16	20349105	Missense_Mutation	SNP	G	C3L-00095_TP	1498982	20349105	69989240	637	4018											
ACSM2A	0	.	GRCh38	chr16	20471144	20471144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccatctacttcactagtgGgaccagtggtcttcccaaga	9	11	9	12	0	3	1	1	0	2	1	4	2	4	2	3	2	2	0	3	2	3	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.668G>C	p.Gly223Ala	p.G223A	ENST00000573854	5/14	130	122	8	174	174	0	varscan-mutect	ACSM2A,missense_variant,p.Gly223Ala,ENST00000573854,NM_001308172.1,NM_001010845.2;ACSM2A,missense_variant,p.Gly223Ala,ENST00000396104,;ACSM2A,missense_variant,p.Gly223Ala,ENST00000575690,;ACSM2A,missense_variant,p.Gly223Ala,ENST00000219054,;ACSM2A,missense_variant,p.Gly144Ala,ENST00000417235,NM_001308169.1;ACSM2A,downstream_gene_variant,,ENST00000574251,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000575558,;ACSM2A,upstream_gene_variant,,ENST00000572921,;ACSM2A,3_prime_UTR_variant,,ENST00000574692,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000570698,;ACSM2A,upstream_gene_variant,,ENST00000572843,;	C	ENST00000573854	Transcript	missense_variant	782/2837	668/1734	223/577	G/A	gGg/gCg		1		1	ACSM2A	HGNC	HGNC:32017	protein_coding	YES	CCDS32401.1	ENSP00000459451	Q08AH3		UPI0000251E27	NM_001308172.1,NM_001010845.2	deleterious(0.01)		5/14		hmmpanther:PTHR24095:SF188,hmmpanther:PTHR24095,PROSITE_patterns:PS00455,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		rs1440376614	.												C	3	2	10	20471144	20471144	G	C	1	0	0	0	0	1	0	0	0	225	1232	43	4		4	ACSM2A	16	20471144	Missense_Mutation	SNP	G	C3L-00095_TP	122039	20471144	69867201	638	4019											
TMEM265	0	.	GRCh38	chr16	30741818	30741818	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccatcccccatccgctgCtgctggctccgcctccgctg	2	9	8	22	3	0	0	0	0	0	0	5	0	5	0	8	1	2	5	8	1	0	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.75C>T	p.=	p.C25C	ENST00000615541	2/3	214	192	22	259	259	0	strelka-varscan-mutect	TMEM265,synonymous_variant,p.=,ENST00000615541,NM_001256829.1;SRCAP,downstream_gene_variant,,ENST00000262518,NM_006662.2;SRCAP,downstream_gene_variant,,ENST00000395059,;RP11-2C24.4,non_coding_transcript_exon_variant,,ENST00000483578,;RP11-2C24.9,3_prime_UTR_variant,,ENST00000380361,;	T	ENST00000615541	Transcript	synonymous_variant	405/995	75/327	25/108	C	tgC/tgT		1		1	TMEM265	HGNC	HGNC:51241	protein_coding	YES	CCDS73870.1	ENSP00000477871	A0A087WTH1		UPI0000D4C221	NM_001256829.1			2/3																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	30741818	30741818	C	T	1	0	0	0	0	0	0	0	1	16625	805	28	3		3	TMEM265	16	30741818	Silent	SNP	C	C3L-00095_TP	10270674	30741818	59596527	639	4020											
ITGAM	0	.	GRCh38	chr16	31321615	31321615	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaagagcacacgggatCggctaagagaaggtgaggct	13	5	15	8	2	0	4	0	1	0	3	2	6	1	5	1	4	1	3	1	4	3	1	rs372150584		C3L-00095_TP	C3L-00095_NB	C	C																c.1993C>A	p.=	p.R665R	ENST00000544665	16/30	108	100	8	139	139	0	strelka-varscan-mutect	ITGAM,synonymous_variant,p.=,ENST00000544665,NM_001145808.1;ITGAM,synonymous_variant,p.=,ENST00000287497,NM_000632.3;ITGAM,intron_variant,,ENST00000567031,;ITGAM,upstream_gene_variant,,ENST00000561838,;	A	ENST00000544665	Transcript	synonymous_variant	2064/4718	1993/3462	665/1153	R	Cgg/Agg	rs372150584	1		1	ITGAM	HGNC	HGNC:6149	protein_coding	YES	CCDS54004.1	ENSP00000441691	P11215		UPI000004B26A	NM_001145808.1			16/30		Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Superfamily_domains:SSF69179																	LOW	1	SNV	1			1										PASS		rs372150584	.												A	2	1	10	31321615	31321615	C	A	1	0	0	0	0	0	0	0	1	7794	875	31	1		1	ITGAM	16	31321615	Silent	SNP	C	C3L-00095_TP	579797	31321615	59016730	640	4021											
SLC5A2	0	.	GRCh38	chr16	31488704	31488704	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaacagcagcagcacgctCttcaccatggacatctacac	12	8	6	15	1	4	0	2	0	2	0	4	1	4	1	1	1	5	4	1	1	2	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1212C>G	p.=	p.L404L	ENST00000330498	10/14	147	132	15	203	202	1	strelka-varscan-mutect	SLC5A2,synonymous_variant,p.=,ENST00000330498,NM_003041.3;C16orf58,downstream_gene_variant,,ENST00000327237,NM_022744.3;C16orf58,downstream_gene_variant,,ENST00000570164,;C16orf58,downstream_gene_variant,,ENST00000430477,;C16orf58,downstream_gene_variant,,ENST00000567994,;SLC5A2,downstream_gene_variant,,ENST00000569576,;AC026471.6,upstream_gene_variant,,ENST00000565137,;SLC5A2,upstream_gene_variant,,ENST00000564197,;SLC5A2,upstream_gene_variant,,ENST00000567051,;SLC5A2,non_coding_transcript_exon_variant,,ENST00000568188,;SLC5A2,intron_variant,,ENST00000419665,;SLC5A2,intron_variant,,ENST00000568891,;C16orf58,downstream_gene_variant,,ENST00000568491,;C16orf58,downstream_gene_variant,,ENST00000541442,;SLC5A2,downstream_gene_variant,,ENST00000562006,;C16orf58,downstream_gene_variant,,ENST00000567673,;SLC5A2,downstream_gene_variant,,ENST00000565446,;	G	ENST00000330498	Transcript	synonymous_variant	1231/2271	1212/2019	404/672	L	ctC/ctG		1		1	SLC5A2	HGNC	HGNC:11037	protein_coding	YES	CCDS10714.1	ENSP00000327943	P31639		UPI000004D0A0	NM_003041.3			10/14		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF145,TIGRFAM_domain:TIGR00813																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	10	31488704	31488704	C	G	1	0	0	0	0	0	0	0	1	14948	900	32	4		4	SLC5A2	16	31488704	Silent	SNP	C	C3L-00095_TP	167089	31488704	58849641	641	4022											
ABCC12	0	.	GRCh38	chr16	48104231	48104231	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcacgagaataaacacCaccataaaaaactgctgcag	20	5	6	10	1	1	2	1	0	0	2	1	3	1	2	2	0	4	2	2	0	7	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2811G>T	p.=	p.V937V	ENST00000311303	20/29	506	479	27	555	553	2	strelka-varscan-mutect	ABCC12,synonymous_variant,p.=,ENST00000311303,NM_033226.2;ABCC12,synonymous_variant,p.=,ENST00000534418,;ABCC12,synonymous_variant,p.=,ENST00000497206,;ABCC12,synonymous_variant,p.=,ENST00000532494,;ABCC12,3_prime_UTR_variant,,ENST00000529084,;ABCC12,intron_variant,,ENST00000529504,;	A	ENST00000311303	Transcript	synonymous_variant	3157/5168	2811/4080	937/1359	V	gtG/gtT		1		-1	ABCC12	HGNC	HGNC:14640	protein_coding	YES	CCDS10730.1	ENSP00000311030	Q96J65		UPI0000456987	NM_033226.2			20/29		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF10,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123																	LOW	1	SNV	1			1										PASS		rs904993671	.												A	2	1	10	48104231	48104231	C	A	1	0	0	0	0	0	0	0	1	56	581	21	2		2	ABCC12	16	48104231	Silent	SNP	C	C3L-00095_TP	16615527	48104231	42234114	642	4023											
ADCY7	0	.	GRCh38	chr16	50294705	50294705	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttctcccaaggagctggTggtggtgctgaatgagctct	6	12	14	9	0	2	2	0	2	2	0	3	3	2	3	1	4	3	4	1	4	2	1	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.902T>G	p.Val301Gly	p.V301G	ENST00000394697	7/26	128	118	10	153	153	0	strelka-varscan-mutect	ADCY7,missense_variant,p.Val301Gly,ENST00000394697,;ADCY7,missense_variant,p.Val301Gly,ENST00000254235,NM_001114.4;ADCY7,missense_variant,p.Val301Gly,ENST00000566433,NM_001286057.1;ADCY7,missense_variant,p.Val301Gly,ENST00000537579,;ADCY7,downstream_gene_variant,,ENST00000566761,;ADCY7,downstream_gene_variant,,ENST00000564965,;MIR6771,downstream_gene_variant,,ENST00000619793,;ADCY7,non_coding_transcript_exon_variant,,ENST00000564044,;ADCY7,non_coding_transcript_exon_variant,,ENST00000563677,;ADCY7,missense_variant,p.Val301Gly,ENST00000567277,;	G	ENST00000394697	Transcript	missense_variant	1242/6213	902/3243	301/1080	V/G	gTg/gGg		1		1	ADCY7	HGNC	HGNC:238	protein_coding	YES	CCDS10741.1	ENSP00000378187	P51828		UPI000004C5DB		deleterious(0)		7/26		PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF273,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,Gene3D:3.30.70.1230,SMART_domains:SM00044,Superfamily_domains:SSF55073																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	10	50294705	50294705	T	G	1	0	0	0	0	1	0	0	0	343	1696	59	5		5	ADCY7	16	50294705	Missense_Mutation	SNP	T	C3L-00095_TP	2190474	50294705	40043640	643	4024											
SALL1	0	.	GRCh38	chr16	51137456	51137456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatttctgggaacttgaCgggattgcctcctagaaatg	11	11	11	8	1	1	2	0	1	1	1	2	5	2	4	2	2	3	0	2	2	4	4	rs377652797		C3L-00095_TP	C3L-00095_NB	C	C																c.3631G>T	p.Val1211Phe	p.V1211F	ENST00000251020	3/3	246	231	15	322	322	0	strelka-varscan-mutect	SALL1,missense_variant,p.Val1114Phe,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Val1211Phe,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Val1114Phe,ENST00000570206,;SALL1,3_prime_UTR_variant,,ENST00000566102,;	A	ENST00000251020	Transcript	missense_variant	3665/5146	3631/3975	1211/1324	V/F	Gtc/Ttc	rs377652797	1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	tolerated(0.06)		3/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51																	MODERATE	1	SNV	1			1										PASS		rs377652797	.												A	3	1	10	51137456	51137456	C	A	1	0	0	0	0	1	0	0	0	14069	536	19	1		1	SALL1	16	51137456	Missense_Mutation	SNP	C	C3L-00095_TP	842751	51137456	39200889	644	4025											
SALL1	0	.	GRCh38	chr16	51140846	51140846	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgcaaggcactgtcactcCcaaagaccttcgcgcagaac	11	7	8	15	2	2	2	1	0	1	2	4	2	3	2	2	1	2	3	2	1	3	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1376G>T	p.Gly459Val	p.G459V	ENST00000251020	2/3	210	188	22	250	248	2	strelka-varscan-mutect	SALL1,missense_variant,p.Gly362Val,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Gly459Val,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Gly362Val,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	A	ENST00000251020	Transcript	missense_variant	1410/5146	1376/3975	459/1324	G/V	gGg/gTg		1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	deleterious(0)		2/3		PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	51140846	51140846	C	A	1	0	0	0	0	1	0	0	0	14069	623	22	2		2	SALL1	16	51140846	Missense_Mutation	SNP	C	C3L-00095_TP	3390	51140846	39197499	645	4026											
CHD9	0	.	GRCh38	chr16	53235185	53235185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctttgtttttccacaaagGaccgtcctccttctaatatt	8	18	4	11	1	2	0	0	0	2	0	5	1	5	1	4	1	0	1	4	1	3	8	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2512G>T	p.Asp838Tyr	p.D838Y	ENST00000447540	11/39	62	57	5	53	53	0	strelka-varscan-mutect	CHD9,missense_variant,p.Asp838Tyr,ENST00000566029,NM_025134.4;CHD9,missense_variant,p.Asp838Tyr,ENST00000447540,NM_001308319.1;CHD9,missense_variant,p.Asp838Tyr,ENST00000564845,;CHD9,missense_variant,p.Asp838Tyr,ENST00000398510,;CHD9,missense_variant,p.Asp364Tyr,ENST00000565803,;CHD9,splice_region_variant,,ENST00000615216,;CHD9,intron_variant,,ENST00000622617,;CHD9,splice_region_variant,,ENST00000564255,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;CHD9,non_coding_transcript_exon_variant,,ENST00000569225,;	T	ENST00000447540	Transcript	missense_variant,splice_region_variant	2721/11509	2512/8694	838/2897	D/Y	Gac/Tac		1		1	CHD9	HGNC	HGNC:25701	protein_coding	YES	CCDS76865.1	ENSP00000396345	Q3L8U1		UPI0000E02AC8	NM_001308319.1	deleterious(0)		11/39		PROSITE_profiles:PS50013,hmmpanther:PTHR10799:SF48,hmmpanther:PTHR10799,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	53235185	53235185	G	T	1	0	0	0	0	1	0	0	0	3091	1188	41	2		2	CHD9	16	53235185	Missense_Mutation	SNP	G	C3L-00095_TP	2094339	53235185	37103160	646	4027											
MMP2	0	.	GRCh38	chr16	55484156	55484156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacatcatgatcaactttgGccgctggggtaggcagaaga	12	8	13	8	1	2	4	2	1	0	3	2	4	2	4	1	4	1	3	1	4	3	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.521G>T	p.Gly174Val	p.G174V	ENST00000219070	3/13	278	259	19	356	355	1	strelka-mutect	MMP2,missense_variant,p.Gly174Val,ENST00000219070,NM_004530.5;MMP2,missense_variant,p.Gly98Val,ENST00000570308,;MMP2,missense_variant,p.Gly124Val,ENST00000437642,NM_001127891.2;MMP2,missense_variant,p.Gly98Val,ENST00000543485,NM_001302508.1,NM_001302510.1,NM_001302509.1;MMP2,missense_variant,p.Gly98Val,ENST00000564864,;MMP2,missense_variant,p.Gly98Val,ENST00000568715,;MMP2,upstream_gene_variant,,ENST00000570283,;RP11-212I21.3,upstream_gene_variant,,ENST00000623886,;	T	ENST00000219070	Transcript	missense_variant	1030/3741	521/1983	174/660	G/V	gGc/gTc		1		1	MMP2	HGNC	HGNC:7166	protein_coding	YES	CCDS10752.1	ENSP00000219070	P08253	A0A024R6R4	UPI00000422C4	NM_004530.5	deleterious(0.01)		3/13		Gene3D:3.40.390.10,Pfam_domain:PF00413,Prints_domain:PR00138,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF29,SMART_domains:SM00235,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	55484156	55484156	G	T	1	0	0	0	0	1	0	0	0	9621	1203	42	2		2	MMP2	16	55484156	Missense_Mutation	SNP	G	C3L-00095_TP	2248971	55484156	34854189	647	4028											
SLC6A2	0	.	GRCh38	chr16	55696318	55696318	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcgtcatgctcctggCgctgggccttgacagctcag	4	13	12	12	2	2	1	2	1	0	0	4	1	3	1	2	2	2	4	2	2	0	3	rs201586185		C3L-00095_TP	C3L-00095_NB	C	C																c.1241C>G	p.Ala414Gly	p.A414G	ENST00000219833	8/14	386	352	34	420	420	0	strelka-varscan-mutect	SLC6A2,missense_variant,p.Ala414Gly,ENST00000379906,NM_001043.3;SLC6A2,missense_variant,p.Ala414Gly,ENST00000414754,;SLC6A2,missense_variant,p.Ala309Gly,ENST00000567238,NM_001172502.1;SLC6A2,missense_variant,p.Ala414Gly,ENST00000219833,NM_001172504.1;SLC6A2,missense_variant,p.Ala414Gly,ENST00000568943,NM_001172501.1;SLC6A2,missense_variant,p.Ala414Gly,ENST00000561820,;SLC6A2,missense_variant,p.Ala369Gly,ENST00000566163,;SLC6A2,downstream_gene_variant,,ENST00000568529,;SLC6A2,upstream_gene_variant,,ENST00000574918,;	G	ENST00000219833	Transcript	missense_variant	1292/2858	1241/1887	414/628	A/G	gCg/gGg	rs201586185,COSM4970876,COSM4970877	1		1	SLC6A2	HGNC	HGNC:11048	protein_coding	YES	CCDS54011.1	ENSP00000219833	P23975		UPI00000734FD	NM_001172504.1	deleterious(0)		8/14		Superfamily_domains:0053687,Pfam_domain:PF00209,Prints_domain:PR00176,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF37,Transmembrane_helices:TMhelix											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs201586185	.												G	3	3	10	55696318	55696318	C	G	1	0	0	0	0	1	0	0	0	14966	768	27	4		4	SLC6A2	16	55696318	Missense_Mutation	SNP	C	C3L-00095_TP	212162	55696318	34642027	648	4029											
CETP	0	.	GRCh38	chr16	56969919	56969919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggtctccctgcagcctgtGactctggtagagtgcggacc	5	9	14	13	2	2	2	0	1	2	1	3	3	2	3	3	3	3	2	3	3	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.445G>A	p.Asp149Asn	p.D149N	ENST00000200676	5/16	424	396	28	541	541	0	strelka-varscan-mutect	CETP,missense_variant,p.Asp149Asn,ENST00000200676,NM_000078.2;CETP,missense_variant,p.Asp84Asn,ENST00000566128,;CETP,missense_variant,p.Asp149Asn,ENST00000379780,NM_001286085.1;CETP,non_coding_transcript_exon_variant,,ENST00000569082,;	A	ENST00000200676	Transcript	missense_variant	575/1791	445/1482	149/493	D/N	Gac/Aac		1		1	CETP	HGNC	HGNC:1869	protein_coding	YES	CCDS10772.1	ENSP00000200676	P11597	A0A0S2Z3F6	UPI000013C62C	NM_000078.2	tolerated(0.37)		5/16		hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF12,Gene3D:1ewfA01,Pfam_domain:PF01273,PIRSF_domain:PIRSF037185,SMART_domains:SM00328,Superfamily_domains:SSF55394																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	56969919	56969919	G	A	1	0	0	0	0	1	0	0	0	3009	1304	45	3		3	CETP	16	56969919	Missense_Mutation	SNP	G	C3L-00095_TP	1273601	56969919	33368426	649	4030											
AGRP	0	.	GRCh38	chr16	67482642	67482642	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgttggccagctaggtGcggctgcagggattcatggc	6	9	16	10	2	1	1	1	1	0	0	1	2	1	2	1	5	3	4	1	5	1	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.393C>A	p.=	p.R131R	ENST00000290953	4/4	168	147	21	196	196	0	strelka-varscan-mutect	AGRP,synonymous_variant,p.=,ENST00000290953,NM_001138.1;ATP6V0D1,upstream_gene_variant,,ENST00000290949,NM_004691.4;ATP6V0D1,upstream_gene_variant,,ENST00000602876,;ATP6V0D1,upstream_gene_variant,,ENST00000540149,;ATP6V0D1,upstream_gene_variant,,ENST00000565835,;RP11-297D21.4,intron_variant,,ENST00000635000,;RP11-297D21.4,intron_variant,,ENST00000602596,;RP11-297D21.4,downstream_gene_variant,,ENST00000602592,;RP11-297D21.4,upstream_gene_variant,,ENST00000602476,;ATP6V0D1,upstream_gene_variant,,ENST00000561658,;ATP6V0D1,upstream_gene_variant,,ENST00000568298,;ATP6V0D1,upstream_gene_variant,,ENST00000563064,;ATP6V0D1,upstream_gene_variant,,ENST00000564191,;ATP6V0D1,upstream_gene_variant,,ENST00000561852,;ATP6V0D1,upstream_gene_variant,,ENST00000564788,;	T	ENST00000290953	Transcript	synonymous_variant	693/764	393/399	131/132	R	cgC/cgA		1		-1	AGRP	HGNC	HGNC:330	protein_coding	YES	CCDS10839.1	ENSP00000290953	O00253	C6SUN5	UPI0000046BA7	NM_001138.1			4/4		hmmpanther:PTHR16551:SF4,hmmpanther:PTHR16551																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	67482642	67482642	G	T	1	0	0	0	0	0	0	0	1	477	1306	46	2		2	AGRP	16	67482642	Silent	SNP	G	C3L-00095_TP	10512723	67482642	22855703	650	4031											
DPEP3	0	.	GRCh38	chr16	67975914	67975914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcctggtgtccattctgagGcacgaggtgggagtggcagg	7	8	18	8	1	1	1	0	1	1	0	2	3	2	2	2	6	1	2	2	6	0	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1393C>A	p.Pro465Thr	p.P465T	ENST00000268793	10/10	296	279	17	315	314	1	strelka-varscan-mutect	DPEP3,missense_variant,p.Pro465Thr,ENST00000268793,NM_022357.3,NM_001129758.1;DPEP3,downstream_gene_variant,,ENST00000574342,;	T	ENST00000268793	Transcript	missense_variant	1767/2018	1393/1542	465/513	P/T	Cct/Act		1		-1	DPEP3	HGNC	HGNC:23029	protein_coding	YES	CCDS10856.1	ENSP00000268793	Q9H4B8		UPI000006F093	NM_022357.3,NM_001129758.1	tolerated(0.12)		10/10		PROSITE_profiles:PS51365,hmmpanther:PTHR10443,hmmpanther:PTHR10443:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	67975914	67975914	G	T	1	0	0	0	0	1	0	0	0	4529	1203	42	2		2	DPEP3	16	67975914	Missense_Mutation	SNP	G	C3L-00095_TP	493272	67975914	22362431	651	4032											
CDH1	0	.	GRCh38	chr16	68815698	68815698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtccgaggactttggcgtgGgccaggaaatcacatcctac	9	9	12	11	2	1	0	1	0	0	0	3	3	3	2	3	4	1	0	3	4	2	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1504G>T	p.Gly502Cys	p.G502C	ENST00000261769	10/16	349	323	26	423	422	1	strelka-varscan-mutect	CDH1,missense_variant,p.Gly502Cys,ENST00000261769,NM_004360.3;CDH1,missense_variant,p.Gly523Cys,ENST00000611625,NM_001317185.1;CDH1,missense_variant,p.Gly502Cys,ENST00000621016,;CDH1,missense_variant,p.Gly441Cys,ENST00000422392,;CDH1,missense_variant,p.Gly502Cys,ENST00000612417,;RP11-354M1.2,intron_variant,,ENST00000563916,;CDH1,non_coding_transcript_exon_variant,,ENST00000562836,;CDH1,missense_variant,p.Gly502Cys,ENST00000566612,;CDH1,3_prime_UTR_variant,,ENST00000566510,;CDH1,downstream_gene_variant,,ENST00000561751,;CDH1,downstream_gene_variant,,ENST00000565810,;	T	ENST00000261769	Transcript	missense_variant	1695/4889	1504/2649	502/882	G/C	Ggc/Tgc		1		1	CDH1	HGNC	HGNC:1748	protein_coding	YES	CCDS10869.1	ENSP00000261769	P12830	A0A0U2ZQU7	UPI00000341EF	NM_004360.3	deleterious(0)		10/16		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF267,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	68815698	68815698	G	T	1	0	0	0	0	1	0	0	0	2798	1232	43	2		2	CDH1	16	68815698	Missense_Mutation	SNP	G	C3L-00095_TP	839784	68815698	21522647	652	4033											
HYDIN	0	.	GRCh38	chr16	71069431	71069431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggccaaggccatccccagGgatacgcagtttgtaagtca	11	8	11	11	1	1	0	1	0	0	0	2	1	2	1	4	3	1	3	4	3	3	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1810C>A	p.Pro604Thr	p.P604T	ENST00000393567	14/86	238	221	17	263	263	0	varscan-mutect	HYDIN,missense_variant,p.Pro604Thr,ENST00000393567,NM_001270974.1;HYDIN,missense_variant,p.Pro604Thr,ENST00000321489,NM_017558.4;HYDIN,missense_variant,p.Pro631Thr,ENST00000538248,NM_001198542.1;HYDIN,missense_variant,p.Pro621Thr,ENST00000541601,NM_001198543.1;HYDIN,missense_variant,p.Pro621Thr,ENST00000288168,;HYDIN,missense_variant,p.Pro6Thr,ENST00000542890,;HYDIN,non_coding_transcript_exon_variant,,ENST00000543639,;HYDIN,missense_variant,p.Pro222Thr,ENST00000393552,;HYDIN,missense_variant,p.Pro407Thr,ENST00000545230,;HYDIN,3_prime_UTR_variant,,ENST00000539447,;	T	ENST00000393567	Transcript	missense_variant	1961/15719	1810/15366	604/5121	P/T	Cct/Act		1		-1	HYDIN	HGNC	HGNC:19368	protein_coding	YES	CCDS59269.1	ENSP00000377197	Q4G0P3		UPI0001FEF4F9	NM_001270974.1	deleterious(0.02)		14/86		Pfam_domain:PF15780,hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF16																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	71069431	71069431	G	T	1	0	0	0	0	1	0	0	0	7363	1232	43	2		2	HYDIN	16	71069431	Missense_Mutation	SNP	G	C3L-00095_TP	2253733	71069431	19268914	653	4034											
PKD1L3	0	.	GRCh38	chr16	71930133	71930133	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacaagtaccatcaagatGacactggtgaggatcagaaa	17	6	9	9	0	2	4	2	2	0	2	2	5	2	5	2	2	1	1	2	2	4	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.4977C>A	p.=	p.V1659V	ENST00000620267	29/30	185	175	10	170	170	0	strelka-varscan-mutect	PKD1L3,synonymous_variant,p.=,ENST00000620267,NM_181536.1;IST1,3_prime_UTR_variant,,ENST00000378799,NM_001270975.1;IST1,3_prime_UTR_variant,,ENST00000535424,NM_001270976.1;IST1,3_prime_UTR_variant,,ENST00000606369,NM_001270978.1,NM_001270979.1;IST1,downstream_gene_variant,,ENST00000329908,NM_014761.3;IST1,downstream_gene_variant,,ENST00000378798,NM_001270977.1;IST1,downstream_gene_variant,,ENST00000456820,;IST1,downstream_gene_variant,,ENST00000541571,;IST1,downstream_gene_variant,,ENST00000544564,;IST1,downstream_gene_variant,,ENST00000538850,;IST1,downstream_gene_variant,,ENST00000538565,;IST1,downstream_gene_variant,,ENST00000439924,;IST1,downstream_gene_variant,,ENST00000536027,;IST1,downstream_gene_variant,,ENST00000541180,;	T	ENST00000620267	Transcript	synonymous_variant	4977/5199	4977/5199	1659/1732	V	gtC/gtA		1		-1	PKD1L3	HGNC	HGNC:21716	protein_coding	YES	CCDS73912.1	ENSP00000480090	Q7Z443		UPI00001A36E5	NM_181536.1			29/30		Transmembrane_helices:TMhelix,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF136,Pfam_domain:PF08016																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	71930133	71930133	G	T	1	0	0	0	0	0	0	0	1	12061	1277	45	2		2	PKD1L3	16	71930133	Silent	SNP	G	C3L-00095_TP	860702	71930133	18408212	654	4035											
CNTNAP4	0	.	GRCh38	chr16	76522257	76522257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaacagtcagctcttcgtgGgtaagttctctttttaagca	9	15	8	9	1	4	0	2	0	2	0	6	0	4	0	0	1	3	4	0	1	3	6	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2755G>T	p.Gly919Cys	p.G919C	ENST00000611870	17/24	160	149	11	178	177	1	strelka-varscan-mutect	CNTNAP4,missense_variant,p.Gly919Cys,ENST00000307431,;CNTNAP4,missense_variant,p.Gly919Cys,ENST00000611870,NM_033401.3;CNTNAP4,missense_variant,p.Gly871Cys,ENST00000377504,;CNTNAP4,missense_variant,p.Gly922Cys,ENST00000476707,;CNTNAP4,missense_variant,p.Gly871Cys,ENST00000622250,;CNTNAP4,missense_variant,p.Gly846Cys,ENST00000478060,NM_138994.3;	T	ENST00000611870	Transcript	missense_variant,splice_region_variant	3140/4867	2755/3927	919/1308	G/C	Ggt/Tgt		1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3	deleterious(0)		17/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	76522257	76522257	G	T	1	0	0	0	0	1	0	0	0	3431	1246	43	2		2	CNTNAP4	16	76522257	Missense_Mutation	SNP	G	C3L-00095_TP	4592124	76522257	13816088	655	4036											
CNTNAP4	0	.	GRCh38	chr16	76535766	76535766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcactttctctgcatacacaGggccattctgctcaaatggt	9	12	8	12	0	3	0	1	0	2	0	4	0	3	0	1	2	3	3	1	2	2	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2977G>T	p.Gly993Trp	p.G993W	ENST00000611870	18/24	148	139	9	192	189	3	strelka-varscan-mutect	CNTNAP4,missense_variant,p.Gly993Trp,ENST00000307431,;CNTNAP4,missense_variant,p.Gly993Trp,ENST00000611870,NM_033401.3;CNTNAP4,missense_variant,p.Gly945Trp,ENST00000377504,;CNTNAP4,missense_variant,p.Gly996Trp,ENST00000476707,;CNTNAP4,missense_variant,p.Gly945Trp,ENST00000622250,;CNTNAP4,missense_variant,p.Gly920Trp,ENST00000478060,NM_138994.3;	T	ENST00000611870	Transcript	missense_variant	3362/4867	2977/3927	993/1308	G/W	Ggg/Tgg		1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3	deleterious(0)		18/24		Gene3D:2.60.120.200,PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659,SMART_domains:SM00181,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	76535766	76535766	G	T	1	0	0	0	0	1	0	0	0	3431	1000	35	2		2	CNTNAP4	16	76535766	Missense_Mutation	SNP	G	C3L-00095_TP	13509	76535766	13802579	656	4037											
CNTNAP4	0	.	GRCh38	chr16	76538195	76538195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttaagtaaaaactccagCtcccacgctgcttcatttca	11	13	4	13	1	2	0	2	0	0	0	4	0	4	0	2	0	3	4	2	0	4	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.3075C>A	p.Ser1025Arg	p.S1025R	ENST00000611870	19/24	218	199	19	256	255	1	strelka-varscan-mutect	CNTNAP4,missense_variant,p.Ser1025Arg,ENST00000307431,;CNTNAP4,missense_variant,p.Ser1025Arg,ENST00000611870,NM_033401.3;CNTNAP4,missense_variant,p.Ser977Arg,ENST00000377504,;CNTNAP4,missense_variant,p.Ser1028Arg,ENST00000476707,;CNTNAP4,missense_variant,p.Ser977Arg,ENST00000622250,;CNTNAP4,missense_variant,p.Ser952Arg,ENST00000478060,NM_138994.3;	A	ENST00000611870	Transcript	missense_variant	3460/4867	3075/3927	1025/1308	S/R	agC/agA		1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3	deleterious(0.04)		19/24		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs1306716252	.												A	3	1	10	76538195	76538195	C	A	1	0	0	0	0	1	0	0	0	3431	796	28	2		2	CNTNAP4	16	76538195	Missense_Mutation	SNP	C	C3L-00095_TP	2429	76538195	13800150	657	4038											
CDYL2	0	.	GRCh38	chr16	80684673	80684673	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatccttctcagagccggCgtccccattttccatcccgt	5	12	6	18	3	2	1	2	0	1	1	7	1	6	1	6	1	1	0	6	1	0	3	rs144219171		C3L-00095_TP	C3L-00095_NB	C	C																c.481G>T	p.Ala161Ser	p.A161S	ENST00000570137	2/7	264	250	14	331	330	1	strelka-varscan-mutect	CDYL2,missense_variant,p.Ala161Ser,ENST00000570137,NM_152342.2;CDYL2,missense_variant,p.Ala161Ser,ENST00000562812,;CDYL2,missense_variant,p.Ala161Ser,ENST00000563890,;CDYL2,missense_variant,p.Ala161Ser,ENST00000566173,;CDYL2,non_coding_transcript_exon_variant,,ENST00000562753,;	A	ENST00000570137	Transcript	missense_variant	637/8159	481/1521	161/506	A/S	Gcc/Tcc	rs144219171	1		-1	CDYL2	HGNC	HGNC:23030	protein_coding	YES	CCDS32493.1	ENSP00000476295	Q8N8U2		UPI00001B2954	NM_152342.2	tolerated(0.5)		2/7																			MODERATE	1	SNV	1			1										PASS		rs144219171	.												A	3	1	10	80684673	80684673	C	A	1	0	0	0	0	1	0	0	0	2892	768	27	1		1	CDYL2	16	80684673	Missense_Mutation	SNP	C	C3L-00095_TP	4146478	80684673	9653672	658	4039											
FOXL1	0	.	GRCh38	chr16	86579585	86579585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctagggggtgccaagcctGggcccggcggccgtctgggt	3	7	18	13	3	1	0	0	0	1	0	2	0	2	0	5	6	2	0	5	6	2	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.862G>C	p.Gly288Arg	p.G288R	ENST00000320241	1/1	205	187	18	260	260	0	strelka-varscan-mutect	FOXL1,missense_variant,p.Gly288Arg,ENST00000320241,NM_005250.2;FOXL1,downstream_gene_variant,,ENST00000593625,;	C	ENST00000320241	Transcript	missense_variant	1080/3655	862/1038	288/345	G/R	Ggg/Cgg		1		1	FOXL1	HGNC	HGNC:3817	protein_coding	YES	CCDS10959.1	ENSP00000326272	Q12952		UPI000012ADE2	NM_005250.2	tolerated(0.19)		1/1		Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	10	86579585	86579585	G	C	1	0	0	0	0	1	0	0	0	5879	1348	47	4		4	FOXL1	16	86579585	Missense_Mutation	SNP	G	C3L-00095_TP	5894912	86579585	3758760	659	4040											
ZNF469	0	.	GRCh38	chr16	88428017	88428017	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcttggcttccacaggTgcttccaggagccaccctcc	8	8	10	15	0	0	1	0	0	0	1	3	2	3	2	5	3	3	3	5	3	1	3	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.547T>A	p.Cys183Ser	p.C183S	ENST00000437464	1/2	568	528	40	774	773	1	strelka-varscan-mutect	ZNF469,missense_variant,p.Cys183Ser,ENST00000565624,;ZNF469,missense_variant,p.Cys183Ser,ENST00000437464,NM_001127464.2;	A	ENST00000437464	Transcript	missense_variant	547/13203	547/11778	183/3925	C/S	Tgc/Agc		1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2	deleterious(0.03)		1/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	88428017	88428017	T	A	1	0	0	0	0	1	0	0	0	18500	1696	59	4		4	ZNF469	16	88428017	Missense_Mutation	SNP	T	C3L-00095_TP	1848432	88428017	1910328	660	4041											
RP11-566K11.2	0	.	GRCh38	chr16	89919723	89919723	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcactgcgctaccacagcatCgtgaccctgccgcgggcgcg	6	5	13	17	6	0	1	0	1	0	0	1	1	0	1	3	1	4	3	3	1	1	1	rs374878766		C3L-00095_TP	C3L-00095_NB	C	C																c.465C>T	p.=	p.I155I	ENST00000555147	1/1	159	140	19	182	182	0	strelka-varscan-mutect	MC1R,synonymous_variant,p.=,ENST00000555427,;MC1R,synonymous_variant,p.=,ENST00000555147,NM_002386.3;RP11-566K11.2,synonymous_variant,p.=,ENST00000556922,;TUBB3,upstream_gene_variant,,ENST00000554444,NM_001197181.1;TUBB3,upstream_gene_variant,,ENST00000315491,NM_006086.3;TUBB3,upstream_gene_variant,,ENST00000554336,;TUBB3,upstream_gene_variant,,ENST00000555810,;TUBB3,upstream_gene_variant,,ENST00000553967,;TUBB3,upstream_gene_variant,,ENST00000555576,;TUBB3,upstream_gene_variant,,ENST00000625617,;TUBB3,upstream_gene_variant,,ENST00000556565,;RP11-566K11.4,downstream_gene_variant,,ENST00000554623,;TUBB3,upstream_gene_variant,,ENST00000554116,;MC1R,downstream_gene_variant,,ENST00000539976,;TUBB3,upstream_gene_variant,,ENST00000555609,;TUBB3,upstream_gene_variant,,ENST00000556536,;TUBB3,upstream_gene_variant,,ENST00000557262,;TUBB3,upstream_gene_variant,,ENST00000557490,;TUBB3,upstream_gene_variant,,ENST00000554927,;RP11-566K11.7,downstream_gene_variant,,ENST00000570217,;TUBB3,upstream_gene_variant,,ENST00000553656,;	T	ENST00000555147	Transcript	synonymous_variant	1845/3099	465/954	155/317	I	atC/atT	rs374878766	1		1	MC1R	HGNC	HGNC:6929	protein_coding	YES	CCDS56011.1	ENSP00000451605	Q01726	Q1JUL4	UPI00000622C3	NM_002386.3			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF2,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00534																	LOW		SNV				1										PASS		rs374878766	.												T	2	4	10	89919723	89919723	C	T	1	0	0	0	0	0	0	0	1	13753	874	31	1		1	RP11-566K11.2	16	89919723	Silent	SNP	C	C3L-00095_TP	1491706	89919723	418622	661	4042											
TLCD2	0	.	GRCh38	chr17	1709558	1709558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctggttccacagcaggtCagctccgtctgccaggaagt	7	9	13	12	1	3	0	1	0	2	0	5	1	5	1	3	4	3	3	3	4	1	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.283G>T	p.Asp95Tyr	p.D95Y	ENST00000330676	3/4	206	188	18	236	235	1	strelka-varscan-mutect	TLCD2,missense_variant,p.Asp95Tyr,ENST00000330676,NM_001164407.1;MIR22HG,downstream_gene_variant,,ENST00000574306,;MIR22HG,downstream_gene_variant,,ENST00000334146,;MIR22HG,downstream_gene_variant,,ENST00000577164,;MIR22HG,downstream_gene_variant,,ENST00000573127,;MIR22HG,downstream_gene_variant,,ENST00000571595,;MIR22HG,downstream_gene_variant,,ENST00000576749,;MIR22HG,downstream_gene_variant,,ENST00000576489,;MIR22HG,downstream_gene_variant,,ENST00000575626,;MIR22HG,downstream_gene_variant,,ENST00000609990,;MIR22HG,downstream_gene_variant,,ENST00000609398,;MIR22HG,downstream_gene_variant,,ENST00000608198,;MIR22HG,downstream_gene_variant,,ENST00000608913,;MIR22HG,downstream_gene_variant,,ENST00000574016,;MIR22HG,downstream_gene_variant,,ENST00000573075,;MIR22HG,downstream_gene_variant,,ENST00000609442,;MIR22HG,downstream_gene_variant,,ENST00000570416,;MIR22HG,downstream_gene_variant,,ENST00000571091,;MIR22HG,downstream_gene_variant,,ENST00000608245,;MIR22HG,downstream_gene_variant,,ENST00000610106,;MIR22HG,downstream_gene_variant,,ENST00000362190,;	A	ENST00000330676	Transcript	missense_variant	479/5971	283/795	95/264	D/Y	Gac/Tac		1		-1	TLCD2	HGNC	HGNC:33522	protein_coding	YES	CCDS45567.1	ENSP00000331965	A6NGC4		UPI00001D79C7	NM_001164407.1	deleterious(0.04)		3/4		Pfam_domain:PF03798,PROSITE_profiles:PS50922,hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF2,SMART_domains:SM00724,Transmembrane_helices:TMhelix																	MODERATE		SNV	2			1										PASS		rs1305222873	.												A	3	1	10	1709558	1709558	C	A	1	0	0	0	0	1	0	0	0	16381	826	29	2		2	TLCD2	17	1709558	Missense_Mutation	SNP	C	C3L-00095_TP		1709558	81547883	662	4043											
SHPK	0	.	GRCh38	chr17	3610875	3610875	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtccggcaggtgcctctcCcccagcactgtcggggtgat	4	9	14	14	2	1	1	0	1	1	0	4	1	2	1	4	5	2	2	4	5	0	0	rs148679980		C3L-00095_TP	C3L-00095_NB	C	C																c.1122G>T	p.=	p.G374G	ENST00000225519	7/7	180	171	9	241	241	0	strelka-varscan-mutect	SHPK,synonymous_variant,p.=,ENST00000225519,NM_013276.2;TRPV1,upstream_gene_variant,,ENST00000572705,NM_080704.3;RP11-235E17.2,synonymous_variant,p.=,ENST00000572919,;	A	ENST00000225519	Transcript	synonymous_variant	1225/3838	1122/1437	374/478	G	ggG/ggT	rs148679980	1		-1	SHPK	HGNC	HGNC:1492	protein_coding	YES	CCDS11030.1	ENSP00000225519	Q9UHJ6		UPI0000070BB8	NM_013276.2			7/7		hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF67,Superfamily_domains:SSF53067																	LOW	1	SNV	1			1										PASS		rs148679980	.												A	2	1	10	3610875	3610875	C	A	1	0	0	0	0	0	0	0	1	14553	610	22	2		2	SHPK	17	3610875	Silent	SNP	C	C3L-00095_TP	1901317	3610875	79646566	663	4044											
ALOX15	0	.	GRCh38	chr17	4638931	4638931	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggtcatatagtttggccCcagccatattcagaattaac	12	11	9	9	0	2	1	2	0	0	1	2	2	2	2	3	3	2	1	3	3	5	6	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.461G>T	p.Gly154Val	p.G154V	ENST00000570836	5/15	200	184	16	301	300	1	strelka-varscan-mutect	ALOX15,missense_variant,p.Gly154Val,ENST00000570836,;ALOX15,missense_variant,p.Gly154Val,ENST00000293761,NM_001140.3;ALOX15,missense_variant,p.Gly115Val,ENST00000574640,;ALOX15,missense_variant,p.Gly3Val,ENST00000572265,;ALOX15,downstream_gene_variant,,ENST00000576394,;ALOX15,non_coding_transcript_exon_variant,,ENST00000573740,;ALOX15,non_coding_transcript_exon_variant,,ENST00000576572,;	A	ENST00000570836	Transcript	missense_variant	558/2784	461/1989	154/662	G/V	gGg/gTg		1		-1	ALOX15	HGNC	HGNC:433	protein_coding	YES	CCDS11049.1	ENSP00000458832	P16050		UPI000013E118		tolerated(0.06)		5/15		PROSITE_profiles:PS51393,hmmpanther:PTHR11771,hmmpanther:PTHR11771:SF33,Superfamily_domains:SSF48484																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	10	4638931	4638931	C	A	1	0	0	0	0	1	0	0	0	638	623	22	2		2	ALOX15	17	4638931	Missense_Mutation	SNP	C	C3L-00095_TP	1028056	4638931	78618510	664	4045											
TP53	0	.	GRCh38	chr17	7675145	7675145	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggccatggcgcggacgCgggtgccgggcgggggtgtg	4	5	23	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	0	2	7	0	0	rs371524413		C3L-00095_TP	C3L-00095_NB	C	C																c.467G>C	p.Arg156Pro	p.R156P	ENST00000269305	5/11	239	220	19	348	348	0	strelka-varscan-mutect	TP53,missense_variant,p.Arg156Pro,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Arg156Pro,ENST00000420246,;TP53,missense_variant,p.Arg117Pro,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Arg117Pro,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg156Pro,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Arg117Pro,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Arg156Pro,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Arg117Pro,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Arg156Pro,ENST00000445888,;TP53,missense_variant,p.Arg117Pro,ENST00000619485,;TP53,missense_variant,p.Arg24Pro,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Arg24Pro,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Arg24Pro,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Arg156Pro,ENST00000359597,;TP53,missense_variant,p.Arg145Pro,ENST00000615910,;TP53,missense_variant,p.Arg156Pro,ENST00000413465,;TP53,missense_variant,p.Arg24Pro,ENST00000509690,;TP53,missense_variant,p.Arg156Pro,ENST00000508793,;TP53,missense_variant,p.Arg63Pro,ENST00000514944,;TP53,5_prime_UTR_variant,,ENST00000618944,NM_001276698.1;TP53,5_prime_UTR_variant,,ENST00000610623,NM_001276699.1;TP53,5_prime_UTR_variant,,ENST00000619186,NM_001276697.1;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Arg117Pro,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	G	ENST00000269305	Transcript	missense_variant	657/2579	467/1182	156/393	R/P	cGc/cCc	rs371524413,CM984589,TP53_g.12455G>A,TP53_g.12455del,TP53_g.12455G>C,TP53_g.12455G>T,COSM10760,COSM1522489,COSM1522490,COSM1522491,COSM1522492,COSM2744905,COSM3712457,COSM3970367,COSM3970368,COSM3970369,COSM3970370,COSM3970371,COSM3970372,COSM43548,COSM43739,COSM45530	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	tolerated(0.22)		5/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417											0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs371524413	.												G	3	3	10	7675145	7675145	C	G	1	0	0	0	0	1	0	0	0	16859	768	27	4		4	TP53	17	7675145	Missense_Mutation	SNP	C	C3L-00095_TP	3036214	7675145	75582296	665	4046											
PIK3R6	0	.	GRCh38	chr17	8836893	8836893	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaaaaggcatagattcTctggtagagctcttctgtga	10	13	11	7	0	3	3	0	1	3	2	4	3	3	3	0	2	2	4	0	2	4	4	rs756493237		C3L-00095_TP	C3L-00095_NB	T	T																c.289A>T	p.Arg97Ter	p.R97*	ENST00000619866	6/20	185	172	13	239	239	0	strelka-varscan-mutect	PIK3R6,stop_gained,p.Arg97Ter,ENST00000619866,NM_001010855.3,NM_001290211.1;PIK3R6,stop_gained,p.Arg97Ter,ENST00000614407,;PIK3R6,3_prime_UTR_variant,,ENST00000611951,;PIK3R6,3_prime_UTR_variant,,ENST00000613555,;	A	ENST00000619866	Transcript	stop_gained	529/3041	289/2265	97/754	R/*	Aga/Tga	rs756493237	1		-1	PIK3R6	HGNC	HGNC:27101	protein_coding	YES	CCDS73985.1	ENSP00000480157	Q5UE93		UPI0000043463	NM_001010855.3,NM_001290211.1			6/20		hmmpanther:PTHR15593:SF1,hmmpanther:PTHR15593,Pfam_domain:PF10486																	HIGH	1	SNV	5			1										PASS		rs756493237	.												A	4	1	10	8836893	8836893	T	A	1	0	0	0	0	0	1	0	0	12018	1559	54	4		4	PIK3R6	17	8836893	Nonsense_Mutation	SNP	T	C3L-00095_TP	1161748	8836893	74420548	666	4047											
MYH8	0	.	GRCh38	chr17	10398592	10398592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactgttcccgcagcaggtCgcagtcatggcgggaggact	8	8	14	11	3	1	0	1	0	0	0	3	2	2	2	1	4	2	4	1	4	1	2	rs775346508		C3L-00095_TP	C3L-00095_NB	C	C																c.4030G>T	p.Asp1344Tyr	p.D1344Y	ENST00000403437	30/40	418	378	40	629	627	2	strelka-varscan-mutect	MYH8,missense_variant,p.Asp1344Tyr,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000403437	Transcript	missense_variant	4125/6041	4030/5814	1344/1937	D/Y	Gac/Tac	rs775346508	1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2	deleterious(0)		30/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,Superfamily_domains:SSF90257																	MODERATE		SNV	5			1										PASS		rs775346508	.												A	3	1	10	10398592	10398592	C	A	1	0	0	0	0	1	0	0	0	10041	884	31	1		1	MYH8	17	10398592	Missense_Mutation	SNP	C	C3L-00095_TP	1561699	10398592	72858849	667	4048											
MYH8	0	.	GRCh38	chr17	10418802	10418802	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagaggcctgagtaggtCtgggaagatcagaacattta	14	8	13	6	0	2	5	1	1	1	4	2	6	2	6	1	3	1	1	1	3	5	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.355-1G>T		p.X119_splice	ENST00000403437		249	226	23	373	373	0	varscan-mutect	MYH8,splice_acceptor_variant,,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000403437	Transcript	splice_acceptor_variant	-/6041	355/5814	119/1937				1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2				4/39																		HIGH		SNV	5			1										PASS		.	.												A	5	1	10	10418802	10418802	C	A	1	0	0	0	0	0	0	1	0	10041	927	32	2		2	MYH8	17	10418802	Splice_Site	SNP	C	C3L-00095_TP	20210	10418802	72838639	668	4049											
MYH8	0	.	GRCh38	chr17	10420130	10420130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatgttttagcatcaaacGgcttgttttgggcctcaatc	9	14	9	9	1	2	1	2	0	0	1	3	1	2	1	1	2	2	4	1	2	3	5	rs753981095		C3L-00095_TP	C3L-00095_NB	G	G																c.98C>A	p.Pro33Gln	p.P33Q	ENST00000403437	3/40	487	444	43	602	599	3	strelka-varscan-mutect	MYH8,missense_variant,p.Pro33Gln,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000403437	Transcript	missense_variant	193/6041	98/5814	33/1937	P/Q	cCg/cAg	rs753981095,COSM4514864	1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2	deleterious(0)		3/40													0,1						MODERATE		SNV	5		0,1	1										PASS		rs753981095	.												T	3	4	10	10420130	10420130	G	T	1	0	0	0	0	1	0	0	0	10041	1116	39	1		1	MYH8	17	10420130	Missense_Mutation	SNP	G	C3L-00095_TP	1328	10420130	72837311	669	4050											
RHOT1	0	.	GRCh38	chr17	32209374	32209374	+	Frame_Shift_Del	DEL	C	C	-																															gatcattacagagacagactCtcccgagacatgggccacac																										C3L-00095_TP	C3L-00095_NB	C	C																c.1764delC	p.Ser589ProfsTer10	p.S589Pfs*10	ENST00000358365	19/21	132	121	11	111	111	0	sindel-varindel-pindel	RHOT1,frameshift_variant,p.Ser589ProfsTer10,ENST00000358365,NM_001033568.2;RHOT1,frameshift_variant,p.Ser589ProfsTer10,ENST00000394692,NM_001288758.1,NM_001288754.1;RHOT1,3_prime_UTR_variant,,ENST00000581094,;RHOT1,intron_variant,,ENST00000333942,NM_018307.4;RHOT1,intron_variant,,ENST00000354266,NM_001288755.1,NM_001033567.2;RHOT1,intron_variant,,ENST00000545287,NM_001033566.2;RHOT1,intron_variant,,ENST00000580392,;RHOT1,intron_variant,,ENST00000581148,;RHOT1,intron_variant,,ENST00000582602,;RHOT1,intron_variant,,ENST00000584852,;RHOT1,upstream_gene_variant,,ENST00000582586,;RHOT1,3_prime_UTR_variant,,ENST00000583994,;RHOT1,intron_variant,,ENST00000581031,;RHOT1,intron_variant,,ENST00000578205,;RHOT1,intron_variant,,ENST00000584692,;RHOT1,downstream_gene_variant,,ENST00000581567,;	-	ENST00000358365	Transcript	frameshift_variant	1991/3297	1764/2076	588/691	L/X	ctC/ct	COSM4472161	1		1	RHOT1	HGNC	HGNC:21168	protein_coding	YES	CCDS32610.1	ENSP00000351132	Q8IXI2		UPI0000074394	NM_001033568.2			19/21		PIRSF_domain:PIRSF037488											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	10	32209374	32209374	C	-	1	0	1	0	1	0	0	0	0	13516	900	32	0		0	RHOT1	17	32209374	Frame_Shift_Del	DEL	C	C3L-00095_TP	21789244	32209374	51048067	670	4051											
LYZL6	0	.	GRCh38	chr17	35939296	35939296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtcacagcgactgatgaGgctggcctgatttagggcaa	11	8	13	9	1	1	3	1	3	0	0	1	4	1	3	1	3	1	2	1	3	3	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.61C>A	p.Leu21Ile	p.L21I	ENST00000615905	2/5	173	157	16	217	217	0	strelka-varscan-mutect	LYZL6,missense_variant,p.Leu21Ile,ENST00000615905,NM_020426.2;LYZL6,missense_variant,p.Leu21Ile,ENST00000618542,NM_001199951.2;LYZL6,upstream_gene_variant,,ENST00000617692,;	T	ENST00000615905	Transcript	missense_variant	396/1047	61/447	21/148	L/I	Ctc/Atc		1		-1	LYZL6	HGNC	HGNC:29614	protein_coding	YES	CCDS11302.1	ENSP00000483897	O75951		UPI000006E183	NM_020426.2	tolerated(1)		2/5		PROSITE_profiles:PS51348,hmmpanther:PTHR11407,hmmpanther:PTHR11407:SF9,SMART_domains:SM00263,Prints_domain:PR00137																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	35939296	35939296	G	T	1	0	0	0	0	1	0	0	0	9047	1000	35	2		2	LYZL6	17	35939296	Missense_Mutation	SNP	G	C3L-00095_TP	3729922	35939296	47318145	671	4052											
PLXDC1	0	.	GRCh38	chr17	39109352	39109352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccggctgtggggctcgctggGgccatagagacgggacacat	7	6	17	11	3	0	1	0	0	0	1	1	3	0	2	2	6	0	3	2	6	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.295C>G	p.Pro99Ala	p.P99A	ENST00000315392	3/14	238	224	14	278	278	0	strelka-varscan-mutect	PLXDC1,missense_variant,p.Pro99Ala,ENST00000315392,NM_020405.4;PLXDC1,missense_variant,p.Pro59Ala,ENST00000444911,;PLXDC1,missense_variant,p.Pro26Ala,ENST00000441877,;PLXDC1,missense_variant,p.Pro26Ala,ENST00000415163,;PLXDC1,missense_variant,p.Pro26Ala,ENST00000579190,;PLXDC1,upstream_gene_variant,,ENST00000579279,;PLXDC1,non_coding_transcript_exon_variant,,ENST00000493200,;PLXDC1,non_coding_transcript_exon_variant,,ENST00000580667,;PLXDC1,non_coding_transcript_exon_variant,,ENST00000577941,;PLXDC1,non_coding_transcript_exon_variant,,ENST00000577838,;CTD-2206N4.4,intron_variant,,ENST00000578423,;CTD-2206N4.4,upstream_gene_variant,,ENST00000577328,;PLXDC1,upstream_gene_variant,,ENST00000444435,;PLXDC1,missense_variant,p.Pro99Ala,ENST00000578390,;PLXDC1,missense_variant,p.Pro59Arg,ENST00000578808,;PLXDC1,non_coding_transcript_exon_variant,,ENST00000461225,;PLXDC1,non_coding_transcript_exon_variant,,ENST00000394318,;PLXDC1,non_coding_transcript_exon_variant,,ENST00000578517,;	C	ENST00000315392	Transcript	missense_variant	507/6252	295/1503	99/500	P/A	Ccc/Gcc		1		-1	PLXDC1	HGNC	HGNC:20945	protein_coding	YES	CCDS11333.1	ENSP00000323927	Q8IUK5		UPI0000049814	NM_020405.4	deleterious(0.02)		3/14		hmmpanther:PTHR13055:SF10,hmmpanther:PTHR13055																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	39109352	39109352	G	C	1	0	0	0	0	1	0	0	0	12223	1232	43	4		4	PLXDC1	17	39109352	Missense_Mutation	SNP	G	C3L-00095_TP	3170056	39109352	44148089	672	4053											
ZNF385C	0	.	GRCh38	chr17	42037813	42037813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtgcttgaagtccagcGggggctgcagaggccgggtg	7	6	19	9	2	0	2	0	1	0	1	1	2	1	2	2	4	3	4	2	4	2	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.86C>A	p.Pro29Gln	p.P29Q	ENST00000618554	2/8	43	39	4	66	66	0	strelka-varscan-mutect	ZNF385C,missense_variant,p.Pro29Gln,ENST00000618554,NM_001242704.1;ZNF385C,missense_variant,p.Pro108Gln,ENST00000436535,;ZNF385C,downstream_gene_variant,,ENST00000587304,;	T	ENST00000618554	Transcript	missense_variant	86/2596	86/1275	29/424	P/Q	cCg/cAg		1		-1	ZNF385C	HGNC	HGNC:33722	protein_coding	YES	CCDS74065.1	ENSP00000480744		A0A087WX54	UPI0001E6F8A9	NM_001242704.1	tolerated(0.47)		2/8		hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF6,Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		rs1387006920	.												T	3	4	10	42037813	42037813	G	T	1	0	0	0	0	1	0	0	0	18450	1116	39	1		1	ZNF385C	17	42037813	Missense_Mutation	SNP	G	C3L-00095_TP	2928461	42037813	41219628	673	4054											
EZH1	0	.	GRCh38	chr17	42719109	42719109	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacagctttccctacctctCcttcatgtcatctgggacac	7	12	7	15	0	4	0	2	0	2	0	6	2	5	2	3	2	2	1	3	2	1	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.763G>T	p.Glu255Ter	p.E255*	ENST00000428826	8/21	148	128	20	169	168	1	strelka-varscan-mutect	EZH1,stop_gained,p.Glu255Ter,ENST00000428826,NM_001321079.1,NM_001991.3;EZH1,stop_gained,p.Glu246Ter,ENST00000415827,NM_001321081.1;EZH1,stop_gained,p.Glu255Ter,ENST00000592743,;EZH1,stop_gained,p.Glu215Ter,ENST00000585893,;EZH1,stop_gained,p.Glu185Ter,ENST00000590078,;EZH1,stop_gained,p.Glu206Ter,ENST00000586382,;EZH1,downstream_gene_variant,,ENST00000593214,;EZH1,downstream_gene_variant,,ENST00000586089,;EZH1,stop_gained,p.Glu45Ter,ENST00000588239,;EZH1,3_prime_UTR_variant,,ENST00000588897,;EZH1,3_prime_UTR_variant,,ENST00000586867,;EZH1,non_coding_transcript_exon_variant,,ENST00000586103,;EZH1,non_coding_transcript_exon_variant,,ENST00000591330,;EZH1,non_coding_transcript_exon_variant,,ENST00000585912,;EZH1,non_coding_transcript_exon_variant,,ENST00000593148,;EZH1,intron_variant,,ENST00000585550,;EZH1,intron_variant,,ENST00000587179,;EZH1,intron_variant,,ENST00000586935,;CTD-3193K9.1,downstream_gene_variant,,ENST00000479088,;	A	ENST00000428826	Transcript	stop_gained	885/4623	763/2244	255/747	E/*	Gag/Tag		1		-1	EZH1	HGNC	HGNC:3526	protein_coding	YES	CCDS32659.1	ENSP00000404658	Q92800		UPI000012A3BA	NM_001321079.1,NM_001991.3			8/21		hmmpanther:PTHR22884:SF333,hmmpanther:PTHR22884,SMART_domains:SM00717																	HIGH	1	SNV	1			1										PASS		rs1366545814	.												A	4	1	10	42719109	42719109	C	A	1	0	0	0	0	0	1	0	0	5201	869	30	2		2	EZH1	17	42719109	Nonsense_Mutation	SNP	C	C3L-00095_TP	681296	42719109	40538332	674	4055											
WNK4	0	.	GRCh38	chr17	42787865	42787865	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccctgggggggtgccatCcagcctggctgagtcccatc	4	7	14	16	0	0	1	0	1	0	0	3	1	2	1	6	4	2	1	6	4	0	0	rs377697081		C3L-00095_TP	C3L-00095_NB	C	C																c.1829C>A	p.Ser610Tyr	p.S610Y	ENST00000246914	8/19	255	238	17	333	332	1	strelka-varscan-mutect	WNK4,missense_variant,p.Ser610Tyr,ENST00000246914,NM_032387.4;WNK4,intron_variant,,ENST00000587705,;WNK4,3_prime_UTR_variant,,ENST00000591448,NM_001321299.1;WNK4,intron_variant,,ENST00000592072,;WNK4,downstream_gene_variant,,ENST00000592669,;	A	ENST00000246914	Transcript	missense_variant	1850/4001	1829/3732	610/1243	S/Y	tCc/tAc	rs377697081	1		1	WNK4	HGNC	HGNC:14544	protein_coding	YES	CCDS11439.1	ENSP00000246914	Q96J92		UPI000006FC0F	NM_032387.4	tolerated(0.05)		8/19		hmmpanther:PTHR13902:SF52,hmmpanther:PTHR13902																	MODERATE	1	SNV	1			1										PASS		rs377697081	.												A	3	1	10	42787865	42787865	C	A	1	0	0	0	0	1	0	0	0	17936	855	30	2		2	WNK4	17	42787865	Missense_Mutation	SNP	C	C3L-00095_TP	68756	42787865	40469576	675	4056											
SLC4A1	0	.	GRCh38	chr17	44259905	44259905	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggactgcaggcttcacaccCcccagggcctccagctctcc	7	6	9	19	0	2	0	1	0	1	0	4	1	3	1	6	3	2	3	6	3	0	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.513G>T	p.=	p.G171G	ENST00000262418	7/20	536	485	51	644	644	0	strelka-varscan-mutect	SLC4A1,synonymous_variant,p.=,ENST00000262418,NM_000342.3;SLC4A1,synonymous_variant,p.=,ENST00000399246,;SLC4A1,downstream_gene_variant,,ENST00000471005,;SLC4A1,non_coding_transcript_exon_variant,,ENST00000497360,;SLC4A1,downstream_gene_variant,,ENST00000498270,;	A	ENST00000262418	Transcript	synonymous_variant	669/4965	513/2736	171/911	G	ggG/ggT		1		-1	SLC4A1	HGNC	HGNC:11027	protein_coding	YES	CCDS11481.1	ENSP00000262418	P02730		UPI00000375B8	NM_000342.3			7/20		Gene3D:1hynR00,Pfam_domain:PF07565,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	44259905	44259905	C	A	1	0	0	0	0	0	0	0	1	14927	610	22	2		2	SLC4A1	17	44259905	Silent	SNP	C	C3L-00095_TP	1472040	44259905	38997536	676	4057											
PLCD3	0	.	GRCh38	chr17	45112627	45112627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggccctcaggagcgctGgatgcggatttggatgaaga	8	8	18	7	2	1	2	1	1	0	1	1	6	1	6	1	6	2	1	1	6	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2359C>A	p.Gln787Lys	p.Q787K	ENST00000619929	15/15	267	244	23	349	349	0	strelka-varscan-mutect	PLCD3,missense_variant,p.Gln787Lys,ENST00000619929,NM_133373.4;PLCD3,missense_variant,p.Gln109Lys,ENST00000539433,;NMT1,downstream_gene_variant,,ENST00000592782,;NMT1,downstream_gene_variant,,ENST00000258960,NM_021079.4;MIR6784,downstream_gene_variant,,ENST00000611997,;PLCD3,non_coding_transcript_exon_variant,,ENST00000543623,;PLCD3,downstream_gene_variant,,ENST00000611986,;NMT1,downstream_gene_variant,,ENST00000587120,;NMT1,downstream_gene_variant,,ENST00000587670,;PLCD3,downstream_gene_variant,,ENST00000615898,;PLCD3,downstream_gene_variant,,ENST00000618022,;	T	ENST00000619929	Transcript	missense_variant	2447/6107	2359/2370	787/789	Q/K	Cag/Aag		1		-1	PLCD3	HGNC	HGNC:9061	protein_coding	YES	CCDS74077.1	ENSP00000479636	Q8N3E9		UPI0000070705	NM_133373.4	tolerated(0.6)		15/15		hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF33																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	45112627	45112627	G	T	1	0	0	0	0	1	0	0	0	12126	1357	47	2		2	PLCD3	17	45112627	Missense_Mutation	SNP	G	C3L-00095_TP	852722	45112627	38144814	677	4058											
PLCD3	0	.	GRCh38	chr17	45112657	45112657	+	Missense_Mutation	SNP	G	G	C																															ttggatgaagagcgtggctgGtgacagtgaggccccgtcct																								rs375970055		C3L-00095_TP	C3L-00095_NB	G	G																c.2329C>G	p.Pro777Ala	p.P777A	ENST00000619929	15/15	324	300	24	412	412	0	strelka-varscan-mutect	PLCD3,missense_variant,p.Pro777Ala,ENST00000619929,NM_133373.4;PLCD3,missense_variant,p.Pro99Ala,ENST00000539433,;NMT1,downstream_gene_variant,,ENST00000592782,;NMT1,downstream_gene_variant,,ENST00000258960,NM_021079.4;MIR6784,downstream_gene_variant,,ENST00000611997,;PLCD3,non_coding_transcript_exon_variant,,ENST00000543623,;PLCD3,downstream_gene_variant,,ENST00000611986,;NMT1,downstream_gene_variant,,ENST00000587120,;NMT1,downstream_gene_variant,,ENST00000587670,;PLCD3,downstream_gene_variant,,ENST00000615898,;PLCD3,downstream_gene_variant,,ENST00000618022,;	C	ENST00000619929	Transcript	missense_variant	2417/6107	2329/2370	777/789	P/A	Cca/Gca	rs375970055	1		-1	PLCD3	HGNC	HGNC:9061	protein_coding	YES	CCDS74077.1	ENSP00000479636	Q8N3E9		UPI0000070705	NM_133373.4	deleterious(0.01)		15/15		Gene3D:2.60.40.150,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF33,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		rs375970055	.												C	3	2	10	45112657	45112657	G	C	1	0	0	0	0	1	0	0	0	12126	1261	44	4		4	PLCD3	17	45112657	Missense_Mutation	SNP	G	C3L-00095_TP	30	45112657	38144784	678	4059	91	2									
PLCD3	0	.	GRCh38	chr17	45112665	45112665	+	Missense_Mutation	SNP	G	G	A																															agagcgtggctggtgacagtGaggccccgtccttggaaagc																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2321C>T	p.Ser774Leu	p.S774L	ENST00000619929	15/15	322	298	24	406	406	0	strelka-varscan-mutect	PLCD3,missense_variant,p.Ser774Leu,ENST00000619929,NM_133373.4;PLCD3,missense_variant,p.Ser96Leu,ENST00000539433,;NMT1,downstream_gene_variant,,ENST00000592782,;NMT1,downstream_gene_variant,,ENST00000258960,NM_021079.4;MIR6784,downstream_gene_variant,,ENST00000611997,;PLCD3,non_coding_transcript_exon_variant,,ENST00000543623,;PLCD3,downstream_gene_variant,,ENST00000611986,;NMT1,downstream_gene_variant,,ENST00000587120,;NMT1,downstream_gene_variant,,ENST00000587670,;PLCD3,downstream_gene_variant,,ENST00000615898,;PLCD3,downstream_gene_variant,,ENST00000618022,;	A	ENST00000619929	Transcript	missense_variant	2409/6107	2321/2370	774/789	S/L	tCa/tTa		1		-1	PLCD3	HGNC	HGNC:9061	protein_coding	YES	CCDS74077.1	ENSP00000479636	Q8N3E9		UPI0000070705	NM_133373.4	deleterious(0.02)		15/15		Gene3D:2.60.40.150,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF33,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	45112665	45112665	G	A	1	0	0	0	0	1	0	0	0	12126	1294	45	3		3	PLCD3	17	45112665	Missense_Mutation	SNP	G	C3L-00095_TP	8	45112665	38144776	679	4060	91	2									
FMNL1	0	.	GRCh38	chr17	45245344	45245344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggcaggatgactgcatGgtgctcaaggagttcctgag	8	9	16	8	1	1	2	1	2	0	0	2	4	2	4	1	4	3	4	1	4	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2820G>A	p.Met940Ile	p.M940I	ENST00000331495	22/27	313	293	20	379	379	0	strelka-varscan-mutect	FMNL1,missense_variant,p.Met940Ile,ENST00000331495,NM_005892.3;FMNL1,missense_variant,p.Met518Ile,ENST00000587489,;FMNL1,missense_variant,p.Met595Ile,ENST00000328118,;FMNL1,missense_variant,p.Met270Ile,ENST00000586643,;FMNL1,missense_variant,p.Met7Ile,ENST00000589911,;FMNL1,missense_variant,p.Met7Ile,ENST00000586092,;CTD-2020K17.4,intron_variant,,ENST00000420431,;CTD-2020K17.3,upstream_gene_variant,,ENST00000587534,;MAP3K14-AS1,upstream_gene_variant,,ENST00000590100,;MAP3K14-AS1,upstream_gene_variant,,ENST00000592422,;CTD-2020K17.4,downstream_gene_variant,,ENST00000591361,;MAP3K14-AS1,upstream_gene_variant,,ENST00000588504,;MAP3K14-AS1,upstream_gene_variant,,ENST00000585346,;MAP3K14-AS1,upstream_gene_variant,,ENST00000588698,;MAP3K14-AS1,upstream_gene_variant,,ENST00000591263,;CTD-2020K17.4,downstream_gene_variant,,ENST00000589518,;CTD-2020K17.3,upstream_gene_variant,,ENST00000393507,;FMNL1,non_coding_transcript_exon_variant,,ENST00000587856,;	A	ENST00000331495	Transcript	missense_variant	3156/4101	2820/3303	940/1100	M/I	atG/atA		1		1	FMNL1	HGNC	HGNC:1212	protein_coding	YES	CCDS11497.1	ENSP00000329219	O95466		UPI0000246EE9	NM_005892.3	tolerated(0.48)		22/27		Pfam_domain:PF02181,PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188,SMART_domains:SM00498,Superfamily_domains:SSF101447																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	45245344	45245344	G	A	1	0	0	0	0	1	0	0	0	5807	1348	47	3		3	FMNL1	17	45245344	Missense_Mutation	SNP	G	C3L-00095_TP	132679	45245344	38012097	680	4061											
PLEKHM1	0	.	GRCh38	chr17	45475112	45475112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcactcttgcagagacCggtctgagtcctcagcattt	8	12	9	12	1	4	2	2	1	2	1	5	3	5	2	2	1	3	3	2	1	1	3	rs2684710		C3L-00095_TP	C3L-00095_NB	C	C																c.911G>T	p.Arg304Leu	p.R304L	ENST00000430334	4/12	374	349	25	469	468	1	varscan-mutect	PLEKHM1,missense_variant,p.Arg304Leu,ENST00000430334,NM_014798.2;PLEKHM1,downstream_gene_variant,,ENST00000584420,;PLEKHM1,downstream_gene_variant,,ENST00000589780,;PLEKHM1,downstream_gene_variant,,ENST00000636800,;PLEKHM1,intron_variant,,ENST00000582119,;PLEKHM1,downstream_gene_variant,,ENST00000586562,;PLEKHM1,missense_variant,p.Arg304Leu,ENST00000581448,;PLEKHM1,3_prime_UTR_variant,,ENST00000579197,;PLEKHM1,3_prime_UTR_variant,,ENST00000446609,;PLEKHM1,downstream_gene_variant,,ENST00000581932,;PLEKHM1,downstream_gene_variant,,ENST00000586084,;	A	ENST00000430334	Transcript	missense_variant	1045/5263	911/3171	304/1056	R/L	cGg/cTg	rs2684710	1		-1	PLEKHM1	HGNC	HGNC:29017	protein_coding	YES	CCDS32671.1	ENSP00000389913	Q9Y4G2		UPI00001C1FC4	NM_014798.2	tolerated(0.1)		4/12		hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF5																	MODERATE	1	SNV	1			1										PASS		rs2684710	.												A	3	1	10	45475112	45475112	C	A	1	0	0	0	0	1	0	0	0	12173	652	23	1		1	PLEKHM1	17	45475112	Missense_Mutation	SNP	C	C3L-00095_TP	229768	45475112	37782329	681	4062											
MAPT	0	.	GRCh38	chr17	45983754	45983754	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcagaaggagcaggcgcActcggaggagcatttgggaa	11	5	17	8	3	0	1	0	0	0	1	1	5	0	5	0	5	3	4	0	5	2	1	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.950A>T	p.His317Leu	p.H317L	ENST00000344290	6/15	411	381	30	502	500	2	strelka-varscan-mutect	MAPT,missense_variant,p.His317Leu,ENST00000344290,NM_001123066.3;MAPT,missense_variant,p.His317Leu,ENST00000262410,NM_016835.4;MAPT,missense_variant,p.His317Leu,ENST00000415613,;MAPT,missense_variant,p.His317Leu,ENST00000571987,;MAPT,intron_variant,,ENST00000351559,NM_005910.5;MAPT,intron_variant,,ENST00000340799,NM_001123067.3;MAPT,intron_variant,,ENST00000535772,NM_001203251.1,NM_001203252.1;MAPT,intron_variant,,ENST00000446361,NM_016834.4;MAPT,intron_variant,,ENST00000574436,;MAPT,intron_variant,,ENST00000420682,;MAPT,intron_variant,,ENST00000431008,;MAPT,intron_variant,,ENST00000334239,NM_016841.4;MAPT,intron_variant,,ENST00000570299,;MAPT,upstream_gene_variant,,ENST00000577017,;MAPT,non_coding_transcript_exon_variant,,ENST00000576238,;MAPT,intron_variant,,ENST00000576518,;MAPT,downstream_gene_variant,,ENST00000572440,;	T	ENST00000344290	Transcript	missense_variant	1272/6816	950/2331	317/776	H/L	cAc/cTc		1		1	MAPT	HGNC	HGNC:6893	protein_coding	YES	CCDS45715.1	ENSP00000340820	P10636		UPI0001AE66E9	NM_001123066.3	tolerated(0.69)		6/15		hmmpanther:PTHR11501																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	45983754	45983754	A	T	1	0	0	0	0	1	0	0	0	9220	159	6	4		4	MAPT	17	45983754	Missense_Mutation	SNP	A	C3L-00095_TP	508642	45983754	37273687	682	4063											
IGF2BP1	0	.	GRCh38	chr17	49044006	49044006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcaggtgtttatccccGcccaggcagtgggcgccatc	5	9	14	13	2	0	0	0	0	0	0	2	0	1	0	4	4	1	3	4	4	1	2	rs761776197		C3L-00095_TP	C3L-00095_NB	G	G																c.1240G>A	p.Ala414Thr	p.A414T	ENST00000290341	11/15	250	237	13	321	321	0	strelka-varscan-mutect	IGF2BP1,missense_variant,p.Ala414Thr,ENST00000290341,NM_006546.3;IGF2BP1,missense_variant,p.Ala275Thr,ENST00000431824,NM_001160423.1;	A	ENST00000290341	Transcript	missense_variant	1574/8274	1240/1734	414/577	A/T	Gcc/Acc	rs761776197,COSM5039503	1		1	IGF2BP1	HGNC	HGNC:28866	protein_coding	YES	CCDS11543.1	ENSP00000290341	Q9NZI8		UPI0000117170	NM_006546.3	tolerated(0.76)		11/15		PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF92,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs761776197	.												A	3	1	10	49044006	49044006	G	A	1	0	0	0	0	1	0	0	0	7479	1087	38	1		1	IGF2BP1	17	49044006	Missense_Mutation	SNP	G	C3L-00095_TP	3060252	49044006	34213435	683	4064											
B4GALNT2	0	.	GRCh38	chr17	49133182	49133182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggcgctgacccagcctggGgcccgtttgctgcccacggg	4	6	16	15	3	0	1	0	1	0	0	0	2	0	1	4	4	3	3	4	4	0	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.157G>T	p.Gly53Cys	p.G53C	ENST00000300404	1/11	163	149	14	247	247	0	strelka-varscan-mutect	B4GALNT2,missense_variant,p.Gly53Cys,ENST00000300404,NM_153446.2;B4GALNT2,intron_variant,,ENST00000393354,NM_001159387.1;B4GALNT2,intron_variant,,ENST00000504681,NM_001159388.1;	T	ENST00000300404	Transcript	missense_variant	216/1906	157/1701	53/566	G/C	Ggc/Tgc		1		1	B4GALNT2	HGNC	HGNC:24136	protein_coding	YES	CCDS11544.1	ENSP00000300404	Q8NHY0		UPI000013E655	NM_153446.2	deleterious_low_confidence(0.01)		1/11																			MODERATE	1	SNV	1			1										PASS		rs1466581928	.												T	3	4	10	49133182	49133182	G	T	1	0	0	0	0	1	0	0	0	1423	1232	43	2		2	B4GALNT2	17	49133182	Missense_Mutation	SNP	G	C3L-00095_TP	89176	49133182	34124259	684	4065											
COL1A1	0	.	GRCh38	chr17	50189378	50189378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatctgagctggcacttacaGcaggaccatcagcaccaggg	11	6	12	12	0	2	1	1	1	1	0	2	3	2	2	2	3	4	4	2	3	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2828C>T	p.Ala943Val	p.A943V	ENST00000225964	39/51	610	563	47	693	692	1	strelka-varscan-mutect	COL1A1,missense_variant,p.Ala943Val,ENST00000225964,NM_000088.3;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000510710,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,upstream_gene_variant,,ENST00000511732,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000504289,;COL1A1,downstream_gene_variant,,ENST00000494334,;	A	ENST00000225964	Transcript	missense_variant,splice_region_variant	2947/6727	2828/4395	943/1464	A/V	gCt/gTt		1		-1	COL1A1	HGNC	HGNC:2197	protein_coding	YES	CCDS11561.1	ENSP00000225964	P02452		UPI0000DACAC3	NM_000088.3	tolerated(0.12)		39/51		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF569,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	50189378	50189378	G	A	1	0	0	0	0	1	0	0	0	3465	985	34	3		3	COL1A1	17	50189378	Missense_Mutation	SNP	G	C3L-00095_TP	1056196	50189378	33068063	685	4066											
CACNA1G	0	.	GRCh38	chr17	50576280	50576280	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcctcaacatcccaccCgggccctacagctccatgca	10	5	6	20	1	1	0	1	0	0	0	3	0	3	0	6	1	5	2	6	1	2	1	rs369327128		C3L-00095_TP	C3L-00095_NB	C	C																c.1878C>G	p.=	p.P626P	ENST00000359106	8/38	369	340	29	402	402	0	strelka-varscan-mutect	CACNA1G,synonymous_variant,p.=,ENST00000354983,NM_198396.2;CACNA1G,synonymous_variant,p.=,ENST00000352832,NM_198387.2;CACNA1G,synonymous_variant,p.=,ENST00000359106,NM_018896.4;CACNA1G,synonymous_variant,p.=,ENST00000360761,NM_198382.2;CACNA1G,synonymous_variant,p.=,ENST00000442258,NM_198388.2;CACNA1G,synonymous_variant,p.=,ENST00000429973,NM_198386.2;CACNA1G,synonymous_variant,p.=,ENST00000507336,NM_198377.2;CACNA1G,synonymous_variant,p.=,ENST00000358244,NM_198376.2;CACNA1G,synonymous_variant,p.=,ENST00000507510,NM_198385.2;CACNA1G,synonymous_variant,p.=,ENST00000515765,NM_198380.2;CACNA1G,synonymous_variant,p.=,ENST00000515411,NM_001256324.1;CACNA1G,synonymous_variant,p.=,ENST00000502264,NM_198383.2;CACNA1G,synonymous_variant,p.=,ENST00000510115,NM_198379.2;CACNA1G,synonymous_variant,p.=,ENST00000514079,NM_001256325.1;CACNA1G,synonymous_variant,p.=,ENST00000513689,NM_001256326.1;CACNA1G,synonymous_variant,p.=,ENST00000515165,NM_198384.2;CACNA1G,synonymous_variant,p.=,ENST00000507609,NM_001256327.1;CACNA1G,synonymous_variant,p.=,ENST00000512389,NM_198378.2;CACNA1G,synonymous_variant,p.=,ENST00000514181,NM_001256328.1;CACNA1G,synonymous_variant,p.=,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,synonymous_variant,p.=,ENST00000513964,NM_001256360.1,NM_001256361.1,NM_001256330.1;CACNA1G,synonymous_variant,p.=,ENST00000510366,NM_001256331.1;CACNA1G,synonymous_variant,p.=,ENST00000514717,NM_001256332.1;CACNA1G,synonymous_variant,p.=,ENST00000505165,NM_001256333.1;CACNA1G,synonymous_variant,p.=,ENST00000507896,NM_001256334.1;CACNA1G,synonymous_variant,p.=,ENST00000416767,;CACNA1G,downstream_gene_variant,,ENST00000570567,;CACNA1G,synonymous_variant,p.=,ENST00000506406,;CACNA1G,synonymous_variant,p.=,ENST00000504076,;CACNA1G,synonymous_variant,p.=,ENST00000511765,;CACNA1G,synonymous_variant,p.=,ENST00000503436,;CACNA1G,synonymous_variant,p.=,ENST00000511768,;CACNA1G,synonymous_variant,p.=,ENST00000503607,;	G	ENST00000359106	Transcript	synonymous_variant	1878/7648	1878/7134	626/2377	P	ccC/ccG	rs369327128	1		1	CACNA1G	HGNC	HGNC:1394	protein_coding	YES	CCDS45730.1	ENSP00000352011	O43497		UPI000012727A	NM_018896.4			8/38																			LOW	1	SNV	1			1										PASS		rs369327128	.												G	2	3	10	50576280	50576280	C	G	1	0	0	0	0	0	0	0	1	2232	639	23	4		4	CACNA1G	17	50576280	Silent	SNP	C	C3L-00095_TP	386902	50576280	32681161	686	4067											
KIF2B	0	.	GRCh38	chr17	53824837	53824837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgaagaggttgaaacattaCccactctgttagggaaggat	13	11	11	6	0	1	3	0	2	1	1	1	5	1	5	1	3	2	2	1	3	5	4			C3L-00095_TP	C3L-00095_NB	C	C																c.1804C>T	p.Pro602Ser	p.P602S	ENST00000268919	1/1	78	73	5	84	84	0	varscan-mutect	KIF2B,missense_variant,p.Pro602Ser,ENST00000268919,NM_032559.4;	T	ENST00000268919	Transcript	missense_variant	1937/2313	1804/2022	602/673	P/S	Ccc/Tcc	COSM706804	1		1	KIF2B	HGNC	HGNC:29443	protein_coding	YES	CCDS32685.1	ENSP00000268919	Q8N4N8	A0A140VKG5	UPI000013D7E6	NM_032559.4	tolerated(0.77)		1/1		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF524											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	10	53824837	53824837	C	T	1	0	0	0	0	1	0	0	0	8163	507	18	3		3	KIF2B	17	53824837	Missense_Mutation	SNP	C	C3L-00095_TP	3248557	53824837	29432604	687	4068											
MSI2	0	.	GRCh38	chr17	57616075	57616075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgcgttcatgcttggcatgGggatgctgggtgagtctgga	6	11	17	7	2	2	1	1	1	1	0	2	3	2	3	0	5	2	4	0	5	0	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.643G>T	p.Gly215Trp	p.G215W	ENST00000284073	9/14	124	108	16	113	113	0	strelka-varscan-mutect	MSI2,missense_variant,p.Gly215Trp,ENST00000284073,NM_138962.2;MSI2,missense_variant,p.Gly211Trp,ENST00000322684,NM_170721.1;MSI2,missense_variant,p.Gly193Trp,ENST00000416426,;MSI2,missense_variant,p.Gly111Trp,ENST00000579180,;MSI2,missense_variant,p.Gly154Trp,ENST00000442934,;RN7SL449P,upstream_gene_variant,,ENST00000464937,;MSI2,non_coding_transcript_exon_variant,,ENST00000579505,;MSI2,non_coding_transcript_exon_variant,,ENST00000579205,;MSI2,non_coding_transcript_exon_variant,,ENST00000577241,;	T	ENST00000284073	Transcript	missense_variant	852/6364	643/987	215/328	G/W	Ggg/Tgg		1		1	MSI2	HGNC	HGNC:18585	protein_coding	YES	CCDS11596.1	ENSP00000284073	Q96DH6		UPI0000070D73	NM_138962.2	deleterious(0)		9/14		hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF476																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	57616075	57616075	G	T	1	0	0	0	0	1	0	0	0	9859	1232	43	2		2	MSI2	17	57616075	Missense_Mutation	SNP	G	C3L-00095_TP	3791238	57616075	25641366	688	4069											
INTS2	0	.	GRCh38	chr17	61897492	61897492	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catccccaaagtggaacagaCcaagtcaatgatagcactaa	17	6	7	11	0	1	2	1	1	0	1	2	3	2	3	3	1	2	1	3	1	6	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1495G>T	p.Val499Phe	p.V499F	ENST00000444766	11/25	163	149	14	199	196	3	strelka-varscan-mutect	INTS2,missense_variant,p.Val499Phe,ENST00000444766,NM_020748.2;INTS2,missense_variant,p.Val499Phe,ENST00000617492,;INTS2,missense_variant,p.Val491Phe,ENST00000251334,;INTS2,upstream_gene_variant,,ENST00000578805,;	A	ENST00000444766	Transcript	missense_variant	1571/5878	1495/3615	499/1204	V/F	Gtc/Ttc		1		-1	INTS2	HGNC	HGNC:29241	protein_coding	YES	CCDS45750.1	ENSP00000414237	Q9H0H0		UPI0000E5A03A	NM_020748.2	deleterious(0)		11/25		Pfam_domain:PF14750,Prints_domain:PR02105,hmmpanther:PTHR28608																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	61897492	61897492	C	A	1	0	0	0	0	1	0	0	0	7680	507	18	2		2	INTS2	17	61897492	Missense_Mutation	SNP	C	C3L-00095_TP	4281417	61897492	21359949	689	4070											
ACE	0	.	GRCh38	chr17	63496855	63496855	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagccatgcagctgatcacGggccagcccaacatgagcgc	11	4	12	14	2	1	2	1	2	0	0	1	3	1	2	3	1	6	2	3	1	2	0	rs141429845		C3L-00095_TP	C3L-00095_NB	G	G																c.3561G>A	p.=	p.T1187T	ENST00000290866	24/25	428	387	41	556	555	1	strelka-varscan-mutect	ACE,synonymous_variant,p.=,ENST00000428043,;ACE,synonymous_variant,p.=,ENST00000290866,NM_000789.3;ACE,synonymous_variant,p.=,ENST00000290863,NM_152830.2;ACE,synonymous_variant,p.=,ENST00000413513,NM_001178057.1;ACE,synonymous_variant,p.=,ENST00000579409,;ACE,downstream_gene_variant,,ENST00000582761,;ACE,non_coding_transcript_exon_variant,,ENST00000577418,;CTD-2501B8.1,synonymous_variant,p.=,ENST00000577647,;ACE,3_prime_UTR_variant,,ENST00000579314,;ACE,3_prime_UTR_variant,,ENST00000578839,;ACE,non_coding_transcript_exon_variant,,ENST00000582244,;ACE,downstream_gene_variant,,ENST00000584865,;ACE,downstream_gene_variant,,ENST00000583645,;ACE,downstream_gene_variant,,ENST00000578679,;	A	ENST00000290866	Transcript	synonymous_variant	3585/4959	3561/3921	1187/1306	T	acG/acA	rs141429845,COSM4068566,COSM4068567,COSM4068568	1		1	ACE	HGNC	HGNC:2707	protein_coding	YES	CCDS11637.1	ENSP00000290866	P12821		UPI000002B8AD	NM_000789.3			24/25		hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs141429845	.												A	2	1	10	63496855	63496855	G	A	1	0	0	0	0	0	0	0	1	174	1103	39	1		1	ACE	17	63496855	Silent	SNP	G	C3L-00095_TP	1599363	63496855	19760586	690	4071											
CD79B	0	.	GRCh38	chr17	63929842	63929842	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggatcatgatgataccAtccttcagcgtgttcctctg	7	14	9	11	1	4	2	2	2	2	0	6	3	6	3	3	1	2	1	3	1	1	3	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.480T>A	p.Asp160Glu	p.D160E	ENST00000392795	4/6	632	587	45	773	773	0	strelka-varscan-mutect	CD79B,missense_variant,p.Asp159Glu,ENST00000006750,NM_000626.2;CD79B,missense_variant,p.Asp160Glu,ENST00000392795,NM_001039933.1;CD79B,missense_variant,p.Asp55Glu,ENST00000349817,NM_021602.2;CD79B,non_coding_transcript_exon_variant,,ENST00000559358,;CD79B,downstream_gene_variant,,ENST00000558969,;CD79B,downstream_gene_variant,,ENST00000583260,;	T	ENST00000392795	Transcript	missense_variant	555/1254	480/693	160/230	D/E	gaT/gaA		1		-1	CD79B	HGNC	HGNC:1699	protein_coding	YES	CCDS42372.1	ENSP00000376544	P40259		UPI00001B2490	NM_001039933.1	deleterious(0.03)		4/6		hmmpanther:PTHR14334:SF2,hmmpanther:PTHR14334																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	63929842	63929842	A	T	1	0	0	0	0	1	0	0	0	2741	214	8	4		4	CD79B	17	63929842	Missense_Mutation	SNP	A	C3L-00095_TP	432987	63929842	19327599	691	4072											
PRKAR1A	0	.	GRCh38	chr17	68524067	68524067	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcgcaggagagactgtGattcagcaaggtaagggcct	11	10	13	7	1	1	2	1	1	0	1	2	4	1	3	1	3	1	3	1	3	3	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.492G>T	p.=	p.V164V	ENST00000392711	5/11	457	423	34	523	522	1	strelka-varscan-mutect	PRKAR1A,synonymous_variant,p.=,ENST00000392711,NM_212472.2,NM_002734.4;PRKAR1A,synonymous_variant,p.=,ENST00000589228,NM_001278433.1;PRKAR1A,synonymous_variant,p.=,ENST00000536854,NM_001276289.1;PRKAR1A,synonymous_variant,p.=,ENST00000358598,NM_212471.2;PRKAR1A,synonymous_variant,p.=,ENST00000586397,;PRKAR1A,synonymous_variant,p.=,ENST00000588188,NM_001276290.1;PRKAR1A,synonymous_variant,p.=,ENST00000589017,;PRKAR1A,synonymous_variant,p.=,ENST00000585981,;PRKAR1A,synonymous_variant,p.=,ENST00000588702,;PRKAR1A,synonymous_variant,p.=,ENST00000588178,;PRKAR1A,upstream_gene_variant,,ENST00000592800,;PRKAR1A,downstream_gene_variant,,ENST00000585427,;PRKAR1A,downstream_gene_variant,,ENST00000585815,;PRKAR1A,downstream_gene_variant,,ENST00000589480,;RP11-120M18.2,non_coding_transcript_exon_variant,,ENST00000590353,;PRKAR1A,3_prime_UTR_variant,,ENST00000392710,;PRKAR1A,3_prime_UTR_variant,,ENST00000585608,;PRKAR1A,non_coding_transcript_exon_variant,,ENST00000585460,;PRKAR1A,upstream_gene_variant,,ENST00000586541,;PRKAR1A,upstream_gene_variant,,ENST00000585907,;	T	ENST00000392711	Transcript	synonymous_variant	699/4327	492/1146	164/381	V	gtG/gtT		1		1	PRKAR1A	HGNC	HGNC:9388	protein_coding	YES	CCDS11678.1	ENSP00000376475	P10644	B2R5T5	UPI0000001C57	NM_212472.2,NM_002734.4			5/11		PROSITE_profiles:PS50042,hmmpanther:PTHR11635:SF129,hmmpanther:PTHR11635,PROSITE_patterns:PS00888,Gene3D:2.60.120.10,PIRSF_domain:PIRSF000548,Pfam_domain:PF00027,SMART_domains:SM00100,Superfamily_domains:SSF51206,Prints_domain:PR00103																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	10	68524067	68524067	G	T	1	0	0	0	0	0	0	0	1	12636	1277	45	2		2	PRKAR1A	17	68524067	Silent	SNP	G	C3L-00095_TP	4594225	68524067	14733374	692	4073											
MYO15B	0	.	GRCh38	chr17	75610170	75610170	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcccggcctccaggaagCggtacctccggcggcgggca	5	6	14	16	5	0	0	0	0	0	0	3	1	3	1	5	6	2	2	5	6	2	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.4246C>A	p.=	p.R1416R	ENST00000610510	22/63	60	54	6	80	80	0	strelka-mutect	MYO15B,synonymous_variant,p.=,ENST00000610510,;MYO15B,synonymous_variant,p.=,ENST00000633867,;MYO15B,synonymous_variant,p.=,ENST00000583560,;MYO15B,upstream_gene_variant,,ENST00000578462,;MYO15B,synonymous_variant,p.=,ENST00000621743,;MYO15B,3_prime_UTR_variant,,ENST00000619501,;MYO15B,3_prime_UTR_variant,,ENST00000584516,;MYO15B,3_prime_UTR_variant,,ENST00000582012,;MYO15B,upstream_gene_variant,,ENST00000612587,;MYO15B,downstream_gene_variant,,ENST00000580724,;	A	ENST00000610510	Transcript	synonymous_variant	4246/9195	4246/9195	1416/3064	R	Cgg/Agg		1		1	MYO15B	HGNC	HGNC:14083	protein_coding	YES		ENSP00000488624		A0A0J9YY01	UPI00064546F0				22/63																			LOW	1	SNV	5			1										PASS		rs1269927689	.												A	2	1	10	75610170	75610170	C	A	1	0	0	0	0	0	0	0	1	10064	782	27	1		1	MYO15B	17	75610170	Silent	SNP	C	C3L-00095_TP	7086103	75610170	7647271	693	4074											
MYO15B	0	.	GRCh38	chr17	75611929	75611929	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatcaccgagtgcctgccGcctgaggttcctgcccggcc	5	7	12	17	3	1	1	1	1	0	0	2	2	2	1	7	2	4	2	7	2	0	1	rs138855884		C3L-00095_TP	C3L-00095_NB	G	G																c.4497G>T	p.=	p.P1499P	ENST00000610510	25/63	195	183	12	221	221	0	strelka-varscan-mutect	MYO15B,synonymous_variant,p.=,ENST00000610510,;MYO15B,synonymous_variant,p.=,ENST00000633867,;MYO15B,downstream_gene_variant,,ENST00000583560,;MYO15B,non_coding_transcript_exon_variant,,ENST00000578462,;MYO15B,synonymous_variant,p.=,ENST00000621743,;MYO15B,3_prime_UTR_variant,,ENST00000619501,;MYO15B,3_prime_UTR_variant,,ENST00000584516,;MYO15B,upstream_gene_variant,,ENST00000612587,;MYO15B,upstream_gene_variant,,ENST00000577342,;MYO15B,upstream_gene_variant,,ENST00000578005,;MYO15B,upstream_gene_variant,,ENST00000584723,;MYO15B,upstream_gene_variant,,ENST00000610429,;MYO15B,downstream_gene_variant,,ENST00000582012,;MYO15B,downstream_gene_variant,,ENST00000580724,;	T	ENST00000610510	Transcript	synonymous_variant	4497/9195	4497/9195	1499/3064	P	ccG/ccT	rs138855884	1		1	MYO15B	HGNC	HGNC:14083	protein_coding	YES		ENSP00000488624		A0A0J9YY01	UPI00064546F0				25/63		hmmpanther:PTHR22692,hmmpanther:PTHR22692:SF8																	LOW	1	SNV	5			1										PASS		rs138855884	.												T	2	4	10	75611929	75611929	G	T	1	0	0	0	0	0	0	0	1	10064	1074	38	1		1	MYO15B	17	75611929	Silent	SNP	G	C3L-00095_TP	1759	75611929	7645512	694	4075											
FOXJ1	0	.	GRCh38	chr17	76137789	76137789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccacccgcttgggcagcGgctgtttgcgcttatgcccc	3	10	13	15	3	0	0	0	0	0	0	0	0	0	0	4	3	3	5	4	3	1	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.830C>A	p.Pro277Gln	p.P277Q	ENST00000322957	3/3	91	86	5	154	154	0	strelka-varscan-mutect	FOXJ1,missense_variant,p.Pro277Gln,ENST00000322957,NM_001454.3;RNF157,downstream_gene_variant,,ENST00000269391,NM_052916.2;RP11-449J21.5,upstream_gene_variant,,ENST00000590137,;RP11-449J21.5,upstream_gene_variant,,ENST00000586627,;RP11-449J21.5,upstream_gene_variant,,ENST00000585542,;RNF157,downstream_gene_variant,,ENST00000589912,;	T	ENST00000322957	Transcript	missense_variant	1185/2641	830/1266	277/421	P/Q	cCg/cAg		1		-1	FOXJ1	HGNC	HGNC:3816	protein_coding	YES	CCDS32739.1	ENSP00000323880	Q92949	A0A024R8P1	UPI000000DB81	NM_001454.3	tolerated(0.05)		3/3		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF119																	MODERATE	1	SNV	1			1										PASS		rs1351956108	.												T	3	4	10	76137789	76137789	G	T	1	0	0	0	0	1	0	0	0	5874	1116	39	1		1	FOXJ1	17	76137789	Missense_Mutation	SNP	G	C3L-00095_TP	525860	76137789	7119652	695	4076											
ENPP7	0	.	GRCh38	chr17	79735301	79735301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggagatggtgcggcaggtgGaccggaccgtgggctacctc	6	6	19	10	3	0	1	0	0	0	1	1	4	0	3	3	7	2	2	3	7	1	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.658G>A	p.Asp220Asn	p.D220N	ENST00000328313	3/6	363	332	31	472	472	0	strelka-varscan-mutect	ENPP7,missense_variant,p.Asp220Asn,ENST00000328313,NM_178543.4;ENPP7,upstream_gene_variant,,ENST00000576512,;	A	ENST00000328313	Transcript	missense_variant	879/2043	658/1377	220/458	D/N	Gac/Aac		1		1	ENPP7	HGNC	HGNC:23764	protein_coding	YES	CCDS11763.1	ENSP00000332656	Q6UWV6		UPI000019219F	NM_178543.4	deleterious(0.04)		3/6		Gene3D:3.40.720.10,Pfam_domain:PF01663,hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF63,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	79735301	79735301	G	A	1	0	0	0	0	1	0	0	0	4980	1174	41	3		3	ENPP7	17	79735301	Missense_Mutation	SNP	G	C3L-00095_TP	3597512	79735301	3522140	696	4077											
BAHCC1	0	.	GRCh38	chr17	81445642	81445642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgaggaaaagaatggggagGgtcagcagtccacggccgac	12	3	16	10	3	1	1	1	0	0	1	2	5	2	3	3	5	1	1	3	5	3	0	rs782031139		C3L-00095_TP	C3L-00095_NB	G	G																c.3124G>T	p.Gly1042Cys	p.G1042C	ENST00000584436	10/29	240	225	15	302	300	2	strelka-varscan-mutect	BAHCC1,missense_variant,p.Gly1042Cys,ENST00000584436,NM_001291324.1;BAHCC1,missense_variant,p.Gly1042Cys,ENST00000307745,;BAHCC1,downstream_gene_variant,,ENST00000585224,;	T	ENST00000584436	Transcript	missense_variant	3491/10801	3124/7920	1042/2639	G/C	Ggt/Tgt	rs782031139	1		1	BAHCC1	HGNC	HGNC:29279	protein_coding	YES	CCDS74173.1	ENSP00000462154		A0A075B747	UPI0003EAE637	NM_001291324.1	deleterious(0.05)		10/29		hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22																	MODERATE	1	SNV	5			1										PASS		rs782031139	.												T	3	4	10	81445642	81445642	G	T	1	0	0	0	0	1	0	0	0	1451	1232	43	2		2	BAHCC1	17	81445642	Missense_Mutation	SNP	G	C3L-00095_TP	1710341	81445642	1811799	697	4078											
MRPL12	0	.	GRCh38	chr17	81704427	81704427	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagacctcaacgagctcctGaaggtatcgtgagagggtgg	10	8	14	9	2	2	3	2	2	0	2	4	5	3	3	2	3	2	2	2	3	3	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.258G>A	p.=	p.L86L	ENST00000571730	2/15	84	74	10	100	100	0	strelka-varscan-mutect	RP13-1032I1.10,synonymous_variant,p.=,ENST00000571730,;MRPL12,synonymous_variant,p.=,ENST00000333676,NM_002949.3;HGS,downstream_gene_variant,,ENST00000329138,NM_004712.4;HGS,downstream_gene_variant,,ENST00000573320,;HGS,downstream_gene_variant,,ENST00000575078,;RP13-1032I1.7,upstream_gene_variant,,ENST00000575312,;HGS,downstream_gene_variant,,ENST00000570355,;HGS,downstream_gene_variant,,ENST00000570652,;HGS,downstream_gene_variant,,ENST00000573949,;	A	ENST00000571730	Transcript	synonymous_variant	389/1922	258/1329	86/442	L	ctG/ctA		1		1	RP13-1032I1.10	Clone_based_vega_gene		protein_coding	YES		ENSP00000461324		B4DLN1	UPI00017A75DC				2/15		Pfam_domain:PF16320,Superfamily_domains:SSF48300																	LOW		SNV	2			1										PASS		.	.												A	2	1	10	81704427	81704427	G	A	1	0	0	0	0	0	0	0	1	9752	1304	45	3		3	MRPL12	17	81704427	Silent	SNP	G	C3L-00095_TP	258785	81704427	1553014	698	4079											
FASN	0	.	GRCh38	chr17	82084020	82084020	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactgagggcgatggcgaTggcggcctggcccacgccgc	6	4	17	14	5	0	2	0	1	0	1	0	4	0	2	3	5	0	0	3	5	0	0	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.5053A>T	p.Ile1685Phe	p.I1685F	ENST00000306749	29/43	279	256	23	323	323	0	strelka-varscan-mutect	FASN,missense_variant,p.Ile1685Phe,ENST00000306749,NM_004104.4;FASN,missense_variant,p.Ile1683Phe,ENST00000634990,;FASN,upstream_gene_variant,,ENST00000636628,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,upstream_gene_variant,,ENST00000580382,;FASN,downstream_gene_variant,,ENST00000579410,;	A	ENST00000306749	Transcript	missense_variant	5272/8565	5053/7536	1685/2511	I/F	Atc/Ttc		1		-1	FASN	HGNC	HGNC:3594	protein_coding	YES	CCDS11801.1	ENSP00000304592	P49327		UPI000013EB82	NM_004104.4	deleterious(0)		29/43		Gene3D:3.40.50.720,Pfam_domain:PF00107,hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF280,SMART_domains:SM00829,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		rs899592172	.												A	3	1	10	82084020	82084020	T	A	1	0	0	0	0	1	0	0	0	5543	1464	51	4		4	FASN	17	82084020	Missense_Mutation	SNP	T	C3L-00095_TP	379593	82084020	1173421	699	4080											
NARF	0	.	GRCh38	chr17	82464307	82464307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggagaattccacaagttGgctgatgccaagatattttt	13	12	10	6	0	0	3	0	1	0	2	1	4	1	3	2	2	1	2	2	2	5	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.129G>T	p.Leu43Phe	p.L43F	ENST00000309794	3/11	121	109	12	190	190	0	strelka-mutect	NARF,missense_variant,p.Leu43Phe,ENST00000309794,NM_031968.2,NM_012336.3;NARF,missense_variant,p.Leu43Phe,ENST00000412079,;NARF,missense_variant,p.Leu43Phe,ENST00000457415,;NARF,missense_variant,p.Leu43Phe,ENST00000577432,;NARF,5_prime_UTR_variant,,ENST00000390006,NM_001038618.2;NARF,5_prime_UTR_variant,,ENST00000577410,;NARF,5_prime_UTR_variant,,ENST00000580296,;NARF,5_prime_UTR_variant,,ENST00000579198,;NARF,5_prime_UTR_variant,,ENST00000584411,;NARF,intron_variant,,ENST00000345415,NM_001083608.1;NARF,non_coding_transcript_exon_variant,,ENST00000581743,;NARF,intron_variant,,ENST00000583181,;NARF,intron_variant,,ENST00000584192,;RP13-20L14.10,downstream_gene_variant,,ENST00000623828,;NARF,missense_variant,p.Leu43Phe,ENST00000374611,;NARF,missense_variant,p.Leu43Phe,ENST00000582907,;NARF,missense_variant,p.Leu43Phe,ENST00000581795,;NARF,missense_variant,p.Leu43Phe,ENST00000581202,;NARF,3_prime_UTR_variant,,ENST00000580748,;NARF,non_coding_transcript_exon_variant,,ENST00000577812,;NARF,intron_variant,,ENST00000578082,;NARF,downstream_gene_variant,,ENST00000582585,;NARF,upstream_gene_variant,,ENST00000579083,;	T	ENST00000309794	Transcript	missense_variant	327/3949	129/1371	43/456	L/F	ttG/ttT		1		1	NARF	HGNC	HGNC:29916	protein_coding	YES	CCDS32777.1	ENSP00000309899	Q9UHQ1		UPI0000073D0C	NM_031968.2,NM_012336.3	deleterious(0)		3/11		Gene3D:1hfeL01,hmmpanther:PTHR11615,hmmpanther:PTHR11615:SF124																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	82464307	82464307	G	T	1	0	0	0	0	1	0	0	0	10177	1339	47	2		2	NARF	17	82464307	Missense_Mutation	SNP	G	C3L-00095_TP	380287	82464307	793134	700	4081											
CLUL1	0	.	GRCh38	chr18	633328	633328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaggcctgatttcaaagaTgttacctgggcaggacagag	11	8	14	8	1	1	3	1	1	0	2	1	5	1	5	2	4	1	2	2	4	2	2	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.1043T>C	p.Met348Thr	p.M348T	ENST00000540035	8/11	205	185	20	232	232	0	strelka-varscan-mutect	CLUL1,missense_variant,p.Met321Thr,ENST00000581619,;CLUL1,missense_variant,p.Met348Thr,ENST00000540035,NM_001289036.1;CLUL1,missense_variant,p.Met348Thr,ENST00000620089,;CLUL1,missense_variant,p.Met296Thr,ENST00000400606,NM_014410.4;CLUL1,missense_variant,p.Met296Thr,ENST00000338387,NM_001318522.1,NM_199167.1;CLUL1,missense_variant,p.Met296Thr,ENST00000579494,;	C	ENST00000540035	Transcript	missense_variant	1252/2199	1043/1557	348/518	M/T	aTg/aCg		1		1	CLUL1	HGNC	HGNC:2096	protein_coding	YES	CCDS74187.1	ENSP00000441726		F5GWQ8	UPI000206520E	NM_001289036.1	tolerated(0.51)		8/11		hmmpanther:PTHR10970:SF2,hmmpanther:PTHR10970,Pfam_domain:PF01093,SMART_domains:SM00035																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	10	633328	633328	T	C	1	0	0	0	0	1	0	0	0	3343	1464	51	5		5	CLUL1	18	633328	Missense_Mutation	SNP	T	C3L-00095_TP		633328	79739957	701	4082											
PTPRM	0	.	GRCh38	chr18	8378264	8378264	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgttccatctccttctccaGgagcagtatgtgtttatcca	7	15	7	12	1	2	0	0	0	2	0	7	1	4	1	4	1	1	4	4	1	2	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.3463-1G>T		p.X1155_splice	ENST00000580170		63	58	5	78	78	0	strelka-varscan-mutect	PTPRM,splice_acceptor_variant,,ENST00000332175,NM_002845.3;PTPRM,splice_acceptor_variant,,ENST00000580170,NM_001105244.1;PTPRM,splice_acceptor_variant,,ENST00000400053,;PTPRM,splice_acceptor_variant,,ENST00000400060,;PTPRM,splice_acceptor_variant,,ENST00000583153,;PTPRM,non_coding_transcript_exon_variant,,ENST00000577827,;	T	ENST00000580170	Transcript	splice_acceptor_variant	-/5941	3463/4398	1155/1465				1		1	PTPRM	HGNC	HGNC:9675	protein_coding	YES	CCDS58613.1	ENSP00000463325	P28827		UPI00015CFC03	NM_001105244.1				26/32																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	10	8378264	8378264	G	T	1	0	0	0	0	0	0	1	0	12960	1014	35	2		2	PTPRM	18	8378264	Splice_Site	SNP	G	C3L-00095_TP	7744936	8378264	71995021	702	4083											
APCDD1	0	.	GRCh38	chr18	10487760	10487760	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aactacctcacacggagtacGagatcttcaaaatggaacag	16	7	8	10	2	3	1	2	0	1	1	3	4	3	3	1	2	4	1	1	2	6	3	rs763105125		C3L-00095_TP	C3L-00095_NB	G	G																c.1267G>C	p.Glu423Gln	p.E423Q	ENST00000355285	5/5	340	311	29	438	438	0	strelka-varscan-mutect	APCDD1,missense_variant,p.Glu423Gln,ENST00000355285,NM_153000.4;APCDD1,downstream_gene_variant,,ENST00000578882,;APCDD1,3_prime_UTR_variant,,ENST00000423585,;APCDD1,3_prime_UTR_variant,,ENST00000579685,;APCDD1,downstream_gene_variant,,ENST00000582723,;	C	ENST00000355285	Transcript	missense_variant	1621/3809	1267/1545	423/514	E/Q	Gag/Cag	rs763105125	1		1	APCDD1	HGNC	HGNC:15718	protein_coding	YES	CCDS11849.1	ENSP00000347433	Q8J025		UPI000000D766	NM_153000.4	tolerated(0.08)		5/5		Pfam_domain:PF14921,hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF2,SMART_domains:SM01352																	MODERATE	1	SNV	1			1										PASS		rs763105125	.												C	3	2	10	10487760	10487760	G	C	1	0	0	0	0	1	0	0	0	885	1059	37	4		4	APCDD1	18	10487760	Missense_Mutation	SNP	G	C3L-00095_TP	2109496	10487760	69885525	703	4084											
PIEZO2	0	.	GRCh38	chr18	10691261	10691261	+	Frame_Shift_Del	DEL	T	T	-																															ggttgacgtaattgtagctcTtggtgaggaagttccccagg																								novel		C3L-00095_TP	C3L-00095_NB	T	T																c.6974delA	p.Lys2325ArgfsTer20	p.K2325Rfs*20	ENST00000503781	44/52	87	81	6	111	110	1	varindel-pindel	PIEZO2,frameshift_variant,p.Lys2276ArgfsTer20,ENST00000383408,;PIEZO2,frameshift_variant,p.Lys2325ArgfsTer20,ENST00000302079,;PIEZO2,frameshift_variant,p.Lys2350ArgfsTer20,ENST00000580640,;PIEZO2,frameshift_variant,p.Lys2325ArgfsTer20,ENST00000503781,NM_022068.3;PIEZO2,frameshift_variant,p.Lys282ArgfsTer20,ENST00000538948,;PIEZO2,3_prime_UTR_variant,,ENST00000582913,;	-	ENST00000503781	Transcript	frameshift_variant	6974/8259	6974/8259	2325/2752	K/X	aAg/ag		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3			44/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	10	10691261	10691261	T	-	1	0	1	0	1	0	0	0	0	11975	1609	56	0		0	PIEZO2	18	10691261	Frame_Shift_Del	DEL	T	C3L-00095_TP	203501	10691261	69682024	704	4085											
ZNF521	0	.	GRCh38	chr18	25227061	25227061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctacgaagagctcgtggCagtagacacactggagggcc	10	6	13	12	2	1	2	0	0	1	2	2	4	1	3	2	3	2	3	2	3	3	2			C3L-00095_TP	C3L-00095_NB	C	C																c.857G>T	p.Cys286Phe	p.C286F	ENST00000361524	4/8	292	270	22	361	360	1	strelka-varscan-mutect	ZNF521,missense_variant,p.Cys286Phe,ENST00000361524,NM_015461.2;ZNF521,missense_variant,p.Cys66Phe,ENST00000584787,NM_001308225.1;ZNF521,missense_variant,p.Cys286Phe,ENST00000538137,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,missense_variant,p.Cys286Phe,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	A	ENST00000361524	Transcript	missense_variant	1006/4871	857/3936	286/1311	C/F	tGc/tTc	COSM3724302	1		-1	ZNF521	HGNC	HGNC:24605	protein_coding	YES	CCDS32806.1	ENSP00000354794	Q96K83		UPI000006F982	NM_015461.2	tolerated(0.1)		4/8		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	10	25227061	25227061	C	A	1	0	0	0	0	1	0	0	0	18537	710	25	2		2	ZNF521	18	25227061	Missense_Mutation	SNP	C	C3L-00095_TP	14535800	25227061	55146224	705	4086											
CDH2	0	.	GRCh38	chr18	27952196	27952196	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagcaagtttcttgaacCgtggcccccagtcgttcagg	7	11	11	12	2	3	1	2	1	1	0	4	1	3	1	3	2	2	3	3	2	2	3	rs201294768		C3L-00095_TP	C3L-00095_NB	C	C																c.2678G>T	p.Arg893Leu	p.R893L	ENST00000269141	16/16	290	271	19	344	342	2	strelka-mutect	CDH2,missense_variant,p.Arg893Leu,ENST00000269141,NM_001792.3;CDH2,missense_variant,p.Arg862Leu,ENST00000399380,NM_001308176.1;AC015933.2,upstream_gene_variant,,ENST00000423367,;	A	ENST00000269141	Transcript	missense_variant	3102/4332	2678/2721	893/906	R/L	cGg/cTg	rs201294768,COSM385442	1		-1	CDH2	HGNC	HGNC:1759	protein_coding	YES	CCDS11891.1	ENSP00000269141	P19022	A0A024RC42	UPI000013D7FD	NM_001792.3	deleterious(0)		16/16		Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF79											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201294768	.												A	3	1	10	27952196	27952196	C	A	1	0	0	0	0	1	0	0	0	2808	652	23	1		1	CDH2	18	27952196	Missense_Mutation	SNP	C	C3L-00095_TP	2725135	27952196	52421089	706	4087											
DSG2	0	.	GRCh38	chr18	31538759	31538759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccttgtaggtaccagtGtgctgctgcaacaaagtgag	11	9	11	10	0	0	1	0	1	0	0	0	1	0	1	3	1	6	5	3	1	5	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1660G>T	p.Val554Leu	p.V554L	ENST00000261590	12/15	499	466	33	541	540	1	strelka-varscan-mutect	DSG2,missense_variant,p.Val554Leu,ENST00000261590,NM_001943.3;DSG2-AS1,downstream_gene_variant,,ENST00000583706,;	T	ENST00000261590	Transcript	missense_variant	1869/5831	1660/3357	554/1118	V/L	Gtg/Ttg		1		1	DSG2	HGNC	HGNC:3049	protein_coding	YES	CCDS42423.1	ENSP00000261590	Q14126		UPI0000048E38	NM_001943.3	deleterious(0.03)		12/15		Gene3D:2.60.40.60,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF1,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	31538759	31538759	G	T	1	0	0	0	0	1	0	0	0	4598	1377	48	2		2	DSG2	18	31538759	Missense_Mutation	SNP	G	C3L-00095_TP	3586563	31538759	48834526	707	4088											
ATP5A1	0	.	GRCh38	chr18	46088115	46088115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttcttttaatacctgcatCtgtaagtctcttcaccaact	10	17	3	11	0	4	0	1	0	3	0	5	0	4	0	2	0	3	2	2	0	4	6	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.793G>A	p.Asp265Asn	p.D265N	ENST00000398752	6/12	199	185	14	147	147	0	strelka-varscan-mutect	ATP5A1,missense_variant,p.Asp265Asn,ENST00000398752,NM_004046.5;ATP5A1,missense_variant,p.Asp215Asn,ENST00000593152,NM_001001935.2,NM_001257335.1;ATP5A1,missense_variant,p.Asp265Asn,ENST00000282050,NM_001001937.1;ATP5A1,missense_variant,p.Asp243Asn,ENST00000590665,NM_001257334.1;ATP5A1,missense_variant,p.Asp176Asn,ENST00000589252,;ATP5A1,downstream_gene_variant,,ENST00000589869,;ATP5A1,downstream_gene_variant,,ENST00000590324,;ATP5A1,downstream_gene_variant,,ENST00000590406,;ATP5A1,downstream_gene_variant,,ENST00000592989,;ATP5A1,3_prime_UTR_variant,,ENST00000586592,;ATP5A1,3_prime_UTR_variant,,ENST00000590156,;ATP5A1,non_coding_transcript_exon_variant,,ENST00000586523,;ATP5A1,intron_variant,,ENST00000592364,;ATP5A1,downstream_gene_variant,,ENST00000589611,;ATP5A1,downstream_gene_variant,,ENST00000590448,;ATP5A1,upstream_gene_variant,,ENST00000587902,;ATP5A1,downstream_gene_variant,,ENST00000591981,;ATP5A1,downstream_gene_variant,,ENST00000585650,;	T	ENST00000398752	Transcript	missense_variant	915/5818	793/1662	265/553	D/N	Gat/Aat		1		-1	ATP5A1	HGNC	HGNC:823	protein_coding	YES	CCDS11927.1	ENSP00000381736	P25705	V9HW26	UPI000006221A	NM_004046.5	deleterious_low_confidence(0.02)		6/12		HAMAP:MF_01346,hmmpanther:PTHR15184:SF3,hmmpanther:PTHR15184,TIGRFAM_domain:TIGR00962,PIRSF_domain:PIRSF039088,Pfam_domain:PF00006,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	46088115	46088115	C	T	1	0	0	0	0	1	0	0	0	1300	913	32	3		3	ATP5A1	18	46088115	Missense_Mutation	SNP	C	C3L-00095_TP	14549356	46088115	34285170	708	4089											
PIAS2	0	.	GRCh38	chr18	46812613	46812613	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaacataggaggacagtaCtgcttgaaacaaacaatgat	20	7	8	6	0	0	2	0	2	0	0	0	4	0	4	0	2	5	2	0	2	7	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1687-1G>T		p.X563_splice	ENST00000585916		120	110	10	162	162	0	strelka-varscan-mutect	PIAS2,splice_acceptor_variant,,ENST00000585916,NM_001324049.1,NM_001324048.1,NM_001324047.1,NM_004671.3;PIAS2,downstream_gene_variant,,ENST00000324794,NM_001324051.1,NM_001324054.1,NM_173206.3;PIAS2,splice_acceptor_variant,,ENST00000398654,;	A	ENST00000585916	Transcript	splice_acceptor_variant	-/11075	1687/1866	563/621				1		-1	PIAS2	HGNC	HGNC:17311	protein_coding	YES	CCDS32824.1	ENSP00000465676	O75928		UPI0000201CB9	NM_001324049.1,NM_001324048.1,NM_001324047.1,NM_004671.3				13/13																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	10	46812613	46812613	C	A	1	0	0	0	0	0	0	1	0	11966	579	20	2		2	PIAS2	18	46812613	Splice_Site	SNP	C	C3L-00095_TP	724498	46812613	33560672	709	4090											
TCEB3B	0	.	GRCh38	chr18	47034104	47034104	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcaactgatcgtaggtGaggtatttttcacatgacag	10	13	10	8	2	1	3	1	3	0	0	3	3	2	3	1	2	1	3	1	2	3	5	rs748442026		C3L-00095_TP	C3L-00095_NB	G	G																c.1161C>A	p.=	p.L387L	ENST00000332567	1/1	273	253	20	347	346	1	strelka-varscan-mutect	TCEB3B,synonymous_variant,p.=,ENST00000332567,NM_016427.2;KATNAL2,intron_variant,,ENST00000245121,NM_031303.2;TCEB3B,intron_variant,,ENST00000620522,;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3C,upstream_gene_variant,,ENST00000330682,NM_145653.3;	T	ENST00000332567	Transcript	synonymous_variant	1518/3050	1161/2262	387/753	L	ctC/ctA	rs748442026	1		-1	TCEB3B	HGNC	HGNC:30771	protein_coding	YES	CCDS11932.1	ENSP00000331302	Q8IYF1		UPI0000140A82	NM_016427.2			1/1		hmmpanther:PTHR15141:SF7,hmmpanther:PTHR15141																	LOW		SNV				1										PASS		rs748442026	.												T	2	4	10	47034104	47034104	G	T	1	0	0	0	0	0	0	0	1	16089	1277	45	2		2	TCEB3B	18	47034104	Silent	SNP	G	C3L-00095_TP	221491	47034104	33339181	710	4091											
LIPG	0	.	GRCh38	chr18	49569535	49569535	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttcgtgaaaggaacggtGggccgaatcacaggtgagct	12	7	14	8	3	1	2	1	2	0	0	2	4	1	3	1	4	3	1	1	4	4	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.558G>A	p.=	p.V186V	ENST00000261292	4/10	426	401	25	523	522	1	strelka-varscan-mutect	LIPG,synonymous_variant,p.=,ENST00000261292,NM_006033.2;LIPG,synonymous_variant,p.=,ENST00000577628,;LIPG,synonymous_variant,p.=,ENST00000427224,NM_001308006.1;LIPG,synonymous_variant,p.=,ENST00000580036,;LIPG,downstream_gene_variant,,ENST00000583083,;LIPG,downstream_gene_variant,,ENST00000579750,;	A	ENST00000261292	Transcript	synonymous_variant	836/10441	558/1503	186/500	V	gtG/gtA		1		1	LIPG	HGNC	HGNC:6623	protein_coding	YES	CCDS11938.1	ENSP00000261292	Q9Y5X9	A0A024R2B5	UPI000012E706	NM_006033.2			4/10		hmmpanther:PTHR11610:SF13,hmmpanther:PTHR11610,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474,Prints_domain:PR00822																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	49569535	49569535	G	A	1	0	0	0	0	0	0	0	1	8744	1335	47	3		3	LIPG	18	49569535	Silent	SNP	G	C3L-00095_TP	2535431	49569535	30803750	711	4092											
ACAA2	0	.	GRCh38	chr18	49787293	49787293	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaaaaaaaacacttacctCtaccaaatccatgtccttaa	20	9	1	11	0	1	0	0	0	1	0	3	0	3	0	4	0	3	0	4	0	9	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.952G>C	p.Glu318Gln	p.E318Q	ENST00000285093	8/10	96	89	7	115	115	0	varscan-mutect	ACAA2,missense_variant,p.Glu318Gln,ENST00000285093,NM_006111.2;ACAA2,missense_variant,p.Glu263Gln,ENST00000589432,;ACAA2,missense_variant,p.Glu315Gln,ENST00000587994,;ACAA2,upstream_gene_variant,,ENST00000591171,;	G	ENST00000285093	Transcript	missense_variant,splice_region_variant	1428/3350	952/1194	318/397	E/Q	Gag/Cag		1		-1	ACAA2	HGNC	HGNC:83	protein_coding	YES	CCDS11939.1	ENSP00000285093	P42765		UPI000006FECE	NM_006111.2	deleterious(0)		8/10		hmmpanther:PTHR18919,hmmpanther:PTHR18919:SF107,TIGRFAM_domain:TIGR01930,Gene3D:3.40.47.10,Pfam_domain:PF02803,PIRSF_domain:PIRSF000429,Superfamily_domains:SSF53901																	MODERATE	1	SNV	1			1										PASS		rs1358976747	.												G	3	3	10	49787293	49787293	C	G	1	0	0	0	0	1	0	0	0	148	927	32	4		4	ACAA2	18	49787293	Missense_Mutation	SNP	C	C3L-00095_TP	217758	49787293	30585992	712	4093											
MYO5B	0	.	GRCh38	chr18	49953328	49953328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttctccagaaaaccatCagagaggtactccacctggg	11	10	9	11	0	2	2	1	0	1	2	4	3	3	2	4	2	2	2	4	2	3	3			C3L-00095_TP	C3L-00095_NB	C	C																c.1684G>T	p.Asp562Tyr	p.D562Y	ENST00000285039	14/40	452	416	36	581	580	1	strelka-varscan-mutect	MYO5B,missense_variant,p.Asp562Tyr,ENST00000285039,NM_001080467.2;	A	ENST00000285039	Transcript	missense_variant	1984/9505	1684/5547	562/1848	D/Y	Gat/Tat	COSM5430355	1		-1	MYO5B	HGNC	HGNC:7603	protein_coding	YES	CCDS42436.1	ENSP00000285039	Q9ULV0		UPI00001D7B21	NM_001080467.2	deleterious(0)		14/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356,SMART_domains:SM00242,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	10	49953328	49953328	C	A	1	0	0	0	0	1	0	0	0	10080	826	29	2		2	MYO5B	18	49953328	Missense_Mutation	SNP	C	C3L-00095_TP	166035	49953328	30419957	713	4094											
MBD1	0	.	GRCh38	chr18	50279920	50279920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgtccacaggtggcccCtgacttgcgaaagacttcgc	8	8	12	13	3	0	3	0	2	0	1	2	4	1	3	3	2	2	0	3	2	1	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.73G>T	p.Gly25Trp	p.G25W	ENST00000590208	2/16	273	248	25	388	388	0	strelka-varscan-mutect	MBD1,missense_variant,p.Gly25Trp,ENST00000591416,;MBD1,missense_variant,p.Gly25Trp,ENST00000269468,NM_015846.3;MBD1,missense_variant,p.Gly25Trp,ENST00000347968,NM_015844.2;MBD1,missense_variant,p.Gly25Trp,ENST00000269471,NM_015845.3;MBD1,missense_variant,p.Gly25Trp,ENST00000339998,NM_001204142.1;MBD1,missense_variant,p.Gly25Trp,ENST00000590208,NM_001204136.1;MBD1,missense_variant,p.Gly25Trp,ENST00000353909,NM_015847.3;MBD1,missense_variant,p.Gly25Trp,ENST00000585672,NM_001204141.1;MBD1,missense_variant,p.Gly25Trp,ENST00000457839,NM_001204137.1,NM_001204138.1;MBD1,missense_variant,p.Gly25Trp,ENST00000382948,NM_001204139.1;MBD1,missense_variant,p.Gly25Trp,ENST00000585595,;MBD1,missense_variant,p.Gly25Trp,ENST00000398495,NM_001204140.1;MBD1,missense_variant,p.Gly25Trp,ENST00000587605,NM_001204143.1;MBD1,missense_variant,p.Gly25Trp,ENST00000398493,;MBD1,missense_variant,p.Gly25Trp,ENST00000588937,;MBD1,missense_variant,p.Gly25Trp,ENST00000591535,NM_001204151.1;MBD1,missense_variant,p.Gly25Trp,ENST00000398488,NM_002384.2;CXXC1,downstream_gene_variant,,ENST00000285106,NM_014593.3;CXXC1,downstream_gene_variant,,ENST00000412036,NM_001101654.1;CXXC1,downstream_gene_variant,,ENST00000589940,;MBD1,upstream_gene_variant,,ENST00000592060,;CXXC1,downstream_gene_variant,,ENST00000591474,;MBD1,upstream_gene_variant,,ENST00000589541,;MBD1,upstream_gene_variant,,ENST00000589733,;MBD1,missense_variant,p.Gly25Trp,ENST00000590215,;MBD1,non_coding_transcript_exon_variant,,ENST00000586118,;MBD1,non_coding_transcript_exon_variant,,ENST00000589867,;MBD1,non_coding_transcript_exon_variant,,ENST00000589758,;CXXC1,downstream_gene_variant,,ENST00000590901,;CXXC1,downstream_gene_variant,,ENST00000591190,;CXXC1,downstream_gene_variant,,ENST00000586568,;CXXC1,downstream_gene_variant,,ENST00000587342,;CXXC1,downstream_gene_variant,,ENST00000590234,;CXXC1,downstream_gene_variant,,ENST00000592078,;CXXC1,downstream_gene_variant,,ENST00000586502,;MBD1,upstream_gene_variant,,ENST00000586679,;MBD1,upstream_gene_variant,,ENST00000591661,;CXXC1,downstream_gene_variant,,ENST00000587170,;CXXC1,downstream_gene_variant,,ENST00000586144,;	A	ENST00000590208	Transcript	missense_variant	420/2913	73/1968	25/655	G/W	Ggg/Tgg		1		-1	MBD1	HGNC	HGNC:6916	protein_coding	YES	CCDS59320.1	ENSP00000468785	Q9UIS9		UPI0001F995B6	NM_001204136.1	deleterious(0)		2/16		Gene3D:3.30.890.10,Pfam_domain:PF01429,PROSITE_profiles:PS50982,hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF8,SMART_domains:SM00391,Superfamily_domains:SSF54171																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	50279920	50279920	C	A	1	0	0	0	0	1	0	0	0	9271	681	24	2		2	MBD1	18	50279920	Missense_Mutation	SNP	C	C3L-00095_TP	326592	50279920	30093365	714	4095											
CCDC68	0	.	GRCh38	chr18	54942787	54942787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtcactgtcactgttGtcattgtgaattctggcttt	5	18	10	8	0	4	1	3	1	1	0	4	1	4	1	0	2	0	2	0	2	1	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.5C>T	p.Thr2Ile	p.T2I	ENST00000591504	3/12	253	236	17	211	211	0	strelka-varscan-mutect	CCDC68,missense_variant,p.Thr2Ile,ENST00000591504,NM_025214.2;CCDC68,missense_variant,p.Thr2Ile,ENST00000432185,;CCDC68,missense_variant,p.Thr2Ile,ENST00000337363,NM_001143829.1;CCDC68,non_coding_transcript_exon_variant,,ENST00000587148,;	A	ENST00000591504	Transcript	missense_variant	280/4132	5/1008	2/335	T/I	aCa/aTa		1		-1	CCDC68	HGNC	HGNC:24350	protein_coding	YES	CCDS11959.1	ENSP00000466690	Q9H2F9	A0A024R2B9	UPI00000435F1	NM_025214.2	deleterious(0)		3/12		hmmpanther:PTHR23171,hmmpanther:PTHR23171:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	54942787	54942787	G	A	1	0	0	0	0	1	0	0	0	2540	1377	48	3		3	CCDC68	18	54942787	Missense_Mutation	SNP	G	C3L-00095_TP	4662867	54942787	25430498	715	4096											
ZNF532	0	.	GRCh38	chr18	58920224	58920224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcgcatcgaagtaacgtGcaaccattgtacaaagaacc	14	7	9	11	4	0	1	0	0	0	1	1	2	0	1	2	0	6	4	2	0	6	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1937G>T	p.Cys646Phe	p.C646F	ENST00000336078	4/11	113	105	8	156	156	0	strelka-varscan-mutect	ZNF532,missense_variant,p.Cys646Phe,ENST00000336078,NM_001318726.1,NM_001318727.1,NM_001318728.1,NM_018181.4;ZNF532,missense_variant,p.Cys646Phe,ENST00000589288,;ZNF532,missense_variant,p.Cys646Phe,ENST00000591083,;ZNF532,missense_variant,p.Cys646Phe,ENST00000591808,;ZNF532,missense_variant,p.Cys646Phe,ENST00000591230,;ZNF532,downstream_gene_variant,,ENST00000588601,;ZNF532,downstream_gene_variant,,ENST00000589481,;ZNF532,downstream_gene_variant,,ENST00000592452,;ZNF532,downstream_gene_variant,,ENST00000591049,;ZNF532,downstream_gene_variant,,ENST00000588456,;ZNF532,downstream_gene_variant,,ENST00000590285,;ZNF532,downstream_gene_variant,,ENST00000590287,;ZNF532,downstream_gene_variant,,ENST00000587755,;ZNF532,downstream_gene_variant,,ENST00000586085,;ZNF532,downstream_gene_variant,,ENST00000588543,;ZNF532,upstream_gene_variant,,ENST00000586997,;ZNF532,upstream_gene_variant,,ENST00000590157,;ZNF532,upstream_gene_variant,,ENST00000589156,;	T	ENST00000336078	Transcript	missense_variant	2713/6696	1937/3906	646/1301	C/F	tGc/tTc		1		1	ZNF532	HGNC	HGNC:30940	protein_coding	YES	CCDS11969.1	ENSP00000338217	Q9HCE3	A0A024R283	UPI000013D30C	NM_001318726.1,NM_001318727.1,NM_001318728.1,NM_018181.4	deleterious(0)		4/11		hmmpanther:PTHR26374,hmmpanther:PTHR26374:SF204,SMART_domains:SM00355																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	58920224	58920224	G	T	1	0	0	0	0	1	0	0	0	18545	1319	46	2		2	ZNF532	18	58920224	Missense_Mutation	SNP	G	C3L-00095_TP	3977437	58920224	21453061	716	4097											
CDH20	0	.	GRCh38	chr18	61490690	61490690	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggtgaattagaagcacTcctgtcagacaagccacagt	15	7	9	10	0	1	3	1	1	0	2	2	3	2	3	2	1	2	1	2	1	5	1	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.137T>A	p.Leu46His	p.L46H	ENST00000262717	2/12	432	387	45	548	548	0	strelka-varscan-mutect	CDH20,missense_variant,p.Leu46His,ENST00000262717,;CDH20,missense_variant,p.Leu46His,ENST00000536675,NM_031891.2;CDH20,missense_variant,p.Leu46His,ENST00000538374,;	A	ENST00000262717	Transcript	missense_variant	535/3882	137/2406	46/801	L/H	cTc/cAc		1		1	CDH20	HGNC	HGNC:1760	protein_coding	YES	CCDS11977.1	ENSP00000262717	Q9HBT6		UPI000013D30D		tolerated(0.45)		2/12		hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	10	61490690	61490690	T	A	1	0	0	0	0	1	0	0	0	2809	1551	54	4		4	CDH20	18	61490690	Missense_Mutation	SNP	T	C3L-00095_TP	2570466	61490690	18882595	717	4098											
CDH20	0	.	GRCh38	chr18	61554583	61554583	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctgagctccctgcagtCggccacgtcggactcggaac	6	7	13	15	5	0	1	0	1	0	0	5	3	1	3	2	3	3	3	2	3	1	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2294C>A	p.Ser765Ter	p.S765*	ENST00000262717	12/12	223	209	14	300	300	0	strelka-varscan-mutect	CDH20,stop_gained,p.Ser765Ter,ENST00000262717,;CDH20,stop_gained,p.Ser765Ter,ENST00000536675,NM_031891.2;CDH20,stop_gained,p.Ser765Ter,ENST00000538374,;CDH20,downstream_gene_variant,,ENST00000587582,;	A	ENST00000262717	Transcript	stop_gained	2692/3882	2294/2406	765/801	S/*	tCg/tAg		1		1	CDH20	HGNC	HGNC:1760	protein_coding	YES	CCDS11977.1	ENSP00000262717	Q9HBT6		UPI000013D30D				12/12		Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027,Pfam_domain:PF01049,Gene3D:4.10.900.10																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	10	61554583	61554583	C	A	1	0	0	0	0	0	1	0	0	2809	893	31	1		1	CDH20	18	61554583	Nonsense_Mutation	SNP	C	C3L-00095_TP	63893	61554583	18818702	718	4099											
CDH7	0	.	GRCh38	chr18	65880701	65880701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaagccgatgttgatcCtggtgctcctccttatgact	10	12	9	10	1	0	3	0	2	0	1	3	4	3	3	4	1	2	2	4	1	4	2	rs773946370		C3L-00095_TP	C3L-00095_NB	C	C																c.2165C>A	p.Pro722His	p.P722H	ENST00000397968	12/12	426	388	38	496	493	3	strelka-varscan-mutect	CDH7,missense_variant,p.Pro722His,ENST00000397968,NM_004361.2;CDH7,missense_variant,p.Pro722His,ENST00000323011,NM_033646.1;	A	ENST00000397968	Transcript	missense_variant	2591/12231	2165/2358	722/785	P/H	cCt/cAt	rs773946370	1		1	CDH7	HGNC	HGNC:1766	protein_coding	YES	CCDS11993.1	ENSP00000381058	Q9ULB5		UPI000013D269	NM_004361.2	deleterious(0.03)		12/12		Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91																	MODERATE	1	SNV	1			1										PASS		rs773946370	.												A	3	1	10	65880701	65880701	C	A	1	0	0	0	0	1	0	0	0	2818	681	24	2		2	CDH7	18	65880701	Missense_Mutation	SNP	C	C3L-00095_TP	4326118	65880701	14492584	719	4100											
CCDC102B	0	.	GRCh38	chr18	68836805	68836805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgattaattgaggaaacacaGatcttccagatgcaacaatc	16	9	7	9	1	1	3	0	1	1	2	3	5	2	4	1	1	3	1	1	1	4	3	rs745397622		C3L-00095_TP	C3L-00095_NB	G	G																c.42G>T	p.Gln14His	p.Q14H	ENST00000360242	2/8	157	148	9	240	239	1	strelka-varscan-mutect	CCDC102B,missense_variant,p.Gln14His,ENST00000360242,NM_001093729.1,NM_024781.2;CCDC102B,missense_variant,p.Gln14His,ENST00000584156,;CCDC102B,missense_variant,p.Gln14His,ENST00000584775,;CCDC102B,missense_variant,p.Gln14His,ENST00000582371,;CCDC102B,missense_variant,p.Gln14His,ENST00000578970,;CCDC102B,missense_variant,p.Gln14His,ENST00000581520,;CCDC102B,upstream_gene_variant,,ENST00000358653,;CCDC102B,non_coding_transcript_exon_variant,,ENST00000577772,;	T	ENST00000360242	Transcript	missense_variant	159/2711	42/1542	14/513	Q/H	caG/caT	rs745397622	1		1	CCDC102B	HGNC	HGNC:26295	protein_coding	YES	CCDS11996.2	ENSP00000353377	Q68D86		UPI0000201E87	NM_001093729.1,NM_024781.2	tolerated(0.1)		2/8																			MODERATE	1	SNV	1			1										PASS		rs745397622	.												T	3	4	10	68836805	68836805	G	T	1	0	0	0	0	1	0	0	0	2435	933	33	2		2	CCDC102B	18	68836805	Missense_Mutation	SNP	G	C3L-00095_TP	2956104	68836805	11536480	720	4101											
DOK6	0	.	GRCh38	chr18	69677815	69677815	+	Missense_Mutation	SNP	C	C	G																															tgatatcagccttggggagcCcgaccttctggccgcaggag																								novel		C3L-00095_TP	C3L-00095_NB	C	C																c.371C>G	p.Pro124Arg	p.P124R	ENST00000382713	4/8	269	255	14	357	357	0	strelka-varscan	DOK6,missense_variant,p.Pro124Arg,ENST00000382713,NM_152721.5;DOK6,missense_variant,p.Pro28Arg,ENST00000582992,;DOK6,non_coding_transcript_exon_variant,,ENST00000584435,;DOK6,non_coding_transcript_exon_variant,,ENST00000582172,;	G	ENST00000382713	Transcript	missense_variant	561/8890	371/996	124/331	P/R	cCc/cGc		1		1	DOK6	HGNC	HGNC:28301	protein_coding	YES	CCDS32841.1	ENSP00000372160	Q6PKX4		UPI000035EC7C	NM_152721.5	deleterious(0)		4/8		hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF43																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	69677815	69677815	C	G	1	0	0	0	0	1	0	0	0	4516	623	22	4		4	DOK6	18	69677815	Missense_Mutation	SNP	C	C3L-00095_TP	841010	69677815	10695470	721	4102	92	2									
DOK6	0	.	GRCh38	chr18	69677816	69677816	+	Silent	SNP	C	C	A																															gatatcagccttggggagccCgaccttctggccgcaggagt																								rs368721580		C3L-00095_TP	C3L-00095_NB	C	C																c.372C>A	p.=	p.P124P	ENST00000382713	4/8	268	254	14	358	357	1	strelka-varscan	DOK6,synonymous_variant,p.=,ENST00000382713,NM_152721.5;DOK6,synonymous_variant,p.=,ENST00000582992,;DOK6,non_coding_transcript_exon_variant,,ENST00000584435,;DOK6,non_coding_transcript_exon_variant,,ENST00000582172,;	A	ENST00000382713	Transcript	synonymous_variant	562/8890	372/996	124/331	P	ccC/ccA	rs368721580	1		1	DOK6	HGNC	HGNC:28301	protein_coding	YES	CCDS32841.1	ENSP00000372160	Q6PKX4		UPI000035EC7C	NM_152721.5			4/8		hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF43																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	69677816	69677816	C	A	1	0	0	0	0	0	0	0	1	4516	639	23	1		1	DOK6	18	69677816	Silent	SNP	C	C3L-00095_TP	1	69677816	10695469	722	4103	92	2									
ODF3L2	0	.	GRCh38	chr19	472416	472416	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcactgggcctccggacgagCgagtaggcgggactggccac	7	5	16	13	4	1	0	1	0	0	0	2	4	2	2	3	5	1	1	3	5	1	1	rs563807265		C3L-00095_TP	C3L-00095_NB	C	C																c.213G>T	p.=	p.S71S	ENST00000315489	2/4	83	74	9	121	121	0	strelka-varscan-mutect	ODF3L2,synonymous_variant,p.=,ENST00000315489,NM_182577.2;ODF3L2,intron_variant,,ENST00000382696,;ODF3L2,non_coding_transcript_exon_variant,,ENST00000591681,;	A	ENST00000315489	Transcript	synonymous_variant	449/1604	213/870	71/289	S	tcG/tcT	rs563807265	1		-1	ODF3L2	HGNC	HGNC:26841	protein_coding	YES	CCDS12027.1	ENSP00000318029	Q3SX64		UPI0000072898	NM_182577.2			2/4		hmmpanther:PTHR21580,hmmpanther:PTHR21580:SF0																	LOW	1	SNV	1			1										PASS		rs563807265	.												A	2	1	10	472416	472416	C	A	1	0	0	0	0	0	0	0	1	10910	755	27	1		1	ODF3L2	19	472416	Silent	SNP	C	C3L-00095_TP		472416	58145200	723	4104											
ELANE	0	.	GRCh38	chr19	852899	852899	+	Frame_Shift_Del	DEL	G	G	-																															ccgcgctggcctcggagattGtggggggccggcgagcgcgg																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.91delG	p.Val31TrpfsTer29	p.V31Wfs*29	ENST00000590230	3/6	121	110	11	197	197	0	sindel-varindel	ELANE,frameshift_variant,p.Val31TrpfsTer29,ENST00000590230,;ELANE,frameshift_variant,p.Val31TrpfsTer29,ENST00000263621,NM_001972.2;PRTN3,downstream_gene_variant,,ENST00000544537,;PRTN3,downstream_gene_variant,,ENST00000234347,NM_002777.3;	-	ENST00000590230	Transcript	frameshift_variant	232/1028	91/804	31/267	V/X	Gtg/tg		1		1	ELANE	HGNC	HGNC:3309	protein_coding	YES	CCDS12045.1	ENSP00000466090	P08246		UPI0000129E6B				3/6		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF16,SMART_domains:SM00020,Superfamily_domains:SSF50494																	HIGH		deletion	5			1										PASS		.	.												-	7	5	10	852899	852899	G	-	1	0	1	0	1	0	0	0	0	4881	1377	48	0		0	ELANE	19	852899	Frame_Shift_Del	DEL	G	C3L-00095_TP	380483	852899	57764717	724	4105	93	2									
ELANE	0	.	GRCh38	chr19	852901	852901	+	Silent	SNP	G	G	T																															gcgctggcctcggagattgtGgggggccggcgagcgcggcc																										C3L-00095_TP	C3L-00095_NB	G	G																c.93G>T	p.=	p.V31V	ENST00000590230	3/6	137	126	11	206	206	0	strelka-mutect	ELANE,synonymous_variant,p.=,ENST00000590230,;ELANE,synonymous_variant,p.=,ENST00000263621,NM_001972.2;PRTN3,downstream_gene_variant,,ENST00000544537,;PRTN3,downstream_gene_variant,,ENST00000234347,NM_002777.3;	T	ENST00000590230	Transcript	synonymous_variant	234/1028	93/804	31/267	V	gtG/gtT	COSM1494549,COSM4680697	1		1	ELANE	HGNC	HGNC:3309	protein_coding	YES	CCDS12045.1	ENSP00000466090	P08246		UPI0000129E6B				3/6		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF16,SMART_domains:SM00020,Superfamily_domains:SSF50494											1,1						LOW		SNV	5		1,1	1										PASS		rs894935356	.												T	2	4	10	852901	852901	G	T	1	0	0	0	0	0	0	0	1	4881	1335	47	2		2	ELANE	19	852901	Silent	SNP	G	C3L-00095_TP	2	852901	57764715	725	4106	93	2									
STK11	0	.	GRCh38	chr19	1222987	1222987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgggcgtttgcagctGgttccggaagaaacatcctc	7	11	12	11	2	1	1	0	0	1	1	4	2	3	2	2	3	3	5	2	3	2	3	rs864622488		C3L-00095_TP	C3L-00095_NB	G	G																c.923G>T	p.Trp308Leu	p.W308L	ENST00000326873	8/10	51	46	5	64	64	0	strelka-varscan-mutect	STK11,missense_variant,p.Trp308Leu,ENST00000586243,;STK11,missense_variant,p.Trp308Leu,ENST00000326873,NM_000455.4;STK11,upstream_gene_variant,,ENST00000585465,;STK11,downstream_gene_variant,,ENST00000585748,;STK11,downstream_gene_variant,,ENST00000585851,;STK11,splice_region_variant,,ENST00000589152,;STK11,splice_region_variant,,ENST00000591133,;STK11,downstream_gene_variant,,ENST00000586358,;STK11,downstream_gene_variant,,ENST00000593219,;	T	ENST00000326873	Transcript	missense_variant,splice_region_variant	1373/2611	923/1302	308/433	W/L	tGg/tTg	rs864622488,CM991159,KinMutBase_STK11_DNA:g.17074G>A,COSM26041	1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4	deleterious(0)		8/10		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112										likely_pathogenic	0,0,0,1						MODERATE	1	SNV	1		1,1,0,1	1										PASS		rs864622488	.												T	3	4	10	1222987	1222987	G	T	1	0	0	0	0	1	0	0	0	15664	1362	47	2		2	STK11	19	1222987	Missense_Mutation	SNP	G	C3L-00095_TP	370086	1222987	57394629	726	4107											
SF3A2	0	.	GRCh38	chr19	2247870	2247870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccacccccgctgatgaacgGtctgccccctcggccaccgc	5	6	9	21	4	1	2	0	2	1	0	3	2	2	2	7	2	2	1	7	2	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.719G>T	p.Gly240Val	p.G240V	ENST00000221494	9/9	143	125	18	242	242	0	strelka-varscan-mutect	SF3A2,missense_variant,p.Gly240Val,ENST00000221494,NM_007165.4;AMH,upstream_gene_variant,,ENST00000221496,NM_000479.3;JSRP1,downstream_gene_variant,,ENST00000300961,NM_144616.3;SF3A2,downstream_gene_variant,,ENST00000586396,;AMH,upstream_gene_variant,,ENST00000592276,;AMH,upstream_gene_variant,,ENST00000592877,;SF3A2,non_coding_transcript_exon_variant,,ENST00000592314,;AMH,upstream_gene_variant,,ENST00000589313,;SF3A2,downstream_gene_variant,,ENST00000589118,;SF3A2,downstream_gene_variant,,ENST00000592839,;SF3A2,downstream_gene_variant,,ENST00000590034,;SF3A2,downstream_gene_variant,,ENST00000587637,;	T	ENST00000221494	Transcript	missense_variant	1154/1963	719/1395	240/464	G/V	gGt/gTt		1		1	SF3A2	HGNC	HGNC:10766	protein_coding	YES	CCDS12084.1	ENSP00000221494	Q15428		UPI0000135468	NM_007165.4	deleterious_low_confidence(0.01)		9/9		Low_complexity_(Seg):seg,hmmpanther:PTHR23205,hmmpanther:PTHR23205:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	2247870	2247870	G	T	1	0	0	0	0	1	0	0	0	14426	1261	44	2		2	SF3A2	19	2247870	Missense_Mutation	SNP	G	C3L-00095_TP	1024883	2247870	56369746	727	4108											
AMH	0	.	GRCh38	chr19	2250345	2250345	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccggctgcagtgacctggGagccaacaccctcgctgagg	7	6	13	15	2	0	2	0	2	0	0	2	3	1	3	4	3	3	3	4	3	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.421G>T	p.Glu141Ter	p.E141*	ENST00000221496	2/5	418	389	29	559	558	1	strelka-varscan-mutect	AMH,stop_gained,p.Glu141Ter,ENST00000221496,NM_000479.3;SF3A2,downstream_gene_variant,,ENST00000221494,NM_007165.4;JSRP1,downstream_gene_variant,,ENST00000300961,NM_144616.3;JSRP1,downstream_gene_variant,,ENST00000593238,;SF3A2,downstream_gene_variant,,ENST00000586396,;AMH,upstream_gene_variant,,ENST00000592276,;AMH,intron_variant,,ENST00000592877,;AMH,non_coding_transcript_exon_variant,,ENST00000589313,;SF3A2,downstream_gene_variant,,ENST00000592314,;SF3A2,downstream_gene_variant,,ENST00000592839,;SF3A2,downstream_gene_variant,,ENST00000587637,;	T	ENST00000221496	Transcript	stop_gained	443/1821	421/1683	141/560	E/*	Gag/Tag		1		1	AMH	HGNC	HGNC:464	protein_coding	YES	CCDS12085.1	ENSP00000221496	P03971		UPI000013C7D0	NM_000479.3			2/5		hmmpanther:PTHR15009,Pfam_domain:PF04709,PIRSF_domain:PIRSF037270																	HIGH	1	SNV	1			1										PASS		rs1276693838	.												T	4	4	10	2250345	2250345	G	T	1	0	0	0	0	0	1	0	0	671	1175	41	2		2	AMH	19	2250345	Nonsense_Mutation	SNP	G	C3L-00095_TP	2475	2250345	56367271	728	4109											
TMPRSS9	0	.	GRCh38	chr19	2425975	2425975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggagccctctggacggtggGtgctaactggggtcactagc	6	8	17	10	1	2	0	1	0	1	0	2	2	2	2	1	6	4	1	1	6	2	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.3067G>T	p.Val1023Leu	p.V1023L	ENST00000332578	17/17	105	93	12	174	174	0	strelka-varscan-mutect	TMPRSS9,missense_variant,p.Val1023Leu,ENST00000332578,NM_182973.1;TIMM13,3_prime_UTR_variant,,ENST00000215570,NM_012458.3;LMNB2,downstream_gene_variant,,ENST00000325327,NM_032737.3;TMPRSS9,downstream_gene_variant,,ENST00000613480,;TIMM13,downstream_gene_variant,,ENST00000591871,;LMNB2,downstream_gene_variant,,ENST00000475819,;LMNB2,downstream_gene_variant,,ENST00000532465,;	T	ENST00000332578	Transcript	missense_variant	3067/3331	3067/3180	1023/1059	V/L	Gtg/Ttg		1		1	TMPRSS9	HGNC	HGNC:30079	protein_coding	YES	CCDS12088.1	ENSP00000330264	Q7Z410		UPI00001B4EC6	NM_182973.1	deleterious(0.04)		17/17		PROSITE_profiles:PS50240,PIRSF_domain:PIRSF037931,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs1005208420	.												T	3	4	10	2425975	2425975	G	T	1	0	0	0	0	1	0	0	0	16729	1261	44	2		2	TMPRSS9	19	2425975	Missense_Mutation	SNP	G	C3L-00095_TP	175630	2425975	56191641	729	4110											
THOP1	0	.	GRCh38	chr19	2806971	2806971	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcccagaagtcccgcCtgctggggttccacacgcac	6	6	13	16	3	0	1	0	0	0	1	2	1	2	1	4	3	2	3	4	3	1	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.805C>T	p.=	p.L269L	ENST00000307741	7/13	148	139	9	266	265	1	strelka-varscan-mutect	THOP1,synonymous_variant,p.=,ENST00000307741,NM_003249.3;THOP1,synonymous_variant,p.=,ENST00000586677,;THOP1,upstream_gene_variant,,ENST00000395212,;THOP1,upstream_gene_variant,,ENST00000590970,;THOP1,upstream_gene_variant,,ENST00000587401,;THOP1,upstream_gene_variant,,ENST00000587468,;THOP1,upstream_gene_variant,,ENST00000591363,;THOP1,upstream_gene_variant,,ENST00000591149,;THOP1,downstream_gene_variant,,ENST00000585673,;THOP1,upstream_gene_variant,,ENST00000592639,;THOP1,non_coding_transcript_exon_variant,,ENST00000589087,;THOP1,upstream_gene_variant,,ENST00000590533,;	T	ENST00000307741	Transcript	synonymous_variant	1008/4804	805/2070	269/689	L	Ctg/Ttg		1		1	THOP1	HGNC	HGNC:11793	protein_coding	YES	CCDS12095.1	ENSP00000304467	P52888		UPI0000000C3E	NM_003249.3			7/13		Gene3D:2o36A02,Pfam_domain:PF01432,hmmpanther:PTHR11804,hmmpanther:PTHR11804:SF50,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	2806971	2806971	C	T	1	0	0	0	0	0	0	0	1	16305	680	24	3		3	THOP1	19	2806971	Silent	SNP	C	C3L-00095_TP	380996	2806971	55810645	730	4111											
CELF5	0	.	GRCh38	chr19	3224895	3224895	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaactcttcgtgggccagatCccgcggcacctggacgagaa	10	6	12	13	4	1	2	0	0	1	2	3	4	2	3	3	3	1	1	3	3	2	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.156C>A	p.=	p.I52I	ENST00000292672	1/13	264	243	21	327	325	2	strelka-varscan-mutect	CELF5,synonymous_variant,p.=,ENST00000541430,NM_001172673.1;CELF5,synonymous_variant,p.=,ENST00000292672,NM_021938.3;CELF5,upstream_gene_variant,,ENST00000334293,;	A	ENST00000292672	Transcript	synonymous_variant	193/1854	156/1458	52/485	I	atC/atA		1		1	CELF5	HGNC	HGNC:14058	protein_coding	YES	CCDS12106.1	ENSP00000292672	Q8N6W0		UPI00000705EC	NM_021938.3			1/13		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF444,SMART_domains:SM00360,Superfamily_domains:SSF54928																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	3224895	3224895	C	A	1	0	0	0	0	0	0	0	1	2926	845	30	2		2	CELF5	19	3224895	Silent	SNP	C	C3L-00095_TP	417924	3224895	55392721	731	4112											
SEMA6B	0	.	GRCh38	chr19	4556040	4556040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaccgcacacaaagagcGtggactcgtcccgaaggagc	12	4	13	12	4	0	1	0	0	0	1	2	5	1	4	2	3	3	1	2	3	3	0	rs770360894		C3L-00095_TP	C3L-00095_NB	G	G																c.419C>A	p.Thr140Lys	p.T140K	ENST00000586582	6/17	172	159	13	243	243	0	strelka-varscan-mutect	SEMA6B,missense_variant,p.Thr140Lys,ENST00000586582,NM_032108.3;SEMA6B,missense_variant,p.Thr140Lys,ENST00000586965,;	T	ENST00000586582	Transcript	missense_variant	730/3986	419/2667	140/888	T/K	aCg/aAg	rs770360894,COSM5446732	1		-1	SEMA6B	HGNC	HGNC:10739	protein_coding	YES	CCDS12131.1	ENSP00000467290	Q9H3T3		UPI000004BA6B	NM_032108.3	deleterious(0.04)		6/17		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF10,SMART_domains:SM00630,Superfamily_domains:SSF101912											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs770360894	.												T	3	4	10	4556040	4556040	G	T	1	0	0	0	0	1	0	0	0	14316	1145	40	1		1	SEMA6B	19	4556040	Missense_Mutation	SNP	G	C3L-00095_TP	1331145	4556040	54061576	732	4113											
ACSBG2	0	.	GRCh38	chr19	6147515	6147515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctatccaaacacggaccagGccatgagaccccgatgacca	13	4	9	15	2	0	2	0	2	0	1	1	5	1	3	6	2	1	1	6	2	2	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.137G>A	p.Gly46Asp	p.G46D	ENST00000586696	3/15	489	445	44	568	568	0	strelka-varscan-mutect	ACSBG2,missense_variant,p.Gly46Asp,ENST00000586696,NM_001289177.1,NM_001289179.1,NM_030924.4;ACSBG2,missense_variant,p.Gly46Asp,ENST00000591403,NM_001289178.1;ACSBG2,missense_variant,p.Gly46Asp,ENST00000591738,;ACSBG2,missense_variant,p.Gly46Asp,ENST00000589401,;ACSBG2,missense_variant,p.Gly46Asp,ENST00000588722,;ACSBG2,5_prime_UTR_variant,,ENST00000588304,NM_001321384.1;ACSBG2,5_prime_UTR_variant,,ENST00000588485,NM_001289180.1;RFX2,intron_variant,,ENST00000592883,;ACSBG2,missense_variant,p.Gly46Asp,ENST00000592677,;ACSBG2,missense_variant,p.Gly46Asp,ENST00000587617,;	A	ENST00000586696	Transcript	missense_variant	413/2739	137/2001	46/666	G/D	gGc/gAc		1		1	ACSBG2	HGNC	HGNC:24174	protein_coding	YES	CCDS12159.1	ENSP00000465589	Q5FVE4	A0A140VJD4	UPI00001414E6	NM_001289177.1,NM_001289179.1,NM_030924.4	deleterious(0.02)		3/15		hmmpanther:PTHR24096:SF38,hmmpanther:PTHR24096																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	10	6147515	6147515	G	A	1	0	0	0	0	1	0	0	0	216	1203	42	3		3	ACSBG2	19	6147515	Missense_Mutation	SNP	G	C3L-00095_TP	1591475	6147515	52470101	733	4114											
ADGRE1	0	.	GRCh38	chr19	6904064	6904064	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgccgccaagatccatcAacctgtggtcctaattctat	10	11	8	12	1	2	1	1	0	1	1	4	2	4	1	5	1	2	0	5	1	4	3	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.831A>C	p.=	p.S277S	ENST00000312053	8/21	216	192	24	303	303	0	strelka-varscan-mutect	ADGRE1,synonymous_variant,p.=,ENST00000312053,NM_001974.4;ADGRE1,synonymous_variant,p.=,ENST00000381404,NM_001256252.1;ADGRE1,synonymous_variant,p.=,ENST00000250572,NM_001256253.1;ADGRE1,synonymous_variant,p.=,ENST00000381407,NM_001256254.1;ADGRE1,intron_variant,,ENST00000450315,NM_001256255.1;ADGRE1,intron_variant,,ENST00000595026,;ADGRE1,downstream_gene_variant,,ENST00000601198,;	C	ENST00000312053	Transcript	synonymous_variant	868/3128	831/2661	277/886	S	tcA/tcC		1		1	ADGRE1	HGNC	HGNC:3336	protein_coding	YES	CCDS12175.1	ENSP00000311545	Q14246		UPI0000203241	NM_001974.4			8/21		PROSITE_profiles:PS50026,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF303,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	10	6904064	6904064	A	C	1	0	0	0	0	0	0	0	1	359	117	5	5		5	ADGRE1	19	6904064	Silent	SNP	A	C3L-00095_TP	756549	6904064	51713552	734	4115											
KANK3	0	.	GRCh38	chr19	8333858	8333858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatcggggacagcgccgaCcaggaggagggcagccgcct	8	3	18	12	4	0	0	0	0	0	0	1	5	0	4	4	6	2	1	4	6	0	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.221G>T	p.Gly74Val	p.G74V	ENST00000610351	1/4	114	107	7	120	120	0	strelka-mutect	KANK3,missense_variant,p.Gly74Val,ENST00000610351,;KANK3,intron_variant,,ENST00000330915,NM_198471.2;KANK3,intron_variant,,ENST00000593649,;KANK3,intron_variant,,ENST00000595639,;KANK3,downstream_gene_variant,,ENST00000593331,;	A	ENST00000610351	Transcript	missense_variant	573/1191	221/639	74/212	G/V	gGt/gTt		1		-1	KANK3	HGNC	HGNC:24796	protein_coding			ENSP00000484877		A0A087X2C6	UPI0004E4CC7C		deleterious_low_confidence(0)		1/4		Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	10	8333858	8333858	C	A	1	0	0	0	0	1	0	0	0	7887	507	18	2		2	KANK3	19	8333858	Missense_Mutation	SNP	C	C3L-00095_TP	1429794	8333858	50283758	735	4116											
MUC16	0	.	GRCh38	chr19	8861050	8861050	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcccagccaatggaatGaggcattcagggtcttatct	10	10	12	9	0	3	1	1	1	2	0	3	3	3	3	2	4	2	1	2	4	3	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.42866C>A	p.Ser14289Ter	p.S14289*	ENST00000397910	78/84	181	169	12	226	226	0	strelka-varscan-mutect	MUC16,stop_gained,p.Ser14289Ter,ENST00000397910,NM_024690.2;MUC16,stop_gained,p.Ser1112Ter,ENST00000599436,;MUC16,downstream_gene_variant,,ENST00000596956,;MUC16,stop_gained,p.Ser1107Ter,ENST00000601404,;MUC16,3_prime_UTR_variant,,ENST00000596768,;	T	ENST00000397910	Transcript	stop_gained	43070/43816	42866/43524	14289/14507	S/*	tCa/tAa		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			78/84		PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Superfamily_domains:0047452																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	10	8861050	8861050	G	T	1	0	0	0	0	0	1	0	0	9972	1294	45	2		2	MUC16	19	8861050	Nonsense_Mutation	SNP	G	C3L-00095_TP	527192	8861050	49756566	736	4117											
COL5A3	0	.	GRCh38	chr19	9960792	9960792	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcagctgcattctggcaGgagtaggtgaagttctggcg	8	9	16	8	1	2	1	0	1	2	0	2	2	2	2	0	5	2	6	0	5	2	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.4950C>T	p.=	p.S1650S	ENST00000264828	66/67	262	231	31	361	361	0	strelka-varscan-mutect	COL5A3,synonymous_variant,p.=,ENST00000264828,NM_015719.3;	A	ENST00000264828	Transcript	synonymous_variant	5036/6174	4950/5238	1650/1745	S	tcC/tcT		1		-1	COL5A3	HGNC	HGNC:14864	protein_coding	YES	CCDS12222.1	ENSP00000264828	P25940		UPI00002032A3	NM_015719.3			66/67		PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF516,Pfam_domain:PF01410,SMART_domains:SM00038,PD002078																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	9960792	9960792	G	A	1	0	0	0	0	0	0	0	1	3487	987	35	3		3	COL5A3	19	9960792	Silent	SNP	G	C3L-00095_TP	1099742	9960792	48656824	737	4118											
RDH8	0	.	GRCh38	chr19	10013485	10013485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcggaggtcacgagtccagGgaggggatcaacatggccgc	9	4	18	10	3	2	0	2	0	0	0	3	4	3	3	2	7	1	0	2	7	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.48G>T	p.Arg16Ser	p.R16S	ENST00000591589	1/6	109	97	12	172	171	1	strelka-varscan-mutect	RDH8,missense_variant,p.Arg16Ser,ENST00000591589,NM_015725.2;COL5A3,upstream_gene_variant,,ENST00000264828,NM_015719.3;RDH8,upstream_gene_variant,,ENST00000589570,;	T	ENST00000591589	Transcript	missense_variant	237/1715	48/996	16/331	R/S	agG/agT		1		1	RDH8	HGNC	HGNC:14423	protein_coding	YES	CCDS12223.2	ENSP00000466058		K7ELF7	UPI000059D661	NM_015725.2	deleterious_low_confidence(0.03)		1/6																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	10013485	10013485	G	T	1	0	0	0	0	1	0	0	0	13365	1223	43	2		2	RDH8	19	10013485	Missense_Mutation	SNP	G	C3L-00095_TP	52693	10013485	48604131	738	4119											
TYK2	0	.	GRCh38	chr19	10362364	10362364	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaagttcccgaacgctgggGaaggaccggccccagccctc	8	4	12	17	3	0	0	0	0	0	0	2	3	1	2	6	4	2	2	6	4	3	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1569C>T	p.=	p.F523F	ENST00000525621	11/25	185	169	16	248	248	0	strelka-varscan-mutect	TYK2,synonymous_variant,p.=,ENST00000525621,NM_003331.4;TYK2,synonymous_variant,p.=,ENST00000264818,;TYK2,synonymous_variant,p.=,ENST00000524462,;TYK2,synonymous_variant,p.=,ENST00000529370,;TYK2,downstream_gene_variant,,ENST00000525220,;TYK2,upstream_gene_variant,,ENST00000533334,;TYK2,upstream_gene_variant,,ENST00000529412,;TYK2,upstream_gene_variant,,ENST00000531620,;	A	ENST00000525621	Transcript	synonymous_variant	2051/4347	1569/3564	523/1187	F	ttC/ttT		1		-1	TYK2	HGNC	HGNC:12440	protein_coding	YES	CCDS12236.1	ENSP00000431885	P29597	A0A024R7E4	UPI000013D573	NM_003331.4			11/25		Gene3D:3.30.505.10,PIRSF_domain:PIRSF000636,Prints_domain:PR01827,SMART_domains:SM00252,Superfamily_domains:SSF55550																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	10362364	10362364	G	A	1	0	0	0	0	0	0	0	1	17325	1165	41	3		3	TYK2	19	10362364	Silent	SNP	G	C3L-00095_TP	348879	10362364	48255252	739	4120											
CARM1	0	.	GRCh38	chr19	10909209	10909209	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgacttcaaggacaaggTgagtggcccgcgcatgtgcc	9	6	13	13	3	1	1	1	1	0	0	1	3	1	2	3	3	1	1	3	3	2	1	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.558+2T>A		p.X186_splice	ENST00000327064		115	108	7	167	167	0	strelka-varscan-mutect	CARM1,splice_donor_variant,,ENST00000327064,NM_199141.1;CARM1,splice_donor_variant,,ENST00000344150,;CARM1,downstream_gene_variant,,ENST00000588947,;CARM1,splice_donor_variant,,ENST00000586221,;CARM1,splice_donor_variant,,ENST00000590699,;CARM1,splice_donor_variant,,ENST00000589693,;CARM1,splice_donor_variant,,ENST00000590039,;	A	ENST00000327064	Transcript	splice_donor_variant	-/3330	558/1827	186/608				1		1	CARM1	HGNC	HGNC:23393	protein_coding	YES	CCDS12250.1	ENSP00000325690	Q86X55		UPI000004B825	NM_199141.1				4/15																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	10	10909209	10909209	T	A	1	0	0	0	0	0	0	1	0	2351	1710	59	4		4	CARM1	19	10909209	Splice_Site	SNP	T	C3L-00095_TP	546845	10909209	47708407	740	4121											
DOCK6	0	.	GRCh38	chr19	11215800	11215800	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgggtatgtcaccctcttaCcacgacttcgccgaaccatt	8	11	8	14	3	2	0	1	0	1	0	3	2	2	0	4	1	2	1	4	1	3	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.4021+1G>T		p.X1341_splice	ENST00000294618		126	116	10	171	171	0	strelka-varscan-mutect	DOCK6,splice_donor_variant,,ENST00000294618,NM_020812.3;DOCK6,splice_donor_variant,,ENST00000587656,;CTC-510F12.2,intron_variant,,ENST00000588634,;DOCK6,non_coding_transcript_exon_variant,,ENST00000588429,;DOCK6,downstream_gene_variant,,ENST00000592403,;	A	ENST00000294618	Transcript	splice_donor_variant	-/6358	4021/6144	1341/2047				1		-1	DOCK6	HGNC	HGNC:19189	protein_coding	YES	CCDS45975.1	ENSP00000294618	Q96HP0		UPI000059D66F	NM_020812.3				31/47																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	10	11215800	11215800	C	A	1	0	0	0	0	0	0	1	0	4506	521	18	2		2	DOCK6	19	11215800	Splice_Site	SNP	C	C3L-00095_TP	306591	11215800	47401816	741	4122											
ADGRE3	0	.	GRCh38	chr19	14641613	14641613	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacagtcagcacgggatcctCctcctgggaccgagaaaaaa	13	5	11	12	2	1	1	1	0	0	1	4	5	4	3	4	2	1	1	4	2	3	0	rs747402538		C3L-00095_TP	C3L-00095_NB	C	C																c.1054G>T	p.Glu352Ter	p.E352*	ENST00000253673	10/16	217	187	30	322	322	0	strelka-varscan-mutect	ADGRE3,stop_gained,p.Glu300Ter,ENST00000344373,NM_001289158.1;ADGRE3,stop_gained,p.Glu352Ter,ENST00000253673,NM_032571.4;ADGRE3,stop_gained,p.Glu137Ter,ENST00000599900,;ADGRE3,stop_gained,p.Glu226Ter,ENST00000443157,NM_001289159.1;	A	ENST00000253673	Transcript	stop_gained	1155/2254	1054/1959	352/652	E/*	Gag/Tag	rs747402538	1		-1	ADGRE3	HGNC	HGNC:23647	protein_coding	YES	CCDS12315.1	ENSP00000253673	Q9BY15		UPI0000456C29	NM_032571.4			10/16		hmmpanther:PTHR12011:SF328,hmmpanther:PTHR12011,Superfamily_domains:SSF81321																	HIGH	1	SNV	1			1										PASS		rs747402538	.												A	4	1	10	14641613	14641613	C	A	1	0	0	0	0	0	1	0	0	361	869	30	2		2	ADGRE3	19	14641613	Nonsense_Mutation	SNP	C	C3L-00095_TP	3425813	14641613	43976003	742	4123											
SLC1A6	0	.	GRCh38	chr19	14956709	14956709	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggatgcccacaggtgcataCctgtgtgagggagccacata	11	7	13	10	0	0	1	0	1	0	0	0	3	0	3	3	3	4	1	3	3	2	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.936G>A	p.Trp312Ter	p.W312*	ENST00000221742	6/9	67	59	8	84	84	0	strelka-varscan-mutect	SLC1A6,stop_gained,p.Trp248Ter,ENST00000430939,;SLC1A6,stop_gained,p.Trp312Ter,ENST00000221742,NM_005071.2;SLC1A6,intron_variant,,ENST00000600144,;SLC1A6,downstream_gene_variant,,ENST00000598504,NM_001272087.1;SLC1A6,downstream_gene_variant,,ENST00000544886,NM_001272088.1;	T	ENST00000221742	Transcript	stop_gained,splice_region_variant	944/1719	936/1695	312/564	W/*	tgG/tgA		1		-1	SLC1A6	HGNC	HGNC:10944	protein_coding	YES	CCDS12321.1	ENSP00000221742	P48664		UPI0000129B1A	NM_005071.2			6/9		Transmembrane_helices:TMhelix,hmmpanther:PTHR11958:SF67,hmmpanther:PTHR11958,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221,Prints_domain:PR00173																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	10	14956709	14956709	C	T	1	0	0	0	0	0	1	0	0	14702	521	18	3		3	SLC1A6	19	14956709	Nonsense_Mutation	SNP	C	C3L-00095_TP	315096	14956709	43660907	743	4124											
CYP4F3	0	.	GRCh38	chr19	15649210	15649210	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcccgtctggacatgttTgagcacatcagcctcatgac	9	10	10	12	1	3	2	2	2	1	0	3	3	3	3	2	1	3	2	2	1	0	1	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.576T>G	p.Phe192Leu	p.F192L	ENST00000221307	6/13	263	246	17	374	374	0	strelka-varscan-mutect	CYP4F3,missense_variant,p.Phe192Leu,ENST00000221307,NM_000896.2;CYP4F3,missense_variant,p.Phe192Leu,ENST00000591058,NM_001199208.1;CYP4F3,missense_variant,p.Phe192Leu,ENST00000586182,NM_001199209.1;CYP4F3,missense_variant,p.Phe192Leu,ENST00000585846,;CYP4F3,missense_variant,p.Phe192Leu,ENST00000620621,;CYP4F3,3_prime_UTR_variant,,ENST00000587360,;CYP4F3,non_coding_transcript_exon_variant,,ENST00000592279,;CYP4F3,upstream_gene_variant,,ENST00000592424,;CYP4F3,downstream_gene_variant,,ENST00000609670,;	G	ENST00000221307	Transcript	missense_variant	623/5050	576/1563	192/520	F/L	ttT/ttG		1		1	CYP4F3	HGNC	HGNC:2646	protein_coding	YES	CCDS12332.1	ENSP00000221307	Q08477	A0A024R7J8	UPI0000052BE3	NM_000896.2	deleterious(0.04)		6/13		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF25,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	15649210	15649210	T	G	1	0	0	0	0	1	0	0	0	3993	1809	63	5		5	CYP4F3	19	15649210	Missense_Mutation	SNP	T	C3L-00095_TP	692501	15649210	42968406	744	4125											
OR10H5	0	.	GRCh38	chr19	15794286	15794286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccgtggccatcatcccgCgcatgctggccgacctgctg	6	7	11	17	4	1	0	1	0	0	0	2	1	2	0	5	2	2	3	5	2	0	0	rs142693914		C3L-00095_TP	C3L-00095_NB	C	C																c.238C>A	p.Arg80Ser	p.R80S	ENST00000308940	1/1	81	73	8	153	153	0	varscan-mutect	OR10H5,missense_variant,p.Arg80Ser,ENST00000308940,NM_001004466.1;	A	ENST00000308940	Transcript	missense_variant	336/1132	238/948	80/315	R/S	Cgc/Agc	rs142693914	1		1	OR10H5	HGNC	HGNC:15389	protein_coding	YES	CCDS32940.1	ENSP00000310704	Q8NGA6	A0A126GWE9	UPI0000041C8F	NM_001004466.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF122,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs142693914	.												A	3	1	10	15794286	15794286	C	A	1	0	0	0	0	1	0	0	0	10986	768	27	1		1	OR10H5	19	15794286	Missense_Mutation	SNP	C	C3L-00095_TP	145076	15794286	42823330	745	4126											
AP1M1	0	.	GRCh38	chr19	16234430	16234430	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagattaccagctccggaccCagtgaggggctgtcgcagcc	8	7	13	13	2	0	2	0	1	0	1	2	3	1	3	4	3	3	3	4	3	2	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1303C>T	p.Gln435Ter	p.Q435*	ENST00000444449	13/13	199	182	17	256	256	0	strelka-varscan-mutect	AP1M1,stop_gained,p.Gln423Ter,ENST00000291439,NM_032493.3;AP1M1,stop_gained,p.Gln435Ter,ENST00000444449,NM_001130524.1;AP1M1,stop_gained,p.Gln351Ter,ENST00000590756,;AP1M1,stop_gained,p.Gln370Ter,ENST00000429941,;AP1M1,intron_variant,,ENST00000586543,;AP1M1,non_coding_transcript_exon_variant,,ENST00000592703,;	T	ENST00000444449	Transcript	stop_gained	1396/2311	1303/1308	435/435	Q/*	Cag/Tag		1		1	AP1M1	HGNC	HGNC:13667	protein_coding	YES	CCDS46008.1	ENSP00000388996	Q9BXS5		UPI000051DDEE	NM_001130524.1			13/13																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	10	16234430	16234430	C	T	1	0	0	0	0	0	1	0	0	850	595	21	3		3	AP1M1	19	16234430	Nonsense_Mutation	SNP	C	C3L-00095_TP	440144	16234430	42383186	746	4127											
UNC13A	0	.	GRCh38	chr19	17630147	17630147	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacccactctcccacacctTggcaaagcgcctcatgtagt	9	9	6	17	1	2	0	1	0	1	0	3	0	2	0	4	1	2	2	4	1	3	3	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.3667A>T	p.Lys1223Ter	p.K1223*	ENST00000519716	30/44	112	103	9	142	142	0	strelka-varscan-mutect	UNC13A,stop_gained,p.Lys1223Ter,ENST00000519716,NM_001080421.2;UNC13A,stop_gained,p.Lys1223Ter,ENST00000551649,;UNC13A,stop_gained,p.Lys1223Ter,ENST00000552293,;UNC13A,stop_gained,p.Lys1221Ter,ENST00000550896,;UNC13A,upstream_gene_variant,,ENST00000601528,;	A	ENST00000519716	Transcript	stop_gained,splice_region_variant	3667/9838	3667/5112	1223/1703	K/*	Aag/Tag		1		-1	UNC13A	HGNC	HGNC:23150	protein_coding	YES	CCDS46013.2	ENSP00000429562	Q9UPW8		UPI00006C19A7	NM_001080421.2			30/44		PROSITE_profiles:PS51258,hmmpanther:PTHR10480																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	10	17630147	17630147	T	A	1	0	0	0	0	0	1	0	0	17508	1826	63	4		4	UNC13A	19	17630147	Nonsense_Mutation	SNP	T	C3L-00095_TP	1395717	17630147	40987469	747	4128											
ZNF486	0	.	GRCh38	chr19	20197998	20197998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacataagacaactcatactGgagagaaaccttacaaatgt	19	8	6	8	0	1	2	1	0	0	2	1	4	1	3	1	1	5	0	1	1	7	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1288G>A	p.Gly430Arg	p.G430R	ENST00000335117	4/4	348	319	29	320	320	0	strelka-varscan-mutect	ZNF486,missense_variant,p.Gly430Arg,ENST00000335117,NM_052852.3;CTC-260E6.6,intron_variant,,ENST00000585498,;CTC-260E6.6,intron_variant,,ENST00000593655,;CTC-260E6.6,intron_variant,,ENST00000586657,;	A	ENST00000335117	Transcript	missense_variant	1345/3837	1288/1392	430/463	G/R	Gga/Aga		1		1	ZNF486	HGNC	HGNC:20807	protein_coding	YES	CCDS46029.1	ENSP00000335042	Q96H40		UPI00002376E8	NM_052852.3	deleterious(0.05)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF95,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	20197998	20197998	G	A	1	0	0	0	0	1	0	0	0	18511	1349	47	3		3	ZNF486	19	20197998	Missense_Mutation	SNP	G	C3L-00095_TP	2567851	20197998	38419618	748	4129											
ZNF43	0	.	GRCh38	chr19	21809109	21809109	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgtaaggtttctctcCaggatgaattttcttatgtt	9	19	7	6	0	2	1	0	1	2	0	4	2	3	2	1	2	0	3	1	2	3	7	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.955G>T	p.Gly319Ter	p.G319*	ENST00000357491	4/4	312	285	27	258	258	0	strelka-varscan-mutect	ZNF43,stop_gained,p.Gly304Ter,ENST00000594012,NM_001256649.1;ZNF43,stop_gained,p.Gly319Ter,ENST00000357491,NM_001256653.1;ZNF43,stop_gained,p.Gly304Ter,ENST00000595461,NM_001256648.1;ZNF43,stop_gained,p.Gly304Ter,ENST00000598381,NM_001256650.1;ZNF43,stop_gained,p.Gly310Ter,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000599906,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000596899,;	A	ENST00000357491	Transcript	stop_gained	1089/5249	955/2457	319/818	G/*	Gga/Tga		1		-1	ZNF43	HGNC	HGNC:13109	protein_coding	YES	CCDS74321.1	ENSP00000350085		A0A087WSW2	UPI00002038CF	NM_001256653.1			4/4		Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF344,Superfamily_domains:SSF57667																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	10	21809109	21809109	C	A	1	0	0	0	0	0	1	0	0	18475	603	21	2		2	ZNF43	19	21809109	Nonsense_Mutation	SNP	C	C3L-00095_TP	1611111	21809109	36808507	749	4130											
ZNF208	0	.	GRCh38	chr19	21973910	21973910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggccacttataggctttgCcgcattcttcacatttgtag	8	14	9	10	1	2	0	1	0	1	0	2	0	2	0	2	2	1	3	2	2	3	7	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1124G>T	p.Gly375Val	p.G375V	ENST00000397126	4/4	315	285	30	286	286	0	varscan-mutect	ZNF208,missense_variant,p.Gly375Val,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Gly375Val,ENST00000609966,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	A	ENST00000397126	Transcript	missense_variant	1273/3992	1124/3843	375/1280	G/V	gGc/gTc		1		-1	ZNF208	HGNC	HGNC:12999	protein_coding	YES	CCDS54240.1	ENSP00000380315	O43345		UPI0001B23C28	NM_007153.3	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF103,hmmpanther:PTHR24375,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		rs1160600789	.												A	3	1	10	21973910	21973910	C	A	1	0	0	0	0	1	0	0	0	18343	739	26	2		2	ZNF208	19	21973910	Missense_Mutation	SNP	C	C3L-00095_TP	164801	21973910	36643706	750	4131											
ZNF492	0	.	GRCh38	chr19	22665123	22665123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgtgaagaatgtggcaaagCctttaacaactcctctattc	12	12	8	9	0	1	2	0	1	1	1	3	2	2	2	2	1	3	1	2	1	6	4	rs776673156		C3L-00095_TP	C3L-00095_NB	C	C																c.1454C>A	p.Ala485Asp	p.A485D	ENST00000456783	4/4	252	233	19	231	231	0	varscan-mutect	ZNF492,missense_variant,p.Ala485Asp,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	A	ENST00000456783	Transcript	missense_variant	1698/4245	1454/1596	485/531	A/D	gCc/gAc	rs776673156	1		1	ZNF492	HGNC	HGNC:23707	protein_coding	YES	CCDS46032.1	ENSP00000413660	Q9P255		UPI00001C200B	NM_020855.2	deleterious(0.04)		4/4		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs776673156	.												A	3	1	10	22665123	22665123	C	A	1	0	0	0	0	1	0	0	0	18516	739	26	2		2	ZNF492	19	22665123	Missense_Mutation	SNP	C	C3L-00095_TP	691213	22665123	35952493	751	4132											
VSTM2B	0	.	GRCh38	chr19	29529947	29529947	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacacgcaggagcacaaggcCcaggcgatgctgcgcgtgct	9	4	15	13	4	0	0	0	0	0	0	0	3	0	1	1	3	4	4	1	3	1	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.426C>A	p.=	p.A142A	ENST00000335523	4/5	373	349	24	525	525	0	strelka-varscan-mutect	VSTM2B,synonymous_variant,p.=,ENST00000335523,NM_001146339.1;CTC-525D6.1,upstream_gene_variant,,ENST00000582581,;CTC-525D6.2,upstream_gene_variant,,ENST00000579268,;CTC-525D6.1,upstream_gene_variant,,ENST00000577849,;	A	ENST00000335523	Transcript	synonymous_variant	511/1488	426/858	142/285	A	gcC/gcA		1		1	VSTM2B	HGNC	HGNC:33595	protein_coding	YES	CCDS46034.1	ENSP00000335038	A6NLU5		UPI00001D8158	NM_001146339.1			4/5		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF23,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW		SNV	5			1										PASS		.	.												A	2	1	10	29529947	29529947	C	A	1	0	0	0	0	0	0	0	1	17781	610	22	2		2	VSTM2B	19	29529947	Silent	SNP	C	C3L-00095_TP	6864824	29529947	29087669	752	4133											
C19orf12	0	.	GRCh38	chr19	29708327	29708327	+	Frame_Shift_Del	DEL	C	C	-																															cctgtgaccagggcacccttCccagagtgcttgacagccgc																								novel		C3L-00095_TP	C3L-00095_NB	C	C																c.120delG	p.Lys41ArgfsTer32	p.K41Rfs*32	ENST00000392278	2/3	292	267	25	446	446	0	sindel-varindel-pindel	C19orf12,frameshift_variant,p.Lys30ArgfsTer32,ENST00000614091,NM_001256047.1;C19orf12,frameshift_variant,p.Lys30ArgfsTer32,ENST00000323670,NM_031448.4;C19orf12,frameshift_variant,p.Lys30ArgfsTer32,ENST00000592153,NM_001256046.1;C19orf12,frameshift_variant,p.Lys41ArgfsTer32,ENST00000392278,NM_001031726.3;C19orf12,frameshift_variant,p.Lys30ArgfsTer32,ENST00000591243,;C19orf12,intron_variant,,ENST00000623113,NM_001282929.1;C19orf12,intron_variant,,ENST00000392276,NM_001282930.1,NM_001282931.1;C19orf12,intron_variant,,ENST00000392275,;C19orf12,frameshift_variant,p.Lys30ArgfsTer28,ENST00000342680,;	-	ENST00000392278	Transcript	frameshift_variant	247/895	120/459	40/152	G/X	ggG/gg		1		-1	C19orf12	HGNC	HGNC:25443	protein_coding	YES	CCDS42542.1	ENSP00000376103	Q9NSK7		UPI0000DB2738	NM_001031726.3			2/3		hmmpanther:PTHR31493																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	10	29708327	29708327	C	-	1	0	1	0	1	0	0	0	0	1903	842	30	0		0	C19orf12	19	29708327	Frame_Shift_Del	DEL	C	C3L-00095_TP	178380	29708327	28909289	753	4134											
ZNF536	0	.	GRCh38	chr19	30443959	30443959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaccgcaagtacccgtgcCcactctgcggcaagcgcttc	9	6	10	16	4	1	1	0	0	1	1	2	1	1	1	3	1	5	4	3	1	4	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.397C>A	p.Pro133Thr	p.P133T	ENST00000355537	2/5	547	517	30	765	764	1	strelka-varscan-mutect	ZNF536,missense_variant,p.Pro133Thr,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.Pro133Thr,ENST00000585628,;ZNF536,missense_variant,p.Pro133Thr,ENST00000591488,;	A	ENST00000355537	Transcript	missense_variant	544/4945	397/3903	133/1300	P/T	Cca/Aca		1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	tolerated(0.23)		2/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1465546066	.												A	3	1	10	30443959	30443959	C	A	1	0	0	0	0	1	0	0	0	18547	623	22	2		2	ZNF536	19	30443959	Missense_Mutation	SNP	C	C3L-00095_TP	735632	30443959	28173657	754	4135											
USF2	0	.	GRCh38	chr19	35270529	35270529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgatttgcctatttccCagcgtccagtgtgggagata	8	11	12	10	2	0	1	0	0	0	1	2	3	2	1	3	2	2	1	3	2	2	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.512C>A	p.Pro171Gln	p.P171Q	ENST00000222305	5/10	95	88	7	144	143	1	strelka-varscan-mutect	USF2,missense_variant,p.Pro171Gln,ENST00000222305,NM_003367.2;USF2,missense_variant,p.Pro171Gln,ENST00000595068,;USF2,missense_variant,p.Pro104Gln,ENST00000343550,NM_207291.1;USF2,missense_variant,p.Pro169Gln,ENST00000594064,;USF2,missense_variant,p.Pro27Gln,ENST00000599471,;USF2,missense_variant,p.Pro49Gln,ENST00000596380,;USF2,intron_variant,,ENST00000379134,;LSR,downstream_gene_variant,,ENST00000602122,NM_001260489.1;LSR,downstream_gene_variant,,ENST00000621372,NM_205834.3;LSR,downstream_gene_variant,,ENST00000361790,;LSR,downstream_gene_variant,,ENST00000354900,NM_015925.6;LSR,downstream_gene_variant,,ENST00000360798,NM_205835.3;LSR,downstream_gene_variant,,ENST00000605618,;LSR,downstream_gene_variant,,ENST00000347609,;LSR,downstream_gene_variant,,ENST00000427250,NM_001260490.1;USF2,downstream_gene_variant,,ENST00000598058,;USF2,upstream_gene_variant,,ENST00000599625,;LSR,downstream_gene_variant,,ENST00000599658,;USF2,upstream_gene_variant,,ENST00000600341,;USF2,missense_variant,p.Pro13Gln,ENST00000597671,;USF2,non_coding_transcript_exon_variant,,ENST00000607959,;USF2,downstream_gene_variant,,ENST00000602164,;LSR,downstream_gene_variant,,ENST00000597446,;USF2,downstream_gene_variant,,ENST00000593708,;	A	ENST00000222305	Transcript	missense_variant	549/1634	512/1041	171/346	P/Q	cCa/cAa		1		1	USF2	HGNC	HGNC:12594	protein_coding	YES	CCDS12452.1	ENSP00000222305	Q15853		UPI0000137E4A	NM_003367.2	deleterious(0.01)		5/10		hmmpanther:PTHR12565:SF11,hmmpanther:PTHR12565																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	35270529	35270529	C	A	1	0	0	0	0	1	0	0	0	17566	594	21	2		2	USF2	19	35270529	Missense_Mutation	SNP	C	C3L-00095_TP	4826570	35270529	23347087	755	4136											
SPRED3	0	.	GRCh38	chr19	38395786	38395786	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccaaggcctccccggaagcgGaggaggcagcgcgctgcgtg	7	3	17	14	5	0	0	0	0	0	0	1	3	1	3	4	5	3	2	4	5	2	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.874G>C	p.Glu292Gln	p.E292Q	ENST00000338502	5/5	72	63	9	100	99	1	strelka-varscan-mutect	SPRED3,missense_variant,p.Glu292Gln,ENST00000338502,NM_001042522.2;SPRED3,missense_variant,p.Glu336Gln,ENST00000587013,;SPRED3,missense_variant,p.Glu292Gln,ENST00000586301,;SPRED3,downstream_gene_variant,,ENST00000587947,;SPRED3,downstream_gene_variant,,ENST00000587564,;SPRED3,downstream_gene_variant,,ENST00000590962,;SPRED3,downstream_gene_variant,,ENST00000586958,;	C	ENST00000338502	Transcript	missense_variant	977/4778	874/1233	292/410	E/Q	Gag/Cag		1		1	SPRED3	HGNC	HGNC:31041	protein_coding	YES	CCDS42560.1	ENSP00000345405	Q2MJR0		UPI000040BCE3	NM_001042522.2	tolerated(0.53)		5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR11202:SF19,hmmpanther:PTHR11202																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	38395786	38395786	G	C	1	0	0	0	0	1	0	0	0	15448	1175	41	4		4	SPRED3	19	38395786	Missense_Mutation	SNP	G	C3L-00095_TP	3125257	38395786	20221830	756	4137											
CYP2S1	0	.	GRCh38	chr19	41205963	41205963	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attatttcccctcagggcacGgaggtcttccccctccttgg	5	12	9	15	1	2	0	1	0	1	0	5	1	5	1	5	4	0	1	5	4	1	4	rs754290434		C3L-00095_TP	C3L-00095_NB	G	G																c.1170G>T	p.=	p.T390T	ENST00000310054	8/9	80	69	11	82	82	0	strelka-varscan-mutect	CYP2S1,missense_variant,p.Arg29Leu,ENST00000593890,;CYP2S1,synonymous_variant,p.=,ENST00000310054,NM_030622.7;CYP2S1,synonymous_variant,p.=,ENST00000597754,;CYP2S1,downstream_gene_variant,,ENST00000600561,;CYP2S1,3_prime_UTR_variant,,ENST00000593545,;CYP2S1,3_prime_UTR_variant,,ENST00000595590,;	T	ENST00000310054	Transcript	synonymous_variant	1386/2782	1170/1515	390/504	T	acG/acT	rs754290434	1		1	CYP2S1	HGNC	HGNC:15654	protein_coding	YES	CCDS12573.1	ENSP00000308032	Q96SQ9		UPI00000467C9	NM_030622.7			8/9		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF23,Superfamily_domains:SSF48264																	LOW	1	SNV	1			1										PASS		rs754290434	.												T	2	4	10	41205963	41205963	G	T	1	0	0	0	0	0	0	0	1	3977	1130	39	1		1	CYP2S1	19	41205963	Silent	SNP	G	C3L-00095_TP	2810177	41205963	17411653	757	4138											
AXL	0	.	GRCh38	chr19	41230966	41230966	+	Splice_Site	DEL	G	G	-																															ttccctcatatgactccctaGggctgaacaagacatcctct																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.588delG	p.Leu197Ter	p.X196_splice	ENST00000301178		152	130	22	245	245	0	sindel-varindel-pindel	AXL,splice_acceptor_variant,p.Leu197Ter,ENST00000301178,NM_021913.4;AXL,splice_acceptor_variant,p.Leu197Ter,ENST00000359092,NM_001699.5;AXL,splice_acceptor_variant,,ENST00000593513,NM_001278599.1;AXL,splice_acceptor_variant,,ENST00000599659,;	-	ENST00000301178	Transcript	splice_acceptor_variant	-/4737	588/2685	196/894				1		1	AXL	HGNC	HGNC:905	protein_coding	YES	CCDS12575.1	ENSP00000301178	P30530		UPI000014319B	NM_021913.4				4/19																		HIGH	1	deletion	1	2		1										PASS		.	.												-	8	5	10	41230966	41230966	G	-	1	0	1	0	1	0	0	1	0	1395	1014	35	0		0	AXL	19	41230966	Splice_Site	DEL	G	C3L-00095_TP	25003	41230966	17386650	758	4139											
ETHE1	0	.	GRCh38	chr19	43527114	43527114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacctgccgcaggaggatggGggctccagacccgccgcgct	6	4	15	16	4	0	1	0	0	0	1	1	3	1	3	5	4	1	3	5	4	0	0	rs778916161		C3L-00095_TP	C3L-00095_NB	G	G																c.64C>A	p.Pro22Thr	p.P22T	ENST00000292147	1/7	279	241	38	380	380	0	strelka-varscan-mutect	ETHE1,missense_variant,p.Pro22Thr,ENST00000600651,;ETHE1,missense_variant,p.Pro22Thr,ENST00000292147,NM_014297.3;ZNF575,intron_variant,,ENST00000458714,;ETHE1,missense_variant,p.Pro22Thr,ENST00000598330,;ETHE1,missense_variant,p.Pro22Thr,ENST00000594342,;ETHE1,missense_variant,p.Pro22Thr,ENST00000602138,;ETHE1,non_coding_transcript_exon_variant,,ENST00000595115,;	T	ENST00000292147	Transcript	missense_variant	131/963	64/765	22/254	P/T	Ccc/Acc	rs778916161	1		-1	ETHE1	HGNC	HGNC:23287	protein_coding	YES	CCDS12622.1	ENSP00000292147	O95571	A0A0S2Z5B3	UPI0000073C7C	NM_014297.3	tolerated(0.2)		1/7		hmmpanther:PTHR11935:SF102,hmmpanther:PTHR11935																	MODERATE	1	SNV	1			1										PASS		rs778916161	.												T	3	4	10	43527114	43527114	G	T	1	0	0	0	0	1	0	0	0	5135	1232	43	2		2	ETHE1	19	43527114	Missense_Mutation	SNP	G	C3L-00095_TP	2296148	43527114	15090502	759	4140											
IRGC	0	.	GRCh38	chr19	43719271	43719271	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgggagcacgacctgccctCccaccggcgccacgctggcc	5	4	12	20	4	0	0	0	0	0	0	1	2	1	1	6	3	2	2	6	3	0	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.713C>G	p.Ser238Cys	p.S238C	ENST00000244314	2/2	38	33	5	37	37	0	strelka-varscan-mutect	IRGC,missense_variant,p.Ser238Cys,ENST00000244314,NM_019612.3;IRGC,missense_variant,p.Ser275Cys,ENST00000596627,;	G	ENST00000244314	Transcript	missense_variant	912/1662	713/1392	238/463	S/C	tCc/tGc		1		1	IRGC	HGNC	HGNC:28835	protein_coding	YES	CCDS12629.1	ENSP00000244314	Q6NXR0	J7NNX4	UPI000011DFC0	NM_019612.3	deleterious(0.01)		2/2		Pfam_domain:PF05049,hmmpanther:PTHR32341,hmmpanther:PTHR32341:SF7,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	43719271	43719271	C	G	1	0	0	0	0	1	0	0	0	7745	855	30	4		4	IRGC	19	43719271	Missense_Mutation	SNP	C	C3L-00095_TP	192157	43719271	14898345	760	4141											
ZNF112	0	.	GRCh38	chr19	44329564	44329564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacacttacagaaatgatttTtcatggaaatttgctgacat	14	14	6	7	0	1	3	1	2	0	1	1	4	1	4	0	1	2	1	0	1	3	4	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.611A>G	p.Lys204Arg	p.K204R	ENST00000337401	5/5	131	108	23	142	142	0	strelka-varscan-mutect	ZNF112,missense_variant,p.Lys198Arg,ENST00000354340,NM_013380.3;ZNF112,missense_variant,p.Lys204Arg,ENST00000337401,NM_001083335.1;ZNF112,missense_variant,p.Lys137Arg,ENST00000587909,;ZNF112,downstream_gene_variant,,ENST00000590687,;CTC-512J12.6,downstream_gene_variant,,ENST00000588212,;ZNF112,downstream_gene_variant,,ENST00000588057,;ZNF112,downstream_gene_variant,,ENST00000592151,;	C	ENST00000337401	Transcript	missense_variant	700/3321	611/2742	204/913	K/R	aAa/aGa		1		-1	ZNF112	HGNC	HGNC:12892	protein_coding	YES	CCDS54276.1	ENSP00000337081	Q9UJU3		UPI000006EC70	NM_001083335.1	tolerated(0.27)		5/5																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	44329564	44329564	T	C	1	0	0	0	0	1	0	0	0	18296	1841	64	5		5	ZNF112	19	44329564	Missense_Mutation	SNP	T	C3L-00095_TP	610293	44329564	14288052	761	4142											
IRF2BP1	0	.	GRCh38	chr19	45885076	45885076	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgcaggcggacagcgccagTagctgttcccgcactgcttt	6	8	13	14	4	0	0	0	0	0	0	1	1	1	1	2	2	3	6	2	2	1	3	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.699A>T	p.=	p.L233L	ENST00000302165	1/1	267	209	58	278	278	0	strelka-varscan-mutect	IRF2BP1,synonymous_variant,p.=,ENST00000302165,NM_015649.2;MYPOP,downstream_gene_variant,,ENST00000322217,NM_001012643.3;	A	ENST00000302165	Transcript	synonymous_variant	1095/2564	699/1755	233/584	L	ctA/ctT		1		-1	IRF2BP1	HGNC	HGNC:21728	protein_coding	YES	CCDS12678.1	ENSP00000307265	Q8IU81		UPI00000747C7	NM_015649.2			1/1		hmmpanther:PTHR10816																	LOW		SNV				1										PASS		rs1370881778	.												A	2	1	10	45885076	45885076	T	A	1	0	0	0	0	0	0	0	1	7735	1625	57	4		4	IRF2BP1	19	45885076	Silent	SNP	T	C3L-00095_TP	1555512	45885076	12732540	762	4143											
SLC8A2	0	.	GRCh38	chr19	47430228	47430228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgatgtgcggccggcgcCggtacagcagcacggcaatg	7	4	16	14	7	0	0	0	0	0	0	0	1	0	0	3	4	4	4	3	4	2	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2627G>A	p.Arg876Gln	p.R876Q	ENST00000236877	10/10	233	206	27	324	324	0	strelka-varscan-mutect	SLC8A2,missense_variant,p.Arg876Gln,ENST00000236877,NM_015063.2;SLC8A2,missense_variant,p.Arg632Gln,ENST00000542837,;SLC8A2,non_coding_transcript_exon_variant,,ENST00000539381,;SLC8A2,downstream_gene_variant,,ENST00000601757,;SLC8A2,downstream_gene_variant,,ENST00000600576,;	T	ENST00000236877	Transcript	missense_variant	3023/5234	2627/2766	876/921	R/Q	cGg/cAg		1		-1	SLC8A2	HGNC	HGNC:11069	protein_coding	YES	CCDS33065.1	ENSP00000236877	Q9UPR5		UPI000012FC49	NM_015063.2	deleterious(0)		10/10		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF8,TIGRFAM_domain:TIGR00845,Pfam_domain:PF01699																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	47430228	47430228	C	T	1	0	0	0	0	1	0	0	0	14990	652	23	1		1	SLC8A2	19	47430228	Missense_Mutation	SNP	C	C3L-00095_TP	1545152	47430228	11187388	763	4144											
CCDC155	0	.	GRCh38	chr19	49417190	49417190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggaactccagcaagccctgGtgcctgtgatgaaaaagctg	11	7	13	10	0	0	2	0	2	0	0	1	3	1	3	3	2	5	2	3	2	4	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1471G>T	p.Val491Leu	p.V491L	ENST00000447857	19/20	138	116	22	202	202	0	strelka-varscan-mutect	CCDC155,missense_variant,p.Val491Leu,ENST00000447857,NM_144688.4;CCDC155,missense_variant,p.Val453Leu,ENST00000600570,;CCDC155,downstream_gene_variant,,ENST00000593362,;	T	ENST00000447857	Transcript	missense_variant	1676/2378	1471/1689	491/562	V/L	Gtg/Ttg		1		1	CCDC155	HGNC	HGNC:26520	protein_coding	YES	CCDS46140.1	ENSP00000404220	Q8N6L0		UPI000006F690	NM_144688.4	deleterious_low_confidence(0.02)		19/20		hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF341																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	49417190	49417190	G	T	1	0	0	0	0	1	0	0	0	2476	1261	44	2		2	CCDC155	19	49417190	Missense_Mutation	SNP	G	C3L-00095_TP	1986962	49417190	9200426	764	4145											
CPT1C	0	.	GRCh38	chr19	49713543	49713543	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaactccaggcacaggTgtggatttctctcccgccag	9	8	12	12	1	1	1	0	0	1	1	4	3	3	2	3	4	1	1	3	4	1	1	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.2350T>G	p.Cys784Gly	p.C784G	ENST00000392518	20/20	176	150	26	195	195	0	strelka-varscan-mutect	CPT1C,splice_donor_variant,,ENST00000597099,;CPT1C,missense_variant,p.Cys784Gly,ENST00000392518,NM_001199752.2;CPT1C,missense_variant,p.Cys773Gly,ENST00000405931,NM_001136052.2;CPT1C,missense_variant,p.Cys784Gly,ENST00000323446,NM_152359.2;CPT1C,missense_variant,p.Cys784Gly,ENST00000598293,NM_001199753.1;CPT1C,missense_variant,p.Cys317Gly,ENST00000595031,;CPT1C,non_coding_transcript_exon_variant,,ENST00000595901,;CPT1C,non_coding_transcript_exon_variant,,ENST00000599937,;CPT1C,non_coding_transcript_exon_variant,,ENST00000598647,;CPT1C,non_coding_transcript_exon_variant,,ENST00000598072,;CPT1C,downstream_gene_variant,,ENST00000596701,;CPT1C,downstream_gene_variant,,ENST00000598259,;CPT1C,downstream_gene_variant,,ENST00000599023,;CPT1C,downstream_gene_variant,,ENST00000295404,;	G	ENST00000392518	Transcript	missense_variant	2722/2910	2350/2412	784/803	C/G	Tgt/Ggt		1		1	CPT1C	HGNC	HGNC:18540	protein_coding	YES	CCDS12779.1	ENSP00000376303	Q8TCG5	A0A024QZE3	UPI0000071C78	NM_001199752.2	tolerated_low_confidence(0.51)		20/20																			MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	10	49713543	49713543	T	G	1	0	0	0	0	1	0	0	0	3630	1696	59	5		5	CPT1C	19	49713543	Missense_Mutation	SNP	T	C3L-00095_TP	296353	49713543	8904073	765	4146											
KIR3DL2	0	.	GRCh38	chr19	54865803	54865803	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggattcccatcttcctccAggtatctgcagacacctgca	8	12	7	14	0	2	1	0	0	2	1	5	2	5	2	4	2	2	3	4	2	1	4	rs113681719		C3L-00095_TP	C3L-00095_NB	A	A																c.1001-2A>C		p.X334_splice	ENST00000326321		192	175	17	265	265	0	strelka-varscan-mutect	KIR3DL2,splice_acceptor_variant,,ENST00000326321,NM_006737.3;KIR3DL1,splice_acceptor_variant,,ENST00000402254,;KIR3DL2,splice_acceptor_variant,,ENST00000270442,NM_001242867.1;RNU6-222P,downstream_gene_variant,,ENST00000362438,;	C	ENST00000326321	Transcript	splice_acceptor_variant	-/1877	1001/1368	334/455			rs113681719	1		1	KIR3DL2	HGNC	HGNC:6339	protein_coding	YES	CCDS12906.1	ENSP00000325525	P43630	A0A0U1WNF3	UPI000012DB25	NM_006737.3				6/8																		HIGH	1	SNV	1			1										PASS		rs113681719	.												C	5	2	10	54865803	54865803	A	C	1	0	0	0	0	0	0	1	0	8185	202	7	5		5	KIR3DL2	19	54865803	Splice_Site	SNP	A	C3L-00095_TP	5152260	54865803	3751813	766	4147											
NLRP8	0	.	GRCh38	chr19	55966335	55966335	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccaaagctgtgaagcttcTatgcagggtgctgagatccc	9	10	12	10	0	1	2	0	2	1	1	3	3	3	2	2	1	4	4	2	1	3	2	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.2336T>C	p.Leu779Pro	p.L779P	ENST00000291971	5/10	143	130	13	173	173	0	strelka-varscan-mutect	NLRP8,missense_variant,p.Leu779Pro,ENST00000291971,NM_176811.2;NLRP8,missense_variant,p.Leu779Pro,ENST00000590542,;	C	ENST00000291971	Transcript	missense_variant	2407/3934	2336/3147	779/1048	L/P	cTa/cCa		1		1	NLRP8	HGNC	HGNC:22940	protein_coding	YES	CCDS12937.1	ENSP00000291971	Q86W28		UPI00001BB3C9	NM_176811.2	deleterious(0)		5/10		hmmpanther:PTHR24106:SF54,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	10	55966335	55966335	T	C	1	0	0	0	0	1	0	0	0	10521	1522	53	5		5	NLRP8	19	55966335	Missense_Mutation	SNP	T	C3L-00095_TP	1100532	55966335	2651281	767	4148											
ZNF835	0	.	GRCh38	chr19	56664223	56664223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcgcctgtgtggatgcGccggtgctcggccagagagg	4	9	16	12	4	1	1	0	0	1	1	3	3	1	2	3	4	2	1	3	4	0	1			C3L-00095_TP	C3L-00095_NB	G	G																c.976C>A	p.Arg326Ser	p.R326S	ENST00000537055	2/2	199	188	11	301	301	0	strelka-varscan-mutect	ZNF835,missense_variant,p.Arg326Ser,ENST00000537055,NM_001005850.2;ZNF835,downstream_gene_variant,,ENST00000601659,;	T	ENST00000537055	Transcript	missense_variant	1208/3450	976/1614	326/537	R/S	Cgc/Agc	COSM4848175	1		-1	ZNF835	HGNC	HGNC:34332	protein_coding	YES	CCDS56105.1	ENSP00000444747	Q9Y2P0		UPI0000EE7244	NM_001005850.2	deleterious(0.03)		2/2		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF368,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	2		1	1										PASS		rs922601671	.												T	3	4	10	56664223	56664223	G	T	1	0	0	0	0	1	0	0	0	18771	1087	38	1		1	ZNF835	19	56664223	Missense_Mutation	SNP	G	C3L-00095_TP	697888	56664223	1953393	768	4149											
PEG3	0	.	GRCh38	chr19	56815448	56815448	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccattcatagtttctgctTccagagggcttctccctatc	7	14	7	13	0	3	1	1	0	2	1	6	2	4	1	3	1	1	3	3	1	2	6	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.2994A>T	p.=	p.G998G	ENST00000326441	10/10	103	95	8	114	114	0	strelka-varscan-mutect	PEG3,synonymous_variant,p.=,ENST00000326441,NM_001146186.1,NM_001146184.1,NM_006210.2;PEG3,synonymous_variant,p.=,ENST00000598410,NM_001146187.1;PEG3,synonymous_variant,p.=,ENST00000599534,;PEG3,synonymous_variant,p.=,ENST00000599577,;PEG3,synonymous_variant,p.=,ENST00000593695,NM_001146185.1;ZIM2,intron_variant,,ENST00000629319,NM_001146326.1,NM_001146327.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000593711,NM_015363.4;ZIM2,intron_variant,,ENST00000601070,;PEG3,downstream_gene_variant,,ENST00000600833,;PEG3,upstream_gene_variant,,ENST00000599565,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	A	ENST00000326441	Transcript	synonymous_variant	3358/8723	2994/4767	998/1588	G	ggA/ggT		1		-1	PEG3	HGNC	HGNC:8826	protein_coding	YES	CCDS12948.1	ENSP00000326581	Q9GZU2		UPI000006D36D	NM_001146186.1,NM_001146184.1,NM_006210.2			10/10																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	56815448	56815448	T	A	1	0	0	0	0	0	0	0	1	11808	1770	62	4		4	PEG3	19	56815448	Silent	SNP	T	C3L-00095_TP	151225	56815448	1802168	769	4150											
ZSCAN1	0	.	GRCh38	chr19	58053974	58053974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacccttccagtgtagcGtctgcgggaaggccttcccc	8	8	11	14	2	1	1	0	0	1	1	3	2	3	2	5	2	2	1	5	2	3	3	rs764113791		C3L-00095_TP	C3L-00095_NB	G	G																c.1150G>T	p.Val384Phe	p.V384F	ENST00000282326	6/6	43	39	4	64	64	0	strelka-mutect	ZSCAN1,missense_variant,p.Val384Phe,ENST00000282326,NM_182572.3;HNRNPDLP4,upstream_gene_variant,,ENST00000605144,;	T	ENST00000282326	Transcript	missense_variant	1397/2054	1150/1227	384/408	V/F	Gtc/Ttc	rs764113791,COSM88711	1		1	ZSCAN1	HGNC	HGNC:23712	protein_coding	YES	CCDS12969.1	ENSP00000282326	Q8NBB4		UPI000013DCD2	NM_182572.3	tolerated(0.12)		6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF187,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs764113791	.												T	3	4	10	58053974	58053974	G	T	1	0	0	0	0	1	0	0	0	18820	1145	40	1		1	ZSCAN1	19	58053974	Missense_Mutation	SNP	G	C3L-00095_TP	1238526	58053974	563642	770	4151											
SIRPB1	0	.	GRCh38	chr20	1571104	1571104	+	Missense_Mutation	SNP	A	A	T																															ttgcctggttctctgccctcAtgggctgttgagtaacctcc																								rs780249101		C3L-00095_TP	C3L-00095_NB	A	A																c.785T>A	p.Met262Lys	p.M262K	ENST00000381605	4/6	126	119	7	172	172	0	varscan-mutect	SIRPB1,missense_variant,p.Met262Lys,ENST00000381605,NM_006065.3;SIRPB1,missense_variant,p.Met76Lys,ENST00000565076,;SIRPB1,intron_variant,,ENST00000381603,NM_001083910.2;SIRPB1,intron_variant,,ENST00000262929,;RP4-576H24.4,intron_variant,,ENST00000564763,;SIRPB1,intron_variant,,ENST00000563840,;RP4-576H24.4,intron_variant,,ENST00000567028,;RP4-576H24.4,intron_variant,,ENST00000566961,;SIRPB1,intron_variant,,ENST00000569629,;	T	ENST00000381605	Transcript	missense_variant	850/3241	785/1197	262/398	M/K	aTg/aAg	rs780249101	1		-1	SIRPB1	HGNC	HGNC:15928	protein_coding	YES	CCDS13019.1	ENSP00000371018	O00241		UPI000036700F	NM_006065.3	tolerated(0.1)		4/6		Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF12,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs780249101	.												T	3	4	10	1571104	1571104	A	T	1	0	0	0	0	1	0	0	0	14596	217	8	4		4	SIRPB1	20	1571104	Missense_Mutation	SNP	A	C3L-00095_TP		1571104	62873063	771	4152	94	2									
SIRPB1	0	.	GRCh38	chr20	1571106	1571106	+	Silent	SNP	G	G	T																															gcctggttctctgccctcatGggctgttgagtaacctccaa																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.783C>A	p.=	p.P261P	ENST00000381605	4/6	122	115	7	171	171	0	varscan-mutect	SIRPB1,synonymous_variant,p.=,ENST00000381605,NM_006065.3;SIRPB1,synonymous_variant,p.=,ENST00000565076,;SIRPB1,intron_variant,,ENST00000381603,NM_001083910.2;SIRPB1,intron_variant,,ENST00000262929,;RP4-576H24.4,intron_variant,,ENST00000564763,;SIRPB1,intron_variant,,ENST00000563840,;RP4-576H24.4,intron_variant,,ENST00000567028,;RP4-576H24.4,intron_variant,,ENST00000566961,;SIRPB1,intron_variant,,ENST00000569629,;	T	ENST00000381605	Transcript	synonymous_variant	848/3241	783/1197	261/398	P	ccC/ccA		1		-1	SIRPB1	HGNC	HGNC:15928	protein_coding	YES	CCDS13019.1	ENSP00000371018	O00241		UPI000036700F	NM_006065.3			4/6		Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF12,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	1571106	1571106	G	T	1	0	0	0	0	0	0	0	1	14596	1335	47	2		2	SIRPB1	20	1571106	Silent	SNP	G	C3L-00095_TP	2	1571106	62873061	772	4153	94	2									
TGM3	0	.	GRCh38	chr20	2317142	2317142	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accggtggccgggacccaagGagctggaacggcagcgtgga	9	3	18	11	4	0	0	0	0	0	0	0	4	0	4	3	7	3	2	3	7	2	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.744G>A	p.=	p.R248R	ENST00000381458	6/13	291	269	22	296	296	0	strelka-varscan-mutect	TGM3,synonymous_variant,p.=,ENST00000381458,NM_003245.3;TGM3,non_coding_transcript_exon_variant,,ENST00000463090,;	A	ENST00000381458	Transcript	synonymous_variant	807/2642	744/2082	248/693	R	agG/agA		1		1	TGM3	HGNC	HGNC:11779	protein_coding	YES	CCDS33435.1	ENSP00000370867	Q08188		UPI0000136CCC	NM_003245.3			6/13		Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF36,Superfamily_domains:SSF54001																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	2317142	2317142	G	A	1	0	0	0	0	0	0	0	1	16264	1165	41	3		3	TGM3	20	2317142	Silent	SNP	G	C3L-00095_TP	746036	2317142	62127025	773	4154											
CFAP61	0	.	GRCh38	chr20	20277341	20277341	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggacgcgctaggagccgcCggagtcactatgtaccggga	8	5	16	12	6	1	0	1	0	0	0	1	4	1	4	3	4	2	2	3	4	3	3	rs772522238		C3L-00095_TP	C3L-00095_NB	C	C																c.2679C>A	p.=	p.A893A	ENST00000245957	22/27	156	147	9	211	211	0	strelka-varscan-mutect	CFAP61,synonymous_variant,p.=,ENST00000245957,NM_015585.3;CFAP61,intron_variant,,ENST00000488640,;CFAP61,synonymous_variant,p.=,ENST00000377308,;	A	ENST00000245957	Transcript	synonymous_variant	2755/4082	2679/3714	893/1237	A	gcC/gcA	rs772522238,COSM5486119	1		1	CFAP61	HGNC	HGNC:15872	protein_coding	YES	CCDS33447.1	ENSP00000245957	Q8NHU2		UPI0000206AE4	NM_015585.3			22/27		hmmpanther:PTHR21178,hmmpanther:PTHR21178:SF8											0,1						LOW	1	SNV	1		0,1	1										PASS		rs772522238	.												A	2	1	10	20277341	20277341	C	A	1	0	0	0	0	0	0	0	1	3028	639	23	1		1	CFAP61	20	20277341	Silent	SNP	C	C3L-00095_TP	17960199	20277341	44166826	774	4155											
KIZ	0	.	GRCh38	chr20	21132118	21132118	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaagagattggacctGgaaaagaaactttatgaata	20	8	10	3	0	0	4	0	1	0	3	0	8	0	6	1	2	1	0	1	2	9	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.111G>T	p.=	p.L37L	ENST00000619189	2/13	165	148	17	142	142	0	strelka-varscan-mutect	KIZ,synonymous_variant,p.=,ENST00000619189,NM_018474.4;KIZ,5_prime_UTR_variant,,ENST00000620891,NM_001163022.1;KIZ,5_prime_UTR_variant,,ENST00000616848,NM_001163023.1;KIZ,intron_variant,,ENST00000619574,NM_001276389.1;KIZ,intron_variant,,ENST00000611685,;KIZ,non_coding_transcript_exon_variant,,ENST00000620553,;KIZ,non_coding_transcript_exon_variant,,ENST00000622184,;KIZ,3_prime_UTR_variant,,ENST00000612654,;	T	ENST00000619189	Transcript	synonymous_variant	173/2130	111/2022	37/673	L	ctG/ctT		1		1	KIZ	HGNC	HGNC:15865	protein_coding	YES	CCDS74706.1	ENSP00000479542	Q2M2Z5		UPI0000E826A7	NM_018474.4			2/13		hmmpanther:PTHR16299,hmmpanther:PTHR16299:SF2																	LOW	1	SNV	1			1										PASS		rs1258765560	.												T	2	4	10	21132118	21132118	G	T	1	0	0	0	0	0	0	0	1	8195	1335	47	2		2	KIZ	20	21132118	Silent	SNP	G	C3L-00095_TP	854777	21132118	43312049	775	4156											
CST4	0	.	GRCh38	chr20	23688773	23688773	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcagcacctgcagcgggCgtctgtagtactcatcttcg	6	10	11	14	4	3	0	1	0	2	0	5	0	3	0	1	1	4	5	1	1	2	3	rs571931083		C3L-00095_TP	C3L-00095_NB	C	C																c.197G>C	p.Arg66Pro	p.R66P	ENST00000217423	1/3	183	167	16	249	249	0	strelka-varscan-mutect	CST4,missense_variant,p.Arg66Pro,ENST00000217423,NM_001899.2;	G	ENST00000217423	Transcript	missense_variant	268/751	197/426	66/141	R/P	cGc/cCc	rs571931083	1		-1	CST4	HGNC	HGNC:2476	protein_coding	YES	CCDS13159.1	ENSP00000217423	P01036		UPI0000049812	NM_001899.2	deleterious(0)		1/3		Gene3D:3.10.450.10,Pfam_domain:PF00031,hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF54,SMART_domains:SM00043,Superfamily_domains:SSF54403																	MODERATE	1	SNV	1			1										PASS		rs571931083	.												G	3	3	10	23688773	23688773	C	G	1	0	0	0	0	1	0	0	0	3774	768	27	4		4	CST4	20	23688773	Missense_Mutation	SNP	C	C3L-00095_TP	2556655	23688773	40755394	776	4157											
GGTLC1	0	.	GRCh38	chr20	23985240	23985240	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagccagcaggttccccaccTttcctggagtccgaggcagc	7	8	11	15	1	0	0	0	0	0	0	3	2	3	1	6	3	3	3	6	3	1	3	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.654A>C	p.Lys218Asn	p.K218N	ENST00000335694	6/6	484	457	27	624	624	0	varscan-mutect	GGTLC1,missense_variant,p.Lys218Asn,ENST00000335694,NM_178311.2;GGTLC1,missense_variant,p.Lys218Asn,ENST00000286890,;GGTLC1,missense_variant,p.Lys218Asn,ENST00000278765,NM_178312.2;POM121L3P,upstream_gene_variant,,ENST00000419331,;RP5-831C21.1,upstream_gene_variant,,ENST00000447582,;	G	ENST00000335694	Transcript	missense_variant	859/1046	654/678	218/225	K/N	aaA/aaC		1		-1	GGTLC1	HGNC	HGNC:16437	protein_coding	YES	CCDS13163.1	ENSP00000337587	Q9BX51		UPI0000073C4D	NM_178311.2	deleterious(0)		6/6		hmmpanther:PTHR11686:SF28,hmmpanther:PTHR11686,Pfam_domain:PF01019,Superfamily_domains:SSF56235																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	23985240	23985240	T	G	1	0	0	0	0	1	0	0	0	6242	1606	56	5		5	GGTLC1	20	23985240	Missense_Mutation	SNP	T	C3L-00095_TP	296467	23985240	40458927	777	4158											
BPIFB4	0	.	GRCh38	chr20	33086028	33086028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcctccagtcttattGgcttcctggacatcgcagta	6	13	9	13	1	1	0	0	0	1	0	5	1	4	1	4	3	0	3	4	3	2	4	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.790G>T	p.Gly264Cys	p.G264C	ENST00000375483	5/16	129	121	8	147	147	0	strelka-varscan-mutect	BPIFB4,missense_variant,p.Gly264Cys,ENST00000375483,NM_182519.2;BPIFB4,intron_variant,,ENST00000445356,;	T	ENST00000375483	Transcript	missense_variant	790/2159	790/1845	264/614	G/C	Ggc/Tgc		1		1	BPIFB4	HGNC	HGNC:16179	protein_coding	YES	CCDS13213.2	ENSP00000364632	P59827		UPI0000206190	NM_182519.2	deleterious(0)		5/16		Gene3D:1ewfA01,Pfam_domain:PF01273,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF78,SMART_domains:SM00328,Superfamily_domains:SSF55394																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	33086028	33086028	G	T	1	0	0	0	0	1	0	0	0	1660	1348	47	2		2	BPIFB4	20	33086028	Missense_Mutation	SNP	G	C3L-00095_TP	9100788	33086028	31358139	778	4159											
DLGAP4	0	.	GRCh38	chr20	36497013	36497013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggacgctgaccagctctGagtcccaccccgaggccgcc	8	4	12	17	3	1	2	0	2	1	0	2	4	2	3	6	2	1	2	6	2	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1957G>A	p.Glu653Lys	p.E653K	ENST00000373913	8/13	127	113	14	160	160	0	strelka-varscan-mutect	DLGAP4,missense_variant,p.Glu653Lys,ENST00000373913,NM_014902.5;DLGAP4,missense_variant,p.Glu653Lys,ENST00000339266,;DLGAP4,missense_variant,p.Glu653Lys,ENST00000401952,;DLGAP4,missense_variant,p.Glu653Lys,ENST00000373907,;DLGAP4,missense_variant,p.Glu114Lys,ENST00000340491,NM_183006.3;DLGAP4,5_prime_UTR_variant,,ENST00000475894,NM_001042486.3;DLGAP4,5_prime_UTR_variant,,ENST00000489701,;DLGAP4,5_prime_UTR_variant,,ENST00000482872,;DLGAP4,5_prime_UTR_variant,,ENST00000495241,;DLGAP4,non_coding_transcript_exon_variant,,ENST00000479951,;DLGAP4,non_coding_transcript_exon_variant,,ENST00000482037,;DLGAP4,non_coding_transcript_exon_variant,,ENST00000479220,;DLGAP4,non_coding_transcript_exon_variant,,ENST00000491207,;DLGAP4,upstream_gene_variant,,ENST00000497862,;DLGAP4,upstream_gene_variant,,ENST00000478910,;	A	ENST00000373913	Transcript	missense_variant	2437/5056	1957/2970	653/989	E/K	Gag/Aag		1		1	DLGAP4	HGNC	HGNC:24476	protein_coding	YES	CCDS13274.1	ENSP00000363023	Q9Y2H0		UPI000013D34B	NM_014902.5	tolerated(0.08)		8/13		Pfam_domain:PF03359,hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	36497013	36497013	G	A	1	0	0	0	0	1	0	0	0	4369	1291	45	3		3	DLGAP4	20	36497013	Missense_Mutation	SNP	G	C3L-00095_TP	3410985	36497013	27947154	779	4160											
SLC32A1	0	.	GRCh38	chr20	38728000	38728000	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatctccattggcatcatCgtgttcagctacacgtctca	8	12	6	15	2	4	0	3	0	2	0	7	0	4	0	2	1	2	3	2	1	1	3	rs758524437		C3L-00095_TP	C3L-00095_NB	C	C																c.939C>A	p.=	p.I313I	ENST00000217420	2/2	376	348	28	482	481	1	strelka-varscan-mutect	SLC32A1,synonymous_variant,p.=,ENST00000217420,NM_080552.2;	A	ENST00000217420	Transcript	synonymous_variant	1202/2574	939/1578	313/525	I	atC/atA	rs758524437	1		1	SLC32A1	HGNC	HGNC:11018	protein_coding	YES	CCDS13307.1	ENSP00000217420	Q9H598		UPI0000043423	NM_080552.2			2/2		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF221,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs758524437	.												A	2	1	10	38728000	38728000	C	A	1	0	0	0	0	0	0	0	1	14835	874	31	1		1	SLC32A1	20	38728000	Silent	SNP	C	C3L-00095_TP	2230987	38728000	25716167	780	4161											
SLC2A10	0	.	GRCh38	chr20	46725248	46725248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtggcttcctcattgactGctatggcaggaagcaagcca	9	10	12	10	0	1	1	1	1	0	0	2	2	2	2	2	4	3	4	2	4	3	3	rs377305511		C3L-00095_TP	C3L-00095_NB	G	G																c.212G>T	p.Cys71Phe	p.C71F	ENST00000359271	2/5	226	196	30	323	322	1	strelka-varscan-mutect	SLC2A10,missense_variant,p.Cys71Phe,ENST00000359271,NM_030777.3;SLC2A10,non_coding_transcript_exon_variant,,ENST00000611837,;	T	ENST00000359271	Transcript	missense_variant	462/4389	212/1626	71/541	C/F	tGc/tTc	rs377305511,COSM1196376	1		1	SLC2A10	HGNC	HGNC:13444	protein_coding	YES	CCDS13402.1	ENSP00000352216	O95528		UPI000012BC8D	NM_030777.3	deleterious(0)		2/5		PROSITE_profiles:PS50850,hmmpanther:PTHR23500,hmmpanther:PTHR23500:SF81,PROSITE_patterns:PS00216,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs377305511	.												T	3	4	10	46725248	46725248	G	T	1	0	0	0	0	1	0	0	0	14809	1319	46	2		2	SLC2A10	20	46725248	Missense_Mutation	SNP	G	C3L-00095_TP	7997248	46725248	17718919	781	4162											
BCAS1	0	.	GRCh38	chr20	53957441	53957441	+	Silent	SNP	G	G	T																															aggtcacttacttggcagctGgagtctttcccatttatttc																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1407C>A	p.=	p.S469S	ENST00000395961	10/12	216	201	15	254	254	0	strelka-varscan-mutect	BCAS1,synonymous_variant,p.=,ENST00000395961,NM_003657.2;BCAS1,synonymous_variant,p.=,ENST00000422805,;BCAS1,intron_variant,,ENST00000448484,;BCAS1,intron_variant,,ENST00000371435,NM_001316361.2,NM_001323347.1;	T	ENST00000395961	Transcript	synonymous_variant	1574/3303	1407/1755	469/584	S	tcC/tcA		1		-1	BCAS1	HGNC	HGNC:974	protein_coding	YES	CCDS13444.1	ENSP00000379290	O75363		UPI000013D2E2	NM_003657.2			10/12		hmmpanther:PTHR15016																	LOW	1	SNV	1			1										PASS		rs1248532228	.												T	2	4	10	53957441	53957441	G	T	1	0	0	0	0	0	0	0	1	1497	1335	47	2		2	BCAS1	20	53957441	Silent	SNP	G	C3L-00095_TP	7232193	53957441	10486726	782	4163	95	2									
BCAS1	0	.	GRCh38	chr20	53957442	53957442	+	Missense_Mutation	SNP	G	G	T																															ggtcacttacttggcagctgGagtctttcccatttatttct																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1406C>A	p.Ser469Tyr	p.S469Y	ENST00000395961	10/12	219	204	15	256	256	0	strelka-varscan-mutect	BCAS1,missense_variant,p.Ser469Tyr,ENST00000395961,NM_003657.2;BCAS1,missense_variant,p.Ser132Tyr,ENST00000422805,;BCAS1,intron_variant,,ENST00000448484,;BCAS1,intron_variant,,ENST00000371435,NM_001316361.2,NM_001323347.1;	T	ENST00000395961	Transcript	missense_variant	1573/3303	1406/1755	469/584	S/Y	tCc/tAc		1		-1	BCAS1	HGNC	HGNC:974	protein_coding	YES	CCDS13444.1	ENSP00000379290	O75363		UPI000013D2E2	NM_003657.2	deleterious(0.04)		10/12		hmmpanther:PTHR15016																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	53957442	53957442	G	T	1	0	0	0	0	1	0	0	0	1497	1174	41	2		2	BCAS1	20	53957442	Missense_Mutation	SNP	G	C3L-00095_TP	1	53957442	10486725	783	4164	95	2									
ZNF831	0	.	GRCh38	chr20	59191517	59191517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagcacatccggtcccaCacgggtgagaggcccttccc	9	5	12	15	2	0	2	0	1	0	2	3	4	3	2	4	3	1	1	4	3	1	1	rs759605825		C3L-00095_TP	C3L-00095_NB	C	C																c.498C>A	p.His166Gln	p.H166Q	ENST00000637017	4/8	200	188	12	265	265	0	strelka-varscan-mutect	ZNF831,missense_variant,p.His166Gln,ENST00000637017,;ZNF831,missense_variant,p.His166Gln,ENST00000371030,NM_178457.2;	A	ENST00000637017	Transcript	missense_variant	2047/10953	498/5034	166/1677	H/Q	caC/caA	rs759605825	1		1	ZNF831	HGNC	HGNC:16167	protein_coding	YES	CCDS42894.1	ENSP00000490240			UPI00001D82E4		deleterious(0)		4/8		PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV				1										PASS		rs759605825	.												A	3	1	10	59191517	59191517	C	A	1	0	0	0	0	1	0	0	0	18770	477	17	2		2	ZNF831	20	59191517	Missense_Mutation	SNP	C	C3L-00095_TP	5234075	59191517	5252650	784	4165											
ZNF831	0	.	GRCh38	chr20	59193891	59193891	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaccactgcccattcccTggggaccaaggcacagccag	9	6	9	17	0	0	0	0	0	0	0	1	1	1	1	6	3	3	1	6	3	2	2			C3L-00095_TP	C3L-00095_NB	T	T																c.2872T>A	p.Trp958Arg	p.W958R	ENST00000637017	4/8	105	96	9	120	120	0	strelka-varscan-mutect	ZNF831,missense_variant,p.Trp958Arg,ENST00000637017,;ZNF831,missense_variant,p.Trp958Arg,ENST00000371030,NM_178457.2;	A	ENST00000637017	Transcript	missense_variant	4421/10953	2872/5034	958/1677	W/R	Tgg/Agg	COSM5312422	1		1	ZNF831	HGNC	HGNC:16167	protein_coding	YES	CCDS42894.1	ENSP00000490240			UPI00001D82E4		tolerated(0.7)		4/8													1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	10	59193891	59193891	T	A	1	0	0	0	0	1	0	0	0	18770	1580	55	4		4	ZNF831	20	59193891	Missense_Mutation	SNP	T	C3L-00095_TP	2374	59193891	5250276	785	4166											
CDH4	0	.	GRCh38	chr20	61743648	61743648	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggggcagatgggacagtCttcgccacccgggagctgca	7	7	16	11	2	1	1	0	0	1	1	2	3	1	3	2	4	2	4	2	4	0	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.255C>A	p.=	p.V85V	ENST00000614565	3/16	383	352	31	475	475	0	strelka-varscan-mutect	CDH4,synonymous_variant,p.=,ENST00000614565,NM_001794.4;CDH4,synonymous_variant,p.=,ENST00000543233,NM_001252338.2,NM_001252339.2;CDH4,intron_variant,,ENST00000611855,;RP11-429E11.2,intron_variant,,ENST00000447909,;RP11-429E11.2,intron_variant,,ENST00000442888,;	A	ENST00000614565	Transcript	synonymous_variant	343/6513	255/2751	85/916	V	gtC/gtA		1		1	CDH4	HGNC	HGNC:1763	protein_coding	YES	CCDS13488.1	ENSP00000484928	P55283		UPI000015FE86	NM_001794.4			3/16		hmmpanther:PTHR24027:SF81,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF08758,SMART_domains:SM01055,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	61743648	61743648	C	A	1	0	0	0	0	0	0	0	1	2815	900	32	2		2	CDH4	20	61743648	Silent	SNP	C	C3L-00095_TP	2549757	61743648	2700519	786	4167											
OGFR	0	.	GRCh38	chr20	62812266	62812266	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccgcatcacacgcatcctCaagtcgctgggtgagctggg	7	8	12	14	3	2	1	2	1	0	0	5	1	4	1	2	2	1	4	2	2	1	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.651C>G	p.=	p.L217L	ENST00000290291	7/7	40	36	4	67	67	0	strelka-mutect	OGFR,synonymous_variant,p.=,ENST00000370461,;OGFR,synonymous_variant,p.=,ENST00000290291,NM_007346.2;OGFR,synonymous_variant,p.=,ENST00000621591,;COL9A3,upstream_gene_variant,,ENST00000343916,NM_001853.3;OGFR,downstream_gene_variant,,ENST00000450048,;COL9A3,upstream_gene_variant,,ENST00000477612,;	G	ENST00000290291	Transcript	synonymous_variant	676/2410	651/2034	217/677	L	ctC/ctG		1		1	OGFR	HGNC	HGNC:15768	protein_coding	YES	CCDS13504.1	ENSP00000290291	Q9NZT2		UPI000013F107	NM_007346.2			7/7		Pfam_domain:PF04664,hmmpanther:PTHR14015,hmmpanther:PTHR14015:SF1																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	10	62812266	62812266	C	G	1	0	0	0	0	0	0	0	1	10918	813	29	4		4	OGFR	20	62812266	Silent	SNP	C	C3L-00095_TP	1068618	62812266	1631901	787	4168											
CHRNA4	0	.	GRCh38	chr20	63350240	63350240	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgctcgtggcagggggctCcccttctggctcgggccaga	3	7	16	15	3	1	1	0	0	1	1	4	1	2	1	4	5	0	4	4	5	0	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1171G>T	p.Glu391Ter	p.E391*	ENST00000370263	5/6	174	162	12	214	214	0	varscan-mutect	CHRNA4,stop_gained,p.Glu320Ter,ENST00000615287,;CHRNA4,stop_gained,p.Glu391Ter,ENST00000370263,NM_001256573.1,NM_000744.6;CHRNA4,non_coding_transcript_exon_variant,,ENST00000463705,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000467563,;CHRNA4,downstream_gene_variant,,ENST00000628665,;CHRNA4,downstream_gene_variant,,ENST00000636652,;CHRNA4,downstream_gene_variant,,ENST00000637243,;CHRNA4,3_prime_UTR_variant,,ENST00000627000,;CHRNA4,3_prime_UTR_variant,,ENST00000498043,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000630240,;CHRNA4,upstream_gene_variant,,ENST00000631289,;	A	ENST00000370263	Transcript	stop_gained	1349/5577	1171/1884	391/627	E/*	Gag/Tag		1		-1	CHRNA4	HGNC	HGNC:1958	protein_coding	YES	CCDS13517.1	ENSP00000359285	P43681		UPI000012523B	NM_001256573.1,NM_000744.6			5/6		Pfam_domain:PF02932,Superfamily_domains:SSF90112																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	10	63350240	63350240	C	A	1	0	0	0	0	0	1	0	0	3145	864	30	2		2	CHRNA4	20	63350240	Nonsense_Mutation	SNP	C	C3L-00095_TP	537974	63350240	1093927	788	4169											
HELZ2	0	.	GRCh38	chr20	63572158	63572158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggggtggggaacggtgctcCcagggcagggcctggtcgaa	6	5	21	9	2	0	0	0	0	0	0	2	2	1	1	2	8	2	2	2	8	2	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.228G>T	p.Trp76Cys	p.W76C	ENST00000467148	1/19	174	164	10	231	230	1	strelka-varscan-mutect	HELZ2,missense_variant,p.Trp76Cys,ENST00000467148,NM_001037335.2;HELZ2,upstream_gene_variant,,ENST00000427522,NM_033405.3;HELZ2,non_coding_transcript_exon_variant,,ENST00000479540,;HELZ2,upstream_gene_variant,,ENST00000454223,;HELZ2,non_coding_transcript_exon_variant,,ENST00000370082,;	A	ENST00000467148	Transcript	missense_variant	298/8064	228/7950	76/2649	W/C	tgG/tgT		1		-1	HELZ2	HGNC	HGNC:30021	protein_coding	YES	CCDS33508.1	ENSP00000417401	Q9BYK8		UPI0000246BF7	NM_001037335.2	tolerated(0.07)		1/19		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF376																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	63572158	63572158	C	A	1	0	0	0	0	1	0	0	0	6932	624	22	2		2	HELZ2	20	63572158	Missense_Mutation	SNP	C	C3L-00095_TP	221918	63572158	872009	789	4170											
LTN1	0	.	GRCh38	chr21	28931183	28931183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatggaattttttcttgCatgttctacaggcttttttg	7	20	8	6	0	2	1	0	1	2	0	2	2	2	2	0	2	2	3	0	2	3	9	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.5348G>T	p.Cys1783Phe	p.C1783F	ENST00000614971	29/30	103	97	6	99	98	1	strelka-mutect	LTN1,missense_variant,p.Cys1783Phe,ENST00000614971,NM_015565.2;LTN1,missense_variant,p.Cys1783Phe,ENST00000389194,;LTN1,missense_variant,p.Cys1737Phe,ENST00000361371,;	A	ENST00000614971	Transcript	missense_variant	5361/7756	5348/5439	1783/1812	C/F	tGc/tTc		1		-1	LTN1	HGNC	HGNC:13082	protein_coding	YES	CCDS33527.2	ENSP00000478783	O94822		UPI000049DF6C	NM_015565.2	deleterious(0)		29/30		Gene3D:3.30.40.10,Pfam_domain:PF13639,PROSITE_profiles:PS50089,hmmpanther:PTHR12389,SMART_domains:SM00744,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		rs1317028095	.												A	3	1	10	28931183	28931183	C	A	1	0	0	0	0	1	0	0	0	8987	710	25	2		2	LTN1	21	28931183	Missense_Mutation	SNP	C	C3L-00095_TP		28931183	17778800	790	4171											
KRTAP6-2	0	.	GRCh38	chr21	30598759	30598759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccgtagccatgaccatagCcacagcaggagctatagcca	13	5	10	13	1	0	1	0	1	0	0	0	2	0	2	5	1	6	3	5	1	4	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.116G>T	p.Gly39Val	p.G39V	ENST00000334897	1/1	223	205	18	244	244	0	strelka-mutect	KRTAP6-2,missense_variant,p.Gly39Val,ENST00000334897,NM_181604.1;KRTAP22-1,upstream_gene_variant,,ENST00000334680,NM_181620.1;	A	ENST00000334897	Transcript	missense_variant	144/313	116/189	39/62	G/V	gGc/gTc		1		-1	KRTAP6-2	HGNC	HGNC:18932	protein_coding	YES	CCDS13600.1	ENSP00000334560	Q3LI66		UPI00001A9E59	NM_181604.1			1/1		Pfam_domain:PF11759,hmmpanther:PTHR31678,hmmpanther:PTHR31678:SF3,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	10	30598759	30598759	C	A	1	0	0	0	0	1	0	0	0	8465	739	26	2		2	KRTAP6-2	21	30598759	Missense_Mutation	SNP	C	C3L-00095_TP	1667576	30598759	16111224	791	4172											
TIAM1	0	.	GRCh38	chr21	31245542	31245542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagaagacaaagtccttCttggggtgctcaggcaccgc	10	7	13	11	1	2	2	1	0	1	2	3	2	3	2	2	4	1	3	2	4	2	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1530G>T	p.Lys510Asn	p.K510N	ENST00000286827	7/29	70	64	6	85	84	1	strelka-mutect	TIAM1,missense_variant,p.Lys510Asn,ENST00000286827,NM_003253.2;TIAM1,missense_variant,p.Lys510Asn,ENST00000541036,;TIAM1,non_coding_transcript_exon_variant,,ENST00000469412,;	A	ENST00000286827	Transcript	missense_variant	2002/7200	1530/4776	510/1591	K/N	aaG/aaT		1		-1	TIAM1	HGNC	HGNC:11805	protein_coding	YES	CCDS13609.1	ENSP00000286827	Q13009		UPI000013DE6F	NM_003253.2	deleterious(0.01)		7/29		PROSITE_profiles:PS50003,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF88,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	31245542	31245542	C	A	1	0	0	0	0	1	0	0	0	16324	912	32	2		2	TIAM1	21	31245542	Missense_Mutation	SNP	C	C3L-00095_TP	646783	31245542	15464441	792	4173											
URB1	0	.	GRCh38	chr21	32350800	32350800	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtggcatggtggcctgCagctgcacctggatgtgctc	5	10	16	10	0	0	0	0	0	0	0	1	1	0	1	2	5	4	5	2	5	0	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2736G>T	p.=	p.L912L	ENST00000382751	20/39	366	341	25	446	446	0	strelka-varscan-mutect	URB1,synonymous_variant,p.=,ENST00000382751,NM_014825.2;	A	ENST00000382751	Transcript	synonymous_variant	2852/10832	2736/6816	912/2271	L	ctG/ctT		1		-1	URB1	HGNC	HGNC:17344	protein_coding	YES	CCDS46645.1	ENSP00000372199	O60287		UPI0000185F65	NM_014825.2			20/39		hmmpanther:PTHR13500																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	32350800	32350800	C	A	1	0	0	0	0	0	0	0	1	17554	697	25	2		2	URB1	21	32350800	Silent	SNP	C	C3L-00095_TP	1105258	32350800	14359183	793	4174											
PAXBP1	0	.	GRCh38	chr21	32759199	32759199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaatagccctggtagagtCcactcggctttgcagatgtt	8	13	10	10	1	1	2	1	0	0	2	3	2	2	2	2	2	2	4	2	2	3	5	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1264G>T	p.Asp422Tyr	p.D422Y	ENST00000331923	7/18	252	221	31	308	308	0	strelka-varscan-mutect	PAXBP1,missense_variant,p.Asp422Tyr,ENST00000331923,NM_016631.3;PAXBP1,missense_variant,p.Asp422Tyr,ENST00000290178,NM_013329.3;PAXBP1,non_coding_transcript_exon_variant,,ENST00000472588,;PAXBP1,missense_variant,p.Asp422Tyr,ENST00000443785,;PAXBP1,upstream_gene_variant,,ENST00000466846,;PAXBP1,downstream_gene_variant,,ENST00000464256,;PAXBP1,upstream_gene_variant,,ENST00000421049,;	A	ENST00000331923	Transcript	missense_variant	1454/3995	1264/2754	422/917	D/Y	Gac/Tac		1		-1	PAXBP1	HGNC	HGNC:13579	protein_coding	YES	CCDS13619.1	ENSP00000328992	Q9Y5B6		UPI000012B294	NM_016631.3	deleterious(0.03)		7/18		hmmpanther:PTHR12214:SF2,hmmpanther:PTHR12214																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	32759199	32759199	C	A	1	0	0	0	0	1	0	0	0	11572	855	30	2		2	PAXBP1	21	32759199	Missense_Mutation	SNP	C	C3L-00095_TP	408399	32759199	13950784	794	4175											
RCAN1	0	.	GRCh38	chr21	34614902	34614902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtccgcctcggccgcccccGagaggggcgcgaagggccgc	4	2	17	18	8	0	1	0	0	0	1	2	3	1	1	6	4	0	0	6	4	1	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.110C>T	p.Ser37Leu	p.S37L	ENST00000313806	1/4	221	204	17	279	279	0	strelka-varscan-mutect	RCAN1,missense_variant,p.Ser37Leu,ENST00000313806,NM_004414.6;RCAN1,upstream_gene_variant,,ENST00000443408,NM_203417.2;RCAN1,upstream_gene_variant,,ENST00000399272,NM_001285389.2;RCAN1,non_coding_transcript_exon_variant,,ENST00000463276,;RCAN1,upstream_gene_variant,,ENST00000489903,;	A	ENST00000313806	Transcript	missense_variant	241/2490	110/759	37/252	S/L	tCg/tTg		1		-1	RCAN1	HGNC	HGNC:3040	protein_coding		CCDS13637.1	ENSP00000320768	P53805		UPI00001B4EA7	NM_004414.6	deleterious(0.04)		1/4		hmmpanther:PTHR10300:SF4,hmmpanther:PTHR10300																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	34614902	34614902	G	A	1	0	0	0	0	1	0	0	0	13337	1059	37	1		1	RCAN1	21	34614902	Missense_Mutation	SNP	G	C3L-00095_TP	1855703	34614902	12095081	795	4176											
CLDN14	0	.	GRCh38	chr21	36461487	36461487	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttggggcagcgccagcAgggatcggtagatctggcac	7	7	17	10	2	2	1	0	0	2	1	3	2	2	2	1	6	2	4	1	6	1	2	rs767565332		C3L-00095_TP	C3L-00095_NB	A	A																c.209T>A	p.Leu70Gln	p.L70Q	ENST00000399137	3/3	515	466	49	610	610	0	strelka-varscan-mutect	CLDN14,missense_variant,p.Leu70Gln,ENST00000399137,NM_144492.2;CLDN14,missense_variant,p.Leu70Gln,ENST00000399135,NM_001146079.1;CLDN14,missense_variant,p.Leu70Gln,ENST00000342108,NM_001146077.1;CLDN14,missense_variant,p.Leu70Gln,ENST00000399136,NM_001146078.2;CLDN14,missense_variant,p.Leu70Gln,ENST00000399139,NM_012130.3;AP000695.6,intron_variant,,ENST00000429588,;AP000695.4,intron_variant,,ENST00000428667,;AP000695.4,downstream_gene_variant,,ENST00000454980,;	T	ENST00000399137	Transcript	missense_variant	1076/1942	209/720	70/239	L/Q	cTg/cAg	rs767565332	1		-1	CLDN14	HGNC	HGNC:2035	protein_coding	YES	CCDS13645.1	ENSP00000382090	O95500		UPI0000048F0B	NM_144492.2	tolerated(0.21)		3/3		hmmpanther:PTHR12002:SF99,hmmpanther:PTHR12002,Pfam_domain:PF00822,Prints_domain:PR01385																	MODERATE	1	SNV	1			1										PASS		rs767565332	.												T	3	4	10	36461487	36461487	A	T	1	0	0	0	0	1	0	0	0	3239	188	7	4		4	CLDN14	21	36461487	Missense_Mutation	SNP	A	C3L-00095_TP	1846585	36461487	10248496	796	4177											
B3GALT5	0	.	GRCh38	chr21	39661102	39661102	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacaaccaggtttttcacTggcttcttgaaactcaatga	13	12	7	9	0	3	3	2	2	1	1	3	3	3	3	1	2	3	2	1	2	4	4	rs768724281		C3L-00095_TP	C3L-00095_NB	T	T																c.555T>A	p.=	p.T185T	ENST00000398714	2/2	198	179	19	202	202	0	strelka-varscan-mutect	B3GALT5,synonymous_variant,p.=,ENST00000380620,;B3GALT5,synonymous_variant,p.=,ENST00000380618,NM_006057.2,NM_033170.2,NM_033171.2;B3GALT5,synonymous_variant,p.=,ENST00000615480,NM_001278650.1;B3GALT5,synonymous_variant,p.=,ENST00000343118,;B3GALT5,synonymous_variant,p.=,ENST00000398714,NM_033172.2;AF064860.5,intron_variant,,ENST00000416555,;	A	ENST00000398714	Transcript	synonymous_variant	555/2341	555/945	185/314	T	acT/acA	rs768724281	1		1	B3GALT5	HGNC	HGNC:920	protein_coding	YES	CCDS74795.1	ENSP00000381699		A0A0A0MS93	UPI000354A018	NM_033172.2			2/2		hmmpanther:PTHR11214:SF18,hmmpanther:PTHR11214,Pfam_domain:PF01762																	LOW		SNV	5			1										PASS		rs768724281	.												A	2	1	10	39661102	39661102	T	A	1	0	0	0	0	0	0	0	1	1407	1567	55	4		4	B3GALT5	21	39661102	Silent	SNP	T	C3L-00095_TP	3199615	39661102	7048881	797	4178											
DSCAM	0	.	GRCh38	chr21	40080297	40080297	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggggctgattggaaaactCccccactgctcactattgtc	8	11	9	13	0	1	1	1	1	0	0	3	2	2	2	2	3	2	2	2	3	3	3			C3L-00095_TP	C3L-00095_NB	C	C																c.4275G>T	p.=	p.G1425G	ENST00000400454	25/33	71	66	5	73	73	0	strelka-varscan-mutect	DSCAM,synonymous_variant,p.=,ENST00000400454,NM_001389.3,NM_001271534.1;DSCAM,synonymous_variant,p.=,ENST00000617870,;DSCAM,synonymous_variant,p.=,ENST00000404019,;	A	ENST00000400454	Transcript	synonymous_variant	4753/8552	4275/6039	1425/2012	G	ggG/ggT	COSM5392906	1		-1	DSCAM	HGNC	HGNC:3039	protein_coding	YES	CCDS42929.1	ENSP00000383303	O60469		UPI00000422DF	NM_001389.3,NM_001271534.1			25/33		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	10	40080297	40080297	C	A	1	0	0	0	0	0	0	0	1	4589	842	30	2		2	DSCAM	21	40080297	Silent	SNP	C	C3L-00095_TP	419195	40080297	6629686	798	4179											
MCM3AP	0	.	GRCh38	chr21	46260857	46260857	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgttccatcagctccacggCcaggccctggctcagctcac	6	7	10	18	2	3	0	3	0	0	0	5	0	5	0	4	3	2	4	4	3	0	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.3517G>T	p.Ala1173Ser	p.A1173S	ENST00000397708	16/29	292	270	22	366	366	0	strelka-varscan-mutect	MCM3AP,missense_variant,p.Ala1173Ser,ENST00000397708,;MCM3AP,missense_variant,p.Ala1173Ser,ENST00000291688,NM_003906.4;MCM3AP-AS1,downstream_gene_variant,,ENST00000590829,;MCM3AP,upstream_gene_variant,,ENST00000467026,;MCM3AP,upstream_gene_variant,,ENST00000481113,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000486937,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000496607,;MCM3AP,upstream_gene_variant,,ENST00000494755,;	A	ENST00000397708	Transcript	missense_variant	3772/6333	3517/5943	1173/1980	A/S	Gcc/Tcc		1		-1	MCM3AP	HGNC	HGNC:6946	protein_coding	YES	CCDS13734.1	ENSP00000380820	O60318		UPI000012ED4A		tolerated(0.18)		16/29		hmmpanther:PTHR12436:SF3,hmmpanther:PTHR12436,Pfam_domain:PF16766																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	46260857	46260857	C	A	1	0	0	0	0	1	0	0	0	9320	739	26	2		2	MCM3AP	21	46260857	Missense_Mutation	SNP	C	C3L-00095_TP	6180560	46260857	449126	799	4180											
CABIN1	0	.	GRCh38	chr22	24171869	24171869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcgccctgcactagctGccgccacaactattatcacc	9	8	6	18	2	1	0	1	0	0	0	2	0	1	0	5	0	5	2	5	0	4	3	rs751498073		C3L-00095_TP	C3L-00095_NB	G	G																c.5914G>T	p.Ala1972Ser	p.A1972S	ENST00000398319	34/37	342	320	22	473	472	1	strelka-varscan-mutect	CABIN1,missense_variant,p.Ala1972Ser,ENST00000398319,NM_001199281.1;CABIN1,missense_variant,p.Ala1972Ser,ENST00000263119,NM_012295.3;CABIN1,missense_variant,p.Ala1922Ser,ENST00000617531,NM_001201429.1;CABIN1,missense_variant,p.Ala1893Ser,ENST00000405822,;CABIN1,missense_variant,p.Ala397Ser,ENST00000337989,;CABIN1,non_coding_transcript_exon_variant,,ENST00000485008,;CABIN1,upstream_gene_variant,,ENST00000459824,;	T	ENST00000398319	Transcript	missense_variant	6299/7480	5914/6663	1972/2220	A/S	Gcc/Tcc	rs751498073	1		1	CABIN1	HGNC	HGNC:24187	protein_coding	YES	CCDS13823.1	ENSP00000381364	Q9Y6J0	A0A024R1E5	UPI0000126D6C	NM_001199281.1	tolerated_low_confidence(0.83)		34/37		hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7																	MODERATE	1	SNV	1			1										PASS		rs751498073	.												T	3	4	10	24171869	24171869	G	T	1	0	0	0	0	1	0	0	0	2214	1319	46	2		2	CABIN1	22	24171869	Missense_Mutation	SNP	G	C3L-00095_TP		24171869	26646599	800	4181											
MTMR3	0	.	GRCh38	chr22	29978455	29978455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccaggatgaagagactcGgcacagccttgagtgcatcc	10	9	11	11	1	0	3	0	2	0	1	3	5	2	4	3	2	2	2	3	2	1	2	rs765053016		C3L-00095_TP	C3L-00095_NB	G	G																c.17G>T	p.Arg6Leu	p.R6L	ENST00000401950	4/20	220	208	12	241	241	0	strelka-varscan-mutect	MTMR3,missense_variant,p.Arg6Leu,ENST00000333027,NM_153050.2;MTMR3,missense_variant,p.Arg6Leu,ENST00000401950,NM_021090.3;MTMR3,missense_variant,p.Arg6Leu,ENST00000351488,NM_153051.2;MTMR3,missense_variant,p.Arg6Leu,ENST00000406629,;MTMR3,missense_variant,p.Arg6Leu,ENST00000445401,;MTMR3,5_prime_UTR_variant,,ENST00000323630,;RP3-394A18.1,downstream_gene_variant,,ENST00000624945,;MTMR3,non_coding_transcript_exon_variant,,ENST00000415511,;MTMR3,non_coding_transcript_exon_variant,,ENST00000495098,;MTMR3,non_coding_transcript_exon_variant,,ENST00000480776,;	T	ENST00000401950	Transcript	missense_variant	359/6018	17/3597	6/1198	R/L	cGg/cTg	rs765053016	1		1	MTMR3	HGNC	HGNC:7451	protein_coding	YES	CCDS13870.1	ENSP00000384651	Q13615		UPI0000073EF2	NM_021090.3	tolerated(0.12)		4/20		hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF66																	MODERATE	1	SNV	1			1										PASS		rs765053016	.												T	3	4	10	29978455	29978455	G	T	1	0	0	0	0	1	0	0	0	9932	1116	39	1		1	MTMR3	22	29978455	Missense_Mutation	SNP	G	C3L-00095_TP	5806586	29978455	20840013	801	4182											
DEPDC5	0	.	GRCh38	chr22	31810526	31810526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttgtgtatttcagctctcGggagtccaaaagaatctgag	11	13	10	7	1	3	2	1	1	2	1	5	3	4	3	1	1	1	2	1	1	4	3	rs201394709		C3L-00095_TP	C3L-00095_NB	G	G																c.1330G>T	p.Gly444Trp	p.G444W	ENST00000400246	20/43	194	184	10	245	245	0	strelka-varscan-mutect	DEPDC5,missense_variant,p.Gly444Trp,ENST00000400246,NM_001242896.1;DEPDC5,missense_variant,p.Gly444Trp,ENST00000400249,;DEPDC5,missense_variant,p.Gly444Trp,ENST00000382112,NM_001136029.2;DEPDC5,missense_variant,p.Gly444Trp,ENST00000400248,NM_014662.4;DEPDC5,missense_variant,p.Gly444Trp,ENST00000382111,;DEPDC5,missense_variant,p.Gly444Trp,ENST00000535622,NM_001242897.1;DEPDC5,missense_variant,p.Gly444Trp,ENST00000400242,NM_001007188.2;	T	ENST00000400246	Transcript	missense_variant	1532/5551	1330/4812	444/1603	G/W	Ggg/Tgg	rs201394709	1		1	DEPDC5	HGNC	HGNC:18423	protein_coding	YES	CCDS74849.1	ENSP00000383105	O75140		UPI000192C426	NM_001242896.1	deleterious(0.02)		20/43		hmmpanther:PTHR13179																	MODERATE	1	SNV	1			1										PASS		rs201394709	.												T	3	4	10	31810526	31810526	G	T	1	0	0	0	0	1	0	0	0	4248	1130	39	1		1	DEPDC5	22	31810526	Missense_Mutation	SNP	G	C3L-00095_TP	1832071	31810526	19007942	802	4183											
CSF2RB	0	.	GRCh38	chr22	36932854	36932854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatgcgatacgaacacAtagaccacacatttgagatc	17	8	7	9	2	0	3	0	2	0	2	1	6	0	3	1	0	3	0	1	0	5	3	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.1102A>G	p.Ile368Val	p.I368V	ENST00000403662	9/14	273	254	19	357	357	0	strelka-varscan-mutect	CSF2RB,missense_variant,p.Ile368Val,ENST00000403662,NM_000395.2;CSF2RB,missense_variant,p.Ile368Val,ENST00000262825,;CSF2RB,missense_variant,p.Ile374Val,ENST00000406230,;CSF2RB,downstream_gene_variant,,ENST00000421539,;	G	ENST00000403662	Transcript	missense_variant	1324/4863	1102/2694	368/897	I/V	Ata/Gta		1		1	CSF2RB	HGNC	HGNC:2436	protein_coding	YES	CCDS13936.1	ENSP00000384053	P32927		UPI0000128C9F	NM_000395.2	deleterious(0.05)		9/14		PROSITE_profiles:PS50853,hmmpanther:PTHR23037:SF22,hmmpanther:PTHR23037,Gene3D:2.60.40.10,PIRSF_domain:PIRSF001956,Pfam_domain:PF09294,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	10	36932854	36932854	A	G	1	0	0	0	0	1	0	0	0	3736	217	8	5		5	CSF2RB	22	36932854	Missense_Mutation	SNP	A	C3L-00095_TP	5122328	36932854	13885614	803	4184											
SEPT3	0	.	GRCh38	chr22	41991638	41991638	+	Frame_Shift_Del	DEL	G	G	-																															aaggaatttgatgaggatttGgaggataagacggagaatga																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.736delG	p.Glu246ArgfsTer27	p.E246Rfs*27	ENST00000396426	7/11	257	239	18	340	340	0	sindel-varindel-pindel	SEPT3,frameshift_variant,p.Glu246ArgfsTer27,ENST00000396425,NM_019106.5;SEPT3,frameshift_variant,p.Glu246ArgfsTer27,ENST00000396426,NM_145733.2;SEPT3,frameshift_variant,p.Glu182ArgfsTer27,ENST00000406029,;SEPT3,downstream_gene_variant,,ENST00000449288,;SEPT3,3_prime_UTR_variant,,ENST00000396417,;SEPT3,downstream_gene_variant,,ENST00000460267,;	-	ENST00000396426	Transcript	frameshift_variant	990/2586	735/1077	245/358	L/X	ttG/tt		1		1	SEPT3	HGNC	HGNC:10750	protein_coding	YES	CCDS14026.2	ENSP00000379704	Q9UH03		UPI000067DA91	NM_145733.2			7/11		Pfam_domain:PF00735,PIRSF_domain:PIRSF006698,Prints_domain:PR01741,PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF62,Superfamily_domains:SSF52540																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	10	41991638	41991638	G	-	1	0	1	0	1	0	0	0	0	14341	1339	47	0		0	SEPT3	22	41991638	Frame_Shift_Del	DEL	G	C3L-00095_TP	5058784	41991638	8826830	804	4185											
TCF20	0	.	GRCh38	chr22	42211155	42211155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcttcaaagacagtataTcatcaagcgtaaccgtgtct	13	11	6	11	2	5	1	3	0	2	1	5	1	5	1	1	0	2	2	1	0	5	4	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.4151A>G	p.Asp1384Gly	p.D1384G	ENST00000359486	1/5	229	216	13	280	280	0	strelka-varscan-mutect	TCF20,missense_variant,p.Asp1384Gly,ENST00000359486,NM_005650.2;TCF20,missense_variant,p.Asp1384Gly,ENST00000335626,NM_181492.2;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;	C	ENST00000359486	Transcript	missense_variant	4288/7410	4151/5883	1384/1960	D/G	gAt/gGt		1		-1	TCF20	HGNC	HGNC:11631	protein_coding	YES	CCDS14033.1	ENSP00000352463	Q9UGU0	W5ZR30	UPI00001A95D9	NM_005650.2	tolerated(0.07)		1/5		hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	42211155	42211155	T	C	1	0	0	0	0	1	0	0	0	16097	1435	50	5		5	TCF20	22	42211155	Missense_Mutation	SNP	T	C3L-00095_TP	219517	42211155	8607313	805	4186											
PARVB	0	.	GRCh38	chr22	44132958	44132958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctctggccatgcacttcagGgcccccatccgccttcctga	5	10	8	18	1	2	1	1	1	1	0	5	1	4	1	6	2	1	1	6	2	0	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.681G>T	p.Arg227Ser	p.R227S	ENST00000406477	7/14	178	163	15	187	186	1	strelka-varscan-mutect	PARVB,missense_variant,p.Arg194Ser,ENST00000338758,NM_013327.4;PARVB,missense_variant,p.Arg157Ser,ENST00000404989,NM_001243385.1;PARVB,missense_variant,p.Arg227Ser,ENST00000406477,NM_001003828.2;PARVB,missense_variant,p.Arg142Ser,ENST00000619710,NM_001243386.1;PARVB,missense_variant,p.Arg192Ser,ENST00000444029,;PARVB,upstream_gene_variant,,ENST00000495824,;	T	ENST00000406477	Transcript	missense_variant	811/1569	681/1194	227/397	R/S	agG/agT		1		1	PARVB	HGNC	HGNC:14653	protein_coding	YES	CCDS46724.1	ENSP00000384515	Q9HBI1		UPI000041A256	NM_001003828.2	tolerated(0.05)		7/14		Gene3D:1.10.418.10,Pfam_domain:PF00307,PIRSF_domain:PIRSF039131,PROSITE_profiles:PS50021,hmmpanther:PTHR12114,hmmpanther:PTHR12114:SF7,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	44132958	44132958	G	T	1	0	0	0	0	1	0	0	0	11550	1223	43	2		2	PARVB	22	44132958	Missense_Mutation	SNP	G	C3L-00095_TP	1921803	44132958	6685510	806	4187											
PHF21B	0	.	GRCh38	chr22	44893480	44893480	+	Missense_Mutation	SNP	A	A	T																															ggtctccaggaggccgctgtAggcagggttggctgtgcttc																										C3L-00095_TP	C3L-00095_NB	A	A																c.937T>A	p.Tyr313Asn	p.Y313N	ENST00000313237	7/13	191	174	17	228	228	0	strelka-varscan-mutect	PHF21B,missense_variant,p.Tyr313Asn,ENST00000313237,NM_138415.4;PHF21B,missense_variant,p.Tyr109Asn,ENST00000403565,NM_001284296.1;PHF21B,missense_variant,p.Tyr259Asn,ENST00000396103,NM_001242450.1;PHF21B,missense_variant,p.Tyr271Asn,ENST00000629843,NM_001135862.2;PHF21B,missense_variant,p.Tyr109Asn,ENST00000414269,;	T	ENST00000313237	Transcript	missense_variant	1088/3671	937/1596	313/531	Y/N	Tac/Aac	COSM4628042	1		-1	PHF21B	HGNC	HGNC:25161	protein_coding	YES	CCDS14061.1	ENSP00000324403	Q96EK2	A0A0S2Z6R3	UPI0000072111	NM_138415.4	deleterious(0)		7/13		hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF18											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	10	44893480	44893480	A	T	1	0	0	0	0	1	0	0	0	11920	420	15	4		4	PHF21B	22	44893480	Missense_Mutation	SNP	A	C3L-00095_TP	760522	44893480	5924988	807	4188	96	2									
PHF21B	0	.	GRCh38	chr22	44893482	44893482	+	Missense_Mutation	SNP	G	G	T																															tctccaggaggccgctgtagGcagggttggctgtgcttctt																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.935C>A	p.Ala312Asp	p.A312D	ENST00000313237	7/13	187	168	19	230	230	0	strelka-varscan-mutect	PHF21B,missense_variant,p.Ala312Asp,ENST00000313237,NM_138415.4;PHF21B,missense_variant,p.Ala108Asp,ENST00000403565,NM_001284296.1;PHF21B,missense_variant,p.Ala258Asp,ENST00000396103,NM_001242450.1;PHF21B,missense_variant,p.Ala270Asp,ENST00000629843,NM_001135862.2;PHF21B,missense_variant,p.Ala108Asp,ENST00000414269,;	T	ENST00000313237	Transcript	missense_variant	1086/3671	935/1596	312/531	A/D	gCc/gAc		1		-1	PHF21B	HGNC	HGNC:25161	protein_coding	YES	CCDS14061.1	ENSP00000324403	Q96EK2	A0A0S2Z6R3	UPI0000072111	NM_138415.4	deleterious(0.01)		7/13		hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	44893482	44893482	G	T	1	0	0	0	0	1	0	0	0	11920	1203	42	2		2	PHF21B	22	44893482	Missense_Mutation	SNP	G	C3L-00095_TP	2	44893482	5924986	808	4189	96	2									
PLXNB2	0	.	GRCh38	chr22	50281102	50281102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctacctgtgaattccttCttgcagcggtcccgcacgct	5	12	8	16	3	1	1	0	1	1	0	4	1	4	1	4	1	3	3	4	1	2	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.3750G>T	p.Lys1250Asn	p.K1250N	ENST00000449103	23/37	195	176	19	243	243	0	strelka-mutect	PLXNB2,missense_variant,p.Lys1250Asn,ENST00000449103,;PLXNB2,missense_variant,p.Lys1250Asn,ENST00000359337,NM_012401.3;PLXNB2,5_prime_UTR_variant,,ENST00000610984,;PLXNB2,intron_variant,,ENST00000411680,;PLXNB2,upstream_gene_variant,,ENST00000614805,;PLXNB2,downstream_gene_variant,,ENST00000427829,;PLXNB2,downstream_gene_variant,,ENST00000434732,;PLXNB2,downstream_gene_variant,,ENST00000496720,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000479701,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000463165,;PLXNB2,upstream_gene_variant,,ENST00000479818,;PLXNB2,downstream_gene_variant,,ENST00000492578,;	A	ENST00000449103	Transcript	missense_variant	3891/6383	3750/5517	1250/1838	K/N	aaG/aaT		1		-1	PLXNB2	HGNC	HGNC:9104	protein_coding	YES	CCDS43035.1	ENSP00000409171	O15031		UPI000003812D		deleterious(0)		23/37		hmmpanther:PTHR22625:SF9,hmmpanther:PTHR22625																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	10	50281102	50281102	C	A	1	0	0	0	0	1	0	0	0	12230	912	32	2		2	PLXNB2	22	50281102	Missense_Mutation	SNP	C	C3L-00095_TP	5387620	50281102	537366	809	4190											
PPP2R3B	0	.	GRCh38	chrX	386544	386544	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgggctgctccccgtcccCcggggtcggctggtcccgcc	0	6	14	21	5	0	0	0	0	0	0	4	0	3	0	7	5	1	3	7	5	0	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.148G>T	p.Gly50Trp	p.G50W	ENST00000390665	1/13	99	92	7	122	121	1	strelka-varscan-mutect	PPP2R3B,missense_variant,p.Gly50Trp,ENST00000390665,NM_013239.4;RP13-465B17.4,upstream_gene_variant,,ENST00000627721,;Metazoa_SRP,downstream_gene_variant,,ENST00000610676,;PPP2R3B,non_coding_transcript_exon_variant,,ENST00000445792,;	A	ENST00000390665	Transcript	missense_variant	167/2151	148/1728	50/575	G/W	Ggg/Tgg		1		-1	PPP2R3B	HGNC	HGNC:13417	protein_coding	YES	CCDS14104.1	ENSP00000375080	Q9Y5P8		UPI00001BB8B8	NM_013239.4	deleterious(0)		1/13		hmmpanther:PTHR14095:SF1,hmmpanther:PTHR14095																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	386544	386544	C	A	1	0	0	0	0	1	0	0	0	12512	623	22	2		2	PPP2R3B	23	386544	Missense_Mutation	SNP	C	C3L-00095_TP		386544	155654351	810	4191											
ARSF	0	.	GRCh38	chrX	3103889	3103889	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatattttaccaactgtCgcatcagtgtcaggaggaag	12	11	11	7	1	2	0	2	0	0	0	3	3	2	3	1	3	2	1	1	3	4	3	rs201866054		C3L-00095_TP	C3L-00095_NB	C	C																c.1230C>A	p.=	p.V410V	ENST00000381127	9/11	75	67	8	102	102	0	strelka-varscan-mutect	ARSF,synonymous_variant,p.=,ENST00000381127,NM_001201538.1,NM_001201539.1;ARSF,synonymous_variant,p.=,ENST00000359361,NM_004042.4;	A	ENST00000381127	Transcript	synonymous_variant	1451/2164	1230/1773	410/590	V	gtC/gtA	rs201866054	1		1	ARSF	HGNC	HGNC:721	protein_coding	YES	CCDS14123.1	ENSP00000370519	P54793		UPI00001A9629	NM_001201538.1,NM_001201539.1			9/11		hmmpanther:PTHR10342:SF220,hmmpanther:PTHR10342,Gene3D:3.40.720.10,Pfam_domain:PF00884,Superfamily_domains:SSF53649																	LOW	1	SNV	1			1										PASS		rs201866054	.												A	2	1	10	3103889	3103889	C	A	1	0	0	0	0	0	0	0	1	1134	871	31	1		1	ARSF	23	3103889	Silent	SNP	C	C3L-00095_TP	2717345	3103889	152937006	811	4192											
MXRA5	0	.	GRCh38	chrX	3322272	3322272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgctcatggtggatgacGgagcaactttttgccttggt	7	13	14	7	1	1	1	1	1	0	0	1	4	1	3	1	4	4	2	1	4	1	3	rs140078324		C3L-00095_TP	C3L-00095_NB	G	G																c.3413C>A	p.Pro1138Gln	p.P1138Q	ENST00000217939	5/7	34	30	4	40	40	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Pro1138Gln,ENST00000217939,NM_015419.3;	T	ENST00000217939	Transcript	missense_variant	3568/9793	3413/8487	1138/2828	P/Q	cCg/cAg	rs140078324	1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	tolerated(0.06)		5/7		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF680																	MODERATE	1	SNV	5			1										PASS		rs140078324	.												T	3	4	10	3322272	3322272	G	T	1	0	0	0	0	1	0	0	0	10002	1116	39	1		1	MXRA5	23	3322272	Missense_Mutation	SNP	G	C3L-00095_TP	218383	3322272	152718623	812	4193											
ARHGAP6	0	.	GRCh38	chrX	11179332	11179332	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgaaagctgtgtacagctCcctggtgagaagggggtctg	9	9	16	7	0	1	2	0	2	1	1	2	4	2	2	1	3	3	3	1	3	3	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1450G>T	p.Glu484Ter	p.E484*	ENST00000337414	7/13	64	51	13	76	76	0	strelka-varscan-mutect	ARHGAP6,stop_gained,p.Glu484Ter,ENST00000337414,NM_013427.2;ARHGAP6,stop_gained,p.Glu281Ter,ENST00000303025,NM_013423.2;ARHGAP6,stop_gained,p.Glu281Ter,ENST00000380736,NM_001287242.1;ARHGAP6,stop_gained,p.Glu484Ter,ENST00000380718,NM_006125.2;ARHGAP6,stop_gained,p.Glu320Ter,ENST00000380717,;ARHGAP6,non_coding_transcript_exon_variant,,ENST00000491514,;ARHGAP6,stop_gained,p.Glu516Ter,ENST00000495242,;ARHGAP6,non_coding_transcript_exon_variant,,ENST00000489330,;	A	ENST00000337414	Transcript	stop_gained	2323/5117	1450/2925	484/974	E/*	Gag/Tag		1		-1	ARHGAP6	HGNC	HGNC:676	protein_coding	YES	CCDS14140.1	ENSP00000338967	O43182		UPI00001AED54	NM_013427.2			7/13		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR12635,hmmpanther:PTHR12635:SF6,SMART_domains:SM00324,Superfamily_domains:SSF48350																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	10	11179332	11179332	C	A	1	0	0	0	0	0	1	0	0	1017	864	30	2		2	ARHGAP6	23	11179332	Nonsense_Mutation	SNP	C	C3L-00095_TP	7857060	11179332	144861563	813	4194											
BEND2	0	.	GRCh38	chrX	18177677	18177677	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacaaaatacgaaccaagtAgcaggctgcttgcttaggtt	14	9	10	8	1	0	0	0	0	0	0	0	2	0	0	1	2	6	6	1	2	8	5	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.1522T>A	p.Tyr508Asn	p.Y508N	ENST00000380033	10/14	211	194	17	263	263	0	strelka-varscan-mutect	BEND2,missense_variant,p.Tyr508Asn,ENST00000380033,NM_153346.4;BEND2,missense_variant,p.Tyr417Asn,ENST00000380030,NM_001184767.1;	T	ENST00000380033	Transcript	missense_variant	1655/4611	1522/2400	508/799	Y/N	Tac/Aac		1		-1	BEND2	HGNC	HGNC:28509	protein_coding	YES	CCDS14184.1	ENSP00000369372	Q8NDZ0		UPI000013FE0F	NM_153346.4	deleterious(0)		10/14		PROSITE_profiles:PS51457,Pfam_domain:PF10523,SMART_domains:SM01025																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	18177677	18177677	A	T	1	0	0	0	0	1	0	0	0	1546	420	15	4		4	BEND2	23	18177677	Missense_Mutation	SNP	A	C3L-00095_TP	6998345	18177677	137863218	814	4195											
KLHL34	0	.	GRCh38	chrX	21656255	21656255	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaaacgtgcggtgcccaTgggtgccttcttgctccaaa	7	9	11	14	3	1	0	0	0	1	0	2	1	2	0	4	2	5	1	4	2	2	2	rs767421393		C3L-00095_TP	C3L-00095_NB	T	T																c.1534A>T	p.Met512Leu	p.M512L	ENST00000379499	1/1	75	67	8	85	85	0	strelka-varscan-mutect	KLHL34,missense_variant,p.Met512Leu,ENST00000379499,NM_153270.2;CNKSR2,downstream_gene_variant,,ENST00000425654,NM_001168647.1;CNKSR2,downstream_gene_variant,,ENST00000379510,NM_014927.3;	A	ENST00000379499	Transcript	missense_variant	2076/3641	1534/1935	512/644	M/L	Atg/Ttg	rs767421393	1		-1	KLHL34	HGNC	HGNC:26634	protein_coding	YES	CCDS14199.1	ENSP00000368813	Q8N239		UPI0000072CC4	NM_153270.2	tolerated(0.1)		1/1		Superfamily_domains:0052715,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF199,SMART_domains:SM00612																	MODERATE		SNV				1										PASS		rs767421393	.												A	3	1	10	21656255	21656255	T	A	1	0	0	0	0	1	0	0	0	8253	1464	51	4		4	KLHL34	23	21656255	Missense_Mutation	SNP	T	C3L-00095_TP	3478578	21656255	134384640	815	4196											
PTCHD1	0	.	GRCh38	chrX	23392973	23392973	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagagtcacctattggtatgTttcctcaaacgctattactg	10	14	8	9	1	2	1	2	0	0	1	3	2	3	1	2	1	2	3	2	1	5	6	novel		C3L-00095_TP	C3L-00095_NB	T	T																c.1455T>A	p.Cys485Ter	p.C485*	ENST00000379361	3/3	203	185	18	247	246	1	strelka-varscan-mutect	PTCHD1,stop_gained,p.Cys485Ter,ENST00000379361,NM_173495.2;PTCHD1,3_prime_UTR_variant,,ENST00000456522,;	A	ENST00000379361	Transcript	stop_gained	2315/13714	1455/2667	485/888	C/*	tgT/tgA		1		1	PTCHD1	HGNC	HGNC:26392	protein_coding	YES	CCDS35215.2	ENSP00000368666	Q96NR3	X5DNX9	UPI000059DAD8	NM_173495.2			3/3		Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF36																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	10	23392973	23392973	T	A	1	0	0	0	0	0	1	0	0	12885	1731	60	4		4	PTCHD1	23	23392973	Nonsense_Mutation	SNP	T	C3L-00095_TP	1736718	23392973	132647922	816	4197											
MAGEB18	0	.	GRCh38	chrX	26139097	26139097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtggcagaaggagagtcaCcctcccctgcctatcttctc	7	10	9	15	0	3	2	1	0	2	2	5	3	4	2	4	2	1	1	4	2	2	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.112C>A	p.Pro38Thr	p.P38T	ENST00000325250	2/3	149	140	9	165	165	0	strelka-varscan-mutect	MAGEB18,missense_variant,p.Pro38Thr,ENST00000325250,NM_173699.3;	A	ENST00000325250	Transcript	missense_variant	299/1811	112/1032	38/343	P/T	Ccc/Acc		1		1	MAGEB18	HGNC	HGNC:28515	protein_coding	YES	CCDS14216.1	ENSP00000314543	Q96M61		UPI00001415E3	NM_173699.3	tolerated(0.23)		2/3		hmmpanther:PTHR11736:SF23,hmmpanther:PTHR11736,Pfam_domain:PF12440,SMART_domains:SM01392																	MODERATE	1	SNV	1			1										PASS		rs1381649903	.												A	3	1	10	26139097	26139097	C	A	1	0	0	0	0	1	0	0	0	9091	507	18	2		2	MAGEB18	23	26139097	Missense_Mutation	SNP	C	C3L-00095_TP	2746124	26139097	129901798	817	4198											
DMD	0	.	GRCh38	chrX	32573575	32573575	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcattttgatctttaaaGccagttgtgtgaatcttgtt	9	20	7	5	0	3	2	1	2	2	0	3	2	3	2	1	0	1	2	1	0	3	8	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1767C>A	p.=	p.G589G	ENST00000357033	15/79	196	176	20	155	155	0	strelka-varscan-mutect	DMD,synonymous_variant,p.=,ENST00000357033,NM_000109.3,NM_004006.2;DMD,synonymous_variant,p.=,ENST00000378677,NM_004010.3,NM_004009.3;DMD,synonymous_variant,p.=,ENST00000620040,;DMD,synonymous_variant,p.=,ENST00000619831,;DMD,synonymous_variant,p.=,ENST00000288447,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,downstream_gene_variant,,ENST00000447523,;DMD,intron_variant,,ENST00000488902,;DMD,downstream_gene_variant,,ENST00000480751,;	T	ENST00000357033	Transcript	synonymous_variant	1974/13956	1767/11058	589/3685	G	ggC/ggA		1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2			15/79		hmmpanther:PTHR11915:SF261,hmmpanther:PTHR11915,PIRSF_domain:PIRSF002341,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	32573575	32573575	G	T	1	0	0	0	0	0	0	0	1	4387	958	34	2		2	DMD	23	32573575	Silent	SNP	G	C3L-00095_TP	6434478	32573575	123467320	818	4199											
FAM47A	0	.	GRCh38	chrX	34131623	34131623	+	Frame_Shift_Del	DEL	G	G	-																															ccgggcggagactggacaccGgagtcttgggaggctccggg																								rs750698635		C3L-00095_TP	C3L-00095_NB	G	G																c.656delC	p.Pro219ArgfsTer47	p.P219Rfs*47	ENST00000346193	1/1	81	72	9	167	167	0	sindel-varindel-pindel	FAM47A,frameshift_variant,p.Pro219ArgfsTer47,ENST00000346193,NM_203408.3;FAM47A,frameshift_variant,p.Pro219ArgfsTer47,ENST00000613251,;	-	ENST00000346193	Transcript	frameshift_variant	689/2556	656/2376	219/791	P/X	cCg/cg	rs750698635,COSM123010	1		-1	FAM47A	HGNC	HGNC:29962	protein_coding	YES	CCDS43926.1	ENSP00000345029	Q5JRC9		UPI000013F1F4	NM_203408.3			1/1		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF200,Pfam_domain:PF14642											0,1						HIGH	1	deletion			0,1	1										PASS		.	.												-	7	5	10	34131623	34131623	G	-	1	0	1	0	1	0	0	0	0	5447	1116	39	0		0	FAM47A	23	34131623	Frame_Shift_Del	DEL	G	C3L-00095_TP	1558048	34131623	121909272	819	4200											
FAM47A	0	.	GRCh38	chrX	34131679	34131679	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagtctcgggaggctctggGaggagatgggacaccggagt	8	6	18	9	2	2	1	0	0	2	1	3	6	2	5	2	6	0	1	2	6	0	0	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.600C>A	p.=	p.L200L	ENST00000346193	1/1	72	64	8	119	119	0	strelka-varscan-mutect	FAM47A,synonymous_variant,p.=,ENST00000346193,NM_203408.3;FAM47A,synonymous_variant,p.=,ENST00000613251,;	T	ENST00000346193	Transcript	synonymous_variant	633/2556	600/2376	200/791	L	ctC/ctA		1		-1	FAM47A	HGNC	HGNC:29962	protein_coding	YES	CCDS43926.1	ENSP00000345029	Q5JRC9		UPI000013F1F4	NM_203408.3			1/1		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF200,Pfam_domain:PF14642																	LOW	1	SNV				1										PASS		.	.												T	2	4	10	34131679	34131679	G	T	1	0	0	0	0	0	0	0	1	5447	1161	41	2		2	FAM47A	23	34131679	Silent	SNP	G	C3L-00095_TP	56	34131679	121909216	820	4201											
SRPX	0	.	GRCh38	chrX	38164854	38164854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgttgggttctgcaatgcGttccttcacacttgggcact	5	16	10	10	1	2	0	1	0	1	0	3	0	3	0	1	2	2	5	1	2	1	6	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.568C>A	p.Arg190Ser	p.R190S	ENST00000378533	5/10	108	102	6	134	134	0	strelka-varscan-mutect	SRPX,missense_variant,p.Arg190Ser,ENST00000378533,NM_006307.4;SRPX,missense_variant,p.Arg170Ser,ENST00000544439,NM_001170750.1;SRPX,missense_variant,p.Arg190Ser,ENST00000538295,NM_001170752.1;SRPX,missense_variant,p.Arg131Ser,ENST00000432886,NM_001170751.1;RP5-972B16.2,intron_variant,,ENST00000465127,;SRPX,upstream_gene_variant,,ENST00000479015,;	T	ENST00000378533	Transcript	missense_variant	675/1874	568/1395	190/464	R/S	Cgc/Agc		1		-1	SRPX	HGNC	HGNC:11309	protein_coding	YES	CCDS14245.1	ENSP00000367794	P78539		UPI0000135F5C	NM_006307.4	deleterious(0.03)		5/10		PROSITE_profiles:PS50825,hmmpanther:PTHR19325:SF375,hmmpanther:PTHR19325,Pfam_domain:PF02494																	MODERATE	1	SNV	1			1										PASS		rs1245921366	.												T	3	4	10	38164854	38164854	G	T	1	0	0	0	0	1	0	0	0	15525	1145	40	1		1	SRPX	23	38164854	Missense_Mutation	SNP	G	C3L-00095_TP	4033175	38164854	117876041	821	4202											
RBM10	0	.	GRCh38	chrX	47171134	47171134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccgagacggcgactatcGggaccaggactatcggaccg	9	4	13	15	6	0	1	0	0	0	1	2	6	0	4	4	4	0	0	4	4	2	2	rs782467531		C3L-00095_TP	C3L-00095_NB	G	G																c.503G>T	p.Arg168Leu	p.R168L	ENST00000329236	4/24	238	210	28	307	307	0	strelka-varscan-mutect	RBM10,missense_variant,p.Arg103Leu,ENST00000377604,NM_005676.4,NM_001204467.1;RBM10,missense_variant,p.Arg168Leu,ENST00000329236,NM_001204468.1;RBM10,intron_variant,,ENST00000345781,NM_001204466.1;RBM10,intron_variant,,ENST00000628161,NM_152856.2;RBM10,upstream_gene_variant,,ENST00000496012,;	T	ENST00000329236	Transcript	missense_variant	503/3201	503/2988	168/995	R/L	cGg/cTg	rs782467531	1		1	RBM10	HGNC	HGNC:9896	protein_coding	YES	CCDS75969.1	ENSP00000328848		A0A0A0MR66	UPI0000211F0E	NM_001204468.1	tolerated(0.06)		4/24		Gene3D:3.30.70.330,hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF4																	MODERATE	1	SNV	1			1										PASS		rs782467531	.												T	3	4	10	47171134	47171134	G	T	1	0	0	0	0	1	0	0	0	13277	1116	39	1		1	RBM10	23	47171134	Missense_Mutation	SNP	G	C3L-00095_TP	9006280	47171134	108869761	822	4203											
KDM5C	0	.	GRCh38	chrX	53211531	53211531	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtgccgtttactgtcaCtgacagggaaaccgctgcca	9	10	11	11	2	1	1	1	1	0	0	1	2	1	2	3	2	4	2	3	2	3	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1367G>T	p.Ser456Ile	p.S456I	ENST00000375401	10/26	158	140	18	191	191	0	strelka-varscan-mutect	KDM5C,missense_variant,p.Ser389Ile,ENST00000452825,NM_001146702.1;KDM5C,missense_variant,p.Ser456Ile,ENST00000375401,NM_004187.3;KDM5C,missense_variant,p.Ser455Ile,ENST00000404049,NM_001282622.1;KDM5C,missense_variant,p.Ser456Ile,ENST00000375379,;KDM5C,missense_variant,p.Ser415Ile,ENST00000375383,;KDM5C-IT1,downstream_gene_variant,,ENST00000412242,;KDM5C,upstream_gene_variant,,ENST00000465402,;KDM5C,non_coding_transcript_exon_variant,,ENST00000497100,;KDM5C,downstream_gene_variant,,ENST00000497995,;	A	ENST00000375401	Transcript	missense_variant	1900/6031	1367/4683	456/1560	S/I	aGt/aTt		1		-1	KDM5C	HGNC	HGNC:11114	protein_coding	YES	CCDS14351.1	ENSP00000364550	P41229		UPI000013CBE3	NM_004187.3	deleterious(0.04)		10/26		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF43																	MODERATE	1	SNV	1			1										PASS		rs1418726370	.												A	3	1	10	53211531	53211531	C	A	1	0	0	0	0	1	0	0	0	8053	565	20	2		2	KDM5C	23	53211531	Missense_Mutation	SNP	C	C3L-00095_TP	6040397	53211531	102829364	823	4204											
ITIH6	0	.	GRCh38	chrX	54751344	54751344	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttgtggcccggccttGgtggtgcgccaagcagcttc	3	10	15	13	2	0	0	0	0	0	0	2	0	1	0	4	5	3	2	4	5	1	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.3389C>G	p.Pro1130Arg	p.P1130R	ENST00000218436	12/13	51	44	7	87	87	0	strelka-varscan-mutect	ITIH6,missense_variant,p.Pro1130Arg,ENST00000218436,NM_198510.2;	C	ENST00000218436	Transcript	missense_variant	3419/4968	3389/3942	1130/1313	P/R	cCa/cGa		1		-1	ITIH6	HGNC	HGNC:28907	protein_coding	YES	CCDS14361.1	ENSP00000218436	Q6UXX5		UPI00000540C8	NM_198510.2	deleterious(0)		12/13		Pfam_domain:PF06668,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF10																	MODERATE	1	SNV	1			1										PASS		rs1394050572	.												C	3	2	10	54751344	54751344	G	C	1	0	0	0	0	1	0	0	0	7814	1348	47	4		4	ITIH6	23	54751344	Missense_Mutation	SNP	G	C3L-00095_TP	1539813	54751344	101289551	824	4205											
ITIH6	0	.	GRCh38	chrX	54758981	54758981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcagctgccagcagagCtgagttgacgtctgtcccta	9	9	12	11	1	1	4	0	3	1	1	2	4	2	4	2	0	5	5	2	0	2	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1093G>A	p.Ala365Thr	p.A365T	ENST00000218436	8/13	16	13	3	21	21	0	strelka-mutect	ITIH6,missense_variant,p.Ala365Thr,ENST00000218436,NM_198510.2;	T	ENST00000218436	Transcript	missense_variant	1123/4968	1093/3942	365/1313	A/T	Gct/Act		1		-1	ITIH6	HGNC	HGNC:28907	protein_coding	YES	CCDS14361.1	ENSP00000218436	Q6UXX5		UPI00000540C8	NM_198510.2	deleterious(0)		8/13		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF10,Low_complexity_(Seg):seg,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	54758981	54758981	C	T	1	0	0	0	0	1	0	0	0	7814	797	28	3		3	ITIH6	23	54758981	Missense_Mutation	SNP	C	C3L-00095_TP	7637	54758981	101281914	825	4206											
ZC3H12B	0	.	GRCh38	chrX	65502768	65502768	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccatcctggggcaaccccCcagccaggccgtgccctggt	6	6	11	18	1	0	0	0	0	0	0	2	0	2	0	8	4	3	1	8	4	1	0	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.2070C>A	p.=	p.P690P	ENST00000338957	5/5	59	46	13	62	62	0	strelka-varscan-mutect	ZC3H12B,synonymous_variant,p.=,ENST00000338957,NM_001010888.3;ZC3H12B,downstream_gene_variant,,ENST00000617377,;	A	ENST00000338957	Transcript	synonymous_variant	2137/7256	2070/2511	690/836	P	ccC/ccA		1		1	ZC3H12B	HGNC	HGNC:17407	protein_coding	YES	CCDS48131.2	ENSP00000340839	Q5HYM0		UPI00001D7BEA	NM_001010888.3			5/5		hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF27																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	10	65502768	65502768	C	A	1	0	0	0	0	0	0	0	1	18137	610	22	2		2	ZC3H12B	23	65502768	Silent	SNP	C	C3L-00095_TP	10743787	65502768	90538127	826	4207											
HEPH	0	.	GRCh38	chrX	66207265	66207265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaagaaagctgtattcaggGaatacactgatggtacattc	15	10	9	7	0	1	2	1	1	0	1	2	3	1	3	0	2	3	3	0	2	6	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.2524G>A	p.Glu842Lys	p.E842K	ENST00000519389	14/21	130	112	18	140	140	0	strelka-varscan-mutect	HEPH,missense_variant,p.Glu842Lys,ENST00000519389,NM_138737.4;HEPH,missense_variant,p.Glu788Lys,ENST00000343002,;HEPH,missense_variant,p.Glu791Lys,ENST00000441993,NM_001130860.3;HEPH,missense_variant,p.Glu521Lys,ENST00000336279,NM_014799.3;HEPH,missense_variant,p.Glu599Lys,ENST00000419594,NM_001282141.1;HEPH,missense_variant,p.Glu745Lys,ENST00000425114,;HEPH,non_coding_transcript_exon_variant,,ENST00000471121,;	A	ENST00000519389	Transcript	missense_variant	2703/6013	2524/3639	842/1212	E/K	Gaa/Aaa		1		1	HEPH	HGNC	HGNC:4866	protein_coding	YES	CCDS14384.3	ENSP00000430620	Q9BQS7		UPI0001C06560	NM_138737.4	deleterious(0.01)		14/21		hmmpanther:PTHR10127:SF622,hmmpanther:PTHR10127,Gene3D:2.60.40.420,Superfamily_domains:SSF49503																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	10	66207265	66207265	G	A	1	0	0	0	0	1	0	0	0	6938	1175	41	3		3	HEPH	23	66207265	Missense_Mutation	SNP	G	C3L-00095_TP	704497	66207265	89833630	827	4208											
EDA2R	0	.	GRCh38	chrX	66599627	66599627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagctctgtgcattcgatggGgctgtggacccagtgggagt	6	10	16	9	1	1	0	0	0	1	0	2	3	1	2	1	4	2	3	1	4	0	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.814C>A	p.Pro272Thr	p.P272T	ENST00000396050	6/7	72	57	15	108	108	0	strelka-mutect	EDA2R,missense_variant,p.Pro251Thr,ENST00000451436,NM_001199687.2;EDA2R,missense_variant,p.Pro272Thr,ENST00000396050,NM_001242310.1;EDA2R,missense_variant,p.Pro251Thr,ENST00000374719,NM_001324206.1,NM_021783.3;EDA2R,missense_variant,p.Pro272Thr,ENST00000253392,;	T	ENST00000396050	Transcript	missense_variant	824/3429	814/957	272/318	P/T	Ccc/Acc		1		-1	EDA2R	HGNC	HGNC:17756	protein_coding	YES	CCDS56603.1	ENSP00000379365	Q9HAV5		UPI00001B037F	NM_001242310.1	deleterious(0)		6/7		hmmpanther:PTHR12120:SF8,hmmpanther:PTHR12120,Prints_domain:PR01973																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	10	66599627	66599627	G	T	1	0	0	0	0	1	0	0	0	4732	1232	43	2		2	EDA2R	23	66599627	Missense_Mutation	SNP	G	C3L-00095_TP	392362	66599627	89441268	828	4209											
DGAT2L6	0	.	GRCh38	chrX	70204425	70204425	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggacacattcaaaaaaatCctgggactaaatttctgtac	16	10	6	9	0	2	0	1	0	1	0	3	2	3	2	1	2	1	1	1	2	6	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.768C>A	p.=	p.I256I	ENST00000333026	6/7	192	172	20	223	222	1	strelka-varscan-mutect	DGAT2L6,synonymous_variant,p.=,ENST00000333026,NM_198512.2;	A	ENST00000333026	Transcript	synonymous_variant	868/1553	768/1014	256/337	I	atC/atA		1		1	DGAT2L6	HGNC	HGNC:23250	protein_coding	YES	CCDS14397.1	ENSP00000328036	Q6ZPD8		UPI00001C10BF	NM_198512.2			6/7		Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF19																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	10	70204425	70204425	C	A	1	0	0	0	0	0	0	0	1	4266	845	30	2		2	DGAT2L6	23	70204425	Silent	SNP	C	C3L-00095_TP	3604798	70204425	85836470	829	4210											
SATL1	0	.	GRCh38	chrX	85108179	85108179	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accaagtaagcttgggcttgGctggattatacctgtttggt	8	14	12	7	0	0	0	0	0	0	0	0	1	0	1	2	4	2	5	2	4	4	6			C3L-00095_TP	C3L-00095_NB	G	G																c.790C>G	p.Pro264Ala	p.P264A	ENST00000509231	1/5	253	213	40	326	326	0	strelka-varscan-mutect	SATL1,missense_variant,p.Pro264Ala,ENST00000509231,NM_001012980.2;SATL1,missense_variant,p.Pro77Ala,ENST00000395409,;	C	ENST00000509231	Transcript	missense_variant	870/2224	790/1899	264/632	P/A	Cca/Gca	COSM4387114,COSM4387115	1		-1	SATL1	HGNC	HGNC:27992	protein_coding	YES	CCDS35343.2	ENSP00000425421	Q86VE3		UPI000041ABBC	NM_001012980.2	tolerated(0.05)		1/5													1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	10	85108179	85108179	G	C	1	0	0	0	0	1	0	0	0	14116	1203	42	4		4	SATL1	23	85108179	Missense_Mutation	SNP	G	C3L-00095_TP	14903754	85108179	70932716	830	4211											
PCDH11X	0	.	GRCh38	chrX	91835521	91835521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtatggacttgttgtccgGgacgtacattttcgcggtcc	5	14	13	9	4	0	0	0	0	0	0	3	2	2	2	2	4	1	3	2	4	2	6			C3L-00095_TP	C3L-00095_NB	G	G																c.17G>T	p.Gly6Val	p.G6V	ENST00000373094	1/7	215	195	20	264	263	1	varscan-mutect	PCDH11X,missense_variant,p.Gly6Val,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Gly6Val,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Gly6Val,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Gly6Val,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Gly6Val,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Gly6Val,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Gly6Val,ENST00000395337,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000298274,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000361724,;	T	ENST00000373094	Transcript	missense_variant	862/9179	17/4044	6/1347	G/V	gGg/gTg	COSM1151737,COSM758172,COSM758173	1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4	deleterious(0.01)		1/7		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF25,Cleavage_site_(Signalp):SignalP-noTM											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	10	91835521	91835521	G	T	1	0	0	0	0	1	0	0	0	11595	1232	43	2		2	PCDH11X	23	91835521	Missense_Mutation	SNP	G	C3L-00095_TP	6727342	91835521	64205374	831	4212											
PCDH11X	0	.	GRCh38	chrX	91835556	91835556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggtcctgctagcatgcgtgGtgttccactctggcgcccag	4	10	13	14	3	1	0	0	0	1	0	3	0	3	0	3	3	3	3	3	3	1	2	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.52G>T	p.Val18Leu	p.V18L	ENST00000373094	1/7	242	212	30	296	296	0	strelka-varscan-mutect	PCDH11X,missense_variant,p.Val18Leu,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Val18Leu,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Val18Leu,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Val18Leu,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Val18Leu,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Val18Leu,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Val18Leu,ENST00000395337,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000298274,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000361724,;	T	ENST00000373094	Transcript	missense_variant	897/9179	52/4044	18/1347	V/L	Gtg/Ttg		1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4	tolerated(0.28)		1/7		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF25,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	91835556	91835556	G	T	1	0	0	0	0	1	0	0	0	11595	1261	44	2		2	PCDH11X	23	91835556	Missense_Mutation	SNP	G	C3L-00095_TP	35	91835556	64205339	832	4213											
DIAPH2	0	.	GRCh38	chrX	96942043	96942043	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatattataaaataattgagGaatgtgtttcacagatagtg	17	14	8	2	0	1	2	1	1	0	1	1	3	1	3	0	1	0	1	0	1	8	7	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1351G>T	p.Glu451Ter	p.E451*	ENST00000324765	13/27	74	64	10	87	87	0	strelka-mutect	DIAPH2,stop_gained,p.Glu451Ter,ENST00000324765,NM_006729.4;DIAPH2,stop_gained,p.Glu451Ter,ENST00000373061,;DIAPH2,stop_gained,p.Glu451Ter,ENST00000355827,;DIAPH2,stop_gained,p.Glu451Ter,ENST00000373049,NM_007309.3;DIAPH2,stop_gained,p.Glu458Ter,ENST00000373054,;	T	ENST00000324765	Transcript	stop_gained	1698/9333	1351/3306	451/1101	E/*	Gaa/Taa		1		1	DIAPH2	HGNC	HGNC:2877	protein_coding	YES	CCDS14467.1	ENSP00000321348	O60879		UPI00001293C8	NM_006729.4			13/27		PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF174,Pfam_domain:PF06367,SMART_domains:SM01139,Superfamily_domains:SSF48371																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	10	96942043	96942043	G	T	1	0	0	0	0	0	1	0	0	4323	1175	41	2		2	DIAPH2	23	96942043	Nonsense_Mutation	SNP	G	C3L-00095_TP	5106487	96942043	59098852	833	4214											
BTK	0	.	GRCh38	chrX	101358368	101358368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgctgaaaaggtgcttCtcagccaggtaatactggct	10	11	12	8	0	1	1	1	1	1	0	2	1	1	1	1	4	4	4	1	4	4	3	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1146G>T	p.Glu382Asp	p.E382D	ENST00000621635	12/19	305	270	35	372	372	0	strelka-varscan-mutect	BTK,missense_variant,p.Glu382Asp,ENST00000621635,NM_001287344.1;BTK,missense_variant,p.Glu348Asp,ENST00000308731,NM_000061.2;BTK,missense_variant,p.Glu348Asp,ENST00000618050,;BTK,splice_region_variant,,ENST00000372880,NM_001287345.1;BTK,upstream_gene_variant,,ENST00000470069,;BTK,upstream_gene_variant,,ENST00000488970,;BTK,downstream_gene_variant,,ENST00000464006,;BTK,upstream_gene_variant,,ENST00000478995,;BTK,upstream_gene_variant,,ENST00000470329,;	A	ENST00000621635	Transcript	missense_variant	1393/2767	1146/2082	382/693	E/D	gaG/gaT		1		-1	BTK	HGNC	HGNC:1133	protein_coding	YES	CCDS76003.1	ENSP00000483570	Q06187		UPI000021216F	NM_001287344.1	deleterious(0.02)		12/19		Gene3D:3.30.505.10,Pfam_domain:PF00017,PROSITE_profiles:PS50001,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF92,SMART_domains:SM00252,Superfamily_domains:SSF55550																	MODERATE	1	SNV	1			1										PASS		rs868950482	.												A	3	1	10	101358368	101358368	C	A	1	0	0	0	0	1	0	0	0	1733	927	32	2		2	BTK	23	101358368	Missense_Mutation	SNP	C	C3L-00095_TP	4416325	101358368	54682527	834	4215											
TCEAL2	0	.	GRCh38	chrX	102127394	102127394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaagcaaacagaaattGggggcgtttttgtggatgca	15	9	13	4	1	0	2	0	0	0	2	0	3	0	3	0	3	3	3	0	3	4	3	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.564G>T	p.Leu188Phe	p.L188F	ENST00000372780	3/3	64	58	6	96	96	0	varscan-mutect	TCEAL2,missense_variant,p.Leu188Phe,ENST00000372780,NM_080390.3;TCEAL2,missense_variant,p.Leu188Phe,ENST00000329035,;TCEAL2,downstream_gene_variant,,ENST00000476749,;	T	ENST00000372780	Transcript	missense_variant	783/1100	564/684	188/227	L/F	ttG/ttT		1		1	TCEAL2	HGNC	HGNC:29818	protein_coding	YES	CCDS14496.1	ENSP00000361866	Q9H3H9		UPI00000709E1	NM_080390.3	deleterious(0.01)		3/3		hmmpanther:PTHR14754,hmmpanther:PTHR14754:SF15,Pfam_domain:PF04538																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	102127394	102127394	G	T	1	0	0	0	0	1	0	0	0	16078	1339	47	2		2	TCEAL2	23	102127394	Missense_Mutation	SNP	G	C3L-00095_TP	769026	102127394	53913501	835	4216											
PLP1	0	.	GRCh38	chrX	103787888	103787888	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttacttcaacacctggAccacctgccagtctattgcc	10	11	5	15	0	2	0	1	0	1	0	2	1	2	1	5	1	4	0	5	1	3	5	rs132630282		C3L-00095_TP	C3L-00095_NB	A	A																c.544A>T	p.Thr182Ser	p.T182S	ENST00000612423	5/8	267	247	20	257	257	0	strelka-varscan-mutect	PLP1,missense_variant,p.Thr182Ser,ENST00000612423,NM_001128834.2;PLP1,missense_variant,p.Thr182Ser,ENST00000621218,NM_000533.4,NM_001305004.1;PLP1,missense_variant,p.Thr147Ser,ENST00000619236,NM_199478.2;PLP1,downstream_gene_variant,,ENST00000434483,;PLP1,downstream_gene_variant,,ENST00000494475,;PLP1,downstream_gene_variant,,ENST00000443502,;PLP1,downstream_gene_variant,,ENST00000422393,;PLP1,downstream_gene_variant,,ENST00000433491,;PLP1,downstream_gene_variant,,ENST00000455268,;PLP1,non_coding_transcript_exon_variant,,ENST00000466486,;PLP1,non_coding_transcript_exon_variant,,ENST00000479569,;PLP1,non_coding_transcript_exon_variant,,ENST00000478642,;PLP1,non_coding_transcript_exon_variant,,ENST00000485688,;PLP1,non_coding_transcript_exon_variant,,ENST00000494119,;PLP1,non_coding_transcript_exon_variant,,ENST00000461231,;PLP1,downstream_gene_variant,,ENST00000619257,;PLP1,downstream_gene_variant,,ENST00000495678,;PLP1,downstream_gene_variant,,ENST00000464776,;PLP1,downstream_gene_variant,,ENST00000465975,;PLP1,downstream_gene_variant,,ENST00000485931,;PLP1,upstream_gene_variant,,ENST00000496836,;PLP1,downstream_gene_variant,,ENST00000476160,;PLP1,downstream_gene_variant,,ENST00000480325,;	T	ENST00000612423	Transcript	missense_variant	824/3132	544/834	182/277	T/S	Acc/Tcc	rs132630282,CM920582	1		1	PLP1	HGNC	HGNC:9086	protein_coding	YES	CCDS14513.1	ENSP00000481006	P60201	A8K9L3	UPI000000031E	NM_001128834.2	tolerated(0.89)		5/8		Pfam_domain:PF01275,hmmpanther:PTHR11683,hmmpanther:PTHR11683:SF11,SMART_domains:SM00002										pathogenic							MODERATE	1	SNV	2		1,1	1										PASS		rs132630282	.												T	3	4	10	103787888	103787888	A	T	1	0	0	0	0	1	0	0	0	12200	275	10	4		4	PLP1	23	103787888	Missense_Mutation	SNP	A	C3L-00095_TP	1660494	103787888	52253007	836	4217											
PLP1	0	.	GRCh38	chrX	103788463	103788463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccatggaatgctttccctGgcaaggtttgtggctccaac	7	12	10	12	0	0	0	0	0	0	0	3	1	3	1	3	4	2	4	3	4	3	2			C3L-00095_TP	C3L-00095_NB	G	G																c.649G>A	p.Gly217Ser	p.G217S	ENST00000612423	6/8	303	254	49	331	331	0	strelka-varscan-mutect	PLP1,missense_variant,p.Gly217Ser,ENST00000612423,NM_001128834.2;PLP1,missense_variant,p.Gly217Ser,ENST00000621218,NM_000533.4,NM_001305004.1;PLP1,missense_variant,p.Gly182Ser,ENST00000619236,NM_199478.2;PLP1,downstream_gene_variant,,ENST00000434483,;PLP1,downstream_gene_variant,,ENST00000494475,;PLP1,downstream_gene_variant,,ENST00000443502,;PLP1,downstream_gene_variant,,ENST00000422393,;PLP1,downstream_gene_variant,,ENST00000433491,;PLP1,downstream_gene_variant,,ENST00000455268,;PLP1,non_coding_transcript_exon_variant,,ENST00000466486,;PLP1,non_coding_transcript_exon_variant,,ENST00000485688,;PLP1,non_coding_transcript_exon_variant,,ENST00000494119,;PLP1,non_coding_transcript_exon_variant,,ENST00000461231,;PLP1,downstream_gene_variant,,ENST00000479569,;PLP1,downstream_gene_variant,,ENST00000478642,;PLP1,downstream_gene_variant,,ENST00000619257,;PLP1,downstream_gene_variant,,ENST00000495678,;PLP1,downstream_gene_variant,,ENST00000464776,;PLP1,downstream_gene_variant,,ENST00000465975,;PLP1,downstream_gene_variant,,ENST00000485931,;PLP1,upstream_gene_variant,,ENST00000496836,;PLP1,downstream_gene_variant,,ENST00000476160,;PLP1,downstream_gene_variant,,ENST00000480325,;	A	ENST00000612423	Transcript	missense_variant	929/3132	649/834	217/277	G/S	Ggc/Agc	CM952022	1		1	PLP1	HGNC	HGNC:9086	protein_coding	YES	CCDS14513.1	ENSP00000481006	P60201	A8K9L3	UPI000000031E	NM_001128834.2	deleterious(0.05)		6/8		Pfam_domain:PF01275,Prints_domain:PR00214,hmmpanther:PTHR11683,hmmpanther:PTHR11683:SF11,SMART_domains:SM00002																	MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	10	103788463	103788463	G	A	1	0	0	0	0	1	0	0	0	12200	1348	47	3		3	PLP1	23	103788463	Missense_Mutation	SNP	G	C3L-00095_TP	575	103788463	52252432	837	4218											
VSIG1	0	.	GRCh38	chrX	108076113	108076113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattgttggggccttgattgGtagcctggtaggtgccgcca	5	12	15	9	1	0	1	0	1	0	0	0	1	0	1	4	5	2	3	4	5	2	6	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.833G>A	p.Gly278Asp	p.G278D	ENST00000415430	7/8	112	103	9	142	142	0	strelka-varscan-mutect	VSIG1,missense_variant,p.Gly278Asp,ENST00000415430,NM_001170553.1;VSIG1,missense_variant,p.Gly242Asp,ENST00000217957,NM_182607.4;VSIG1,downstream_gene_variant,,ENST00000485533,;VSIG1,downstream_gene_variant,,ENST00000479635,;	A	ENST00000415430	Transcript	missense_variant	994/3236	833/1272	278/423	G/D	gGt/gAt		1		1	VSIG1	HGNC	HGNC:28675	protein_coding	YES	CCDS55474.1	ENSP00000402219	Q86XK7		UPI00017A7E2F	NM_001170553.1	deleterious(0)		7/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF115																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	10	108076113	108076113	G	A	1	0	0	0	0	1	0	0	0	17772	1261	44	3		3	VSIG1	23	108076113	Missense_Mutation	SNP	G	C3L-00095_TP	4287650	108076113	47964782	838	4219											
CHRDL1	0	.	GRCh38	chrX	110700663	110700663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacacttactgcttctctGttggcaggttgccggaagat	7	14	10	10	1	2	1	1	0	1	1	3	2	2	2	1	3	3	4	1	3	2	5	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.600C>A	p.Asn200Lys	p.N200K	ENST00000372042	7/12	95	77	18	114	113	1	strelka-varscan-mutect	CHRDL1,missense_variant,p.Asn193Lys,ENST00000372045,;CHRDL1,missense_variant,p.Asn199Lys,ENST00000394797,NM_145234.3;CHRDL1,missense_variant,p.Asn200Lys,ENST00000372042,NM_001143981.1;CHRDL1,missense_variant,p.Asn199Lys,ENST00000444321,NM_001143982.1;CHRDL1,missense_variant,p.Asn120Lys,ENST00000482160,NM_001143983.2;	T	ENST00000372042	Transcript	missense_variant	702/1934	600/1377	200/458	N/K	aaC/aaA		1		-1	CHRDL1	HGNC	HGNC:29861	protein_coding	YES	CCDS48149.1	ENSP00000361112	Q9BU40		UPI0000367765	NM_001143981.1	deleterious(0.01)		7/12																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	10	110700663	110700663	G	T	1	0	0	0	0	1	0	0	0	3133	1368	48	2		2	CHRDL1	23	110700663	Missense_Mutation	SNP	G	C3L-00095_TP	2624550	110700663	45340232	839	4220											
CAPN6	0	.	GRCh38	chrX	111249039	111249039	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgaccttgtgcccatcctCaggcacagtgaagatgtact	11	10	9	11	0	1	3	1	2	0	1	2	3	2	3	3	1	2	2	3	1	3	2	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.1177G>C	p.Glu393Gln	p.E393Q	ENST00000324068	9/13	100	82	18	134	134	0	strelka-varscan-mutect	CAPN6,missense_variant,p.Glu393Gln,ENST00000324068,NM_014289.3;	G	ENST00000324068	Transcript	missense_variant	1345/3568	1177/1926	393/641	E/Q	Gag/Cag		1		-1	CAPN6	HGNC	HGNC:1483	protein_coding	YES	CCDS14555.1	ENSP00000317214	Q9Y6Q1		UPI0000126EA1	NM_014289.3	deleterious(0.05)		9/13		hmmpanther:PTHR10183:SF281,hmmpanther:PTHR10183,Pfam_domain:PF01067,Gene3D:2.60.120.380,SMART_domains:SM00720,Superfamily_domains:SSF49758																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	10	111249039	111249039	C	G	1	0	0	0	0	1	0	0	0	2324	835	29	4		4	CAPN6	23	111249039	Missense_Mutation	SNP	C	C3L-00095_TP	548376	111249039	44791856	840	4221											
TRPC5	0	.	GRCh38	chrX	111952103	111952103	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagcgcccaccacttcCttgcgtatggcatagagcaa	10	8	8	15	2	0	1	0	0	0	1	2	1	2	1	4	1	3	3	4	1	3	4	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.318G>A	p.=	p.K106K	ENST00000262839	2/11	79	64	15	104	104	0	strelka-varscan-mutect	TRPC5,synonymous_variant,p.=,ENST00000262839,NM_012471.2;	T	ENST00000262839	Transcript	synonymous_variant	1237/5839	318/2922	106/973	K	aaG/aaA		1		-1	TRPC5	HGNC	HGNC:12337	protein_coding	YES	CCDS14561.1	ENSP00000262839	Q9UL62		UPI00001374B6	NM_012471.2			2/11		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF24,Pfam_domain:PF12796,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	10	111952103	111952103	C	T	1	0	0	0	0	0	0	0	1	17087	680	24	3		3	TRPC5	23	111952103	Silent	SNP	C	C3L-00095_TP	703064	111952103	44088792	841	4222											
RP13-347D8.7	0	.	GRCh38	chrX	119073734	119073734	+	Frame_Shift_Del	DEL	G	G	-																															cagtggctcagaagagccccGgctgttgctggtgcatgaga																								novel		C3L-00095_TP	C3L-00095_NB	G	G																c.510delG	p.Leu171CysfsTer148	p.L171Cfs*148	ENST00000620151	1/3	38	33	5	63	63	0	sindel-pindel	RP13-347D8.7,frameshift_variant,p.Leu171CysfsTer148,ENST00000620151,;KIAA1210,downstream_gene_variant,,ENST00000402510,NM_020721.1;	-	ENST00000620151	Transcript	frameshift_variant	509/1147	509/975	170/324	R/X	cGg/cg		1		1	RP13-347D8.7	Clone_based_vega_gene		protein_coding	YES		ENSP00000488984		A0A0U1RQG5	UPI000719A0D1				1/3		hmmpanther:PTHR32157,hmmpanther:PTHR32157:SF2,Pfam_domain:PF15623																	HIGH	1	deletion	5	1		1										PASS		.	.												-	7	5	10	119073734	119073734	G	-	1	0	1	0	1	0	0	0	0	13772	1116	39	0		0	RP13-347D8.7	23	119073734	Frame_Shift_Del	DEL	G	C3L-00095_TP	7121631	119073734	36967161	842	4223											
DCAF12L2	0	.	GRCh38	chrX	126165225	126165225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagacccacctcgctgtGccaggcaatgctgccattaa	9	8	11	13	1	0	1	0	0	0	1	1	2	0	1	4	2	3	3	4	2	2	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.700C>A	p.His234Asn	p.H234N	ENST00000360028	1/1	58	46	12	89	88	1	strelka-varscan-mutect	DCAF12L2,missense_variant,p.His234Asn,ENST00000360028,NM_001013628.2;	T	ENST00000360028	Transcript	missense_variant	873/2599	700/1392	234/463	H/N	Cac/Aac		1		-1	DCAF12L2	HGNC	HGNC:32950	protein_coding	YES	CCDS43991.1	ENSP00000353128	Q5VW00		UPI0000197594	NM_001013628.2	tolerated(0.25)		1/1		hmmpanther:PTHR19860:SF8,hmmpanther:PTHR19860,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV				1										PASS		rs1375390881	.												T	3	4	10	126165225	126165225	G	T	1	0	0	0	0	1	0	0	0	4066	1319	46	2		2	DCAF12L2	23	126165225	Missense_Mutation	SNP	G	C3L-00095_TP	7091491	126165225	29875670	843	4224											
PRR32	0	.	GRCh38	chrX	126821034	126821034	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaatgtgtcctgggaagtCtctggcggccctcctgcact	6	12	11	12	1	1	0	0	0	1	0	4	1	3	1	3	3	1	1	3	3	2	1	novel		C3L-00095_TP	C3L-00095_NB	C	C																c.396C>T	p.=	p.V132V	ENST00000371125	2/2	53	49	4	54	54	0	strelka-mutect	PRR32,synonymous_variant,p.=,ENST00000371125,NM_001122716.1;	T	ENST00000371125	Transcript	synonymous_variant	476/1228	396/897	132/298	V	gtC/gtT		1		1	PRR32	HGNC	HGNC:34498	protein_coding	YES	CCDS48163.1	ENSP00000360166	B1ATL7		UPI00004A3B00	NM_001122716.1			2/2		Pfam_domain:PF15488,hmmpanther:PTHR37343,hmmpanther:PTHR37343:SF1																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	10	126821034	126821034	C	T	1	0	0	0	0	0	0	0	1	12738	900	32	3		3	PRR32	23	126821034	Silent	SNP	C	C3L-00095_TP	655809	126821034	29219861	844	4225											
SMARCA1	0	.	GRCh38	chrX	129515899	129515899	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaagtacttacatgaaGgtgacacctcaaatctaata	16	11	7	7	0	2	4	1	4	1	0	2	4	2	4	1	1	2	1	1	1	7	4			C3L-00095_TP	C3L-00095_NB	G	G																c.524C>G	p.Pro175Arg	p.P175R	ENST00000371121	4/25	77	62	15	74	74	0	strelka-varscan-mutect	SMARCA1,missense_variant,p.Pro175Arg,ENST00000371122,NM_003069.4;SMARCA1,missense_variant,p.Pro175Arg,ENST00000371123,NM_001282875.1;SMARCA1,missense_variant,p.Pro175Arg,ENST00000371121,NM_001282874.1;SNORD112,upstream_gene_variant,,ENST00000516361,;SMARCA1,non_coding_transcript_exon_variant,,ENST00000478420,;SMARCA1,non_coding_transcript_exon_variant,,ENST00000617310,;	C	ENST00000371121	Transcript	missense_variant	559/3564	524/3213	175/1070	P/R	cCt/cGt	COSM1114815	1		-1	SMARCA1	HGNC	HGNC:11097	protein_coding	YES	CCDS76019.1	ENSP00000360162		B7ZLQ5	UPI00004258DE	NM_001282874.1	deleterious(0)		4/25		hmmpanther:PTHR10799:SF691,hmmpanther:PTHR10799,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	10	129515899	129515899	G	C	1	0	0	0	0	1	0	0	0	15061	1014	35	4		4	SMARCA1	23	129515899	Missense_Mutation	SNP	G	C3L-00095_TP	2694865	129515899	26524996	845	4226											
ARHGAP36	0	.	GRCh38	chrX	131084301	131084301	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaaaaatttcctttccAattggccaacgacttctggg	10	14	6	11	1	2	0	1	0	1	0	4	1	4	0	3	2	1	0	3	2	4	5	novel		C3L-00095_TP	C3L-00095_NB	A	A																c.642A>T	p.=	p.P214P	ENST00000276211	5/12	50	44	6	81	81	0	strelka-varscan-mutect	ARHGAP36,synonymous_variant,p.=,ENST00000276211,NM_144967.3;ARHGAP36,synonymous_variant,p.=,ENST00000370922,NM_001282607.1;ARHGAP36,synonymous_variant,p.=,ENST00000412432,;ARHGAP36,synonymous_variant,p.=,ENST00000370921,;ARHGAP36,synonymous_variant,p.=,ENST00000423277,;	T	ENST00000276211	Transcript	synonymous_variant	987/3083	642/1644	214/547	P	ccA/ccT		1		1	ARHGAP36	HGNC	HGNC:26388	protein_coding	YES	CCDS14628.1	ENSP00000276211	Q6ZRI8		UPI0000041347	NM_144967.3			5/12		hmmpanther:PTHR12635																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	10	131084301	131084301	A	T	1	0	0	0	0	0	0	0	1	1009	117	5	4		4	ARHGAP36	23	131084301	Silent	SNP	A	C3L-00095_TP	1568402	131084301	24956594	846	4227											
SAGE1	0	.	GRCh38	chrX	135908554	135908554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggataacgtcttgtcaaatGttctatccgggcttattaat	11	15	8	7	2	3	0	1	0	2	0	4	1	4	1	1	2	1	2	1	2	5	6	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.1378G>C	p.Val460Leu	p.V460L	ENST00000324447	12/20	93	82	11	109	109	0	strelka-varscan-mutect	SAGE1,missense_variant,p.Val460Leu,ENST00000324447,;SAGE1,missense_variant,p.Val460Leu,ENST00000370709,NM_018666.2;SAGE1,intron_variant,,ENST00000537770,;	C	ENST00000324447	Transcript	missense_variant	1452/2952	1378/2715	460/904	V/L	Gtt/Ctt		1		1	SAGE1	HGNC	HGNC:30369	protein_coding	YES	CCDS14652.1	ENSP00000323191	Q9NXZ1		UPI00001413AB		tolerated(0.1)		12/20		hmmpanther:PTHR12957:SF25,hmmpanther:PTHR12957																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	10	135908554	135908554	G	C	1	0	0	0	0	1	0	0	0	14068	1377	48	4		4	SAGE1	23	135908554	Missense_Mutation	SNP	G	C3L-00095_TP	4824253	135908554	20132341	847	4228											
SLITRK4	0	.	GRCh38	chrX	143629271	143629271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatagacagaggcactggcCcaccaggaggacttcgaatg	14	5	12	10	1	0	2	0	0	0	2	1	5	0	4	2	4	0	1	2	4	3	2			C3L-00095_TP	C3L-00095_NB	C	C																c.1838G>T	p.Gly613Val	p.G613V	ENST00000596188	2/2	123	106	17	179	179	0	strelka-varscan-mutect	SLITRK4,missense_variant,p.Gly613Val,ENST00000596188,NM_001184750.2;SLITRK4,missense_variant,p.Gly613Val,ENST00000338017,NM_173078.4;SLITRK4,missense_variant,p.Gly613Val,ENST00000356928,NM_001184749.2;	A	ENST00000596188	Transcript	missense_variant	2064/8545	1838/2514	613/837	G/V	gGg/gTg	COSM756078	1		-1	SLITRK4	HGNC	HGNC:23502	protein_coding	YES	CCDS14679.1	ENSP00000469205	Q8IW52		UPI000004E650	NM_001184750.2	tolerated(0.47)		2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	10	143629271	143629271	C	A	1	0	0	0	0	1	0	0	0	15036	623	22	2		2	SLITRK4	23	143629271	Missense_Mutation	SNP	C	C3L-00095_TP	7720717	143629271	12411624	848	4229											
MAGEA11	0	.	GRCh38	chrX	149715868	149715868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcctgaggaaggccttcagGcccaagaagaagacctgggc	12	4	14	11	0	1	4	1	1	0	3	1	5	1	5	4	4	1	0	4	4	4	1	novel		C3L-00095_TP	C3L-00095_NB	G	G																c.382G>T	p.Ala128Ser	p.A128S	ENST00000355220	5/5	90	78	12	105	105	0	strelka-varscan-mutect	MAGEA11,missense_variant,p.Ala128Ser,ENST00000355220,NM_005366.4;MAGEA11,missense_variant,p.Ala99Ser,ENST00000333104,NM_001011544.1;MAGEA11,missense_variant,p.Ala99Ser,ENST00000412632,;MAGEA11,non_coding_transcript_exon_variant,,ENST00000518694,;	T	ENST00000355220	Transcript	missense_variant	484/1864	382/1290	128/429	A/S	Gcc/Tcc		1		1	MAGEA11	HGNC	HGNC:6798	protein_coding	YES	CCDS48180.1	ENSP00000347358	P43364		UPI0000211BB0	NM_005366.4	tolerated(0.15)		5/5		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF71,Pfam_domain:PF12440,SMART_domains:SM01392																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	10	149715868	149715868	G	T	1	0	0	0	0	1	0	0	0	9081	1203	42	2		2	MAGEA11	23	149715868	Missense_Mutation	SNP	G	C3L-00095_TP	6086597	149715868	6325027	849	4230											
TMEM57	0	.	GRCh38	chr1	25458479	25458479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaactctccacaactttGccagagatagaataccgaga	18	7	6	10	1	1	3	0	0	1	3	2	5	1	3	3	0	4	0	3	0	7	3	novel		C3L-00140_TP	C3L-00140_NB	G	G																c.741G>T	p.Leu247Phe	p.L247F	ENST00000374343	6/11	103	89	14	139	139	0	strelka-varscan-mutect	TMEM57,missense_variant,p.Leu247Phe,ENST00000374343,NM_018202.5;TMEM57,intron_variant,,ENST00000399766,NM_001282564.1;TMEM57,non_coding_transcript_exon_variant,,ENST00000470035,;	T	ENST00000374343	Transcript	missense_variant	920/3917	741/1995	247/664	L/F	ttG/ttT		1		1	TMEM57	HGNC	HGNC:25572	protein_coding	YES	CCDS30638.1	ENSP00000363463	Q8N5G2		UPI000004A074	NM_018202.5	tolerated(0.7)		6/11		hmmpanther:PTHR13289:SF5,hmmpanther:PTHR13289,Pfam_domain:PF09726																	MODERATE	1	SNV	1			1										PASS		rs1186494608	.												T	3	4	11	25458479	25458479	G	T	1	0	0	0	0	1	0	0	0	16660	1310	46	2		2	TMEM57	1	25458479	Missense_Mutation	SNP	G	C3L-00140_TP		25458479	223497943	1	4231											
GLIS1	0	.	GRCh38	chr1	53594454	53594454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctctgaaaactcatccGcgggttcctgcttcaggaag	10	9	11	11	2	3	2	2	1	1	1	5	3	5	3	2	2	3	3	2	2	3	2	rs184554996		C3L-00140_TP	C3L-00140_NB	G	G																c.449C>A	p.Ala150Glu	p.A150E	ENST00000312233	3/10	243	209	34	237	237	0	strelka-varscan-mutect	GLIS1,missense_variant,p.Ala150Glu,ENST00000312233,NM_147193.2;GLIS1,missense_variant,p.Ala325Glu,ENST00000628545,;	T	ENST00000312233	Transcript	missense_variant	1016/2812	449/1863	150/620	A/E	gCg/gAg	rs184554996	1		-1	GLIS1	HGNC	HGNC:29525	protein_coding	YES	CCDS582.1	ENSP00000309653	Q8NBF1		UPI000013F293	NM_147193.2	tolerated(0.27)		3/10		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF93																	MODERATE	1	SNV	2			1										PASS		rs184554996	.												T	3	4	11	53594454	53594454	G	T	1	0	0	0	0	1	0	0	0	6323	1087	38	1		1	GLIS1	1	53594454	Missense_Mutation	SNP	G	C3L-00140_TP	28135975	53594454	195361968	2	4232											
ERICH3	0	.	GRCh38	chr1	74572006	74572006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcctggcctgtggctGggatcagcccctcaggggcc	3	8	14	16	0	3	0	2	0	1	0	3	1	3	1	6	5	2	1	6	5	0	0	novel		C3L-00140_TP	C3L-00140_NB	G	G																c.3704C>A	p.Pro1235Gln	p.P1235Q	ENST00000326665	14/15	193	152	41	236	235	1	strelka-varscan-mutect	ERICH3,missense_variant,p.Pro1235Gln,ENST00000326665,NM_001002912.4;ERICH3,non_coding_transcript_exon_variant,,ENST00000433746,;ERICH3,downstream_gene_variant,,ENST00000614534,;	T	ENST00000326665	Transcript	missense_variant	3923/7159	3704/4593	1235/1530	P/Q	cCa/cAa		1		-1	ERICH3	HGNC	HGNC:25346	protein_coding	YES	CCDS30755.1	ENSP00000322609	Q5RHP9		UPI0000237200	NM_001002912.4	tolerated(0.08)		14/15		hmmpanther:PTHR23034																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	11	74572006	74572006	G	T	1	0	0	0	0	1	0	0	0	5083	1348	47	2		2	ERICH3	1	74572006	Missense_Mutation	SNP	G	C3L-00140_TP	20977552	74572006	174384416	3	4233											
TMCO1	0	.	GRCh38	chr1	165759557	165759557	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgtcgaccagctgacTctgttattgtttccttcttc	4	19	7	11	1	3	1	0	1	3	0	6	2	4	1	2	0	1	4	2	0	1	6	novel		C3L-00140_TP	C3L-00140_NB	T	T																c.329A>T	p.Glu110Val	p.E110V	ENST00000612311	3/7	107	72	35	308	308	0	strelka-varscan-mutect	TMCO1,missense_variant,p.Glu110Val,ENST00000612311,NM_019026.4,NM_001256164.1;TMCO1,missense_variant,p.Glu110Val,ENST00000367881,;TMCO1,missense_variant,p.Glu59Val,ENST00000392129,;TMCO1,missense_variant,p.Glu47Val,ENST00000481278,NM_001256165.1;TMCO1,missense_variant,p.Glu110Val,ENST00000628579,;TMCO1,5_prime_UTR_variant,,ENST00000580248,;TMCO1,5_prime_UTR_variant,,ENST00000464650,;TMCO1,missense_variant,p.Glu110Val,ENST00000465705,;TMCO1,intron_variant,,ENST00000476143,;	A	ENST00000612311	Transcript	missense_variant	347/4468	329/720	110/239	E/V	gAg/gTg		1		-1	TMCO1	HGNC	HGNC:18188	protein_coding	YES	CCDS1251.2	ENSP00000480514		J9JIE6	UPI0000EE3C5A	NM_019026.4,NM_001256164.1	tolerated(0.13)		3/7		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01956,hmmpanther:PTHR20917,SMART_domains:SM01415																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	11	165759557	165759557	T	A	1	0	0	0	0	1	0	0	0	16441	1551	54	4		4	TMCO1	1	165759557	Missense_Mutation	SNP	T	C3L-00140_TP	91187551	165759557	83196865	4	4234											
XPO1	0	.	GRCh38	chr2	61482462	61482462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttgttaactggatttccagGatttaatgatgtacttattt	10	19	8	4	0	0	1	0	1	0	0	1	3	1	3	1	2	2	3	1	2	4	8	novel		C3L-00140_TP	C3L-00140_NB	G	G																c.2890C>T	p.Pro964Ser	p.P964S	ENST00000401558	23/25	63	54	9	144	144	0	strelka-mutect	XPO1,missense_variant,p.Pro964Ser,ENST00000401558,NM_003400.3;XPO1,missense_variant,p.Pro964Ser,ENST00000404992,;XPO1,missense_variant,p.Pro964Ser,ENST00000406957,;RP11-355B11.2,intron_variant,,ENST00000603652,;RP11-355B11.2,intron_variant,,ENST00000578974,;RP11-355B11.2,intron_variant,,ENST00000603028,;RP11-355B11.2,upstream_gene_variant,,ENST00000605437,;RP11-355B11.2,downstream_gene_variant,,ENST00000603199,;XPO1,downstream_gene_variant,,ENST00000494468,;XPO1,3_prime_UTR_variant,,ENST00000428210,;XPO1,non_coding_transcript_exon_variant,,ENST00000481073,;XPO1,downstream_gene_variant,,ENST00000461407,;XPO1,downstream_gene_variant,,ENST00000492182,;	A	ENST00000401558	Transcript	missense_variant	3618/4915	2890/3216	964/1071	P/S	Cct/Tct		1		-1	XPO1	HGNC	HGNC:12825	protein_coding	YES	CCDS33205.1	ENSP00000384863	O14980		UPI0000001C23	NM_003400.3	deleterious(0.03)		23/25		Gene3D:1.25.10.10,Pfam_domain:PF08767,SMART_domains:SM01102,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	11	61482462	61482462	G	A	1	0	0	0	0	1	0	0	0	18004	1174	41	3		3	XPO1	2	61482462	Missense_Mutation	SNP	G	C3L-00140_TP		61482462	180711067	5	4235											
PLRG1	0	.	GRCh38	chr4	154544537	154544537	+	Nonsense_Mutation	SNP	C	C	A																															gttcttggtattgccagtctCcatgacaatctagacataga																								novel		C3L-00140_TP	C3L-00140_NB	C	C																c.502G>T	p.Glu168Ter	p.E168*	ENST00000499023	7/15	210	177	33	196	196	0	strelka-varscan-mutect	PLRG1,stop_gained,p.Glu168Ter,ENST00000499023,NM_002669.3;PLRG1,stop_gained,p.Glu159Ter,ENST00000302078,NM_001201564.1;PLRG1,stop_gained,p.Glu166Ter,ENST00000504341,;RNU6-1285P,upstream_gene_variant,,ENST00000363480,;PLRG1,3_prime_UTR_variant,,ENST00000506192,;PLRG1,non_coding_transcript_exon_variant,,ENST00000506918,;PLRG1,upstream_gene_variant,,ENST00000506627,;PLRG1,downstream_gene_variant,,ENST00000503751,;PLRG1,downstream_gene_variant,,ENST00000512719,;PLRG1,downstream_gene_variant,,ENST00000515520,;PLRG1,downstream_gene_variant,,ENST00000509975,;PLRG1,upstream_gene_variant,,ENST00000507125,;	A	ENST00000499023	Transcript	stop_gained	629/3351	502/1545	168/514	E/*	Gag/Tag		1		-1	PLRG1	HGNC	HGNC:9089	protein_coding	YES	CCDS34083.1	ENSP00000424417	O43660		UPI0000070B39	NM_002669.3			7/15		hmmpanther:PTHR19923,hmmpanther:PTHR19923:SF0																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	11	154544537	154544537	C	A	1	0	0	0	0	0	1	0	0	12214	864	30	2		2	PLRG1	4	154544537	Nonsense_Mutation	SNP	C	C3L-00140_TP		154544537	35670018	6	4236	97	2									
PLRG1	0	.	GRCh38	chr4	154544538	154544538	+	Missense_Mutation	SNP	C	C	A																															ttcttggtattgccagtctcCatgacaatctagacatagaa																								novel		C3L-00140_TP	C3L-00140_NB	C	C																c.501G>T	p.Met167Ile	p.M167I	ENST00000499023	7/15	205	172	33	192	192	0	strelka-mutect	PLRG1,missense_variant,p.Met167Ile,ENST00000499023,NM_002669.3;PLRG1,missense_variant,p.Met158Ile,ENST00000302078,NM_001201564.1;PLRG1,missense_variant,p.Met165Ile,ENST00000504341,;RNU6-1285P,upstream_gene_variant,,ENST00000363480,;PLRG1,3_prime_UTR_variant,,ENST00000506192,;PLRG1,non_coding_transcript_exon_variant,,ENST00000506918,;PLRG1,upstream_gene_variant,,ENST00000506627,;PLRG1,downstream_gene_variant,,ENST00000503751,;PLRG1,downstream_gene_variant,,ENST00000512719,;PLRG1,downstream_gene_variant,,ENST00000515520,;PLRG1,downstream_gene_variant,,ENST00000509975,;PLRG1,upstream_gene_variant,,ENST00000507125,;	A	ENST00000499023	Transcript	missense_variant	628/3351	501/1545	167/514	M/I	atG/atT		1		-1	PLRG1	HGNC	HGNC:9089	protein_coding	YES	CCDS34083.1	ENSP00000424417	O43660		UPI0000070B39	NM_002669.3	tolerated(0.48)		7/15		hmmpanther:PTHR19923,hmmpanther:PTHR19923:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	11	154544538	154544538	C	A	1	0	0	0	0	1	0	0	0	12214	594	21	2		2	PLRG1	4	154544538	Missense_Mutation	SNP	C	C3L-00140_TP	1	154544538	35670017	7	4237	97	2									
CEP120	0	.	GRCh38	chr5	123382886	123382886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttgctgtacggcagataCaccctaagagatgaaccaaa	14	9	8	10	1	0	3	0	1	0	2	0	4	0	3	2	1	4	3	2	1	5	5	rs766153970		C3L-00140_TP	C3L-00140_NB	C	C																c.1864G>T	p.Val622Leu	p.V622L	ENST00000306467	13/20	123	102	21	110	110	0	strelka-varscan-mutect	CEP120,missense_variant,p.Val622Leu,ENST00000306467,;CEP120,missense_variant,p.Val622Leu,ENST00000328236,NM_153223.3;CEP120,missense_variant,p.Val596Leu,ENST00000306481,NM_001166226.1;CEP120,missense_variant,p.Val596Leu,ENST00000508442,;CEP120,3_prime_UTR_variant,,ENST00000508138,;CEP120,3_prime_UTR_variant,,ENST00000513565,;	A	ENST00000306467	Transcript	missense_variant	2169/4900	1864/2961	622/986	V/L	Gta/Tta	rs766153970	1		-1	CEP120	HGNC	HGNC:26690	protein_coding	YES	CCDS4134.2	ENSP00000303058	Q8N960		UPI0000D79C73		tolerated(0.96)		13/20		hmmpanther:PTHR21574																	MODERATE	1	SNV	5			1										PASS		rs766153970	.												A	3	1	11	123382886	123382886	C	A	1	0	0	0	0	1	0	0	0	2956	492	17	2		2	CEP120	5	123382886	Missense_Mutation	SNP	C	C3L-00140_TP		123382886	58155373	8	4238											
PDE6A	0	.	GRCh38	chr5	149863219	149863219	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactccttgcgattgttggtGatcccgtccaacattggggt	6	13	11	11	2	0	1	0	1	0	0	3	2	3	1	3	3	2	1	3	3	1	4	novel		C3L-00140_TP	C3L-00140_NB	G	G																c.2406C>T	p.=	p.I802I	ENST00000255266	21/22	458	371	87	499	499	0	strelka-varscan-mutect	PDE6A,synonymous_variant,p.=,ENST00000255266,NM_000440.2;PDE6A,synonymous_variant,p.=,ENST00000613228,;PDE6A,synonymous_variant,p.=,ENST00000617647,;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;PDE6A,non_coding_transcript_exon_variant,,ENST00000512670,;	A	ENST00000255266	Transcript	synonymous_variant	2526/5642	2406/2583	802/860	I	atC/atT		1		-1	PDE6A	HGNC	HGNC:8785	protein_coding	YES	CCDS4299.1	ENSP00000255266	P16499		UPI000013CE9F	NM_000440.2			21/22		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF115,Gene3D:1.10.1300.10,Pfam_domain:PF00233,Superfamily_domains:SSF109604																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	11	149863219	149863219	G	A	1	0	0	0	0	0	0	0	1	11733	1280	45	3		3	PDE6A	5	149863219	Silent	SNP	G	C3L-00140_TP	26480333	149863219	31675040	9	4239											
PRRC2A	0	.	GRCh38	chr6	31627823	31627823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgaggatgaggcatggcGgcagcgacgaaagcagtcgt	12	5	17	7	4	0	3	0	2	0	1	1	6	0	4	0	4	2	3	0	4	1	0			C3L-00140_TP	C3L-00140_NB	G	G																c.1349G>T	p.Arg450Leu	p.R450L	ENST00000376033	12/31	190	133	57	221	221	0	strelka-varscan-mutect	PRRC2A,missense_variant,p.Arg450Leu,ENST00000376033,NM_004638.3;PRRC2A,missense_variant,p.Arg450Leu,ENST00000376007,NM_080686.2;SNORA38,downstream_gene_variant,,ENST00000363946,;PRRC2A,downstream_gene_variant,,ENST00000469577,;PRRC2A,upstream_gene_variant,,ENST00000483470,;PRRC2A,downstream_gene_variant,,ENST00000464890,;PRRC2A,downstream_gene_variant,,ENST00000464079,;	T	ENST00000376033	Transcript	missense_variant	1583/6893	1349/6474	450/2157	R/L	cGg/cTg	COSM3861722	1		1	PRRC2A	HGNC	HGNC:13918	protein_coding	YES	CCDS4708.1	ENSP00000365201	P48634		UPI000020E56F	NM_004638.3	tolerated(0.07)		12/31		hmmpanther:PTHR14038:SF5,hmmpanther:PTHR14038											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	11	31627823	31627823	G	T	1	0	0	0	0	1	0	0	0	12748	1116	39	1		1	PRRC2A	6	31627823	Missense_Mutation	SNP	G	C3L-00140_TP		31627823	139178156	10	4240											
EYA4	0	.	GRCh38	chr6	133461141	133461141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtagtggctacagccccaGatcagcacatcagtattccc	12	8	8	13	0	2	1	2	0	0	1	3	1	3	1	3	1	3	4	3	1	4	4	novel		C3L-00140_TP	C3L-00140_NB	G	G																c.398G>A	p.Arg133Lys	p.R133K	ENST00000531901	7/20	339	275	64	340	340	0	strelka-varscan-mutect	EYA4,missense_variant,p.Arg133Lys,ENST00000367895,NM_004100.4;EYA4,missense_variant,p.Arg133Lys,ENST00000355167,NM_172105.3;EYA4,missense_variant,p.Arg110Lys,ENST00000355286,NM_172103.3;EYA4,missense_variant,p.Arg110Lys,ENST00000525849,;EYA4,missense_variant,p.Arg133Lys,ENST00000531901,NM_001301013.1;EYA4,missense_variant,p.Arg79Lys,ENST00000452339,NM_001301012.1;EYA4,missense_variant,p.Arg79Lys,ENST00000430974,;EYA4,missense_variant,p.Arg133Lys,ENST00000431403,;RP1-283K11.2,upstream_gene_variant,,ENST00000457081,;EYA4,non_coding_transcript_exon_variant,,ENST00000531861,;EYA4,non_coding_transcript_exon_variant,,ENST00000421413,;EYA4,upstream_gene_variant,,ENST00000532518,;EYA4,downstream_gene_variant,,ENST00000525614,;EYA4,upstream_gene_variant,,ENST00000497350,;	A	ENST00000531901	Transcript	missense_variant	627/2892	398/1938	133/645	R/K	aGa/aAa		1		1	EYA4	HGNC	HGNC:3522	protein_coding	YES	CCDS75521.1	ENSP00000432770		F2Z2Y1	UPI0001AE72E3	NM_001301013.1	tolerated(0.11)		7/20		hmmpanther:PTHR10190:SF17,hmmpanther:PTHR10190																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	11	133461141	133461141	G	A	1	0	0	0	0	1	0	0	0	5199	942	33	3		3	EYA4	6	133461141	Missense_Mutation	SNP	G	C3L-00140_TP	101833318	133461141	37344838	11	4241											
SLC35D3	0	.	GRCh38	chr6	136924028	136924028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcagtacgtcatcgccGtctctgccaccccgctgctg	4	8	10	19	6	2	0	1	0	1	0	4	0	2	0	5	0	3	4	5	0	1	1	rs370964074		C3L-00140_TP	C3L-00140_NB	G	G																c.583G>T	p.Val195Phe	p.V195F	ENST00000331858	2/2	205	169	36	245	245	0	strelka-varscan-mutect	SLC35D3,missense_variant,p.Val195Phe,ENST00000331858,NM_001008783.2;	T	ENST00000331858	Transcript	missense_variant	748/2359	583/1251	195/416	V/F	Gtc/Ttc	rs370964074	1		1	SLC35D3	HGNC	HGNC:15621	protein_coding	YES	CCDS34544.1	ENSP00000333591	Q5M8T2		UPI00003673E9	NM_001008783.2	tolerated(0.1)		2/2		hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF62,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs370964074	.												T	3	4	11	136924028	136924028	G	T	1	0	0	0	0	1	0	0	0	14853	1145	40	1		1	SLC35D3	6	136924028	Missense_Mutation	SNP	G	C3L-00140_TP	3462887	136924028	33881951	12	4242											
LATS1	0	.	GRCh38	chr6	149676591	149676591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcaggtgcaatataattggGagtcccaaccaaagaatgtg	14	10	10	7	0	1	1	1	0	0	1	2	2	2	2	2	2	2	1	2	2	6	4	novel		C3L-00140_TP	C3L-00140_NB	G	G																c.2740C>T	p.Pro914Ser	p.P914S	ENST00000543571	6/8	135	113	22	153	153	0	strelka-varscan-mutect	LATS1,missense_variant,p.Pro914Ser,ENST00000543571,NM_004690.3;LATS1,missense_variant,p.Pro914Ser,ENST00000253339,;LATS1,non_coding_transcript_exon_variant,,ENST00000542747,;LATS1,3_prime_UTR_variant,,ENST00000441107,;	A	ENST00000543571	Transcript	missense_variant	3288/7517	2740/3393	914/1130	P/S	Ccc/Tcc		1		-1	LATS1	HGNC	HGNC:6514	protein_coding	YES	CCDS34551.1	ENSP00000437550	O95835		UPI0000073DC2	NM_004690.3	deleterious(0)		6/8		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF138,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	11	149676591	149676591	G	A	1	0	0	0	0	1	0	0	0	8551	1174	41	3		3	LATS1	6	149676591	Missense_Mutation	SNP	G	C3L-00140_TP	12752563	149676591	21129388	13	4243											
TTLL2	0	.	GRCh38	chr6	167340836	167340836	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcctcttatgagaagatCaaagaagtgattggtcatgg	12	10	14	5	0	3	4	2	2	1	3	3	5	3	4	1	4	0	0	1	4	4	2	novel		C3L-00140_TP	C3L-00140_NB	C	C																c.936C>A	p.=	p.I312I	ENST00000239587	3/3	235	194	41	281	281	0	strelka-varscan-mutect	TTLL2,synonymous_variant,p.=,ENST00000239587,NM_031949.4;TTLL2,synonymous_variant,p.=,ENST00000515138,;TTLL2,downstream_gene_variant,,ENST00000512917,;	A	ENST00000239587	Transcript	synonymous_variant	1024/2075	936/1779	312/592	I	atC/atA		1		1	TTLL2	HGNC	HGNC:21211	protein_coding	YES	CCDS5301.1	ENSP00000239587	Q9BWV7		UPI00001A3A8B	NM_031949.4			3/3		Pfam_domain:PF03133,PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF11																	LOW	1	SNV	1			1										PASS		rs1261849765	.												A	2	1	11	167340836	167340836	C	A	1	0	0	0	0	0	0	0	1	17238	816	29	2		2	TTLL2	6	167340836	Silent	SNP	C	C3L-00140_TP	17664245	167340836	3465143	14	4244											
HDAC9	0	.	GRCh38	chr7	18648593	18648593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgcacctttgcctcaGagcacgttggctcagctggt	6	11	11	13	1	3	1	2	0	1	1	3	1	3	1	2	2	4	5	2	2	0	2	novel		C3L-00140_TP	C3L-00140_NB	G	G																c.1377G>T	p.Gln459His	p.Q459H	ENST00000441542	10/25	385	334	51	454	451	3	strelka-varscan-mutect	HDAC9,missense_variant,p.Gln456His,ENST00000406451,NM_001321897.1,NM_178423.1;HDAC9,missense_variant,p.Gln415His,ENST00000622668,NM_001321879.1,NM_001321885.1,NM_001321893.1,NM_001321891.1,NM_001321894.1,NM_001204146.1;HDAC9,missense_variant,p.Gln456His,ENST00000405010,NM_001321869.1,NM_001321870.1,NM_001321874.1,NM_001321875.1,NM_001321884.1,NM_001321886.1,NM_001321887.1,NM_001321890.1,NM_001321899.1,NM_001321900.1,NM_001321901.1,NM_001321902.1,NM_014707.1;HDAC9,missense_variant,p.Gln443His,ENST00000406072,NM_001321871.1,NM_001321872.1,NM_001321873.1,NM_001321888.1,NM_001321895.1,NM_001321898.1;HDAC9,missense_variant,p.Gln415His,ENST00000401921,;HDAC9,missense_variant,p.Gln459His,ENST00000441542,NM_178425.2;HDAC9,missense_variant,p.Gln456His,ENST00000432645,NM_058176.2;HDAC9,missense_variant,p.Gln454His,ENST00000417496,NM_001204144.1;HDAC9,missense_variant,p.Gln412His,ENST00000428307,NM_001204145.1;HDAC9,missense_variant,p.Gln428His,ENST00000456174,NM_001204148.1;HDAC9,missense_variant,p.Gln379His,ENST00000524023,NM_001204147.1;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;	T	ENST00000441542	Transcript	missense_variant	1377/3210	1377/3210	459/1069	Q/H	caG/caT		1		1	HDAC9	HGNC	HGNC:14065	protein_coding	YES	CCDS47553.1	ENSP00000408617	Q9UKV0		UPI000019AB75	NM_178425.2	deleterious(0.02)		10/25		hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF136,PIRSF_domain:PIRSF037911																	MODERATE	1	SNV	1			1										PASS		rs1260202588	.												T	3	4	11	18648593	18648593	G	T	1	0	0	0	0	1	0	0	0	6901	933	33	2		2	HDAC9	7	18648593	Missense_Mutation	SNP	G	C3L-00140_TP		18648593	140697380	15	4245											
BRAF	0	.	GRCh38	chr7	140753354	140753354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtagctagaccaaaaTcacctatttttactgtgagg	12	13	7	9	0	2	2	2	1	0	1	2	2	2	2	2	1	2	2	2	1	6	6	rs121913338		C3L-00140_TP	C3L-00140_NB	T	T																c.1781A>G	p.Asp594Gly	p.D594G	ENST00000288602	15/18	267	221	46	371	371	0	strelka-varscan-mutect	BRAF,missense_variant,p.Asp202Gly,ENST00000496384,;BRAF,missense_variant,p.Asp594Gly,ENST00000288602,NM_004333.4;BRAF,missense_variant,p.Asp22Gly,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000497784,;	C	ENST00000288602	Transcript	missense_variant	1842/2480	1781/2301	594/766	D/G	gAt/gGt	rs121913338,COSM1583010,COSM466,COSM467	1		-1	BRAF	HGNC	HGNC:1097	protein_coding	YES	CCDS5863.1	ENSP00000288602	P15056		UPI000013DF26	NM_004333.4	deleterious(0)		15/18		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF43,SMART_domains:SM00220,Superfamily_domains:SSF56112										pathogenic	0,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs121913338	.												C	3	2	11	140753354	140753354	T	C	1	0	0	0	0	1	0	0	0	1665	1435	50	5		5	BRAF	7	140753354	Missense_Mutation	SNP	T	C3L-00140_TP	122104761	140753354	18592619	16	4246											
INSIG1	0	.	GRCh38	chr7	155308255	155308255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatagggtgttcctgaaaaGccccatagtgattgagtctt	11	12	10	8	0	1	3	0	3	1	0	2	3	2	3	3	1	1	1	3	1	4	5	novel		C3L-00140_TP	C3L-00140_NB	G	G																c.819G>T	p.Lys273Asn	p.K273N	ENST00000340368	6/6	108	96	12	91	91	0	strelka-varscan-mutect	INSIG1,missense_variant,p.Lys273Asn,ENST00000340368,NM_005542.4;INSIG1,missense_variant,p.Ser145Ile,ENST00000344756,NM_198336.2;INSIG1,missense_variant,p.Ser206Ile,ENST00000476756,;INSIG1,3_prime_UTR_variant,,ENST00000342407,NM_198337.2;	T	ENST00000340368	Transcript	missense_variant	1030/3010	819/834	273/277	K/N	aaG/aaT		1		1	INSIG1	HGNC	HGNC:6083	protein_coding	YES	CCDS5938.1	ENSP00000344741	O15503	A0A024RD68	UPI00000015DE	NM_005542.4	deleterious_low_confidence(0)		6/6		hmmpanther:PTHR15301:SF11,hmmpanther:PTHR15301																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	11	155308255	155308255	G	T	1	0	0	0	0	1	0	0	0	7667	971	34	2		2	INSIG1	7	155308255	Missense_Mutation	SNP	G	C3L-00140_TP	14554901	155308255	4037718	17	4247											
GOT1L1	0	.	GRCh38	chr8	37937745	37937745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccaacagtgtgtacacccCctacctgccagcaagacata	13	6	6	16	0	0	1	0	0	0	1	0	1	0	1	5	0	5	2	5	0	5	3	rs374820148		C3L-00140_TP	C3L-00140_NB	C	C																c.302G>T	p.Gly101Val	p.G101V	ENST00000307599	3/9	180	152	28	175	174	1	strelka-varscan-mutect	GOT1L1,missense_variant,p.Gly101Val,ENST00000307599,NM_152413.2;GOT1L1,missense_variant,p.Gly133Val,ENST00000524298,;GOT1L1,upstream_gene_variant,,ENST00000518826,;	A	ENST00000307599	Transcript	missense_variant	402/1378	302/1266	101/421	G/V	gGg/gTg	rs374820148	1		-1	GOT1L1	HGNC	HGNC:28487	protein_coding	YES	CCDS47839.1	ENSP00000303077	Q8NHS2		UPI000004E052	NM_152413.2	deleterious(0.02)		3/9		Gene3D:3.90.1150.10,Pfam_domain:PF00155,hmmpanther:PTHR11879,hmmpanther:PTHR11879:SF6,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		rs374820148	.												A	3	1	11	37937745	37937745	C	A	1	0	0	0	0	1	0	0	0	6474	637	22	2		2	GOT1L1	8	37937745	Missense_Mutation	SNP	C	C3L-00140_TP		37937745	107200891	18	4248											
HRCT1	0	.	GRCh38	chr9	35906601	35906601	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctccaccaccaccaccAcccccaccgccaccatcccc	9	2	1	29	1	0	0	0	0	0	0	2	0	2	0	14	0	0	0	14	0	0	0	rs773374712		C3L-00140_TP	C3L-00140_NB	A	A																c.314A>C	p.His105Pro	p.H105P	ENST00000354323	1/1	71	65	6	90	90	0	varscan-mutect	HRCT1,missense_variant,p.His105Pro,ENST00000354323,NM_001039792.1;LINC00961,upstream_gene_variant,,ENST00000443779,;LINC00961,upstream_gene_variant,,ENST00000636776,;LINC00961,upstream_gene_variant,,ENST00000638062,;	C	ENST00000354323	Transcript	missense_variant	410/950	314/348	105/115	H/P	cAc/cCc	rs773374712,TMP_ESP_9_35906598_35906598,COSM3747762	1		1	HRCT1	HGNC	HGNC:33872	protein_coding	YES	CCDS35012.1	ENSP00000346283	Q6UXD1		UPI0000048EC9	NM_001039792.1			1/1		Pfam_domain:PF15758,hmmpanther:PTHR23009,hmmpanther:PTHR23009:SF2,Low_complexity_(Seg):seg											0,0,1						MODERATE		SNV			0,0,1	1										PASS		rs758654295	.												C	3	2	11	35906601	35906601	A	C	1	0	0	0	0	1	0	0	0	7248	159	6	5		5	HRCT1	9	35906601	Missense_Mutation	SNP	A	C3L-00140_TP		35906601	102488116	19	4249											
SPATA31E1	0	.	GRCh38	chr9	87888495	87888495	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactggggcttcagtggggAcgaggtccctcagaggtcaa	10	7	15	9	1	3	1	3	0	0	1	4	3	4	2	1	6	1	1	1	6	2	1	novel		C3L-00140_TP	C3L-00140_NB	A	A																c.4008A>G	p.=	p.G1336G	ENST00000325643	4/4	267	211	56	247	247	0	strelka-varscan-mutect	SPATA31E1,synonymous_variant,p.=,ENST00000325643,NM_178828.4;	G	ENST00000325643	Transcript	synonymous_variant	4074/4478	4008/4338	1336/1445	G	ggA/ggG		1		1	SPATA31E1	HGNC	HGNC:26672	protein_coding	YES	CCDS6676.1	ENSP00000322640	Q6ZUB1		UPI000036764A	NM_178828.4			4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF19																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	11	87888495	87888495	A	G	1	0	0	0	0	0	0	0	1	15350	262	10	5		5	SPATA31E1	9	87888495	Silent	SNP	A	C3L-00140_TP	51981894	87888495	50506222	20	4250											
GPR107	0	.	GRCh38	chr9	130114576	130114576	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattttttttgtggagataGagtctcaccattttgcccag	10	16	8	7	0	1	2	1	0	1	2	2	3	1	2	2	1	1	0	2	1	2	7	novel		C3L-00140_TP	C3L-00140_NB	G	G																c.1364-1G>T		p.X455_splice	ENST00000372406		79	72	7	91	91	0	strelka-varscan-mutect	GPR107,splice_acceptor_variant,,ENST00000372406,NM_001136557.1;GPR107,stop_gained,p.Glu455Ter,ENST00000610997,;GPR107,intron_variant,,ENST00000347136,NM_020960.4,NM_001287346.1;GPR107,intron_variant,,ENST00000372410,NM_001136558.1;GPR107,intron_variant,,ENST00000483935,;GPR107,intron_variant,,ENST00000493417,;	T	ENST00000372406	Transcript	splice_acceptor_variant	-/7353	1364/1803	455/600				1		1	GPR107	HGNC	HGNC:17830	protein_coding	YES	CCDS48041.1	ENSP00000361483	Q5VW38		UPI00004589E0	NM_001136557.1				15/19																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	11	130114576	130114576	G	T	1	0	0	0	0	0	0	1	0	6525	956	33	2		2	GPR107	9	130114576	Splice_Site	SNP	G	C3L-00140_TP	42226081	130114576	8280141	21	4251											
ANXA8	0	.	GRCh38	chr10	47477163	47477163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcctctcaaacttgccaCtgagctcagacttcaaggtc	10	10	8	13	0	3	3	3	2	1	1	5	3	3	3	2	1	4	1	2	1	2	2	novel		C3L-00140_TP	C3L-00140_NB	C	C																c.353G>T	p.Ser118Ile	p.S118I	ENST00000611843	4/12	730	676	54	765	765	0	varscan-mutect	ANXA8,missense_variant,p.Ser118Ile,ENST00000611843,NM_001271702.1;ANXA8,missense_variant,p.Ser80Ile,ENST00000585281,NM_001040084.2;ANXA8,missense_variant,p.Ser18Ile,ENST00000583911,NM_001271703.1;ANXA8,missense_variant,p.Ser118Ile,ENST00000583874,;ANXA8,intron_variant,,ENST00000583448,;ANXA8,missense_variant,p.Ser80Ile,ENST00000577813,;ANXA8,downstream_gene_variant,,ENST00000602877,;	A	ENST00000611843	Transcript	missense_variant	578/2174	353/1098	118/365	S/I	aGt/aTt		1		-1	ANXA8	HGNC	HGNC:546	protein_coding	YES	CCDS73123.1	ENSP00000478026		A0A087WTN9	UPI000299A05A	NM_001271702.1	deleterious(0)		4/12		hmmpanther:PTHR10502,PROSITE_patterns:PS00223,Gene3D:1.10.220.10,Pfam_domain:PF00191,SMART_domains:SM00335,Superfamily_domains:SSF47874,Prints_domain:PR00196																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	11	47477163	47477163	C	A	1	0	0	0	0	1	0	0	0	832	565	20	2		2	ANXA8	10	47477163	Missense_Mutation	SNP	C	C3L-00140_TP		47477163	86320259	22	4252											
TBATA	0	.	GRCh38	chr10	70779659	70779659	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacagagatggtgggtatccCcatttgacagccggaaaaga	13	7	13	8	1	0	3	0	1	0	2	1	6	1	4	3	3	1	1	3	3	3	2	rs752753016		C3L-00140_TP	C3L-00140_NB	C	C																c.361G>T	p.Gly121Trp	p.G121W	ENST00000299290	5/11	58	51	7	49	49	0	strelka-mutect	TBATA,missense_variant,p.Gly121Trp,ENST00000456372,NM_001318241.1;TBATA,missense_variant,p.Gly121Trp,ENST00000299290,NM_001318243.1,NM_152710.2;	A	ENST00000299290	Transcript	missense_variant	751/1583	361/1056	121/351	G/W	Ggg/Tgg	rs752753016	1		-1	TBATA	HGNC	HGNC:23511	protein_coding	YES	CCDS7308.1	ENSP00000299290	Q96M53		UPI000013E57C	NM_001318243.1,NM_152710.2	deleterious(0)		5/11		hmmpanther:PTHR33772,hmmpanther:PTHR33772:SF3,Pfam_domain:PF15256																	MODERATE	1	SNV	1			1										PASS		rs752753016	.												A	3	1	11	70779659	70779659	C	A	1	0	0	0	0	1	0	0	0	15996	623	22	2		2	TBATA	10	70779659	Missense_Mutation	SNP	C	C3L-00140_TP	23302496	70779659	63017763	23	4253											
SFTPA1	0	.	GRCh38	chr10	79613209	79613211	+	In_Frame_Del	DEL	GAG	GAG	-																															ggcttccagctcatctagatGaggagctccaagccacactc																								novel		C3L-00140_TP	C3L-00140_NB	GAG	GAG																c.361_363delGAG	p.Glu121del	p.E121del	ENST00000419470	5/6	217	194	23	239	239	0	sindel-varindel-pindel	SFTPA1,inframe_deletion,p.Glu106del,ENST00000398636,NM_001164646.1,NM_005411.4,NM_001164644.1;SFTPA1,inframe_deletion,p.Glu121del,ENST00000419470,NM_001093770.2,NM_001164645.1;SFTPA1,inframe_deletion,p.Glu106del,ENST00000428376,NM_001164647.1;SFTPA1,inframe_deletion,p.Glu106del,ENST00000439264,;SFTPA1,inframe_deletion,p.Glu106del,ENST00000429958,;SFTPA1,downstream_gene_variant,,ENST00000486922,;	-	ENST00000419470	Transcript	inframe_deletion	434-436/2210	358-360/792	120/263	E/-	GAG/-		1		1	SFTPA1	HGNC	HGNC:10798	protein_coding	YES	CCDS44444.2	ENSP00000397082	Q8IWL2		UPI00006C104C	NM_001093770.2,NM_001164645.1			5/6		hmmpanther:PTHR24024,hmmpanther:PTHR24024:SF21,Superfamily_domains:SSF57944																	MODERATE	1	deletion	1	3		1										PASS		.	.												-	7	5	11	79613209	79613209	GAG	-	1	0	1	0	1	0	0	0	0	14449	1291	45	0		0	SFTPA1	10	79613209	In_Frame_Del	DEL	GAG	C3L-00140_TP	8833550	79613209	54184213	24	4254											
GBF1	0	.	GRCh38	chr10	102351312	102351312	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggcagatgctgtcaccCatgctcgttttgtgggcacg	7	11	12	11	2	1	1	1	0	0	1	2	1	1	1	1	2	2	5	1	2	0	2	novel		C3L-00140_TP	C3L-00140_NB	C	C																c.352C>G	p.His118Asp	p.H118D	ENST00000369983	5/40	146	129	17	205	205	0	strelka-varscan-mutect	GBF1,missense_variant,p.His118Asp,ENST00000369983,NM_001199379.1,NM_001199378.1,NM_004193.2;	G	ENST00000369983	Transcript	missense_variant	612/6403	352/5580	118/1859	H/D	Cat/Gat		1		1	GBF1	HGNC	HGNC:4181	protein_coding	YES	CCDS7533.1	ENSP00000359000	Q92538		UPI000012B228	NM_001199379.1,NM_001199378.1,NM_004193.2	deleterious(0)		5/40		hmmpanther:PTHR10663:SF167,hmmpanther:PTHR10663																	MODERATE	1	SNV	1			1										PASS		rs1243761951	.												G	3	3	11	102351312	102351312	C	G	1	0	0	0	0	1	0	0	0	6142	594	21	4		4	GBF1	10	102351312	Missense_Mutation	SNP	C	C3L-00140_TP	22738103	102351312	31446110	25	4255											
KDM2A	0	.	GRCh38	chr11	67254353	67254353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccaccttacagatcagtCctccaatctactcactgctg	10	10	5	16	0	3	1	2	0	1	1	5	1	5	1	4	0	4	1	4	0	3	2	novel		C3L-00140_TP	C3L-00140_NB	C	C																c.3242C>A	p.Ser1081Tyr	p.S1081Y	ENST00000529006	20/21	274	232	42	295	295	0	strelka-varscan-mutect	KDM2A,missense_variant,p.Ser1081Tyr,ENST00000529006,NM_012308.2;KDM2A,missense_variant,p.Ser1064Tyr,ENST00000308783,;KDM2A,missense_variant,p.Ser642Tyr,ENST00000530342,NM_001256405.1;KDM2A,3_prime_UTR_variant,,ENST00000398645,;KDM2A,non_coding_transcript_exon_variant,,ENST00000526258,;KDM2A,non_coding_transcript_exon_variant,,ENST00000531696,;KDM2A,non_coding_transcript_exon_variant,,ENST00000524657,;	A	ENST00000529006	Transcript	missense_variant	3688/6967	3242/3489	1081/1162	S/Y	tCc/tAc		1		1	KDM2A	HGNC	HGNC:13606	protein_coding	YES	CCDS44657.1	ENSP00000432786	Q9Y2K7	I3VM53	UPI00001678A9	NM_012308.2	deleterious(0)		20/21		Gene3D:3.80.10.10,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF3,SMART_domains:SM00367,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	11	67254353	67254353	C	A	1	0	0	0	0	1	0	0	0	8042	855	30	2		2	KDM2A	11	67254353	Missense_Mutation	SNP	C	C3L-00140_TP		67254353	67832269	26	4256											
KIAA1551	0	.	GRCh38	chr12	31983725	31983725	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaaaatggttgagccaCagaaaccttctctacccaat	13	10	6	12	0	1	3	0	2	1	1	2	3	1	3	4	1	3	1	4	1	5	4	novel		C3L-00140_TP	C3L-00140_NB	C	C																c.2770C>T	p.Gln924Ter	p.Q924*	ENST00000312561	4/6	153	133	20	185	185	0	strelka-varscan-mutect	KIAA1551,stop_gained,p.Gln924Ter,ENST00000312561,NM_018169.3;KIAA1551,downstream_gene_variant,,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	T	ENST00000312561	Transcript	stop_gained	3184/6230	2770/5244	924/1747	Q/*	Cag/Tag		1		1	KIAA1551	HGNC	HGNC:25559	protein_coding	YES	CCDS8725.2	ENSP00000310338	Q9HCM1		UPI0000577B2F	NM_018169.3			4/6		Pfam_domain:PF15395,hmmpanther:PTHR21604																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	11	31983725	31983725	C	T	1	0	0	0	0	0	1	0	0	8122	479	17	3		3	KIAA1551	12	31983725	Nonsense_Mutation	SNP	C	C3L-00140_TP		31983725	101291584	27	4257											
GRASP	0	.	GRCh38	chr12	52011048	52011048	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccattacagacttatggcCttcaccaccgggaggagcag	10	8	11	12	1	1	1	1	0	0	1	2	3	2	3	4	3	2	1	4	3	2	3	novel		C3L-00140_TP	C3L-00140_NB	C	C																c.361C>G	p.Leu121Val	p.L121V	ENST00000293662	4/8	332	275	57	299	299	0	strelka-varscan-mutect	GRASP,missense_variant,p.Leu121Val,ENST00000293662,NM_181711.3;GRASP,5_prime_UTR_variant,,ENST00000552049,NM_001271856.1;GRASP,5_prime_UTR_variant,,ENST00000546756,;GRASP,non_coding_transcript_exon_variant,,ENST00000552963,;GRASP,upstream_gene_variant,,ENST00000547749,;GRASP,non_coding_transcript_exon_variant,,ENST00000550809,;GRASP,upstream_gene_variant,,ENST00000552508,;GRASP,upstream_gene_variant,,ENST00000548505,;	G	ENST00000293662	Transcript	missense_variant	441/1933	361/1188	121/395	L/V	Ctt/Gtt		1		1	GRASP	HGNC	HGNC:18707	protein_coding	YES	CCDS8817.1	ENSP00000293662	Q7Z6J2		UPI00001A9479	NM_181711.3	deleterious(0)		4/8		PROSITE_profiles:PS50106,hmmpanther:PTHR15963,hmmpanther:PTHR15963:SF3,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		rs1438354260	.												G	3	3	11	52011048	52011048	C	G	1	0	0	0	0	1	0	0	0	6634	681	24	4		4	GRASP	12	52011048	Missense_Mutation	SNP	C	C3L-00140_TP	20027323	52011048	81264261	28	4258											
ESPL1	0	.	GRCh38	chr12	53286680	53286680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagactcagggccaaaaacGttctggacgagggcgccaaa	14	5	12	10	3	2	1	1	0	1	1	2	3	2	2	2	3	1	1	2	3	4	2	rs780384845		C3L-00140_TP	C3L-00140_NB	G	G																c.3944G>T	p.Arg1315Leu	p.R1315L	ENST00000257934	18/31	173	145	28	202	202	0	strelka-varscan-mutect	ESPL1,missense_variant,p.Arg1315Leu,ENST00000257934,NM_012291.4;ESPL1,missense_variant,p.Arg1315Leu,ENST00000552462,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,intron_variant,,ENST00000553016,;ESPL1,intron_variant,,ENST00000535123,;ESPL1,upstream_gene_variant,,ENST00000549154,;ESPL1,upstream_gene_variant,,ENST00000552600,;	T	ENST00000257934	Transcript	missense_variant	4035/6623	3944/6363	1315/2120	R/L	cGt/cTt	rs780384845	1		1	ESPL1	HGNC	HGNC:16856	protein_coding	YES	CCDS8852.1	ENSP00000257934	Q14674		UPI00003668C3	NM_012291.4	tolerated(0.31)		18/31																			MODERATE	1	SNV	5			1										PASS		rs780384845	.												T	3	4	11	53286680	53286680	G	T	1	0	0	0	0	1	0	0	0	5115	1145	40	1		1	ESPL1	12	53286680	Missense_Mutation	SNP	G	C3L-00140_TP	1275632	53286680	79988629	29	4259											
TMEM19	0	.	GRCh38	chr12	71700946	71700946	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgttttcttctgttcttaTtgccctcttgctcccaactg	3	20	5	13	0	5	0	0	0	5	0	6	0	6	0	2	0	3	3	2	0	2	7	rs746676238		C3L-00140_TP	C3L-00140_NB	T	T																c.962T>A	p.Ile321Asn	p.I321N	ENST00000266673	6/6	179	150	29	178	178	0	strelka-varscan-mutect	TMEM19,missense_variant,p.Ile321Asn,ENST00000266673,NM_018279.3;TMEM19,missense_variant,p.Ile137Asn,ENST00000550787,;TMEM19,intron_variant,,ENST00000546795,;TMEM19,downstream_gene_variant,,ENST00000549735,;TMEM19,downstream_gene_variant,,ENST00000550524,;TMEM19,downstream_gene_variant,,ENST00000546677,;RP11-293I14.2,downstream_gene_variant,,ENST00000548802,;	A	ENST00000266673	Transcript	missense_variant	1556/5656	962/1011	321/336	I/N	aTt/aAt	rs746676238	1		1	TMEM19	HGNC	HGNC:25605	protein_coding	YES	CCDS9002.1	ENSP00000266673	Q96HH6	A0A024RBA1	UPI000006EFAF	NM_018279.3	deleterious(0)		6/6		Pfam_domain:PF01940,hmmpanther:PTHR13353,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs746676238	.												A	3	1	11	71700946	71700946	T	A	1	0	0	0	0	1	0	0	0	16555	1493	52	4		4	TMEM19	12	71700946	Missense_Mutation	SNP	T	C3L-00140_TP	18414266	71700946	61574363	30	4260											
KLHL1	0	.	GRCh38	chr13	70107547	70107547	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcaggcgactctggctGggtccccagtgctcaaagct	7	9	13	12	1	2	1	1	1	1	0	3	2	3	1	2	3	3	4	2	3	1	1	novel		C3L-00140_TP	C3L-00140_NB	G	G																c.153C>A	p.=	p.P51P	ENST00000377844	1/11	67	53	14	82	82	0	strelka-varscan-mutect	KLHL1,synonymous_variant,p.=,ENST00000377844,NM_020866.2;KLHL1,synonymous_variant,p.=,ENST00000545028,NM_001286725.1;ATXN8OS,non_coding_transcript_exon_variant,,ENST00000414504,;ATXN8OS,upstream_gene_variant,,ENST00000424524,;	T	ENST00000377844	Transcript	synonymous_variant	913/4115	153/2247	51/748	P	ccC/ccA		1		-1	KLHL1	HGNC	HGNC:6352	protein_coding	YES	CCDS9445.1	ENSP00000367075	Q9NR64		UPI000004B136	NM_020866.2			1/11																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	11	70107547	70107547	G	T	1	0	0	0	0	0	0	0	1	8229	1335	47	2		2	KLHL1	13	70107547	Silent	SNP	G	C3L-00140_TP		70107547	44256781	31	4261											
PSMA6	0	.	GRCh38	chr14	35310794	35310794	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggcagctaactggaaatAcaagtatggctatgagattc	14	10	11	6	0	0	2	0	2	0	1	1	4	0	3	0	3	3	4	0	3	6	5	novel		C3L-00140_TP	C3L-00140_NB	A	A																c.308A>T	p.Tyr103Phe	p.Y103F	ENST00000261479	4/7	395	342	53	404	403	1	strelka-varscan-mutect	PSMA6,missense_variant,p.Tyr103Phe,ENST00000261479,NM_002791.2;PSMA6,missense_variant,p.Tyr24Phe,ENST00000555764,NM_001282232.1;PSMA6,missense_variant,p.Tyr24Phe,ENST00000622405,NM_001282233.1;PSMA6,missense_variant,p.Tyr84Phe,ENST00000540871,NM_001282234.1;PSMA6,missense_variant,p.Tyr103Phe,ENST00000553809,;PSMA6,missense_variant,p.Tyr103Phe,ENST00000556506,;PSMA6,downstream_gene_variant,,ENST00000627895,;PSMA6,upstream_gene_variant,,ENST00000556221,;PSMA6,missense_variant,p.Tyr103Phe,ENST00000554961,;RP11-561B11.2,3_prime_UTR_variant,,ENST00000557565,;PSMA6,3_prime_UTR_variant,,ENST00000554541,;PSMA6,3_prime_UTR_variant,,ENST00000554620,;PSMA6,3_prime_UTR_variant,,ENST00000553688,;PSMA6,non_coding_transcript_exon_variant,,ENST00000554843,;PSMA6,non_coding_transcript_exon_variant,,ENST00000555050,;PSMA6,upstream_gene_variant,,ENST00000554457,;PSMA6,downstream_gene_variant,,ENST00000556167,;	T	ENST00000261479	Transcript	missense_variant	428/1029	308/741	103/246	Y/F	tAc/tTc		1		1	PSMA6	HGNC	HGNC:9535	protein_coding	YES	CCDS9655.1	ENSP00000261479	P60900	A0A140VK44	UPI0000001C1E	NM_002791.2	tolerated(0.26)		4/7		PROSITE_profiles:PS51475,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF64,Gene3D:3.60.20.10,Pfam_domain:PF00227,Superfamily_domains:SSF56235																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	11	35310794	35310794	A	T	1	0	0	0	0	1	0	0	0	12822	391	14	4		4	PSMA6	14	35310794	Missense_Mutation	SNP	A	C3L-00140_TP		35310794	71732924	32	4262											
SEL1L	0	.	GRCh38	chr14	81477157	81477157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccaaaagctggtccatatCaagttgggtgaacatatctc	12	11	8	10	0	2	1	1	1	1	0	5	1	4	1	2	2	2	2	2	2	6	3	novel		C3L-00140_TP	C3L-00140_NB	C	C																c.2200G>C	p.Asp734His	p.D734H	ENST00000336735	21/21	169	137	32	164	164	0	strelka-varscan-mutect	SEL1L,missense_variant,p.Asp734His,ENST00000336735,NM_005065.5;SEL1L,downstream_gene_variant,,ENST00000554293,;	G	ENST00000336735	Transcript	missense_variant	2317/7925	2200/2385	734/794	D/H	Gat/Cat		1		-1	SEL1L	HGNC	HGNC:10717	protein_coding	YES	CCDS9876.1	ENSP00000337053	Q9UBV2		UPI0000135746	NM_005065.5	deleterious(0.01)		21/21																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	11	81477157	81477157	C	G	1	0	0	0	0	1	0	0	0	14287	826	29	4		4	SEL1L	14	81477157	Missense_Mutation	SNP	C	C3L-00140_TP	46166363	81477157	25566561	33	4263											
ADAMTS7	0	.	GRCh38	chr15	78798008	78798008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgccagcctctccggggCctgacgcttgtacaccacat	6	9	10	16	2	1	1	0	1	1	0	2	1	1	1	5	2	3	2	5	2	1	2	novel		C3L-00140_TP	C3L-00140_NB	C	C																c.562G>T	p.Ala188Ser	p.A188S	ENST00000388820	3/24	175	144	31	191	191	0	strelka-varscan-mutect	ADAMTS7,missense_variant,p.Ala188Ser,ENST00000388820,NM_014272.3;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000566303,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000565793,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000568712,;	A	ENST00000388820	Transcript	missense_variant	773/5490	562/5061	188/1686	A/S	Gcc/Tcc		1		-1	ADAMTS7	HGNC	HGNC:223	protein_coding	YES	CCDS32303.1	ENSP00000373472	Q9UKP4		UPI00002263B3	NM_014272.3	tolerated(0.17)		3/24		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	11	78798008	78798008	C	A	1	0	0	0	0	1	0	0	0	315	739	26	2		2	ADAMTS7	15	78798008	Missense_Mutation	SNP	C	C3L-00140_TP		78798008	23193181	34	4264											
CPEB1	0	.	GRCh38	chr15	82553467	82553467	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attacctttaggcatattacCtttgggaggacaccggggat	10	12	11	8	1	0	0	0	0	0	0	0	3	0	3	3	5	2	1	3	5	4	6	novel		C3L-00140_TP	C3L-00140_NB	C	C																c.1063G>T	p.Gly355Trp	p.G355W	ENST00000615198	7/12	198	165	33	181	181	0	strelka-varscan-mutect	CPEB1,missense_variant,p.Gly382Trp,ENST00000614918,;CPEB1,missense_variant,p.Gly355Trp,ENST00000611031,;CPEB1,missense_variant,p.Gly415Cys,ENST00000617958,;CPEB1,missense_variant,p.Gly280Cys,ENST00000618449,NM_001079533.1;CPEB1,missense_variant,p.Gly280Trp,ENST00000620182,NM_001288819.1;CPEB1,missense_variant,p.Gly280Trp,ENST00000617522,;CPEB1,missense_variant,p.Gly355Trp,ENST00000615198,NM_030594.4;CPEB1,missense_variant,p.Gly280Trp,ENST00000617462,NM_001079535.1;CPEB1,missense_variant,p.Gly358Trp,ENST00000616959,;CPEB1,missense_variant,p.Gly280Trp,ENST00000611163,NM_001079534.1,NM_001288820.1;RP11-152F13.10,missense_variant,p.Gly90Trp,ENST00000562833,;CPEB1,downstream_gene_variant,,ENST00000568994,;RP11-379H8.1,intron_variant,,ENST00000621893,;CPEB1,splice_region_variant,,ENST00000618698,;CPEB1,splice_region_variant,,ENST00000614977,;CPEB1,downstream_gene_variant,,ENST00000570205,;	A	ENST00000615198	Transcript	missense_variant,splice_region_variant	1170/2112	1063/1686	355/561	G/W	Ggg/Tgg		1		-1	CPEB1	HGNC	HGNC:21744	protein_coding	YES	CCDS45329.2	ENSP00000477715	Q9BZB8		UPI000018CEBD	NM_030594.4	deleterious(0)		7/12		Gene3D:3.30.70.330,Pfam_domain:PF16367,PROSITE_profiles:PS50102,hmmpanther:PTHR12566,hmmpanther:PTHR12566:SF9,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	11	82553467	82553467	C	A	1	0	0	0	0	1	0	0	0	3594	695	24	2		2	CPEB1	15	82553467	Missense_Mutation	SNP	C	C3L-00140_TP	3755459	82553467	19437722	35	4265											
FANCA	0	.	GRCh38	chr16	89792016	89792016	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaacctcctgcgtttccAgaacttcttgcaaatggcca	10	11	8	12	1	1	2	0	1	1	1	3	2	3	2	4	1	4	2	4	1	3	3	novel		C3L-00140_TP	C3L-00140_NB	A	A																c.1136T>A	p.Leu379Gln	p.L379Q	ENST00000389301	13/43	496	420	76	512	512	0	strelka-varscan-mutect	FANCA,missense_variant,p.Leu379Gln,ENST00000389301,NM_000135.2;FANCA,missense_variant,p.Leu379Gln,ENST00000568369,NM_001286167.1;FANCA,3_prime_UTR_variant,,ENST00000567621,;FANCA,non_coding_transcript_exon_variant,,ENST00000566133,;FANCA,upstream_gene_variant,,ENST00000563767,;FANCA,downstream_gene_variant,,ENST00000566409,;	T	ENST00000389301	Transcript	missense_variant	1167/5451	1136/4368	379/1455	L/Q	cTg/cAg		1		-1	FANCA	HGNC	HGNC:3582	protein_coding	YES	CCDS32515.1	ENSP00000373952	O15360		UPI0000520A1A	NM_000135.2	deleterious(0)		13/43		Pfam_domain:PF15865,hmmpanther:PTHR12047,hmmpanther:PTHR12047:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	11	89792016	89792016	A	T	1	0	0	0	0	1	0	0	0	5521	188	7	4		4	FANCA	16	89792016	Missense_Mutation	SNP	A	C3L-00140_TP		89792016	546329	36	4266											
ATAD5	0	.	GRCh38	chr17	30835976	30835976	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccactcaaaaagcagccaActtatcggaaaagcacagct	16	7	6	12	1	1	0	1	0	0	0	3	1	2	1	2	1	5	3	2	1	6	2	novel		C3L-00140_TP	C3L-00140_NB	A	A																c.1895A>G	p.Asn632Ser	p.N632S	ENST00000321990	2/23	133	109	24	129	129	0	strelka-varscan-mutect	ATAD5,missense_variant,p.Asn632Ser,ENST00000321990,NM_024857.4;CTD-2349P21.11,intron_variant,,ENST00000580873,;ATAD5,missense_variant,p.Asn632Ser,ENST00000578295,;ATAD5,non_coding_transcript_exon_variant,,ENST00000585133,;CTD-2349P21.1,downstream_gene_variant,,ENST00000490847,;	G	ENST00000321990	Transcript	missense_variant	2273/6869	1895/5535	632/1844	N/S	aAc/aGc		1		1	ATAD5	HGNC	HGNC:25752	protein_coding	YES	CCDS11260.1	ENSP00000313171	Q96QE3		UPI0000071E9E	NM_024857.4	tolerated(0.91)		2/23																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	11	30835976	30835976	A	G	1	0	0	0	0	1	0	0	0	1224	43	2	5		5	ATAD5	17	30835976	Missense_Mutation	SNP	A	C3L-00140_TP		30835976	52421465	37	4267											
KRT12	0	.	GRCh38	chr17	40861707	40861707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgagatgagaccacctcaCcattcaccatctcctgcaca	11	9	5	16	0	3	2	2	2	1	2	4	4	3	2	5	0	1	1	5	0	0	2	novel		C3L-00140_TP	C3L-00140_NB	C	C																c.1439G>T	p.Gly480Val	p.G480V	ENST00000251643	8/8	284	234	50	278	278	0	strelka-varscan-mutect	KRT12,missense_variant,p.Gly480Val,ENST00000251643,NM_000223.3;RP5-1110E20.1,intron_variant,,ENST00000579136,;	A	ENST00000251643	Transcript	missense_variant	1463/1867	1439/1485	480/494	G/V	gGt/gTt		1		-1	KRT12	HGNC	HGNC:6414	protein_coding	YES	CCDS11378.1	ENSP00000251643	Q99456		UPI000012DAE4	NM_000223.3	deleterious(0)		8/8		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF115																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	11	40861707	40861707	C	A	1	0	0	0	0	1	0	0	0	8331	507	18	2		2	KRT12	17	40861707	Missense_Mutation	SNP	C	C3L-00140_TP	10025731	40861707	42395734	38	4268											
SGCA	0	.	GRCh38	chr17	50167983	50167983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggacagctttgataccactCggcagaggctggtgctggag	8	8	16	9	1	0	2	0	1	0	1	1	4	0	4	1	5	3	4	1	5	1	2	rs200075504		C3L-00140_TP	C3L-00140_NB	C	C																c.349C>T	p.Arg117Trp	p.R117W	ENST00000262018	4/10	461	381	80	481	481	0	strelka-varscan-mutect	SGCA,missense_variant,p.Arg117Trp,ENST00000262018,NM_000023.2;SGCA,missense_variant,p.Arg117Trp,ENST00000344627,NM_001135697.1;SGCA,missense_variant,p.Arg24Trp,ENST00000511303,;SGCA,upstream_gene_variant,,ENST00000504073,;RP11-893F2.14,upstream_gene_variant,,ENST00000572855,;SGCA,non_coding_transcript_exon_variant,,ENST00000513942,;HILS1,downstream_gene_variant,,ENST00000504307,;SGCA,upstream_gene_variant,,ENST00000508382,;SGCA,missense_variant,p.Arg117Trp,ENST00000513821,;SGCA,3_prime_UTR_variant,,ENST00000502555,;SGCA,3_prime_UTR_variant,,ENST00000512526,;SGCA,3_prime_UTR_variant,,ENST00000514934,;HILS1,downstream_gene_variant,,ENST00000545329,;	T	ENST00000262018	Transcript	missense_variant	385/1432	349/1164	117/387	R/W	Cgg/Tgg	rs200075504	1		1	SGCA	HGNC	HGNC:10805	protein_coding	YES	CCDS32679.1	ENSP00000262018	Q16586	A0A0S2Z4Q1	UPI0000135907	NM_000023.2	deleterious(0.03)		4/10		Gene3D:2.60.40.10,Pfam_domain:PF05510,hmmpanther:PTHR10132,hmmpanther:PTHR10132:SF16,SMART_domains:SM00736,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs200075504	.												T	3	4	11	50167983	50167983	C	T	1	0	0	0	0	1	0	0	0	14459	875	31	1		1	SGCA	17	50167983	Missense_Mutation	SNP	C	C3L-00140_TP	9306276	50167983	33089458	39	4269											
KIF2B	0	.	GRCh38	chr17	53824508	53824508	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtcagaacaagcctcacaCcccattcagagccagcaaac	14	4	8	15	0	3	2	3	0	0	2	3	2	3	2	4	1	5	1	4	1	3	1	rs374451533		C3L-00140_TP	C3L-00140_NB	C	C																c.1475C>A	p.Thr492Asn	p.T492N	ENST00000268919	1/1	94	73	21	161	161	0	strelka-varscan-mutect	KIF2B,missense_variant,p.Thr492Asn,ENST00000268919,NM_032559.4;	A	ENST00000268919	Transcript	missense_variant	1608/2313	1475/2022	492/673	T/N	aCc/aAc	rs374451533	1		1	KIF2B	HGNC	HGNC:29443	protein_coding	YES	CCDS32685.1	ENSP00000268919	Q8N4N8	A0A140VKG5	UPI000013D7E6	NM_032559.4	deleterious(0.01)		1/1		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF524,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380																	MODERATE	1	SNV				1										PASS		rs374451533	.												A	3	1	11	53824508	53824508	C	A	1	0	0	0	0	1	0	0	0	8163	507	18	2		2	KIF2B	17	53824508	Missense_Mutation	SNP	C	C3L-00140_TP	3656525	53824508	29432933	40	4270											
USP36	0	.	GRCh38	chr17	78802479	78802479	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctttctttttttctttttcTttttccttggagactcttcc	2	25	4	10	0	4	1	0	0	4	1	6	2	6	1	2	1	0	1	2	1	0	10	rs75975389		C3L-00140_TP	C3L-00140_NB	T	T																c.2867A>G	p.Lys956Arg	p.K956R	ENST00000542802	17/21	217	205	12	196	194	2	varscan-mutect	USP36,missense_variant,p.Lys956Arg,ENST00000542802,NM_001321291.1;USP36,missense_variant,p.Lys956Arg,ENST00000312010,NM_025090.3;USP36,upstream_gene_variant,,ENST00000592231,;USP36,downstream_gene_variant,,ENST00000449938,;USP36,upstream_gene_variant,,ENST00000588130,;USP36,missense_variant,p.Lys956Arg,ENST00000589225,;USP36,missense_variant,p.Lys956Arg,ENST00000588086,;USP36,upstream_gene_variant,,ENST00000587010,;USP36,upstream_gene_variant,,ENST00000587379,;USP36,upstream_gene_variant,,ENST00000591052,;	C	ENST00000542802	Transcript	missense_variant	3311/6063	2867/3372	956/1123	K/R	aAg/aGg	rs75975389,COSM5013247,COSM5013248	1		-1	USP36	HGNC	HGNC:20062	protein_coding	YES	CCDS32755.1	ENSP00000441214	Q9P275	A0A024R8V6	UPI00000398BB	NM_001321291.1	tolerated(0.2)		17/21		Low_complexity_(Seg):seg											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs75975389	.												C	3	2	11	78802479	78802479	T	C	1	0	0	0	0	1	0	0	0	17609	1609	56	5		5	USP36	17	78802479	Missense_Mutation	SNP	T	C3L-00140_TP	24977971	78802479	4454962	41	4271											
STK11	0	.	GRCh38	chr19	1207126	1207126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgctggactcggagacGctgtgcaggagggccgtcaa	8	6	18	9	3	1	1	1	0	0	1	2	5	1	3	1	5	2	3	1	5	1	0	rs768532101		C3L-00140_TP	C3L-00140_NB	G	G																c.213G>A	p.=	p.T71T	ENST00000326873	1/10	214	180	34	280	280	0	strelka-mutect	STK11,synonymous_variant,p.=,ENST00000586243,;STK11,synonymous_variant,p.=,ENST00000326873,NM_000455.4;STK11,synonymous_variant,p.=,ENST00000585851,;STK11,intron_variant,,ENST00000585748,;STK11,synonymous_variant,p.=,ENST00000593219,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;HMGB2P1,downstream_gene_variant,,ENST00000591146,;	A	ENST00000326873	Transcript	synonymous_variant	663/2611	213/1302	71/433	T	acG/acA	rs768532101	1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4			1/10		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		rs768532101	.												A	2	1	11	1207126	1207126	G	A	1	0	0	0	0	0	0	0	1	15664	1074	38	1		1	STK11	19	1207126	Silent	SNP	G	C3L-00140_TP		1207126	57410490	42	4272											
SCAMP4	0	.	GRCh38	chr19	1918950	1918950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggagcccagtttgtcctgAccgtcatccaggcgattggc	6	10	12	13	3	1	1	1	1	0	0	4	3	3	2	4	3	1	1	4	3	0	2	novel		C3L-00140_TP	C3L-00140_NB	A	A																c.355A>G	p.Thr119Ala	p.T119A	ENST00000316097	5/7	257	224	33	330	330	0	strelka-varscan-mutect	SCAMP4,missense_variant,p.Thr119Ala,ENST00000316097,NM_079834.2;SCAMP4,missense_variant,p.Thr75Ala,ENST00000414057,;SCAMP4,missense_variant,p.Thr119Ala,ENST00000621748,;SCAMP4,missense_variant,p.Thr119Ala,ENST00000411971,;SCAMP4,intron_variant,,ENST00000409472,;SCAMP4,downstream_gene_variant,,ENST00000590266,;SCAMP4,downstream_gene_variant,,ENST00000588907,;SCAMP4,non_coding_transcript_exon_variant,,ENST00000489554,;SCAMP4,intron_variant,,ENST00000585335,;SCAMP4,3_prime_UTR_variant,,ENST00000460767,;SCAMP4,non_coding_transcript_exon_variant,,ENST00000452128,;SCAMP4,upstream_gene_variant,,ENST00000472442,;	G	ENST00000316097	Transcript	missense_variant	622/2684	355/690	119/229	T/A	Acc/Gcc		1		1	SCAMP4	HGNC	HGNC:30385	protein_coding	YES	CCDS45903.1	ENSP00000316007	Q969E2		UPI000006F786	NM_079834.2	tolerated(0.5)		5/7		Transmembrane_helices:TMhelix,hmmpanther:PTHR10687:SF11,hmmpanther:PTHR10687,Pfam_domain:PF04144																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	11	1918950	1918950	A	G	1	0	0	0	0	1	0	0	0	14140	275	10	5		5	SCAMP4	19	1918950	Missense_Mutation	SNP	A	C3L-00140_TP	711824	1918950	56698666	43	4273											
MKNK2	0	.	GRCh38	chr19	2039836	2039836	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagccgcgaaggacgtgAggtctttggcacagctgttc	7	9	13	12	3	2	1	1	1	1	0	3	3	2	2	2	3	2	3	2	3	1	2	novel		C3L-00140_TP	C3L-00140_NB	A	A																c.1175T>C	p.Leu392Pro	p.L392P	ENST00000250896	14/14	88	74	14	89	89	0	strelka-varscan-mutect	MKNK2,missense_variant,p.Leu392Pro,ENST00000250896,NM_199054.2;MKNK2,missense_variant,p.Leu392Pro,ENST00000591601,;MKNK2,3_prime_UTR_variant,,ENST00000588014,;MKNK2,intron_variant,,ENST00000309340,NM_017572.3;MKNK2,intron_variant,,ENST00000591142,;MKNK2,downstream_gene_variant,,ENST00000591588,;BTBD2,upstream_gene_variant,,ENST00000590646,;BTBD2,upstream_gene_variant,,ENST00000587742,;BTBD2,upstream_gene_variant,,ENST00000588395,;MKNK2,3_prime_UTR_variant,,ENST00000586828,;MKNK2,3_prime_UTR_variant,,ENST00000589441,;MKNK2,non_coding_transcript_exon_variant,,ENST00000587416,;MKNK2,downstream_gene_variant,,ENST00000586620,;MKNK2,downstream_gene_variant,,ENST00000585667,;	G	ENST00000250896	Transcript	missense_variant	1420/3774	1175/1398	392/465	L/P	cTc/cCc		1		-1	MKNK2	HGNC	HGNC:7111	protein_coding	YES	CCDS12080.1	ENSP00000250896	Q9HBH9		UPI000006E9B4	NM_199054.2	deleterious(0)		14/14		hmmpanther:PTHR24349:SF158,hmmpanther:PTHR24349,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	11	2039836	2039836	A	G	1	0	0	0	0	1	0	0	0	9572	304	11	5		5	MKNK2	19	2039836	Missense_Mutation	SNP	A	C3L-00140_TP	120886	2039836	56577780	44	4274											
OR7A17	0	.	GRCh38	chr19	14880810	14880810	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaaggtggatgacctgAttaagttcacagaaaaagtg	15	8	12	6	0	1	3	1	2	0	1	1	4	1	4	1	3	0	2	1	3	4	2	novel		C3L-00140_TP	C3L-00140_NB	A	A																c.546T>C	p.=	p.N182N	ENST00000327462	1/1	203	173	30	257	257	0	strelka-varscan-mutect	OR7A17,synonymous_variant,p.=,ENST00000327462,NM_030901.1;	G	ENST00000327462	Transcript	synonymous_variant	643/1027	546/930	182/309	N	aaT/aaC		1		-1	OR7A17	HGNC	HGNC:8363	protein_coding	YES	CCDS12319.1	ENSP00000328144	O14581	A0A126GVR5	UPI0000041DF9	NM_030901.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF263,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	LOW	1	SNV				1										PASS		.	.												G	2	3	11	14880810	14880810	A	G	1	0	0	0	0	0	0	0	1	11285	330	12	5		5	OR7A17	19	14880810	Silent	SNP	A	C3L-00140_TP	12840974	14880810	43736806	45	4275											
HM13	0	.	GRCh38	chr20	31527510	31527510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagacatgcctgaaacaatCaccagccgggatgccgcccg	11	5	10	15	3	2	2	2	1	0	1	2	3	2	3	5	1	4	0	5	1	2	0	novel		C3L-00140_TP	C3L-00140_NB	C	C																c.210C>T	p.=	p.I70I	ENST00000398174	2/13	127	114	13	116	116	0	strelka-mutect	HM13,synonymous_variant,p.=,ENST00000498035,NM_178582.2;HM13,synonymous_variant,p.=,ENST00000398174,NM_178581.2;HM13,synonymous_variant,p.=,ENST00000335574,NM_178580.2;HM13,synonymous_variant,p.=,ENST00000340852,NM_030789.3;HM13,synonymous_variant,p.=,ENST00000344042,;HM13,non_coding_transcript_exon_variant,,ENST00000496438,;HM13,non_coding_transcript_exon_variant,,ENST00000460225,;HM13,non_coding_transcript_exon_variant,,ENST00000466766,;	T	ENST00000398174	Transcript	synonymous_variant	334/3792	210/1281	70/426	I	atC/atT		1		1	HM13	HGNC	HGNC:16435	protein_coding	YES	CCDS42861.1	ENSP00000381237	Q8TCT9		UPI000001358F	NM_178581.2			2/13		Pfam_domain:PF04258,hmmpanther:PTHR12174,hmmpanther:PTHR12174:SF23,SMART_domains:SM00730																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	11	31527510	31527510	C	T	1	0	0	0	0	0	0	0	1	7107	816	29	3		3	HM13	20	31527510	Silent	SNP	C	C3L-00140_TP		31527510	32916657	46	4276											
SIM2	0	.	GRCh38	chr21	36726165	36726165	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaggcagtatatgctggAcatgtccctgtacgactcct	9	11	10	11	1	1	0	1	0	0	0	3	3	3	1	2	2	2	4	2	2	3	3	rs752152751		C3L-00140_TP	C3L-00140_NB	A	A																c.590A>C	p.Asp197Ala	p.D197A	ENST00000290399	6/11	245	212	33	224	224	0	strelka-varscan-mutect	SIM2,missense_variant,p.Asp197Ala,ENST00000290399,NM_005069.4,NM_009586.3;SIM2,missense_variant,p.Asp135Ala,ENST00000431229,;SIM2,non_coding_transcript_exon_variant,,ENST00000481185,;	C	ENST00000290399	Transcript	missense_variant	1203/4442	590/2004	197/667	D/A	gAc/gCc	rs752152751	1		1	SIM2	HGNC	HGNC:10883	protein_coding	YES	CCDS13646.1	ENSP00000290399	Q14190		UPI000013599A	NM_005069.4,NM_009586.3	deleterious(0.01)		6/11		hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF19																	MODERATE	1	SNV	1			1										PASS		rs752152751	.												C	3	2	11	36726165	36726165	A	C	1	0	0	0	0	1	0	0	0	14587	275	10	5		5	SIM2	21	36726165	Missense_Mutation	SNP	A	C3L-00140_TP		36726165	9983818	47	4277											
MSN	0	.	GRCh38	chrX	65737229	65737229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgagcaggaacggaagcGtgcccagagcgaggctgaaa	13	4	15	9	3	0	3	0	2	0	1	0	6	0	5	1	3	5	2	1	3	3	1	rs368873074		C3L-00140_TP	C3L-00140_NB	G	G																c.1142G>T	p.Arg381Leu	p.R381L	ENST00000360270	10/13	84	56	28	99	99	0	strelka-varscan-mutect	MSN,missense_variant,p.Arg381Leu,ENST00000360270,NM_002444.2;	T	ENST00000360270	Transcript	missense_variant	1314/3944	1142/1734	381/577	R/L	cGt/cTt	rs368873074,COSM1124087	1		1	MSN	HGNC	HGNC:7373	protein_coding	YES	CCDS14382.1	ENSP00000353408	P26038	V9HWC0	UPI000013DA94	NM_002444.2	tolerated(0.3)		10/13		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF26,Pfam_domain:PF00769,PIRSF_domain:PIRSF002305											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs368873074	.												T	3	4	11	65737229	65737229	G	T	1	0	0	0	0	1	0	0	0	9868	1145	40	1		1	MSN	23	65737229	Missense_Mutation	SNP	G	C3L-00140_TP		65737229	90303666	48	4278											
NAP1L2	0	.	GRCh38	chrX	73213828	73213830	+	In_Frame_Del	DEL	TCC	TCC	-																															ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc																								rs369450592		C3L-00140_TP	C3L-00140_NB	TCC	TCC																c.663_665delGGA	p.Glu221del	p.E221del	ENST00000373517	1/1	45	38	7	52	52	0	sindel-varindel	NAP1L2,inframe_deletion,p.Glu221del,ENST00000373517,NM_021963.3;	-	ENST00000373517	Transcript	inframe_deletion	1019-1021/2550	663-665/1383	221-222/460	ED/D	gaGGAc/gac	rs369450592,COSM1125153	1		-1	NAP1L2	HGNC	HGNC:7638	protein_coding	YES	CCDS14423.1	ENSP00000362616	Q9ULW6		UPI00001303E8	NM_021963.3			1/1		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00956,Superfamily_domains:SSF143113											0,1						MODERATE	1	deletion			0,1	1										PASS		.	.												-	7	5	11	73213828	73213828	TCC	-	1	0	1	0	1	0	0	0	0	10166	1667	58	0		0	NAP1L2	23	73213828	In_Frame_Del	DEL	TCC	C3L-00140_TP	7476599	73213828	82827067	49	4279											
FO538757.1	0	.	GRCh38	chr1	187375	187375	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcccagaacccagctcaCctaccttgagaggctcggct	9	7	8	17	1	1	2	1	1	0	2	3	3	2	2	5	2	3	3	5	2	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.880+1G>T		p.X294_splice	ENST00000623083		389	365	24	293	293	0	varscan-mutect	FO538757.1,splice_donor_variant,,ENST00000623083,;FO538757.1,splice_donor_variant,,ENST00000623834,;FO538757.1,splice_region_variant,,ENST00000624735,;FO538757.2,downstream_gene_variant,,ENST00000624431,;MIR6859-2,downstream_gene_variant,,ENST00000612080,;	A	ENST00000623083	Transcript	splice_donor_variant	-/1687	880/1395	294/464				1		-1	FO538757.1	Clone_based_ensembl_gene		protein_coding	YES		ENSP00000485442		A0A096LP75	UPI000514C5DF					7/10																		HIGH		SNV	5			1										PASS		.	.												A	5	1	12	187375	187375	C	A	1	0	0	0	0	0	0	1	0	5837	521	18	2		2	FO538757.1	1	187375	Splice_Site	SNP	C	C3L-00144_TP		187375	248769047	1	4280											
ATAD3B	0	.	GRCh38	chr1	1495785	1495785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcttgtggtggcggtcggCcgttctgccccccagggcac	2	10	15	14	3	2	0	0	0	2	0	3	0	2	0	4	5	1	2	4	5	0	2	rs9792879		C3L-00144_TP	C3L-00144_NB	C	C																c.1915C>T	p.Pro639Ser	p.P639S	ENST00000308647	16/16	33	29	4	44	44	0	varscan-mutect	ATAD3B,missense_variant,p.Pro639Ser,ENST00000308647,NM_031921.4;ATAD3B,non_coding_transcript_exon_variant,,ENST00000472194,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000474481,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000485748,;	T	ENST00000308647	Transcript	missense_variant	2031/2448	1915/1947	639/648	P/S	Ccg/Tcg	rs9792879	1		1	ATAD3B	HGNC	HGNC:24007	protein_coding	YES	CCDS30.1	ENSP00000311766	Q5T9A4		UPI000013E044	NM_031921.4	tolerated_low_confidence(0.34)		16/16																			MODERATE	1	SNV	1			1										PASS		rs9792879	.												T	3	4	12	1495785	1495785	C	T	1	0	0	0	0	1	0	0	0	1222	739	26	3		3	ATAD3B	1	1495785	Missense_Mutation	SNP	C	C3L-00144_TP	1308410	1495785	247460637	2	4281											
CDK11A	0	.	GRCh38	chr1	1708180	1708180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccagggaggttcttacCaaccaagaggtggttttcat	9	12	11	9	0	3	1	1	0	2	1	4	2	3	2	3	4	2	2	3	4	3	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1069G>A	p.Val357Ile	p.V357I	ENST00000404249	10/20	22	17	5	40	40	0	strelka-varscan-mutect	CDK11A,missense_variant,p.Val323Ile,ENST00000356200,;CDK11A,missense_variant,p.Val360Ile,ENST00000378633,;CDK11A,missense_variant,p.Val357Ile,ENST00000404249,NM_024011.2;CDK11A,missense_variant,p.Val356Ile,ENST00000357760,;CDK11A,missense_variant,p.Val323Ile,ENST00000378638,;CDK11A,missense_variant,p.Val347Ile,ENST00000358779,NM_033529.2;RP1-283E3.8,splice_region_variant,,ENST00000598846,;CDK11A,upstream_gene_variant,,ENST00000495016,;CDK11A,missense_variant,p.Val357Ile,ENST00000460465,;CDK11A,missense_variant,p.Val370Ile,ENST00000509982,;CDK11A,splice_region_variant,,ENST00000356937,;CDK11A,splice_region_variant,,ENST00000492390,;CDK11A,splice_region_variant,,ENST00000474916,;CDK11A,upstream_gene_variant,,ENST00000463652,;CDK11A,upstream_gene_variant,,ENST00000478901,;CDK11A,upstream_gene_variant,,ENST00000468800,;CDK11A,upstream_gene_variant,,ENST00000468397,;CDK11A,upstream_gene_variant,,ENST00000491311,;CDK11A,upstream_gene_variant,,ENST00000489300,;CDK11A,upstream_gene_variant,,ENST00000464748,;	T	ENST00000404249	Transcript	missense_variant,splice_region_variant	1149/2449	1069/2343	357/780	V/I	Gtt/Att		1		-1	CDK11A	HGNC	HGNC:1730	protein_coding	YES	CCDS44042.1	ENSP00000384442	Q9UQ88		UPI000022B1E1	NM_024011.2	deleterious_low_confidence(0.05)		10/20																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	1708180	1708180	C	T	1	0	0	0	0	1	0	0	0	2830	608	21	3		3	CDK11A	1	1708180	Missense_Mutation	SNP	C	C3L-00144_TP	212395	1708180	247248242	3	4282											
PRKCZ	0	.	GRCh38	chr1	2184687	2184687	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgagcccgtgcagctgacCccagacgatgagtgagtccc	9	5	13	14	3	0	4	0	3	0	1	1	6	1	4	4	0	4	2	4	0	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1680C>G	p.=	p.T560T	ENST00000378567	17/18	97	69	28	79	79	0	strelka-varscan-mutect	PRKCZ,synonymous_variant,p.=,ENST00000378567,NM_002744.4;PRKCZ,synonymous_variant,p.=,ENST00000400921,NM_001033581.1,NM_001033582.1;PRKCZ,synonymous_variant,p.=,ENST00000461106,NM_001242874.1;FAAP20,3_prime_UTR_variant,,ENST00000400919,NM_001256945.1;FAAP20,downstream_gene_variant,,ENST00000400918,NM_001282673.1;FAAP20,downstream_gene_variant,,ENST00000378546,NM_182533.2;FAAP20,downstream_gene_variant,,ENST00000378543,NM_001256947.1;RP11-181G12.2,upstream_gene_variant,,ENST00000333854,;RP11-181G12.2,upstream_gene_variant,,ENST00000444529,;FAAP20,non_coding_transcript_exon_variant,,ENST00000469733,;PRKCZ,non_coding_transcript_exon_variant,,ENST00000479263,;FAAP20,downstream_gene_variant,,ENST00000487186,;FAAP20,downstream_gene_variant,,ENST00000401813,;FAAP20,downstream_gene_variant,,ENST00000476803,;FAAP20,3_prime_UTR_variant,,ENST00000428120,NM_001282671.1;FAAP20,3_prime_UTR_variant,,ENST00000414253,NM_001282672.1;PRKCZ,3_prime_UTR_variant,,ENST00000478770,;PRKCZ,non_coding_transcript_exon_variant,,ENST00000505322,;FAAP20,downstream_gene_variant,,ENST00000497675,;FAAP20,downstream_gene_variant,,ENST00000440825,;	G	ENST00000378567	Transcript	synonymous_variant	1841/2326	1680/1779	560/592	T	acC/acG		1		1	PRKCZ	HGNC	HGNC:9412	protein_coding	YES	CCDS37.1	ENSP00000367830	Q05513		UPI0000169EB7	NM_002744.4			17/18		Pfam_domain:PF00433,PIRSF_domain:PIRSF000554,PROSITE_profiles:PS51285,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF170,SMART_domains:SM00133,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	2184687	2184687	C	G	1	0	0	0	0	0	0	0	1	12650	610	22	4		4	PRKCZ	1	2184687	Silent	SNP	C	C3L-00144_TP	476507	2184687	246771735	4	4283											
MORN1	0	.	GRCh38	chr1	2336759	2336759	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggggtggtacccaggCgggggcggccccaggaggac	8	2	21	10	2	0	0	0	0	0	0	0	3	0	3	3	10	1	1	3	10	2	1	rs750153953		C3L-00144_TP	C3L-00144_NB	C	C																c.1128G>T	p.=	p.P376P	ENST00000378531	11/14	60	35	25	51	51	0	strelka-varscan-mutect	MORN1,synonymous_variant,p.=,ENST00000378531,NM_024848.2;MORN1,non_coding_transcript_exon_variant,,ENST00000606372,;	A	ENST00000378531	Transcript	synonymous_variant	1302/1798	1128/1494	376/497	P	ccG/ccT	rs750153953	1		-1	MORN1	HGNC	HGNC:25852	protein_coding	YES	CCDS40.1	ENSP00000367792	Q5T089		UPI000007293C	NM_024848.2			11/14																			LOW	1	SNV	2			1										PASS		rs750153953	.												A	2	1	12	2336759	2336759	C	A	1	0	0	0	0	0	0	0	1	9671	755	27	1		1	MORN1	1	2336759	Silent	SNP	C	C3L-00144_TP	152072	2336759	246619663	5	4284											
PLCH2	0	.	GRCh38	chr1	2494922	2494922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacgcaatggccgcctcGtcgtgggaagcttctccagg	7	7	14	13	4	1	1	0	0	1	1	4	2	1	2	3	3	1	3	3	3	2	1	rs371640065		C3L-00144_TP	C3L-00144_NB	G	G																c.1726G>T	p.Val576Phe	p.V576F	ENST00000378486	12/22	158	121	37	168	168	0	strelka-varscan-mutect	PLCH2,missense_variant,p.Val549Phe,ENST00000449969,NM_001303012.1;PLCH2,missense_variant,p.Val576Phe,ENST00000378486,NM_014638.3,NM_001303013.1;PLCH2,missense_variant,p.Val576Phe,ENST00000419816,;PLCH2,missense_variant,p.Val435Phe,ENST00000278878,;RP3-395M20.3,upstream_gene_variant,,ENST00000442305,;RP3-395M20.2,upstream_gene_variant,,ENST00000424657,;PLCH2,non_coding_transcript_exon_variant,,ENST00000343889,;PLCH2,upstream_gene_variant,,ENST00000473964,;PLCH2,upstream_gene_variant,,ENST00000462379,;	T	ENST00000378486	Transcript	missense_variant	2000/4837	1726/4251	576/1416	V/F	Gtc/Ttc	rs371640065	1		1	PLCH2	HGNC	HGNC:29037	protein_coding	YES	CCDS59959.1	ENSP00000367747	O75038		UPI00005B72F8	NM_014638.3,NM_001303013.1	tolerated(0.25)		12/22		Superfamily_domains:SSF51695																	MODERATE	1	SNV	1			1										PASS		rs371640065	.												T	3	4	12	2494922	2494922	G	T	1	0	0	0	0	1	0	0	0	12132	1145	40	1		1	PLCH2	1	2494922	Missense_Mutation	SNP	G	C3L-00144_TP	158163	2494922	246461500	6	4285											
H6PD	0	.	GRCh38	chr1	9264518	9264518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgcccagatctatgccagGgagatctcagccctggtggc	7	7	14	13	1	2	2	1	0	2	2	3	3	2	2	3	4	2	0	3	4	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2058G>T	p.Arg686Ser	p.R686S	ENST00000602477	5/5	192	148	44	189	189	0	strelka-varscan-mutect	H6PD,missense_variant,p.Arg675Ser,ENST00000377403,NM_004285.3;H6PD,missense_variant,p.Arg686Ser,ENST00000602477,NM_001282587.1;H6PD,upstream_gene_variant,,ENST00000495451,;	T	ENST00000602477	Transcript	missense_variant	2210/5590	2058/2409	686/802	R/S	agG/agT		1		1	H6PD	HGNC	HGNC:4795	protein_coding	YES	CCDS72697.1	ENSP00000473348		R4GMU1	UPI0000D61E40	NM_001282587.1	tolerated(0.72)		5/5		Gene3D:3.40.50.1360,Pfam_domain:PF01182,TIGRFAM_domain:TIGR01198,Superfamily_domains:SSF100950																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	9264518	9264518	G	T	1	0	0	0	0	1	0	0	0	6818	1223	43	2		2	H6PD	1	9264518	Missense_Mutation	SNP	G	C3L-00144_TP	6769596	9264518	239691904	7	4286											
DISP3	0	.	GRCh38	chr1	11525277	11525277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgctccttggcaggctGtgtcgcctggggatggagag	4	10	17	10	1	0	1	0	0	0	1	2	3	1	2	3	5	2	3	3	5	0	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2578G>A	p.Val860Met	p.V860M	ENST00000294484	12/21	177	133	44	153	153	0	strelka-varscan-mutect	DISP3,missense_variant,p.Val860Met,ENST00000294484,NM_020780.1;	A	ENST00000294484	Transcript	missense_variant	2716/5215	2578/4179	860/1392	V/M	Gtg/Atg		1		1	DISP3	HGNC	HGNC:29251	protein_coding	YES	CCDS41247.1	ENSP00000294484	Q9P2K9		UPI00001C1D7A	NM_020780.1	deleterious_low_confidence(0.02)		12/21		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF125																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	11525277	11525277	G	A	1	0	0	0	0	1	0	0	0	4347	1377	48	3		3	DISP3	1	11525277	Missense_Mutation	SNP	G	C3L-00144_TP	2260759	11525277	237431145	8	4287											
DISP3	0	.	GRCh38	chr1	11536347	11536347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccgaacgcagcgccagtgGcgtacgctggaggccgtgcg	6	4	17	14	7	0	0	0	0	0	0	0	2	0	1	3	3	4	3	3	3	2	1	rs767878802		C3L-00144_TP	C3L-00144_NB	G	G																c.3840G>T	p.Trp1280Cys	p.W1280C	ENST00000294484	21/21	78	65	13	66	66	0	strelka-varscan-mutect	DISP3,missense_variant,p.Trp1280Cys,ENST00000294484,NM_020780.1;DISP3,missense_variant,p.Ala167Ser,ENST00000304391,;	T	ENST00000294484	Transcript	missense_variant	3978/5215	3840/4179	1280/1392	W/C	tgG/tgT	rs767878802	1		1	DISP3	HGNC	HGNC:29251	protein_coding	YES	CCDS41247.1	ENSP00000294484	Q9P2K9		UPI00001C1D7A	NM_020780.1	tolerated(0.09)		21/21		hmmpanther:PTHR10796:SF125,hmmpanther:PTHR10796,Gene3D:2j8sB01,Pfam_domain:PF03176,Superfamily_domains:SSF82866																	MODERATE	1	SNV	1			1										PASS		rs767878802	.												T	3	4	12	11536347	11536347	G	T	1	0	0	0	0	1	0	0	0	4347	1212	42	2		2	DISP3	1	11536347	Missense_Mutation	SNP	G	C3L-00144_TP	11070	11536347	237420075	9	4288											
C1orf158	0	.	GRCh38	chr1	12760928	12760928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggtccctccccatcgcCtgcatcctctcccacacttc	4	10	4	23	2	1	0	0	0	1	0	8	0	5	0	7	1	1	1	7	1	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.562C>A	p.Leu188Met	p.L188M	ENST00000614859	4/4	49	31	18	48	48	0	strelka-varscan-mutect	C1orf158,missense_variant,p.Leu188Met,ENST00000614859,NM_152290.3;C1orf158,missense_variant,p.Leu150Met,ENST00000376210,;	A	ENST00000614859	Transcript	missense_variant	778/3549	562/585	188/194	L/M	Ctg/Atg		1		1	C1orf158	HGNC	HGNC:28567	protein_coding	YES	CCDS147.1	ENSP00000477802	Q8N1D5		UPI000006E055	NM_152290.3	deleterious(0.01)		4/4		hmmpanther:PTHR31180,hmmpanther:PTHR31180:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	12760928	12760928	C	A	1	0	0	0	0	1	0	0	0	1969	680	24	2		2	C1orf158	1	12760928	Missense_Mutation	SNP	C	C3L-00144_TP	1224581	12760928	236195494	10	4289											
PRAMEF10	0	.	GRCh38	chr1	12893141	12893141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgctcagcccacgtgtGtgacgcagcaggtctttcag	8	10	11	12	2	3	1	2	1	1	0	3	1	3	1	1	1	4	3	1	1	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1200C>A	p.His400Gln	p.H400Q	ENST00000235347	4/4	209	173	36	280	280	0	strelka-varscan-mutect	PRAMEF10,missense_variant,p.His400Gln,ENST00000235347,NM_001039361.4;	T	ENST00000235347	Transcript	missense_variant	1280/1525	1200/1425	400/474	H/Q	caC/caA		1		-1	PRAMEF10	HGNC	HGNC:27997	protein_coding	YES	CCDS41255.1	ENSP00000235347	O60809		UPI000442CF00	NM_001039361.4	deleterious(0.02)		4/4		hmmpanther:PTHR14224:SF28,hmmpanther:PTHR14224,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	12893141	12893141	G	T	1	0	0	0	0	1	0	0	0	12555	1368	48	2		2	PRAMEF10	1	12893141	Missense_Mutation	SNP	G	C3L-00144_TP	132213	12893141	236063281	11	4290											
PDPN	0	.	GRCh38	chr1	13607226	13607226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacaggtttggaaggcggcGttgccatgccaggtgccgaa	8	8	15	10	3	0	0	0	0	0	0	0	2	0	1	3	5	4	2	3	5	3	3	rs769618524		C3L-00144_TP	C3L-00144_NB	G	G																c.349G>T	p.Val117Phe	p.V117F	ENST00000294489	2/6	157	122	35	136	136	0	strelka-varscan-mutect	PDPN,missense_variant,p.Val117Phe,ENST00000294489,;PDPN,missense_variant,p.Val117Phe,ENST00000617617,NM_006474.4;PDPN,missense_variant,p.Val117Phe,ENST00000376057,NM_198389.2;PDPN,missense_variant,p.Val41Phe,ENST00000621990,;PDPN,missense_variant,p.Val41Phe,ENST00000510906,;PDPN,missense_variant,p.Val36Phe,ENST00000509009,;PDPN,5_prime_UTR_variant,,ENST00000376061,;PDPN,5_prime_UTR_variant,,ENST00000513143,;PDPN,5_prime_UTR_variant,,ENST00000475043,NM_001006625.1;PDPN,5_prime_UTR_variant,,ENST00000487038,NM_001006624.1;PDPN,5_prime_UTR_variant,,ENST00000488631,;PDPN,downstream_gene_variant,,ENST00000506205,;	T	ENST00000294489	Transcript	missense_variant	690/3104	349/717	117/238	V/F	Gtt/Ttt	rs769618524	1		1	PDPN	HGNC	HGNC:29602	protein_coding	YES	CCDS30602.1	ENSP00000294489	Q86YL7		UPI000013E16D		tolerated(0.09)		2/6		Pfam_domain:PF05808,hmmpanther:PTHR16861																	MODERATE	1	SNV	1			1										PASS		rs769618524	.												T	3	4	12	13607226	13607226	G	T	1	0	0	0	0	1	0	0	0	11776	1145	40	1		1	PDPN	1	13607226	Missense_Mutation	SNP	G	C3L-00144_TP	714085	13607226	235349196	12	4291											
DNAJC16	0	.	GRCh38	chr1	15536650	15536650	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taattctgaacggcgggactCaattgacgaaaagtatttat	14	12	9	6	3	2	2	1	2	1	0	2	4	2	3	0	2	1	1	0	2	7	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.410C>G	p.Ser137Ter	p.S137*	ENST00000375847	4/15	252	176	76	228	228	0	strelka-varscan-mutect	DNAJC16,stop_gained,p.Ser137Ter,ENST00000375847,NM_015291.3;DNAJC16,stop_gained,p.Ser137Ter,ENST00000375849,;DNAJC16,stop_gained,p.Ser137Ter,ENST00000375838,;DNAJC16,5_prime_UTR_variant,,ENST00000616884,NM_001287811.1;DNAJC16,stop_gained,p.Ser137Ter,ENST00000475133,;	G	ENST00000375847	Transcript	stop_gained	574/6069	410/2349	137/782	S/*	tCa/tGa		1		1	DNAJC16	HGNC	HGNC:29157	protein_coding	YES	CCDS30606.1	ENSP00000365007	Q9Y2G8		UPI000000DBDB	NM_015291.3			4/15		PROSITE_profiles:PS51352,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF319																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	12	15536650	15536650	C	G	1	0	0	0	0	0	1	0	0	4449	838	29	4		4	DNAJC16	1	15536650	Nonsense_Mutation	SNP	C	C3L-00144_TP	1929424	15536650	233419772	13	4292											
PADI1	0	.	GRCh38	chr1	17205267	17205267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgaagatgcctacccatgCcgtgtgtgtggtgggagtcg	6	10	15	10	2	0	2	0	1	0	1	1	3	0	3	4	2	3	0	4	2	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.50C>A	p.Ala17Asp	p.A17D	ENST00000375471	1/16	314	252	62	216	216	0	strelka-varscan-mutect	PADI1,missense_variant,p.Ala17Asp,ENST00000375471,NM_013358.2;RP11-380J14.4,upstream_gene_variant,,ENST00000635428,;	A	ENST00000375471	Transcript	missense_variant	142/3846	50/1992	17/663	A/D	gCc/gAc		1		1	PADI1	HGNC	HGNC:18367	protein_coding	YES	CCDS178.1	ENSP00000364620	Q9ULC6		UPI000013D8A2	NM_013358.2	deleterious(0)		1/16		Pfam_domain:PF08526,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF11,Superfamily_domains:SSF49503																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	17205267	17205267	C	A	1	0	0	0	0	1	0	0	0	11455	739	26	2		2	PADI1	1	17205267	Missense_Mutation	SNP	C	C3L-00144_TP	1668617	17205267	231751155	14	4293											
PADI1	0	.	GRCh38	chr1	17244125	17244125	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggagcctctgggccTgcactgcatcttcattgatg	5	12	11	13	0	3	1	1	1	2	0	3	2	3	2	3	2	4	3	3	2	0	2	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1874T>A	p.Leu625Gln	p.L625Q	ENST00000375471	16/16	322	283	39	275	275	0	strelka-varscan-mutect	PADI1,missense_variant,p.Leu625Gln,ENST00000375471,NM_013358.2;PADI3,upstream_gene_variant,,ENST00000375460,NM_016233.2;PADI1,non_coding_transcript_exon_variant,,ENST00000460293,;	A	ENST00000375471	Transcript	missense_variant	1966/3846	1874/1992	625/663	L/Q	cTg/cAg		1		1	PADI1	HGNC	HGNC:18367	protein_coding	YES	CCDS178.1	ENSP00000364620	Q9ULC6		UPI000013D8A2	NM_013358.2	deleterious(0)		16/16		Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF11,Superfamily_domains:SSF55909																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	17244125	17244125	T	A	1	0	0	0	0	1	0	0	0	11455	1580	55	4		4	PADI1	1	17244125	Missense_Mutation	SNP	T	C3L-00144_TP	38858	17244125	231712297	15	4294											
PLA2G2E	0	.	GRCh38	chr1	19923524	19923524	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacaaagatcacttacccagGaggcaaaggaacaccagcac	17	3	8	13	0	1	1	1	0	0	1	1	3	1	3	2	3	3	2	2	3	4	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.36C>A	p.=	p.L12L	ENST00000375116	1/4	84	74	10	56	56	0	strelka-varscan-mutect	PLA2G2E,synonymous_variant,p.=,ENST00000375116,NM_014589.2;	T	ENST00000375116	Transcript	synonymous_variant	94/785	36/429	12/142	L	ctC/ctA		1		-1	PLA2G2E	HGNC	HGNC:13414	protein_coding	YES	CCDS200.1	ENSP00000364257	Q9NZK7		UPI0000131139	NM_014589.2			1/4		hmmpanther:PTHR11716,hmmpanther:PTHR11716:SF56,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs1443764586	.												T	2	4	12	19923524	19923524	G	T	1	0	0	0	0	0	0	0	1	12094	1188	41	2		2	PLA2G2E	1	19923524	Silent	SNP	G	C3L-00144_TP	2679399	19923524	229032898	16	4295											
VWA5B1	0	.	GRCh38	chr1	20343145	20343145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggaccccccagccgagtCccaggagcgagccagtccca	8	3	12	18	2	0	0	0	0	0	0	2	4	2	2	7	2	3	0	7	2	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2378C>A	p.Ser793Tyr	p.S793Y	ENST00000375079	16/22	118	87	31	107	107	0	strelka-varscan-mutect	VWA5B1,missense_variant,p.Ser793Tyr,ENST00000289815,NM_001039500.2;VWA5B1,missense_variant,p.Ser793Tyr,ENST00000375079,;VWA5B1,non_coding_transcript_exon_variant,,ENST00000525343,;VWA5B1,missense_variant,p.Ser220Tyr,ENST00000467486,;VWA5B1,3_prime_UTR_variant,,ENST00000485375,;VWA5B1,downstream_gene_variant,,ENST00000473325,;	A	ENST00000375079	Transcript	missense_variant	2574/3859	2378/3663	793/1220	S/Y	tCc/tAc		1		1	VWA5B1	HGNC	HGNC:26538	protein_coding	YES		ENSP00000364220	Q5TIE3		UPI000066D8B8		deleterious(0.04)		16/22		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF109																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	20343145	20343145	C	A	1	0	0	0	0	1	0	0	0	17797	855	30	2		2	VWA5B1	1	20343145	Missense_Mutation	SNP	C	C3L-00144_TP	419621	20343145	228613277	17	4296											
EIF4G3	0	.	GRCh38	chr1	20941896	20941896	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtggctgataatttttCgctaactccatttatttcat	8	18	5	10	2	1	1	1	1	0	0	4	1	3	1	2	1	1	2	2	1	3	7	rs35287548		C3L-00144_TP	C3L-00144_NB	C	C																c.1087G>T	p.Glu363Ter	p.E363*	ENST00000400422	11/35	163	154	9	143	143	0	strelka-varscan-mutect	EIF4G3,stop_gained,p.Glu370Ter,ENST00000602326,NM_001198802.1;EIF4G3,stop_gained,p.Glu364Ter,ENST00000264211,NM_003760.4;EIF4G3,stop_gained,p.Glu363Ter,ENST00000400422,NM_001198801.1;EIF4G3,stop_gained,p.Glu553Ter,ENST00000634879,;EIF4G3,stop_gained,p.Glu375Ter,ENST00000356916,NM_001198803.1;EIF4G3,intron_variant,,ENST00000374935,;EIF4G3,upstream_gene_variant,,ENST00000485722,;EIF4G3,upstream_gene_variant,,ENST00000374933,;	A	ENST00000400422	Transcript	stop_gained	1668/5762	1087/4866	363/1621	E/*	Gaa/Taa	rs35287548	1		-1	EIF4G3	HGNC	HGNC:3298	protein_coding	YES	CCDS72723.1	ENSP00000383274		A0A0A0MSA7	UPI0000D4C1EC	NM_001198801.1			11/35		hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23																	HIGH	1	SNV	1			1										PASS		rs35287548	.												A	4	1	12	20941896	20941896	C	A	1	0	0	0	0	0	1	0	0	4871	893	31	1		1	EIF4G3	1	20941896	Nonsense_Mutation	SNP	C	C3L-00144_TP	598751	20941896	228014526	18	4297											
HSPG2	0	.	GRCh38	chr1	21854205	21854206	+	Frame_Shift_Ins	INS	-	-	G																															tcctcacctggggtgtagctINSggggccagaatgggtgccgt																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.6426dupC	p.Ser2143GlnfsTer283	p.S2143Qfs*283	ENST00000374695	50/97	98	92	6	69	69	0	varindel-pindel	HSPG2,frameshift_variant,p.Ser2143GlnfsTer283,ENST00000374695,NM_005529.6,NM_001291860.1;HSPG2,non_coding_transcript_exon_variant,,ENST00000493940,;	G	ENST00000374695	Transcript	frameshift_variant	6506-6507/14327	6426-6427/13176	2142-2143/4391	-/X	-/C		1		-1	HSPG2	HGNC	HGNC:5273	protein_coding	YES	CCDS30625.1	ENSP00000363827	P98160		UPI0000212778	NM_005529.6,NM_001291860.1			50/97		PROSITE_profiles:PS50835,SMART_domains:SM00406																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	12	21854205	21854205	-	G	1	0	1	1	0	0	0	0	0	7326	1580	55	0		0	HSPG2	1	21854205	Frame_Shift_Ins	INS	-	C3L-00144_TP	912309	21854205	227102217	19	4298											
C1QC	0	.	GRCh38	chr1	22647321	22647321	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaaatggccccatgggaccCcctgggatgccaggggtgcc	9	5	14	13	0	0	0	0	0	0	0	0	2	0	2	6	5	2	0	6	5	2	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.276C>A	p.=	p.P92P	ENST00000374639	3/3	137	94	43	117	117	0	strelka-varscan-mutect	C1QC,synonymous_variant,p.=,ENST00000374639,NM_001114101.1;C1QC,synonymous_variant,p.=,ENST00000374640,NM_172369.3;C1QC,synonymous_variant,p.=,ENST00000374637,;	A	ENST00000374639	Transcript	synonymous_variant	394/1183	276/738	92/245	P	ccC/ccA		1		1	C1QC	HGNC	HGNC:1245	protein_coding	YES	CCDS227.1	ENSP00000363770	P02747	A0A024RAA7	UPI0000126BF3	NM_001114101.1			3/3		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF558,Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	12	22647321	22647321	C	A	1	0	0	0	0	0	0	0	1	1935	610	22	2		2	C1QC	1	22647321	Silent	SNP	C	C3L-00144_TP	793116	22647321	226309101	20	4299											
RUNX3	0	.	GRCh38	chr1	24907342	24907342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgtgctcggtgtcaccCgcatgcgcagccgttccagg	4	9	15	13	4	1	0	1	0	0	0	3	0	2	0	3	3	3	4	3	3	0	1	rs746700911		C3L-00144_TP	C3L-00144_NB	C	C																c.662G>T	p.Arg221Leu	p.R221L	ENST00000399916	5/6	282	222	60	286	285	1	strelka-varscan-mutect	RUNX3,missense_variant,p.Arg221Leu,ENST00000399916,NM_001320672.1,NM_001031680.2;RUNX3,missense_variant,p.Arg207Leu,ENST00000308873,NM_004350.2;RUNX3,missense_variant,p.Arg221Leu,ENST00000338888,;RUNX3,non_coding_transcript_exon_variant,,ENST00000496967,;	A	ENST00000399916	Transcript	missense_variant	1101/4340	662/1290	221/429	R/L	cGg/cTg	rs746700911	1		-1	RUNX3	HGNC	HGNC:10473	protein_coding	YES	CCDS30633.1	ENSP00000382800	Q13761	A0A024RAH4	UPI000002B2FF	NM_001320672.1,NM_001031680.2	deleterious(0.02)		5/6		hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF26																	MODERATE	1	SNV	2			1										PASS		rs746700911	.												A	3	1	12	24907342	24907342	C	A	1	0	0	0	0	1	0	0	0	14010	652	23	1		1	RUNX3	1	24907342	Missense_Mutation	SNP	C	C3L-00144_TP	2260021	24907342	224049080	21	4300											
RHCE	0	.	GRCh38	chr1	25389066	25389066	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagggatcaggtgacacgaGgtacccacagccacgcctcc	11	4	12	14	2	1	1	1	1	0	0	2	4	2	2	4	3	2	1	4	3	2	1	rs778131577		C3L-00144_TP	C3L-00144_NB	G	G																c.849C>T	p.=	p.T283T	ENST00000294413	6/10	445	379	66	346	346	0	strelka-varscan-mutect	RHCE,synonymous_variant,p.=,ENST00000349320,;RHCE,synonymous_variant,p.=,ENST00000294413,NM_020485.4;RHCE,synonymous_variant,p.=,ENST00000349438,NM_138618.3;RHCE,synonymous_variant,p.=,ENST00000413854,;RHCE,synonymous_variant,p.=,ENST00000340849,NM_138617.3;RHCE,intron_variant,,ENST00000346452,NM_138616.3;RHCE,intron_variant,,ENST00000527747,;RHCE,3_prime_UTR_variant,,ENST00000533771,;RHCE,non_coding_transcript_exon_variant,,ENST00000527187,;	A	ENST00000294413	Transcript	synonymous_variant	908/1591	849/1254	283/417	T	acC/acT	rs778131577	1		-1	RHCE	HGNC	HGNC:10008	protein_coding	YES	CCDS30635.1	ENSP00000294413	P18577		UPI00001D9627	NM_020485.4			6/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR11730:SF43,hmmpanther:PTHR11730,Gene3D:1.10.3430.10,Pfam_domain:PF00909,Superfamily_domains:0044218,Prints_domain:PR00342																	LOW	1	SNV	1			1										PASS		rs778131577	.												A	2	1	12	25389066	25389066	G	A	1	0	0	0	0	0	0	0	1	13497	987	35	3		3	RHCE	1	25389066	Silent	SNP	G	C3L-00144_TP	481724	25389066	223567356	22	4301											
RHCE	0	.	GRCh38	chr1	25420746	25420746	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagtgttagggcgcagaggGgcaggcagcgccggacagac	9	3	18	11	3	0	2	0	0	0	2	0	3	0	3	2	5	1	4	2	5	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.41C>G	p.Pro14Arg	p.P14R	ENST00000294413	1/10	560	494	66	497	497	0	varscan-mutect	RHCE,missense_variant,p.Pro14Arg,ENST00000294413,NM_020485.4;RHCE,missense_variant,p.Pro14Arg,ENST00000349438,NM_138618.3;RHCE,missense_variant,p.Pro14Arg,ENST00000413854,;RHCE,missense_variant,p.Pro14Arg,ENST00000340849,NM_138617.3;RHCE,missense_variant,p.Pro14Arg,ENST00000346452,NM_138616.3;RHCE,intron_variant,,ENST00000349320,;RHCE,non_coding_transcript_exon_variant,,ENST00000495048,;RHCE,missense_variant,p.Pro14Arg,ENST00000533771,;RHCE,non_coding_transcript_exon_variant,,ENST00000527187,;	C	ENST00000294413	Transcript	missense_variant	100/1591	41/1254	14/417	P/R	cCc/cGc		1		-1	RHCE	HGNC	HGNC:10008	protein_coding	YES	CCDS30635.1	ENSP00000294413	P18577		UPI00001D9627	NM_020485.4	deleterious(0)		1/10		Transmembrane_helices:TMhelix,Prints_domain:PR00342																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	25420746	25420746	G	C	1	0	0	0	0	1	0	0	0	13497	1232	43	4		4	RHCE	1	25420746	Missense_Mutation	SNP	G	C3L-00144_TP	31680	25420746	223535676	23	4302											
ARID1A	0	.	GRCh38	chr1	26774695	26774695	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccatacaggcatcagctGaggttgctcagcaaggcacc	10	6	11	14	0	2	1	2	1	0	0	2	1	2	1	3	3	4	6	3	3	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.4468G>T	p.Glu1490Ter	p.E1490*	ENST00000324856	18/20	332	254	78	288	287	1	strelka-varscan-mutect	ARID1A,stop_gained,p.Glu1490Ter,ENST00000324856,NM_006015.4;ARID1A,stop_gained,p.Glu1108Ter,ENST00000636219,;ARID1A,stop_gained,p.Glu1106Ter,ENST00000430799,;ARID1A,stop_gained,p.Glu1107Ter,ENST00000374152,;ARID1A,stop_gained,p.Glu1106Ter,ENST00000615191,;ARID1A,intron_variant,,ENST00000457599,NM_139135.2;ARID1A,non_coding_transcript_exon_variant,,ENST00000636794,;ARID1A,non_coding_transcript_exon_variant,,ENST00000636072,;ARID1A,intron_variant,,ENST00000466382,;ARID1A,downstream_gene_variant,,ENST00000636110,;ARID1A,upstream_gene_variant,,ENST00000637788,;ARID1A,upstream_gene_variant,,ENST00000532781,;ARID1A,downstream_gene_variant,,ENST00000430291,;	T	ENST00000324856	Transcript	stop_gained	4839/8577	4468/6858	1490/2285	E/*	Gag/Tag		1		1	ARID1A	HGNC	HGNC:11110	protein_coding	YES	CCDS285.1	ENSP00000320485	O14497		UPI0000167B91	NM_006015.4			18/20		hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	26774695	26774695	G	T	1	0	0	0	0	0	1	0	0	1049	1291	45	2		2	ARID1A	1	26774695	Nonsense_Mutation	SNP	G	C3L-00144_TP	1353949	26774695	222181727	24	4303											
HCRTR1	0	.	GRCh38	chr1	31623528	31623528	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtgctggacagatcccCggcaccacctcagcactggt	8	8	11	14	1	1	1	1	0	0	1	2	2	2	2	4	3	2	3	4	3	0	0	rs371204021		C3L-00144_TP	C3L-00144_NB	C	C																c.744C>G	p.=	p.P248P	ENST00000403528	6/8	143	108	35	89	89	0	strelka-varscan-mutect	HCRTR1,synonymous_variant,p.=,ENST00000403528,NM_001525.2;HCRTR1,synonymous_variant,p.=,ENST00000373706,;HCRTR1,synonymous_variant,p.=,ENST00000373705,;HCRTR1,non_coding_transcript_exon_variant,,ENST00000468521,;HCRTR1,non_coding_transcript_exon_variant,,ENST00000485464,;	G	ENST00000403528	Transcript	synonymous_variant	1131/2003	744/1278	248/425	P	ccC/ccG	rs371204021	1		1	HCRTR1	HGNC	HGNC:4848	protein_coding	YES	CCDS344.1	ENSP00000384387	O43613		UPI0000038135	NM_001525.2			6/8		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01064,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF30,SMART_domains:SM01381																	LOW	1	SNV	5			1										PASS		rs371204021	.												G	2	3	12	31623528	31623528	C	G	1	0	0	0	0	0	0	0	1	6888	666	23	4		4	HCRTR1	1	31623528	Silent	SNP	C	C3L-00144_TP	4848833	31623528	217332894	25	4304											
ADGRB2	0	.	GRCh38	chr1	31740450	31740450	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtccccactatagtaggtgCgccgggccagtagctcctgc	6	8	13	14	2	0	0	0	0	0	0	2	0	2	0	5	3	3	3	5	3	4	4			C3L-00144_TP	C3L-00144_NB	C	C																c.1886G>T	p.Arg629Leu	p.R629L	ENST00000373655	12/33	169	154	15	141	141	0	strelka-varscan-mutect	ADGRB2,missense_variant,p.Arg629Leu,ENST00000373658,;ADGRB2,missense_variant,p.Arg629Leu,ENST00000373655,NM_001294335.1;ADGRB2,missense_variant,p.Arg562Leu,ENST00000398542,;ADGRB2,missense_variant,p.Arg629Leu,ENST00000527361,NM_001294336.1;ADGRB2,missense_variant,p.Arg577Leu,ENST00000398556,;ADGRB2,missense_variant,p.Arg562Leu,ENST00000398547,;ADGRB2,missense_variant,p.Arg617Leu,ENST00000398538,;ADGRB2,missense_variant,p.Arg567Leu,ENST00000420125,;ADGRB2,downstream_gene_variant,,ENST00000533175,;ADGRB2,intron_variant,,ENST00000530134,;ADGRB2,downstream_gene_variant,,ENST00000468430,;ADGRB2,upstream_gene_variant,,ENST00000465256,;ADGRB2,upstream_gene_variant,,ENST00000466109,;	A	ENST00000373655	Transcript	missense_variant	2228/5400	1886/4755	629/1584	R/L	cGc/cTc	COSM908199	1		-1	ADGRB2	HGNC	HGNC:944	protein_coding	YES	CCDS72747.1	ENSP00000362759	O60241		UPI000046FEC7	NM_001294335.1	tolerated(0.07)		12/33		hmmpanther:PTHR12011:SF41,hmmpanther:PTHR12011,Pfam_domain:PF16489											1						MODERATE	1	SNV	1		1	1										PASS		rs1198638899	.												A	3	1	12	31740450	31740450	C	A	1	0	0	0	0	1	0	0	0	356	768	27	1		1	ADGRB2	1	31740450	Missense_Mutation	SNP	C	C3L-00144_TP	116922	31740450	217215972	26	4305											
SPOCD1	0	.	GRCh38	chr1	31814027	31814027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcttctgtctgtgcccCggtcttgggcacagggcact	4	11	13	13	1	3	1	0	1	3	0	3	1	3	1	2	3	2	3	2	3	0	2			C3L-00144_TP	C3L-00144_NB	C	C																c.1307G>T	p.Arg436Leu	p.R436L	ENST00000360482	2/16	89	71	18	73	73	0	strelka-mutect	SPOCD1,missense_variant,p.Arg436Leu,ENST00000360482,NM_144569.5;SPOCD1,missense_variant,p.Arg436Leu,ENST00000533231,NM_001281987.1;SPOCD1,intron_variant,,ENST00000257100,NM_001281988.1;SPOCD1,intron_variant,,ENST00000529396,;SPOCD1,intron_variant,,ENST00000528791,;SPOCD1,intron_variant,,ENST00000525930,;SPOCD1,non_coding_transcript_exon_variant,,ENST00000485944,;	A	ENST00000360482	Transcript	missense_variant	1437/3960	1307/3651	436/1216	R/L	cGg/cTg	COSM5516154	1		-1	SPOCD1	HGNC	HGNC:26338	protein_coding	YES	CCDS347.1	ENSP00000353670	Q6ZMY3		UPI000035E7DD	NM_144569.5	deleterious(0.05)		2/16		hmmpanther:PTHR11477:SF18,hmmpanther:PTHR11477											1						MODERATE	1	SNV	2		1	1										PASS		rs1025569220	.												A	3	1	12	31814027	31814027	C	A	1	0	0	0	0	1	0	0	0	15431	652	23	1		1	SPOCD1	1	31814027	Missense_Mutation	SNP	C	C3L-00144_TP	73577	31814027	217142395	27	4306											
CSMD2	0	.	GRCh38	chr1	33646761	33646761	+	Frame_Shift_Del	DEL	C	C	-																															ggagctgggagccatagaagCttcctatgagagggctgaga																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.4661delG	p.Ser1554ThrfsTer28	p.S1554Tfs*28	ENST00000373381	29/71	203	161	42	237	237	0	sindel-varindel	CSMD2,frameshift_variant,p.Ser1554ThrfsTer28,ENST00000373381,NM_001281956.1;CSMD2,frameshift_variant,p.Ser1514ThrfsTer28,ENST00000619121,;CSMD2,frameshift_variant,p.Ser1514ThrfsTer28,ENST00000373388,NM_052896.4;CSMD2,frameshift_variant,p.Ser427ThrfsTer28,ENST00000373380,;CSMD2,frameshift_variant,p.Ser1514ThrfsTer28,ENST00000241312,;	-	ENST00000373381	Transcript	frameshift_variant	4838/13698	4661/10896	1554/3631	S/X	aGc/ac		1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1			29/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	12	33646761	33646761	C	-	1	0	1	0	1	0	0	0	0	3746	797	28	0		0	CSMD2	1	33646761	Frame_Shift_Del	DEL	C	C3L-00144_TP	1832734	33646761	215309661	28	4307	98	2									
CSMD2	0	.	GRCh38	chr1	33646762	33646762	+	Missense_Mutation	SNP	T	T	A																															gagctgggagccatagaagcTtcctatgagagggctgagag																								novel		C3L-00144_TP	C3L-00144_NB	T	T																c.4660A>T	p.Ser1554Cys	p.S1554C	ENST00000373381	29/71	225	178	47	236	236	0	strelka-mutect	CSMD2,missense_variant,p.Ser1554Cys,ENST00000373381,NM_001281956.1;CSMD2,missense_variant,p.Ser1514Cys,ENST00000619121,;CSMD2,missense_variant,p.Ser1514Cys,ENST00000373388,NM_052896.4;CSMD2,missense_variant,p.Ser427Cys,ENST00000373380,;CSMD2,missense_variant,p.Ser1514Cys,ENST00000241312,;	A	ENST00000373381	Transcript	missense_variant	4837/13698	4660/10896	1554/3631	S/C	Agc/Tgc		1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1	deleterious(0)		29/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	33646762	33646762	T	A	1	0	0	0	0	1	0	0	0	3746	1609	56	4		4	CSMD2	1	33646762	Missense_Mutation	SNP	T	C3L-00144_TP	1	33646762	215309660	29	4308	98	2									
CSMD2	0	.	GRCh38	chr1	33726615	33726615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcacagctcaaggcatcCttgtagaagccaggccagcc	11	5	11	14	0	1	1	1	0	0	1	2	1	2	1	4	3	3	4	4	3	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2439G>T	p.Lys813Asn	p.K813N	ENST00000373381	16/71	200	169	31	174	174	0	strelka-varscan-mutect	CSMD2,missense_variant,p.Lys813Asn,ENST00000373381,NM_001281956.1;CSMD2,missense_variant,p.Lys773Asn,ENST00000619121,;CSMD2,missense_variant,p.Lys773Asn,ENST00000373388,NM_052896.4;CSMD2,missense_variant,p.Lys773Asn,ENST00000241312,;	A	ENST00000373381	Transcript	missense_variant	2616/13698	2439/10896	813/3631	K/N	aaG/aaT		1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1	deleterious(0.02)		16/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	33726615	33726615	C	A	1	0	0	0	0	1	0	0	0	3746	680	24	2		2	CSMD2	1	33726615	Missense_Mutation	SNP	C	C3L-00144_TP	79853	33726615	215229807	30	4309											
GRIK3	0	.	GRCh38	chr1	36802030	36802030	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggatctcatcggccacggTgctgcagaaggaacgctgca	10	6	13	12	4	1	1	1	0	1	1	3	3	1	3	1	4	4	4	1	4	2	0	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2581A>T	p.Thr861Ser	p.T861S	ENST00000373091	16/16	110	75	35	60	60	0	strelka-varscan-mutect	GRIK3,missense_variant,p.Thr861Ser,ENST00000373091,NM_000831.3;GRIK3,downstream_gene_variant,,ENST00000373093,;	A	ENST00000373091	Transcript	missense_variant	2598/9101	2581/2760	861/919	T/S	Acc/Tcc		1		-1	GRIK3	HGNC	HGNC:4581	protein_coding	YES	CCDS416.1	ENSP00000362183	Q13003		UPI000013E311	NM_000831.3	tolerated(0.3)		16/16		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF174																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	36802030	36802030	T	A	1	0	0	0	0	1	0	0	0	6657	1696	59	4		4	GRIK3	1	36802030	Missense_Mutation	SNP	T	C3L-00144_TP	3075415	36802030	212154392	31	4310											
RSPO1	0	.	GRCh38	chr1	37613812	37613812	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctgcgtgtccgctcctCggagcccctccggaaaccac	6	6	9	20	4	0	0	0	0	0	0	4	2	3	2	7	2	3	1	7	2	1	0	rs767855607		C3L-00144_TP	C3L-00144_NB	C	C																c.517G>T	p.Glu173Ter	p.E173*	ENST00000356545	6/7	317	251	66	285	285	0	strelka-varscan-mutect	RSPO1,stop_gained,p.Glu173Ter,ENST00000356545,NM_001242908.1;RSPO1,stop_gained,p.Glu146Ter,ENST00000615459,NM_001242909.1;RSPO1,stop_gained,p.Glu173Ter,ENST00000401068,NM_001038633.3;RSPO1,intron_variant,,ENST00000612451,NM_001242910.1;	A	ENST00000356545	Transcript	stop_gained	1230/2621	517/792	173/263	E/*	Gag/Tag	rs767855607	1		-1	RSPO1	HGNC	HGNC:21679	protein_coding	YES	CCDS41304.1	ENSP00000348944	Q2MKA7		UPI0000674A16	NM_001242908.1			6/7		PROSITE_profiles:PS50092,hmmpanther:PTHR23275,hmmpanther:PTHR23275:SF44,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	HIGH	1	SNV	1			1										PASS		rs767855607	.												A	4	1	12	37613812	37613812	C	A	1	0	0	0	0	0	1	0	0	13967	893	31	1		1	RSPO1	1	37613812	Nonsense_Mutation	SNP	C	C3L-00144_TP	811782	37613812	211342610	32	4311											
MACF1	0	.	GRCh38	chr1	39434544	39434544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatgaagagctcagcccctGgattgaggaaactcgggcac	11	8	12	10	1	1	3	1	2	0	1	2	5	1	5	2	3	3	2	2	3	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.11510G>T	p.Trp3837Leu	p.W3837L	ENST00000361689	63/93	332	261	71	275	274	1	strelka-varscan-mutect	MACF1,missense_variant,p.Trp5899Leu,ENST00000564288,;MACF1,missense_variant,p.Trp5936Leu,ENST00000567887,;MACF1,missense_variant,p.Trp5795Leu,ENST00000372915,;MACF1,missense_variant,p.Trp4339Leu,ENST00000289893,;MACF1,missense_variant,p.Trp3837Leu,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Trp2841Leu,ENST00000372925,;MACF1,non_coding_transcript_exon_variant,,ENST00000473843,;MACF1,upstream_gene_variant,,ENST00000469490,;	T	ENST00000361689	Transcript	missense_variant	11562/17538	11510/16293	3837/5430	W/L	tGg/tTg		1		1	MACF1	HGNC	HGNC:13664	protein_coding	YES	CCDS435.1	ENSP00000354573	Q9UPN3		UPI00001B3DC6	NM_012090.5	deleterious(0)		63/93		Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	39434544	39434544	G	T	1	0	0	0	0	1	0	0	0	9060	1357	47	2		2	MACF1	1	39434544	Missense_Mutation	SNP	G	C3L-00144_TP	1820732	39434544	209521878	33	4312											
MACF1	0	.	GRCh38	chr1	39447864	39447864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcgatctattgaaagagggcGatcactagatgatgccagga	13	8	13	7	2	2	4	1	2	1	2	2	7	2	5	1	2	1	0	1	2	3	3	rs758478864		C3L-00144_TP	C3L-00144_NB	G	G																c.13757G>C	p.Arg4586Pro	p.R4586P	ENST00000361689	77/93	375	334	41	326	326	0	strelka-varscan-mutect	MACF1,missense_variant,p.Arg6645Pro,ENST00000564288,;MACF1,missense_variant,p.Arg6682Pro,ENST00000567887,;MACF1,missense_variant,p.Arg6544Pro,ENST00000372915,;MACF1,missense_variant,p.Arg5088Pro,ENST00000289893,;MACF1,missense_variant,p.Arg4586Pro,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Arg3590Pro,ENST00000372925,;MACF1,upstream_gene_variant,,ENST00000487656,;	C	ENST00000361689	Transcript	missense_variant	13809/17538	13757/16293	4586/5430	R/P	cGa/cCa	rs758478864,COSM5627020,COSM5627021,COSM5627022	1		1	MACF1	HGNC	HGNC:13664	protein_coding	YES	CCDS435.1	ENSP00000354573	Q9UPN3		UPI00001B3DC6	NM_012090.5	deleterious(0)		77/93		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37,SMART_domains:SM00150,Superfamily_domains:SSF46966											0,1,1,1						MODERATE	1	SNV	5		0,1,1,1	1										PASS		rs758478864	.												C	3	2	12	39447864	39447864	G	C	1	0	0	0	0	1	0	0	0	9060	1058	37	4		4	MACF1	1	39447864	Missense_Mutation	SNP	G	C3L-00144_TP	13320	39447864	209508558	34	4313											
OXCT2	0	.	GRCh38	chr1	39770552	39770552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgacgtctgcagctttgCacatgggcacgttgaaattg	8	11	12	10	3	1	2	0	2	1	0	1	2	1	2	1	1	3	5	1	1	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.704G>T	p.Cys235Phe	p.C235F	ENST00000327582	1/1	212	174	38	197	197	0	strelka-varscan-mutect	OXCT2,missense_variant,p.Cys235Phe,ENST00000327582,NM_022120.1;BMP8B,intron_variant,,ENST00000372827,NM_001720.3;	A	ENST00000327582	Transcript	missense_variant	797/1826	704/1554	235/517	C/F	tGc/tTc		1		-1	OXCT2	HGNC	HGNC:18606	protein_coding	YES	CCDS445.1	ENSP00000361914	Q9BYC2		UPI000006DF0A	NM_022120.1	deleterious(0.01)		1/1		hmmpanther:PTHR13707:SF28,hmmpanther:PTHR13707,PIRSF_domain:PIRSF000858,Gene3D:3.40.1080.10,Pfam_domain:PF01144,SMART_domains:SM00882,Superfamily_domains:SSF100950																	MODERATE		SNV				1										PASS		.	.												A	3	1	12	39770552	39770552	C	A	1	0	0	0	0	1	0	0	0	11402	710	25	2		2	OXCT2	1	39770552	Missense_Mutation	SNP	C	C3L-00144_TP	322688	39770552	209185870	35	4314											
CLDN19	0	.	GRCh38	chr1	42735113	42735113	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagggggcccttggcggaGgcgggcaatttaacaactgg	8	6	16	11	2	0	0	0	0	0	0	0	1	0	1	2	7	2	1	2	7	3	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.648C>A	p.=	p.A216A	ENST00000296387	5/5	259	229	30	224	224	0	strelka-varscan-mutect	CLDN19,synonymous_variant,p.=,ENST00000296387,NM_148960.2;CLDN19,3_prime_UTR_variant,,ENST00000539749,NM_001185117.1;CLDN19,3_prime_UTR_variant,,ENST00000372539,NM_001123395.1;	T	ENST00000296387	Transcript	synonymous_variant	839/2859	648/675	216/224	A	gcC/gcA		1		-1	CLDN19	HGNC	HGNC:2040	protein_coding	YES	CCDS471.1	ENSP00000296387	Q8N6F1		UPI000013E32D	NM_148960.2			5/5		hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF27																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	12	42735113	42735113	G	T	1	0	0	0	0	0	0	0	1	3244	987	35	2		2	CLDN19	1	42735113	Silent	SNP	G	C3L-00144_TP	2964561	42735113	206221309	36	4315											
SZT2	0	.	GRCh38	chr1	43441588	43441588	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcagcgctggatggagttTatggttcagattggtgagac	8	12	15	6	1	2	2	2	1	0	2	2	5	2	4	0	4	1	4	0	4	1	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.7425T>C	p.=	p.F2475F	ENST00000562955	53/71	79	70	9	79	79	0	strelka-varscan-mutect	SZT2,synonymous_variant,p.=,ENST00000562955,NM_015284.3;SZT2,synonymous_variant,p.=,ENST00000634258,;SZT2,downstream_gene_variant,,ENST00000471177,;SZT2,upstream_gene_variant,,ENST00000460536,;SZT2,downstream_gene_variant,,ENST00000470897,;	C	ENST00000562955	Transcript	synonymous_variant	7425/12281	7425/10128	2475/3375	F	ttT/ttC		1		1	SZT2	HGNC	HGNC:29040	protein_coding	YES	CCDS30694.2	ENSP00000457168	Q5T011		UPI0001E24F46	NM_015284.3			53/71		hmmpanther:PTHR14918																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	12	43441588	43441588	T	C	1	0	0	0	0	0	0	0	1	15883	1751	61	5		5	SZT2	1	43441588	Silent	SNP	T	C3L-00144_TP	706475	43441588	205514834	37	4316											
IPO13	0	.	GRCh38	chr1	43956590	43956590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaagtagagcactggcaGagtttcctggcactcgtcaa	11	8	11	11	1	1	2	1	0	0	2	3	3	2	2	2	2	1	5	2	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.993G>T	p.Gln331His	p.Q331H	ENST00000372343	4/20	176	163	13	150	150	0	strelka-varscan-mutect	IPO13,missense_variant,p.Gln331His,ENST00000372343,NM_014652.3;IPO13,non_coding_transcript_exon_variant,,ENST00000492152,;IPO13,non_coding_transcript_exon_variant,,ENST00000489773,;IPO13,upstream_gene_variant,,ENST00000480902,;	T	ENST00000372343	Transcript	missense_variant	1655/3894	993/2892	331/963	Q/H	caG/caT		1		1	IPO13	HGNC	HGNC:16853	protein_coding	YES	CCDS503.1	ENSP00000361418	O94829		UPI0000073F11	NM_014652.3	deleterious(0.02)		4/20		hmmpanther:PTHR12363:SF29,hmmpanther:PTHR12363,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	43956590	43956590	G	T	1	0	0	0	0	1	0	0	0	7697	933	33	2		2	IPO13	1	43956590	Missense_Mutation	SNP	G	C3L-00144_TP	515002	43956590	204999832	38	4317											
BEST4	0	.	GRCh38	chr1	44786171	44786171	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacgcaggggacccagtacTtgttgaagtcggatttcagg	10	9	14	8	2	1	2	1	1	0	1	2	4	1	4	1	4	1	3	1	4	2	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.539A>T	p.Lys180Met	p.K180M	ENST00000372207	4/9	114	108	6	100	100	0	strelka-varscan-mutect	BEST4,missense_variant,p.Lys180Met,ENST00000372207,NM_153274.2;	A	ENST00000372207	Transcript	missense_variant	539/2047	539/1422	180/473	K/M	aAg/aTg		1		-1	BEST4	HGNC	HGNC:17106	protein_coding	YES	CCDS514.1	ENSP00000361281	Q8NFU0		UPI000006D85E	NM_153274.2	tolerated(0.07)		4/9		Pfam_domain:PF01062,hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	44786171	44786171	T	A	1	0	0	0	0	1	0	0	0	1555	1609	56	4		4	BEST4	1	44786171	Missense_Mutation	SNP	T	C3L-00144_TP	829581	44786171	204170251	39	4318											
PIK3R3	0	.	GRCh38	chr1	46066077	46066077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatgttctagtatattcttCatacagcctatcatactctt	10	17	5	9	0	5	0	2	0	3	0	5	1	5	1	1	1	3	2	1	1	6	10	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.598G>A	p.Glu200Lys	p.E200K	ENST00000262741	5/10	260	226	34	307	307	0	strelka-varscan-mutect	PIK3R3,missense_variant,p.Glu200Lys,ENST00000262741,NM_003629.3;PIK3R3,missense_variant,p.Glu200Lys,ENST00000420542,NM_001114172.1;PIK3R3,missense_variant,p.Glu200Lys,ENST00000372006,NM_001303428.1;PIK3R3,missense_variant,p.Glu200Lys,ENST00000423209,NM_001303429.1;PIK3R3,missense_variant,p.Glu246Lys,ENST00000540385,NM_001303427.1;PIK3R3,missense_variant,p.Glu200Lys,ENST00000425892,;PIK3R3,non_coding_transcript_exon_variant,,ENST00000493202,;	T	ENST00000262741	Transcript	missense_variant	1288/5609	598/1386	200/461	E/K	Gaa/Aaa		1		-1	PIK3R3	HGNC	HGNC:8981	protein_coding	YES	CCDS529.1	ENSP00000262741	Q92569		UPI000013D318	NM_003629.3	tolerated(0.11)		5/10		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF16454,hmmpanther:PTHR10155																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	46066077	46066077	C	T	1	0	0	0	0	1	0	0	0	12015	835	29	3		3	PIK3R3	1	46066077	Missense_Mutation	SNP	C	C3L-00144_TP	1279906	46066077	202890345	40	4319											
DMBX1	0	.	GRCh38	chr1	46510511	46510511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgttatggttcccagcacCgcaaacaacgtcgcagccgc	9	6	9	17	5	0	0	0	0	0	0	2	0	1	0	4	1	4	5	4	1	3	2	rs762830943		C3L-00144_TP	C3L-00144_NB	C	C																c.190C>G	p.Arg64Gly	p.R64G	ENST00000360032	2/4	128	117	11	108	108	0	strelka-mutect	DMBX1,missense_variant,p.Arg69Gly,ENST00000371956,NM_147192.2;DMBX1,missense_variant,p.Arg64Gly,ENST00000360032,NM_172225.1;	G	ENST00000360032	Transcript	missense_variant	204/2880	190/1134	64/377	R/G	Cgc/Ggc	rs762830943	1		1	DMBX1	HGNC	HGNC:19026	protein_coding	YES	CCDS536.1	ENSP00000353132	Q8NFW5		UPI0000070B63	NM_172225.1	deleterious(0.02)		2/4		PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF383,Gene3D:1.10.10.60,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		rs762830943	.												G	3	3	12	46510511	46510511	C	G	1	0	0	0	0	1	0	0	0	4385	652	23	4		4	DMBX1	1	46510511	Missense_Mutation	SNP	C	C3L-00144_TP	444434	46510511	202445911	41	4320											
MKNK1	0	.	GRCh38	chr1	46571458	46571458	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgaggtgggaggatcaCtggagcccagggaggttggg	8	6	21	6	0	1	1	1	1	0	0	1	5	1	5	1	8	1	2	1	8	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.575G>C	p.Ser192Thr	p.S192T	ENST00000371946	8/14	41	31	10	27	27	0	strelka-varscan-mutect	MKNK1,missense_variant,p.Ser192Thr,ENST00000371946,NM_003684.5;MKNK1,intron_variant,,ENST00000371945,NM_001135553.2;MKNK1,intron_variant,,ENST00000341183,;MKNK1,intron_variant,,ENST00000428112,NM_198973.3;MKNK1,intron_variant,,ENST00000496619,;MKNK1-AS1,downstream_gene_variant,,ENST00000602433,;MKNK1,intron_variant,,ENST00000342571,;MKNK1,intron_variant,,ENST00000532783,;MKNK1,upstream_gene_variant,,ENST00000470237,;MKNK1,downstream_gene_variant,,ENST00000528237,;MKNK1,upstream_gene_variant,,ENST00000460098,;MKNK1,intron_variant,,ENST00000528077,;MKNK1,intron_variant,,ENST00000531355,;MKNK1,intron_variant,,ENST00000532897,;MKNK1,downstream_gene_variant,,ENST00000484301,;MKNK1,downstream_gene_variant,,ENST00000526513,;MKNK1,downstream_gene_variant,,ENST00000480531,;MKNK1,downstream_gene_variant,,ENST00000486716,;	G	ENST00000371946	Transcript	missense_variant	739/2719	575/1398	192/465	S/T	aGt/aCt		1		-1	MKNK1	HGNC	HGNC:7110	protein_coding	YES	CCDS538.1	ENSP00000361014	Q9BUB5		UPI0000073749	NM_003684.5	tolerated_low_confidence(0.72)		8/14		PROSITE_profiles:PS50011,SMART_domains:SM00220																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	46571458	46571458	C	G	1	0	0	0	0	1	0	0	0	9571	565	20	4		4	MKNK1	1	46571458	Missense_Mutation	SNP	C	C3L-00144_TP	60947	46571458	202384964	42	4321											
ZFYVE9	0	.	GRCh38	chr1	52238202	52238202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccctccatgtctgcgattaCaagtttaacggttgattcag	9	13	8	11	2	2	1	1	1	1	0	3	2	3	1	3	1	3	2	3	1	3	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.785C>A	p.Thr262Lys	p.T262K	ENST00000287727	4/19	137	117	20	190	187	3	strelka-varscan-mutect	ZFYVE9,missense_variant,p.Thr262Lys,ENST00000287727,NM_004799.3;ZFYVE9,missense_variant,p.Thr262Lys,ENST00000371591,;ZFYVE9,missense_variant,p.Thr262Lys,ENST00000357206,NM_007324.3;ZFYVE9,non_coding_transcript_exon_variant,,ENST00000361625,;	A	ENST00000287727	Transcript	missense_variant	1237/5194	785/4278	262/1425	T/K	aCa/aAa		1		1	ZFYVE9	HGNC	HGNC:6775	protein_coding	YES	CCDS563.1	ENSP00000287727	O95405		UPI0000001620	NM_004799.3	deleterious_low_confidence(0.04)		4/19		hmmpanther:PTHR22835:SF265,hmmpanther:PTHR22835																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	52238202	52238202	C	A	1	0	0	0	0	1	0	0	0	18248	478	17	2		2	ZFYVE9	1	52238202	Missense_Mutation	SNP	C	C3L-00144_TP	5666744	52238202	196718220	43	4322											
FAM159A	0	.	GRCh38	chr1	52656839	52656839	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgaacacaggcatggcGgcagaagtgccaaaagtgag	13	5	16	7	1	0	3	0	2	0	1	0	3	0	3	1	4	2	2	1	4	4	0	rs762346974		C3L-00144_TP	C3L-00144_NB	G	G																c.372G>T	p.=	p.A124A	ENST00000517870	3/3	126	103	23	121	121	0	strelka-varscan-mutect	FAM159A,synonymous_variant,p.=,ENST00000517870,NM_001042693.1;FAM159A,intron_variant,,ENST00000401050,;FAM159A,intron_variant,,ENST00000440303,;FAM159A,intron_variant,,ENST00000424164,;	T	ENST00000517870	Transcript	synonymous_variant	522/748	372/573	124/190	A	gcG/gcT	rs762346974,COSM910699	1		1	FAM159A	HGNC	HGNC:28757	protein_coding	YES	CCDS41336.1	ENSP00000429726	Q6UWV7		UPI0000204364	NM_001042693.1			3/3		hmmpanther:PTHR31395,hmmpanther:PTHR31395:SF3											0,1						LOW	1	SNV	1		0,1	1										PASS		rs762346974	.												T	2	4	12	52656839	52656839	G	T	1	0	0	0	0	0	0	0	1	5315	1103	39	1		1	FAM159A	1	52656839	Silent	SNP	G	C3L-00144_TP	418637	52656839	196299583	44	4323											
NDC1	0	.	GRCh38	chr1	53828092	53828092	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccattcccattgcagcaTgaataaatgagtgcatgagt	13	11	8	9	0	1	3	1	3	0	0	2	3	2	3	2	0	3	3	2	0	3	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.362A>T	p.His121Leu	p.H121L	ENST00000371429	4/18	205	177	28	177	177	0	strelka-varscan-mutect	NDC1,missense_variant,p.His121Leu,ENST00000371429,NM_001168551.1,NM_018087.4;NDC1,non_coding_transcript_exon_variant,,ENST00000480952,;	A	ENST00000371429	Transcript	missense_variant	961/5134	362/2025	121/674	H/L	cAt/cTt		1		-1	NDC1	HGNC	HGNC:25525	protein_coding	YES	CCDS583.1	ENSP00000360483	Q9BTX1		UPI000006D8F7	NM_001168551.1,NM_018087.4	deleterious(0.01)		4/18		hmmpanther:PTHR13269:SF6,hmmpanther:PTHR13269,Pfam_domain:PF09531																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	53828092	53828092	T	A	1	0	0	0	0	1	0	0	0	10262	1464	51	4		4	NDC1	1	53828092	Missense_Mutation	SNP	T	C3L-00144_TP	1171253	53828092	195128330	45	4324											
DIO1	0	.	GRCh38	chr1	53906154	53906154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagaaccttcaggatcgcCtgcaggcagcccatctactg	10	7	9	15	1	2	1	1	0	1	1	3	2	2	2	4	2	4	2	4	2	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.541C>A	p.Leu181Met	p.L181M	ENST00000361921	3/4	329	291	38	322	321	1	strelka-mutect	DIO1,missense_variant,p.Leu181Met,ENST00000361921,NM_000792.5;DIO1,missense_variant,p.Leu180Met,ENST00000613679,;DIO1,missense_variant,p.Leu138Met,ENST00000529589,;DIO1,missense_variant,p.Leu52Met,ENST00000524406,;DIO1,missense_variant,p.Leu133Met,ENST00000388876,NM_001039715.1;DIO1,missense_variant,p.Leu117Met,ENST00000525202,NM_213593.3;DIO1,3_prime_UTR_variant,,ENST00000610607,;DIO1,intron_variant,,ENST00000322679,NM_001039716.1;DIO1,intron_variant,,ENST00000617230,;DIO1,intron_variant,,ENST00000532493,;DIO1,non_coding_transcript_exon_variant,,ENST00000534069,;DIO1,3_prime_UTR_variant,,ENST00000527060,;DIO1,3_prime_UTR_variant,,ENST00000530084,;DIO1,3_prime_UTR_variant,,ENST00000529329,;DIO1,intron_variant,,ENST00000528946,;DIO1,intron_variant,,ENST00000525044,;DIO1,downstream_gene_variant,,ENST00000526329,;	A	ENST00000361921	Transcript	missense_variant	565/1861	541/750	181/249	L/M	Ctg/Atg		1		1	DIO1	HGNC	HGNC:2883	protein_coding	YES	CCDS41339.1	ENSP00000354643	P49895		UPI0000161B1A	NM_000792.5	tolerated(0.12)		3/4		hmmpanther:PTHR11781:SF7,hmmpanther:PTHR11781,Gene3D:3.40.30.10,PIRSF_domain:PIRSF001330,Pfam_domain:PF00837,PIRSF_domain:PIRSF500144,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		rs1489032485	.												A	3	1	12	53906154	53906154	C	A	1	0	0	0	0	1	0	0	0	4329	680	24	2		2	DIO1	1	53906154	Missense_Mutation	SNP	C	C3L-00144_TP	78062	53906154	195050268	46	4325											
ACOT11	0	.	GRCh38	chr1	54630819	54630819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaatccaggtcaaagggtcGcaggagcgacggttggaatg	11	6	16	8	4	1	0	1	0	0	0	3	4	2	2	1	5	1	2	1	5	3	1	rs377475734		C3L-00144_TP	C3L-00144_NB	G	G																c.1715G>T	p.Arg572Leu	p.R572L	ENST00000371316	16/17	68	55	13	44	44	0	strelka-varscan-mutect	ACOT11,missense_variant,p.Arg572Leu,ENST00000371316,NM_015547.3;RP11-240D10.4,upstream_gene_variant,,ENST00000416119,;	T	ENST00000371316	Transcript	missense_variant	1797/6369	1715/1824	572/607	R/L	cGc/cTc	rs377475734,COSM191870	1		1	ACOT11	HGNC	HGNC:18156	protein_coding	YES	CCDS592.1	ENSP00000360366	Q8WXI4		UPI0000136D55	NM_015547.3			16/17		Pfam_domain:PF01852,SMART_domains:SM00234											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs377475734	.												T	3	4	12	54630819	54630819	G	T	1	0	0	0	0	1	0	0	0	191	1087	38	1		1	ACOT11	1	54630819	Missense_Mutation	SNP	G	C3L-00144_TP	724665	54630819	194325603	47	4326											
TTC22	0	.	GRCh38	chr1	54800670	54800670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgcacgctcctctgggCtggcgcagccgacgtcgaag	5	5	14	17	7	1	0	0	0	1	0	3	2	2	0	3	2	1	4	3	2	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.494G>T	p.Ser165Ile	p.S165I	ENST00000371276	1/7	122	105	17	120	119	1	strelka-varscan-mutect	TTC22,missense_variant,p.Ser165Ile,ENST00000371276,NM_001114108.1;TTC22,missense_variant,p.Ser165Ile,ENST00000371274,NM_017904.3;	A	ENST00000371276	Transcript	missense_variant	598/3345	494/1710	165/569	S/I	aGc/aTc		1		-1	TTC22	HGNC	HGNC:26067	protein_coding	YES	CCDS44152.1	ENSP00000360323	Q5TAA0		UPI0000470B73	NM_001114108.1	deleterious(0.03)		1/7		hmmpanther:PTHR16253,hmmpanther:PTHR16253:SF4																	MODERATE	1	SNV	5			1										PASS		rs962846743	.												A	3	1	12	54800670	54800670	C	A	1	0	0	0	0	1	0	0	0	17197	797	28	2		2	TTC22	1	54800670	Missense_Mutation	SNP	C	C3L-00144_TP	169851	54800670	194155752	48	4327											
BSND	0	.	GRCh38	chr1	54999272	54999272	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgttcctcatgagccatgAtcggccccaggtctacggca	8	9	10	14	3	2	2	1	2	1	0	4	2	3	2	4	3	3	2	4	3	2	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.86A>G	p.Asp29Gly	p.D29G	ENST00000371265	1/4	211	185	26	184	184	0	strelka-varscan-mutect	BSND,missense_variant,p.Asp29Gly,ENST00000371265,NM_057176.2;	G	ENST00000371265	Transcript	missense_variant	340/3472	86/963	29/320	D/G	gAt/gGt		1		1	BSND	HGNC	HGNC:16512	protein_coding	YES	CCDS602.1	ENSP00000360312	Q8WZ55	Q5VU50	UPI000006DC8D	NM_057176.2	deleterious(0)		1/4		PD968187,Pfam_domain:PF15462,hmmpanther:PTHR28399,hmmpanther:PTHR28399:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	54999272	54999272	A	G	1	0	0	0	0	1	0	0	0	1705	333	12	5		5	BSND	1	54999272	Missense_Mutation	SNP	A	C3L-00144_TP	198602	54999272	193957150	49	4328											
PCSK9	0	.	GRCh38	chr1	55056009	55056009	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaggcctggagtttattcgGaaaagccagctggtccagcc	9	8	12	12	1	0	0	0	0	0	0	2	2	1	2	5	4	3	2	5	4	3	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.816G>A	p.=	p.R272R	ENST00000302118	6/12	118	99	19	108	108	0	strelka-varscan-mutect	PCSK9,synonymous_variant,p.=,ENST00000302118,NM_174936.3;PCSK9,non_coding_transcript_exon_variant,,ENST00000490692,;	A	ENST00000302118	Transcript	synonymous_variant	1106/3637	816/2079	272/692	R	cgG/cgA		1		1	PCSK9	HGNC	HGNC:20001	protein_coding	YES	CCDS603.1	ENSP00000303208	Q8NBP7		UPI00001615E1	NM_174936.3			6/12		hmmpanther:PTHR10795:SF443,hmmpanther:PTHR10795,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743																	LOW	1	SNV	1			1										PASS		rs746504242	.												A	2	1	12	55056009	55056009	G	A	1	0	0	0	0	0	0	0	1	11694	1161	41	3		3	PCSK9	1	55056009	Silent	SNP	G	C3L-00144_TP	56737	55056009	193900413	50	4329											
USP24	0	.	GRCh38	chr1	55214939	55214939	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggggctggggccaccgcCgctgtccatgggctcgtagc	3	6	16	16	4	0	0	0	0	0	0	2	0	1	0	5	5	1	4	5	5	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.175G>C	p.Gly59Arg	p.G59R	ENST00000294383	1/68	161	150	11	143	143	0	strelka-varscan-mutect	USP24,missense_variant,p.Gly59Arg,ENST00000294383,NM_015306.2;RP11-101C11.1,upstream_gene_variant,,ENST00000451250,;	G	ENST00000294383	Transcript	missense_variant	175/10549	175/7863	59/2620	G/R	Ggc/Cgc		1		-1	USP24	HGNC	HGNC:12623	protein_coding	YES	CCDS44154.2	ENSP00000294383	Q9UPU5		UPI000059CFDE	NM_015306.2	tolerated_low_confidence(0.53)		1/68		Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		rs1298927281	.												G	3	3	12	55214939	55214939	C	G	1	0	0	0	0	1	0	0	0	17596	652	23	4		4	USP24	1	55214939	Missense_Mutation	SNP	C	C3L-00144_TP	158930	55214939	193741483	51	4330											
C8B	0	.	GRCh38	chr1	56952076	56952076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtagctttccacattgtagGgcttcctaaacctcgtgttc	7	15	8	11	1	0	0	0	0	0	0	4	0	2	0	3	1	2	5	3	1	4	7	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.638C>A	p.Pro213His	p.P213H	ENST00000371237	5/12	481	415	66	436	436	0	strelka-varscan-mutect	C8B,missense_variant,p.Pro161His,ENST00000543257,NM_001278543.1;C8B,missense_variant,p.Pro151His,ENST00000535057,NM_001278544.1;C8B,missense_variant,p.Pro213His,ENST00000371237,NM_000066.3;C8B,downstream_gene_variant,,ENST00000468990,;	T	ENST00000371237	Transcript	missense_variant	705/2037	638/1776	213/591	P/H	cCc/cAc		1		-1	C8B	HGNC	HGNC:1353	protein_coding	YES	CCDS30730.1	ENSP00000360281	P07358		UPI000013C9B2	NM_000066.3	deleterious(0)		5/12		PROSITE_profiles:PS51412,hmmpanther:PTHR19325:SF385,hmmpanther:PTHR19325																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	56952076	56952076	G	T	1	0	0	0	0	1	0	0	0	2151	1232	43	2		2	C8B	1	56952076	Missense_Mutation	SNP	G	C3L-00144_TP	1737137	56952076	192004346	52	4331											
C1orf87	0	.	GRCh38	chr1	60055268	60055268	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggttgttttctgatttcTggttgttctctgggtgcttt	1	23	11	6	0	4	1	0	1	4	0	5	1	4	1	0	3	1	5	0	3	0	7	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.278A>T	p.Gln93Leu	p.Q93L	ENST00000371201	3/12	357	321	36	354	354	0	strelka-varscan-mutect	C1orf87,missense_variant,p.Gln93Leu,ENST00000371201,NM_152377.2;C1orf87,missense_variant,p.Gln93Leu,ENST00000450089,;	A	ENST00000371201	Transcript	missense_variant	386/2028	278/1641	93/546	Q/L	cAg/cTg		1		-1	C1orf87	HGNC	HGNC:28547	protein_coding	YES	CCDS614.1	ENSP00000360244	Q8N0U7		UPI000006E066	NM_152377.2	tolerated(0.1)		3/12		hmmpanther:PTHR34830,hmmpanther:PTHR34830:SF1																	MODERATE	1	SNV	1			1										PASS		rs1327400882	.												A	3	1	12	60055268	60055268	T	A	1	0	0	0	0	1	0	0	0	1999	1580	55	4		4	C1orf87	1	60055268	Missense_Mutation	SNP	T	C3L-00144_TP	3103192	60055268	188901154	53	4332											
PATJ	0	.	GRCh38	chr1	61864456	61864456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatccctcaccatccatGgagttgtatcccttgtcgca	9	11	7	14	1	1	1	1	0	0	1	5	2	4	2	4	1	0	3	4	1	2	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2658G>T	p.Met886Ile	p.M886I	ENST00000371158	20/43	216	178	38	173	172	1	strelka-varscan-mutect	PATJ,missense_variant,p.Met886Ile,ENST00000371158,NM_176877.2;PATJ,missense_variant,p.Met886Ile,ENST00000613764,;PATJ,missense_variant,p.Met886Ile,ENST00000316485,;PATJ,non_coding_transcript_exon_variant,,ENST00000493967,;PATJ,missense_variant,p.Met345Ile,ENST00000484937,;PATJ,3_prime_UTR_variant,,ENST00000635023,;PATJ,non_coding_transcript_exon_variant,,ENST00000484562,;PATJ,non_coding_transcript_exon_variant,,ENST00000459752,;PATJ,non_coding_transcript_exon_variant,,ENST00000635214,;PATJ,non_coding_transcript_exon_variant,,ENST00000488913,;	T	ENST00000371158	Transcript	missense_variant	2772/8505	2658/5406	886/1801	M/I	atG/atT		1		1	PATJ	HGNC	HGNC:28881	protein_coding	YES	CCDS617.2	ENSP00000360200	Q8NI35		UPI0000204487	NM_176877.2	tolerated(0.06)		20/43		hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF11																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	61864456	61864456	G	T	1	0	0	0	0	1	0	0	0	11558	1348	47	2		2	PATJ	1	61864456	Missense_Mutation	SNP	G	C3L-00144_TP	1809188	61864456	187091966	54	4333											
AK4	0	.	GRCh38	chr1	65190749	65190749	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagtatatagagaaaagtcTtttggttccagaccatgtga	13	12	10	6	0	1	3	0	1	1	2	2	4	2	3	2	1	0	3	2	1	5	6	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.185T>A	p.Leu62His	p.L62H	ENST00000395334	3/6	189	157	32	168	168	0	strelka-varscan-mutect	AK4,missense_variant,p.Leu62His,ENST00000395334,NM_001005353.2;AK4,missense_variant,p.Leu62His,ENST00000545314,NM_203464.2;AK4,missense_variant,p.Leu62His,ENST00000327299,NM_013410.3;AK4,missense_variant,p.Leu10His,ENST00000546702,;AK4,non_coding_transcript_exon_variant,,ENST00000470888,;AK4,non_coding_transcript_exon_variant,,ENST00000474968,;AK4,non_coding_transcript_exon_variant,,ENST00000479060,;AK4,non_coding_transcript_exon_variant,,ENST00000497030,;	A	ENST00000395334	Transcript	missense_variant	543/6998	185/672	62/223	L/H	cTt/cAt		1		1	AK4	HGNC	HGNC:363	protein_coding	YES	CCDS629.1	ENSP00000378743	P27144		UPI000011E13C	NM_001005353.2	tolerated(0.12)		3/6		HAMAP:MF_03169,HAMAP:MF_03170,HAMAP:MF_00235,hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF58,TIGRFAM_domain:TIGR01351,Gene3D:3.40.50.300,Pfam_domain:PF00406,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	65190749	65190749	T	A	1	0	0	0	0	1	0	0	0	521	1609	56	4		4	AK4	1	65190749	Missense_Mutation	SNP	T	C3L-00144_TP	3326293	65190749	183765673	55	4334											
DNAJC6	0	.	GRCh38	chr1	65392459	65392459	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggagaagtcattctgtgaGgaggaccacgctgccctagt	9	9	13	10	2	2	2	1	1	1	1	3	5	2	4	2	3	1	1	2	3	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1497G>C	p.Glu499Asp	p.E499D	ENST00000371069	12/19	31	27	4	35	35	0	strelka-varscan	DNAJC6,missense_variant,p.Glu429Asp,ENST00000263441,NM_001256865.1;DNAJC6,missense_variant,p.Glu442Asp,ENST00000395325,NM_014787.3;DNAJC6,missense_variant,p.Glu499Asp,ENST00000371069,NM_001256864.1;DNAJC6,missense_variant,p.Glu473Asp,ENST00000494710,;DNAJC6,downstream_gene_variant,,ENST00000498720,;	C	ENST00000371069	Transcript	missense_variant	1698/5365	1497/2913	499/970	E/D	gaG/gaC		1		1	DNAJC6	HGNC	HGNC:15469	protein_coding	YES	CCDS58004.1	ENSP00000360108	O75061		UPI000022AE8A	NM_001256864.1	tolerated(0.37)		12/19		hmmpanther:PTHR23172:SF4,hmmpanther:PTHR23172																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	65392459	65392459	G	C	1	0	0	0	0	1	0	0	0	4466	991	35	4		4	DNAJC6	1	65392459	Missense_Mutation	SNP	G	C3L-00144_TP	201710	65392459	183563963	56	4335											
LEPR	0	.	GRCh38	chr1	65619955	65619955	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccccattgagaagtaccAgttcagtctttacccaatat	12	13	5	11	0	2	1	1	1	1	1	3	2	3	1	4	0	2	2	4	0	6	7	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2423A>T	p.Gln808Leu	p.Q808L	ENST00000349533	17/20	190	180	10	220	220	0	strelka-varscan-mutect	LEPR,missense_variant,p.Gln808Leu,ENST00000349533,NM_002303.5;LEPR,missense_variant,p.Gln808Leu,ENST00000371060,NM_001003679.3;LEPR,missense_variant,p.Gln808Leu,ENST00000616738,NM_001198689.1;LEPR,missense_variant,p.Gln808Leu,ENST00000371059,NM_001003680.3,NM_001198687.1;LEPR,missense_variant,p.Gln808Leu,ENST00000344610,NM_001198688.1;LEPR,missense_variant,p.Gln808Leu,ENST00000371058,;LEPR,intron_variant,,ENST00000406510,;LEPR,non_coding_transcript_exon_variant,,ENST00000471762,;	T	ENST00000349533	Transcript	missense_variant	2608/8227	2423/3498	808/1165	Q/L	cAg/cTg		1		1	LEPR	HGNC	HGNC:6554	protein_coding	YES	CCDS631.1	ENSP00000330393	P48357		UPI000014C37B	NM_002303.5	tolerated(0.05)		17/20		PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF109,hmmpanther:PTHR23036,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	65619955	65619955	A	T	1	0	0	0	0	1	0	0	0	8636	188	7	4		4	LEPR	1	65619955	Missense_Mutation	SNP	A	C3L-00144_TP	227496	65619955	183336467	57	4336											
DEPDC1	0	.	GRCh38	chr1	68482713	68482713	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcctggattgcttatctgTagtctctcagtagaatctga	10	15	8	8	0	4	2	1	1	3	1	6	3	5	3	1	1	1	3	1	1	5	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1095A>T	p.=	p.L365L	ENST00000456315	8/12	103	82	21	103	103	0	strelka-varscan-mutect	DEPDC1,synonymous_variant,p.=,ENST00000456315,NM_001114120.2;DEPDC1,intron_variant,,ENST00000370966,NM_017779.5;DEPDC1,downstream_gene_variant,,ENST00000525124,;RP4-694A7.2,intron_variant,,ENST00000425820,;DEPDC1,synonymous_variant,p.=,ENST00000489862,;DEPDC1,upstream_gene_variant,,ENST00000488146,;	A	ENST00000456315	Transcript	synonymous_variant	1210/5331	1095/2436	365/811	L	ctA/ctT		1		-1	DEPDC1	HGNC	HGNC:22949	protein_coding	YES	CCDS44159.1	ENSP00000412292	Q5TB30		UPI0000204557	NM_001114120.2			8/12																			LOW	1	SNV	1			1										PASS		rs1434059058	.												A	2	1	12	68482713	68482713	T	A	1	0	0	0	0	0	0	0	1	4245	1625	57	4		4	DEPDC1	1	68482713	Silent	SNP	T	C3L-00144_TP	2862758	68482713	180473709	58	4337											
LRRC7	0	.	GRCh38	chr1	70038434	70038434	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacacacagacacacaccAgaaacagaagtgcctccttc	15	6	5	15	0	1	3	0	0	1	3	3	3	2	3	3	0	3	0	3	0	3	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2496A>G	p.=	p.P832P	ENST00000035383	19/25	203	186	17	224	224	0	strelka-varscan-mutect	LRRC7,synonymous_variant,p.=,ENST00000310961,;LRRC7,synonymous_variant,p.=,ENST00000035383,NM_020794.2;LRRC7,synonymous_variant,p.=,ENST00000415775,;	G	ENST00000035383	Transcript	synonymous_variant	2526/5000	2496/4614	832/1537	P	ccA/ccG		1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2			19/25																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	70038434	70038434	A	G	1	0	0	0	0	0	0	0	1	8916	175	7	5		5	LRRC7	1	70038434	Silent	SNP	A	C3L-00144_TP	1555721	70038434	178917988	59	4338											
LRRC7	0	.	GRCh38	chr1	70038464	70038464	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcctccttccaatccttgGcagaattggaccagaacccc	9	9	8	15	0	0	2	0	0	0	2	3	3	3	3	7	2	2	1	7	2	3	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2526G>A	p.Trp842Ter	p.W842*	ENST00000035383	19/25	180	164	16	172	171	1	strelka-varscan-mutect	LRRC7,stop_gained,p.Trp847Ter,ENST00000310961,;LRRC7,stop_gained,p.Trp842Ter,ENST00000035383,NM_020794.2;LRRC7,stop_gained,p.Trp126Ter,ENST00000415775,;	A	ENST00000035383	Transcript	stop_gained	2556/5000	2526/4614	842/1537	W/*	tgG/tgA		1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2			19/25																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	70038464	70038464	G	A	1	0	0	0	0	0	1	0	0	8916	1212	42	3		3	LRRC7	1	70038464	Nonsense_Mutation	SNP	G	C3L-00144_TP	30	70038464	178917958	60	4339											
LRRC7	0	.	GRCh38	chr1	70039354	70039354	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcctcatgagctgccccCaactgataggtacggcagac	10	7	11	13	1	1	4	1	3	0	1	1	4	1	4	3	2	5	3	3	2	3	2			C3L-00144_TP	C3L-00144_NB	C	C																c.3416C>A	p.Pro1139Gln	p.P1139Q	ENST00000035383	19/25	286	263	23	299	297	2	strelka-varscan-mutect	LRRC7,missense_variant,p.Pro1144Gln,ENST00000310961,;LRRC7,missense_variant,p.Pro1139Gln,ENST00000035383,NM_020794.2;LRRC7,missense_variant,p.Pro423Gln,ENST00000415775,;	A	ENST00000035383	Transcript	missense_variant	3446/5000	3416/4614	1139/1537	P/Q	cCa/cAa	COSM1687888	1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2	tolerated(0.23)		19/25													1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	70039354	70039354	C	A	1	0	0	0	0	1	0	0	0	8916	594	21	2		2	LRRC7	1	70039354	Missense_Mutation	SNP	C	C3L-00144_TP	890	70039354	178917068	61	4340											
ERICH3	0	.	GRCh38	chr1	74572337	74572337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcttcgttctcagcatCagatcccatttcatttgggg	7	14	10	10	1	3	1	3	0	1	1	6	1	4	1	1	3	2	3	1	3	0	4	rs775619326		C3L-00144_TP	C3L-00144_NB	C	C																c.3373G>T	p.Asp1125Tyr	p.D1125Y	ENST00000326665	14/15	151	128	23	182	182	0	strelka-varscan-mutect	ERICH3,missense_variant,p.Asp1125Tyr,ENST00000326665,NM_001002912.4;ERICH3,non_coding_transcript_exon_variant,,ENST00000433746,;ERICH3,downstream_gene_variant,,ENST00000614534,;	A	ENST00000326665	Transcript	missense_variant	3592/7159	3373/4593	1125/1530	D/Y	Gat/Tat	rs775619326	1		-1	ERICH3	HGNC	HGNC:25346	protein_coding	YES	CCDS30755.1	ENSP00000322609	Q5RHP9		UPI0000237200	NM_001002912.4	deleterious(0.01)		14/15		hmmpanther:PTHR23034																	MODERATE	1	SNV	5			1										PASS		rs775619326	.												A	3	1	12	74572337	74572337	C	A	1	0	0	0	0	1	0	0	0	5083	826	29	2		2	ERICH3	1	74572337	Missense_Mutation	SNP	C	C3L-00144_TP	4532983	74572337	174384085	62	4341											
ERICH3	0	.	GRCh38	chr1	74572411	74572411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctgtttccccttcttccGctttaagtttttgctcttct	2	22	4	13	1	4	0	0	0	4	0	7	0	6	0	3	0	1	4	3	0	1	8	rs564254097		C3L-00144_TP	C3L-00144_NB	G	G																c.3299C>A	p.Ala1100Glu	p.A1100E	ENST00000326665	14/15	261	224	37	287	287	0	strelka-varscan-mutect	ERICH3,missense_variant,p.Ala1100Glu,ENST00000326665,NM_001002912.4;ERICH3,non_coding_transcript_exon_variant,,ENST00000433746,;ERICH3,downstream_gene_variant,,ENST00000614534,;	T	ENST00000326665	Transcript	missense_variant	3518/7159	3299/4593	1100/1530	A/E	gCg/gAg	rs564254097,COSM536095	1		-1	ERICH3	HGNC	HGNC:25346	protein_coding	YES	CCDS30755.1	ENSP00000322609	Q5RHP9		UPI0000237200	NM_001002912.4	tolerated(0.55)		14/15		Low_complexity_(Seg):seg,hmmpanther:PTHR23034											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs564254097	.												T	3	4	12	74572411	74572411	G	T	1	0	0	0	0	1	0	0	0	5083	1087	38	1		1	ERICH3	1	74572411	Missense_Mutation	SNP	G	C3L-00144_TP	74	74572411	174384011	63	4342											
PKN2	0	.	GRCh38	chr1	88805633	88805633	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctactacagtgccagtGgttgatgtacgcatccctca	8	11	10	12	1	1	1	1	1	0	0	2	1	2	1	3	1	5	3	3	1	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1638G>T	p.=	p.V546V	ENST00000370521	11/22	233	214	19	206	206	0	strelka-varscan-mutect	PKN2,synonymous_variant,p.=,ENST00000370521,NM_006256.2;PKN2,synonymous_variant,p.=,ENST00000370513,;PKN2,synonymous_variant,p.=,ENST00000316005,;PKN2,downstream_gene_variant,,ENST00000436111,;	T	ENST00000370521	Transcript	synonymous_variant	1997/6121	1638/2955	546/984	V	gtG/gtT		1		1	PKN2	HGNC	HGNC:9406	protein_coding	YES	CCDS714.1	ENSP00000359552	Q16513		UPI000004D291	NM_006256.2			11/22		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	88805633	88805633	G	T	1	0	0	0	0	0	0	0	1	12076	1335	47	2		2	PKN2	1	88805633	Silent	SNP	G	C3L-00144_TP	14233222	88805633	160150789	64	4343											
GBP7	0	.	GRCh38	chr1	89150539	89150539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgcctgatccactccCtgggcttgttagaattttgg	9	13	10	9	0	0	3	0	1	0	2	2	3	2	3	3	2	1	2	3	2	3	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.662G>A	p.Arg221Lys	p.R221K	ENST00000294671	6/11	208	181	27	210	210	0	strelka-mutect	GBP7,missense_variant,p.Arg221Lys,ENST00000294671,NM_207398.2;GBP2,upstream_gene_variant,,ENST00000464839,;	T	ENST00000294671	Transcript	missense_variant	801/2454	662/1917	221/638	R/K	aGg/aAg		1		-1	GBP7	HGNC	HGNC:29606	protein_coding	YES	CCDS720.1	ENSP00000294671	Q8N8V2		UPI000013E1A3	NM_207398.2	deleterious(0.03)		6/11		PROSITE_profiles:PS51715,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF17,Gene3D:3.40.50.300,Pfam_domain:PF02263,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	89150539	89150539	C	T	1	0	0	0	0	1	0	0	0	6149	681	24	3		3	GBP7	1	89150539	Missense_Mutation	SNP	C	C3L-00144_TP	344906	89150539	159805883	65	4344											
GBP6	0	.	GRCh38	chr1	89381894	89381894	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgctggacatgcatgcgGcctgtgagagggaagccatt	9	8	15	9	1	0	1	0	1	0	1	0	4	0	3	2	3	5	3	2	3	1	1	rs781019542		C3L-00144_TP	C3L-00144_NB	G	G																c.1072G>C	p.Ala358Pro	p.A358P	ENST00000370456	7/11	208	178	30	230	230	0	strelka-varscan-mutect	GBP6,missense_variant,p.Ala358Pro,ENST00000370456,NM_198460.2;	C	ENST00000370456	Transcript	missense_variant	1165/2987	1072/1902	358/633	A/P	Gcc/Ccc	rs781019542	1		1	GBP6	HGNC	HGNC:25395	protein_coding	YES	CCDS723.1	ENSP00000359485	Q6ZN66		UPI00001D7DF5	NM_198460.2	deleterious(0.04)		7/11		hmmpanther:PTHR10751:SF48,hmmpanther:PTHR10751,Pfam_domain:PF02841,Gene3D:1f5nA01,Superfamily_domains:0037397																	MODERATE	1	SNV	1			1										PASS		rs781019542	.												C	3	2	12	89381894	89381894	G	C	1	0	0	0	0	1	0	0	0	6148	1203	42	4		4	GBP6	1	89381894	Missense_Mutation	SNP	G	C3L-00144_TP	231355	89381894	159574528	66	4345											
GLMN	0	.	GRCh38	chr1	92246590	92246590	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatttcaatgagttcttcCactcgagctagaacactttc	10	16	5	10	1	2	2	1	1	1	1	5	3	3	2	1	0	2	2	1	0	4	7	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1725G>A	p.=	p.V575V	ENST00000370360	19/19	206	174	32	189	189	0	strelka-varscan-mutect	GLMN,synonymous_variant,p.=,ENST00000370360,NM_053274.2;GLMN,downstream_gene_variant,,ENST00000495852,;C1orf146,downstream_gene_variant,,ENST00000370373,;C1orf146,downstream_gene_variant,,ENST00000370375,NM_001012425.1;GLMN,3_prime_UTR_variant,,ENST00000495106,;GLMN,non_coding_transcript_exon_variant,,ENST00000471465,;	T	ENST00000370360	Transcript	synonymous_variant	1807/1995	1725/1785	575/594	V	gtG/gtA		1		-1	GLMN	HGNC	HGNC:14373	protein_coding	YES	CCDS738.1	ENSP00000359385	Q92990		UPI0000040A53	NM_053274.2			19/19		hmmpanther:PTHR15430,hmmpanther:PTHR15430:SF1																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	92246590	92246590	C	T	1	0	0	0	0	0	0	0	1	6326	581	21	3		3	GLMN	1	92246590	Silent	SNP	C	C3L-00144_TP	2864696	92246590	156709832	67	4346											
ABCA4	0	.	GRCh38	chr1	94001028	94001028	+	Frame_Shift_Del	DEL	C	C	-																															gatgtgaggaccacagccctCccttctctgatgatgctcac																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.6360delG	p.Arg2121GlyfsTer24	p.R2121Gfs*24	ENST00000370225	46/50	319	269	50	360	360	0	sindel-varindel-pindel	ABCA4,frameshift_variant,p.Arg2121GlyfsTer24,ENST00000370225,NM_000350.2;ABCA4,frameshift_variant,p.Arg913GlyfsTer24,ENST00000536513,;ABCA4,downstream_gene_variant,,ENST00000465352,;ABCA4,downstream_gene_variant,,ENST00000484388,;	-	ENST00000370225	Transcript	frameshift_variant	6447/7309	6360/6822	2120/2273	G/X	ggG/gg		1		-1	ABCA4	HGNC	HGNC:34	protein_coding	YES	CCDS747.1	ENSP00000359245	P78363		UPI000012511C	NM_000350.2			46/50		PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR01257,SMART_domains:SM00382,Superfamily_domains:SSF52540																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	12	94001028	94001028	C	-	1	0	1	0	1	0	0	0	0	38	842	30	0		0	ABCA4	1	94001028	Frame_Shift_Del	DEL	C	C3L-00144_TP	1754438	94001028	154955394	68	4347											
SNX7	0	.	GRCh38	chr1	98698704	98698704	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaagtctttttttttttttAgaatattttgatgaaatgaa	12	23	5	1	0	1	4	0	3	1	1	1	4	1	4	0	0	0	0	0	0	6	11	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.839-2A>T		p.X280_splice	ENST00000306121		63	58	5	67	67	0	varscan-mutect	SNX7,splice_acceptor_variant,,ENST00000306121,NM_015976.4;SNX7,splice_acceptor_variant,,ENST00000529992,NM_152238.3;SNX7,splice_acceptor_variant,,ENST00000528824,;	T	ENST00000306121	Transcript	splice_acceptor_variant	-/1734	839/1356	280/451				1		1	SNX7	HGNC	HGNC:14971	protein_coding	YES	CCDS755.2	ENSP00000304429	Q9UNH6		UPI0000205396	NM_015976.4				5/8																		HIGH	1	SNV	1			1										PASS		rs1169712072	.												T	5	4	12	98698704	98698704	A	T	1	0	0	0	0	0	0	1	0	15228	434	15	4		4	SNX7	1	98698704	Splice_Site	SNP	A	C3L-00144_TP	4697676	98698704	150257718	69	4348											
PLPPR4	0	.	GRCh38	chr1	99306382	99306382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaagcagctctgctcgggCcaagtggttaaaagctgctg	11	8	12	10	1	1	0	0	0	1	0	2	0	1	0	1	2	5	6	1	2	5	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1664C>A	p.Ala555Asp	p.A555D	ENST00000370185	7/7	210	186	24	195	195	0	strelka-varscan-mutect	PLPPR4,missense_variant,p.Ala555Asp,ENST00000370185,NM_014839.4;PLPPR4,missense_variant,p.Ala497Asp,ENST00000457765,NM_001166252.1;PLPPR4,missense_variant,p.Ala397Asp,ENST00000370184,;	A	ENST00000370185	Transcript	missense_variant	2161/5369	1664/2292	555/763	A/D	gCc/gAc		1		1	PLPPR4	HGNC	HGNC:23496	protein_coding	YES	CCDS757.1	ENSP00000359204	Q7Z2D5		UPI0000161229	NM_014839.4	deleterious(0.02)		7/7																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	99306382	99306382	C	A	1	0	0	0	0	1	0	0	0	12212	739	26	2		2	PLPPR4	1	99306382	Missense_Mutation	SNP	C	C3L-00144_TP	607678	99306382	149650040	70	4349											
PLPPR4	0	.	GRCh38	chr1	99306888	99306888	+	Missense_Mutation	SNP	C	C	A																															cgctgtccatttcttcttccCgcgactccaccctgcggaga																										C3L-00144_TP	C3L-00144_NB	C	C																c.2170C>A	p.Arg724Ser	p.R724S	ENST00000370185	7/7	260	244	16	269	268	1	strelka-mutect	PLPPR4,missense_variant,p.Arg724Ser,ENST00000370185,NM_014839.4;PLPPR4,missense_variant,p.Arg666Ser,ENST00000457765,NM_001166252.1;PLPPR4,missense_variant,p.Arg566Ser,ENST00000370184,;	A	ENST00000370185	Transcript	missense_variant	2667/5369	2170/2292	724/763	R/S	Cgc/Agc	COSM1667731,COSM5533947,COSM5533948	1		1	PLPPR4	HGNC	HGNC:23496	protein_coding	YES	CCDS757.1	ENSP00000359204	Q7Z2D5		UPI0000161229	NM_014839.4	deleterious(0)		7/7													1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs1181907106	.												A	3	1	12	99306888	99306888	C	A	1	0	0	0	0	1	0	0	0	12212	652	23	1		1	PLPPR4	1	99306888	Missense_Mutation	SNP	C	C3L-00144_TP	506	99306888	149649534	71	4350	99	2									
PLPPR4	0	.	GRCh38	chr1	99306893	99306893	+	Missense_Mutation	SNP	C	C	A																															tccatttcttcttcccgcgaCtccaccctgcggagaaaggg																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2175C>A	p.Asp725Glu	p.D725E	ENST00000370185	7/7	256	240	16	253	253	0	strelka-mutect	PLPPR4,missense_variant,p.Asp725Glu,ENST00000370185,NM_014839.4;PLPPR4,missense_variant,p.Asp667Glu,ENST00000457765,NM_001166252.1;PLPPR4,missense_variant,p.Asp567Glu,ENST00000370184,;	A	ENST00000370185	Transcript	missense_variant	2672/5369	2175/2292	725/763	D/E	gaC/gaA		1		1	PLPPR4	HGNC	HGNC:23496	protein_coding	YES	CCDS757.1	ENSP00000359204	Q7Z2D5		UPI0000161229	NM_014839.4	tolerated(1)		7/7																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	99306893	99306893	C	A	1	0	0	0	0	1	0	0	0	12212	564	20	2		2	PLPPR4	1	99306893	Missense_Mutation	SNP	C	C3L-00144_TP	5	99306893	149649529	72	4351	99	2									
AC096949.1	0	.	GRCh38	chr1	99913625	99913625	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacccttcagatttaaatGaaaagcatccaaatctggtt	16	11	6	8	0	2	3	1	1	1	2	3	3	3	3	2	1	1	2	2	1	6	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.4048G>T	p.Glu1350Ter	p.E1350*	ENST00000294724	30/34	295	262	33	283	283	0	strelka-varscan-mutect	AGL,stop_gained,p.Glu1350Ter,ENST00000294724,NM_000028.2;AGL,stop_gained,p.Glu1350Ter,ENST00000361915,NM_000642.2;AGL,stop_gained,p.Glu1350Ter,ENST00000370163,NM_000643.2;AGL,stop_gained,p.Glu1350Ter,ENST00000370165,NM_000644.2;AGL,stop_gained,p.Glu1334Ter,ENST00000370161,NM_000646.2;AC096949.1,stop_gained,p.Glu1333Ter,ENST00000361522,NM_000645.2;AGL,3_prime_UTR_variant,,ENST00000361302,;AGL,non_coding_transcript_exon_variant,,ENST00000637337,;	T	ENST00000294724	Transcript	stop_gained	4526/7446	4048/4599	1350/1532	E/*	Gaa/Taa		1		1	AGL	HGNC	HGNC:321	protein_coding	YES	CCDS759.1	ENSP00000294724	P35573	A0A0S2A4E4	UPI00001694CB	NM_000028.2			30/34		hmmpanther:PTHR10569,Pfam_domain:PF06202,TIGRFAM_domain:TIGR01531,Superfamily_domains:SSF48208																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	99913625	99913625	G	T	1	0	0	0	0	0	1	0	0	135	1291	45	2		2	AC096949.1	1	99913625	Nonsense_Mutation	SNP	G	C3L-00144_TP	606732	99913625	149042797	73	4352											
VCAM1	0	.	GRCh38	chr1	100732511	100732511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttgagccagggctttcCtgctccgaaaatcctgtgga	8	11	11	11	1	0	1	0	1	0	0	3	3	3	2	4	2	3	3	4	2	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1619C>A	p.Pro540His	p.P540H	ENST00000294728	7/9	79	64	15	57	57	0	strelka-varscan-mutect	VCAM1,missense_variant,p.Pro540His,ENST00000294728,NM_001078.3;VCAM1,missense_variant,p.Pro448His,ENST00000347652,NM_080682.2;VCAM1,missense_variant,p.Pro478His,ENST00000370119,NM_001199834.1;VCAM1,missense_variant,p.Pro341His,ENST00000370115,;VCAM1,upstream_gene_variant,,ENST00000603679,;	A	ENST00000294728	Transcript	missense_variant	1720/3083	1619/2220	540/739	P/H	cCt/cAt		1		1	VCAM1	HGNC	HGNC:12663	protein_coding	YES	CCDS773.1	ENSP00000294728	P19320		UPI0000000E06	NM_001078.3	deleterious(0)		7/9		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF729,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	100732511	100732511	C	A	1	0	0	0	0	1	0	0	0	17682	681	24	2		2	VCAM1	1	100732511	Missense_Mutation	SNP	C	C3L-00144_TP	818886	100732511	148223911	74	4353											
CLCC1	0	.	GRCh38	chr1	108943980	108943980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtcttctccattgagaaaCttctgtatttctaacaaagt	12	15	5	9	0	4	1	0	1	4	1	5	2	4	1	1	0	2	1	1	0	4	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.417G>C	p.Lys139Asn	p.K139N	ENST00000356970	5/12	247	209	38	220	220	0	strelka-varscan-mutect	CLCC1,missense_variant,p.Lys139Asn,ENST00000356970,NM_001048210.2;CLCC1,missense_variant,p.Lys139Asn,ENST00000369976,;CLCC1,intron_variant,,ENST00000369969,NM_001278202.1;CLCC1,intron_variant,,ENST00000369968,NM_001278203.1;CLCC1,intron_variant,,ENST00000369970,NM_015127.4;CLCC1,intron_variant,,ENST00000302500,;CLCC1,intron_variant,,ENST00000348264,;RP11-475E11.9,intron_variant,,ENST00000357393,;CLCC1,upstream_gene_variant,,ENST00000482889,;CLCC1,upstream_gene_variant,,ENST00000473062,;	G	ENST00000356970	Transcript	missense_variant	525/4803	417/1656	139/551	K/N	aaG/aaC		1		-1	CLCC1	HGNC	HGNC:29675	protein_coding	YES	CCDS41362.1	ENSP00000349456	Q96S66	A0A024R0G0	UPI0000073C42	NM_001048210.2	deleterious(0.02)		5/12		hmmpanther:PTHR34093,hmmpanther:PTHR34093:SF1,Pfam_domain:PF05934																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	12	108943980	108943980	C	G	1	0	0	0	0	1	0	0	0	3224	564	20	4		4	CLCC1	1	108943980	Missense_Mutation	SNP	C	C3L-00144_TP	8211469	108943980	140012442	75	4354											
CELSR2	0	.	GRCh38	chr1	109264617	109264617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggacagctattcctgcaGctgtgatccaggtatgctaa	9	11	11	10	0	0	1	0	1	0	0	2	2	2	2	2	2	4	5	2	2	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.5453G>T	p.Ser1818Ile	p.S1818I	ENST00000271332	11/34	122	100	22	126	126	0	strelka-varscan-mutect	CELSR2,missense_variant,p.Ser1818Ile,ENST00000271332,NM_001408.2;CELSR2,upstream_gene_variant,,ENST00000459940,;	T	ENST00000271332	Transcript	missense_variant	5514/10534	5453/8772	1818/2923	S/I	aGc/aTc		1		1	CELSR2	HGNC	HGNC:3231	protein_coding	YES	CCDS796.1	ENSP00000271332	Q9HCU4		UPI00000015B6	NM_001408.2	tolerated(0.4)		11/34		PROSITE_profiles:PS50026,hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026,PROSITE_patterns:PS01186,PROSITE_patterns:PS00010,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	109264617	109264617	G	T	1	0	0	0	0	1	0	0	0	2929	971	34	2		2	CELSR2	1	109264617	Missense_Mutation	SNP	G	C3L-00144_TP	320637	109264617	139691805	76	4355											
MYBPHL	0	.	GRCh38	chr1	109296898	109296898	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgatgaggtcagagacGatgcagctggtgcggtgata	10	8	16	7	3	1	4	1	3	0	1	1	7	1	4	1	3	3	2	1	3	1	1	rs771724099		C3L-00144_TP	C3L-00144_NB	G	G																c.615C>A	p.=	p.I205I	ENST00000357155	5/9	261	207	54	220	220	0	strelka-varscan-mutect	MYBPHL,synonymous_variant,p.=,ENST00000357155,NM_001010985.2,NM_001265613.1;MYBPHL,intron_variant,,ENST00000477962,;MYBPHL,upstream_gene_variant,,ENST00000489706,;	T	ENST00000357155	Transcript	synonymous_variant	665/1372	615/1065	205/354	I	atC/atA	rs771724099,COSM2117664	1		-1	MYBPHL	HGNC	HGNC:30434	protein_coding	YES	CCDS30793.1	ENSP00000349678	A2RUH7		UPI000022B031	NM_001010985.2,NM_001265613.1			5/9		Gene3D:2.60.40.10,Pfam_domain:PF00041,Prints_domain:PR00014,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,SMART_domains:SM00060,Superfamily_domains:SSF49265											0,1						LOW	1	SNV	1		0,1	1										PASS		rs771724099	.												T	2	4	12	109296898	109296898	G	T	1	0	0	0	0	0	0	0	1	10015	1048	37	1		1	MYBPHL	1	109296898	Silent	SNP	G	C3L-00144_TP	32281	109296898	139659524	77	4356											
KCNC4	0	.	GRCh38	chr1	110223348	110223348	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcgcttcgtgcgcatcCtgcgtatcttcaagctcaca	6	12	10	13	4	3	0	2	0	1	0	5	0	4	0	1	1	4	4	1	1	2	3	rs745804664		C3L-00144_TP	C3L-00144_NB	C	C																c.1063C>T	p.=	p.L355L	ENST00000369787	2/4	138	108	30	119	119	0	strelka-varscan-mutect	KCNC4,synonymous_variant,p.=,ENST00000369787,NM_004978.4;KCNC4,synonymous_variant,p.=,ENST00000413138,;KCNC4,synonymous_variant,p.=,ENST00000438661,NM_001039574.2;KCNC4,upstream_gene_variant,,ENST00000636402,;KCNC4,intron_variant,,ENST00000412512,;KCNC4,synonymous_variant,p.=,ENST00000469655,;KCNC4,non_coding_transcript_exon_variant,,ENST00000459877,;KCNC4,non_coding_transcript_exon_variant,,ENST00000489935,;	T	ENST00000369787	Transcript	synonymous_variant	1090/18750	1063/1908	355/635	L	Ctg/Ttg	rs745804664,COSM4827675,COSM4827676	1		1	KCNC4	HGNC	HGNC:6236	protein_coding	YES	CCDS821.1	ENSP00000358802	Q03721		UPI000013CAC8	NM_004978.4			2/4		Gene3D:1.20.120.350,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF48,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs745804664	.												T	2	4	12	110223348	110223348	C	T	1	0	0	0	0	0	0	0	1	7933	680	24	3		3	KCNC4	1	110223348	Silent	SNP	C	C3L-00144_TP	926450	110223348	138733074	78	4357											
CHI3L2	0	.	GRCh38	chr1	111230928	111230928	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgctctaccagaccatcaAcagtctcaaaaccaagtgag	15	7	7	12	0	3	2	2	1	2	1	4	3	3	2	3	0	4	1	3	0	5	1			C3L-00144_TP	C3L-00144_NB	A	A																c.257A>G	p.Asn86Ser	p.N86S	ENST00000445067	5/13	117	108	9	140	140	0	strelka-varscan-mutect	CHI3L2,missense_variant,p.Asn86Ser,ENST00000445067,;CHI3L2,missense_variant,p.Asn7Ser,ENST00000466741,NM_001025199.1;CHI3L2,missense_variant,p.Asn76Ser,ENST00000369744,NM_001025197.1;CHI3L2,missense_variant,p.Asn86Ser,ENST00000369748,NM_004000.2;CHI3L2,missense_variant,p.Asn7Ser,ENST00000524472,;CHI3L2,missense_variant,p.Asn86Ser,ENST00000528451,;CHI3L2,missense_variant,p.Asn86Ser,ENST00000486561,;CHI3L2,missense_variant,p.Asn7Ser,ENST00000477185,;CHI3L2,missense_variant,p.Asn7Ser,ENST00000467038,;CHI3L2,missense_variant,p.Asn86Ser,ENST00000474304,;CHI3L2,missense_variant,p.Asn7Ser,ENST00000497587,;CHI3L2,missense_variant,p.Asn55Ser,ENST00000533831,;CHI3L2,upstream_gene_variant,,ENST00000497220,;CHI3L2,non_coding_transcript_exon_variant,,ENST00000526684,;CHI3L2,non_coding_transcript_exon_variant,,ENST00000530597,;	G	ENST00000445067	Transcript	missense_variant	1028/2169	257/1173	86/390	N/S	aAc/aGc	COSM4020605	1		1	CHI3L2	HGNC	HGNC:1933	protein_coding	YES	CCDS30802.1	ENSP00000437082	Q15782		UPI0000126C1A		deleterious(0.03)		5/13		hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF82,Pfam_domain:PF00704,Gene3D:3.20.20.80,SMART_domains:SM00636,Superfamily_domains:SSF51445											1						MODERATE	1	SNV	5		1	1										PASS		.	.												G	3	3	12	111230928	111230928	A	G	1	0	0	0	0	1	0	0	0	3100	43	2	5		5	CHI3L2	1	111230928	Missense_Mutation	SNP	A	C3L-00144_TP	1007580	111230928	137725494	79	4358											
CHI3L2	0	.	GRCh38	chr1	111230940	111230940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaccatcaacagtctcaaaaCcaagtgagtaagatgggggt	15	7	11	8	0	2	2	2	1	1	1	3	3	2	2	2	2	2	1	2	2	5	1			C3L-00144_TP	C3L-00144_NB	C	C																c.269C>T	p.Thr90Ile	p.T90I	ENST00000445067	5/13	94	85	9	119	119	0	strelka-varscan-mutect	CHI3L2,missense_variant,p.Thr90Ile,ENST00000445067,;CHI3L2,missense_variant,p.Thr11Ile,ENST00000466741,NM_001025199.1;CHI3L2,missense_variant,p.Thr80Ile,ENST00000369744,NM_001025197.1;CHI3L2,missense_variant,p.Thr90Ile,ENST00000369748,NM_004000.2;CHI3L2,missense_variant,p.Thr11Ile,ENST00000524472,;CHI3L2,missense_variant,p.Thr90Ile,ENST00000528451,;CHI3L2,missense_variant,p.Thr90Ile,ENST00000486561,;CHI3L2,missense_variant,p.Thr11Ile,ENST00000477185,;CHI3L2,missense_variant,p.Thr11Ile,ENST00000467038,;CHI3L2,missense_variant,p.Thr90Ile,ENST00000474304,;CHI3L2,missense_variant,p.Thr11Ile,ENST00000497587,;CHI3L2,missense_variant,p.Thr59Ile,ENST00000533831,;CHI3L2,upstream_gene_variant,,ENST00000497220,;CHI3L2,non_coding_transcript_exon_variant,,ENST00000526684,;CHI3L2,non_coding_transcript_exon_variant,,ENST00000530597,;	T	ENST00000445067	Transcript	missense_variant	1040/2169	269/1173	90/390	T/I	aCc/aTc	COSM5260760	1		1	CHI3L2	HGNC	HGNC:1933	protein_coding	YES	CCDS30802.1	ENSP00000437082	Q15782		UPI0000126C1A		tolerated(0.06)		5/13		hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF82,Pfam_domain:PF00704,Gene3D:3.20.20.80,SMART_domains:SM00636,Superfamily_domains:SSF51445											1						MODERATE	1	SNV	5		1	1										PASS		rs1429656804	.												T	3	4	12	111230940	111230940	C	T	1	0	0	0	0	1	0	0	0	3100	521	18	3		3	CHI3L2	1	111230940	Missense_Mutation	SNP	C	C3L-00144_TP	12	111230940	137725482	80	4359											
CHIA	0	.	GRCh38	chr1	111319437	111319437	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtttcccctaatctccacCctgaagaaggccctcggcct	9	9	7	16	1	1	2	0	1	1	1	4	2	2	2	6	2	0	1	6	2	4	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1146C>A	p.=	p.T382T	ENST00000369740	11/12	242	192	50	224	223	1	strelka-varscan-mutect	CHIA,synonymous_variant,p.=,ENST00000369740,NM_201653.3;CHIA,synonymous_variant,p.=,ENST00000343320,;CHIA,synonymous_variant,p.=,ENST00000422815,;CHIA,synonymous_variant,p.=,ENST00000430615,NM_001258003.1,NM_021797.3,NM_001258001.1;CHIA,synonymous_variant,p.=,ENST00000451398,NM_001040623.2;CHIA,synonymous_variant,p.=,ENST00000353665,NM_001258004.1,NM_001258005.1;CHIA,synonymous_variant,p.=,ENST00000483391,NM_001258002.1;CHIA,synonymous_variant,p.=,ENST00000489524,;RP5-1125M8.2,intron_variant,,ENST00000426321,;CHIA,3_prime_UTR_variant,,ENST00000352594,;CHIA,non_coding_transcript_exon_variant,,ENST00000477918,;RP5-1125M8.3,upstream_gene_variant,,ENST00000422272,;	A	ENST00000369740	Transcript	synonymous_variant	1249/1625	1146/1431	382/476	T	acC/acA		1		1	CHIA	HGNC	HGNC:17432	protein_coding	YES	CCDS41368.1	ENSP00000358755	Q9BZP6		UPI00000727DC	NM_201653.3			11/12		Gene3D:3.20.20.80,hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF188,Superfamily_domains:SSF51445																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	111319437	111319437	C	A	1	0	0	0	0	0	0	0	1	3101	610	22	2		2	CHIA	1	111319437	Silent	SNP	C	C3L-00144_TP	88497	111319437	137636985	81	4360											
TSPAN2	0	.	GRCh38	chr1	115050522	115050522	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgagtttcgtatcgcacAgcagaggaccatgctgaata	11	10	11	9	3	0	3	0	2	0	1	3	4	0	4	1	1	2	5	1	1	3	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.634T>A	p.Cys212Ser	p.C212S	ENST00000369516	8/8	330	284	46	352	352	0	strelka-varscan-mutect	TSPAN2,missense_variant,p.Cys212Ser,ENST00000369516,NM_005725.4;TSPAN2,missense_variant,p.Cys187Ser,ENST00000369515,NM_001308315.1;TSPAN2,missense_variant,p.Cys178Ser,ENST00000433172,;TSPAN2,non_coding_transcript_exon_variant,,ENST00000491992,;	T	ENST00000369516	Transcript	missense_variant	666/3177	634/666	212/221	C/S	Tgt/Agt		1		-1	TSPAN2	HGNC	HGNC:20659	protein_coding	YES	CCDS881.1	ENSP00000358529	O60636		UPI0000137765	NM_005725.4	deleterious(0)		8/8		hmmpanther:PTHR19282:SF155,hmmpanther:PTHR19282,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	115050522	115050522	A	T	1	0	0	0	0	1	0	0	0	17149	188	7	4		4	TSPAN2	1	115050522	Missense_Mutation	SNP	A	C3L-00144_TP	3731085	115050522	133905900	82	4361											
PHGDH	0	.	GRCh38	chr1	119734682	119734682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaggtctcggcctcctttGgtgttcagcagctgcccctg	4	11	12	14	1	2	1	1	0	1	1	4	1	3	1	4	3	3	3	4	3	0	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.559G>T	p.Gly187Cys	p.G187C	ENST00000369409	6/12	455	395	60	394	392	2	strelka-varscan-mutect	PHGDH,missense_variant,p.Gly153Cys,ENST00000369407,;PHGDH,missense_variant,p.Gly187Cys,ENST00000369409,NM_006623.3;PHGDH,non_coding_transcript_exon_variant,,ENST00000469443,;PHGDH,upstream_gene_variant,,ENST00000482968,;PHGDH,downstream_gene_variant,,ENST00000462324,;PHGDH,downstream_gene_variant,,ENST00000493622,;	T	ENST00000369409	Transcript	missense_variant	695/1913	559/1602	187/533	G/C	Ggt/Tgt		1		1	PHGDH	HGNC	HGNC:8923	protein_coding	YES	CCDS904.1	ENSP00000358417	O43175		UPI000013586A	NM_006623.3	deleterious(0)		6/12		Gene3D:3.40.50.720,Pfam_domain:PF00389,Pfam_domain:PF02826,hmmpanther:PTHR10996,hmmpanther:PTHR10996:SF20,Superfamily_domains:SSF51735,TIGRFAM_domain:TIGR01327																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	119734682	119734682	G	T	1	0	0	0	0	1	0	0	0	11928	1348	47	2		2	PHGDH	1	119734682	Missense_Mutation	SNP	G	C3L-00144_TP	4684160	119734682	129221740	83	4362											
ANKRD34A	0	.	GRCh38	chr1	145961494	145961494	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgaggccaccgcggcgcccCcacccccggcgcaagcgtgc	5	1	14	21	7	0	0	0	0	0	0	0	1	0	0	6	3	2	1	6	3	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.266G>T	p.Gly89Val	p.G89V	ENST00000606888	4/4	17	14	3	28	28	0	strelka-mutect	ANKRD34A,missense_variant,p.Gly89Val,ENST00000606888,NM_001039888.3;ANKRD34A,missense_variant,p.Gly89Val,ENST00000619813,;ANKRD34A,missense_variant,p.Gly89Val,ENST00000619519,;CH17-270A2.2,intron_variant,,ENST00000625258,;LIX1L,upstream_gene_variant,,ENST00000604000,NM_153713.2;POLR3GL,upstream_gene_variant,,ENST00000369314,NM_032305.1;POLR3GL,upstream_gene_variant,,ENST00000369313,;CH17-270A2.1,non_coding_transcript_exon_variant,,ENST00000616257,;RP11-315I20.1,downstream_gene_variant,,ENST00000630257,;RP11-315I20.1,downstream_gene_variant,,ENST00000600340,;CH17-270A2.2,intron_variant,,ENST00000630636,;POLR3GL,upstream_gene_variant,,ENST00000622508,;POLR3GL,upstream_gene_variant,,ENST00000471706,;	A	ENST00000606888	Transcript	missense_variant	1561/3613	266/1491	89/496	G/V	gGg/gTg		1		-1	ANKRD34A	HGNC	HGNC:27639	protein_coding	YES	CCDS72874.1	ENSP00000475189	Q69YU3		UPI00001410C4	NM_001039888.3	deleterious(0.01)		4/4		Low_complexity_(Seg):seg,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24156:SF4,hmmpanther:PTHR24156,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	12	145961494	145961494	C	A	1	0	0	0	0	1	0	0	0	767	623	22	2		2	ANKRD34A	1	145961494	Missense_Mutation	SNP	C	C3L-00144_TP	26226812	145961494	102994928	84	4363											
PDE4DIP	0	.	GRCh38	chr1	148966940	148966940	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatgacttagagagactGcgcgatgtcctctcctccaa	10	10	9	12	2	2	3	1	1	1	2	5	6	4	3	3	0	1	0	3	0	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1569G>A	p.=	p.L523L	ENST00000369356	12/44	238	210	28	176	175	1	varscan-mutect	PDE4DIP,synonymous_variant,p.=,ENST00000529945,;PDE4DIP,synonymous_variant,p.=,ENST00000585156,;PDE4DIP,synonymous_variant,p.=,ENST00000369356,NM_001198834.3;PDE4DIP,synonymous_variant,p.=,ENST00000524974,;PDE4DIP,synonymous_variant,p.=,ENST00000369354,NM_014644.5;PDE4DIP,synonymous_variant,p.=,ENST00000618462,NM_001198832.2;PDE4DIP,synonymous_variant,p.=,ENST00000313431,NM_001002811.2;PDE4DIP,synonymous_variant,p.=,ENST00000369351,;PDE4DIP,synonymous_variant,p.=,ENST00000369349,NM_001002812.2;PDE4DIP,synonymous_variant,p.=,ENST00000479408,;PDE4DIP,downstream_gene_variant,,ENST00000617454,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000467859,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000496263,;	A	ENST00000369356	Transcript	synonymous_variant	1860/8307	1569/7089	523/2362	L	ctG/ctA		1		1	PDE4DIP	HGNC	HGNC:15580	protein_coding	YES	CCDS72892.1	ENSP00000358363		A0A0A0MRM1	UPI000292EFC6	NM_001198834.3			12/44		Low_complexity_(Seg):seg,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF501																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	148966940	148966940	G	A	1	0	0	0	0	0	0	0	1	11731	1306	46	3		3	PDE4DIP	1	148966940	Silent	SNP	G	C3L-00144_TP	3005446	148966940	99989482	85	4364											
TCHH	0	.	GRCh38	chr1	152109107	152109107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaattttctcccttgttcCtgatggcgcagttcctcttc	5	16	8	12	1	2	1	0	1	2	0	6	2	4	2	3	2	0	3	3	2	1	6	rs542702239		C3L-00144_TP	C3L-00144_NB	C	C																c.4110G>T	p.Gln1370His	p.Q1370H	ENST00000614923	3/3	592	503	89	398	397	1	strelka-varscan-mutect	TCHH,missense_variant,p.Gln1370His,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Gln1370His,ENST00000368804,;	A	ENST00000614923	Transcript	missense_variant	4205/6995	4110/5832	1370/1943	Q/H	caG/caT	rs542702239	1		-1	TCHH	HGNC	HGNC:11791	protein_coding	YES	CCDS41396.1	ENSP00000480484	Q07283		UPI0000458A5E	NM_007113.3	deleterious_low_confidence(0.01)		3/3		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855:SF1,hmmpanther:PTHR34855																	MODERATE	1	SNV	5			1										PASS		rs542702239	.												A	3	1	12	152109107	152109107	C	A	1	0	0	0	0	1	0	0	0	16107	680	24	2		2	TCHH	1	152109107	Missense_Mutation	SNP	C	C3L-00144_TP	3142167	152109107	96847315	86	4365											
HRNR	0	.	GRCh38	chr1	152219029	152219029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcagactcatgctgaccaTagctggaagattgacctgag	12	8	12	9	0	1	5	1	3	0	2	1	6	1	6	2	2	2	3	2	2	2	2	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2600A>G	p.Tyr867Cys	p.Y867C	ENST00000368801	3/3	247	191	56	220	220	0	strelka-varscan-mutect	HRNR,missense_variant,p.Tyr867Cys,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	C	ENST00000368801	Transcript	missense_variant	2676/9623	2600/8553	867/2850	Y/C	tAt/tGt		1		-1	HRNR	HGNC	HGNC:20846	protein_coding	YES	CCDS30859.1	ENSP00000357791	Q86YZ3		UPI00001D7CAD	NM_001009931.2	tolerated(0.1)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	152219029	152219029	T	C	1	0	0	0	0	1	0	0	0	7254	1406	49	5		5	HRNR	1	152219029	Missense_Mutation	SNP	T	C3L-00144_TP	109922	152219029	96737393	87	4366											
HRNR	0	.	GRCh38	chr1	152219339	152219339	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agacccttgtcggccgtggcCcgaagattgatgggagcccg	7	7	15	12	4	0	3	0	1	0	2	1	5	0	4	4	3	1	0	4	3	1	2	rs750750547		C3L-00144_TP	C3L-00144_NB	C	C																c.2290G>T	p.Gly764Cys	p.G764C	ENST00000368801	3/3	345	274	71	362	360	2	strelka-varscan-mutect	HRNR,missense_variant,p.Gly764Cys,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	A	ENST00000368801	Transcript	missense_variant	2366/9623	2290/8553	764/2850	G/C	Ggc/Tgc	rs750750547,COSM3473924	1		-1	HRNR	HGNC	HGNC:20846	protein_coding	YES	CCDS30859.1	ENSP00000357791	Q86YZ3		UPI00001D7CAD	NM_001009931.2	tolerated(0.15)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs750750547	.												A	3	1	12	152219339	152219339	C	A	1	0	0	0	0	1	0	0	0	7254	623	22	2		2	HRNR	1	152219339	Missense_Mutation	SNP	C	C3L-00144_TP	310	152219339	96737083	88	4367											
HRNR	0	.	GRCh38	chr1	152219657	152219657	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggccgcgactaggagactGgccagatccagagccctgtt	8	7	13	13	3	0	3	0	0	0	3	2	5	1	3	4	3	1	1	4	3	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1972C>T	p.Gln658Ter	p.Q658*	ENST00000368801	3/3	941	782	159	832	830	2	strelka-varscan-mutect	HRNR,stop_gained,p.Gln658Ter,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	A	ENST00000368801	Transcript	stop_gained	2048/9623	1972/8553	658/2850	Q/*	Cag/Tag		1		-1	HRNR	HGNC	HGNC:20846	protein_coding	YES	CCDS30859.1	ENSP00000357791	Q86YZ3		UPI00001D7CAD	NM_001009931.2			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	152219657	152219657	G	A	1	0	0	0	0	0	1	0	0	7254	1357	47	3		3	HRNR	1	152219657	Nonsense_Mutation	SNP	G	C3L-00144_TP	318	152219657	96736765	89	4368											
FLG	0	.	GRCh38	chr1	152305184	152305184	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgatggtttctggaagcAgacccagaccacctctcaga	11	7	9	14	1	2	3	1	0	2	3	3	5	2	4	4	2	1	2	4	2	1	1	rs753599171		C3L-00144_TP	C3L-00144_NB	A	A																c.9702T>A	p.=	p.S3234S	ENST00000368799	3/3	567	434	133	542	541	1	strelka-varscan-mutect	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368799	Transcript	synonymous_variant	9738/12747	9702/12186	3234/4061	S	tcT/tcA	rs753599171	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1			3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571																	LOW	1	SNV	1			1										PASS		rs753599171	.												T	2	4	12	152305184	152305184	A	T	1	0	0	0	0	0	0	0	1	5784	175	7	4		4	FLG	1	152305184	Silent	SNP	A	C3L-00144_TP	85527	152305184	96651238	90	4369											
LCE2A	0	.	GRCh38	chr1	152699135	152699135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaggccccgtctcttccaCcggcaccggcaccagagccc	7	4	9	21	3	1	1	0	0	1	1	3	1	2	1	7	3	1	2	7	3	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.234C>A	p.His78Gln	p.H78Q	ENST00000368779	2/2	261	207	54	255	255	0	strelka-varscan-mutect	LCE2A,missense_variant,p.His78Gln,ENST00000368779,NM_178428.3;	A	ENST00000368779	Transcript	missense_variant	285/592	234/321	78/106	H/Q	caC/caA		1		1	LCE2A	HGNC	HGNC:29469	protein_coding	YES	CCDS1021.1	ENSP00000357768	Q5TA79		UPI00001927D5	NM_178428.3	tolerated_low_confidence(0.36)		2/2		Pfam_domain:PF14672,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF51,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	152699135	152699135	C	A	1	0	0	0	0	1	0	0	0	8570	506	18	2		2	LCE2A	1	152699135	Missense_Mutation	SNP	C	C3L-00144_TP	393951	152699135	96257287	91	4370											
KPRP	0	.	GRCh38	chr1	152760486	152760486	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actactgcaccccaccccgcCgctctgaacccatatataac	11	7	4	19	2	1	1	0	1	1	0	1	1	1	1	6	0	4	2	6	0	5	4			C3L-00144_TP	C3L-00144_NB	C	C																c.898C>A	p.Arg300Ser	p.R300S	ENST00000606109	1/1	118	100	18	107	107	0	strelka-varscan-mutect	KPRP,missense_variant,p.Arg300Ser,ENST00000606109,NM_001025231.1;	A	ENST00000606109	Transcript	missense_variant	926/2492	898/1740	300/579	R/S	Cgc/Agc	COSM1256056	1		1	KPRP	HGNC	HGNC:31823	protein_coding	YES	CCDS30862.1	ENSP00000475216	Q5T749		UPI0000199942	NM_001025231.1	deleterious(0.01)		1/1		hmmpanther:PTHR12241:SF98,hmmpanther:PTHR12241											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	12	152760486	152760486	C	A	1	0	0	0	0	1	0	0	0	8316	652	23	1		1	KPRP	1	152760486	Missense_Mutation	SNP	C	C3L-00144_TP	61351	152760486	96195936	92	4371											
KPRP	0	.	GRCh38	chr1	152760771	152760771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaccagtgtccagagtcaCcactgcagcgatgtccacct	9	9	9	14	1	1	2	1	1	0	1	3	3	3	2	5	0	2	1	5	0	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1183C>T	p.Pro395Ser	p.P395S	ENST00000606109	1/1	179	155	24	159	159	0	strelka-varscan-mutect	KPRP,missense_variant,p.Pro395Ser,ENST00000606109,NM_001025231.1;	T	ENST00000606109	Transcript	missense_variant	1211/2492	1183/1740	395/579	P/S	Cca/Tca		1		1	KPRP	HGNC	HGNC:31823	protein_coding	YES	CCDS30862.1	ENSP00000475216	Q5T749		UPI0000199942	NM_001025231.1	tolerated(1)		1/1		Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	12	152760771	152760771	C	T	1	0	0	0	0	1	0	0	0	8316	507	18	3		3	KPRP	1	152760771	Missense_Mutation	SNP	C	C3L-00144_TP	285	152760771	96195651	93	4372											
LCE1C	0	.	GRCh38	chr1	152805309	152805309	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctggagccacagctgcccCcagagctggagccacagcag	10	3	13	15	0	0	1	0	0	0	1	0	3	0	3	4	2	7	4	4	2	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.170G>T	p.Gly57Val	p.G57V	ENST00000607093	1/1	542	417	125	442	441	1	strelka-varscan-mutect	LCE1C,missense_variant,p.Gly57Val,ENST00000607093,NM_001276331.1,NM_178351.3;LCE1C,missense_variant,p.Gly27Val,ENST00000606576,;	A	ENST00000607093	Transcript	missense_variant	170/644	170/357	57/118	G/V	gGg/gTg		1		-1	LCE1C	HGNC	HGNC:29464	protein_coding	YES	CCDS1026.1	ENSP00000475270	Q5T751		UPI0000140B0A	NM_001276331.1,NM_178351.3	deleterious_low_confidence(0)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23263,Pfam_domain:PF14672																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	12	152805309	152805309	C	A	1	0	0	0	0	1	0	0	0	8566	623	22	2		2	LCE1C	1	152805309	Missense_Mutation	SNP	C	C3L-00144_TP	44538	152805309	96151113	94	4373											
CHTOP	0	.	GRCh38	chr1	153645136	153645136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgtggacgagggagaggtgCccttgctcgccctgtattga	6	9	15	11	3	0	2	0	1	0	1	1	5	0	3	3	3	2	2	3	3	1	3	rs769233987		C3L-00144_TP	C3L-00144_NB	C	C																c.617C>A	p.Ala206Asp	p.A206D	ENST00000368690	6/6	287	268	19	242	241	1	strelka-varscan-mutect	CHTOP,missense_variant,p.Ala206Asp,ENST00000368690,NM_001206612.1;CHTOP,missense_variant,p.Ala205Asp,ENST00000368694,NM_015607.3;CHTOP,missense_variant,p.Ala159Asp,ENST00000403433,NM_001317077.1;CHTOP,missense_variant,p.Ala180Asp,ENST00000368687,;CHTOP,3_prime_UTR_variant,,ENST00000614256,NM_001244664.1;CHTOP,downstream_gene_variant,,ENST00000368686,;CHTOP,non_coding_transcript_exon_variant,,ENST00000495554,;	A	ENST00000368690	Transcript	missense_variant	996/2165	617/750	206/249	A/D	gCc/gAc	rs769233987	1		1	CHTOP	HGNC	HGNC:24511	protein_coding	YES	CCDS72917.1	ENSP00000357679	Q9Y3Y2		UPI00000467E4	NM_001206612.1	tolerated(0.49)		6/6		Pfam_domain:PF13865,hmmpanther:PTHR19965,hmmpanther:PTHR19965:SF22,Low_complexity_(Seg):seg,SMART_domains:SM01218																	MODERATE	1	SNV	1			1										PASS		rs769233987	.												A	3	1	12	153645136	153645136	C	A	1	0	0	0	0	1	0	0	0	3176	739	26	2		2	CHTOP	1	153645136	Missense_Mutation	SNP	C	C3L-00144_TP	839827	153645136	95311286	95	4374											
INTS3	0	.	GRCh38	chr1	153764123	153764123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcatcacccaggaagaCtttgactcggagcagctgtc	9	10	10	12	1	2	2	2	1	1	1	5	4	2	4	1	2	2	2	1	2	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1827C>T	p.=	p.D609D	ENST00000318967	18/30	171	153	18	118	118	0	strelka-varscan-mutect	INTS3,synonymous_variant,p.=,ENST00000318967,NM_001324475.1,NM_023015.3;INTS3,synonymous_variant,p.=,ENST00000435409,;INTS3,synonymous_variant,p.=,ENST00000512605,;INTS3,3_prime_UTR_variant,,ENST00000476843,;INTS3,3_prime_UTR_variant,,ENST00000503133,;INTS3,non_coding_transcript_exon_variant,,ENST00000481797,;INTS3,upstream_gene_variant,,ENST00000368670,;INTS3,upstream_gene_variant,,ENST00000368669,;INTS3,downstream_gene_variant,,ENST00000491790,;INTS3,downstream_gene_variant,,ENST00000480659,;	T	ENST00000318967	Transcript	synonymous_variant	2395/5235	1827/3129	609/1042	D	gaC/gaT		1		1	INTS3	HGNC	HGNC:26153	protein_coding	YES	CCDS1052.1	ENSP00000318641	Q68E01		UPI0000231CA8	NM_001324475.1,NM_023015.3			18/30		hmmpanther:PTHR13587																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	153764123	153764123	C	T	1	0	0	0	0	0	0	0	1	7681	579	20	3		3	INTS3	1	153764123	Silent	SNP	C	C3L-00144_TP	118987	153764123	95192299	96	4375											
INTS3	0	.	GRCh38	chr1	153764201	153764201	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttcgaggggaggtcctGcctgaggagattactgagga	9	9	15	8	1	0	3	0	2	0	1	2	7	1	5	2	5	2	0	2	5	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1905G>T	p.=	p.L635L	ENST00000318967	18/30	172	151	21	154	153	1	strelka-varscan-mutect	INTS3,synonymous_variant,p.=,ENST00000318967,NM_001324475.1,NM_023015.3;INTS3,synonymous_variant,p.=,ENST00000435409,;INTS3,synonymous_variant,p.=,ENST00000512605,;INTS3,3_prime_UTR_variant,,ENST00000476843,;INTS3,3_prime_UTR_variant,,ENST00000503133,;INTS3,non_coding_transcript_exon_variant,,ENST00000481797,;INTS3,upstream_gene_variant,,ENST00000368670,;INTS3,upstream_gene_variant,,ENST00000368669,;INTS3,downstream_gene_variant,,ENST00000491790,;INTS3,downstream_gene_variant,,ENST00000480659,;	T	ENST00000318967	Transcript	synonymous_variant	2473/5235	1905/3129	635/1042	L	ctG/ctT		1		1	INTS3	HGNC	HGNC:26153	protein_coding	YES	CCDS1052.1	ENSP00000318641	Q68E01		UPI0000231CA8	NM_001324475.1,NM_023015.3			18/30		Low_complexity_(Seg):seg,hmmpanther:PTHR13587																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	153764201	153764201	G	T	1	0	0	0	0	0	0	0	1	7681	1306	46	2		2	INTS3	1	153764201	Silent	SNP	G	C3L-00144_TP	78	153764201	95192221	97	4376											
NUP210L	0	.	GRCh38	chr1	154089551	154089551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacctctacagctggactaGggttcaggacacctggatga	12	8	11	10	0	2	1	1	1	1	0	2	4	2	4	2	4	3	2	2	4	3	3			C3L-00144_TP	C3L-00144_NB	G	G																c.2231C>A	p.Pro744His	p.P744H	ENST00000368559	16/40	198	176	22	158	158	0	strelka-varscan-mutect	NUP210L,missense_variant,p.Pro744His,ENST00000368559,NM_207308.2;NUP210L,missense_variant,p.Pro744His,ENST00000271854,NM_001159484.1;	T	ENST00000368559	Transcript	missense_variant	2303/5889	2231/5667	744/1888	P/H	cCt/cAt	COSM4186461	1		-1	NUP210L	HGNC	HGNC:29915	protein_coding	YES	CCDS41399.1	ENSP00000357547	Q5VU65		UPI000023724F	NM_207308.2	deleterious(0)		16/40		hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF1											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	12	154089551	154089551	G	T	1	0	0	0	0	1	0	0	0	10826	1000	35	2		2	NUP210L	1	154089551	Missense_Mutation	SNP	G	C3L-00144_TP	325350	154089551	94866871	98	4377											
PKLR	0	.	GRCh38	chr1	155293503	155293503	+	Missense_Mutation	SNP	T	T	A																															agtctcccctgacagcatgaTgcagtcagccccatccagca																								novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1204A>T	p.Ile402Phe	p.I402F	ENST00000342741	8/11	428	325	103	329	329	0	strelka-varscan-mutect	PKLR,missense_variant,p.Ile371Phe,ENST00000392414,NM_181871.3;PKLR,missense_variant,p.Ile402Phe,ENST00000342741,NM_000298.5;HCN3,downstream_gene_variant,,ENST00000368358,NM_020897.2;HCN3,downstream_gene_variant,,ENST00000496230,;HCN3,downstream_gene_variant,,ENST00000492035,;PKLR,downstream_gene_variant,,ENST00000434082,;	A	ENST00000342741	Transcript	missense_variant	1243/2083	1204/1725	402/574	I/F	Atc/Ttc		1		-1	PKLR	HGNC	HGNC:9020	protein_coding	YES	CCDS1109.1	ENSP00000339933	P30613		UPI0000001292	NM_000298.5	deleterious(0)		8/11		hmmpanther:PTHR11817,hmmpanther:PTHR11817:SF31,TIGRFAM_domain:TIGR01064,Pfam_domain:PF00224,Gene3D:3.20.20.60,Superfamily_domains:SSF51621,Prints_domain:PR01050																	MODERATE	1	SNV	1			1										PASS		rs902651473	.												A	3	1	12	155293503	155293503	T	A	1	0	0	0	0	1	0	0	0	12072	1464	51	4		4	PKLR	1	155293503	Missense_Mutation	SNP	T	C3L-00144_TP	1203952	155293503	93662919	99	4378	100	2									
PKLR	0	.	GRCh38	chr1	155293504	155293504	+	Nonsense_Mutation	SNP	G	G	T																															gtctcccctgacagcatgatGcagtcagccccatccagcac																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1203C>A	p.Cys401Ter	p.C401*	ENST00000342741	8/11	426	325	101	328	328	0	strelka-varscan-mutect	PKLR,stop_gained,p.Cys370Ter,ENST00000392414,NM_181871.3;PKLR,stop_gained,p.Cys401Ter,ENST00000342741,NM_000298.5;HCN3,downstream_gene_variant,,ENST00000368358,NM_020897.2;HCN3,downstream_gene_variant,,ENST00000496230,;HCN3,downstream_gene_variant,,ENST00000492035,;PKLR,downstream_gene_variant,,ENST00000434082,;	T	ENST00000342741	Transcript	stop_gained	1242/2083	1203/1725	401/574	C/*	tgC/tgA		1		-1	PKLR	HGNC	HGNC:9020	protein_coding	YES	CCDS1109.1	ENSP00000339933	P30613		UPI0000001292	NM_000298.5			8/11		hmmpanther:PTHR11817,hmmpanther:PTHR11817:SF31,TIGRFAM_domain:TIGR01064,Pfam_domain:PF00224,Gene3D:3.20.20.60,Superfamily_domains:SSF51621,Prints_domain:PR01050																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	155293504	155293504	G	T	1	0	0	0	0	0	1	0	0	12072	1311	46	2		2	PKLR	1	155293504	Nonsense_Mutation	SNP	G	C3L-00144_TP	1	155293504	93662918	100	4379	100	2									
INSRR	0	.	GRCh38	chr1	156841488	156841488	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccctggtagggttgttCtgccagggtcacaatctccc	6	10	12	13	0	3	0	1	0	2	0	4	0	3	0	3	4	1	3	3	4	2	3	rs780251872		C3L-00144_TP	C3L-00144_NB	C	C																c.3568G>T	p.Glu1190Ter	p.E1190*	ENST00000368195	21/22	298	273	25	232	232	0	strelka-varscan-mutect	INSRR,stop_gained,p.Glu1190Ter,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;	A	ENST00000368195	Transcript	stop_gained	3965/5101	3568/3894	1190/1297	E/*	Gaa/Taa	rs780251872	1		-1	INSRR	HGNC	HGNC:6093	protein_coding	YES	CCDS1160.1	ENSP00000357178	P14616		UPI000012D8BD	NM_014215.2			21/22		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF338,PIRSF_domain:PIRSF000620,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109																	HIGH	1	SNV	2			1										PASS		rs780251872	.												A	4	1	12	156841488	156841488	C	A	1	0	0	0	0	0	1	0	0	7676	922	32	2		2	INSRR	1	156841488	Nonsense_Mutation	SNP	C	C3L-00144_TP	1547984	156841488	92114934	101	4380											
ARHGEF11	0	.	GRCh38	chr1	156948476	156948476	+	Missense_Mutation	SNP	C	C	A																															cttgaggctttcagagcggcCcaggcgaatctctgagcgtg																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1948G>T	p.Gly650Cys	p.G650C	ENST00000368194	23/41	212	185	27	194	194	0	strelka-varscan-mutect	ARHGEF11,missense_variant,p.Gly650Cys,ENST00000368194,NM_198236.2;ARHGEF11,missense_variant,p.Gly610Cys,ENST00000361409,NM_014784.3;ARHGEF11,upstream_gene_variant,,ENST00000487682,;ARHGEF11,upstream_gene_variant,,ENST00000461678,;	A	ENST00000368194	Transcript	missense_variant	2988/6889	1948/4689	650/1562	G/C	Ggc/Tgc		1		-1	ARHGEF11	HGNC	HGNC:14580	protein_coding	YES	CCDS1163.1	ENSP00000357177	O15085		UPI00001D62A7	NM_198236.2	deleterious(0.05)		23/41		hmmpanther:PTHR12673:SF111,hmmpanther:PTHR12673																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	156948476	156948476	C	A	1	0	0	0	0	1	0	0	0	1026	623	22	2		2	ARHGEF11	1	156948476	Missense_Mutation	SNP	C	C3L-00144_TP	106988	156948476	92007946	102	4381	101	2									
ARHGEF11	0	.	GRCh38	chr1	156948478	156948478	+	Missense_Mutation	SNP	A	A	C																															tgaggctttcagagcggcccAggcgaatctctgagcgtgaa																								novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1946T>G	p.Leu649Arg	p.L649R	ENST00000368194	23/41	205	176	29	189	189	0	strelka-varscan-mutect	ARHGEF11,missense_variant,p.Leu649Arg,ENST00000368194,NM_198236.2;ARHGEF11,missense_variant,p.Leu609Arg,ENST00000361409,NM_014784.3;ARHGEF11,upstream_gene_variant,,ENST00000487682,;ARHGEF11,upstream_gene_variant,,ENST00000461678,;	C	ENST00000368194	Transcript	missense_variant	2986/6889	1946/4689	649/1562	L/R	cTg/cGg		1		-1	ARHGEF11	HGNC	HGNC:14580	protein_coding	YES	CCDS1163.1	ENSP00000357177	O15085		UPI00001D62A7	NM_198236.2	deleterious(0)		23/41		Low_complexity_(Seg):seg,hmmpanther:PTHR12673:SF111,hmmpanther:PTHR12673																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	156948478	156948478	A	C	1	0	0	0	0	1	0	0	0	1026	188	7	5		5	ARHGEF11	1	156948478	Missense_Mutation	SNP	A	C3L-00144_TP	2	156948478	92007944	103	4382	101	2									
CD1C	0	.	GRCh38	chr1	158291338	158291338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacctagagttgttatttcGtttctacctctttggattaa	9	18	7	7	1	2	2	0	0	2	2	3	3	2	3	2	1	1	3	2	1	4	8	rs375747674		C3L-00144_TP	C3L-00144_NB	G	G																c.266G>T	p.Arg89Leu	p.R89L	ENST00000368170	2/6	330	288	42	262	259	3	strelka-varscan-mutect	CD1C,missense_variant,p.Arg89Leu,ENST00000368170,NM_001765.2;CD1C,missense_variant,p.Arg24Leu,ENST00000443761,;	T	ENST00000368170	Transcript	missense_variant	545/1435	266/1002	89/333	R/L	cGt/cTt	rs375747674	1		1	CD1C	HGNC	HGNC:1636	protein_coding	YES	CCDS1175.1	ENSP00000357152	P29017		UPI000013DF78	NM_001765.2	tolerated(0.05)		2/6		hmmpanther:PTHR16675:SF155,hmmpanther:PTHR16675,Pfam_domain:PF16497,Gene3D:3.30.500.10,Superfamily_domains:SSF54452																	MODERATE	1	SNV	1			1										PASS		rs375747674	.												T	3	4	12	158291338	158291338	G	T	1	0	0	0	0	1	0	0	0	2679	1145	40	1		1	CD1C	1	158291338	Missense_Mutation	SNP	G	C3L-00144_TP	1342860	158291338	90665084	104	4383											
CD1C	0	.	GRCh38	chr1	158292763	158292763	+	Frame_Shift_Del	DEL	G	G	-																															atattcttcctaatgctgatGggacatggtatcttcaggtg																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.780delG	p.Thr261HisfsTer6	p.T261Hfs*6	ENST00000368170	4/6	397	349	48	339	339	0	sindel-varindel-pindel	CD1C,frameshift_variant,p.Thr261HisfsTer6,ENST00000368170,NM_001765.2;CD1C,frameshift_variant,p.Thr196HisfsTer6,ENST00000443761,;	-	ENST00000368170	Transcript	frameshift_variant	1057/1435	778/1002	260/333	G/X	Ggg/gg		1		1	CD1C	HGNC	HGNC:1636	protein_coding	YES	CCDS1175.1	ENSP00000357152	P29017		UPI000013DF78	NM_001765.2			4/6		PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF155,hmmpanther:PTHR16675,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	12	158292763	158292763	G	-	1	0	1	0	1	0	0	0	0	2679	1348	47	0		0	CD1C	1	158292763	Frame_Shift_Del	DEL	G	C3L-00144_TP	1425	158292763	90663659	105	4384											
OR10T2	0	.	GRCh38	chr1	158398669	158398669	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgatccttgtctgaggcAgacttggacttgggccgcag	8	10	13	10	1	1	3	0	2	1	1	2	4	2	4	2	3	1	2	2	3	1	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.798T>A	p.=	p.S266S	ENST00000334438	1/1	191	143	48	152	152	0	strelka-varscan-mutect	OR10T2,synonymous_variant,p.=,ENST00000334438,NM_001004475.1;	T	ENST00000334438	Transcript	synonymous_variant	798/945	798/945	266/314	S	tcT/tcA		1		-1	OR10T2	HGNC	HGNC:14816	protein_coding	YES	CCDS30895.1	ENSP00000334115	Q8NGX3	A0A126GV74	UPI000003F220	NM_001004475.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF98,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs1256974808	.												T	2	4	12	158398669	158398669	A	T	1	0	0	0	0	0	0	0	1	10996	175	7	4		4	OR10T2	1	158398669	Silent	SNP	A	C3L-00144_TP	105906	158398669	90557753	106	4385											
OR10Z1	0	.	GRCh38	chr1	158606763	158606763	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttctgcctcatgggccTgtactaactgcttccttctg	4	17	7	13	0	4	0	1	0	3	0	5	0	5	0	3	1	4	2	3	1	2	6	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.325T>A	p.Cys109Ser	p.C109S	ENST00000361284	1/1	209	187	22	169	169	0	strelka-varscan-mutect	OR10Z1,missense_variant,p.Cys109Ser,ENST00000361284,NM_001004478.1;SPTA1,downstream_gene_variant,,ENST00000368147,NM_003126.2;SPTA1,downstream_gene_variant,,ENST00000485680,;	A	ENST00000361284	Transcript	missense_variant	325/942	325/942	109/313	C/S	Tgt/Agt		1		1	OR10Z1	HGNC	HGNC:14996	protein_coding	YES	CCDS30901.1	ENSP00000354707	Q8NGY1	A0A126GV63	UPI000004CA23	NM_001004478.1	tolerated(0.16)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		rs1159672050	.												A	3	1	12	158606763	158606763	T	A	1	0	0	0	0	1	0	0	0	10999	1580	55	4		4	OR10Z1	1	158606763	Missense_Mutation	SNP	T	C3L-00144_TP	208094	158606763	90349659	107	4386											
SPTA1	0	.	GRCh38	chr1	158620413	158620413	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttcttccatcttttcacaCcagttgttcaaagctgaagc	9	16	5	11	0	4	1	2	1	2	0	5	1	5	1	2	0	2	3	2	0	2	7			C3L-00144_TP	C3L-00144_NB	C	C																c.6174G>A	p.Trp2058Ter	p.W2058*	ENST00000368147	44/52	201	169	32	178	178	0	strelka-varscan-mutect	SPTA1,stop_gained,p.Trp2058Ter,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000484520,;SPTA1,downstream_gene_variant,,ENST00000461624,;SPTA1,upstream_gene_variant,,ENST00000492934,;SPTA1,upstream_gene_variant,,ENST00000498708,;	T	ENST00000368147	Transcript	stop_gained	6355/7999	6174/7260	2058/2419	W/*	tgG/tgA	COSM4967424	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2			44/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	12	158620413	158620413	C	T	1	0	0	0	0	0	1	0	0	15472	508	18	3		3	SPTA1	1	158620413	Nonsense_Mutation	SNP	C	C3L-00144_TP	13650	158620413	90336009	108	4387											
MNDA	0	.	GRCh38	chr1	158844008	158844008	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaaaaggaataaggtgtcCcaagagcagagtaagccccc	15	4	11	11	0	0	2	0	0	0	2	1	3	1	3	4	2	2	2	4	2	6	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.456C>A	p.=	p.S152S	ENST00000368141	4/7	208	178	30	169	168	1	strelka-varscan-mutect	MNDA,synonymous_variant,p.=,ENST00000368141,NM_002432.1;MNDA,upstream_gene_variant,,ENST00000438394,;MNDA,downstream_gene_variant,,ENST00000491210,;	A	ENST00000368141	Transcript	synonymous_variant	717/1752	456/1224	152/407	S	tcC/tcA		1		1	MNDA	HGNC	HGNC:7183	protein_coding	YES	CCDS1177.1	ENSP00000357123	P41218	Q5VUU6	UPI0000001609	NM_002432.1			4/7		hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF18																	LOW	1	SNV	1			1										PASS		rs1430795105	.												A	2	1	12	158844008	158844008	C	A	1	0	0	0	0	0	0	0	1	9640	610	22	2		2	MNDA	1	158844008	Silent	SNP	C	C3L-00144_TP	223595	158844008	90112414	109	4388											
CADM3	0	.	GRCh38	chr1	159193511	159193511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgtcagtcttctgggagCaagcctgcagcccggctcac	8	8	11	14	1	4	0	2	0	2	0	4	1	4	1	2	2	5	3	2	2	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.573C>G	p.Ser191Arg	p.S191R	ENST00000368124	5/10	190	147	43	147	147	0	strelka-varscan-mutect	CADM3,missense_variant,p.Ser157Arg,ENST00000368125,NM_001127173.1;CADM3,missense_variant,p.Ser191Arg,ENST00000368124,NM_021189.3;CADM3,missense_variant,p.Ser157Arg,ENST00000416746,;CADM3-AS1,downstream_gene_variant,,ENST00000415675,;	G	ENST00000368124	Transcript	missense_variant	730/2546	573/1299	191/432	S/R	agC/agG		1		1	CADM3	HGNC	HGNC:17601	protein_coding	YES	CCDS1182.1	ENSP00000357106	Q8N126		UPI000006E8A2	NM_021189.3	deleterious(0.01)		5/10		Gene3D:2.60.40.10,Pfam_domain:PF08205,PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF57,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	159193511	159193511	C	G	1	0	0	0	0	1	0	0	0	2258	709	25	4		4	CADM3	1	159193511	Missense_Mutation	SNP	C	C3L-00144_TP	349503	159193511	89762911	110	4389											
CADM3	0	.	GRCh38	chr1	159196433	159196433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagctgttgctacactGtgagggtcgcggcaatccag	9	8	13	11	2	0	2	0	1	0	1	2	2	1	2	2	2	3	4	2	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.863G>A	p.Cys288Tyr	p.C288Y	ENST00000368124	7/10	163	124	39	111	111	0	strelka-varscan-mutect	CADM3,missense_variant,p.Cys254Tyr,ENST00000368125,NM_001127173.1;CADM3,missense_variant,p.Cys288Tyr,ENST00000368124,NM_021189.3;CADM3,missense_variant,p.Cys208Tyr,ENST00000416746,;CADM3-AS1,non_coding_transcript_exon_variant,,ENST00000415675,;CADM3-AS1,downstream_gene_variant,,ENST00000609696,;	A	ENST00000368124	Transcript	missense_variant	1020/2546	863/1299	288/432	C/Y	tGt/tAt		1		1	CADM3	HGNC	HGNC:17601	protein_coding	YES	CCDS1182.1	ENSP00000357106	Q8N126		UPI000006E8A2	NM_021189.3	deleterious(0)		7/10		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF57,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	159196433	159196433	G	A	1	0	0	0	0	1	0	0	0	2258	1377	48	3		3	CADM3	1	159196433	Missense_Mutation	SNP	G	C3L-00144_TP	2922	159196433	89759989	111	4390											
ACKR1	0	.	GRCh38	chr1	159205749	159205749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctggcacagctggctGtgggcagtgccctcttcagc	4	10	13	14	0	2	0	1	0	1	0	3	0	3	0	2	3	3	4	2	3	0	1	rs778208530		C3L-00144_TP	C3L-00144_NB	G	G																c.316G>T	p.Val106Leu	p.V106L	ENST00000368121	1/1	183	162	21	162	162	0	strelka-varscan-mutect	ACKR1,missense_variant,p.Val104Leu,ENST00000537147,;ACKR1,missense_variant,p.Val104Leu,ENST00000368122,NM_002036.3;ACKR1,missense_variant,p.Val106Leu,ENST00000368121,NM_001122951.2;ACKR1,missense_variant,p.Val106Leu,ENST00000435307,;CADM3,downstream_gene_variant,,ENST00000368125,NM_001127173.1;CADM3,downstream_gene_variant,,ENST00000368124,NM_021189.3;CADM3-AS1,intron_variant,,ENST00000609696,;CADM3-AS1,upstream_gene_variant,,ENST00000415675,;	T	ENST00000368121	Transcript	missense_variant	491/1240	316/1017	106/338	V/L	Gtg/Ttg	rs778208530	1		1	ACKR1	HGNC	HGNC:4035	protein_coding	YES	CCDS44252.1	ENSP00000357103	Q16570	Q5Y7A1	UPI000013E1B0	NM_001122951.2	tolerated(0.13)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR14181,Prints_domain:PR01559																	MODERATE		SNV				1										PASS		rs778208530	.												T	3	4	12	159205749	159205749	G	T	1	0	0	0	0	1	0	0	0	181	1377	48	2		2	ACKR1	1	159205749	Missense_Mutation	SNP	G	C3L-00144_TP	9316	159205749	89750673	112	4391											
FCRL6	0	.	GRCh38	chr1	159808438	159808438	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagactgccatggttcaaGtccaaggtgagtcaccagct	11	8	11	11	0	2	2	2	1	0	1	3	3	3	2	3	2	2	2	3	2	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.313G>C	p.Val105Leu	p.V105L	ENST00000368106	3/10	196	149	47	157	157	0	strelka-varscan-mutect	FCRL6,missense_variant,p.Val112Leu,ENST00000321935,NM_001284217.1;FCRL6,missense_variant,p.Val105Leu,ENST00000339348,;FCRL6,missense_variant,p.Val105Leu,ENST00000368106,NM_001004310.2;FCRL6,missense_variant,p.Val105Leu,ENST00000392235,;FCRL6,missense_variant,p.Val100Leu,ENST00000536257,;FCRL6,non_coding_transcript_exon_variant,,ENST00000540741,;FCRL6,non_coding_transcript_exon_variant,,ENST00000541729,;	C	ENST00000368106	Transcript	missense_variant	314/1306	313/1305	105/434	V/L	Gtc/Ctc		1		1	FCRL6	HGNC	HGNC:31910	protein_coding	YES	CCDS30912.1	ENSP00000357086	Q6DN72		UPI0000D62020	NM_001004310.2	deleterious(0.04)		3/10		hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF62,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	159808438	159808438	G	C	1	0	0	0	0	1	0	0	0	5661	1029	36	4		4	FCRL6	1	159808438	Missense_Mutation	SNP	G	C3L-00144_TP	602689	159808438	89147984	113	4392											
ATP1A2	0	.	GRCh38	chr1	160124355	160124355	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgcagaggaagtggtggtGggagacctggtggaggtgaa	11	6	20	4	1	0	3	0	1	0	2	0	6	0	5	1	7	1	1	1	7	3	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.555G>T	p.=	p.V185V	ENST00000361216	6/23	257	182	75	205	204	1	strelka-varscan-mutect	ATP1A2,synonymous_variant,p.=,ENST00000361216,NM_000702.3;ATP1A2,synonymous_variant,p.=,ENST00000392233,;ATP1A2,upstream_gene_variant,,ENST00000447527,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000468587,;ATP1A2,downstream_gene_variant,,ENST00000478587,;	T	ENST00000361216	Transcript	synonymous_variant	644/5421	555/3063	185/1020	V	gtG/gtT		1		1	ATP1A2	HGNC	HGNC:800	protein_coding	YES	CCDS1196.1	ENSP00000354490	P50993	A0A0S2Z3W6	UPI0000124FC1	NM_000702.3			6/23		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF259,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01106,Gene3D:2.70.150.10,Pfam_domain:PF00122,Superfamily_domains:0049471																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	160124355	160124355	G	T	1	0	0	0	0	0	0	0	1	1281	1335	47	2		2	ATP1A2	1	160124355	Silent	SNP	G	C3L-00144_TP	315917	160124355	88832067	114	4393											
SLAMF1	0	.	GRCh38	chr1	160610300	160610300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcaggttatcatgatCagctcccagaacaaagtaaa	14	9	9	9	0	3	2	2	1	1	1	4	2	4	2	1	2	3	4	1	2	5	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.412G>T	p.Asp138Tyr	p.D138Y	ENST00000235739	3/3	197	141	56	113	112	1	strelka-varscan-mutect	SLAMF1,missense_variant,p.Asp138Tyr,ENST00000235739,;SLAMF1,3_prime_UTR_variant,,ENST00000302035,NM_003037.3;SLAMF1,downstream_gene_variant,,ENST00000538290,;	A	ENST00000235739	Transcript	missense_variant	762/883	412/435	138/144	D/Y	Gat/Tat		1		-1	SLAMF1	HGNC	HGNC:10903	protein_coding			ENSP00000235739		Q96QJ2	UPI0000070799		deleterious_low_confidence(0)		3/3																			MODERATE		SNV	5			1										PASS		rs1274380874	.												A	3	1	12	160610300	160610300	C	A	1	0	0	0	0	1	0	0	0	14632	826	29	2		2	SLAMF1	1	160610300	Missense_Mutation	SNP	C	C3L-00144_TP	485945	160610300	88346122	115	4394											
ITLN1	0	.	GRCh38	chr1	160881210	160881210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagccagtgtccgtgcGgtacctcagcagggagctgt	8	7	16	10	2	1	0	1	0	0	0	2	3	2	2	3	3	5	3	3	3	2	1	rs146103631		C3L-00144_TP	C3L-00144_NB	G	G																c.508C>G	p.Arg170Gly	p.R170G	ENST00000326245	5/8	115	93	22	108	108	0	strelka-varscan-mutect	ITLN1,missense_variant,p.Arg170Gly,ENST00000326245,NM_017625.2;ITLN1,non_coding_transcript_exon_variant,,ENST00000487531,;ITLN1,non_coding_transcript_exon_variant,,ENST00000464077,;	C	ENST00000326245	Transcript	missense_variant	624/1183	508/942	170/313	R/G	Cgc/Ggc	rs146103631	1		-1	ITLN1	HGNC	HGNC:18259	protein_coding	YES	CCDS1211.1	ENSP00000323587	Q8WWA0		UPI0000032AA3	NM_017625.2	tolerated(0.08)		5/8		hmmpanther:PTHR16146,hmmpanther:PTHR16146:SF38,Superfamily_domains:SSF56496																	MODERATE	1	SNV	1			1										PASS		rs146103631	.												C	3	2	12	160881210	160881210	G	C	1	0	0	0	0	1	0	0	0	7816	1116	39	4		4	ITLN1	1	160881210	Missense_Mutation	SNP	G	C3L-00144_TP	270910	160881210	88075212	116	4395											
DUSP27	0	.	GRCh38	chr1	167128306	167128306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagtccccagaaccacagCgcccaaattgggccaggtcc	12	4	10	15	1	0	2	0	0	0	2	2	2	2	2	6	2	2	0	6	2	3	1	rs147410196		C3L-00144_TP	C3L-00144_NB	C	C																c.3175C>A	p.Arg1059Ser	p.R1059S	ENST00000361200	6/6	290	244	46	224	224	0	strelka-varscan-mutect	DUSP27,missense_variant,p.Arg1059Ser,ENST00000361200,;DUSP27,missense_variant,p.Arg1059Ser,ENST00000443333,NM_001080426.1;DUSP27,missense_variant,p.Arg1059Ser,ENST00000271385,;GPA33,intron_variant,,ENST00000632571,;DUSP27,intron_variant,,ENST00000485151,;	A	ENST00000361200	Transcript	missense_variant	3341/4164	3175/3477	1059/1158	R/S	Cgc/Agc	rs147410196,COSM899054	1		1	DUSP27	HGNC	HGNC:25034	protein_coding	YES	CCDS30932.1	ENSP00000354483	Q5VZP5		UPI000040DFF5		tolerated(0.1)		6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs147410196	.												A	3	1	12	167128306	167128306	C	A	1	0	0	0	0	1	0	0	0	4646	768	27	1		1	DUSP27	1	167128306	Missense_Mutation	SNP	C	C3L-00144_TP	6247096	167128306	81828116	117	4396											
F5	0	.	GRCh38	chr1	169518547	169518547	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttccattttccataccCaggggtgtggaacatcctat	9	14	7	11	0	1	0	0	0	1	0	4	1	4	1	4	3	2	0	4	3	3	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.6210G>A	p.=	p.L2070L	ENST00000367797	23/25	336	249	87	286	286	0	strelka-varscan-mutect	F5,synonymous_variant,p.=,ENST00000367796,;F5,synonymous_variant,p.=,ENST00000367797,NM_000130.4;F5,upstream_gene_variant,,ENST00000495481,;	T	ENST00000367797	Transcript	synonymous_variant	6412/7024	6210/6675	2070/2224	L	ctG/ctA		1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4			23/25		PROSITE_profiles:PS50022,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,Gene3D:2.60.120.260,PIRSF_domain:PIRSF000354,SMART_domains:SM00231,Superfamily_domains:SSF49785																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	169518547	169518547	C	T	1	0	0	0	0	0	0	0	1	5216	581	21	3		3	F5	1	169518547	Silent	SNP	C	C3L-00144_TP	2390241	169518547	79437875	118	4397											
FASLG	0	.	GRCh38	chr1	172665716	172665716	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataagaagggtggccttgtGatcaatgaaactgggctgta	12	11	13	5	0	1	3	1	2	0	1	1	3	1	3	1	3	1	2	1	3	6	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.546G>T	p.=	p.V182V	ENST00000367721	4/4	205	181	24	152	152	0	strelka-varscan-mutect	FASLG,synonymous_variant,p.=,ENST00000367721,NM_000639.2;FASLG,3_prime_UTR_variant,,ENST00000340030,NM_001302746.1;	T	ENST00000367721	Transcript	synonymous_variant	730/1888	546/846	182/281	V	gtG/gtT		1		1	FASLG	HGNC	HGNC:11936	protein_coding	YES	CCDS1304.1	ENSP00000356694	P48023	Q53ZZ1	UPI000000D91A	NM_000639.2			4/4		Gene3D:2.60.120.40,Pfam_domain:PF00229,PROSITE_patterns:PS00251,PROSITE_profiles:PS50049,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF33,SMART_domains:SM00207,Superfamily_domains:SSF49842																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	172665716	172665716	G	T	1	0	0	0	0	0	0	0	1	5542	1277	45	2		2	FASLG	1	172665716	Silent	SNP	G	C3L-00144_TP	3147169	172665716	76290706	119	4398											
CENPL	0	.	GRCh38	chr1	173803336	173803336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggttttctgaaaccaagttCcaattattgctgtgttagac	11	15	8	7	0	1	2	0	1	1	1	2	2	2	2	2	1	2	4	2	1	5	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.728G>C	p.Gly243Ala	p.G243A	ENST00000356198	6/7	221	208	13	178	178	0	strelka-varscan-mutect	CENPL,missense_variant,p.Gly243Ala,ENST00000356198,NM_001127181.2;CENPL,missense_variant,p.Gly197Ala,ENST00000345664,NM_001171182.1;CENPL,missense_variant,p.Gly197Ala,ENST00000367710,NM_033319.3;CENPL,non_coding_transcript_exon_variant,,ENST00000496683,;CENPL,non_coding_transcript_exon_variant,,ENST00000484920,;CENPL,intron_variant,,ENST00000460816,;CENPL,downstream_gene_variant,,ENST00000479159,;	G	ENST00000356198	Transcript	missense_variant	1014/2357	728/1173	243/390	G/A	gGa/gCa		1		-1	CENPL	HGNC	HGNC:17879	protein_coding	YES	CCDS44277.1	ENSP00000348527	Q8N0S6		UPI000006ED4D	NM_001127181.2	tolerated(0.16)		6/7		Pfam_domain:PF13092,hmmpanther:PTHR31740,hmmpanther:PTHR31740:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	173803336	173803336	C	G	1	0	0	0	0	1	0	0	0	2944	855	30	4		4	CENPL	1	173803336	Missense_Mutation	SNP	C	C3L-00144_TP	1137620	173803336	75153086	120	4399											
TNR	0	.	GRCh38	chr1	175403485	175403485	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatccacacacaccccccGgctggagcaacccagcgggc	9	2	10	20	2	0	0	0	0	0	0	1	1	1	1	6	3	3	2	6	3	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.631C>A	p.=	p.R211R	ENST00000367674	4/23	245	184	61	214	214	0	strelka-varscan-mutect	TNR,synonymous_variant,p.=,ENST00000367674,;TNR,synonymous_variant,p.=,ENST00000263525,NM_003285.2;TNR,intron_variant,,ENST00000422274,;	T	ENST00000367674	Transcript	synonymous_variant	1340/12949	631/4077	211/1358	R	Cgg/Agg		1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C				4/23		Gene3D:2.10.25.10,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF254,SMART_domains:SM00181																	LOW	1	SNV	5			1										PASS		rs1282287119	.												T	2	4	12	175403485	175403485	G	T	1	0	0	0	0	0	0	0	1	16811	1115	39	1		1	TNR	1	175403485	Silent	SNP	G	C3L-00144_TP	1600149	175403485	73552937	121	4400											
BRINP2	0	.	GRCh38	chr1	177281066	177281067	+	Frame_Shift_Ins	INS	-	-	T																															gccaaaactggactatcaccINSttggggaataggtggaagac																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.1892dupT	p.Leu631PhefsTer4	p.L631Ffs*4	ENST00000361539	8/8	174	151	23	141	141	0	sindel-varindel-pindel	BRINP2,frameshift_variant,p.Leu631PhefsTer4,ENST00000361539,NM_021165.3;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,;	T	ENST00000361539	Transcript	frameshift_variant	2202-2203/3558	1890-1891/2352	630-631/783	-/X	-/T		1		1	BRINP2	HGNC	HGNC:13746	protein_coding	YES	CCDS1320.1	ENSP00000354481	Q9C0B6		UPI000006DF55	NM_021165.3			8/8		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF8																	HIGH	1	insertion	1	2		1										PASS		.	.												T	7	5	12	177281066	177281066	-	T	1	0	1	1	0	0	0	0	0	1686	668	24	0		0	BRINP2	1	177281066	Frame_Shift_Ins	INS	-	C3L-00144_TP	1877581	177281066	71675356	122	4401											
ABL2	0	.	GRCh38	chr1	179108581	179108581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatcccaagtcgtgcccCaccattcttctctttaccct	7	12	4	18	1	2	0	0	0	2	0	5	0	3	0	6	0	3	0	6	0	2	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2686G>T	p.Gly896Trp	p.G896W	ENST00000502732	12/12	173	148	25	165	165	0	strelka-varscan-mutect	ABL2,missense_variant,p.Gly896Trp,ENST00000502732,NM_007314.3;ABL2,missense_variant,p.Gly778Trp,ENST00000344730,NM_001136000.2;ABL2,missense_variant,p.Gly881Trp,ENST00000512653,NM_005158.4;ABL2,missense_variant,p.Gly875Trp,ENST00000367623,NM_001168236.1;ABL2,missense_variant,p.Gly793Trp,ENST00000511413,NM_001168237.1;ABL2,missense_variant,p.Gly772Trp,ENST00000507173,NM_001168238.1;ABL2,missense_variant,p.Gly757Trp,ENST00000504405,NM_001168239.1;ABL2,downstream_gene_variant,,ENST00000392043,NM_001136001.1;	A	ENST00000502732	Transcript	missense_variant	2890/12144	2686/3549	896/1182	G/W	Ggg/Tgg		1		-1	ABL2	HGNC	HGNC:77	protein_coding	YES	CCDS30947.1	ENSP00000427562	P42684		UPI0000125140	NM_007314.3	deleterious_low_confidence(0)		12/12																			MODERATE	1	SNV	1			1										PASS		rs1341414182	.												A	3	1	12	179108581	179108581	C	A	1	0	0	0	0	1	0	0	0	103	594	21	2		2	ABL2	1	179108581	Missense_Mutation	SNP	C	C3L-00144_TP	1827515	179108581	69847841	123	4402											
CACNA1E	0	.	GRCh38	chr1	181739212	181739212	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttgtggaacatcctggaCtttgtggtggtcgttggcgc	5	13	15	8	2	0	0	0	0	0	0	2	3	1	2	1	5	1	1	1	5	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3678C>A	p.Asp1226Glu	p.D1226E	ENST00000367573	25/48	301	222	79	217	215	2	strelka-varscan-mutect	CACNA1E,missense_variant,p.Asp1207Glu,ENST00000621791,NM_001205294.1;CACNA1E,missense_variant,p.Asp1226Glu,ENST00000621551,;CACNA1E,missense_variant,p.Asp1226Glu,ENST00000367567,;CACNA1E,missense_variant,p.Asp1207Glu,ENST00000358338,;CACNA1E,missense_variant,p.Asp1226Glu,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Asp1226Glu,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Asp1225Glu,ENST00000357570,;CACNA1E,missense_variant,p.Asp1207Glu,ENST00000360108,;	A	ENST00000367573	Transcript	missense_variant	3678/7067	3678/6942	1226/2313	D/E	gaC/gaA		1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1	deleterious(0)		25/48		Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	181739212	181739212	C	A	1	0	0	0	0	1	0	0	0	2230	564	20	2		2	CACNA1E	1	181739212	Missense_Mutation	SNP	C	C3L-00144_TP	2630631	181739212	67217210	124	4403											
PRG4	0	.	GRCh38	chr1	186308130	186308130	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcccccaaggagcttgcacCcaccaccaccaaggggccca	10	3	9	19	0	0	0	0	0	0	0	0	1	0	1	7	3	3	2	7	3	2	1	rs748737775		C3L-00144_TP	C3L-00144_NB	C	C																c.2411C>G	p.Pro804Arg	p.P804R	ENST00000445192	7/13	460	386	74	469	469	0	strelka-varscan-mutect	PRG4,missense_variant,p.Pro804Arg,ENST00000445192,NM_005807.4;PRG4,missense_variant,p.Pro763Arg,ENST00000367483,NM_001127708.2;PRG4,missense_variant,p.Pro761Arg,ENST00000635041,NM_001303232.1;PRG4,missense_variant,p.Pro711Arg,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,missense_variant,p.Pro670Arg,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	G	ENST00000445192	Transcript	missense_variant	2456/5044	2411/4215	804/1404	P/R	cCc/cGc	rs748737775	1		1	PRG4	HGNC	HGNC:9364	protein_coding	YES	CCDS1369.1	ENSP00000399679	Q92954		UPI0004620CBB	NM_005807.4	deleterious(0)		7/13		Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		rs748737775	.												G	3	3	12	186308130	186308130	C	G	1	0	0	0	0	1	0	0	0	12615	623	22	4		4	PRG4	1	186308130	Missense_Mutation	SNP	C	C3L-00144_TP	4568918	186308130	62648292	125	4404											
BRINP3	0	.	GRCh38	chr1	190098410	190098410	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctcattaccattgggacCattggacttgatgcgacttc	8	13	9	11	1	1	1	1	1	1	0	3	4	1	3	2	2	2	1	2	2	1	5			C3L-00144_TP	C3L-00144_NB	C	C																c.1909G>T	p.Gly637Cys	p.G637C	ENST00000367462	8/8	333	294	39	240	240	0	strelka-varscan-mutect	BRINP3,missense_variant,p.Gly637Cys,ENST00000367462,NM_199051.1;	A	ENST00000367462	Transcript	missense_variant	2394/3142	1909/2301	637/766	G/C	Ggt/Tgt	COSM3976736,COSM5323867	1		-1	BRINP3	HGNC	HGNC:22393	protein_coding	YES	CCDS1373.1	ENSP00000356432	Q76B58		UPI00001C1D9A	NM_199051.1	deleterious(0.02)		8/8		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	12	190098410	190098410	C	A	1	0	0	0	0	1	0	0	0	1687	594	21	2		2	BRINP3	1	190098410	Missense_Mutation	SNP	C	C3L-00144_TP	3790280	190098410	58858012	126	4405											
UCHL5	0	.	GRCh38	chr1	193051754	193051754	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaactaaaattatacttacTttaatttttcaaaattctca	17	17	0	7	0	2	0	2	0	1	0	3	0	2	0	0	0	3	0	0	0	9	9	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.140A>T	p.Lys47Met	p.K47M	ENST00000367455	2/11	128	109	19	113	113	0	strelka-varscan-mutect	UCHL5,missense_variant,p.Lys47Met,ENST00000367455,NM_015984.3;UCHL5,missense_variant,p.Lys47Met,ENST00000367454,NM_001199261.1;UCHL5,missense_variant,p.Lys47Met,ENST00000367448,NM_001199262.1;UCHL5,missense_variant,p.Lys47Met,ENST00000367449,NM_001199263.1;UCHL5,missense_variant,p.Lys59Met,ENST00000367450,;UCHL5,missense_variant,p.Lys47Met,ENST00000367451,;UCHL5,missense_variant,p.Lys38Met,ENST00000421683,;UCHL5,downstream_gene_variant,,ENST00000417752,;UCHL5,splice_region_variant,,ENST00000483156,;	A	ENST00000367455	Transcript	missense_variant,splice_region_variant	376/5327	140/990	47/329	K/M	aAg/aTg		1		-1	UCHL5	HGNC	HGNC:19678	protein_coding	YES	CCDS1378.1	ENSP00000356425	Q9Y5K5		UPI000013CF2A	NM_015984.3	deleterious(0.04)		2/11		Gene3D:3.40.532.10,Pfam_domain:PF01088,PIRSF_domain:PIRSF038120,Prints_domain:PR00707,hmmpanther:PTHR10589,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	193051754	193051754	T	A	1	0	0	0	0	1	0	0	0	17446	1623	56	4		4	UCHL5	1	193051754	Missense_Mutation	SNP	T	C3L-00144_TP	2953344	193051754	55904668	127	4406											
KCNT2	0	.	GRCh38	chr1	196340374	196340374	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgctatgtacaggtaatcTggaaggtccatgataaaacg	14	11	10	6	1	1	1	0	1	1	0	2	2	2	2	1	3	3	3	1	3	7	5	rs187537778		C3L-00144_TP	C3L-00144_NB	T	T																c.1750A>T	p.Arg584Ter	p.R584*	ENST00000294725	16/28	199	137	62	205	205	0	strelka-varscan-mutect	KCNT2,stop_gained,p.Arg584Ter,ENST00000367433,NM_001287819.1;KCNT2,stop_gained,p.Arg584Ter,ENST00000294725,NM_198503.3;KCNT2,stop_gained,p.Arg534Ter,ENST00000609185,NM_001287820.1;KCNT2,stop_gained,p.Arg195Ter,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;KCNT2,downstream_gene_variant,,ENST00000466914,;	A	ENST00000294725	Transcript	stop_gained	2666/4409	1750/3408	584/1135	R/*	Aga/Tga	rs187537778	1		-1	KCNT2	HGNC	HGNC:18866	protein_coding	YES	CCDS1384.1	ENSP00000294725	Q6UVM3	A9LNM6	UPI00001E0966	NM_198503.3			16/28		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9																	HIGH	1	SNV	1			1										PASS		rs187537778	.												A	4	1	12	196340374	196340374	T	A	1	0	0	0	0	0	1	0	0	8008	1588	55	4		4	KCNT2	1	196340374	Nonsense_Mutation	SNP	T	C3L-00144_TP	3288620	196340374	52616048	128	4407											
CFHR1	0	.	GRCh38	chr1	196826987	196826987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aacggggctggtccacccctCccaaatgcaggtccactggt	8	7	11	15	1	0	0	0	0	0	0	3	0	3	0	5	5	2	2	5	5	2	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.412C>G	p.Pro138Ala	p.P138A	ENST00000320493	3/6	246	189	57	228	228	0	strelka-varscan-mutect	CFHR1,missense_variant,p.Pro138Ala,ENST00000320493,NM_002113.2;CFHR1,missense_variant,p.Pro138Ala,ENST00000367424,;RP4-608O15.3,intron_variant,,ENST00000367421,;CFHR1,non_coding_transcript_exon_variant,,ENST00000480960,;CFHR1,downstream_gene_variant,,ENST00000468079,;	G	ENST00000320493	Transcript	missense_variant	500/1271	412/993	138/330	P/A	Ccc/Gcc		1		1	CFHR1	HGNC	HGNC:4888	protein_coding	YES	CCDS1386.1	ENSP00000314299	Q03591		UPI000013CCFE	NM_002113.2	deleterious(0.02)		3/6		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF381,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	196826987	196826987	C	G	1	0	0	0	0	1	0	0	0	3042	855	30	4		4	CFHR1	1	196826987	Missense_Mutation	SNP	C	C3L-00144_TP	486613	196826987	52129435	129	4408											
CFHR2	0	.	GRCh38	chr1	196949487	196949487	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttccaaaaataaaccatGgaattctatatgatgaagaa	19	12	5	5	0	1	3	0	2	1	1	2	4	2	4	2	1	1	0	2	1	9	6	rs775004070		C3L-00144_TP	C3L-00144_NB	G	G																c.91G>T	p.Gly31Ter	p.G31*	ENST00000367415	2/5	199	176	23	146	146	0	strelka-varscan-mutect	CFHR2,stop_gained,p.Gly31Ter,ENST00000367415,NM_005666.2;RP4-608O15.3,stop_gained,p.Gly31Ter,ENST00000367421,;CFHR2,stop_gained,p.Gly31Ter,ENST00000476712,;CFHR2,non_coding_transcript_exon_variant,,ENST00000489703,;CFHR2,intron_variant,,ENST00000496448,;CFHR2,intron_variant,,ENST00000473386,;CFHR2,intron_variant,,ENST00000485647,;	T	ENST00000367415	Transcript	stop_gained	191/1059	91/813	31/270	G/*	Gga/Tga	rs775004070,COSM3480908	1		1	CFHR2	HGNC	HGNC:4890	protein_coding	YES	CCDS30959.1	ENSP00000356385	P36980		UPI000012A73B	NM_005666.2			2/5		Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF381,SMART_domains:SM00032,Superfamily_domains:SSF57535											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs775004070	.												T	4	4	12	196949487	196949487	G	T	1	0	0	0	0	0	1	0	0	3043	1349	47	2		2	CFHR2	1	196949487	Nonsense_Mutation	SNP	G	C3L-00144_TP	122500	196949487	52006935	130	4409											
ASPM	0	.	GRCh38	chr1	197125167	197125167	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttgagaggtcccagttCtgtgtgagaagttccatggt	7	15	12	7	0	2	2	0	2	2	2	4	4	4	2	2	2	0	2	2	2	1	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2961G>C	p.Gln987His	p.Q987H	ENST00000367409	11/28	522	393	129	450	450	0	strelka-varscan-mutect	ASPM,missense_variant,p.Gln987His,ENST00000367409,NM_018136.4;ASPM,missense_variant,p.Gln987His,ENST00000294732,NM_001206846.1;ASPM,missense_variant,p.Gln237His,ENST00000367408,;ASPM,intron_variant,,ENST00000612785,;	G	ENST00000367409	Transcript	missense_variant	3218/10887	2961/10434	987/3477	Q/H	caG/caC		1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4	tolerated(0.1)		11/28		Gene3D:1.10.418.10,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF303,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	197125167	197125167	C	G	1	0	0	0	0	1	0	0	0	1203	912	32	4		4	ASPM	1	197125167	Missense_Mutation	SNP	C	C3L-00144_TP	175680	197125167	51831255	131	4410											
CRB1	0	.	GRCh38	chr1	197434803	197434803	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaatatcacatttggtttCagaacaagggatgcaaatgt	15	11	8	7	0	2	1	2	0	0	1	2	2	2	2	1	2	2	2	1	2	5	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2940C>G	p.Phe980Leu	p.F980L	ENST00000367400	9/12	244	184	60	241	241	0	strelka-varscan-mutect	CRB1,missense_variant,p.Phe361Leu,ENST00000367397,;CRB1,missense_variant,p.Phe956Leu,ENST00000535699,NM_001257965.1;CRB1,missense_variant,p.Phe980Leu,ENST00000367400,NM_201253.2;CRB1,missense_variant,p.Phe868Leu,ENST00000367399,NM_001193640.1;CRB1,intron_variant,,ENST00000538660,NM_001257966.1;RP11-75C23.1,downstream_gene_variant,,ENST00000422250,;CRB1,missense_variant,p.Phe980Leu,ENST00000484075,;	G	ENST00000367400	Transcript	missense_variant	3075/4932	2940/4221	980/1406	F/L	ttC/ttG		1		1	CRB1	HGNC	HGNC:2343	protein_coding	YES	CCDS1390.1	ENSP00000356370	P82279		UPI0000073345	NM_201253.2	tolerated(0.31)		9/12		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR24049,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs1290879180	.												G	3	3	12	197434803	197434803	C	G	1	0	0	0	0	1	0	0	0	3648	825	29	4		4	CRB1	1	197434803	Missense_Mutation	SNP	C	C3L-00144_TP	309636	197434803	51521619	132	4411											
PTPRC	0	.	GRCh38	chr1	198750552	198750552	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaaggagaccattggtGacttttggcagatgatcttc	10	12	11	8	0	1	5	0	3	1	2	2	6	1	5	1	3	0	1	1	3	1	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3133G>T	p.Asp1045Tyr	p.D1045Y	ENST00000442510	29/33	532	462	70	388	388	0	strelka-varscan-mutect	PTPRC,missense_variant,p.Asp1045Tyr,ENST00000442510,NM_002838.4;PTPRC,missense_variant,p.Asp884Tyr,ENST00000348564,NM_080921.3;	T	ENST00000442510	Transcript	missense_variant	3274/5164	3133/3921	1045/1306	D/Y	Gac/Tac		1		1	PTPRC	HGNC	HGNC:9666	protein_coding	YES	CCDS1397.2	ENSP00000411355		A0A0A0MT22	UPI000046FDB4	NM_002838.4	deleterious(0)		29/33		Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF002004,PROSITE_profiles:PS50055,SMART_domains:SM00194,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	198750552	198750552	G	T	1	0	0	0	0	1	0	0	0	12951	1290	45	2		2	PTPRC	1	198750552	Missense_Mutation	SNP	G	C3L-00144_TP	1315749	198750552	50205870	133	4412											
PTPRC	0	.	GRCh38	chr1	198752659	198752659	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtggagcagcttcctgcAgaacccaaggaattaatctc	12	9	10	10	0	1	1	0	0	1	1	3	3	2	3	2	2	4	3	2	2	4	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.3396A>G	p.=	p.A1132A	ENST00000442510	31/33	281	196	85	213	213	0	strelka-varscan-mutect	PTPRC,synonymous_variant,p.=,ENST00000442510,NM_002838.4;PTPRC,synonymous_variant,p.=,ENST00000348564,NM_080921.3;	G	ENST00000442510	Transcript	synonymous_variant	3537/5164	3396/3921	1132/1306	A	gcA/gcG		1		1	PTPRC	HGNC	HGNC:9666	protein_coding	YES	CCDS1397.2	ENSP00000411355		A0A0A0MT22	UPI000046FDB4	NM_002838.4			31/33		Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF002004,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF284,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	198752659	198752659	A	G	1	0	0	0	0	0	0	0	1	12951	175	7	5		5	PTPRC	1	198752659	Silent	SNP	A	C3L-00144_TP	2107	198752659	50203763	134	4413											
NR5A2	0	.	GRCh38	chr1	200048271	200048271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaaaagccctcatccgagCcaatggacttaagctagaag	16	6	9	10	1	1	1	1	0	0	1	2	4	2	2	3	1	3	1	3	1	7	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.563C>A	p.Ala188Asp	p.A188D	ENST00000367362	5/8	252	181	71	201	201	0	strelka-varscan-mutect	NR5A2,missense_variant,p.Ala188Asp,ENST00000367362,NM_205860.2;NR5A2,missense_variant,p.Ala116Asp,ENST00000544748,NM_001276464.1;NR5A2,missense_variant,p.Ala142Asp,ENST00000236914,NM_003822.4;NR5A2,missense_variant,p.Ala109Asp,ENST00000367357,;NR5A2,downstream_gene_variant,,ENST00000474307,;	A	ENST00000367362	Transcript	missense_variant	809/5086	563/1626	188/541	A/D	gCc/gAc		1		1	NR5A2	HGNC	HGNC:7984	protein_coding	YES	CCDS1401.1	ENSP00000356331	O00482		UPI0000130482	NM_205860.2	tolerated(0.06)		5/8		hmmpanther:PTHR24086,hmmpanther:PTHR24086:SF18,PIRSF_domain:PIRSF002530																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	200048271	200048271	C	A	1	0	0	0	0	1	0	0	0	10692	739	26	2		2	NR5A2	1	200048271	Missense_Mutation	SNP	C	C3L-00144_TP	1295612	200048271	48908151	135	4414											
ZNF281	0	.	GRCh38	chr1	200408572	200408572	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgatgacccaggttcTgcactagtggctcctttaac	7	14	10	10	0	1	2	0	2	1	0	2	2	2	2	2	3	2	4	2	3	2	5	rs140869522		C3L-00144_TP	C3L-00144_NB	T	T																c.1134A>T	p.=	p.A378A	ENST00000294740	2/2	261	220	41	187	187	0	strelka-varscan-mutect	ZNF281,synonymous_variant,p.=,ENST00000294740,NM_012482.4,NM_001281293.1;ZNF281,synonymous_variant,p.=,ENST00000367353,;ZNF281,synonymous_variant,p.=,ENST00000367352,NM_001281294.1;RP11-469A15.2,intron_variant,,ENST00000637430,;RP11-469A15.2,upstream_gene_variant,,ENST00000634596,;RP11-469A15.2,upstream_gene_variant,,ENST00000635220,;	A	ENST00000294740	Transcript	synonymous_variant	1259/4891	1134/2688	378/895	A	gcA/gcT	rs140869522	1		-1	ZNF281	HGNC	HGNC:13075	protein_coding	YES	CCDS1402.1	ENSP00000294740	Q9Y2X9		UPI000013C345	NM_012482.4,NM_001281293.1			2/2		hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF65																	LOW	1	SNV	1			1										PASS		rs140869522	.												A	2	1	12	200408572	200408572	T	A	1	0	0	0	0	0	0	0	1	18394	1567	55	4		4	ZNF281	1	200408572	Silent	SNP	T	C3L-00144_TP	360301	200408572	48547850	136	4415											
CACNA1S	0	.	GRCh38	chr1	201041542	201041542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccaagggctcgtcctctgGtagcaggcgtctctgtctct	4	11	13	13	2	3	0	0	0	3	0	7	0	4	0	2	4	1	3	2	4	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.5096C>T	p.Thr1699Ile	p.T1699I	ENST00000362061	41/44	660	474	186	478	478	0	strelka-varscan-mutect	CACNA1S,missense_variant,p.Thr1699Ile,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Thr1680Ile,ENST00000367338,;RP11-168O16.2,intron_variant,,ENST00000415359,;RP11-168O16.2,downstream_gene_variant,,ENST00000610411,;	A	ENST00000362061	Transcript	missense_variant	5323/6166	5096/5622	1699/1873	T/I	aCc/aTc		1		-1	CACNA1S	HGNC	HGNC:1397	protein_coding	YES	CCDS1407.1	ENSP00000355192	Q13698		UPI000020471D	NM_000069.2	tolerated_low_confidence(0.4)		41/44		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	201041542	201041542	G	A	1	0	0	0	0	1	0	0	0	2235	1261	44	3		3	CACNA1S	1	201041542	Missense_Mutation	SNP	G	C3L-00144_TP	632970	201041542	47914880	137	4416											
ADIPOR1	0	.	GRCh38	chr1	202941587	202941587	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaggctcagagaagggtgtCatcagtacagccgccttcta	11	8	12	10	1	4	1	3	0	1	1	4	3	4	1	2	2	2	2	2	2	4	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1114G>C	p.Asp372His	p.D372H	ENST00000340990	8/8	122	101	21	87	87	0	strelka-varscan-mutect	ADIPOR1,missense_variant,p.Asp372His,ENST00000340990,NM_015999.5,NM_001290553.1,NM_001290557.1,NM_001290629.1;ADIPOR1,3_prime_UTR_variant,,ENST00000367254,;ADIPOR1,downstream_gene_variant,,ENST00000417068,;ADIPOR1,downstream_gene_variant,,ENST00000426229,;ADIPOR1,non_coding_transcript_exon_variant,,ENST00000495562,;	G	ENST00000340990	Transcript	missense_variant	1413/2177	1114/1128	372/375	D/H	Gac/Cac		1		-1	ADIPOR1	HGNC	HGNC:24040	protein_coding	YES	CCDS1430.1	ENSP00000341785	Q96A54		UPI000003779A	NM_015999.5,NM_001290553.1,NM_001290557.1,NM_001290629.1	deleterious(0)		8/8		hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF40																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	202941587	202941587	C	G	1	0	0	0	0	1	0	0	0	391	826	29	4		4	ADIPOR1	1	202941587	Missense_Mutation	SNP	C	C3L-00144_TP	1900045	202941587	46014835	138	4417											
PPFIA4	0	.	GRCh38	chr1	203048623	203048623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaggaccacaacaagcGgctgtcggacacagtggacc	13	4	13	11	2	0	1	0	1	0	0	1	5	0	4	2	4	2	1	2	4	3	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1277G>T	p.Arg426Leu	p.R426L	ENST00000447715	15/35	354	282	72	233	233	0	strelka-varscan-mutect	PPFIA4,missense_variant,p.Arg422Leu,ENST00000367240,NM_001304331.1,NM_001304332.1;PPFIA4,missense_variant,p.Arg426Leu,ENST00000447715,;PPFIA4,missense_variant,p.Arg168Leu,ENST00000600426,;PPFIA4,5_prime_UTR_variant,,ENST00000295706,;PPFIA4,upstream_gene_variant,,ENST00000272198,;PPFIA4,upstream_gene_variant,,ENST00000599966,;PPFIA4,downstream_gene_variant,,ENST00000601609,;	T	ENST00000447715	Transcript	missense_variant	1718/6349	1277/3558	426/1185	R/L	cGg/cTg		1		1	PPFIA4	HGNC	HGNC:9248	protein_coding	YES		ENSP00000402576	O75335		UPI0001661778		deleterious(0)		15/35		hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	203048623	203048623	G	T	1	0	0	0	0	1	0	0	0	12421	1116	39	1		1	PPFIA4	1	203048623	Missense_Mutation	SNP	G	C3L-00144_TP	107036	203048623	45907799	139	4418											
ATP2B4	0	.	GRCh38	chr1	203698197	203698197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctggagaaacgtaggcaGgtgtttggacacaacgtgat	12	9	14	6	2	1	2	0	1	1	1	1	5	1	3	0	4	2	3	0	4	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.234G>T	p.Gln78His	p.Q78H	ENST00000357681	3/21	375	282	93	308	306	2	strelka-varscan-mutect	ATP2B4,missense_variant,p.Gln78His,ENST00000357681,NM_001684.4;ATP2B4,missense_variant,p.Gln78His,ENST00000367218,NM_001001396.2;ATP2B4,missense_variant,p.Gln78His,ENST00000341360,;	T	ENST00000357681	Transcript	missense_variant	1357/8968	234/3618	78/1205	Q/H	caG/caT		1		1	ATP2B4	HGNC	HGNC:817	protein_coding	YES	CCDS1440.1	ENSP00000350310	P23634	A0A024R968	UPI000002A464	NM_001684.4	tolerated(0.08)		3/21		hmmpanther:PTHR24093:SF276,hmmpanther:PTHR24093,Pfam_domain:PF00690,SMART_domains:SM00831,Superfamily_domains:0049473																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	203698197	203698197	G	T	1	0	0	0	0	1	0	0	0	1295	991	35	2		2	ATP2B4	1	203698197	Missense_Mutation	SNP	G	C3L-00144_TP	649574	203698197	45258225	140	4419											
ATP2B4	0	.	GRCh38	chr1	203711075	203711075	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgaactgacctgtatcgcGgtggtgggcattgaggaccc	8	8	14	11	3	0	2	0	2	0	0	1	4	0	3	3	4	1	2	3	4	2	2	rs145558731		C3L-00144_TP	C3L-00144_NB	G	G																c.1998G>T	p.=	p.A666A	ENST00000357681	12/21	320	268	52	238	238	0	strelka-varscan-mutect	ATP2B4,synonymous_variant,p.=,ENST00000357681,NM_001684.4;ATP2B4,synonymous_variant,p.=,ENST00000367218,NM_001001396.2;ATP2B4,synonymous_variant,p.=,ENST00000341360,;	T	ENST00000357681	Transcript	synonymous_variant	3121/8968	1998/3618	666/1205	A	gcG/gcT	rs145558731	1		1	ATP2B4	HGNC	HGNC:817	protein_coding	YES	CCDS1440.1	ENSP00000350310	P23634	A0A024R968	UPI000002A464	NM_001684.4			12/21		hmmpanther:PTHR24093:SF276,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01517,Pfam_domain:PF00702,Gene3D:1.20.1110.10,Superfamily_domains:SSF56784,Superfamily_domains:SSF81660,Prints_domain:PR00119																	LOW	1	SNV	1			1										PASS		rs145558731	.												T	2	4	12	203711075	203711075	G	T	1	0	0	0	0	0	0	0	1	1295	1103	39	1		1	ATP2B4	1	203711075	Silent	SNP	G	C3L-00144_TP	12878	203711075	45245347	141	4420											
GOLT1A	0	.	GRCh38	chr1	204201683	204201683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaacatgccgaggaggggCcagcgtaggagcacgataac	13	3	16	9	3	0	0	0	0	0	0	0	5	0	3	2	5	5	2	2	5	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.246G>T	p.Trp82Cys	p.W82C	ENST00000308302	3/5	218	157	61	164	164	0	strelka-varscan-mutect	GOLT1A,missense_variant,p.Trp82Cys,ENST00000308302,NM_198447.1;GOLT1A,non_coding_transcript_exon_variant,,ENST00000475517,;	A	ENST00000308302	Transcript	missense_variant	432/883	246/399	82/132	W/C	tgG/tgT		1		-1	GOLT1A	HGNC	HGNC:24766	protein_coding	YES	CCDS1443.1	ENSP00000308535	Q6ZVE7		UPI000005287E	NM_198447.1	deleterious(0)		3/5		Pfam_domain:PF04178,hmmpanther:PTHR21493,hmmpanther:PTHR21493:SF86,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	204201683	204201683	C	A	1	0	0	0	0	1	0	0	0	6464	740	26	2		2	GOLT1A	1	204201683	Missense_Mutation	SNP	C	C3L-00144_TP	490608	204201683	44754739	142	4421											
LRRN2	0	.	GRCh38	chr1	204618005	204618005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctggagggagaggcCgcctcccacccacacccttc	7	4	11	19	1	0	1	0	0	0	1	2	3	1	2	6	4	0	1	6	4	0	1	rs778385692		C3L-00144_TP	C3L-00144_NB	C	C																c.1988G>A	p.Arg663Gln	p.R663Q	ENST00000367175	1/1	108	94	14	90	90	0	strelka-varscan-mutect	LRRN2,missense_variant,p.Arg663Gln,ENST00000367175,;LRRN2,missense_variant,p.Arg663Gln,ENST00000367177,NM_201630.1;LRRN2,missense_variant,p.Arg663Gln,ENST00000367176,NM_006338.2;RP11-430C7.4,downstream_gene_variant,,ENST00000453895,;LRRN2,downstream_gene_variant,,ENST00000496057,;	T	ENST00000367175	Transcript	missense_variant	4201/5036	1988/2142	663/713	R/Q	cGg/cAg	rs778385692	1		-1	LRRN2	HGNC	HGNC:16914	protein_coding	YES	CCDS1448.1	ENSP00000356143	O75325	A0A024R993	UPI000013E8AC		tolerated(0.58)		1/1																			MODERATE		SNV				1										PASS		rs778385692	.												T	3	4	12	204618005	204618005	C	T	1	0	0	0	0	1	0	0	0	8941	652	23	1		1	LRRN2	1	204618005	Missense_Mutation	SNP	C	C3L-00144_TP	416322	204618005	44338417	143	4422											
AVPR1B	0	.	GRCh38	chr1	206115962	206115962	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccacttgccttcatcagggGcattcttgtcccacacggac	7	10	8	16	1	3	0	2	0	1	0	4	1	4	1	3	3	1	1	3	3	0	4	rs782300568		C3L-00144_TP	C3L-00144_NB	G	G																c.929C>G	p.Ala310Gly	p.A310G	ENST00000367126	1/2	69	62	7	51	51	0	strelka-varscan-mutect	AVPR1B,missense_variant,p.Ala310Gly,ENST00000367126,NM_000707.3;RP11-38J22.3,upstream_gene_variant,,ENST00000425896,;AVPR1B,intron_variant,,ENST00000612906,;	C	ENST00000367126	Transcript	missense_variant	1394/2237	929/1275	310/424	A/G	gCc/gGc	rs782300568	1		-1	AVPR1B	HGNC	HGNC:896	protein_coding	YES	CCDS73015.1	ENSP00000356094	P47901		UPI000005043A	NM_000707.3	tolerated(0.17)		1/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00897,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF18,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		rs782300568	.												C	3	2	12	206115962	206115962	G	C	1	0	0	0	0	1	0	0	0	1388	1203	42	4		4	AVPR1B	1	206115962	Missense_Mutation	SNP	G	C3L-00144_TP	1497957	206115962	42840460	144	4423											
KCNH1	0	.	GRCh38	chr1	210683366	210683366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaggagactgagaggatCttctggaagttaatatcctg	11	11	12	7	0	2	3	0	2	2	2	3	7	3	5	2	3	0	1	2	3	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2885G>T	p.Arg962Ile	p.R962I	ENST00000271751	11/11	348	293	55	259	258	1	strelka-varscan-mutect	KCNH1,missense_variant,p.Arg962Ile,ENST00000271751,NM_172362.2;KCNH1,missense_variant,p.Arg935Ile,ENST00000367007,NM_002238.3;RP11-75I2.3,downstream_gene_variant,,ENST00000625140,;	A	ENST00000271751	Transcript	missense_variant	2913/7964	2885/2970	962/989	R/I	aGa/aTa		1		-1	KCNH1	HGNC	HGNC:6250	protein_coding	YES	CCDS1496.1	ENSP00000271751	O95259		UPI000003230D	NM_172362.2	deleterious_low_confidence(0.01)		11/11		hmmpanther:PTHR10217:SF533,hmmpanther:PTHR10217																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	210683366	210683366	C	A	1	0	0	0	0	1	0	0	0	7947	913	32	2		2	KCNH1	1	210683366	Missense_Mutation	SNP	C	C3L-00144_TP	4567404	210683366	38273056	145	4424											
FLVCR1	0	.	GRCh38	chr1	212887989	212887989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatcatcgtgtttgttactgGaggggtgcttgggtaagtat	7	16	14	4	1	1	0	1	0	0	0	2	1	1	1	0	4	2	5	0	4	4	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1295G>T	p.Gly432Val	p.G432V	ENST00000366971	6/10	283	207	76	203	202	1	strelka-varscan-mutect	FLVCR1,missense_variant,p.Gly432Val,ENST00000366971,NM_014053.3;FLVCR1,missense_variant,p.Gly231Val,ENST00000419102,;FLVCR1,intron_variant,,ENST00000483790,;FLVCR1,downstream_gene_variant,,ENST00000474693,;	T	ENST00000366971	Transcript	missense_variant	1493/5939	1295/1668	432/555	G/V	gGa/gTa		1		1	FLVCR1	HGNC	HGNC:24682	protein_coding	YES	CCDS1510.1	ENSP00000355938	Q9Y5Y0		UPI000006D3BB	NM_014053.3	deleterious(0.02)		6/10		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR10924,hmmpanther:PTHR10924:SF2,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	212887989	212887989	G	T	1	0	0	0	0	1	0	0	0	5801	1174	41	2		2	FLVCR1	1	212887989	Missense_Mutation	SNP	G	C3L-00144_TP	2204623	212887989	36068433	146	4425											
KCTD3	0	.	GRCh38	chr1	215608059	215608059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggacgtggacagtaacacGattcagaggaatgatctcta	13	8	11	9	3	2	2	1	1	1	1	3	6	2	5	1	3	1	1	1	3	3	3			C3L-00144_TP	C3L-00144_NB	G	G																c.1352G>T	p.Arg451Leu	p.R451L	ENST00000259154	14/18	281	201	80	156	155	1	strelka-varscan-mutect	KCTD3,missense_variant,p.Arg451Leu,ENST00000259154,NM_001319294.1,NM_016121.3;KCTD3,missense_variant,p.Arg83Leu,ENST00000452413,;	T	ENST00000259154	Transcript	missense_variant	1646/3931	1352/2448	451/815	R/L	cGa/cTa	COSM5623753	1		1	KCTD3	HGNC	HGNC:21305	protein_coding	YES	CCDS1515.1	ENSP00000259154	Q9Y597		UPI0000071A2E	NM_001319294.1,NM_016121.3	deleterious(0)		14/18		hmmpanther:PTHR15859											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	12	215608059	215608059	G	T	1	0	0	0	0	1	0	0	0	8027	1058	37	1		1	KCTD3	1	215608059	Missense_Mutation	SNP	G	C3L-00144_TP	2720070	215608059	33348363	147	4426											
USH2A	0	.	GRCh38	chr1	215799064	215799064	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtacggcattctgccacaGcaggaatcaccaatgccaac	13	6	9	13	1	2	0	1	0	1	0	2	2	2	1	3	2	5	3	3	2	4	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.9801C>A	p.Cys3267Ter	p.C3267*	ENST00000307340	50/72	435	329	106	334	333	1	strelka-varscan-mutect	USH2A,stop_gained,p.Cys3267Ter,ENST00000307340,NM_206933.2;	T	ENST00000307340	Transcript	stop_gained	10188/18883	9801/15609	3267/5202	C/*	tgC/tgA		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			50/72		SMART_domains:SM00060																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	215799064	215799064	G	T	1	0	0	0	0	0	1	0	0	17570	963	34	2		2	USH2A	1	215799064	Nonsense_Mutation	SNP	G	C3L-00144_TP	191005	215799064	33157358	148	4427											
USH2A	0	.	GRCh38	chr1	215846022	215846022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattcaacttcaccttgtaGgtcttgaacagctgtcaaca	12	13	6	10	0	4	1	3	1	1	0	4	1	4	1	1	1	4	2	1	1	5	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.8857C>T	p.=	p.L2953L	ENST00000307340	45/72	379	324	55	287	287	0	strelka-varscan-mutect	USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;	A	ENST00000307340	Transcript	synonymous_variant	9244/18883	8857/15609	2953/5202	L	Cta/Tta		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			45/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	215846022	215846022	G	A	1	0	0	0	0	0	0	0	1	17570	991	35	3		3	USH2A	1	215846022	Silent	SNP	G	C3L-00144_TP	46958	215846022	33110400	149	4428											
USH2A	0	.	GRCh38	chr1	215888544	215888544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctccatgaagagtgctcAtcagtacccgatattcatat	11	12	7	11	1	3	2	3	1	0	1	4	3	4	2	3	0	3	2	3	0	4	4	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.8105T>C	p.Met2702Thr	p.M2702T	ENST00000307340	41/72	343	305	38	301	301	0	strelka-varscan-mutect	USH2A,missense_variant,p.Met2702Thr,ENST00000307340,NM_206933.2;RP5-1111A8.3,intron_variant,,ENST00000414995,;	G	ENST00000307340	Transcript	missense_variant	8492/18883	8105/15609	2702/5202	M/T	aTg/aCg		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0.04)		41/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs1475041474	.												G	3	3	12	215888544	215888544	A	G	1	0	0	0	0	1	0	0	0	17570	217	8	5		5	USH2A	1	215888544	Missense_Mutation	SNP	A	C3L-00144_TP	42522	215888544	33067878	150	4429											
USH2A	0	.	GRCh38	chr1	216246786	216246786	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgttacccctaatttgcAaggacattgtcctgttgatt	9	15	7	10	0	0	1	0	1	0	0	1	2	1	2	4	1	2	3	4	1	3	6	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2608T>G	p.Cys870Gly	p.C870G	ENST00000307340	13/72	593	509	84	422	422	0	strelka-varscan-mutect	USH2A,missense_variant,p.Cys870Gly,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Cys870Gly,ENST00000366942,NM_007123.5;	C	ENST00000307340	Transcript	missense_variant	2995/18883	2608/15609	870/5202	C/G	Tgc/Ggc		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		13/72		Gene3D:2.10.25.10,Pfam_domain:PF00053,Prints_domain:PR00011,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00180,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	216246786	216246786	A	C	1	0	0	0	0	1	0	0	0	17570	130	5	5		5	USH2A	1	216246786	Missense_Mutation	SNP	A	C3L-00144_TP	358242	216246786	32709636	151	4430											
SPATA17	0	.	GRCh38	chr1	217774517	217774517	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtctgaaattctaccacctAttaatagaaagcaatgtcag	15	11	7	8	0	3	2	1	1	2	1	3	2	3	2	2	1	2	1	2	1	7	5	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.703A>T	p.Ile235Phe	p.I235F	ENST00000366933	7/11	274	208	66	198	198	0	strelka-varscan-mutect	SPATA17,missense_variant,p.Ile235Phe,ENST00000366933,NM_138796.3;SPATA17,non_coding_transcript_exon_variant,,ENST00000492747,;SPATA17,downstream_gene_variant,,ENST00000470448,;	T	ENST00000366933	Transcript	missense_variant	758/5818	703/1086	235/361	I/F	Att/Ttt		1		1	SPATA17	HGNC	HGNC:25184	protein_coding	YES	CCDS1519.1	ENSP00000355900	Q96L03		UPI00000717C2	NM_138796.3	deleterious(0)		7/11		hmmpanther:PTHR22706																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	217774517	217774517	A	T	1	0	0	0	0	1	0	0	0	15332	449	16	4		4	SPATA17	1	217774517	Missense_Mutation	SNP	A	C3L-00144_TP	1527731	217774517	31181905	152	4431											
ZC3H11B	0	.	GRCh38	chr1	219610366	219610366	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcctgctgtttctgcatgCgcgtctctctcatgatctca	4	16	7	14	2	5	1	2	1	5	0	9	1	5	1	1	0	3	3	1	0	0	1	rs550141293		C3L-00144_TP	C3L-00144_NB	C	C																c.1697G>C	p.Arg566Pro	p.R566P	ENST00000636126	2/2	59	49	10	66	66	0	varscan-mutect	ZC3H11B,missense_variant,p.Arg566Pro,ENST00000636126,;ZC3H11B,missense_variant,p.Arg566Pro,ENST00000367211,;	G	ENST00000636126	Transcript	missense_variant	2413/4432	1697/2418	566/805	R/P	cGc/cCc	rs550141293	1		-1	ZC3H11B	HGNC	HGNC:25659	protein_coding	YES		ENSP00000489836			UPI000013E86C		deleterious(0.03)		2/2		hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2																	MODERATE	1	SNV				1										PASS		rs550141293	.												G	3	3	12	219610366	219610366	C	G	1	0	0	0	0	1	0	0	0	18135	768	27	4		4	ZC3H11B	1	219610366	Missense_Mutation	SNP	C	C3L-00144_TP	1835849	219610366	29346056	153	4432											
ZC3H11B	0	.	GRCh38	chr1	219611441	219611441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattccaaaatgcaaacattCaccttgctttatattgactg	13	15	4	9	0	1	1	1	1	0	0	2	1	2	1	2	0	3	2	2	0	6	8	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.622G>A	p.Glu208Lys	p.E208K	ENST00000636126	2/2	37	28	9	33	33	0	strelka-varscan-mutect	ZC3H11B,missense_variant,p.Glu208Lys,ENST00000636126,;ZC3H11B,missense_variant,p.Glu208Lys,ENST00000367211,;	T	ENST00000636126	Transcript	missense_variant	1338/4432	622/2418	208/805	E/K	Gaa/Aaa		1		-1	ZC3H11B	HGNC	HGNC:25659	protein_coding	YES		ENSP00000489836			UPI000013E86C		tolerated(0.19)		2/2		hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2																	MODERATE	1	SNV				1										PASS		rs1297854094	.												T	3	4	12	219611441	219611441	C	T	1	0	0	0	0	1	0	0	0	18135	835	29	3		3	ZC3H11B	1	219611441	Missense_Mutation	SNP	C	C3L-00144_TP	1075	219611441	29344981	154	4433											
SLC30A10	0	.	GRCh38	chr1	219918285	219918285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgttgactccttttgggaCcatctgtagcagaatggcag	9	12	11	9	0	1	2	0	1	1	1	2	3	2	3	2	2	1	4	2	2	2	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.928G>A	p.Val310Ile	p.V310I	ENST00000366926	3/4	112	74	38	76	76	0	strelka-varscan-mutect	SLC30A10,missense_variant,p.Val310Ile,ENST00000366926,NM_018713.2;SLC30A10,non_coding_transcript_exon_variant,,ENST00000484079,;SLC30A10,non_coding_transcript_exon_variant,,ENST00000484239,;SLC30A10,3_prime_UTR_variant,,ENST00000356609,;	T	ENST00000366926	Transcript	missense_variant	1090/1915	928/1458	310/485	V/I	Gtc/Atc		1		-1	SLC30A10	HGNC	HGNC:25355	protein_coding	YES	CCDS31026.1	ENSP00000355893	Q6XR72		UPI000040E993	NM_018713.2	deleterious(0.03)		3/4		hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF14,TIGRFAM_domain:TIGR01297																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	219918285	219918285	C	T	1	0	0	0	0	1	0	0	0	14824	507	18	3		3	SLC30A10	1	219918285	Missense_Mutation	SNP	C	C3L-00144_TP	306844	219918285	29038137	155	4434											
MIA3	0	.	GRCh38	chr1	222628592	222628592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacaaataatgacaaagaaGtaaacgcagaacatcacatt	23	6	5	7	1	1	3	1	1	0	2	1	3	1	3	0	0	3	2	0	0	8	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1372G>T	p.Val458Leu	p.V458L	ENST00000344922	4/28	179	139	40	154	154	0	strelka-varscan-mutect	MIA3,missense_variant,p.Val458Leu,ENST00000344922,NM_001324064.1,NM_198551.3;MIA3,missense_variant,p.Val41Leu,ENST00000354906,;MIA3,missense_variant,p.Val458Leu,ENST00000344507,;MIA3,non_coding_transcript_exon_variant,,ENST00000470521,;	T	ENST00000344922	Transcript	missense_variant	1397/8142	1372/5724	458/1907	V/L	Gta/Tta		1		1	MIA3	HGNC	HGNC:24008	protein_coding	YES	CCDS41470.1	ENSP00000340900	Q5JRA6		UPI00001D75B3	NM_001324064.1,NM_198551.3	tolerated(0.31)		4/28		hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF37																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	222628592	222628592	G	T	1	0	0	0	0	1	0	0	0	9522	1029	36	2		2	MIA3	1	222628592	Missense_Mutation	SNP	G	C3L-00144_TP	2710307	222628592	26327830	156	4435											
CAPN8	0	.	GRCh38	chr1	223619353	223619353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtggccgttgaacaggaCcaggttccatttgtgcacct	8	10	11	12	1	0	1	0	1	0	0	1	2	1	2	5	3	2	3	5	3	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1075G>A	p.Val359Ile	p.V359I	ENST00000366872	9/21	456	403	53	272	272	0	strelka-varscan-mutect	CAPN8,missense_variant,p.Val359Ile,ENST00000366873,;CAPN8,missense_variant,p.Val359Ile,ENST00000366872,;CAPN8,missense_variant,p.Val359Ile,ENST00000419193,NM_001143962.1;CAPN8,downstream_gene_variant,,ENST00000465098,;CAPN8,downstream_gene_variant,,ENST00000467384,;	T	ENST00000366872	Transcript	missense_variant	1163/2427	1075/2112	359/703	V/I	Gtc/Atc		1		-1	CAPN8	HGNC	HGNC:1485	protein_coding	YES	CCDS73038.1	ENSP00000355837	A6NHC0		UPI0000157E1A		tolerated(0.12)		9/21		Gene3D:2.60.120.380,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF52,SMART_domains:SM00720,Superfamily_domains:SSF49758																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	223619353	223619353	C	T	1	0	0	0	0	1	0	0	0	2326	507	18	3		3	CAPN8	1	223619353	Missense_Mutation	SNP	C	C3L-00144_TP	990761	223619353	25337069	157	4436											
DNAH14	0	.	GRCh38	chr1	225265355	225265355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaaagatactcttggagcaCcaaaaaacaaccgggtaaaa	19	6	7	9	1	1	1	0	0	1	1	1	2	1	2	2	2	4	2	2	2	9	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.7378C>T	p.Pro2460Ser	p.P2460S	ENST00000430092	48/84	215	188	27	198	196	2	strelka-varscan-mutect	DNAH14,missense_variant,p.Pro2460Ser,ENST00000430092,NM_001373.1;DNAH14,missense_variant,p.Pro2460Ser,ENST00000439375,;DNAH14,missense_variant,p.Pro1920Ser,ENST00000445597,;DNAH14,missense_variant,p.Pro232Ser,ENST00000450490,;DNAH14,missense_variant,p.Pro227Ser,ENST00000327794,;	T	ENST00000430092	Transcript	missense_variant	7593/13763	7378/13548	2460/4515	P/S	Cca/Tca		1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000414402	Q0VDD8		UPI000192C36D	NM_001373.1	deleterious(0)		48/84		hmmpanther:PTHR10676:SF254,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF12775,SMART_domains:SM00382																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	12	225265355	225265355	C	T	1	0	0	0	0	1	0	0	0	4415	507	18	3		3	DNAH14	1	225265355	Missense_Mutation	SNP	C	C3L-00144_TP	1646002	225265355	23691067	158	4437											
DNAH14	0	.	GRCh38	chr1	225354172	225354172	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggatttgtctgcctataaAgaacatactttctgcctgct	9	15	8	9	0	2	1	0	0	2	1	2	2	2	2	2	1	5	1	2	1	5	5	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.8846-2A>G		p.X2949_splice	ENST00000445597		201	148	53	134	134	0	strelka-varscan-mutect	DNAH14,splice_acceptor_variant,,ENST00000445597,;DNAH14,intron_variant,,ENST00000430092,NM_001373.1;DNAH14,intron_variant,,ENST00000439375,;DNAH14,intron_variant,,ENST00000327794,;	G	ENST00000445597	Transcript	splice_acceptor_variant	-/10524	8846/10524	2949/3507				1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000409472	Q0VDD8		UPI0001642868					50/60																		HIGH		SNV	5			1										PASS		.	.												G	5	3	12	225354172	225354172	A	G	1	0	0	0	0	0	0	1	0	4415	86	3	5		5	DNAH14	1	225354172	Splice_Site	SNP	A	C3L-00144_TP	88817	225354172	23602250	159	4438											
PARP1	0	.	GRCh38	chr1	226386374	226386374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgaagatgagtagctcCttcaggtcattagttgaaca	11	14	10	6	0	2	4	2	3	0	1	3	4	3	4	1	1	2	4	1	1	4	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.786G>T	p.Lys262Asn	p.K262N	ENST00000366794	6/23	564	499	65	425	422	3	strelka-varscan-mutect	PARP1,missense_variant,p.Lys262Asn,ENST00000366794,NM_001618.3;PARP1,downstream_gene_variant,,ENST00000469663,;	A	ENST00000366794	Transcript	missense_variant	930/3958	786/3045	262/1014	K/N	aaG/aaT		1		-1	PARP1	HGNC	HGNC:270	protein_coding	YES	CCDS1554.1	ENSP00000355759	P09874	A0A024R3T8	UPI000013D92D	NM_001618.3	deleterious(0.04)		6/23		hmmpanther:PTHR10459,hmmpanther:PTHR10459:SF62,PIRSF_domain:PIRSF000489																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	226386374	226386374	C	A	1	0	0	0	0	1	0	0	0	11534	680	24	2		2	PARP1	1	226386374	Missense_Mutation	SNP	C	C3L-00144_TP	1032202	226386374	22570048	160	4439											
PSEN2	0	.	GRCh38	chr1	226891838	226891838	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggaggagctggaggaagagGaggaaagtaaggtgcccatg	13	4	20	4	0	0	1	0	0	0	1	0	7	0	7	1	7	2	2	1	7	3	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1066G>T	p.Glu356Ter	p.E356*	ENST00000366783	11/13	516	451	65	414	413	1	strelka-varscan-mutect	PSEN2,stop_gained,p.Glu389Ter,ENST00000366782,;PSEN2,stop_gained,p.Glu356Ter,ENST00000366783,NM_000447.2;PSEN2,stop_gained,p.Glu389Ter,ENST00000626989,;PSEN2,stop_gained,p.Glu355Ter,ENST00000422240,NM_012486.2;PSEN2,stop_gained,p.Glu212Ter,ENST00000472139,;PSEN2,downstream_gene_variant,,ENST00000460775,;PSEN2,non_coding_transcript_exon_variant,,ENST00000471728,;PSEN2,downstream_gene_variant,,ENST00000487450,;	T	ENST00000366783	Transcript	stop_gained	1502/2306	1066/1347	356/448	E/*	Gag/Tag		1		1	PSEN2	HGNC	HGNC:9509	protein_coding	YES	CCDS1556.1	ENSP00000355747	P49810		UPI0000049EDA	NM_000447.2			11/13		Low_complexity_(Seg):seg,hmmpanther:PTHR10202:SF20,hmmpanther:PTHR10202,Pfam_domain:PF01080,SMART_domains:SM00730																	HIGH	1	SNV	5			1										PASS		rs1304206650	.												T	4	4	12	226891838	226891838	G	T	1	0	0	0	0	0	1	0	0	12802	1175	41	2		2	PSEN2	1	226891838	Nonsense_Mutation	SNP	G	C3L-00144_TP	505464	226891838	22064584	161	4440											
SNAP47	0	.	GRCh38	chr1	227780609	227780609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccctggatggcgttgcagCagctgtggacagggcaacct	8	7	15	11	1	0	0	0	0	0	0	0	2	0	2	2	4	5	5	2	4	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1331C>T	p.Ala444Val	p.A444V	ENST00000315781	5/5	374	339	35	274	273	1	strelka-varscan-mutect	SNAP47,missense_variant,p.Ala444Val,ENST00000315781,NM_053052.3;SNAP47,missense_variant,p.Ala444Val,ENST00000366759,;SNAP47,missense_variant,p.Ala399Val,ENST00000617596,;SNAP47,missense_variant,p.Ala202Val,ENST00000366760,;SNAP47,downstream_gene_variant,,ENST00000426344,;SNAP47,downstream_gene_variant,,ENST00000418653,;	T	ENST00000315781	Transcript	missense_variant	1745/2367	1331/1395	444/464	A/V	gCa/gTa		1		1	SNAP47	HGNC	HGNC:30669	protein_coding	YES	CCDS1562.1	ENSP00000314157	Q5SQN1		UPI000036662E	NM_053052.3	tolerated(0.13)		5/5		Gene3D:1.20.5.110,PROSITE_profiles:PS50192,hmmpanther:PTHR19305,hmmpanther:PTHR19305:SF1,Superfamily_domains:SSF58038																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	227780609	227780609	C	T	1	0	0	0	0	1	0	0	0	15153	710	25	3		3	SNAP47	1	227780609	Missense_Mutation	SNP	C	C3L-00144_TP	888771	227780609	21175813	162	4441											
WNT9A	0	.	GRCh38	chr1	227921869	227921869	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcccaccttgagtgcCgtctcatacttgtgcttcag	5	13	10	13	1	2	1	2	1	1	0	3	1	2	1	3	0	5	2	3	0	1	4	rs187855245		C3L-00144_TP	C3L-00144_NB	C	C																c.747G>T	p.=	p.T249T	ENST00000272164	4/4	310	264	46	243	243	0	strelka-varscan-mutect	WNT9A,synonymous_variant,p.=,ENST00000272164,NM_003395.2;	A	ENST00000272164	Transcript	synonymous_variant	758/3971	747/1098	249/365	T	acG/acT	rs187855245	1		-1	WNT9A	HGNC	HGNC:12778	protein_coding	YES	CCDS31045.1	ENSP00000272164	O14904	D9ZGG3	UPI000005104B	NM_003395.2			4/4		Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF75,SMART_domains:SM00097																	LOW	1	SNV	1			1										PASS		rs187855245	.												A	2	1	12	227921869	227921869	C	A	1	0	0	0	0	0	0	0	1	17954	639	23	1		1	WNT9A	1	227921869	Silent	SNP	C	C3L-00144_TP	141260	227921869	21034553	163	4442											
C1orf35	0	.	GRCh38	chr1	228102096	228102096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacctgctttccgtctgatCctccgcccgcggcttcctcc	2	12	7	20	4	2	1	1	1	1	0	7	1	7	1	7	1	1	2	7	1	0	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.517G>T	p.Asp173Tyr	p.D173Y	ENST00000272139	6/8	51	41	10	37	37	0	strelka-varscan-mutect	C1orf35,missense_variant,p.Asp173Tyr,ENST00000272139,NM_024319.2;ARF1,downstream_gene_variant,,ENST00000541182,NM_001024227.1,NM_001024228.1;ARF1,downstream_gene_variant,,ENST00000540651,NM_001024226.1;ARF1,downstream_gene_variant,,ENST00000272102,NM_001658.3;MRPL55,downstream_gene_variant,,ENST00000366731,;MRPL55,downstream_gene_variant,,ENST00000366735,;MRPL55,downstream_gene_variant,,ENST00000366734,;MRPL55,downstream_gene_variant,,ENST00000430433,NM_181462.2;MRPL55,downstream_gene_variant,,ENST00000366733,;MRPL55,downstream_gene_variant,,ENST00000336520,NM_181463.2;MRPL55,downstream_gene_variant,,ENST00000366744,;MRPL55,downstream_gene_variant,,ENST00000336300,NM_181456.2;MRPL55,downstream_gene_variant,,ENST00000366732,;MRPL55,downstream_gene_variant,,ENST00000366738,;MRPL55,downstream_gene_variant,,ENST00000459783,;MRPL55,downstream_gene_variant,,ENST00000391867,NM_181454.2,NM_181455.2;MRPL55,downstream_gene_variant,,ENST00000348259,NM_181441.2;MRPL55,downstream_gene_variant,,ENST00000366736,;MRPL55,downstream_gene_variant,,ENST00000366740,;MRPL55,downstream_gene_variant,,ENST00000366739,;MRPL55,downstream_gene_variant,,ENST00000295008,NM_181464.2;MRPL55,downstream_gene_variant,,ENST00000366742,;MRPL55,downstream_gene_variant,,ENST00000366741,;MRPL55,downstream_gene_variant,,ENST00000366747,NM_001321284.1;MRPL55,downstream_gene_variant,,ENST00000366746,NM_181465.2;ARF1,downstream_gene_variant,,ENST00000584469,;C1orf35,non_coding_transcript_exon_variant,,ENST00000472617,;C1orf35,non_coding_transcript_exon_variant,,ENST00000469781,;C1orf35,non_coding_transcript_exon_variant,,ENST00000485896,;C1orf35,non_coding_transcript_exon_variant,,ENST00000465199,;C1orf35,non_coding_transcript_exon_variant,,ENST00000492757,;ARF1,downstream_gene_variant,,ENST00000478424,;ARF1,downstream_gene_variant,,ENST00000478336,;ARF1,downstream_gene_variant,,ENST00000490705,;C1orf35,downstream_gene_variant,,ENST00000491293,;ARF1,downstream_gene_variant,,ENST00000470558,;ARF1,downstream_gene_variant,,ENST00000477451,;ARF1,downstream_gene_variant,,ENST00000470670,;ARF1,downstream_gene_variant,,ENST00000469235,;ARF1,downstream_gene_variant,,ENST00000497165,;ARF1,downstream_gene_variant,,ENST00000482962,;ARF1,downstream_gene_variant,,ENST00000473949,;ARF1,downstream_gene_variant,,ENST00000473546,;MRPL55,downstream_gene_variant,,ENST00000465268,;	A	ENST00000272139	Transcript	missense_variant	752/1427	517/792	173/263	D/Y	Gat/Tat		1		-1	C1orf35	HGNC	HGNC:19032	protein_coding	YES	CCDS1566.1	ENSP00000272139	Q9BU76		UPI000006F89B	NM_024319.2	deleterious(0)		6/8		hmmpanther:PTHR14580,hmmpanther:PTHR14580:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	228102096	228102096	C	A	1	0	0	0	0	1	0	0	0	1988	855	30	2		2	C1orf35	1	228102096	Missense_Mutation	SNP	C	C3L-00144_TP	180227	228102096	20854326	164	4443											
IBA57	0	.	GRCh38	chr1	228175297	228175297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccctgtccggttcttGgacccccttcccaccagtgg	3	12	8	18	1	2	0	0	0	2	0	5	1	5	1	6	3	0	1	6	3	0	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.855G>T	p.Leu285Phe	p.L285F	ENST00000366711	3/3	290	249	41	186	186	0	strelka-varscan-mutect	IBA57,missense_variant,p.Leu285Phe,ENST00000366711,NM_001310327.1,NM_001010867.2;IBA57,non_coding_transcript_exon_variant,,ENST00000484749,;IBA57,non_coding_transcript_exon_variant,,ENST00000546123,;	T	ENST00000366711	Transcript	missense_variant	857/7817	855/1071	285/356	L/F	ttG/ttT		1		1	IBA57	HGNC	HGNC:27302	protein_coding	YES	CCDS31046.1	ENSP00000355672	Q5T440		UPI0000160A21	NM_001310327.1,NM_001010867.2	tolerated(0.07)		3/3		hmmpanther:PTHR22602,hmmpanther:PTHR22602:SF0,Pfam_domain:PF08669																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	228175297	228175297	G	T	1	0	0	0	0	1	0	0	0	7374	1339	47	2		2	IBA57	1	228175297	Missense_Mutation	SNP	G	C3L-00144_TP	73201	228175297	20781125	165	4444											
OBSCN	0	.	GRCh38	chr1	228250109	228250109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggaagaagctgagctccaGctcgaaagttcgaatggagg	12	6	15	8	3	0	2	0	1	0	1	3	6	1	4	1	3	3	4	1	3	4	1			C3L-00144_TP	C3L-00144_NB	G	G																c.4454G>T	p.Ser1485Ile	p.S1485I	ENST00000570156	15/116	541	484	57	419	419	0	strelka-varscan-mutect	OBSCN,missense_variant,p.Ser1485Ile,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Ser1485Ile,ENST00000366707,;OBSCN,missense_variant,p.Ser1393Ile,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Ser1393Ile,ENST00000636875,;OBSCN,missense_variant,p.Ser1393Ile,ENST00000284548,NM_052843.3;	T	ENST00000570156	Transcript	missense_variant	4528/26925	4454/26772	1485/8923	S/I	aGc/aTc	COSM1146170,COSM1146171,COSM679272,COSM679273	1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	deleterious(0)		15/116		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		.	.												T	3	4	12	228250109	228250109	G	T	1	0	0	0	0	1	0	0	0	10889	971	34	2		2	OBSCN	1	228250109	Missense_Mutation	SNP	G	C3L-00144_TP	74812	228250109	20706313	166	4445											
OBSCN	0	.	GRCh38	chr1	228275990	228275990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttctttggctgcgagacgCcggatgacaagacacaggcc	9	7	13	12	3	1	3	0	1	1	2	1	5	1	4	2	3	1	2	2	3	1	2	rs772291809		C3L-00144_TP	C3L-00144_NB	C	C																c.7309C>A	p.Pro2437Thr	p.P2437T	ENST00000570156	25/116	147	103	44	131	131	0	strelka-varscan-mutect	OBSCN,missense_variant,p.Pro2437Thr,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Pro2437Thr,ENST00000366707,;OBSCN,missense_variant,p.Pro2062Thr,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Pro2062Thr,ENST00000636875,;OBSCN,missense_variant,p.Pro2062Thr,ENST00000284548,NM_052843.3;OBSCN,upstream_gene_variant,,ENST00000483539,;OBSCN,upstream_gene_variant,,ENST00000366706,;RP5-1139B12.3,non_coding_transcript_exon_variant,,ENST00000602529,;RP5-1139B12.3,non_coding_transcript_exon_variant,,ENST00000602947,;RP5-1139B12.2,upstream_gene_variant,,ENST00000602517,;OBSCN,upstream_gene_variant,,ENST00000366704,;	A	ENST00000570156	Transcript	missense_variant	7383/26925	7309/26772	2437/8923	P/T	Ccg/Acg	rs772291809	1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	tolerated(0.37)		25/116		PROSITE_profiles:PS50835,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs772291809	.												A	3	1	12	228275990	228275990	C	A	1	0	0	0	0	1	0	0	0	10889	739	26	2		2	OBSCN	1	228275990	Missense_Mutation	SNP	C	C3L-00144_TP	25881	228275990	20680432	167	4446											
OBSCN	0	.	GRCh38	chr1	228294180	228294180	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagttcatagagggtctGaggaatgaagaggccacaga	14	7	13	7	0	2	5	1	2	1	3	3	6	3	6	2	3	0	1	2	3	4	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.12447G>T	p.=	p.L4149L	ENST00000570156	47/116	451	387	64	329	329	0	strelka-varscan-mutect	OBSCN,synonymous_variant,p.=,ENST00000570156,NM_001271223.2;OBSCN,synonymous_variant,p.=,ENST00000366707,;OBSCN,synonymous_variant,p.=,ENST00000422127,NM_001098623.2;OBSCN,synonymous_variant,p.=,ENST00000636875,;OBSCN,synonymous_variant,p.=,ENST00000284548,NM_052843.3;OBSCN,synonymous_variant,p.=,ENST00000483539,;RP5-1139B12.4,downstream_gene_variant,,ENST00000602778,;OBSCN,upstream_gene_variant,,ENST00000494839,;	T	ENST00000570156	Transcript	synonymous_variant	12521/26925	12447/26772	4149/8923	L	ctG/ctT		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2			47/116		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF708,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW		SNV	5			1										PASS		.	.												T	2	4	12	228294180	228294180	G	T	1	0	0	0	0	0	0	0	1	10889	1277	45	2		2	OBSCN	1	228294180	Silent	SNP	G	C3L-00144_TP	18190	228294180	20662242	168	4447											
OBSCN	0	.	GRCh38	chr1	228294922	228294922	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagaggtggggacagataCagcctgaggcaggatgggac	11	5	17	8	0	1	3	1	1	0	2	1	6	1	6	1	6	2	1	1	6	1	1	rs755214451		C3L-00144_TP	C3L-00144_NB	C	C																c.12825C>T	p.=	p.Y4275Y	ENST00000570156	48/116	458	335	123	395	395	0	strelka-varscan-mutect	OBSCN,synonymous_variant,p.=,ENST00000570156,NM_001271223.2;OBSCN,synonymous_variant,p.=,ENST00000366707,;OBSCN,synonymous_variant,p.=,ENST00000422127,NM_001098623.2;OBSCN,synonymous_variant,p.=,ENST00000636875,;OBSCN,synonymous_variant,p.=,ENST00000284548,NM_052843.3;OBSCN,synonymous_variant,p.=,ENST00000483539,;RP5-1139B12.4,downstream_gene_variant,,ENST00000602778,;OBSCN,upstream_gene_variant,,ENST00000602685,;OBSCN,non_coding_transcript_exon_variant,,ENST00000494839,;	T	ENST00000570156	Transcript	synonymous_variant	12899/26925	12825/26772	4275/8923	Y	taC/taT	rs755214451,COSM1320414,COSM1320415,COSM1320416,COSM1320417	1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2			48/116		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF708,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726											0,1,1,1,1						LOW		SNV	5		0,1,1,1,1	1										PASS		rs755214451	.												T	2	4	12	228294922	228294922	C	T	1	0	0	0	0	0	0	0	1	10889	489	17	3		3	OBSCN	1	228294922	Silent	SNP	C	C3L-00144_TP	742	228294922	20661500	169	4448											
OBSCN	0	.	GRCh38	chr1	228368833	228368833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttcagccagtacggctccCctgagttcgtctcccccgag	6	9	10	16	3	2	1	1	1	1	0	5	2	3	1	5	1	2	4	5	1	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.22750C>A	p.Pro7584Thr	p.P7584T	ENST00000570156	100/116	242	220	22	174	174	0	strelka-varscan-mutect	OBSCN,missense_variant,p.Pro7584Thr,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Pro7584Thr,ENST00000366707,;OBSCN,missense_variant,p.Pro6627Thr,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Pro6627Thr,ENST00000636875,;OBSCN,missense_variant,p.Pro1244Thr,ENST00000636476,;	A	ENST00000570156	Transcript	missense_variant	22824/26925	22750/26772	7584/8923	P/T	Cct/Act		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	deleterious(0)		100/116		PROSITE_profiles:PS50011,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	228368833	228368833	C	A	1	0	0	0	0	1	0	0	0	10889	623	22	2		2	OBSCN	1	228368833	Missense_Mutation	SNP	C	C3L-00144_TP	73911	228368833	20587589	170	4449											
HIST3H2A	0	.	GRCh38	chr1	228457637	228457637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagctccaggatctcggCagtcaagtactcgagcaccg	10	6	12	13	3	2	0	1	0	1	0	5	2	3	1	2	3	3	5	2	3	3	1	rs369889949		C3L-00144_TP	C3L-00144_NB	C	C																c.181G>T	p.Ala61Ser	p.A61S	ENST00000366695	1/1	305	223	82	296	296	0	strelka-varscan-mutect	HIST3H2A,missense_variant,p.Ala61Ser,ENST00000366695,NM_033445.2;HIST3H2BB,upstream_gene_variant,,ENST00000620438,NM_175055.2;MIR4666A,upstream_gene_variant,,ENST00000580160,;	A	ENST00000366695	Transcript	missense_variant	237/895	181/393	61/130	A/S	Gcc/Tcc	rs369889949	1		-1	HIST3H2A	HGNC	HGNC:20507	protein_coding	YES	CCDS1573.1	ENSP00000355656	Q7L7L0		UPI0000073CEF	NM_033445.2	deleterious_low_confidence(0.03)		1/1		hmmpanther:PTHR23430,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620																	MODERATE	1	SNV				1										PASS		rs369889949	.												A	3	1	12	228457637	228457637	C	A	1	0	0	0	0	1	0	0	0	7071	710	25	2		2	HIST3H2A	1	228457637	Missense_Mutation	SNP	C	C3L-00144_TP	88804	228457637	20498785	171	4450											
ABCB10	0	.	GRCh38	chr1	229539475	229539475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctccaatgcttattccaacCcagaaagcatacattaggaa	15	9	5	12	0	0	1	0	0	0	1	2	2	2	2	4	1	4	2	4	1	7	4			C3L-00144_TP	C3L-00144_NB	C	C																c.1320G>T	p.Trp440Cys	p.W440C	ENST00000344517	6/13	424	369	55	287	284	3	strelka-varscan-mutect	ABCB10,missense_variant,p.Trp440Cys,ENST00000344517,NM_012089.2;RNU4-21P,upstream_gene_variant,,ENST00000362802,;	A	ENST00000344517	Transcript	missense_variant	1363/3857	1320/2217	440/738	W/C	tgG/tgT	COSM533303	1		-1	ABCB10	HGNC	HGNC:41	protein_coding	YES	CCDS1580.1	ENSP00000355637	Q9NRK6		UPI000013CFBF	NM_012089.2	deleterious(0)		6/13		Gene3D:2hydA01,PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF121,Superfamily_domains:SSF90123,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	229539475	229539475	C	A	1	0	0	0	0	1	0	0	0	45	624	22	2		2	ABCB10	1	229539475	Missense_Mutation	SNP	C	C3L-00144_TP	1081838	229539475	19416947	172	4451											
SIPA1L2	0	.	GRCh38	chr1	232479718	232479718	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtatagagagagtgcgtgCccgtggaatcagctgaaaac	12	8	14	7	2	1	3	1	1	0	2	1	5	1	4	1	2	4	2	1	2	5	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1994G>T	p.Gly665Val	p.G665V	ENST00000366630	6/22	219	168	51	158	158	0	strelka-varscan-mutect	SIPA1L2,missense_variant,p.Gly665Val,ENST00000366630,;SIPA1L2,missense_variant,p.Gly665Val,ENST00000262861,NM_020808.3;	A	ENST00000366630	Transcript	missense_variant	2353/6690	1994/5169	665/1722	G/V	gGc/gTc		1		-1	SIPA1L2	HGNC	HGNC:23800	protein_coding	YES	CCDS41474.1	ENSP00000355589	Q9P2F8		UPI00001D7D6A		deleterious(0.01)		6/22		PROSITE_profiles:PS50085,hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711,Pfam_domain:PF02145,Superfamily_domains:0043732																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	232479718	232479718	C	A	1	0	0	0	0	1	0	0	0	14593	739	26	2		2	SIPA1L2	1	232479718	Missense_Mutation	SNP	C	C3L-00144_TP	2940243	232479718	16476704	173	4452											
PCNX2	0	.	GRCh38	chr1	233025188	233025188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttcggaggtcaaacacCtgcagcatggtggccgcgtt	8	9	12	12	3	1	0	1	0	0	0	3	1	2	1	3	4	3	3	3	4	1	2	rs371347464		C3L-00144_TP	C3L-00144_NB	C	C																c.4563G>T	p.Gln1521His	p.Q1521H	ENST00000258229	26/34	379	327	52	292	291	1	strelka-varscan-mutect	PCNX2,missense_variant,p.Gln1521His,ENST00000258229,NM_014801.3;PCNX2,missense_variant,p.Gln173His,ENST00000344698,;PCNX2,non_coding_transcript_exon_variant,,ENST00000522067,;PCNX2,intron_variant,,ENST00000462233,;PCNX2,downstream_gene_variant,,ENST00000429988,;	A	ENST00000258229	Transcript	missense_variant	4798/7518	4563/6414	1521/2137	Q/H	caG/caT	rs371347464	1		-1	PCNX2	HGNC	HGNC:8736	protein_coding	YES	CCDS44335.1	ENSP00000258229	A6NKB5		UPI0000F58F23	NM_014801.3	deleterious(0.03)		26/34		hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5																	MODERATE	1	SNV	5			1										PASS		rs371347464	.												A	3	1	12	233025188	233025188	C	A	1	0	0	0	0	1	0	0	0	11680	680	24	2		2	PCNX2	1	233025188	Missense_Mutation	SNP	C	C3L-00144_TP	545470	233025188	15931234	174	4453											
ACTN2	0	.	GRCh38	chr1	236751613	236751613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcaagcaacccgtacagCactgtcaccatggatgagct	12	7	9	13	1	2	1	2	1	0	0	2	2	2	2	2	1	6	5	2	1	3	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1800C>A	p.Ser600Arg	p.S600R	ENST00000542672	15/21	505	389	116	430	430	0	strelka-varscan-mutect	ACTN2,missense_variant,p.Ser392Arg,ENST00000546208,NM_001278344.1;ACTN2,missense_variant,p.Ser600Arg,ENST00000542672,NM_001278343.1;ACTN2,missense_variant,p.Ser600Arg,ENST00000366578,NM_001103.3;ACTN2,upstream_gene_variant,,ENST00000461367,;ACTN2,downstream_gene_variant,,ENST00000492101,;	A	ENST00000542672	Transcript	missense_variant	2020/4906	1800/2685	600/894	S/R	agC/agA		1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1	deleterious(0.01)		15/21		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	236751613	236751613	C	A	1	0	0	0	0	1	0	0	0	249	709	25	2		2	ACTN2	1	236751613	Missense_Mutation	SNP	C	C3L-00144_TP	3726425	236751613	12204809	175	4454											
RYR2	0	.	GRCh38	chr1	237595522	237595522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacgcagcaactgctatatGgtatgtgcgggtgagagcat	12	9	13	7	2	0	1	0	1	0	1	0	2	0	1	0	2	6	5	0	2	5	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.4461G>T	p.Met1487Ile	p.M1487I	ENST00000366574	34/105	338	291	47	272	271	1	strelka-varscan-mutect	RYR2,missense_variant,p.Met1487Ile,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Met1471Ile,ENST00000360064,;	T	ENST00000366574	Transcript	missense_variant	4778/16562	4461/14904	1487/4967	M/I	atG/atT		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.05)		34/105		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,SMART_domains:SM00449																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	237595522	237595522	G	T	1	0	0	0	0	1	0	0	0	14029	1348	47	2		2	RYR2	1	237595522	Missense_Mutation	SNP	G	C3L-00144_TP	843909	237595522	11360900	176	4455											
RYR2	0	.	GRCh38	chr1	237614403	237614403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcagcacctccctcaggCcacggatgcagttttcctcc	6	9	8	18	1	2	0	2	0	0	0	5	1	5	1	6	2	2	3	6	2	0	2			C3L-00144_TP	C3L-00144_NB	C	C																c.5275C>A	p.Pro1759Thr	p.P1759T	ENST00000366574	37/105	325	231	94	267	266	1	strelka-varscan-mutect	RYR2,missense_variant,p.Pro1759Thr,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Pro1743Thr,ENST00000360064,;	A	ENST00000366574	Transcript	missense_variant	5592/16562	5275/14904	1759/4967	P/T	Cca/Aca	COSM5302147,COSM533416	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		37/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	12	237614403	237614403	C	A	1	0	0	0	0	1	0	0	0	14029	739	26	2		2	RYR2	1	237614403	Missense_Mutation	SNP	C	C3L-00144_TP	18881	237614403	11342019	177	4456											
RYR2	0	.	GRCh38	chr1	237732125	237732125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgatccttctgtttaGtcggacagctttaacagaga	10	13	9	9	1	2	2	1	1	1	1	4	4	3	3	1	1	3	3	1	1	2	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.11015G>T	p.Ser3672Ile	p.S3672I	ENST00000366574	78/105	147	134	13	129	129	0	strelka-varscan-mutect	RYR2,missense_variant,p.Ser3672Ile,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Ser3656Ile,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;RYR2,downstream_gene_variant,,ENST00000609253,;	T	ENST00000366574	Transcript	missense_variant	11332/16562	11015/14904	3672/4967	S/I	aGt/aTt		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0.01)		78/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	237732125	237732125	G	T	1	0	0	0	0	1	0	0	0	14029	1029	36	2		2	RYR2	1	237732125	Missense_Mutation	SNP	G	C3L-00144_TP	117722	237732125	11224297	178	4457											
ZP4	0	.	GRCh38	chr1	237885843	237885843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaaacctggacattgattgGgagagagttgctacttactg	12	11	12	6	0	0	2	0	1	0	1	0	6	0	4	1	2	4	2	1	2	4	5	rs34811980		C3L-00144_TP	C3L-00144_NB	G	G																c.883C>A	p.Pro295Thr	p.P295T	ENST00000611898	7/13	145	129	16	126	126	0	strelka-varscan-mutect	ZP4,missense_variant,p.Pro295Thr,ENST00000611898,NM_021186.3;ZP4,missense_variant,p.Pro295Thr,ENST00000366570,;RP11-193H5.1,intron_variant,,ENST00000450451,;	T	ENST00000611898	Transcript	missense_variant	1170/2474	883/1623	295/540	P/T	Cca/Aca	rs34811980,COSM5257682	1		-1	ZP4	HGNC	HGNC:15770	protein_coding	YES	CCDS1615.1	ENSP00000482304	Q12836		UPI000006F0E4	NM_021186.3	deleterious(0)		7/13		Pfam_domain:PF00100,PROSITE_profiles:PS51034,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,SMART_domains:SM00241											0,1						MODERATE		SNV	5		0,1	1										PASS		rs34811980	.												T	3	4	12	237885843	237885843	G	T	1	0	0	0	0	1	0	0	0	18810	1232	43	2		2	ZP4	1	237885843	Missense_Mutation	SNP	G	C3L-00144_TP	153718	237885843	11070579	179	4458											
ZP4	0	.	GRCh38	chr1	237887539	237887539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaatagagaaatggccCtctcgggtacaatgcaaggt	14	7	11	9	1	1	1	0	0	1	1	2	2	1	1	1	3	3	3	1	3	6	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.576G>T	p.Glu192Asp	p.E192D	ENST00000611898	5/13	157	105	52	114	114	0	strelka-varscan-mutect	ZP4,missense_variant,p.Glu192Asp,ENST00000611898,NM_021186.3;ZP4,missense_variant,p.Glu192Asp,ENST00000366570,;RP11-193H5.1,intron_variant,,ENST00000450451,;	A	ENST00000611898	Transcript	missense_variant	863/2474	576/1623	192/540	E/D	gaG/gaT		1		-1	ZP4	HGNC	HGNC:15770	protein_coding	YES	CCDS1615.1	ENSP00000482304	Q12836		UPI000006F0E4	NM_021186.3	tolerated(1)		5/13		Gene3D:4.10.110.10,Pfam_domain:PF00100,PROSITE_profiles:PS51034,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,SMART_domains:SM00241,Superfamily_domains:SSF57492																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	12	237887539	237887539	C	A	1	0	0	0	0	1	0	0	0	18810	680	24	2		2	ZP4	1	237887539	Missense_Mutation	SNP	C	C3L-00144_TP	1696	237887539	11068883	180	4459											
FMN2	0	.	GRCh38	chr1	240092733	240092733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgatccgcctgcagcagcaGcagcagcagcagctccagct	9	4	12	16	2	0	0	0	0	0	0	2	1	2	0	3	0	9	9	3	0	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.624G>T	p.Gln208His	p.Q208H	ENST00000319653	1/18	176	154	22	185	185	0	strelka-varscan-mutect	FMN2,missense_variant,p.Gln208His,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,intron_variant,,ENST00000447095,;	T	ENST00000319653	Transcript	missense_variant	854/6434	624/5169	208/1722	Q/H	caG/caT		1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4	deleterious_low_confidence(0)		1/18		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs1206006138	.												T	3	4	12	240092733	240092733	G	T	1	0	0	0	0	1	0	0	0	5806	962	34	2		2	FMN2	1	240092733	Missense_Mutation	SNP	G	C3L-00144_TP	2205194	240092733	8863689	181	4460											
FMN2	0	.	GRCh38	chr1	240207299	240207299	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcctgggtcacagccGccccattctatttctaccga	8	9	9	15	2	3	0	1	0	2	0	3	2	3	1	5	2	3	0	5	2	2	4			C3L-00144_TP	C3L-00144_NB	G	G																c.2487G>C	p.=	p.P829P	ENST00000319653	5/18	229	164	65	213	213	0	strelka-varscan-mutect	FMN2,synonymous_variant,p.=,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;	C	ENST00000319653	Transcript	synonymous_variant	2717/6434	2487/5169	829/1722	P	ccG/ccC	COSM2049379	1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4			5/18		SMART_domains:SM00498											1						LOW	1	SNV	5		1	1										PASS		rs1372491335	.												C	2	2	12	240207299	240207299	G	C	1	0	0	0	0	0	0	0	1	5806	1074	38	4		4	FMN2	1	240207299	Silent	SNP	G	C3L-00144_TP	114566	240207299	8749123	182	4461											
FMN2	0	.	GRCh38	chr1	240211090	240211090	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttttgcttaattttaGagactccagtacttcactta	9	19	5	8	0	2	1	1	0	1	1	3	2	3	1	1	0	2	3	1	0	4	9	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3921-1G>T		p.X1307_splice	ENST00000319653		128	114	14	110	110	0	strelka-varscan-mutect	FMN2,splice_acceptor_variant,,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;	T	ENST00000319653	Transcript	splice_acceptor_variant	-/6434	3921/5169	1307/1722				1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4				5/17																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	12	240211090	240211090	G	T	1	0	0	0	0	0	0	1	0	5806	956	33	2		2	FMN2	1	240211090	Splice_Site	SNP	G	C3L-00144_TP	3791	240211090	8745332	183	4462											
GREM2	0	.	GRCh38	chr1	240493398	240493398	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaggggatggcgcccgcCggccggttcttccgggcttc	2	7	18	14	6	1	0	0	0	1	0	3	2	2	1	4	7	0	2	4	7	0	3			C3L-00144_TP	C3L-00144_NB	C	C																c.78G>T	p.=	p.P26P	ENST00000318160	2/2	134	115	19	112	111	1	strelka-varscan-mutect	GREM2,synonymous_variant,p.=,ENST00000318160,NM_022469.3;	A	ENST00000318160	Transcript	synonymous_variant	345/4170	78/507	26/168	P	ccG/ccT	COSM1639766	1		-1	GREM2	HGNC	HGNC:17655	protein_coding	YES	CCDS31070.1	ENSP00000318650	Q9H772	A0A024R3Y1	UPI000006F961	NM_022469.3			2/2		hmmpanther:PTHR15283:SF2,hmmpanther:PTHR15283,PIRSF_domain:PIRSF037254											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	12	240493398	240493398	C	A	1	0	0	0	0	0	0	0	1	6642	639	23	1		1	GREM2	1	240493398	Silent	SNP	C	C3L-00144_TP	282308	240493398	8463024	184	4463											
WDR64	0	.	GRCh38	chr1	241801171	241801171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaaaaatttagtcccaCaaataaatctggcttcttcc	16	12	4	9	0	2	1	0	1	2	0	4	1	4	1	2	1	0	1	2	1	8	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3202C>A	p.Gln1068Lys	p.Q1068K	ENST00000366552	27/27	246	192	54	171	171	0	strelka-varscan-mutect	WDR64,missense_variant,p.Gln1068Lys,ENST00000366552,NM_144625.4;WDR64,missense_variant,p.Gln621Lys,ENST00000437684,;WDR64,missense_variant,p.Gln672Lys,ENST00000414635,;WDR64,missense_variant,p.Gln547Lys,ENST00000425826,;WDR64,downstream_gene_variant,,ENST00000472717,;	A	ENST00000366552	Transcript	missense_variant	3409/4371	3202/3246	1068/1081	Q/K	Caa/Aaa		1		1	WDR64	HGNC	HGNC:26570	protein_coding	YES		ENSP00000355510	B1ANS9		UPI0000519142	NM_144625.4	tolerated_low_confidence(0.06)		27/27																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	241801171	241801171	C	A	1	0	0	0	0	1	0	0	0	17874	479	17	2		2	WDR64	1	241801171	Missense_Mutation	SNP	C	C3L-00144_TP	1307773	241801171	7155251	185	4464											
CEP170	0	.	GRCh38	chr1	243186030	243186030	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgttttaacaatttccCatgtggaacaccatgccccc	9	14	5	13	0	1	0	0	0	1	0	2	1	2	1	4	1	3	1	4	1	3	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1315G>T	p.Gly439Trp	p.G439W	ENST00000366542	10/20	432	325	107	313	312	1	strelka-varscan-mutect	CEP170,missense_variant,p.Gly439Trp,ENST00000366542,NM_014812.2;CEP170,missense_variant,p.Gly403Trp,ENST00000336415,;CEP170,intron_variant,,ENST00000366544,NM_001042404.1;CEP170,intron_variant,,ENST00000366543,NM_001042405.1;CEP170,intron_variant,,ENST00000522895,;CEP170,missense_variant,p.Gly23Trp,ENST00000461671,;CEP170,non_coding_transcript_exon_variant,,ENST00000521911,;	A	ENST00000366542	Transcript	missense_variant	1367/6828	1315/4755	439/1584	G/W	Ggg/Tgg		1		-1	CEP170	HGNC	HGNC:28920	protein_coding	YES	CCDS44339.1	ENSP00000355500	Q5SW79		UPI0000470238	NM_014812.2	deleterious(0)		10/20		hmmpanther:PTHR15715:SF17,hmmpanther:PTHR15715																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	243186030	243186030	C	A	1	0	0	0	0	1	0	0	0	2964	594	21	2		2	CEP170	1	243186030	Missense_Mutation	SNP	C	C3L-00144_TP	1384859	243186030	5770392	186	4465											
KIF26B	0	.	GRCh38	chr1	245419609	245419609	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatgacagagagtagccggGagggactaacagaagcagtg	14	5	16	6	1	0	4	0	2	0	2	0	7	0	6	1	2	3	2	1	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1030G>T	p.Glu344Ter	p.E344*	ENST00000407071	4/15	117	84	33	77	77	0	strelka-varscan-mutect	KIF26B,stop_gained,p.Glu344Ter,ENST00000407071,NM_018012.3;	T	ENST00000407071	Transcript	stop_gained	1470/7287	1030/6327	344/2108	E/*	Gag/Tag		1		1	KIF26B	HGNC	HGNC:25484	protein_coding	YES	CCDS44342.1	ENSP00000385545	Q2KJY2		UPI0000695D71	NM_018012.3			4/15																			HIGH	1	SNV	1			1										PASS		rs964844060	.												T	4	4	12	245419609	245419609	G	T	1	0	0	0	0	0	1	0	0	8160	1175	41	2		2	KIF26B	1	245419609	Nonsense_Mutation	SNP	G	C3L-00144_TP	2233579	245419609	3536813	187	4466											
NLRP3	0	.	GRCh38	chr1	247424124	247424124	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgtggtgttccagggggcGgcagggattgggaaaacaat	10	7	17	7	2	0	0	0	0	0	0	1	2	1	2	2	6	1	2	2	6	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.681G>T	p.=	p.A227A	ENST00000336119	3/9	318	271	47	225	225	0	strelka-varscan-mutect	NLRP3,synonymous_variant,p.=,ENST00000366497,NM_001127461.2;NLRP3,synonymous_variant,p.=,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,synonymous_variant,p.=,ENST00000366496,;NLRP3,synonymous_variant,p.=,ENST00000391828,NM_001079821.2;NLRP3,synonymous_variant,p.=,ENST00000348069,NM_183395.2;NLRP3,synonymous_variant,p.=,ENST00000391827,NM_001127462.2;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	T	ENST00000336119	Transcript	synonymous_variant	1427/4170	681/3111	227/1036	A	gcG/gcT		1		1	NLRP3	HGNC	HGNC:16400	protein_coding	YES	CCDS1632.1	ENSP00000337383	Q96P20		UPI00001CE3AD	NM_004895.4,NM_001243133.1			3/9		PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4,Pfam_domain:PF05729,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs938034710	.												T	2	4	12	247424124	247424124	G	T	1	0	0	0	0	0	0	0	1	10516	1103	39	1		1	NLRP3	1	247424124	Silent	SNP	G	C3L-00144_TP	2004515	247424124	1532298	188	4467											
NLRP3	0	.	GRCh38	chr1	247436055	247436055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccctgaccagactctatGtgggggagaatgccttggga	9	10	13	9	0	1	3	0	1	1	2	2	5	2	4	3	3	1	0	3	3	2	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2584G>T	p.Val862Leu	p.V862L	ENST00000336119	6/9	432	310	122	389	389	0	strelka-varscan-mutect	NLRP3,missense_variant,p.Val862Leu,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,missense_variant,p.Val862Leu,ENST00000391828,NM_001079821.2;NLRP3,missense_variant,p.Val805Leu,ENST00000391827,NM_001127462.2;NLRP3,intron_variant,,ENST00000366497,NM_001127461.2;NLRP3,intron_variant,,ENST00000366496,;NLRP3,intron_variant,,ENST00000348069,NM_183395.2;	T	ENST00000336119	Transcript	missense_variant	3330/4170	2584/3111	862/1036	V/L	Gtg/Ttg		1		1	NLRP3	HGNC	HGNC:16400	protein_coding	YES	CCDS1632.1	ENSP00000337383	Q96P20		UPI00001CE3AD	NM_004895.4,NM_001243133.1	tolerated(1)		6/9		hmmpanther:PTHR24106:SF4,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	247436055	247436055	G	T	1	0	0	0	0	1	0	0	0	10516	1377	48	2		2	NLRP3	1	247436055	Missense_Mutation	SNP	G	C3L-00144_TP	11931	247436055	1520367	189	4468											
OR14K1	0	.	GRCh38	chr1	247738752	247738752	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttagtcatcattctcctCatgattctggaccatcgtct	9	16	5	11	1	6	1	3	1	3	0	8	2	6	2	2	1	0	0	2	1	2	4	rs767085763		C3L-00144_TP	C3L-00144_NB	C	C																c.138C>A	p.=	p.L46L	ENST00000283225	1/1	156	120	36	169	169	0	strelka-varscan-mutect	OR14K1,synonymous_variant,p.=,ENST00000283225,;RP11-634B7.4,intron_variant,,ENST00000449298,;	A	ENST00000283225	Transcript	synonymous_variant	138/945	138/945	46/314	L	ctC/ctA	rs767085763	1		1	OR14K1	HGNC	HGNC:15025	protein_coding	YES		ENSP00000283225	Q8NGZ2		UPI0000041CBA				1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW		SNV				1										PASS		rs1316046289	.												A	2	1	12	247738752	247738752	C	A	1	0	0	0	0	0	0	0	1	11026	813	29	2		2	OR14K1	1	247738752	Silent	SNP	C	C3L-00144_TP	302697	247738752	1217670	190	4469											
OR11L1	0	.	GRCh38	chr1	247841505	247841505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgcatgaggaaggggtagCggagtgggctgcagatggcc	9	6	20	6	1	0	2	0	1	0	1	0	5	0	4	1	6	3	4	1	6	2	1	rs148646914		C3L-00144_TP	C3L-00144_NB	C	C																c.392G>A	p.Arg131His	p.R131H	ENST00000355784	1/1	263	185	78	246	246	0	strelka-varscan-mutect	OR11L1,missense_variant,p.Arg131His,ENST00000355784,NM_001001959.1;	T	ENST00000355784	Transcript	missense_variant	392/969	392/969	131/322	R/H	cGc/cAc	rs148646914	1		-1	OR11L1	HGNC	HGNC:14998	protein_coding	YES	CCDS31098.1	ENSP00000348033	Q8NGX0		UPI0000061EBC	NM_001001959.1	tolerated(1)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF295,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs148646914	.												T	3	4	12	247841505	247841505	C	T	1	0	0	0	0	1	0	0	0	11007	768	27	1		1	OR11L1	1	247841505	Missense_Mutation	SNP	C	C3L-00144_TP	102753	247841505	1114917	191	4470											
OR2W3	0	.	GRCh38	chr1	247896156	247896156	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatccggatggcctgcgtCagcactgtggccatcgaagg	7	8	14	12	3	1	1	1	1	0	0	3	3	2	2	3	4	2	1	3	4	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.570C>G	p.=	p.V190V	ENST00000360358	1/1	116	110	6	110	110	0	strelka-varscan-mutect	OR2W3,synonymous_variant,p.=,ENST00000360358,NM_001001957.2;	G	ENST00000360358	Transcript	synonymous_variant	570/945	570/945	190/314	V	gtC/gtG		1		1	OR2W3	HGNC	HGNC:15021	protein_coding	YES	CCDS31099.1	ENSP00000353516	Q7Z3T1		UPI0000061EA8	NM_001001957.2			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF223,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	LOW	1	SNV				1										PASS		.	.												G	2	3	12	247896156	247896156	C	G	1	0	0	0	0	0	0	0	1	11111	813	29	4		4	OR2W3	1	247896156	Silent	SNP	C	C3L-00144_TP	54651	247896156	1060266	192	4471											
OR2L3	0	.	GRCh38	chr1	248061357	248061357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttctccttgctgtctacCacatgaaatctgcagaaggg	9	11	11	10	0	3	2	0	1	3	1	4	2	3	2	2	2	3	3	2	2	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.676C>A	p.His226Asn	p.H226N	ENST00000359959	1/1	252	194	58	238	238	0	strelka-varscan-mutect	OR2L3,missense_variant,p.His226Asn,ENST00000359959,NM_001004687.1;	A	ENST00000359959	Transcript	missense_variant	676/939	676/939	226/312	H/N	Cac/Aac		1		1	OR2L3	HGNC	HGNC:15009	protein_coding	YES	CCDS31104.1	ENSP00000353044	Q8NG85		UPI0000061EB8	NM_001004687.1	deleterious(0.04)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF166,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1193315031	.												A	3	1	12	248061357	248061357	C	A	1	0	0	0	0	1	0	0	0	11086	594	21	2		2	OR2L3	1	248061357	Missense_Mutation	SNP	C	C3L-00144_TP	165201	248061357	895065	193	4472											
OR2M7	0	.	GRCh38	chr1	248324298	248324298	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccagccatagaaatggActtgctgccagacaagtagt	14	7	10	10	0	0	2	0	0	0	2	0	3	0	3	3	1	4	2	3	1	4	3			C3L-00144_TP	C3L-00144_NB	A	A																c.271T>A	p.Ser91Thr	p.S91T	ENST00000317965	1/1	173	156	17	203	203	0	varscan-mutect	OR2M7,missense_variant,p.Ser91Thr,ENST00000317965,NM_001004691.1;	T	ENST00000317965	Transcript	missense_variant	271/939	271/939	91/312	S/T	Tcc/Acc	COSM4919041	1		-1	OR2M7	HGNC	HGNC:19594	protein_coding	YES	CCDS31111.1	ENSP00000324557	Q8NG81	A0A126GVZ1	UPI000004B236	NM_001004691.1	tolerated(0.31)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF28,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	12	248324298	248324298	A	T	1	0	0	0	0	1	0	0	0	11092	275	10	4		4	OR2M7	1	248324298	Missense_Mutation	SNP	A	C3L-00144_TP	262941	248324298	632124	194	4473											
OR2T35	0	.	GRCh38	chr1	248638422	248638422	+	Silent	SNP	G	G	T																															ttgagcatgggggtgaggatGgtgtagaaggcagacaccac																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.837C>A	p.=	p.T279T	ENST00000317450	1/1	145	122	23	150	150	0	strelka-varscan-mutect	OR2T35,synonymous_variant,p.=,ENST00000317450,NM_001001827.1;	T	ENST00000317450	Transcript	synonymous_variant	837/972	837/972	279/323	T	acC/acA		1		-1	OR2T35	HGNC	HGNC:31257	protein_coding	YES	CCDS31123.1	ENSP00000324369	Q8NGX2		UPI0000061ED3	NM_001001827.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF18,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												T	2	4	12	248638422	248638422	G	T	1	0	0	0	0	0	0	0	1	11103	1335	47	2		2	OR2T35	1	248638422	Silent	SNP	G	C3L-00144_TP	314124	248638422	318000	195	4474	102	2									
OR2T35	0	.	GRCh38	chr1	248638423	248638423	+	Missense_Mutation	SNP	G	G	T																															tgagcatgggggtgaggatgGtgtagaaggcagacaccact																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.836C>A	p.Thr279Asn	p.T279N	ENST00000317450	1/1	143	121	22	150	150	0	strelka-varscan-mutect	OR2T35,missense_variant,p.Thr279Asn,ENST00000317450,NM_001001827.1;	T	ENST00000317450	Transcript	missense_variant	836/972	836/972	279/323	T/N	aCc/aAc		1		-1	OR2T35	HGNC	HGNC:31257	protein_coding	YES	CCDS31123.1	ENSP00000324369	Q8NGX2		UPI0000061ED3	NM_001001827.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF18,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs1300873500	.												T	3	4	12	248638423	248638423	G	T	1	0	0	0	0	1	0	0	0	11103	1261	44	2		2	OR2T35	1	248638423	Missense_Mutation	SNP	G	C3L-00144_TP	1	248638423	317999	196	4475	102	2									
ACP1	0	.	GRCh38	chr2	272210	272210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgggtcattgacagcggtGctgtttctgactggaacgtg	7	12	15	7	2	2	2	1	2	1	0	2	3	2	3	0	3	3	2	0	3	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.136G>T	p.Ala46Ser	p.A46S	ENST00000272067	3/6	454	383	71	407	407	0	strelka-varscan-mutect	ACP1,missense_variant,p.Ala46Ser,ENST00000272067,NM_007099.3;ACP1,missense_variant,p.Ala46Ser,ENST00000439645,;ACP1,synonymous_variant,p.=,ENST00000405233,;ACP1,synonymous_variant,p.=,ENST00000407983,NM_001040649.2;ACP1,intron_variant,,ENST00000272065,NM_004300.3;ACP1,intron_variant,,ENST00000484464,;ACP1,synonymous_variant,p.=,ENST00000453390,;ACP1,3_prime_UTR_variant,,ENST00000405364,;ACP1,intron_variant,,ENST00000480874,;ACP1,intron_variant,,ENST00000413140,;ACP1,intron_variant,,ENST00000442386,;ACP1,upstream_gene_variant,,ENST00000463831,;	T	ENST00000272067	Transcript	missense_variant	232/1552	136/477	46/158	A/S	Gct/Tct		1		1	ACP1	HGNC	HGNC:122	protein_coding	YES	CCDS1640.1	ENSP00000272067	P24666		UPI0000000C82	NM_007099.3	deleterious(0)		3/6		Gene3D:3.40.50.270,Pfam_domain:PF01451,hmmpanther:PTHR11717,hmmpanther:PTHR11717:SF7,SMART_domains:SM00226,Superfamily_domains:SSF52788																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	272210	272210	G	T	1	0	0	0	0	1	0	0	0	204	1319	46	2		2	ACP1	2	272210	Missense_Mutation	SNP	G	C3L-00144_TP		272210	241921319	197	4476											
MYT1L	0	.	GRCh38	chr2	1917256	1917256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggacaggctgcggtgatGtgggtacagcccagttacgt	7	9	15	10	3	0	1	0	1	0	0	1	2	1	2	2	4	4	3	2	4	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1567C>A	p.His523Asn	p.H523N	ENST00000399161	11/25	226	165	61	144	144	0	strelka-varscan-mutect	MYT1L,missense_variant,p.His523Asn,ENST00000399161,NM_001303052.1;MYT1L,missense_variant,p.His521Asn,ENST00000428368,NM_015025.3;MYT1L,missense_variant,p.His177Asn,ENST00000602387,;	T	ENST00000399161	Transcript	missense_variant	2315/7063	1567/3561	523/1186	H/N	Cat/Aat		1		-1	MYT1L	HGNC	HGNC:7623	protein_coding	YES	CCDS77378.1	ENSP00000382114	Q9UL68		UPI0000140B19	NM_001303052.1	deleterious(0)		11/25		hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF11,Pfam_domain:PF01530,Superfamily_domains:0042508																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	1917256	1917256	G	T	1	0	0	0	0	1	0	0	0	10106	1377	48	2		2	MYT1L	2	1917256	Missense_Mutation	SNP	G	C3L-00144_TP	1645046	1917256	240276273	198	4477											
MYT1L	0	.	GRCh38	chr2	1922300	1922300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattacctttaccatagtatGgctttttgacatggctgtca	9	17	7	8	0	1	1	1	1	0	0	1	1	1	1	2	2	2	3	2	2	5	8			C3L-00144_TP	C3L-00144_NB	G	G																c.1469C>A	p.Pro490Gln	p.P490Q	ENST00000399161	10/25	109	73	36	103	103	0	strelka-varscan-mutect	MYT1L,missense_variant,p.Pro490Gln,ENST00000399161,NM_001303052.1;MYT1L,missense_variant,p.Pro490Gln,ENST00000428368,NM_015025.3;MYT1L,missense_variant,p.Pro144Gln,ENST00000602387,;	T	ENST00000399161	Transcript	missense_variant	2217/7063	1469/3561	490/1186	P/Q	cCa/cAa	COSM4918917,COSM4918918	1		-1	MYT1L	HGNC	HGNC:7623	protein_coding	YES	CCDS77378.1	ENSP00000382114	Q9UL68		UPI0000140B19	NM_001303052.1	deleterious(0.05)		10/25		hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF11											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	12	1922300	1922300	G	T	1	0	0	0	0	1	0	0	0	10106	1348	47	2		2	MYT1L	2	1922300	Missense_Mutation	SNP	G	C3L-00144_TP	5044	1922300	240271229	199	4478											
FAM84A	0	.	GRCh38	chr2	14634682	14634682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggaggggaggtgccggcaGgcacgcagcccccgcagcag	7	1	19	14	4	0	0	0	0	0	0	0	2	0	2	3	6	3	5	3	6	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.703G>T	p.Gly235Cys	p.G235C	ENST00000295092	2/2	36	30	6	38	38	0	strelka-varscan-mutect	FAM84A,missense_variant,p.Gly235Cys,ENST00000295092,NM_145175.2;FAM84A,missense_variant,p.Gly235Cys,ENST00000331243,;AC011897.2,downstream_gene_variant,,ENST00000450715,;AC011897.2,downstream_gene_variant,,ENST00000418481,;FAM84A,upstream_gene_variant,,ENST00000497769,;FAM84A,upstream_gene_variant,,ENST00000464947,;	T	ENST00000295092	Transcript	missense_variant	991/6355	703/879	235/292	G/C	Ggc/Tgc		1		1	FAM84A	HGNC	HGNC:20743	protein_coding	YES	CCDS1684.1	ENSP00000295092	Q96KN4		UPI000013E203	NM_145175.2	deleterious(0)		2/2		hmmpanther:PTHR13943:SF38,hmmpanther:PTHR13943																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	14634682	14634682	G	T	1	0	0	0	0	1	0	0	0	5499	1000	35	2		2	FAM84A	2	14634682	Missense_Mutation	SNP	G	C3L-00144_TP	12712382	14634682	227558847	200	4479											
NBAS	0	.	GRCh38	chr2	15511282	15511282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaagaactctccaggcaGaaaggccacagctagaagct	15	5	10	11	0	1	4	0	1	1	3	2	4	1	4	2	2	3	3	2	2	5	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.815C>A	p.Ser272Tyr	p.S272Y	ENST00000281513	10/52	527	486	41	372	371	1	strelka-varscan-mutect	NBAS,missense_variant,p.Ser272Tyr,ENST00000281513,NM_015909.3;NBAS,missense_variant,p.Ser8Tyr,ENST00000427792,;	T	ENST00000281513	Transcript	missense_variant	841/7281	815/7116	272/2371	S/Y	tCt/tAt		1		-1	NBAS	HGNC	HGNC:15625	protein_coding	YES	CCDS1685.1	ENSP00000281513	A2RRP1		UPI00001AEA68	NM_015909.3	deleterious(0)		10/52		Pfam_domain:PF15492,hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2,Superfamily_domains:SSF50969																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	15511282	15511282	G	T	1	0	0	0	0	1	0	0	0	10197	942	33	2		2	NBAS	2	15511282	Missense_Mutation	SNP	G	C3L-00144_TP	876600	15511282	226682247	201	4480											
OSR1	0	.	GRCh38	chr2	19353496	19353496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctggaacgctgcctccagCggtgatctcgggcttgggtt	4	10	15	12	4	1	1	0	1	1	0	3	2	2	2	2	4	3	4	2	4	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.310G>C	p.Ala104Pro	p.A104P	ENST00000272223	2/3	208	169	39	175	175	0	strelka-varscan-mutect	OSR1,missense_variant,p.Ala104Pro,ENST00000272223,NM_145260.2;MIR4757,downstream_gene_variant,,ENST00000584244,;OSR1,downstream_gene_variant,,ENST00000498844,;OSR1,non_coding_transcript_exon_variant,,ENST00000487581,;	G	ENST00000272223	Transcript	missense_variant	655/1936	310/801	104/266	A/P	Gct/Cct		1		-1	OSR1	HGNC	HGNC:8111	protein_coding	YES	CCDS1694.1	ENSP00000272223	Q8TAX0		UPI000006EA6A	NM_145260.2	tolerated(0.19)		2/3		hmmpanther:PTHR14196,hmmpanther:PTHR14196:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	19353496	19353496	C	G	1	0	0	0	0	1	0	0	0	11360	768	27	4		4	OSR1	2	19353496	Missense_Mutation	SNP	C	C3L-00144_TP	3842214	19353496	222840033	202	4481											
APOB	0	.	GRCh38	chr2	21009499	21009499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttttgtggtagttccaGagcctgaatttcaccattga	9	15	9	8	0	1	3	1	2	0	1	2	3	2	3	3	1	2	3	3	1	2	6			C3L-00144_TP	C3L-00144_NB	G	G																c.7369C>A	p.Leu2457Met	p.L2457M	ENST00000233242	26/29	580	477	103	405	404	1	strelka-varscan-mutect	APOB,missense_variant,p.Leu2457Met,ENST00000233242,NM_000384.2;	T	ENST00000233242	Transcript	missense_variant	7497/14121	7369/13692	2457/4563	L/M	Ctg/Atg	COSM3577224	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	deleterious(0)		26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	12	21009499	21009499	G	T	1	0	0	0	0	1	0	0	0	907	933	33	2		2	APOB	2	21009499	Missense_Mutation	SNP	G	C3L-00144_TP	1656003	21009499	221184030	203	4482											
APOB	0	.	GRCh38	chr2	21015258	21015258	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaattcaatcttctcttCatctgaaaatacgtaggaaa	15	14	4	8	1	6	1	3	1	3	0	7	2	6	2	0	1	1	1	0	1	7	6			C3L-00144_TP	C3L-00144_NB	C	C																c.3511G>T	p.Glu1171Ter	p.E1171*	ENST00000233242	23/29	534	437	97	369	368	1	strelka-varscan-mutect	APOB,stop_gained,p.Glu1171Ter,ENST00000233242,NM_000384.2;	A	ENST00000233242	Transcript	stop_gained,splice_region_variant	3639/14121	3511/13692	1171/4563	E/*	Gaa/Taa	COSM287440	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			23/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	12	21015258	21015258	C	A	1	0	0	0	0	0	1	0	0	907	840	29	2		2	APOB	2	21015258	Nonsense_Mutation	SNP	C	C3L-00144_TP	5759	21015258	221178271	204	4483											
TDRD15	0	.	GRCh38	chr2	21142816	21142816	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggagttcataattccCggttctagttgtttgttcaa	8	16	8	9	1	4	0	3	0	1	0	5	1	5	1	2	2	0	5	2	2	3	8	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.5349C>A	p.=	p.P1783P	ENST00000405799	4/4	220	167	53	157	157	0	strelka-varscan-mutect	TDRD15,synonymous_variant,p.=,ENST00000405799,;TDRD15,synonymous_variant,p.=,ENST00000622654,;	A	ENST00000405799	Transcript	synonymous_variant	5679/6135	5349/5805	1783/1934	P	ccC/ccA		1		1	TDRD15	HGNC	HGNC:45037	protein_coding	YES	CCDS77385.1	ENSP00000384376	B5MCY1		UPI000173A3F5				4/4		Gene3D:2.30.30.140,Pfam_domain:PF00567,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7,SMART_domains:SM00333,Superfamily_domains:SSF63748																	LOW	1	SNV	2			1										PASS		rs927430740	.												A	2	1	12	21142816	21142816	C	A	1	0	0	0	0	0	0	0	1	16141	639	23	1		1	TDRD15	2	21142816	Silent	SNP	C	C3L-00144_TP	127558	21142816	221050713	205	4484											
OTOF	0	.	GRCh38	chr2	26461935	26461935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgctggcccttcagcCacctgtgggcgccacatctc	4	9	9	19	1	2	0	1	0	1	0	4	0	3	0	6	2	2	1	6	2	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.5294G>T	p.Trp1765Leu	p.W1765L	ENST00000272371	43/47	473	387	86	388	388	0	strelka-varscan-mutect	OTOF,missense_variant,p.Trp1765Leu,ENST00000272371,NM_194248.2;OTOF,missense_variant,p.Trp1765Leu,ENST00000403946,NM_001287489.1;OTOF,missense_variant,p.Trp1075Leu,ENST00000402415,NM_194322.2;OTOF,missense_variant,p.Trp998Leu,ENST00000338581,NM_004802.3;OTOF,missense_variant,p.Trp998Leu,ENST00000339598,NM_194323.2;OTOF,downstream_gene_variant,,ENST00000464574,;	A	ENST00000272371	Transcript	missense_variant,splice_region_variant	5421/7156	5294/5994	1765/1997	W/L	tGg/tTg		1		-1	OTOF	HGNC	HGNC:8515	protein_coding	YES	CCDS1725.1	ENSP00000272371	Q9HC10		UPI000013D94D	NM_194248.2	deleterious(0)		43/47		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	26461935	26461935	C	A	1	0	0	0	0	1	0	0	0	11369	608	21	2		2	OTOF	2	26461935	Missense_Mutation	SNP	C	C3L-00144_TP	5319119	26461935	215731594	206	4485											
OTOF	0	.	GRCh38	chr2	26479314	26479314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcattgtagaggcggcggcGctggtccggccaccagctct	5	7	16	13	4	1	1	0	0	1	1	2	1	2	1	3	6	1	4	3	6	1	2	rs746368147		C3L-00144_TP	C3L-00144_NB	G	G																c.2164C>A	p.Arg722Ser	p.R722S	ENST00000272371	18/47	326	245	81	289	289	0	strelka-varscan-mutect	OTOF,missense_variant,p.Arg722Ser,ENST00000272371,NM_194248.2;OTOF,missense_variant,p.Arg722Ser,ENST00000403946,NM_001287489.1;OTOF,upstream_gene_variant,,ENST00000402415,NM_194322.2;OTOF,upstream_gene_variant,,ENST00000338581,NM_004802.3;OTOF,upstream_gene_variant,,ENST00000339598,NM_194323.2;	T	ENST00000272371	Transcript	missense_variant	2291/7156	2164/5994	722/1997	R/S	Cgc/Agc	rs746368147	1		-1	OTOF	HGNC	HGNC:8515	protein_coding	YES	CCDS1725.1	ENSP00000272371	Q9HC10		UPI000013D94D	NM_194248.2	tolerated(0.18)		18/47		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32																	MODERATE	1	SNV	1			1										PASS		rs746368147	.												T	3	4	12	26479314	26479314	G	T	1	0	0	0	0	1	0	0	0	11369	1087	38	1		1	OTOF	2	26479314	Missense_Mutation	SNP	G	C3L-00144_TP	17379	26479314	215714215	207	4486											
TCF23	0	.	GRCh38	chr2	27150143	27150143	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaggccagtcctgagaaTgccgcgcgggagcggagccg	8	3	18	12	6	0	1	0	1	0	1	1	5	1	3	4	3	4	0	4	3	1	0	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.243T>C	p.=	p.N81N	ENST00000296096	2/3	116	91	25	95	94	1	varscan-mutect	TCF23,synonymous_variant,p.=,ENST00000296096,NM_175769.2;TCF23,downstream_gene_variant,,ENST00000407815,;	C	ENST00000296096	Transcript	synonymous_variant	373/4882	243/645	81/214	N	aaT/aaC		1		1	TCF23	HGNC	HGNC:18602	protein_coding	YES	CCDS33163.1	ENSP00000296096	Q7RTU1		UPI00001AEC06	NM_175769.2			2/3		Gene3D:4.10.280.10,PROSITE_profiles:PS50888,hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF58																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	12	27150143	27150143	T	C	1	0	0	0	0	0	0	0	1	16099	1461	51	5		5	TCF23	2	27150143	Silent	SNP	T	C3L-00144_TP	670829	27150143	215043386	208	4487											
SLC5A6	0	.	GRCh38	chr2	27207327	27207327	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaggtatcagcagcccCagaaagtagcagcagcccag	12	5	12	12	0	1	1	1	0	0	1	1	1	1	1	3	1	6	6	3	1	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.324G>C	p.=	p.L108L	ENST00000310574	3/17	276	211	65	198	198	0	strelka-varscan-mutect	SLC5A6,synonymous_variant,p.=,ENST00000310574,NM_021095.2;SLC5A6,synonymous_variant,p.=,ENST00000408041,;SLC5A6,synonymous_variant,p.=,ENST00000412471,;SLC5A6,synonymous_variant,p.=,ENST00000401463,;SLC5A6,synonymous_variant,p.=,ENST00000432106,;SLC5A6,synonymous_variant,p.=,ENST00000426119,;ATRAID,upstream_gene_variant,,ENST00000611786,NM_080592.3;ATRAID,upstream_gene_variant,,ENST00000380171,;ATRAID,upstream_gene_variant,,ENST00000606999,NM_001170795.1;SLC5A6,downstream_gene_variant,,ENST00000414408,;SLC5A6,downstream_gene_variant,,ENST00000430186,;SLC5A6,downstream_gene_variant,,ENST00000428518,;SLC5A6,downstream_gene_variant,,ENST00000442731,;SLC5A6,upstream_gene_variant,,ENST00000461319,;SLC5A6,synonymous_variant,p.=,ENST00000445802,;SLC5A6,non_coding_transcript_exon_variant,,ENST00000488743,;SLC5A6,upstream_gene_variant,,ENST00000461757,;SLC5A6,upstream_gene_variant,,ENST00000476319,;SLC5A6,upstream_gene_variant,,ENST00000492069,;SLC5A6,upstream_gene_variant,,ENST00000464538,;SLC5A6,upstream_gene_variant,,ENST00000481751,;ATRAID,upstream_gene_variant,,ENST00000484646,;	G	ENST00000310574	Transcript	synonymous_variant	798/3231	324/1908	108/635	L	ctG/ctC		1		-1	SLC5A6	HGNC	HGNC:11041	protein_coding	YES	CCDS1740.1	ENSP00000310208	Q9Y289		UPI000006DE33	NM_021095.2			3/17		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF140,TIGRFAM_domain:TIGR00813,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	27207327	27207327	C	G	1	0	0	0	0	0	0	0	1	14952	581	21	4		4	SLC5A6	2	27207327	Silent	SNP	C	C3L-00144_TP	57184	27207327	214986202	209	4488											
C2orf16	0	.	GRCh38	chr2	27579275	27579275	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggaatattttagggacCactatggaaaggaagctttg	12	11	13	5	0	0	0	0	0	0	0	0	4	0	4	1	5	1	1	1	5	6	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2703C>A	p.=	p.T901T	ENST00000408964	1/1	312	224	88	239	239	0	strelka-varscan-mutect	C2orf16,synonymous_variant,p.=,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271289.1,NM_001271318.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271287.1,NM_001271288.1;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000379717,;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,;	A	ENST00000408964	Transcript	synonymous_variant	2754/6199	2703/5955	901/1984	T	acC/acA		1		1	C2orf16	HGNC	HGNC:25275	protein_coding	YES	CCDS42666.1	ENSP00000386190	Q68DN1		UPI0000D61179	NM_032266.3			1/1		hmmpanther:PTHR33888																	LOW		SNV				1										PASS		.	.												A	2	1	12	27579275	27579275	C	A	1	0	0	0	0	0	0	0	1	2032	581	21	2		2	C2orf16	2	27579275	Silent	SNP	C	C3L-00144_TP	371948	27579275	214614254	210	4489											
BRE	0	.	GRCh38	chr2	27988074	27988074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgaattcctgccagaccCctcagctttgcaggtgagta	8	11	10	12	0	1	3	1	2	0	1	2	3	2	3	4	1	4	4	4	1	2	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.287C>A	p.Pro96His	p.P96H	ENST00000344773	4/13	285	232	53	240	239	1	strelka-varscan-mutect	BRE,missense_variant,p.Pro96His,ENST00000344773,NM_004899.4;BRE,missense_variant,p.Pro96His,ENST00000379632,NM_199193.2;BRE,missense_variant,p.Pro96His,ENST00000361704,NM_199192.2;BRE,missense_variant,p.Pro96His,ENST00000342045,NM_199194.2;BRE,missense_variant,p.Pro96His,ENST00000379624,NM_001261840.1,NM_199191.2;BRE,missense_variant,p.Pro96His,ENST00000436924,;BRE,missense_variant,p.Pro96His,ENST00000379629,;BRE,non_coding_transcript_exon_variant,,ENST00000603461,;BRE,missense_variant,p.Pro75His,ENST00000604932,;MRPL33,3_prime_UTR_variant,,ENST00000448427,;	A	ENST00000344773	Transcript	missense_variant	425/1852	287/1248	96/415	P/H	cCc/cAc		1		1	BRE	HGNC	HGNC:1106	protein_coding	YES	CCDS1764.1	ENSP00000343412	Q9NXR7		UPI0000072A9C	NM_004899.4	deleterious(0.02)		4/13		hmmpanther:PTHR15189:SF7,hmmpanther:PTHR15189,Pfam_domain:PF06113																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	27988074	27988074	C	A	1	0	0	0	0	1	0	0	0	1679	623	22	2		2	BRE	2	27988074	Missense_Mutation	SNP	C	C3L-00144_TP	408799	27988074	214205455	211	4490											
GALNT14	0	.	GRCh38	chr2	30911033	30911033	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggatgctatgtgctcGatgtgggaaccagttttggt	7	13	16	5	1	0	0	0	0	0	0	1	3	0	2	1	4	3	3	1	4	2	3	rs565883379		C3L-00144_TP	C3L-00144_NB	G	G																c.1542C>A	p.=	p.I514I	ENST00000324589	16/16	146	118	28	97	97	0	strelka-varscan-mutect	GALNT14,synonymous_variant,p.=,ENST00000349752,NM_024572.3;GALNT14,synonymous_variant,p.=,ENST00000406653,NM_001253827.1;GALNT14,synonymous_variant,p.=,ENST00000324589,NM_001253826.1;GALNT14,non_coding_transcript_exon_variant,,ENST00000486564,;GALNT14,non_coding_transcript_exon_variant,,ENST00000475320,;	T	ENST00000324589	Transcript	synonymous_variant	1603/2169	1542/1674	514/557	I	atC/atA	rs565883379,COSM3581055	1		-1	GALNT14	HGNC	HGNC:22946	protein_coding	YES	CCDS58706.1	ENSP00000314500	Q96FL9		UPI0000073A6F	NM_001253826.1			16/16		PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF8,Gene3D:2.80.10.50,Pfam_domain:PF00652,SMART_domains:SM00458,Superfamily_domains:SSF50370											0,1						LOW	1	SNV	2		0,1	1										PASS		rs565883379	.												T	2	4	12	30911033	30911033	G	T	1	0	0	0	0	0	0	0	1	6080	1048	37	1		1	GALNT14	2	30911033	Silent	SNP	G	C3L-00144_TP	2922959	30911033	211282496	212	4491											
VIT	0	.	GRCh38	chr2	36808906	36808906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtccaagcccaacaaGaggaagttaatgatcctcat	17	7	8	9	0	1	3	1	1	0	2	3	4	3	4	3	1	2	1	3	1	7	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1824G>T	p.Lys608Asn	p.K608N	ENST00000379242	15/16	120	106	14	111	111	0	strelka-varscan-mutect	VIT,missense_variant,p.Lys608Asn,ENST00000379242,NM_053276.3;VIT,missense_variant,p.Lys593Asn,ENST00000389975,NM_001177969.1;VIT,missense_variant,p.Lys262Asn,ENST00000497382,;VIT,missense_variant,p.Lys571Asn,ENST00000379241,NM_001177971.1;VIT,missense_variant,p.Lys545Asn,ENST00000404084,;VIT,missense_variant,p.Lys572Asn,ENST00000401530,NM_001177970.1;	T	ENST00000379242	Transcript	missense_variant	2126/2810	1824/2082	608/693	K/N	aaG/aaT		1		1	VIT	HGNC	HGNC:12697	protein_coding	YES	CCDS33180.1	ENSP00000368544	Q6UXI7		UPI000006E0F8	NM_053276.3	deleterious(0.04)		15/16		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF107,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	36808906	36808906	G	T	1	0	0	0	0	1	0	0	0	17718	933	33	2		2	VIT	2	36808906	Missense_Mutation	SNP	G	C3L-00144_TP	5897873	36808906	205384623	213	4492											
QPCT	0	.	GRCh38	chr2	37359616	37359616	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaggcttcaggctgacTgggtcttggaaatagacacc	10	10	12	9	0	3	3	2	1	1	2	3	4	3	4	1	4	0	2	1	4	2	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.304T>A	p.Trp102Arg	p.W102R	ENST00000338415	3/7	239	177	62	184	184	0	strelka-varscan-mutect	QPCT,missense_variant,p.Trp102Arg,ENST00000338415,NM_012413.3;QPCT,missense_variant,p.Trp53Arg,ENST00000404976,;QPCT,non_coding_transcript_exon_variant,,ENST00000470075,;QPCT,non_coding_transcript_exon_variant,,ENST00000480050,;	A	ENST00000338415	Transcript	missense_variant	462/1739	304/1086	102/361	W/R	Tgg/Agg		1		1	QPCT	HGNC	HGNC:9753	protein_coding	YES	CCDS1790.1	ENSP00000344829	Q16769		UPI000000DC4F	NM_012413.3	deleterious(0)		3/7		hmmpanther:PTHR12283,hmmpanther:PTHR12283:SF5,Gene3D:3.40.630.10,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	37359616	37359616	T	A	1	0	0	0	0	1	0	0	0	13029	1580	55	4		4	QPCT	2	37359616	Missense_Mutation	SNP	T	C3L-00144_TP	550710	37359616	204833913	214	4493											
SOS1	0	.	GRCh38	chr2	39023119	39023119	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattacaacactgtccaaTgtcttttccctcccaaccat	10	14	2	15	0	2	0	1	0	1	0	5	0	5	0	4	0	3	0	4	0	4	4			C3L-00144_TP	C3L-00144_NB	T	T																c.1309A>T	p.Ile437Phe	p.I437F	ENST00000426016	11/24	162	132	30	124	124	0	strelka-varscan-mutect	SOS1,missense_variant,p.Ile437Phe,ENST00000426016,;SOS1,missense_variant,p.Ile437Phe,ENST00000402219,NM_005633.3;SOS1,missense_variant,p.Ile437Phe,ENST00000395038,;SOS1,non_coding_transcript_exon_variant,,ENST00000472480,;SOS1,downstream_gene_variant,,ENST00000461545,;	A	ENST00000426016	Transcript	missense_variant	1396/8517	1309/4002	437/1333	I/F	Att/Ttt	COSM3702188	1		-1	SOS1	HGNC	HGNC:11187	protein_coding	YES	CCDS1802.1	ENSP00000387784	Q07889		UPI0000135CF0		deleterious(0)		11/24		hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF168,Gene3D:2.30.29.30,Superfamily_domains:SSF50729											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	12	39023119	39023119	T	A	1	0	0	0	0	1	0	0	0	15258	1464	51	4		4	SOS1	2	39023119	Missense_Mutation	SNP	T	C3L-00144_TP	1663503	39023119	203170410	215	4494											
ABCG5	0	.	GRCh38	chr2	43826400	43826400	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgaaaaagctcagaacgGggctggtgaatggtgagaac	14	6	14	7	1	1	4	1	3	0	2	1	5	1	4	1	4	3	2	1	4	5	0			C3L-00144_TP	C3L-00144_NB	G	G																c.756C>A	p.=	p.P252P	ENST00000260645	6/13	823	674	149	583	583	0	strelka-varscan-mutect	ABCG5,synonymous_variant,p.=,ENST00000260645,NM_022436.2;ABCG5,intron_variant,,ENST00000405322,;ABCG5,intron_variant,,ENST00000486512,;ABCG5,intron_variant,,ENST00000409962,;	T	ENST00000260645	Transcript	synonymous_variant	896/2740	756/1956	252/651	P	ccC/ccA	COSM382701	1		-1	ABCG5	HGNC	HGNC:13886	protein_coding	YES	CCDS1814.1	ENSP00000260645	Q9H222		UPI0000046560	NM_022436.2			6/13		PROSITE_profiles:PS50893,hmmpanther:PTHR19241:SF193,hmmpanther:PTHR19241,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	12	43826400	43826400	G	T	1	0	0	0	0	0	0	0	1	75	1219	43	2		2	ABCG5	2	43826400	Silent	SNP	G	C3L-00144_TP	4803281	43826400	198367129	216	4495											
ABCG8	0	.	GRCh38	chr2	43872280	43872280	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacgaagatgcctggggcGgtgcagcagtttacgacgct	8	8	14	11	4	0	1	0	0	0	1	0	3	0	1	2	3	5	4	2	3	3	3	rs148836748		C3L-00144_TP	C3L-00144_NB	G	G																c.1185G>T	p.=	p.A395A	ENST00000272286	8/13	627	486	141	612	610	2	strelka-varscan-mutect	ABCG8,synonymous_variant,p.=,ENST00000272286,NM_022437.2;	T	ENST00000272286	Transcript	synonymous_variant	1275/2665	1185/2022	395/673	A	gcG/gcT	rs148836748	1		1	ABCG8	HGNC	HGNC:13887	protein_coding	YES	CCDS1815.1	ENSP00000272286	Q9H221		UPI000004C4CD	NM_022437.2			8/13		hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF239																	LOW	1	SNV	1			1										PASS		rs148836748	.												T	2	4	12	43872280	43872280	G	T	1	0	0	0	0	0	0	0	1	76	1103	39	1		1	ABCG8	2	43872280	Silent	SNP	G	C3L-00144_TP	45880	43872280	198321249	217	4496											
SIX3	0	.	GRCh38	chr2	44942803	44942803	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacccctaccccaacccCagcaagaaacgcgaactggc	13	2	8	18	2	0	1	0	0	0	1	0	3	0	2	6	2	5	1	6	2	5	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.699C>A	p.=	p.P233P	ENST00000260653	1/2	311	263	48	189	189	0	strelka-varscan-mutect	SIX3,synonymous_variant,p.=,ENST00000260653,NM_005413.3;RP11-89K21.1,upstream_gene_variant,,ENST00000437916,;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;RP11-89K21.1,upstream_gene_variant,,ENST00000444871,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;Six3os1_7,downstream_gene_variant,,ENST00000621512,;Six3os1_6,downstream_gene_variant,,ENST00000620790,;	A	ENST00000260653	Transcript	synonymous_variant	906/2523	699/999	233/332	P	ccC/ccA		1		1	SIX3	HGNC	HGNC:10889	protein_coding	YES	CCDS1821.1	ENSP00000260653	O95343		UPI00001359C4	NM_005413.3			1/2		PROSITE_profiles:PS50071,hmmpanther:PTHR10390:SF31,hmmpanther:PTHR10390,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	44942803	44942803	C	A	1	0	0	0	0	0	0	0	1	14611	581	21	2		2	SIX3	2	44942803	Silent	SNP	C	C3L-00144_TP	1070523	44942803	197250726	218	4497											
ATP6V1E2	0	.	GRCh38	chr2	46512465	46512465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatttcgggctctcaggaCtttcagcctcgcctgattcc	5	13	9	14	2	3	1	3	1	1	0	7	2	4	2	3	2	1	1	3	2	0	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.247G>T	p.Val83Phe	p.V83F	ENST00000306448	2/2	175	130	45	130	130	0	strelka-varscan-mutect	ATP6V1E2,missense_variant,p.Val83Phe,ENST00000306448,NM_080653.3;ATP6V1E2,missense_variant,p.Val83Phe,ENST00000522587,NM_001318063.1;ATP6V1E2,intron_variant,,ENST00000524249,;	A	ENST00000306448	Transcript	missense_variant	1361/1979	247/681	83/226	V/F	Gtc/Ttc		1		-1	ATP6V1E2	HGNC	HGNC:18125	protein_coding	YES	CCDS1826.1	ENSP00000304891	Q96A05	A0A140VKA8	UPI0000073C6E	NM_080653.3	deleterious(0.01)		2/2		HAMAP:MF_00311,Pfam_domain:PF01991,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	46512465	46512465	C	A	1	0	0	0	0	1	0	0	0	1337	565	20	2		2	ATP6V1E2	2	46512465	Missense_Mutation	SNP	C	C3L-00144_TP	1569662	46512465	195681064	219	4498											
NRXN1	0	.	GRCh38	chr2	50531273	50531273	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctgcgtctagctccaggcgGagggtgtcagcagagtctct	6	9	14	12	2	3	1	1	0	2	1	5	2	4	2	2	3	3	2	2	3	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2421C>G	p.=	p.L807L	ENST00000404971	12/24	320	263	57	266	266	0	strelka-varscan-mutect	NRXN1,synonymous_variant,p.=,ENST00000406316,NM_004801.4;NRXN1,synonymous_variant,p.=,ENST00000625672,;NRXN1,synonymous_variant,p.=,ENST00000404971,NM_001135659.1;NRXN1,synonymous_variant,p.=,ENST00000401669,;NRXN1,synonymous_variant,p.=,ENST00000405472,;NRXN1,synonymous_variant,p.=,ENST00000630543,;NRXN1,synonymous_variant,p.=,ENST00000406859,;NRXN1,synonymous_variant,p.=,ENST00000402717,;NRXN1,intron_variant,,ENST00000495871,;NRXN1,non_coding_transcript_exon_variant,,ENST00000636298,;NRXN1,upstream_gene_variant,,ENST00000636342,;NRXN1,synonymous_variant,p.=,ENST00000331040,;NRXN1,upstream_gene_variant,,ENST00000474354,;	C	ENST00000404971	Transcript	synonymous_variant	3761/7578	2421/4644	807/1547	L	ctC/ctG		1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1			12/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	12	50531273	50531273	G	C	1	0	0	0	0	0	0	0	1	10724	1161	41	4		4	NRXN1	2	50531273	Silent	SNP	G	C3L-00144_TP	4018808	50531273	191662256	220	4499											
SPTBN1	0	.	GRCh38	chr2	54629501	54629501	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagaaacacaaggacgtGgcggaagagatcgccaatta	16	5	12	8	3	1	2	1	0	0	2	2	5	1	4	1	3	1	0	1	3	6	1	rs557898766		C3L-00144_TP	C3L-00144_NB	G	G																c.2367G>A	p.=	p.V789V	ENST00000356805	14/36	301	276	25	240	240	0	strelka-varscan-mutect	SPTBN1,synonymous_variant,p.=,ENST00000615901,;SPTBN1,synonymous_variant,p.=,ENST00000333896,NM_178313.2;SPTBN1,synonymous_variant,p.=,ENST00000356805,NM_003128.2;SPTBN1,downstream_gene_variant,,ENST00000389980,;	A	ENST00000356805	Transcript	synonymous_variant	2648/8482	2367/7095	789/2364	V	gtG/gtA	rs557898766	1		1	SPTBN1	HGNC	HGNC:11275	protein_coding	YES	CCDS33198.1	ENSP00000349259	Q01082	B2ZZ89	UPI0000DBEE4B	NM_003128.2			14/36		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF325,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	LOW	1	SNV	1			1										PASS		rs557898766	.												A	2	1	12	54629501	54629501	G	A	1	0	0	0	0	0	0	0	1	15475	1335	47	3		3	SPTBN1	2	54629501	Silent	SNP	G	C3L-00144_TP	4098228	54629501	187564028	221	4500											
CCDC85A	0	.	GRCh38	chr2	56193141	56193141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtgctgagtgggagccCggaacacttccagaagcacc	10	5	13	13	2	0	2	0	1	0	1	1	4	1	4	3	2	4	3	3	2	2	1	rs747483421		C3L-00144_TP	C3L-00144_NB	C	C																c.941C>A	p.Pro314Gln	p.P314Q	ENST00000407595	2/6	316	257	59	279	279	0	strelka-varscan-mutect	CCDC85A,missense_variant,p.Pro314Gln,ENST00000407595,NM_001080433.1;RP11-482H16.1,intron_variant,,ENST00000607540,;	A	ENST00000407595	Transcript	missense_variant	1443/3982	941/1662	314/553	P/Q	cCg/cAg	rs747483421	1		1	CCDC85A	HGNC	HGNC:29400	protein_coding	YES	CCDS46290.1	ENSP00000384040	Q96PX6		UPI00001C1DC1	NM_001080433.1	deleterious_low_confidence(0)		2/6		hmmpanther:PTHR13546,hmmpanther:PTHR13546:SF16																	MODERATE	1	SNV	1			1										PASS		rs747483421	.												A	3	1	12	56193141	56193141	C	A	1	0	0	0	0	1	0	0	0	2557	652	23	1		1	CCDC85A	2	56193141	Missense_Mutation	SNP	C	C3L-00144_TP	1563640	56193141	186000388	222	4501											
WDPCP	0	.	GRCh38	chr2	63484968	63484968	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgggcgtctgtttttgagCgtccaaggataatctcgtgc	6	14	12	9	3	3	1	0	1	3	0	5	2	4	2	1	2	2	1	1	2	2	3	rs370579497		C3L-00144_TP	C3L-00144_NB	C	C																c.273G>C	p.=	p.T91T	ENST00000272321	5/18	624	522	102	422	422	0	strelka-varscan-mutect	WDPCP,synonymous_variant,p.=,ENST00000409562,;WDPCP,synonymous_variant,p.=,ENST00000272321,NM_015910.5;WDPCP,synonymous_variant,p.=,ENST00000431065,;WDPCP,non_coding_transcript_exon_variant,,ENST00000409835,;WDPCP,non_coding_transcript_exon_variant,,ENST00000490935,;WDPCP,downstream_gene_variant,,ENST00000467687,;WDPCP,synonymous_variant,p.=,ENST00000418148,;WDPCP,3_prime_UTR_variant,,ENST00000417238,;WDPCP,upstream_gene_variant,,ENST00000493315,;	G	ENST00000272321	Transcript	synonymous_variant	801/3392	273/2241	91/746	T	acG/acC	rs370579497	1		-1	WDPCP	HGNC	HGNC:28027	protein_coding	YES	CCDS42688.1	ENSP00000272321	O95876		UPI000013D946	NM_015910.5			5/18		hmmpanther:PTHR13667:SF5,hmmpanther:PTHR13667,Pfam_domain:PF11768																	LOW	1	SNV	1			1										PASS		rs370579497	.												G	2	3	12	63484968	63484968	C	G	1	0	0	0	0	0	0	0	1	17833	755	27	4		4	WDPCP	2	63484968	Silent	SNP	C	C3L-00144_TP	7291827	63484968	178708561	223	4502											
MEIS1	0	.	GRCh38	chr2	66439902	66439902	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtgaattagctacttgtaCcccccgcgagccgggggtgg	7	9	14	11	3	0	1	0	1	0	0	0	2	0	1	4	3	4	2	4	3	4	4			C3L-00144_TP	C3L-00144_NB	C	C																c.299C>G	p.Thr100Ser	p.T100S	ENST00000272369	3/13	207	159	48	158	158	0	strelka-varscan-mutect	MEIS1,missense_variant,p.Thr100Ser,ENST00000488550,;MEIS1,missense_variant,p.Thr100Ser,ENST00000272369,NM_002398.2;MEIS1,missense_variant,p.Thr98Ser,ENST00000398506,;MEIS1,missense_variant,p.Thr35Ser,ENST00000495021,;MEIS1,missense_variant,p.Thr100Ser,ENST00000560281,;MEIS1,upstream_gene_variant,,ENST00000437869,;MEIS1-AS2,intron_variant,,ENST00000439433,;MEIS1-AS2,intron_variant,,ENST00000454595,;MEIS1,non_coding_transcript_exon_variant,,ENST00000490726,;MEIS1,non_coding_transcript_exon_variant,,ENST00000496248,;MEIS1,upstream_gene_variant,,ENST00000606455,;MEIS1,upstream_gene_variant,,ENST00000409622,;MEIS1,upstream_gene_variant,,ENST00000466811,;MEIS1,intron_variant,,ENST00000491706,;MEIS1,upstream_gene_variant,,ENST00000498705,;	G	ENST00000272369	Transcript	missense_variant	756/4291	299/1173	100/390	T/S	aCc/aGc	COSM1409013,COSM3055415	1		1	MEIS1	HGNC	HGNC:7000	protein_coding	YES	CCDS46309.1	ENSP00000272369	O00470		UPI000000DA5A	NM_002398.2	tolerated(0.54)		3/13		hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF126											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	12	66439902	66439902	C	G	1	0	0	0	0	1	0	0	0	9411	507	18	4		4	MEIS1	2	66439902	Missense_Mutation	SNP	C	C3L-00144_TP	2954934	66439902	175753627	224	4503											
ATP6V1B1	0	.	GRCh38	chr2	70961694	70961694	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttggccaatgaccccacGtgagctttccctgatgccca	9	9	8	15	1	0	3	0	3	0	0	1	3	1	3	5	1	3	1	5	1	2	2	rs727504746		C3L-00144_TP	C3L-00144_NB	G	G																c.785+1G>T		p.X262_splice	ENST00000234396		473	409	64	319	318	1	strelka-varscan-mutect	ATP6V1B1,splice_donor_variant,,ENST00000234396,NM_001692.3;ATP6V1B1,splice_donor_variant,,ENST00000412314,;AC007040.11,intron_variant,,ENST00000606025,;ATP6V1B1,downstream_gene_variant,,ENST00000454446,;ATP6V1B1,downstream_gene_variant,,ENST00000432098,;ATP6V1B1,upstream_gene_variant,,ENST00000433895,;RN7SL160P,upstream_gene_variant,,ENST00000468558,;ATP6V1B1,splice_donor_variant,,ENST00000432367,;ATP6V1B1,non_coding_transcript_exon_variant,,ENST00000495118,;AC007040.11,intron_variant,,ENST00000453130,;ATP6V1B1,downstream_gene_variant,,ENST00000463380,;	T	ENST00000234396	Transcript	splice_donor_variant	-/1891	785/1542	262/513			rs727504746,CS991327,COSM721955	1		1	ATP6V1B1	HGNC	HGNC:853	protein_coding	YES	CCDS1912.1	ENSP00000234396	P15313		UPI000013C9A0	NM_001692.3				8/13											pathogenic	0,0,1						HIGH	1	SNV	1		1,1,1	1										PASS		rs727504746	.												T	5	4	12	70961694	70961694	G	T	1	0	0	0	0	0	0	1	0	1331	1159	40	1		1	ATP6V1B1	2	70961694	Splice_Site	SNP	G	C3L-00144_TP	4521792	70961694	171231835	225	4504											
ZNF638	0	.	GRCh38	chr2	71349100	71349101	+	Frame_Shift_Ins	INS	-	-	T																															tacccagcagggagagcacgINStggaattccacacagatttg																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.147dupT	p.Gly50TrpfsTer10	p.G50Wfs*10	ENST00000409544	2/28	161	123	38	131	131	0	sindel-varindel-pindel	ZNF638,frameshift_variant,p.Gly50TrpfsTer10,ENST00000409544,NM_001252612.1;ZNF638,frameshift_variant,p.Gly50TrpfsTer10,ENST00000264447,NM_014497.4,NM_001014972.2,NM_001252613.1;ZNF638,frameshift_variant,p.Gly50TrpfsTer10,ENST00000410075,;ZNF638,frameshift_variant,p.Gly50TrpfsTer10,ENST00000437658,;ZNF638,frameshift_variant,p.Gly50TrpfsTer10,ENST00000454278,;ZNF638,frameshift_variant,p.Gly50TrpfsTer10,ENST00000455226,;ZNF638,intron_variant,,ENST00000494621,;ZNF638,intron_variant,,ENST00000466330,;ZNF638,intron_variant,,ENST00000464375,;ZNF638,intron_variant,,ENST00000475743,;ZNF638,intron_variant,,ENST00000466975,;ZNF638,downstream_gene_variant,,ENST00000417778,;ZNF638,downstream_gene_variant,,ENST00000454122,;ZNF638,downstream_gene_variant,,ENST00000487707,;	T	ENST00000409544	Transcript	frameshift_variant	776-777/6821	146-147/5937	49/1978	R/RX	cgt/cgTt		1		1	ZNF638	HGNC	HGNC:17894	protein_coding	YES	CCDS1917.1	ENSP00000386433	Q14966		UPI000013D51B	NM_001252612.1			2/28		hmmpanther:PTHR15592,hmmpanther:PTHR15592:SF1																	HIGH	1	insertion	1	1		1										PASS		.	.												T	7	5	12	71349100	71349100	-	T	1	0	1	1	0	0	0	0	0	18630	1145	40	0		0	ZNF638	2	71349100	Frame_Shift_Ins	INS	-	C3L-00144_TP	387406	71349100	170844429	226	4505											
DYSF	0	.	GRCh38	chr2	71551152	71551152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacacagagctcaacacagGcaaggtaagccggctggagc	13	4	12	12	1	1	1	1	0	0	1	1	2	1	2	1	4	5	4	1	4	4	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1688G>T	p.Gly563Val	p.G563V	ENST00000410020	18/56	590	492	98	431	431	0	strelka-varscan-mutect	DYSF,missense_variant,p.Gly545Val,ENST00000258104,NM_003494.3,NM_001130976.1;DYSF,missense_variant,p.Gly562Val,ENST00000409582,NM_001130981.1,NM_001130977.1;DYSF,missense_variant,p.Gly576Val,ENST00000413539,NM_001130979.1;DYSF,missense_variant,p.Gly545Val,ENST00000429174,NM_001130978.1;DYSF,missense_variant,p.Gly562Val,ENST00000409762,NM_001130980.1;DYSF,missense_variant,p.Gly563Val,ENST00000410020,NM_001130987.1;DYSF,missense_variant,p.Gly577Val,ENST00000409651,NM_001130982.1;DYSF,missense_variant,p.Gly546Val,ENST00000409366,NM_001130983.1;DYSF,missense_variant,p.Gly563Val,ENST00000410041,NM_001130985.1;DYSF,missense_variant,p.Gly532Val,ENST00000409744,NM_001130984.1,NM_001130986.1;DYSF,missense_variant,p.Gly546Val,ENST00000394120,NM_001130455.1;	T	ENST00000410020	Transcript	missense_variant	1829/6657	1688/6360	563/2119	G/V	gGc/gTc		1		1	DYSF	HGNC	HGNC:3097	protein_coding	YES	CCDS46328.1	ENSP00000386881	O75923		UPI000171F710	NM_001130987.1	deleterious(0)		18/56		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF33																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	71551152	71551152	G	T	1	0	0	0	0	1	0	0	0	4683	1217	42	2		2	DYSF	2	71551152	Missense_Mutation	SNP	G	C3L-00144_TP	202052	71551152	170642377	227	4506											
DGUOK	0	.	GRCh38	chr2	73926947	73926947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttctaagtcggcttcgaGcacccttcagttccatggcc	6	13	8	14	2	3	0	1	0	2	0	6	1	4	0	3	2	1	3	3	2	1	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.37G>T	p.Ala13Ser	p.A13S	ENST00000264093	1/7	527	402	125	402	399	3	strelka-varscan-mutect	DGUOK,missense_variant,p.Ala13Ser,ENST00000264093,NM_080916.2;DGUOK,missense_variant,p.Ala13Ser,ENST00000629438,NM_001318860.1,NM_001318863.1;DGUOK,missense_variant,p.Ala13Ser,ENST00000348222,NM_001318859.1,NM_080918.2;DGUOK,non_coding_transcript_exon_variant,,ENST00000462685,;DGUOK,non_coding_transcript_exon_variant,,ENST00000489796,;DGUOK,non_coding_transcript_exon_variant,,ENST00000493055,;DGUOK,non_coding_transcript_exon_variant,,ENST00000462551,;DGUOK,missense_variant,p.Ala13Ser,ENST00000418996,;	T	ENST00000264093	Transcript	missense_variant	122/1144	37/834	13/277	A/S	Gca/Tca		1		1	DGUOK	HGNC	HGNC:2858	protein_coding	YES	CCDS1931.1	ENSP00000264093	Q16854	E5KSL5	UPI000012921F	NM_080916.2	tolerated(0.08)		1/7		hmmpanther:PTHR10513,hmmpanther:PTHR10513:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	73926947	73926947	G	T	1	0	0	0	0	1	0	0	0	4281	971	34	2		2	DGUOK	2	73926947	Missense_Mutation	SNP	G	C3L-00144_TP	2375795	73926947	168266582	228	4507											
TLX2	0	.	GRCh38	chr2	74515015	74515015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggctcacttgccccgctgcCcggcagctccggagtgggcc	3	6	14	18	4	1	0	1	0	0	0	2	1	2	1	5	4	3	4	5	4	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.209C>A	p.Pro70His	p.P70H	ENST00000233638	1/3	144	118	26	110	110	0	strelka-varscan-mutect	TLX2,missense_variant,p.Pro70His,ENST00000233638,NM_016170.4;TLX2,intron_variant,,ENST00000621092,;DQX1,downstream_gene_variant,,ENST00000404568,NM_133637.2;DQX1,downstream_gene_variant,,ENST00000393951,;TLX2,splice_region_variant,,ENST00000497238,;DQX1,downstream_gene_variant,,ENST00000473508,;DQX1,downstream_gene_variant,,ENST00000418139,;DQX1,downstream_gene_variant,,ENST00000483555,;TLX2,downstream_gene_variant,,ENST00000464417,;	A	ENST00000233638	Transcript	missense_variant	532/2136	209/855	70/284	P/H	cCc/cAc		1		1	TLX2	HGNC	HGNC:5057	protein_coding	YES	CCDS1947.1	ENSP00000233638	O43763		UPI0000137060	NM_016170.4	deleterious(0.04)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF117																	MODERATE	1	SNV	1			1										PASS		rs1418051462	.												A	3	1	12	74515015	74515015	C	A	1	0	0	0	0	1	0	0	0	16406	623	22	2		2	TLX2	2	74515015	Missense_Mutation	SNP	C	C3L-00144_TP	588068	74515015	167678514	229	4508											
SEMA4F	0	.	GRCh38	chr2	74679876	74679876	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccgggcccacacagtgggGgcgggactggctggcttctt	5	7	17	12	2	1	0	0	0	1	0	1	1	1	1	2	6	1	2	2	6	0	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1980G>T	p.=	p.G660G	ENST00000357877	14/14	241	174	67	194	193	1	strelka-varscan-mutect	SEMA4F,synonymous_variant,p.=,ENST00000611975,NM_001271662.1;SEMA4F,synonymous_variant,p.=,ENST00000357877,NM_004263.4;SEMA4F,synonymous_variant,p.=,ENST00000339773,NM_001271661.1;SEMA4F,non_coding_transcript_exon_variant,,ENST00000473350,;SEMA4F,3_prime_UTR_variant,,ENST00000446927,;SEMA4F,3_prime_UTR_variant,,ENST00000420077,;	T	ENST00000357877	Transcript	synonymous_variant	2129/4312	1980/2313	660/770	G	ggG/ggT		1		1	SEMA4F	HGNC	HGNC:10734	protein_coding	YES	CCDS1955.1	ENSP00000350547	O95754		UPI0000001BF5	NM_004263.4			14/14		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF72																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	74679876	74679876	G	T	1	0	0	0	0	0	0	0	1	14311	1219	43	2		2	SEMA4F	2	74679876	Silent	SNP	G	C3L-00144_TP	164861	74679876	167513653	230	4509											
REG3G	0	.	GRCh38	chr2	79026806	79026806	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctatgccttgtttttgtCaccaaaatcctggatggatg	8	15	9	9	0	1	0	1	0	0	0	2	2	2	2	3	2	2	2	3	2	3	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.170C>A	p.Ser57Ter	p.S57*	ENST00000272324	3/6	134	100	34	125	125	0	strelka-varscan-mutect	REG3G,stop_gained,p.Ser57Ter,ENST00000272324,NM_001008387.2;REG3G,stop_gained,p.Ser57Ter,ENST00000393897,NM_198448.3;REG3G,stop_gained,p.Ser57Ter,ENST00000409471,NM_001270040.1;REG3G,non_coding_transcript_exon_variant,,ENST00000490944,;REG3G,non_coding_transcript_exon_variant,,ENST00000498312,;	A	ENST00000272324	Transcript	stop_gained	354/938	170/528	57/175	S/*	tCa/tAa		1		1	REG3G	HGNC	HGNC:29595	protein_coding	YES	CCDS1962.1	ENSP00000272324	Q6UW15		UPI0000048F1E	NM_001008387.2			3/6		PROSITE_profiles:PS50041,hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF60,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	79026806	79026806	C	A	1	0	0	0	0	0	1	0	0	13383	838	29	2		2	REG3G	2	79026806	Nonsense_Mutation	SNP	C	C3L-00144_TP	4346930	79026806	163166723	231	4510											
REG1B	0	.	GRCh38	chr2	79085562	79085562	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccagtgtcccaggacttGtaggagaccagggacccact	10	7	12	12	0	0	1	0	0	0	1	2	5	2	3	4	3	0	1	4	3	1	2			C3L-00144_TP	C3L-00144_NB	G	G																c.363C>A	p.Tyr121Ter	p.Y121*	ENST00000305089	5/6	217	165	52	175	175	0	strelka-varscan-mutect	REG1B,stop_gained,p.Tyr121Ter,ENST00000305089,NM_006507.3;REG1B,stop_gained,p.Tyr72Ter,ENST00000454188,;REG1B,non_coding_transcript_exon_variant,,ENST00000479258,;REG1B,downstream_gene_variant,,ENST00000476554,;REG1B,downstream_gene_variant,,ENST00000469052,;	T	ENST00000305089	Transcript	stop_gained	444/767	363/501	121/166	Y/*	taC/taA	COSM443252	1		-1	REG1B	HGNC	HGNC:9952	protein_coding	YES	CCDS1963.1	ENSP00000303206	P48304	Q6ICS1	UPI00000012AB	NM_006507.3			5/6		PROSITE_profiles:PS50041,hmmpanther:PTHR22801:SF55,hmmpanther:PTHR22801,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	12	79085562	79085562	G	T	1	0	0	0	0	0	1	0	0	13381	1372	48	2		2	REG1B	2	79085562	Nonsense_Mutation	SNP	G	C3L-00144_TP	58756	79085562	163107967	232	4511											
CTNNA2	0	.	GRCh38	chr2	80545041	80545041	+	Frame_Shift_Del	DEL	G	G	-																															ggggtgaaattagttcggatGgcagccacccagattgacag																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1351delG	p.Ala451GlnfsTer17	p.A451Qfs*17	ENST00000402739	9/18	187	162	25	167	167	0	sindel-varindel-pindel	CTNNA2,frameshift_variant,p.Ala451GlnfsTer17,ENST00000466387,;CTNNA2,frameshift_variant,p.Ala451GlnfsTer17,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,frameshift_variant,p.Ala451GlnfsTer17,ENST00000402739,NM_001282597.2;CTNNA2,frameshift_variant,p.Ala451GlnfsTer17,ENST00000629316,NM_001164883.1;CTNNA2,frameshift_variant,p.Ala67GlnfsTer17,ENST00000361291,NM_001320810.1;CTNNA2,frameshift_variant,p.Ala130GlnfsTer17,ENST00000343114,NM_001282599.1;CTNNA2,frameshift_variant,p.Ala83GlnfsTer17,ENST00000541047,NM_001282600.1;CTNNA2,frameshift_variant,p.Ala67GlnfsTer17,ENST00000540488,;CTNNA2,frameshift_variant,p.Ala116GlnfsTer17,ENST00000409550,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000493024,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000465616,;	-	ENST00000402739	Transcript	frameshift_variant	1355/3684	1350/2862	450/953	M/X	atG/at		1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2			9/18		Gene3D:1.20.120.230,Pfam_domain:PF01044,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Superfamily_domains:SSF47220																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	12	80545041	80545041	G	-	1	0	1	0	1	0	0	0	0	3822	1348	47	0		0	CTNNA2	2	80545041	Frame_Shift_Del	DEL	G	C3L-00144_TP	1459479	80545041	161648488	233	4512											
CTNNA2	0	.	GRCh38	chr2	80555847	80555847	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaactatgaagctggggtTtatactgagaaggtgttgga	12	11	15	3	0	0	3	0	2	0	2	0	6	0	4	0	4	3	3	0	4	6	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1695T>A	p.=	p.V565V	ENST00000402739	11/18	68	51	17	56	56	0	strelka-varscan-mutect	CTNNA2,synonymous_variant,p.=,ENST00000466387,;CTNNA2,synonymous_variant,p.=,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,synonymous_variant,p.=,ENST00000402739,NM_001282597.2;CTNNA2,synonymous_variant,p.=,ENST00000629316,NM_001164883.1;CTNNA2,synonymous_variant,p.=,ENST00000361291,NM_001320810.1;CTNNA2,synonymous_variant,p.=,ENST00000343114,NM_001282599.1;CTNNA2,synonymous_variant,p.=,ENST00000541047,NM_001282600.1;CTNNA2,synonymous_variant,p.=,ENST00000540488,;CTNNA2,downstream_gene_variant,,ENST00000409550,;	A	ENST00000402739	Transcript	synonymous_variant	1700/3684	1695/2862	565/953	V	gtT/gtA		1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2			11/18		Gene3D:1.20.120.230,Pfam_domain:PF01044,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Superfamily_domains:SSF47220																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	80555847	80555847	T	A	1	0	0	0	0	0	0	0	1	3822	1828	64	4		4	CTNNA2	2	80555847	Silent	SNP	T	C3L-00144_TP	10806	80555847	161637682	234	4513											
FOXI3	0	.	GRCh38	chr2	88448363	88448363	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctattgctggtgctattGctcagttgcaaggtgtctgc	5	15	13	8	0	2	0	1	0	1	0	2	0	2	0	0	2	6	6	0	2	3	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1107C>T	p.=	p.S369S	ENST00000428390	2/2	439	330	109	354	352	2	strelka-varscan-mutect	FOXI3,synonymous_variant,p.=,ENST00000428390,NM_001135649.1;	A	ENST00000428390	Transcript	synonymous_variant	1228/2804	1107/1263	369/420	S	agC/agT		1		-1	FOXI3	HGNC	HGNC:35123	protein_coding	YES	CCDS77433.1	ENSP00000478384	A8MTJ6		UPI0001812296	NM_001135649.1			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF137																	LOW	1	SNV	3			1										PASS		.	.												A	2	1	12	88448363	88448363	G	A	1	0	0	0	0	0	0	0	1	5873	1310	46	3		3	FOXI3	2	88448363	Silent	SNP	G	C3L-00144_TP	7892516	88448363	153745166	235	4514											
TBC1D8	0	.	GRCh38	chr2	101050633	101050633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatcaacccacggaaccaCaagtttaactgtaagagaaa	18	7	7	9	1	1	1	1	0	0	1	1	4	1	2	2	1	3	2	2	1	7	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.595G>T	p.Val199Leu	p.V199L	ENST00000376840	5/20	108	73	35	94	94	0	strelka-varscan-mutect	TBC1D8,missense_variant,p.Val214Leu,ENST00000409318,;TBC1D8,missense_variant,p.Val199Leu,ENST00000376840,NM_001102426.1;	A	ENST00000376840	Transcript	missense_variant	595/3627	595/3423	199/1140	V/L	Gtg/Ttg		1		-1	TBC1D8	HGNC	HGNC:17791	protein_coding	YES	CCDS46375.1	ENSP00000366036	O95759		UPI00015ADD19	NM_001102426.1	tolerated(0.08)		5/20		Pfam_domain:PF02893,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF260,SMART_domains:SM00568																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	101050633	101050633	C	A	1	0	0	0	0	1	0	0	0	16030	478	17	2		2	TBC1D8	2	101050633	Missense_Mutation	SNP	C	C3L-00144_TP	12602270	101050633	141142896	236	4515											
RNF149	0	.	GRCh38	chr2	101308243	101308243	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgaaggtgcagccccCacgagccaccagggcgaccc	8	4	12	17	2	0	1	0	1	0	0	1	3	1	1	6	2	3	1	6	2	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.346G>T	p.Gly116Trp	p.G116W	ENST00000295317	1/7	307	235	72	252	252	0	strelka-varscan-mutect	RNF149,missense_variant,p.Gly116Trp,ENST00000295317,NM_173647.3;MIR5696,upstream_gene_variant,,ENST00000578474,;RNF149,missense_variant,p.Gly116Trp,ENST00000424632,;	A	ENST00000295317	Transcript	missense_variant	454/2458	346/1203	116/400	G/W	Ggg/Tgg		1		-1	RNF149	HGNC	HGNC:23137	protein_coding	YES	CCDS2051.1	ENSP00000295317	Q8NC42		UPI0000366F4A	NM_173647.3	deleterious(0)		1/7		Gene3D:3.50.30.30,Pfam_domain:PF02225,hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF39,Superfamily_domains:SSF52025																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	101308243	101308243	C	A	1	0	0	0	0	1	0	0	0	13628	594	21	2		2	RNF149	2	101308243	Missense_Mutation	SNP	C	C3L-00144_TP	257610	101308243	140885286	237	4516											
SLC9A4	0	.	GRCh38	chr2	102479212	102479212	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccgtggacccagtggcCgtgctagccgtgtttgagga	5	9	15	12	4	0	1	0	1	0	0	1	3	1	3	5	3	2	2	5	3	1	2	rs766734898		C3L-00144_TP	C3L-00144_NB	C	C																c.630C>A	p.=	p.A210A	ENST00000295269	2/12	371	275	96	271	270	1	strelka-varscan-mutect	SLC9A4,synonymous_variant,p.=,ENST00000295269,NM_001011552.3;	A	ENST00000295269	Transcript	synonymous_variant	1087/4138	630/2397	210/798	A	gcC/gcA	rs766734898	1		1	SLC9A4	HGNC	HGNC:11077	protein_coding	YES	CCDS33264.1	ENSP00000295269	Q6AI14		UPI000047F996	NM_001011552.3			2/12		Pfam_domain:PF00999,Prints_domain:PR01084,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF103,TIGRFAM_domain:TIGR00840,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs766734898	.												A	2	1	12	102479212	102479212	C	A	1	0	0	0	0	0	0	0	1	14998	639	23	1		1	SLC9A4	2	102479212	Silent	SNP	C	C3L-00144_TP	1170969	102479212	139714317	238	4517											
MFSD9	0	.	GRCh38	chr2	102736695	102736695	+	Missense_Mutation	SNP	G	G	A																															ggaagcggcgggctccgacgGcaccggagtcggcagcctcc																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.116C>T	p.Ala39Val	p.A39V	ENST00000258436	1/6	407	356	51	320	320	0	strelka-varscan-mutect	MFSD9,missense_variant,p.Ala39Val,ENST00000258436,NM_032718.3;TMEM182,upstream_gene_variant,,ENST00000409173,;TMEM182,upstream_gene_variant,,ENST00000409528,;TMEM182,upstream_gene_variant,,ENST00000454536,;TMEM182,upstream_gene_variant,,ENST00000469971,;TMEM182,upstream_gene_variant,,ENST00000488134,;MFSD9,missense_variant,p.Ala39Val,ENST00000438943,;MFSD9,missense_variant,p.Ala39Val,ENST00000437075,;MFSD9,missense_variant,p.Ala39Val,ENST00000411991,;MFSD9,missense_variant,p.Ala39Val,ENST00000421966,;MFSD9,non_coding_transcript_exon_variant,,ENST00000462099,;MFSD9,upstream_gene_variant,,ENST00000428085,;	A	ENST00000258436	Transcript	missense_variant	160/4049	116/1425	39/474	A/V	gCc/gTc		1		-1	MFSD9	HGNC	HGNC:28158	protein_coding	YES	CCDS2063.1	ENSP00000258436	Q8NBP5		UPI0000070215	NM_032718.3	deleterious_low_confidence(0.02)		1/6		hmmpanther:PTHR23504,hmmpanther:PTHR23504:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	102736695	102736695	G	A	1	0	0	0	0	1	0	0	0	9497	1203	42	3		3	MFSD9	2	102736695	Missense_Mutation	SNP	G	C3L-00144_TP	257483	102736695	139456834	239	4518	103	2									
MFSD9	0	.	GRCh38	chr2	102736696	102736696	+	Missense_Mutation	SNP	C	C	A																															gaagcggcgggctccgacggCaccggagtcggcagcctccg																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.115G>T	p.Ala39Ser	p.A39S	ENST00000258436	1/6	403	347	56	317	317	0	strelka-varscan-mutect	MFSD9,missense_variant,p.Ala39Ser,ENST00000258436,NM_032718.3;TMEM182,upstream_gene_variant,,ENST00000409173,;TMEM182,upstream_gene_variant,,ENST00000409528,;TMEM182,upstream_gene_variant,,ENST00000454536,;TMEM182,upstream_gene_variant,,ENST00000469971,;TMEM182,upstream_gene_variant,,ENST00000488134,;MFSD9,missense_variant,p.Ala39Ser,ENST00000438943,;MFSD9,missense_variant,p.Ala39Ser,ENST00000437075,;MFSD9,missense_variant,p.Ala39Ser,ENST00000411991,;MFSD9,missense_variant,p.Ala39Ser,ENST00000421966,;MFSD9,non_coding_transcript_exon_variant,,ENST00000462099,;MFSD9,upstream_gene_variant,,ENST00000428085,;	A	ENST00000258436	Transcript	missense_variant	159/4049	115/1425	39/474	A/S	Gcc/Tcc		1		-1	MFSD9	HGNC	HGNC:28158	protein_coding	YES	CCDS2063.1	ENSP00000258436	Q8NBP5		UPI0000070215	NM_032718.3	tolerated_low_confidence(0.15)		1/6		hmmpanther:PTHR23504,hmmpanther:PTHR23504:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	102736696	102736696	C	A	1	0	0	0	0	1	0	0	0	9497	710	25	2		2	MFSD9	2	102736696	Missense_Mutation	SNP	C	C3L-00144_TP	1	102736696	139456833	240	4519	103	2									
POU3F3	0	.	GRCh38	chr2	104856577	104856577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actctacggcaacgtgttctCgcagaccaccatctgccgct	8	9	8	16	4	3	1	0	0	3	1	4	1	3	1	3	1	3	4	3	1	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1067C>T	p.Ser356Leu	p.S356L	ENST00000361360	1/1	389	368	21	296	296	0	varscan-mutect	POU3F3,missense_variant,p.Ser356Leu,ENST00000361360,NM_006236.1;RP11-13J10.1,intron_variant,,ENST00000598623,;LINC01158,upstream_gene_variant,,ENST00000447876,;	T	ENST00000361360	Transcript	missense_variant	1067/3064	1067/1503	356/500	S/L	tCg/tTg		1		1	POU3F3	HGNC	HGNC:9216	protein_coding	YES	CCDS33265.1	ENSP00000355001	P20264		UPI0000131D87	NM_006236.1	deleterious(0)		1/1		Gene3D:1.10.260.40,Pfam_domain:PF00157,PIRSF_domain:PIRSF002629,Prints_domain:PR00028,PROSITE_patterns:PS00465,PROSITE_profiles:PS51179,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF73,SMART_domains:SM00352,Superfamily_domains:SSF47413																	MODERATE		SNV				1										PASS		.	.												T	3	4	12	104856577	104856577	C	T	1	0	0	0	0	1	0	0	0	12392	893	31	1		1	POU3F3	2	104856577	Missense_Mutation	SNP	C	C3L-00144_TP	2119881	104856577	137336952	241	4520											
TGFBRAP1	0	.	GRCh38	chr2	105269486	105269486	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagccacggccagctcgTgggcagtggggccagcatgc	6	4	17	14	3	0	0	0	0	0	0	1	0	0	0	3	5	4	4	3	5	0	0	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2192A>G	p.His731Arg	p.H731R	ENST00000393359	11/12	139	96	43	113	113	0	strelka-varscan-mutect	TGFBRAP1,missense_variant,p.His731Arg,ENST00000393359,NM_001142621.2,NM_004257.5;TGFBRAP1,missense_variant,p.His731Arg,ENST00000595531,;TGFBRAP1,missense_variant,p.His731Arg,ENST00000258449,;	C	ENST00000393359	Transcript	missense_variant	2619/5979	2192/2583	731/860	H/R	cAc/cGc		1		-1	TGFBRAP1	HGNC	HGNC:16836	protein_coding	YES	CCDS2067.1	ENSP00000377027	Q8WUH2		UPI0000072CA9	NM_001142621.2,NM_004257.5	tolerated(0.49)		11/12		hmmpanther:PTHR12894:SF17,hmmpanther:PTHR12894																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	105269486	105269486	T	C	1	0	0	0	0	1	0	0	0	16257	1696	59	5		5	TGFBRAP1	2	105269486	Missense_Mutation	SNP	T	C3L-00144_TP	412909	105269486	136924043	242	4521											
FHL2	0	.	GRCh38	chr2	105373665	105373665	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaaagggcttgtccacCagtgagtttctgcactgcga	9	9	12	11	1	1	1	0	1	1	0	2	2	2	1	2	1	3	5	2	1	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.225G>T	p.=	p.L75L	ENST00000409807	3/6	550	459	91	412	411	1	strelka-varscan-mutect	FHL2,synonymous_variant,p.=,ENST00000409177,;FHL2,synonymous_variant,p.=,ENST00000344213,NM_001318895.1;FHL2,synonymous_variant,p.=,ENST00000409807,;FHL2,synonymous_variant,p.=,ENST00000393353,NM_001450.3;FHL2,synonymous_variant,p.=,ENST00000322142,NM_001039492.2,NM_201555.1;FHL2,synonymous_variant,p.=,ENST00000393352,NM_201557.3;FHL2,synonymous_variant,p.=,ENST00000408995,NM_001318896.1;FHL2,intron_variant,,ENST00000358129,NM_001318898.1;AC012360.6,intron_variant,,ENST00000457290,;AC012360.6,upstream_gene_variant,,ENST00000415627,;FHL2,3_prime_UTR_variant,,ENST00000530340,;FHL2,3_prime_UTR_variant,,ENST00000452732,;	A	ENST00000409807	Transcript	synonymous_variant	560/1601	225/840	75/279	L	ctG/ctT		1		-1	FHL2	HGNC	HGNC:3703	protein_coding	YES	CCDS2070.1	ENSP00000386665	Q14192	Q6I9R8	UPI0000140D45				3/6		PROSITE_profiles:PS50023,hmmpanther:PTHR24205:SF3,hmmpanther:PTHR24205,PROSITE_patterns:PS00478,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	105373665	105373665	C	A	1	0	0	0	0	0	0	0	1	5744	581	21	2		2	FHL2	2	105373665	Silent	SNP	C	C3L-00144_TP	104179	105373665	136819864	243	4522											
ST6GAL2	0	.	GRCh38	chr2	106843220	106843220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgcggctccgcagctggCacagcagctgtgccctgctc	4	6	14	17	4	0	0	0	0	0	0	2	0	1	0	2	2	5	7	2	2	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.758G>T	p.Cys253Phe	p.C253F	ENST00000409382	2/6	68	51	17	83	83	0	strelka-varscan-mutect	ST6GAL2,missense_variant,p.Cys253Phe,ENST00000409382,NM_001142351.1;ST6GAL2,missense_variant,p.Cys253Phe,ENST00000361686,NM_001322362.1,NM_032528.2;ST6GAL2,missense_variant,p.Cys253Phe,ENST00000409087,NM_001142352.1;ST6GAL2,downstream_gene_variant,,ENST00000419159,;AC016994.2,downstream_gene_variant,,ENST00000425419,;	A	ENST00000409382	Transcript	missense_variant	1369/7275	758/1590	253/529	C/F	tGc/tTc		1		-1	ST6GAL2	HGNC	HGNC:10861	protein_coding	YES	CCDS2073.1	ENSP00000386942	Q96JF0		UPI000007477B	NM_001142351.1			2/6		hmmpanther:PTHR13713:SF61,hmmpanther:PTHR13713																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	106843220	106843220	C	A	1	0	0	0	0	1	0	0	0	15600	710	25	2		2	ST6GAL2	2	106843220	Missense_Mutation	SNP	C	C3L-00144_TP	1469555	106843220	135350309	244	4523											
RGPD4	0	.	GRCh38	chr2	107854570	107854570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaggttccaagaccaaaGattaaattaataaaaggtga	19	11	7	4	0	0	3	0	1	0	2	1	3	1	3	2	2	0	1	2	2	9	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.993G>T	p.Lys331Asn	p.K331N	ENST00000408999	8/23	65	53	12	59	59	0	varscan-mutect	RGPD4,missense_variant,p.Lys331Asn,ENST00000408999,NM_182588.2;	T	ENST00000408999	Transcript	missense_variant	1070/5464	993/5277	331/1758	K/N	aaG/aaT		1		1	RGPD4	HGNC	HGNC:32417	protein_coding	YES	CCDS46381.1	ENSP00000386810	Q7Z3J3		UPI0000418FF7	NM_182588.2	deleterious(0)		8/23		hmmpanther:PTHR23138:SF86,hmmpanther:PTHR23138																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	107854570	107854570	G	T	1	0	0	0	0	1	0	0	0	13460	933	33	2		2	RGPD4	2	107854570	Missense_Mutation	SNP	G	C3L-00144_TP	1011350	107854570	134338959	245	4524											
SEPT10	0	.	GRCh38	chr2	109585173	109585173	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcccactgtattcacaatGgtcaatttcaattgaacatt	14	14	4	9	0	3	1	3	1	0	0	4	1	4	1	1	1	1	1	1	1	6	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.366C>T	p.=	p.T122T	ENST00000397712	4/11	104	85	19	75	75	0	strelka-varscan-mutect	SEPT10,synonymous_variant,p.=,ENST00000356688,NM_001321498.1;SEPT10,synonymous_variant,p.=,ENST00000397712,NM_001321509.1,NM_144710.3;SEPT10,synonymous_variant,p.=,ENST00000397714,NM_178584.2;SEPT10,synonymous_variant,p.=,ENST00000437928,;SEPT10,synonymous_variant,p.=,ENST00000415095,;SEPT10,5_prime_UTR_variant,,ENST00000461295,;SEPT10,intron_variant,,ENST00000493445,;SEPT10,intron_variant,,ENST00000423520,;SEPT10,downstream_gene_variant,,ENST00000442746,;SEPT10,downstream_gene_variant,,ENST00000411469,;SEPT10,intron_variant,,ENST00000486678,;SEPT10,intron_variant,,ENST00000425498,;	A	ENST00000397712	Transcript	synonymous_variant	745/3071	366/1365	122/454	T	acC/acT		1		-1	SEPT10	HGNC	HGNC:14349	protein_coding	YES	CCDS46383.1	ENSP00000380824	Q9P0V9		UPI00000372DD	NM_001321509.1,NM_144710.3			4/11		Gene3D:3.40.50.300,Pfam_domain:PF00735,PIRSF_domain:PIRSF006698,PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF50,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	109585173	109585173	G	A	1	0	0	0	0	0	0	0	1	14336	1335	47	3		3	SEPT10	2	109585173	Silent	SNP	G	C3L-00144_TP	1730603	109585173	132608356	246	4525											
SEPT10	0	.	GRCh38	chr2	109585757	109585757	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagaaaccttgctgaaTggatctgttcaccagctgat	13	10	9	9	0	2	3	1	2	1	1	2	4	2	4	2	1	4	4	2	1	3	2	rs150267546		C3L-00144_TP	C3L-00144_NB	T	T																c.181A>T	p.Ile61Phe	p.I61F	ENST00000397712	3/11	367	303	64	250	249	1	strelka-varscan-mutect	SEPT10,missense_variant,p.Ile61Phe,ENST00000356688,NM_001321498.1;SEPT10,missense_variant,p.Ile61Phe,ENST00000397712,NM_001321509.1,NM_144710.3;SEPT10,missense_variant,p.Ile38Phe,ENST00000397714,NM_178584.2;SEPT10,missense_variant,p.Ile46Phe,ENST00000437928,;SEPT10,missense_variant,p.Ile61Phe,ENST00000415095,;SEPT10,missense_variant,p.Ile52Phe,ENST00000442746,;SEPT10,missense_variant,p.Ile46Phe,ENST00000411469,;SEPT10,intron_variant,,ENST00000493445,;SEPT10,intron_variant,,ENST00000461295,;SEPT10,intron_variant,,ENST00000423520,;SEPT10,intron_variant,,ENST00000486678,;SEPT10,intron_variant,,ENST00000425498,;	A	ENST00000397712	Transcript	missense_variant	560/3071	181/1365	61/454	I/F	Att/Ttt	rs150267546	1		-1	SEPT10	HGNC	HGNC:14349	protein_coding	YES	CCDS46383.1	ENSP00000380824	Q9P0V9		UPI00000372DD	NM_001321509.1,NM_144710.3	deleterious(0.03)		3/11		PIRSF_domain:PIRSF006698,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF50,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs150267546	.												A	3	1	12	109585757	109585757	T	A	1	0	0	0	0	1	0	0	0	14336	1464	51	4		4	SEPT10	2	109585757	Missense_Mutation	SNP	T	C3L-00144_TP	584	109585757	132607772	247	4526											
MALL	0	.	GRCh38	chr2	110091625	110091625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactctccaggattcaaatCttttgtaaaatccaaacaag	16	11	5	9	0	3	0	1	0	2	0	5	2	4	1	2	1	2	1	2	1	6	4	rs757494098		C3L-00144_TP	C3L-00144_NB	C	C																c.251G>A	p.Arg84Lys	p.R84K	ENST00000272462	2/4	226	213	13	159	159	0	varscan-mutect	MALL,missense_variant,p.Arg84Lys,ENST00000272462,NM_005434.4;MALL,intron_variant,,ENST00000427178,;MALL,synonymous_variant,p.=,ENST00000424988,;	T	ENST00000272462	Transcript	missense_variant	1025/3061	251/462	84/153	R/K	aGa/aAa	rs757494098	1		-1	MALL	HGNC	HGNC:6818	protein_coding	YES	CCDS2085.1	ENSP00000272462	Q13021		UPI0000126897	NM_005434.4	tolerated(0.46)		2/4		Pfam_domain:PF01284,PROSITE_profiles:PS51225,hmmpanther:PTHR22776,hmmpanther:PTHR22776:SF24																	MODERATE	1	SNV	1			1										PASS		rs757494098	.												T	3	4	12	110091625	110091625	C	T	1	0	0	0	0	1	0	0	0	9120	913	32	3		3	MALL	2	110091625	Missense_Mutation	SNP	C	C3L-00144_TP	505868	110091625	132101904	248	4527											
POLR1B	0	.	GRCh38	chr2	112550874	112550874	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggttcaataggagtttcaAtgcactgtgtgagggaagaa	12	12	13	4	0	2	2	2	1	0	1	2	4	2	4	0	3	1	3	0	3	5	4	rs749884133		C3L-00144_TP	C3L-00144_NB	A	A																c.748A>T	p.Met250Leu	p.M250L	ENST00000541869	6/16	187	134	53	120	120	0	strelka-varscan-mutect	POLR1B,start_lost,p.Met1?,ENST00000537335,NM_001282776.1;POLR1B,missense_variant,p.Met250Leu,ENST00000541869,NM_001282772.1;POLR1B,missense_variant,p.Met212Leu,ENST00000263331,NM_019014.5;POLR1B,missense_variant,p.Met212Leu,ENST00000409894,NM_001282774.1;POLR1B,missense_variant,p.Met156Leu,ENST00000417433,NM_001137604.2,NM_001282779.1,NM_001282777.1;POLR1B,downstream_gene_variant,,ENST00000430769,;POLR1B,downstream_gene_variant,,ENST00000438748,;POLR1B,upstream_gene_variant,,ENST00000498054,;POLR1B,downstream_gene_variant,,ENST00000496238,;POLR1B,missense_variant,p.Gln62His,ENST00000430293,;POLR1B,3_prime_UTR_variant,,ENST00000333990,;POLR1B,non_coding_transcript_exon_variant,,ENST00000475318,;POLR1B,non_coding_transcript_exon_variant,,ENST00000468475,;POLR1B,intron_variant,,ENST00000448770,;POLR1B,downstream_gene_variant,,ENST00000424062,;	T	ENST00000541869	Transcript	missense_variant	864/5059	748/3522	250/1173	M/L	Atg/Ttg	rs749884133	1		1	POLR1B	HGNC	HGNC:20454	protein_coding	YES	CCDS62988.1	ENSP00000444136	Q9H9Y6		UPI0002065A70	NM_001282772.1	tolerated(0.26)		6/16		Pfam_domain:PF04561,Pfam_domain:PF04563,hmmpanther:PTHR20856,hmmpanther:PTHR20856:SF5,Superfamily_domains:SSF64484																	MODERATE	1	SNV	2			1										PASS		rs749884133	.												T	3	4	12	112550874	112550874	A	T	1	0	0	0	0	1	0	0	0	12320	101	4	4		4	POLR1B	2	112550874	Missense_Mutation	SNP	A	C3L-00144_TP	2459249	112550874	129642655	249	4528											
PSD4	0	.	GRCh38	chr2	113183224	113183224	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcctggcgagtccttgCtcagagaacagtgcttctgg	6	12	11	12	1	3	1	1	0	2	1	5	3	5	1	2	2	3	2	2	2	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.768C>G	p.Cys256Trp	p.C256W	ENST00000245796	2/17	213	165	48	141	141	0	strelka-varscan-mutect	PSD4,missense_variant,p.Cys256Trp,ENST00000441564,;PSD4,missense_variant,p.Cys256Trp,ENST00000245796,NM_012455.2;PSD4,intron_variant,,ENST00000485525,;PSD4,downstream_gene_variant,,ENST00000465917,;PSD4,non_coding_transcript_exon_variant,,ENST00000418251,;PSD4,upstream_gene_variant,,ENST00000409656,;	G	ENST00000245796	Transcript	missense_variant	963/5188	768/3171	256/1056	C/W	tgC/tgG		1		1	PSD4	HGNC	HGNC:19096	protein_coding	YES	CCDS33276.1	ENSP00000245796	Q8NDX1		UPI00004A0748	NM_012455.2	deleterious_low_confidence(0.03)		2/17																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	113183224	113183224	C	G	1	0	0	0	0	1	0	0	0	12800	805	28	4		4	PSD4	2	113183224	Missense_Mutation	SNP	C	C3L-00144_TP	632350	113183224	129010305	250	4529											
DPP10	0	.	GRCh38	chr2	115162246	115162246	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgagaggatgcgcaaggtgGagagccgcggggaagggggc	9	2	23	7	4	0	2	0	0	0	2	0	6	0	4	1	7	2	1	1	7	2	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.13G>T	p.Glu5Ter	p.E5*	ENST00000310323	1/26	210	171	39	136	136	0	strelka-varscan-mutect	DPP10,stop_gained,p.Glu5Ter,ENST00000310323,NM_001004360.3;DPP10,intron_variant,,ENST00000410059,NM_001321910.1,NM_001321911.1,NM_001321914.1,NM_001321905.1,NM_001321906.1,NM_020868.3;DPP10,intron_variant,,ENST00000409163,NM_001178036.1,NM_001178037.1;DPP10,intron_variant,,ENST00000393147,NM_001178034.1;DPP10,intron_variant,,ENST00000436732,;DPP10,intron_variant,,ENST00000393146,;DPP10-AS1,upstream_gene_variant,,ENST00000432658,;DPP10-AS1,upstream_gene_variant,,ENST00000448663,;DPP10,stop_gained,p.Glu5Ter,ENST00000429914,;DPP10,non_coding_transcript_exon_variant,,ENST00000486885,;DPP10,intron_variant,,ENST00000461250,;	T	ENST00000310323	Transcript	stop_gained	140/3052	13/2370	5/789	E/*	Gag/Tag		1		1	DPP10	HGNC	HGNC:20823	protein_coding		CCDS33278.1	ENSP00000309066	Q8N608		UPI0000D61221	NM_001004360.3			1/26		Low_complexity_(Seg):seg																	HIGH		SNV	1			1										PASS		.	.												T	4	4	12	115162246	115162246	G	T	1	0	0	0	0	0	1	0	0	4542	1175	41	2		2	DPP10	2	115162246	Nonsense_Mutation	SNP	G	C3L-00144_TP	1979022	115162246	127031283	251	4530											
C1QL2	0	.	GRCh38	chr2	119157938	119157938	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagcccgggccgccccGagtcgcccttctctcccgga	3	6	12	20	5	1	0	0	0	1	0	4	2	2	1	6	3	1	1	6	3	0	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.332C>A	p.Ser111Ter	p.S111*	ENST00000272520	1/2	191	161	30	158	158	0	strelka-varscan-mutect	C1QL2,stop_gained,p.Ser111Ter,ENST00000272520,NM_182528.3;	T	ENST00000272520	Transcript	stop_gained	952/2043	332/864	111/287	S/*	tCg/tAg		1		-1	C1QL2	HGNC	HGNC:24181	protein_coding	YES	CCDS42737.1	ENSP00000272520	Q7Z5L3		UPI000013D95E	NM_182528.3			1/2		Pfam_domain:PF01391																	HIGH	1	SNV	1			1										PASS		rs927120716	.												T	4	4	12	119157938	119157938	G	T	1	0	0	0	0	0	1	0	0	1937	1059	37	1		1	C1QL2	2	119157938	Nonsense_Mutation	SNP	G	C3L-00144_TP	3995692	119157938	123035591	252	4531											
UGGT1	0	.	GRCh38	chr2	128129059	128129059	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgttgaggaatgaagctcgGgtaatggagggtctgcatag	10	10	17	4	1	1	2	0	2	1	0	2	4	1	4	0	4	2	4	0	4	4	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1257G>T	p.=	p.R419R	ENST00000259253	13/41	138	114	24	95	94	1	strelka-mutect	UGGT1,synonymous_variant,p.=,ENST00000259253,NM_020120.3;UGGT1,3_prime_UTR_variant,,ENST00000376723,;UGGT1,3_prime_UTR_variant,,ENST00000438277,;	T	ENST00000259253	Transcript	synonymous_variant	1304/10650	1257/4668	419/1555	R	cgG/cgT		1		1	UGGT1	HGNC	HGNC:15663	protein_coding	YES	CCDS2154.1	ENSP00000259253	Q9NYU2		UPI00000707D8	NM_020120.3			13/41		Pfam_domain:PF06427,hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF3																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	128129059	128129059	G	T	1	0	0	0	0	0	0	0	1	17466	1219	43	2		2	UGGT1	2	128129059	Silent	SNP	G	C3L-00144_TP	8971121	128129059	114064470	253	4532											
TUBA3E	0	.	GRCh38	chr2	130192075	130192075	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcacacggcccgctgcaccTtggccaggtctcccccgggg	4	6	13	18	3	1	0	0	0	1	0	2	0	1	0	5	5	2	3	5	5	0	1	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1109A>T	p.Lys370Met	p.K370M	ENST00000312988	5/5	98	87	11	65	65	0	varscan-mutect	TUBA3E,missense_variant,p.Lys370Met,ENST00000312988,NM_207312.2;MZT2B,downstream_gene_variant,,ENST00000281871,NM_025029.3;MZT2B,downstream_gene_variant,,ENST00000409255,;MZT2B,downstream_gene_variant,,ENST00000425361,;MZT2B,downstream_gene_variant,,ENST00000457492,;MZT2B,downstream_gene_variant,,ENST00000455239,;MZT2B,downstream_gene_variant,,ENST00000491178,;MZT2B,downstream_gene_variant,,ENST00000480182,;	A	ENST00000312988	Transcript	missense_variant	1210/1542	1109/1353	370/450	K/M	aAg/aTg		1		-1	TUBA3E	HGNC	HGNC:20765	protein_coding	YES	CCDS2158.1	ENSP00000318197	Q6PEY2		UPI00001BE8EB	NM_207312.2	deleterious_low_confidence(0)		5/5		Gene3D:3.30.1330.20,Pfam_domain:PF03953,Prints_domain:PR01162,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF94,SMART_domains:SM00865,Superfamily_domains:SSF55307																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	130192075	130192075	T	A	1	0	0	0	0	1	0	0	0	17258	1609	56	4		4	TUBA3E	2	130192075	Missense_Mutation	SNP	T	C3L-00144_TP	2063016	130192075	112001454	254	4533											
POTEI	0	.	GRCh38	chr2	130463542	130463542	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcatggcctggatggcCacgtacatggctggggtgtt	7	9	16	9	1	0	0	0	0	0	0	0	2	0	1	2	6	2	4	2	6	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2502G>T	p.=	p.V834V	ENST00000451531	15/15	123	105	18	107	107	0	varscan-mutect	POTEI,synonymous_variant,p.=,ENST00000451531,NM_001277406.1;POTEI,downstream_gene_variant,,ENST00000631234,;POTEI,downstream_gene_variant,,ENST00000615053,;	A	ENST00000451531	Transcript	synonymous_variant	2933/7020	2502/3228	834/1075	V	gtG/gtT		1		-1	POTEI	HGNC	HGNC:37093	protein_coding	YES	CCDS59431.1	ENSP00000392718	P0CG38		UPI00006C04CB	NM_001277406.1			15/15		Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	130463542	130463542	C	A	1	0	0	0	0	0	0	0	1	12382	581	21	2		2	POTEI	2	130463542	Silent	SNP	C	C3L-00144_TP	271467	130463542	111729987	255	4534											
POTEI	0	.	GRCh38	chr2	130509021	130509021	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcttgccactccccctgCagcaggggaagcagtggcag	7	7	13	14	0	1	0	0	0	1	0	2	1	2	1	3	3	5	5	3	3	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.215G>T	p.Cys72Phe	p.C72F	ENST00000451531	1/15	951	814	137	766	766	0	strelka-varscan-mutect	POTEI,missense_variant,p.Cys72Phe,ENST00000451531,NM_001277406.1;POTEI,missense_variant,p.Cys72Phe,ENST00000631234,;POTEI,missense_variant,p.Cys72Phe,ENST00000615053,;	A	ENST00000451531	Transcript	missense_variant	646/7020	215/3228	72/1075	C/F	tGc/tTc		1		-1	POTEI	HGNC	HGNC:37093	protein_coding	YES	CCDS59431.1	ENSP00000392718	P0CG38		UPI00006C04CB	NM_001277406.1	deleterious_low_confidence(0)		1/15		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50																	MODERATE	1	SNV	1			1										PASS		rs1380383492	.												A	3	1	12	130509021	130509021	C	A	1	0	0	0	0	1	0	0	0	12382	710	25	2		2	POTEI	2	130509021	Missense_Mutation	SNP	C	C3L-00144_TP	45479	130509021	111684508	256	4535											
GPR148	0	.	GRCh38	chr2	130729279	130729279	+	Frame_Shift_Del	DEL	G	G	-																															cttgggcctgggggacctcaGggtgcccagctccatgctgt																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.130delG	p.Val44CysfsTer29	p.V44Cfs*29	ENST00000309926	1/1	71	55	16	62	62	0	sindel-varindel-pindel	GPR148,frameshift_variant,p.Val44CysfsTer29,ENST00000309926,NM_207364.2;	-	ENST00000309926	Transcript	frameshift_variant	210/1267	128/1044	43/347	R/X	aGg/ag		1		1	GPR148	HGNC	HGNC:23623	protein_coding	YES	CCDS2163.1	ENSP00000308908	Q8TDV2		UPI0000048E0D	NM_207364.2			1/1		hmmpanther:PTHR24243:SF114,hmmpanther:PTHR24243,Superfamily_domains:SSF81321																	HIGH	1	deletion		2		1										PASS		.	.												-	7	5	12	130729279	130729279	G	-	1	0	1	0	1	0	0	0	0	6539	1000	35	0		0	GPR148	2	130729279	Frame_Shift_Del	DEL	G	C3L-00144_TP	220258	130729279	111464250	257	4536											
AMER3	0	.	GRCh38	chr2	130763194	130763194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacacaggcacccccaagagCgagcagcccgaatccgtgtc	11	3	11	16	3	0	1	0	0	0	1	2	4	1	1	4	1	3	2	4	1	2	0	rs202240427		C3L-00144_TP	C3L-00144_NB	C	C																c.1122C>A	p.Ser374Arg	p.S374R	ENST00000423981	2/2	347	282	65	281	278	3	strelka-varscan-mutect	AMER3,missense_variant,p.Ser374Arg,ENST00000423981,NM_001105193.1,NM_001105195.1,NM_001105194.1;AMER3,missense_variant,p.Ser374Arg,ENST00000321420,NM_152698.2;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	A	ENST00000423981	Transcript	missense_variant	1232/6172	1122/2586	374/861	S/R	agC/agA	rs202240427	1		1	AMER3	HGNC	HGNC:26771	protein_coding	YES	CCDS2164.1	ENSP00000392700	Q8N944		UPI0000D61239	NM_001105193.1,NM_001105195.1,NM_001105194.1	deleterious(0)		2/2		hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2,Pfam_domain:PF09422																	MODERATE	1	SNV	4			1										PASS		rs202240427	.												A	3	1	12	130763194	130763194	C	A	1	0	0	0	0	1	0	0	0	669	767	27	1		1	AMER3	2	130763194	Missense_Mutation	SNP	C	C3L-00144_TP	33915	130763194	111430335	258	4537											
THSD7B	0	.	GRCh38	chr2	137657148	137657148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccagcgttcagatggcGttaatgtcacaggtattcct	8	12	12	9	2	2	1	2	0	0	1	3	1	3	1	2	3	2	3	2	3	2	4	rs147732921		C3L-00144_TP	C3L-00144_NB	G	G																c.4369G>T	p.Val1457Phe	p.V1457F	ENST00000272643	23/27	190	152	38	142	141	1	strelka-varscan-mutect	THSD7B,missense_variant,p.Val1455Phe,ENST00000409968,NM_001316349.1;THSD7B,missense_variant,p.Val1457Phe,ENST00000272643,;THSD7B,missense_variant,p.Val1426Phe,ENST00000413152,NM_001080427.1;THSD7B,downstream_gene_variant,,ENST00000480352,;	T	ENST00000272643	Transcript	missense_variant	4369/5939	4369/4827	1457/1608	V/F	Gtt/Ttt	rs147732921,COSM1399646,COSM1399647	1		1	THSD7B	HGNC	HGNC:29348	protein_coding	YES		ENSP00000272643	Q9C0I4		UPI0004E4C87A		deleterious(0.01)		23/27		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs147732921	.												T	3	4	12	137657148	137657148	G	T	1	0	0	0	0	1	0	0	0	16314	1145	40	1		1	THSD7B	2	137657148	Missense_Mutation	SNP	G	C3L-00144_TP	6893954	137657148	104536381	259	4538											
LRP1B	0	.	GRCh38	chr2	140373139	140373139	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttgtctcacaatttctcTatgaaaaacaacagagatat	17	12	4	8	0	2	2	1	1	2	1	4	3	2	2	0	0	3	0	0	0	7	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.10639-2A>G		p.X3547_splice	ENST00000389484		240	200	40	220	220	0	strelka-varscan-mutect	LRP1B,splice_acceptor_variant,,ENST00000389484,NM_018557.2;	C	ENST00000389484	Transcript	splice_acceptor_variant	-/16535	10639/13800	3547/4599				1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2				68/90																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	12	140373139	140373139	T	C	1	0	0	0	0	0	0	1	0	8850	1536	53	5		5	LRP1B	2	140373139	Splice_Site	SNP	T	C3L-00144_TP	2715991	140373139	101820390	260	4539											
LRP1B	0	.	GRCh38	chr2	140457490	140457490	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtctataagaatgatacaCctggatatctgtgatggcat	12	14	9	6	0	2	3	0	2	2	1	2	4	2	4	1	2	1	1	1	2	5	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.9787G>T	p.Val3263Leu	p.V3263L	ENST00000389484	61/91	127	108	19	105	104	1	strelka-varscan-mutect	LRP1B,missense_variant,p.Val3263Leu,ENST00000389484,NM_018557.2;	A	ENST00000389484	Transcript	missense_variant	10759/16535	9787/13800	3263/4599	V/L	Gtg/Ttg		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0.01)		61/91		hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:2.120.10.30,Superfamily_domains:SSF57184,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	140457490	140457490	C	A	1	0	0	0	0	1	0	0	0	8850	507	18	2		2	LRP1B	2	140457490	Missense_Mutation	SNP	C	C3L-00144_TP	84351	140457490	101736039	261	4540											
LRP1B	0	.	GRCh38	chr2	141015871	141015871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcaatccttcccacgCtgtcatctatttcatcttcc	6	16	2	17	1	5	0	3	0	3	0	9	0	8	0	4	0	0	1	4	0	2	5	rs150406301		C3L-00144_TP	C3L-00144_NB	C	C																c.2015G>T	p.Ser672Ile	p.S672I	ENST00000389484	13/91	327	276	51	323	323	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Ser672Ile,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	A	ENST00000389484	Transcript	missense_variant	2987/16535	2015/13800	672/4599	S/I	aGc/aTc	rs150406301	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(0.06)		13/91		PROSITE_profiles:PS51120,Pfam_domain:PF00058,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		rs150406301	.												A	3	1	12	141015871	141015871	C	A	1	0	0	0	0	1	0	0	0	8850	797	28	2		2	LRP1B	2	141015871	Missense_Mutation	SNP	C	C3L-00144_TP	558381	141015871	101177658	262	4541											
GTDC1	0	.	GRCh38	chr2	143957325	143957325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatcccaatgcctttttggCctctgaaaaaatatctttta	12	15	5	9	0	2	2	0	1	2	1	3	2	3	2	3	1	1	0	3	1	6	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1000G>T	p.Ala334Ser	p.A334S	ENST00000392869	8/11	119	85	34	90	90	0	strelka-varscan-mutect	GTDC1,missense_variant,p.Ala334Ser,ENST00000392869,;GTDC1,missense_variant,p.Ala334Ser,ENST00000409214,NM_001006636.3;GTDC1,missense_variant,p.Ala334Ser,ENST00000542155,NM_001164629.3;GTDC1,missense_variant,p.Ala334Ser,ENST00000344850,;GTDC1,missense_variant,p.Ala302Ser,ENST00000618778,NM_001284238.1;GTDC1,missense_variant,p.Ala216Ser,ENST00000409298,;GTDC1,missense_variant,p.Ala205Ser,ENST00000463875,NM_001284234.1;GTDC1,intron_variant,,ENST00000392867,NM_024659.4;GTDC1,intron_variant,,ENST00000241391,NM_001284233.1;AC016910.1,intron_variant,,ENST00000422799,;GTDC1,3_prime_UTR_variant,,ENST00000415569,;GTDC1,intron_variant,,ENST00000392871,;	A	ENST00000392869	Transcript	missense_variant	1153/10514	1000/1377	334/458	A/S	Gcc/Tcc		1		-1	GTDC1	HGNC	HGNC:20887	protein_coding	YES	CCDS33300.1	ENSP00000376608	Q4AE62		UPI000022BC3B		tolerated(0.24)		8/11		hmmpanther:PTHR13615,hmmpanther:PTHR13615:SF3,Pfam_domain:PF00534,Gene3D:3.40.50.2000,Superfamily_domains:SSF53756																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	12	143957325	143957325	C	A	1	0	0	0	0	1	0	0	0	6733	739	26	2		2	GTDC1	2	143957325	Missense_Mutation	SNP	C	C3L-00144_TP	2941454	143957325	98236204	263	4542											
KIF5C	0	.	GRCh38	chr2	148946914	148946914	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagacatgaatgaacacaGctctagaagtcacagtatct	15	10	7	9	0	4	4	2	2	2	2	4	4	4	4	0	0	2	2	0	0	5	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.605G>C	p.Ser202Thr	p.S202T	ENST00000435030	8/26	348	279	69	275	275	0	strelka-varscan-mutect	KIF5C,missense_variant,p.Ser202Thr,ENST00000435030,NM_004522.2;KIF5C,upstream_gene_variant,,ENST00000450621,;KIF5C,upstream_gene_variant,,ENST00000464066,;	C	ENST00000435030	Transcript	missense_variant	973/6931	605/2874	202/957	S/T	aGc/aCc		1		1	KIF5C	HGNC	HGNC:6325	protein_coding	YES	CCDS74586.1	ENSP00000393379	O60282		UPI000012DDB7	NM_004522.2	deleterious(0)		8/26		Gene3D:3.40.850.10,Pfam_domain:PF00225,Prints_domain:PR00380,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF380,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	148946914	148946914	G	C	1	0	0	0	0	1	0	0	0	8172	971	34	4		4	KIF5C	2	148946914	Missense_Mutation	SNP	G	C3L-00144_TP	4989589	148946914	93246615	264	4543											
RIF1	0	.	GRCh38	chr2	151436889	151436889	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgagttcgaatttaggtGgaatggccacaatcccatcc	11	10	9	11	1	0	1	0	1	0	0	3	3	2	2	4	3	0	1	4	3	4	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1258G>T	p.Gly420Ter	p.G420*	ENST00000243326	11/35	202	161	41	158	158	0	strelka-varscan-mutect	RIF1,stop_gained,p.Gly420Ter,ENST00000243326,;RIF1,stop_gained,p.Gly420Ter,ENST00000453091,NM_001177663.1;RIF1,stop_gained,p.Gly420Ter,ENST00000430328,NM_001177665.1;RIF1,stop_gained,p.Gly420Ter,ENST00000444746,NM_018151.4;RIF1,stop_gained,p.Gly420Ter,ENST00000428287,NM_001177664.1;RIF1,stop_gained,p.Gly412Ter,ENST00000414861,;	T	ENST00000243326	Transcript	stop_gained	1741/15003	1258/7419	420/2472	G/*	Gga/Tga		1		1	RIF1	HGNC	HGNC:23207	protein_coding	YES	CCDS2194.1	ENSP00000243326	Q5UIP0		UPI000023729F				11/35		hmmpanther:PTHR22928																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	151436889	151436889	G	T	1	0	0	0	0	0	1	0	0	13533	1349	47	2		2	RIF1	2	151436889	Nonsense_Mutation	SNP	G	C3L-00144_TP	2489975	151436889	90756640	265	4544											
PRPF40A	0	.	GRCh38	chr2	152663935	152663935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtgctttaagatcctcaaCataaaacttgaaaagatcaa	18	10	5	8	1	2	3	2	1	0	2	3	3	3	3	1	0	3	1	1	0	7	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1912G>T	p.Val638Phe	p.V638F	ENST00000410080	18/26	132	113	19	90	89	1	strelka-varscan-mutect	PRPF40A,missense_variant,p.Val638Phe,ENST00000410080,NM_017892.3;PRPF40A,upstream_gene_variant,,ENST00000471167,;PRPF40A,upstream_gene_variant,,ENST00000471701,;PRPF40A,upstream_gene_variant,,ENST00000472760,;	A	ENST00000410080	Transcript	missense_variant	2454/8048	1912/2793	638/930	V/F	Gtt/Ttt		1		-1	PRPF40A	HGNC	HGNC:16463	protein_coding	YES	CCDS46430.1	ENSP00000386458	O75400		UPI00015743D9	NM_017892.3	deleterious(0)		18/26		Gene3D:1uzcA00,PROSITE_profiles:PS51676,hmmpanther:PTHR11864,hmmpanther:PTHR11864:SF20,SMART_domains:SM00441,Superfamily_domains:SSF81698																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	152663935	152663935	C	A	1	0	0	0	0	1	0	0	0	12707	478	17	2		2	PRPF40A	2	152663935	Missense_Mutation	SNP	C	C3L-00144_TP	1227046	152663935	89529594	266	4545											
ITGB6	0	.	GRCh38	chr2	160141984	160141984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgtaaaatatcctacttCataagctgagatgatcagct	14	12	7	8	0	2	2	2	2	0	1	3	3	3	2	1	0	4	4	1	0	5	5			C3L-00144_TP	C3L-00144_NB	C	C																c.1105G>A	p.Glu369Lys	p.E369K	ENST00000283249	8/15	285	264	21	203	203	0	strelka-varscan-mutect	ITGB6,missense_variant,p.Glu369Lys,ENST00000283249,NM_000888.4,NM_001282389.1,NM_001282353.1;ITGB6,missense_variant,p.Glu274Lys,ENST00000620391,NM_001282354.1,NM_001282390.1;ITGB6,missense_variant,p.Glu327Lys,ENST00000428609,NM_001282388.1;ITGB6,missense_variant,p.Glu369Lys,ENST00000409872,;ITGB6,missense_variant,p.Glu369Lys,ENST00000409967,NM_001282355.1;ITGB6,non_coding_transcript_exon_variant,,ENST00000485635,;ITGB6,splice_region_variant,,ENST00000409583,;	T	ENST00000283249	Transcript	missense_variant,splice_region_variant	1343/4675	1105/2367	369/788	E/K	Gaa/Aaa	COSM5601653	1		-1	ITGB6	HGNC	HGNC:6161	protein_coding	YES	CCDS2212.1	ENSP00000283249	P18564		UPI000012DA13	NM_000888.4,NM_001282389.1,NM_001282353.1	tolerated(1)		8/15		Low_complexity_(Seg):seg,hmmpanther:PTHR10082:SF11,hmmpanther:PTHR10082,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,Gene3D:3.40.50.410,SMART_domains:SM00187,Superfamily_domains:SSF53300											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	12	160141984	160141984	C	T	1	0	0	0	0	1	0	0	0	7805	840	29	3		3	ITGB6	2	160141984	Missense_Mutation	SNP	C	C3L-00144_TP	7478049	160141984	82051545	267	4546											
TBR1	0	.	GRCh38	chr2	161423653	161423653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacgccggccaacaaccGgctggacttcgcggcctcgg	6	6	14	15	6	0	1	0	1	0	0	2	2	0	2	4	5	2	1	4	5	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1475G>T	p.Arg492Leu	p.R492L	ENST00000389554	6/6	272	220	52	179	179	0	strelka-varscan-mutect	TBR1,missense_variant,p.Arg492Leu,ENST00000389554,NM_006593.2;TBR1,missense_variant,p.Arg205Leu,ENST00000410035,;TBR1,missense_variant,p.Arg192Leu,ENST00000411412,;AC009487.5,upstream_gene_variant,,ENST00000505579,;AC009487.4,upstream_gene_variant,,ENST00000444164,;AC009487.4,upstream_gene_variant,,ENST00000437683,;TBR1,non_coding_transcript_exon_variant,,ENST00000477804,;SLC4A10,upstream_gene_variant,,ENST00000605990,;SLC4A10,upstream_gene_variant,,ENST00000482861,;TBR1,downstream_gene_variant,,ENST00000489530,;SLC4A10,upstream_gene_variant,,ENST00000606386,;TBR1,non_coding_transcript_exon_variant,,ENST00000463544,;	T	ENST00000389554	Transcript	missense_variant	1792/4009	1475/2049	492/682	R/L	cGg/cTg		1		1	TBR1	HGNC	HGNC:11590	protein_coding	YES	CCDS33310.1	ENSP00000374205	Q16650		UPI0000136A99	NM_006593.2	deleterious(0.01)		6/6		hmmpanther:PTHR11267:SF88,hmmpanther:PTHR11267,Pfam_domain:PF16176																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	161423653	161423653	G	T	1	0	0	0	0	1	0	0	0	16052	1116	39	1		1	TBR1	2	161423653	Missense_Mutation	SNP	G	C3L-00144_TP	1281669	161423653	80769876	268	4547											
DPP4	0	.	GRCh38	chr2	162008615	162008615	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctattccacacttgaacacgCcacttcccgatcccaggacc	10	8	5	18	2	0	1	0	1	0	0	3	3	3	2	5	1	1	0	5	1	2	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1934G>C	p.Gly645Ala	p.G645A	ENST00000360534	22/26	457	386	71	341	341	0	strelka-varscan-mutect	DPP4,missense_variant,p.Gly645Ala,ENST00000360534,NM_001935.3;DPP4,non_coding_transcript_exon_variant,,ENST00000491591,;DPP4,3_prime_UTR_variant,,ENST00000434918,;DPP4,non_coding_transcript_exon_variant,,ENST00000490286,;DPP4,non_coding_transcript_exon_variant,,ENST00000494507,;	G	ENST00000360534	Transcript	missense_variant	2495/3904	1934/2301	645/766	G/A	gGc/gCc		1		-1	DPP4	HGNC	HGNC:3009	protein_coding	YES	CCDS2216.1	ENSP00000353731	P27487		UPI000004F7BF	NM_001935.3	deleterious(0.04)		22/26		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF128,Pfam_domain:PF00326,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	162008615	162008615	C	G	1	0	0	0	0	1	0	0	0	4544	739	26	4		4	DPP4	2	162008615	Missense_Mutation	SNP	C	C3L-00144_TP	584962	162008615	80184914	269	4548											
IFIH1	0	.	GRCh38	chr2	162317878	162317878	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttctgtcttcaattgtcaAcagttcctcctccatgcact	7	16	5	13	0	4	0	2	0	2	0	7	0	7	0	3	0	2	3	3	0	2	4	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.430T>C	p.=	p.L144L	ENST00000263642	1/16	76	64	12	55	55	0	strelka-varscan-mutect	IFIH1,synonymous_variant,p.=,ENST00000263642,NM_022168.3;IFIH1,synonymous_variant,p.=,ENST00000421365,;GCA,upstream_gene_variant,,ENST00000429691,;GCA,upstream_gene_variant,,ENST00000446271,;GCA,upstream_gene_variant,,ENST00000473240,;	G	ENST00000263642	Transcript	synonymous_variant	826/3595	430/3078	144/1025	L	Ttg/Ctg		1		-1	IFIH1	HGNC	HGNC:18873	protein_coding	YES	CCDS2217.1	ENSP00000263642	Q9BYX4		UPI000013D436	NM_022168.3			1/16		Gene3D:1.10.533.10,Pfam_domain:PF16739,hmmpanther:PTHR14074,hmmpanther:PTHR14074:SF14,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	162317878	162317878	A	G	1	0	0	0	0	0	0	0	1	7420	40	2	5		5	IFIH1	2	162317878	Silent	SNP	A	C3L-00144_TP	309263	162317878	79875651	270	4549											
KCNH7	0	.	GRCh38	chr2	162371968	162371968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcaggtgaagctctaaaGagagatcactgtcttgtttt	10	12	11	8	1	3	3	1	1	2	2	3	4	3	3	1	1	1	3	1	1	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3452C>A	p.Ser1151Tyr	p.S1151Y	ENST00000332142	16/16	341	256	85	294	293	1	strelka-varscan-mutect	KCNH7,missense_variant,p.Ser1151Tyr,ENST00000332142,NM_033272.3;KCNH7,missense_variant,p.Ser1051Tyr,ENST00000618399,;GCA,downstream_gene_variant,,ENST00000414723,;	T	ENST00000332142	Transcript	missense_variant	3552/4113	3452/3591	1151/1196	S/Y	tCt/tAt		1		-1	KCNH7	HGNC	HGNC:18863	protein_coding	YES	CCDS2219.1	ENSP00000331727	Q9NS40		UPI0000167D11	NM_033272.3	deleterious_low_confidence(0.01)		16/16																			MODERATE	1	SNV	1			1										PASS		rs1274532863	.												T	3	4	12	162371968	162371968	G	T	1	0	0	0	0	1	0	0	0	7953	942	33	2		2	KCNH7	2	162371968	Missense_Mutation	SNP	G	C3L-00144_TP	54090	162371968	79821561	271	4550											
SCN3A	0	.	GRCh38	chr2	165095568	165095568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgaatagattcagagtGaagaatgacccaaagatgat	18	8	9	6	0	1	8	1	4	0	4	1	8	1	8	2	0	0	0	2	0	6	2			C3L-00144_TP	C3L-00144_NB	G	G																c.4374C>A	p.Phe1458Leu	p.F1458L	ENST00000283254	25/28	236	184	52	208	206	2	strelka-varscan-mutect	SCN3A,missense_variant,p.Phe1458Leu,ENST00000360093,;SCN3A,missense_variant,p.Phe1458Leu,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,missense_variant,p.Phe1409Leu,ENST00000409101,NM_001081677.1;SCN3A,downstream_gene_variant,,ENST00000440431,;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000628085,;AC013463.2,intron_variant,,ENST00000625505,;AC013463.2,downstream_gene_variant,,ENST00000431341,;SCN3A,upstream_gene_variant,,ENST00000465043,;SCN3A,non_coding_transcript_exon_variant,,ENST00000471697,;	T	ENST00000283254	Transcript	missense_variant	4842/9091	4374/6003	1458/2000	F/L	ttC/ttA	COSM3568708,COSM3568709	1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1	deleterious(0.02)		25/28		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	12	165095568	165095568	G	T	1	0	0	0	0	1	0	0	0	14187	1281	45	2		2	SCN3A	2	165095568	Missense_Mutation	SNP	G	C3L-00144_TP	2723600	165095568	77097961	272	4551											
SCN2A	0	.	GRCh38	chr2	165344569	165344569	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagctccgagttttcaaGttggcaaaatcttggccaac	10	12	8	11	1	2	0	1	0	1	0	4	1	4	0	3	2	2	4	3	2	4	5			C3L-00144_TP	C3L-00144_NB	G	G																c.2577G>A	p.=	p.K859K	ENST00000636071	17/28	262	237	25	195	195	0	strelka-varscan-mutect	SCN2A,synonymous_variant,p.=,ENST00000636071,;SCN2A,synonymous_variant,p.=,ENST00000636985,;SCN2A,synonymous_variant,p.=,ENST00000637266,;SCN2A,synonymous_variant,p.=,ENST00000375437,NM_001040142.1;SCN2A,synonymous_variant,p.=,ENST00000283256,NM_021007.2;SCN2A,synonymous_variant,p.=,ENST00000375427,NM_001040143.1;SCN2A,synonymous_variant,p.=,ENST00000631182,;SCN2A,3_prime_UTR_variant,,ENST00000636662,;SCN2A,3_prime_UTR_variant,,ENST00000636384,;SCN2A,3_prime_UTR_variant,,ENST00000636769,;SCN2A,3_prime_UTR_variant,,ENST00000636135,;SCN2A,non_coding_transcript_exon_variant,,ENST00000480032,;	A	ENST00000636071	Transcript	synonymous_variant	2954/9303	2577/6018	859/2005	K	aaG/aaA	COSM5474359,COSM5474360	1		1	SCN2A	HGNC	HGNC:10588	protein_coding	YES	CCDS33313.1	ENSP00000490107			UPI000002A663				17/28		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324											1,1						LOW	1	SNV			1,1	1										PASS		.	.												A	2	1	12	165344569	165344569	G	A	1	0	0	0	0	0	0	0	1	14185	1020	36	3		3	SCN2A	2	165344569	Silent	SNP	G	C3L-00144_TP	249001	165344569	76848960	273	4552											
SCN1A	0	.	GRCh38	chr2	166058658	166058658	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcactgaaccggaagaTggccttccctttattcaata	10	11	10	10	1	1	2	1	1	0	1	2	3	2	3	3	4	1	1	3	4	5	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.295A>G	p.Ile99Val	p.I99V	ENST00000303395	4/28	267	203	64	226	226	0	strelka-varscan-mutect	SCN1A,missense_variant,p.Ile99Val,ENST00000635776,;SCN1A,missense_variant,p.Ile99Val,ENST00000637988,;SCN1A,missense_variant,p.Ile99Val,ENST00000303395,NM_001202435.1,NM_001165963.1;SCN1A,missense_variant,p.Ile99Val,ENST00000635750,;SCN1A,missense_variant,p.Ile99Val,ENST00000423058,;SCN1A,missense_variant,p.Ile99Val,ENST00000375405,NM_006920.4;SCN1A,missense_variant,p.Ile99Val,ENST00000409050,NM_001165964.1;AC010127.3,intron_variant,,ENST00000629609,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000628933,;AC010127.3,intron_variant,,ENST00000627027,;AC010127.3,intron_variant,,ENST00000630226,;AC010127.3,intron_variant,,ENST00000595268,;SCN1A,missense_variant,p.Ile99Val,ENST00000636194,;SCN1A,3_prime_UTR_variant,,ENST00000636759,;SCN1A,non_coding_transcript_exon_variant,,ENST00000637968,;	C	ENST00000303395	Transcript	missense_variant	713/8533	295/6030	99/2009	I/V	Atc/Gtc		1		-1	SCN1A	HGNC	HGNC:10585	protein_coding	YES	CCDS54413.1	ENSP00000303540	P35498		UPI000003C71D	NM_001202435.1,NM_001165963.1	deleterious(0.02)		4/28		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF220																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	12	166058658	166058658	T	C	1	0	0	0	0	1	0	0	0	14183	1464	51	5		5	SCN1A	2	166058658	Missense_Mutation	SNP	T	C3L-00144_TP	714089	166058658	76134871	274	4553											
SCN9A	0	.	GRCh38	chr2	166306542	166306542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagtccggtgggttattCatggtcataaatatgcagtt	9	14	11	7	1	2	0	2	0	0	0	4	0	4	0	2	3	1	3	2	3	4	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.435G>T	p.Met145Ile	p.M145I	ENST00000409672	4/27	469	394	75	295	293	2	strelka-varscan-mutect	SCN9A,missense_variant,p.Met145Ile,ENST00000303354,;SCN9A,missense_variant,p.Met145Ile,ENST00000409672,NM_002977.3;SCN9A,missense_variant,p.Met145Ile,ENST00000409435,;SCN9A,missense_variant,p.Met10Ile,ENST00000452182,;SCN9A,missense_variant,p.Met10Ile,ENST00000454569,;AC010127.3,downstream_gene_variant,,ENST00000447809,;SCN9A,upstream_gene_variant,,ENST00000472119,;	A	ENST00000409672	Transcript	missense_variant	782/9768	435/5934	145/1977	M/I	atG/atT		1		-1	SCN9A	HGNC	HGNC:10597	protein_coding	YES	CCDS46441.1	ENSP00000386306	Q15858		UPI0000140AC7	NM_002977.3	tolerated(0.11)		4/27		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF221,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE		SNV	5			1										PASS		rs1352403629	.												A	3	1	12	166306542	166306542	C	A	1	0	0	0	0	1	0	0	0	14194	826	29	2		2	SCN9A	2	166306542	Missense_Mutation	SNP	C	C3L-00144_TP	247884	166306542	75886987	275	4554											
XIRP2	0	.	GRCh38	chr2	167243511	167243511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctagatcaacttggacagCttcattcagtggatgaggtt	11	13	10	7	0	4	2	3	1	1	1	4	4	4	4	0	3	2	2	0	3	2	5	rs775118091		C3L-00144_TP	C3L-00144_NB	C	C																c.2119C>A	p.Leu707Ile	p.L707I	ENST00000409195	9/11	130	96	34	107	107	0	strelka-varscan-mutect	XIRP2,missense_variant,p.Leu707Ile,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Leu485Ile,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Leu532Ile,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	A	ENST00000409195	Transcript	missense_variant	2208/12675	2119/10650	707/3549	L/I	Ctt/Att	rs775118091	1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious(0.03)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		rs775118091	.												A	3	1	12	167243511	167243511	C	A	1	0	0	0	0	1	0	0	0	17989	797	28	2		2	XIRP2	2	167243511	Missense_Mutation	SNP	C	C3L-00144_TP	936969	167243511	74950018	276	4555											
XIRP2	0	.	GRCh38	chr2	167247493	167247493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgtcatagatcgtgaacAaaacaatgatgctctggaga	15	10	10	6	1	2	4	1	2	1	2	3	6	2	4	0	1	3	1	0	1	5	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.6101A>G	p.Gln2034Arg	p.Q2034R	ENST00000409195	9/11	255	208	47	201	201	0	strelka-varscan-mutect	XIRP2,missense_variant,p.Gln2034Arg,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Gln1812Arg,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Gln1859Arg,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	G	ENST00000409195	Transcript	missense_variant	6190/12675	6101/10650	2034/3549	Q/R	cAa/cGa		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious_low_confidence(0.03)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	12	167247493	167247493	A	G	1	0	0	0	0	1	0	0	0	17989	130	5	5		5	XIRP2	2	167247493	Missense_Mutation	SNP	A	C3L-00144_TP	3982	167247493	74946036	277	4556											
XIRP2	0	.	GRCh38	chr2	167248794	167248794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatcagaaaaaagtaatgGtgatgaccagcagtgaacac	18	6	11	6	0	1	4	1	3	0	1	1	5	1	5	1	2	2	2	1	2	5	1	rs540282598		C3L-00144_TP	C3L-00144_NB	G	G																c.7402G>T	p.Val2468Leu	p.V2468L	ENST00000409195	9/11	166	135	31	145	144	1	strelka-varscan-mutect	XIRP2,missense_variant,p.Val2468Leu,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Val2246Leu,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Val2293Leu,ENST00000628543,;XIRP2,5_prime_UTR_variant,,ENST00000295237,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	T	ENST00000409195	Transcript	missense_variant	7491/12675	7402/10650	2468/3549	V/L	Gtg/Ttg	rs540282598	1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	tolerated_low_confidence(0.43)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		rs540282598	.												T	3	4	12	167248794	167248794	G	T	1	0	0	0	0	1	0	0	0	17989	1261	44	2		2	XIRP2	2	167248794	Missense_Mutation	SNP	G	C3L-00144_TP	1301	167248794	74944735	278	4557											
LRP2	0	.	GRCh38	chr2	169165951	169165951	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctcctctgtctcatcAgttccatctccacagtcatc	7	13	5	16	0	5	0	3	0	3	0	10	0	7	0	3	0	1	2	3	0	0	1	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.11739T>C	p.=	p.T3913T	ENST00000263816	62/79	615	465	150	454	454	0	strelka-varscan-mutect	LRP2,synonymous_variant,p.=,ENST00000263816,NM_004525.2;	G	ENST00000263816	Transcript	synonymous_variant	12025/15808	11739/13968	3913/4655	T	acT/acC		1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2			62/79		Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_patterns:PS01209,PROSITE_profiles:PS50068,Low_complexity_(Seg):seg,SMART_domains:SM00192,Superfamily_domains:SSF57424																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	169165951	169165951	A	G	1	0	0	0	0	0	0	0	1	8851	175	7	5		5	LRP2	2	169165951	Silent	SNP	A	C3L-00144_TP	1917157	169165951	73027578	279	4558											
EVX2	0	.	GRCh38	chr2	176083379	176083379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttttccttaagctgagcgGcgccgaggcccccgggggag	5	8	16	12	4	0	1	0	1	0	0	1	3	1	2	4	4	2	2	4	4	1	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.398C>A	p.Ala133Asp	p.A133D	ENST00000308618	1/3	178	142	36	157	157	0	strelka-varscan-mutect	EVX2,missense_variant,p.Ala133Asp,ENST00000308618,NM_001080458.1;	T	ENST00000308618	Transcript	missense_variant	535/4203	398/1431	133/476	A/D	gCc/gAc		1		-1	EVX2	HGNC	HGNC:3507	protein_coding	YES	CCDS33333.1	ENSP00000312385	Q03828		UPI000012A2AF	NM_001080458.1	tolerated(0.06)		1/3																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	176083379	176083379	G	T	1	0	0	0	0	1	0	0	0	5162	1203	42	2		2	EVX2	2	176083379	Missense_Mutation	SNP	G	C3L-00144_TP	6917428	176083379	66110150	280	4559											
HOXD8	0	.	GRCh38	chr2	176131324	176131324	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttaatcagcagctccTggtagacgaagaggaagaca	13	10	11	7	1	1	3	1	0	0	3	2	5	2	4	1	2	2	4	1	2	4	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.585T>A	p.=	p.P195P	ENST00000313173	2/2	82	67	15	70	70	0	strelka-varscan-mutect	HOXD8,synonymous_variant,p.=,ENST00000313173,NM_019558.3;HOXD8,synonymous_variant,p.=,ENST00000429017,NM_001199747.1;HOXD8,synonymous_variant,p.=,ENST00000450510,NM_001199746.1;HOXD8,synonymous_variant,p.=,ENST00000544999,;HOXD-AS2,intron_variant,,ENST00000440016,;HOXD-AS2,downstream_gene_variant,,ENST00000426965,;	A	ENST00000313173	Transcript	synonymous_variant	1212/1917	585/873	195/290	P	ccT/ccA		1		1	HOXD8	HGNC	HGNC:5139	protein_coding	YES	CCDS2268.1	ENSP00000315949	P13378		UPI000012CF8B	NM_019558.3			2/2		Gene3D:1.10.10.60,PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF110,Low_complexity_(Seg):seg,Superfamily_domains:SSF46689																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	12	176131324	176131324	T	A	1	0	0	0	0	0	0	0	1	7219	1567	55	4		4	HOXD8	2	176131324	Silent	SNP	T	C3L-00144_TP	47945	176131324	66062205	281	4560											
RBM45	0	.	GRCh38	chr2	178124196	178124196	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtacttccatcatgcaaaAaaaaagctcctgctgaaact	15	11	5	10	0	1	1	1	1	0	0	3	1	3	1	2	0	5	4	2	0	6	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1138A>G	p.Lys380Glu	p.K380E	ENST00000286070	8/10	156	129	27	138	138	0	strelka-varscan-mutect	RBM45,missense_variant,p.Lys41Glu,ENST00000455903,;RBM45,missense_variant,p.Lys382Glu,ENST00000616198,;RBM45,missense_variant,p.Lys380Glu,ENST00000286070,NM_152945.2;RBM45,upstream_gene_variant,,ENST00000424099,;RBM45,upstream_gene_variant,,ENST00000464647,;RBM45,non_coding_transcript_exon_variant,,ENST00000424000,;RBM45,non_coding_transcript_exon_variant,,ENST00000493048,;	G	ENST00000286070	Transcript	missense_variant	1230/1785	1138/1425	380/474	K/E	Aaa/Gaa		1		1	RBM45	HGNC	HGNC:24468	protein_coding	YES	CCDS33335.1	ENSP00000286070	Q8IUH3		UPI00001AEAD8	NM_152945.2	tolerated(0.1)		8/10																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	178124196	178124196	A	G	1	0	0	0	0	1	0	0	0	13305	15	1	5		5	RBM45	2	178124196	Missense_Mutation	SNP	A	C3L-00144_TP	1992872	178124196	64069333	282	4561											
PLEKHA3	0	.	GRCh38	chr2	178501117	178501117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgactctcccagcgacGccgaagaacctactcagata	12	6	7	16	4	3	2	2	0	1	2	4	5	3	2	4	0	3	0	4	0	4	2	rs755002136		C3L-00144_TP	C3L-00144_NB	G	G																c.716G>T	p.Arg239Leu	p.R239L	ENST00000234453	7/8	265	217	48	217	217	0	strelka-varscan-mutect	PLEKHA3,missense_variant,p.Arg239Leu,ENST00000234453,NM_019091.3;PLEKHA3,missense_variant,p.Arg48Leu,ENST00000421187,;	T	ENST00000234453	Transcript	missense_variant	1118/13880	716/903	239/300	R/L	cGc/cTc	rs755002136	1		1	PLEKHA3	HGNC	HGNC:14338	protein_coding	YES	CCDS33336.1	ENSP00000234453	Q9HB20		UPI000000DA8A	NM_019091.3	deleterious(0.01)		7/8																			MODERATE	1	SNV	1			1										PASS		rs755002136	.												T	3	4	12	178501117	178501117	G	T	1	0	0	0	0	1	0	0	0	12150	1087	38	1		1	PLEKHA3	2	178501117	Missense_Mutation	SNP	G	C3L-00144_TP	376921	178501117	63692412	283	4562											
TTN	0	.	GRCh38	chr2	178544052	178544052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagacaccatcaagcgcaagGaggccccagccctgatggtc	11	4	11	15	1	1	2	1	1	0	1	2	3	1	3	4	3	2	1	4	3	2	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.96092C>A	p.Ser32031Tyr	p.S32031Y	ENST00000589042	346/363	144	110	34	125	123	2	strelka-varscan-mutect	TTN,missense_variant,p.Ser32031Tyr,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Ser30390Tyr,ENST00000591111,;TTN,missense_variant,p.Ser30390Tyr,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Ser29463Tyr,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Ser22966Tyr,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Ser23158Tyr,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Ser23091Tyr,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.2,upstream_gene_variant,,ENST00000603415,;TTN-AS1,downstream_gene_variant,,ENST00000431259,;TTN-AS1,downstream_gene_variant,,ENST00000588804,;TTN-AS1,downstream_gene_variant,,ENST00000589434,;TTN-AS1,downstream_gene_variant,,ENST00000590040,;RP11-65L3.4,downstream_gene_variant,,ENST00000604692,;	T	ENST00000589042	Transcript	missense_variant	96317/109224	96092/107976	32031/35991	S/Y	tCc/tAc		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			346/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	12	178544052	178544052	G	T	1	0	0	0	0	1	0	0	0	17245	1174	41	2		2	TTN	2	178544052	Missense_Mutation	SNP	G	C3L-00144_TP	42935	178544052	63649477	284	4563											
TTN	0	.	GRCh38	chr2	178552920	178552920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctccgacaaatctattaGcttgaaggatgtgctagaac	12	12	8	9	1	2	2	0	1	2	1	3	4	2	3	1	1	3	2	1	1	6	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.89980C>A	p.Leu29994Ile	p.L29994I	ENST00000589042	335/363	296	256	40	258	257	1	strelka-varscan-mutect	TTN,missense_variant,p.Leu29994Ile,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Leu28353Ile,ENST00000591111,;TTN,missense_variant,p.Leu28353Ile,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Leu27426Ile,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Leu20929Ile,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Leu21121Ile,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Leu21054Ile,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.2,downstream_gene_variant,,ENST00000603415,;RP11-65L3.3,upstream_gene_variant,,ENST00000624360,;	T	ENST00000589042	Transcript	missense_variant	90205/109224	89980/107976	29994/35991	L/I	Cta/Ata		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			335/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	12	178552920	178552920	G	T	1	0	0	0	0	1	0	0	0	17245	962	34	2		2	TTN	2	178552920	Missense_Mutation	SNP	G	C3L-00144_TP	8868	178552920	63640609	285	4564											
TTN	0	.	GRCh38	chr2	178552933	178552933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctattagcttgaaggatgtGctagaacatttgtgtgacac	11	14	10	6	0	1	3	0	2	1	1	1	4	1	4	0	1	3	2	0	1	5	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.89967C>A	p.Ser29989Arg	p.S29989R	ENST00000589042	335/363	310	270	40	250	250	0	strelka-varscan-mutect	TTN,missense_variant,p.Ser29989Arg,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Ser28348Arg,ENST00000591111,;TTN,missense_variant,p.Ser28348Arg,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Ser27421Arg,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Ser20924Arg,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Ser21116Arg,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Ser21049Arg,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.2,downstream_gene_variant,,ENST00000603415,;RP11-65L3.3,upstream_gene_variant,,ENST00000624360,;	T	ENST00000589042	Transcript	missense_variant	90192/109224	89967/107976	29989/35991	S/R	agC/agA		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			335/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	12	178552933	178552933	G	T	1	0	0	0	0	1	0	0	0	17245	1310	46	2		2	TTN	2	178552933	Missense_Mutation	SNP	G	C3L-00144_TP	13	178552933	63640596	286	4565											
TTN	0	.	GRCh38	chr2	178612410	178612410	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtgcacttggtgtccttGacagtggtatccactgtttg	6	15	11	9	0	0	1	0	1	0	0	2	1	2	1	2	2	1	3	2	2	1	4			C3L-00144_TP	C3L-00144_NB	G	G																c.50115C>G	p.=	p.V16705V	ENST00000589042	266/363	510	378	132	364	364	0	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.4;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;RP11-171I2.4,upstream_gene_variant,,ENST00000605334,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000627527,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000610290,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000589830,;	C	ENST00000589042	Transcript	synonymous_variant	50340/109224	50115/107976	16705/35991	V	gtC/gtG	COSM1482397,COSM1482398,COSM1482399,COSM1482400	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			266/363		Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265											1,1,1,1						LOW	1	SNV	5		1,1,1,1	1										PASS		.	.												C	2	2	12	178612410	178612410	G	C	1	0	0	0	0	0	0	0	1	17245	1277	45	4		4	TTN	2	178612410	Silent	SNP	G	C3L-00144_TP	59477	178612410	63581119	287	4566											
TTN	0	.	GRCh38	chr2	178652271	178652271	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtgtctaccttttgtGggtggcacttcaggcttttt	4	17	13	7	0	2	1	1	1	1	0	2	1	2	1	1	4	1	2	1	4	1	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.39204C>A	p.=	p.P13068P	ENST00000589042	203/363	523	386	137	433	433	0	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,upstream_gene_variant,,ENST00000446966,;TTN,upstream_gene_variant,,ENST00000426232,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;	T	ENST00000589042	Transcript	synonymous_variant	39429/109224	39204/107976	13068/35991	P	ccC/ccA		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			203/363		Low_complexity_(Seg):seg,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10																	LOW	1	SNV	5			1										PASS		rs748388695	.												T	2	4	12	178652271	178652271	G	T	1	0	0	0	0	0	0	0	1	17245	1335	47	2		2	TTN	2	178652271	Silent	SNP	G	C3L-00144_TP	39861	178652271	63541258	288	4567											
TTN	0	.	GRCh38	chr2	178672082	178672082	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttcaactctatgttgttCtaatttgatgaattcttcta	9	21	4	7	0	6	2	1	2	5	0	6	2	6	2	0	0	1	2	0	0	5	10	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.35116G>C	p.Glu11706Gln	p.E11706Q	ENST00000589042	155/363	412	335	77	331	331	0	strelka-varscan-mutect	TTN,missense_variant,p.Glu11706Gln,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Glu11332Gln,ENST00000591111,;TTN,missense_variant,p.Glu11332Gln,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Glu10405Gln,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Glu67Gln,ENST00000448510,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,upstream_gene_variant,,ENST00000425332,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;	G	ENST00000589042	Transcript	missense_variant	35341/109224	35116/107976	11706/35991	E/Q	Gaa/Caa		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			155/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	12	178672082	178672082	C	G	1	0	0	0	0	1	0	0	0	17245	922	32	4		4	TTN	2	178672082	Missense_Mutation	SNP	C	C3L-00144_TP	19811	178672082	63521447	289	4568											
TTN	0	.	GRCh38	chr2	178709625	178709625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcattggacactttgcatGtgtacaaaccagcgtcgttc	10	12	8	11	2	1	0	1	0	0	0	3	1	1	1	1	1	4	3	1	1	2	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.28694C>A	p.Thr9565Lys	p.T9565K	ENST00000589042	99/363	209	158	51	125	125	0	strelka-varscan-mutect	TTN,missense_variant,p.Thr9565Lys,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Thr9248Lys,ENST00000591111,;TTN,missense_variant,p.Thr9248Lys,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Thr8321Lys,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;	T	ENST00000589042	Transcript	missense_variant	28919/109224	28694/107976	9565/35991	T/K	aCa/aAa		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			99/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF10,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs1423863240	.												T	3	4	12	178709625	178709625	G	T	1	0	0	0	0	1	0	0	0	17245	1377	48	2		2	TTN	2	178709625	Missense_Mutation	SNP	G	C3L-00144_TP	37543	178709625	63483904	290	4569											
TTN	0	.	GRCh38	chr2	178709772	178709772	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggttgggaaccagccacaCgtccctcaagtttgaaagaa	13	8	10	10	1	1	2	1	1	0	1	2	3	2	3	3	2	2	2	3	2	5	3	rs374156904		C3L-00144_TP	C3L-00144_NB	C	C																c.28547G>T	p.Arg9516Leu	p.R9516L	ENST00000589042	99/363	288	243	45	192	192	0	strelka-varscan-mutect	TTN,missense_variant,p.Arg9516Leu,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Arg9199Leu,ENST00000591111,;TTN,missense_variant,p.Arg9199Leu,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Arg8272Leu,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;	A	ENST00000589042	Transcript	missense_variant	28772/109224	28547/107976	9516/35991	R/L	cGt/cTt	rs374156904	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			99/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF10,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726										not_provided,likely_benign							MODERATE	1	SNV	5		1	1										PASS		rs374156904	.												A	3	1	12	178709772	178709772	C	A	1	0	0	0	0	1	0	0	0	17245	536	19	1		1	TTN	2	178709772	Missense_Mutation	SNP	C	C3L-00144_TP	147	178709772	63483757	291	4570											
TTN	0	.	GRCh38	chr2	178719237	178719237	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacgtgtatatgcctgtGtcggagggctccaacaagct	10	9	11	11	2	0	0	0	0	0	0	2	1	1	1	2	2	3	3	2	2	4	2	rs368438797		C3L-00144_TP	C3L-00144_NB	G	G																c.24153C>A	p.Asp8051Glu	p.D8051E	ENST00000589042	83/363	203	159	44	119	119	0	strelka-varscan-mutect	TTN,missense_variant,p.Asp8051Glu,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Asp7734Glu,ENST00000591111,;TTN,missense_variant,p.Asp7734Glu,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Asp6807Glu,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,;TTN-AS1,downstream_gene_variant,,ENST00000431752,;	T	ENST00000589042	Transcript	missense_variant	24378/109224	24153/107976	8051/35991	D/E	gaC/gaA	rs368438797	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			83/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs368438797	.												T	3	4	12	178719237	178719237	G	T	1	0	0	0	0	1	0	0	0	17245	1368	48	2		2	TTN	2	178719237	Missense_Mutation	SNP	G	C3L-00144_TP	9465	178719237	63474292	292	4571											
TTN	0	.	GRCh38	chr2	178719408	178719408	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcccccaggatggcattCacgtctttcagcttgcggat	7	10	12	12	2	3	0	2	0	1	0	3	3	3	2	2	4	2	2	2	4	0	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.23982G>T	p.=	p.V7994V	ENST00000589042	83/363	107	78	29	104	104	0	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,;	A	ENST00000589042	Transcript	synonymous_variant	24207/109224	23982/107976	7994/35991	V	gtG/gtT		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			83/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	12	178719408	178719408	C	A	1	0	0	0	0	0	0	0	1	17245	813	29	2		2	TTN	2	178719408	Silent	SNP	C	C3L-00144_TP	171	178719408	63474121	293	4572											
TTN	0	.	GRCh38	chr2	178727782	178727782	+	Frame_Shift_Del	DEL	C	C	-																															ttattttaaatggtggtgttCcttttagtattgccttaaat																										C3L-00144_TP	C3L-00144_NB	C	C																c.19796delG	p.Gly6599GlufsTer7	p.G6599Efs*7	ENST00000589042	68/363	113	93	20	91	91	0	sindel-varindel-pindel	TTN,frameshift_variant,p.Gly6599GlufsTer7,ENST00000589042,NM_001267550.2;TTN,frameshift_variant,p.Gly6282GlufsTer7,ENST00000591111,;TTN,frameshift_variant,p.Gly6282GlufsTer7,ENST00000615779,NM_001256850.1;TTN,frameshift_variant,p.Gly5355GlufsTer7,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;RP11-171I2.1,downstream_gene_variant,,ENST00000590024,;	-	ENST00000589042	Transcript	frameshift_variant	20021/109224	19796/107976	6599/35991	G/X	gGa/ga	COSM5395467,COSM5395468	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			68/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1						HIGH	1	deletion	5		1,1	1										PASS		.	.												-	7	5	12	178727782	178727782	C	-	1	0	1	0	1	0	0	0	0	17245	855	30	0		0	TTN	2	178727782	Frame_Shift_Del	DEL	C	C3L-00144_TP	8374	178727782	63465747	294	4573											
TTN	0	.	GRCh38	chr2	178732446	178732446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacaatgcaaaccttttaCaaacaagtttgcactgcatt	17	11	4	9	0	0	0	0	0	0	0	0	0	0	0	1	0	7	4	1	0	7	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.16615G>T	p.Val5539Leu	p.V5539L	ENST00000589042	56/363	71	57	14	71	71	0	strelka-varscan-mutect	TTN,missense_variant,p.Val5539Leu,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Val5222Leu,ENST00000591111,;TTN,missense_variant,p.Val5222Leu,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Val4295Leu,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;TTN-AS1,upstream_gene_variant,,ENST00000627661,;	A	ENST00000589042	Transcript	missense_variant	16840/109224	16615/107976	5539/35991	V/L	Gta/Tta		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			56/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	178732446	178732446	C	A	1	0	0	0	0	1	0	0	0	17245	478	17	2		2	TTN	2	178732446	Missense_Mutation	SNP	C	C3L-00144_TP	4664	178732446	63461083	295	4574											
TTN	0	.	GRCh38	chr2	178758983	178758983	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgaaagttgttttactttaCcttccagactcaggttggct	8	16	8	9	0	1	2	1	1	0	1	2	2	2	2	2	2	2	4	2	2	3	7	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.10303+1G>A		p.X3435_splice	ENST00000589042		341	270	71	292	292	0	strelka-varscan-mutect	TTN,splice_donor_variant,,ENST00000589042,NM_001267550.2;TTN,splice_donor_variant,,ENST00000591111,;TTN,splice_donor_variant,,ENST00000615779,NM_001256850.1;TTN,splice_donor_variant,,ENST00000342992,NM_133378.4;TTN,splice_donor_variant,,ENST00000460472,NM_003319.4;TTN,splice_donor_variant,,ENST00000342175,NM_133437.4;TTN,splice_donor_variant,,ENST00000359218,NM_133432.3;TTN,splice_donor_variant,,ENST00000360870,NM_133379.4;TTN,splice_donor_variant,,ENST00000634225,;TTN-AS1,splice_region_variant,,ENST00000627661,;TTN-AS1,splice_region_variant,,ENST00000578746,;TTN-AS1,splice_region_variant,,ENST00000590773,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000610005,;TTN-AS1,intron_variant,,ENST00000585451,;	T	ENST00000589042	Transcript	splice_donor_variant	-/109224	10303/107976	3435/35991				1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2				44/362																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	12	178758983	178758983	C	T	1	0	0	0	0	0	0	1	0	17245	521	18	3		3	TTN	2	178758983	Splice_Site	SNP	C	C3L-00144_TP	26537	178758983	63434546	296	4575											
TTN	0	.	GRCh38	chr2	178769747	178769747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtattctgccgagtcctctGtgctggtgttcatgatgatc	5	16	11	9	1	3	2	1	2	2	0	5	3	4	2	2	1	2	3	2	1	1	3			C3L-00144_TP	C3L-00144_NB	G	G																c.8834C>A	p.Thr2945Lys	p.T2945K	ENST00000589042	37/363	366	293	73	254	254	0	strelka-varscan-mutect	TTN,missense_variant,p.Thr2945Lys,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Thr2945Lys,ENST00000591111,;TTN,missense_variant,p.Thr2945Lys,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Thr2945Lys,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Thr2899Lys,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Thr2899Lys,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Thr2899Lys,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Thr2945Lys,ENST00000360870,NM_133379.4;TTN,upstream_gene_variant,,ENST00000634225,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,upstream_gene_variant,,ENST00000584485,;TTN-AS1,upstream_gene_variant,,ENST00000629094,;	T	ENST00000589042	Transcript	missense_variant	9059/109224	8834/107976	2945/35991	T/K	aCa/aAa	COSM5694197,COSM5694198,COSM5694199,COSM5694200,COSM5694202	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			37/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1,1,1,1						MODERATE	1	SNV	5		1,1,1,1,1	1										PASS		.	.												T	3	4	12	178769747	178769747	G	T	1	0	0	0	0	1	0	0	0	17245	1377	48	2		2	TTN	2	178769747	Missense_Mutation	SNP	G	C3L-00144_TP	10764	178769747	63423782	297	4576											
ITGA4	0	.	GRCh38	chr2	181475834	181475834	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctataggtagcatcagcaagTacagagctaggacataacag	16	7	10	8	0	1	1	1	0	0	1	1	2	1	2	0	2	5	5	0	2	7	6	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.571T>G	p.Tyr191Asp	p.Y191D	ENST00000339307	5/5	189	159	30	140	140	0	strelka-varscan-mutect	ITGA4,missense_variant,p.Tyr191Asp,ENST00000339307,;ITGA4,intron_variant,,ENST00000397033,NM_000885.4;ITGA4,intron_variant,,ENST00000233573,;ITGA4,intron_variant,,ENST00000478440,;ITGA4,intron_variant,,ENST00000465522,;ITGA4,downstream_gene_variant,,ENST00000484404,;	G	ENST00000339307	Transcript	missense_variant	1019/1403	571/588	191/195	Y/D	Tac/Gac		1		1	ITGA4	HGNC	HGNC:6140	protein_coding			ENSP00000340149	P13612		UPI00001B5D25		deleterious(0)		5/5																			MODERATE		SNV	1			1										PASS		.	.												G	3	3	12	181475834	181475834	T	G	1	0	0	0	0	1	0	0	0	7785	1638	57	5		5	ITGA4	2	181475834	Missense_Mutation	SNP	T	C3L-00144_TP	2706087	181475834	60717695	298	4577											
FSIP2	0	.	GRCh38	chr2	185743218	185743218	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagcctccatgatccacAtttaaaagcatactataagc	17	10	4	10	0	0	1	0	1	0	0	2	1	2	1	3	0	4	1	3	0	7	6	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.578A>T	p.His193Leu	p.H193L	ENST00000343098	3/23	168	140	28	119	117	2	strelka-varscan-mutect	FSIP2,missense_variant,p.His193Leu,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.His104Leu,ENST00000424728,;AC007966.1,upstream_gene_variant,,ENST00000421998,;AC007966.1,upstream_gene_variant,,ENST00000427269,;AC007966.1,upstream_gene_variant,,ENST00000437717,;FSIP2,non_coding_transcript_exon_variant,,ENST00000465275,;FSIP2,non_coding_transcript_exon_variant,,ENST00000469367,;FSIP2,upstream_gene_variant,,ENST00000429412,;	T	ENST00000343098	Transcript	missense_variant	578/21054	578/20991	193/6996	H/L	cAt/cTt		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	deleterious(0)		3/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	12	185743218	185743218	A	T	1	0	0	0	0	1	0	0	0	5949	217	8	4		4	FSIP2	2	185743218	Missense_Mutation	SNP	A	C3L-00144_TP	4267384	185743218	56450311	299	4578											
FSIP2	0	.	GRCh38	chr2	185756249	185756249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgttagtttatcctgctgGagaccagaatacatataaag	15	12	8	6	0	0	2	0	0	0	2	1	3	1	2	2	1	2	3	2	1	8	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1316G>T	p.Gly439Val	p.G439V	ENST00000343098	9/23	72	61	11	95	95	0	strelka-varscan-mutect	FSIP2,missense_variant,p.Gly439Val,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Gly350Val,ENST00000424728,;FSIP2,intron_variant,,ENST00000429412,;	T	ENST00000343098	Transcript	missense_variant	1316/21054	1316/20991	439/6996	G/V	gGa/gTa		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	deleterious(0.01)		9/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	185756249	185756249	G	T	1	0	0	0	0	1	0	0	0	5949	1174	41	2		2	FSIP2	2	185756249	Missense_Mutation	SNP	G	C3L-00144_TP	13031	185756249	56437280	300	4579											
FSIP2	0	.	GRCh38	chr2	185788726	185788726	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtatattgtacccagcCatcacaaagtatgaaaaaag	18	8	6	9	0	1	1	1	1	0	0	1	1	1	1	3	0	2	3	3	0	8	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1857C>A	p.=	p.A619A	ENST00000343098	16/23	103	83	20	80	80	0	strelka-varscan-mutect	FSIP2,synonymous_variant,p.=,ENST00000343098,NM_173651.2;FSIP2,synonymous_variant,p.=,ENST00000424728,;FSIP2-AS1,intron_variant,,ENST00000436557,;FSIP2-AS1,intron_variant,,ENST00000429929,;	A	ENST00000343098	Transcript	synonymous_variant	1857/21054	1857/20991	619/6996	A	gcC/gcA		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2			16/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	LOW		SNV	5			1										PASS		.	.												A	2	1	12	185788726	185788726	C	A	1	0	0	0	0	0	0	0	1	5949	581	21	2		2	FSIP2	2	185788726	Silent	SNP	C	C3L-00144_TP	32477	185788726	56404803	301	4580											
FSIP2	0	.	GRCh38	chr2	185792897	185792897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaatctagctgaagatattGtacaggcaatattaacaaat	18	12	6	5	0	1	2	0	1	1	1	1	2	1	2	0	1	3	3	0	1	10	7	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.6028G>T	p.Val2010Leu	p.V2010L	ENST00000343098	16/23	106	88	18	93	93	0	strelka-varscan-mutect	FSIP2,missense_variant,p.Val2010Leu,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Val1921Leu,ENST00000424728,;FSIP2-AS1,intron_variant,,ENST00000436557,;FSIP2-AS1,intron_variant,,ENST00000429929,;FSIP2,upstream_gene_variant,,ENST00000415915,;	T	ENST00000343098	Transcript	missense_variant	6028/21054	6028/20991	2010/6996	V/L	Gta/Tta		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	deleterious(0)		16/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	12	185792897	185792897	G	T	1	0	0	0	0	1	0	0	0	5949	1377	48	2		2	FSIP2	2	185792897	Missense_Mutation	SNP	G	C3L-00144_TP	4171	185792897	56400632	302	4581											
FSIP2	0	.	GRCh38	chr2	185804511	185804511	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagaaatatatgattatCaagtgcagtcattagtttca	15	14	8	4	0	3	2	3	1	0	1	3	3	3	3	0	1	1	2	0	1	7	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.15472C>T	p.Gln5158Ter	p.Q5158*	ENST00000343098	17/23	77	69	8	73	73	0	strelka-varscan-mutect	FSIP2,stop_gained,p.Gln5158Ter,ENST00000343098,NM_173651.2;FSIP2,stop_gained,p.Gln5069Ter,ENST00000424728,;FSIP2,upstream_gene_variant,,ENST00000611759,;FSIP2-AS1,upstream_gene_variant,,ENST00000436557,;FSIP2-AS1,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;	T	ENST00000343098	Transcript	stop_gained	15472/21054	15472/20991	5158/6996	Q/*	Caa/Taa		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2			17/23		Pfam_domain:PF15783,Pfam_domain:PF15783,hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	HIGH		SNV	5			1										PASS		.	.												T	4	4	12	185804511	185804511	C	T	1	0	0	0	0	0	1	0	0	5949	827	29	3		3	FSIP2	2	185804511	Nonsense_Mutation	SNP	C	C3L-00144_TP	11614	185804511	56389018	303	4582											
FSIP2	0	.	GRCh38	chr2	185806945	185806945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aactacagatgaagcaccatCcagcattaagataaaatctg	18	8	6	9	0	1	3	0	1	1	2	2	3	2	3	2	0	4	2	2	0	6	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.17906C>A	p.Ser5969Tyr	p.S5969Y	ENST00000343098	17/23	146	114	32	153	153	0	strelka-varscan-mutect	FSIP2,missense_variant,p.Ser5969Tyr,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Ser5880Tyr,ENST00000424728,;FSIP2,missense_variant,p.Ser87Tyr,ENST00000611759,;FSIP2,intron_variant,,ENST00000415915,;	A	ENST00000343098	Transcript	missense_variant	17906/21054	17906/20991	5969/6996	S/Y	tCc/tAc		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	tolerated(0.11)		17/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	185806945	185806945	C	A	1	0	0	0	0	1	0	0	0	5949	855	30	2		2	FSIP2	2	185806945	Missense_Mutation	SNP	C	C3L-00144_TP	2434	185806945	56386584	304	4583											
COL3A1	0	.	GRCh38	chr2	188997701	188997701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatcattatacttttctaggGgcctggtggtgacaaaggag	10	13	12	6	0	2	1	1	1	1	0	2	2	2	2	1	5	1	0	1	5	5	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1871G>T	p.Gly624Val	p.G624V	ENST00000304636	27/51	274	219	55	269	268	1	strelka-varscan-mutect	COL3A1,missense_variant,p.Gly624Val,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Gly624Val,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000450867,;COL3A1,downstream_gene_variant,,ENST00000637672,;	T	ENST00000304636	Transcript	missense_variant,splice_region_variant	2041/5543	1871/4401	624/1466	G/V	gGg/gTg		1		1	COL3A1	HGNC	HGNC:2201	protein_coding	YES	CCDS2297.1	ENSP00000304408	P02461		UPI0000456EBA	NM_000090.3	deleterious(0)		27/51		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	188997701	188997701	G	T	1	0	0	0	0	1	0	0	0	3477	1246	43	2		2	COL3A1	2	188997701	Missense_Mutation	SNP	G	C3L-00144_TP	3190756	188997701	53195828	305	4584											
SLC40A1	0	.	GRCh38	chr2	189561928	189561928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctaacttcttttgcatCaggaccgcaagcaaagagct	11	11	7	12	1	2	1	1	0	1	1	3	2	3	2	2	1	4	4	2	1	3	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1666G>T	p.Asp556Tyr	p.D556Y	ENST00000261024	8/8	319	264	55	222	221	1	strelka-varscan-mutect	SLC40A1,missense_variant,p.Asp556Tyr,ENST00000261024,NM_014585.5;SLC40A1,downstream_gene_variant,,ENST00000427241,;	A	ENST00000261024	Transcript	missense_variant	2093/3442	1666/1716	556/571	D/Y	Gat/Tat		1		-1	SLC40A1	HGNC	HGNC:10909	protein_coding	YES	CCDS2299.1	ENSP00000261024	Q9NP59		UPI0000034CC2	NM_014585.5	deleterious_low_confidence(0.02)		8/8		hmmpanther:PTHR11660,hmmpanther:PTHR11660:SF47																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	189561928	189561928	C	A	1	0	0	0	0	1	0	0	0	14906	826	29	2		2	SLC40A1	2	189561928	Missense_Mutation	SNP	C	C3L-00144_TP	564227	189561928	52631601	306	4585											
DNAH7	0	.	GRCh38	chr2	195910149	195910149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcccagtgccagctggacCctcaggtgctcctccaaggt	6	9	10	16	0	1	0	1	0	0	0	4	1	4	1	5	3	3	2	5	3	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3982G>T	p.Gly1328Cys	p.G1328C	ENST00000312428	25/65	212	155	57	181	181	0	strelka-varscan-mutect	DNAH7,missense_variant,p.Gly1328Cys,ENST00000312428,NM_018897.2;DNAH7,upstream_gene_variant,,ENST00000475293,;	A	ENST00000312428	Transcript	missense_variant	4083/12394	3982/12075	1328/4024	G/C	Ggt/Tgt		1		-1	DNAH7	HGNC	HGNC:18661	protein_coding	YES	CCDS42794.1	ENSP00000311273	Q8WXX0		UPI0000141B95	NM_018897.2	deleterious(0)		25/65		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF12774,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	195910149	195910149	C	A	1	0	0	0	0	1	0	0	0	4421	623	22	2		2	DNAH7	2	195910149	Missense_Mutation	SNP	C	C3L-00144_TP	6348221	195910149	46283380	307	4586											
DNAH7	0	.	GRCh38	chr2	196012872	196012872	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctaatgcatcctggcaatTatgaaattctttgatatcaa	13	15	5	8	0	3	2	1	2	2	0	4	2	4	2	1	1	1	2	1	1	6	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.904A>T	p.Asn302Tyr	p.N302Y	ENST00000312428	10/65	123	99	24	116	116	0	strelka-varscan-mutect	DNAH7,missense_variant,p.Asn302Tyr,ENST00000312428,NM_018897.2;DNAH7,missense_variant,p.Asn302Tyr,ENST00000410072,;	A	ENST00000312428	Transcript	missense_variant	1005/12394	904/12075	302/4024	N/Y	Aat/Tat		1		-1	DNAH7	HGNC	HGNC:18661	protein_coding	YES	CCDS42794.1	ENSP00000311273	Q8WXX0		UPI0000141B95	NM_018897.2	deleterious(0.02)		10/65		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	196012872	196012872	T	A	1	0	0	0	0	1	0	0	0	4421	1754	61	4		4	DNAH7	2	196012872	Missense_Mutation	SNP	T	C3L-00144_TP	102723	196012872	46180657	308	4587											
SF3B1	0	.	GRCh38	chr2	197398117	197398117	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatacatattcagctcccCtaatttaaaaaatacacata	18	11	2	10	0	1	1	1	0	0	1	2	1	2	1	2	0	3	1	2	0	8	8	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3135-1G>T		p.X1045_splice	ENST00000335508		176	148	28	114	114	0	strelka-varscan-mutect	SF3B1,splice_acceptor_variant,,ENST00000335508,NM_012433.2;SF3B1,splice_acceptor_variant,,ENST00000424674,;SF3B1,downstream_gene_variant,,ENST00000462613,;SF3B1,splice_acceptor_variant,,ENST00000496458,;SF3B1,upstream_gene_variant,,ENST00000479532,;	A	ENST00000335508	Transcript	splice_acceptor_variant	-/6526	3135/3915	1045/1304				1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2				21/24																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	12	197398117	197398117	C	A	1	0	0	0	0	0	0	1	0	14428	695	24	2		2	SF3B1	2	197398117	Splice_Site	SNP	C	C3L-00144_TP	1385245	197398117	44795412	309	4588											
PLCL1	0	.	GRCh38	chr2	198084007	198084007	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcttgatatttctgccataAaagagatcagactggggaaa	15	10	10	6	0	2	3	1	1	1	2	2	5	2	4	1	2	2	1	1	2	4	4	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.490A>G	p.Lys164Glu	p.K164E	ENST00000428675	2/6	293	238	55	225	225	0	strelka-varscan-mutect	PLCL1,missense_variant,p.Lys87Glu,ENST00000437704,;PLCL1,missense_variant,p.Lys164Glu,ENST00000428675,NM_006226.3;PLCL1,missense_variant,p.Lys90Glu,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	G	ENST00000428675	Transcript	missense_variant	888/5125	490/3288	164/1095	K/E	Aaa/Gaa		1		1	PLCL1	HGNC	HGNC:9063	protein_coding	YES	CCDS2326.2	ENSP00000402861	Q15111		UPI000165BCF5	NM_006226.3	deleterious(0)		2/6		PROSITE_profiles:PS50003,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF102,Pfam_domain:PF16457,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	198084007	198084007	A	G	1	0	0	0	0	1	0	0	0	12133	15	1	5		5	PLCL1	2	198084007	Missense_Mutation	SNP	A	C3L-00144_TP	685890	198084007	44109522	310	4589											
AOX1	0	.	GRCh38	chr2	200615974	200615974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggttctacttttcaggatCcagttcactatcctagcctt	8	16	6	11	0	3	0	2	0	1	0	5	1	5	1	3	2	2	2	3	2	3	8	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1615C>A	p.Pro539Thr	p.P539T	ENST00000374700	16/35	120	94	26	63	63	0	varscan-mutect	AOX1,missense_variant,p.Pro539Thr,ENST00000374700,NM_001159.3;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;AOX1,downstream_gene_variant,,ENST00000485965,;	A	ENST00000374700	Transcript	missense_variant	1856/5074	1615/4017	539/1338	P/T	Cca/Aca		1		1	AOX1	HGNC	HGNC:553	protein_coding	YES	CCDS33360.1	ENSP00000363832	Q06278		UPI0000071863	NM_001159.3	tolerated(0.12)		16/35		hmmpanther:PTHR11908:SF86,hmmpanther:PTHR11908,PIRSF_domain:PIRSF000127,TIGRFAM_domain:TIGR02969																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	200615974	200615974	C	A	1	0	0	0	0	1	0	0	0	839	869	30	2		2	AOX1	2	200615974	Missense_Mutation	SNP	C	C3L-00144_TP	2531967	200615974	41577555	311	4590											
AOX1	0	.	GRCh38	chr2	200669632	200669632	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttttcgctatccatgacGcagtgagtgcagcacgacag	9	11	11	10	3	0	2	0	2	0	0	2	3	1	2	1	0	2	5	1	0	1	3	rs371463224		C3L-00144_TP	C3L-00144_NB	G	G																c.3856G>C	p.Ala1286Pro	p.A1286P	ENST00000374700	34/35	235	175	60	172	172	0	strelka-varscan-mutect	AOX1,missense_variant,p.Ala1286Pro,ENST00000374700,NM_001159.3;AOX1,missense_variant,p.Ala126Pro,ENST00000439380,;AOX1,missense_variant,p.Ala150Pro,ENST00000260930,;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;	C	ENST00000374700	Transcript	missense_variant	4097/5074	3856/4017	1286/1338	A/P	Gca/Cca	rs371463224	1		1	AOX1	HGNC	HGNC:553	protein_coding	YES	CCDS33360.1	ENSP00000363832	Q06278		UPI0000071863	NM_001159.3	deleterious(0)		34/35		hmmpanther:PTHR11908:SF86,hmmpanther:PTHR11908,Gene3D:3.30.365.10,PIRSF_domain:PIRSF000127,TIGRFAM_domain:TIGR02969,Superfamily_domains:SSF56003																	MODERATE	1	SNV	1			1										PASS		rs371463224	.												C	3	2	12	200669632	200669632	G	C	1	0	0	0	0	1	0	0	0	839	1087	38	4		4	AOX1	2	200669632	Missense_Mutation	SNP	G	C3L-00144_TP	53658	200669632	41523897	312	4591											
BMPR2	0	.	GRCh38	chr2	202556092	202556092	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtcaccatgaatggtgtGgcaggtagaaaccacagtgt	13	8	12	8	0	1	2	1	1	0	1	1	2	1	2	2	3	1	2	2	3	3	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2427G>T	p.=	p.V809V	ENST00000374580	12/13	302	247	55	250	250	0	strelka-varscan-mutect	BMPR2,synonymous_variant,p.=,ENST00000374580,NM_001204.6;BMPR2,intron_variant,,ENST00000374574,;	T	ENST00000374580	Transcript	synonymous_variant	2966/11461	2427/3117	809/1038	V	gtG/gtT		1		1	BMPR2	HGNC	HGNC:1078	protein_coding	YES	CCDS33361.1	ENSP00000363708	Q13873		UPI0000126A3B	NM_001204.6			12/13																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	202556092	202556092	G	T	1	0	0	0	0	0	0	0	1	1626	1335	47	2		2	BMPR2	2	202556092	Silent	SNP	G	C3L-00144_TP	1886460	202556092	39637437	313	4592											
KLF7	0	.	GRCh38	chr2	207124070	207124070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggttttgaccagatggCggctgagctcaggggacgat	8	9	17	7	2	1	4	1	3	0	1	1	6	1	5	1	5	1	3	1	5	0	2	rs747043061		C3L-00144_TP	C3L-00144_NB	C	C																c.437G>T	p.Arg146Leu	p.R146L	ENST00000309446	2/4	389	236	153	307	307	0	strelka-varscan-mutect	KLF7,missense_variant,p.Arg146Leu,ENST00000309446,NM_003709.3;KLF7,missense_variant,p.Arg118Leu,ENST00000412414,NM_001270944.1;KLF7,missense_variant,p.Arg113Leu,ENST00000421199,NM_001270943.1;KLF7,missense_variant,p.Arg146Leu,ENST00000423015,NM_001270942.1;KLF7,missense_variant,p.Arg118Leu,ENST00000435602,;KLF7,intron_variant,,ENST00000458272,;KLF7,downstream_gene_variant,,ENST00000426163,;KLF7,downstream_gene_variant,,ENST00000457962,;KLF7-IT1,upstream_gene_variant,,ENST00000428777,;KLF7,intron_variant,,ENST00000467833,;KLF7,downstream_gene_variant,,ENST00000451244,;	A	ENST00000309446	Transcript	missense_variant	814/8362	437/909	146/302	R/L	cGc/cTc	rs747043061	1		-1	KLF7	HGNC	HGNC:6350	protein_coding	YES	CCDS2373.1	ENSP00000309570	O75840	A0A024R3X8	UPI0000042958	NM_003709.3	deleterious(0.03)		2/4																			MODERATE	1	SNV	1			1										PASS		rs747043061	.												A	3	1	12	207124070	207124070	C	A	1	0	0	0	0	1	0	0	0	8216	768	27	1		1	KLF7	2	207124070	Missense_Mutation	SNP	C	C3L-00144_TP	4567978	207124070	35069459	314	4593											
MAP2	0	.	GRCh38	chr2	209695552	209695552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	accaggaggctgtagacaagGaggagtcctatgaatctagt	13	8	13	7	0	1	2	0	1	1	1	2	5	2	5	2	4	0	2	2	4	5	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3382G>C	p.Glu1128Gln	p.E1128Q	ENST00000360351	7/15	83	41	42	74	74	0	strelka-varscan-mutect	MAP2,missense_variant,p.Glu1128Gln,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Glu1124Gln,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,NM_031845.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;	C	ENST00000360351	Transcript	missense_variant	3888/9711	3382/5484	1128/1827	E/Q	Gag/Cag		1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3	deleterious_low_confidence(0)		7/15		Low_complexity_(Seg):seg,hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15,Pfam_domain:PF08377																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	12	209695552	209695552	G	C	1	0	0	0	0	1	0	0	0	9157	1175	41	4		4	MAP2	2	209695552	Missense_Mutation	SNP	G	C3L-00144_TP	2571482	209695552	32497977	315	4594											
MAP2	0	.	GRCh38	chr2	209697040	209697040	+	Frame_Shift_Del	DEL	G	G	-																															tcatctctcctgtgttaagcGgaaaaccacaggtgactgtt																								rs149033530		C3L-00144_TP	C3L-00144_NB	G	G																c.4512delG	p.Thr1506ProfsTer26	p.T1506Pfs*26	ENST00000360351	9/15	101	87	14	92	92	0	sindel-pindel	MAP2,frameshift_variant,p.Thr1506ProfsTer26,ENST00000360351,NM_002374.3;MAP2,frameshift_variant,p.Thr1502ProfsTer26,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,NM_031845.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000475600,;MAP2,intron_variant,,ENST00000471619,;MAP2,downstream_gene_variant,,ENST00000482864,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;	-	ENST00000360351	Transcript	frameshift_variant	5017/9711	4511/5484	1504/1827	R/X	cGg/cg	rs149033530	1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3			9/15		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15,Pfam_domain:PF08377																	HIGH	1	deletion	5	1		1										PASS		.	.												-	7	5	12	209697040	209697040	G	-	1	0	1	0	1	0	0	0	0	9157	1116	39	0		0	MAP2	2	209697040	Frame_Shift_Del	DEL	G	C3L-00144_TP	1488	209697040	32496489	316	4595											
UNC80	0	.	GRCh38	chr2	209918541	209918541	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcaactaacagattccgcctCccagtatcaatttcaccctt	11	12	3	15	1	3	1	3	0	0	1	5	1	5	1	4	0	2	1	4	0	4	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.5023C>G	p.Pro1675Ala	p.P1675A	ENST00000439458	32/64	112	67	45	80	80	0	strelka-varscan-mutect	UNC80,missense_variant,p.Pro1675Ala,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Pro1670Ala,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	G	ENST00000439458	Transcript	missense_variant	5103/13562	5023/9777	1675/3258	P/A	Ccc/Gcc		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1	deleterious(0.01)		32/64		hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	12	209918541	209918541	C	G	1	0	0	0	0	1	0	0	0	17521	855	30	4		4	UNC80	2	209918541	Missense_Mutation	SNP	C	C3L-00144_TP	221501	209918541	32274988	317	4596											
UNC80	0	.	GRCh38	chr2	209926987	209926987	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgggaagatggagtagcagGtacagttttgaacagtcaga	13	8	15	5	1	1	3	1	1	0	2	1	5	1	5	0	3	3	4	0	3	4	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.5608+1G>T		p.X1870_splice	ENST00000439458		111	84	27	111	111	0	strelka-varscan-mutect	UNC80,splice_donor_variant,,ENST00000439458,NM_032504.1;UNC80,splice_donor_variant,,ENST00000272845,NM_182587.3;UNC80,splice_donor_variant,,ENST00000489023,;	T	ENST00000439458	Transcript	splice_donor_variant	-/13562	5608/9777	1870/3258				1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1				35/63																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	12	209926987	209926987	G	T	1	0	0	0	0	0	0	1	0	17521	1275	44	2		2	UNC80	2	209926987	Splice_Site	SNP	G	C3L-00144_TP	8446	209926987	32266542	318	4597											
UNC80	0	.	GRCh38	chr2	209978699	209978699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcggactgatgaggaaGatgaggaaagtaggtcattc	13	9	15	4	1	1	5	1	4	0	1	3	8	1	8	0	4	0	1	0	4	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.8911G>T	p.Asp2971Tyr	p.D2971Y	ENST00000439458	58/64	81	67	14	81	81	0	strelka-varscan-mutect	UNC80,missense_variant,p.Asp2971Tyr,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Asp2966Tyr,ENST00000272845,NM_182587.3;UNC80,missense_variant,p.Asp497Tyr,ENST00000333907,;UNC80,non_coding_transcript_exon_variant,,ENST00000477924,;	T	ENST00000439458	Transcript	missense_variant	8991/13562	8911/9777	2971/3258	D/Y	Gat/Tat		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1	deleterious_low_confidence(0)		58/64		hmmpanther:PTHR31781:SF1,hmmpanther:PTHR31781																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	209978699	209978699	G	T	1	0	0	0	0	1	0	0	0	17521	942	33	2		2	UNC80	2	209978699	Missense_Mutation	SNP	G	C3L-00144_TP	51712	209978699	32214830	319	4598											
KANSL1L	0	.	GRCh38	chr2	210153571	210153571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttgcatcggaatccaaacCctcttcaacatgagacaaca	15	8	6	12	1	2	1	1	1	1	1	4	3	3	2	2	1	4	2	2	1	4	2	rs762421124		C3L-00144_TP	C3L-00144_NB	C	C																c.1012G>T	p.Gly338Cys	p.G338C	ENST00000281772	2/15	300	258	42	255	252	3	strelka-varscan-mutect	KANSL1L,missense_variant,p.Gly338Cys,ENST00000281772,NM_152519.2;KANSL1L,missense_variant,p.Gly338Cys,ENST00000418791,NM_001307976.1;KANSL1L,missense_variant,p.Gly338Cys,ENST00000452086,;KANSL1L,missense_variant,p.Gly338Cys,ENST00000457374,;KANSL1L,missense_variant,p.Gly33Cys,ENST00000428655,;KANSL1L,missense_variant,p.Gly12Cys,ENST00000438563,;KANSL1L,missense_variant,p.Gly57Cys,ENST00000415553,;KANSL1L,downstream_gene_variant,,ENST00000429908,;KANSL1L,non_coding_transcript_exon_variant,,ENST00000453904,;	A	ENST00000281772	Transcript	missense_variant	1276/4754	1012/2964	338/987	G/C	Ggt/Tgt	rs762421124,COSM3668925	1		-1	KANSL1L	HGNC	HGNC:26310	protein_coding	YES	CCDS33370.1	ENSP00000281772	A0AUZ9		UPI00002094A9	NM_152519.2	deleterious(0.01)		2/15		hmmpanther:PTHR22443:SF16,hmmpanther:PTHR22443											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs762421124	.												A	3	1	12	210153571	210153571	C	A	1	0	0	0	0	1	0	0	0	7890	623	22	2		2	KANSL1L	2	210153571	Missense_Mutation	SNP	C	C3L-00144_TP	174872	210153571	32039958	320	4599											
ABCA12	0	.	GRCh38	chr2	214986677	214986677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcagggcaaccccgactGtgagatctttaggttcaggc	9	9	12	11	1	2	1	1	1	1	1	2	3	2	1	2	3	2	3	2	3	2	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.4028C>T	p.Thr1343Ile	p.T1343I	ENST00000272895	28/53	413	363	50	367	367	0	strelka-varscan-mutect	ABCA12,missense_variant,p.Thr1343Ile,ENST00000272895,NM_173076.2;ABCA12,missense_variant,p.Thr1025Ile,ENST00000389661,NM_015657.3;	A	ENST00000272895	Transcript	missense_variant	4248/9100	4028/7788	1343/2595	T/I	aCa/aTa		1		-1	ABCA12	HGNC	HGNC:14637	protein_coding	YES	CCDS33372.1	ENSP00000272895	Q86UK0		UPI000019AB7A	NM_173076.2	tolerated(0.05)		28/53		Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF29,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	214986677	214986677	G	A	1	0	0	0	0	1	0	0	0	34	1377	48	3		3	ABCA12	2	214986677	Missense_Mutation	SNP	G	C3L-00144_TP	4833106	214986677	27206852	321	4600											
XRCC5	0	.	GRCh38	chr2	216119115	216119115	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgattcagcaaaagtcagctGgatattataattcatagctt	14	13	7	7	1	3	0	3	0	0	0	3	2	3	1	0	1	3	3	0	1	6	7	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.441G>C	p.=	p.L147L	ENST00000392133	7/23	281	244	37	179	179	0	strelka-varscan-mutect	XRCC5,synonymous_variant,p.=,ENST00000392133,;XRCC5,synonymous_variant,p.=,ENST00000392132,NM_021141.3;XRCC5,downstream_gene_variant,,ENST00000417391,;XRCC5,non_coding_transcript_exon_variant,,ENST00000429133,;XRCC5,3_prime_UTR_variant,,ENST00000451695,;XRCC5,non_coding_transcript_exon_variant,,ENST00000460284,;XRCC5,downstream_gene_variant,,ENST00000476360,;	C	ENST00000392133	Transcript	synonymous_variant	902/3761	441/2199	147/732	L	ctG/ctC		1		1	XRCC5	HGNC	HGNC:12833	protein_coding	YES	CCDS2402.1	ENSP00000375978	P13010		UPI0000034133				7/23		hmmpanther:PTHR12604:SF4,hmmpanther:PTHR12604,Pfam_domain:PF03731,PIRSF_domain:PIRSF016570,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	12	216119115	216119115	G	C	1	0	0	0	0	0	0	0	1	18015	1335	47	4		4	XRCC5	2	216119115	Silent	SNP	G	C3L-00144_TP	1132438	216119115	26074414	322	4601											
MARCH4	0	.	GRCh38	chr2	216370008	216370008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagcctgcccacccccCggcgcccagagccggaaggg	6	2	12	21	3	0	1	0	0	0	1	1	2	1	2	9	3	3	0	9	3	1	0	rs756413699		C3L-00144_TP	C3L-00144_NB	C	C																c.253G>T	p.Gly85Trp	p.G85W	ENST00000273067	1/4	92	55	37	67	67	0	strelka-varscan-mutect	MARCH4,missense_variant,p.Gly85Trp,ENST00000273067,NM_020814.2;	A	ENST00000273067	Transcript	missense_variant	2020/4447	253/1233	85/410	G/W	Ggg/Tgg	rs756413699	1		-1	MARCH4	HGNC	HGNC:29269	protein_coding	YES	CCDS33376.1	ENSP00000273067	Q9P2E8		UPI00001C1DB9	NM_020814.2	deleterious_low_confidence(0)		1/4		hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF51,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs756413699	.												A	3	1	12	216370008	216370008	C	A	1	0	0	0	0	1	0	0	0	9228	652	23	1		1	MARCH4	2	216370008	Missense_Mutation	SNP	C	C3L-00144_TP	250893	216370008	25823521	323	4602											
PRKAG3	0	.	GRCh38	chr2	218827286	218827286	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcaggcgtttgtgtgtgagGatgtggagtacgttgcctga	7	12	17	5	2	0	2	0	2	0	0	0	4	0	4	1	3	3	4	1	3	1	3	rs748055391		C3L-00144_TP	C3L-00144_NB	G	G																c.963C>G	p.Ile321Met	p.I321M	ENST00000439262	9/14	564	336	228	426	426	0	strelka-varscan-mutect	PRKAG3,missense_variant,p.Ile321Met,ENST00000439262,NM_017431.2;PRKAG3,missense_variant,p.Ile321Met,ENST00000529249,;PRKAG3,downstream_gene_variant,,ENST00000430489,;MIR9500,downstream_gene_variant,,ENST00000635985,;PRKAG3,missense_variant,p.Ile321Met,ENST00000233944,;PRKAG3,missense_variant,p.Ser306Cys,ENST00000470307,;PRKAG3,non_coding_transcript_exon_variant,,ENST00000490971,;	C	ENST00000439262	Transcript	missense_variant	984/2301	963/1470	321/489	I/M	atC/atG	rs748055391	1		-1	PRKAG3	HGNC	HGNC:9387	protein_coding	YES	CCDS2424.1	ENSP00000397133	Q9UGI9	A0A024R426	UPI0000043D98	NM_017431.2	deleterious(0.03)		9/14		PROSITE_profiles:PS51371,hmmpanther:PTHR13780:SF31,hmmpanther:PTHR13780,Gene3D:3.10.580.10,Pfam_domain:PF00571,SMART_domains:SM00116,Superfamily_domains:SSF54631																	MODERATE	1	SNV	1			1										PASS		rs748055391	.												C	3	2	12	218827286	218827286	G	C	1	0	0	0	0	1	0	0	0	12635	1164	41	4		4	PRKAG3	2	218827286	Missense_Mutation	SNP	G	C3L-00144_TP	2457278	218827286	23366243	324	4603											
PTPRN	0	.	GRCh38	chr2	219300027	219300027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattcctctgctgctgggCgggctgagggctgtcctgcc	3	11	14	13	1	1	1	0	1	1	0	3	1	3	1	3	3	3	4	3	3	1	2	rs139530025		C3L-00144_TP	C3L-00144_NB	C	C																c.1394G>T	p.Arg465Leu	p.R465L	ENST00000295718	9/23	294	225	69	216	216	0	strelka-varscan-mutect	PTPRN,missense_variant,p.Arg465Leu,ENST00000295718,NM_002846.3;PTPRN,missense_variant,p.Arg465Leu,ENST00000409251,NM_001199763.1;PTPRN,missense_variant,p.Arg375Leu,ENST00000423636,NM_001199764.1;PTPRN,upstream_gene_variant,,ENST00000443981,;PTPRN,downstream_gene_variant,,ENST00000446182,;PTPRN,downstream_gene_variant,,ENST00000440552,;PTPRN,downstream_gene_variant,,ENST00000412847,;PTPRN,downstream_gene_variant,,ENST00000442029,;PTPRN,downstream_gene_variant,,ENST00000451506,;AC114803.3,intron_variant,,ENST00000417355,;PTPRN,upstream_gene_variant,,ENST00000497977,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,downstream_gene_variant,,ENST00000606213,;PTPRN,downstream_gene_variant,,ENST00000476930,;PTPRN,upstream_gene_variant,,ENST00000489650,;PTPRN,upstream_gene_variant,,ENST00000486480,;	A	ENST00000295718	Transcript	missense_variant	1635/3784	1394/2940	465/979	R/L	cGc/cTc	rs139530025	1		-1	PTPRN	HGNC	HGNC:9676	protein_coding	YES	CCDS2440.1	ENSP00000295718	Q16849		UPI0000132999	NM_002846.3	deleterious(0.02)		9/23		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2																	MODERATE	1	SNV	1			1										PASS		rs139530025	.												A	3	1	12	219300027	219300027	C	A	1	0	0	0	0	1	0	0	0	12961	768	27	1		1	PTPRN	2	219300027	Missense_Mutation	SNP	C	C3L-00144_TP	472741	219300027	22893502	325	4604											
SPEG	0	.	GRCh38	chr2	219477963	219477963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctccggcctggagtttgcgGccaagttcatccccagccag	6	8	12	15	2	1	0	1	0	0	0	3	1	3	1	6	3	2	3	6	3	1	2			C3L-00144_TP	C3L-00144_NB	G	G																c.4885G>T	p.Ala1629Ser	p.A1629S	ENST00000312358	22/41	368	272	96	253	253	0	strelka-varscan-mutect	SPEG,missense_variant,p.Ala1629Ser,ENST00000312358,NM_005876.4;AC053503.11,downstream_gene_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,downstream_gene_variant,,ENST00000485069,;	T	ENST00000312358	Transcript	missense_variant	5017/10782	4885/9804	1629/3267	A/S	Gcc/Tcc	COSM1752371	1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	deleterious(0)		22/41		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,SMART_domains:SM00220,Superfamily_domains:SSF56112											1						MODERATE		SNV	5		1	1										PASS		.	.												T	3	4	12	219477963	219477963	G	T	1	0	0	0	0	1	0	0	0	15387	1203	42	2		2	SPEG	2	219477963	Missense_Mutation	SNP	G	C3L-00144_TP	177936	219477963	22715566	326	4605											
ASIC4	0	.	GRCh38	chr2	219514903	219514903	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggccgggcctgtggccCaggcccccacggactgcgca	5	4	15	17	3	0	0	0	0	0	0	0	1	0	1	5	5	1	1	5	5	0	0	rs752696438		C3L-00144_TP	C3L-00144_NB	C	C																c.560C>A	p.Pro187Gln	p.P187Q	ENST00000347842	1/9	260	157	103	183	183	0	strelka-varscan-mutect	ASIC4,missense_variant,p.Pro187Gln,ENST00000358078,;ASIC4,missense_variant,p.Pro187Gln,ENST00000347842,NM_182847.2;AC053503.11,intron_variant,,ENST00000429882,;ASIC4,upstream_gene_variant,,ENST00000473709,;ASIC4,non_coding_transcript_exon_variant,,ENST00000461395,;ASIC4,upstream_gene_variant,,ENST00000474489,;	A	ENST00000347842	Transcript	missense_variant	574/2684	560/1944	187/647	P/Q	cCa/cAa	rs752696438	1		1	ASIC4	HGNC	HGNC:21263	protein_coding	YES	CCDS2442.1	ENSP00000326627	Q96FT7		UPI0000456EFC	NM_182847.2	tolerated(0.17)		1/9		Pfam_domain:PF00858,hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF13																	MODERATE	1	SNV	1			1										PASS		rs752696438	.												A	3	1	12	219514903	219514903	C	A	1	0	0	0	0	1	0	0	0	1188	594	21	2		2	ASIC4	2	219514903	Missense_Mutation	SNP	C	C3L-00144_TP	36940	219514903	22678626	327	4606											
PAX3	0	.	GRCh38	chr2	222297030	222297030	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatggagccagtctcctggTacctgcacaggatcttggag	8	10	13	10	0	2	0	0	0	2	0	3	3	2	3	3	4	3	3	3	4	2	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.269A>T	p.Tyr90Phe	p.Y90F	ENST00000392069	2/10	514	288	226	432	432	0	strelka-varscan-mutect	PAX3,missense_variant,p.Tyr90Phe,ENST00000350526,NM_181457.3;PAX3,missense_variant,p.Tyr90Phe,ENST00000392069,NM_181459.3;PAX3,missense_variant,p.Tyr90Phe,ENST00000344493,NM_181461.3;PAX3,missense_variant,p.Tyr90Phe,ENST00000392070,NM_181458.3;PAX3,missense_variant,p.Tyr90Phe,ENST00000336840,NM_181460.3;PAX3,missense_variant,p.Tyr90Phe,ENST00000409551,NM_001127366.2;PAX3,missense_variant,p.Tyr90Phe,ENST00000409828,NM_000438.5;PAX3,missense_variant,p.Tyr90Phe,ENST00000258387,NM_013942.4;CCDC140,upstream_gene_variant,,ENST00000295226,NM_153038.1;	A	ENST00000392069	Transcript	missense_variant	635/3170	269/1518	90/505	Y/F	tAc/tTc		1		-1	PAX3	HGNC	HGNC:8617	protein_coding	YES	CCDS2448.1	ENSP00000375921	P23760		UPI00001A8BF0	NM_181459.3	tolerated(0.05)		2/10		Gene3D:1.10.10.10,Pfam_domain:PF00292,Prints_domain:PR00027,PROSITE_profiles:PS51057,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF307,SMART_domains:SM00351,Superfamily_domains:SSF46689																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	12	222297030	222297030	T	A	1	0	0	0	0	1	0	0	0	11565	1638	57	4		4	PAX3	2	222297030	Missense_Mutation	SNP	T	C3L-00144_TP	2782127	222297030	19896499	328	4607											
COL4A3	0	.	GRCh38	chr2	227253300	227253300	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttttcttacagggtcAcatgggtgaaagagtgatag	10	14	13	4	0	2	3	1	2	1	1	2	3	2	3	0	2	1	1	0	2	3	5	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.650A>T	p.His217Leu	p.H217L	ENST00000396578	12/52	365	209	156	220	220	0	strelka-varscan-mutect	COL4A3,missense_variant,p.His217Leu,ENST00000396578,NM_000091.4;AC097662.2,intron_variant,,ENST00000439598,;AC097662.2,intron_variant,,ENST00000396588,;AC097662.2,intron_variant,,ENST00000437673,;AC097662.2,intron_variant,,ENST00000606119,;	T	ENST00000396578	Transcript	missense_variant	812/8097	650/5013	217/1670	H/L	cAc/cTc		1		1	COL4A3	HGNC	HGNC:2204	protein_coding	YES	CCDS42829.1	ENSP00000379823	Q01955		UPI000013E9F3	NM_000091.4	tolerated(0.72)		12/52		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF598,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	227253300	227253300	A	T	1	0	0	0	0	1	0	0	0	3480	173	6	4		4	COL4A3	2	227253300	Missense_Mutation	SNP	A	C3L-00144_TP	4956270	227253300	14940229	329	4608											
SPATA3	0	.	GRCh38	chr2	230996365	230996365	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcctagtcctgaatcCacaccacagcagcctagccc	11	5	7	18	0	0	1	0	1	0	0	2	1	2	1	6	0	5	2	6	0	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.132C>A	p.=	p.S44S	ENST00000452881	1/9	348	320	28	245	245	0	varscan-mutect	SPATA3,synonymous_variant,p.=,ENST00000452881,;SPATA3,synonymous_variant,p.=,ENST00000424440,;SPATA3,synonymous_variant,p.=,ENST00000433428,NM_139073.3;SPATA3,synonymous_variant,p.=,ENST00000612823,;SPATA3,synonymous_variant,p.=,ENST00000455816,;SPATA3,synonymous_variant,p.=,ENST00000440792,;SPATA3,upstream_gene_variant,,ENST00000423134,;SPATA3-AS1,upstream_gene_variant,,ENST00000414876,;SPATA3-AS1,upstream_gene_variant,,ENST00000446741,;SPATA3-AS1,upstream_gene_variant,,ENST00000434094,;SPATA3-AS1,upstream_gene_variant,,ENST00000426904,;SPATA3-AS1,upstream_gene_variant,,ENST00000457803,;SPATA3-AS1,upstream_gene_variant,,ENST00000418330,;SPATA3-AS1,upstream_gene_variant,,ENST00000441063,;SPATA3,upstream_gene_variant,,ENST00000409956,;SPATA3,intron_variant,,ENST00000454918,;	A	ENST00000452881	Transcript	synonymous_variant	240/1618	132/579	44/192	S	tcC/tcA		1		1	SPATA3	HGNC	HGNC:17884	protein_coding	YES	CCDS2481.1	ENSP00000388895	Q8NHX4		UPI000006E910				1/9		Low_complexity_(Seg):seg,hmmpanther:PTHR22234,Pfam_domain:PF15662																	LOW		SNV	2			1										PASS		.	.												A	2	1	12	230996365	230996365	C	A	1	0	0	0	0	0	0	0	1	15342	581	21	2		2	SPATA3	2	230996365	Silent	SNP	C	C3L-00144_TP	3743065	230996365	11197164	330	4609											
SPATA3	0	.	GRCh38	chr2	230996392	230996392	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcctagccctgaatcCacaccacagcattccagcct	11	6	6	18	0	0	1	0	1	0	0	2	1	2	1	6	0	5	2	6	0	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.159C>A	p.=	p.S53S	ENST00000452881	1/9	489	361	128	369	369	0	strelka-varscan-mutect	SPATA3,synonymous_variant,p.=,ENST00000452881,;SPATA3,synonymous_variant,p.=,ENST00000424440,;SPATA3,synonymous_variant,p.=,ENST00000433428,NM_139073.3;SPATA3,synonymous_variant,p.=,ENST00000612823,;SPATA3,synonymous_variant,p.=,ENST00000455816,;SPATA3,synonymous_variant,p.=,ENST00000423134,;SPATA3,synonymous_variant,p.=,ENST00000440792,;SPATA3-AS1,upstream_gene_variant,,ENST00000414876,;SPATA3-AS1,upstream_gene_variant,,ENST00000446741,;SPATA3-AS1,upstream_gene_variant,,ENST00000434094,;SPATA3-AS1,upstream_gene_variant,,ENST00000426904,;SPATA3-AS1,upstream_gene_variant,,ENST00000457803,;SPATA3-AS1,upstream_gene_variant,,ENST00000418330,;SPATA3-AS1,upstream_gene_variant,,ENST00000441063,;SPATA3,upstream_gene_variant,,ENST00000409956,;SPATA3,intron_variant,,ENST00000454918,;	A	ENST00000452881	Transcript	synonymous_variant	267/1618	159/579	53/192	S	tcC/tcA		1		1	SPATA3	HGNC	HGNC:17884	protein_coding	YES	CCDS2481.1	ENSP00000388895	Q8NHX4		UPI000006E910				1/9		Low_complexity_(Seg):seg,hmmpanther:PTHR22234,Pfam_domain:PF15662																	LOW		SNV	2			1										PASS		.	.												A	2	1	12	230996392	230996392	C	A	1	0	0	0	0	0	0	0	1	15342	581	21	2		2	SPATA3	2	230996392	Silent	SNP	C	C3L-00144_TP	27	230996392	11197137	331	4610											
UGT1A1	0	.	GRCh38	chr2	233772448	233772448	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgattggtttcctcttggcCgtcgtgctgacagtggcctt	3	15	13	10	2	1	2	0	2	1	0	3	2	2	2	3	3	1	2	3	3	0	4	rs199539868		C3L-00144_TP	C3L-00144_NB	C	C																c.1488C>A	p.=	p.A496A	ENST00000305139	5/5	521	396	125	365	364	1	strelka-varscan-mutect	UGT1A6,synonymous_variant,p.=,ENST00000305139,NM_001072.3;UGT1A9,synonymous_variant,p.=,ENST00000354728,NM_021027.2;UGT1A10,synonymous_variant,p.=,ENST00000344644,NM_019075.2;UGT1A8,synonymous_variant,p.=,ENST00000373450,NM_019076.4;UGT1A4,synonymous_variant,p.=,ENST00000373409,NM_007120.2;UGT1A1,synonymous_variant,p.=,ENST00000305208,NM_000463.2;UGT1A3,synonymous_variant,p.=,ENST00000482026,NM_019093.2;UGT1A5,synonymous_variant,p.=,ENST00000373414,NM_019078.1;UGT1A7,synonymous_variant,p.=,ENST00000373426,NM_019077.2;UGT1A6,synonymous_variant,p.=,ENST00000373424,NM_205862.1;MROH2A,upstream_gene_variant,,ENST00000610772,NM_001287395.1;UGT1A1,downstream_gene_variant,,ENST00000360418,;UGT1A10,downstream_gene_variant,,ENST00000373445,;UGT1A6,downstream_gene_variant,,ENST00000406651,;MROH2A,upstream_gene_variant,,ENST00000430892,;MROH2A,upstream_gene_variant,,ENST00000428446,;MROH2A,upstream_gene_variant,,ENST00000454283,;UGT1A4,3_prime_UTR_variant,,ENST00000450233,;UGT1A6,downstream_gene_variant,,ENST00000446481,;	A	ENST00000305139	Transcript	synonymous_variant	1627/2479	1488/1599	496/532	A	gcC/gcA	rs199539868	1		1	UGT1A6	HGNC	HGNC:12538	protein_coding	YES	CCDS2507.1	ENSP00000303174	P19224	Q5DSZ8	UPI000007021F	NM_001072.3			5/5		Pfam_domain:PF00201,Transmembrane_helices:TMhelix																	LOW		SNV	1			1										PASS		rs199539868	.												A	2	1	12	233772448	233772448	C	A	1	0	0	0	0	0	0	0	1	17469	639	23	1		1	UGT1A1	2	233772448	Silent	SNP	C	C3L-00144_TP	2776056	233772448	8421081	332	4611											
TRPM8	0	.	GRCh38	chr2	233950011	233950011	+	Silent	SNP	C	C	T																															gtggaaggctcgggccagatCgctgatgtgatcgctagcct																								rs530123743		C3L-00144_TP	C3L-00144_NB	C	C																c.1005C>T	p.=	p.I335I	ENST00000324695	9/26	431	333	98	333	333	0	strelka-varscan-mutect	TRPM8,synonymous_variant,p.=,ENST00000324695,NM_024080.4;TRPM8,synonymous_variant,p.=,ENST00000433712,;AC005538.5,intron_variant,,ENST00000455991,;TRPM8,3_prime_UTR_variant,,ENST00000444298,;TRPM8,upstream_gene_variant,,ENST00000487033,;	T	ENST00000324695	Transcript	synonymous_variant	1045/5621	1005/3315	335/1104	I	atC/atT	rs530123743,COSM176343	1		1	TRPM8	HGNC	HGNC:17961	protein_coding	YES	CCDS33407.1	ENSP00000323926	Q7Z2W7	W8DTH1	UPI0000456F32	NM_024080.4			9/26		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF9											0,1						LOW	1	SNV	1		0,1	1										PASS		rs530123743	.												T	2	4	12	233950011	233950011	C	T	1	0	0	0	0	0	0	0	1	17098	874	31	1		1	TRPM8	2	233950011	Silent	SNP	C	C3L-00144_TP	177563	233950011	8243518	333	4612	104	2									
TRPM8	0	.	GRCh38	chr2	233950012	233950012	+	Missense_Mutation	SNP	G	G	C																															tggaaggctcgggccagatcGctgatgtgatcgctagcctg																								rs200708894		C3L-00144_TP	C3L-00144_NB	G	G																c.1006G>C	p.Ala336Pro	p.A336P	ENST00000324695	9/26	435	337	98	340	340	0	strelka-varscan-mutect	TRPM8,missense_variant,p.Ala336Pro,ENST00000324695,NM_024080.4;TRPM8,missense_variant,p.Ala95Pro,ENST00000433712,;AC005538.5,intron_variant,,ENST00000455991,;TRPM8,3_prime_UTR_variant,,ENST00000444298,;TRPM8,upstream_gene_variant,,ENST00000487033,;	C	ENST00000324695	Transcript	missense_variant	1046/5621	1006/3315	336/1104	A/P	Gct/Cct	rs200708894	1		1	TRPM8	HGNC	HGNC:17961	protein_coding	YES	CCDS33407.1	ENSP00000323926	Q7Z2W7	W8DTH1	UPI0000456F32	NM_024080.4	deleterious(0)		9/26		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF9																	MODERATE	1	SNV	1			1										PASS		rs200708894	.												C	3	2	12	233950012	233950012	G	C	1	0	0	0	0	1	0	0	0	17098	1087	38	4		4	TRPM8	2	233950012	Missense_Mutation	SNP	G	C3L-00144_TP	1	233950012	8243517	334	4613	104	2									
ASB18	0	.	GRCh38	chr2	236241350	236241350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattgatctcaaacaccacGttggcatcctggaagaactg	12	11	8	10	1	1	2	1	1	1	1	3	3	2	3	2	2	2	2	2	2	4	3	rs371669046		C3L-00144_TP	C3L-00144_NB	G	G																c.258C>A	p.Asn86Lys	p.N86K	ENST00000409749	2/6	442	273	169	283	283	0	strelka-varscan-mutect	ASB18,missense_variant,p.Asn86Lys,ENST00000409749,NM_212556.2;ASB18,intron_variant,,ENST00000430053,;AC079135.1,intron_variant,,ENST00000415226,;	T	ENST00000409749	Transcript	missense_variant	258/1401	258/1401	86/466	N/K	aaC/aaA	rs371669046	1		-1	ASB18	HGNC	HGNC:19770	protein_coding	YES	CCDS46548.1	ENSP00000386532	Q6ZVZ8		UPI00015D60A6	NM_212556.2	deleterious(0)		2/6		Superfamily_domains:SSF48403																	MODERATE	1	SNV	2			1										PASS		rs371669046	.												T	3	4	12	236241350	236241350	G	T	1	0	0	0	0	1	0	0	0	1164	1136	40	1		1	ASB18	2	236241350	Missense_Mutation	SNP	G	C3L-00144_TP	2291338	236241350	5952179	335	4614											
CHL1	0	.	GRCh38	chr3	343016	343016	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactcaagttcatccacaGaaattggttccaagggtaag	14	10	9	8	0	2	2	2	1	0	1	4	2	4	2	2	2	0	3	2	2	4	4	rs761520990		C3L-00144_TP	C3L-00144_NB	G	G																c.712G>T	p.Glu238Ter	p.E238*	ENST00000256509	8/28	135	128	7	106	106	0	strelka-mutect	CHL1,stop_gained,p.Glu238Ter,ENST00000256509,NM_006614.3;CHL1,stop_gained,p.Glu238Ter,ENST00000620033,NM_001253388.1;CHL1,intron_variant,,ENST00000397491,NM_001253387.1;CHL1,downstream_gene_variant,,ENST00000435603,;CHL1,intron_variant,,ENST00000453040,;	T	ENST00000256509	Transcript	stop_gained	1354/8023	712/3675	238/1224	E/*	Gaa/Taa	rs761520990,COSM3593213	1		1	CHL1	HGNC	HGNC:1939	protein_coding	YES	CCDS2556.1	ENSP00000256509	O00533		UPI000013CF0F	NM_006614.3			8/28													0,1						HIGH	1	SNV	1		0,1	1										PASS		rs761520990	.												T	4	4	12	343016	343016	G	T	1	0	0	0	0	0	1	0	0	3108	943	33	2		2	CHL1	3	343016	Nonsense_Mutation	SNP	G	C3L-00144_TP		343016	197952543	336	4615											
CHL1	0	.	GRCh38	chr3	361704	361704	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttattttcaaatagatgtcCgtccattgatacaaaccaaa	15	13	5	8	1	1	2	1	1	0	1	3	2	3	2	3	0	2	1	3	0	6	6	rs771129031		C3L-00144_TP	C3L-00144_NB	C	C																c.1312C>G	p.Arg438Gly	p.R438G	ENST00000256509	13/28	154	111	43	132	132	0	strelka-varscan-mutect	CHL1,missense_variant,p.Arg438Gly,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Arg438Gly,ENST00000620033,NM_001253388.1;CHL1,missense_variant,p.Arg422Gly,ENST00000397491,NM_001253387.1;CHL1-AS1,downstream_gene_variant,,ENST00000417612,;CHL1-AS1,downstream_gene_variant,,ENST00000608098,;CHL1,non_coding_transcript_exon_variant,,ENST00000471332,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	G	ENST00000256509	Transcript	missense_variant	1954/8023	1312/3675	438/1224	R/G	Cgt/Ggt	rs771129031	1		1	CHL1	HGNC	HGNC:1939	protein_coding	YES	CCDS2556.1	ENSP00000256509	O00533		UPI000013CF0F	NM_006614.3	tolerated(0.19)		13/28		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF653																	MODERATE	1	SNV	1			1										PASS		rs771129031	.												G	3	3	12	361704	361704	C	G	1	0	0	0	0	1	0	0	0	3108	666	23	4		4	CHL1	3	361704	Missense_Mutation	SNP	C	C3L-00144_TP	18688	361704	197933855	337	4616											
CNTN4	0	.	GRCh38	chr3	3053833	3053833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacagatggaacagacaaagCagcacatctgtcattgaaac	17	7	8	9	0	2	3	1	1	1	2	2	4	2	4	0	1	5	2	0	1	4	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2838C>A	p.Ser946Arg	p.S946R	ENST00000397461	23/24	256	235	21	281	279	2	strelka-varscan-mutect	CNTN4,missense_variant,p.Ser946Arg,ENST00000397461,NM_001206955.1;CNTN4,missense_variant,p.Ser946Arg,ENST00000418658,NM_175607.2;CNTN4,missense_variant,p.Ser946Arg,ENST00000427331,;CNTN4,missense_variant,p.Ser618Arg,ENST00000397459,NM_001206956.1,NM_175613.2;CNTN4-AS1,intron_variant,,ENST00000442749,;CNTN4-AS1,intron_variant,,ENST00000629672,;CNTN4,non_coding_transcript_exon_variant,,ENST00000484686,;	A	ENST00000397461	Transcript	missense_variant	3222/5198	2838/3081	946/1026	S/R	agC/agA		1		1	CNTN4	HGNC	HGNC:2174	protein_coding	YES	CCDS43041.1	ENSP00000380602	Q8IWV2	A0A024R2E5	UPI000007446C	NM_001206955.1	tolerated(0.11)		23/24		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF568,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	12	3053833	3053833	C	A	1	0	0	0	0	1	0	0	0	3424	709	25	2		2	CNTN4	3	3053833	Missense_Mutation	SNP	C	C3L-00144_TP	2692129	3053833	195241726	338	4617											
IL5RA	0	.	GRCh38	chr3	3092235	3092235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctacttacccacataaataGgttggctccactcactccag	11	10	6	14	0	1	0	1	0	0	0	3	0	3	0	3	2	2	3	3	2	5	5	rs750574625		C3L-00144_TP	C3L-00144_NB	G	G																c.983C>A	p.Pro328His	p.P328H	ENST00000446632	9/12	112	97	15	86	86	0	strelka-varscan-mutect	IL5RA,missense_variant,p.Pro328His,ENST00000446632,NM_175726.3;IL5RA,missense_variant,p.Pro328His,ENST00000438560,NM_001243099.1;IL5RA,missense_variant,p.Pro328His,ENST00000256452,NM_000564.4;IL5RA,missense_variant,p.Pro328His,ENST00000383846,NM_175728.2;IL5RA,missense_variant,p.Pro328His,ENST00000430514,NM_175724.2;IL5RA,missense_variant,p.Pro328His,ENST00000456302,NM_175727.2;IL5RA,missense_variant,p.Pro328His,ENST00000311981,NM_175725.2;IL5RA,intron_variant,,ENST00000418488,;	T	ENST00000446632	Transcript	missense_variant	1558/2514	983/1263	328/420	P/H	cCt/cAt	rs750574625	1		-1	IL5RA	HGNC	HGNC:6017	protein_coding	YES	CCDS2559.1	ENSP00000412209	Q01344	A0A024R2C8	UPI000013C656	NM_175726.3	deleterious(0.01)		9/12		PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF17,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		rs750574625	.												T	3	4	12	3092235	3092235	G	T	1	0	0	0	0	1	0	0	0	7604	1000	35	2		2	IL5RA	3	3092235	Missense_Mutation	SNP	G	C3L-00144_TP	38402	3092235	195203324	339	4618											
GRM7	0	.	GRCh38	chr3	7298793	7298793	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacccccaactccagggcCgtcgtgatttttgccaacga	9	8	9	15	3	0	1	0	1	0	0	2	3	1	1	5	1	3	0	5	1	2	2	rs761307351		C3L-00144_TP	C3L-00144_NB	C	C																c.846C>A	p.=	p.A282A	ENST00000357716	3/10	326	294	32	285	284	1	strelka-varscan-mutect	GRM7,synonymous_variant,p.=,ENST00000486284,NM_181874.2;GRM7,synonymous_variant,p.=,ENST00000357716,NM_000844.3;GRM7,synonymous_variant,p.=,ENST00000389336,;GRM7,synonymous_variant,p.=,ENST00000402647,;GRM7,synonymous_variant,p.=,ENST00000448328,;GRM7,synonymous_variant,p.=,ENST00000467425,;GRM7,synonymous_variant,p.=,ENST00000440923,;GRM7,synonymous_variant,p.=,ENST00000389335,;GRM7,3_prime_UTR_variant,,ENST00000435689,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;GRM7,non_coding_transcript_exon_variant,,ENST00000461677,;	A	ENST00000357716	Transcript	synonymous_variant	1120/4127	846/2748	282/915	A	gcC/gcA	rs761307351	1		1	GRM7	HGNC	HGNC:4599	protein_coding	YES	CCDS43042.1	ENSP00000350348	Q14831		UPI000004A7E3	NM_000844.3			3/10		hmmpanther:PTHR24060:SF98,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822																	LOW	1	SNV	1			1										PASS		rs761307351	.												A	2	1	12	7298793	7298793	C	A	1	0	0	0	0	0	0	0	1	6684	639	23	1		1	GRM7	3	7298793	Silent	SNP	C	C3L-00144_TP	4206558	7298793	190996766	340	4619											
GRM7	0	.	GRCh38	chr3	7306512	7306512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggcagatccttgcagCagccaaaagagctgaccaag	14	4	10	13	0	0	3	0	1	0	2	1	3	1	3	4	1	4	4	4	1	3	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.893C>A	p.Ala298Glu	p.A298E	ENST00000357716	4/10	299	241	58	244	243	1	strelka-varscan-mutect	GRM7,missense_variant,p.Ala298Glu,ENST00000486284,NM_181874.2;GRM7,missense_variant,p.Ala298Glu,ENST00000357716,NM_000844.3;GRM7,missense_variant,p.Ala298Glu,ENST00000389336,;GRM7,missense_variant,p.Ala53Glu,ENST00000402647,;GRM7,missense_variant,p.Ala90Glu,ENST00000448328,;GRM7,missense_variant,p.Ala298Glu,ENST00000467425,;GRM7,missense_variant,p.Ala298Glu,ENST00000440923,;GRM7,missense_variant,p.Ala298Glu,ENST00000389335,;GRM7,3_prime_UTR_variant,,ENST00000435689,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;GRM7,non_coding_transcript_exon_variant,,ENST00000461677,;	A	ENST00000357716	Transcript	missense_variant	1167/4127	893/2748	298/915	A/E	gCa/gAa		1		1	GRM7	HGNC	HGNC:4599	protein_coding	YES	CCDS43042.1	ENSP00000350348	Q14831		UPI000004A7E3	NM_000844.3	deleterious(0)		4/10		hmmpanther:PTHR24060:SF98,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	7306512	7306512	C	A	1	0	0	0	0	1	0	0	0	6684	710	25	2		2	GRM7	3	7306512	Missense_Mutation	SNP	C	C3L-00144_TP	7719	7306512	190989047	341	4620											
BRPF1	0	.	GRCh38	chr3	9734670	9734670	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaccactcccaagctgcCagaggtggtctatcgggagc	9	6	13	13	1	1	1	0	0	1	1	3	3	2	2	3	3	4	2	3	3	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.530C>G	p.Pro177Arg	p.P177R	ENST00000383829	2/14	271	246	25	253	253	0	strelka-varscan-mutect	BRPF1,missense_variant,p.Pro177Arg,ENST00000383829,NM_001003694.1;BRPF1,missense_variant,p.Pro177Arg,ENST00000424362,NM_001319050.1;BRPF1,missense_variant,p.Pro177Arg,ENST00000457855,NM_004634.2;BRPF1,missense_variant,p.Pro177Arg,ENST00000433861,NM_001319049.1;CPNE9,downstream_gene_variant,,ENST00000383832,NM_153635.2;BRPF1,downstream_gene_variant,,ENST00000420291,;BRPF1,downstream_gene_variant,,ENST00000426583,;	G	ENST00000383829	Transcript	missense_variant	934/4736	530/3663	177/1220	P/R	cCa/cGa		1		1	BRPF1	HGNC	HGNC:14255	protein_coding	YES	CCDS33692.1	ENSP00000373340	P55201		UPI00001A9CA3	NM_001003694.1	deleterious(0)		2/14		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF85,Pfam_domain:PF10513																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	9734670	9734670	C	G	1	0	0	0	0	1	0	0	0	1694	594	21	4		4	BRPF1	3	9734670	Missense_Mutation	SNP	C	C3L-00144_TP	2428158	9734670	188560889	342	4621											
SLC6A1	0	.	GRCh38	chr3	11034624	11034624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggtgtgggctggctgatgGctctgtcttccatggtcctc	3	13	15	10	0	2	1	0	1	2	0	5	1	4	1	2	5	0	3	2	5	0	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1621G>A	p.Ala541Thr	p.A541T	ENST00000287766	15/16	189	173	16	202	202	0	strelka-varscan-mutect	SLC6A1,missense_variant,p.Ala541Thr,ENST00000287766,NM_003042.3;SLC6A1,non_coding_transcript_exon_variant,,ENST00000495636,;	A	ENST00000287766	Transcript	missense_variant	2042/4502	1621/1800	541/599	A/T	Gct/Act		1		1	SLC6A1	HGNC	HGNC:11042	protein_coding	YES	CCDS2603.1	ENSP00000287766	P30531	A0A024R2G0	UPI000013DECF	NM_003042.3	tolerated(0.12)		15/16		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF138,Pfam_domain:PF00209,Superfamily_domains:0053687																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	11034624	11034624	G	A	1	0	0	0	0	1	0	0	0	14956	1203	42	3		3	SLC6A1	3	11034624	Missense_Mutation	SNP	G	C3L-00144_TP	1299954	11034624	187260935	343	4622											
FGD5	0	.	GRCh38	chr3	14820698	14820698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgccagcaaagcccaggGcctttactttataccctcgg	8	10	8	15	1	0	0	0	0	0	0	1	0	0	0	5	2	5	1	5	2	4	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1627G>T	p.Ala543Ser	p.A543S	ENST00000285046	1/20	47	38	9	43	43	0	strelka-varscan-mutect	FGD5,missense_variant,p.Ala302Ser,ENST00000543601,NM_001320276.1;FGD5,missense_variant,p.Ala543Ser,ENST00000285046,NM_152536.3;FGD5,upstream_gene_variant,,ENST00000457774,;	T	ENST00000285046	Transcript	missense_variant	1737/5720	1627/4389	543/1462	A/S	Gcc/Tcc		1		1	FGD5	HGNC	HGNC:19117	protein_coding	YES	CCDS46767.1	ENSP00000285046	Q6ZNL6		UPI00002372AE	NM_152536.3	tolerated(0.63)		1/20		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	14820698	14820698	G	T	1	0	0	0	0	1	0	0	0	5700	1203	42	2		2	FGD5	3	14820698	Missense_Mutation	SNP	G	C3L-00144_TP	3786074	14820698	183474861	344	4623											
KCNH8	0	.	GRCh38	chr3	19513009	19513009	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaacatcaacaagcgactcCcatccattgtggaagatgag	14	7	9	11	1	1	2	1	1	0	1	3	4	3	3	2	1	3	1	2	1	4	1	rs747522897		C3L-00144_TP	C3L-00144_NB	C	C																c.2119C>A	p.Pro707Thr	p.P707T	ENST00000328405	13/16	190	167	23	189	189	0	strelka-varscan-mutect	KCNH8,missense_variant,p.Pro707Thr,ENST00000328405,NM_144633.2;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	A	ENST00000328405	Transcript	missense_variant	2385/5137	2119/3324	707/1107	P/T	Cca/Aca	rs747522897	1		1	KCNH8	HGNC	HGNC:18864	protein_coding	YES	CCDS2632.1	ENSP00000328813	Q96L42		UPI0000167D12	NM_144633.2	deleterious(0.02)		13/16		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380																	MODERATE	1	SNV	1			1										PASS		rs747522897	.												A	3	1	12	19513009	19513009	C	A	1	0	0	0	0	1	0	0	0	7954	623	22	2		2	KCNH8	3	19513009	Missense_Mutation	SNP	C	C3L-00144_TP	4692311	19513009	178782550	345	4624											
KAT2B	0	.	GRCh38	chr3	20101445	20101445	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccaatgatgatatttcTggatacaaagagaactacac	15	11	6	9	0	2	3	0	2	2	1	3	5	2	4	1	1	3	0	1	1	6	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.828T>G	p.=	p.S276S	ENST00000263754	5/18	119	95	24	103	103	0	strelka-mutect	KAT2B,synonymous_variant,p.=,ENST00000263754,NM_003884.4;KAT2B,downstream_gene_variant,,ENST00000426228,;	G	ENST00000263754	Transcript	synonymous_variant	1283/4833	828/2499	276/832	S	tcT/tcG		1		1	KAT2B	HGNC	HGNC:8638	protein_coding	YES	CCDS2634.1	ENSP00000263754	Q92831		UPI00002132DE	NM_003884.4			5/18		Pfam_domain:PF06466,PIRSF_domain:PIRSF003048,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF116																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	20101445	20101445	T	G	1	0	0	0	0	0	0	0	1	7896	1567	55	5		5	KAT2B	3	20101445	Silent	SNP	T	C3L-00144_TP	588436	20101445	178194114	346	4625											
ZNF385D	0	.	GRCh38	chr3	21665015	21665015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccgggagagcaggactCtggcatgtaccacctgtgaa	10	6	15	10	1	1	2	0	1	1	1	1	4	1	3	3	4	2	3	3	4	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.36G>T	p.Gln12His	p.Q12H	ENST00000281523	2/8	97	81	16	77	77	0	strelka-varscan-mutect	ZNF385D,missense_variant,p.Gln12His,ENST00000281523,NM_024697.2;ZNF385D,non_coding_transcript_exon_variant,,ENST00000494108,;ZNF385D,non_coding_transcript_exon_variant,,ENST00000478967,;ZNF385D,intron_variant,,ENST00000494118,;ZNF385D,missense_variant,p.Gln12His,ENST00000446749,;	A	ENST00000281523	Transcript	missense_variant	555/10699	36/1188	12/395	Q/H	caG/caT		1		-1	ZNF385D	HGNC	HGNC:26191	protein_coding	YES	CCDS2636.1	ENSP00000281523	Q9H6B1		UPI00000724AC	NM_024697.2	tolerated(0.4)		2/8		hmmpanther:PTHR23067:SF12,hmmpanther:PTHR23067																	MODERATE	1	SNV	1			1										PASS		rs1293896581	.												A	3	1	12	21665015	21665015	C	A	1	0	0	0	0	1	0	0	0	18451	912	32	2		2	ZNF385D	3	21665015	Missense_Mutation	SNP	C	C3L-00144_TP	1563570	21665015	176630544	347	4626											
NEK10	0	.	GRCh38	chr3	27162531	27162531	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctgtcactaactcagcCtctatttccttaatgtgggc	8	13	6	14	0	3	0	2	0	1	0	4	0	4	0	3	1	2	0	3	1	3	4	rs138337780		C3L-00144_TP	C3L-00144_NB	C	C																c.2940G>T	p.Glu980Asp	p.E980D	ENST00000429845	32/39	169	153	16	119	119	0	strelka-varscan-mutect	NEK10,missense_variant,p.Glu980Asp,ENST00000429845,NM_152534.4;NEK10,missense_variant,p.Glu292Asp,ENST00000295720,NM_001304384.1;NEK10,missense_variant,p.Glu292Asp,ENST00000383771,NM_001031741.3;NEK10,intron_variant,,ENST00000383770,;NEK10,intron_variant,,ENST00000498182,;NEK10,non_coding_transcript_exon_variant,,ENST00000574215,;	A	ENST00000429845	Transcript	missense_variant	3303/4250	2940/3519	980/1172	E/D	gaG/gaT	rs138337780	1		-1	NEK10	HGNC	HGNC:18592	protein_coding			ENSP00000395849	Q6ZWH5		UPI0000EE2A86	NM_152534.4	tolerated(0.31)		32/39																			MODERATE		SNV	5			1										PASS		rs138337780	.												A	3	1	12	27162531	27162531	C	A	1	0	0	0	0	1	0	0	0	10350	680	24	2		2	NEK10	3	27162531	Missense_Mutation	SNP	C	C3L-00144_TP	5497516	27162531	171133028	348	4627											
STT3B	0	.	GRCh38	chr3	31623707	31623707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaaacatgcaactgaacagGaaaaaactgaagagggatta	20	5	11	5	0	0	3	0	2	0	1	0	6	0	6	0	3	5	1	0	3	8	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1573G>A	p.Glu525Lys	p.E525K	ENST00000295770	11/16	104	85	19	91	91	0	strelka-varscan-mutect	STT3B,missense_variant,p.Glu525Lys,ENST00000295770,NM_178862.2;STT3B,downstream_gene_variant,,ENST00000453168,;STT3B,downstream_gene_variant,,ENST00000423527,;STT3B,upstream_gene_variant,,ENST00000463044,;STT3B,downstream_gene_variant,,ENST00000436236,;	A	ENST00000295770	Transcript	missense_variant	1782/4248	1573/2481	525/826	E/K	Gaa/Aaa		1		1	STT3B	HGNC	HGNC:30611	protein_coding	YES	CCDS2650.1	ENSP00000295770	Q8TCJ2		UPI000006D7FB	NM_178862.2	tolerated(0.77)		11/16		hmmpanther:PTHR13872,hmmpanther:PTHR13872:SF25,Pfam_domain:PF02516																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	31623707	31623707	G	A	1	0	0	0	0	1	0	0	0	15717	1175	41	3		3	STT3B	3	31623707	Missense_Mutation	SNP	G	C3L-00144_TP	4461176	31623707	166671852	349	4628											
CLASP2	0	.	GRCh38	chr3	33577235	33577235	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcgggggcgtagagggCaccagttgatctggaatggt	8	9	16	8	2	1	2	0	1	1	1	2	3	1	3	1	5	0	3	1	5	2	3	rs764598812		C3L-00144_TP	C3L-00144_NB	C	C																c.1678G>C	p.Ala560Pro	p.A560P	ENST00000480013	18/33	217	198	19	192	192	0	strelka-varscan-mutect	CLASP2,missense_variant,p.Ala560Pro,ENST00000480013,NM_001207044.1;CLASP2,missense_variant,p.Ala63Pro,ENST00000475576,;CLASP2,intron_variant,,ENST00000399362,;CLASP2,intron_variant,,ENST00000359576,;CLASP2,intron_variant,,ENST00000468888,NM_015097.2;CLASP2,intron_variant,,ENST00000461133,;CLASP2,intron_variant,,ENST00000635664,;CLASP2,upstream_gene_variant,,ENST00000491045,;	G	ENST00000480013	Transcript	missense_variant	2130/5972	1678/3882	560/1293	A/P	Gcc/Ccc	rs764598812	1		-1	CLASP2	HGNC	HGNC:17078	protein_coding	YES		ENSP00000417518		J3KR49	UPI0001B7944D	NM_001207044.1	deleterious(0.02)		18/33																			MODERATE	1	SNV	5			1										PASS		rs764598812	.												G	3	3	12	33577235	33577235	C	G	1	0	0	0	0	1	0	0	0	3218	710	25	4		4	CLASP2	3	33577235	Missense_Mutation	SNP	C	C3L-00144_TP	1953528	33577235	164718324	350	4629											
ARPP21	0	.	GRCh38	chr3	35690131	35690131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaattattgatttcattgCtgacaacaagtatgttaaac	15	14	7	5	0	1	2	1	2	0	0	1	3	1	3	0	1	3	3	0	1	7	6			C3L-00144_TP	C3L-00144_NB	C	C																c.536C>T	p.Ala179Val	p.A179V	ENST00000417925	7/19	151	138	13	115	114	1	strelka-varscan-mutect	ARPP21,missense_variant,p.Ala179Val,ENST00000187397,NM_016300.4;ARPP21,missense_variant,p.Ala179Val,ENST00000444190,NM_001267617.1;ARPP21,missense_variant,p.Ala179Val,ENST00000417925,NM_001267619.1;ARPP21,missense_variant,p.Ala21Val,ENST00000425289,;ARPP21,downstream_gene_variant,,ENST00000428373,NM_001267616.1;ARPP21,downstream_gene_variant,,ENST00000441454,;ARPP21,downstream_gene_variant,,ENST00000412048,NM_001267618.1;ARPP21,downstream_gene_variant,,ENST00000396482,NM_001025069.1,NM_001025068.1;ARPP21,downstream_gene_variant,,ENST00000450234,;ARPP21,downstream_gene_variant,,ENST00000438577,;ARPP21,downstream_gene_variant,,ENST00000413378,;ARPP21,upstream_gene_variant,,ENST00000476327,;ARPP21,missense_variant,p.Ala20Val,ENST00000427590,;ARPP21,missense_variant,p.Ala42Val,ENST00000446068,;ARPP21,3_prime_UTR_variant,,ENST00000414496,;ARPP21,downstream_gene_variant,,ENST00000434383,;	T	ENST00000417925	Transcript	missense_variant	750/3086	536/2442	179/813	A/V	gCt/gTt	COSM4117000,COSM4117001	1		1	ARPP21	HGNC	HGNC:16968	protein_coding	YES	CCDS58823.1	ENSP00000412326	Q9UBL0		UPI0000209B3D	NM_001267619.1	deleterious(0)		7/19		Gene3D:3.30.1370.50,Pfam_domain:PF01424,PROSITE_profiles:PS51061,hmmpanther:PTHR15672,hmmpanther:PTHR15672:SF14,SMART_domains:SM00393,Superfamily_domains:SSF82708											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												T	3	4	12	35690131	35690131	C	T	1	0	0	0	0	1	0	0	0	1121	797	28	3		3	ARPP21	3	35690131	Missense_Mutation	SNP	C	C3L-00144_TP	2112896	35690131	162605428	351	4630											
ARPP21	0	.	GRCh38	chr3	35729438	35729438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttatccagagaatggaatagGgggccaggttgctcccagca	11	8	13	9	0	0	1	0	0	0	1	2	3	2	2	3	4	2	3	3	4	4	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1259G>T	p.Gly420Val	p.G420V	ENST00000417925	13/19	342	267	75	313	311	2	strelka-varscan-mutect	ARPP21,missense_variant,p.Gly454Val,ENST00000187397,NM_016300.4;ARPP21,missense_variant,p.Gly400Val,ENST00000444190,NM_001267617.1;ARPP21,missense_variant,p.Gly420Val,ENST00000417925,NM_001267619.1;ARPP21,missense_variant,p.Gly227Val,ENST00000425289,;ARPP21,non_coding_transcript_exon_variant,,ENST00000476327,;ARPP21,missense_variant,p.Gly112Val,ENST00000457165,;ARPP21,3_prime_UTR_variant,,ENST00000427590,;ARPP21,downstream_gene_variant,,ENST00000481854,;	T	ENST00000417925	Transcript	missense_variant	1473/3086	1259/2442	420/813	G/V	gGg/gTg		1		1	ARPP21	HGNC	HGNC:16968	protein_coding	YES	CCDS58823.1	ENSP00000412326	Q9UBL0		UPI0000209B3D	NM_001267619.1	deleterious(0.03)		13/19		hmmpanther:PTHR15672,hmmpanther:PTHR15672:SF14																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	35729438	35729438	G	T	1	0	0	0	0	1	0	0	0	1121	1232	43	2		2	ARPP21	3	35729438	Missense_Mutation	SNP	G	C3L-00144_TP	39307	35729438	162566121	352	4631											
ARPP21	0	.	GRCh38	chr3	35739495	35739495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctacaggaggattctcagGctctggccctcccatctccc	6	10	8	17	0	3	0	1	0	3	0	7	2	5	2	4	4	1	1	4	4	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1826G>T	p.Gly609Val	p.G609V	ENST00000417925	16/19	282	251	31	238	238	0	strelka-varscan-mutect	ARPP21,missense_variant,p.Gly608Val,ENST00000187397,NM_016300.4;ARPP21,missense_variant,p.Gly589Val,ENST00000444190,NM_001267617.1;ARPP21,missense_variant,p.Gly609Val,ENST00000417925,NM_001267619.1;MIR128-2,upstream_gene_variant,,ENST00000384893,;ARPP21,intron_variant,,ENST00000462173,;ARPP21,3_prime_UTR_variant,,ENST00000457165,;ARPP21,downstream_gene_variant,,ENST00000427590,;	T	ENST00000417925	Transcript	missense_variant	2040/3086	1826/2442	609/813	G/V	gGc/gTc		1		1	ARPP21	HGNC	HGNC:16968	protein_coding	YES	CCDS58823.1	ENSP00000412326	Q9UBL0		UPI0000209B3D	NM_001267619.1	tolerated(0.1)		16/19		hmmpanther:PTHR15672,hmmpanther:PTHR15672:SF14																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	35739495	35739495	G	T	1	0	0	0	0	1	0	0	0	1121	1203	42	2		2	ARPP21	3	35739495	Missense_Mutation	SNP	G	C3L-00144_TP	10057	35739495	162556064	353	4632											
GOLGA4	0	.	GRCh38	chr3	37323915	37323915	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaatgaaaagactttaGaaaagcttgatgtgaagcaa	20	9	9	3	0	0	6	0	4	0	2	0	6	0	6	0	0	2	2	0	0	9	3	rs772532911		C3L-00144_TP	C3L-00144_NB	G	G																c.2095G>T	p.Glu699Ter	p.E699*	ENST00000356847	15/23	165	155	10	166	163	3	strelka-varscan-mutect	GOLGA4,stop_gained,p.Glu677Ter,ENST00000361924,NM_002078.4;GOLGA4,stop_gained,p.Glu699Ter,ENST00000356847,NM_001172713.1;GOLGA4,stop_gained,p.Glu548Ter,ENST00000437131,;GOLGA4,stop_gained,p.Glu238Ter,ENST00000429018,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,downstream_gene_variant,,ENST00000435830,;GOLGA4,upstream_gene_variant,,ENST00000498250,;GOLGA4,downstream_gene_variant,,ENST00000497537,;	T	ENST00000356847	Transcript	stop_gained	2394/7673	2095/6732	699/2243	E/*	Gaa/Taa	rs772532911	1		1	GOLGA4	HGNC	HGNC:4427	protein_coding	YES	CCDS54564.1	ENSP00000349305	Q13439		UPI000198C9CA	NM_001172713.1			15/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19327																	HIGH	1	SNV	1			1										PASS		rs772532911	.												T	4	4	12	37323915	37323915	G	T	1	0	0	0	0	0	1	0	0	6433	943	33	2		2	GOLGA4	3	37323915	Nonsense_Mutation	SNP	G	C3L-00144_TP	1584420	37323915	160971644	354	4633											
GOLGA4	0	.	GRCh38	chr3	37326250	37326250	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacagtcaagatttacacAgcatcaaaacactgttaaag	18	8	6	9	0	2	1	2	0	0	1	2	1	2	1	0	0	4	3	0	0	6	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.4430A>T	p.Gln1477Leu	p.Q1477L	ENST00000356847	15/23	205	165	40	185	185	0	strelka-varscan-mutect	GOLGA4,missense_variant,p.Gln1455Leu,ENST00000361924,NM_002078.4;GOLGA4,missense_variant,p.Gln1477Leu,ENST00000356847,NM_001172713.1;GOLGA4,missense_variant,p.Gln1326Leu,ENST00000437131,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,downstream_gene_variant,,ENST00000429018,;GOLGA4,upstream_gene_variant,,ENST00000498250,;GOLGA4,downstream_gene_variant,,ENST00000497537,;	T	ENST00000356847	Transcript	missense_variant	4729/7673	4430/6732	1477/2243	Q/L	cAg/cTg		1		1	GOLGA4	HGNC	HGNC:4427	protein_coding	YES	CCDS54564.1	ENSP00000349305	Q13439		UPI000198C9CA	NM_001172713.1	deleterious(0.03)		15/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19327																	MODERATE	1	SNV	1			1										PASS		rs1281035493	.												T	3	4	12	37326250	37326250	A	T	1	0	0	0	0	1	0	0	0	6433	188	7	4		4	GOLGA4	3	37326250	Missense_Mutation	SNP	A	C3L-00144_TP	2335	37326250	160969309	355	4634											
TTC21A	0	.	GRCh38	chr3	39128914	39128914	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggaactggtggaggccctCcggctgaatggggagctagt	7	9	17	8	1	0	1	0	1	0	0	1	4	1	4	2	7	2	2	2	7	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1899C>A	p.=	p.L633L	ENST00000431162	14/29	209	161	48	175	175	0	strelka-varscan-mutect	TTC21A,synonymous_variant,p.=,ENST00000431162,NM_145755.2;TTC21A,synonymous_variant,p.=,ENST00000440121,NM_001105513.2;TTC21A,non_coding_transcript_exon_variant,,ENST00000466875,;TTC21A,upstream_gene_variant,,ENST00000493856,;TTC21A,upstream_gene_variant,,ENST00000472866,;TTC21A,upstream_gene_variant,,ENST00000481734,;TTC21A,upstream_gene_variant,,ENST00000471025,;TTC21A,synonymous_variant,p.=,ENST00000430597,;TTC21A,upstream_gene_variant,,ENST00000473587,;	A	ENST00000431162	Transcript	synonymous_variant	2033/4209	1899/3963	633/1320	L	ctC/ctA		1		1	TTC21A	HGNC	HGNC:30761	protein_coding	YES	CCDS46800.1	ENSP00000398211	Q8NDW8		UPI00015D46B9	NM_145755.2			14/29		hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF2,Gene3D:1.25.40.10																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	39128914	39128914	C	A	1	0	0	0	0	0	0	0	1	17195	842	30	2		2	TTC21A	3	39128914	Silent	SNP	C	C3L-00144_TP	1802664	39128914	159166645	356	4635											
ACKR2	0	.	GRCh38	chr3	42864686	42864686	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttttgtgttgggcctcAgcgggaacctccttcttctc	4	16	10	11	1	3	1	1	1	2	0	5	2	4	2	3	2	2	1	3	2	1	5	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.184A>T	p.Ser62Cys	p.S62C	ENST00000422265	3/3	227	206	21	196	196	0	strelka-varscan-mutect	ACKR2,missense_variant,p.Ser62Cys,ENST00000422265,NM_001296.4;ACKR2,missense_variant,p.Ser62Cys,ENST00000442925,;ACKR2,missense_variant,p.Ser62Cys,ENST00000493193,;ACKR2,missense_variant,p.Ser62Cys,ENST00000494619,;ACKR2,missense_variant,p.Ser62Cys,ENST00000497921,;ACKR2,missense_variant,p.Ser62Cys,ENST00000492609,;CYP8B1,intron_variant,,ENST00000437102,;KRBOX1,intron_variant,,ENST00000426937,;ACKR2,non_coding_transcript_exon_variant,,ENST00000498111,;ACKR2,non_coding_transcript_exon_variant,,ENST00000460855,;RP11-141M3.6,intron_variant,,ENST00000471537,;RP11-141M3.6,intron_variant,,ENST00000496604,;RP11-136C24.3,intron_variant,,ENST00000451200,;RP11-141M3.6,intron_variant,,ENST00000487368,;ACKR2,downstream_gene_variant,,ENST00000463699,;	T	ENST00000422265	Transcript	missense_variant	359/2956	184/1155	62/384	S/C	Agc/Tgc		1		1	ACKR2	HGNC	HGNC:1565	protein_coding	YES	CCDS2706.1	ENSP00000416996	O00590	A0A024R2X7	UPI000004358E	NM_001296.4	deleterious(0.03)		3/3		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF735,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	42864686	42864686	A	T	1	0	0	0	0	1	0	0	0	182	188	7	4		4	ACKR2	3	42864686	Missense_Mutation	SNP	A	C3L-00144_TP	3735772	42864686	155430873	357	4636											
TOPAZ1	0	.	GRCh38	chr3	44270754	44270754	+	Missense_Mutation	SNP	G	G	T																															ttcattttaatacattacgtGgctgtgagcgaccactgtgc																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3316G>T	p.Gly1106Cys	p.G1106C	ENST00000309765	8/20	170	137	33	147	147	0	strelka-varscan-mutect	TOPAZ1,missense_variant,p.Gly1106Cys,ENST00000309765,NM_001145030.1;	T	ENST00000309765	Transcript	missense_variant	3484/5334	3316/5079	1106/1692	G/C	Ggc/Tgc		1		1	TOPAZ1	HGNC	HGNC:24746	protein_coding	YES	CCDS46809.1	ENSP00000310303	Q8N9V7		UPI000047FF75	NM_001145030.1	deleterious(0)		8/20		hmmpanther:PTHR35671,hmmpanther:PTHR35671:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	44270754	44270754	G	T	1	0	0	0	0	1	0	0	0	16845	1348	47	2		2	TOPAZ1	3	44270754	Missense_Mutation	SNP	G	C3L-00144_TP	1406068	44270754	154024805	358	4637	105	2									
TOPAZ1	0	.	GRCh38	chr3	44270755	44270755	+	Missense_Mutation	SNP	G	G	T																															tcattttaatacattacgtgGctgtgagcgaccactgtgca																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3317G>T	p.Gly1106Val	p.G1106V	ENST00000309765	8/20	171	140	31	145	145	0	strelka-varscan-mutect	TOPAZ1,missense_variant,p.Gly1106Val,ENST00000309765,NM_001145030.1;	T	ENST00000309765	Transcript	missense_variant	3485/5334	3317/5079	1106/1692	G/V	gGc/gTc		1		1	TOPAZ1	HGNC	HGNC:24746	protein_coding	YES	CCDS46809.1	ENSP00000310303	Q8N9V7		UPI000047FF75	NM_001145030.1	deleterious(0)		8/20		hmmpanther:PTHR35671,hmmpanther:PTHR35671:SF1																	MODERATE	1	SNV	5			1										PASS		rs1296824689	.												T	3	4	12	44270755	44270755	G	T	1	0	0	0	0	1	0	0	0	16845	1203	42	2		2	TOPAZ1	3	44270755	Missense_Mutation	SNP	G	C3L-00144_TP	1	44270755	154024804	359	4638	105	2									
KIF15	0	.	GRCh38	chr3	44838372	44838372	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgctgcagtctgcccAggaagaactgaccaagaagg	11	5	15	10	0	1	3	0	1	1	2	1	4	1	4	2	4	4	3	2	4	4	0	rs753025763		C3L-00144_TP	C3L-00144_NB	A	A																c.3269A>C	p.Gln1090Pro	p.Q1090P	ENST00000326047	27/35	101	93	8	94	94	0	strelka-varscan-mutect	KIF15,missense_variant,p.Gln1090Pro,ENST00000326047,NM_020242.2;KIF15,missense_variant,p.Gln725Pro,ENST00000425755,;KIF15,3_prime_UTR_variant,,ENST00000438321,;KIF15,3_prime_UTR_variant,,ENST00000453693,;KIF15,upstream_gene_variant,,ENST00000422209,;	C	ENST00000326047	Transcript	missense_variant	3418/4842	3269/4167	1090/1388	Q/P	cAg/cCg	rs753025763	1		1	KIF15	HGNC	HGNC:17273	protein_coding	YES	CCDS33744.1	ENSP00000324020	Q9NS87		UPI000006DB0E	NM_020242.2	deleterious(0)		27/35		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF502,hmmpanther:PTHR24115																	MODERATE	1	SNV	1			1										PASS		rs753025763	.												C	3	2	12	44838372	44838372	A	C	1	0	0	0	0	1	0	0	0	8141	188	7	5		5	KIF15	3	44838372	Missense_Mutation	SNP	A	C3L-00144_TP	567617	44838372	153457187	360	4639											
EXOSC7	0	.	GRCh38	chr3	45011247	45011247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacagactggcaagcgtGtgggcaaggtactgcatgcc	9	7	13	12	1	0	1	0	0	0	1	1	1	1	1	2	3	4	4	2	3	3	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.784G>T	p.Val262Leu	p.V262L	ENST00000265564	8/8	123	101	22	132	132	0	strelka-varscan-mutect	EXOSC7,missense_variant,p.Val262Leu,ENST00000265564,NM_015004.3;EXOSC7,non_coding_transcript_exon_variant,,ENST00000461361,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000491476,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000468667,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000459856,;EXOSC7,intron_variant,,ENST00000481405,;CLEC3B,intron_variant,,ENST00000490386,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000486727,;	T	ENST00000265564	Transcript	missense_variant	832/1055	784/876	262/291	V/L	Gtg/Ttg		1		1	EXOSC7	HGNC	HGNC:28112	protein_coding	YES	CCDS2725.1	ENSP00000265564	Q15024	A0A024R2P7	UPI000020A5E9	NM_015004.3	deleterious(0.02)		8/8		hmmpanther:PTHR11097,hmmpanther:PTHR11097:SF8,Superfamily_domains:SSF55666																	MODERATE	1	SNV	1			1										PASS		rs1166502441	.												T	3	4	12	45011247	45011247	G	T	1	0	0	0	0	1	0	0	0	5187	1377	48	2		2	EXOSC7	3	45011247	Missense_Mutation	SNP	G	C3L-00144_TP	172875	45011247	153284312	361	4640											
XCR1	0	.	GRCh38	chr3	46021507	46021507	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacagccatggtcaccagCacccggcagcggagggtggg	9	3	15	14	2	1	0	1	0	0	0	1	1	1	1	3	5	3	2	3	5	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.441G>T	p.=	p.V147V	ENST00000309285	2/2	231	200	31	244	244	0	strelka-varscan-mutect	XCR1,synonymous_variant,p.=,ENST00000309285,NM_005283.2,NM_001024644.1;XCR1,downstream_gene_variant,,ENST00000395946,;NRBF2P2,upstream_gene_variant,,ENST00000413087,;	A	ENST00000309285	Transcript	synonymous_variant	798/5281	441/1002	147/333	V	gtG/gtT		1		-1	XCR1	HGNC	HGNC:1625	protein_coding	YES	CCDS2736.1	ENSP00000310405	P46094		UPI000004358D	NM_005283.2,NM_001024644.1			2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF730,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	46021507	46021507	C	A	1	0	0	0	0	0	0	0	1	17984	697	25	2		2	XCR1	3	46021507	Silent	SNP	C	C3L-00144_TP	1010260	46021507	152274052	362	4641											
CCR1	0	.	GRCh38	chr3	46203377	46203377	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcctgtggaacaactgccGcaggtacttccggaacctct	9	8	10	14	3	1	0	0	0	1	0	2	2	2	2	4	3	5	2	4	3	4	2	rs745406212		C3L-00144_TP	C3L-00144_NB	G	G																c.937C>A	p.=	p.R313R	ENST00000296140	2/2	274	214	60	247	247	0	strelka-varscan-mutect	CCR1,synonymous_variant,p.=,ENST00000296140,NM_001295.2;CCR3,intron_variant,,ENST00000357422,;	T	ENST00000296140	Transcript	synonymous_variant	1063/2731	937/1068	313/355	R	Cgg/Agg	rs745406212	1		-1	CCR1	HGNC	HGNC:1602	protein_coding	YES	CCDS2737.1	ENSP00000296140	P32246	Q5U003	UPI0000043584	NM_001295.2			2/2		hmmpanther:PTHR10489:SF711,hmmpanther:PTHR10489,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01106,Prints_domain:PR00657																	LOW	1	SNV	1			1										PASS		rs745406212	.												T	2	4	12	46203377	46203377	G	T	1	0	0	0	0	0	0	0	1	2639	1086	38	1		1	CCR1	3	46203377	Silent	SNP	G	C3L-00144_TP	181870	46203377	152092182	363	4642											
NBEAL2	0	.	GRCh38	chr3	46991627	46991627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgtccttaatgctgactgGccagctggtctgagctcagg	7	11	12	11	0	2	2	1	2	1	0	3	2	3	2	2	3	3	3	2	3	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.864G>T	p.Trp288Cys	p.W288C	ENST00000450053	8/54	268	227	41	221	221	0	strelka-varscan-mutect	NBEAL2,missense_variant,p.Trp288Cys,ENST00000450053,NM_015175.2;NBEAL2,upstream_gene_variant,,ENST00000416683,;	T	ENST00000450053	Transcript	missense_variant	1043/8827	864/8265	288/2754	W/C	tgG/tgT		1		1	NBEAL2	HGNC	HGNC:31928	protein_coding	YES	CCDS46817.1	ENSP00000415034	Q6ZNJ1		UPI000022C020	NM_015175.2	tolerated(0.18)		8/54		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF50																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	46991627	46991627	G	T	1	0	0	0	0	1	0	0	0	10200	1212	42	2		2	NBEAL2	3	46991627	Missense_Mutation	SNP	G	C3L-00144_TP	788250	46991627	151303932	364	4643											
SPINK8	0	.	GRCh38	chr3	48309917	48309917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacttacacattgtccatcaTacagtttagttatgttaagc	12	16	5	8	0	1	0	1	0	0	0	2	0	2	0	1	0	4	3	1	0	6	8	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.269A>G	p.Tyr90Cys	p.Y90C	ENST00000434006	4/5	58	45	13	83	83	0	strelka-mutect	SPINK8,missense_variant,p.Tyr90Cys,ENST00000434006,NM_001080525.1;	C	ENST00000434006	Transcript	missense_variant	269/444	269/294	90/97	Y/C	tAt/tGt		1		-1	SPINK8	HGNC	HGNC:33160	protein_coding	YES	CCDS46822.1	ENSP00000407497	P0C7L1		UPI00006C0662	NM_001080525.1	deleterious(0)		4/5		PROSITE_profiles:PS51465,hmmpanther:PTHR21312:SF37,hmmpanther:PTHR21312,Gene3D:3.30.60.30,Pfam_domain:PF00050,SMART_domains:SM00280,Superfamily_domains:SSF100895																	MODERATE	1	SNV	3			1										PASS		.	.												C	3	2	12	48309917	48309917	T	C	1	0	0	0	0	1	0	0	0	15418	1406	49	5		5	SPINK8	3	48309917	Missense_Mutation	SNP	T	C3L-00144_TP	1318290	48309917	149985642	365	4644											
ATRIP	0	.	GRCh38	chr3	48450171	48450171	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaaagaacttaaagaaaagGtaagtgacttaacttgtggt	18	10	9	4	0	0	3	0	1	0	2	0	3	0	3	0	2	2	1	0	2	8	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.381+1G>A		p.X127_splice	ENST00000320211		92	85	7	85	84	1	strelka-varscan-mutect	ATRIP,splice_donor_variant,,ENST00000412052,NM_001271023.1;ATRIP,splice_donor_variant,,ENST00000320211,NM_130384.2;ATRIP,splice_donor_variant,,ENST00000346691,NM_032166.3;ATRIP,splice_donor_variant,,ENST00000357105,NM_001271022.1;ATRIP,splice_donor_variant,,ENST00000635099,;RP11-24C3.2,upstream_gene_variant,,ENST00000438872,;RP11-24C3.2,upstream_gene_variant,,ENST00000435578,;ATRIP,splice_donor_variant,,ENST00000634384,;ATRIP,splice_donor_variant,,ENST00000635464,;ATRIP,splice_donor_variant,,ENST00000635082,;ATRIP,upstream_gene_variant,,ENST00000635084,;	A	ENST00000320211	Transcript	splice_donor_variant	-/2590	381/2376	127/791				1		1	ATRIP	HGNC	HGNC:33499	protein_coding	YES	CCDS2768.1	ENSP00000323099	Q8WXE1	A0A024R2U4	UPI0000070A6A	NM_130384.2				2/12																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	12	48450171	48450171	G	A	1	0	0	0	0	0	0	1	0	1358	1275	44	3		3	ATRIP	3	48450171	Splice_Site	SNP	G	C3L-00144_TP	140254	48450171	149845388	366	4645											
COL7A1	0	.	GRCh38	chr3	48581704	48581704	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaacacttcgcttcacttAcccgttccccttggactccg	7	12	5	17	3	1	0	1	0	0	0	4	1	3	1	4	1	2	2	4	1	3	6	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.4722+2T>C		p.X1574_splice	ENST00000328333		670	527	143	631	631	0	strelka-varscan-mutect	COL7A1,splice_donor_variant,,ENST00000328333,NM_000094.3;COL7A1,upstream_gene_variant,,ENST00000390201,;COL7A1,splice_donor_variant,,ENST00000487017,;	G	ENST00000328333	Transcript	splice_donor_variant	-/9276	4722/8835	1574/2944				1		-1	COL7A1	HGNC	HGNC:2214	protein_coding	YES	CCDS2773.1	ENSP00000332371	Q02388		UPI0000126D20	NM_000094.3				48/117																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	12	48581704	48581704	A	G	1	0	0	0	0	0	0	1	0	3493	405	14	5		5	COL7A1	3	48581704	Splice_Site	SNP	A	C3L-00144_TP	131533	48581704	149713855	367	4646											
SLC26A6	0	.	GRCh38	chr3	48628702	48628702	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggaagaccttcaccccccGgacttccttggcctggggat	6	8	12	15	2	1	1	1	0	0	1	2	4	2	4	6	5	0	0	6	5	1	3	rs747181205		C3L-00144_TP	C3L-00144_NB	G	G																c.1612C>A	p.=	p.R538R	ENST00000395550	15/21	247	222	25	220	219	1	strelka-varscan-mutect	SLC26A6,synonymous_variant,p.=,ENST00000358747,NM_001040454.1;SLC26A6,synonymous_variant,p.=,ENST00000420764,NM_134263.2;SLC26A6,synonymous_variant,p.=,ENST00000395550,NM_022911.2;SLC26A6,synonymous_variant,p.=,ENST00000383733,NM_134426.2;SLC26A6,synonymous_variant,p.=,ENST00000455886,NM_001281732.1;SLC26A6,synonymous_variant,p.=,ENST00000337000,NM_001281733.1;SLC26A6,downstream_gene_variant,,ENST00000421649,;SLC26A6,downstream_gene_variant,,ENST00000431739,;SLC26A6,downstream_gene_variant,,ENST00000426599,;SLC26A6,downstream_gene_variant,,ENST00000611478,;SLC26A6,downstream_gene_variant,,ENST00000482282,;SLC26A6,3_prime_UTR_variant,,ENST00000307364,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000480524,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000496469,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000462009,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000469693,;SLC26A6,intron_variant,,ENST00000489483,;SLC26A6,downstream_gene_variant,,ENST00000444531,;SLC26A6,downstream_gene_variant,,ENST00000414944,;SLC26A6,upstream_gene_variant,,ENST00000466257,;SLC26A6,downstream_gene_variant,,ENST00000485361,;SLC26A6,downstream_gene_variant,,ENST00000431213,;SLC26A6,downstream_gene_variant,,ENST00000494717,;	T	ENST00000395550	Transcript	synonymous_variant	1660/2589	1612/2280	538/759	R	Cgg/Agg	rs747181205	1		-1	SLC26A6	HGNC	HGNC:14472	protein_coding	YES	CCDS43087.1	ENSP00000378920	Q9BXS9		UPI0000135460	NM_022911.2			15/21		PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF113,Gene3D:3.30.750.24,Pfam_domain:PF01740,TIGRFAM_domain:TIGR00815,Superfamily_domains:SSF52091																	LOW	1	SNV	1			1										PASS		rs747181205	.												T	2	4	12	48628702	48628702	G	T	1	0	0	0	0	0	0	0	1	14791	1115	39	1		1	SLC26A6	3	48628702	Silent	SNP	G	C3L-00144_TP	46998	48628702	149666857	368	4647											
ARIH2OS	0	.	GRCh38	chr3	48918850	48918851	+	Frame_Shift_Ins	INS	-	-	T																															caagcacttccggagctgtgINSgggacgactcttctggagga																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.299_300insA	p.Thr101HisfsTer34	p.T101Hfs*34	ENST00000408959	1/1	169	149	20	139	139	0	sindel-varindel-pindel	ARIH2OS,frameshift_variant,p.Thr101HisfsTer34,ENST00000408959,NM_001123040.1;ARIH2,5_prime_UTR_variant,,ENST00000356401,NM_006321.2;ARIH2,5_prime_UTR_variant,,ENST00000449376,;ARIH2,5_prime_UTR_variant,,ENST00000430423,;ARIH2,5_prime_UTR_variant,,ENST00000452882,;ARIH2,upstream_gene_variant,,ENST00000420814,;ARIH2,upstream_gene_variant,,ENST00000449729,;ARIH2,upstream_gene_variant,,ENST00000433170,;ARIH2,non_coding_transcript_exon_variant,,ENST00000490095,;ARIH2,non_coding_transcript_exon_variant,,ENST00000483333,;ARIH2,non_coding_transcript_exon_variant,,ENST00000498314,;ARIH2,non_coding_transcript_exon_variant,,ENST00000495761,;ARIH2,non_coding_transcript_exon_variant,,ENST00000474618,;ARIH2,non_coding_transcript_exon_variant,,ENST00000482427,;ARIH2,non_coding_transcript_exon_variant,,ENST00000488963,;ARIH2,non_coding_transcript_exon_variant,,ENST00000478224,;ARIH2,upstream_gene_variant,,ENST00000484999,;ARIH2,upstream_gene_variant,,ENST00000474936,;ARIH2,upstream_gene_variant,,ENST00000470296,;ARIH2,upstream_gene_variant,,ENST00000486316,;ARIH2,non_coding_transcript_exon_variant,,ENST00000492077,;ARIH2,non_coding_transcript_exon_variant,,ENST00000463738,;ARIH2,upstream_gene_variant,,ENST00000466850,;	T	ENST00000408959	Transcript	frameshift_variant	535-536/1598	299-300/873	100/290	P/PX	ccc/ccAc		1		-1	ARIH2OS	HGNC	HGNC:34425	protein_coding	YES	CCDS43088.1	ENSP00000386193	Q8N7S6		UPI00000710A2	NM_001123040.1			1/1																			HIGH		insertion				1										PASS		.	.												T	7	5	12	48918850	48918850	-	T	1	0	1	1	0	0	0	0	0	1061	1335	47	0		0	ARIH2OS	3	48918850	Frame_Shift_Ins	INS	-	C3L-00144_TP	290148	48918850	149376709	369	4648											
USP19	0	.	GRCh38	chr3	49116790	49116790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcacagtcatctttccCagggtttctgctccggacca	6	12	9	14	1	3	0	1	0	2	0	5	1	5	1	3	3	1	3	3	3	0	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1063G>T	p.Gly355Trp	p.G355W	ENST00000434032	7/27	91	59	32	66	66	0	strelka-varscan-mutect	USP19,missense_variant,p.Gly345Trp,ENST00000453664,NM_001199162.1;USP19,missense_variant,p.Gly355Trp,ENST00000417901,NM_001199161.1;USP19,missense_variant,p.Gly355Trp,ENST00000434032,NM_001199160.1;USP19,missense_variant,p.Gly292Trp,ENST00000398892,;USP19,missense_variant,p.Gly254Trp,ENST00000398888,NM_006677.2;USP19,missense_variant,p.Gly292Trp,ENST00000398898,;USP19,missense_variant,p.Gly151Trp,ENST00000398896,;USP19,missense_variant,p.Gly340Trp,ENST00000306026,;USP19,missense_variant,p.Gly102Trp,ENST00000479073,;LAMB2,downstream_gene_variant,,ENST00000418109,NM_002292.3;LAMB2,downstream_gene_variant,,ENST00000305544,;USP19,non_coding_transcript_exon_variant,,ENST00000464931,;USP19,downstream_gene_variant,,ENST00000488993,;USP19,downstream_gene_variant,,ENST00000491859,;USP19,downstream_gene_variant,,ENST00000465902,;USP19,downstream_gene_variant,,ENST00000480163,;LAMB2,downstream_gene_variant,,ENST00000498377,;LAMB2,downstream_gene_variant,,ENST00000467506,;LAMB2,downstream_gene_variant,,ENST00000484713,;	A	ENST00000434032	Transcript	missense_variant	1275/4677	1063/4260	355/1419	G/W	Ggg/Tgg		1		-1	USP19	HGNC	HGNC:12617	protein_coding	YES	CCDS56254.1	ENSP00000401197	O94966		UPI000198CAB3	NM_001199160.1	deleterious_low_confidence(0)		7/27																			MODERATE		SNV	2			1										PASS		.	.												A	3	1	12	49116790	49116790	C	A	1	0	0	0	0	1	0	0	0	17591	594	21	2		2	USP19	3	49116790	Missense_Mutation	SNP	C	C3L-00144_TP	197940	49116790	149178769	370	4649											
LAMB2	0	.	GRCh38	chr3	49132821	49132821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcccagtcgaagttccCagggcagaggctgtcccctc	7	7	13	14	1	0	1	0	0	0	1	4	2	2	1	4	3	0	4	4	3	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.47G>T	p.Trp16Leu	p.W16L	ENST00000418109	2/33	264	237	27	226	226	0	strelka-varscan-mutect	LAMB2,missense_variant,p.Trp16Leu,ENST00000418109,NM_002292.3;LAMB2,missense_variant,p.Trp16Leu,ENST00000305544,;LAMB2,intron_variant,,ENST00000494831,;LAMB2,upstream_gene_variant,,ENST00000486298,;LAMB2,upstream_gene_variant,,ENST00000483321,;LAMB2,upstream_gene_variant,,ENST00000488638,;	A	ENST00000418109	Transcript	missense_variant	212/5674	47/5397	16/1798	W/L	tGg/tTg		1		-1	LAMB2	HGNC	HGNC:6487	protein_coding	YES	CCDS2789.1	ENSP00000388325	P55268	A0A024R319	UPI000013EA62	NM_002292.3	tolerated(0.44)		2/33		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF36,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs1051360734	.												A	3	1	12	49132821	49132821	C	A	1	0	0	0	0	1	0	0	0	8515	595	21	2		2	LAMB2	3	49132821	Missense_Mutation	SNP	C	C3L-00144_TP	16031	49132821	149162738	371	4650											
KLHDC8B	0	.	GRCh38	chr3	49175135	49175135	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgtggttgggtcccttggGggccacattgtggccattgg	3	14	16	8	0	0	0	0	0	0	0	1	0	1	0	3	6	0	1	3	6	0	5			C3L-00144_TP	C3L-00144_NB	G	G																c.840G>T	p.=	p.G280G	ENST00000332780	5/6	153	134	19	108	108	0	strelka-varscan-mutect	KLHDC8B,synonymous_variant,p.=,ENST00000332780,NM_173546.2;C3orf84,downstream_gene_variant,,ENST00000545770,NM_001080528.2;C3orf84,downstream_gene_variant,,ENST00000432035,;KLHDC8B,non_coding_transcript_exon_variant,,ENST00000459846,;KLHDC8B,intron_variant,,ENST00000462582,;KLHDC8B,downstream_gene_variant,,ENST00000476495,;C3orf84,downstream_gene_variant,,ENST00000443990,;KLHDC8B,non_coding_transcript_exon_variant,,ENST00000471811,;	T	ENST00000332780	Transcript	synonymous_variant	1049/1959	840/1065	280/354	G	ggG/ggT	COSM3595249	1		1	KLHDC8B	HGNC	HGNC:28557	protein_coding	YES	CCDS2791.1	ENSP00000327468	Q8IXV7	A0A024R2X4	UPI000004EE01	NM_173546.2			5/6		Superfamily_domains:0052715,Gene3D:1zgkA00,Pfam_domain:PF01344,SMART_domains:SM00612											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	12	49175135	49175135	G	T	1	0	0	0	0	0	0	0	1	8227	1219	43	2		2	KLHDC8B	3	49175135	Silent	SNP	G	C3L-00144_TP	42314	49175135	149120424	372	4651											
RNF123	0	.	GRCh38	chr3	49697940	49697940	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taccacatgcgtgtacaaagGtgagaccttaccctgctgtg	10	10	10	11	1	0	1	0	1	0	1	0	2	0	1	3	1	5	2	3	1	4	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.397+1G>T		p.X133_splice	ENST00000327697		309	273	36	245	245	0	strelka-varscan-mutect	RNF123,splice_donor_variant,,ENST00000327697,NM_022064.3;RNF123,splice_donor_variant,,ENST00000432042,;RNF123,downstream_gene_variant,,ENST00000454491,;RNF123,downstream_gene_variant,,ENST00000629802,;RNF123,splice_donor_variant,,ENST00000487805,;RNF123,splice_donor_variant,,ENST00000486102,;RNF123,splice_donor_variant,,ENST00000457726,;RNF123,upstream_gene_variant,,ENST00000494005,;RNF123,downstream_gene_variant,,ENST00000443204,;	T	ENST00000327697	Transcript	splice_donor_variant	-/4311	397/3945	133/1314				1		1	RNF123	HGNC	HGNC:21148	protein_coding	YES	CCDS33758.1	ENSP00000328287	Q5XPI4		UPI00001D6A07	NM_022064.3				6/38																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	12	49697940	49697940	G	T	1	0	0	0	0	0	0	1	0	13611	1275	44	2		2	RNF123	3	49697940	Splice_Site	SNP	G	C3L-00144_TP	522805	49697940	148597619	373	4652											
SEMA3F	0	.	GRCh38	chr3	50182391	50182401	+	Frame_Shift_Del	DEL	CGGTGGCTGAA	CGGTGGCTGAA	-																															gcacggatcagtacaactccCggtggctgaacggtaagcgc																								novel		C3L-00144_TP	C3L-00144_NB	CGGTGGCTGAA	CGGTGGCTGAA																c.755_763+2delGGCTGAACGGT			ENST00000002829	8/19	254	229	25	201	201	0	sindel-pindel	SEMA3F,frameshift_variant,,ENST00000002829,NM_004186.3;SEMA3F,frameshift_variant,,ENST00000434342,NM_001318800.1;SEMA3F,frameshift_variant,,ENST00000413852,NM_001318798.1;SEMA3F,frameshift_variant,,ENST00000450338,;SEMA3F,frameshift_variant,,ENST00000414301,;SEMA3F,upstream_gene_variant,,ENST00000470737,;SEMA3F,upstream_gene_variant,,ENST00000493743,;	-	ENST00000002829	Transcript	frameshift_variant,splice_region_variant	1235-1245/3802	751-761/2358	251-254/785	RWLN/X	CGGTGGCTGAAc/c		1		1	SEMA3F	HGNC	HGNC:10728	protein_coding	YES	CCDS2811.1	ENSP00000002829	Q13275		UPI0000135A69	NM_004186.3			8/19		PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF27,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	12	50182391	50182391	CGGTGGCTGAA	-	1	0	1	0	1	0	0	0	0	14305	643	23	0		0	SEMA3F	3	50182391	Frame_Shift_Del	DEL	CGGTGGCTGAA	C3L-00144_TP	484451	50182391	148113168	374	4653											
SEMA3B	0	.	GRCh38	chr3	50275319	50275319	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaccagctgtacgtagcCtcgcggagcgcggtggccca	7	6	14	14	5	0	0	0	0	0	0	1	1	0	1	3	3	5	4	3	3	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1524C>G	p.=	p.A508A	ENST00000611067	14/17	68	52	16	39	39	0	strelka-varscan-mutect	SEMA3B,synonymous_variant,p.=,ENST00000616701,NM_001290060.1;SEMA3B,synonymous_variant,p.=,ENST00000618865,NM_004636.3;SEMA3B,synonymous_variant,p.=,ENST00000433753,NM_001005914.2;SEMA3B,synonymous_variant,p.=,ENST00000611067,NM_001290061.1;SEMA3B,synonymous_variant,p.=,ENST00000456560,NM_001290063.1,NM_001290062.1;SEMA3B,synonymous_variant,p.=,ENST00000418576,;LSMEM2,upstream_gene_variant,,ENST00000316436,NM_153215.2,NM_001304385.1;SEMA3B,downstream_gene_variant,,ENST00000621029,;SEMA3B,downstream_gene_variant,,ENST00000612981,;SEMA3B,intron_variant,,ENST00000456210,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000419007,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000619119,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000441915,;SEMA3B,non_coding_transcript_exon_variant,,ENST00000416295,;SEMA3B,downstream_gene_variant,,ENST00000612509,;SEMA3B,downstream_gene_variant,,ENST00000434030,;SEMA3B,downstream_gene_variant,,ENST00000439487,;	G	ENST00000611067	Transcript	synonymous_variant	1551/2292	1524/2265	508/754	A	gcC/gcG		1		1	SEMA3B	HGNC	HGNC:10724	protein_coding	YES	CCDS77743.1	ENSP00000480680		A0A0C4DGV8	UPI000007272A	NM_001290061.1			14/17		Gene3D:2.130.10.10,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF37,Superfamily_domains:SSF101912																	LOW	1	SNV	1			1										PASS		rs1444261661	.												G	2	3	12	50275319	50275319	C	G	1	0	0	0	0	0	0	0	1	14301	668	24	4		4	SEMA3B	3	50275319	Silent	SNP	C	C3L-00144_TP	92928	50275319	148020240	375	4654											
RBM15B	0	.	GRCh38	chr3	51391843	51391843	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcagcagcttgagcccCgcgctgcccgccgagcacct	6	6	10	19	4	2	1	2	1	0	0	2	2	2	1	5	0	5	4	5	0	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.444C>T	p.=	p.P148P	ENST00000563281	1/1	290	261	29	208	208	0	strelka-varscan-mutect	RBM15B,synonymous_variant,p.=,ENST00000563281,NM_013286.4;DCAF1,downstream_gene_variant,,ENST00000504652,NM_001171904.1;DCAF1,downstream_gene_variant,,ENST00000423656,NM_014703.2;MANF,downstream_gene_variant,,ENST00000528157,NM_006010.5;MANF,downstream_gene_variant,,ENST00000470900,;MANF,downstream_gene_variant,,ENST00000446668,;MANF,downstream_gene_variant,,ENST00000482262,;	T	ENST00000563281	Transcript	synonymous_variant	576/6641	444/2673	148/890	P	ccC/ccT		1		1	RBM15B	HGNC	HGNC:24303	protein_coding	YES	CCDS33764.1	ENSP00000454545	Q8NDT2		UPI0000160BDE	NM_013286.4			1/1		Gene3D:3.30.70.330,PROSITE_profiles:PS50102,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF40,Low_complexity_(Seg):seg,SMART_domains:SM00360,Superfamily_domains:SSF54928																	LOW		SNV				1										PASS		.	.												T	2	4	12	51391843	51391843	C	T	1	0	0	0	0	0	0	0	1	13283	639	23	1		1	RBM15B	3	51391843	Silent	SNP	C	C3L-00144_TP	1116524	51391843	146903716	376	4655											
RAD54L2	0	.	GRCh38	chr3	51590463	51590463	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagcgatccagacctggacCcggacgtggagctggaggat	9	5	17	10	3	0	1	0	0	0	1	1	8	1	7	3	6	2	1	3	6	0	0			C3L-00144_TP	C3L-00144_NB	C	C																c.43C>G	p.Pro15Ala	p.P15A	ENST00000409535	2/22	133	122	11	100	100	0	strelka-varscan-mutect	RAD54L2,missense_variant,p.Pro15Ala,ENST00000409535,NM_001322253.1,NM_001322256.1,NM_015106.2;RAD54L2,non_coding_transcript_exon_variant,,ENST00000487093,;	G	ENST00000409535	Transcript	missense_variant	168/9776	43/4404	15/1467	P/A	Ccg/Gcg	COSM4494810	1		1	RAD54L2	HGNC	HGNC:29123	protein_coding	YES	CCDS33765.2	ENSP00000386520	Q9Y4B4		UPI000022C0AA	NM_001322253.1,NM_001322256.1,NM_015106.2	deleterious_low_confidence(0.03)		2/22		Low_complexity_(Seg):seg											1						MODERATE	1	SNV	5		1	1										PASS		.	.												G	3	3	12	51590463	51590463	C	G	1	0	0	0	0	1	0	0	0	13155	623	22	4		4	RAD54L2	3	51590463	Missense_Mutation	SNP	C	C3L-00144_TP	198620	51590463	146705096	377	4656											
PCBP4	0	.	GRCh38	chr3	51961229	51961229	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctccagtcccccgtcCgagccgctcattctgtcagg	4	10	8	19	3	3	0	2	0	1	0	8	1	8	0	7	1	1	1	7	1	0	1	rs143679967		C3L-00144_TP	C3L-00144_NB	C	C																c.12G>T	p.=	p.S4S	ENST00000461554	3/14	141	110	31	135	135	0	strelka-varscan-mutect	PCBP4,synonymous_variant,p.=,ENST00000461554,NM_001174100.1;PCBP4,synonymous_variant,p.=,ENST00000355852,NM_033008.2;PCBP4,synonymous_variant,p.=,ENST00000484633,NM_020418.3;PCBP4,synonymous_variant,p.=,ENST00000322099,NM_033010.2;PCBP4,synonymous_variant,p.=,ENST00000428823,;PCBP4,synonymous_variant,p.=,ENST00000471622,;PCBP4,synonymous_variant,p.=,ENST00000395014,;PCBP4,synonymous_variant,p.=,ENST00000466412,;PCBP4,synonymous_variant,p.=,ENST00000468324,;PCBP4,synonymous_variant,p.=,ENST00000483411,;PCBP4,synonymous_variant,p.=,ENST00000461544,;PCBP4,synonymous_variant,p.=,ENST00000497653,;PCBP4,synonymous_variant,p.=,ENST00000489595,;PCBP4,synonymous_variant,p.=,ENST00000490063,;GPR62,downstream_gene_variant,,ENST00000322241,NM_080865.3;RP11-155D18.12,non_coding_transcript_exon_variant,,ENST00000488257,;PCBP4,synonymous_variant,p.=,ENST00000471308,;PCBP4,non_coding_transcript_exon_variant,,ENST00000492809,;PCBP4,non_coding_transcript_exon_variant,,ENST00000498822,;PCBP4,non_coding_transcript_exon_variant,,ENST00000497390,;PCBP4,non_coding_transcript_exon_variant,,ENST00000471358,;	A	ENST00000461554	Transcript	synonymous_variant	344/2147	12/1212	4/403	S	tcG/tcT	rs143679967	1		-1	PCBP4	HGNC	HGNC:8652	protein_coding	YES	CCDS2839.1	ENSP00000417196	P57723	A0A024R320	UPI00001313CB	NM_001174100.1			3/14		hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF166																	LOW	1	SNV	1			1										PASS		rs143679967	.												A	2	1	12	51961229	51961229	C	A	1	0	0	0	0	0	0	0	1	11590	639	23	1		1	PCBP4	3	51961229	Silent	SNP	C	C3L-00144_TP	370766	51961229	146334330	378	4657											
NISCH	0	.	GRCh38	chr3	52488533	52488533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgaagactgtggtcatcgCcaagacccccgggacgggag	9	5	14	13	3	1	3	1	1	0	2	2	5	1	5	4	3	0	0	4	3	2	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3041C>T	p.Ala1014Val	p.A1014V	ENST00000345716	16/21	138	103	35	139	139	0	strelka-varscan-mutect	NISCH,missense_variant,p.Ala1014Val,ENST00000345716,NM_007184.3;NISCH,missense_variant,p.Ala1014Val,ENST00000479054,;NISCH,downstream_gene_variant,,ENST00000488243,;NISCH,non_coding_transcript_exon_variant,,ENST00000489895,;NISCH,upstream_gene_variant,,ENST00000467594,;NISCH,downstream_gene_variant,,ENST00000460759,;NISCH,downstream_gene_variant,,ENST00000485765,;	T	ENST00000345716	Transcript	missense_variant	3175/5238	3041/4515	1014/1504	A/V	gCc/gTc		1		1	NISCH	HGNC	HGNC:18006	protein_coding	YES	CCDS33767.1	ENSP00000339958	Q9Y2I1		UPI000036715D	NM_007184.3	tolerated(0.51)		16/21																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	52488533	52488533	C	T	1	0	0	0	0	1	0	0	0	10467	739	26	3		3	NISCH	3	52488533	Missense_Mutation	SNP	C	C3L-00144_TP	527304	52488533	145807026	379	4658											
ITIH1	0	.	GRCh38	chr3	52789651	52789651	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccctcttgctccattgcAggcttctcagtgaatggaca	8	12	9	12	0	2	1	1	1	2	0	4	2	3	2	2	2	3	3	2	2	1	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2120-2A>T		p.X707_splice	ENST00000273283		106	92	14	117	117	0	strelka-varscan-mutect	ITIH1,splice_acceptor_variant,,ENST00000273283,NM_002215.3,NM_001166434.2;ITIH1,splice_acceptor_variant,,ENST00000537050,NM_001166435.2,NM_001166436.2;ITIH1,splice_acceptor_variant,,ENST00000428133,;ITIH1,splice_acceptor_variant,,ENST00000405128,;ITIH1,splice_acceptor_variant,,ENST00000628722,;ITIH1,splice_acceptor_variant,,ENST00000482836,;ITIH1,splice_acceptor_variant,,ENST00000484844,;ITIH1,upstream_gene_variant,,ENST00000494705,;	T	ENST00000273283	Transcript	splice_acceptor_variant	-/2911	2120/2736	707/911				1		1	ITIH1	HGNC	HGNC:6166	protein_coding	YES	CCDS2864.1	ENSP00000273283	P19827		UPI000012DA1C	NM_002215.3,NM_001166434.2				18/21																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	12	52789651	52789651	A	T	1	0	0	0	0	0	0	1	0	7809	202	7	4		4	ITIH1	3	52789651	Splice_Site	SNP	A	C3L-00144_TP	301118	52789651	145505908	380	4659											
ERC2	0	.	GRCh38	chr3	56296315	56296315	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgcctaaagttctcctCggtcagctcgatggtgaagt	8	10	12	11	3	2	1	1	1	1	0	5	3	2	1	3	2	2	2	3	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.778G>T	p.Glu260Ter	p.E260*	ENST00000288221	3/18	275	219	56	250	250	0	strelka-varscan-mutect	ERC2,stop_gained,p.Glu260Ter,ENST00000288221,NM_015576.1;ERC2,stop_gained,p.Glu260Ter,ENST00000612797,;ERC2,stop_gained,p.Glu260Ter,ENST00000460849,;	A	ENST00000288221	Transcript	stop_gained	1034/6138	778/2874	260/957	E/*	Gag/Tag		1		-1	ERC2	HGNC	HGNC:31922	protein_coding	YES	CCDS46851.1	ENSP00000288221	O15083		UPI00001C1572	NM_015576.1			3/18		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10174,hmmpanther:PTHR18861																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	56296315	56296315	C	A	1	0	0	0	0	0	1	0	0	5060	893	31	1		1	ERC2	3	56296315	Nonsense_Mutation	SNP	C	C3L-00144_TP	3506664	56296315	141999244	381	4660											
FLNB	0	.	GRCh38	chr3	58134743	58134743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caattgatgcccgagatgccGgggaaggcctgcttgctgtt	7	10	14	10	2	0	2	0	1	0	1	0	4	0	3	3	3	4	3	3	3	2	3	rs372932282		C3L-00144_TP	C3L-00144_NB	G	G																c.4735G>T	p.Gly1579Trp	p.G1579W	ENST00000490882	28/47	186	146	40	171	171	0	strelka-varscan-mutect	FLNB,missense_variant,p.Gly1548Trp,ENST00000295956,NM_001457.3;FLNB,missense_variant,p.Gly1548Trp,ENST00000429972,NM_001164318.1;FLNB,missense_variant,p.Gly1548Trp,ENST00000358537,NM_001164319.1;FLNB,missense_variant,p.Gly1579Trp,ENST00000490882,NM_001164317.1;FLNB,missense_variant,p.Gly1379Trp,ENST00000493452,;FLNB,non_coding_transcript_exon_variant,,ENST00000481470,;	T	ENST00000490882	Transcript	missense_variant	4900/8079	4735/7902	1579/2633	G/W	Ggg/Tgg	rs372932282	1		1	FLNB	HGNC	HGNC:3755	protein_coding	YES	CCDS54599.1	ENSP00000420213	O75369		UPI0001765F91	NM_001164317.1	deleterious(0)		28/47		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF238,SMART_domains:SM00557,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		rs372932282	.												T	3	4	12	58134743	58134743	G	T	1	0	0	0	0	1	0	0	0	5790	1116	39	1		1	FLNB	3	58134743	Missense_Mutation	SNP	G	C3L-00144_TP	1838428	58134743	140160816	382	4661											
FEZF2	0	.	GRCh38	chr3	62372191	62372191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatagggagccgggtggggGaacttgtccgcagccaggcc	7	5	19	10	2	0	0	0	0	0	0	1	3	1	3	4	6	3	1	4	6	2	2	rs759549742		C3L-00144_TP	C3L-00144_NB	G	G																c.678C>A	p.Phe226Leu	p.F226L	ENST00000283268	2/5	106	87	19	85	84	1	strelka-varscan-mutect	FEZF2,missense_variant,p.Phe226Leu,ENST00000283268,NM_018008.3;FEZF2,missense_variant,p.Phe226Leu,ENST00000486811,;FEZF2,missense_variant,p.Phe226Leu,ENST00000475839,;PTPRG-AS1,upstream_gene_variant,,ENST00000490916,;PTPRG-AS1,upstream_gene_variant,,ENST00000495542,;	T	ENST00000283268	Transcript	missense_variant	973/2074	678/1380	226/459	F/L	ttC/ttA	rs759549742,COSM302225	1		-1	FEZF2	HGNC	HGNC:13506	protein_coding	YES	CCDS2897.1	ENSP00000283268	Q8TBJ5	A0A140VKG3	UPI0000071A13	NM_018008.3	tolerated(0.49)		2/5		hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF287											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs759549742	.												T	3	4	12	62372191	62372191	G	T	1	0	0	0	0	1	0	0	0	5689	1165	41	2		2	FEZF2	3	62372191	Missense_Mutation	SNP	G	C3L-00144_TP	4237448	62372191	135923368	383	4662											
ATXN7	0	.	GRCh38	chr3	63913220	63913220	+	Frame_Shift_Del	DEL	G	G	-																															cgaagtcatggggctctgtcGggaaggtgagtccagccccc																								rs774868672		C3L-00144_TP	C3L-00144_NB	G	G																c.391delG	p.Glu131LysfsTer92	p.E131Kfs*92	ENST00000538065	3/13	155	126	29	141	141	0	sindel-varindel-pindel	ATXN7,frameshift_variant,p.Glu131LysfsTer92,ENST00000295900,NM_000333.3;ATXN7,frameshift_variant,p.Glu131LysfsTer92,ENST00000538065,NM_001177387.1;ATXN7,frameshift_variant,p.Glu131LysfsTer92,ENST00000487717,;ATXN7,downstream_gene_variant,,ENST00000474513,;SCAANT1,upstream_gene_variant,,ENST00000626439,;ATXN7,non_coding_transcript_exon_variant,,ENST00000474112,;	-	ENST00000538065	Transcript	frameshift_variant	499/6842	389/2838	130/945	R/X	cGg/cg	rs774868672	1		1	ATXN7	HGNC	HGNC:10560	protein_coding	YES	CCDS54603.1	ENSP00000439585	O15265		UPI00001B07C4	NM_001177387.1			3/13		hmmpanther:PTHR15117:SF2,hmmpanther:PTHR15117																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	12	63913220	63913220	G	-	1	0	1	0	1	0	0	0	0	1369	1130	39	0		0	ATXN7	3	63913220	Frame_Shift_Del	DEL	G	C3L-00144_TP	1541029	63913220	134382339	384	4663											
PRICKLE2	0	.	GRCh38	chr3	64146849	64146849	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttgcattagacagggcCagggattccatggagccccg	8	8	13	12	1	0	1	0	0	0	1	1	3	1	3	5	3	2	2	5	3	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1641G>T	p.=	p.L547L	ENST00000295902	7/8	214	194	20	174	174	0	strelka-varscan-mutect	PRICKLE2,synonymous_variant,p.=,ENST00000295902,NM_198859.3;PRICKLE2,synonymous_variant,p.=,ENST00000564377,;	A	ENST00000295902	Transcript	synonymous_variant	2227/8305	1641/2535	547/844	L	ctG/ctT		1		-1	PRICKLE2	HGNC	HGNC:20340	protein_coding	YES	CCDS2902.1	ENSP00000295902	Q7Z3G6	A0A024R368	UPI0000160A8B	NM_198859.3			7/8		hmmpanther:PTHR24211:SF18,hmmpanther:PTHR24211																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	64146849	64146849	C	A	1	0	0	0	0	0	0	0	1	12619	581	21	2		2	PRICKLE2	3	64146849	Silent	SNP	C	C3L-00144_TP	233629	64146849	134148710	385	4664											
KBTBD8	0	.	GRCh38	chr3	67003903	67003903	+	Frame_Shift_Del	DEL	A	A	-																															tgtctagatatagtcacaggAagggtgtttaaactatgcaa																								novel		C3L-00144_TP	C3L-00144_NB	A	A																c.937delA	p.Arg313GlyfsTer12	p.R313Gfs*12	ENST00000417314	3/4	205	184	21	176	176	0	sindel-varindel-pindel	KBTBD8,frameshift_variant,p.Arg313GlyfsTer12,ENST00000417314,NM_032505.2;KBTBD8,intron_variant,,ENST00000460576,;KBTBD8,downstream_gene_variant,,ENST00000484414,;KBTBD8,downstream_gene_variant,,ENST00000460784,;KBTBD8,downstream_gene_variant,,ENST00000469661,;	-	ENST00000417314	Transcript	frameshift_variant	985/4680	936/1806	312/601	G/X	ggA/gg		1		1	KBTBD8	HGNC	HGNC:30691	protein_coding	YES	CCDS2906.2	ENSP00000401878	Q8NFY9		UPI0000209974	NM_032505.2			3/4		Superfamily_domains:0052715,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF24																	HIGH	1	deletion	2	1		1										PASS		.	.												-	7	5	12	67003903	67003903	A	-	1	0	1	0	1	0	0	0	0	7915	233	9	0		0	KBTBD8	3	67003903	Frame_Shift_Del	DEL	A	C3L-00144_TP	2857054	67003903	131291656	386	4665											
FAM19A4	0	.	GRCh38	chr3	68880741	68880741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcttacctgcatgtcccCggaggtgctggcttgaggcg	5	9	16	11	2	0	1	0	1	0	0	1	2	1	2	3	5	3	4	3	5	1	2	rs751781952		C3L-00144_TP	C3L-00144_NB	C	C																c.119G>T	p.Arg40Leu	p.R40L	ENST00000295569	3/6	143	123	20	116	116	0	strelka-varscan-mutect	FAM19A4,missense_variant,p.Arg40Leu,ENST00000295569,NM_001005527.2,NM_182522.4;FAM19A4,missense_variant,p.Arg40Leu,ENST00000634242,;FAM19A4,missense_variant,p.Arg40Leu,ENST00000495737,;RNA5SP135,upstream_gene_variant,,ENST00000517019,;	A	ENST00000295569	Transcript	missense_variant	612/2292	119/423	40/140	R/L	cGg/cTg	rs751781952	1		-1	FAM19A4	HGNC	HGNC:21591	protein_coding	YES	CCDS2907.1	ENSP00000295569	Q96LR4	A0A024R369	UPI0000071129	NM_001005527.2,NM_182522.4	tolerated(0.16)		3/6		hmmpanther:PTHR31770,hmmpanther:PTHR31770:SF7																	MODERATE	1	SNV	1			1										PASS		rs751781952	.												A	3	1	12	68880741	68880741	C	A	1	0	0	0	0	1	0	0	0	5381	652	23	1		1	FAM19A4	3	68880741	Missense_Mutation	SNP	C	C3L-00144_TP	1876838	68880741	129414818	387	4666											
FRMD4B	0	.	GRCh38	chr3	69181285	69181285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtcattctcatagacataaCcaccactgtaataaaagtca	16	11	4	10	0	3	1	3	0	1	1	4	1	3	1	2	0	1	1	2	0	5	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2465G>T	p.Gly822Val	p.G822V	ENST00000398540	21/23	341	312	29	268	268	0	strelka-varscan-mutect	FRMD4B,missense_variant,p.Gly822Val,ENST00000398540,NM_015123.2;FRMD4B,missense_variant,p.Gly474Val,ENST00000478263,;	A	ENST00000398540	Transcript	missense_variant	2549/5060	2465/3105	822/1034	G/V	gGt/gTt		1		-1	FRMD4B	HGNC	HGNC:24886	protein_coding	YES	CCDS46863.1	ENSP00000381549	Q9Y2L6		UPI00001C1DF1	NM_015123.2	tolerated(0.35)		21/23		hmmpanther:PTHR23281:SF16,hmmpanther:PTHR23281																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	69181285	69181285	C	A	1	0	0	0	0	1	0	0	0	5922	507	18	2		2	FRMD4B	3	69181285	Missense_Mutation	SNP	C	C3L-00144_TP	300544	69181285	129114274	388	4667											
PDZRN3	0	.	GRCh38	chr3	73383659	73383659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgctccagtagcgcccCatcttcatctcgctcaccgc	5	11	6	19	3	4	0	2	0	2	0	7	0	6	0	5	0	2	3	5	0	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2907G>A	p.Met969Ile	p.M969I	ENST00000263666	10/10	466	418	48	436	436	0	strelka-varscan-mutect	PDZRN3,missense_variant,p.Met969Ile,ENST00000263666,NM_015009.2;PDZRN3,missense_variant,p.Met626Ile,ENST00000462146,NM_001303141.1;PDZRN3,missense_variant,p.Met686Ile,ENST00000479530,NM_001303142.1;PDZRN3,missense_variant,p.Met626Ile,ENST00000466780,NM_001303140.1;PDZRN3,missense_variant,p.Met285Ile,ENST00000494559,;PDZRN3,downstream_gene_variant,,ENST00000492909,NM_001303139.1;PDZRN3,downstream_gene_variant,,ENST00000466348,;PDZRN3,downstream_gene_variant,,ENST00000478209,;PDZRN3,downstream_gene_variant,,ENST00000484487,;	T	ENST00000263666	Transcript	missense_variant	3022/4248	2907/3201	969/1066	M/I	atG/atA		1		-1	PDZRN3	HGNC	HGNC:17704	protein_coding	YES	CCDS33789.1	ENSP00000263666	Q9UPQ7		UPI00001C1DE6	NM_015009.2	deleterious(0)		10/10		hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	73383659	73383659	C	T	1	0	0	0	0	1	0	0	0	11797	594	21	3		3	PDZRN3	3	73383659	Missense_Mutation	SNP	C	C3L-00144_TP	4202374	73383659	124911900	389	4668											
CADM2	0	.	GRCh38	chr3	85935791	85935791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcagttaagattatacCatcgactccttttccacaag	13	12	4	12	1	1	1	1	0	0	1	4	2	3	1	4	0	1	1	4	0	4	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.704C>A	p.Pro235Gln	p.P235Q	ENST00000405615	6/10	155	118	37	124	124	0	strelka-varscan-mutect	CADM2,missense_variant,p.Pro242Gln,ENST00000383699,NM_001256504.1,NM_001256505.1,NM_001167675.1;CADM2,missense_variant,p.Pro233Gln,ENST00000407528,NM_001167674.1;CADM2,missense_variant,p.Pro235Gln,ENST00000405615,NM_153184.3;	A	ENST00000405615	Transcript	missense_variant	704/1314	704/1314	235/437	P/Q	cCa/cAa		1		1	CADM2	HGNC	HGNC:29849	protein_coding	YES	CCDS33792.1	ENSP00000384193	Q8N3J6		UPI000013F077	NM_153184.3	tolerated(0.09)		6/10		PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	85935791	85935791	C	A	1	0	0	0	0	1	0	0	0	2257	594	21	2		2	CADM2	3	85935791	Missense_Mutation	SNP	C	C3L-00144_TP	12552132	85935791	112359768	390	4669											
C3orf38	0	.	GRCh38	chr3	88156163	88156163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggggaccacagcacttctGgcatgatgtgaagcttaggt	10	10	13	8	0	1	2	0	2	1	0	1	3	1	3	1	4	2	3	1	4	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.518G>T	p.Trp173Leu	p.W173L	ENST00000318887	3/3	74	69	5	54	54	0	strelka-mutect	C3orf38,missense_variant,p.Trp173Leu,ENST00000318887,NM_173824.3;C3orf38,missense_variant,p.Gly138Cys,ENST00000486971,;C3orf38,downstream_gene_variant,,ENST00000464919,;C3orf38,upstream_gene_variant,,ENST00000485219,;	T	ENST00000318887	Transcript	missense_variant	828/2633	518/990	173/329	W/L	tGg/tTg		1		1	C3orf38	HGNC	HGNC:28384	protein_coding	YES	CCDS2921.2	ENSP00000322469	Q5JPI3		UPI000004D308	NM_173824.3	deleterious(0)		3/3		hmmpanther:PTHR21084,Pfam_domain:PF15008,Superfamily_domains:SSF54427																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	88156163	88156163	G	T	1	0	0	0	0	1	0	0	0	2066	1357	47	2		2	C3orf38	3	88156163	Missense_Mutation	SNP	G	C3L-00144_TP	2220372	88156163	110139396	391	4670											
EPHA3	0	.	GRCh38	chr3	89210097	89210097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatggagtctgatgatgatCatggggtgaaatttcgagag	12	11	14	4	1	2	5	1	4	1	1	3	7	2	6	0	3	0	0	0	3	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.391C>G	p.His131Asp	p.H131D	ENST00000336596	3/17	242	198	44	207	207	0	strelka-varscan-mutect	EPHA3,missense_variant,p.His131Asp,ENST00000336596,NM_005233.5;EPHA3,missense_variant,p.His131Asp,ENST00000494014,;EPHA3,missense_variant,p.His131Asp,ENST00000452448,NM_182644.2;	G	ENST00000336596	Transcript	missense_variant	616/5809	391/2952	131/983	H/D	Cat/Gat		1		1	EPHA3	HGNC	HGNC:3387	protein_coding	YES	CCDS2922.1	ENSP00000337451	P29320	A0A140VJJ0	UPI0000163BE4	NM_005233.5	tolerated(0.63)		3/17		PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666,Pfam_domain:PF01404,Gene3D:2.60.120.260,SMART_domains:SM00615,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		rs1370363055	.												G	3	3	12	89210097	89210097	C	G	1	0	0	0	0	1	0	0	0	5015	826	29	4		4	EPHA3	3	89210097	Missense_Mutation	SNP	C	C3L-00144_TP	1053934	89210097	109085462	392	4671											
EPHA6	0	.	GRCh38	chr3	97244207	97244207	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgaattacacctttgaaaTagaagcaatgaatggagttt	15	12	9	5	1	0	4	0	3	0	1	0	5	0	5	1	1	2	2	1	1	7	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1526T>A	p.Ile509Lys	p.I509K	ENST00000389672	5/18	311	263	48	209	209	0	strelka-varscan-mutect	EPHA6,missense_variant,p.Ile509Lys,ENST00000389672,NM_001080448.2;EPHA6,missense_variant,p.Ile509Lys,ENST00000470610,;	A	ENST00000389672	Transcript	missense_variant	1564/3971	1526/3393	509/1130	I/K	aTa/aAa		1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2	deleterious(0)		5/18		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	97244207	97244207	T	A	1	0	0	0	0	1	0	0	0	5018	1406	49	4		4	EPHA6	3	97244207	Missense_Mutation	SNP	T	C3L-00144_TP	8034110	97244207	101051352	393	4672											
EPHA6	0	.	GRCh38	chr3	97637996	97637996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagcggctcggaatatactgGtcaatagcaacttagtatgc	12	11	10	8	2	1	0	1	0	0	0	2	1	1	1	0	3	5	3	0	3	9	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2698G>T	p.Val900Phe	p.V900F	ENST00000389672	14/18	250	190	60	172	172	0	strelka-varscan-mutect	EPHA6,missense_variant,p.Val900Phe,ENST00000389672,NM_001080448.2;EPHA6,missense_variant,p.Val292Phe,ENST00000514100,NM_001278300.1;EPHA6,missense_variant,p.Val292Phe,ENST00000502694,NM_173655.3;EPHA6,missense_variant,p.Val224Phe,ENST00000477384,;EPHA6,3_prime_UTR_variant,,ENST00000508345,;	T	ENST00000389672	Transcript	missense_variant	2736/3971	2698/3393	900/1130	V/F	Gtc/Ttc		1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2	deleterious(0.01)		14/18		Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_patterns:PS00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	97637996	97637996	G	T	1	0	0	0	0	1	0	0	0	5018	1261	44	2		2	EPHA6	3	97637996	Missense_Mutation	SNP	G	C3L-00144_TP	393789	97637996	100657563	394	4673											
OR5H1	0	.	GRCh38	chr3	98133026	98133026	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcaatcagtgtaaccaCggaatgttttctcttggcaa	10	14	9	8	1	2	0	1	0	1	0	3	1	2	1	1	2	2	5	1	2	4	5	rs145926344		C3L-00144_TP	C3L-00144_NB	C	C																c.329C>A	p.Thr110Lys	p.T110K	ENST00000354565	1/1	380	315	65	295	293	2	strelka-varscan-mutect	OR5H1,missense_variant,p.Thr110Lys,ENST00000354565,NM_001005338.1;RP11-343D2.11,intron_variant,,ENST00000508964,;	A	ENST00000354565	Transcript	missense_variant	329/942	329/942	110/313	T/K	aCg/aAg	rs145926344,COSM2950045	1		1	OR5H1	HGNC	HGNC:8346	protein_coding	YES	CCDS33797.1	ENSP00000346575	A6NKK0	A0A126GW79	UPI0000197652	NM_001005338.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						MODERATE		SNV			0,1	1										PASS		rs145926344	.												A	3	1	12	98133026	98133026	C	A	1	0	0	0	0	1	0	0	0	11229	536	19	1		1	OR5H1	3	98133026	Missense_Mutation	SNP	C	C3L-00144_TP	495030	98133026	100162533	395	4674											
OR5H1	0	.	GRCh38	chr3	98133425	98133425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccttttccacctgtggagCccatctcttctctgtctctt	4	16	6	15	0	3	0	0	0	3	0	7	1	4	1	4	1	2	0	4	1	0	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.728C>A	p.Ala243Asp	p.A243D	ENST00000354565	1/1	443	330	113	282	281	1	strelka-varscan-mutect	OR5H1,missense_variant,p.Ala243Asp,ENST00000354565,NM_001005338.1;RP11-343D2.11,intron_variant,,ENST00000508964,;	A	ENST00000354565	Transcript	missense_variant	728/942	728/942	243/313	A/D	gCc/gAc		1		1	OR5H1	HGNC	HGNC:8346	protein_coding	YES	CCDS33797.1	ENSP00000346575	A6NKK0	A0A126GW79	UPI0000197652	NM_001005338.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												A	3	1	12	98133425	98133425	C	A	1	0	0	0	0	1	0	0	0	11229	739	26	2		2	OR5H1	3	98133425	Missense_Mutation	SNP	C	C3L-00144_TP	399	98133425	100162134	396	4675											
FILIP1L	0	.	GRCh38	chr3	99850262	99850262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgactttcaatggcttctaGctctttgatccttactttta	7	18	5	11	1	3	1	1	1	2	0	4	2	4	1	2	1	2	2	2	1	4	7	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1414C>A	p.Leu472Ile	p.L472I	ENST00000354552	5/6	249	232	17	171	171	0	strelka-varscan-mutect	FILIP1L,missense_variant,p.Leu472Ile,ENST00000331335,NM_001042459.2;FILIP1L,missense_variant,p.Leu472Ile,ENST00000354552,NM_182909.3;FILIP1L,missense_variant,p.Leu232Ile,ENST00000383694,NM_014890.3;FILIP1L,missense_variant,p.Leu232Ile,ENST00000495625,;FILIP1L,missense_variant,p.Leu232Ile,ENST00000471562,NM_001282794.1;FILIP1L,missense_variant,p.Leu48Ile,ENST00000487087,NM_001282793.1;CMSS1,intron_variant,,ENST00000421999,NM_032359.3;CMSS1,intron_variant,,ENST00000463526,;FILIP1L,upstream_gene_variant,,ENST00000477258,;CMSS1,intron_variant,,ENST00000496116,;FILIP1L,intron_variant,,ENST00000476723,;CMSS1,intron_variant,,ENST00000491299,;	T	ENST00000354552	Transcript	missense_variant	1885/3970	1414/3408	472/1135	L/I	Cta/Ata		1		-1	FILIP1L	HGNC	HGNC:24589	protein_coding	YES	CCDS43117.1	ENSP00000346560	Q4L180		UPI00001B24B2	NM_182909.3	deleterious(0.03)		5/6		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF4																	MODERATE	1	SNV	1			1										PASS		rs1255987357	.												T	3	4	12	99850262	99850262	G	T	1	0	0	0	0	1	0	0	0	5758	962	34	2		2	FILIP1L	3	99850262	Missense_Mutation	SNP	G	C3L-00144_TP	1716837	99850262	98445297	397	4676											
MORC1	0	.	GRCh38	chr3	109069681	109069681	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagttttaactctcttggCttgaatgaatattctcatcc	9	19	5	8	0	2	2	1	2	2	0	5	2	3	2	1	1	1	2	1	1	5	8	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.766G>T	p.Ala256Ser	p.A256S	ENST00000232603	9/28	175	140	35	142	142	0	strelka-varscan-mutect	MORC1,missense_variant,p.Ala256Ser,ENST00000232603,NM_014429.3;MORC1,missense_variant,p.Ala256Ser,ENST00000483760,;	A	ENST00000232603	Transcript	missense_variant	849/3764	766/2955	256/984	A/S	Gcc/Tcc		1		-1	MORC1	HGNC	HGNC:7198	protein_coding	YES	CCDS2955.1	ENSP00000232603	Q86VD1		UPI000013C964	NM_014429.3	tolerated(0.14)		9/28		hmmpanther:PTHR23337:SF6,hmmpanther:PTHR23337,Superfamily_domains:SSF55874																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	109069681	109069681	C	A	1	0	0	0	0	1	0	0	0	9665	797	28	2		2	MORC1	3	109069681	Missense_Mutation	SNP	C	C3L-00144_TP	9219419	109069681	89225878	398	4677											
DPPA2	0	.	GRCh38	chr3	109304595	109304595	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggcacccaggcctgacctGcatgaaactgcaggcgtacc	10	6	11	14	1	0	2	0	2	0	0	0	2	0	2	4	3	4	4	4	3	3	2			C3L-00144_TP	C3L-00144_NB	G	G																c.734C>G	p.Ala245Gly	p.A245G	ENST00000478945	7/9	143	110	33	118	118	0	strelka-varscan-mutect	DPPA2,missense_variant,p.Ala245Gly,ENST00000478945,NM_138815.3;	C	ENST00000478945	Transcript	missense_variant	981/1383	734/897	245/298	A/G	gCa/gGa	COSM4773631	1		-1	DPPA2	HGNC	HGNC:19197	protein_coding	YES	CCDS2956.1	ENSP00000417710	Q7Z7J5		UPI000007143F	NM_138815.3	tolerated(0.08)		7/9		Pfam_domain:PF14047,hmmpanther:PTHR16073,hmmpanther:PTHR16073:SF10											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	12	109304595	109304595	G	C	1	0	0	0	0	1	0	0	0	4549	1319	46	4		4	DPPA2	3	109304595	Missense_Mutation	SNP	G	C3L-00144_TP	234914	109304595	88990964	399	4678											
SLC9C1	0	.	GRCh38	chr3	112278806	112278806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactactggtgtaaatatacGaaaaaataagtctggactca	18	10	7	6	1	2	0	1	0	1	0	2	2	2	1	0	2	3	1	0	2	10	5	rs749177716		C3L-00144_TP	C3L-00144_NB	G	G																c.241C>A	p.Arg81Ser	p.R81S	ENST00000305815	4/29	274	200	74	231	230	1	strelka-varscan-mutect	SLC9C1,missense_variant,p.Arg81Ser,ENST00000305815,NM_183061.1;SLC9C1,missense_variant,p.Arg81Ser,ENST00000487372,NM_001320531.1;SLC9C1,missense_variant,p.Arg8Ser,ENST00000486574,;SLC9C1,non_coding_transcript_exon_variant,,ENST00000467397,;SLC9C1,missense_variant,p.Arg81Ser,ENST00000471295,;	T	ENST00000305815	Transcript	missense_variant	494/4172	241/3534	81/1177	R/S	Cgt/Agt	rs749177716,COSM3408137	1		-1	SLC9C1	HGNC	HGNC:31401	protein_coding	YES	CCDS33817.1	ENSP00000306627	Q4G0N8		UPI00002372C5	NM_183061.1	tolerated(0.47)		4/29		Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87,Pfam_domain:PF00999											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs749177716	.												T	3	4	12	112278806	112278806	G	T	1	0	0	0	0	1	0	0	0	15006	1058	37	1		1	SLC9C1	3	112278806	Missense_Mutation	SNP	G	C3L-00144_TP	2974211	112278806	86016753	400	4679											
BTLA	0	.	GRCh38	chr3	112479758	112479758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatataaagctgtacatcacAtgattctttccctaaaagat	15	14	4	8	0	2	2	1	1	1	1	3	2	3	2	1	0	2	2	1	0	7	7	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.100T>C	p.Cys34Arg	p.C34R	ENST00000334529	2/5	58	52	6	51	51	0	strelka-varscan-mutect	BTLA,missense_variant,p.Cys34Arg,ENST00000334529,NM_181780.3;BTLA,missense_variant,p.Cys34Arg,ENST00000383680,NM_001085357.1;	G	ENST00000334529	Transcript	missense_variant	303/3213	100/870	34/289	C/R	Tgt/Cgt		1		-1	BTLA	HGNC	HGNC:21087	protein_coding	YES	CCDS33819.1	ENSP00000333919	Q7Z6A9		UPI0000209F49	NM_181780.3	deleterious(0)		2/5		PROSITE_profiles:PS50835,hmmpanther:PTHR37996,hmmpanther:PTHR37996:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	112479758	112479758	A	G	1	0	0	0	0	1	0	0	0	1734	217	8	5		5	BTLA	3	112479758	Missense_Mutation	SNP	A	C3L-00144_TP	200952	112479758	85815801	401	4680											
DRD3	0	.	GRCh38	chr3	114131388	114131388	+	Missense_Mutation	SNP	C	C	A																															cagctccagatgtgccgggtCaggagagagggtctgcaggt																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.736G>T	p.Asp246Tyr	p.D246Y	ENST00000383673	6/7	124	100	24	107	107	0	strelka-varscan-mutect	DRD3,missense_variant,p.Asp246Tyr,ENST00000383673,NM_000796.5;DRD3,missense_variant,p.Asp246Tyr,ENST00000460779,NM_001282563.2;DRD3,missense_variant,p.Asp246Tyr,ENST00000467632,NM_001290809.1;DRD3,missense_variant,p.Asp246Tyr,ENST00000295881,NM_033663.5;	A	ENST00000383673	Transcript	missense_variant	1167/1640	736/1203	246/400	D/Y	Gac/Tac		1		-1	DRD3	HGNC	HGNC:3024	protein_coding	YES	CCDS2978.1	ENSP00000373169	P35462	X5D2G4	UPI000013E2C2	NM_000796.5	deleterious(0.03)		6/7		PROSITE_profiles:PS50262,Pfam_domain:PF00001,SMART_domains:SM01381																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	114131388	114131388	C	A	1	0	0	0	0	1	0	0	0	4577	826	29	2		2	DRD3	3	114131388	Missense_Mutation	SNP	C	C3L-00144_TP	1651630	114131388	84164171	402	4681	106	2									
DRD3	0	.	GRCh38	chr3	114131389	114131389	+	Silent	SNP	A	A	G																															agctccagatgtgccgggtcAggagagagggtctgcaggtg																								novel		C3L-00144_TP	C3L-00144_NB	A	A																c.735T>C	p.=	p.P245P	ENST00000383673	6/7	125	101	24	106	106	0	strelka-varscan-mutect	DRD3,synonymous_variant,p.=,ENST00000383673,NM_000796.5;DRD3,synonymous_variant,p.=,ENST00000460779,NM_001282563.2;DRD3,synonymous_variant,p.=,ENST00000467632,NM_001290809.1;DRD3,synonymous_variant,p.=,ENST00000295881,NM_033663.5;	G	ENST00000383673	Transcript	synonymous_variant	1166/1640	735/1203	245/400	P	ccT/ccC		1		-1	DRD3	HGNC	HGNC:3024	protein_coding	YES	CCDS2978.1	ENSP00000373169	P35462	X5D2G4	UPI000013E2C2	NM_000796.5			6/7		PROSITE_profiles:PS50262,Pfam_domain:PF00001,SMART_domains:SM01381																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	114131389	114131389	A	G	1	0	0	0	0	0	0	0	1	4577	175	7	5		5	DRD3	3	114131389	Silent	SNP	A	C3L-00144_TP	1	114131389	84164170	403	4682	106	2									
TIGIT	0	.	GRCh38	chr3	114294074	114294074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagaagcatgcgctggtgtCtcctcctgatctgggcccag	6	9	13	13	1	2	2	0	1	2	1	4	2	3	2	3	2	2	3	3	2	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.13C>T	p.Leu5Phe	p.L5F	ENST00000486257	2/5	231	195	36	173	172	1	strelka-varscan-mutect	TIGIT,missense_variant,p.Leu72Phe,ENST00000481065,;TIGIT,missense_variant,p.Leu5Phe,ENST00000486257,;TIGIT,missense_variant,p.Leu5Phe,ENST00000383671,NM_173799.3;TIGIT,intron_variant,,ENST00000461158,;TIGIT,upstream_gene_variant,,ENST00000484319,;TIGIT,non_coding_transcript_exon_variant,,ENST00000485814,;	T	ENST00000486257	Transcript	missense_variant	270/3149	13/735	5/244	L/F	Ctc/Ttc		1		1	TIGIT	HGNC	HGNC:26838	protein_coding	YES	CCDS2980.1	ENSP00000419085	Q495A1		UPI000013F7B8		tolerated(0.08)		2/5		hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF49,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	114294074	114294074	C	T	1	0	0	0	0	1	0	0	0	16340	913	32	3		3	TIGIT	3	114294074	Missense_Mutation	SNP	C	C3L-00144_TP	162685	114294074	84001485	404	4683											
ZBTB20	0	.	GRCh38	chr3	114351455	114351455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccccgcggcgtgtcctggCccgagtcctggatccccggg	2	7	15	17	5	0	0	0	0	0	0	3	2	3	1	7	4	1	0	7	4	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.623G>T	p.Gly208Val	p.G208V	ENST00000474710	4/5	276	227	49	189	189	0	strelka-varscan-mutect	ZBTB20,missense_variant,p.Gly135Val,ENST00000357258,NM_015642.5;ZBTB20,missense_variant,p.Gly135Val,ENST00000462705,NM_001164343.2;ZBTB20,missense_variant,p.Gly135Val,ENST00000393785,NM_001164346.2;ZBTB20,missense_variant,p.Gly135Val,ENST00000471418,NM_001164345.2;ZBTB20,missense_variant,p.Gly135Val,ENST00000464560,NM_001164344.2;ZBTB20,missense_variant,p.Gly135Val,ENST00000481632,NM_001164347.2;ZBTB20,missense_variant,p.Gly208Val,ENST00000474710,NM_001164342.2;ZBTB20,downstream_gene_variant,,ENST00000470311,;ZBTB20-AS1,upstream_gene_variant,,ENST00000475939,;ZBTB20-AS1,upstream_gene_variant,,ENST00000467304,;ZBTB20-AS1,upstream_gene_variant,,ENST00000496219,;ZBTB20,intron_variant,,ENST00000479879,;	A	ENST00000474710	Transcript	missense_variant	802/2757	623/2226	208/741	G/V	gGc/gTc		1		-1	ZBTB20	HGNC	HGNC:13503	protein_coding	YES	CCDS54626.1	ENSP00000419153	Q9HC78		UPI0000141957	NM_001164342.2	deleterious(0)		4/5																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	114351455	114351455	C	A	1	0	0	0	0	1	0	0	0	18097	739	26	2		2	ZBTB20	3	114351455	Missense_Mutation	SNP	C	C3L-00144_TP	57381	114351455	83944104	405	4684											
UPK1B	0	.	GRCh38	chr3	119187876	119187876	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacaacgatgacatctatggGgctgcctggatcggcatatt	10	10	12	9	2	1	1	0	1	1	0	2	4	1	2	1	4	2	2	1	4	3	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.171G>T	p.=	p.G57G	ENST00000264234	3/8	615	459	156	471	470	1	strelka-varscan-mutect	UPK1B,synonymous_variant,p.=,ENST00000264234,NM_006952.3;UPK1B,synonymous_variant,p.=,ENST00000460625,;UPK1B,synonymous_variant,p.=,ENST00000479520,;UPK1B,synonymous_variant,p.=,ENST00000494855,;UPK1B,5_prime_UTR_variant,,ENST00000497685,;RP11-484M3.5,downstream_gene_variant,,ENST00000490594,;	T	ENST00000264234	Transcript	synonymous_variant	320/2118	171/783	57/260	G	ggG/ggT		1		1	UPK1B	HGNC	HGNC:12578	protein_coding	YES	CCDS2985.1	ENSP00000264234	O75841		UPI000013D4E8	NM_006952.3			3/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR19282:SF24,hmmpanther:PTHR19282,Pfam_domain:PF00335,Prints_domain:PR00259																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	119187876	119187876	G	T	1	0	0	0	0	0	0	0	1	17534	1219	43	2		2	UPK1B	3	119187876	Silent	SNP	G	C3L-00144_TP	4836421	119187876	79107683	406	4685											
ARHGAP31	0	.	GRCh38	chr3	119415731	119415731	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaccaaagcaagatcccGgagccattaagtcctcacca	17	5	6	13	1	1	1	1	0	0	1	3	2	3	2	5	1	3	1	5	1	5	1	rs149658506		C3L-00144_TP	C3L-00144_NB	G	G																c.3802G>T	p.Gly1268Ter	p.G1268*	ENST00000264245	12/12	304	241	63	238	238	0	strelka-varscan-mutect	ARHGAP31,stop_gained,p.Gly1268Ter,ENST00000264245,NM_020754.3;	T	ENST00000264245	Transcript	stop_gained	4334/9317	3802/4335	1268/1444	G/*	Gga/Tga	rs149658506	1		1	ARHGAP31	HGNC	HGNC:29216	protein_coding	YES	CCDS43135.1	ENSP00000264245	Q2M1Z3		UPI00001C1DFD	NM_020754.3			12/12		hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729																	HIGH	1	SNV	1			1										PASS		rs149658506	.												T	4	4	12	119415731	119415731	G	T	1	0	0	0	0	0	1	0	0	1005	1117	39	1		1	ARHGAP31	3	119415731	Nonsense_Mutation	SNP	G	C3L-00144_TP	227855	119415731	78879828	407	4686											
MAATS1	0	.	GRCh38	chr3	119707549	119707549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaacacagagaagccctccGgcagctcaccacgtaagtgt	13	5	10	13	2	1	1	1	0	0	1	2	3	2	1	3	1	3	3	3	1	3	1	rs751536588,rs760911940		C3L-00144_TP	C3L-00144_NB	G	G																c.347G>T	p.Arg116Leu	p.R116L	ENST00000273390	3/18	146	106	40	112	112	0	strelka-varscan-mutect	MAATS1,missense_variant,p.Arg116Leu,ENST00000273390,NM_001320318.1,NM_001320316.1,NM_033364.3;MAATS1,missense_variant,p.Arg116Leu,ENST00000463700,;MAATS1,missense_variant,p.Arg14Leu,ENST00000498167,;MAATS1,3_prime_UTR_variant,,ENST00000482573,NM_001320318.1,NM_001320317.1;MAATS1,3_prime_UTR_variant,,ENST00000482927,;MAATS1,non_coding_transcript_exon_variant,,ENST00000483134,;MAATS1,non_coding_transcript_exon_variant,,ENST00000468630,;MAATS1,non_coding_transcript_exon_variant,,ENST00000469659,;MAATS1,intron_variant,,ENST00000475093,;MAATS1,downstream_gene_variant,,ENST00000488533,;	T	ENST00000273390	Transcript	missense_variant	424/4433	347/2304	116/767	R/L	cGg/cTg	rs751536588,rs760911940	1		1	MAATS1	HGNC	HGNC:24010	protein_coding	YES	CCDS2994.1	ENSP00000273390	Q7Z4T9		UPI00001C1DFE	NM_001320318.1,NM_001320316.1,NM_033364.3	tolerated(0.41)		3/18		hmmpanther:PTHR22455,hmmpanther:PTHR22455:SF10																	MODERATE	1	SNV	1			1										PASS		rs760911940	.												T	3	4	12	119707549	119707549	G	T	1	0	0	0	0	1	0	0	0	9055	1116	39	1		1	MAATS1	3	119707549	Missense_Mutation	SNP	G	C3L-00144_TP	291818	119707549	78588010	408	4687											
GPR156	0	.	GRCh38	chr3	120193426	120193426	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggacatcttcacaatccTagaggggatcaggaagaaag	15	7	11	8	0	3	2	2	0	1	2	4	5	4	5	1	4	0	0	1	4	4	2	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.234-2A>T		p.X78_splice	ENST00000464295		234	177	57	177	177	0	strelka-varscan-mutect	GPR156,splice_acceptor_variant,,ENST00000464295,;GPR156,splice_acceptor_variant,,ENST00000315843,NM_153002.2;GPR156,splice_acceptor_variant,,ENST00000461057,NM_001168271.1;GPR156,intron_variant,,ENST00000495912,;	A	ENST00000464295	Transcript	splice_acceptor_variant	-/4442	234/2445	78/814				1		-1	GPR156	HGNC	HGNC:20844	protein_coding	YES	CCDS2997.1	ENSP00000417261	Q8NFN8		UPI000004731C					3/9																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	12	120193426	120193426	T	A	1	0	0	0	0	0	0	1	0	6547	1536	53	4		4	GPR156	3	120193426	Splice_Site	SNP	T	C3L-00144_TP	485877	120193426	78102133	409	4688											
HGD	0	.	GRCh38	chr3	120633195	120633195	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcttgaccttgctggcCttctcaaagcagtcagcatc	8	10	9	14	0	2	1	2	1	1	0	4	1	2	1	3	1	4	4	3	1	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1140G>A	p.=	p.K380K	ENST00000283871	13/14	386	323	63	281	281	0	strelka-varscan-mutect	HGD,synonymous_variant,p.=,ENST00000283871,NM_000187.3;HGD,downstream_gene_variant,,ENST00000494453,;HGD,downstream_gene_variant,,ENST00000475447,;HGD,3_prime_UTR_variant,,ENST00000492108,;HGD,non_coding_transcript_exon_variant,,ENST00000470321,;	T	ENST00000283871	Transcript	synonymous_variant	1600/2005	1140/1338	380/445	K	aaG/aaA		1		-1	HGD	HGNC	HGNC:4892	protein_coding	YES	CCDS3000.1	ENSP00000283871	Q93099		UPI000020A025	NM_000187.3			13/14		Gene3D:2.60.120.10,Pfam_domain:PF04209,hmmpanther:PTHR11056,Superfamily_domains:SSF51182,TIGRFAM_domain:TIGR01015																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	120633195	120633195	C	T	1	0	0	0	0	0	0	0	1	6968	680	24	3		3	HGD	3	120633195	Silent	SNP	C	C3L-00144_TP	439769	120633195	77662364	410	4689											
STXBP5L	0	.	GRCh38	chr3	120909709	120909709	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acatccggcggggactgcagGggttctcagagaggaaattc	10	7	15	9	2	1	1	1	0	1	1	4	4	2	3	1	6	1	2	1	6	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.131G>C	p.Gly44Ala	p.G44A	ENST00000273666	2/28	294	246	48	282	282	0	strelka-varscan-mutect	STXBP5L,missense_variant,p.Gly44Ala,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Gly44Ala,ENST00000471454,NM_001308330.1;STXBP5L,missense_variant,p.Gly44Ala,ENST00000471262,;STXBP5L,missense_variant,p.Gly44Ala,ENST00000492541,;STXBP5L,missense_variant,p.Gly44Ala,ENST00000472879,;STXBP5L,missense_variant,p.Gly44Ala,ENST00000497029,;STXBP5L,missense_variant,p.Gly44Ala,ENST00000495504,;STXBP5L,missense_variant,p.Gly44Ala,ENST00000461772,;	C	ENST00000273666	Transcript	missense_variant	402/9496	131/3561	44/1186	G/A	gGg/gCg		1		1	STXBP5L	HGNC	HGNC:30757	protein_coding	YES	CCDS43137.1	ENSP00000273666	Q9Y2K9		UPI00001C1DEA	NM_014980.2	tolerated(0.71)		2/28		hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	120909709	120909709	G	C	1	0	0	0	0	1	0	0	0	15741	1232	43	4		4	STXBP5L	3	120909709	Missense_Mutation	SNP	G	C3L-00144_TP	276514	120909709	77385850	411	4690											
STXBP5L	0	.	GRCh38	chr3	121239071	121239071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccggatttgattctagtaCtgtattctataggagtcaag	10	15	9	7	1	3	1	1	1	2	0	4	3	4	3	1	2	1	2	1	2	6	8	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1285C>A	p.Leu429Met	p.L429M	ENST00000273666	13/28	223	189	34	160	160	0	strelka-varscan-mutect	STXBP5L,missense_variant,p.Leu429Met,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Leu429Met,ENST00000471454,NM_001308330.1;STXBP5L,missense_variant,p.Leu429Met,ENST00000471262,;STXBP5L,missense_variant,p.Leu429Met,ENST00000492541,;STXBP5L,missense_variant,p.Leu429Met,ENST00000472879,;STXBP5L,missense_variant,p.Leu429Met,ENST00000497029,;	A	ENST00000273666	Transcript	missense_variant	1556/9496	1285/3561	429/1186	L/M	Ctg/Atg		1		1	STXBP5L	HGNC	HGNC:30757	protein_coding	YES	CCDS43137.1	ENSP00000273666	Q9Y2K9		UPI00001C1DEA	NM_014980.2	deleterious(0)		13/28		hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	121239071	121239071	C	A	1	0	0	0	0	1	0	0	0	15741	564	20	2		2	STXBP5L	3	121239071	Missense_Mutation	SNP	C	C3L-00144_TP	329362	121239071	77056488	412	4691											
STXBP5L	0	.	GRCh38	chr3	121324558	121324558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaatatcagctatgagaCagaggaatcaagtatatcac	18	9	8	6	0	3	3	3	2	0	2	3	5	3	4	0	1	1	2	0	1	7	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2314C>A	p.Gln772Lys	p.Q772K	ENST00000497029	22/24	206	180	26	135	135	0	strelka-varscan-mutect	STXBP5L,missense_variant,p.Gln772Lys,ENST00000497029,;STXBP5L,intron_variant,,ENST00000273666,NM_014980.2;STXBP5L,intron_variant,,ENST00000471454,NM_001308330.1;STXBP5L,intron_variant,,ENST00000471262,;STXBP5L,intron_variant,,ENST00000492541,;STXBP5L,intron_variant,,ENST00000472879,;	A	ENST00000497029	Transcript	missense_variant	2343/3036	2314/3003	772/1000	Q/K	Cag/Aag		1		1	STXBP5L	HGNC	HGNC:30757	protein_coding			ENSP00000420287		C9JPK3	UPI0001B797C0		tolerated(0.94)		22/24																			MODERATE		SNV	5			1										PASS		.	.												A	3	1	12	121324558	121324558	C	A	1	0	0	0	0	1	0	0	0	15741	479	17	2		2	STXBP5L	3	121324558	Missense_Mutation	SNP	C	C3L-00144_TP	85487	121324558	76971001	413	4692											
STXBP5L	0	.	GRCh38	chr3	121381509	121381509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaacaaaggtttacagAgccagtcatggtattgccaa	15	9	10	7	0	1	3	1	1	0	2	1	3	1	3	2	2	4	2	2	2	5	4	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2636A>G	p.Glu879Gly	p.E879G	ENST00000273666	23/28	221	184	37	175	175	0	strelka-varscan-mutect	STXBP5L,missense_variant,p.Glu879Gly,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Glu855Gly,ENST00000471454,NM_001308330.1;STXBP5L,missense_variant,p.Glu822Gly,ENST00000471262,;STXBP5L,missense_variant,p.Glu879Gly,ENST00000492541,;STXBP5L,missense_variant,p.Glu855Gly,ENST00000472879,;STXBP5L,missense_variant,p.Glu853Gly,ENST00000497029,;	G	ENST00000273666	Transcript	missense_variant	2907/9496	2636/3561	879/1186	E/G	gAg/gGg		1		1	STXBP5L	HGNC	HGNC:30757	protein_coding	YES	CCDS43137.1	ENSP00000273666	Q9Y2K9		UPI00001C1DEA	NM_014980.2	deleterious(0.01)		23/28		hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Pfam_domain:PF08596																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	121381509	121381509	A	G	1	0	0	0	0	1	0	0	0	15741	304	11	5		5	STXBP5L	3	121381509	Missense_Mutation	SNP	A	C3L-00144_TP	56951	121381509	76914050	414	4693											
POLQ	0	.	GRCh38	chr3	121490267	121490267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatttcaactaagtcctgCtgcagaatcattctggcttc	9	13	6	13	0	3	1	2	0	1	1	5	1	4	1	2	1	3	3	2	1	3	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2664G>T	p.Gln888His	p.Q888H	ENST00000264233	16/30	257	188	69	210	210	0	strelka-varscan-mutect	POLQ,missense_variant,p.Gln1023His,ENST00000621776,;POLQ,missense_variant,p.Gln888His,ENST00000264233,NM_199420.3;RPL7AP11,upstream_gene_variant,,ENST00000486538,;	A	ENST00000264233	Transcript	missense_variant	2793/8775	2664/7773	888/2590	Q/H	caG/caT		1		-1	POLQ	HGNC	HGNC:9186	protein_coding	YES	CCDS33833.1	ENSP00000264233	O75417		UPI0000D61B5F	NM_199420.3	deleterious(0.02)		16/30																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	121490267	121490267	C	A	1	0	0	0	0	1	0	0	0	12318	796	28	2		2	POLQ	3	121490267	Missense_Mutation	SNP	C	C3L-00144_TP	108758	121490267	76805292	415	4694											
POLQ	0	.	GRCh38	chr3	121490343	121490344	+	Frame_Shift_Ins	INS	-	-	A																															accttttctgccagtcacccINSagatagttcgcatattgcga																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.2587dupT	p.Trp863LeufsTer10	p.W863Lfs*10	ENST00000264233	16/30	289	212	77	270	270	0	sindel-varindel-pindel	POLQ,frameshift_variant,p.Trp998LeufsTer10,ENST00000621776,;POLQ,frameshift_variant,p.Trp863LeufsTer10,ENST00000264233,NM_199420.3;RPL7AP11,upstream_gene_variant,,ENST00000486538,;	A	ENST00000264233	Transcript	frameshift_variant	2716-2717/8775	2587-2588/7773	863/2590	W/LX	tgg/tTgg		1		-1	POLQ	HGNC	HGNC:9186	protein_coding	YES	CCDS33833.1	ENSP00000264233	O75417		UPI0000D61B5F	NM_199420.3			16/30																			HIGH	1	insertion	1			1										PASS		.	.												A	7	5	12	121490343	121490343	-	A	1	0	1	1	0	0	0	0	0	12318	595	21	0		0	POLQ	3	121490343	Frame_Shift_Ins	INS	-	C3L-00144_TP	76	121490343	76805216	416	4695											
MUC13	0	.	GRCh38	chr3	124913598	124913598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggttaggcctttgcaGgtcagatttgcaatcgcatg	7	13	13	8	1	1	1	1	0	0	1	2	1	1	1	1	3	2	4	1	3	2	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1048C>A	p.Leu350Met	p.L350M	ENST00000616727	7/12	416	346	70	305	305	0	strelka-varscan-mutect	MUC13,missense_variant,p.Leu350Met,ENST00000616727,NM_033049.3;MUC13,downstream_gene_variant,,ENST00000478191,;MUC13,upstream_gene_variant,,ENST00000462728,;	T	ENST00000616727	Transcript	missense_variant	1087/2879	1048/1539	350/512	L/M	Ctg/Atg		1		-1	MUC13	HGNC	HGNC:7511	protein_coding	YES		ENSP00000485028	Q9H3R2		UPI00000730EB	NM_033049.3	tolerated(0.23)		7/12		hmmpanther:PTHR24041:SF24,hmmpanther:PTHR24041,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		rs1459845526	.												T	3	4	12	124913598	124913598	G	T	1	0	0	0	0	1	0	0	0	9970	991	35	2		2	MUC13	3	124913598	Missense_Mutation	SNP	G	C3L-00144_TP	3423255	124913598	73381961	417	4696											
PLXNA1	0	.	GRCh38	chr3	126989104	126989104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaggcaggcagcatggcgGgcgtgctcattgccgggcca	7	5	18	11	3	1	0	1	0	0	0	1	1	1	1	2	6	3	4	2	6	0	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.511G>T	p.Gly171Cys	p.G171C	ENST00000393409	1/31	273	193	80	200	200	0	strelka-varscan-mutect	PLXNA1,missense_variant,p.Gly171Cys,ENST00000393409,NM_032242.3;	T	ENST00000393409	Transcript	missense_variant	511/9066	511/5691	171/1896	G/C	Ggc/Tgc		1		1	PLXNA1	HGNC	HGNC:9099	protein_coding	YES	CCDS33847.2	ENSP00000377061	Q9UIW2		UPI00001A7983	NM_032242.3	deleterious(0)		1/31		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	126989104	126989104	G	T	1	0	0	0	0	1	0	0	0	12225	1232	43	2		2	PLXNA1	3	126989104	Missense_Mutation	SNP	G	C3L-00144_TP	2075506	126989104	71306455	418	4697											
PLXNA1	0	.	GRCh38	chr3	127006150	127006150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgcgtctgtggacttcGtcttctacaactgcagcgtc	6	14	10	11	3	3	0	0	0	3	0	5	1	3	1	0	1	5	2	0	1	2	4	rs138310005		C3L-00144_TP	C3L-00144_NB	G	G																c.1969G>T	p.Val657Phe	p.V657F	ENST00000393409	7/31	359	313	46	262	262	0	strelka-varscan-mutect	PLXNA1,missense_variant,p.Val657Phe,ENST00000393409,NM_032242.3;	T	ENST00000393409	Transcript	missense_variant	1969/9066	1969/5691	657/1896	V/F	Gtc/Ttc	rs138310005,COSM1418677	1		1	PLXNA1	HGNC	HGNC:9099	protein_coding	YES	CCDS33847.2	ENSP00000377061	Q9UIW2		UPI00001A7983	NM_032242.3	deleterious(0.01)		7/31		hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs138310005	.												T	3	4	12	127006150	127006150	G	T	1	0	0	0	0	1	0	0	0	12225	1145	40	1		1	PLXNA1	3	127006150	Missense_Mutation	SNP	G	C3L-00144_TP	17046	127006150	71289409	419	4698											
COL6A5	0	.	GRCh38	chr3	130385157	130385157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttacctcattgtgttgactGatgggatgtccacagacaga	10	12	11	8	0	1	4	1	2	0	2	2	5	2	5	2	1	1	2	2	1	1	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1654G>A	p.Asp552Asn	p.D552N	ENST00000265379	5/43	451	325	126	320	320	0	strelka-varscan-mutect	COL6A5,missense_variant,p.Asp552Asn,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,missense_variant,p.Asp552Asn,ENST00000312481,;	A	ENST00000265379	Transcript	missense_variant	2148/9214	1654/7836	552/2611	D/N	Gat/Aat		1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1	tolerated(0.22)		5/43		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF133,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	130385157	130385157	G	A	1	0	0	0	0	1	0	0	0	3491	1290	45	3		3	COL6A5	3	130385157	Missense_Mutation	SNP	G	C3L-00144_TP	3379007	130385157	67910402	420	4699											
COL6A5	0	.	GRCh38	chr3	130409363	130409363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtgcccctgggcagtatgGagagaagggcttcccagggg	8	6	18	9	0	0	1	0	0	0	1	1	3	1	2	3	6	1	3	3	6	2	2			C3L-00144_TP	C3L-00144_NB	G	G																c.4517G>A	p.Gly1506Glu	p.G1506E	ENST00000265379	18/43	132	91	41	103	103	0	strelka-varscan-mutect	COL6A5,missense_variant,p.Gly1506Glu,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,missense_variant,p.Gly1506Glu,ENST00000312481,;	A	ENST00000265379	Transcript	missense_variant	5011/9214	4517/7836	1506/2611	G/E	gGa/gAa	COSM4548600,COSM4969120	1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1	deleterious(0.01)		18/43		hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF133,Pfam_domain:PF01391											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	12	130409363	130409363	G	A	1	0	0	0	0	1	0	0	0	3491	1174	41	3		3	COL6A5	3	130409363	Missense_Mutation	SNP	G	C3L-00144_TP	24206	130409363	67886196	421	4700											
COL6A5	0	.	GRCh38	chr3	130410470	130410470	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaattattatatttttaGggtagaagtggacagaaagg	16	12	12	1	0	0	2	0	0	0	2	0	4	0	4	0	4	0	1	0	4	8	7	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.4609-1G>T		p.X1537_splice	ENST00000265379		119	89	30	96	96	0	strelka-varscan-mutect	COL6A5,splice_acceptor_variant,,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,splice_acceptor_variant,,ENST00000312481,;	T	ENST00000265379	Transcript	splice_acceptor_variant	-/9214	4609/7836	1537/2611				1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1				19/42																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	12	130410470	130410470	G	T	1	0	0	0	0	0	0	1	0	3491	1014	35	2		2	COL6A5	3	130410470	Splice_Site	SNP	G	C3L-00144_TP	1107	130410470	67885089	422	4701											
COL6A5	0	.	GRCh38	chr3	130423874	130423874	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgaagagggatctcgaGgactcccaggccctcctgga	10	6	14	11	1	1	2	0	1	1	1	4	6	3	5	3	5	0	0	3	5	2	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.5137G>T	p.Gly1713Ter	p.G1713*	ENST00000265379	29/43	257	181	76	185	185	0	strelka-varscan-mutect	COL6A5,stop_gained,p.Gly1713Ter,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,stop_gained,p.Gly1713Ter,ENST00000312481,;	T	ENST00000265379	Transcript	stop_gained	5631/9214	5137/7836	1713/2611	G/*	Gga/Tga		1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1			29/43		hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF133																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	12	130423874	130423874	G	T	1	0	0	0	0	0	1	0	0	3491	1001	35	2		2	COL6A5	3	130423874	Nonsense_Mutation	SNP	G	C3L-00144_TP	13404	130423874	67871685	423	4702											
DNAJC13	0	.	GRCh38	chr3	132456662	132456662	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatactctttcttcacctaGggtctcttctcagaaaacaa	13	13	4	11	0	5	1	2	0	4	1	7	1	5	1	1	1	2	0	1	1	6	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1180-1G>T		p.X394_splice	ENST00000260818		136	102	34	123	122	1	strelka-varscan-mutect	DNAJC13,splice_acceptor_variant,,ENST00000260818,NM_015268.3;DNAJC13,splice_acceptor_variant,,ENST00000486798,;DNAJC13,splice_acceptor_variant,,ENST00000471925,;	T	ENST00000260818	Transcript	splice_acceptor_variant	-/7730	1180/6732	394/2243				1		1	DNAJC13	HGNC	HGNC:30343	protein_coding	YES	CCDS33857.1	ENSP00000260818	O75165		UPI000022C1FD	NM_015268.3				11/55																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	12	132456662	132456662	G	T	1	0	0	0	0	0	0	1	0	4446	1014	35	2		2	DNAJC13	3	132456662	Splice_Site	SNP	G	C3L-00144_TP	2032788	132456662	65838897	424	4703											
KY	0	.	GRCh38	chr3	134603584	134603584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accggggcacagccctcactGggcattcactttgtatttca	8	11	9	13	1	3	0	3	0	0	0	3	0	3	0	2	3	1	3	2	3	1	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1981C>A	p.Gln661Lys	p.Q661K	ENST00000423778	11/11	40	35	5	14	14	0	strelka-mutect	KY,missense_variant,p.Gln640Lys,ENST00000508956,;KY,missense_variant,p.Gln661Lys,ENST00000423778,NM_178554.4;KY,3_prime_UTR_variant,,ENST00000503669,;EPHB1,intron_variant,,ENST00000472904,;EPHB1,intron_variant,,ENST00000467708,;EPHB1,downstream_gene_variant,,ENST00000467013,;KY,downstream_gene_variant,,ENST00000506319,;	T	ENST00000423778	Transcript	missense_variant	2043/2345	1981/1986	661/661	Q/K	Cag/Aag		1		-1	KY	HGNC	HGNC:26576	protein_coding	YES	CCDS46920.1	ENSP00000397598	Q8NBH2		UPI0000EE2109	NM_178554.4	tolerated_low_confidence(0.12)		11/11		hmmpanther:PTHR11039																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	134603584	134603584	G	T	1	0	0	0	0	1	0	0	0	8485	1357	47	2		2	KY	3	134603584	Missense_Mutation	SNP	G	C3L-00144_TP	2146922	134603584	63691975	425	4704											
FOXL2	0	.	GRCh38	chr3	138945999	138945999	+	Frame_Shift_Del	DEL	C	C	-																															cagccccttgaccacagcggCcgcgccagggctaccggggc																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.724delG	p.Ala242ProfsTer29	p.A242Pfs*29	ENST00000330315	1/1	52	44	8	48	48	0	sindel-varindel-pindel	FOXL2,frameshift_variant,p.Ala242ProfsTer29,ENST00000330315,NM_023067.3;FOXL2NB,upstream_gene_variant,,ENST00000383165,NM_001040061.2;LINC01391,upstream_gene_variant,,ENST00000495287,;LINC01391,upstream_gene_variant,,ENST00000483650,;LINC01391,upstream_gene_variant,,ENST00000477059,;FOXL2NB,upstream_gene_variant,,ENST00000498709,;FOXL2NB,upstream_gene_variant,,ENST00000470680,;	-	ENST00000330315	Transcript	frameshift_variant	1142/2917	724/1131	242/376	A/X	Gcc/cc		1		-1	FOXL2	HGNC	HGNC:1092	protein_coding	YES	CCDS3105.1	ENSP00000333188	P58012	Q53ZD3	UPI0000050DB3	NM_023067.3			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF177,hmmpanther:PTHR11829																	HIGH		deletion				1										PASS		.	.												-	7	5	12	138945999	138945999	C	-	1	0	1	0	1	0	0	0	0	5880	739	26	0		0	FOXL2	3	138945999	Frame_Shift_Del	DEL	C	C3L-00144_TP	4342415	138945999	59349560	426	4705											
TRIM42	0	.	GRCh38	chr3	140682528	140682528	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtaaagtcaataccagcCaacagtcacctggtgaacca	16	6	8	11	0	2	1	2	1	0	0	2	2	2	1	4	1	4	1	4	1	7	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.408C>A	p.=	p.A136A	ENST00000286349	2/5	181	121	60	129	129	0	strelka-varscan-mutect	TRIM42,synonymous_variant,p.=,ENST00000286349,NM_152616.4;	A	ENST00000286349	Transcript	synonymous_variant	599/2539	408/2172	136/723	A	gcC/gcA		1		1	TRIM42	HGNC	HGNC:19014	protein_coding	YES	CCDS3113.1	ENSP00000286349	Q8IWZ5		UPI00001AEAE0	NM_152616.4			2/5		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF269																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	140682528	140682528	C	A	1	0	0	0	0	0	0	0	1	17007	581	21	2		2	TRIM42	3	140682528	Silent	SNP	C	C3L-00144_TP	1736529	140682528	57613031	427	4706											
TRIM42	0	.	GRCh38	chr3	140688321	140688321	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttcagcaacactgacAagaaggccaaggtgggtctg	11	8	12	10	0	2	2	1	1	1	1	3	2	3	2	2	3	2	1	2	3	4	1	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1639A>C	p.Lys547Gln	p.K547Q	ENST00000286349	3/5	305	223	82	228	228	0	strelka-varscan-mutect	TRIM42,missense_variant,p.Lys547Gln,ENST00000286349,NM_152616.4;	C	ENST00000286349	Transcript	missense_variant	1830/2539	1639/2172	547/723	K/Q	Aag/Cag		1		1	TRIM42	HGNC	HGNC:19014	protein_coding	YES	CCDS3113.1	ENSP00000286349	Q8IWZ5		UPI00001AEAE0	NM_152616.4	tolerated(0.55)		3/5																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	140688321	140688321	A	C	1	0	0	0	0	1	0	0	0	17007	131	5	5		5	TRIM42	3	140688321	Missense_Mutation	SNP	A	C3L-00144_TP	5793	140688321	57607238	428	4707											
PAQR9	0	.	GRCh38	chr3	142962575	142962575	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgagcataatggggcaGgccatgctgagcggcatgac	9	7	14	11	2	1	2	0	2	1	0	2	3	1	2	1	4	3	4	1	4	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.762C>A	p.=	p.A254A	ENST00000340634	1/1	224	185	39	159	159	0	strelka-varscan-mutect	PAQR9,synonymous_variant,p.=,ENST00000340634,NM_198504.2;PAQR9,upstream_gene_variant,,ENST00000492509,;U2SURP,upstream_gene_variant,,ENST00000600150,;PAQR9,upstream_gene_variant,,ENST00000498470,;PAQR9-AS1,non_coding_transcript_exon_variant,,ENST00000625937,;PAQR9-AS1,intron_variant,,ENST00000627207,;PAQR9-AS1,upstream_gene_variant,,ENST00000595248,;PAQR9-AS1,upstream_gene_variant,,ENST00000595774,;PAQR9-AS1,upstream_gene_variant,,ENST00000598139,;PAQR9-AS1,upstream_gene_variant,,ENST00000593321,;PAQR9-AS1,upstream_gene_variant,,ENST00000478823,;PAQR9-AS1,upstream_gene_variant,,ENST00000493825,;PAQR9-AS1,upstream_gene_variant,,ENST00000625677,;PAQR9-AS1,upstream_gene_variant,,ENST00000594095,;PAQR9-AS1,upstream_gene_variant,,ENST00000497652,;PAQR9-AS1,upstream_gene_variant,,ENST00000598787,;PAQR9-AS1,upstream_gene_variant,,ENST00000607937,;PAQR9-AS1,upstream_gene_variant,,ENST00000608686,;PAQR9-AS1,upstream_gene_variant,,ENST00000608349,;RP11-372E1.7,downstream_gene_variant,,ENST00000468434,;	T	ENST00000340634	Transcript	synonymous_variant	1108/2452	762/1134	254/377	A	gcC/gcA		1		-1	PAQR9	HGNC	HGNC:30131	protein_coding	YES	CCDS3128.1	ENSP00000341564	Q6ZVX9		UPI00000620A1	NM_198504.2			1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR20855:SF58,hmmpanther:PTHR20855,Pfam_domain:PF03006																	LOW		SNV				1										PASS		.	.												T	2	4	12	142962575	142962575	G	T	1	0	0	0	0	0	0	0	1	11522	987	35	2		2	PAQR9	3	142962575	Silent	SNP	G	C3L-00144_TP	2274254	142962575	55332984	429	4708											
SLC9A9	0	.	GRCh38	chr3	143652289	143652289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccactgcatcattcaacaCactctctccaaacaagagtg	13	8	6	14	0	3	1	2	0	1	1	5	1	4	1	2	1	3	1	2	1	3	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.721G>A	p.Val241Met	p.V241M	ENST00000316549	6/16	384	359	25	300	300	0	strelka-varscan-mutect	SLC9A9,missense_variant,p.Val241Met,ENST00000316549,NM_173653.3;SLC9A9,non_coding_transcript_exon_variant,,ENST00000483124,;	T	ENST00000316549	Transcript	missense_variant	930/3627	721/1938	241/645	V/M	Gtg/Atg		1		-1	SLC9A9	HGNC	HGNC:20653	protein_coding	YES	CCDS33872.1	ENSP00000320246	Q8IVB4		UPI0000074664	NM_173653.3	deleterious(0)		6/16		Pfam_domain:PF00999,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF61,TIGRFAM_domain:TIGR00840,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	143652289	143652289	C	T	1	0	0	0	0	1	0	0	0	15003	478	17	3		3	SLC9A9	3	143652289	Missense_Mutation	SNP	C	C3L-00144_TP	689714	143652289	54643270	430	4709											
P2RY13	0	.	GRCh38	chr3	151328208	151328208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacagtcagtcttattgttgGtttgactgtgagtatatgga	9	17	11	4	0	2	2	1	2	1	0	2	3	2	3	0	2	1	3	0	2	4	7	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.848C>A	p.Thr283Asn	p.T283N	ENST00000325602	2/2	191	157	34	148	147	1	strelka-varscan-mutect	P2RY13,missense_variant,p.Thr283Asn,ENST00000325602,NM_176894.2;MED12L,intron_variant,,ENST00000474524,NM_053002.5;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000491549,;MED12L,intron_variant,,ENST00000468305,;	T	ENST00000325602	Transcript	missense_variant	868/2764	848/1065	283/354	T/N	aCc/aAc		1		-1	P2RY13	HGNC	HGNC:4537	protein_coding	YES	CCDS3158.2	ENSP00000320376	Q9BPV8		UPI000020A470	NM_176894.2	deleterious(0)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF10,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	151328208	151328208	G	T	1	0	0	0	0	1	0	0	0	11423	1261	44	2		2	P2RY13	3	151328208	Missense_Mutation	SNP	G	C3L-00144_TP	7675919	151328208	46967351	431	4710											
IGSF10	0	.	GRCh38	chr3	151443808	151443808	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgcggtcctgaatttcCaccctctggatggacagggt	6	11	12	12	2	1	1	0	1	1	0	4	3	4	3	4	4	0	0	4	4	1	1	rs148647913		C3L-00144_TP	C3L-00144_NB	C	C																c.5139G>T	p.=	p.V1713V	ENST00000282466	5/6	193	140	53	106	106	0	strelka-varscan-mutect	IGSF10,synonymous_variant,p.=,ENST00000282466,NM_178822.4;IGSF10,upstream_gene_variant,,ENST00000489791,;IGSF10,upstream_gene_variant,,ENST00000495443,;IGSF10,upstream_gene_variant,,ENST00000493841,;	A	ENST00000282466	Transcript	synonymous_variant	5139/11067	5139/7872	1713/2623	V	gtG/gtT	rs148647913	1		-1	IGSF10	HGNC	HGNC:26384	protein_coding	YES	CCDS3160.1	ENSP00000282466	Q6WRI0		UPI00001D629A	NM_178822.4			5/6		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs148647913	.												A	2	1	12	151443808	151443808	C	A	1	0	0	0	0	0	0	0	1	7504	581	21	2		2	IGSF10	3	151443808	Silent	SNP	C	C3L-00144_TP	115600	151443808	46851751	432	4711											
ARHGEF26	0	.	GRCh38	chr3	154194643	154194643	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacttttatttcattacaGactatctgtcaaaaaacacc	14	15	2	10	0	4	1	3	0	1	1	4	1	4	1	1	0	2	0	1	0	6	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1771-1G>T		p.X591_splice	ENST00000356448		161	130	31	122	122	0	strelka-varscan-mutect	ARHGEF26,splice_acceptor_variant,,ENST00000356448,NM_001251962.1;ARHGEF26,splice_acceptor_variant,,ENST00000465093,NM_015595.3;ARHGEF26,splice_acceptor_variant,,ENST00000496710,NM_001251963.1;ARHGEF26,intron_variant,,ENST00000465817,;	T	ENST00000356448	Transcript	splice_acceptor_variant	-/5254	1771/2616	591/871				1		1	ARHGEF26	HGNC	HGNC:24490	protein_coding	YES	CCDS46938.1	ENSP00000348828	Q96DR7	A0A140VJU4	UPI00001410D0	NM_001251962.1				8/14																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	12	154194643	154194643	G	T	1	0	0	0	0	0	0	1	0	1035	956	33	2		2	ARHGEF26	3	154194643	Splice_Site	SNP	G	C3L-00144_TP	2750835	154194643	44100916	433	4712											
SHOX2	0	.	GRCh38	chr3	158105124	158105124	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagctttcgttggcttccTtctaccttgaaagagaatgg	8	14	9	10	1	2	2	1	1	1	1	4	3	3	2	2	2	2	3	2	2	3	6	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.352A>T	p.Arg118Trp	p.R118W	ENST00000389589	2/6	328	273	55	254	253	1	strelka-varscan-mutect	SHOX2,missense_variant,p.Arg118Trp,ENST00000389589,NM_003030.4;SHOX2,missense_variant,p.Arg15Trp,ENST00000554685,;SHOX2,intron_variant,,ENST00000441443,NM_006884.3;SHOX2,intron_variant,,ENST00000483851,NM_001163678.1;RSRC1,upstream_gene_variant,,ENST00000464171,;RSRC1,upstream_gene_variant,,ENST00000611884,NM_001271838.1;RSRC1,upstream_gene_variant,,ENST00000295930,NM_016625.3;SHOX2,upstream_gene_variant,,ENST00000425436,;RSRC1,upstream_gene_variant,,ENST00000312179,NM_001271834.1;RSRC1,upstream_gene_variant,,ENST00000480820,;RSRC1,upstream_gene_variant,,ENST00000475278,;RSRC1,upstream_gene_variant,,ENST00000471994,;RSRC1,upstream_gene_variant,,ENST00000494002,;SHOX2,non_coding_transcript_exon_variant,,ENST00000490689,;	A	ENST00000389589	Transcript	missense_variant	488/2072	352/1068	118/355	R/W	Agg/Tgg		1		-1	SHOX2	HGNC	HGNC:10854	protein_coding	YES	CCDS33884.2	ENSP00000374240	O60902		UPI0000169EC9	NM_003030.4	tolerated_low_confidence(0.18)		2/6																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	158105124	158105124	T	A	1	0	0	0	0	1	0	0	0	14552	1623	56	4		4	SHOX2	3	158105124	Missense_Mutation	SNP	T	C3L-00144_TP	3910481	158105124	40190435	434	4713											
SHOX2	0	.	GRCh38	chr3	158105685	158105685	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaggtcgttaccctccgTcagtcgcgggctgcccggct	4	9	13	15	5	2	0	2	0	0	0	5	0	3	0	3	3	2	3	3	3	1	1			C3L-00144_TP	C3L-00144_NB	T	T																c.340A>T	p.Thr114Ser	p.T114S	ENST00000389589	1/6	321	277	44	271	271	0	strelka-varscan-mutect	SHOX2,missense_variant,p.Thr114Ser,ENST00000441443,NM_006884.3;SHOX2,missense_variant,p.Thr114Ser,ENST00000389589,NM_003030.4;SHOX2,missense_variant,p.Thr114Ser,ENST00000483851,NM_001163678.1;SHOX2,missense_variant,p.Asp12Val,ENST00000554685,;RSRC1,upstream_gene_variant,,ENST00000464171,;RSRC1,upstream_gene_variant,,ENST00000611884,NM_001271838.1;RSRC1,upstream_gene_variant,,ENST00000295930,NM_016625.3;SHOX2,upstream_gene_variant,,ENST00000425436,;RSRC1,upstream_gene_variant,,ENST00000312179,NM_001271834.1;RSRC1,upstream_gene_variant,,ENST00000480820,;RSRC1,upstream_gene_variant,,ENST00000475278,;RSRC1,upstream_gene_variant,,ENST00000476899,;RSRC1,upstream_gene_variant,,ENST00000471994,;RSRC1,upstream_gene_variant,,ENST00000494002,;RSRC1,upstream_gene_variant,,ENST00000471911,;RSRC1,upstream_gene_variant,,ENST00000468344,;SHOX2,upstream_gene_variant,,ENST00000490689,;RSRC1,upstream_gene_variant,,ENST00000480119,;	A	ENST00000389589	Transcript	missense_variant	476/2072	340/1068	114/355	T/S	Acg/Tcg	COSM3660303	1		-1	SHOX2	HGNC	HGNC:10854	protein_coding	YES	CCDS33884.2	ENSP00000374240	O60902		UPI0000169EC9	NM_003030.4	tolerated_low_confidence(0.44)		1/6													1						MODERATE	1	SNV	1		1	1										PASS		rs1377607419	.												A	3	1	12	158105685	158105685	T	A	1	0	0	0	0	1	0	0	0	14552	1667	58	4		4	SHOX2	3	158105685	Missense_Mutation	SNP	T	C3L-00144_TP	561	158105685	40189874	435	4714											
SI	0	.	GRCh38	chr3	164991434	164991434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtttattgtgtcataagaaGcattaaatgtttgaaattgt	13	17	9	2	0	1	2	1	1	0	1	1	2	1	2	0	1	1	3	0	1	6	7			C3L-00144_TP	C3L-00144_NB	G	G																c.5027C>G	p.Ala1676Gly	p.A1676G	ENST00000264382	44/48	385	308	77	280	280	0	strelka-varscan-mutect	SI,missense_variant,p.Ala1676Gly,ENST00000264382,NM_001041.3;	C	ENST00000264382	Transcript	missense_variant	5090/6011	5027/5484	1676/1827	A/G	gCt/gGt	COSM1040734	1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	deleterious(0)		44/48		Pfam_domain:PF01055,Superfamily_domains:SSF51011											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	12	164991434	164991434	G	C	1	0	0	0	0	1	0	0	0	14561	971	34	4		4	SI	3	164991434	Missense_Mutation	SNP	G	C3L-00144_TP	6885749	164991434	33304125	436	4715											
SI	0	.	GRCh38	chr3	165013009	165013009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatcttccgttagagtttTatctattgttatgttgggca	7	20	8	6	1	3	1	1	0	2	1	4	1	4	1	1	1	0	5	1	1	4	9	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.4033A>G	p.Lys1345Glu	p.K1345E	ENST00000264382	34/48	442	356	86	361	360	1	strelka-varscan-mutect	SI,missense_variant,p.Lys1345Glu,ENST00000264382,NM_001041.3;	C	ENST00000264382	Transcript	missense_variant	4096/6011	4033/5484	1345/1827	K/E	Aaa/Gaa		1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	tolerated(1)		34/48		Pfam_domain:PF01055,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	165013009	165013009	T	C	1	0	0	0	0	1	0	0	0	14561	1763	61	5		5	SI	3	165013009	Missense_Mutation	SNP	T	C3L-00144_TP	21575	165013009	33282550	437	4716											
SI	0	.	GRCh38	chr3	165055205	165055205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacttacaatccaaagtcCatcatattgcacttcttgat	12	14	4	11	0	2	1	1	1	1	0	4	1	4	1	2	0	3	2	2	0	5	6			C3L-00144_TP	C3L-00144_NB	C	C																c.1501G>A	p.Gly501Arg	p.G501R	ENST00000264382	13/48	331	276	55	250	250	0	strelka-varscan-mutect	SI,missense_variant,p.Gly501Arg,ENST00000264382,NM_001041.3;	T	ENST00000264382	Transcript	missense_variant	1564/6011	1501/5484	501/1827	G/R	Gga/Aga	COSM3589591	1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	deleterious(0)		13/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66,PROSITE_patterns:PS00129,Pfam_domain:PF01055,Superfamily_domains:SSF51445											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	12	165055205	165055205	C	T	1	0	0	0	0	1	0	0	0	14561	603	21	3		3	SI	3	165055205	Missense_Mutation	SNP	C	C3L-00144_TP	42196	165055205	33240354	438	4717											
SI	0	.	GRCh38	chr3	165059027	165059027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgttgtgtgtttcccctcTcataggttgcatatgttgtt	5	19	9	8	0	1	0	1	0	1	0	3	0	2	0	2	1	1	6	2	1	2	7	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1334A>G	p.Glu445Gly	p.E445G	ENST00000264382	12/48	548	510	38	434	434	0	strelka-varscan-mutect	SI,missense_variant,p.Glu445Gly,ENST00000264382,NM_001041.3;	C	ENST00000264382	Transcript	missense_variant	1397/6011	1334/5484	445/1827	E/G	gAg/gGg		1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	deleterious(0.02)		12/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66,Pfam_domain:PF01055,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	165059027	165059027	T	C	1	0	0	0	0	1	0	0	0	14561	1551	54	5		5	SI	3	165059027	Missense_Mutation	SNP	T	C3L-00144_TP	3822	165059027	33236532	439	4718											
SERPINI2	0	.	GRCh38	chr3	167471654	167471654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttttcctttggctcccaGttgtaccatctcaagaacca	8	14	6	13	0	1	1	1	0	1	1	4	1	3	1	4	1	3	4	4	1	3	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.211C>A	p.Leu71Met	p.L71M	ENST00000616363	3/10	337	240	97	260	260	0	strelka-varscan-mutect	SERPINI2,missense_variant,p.Leu61Met,ENST00000476257,;SERPINI2,missense_variant,p.Leu71Met,ENST00000616363,NM_001012303.2;SERPINI2,missense_variant,p.Leu61Met,ENST00000264677,NM_006217.4;SERPINI2,missense_variant,p.Leu61Met,ENST00000461846,;SERPINI2,missense_variant,p.Leu61Met,ENST00000471111,;SERPINI2,missense_variant,p.Leu61Met,ENST00000466903,;SERPINI2,missense_variant,p.Leu61Met,ENST00000467583,;SERPINI2,non_coding_transcript_exon_variant,,ENST00000465031,;	T	ENST00000616363	Transcript	missense_variant	412/1769	211/1248	71/415	L/M	Ctg/Atg		1		-1	SERPINI2	HGNC	HGNC:8945	protein_coding	YES	CCDS75047.1	ENSP00000481699		A0A0C4DGW9	UPI00004CEC5E	NM_001012303.2	deleterious(0.04)		3/10		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF51,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	167471654	167471654	G	T	1	0	0	0	0	1	0	0	0	14395	1020	36	2		2	SERPINI2	3	167471654	Missense_Mutation	SNP	G	C3L-00144_TP	2412627	167471654	30823905	440	4719											
WDR49	0	.	GRCh38	chr3	167522384	167522384	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtctaaacaagattccTccttagaaaataaagaaatt	17	12	6	6	0	1	3	0	0	1	3	3	3	3	3	2	1	1	0	2	1	9	6			C3L-00144_TP	C3L-00144_NB	T	T																c.1649A>T	p.Glu550Val	p.E550V	ENST00000308378	12/15	191	140	51	171	171	0	strelka-varscan-mutect	WDR49,missense_variant,p.Glu550Val,ENST00000308378,NM_178824.3;WDR49,missense_variant,p.Glu527Val,ENST00000472600,;WDR49,missense_variant,p.Glu122Val,ENST00000493061,;WDR49,intron_variant,,ENST00000479765,;WDR49,non_coding_transcript_exon_variant,,ENST00000476376,;	A	ENST00000308378	Transcript	missense_variant	1955/2594	1649/2094	550/697	E/V	gAg/gTg	COSM4740979,COSM4740980	1		-1	WDR49	HGNC	HGNC:26587	protein_coding	YES	CCDS3201.1	ENSP00000311343	Q8IV35		UPI00000746AD	NM_178824.3	deleterious(0.03)		12/15		hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF219											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	12	167522384	167522384	T	A	1	0	0	0	0	1	0	0	0	17862	1551	54	4		4	WDR49	3	167522384	Missense_Mutation	SNP	T	C3L-00144_TP	50730	167522384	30773175	441	4720											
PRKCI	0	.	GRCh38	chr3	170270455	170270455	+	Frame_Shift_Del	DEL	G	G	-																															catctgcacagaccgaatatGgggacttggacgccaaggat																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.488delG	p.Gly163AspfsTer38	p.G163Dfs*38	ENST00000295797	6/18	167	132	35	160	160	0	sindel-varindel-pindel	PRKCI,frameshift_variant,p.Gly163AspfsTer38,ENST00000295797,NM_002740.5;	-	ENST00000295797	Transcript	frameshift_variant	790/4950	485/1791	162/596	W/X	tGg/tg		1		1	PRKCI	HGNC	HGNC:9404	protein_coding	YES	CCDS3212.2	ENSP00000295797	P41743		UPI000020A798	NM_002740.5			6/18		Gene3D:3.30.60.20,Pfam_domain:PF00130,PIRSF_domain:PIRSF000554,Prints_domain:PR00008,PROSITE_patterns:PS00479,PROSITE_profiles:PS50081,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF214,SMART_domains:SM00109,Superfamily_domains:SSF57889																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	12	170270455	170270455	G	-	1	0	1	0	1	0	0	0	0	12647	1357	47	0		0	PRKCI	3	170270455	Frame_Shift_Del	DEL	G	C3L-00144_TP	2748071	170270455	28025104	442	4721											
SLC7A14	0	.	GRCh38	chr3	170526745	170526745	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccagtgcccacacagctGccaacgccaagagagatgag	13	4	11	13	1	0	3	0	1	0	2	0	4	0	3	4	0	5	1	4	0	2	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.192C>A	p.=	p.G64G	ENST00000231706	2/8	609	447	162	448	448	0	strelka-varscan-mutect	SLC7A14,synonymous_variant,p.=,ENST00000231706,NM_020949.2;CLDN11,intron_variant,,ENST00000486975,;CLDN11,intron_variant,,ENST00000480067,;	T	ENST00000231706	Transcript	synonymous_variant	508/10103	192/2316	64/771	G	ggC/ggA		1		-1	SLC7A14	HGNC	HGNC:29326	protein_coding	YES	CCDS33892.1	ENSP00000231706	Q8TBB6		UPI0000051F6B	NM_020949.2			2/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF361,Pfam_domain:PF13520																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	12	170526745	170526745	G	T	1	0	0	0	0	0	0	0	1	14979	1306	46	2		2	SLC7A14	3	170526745	Silent	SNP	G	C3L-00144_TP	256290	170526745	27768814	443	4722											
SPATA16	0	.	GRCh38	chr3	173019545	173019545	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgcttgacgaagatgattCcggaaataggctgggtttaa	11	12	13	5	2	0	3	0	2	0	1	1	5	1	4	1	3	1	4	1	3	4	6			C3L-00144_TP	C3L-00144_NB	C	C																c.789G>T	p.=	p.R263R	ENST00000351008	4/11	568	463	105	403	402	1	strelka-varscan-mutect	SPATA16,synonymous_variant,p.=,ENST00000351008,NM_031955.5;	A	ENST00000351008	Transcript	synonymous_variant	973/2106	789/1710	263/569	R	cgG/cgT	COSM4559040	1		-1	SPATA16	HGNC	HGNC:29935	protein_coding	YES	CCDS3221.1	ENSP00000341765	Q9BXB7	A0A140VJV8	UPI000013D9BF	NM_031955.5			4/11		Gene3D:1.25.40.10,Pfam_domain:PF15015,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF336,Superfamily_domains:SSF48452											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	12	173019545	173019545	C	A	1	0	0	0	0	0	0	0	1	15331	842	30	2		2	SPATA16	3	173019545	Silent	SNP	C	C3L-00144_TP	2492800	173019545	25276014	444	4723											
USP13	0	.	GRCh38	chr3	179761186	179761186	+	Missense_Mutation	SNP	G	G	T																															tggaagcatgtcgcaaggctGtgtacttcactggaaatatg																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2023G>T	p.Val675Leu	p.V675L	ENST00000263966	17/21	327	281	46	236	236	0	strelka-varscan-mutect	USP13,missense_variant,p.Val675Leu,ENST00000263966,NM_003940.2;USP13,missense_variant,p.Val610Leu,ENST00000496897,;USP13,downstream_gene_variant,,ENST00000497155,;USP13,downstream_gene_variant,,ENST00000482333,;	T	ENST00000263966	Transcript	missense_variant	2494/8323	2023/2592	675/863	V/L	Gtg/Ttg		1		1	USP13	HGNC	HGNC:12611	protein_coding	YES	CCDS3235.1	ENSP00000263966	Q92995	A0A0A6YZ17	UPI000006DC10	NM_003940.2	tolerated(0.33)		17/21		PROSITE_profiles:PS50235,PROSITE_profiles:PS50030,Pfam_domain:PF00627,Gene3D:1.10.8.10,PIRSF_domain:PIRSF016308,Pfam_domain:PF00443,SMART_domains:SM00165,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	179761186	179761186	G	T	1	0	0	0	0	1	0	0	0	17578	1377	48	2		2	USP13	3	179761186	Missense_Mutation	SNP	G	C3L-00144_TP	6741641	179761186	18534373	445	4724	107	2									
USP13	0	.	GRCh38	chr3	179761188	179761188	+	Silent	SNP	G	G	T																															gaagcatgtcgcaaggctgtGtacttcactggaaatatggg																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2025G>T	p.=	p.V675V	ENST00000263966	17/21	329	284	45	243	242	1	strelka-varscan-mutect	USP13,synonymous_variant,p.=,ENST00000263966,NM_003940.2;USP13,synonymous_variant,p.=,ENST00000496897,;USP13,downstream_gene_variant,,ENST00000497155,;USP13,downstream_gene_variant,,ENST00000482333,;	T	ENST00000263966	Transcript	synonymous_variant	2496/8323	2025/2592	675/863	V	gtG/gtT		1		1	USP13	HGNC	HGNC:12611	protein_coding	YES	CCDS3235.1	ENSP00000263966	Q92995	A0A0A6YZ17	UPI000006DC10	NM_003940.2			17/21		PROSITE_profiles:PS50235,PROSITE_profiles:PS50030,Pfam_domain:PF00627,Gene3D:1.10.8.10,PIRSF_domain:PIRSF016308,Pfam_domain:PF00443,SMART_domains:SM00165,Superfamily_domains:SSF54001																	LOW	1	SNV	1			1										PASS		rs1326169448	.												T	2	4	12	179761188	179761188	G	T	1	0	0	0	0	0	0	0	1	17578	1364	48	2		2	USP13	3	179761188	Silent	SNP	G	C3L-00144_TP	2	179761188	18534371	446	4725	107	2									
CCDC39	0	.	GRCh38	chr3	180651460	180651460	+	Frame_Shift_Del	DEL	C	C	-																															attagtagctttctcttctaCagacatggttttctcagtta																								rs757040004		C3L-00144_TP	C3L-00144_NB	C	C																c.1108delG	p.Val370Ter	p.V370*	ENST00000442201	9/20	202	158	44	243	243	0	sindel-varindel-pindel	CCDC39,frameshift_variant,p.Val370Ter,ENST00000442201,NM_181426.1;CCDC39,frameshift_variant,p.Val370Ter,ENST00000476379,;	-	ENST00000442201	Transcript	frameshift_variant	1228/3279	1108/2826	370/941	V/X	Gta/ta	rs757040004	1		-1	CCDC39	HGNC	HGNC:25244	protein_coding	YES	CCDS46964.1	ENSP00000405708	Q9UFE4		UPI00015D7298	NM_181426.1			9/20		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18962,hmmpanther:PTHR18962:SF0																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	12	180651460	180651460	C	-	1	0	1	0	1	0	0	0	0	2520	478	17	0		0	CCDC39	3	180651460	Frame_Shift_Del	DEL	C	C3L-00144_TP	890272	180651460	17644099	447	4726											
KLHL24	0	.	GRCh38	chr3	183650425	183650425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgattccccagcaactaaGcgaaaagtttttgaaatgga	14	10	9	8	2	0	2	0	2	0	0	1	4	1	3	2	1	3	2	2	1	5	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.69G>A	p.=	p.K23K	ENST00000454652	4/9	218	159	59	170	170	0	strelka-varscan-mutect	KLHL24,synonymous_variant,p.=,ENST00000454652,NM_017644.3;KLHL24,synonymous_variant,p.=,ENST00000242810,;KLHL24,synonymous_variant,p.=,ENST00000476808,;KLHL24,synonymous_variant,p.=,ENST00000493074,;KLHL24,synonymous_variant,p.=,ENST00000468001,;KLHL24,synonymous_variant,p.=,ENST00000454495,;KLHL24,synonymous_variant,p.=,ENST00000482138,;KLHL24,synonymous_variant,p.=,ENST00000468101,;KLHL24,synonymous_variant,p.=,ENST00000437402,;KLHL24,synonymous_variant,p.=,ENST00000427201,;KLHL24,synonymous_variant,p.=,ENST00000473045,;KLHL24,intron_variant,,ENST00000475827,;	A	ENST00000454652	Transcript	synonymous_variant	455/7380	69/1803	23/600	K	aaG/aaA		1		1	KLHL24	HGNC	HGNC:25947	protein_coding	YES	CCDS3246.1	ENSP00000395012	Q6TFL4		UPI000020A86F	NM_017644.3			4/9		PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF257																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	183650425	183650425	G	A	1	0	0	0	0	0	0	0	1	8243	962	34	3		3	KLHL24	3	183650425	Silent	SNP	G	C3L-00144_TP	2998965	183650425	14645134	448	4727											
HTR3C	0	.	GRCh38	chr3	184054731	184054731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctataggaagaggcgaCgcttttaccatcaattgctc	10	12	8	11	2	2	1	1	0	1	1	4	3	2	2	1	2	2	2	1	2	5	5	rs143289420		C3L-00144_TP	C3L-00144_NB	C	C																c.78C>A	p.Asp26Glu	p.D26E	ENST00000318351	2/9	42	33	9	36	36	0	strelka-varscan-mutect	HTR3C,missense_variant,p.Asp26Glu,ENST00000318351,NM_130770.2;	A	ENST00000318351	Transcript	missense_variant	112/1697	78/1344	26/447	D/E	gaC/gaA	rs143289420	1		1	HTR3C	HGNC	HGNC:24003	protein_coding	YES	CCDS3250.1	ENSP00000322617	Q8WXA8		UPI00001402D6	NM_130770.2	tolerated(0.29)		2/9		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF565																	MODERATE	1	SNV	1			1										PASS		rs143289420	.												A	3	1	12	184054731	184054731	C	A	1	0	0	0	0	1	0	0	0	7342	535	19	1		1	HTR3C	3	184054731	Missense_Mutation	SNP	C	C3L-00144_TP	404306	184054731	14240828	449	4728											
EIF4G1	0	.	GRCh38	chr3	184321971	184321971	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatggaagaagaagaagaaGaggaagaaggagaagcagga	23	1	16	1	0	0	7	0	0	0	7	0	11	0	10	0	4	1	1	0	4	9	0			C3L-00144_TP	C3L-00144_NB	G	G																c.1408G>C	p.Glu470Gln	p.E470Q	ENST00000424196	9/32	250	208	42	188	188	0	strelka-varscan-mutect	EIF4G1,missense_variant,p.Glu463Gln,ENST00000342981,NM_182917.4;EIF4G1,missense_variant,p.Glu470Gln,ENST00000424196,;EIF4G1,missense_variant,p.Glu423Gln,ENST00000414031,NM_001291157.1;EIF4G1,missense_variant,p.Glu463Gln,ENST00000346169,NM_198241.2;EIF4G1,missense_variant,p.Glu470Gln,ENST00000352767,NM_001194947.1;EIF4G1,missense_variant,p.Glu376Gln,ENST00000392537,NM_198244.2;EIF4G1,missense_variant,p.Glu470Gln,ENST00000382330,NM_001194946.1;EIF4G1,missense_variant,p.Glu376Gln,ENST00000427845,;EIF4G1,missense_variant,p.Glu267Gln,ENST00000434061,NM_004953.4;EIF4G1,missense_variant,p.Glu299Gln,ENST00000350481,NM_198242.2;EIF4G1,missense_variant,p.Glu423Gln,ENST00000411531,;EIF4G1,missense_variant,p.Glu267Gln,ENST00000435046,;EIF4G1,missense_variant,p.Glu299Gln,ENST00000441154,;EIF4G1,missense_variant,p.Glu404Gln,ENST00000426123,;EIF4G1,missense_variant,p.Glu470Gln,ENST00000421110,;EIF4G1,missense_variant,p.Glu463Gln,ENST00000450424,;EIF4G1,missense_variant,p.Glu299Gln,ENST00000444861,;EIF4G1,missense_variant,p.Glu267Gln,ENST00000457456,;EIF4G1,downstream_gene_variant,,ENST00000427141,;EIF4G1,downstream_gene_variant,,ENST00000456033,;EIF4G1,upstream_gene_variant,,ENST00000448284,;EIF4G1,downstream_gene_variant,,ENST00000427607,;EIF4G1,downstream_gene_variant,,ENST00000440448,;EIF4G1,downstream_gene_variant,,ENST00000444134,;EIF4G1,downstream_gene_variant,,ENST00000455679,;EIF4G1,downstream_gene_variant,,ENST00000428387,;SNORD66,upstream_gene_variant,,ENST00000390856,;EIF4G1,3_prime_UTR_variant,,ENST00000442406,;EIF4G1,3_prime_UTR_variant,,ENST00000413967,;EIF4G1,downstream_gene_variant,,ENST00000484862,;EIF4G1,upstream_gene_variant,,ENST00000466311,;EIF4G1,downstream_gene_variant,,ENST00000493299,;	C	ENST00000424196	Transcript	missense_variant	1797/5653	1408/4821	470/1606	E/Q	Gag/Cag	COSM402406	1		1	EIF4G1	HGNC	HGNC:3296	protein_coding	YES	CCDS54687.1	ENSP00000416255	Q04637		UPI00015E0966		tolerated(0.28)		9/32		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	2		1	1										PASS		rs1355098520	.												C	3	2	12	184321971	184321971	G	C	1	0	0	0	0	1	0	0	0	4870	943	33	4		4	EIF4G1	3	184321971	Missense_Mutation	SNP	G	C3L-00144_TP	267240	184321971	13973588	450	4729											
IL1RAP	0	.	GRCh38	chr3	190648374	190648374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgagcttcattcagaaaaGcagacgcctcctggttgttc	9	13	9	10	1	2	3	2	1	0	2	4	3	3	3	2	1	2	4	2	1	2	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1382G>A	p.Ser461Asn	p.S461N	ENST00000412504	10/10	57	39	18	57	57	0	strelka-varscan-mutect	IL1RAP,missense_variant,p.Ser461Asn,ENST00000412504,;IL1RAP,missense_variant,p.Ser461Asn,ENST00000447382,NM_002182.3;IL1RAP,missense_variant,p.Ser461Asn,ENST00000072516,NM_001167929.1;IL1RAP,missense_variant,p.Ser461Asn,ENST00000439062,NM_001167928.1;IL1RAP,intron_variant,,ENST00000317757,NM_001167931.1;IL1RAP,intron_variant,,ENST00000443369,;IL1RAP,3_prime_UTR_variant,,ENST00000413869,;IL1RAP,3_prime_UTR_variant,,ENST00000342550,;	A	ENST00000412504	Transcript	missense_variant	1731/4875	1382/1713	461/570	S/N	aGc/aAc		1		1	IL1RAP	HGNC	HGNC:5995	protein_coding		CCDS3298.1	ENSP00000412053	Q9NPH3		UPI000005416D		deleterious(0)		10/10		Gene3D:3.40.50.10140,Pfam_domain:PF01582,Prints_domain:PR01537,PROSITE_profiles:PS50104,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF20,SMART_domains:SM00255,Superfamily_domains:SSF52200																	MODERATE		SNV	1			1										PASS		.	.												A	3	1	12	190648374	190648374	G	A	1	0	0	0	0	1	0	0	0	7563	971	34	3		3	IL1RAP	3	190648374	Missense_Mutation	SNP	G	C3L-00144_TP	6326403	190648374	7647185	451	4730											
MUC20	0	.	GRCh38	chr3	195726399	195726399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacatcgcaaccaaggggcCcttccccaccagcagggacc	10	3	11	17	1	0	0	0	0	0	0	2	2	1	2	6	4	2	2	6	4	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1796C>A	p.Pro599His	p.P599H	ENST00000447234	2/4	432	404	28	302	301	1	varscan-mutect	MUC20,missense_variant,p.Pro564His,ENST00000445522,;MUC20,missense_variant,p.Pro599His,ENST00000447234,NM_001282506.1;MUC20,missense_variant,p.Pro599His,ENST00000436408,;MUC20,missense_variant,p.Pro428His,ENST00000320736,;MUC20,missense_variant,p.Pro11His,ENST00000423938,;LINC00969,intron_variant,,ENST00000600197,;LINC00969,intron_variant,,ENST00000628392,;LINC00969,intron_variant,,ENST00000629721,;LINC00969,intron_variant,,ENST00000594446,;LINC00969,intron_variant,,ENST00000627297,;LINC00969,intron_variant,,ENST00000595086,;LINC00969,intron_variant,,ENST00000631359,;LINC00969,intron_variant,,ENST00000628125,;LINC00969,intron_variant,,ENST00000629537,;LINC00969,intron_variant,,ENST00000627993,;LINC00969,intron_variant,,ENST00000597662,;LINC00969,intron_variant,,ENST00000628982,;LINC00969,intron_variant,,ENST00000629807,;LINC00969,intron_variant,,ENST00000627035,;LINC00969,intron_variant,,ENST00000626093,;LINC00969,downstream_gene_variant,,ENST00000627609,;LINC00969,downstream_gene_variant,,ENST00000627471,;LINC00969,downstream_gene_variant,,ENST00000630197,;LINC00969,downstream_gene_variant,,ENST00000455807,;LINC00969,downstream_gene_variant,,ENST00000594976,;LINC00969,downstream_gene_variant,,ENST00000630874,;LINC00969,downstream_gene_variant,,ENST00000600288,;LINC00969,downstream_gene_variant,,ENST00000599566,;LINC00969,downstream_gene_variant,,ENST00000626979,;LINC00969,downstream_gene_variant,,ENST00000626872,;LINC00969,downstream_gene_variant,,ENST00000625383,;LINC00969,downstream_gene_variant,,ENST00000612098,;LINC00969,downstream_gene_variant,,ENST00000626566,;LINC00969,downstream_gene_variant,,ENST00000626852,;LINC00969,downstream_gene_variant,,ENST00000432194,;LINC00969,downstream_gene_variant,,ENST00000625665,;LINC00969,downstream_gene_variant,,ENST00000625531,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,downstream_gene_variant,,ENST00000480350,;MUC20,non_coding_transcript_exon_variant,,ENST00000498018,;	A	ENST00000447234	Transcript	missense_variant	1922/2589	1796/2130	599/709	P/H	cCc/cAc		1		1	MUC20	HGNC	HGNC:23282	protein_coding	YES	CCDS63877.1	ENSP00000414350	Q8N307		UPI000198CC5A	NM_001282506.1	deleterious(0.03)		2/4		hmmpanther:PTHR37358,hmmpanther:PTHR37358:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	195726399	195726399	C	A	1	0	0	0	0	1	0	0	0	9974	623	22	2		2	MUC20	3	195726399	Missense_Mutation	SNP	C	C3L-00144_TP	5078025	195726399	2569160	452	4731											
MUC4	0	.	GRCh38	chr3	195780980	195780980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacaggaagaggcgtggCgtgaccggtggatactgagg	9	6	20	6	3	0	4	0	3	0	1	0	6	0	6	1	7	1	0	1	7	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.10600G>T	p.Ala3534Ser	p.A3534S	ENST00000463781	2/25	291	178	113	273	273	0	strelka-varscan	MUC4,missense_variant,p.Ala3534Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala3534Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala3534Ser,ENST00000478156,;MUC4,missense_variant,p.Ala3534Ser,ENST00000466475,;MUC4,missense_variant,p.Ala3534Ser,ENST00000477756,;MUC4,missense_variant,p.Ala3534Ser,ENST00000477086,;MUC4,missense_variant,p.Ala3534Ser,ENST00000480843,;MUC4,missense_variant,p.Ala3534Ser,ENST00000462323,;MUC4,missense_variant,p.Ala3534Ser,ENST00000470451,;MUC4,missense_variant,p.Ala3534Ser,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	A	ENST00000463781	Transcript	missense_variant	11060/17110	10600/16239	3534/5412	A/S	Gcc/Tcc		1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	tolerated_low_confidence(0.25)		2/25																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	195780980	195780980	C	A	1	0	0	0	0	1	0	0	0	9977	768	27	1		1	MUC4	3	195780980	Missense_Mutation	SNP	C	C3L-00144_TP	54581	195780980	2514579	453	4732											
SENP5	0	.	GRCh38	chr3	196899673	196899673	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctttatttaaggattcctAgatgaggttatgaagaagta	13	15	9	4	0	0	4	0	2	0	2	2	5	2	5	2	2	0	2	2	2	7	8	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1521A>T	p.=	p.L507L	ENST00000323460	3/10	174	149	25	160	160	0	strelka-varscan-mutect	SENP5,synonymous_variant,p.=,ENST00000323460,NM_152699.4;SENP5,synonymous_variant,p.=,ENST00000445299,NM_001308045.1;SENP5,5_prime_UTR_variant,,ENST00000419026,;SENP5,upstream_gene_variant,,ENST00000489744,;	T	ENST00000323460	Transcript	synonymous_variant	1770/6308	1521/2268	507/755	L	ctA/ctT		1		1	SENP5	HGNC	HGNC:28407	protein_coding	YES	CCDS3322.1	ENSP00000327197	Q96HI0		UPI00001AF3BE	NM_152699.4			3/10		hmmpanther:PTHR12606:SF10,hmmpanther:PTHR12606																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	196899673	196899673	A	T	1	0	0	0	0	0	0	0	1	14325	407	15	4		4	SENP5	3	196899673	Silent	SNP	A	C3L-00144_TP	1118693	196899673	1395886	454	4733											
FYTTD1	0	.	GRCh38	chr3	197781834	197781834	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggatgacgttgaatgagcgGtttgggatcctgaaggaaca	11	9	16	5	2	0	4	0	4	0	0	1	7	1	7	1	4	2	2	1	4	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.882G>T	p.=	p.R294R	ENST00000241502	9/9	262	210	52	194	193	1	strelka-varscan-mutect	FYTTD1,synonymous_variant,p.=,ENST00000241502,NM_032288.6;FYTTD1,synonymous_variant,p.=,ENST00000424384,;FYTTD1,synonymous_variant,p.=,ENST00000415708,NM_001011537.2;FYTTD1,downstream_gene_variant,,ENST00000428738,;FYTTD1,non_coding_transcript_exon_variant,,ENST00000492360,;FYTTD1,downstream_gene_variant,,ENST00000412924,;FYTTD1,downstream_gene_variant,,ENST00000418169,;	T	ENST00000241502	Transcript	synonymous_variant	1104/6866	882/957	294/318	R	cgG/cgT		1		1	FYTTD1	HGNC	HGNC:25407	protein_coding	YES	CCDS3329.1	ENSP00000241502	Q96QD9	A0A024R9K4	UPI0000073CEC	NM_032288.6			9/9		hmmpanther:PTHR21038:SF2,hmmpanther:PTHR21038,Pfam_domain:PF07078																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	197781834	197781834	G	T	1	0	0	0	0	0	0	0	1	5998	1248	44	2		2	FYTTD1	3	197781834	Silent	SNP	G	C3L-00144_TP	882161	197781834	513725	455	4734											
GAK	0	.	GRCh38	chr4	904694	904694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcatgtgctgcacggcgcgGcacgtctggtagaagatctt	7	10	14	10	4	2	2	0	0	2	2	2	2	2	2	0	3	3	5	0	3	2	2	rs754771509		C3L-00144_TP	C3L-00144_NB	G	G																c.468C>G	p.Cys156Trp	p.C156W	ENST00000314167	5/28	117	103	14	117	117	0	strelka-varscan-mutect	GAK,missense_variant,p.Cys156Trp,ENST00000314167,NM_005255.2;GAK,missense_variant,p.Cys77Trp,ENST00000511163,NM_001318134.1,NM_001286833.1;GAK,missense_variant,p.Cys68Trp,ENST00000511229,;GAK,intron_variant,,ENST00000618573,;GAK,intron_variant,,ENST00000502656,;GAK,non_coding_transcript_exon_variant,,ENST00000510022,;GAK,3_prime_UTR_variant,,ENST00000505819,;GAK,3_prime_UTR_variant,,ENST00000512325,;GAK,non_coding_transcript_exon_variant,,ENST00000507991,;GAK,intron_variant,,ENST00000507580,;	C	ENST00000314167	Transcript	missense_variant	579/4442	468/3936	156/1311	C/W	tgC/tgG	rs754771509	1		-1	GAK	HGNC	HGNC:4113	protein_coding	YES	CCDS3340.1	ENSP00000314499	O14976		UPI000012B04A	NM_005255.2	deleterious(0)		5/28		PROSITE_profiles:PS50011,hmmpanther:PTHR23172:SF34,hmmpanther:PTHR23172,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs754771509	.												C	3	2	12	904694	904694	G	C	1	0	0	0	0	1	0	0	0	6063	1195	42	4		4	GAK	4	904694	Missense_Mutation	SNP	G	C3L-00144_TP		904694	189309861	456	4735											
EVC	0	.	GRCh38	chr4	5798767	5798767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcagccaccaagagccGggccaaggacagggatgact	13	3	14	11	1	0	2	0	1	0	1	0	5	0	4	4	3	3	1	4	3	3	0	rs2279252		C3L-00144_TP	C3L-00144_NB	G	G																c.2279G>T	p.Arg760Leu	p.R760L	ENST00000264956	15/21	354	277	77	357	357	0	strelka-varscan-mutect	EVC,missense_variant,p.Arg760Leu,ENST00000264956,NM_001306090.1,NM_153717.2;EVC,non_coding_transcript_exon_variant,,ENST00000515113,;CRMP1,intron_variant,,ENST00000506216,;EVC,downstream_gene_variant,,ENST00000506240,;	T	ENST00000264956	Transcript	missense_variant	2463/6431	2279/2979	760/992	R/L	cGg/cTg	rs2279252	1		1	EVC	HGNC	HGNC:3497	protein_coding	YES	CCDS3383.1	ENSP00000264956	P57679		UPI000012A2A5	NM_001306090.1,NM_153717.2	tolerated(0.05)		15/21		hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF13												20087401					MODERATE	1	SNV	1			1										PASS		rs2279252	.												T	3	4	12	5798767	5798767	G	T	1	0	0	0	0	1	0	0	0	5152	1116	39	1		1	EVC	4	5798767	Missense_Mutation	SNP	G	C3L-00144_TP	4894073	5798767	184415788	457	4736											
JAKMIP1	0	.	GRCh38	chr4	6035937	6035937	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagcagctccatgcgctcCcgcaggatctggctgtcgaa	7	8	12	14	3	1	0	0	0	1	0	4	2	3	1	2	2	4	6	2	2	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2346G>T	p.=	p.R782R	ENST00000409021	19/21	111	74	37	88	88	0	strelka-mutect	JAKMIP1,synonymous_variant,p.=,ENST00000409021,NM_001099433.1;JAKMIP1,synonymous_variant,p.=,ENST00000409371,;JAKMIP1,synonymous_variant,p.=,ENST00000637373,;	A	ENST00000409021	Transcript	synonymous_variant	2796/2975	2346/2496	782/831	R	cgG/cgT		1		-1	JAKMIP1	HGNC	HGNC:26460	protein_coding	YES	CCDS47005.1	ENSP00000386711	Q96N16		UPI00015734C1	NM_001099433.1			19/21		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF6																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	6035937	6035937	C	A	1	0	0	0	0	0	0	0	1	7853	610	22	2		2	JAKMIP1	4	6035937	Silent	SNP	C	C3L-00144_TP	237170	6035937	184178618	458	4737											
WFS1	0	.	GRCh38	chr4	6300992	6300992	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccgaggtcaacttcggctgGaaccacctggagccctatgc	8	7	12	14	2	1	0	1	0	0	0	2	3	1	2	4	4	4	1	4	4	3	2	rs780762268		C3L-00144_TP	C3L-00144_NB	G	G																c.1197G>C	p.Trp399Cys	p.W399C	ENST00000226760	8/8	399	319	80	356	356	0	strelka-varscan-mutect	WFS1,missense_variant,p.Trp399Cys,ENST00000226760,NM_001145853.1,NM_006005.3;WFS1,missense_variant,p.Trp399Cys,ENST00000503569,;WFS1,downstream_gene_variant,,ENST00000506362,;WFS1,non_coding_transcript_exon_variant,,ENST00000507765,;WFS1,downstream_gene_variant,,ENST00000513395,;	C	ENST00000226760	Transcript	missense_variant	1367/3640	1197/2673	399/890	W/C	tgG/tgC	rs780762268	1		1	WFS1	HGNC	HGNC:12762	protein_coding	YES	CCDS3386.1	ENSP00000226760	O76024	A0A0S2Z4V6	UPI00000715C3	NM_001145853.1,NM_006005.3	deleterious(0)		8/8		hmmpanther:PTHR13098																	MODERATE	1	SNV	1			1										PASS		rs780762268	.												C	3	2	12	6300992	6300992	G	C	1	0	0	0	0	1	0	0	0	17917	1183	41	4		4	WFS1	4	6300992	Missense_Mutation	SNP	G	C3L-00144_TP	265055	6300992	183913563	459	4738											
SORCS2	0	.	GRCh38	chr4	7726845	7726845	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggcgacgtgcgtgtgacGgtgcaggccgcctgtgggaa	6	6	19	10	6	0	1	0	1	0	0	0	3	0	2	2	4	2	1	2	4	1	0	rs529978013		C3L-00144_TP	C3L-00144_NB	G	G																c.2811G>C	p.=	p.T937T	ENST00000507866	21/27	191	176	15	186	186	0	strelka-varscan-mutect	SORCS2,synonymous_variant,p.=,ENST00000507866,NM_020777.2;SORCS2,synonymous_variant,p.=,ENST00000329016,;	C	ENST00000507866	Transcript	synonymous_variant	2920/6152	2811/3480	937/1159	T	acG/acC	rs529978013	1		1	SORCS2	HGNC	HGNC:16698	protein_coding	YES	CCDS47008.1	ENSP00000422185	Q96PQ0		UPI0000EE6E4F	NM_020777.2			21/27		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF9																	LOW	1	SNV	2			1										PASS		rs529978013	.												C	2	2	12	7726845	7726845	G	C	1	0	0	0	0	0	0	0	1	15253	1103	39	4		4	SORCS2	4	7726845	Silent	SNP	G	C3L-00144_TP	1425853	7726845	182487710	460	4739											
SORCS2	0	.	GRCh38	chr4	7729631	7729631	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgactgtggtgaagccGgggctgcccactttggccga	5	9	16	11	2	0	2	0	2	0	0	0	3	0	2	3	5	2	1	3	5	1	1	rs772636271		C3L-00144_TP	C3L-00144_NB	G	G																c.3027G>C	p.=	p.P1009P	ENST00000507866	23/27	230	201	29	202	202	0	strelka-varscan-mutect	SORCS2,synonymous_variant,p.=,ENST00000507866,NM_020777.2;SORCS2,synonymous_variant,p.=,ENST00000329016,;SORCS2,upstream_gene_variant,,ENST00000505529,;	C	ENST00000507866	Transcript	synonymous_variant	3136/6152	3027/3480	1009/1159	P	ccG/ccC	rs772636271	1		1	SORCS2	HGNC	HGNC:16698	protein_coding	YES	CCDS47008.1	ENSP00000422185	Q96PQ0		UPI0000EE6E4F	NM_020777.2			23/27		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF9																	LOW	1	SNV	2			1										PASS		rs772636271	.												C	2	2	12	7729631	7729631	G	C	1	0	0	0	0	0	0	0	1	15253	1103	39	4		4	SORCS2	4	7729631	Silent	SNP	G	C3L-00144_TP	2786	7729631	182484924	461	4740											
SH3TC1	0	.	GRCh38	chr4	8227890	8227890	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgagctgtgtcaaggtGgcctcattgcggacacgggg	6	9	17	9	2	2	1	2	1	0	0	2	2	2	2	1	5	3	2	1	5	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2196G>T	p.=	p.V732V	ENST00000245105	12/18	376	299	77	331	331	0	strelka-varscan-mutect	SH3TC1,synonymous_variant,p.=,ENST00000245105,NM_018986.3;SH3TC1,downstream_gene_variant,,ENST00000508641,;SH3TC1,downstream_gene_variant,,ENST00000514274,;SH3TC1,upstream_gene_variant,,ENST00000507801,;SH3TC1,3_prime_UTR_variant,,ENST00000515682,NM_001318480.1;SH3TC1,3_prime_UTR_variant,,ENST00000502669,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000506360,;SH3TC1,upstream_gene_variant,,ENST00000502559,;SH3TC1,upstream_gene_variant,,ENST00000502350,;SH3TC1,upstream_gene_variant,,ENST00000508183,;SH3TC1,upstream_gene_variant,,ENST00000511002,;SH3TC1,downstream_gene_variant,,ENST00000509553,;SH3TC1,upstream_gene_variant,,ENST00000513495,;SH3TC1,downstream_gene_variant,,ENST00000508438,;	T	ENST00000245105	Transcript	synonymous_variant	2263/4226	2196/4011	732/1336	V	gtG/gtT		1		1	SH3TC1	HGNC	HGNC:26009	protein_coding	YES	CCDS3399.1	ENSP00000245105	Q8TE82		UPI000013CB93	NM_018986.3			12/18		hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF3																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	12	8227890	8227890	G	T	1	0	0	0	0	0	0	0	1	14520	1335	47	2		2	SH3TC1	4	8227890	Silent	SNP	G	C3L-00144_TP	498259	8227890	181986665	462	4741											
DRD5	0	.	GRCh38	chr4	9783229	9783229	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcctacaaccaagacatCgtcttccacaaggaaatcgc	14	8	5	14	2	2	1	0	0	2	1	6	2	3	2	3	1	2	0	3	1	5	2	rs866493427		C3L-00144_TP	C3L-00144_NB	C	C																c.1200C>A	p.=	p.I400I	ENST00000304374	1/1	329	290	39	301	301	0	strelka-varscan-mutect	DRD5,synonymous_variant,p.=,ENST00000304374,NM_000798.4;SLC2A9,intron_variant,,ENST00000503803,;SLC2A9,intron_variant,,ENST00000508585,;	A	ENST00000304374	Transcript	synonymous_variant	1550/2330	1200/1434	400/477	I	atC/atA	rs866493427,COSM5516297	1		1	DRD5	HGNC	HGNC:3026	protein_coding	YES	CCDS3405.1	ENSP00000306129	P21918		UPI000004E905	NM_000798.4			1/1													0,1						LOW	1	SNV			0,1	1										PASS		rs866493427	.												A	2	1	12	9783229	9783229	C	A	1	0	0	0	0	0	0	0	1	4579	874	31	1		1	DRD5	4	9783229	Silent	SNP	C	C3L-00144_TP	1555339	9783229	180431326	463	4742											
ZNF518B	0	.	GRCh38	chr4	10445827	10445827	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcgtatacgaaatgtagcTgcagtgagaacaaatgaatt	15	12	9	5	2	0	2	0	2	0	1	1	4	0	2	0	0	4	4	0	0	7	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.502A>T	p.Ser168Cys	p.S168C	ENST00000326756	3/3	186	159	27	155	155	0	strelka-varscan-mutect	ZNF518B,missense_variant,p.Ser168Cys,ENST00000326756,NM_053042.2;ZNF518B,downstream_gene_variant,,ENST00000507515,;	A	ENST00000326756	Transcript	missense_variant	941/6894	502/3225	168/1074	S/C	Agc/Tgc		1		-1	ZNF518B	HGNC	HGNC:29365	protein_coding	YES	CCDS33960.1	ENSP00000317614	Q9C0D4		UPI0000160B97	NM_053042.2	deleterious(0)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF188,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	12	10445827	10445827	T	A	1	0	0	0	0	1	0	0	0	18535	1580	55	4		4	ZNF518B	4	10445827	Missense_Mutation	SNP	T	C3L-00144_TP	662598	10445827	179768728	464	4743											
BOD1L1	0	.	GRCh38	chr4	13601273	13601273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcccaatttcatttcctCttccagtactagtcacaaca	11	13	3	14	0	3	0	2	0	1	0	5	0	5	0	3	0	3	1	3	0	4	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.5627G>T	p.Arg1876Ile	p.R1876I	ENST00000040738	10/26	212	168	44	215	215	0	strelka-varscan-mutect	BOD1L1,missense_variant,p.Arg1876Ile,ENST00000040738,NM_148894.2;	A	ENST00000040738	Transcript	missense_variant	5763/10565	5627/9156	1876/3051	R/I	aGa/aTa		1		-1	BOD1L1	HGNC	HGNC:31792	protein_coding	YES	CCDS3411.2	ENSP00000040738	Q8NFC6		UPI000066D9E3	NM_148894.2	deleterious(0)		10/26		hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	13601273	13601273	C	A	1	0	0	0	0	1	0	0	0	1639	913	32	2		2	BOD1L1	4	13601273	Missense_Mutation	SNP	C	C3L-00144_TP	3155446	13601273	176613282	465	4744											
BOD1L1	0	.	GRCh38	chr4	13601766	13601766	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acccattctcatcatatttcCctgggagccatccacctctt	8	13	4	16	0	3	0	2	0	2	0	6	1	5	1	5	1	1	0	5	1	1	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.5134G>T	p.Gly1712Ter	p.G1712*	ENST00000040738	10/26	249	213	36	282	282	0	strelka-varscan-mutect	BOD1L1,stop_gained,p.Gly1712Ter,ENST00000040738,NM_148894.2;	A	ENST00000040738	Transcript	stop_gained	5270/10565	5134/9156	1712/3051	G/*	Gga/Tga		1		-1	BOD1L1	HGNC	HGNC:31792	protein_coding	YES	CCDS3411.2	ENSP00000040738	Q8NFC6		UPI000066D9E3	NM_148894.2			10/26		hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	12	13601766	13601766	C	A	1	0	0	0	0	0	1	0	0	1639	632	22	2		2	BOD1L1	4	13601766	Nonsense_Mutation	SNP	C	C3L-00144_TP	493	13601766	176612789	466	4745											
BOD1L1	0	.	GRCh38	chr4	13614223	13614223	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccttcaacagttttagCtttattactgttcttttctg	6	21	5	9	0	3	0	1	0	2	0	4	0	4	0	1	0	3	3	1	0	4	9	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1147G>T	p.Ala383Ser	p.A383S	ENST00000040738	4/26	74	69	5	65	65	0	strelka-varscan-mutect	BOD1L1,missense_variant,p.Ala383Ser,ENST00000040738,NM_148894.2;BOD1L1,3_prime_UTR_variant,,ENST00000482713,;	A	ENST00000040738	Transcript	missense_variant	1283/10565	1147/9156	383/3051	A/S	Gct/Tct		1		-1	BOD1L1	HGNC	HGNC:31792	protein_coding	YES	CCDS3411.2	ENSP00000040738	Q8NFC6		UPI000066D9E3	NM_148894.2	tolerated(0.48)		4/26		hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	13614223	13614223	C	A	1	0	0	0	0	1	0	0	0	1639	797	28	2		2	BOD1L1	4	13614223	Missense_Mutation	SNP	C	C3L-00144_TP	12457	13614223	176600332	467	4746											
BST1	0	.	GRCh38	chr4	15731756	15731756	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagggcagcagccgctactCaaagaaaagccccaagtctt	13	5	10	13	1	2	1	1	0	1	1	2	1	2	1	3	1	4	4	3	1	5	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.868C>G	p.Gln290Glu	p.Q290E	ENST00000265016	9/9	146	135	11	115	115	0	strelka-varscan-mutect	BST1,missense_variant,p.Gln305Glu,ENST00000382346,;BST1,missense_variant,p.Gln290Glu,ENST00000265016,NM_004334.2;BST1,intron_variant,,ENST00000514445,;BST1,intron_variant,,ENST00000514989,;RP11-115L11.1,upstream_gene_variant,,ENST00000498116,;	G	ENST00000265016	Transcript	missense_variant	1063/1480	868/957	290/318	Q/E	Caa/Gaa		1		1	BST1	HGNC	HGNC:1118	protein_coding	YES	CCDS3416.1	ENSP00000265016	Q10588		UPI0000072318	NM_004334.2	tolerated(0.14)		9/9		Gene3D:3.40.50.720,hmmpanther:PTHR10912,hmmpanther:PTHR10912:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	15731756	15731756	C	G	1	0	0	0	0	1	0	0	0	1708	827	29	4		4	BST1	4	15731756	Missense_Mutation	SNP	C	C3L-00144_TP	2117533	15731756	174482799	468	4747											
KCNIP4	0	.	GRCh38	chr4	20730112	20730112	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaaagagctgcatggaGcgcattatgttttcatcctg	9	15	9	8	1	2	1	2	0	0	1	3	2	3	2	1	1	3	4	1	1	2	5	rs781507352		C3L-00144_TP	C3L-00144_NB	G	G																c.723C>A	p.=	p.R241R	ENST00000382152	9/9	125	106	19	96	96	0	strelka-varscan-mutect	KCNIP4,synonymous_variant,p.=,ENST00000382148,NM_001035003.1;KCNIP4,synonymous_variant,p.=,ENST00000359001,NM_147182.3;KCNIP4,synonymous_variant,p.=,ENST00000382152,NM_025221.5;KCNIP4,synonymous_variant,p.=,ENST00000382150,NM_147183.3;KCNIP4,synonymous_variant,p.=,ENST00000447367,NM_147181.3;KCNIP4,synonymous_variant,p.=,ENST00000509207,NM_001035004.1;PACRGL,intron_variant,,ENST00000507634,;PACRGL,downstream_gene_variant,,ENST00000360916,NM_145048.3;PACRGL,downstream_gene_variant,,ENST00000295290,;PACRGL,downstream_gene_variant,,ENST00000513459,NM_001317849.1;PACRGL,downstream_gene_variant,,ENST00000444671,NM_001130727.1;PACRGL,downstream_gene_variant,,ENST00000503585,NM_001258345.1;PACRGL,downstream_gene_variant,,ENST00000502374,NM_001258346.1;PACRGL,downstream_gene_variant,,ENST00000502938,;KCNIP4,non_coding_transcript_exon_variant,,ENST00000382149,;KCNIP4,3_prime_UTR_variant,,ENST00000515786,;PACRGL,intron_variant,,ENST00000471979,;PACRGL,intron_variant,,ENST00000467997,;PACRGL,intron_variant,,ENST00000506702,;PACRGL,downstream_gene_variant,,ENST00000508952,;PACRGL,downstream_gene_variant,,ENST00000506648,;	T	ENST00000382152	Transcript	synonymous_variant	891/1767	723/753	241/250	R	cgC/cgA	rs781507352	1		-1	KCNIP4	HGNC	HGNC:30083	protein_coding	YES	CCDS43216.1	ENSP00000371587	Q6PIL6		UPI000004A274	NM_025221.5			9/9		hmmpanther:PTHR23055:SF30,hmmpanther:PTHR23055,Gene3D:1.10.238.10,Superfamily_domains:SSF47473,Prints_domain:PR00450																	LOW		SNV	5			1										PASS		rs781507352	.												T	2	4	12	20730112	20730112	G	T	1	0	0	0	0	0	0	0	1	7958	958	34	2		2	KCNIP4	4	20730112	Silent	SNP	G	C3L-00144_TP	4998356	20730112	169484443	469	4748											
NWD2	0	.	GRCh38	chr4	37245075	37245075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagagggcgatgtggcCggccggcgcgggcaccaagc	6	3	17	15	5	0	1	0	0	0	1	1	2	1	1	4	5	1	1	4	5	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.8C>A	p.Pro3Gln	p.P3Q	ENST00000309447	1/7	311	242	69	336	335	1	strelka-varscan-mutect	NWD2,missense_variant,p.Pro3Gln,ENST00000309447,NM_001144990.1;MIR4801,upstream_gene_variant,,ENST00000582704,;	A	ENST00000309447	Transcript	missense_variant	856/8325	8/5229	3/1742	P/Q	cCg/cAg		1		1	NWD2	HGNC	HGNC:29229	protein_coding	YES	CCDS47040.1	ENSP00000309501	Q9ULI1		UPI00006C0875	NM_001144990.1	deleterious_low_confidence(0.02)		1/7																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	37245075	37245075	C	A	1	0	0	0	0	1	0	0	0	10855	652	23	1		1	NWD2	4	37245075	Missense_Mutation	SNP	C	C3L-00144_TP	16514963	37245075	152969480	470	4749											
PDS5A	0	.	GRCh38	chr4	39863030	39863030	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacttcacaagtgccttaTgcagcttctgagcaaatatc	12	12	7	10	0	2	1	1	1	1	0	3	1	2	1	1	0	5	4	1	0	5	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2810A>G	p.His937Arg	p.H937R	ENST00000303538	25/33	221	196	25	166	166	0	strelka-mutect	PDS5A,missense_variant,p.His937Arg,ENST00000303538,NM_001100399.1;PDS5A,3_prime_UTR_variant,,ENST00000507020,;	C	ENST00000303538	Transcript	missense_variant	3350/7176	2810/4014	937/1337	H/R	cAt/cGt		1		-1	PDS5A	HGNC	HGNC:29088	protein_coding	YES	CCDS47045.1	ENSP00000303427	Q29RF7	G1UI16	UPI00006C6A7E	NM_001100399.1	deleterious(0.01)		25/33		Low_complexity_(Seg):seg,hmmpanther:PTHR12663:SF2,hmmpanther:PTHR12663,Gene3D:1.25.10.10																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	39863030	39863030	T	C	1	0	0	0	0	1	0	0	0	11779	1464	51	5		5	PDS5A	4	39863030	Missense_Mutation	SNP	T	C3L-00144_TP	2617955	39863030	150351525	471	4750											
BEND4	0	.	GRCh38	chr4	42151864	42151864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgacgaagcggcggcggCggcccggccgggcccggggg	4	0	22	15	10	0	0	0	0	0	0	0	3	0	0	3	8	1	0	3	8	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.280G>T	p.Ala94Ser	p.A94S	ENST00000502486	2/6	34	27	7	34	34	0	strelka-varscan-mutect	BEND4,missense_variant,p.Ala94Ser,ENST00000502486,NM_207406.3;BEND4,missense_variant,p.Ala90Ser,ENST00000504360,NM_001159547.1;BEND4,intron_variant,,ENST00000611697,;	A	ENST00000502486	Transcript	missense_variant	860/8765	280/1605	94/534	A/S	Gcc/Tcc		1		-1	BEND4	HGNC	HGNC:23815	protein_coding	YES	CCDS47048.1	ENSP00000421169	Q6ZU67		UPI00015386AF	NM_207406.3	tolerated_low_confidence(0.7)		2/6		Low_complexity_(Seg):seg,hmmpanther:PTHR35082																	MODERATE	1	SNV	1			1										PASS		rs1359953255	.												A	3	1	12	42151864	42151864	C	A	1	0	0	0	0	1	0	0	0	1548	768	27	1		1	BEND4	4	42151864	Missense_Mutation	SNP	C	C3L-00144_TP	2288834	42151864	148062691	472	4751											
YIPF7	0	.	GRCh38	chr4	44651552	44651552	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttagaaggatcagacacatAcctctgtttattttttatag	12	17	6	6	0	2	2	1	0	1	2	2	3	2	3	1	1	1	1	1	1	6	9	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.71+2T>A		p.X24_splice	ENST00000332990		57	52	5	58	58	0	strelka-varscan-mutect	YIPF7,splice_donor_variant,,ENST00000415895,;YIPF7,splice_donor_variant,,ENST00000332990,NM_182592.2;YIPF7,intron_variant,,ENST00000508947,;YIPF7,splice_donor_variant,,ENST00000510035,;YIPF7,splice_donor_variant,,ENST00000502794,;	T	ENST00000332990	Transcript	splice_donor_variant	-/937	71/843	24/280				1		-1	YIPF7	HGNC	HGNC:26825	protein_coding	YES	CCDS54766.1	ENSP00000332772	Q8N8F6		UPI00015347BF	NM_182592.2				1/5																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	12	44651552	44651552	A	T	1	0	0	0	0	0	0	1	0	18045	405	14	4		4	YIPF7	4	44651552	Splice_Site	SNP	A	C3L-00144_TP	2499688	44651552	145563003	473	4752											
GABRA2	0	.	GRCh38	chr4	46388650	46388650	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacctggcagggtcccaCaccaagaaaacaaaaagcag	16	4	8	13	0	1	1	1	0	1	1	3	1	2	1	3	2	2	2	3	2	5	0			C3L-00144_TP	C3L-00144_NB	C	C																c.57G>A	p.=	p.V19V	ENST00000510861	2/10	128	116	12	121	121	0	strelka-mutect	GABRA2,synonymous_variant,p.=,ENST00000507460,;GABRA2,synonymous_variant,p.=,ENST00000510861,;GABRA2,synonymous_variant,p.=,ENST00000514090,;GABRA2,synonymous_variant,p.=,ENST00000356504,NM_001114175.1;GABRA2,synonymous_variant,p.=,ENST00000381620,NM_000807.2;GABRA2,synonymous_variant,p.=,ENST00000515082,;GABRA2,synonymous_variant,p.=,ENST00000507069,;GABRA2,synonymous_variant,p.=,ENST00000503806,;GABRA2,synonymous_variant,p.=,ENST00000506961,;GABRA2,5_prime_UTR_variant,,ENST00000540012,NM_001286827.1;RP11-436F23.1,upstream_gene_variant,,ENST00000502455,;GABRA2,non_coding_transcript_exon_variant,,ENST00000509716,;GABRA2,synonymous_variant,p.=,ENST00000630416,;GABRA2,synonymous_variant,p.=,ENST00000510233,;GABRA2,synonymous_variant,p.=,ENST00000513005,;GABRA2,synonymous_variant,p.=,ENST00000514193,;	T	ENST00000510861	Transcript	synonymous_variant	231/3411	57/1356	19/451	V	gtG/gtA	COSM5293665	1		-1	GABRA2	HGNC	HGNC:4076	protein_coding	YES	CCDS3471.1	ENSP00000421828	P47869	A0A024R9X6	UPI000013DC88				2/10		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF218,Prints_domain:PR01615											1						LOW		SNV	5		1	1										PASS		.	.												T	2	4	12	46388650	46388650	C	T	1	0	0	0	0	0	0	0	1	6032	465	17	3		3	GABRA2	4	46388650	Silent	SNP	C	C3L-00144_TP	1737098	46388650	143825905	474	4753											
GABRB1	0	.	GRCh38	chr4	47425835	47425835	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcagccgcgaggcctaCgggcgcgccctggaccggca	6	3	16	16	6	0	1	0	1	0	0	0	3	0	2	4	4	3	2	4	4	1	1			C3L-00144_TP	C3L-00144_NB	C	C																c.1242C>A	p.Tyr414Ter	p.Y414*	ENST00000295454	9/9	140	114	26	129	129	0	strelka-varscan-mutect	GABRB1,stop_gained,p.Tyr414Ter,ENST00000295454,NM_000812.3;	A	ENST00000295454	Transcript	stop_gained	1534/2143	1242/1425	414/474	Y/*	taC/taA	COSM2848611	1		1	GABRB1	HGNC	HGNC:4081	protein_coding	YES	CCDS3474.1	ENSP00000295454	P18505	X5DNL6	UPI000012AFAC	NM_000812.3			9/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF429,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112											1						HIGH	1	SNV	1		1	1										PASS		rs1422494010	.												A	4	1	12	47425835	47425835	C	A	1	0	0	0	0	0	1	0	0	6037	547	19	1		1	GABRB1	4	47425835	Nonsense_Mutation	SNP	C	C3L-00144_TP	1037185	47425835	142788720	475	4754											
CWH43	0	.	GRCh38	chr4	49038137	49038137	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atatatcacttcagcacctgGctccagagattatctacagc	12	11	6	12	0	3	1	2	0	1	1	4	2	4	1	2	1	3	2	2	1	4	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1760G>C	p.Gly587Ala	p.G587A	ENST00000226432	13/16	163	150	13	142	142	0	strelka-varscan-mutect	CWH43,missense_variant,p.Gly587Ala,ENST00000226432,NM_025087.2;CWH43,missense_variant,p.Gly560Ala,ENST00000513409,NM_001286791.1;CWH43,3_prime_UTR_variant,,ENST00000514053,;	C	ENST00000226432	Transcript	missense_variant	1943/2472	1760/2100	587/699	G/A	gGc/gCc		1		1	CWH43	HGNC	HGNC:26133	protein_coding	YES	CCDS3486.1	ENSP00000226432	Q9H720		UPI000020BC89	NM_025087.2	deleterious(0.03)		13/16		hmmpanther:PTHR14859,hmmpanther:PTHR14859:SF1,Superfamily_domains:SSF56219																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	49038137	49038137	G	C	1	0	0	0	0	1	0	0	0	3883	1203	42	4		4	CWH43	4	49038137	Missense_Mutation	SNP	G	C3L-00144_TP	1612302	49038137	141176418	476	4755											
KIAA1211	0	.	GRCh38	chr4	56315887	56315887	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaaatttgccaaagacctCccgtctttccttgtcccaag	9	12	6	14	1	1	1	0	0	1	1	4	1	4	1	5	0	2	1	5	0	3	3	rs757540931		C3L-00144_TP	C3L-00144_NB	C	C																c.2385C>A	p.=	p.L795L	ENST00000504228	6/9	468	416	52	366	365	1	strelka-varscan-mutect	KIAA1211,synonymous_variant,p.=,ENST00000504228,;KIAA1211,synonymous_variant,p.=,ENST00000541073,;KIAA1211,synonymous_variant,p.=,ENST00000264229,NM_020722.1;KIAA1211,downstream_gene_variant,,ENST00000636006,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;MRPL22P1,downstream_gene_variant,,ENST00000505398,;	A	ENST00000504228	Transcript	synonymous_variant	2490/4628	2385/3702	795/1233	L	ctC/ctA	rs757540931,COSM4480073	1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309				6/9													0,1						LOW	1	SNV	5		0,1	1										PASS		rs757540931	.												A	2	1	12	56315887	56315887	C	A	1	0	0	0	0	0	0	0	1	8107	842	30	2		2	KIAA1211	4	56315887	Silent	SNP	C	C3L-00144_TP	7277750	56315887	133898668	477	4756											
EPHA5	0	.	GRCh38	chr4	65602286	65602286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcataattttcatccaCttcaccaatctcttcccact	10	13	4	14	0	3	0	2	0	1	0	6	0	5	0	3	2	0	1	3	2	2	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.265G>T	p.Val89Leu	p.V89L	ENST00000622150	3/18	57	46	11	57	57	0	strelka-varscan-mutect	EPHA5,missense_variant,p.Val89Leu,ENST00000622150,NM_001281765.1;EPHA5,missense_variant,p.Val89Leu,ENST00000613740,NM_001281766.1;EPHA5,missense_variant,p.Val89Leu,ENST00000273854,NM_004439.6;EPHA5,missense_variant,p.Val89Leu,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Val89Leu,ENST00000432638,;EPHA5,missense_variant,p.Val89Leu,ENST00000354839,NM_182472.3;	A	ENST00000622150	Transcript	missense_variant	1018/8421	265/3117	89/1038	V/L	Gtg/Ttg		1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1	tolerated(0.41)		3/18		Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17,SMART_domains:SM00615,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	65602286	65602286	C	A	1	0	0	0	0	1	0	0	0	5017	565	20	2		2	EPHA5	4	65602286	Missense_Mutation	SNP	C	C3L-00144_TP	9286399	65602286	124612269	478	4757											
UGT2B4	0	.	GRCh38	chr4	69480796	69480796	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgtgggctgcaacccgaagGtgcttggctcctttatggcg	5	11	14	11	3	0	0	0	0	0	0	2	1	1	0	2	4	3	4	2	4	3	3			C3L-00144_TP	C3L-00144_NB	G	G																c.1425C>T	p.=	p.H475H	ENST00000305107	6/6	378	306	72	414	414	0	strelka-varscan-mutect	UGT2B4,synonymous_variant,p.=,ENST00000305107,NM_021139.2;UGT2B4,3_prime_UTR_variant,,ENST00000512583,NM_001297615.1;UGT2B4,non_coding_transcript_exon_variant,,ENST00000506580,;UGT2B4,downstream_gene_variant,,ENST00000502655,;	A	ENST00000305107	Transcript	synonymous_variant	1472/2103	1425/1587	475/528	H	caC/caT	COSM4635152	1		-1	UGT2B4	HGNC	HGNC:12553	protein_coding	YES	CCDS43234.1	ENSP00000305221	P06133		UPI000000087F	NM_021139.2			6/6		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF198,Pfam_domain:PF00201											1						LOW	1	SNV	1		1	1										PASS		rs1365190372	.												A	2	1	12	69480796	69480796	G	A	1	0	0	0	0	0	0	0	1	17485	1252	44	3		3	UGT2B4	4	69480796	Silent	SNP	G	C3L-00144_TP	3878510	69480796	120733759	479	4758											
UGT2A1	0	.	GRCh38	chr4	69639360	69639360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttatcatatgctcaattaagGaatctatattgctcttcttg	11	18	5	7	0	5	0	2	0	3	0	5	1	5	1	0	1	2	2	0	1	7	8			C3L-00144_TP	C3L-00144_NB	G	G																c.884C>T	p.Ser295Phe	p.S295F	ENST00000514019	3/7	166	127	39	169	169	0	strelka-varscan-mutect	UGT2A1,missense_variant,p.Ser295Phe,ENST00000514019,NM_001252274.2;UGT2A2,missense_variant,p.Ser94Phe,ENST00000604629,NM_001105677.2;UGT2A2,missense_variant,p.Ser94Phe,ENST00000604021,NM_001301233.1;UGT2A1,intron_variant,,ENST00000503640,NM_006798.4;UGT2A1,intron_variant,,ENST00000512704,NM_001301239.1;UGT2A1,intron_variant,,ENST00000286604,NM_001252275.2;	A	ENST00000514019	Transcript	missense_variant	1000/2376	884/2082	295/693	S/F	tCc/tTc	COSM3605344,COSM5326501	1		-1	UGT2A1	HGNC	HGNC:12542	protein_coding	YES	CCDS58902.1	ENSP00000425497		A0A140T9Z0	UPI0004620AF5	NM_001252274.2	tolerated(0.07)		3/7		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF229,Superfamily_domains:SSF53756											1,1						MODERATE		SNV	2		1,1	1										PASS		.	.												A	3	1	12	69639360	69639360	G	A	1	0	0	0	0	1	0	0	0	17478	1174	41	3		3	UGT2A1	4	69639360	Missense_Mutation	SNP	G	C3L-00144_TP	158564	69639360	120575195	480	4759											
SULT1E1	0	.	GRCh38	chr4	69857549	69857549	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatctggtcttgcctggaaCgcttccacattatcccaata	9	13	6	13	1	3	0	1	0	2	0	5	1	5	1	3	2	2	1	3	2	4	4	rs138937330		C3L-00144_TP	C3L-00144_NB	C	C																c.96G>T	p.=	p.A32A	ENST00000226444	2/8	148	126	22	140	140	0	strelka-varscan-mutect	SULT1E1,synonymous_variant,p.=,ENST00000226444,NM_005420.2;SULT1E1,non_coding_transcript_exon_variant,,ENST00000504002,;	A	ENST00000226444	Transcript	synonymous_variant	209/1780	96/885	32/294	A	gcG/gcT	rs138937330,COSM4125719	1		-1	SULT1E1	HGNC	HGNC:11377	protein_coding	YES	CCDS3531.1	ENSP00000226444	P49888	Q53X91	UPI00000623C8	NM_005420.2			2/8		Gene3D:3.40.50.300,hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF53,Superfamily_domains:SSF52540											0,1						LOW	1	SNV	1		0,1	1										PASS		rs138937330	.												A	2	1	12	69857549	69857549	C	A	1	0	0	0	0	0	0	0	1	15766	523	19	1		1	SULT1E1	4	69857549	Silent	SNP	C	C3L-00144_TP	218189	69857549	120357006	481	4760											
NPFFR2	0	.	GRCh38	chr4	72147158	72147158	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaataaaaccagtccagtCtactggtgccgggaagactg	13	7	11	10	1	1	2	0	0	1	2	2	3	2	3	3	2	3	0	3	2	5	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.915C>A	p.=	p.V305V	ENST00000308744	4/4	121	96	25	124	124	0	strelka-varscan-mutect	NPFFR2,synonymous_variant,p.=,ENST00000308744,NM_004885.2;NPFFR2,synonymous_variant,p.=,ENST00000395999,NM_001144756.1;NPFFR2,synonymous_variant,p.=,ENST00000358749,NM_053036.2;NPFFR2,3_prime_UTR_variant,,ENST00000344413,;NPFFR2,non_coding_transcript_exon_variant,,ENST00000506359,;	A	ENST00000308744	Transcript	synonymous_variant	1013/1922	915/1569	305/522	V	gtC/gtA		1		1	NPFFR2	HGNC	HGNC:4525	protein_coding	YES	CCDS3551.1	ENSP00000307822	Q9Y5X5		UPI000012FFBD	NM_004885.2			4/4		PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF3,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	72147158	72147158	C	A	1	0	0	0	0	0	0	0	1	10626	900	32	2		2	NPFFR2	4	72147158	Silent	SNP	C	C3L-00144_TP	2289609	72147158	118067397	482	4761											
SCARB2	0	.	GRCh38	chr4	76175792	76175792	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctttaaagcttttaccTgcaaaagtcagatgggaaga	14	13	8	6	0	2	2	1	0	1	2	2	3	2	3	1	1	3	2	1	1	7	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.823A>T	p.Arg275Trp	p.R275W	ENST00000264896	6/12	232	170	62	249	249	0	strelka-varscan-mutect	SCARB2,missense_variant,p.Arg275Trp,ENST00000264896,NM_005506.3;SCARB2,missense_variant,p.Arg132Trp,ENST00000452464,NM_001204255.1;SCARB2,downstream_gene_variant,,ENST00000502908,;	A	ENST00000264896	Transcript	missense_variant,splice_region_variant	1173/4763	823/1437	275/478	R/W	Agg/Tgg		1		-1	SCARB2	HGNC	HGNC:1665	protein_coding	YES	CCDS3577.1	ENSP00000264896	Q14108	A0A024RDG6	UPI0000032D38	NM_005506.3	deleterious(0)		6/12		hmmpanther:PTHR11923:SF61,hmmpanther:PTHR11923,Pfam_domain:PF01130																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	76175792	76175792	T	A	1	0	0	0	0	1	0	0	0	14148	1594	55	4		4	SCARB2	4	76175792	Missense_Mutation	SNP	T	C3L-00144_TP	4028634	76175792	114038763	483	4762											
CCDC158	0	.	GRCh38	chr4	76331391	76331391	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagtggagtccctcaaCgagttgttgcttctgttggt	5	15	11	10	1	3	0	2	0	1	0	4	2	4	1	2	2	2	4	2	2	1	5	rs376345467		C3L-00144_TP	C3L-00144_NB	C	C																c.2883G>T	p.=	p.S961S	ENST00000388914	20/24	195	144	51	188	188	0	strelka-varscan-mutect	CCDC158,synonymous_variant,p.=,ENST00000388914,NM_001042784.1;CCDC158,non_coding_transcript_exon_variant,,ENST00000504667,;	A	ENST00000388914	Transcript	synonymous_variant	3036/3663	2883/3342	961/1113	S	tcG/tcT	rs376345467,COSM2151068	1		-1	CCDC158	HGNC	HGNC:26374	protein_coding	YES	CCDS43242.1	ENSP00000373566	Q5M9N0		UPI00004DF23B	NM_001042784.1			20/24		Pfam_domain:PF15921											0,1						LOW	1	SNV	5		0,1	1										PASS		rs376345467	.												A	2	1	12	76331391	76331391	C	A	1	0	0	0	0	0	0	0	1	2478	523	19	1		1	CCDC158	4	76331391	Silent	SNP	C	C3L-00144_TP	155599	76331391	113883164	484	4763											
GK2	0	.	GRCh38	chr4	79408046	79408046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttagggtcttgttccaccCatccttcttttgggaactct	5	17	7	12	0	3	0	0	0	3	0	5	1	5	1	3	2	1	1	3	2	2	7	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.155G>T	p.Trp52Leu	p.W52L	ENST00000358842	1/1	133	108	25	120	120	0	strelka-varscan-mutect	GK2,missense_variant,p.Trp52Leu,ENST00000358842,NM_033214.2;	A	ENST00000358842	Transcript	missense_variant	248/1942	155/1662	52/553	W/L	tGg/tTg		1		-1	GK2	HGNC	HGNC:4291	protein_coding	YES	CCDS3585.1	ENSP00000351706	Q14410	A0A140VKG0	UPI000011E629	NM_033214.2	deleterious(0)		1/1		hmmpanther:PTHR10196:SF46,hmmpanther:PTHR10196,TIGRFAM_domain:TIGR01311,Pfam_domain:PF00370,Gene3D:3.30.420.40,PIRSF_domain:PIRSF000538,Superfamily_domains:SSF53067																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	12	79408046	79408046	C	A	1	0	0	0	0	1	0	0	0	6299	595	21	2		2	GK2	4	79408046	Missense_Mutation	SNP	C	C3L-00144_TP	3076655	79408046	110806509	485	4764											
SNCA	0	.	GRCh38	chr4	89822298	89822298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgctgcaatgctccctGctccctccactgtcttctgg	3	13	9	16	0	2	0	0	0	2	0	5	0	5	0	3	2	4	5	3	2	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.254C>A	p.Ala85Glu	p.A85E	ENST00000336904	4/6	356	271	85	382	381	1	strelka-varscan-mutect	SNCA,missense_variant,p.Ala71Glu,ENST00000394989,;SNCA,missense_variant,p.Ala85Glu,ENST00000420646,NM_007308.2;SNCA,missense_variant,p.Ala85Glu,ENST00000336904,NM_001146055.1;SNCA,missense_variant,p.Ala71Glu,ENST00000618500,;SNCA,missense_variant,p.Ala85Glu,ENST00000394986,NM_001146054.1;SNCA,missense_variant,p.Ala85Glu,ENST00000394991,NM_000345.3;SNCA,missense_variant,p.Ala85Glu,ENST00000345009,;SNCA,missense_variant,p.Ala85Glu,ENST00000508895,;SNCA,missense_variant,p.Ala85Glu,ENST00000502987,;SNCA,missense_variant,p.Ala85Glu,ENST00000506244,;SNCA,missense_variant,p.Ala71Glu,ENST00000505199,;SNCA,missense_variant,p.Ala71Glu,ENST00000611107,;SNCA,downstream_gene_variant,,ENST00000506691,;	T	ENST00000336904	Transcript	missense_variant	343/3041	254/423	85/140	A/E	gCa/gAa		1		-1	SNCA	HGNC	HGNC:11138	protein_coding	YES	CCDS3634.1	ENSP00000338345	P37840		UPI000003173B	NM_001146055.1	deleterious(0)		4/6		Superfamily_domains:0053543,Gene3D:1xq8A00,Pfam_domain:PF01387,Prints_domain:PR01211,hmmpanther:PTHR13820,hmmpanther:PTHR13820:SF5																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	89822298	89822298	G	T	1	0	0	0	0	1	0	0	0	15161	1319	46	2		2	SNCA	4	89822298	Missense_Mutation	SNP	G	C3L-00144_TP	10414252	89822298	100392257	486	4765											
SMARCAD1	0	.	GRCh38	chr4	94285021	94285021	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaatccatgctaaaaattAaccaacagaaattgaaacta	22	8	4	7	0	0	3	0	1	0	2	1	3	1	3	2	0	4	1	2	0	10	4	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2977A>T	p.Asn993Tyr	p.N993Y	ENST00000359052	23/24	175	128	47	209	209	0	strelka-varscan-mutect	SMARCAD1,missense_variant,p.Asn993Tyr,ENST00000359052,NM_001128430.1;SMARCAD1,missense_variant,p.Asn991Tyr,ENST00000354268,NM_020159.4;SMARCAD1,missense_variant,p.Asn993Tyr,ENST00000457823,NM_001128429.2;SMARCAD1,missense_variant,p.Asn561Tyr,ENST00000509418,NM_001254949.1;SMARCAD1,3_prime_UTR_variant,,ENST00000394961,;	T	ENST00000359052	Transcript	missense_variant	3151/5017	2977/3087	993/1028	N/Y	Aac/Tac		1		1	SMARCAD1	HGNC	HGNC:18398	protein_coding	YES	CCDS47101.1	ENSP00000351947	Q9H4L7		UPI000020B1CF	NM_001128430.1	deleterious(0.02)		23/24		PROSITE_profiles:PS51194,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	94285021	94285021	A	T	1	0	0	0	0	1	0	0	0	15065	362	13	4		4	SMARCAD1	4	94285021	Missense_Mutation	SNP	A	C3L-00144_TP	4462723	94285021	95929534	487	4766											
ADH1B	0	.	GRCh38	chr4	99318044	99318044	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccctgagtgtgaatcctgtAcctggtttgactgtagtcac	7	14	10	10	0	1	3	1	3	0	0	3	3	3	3	3	1	1	3	3	1	3	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.259+2T>C		p.X87_splice	ENST00000305046		125	93	32	126	126	0	varscan-mutect	ADH1B,splice_donor_variant,,ENST00000305046,NM_000668.5;ADH1B,splice_donor_variant,,ENST00000625860,;ADH1B,splice_donor_variant,,ENST00000506651,NM_001286650.1;ADH1B,splice_donor_variant,,ENST00000515694,;ADH1B,non_coding_transcript_exon_variant,,ENST00000632775,;ADH1B,non_coding_transcript_exon_variant,,ENST00000504498,;	G	ENST00000305046	Transcript	splice_donor_variant	-/4072	259/1128	87/375				1		-1	ADH1B	HGNC	HGNC:250	protein_coding	YES	CCDS34033.1	ENSP00000306606	P00325	V9HW50	UPI00001699B5	NM_000668.5				3/8																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	12	99318044	99318044	A	G	1	0	0	0	0	0	0	1	0	381	405	14	5		5	ADH1B	4	99318044	Splice_Site	SNP	A	C3L-00144_TP	5033023	99318044	90896511	488	4767											
RP11-766F14.2	0	.	GRCh38	chr4	99650260	99650260	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taattctcacagtcactgttGctcttctccaaattgctgcc	8	15	5	13	0	4	0	2	0	3	0	6	0	4	0	2	0	3	3	2	0	2	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.4389C>T	p.=	p.S1463S	ENST00000511828	1/2	215	197	18	205	205	0	strelka-varscan-mutect	RP11-766F14.2,synonymous_variant,p.=,ENST00000511828,;	A	ENST00000511828	Transcript	synonymous_variant	4389/10086	4389/5382	1463/1793	S	agC/agT		1		-1	RP11-766F14.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000427555		D6RIA3	UPI0001D3B6FE				1/2																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	99650260	99650260	G	A	1	0	0	0	0	0	0	0	1	13762	1310	46	3		3	RP11-766F14.2	4	99650260	Silent	SNP	G	C3L-00144_TP	332216	99650260	90564295	489	4768											
RP11-766F14.2	0	.	GRCh38	chr4	99651221	99651221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacagggatccagatccgCcagctgctgcagacagctgc	9	5	14	13	1	0	2	0	0	0	2	2	4	2	4	3	2	5	4	3	2	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3428G>C	p.Gly1143Ala	p.G1143A	ENST00000511828	1/2	142	106	36	147	147	0	strelka-varscan-mutect	RP11-766F14.2,missense_variant,p.Gly1143Ala,ENST00000511828,;	G	ENST00000511828	Transcript	missense_variant	3428/10086	3428/5382	1143/1793	G/A	gGc/gCc		1		-1	RP11-766F14.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000427555		D6RIA3	UPI0001D3B6FE		tolerated(0.4)		1/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	99651221	99651221	C	G	1	0	0	0	0	1	0	0	0	13762	739	26	4		4	RP11-766F14.2	4	99651221	Missense_Mutation	SNP	C	C3L-00144_TP	961	99651221	90563334	490	4769											
PPP3CA	0	.	GRCh38	chr4	101026002	101026002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctctcattaattcggtCtaagcccttggcttcctcga	7	14	6	14	2	2	0	1	0	2	0	7	1	4	0	3	2	1	1	3	2	2	5			C3L-00144_TP	C3L-00144_NB	C	C																c.1429G>T	p.Asp477Tyr	p.D477Y	ENST00000394854	14/14	182	146	36	194	194	0	strelka-varscan-mutect	PPP3CA,missense_variant,p.Asp477Tyr,ENST00000394854,NM_000944.4;PPP3CA,missense_variant,p.Asp425Tyr,ENST00000323055,NM_001130692.1;PPP3CA,missense_variant,p.Asp245Tyr,ENST00000512215,;PPP3CA,missense_variant,p.Asp467Tyr,ENST00000394853,NM_001130691.1;PPP3CA,missense_variant,p.Asp379Tyr,ENST00000507176,;	A	ENST00000394854	Transcript	missense_variant	2113/4685	1429/1566	477/521	D/Y	Gac/Tac	COSM336205,COSM5289767	1		-1	PPP3CA	HGNC	HGNC:9314	protein_coding	YES	CCDS34037.1	ENSP00000378323	Q08209	A0A0S2Z4C6	UPI0000110660	NM_000944.4	deleterious(0)		14/14		Superfamily_domains:SSF56300											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	12	101026002	101026002	C	A	1	0	0	0	0	1	0	0	0	12519	913	32	2		2	PPP3CA	4	101026002	Missense_Mutation	SNP	C	C3L-00144_TP	1374781	101026002	89188553	491	4770											
TACR3	0	.	GRCh38	chr4	103719624	103719624	+	Missense_Mutation	SNP	C	C	A																															caggttcacggcgtctgcacCcacgcctccacccccgtcta																										C3L-00144_TP	C3L-00144_NB	C	C																c.52G>T	p.Gly18Cys	p.G18C	ENST00000304883	1/5	90	65	25	81	81	0	strelka-varscan-mutect	TACR3,missense_variant,p.Gly18Cys,ENST00000304883,NM_001059.2;	A	ENST00000304883	Transcript	missense_variant	193/5190	52/1398	18/465	G/C	Ggt/Tgt	COSM732054	1		-1	TACR3	HGNC	HGNC:11528	protein_coding	YES	CCDS3664.1	ENSP00000303325	P29371		UPI0000050413	NM_001059.2	deleterious_low_confidence(0.01)		1/5		Prints_domain:PR01026,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	103719624	103719624	C	A	1	0	0	0	0	1	0	0	0	15903	623	22	2		2	TACR3	4	103719624	Missense_Mutation	SNP	C	C3L-00144_TP	2693622	103719624	86494931	492	4771	108	2									
TACR3	0	.	GRCh38	chr4	103719625	103719625	+	Silent	SNP	C	C	A																															aggttcacggcgtctgcaccCacgcctccacccccgtctat																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.51G>T	p.=	p.V17V	ENST00000304883	1/5	92	66	26	85	85	0	strelka-varscan-mutect	TACR3,synonymous_variant,p.=,ENST00000304883,NM_001059.2;	A	ENST00000304883	Transcript	synonymous_variant	192/5190	51/1398	17/465	V	gtG/gtT		1		-1	TACR3	HGNC	HGNC:11528	protein_coding	YES	CCDS3664.1	ENSP00000303325	P29371		UPI0000050413	NM_001059.2			1/5		Prints_domain:PR01026,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1293984628	.												A	2	1	12	103719625	103719625	C	A	1	0	0	0	0	0	0	0	1	15903	581	21	2		2	TACR3	4	103719625	Silent	SNP	C	C3L-00144_TP	1	103719625	86494930	493	4772	108	2									
TBCK	0	.	GRCh38	chr4	106171255	106171255	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatagattctctcacacagCgttcaatgtcaatttctaga	12	14	6	9	1	5	3	3	1	2	2	6	3	5	3	0	0	1	1	0	0	4	5	rs376380860		C3L-00144_TP	C3L-00144_NB	C	C																c.2075G>T	p.Arg692Leu	p.R692L	ENST00000273980	24/27	187	153	34	223	222	1	strelka-varscan-mutect	TBCK,missense_variant,p.Arg692Leu,ENST00000273980,;TBCK,missense_variant,p.Arg692Leu,ENST00000432496,NM_001163436.2;TBCK,missense_variant,p.Arg653Leu,ENST00000394706,NM_001163437.2;TBCK,missense_variant,p.Arg629Leu,ENST00000361687,NM_033115.4,NM_001290768.1;TBCK,missense_variant,p.Arg692Leu,ENST00000394708,NM_001163435.2;TBCK,non_coding_transcript_exon_variant,,ENST00000514689,;TBCK,non_coding_transcript_exon_variant,,ENST00000515705,;TBCK,non_coding_transcript_exon_variant,,ENST00000511011,;TBCK,upstream_gene_variant,,ENST00000506384,;TBCK,3_prime_UTR_variant,,ENST00000467183,;TBCK,non_coding_transcript_exon_variant,,ENST00000510927,;	A	ENST00000273980	Transcript	missense_variant	2523/8101	2075/2682	692/893	R/L	cGc/cTc	rs376380860,COSM1426252	1		-1	TBCK	HGNC	HGNC:28261	protein_coding	YES	CCDS54788.1	ENSP00000273980	Q8TEA7		UPI000013EF70		tolerated(0.25)		24/27		hmmpanther:PTHR22957:SF168,hmmpanther:PTHR22957,Superfamily_domains:SSF47923											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs376380860	.												A	3	1	12	106171255	106171255	C	A	1	0	0	0	0	1	0	0	0	16041	768	27	1		1	TBCK	4	106171255	Missense_Mutation	SNP	C	C3L-00144_TP	2451630	106171255	84043300	494	4773											
LEF1	0	.	GRCh38	chr4	108070769	108070769	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacgggagagggcatgcCactaaaacagagaggaagga	15	4	14	8	1	1	2	1	0	0	2	1	6	1	4	1	4	2	1	1	4	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1010G>A	p.Trp337Ter	p.W337*	ENST00000265165	9/12	143	103	40	115	115	0	strelka-varscan-mutect	LEF1,stop_gained,p.Trp309Ter,ENST00000379951,NM_001130714.2;LEF1,stop_gained,p.Trp337Ter,ENST00000265165,NM_016269.4;LEF1,stop_gained,p.Trp309Ter,ENST00000438313,NM_001130713.2;LEF1,stop_gained,p.Trp241Ter,ENST00000510624,NM_001166119.1;LEF1,splice_region_variant,,ENST00000503879,;LEF1,splice_region_variant,,ENST00000504426,;LEF1,splice_region_variant,,ENST00000510135,;LEF1,splice_region_variant,,ENST00000509428,;LEF1,splice_region_variant,,ENST00000505379,;LEF1,splice_region_variant,,ENST00000514444,;LEF1,splice_region_variant,,ENST00000505297,;LEF1,splice_region_variant,,ENST00000504775,;LEF1,splice_region_variant,,ENST00000512407,;LEF1,splice_region_variant,,ENST00000506680,;LEF1,splice_region_variant,,ENST00000505328,;LEF1,non_coding_transcript_exon_variant,,ENST00000507470,;	T	ENST00000265165	Transcript	stop_gained,splice_region_variant	1665/3068	1010/1200	337/399	W/*	tGg/tAg		1		-1	LEF1	HGNC	HGNC:6551	protein_coding	YES	CCDS3679.1	ENSP00000265165	Q9UJU2	A0A024RDI7	UPI0000052242	NM_016269.4			9/12		PROSITE_profiles:PS50118,hmmpanther:PTHR10373,Pfam_domain:PF00505,Gene3D:1.10.30.10,SMART_domains:SM00398,Superfamily_domains:SSF47095																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	108070769	108070769	C	T	1	0	0	0	0	0	1	0	0	8622	608	21	3		3	LEF1	4	108070769	Nonsense_Mutation	SNP	C	C3L-00144_TP	1899514	108070769	82143786	495	4774											
ZGRF1	0	.	GRCh38	chr4	112558258	112558258	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttttcaaacagctgtacaAagaacaaaatcaccactgcc	16	9	4	12	0	3	1	2	0	1	1	3	1	3	1	2	0	5	2	2	0	6	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.5012T>A	p.Phe1671Tyr	p.F1671Y	ENST00000505019	20/28	122	87	35	111	111	0	strelka-varscan-mutect	ZGRF1,missense_variant,p.Phe1671Tyr,ENST00000505019,NM_018392.4;ZGRF1,missense_variant,p.Phe1671Tyr,ENST00000445203,;ZGRF1,5_prime_UTR_variant,,ENST00000612287,;ZGRF1,missense_variant,p.Phe569Tyr,ENST00000445413,;ZGRF1,non_coding_transcript_exon_variant,,ENST00000506675,;ZGRF1,downstream_gene_variant,,ENST00000473015,;	T	ENST00000505019	Transcript	missense_variant	5138/6652	5012/6315	1671/2104	F/Y	tTt/tAt		1		-1	ZGRF1	HGNC	HGNC:25654	protein_coding	YES	CCDS3700.2	ENSP00000424737	Q86YA3		UPI0000EE2F8F	NM_018392.4	deleterious(0.03)		20/28		Gene3D:3.40.50.300,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF325,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	112558258	112558258	A	T	1	0	0	0	0	1	0	0	0	18253	14	1	4		4	ZGRF1	4	112558258	Missense_Mutation	SNP	A	C3L-00144_TP	4487489	112558258	77656297	496	4775											
TRPC3	0	.	GRCh38	chr4	121914845	121914845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagggccacgaccagcaCaacgagacacttgatagcta	13	4	10	14	2	0	2	0	1	0	1	0	4	0	2	3	1	3	2	3	1	3	3	rs758648981		C3L-00144_TP	C3L-00144_NB	C	C																c.1276G>T	p.Val426Leu	p.V426L	ENST00000379645	4/12	145	109	36	138	138	0	strelka-varscan-mutect	TRPC3,missense_variant,p.Val353Leu,ENST00000264811,NM_003305.2;TRPC3,missense_variant,p.Val426Leu,ENST00000379645,NM_001130698.1;TRPC3,intron_variant,,ENST00000513531,;TRPC3,3_prime_UTR_variant,,ENST00000506449,;	A	ENST00000379645	Transcript	missense_variant	1350/3548	1276/2766	426/921	V/L	Gtg/Ttg	rs758648981	1		-1	TRPC3	HGNC	HGNC:12335	protein_coding	YES	CCDS47130.1	ENSP00000368966	Q13507		UPI00004C6F61	NM_001130698.1	tolerated(0.07)		4/12		hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs758648981	.												A	3	1	12	121914845	121914845	C	A	1	0	0	0	0	1	0	0	0	17084	478	17	2		2	TRPC3	4	121914845	Missense_Mutation	SNP	C	C3L-00144_TP	9356587	121914845	68299710	497	4776											
PCDH10	0	.	GRCh38	chr4	133152709	133152709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacccctgcggggccatcGtcaccggttacaccgaccag	9	5	10	17	4	1	0	1	0	0	0	2	1	1	0	6	3	3	1	6	3	2	1			C3L-00144_TP	C3L-00144_NB	G	G																c.2569G>T	p.Val857Phe	p.V857F	ENST00000264360	1/5	262	212	50	235	234	1	strelka-varscan-mutect	PCDH10,missense_variant,p.Val857Phe,ENST00000264360,NM_032961.2;PCDH10,missense_variant,p.Val857Phe,ENST00000618019,NM_020815.2;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;PCDH10,upstream_gene_variant,,ENST00000511112,;	T	ENST00000264360	Transcript	missense_variant	3395/8489	2569/3123	857/1040	V/F	Gtc/Ttc	COSM3010532	1		1	PCDH10	HGNC	HGNC:13404	protein_coding	YES	CCDS34063.1	ENSP00000264360	Q9P2E7	X5D999	UPI0000161C61	NM_032961.2	tolerated(0.48)		1/5		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF0											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	12	133152709	133152709	G	T	1	0	0	0	0	1	0	0	0	11594	1145	40	1		1	PCDH10	4	133152709	Missense_Mutation	SNP	G	C3L-00144_TP	11237864	133152709	57061846	498	4777											
RAB33B	0	.	GRCh38	chr4	139472703	139472703	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatccagctatgggacacAgcaggacaagaacgattcag	15	6	11	9	1	1	2	1	0	0	2	2	5	2	4	1	2	3	2	1	2	4	3			C3L-00144_TP	C3L-00144_NB	A	A																c.267A>G	p.=	p.T89T	ENST00000305626	2/2	66	51	15	68	68	0	strelka-varscan-mutect	RAB33B,synonymous_variant,p.=,ENST00000305626,NM_031296.1;	G	ENST00000305626	Transcript	synonymous_variant	656/4562	267/690	89/229	T	acA/acG	COSM732538	1		1	RAB33B	HGNC	HGNC:16075	protein_coding	YES	CCDS3747.1	ENSP00000306496	Q9H082		UPI000000123D	NM_031296.1			2/2		PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF378,hmmpanther:PTHR24073,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449											1						LOW	1	SNV	1		1	1										PASS		.	.												G	2	3	12	139472703	139472703	A	G	1	0	0	0	0	0	0	0	1	13082	175	7	5		5	RAB33B	4	139472703	Silent	SNP	A	C3L-00144_TP	6319994	139472703	50741852	499	4778											
MAML3	0	.	GRCh38	chr4	139889836	139889836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggctatttggtttttctgCagtaaaagctgctccatatg	8	16	10	7	0	1	0	0	0	1	0	2	0	2	0	1	2	3	6	1	2	4	6	rs745581763		C3L-00144_TP	C3L-00144_NB	C	C																c.1600G>C	p.Ala534Pro	p.A534P	ENST00000509479	2/5	242	184	58	243	243	0	strelka-varscan-mutect	MAML3,missense_variant,p.Ala534Pro,ENST00000509479,NM_018717.4;MAML3,missense_variant,p.Ala62Pro,ENST00000398940,;MAML3,intron_variant,,ENST00000502696,;	G	ENST00000509479	Transcript	missense_variant	2457/6844	1600/3417	534/1138	A/P	Gca/Cca	rs745581763	1		-1	MAML3	HGNC	HGNC:16272	protein_coding	YES	CCDS54805.1	ENSP00000421180	Q96JK9		UPI00001C1E1E	NM_018717.4	tolerated(0.32)		2/5		hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF8																	MODERATE	1	SNV	1			1										PASS		rs745581763	.												G	3	3	12	139889836	139889836	C	G	1	0	0	0	0	1	0	0	0	9128	710	25	4		4	MAML3	4	139889836	Missense_Mutation	SNP	C	C3L-00144_TP	417133	139889836	50324719	500	4779											
SCOC	0	.	GRCh38	chr4	140373643	140373643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggagtgggcggagctgccGgggtcagttggtccaagtgt	5	8	20	8	3	1	0	1	0	0	0	2	2	2	2	2	6	2	2	2	6	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.107G>T	p.Arg36Leu	p.R36L	ENST00000608372	1/4	287	187	100	296	295	1	strelka-varscan-mutect	SCOC,missense_variant,p.Arg36Leu,ENST00000608372,;SCOC,missense_variant,p.Arg36Leu,ENST00000614192,NM_001153484.1,NM_001153663.1;SCOC,missense_variant,p.Arg36Leu,ENST00000506597,NM_001153552.1;SCOC,5_prime_UTR_variant,,ENST00000394201,;SCOC,intron_variant,,ENST00000394203,NM_001153585.1;SCOC,intron_variant,,ENST00000394205,NM_032547.2;SCOC,intron_variant,,ENST00000338517,NM_001153635.1,NM_001153446.1;SCOC,intron_variant,,ENST00000512749,;SCOC,intron_variant,,ENST00000506322,;SCOC,upstream_gene_variant,,ENST00000510586,;SCOC,upstream_gene_variant,,ENST00000502535,;SCOC-AS1,upstream_gene_variant,,ENST00000512692,;SCOC-AS1,upstream_gene_variant,,ENST00000608178,;SCOC-AS1,upstream_gene_variant,,ENST00000609616,;	T	ENST00000608372	Transcript	missense_variant	134/5129	107/480	36/159	R/L	cGg/cTg		1		1	SCOC	HGNC	HGNC:20335	protein_coding	YES	CCDS54806.1	ENSP00000477352	Q9UIL1		UPI0000E5AC43		tolerated_low_confidence(0.07)		1/4		hmmpanther:PTHR21614																	MODERATE	1	SNV	1			1										PASS		rs1310272627	.												T	3	4	12	140373643	140373643	G	T	1	0	0	0	0	1	0	0	0	14202	1116	39	1		1	SCOC	4	140373643	Missense_Mutation	SNP	G	C3L-00144_TP	483807	140373643	49840912	501	4780											
CLGN	0	.	GRCh38	chr4	140410608	140410608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatacttctcctataggttGaggtgtcttatatttaatct	10	19	6	6	0	3	1	0	1	3	0	4	1	3	1	1	2	1	1	1	2	7	10	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.163C>A	p.Gln55Lys	p.Q55K	ENST00000325617	3/15	182	141	41	224	221	3	strelka-varscan-mutect	CLGN,missense_variant,p.Gln55Lys,ENST00000325617,NM_004362.2;CLGN,missense_variant,p.Gln55Lys,ENST00000414773,NM_001130675.1;CLGN,missense_variant,p.Gln55Lys,ENST00000509477,;	T	ENST00000325617	Transcript	missense_variant	604/3043	163/1833	55/610	Q/K	Caa/Aaa		1		-1	CLGN	HGNC	HGNC:2060	protein_coding	YES	CCDS3751.1	ENSP00000326699	O14967	A0A140VKG2	UPI0000126E4A	NM_004362.2	tolerated(0.94)		3/15		hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF7,Gene3D:2.60.120.200,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	140410608	140410608	G	T	1	0	0	0	0	1	0	0	0	3292	1299	45	2		2	CLGN	4	140410608	Missense_Mutation	SNP	G	C3L-00144_TP	36965	140410608	49803947	502	4781											
MGAT4D	0	.	GRCh38	chr4	140498209	140498209	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgatcagcaagttcaccTgcttggtcctcatggccctg	6	11	12	12	0	3	1	3	1	0	0	4	1	4	1	3	3	2	3	3	3	1	2	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.14A>T	p.Gln5Leu	p.Q5L	ENST00000511113	1/11	154	114	40	136	136	0	strelka-varscan-mutect	MGAT4D,missense_variant,p.Gln5Leu,ENST00000515354,;MGAT4D,missense_variant,p.Gln5Leu,ENST00000503109,;MGAT4D,missense_variant,p.Gln5Leu,ENST00000511113,NM_001277353.1;MGAT4D,missense_variant,p.Gln5Leu,ENST00000515402,;MGAT4D,non_coding_transcript_exon_variant,,ENST00000511632,;MGAT4D,non_coding_transcript_exon_variant,,ENST00000509091,;RP11-542P2.2,upstream_gene_variant,,ENST00000624981,;MGAT4D,missense_variant,p.Gln5Leu,ENST00000515121,;MGAT4D,non_coding_transcript_exon_variant,,ENST00000513106,;	A	ENST00000511113	Transcript	missense_variant	14/1125	14/1125	5/374	Q/L	cAg/cTg		1		-1	MGAT4D	HGNC	HGNC:43619	protein_coding	YES	CCDS64066.1	ENSP00000421185	A6NG13		UPI0001BFFEBB	NM_001277353.1	tolerated(0.15)		1/11		PROSITE_profiles:PS51257,hmmpanther:PTHR12062,hmmpanther:PTHR12062:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	140498209	140498209	T	A	1	0	0	0	0	1	0	0	0	9508	1580	55	4		4	MGAT4D	4	140498209	Missense_Mutation	SNP	T	C3L-00144_TP	87601	140498209	49716346	503	4782											
RNF175	0	.	GRCh38	chr4	153712576	153712576	+	Frame_Shift_Del	DEL	G	G	-																															cggatgcagaattcatgaaaGctgaagcatcttgttaggga																								rs201149369		C3L-00144_TP	C3L-00144_NB	G	G																c.765delC	p.His257MetfsTer26	p.H257Mfs*26	ENST00000347063	8/9	106	74	32	110	110	0	sindel-varindel-pindel	RNF175,frameshift_variant,p.His257MetfsTer26,ENST00000347063,NM_173662.2;RNF175,splice_region_variant,,ENST00000513656,;RNF175,downstream_gene_variant,,ENST00000503694,;	-	ENST00000347063	Transcript	frameshift_variant,splice_region_variant	1138/1604	765/987	255/328	V/X	gtC/gt	rs201149369	1		-1	RNF175	HGNC	HGNC:27735	protein_coding	YES	CCDS47149.1	ENSP00000340979	Q8N4F7		UPI0001AE7525	NM_173662.2			8/9		PROSITE_profiles:PS50089,hmmpanther:PTHR13407:SF2,hmmpanther:PTHR13407,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	12	153712576	153712576	G	-	1	0	1	0	1	0	0	0	0	13640	985	34	0		0	RNF175	4	153712576	Frame_Shift_Del	DEL	G	C3L-00144_TP	13214367	153712576	36501979	504	4783											
DCHS2	0	.	GRCh38	chr4	154235331	154235331	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatgctcatttatcctctgGatttccttatcttctgcagt	6	18	7	10	0	4	0	1	0	3	0	6	2	6	2	2	2	2	2	2	2	2	5	rs760003334		C3L-00144_TP	C3L-00144_NB	G	G																c.7956C>A	p.=	p.I2652I	ENST00000623607	25/25	152	118	34	185	185	0	strelka-varscan-mutect	DCHS2,synonymous_variant,p.=,ENST00000357232,;DCHS2,synonymous_variant,p.=,ENST00000623607,NM_017639.3;RP11-290O12.2,intron_variant,,ENST00000624941,;RP11-290O12.2,intron_variant,,ENST00000623325,;RP11-9N12.2,upstream_gene_variant,,ENST00000625026,;	T	ENST00000623607	Transcript	synonymous_variant	7956/8912	7956/8751	2652/2916	I	atC/atA	rs760003334,COSM3128713	1		-1	DCHS2	HGNC	HGNC:23111	protein_coding	YES	CCDS3785.1	ENSP00000485514	Q6V1P9		UPI000035B018	NM_017639.3			25/25		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF305											0,1						LOW	1	SNV	1		0,1	1										PASS		rs760003334	.												T	2	4	12	154235331	154235331	G	T	1	0	0	0	0	0	0	0	1	4091	1164	41	2		2	DCHS2	4	154235331	Silent	SNP	G	C3L-00144_TP	522755	154235331	35979224	505	4784											
DCHS2	0	.	GRCh38	chr4	154366330	154366330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attgatgatctcggtgcctgGctgggtctcatcactgatgc	6	13	12	10	1	3	3	2	3	2	0	5	3	3	3	1	3	2	1	1	3	0	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.574C>A	p.Pro192Thr	p.P192T	ENST00000623607	5/25	394	308	86	383	382	1	strelka-varscan-mutect	DCHS2,missense_variant,p.Pro192Thr,ENST00000357232,;DCHS2,missense_variant,p.Pro192Thr,ENST00000623607,NM_017639.3;DCHS2,missense_variant,p.Pro786Thr,ENST00000339452,NM_001142552.1;	T	ENST00000623607	Transcript	missense_variant	574/8912	574/8751	192/2916	P/T	Cca/Aca		1		-1	DCHS2	HGNC	HGNC:23111	protein_coding	YES	CCDS3785.1	ENSP00000485514	Q6V1P9		UPI000035B018	NM_017639.3	tolerated(0.07)		5/25		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	154366330	154366330	G	T	1	0	0	0	0	1	0	0	0	4091	1203	42	2		2	DCHS2	4	154366330	Missense_Mutation	SNP	G	C3L-00144_TP	130999	154366330	35848225	506	4785											
FGA	0	.	GRCh38	chr4	154589504	154589504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgatgtctttccacaaccCttgggccacgcacgcctcct	7	11	7	16	2	1	1	0	1	1	0	3	1	3	1	5	1	1	1	5	1	1	3			C3L-00144_TP	C3L-00144_NB	C	C																c.113G>T	p.Arg38Met	p.R38M	ENST00000302053	2/6	442	330	112	467	467	0	strelka-varscan-mutect	FGA,missense_variant,p.Arg38Met,ENST00000302053,NM_000508.3;FGA,missense_variant,p.Arg38Met,ENST00000403106,NM_021871.2;FGA,missense_variant,p.Arg38Met,ENST00000622532,;	A	ENST00000302053	Transcript	missense_variant	192/3678	113/2601	38/866	R/M	aGg/aTg	COSM5652974,COSM5652975	1		-1	FGA	HGNC	HGNC:3661	protein_coding	YES	CCDS3787.1	ENSP00000306361	P02671		UPI000012A75A	NM_000508.3	deleterious(0)		2/6		Low_complexity_(Seg):seg											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												A	3	1	12	154589504	154589504	C	A	1	0	0	0	0	1	0	0	0	5694	681	24	2		2	FGA	4	154589504	Missense_Mutation	SNP	C	C3L-00144_TP	223174	154589504	35625051	507	4786											
GRIA2	0	.	GRCh38	chr4	157312699	157312699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttatcaacactgcaagctGtgctggattctgctgctgaa	9	12	10	10	0	2	1	1	1	1	0	2	2	2	2	0	1	6	6	0	1	4	2	rs144288333		C3L-00144_TP	C3L-00144_NB	G	G																c.490G>T	p.Val164Leu	p.V164L	ENST00000296526	4/16	41	35	6	52	52	0	strelka-varscan-mutect	GRIA2,missense_variant,p.Val164Leu,ENST00000296526,NM_000826.3;GRIA2,missense_variant,p.Val117Leu,ENST00000393815,NM_001083620.1;GRIA2,missense_variant,p.Val164Leu,ENST00000264426,NM_001083619.1;GRIA2,missense_variant,p.Val117Leu,ENST00000507898,;GRIA2,missense_variant,p.Val117Leu,ENST00000505888,;GRIA2,missense_variant,p.Val37Leu,ENST00000503437,;GRIA2,missense_variant,p.Val117Leu,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	T	ENST00000296526	Transcript	missense_variant	815/5621	490/2652	164/883	V/L	Gtg/Ttg	rs144288333	1		1	GRIA2	HGNC	HGNC:4572	protein_coding	YES	CCDS3797.1	ENSP00000296526	P42262		UPI000002AA8D	NM_000826.3	tolerated(0.44)		4/16		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF206,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		rs144288333	.												T	3	4	12	157312699	157312699	G	T	1	0	0	0	0	1	0	0	0	6648	1377	48	2		2	GRIA2	4	157312699	Missense_Mutation	SNP	G	C3L-00144_TP	2723195	157312699	32901856	508	4787											
TKTL2	0	.	GRCh38	chr4	163471911	163471911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctggtactgattccaaaCatatccagcaattcactagt	12	13	6	10	0	2	1	1	1	1	0	4	1	4	1	2	1	3	2	2	1	5	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1824G>T	p.Met608Ile	p.M608I	ENST00000280605	1/1	18	12	6	18	18	0	strelka-varscan-mutect	TKTL2,missense_variant,p.Met608Ile,ENST00000280605,NM_032136.4;	A	ENST00000280605	Transcript	missense_variant	1836/2654	1824/1881	608/626	M/I	atG/atT		1		-1	TKTL2	HGNC	HGNC:25313	protein_coding	YES	CCDS3805.1	ENSP00000280605	Q9H0I9	A0A140VKC2	UPI0000037C67	NM_032136.4	tolerated(0.41)		1/1		hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF49,Pfam_domain:PF02780,Gene3D:3.40.50.920,Superfamily_domains:SSF52922																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	12	163471911	163471911	C	A	1	0	0	0	0	1	0	0	0	16379	478	17	2		2	TKTL2	4	163471911	Missense_Mutation	SNP	C	C3L-00144_TP	6159212	163471911	26742644	509	4788											
TENM3	0	.	GRCh38	chr4	182792957	182792957	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagattcaatatgagatattCaggtcgctcatgtactggat	12	13	10	6	1	3	2	3	1	0	2	4	5	3	3	0	2	1	2	0	2	4	5	rs746800423		C3L-00144_TP	C3L-00144_NB	C	C																c.6285C>G	p.Phe2095Leu	p.F2095L	ENST00000511685	26/28	205	163	42	219	219	0	strelka-varscan-mutect	TENM3,missense_variant,p.Phe2095Leu,ENST00000511685,NM_001080477.2;	G	ENST00000511685	Transcript	missense_variant	6408/10896	6285/8100	2095/2699	F/L	ttC/ttG	rs746800423	1		1	TENM3	HGNC	HGNC:29944	protein_coding	YES	CCDS47165.1	ENSP00000424226	Q9P273	A0A140VJW8	UPI00006C0820	NM_001080477.2	tolerated(0.49)		26/28		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10																	MODERATE	1	SNV	5			1										PASS		rs746800423	.												G	3	3	12	182792957	182792957	C	G	1	0	0	0	0	1	0	0	0	16173	825	29	4		4	TENM3	4	182792957	Missense_Mutation	SNP	C	C3L-00144_TP	19321046	182792957	7421598	510	4789											
TENM3	0	.	GRCh38	chr4	182799674	182799674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagatggccgaggtgcagGtgagccggcgccgggccggc	6	3	21	11	5	0	2	0	1	0	1	0	4	0	3	4	7	2	1	4	7	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.7423G>T	p.Val2475Leu	p.V2475L	ENST00000511685	28/28	263	205	58	273	272	1	strelka-varscan-mutect	TENM3,missense_variant,p.Val2475Leu,ENST00000511685,NM_001080477.2;	T	ENST00000511685	Transcript	missense_variant	7546/10896	7423/8100	2475/2699	V/L	Gtg/Ttg		1		1	TENM3	HGNC	HGNC:29944	protein_coding	YES	CCDS47165.1	ENSP00000424226	Q9P273	A0A140VJW8	UPI00006C0820	NM_001080477.2	tolerated(0.9)		28/28		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10																	MODERATE	1	SNV	5			1										PASS		rs1332303141	.												T	3	4	12	182799674	182799674	G	T	1	0	0	0	0	1	0	0	0	16173	1261	44	2		2	TENM3	4	182799674	Missense_Mutation	SNP	G	C3L-00144_TP	6717	182799674	7414881	511	4790											
LRP2BP	0	.	GRCh38	chr4	185378092	185378092	+	Frame_Shift_Del	DEL	T	T	-																															gatttgtaccagtcttttccTttttccactggaaaaatttt																								novel		C3L-00144_TP	C3L-00144_NB	T	T																c.95delA	p.Lys32ArgfsTer19	p.K32Rfs*19	ENST00000328559	1/8	135	93	42	114	114	0	sindel-varindel-pindel	LRP2BP,frameshift_variant,p.Lys32ArgfsTer19,ENST00000328559,NM_018409.3;LRP2BP,frameshift_variant,p.Lys32ArgfsTer19,ENST00000505916,;LRP2BP,frameshift_variant,p.Lys32ArgfsTer19,ENST00000511404,;LRP2BP,5_prime_UTR_variant,,ENST00000510776,;RP11-714G18.1,intron_variant,,ENST00000514884,;	-	ENST00000328559	Transcript	frameshift_variant	907/5157	95/1044	32/347	K/X	aAg/ag		1		-1	LRP2BP	HGNC	HGNC:25434	protein_coding	YES	CCDS3840.1	ENSP00000332681	Q9P2M1		UPI00001BB2BB	NM_018409.3			1/8																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	12	185378092	185378092	T	-	1	0	1	0	1	0	0	0	0	8852	1609	56	0		0	LRP2BP	4	185378092	Frame_Shift_Del	DEL	T	C3L-00144_TP	2578418	185378092	4836463	512	4791											
FAT1	0	.	GRCh38	chr4	186618886	186618886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcatccttagccattaaaCggactgagatcactttctcc	11	11	6	13	1	2	1	1	1	1	1	4	3	3	2	3	1	3	1	3	1	3	3	rs116784674		C3L-00144_TP	C3L-00144_NB	C	C																c.7700G>A	p.Arg2567His	p.R2567H	ENST00000441802	10/27	129	118	11	134	134	0	strelka-varscan-mutect	FAT1,missense_variant,p.Arg2567His,ENST00000441802,NM_005245.3;FAT1,missense_variant,p.Arg2569His,ENST00000614102,;	T	ENST00000441802	Transcript	missense_variant	7910/14786	7700/13767	2567/4588	R/H	cGt/cAt	rs116784674	1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3	tolerated(0.56)		10/27		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		rs116784674	.												T	3	4	12	186618886	186618886	C	T	1	0	0	0	0	1	0	0	0	5549	536	19	1		1	FAT1	4	186618886	Missense_Mutation	SNP	C	C3L-00144_TP	1240794	186618886	3595669	513	4792											
FAT1	0	.	GRCh38	chr4	186706777	186706777	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccacctcaacttcaacAtagcaagtagaagacagaga	18	6	6	11	0	3	3	3	0	0	3	3	4	3	3	2	0	4	2	2	0	7	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.3051T>C	p.=	p.Y1017Y	ENST00000441802	2/27	154	119	35	165	165	0	strelka-varscan-mutect	FAT1,synonymous_variant,p.=,ENST00000441802,NM_005245.3;FAT1,synonymous_variant,p.=,ENST00000614102,;FAT1,downstream_gene_variant,,ENST00000509647,;	G	ENST00000441802	Transcript	synonymous_variant	3261/14786	3051/13767	1017/4588	Y	taT/taC		1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3			2/27		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	12	186706777	186706777	A	G	1	0	0	0	0	0	0	0	1	5549	224	8	5		5	FAT1	4	186706777	Silent	SNP	A	C3L-00144_TP	87891	186706777	3507778	514	4793											
LRRC14B	0	.	GRCh38	chr5	195232	195232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatccaagtctccacacCtctctttggaagttttgacc	9	12	7	13	0	2	1	0	1	2	0	5	3	3	3	4	2	0	1	4	2	2	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1424C>G	p.Pro475Arg	p.P475R	ENST00000328278	2/2	765	670	95	332	332	0	strelka-varscan-mutect	LRRC14B,missense_variant,p.Pro475Arg,ENST00000328278,NM_001080478.1;CCDC127,downstream_gene_variant,,ENST00000296824,NM_145265.2;CTD-2083E4.7,upstream_gene_variant,,ENST00000563761,;	G	ENST00000328278	Transcript	missense_variant	1452/1573	1424/1545	475/514	P/R	cCt/cGt		1		1	LRRC14B	HGNC	HGNC:37268	protein_coding	YES	CCDS47184.1	ENSP00000327675	A6NHZ5		UPI0000237324	NM_001080478.1	deleterious(0)		2/2		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF27																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	12	195232	195232	C	G	1	0	0	0	0	1	0	0	0	8865	681	24	4		4	LRRC14B	5	195232	Missense_Mutation	SNP	C	C3L-00144_TP		195232	181343027	515	4794											
EXOC3	0	.	GRCh38	chr5	453445	453445	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccaccggaagctgatggAcctggagtgctcccgggacg	8	5	15	13	3	0	1	0	1	0	0	1	5	1	5	4	4	3	2	4	4	1	0	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.440A>T	p.Asp147Val	p.D147V	ENST00000512944	4/13	405	377	28	161	161	0	strelka-mutect	EXOC3,missense_variant,p.Asp147Val,ENST00000512944,NM_007277.4;EXOC3,missense_variant,p.Asp147Val,ENST00000315013,;EXOC3,missense_variant,p.Asp147Val,ENST00000515601,;EXOC3,missense_variant,p.Asp17Val,ENST00000503889,;EXOC3,upstream_gene_variant,,ENST00000510028,;	T	ENST00000512944	Transcript	missense_variant	629/2825	440/2238	147/745	D/V	gAc/gTc		1		1	EXOC3	HGNC	HGNC:30378	protein_coding	YES	CCDS54830.1	ENSP00000425587	O60645	A0A024QYZ6	UPI000004A021	NM_007277.4	deleterious(0)		4/13		hmmpanther:PTHR21292:SF13,hmmpanther:PTHR21292																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	453445	453445	A	T	1	0	0	0	0	1	0	0	0	5170	275	10	4		4	EXOC3	5	453445	Missense_Mutation	SNP	A	C3L-00144_TP	258213	453445	181084814	516	4795											
TERT	0	.	GRCh38	chr5	1294516	1294516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcgtcggtcaccgtgttggGcaggtagctgcgcacgctgg	4	9	17	11	5	1	0	1	0	0	0	2	0	1	0	1	4	3	6	1	4	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.370C>T	p.Pro124Ser	p.P124S	ENST00000310581	2/16	479	449	30	251	251	0	strelka-varscan-mutect	TERT,missense_variant,p.Pro124Ser,ENST00000310581,NM_198253.2;TERT,missense_variant,p.Pro124Ser,ENST00000334602,NM_001193376.1;TERT,missense_variant,p.Pro124Ser,ENST00000508104,;TERT,downstream_gene_variant,,ENST00000522877,;TERT,missense_variant,p.Pro124Ser,ENST00000460137,;	A	ENST00000310581	Transcript	missense_variant	428/4018	370/3399	124/1132	P/S	Ccc/Tcc		1		-1	TERT	HGNC	HGNC:11730	protein_coding	YES	CCDS3861.2	ENSP00000309572	O14746		UPI0000031309	NM_198253.2	tolerated(0.09)		2/16		hmmpanther:PTHR12066,hmmpanther:PTHR12066:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	1294516	1294516	G	A	1	0	0	0	0	1	0	0	0	16183	1203	42	3		3	TERT	5	1294516	Missense_Mutation	SNP	G	C3L-00144_TP	841071	1294516	180243743	517	4796											
SLC6A3	0	.	GRCh38	chr5	1414815	1414815	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggtggtgacaatcgcgtcCctgtaagaacaagacacgcc	12	6	12	11	3	0	3	0	1	0	2	2	4	1	3	2	2	1	1	2	2	4	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1032G>T	p.Arg344Ser	p.R344S	ENST00000270349	8/15	922	865	57	455	455	0	strelka-varscan-mutect	SLC6A3,missense_variant,p.Arg344Ser,ENST00000270349,NM_001044.4;SLC6A3,splice_region_variant,,ENST00000511750,;	A	ENST00000270349	Transcript	missense_variant,splice_region_variant	1160/3936	1032/1863	344/620	R/S	agG/agT		1		-1	SLC6A3	HGNC	HGNC:11049	protein_coding	YES	CCDS3863.1	ENSP00000270349	Q01959		UPI000013548F	NM_001044.4	deleterious(0.04)		8/15		PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF38,Pfam_domain:PF00209,Superfamily_domains:0053687																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	1414815	1414815	C	A	1	0	0	0	0	1	0	0	0	14968	637	22	2		2	SLC6A3	5	1414815	Missense_Mutation	SNP	C	C3L-00144_TP	120299	1414815	180123444	518	4797											
IRX1	0	.	GRCh38	chr5	3599332	3599332	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttccaatacggggacccCgggcggcccaagaacgccac	10	3	12	16	4	0	1	0	0	0	1	1	2	1	2	5	4	2	1	5	4	4	2	rs763266040		C3L-00144_TP	C3L-00144_NB	C	C																c.384C>T	p.=	p.P128P	ENST00000302006	2/4	740	661	79	313	313	0	strelka-varscan-mutect	IRX1,synonymous_variant,p.=,ENST00000302006,NM_024337.3;CTD-2012M11.3,intron_variant,,ENST00000559410,;	T	ENST00000302006	Transcript	synonymous_variant	436/1858	384/1443	128/480	P	ccC/ccT	rs763266040,COSM1067564	1		1	IRX1	HGNC	HGNC:14358	protein_coding	YES	CCDS34132.1	ENSP00000305244	P78414		UPI00001B6455	NM_024337.3			2/4		hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF13,SMART_domains:SM00389											0,1						LOW	1	SNV	1		0,1	1										PASS		rs763266040	.												T	2	4	12	3599332	3599332	C	T	1	0	0	0	0	0	0	0	1	7751	639	23	1		1	IRX1	5	3599332	Silent	SNP	C	C3L-00144_TP	2184517	3599332	177938927	519	4798											
ADAMTS16	0	.	GRCh38	chr5	5140518	5140518	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggcggcgctgtggatgctGttggcgcaggtggccgagca	4	9	19	9	4	0	0	0	0	0	0	0	2	0	1	1	6	2	5	1	6	0	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.51G>T	p.=	p.L17L	ENST00000274181	1/23	283	242	41	124	124	0	strelka-varscan-mutect	ADAMTS16,synonymous_variant,p.=,ENST00000274181,NM_139056.2;ADAMTS16,synonymous_variant,p.=,ENST00000511368,;CTD-2297D10.2,upstream_gene_variant,,ENST00000512155,;CTD-2297D10.1,downstream_gene_variant,,ENST00000514848,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	T	ENST00000274181	Transcript	synonymous_variant	189/4979	51/3675	17/1224	L	ctG/ctT		1		1	ADAMTS16	HGNC	HGNC:17108	protein_coding	YES	CCDS43299.1	ENSP00000274181	Q8TE57		UPI00004572CA	NM_139056.2			1/23		Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	12	5140518	5140518	G	T	1	0	0	0	0	0	0	0	1	305	1364	48	2		2	ADAMTS16	5	5140518	Silent	SNP	G	C3L-00144_TP	1541186	5140518	176397741	520	4799											
ADCY2	0	.	GRCh38	chr5	7695775	7695775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttatacgctgacatcgttgGctttacccggctggcaagtg	7	12	11	11	3	0	1	0	1	0	0	1	1	0	1	1	3	2	5	1	3	4	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.893G>T	p.Gly298Val	p.G298V	ENST00000338316	6/25	294	225	69	115	115	0	strelka-varscan-mutect	ADCY2,missense_variant,p.Gly298Val,ENST00000338316,NM_020546.2;ADCY2,missense_variant,p.Gly87Val,ENST00000515681,;ADCY2,downstream_gene_variant,,ENST00000513693,;	T	ENST00000338316	Transcript	missense_variant	982/6575	893/3276	298/1091	G/V	gGc/gTc		1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2	deleterious(0.02)		6/25		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,SMART_domains:SM00044,Superfamily_domains:SSF55073																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	7695775	7695775	G	T	1	0	0	0	0	1	0	0	0	338	1203	42	2		2	ADCY2	5	7695775	Missense_Mutation	SNP	G	C3L-00144_TP	2555257	7695775	173842484	521	4800											
C5orf49	0	.	GRCh38	chr5	7831882	7831882	+	Nonsense_Mutation	SNP	C	C	A																															aatgtgcccaaagccgggttCcttgaggctggggatgtcgt																										C3L-00144_TP	C3L-00144_NB	C	C																c.412G>T	p.Glu138Ter	p.E138*	ENST00000399810	3/3	328	258	70	138	138	0	strelka-varscan-mutect	C5orf49,stop_gained,p.Glu138Ter,ENST00000399810,NM_001089584.2;C5orf49,stop_gained,p.Glu136Ter,ENST00000509627,;ADCY2,downstream_gene_variant,,ENST00000338316,NM_020546.2;ADCY2,downstream_gene_variant,,ENST00000489501,;	A	ENST00000399810	Transcript	stop_gained	881/2385	412/444	138/147	E/*	Gaa/Taa	COSM1544520	1		-1	C5orf49	HGNC	HGNC:27028	protein_coding	YES	CCDS43300.1	ENSP00000382708	A4QMS7		UPI0000160436	NM_001089584.2			3/3		hmmpanther:PTHR34444											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	12	7831882	7831882	C	A	1	0	0	0	0	0	1	0	0	2104	864	30	2		2	C5orf49	5	7831882	Nonsense_Mutation	SNP	C	C3L-00144_TP	136107	7831882	173706377	522	4801	109	2									
C5orf49	0	.	GRCh38	chr5	7831883	7831883	+	Missense_Mutation	SNP	C	C	A																															atgtgcccaaagccgggttcCttgaggctggggatgtcgtt																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.411G>T	p.Lys137Asn	p.K137N	ENST00000399810	3/3	334	261	73	141	140	1	strelka-varscan-mutect	C5orf49,missense_variant,p.Lys137Asn,ENST00000399810,NM_001089584.2;C5orf49,missense_variant,p.Lys135Asn,ENST00000509627,;ADCY2,downstream_gene_variant,,ENST00000338316,NM_020546.2;ADCY2,downstream_gene_variant,,ENST00000489501,;	A	ENST00000399810	Transcript	missense_variant	880/2385	411/444	137/147	K/N	aaG/aaT		1		-1	C5orf49	HGNC	HGNC:27028	protein_coding	YES	CCDS43300.1	ENSP00000382708	A4QMS7		UPI0000160436	NM_001089584.2	tolerated(0.57)		3/3		hmmpanther:PTHR34444																	MODERATE	1	SNV	1			1										PASS		rs1361727669	.												A	3	1	12	7831883	7831883	C	A	1	0	0	0	0	1	0	0	0	2104	680	24	2		2	C5orf49	5	7831883	Missense_Mutation	SNP	C	C3L-00144_TP	1	7831883	173706376	523	4802	109	2									
CTNND2	0	.	GRCh38	chr5	11364701	11364701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgattacacacctgtgCtcgtgcggtaggtgccggtg	5	11	14	11	3	0	1	0	1	0	0	2	1	1	1	3	3	4	2	3	3	2	2			C3L-00144_TP	C3L-00144_NB	C	C																c.1367G>T	p.Ser456Ile	p.S456I	ENST00000304623	8/22	266	226	40	123	123	0	strelka-varscan-mutect	CTNND2,missense_variant,p.Ser456Ile,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Ser365Ile,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.Ser119Ile,ENST00000503622,NM_001288716.1;CTNND2,missense_variant,p.Ser196Ile,ENST00000502551,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,non_coding_transcript_exon_variant,,ENST00000504354,;CTNND2,non_coding_transcript_exon_variant,,ENST00000506735,;CTNND2,downstream_gene_variant,,ENST00000511278,;CTNND2,missense_variant,p.Ser210Ile,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;CTNND2,non_coding_transcript_exon_variant,,ENST00000507430,;	A	ENST00000304623	Transcript	missense_variant	1557/5481	1367/3678	456/1225	S/I	aGc/aTc	COSM4675423	1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	tolerated(0.1)		8/22		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	11364701	11364701	C	A	1	0	0	0	0	1	0	0	0	3829	811	28	2		2	CTNND2	5	11364701	Missense_Mutation	SNP	C	C3L-00144_TP	3532818	11364701	170173558	524	4803											
DNAH5	0	.	GRCh38	chr5	13735915	13735915	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatgaggaagtagaggaTgctgccccgcgtagccactg	11	7	14	9	2	0	2	0	1	0	1	0	4	0	4	3	2	3	4	3	2	4	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.11473A>G	p.Ile3825Val	p.I3825V	ENST00000265104	67/79	1119	974	145	461	460	1	strelka-varscan-mutect	DNAH5,missense_variant,p.Ile3825Val,ENST00000265104,NM_001369.2;	C	ENST00000265104	Transcript	missense_variant	11578/15633	11473/13875	3825/4624	I/V	Atc/Gtc		1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2	tolerated(0.3)		67/79		hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	13735915	13735915	T	C	1	0	0	0	0	1	0	0	0	4419	1464	51	5		5	DNAH5	5	13735915	Missense_Mutation	SNP	T	C3L-00144_TP	2371214	13735915	167802344	525	4804											
ANKH	0	.	GRCh38	chr5	14758480	14758480	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgatcttctctactcacCattgcgtccatgaaaggaaa	13	10	6	12	2	3	1	1	1	2	0	5	3	4	2	2	1	3	0	2	1	4	3			C3L-00144_TP	C3L-00144_NB	C	C																c.432G>T	p.Met144Ile	p.M144I	ENST00000284268	3/12	755	711	44	299	296	3	strelka-varscan-mutect	ANKH,missense_variant,p.Met144Ile,ENST00000284268,NM_054027.4;ANKH,upstream_gene_variant,,ENST00000503939,;	A	ENST00000284268	Transcript	missense_variant,splice_region_variant	763/8203	432/1479	144/492	M/I	atG/atT	COSM3612200	1		-1	ANKH	HGNC	HGNC:15492	protein_coding	YES	CCDS3885.1	ENSP00000284268	Q9HCJ1		UPI000003F535	NM_054027.4	tolerated(0.22)		3/12		Pfam_domain:PF07260,hmmpanther:PTHR28384,hmmpanther:PTHR28384:SF1,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	14758480	14758480	C	A	1	0	0	0	0	1	0	0	0	729	608	21	2		2	ANKH	5	14758480	Missense_Mutation	SNP	C	C3L-00144_TP	1022565	14758480	166779779	526	4805											
FBXL7	0	.	GRCh38	chr5	15928392	15928392	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacaccatcgcccagtgCtgccccgaactgaggcgact	8	7	10	16	3	0	1	0	1	0	0	1	3	0	1	4	1	4	2	4	1	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.630C>A	p.Cys210Ter	p.C210*	ENST00000504595	3/4	870	757	113	404	404	0	strelka-varscan-mutect	FBXL7,stop_gained,p.Cys210Ter,ENST00000504595,NM_012304.4;FBXL7,stop_gained,p.Cys168Ter,ENST00000329673,;FBXL7,stop_gained,p.Cys163Ter,ENST00000510662,NM_001278317.1;	A	ENST00000504595	Transcript	stop_gained	1111/4562	630/1476	210/491	C/*	tgC/tgA		1		1	FBXL7	HGNC	HGNC:13604	protein_coding	YES	CCDS54833.1	ENSP00000423630	Q9UJT9		UPI00000724E0	NM_012304.4			3/4		Gene3D:3.80.10.10,hmmpanther:PTHR24006,SMART_domains:SM00367,Superfamily_domains:SSF52047																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	15928392	15928392	C	A	1	0	0	0	0	0	1	0	0	5587	805	28	2		2	FBXL7	5	15928392	Nonsense_Mutation	SNP	C	C3L-00144_TP	1169912	15928392	165609867	527	4806											
CDH18	0	.	GRCh38	chr5	19473598	19473598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtcaaaggcctctgtGtcttcctctccgcctccttc	4	14	8	15	1	4	1	1	1	3	0	8	1	6	1	5	1	0	0	5	1	1	2			C3L-00144_TP	C3L-00144_NB	G	G																c.2001C>A	p.Asp667Glu	p.D667E	ENST00000507958	15/15	488	327	161	222	222	0	strelka-varscan-mutect	CDH18,missense_variant,p.Asp667Glu,ENST00000507958,NM_001291956.1;CDH18,missense_variant,p.Asp667Glu,ENST00000382275,NM_004934.3;CDH18,missense_variant,p.Asp667Glu,ENST00000274170,;CDH18,3_prime_UTR_variant,,ENST00000506372,NM_001291957.1;CDH18,3_prime_UTR_variant,,ENST00000502796,NM_001167667.1;CDH18,downstream_gene_variant,,ENST00000515257,;CDH18,non_coding_transcript_exon_variant,,ENST00000510297,;	T	ENST00000507958	Transcript	missense_variant	2992/3542	2001/2373	667/790	D/E	gaC/gaA	COSM591974,COSM591975	1		-1	CDH18	HGNC	HGNC:1757	protein_coding	YES	CCDS3889.1	ENSP00000425093	Q13634		UPI0000126DBD	NM_001291956.1	deleterious(0)		15/15		Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Pfam_domain:PF01049											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												T	3	4	12	19473598	19473598	G	T	1	0	0	0	0	1	0	0	0	2806	1368	48	2		2	CDH18	5	19473598	Missense_Mutation	SNP	G	C3L-00144_TP	3545206	19473598	162064661	528	4807											
CDH18	0	.	GRCh38	chr5	19483396	19483396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatggcaggtccgcacaCgcccatctctctcgcatgca	7	8	9	17	3	2	0	0	0	2	0	5	0	3	0	2	2	2	5	2	2	0	0	rs781255308		C3L-00144_TP	C3L-00144_NB	C	C																c.1787G>T	p.Arg596Leu	p.R596L	ENST00000507958	14/15	596	456	140	222	222	0	strelka-varscan-mutect	CDH18,missense_variant,p.Arg596Leu,ENST00000507958,NM_001291956.1;CDH18,missense_variant,p.Arg596Leu,ENST00000382275,NM_004934.3;CDH18,missense_variant,p.Arg596Leu,ENST00000274170,;CDH18,missense_variant,p.Val561Leu,ENST00000506372,NM_001291957.1;CDH18,missense_variant,p.Val560Leu,ENST00000502796,NM_001167667.1;CDH18,missense_variant,p.Val427Leu,ENST00000515257,;CDH18,upstream_gene_variant,,ENST00000510297,;	A	ENST00000507958	Transcript	missense_variant	2778/3542	1787/2373	596/790	R/L	cGt/cTt	rs781255308,COSM182511,COSM4421262,COSM5615523,COSM5615524	1		-1	CDH18	HGNC	HGNC:1757	protein_coding	YES	CCDS3889.1	ENSP00000425093	Q13634		UPI0000126DBD	NM_001291956.1	tolerated(0.41)		14/15		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,SMART_domains:SM00112											0,1,1,1,1						MODERATE	1	SNV	2		0,1,1,1,1	1										PASS		rs781255308	.												A	3	1	12	19483396	19483396	C	A	1	0	0	0	0	1	0	0	0	2806	536	19	1		1	CDH18	5	19483396	Missense_Mutation	SNP	C	C3L-00144_TP	9798	19483396	162054863	529	4808											
CDH18	0	.	GRCh38	chr5	19483525	19483525	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcgactaaatctcctcCgccttgtcagaatgctggct	8	12	8	13	2	2	1	1	0	1	1	5	2	3	1	3	1	1	3	3	1	3	3	rs775306740		C3L-00144_TP	C3L-00144_NB	C	C																c.1658G>T	p.Arg553Leu	p.R553L	ENST00000507958	14/15	217	202	15	105	105	0	strelka-varscan-mutect	CDH18,missense_variant,p.Arg553Leu,ENST00000507958,NM_001291956.1;CDH18,missense_variant,p.Arg553Leu,ENST00000382275,NM_004934.3;CDH18,missense_variant,p.Arg553Leu,ENST00000274170,;CDH18,intron_variant,,ENST00000506372,NM_001291957.1;CDH18,intron_variant,,ENST00000502796,NM_001167667.1;CDH18,intron_variant,,ENST00000515257,;CDH18,upstream_gene_variant,,ENST00000510297,;	A	ENST00000507958	Transcript	missense_variant	2649/3542	1658/2373	553/790	R/L	cGg/cTg	rs775306740	1		-1	CDH18	HGNC	HGNC:1757	protein_coding	YES	CCDS3889.1	ENSP00000425093	Q13634		UPI0000126DBD	NM_001291956.1	deleterious(0.02)		14/15		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	2			1										PASS		rs775306740	.												A	3	1	12	19483525	19483525	C	A	1	0	0	0	0	1	0	0	0	2806	652	23	1		1	CDH18	5	19483525	Missense_Mutation	SNP	C	C3L-00144_TP	129	19483525	162054734	530	4809											
CDH12	0	.	GRCh38	chr5	21755833	21755833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcgggtttcaatccccGctgtgttgtctacaaaacat	8	15	7	11	2	3	0	1	0	2	0	5	0	4	0	2	1	2	3	2	1	4	5	rs745634405		C3L-00144_TP	C3L-00144_NB	G	G																c.1643C>A	p.Ala548Glu	p.A548E	ENST00000382254	14/15	272	194	78	111	111	0	strelka-varscan-mutect	CDH12,missense_variant,p.Ala548Glu,ENST00000382254,NM_004061.3;CDH12,missense_variant,p.Ala548Glu,ENST00000504376,;CDH12,missense_variant,p.Ala508Glu,ENST00000522262,;RP11-804N13.1,intron_variant,,ENST00000522350,;CDH12,non_coding_transcript_exon_variant,,ENST00000521384,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;	T	ENST00000382254	Transcript	missense_variant	2730/4164	1643/2385	548/794	A/E	gCg/gAg	rs745634405	1		-1	CDH12	HGNC	HGNC:1751	protein_coding	YES	CCDS3890.1	ENSP00000371689	P55289		UPI00000622EB	NM_004061.3	deleterious(0)		14/15		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF96,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs745634405	.												T	3	4	12	21755833	21755833	G	T	1	0	0	0	0	1	0	0	0	2801	1087	38	1		1	CDH12	5	21755833	Missense_Mutation	SNP	G	C3L-00144_TP	2272308	21755833	159782426	531	4810											
CDH12	0	.	GRCh38	chr5	21760600	21760600	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggtttgatagcagcctCaggtgataatctaaaggaga	13	12	11	5	0	2	3	1	2	1	1	2	4	2	3	1	3	2	2	1	3	4	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1591G>T	p.Glu531Ter	p.E531*	ENST00000382254	13/15	497	464	33	225	225	0	strelka-varscan-mutect	CDH12,stop_gained,p.Glu531Ter,ENST00000382254,NM_004061.3;CDH12,stop_gained,p.Glu531Ter,ENST00000504376,;CDH12,stop_gained,p.Glu491Ter,ENST00000522262,;RP11-804N13.1,intron_variant,,ENST00000522350,;CDH12,non_coding_transcript_exon_variant,,ENST00000521384,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;	A	ENST00000382254	Transcript	stop_gained	2678/4164	1591/2385	531/794	E/*	Gag/Tag		1		-1	CDH12	HGNC	HGNC:1751	protein_coding	YES	CCDS3890.1	ENSP00000371689	P55289		UPI00000622EB	NM_004061.3			13/15		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF96,SMART_domains:SM00112,Superfamily_domains:SSF49313																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	21760600	21760600	C	A	1	0	0	0	0	0	1	0	0	2801	835	29	2		2	CDH12	5	21760600	Nonsense_Mutation	SNP	C	C3L-00144_TP	4767	21760600	159777659	532	4811											
PRDM9	0	.	GRCh38	chr5	23527307	23527307	+	Missense_Mutation	SNP	G	G	T																															acacctcctcagacaccagaGgacacacacaggggagaagc																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2219G>T	p.Arg740Met	p.R740M	ENST00000296682	11/11	491	442	49	272	272	0	varscan-mutect	PRDM9,missense_variant,p.Arg740Met,ENST00000296682,NM_020227.2;PRDM9,downstream_gene_variant,,ENST00000635252,;	T	ENST00000296682	Transcript	missense_variant	2401/3691	2219/2685	740/894	R/M	aGg/aTg		1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	deleterious(0.01)		11/11		PROSITE_profiles:PS50157,hmmpanther:PTHR16515:SF10,hmmpanther:PTHR16515,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1411374469	.												T	3	4	12	23527307	23527307	G	T	1	0	0	0	0	1	0	0	0	12595	1000	35	2		2	PRDM9	5	23527307	Missense_Mutation	SNP	G	C3L-00144_TP	1766707	23527307	158010952	533	4812	110	2									
PRDM9	0	.	GRCh38	chr5	23527308	23527308	+	Missense_Mutation	SNP	G	G	T																															cacctcctcagacaccagagGacacacacaggggagaagcc																								rs545165633		C3L-00144_TP	C3L-00144_NB	G	G																c.2220G>T	p.Arg740Ser	p.R740S	ENST00000296682	11/11	495	447	48	275	275	0	varscan-mutect	PRDM9,missense_variant,p.Arg740Ser,ENST00000296682,NM_020227.2;PRDM9,downstream_gene_variant,,ENST00000635252,;	T	ENST00000296682	Transcript	missense_variant	2402/3691	2220/2685	740/894	R/S	agG/agT	rs545165633	1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	deleterious(0)		11/11		PROSITE_profiles:PS50157,hmmpanther:PTHR16515:SF10,hmmpanther:PTHR16515,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs765227672	.												T	3	4	12	23527308	23527308	G	T	1	0	0	0	0	1	0	0	0	12595	1165	41	2		2	PRDM9	5	23527308	Missense_Mutation	SNP	G	C3L-00144_TP	1	23527308	158010951	534	4813	110	2									
CDH10	0	.	GRCh38	chr5	24537482	24537482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatcacaaactctgactctgGctctactggcctcagagttc	9	11	8	13	0	5	2	2	1	3	1	6	3	5	2	1	2	2	2	1	2	2	2	rs779300580		C3L-00144_TP	C3L-00144_NB	G	G																c.424C>A	p.Pro142Thr	p.P142T	ENST00000264463	3/12	466	326	140	211	211	0	strelka-varscan-mutect	CDH10,missense_variant,p.Pro142Thr,ENST00000264463,NM_006727.3;CDH10,missense_variant,p.Pro142Thr,ENST00000510477,;	T	ENST00000264463	Transcript	missense_variant	932/3438	424/2367	142/788	P/T	Cca/Aca	rs779300580,COSM1186749	1		-1	CDH10	HGNC	HGNC:1749	protein_coding	YES	CCDS3892.1	ENSP00000264463	Q9Y6N8	X5D8X5	UPI0000167B7B	NM_006727.3	deleterious(0)		3/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs779300580	.												T	3	4	12	24537482	24537482	G	T	1	0	0	0	0	1	0	0	0	2799	1203	42	2		2	CDH10	5	24537482	Missense_Mutation	SNP	G	C3L-00144_TP	1010174	24537482	157000777	535	4814											
CDH9	0	.	GRCh38	chr5	26885724	26885724	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtttccttgattatcgCaggcacacacacggatagtg	10	11	10	10	2	0	1	0	1	0	0	2	2	1	2	1	2	0	4	1	2	2	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1772G>T	p.Cys591Phe	p.C591F	ENST00000231021	11/12	947	678	269	381	379	2	strelka-varscan-mutect	CDH9,missense_variant,p.Cys591Phe,ENST00000231021,NM_016279.3;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	A	ENST00000231021	Transcript	missense_variant	1945/3079	1772/2370	591/789	C/F	tGc/tTc		1		-1	CDH9	HGNC	HGNC:1768	protein_coding	YES	CCDS3893.1	ENSP00000231021	Q9ULB4		UPI000013C945	NM_016279.3	deleterious(0)		11/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF99,hmmpanther:PTHR24027,Gene3D:2.60.40.60,SMART_domains:SM00112																	MODERATE	1	SNV	1			1										PASS		rs1465472197	.												A	3	1	12	26885724	26885724	C	A	1	0	0	0	0	1	0	0	0	2820	710	25	2		2	CDH9	5	26885724	Missense_Mutation	SNP	C	C3L-00144_TP	2348242	26885724	154652535	536	4815											
CDH9	0	.	GRCh38	chr5	26915773	26915773	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtctatagccttggcaCgaagaatgtacagagatttt	11	14	9	7	1	2	2	0	0	2	2	2	4	2	2	1	1	2	2	1	1	5	7	rs367589604		C3L-00144_TP	C3L-00144_NB	C	C																c.380G>T	p.Arg127Leu	p.R127L	ENST00000231021	3/12	853	750	103	367	367	0	strelka-varscan-mutect	CDH9,missense_variant,p.Arg127Leu,ENST00000231021,NM_016279.3;CDH9,missense_variant,p.Arg127Leu,ENST00000513289,;CDH9,downstream_gene_variant,,ENST00000511822,;CDH9,non_coding_transcript_exon_variant,,ENST00000505045,;	A	ENST00000231021	Transcript	missense_variant	553/3079	380/2370	127/789	R/L	cGt/cTt	rs367589604	1		-1	CDH9	HGNC	HGNC:1768	protein_coding	YES	CCDS3893.1	ENSP00000231021	Q9ULB4		UPI000013C945	NM_016279.3	tolerated(0.07)		3/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF99,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs367589604	.												A	3	1	12	26915773	26915773	C	A	1	0	0	0	0	1	0	0	0	2820	536	19	1		1	CDH9	5	26915773	Missense_Mutation	SNP	C	C3L-00144_TP	30049	26915773	154622486	537	4816											
NPR3	0	.	GRCh38	chr5	32780785	32780785	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggggatttctctgtgattgCcatgactgatgtggaggcgg	6	13	16	6	1	1	3	0	3	1	0	2	5	1	5	1	5	1	0	1	5	0	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1259C>A	p.Ala420Asp	p.A420D	ENST00000265074	5/8	316	179	137	165	165	0	strelka-varscan-mutect	NPR3,missense_variant,p.Ala420Asp,ENST00000265074,NM_001204375.1;NPR3,missense_variant,p.Ala204Asp,ENST00000326958,NM_001204376.1;NPR3,missense_variant,p.Ala204Asp,ENST00000434067,;NPR3,missense_variant,p.Ala420Asp,ENST00000415167,NM_000908.3;NPR3,missense_variant,p.Ala197Asp,ENST00000509104,;NPR3,non_coding_transcript_exon_variant,,ENST00000506712,;	A	ENST00000265074	Transcript	missense_variant	1602/7344	1259/1626	420/541	A/D	gCc/gAc		1		1	NPR3	HGNC	HGNC:7945	protein_coding	YES	CCDS56357.1	ENSP00000265074	P17342		UPI0000125B46	NM_001204375.1	tolerated(0.78)		5/8		hmmpanther:PTHR11920:SF302,hmmpanther:PTHR11920,Pfam_domain:PF01094,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	32780785	32780785	C	A	1	0	0	0	0	1	0	0	0	10652	739	26	2		2	NPR3	5	32780785	Missense_Mutation	SNP	C	C3L-00144_TP	5865012	32780785	148757474	538	4817											
NPR3	0	.	GRCh38	chr5	32786327	32786327	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggaagattccatcagatcCcatttttcagtagcttaaag	12	12	8	9	1	2	2	2	0	0	2	4	3	4	3	2	1	1	2	2	1	4	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1608C>A	p.=	p.S536S	ENST00000265074	8/8	649	431	218	319	319	0	strelka-varscan-mutect	NPR3,synonymous_variant,p.=,ENST00000265074,NM_001204375.1;NPR3,synonymous_variant,p.=,ENST00000326958,NM_001204376.1;NPR3,synonymous_variant,p.=,ENST00000434067,;NPR3,synonymous_variant,p.=,ENST00000415167,NM_000908.3;NPR3,downstream_gene_variant,,ENST00000509104,;NPR3,downstream_gene_variant,,ENST00000506712,;	A	ENST00000265074	Transcript	synonymous_variant	1951/7344	1608/1626	536/541	S	tcC/tcA		1		1	NPR3	HGNC	HGNC:7945	protein_coding	YES	CCDS56357.1	ENSP00000265074	P17342		UPI0000125B46	NM_001204375.1			8/8		hmmpanther:PTHR11920:SF302,hmmpanther:PTHR11920																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	32786327	32786327	C	A	1	0	0	0	0	0	0	0	1	10652	610	22	2		2	NPR3	5	32786327	Silent	SNP	C	C3L-00144_TP	5542	32786327	148751932	539	4818											
ADAMTS12	0	.	GRCh38	chr5	33549362	33549362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatctcgcgtatcttgaagcCcccactgcagtttctggagc	8	11	9	13	2	3	1	0	1	3	0	4	2	3	2	2	1	3	3	2	1	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.4147G>T	p.Gly1383Cys	p.G1383C	ENST00000504830	21/24	210	174	36	106	106	0	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Gly1383Cys,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Gly1298Cys,ENST00000352040,;	A	ENST00000504830	Transcript	missense_variant	4483/8774	4147/4785	1383/1594	G/C	Ggc/Tgc		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	deleterious(0)		21/24		Gene3D:2.20.100.10,Pfam_domain:PF00090,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		rs1436110386	.												A	3	1	12	33549362	33549362	C	A	1	0	0	0	0	1	0	0	0	301	623	22	2		2	ADAMTS12	5	33549362	Missense_Mutation	SNP	C	C3L-00144_TP	763035	33549362	147988897	540	4819											
ADAMTS12	0	.	GRCh38	chr5	33630833	33630833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgccgccttcaaagcaagGggtaccatcaatgacagcat	12	8	10	11	1	2	1	2	1	0	0	2	1	2	1	3	2	4	4	3	2	4	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1969C>A	p.Pro657Thr	p.P657T	ENST00000504830	13/24	549	508	41	258	256	2	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Pro657Thr,ENST00000504830,NM_030955.2;ADAMTS12,intron_variant,,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	T	ENST00000504830	Transcript	missense_variant	2305/8774	1969/4785	657/1594	P/T	Cct/Act		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	deleterious(0)		13/24		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189																	MODERATE	1	SNV	1			1										PASS		rs924325130	.												T	3	4	12	33630833	33630833	G	T	1	0	0	0	0	1	0	0	0	301	1232	43	2		2	ADAMTS12	5	33630833	Missense_Mutation	SNP	G	C3L-00144_TP	81471	33630833	147907426	541	4820											
ADAMTS12	0	.	GRCh38	chr5	33683945	33683945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcggccaccaccagtgtctCcacccatctctccttgctga	6	10	7	18	1	2	1	0	1	2	0	6	1	3	1	6	1	1	1	6	1	0	1	rs765900765		C3L-00144_TP	C3L-00144_NB	C	C																c.745G>A	p.Glu249Lys	p.E249K	ENST00000504830	4/24	132	115	17	88	88	0	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Glu249Lys,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Glu249Lys,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	T	ENST00000504830	Transcript	missense_variant	1081/8774	745/4785	249/1594	E/K	Gag/Aag	rs765900765,COSM592065	1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	deleterious(0)		4/24		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,Superfamily_domains:SSF55486											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs765900765	.												T	3	4	12	33683945	33683945	C	T	1	0	0	0	0	1	0	0	0	301	864	30	3		3	ADAMTS12	5	33683945	Missense_Mutation	SNP	C	C3L-00144_TP	53112	33683945	147854314	542	4821											
ADAMTS12	0	.	GRCh38	chr5	33751453	33751453	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggaactttctgcctcctGtaaacgatgtgcgggtggta	7	13	12	9	2	2	0	0	0	2	0	3	2	3	1	2	3	4	2	2	3	4	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.585C>A	p.Tyr195Ter	p.Y195*	ENST00000504830	3/24	713	672	41	296	296	0	strelka-varscan-mutect	ADAMTS12,stop_gained,p.Tyr195Ter,ENST00000504830,NM_030955.2;ADAMTS12,stop_gained,p.Tyr195Ter,ENST00000352040,;ADAMTS12,stop_gained,p.Tyr195Ter,ENST00000515401,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	T	ENST00000504830	Transcript	stop_gained	921/8774	585/4785	195/1594	Y/*	taC/taA		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2			3/24		Pfam_domain:PF01562,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	33751453	33751453	G	T	1	0	0	0	0	0	1	0	0	301	1372	48	2		2	ADAMTS12	5	33751453	Nonsense_Mutation	SNP	G	C3L-00144_TP	67508	33751453	147786806	543	4822											
RXFP3	0	.	GRCh38	chr5	33937266	33937266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgttcttcctcactgccAtgagtgtgacgcgctaccat	6	12	10	13	3	2	2	1	2	1	0	3	2	3	2	3	0	2	2	3	0	1	3			C3L-00144_TP	C3L-00144_NB	A	A																c.526A>G	p.Met176Val	p.M176V	ENST00000330120	1/1	299	171	128	151	151	0	strelka-varscan-mutect	RXFP3,missense_variant,p.Met176Val,ENST00000330120,NM_016568.3;	G	ENST00000330120	Transcript	missense_variant	881/1852	526/1410	176/469	M/V	Atg/Gtg	COSM1178089	1		1	RXFP3	HGNC	HGNC:24883	protein_coding	YES	CCDS3900.1	ENSP00000328708	Q9NSD7		UPI0000046AEB	NM_016568.3	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF70,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												G	3	3	12	33937266	33937266	A	G	1	0	0	0	0	1	0	0	0	14022	217	8	5		5	RXFP3	5	33937266	Missense_Mutation	SNP	A	C3L-00144_TP	185813	33937266	147600993	544	4823											
SPEF2	0	.	GRCh38	chr5	35712865	35712865	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaaagggaagaaaggtGagaccgcactcaaaagaaaa	22	2	12	5	1	1	3	1	1	0	3	1	6	1	5	1	3	0	1	1	3	9	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2893G>T	p.Glu965Ter	p.E965*	ENST00000356031	20/37	403	328	75	174	173	1	strelka-varscan-mutect	SPEF2,stop_gained,p.Glu965Ter,ENST00000637569,;SPEF2,stop_gained,p.Glu960Ter,ENST00000440995,;SPEF2,stop_gained,p.Glu965Ter,ENST00000356031,NM_024867.3;SPEF2,downstream_gene_variant,,ENST00000509059,;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,downstream_gene_variant,,ENST00000503074,;	T	ENST00000356031	Transcript	stop_gained	3047/5681	2893/5469	965/1822	E/*	Gag/Tag		1		1	SPEF2	HGNC	HGNC:26293	protein_coding	YES	CCDS43309.1	ENSP00000348314	Q9C093	A0A140VKD0	UPI0001505B9F	NM_024867.3			20/37		hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	12	35712865	35712865	G	T	1	0	0	0	0	0	1	0	0	15386	1291	45	2		2	SPEF2	5	35712865	Nonsense_Mutation	SNP	G	C3L-00144_TP	1775599	35712865	145825394	545	4824											
SPEF2	0	.	GRCh38	chr5	35792338	35792338	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatatttttcattgtattatAggcataataggaaataaagc	17	15	6	3	0	1	0	1	0	0	0	1	1	1	1	0	2	1	2	0	2	10	10	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.4448-2A>T		p.X1483_splice	ENST00000356031		210	176	34	104	104	0	strelka-varscan-mutect	SPEF2,splice_acceptor_variant,,ENST00000440995,;SPEF2,splice_acceptor_variant,,ENST00000356031,NM_024867.3;SPEF2,downstream_gene_variant,,ENST00000637569,;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,downstream_gene_variant,,ENST00000635995,;SPEF2,splice_acceptor_variant,,ENST00000506526,;SPEF2,splice_acceptor_variant,,ENST00000513078,;SPEF2,splice_acceptor_variant,,ENST00000637061,;	T	ENST00000356031	Transcript	splice_acceptor_variant	-/5681	4448/5469	1483/1822				1		1	SPEF2	HGNC	HGNC:26293	protein_coding	YES	CCDS43309.1	ENSP00000348314	Q9C093	A0A140VKD0	UPI0001505B9F	NM_024867.3				30/36																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	12	35792338	35792338	A	T	1	0	0	0	0	0	0	1	0	15386	434	15	4		4	SPEF2	5	35792338	Splice_Site	SNP	A	C3L-00144_TP	79473	35792338	145745921	546	4825											
IL7R	0	.	GRCh38	chr5	35867350	35867350	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaatttcaggaaactacAagagatatatttcatcgaga	16	11	7	7	1	2	3	2	1	0	2	3	6	2	4	1	1	2	0	1	1	6	5	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.266A>T	p.Gln89Leu	p.Q89L	ENST00000303115	3/8	470	294	176	237	237	0	strelka-varscan-mutect	IL7R,missense_variant,p.Gln89Leu,ENST00000303115,NM_002185.3;IL7R,missense_variant,p.Gln89Leu,ENST00000506850,;IL7R,missense_variant,p.Gln89Leu,ENST00000511982,;IL7R,non_coding_transcript_exon_variant,,ENST00000511031,;IL7R,missense_variant,p.Gln89Leu,ENST00000514217,;	T	ENST00000303115	Transcript	missense_variant	395/4626	266/1380	89/459	Q/L	cAa/cTa		1		1	IL7R	HGNC	HGNC:6024	protein_coding	YES	CCDS3911.1	ENSP00000306157	P16871		UPI000013E861	NM_002185.3	deleterious(0.01)		3/8		hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF27																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	35867350	35867350	A	T	1	0	0	0	0	1	0	0	0	7609	130	5	4		4	IL7R	5	35867350	Missense_Mutation	SNP	A	C3L-00144_TP	75012	35867350	145670909	547	4826											
NIPBL	0	.	GRCh38	chr5	36975838	36975838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttcatcacctcgagatgttCcaccagatatcttgctagat	10	13	7	11	1	3	3	2	0	1	3	5	4	4	3	3	0	1	3	3	0	2	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.931C>T	p.Pro311Ser	p.P311S	ENST00000282516	9/47	164	150	14	88	88	0	strelka-mutect	NIPBL,missense_variant,p.Pro311Ser,ENST00000282516,NM_133433.3;NIPBL,missense_variant,p.Pro311Ser,ENST00000448238,NM_015384.4;NIPBL,intron_variant,,ENST00000621733,;NIPBL,non_coding_transcript_exon_variant,,ENST00000504430,;NIPBL,non_coding_transcript_exon_variant,,ENST00000505998,;	T	ENST00000282516	Transcript	missense_variant	1430/10435	931/8415	311/2804	P/S	Cca/Tca		1		1	NIPBL	HGNC	HGNC:28862	protein_coding	YES	CCDS3920.1	ENSP00000282516	Q6KC79		UPI00003761B5	NM_133433.3	tolerated_low_confidence(0.06)		9/47		hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	36975838	36975838	C	T	1	0	0	0	0	1	0	0	0	10463	855	30	3		3	NIPBL	5	36975838	Missense_Mutation	SNP	C	C3L-00144_TP	1108488	36975838	144562421	548	4827											
C5orf42	0	.	GRCh38	chr5	37107618	37107618	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttacaggtccagggccCagtggacagacaggccctgg	8	6	15	12	0	1	1	0	0	1	1	2	2	2	2	3	6	1	0	3	6	1	1			C3L-00144_TP	C3L-00144_NB	C	C																c.9578G>A	p.Trp3193Ter	p.W3193*	ENST00000425232	52/52	132	78	54	82	82	0	strelka-varscan-mutect	C5orf42,stop_gained,p.Trp3193Ter,ENST00000425232,NM_023073.3;C5orf42,stop_gained,p.Trp3193Ter,ENST00000508244,;C5orf42,stop_gained,p.Trp2259Ter,ENST00000514429,;C5orf42,3_prime_UTR_variant,,ENST00000509849,;	T	ENST00000425232	Transcript	stop_gained	9809/11199	9578/9594	3193/3197	W/*	tGg/tAg	COSM5334267,COSM5334268	1		-1	C5orf42	HGNC	HGNC:25801	protein_coding	YES	CCDS34146.2	ENSP00000389014	Q9H799		UPI0001AAB3EA	NM_023073.3			52/52		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF3											1,1						HIGH	1	SNV	5		1,1	1										PASS		.	.												T	4	4	12	37107618	37107618	C	T	1	0	0	0	0	0	1	0	0	2100	595	21	3		3	C5orf42	5	37107618	Nonsense_Mutation	SNP	C	C3L-00144_TP	131780	37107618	144430641	549	4828											
CARD6	0	.	GRCh38	chr5	40852825	40852825	+	Frame_Shift_Del	DEL	G	G	-																															gcctcttttggtgcttccccGgcaaatctctgatggcctgg																								rs756806898		C3L-00144_TP	C3L-00144_NB	G	G																c.1494delG	p.Gln499LysfsTer9	p.Q499Kfs*9	ENST00000254691	3/3	308	254	54	150	150	0	sindel-varindel-pindel	CARD6,frameshift_variant,p.Gln499LysfsTer9,ENST00000254691,NM_032587.3;CARD6,intron_variant,,ENST00000381677,;	-	ENST00000254691	Transcript	frameshift_variant	1692/4221	1493/3114	498/1037	R/X	cGg/cg	rs756806898,COSM309854	1		1	CARD6	HGNC	HGNC:16394	protein_coding	YES	CCDS3935.1	ENSP00000254691	Q9BX69		UPI000013CE50	NM_032587.3			3/3		hmmpanther:PTHR22797,hmmpanther:PTHR22797:SF36											0,1						HIGH	1	deletion	1	1	0,1	1										PASS		.	.												-	7	5	12	40852825	40852825	G	-	1	0	1	0	1	0	0	0	0	2346	1116	39	0		0	CARD6	5	40852825	Frame_Shift_Del	DEL	G	C3L-00144_TP	3745207	40852825	140685434	550	4829											
C6	0	.	GRCh38	chr5	41153838	41153838	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgagagagtttgaaatGggtggtgtccaggaattccc	10	10	15	6	0	0	3	0	2	0	1	2	5	2	4	2	4	0	1	2	4	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2262C>G	p.=	p.P754P	ENST00000263413	15/18	275	237	38	144	144	0	strelka-varscan-mutect	C6,synonymous_variant,p.=,ENST00000263413,NM_001115131.2;C6,synonymous_variant,p.=,ENST00000337836,NM_000065.3;C6,non_coding_transcript_exon_variant,,ENST00000461473,;C6,downstream_gene_variant,,ENST00000511470,;	C	ENST00000263413	Transcript	synonymous_variant	2527/3661	2262/2805	754/934	P	ccC/ccG		1		-1	C6	HGNC	HGNC:1339	protein_coding	YES	CCDS3936.1	ENSP00000263413	P13671		UPI000013D401	NM_001115131.2			15/18		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	1			1										PASS		rs1169273331	.												C	2	2	12	41153838	41153838	G	C	1	0	0	0	0	0	0	0	1	2111	1335	47	4		4	C6	5	41153838	Silent	SNP	G	C3L-00144_TP	301013	41153838	140384421	551	4830											
PARP8	0	.	GRCh38	chr5	50833427	50833427	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtttcagagaaaacaaGtatattctgggaaaattaaa	17	13	8	3	0	2	1	1	0	1	1	2	3	2	2	0	1	1	3	0	1	9	6	rs78857756		C3L-00144_TP	C3L-00144_NB	G	G																c.1447+1G>T		p.X483_splice	ENST00000514342		81	61	20	99	99	0	strelka-varscan-mutect	PARP8,splice_donor_variant,,ENST00000514342,;PARP8,intron_variant,,ENST00000281631,NM_024615.3;PARP8,intron_variant,,ENST00000505554,;PARP8,intron_variant,,ENST00000514067,NM_001178056.1;PARP8,intron_variant,,ENST00000505697,NM_001178055.1;PARP8,intron_variant,,ENST00000511363,;PARP8,intron_variant,,ENST00000503561,;PARP8,intron_variant,,ENST00000515166,;	T	ENST00000514342	Transcript	splice_donor_variant	-/2384	1447/1485	483/494			rs78857756	1		1	PARP8	HGNC	HGNC:26124	protein_coding			ENSP00000439022		F5H3X8	UPI0002065869					23/23																		HIGH		SNV	5			1										PASS		rs78857756	.												T	5	4	12	50833427	50833427	G	T	1	0	0	0	0	0	0	1	0	11545	1043	36	2		2	PARP8	5	50833427	Splice_Site	SNP	G	C3L-00144_TP	9679589	50833427	130704832	552	4831											
HTR1A	0	.	GRCh38	chr5	63961714	63961714	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaccagggctgagcacAtccatgcctgcgcgcccggc	6	5	12	18	3	0	2	0	2	0	0	1	2	1	2	5	2	3	2	5	2	0	0	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.6T>A	p.Asp2Glu	p.D2E	ENST00000323865	1/1	386	265	121	363	363	0	strelka-varscan-mutect	HTR1A,missense_variant,p.Asp2Glu,ENST00000323865,NM_000524.3;HTR1A,missense_variant,p.Asp2Glu,ENST00000506598,;RP11-158J3.2,intron_variant,,ENST00000502882,;	T	ENST00000323865	Transcript	missense_variant	420/1778	6/1269	2/422	D/E	gaT/gaA		1		-1	HTR1A	HGNC	HGNC:5286	protein_coding	YES	CCDS34168.1	ENSP00000316244	P08908	Q5ZGX3	UPI0000124F1A	NM_000524.3	tolerated_low_confidence(0.21)		1/1		hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF20																	MODERATE		SNV				1										PASS		.	.												T	3	4	12	63961714	63961714	A	T	1	0	0	0	0	1	0	0	0	7332	214	8	4		4	HTR1A	5	63961714	Missense_Mutation	SNP	A	C3L-00144_TP	13128287	63961714	117576545	553	4832											
ADAMTS6	0	.	GRCh38	chr5	65197088	65197088	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttactgtcaggatcacagTaattgttctggacaatggag	11	12	11	7	0	3	0	2	0	1	0	3	3	3	3	0	3	1	3	0	3	3	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2639A>T	p.Tyr880Phe	p.Y880F	ENST00000381055	21/25	174	135	39	183	183	0	strelka-varscan-mutect	ADAMTS6,missense_variant,p.Tyr880Phe,ENST00000381055,NM_197941.2;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000314351,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000417396,;ADAMTS6,3_prime_UTR_variant,,ENST00000381052,;	A	ENST00000381055	Transcript	missense_variant	3496/7311	2639/3354	880/1117	Y/F	tAc/tTc		1		-1	ADAMTS6	HGNC	HGNC:222	protein_coding	YES	CCDS3983.2	ENSP00000370443	Q9UKP5		UPI000050D3F1	NM_197941.2	tolerated(0.58)		21/25		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF27,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	65197088	65197088	T	A	1	0	0	0	0	1	0	0	0	314	1638	57	4		4	ADAMTS6	5	65197088	Missense_Mutation	SNP	T	C3L-00144_TP	1235374	65197088	116341171	554	4833											
TRIM23	0	.	GRCh38	chr5	65596533	65596533	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtttccacgttaaaaccTgttttaaaaaaaaagttact	17	13	4	7	1	0	0	0	0	0	0	1	0	1	0	2	0	2	4	2	0	8	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1310-2A>T		p.X437_splice	ENST00000231524		114	105	9	116	116	0	strelka-varscan-mutect	TRIM23,splice_acceptor_variant,,ENST00000231524,NM_001656.3;TRIM23,splice_acceptor_variant,,ENST00000381018,NM_033227.2;TRIM23,splice_acceptor_variant,,ENST00000274327,NM_033228.2;	A	ENST00000231524	Transcript	splice_acceptor_variant	-/4186	1310/1725	437/574				1		-1	TRIM23	HGNC	HGNC:660	protein_coding	YES	CCDS3987.1	ENSP00000231524	P36406		UPI0000125DB3	NM_001656.3				8/10																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	12	65596533	65596533	T	A	1	0	0	0	0	0	0	1	0	16986	1594	55	4		4	TRIM23	5	65596533	Splice_Site	SNP	T	C3L-00144_TP	399445	65596533	115941726	555	4834											
NLN	0	.	GRCh38	chr5	65758656	65758656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcttcctatactgtggctgGcagaaatgttttaagatggg	9	14	12	6	0	1	2	0	0	1	2	2	2	2	2	1	3	1	3	1	3	4	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.131G>T	p.Gly44Val	p.G44V	ENST00000380985	2/13	383	262	121	348	347	1	strelka-varscan-mutect	NLN,missense_variant,p.Gly44Val,ENST00000380985,NM_020726.4;NLN,intron_variant,,ENST00000502464,;NLN,3_prime_UTR_variant,,ENST00000514991,;NLN,non_coding_transcript_exon_variant,,ENST00000506539,;	T	ENST00000380985	Transcript	missense_variant	309/8661	131/2115	44/704	G/V	gGc/gTc		1		1	NLN	HGNC	HGNC:16058	protein_coding	YES	CCDS3989.1	ENSP00000370372	Q9BYT8		UPI000003989D	NM_020726.4	tolerated(0.09)		2/13		hmmpanther:PTHR11804,hmmpanther:PTHR11804:SF44,Gene3D:2o36A01,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	65758656	65758656	G	T	1	0	0	0	0	1	0	0	0	10504	1203	42	2		2	NLN	5	65758656	Missense_Mutation	SNP	G	C3L-00144_TP	162123	65758656	115779603	556	4835											
ENC1	0	.	GRCh38	chr5	74636284	74636284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcctcaaagtagcgacTgcatgcagccagcactgccc	10	6	10	15	1	1	0	1	0	0	0	1	1	1	0	3	1	6	4	3	1	2	1			C3L-00144_TP	C3L-00144_NB	T	T																c.202A>G	p.Ser68Gly	p.S68G	ENST00000618628	3/4	197	126	71	158	158	0	strelka-varscan-mutect	ENC1,missense_variant,p.Ser68Gly,ENST00000618628,NM_001256574.1;ENC1,missense_variant,p.Ser68Gly,ENST00000302351,NM_003633.3,NM_001256575.1;ENC1,missense_variant,p.Ser68Gly,ENST00000537006,;ENC1,5_prime_UTR_variant,,ENST00000510316,NM_001256576.1;HEXB,upstream_gene_variant,,ENST00000511181,NM_001292004.1;ENC1,downstream_gene_variant,,ENST00000508331,;ENC1,downstream_gene_variant,,ENST00000509127,;ENC1,upstream_gene_variant,,ENST00000509284,;	C	ENST00000618628	Transcript	missense_variant	1470/5657	202/1770	68/589	S/G	Agt/Ggt	COSM4969529	1		-1	ENC1	HGNC	HGNC:3345	protein_coding	YES	CCDS4021.1	ENSP00000479101	O14682	Q53XS2	UPI0000129EBB	NM_001256574.1	deleterious(0)		3/4		PROSITE_profiles:PS50097,hmmpanther:PTHR24410:SF5,hmmpanther:PTHR24410,PIRSF_domain:PIRSF037037,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695											1						MODERATE	1	SNV	5		1	1										PASS		.	.												C	3	2	12	74636284	74636284	T	C	1	0	0	0	0	1	0	0	0	4955	1580	55	5		5	ENC1	5	74636284	Missense_Mutation	SNP	T	C3L-00144_TP	8877628	74636284	106901975	557	4836											
ANKRD31	0	.	GRCh38	chr5	75146119	75146119	+	Frame_Shift_Del	DEL	T	T	-																															ttctagatggttttgtctccTtttttcaactttagttgttt																								novel		C3L-00144_TP	C3L-00144_NB	T	T																c.3292delA	p.Arg1098GlyfsTer6	p.R1098Gfs*6	ENST00000274361	14/25	90	66	24	131	131	0	sindel-varindel	ANKRD31,frameshift_variant,p.Arg1098GlyfsTer6,ENST00000506364,;ANKRD31,frameshift_variant,p.Arg1098GlyfsTer6,ENST00000274361,NM_001164443.1;ANKRD31,intron_variant,,ENST00000504022,;	-	ENST00000274361	Transcript	frameshift_variant	3484/6036	3292/5622	1098/1873	R/X	Agg/gg		1		-1	ANKRD31	HGNC	HGNC:26853	protein_coding	YES	CCDS47233.1	ENSP00000274361	Q8N7Z5		UPI00001D7FAE	NM_001164443.1			14/25		hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF14																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	12	75146119	75146119	T	-	1	0	1	0	1	0	0	0	0	764	1608	56	0		0	ANKRD31	5	75146119	Frame_Shift_Del	DEL	T	C3L-00144_TP	509835	75146119	106392140	558	4837	111	3									
ANKRD31	0	.	GRCh38	chr5	75146120	75146120	+	Missense_Mutation	SNP	T	T	A																															tctagatggttttgtctcctTttttcaactttagttgtttc																								novel		C3L-00144_TP	C3L-00144_NB	T	T																c.3291A>T	p.Lys1097Asn	p.K1097N	ENST00000274361	14/25	96	71	25	131	131	0	strelka-mutect	ANKRD31,missense_variant,p.Lys1097Asn,ENST00000506364,;ANKRD31,missense_variant,p.Lys1097Asn,ENST00000274361,NM_001164443.1;ANKRD31,intron_variant,,ENST00000504022,;	A	ENST00000274361	Transcript	missense_variant	3483/6036	3291/5622	1097/1873	K/N	aaA/aaT		1		-1	ANKRD31	HGNC	HGNC:26853	protein_coding	YES	CCDS47233.1	ENSP00000274361	Q8N7Z5		UPI00001D7FAE	NM_001164443.1	deleterious(0.01)		14/25		hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF14																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	75146120	75146120	T	A	1	0	0	0	0	1	0	0	0	764	1838	64	4		4	ANKRD31	5	75146120	Missense_Mutation	SNP	T	C3L-00144_TP	1	75146120	106392139	559	4838	111	3									
ANKRD31	0	.	GRCh38	chr5	75146121	75146121	+	Missense_Mutation	SNP	T	T	A																															ctagatggttttgtctccttTtttcaactttagttgtttct																								novel		C3L-00144_TP	C3L-00144_NB	T	T																c.3290A>T	p.Lys1097Ile	p.K1097I	ENST00000274361	14/25	97	72	25	134	134	0	strelka-mutect	ANKRD31,missense_variant,p.Lys1097Ile,ENST00000506364,;ANKRD31,missense_variant,p.Lys1097Ile,ENST00000274361,NM_001164443.1;ANKRD31,intron_variant,,ENST00000504022,;	A	ENST00000274361	Transcript	missense_variant	3482/6036	3290/5622	1097/1873	K/I	aAa/aTa		1		-1	ANKRD31	HGNC	HGNC:26853	protein_coding	YES	CCDS47233.1	ENSP00000274361	Q8N7Z5		UPI00001D7FAE	NM_001164443.1	tolerated(0.05)		14/25		hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF14																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	75146121	75146121	T	A	1	0	0	0	0	1	0	0	0	764	1841	64	4		4	ANKRD31	5	75146121	Missense_Mutation	SNP	T	C3L-00144_TP	1	75146121	106392138	560	4839	111	3									
SV2C	0	.	GRCh38	chr5	76295839	76295839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcagtccgatgaatatGcattgctaaccagaaatgtg	12	11	9	9	1	1	2	0	1	1	1	2	3	2	2	2	0	4	3	2	0	4	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1399G>T	p.Ala467Ser	p.A467S	ENST00000502798	9/13	147	92	55	132	132	0	strelka-varscan-mutect	SV2C,missense_variant,p.Ala467Ser,ENST00000502798,NM_014979.3;SV2C,missense_variant,p.Ala467Ser,ENST00000322285,NM_001297716.1;RP11-466P24.6,intron_variant,,ENST00000502589,;SV2C,non_coding_transcript_exon_variant,,ENST00000506257,;	T	ENST00000502798	Transcript	missense_variant	1841/11035	1399/2184	467/727	A/S	Gca/Tca		1		1	SV2C	HGNC	HGNC:30670	protein_coding	YES	CCDS43331.1	ENSP00000423541	Q496J9		UPI000011DDBB	NM_014979.3	tolerated(0.57)		9/13		PROSITE_profiles:PS50850,hmmpanther:PTHR23511:SF6,hmmpanther:PTHR23511,TIGRFAM_domain:TIGR01299																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	76295839	76295839	G	T	1	0	0	0	0	1	0	0	0	15803	1319	46	2		2	SV2C	5	76295839	Missense_Mutation	SNP	G	C3L-00144_TP	1149718	76295839	105242420	561	4840											
VCAN	0	.	GRCh38	chr5	83539323	83539323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaagtcaaccctgtaaGacaagaaattgaaagtgaaa	20	6	9	6	0	1	5	1	2	0	3	1	5	1	5	1	0	1	2	1	0	8	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.6320G>T	p.Arg2107Ile	p.R2107I	ENST00000265077	8/15	325	225	100	289	289	0	strelka-varscan-mutect	VCAN,missense_variant,p.Arg2107Ile,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Arg1120Ile,ENST00000343200,NM_001164097.1;VCAN,missense_variant,p.Arg1120Ile,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	T	ENST00000265077	Transcript	missense_variant	6885/12625	6320/10191	2107/3396	R/I	aGa/aTa		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	tolerated(0.15)		8/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6																	MODERATE	1	SNV	1			1										PASS		rs1442972594	.												T	3	4	12	83539323	83539323	G	T	1	0	0	0	0	1	0	0	0	17683	942	33	2		2	VCAN	5	83539323	Missense_Mutation	SNP	G	C3L-00144_TP	7243484	83539323	97998936	562	4841											
GPR150	0	.	GRCh38	chr5	95620899	95620899	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggcgcgcccccggccgcCcgcgcctggccgggggagcg	2	1	18	20	8	0	0	0	0	0	0	0	1	0	1	7	5	1	0	7	5	0	0	rs778183807		C3L-00144_TP	C3L-00144_NB	C	C																c.624C>A	p.=	p.A208A	ENST00000380007	1/1	86	59	27	69	69	0	strelka-varscan-mutect	GPR150,synonymous_variant,p.=,ENST00000380007,NM_199243.1;	A	ENST00000380007	Transcript	synonymous_variant	822/2065	624/1305	208/434	A	gcC/gcA	rs778183807	1		1	GPR150	HGNC	HGNC:23628	protein_coding	YES	CCDS4074.1	ENSP00000369344	Q8NGU9	G4XH61	UPI000003BCD0	NM_199243.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF650,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs778183807	.												A	2	1	12	95620899	95620899	C	A	1	0	0	0	0	0	0	0	1	6542	610	22	2		2	GPR150	5	95620899	Silent	SNP	C	C3L-00144_TP	12081576	95620899	85917360	563	4842											
LIX1	0	.	GRCh38	chr5	97094954	97094954	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaattcctggtgagtcccGctccttcatgatccagtcca	8	11	8	14	1	1	2	1	2	0	0	6	3	6	2	5	1	0	1	5	1	1	2	rs373055209		C3L-00144_TP	C3L-00144_NB	G	G																c.643C>A	p.=	p.R215R	ENST00000274382	6/6	362	250	112	329	328	1	strelka-varscan-mutect	LIX1,synonymous_variant,p.=,ENST00000274382,NM_153234.4;CTD-2215E18.1,intron_variant,,ENST00000504578,;	T	ENST00000274382	Transcript	synonymous_variant	939/4026	643/849	215/282	R	Cgg/Agg	rs373055209,COSM1071509	1		-1	LIX1	HGNC	HGNC:18581	protein_coding	YES	CCDS4088.1	ENSP00000274382	Q8N485		UPI000007388A	NM_153234.4			6/6		Pfam_domain:PF14954,hmmpanther:PTHR31139											0,1						LOW	1	SNV	1		0,1	1										PASS		rs373055209	.												T	2	4	12	97094954	97094954	G	T	1	0	0	0	0	0	0	0	1	8754	1086	38	1		1	LIX1	5	97094954	Silent	SNP	G	C3L-00144_TP	1474055	97094954	84443305	564	4843											
EFNA5	0	.	GRCh38	chr5	107427216	107427216	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaatctctatatactcaCagatgtagaaatattctcgg	15	13	6	7	1	3	2	1	0	2	2	5	3	3	2	0	1	1	1	0	1	8	7	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.418+1G>T		p.X140_splice	ENST00000333274		156	114	42	179	179	0	strelka-varscan-mutect	EFNA5,splice_donor_variant,,ENST00000333274,NM_001962.2;EFNA5,splice_donor_variant,,ENST00000611503,;EFNA5,splice_donor_variant,,ENST00000509503,;EFNA5,downstream_gene_variant,,ENST00000505499,;EFNA5,non_coding_transcript_exon_variant,,ENST00000504941,;	A	ENST00000333274	Transcript	splice_donor_variant	-/5335	418/687	140/228				1		-1	EFNA5	HGNC	HGNC:3225	protein_coding	YES	CCDS4097.1	ENSP00000328777	P52803		UPI0000129C93	NM_001962.2				2/4																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	12	107427216	107427216	C	A	1	0	0	0	0	0	0	1	0	4790	492	17	2		2	EFNA5	5	107427216	Splice_Site	SNP	C	C3L-00144_TP	10332262	107427216	74111043	565	4844											
PJA2	0	.	GRCh38	chr5	109378621	109378621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactacaaatatgccctggaCcacaggctgcatcttcaggt	11	9	8	13	0	2	0	1	0	1	0	2	1	2	1	2	3	3	2	2	3	3	3	rs866537162		C3L-00144_TP	C3L-00144_NB	C	C																c.866G>T	p.Gly289Val	p.G289V	ENST00000361189	4/10	177	138	39	206	206	0	strelka-varscan-mutect	PJA2,missense_variant,p.Gly289Val,ENST00000361189,NM_014819.4;PJA2,missense_variant,p.Gly289Val,ENST00000361557,;PJA2,downstream_gene_variant,,ENST00000511624,;PJA2,downstream_gene_variant,,ENST00000512822,;	A	ENST00000361189	Transcript	missense_variant	1106/4889	866/2127	289/708	G/V	gGt/gTt	rs866537162	1		-1	PJA2	HGNC	HGNC:17481	protein_coding	YES	CCDS4099.1	ENSP00000354775	O43164		UPI000013D192	NM_014819.4	tolerated(0.41)		4/10		hmmpanther:PTHR15710,hmmpanther:PTHR15710:SF5																	MODERATE	1	SNV	1			1										PASS		rs866537162	.												A	3	1	12	109378621	109378621	C	A	1	0	0	0	0	1	0	0	0	12058	507	18	2		2	PJA2	5	109378621	Missense_Mutation	SNP	C	C3L-00144_TP	1951405	109378621	72159638	566	4845											
CAMK4	0	.	GRCh38	chr5	111484148	111484148	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaagatggcaacgaggaCatgaaagctattccagaagg	16	6	11	8	1	0	3	0	1	0	2	2	5	2	4	2	3	2	2	2	3	5	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1104C>G	p.Asp368Glu	p.D368E	ENST00000282356	11/11	94	72	22	82	82	0	strelka-varscan-mutect	CAMK4,missense_variant,p.Asp368Glu,ENST00000282356,NM_001323377.1,NM_001323376.1,NM_001323374.1,NM_001323375.1,NM_001744.4;CAMK4,missense_variant,p.Asp368Glu,ENST00000512453,;CAMK4,non_coding_transcript_exon_variant,,ENST00000512890,;CAMK4,non_coding_transcript_exon_variant,,ENST00000510858,;CAMK4,3_prime_UTR_variant,,ENST00000515231,;CAMK4,non_coding_transcript_exon_variant,,ENST00000509645,;CAMK4,downstream_gene_variant,,ENST00000514007,;	G	ENST00000282356	Transcript	missense_variant	1502/12240	1104/1422	368/473	D/E	gaC/gaG		1		1	CAMK4	HGNC	HGNC:1464	protein_coding	YES	CCDS4103.1	ENSP00000282356	Q16566		UPI000000128E	NM_001323377.1,NM_001323376.1,NM_001323374.1,NM_001323375.1,NM_001744.4	tolerated(0.23)		11/11																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	111484148	111484148	C	G	1	0	0	0	0	1	0	0	0	2296	477	17	4		4	CAMK4	5	111484148	Missense_Mutation	SNP	C	C3L-00144_TP	2105527	111484148	70054111	567	4846											
FEM1C	0	.	GRCh38	chr5	115524599	115524599	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatccgagtctctgacgttCacatcagcaccacattctat	10	12	5	14	2	5	1	3	1	2	0	7	2	6	1	2	0	1	2	2	0	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1563G>A	p.=	p.V521V	ENST00000274457	3/3	86	71	15	88	88	0	strelka-varscan-mutect	FEM1C,synonymous_variant,p.=,ENST00000274457,NM_020177.2;	T	ENST00000274457	Transcript	synonymous_variant	2125/5816	1563/1854	521/617	V	gtG/gtA		1		-1	FEM1C	HGNC	HGNC:16933	protein_coding	YES	CCDS4118.1	ENSP00000274457	Q96JP0		UPI0000046A79	NM_020177.2			3/3		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24173:SF14,hmmpanther:PTHR24173,Gene3D:1.25.40.20,Pfam_domain:PF13857,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	115524599	115524599	C	T	1	0	0	0	0	0	0	0	1	5674	813	29	3		3	FEM1C	5	115524599	Silent	SNP	C	C3L-00144_TP	4040451	115524599	66013660	568	4847											
SNCAIP	0	.	GRCh38	chr5	122451576	122451576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagggaaaccctgccagctCcgctagcaaaggaaagaata	16	4	10	11	1	0	1	0	0	0	1	1	3	1	3	3	2	4	3	3	2	7	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2870C>A	p.Ser957Tyr	p.S957Y	ENST00000261367	12/14	169	121	48	187	187	0	strelka-varscan-mutect	SNCAIP,missense_variant,p.Ser957Tyr,ENST00000261367,NM_001308100.1;SNCAIP,missense_variant,p.Ser910Tyr,ENST00000261368,NM_005460.2;SNCAIP,missense_variant,p.Ser850Tyr,ENST00000509154,;SNCAIP,missense_variant,p.Ser544Tyr,ENST00000379538,NM_001242935.1;SNCAIP,3_prime_UTR_variant,,ENST00000542191,;SNCAIP,3_prime_UTR_variant,,ENST00000504884,;SNCAIP,3_prime_UTR_variant,,ENST00000414317,;MGC32805,intron_variant,,ENST00000510972,;MGC32805,intron_variant,,ENST00000509993,;MGC32805,intron_variant,,ENST00000506053,;MGC32805,intron_variant,,ENST00000503529,;MGC32805,intron_variant,,ENST00000505546,;SNCAIP,3_prime_UTR_variant,,ENST00000395469,;SNCAIP,3_prime_UTR_variant,,ENST00000512385,;SNCAIP,3_prime_UTR_variant,,ENST00000508017,;SNCAIP,3_prime_UTR_variant,,ENST00000510658,;SNCAIP,3_prime_UTR_variant,,ENST00000509023,;SNCAIP,3_prime_UTR_variant,,ENST00000395466,;SNCAIP,3_prime_UTR_variant,,ENST00000512146,;SNCAIP,3_prime_UTR_variant,,ENST00000515215,;SNCAIP,non_coding_transcript_exon_variant,,ENST00000513719,;	A	ENST00000261367	Transcript	missense_variant	4298/4986	2870/3051	957/1016	S/Y	tCc/tAc		1		1	SNCAIP	HGNC	HGNC:11139	protein_coding	YES	CCDS78054.1	ENSP00000261367	Q9Y6H5		UPI000023272B	NM_001308100.1	tolerated(0.27)		12/14		hmmpanther:PTHR22882																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	122451576	122451576	C	A	1	0	0	0	0	1	0	0	0	15162	855	30	2		2	SNCAIP	5	122451576	Missense_Mutation	SNP	C	C3L-00144_TP	6926977	122451576	59086683	569	4848											
PRDM6	0	.	GRCh38	chr5	123090225	123090225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgccggacagcctgcgcCcgcggcccgcctctctctcc	2	6	10	23	6	2	0	0	0	2	0	5	1	3	1	7	2	2	0	7	2	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.211C>A	p.Pro71Thr	p.P71T	ENST00000407847	2/8	207	134	73	180	180	0	strelka-varscan-mutect	PRDM6,missense_variant,p.Pro71Thr,ENST00000407847,NM_001136239.1;AC106786.1,non_coding_transcript_exon_variant,,ENST00000458103,;AC106786.1,upstream_gene_variant,,ENST00000442777,;	A	ENST00000407847	Transcript	missense_variant	625/9267	211/1788	71/595	P/T	Ccg/Acg		1		1	PRDM6	HGNC	HGNC:9350	protein_coding	YES	CCDS47259.1	ENSP00000384725	Q9NQX0		UPI0001610E83	NM_001136239.1	tolerated_low_confidence(0.07)		2/8		Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	12	123090225	123090225	C	A	1	0	0	0	0	1	0	0	0	12592	623	22	2		2	PRDM6	5	123090225	Missense_Mutation	SNP	C	C3L-00144_TP	638649	123090225	58448034	570	4849											
MEGF10	0	.	GRCh38	chr5	127410504	127410504	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgcctctgtgaagcaggcTttgctggcgagcgctgcgaa	7	9	14	11	3	1	1	0	1	1	0	1	3	1	1	1	2	5	4	1	2	2	1	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1033T>A	p.Phe345Ile	p.F345I	ENST00000274473	10/26	482	336	146	406	406	0	strelka-varscan-mutect	MEGF10,missense_variant,p.Phe345Ile,ENST00000274473,NM_032446.2;MEGF10,missense_variant,p.Phe345Ile,ENST00000503335,NM_001256545.1;MEGF10,missense_variant,p.Phe345Ile,ENST00000508365,NM_001308121.1;MEGF10,missense_variant,p.Phe345Ile,ENST00000418761,;MEGF10,non_coding_transcript_exon_variant,,ENST00000515002,;	A	ENST00000274473	Transcript	missense_variant	1300/7594	1033/3423	345/1140	F/I	Ttt/Att		1		1	MEGF10	HGNC	HGNC:29634	protein_coding	YES	CCDS4142.1	ENSP00000274473	Q96KG7		UPI000006F868	NM_032446.2	deleterious(0)		10/26		Gene3D:2gy5A03,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF75,SMART_domains:SM00180,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	127410504	127410504	T	A	1	0	0	0	0	1	0	0	0	9400	1609	56	4		4	MEGF10	5	127410504	Missense_Mutation	SNP	T	C3L-00144_TP	4320279	127410504	54127755	571	4850											
SLC12A2	0	.	GRCh38	chr5	128148761	128148761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctttcattaggctctatGtaaggacaacatctacccag	11	14	6	10	0	4	0	1	0	3	0	4	1	4	1	1	2	2	2	1	2	5	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1889G>A	p.Cys630Tyr	p.C630Y	ENST00000262461	12/27	128	88	40	112	112	0	strelka-varscan-mutect	SLC12A2,missense_variant,p.Cys630Tyr,ENST00000262461,NM_001046.2;SLC12A2,missense_variant,p.Cys630Tyr,ENST00000343225,NM_001256461.1;SLC12A2,missense_variant,p.Cys630Tyr,ENST00000628403,;SLC12A2,missense_variant,p.Cys630Tyr,ENST00000509205,;	A	ENST00000262461	Transcript	missense_variant	2078/6885	1889/3639	630/1212	C/Y	tGt/tAt		1		1	SLC12A2	HGNC	HGNC:10911	protein_coding	YES	CCDS4144.1	ENSP00000262461	P55011	Q53ZR1	UPI000013541A	NM_001046.2	deleterious(0)		12/27		Pfam_domain:PF00324,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF58,TIGRFAM_domain:TIGR00930																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	128148761	128148761	G	A	1	0	0	0	0	1	0	0	0	14648	1377	48	3		3	SLC12A2	5	128148761	Missense_Mutation	SNP	G	C3L-00144_TP	738257	128148761	53389498	572	4851											
SLC27A6	0	.	GRCh38	chr5	129029691	129029691	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	accagcttatgcttgtccacGatttttaagaattcaggtaa	12	14	7	8	1	1	1	1	0	0	1	2	2	2	1	2	1	2	3	2	1	4	7	rs1898548		C3L-00144_TP	C3L-00144_NB	G	G																c.1667G>C	p.Arg556Pro	p.R556P	ENST00000262462	9/10	163	123	40	171	171	0	strelka-varscan-mutect	SLC27A6,missense_variant,p.Arg556Pro,ENST00000262462,;SLC27A6,missense_variant,p.Arg556Pro,ENST00000395266,NM_014031.3,NM_001017372.1;SLC27A6,missense_variant,p.Arg556Pro,ENST00000506176,;	C	ENST00000262462	Transcript	missense_variant	2677/3219	1667/1860	556/619	R/P	cGa/cCa	rs1898548	1		1	SLC27A6	HGNC	HGNC:11000	protein_coding	YES	CCDS4145.1	ENSP00000262462	Q9Y2P4		UPI0000038E83		deleterious(0.01)		9/10		hmmpanther:PTHR24096:SF98,hmmpanther:PTHR24096,Gene3D:3.30.300.30,Pfam_domain:PF13193,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		rs1898548	.												C	3	2	12	129029691	129029691	G	C	1	0	0	0	0	1	0	0	0	14800	1058	37	4		4	SLC27A6	5	129029691	Missense_Mutation	SNP	G	C3L-00144_TP	880930	129029691	52508568	573	4852											
ADAMTS19	0	.	GRCh38	chr5	129509230	129509230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcacagtcattactgtGgtatcatttcaggtaaatgc	10	15	7	9	0	5	0	4	0	1	0	5	0	5	0	0	2	2	2	0	2	4	5	rs767913138		C3L-00144_TP	C3L-00144_NB	G	G																c.883G>T	p.Gly295Cys	p.G295C	ENST00000274487	3/23	111	74	37	123	123	0	strelka-varscan-mutect	ADAMTS19,missense_variant,p.Gly295Cys,ENST00000274487,NM_133638.3;CTC-575N7.1,intron_variant,,ENST00000503616,;ADAMTS19,missense_variant,p.Gly80Cys,ENST00000502709,;ADAMTS19,3_prime_UTR_variant,,ENST00000505791,;	T	ENST00000274487	Transcript	missense_variant	1028/5234	883/3624	295/1207	G/C	Ggt/Tgt	rs767913138,COSM3136507,COSM5368242	1		1	ADAMTS19	HGNC	HGNC:17111	protein_coding	YES	CCDS4146.1	ENSP00000274487	Q8TE59		UPI000013DA0D	NM_133638.3	deleterious(0)		3/23		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF197											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs767913138	.												T	3	4	12	129509230	129509230	G	T	1	0	0	0	0	1	0	0	0	308	1348	47	2		2	ADAMTS19	5	129509230	Missense_Mutation	SNP	G	C3L-00144_TP	479539	129509230	52029029	574	4853											
ADAMTS19	0	.	GRCh38	chr5	129679893	129679893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagaagatctctgccaaagGtcctactacagcacctttac	12	9	8	12	0	1	2	0	0	1	2	3	3	2	2	3	2	5	1	3	2	5	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2618G>T	p.Gly873Val	p.G873V	ENST00000274487	17/23	68	49	19	82	82	0	strelka-varscan-mutect	ADAMTS19,missense_variant,p.Gly873Val,ENST00000274487,NM_133638.3;CTC-575N7.1,intron_variant,,ENST00000503616,;	T	ENST00000274487	Transcript	missense_variant	2763/5234	2618/3624	873/1207	G/V	gGt/gTt		1		1	ADAMTS19	HGNC	HGNC:17111	protein_coding	YES	CCDS4146.1	ENSP00000274487	Q8TE59		UPI000013DA0D	NM_133638.3	deleterious(0)		17/23		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF197,Pfam_domain:PF05986																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	129679893	129679893	G	T	1	0	0	0	0	1	0	0	0	308	1261	44	2		2	ADAMTS19	5	129679893	Missense_Mutation	SNP	G	C3L-00144_TP	170663	129679893	51858366	575	4854											
RAPGEF6	0	.	GRCh38	chr5	131464114	131464114	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgttttatgacaccctCaggagtaacagaaacttcac	12	12	6	11	0	3	2	2	1	1	1	4	3	3	3	1	1	2	2	1	1	3	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2407G>T	p.Glu803Ter	p.E803*	ENST00000296859	18/29	124	83	41	114	114	0	strelka-varscan-mutect	RAPGEF6,stop_gained,p.Glu803Ter,ENST00000509018,NM_016340.5;CTC-432M15.3,stop_gained,p.Glu853Ter,ENST00000514667,;RAPGEF6,stop_gained,p.Glu808Ter,ENST00000507093,NM_001164387.1;RAPGEF6,stop_gained,p.Glu803Ter,ENST00000296859,NM_001164386.1;RAPGEF6,stop_gained,p.Glu803Ter,ENST00000627212,NM_001164388.1;RAPGEF6,stop_gained,p.Glu803Ter,ENST00000308008,NM_001164389.1;RAPGEF6,stop_gained,p.Glu518Ter,ENST00000512052,;RAPGEF6,stop_gained,p.Glu803Ter,ENST00000510071,NM_001164390.1;RAPGEF6,stop_gained,p.Glu803Ter,ENST00000515170,;RAPGEF6,non_coding_transcript_exon_variant,,ENST00000504919,;	A	ENST00000296859	Transcript	stop_gained	2488/5618	2407/4830	803/1609	E/*	Gag/Tag		1		-1	RAPGEF6	HGNC	HGNC:20655	protein_coding	YES	CCDS54900.1	ENSP00000296859	Q8TEU7		UPI000189A836	NM_001164386.1			18/29		Pfam_domain:PF00788,PROSITE_profiles:PS50200,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF222,SMART_domains:SM00314																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	131464114	131464114	C	A	1	0	0	0	0	0	1	0	0	13207	835	29	2		2	RAPGEF6	5	131464114	Nonsense_Mutation	SNP	C	C3L-00144_TP	1784221	131464114	50074145	576	4855											
SLC22A5	0	.	GRCh38	chr5	132370198	132370198	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctgcgggacggccgcGaggtgccccacagctgccgc	4	4	17	16	6	0	0	0	0	0	0	0	2	0	1	4	4	5	2	4	4	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.226G>T	p.Glu76Ter	p.E76*	ENST00000435065	1/11	161	99	62	182	181	1	strelka-varscan-mutect	SLC22A5,stop_gained,p.Glu76Ter,ENST00000245407,NM_003060.3;SLC22A5,stop_gained,p.Glu76Ter,ENST00000435065,NM_001308122.1;SLC22A5,upstream_gene_variant,,ENST00000415928,;MIR3936,upstream_gene_variant,,ENST00000584304,;AC034220.3,upstream_gene_variant,,ENST00000621103,;AC034220.3,upstream_gene_variant,,ENST00000457998,;SLC22A5,stop_gained,p.Glu76Ter,ENST00000437841,;	T	ENST00000435065	Transcript	stop_gained	226/1746	226/1746	76/581	E/*	Gag/Tag		1		1	SLC22A5	HGNC	HGNC:10969	protein_coding	YES	CCDS78058.1	ENSP00000402760	O76082		UPI0000EFD9B4	NM_001308122.1			1/11		hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF283																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	132370198	132370198	G	T	1	0	0	0	0	0	1	0	0	14723	1059	37	1		1	SLC22A5	5	132370198	Nonsense_Mutation	SNP	G	C3L-00144_TP	906084	132370198	49168061	577	4856											
SLC25A48	0	.	GRCh38	chr5	135874097	135874097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgatggggtttatttaaaCaaatataaaggtgtcctgga	13	13	11	4	0	0	1	0	1	0	0	1	2	1	2	1	4	1	2	1	4	7	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.594C>A	p.Asn198Lys	p.N198K	ENST00000433282	6/7	75	57	18	82	82	0	strelka-varscan-mutect	SLC25A48,missense_variant,p.Asn198Lys,ENST00000433282,;SLC25A48,intron_variant,,ENST00000425402,;SLC25A48,intron_variant,,ENST00000412661,NM_145282.4;SLC25A48,downstream_gene_variant,,ENST00000274513,;SLC25A48,downstream_gene_variant,,ENST00000462340,;	A	ENST00000433282	Transcript	missense_variant	890/1111	594/774	198/257	N/K	aaC/aaA		1		1	SLC25A48	HGNC	HGNC:30451	protein_coding			ENSP00000399834		J3KQI1	UPI0001D3B7D8		tolerated(0.77)		6/7		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF270,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	12	135874097	135874097	C	A	1	0	0	0	0	1	0	0	0	14778	477	17	2		2	SLC25A48	5	135874097	Missense_Mutation	SNP	C	C3L-00144_TP	3503899	135874097	45664162	578	4857											
KLHL3	0	.	GRCh38	chr5	137628382	137628382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcaacgctcttcctcacCaaaggcccatcatgcccacc	10	7	4	20	1	4	0	3	0	1	0	5	0	5	0	6	1	2	1	6	1	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1506G>T	p.Leu502Phe	p.L502F	ENST00000309755	13/15	303	217	86	252	252	0	strelka-varscan-mutect	KLHL3,missense_variant,p.Leu470Phe,ENST00000508657,NM_001257194.1;KLHL3,missense_variant,p.Leu502Phe,ENST00000309755,NM_017415.2;KLHL3,missense_variant,p.Leu420Phe,ENST00000506491,NM_001257195.1;KLHL3,non_coding_transcript_exon_variant,,ENST00000506873,;KLHL3,3_prime_UTR_variant,,ENST00000504208,;KLHL3,non_coding_transcript_exon_variant,,ENST00000447439,;KLHL3,non_coding_transcript_exon_variant,,ENST00000509694,;	A	ENST00000309755	Transcript	missense_variant	1950/6806	1506/1764	502/587	L/F	ttG/ttT		1		-1	KLHL3	HGNC	HGNC:6354	protein_coding	YES	CCDS4192.1	ENSP00000312397	Q9UH77		UPI000012DE05	NM_017415.2	tolerated(0.14)		13/15		Superfamily_domains:0052715,Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF179,SMART_domains:SM00612																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	137628382	137628382	C	A	1	0	0	0	0	1	0	0	0	8248	593	21	2		2	KLHL3	5	137628382	Missense_Mutation	SNP	C	C3L-00144_TP	1754285	137628382	43909877	579	4858											
KDM3B	0	.	GRCh38	chr5	138391372	138391372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttggaacagacactaaGccaggctctaaggctggcag	11	8	12	10	0	2	1	0	0	2	1	2	2	2	2	1	4	2	4	1	4	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1740G>T	p.Lys580Asn	p.K580N	ENST00000314358	8/24	73	58	15	73	73	0	strelka-varscan-mutect	KDM3B,missense_variant,p.Lys580Asn,ENST00000314358,NM_016604.3;KDM3B,intron_variant,,ENST00000542866,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,intron_variant,,ENST00000507996,;	T	ENST00000314358	Transcript	missense_variant	1940/6813	1740/5286	580/1761	K/N	aaG/aaT		1		1	KDM3B	HGNC	HGNC:1337	protein_coding	YES	CCDS34242.1	ENSP00000326563	Q7LBC6		UPI000020C6A8	NM_016604.3	tolerated_low_confidence(0.15)		8/24		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8																	MODERATE	1	SNV	1			1										PASS		rs1275402657	.												T	3	4	12	138391372	138391372	G	T	1	0	0	0	0	1	0	0	0	8045	962	34	2		2	KDM3B	5	138391372	Missense_Mutation	SNP	G	C3L-00144_TP	762990	138391372	43146887	580	4859											
KDM3B	0	.	GRCh38	chr5	138431517	138431517	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcctgactcaggaattcagGcatctctctaacactcatac	11	10	6	14	1	5	1	3	1	2	0	6	2	5	2	1	2	2	1	1	2	3	3			C3L-00144_TP	C3L-00144_NB	G	G																c.5163G>A	p.=	p.R1721R	ENST00000314358	23/24	126	83	43	99	99	0	strelka-varscan-mutect	KDM3B,synonymous_variant,p.=,ENST00000314358,NM_016604.3;KDM3B,synonymous_variant,p.=,ENST00000542866,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;KDM3B,downstream_gene_variant,,ENST00000509468,;	A	ENST00000314358	Transcript	synonymous_variant	5363/6813	5163/5286	1721/1761	R	agG/agA	COSM4953478	1		1	KDM3B	HGNC	HGNC:1337	protein_coding	YES	CCDS34242.1	ENSP00000326563	Q7LBC6		UPI000020C6A8	NM_016604.3			23/24		PROSITE_profiles:PS51184,hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8,SMART_domains:SM00558,Superfamily_domains:SSF51197											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	12	138431517	138431517	G	A	1	0	0	0	0	0	0	0	1	8045	1194	42	3		3	KDM3B	5	138431517	Silent	SNP	G	C3L-00144_TP	40145	138431517	43106742	581	4860											
SLC35A4	0	.	GRCh38	chr5	140567539	140567539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagtaatctcaagattGgaagcacagctgtgctctac	11	11	10	9	0	2	2	1	1	2	1	3	3	2	3	0	1	5	5	0	1	4	3			C3L-00144_TP	C3L-00144_NB	G	G																c.370G>A	p.Gly124Arg	p.G124R	ENST00000514199	2/2	326	307	19	302	302	0	strelka-varscan-mutect	SLC35A4,missense_variant,p.Gly124Arg,ENST00000514199,;SLC35A4,missense_variant,p.Gly124Arg,ENST00000323146,NM_080670.3;SLC35A4,missense_variant,p.Gly124Arg,ENST00000612662,;APBB3,upstream_gene_variant,,ENST00000357560,NM_133173.2;APBB3,upstream_gene_variant,,ENST00000358580,;APBB3,upstream_gene_variant,,ENST00000354402,NM_006051.3;APBB3,upstream_gene_variant,,ENST00000356738,NM_133172.2;APBB3,upstream_gene_variant,,ENST00000412920,NM_133174.2;APBB3,upstream_gene_variant,,ENST00000511201,;SLC35A4,downstream_gene_variant,,ENST00000623481,;APBB3,upstream_gene_variant,,ENST00000617240,;AC011380.9,intron_variant,,ENST00000507279,;AC011380.9,intron_variant,,ENST00000513766,;APBB3,upstream_gene_variant,,ENST00000505617,;AC011380.8,downstream_gene_variant,,ENST00000636851,;APBB3,upstream_gene_variant,,ENST00000510241,;APBB3,upstream_gene_variant,,ENST00000515056,;APBB3,upstream_gene_variant,,ENST00000511896,;APBB3,upstream_gene_variant,,ENST00000509914,;APBB3,upstream_gene_variant,,ENST00000467078,;APBB3,upstream_gene_variant,,ENST00000506958,;APBB3,upstream_gene_variant,,ENST00000506289,;APBB3,upstream_gene_variant,,ENST00000503979,;APBB3,upstream_gene_variant,,ENST00000513507,;APBB3,upstream_gene_variant,,ENST00000503850,;APBB3,upstream_gene_variant,,ENST00000506165,;APBB3,upstream_gene_variant,,ENST00000511459,;AC011380.8,downstream_gene_variant,,ENST00000638148,;	A	ENST00000514199	Transcript	missense_variant	2056/3617	370/975	124/324	G/R	Gga/Aga	COSM448700	1		1	SLC35A4	HGNC	HGNC:20753	protein_coding	YES	CCDS4231.1	ENSP00000424566	Q96G79		UPI0000036D2F		deleterious(0.03)		2/2		hmmpanther:PTHR10231:SF25,hmmpanther:PTHR10231,PIRSF_domain:PIRSF005799,Pfam_domain:PF04142,Superfamily_domains:0043518											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	140567539	140567539	G	A	1	0	0	0	0	1	0	0	0	14843	1349	47	3		3	SLC35A4	5	140567539	Missense_Mutation	SNP	G	C3L-00144_TP	2136022	140567539	40970720	582	4861											
ZMAT2	0	.	GRCh38	chr5	140702129	140702129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctcaatctgagatgggagGgtgagttgcttatcattttt	8	15	11	7	0	3	2	2	2	1	1	3	4	3	3	1	2	1	2	1	2	2	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.236G>T	p.Gly79Val	p.G79V	ENST00000274712	3/6	99	61	38	98	97	1	strelka-varscan	ZMAT2,missense_variant,p.Gly79Val,ENST00000274712,NM_144723.1;ZMAT2,missense_variant,p.Gly3Val,ENST00000519913,;HARS2,downstream_gene_variant,,ENST00000230771,NM_012208.3;HARS2,downstream_gene_variant,,ENST00000508522,NM_001278731.1;HARS2,downstream_gene_variant,,ENST00000448069,;ZMAT2,missense_variant,p.Gly78Val,ENST00000506644,;	T	ENST00000274712	Transcript	missense_variant,splice_region_variant	363/1647	236/600	79/199	G/V	gGa/gTa		1		1	ZMAT2	HGNC	HGNC:26433	protein_coding	YES	CCDS4239.1	ENSP00000274712	Q96NC0		UPI0000029931	NM_144723.1	deleterious(0)		3/6		hmmpanther:PTHR23067,SMART_domains:SM00451,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	140702129	140702129	G	T	1	0	0	0	0	1	0	0	0	18272	1246	43	2		2	ZMAT2	5	140702129	Missense_Mutation	SNP	G	C3L-00144_TP	134590	140702129	40836130	583	4862											
PCDHA2	0	.	GRCh38	chr5	140795065	140795065	+	Frame_Shift_Del	DEL	C	C	-																															gagcggccagctccgctactCcgtccccgaggaggccaaac																										C3L-00144_TP	C3L-00144_NB	C	C																c.102delC	p.Val35SerfsTer43	p.V35Sfs*43	ENST00000526136	1/4	321	231	90	425	425	0	sindel-varindel	PCDHA2,frameshift_variant,p.Val35SerfsTer43,ENST00000526136,NM_018905.2;PCDHA2,frameshift_variant,p.Val35SerfsTer43,ENST00000520672,NM_031496.1;PCDHA2,frameshift_variant,p.Val35SerfsTer43,ENST00000378132,NM_031495.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,intron_variant,,ENST00000624176,;	-	ENST00000526136	Transcript	frameshift_variant	101/5254	101/2847	34/948	S/X	tCc/tc	COSM5301598,COSM5301599	1		1	PCDHA2	HGNC	HGNC:8668	protein_coding	YES	CCDS54914.1	ENSP00000431748	Q9Y5H9		UPI00001273C9	NM_018905.2			1/4		Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						HIGH	1	deletion	1	1	1,1	1										PASS		.	.												-	7	5	12	140795065	140795065	C	-	1	0	1	0	1	0	0	0	0	11611	855	30	0		0	PCDHA2	5	140795065	Frame_Shift_Del	DEL	C	C3L-00144_TP	92936	140795065	40743194	584	4863	112	3									
PCDHA2	0	.	GRCh38	chr5	140795066	140795066	+	Silent	SNP	C	C	A																															agcggccagctccgctactcCgtccccgaggaggccaaaca																								rs782150347		C3L-00144_TP	C3L-00144_NB	C	C																c.102C>A	p.=	p.S34S	ENST00000526136	1/4	340	248	92	433	433	0	strelka-mutect	PCDHA2,synonymous_variant,p.=,ENST00000526136,NM_018905.2;PCDHA2,synonymous_variant,p.=,ENST00000520672,NM_031496.1;PCDHA2,synonymous_variant,p.=,ENST00000378132,NM_031495.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,intron_variant,,ENST00000624176,;	A	ENST00000526136	Transcript	synonymous_variant	102/5254	102/2847	34/948	S	tcC/tcA	rs782150347,COSM1719884,COSM1719885,COSM5301600,COSM5301601	1		1	PCDHA2	HGNC	HGNC:8668	protein_coding	YES	CCDS54914.1	ENSP00000431748	Q9Y5H9		UPI00001273C9	NM_018905.2			1/4		Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1,1,1						LOW	1	SNV	1		0,1,1,1,1	1										PASS		rs782150347	.												A	2	1	12	140795066	140795066	C	A	1	0	0	0	0	0	0	0	1	11611	639	23	1		1	PCDHA2	5	140795066	Silent	SNP	C	C3L-00144_TP	1	140795066	40743193	585	4864	112	3									
PCDHA2	0	.	GRCh38	chr5	140795068	140795068	+	Missense_Mutation	SNP	T	T	G																															cggccagctccgctactccgTccccgaggaggccaaacacg																								novel		C3L-00144_TP	C3L-00144_NB	T	T																c.104T>G	p.Val35Gly	p.V35G	ENST00000526136	1/4	352	257	95	447	447	0	strelka-varscan-mutect	PCDHA2,missense_variant,p.Val35Gly,ENST00000526136,NM_018905.2;PCDHA2,missense_variant,p.Val35Gly,ENST00000520672,NM_031496.1;PCDHA2,missense_variant,p.Val35Gly,ENST00000378132,NM_031495.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,intron_variant,,ENST00000624176,;	G	ENST00000526136	Transcript	missense_variant	104/5254	104/2847	35/948	V/G	gTc/gGc		1		1	PCDHA2	HGNC	HGNC:8668	protein_coding	YES	CCDS54914.1	ENSP00000431748	Q9Y5H9		UPI00001273C9	NM_018905.2	deleterious_low_confidence(0)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	140795068	140795068	T	G	1	0	0	0	0	1	0	0	0	11611	1667	58	5		5	PCDHA2	5	140795068	Missense_Mutation	SNP	T	C3L-00144_TP	2	140795068	40743191	586	4865	112	3									
PCDHA2	0	.	GRCh38	chr5	140797083	140797083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatcatcgccatctgcgcgGtatccagcctgttggtgctc	5	12	11	13	3	2	1	1	1	1	0	5	1	3	1	3	2	3	3	3	2	1	2			C3L-00144_TP	C3L-00144_NB	G	G																c.2119G>T	p.Val707Leu	p.V707L	ENST00000526136	1/4	502	338	164	524	523	1	strelka-varscan-mutect	PCDHA2,missense_variant,p.Val707Leu,ENST00000526136,NM_018905.2;PCDHA2,missense_variant,p.Val707Leu,ENST00000520672,NM_031496.1;PCDHA2,missense_variant,p.Val707Leu,ENST00000378132,NM_031495.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA3,upstream_gene_variant,,ENST00000522353,NM_018906.2;PCDHA3,upstream_gene_variant,,ENST00000532566,NM_031497.1;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,intron_variant,,ENST00000624176,;	T	ENST00000526136	Transcript	missense_variant	2119/5254	2119/2847	707/948	V/L	Gta/Tta	COSM362370,COSM362371	1		1	PCDHA2	HGNC	HGNC:8668	protein_coding	YES	CCDS54914.1	ENSP00000431748	Q9Y5H9		UPI00001273C9	NM_018905.2	deleterious_low_confidence(0.02)		1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,Low_complexity_(Seg):seg											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	12	140797083	140797083	G	T	1	0	0	0	0	1	0	0	0	11611	1261	44	2		2	PCDHA2	5	140797083	Missense_Mutation	SNP	G	C3L-00144_TP	2015	140797083	40741176	587	4866											
PCDHA4	0	.	GRCh38	chr5	140808477	140808477	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtgaccgcgcgagacggGggctcgccttcgctgtgggc	3	7	19	12	6	0	2	0	1	0	1	2	3	0	2	2	4	0	2	2	4	0	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1290G>T	p.=	p.G430G	ENST00000530339	1/4	505	349	156	496	494	2	strelka-varscan-mutect	PCDHA4,synonymous_variant,p.=,ENST00000618834,NM_031500.2;PCDHA4,synonymous_variant,p.=,ENST00000530339,NM_018907.3;PCDHA4,synonymous_variant,p.=,ENST00000512229,;PCDHA4,synonymous_variant,p.=,ENST00000378125,;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA3,downstream_gene_variant,,ENST00000532566,NM_031497.1;PCDHA2,downstream_gene_variant,,ENST00000520672,NM_031496.1;AC005609.16,intron_variant,,ENST00000624712,;	T	ENST00000530339	Transcript	synonymous_variant	1290/5251	1290/2844	430/947	G	ggG/ggT		1		1	PCDHA4	HGNC	HGNC:8670	protein_coding	YES	CCDS54916.1	ENSP00000435300	Q9UN74		UPI00001273CC	NM_018907.3			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF82,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	140808477	140808477	G	T	1	0	0	0	0	0	0	0	1	11613	1219	43	2		2	PCDHA4	5	140808477	Silent	SNP	G	C3L-00144_TP	11394	140808477	40729782	588	4867											
PCDHA5	0	.	GRCh38	chr5	140823977	140823977	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgtgtgcacacggggCaagcccactctgttgtgctc	6	8	14	13	2	1	0	0	0	1	0	2	1	1	0	2	3	3	4	2	3	1	1	rs563481836		C3L-00144_TP	C3L-00144_NB	C	C																c.2202C>A	p.=	p.G734G	ENST00000529859	1/4	194	137	57	200	200	0	strelka-varscan-mutect	PCDHA5,synonymous_variant,p.=,ENST00000529859,NM_018908.2;PCDHA5,synonymous_variant,p.=,ENST00000614258,NM_031501.1;PCDHA5,synonymous_variant,p.=,ENST00000529619,;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA4,intron_variant,,ENST00000512229,;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA6,upstream_gene_variant,,ENST00000529310,NM_018909.3;PCDHA6,upstream_gene_variant,,ENST00000378126,NM_031848.2;PCDHA6,upstream_gene_variant,,ENST00000527624,NM_031849.2;AC005609.16,upstream_gene_variant,,ENST00000624712,;	A	ENST00000529859	Transcript	synonymous_variant	2202/5218	2202/2811	734/936	G	ggC/ggA	rs563481836	1		1	PCDHA5	HGNC	HGNC:8671	protein_coding	YES	CCDS54917.1	ENSP00000436557	Q9Y5H7		UPI00001273CD	NM_018908.2			1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111																	LOW	1	SNV	1			1										PASS		rs563481836	.												A	2	1	12	140823977	140823977	C	A	1	0	0	0	0	0	0	0	1	11614	697	25	2		2	PCDHA5	5	140823977	Silent	SNP	C	C3L-00144_TP	15500	140823977	40714282	589	4868											
PCDHB1	0	.	GRCh38	chr5	141053567	141053567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctctggtcatcctttcCtttctctttctcctctctgt	2	22	3	14	0	5	0	1	0	4	0	11	0	7	0	3	1	0	0	3	1	0	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2097C>T	p.=	p.S699S	ENST00000306549	1/1	174	122	52	183	183	0	strelka-varscan-mutect	PCDHB1,synonymous_variant,p.=,ENST00000306549,NM_013340.3;CTC-270D5.1,intron_variant,,ENST00000624139,;CTC-270D5.1,intron_variant,,ENST00000624778,;CTC-270D5.1,intron_variant,,ENST00000623741,;CTC-270D5.1,downstream_gene_variant,,ENST00000623109,;	T	ENST00000306549	Transcript	synonymous_variant	2433/8210	2097/2457	699/818	S	tcC/tcT		1		1	PCDHB1	HGNC	HGNC:8680	protein_coding	YES	CCDS4243.1	ENSP00000307234	Q9Y5F3		UPI000013EB56	NM_013340.3			1/1		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF12,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW		SNV				1										PASS		.	.												T	2	4	12	141053567	141053567	C	T	1	0	0	0	0	0	0	0	1	11621	668	24	3		3	PCDHB1	5	141053567	Silent	SNP	C	C3L-00144_TP	229590	141053567	40484692	590	4869											
PCDHB2	0	.	GRCh38	chr5	141095509	141095509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgtggacatcaatgacaAcgtcccagagtttgcaaagc	13	9	10	9	1	1	2	1	1	0	1	2	3	2	3	1	1	3	3	1	1	3	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.719A>G	p.Asn240Ser	p.N240S	ENST00000194155	1/1	141	122	19	135	135	0	strelka-varscan-mutect	PCDHB2,missense_variant,p.Asn240Ser,ENST00000194155,NM_018936.3;PCDHB2,3_prime_UTR_variant,,ENST00000622947,;PCDHB2,3_prime_UTR_variant,,ENST00000624874,;PCDHB2,3_prime_UTR_variant,,ENST00000625033,;PCDHB3,upstream_gene_variant,,ENST00000231130,NM_018937.4;PCDHB2,upstream_gene_variant,,ENST00000624994,;CTC-270D5.1,intron_variant,,ENST00000623741,;AC005754.7,downstream_gene_variant,,ENST00000607216,;CTC-270D5.1,downstream_gene_variant,,ENST00000623615,;AC005754.7,downstream_gene_variant,,ENST00000625128,;AC005754.7,downstream_gene_variant,,ENST00000625066,;	G	ENST00000194155	Transcript	missense_variant	932/4126	719/2397	240/798	N/S	aAc/aGc		1		1	PCDHB2	HGNC	HGNC:8687	protein_coding	YES	CCDS4244.1	ENSP00000194155	Q9Y5E7		UPI00001273DC	NM_018936.3	deleterious_low_confidence(0)		1/1		Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												G	3	3	12	141095509	141095509	A	G	1	0	0	0	0	1	0	0	0	11629	43	2	5		5	PCDHB2	5	141095509	Missense_Mutation	SNP	A	C3L-00144_TP	41942	141095509	40442750	591	4870											
PCDHB3	0	.	GRCh38	chr5	141102387	141102387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgagctggtgccccgggcgGctgagccgggctacctggtg	3	6	18	14	4	0	1	0	1	0	0	0	2	0	1	5	5	4	3	5	5	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1738G>A	p.Ala580Thr	p.A580T	ENST00000231130	1/1	529	394	135	661	661	0	strelka-varscan-mutect	PCDHB3,missense_variant,p.Ala580Thr,ENST00000231130,NM_018937.4;PCDHB2,downstream_gene_variant,,ENST00000194155,NM_018936.3;PCDHB3,upstream_gene_variant,,ENST00000624513,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;AC005754.7,upstream_gene_variant,,ENST00000607216,;	A	ENST00000231130	Transcript	missense_variant	1915/3355	1738/2391	580/796	A/T	Gct/Act		1		1	PCDHB3	HGNC	HGNC:8688	protein_coding	YES	CCDS4245.1	ENSP00000231130	Q9Y5E6		UPI0003CC25DF	NM_018937.4	deleterious_low_confidence(0)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		rs1215156371	.												A	3	1	12	141102387	141102387	G	A	1	0	0	0	0	1	0	0	0	11630	1203	42	3		3	PCDHB3	5	141102387	Missense_Mutation	SNP	G	C3L-00144_TP	6878	141102387	40435872	592	4871											
PCDHB8	0	.	GRCh38	chr5	141178232	141178232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctccaggcggggggttagGgttgtttccagagggaacaa	8	10	16	7	1	1	1	0	0	1	1	3	2	2	2	2	6	1	3	2	6	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.198G>T	p.Arg66Ser	p.R66S	ENST00000239444	1/1	51	31	20	64	64	0	strelka-varscan-mutect	PCDHB8,missense_variant,p.Arg66Ser,ENST00000239444,NM_019120.4;PCDHB16,upstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.3;PCDHB16,upstream_gene_variant,,ENST00000625044,;CH17-140K24.5,upstream_gene_variant,,ENST00000623884,;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,upstream_gene_variant,,ENST00000625128,;AC005754.7,upstream_gene_variant,,ENST00000624802,;CH17-140K24.4,intron_variant,,ENST00000623995,;CH17-140K24.5,upstream_gene_variant,,ENST00000623407,;	T	ENST00000239444	Transcript	missense_variant	443/2740	198/2406	66/801	R/S	agG/agT		1		1	PCDHB8	HGNC	HGNC:8693	protein_coding	YES	CCDS4250.1	ENSP00000239444	Q9UN66		UPI000192C41A	NM_019120.4	deleterious_low_confidence(0)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028,Pfam_domain:PF08266,SMART_domains:SM00112																	MODERATE		SNV				1										PASS		.	.												T	3	4	12	141178232	141178232	G	T	1	0	0	0	0	1	0	0	0	11635	1223	43	2		2	PCDHB8	5	141178232	Missense_Mutation	SNP	G	C3L-00144_TP	75845	141178232	40360027	593	4872											
PCDHB14	0	.	GRCh38	chr5	141224319	141224319	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctaaggatctggatgcaGgaaactatggaaaaatatct	16	9	10	6	0	2	0	0	0	2	0	2	4	2	4	0	4	3	2	0	4	6	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.814G>T	p.Gly272Ter	p.G272*	ENST00000239449	1/1	161	127	34	130	128	2	strelka-varscan-mutect	PCDHB14,stop_gained,p.Gly272Ter,ENST00000239449,NM_018934.3;PCDHB14,stop_gained,p.Gly119Ter,ENST00000624896,;CH17-140K24.8,intron_variant,,ENST00000624396,;CH17-140K24.2,intron_variant,,ENST00000624192,;	T	ENST00000239449	Transcript	stop_gained	1388/4828	814/2397	272/798	G/*	Gga/Tga		1		1	PCDHB14	HGNC	HGNC:8685	protein_coding	YES	CCDS4256.1	ENSP00000239449	Q9Y5E9		UPI00001273E7	NM_018934.3			1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81,SMART_domains:SM00112,Superfamily_domains:SSF49313																	HIGH		SNV				1										PASS		.	.												T	4	4	12	141224319	141224319	G	T	1	0	0	0	0	0	1	0	0	11626	1001	35	2		2	PCDHB14	5	141224319	Nonsense_Mutation	SNP	G	C3L-00144_TP	46087	141224319	40313940	594	4873											
PCDHB14	0	.	GRCh38	chr5	141225355	141225355	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccgggctgttcggcgTgtgggcgcacaatggcgagg	5	6	20	10	5	0	0	0	0	0	0	1	2	0	1	1	6	1	3	1	6	1	1	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1850T>A	p.Val617Glu	p.V617E	ENST00000239449	1/1	296	239	57	283	283	0	strelka-varscan-mutect	PCDHB14,missense_variant,p.Val617Glu,ENST00000239449,NM_018934.3;PCDHB14,missense_variant,p.Val464Glu,ENST00000624896,;CH17-140K24.8,intron_variant,,ENST00000624396,;CH17-140K24.2,intron_variant,,ENST00000624192,;	A	ENST00000239449	Transcript	missense_variant	2424/4828	1850/2397	617/798	V/E	gTg/gAg		1		1	PCDHB14	HGNC	HGNC:8685	protein_coding	YES	CCDS4256.1	ENSP00000239449	Q9Y5E9		UPI00001273E7	NM_018934.3	deleterious_low_confidence(0)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												A	3	1	12	141225355	141225355	T	A	1	0	0	0	0	1	0	0	0	11626	1696	59	4		4	PCDHB14	5	141225355	Missense_Mutation	SNP	T	C3L-00144_TP	1036	141225355	40312904	595	4874											
PCDHGB3	0	.	GRCh38	chr5	141371281	141371281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaactgttcaagctggacaGtaaaacgggggaactcacca	15	6	10	10	1	2	0	2	0	0	0	2	2	2	2	1	3	4	3	1	3	5	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.887G>T	p.Ser296Ile	p.S296I	ENST00000576222	1/4	229	161	68	190	190	0	strelka-varscan-mutect	PCDHGB3,missense_variant,p.Ser296Ile,ENST00000576222,NM_018924.4;PCDHGB3,missense_variant,p.Ser296Ile,ENST00000618934,NM_032097.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA6,upstream_gene_variant,,ENST00000610583,NM_032086.1;PCDHGA6,upstream_gene_variant,,ENST00000517434,NM_018919.2;PCDHGA5,downstream_gene_variant,,ENST00000611914,NM_032054.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000576222	Transcript	missense_variant	1018/4727	887/2790	296/929	S/I	aGt/aTt		1		1	PCDHGB3	HGNC	HGNC:8710	protein_coding	YES	CCDS58980.1	ENSP00000461862	Q9Y5G1		UPI0000EE35B5	NM_018924.4	tolerated(0.06)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	141371281	141371281	G	T	1	0	0	0	0	1	0	0	0	11651	1029	36	2		2	PCDHGB3	5	141371281	Missense_Mutation	SNP	G	C3L-00144_TP	145926	141371281	40166978	596	4875											
PCDHGA6	0	.	GRCh38	chr5	141376126	141376126	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcagcctcgagccctcCgccaaacccaacgattcgga	9	5	10	17	4	0	0	0	0	0	0	3	3	1	1	5	2	4	1	5	2	2	1	rs770848918		C3L-00144_TP	C3L-00144_NB	C	C																c.2043C>A	p.=	p.S681S	ENST00000517434	1/4	266	181	85	292	292	0	strelka-varscan-mutect	PCDHGA6,synonymous_variant,p.=,ENST00000610583,NM_032086.1;PCDHGA6,synonymous_variant,p.=,ENST00000517434,NM_018919.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB3,downstream_gene_variant,,ENST00000618934,NM_032097.2;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000517434	Transcript	synonymous_variant	2213/4775	2043/2799	681/932	S	tcC/tcA	rs770848918,COSM3975268,COSM3975269	1		1	PCDHGA6	HGNC	HGNC:8704	protein_coding	YES	CCDS54926.1	ENSP00000429601	Q9Y5G7		UPI00000715C8	NM_018919.2			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF107,hmmpanther:PTHR24028											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs770848918	.												A	2	1	12	141376126	141376126	C	A	1	0	0	0	0	0	0	0	1	11645	639	23	1		1	PCDHGA6	5	141376126	Silent	SNP	C	C3L-00144_TP	4845	141376126	40162133	597	4876											
PCDHGB5	0	.	GRCh38	chr5	141399192	141399192	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgaaatgattctggaaaaCgcggtgcctggaacactaat	13	10	10	8	2	1	2	0	2	1	0	1	4	1	4	1	3	3	0	1	3	5	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1065C>T	p.=	p.N355N	ENST00000617380	1/4	165	106	59	171	171	0	strelka-varscan-mutect	PCDHGB5,synonymous_variant,p.=,ENST00000617380,NM_018925.2;PCDHGB5,synonymous_variant,p.=,ENST00000621169,NM_032099.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGA8,downstream_gene_variant,,ENST00000610569,NM_014004.2;PCDHGA9,upstream_gene_variant,,ENST00000573521,NM_018921.2;PCDHGA9,upstream_gene_variant,,ENST00000616887,NM_032089.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000617380	Transcript	synonymous_variant	1065/4578	1065/2772	355/923	N	aaC/aaT		1		1	PCDHGB5	HGNC	HGNC:8712	protein_coding	YES	CCDS75339.1	ENSP00000478258	Q9Y5G0		UPI000007279C	NM_018925.2			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF126,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	141399192	141399192	C	T	1	0	0	0	0	0	0	0	1	11653	535	19	1		1	PCDHGB5	5	141399192	Silent	SNP	C	C3L-00144_TP	23066	141399192	40139067	598	4877											
DIAPH1	0	.	GRCh38	chr5	141578324	141578324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgcactctcatatcttcaTtttcaatctctcgaaggtcc	8	16	5	12	1	5	0	3	0	3	0	9	1	6	0	1	1	1	2	1	1	3	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1064A>G	p.Asn355Ser	p.N355S	ENST00000389054	11/28	407	380	27	364	364	0	strelka-varscan-mutect	DIAPH1,missense_variant,p.Asn355Ser,ENST00000389054,NM_005219.4;DIAPH1,missense_variant,p.Asn311Ser,ENST00000253811,;DIAPH1,missense_variant,p.Asn355Ser,ENST00000398557,;DIAPH1,missense_variant,p.Asn346Ser,ENST00000389057,;DIAPH1,missense_variant,p.Asn346Ser,ENST00000518047,NM_001079812.2;DIAPH1,3_prime_UTR_variant,,ENST00000523100,;DIAPH1,non_coding_transcript_exon_variant,,ENST00000472516,;	C	ENST00000389054	Transcript	missense_variant	1205/5795	1064/3819	355/1272	N/S	aAt/aGt		1		-1	DIAPH1	HGNC	HGNC:2876	protein_coding	YES	CCDS43374.1	ENSP00000373706	O60610		UPI0000EA87E6	NM_005219.4	deleterious(0.03)		11/28		Pfam_domain:PF06367,PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF17,SMART_domains:SM01139,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	12	141578324	141578324	T	C	1	0	0	0	0	1	0	0	0	4322	1493	52	5		5	DIAPH1	5	141578324	Missense_Mutation	SNP	T	C3L-00144_TP	179132	141578324	39959935	599	4878											
AFAP1L1	0	.	GRCh38	chr5	149307595	149307595	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcagctgacggtcatCagggaggaccagctcctggt	9	6	14	12	1	2	1	2	1	0	0	3	3	3	3	3	4	3	3	3	4	1	0	rs144791179		C3L-00144_TP	C3L-00144_NB	C	C																c.729C>A	p.=	p.I243I	ENST00000296721	7/19	194	134	60	160	159	1	strelka-varscan-mutect	AFAP1L1,synonymous_variant,p.=,ENST00000296721,NM_152406.2;AFAP1L1,synonymous_variant,p.=,ENST00000515000,NM_001146337.1;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000522492,;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000455574,;AFAP1L1,downstream_gene_variant,,ENST00000508444,;	A	ENST00000296721	Transcript	synonymous_variant	827/4177	729/2307	243/768	I	atC/atA	rs144791179	1		1	AFAP1L1	HGNC	HGNC:26714	protein_coding	YES	CCDS34274.1	ENSP00000296721	Q8TED9		UPI00001C1E2F	NM_152406.2			7/19		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF1,SMART_domains:SM00233,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		rs144791179	.												A	2	1	12	149307595	149307595	C	A	1	0	0	0	0	0	0	0	1	431	816	29	2		2	AFAP1L1	5	149307595	Silent	SNP	C	C3L-00144_TP	7729271	149307595	32230664	600	4879											
SLC36A2	0	.	GRCh38	chr5	151322051	151322051	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttctactcacatgtcAggcagaccatgacgaggcga	10	9	9	13	2	3	2	2	1	1	1	4	4	4	2	2	2	1	1	2	2	1	2	rs774837574		C3L-00144_TP	C3L-00144_NB	A	A																c.1175T>A	p.Leu392Gln	p.L392Q	ENST00000335244	9/10	261	168	93	264	264	0	strelka-varscan-mutect	SLC36A2,missense_variant,p.Leu392Gln,ENST00000335244,NM_181776.2;SLC36A2,missense_variant,p.Leu392Gln,ENST00000521967,;SLC36A2,downstream_gene_variant,,ENST00000523044,;SLC36A2,3_prime_UTR_variant,,ENST00000518617,;SLC36A2,3_prime_UTR_variant,,ENST00000518280,;CTC-224D3.1,downstream_gene_variant,,ENST00000604421,;	T	ENST00000335244	Transcript	missense_variant	1305/3421	1175/1452	392/483	L/Q	cTg/cAg	rs774837574	1		-1	SLC36A2	HGNC	HGNC:18762	protein_coding	YES	CCDS4315.1	ENSP00000334223	Q495M3		UPI000020D008	NM_181776.2	deleterious(0)		9/10		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF185,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs774837574	.												T	3	4	12	151322051	151322051	A	T	1	0	0	0	0	1	0	0	0	14872	202	7	4		4	SLC36A2	5	151322051	Missense_Mutation	SNP	A	C3L-00144_TP	2014456	151322051	30216208	601	4880											
SAP30L	0	.	GRCh38	chr5	154446720	154446720	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggacggcgagcgctgcgTccggcccgcgggcaacgcct	5	3	17	16	9	0	0	0	0	0	0	1	3	1	1	3	4	3	2	3	4	1	0	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.116T>A	p.Val39Asp	p.V39D	ENST00000297109	1/4	153	104	49	132	132	0	strelka-varscan-mutect	SAP30L,missense_variant,p.Val39Asp,ENST00000297109,NM_024632.5;SAP30L,missense_variant,p.Val39Asp,ENST00000440364,NM_001131062.1;SAP30L,missense_variant,p.Val39Asp,ENST00000426761,NM_001131063.1;SAP30L-AS1,upstream_gene_variant,,ENST00000524264,;SAP30L-AS1,upstream_gene_variant,,ENST00000522312,;SAP30L-AS1,upstream_gene_variant,,ENST00000501280,;SAP30L-AS1,upstream_gene_variant,,ENST00000519727,;SAP30L,non_coding_transcript_exon_variant,,ENST00000523198,;SAP30L,non_coding_transcript_exon_variant,,ENST00000520159,;SAP30L,non_coding_transcript_exon_variant,,ENST00000519683,;	A	ENST00000297109	Transcript	missense_variant	764/6226	116/552	39/183	V/D	gTc/gAc		1		1	SAP30L	HGNC	HGNC:25663	protein_coding	YES	CCDS4326.1	ENSP00000297109	Q9HAJ7		UPI000007275D	NM_024632.5	tolerated(0.62)		1/4		hmmpanther:PTHR13286,hmmpanther:PTHR13286:SF5,Pfam_domain:PF13866																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	154446720	154446720	T	A	1	0	0	0	0	1	0	0	0	14096	1667	58	4		4	SAP30L	5	154446720	Missense_Mutation	SNP	T	C3L-00144_TP	3124669	154446720	27091539	602	4881											
SOX30	0	.	GRCh38	chr5	157638268	157638268	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtccgggtaggaagtaaggGtgatgaaaagagaatcttgg	13	8	17	3	1	1	3	0	2	1	1	2	5	2	4	1	5	0	2	1	5	6	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1842C>T	p.=	p.H614H	ENST00000265007	4/5	24	14	10	26	26	0	strelka-varscan-mutect	SOX30,synonymous_variant,p.=,ENST00000265007,NM_178424.1;SOX30,synonymous_variant,p.=,ENST00000519442,NM_001308165.1;SOX30,intron_variant,,ENST00000311371,NM_007017.2;	A	ENST00000265007	Transcript	synonymous_variant	2184/3265	1842/2262	614/753	H	caC/caT		1		-1	SOX30	HGNC	HGNC:30635	protein_coding	YES	CCDS4339.1	ENSP00000265007	O94993		UPI00001362BA	NM_178424.1			4/5		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF10																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	157638268	157638268	G	A	1	0	0	0	0	0	0	0	1	15278	1252	44	3		3	SOX30	5	157638268	Silent	SNP	G	C3L-00144_TP	3191548	157638268	23899991	603	4882											
GABRA1	0	.	GRCh38	chr5	161854234	161854234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattttggacagactcctaGatggttatgacaatcgcctg	10	12	11	8	1	0	3	0	1	0	2	2	5	1	5	2	3	0	1	2	3	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.151G>T	p.Asp51Tyr	p.D51Y	ENST00000393943	3/10	319	233	86	252	252	0	strelka-varscan-mutect	GABRA1,missense_variant,p.Asp51Tyr,ENST00000393943,NM_001127644.1,NM_001127648.1;GABRA1,missense_variant,p.Asp51Tyr,ENST00000428797,NM_001127643.1;GABRA1,missense_variant,p.Asp66Tyr,ENST00000638159,;GABRA1,missense_variant,p.Asp51Tyr,ENST00000437025,NM_001127645.1;GABRA1,missense_variant,p.Asp51Tyr,ENST00000638112,;GABRA1,missense_variant,p.Asp51Tyr,ENST00000636573,;GABRA1,missense_variant,p.Asp51Tyr,ENST00000023897,NM_000806.5;GABRA1,missense_variant,p.Asp51Tyr,ENST00000637827,;GABRA1,missense_variant,p.Asp51Tyr,ENST00000635880,;GABRA1,missense_variant,p.Asp51Tyr,ENST00000634335,;GABRA1,missense_variant,p.Asp72Tyr,ENST00000522651,;GABRA1,missense_variant,p.Asp51Tyr,ENST00000519621,;GABRA1,missense_variant,p.Asp51Tyr,ENST00000521339,;GABRA1,downstream_gene_variant,,ENST00000635096,;GABRA1,downstream_gene_variant,,ENST00000637620,;GABRA1,stop_lost,p.Ter71TyrextTer7,ENST00000636340,;GABRA1,missense_variant,p.Asp51Tyr,ENST00000637044,;	T	ENST00000393943	Transcript	missense_variant	934/4686	151/1371	51/456	D/Y	Gat/Tat		1		1	GABRA1	HGNC	HGNC:4075	protein_coding	YES	CCDS4357.1	ENSP00000377517	P14867		UPI000012AF95	NM_001127644.1,NM_001127648.1	deleterious(0)		3/10		Superfamily_domains:0038932,Pfam_domain:PF02931,Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF514,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	161854234	161854234	G	T	1	0	0	0	0	1	0	0	0	6031	942	33	2		2	GABRA1	5	161854234	Missense_Mutation	SNP	G	C3L-00144_TP	4215966	161854234	19684025	604	4883											
TENM2	0	.	GRCh38	chr5	167284911	167284911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagtgtcgctacacaagctCctctctggacagtgaggact	10	9	11	11	1	1	2	0	1	1	1	4	4	2	4	1	2	2	2	1	2	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.74C>A	p.Ser25Tyr	p.S25Y	ENST00000518659	1/29	396	287	109	401	399	2	strelka-varscan-mutect	TENM2,missense_variant,p.Ser25Tyr,ENST00000518659,NM_001122679.1;CTB-180C19.1,downstream_gene_variant,,ENST00000521697,;	A	ENST00000518659	Transcript	missense_variant	113/8550	74/8325	25/2774	S/Y	tCc/tAc		1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1	deleterious_low_confidence(0)		1/29		PROSITE_profiles:PS51361,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,Pfam_domain:PF06484																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	12	167284911	167284911	C	A	1	0	0	0	0	1	0	0	0	16172	855	30	2		2	TENM2	5	167284911	Missense_Mutation	SNP	C	C3L-00144_TP	5430677	167284911	14253348	605	4884											
SH3PXD2B	0	.	GRCh38	chr5	172382083	172382083	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtctcaaagaactgcagCacctcatcacactgagagat	13	9	7	12	0	3	3	3	1	1	2	4	4	3	3	1	0	3	2	1	0	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.354G>T	p.=	p.V118V	ENST00000311601	5/13	105	79	26	101	101	0	strelka-varscan-mutect	SH3PXD2B,synonymous_variant,p.=,ENST00000311601,NM_001017995.2;SH3PXD2B,synonymous_variant,p.=,ENST00000636523,;SH3PXD2B,synonymous_variant,p.=,ENST00000519643,NM_001308175.1;	A	ENST00000311601	Transcript	synonymous_variant	525/7777	354/2736	118/911	V	gtG/gtT		1		-1	SH3PXD2B	HGNC	HGNC:29242	protein_coding	YES	CCDS34291.1	ENSP00000309714	A1X283		UPI000020C12E	NM_001017995.2			5/13		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR15706,hmmpanther:PTHR15706:SF8,SMART_domains:SM00312,Superfamily_domains:SSF64268																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	172382083	172382083	C	A	1	0	0	0	0	0	0	0	1	14516	697	25	2		2	SH3PXD2B	5	172382083	Silent	SNP	C	C3L-00144_TP	5097172	172382083	9156176	606	4885											
MSX2	0	.	GRCh38	chr5	174729219	174729219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaatcggaagccgcgcaCgccctttaccacatcccagc	10	5	8	18	4	0	0	0	0	0	0	2	2	1	1	5	1	3	1	5	1	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.440C>A	p.Thr147Lys	p.T147K	ENST00000239243	2/2	220	155	65	152	152	0	strelka-varscan-mutect	MSX2,missense_variant,p.Thr147Lys,ENST00000239243,NM_002449.4;MSX2,3_prime_UTR_variant,,ENST00000507785,;	A	ENST00000239243	Transcript	missense_variant	567/2241	440/804	147/267	T/K	aCg/aAg		1		1	MSX2	HGNC	HGNC:7392	protein_coding	YES	CCDS4392.1	ENSP00000239243	P35548		UPI000013CA79	NM_002449.4	deleterious(0)		2/2		PROSITE_profiles:PS50071,hmmpanther:PTHR24338:SF10,hmmpanther:PTHR24338,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		rs1484486574	.												A	3	1	12	174729219	174729219	C	A	1	0	0	0	0	1	0	0	0	9880	536	19	1		1	MSX2	5	174729219	Missense_Mutation	SNP	C	C3L-00144_TP	2347136	174729219	6809040	607	4886											
ARL10	0	.	GRCh38	chr5	176368859	176368859	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagtttgtgagcgaggtGgatgtgctggtgtttgtggt	6	14	19	2	1	0	1	0	1	0	0	0	4	0	3	0	5	2	3	0	5	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.438G>T	p.=	p.V146V	ENST00000310389	3/4	154	135	19	108	108	0	strelka-varscan-mutect	ARL10,synonymous_variant,p.=,ENST00000310389,NM_173664.4;ARL10,synonymous_variant,p.=,ENST00000514533,;ARL10,upstream_gene_variant,,ENST00000503175,;MIR1271,downstream_gene_variant,,ENST00000408537,;ARL10,non_coding_transcript_exon_variant,,ENST00000507151,;	T	ENST00000310389	Transcript	synonymous_variant	534/10845	438/735	146/244	V	gtG/gtT		1		1	ARL10	HGNC	HGNC:22042	protein_coding	YES	CCDS4400.1	ENSP00000308496	Q8N8L6		UPI000006FEF9	NM_173664.4			3/4		Low_complexity_(Seg):seg,PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF158,Gene3D:3.40.50.300,Pfam_domain:PF00025,SMART_domains:SM00178,SMART_domains:SM00177,Superfamily_domains:SSF52540,Prints_domain:PR00328																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	12	176368859	176368859	G	T	1	0	0	0	0	0	0	0	1	1063	1335	47	2		2	ARL10	5	176368859	Silent	SNP	G	C3L-00144_TP	1639640	176368859	5169400	608	4887											
NSD1	0	.	GRCh38	chr5	177135809	177135809	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctcctcagactgaaacaCagaaaaataagcaaagaaat	21	6	6	8	0	1	4	1	1	0	3	2	4	2	4	1	0	3	2	1	0	7	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.706C>T	p.Gln236Ter	p.Q236*	ENST00000439151	2/23	67	60	7	56	56	0	strelka-varscan-mutect	NSD1,stop_gained,p.Gln236Ter,ENST00000439151,NM_022455.4;NSD1,intron_variant,,ENST00000354179,NM_172349.2;NSD1,intron_variant,,ENST00000347982,;NSD1,intron_variant,,ENST00000511258,;NSD1,intron_variant,,ENST00000508896,;NSD1,intron_variant,,ENST00000510954,;NSD1,non_coding_transcript_exon_variant,,ENST00000602285,;NSD1,downstream_gene_variant,,ENST00000512992,;	T	ENST00000439151	Transcript	stop_gained	751/12892	706/8091	236/2696	Q/*	Cag/Tag		1		1	NSD1	HGNC	HGNC:14234	protein_coding	YES	CCDS4412.1	ENSP00000395929	Q96L73		UPI000006F9C6	NM_022455.4			2/23																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	177135809	177135809	C	T	1	0	0	0	0	0	1	0	0	10728	479	17	3		3	NSD1	5	177135809	Nonsense_Mutation	SNP	C	C3L-00144_TP	766950	177135809	4402450	609	4888											
DBN1	0	.	GRCh38	chr5	177458064	177458064	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtccctgccgcacctgggtCccctccttctgggtggtctc	2	11	11	17	1	2	0	0	0	2	0	6	0	5	0	6	3	1	1	6	3	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1776G>T	p.=	p.G592G	ENST00000292385	13/15	401	291	110	342	341	1	strelka-varscan-mutect	DBN1,synonymous_variant,p.=,ENST00000292385,NM_080881.2;DBN1,synonymous_variant,p.=,ENST00000309007,NM_004395.3;DBN1,synonymous_variant,p.=,ENST00000393565,;DBN1,synonymous_variant,p.=,ENST00000512501,;PRR7,downstream_gene_variant,,ENST00000323249,NM_030567.4;PRR7,downstream_gene_variant,,ENST00000502922,NM_001174101.1;PRR7,downstream_gene_variant,,ENST00000510492,NM_001174102.1;DBN1,downstream_gene_variant,,ENST00000477391,;PRR7,downstream_gene_variant,,ENST00000507881,;DBN1,non_coding_transcript_exon_variant,,ENST00000472831,;DBN1,downstream_gene_variant,,ENST00000467054,;	A	ENST00000292385	Transcript	synonymous_variant	2386/3072	1776/1956	592/651	G	ggG/ggT		1		-1	DBN1	HGNC	HGNC:2695	protein_coding	YES	CCDS4421.1	ENSP00000292385	Q16643		UPI0000457395	NM_080881.2			13/15		hmmpanther:PTHR10829,hmmpanther:PTHR10829:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	177458064	177458064	C	A	1	0	0	0	0	0	0	0	1	4052	842	30	2		2	DBN1	5	177458064	Silent	SNP	C	C3L-00144_TP	322255	177458064	4080195	610	4889											
N4BP3	0	.	GRCh38	chr5	178120505	178120505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccaccttaaccacctcgggGgctccctggaccgggcctct	5	7	11	18	2	1	0	0	0	1	0	3	1	2	1	7	4	1	1	7	4	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.658G>A	p.Gly220Ser	p.G220S	ENST00000274605	3/5	355	264	91	274	274	0	strelka-varscan-mutect	N4BP3,missense_variant,p.Gly220Ser,ENST00000274605,NM_015111.1;	A	ENST00000274605	Transcript	missense_variant	1017/6080	658/1635	220/544	G/S	Ggc/Agc		1		1	N4BP3	HGNC	HGNC:29852	protein_coding	YES	CCDS34307.1	ENSP00000274605	O15049		UPI00001C1E2A	NM_015111.1	tolerated(0.17)		3/5		Low_complexity_(Seg):seg,hmmpanther:PTHR32274																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	178120505	178120505	G	A	1	0	0	0	0	1	0	0	0	10117	1232	43	3		3	N4BP3	5	178120505	Missense_Mutation	SNP	G	C3L-00144_TP	662441	178120505	3417754	611	4890											
HNRNPAB	0	.	GRCh38	chr5	178210591	178210591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggcaagagccagcgacgtGgtggccatcagaataactac	13	5	12	11	3	1	2	1	0	0	2	1	3	1	2	2	3	4	1	2	3	4	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.967G>A	p.Gly323Ser	p.G323S	ENST00000358344	8/8	325	298	27	230	230	0	strelka-varscan-mutect	HNRNPAB,missense_variant,p.Gly323Ser,ENST00000358344,NM_031266.2;HNRNPAB,missense_variant,p.Gly323Ser,ENST00000504898,;HNRNPAB,missense_variant,p.Gly318Ser,ENST00000506339,;HNRNPAB,missense_variant,p.Gly276Ser,ENST00000506259,;HNRNPAB,missense_variant,p.Gly276Ser,ENST00000355836,NM_004499.3;HNRNPAB,missense_variant,p.Gly271Ser,ENST00000515193,;HNRNPAB,missense_variant,p.Gly274Ser,ENST00000514633,;PHYKPL,intron_variant,,ENST00000308158,NM_153373.3,NM_001278346.1;PHYKPL,intron_variant,,ENST00000481811,;PHYKPL,intron_variant,,ENST00000489262,;PHYKPL,intron_variant,,ENST00000494126,;PHYKPL,intron_variant,,ENST00000481436,;PHYKPL,intron_variant,,ENST00000493197,;PHYKPL,intron_variant,,ENST00000474052,;PHYKPL,intron_variant,,ENST00000393488,;PHYKPL,intron_variant,,ENST00000510991,;PHYKPL,downstream_gene_variant,,ENST00000476487,;PHYKPL,downstream_gene_variant,,ENST00000506045,;HNRNPAB,downstream_gene_variant,,ENST00000504796,;	A	ENST00000358344	Transcript	missense_variant	1224/1796	967/999	323/332	G/S	Ggt/Agt		1		1	HNRNPAB	HGNC	HGNC:5034	protein_coding	YES	CCDS34309.1	ENSP00000351108	Q99729		UPI0000070026	NM_031266.2	deleterious(0)		8/8		hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF461																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	178210591	178210591	G	A	1	0	0	0	0	1	0	0	0	7152	1348	47	3		3	HNRNPAB	5	178210591	Missense_Mutation	SNP	G	C3L-00144_TP	90086	178210591	3327668	612	4891											
MGAT4B	0	.	GRCh38	chr5	179798211	179798211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccgtctggatcgagaggCgcagtgcttccagagggccg	7	7	16	11	4	1	2	0	0	1	2	4	4	3	3	3	3	1	2	3	3	0	1	rs374415178		C3L-00144_TP	C3L-00144_NB	C	C																c.1622G>T	p.Arg541Leu	p.R541L	ENST00000337755	13/14	95	84	11	83	83	0	strelka-varscan-mutect	MGAT4B,missense_variant,p.Arg541Leu,ENST00000337755,NM_054013.3;MGAT4B,missense_variant,p.Arg526Leu,ENST00000292591,NM_014275.4;MGAT4B,missense_variant,p.Arg351Leu,ENST00000518778,;MGAT4B,missense_variant,p.Arg218Leu,ENST00000520969,;MGAT4B,missense_variant,p.Arg307Leu,ENST00000520875,;MGAT4B,synonymous_variant,p.=,ENST00000519836,;MGAT4B,synonymous_variant,p.=,ENST00000518980,;MGAT4B,downstream_gene_variant,,ENST00000523108,;MGAT4B,downstream_gene_variant,,ENST00000518867,;LTC4S,downstream_gene_variant,,ENST00000292596,NM_145867.1;LTC4S,downstream_gene_variant,,ENST00000401985,;MIR1229,downstream_gene_variant,,ENST00000408467,;MGAT4B,non_coding_transcript_exon_variant,,ENST00000523382,;MGAT4B,non_coding_transcript_exon_variant,,ENST00000522293,;MAML1,downstream_gene_variant,,ENST00000503050,;MGAT4B,downstream_gene_variant,,ENST00000521305,;MGAT4B,downstream_gene_variant,,ENST00000520019,;MGAT4B,downstream_gene_variant,,ENST00000520134,;MGAT4B,downstream_gene_variant,,ENST00000519965,;MGAT4B,downstream_gene_variant,,ENST00000519616,;MGAT4B,non_coding_transcript_exon_variant,,ENST00000522451,;MGAT4B,downstream_gene_variant,,ENST00000518168,;LTC4S,downstream_gene_variant,,ENST00000465572,;MGAT4B,downstream_gene_variant,,ENST00000520918,;MGAT4B,downstream_gene_variant,,ENST00000520822,;MGAT4B,downstream_gene_variant,,ENST00000521855,;LTC4S,downstream_gene_variant,,ENST00000505170,;LTC4S,downstream_gene_variant,,ENST00000466071,;MGAT4B,downstream_gene_variant,,ENST00000523329,;MGAT4B,downstream_gene_variant,,ENST00000518702,;LTC4S,downstream_gene_variant,,ENST00000509898,;LTC4S,downstream_gene_variant,,ENST00000486713,;LTC4S,downstream_gene_variant,,ENST00000510544,;	A	ENST00000337755	Transcript	missense_variant	2509/3027	1622/1692	541/563	R/L	cGc/cTc	rs374415178	1		-1	MGAT4B	HGNC	HGNC:7048	protein_coding	YES	CCDS4449.1	ENSP00000338487	Q9UQ53		UPI000015F50B	NM_054013.3	deleterious(0)		13/14		hmmpanther:PTHR12062,hmmpanther:PTHR12062:SF1																	MODERATE		SNV	2			1										PASS		rs374415178	.												A	3	1	12	179798211	179798211	C	A	1	0	0	0	0	1	0	0	0	9506	768	27	1		1	MGAT4B	5	179798211	Missense_Mutation	SNP	C	C3L-00144_TP	1587620	179798211	1740048	613	4892											
RREB1	0	.	GRCh38	chr6	7230614	7230614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccgcagaggcgccggccGctgaggcgtcggggcgcggg	3	2	21	15	8	0	2	0	1	0	1	1	2	0	2	4	6	0	2	4	6	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2515G>T	p.Ala839Ser	p.A839S	ENST00000379938	10/13	113	107	6	97	97	0	strelka-varscan-mutect	RREB1,missense_variant,p.Ala839Ser,ENST00000379938,NM_001003699.3;RREB1,missense_variant,p.Ala839Ser,ENST00000349384,NM_001003698.3;RREB1,missense_variant,p.Ala839Ser,ENST00000379933,NM_001168344.1;RREB1,missense_variant,p.Ala839Ser,ENST00000334984,NM_001003700.1;RREB1,upstream_gene_variant,,ENST00000611109,;RREB1,downstream_gene_variant,,ENST00000483150,;	T	ENST00000379938	Transcript	missense_variant	3052/8778	2515/5229	839/1742	A/S	Gct/Tct		1		1	RREB1	HGNC	HGNC:10449	protein_coding	YES	CCDS34335.1	ENSP00000369270	Q92766		UPI000020E496	NM_001003699.3	tolerated(0.54)		10/13		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF42,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1036649369	.												T	3	4	12	7230614	7230614	G	T	1	0	0	0	0	1	0	0	0	13933	1087	38	1		1	RREB1	6	7230614	Missense_Mutation	SNP	G	C3L-00144_TP		7230614	163575365	614	4893											
DSP	0	.	GRCh38	chr6	7576351	7576351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattatcgtgataactatcaGgctttctgcaagtggctcta	11	14	8	8	1	3	1	1	1	2	0	4	1	3	1	0	2	2	3	0	2	6	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2688G>T	p.Gln896His	p.Q896H	ENST00000379802	19/24	336	215	121	235	235	0	strelka-varscan-mutect	DSP,missense_variant,p.Gln896His,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Gln896His,ENST00000418664,NM_001008844.1;	T	ENST00000379802	Transcript	missense_variant	3029/9796	2688/8616	896/2871	Q/H	caG/caT		1		1	DSP	HGNC	HGNC:3052	protein_coding	YES	CCDS4501.1	ENSP00000369129	P15924		UPI000013C67F	NM_004415.2	tolerated(0.1)		19/24		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF234,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		rs1195740147	.												T	3	4	12	7576351	7576351	G	T	1	0	0	0	0	1	0	0	0	4602	991	35	2		2	DSP	6	7576351	Missense_Mutation	SNP	G	C3L-00144_TP	345737	7576351	163229628	615	4894											
DSP	0	.	GRCh38	chr6	7585079	7585079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaatttaaccataaggaGcagctctttttcagacaccc	13	10	7	11	0	2	1	1	0	1	1	2	3	2	3	2	2	3	2	2	2	3	5	rs199597935		C3L-00144_TP	C3L-00144_NB	G	G																c.7817G>T	p.Ser2606Ile	p.S2606I	ENST00000379802	24/24	422	267	155	302	302	0	strelka-varscan-mutect	DSP,missense_variant,p.Ser2606Ile,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Ser2007Ile,ENST00000418664,NM_001008844.1;	T	ENST00000379802	Transcript	missense_variant	8158/9796	7817/8616	2606/2871	S/I	aGc/aTc	rs199597935	1		1	DSP	HGNC	HGNC:3052	protein_coding	YES	CCDS4501.1	ENSP00000369129	P15924		UPI000013C67F	NM_004415.2	deleterious(0.03)		24/24		Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF234										uncertain_significance							MODERATE	1	SNV	1		1	1										PASS		rs199597935	.												T	3	4	12	7585079	7585079	G	T	1	0	0	0	0	1	0	0	0	4602	971	34	2		2	DSP	6	7585079	Missense_Mutation	SNP	G	C3L-00144_TP	8728	7585079	163220900	616	4895											
DSP	0	.	GRCh38	chr6	7585816	7585816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagaggaagctttgacGccacagggaattcttcctac	10	8	11	12	2	1	2	0	1	1	1	2	5	2	4	3	3	2	1	3	3	3	4			C3L-00144_TP	C3L-00144_NB	G	G																c.8554G>T	p.Ala2852Ser	p.A2852S	ENST00000379802	24/24	141	86	55	81	81	0	strelka-varscan-mutect	DSP,missense_variant,p.Ala2852Ser,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Ala2253Ser,ENST00000418664,NM_001008844.1;SNRNP48,upstream_gene_variant,,ENST00000342415,NM_152551.3;SNRNP48,upstream_gene_variant,,ENST00000634363,;	T	ENST00000379802	Transcript	missense_variant	8895/9796	8554/8616	2852/2871	A/S	Gcc/Tcc	COSM362806	1		1	DSP	HGNC	HGNC:3052	protein_coding	YES	CCDS4501.1	ENSP00000369129	P15924		UPI000013C67F	NM_004415.2	deleterious_low_confidence(0.02)		24/24		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF234											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	12	7585816	7585816	G	T	1	0	0	0	0	1	0	0	0	4602	1087	38	1		1	DSP	6	7585816	Missense_Mutation	SNP	G	C3L-00144_TP	737	7585816	163220163	617	4896											
NEDD9	0	.	GRCh38	chr6	11213684	11213684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcgaaaggccagttcctcgGcacactctgggacattgtca	9	9	11	12	2	2	0	1	0	1	0	4	2	3	1	2	3	1	2	2	3	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.56C>T	p.Ala19Val	p.A19V	ENST00000379446	2/7	145	135	10	106	106	0	strelka-varscan-mutect	NEDD9,missense_variant,p.Ala19Val,ENST00000379446,NM_006403.3;NEDD9,missense_variant,p.Ala19Val,ENST00000379433,NM_182966.3;NEDD9,missense_variant,p.Ala19Val,ENST00000504387,NM_001142393.1;NEDD9,missense_variant,p.Ala13Val,ENST00000513989,;NEDD9,missense_variant,p.Ala19Val,ENST00000397378,;NEDD9,intron_variant,,ENST00000620854,NM_001271033.1;NEDD9,downstream_gene_variant,,ENST00000508546,;RP3-510L9.1,intron_variant,,ENST00000500636,;NEDD9,3_prime_UTR_variant,,ENST00000448183,;	A	ENST00000379446	Transcript	missense_variant	223/4536	56/2505	19/834	A/V	gCc/gTc		1		-1	NEDD9	HGNC	HGNC:7733	protein_coding	YES	CCDS4520.1	ENSP00000368759	Q14511		UPI000000D981	NM_006403.3	deleterious(0)		2/7		Gene3D:2.30.30.40,Pfam_domain:PF14604,PROSITE_profiles:PS50002,hmmpanther:PTHR10654,hmmpanther:PTHR10654:SF20,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	11213684	11213684	G	A	1	0	0	0	0	1	0	0	0	10341	1203	42	3		3	NEDD9	6	11213684	Missense_Mutation	SNP	G	C3L-00144_TP	3627868	11213684	159592295	618	4897											
MBOAT1	0	.	GRCh38	chr6	20152757	20152757	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagagcaacaagctggcataCcacaaaattcacctgtggca	15	6	8	12	0	1	1	1	0	0	1	1	1	1	1	2	2	4	4	2	2	5	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.112G>T	p.Val38Leu	p.V38L	ENST00000324607	2/13	173	154	19	124	124	0	strelka-varscan-mutect	MBOAT1,missense_variant,p.Val38Leu,ENST00000324607,NM_001080480.2;	A	ENST00000324607	Transcript	missense_variant	277/1794	112/1488	38/495	V/L	Gta/Tta		1		-1	MBOAT1	HGNC	HGNC:21579	protein_coding	YES	CCDS34346.1	ENSP00000324944	Q6ZNC8		UPI000020D5D0	NM_001080480.2	tolerated(0.19)		2/13		hmmpanther:PTHR13906,hmmpanther:PTHR13906:SF6,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	20152757	20152757	C	A	1	0	0	0	0	1	0	0	0	9288	507	18	2		2	MBOAT1	6	20152757	Missense_Mutation	SNP	C	C3L-00144_TP	8939073	20152757	150653222	619	4898											
PRL	0	.	GRCh38	chr6	22292630	22292630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaatgaacccccggccatGggtataccgtttatcctgga	9	10	11	11	2	0	1	0	1	0	0	1	2	1	2	5	4	2	3	5	4	5	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.220C>A	p.His74Asn	p.H74N	ENST00000306482	3/5	219	198	21	155	154	1	strelka-varscan-mutect	PRL,missense_variant,p.His75Asn,ENST00000617911,;PRL,missense_variant,p.His74Asn,ENST00000306482,NM_001163558.2,NM_000948.5;PRL,missense_variant,p.His43Asn,ENST00000615510,;CASC15,intron_variant,,ENST00000561912,;	T	ENST00000306482	Transcript	missense_variant	739/1354	220/684	74/227	H/N	Cat/Aat		1		-1	PRL	HGNC	HGNC:9445	protein_coding	YES	CCDS4548.1	ENSP00000302150	P01236	Q5THQ0	UPI0000001C13	NM_001163558.2,NM_000948.5	tolerated(0.06)		3/5		hmmpanther:PTHR11417,hmmpanther:PTHR11417:SF5,Gene3D:1.20.1250.10,Pfam_domain:PF00103,Superfamily_domains:SSF47266																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	22292630	22292630	G	T	1	0	0	0	0	1	0	0	0	12660	1348	47	2		2	PRL	6	22292630	Missense_Mutation	SNP	G	C3L-00144_TP	2139873	22292630	148513349	620	4899											
NRSN1	0	.	GRCh38	chr6	24141095	24141095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccaggttgctctgctgagCctggaggaggacccttccaa	7	8	12	14	0	1	1	0	1	1	0	2	4	2	4	5	4	3	3	5	4	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.361C>G	p.Pro121Ala	p.P121A	ENST00000378475	2/2	41	26	15	23	23	0	strelka-varscan-mutect	NRSN1,missense_variant,p.Pro121Ala,ENST00000378475,;NRSN1,intron_variant,,ENST00000378478,NM_080723.4;NRSN1,intron_variant,,ENST00000378491,;NRSN1,intron_variant,,ENST00000378477,;NRSN1,intron_variant,,ENST00000468195,;	G	ENST00000378475	Transcript	missense_variant	372/800	361/441	121/146	P/A	Cct/Gct		1		1	NRSN1	HGNC	HGNC:17881	protein_coding			ENSP00000367736		Q5VTS2	UPI0000458AA7				2/2																			MODERATE		SNV	3			1										PASS		.	.												G	3	3	12	24141095	24141095	C	G	1	0	0	0	0	1	0	0	0	10721	739	26	4		4	NRSN1	6	24141095	Missense_Mutation	SNP	C	C3L-00144_TP	1848465	24141095	146664884	621	4900											
KIAA0319	0	.	GRCh38	chr6	24595965	24595965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatggagtagtcggcaaggGaagcaacacacttctctcag	13	7	12	9	1	2	1	1	0	1	1	4	3	2	3	0	3	2	3	0	3	4	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.709C>A	p.Pro237Thr	p.P237T	ENST00000378214	3/21	179	115	64	155	155	0	strelka-varscan-mutect	KIAA0319,missense_variant,p.Pro228Thr,ENST00000535378,NM_001168374.1;KIAA0319,missense_variant,p.Pro237Thr,ENST00000378214,NM_001168375.1,NM_014809.3;KIAA0319,missense_variant,p.Pro237Thr,ENST00000537886,NM_001168377.1;KIAA0319,missense_variant,p.Pro192Thr,ENST00000430948,NM_001168376.1;KIAA0319,missense_variant,p.Pro237Thr,ENST00000543707,;KRT8P43,upstream_gene_variant,,ENST00000406052,;	T	ENST00000378214	Transcript	missense_variant	1234/6802	709/3219	237/1072	P/T	Ccc/Acc		1		-1	KIAA0319	HGNC	HGNC:21580	protein_coding	YES	CCDS34348.1	ENSP00000367459	Q5VV43		UPI000020D61A	NM_001168375.1,NM_014809.3	tolerated(0.11)		3/21		hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF194																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	24595965	24595965	G	T	1	0	0	0	0	1	0	0	0	8080	1174	41	2		2	KIAA0319	6	24595965	Missense_Mutation	SNP	G	C3L-00144_TP	454870	24595965	146210014	622	4901											
SLC17A3	0	.	GRCh38	chr6	25861670	25861670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcgttcttgtggagggccCcacttttcccaaattgcaaa	8	13	8	12	1	1	0	0	0	1	0	3	1	2	1	3	2	1	2	3	2	2	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.579G>T	p.Trp193Cys	p.W193C	ENST00000397060	5/13	532	482	50	371	371	0	strelka-varscan-mutect	SLC17A3,missense_variant,p.Trp193Cys,ENST00000397060,NM_001098486.1;SLC17A3,missense_variant,p.Trp115Cys,ENST00000360657,;SLC17A3,missense_variant,p.Trp115Cys,ENST00000361703,NM_006632.3;SLC17A3,non_coding_transcript_exon_variant,,ENST00000509714,;SLC17A3,non_coding_transcript_exon_variant,,ENST00000503922,;SLC17A3,non_coding_transcript_exon_variant,,ENST00000308453,;SLC17A3,intron_variant,,ENST00000506105,;SLC17A3,intron_variant,,ENST00000449356,;	A	ENST00000397060	Transcript	missense_variant	689/2052	579/1497	193/498	W/C	tgG/tgT		1		-1	SLC17A3	HGNC	HGNC:10931	protein_coding	YES	CCDS47385.1	ENSP00000380250	O00476		UPI0001536779	NM_001098486.1	deleterious(0)		5/13		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF134,Superfamily_domains:SSF103473																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	25861670	25861670	C	A	1	0	0	0	0	1	0	0	0	14683	624	22	2		2	SLC17A3	6	25861670	Missense_Mutation	SNP	C	C3L-00144_TP	1265705	25861670	144944309	623	4902											
HIST1H2BK	0	.	GRCh38	chr6	27146777	27146777	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccttcttgggcgcgggagCggacttcgctggttccggca	3	9	16	13	5	1	0	0	0	1	0	3	2	2	2	2	5	1	3	2	5	0	4	rs373240509		C3L-00144_TP	C3L-00144_NB	C	C																c.22G>T	p.Ala8Ser	p.A8S	ENST00000356950	1/1	172	114	58	126	126	0	varscan-mutect	HIST1H2BK,missense_variant,p.Ala8Ser,ENST00000356950,NM_080593.2;HIST1H2AH,upstream_gene_variant,,ENST00000377459,NM_080596.2;MIR3143,upstream_gene_variant,,ENST00000584253,;	A	ENST00000356950	Transcript	missense_variant	22/381	22/381	8/126	A/S	Gct/Tct	rs373240509	1		-1	HIST1H2BK	HGNC	HGNC:13954	protein_coding	YES	CCDS4621.1	ENSP00000349430	O60814	A0A024RCL8	UPI0000073CF8	NM_080593.2	tolerated_low_confidence(0.06)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23428,Gene3D:1.10.20.10,Superfamily_domains:SSF47113																	MODERATE	1	SNV				1										PASS		rs373240509	.												A	3	1	12	27146777	27146777	C	A	1	0	0	0	0	1	0	0	0	7038	768	27	1		1	HIST1H2BK	6	27146777	Missense_Mutation	SNP	C	C3L-00144_TP	1285107	27146777	143659202	624	4903											
POM121L2	0	.	GRCh38	chr6	27310497	27310497	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagattgaagatgctgcAgctgtgactgaaattctgga	13	10	13	5	0	1	5	0	3	1	2	1	8	1	6	0	1	3	3	0	1	3	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1674T>A	p.=	p.A558A	ENST00000444565	1/1	247	154	93	170	170	0	strelka-varscan-mutect	POM121L2,synonymous_variant,p.=,ENST00000444565,NM_033482.3;POM121L2,intron_variant,,ENST00000429945,;	T	ENST00000444565	Transcript	synonymous_variant	1674/3108	1674/3108	558/1035	A	gcT/gcA		1		-1	POM121L2	HGNC	HGNC:13973	protein_coding	YES	CCDS59497.1	ENSP00000392726	Q96KW2		UPI0000198C27	NM_033482.3			1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20,Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		.	.												T	2	4	12	27310497	27310497	A	T	1	0	0	0	0	0	0	0	1	12353	175	7	4		4	POM121L2	6	27310497	Silent	SNP	A	C3L-00144_TP	163720	27310497	143495482	625	4904											
HIST1H2BO	0	.	GRCh38	chr6	27893680	27893680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaatgacatctttgagcGcatcgctggcgaggcttccc	7	10	11	13	4	2	2	1	2	1	0	4	3	3	2	1	2	1	3	1	2	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.218G>T	p.Arg73Leu	p.R73L	ENST00000616182	1/1	462	415	47	301	301	0	strelka-varscan-mutect	HIST1H2BO,missense_variant,p.Arg73Leu,ENST00000616182,NM_003527.4;HIST1H3J,upstream_gene_variant,,ENST00000359303,NM_003535.2;HIST1H2AM,upstream_gene_variant,,ENST00000359611,NM_003514.2;RNU7-26P,downstream_gene_variant,,ENST00000458980,;HIST1H3J,upstream_gene_variant,,ENST00000479986,;	T	ENST00000616182	Transcript	missense_variant	218/381	218/381	73/126	R/L	cGc/cTc		1		1	HIST1H2BO	HGNC	HGNC:4758	protein_coding	YES	CCDS4640.1	ENSP00000477527	P23527		UPI0000073C3C	NM_003527.4	deleterious_low_confidence(0.01)		1/1		Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00621,hmmpanther:PTHR23428,SMART_domains:SM00427,Superfamily_domains:SSF47113																	MODERATE	1	SNV				1										PASS		rs990218942	.												T	3	4	12	27893680	27893680	G	T	1	0	0	0	0	1	0	0	0	7042	1087	38	1		1	HIST1H2BO	6	27893680	Missense_Mutation	SNP	G	C3L-00144_TP	583183	27893680	142912299	626	4905											
OR2B6	0	.	GRCh38	chr6	27957937	27957937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatacagtctgctgaaGgtcgacaaaaagcatttggg	13	9	13	6	1	1	2	0	2	1	0	2	4	1	3	0	3	3	2	0	3	4	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.697G>T	p.Gly233Cys	p.G233C	ENST00000244623	1/1	117	108	9	96	96	0	strelka-varscan-mutect	OR2B6,missense_variant,p.Gly233Cys,ENST00000244623,NM_012367.1;	T	ENST00000244623	Transcript	missense_variant	697/942	697/942	233/313	G/C	Ggt/Tgt		1		1	OR2B6	HGNC	HGNC:8241	protein_coding	YES	CCDS4642.1	ENSP00000244623	P58173	A0A126GW55	UPI000003F061	NM_012367.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF202,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1358866464	.												T	3	4	12	27957937	27957937	G	T	1	0	0	0	0	1	0	0	0	11070	1000	35	2		2	OR2B6	6	27957937	Missense_Mutation	SNP	G	C3L-00144_TP	64257	27957937	142848042	627	4906											
ZKSCAN4	0	.	GRCh38	chr6	28245493	28245493	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgaattttgtgatgttCaaggaggctgcagctctggc	9	13	13	6	0	2	2	1	2	1	0	2	3	2	3	0	3	2	5	0	3	3	4	rs751143499		C3L-00144_TP	C3L-00144_NB	C	C																c.1261G>T	p.Glu421Ter	p.E421*	ENST00000377294	5/5	152	92	60	116	116	0	strelka-varscan-mutect	ZKSCAN4,stop_gained,p.Glu421Ter,ENST00000377294,NM_019110.4;	A	ENST00000377294	Transcript	stop_gained	1505/2375	1261/1638	421/545	E/*	Gaa/Taa	rs751143499	1		-1	ZKSCAN4	HGNC	HGNC:13854	protein_coding	YES	CCDS4647.1	ENSP00000366509	Q969J2	A0A0S2Z658	UPI000013C355	NM_019110.4			5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF72,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		rs751143499	.												A	4	1	12	28245493	28245493	C	A	1	0	0	0	0	0	1	0	0	18267	835	29	2		2	ZKSCAN4	6	28245493	Nonsense_Mutation	SNP	C	C3L-00144_TP	287556	28245493	142560486	628	4907											
OR10C1	0	.	GRCh38	chr6	29440376	29440376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagccatggcctatgacCgctatgcagccatctgtgaa	9	9	11	12	1	1	2	0	2	1	0	1	2	1	2	4	2	3	3	4	2	3	2	rs17177639		C3L-00144_TP	C3L-00144_NB	C	C																c.361C>A	p.Arg121Ser	p.R121S	ENST00000444197	1/1	250	219	31	175	175	0	strelka-varscan-mutect	OR10C1,missense_variant,p.Arg121Ser,ENST00000444197,NM_013941.3;OR10C1,missense_variant,p.Arg123Ser,ENST00000622521,;OR11A1,intron_variant,,ENST00000377149,;	A	ENST00000444197	Transcript	missense_variant	1071/1649	361/939	121/312	R/S	Cgc/Agc	rs17177639	1		1	OR10C1	HGNC	HGNC:8165	protein_coding	YES	CCDS34364.1	ENSP00000419119	Q96KK4	A0A126GV80	UPI000014068E	NM_013941.3	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF191,Superfamily_domains:SSF81321												19833159					MODERATE	1	SNV				1										PASS		rs17177639	.												A	3	1	12	29440376	29440376	C	A	1	0	0	0	0	1	0	0	0	10973	652	23	1		1	OR10C1	6	29440376	Missense_Mutation	SNP	C	C3L-00144_TP	1194883	29440376	141365603	629	4908											
OR10C1	0	.	GRCh38	chr6	29440734	29440734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaaggccttctccacctGctcctcccacctgatcatgg	6	9	7	19	1	2	1	1	1	1	0	5	1	4	1	7	2	1	2	7	2	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.719G>T	p.Cys240Phe	p.C240F	ENST00000444197	1/1	345	209	136	264	264	0	strelka-varscan-mutect	OR10C1,missense_variant,p.Cys240Phe,ENST00000444197,NM_013941.3;OR10C1,missense_variant,p.Cys242Phe,ENST00000622521,;OR11A1,intron_variant,,ENST00000377149,;	T	ENST00000444197	Transcript	missense_variant	1429/1649	719/939	240/312	C/F	tGc/tTc		1		1	OR10C1	HGNC	HGNC:8165	protein_coding	YES	CCDS34364.1	ENSP00000419119	Q96KK4	A0A126GV80	UPI000014068E	NM_013941.3	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF191,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs755081985	.												T	3	4	12	29440734	29440734	G	T	1	0	0	0	0	1	0	0	0	10973	1319	46	2		2	OR10C1	6	29440734	Missense_Mutation	SNP	G	C3L-00144_TP	358	29440734	141365245	630	4909											
RPP21	0	.	GRCh38	chr6	30345399	30345399	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagcggctcgtcttgcggcgGtgagacagccacggggcggg	6	5	19	11	6	1	1	0	1	1	1	2	2	1	1	1	6	3	1	1	6	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1205+1G>T		p.X402_splice	ENST00000623385		237	142	95	192	192	0	strelka-varscan-mutect	TRIM39-RPP21,splice_donor_variant,,ENST00000623385,NM_001199119.1;RPP21,splice_donor_variant,,ENST00000428040,;RPP21,splice_donor_variant,,ENST00000433076,NM_001199120.1;RPP21,splice_donor_variant,,ENST00000442966,NM_024839.2;RPP21,splice_donor_variant,,ENST00000436442,NM_001199121.1;TRIM39,downstream_gene_variant,,ENST00000376659,NM_172016.2;TRIM39,downstream_gene_variant,,ENST00000376656,NM_021253.3;TRIM39,downstream_gene_variant,,ENST00000396551,;TRIM39,downstream_gene_variant,,ENST00000396548,;TRIM39,downstream_gene_variant,,ENST00000396547,;TRIM39,downstream_gene_variant,,ENST00000420746,;RPP21,splice_donor_variant,,ENST00000466327,;RPP21,splice_donor_variant,,ENST00000489124,;RPP21,intron_variant,,ENST00000491477,;RPP21,non_coding_transcript_exon_variant,,ENST00000498414,;RPP21,non_coding_transcript_exon_variant,,ENST00000473266,;	T	ENST00000623385	Transcript	splice_donor_variant	-/1698	1205/1512	402/503				1		1	TRIM39-RPP21	HGNC	HGNC:38845	protein_coding	YES	CCDS78121.1	ENSP00000485378		A0A096LP39	UPI0001E92A3E	NM_001199119.1				8/10																		HIGH		SNV	5			1										PASS		.	.												T	5	4	12	30345399	30345399	G	T	1	0	0	0	0	0	0	1	0	13863	1275	44	2		2	RPP21	6	30345399	Splice_Site	SNP	G	C3L-00144_TP	904665	30345399	140460580	631	4910											
ABCF1	0	.	GRCh38	chr6	30586209	30586209	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaagatgaggaatcccagGaggcccctgagctcctgaag	12	5	12	12	0	0	4	0	3	0	1	2	6	2	6	5	3	1	1	5	3	3	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1789G>T	p.Glu597Ter	p.E597*	ENST00000326195	18/25	151	89	62	110	110	0	strelka-varscan-mutect	ABCF1,stop_gained,p.Glu597Ter,ENST00000326195,NM_001025091.1;ABCF1,stop_gained,p.Glu559Ter,ENST00000376545,NM_001090.2;ABCF1,downstream_gene_variant,,ENST00000441867,;MIR877,downstream_gene_variant,,ENST00000401282,;ABCF1,stop_gained,p.Glu348Ter,ENST00000475993,;ABCF1,upstream_gene_variant,,ENST00000479542,;	T	ENST00000326195	Transcript	stop_gained	1901/3481	1789/2538	597/845	E/*	Gag/Tag		1		1	ABCF1	HGNC	HGNC:70	protein_coding	YES	CCDS34380.1	ENSP00000313603	Q8NE71		UPI0000141876	NM_001025091.1			18/25		hmmpanther:PTHR19211,hmmpanther:PTHR19211:SF14																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	30586209	30586209	G	T	1	0	0	0	0	0	1	0	0	69	1175	41	2		2	ABCF1	6	30586209	Nonsense_Mutation	SNP	G	C3L-00144_TP	240810	30586209	140219770	632	4911											
DHX16	0	.	GRCh38	chr6	30656229	30656229	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagatcattttggacagcaTggggtccaccggcagctctg	9	10	12	10	1	2	1	1	0	1	1	3	2	3	2	2	4	2	3	2	4	1	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2467A>T	p.Met823Leu	p.M823L	ENST00000376442	16/20	288	185	103	156	156	0	strelka-varscan-mutect	DHX16,missense_variant,p.Met823Leu,ENST00000376442,NM_003587.4,NM_001164239.1;DHX16,missense_variant,p.Met342Leu,ENST00000376437,;C6orf136,downstream_gene_variant,,ENST00000293604,NM_001161376.1;C6orf136,downstream_gene_variant,,ENST00000446773,;C6orf136,downstream_gene_variant,,ENST00000376473,NM_001109938.2;C6orf136,downstream_gene_variant,,ENST00000465699,;C6orf136,downstream_gene_variant,,ENST00000376471,NM_145029.3;C6orf136,downstream_gene_variant,,ENST00000467801,;C6orf136,downstream_gene_variant,,ENST00000468785,;DHX16,downstream_gene_variant,,ENST00000480966,;C6orf136,downstream_gene_variant,,ENST00000488383,;C6orf136,downstream_gene_variant,,ENST00000484551,;C6orf136,downstream_gene_variant,,ENST00000487873,;C6orf136,downstream_gene_variant,,ENST00000463794,;C6orf136,downstream_gene_variant,,ENST00000460172,;	A	ENST00000376442	Transcript	missense_variant	2663/3445	2467/3126	823/1041	M/L	Atg/Ttg		1		-1	DHX16	HGNC	HGNC:2739	protein_coding	YES	CCDS4685.1	ENSP00000365625	O60231	Q5SQH4	UPI000000D73D	NM_003587.4,NM_001164239.1	deleterious(0.01)		16/20		hmmpanther:PTHR18934:SF83,hmmpanther:PTHR18934,Pfam_domain:PF04408,SMART_domains:SM00847,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	30656229	30656229	T	A	1	0	0	0	0	1	0	0	0	4306	1464	51	4		4	DHX16	6	30656229	Missense_Mutation	SNP	T	C3L-00144_TP	70020	30656229	140149750	633	4912											
MDC1	0	.	GRCh38	chr6	30705089	30705089	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggctatagggacagttGattcagggttcttcacagag	10	10	14	7	0	3	2	2	1	1	1	3	3	3	3	0	4	0	3	0	4	2	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.4094C>A	p.Ser1365Ter	p.S1365*	ENST00000376406	10/15	188	174	14	157	156	1	strelka-varscan-mutect	MDC1,stop_gained,p.Ser1365Ter,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,;	T	ENST00000376406	Transcript	stop_gained	4742/7576	4094/6270	1365/2089	S/*	tCa/tAa		1		-1	MDC1	HGNC	HGNC:21163	protein_coding	YES	CCDS34384.1	ENSP00000365588	Q14676		UPI00001AF453	NM_014641.2			10/15																			HIGH		SNV	5			1										PASS		.	.												T	4	4	12	30705089	30705089	G	T	1	0	0	0	0	0	1	0	0	9341	1294	45	2		2	MDC1	6	30705089	Nonsense_Mutation	SNP	G	C3L-00144_TP	48860	30705089	140100890	634	4913											
DDX39B	0	.	GRCh38	chr6	31536561	31536561	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttaatgtgtttgaggttGaggctcttatttcgagccag	7	17	12	5	1	1	2	0	2	1	0	2	3	1	2	1	2	1	4	1	2	2	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.555C>T	p.=	p.L185L	ENST00000396172	5/11	245	224	21	139	139	0	strelka-varscan-mutect	DDX39B,synonymous_variant,p.=,ENST00000396172,NM_004640.6;DDX39B,synonymous_variant,p.=,ENST00000458640,NM_080598.5;DDX39B,synonymous_variant,p.=,ENST00000376177,;DDX39B,synonymous_variant,p.=,ENST00000427214,;DDX39B,synonymous_variant,p.=,ENST00000456662,;DDX39B,synonymous_variant,p.=,ENST00000419338,;DDX39B,synonymous_variant,p.=,ENST00000431908,;DDX39B,synonymous_variant,p.=,ENST00000428098,;DDX39B,downstream_gene_variant,,ENST00000456976,;DDX39B,downstream_gene_variant,,ENST00000428450,;DDX39B,downstream_gene_variant,,ENST00000449757,;DDX39B,downstream_gene_variant,,ENST00000418897,;DDX39B,downstream_gene_variant,,ENST00000419020,;DDX39B,upstream_gene_variant,,ENST00000417023,;SNORD84,downstream_gene_variant,,ENST00000584275,;SNORD117,upstream_gene_variant,,ENST00000364915,;ATP6V1G2-DDX39B,3_prime_UTR_variant,,ENST00000376185,;DDX39B,non_coding_transcript_exon_variant,,ENST00000481456,;DDX39B,non_coding_transcript_exon_variant,,ENST00000462256,;DDX39B,non_coding_transcript_exon_variant,,ENST00000482195,;DDX39B,upstream_gene_variant,,ENST00000474961,;DDX39B,upstream_gene_variant,,ENST00000484566,;ATP6V1G2-DDX39B,downstream_gene_variant,,ENST00000480131,;DDX39B,upstream_gene_variant,,ENST00000478365,;	A	ENST00000396172	Transcript	synonymous_variant	1186/2133	555/1287	185/428	L	ctC/ctT		1		-1	DDX39B	HGNC	HGNC:13917	protein_coding	YES	CCDS4697.1	ENSP00000379475	Q13838	A0A024RCM3	UPI0000001D0B	NM_004640.6			5/11		Gene3D:3.40.50.300,Pfam_domain:PF00270,PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF204,SMART_domains:SM00487,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	31536561	31536561	G	A	1	0	0	0	0	0	0	0	1	4160	1277	45	3		3	DDX39B	6	31536561	Silent	SNP	G	C3L-00144_TP	831472	31536561	139269418	635	4914											
BAG6	0	.	GRCh38	chr6	31641362	31641362	+	Frame_Shift_Del	DEL	C	C	-																															agcaatgctattaaactgctCttggagaaattccaggtttg																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2530delG	p.Glu844SerfsTer36	p.E844Sfs*36	ENST00000375964	18/25	183	116	67	150	150	0	sindel-varindel	BAG6,frameshift_variant,p.Glu844SerfsTer36,ENST00000375964,NM_004639.3;BAG6,frameshift_variant,p.Glu838SerfsTer36,ENST00000211379,NM_080703.2,NM_080702.2;BAG6,frameshift_variant,p.Glu838SerfsTer36,ENST00000375976,NM_001098534.1;BAG6,frameshift_variant,p.Glu838SerfsTer36,ENST00000362049,NM_001199698.1;BAG6,frameshift_variant,p.Glu712SerfsTer36,ENST00000439687,NM_001199697.1;PRRC2A,downstream_gene_variant,,ENST00000376033,NM_004638.3;PRRC2A,downstream_gene_variant,,ENST00000376007,NM_080686.2;BAG6,downstream_gene_variant,,ENST00000437771,;BAG6,downstream_gene_variant,,ENST00000435080,;BAG6,upstream_gene_variant,,ENST00000441793,;BAG6,downstream_gene_variant,,ENST00000438149,;BAG6,downstream_gene_variant,,ENST00000453833,;BAG6,upstream_gene_variant,,ENST00000422948,;BAG6,downstream_gene_variant,,ENST00000470875,;BAG6,downstream_gene_variant,,ENST00000469182,;BAG6,downstream_gene_variant,,ENST00000465348,;BAG6,upstream_gene_variant,,ENST00000464126,;BAG6,upstream_gene_variant,,ENST00000464869,;BAG6,downstream_gene_variant,,ENST00000462682,;BAG6,non_coding_transcript_exon_variant,,ENST00000462875,;PRRC2A,downstream_gene_variant,,ENST00000492691,;PRRC2A,downstream_gene_variant,,ENST00000487839,;PRRC2A,downstream_gene_variant,,ENST00000462617,;PRRC2A,downstream_gene_variant,,ENST00000482441,;	-	ENST00000375964	Transcript	frameshift_variant	2844/3815	2530/3399	844/1132	E/X	Gag/ag		1		-1	BAG6	HGNC	HGNC:13919	protein_coding	YES	CCDS47403.1	ENSP00000365131	P46379		UPI000047029D	NM_004639.3			18/25		hmmpanther:PTHR15204:SF0,hmmpanther:PTHR15204																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	12	31641362	31641362	C	-	1	0	1	0	1	0	0	0	0	1449	922	32	0		0	BAG6	6	31641362	Frame_Shift_Del	DEL	C	C3L-00144_TP	104801	31641362	139164617	636	4915	113	2									
BAG6	0	.	GRCh38	chr6	31641363	31641363	+	Missense_Mutation	SNP	T	T	A																															gcaatgctattaaactgctcTtggagaaattccaggtttgt																								novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2529A>T	p.Gln843His	p.Q843H	ENST00000375964	18/25	211	134	77	154	154	0	strelka-mutect	BAG6,missense_variant,p.Gln843His,ENST00000375964,NM_004639.3;BAG6,missense_variant,p.Gln837His,ENST00000211379,NM_080703.2,NM_080702.2;BAG6,missense_variant,p.Gln837His,ENST00000375976,NM_001098534.1;BAG6,missense_variant,p.Gln837His,ENST00000362049,NM_001199698.1;BAG6,missense_variant,p.Gln711His,ENST00000439687,NM_001199697.1;PRRC2A,downstream_gene_variant,,ENST00000376033,NM_004638.3;PRRC2A,downstream_gene_variant,,ENST00000376007,NM_080686.2;BAG6,downstream_gene_variant,,ENST00000437771,;BAG6,downstream_gene_variant,,ENST00000435080,;BAG6,upstream_gene_variant,,ENST00000441793,;BAG6,downstream_gene_variant,,ENST00000438149,;BAG6,downstream_gene_variant,,ENST00000453833,;BAG6,upstream_gene_variant,,ENST00000422948,;BAG6,downstream_gene_variant,,ENST00000470875,;BAG6,downstream_gene_variant,,ENST00000469182,;BAG6,downstream_gene_variant,,ENST00000465348,;BAG6,upstream_gene_variant,,ENST00000464126,;BAG6,upstream_gene_variant,,ENST00000464869,;BAG6,downstream_gene_variant,,ENST00000462682,;BAG6,non_coding_transcript_exon_variant,,ENST00000462875,;PRRC2A,downstream_gene_variant,,ENST00000492691,;PRRC2A,downstream_gene_variant,,ENST00000487839,;PRRC2A,downstream_gene_variant,,ENST00000462617,;PRRC2A,downstream_gene_variant,,ENST00000482441,;	A	ENST00000375964	Transcript	missense_variant	2843/3815	2529/3399	843/1132	Q/H	caA/caT		1		-1	BAG6	HGNC	HGNC:13919	protein_coding	YES	CCDS47403.1	ENSP00000365131	P46379		UPI000047029D	NM_004639.3	deleterious(0)		18/25		hmmpanther:PTHR15204:SF0,hmmpanther:PTHR15204																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	31641363	31641363	T	A	1	0	0	0	0	1	0	0	0	1449	1606	56	4		4	BAG6	6	31641363	Missense_Mutation	SNP	T	C3L-00144_TP	1	31641363	139164616	637	4916	113	2									
BAG6	0	.	GRCh38	chr6	31649315	31649315	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgagtggctgaggcagaccCcgtcccagaagatgccccag	10	5	13	13	1	0	5	0	2	0	3	1	5	1	5	5	2	1	2	5	2	1	0			C3L-00144_TP	C3L-00144_NB	C	C																c.307G>T	p.Gly103Trp	p.G103W	ENST00000375964	4/25	220	120	100	126	126	0	strelka-varscan-mutect	BAG6,missense_variant,p.Gly103Trp,ENST00000375964,NM_004639.3;BAG6,missense_variant,p.Gly103Trp,ENST00000211379,NM_080703.2,NM_080702.2;BAG6,missense_variant,p.Gly103Trp,ENST00000375976,NM_001098534.1;BAG6,missense_variant,p.Gly103Trp,ENST00000362049,NM_001199698.1;BAG6,missense_variant,p.Gly103Trp,ENST00000439687,NM_001199697.1;BAG6,missense_variant,p.Gly103Trp,ENST00000437771,;BAG6,missense_variant,p.Gly103Trp,ENST00000435080,;BAG6,missense_variant,p.Gly103Trp,ENST00000424480,;BAG6,missense_variant,p.Gly103Trp,ENST00000428326,;BAG6,missense_variant,p.Gly103Trp,ENST00000451898,;BAG6,missense_variant,p.Gly103Trp,ENST00000433828,;BAG6,missense_variant,p.Gly103Trp,ENST00000452994,;BAG6,missense_variant,p.Gly103Trp,ENST00000456622,;BAG6,missense_variant,p.Gly103Trp,ENST00000456286,;BAG6,missense_variant,p.Gly103Trp,ENST00000434444,;BAG6,missense_variant,p.Gly103Trp,ENST00000424176,;BAG6,missense_variant,p.Gly103Trp,ENST00000441054,;BAG6,missense_variant,p.Gly103Trp,ENST00000454165,;APOM,upstream_gene_variant,,ENST00000375918,;BAG6,upstream_gene_variant,,ENST00000438149,;APOM,upstream_gene_variant,,ENST00000375920,NM_001256169.1;BAG6,upstream_gene_variant,,ENST00000453833,;BAG6,upstream_gene_variant,,ENST00000470875,;BAG6,upstream_gene_variant,,ENST00000469182,;BAG6,upstream_gene_variant,,ENST00000462682,;	A	ENST00000375964	Transcript	missense_variant	621/3815	307/3399	103/1132	G/W	Ggg/Tgg	COSM5640465,COSM5640466	1		-1	BAG6	HGNC	HGNC:13919	protein_coding	YES	CCDS47403.1	ENSP00000365131	P46379		UPI000047029D	NM_004639.3	deleterious(0)		4/25		Low_complexity_(Seg):seg,hmmpanther:PTHR15204:SF0,hmmpanther:PTHR15204,Superfamily_domains:SSF54236											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	12	31649315	31649315	C	A	1	0	0	0	0	1	0	0	0	1449	623	22	2		2	BAG6	6	31649315	Missense_Mutation	SNP	C	C3L-00144_TP	7952	31649315	139156664	638	4917											
TNXB	0	.	GRCh38	chr6	32042309	32042309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaaaccatgggcataGtcctcccagtccctccagaa	11	8	6	16	0	0	1	0	0	0	1	5	1	5	1	6	1	1	1	6	1	4	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1551C>A	p.Asp517Glu	p.D517E	ENST00000451343	10/13	339	306	33	247	247	0	varscan-mutect	TNXB,missense_variant,p.Asp4088Glu,ENST00000375244,NM_019105.6;TNXB,missense_variant,p.Asp1806Glu,ENST00000611016,;TNXB,missense_variant,p.Asp517Glu,ENST00000451343,NM_032470.3;CYP21A2,downstream_gene_variant,,ENST00000418967,NM_000500.7;CYP21A2,downstream_gene_variant,,ENST00000435122,NM_001128590.3;CYP21A2,downstream_gene_variant,,ENST00000478281,;CYP21A2,downstream_gene_variant,,ENST00000471671,;TNXB,non_coding_transcript_exon_variant,,ENST00000490077,;TNXB,non_coding_transcript_exon_variant,,ENST00000498094,;CYP21A2,downstream_gene_variant,,ENST00000479074,;CYP21A2,downstream_gene_variant,,ENST00000479730,;CYP21A2,downstream_gene_variant,,ENST00000486063,;CYP21A2,downstream_gene_variant,,ENST00000483041,;CYP21A2,downstream_gene_variant,,ENST00000466779,;CYP21A2,downstream_gene_variant,,ENST00000466879,;CYP21A2,downstream_gene_variant,,ENST00000480027,;CYP21A2,downstream_gene_variant,,ENST00000488465,;CYP21A2,downstream_gene_variant,,ENST00000464325,;CYP21A2,downstream_gene_variant,,ENST00000469053,;CYP21A2,downstream_gene_variant,,ENST00000462278,;	T	ENST00000451343	Transcript	missense_variant	2460/3125	1551/2022	517/673	D/E	gaC/gaA		1		-1	TNXB	HGNC	HGNC:11976	protein_coding	YES	CCDS4736.1	ENSP00000407685	P22105		UPI0000000E8E	NM_032470.3	tolerated(0.45)		10/13		PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF244,Gene3D:3.90.215.10,Pfam_domain:PF00147,SMART_domains:SM00186,Superfamily_domains:SSF56496																	MODERATE	1	SNV	1			1										PASS		rs1444918443	.												T	3	4	12	32042309	32042309	G	T	1	0	0	0	0	1	0	0	0	16820	1020	36	2		2	TNXB	6	32042309	Missense_Mutation	SNP	G	C3L-00144_TP	392994	32042309	138763670	639	4918											
EGFL8	0	.	GRCh38	chr6	32166699	32166699	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccgggcgctgtgttccAggaccatgtaccgcgttatg	6	10	14	11	4	0	1	0	1	0	0	1	2	1	2	4	2	2	4	4	2	2	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.225-2A>C		p.X75_splice	ENST00000395512		64	31	33	57	57	0	strelka-mutect	EGFL8,splice_acceptor_variant,,ENST00000395512,;EGFL8,splice_acceptor_variant,,ENST00000333845,NM_030652.3;EGFL8,splice_acceptor_variant,,ENST00000432129,;AGPAT1,downstream_gene_variant,,ENST00000395499,;AGPAT1,downstream_gene_variant,,ENST00000375107,NM_006411.3;AGPAT1,downstream_gene_variant,,ENST00000395497,;PPT2,downstream_gene_variant,,ENST00000395523,;AGPAT1,downstream_gene_variant,,ENST00000395496,;PPT2,downstream_gene_variant,,ENST00000324816,NM_001204103.1,NM_005155.6;AGPAT1,downstream_gene_variant,,ENST00000336984,NM_032741.4;AGPAT1,downstream_gene_variant,,ENST00000375104,;PPT2,downstream_gene_variant,,ENST00000375137,;PPT2,downstream_gene_variant,,ENST00000361568,NM_138717.2;PPT2,downstream_gene_variant,,ENST00000375143,;AGPAT1,downstream_gene_variant,,ENST00000617181,;AGPAT1,downstream_gene_variant,,ENST00000490711,;PPT2-EGFL8,downstream_gene_variant,,ENST00000453656,;PPT2,downstream_gene_variant,,ENST00000493548,;AGPAT1,downstream_gene_variant,,ENST00000476663,;EGFL8,upstream_gene_variant,,ENST00000489721,;PPT2-EGFL8,splice_acceptor_variant,,ENST00000422437,;PPT2-EGFL8,splice_acceptor_variant,,ENST00000428388,;EGFL8,splice_acceptor_variant,,ENST00000466239,;PPT2-EGFL8,splice_acceptor_variant,,ENST00000583227,;PPT2-EGFL8,splice_acceptor_variant,,ENST00000421600,;EGFL8,splice_acceptor_variant,,ENST00000482938,;PPT2-EGFL8,downstream_gene_variant,,ENST00000585246,;PPT2-EGFL8,downstream_gene_variant,,ENST00000479001,;	C	ENST00000395512	Transcript	splice_acceptor_variant	-/1312	225/882	75/293				1		1	EGFL8	HGNC	HGNC:13944	protein_coding	YES	CCDS4743.1	ENSP00000378888	Q99944		UPI000006FB40					3/8																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	12	32166699	32166699	A	C	1	0	0	0	0	0	0	1	0	4801	202	7	5		5	EGFL8	6	32166699	Splice_Site	SNP	A	C3L-00144_TP	124390	32166699	138639280	640	4919											
COL11A2	0	.	GRCh38	chr6	33165662	33165662	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccgcagggagtcgagtGagccaaagatctcctccagc	9	6	11	15	2	1	2	0	1	1	1	5	4	3	3	5	1	2	1	5	1	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.4379C>A	p.Ser1460Ter	p.S1460*	ENST00000374708	61/64	579	541	38	531	531	0	strelka-varscan-mutect	COL11A2,stop_gained,p.Ser1546Ter,ENST00000341947,NM_080680.2;COL11A2,stop_gained,p.Ser1460Ter,ENST00000374708,NM_080681.2;COL11A2,stop_gained,p.Ser1439Ter,ENST00000361917,NM_080679.2;COL11A2,non_coding_transcript_exon_variant,,ENST00000477772,;	T	ENST00000374708	Transcript	stop_gained	4638/6209	4379/4953	1460/1650	S/*	tCa/tAa		1		-1	COL11A2	HGNC	HGNC:2187	protein_coding	YES	CCDS43452.1	ENSP00000363840		Q4VXY6	UPI000013E9A5	NM_080681.2			61/64		Pfam_domain:PF01410,PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509,SMART_domains:SM00038																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	12	33165662	33165662	G	T	1	0	0	0	0	0	1	0	0	3456	1294	45	2		2	COL11A2	6	33165662	Nonsense_Mutation	SNP	G	C3L-00144_TP	998963	33165662	137640317	641	4920											
ITPR3	0	.	GRCh38	chr6	33672102	33672102	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgagccgcaagcagtcCgtcttcagtgcccccagcct	6	8	11	16	2	2	1	1	1	1	0	3	1	3	1	5	0	5	3	5	0	1	1	rs370555491		C3L-00144_TP	C3L-00144_NB	C	C																c.2802C>A	p.=	p.S934S	ENST00000374316	23/59	140	124	16	93	93	0	strelka-varscan-mutect	ITPR3,synonymous_variant,p.=,ENST00000374316,;ITPR3,synonymous_variant,p.=,ENST00000605930,NM_002224.3;	A	ENST00000374316	Transcript	synonymous_variant	3862/9870	2802/8016	934/2671	S	tcC/tcA	rs370555491,COSM483952	1		1	ITPR3	HGNC	HGNC:6182	protein_coding	YES	CCDS4783.1	ENSP00000363435	Q14573		UPI000013CB74				23/59		hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715											0,1						LOW	1	SNV	5		0,1	1										PASS		rs370555491	.												A	2	1	12	33672102	33672102	C	A	1	0	0	0	0	0	0	0	1	7828	639	23	1		1	ITPR3	6	33672102	Silent	SNP	C	C3L-00144_TP	506440	33672102	137133877	642	4921											
CPNE5	0	.	GRCh38	chr6	36798191	36798191	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttccaggcggctcccAggggaccccacaatctctcc	6	8	10	17	1	1	0	0	0	1	0	5	1	4	1	5	5	0	2	5	5	1	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.378T>A	p.=	p.P126P	ENST00000244751	6/21	195	163	32	166	166	0	strelka-varscan-mutect	CPNE5,synonymous_variant,p.=,ENST00000244751,NM_020939.1;CPNE5,synonymous_variant,p.=,ENST00000633136,;CPNE5,synonymous_variant,p.=,ENST00000633280,;	T	ENST00000244751	Transcript	synonymous_variant	1003/3897	378/1782	126/593	P	ccT/ccA		1		-1	CPNE5	HGNC	HGNC:2318	protein_coding	YES	CCDS4825.1	ENSP00000244751	Q9HCH3		UPI0000127C15	NM_020939.1			6/21		hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF51,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	36798191	36798191	A	T	1	0	0	0	0	0	0	0	1	3610	175	7	4		4	CPNE5	6	36798191	Silent	SNP	A	C3L-00144_TP	3126089	36798191	134007788	643	4922											
ZFAND3	0	.	GRCh38	chr6	38116581	38116581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttttggtcagattcacagtCtgagaatgaggcttcaccag	10	12	11	8	0	4	3	3	2	1	2	4	4	4	3	1	2	0	2	1	2	1	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.371C>G	p.Ser124Cys	p.S124C	ENST00000287218	5/6	63	49	14	59	59	0	strelka-varscan-mutect	ZFAND3,missense_variant,p.Ser124Cys,ENST00000287218,NM_021943.2;ZFAND3,missense_variant,p.Ser102Cys,ENST00000373391,;ZFAND3,missense_variant,p.Ser155Cys,ENST00000474522,;ZFAND3,missense_variant,p.Ser101Cys,ENST00000373389,;ZFAND3,non_coding_transcript_exon_variant,,ENST00000440482,;	G	ENST00000287218	Transcript	missense_variant	818/3366	371/684	124/227	S/C	tCt/tGt		1		1	ZFAND3	HGNC	HGNC:18019	protein_coding	YES	CCDS4836.1	ENSP00000287218	Q9H8U3	A0A024RD12	UPI000006E3A4	NM_021943.2	deleterious(0.02)		5/6		hmmpanther:PTHR10634,hmmpanther:PTHR10634:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	38116581	38116581	C	G	1	0	0	0	0	1	0	0	0	18205	913	32	4		4	ZFAND3	6	38116581	Missense_Mutation	SNP	C	C3L-00144_TP	1318390	38116581	132689398	644	4923											
DNAH8	0	.	GRCh38	chr6	38929538	38929538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgaaccataaatattttCgcacacacttggaggacagc	13	10	7	11	1	1	1	0	1	1	0	2	3	1	3	1	2	2	1	1	2	4	5	rs758179326		C3L-00144_TP	C3L-00144_NB	C	C																c.11146C>T	p.Arg3716Cys	p.R3716C	ENST00000327475	75/93	133	99	34	95	95	0	strelka-varscan-mutect	DNAH8,missense_variant,p.Arg3716Cys,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Arg3499Cys,ENST00000359357,;DNAH8,missense_variant,p.Arg3716Cys,ENST00000449981,;RP1-207H1.3,non_coding_transcript_exon_variant,,ENST00000453417,;RP1-207H1.3,intron_variant,,ENST00000416948,;RP1-207H1.3,intron_variant,,ENST00000418399,;RP1-207H1.2,downstream_gene_variant,,ENST00000407768,;	T	ENST00000327475	Transcript	missense_variant	11255/14360	11146/14124	3716/4707	R/C	Cgc/Tgc	rs758179326,COSM232188,COSM232189,COSM4355211	1		1	DNAH8	HGNC	HGNC:2952	protein_coding	YES	CCDS75447.1	ENSP00000333363		A0A075B6F3	UPI000179A984	NM_001206927.1	deleterious(0)		75/93		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF280,Pfam_domain:PF12781											0,1,1,1						MODERATE		SNV	5		0,1,1,1	1										PASS		rs758179326	.												T	3	4	12	38929538	38929538	C	T	1	0	0	0	0	1	0	0	0	4422	884	31	1		1	DNAH8	6	38929538	Missense_Mutation	SNP	C	C3L-00144_TP	812957	38929538	131876441	645	4924											
GLP1R	0	.	GRCh38	chr6	39073689	39073689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctactggctcttggtggaggGcgtgtacctgtacacactgc	6	11	13	11	1	1	0	0	0	1	0	1	1	1	1	1	4	4	3	1	4	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.743G>T	p.Gly248Val	p.G248V	ENST00000373256	7/13	189	169	20	161	161	0	strelka-varscan-mutect	GLP1R,missense_variant,p.Gly248Val,ENST00000373256,NM_002062.3;	T	ENST00000373256	Transcript	missense_variant	786/3105	743/1392	248/463	G/V	gGc/gTc		1		1	GLP1R	HGNC	HGNC:4324	protein_coding	YES	CCDS4839.1	ENSP00000362353	P43220		UPI0000061F20	NM_002062.3	deleterious(0)		7/13		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF245,hmmpanther:PTHR12011,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249																	MODERATE	1	SNV	1			1										PASS		rs1388310962	.												T	3	4	12	39073689	39073689	G	T	1	0	0	0	0	1	0	0	0	6331	1203	42	2		2	GLP1R	6	39073689	Missense_Mutation	SNP	G	C3L-00144_TP	144151	39073689	131732290	646	4925											
FOXP4	0	.	GRCh38	chr6	41587893	41587893	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaagacctgggccagtttAtcaagtaggtgtcaccccca	10	9	11	11	0	2	2	2	1	0	1	2	2	2	2	4	2	0	2	4	2	4	3	rs767996269		C3L-00144_TP	C3L-00144_NB	A	A																c.973A>T	p.Ile325Phe	p.I325F	ENST00000373060	8/17	185	163	22	100	100	0	strelka-varscan-mutect	FOXP4,missense_variant,p.Ile325Phe,ENST00000373060,NM_001012426.1;FOXP4,missense_variant,p.Ile324Phe,ENST00000373063,NM_138457.2;FOXP4,missense_variant,p.Ile325Phe,ENST00000307972,;FOXP4,missense_variant,p.Ile325Phe,ENST00000409208,;FOXP4,missense_variant,p.Ile323Phe,ENST00000373057,NM_001012427.1;FOXP4,downstream_gene_variant,,ENST00000451305,;	T	ENST00000373060	Transcript	missense_variant	1431/5948	973/2043	325/680	I/F	Atc/Ttc	rs767996269	1		1	FOXP4	HGNC	HGNC:20842	protein_coding	YES	CCDS34447.1	ENSP00000362151	Q8IVH2		UPI000007462D	NM_001012426.1	deleterious(0.01)		8/17		hmmpanther:PTHR11829:SF171,hmmpanther:PTHR11829,Pfam_domain:PF16159																	MODERATE	1	SNV	5			1										PASS		rs767996269	.												T	3	4	12	41587893	41587893	A	T	1	0	0	0	0	1	0	0	0	5894	463	16	4		4	FOXP4	6	41587893	Missense_Mutation	SNP	A	C3L-00144_TP	2514204	41587893	129218086	647	4926											
PTK7	0	.	GRCh38	chr6	43160851	43160851	+	Silent	SNP	G	G	T																															agtgagattgccagcgccctGggagacagcaccgtggacag																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3207G>T	p.=	p.L1069L	ENST00000481273	20/20	192	179	13	147	147	0	strelka-varscan-mutect	PTK7,synonymous_variant,p.=,ENST00000230419,NM_002821.4;PTK7,synonymous_variant,p.=,ENST00000345201,NM_152880.3;PTK7,synonymous_variant,p.=,ENST00000352931,NM_152882.3;PTK7,synonymous_variant,p.=,ENST00000349241,NM_152881.3;PTK7,synonymous_variant,p.=,ENST00000481273,NM_001270398.1;PTK7,synonymous_variant,p.=,ENST00000489707,;PTK7,downstream_gene_variant,,ENST00000473339,;PTK7,3_prime_UTR_variant,,ENST00000470019,;PTK7,3_prime_UTR_variant,,ENST00000230418,;PTK7,3_prime_UTR_variant,,ENST00000461389,;PTK7,non_coding_transcript_exon_variant,,ENST00000487673,;	T	ENST00000481273	Transcript	synonymous_variant	3277/3436	3207/3237	1069/1078	L	ctG/ctT		1		1	PTK7	HGNC	HGNC:9618	protein_coding	YES	CCDS59021.1	ENSP00000418754	Q13308		UPI0001B79423	NM_001270398.1			20/20		PROSITE_profiles:PS50011,Pfam_domain:PF07714																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	12	43160851	43160851	G	T	1	0	0	0	0	0	0	0	1	12921	1335	47	2		2	PTK7	6	43160851	Silent	SNP	G	C3L-00144_TP	1572958	43160851	127645128	648	4927	114	2									
PTK7	0	.	GRCh38	chr6	43160852	43160852	+	Nonsense_Mutation	SNP	G	G	T																															gtgagattgccagcgccctgGgagacagcaccgtggacagc																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3208G>T	p.Gly1070Ter	p.G1070*	ENST00000481273	20/20	191	176	15	145	145	0	strelka-varscan-mutect	PTK7,stop_gained,p.Gly1062Ter,ENST00000230419,NM_002821.4;PTK7,stop_gained,p.Gly1022Ter,ENST00000345201,NM_152880.3;PTK7,stop_gained,p.Gly1006Ter,ENST00000352931,NM_152882.3;PTK7,stop_gained,p.Gly932Ter,ENST00000349241,NM_152881.3;PTK7,stop_gained,p.Gly1070Ter,ENST00000481273,NM_001270398.1;PTK7,stop_gained,p.Gly357Ter,ENST00000489707,;PTK7,downstream_gene_variant,,ENST00000473339,;PTK7,3_prime_UTR_variant,,ENST00000470019,;PTK7,3_prime_UTR_variant,,ENST00000230418,;PTK7,3_prime_UTR_variant,,ENST00000461389,;PTK7,non_coding_transcript_exon_variant,,ENST00000487673,;	T	ENST00000481273	Transcript	stop_gained	3278/3436	3208/3237	1070/1078	G/*	Gga/Tga		1		1	PTK7	HGNC	HGNC:9618	protein_coding	YES	CCDS59021.1	ENSP00000418754	Q13308		UPI0001B79423	NM_001270398.1			20/20		PROSITE_profiles:PS50011																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	12	43160852	43160852	G	T	1	0	0	0	0	0	1	0	0	12921	1233	43	2		2	PTK7	6	43160852	Nonsense_Mutation	SNP	G	C3L-00144_TP	1	43160852	127645127	649	4928	114	2									
ABCC10	0	.	GRCh38	chr6	43447353	43447353	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgctggtgagcgtcgagcGgctggaagagtacacctgtg	8	8	16	9	3	0	2	0	1	0	1	1	4	0	3	1	3	4	3	1	3	2	1	rs369147311		C3L-00144_TP	C3L-00144_NB	G	G																c.3650G>C	p.Arg1217Pro	p.R1217P	ENST00000372530	17/22	370	351	19	206	206	0	strelka-varscan-mutect	ABCC10,missense_variant,p.Arg1189Pro,ENST00000244533,NM_033450.2;ABCC10,missense_variant,p.Arg1217Pro,ENST00000372530,NM_001198934.1;DLK2,downstream_gene_variant,,ENST00000357338,NM_206539.2;DLK2,downstream_gene_variant,,ENST00000372488,NM_023932.3;DLK2,downstream_gene_variant,,ENST00000372485,NM_001286656.1,NM_001286655.1;DLK2,downstream_gene_variant,,ENST00000430324,;ABCC10,upstream_gene_variant,,ENST00000505344,;ABCC10,non_coding_transcript_exon_variant,,ENST00000463024,;ABCC10,non_coding_transcript_exon_variant,,ENST00000437104,;ABCC10,non_coding_transcript_exon_variant,,ENST00000372512,;	C	ENST00000372530	Transcript	missense_variant	3865/5033	3650/4479	1217/1492	R/P	cGg/cCg	rs369147311	1		1	ABCC10	HGNC	HGNC:52	protein_coding	YES	CCDS56430.1	ENSP00000361608	Q5T3U5	A0A024RD21	UPI000004A062	NM_001198934.1	deleterious(0)		17/22		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF235,Gene3D:2hydA01,Superfamily_domains:SSF90123																	MODERATE	1	SNV	2			1										PASS		rs369147311	.												C	3	2	12	43447353	43447353	G	C	1	0	0	0	0	1	0	0	0	54	1116	39	4		4	ABCC10	6	43447353	Missense_Mutation	SNP	G	C3L-00144_TP	286501	43447353	127358626	650	4929											
PLA2G7	0	.	GRCh38	chr6	46716495	46716495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcaaggcgatcattatCttgggatggataatataaac	13	12	11	5	1	3	0	2	0	1	0	3	3	3	2	0	4	1	0	0	4	6	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.265G>T	p.Asp89Tyr	p.D89Y	ENST00000274793	4/12	417	320	97	248	248	0	strelka-varscan-mutect	PLA2G7,missense_variant,p.Asp89Tyr,ENST00000274793,NM_005084.3;PLA2G7,missense_variant,p.Asp89Tyr,ENST00000537365,NM_001168357.1;	A	ENST00000274793	Transcript	missense_variant	462/1882	265/1326	89/441	D/Y	Gat/Tat		1		-1	PLA2G7	HGNC	HGNC:9040	protein_coding	YES	CCDS4917.1	ENSP00000274793	Q13093		UPI000002FED1	NM_005084.3	deleterious(0)		4/12		Gene3D:3.40.50.1820,Pfam_domain:PF03403,PIRSF_domain:PIRSF018169,hmmpanther:PTHR10272,hmmpanther:PTHR10272:SF12																	MODERATE	1	SNV	1			1										PASS		rs1210877518	.												A	3	1	12	46716495	46716495	C	A	1	0	0	0	0	1	0	0	0	12105	913	32	2		2	PLA2G7	6	46716495	Missense_Mutation	SNP	C	C3L-00144_TP	3269142	46716495	124089484	651	4930											
MEP1A	0	.	GRCh38	chr6	46825466	46825466	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcagtgccattgatttaGagaggctgaaccgaatgtac	12	12	10	7	1	1	3	1	2	0	1	1	5	1	3	2	1	3	2	2	1	4	5	rs755741706		C3L-00144_TP	C3L-00144_NB	G	G																c.751G>T	p.Glu251Ter	p.E251*	ENST00000230588	8/14	243	184	59	145	144	1	strelka-varscan-mutect	MEP1A,stop_gained,p.Glu279Ter,ENST00000611727,;MEP1A,stop_gained,p.Glu251Ter,ENST00000230588,NM_005588.2;	T	ENST00000230588	Transcript	stop_gained	760/2892	751/2241	251/746	E/*	Gag/Tag	rs755741706	1		1	MEP1A	HGNC	HGNC:7015	protein_coding	YES	CCDS4918.1	ENSP00000230588	Q16819		UPI000006E4E9	NM_005588.2			8/14		Gene3D:3.40.390.10,Pfam_domain:PF01400,PIRSF_domain:PIRSF001196,Prints_domain:PR00480,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF311,Superfamily_domains:SSF55486																	HIGH	1	SNV	1			1										PASS		rs755741706	.												T	4	4	12	46825466	46825466	G	T	1	0	0	0	0	0	1	0	0	9420	943	33	2		2	MEP1A	6	46825466	Nonsense_Mutation	SNP	G	C3L-00144_TP	108971	46825466	123980513	652	4931											
CENPQ	0	.	GRCh38	chr6	49481043	49481043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaatatggaaagggcacGagacaaagctaatgaagaag	19	5	12	5	1	0	4	0	2	0	2	0	6	0	5	0	2	1	2	0	2	7	2	rs367615344		C3L-00144_TP	C3L-00144_NB	G	G																c.440G>T	p.Arg147Leu	p.R147L	ENST00000335783	6/9	284	219	65	153	153	0	strelka-varscan-mutect	CENPQ,missense_variant,p.Arg147Leu,ENST00000335783,NM_018132.3;	T	ENST00000335783	Transcript	missense_variant	534/1733	440/807	147/268	R/L	cGa/cTa	rs367615344,COSM4769356	1		1	CENPQ	HGNC	HGNC:21347	protein_coding	YES	CCDS4925.1	ENSP00000337289	Q7L2Z9		UPI000020DE7B	NM_018132.3	tolerated(0.09)		6/9		Pfam_domain:PF13094,hmmpanther:PTHR31345,hmmpanther:PTHR31345:SF3											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs367615344	.												T	3	4	12	49481043	49481043	G	T	1	0	0	0	0	1	0	0	0	2949	1058	37	1		1	CENPQ	6	49481043	Missense_Mutation	SNP	G	C3L-00144_TP	2655577	49481043	121324936	653	4932											
PGK2	0	.	GRCh38	chr6	49786360	49786360	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagtaatccttacaccAttcttttgtgctttggccat	10	15	7	9	0	1	0	0	0	1	0	2	1	2	1	3	2	2	2	3	2	4	6	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.828T>C	p.=	p.N276N	ENST00000304801	1/1	421	340	81	282	282	0	strelka-varscan-mutect	PGK2,synonymous_variant,p.=,ENST00000304801,NM_138733.4;	G	ENST00000304801	Transcript	synonymous_variant	948/1657	828/1254	276/417	N	aaT/aaC		1		-1	PGK2	HGNC	HGNC:8898	protein_coding	YES	CCDS4930.1	ENSP00000305995	P07205	A0A140VJR3	UPI0000001C72	NM_138733.4			1/1		Gene3D:3.40.50.1270,HAMAP:MF_00145,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF10,Superfamily_domains:SSF53748																	LOW	1	SNV				1										PASS		.	.												G	2	3	12	49786360	49786360	A	G	1	0	0	0	0	0	0	0	1	11880	214	8	5		5	PGK2	6	49786360	Silent	SNP	A	C3L-00144_TP	305317	49786360	121019619	654	4933											
TFAP2D	0	.	GRCh38	chr6	50745211	50745211	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaacatatggaacagaaaGaacagacagcaagaaaaaag	24	2	9	6	0	0	4	0	0	0	4	0	6	0	5	0	1	4	1	0	1	9	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.988G>T	p.Glu330Ter	p.E330*	ENST00000008391	6/8	585	555	30	358	358	0	strelka-varscan-mutect	TFAP2D,stop_gained,p.Glu330Ter,ENST00000008391,NM_172238.3;TFAP2D,non_coding_transcript_exon_variant,,ENST00000492804,;	T	ENST00000008391	Transcript	stop_gained	1216/1711	988/1359	330/452	E/*	Gaa/Taa		1		1	TFAP2D	HGNC	HGNC:15581	protein_coding	YES	CCDS4933.1	ENSP00000008391	Q7Z6R9		UPI00001A3A89	NM_172238.3			6/8		hmmpanther:PTHR10812:SF5,hmmpanther:PTHR10812,Pfam_domain:PF03299																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	50745211	50745211	G	T	1	0	0	0	0	0	1	0	0	16223	943	33	2		2	TFAP2D	6	50745211	Nonsense_Mutation	SNP	G	C3L-00144_TP	958851	50745211	120060768	655	4934											
TFAP2B	0	.	GRCh38	chr6	50838070	50838070	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaaagcagcaaatgtcaCgttactcacctccctggtgg	10	8	10	13	2	2	0	2	0	0	0	3	0	3	0	2	2	3	4	2	2	3	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.917C>G	p.Thr306Arg	p.T306R	ENST00000393655	5/7	725	511	214	428	428	0	strelka-varscan-mutect	TFAP2B,missense_variant,p.Thr306Arg,ENST00000393655,NM_003221.3;	G	ENST00000393655	Transcript	missense_variant	1086/5773	917/1383	306/460	T/R	aCg/aGg		1		1	TFAP2B	HGNC	HGNC:11743	protein_coding	YES	CCDS4934.2	ENSP00000377265	Q92481		UPI000020DE90	NM_003221.3	deleterious(0)		5/7		Pfam_domain:PF03299,Prints_domain:PR01748,hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF14																	MODERATE	1	SNV	1			1										PASS		rs1232197674	.												G	3	3	12	50838070	50838070	C	G	1	0	0	0	0	1	0	0	0	16221	536	19	4		4	TFAP2B	6	50838070	Missense_Mutation	SNP	C	C3L-00144_TP	92859	50838070	119967909	656	4935											
PKHD1	0	.	GRCh38	chr6	51748403	51748403	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaaatggtggaccacgcTggctgtgtcatcagaaccac	11	7	10	13	1	2	1	2	0	0	1	2	2	2	2	3	3	1	2	3	3	2	0	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.9213A>T	p.=	p.P3071P	ENST00000371117	58/67	238	161	77	154	154	0	strelka-varscan-mutect	PKHD1,synonymous_variant,p.=,ENST00000371117,NM_138694.3;PKHD1,synonymous_variant,p.=,ENST00000340994,NM_170724.2;	A	ENST00000371117	Transcript	synonymous_variant	9489/16282	9213/12225	3071/4074	P	ccA/ccT		1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3			58/67		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF299,Gene3D:2.160.20.10,Pfam_domain:PF13229,Superfamily_domains:SSF51126																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	51748403	51748403	T	A	1	0	0	0	0	0	0	0	1	12067	1567	55	4		4	PKHD1	6	51748403	Silent	SNP	T	C3L-00144_TP	910333	51748403	119057576	657	4936											
IL17A	0	.	GRCh38	chr6	52189247	52189247	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaagatactggtgtcCgtgggctgcacctgtgtcac	7	10	14	10	1	1	2	1	0	0	2	2	3	2	2	2	3	2	2	2	3	2	1	rs17878530		C3L-00144_TP	C3L-00144_NB	C	C																c.423C>G	p.=	p.S141S	ENST00000340057	3/3	228	175	53	136	136	0	strelka-varscan-mutect	IL17A,synonymous_variant,p.=,ENST00000340057,NM_002190.2;	G	ENST00000340057	Transcript	synonymous_variant	468/1859	423/468	141/155	S	tcC/tcG	rs17878530	1		1	IL17A	HGNC	HGNC:5981	protein_coding	YES	CCDS4937.1	ENSP00000344192	Q16552		UPI0000047D95	NM_002190.2			3/3		hmmpanther:PTHR21295:SF2,hmmpanther:PTHR21295,Pfam_domain:PF06083,Gene3D:2.10.90.10,Superfamily_domains:SSF57501,Prints_domain:PR01932																	LOW	1	SNV	1			1										PASS		rs17878530	.												G	2	3	12	52189247	52189247	C	G	1	0	0	0	0	0	0	0	1	7542	639	23	4		4	IL17A	6	52189247	Silent	SNP	C	C3L-00144_TP	440844	52189247	118616732	658	4937											
TINAG	0	.	GRCh38	chr6	54308834	54308834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaaattctgattgctGtcctgactacaagtcctttt	11	14	7	9	0	1	3	0	2	1	1	3	4	3	3	2	0	2	1	2	0	4	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.284G>T	p.Cys95Phe	p.C95F	ENST00000259782	1/11	277	183	94	159	159	0	strelka-varscan-mutect	TINAG,missense_variant,p.Cys95Phe,ENST00000259782,NM_014464.3;TINAG,missense_variant,p.Cys91Phe,ENST00000370869,;TINAG,missense_variant,p.Cys77Phe,ENST00000370864,;TINAG,non_coding_transcript_exon_variant,,ENST00000486436,;	T	ENST00000259782	Transcript	missense_variant	380/1754	284/1431	95/476	C/F	tGt/tTt		1		1	TINAG	HGNC	HGNC:14599	protein_coding	YES	CCDS4955.1	ENSP00000259782	Q9UJW2		UPI000013D078	NM_014464.3	deleterious(0)		1/11		Pfam_domain:PF01033,PROSITE_patterns:PS00524,PROSITE_profiles:PS50958,hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF274,SMART_domains:SM00201																	MODERATE	1	SNV	1			1										PASS		rs1263777188	.												T	3	4	12	54308834	54308834	G	T	1	0	0	0	0	1	0	0	0	16362	1377	48	2		2	TINAG	6	54308834	Missense_Mutation	SNP	G	C3L-00144_TP	2119587	54308834	116497145	659	4938											
FAM83B	0	.	GRCh38	chr6	54940905	54940905	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atataaaaccttgggtgtaaAtaagcagacagaaaatctaa	20	9	7	5	0	1	2	0	0	1	2	1	2	1	2	1	1	2	2	1	1	9	6	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1934A>C	p.Asn645Thr	p.N645T	ENST00000306858	5/5	145	120	25	100	100	0	strelka-varscan-mutect	FAM83B,missense_variant,p.Asn645Thr,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;	C	ENST00000306858	Transcript	missense_variant	2050/3167	1934/3036	645/1011	N/T	aAt/aCt		1		1	FAM83B	HGNC	HGNC:21357	protein_coding	YES	CCDS34479.1	ENSP00000304078	Q5T0W9		UPI00001D81EC	NM_001010872.2	tolerated(0.18)		5/5		hmmpanther:PTHR16181:SF4,hmmpanther:PTHR16181																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	54940905	54940905	A	C	1	0	0	0	0	1	0	0	0	5492	101	4	5		5	FAM83B	6	54940905	Missense_Mutation	SNP	A	C3L-00144_TP	632071	54940905	115865074	660	4939											
DST	0	.	GRCh38	chr6	56628140	56628140	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtacttcagtgatttgccAatgccctctaagtcccgtaa	10	13	7	11	1	2	1	1	1	1	0	3	1	3	1	3	0	3	2	3	0	5	6	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.3984T>A	p.=	p.I1328I	ENST00000312431	30/95	367	249	118	240	240	0	strelka-varscan-mutect	DST,synonymous_variant,p.=,ENST00000361203,;DST,synonymous_variant,p.=,ENST00000421834,NM_183380.3;DST,synonymous_variant,p.=,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,synonymous_variant,p.=,ENST00000370788,;DST,synonymous_variant,p.=,ENST00000244364,NM_015548.4;DST,synonymous_variant,p.=,ENST00000439203,;DST,synonymous_variant,p.=,ENST00000370765,NM_001723.5;DST,synonymous_variant,p.=,ENST00000520645,;DST,synonymous_variant,p.=,ENST00000518935,;DST,upstream_gene_variant,,ENST00000522360,;	T	ENST00000312431	Transcript	synonymous_variant	4110/17756	3984/16614	1328/5537	I	atT/atA		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1			30/95		hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915,Superfamily_domains:SSF46966																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	12	56628140	56628140	A	T	1	0	0	0	0	0	0	0	1	4604	126	5	4		4	DST	6	56628140	Silent	SNP	A	C3L-00144_TP	1687235	56628140	114177839	661	4940											
LGSN	0	.	GRCh38	chr6	63280565	63280565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcagttccagaagtgctgCagaacatgtttttcttccta	9	14	8	10	0	2	2	1	0	1	2	4	2	4	2	2	0	3	5	2	0	3	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.986G>A	p.Cys329Tyr	p.C329Y	ENST00000370657	4/4	233	194	39	130	130	0	strelka-varscan-mutect	LGSN,missense_variant,p.Ala189Thr,ENST00000370658,NM_001143940.1;LGSN,missense_variant,p.Cys329Tyr,ENST00000370657,NM_016571.2;LGSN,3_prime_UTR_variant,,ENST00000622415,;LGSN,intron_variant,,ENST00000485906,;	T	ENST00000370657	Transcript	missense_variant	1020/1949	986/1530	329/509	C/Y	tGc/tAc		1		-1	LGSN	HGNC	HGNC:21016	protein_coding	YES	CCDS4964.1	ENSP00000359691	Q5TDP6		UPI000013DA35	NM_016571.2	tolerated(1)		4/4		hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF7,Gene3D:3.30.590.10,Pfam_domain:PF00120,SMART_domains:SM01230,Superfamily_domains:SSF55931																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	63280565	63280565	C	T	1	0	0	0	0	1	0	0	0	8669	710	25	3		3	LGSN	6	63280565	Missense_Mutation	SNP	C	C3L-00144_TP	6652425	63280565	107525414	662	4941											
EYS	0	.	GRCh38	chr6	63984518	63984518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgaaggtctagaatgcagCccctgaacccataaacagga	14	7	9	11	0	1	3	0	2	1	1	1	4	1	4	3	2	4	1	3	2	6	3			C3L-00144_TP	C3L-00144_NB	C	C																c.6920G>T	p.Gly2307Val	p.G2307V	ENST00000370621	35/44	677	527	150	400	400	0	strelka-varscan-mutect	EYS,missense_variant,p.Gly2307Val,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Gly2307Val,ENST00000370621,NM_001292009.1;EYS,missense_variant,p.Gly79Val,ENST00000398580,;	A	ENST00000370621	Transcript	missense_variant	7447/10485	6920/9498	2307/3165	G/V	gGc/gTc	COSM5699935	1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	deleterious(0)		35/44		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,SMART_domains:SM00282,Superfamily_domains:SSF49899											1						MODERATE	1	SNV	1		1	1										PASS		rs1171456122	.												A	3	1	12	63984518	63984518	C	A	1	0	0	0	0	1	0	0	0	5200	739	26	2		2	EYS	6	63984518	Missense_Mutation	SNP	C	C3L-00144_TP	703953	63984518	106821461	663	4942											
COL9A1	0	.	GRCh38	chr6	70234841	70234841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcaccctgttctccctGcacaccccggggtccaggtg	4	8	13	16	1	1	0	0	0	1	0	3	0	2	0	5	5	1	3	5	5	0	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2212C>A	p.Gln738Lys	p.Q738K	ENST00000357250	34/38	466	304	162	429	428	1	strelka-varscan-mutect	COL9A1,missense_variant,p.Gln738Lys,ENST00000357250,NM_001851.4;COL9A1,missense_variant,p.Gln495Lys,ENST00000320755,NM_078485.3;RP1-149L1.1,intron_variant,,ENST00000522264,;COL9A1,non_coding_transcript_exon_variant,,ENST00000489611,;COL9A1,non_coding_transcript_exon_variant,,ENST00000486080,;COL9A1,non_coding_transcript_exon_variant,,ENST00000447041,;COL9A1,downstream_gene_variant,,ENST00000493682,;	T	ENST00000357250	Transcript	missense_variant	2371/4761	2212/2766	738/921	Q/K	Cag/Aag		1		-1	COL9A1	HGNC	HGNC:2217	protein_coding	YES	CCDS4971.1	ENSP00000349790	P20849		UPI000020D14B	NM_001851.4			34/38		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF523,hmmpanther:PTHR24023,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	70234841	70234841	G	T	1	0	0	0	0	1	0	0	0	3496	1328	46	2		2	COL9A1	6	70234841	Missense_Mutation	SNP	G	C3L-00144_TP	6250323	70234841	100571138	664	4943											
SNAP91	0	.	GRCh38	chr6	83594432	83594432	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggggtagctggtgcggcGgccccttcggatgctgcagg	3	9	19	10	3	0	0	0	0	0	0	1	1	0	1	2	7	4	5	2	7	1	3	rs764376228		C3L-00144_TP	C3L-00144_NB	G	G																c.1374C>T	p.=	p.A458A	ENST00000439399	17/30	190	136	54	126	125	1	strelka-varscan-mutect	SNAP91,synonymous_variant,p.=,ENST00000521485,;SNAP91,synonymous_variant,p.=,ENST00000439399,NM_014841.2;SNAP91,synonymous_variant,p.=,ENST00000369694,NM_001242792.1;SNAP91,synonymous_variant,p.=,ENST00000195649,NM_001256718.1;SNAP91,synonymous_variant,p.=,ENST00000521743,;SNAP91,synonymous_variant,p.=,ENST00000520302,NM_001256717.1,NM_001242793.1;SNAP91,intron_variant,,ENST00000520213,NM_001242794.1;SNAP91,intron_variant,,ENST00000521931,;SNAP91,intron_variant,,ENST00000369691,;SNAP91,upstream_gene_variant,,ENST00000523448,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;SNAP91,non_coding_transcript_exon_variant,,ENST00000523780,;	A	ENST00000439399	Transcript	synonymous_variant	1691/4452	1374/2724	458/907	A	gcC/gcT	rs764376228,COSM5100598,COSM5100599	1		-1	SNAP91	HGNC	HGNC:14986	protein_coding	YES	CCDS47455.1	ENSP00000400459	O60641		UPI0000124FB3	NM_014841.2			17/30		Low_complexity_(Seg):seg											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs764376228	.												A	2	1	12	83594432	83594432	G	A	1	0	0	0	0	0	0	0	1	15154	1103	39	1		1	SNAP91	6	83594432	Silent	SNP	G	C3L-00144_TP	13359591	83594432	87211547	665	4944											
ZNF292	0	.	GRCh38	chr6	87218710	87218710	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgcactattctttcccagGaaccattggataaggataaa	13	12	8	8	0	1	0	0	0	1	0	2	3	2	3	2	3	2	1	2	3	5	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.517G>T	p.Glu173Ter	p.E173*	ENST00000369577	4/8	246	172	74	277	275	2	strelka-varscan-mutect	ZNF292,stop_gained,p.Glu173Ter,ENST00000369577,NM_015021.1;ZNF292,stop_gained,p.Glu173Ter,ENST00000339907,;ZNF292,intron_variant,,ENST00000496806,;ZNF292,intron_variant,,ENST00000518845,;ZNF292,non_coding_transcript_exon_variant,,ENST00000369578,;ZNF292,non_coding_transcript_exon_variant,,ENST00000524067,;ZNF292,non_coding_transcript_exon_variant,,ENST00000485016,;	T	ENST00000369577	Transcript	stop_gained	560/10610	517/8172	173/2723	E/*	Gaa/Taa		1		1	ZNF292	HGNC	HGNC:18410	protein_coding	YES	CCDS47457.1	ENSP00000358590	O60281		UPI000020D2CC	NM_015021.1			4/8		hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	12	87218710	87218710	G	T	1	0	0	0	0	0	1	0	0	18402	1175	41	2		2	ZNF292	6	87218710	Nonsense_Mutation	SNP	G	C3L-00144_TP	3624278	87218710	83587269	666	4945											
MDN1	0	.	GRCh38	chr6	89747364	89747364	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtagccagtcatactccTtctcggtcggctcagccaat	7	11	9	14	2	3	0	2	0	1	0	6	0	4	0	3	2	3	3	3	2	3	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.3869A>G	p.Lys1290Arg	p.K1290R	ENST00000369393	27/102	122	76	46	132	132	0	strelka-varscan-mutect	MDN1,missense_variant,p.Lys1290Arg,ENST00000369393,NM_014611.2;MDN1,missense_variant,p.Lys1290Arg,ENST00000629399,;MDN1,downstream_gene_variant,,ENST00000439638,;	C	ENST00000369393	Transcript	missense_variant	3985/18413	3869/16791	1290/5596	K/R	aAg/aGg		1		-1	MDN1	HGNC	HGNC:18302	protein_coding	YES	CCDS5024.1	ENSP00000358400	Q9NU22		UPI000013C4B8	NM_014611.2	tolerated(0.07)		27/102		hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF64,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	89747364	89747364	T	C	1	0	0	0	0	1	0	0	0	9353	1609	56	5		5	MDN1	6	89747364	Missense_Mutation	SNP	T	C3L-00144_TP	2528654	89747364	81058615	667	4946											
SIM1	0	.	GRCh38	chr6	100449370	100449370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccagctacgcaccttgtagCcgccacaggtgaggccggcg	7	6	13	15	4	0	1	0	1	0	0	1	1	1	1	5	3	3	3	5	3	2	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.536G>T	p.Gly179Val	p.G179V	ENST00000369208	6/12	165	112	53	192	191	1	strelka-varscan-mutect	SIM1,missense_variant,p.Gly179Val,ENST00000369208,;SIM1,missense_variant,p.Gly179Val,ENST00000262901,NM_005068.2;	A	ENST00000369208	Transcript	missense_variant	1319/8430	536/2301	179/766	G/V	gGc/gTc		1		-1	SIM1	HGNC	HGNC:10882	protein_coding	YES	CCDS5045.1	ENSP00000358210	P81133		UPI000013D355		deleterious(0)		6/12		hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF29,Superfamily_domains:SSF55785																	MODERATE	1	SNV	1			1										PASS		rs1463030120	.												A	3	1	12	100449370	100449370	C	A	1	0	0	0	0	1	0	0	0	14586	739	26	2		2	SIM1	6	100449370	Missense_Mutation	SNP	C	C3L-00144_TP	10702006	100449370	70356609	668	4947											
GRIK2	0	.	GRCh38	chr6	101924626	101924626	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtccttatgagtggtataatCcacacccttgcaaccctgac	10	11	7	13	0	0	2	0	2	0	0	2	2	2	2	4	1	2	2	4	1	4	4			C3L-00144_TP	C3L-00144_NB	C	C																c.1774C>G	p.Pro592Ala	p.P592A	ENST00000421544	12/16	247	182	65	197	197	0	strelka-varscan-mutect	GRIK2,missense_variant,p.Pro592Ala,ENST00000369138,NM_001166247.1;GRIK2,missense_variant,p.Pro592Ala,ENST00000413795,NM_175768.3;GRIK2,missense_variant,p.Pro592Ala,ENST00000421544,NM_021956.4;GRIK2,missense_variant,p.Pro554Ala,ENST00000318991,;GRIK2,missense_variant,p.Pro554Ala,ENST00000369137,;GRIK2,missense_variant,p.Pro554Ala,ENST00000369134,;GRIK2,upstream_gene_variant,,ENST00000487395,;GRIK2,upstream_gene_variant,,ENST00000487161,;	G	ENST00000421544	Transcript	missense_variant	2264/4789	1774/2727	592/908	P/A	Cca/Gca	COSM1544821,COSM1544822,COSM5270536	1		1	GRIK2	HGNC	HGNC:4580	protein_coding	YES	CCDS5048.1	ENSP00000397026	Q13002		UPI000012B617	NM_021956.4	tolerated(0.25)		12/16		Gene3D:1.10.287.70,Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,SMART_domains:SM00079											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												G	3	3	12	101924626	101924626	C	G	1	0	0	0	0	1	0	0	0	6656	855	30	4		4	GRIK2	6	101924626	Missense_Mutation	SNP	C	C3L-00144_TP	1475256	101924626	68881353	669	4948											
AIM1	0	.	GRCh38	chr6	106539488	106539488	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgacttgtccttctgggatAcagaagaagcgtacattgga	11	11	11	8	1	1	3	0	1	1	2	2	5	2	5	1	2	3	1	1	2	4	5	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.3580A>T	p.Thr1194Ser	p.T1194S	ENST00000369066	7/20	245	160	85	180	180	0	strelka-varscan-mutect	AIM1,missense_variant,p.Thr1602Ser,ENST00000633556,;AIM1,missense_variant,p.Thr1194Ser,ENST00000369066,NM_001624.3;AIM1,upstream_gene_variant,,ENST00000457437,;	T	ENST00000369066	Transcript	missense_variant	4067/7553	3580/5172	1194/1723	T/S	Aca/Tca		1		1	AIM1	HGNC	HGNC:356	protein_coding	YES	CCDS34506.1	ENSP00000358062	Q9Y4K1		UPI000013C91D	NM_001624.3	tolerated(0.4)		7/20		PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF2,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695																	MODERATE	1	SNV	1			1										PASS		rs1321140538	.												T	3	4	12	106539488	106539488	A	T	1	0	0	0	0	1	0	0	0	507	391	14	4		4	AIM1	6	106539488	Missense_Mutation	SNP	A	C3L-00144_TP	4614862	106539488	64266491	670	4949											
FIG4	0	.	GRCh38	chr6	109776956	109776956	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattccattaatctcttcctGggagttttccatcccactga	8	15	6	12	0	1	1	0	1	1	0	6	3	5	2	4	1	0	1	4	1	1	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1785G>T	p.=	p.L595L	ENST00000230124	16/23	292	182	110	285	285	0	strelka-varscan-mutect	FIG4,synonymous_variant,p.=,ENST00000230124,NM_014845.5;FIG4,synonymous_variant,p.=,ENST00000415980,;	T	ENST00000230124	Transcript	synonymous_variant	1909/3011	1785/2724	595/907	L	ctG/ctT		1		1	FIG4	HGNC	HGNC:16873	protein_coding	YES	CCDS5078.1	ENSP00000230124	Q92562		UPI000000D9A3	NM_014845.5			16/23		hmmpanther:PTHR11200:SF9,hmmpanther:PTHR11200																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	109776956	109776956	G	T	1	0	0	0	0	0	0	0	1	5753	1335	47	2		2	FIG4	6	109776956	Silent	SNP	G	C3L-00144_TP	3237468	109776956	61029023	671	4950											
COL10A1	0	.	GRCh38	chr6	116120794	116120794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtattccaggggcacctcttGggccagcctctccattgtgt	5	12	11	13	0	2	0	0	0	2	0	4	0	3	0	5	3	1	2	5	3	1	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1322C>A	p.Pro441Gln	p.P441Q	ENST00000327673	2/2	206	135	71	182	182	0	strelka-varscan-mutect	COL10A1,missense_variant,p.Pro441Gln,ENST00000327673,;COL10A1,missense_variant,p.Pro441Gln,ENST00000243222,NM_000493.3;NT5DC1,intron_variant,,ENST00000319550,NM_152729.2;NT5DC1,intron_variant,,ENST00000419791,;COL10A1,downstream_gene_variant,,ENST00000452729,;COL10A1,downstream_gene_variant,,ENST00000418500,;NT5DC1,intron_variant,,ENST00000460749,;NT5DC1,downstream_gene_variant,,ENST00000417846,;	T	ENST00000327673	Transcript	missense_variant	1730/3498	1322/2043	441/680	P/Q	cCa/cAa		1		-1	COL10A1	HGNC	HGNC:2185	protein_coding	YES	CCDS5105.1	ENSP00000327368	Q03692		UPI0000126D28		tolerated(0.17)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF570																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	116120794	116120794	G	T	1	0	0	0	0	1	0	0	0	3454	1348	47	2		2	COL10A1	6	116120794	Missense_Mutation	SNP	G	C3L-00144_TP	6343838	116120794	54685185	672	4951											
GPRC6A	0	.	GRCh38	chr6	116809608	116809608	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagtttgaagaaaaactgaTatttcaaagctgttgggaaa	17	11	10	3	0	1	4	1	2	0	2	1	5	1	5	0	1	2	3	0	1	6	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.204A>T	p.=	p.I68I	ENST00000310357	2/6	75	53	22	90	90	0	strelka-varscan-mutect	GPRC6A,synonymous_variant,p.=,ENST00000310357,NM_148963.3;GPRC6A,synonymous_variant,p.=,ENST00000368549,NM_001286355.1;GPRC6A,synonymous_variant,p.=,ENST00000530250,NM_001286354.1;	A	ENST00000310357	Transcript	synonymous_variant	226/2860	204/2781	68/926	I	atA/atT		1		-1	GPRC6A	HGNC	HGNC:18510	protein_coding	YES	CCDS5112.1	ENSP00000309493	Q5T6X5		UPI000013EFF9	NM_148963.3			2/6		hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF5,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	116809608	116809608	T	A	1	0	0	0	0	0	0	0	1	6607	1396	49	4		4	GPRC6A	6	116809608	Silent	SNP	T	C3L-00144_TP	688814	116809608	53996371	673	4952											
TBC1D32	0	.	GRCh38	chr6	121241544	121241544	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatagccaaattttttatgCctgctgacctaacagcataa	13	12	5	11	0	0	1	0	1	0	0	0	1	0	1	4	0	5	2	4	0	5	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2166G>T	p.Arg722Ser	p.R722S	ENST00000398212	19/32	387	254	133	365	365	0	strelka-varscan-mutect	TBC1D32,missense_variant,p.Arg722Ser,ENST00000275159,;TBC1D32,missense_variant,p.Arg722Ser,ENST00000398212,NM_152730.5;TBC1D32,upstream_gene_variant,,ENST00000398197,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;	A	ENST00000398212	Transcript	missense_variant	2216/3824	2166/3774	722/1257	R/S	agG/agT		1		-1	TBC1D32	HGNC	HGNC:21485	protein_coding	YES	CCDS43501.1	ENSP00000381270	Q96NH3		UPI0000E67203	NM_152730.5	tolerated(0.05)		19/32		Pfam_domain:PF14961,hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	121241544	121241544	C	A	1	0	0	0	0	1	0	0	0	16022	738	26	2		2	TBC1D32	6	121241544	Missense_Mutation	SNP	C	C3L-00144_TP	4431936	121241544	49564435	674	4953											
CLVS2	0	.	GRCh38	chr6	123055817	123055817	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttatagatatttttgcaTggtaacaacctgaacagtct	13	15	6	7	0	1	2	0	1	1	1	1	2	1	2	1	1	4	2	1	1	6	7	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.687T>C	p.=	p.H229H	ENST00000275162	5/6	179	115	64	158	158	0	strelka-varscan-mutect	CLVS2,synonymous_variant,p.=,ENST00000275162,NM_001010852.3;CLVS2,synonymous_variant,p.=,ENST00000368438,;	C	ENST00000275162	Transcript	synonymous_variant	2022/11485	687/984	229/327	H	caT/caC		1		1	CLVS2	HGNC	HGNC:23046	protein_coding	YES	CCDS34525.1	ENSP00000275162	Q5SYC1		UPI000013DA49	NM_001010852.3			5/6		PROSITE_profiles:PS50191,hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF73,Pfam_domain:PF00650,Gene3D:3.40.525.10,SMART_domains:SM00516,Superfamily_domains:SSF52087,Prints_domain:PR00180																	LOW	1	SNV	1			1										PASS		rs1267913426	.												C	2	2	12	123055817	123055817	T	C	1	0	0	0	0	0	0	0	1	3345	1461	51	5		5	CLVS2	6	123055817	Silent	SNP	T	C3L-00144_TP	1814273	123055817	47750162	675	4954											
HDDC2	0	.	GRCh38	chr6	125292862	125292862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaagttcatagagctcCtttctgaggtcctctggtag	8	13	9	11	0	3	2	1	1	2	1	6	2	6	2	3	2	1	3	3	2	3	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.357G>T	p.Lys119Asn	p.K119N	ENST00000398153	4/6	307	208	99	243	243	0	strelka-varscan-mutect	HDDC2,missense_variant,p.Lys119Asn,ENST00000398153,NM_016063.2;HDDC2,intron_variant,,ENST00000608295,;HDDC2,downstream_gene_variant,,ENST00000608284,;HDDC2,3_prime_UTR_variant,,ENST00000318787,;HDDC2,3_prime_UTR_variant,,ENST00000609477,;HDDC2,non_coding_transcript_exon_variant,,ENST00000608461,;HDDC2,non_coding_transcript_exon_variant,,ENST00000608532,;	A	ENST00000398153	Transcript	missense_variant	400/918	357/615	119/204	K/N	aaG/aaT		1		-1	HDDC2	HGNC	HGNC:21078	protein_coding	YES	CCDS43503.1	ENSP00000381220	Q7Z4H3	A0A140VJK7	UPI0000070B81	NM_016063.2	tolerated(0.08)		4/6		Gene3D:1.10.3210.10,Pfam_domain:PF13023,hmmpanther:PTHR11845,SMART_domains:SM00471,Superfamily_domains:SSF109604																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	125292862	125292862	C	A	1	0	0	0	0	1	0	0	0	6903	680	24	2		2	HDDC2	6	125292862	Missense_Mutation	SNP	C	C3L-00144_TP	2237045	125292862	45513117	676	4955											
HEY2	0	.	GRCh38	chr6	125754537	125754537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgcttcaggcaacaGggggtaaaggtaagtagatg	14	8	15	4	0	1	3	1	1	0	2	1	3	1	3	0	4	2	5	0	4	6	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.319G>A	p.Gly107Arg	p.G107R	ENST00000368364	4/5	116	78	38	85	85	0	strelka-varscan-mutect	HEY2,missense_variant,p.Gly107Arg,ENST00000368364,NM_012259.2;HEY2,missense_variant,p.Gly61Arg,ENST00000368365,;	A	ENST00000368364	Transcript	missense_variant	516/2678	319/1014	107/337	G/R	Ggg/Agg		1		1	HEY2	HGNC	HGNC:4881	protein_coding	YES	CCDS5131.1	ENSP00000357348	Q9UBP5		UPI0000037AFE	NM_012259.2	deleterious(0)		4/5		hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF88,SMART_domains:SM00353																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	125754537	125754537	G	A	1	0	0	0	0	1	0	0	0	6963	1000	35	3		3	HEY2	6	125754537	Missense_Mutation	SNP	G	C3L-00144_TP	461675	125754537	45051442	677	4956											
GRM1	0	.	GRCh38	chr6	146399564	146399564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatcattattgccaagcCtgagaggaatgtccgcagtg	11	10	11	9	1	1	1	1	1	0	1	2	3	2	2	3	1	3	2	3	1	4	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2525C>T	p.Pro842Leu	p.P842L	ENST00000361719	8/9	177	120	57	201	201	0	strelka-varscan-mutect	GRM1,missense_variant,p.Pro842Leu,ENST00000492807,NM_001278065.1,NM_001278066.1;GRM1,missense_variant,p.Pro842Leu,ENST00000361719,;GRM1,missense_variant,p.Pro842Leu,ENST00000282753,NM_001278064.1;GRM1,missense_variant,p.Pro842Leu,ENST00000355289,NM_001278067.1;GRM1,missense_variant,p.Pro842Leu,ENST00000507907,;	T	ENST00000361719	Transcript	missense_variant	2892/6754	2525/3585	842/1194	P/L	cCt/cTt		1		1	GRM1	HGNC	HGNC:4593	protein_coding	YES	CCDS5209.1	ENSP00000354896	Q13255		UPI000013DCFD		deleterious(0)		8/9		PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF29																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	146399564	146399564	C	T	1	0	0	0	0	1	0	0	0	6678	681	24	3		3	GRM1	6	146399564	Missense_Mutation	SNP	C	C3L-00144_TP	20645027	146399564	24406415	678	4957											
STXBP5	0	.	GRCh38	chr6	147267168	147267168	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagatacacatatgatgagGtaatattatttttgctagta	15	15	7	4	0	0	3	0	2	0	1	0	3	0	3	0	1	2	3	0	1	7	9	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.714+1G>C		p.X238_splice	ENST00000321680		159	110	49	136	136	0	strelka-varscan-mutect	STXBP5,splice_donor_variant,,ENST00000367481,NM_139244.4;STXBP5,splice_donor_variant,,ENST00000321680,NM_001127715.2;STXBP5,splice_donor_variant,,ENST00000367480,;STXBP5,splice_donor_variant,,ENST00000546097,;	C	ENST00000321680	Transcript	splice_donor_variant	-/3456	714/3456	238/1151				1		1	STXBP5	HGNC	HGNC:19665	protein_coding	YES	CCDS47499.1	ENSP00000321826	Q5T5C0		UPI0000199FE0	NM_001127715.2				7/27																		HIGH	1	SNV	5			1										PASS		.	.												C	5	2	12	147267168	147267168	G	C	1	0	0	0	0	0	0	1	0	15740	1275	44	4		4	STXBP5	6	147267168	Splice_Site	SNP	G	C3L-00144_TP	867604	147267168	23538811	679	4958											
IGF2R	0	.	GRCh38	chr6	160071908	160071908	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctgtctgtgctttgttgtAgaactccaggcccatgttca	7	14	9	11	0	2	1	1	0	1	1	3	1	3	1	3	1	2	4	3	1	2	4	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.4444-2A>G		p.X1482_splice	ENST00000356956		140	88	52	127	127	0	strelka-varscan-mutect	IGF2R,splice_acceptor_variant,,ENST00000356956,NM_000876.2;IGF2R,upstream_gene_variant,,ENST00000487607,;	G	ENST00000356956	Transcript	splice_acceptor_variant	-/14044	4444/7476	1482/2491				1		1	IGF2R	HGNC	HGNC:5467	protein_coding	YES	CCDS5273.1	ENSP00000349437	P11717		UPI0000072478	NM_000876.2				31/47																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	12	160071908	160071908	A	G	1	0	0	0	0	0	0	1	0	7482	434	15	5		5	IGF2R	6	160071908	Splice_Site	SNP	A	C3L-00144_TP	12804740	160071908	10734071	680	4959											
C6orf118	0	.	GRCh38	chr6	165298074	165298074	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtcttcaccggcctctgccCcagcgccttgagttgagcca	5	9	10	17	3	3	2	1	2	2	0	3	2	3	2	6	1	3	1	6	1	0	3			C3L-00144_TP	C3L-00144_NB	C	C																c.964G>C	p.Gly322Arg	p.G322R	ENST00000230301	5/9	95	89	6	75	75	0	strelka-varscan-mutect	C6orf118,missense_variant,p.Gly322Arg,ENST00000230301,NM_144980.3;C6orf118,upstream_gene_variant,,ENST00000494696,;	G	ENST00000230301	Transcript	missense_variant	985/1812	964/1410	322/469	G/R	Ggg/Cgg	COSM319109	1		-1	C6orf118	HGNC	HGNC:21233	protein_coding	YES	CCDS5288.1	ENSP00000230301	Q5T5N4		UPI0000367401	NM_144980.3	tolerated(0.09)		5/9		hmmpanther:PTHR34916,Pfam_domain:PF15739											1						MODERATE	1	SNV	1		1	1										PASS		rs1199314816	.												G	3	3	12	165298074	165298074	C	G	1	0	0	0	0	1	0	0	0	2115	623	22	4		4	C6orf118	6	165298074	Missense_Mutation	SNP	C	C3L-00144_TP	5226166	165298074	5507905	681	4960											
PDE10A	0	.	GRCh38	chr6	165418763	165418763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caacgatcggcattcaccagGttttttgcatatatctaaag	12	13	7	9	2	2	0	1	0	1	0	3	1	2	0	1	2	2	3	1	2	5	7	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.870C>A	p.Asn290Lys	p.N290K	ENST00000539869	11/22	357	251	106	346	343	3	strelka-varscan-mutect	PDE10A,missense_variant,p.Asn280Lys,ENST00000366882,NM_006661.3;PDE10A,missense_variant,p.Asn290Lys,ENST00000539869,NM_001130690.2;	T	ENST00000539869	Transcript	missense_variant	926/4401	870/2370	290/789	N/K	aaC/aaA		1		-1	PDE10A	HGNC	HGNC:8772	protein_coding	YES	CCDS47513.1	ENSP00000438284	Q9Y233		UPI000006F80E	NM_001130690.2	tolerated(0.95)		11/22		Gene3D:3.30.450.40,Pfam_domain:PF01590,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF111,SMART_domains:SM00065,Superfamily_domains:SSF55781																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	165418763	165418763	G	T	1	0	0	0	0	1	0	0	0	11718	1252	44	2		2	PDE10A	6	165418763	Missense_Mutation	SNP	G	C3L-00144_TP	120689	165418763	5387216	682	4961											
PRR18	0	.	GRCh38	chr6	166307654	166307654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggccgagggtgaggggaaGggcctgcggggccgcgccag	5	3	22	11	5	0	1	0	1	0	0	1	3	0	2	4	7	1	0	4	7	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.489C>T	p.=	p.P163P	ENST00000322583	1/1	50	32	18	63	63	0	strelka-varscan-mutect	PRR18,synonymous_variant,p.=,ENST00000322583,NM_175922.3;PRR18,downstream_gene_variant,,ENST00000529616,;	A	ENST00000322583	Transcript	synonymous_variant	730/3084	489/888	163/295	P	ccC/ccT		1		-1	PRR18	HGNC	HGNC:28574	protein_coding	YES	CCDS5291.1	ENSP00000319590	Q8N4B5		UPI0000140E82	NM_175922.3			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR10994,Pfam_domain:PF15671																	LOW	1	SNV				1										PASS		rs1055125661	.												A	2	1	12	166307654	166307654	G	A	1	0	0	0	0	0	0	0	1	12726	987	35	3		3	PRR18	6	166307654	Silent	SNP	G	C3L-00144_TP	888891	166307654	4498325	683	4962											
FGFR1OP	0	.	GRCh38	chr6	167024785	167024785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttgtttcttgttaggagGaaggaacctaggaagcaagc	11	11	12	7	0	1	0	0	0	1	0	2	4	2	4	2	4	3	3	2	4	6	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.810G>T	p.Arg270Ser	p.R270S	ENST00000366847	9/13	162	110	52	129	128	1	strelka-varscan-mutect	FGFR1OP,missense_variant,p.Arg270Ser,ENST00000366847,NM_007045.3;FGFR1OP,missense_variant,p.Arg223Ser,ENST00000622353,NM_001278690.1;FGFR1OP,missense_variant,p.Arg250Ser,ENST00000349556,NM_194429.2;FGFR1OP,non_coding_transcript_exon_variant,,ENST00000496181,;FGFR1OP,upstream_gene_variant,,ENST00000488525,;RP11-517H2.6,splice_region_variant,,ENST00000609590,;	T	ENST00000366847	Transcript	missense_variant	1041/14166	810/1200	270/399	R/S	agG/agT		1		1	FGFR1OP	HGNC	HGNC:17012	protein_coding	YES	CCDS5296.1	ENSP00000355812	O95684		UPI0000071446	NM_007045.3	deleterious(0.05)		9/13		hmmpanther:PTHR15431																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	167024785	167024785	G	T	1	0	0	0	0	1	0	0	0	5728	1188	41	2		2	FGFR1OP	6	167024785	Missense_Mutation	SNP	G	C3L-00144_TP	717131	167024785	3781194	684	4963											
TNRC18	0	.	GRCh38	chr7	5389227	5389227	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaccgtcccgcgacgaCgagcctttggccggggcgcc	4	5	16	16	7	0	0	0	0	0	0	1	4	1	1	5	4	1	1	5	4	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.597G>T	p.=	p.S199S	ENST00000430969	5/30	71	51	20	34	34	0	strelka-varscan-mutect	TNRC18,synonymous_variant,p.=,ENST00000399537,;TNRC18,synonymous_variant,p.=,ENST00000430969,NM_001080495.2;TNRC18,downstream_gene_variant,,ENST00000399434,;TNRC18,upstream_gene_variant,,ENST00000413081,;TNRC18,downstream_gene_variant,,ENST00000434361,;	A	ENST00000430969	Transcript	synonymous_variant	946/10562	597/8907	199/2968	S	tcG/tcT		1		-1	TNRC18	HGNC	HGNC:11962	protein_coding	YES	CCDS47534.1	ENSP00000395538	O15417		UPI00016632FD	NM_001080495.2			5/30																			LOW	1	SNV	5			1										PASS		rs1327774698	.												A	2	1	12	5389227	5389227	C	A	1	0	0	0	0	0	0	0	1	16812	523	19	1		1	TNRC18	7	5389227	Silent	SNP	C	C3L-00144_TP		5389227	153956746	685	4964											
THSD7A	0	.	GRCh38	chr7	11590520	11590520	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcgttggcctgcacgcagtAcacctctcgggtctggatgc	5	11	12	13	3	2	0	0	0	2	0	4	1	2	1	2	3	3	4	2	3	1	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1393T>C	p.Tyr465His	p.Y465H	ENST00000423059	4/28	309	242	67	180	180	0	strelka-varscan-mutect	THSD7A,missense_variant,p.Tyr465His,ENST00000423059,NM_015204.2;THSD7A,missense_variant,p.Tyr465His,ENST00000617773,;	G	ENST00000423059	Transcript	missense_variant	1645/10663	1393/4974	465/1657	Y/H	Tac/Cac		1		-1	THSD7A	HGNC	HGNC:22207	protein_coding	YES	CCDS47543.1	ENSP00000406482	Q9UPZ6		UPI00006C0B74	NM_015204.2	deleterious(0.01)		4/28		PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	12	11590520	11590520	A	G	1	0	0	0	0	1	0	0	0	16313	391	14	5		5	THSD7A	7	11590520	Missense_Mutation	SNP	A	C3L-00144_TP	6201293	11590520	147755453	686	4965											
VWDE	0	.	GRCh38	chr7	12367409	12367409	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtaattctttgaagcctttgCcaaaaactctcaccatcata	13	13	4	11	0	3	1	2	1	2	0	4	1	3	1	3	0	3	1	3	0	5	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2846G>T	p.Gly949Val	p.G949V	ENST00000275358	13/29	148	116	32	108	108	0	strelka-varscan-mutect	VWDE,missense_variant,p.Gly949Val,ENST00000275358,NM_001135924.1;VWDE,missense_variant,p.Gly403Val,ENST00000614403,;VWDE,missense_variant,p.Gly949Val,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;	A	ENST00000275358	Transcript	missense_variant	3035/5260	2846/4773	949/1590	G/V	gGc/gTc		1		-1	VWDE	HGNC	HGNC:21897	protein_coding	YES	CCDS47544.1	ENSP00000275358	Q8N2E2		UPI00006C0B98	NM_001135924.1	deleterious(0)		13/29																			MODERATE	1	SNV	5			1										PASS		rs1286488448	.												A	3	1	12	12367409	12367409	C	A	1	0	0	0	0	1	0	0	0	17805	739	26	2		2	VWDE	7	12367409	Missense_Mutation	SNP	C	C3L-00144_TP	776889	12367409	146978564	687	4966											
SNX13	0	.	GRCh38	chr7	17845633	17845633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacattgtctacaagaatgCtgtccagggggactgtgcaa	12	9	11	9	0	1	1	0	0	1	1	2	2	2	2	1	2	4	2	1	2	5	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1127G>A	p.Ser376Asn	p.S376N	ENST00000428135	12/26	161	133	28	84	84	0	strelka-varscan-mutect	SNX13,missense_variant,p.Ser376Asn,ENST00000611725,;SNX13,missense_variant,p.Ser376Asn,ENST00000428135,NM_015132.4;SNX13,3_prime_UTR_variant,,ENST00000409076,;SNX13,3_prime_UTR_variant,,ENST00000444712,;	T	ENST00000428135	Transcript	missense_variant	1326/6357	1127/2874	376/957	S/N	aGc/aAc		1		-1	SNX13	HGNC	HGNC:21335	protein_coding	YES	CCDS47551.1	ENSP00000398789	Q9Y5W8	A0A024R9Z9	UPI000002B3E8	NM_015132.4	tolerated(0.47)		12/26		Pfam_domain:PF00615,PROSITE_profiles:PS50132,hmmpanther:PTHR22775,SMART_domains:SM00315,Superfamily_domains:SSF48097																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	17845633	17845633	C	T	1	0	0	0	0	1	0	0	0	15205	797	28	3		3	SNX13	7	17845633	Missense_Mutation	SNP	C	C3L-00144_TP	5478224	17845633	141500340	688	4967											
HDAC9	0	.	GRCh38	chr7	18647971	18647971	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttattattgaaagaacaaAtgcgacagcaaaagcttctt	17	12	6	6	1	1	2	0	1	1	1	1	3	1	2	0	0	4	2	0	0	7	6	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1222A>T	p.Met408Leu	p.M408L	ENST00000441542	9/25	206	149	57	138	138	0	strelka-varscan-mutect	HDAC9,missense_variant,p.Met405Leu,ENST00000406451,NM_001321897.1,NM_178423.1;HDAC9,missense_variant,p.Met364Leu,ENST00000622668,NM_001321879.1,NM_001321885.1,NM_001321893.1,NM_001321891.1,NM_001321894.1,NM_001204146.1;HDAC9,missense_variant,p.Met405Leu,ENST00000405010,NM_001321869.1,NM_001321870.1,NM_001321874.1,NM_001321875.1,NM_001321884.1,NM_001321886.1,NM_001321887.1,NM_001321890.1,NM_001321899.1,NM_001321900.1,NM_001321901.1,NM_001321902.1,NM_014707.1;HDAC9,missense_variant,p.Met392Leu,ENST00000406072,NM_001321871.1,NM_001321872.1,NM_001321873.1,NM_001321888.1,NM_001321895.1,NM_001321898.1;HDAC9,missense_variant,p.Met364Leu,ENST00000401921,;HDAC9,missense_variant,p.Met408Leu,ENST00000441542,NM_178425.2;HDAC9,missense_variant,p.Met405Leu,ENST00000432645,NM_058176.2;HDAC9,missense_variant,p.Met403Leu,ENST00000417496,NM_001204144.1;HDAC9,missense_variant,p.Met361Leu,ENST00000428307,NM_001204145.1;HDAC9,missense_variant,p.Met377Leu,ENST00000456174,NM_001204148.1;HDAC9,missense_variant,p.Met328Leu,ENST00000524023,NM_001204147.1;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;	T	ENST00000441542	Transcript	missense_variant	1222/3210	1222/3210	408/1069	M/L	Atg/Ttg		1		1	HDAC9	HGNC	HGNC:14065	protein_coding	YES	CCDS47553.1	ENSP00000408617	Q9UKV0		UPI000019AB75	NM_178425.2	tolerated(0.47)		9/25		PIRSF_domain:PIRSF037911																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	18647971	18647971	A	T	1	0	0	0	0	1	0	0	0	6901	101	4	4		4	HDAC9	7	18647971	Missense_Mutation	SNP	A	C3L-00144_TP	802338	18647971	140698002	689	4968											
DNAH11	0	.	GRCh38	chr7	21900007	21900007	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagacgatggctcgaaaaaAtgagtggcccctggataaaa	15	6	12	8	2	0	2	0	1	0	1	1	5	0	3	2	3	0	2	2	3	5	1	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.13190A>C	p.Asn4397Thr	p.N4397T	ENST00000409508	81/82	157	121	36	82	82	0	strelka-varscan-mutect	DNAH11,missense_variant,p.Asn4397Thr,ENST00000409508,NM_001277115.1;DNAH11,missense_variant,p.Asn4404Thr,ENST00000328843,;DNAH11,missense_variant,p.Asn4404Thr,ENST00000620169,;CDCA7L,downstream_gene_variant,,ENST00000406877,NM_018719.4;CDCA7L,downstream_gene_variant,,ENST00000356195,NM_001127370.2;CDCA7L,downstream_gene_variant,,ENST00000373934,NM_001127371.2;CDCA7L,downstream_gene_variant,,ENST00000435717,;CDCA7L,downstream_gene_variant,,ENST00000465490,;DNAH11,non_coding_transcript_exon_variant,,ENST00000479878,;CDCA7L,downstream_gene_variant,,ENST00000488845,;CDCA7L,downstream_gene_variant,,ENST00000489669,;	C	ENST00000409508	Transcript	missense_variant	13221/14167	13190/13551	4397/4516	N/T	aAt/aCt		1		1	DNAH11	HGNC	HGNC:2942	protein_coding	YES	CCDS64602.1	ENSP00000475939	Q96DT5		UPI0002B8CE70	NM_001277115.1	deleterious(0)		81/82		hmmpanther:PTHR10676:SF263,hmmpanther:PTHR10676,Pfam_domain:PF03028																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	12	21900007	21900007	A	C	1	0	0	0	0	1	0	0	0	4413	101	4	5		5	DNAH11	7	21900007	Missense_Mutation	SNP	A	C3L-00144_TP	3252036	21900007	137445966	690	4969											
HOXA6	0	.	GRCh38	chr7	27147361	27147361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccgggctcgtgtacttcCggtcggcgccttcgtcatgg	5	10	13	13	6	1	0	1	0	0	0	5	0	2	0	3	4	2	2	3	4	2	3	rs756210185		C3L-00144_TP	C3L-00144_NB	C	C																c.389G>T	p.Arg130Leu	p.R130L	ENST00000222728	1/2	240	158	82	149	149	0	strelka-varscan-mutect	HOXA6,missense_variant,p.Arg130Leu,ENST00000222728,NM_024014.3;HOXA5,upstream_gene_variant,,ENST00000222726,NM_019102.3;HOXA-AS3,non_coding_transcript_exon_variant,,ENST00000518947,;HOXA-AS3,intron_variant,,ENST00000521197,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS3,upstream_gene_variant,,ENST00000524304,;HOXA-AS3,upstream_gene_variant,,ENST00000521231,;HOXA6,non_coding_transcript_exon_variant,,ENST00000521478,;RP1-170O19.22,intron_variant,,ENST00000467897,;HOXA3,intron_variant,,ENST00000518451,;RP1-170O19.23,downstream_gene_variant,,ENST00000498652,;HOXA5,upstream_gene_variant,,ENST00000520854,;	A	ENST00000222728	Transcript	missense_variant	414/989	389/702	130/233	R/L	cGg/cTg	rs756210185	1		-1	HOXA6	HGNC	HGNC:5107	protein_coding	YES	CCDS5407.1	ENSP00000222728	P31267		UPI000012CF32	NM_024014.3	tolerated(0.07)		1/2		hmmpanther:PTHR24326:SF223,hmmpanther:PTHR24326																	MODERATE	1	SNV	1			1										PASS		rs756210185	.												A	3	1	12	27147361	27147361	C	A	1	0	0	0	0	1	0	0	0	7190	652	23	1		1	HOXA6	7	27147361	Missense_Mutation	SNP	C	C3L-00144_TP	5247354	27147361	132198612	691	4970											
HOXA11	0	.	GRCh38	chr7	27184586	27184586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccgaacttgaagttgccgGcgcgcccgttgcagccgccg	5	7	14	15	7	0	1	0	1	0	0	1	2	1	1	5	1	4	3	5	1	2	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.559C>A	p.Pro187Thr	p.P187T	ENST00000006015	1/2	303	277	26	242	241	1	strelka-varscan-mutect	HOXA11,missense_variant,p.Pro187Thr,ENST00000006015,NM_005523.5;HOXA11,missense_variant,p.Pro157Thr,ENST00000517402,;HOXA10,upstream_gene_variant,,ENST00000396344,;HOXA10-HOXA9,upstream_gene_variant,,ENST00000470747,;RP1-170O19.14,downstream_gene_variant,,ENST00000523331,;HOXA11-AS,non_coding_transcript_exon_variant,,ENST00000520360,;HOXA11-AS,upstream_gene_variant,,ENST00000522863,;HOXA11-AS,upstream_gene_variant,,ENST00000522674,;HOXA11-AS,upstream_gene_variant,,ENST00000520395,;HOXA11-AS,upstream_gene_variant,,ENST00000479766,;HOXA11-AS1_4,upstream_gene_variant,,ENST00000620901,;HOXA11-AS1_5,upstream_gene_variant,,ENST00000620211,;HOXA11-AS1_2,upstream_gene_variant,,ENST00000615604,;HOXA11-AS1_6,upstream_gene_variant,,ENST00000620092,;HOXA11-AS1_3,upstream_gene_variant,,ENST00000613383,;HOXA11-AS1_1,upstream_gene_variant,,ENST00000613939,;	T	ENST00000006015	Transcript	missense_variant	631/2295	559/942	187/313	P/T	Ccg/Acg		1		-1	HOXA11	HGNC	HGNC:5101	protein_coding	YES	CCDS5411.1	ENSP00000006015	P31270		UPI000000D992	NM_005523.5	deleterious(0.03)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF50																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	27184586	27184586	G	T	1	0	0	0	0	1	0	0	0	7184	1203	42	2		2	HOXA11	7	27184586	Missense_Mutation	SNP	G	C3L-00144_TP	37225	27184586	132161387	692	4971											
HIBADH	0	.	GRCh38	chr7	27632446	27632446	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctggggaagatactacCtttaaaaaaaattgcaaagg	16	10	9	6	0	1	1	0	0	1	1	1	2	1	2	1	3	4	2	1	3	8	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.253-1G>T		p.X85_splice	ENST00000265395		263	173	90	172	171	1	strelka-varscan-mutect	HIBADH,splice_acceptor_variant,,ENST00000265395,NM_152740.3;HIBADH,splice_region_variant,,ENST00000425715,;HIBADH,splice_acceptor_variant,,ENST00000428288,;	A	ENST00000265395	Transcript	splice_acceptor_variant	-/1990	253/1011	85/336				1		-1	HIBADH	HGNC	HGNC:4907	protein_coding	YES	CCDS5414.1	ENSP00000265395	P31937	A0A024RA75	UPI000000160A	NM_152740.3				2/7																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	12	27632446	27632446	C	A	1	0	0	0	0	0	0	1	0	6983	695	24	2		2	HIBADH	7	27632446	Splice_Site	SNP	C	C3L-00144_TP	447860	27632446	131713527	693	4972											
CHN2	0	.	GRCh38	chr7	29512642	29512642	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcccactctgatgaggccCcctgaggacagcaccctgac	8	5	12	16	0	1	4	0	4	1	0	1	5	1	5	4	3	1	1	4	3	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1314C>A	p.=	p.P438P	ENST00000222792	13/13	420	307	113	253	253	0	strelka-varscan-mutect	CHN2,splice_region_variant,,ENST00000495789,;CHN2,synonymous_variant,p.=,ENST00000222792,NM_004067.3,NM_001293071.1,NM_001293070.1,NM_001293072.1;CHN2,synonymous_variant,p.=,ENST00000412711,NM_001039936.2,NM_001293073.1,NM_001293075.1,NM_001293080.1;CHN2,synonymous_variant,p.=,ENST00000435288,;CHN2,synonymous_variant,p.=,ENST00000409041,NM_001293077.1;CHN2,synonymous_variant,p.=,ENST00000424025,NM_001293078.1;CHN2,synonymous_variant,p.=,ENST00000421775,NM_001293076.1;CHN2,synonymous_variant,p.=,ENST00000539389,;CHN2,synonymous_variant,p.=,ENST00000539406,;CHN2,3_prime_UTR_variant,,ENST00000439711,NM_001293079.1;CHN2,downstream_gene_variant,,ENST00000433720,;AC007255.8,downstream_gene_variant,,ENST00000450540,;AC007255.8,downstream_gene_variant,,ENST00000447171,;CHN2,non_coding_transcript_exon_variant,,ENST00000410098,;	A	ENST00000222792	Transcript	synonymous_variant	1844/3530	1314/1407	438/468	P	ccC/ccA		1		1	CHN2	HGNC	HGNC:1944	protein_coding	YES	CCDS5420.1	ENSP00000222792	P52757		UPI000012781F	NM_004067.3,NM_001293071.1,NM_001293070.1,NM_001293072.1			13/13		PROSITE_profiles:PS50238,hmmpanther:PTHR23176,hmmpanther:PTHR23176:SF35,Pfam_domain:PF00620,PIRSF_domain:PIRSF038015,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	29512642	29512642	C	A	1	0	0	0	0	0	0	0	1	3123	637	22	2		2	CHN2	7	29512642	Silent	SNP	C	C3L-00144_TP	1880196	29512642	129833331	694	4973											
PRR15	0	.	GRCh38	chr7	29566584	29566584	+	Missense_Mutation	SNP	C	C	A																															ggggacaaatccggcagcagCcgccgcaatttgaagatctc																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.255C>A	p.Ser85Arg	p.S85R	ENST00000319694	2/2	352	275	77	195	195	0	strelka-varscan-mutect	PRR15,missense_variant,p.Ser85Arg,ENST00000319694,NM_175887.2;PRR15,downstream_gene_variant,,ENST00000450427,;AC007255.8,upstream_gene_variant,,ENST00000450540,;AC007255.8,upstream_gene_variant,,ENST00000447171,;	A	ENST00000319694	Transcript	missense_variant	967/1678	255/390	85/129	S/R	agC/agA		1		1	PRR15	HGNC	HGNC:22310	protein_coding	YES	CCDS5421.1	ENSP00000317836	Q8IV56	A4D1A1	UPI0000074699	NM_175887.2	deleterious(0.01)		2/2		hmmpanther:PTHR14581:SF4,hmmpanther:PTHR14581,Pfam_domain:PF15321																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	29566584	29566584	C	A	1	0	0	0	0	1	0	0	0	12723	738	26	2		2	PRR15	7	29566584	Missense_Mutation	SNP	C	C3L-00144_TP	53942	29566584	129779389	695	4974	115	2									
PRR15	0	.	GRCh38	chr7	29566585	29566585	+	Missense_Mutation	SNP	C	C	A																															gggacaaatccggcagcagcCgccgcaatttgaagatctcg																										C3L-00144_TP	C3L-00144_NB	C	C																c.256C>A	p.Arg86Ser	p.R86S	ENST00000319694	2/2	356	279	77	200	200	0	strelka-varscan-mutect	PRR15,missense_variant,p.Arg86Ser,ENST00000319694,NM_175887.2;PRR15,downstream_gene_variant,,ENST00000450427,;AC007255.8,upstream_gene_variant,,ENST00000450540,;AC007255.8,upstream_gene_variant,,ENST00000447171,;	A	ENST00000319694	Transcript	missense_variant	968/1678	256/390	86/129	R/S	Cgc/Agc	COSM4646290	1		1	PRR15	HGNC	HGNC:22310	protein_coding	YES	CCDS5421.1	ENSP00000317836	Q8IV56	A4D1A1	UPI0000074699	NM_175887.2	tolerated(0.06)		2/2		hmmpanther:PTHR14581:SF4,hmmpanther:PTHR14581,Pfam_domain:PF15321											1						MODERATE	1	SNV	1		1	1										PASS		rs1351425271	.												A	3	1	12	29566585	29566585	C	A	1	0	0	0	0	1	0	0	0	12723	652	23	1		1	PRR15	7	29566585	Missense_Mutation	SNP	C	C3L-00144_TP	1	29566585	129779388	696	4975	115	2									
GARS	0	.	GRCh38	chr7	30632247	30632247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttgtttattttggatagCggaagccctgaccaggcatg	9	13	11	8	1	0	1	0	1	0	0	0	3	0	3	2	3	2	2	2	3	3	6	rs201358272		C3L-00144_TP	C3L-00144_NB	C	C																c.1904C>T	p.Ser635Leu	p.S635L	ENST00000389266	16/17	574	450	124	349	348	1	strelka-varscan-mutect	GARS,missense_variant,p.Ser635Leu,ENST00000389266,NM_001316772.1,NM_002047.2;GARS,splice_region_variant,,ENST00000485784,;GARS,splice_region_variant,,ENST00000444666,;GARS,splice_region_variant,,ENST00000465748,;GARS,non_coding_transcript_exon_variant,,ENST00000496643,;GARS,downstream_gene_variant,,ENST00000470392,;	T	ENST00000389266	Transcript	missense_variant,splice_region_variant	2145/2634	1904/2220	635/739	S/L	tCg/tTg	rs201358272,CM065213,IPNMDB_828,COSM1089085	1		1	GARS	HGNC	HGNC:4162	protein_coding	YES	CCDS43564.1	ENSP00000373918	P41250		UPI00005A885C	NM_001316772.1,NM_002047.2	deleterious(0)		16/17		Gene3D:3.40.50.800,Pfam_domain:PF03129,hmmpanther:PTHR10745,hmmpanther:PTHR10745:SF0,Superfamily_domains:SSF52954,TIGRFAM_domain:TIGR00389										pathogenic	0,0,0,1						MODERATE	1	SNV	1		1,1,0,1	1										PASS		rs201358272	.												T	3	4	12	30632247	30632247	C	T	1	0	0	0	0	1	0	0	0	6112	782	27	1		1	GARS	7	30632247	Missense_Mutation	SNP	C	C3L-00144_TP	1065662	30632247	128713726	697	4976											
BMPER	0	.	GRCh38	chr7	34079126	34079127	+	Frame_Shift_Del	DEL	CG	CG	-																															cgcgcatcgcgctcccctgcCgcgcgccacacttccacatc																								novel		C3L-00144_TP	C3L-00144_NB	CG	CG																c.1353_1354delGC	p.Pro452ThrfsTer52	p.P452Tfs*52	ENST00000297161	13/16	213	142	71	146	146	0	sindel-varindel-pindel	BMPER,frameshift_variant,p.Pro452ThrfsTer52,ENST00000297161,NM_133468.4;BMPER,intron_variant,,ENST00000476525,;	-	ENST00000297161	Transcript	frameshift_variant	1722-1723/5031	1348-1349/2058	450/685	R/X	CGc/c		1		1	BMPER	HGNC	HGNC:24154	protein_coding	YES	CCDS5442.1	ENSP00000297161	Q8N8U9	A0A090N7U6	UPI000006D462	NM_133468.4			13/16		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF272,Pfam_domain:PF00094,SMART_domains:SM00216																	HIGH	1	deletion	1	5		1										PASS		.	.												-	7	5	12	34079126	34079126	CG	-	1	0	1	0	1	0	0	0	0	1623	652	23	0		0	BMPER	7	34079126	Frame_Shift_Del	DEL	CG	C3L-00144_TP	3446879	34079126	125266847	698	4977											
TBX20	0	.	GRCh38	chr7	35204500	35204500	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttgtctgactctcatcccCcaagacatcttcttctcctc	6	14	5	16	0	5	2	1	1	5	1	9	2	6	2	3	1	0	1	3	1	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.973G>T	p.Gly325Trp	p.G325W	ENST00000408931	7/8	604	491	113	401	401	0	strelka-varscan-mutect	TBX20,missense_variant,p.Gly325Trp,ENST00000408931,NM_001077653.2;	A	ENST00000408931	Transcript	missense_variant	1500/1871	973/1344	325/447	G/W	Ggg/Tgg		1		-1	TBX20	HGNC	HGNC:11598	protein_coding	YES	CCDS43568.1	ENSP00000386170	Q9UMR3		UPI00004B23D3	NM_001077653.2	deleterious(0.03)		7/8		hmmpanther:PTHR11267																	MODERATE	1	SNV	1			1										PASS		rs1175494481	.												A	3	1	12	35204500	35204500	C	A	1	0	0	0	0	1	0	0	0	16061	623	22	2		2	TBX20	7	35204500	Missense_Mutation	SNP	C	C3L-00144_TP	1125374	35204500	124141473	699	4978											
TBX20	0	.	GRCh38	chr7	35248775	35248775	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagggacgatgtccatCaggactatgtacttggcctc	9	10	10	12	1	1	0	1	0	0	0	4	3	3	2	3	3	1	1	3	3	2	3			C3L-00144_TP	C3L-00144_NB	C	C																c.447G>T	p.=	p.L149L	ENST00000408931	3/8	602	471	131	433	432	1	strelka-varscan-mutect	TBX20,synonymous_variant,p.=,ENST00000408931,NM_001077653.2;TBX20,non_coding_transcript_exon_variant,,ENST00000492961,;	A	ENST00000408931	Transcript	synonymous_variant	974/1871	447/1344	149/447	L	ctG/ctT	COSM4548445,COSM4548446	1		-1	TBX20	HGNC	HGNC:11598	protein_coding	YES	CCDS43568.1	ENSP00000386170	Q9UMR3		UPI00004B23D3	NM_001077653.2			3/8		PROSITE_profiles:PS50252,hmmpanther:PTHR11267,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	12	35248775	35248775	C	A	1	0	0	0	0	0	0	0	1	16061	813	29	2		2	TBX20	7	35248775	Silent	SNP	C	C3L-00144_TP	44275	35248775	124097198	700	4979											
INHBA	0	.	GRCh38	chr7	41690532	41690532	+	Missense_Mutation	SNP	C	C	A																															atctcgaagtgcagcgtcttCctggctgttcctgaagatga																								rs775721235		C3L-00144_TP	C3L-00144_NB	C	C																c.399G>T	p.Arg133Ser	p.R133S	ENST00000242208	3/3	50	41	9	36	36	0	strelka-varscan-mutect	INHBA,missense_variant,p.Arg133Ser,ENST00000242208,NM_002192.2;INHBA,missense_variant,p.Arg133Ser,ENST00000638023,;INHBA,missense_variant,p.Arg133Ser,ENST00000442711,;INHBA-AS1,upstream_gene_variant,,ENST00000415848,;INHBA-AS1,upstream_gene_variant,,ENST00000422822,;INHBA-AS1,upstream_gene_variant,,ENST00000420821,;INHBA,non_coding_transcript_exon_variant,,ENST00000464515,;INHBA,intron_variant,,ENST00000416150,;	A	ENST00000242208	Transcript	missense_variant	646/6064	399/1281	133/426	R/S	agG/agT	rs775721235	1		-1	INHBA	HGNC	HGNC:6066	protein_coding	YES	CCDS5464.1	ENSP00000242208	P08476	A4D1W7	UPI000012D421	NM_002192.2	tolerated(0.22)		3/3		hmmpanther:PTHR11848:SF133,hmmpanther:PTHR11848,Pfam_domain:PF00688																	MODERATE	1	SNV	1			1										PASS		rs775721235	.												A	3	1	12	41690532	41690532	C	A	1	0	0	0	0	1	0	0	0	7643	854	30	2		2	INHBA	7	41690532	Missense_Mutation	SNP	C	C3L-00144_TP	6441757	41690532	117655441	701	4980	116	2									
INHBA	0	.	GRCh38	chr7	41690533	41690533	+	Missense_Mutation	SNP	C	C	A																															tctcgaagtgcagcgtcttcCtggctgttcctgaagatgaa																								rs763203259		C3L-00144_TP	C3L-00144_NB	C	C																c.398G>T	p.Arg133Met	p.R133M	ENST00000242208	3/3	51	42	9	36	36	0	strelka-varscan-mutect	INHBA,missense_variant,p.Arg133Met,ENST00000242208,NM_002192.2;INHBA,missense_variant,p.Arg133Met,ENST00000638023,;INHBA,missense_variant,p.Arg133Met,ENST00000442711,;INHBA-AS1,upstream_gene_variant,,ENST00000415848,;INHBA-AS1,upstream_gene_variant,,ENST00000422822,;INHBA-AS1,upstream_gene_variant,,ENST00000420821,;INHBA,non_coding_transcript_exon_variant,,ENST00000464515,;INHBA,intron_variant,,ENST00000416150,;	A	ENST00000242208	Transcript	missense_variant	645/6064	398/1281	133/426	R/M	aGg/aTg	rs763203259	1		-1	INHBA	HGNC	HGNC:6066	protein_coding	YES	CCDS5464.1	ENSP00000242208	P08476	A4D1W7	UPI000012D421	NM_002192.2	deleterious(0.03)		3/3		hmmpanther:PTHR11848:SF133,hmmpanther:PTHR11848,Pfam_domain:PF00688																	MODERATE	1	SNV	1			1										PASS		rs763203259	.												A	3	1	12	41690533	41690533	C	A	1	0	0	0	0	1	0	0	0	7643	681	24	2		2	INHBA	7	41690533	Missense_Mutation	SNP	C	C3L-00144_TP	1	41690533	117655440	702	4981	116	2									
HECW1	0	.	GRCh38	chr7	43444791	43444791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctgctccttgcctgtgtCcgagctggagacggtgatcg	4	10	14	13	3	0	2	0	1	0	1	3	4	2	2	4	2	3	2	4	2	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1619C>A	p.Ser540Tyr	p.S540Y	ENST00000395891	11/30	228	168	60	170	170	0	strelka-varscan-mutect	HECW1,missense_variant,p.Ser540Tyr,ENST00000395891,NM_015052.4;HECW1,missense_variant,p.Ser540Tyr,ENST00000453890,NM_001287059.1;HECW1,downstream_gene_variant,,ENST00000471043,;	A	ENST00000395891	Transcript	missense_variant	2224/9501	1619/4821	540/1606	S/Y	tCc/tAc		1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4	deleterious_low_confidence(0)		11/30		hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	43444791	43444791	C	A	1	0	0	0	0	1	0	0	0	6924	855	30	2		2	HECW1	7	43444791	Missense_Mutation	SNP	C	C3L-00144_TP	1754258	43444791	115901182	703	4982											
HECW1	0	.	GRCh38	chr7	43468998	43468998	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgggatgctcgcaattttGaacgctaccagcacaaccgg	11	7	11	12	4	0	1	0	1	0	0	1	3	0	2	2	2	5	4	2	2	4	3	rs773668081		C3L-00144_TP	C3L-00144_NB	G	G																c.2992G>C	p.Glu998Gln	p.E998Q	ENST00000395891	16/30	480	386	94	305	305	0	strelka-varscan-mutect	HECW1,missense_variant,p.Glu998Gln,ENST00000395891,NM_015052.4;HECW1,missense_variant,p.Glu964Gln,ENST00000453890,NM_001287059.1;	C	ENST00000395891	Transcript	missense_variant	3597/9501	2992/4821	998/1606	E/Q	Gaa/Caa	rs773668081,COSM1549808,COSM1549809	1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4	tolerated(0.06)		16/30		hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs773668081	.												C	3	2	12	43468998	43468998	G	C	1	0	0	0	0	1	0	0	0	6924	1291	45	4		4	HECW1	7	43468998	Missense_Mutation	SNP	G	C3L-00144_TP	24207	43468998	115876975	704	4983											
OGDH	0	.	GRCh38	chr7	44697717	44697717	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgaccagttcatctgcccgGgacaagccaagtgggtgcgg	8	7	14	12	3	2	0	1	0	1	0	3	2	2	1	3	3	3	1	3	3	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2293G>T	p.Gly765Ter	p.G765*	ENST00000222673	17/23	333	230	103	199	198	1	strelka-varscan-mutect	OGDH,stop_gained,p.Gly765Ter,ENST00000222673,NM_002541.3;OGDH,stop_gained,p.Gly764Ter,ENST00000631326,;OGDH,stop_gained,p.Gly761Ter,ENST00000449767,NM_001165036.1;OGDH,stop_gained,p.Gly776Ter,ENST00000447398,;OGDH,stop_gained,p.Gly780Ter,ENST00000444676,;OGDH,stop_gained,p.Gly615Ter,ENST00000439616,;	T	ENST00000222673	Transcript	stop_gained	2335/4181	2293/3072	765/1023	G/*	Gga/Tga		1		1	OGDH	HGNC	HGNC:8124	protein_coding	YES	CCDS34627.1	ENSP00000222673	Q02218		UPI000006D5FE	NM_002541.3			17/23		Gene3D:3.40.50.970,Pfam_domain:PF02779,PIRSF_domain:PIRSF000157,hmmpanther:PTHR23152,hmmpanther:PTHR23152:SF7,SMART_domains:SM00861,Superfamily_domains:SSF52518,TIGRFAM_domain:TIGR00239																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	44697717	44697717	G	T	1	0	0	0	0	0	1	0	0	10913	1233	43	2		2	OGDH	7	44697717	Nonsense_Mutation	SNP	G	C3L-00144_TP	1228719	44697717	114648256	705	4984											
PKD1L1	0	.	GRCh38	chr7	47855176	47855176	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccatcctcctccccaaaCtcgaccatcacgggtttcct	8	9	6	18	2	1	0	1	0	0	0	6	1	5	0	7	2	1	1	7	2	1	1	rs574906854		C3L-00144_TP	C3L-00144_NB	C	C																c.4680G>T	p.Glu1560Asp	p.E1560D	ENST00000289672	29/57	153	134	19	97	97	0	strelka-varscan-mutect	PKD1L1,missense_variant,p.Glu1560Asp,ENST00000289672,NM_138295.3;HUS1,intron_variant,,ENST00000436444,;	A	ENST00000289672	Transcript	missense_variant	4731/9092	4680/8550	1560/2849	E/D	gaG/gaT	rs574906854	1		-1	PKD1L1	HGNC	HGNC:18053	protein_coding	YES	CCDS34633.1	ENSP00000289672	Q8TDX9		UPI0000130FA9	NM_138295.3	deleterious(0.03)		29/57		PROSITE_profiles:PS51111,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF145																	MODERATE	1	SNV	1			1										PASS		rs574906854	.												A	3	1	12	47855176	47855176	C	A	1	0	0	0	0	1	0	0	0	12060	564	20	2		2	PKD1L1	7	47855176	Missense_Mutation	SNP	C	C3L-00144_TP	3157459	47855176	111490797	706	4985											
ABCA13	0	.	GRCh38	chr7	48271993	48271993	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tataagttctctgtggacaaAtcatttaaaaagtttaaaga	17	14	6	4	0	2	1	1	0	1	1	3	2	2	2	0	1	0	2	0	1	8	7	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2327A>T	p.Asn776Ile	p.N776I	ENST00000435803	17/62	404	301	103	343	343	0	strelka-varscan-mutect	ABCA13,missense_variant,p.Asn776Ile,ENST00000435803,NM_152701.4;ABCA13,3_prime_UTR_variant,,ENST00000417403,;	T	ENST00000435803	Transcript	missense_variant	2351/17184	2327/15177	776/5058	N/I	aAt/aTt		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4	deleterious(0)		17/62																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	48271993	48271993	A	T	1	0	0	0	0	1	0	0	0	35	101	4	4		4	ABCA13	7	48271993	Missense_Mutation	SNP	A	C3L-00144_TP	416817	48271993	111073980	707	4986											
ABCA13	0	.	GRCh38	chr7	48272089	48272089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggaaaatgcagactctcgGaagtcactggataaggaagg	14	8	13	6	1	2	1	1	0	1	1	3	5	2	5	0	5	1	1	0	5	5	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2423G>T	p.Gly808Val	p.G808V	ENST00000435803	17/62	419	357	62	380	379	1	strelka-varscan-mutect	ABCA13,missense_variant,p.Gly808Val,ENST00000435803,NM_152701.4;ABCA13,3_prime_UTR_variant,,ENST00000417403,;	T	ENST00000435803	Transcript	missense_variant	2447/17184	2423/15177	808/5058	G/V	gGa/gTa		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4	tolerated(0.1)		17/62																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	48272089	48272089	G	T	1	0	0	0	0	1	0	0	0	35	1174	41	2		2	ABCA13	7	48272089	Missense_Mutation	SNP	G	C3L-00144_TP	96	48272089	111073884	708	4987											
ABCA13	0	.	GRCh38	chr7	48587210	48587210	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgcggacaaacctgtGgccacctacagtgggggaac	10	4	13	14	2	0	0	0	0	0	0	0	2	0	2	4	4	3	0	4	4	3	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.14562G>T	p.=	p.V4854V	ENST00000435803	57/62	241	210	31	189	188	1	strelka-varscan-mutect	ABCA13,synonymous_variant,p.=,ENST00000435803,NM_152701.4;ABCA13,synonymous_variant,p.=,ENST00000544596,;ABCA13,synonymous_variant,p.=,ENST00000411975,;ABCA13,non_coding_transcript_exon_variant,,ENST00000611776,;ABCA13,synonymous_variant,p.=,ENST00000453246,;	T	ENST00000435803	Transcript	synonymous_variant	14586/17184	14562/15177	4854/5058	V	gtG/gtT		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4			57/62		PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs1439016148	.												T	2	4	12	48587210	48587210	G	T	1	0	0	0	0	0	0	0	1	35	1335	47	2		2	ABCA13	7	48587210	Silent	SNP	G	C3L-00144_TP	315121	48587210	110758763	709	4988											
VOPP1	0	.	GRCh38	chr7	55497629	55497629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagaagtaccacagccTctgtatggagagggcccgca	11	6	11	13	1	1	2	0	0	1	2	1	3	1	2	4	2	3	3	4	2	4	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.175A>G	p.Arg59Gly	p.R59G	ENST00000285279	3/5	244	185	59	211	211	0	strelka-varscan-mutect	VOPP1,missense_variant,p.Arg59Gly,ENST00000285279,NM_001321242.1,NM_001321251.1,NM_030796.3;VOPP1,missense_variant,p.Arg50Gly,ENST00000433959,NM_001284284.1;VOPP1,missense_variant,p.Arg56Gly,ENST00000625836,NM_001284283.1;VOPP1,missense_variant,p.Arg42Gly,ENST00000418904,NM_001284282.1;VOPP1,missense_variant,p.Arg57Gly,ENST00000427700,;VOPP1,5_prime_UTR_variant,,ENST00000428648,NM_001321250.1,NM_001321249.1;VOPP1,5_prime_UTR_variant,,ENST00000428097,;VOPP1,5_prime_UTR_variant,,ENST00000453256,;VOPP1,5_prime_UTR_variant,,ENST00000417399,;VOPP1,5_prime_UTR_variant,,ENST00000455023,;VOPP1,5_prime_UTR_variant,,ENST00000414113,;VOPP1,5_prime_UTR_variant,,ENST00000452832,;VOPP1,intron_variant,,ENST00000454227,;VOPP1,non_coding_transcript_exon_variant,,ENST00000471168,;VOPP1,non_coding_transcript_exon_variant,,ENST00000453112,;VOPP1,non_coding_transcript_exon_variant,,ENST00000462326,;VOPP1,non_coding_transcript_exon_variant,,ENST00000481197,;	C	ENST00000285279	Transcript	missense_variant	376/2962	175/519	59/172	R/G	Agg/Ggg		1		-1	VOPP1	HGNC	HGNC:34518	protein_coding	YES	CCDS47588.1	ENSP00000285279	Q96AW1		UPI000006F3B3	NM_001321242.1,NM_001321251.1,NM_030796.3	deleterious(0)		3/5		Prints_domain:PR02068,Prints_domain:PR02068,hmmpanther:PTHR14971,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	55497629	55497629	T	C	1	0	0	0	0	1	0	0	0	17732	1550	54	5		5	VOPP1	7	55497629	Missense_Mutation	SNP	T	C3L-00144_TP	6910419	55497629	103848344	710	4989											
ZNF713	0	.	GRCh38	chr7	55939100	55939100	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacagcttctggtactccatCctaggaggactctgggattt	8	12	11	10	0	2	0	0	0	2	0	4	4	4	3	2	4	2	2	2	4	2	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.426C>T	p.=	p.I142I	ENST00000429591	7/7	195	145	50	118	117	1	strelka-varscan-mutect	ZNF713,synonymous_variant,p.=,ENST00000429591,NM_182633.2;ZNF713,synonymous_variant,p.=,ENST00000633730,;RP11-15K19.2,intron_variant,,ENST00000426595,;	T	ENST00000429591	Transcript	synonymous_variant	1214/4339	426/1332	142/443	I	atC/atT		1		1	ZNF713	HGNC	HGNC:22043	protein_coding	YES		ENSP00000416662		A0A0M3HEQ9	UPI0000140F17	NM_182633.2			7/7		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF80																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	12	55939100	55939100	C	T	1	0	0	0	0	0	0	0	1	18692	845	30	3		3	ZNF713	7	55939100	Silent	SNP	C	C3L-00144_TP	441471	55939100	103406873	711	4990											
ZNF713	0	.	GRCh38	chr7	55939750	55939750	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatcacatcccttactgAacatcatagacttcataccg	12	10	4	15	2	3	2	3	1	0	1	4	2	4	2	3	0	3	1	3	0	4	4	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1076A>G	p.Glu359Gly	p.E359G	ENST00000429591	7/7	147	102	45	124	124	0	strelka-varscan-mutect	ZNF713,missense_variant,p.Glu359Gly,ENST00000429591,NM_182633.2;ZNF713,missense_variant,p.Glu346Gly,ENST00000633730,;RP11-15K19.2,intron_variant,,ENST00000426595,;	G	ENST00000429591	Transcript	missense_variant	1864/4339	1076/1332	359/443	E/G	gAa/gGa		1		1	ZNF713	HGNC	HGNC:22043	protein_coding	YES		ENSP00000416662		A0A0M3HEQ9	UPI0000140F17	NM_182633.2	deleterious(0.03)		7/7		Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF80,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	12	55939750	55939750	A	G	1	0	0	0	0	1	0	0	0	18692	246	9	5		5	ZNF713	7	55939750	Missense_Mutation	SNP	A	C3L-00144_TP	650	55939750	103406223	712	4991											
ZNF479	0	.	GRCh38	chr7	57119940	57119940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacattcttcacatttgtagGgtttctctccagtatgaatt	9	17	6	9	0	3	1	1	1	2	0	5	1	4	1	1	1	0	3	1	1	3	7			C3L-00144_TP	C3L-00144_NB	G	G																c.1475C>A	p.Pro492His	p.P492H	ENST00000331162	5/5	305	224	81	239	239	0	strelka-varscan-mutect	ZNF479,missense_variant,p.Pro492His,ENST00000331162,NM_033273.2;ZNF479,missense_variant,p.Pro492His,ENST00000319636,;ZNF479,missense_variant,p.Pro380His,ENST00000620639,;	T	ENST00000331162	Transcript	missense_variant	1746/2072	1475/1575	492/524	P/H	cCc/cAc	COSM3881927	1		-1	ZNF479	HGNC	HGNC:23258	protein_coding	YES	CCDS43590.1	ENSP00000333776	Q96JC4		UPI000006E615	NM_033273.2	deleterious(0.01)		5/5		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF103,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	12	57119940	57119940	G	T	1	0	0	0	0	1	0	0	0	18505	1232	43	2		2	ZNF479	7	57119940	Missense_Mutation	SNP	G	C3L-00144_TP	1180190	57119940	102226033	713	4992											
ZNF679	0	.	GRCh38	chr7	64266489	64266489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcaacacttgctaacCacaagagaattcatactgga	14	9	6	12	0	2	1	2	0	0	1	3	3	3	2	2	1	4	2	2	1	5	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.856C>A	p.His286Asn	p.H286N	ENST00000421025	5/5	219	155	64	174	174	0	strelka-varscan-mutect	ZNF679,missense_variant,p.His286Asn,ENST00000421025,NM_153363.2;ZNF679,missense_variant,p.His286Asn,ENST00000255746,;	A	ENST00000421025	Transcript	missense_variant	1125/1567	856/1236	286/411	H/N	Cac/Aac		1		1	ZNF679	HGNC	HGNC:28650	protein_coding	YES	CCDS47592.1	ENSP00000416809	Q8IYX0		UPI000045756A	NM_153363.2	deleterious(0.01)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF91,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	64266489	64266489	C	A	1	0	0	0	0	1	0	0	0	18659	594	21	2		2	ZNF679	7	64266489	Missense_Mutation	SNP	C	C3L-00144_TP	7146549	64266489	95079484	714	4993											
ZNF107	0	.	GRCh38	chr7	64706443	64706443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatttacagttaagaaaaGgctgtaaacatgtggatgag	17	10	11	3	0	0	3	0	1	0	2	0	4	0	4	0	2	2	3	0	2	7	4	rs144739473		C3L-00144_TP	C3L-00144_NB	G	G																c.346G>T	p.Gly116Cys	p.G116C	ENST00000620827	4/4	103	74	29	93	93	0	strelka-varscan-mutect	ZNF107,missense_variant,p.Gly47Cys,ENST00000395391,;ZNF107,missense_variant,p.Gly47Cys,ENST00000423627,NM_016220.4;ZNF107,missense_variant,p.Gly116Cys,ENST00000620827,NM_001282359.1;ZNF107,missense_variant,p.Gly84Cys,ENST00000613690,NM_001282360.1;ZNF107,missense_variant,p.Gly47Cys,ENST00000344930,NM_001013746.2;ZNF107,missense_variant,p.Gly47Cys,ENST00000360117,;	T	ENST00000620827	Transcript	missense_variant	546/5685	346/2559	116/852	G/C	Ggc/Tgc	rs144739473	1		1	ZNF107	HGNC	HGNC:12887	protein_coding	YES	CCDS75605.1	ENSP00000483720		A0A0B4J2G0	UPI0000049C52	NM_001282359.1	deleterious(0.05)		4/4																			MODERATE	1	SNV	4			1										PASS		rs144739473	.												T	3	4	12	64706443	64706443	G	T	1	0	0	0	0	1	0	0	0	18295	1000	35	2		2	ZNF107	7	64706443	Missense_Mutation	SNP	G	C3L-00144_TP	439954	64706443	94639530	715	4994											
ZNF107	0	.	GRCh38	chr7	64708369	64708369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataagaaaattcatactggaGagaaaccctataaatgtgaa	20	9	7	5	0	1	3	1	1	0	2	1	5	1	4	1	1	2	0	1	1	9	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2272G>C	p.Glu758Gln	p.E758Q	ENST00000620827	4/4	274	233	41	243	243	0	strelka-varscan-mutect	ZNF107,missense_variant,p.Glu689Gln,ENST00000395391,;ZNF107,missense_variant,p.Glu689Gln,ENST00000423627,NM_016220.4;ZNF107,missense_variant,p.Glu758Gln,ENST00000620827,NM_001282359.1;ZNF107,missense_variant,p.Glu726Gln,ENST00000613690,NM_001282360.1;ZNF107,missense_variant,p.Glu689Gln,ENST00000344930,NM_001013746.2;ZNF107,downstream_gene_variant,,ENST00000360117,;	C	ENST00000620827	Transcript	missense_variant	2472/5685	2272/2559	758/852	E/Q	Gag/Cag		1		1	ZNF107	HGNC	HGNC:12887	protein_coding	YES	CCDS75605.1	ENSP00000483720		A0A0B4J2G0	UPI0000049C52	NM_001282359.1	deleterious(0.02)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF121,Superfamily_domains:SSF57667																	MODERATE	1	SNV	4			1										PASS		.	.												C	3	2	12	64708369	64708369	G	C	1	0	0	0	0	1	0	0	0	18295	943	33	4		4	ZNF107	7	64708369	Missense_Mutation	SNP	G	C3L-00144_TP	1926	64708369	94637604	716	4995											
ASL	0	.	GRCh38	chr7	66086818	66086818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatcaatgtcctgcccctggGgaggtgggtgaggctccagt	6	9	16	10	0	1	1	1	1	0	0	3	3	3	2	4	5	1	1	4	5	1	0			C3L-00144_TP	C3L-00144_NB	G	G																c.599G>T	p.Gly200Val	p.G200V	ENST00000304874	8/17	185	135	50	125	124	1	strelka-varscan-mutect	ASL,missense_variant,p.Gly200Val,ENST00000304874,NM_000048.3;ASL,missense_variant,p.Gly200Val,ENST00000395332,NM_001024943.1;ASL,missense_variant,p.Gly200Val,ENST00000395331,NM_001024944.1;ASL,missense_variant,p.Gly135Val,ENST00000362000,;ASL,intron_variant,,ENST00000380839,NM_001024946.1;AC068533.7,upstream_gene_variant,,ENST00000450043,;ASL,upstream_gene_variant,,ENST00000464970,;ASL,upstream_gene_variant,,ENST00000488343,;ASL,non_coding_transcript_exon_variant,,ENST00000487982,;ASL,downstream_gene_variant,,ENST00000496336,;ASL,upstream_gene_variant,,ENST00000493708,;	T	ENST00000304874	Transcript	missense_variant	701/2143	599/1395	200/464	G/V	gGg/gTg	COSM33230	1		1	ASL	HGNC	HGNC:746	protein_coding	YES	CCDS5531.1	ENSP00000307188	P04424	A0A024RDL8	UPI0000001634	NM_000048.3	deleterious(0)		8/17		HAMAP:MF_00006,hmmpanther:PTHR11444:SF3,hmmpanther:PTHR11444,Gene3D:1.20.200.10,TIGRFAM_domain:TIGR00838,Pfam_domain:PF00206,Superfamily_domains:SSF48557,Prints_domain:PR00145											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	12	66086818	66086818	G	T	1	0	0	0	0	1	0	0	0	1191	1246	43	2		2	ASL	7	66086818	Missense_Mutation	SNP	G	C3L-00144_TP	1378449	66086818	93259155	717	4996											
RABGEF1	0	.	GRCh38	chr7	66772056	66772056	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggcagaagcagattcagGaggactgggagctggcggag	11	4	18	8	1	1	2	1	0	0	2	1	6	1	6	1	6	2	3	1	6	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.199G>T	p.Glu67Ter	p.E67*	ENST00000380828	2/9	53	35	18	28	28	0	varscan-mutect	RABGEF1,stop_gained,p.Glu67Ter,ENST00000380828,NM_001287061.1;RABGEF1,stop_gained,p.Glu53Ter,ENST00000284957,NM_014504.2;RABGEF1,stop_gained,p.Glu53Ter,ENST00000510829,;RABGEF1,stop_gained,p.Glu66Ter,ENST00000439720,;RABGEF1,stop_gained,p.Glu53Ter,ENST00000450873,NM_001287062.1;RABGEF1,5_prime_UTR_variant,,ENST00000437078,NM_001287060.1;RABGEF1,downstream_gene_variant,,ENST00000442563,;RABGEF1,non_coding_transcript_exon_variant,,ENST00000484547,;KCTD7,stop_gained,p.Glu191Ter,ENST00000503687,;RABGEF1,stop_gained,p.Glu53Ter,ENST00000607882,;	T	ENST00000380828	Transcript	stop_gained	370/3864	199/1518	67/505	E/*	Gag/Tag		1		1	RABGEF1	HGNC	HGNC:17676	protein_coding	YES	CCDS69308.1	ENSP00000370208	Q9UJ41		UPI00017A848C	NM_001287061.1			2/9		hmmpanther:PTHR23101,hmmpanther:PTHR23101:SF69,Superfamily_domains:SSF57716																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	12	66772056	66772056	G	T	1	0	0	0	0	0	1	0	0	13125	1175	41	2		2	RABGEF1	7	66772056	Nonsense_Mutation	SNP	G	C3L-00144_TP	685238	66772056	92573917	718	4997											
CALN1	0	.	GRCh38	chr7	71787791	71787791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctactccatgccgctcCggagtatctggttggctgca	5	11	12	13	2	1	0	0	0	1	0	3	1	3	1	3	3	4	7	3	3	2	3	rs370771019		C3L-00144_TP	C3L-00144_NB	C	C																c.770G>A	p.Arg257Gln	p.R257Q	ENST00000395275	7/7	186	167	19	134	134	0	strelka-varscan-mutect	CALN1,missense_variant,p.Arg257Gln,ENST00000395275,NM_031468.3;CALN1,missense_variant,p.Arg215Gln,ENST00000329008,NM_001017440.2;CALN1,missense_variant,p.Arg215Gln,ENST00000395276,;CALN1,missense_variant,p.Arg91Gln,ENST00000405452,;CALN1,missense_variant,p.Arg215Gln,ENST00000431984,;	T	ENST00000395275	Transcript	missense_variant	1159/9459	770/786	257/261	R/Q	cGg/cAg	rs370771019,COSM3086485,COSM3086486	1		-1	CALN1	HGNC	HGNC:13248	protein_coding	YES	CCDS47603.1	ENSP00000378690	Q9BXU9		UPI0000D4B903	NM_031468.3	deleterious_low_confidence(0)		7/7		hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF51											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs370771019	.												T	3	4	12	71787791	71787791	C	T	1	0	0	0	0	1	0	0	0	2282	652	23	1		1	CALN1	7	71787791	Missense_Mutation	SNP	C	C3L-00144_TP	5015735	71787791	87558182	719	4998											
NSUN5	0	.	GRCh38	chr7	73304017	73304017	+	Silent	SNP	C	C	A																															gtgcctgccccgggctcctcCagctgtctgctcggcatacc																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.954G>T	p.=	p.L318L	ENST00000310326	8/10	229	204	25	164	164	0	strelka-varscan-mutect	NSUN5,synonymous_variant,p.=,ENST00000428206,NM_001168348.2;NSUN5,synonymous_variant,p.=,ENST00000252594,NM_018044.4;NSUN5,synonymous_variant,p.=,ENST00000438747,NM_148956.3;NSUN5,synonymous_variant,p.=,ENST00000310326,NM_001168347.2;NSUN5,non_coding_transcript_exon_variant,,ENST00000471461,;NSUN5,non_coding_transcript_exon_variant,,ENST00000478977,;NSUN5,downstream_gene_variant,,ENST00000455763,;POM121B,downstream_gene_variant,,ENST00000380760,;	A	ENST00000310326	Transcript	synonymous_variant	980/1602	954/1413	318/470	L	ctG/ctT		1		-1	NSUN5	HGNC	HGNC:16385	protein_coding	YES	CCDS55119.1	ENSP00000309126	Q96P11		UPI00017A7817	NM_001168347.2			8/10		Gene3D:3.40.50.150,Pfam_domain:PF01189,PROSITE_profiles:PS51686,hmmpanther:PTHR22807,hmmpanther:PTHR22807:SF4,Superfamily_domains:SSF53335																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	12	73304017	73304017	C	A	1	0	0	0	0	0	0	0	1	10744	581	21	2		2	NSUN5	7	73304017	Silent	SNP	C	C3L-00144_TP	1516226	73304017	86041956	720	4999	117	2									
NSUN5	0	.	GRCh38	chr7	73304018	73304018	+	Missense_Mutation	SNP	A	A	G																															tgcctgccccgggctcctccAgctgtctgctcggcatacct																								rs149254341		C3L-00144_TP	C3L-00144_NB	A	A																c.953T>C	p.Leu318Pro	p.L318P	ENST00000310326	8/10	223	197	26	161	161	0	strelka-varscan-mutect	NSUN5,missense_variant,p.Leu280Pro,ENST00000428206,NM_001168348.2;NSUN5,missense_variant,p.Leu318Pro,ENST00000252594,NM_018044.4;NSUN5,missense_variant,p.Leu318Pro,ENST00000438747,NM_148956.3;NSUN5,missense_variant,p.Leu318Pro,ENST00000310326,NM_001168347.2;NSUN5,non_coding_transcript_exon_variant,,ENST00000471461,;NSUN5,non_coding_transcript_exon_variant,,ENST00000478977,;NSUN5,downstream_gene_variant,,ENST00000455763,;POM121B,downstream_gene_variant,,ENST00000380760,;	G	ENST00000310326	Transcript	missense_variant	979/1602	953/1413	318/470	L/P	cTg/cCg	rs149254341,COSM1091519,COSM1091520	1		-1	NSUN5	HGNC	HGNC:16385	protein_coding	YES	CCDS55119.1	ENSP00000309126	Q96P11		UPI00017A7817	NM_001168347.2	tolerated(0.22)		8/10		Gene3D:3.40.50.150,Pfam_domain:PF01189,PROSITE_profiles:PS51686,hmmpanther:PTHR22807,hmmpanther:PTHR22807:SF4,Superfamily_domains:SSF53335											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs149254341	.												G	3	3	12	73304018	73304018	A	G	1	0	0	0	0	1	0	0	0	10744	188	7	5		5	NSUN5	7	73304018	Missense_Mutation	SNP	A	C3L-00144_TP	1	73304018	86041955	721	5000	117	2									
TRIM50	0	.	GRCh38	chr7	73324404	73324404	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccttcatgcggctgtaGacggtggagacgggcgtgac	7	7	15	12	4	1	3	1	1	0	2	1	4	1	3	2	4	1	2	2	4	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.384C>A	p.=	p.V128V	ENST00000333149	2/7	460	413	47	344	344	0	strelka-varscan-mutect	TRIM50,synonymous_variant,p.=,ENST00000333149,NM_178125.3,NM_001281450.1;TRIM50,synonymous_variant,p.=,ENST00000453152,NM_001281451.1;FKBP6,upstream_gene_variant,,ENST00000413573,NM_001281304.1;FKBP6,upstream_gene_variant,,ENST00000252037,NM_003602.4;FKBP6,upstream_gene_variant,,ENST00000431982,NM_001135211.2;FKBP6,upstream_gene_variant,,ENST00000442793,;TRIM50,non_coding_transcript_exon_variant,,ENST00000493498,;FKBP6,upstream_gene_variant,,ENST00000445032,;FKBP6,upstream_gene_variant,,ENST00000429879,;FKBP6,upstream_gene_variant,,ENST00000437013,;	T	ENST00000333149	Transcript	synonymous_variant	585/2047	384/1464	128/487	V	gtC/gtA		1		-1	TRIM50	HGNC	HGNC:19017	protein_coding	YES	CCDS34654.1	ENSP00000327994	Q86XT4	Q2M204	UPI0000684286	NM_178125.3,NM_001281450.1			2/7		hmmpanther:PTHR24103:SF399,hmmpanther:PTHR24103,Superfamily_domains:SSF57845																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	73324404	73324404	G	T	1	0	0	0	0	0	0	0	1	17018	929	33	2		2	TRIM50	7	73324404	Silent	SNP	G	C3L-00144_TP	20386	73324404	86021569	722	5001											
CLDN3	0	.	GRCh38	chr7	73769596	73769596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcgcgcttctgcgcctcggGcaccacggggttgtagaagt	5	9	14	13	5	1	1	0	0	1	1	3	1	1	1	2	3	1	4	2	3	2	3	rs782810492		C3L-00144_TP	C3L-00144_NB	G	G																c.454C>T	p.Pro152Ser	p.P152S	ENST00000395145	1/1	80	57	23	70	70	0	strelka-varscan-mutect	CLDN3,missense_variant,p.Pro152Ser,ENST00000395145,NM_001306.3;	A	ENST00000395145	Transcript	missense_variant	675/1274	454/663	152/220	P/S	Ccc/Tcc	rs782810492	1		-1	CLDN3	HGNC	HGNC:2045	protein_coding	YES	CCDS5559.1	ENSP00000378577	O15551	Q75L79	UPI0000044942	NM_001306.3	tolerated(0.34)		1/1		hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF112,Pfam_domain:PF00822																	MODERATE	1	SNV				1										PASS		rs782810492	.												A	3	1	12	73769596	73769596	G	A	1	0	0	0	0	1	0	0	0	3251	1203	42	3		3	CLDN3	7	73769596	Missense_Mutation	SNP	G	C3L-00144_TP	445192	73769596	85576377	723	5002											
GTF2IRD2B	0	.	GRCh38	chr7	75148148	75148148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acccagttggccatattcatCcgtggtgtcgatgagaattt	9	13	10	9	2	1	1	1	1	0	1	3	3	2	1	3	2	0	1	3	2	2	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1701C>T	p.=	p.I567I	ENST00000472837	16/16	205	190	15	141	141	0	varscan-mutect	GTF2IRD2B,synonymous_variant,p.=,ENST00000472837,NM_001003795.2;GTF2IRD2B,downstream_gene_variant,,ENST00000619142,;GTF2IRD2B,downstream_gene_variant,,ENST00000629105,;GTF2IRD2B,3_prime_UTR_variant,,ENST00000418185,;GTF2IRD2B,non_coding_transcript_exon_variant,,ENST00000611835,;GTF2IRD2B,downstream_gene_variant,,ENST00000394939,;	T	ENST00000472837	Transcript	synonymous_variant	1891/3560	1701/2850	567/949	I	atC/atT		1		1	GTF2IRD2B	HGNC	HGNC:33125	protein_coding	YES	CCDS34659.1	ENSP00000480524	Q6EKJ0		UPI0000251DF5	NM_001003795.2			16/16		hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF35,Superfamily_domains:SSF53098																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	75148148	75148148	C	T	1	0	0	0	0	0	0	0	1	6751	845	30	3		3	GTF2IRD2B	7	75148148	Silent	SNP	C	C3L-00144_TP	1378552	75148148	84197825	724	5003											
GNAT3	0	.	GRCh38	chr7	80462197	80462197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatactaagatgcaccttgGttaccttttcttgaaagata	13	14	7	7	0	1	4	0	1	1	3	1	4	1	4	2	1	3	2	2	1	5	8	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.836C>A	p.Thr279Asn	p.T279N	ENST00000398291	7/8	213	156	57	172	172	0	strelka-mutect	GNAT3,missense_variant,p.Thr279Asn,ENST00000398291,NM_001102386.1;CD36,intron_variant,,ENST00000435819,;	T	ENST00000398291	Transcript	missense_variant	930/1159	836/1065	279/354	T/N	aCc/aAc		1		-1	GNAT3	HGNC	HGNC:22800	protein_coding	YES	CCDS47625.1	ENSP00000381339	A8MTJ3		UPI0000198E14	NM_001102386.1	tolerated(0.19)		7/8		hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF66,Pfam_domain:PF00503,Gene3D:3.40.50.300,SMART_domains:SM00275,Superfamily_domains:SSF52540,Prints_domain:PR00441																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	80462197	80462197	G	T	1	0	0	0	0	1	0	0	0	6393	1261	44	2		2	GNAT3	7	80462197	Missense_Mutation	SNP	G	C3L-00144_TP	5314049	80462197	78883776	725	5004											
HGF	0	.	GRCh38	chr7	81745095	81745095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgagacctcgataactCtccccattgcaggtcatgca	10	10	7	14	1	2	1	1	1	1	1	5	3	3	1	4	1	3	2	4	1	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.651G>T	p.Glu217Asp	p.E217D	ENST00000222390	6/18	368	289	79	308	308	0	strelka-varscan-mutect	HGF,missense_variant,p.Glu217Asp,ENST00000222390,NM_000601.4;HGF,missense_variant,p.Glu212Asp,ENST00000457544,NM_001010932.1;HGF,missense_variant,p.Glu217Asp,ENST00000444829,NM_001010931.1;HGF,missense_variant,p.Glu212Asp,ENST00000453411,NM_001010933.1;	A	ENST00000222390	Transcript	missense_variant	878/5989	651/2187	217/728	E/D	gaG/gaT		1		-1	HGF	HGNC	HGNC:4893	protein_coding	YES	CCDS5597.1	ENSP00000222390	P14210		UPI000000D92B	NM_000601.4	deleterious(0.03)		6/18		PROSITE_profiles:PS50070,hmmpanther:PTHR24256:SF190,hmmpanther:PTHR24256,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152,Gene3D:2.40.20.10,Pfam_domain:PF00051,SMART_domains:SM00130,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	81745095	81745095	C	A	1	0	0	0	0	1	0	0	0	6969	912	32	2		2	HGF	7	81745095	Missense_Mutation	SNP	C	C3L-00144_TP	1282898	81745095	77600878	726	5005											
CACNA2D1	0	.	GRCh38	chr7	81964301	81964301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgttaaaagcataaactGatatattaaccaggtgtctc	15	14	6	6	0	1	1	0	1	1	0	2	1	1	1	1	1	3	2	1	1	7	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2633C>T	p.Ser878Leu	p.S878L	ENST00000356860	33/39	199	173	26	179	179	0	strelka-varscan-mutect	CACNA2D1,missense_variant,p.Ser878Leu,ENST00000356860,NM_000722.3;CACNA2D1,missense_variant,p.Ser890Leu,ENST00000356253,;CACNA2D1,downstream_gene_variant,,ENST00000486539,;CACNA2D1,upstream_gene_variant,,ENST00000469297,;	A	ENST00000356860	Transcript	missense_variant	2972/7563	2633/3276	878/1091	S/L	tCa/tTa		1		-1	CACNA2D1	HGNC	HGNC:1399	protein_coding	YES	CCDS5598.1	ENSP00000349320	P54289		UPI00003674CD	NM_000722.3	deleterious(0)		33/39		Pfam_domain:PF08473,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	81964301	81964301	G	A	1	0	0	0	0	1	0	0	0	2236	1294	45	3		3	CACNA2D1	7	81964301	Missense_Mutation	SNP	G	C3L-00144_TP	219206	81964301	77381672	727	5006											
CACNA2D1	0	.	GRCh38	chr7	81984659	81984659	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctgagttattgtctcttCtagtttggcttttatatagt	6	20	9	6	0	2	1	0	1	2	0	3	1	2	1	1	2	0	3	1	2	5	9	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1849G>C	p.Glu617Gln	p.E617Q	ENST00000356860	22/39	387	321	66	327	327	0	strelka-varscan-mutect	CACNA2D1,missense_variant,p.Glu617Gln,ENST00000356860,NM_000722.3;CACNA2D1,missense_variant,p.Glu636Gln,ENST00000356253,;CACNA2D1,missense_variant,p.Glu135Gln,ENST00000443883,;	G	ENST00000356860	Transcript	missense_variant	2188/7563	1849/3276	617/1091	E/Q	Gaa/Caa		1		-1	CACNA2D1	HGNC	HGNC:1399	protein_coding	YES	CCDS5598.1	ENSP00000349320	P54289		UPI00003674CD	NM_000722.3	tolerated(0.26)		22/39		hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	81984659	81984659	C	G	1	0	0	0	0	1	0	0	0	2236	922	32	4		4	CACNA2D1	7	81984659	Missense_Mutation	SNP	C	C3L-00144_TP	20358	81984659	77361314	728	5007											
PCLO	0	.	GRCh38	chr7	82914866	82914866	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtccagctgcagccctggCcattcccattggctggccaa	6	8	12	15	0	0	0	0	0	0	0	2	0	2	0	5	4	3	3	5	4	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.13120G>C	p.Ala4374Pro	p.A4374P	ENST00000333891	7/25	191	137	54	175	175	0	strelka-varscan-mutect	PCLO,missense_variant,p.Ala4374Pro,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Ala4374Pro,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Ala1094Pro,ENST00000437081,;	G	ENST00000333891	Transcript	missense_variant	13458/20329	13120/15429	4374/5142	A/P	Gcc/Ccc		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	deleterious(0.02)		7/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	12	82914866	82914866	C	G	1	0	0	0	0	1	0	0	0	11671	739	26	4		4	PCLO	7	82914866	Missense_Mutation	SNP	C	C3L-00144_TP	930207	82914866	76431107	729	5008											
PCLO	0	.	GRCh38	chr7	82954786	82954786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagcatctagtagtttcCtttcttcttctgtagaagtt	8	18	6	9	0	5	1	1	0	4	1	6	1	6	1	1	0	1	5	1	0	4	8	rs189561105		C3L-00144_TP	C3L-00144_NB	C	C																c.6167G>T	p.Arg2056Met	p.R2056M	ENST00000333891	5/25	149	129	20	99	99	0	strelka-varscan-mutect	PCLO,missense_variant,p.Arg2056Met,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Arg2056Met,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	A	ENST00000333891	Transcript	missense_variant	6505/20329	6167/15429	2056/5142	R/M	aGg/aTg	rs189561105,COSM1623182,COSM1623183,COSM1623184	1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	deleterious(0.02)		5/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113											0,1,1,1						MODERATE	1	SNV	2		0,1,1,1	1										PASS		rs189561105	.												A	3	1	12	82954786	82954786	C	A	1	0	0	0	0	1	0	0	0	11671	681	24	2		2	PCLO	7	82954786	Missense_Mutation	SNP	C	C3L-00144_TP	39920	82954786	76391187	730	5009											
RUNDC3B	0	.	GRCh38	chr7	87830016	87830016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagatgacaagtccaggcCtaactccatcctgaaaattt	14	9	7	11	0	0	3	0	2	0	1	3	4	3	3	4	1	1	0	4	1	4	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1408C>A	p.Leu470Ile	p.L470I	ENST00000338056	12/12	51	43	8	41	41	0	strelka-varscan-mutect	RUNDC3B,missense_variant,p.Leu470Ile,ENST00000338056,NM_138290.2;RUNDC3B,missense_variant,p.Leu453Ile,ENST00000394654,NM_001134405.1;RUNDC3B,missense_variant,p.Leu404Ile,ENST00000493037,NM_001134406.1;SLC25A40,downstream_gene_variant,,ENST00000341119,NM_018843.3;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000312373,;	A	ENST00000338056	Transcript	missense_variant	1819/4099	1408/1422	470/473	L/I	Cta/Ata		1		1	RUNDC3B	HGNC	HGNC:30286	protein_coding	YES	CCDS5609.1	ENSP00000337732	Q96NL0		UPI0000071425	NM_138290.2	tolerated(0.06)		12/12		hmmpanther:PTHR22835:SF124,hmmpanther:PTHR22835																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	12	87830016	87830016	C	A	1	0	0	0	0	1	0	0	0	14006	680	24	2		2	RUNDC3B	7	87830016	Missense_Mutation	SNP	C	C3L-00144_TP	4875230	87830016	71515957	731	5010											
SRI	0	.	GRCh38	chr7	88217187	88217187	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attcatcagcatctatctgcCcatccttttgaaaaaaaatt	14	14	3	10	0	4	1	2	1	2	0	5	1	5	1	2	0	2	1	2	0	5	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.140G>T	p.Gly47Val	p.G47V	ENST00000265729	3/8	352	326	26	246	244	2	strelka-varscan-mutect	SRI,missense_variant,p.Gly47Val,ENST00000265729,NM_003130.3,NM_001256891.1;SRI,missense_variant,p.Gly32Val,ENST00000431660,NM_001256892.1;SRI,missense_variant,p.Gly47Val,ENST00000419179,;SRI,missense_variant,p.Gly32Val,ENST00000394641,NM_198901.1;SRI,missense_variant,p.Gly4Val,ENST00000490437,;CTB-167B5.1,intron_variant,,ENST00000520993,;AC003991.3,upstream_gene_variant,,ENST00000594469,;SRI,missense_variant,p.Gly47Val,ENST00000457606,;SRI,non_coding_transcript_exon_variant,,ENST00000486860,;SRI,non_coding_transcript_exon_variant,,ENST00000488015,;SRI,non_coding_transcript_exon_variant,,ENST00000489079,;	A	ENST00000265729	Transcript	missense_variant	193/2010	140/597	47/198	G/V	gGg/gTg		1		-1	SRI	HGNC	HGNC:11292	protein_coding	YES	CCDS5612.1	ENSP00000265729	P30626		UPI0000112055	NM_003130.3,NM_001256891.1	deleterious(0)		3/8		Gene3D:1.10.238.10,Pfam_domain:PF13833,PROSITE_profiles:PS50222,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF297,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	88217187	88217187	C	A	1	0	0	0	0	1	0	0	0	15510	637	22	2		2	SRI	7	88217187	Missense_Mutation	SNP	C	C3L-00144_TP	387171	88217187	71128786	732	5011											
STEAP1	0	.	GRCh38	chr7	90159843	90159843	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactttggaaaatgaagcctAggagaaatttagaagaagac	19	8	10	4	0	0	5	0	1	0	4	0	7	0	6	1	2	2	0	1	2	9	4	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.55A>T	p.Arg19Trp	p.R19W	ENST00000297205	2/5	149	131	18	159	159	0	strelka-varscan-mutect	STEAP1,missense_variant,p.Arg19Trp,ENST00000297205,NM_012449.2;STEAP2-AS1,intron_variant,,ENST00000478318,;STEAP1,non_coding_transcript_exon_variant,,ENST00000475789,;STEAP1,upstream_gene_variant,,ENST00000412573,;	T	ENST00000297205	Transcript	missense_variant	255/1313	55/1020	19/339	R/W	Agg/Tgg		1		1	STEAP1	HGNC	HGNC:11378	protein_coding	YES	CCDS5614.1	ENSP00000297205	Q9UHE8		UPI000003C398	NM_012449.2	tolerated_low_confidence(0.11)		2/5		hmmpanther:PTHR14239:SF3,hmmpanther:PTHR14239																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	90159843	90159843	A	T	1	0	0	0	0	1	0	0	0	15653	411	15	4		4	STEAP1	7	90159843	Missense_Mutation	SNP	A	C3L-00144_TP	1942656	90159843	69186130	733	5012											
CFAP69	0	.	GRCh38	chr7	90262050	90262051	+	Frame_Shift_Del	DEL	TG	TG	-																															tgcatatgatatcataaaacTgtgtgggtaagttatctttc																								novel		C3L-00144_TP	C3L-00144_NB	TG	TG																c.354_355delTG	p.Cys118TrpfsTer12	p.C118Wfs*12	ENST00000389297	4/23	145	119	26	196	196	0	sindel-varindel-pindel	CFAP69,frameshift_variant,p.Cys118TrpfsTer12,ENST00000389297,NM_001039706.2;CFAP69,frameshift_variant,p.Cys118TrpfsTer12,ENST00000497910,NM_001160138.1;CFAP69,frameshift_variant,p.Cys58TrpfsTer12,ENST00000457170,;AC002064.4,downstream_gene_variant,,ENST00000420245,;CFAP69,splice_donor_variant,,ENST00000463311,;CFAP69,intron_variant,,ENST00000485791,;CFAP69,frameshift_variant,p.Cys118TrpfsTer12,ENST00000451029,;CFAP69,frameshift_variant,p.Cys118TrpfsTer4,ENST00000427396,;	-	ENST00000389297	Transcript	frameshift_variant	601-602/3902	350-351/2826	117/941	L/X	cTG/c		1		1	CFAP69	HGNC	HGNC:26107	protein_coding	YES	CCDS43613.2	ENSP00000373948	A5D8W1		UPI000066DA29	NM_001039706.2			4/23		hmmpanther:PTHR14716:SF0,hmmpanther:PTHR14716																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	12	90262050	90262050	TG	-	1	0	1	0	1	0	0	0	0	3030	1580	55	0		0	CFAP69	7	90262050	Frame_Shift_Del	DEL	TG	C3L-00144_TP	102207	90262050	69083923	734	5013											
HEPACAM2	0	.	GRCh38	chr7	93208658	93208658	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaagcacagcacacatagtCcattgtcttctgggctactt	10	12	8	11	0	2	0	0	0	2	0	3	0	3	0	1	1	3	4	1	1	3	6	rs141573896		C3L-00144_TP	C3L-00144_NB	C	C																c.1003G>T	p.Asp335Tyr	p.D335Y	ENST00000453812	5/11	305	274	31	244	244	0	strelka-varscan-mutect	HEPACAM2,missense_variant,p.Asp312Tyr,ENST00000394468,NM_001039372.2;HEPACAM2,missense_variant,p.Asp300Tyr,ENST00000341723,NM_198151.2;HEPACAM2,missense_variant,p.Asp300Tyr,ENST00000440868,NM_001288810.1;HEPACAM2,missense_variant,p.Asp335Tyr,ENST00000453812,NM_001288804.1;HEPACAM2,upstream_gene_variant,,ENST00000492616,;	A	ENST00000453812	Transcript	missense_variant	1026/1869	1003/1458	335/485	D/Y	Gac/Tac	rs141573896	1		-1	HEPACAM2	HGNC	HGNC:27364	protein_coding	YES	CCDS75632.1	ENSP00000390204	A8MVW5		UPI000198CEF3	NM_001288804.1	deleterious(0)		5/11		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	2			1										PASS		rs141573896	.												A	3	1	12	93208658	93208658	C	A	1	0	0	0	0	1	0	0	0	6937	855	30	2		2	HEPACAM2	7	93208658	Missense_Mutation	SNP	C	C3L-00144_TP	2946608	93208658	66137315	735	5014											
COL1A2	0	.	GRCh38	chr7	94408342	94408342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttcttcttagggtgccCgtggcagtgatggaagtgtg	6	15	14	6	1	2	1	0	1	2	0	2	2	2	2	1	3	1	1	1	3	3	5			C3L-00144_TP	C3L-00144_NB	C	C																c.700C>T	p.Arg234Cys	p.R234C	ENST00000297268	15/52	464	338	126	338	338	0	strelka-varscan-mutect	COL1A2,missense_variant,p.Arg234Cys,ENST00000297268,NM_000089.3;COL1A2,missense_variant,p.Arg232Cys,ENST00000620463,;	T	ENST00000297268	Transcript	missense_variant	1171/5411	700/4101	234/1366	R/C	Cgt/Tgt	CM090272,COSM4505760	1		1	COL1A2	HGNC	HGNC:2198	protein_coding	YES	CCDS34682.1	ENSP00000297268	P08123	A0A0S2Z3H5	UPI00003B0CFC	NM_000089.3	deleterious(0)		15/52		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1206388800	.												T	3	4	12	94408342	94408342	C	T	1	0	0	0	0	1	0	0	0	3466	652	23	1		1	COL1A2	7	94408342	Missense_Mutation	SNP	C	C3L-00144_TP	1199684	94408342	64937631	736	5015											
PEG10	0	.	GRCh38	chr7	94664110	94664110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggtctgtcatcgactactCcaatgctttccagatgattg	8	13	10	10	1	2	2	1	1	1	1	5	3	4	2	2	2	2	1	2	2	2	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.782C>A	p.Ser261Tyr	p.S261Y	ENST00000488574	2/2	263	176	87	176	175	1	strelka-varscan-mutect	PEG10,missense_variant,p.Ser185Tyr,ENST00000482108,NM_015068.3,NM_001184961.1,NM_001172437.2,NM_001040152.1;PEG10,missense_variant,p.Ser219Tyr,ENST00000615790,NM_001184962.1;PEG10,missense_variant,p.Ser219Tyr,ENST00000612941,;PEG10,missense_variant,p.Ser185Tyr,ENST00000617526,;PEG10,missense_variant,p.Ser261Tyr,ENST00000488574,NM_001172438.2;PEG10,missense_variant,p.Ser261Tyr,ENST00000612748,;PEG10,downstream_gene_variant,,ENST00000613043,;PEG10,intron_variant,,ENST00000493935,;PEG10,upstream_gene_variant,,ENST00000465184,;	A	ENST00000488574	Transcript	missense_variant	999/2587	782/1206	261/401	S/Y	tCc/tAc		1		1	PEG10	HGNC	HGNC:14005	protein_coding	YES	CCDS75636.1	ENSP00000418944		B4DSP0	UPI0000037665	NM_001172438.2	tolerated(0.06)		2/2		hmmpanther:PTHR15503:SF10,hmmpanther:PTHR15503																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	94664110	94664110	C	A	1	0	0	0	0	1	0	0	0	11807	855	30	2		2	PEG10	7	94664110	Missense_Mutation	SNP	C	C3L-00144_TP	255768	94664110	64681863	737	5016											
LMTK2	0	.	GRCh38	chr7	98141517	98141517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaatatttcactcccagctCcctcgcaattccagccttct	9	12	3	17	1	2	0	1	0	1	0	6	0	5	0	4	0	2	2	4	0	3	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.352C>T	p.Pro118Ser	p.P118S	ENST00000297293	3/14	154	133	21	111	111	0	strelka-varscan-mutect	LMTK2,missense_variant,p.Pro118Ser,ENST00000297293,NM_014916.3;LMTK2,non_coding_transcript_exon_variant,,ENST00000493372,;	T	ENST00000297293	Transcript	missense_variant	645/8946	352/4512	118/1503	P/S	Ccc/Tcc		1		1	LMTK2	HGNC	HGNC:17880	protein_coding	YES	CCDS5654.1	ENSP00000297293	Q8IWU2		UPI000014F277	NM_014916.3	tolerated(0.12)		3/14		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF357																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	98141517	98141517	C	T	1	0	0	0	0	1	0	0	0	8786	855	30	3		3	LMTK2	7	98141517	Missense_Mutation	SNP	C	C3L-00144_TP	3477407	98141517	61204456	738	5017											
AZGP1	0	.	GRCh38	chr7	99968088	99968088	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccggactaagatgttgccTgagctcctagcctgagatcg	9	9	12	11	2	0	3	0	2	0	2	2	6	1	4	4	1	3	2	4	1	2	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.671A>T	p.Gln224Leu	p.Q224L	ENST00000411734	3/3	358	256	102	206	206	0	strelka-varscan-mutect	AZGP1,missense_variant,p.Gln224Leu,ENST00000411734,;AZGP1,intron_variant,,ENST00000292401,NM_001185.3;AZGP1,intron_variant,,ENST00000419575,;AZGP1,upstream_gene_variant,,ENST00000483612,;AZGP1,intron_variant,,ENST00000477251,;AZGP1,downstream_gene_variant,,ENST00000495765,;	A	ENST00000411734	Transcript	missense_variant	677/2027	671/684	224/227	Q/L	cAg/cTg		1		-1	AZGP1	HGNC	HGNC:910	protein_coding			ENSP00000396093		C9JEV0	UPI0000D4BCFF		deleterious_low_confidence(0)		3/3																			MODERATE		SNV	1			1										PASS		.	.												A	3	1	12	99968088	99968088	T	A	1	0	0	0	0	1	0	0	0	1396	1580	55	4		4	AZGP1	7	99968088	Missense_Mutation	SNP	T	C3L-00144_TP	1826571	99968088	59377885	739	5018											
NYAP1	0	.	GRCh38	chr7	100488928	100488934	+	Frame_Shift_Del	DEL	GCCCGGA	GCCCGGA	-																															tgctgggaccatcgggccggGcccggagccactcgacaccg																								novel		C3L-00144_TP	C3L-00144_NB	GCCCGGA	GCCCGGA																c.1210_1216delCGGAGCC	p.Arg404ThrfsTer25	p.R404Tfs*25	ENST00000300179	4/7	64	58	6	60	60	0	sindel-varindel	NYAP1,frameshift_variant,p.Arg404ThrfsTer25,ENST00000300179,NM_173564.3;NYAP1,frameshift_variant,p.Arg347ThrfsTer25,ENST00000454988,;NYAP1,upstream_gene_variant,,ENST00000496985,;NYAP1,upstream_gene_variant,,ENST00000489641,;	-	ENST00000300179	Transcript	frameshift_variant	1366-1372/3581	1207-1213/2526	403-405/841	ARS/X	GCCCGGAgc/gc		1		1	NYAP1	HGNC	HGNC:22009	protein_coding	YES	CCDS5696.1	ENSP00000300179	Q6ZVC0		UPI00001C0A2E	NM_173564.3			4/7		Pfam_domain:PF15439,hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF2																	HIGH	1	deletion	2	3		1										PASS		.	.												-	7	5	12	100488928	100488928	GCCCGGA	-	1	0	1	0	1	0	0	0	0	10872	1203	42	0		0	NYAP1	7	100488928	Frame_Shift_Del	DEL	GCCCGGA	C3L-00144_TP	520840	100488928	58857045	740	5019	118	3									
NYAP1	0	.	GRCh38	chr7	100488935	100488935	+	Missense_Mutation	SNP	G	G	C																															accatcgggccgggcccggaGccactcgacaccgttgccac																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1214G>C	p.Ser405Thr	p.S405T	ENST00000300179	4/7	62	56	6	55	55	0	strelka-varscan-mutect	NYAP1,missense_variant,p.Ser405Thr,ENST00000300179,NM_173564.3;NYAP1,missense_variant,p.Ser348Thr,ENST00000454988,;NYAP1,upstream_gene_variant,,ENST00000496985,;NYAP1,upstream_gene_variant,,ENST00000489641,;	C	ENST00000300179	Transcript	missense_variant	1373/3581	1214/2526	405/841	S/T	aGc/aCc		1		1	NYAP1	HGNC	HGNC:22009	protein_coding	YES	CCDS5696.1	ENSP00000300179	Q6ZVC0		UPI00001C0A2E	NM_173564.3	deleterious(0.02)		4/7		Pfam_domain:PF15439,hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF2																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	12	100488935	100488935	G	C	1	0	0	0	0	1	0	0	0	10872	971	34	4		4	NYAP1	7	100488935	Missense_Mutation	SNP	G	C3L-00144_TP	7	100488935	58857038	741	5020	118	3									
NYAP1	0	.	GRCh38	chr7	100488938	100488938	+	Missense_Mutation	SNP	A	A	T																															atcgggccgggcccggagccActcgacaccgttgccacccc																								novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1217A>T	p.His406Leu	p.H406L	ENST00000300179	4/7	62	56	6	57	57	0	strelka-varscan-mutect	NYAP1,missense_variant,p.His406Leu,ENST00000300179,NM_173564.3;NYAP1,missense_variant,p.His349Leu,ENST00000454988,;NYAP1,upstream_gene_variant,,ENST00000496985,;NYAP1,upstream_gene_variant,,ENST00000489641,;	T	ENST00000300179	Transcript	missense_variant	1376/3581	1217/2526	406/841	H/L	cAc/cTc		1		1	NYAP1	HGNC	HGNC:22009	protein_coding	YES	CCDS5696.1	ENSP00000300179	Q6ZVC0		UPI00001C0A2E	NM_173564.3	deleterious(0)		4/7		Pfam_domain:PF15439,hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF2																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	100488938	100488938	A	T	1	0	0	0	0	1	0	0	0	10872	159	6	4		4	NYAP1	7	100488938	Missense_Mutation	SNP	A	C3L-00144_TP	3	100488938	58857035	742	5021	118	3									
AGFG2	0	.	GRCh38	chr7	100562271	100562271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcccagggagcagccaggGgactccatttggtgccactc	7	7	13	14	0	0	0	0	0	0	0	2	2	1	2	4	4	4	1	4	4	0	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.890G>T	p.Gly297Val	p.G297V	ENST00000300176	7/12	134	114	20	92	92	0	strelka-varscan-mutect	AGFG2,missense_variant,p.Gly297Val,ENST00000300176,NM_006076.4;AGFG2,missense_variant,p.Gly39Val,ENST00000429987,;AGFG2,non_coding_transcript_exon_variant,,ENST00000474713,;AGFG2,3_prime_UTR_variant,,ENST00000430857,;	T	ENST00000300176	Transcript	missense_variant	1012/4796	890/1446	297/481	G/V	gGg/gTg		1		1	AGFG2	HGNC	HGNC:5177	protein_coding	YES	CCDS5697.1	ENSP00000300176	O95081	A4D2D6	UPI000003E7D5	NM_006076.4	tolerated(0.35)		7/12		hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF233																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	100562271	100562271	G	T	1	0	0	0	0	1	0	0	0	458	1232	43	2		2	AGFG2	7	100562271	Missense_Mutation	SNP	G	C3L-00144_TP	73333	100562271	58783702	743	5022											
ZAN	0	.	GRCh38	chr7	100765439	100765439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggattctccggcatgttctGctcagaccggtgcgtggagg	6	10	15	10	3	3	1	1	0	2	1	4	3	3	3	2	5	2	3	2	5	0	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.4355G>T	p.Cys1452Phe	p.C1452F	ENST00000613979	23/48	564	424	140	487	485	2	strelka-varscan-mutect	ZAN,missense_variant,p.Cys1452Phe,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Cys1452Phe,ENST00000618565,;ZAN,missense_variant,p.Cys1452Phe,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Cys1452Phe,ENST00000546292,;ZAN,missense_variant,p.Cys1452Phe,ENST00000542585,;ZAN,missense_variant,p.Cys1452Phe,ENST00000538115,;ZAN,missense_variant,p.Cys1452Phe,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,;	T	ENST00000613979	Transcript	missense_variant	4520/8669	4355/8439	1452/2812	C/F	tGc/tTc		1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.2	deleterious(0)		23/48		Gene3D:2.10.25.10,Pfam_domain:PF01826,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF221,SMART_domains:SM00181,Superfamily_domains:SSF57567																	MODERATE	1	SNV	1			1										PASS		rs1416699213	.												T	3	4	12	100765439	100765439	G	T	1	0	0	0	0	1	0	0	0	18074	1319	46	2		2	ZAN	7	100765439	Missense_Mutation	SNP	G	C3L-00144_TP	203168	100765439	58580534	744	5023											
SLC12A9	0	.	GRCh38	chr7	100857062	100857062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcatcagttttgtggctgtgGggccgagggacatccgcttg	5	12	15	9	2	2	0	2	0	0	0	3	2	3	1	2	4	0	3	2	4	0	3	rs775068338		C3L-00144_TP	C3L-00144_NB	G	G																c.643G>T	p.Gly215Trp	p.G215W	ENST00000354161	5/14	314	278	36	265	265	0	strelka-varscan-mutect	SLC12A9,missense_variant,p.Gly215Trp,ENST00000354161,NM_020246.3;SLC12A9,missense_variant,p.Gly215Trp,ENST00000540482,NM_001267812.1;SLC12A9,missense_variant,p.Gly126Trp,ENST00000415287,NM_001267814.1;SLC12A9,5_prime_UTR_variant,,ENST00000418037,;SLC12A9,intron_variant,,ENST00000416675,;SLC12A9,downstream_gene_variant,,ENST00000434158,;RP11-126L15.4,upstream_gene_variant,,ENST00000412754,;SLC12A9,intron_variant,,ENST00000461016,;SLC12A9,upstream_gene_variant,,ENST00000475623,;SLC12A9,upstream_gene_variant,,ENST00000482184,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000467972,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000475687,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000497958,;SLC12A9,intron_variant,,ENST00000448342,;SLC12A9,upstream_gene_variant,,ENST00000487651,;SLC12A9,downstream_gene_variant,,ENST00000462106,;	T	ENST00000354161	Transcript	missense_variant	768/3273	643/2745	215/914	G/W	Ggg/Tgg	rs775068338,COSM1225905	1		1	SLC12A9	HGNC	HGNC:17435	protein_coding	YES	CCDS5707.1	ENSP00000275730	Q9BXP2		UPI000006CD28	NM_020246.3	deleterious(0)		5/14		hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF52,Pfam_domain:PF00324											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs775068338	.												T	3	4	12	100857062	100857062	G	T	1	0	0	0	0	1	0	0	0	14655	1232	43	2		2	SLC12A9	7	100857062	Missense_Mutation	SNP	G	C3L-00144_TP	91623	100857062	58488911	745	5024											
MUC12	0	.	GRCh38	chr7	100990844	100990844	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaggtgcaactggaacaaCactcttcccttcccactctg	9	9	6	17	0	2	0	0	0	2	0	4	1	4	1	3	2	4	1	3	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.281C>A	p.Thr94Lys	p.T94K	ENST00000536621	2/12	500	449	51	403	403	0	strelka-varscan-mutect	MUC12,missense_variant,p.Thr237Lys,ENST00000379442,;MUC12,missense_variant,p.Thr94Lys,ENST00000536621,NM_001164462.1;	A	ENST00000536621	Transcript	missense_variant	281/16321	281/16008	94/5335	T/K	aCa/aAa		1		1	MUC12	HGNC	HGNC:7510	protein_coding	YES	CCDS55139.1	ENSP00000441929	Q9UKN1		UPI0001B25898	NM_001164462.1	deleterious_low_confidence(0)		2/12																			MODERATE	1	SNV	5			1										PASS		rs1433284178	.												A	3	1	12	100990844	100990844	C	A	1	0	0	0	0	1	0	0	0	9969	478	17	2		2	MUC12	7	100990844	Missense_Mutation	SNP	C	C3L-00144_TP	133782	100990844	58355129	746	5025											
MUC12	0	.	GRCh38	chr7	100992801	100992801	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagctaccacagcagcccGggctcaactgcaacaacaca	14	3	7	17	1	1	0	1	0	0	0	1	0	1	0	3	1	8	4	3	1	4	1	rs778671820		C3L-00144_TP	C3L-00144_NB	G	G																c.2238G>T	p.=	p.P746P	ENST00000536621	2/12	724	644	80	663	662	1	varscan-mutect	MUC12,synonymous_variant,p.=,ENST00000379442,;MUC12,synonymous_variant,p.=,ENST00000536621,NM_001164462.1;	T	ENST00000536621	Transcript	synonymous_variant	2238/16321	2238/16008	746/5335	P	ccG/ccT	rs778671820	1		1	MUC12	HGNC	HGNC:7510	protein_coding	YES	CCDS55139.1	ENSP00000441929	Q9UKN1		UPI0001B25898	NM_001164462.1			2/12																			LOW	1	SNV	5			1										PASS		rs778671820	.												T	2	4	12	100992801	100992801	G	T	1	0	0	0	0	0	0	0	1	9969	1103	39	1		1	MUC12	7	100992801	Silent	SNP	G	C3L-00144_TP	1957	100992801	58353172	747	5026											
MUC12	0	.	GRCh38	chr7	100993101	100993101	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcacgacaagctcaggCgtcagtgaagaatccaccac	13	4	10	14	2	2	2	2	1	0	1	3	3	3	2	3	1	2	2	3	1	3	0	rs538991481		C3L-00144_TP	C3L-00144_NB	C	C																c.2538C>A	p.=	p.G846G	ENST00000536621	2/12	530	468	62	442	442	0	varscan-mutect	MUC12,synonymous_variant,p.=,ENST00000379442,;MUC12,synonymous_variant,p.=,ENST00000536621,NM_001164462.1;	A	ENST00000536621	Transcript	synonymous_variant	2538/16321	2538/16008	846/5335	G	ggC/ggA	rs538991481,COSM4412405,COSM4412406	1		1	MUC12	HGNC	HGNC:7510	protein_coding	YES	CCDS55139.1	ENSP00000441929	Q9UKN1		UPI0001B25898	NM_001164462.1			2/12		Low_complexity_(Seg):seg											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs538991481	.												A	2	1	12	100993101	100993101	C	A	1	0	0	0	0	0	0	0	1	9969	755	27	1		1	MUC12	7	100993101	Silent	SNP	C	C3L-00144_TP	300	100993101	58352872	748	5027											
MUC12	0	.	GRCh38	chr7	101005217	101005217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacccttccctgacagccCaggcttcactcacacagtgt	9	9	6	17	0	2	1	2	1	0	0	3	1	3	1	3	1	2	1	3	1	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.14654C>T	p.Pro4885Leu	p.P4885L	ENST00000536621	2/12	347	239	108	254	254	0	strelka-varscan-mutect	MUC12,missense_variant,p.Pro5028Leu,ENST00000379442,;MUC12,missense_variant,p.Pro4885Leu,ENST00000536621,NM_001164462.1;	T	ENST00000536621	Transcript	missense_variant	14654/16321	14654/16008	4885/5335	P/L	cCa/cTa		1		1	MUC12	HGNC	HGNC:7510	protein_coding	YES	CCDS55139.1	ENSP00000441929	Q9UKN1		UPI0001B25898	NM_001164462.1	tolerated(0.1)		2/12																			MODERATE	1	SNV	5			1										PASS		rs962369951	.												T	3	4	12	101005217	101005217	C	T	1	0	0	0	0	1	0	0	0	9969	594	21	3		3	MUC12	7	101005217	Missense_Mutation	SNP	C	C3L-00144_TP	12116	101005217	58340756	749	5028											
MUC17	0	.	GRCh38	chr7	101040342	101040342	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaactgctgaaggtaccAgcatgccaatctcaactcct	12	9	6	14	0	1	1	1	1	1	0	3	1	2	1	3	1	7	3	3	1	6	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.8926A>T	p.Ser2976Cys	p.S2976C	ENST00000306151	3/13	139	104	35	99	99	0	strelka-varscan-mutect	MUC17,missense_variant,p.Ser2976Cys,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ser2976Cys,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	T	ENST00000306151	Transcript	missense_variant	8990/14247	8926/13482	2976/4493	S/C	Agc/Tgc		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	deleterious(0)		3/13		Low_complexity_(Seg):seg,hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	101040342	101040342	A	T	1	0	0	0	0	1	0	0	0	9973	188	7	4		4	MUC17	7	101040342	Missense_Mutation	SNP	A	C3L-00144_TP	35125	101040342	58305631	750	5029											
FBXL13	0	.	GRCh38	chr7	103025128	103025128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcatctacaagaaagaCttcagaagaacttcgttcag	15	10	7	9	1	4	4	3	0	2	4	6	4	4	4	0	0	2	1	0	0	5	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.430G>A	p.Val144Ile	p.V144I	ENST00000313221	6/20	272	202	70	215	215	0	strelka-varscan-mutect	FBXL13,missense_variant,p.Val144Ile,ENST00000313221,NM_145032.3;FBXL13,missense_variant,p.Val234Ile,ENST00000379308,;FBXL13,missense_variant,p.Val144Ile,ENST00000436908,;FBXL13,missense_variant,p.Val144Ile,ENST00000379305,NM_001287150.1;FBXL13,missense_variant,p.Val144Ile,ENST00000455112,NM_001111038.1;FBXL13,missense_variant,p.Val144Ile,ENST00000456695,;FBXL13,downstream_gene_variant,,ENST00000440067,;RP11-645N11.3,upstream_gene_variant,,ENST00000447336,;FBXL13,non_coding_transcript_exon_variant,,ENST00000471074,;FBXL13,missense_variant,p.Val234Ile,ENST00000448002,;	T	ENST00000313221	Transcript	missense_variant	857/2744	430/2208	144/735	V/I	Gtc/Atc		1		-1	FBXL13	HGNC	HGNC:21658	protein_coding	YES	CCDS5726.1	ENSP00000321927	Q8NEE6		UPI000020F830	NM_145032.3	tolerated(0.43)		6/20		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF485																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	103025128	103025128	C	T	1	0	0	0	0	1	0	0	0	5573	565	20	3		3	FBXL13	7	103025128	Missense_Mutation	SNP	C	C3L-00144_TP	1984786	103025128	56320845	751	5030											
RELN	0	.	GRCh38	chr7	103551076	103551076	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtccttacccacaaaggTgcagcttcccaaagtgcacg	10	7	10	14	2	0	0	0	0	0	0	2	0	2	0	3	2	4	3	3	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.6293A>T	p.His2098Leu	p.H2098L	ENST00000428762	41/65	615	544	71	508	507	1	strelka-varscan-mutect	RELN,missense_variant,p.His2098Leu,ENST00000424685,;RELN,missense_variant,p.His2098Leu,ENST00000428762,NM_005045.3;RELN,missense_variant,p.His2098Leu,ENST00000343529,NM_173054.2;	A	ENST00000428762	Transcript	missense_variant	6453/11571	6293/10383	2098/3460	H/L	cAc/cTc		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3	tolerated(0.12)		41/65		hmmpanther:PTHR11841																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	103551076	103551076	T	A	1	0	0	0	0	1	0	0	0	13390	1696	59	4		4	RELN	7	103551076	Missense_Mutation	SNP	T	C3L-00144_TP	525948	103551076	55794897	752	5031											
RELN	0	.	GRCh38	chr7	103917096	103917096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatccgaaagcactggaacCtccaatgctctgtgatgcct	12	9	8	12	1	1	1	0	1	1	0	3	3	3	2	4	1	4	2	4	1	4	0	rs761478356		C3L-00144_TP	C3L-00144_NB	C	C																c.316G>T	p.Gly106Cys	p.G106C	ENST00000428762	2/65	392	353	39	316	315	1	strelka-varscan-mutect	RELN,missense_variant,p.Gly106Cys,ENST00000424685,;RELN,missense_variant,p.Gly106Cys,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Gly106Cys,ENST00000343529,NM_173054.2;	A	ENST00000428762	Transcript	missense_variant	476/11571	316/10383	106/3460	G/C	Ggt/Tgt	rs761478356	1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3	deleterious_low_confidence(0.03)		2/65		Low_complexity_(Seg):seg,PROSITE_profiles:PS51019,Pfam_domain:PF02014																	MODERATE	1	SNV	5			1										PASS		rs761478356	.												A	3	1	12	103917096	103917096	C	A	1	0	0	0	0	1	0	0	0	13390	681	24	2		2	RELN	7	103917096	Missense_Mutation	SNP	C	C3L-00144_TP	366020	103917096	55428877	753	5032											
PIK3CG	0	.	GRCh38	chr7	106867687	106867687	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctcatccccatcgagttCgtgctgcccaccagccagcg	7	7	10	17	3	1	0	1	0	0	0	4	2	2	0	5	0	5	3	5	0	0	1	rs796408783		C3L-00144_TP	C3L-00144_NB	C	C																c.126C>T	p.=	p.F42F	ENST00000359195	2/11	207	187	20	149	149	0	strelka-varscan-mutect	PIK3CG,synonymous_variant,p.=,ENST00000359195,NM_002649.3;PIK3CG,synonymous_variant,p.=,ENST00000496166,NM_001282426.1;PIK3CG,synonymous_variant,p.=,ENST00000440650,NM_001282427.1;PIK3CG,intron_variant,,ENST00000473541,;	T	ENST00000359195	Transcript	synonymous_variant	436/5377	126/3309	42/1102	F	ttC/ttT	rs796408783,COSM3254552	1		1	PIK3CG	HGNC	HGNC:8978	protein_coding	YES	CCDS5739.1	ENSP00000352121	P48736	A0A024R720	UPI00000746B8	NM_002649.3			2/11		PROSITE_profiles:PS51544,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34											0,1						LOW	1	SNV	1		0,1	1										PASS		rs796408783	.												T	2	4	12	106867687	106867687	C	T	1	0	0	0	0	0	0	0	1	12011	883	31	1		1	PIK3CG	7	106867687	Silent	SNP	C	C3L-00144_TP	2950591	106867687	52478286	754	5033											
LAMB1	0	.	GRCh38	chr7	107961266	107961266	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggtgtactgaggcagCtccaacctcaccgtgtagtt	9	9	13	10	1	1	1	1	1	0	0	2	3	2	2	3	3	3	5	3	3	3	3	rs773534292		C3L-00144_TP	C3L-00144_NB	C	C																c.2049G>C	p.Glu683Asp	p.E683D	ENST00000222399	17/34	264	202	62	201	201	0	strelka-varscan-mutect	LAMB1,missense_variant,p.Glu707Asp,ENST00000393561,;LAMB1,missense_variant,p.Glu683Asp,ENST00000222399,NM_002291.2;LAMB1,missense_variant,p.Glu683Asp,ENST00000393560,;	G	ENST00000222399	Transcript	missense_variant	2280/5725	2049/5361	683/1786	E/D	gaG/gaC	rs773534292	1		-1	LAMB1	HGNC	HGNC:6486	protein_coding	YES	CCDS5750.1	ENSP00000222399	P07942		UPI00001AE63F	NM_002291.2	tolerated(0.08)		17/34		PROSITE_profiles:PS51116																	MODERATE	1	SNV	1			1										PASS		rs773534292	.												G	3	3	12	107961266	107961266	C	G	1	0	0	0	0	1	0	0	0	8514	796	28	4		4	LAMB1	7	107961266	Missense_Mutation	SNP	C	C3L-00144_TP	1093579	107961266	51384707	755	5034											
GPR85	0	.	GRCh38	chr7	113084021	113084021	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctgcctggccactggctCcaggaccatgaaaagtccag	10	6	11	14	0	0	1	0	1	0	0	2	2	2	2	5	3	2	2	5	3	2	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.701G>T	p.Gly234Val	p.G234V	ENST00000297146	3/3	138	99	39	101	100	1	strelka-varscan-mutect	GPR85,missense_variant,p.Gly234Val,ENST00000297146,NM_001146265.1,NM_018970.6;GPR85,missense_variant,p.Gly234Val,ENST00000424100,NM_001146267.1;GPR85,missense_variant,p.Gly234Val,ENST00000449591,NM_001146266.1;GPR85,downstream_gene_variant,,ENST00000438062,;GPR85,downstream_gene_variant,,ENST00000449735,;GPR85,downstream_gene_variant,,ENST00000487573,;GPR85,missense_variant,p.Gly234Val,ENST00000610164,;	A	ENST00000297146	Transcript	missense_variant	1305/5079	701/1113	234/370	G/V	gGa/gTa		1		-1	GPR85	HGNC	HGNC:4536	protein_coding	YES	CCDS5758.1	ENSP00000297146	P60893	A4D0T8	UPI0000004048	NM_001146265.1,NM_018970.6	deleterious(0)		3/3		Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	113084021	113084021	C	A	1	0	0	0	0	1	0	0	0	6596	855	30	2		2	GPR85	7	113084021	Missense_Mutation	SNP	C	C3L-00144_TP	5122755	113084021	46261952	756	5035											
CAPZA2	0	.	GRCh38	chr7	116904377	116904377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacattacccgaatggagtCtgcactgtaagtcatcagta	13	10	9	9	1	3	0	2	0	1	0	3	3	3	1	1	1	3	3	1	1	5	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.420C>T	p.=	p.V140V	ENST00000361183	5/10	154	112	42	138	138	0	strelka-varscan-mutect	CAPZA2,synonymous_variant,p.=,ENST00000361183,NM_006136.2;CAPZA2,synonymous_variant,p.=,ENST00000490693,;CAPZA2,synonymous_variant,p.=,ENST00000628758,;CAPZA2,non_coding_transcript_exon_variant,,ENST00000417431,;CAPZA2,downstream_gene_variant,,ENST00000414148,;CAPZA2,synonymous_variant,p.=,ENST00000426421,;CAPZA2,3_prime_UTR_variant,,ENST00000449080,;CAPZA2,non_coding_transcript_exon_variant,,ENST00000464669,;	T	ENST00000361183	Transcript	synonymous_variant	559/5182	420/861	140/286	V	gtC/gtT		1		1	CAPZA2	HGNC	HGNC:1490	protein_coding	YES	CCDS5768.1	ENSP00000354947	P47755	A4D0V4	UPI00001270FC	NM_006136.2			5/10		hmmpanther:PTHR10653:SF2,hmmpanther:PTHR10653,Pfam_domain:PF01267,Superfamily_domains:SSF90096																	LOW	1	SNV	1			1										PASS		rs1022490148	.												T	2	4	12	116904377	116904377	C	T	1	0	0	0	0	0	0	0	1	2336	900	32	3		3	CAPZA2	7	116904377	Silent	SNP	C	C3L-00144_TP	3820356	116904377	42441596	757	5036											
KCND2	0	.	GRCh38	chr7	120275562	120275562	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgccactctcaaggcctGcgcatcctggggtacacact	7	8	9	17	2	1	0	1	0	1	0	4	0	3	0	4	3	2	2	4	3	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.930G>T	p.=	p.L310L	ENST00000331113	1/6	78	59	19	74	74	0	strelka-varscan-mutect	KCND2,synonymous_variant,p.=,ENST00000331113,NM_012281.2;	T	ENST00000331113	Transcript	synonymous_variant	1895/5331	930/1893	310/630	L	ctG/ctT		1		1	KCND2	HGNC	HGNC:6238	protein_coding	YES	CCDS5776.1	ENSP00000333496	Q9NZV8	A4D0V9	UPI0000073D37	NM_012281.2			1/6		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF159,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169																	LOW	1	SNV	1			1										PASS		rs1359896450	.												T	2	4	12	120275562	120275562	G	T	1	0	0	0	0	0	0	0	1	7935	1306	46	2		2	KCND2	7	120275562	Silent	SNP	G	C3L-00144_TP	3371185	120275562	39070411	758	5037											
CPED1	0	.	GRCh38	chr7	121271378	121271378	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacattcactataacaaTggggcgttacaaagagtttc	14	11	8	8	1	1	2	1	1	0	1	2	2	1	2	0	2	2	2	0	2	5	5	rs371287806		C3L-00144_TP	C3L-00144_NB	T	T																c.2816T>G	p.Met939Arg	p.M939R	ENST00000310396	22/23	252	200	52	189	189	0	strelka-varscan-mutect	CPED1,missense_variant,p.Met939Arg,ENST00000310396,NM_024913.4;	G	ENST00000310396	Transcript	missense_variant	3283/5340	2816/3081	939/1026	M/R	aTg/aGg	rs371287806	1		1	CPED1	HGNC	HGNC:26159	protein_coding	YES	CCDS34739.1	ENSP00000309772	A4D0V7		UPI000013C813	NM_024913.4	deleterious(0)		22/23		hmmpanther:PTHR14776																	MODERATE	1	SNV	1			1										PASS		rs371287806	.												G	3	3	12	121271378	121271378	T	G	1	0	0	0	0	1	0	0	0	3598	1464	51	5		5	CPED1	7	121271378	Missense_Mutation	SNP	T	C3L-00144_TP	995816	121271378	38074595	759	5038											
GRM8	0	.	GRCh38	chr7	126532961	126532961	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctacttaccttttctgcTgactgggctgtaccaaaaaa	10	14	6	11	0	2	1	0	1	2	0	2	1	2	1	2	1	4	3	2	1	6	6	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2421A>T	p.=	p.S807S	ENST00000339582	9/11	42	33	9	46	46	0	strelka-varscan-mutect	GRM8,synonymous_variant,p.=,ENST00000339582,NM_000845.2;GRM8,synonymous_variant,p.=,ENST00000358373,NM_001127323.1;GRM8,synonymous_variant,p.=,ENST00000444921,;GRM8,downstream_gene_variant,,ENST00000480995,;GRM8,synonymous_variant,p.=,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	A	ENST00000339582	Transcript	synonymous_variant	3230/4057	2421/2727	807/908	S	tcA/tcT		1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2			9/11		Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	12	126532961	126532961	T	A	1	0	0	0	0	0	0	0	1	6685	1567	55	4		4	GRM8	7	126532961	Silent	SNP	T	C3L-00144_TP	5261583	126532961	32813012	760	5039											
ZNF800	0	.	GRCh38	chr7	127374581	127374581	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttccatctttttcttgtgtActtttcgaatgtgacggcga	6	18	8	9	3	2	1	0	1	2	0	4	3	3	1	1	1	1	1	1	1	2	7	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.755T>A	p.Val252Glu	p.V252E	ENST00000393313	5/6	242	214	28	230	230	0	strelka-varscan-mutect	ZNF800,missense_variant,p.Val252Glu,ENST00000393313,;ZNF800,missense_variant,p.Val252Glu,ENST00000265827,NM_176814.4;ZNF800,missense_variant,p.Val252Glu,ENST00000393312,;ZNF800,missense_variant,p.Val252Glu,ENST00000619291,;ZNF800,downstream_gene_variant,,ENST00000434602,;ZNF800,downstream_gene_variant,,ENST00000436992,;ZNF800,downstream_gene_variant,,ENST00000439506,;ZNF800,upstream_gene_variant,,ENST00000485577,;	T	ENST00000393313	Transcript	missense_variant	1347/4358	755/1995	252/664	V/E	gTa/gAa		1		-1	ZNF800	HGNC	HGNC:27267	protein_coding	YES	CCDS5795.1	ENSP00000376989	Q2TB10		UPI000020FA03		deleterious(0.01)		5/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS50157,hmmpanther:PTHR21020,PROSITE_patterns:PS00028,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	127374581	127374581	A	T	1	0	0	0	0	1	0	0	0	18754	391	14	4		4	ZNF800	7	127374581	Missense_Mutation	SNP	A	C3L-00144_TP	841620	127374581	31971392	761	5040											
CCDC136	0	.	GRCh38	chr7	128812106	128812106	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacaagagttacaccagcAcccagaccagcagcaagagc	16	4	8	13	0	0	3	0	0	0	3	0	3	0	3	3	0	6	4	3	0	4	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2335A>T	p.Thr779Ser	p.T779S	ENST00000297788	13/18	511	459	52	438	437	1	strelka-varscan-mutect	CCDC136,missense_variant,p.Thr779Ser,ENST00000297788,NM_022742.4;CCDC136,missense_variant,p.Thr656Ser,ENST00000494552,;CCDC136,missense_variant,p.Thr370Ser,ENST00000464672,;CCDC136,intron_variant,,ENST00000487361,;CCDC136,intron_variant,,ENST00000464832,;CCDC136,intron_variant,,ENST00000378685,NM_001201372.1;CCDC136,upstream_gene_variant,,ENST00000471729,;CCDC136,non_coding_transcript_exon_variant,,ENST00000480137,;CCDC136,intron_variant,,ENST00000528772,;CCDC136,downstream_gene_variant,,ENST00000485832,;CCDC136,downstream_gene_variant,,ENST00000460941,;	T	ENST00000297788	Transcript	missense_variant	2702/4169	2335/3465	779/1154	T/S	Acc/Tcc		1		1	CCDC136	HGNC	HGNC:22225	protein_coding	YES	CCDS47704.1	ENSP00000297788	Q96JN2		UPI0000E445DE	NM_022742.4	tolerated_low_confidence(0.75)		13/18		Low_complexity_(Seg):seg,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF26																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	128812106	128812106	A	T	1	0	0	0	0	1	0	0	0	2459	159	6	4		4	CCDC136	7	128812106	Missense_Mutation	SNP	A	C3L-00144_TP	1437525	128812106	30533867	762	5041											
KCP	0	.	GRCh38	chr7	128884003	128884003	+	Frame_Shift_Del	DEL	G	G	-																															cccacatccctggactcaccGgcacaggtgggacagcagtg																								rs757433051		C3L-00144_TP	C3L-00144_NB	G	G																c.3243delC	p.Glu1082ArgfsTer3	p.E1082Rfs*3	ENST00000610776	29/40	128	101	27	132	132	0	sindel-varindel-pindel	KCP,frameshift_variant,p.Glu1082ArgfsTer3,ENST00000610776,;KCP,frameshift_variant,p.Glu1086ArgfsTer3,ENST00000613019,;KCP,frameshift_variant,p.Glu1022ArgfsTer3,ENST00000620378,NM_001135914.1;KCP,frameshift_variant,p.Glu1086ArgfsTer3,ENST00000611280,;KCP,upstream_gene_variant,,ENST00000492679,;KCP,upstream_gene_variant,,ENST00000460528,;	-	ENST00000610776	Transcript	frameshift_variant,splice_region_variant	3286/5108	3243/4887	1081/1628	A/X	gcC/gc	rs757433051	1		-1	KCP	HGNC	HGNC:17585	protein_coding	YES		ENSP00000479679		A0A087WVT8	UPI0004620CE8				29/40		PROSITE_profiles:PS50184,PROSITE_profiles:PS50184,Superfamily_domains:SSF57603																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	12	128884003	128884003	G	-	1	0	1	0	1	0	0	0	0	8012	1130	39	0		0	KCP	7	128884003	Frame_Shift_Del	DEL	G	C3L-00144_TP	71897	128884003	30461970	763	5042											
CPA4	0	.	GRCh38	chr7	130298827	130298827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaattcaaacaacttgaaGgtacctggttctttttagct	11	15	8	7	0	2	2	1	2	1	0	2	2	2	2	1	2	4	3	1	2	6	7	rs759503907		C3L-00144_TP	C3L-00144_NB	G	G																c.150G>T	p.Lys50Asn	p.K50N	ENST00000222482	2/11	196	161	35	159	158	1	strelka-varscan-mutect	CPA4,missense_variant,p.Lys50Asn,ENST00000222482,NM_016352.3;CPA4,missense_variant,p.Lys50Asn,ENST00000445470,NM_001163446.1;CPA4,missense_variant,p.Lys50Asn,ENST00000473956,;CPA4,missense_variant,p.Lys50Asn,ENST00000492072,;CPA4,splice_region_variant,,ENST00000486598,;CPA4,intron_variant,,ENST00000493259,;CPA4,splice_region_variant,,ENST00000470542,;CPA4,splice_region_variant,,ENST00000474254,;CPA4,splice_region_variant,,ENST00000490117,;CPA4,splice_region_variant,,ENST00000497388,;	T	ENST00000222482	Transcript	missense_variant,splice_region_variant	178/2797	150/1266	50/421	K/N	aaG/aaT	rs759503907	1		1	CPA4	HGNC	HGNC:15740	protein_coding	YES	CCDS5818.1	ENSP00000222482	Q9UI42	A4D1M3	UPI0000048F00	NM_016352.3	deleterious(0.01)		2/11		Gene3D:3.30.70.340,Pfam_domain:PF02244,hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF50,Superfamily_domains:SSF54897																	MODERATE	1	SNV	1			1										PASS		rs759503907	.												T	3	4	12	130298827	130298827	G	T	1	0	0	0	0	1	0	0	0	3586	1014	35	2		2	CPA4	7	130298827	Missense_Mutation	SNP	G	C3L-00144_TP	1414824	130298827	29047146	764	5043											
CPA4	0	.	GRCh38	chr7	130322495	130322495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccgacttacagatccagCtagcgggagcagcatcgact	10	7	10	14	3	0	1	0	0	0	1	3	4	2	2	3	1	5	3	3	1	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1085C>A	p.Ala362Asp	p.A362D	ENST00000222482	11/11	86	68	18	74	73	1	strelka-varscan-mutect	CPA4,missense_variant,p.Ala362Asp,ENST00000222482,NM_016352.3;CPA4,missense_variant,p.Ala329Asp,ENST00000445470,NM_001163446.1;CPA4,missense_variant,p.Ala258Asp,ENST00000493259,;	A	ENST00000222482	Transcript	missense_variant	1113/2797	1085/1266	362/421	A/D	gCt/gAt		1		1	CPA4	HGNC	HGNC:15740	protein_coding	YES	CCDS5818.1	ENSP00000222482	Q9UI42	A4D1M3	UPI0000048F00	NM_016352.3	deleterious(0)		11/11		Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF50,SMART_domains:SM00631,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	130322495	130322495	C	A	1	0	0	0	0	1	0	0	0	3586	797	28	2		2	CPA4	7	130322495	Missense_Mutation	SNP	C	C3L-00144_TP	23668	130322495	29023478	765	5044											
MKLN1	0	.	GRCh38	chr7	131399391	131399391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagctggtgttgaagggtGattttgatgcttgcgaagag	10	12	15	4	1	0	4	0	3	0	1	0	5	0	4	0	2	3	3	0	2	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.661G>T	p.Asp221Tyr	p.D221Y	ENST00000352689	6/18	171	132	39	187	187	0	strelka-varscan-mutect	MKLN1,missense_variant,p.Asp221Tyr,ENST00000352689,NM_001321316.1,NM_001145354.1,NM_013255.4;MKLN1,missense_variant,p.Asp129Tyr,ENST00000421797,;MKLN1,downstream_gene_variant,,ENST00000416992,;MKLN1,downstream_gene_variant,,ENST00000429546,;MKLN1,downstream_gene_variant,,ENST00000446815,;MKLN1,non_coding_transcript_exon_variant,,ENST00000494286,;MKLN1,3_prime_UTR_variant,,ENST00000458153,;MKLN1,non_coding_transcript_exon_variant,,ENST00000494785,;	T	ENST00000352689	Transcript	missense_variant	701/11156	661/2208	221/735	D/Y	Gat/Tat		1		1	MKLN1	HGNC	HGNC:7109	protein_coding	YES	CCDS34754.1	ENSP00000323527	Q9UL63		UPI0000034CB0	NM_001321316.1,NM_001145354.1,NM_013255.4	deleterious(0)		6/18		PROSITE_profiles:PS50897,hmmpanther:PTHR15526,hmmpanther:PTHR15526:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	131399391	131399391	G	T	1	0	0	0	0	1	0	0	0	9570	1290	45	2		2	MKLN1	7	131399391	Missense_Mutation	SNP	G	C3L-00144_TP	1076896	131399391	27946582	766	5045											
PLXNA4	0	.	GRCh38	chr7	132133082	132133082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccacataggagaagatCtctgagagtgcactcatggt	11	10	11	9	0	2	3	1	1	1	3	3	5	2	3	1	2	2	1	1	2	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.5556G>T	p.Glu1852Asp	p.E1852D	ENST00000359827	31/32	190	167	23	144	144	0	strelka-varscan-mutect	PLXNA4,missense_variant,p.Glu1852Asp,ENST00000359827,;PLXNA4,missense_variant,p.Glu1852Asp,ENST00000321063,NM_020911.1;	A	ENST00000359827	Transcript	missense_variant	6519/13786	5556/5685	1852/1894	E/D	gaG/gaT		1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B		deleterious(0.01)		31/32		Pfam_domain:PF08337,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Superfamily_domains:SSF48350																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	132133082	132133082	C	A	1	0	0	0	0	1	0	0	0	12228	912	32	2		2	PLXNA4	7	132133082	Missense_Mutation	SNP	C	C3L-00144_TP	733691	132133082	27212891	767	5046											
WDR91	0	.	GRCh38	chr7	135188486	135188486	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcatagctgaactccaCagagtagacctccccgtagt	11	9	7	14	1	2	3	2	1	0	2	4	3	4	3	4	0	2	3	4	0	4	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1828G>T	p.Val610Leu	p.V610L	ENST00000354475	13/15	232	208	24	245	245	0	strelka-varscan-mutect	WDR91,missense_variant,p.Val610Leu,ENST00000354475,NM_014149.3;WDR91,missense_variant,p.Val575Leu,ENST00000423565,;WDR91,non_coding_transcript_exon_variant,,ENST00000466182,;WDR91,non_coding_transcript_exon_variant,,ENST00000462707,;WDR91,non_coding_transcript_exon_variant,,ENST00000497853,;WDR91,downstream_gene_variant,,ENST00000479698,;WDR91,downstream_gene_variant,,ENST00000474411,;	A	ENST00000354475	Transcript	missense_variant	1860/4588	1828/2244	610/747	V/L	Gtg/Ttg		1		-1	WDR91	HGNC	HGNC:24997	protein_coding	YES	CCDS34758.1	ENSP00000346466	A4D1P6		UPI000006F2DE	NM_014149.3	deleterious(0.02)		13/15		Gene3D:2.130.10.10,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13083,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	135188486	135188486	C	A	1	0	0	0	0	1	0	0	0	17894	478	17	2		2	WDR91	7	135188486	Missense_Mutation	SNP	C	C3L-00144_TP	3055404	135188486	24157487	768	5047											
NUP205	0	.	GRCh38	chr7	135635633	135635633	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagggtctctaatggagctAcagggacatattggaagatt	13	10	13	5	0	1	1	0	0	1	1	2	5	1	4	0	4	2	1	0	4	5	5	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.5112A>G	p.=	p.L1704L	ENST00000285968	36/43	136	119	17	116	115	1	strelka-mutect	NUP205,synonymous_variant,p.=,ENST00000285968,NM_015135.2;NUP205,3_prime_UTR_variant,,ENST00000477620,;NUP205,non_coding_transcript_exon_variant,,ENST00000607647,;NUP205,non_coding_transcript_exon_variant,,ENST00000461255,;	G	ENST00000285968	Transcript	synonymous_variant	5138/6266	5112/6039	1704/2012	L	ctA/ctG		1		1	NUP205	HGNC	HGNC:18658	protein_coding	YES	CCDS34759.1	ENSP00000285968	Q92621		UPI00001D74D8	NM_015135.2			36/43		hmmpanther:PTHR31344,hmmpanther:PTHR31344:SF0																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	135635633	135635633	A	G	1	0	0	0	0	0	0	0	1	10824	378	14	5		5	NUP205	7	135635633	Silent	SNP	A	C3L-00144_TP	447147	135635633	23710340	769	5048											
DGKI	0	.	GRCh38	chr7	137487615	137487615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctaaataaactcacctcctGtaggcggtctatgtacatac	12	11	7	11	1	2	0	1	0	1	0	3	0	3	0	2	2	3	3	2	2	8	6			C3L-00144_TP	C3L-00144_NB	G	G																c.2377C>A	p.Gln793Lys	p.Q793K	ENST00000288490	23/34	200	171	29	166	166	0	strelka-varscan-mutect	DGKI,missense_variant,p.Gln493Lys,ENST00000453654,;DGKI,missense_variant,p.Gln796Lys,ENST00000424189,;DGKI,missense_variant,p.Gln775Lys,ENST00000446122,;DGKI,missense_variant,p.Gln793Lys,ENST00000288490,NM_004717.2;DGKI,missense_variant,p.Gln660Lys,ENST00000614521,;DGKI,non_coding_transcript_exon_variant,,ENST00000460662,;	T	ENST00000288490	Transcript	missense_variant	2378/3895	2377/3198	793/1065	Q/K	Cag/Aag	COSM1144417,COSM5300562,COSM599107	1		-1	DGKI	HGNC	HGNC:2855	protein_coding	YES	CCDS5845.1	ENSP00000288490	O75912		UPI000012DD23	NM_004717.2	tolerated(0.07)		23/34		hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF41											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												T	3	4	12	137487615	137487615	G	T	1	0	0	0	0	1	0	0	0	4277	1391	48	2		2	DGKI	7	137487615	Missense_Mutation	SNP	G	C3L-00144_TP	1851982	137487615	21858358	770	5049											
KIAA1549	0	.	GRCh38	chr7	138871185	138871185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttattgctttccgccActcggtcggctggggagggg	4	13	15	9	3	0	1	0	1	0	0	3	2	1	2	2	6	1	2	2	6	1	4	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.4523T>C	p.Val1508Ala	p.V1508A	ENST00000422774	13/20	253	223	30	212	212	0	strelka-varscan-mutect	KIAA1549,missense_variant,p.Val1508Ala,ENST00000440172,NM_020910.2;KIAA1549,missense_variant,p.Val1508Ala,ENST00000422774,NM_001164665.1;	G	ENST00000422774	Transcript	missense_variant	4572/6283	4523/5853	1508/1950	V/A	gTg/gCg		1		-1	KIAA1549	HGNC	HGNC:22219	protein_coding	YES	CCDS56513.1	ENSP00000416040	Q9HCM3		UPI0001837EBD	NM_001164665.1	deleterious(0.01)		13/20		hmmpanther:PTHR21590:SF4,hmmpanther:PTHR21590,Pfam_domain:PF12877																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	138871185	138871185	A	G	1	0	0	0	0	1	0	0	0	8120	159	6	5		5	KIAA1549	7	138871185	Missense_Mutation	SNP	A	C3L-00144_TP	1383570	138871185	20474788	771	5050											
KIAA1549	0	.	GRCh38	chr7	138894398	138894398	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaagtctagcttgtctgTgcggcatagtttccagtaga	9	13	11	8	1	2	2	0	1	2	1	3	2	3	2	1	1	2	4	1	1	4	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.3976A>T	p.Thr1326Ser	p.T1326S	ENST00000422774	10/20	254	207	47	227	227	0	strelka-varscan-mutect	KIAA1549,missense_variant,p.Thr1326Ser,ENST00000440172,NM_020910.2;KIAA1549,missense_variant,p.Thr1326Ser,ENST00000422774,NM_001164665.1;	A	ENST00000422774	Transcript	missense_variant	4025/6283	3976/5853	1326/1950	T/S	Aca/Tca		1		-1	KIAA1549	HGNC	HGNC:22219	protein_coding	YES	CCDS56513.1	ENSP00000416040	Q9HCM3		UPI0001837EBD	NM_001164665.1	tolerated(0.15)		10/20		hmmpanther:PTHR21590:SF4,hmmpanther:PTHR21590,Pfam_domain:PF12877																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	138894398	138894398	T	A	1	0	0	0	0	1	0	0	0	8120	1696	59	4		4	KIAA1549	7	138894398	Missense_Mutation	SNP	T	C3L-00144_TP	23213	138894398	20451575	772	5051											
KIAA1549	0	.	GRCh38	chr7	138918367	138918367	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagtgcaggccgcacacCaagtgtatggtctgaatgag	11	7	13	10	1	1	2	0	2	1	0	1	2	1	2	2	2	1	4	2	2	3	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1259G>T	p.Trp420Leu	p.W420L	ENST00000422774	2/20	186	151	35	172	172	0	strelka-varscan-mutect	KIAA1549,missense_variant,p.Trp420Leu,ENST00000440172,NM_020910.2;KIAA1549,missense_variant,p.Trp420Leu,ENST00000422774,NM_001164665.1;	A	ENST00000422774	Transcript	missense_variant	1308/6283	1259/5853	420/1950	W/L	tGg/tTg		1		-1	KIAA1549	HGNC	HGNC:22219	protein_coding	YES	CCDS56513.1	ENSP00000416040	Q9HCM3		UPI0001837EBD	NM_001164665.1	tolerated(0.55)		2/20		hmmpanther:PTHR21590:SF4,hmmpanther:PTHR21590																	MODERATE	1	SNV	1			1										PASS		rs35969647	.												A	3	1	12	138918367	138918367	C	A	1	0	0	0	0	1	0	0	0	8120	595	21	2		2	KIAA1549	7	138918367	Missense_Mutation	SNP	C	C3L-00144_TP	23969	138918367	20427606	773	5052											
TTC26	0	.	GRCh38	chr7	139178518	139178518	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgggatgtttttcagagtTacttctataatgatgacatc	10	17	8	6	0	2	3	1	2	1	1	3	4	2	4	0	1	1	2	0	1	3	7	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1162T>G	p.Tyr388Asp	p.Y388D	ENST00000464848	14/18	172	136	36	118	117	1	strelka-varscan-mutect	TTC26,missense_variant,p.Tyr388Asp,ENST00000464848,NM_024926.3;TTC26,missense_variant,p.Tyr388Asp,ENST00000430935,NM_001144920.2;TTC26,missense_variant,p.Tyr357Asp,ENST00000343187,NM_001144923.2,NM_001287513.1;TTC26,missense_variant,p.Tyr281Asp,ENST00000478836,;TTC26,missense_variant,p.Tyr257Asp,ENST00000495038,NM_001287512.1;TTC26,3_prime_UTR_variant,,ENST00000476296,;RP11-365F18.3,upstream_gene_variant,,ENST00000489759,;	G	ENST00000464848	Transcript	missense_variant	1242/4299	1162/1665	388/554	Y/D	Tac/Gac		1		1	TTC26	HGNC	HGNC:21882	protein_coding	YES	CCDS5852.1	ENSP00000419279	A0AVF1		UPI000020FBAD	NM_024926.3	deleterious(0)		14/18		hmmpanther:PTHR14781:SF0,hmmpanther:PTHR14781,Gene3D:1.25.40.10,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	139178518	139178518	T	G	1	0	0	0	0	1	0	0	0	17202	1768	61	5		5	TTC26	7	139178518	Missense_Mutation	SNP	T	C3L-00144_TP	260151	139178518	20167455	774	5053											
KLRG2	0	.	GRCh38	chr7	139480222	139480222	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaacgccagggcccagtaCagggacttcacgtacatggg	11	6	13	11	2	1	1	1	1	0	0	1	2	1	2	2	3	3	2	2	3	3	3	rs754933783		C3L-00144_TP	C3L-00144_NB	C	C																c.783G>T	p.=	p.L261L	ENST00000340940	2/5	186	159	27	190	190	0	strelka-varscan-mutect	KLRG2,synonymous_variant,p.=,ENST00000340940,NM_198508.2;KLRG2,intron_variant,,ENST00000393039,;	A	ENST00000340940	Transcript	synonymous_variant	853/2197	783/1230	261/409	L	ctG/ctT	rs754933783	1		-1	KLRG2	HGNC	HGNC:24778	protein_coding	YES	CCDS5854.1	ENSP00000339356	A4D1S0		UPI00001C0C37	NM_198508.2			2/5		hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF133,Superfamily_domains:SSF56436,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs754933783	.												A	2	1	12	139480222	139480222	C	A	1	0	0	0	0	0	0	0	1	8292	465	17	2		2	KLRG2	7	139480222	Silent	SNP	C	C3L-00144_TP	301704	139480222	19865751	775	5054											
TBXAS1	0	.	GRCh38	chr7	139957667	139957667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataatggtcccactggcccGgattttgcccaataagaacc	11	9	8	13	1	0	1	0	0	0	1	1	2	1	2	4	3	2	0	4	3	4	4	rs568328354		C3L-00144_TP	C3L-00144_NB	G	G																c.863G>T	p.Arg288Leu	p.R288L	ENST00000416849	13/18	439	360	79	392	391	1	strelka-varscan-mutect	TBXAS1,missense_variant,p.Arg288Leu,ENST00000416849,NM_001166253.1;TBXAS1,missense_variant,p.Arg242Leu,ENST00000263552,NM_001130966.2,NM_001061.4;TBXAS1,missense_variant,p.Arg241Leu,ENST00000336425,;TBXAS1,missense_variant,p.Arg174Leu,ENST00000425687,NM_001166254.1;TBXAS1,missense_variant,p.Arg287Leu,ENST00000458722,;TBXAS1,missense_variant,p.Arg241Leu,ENST00000448866,;TBXAS1,missense_variant,p.Arg242Leu,ENST00000414508,NM_030984.3;TBXAS1,missense_variant,p.Arg241Leu,ENST00000411653,;TBXAS1,non_coding_transcript_exon_variant,,ENST00000462275,;TBXAS1,3_prime_UTR_variant,,ENST00000422328,NM_001314028.1;TBXAS1,non_coding_transcript_exon_variant,,ENST00000469630,;TBXAS1,non_coding_transcript_exon_variant,,ENST00000494876,;TBXAS1,downstream_gene_variant,,ENST00000476637,;	T	ENST00000416849	Transcript	missense_variant	1401/2505	863/1743	288/580	R/L	cGg/cTg	rs568328354	1		1	TBXAS1	HGNC	HGNC:11609	protein_coding	YES	CCDS55174.1	ENSP00000389414		A0A0C4DH47	UPI00017A722C	NM_001166253.1	deleterious(0.01)		13/18		hmmpanther:PTHR24301,hmmpanther:PTHR24301:SF3,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264																	MODERATE	1	SNV	5			1										PASS		rs568328354	.												T	3	4	12	139957667	139957667	G	T	1	0	0	0	0	1	0	0	0	16068	1116	39	1		1	TBXAS1	7	139957667	Missense_Mutation	SNP	G	C3L-00144_TP	477445	139957667	19388306	776	5055											
OR9A4	0	.	GRCh38	chr7	141919508	141919508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttctctttggttctttGatccctacaattgtctccaa	6	20	5	10	0	3	1	0	1	3	0	6	1	4	1	2	1	1	2	2	1	3	7	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.633G>T	p.Leu211Phe	p.L211F	ENST00000548136	1/1	286	256	30	260	258	2	strelka-varscan-mutect	OR9A4,missense_variant,p.Leu211Phe,ENST00000548136,NM_001001656.1;MGAM,intron_variant,,ENST00000465654,;MGAM,intron_variant,,ENST00000497554,;	T	ENST00000548136	Transcript	missense_variant	692/1093	633/945	211/314	L/F	ttG/ttT		1		1	OR9A4	HGNC	HGNC:15095	protein_coding	YES	CCDS43661.1	ENSP00000448789	Q8NGU2	A0A126GVB1	UPI0000041D24	NM_001001656.1	deleterious(0.05)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF216,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	12	141919508	141919508	G	T	1	0	0	0	0	1	0	0	0	11316	1281	45	2		2	OR9A4	7	141919508	Missense_Mutation	SNP	G	C3L-00144_TP	1961841	141919508	17426465	777	5056											
MGAM	0	.	GRCh38	chr7	142027642	142027642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagcccttccctcctactgGgcgcttggatttcacctcag	5	11	8	17	1	2	0	2	0	0	0	4	1	4	1	5	2	2	1	5	2	1	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1128G>T	p.Trp376Cys	p.W376C	ENST00000549489	10/48	223	188	35	194	194	0	strelka-varscan-mutect	MGAM,missense_variant,p.Trp376Cys,ENST00000475668,;MGAM,missense_variant,p.Trp376Cys,ENST00000549489,NM_004668.2;MGAM,missense_variant,p.Trp376Cys,ENST00000620571,;MGAM,upstream_gene_variant,,ENST00000495045,;	T	ENST00000549489	Transcript	missense_variant	1223/6525	1128/5574	376/1857	W/C	tgG/tgT		1		1	MGAM	HGNC	HGNC:7043	protein_coding	YES	CCDS47727.1	ENSP00000447378	O43451		UPI000183CB7B	NM_004668.2	deleterious(0)		10/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF63,Pfam_domain:PF01055,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	142027642	142027642	G	T	1	0	0	0	0	1	0	0	0	9499	1241	43	2		2	MGAM	7	142027642	Missense_Mutation	SNP	G	C3L-00144_TP	108134	142027642	17318331	778	5057											
MGAM	0	.	GRCh38	chr7	142065350	142065350	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagagccgtgcaggaggtGacgggacagcgaggggtcgt	9	4	20	8	4	0	2	0	1	0	1	1	5	0	4	1	5	4	2	1	5	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.4500G>C	p.=	p.V1500V	ENST00000549489	38/48	214	187	27	201	201	0	strelka-varscan-mutect	MGAM,synonymous_variant,p.=,ENST00000475668,;MGAM,synonymous_variant,p.=,ENST00000549489,NM_004668.2;MGAM,synonymous_variant,p.=,ENST00000620571,;	C	ENST00000549489	Transcript	synonymous_variant	4595/6525	4500/5574	1500/1857	V	gtG/gtC		1		1	MGAM	HGNC	HGNC:7043	protein_coding	YES	CCDS47727.1	ENSP00000447378	O43451		UPI000183CB7B	NM_004668.2			38/48		Pfam_domain:PF01055,Superfamily_domains:SSF51445																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	12	142065350	142065350	G	C	1	0	0	0	0	0	0	0	1	9499	1277	45	4		4	MGAM	7	142065350	Silent	SNP	G	C3L-00144_TP	37708	142065350	17280623	779	5058											
MGAM	0	.	GRCh38	chr7	142085944	142085944	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatgaaggctgatgggatgCgggtcatcctcattctggtt	7	12	14	8	1	3	2	2	2	1	0	4	3	4	3	1	4	1	3	1	4	1	2	rs762414046		C3L-00144_TP	C3L-00144_NB	C	C																c.6619C>A	p.=	p.R2207R	ENST00000475668	55/71	138	120	18	110	110	0	strelka-varscan-mutect	MGAM,synonymous_variant,p.=,ENST00000475668,;MGAM,intron_variant,,ENST00000549489,NM_004668.2;MGAM,intron_variant,,ENST00000620571,;	A	ENST00000475668	Transcript	synonymous_variant	6673/9172	6619/8262	2207/2753	R	Cgg/Agg	rs762414046,COSM1596852	1		1	MGAM	HGNC	HGNC:7043	protein_coding			ENSP00000417515		E7ER45	UPI0002B832FC				55/71		Pfam_domain:PF01055,Superfamily_domains:SSF51445											0,1						LOW		SNV	5		0,1	1										PASS		rs762414046	.												A	2	1	12	142085944	142085944	C	A	1	0	0	0	0	0	0	0	1	9499	759	27	1		1	MGAM	7	142085944	Silent	SNP	C	C3L-00144_TP	20594	142085944	17260029	780	5059											
MGAM2	0	.	GRCh38	chr7	142137453	142137453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggttacccttcagccagctCctgcgatcacttatcgcacg	8	10	8	15	3	2	0	2	0	0	0	4	1	3	0	3	1	4	3	3	1	2	3	rs560004161		C3L-00144_TP	C3L-00144_NB	C	C																c.868C>A	p.Pro290Thr	p.P290T	ENST00000477922	9/48	99	85	14	91	91	0	strelka-varscan-mutect	MGAM2,missense_variant,p.Pro290Thr,ENST00000477922,NM_001293626.1;MGAM2,missense_variant,p.Pro290Thr,ENST00000550469,;	A	ENST00000477922	Transcript	missense_variant	922/7867	868/7548	290/2515	P/T	Cct/Act	rs560004161,COSM2862677	1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	deleterious(0)		9/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF55,Superfamily_domains:SSF74650											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs560004161	.												A	3	1	12	142137453	142137453	C	A	1	0	0	0	0	1	0	0	0	9500	855	30	2		2	MGAM2	7	142137453	Missense_Mutation	SNP	C	C3L-00144_TP	51509	142137453	17208520	781	5060											
MGAM2	0	.	GRCh38	chr7	142158285	142158285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtgggatgtgcatgagCagttcttatggggacctgga	8	10	15	8	1	1	1	0	1	1	0	1	4	1	4	2	4	2	3	2	4	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2116C>A	p.Gln706Lys	p.Q706K	ENST00000477922	19/48	208	180	28	208	207	1	strelka-varscan-mutect	MGAM2,missense_variant,p.Gln706Lys,ENST00000477922,NM_001293626.1;	A	ENST00000477922	Transcript	missense_variant	2170/7867	2116/7548	706/2515	Q/K	Cag/Aag		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	deleterious(0)		19/48		Pfam_domain:PF01055,Superfamily_domains:SSF51011																	MODERATE	1	SNV	5			1										PASS		rs1331520067	.												A	3	1	12	142158285	142158285	C	A	1	0	0	0	0	1	0	0	0	9500	711	25	2		2	MGAM2	7	142158285	Missense_Mutation	SNP	C	C3L-00144_TP	20832	142158285	17187688	782	5061											
MGAM2	0	.	GRCh38	chr7	142159318	142159318	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaagcatacatacctgAtgccacctggtatgactatg	13	10	9	9	0	0	3	0	3	0	0	0	3	0	3	3	1	4	2	3	1	5	4	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2195A>T	p.Asp732Val	p.D732V	ENST00000477922	20/48	220	195	25	197	197	0	strelka-varscan-mutect	MGAM2,missense_variant,p.Asp732Val,ENST00000477922,NM_001293626.1;	T	ENST00000477922	Transcript	missense_variant	2249/7867	2195/7548	732/2515	D/V	gAt/gTt		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	deleterious(0.01)		20/48		Pfam_domain:PF01055,Superfamily_domains:SSF51011																	MODERATE	1	SNV	5			1										PASS		rs1313498849	.												T	3	4	12	142159318	142159318	A	T	1	0	0	0	0	1	0	0	0	9500	333	12	4		4	MGAM2	7	142159318	Missense_Mutation	SNP	A	C3L-00144_TP	1033	142159318	17186655	783	5062											
MGAM2	0	.	GRCh38	chr7	142197532	142197532	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagggcagcacagttgtcCggccccttctccatgagtga	7	10	12	12	1	1	3	0	3	1	0	3	3	2	3	4	2	1	3	4	2	0	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.4765C>A	p.=	p.R1589R	ENST00000477922	41/48	141	127	14	161	161	0	strelka-varscan-mutect	MGAM2,synonymous_variant,p.=,ENST00000477922,NM_001293626.1;MGAM2,non_coding_transcript_exon_variant,,ENST00000496337,;	A	ENST00000477922	Transcript	synonymous_variant	4819/7867	4765/7548	1589/2515	R	Cgg/Agg		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1			41/48		Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF55,Superfamily_domains:SSF51011																	LOW	1	SNV	5			1										PASS		rs1256930355	.												A	2	1	12	142197532	142197532	C	A	1	0	0	0	0	0	0	0	1	9500	643	23	1		1	MGAM2	7	142197532	Silent	SNP	C	C3L-00144_TP	38214	142197532	17148441	784	5063											
PRSS1	0	.	GRCh38	chr7	142752530	142752530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattaccagcaacatgttctGtgtgggcttccttgagggag	8	12	13	8	0	1	1	0	1	1	0	2	3	2	2	2	2	3	3	2	2	2	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.554G>T	p.Cys185Phe	p.C185F	ENST00000311737	4/5	415	355	60	353	353	0	strelka-varscan-mutect	PRSS1,missense_variant,p.Cys199Phe,ENST00000486171,;PRSS1,missense_variant,p.Cys185Phe,ENST00000612126,;PRSS1,missense_variant,p.Cys185Phe,ENST00000311737,NM_002769.4;PRSS1,missense_variant,p.Cys175Phe,ENST00000619214,;PRSS1,missense_variant,p.Cys135Phe,ENST00000492062,;TRBC2,intron_variant,,ENST00000637077,;TRBC2,intron_variant,,ENST00000610416,;TRBC2,intron_variant,,ENST00000636844,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,;	T	ENST00000311737	Transcript	missense_variant	560/800	554/744	185/247	C/F	tGt/tTt		1		1	PRSS1	HGNC	HGNC:9475	protein_coding	YES	CCDS5872.1	ENSP00000308720	P07477		UPI0000001309	NM_002769.4	deleterious(0)		4/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24264:SF12,hmmpanther:PTHR24264,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	142752530	142752530	G	T	1	0	0	0	0	1	0	0	0	12761	1377	48	2		2	PRSS1	7	142752530	Missense_Mutation	SNP	G	C3L-00144_TP	554998	142752530	16593443	785	5064											
PRSS2	0	.	GRCh38	chr7	142773392	142773392	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctggacaatgacatcctGctgatcaagctctcctcacc	10	10	6	15	0	4	2	2	2	2	0	6	3	5	3	3	1	2	2	3	1	2	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.369G>T	p.=	p.L123L	ENST00000633969	4/6	322	261	61	292	292	0	strelka-varscan-mutect	PRSS2,synonymous_variant,p.=,ENST00000633969,NM_001303414.1;PRSS2,synonymous_variant,p.=,ENST00000632998,;PRSS2,synonymous_variant,p.=,ENST00000632805,;PRSS2,synonymous_variant,p.=,ENST00000539842,NM_002770.3;TRBC2,intron_variant,,ENST00000637077,;TRBC2,intron_variant,,ENST00000610416,;TRBC2,intron_variant,,ENST00000636844,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,downstream_gene_variant,,ENST00000610835,;	T	ENST00000633969	Transcript	synonymous_variant	385/852	369/786	123/261	L	ctG/ctT		1		1	PRSS2	HGNC	HGNC:9483	protein_coding	YES		ENSP00000488437		A6XMV9	UPI0001578AE2	NM_001303414.1			4/6		PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF21,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	142773392	142773392	G	T	1	0	0	0	0	0	0	0	1	12764	1306	46	2		2	PRSS2	7	142773392	Silent	SNP	G	C3L-00144_TP	20862	142773392	16572581	786	5065											
TRPV6	0	.	GRCh38	chr7	142873453	142873453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagggggctcacctgggCcctccacagctcatcccgct	6	6	10	19	1	2	0	2	0	0	0	4	0	4	0	5	3	1	3	5	3	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1903G>T	p.Ala635Ser	p.A635S	ENST00000359396	13/15	132	109	23	130	129	1	strelka-varscan-mutect	TRPV6,missense_variant,p.Ala635Ser,ENST00000359396,NM_018646.5;EPHB6,downstream_gene_variant,,ENST00000619012,;EPHB6,downstream_gene_variant,,ENST00000422643,NM_004445.5;EPHB6,downstream_gene_variant,,ENST00000411471,NM_001280794.2,NM_001280795.2;TRPV6,downstream_gene_variant,,ENST00000436401,;EPHB6,downstream_gene_variant,,ENST00000476059,;TRPV6,downstream_gene_variant,,ENST00000431833,;RP11-114L10.2,upstream_gene_variant,,ENST00000438839,;EPHB6,downstream_gene_variant,,ENST00000617632,;TRPV6,non_coding_transcript_exon_variant,,ENST00000615386,;TRPV6,non_coding_transcript_exon_variant,,ENST00000485138,;EPHB6,downstream_gene_variant,,ENST00000616380,;EPHB6,downstream_gene_variant,,ENST00000614832,;EPHB6,downstream_gene_variant,,ENST00000611578,;EPHB6,downstream_gene_variant,,ENST00000486511,;TRPV6,downstream_gene_variant,,ENST00000619250,;TRPV6,downstream_gene_variant,,ENST00000489123,;TRPV6,downstream_gene_variant,,ENST00000474388,;EPHB6,downstream_gene_variant,,ENST00000471581,;	A	ENST00000359396	Transcript	missense_variant	2029/2928	1903/2298	635/765	A/S	Gcc/Tcc		1		-1	TRPV6	HGNC	HGNC:14006	protein_coding	YES		ENSP00000352358	Q9H1D0		UPI00064546CC	NM_018646.5	tolerated(0.07)		13/15		hmmpanther:PTHR10582:SF25,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	142873453	142873453	C	A	1	0	0	0	0	1	0	0	0	17106	753	26	2		2	TRPV6	7	142873453	Missense_Mutation	SNP	C	C3L-00144_TP	100061	142873453	16472520	787	5066											
TRPV6	0	.	GRCh38	chr7	142874557	142874557	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgaagtacatgacgttgcaCcagcccagcacgagtgcaaa	13	5	11	12	3	0	1	0	1	0	0	0	3	0	1	2	0	5	5	2	0	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1506G>T	p.Trp502Cys	p.W502C	ENST00000359396	11/15	288	255	33	280	280	0	strelka-varscan-mutect	TRPV6,missense_variant,p.Trp502Cys,ENST00000359396,NM_018646.5;TRPV6,missense_variant,p.Trp85Cys,ENST00000436401,;EPHB6,downstream_gene_variant,,ENST00000619012,;EPHB6,downstream_gene_variant,,ENST00000422643,NM_004445.5;EPHB6,downstream_gene_variant,,ENST00000411471,NM_001280794.2,NM_001280795.2;EPHB6,downstream_gene_variant,,ENST00000476059,;TRPV6,downstream_gene_variant,,ENST00000431833,;RP11-114L10.2,upstream_gene_variant,,ENST00000438839,;EPHB6,downstream_gene_variant,,ENST00000617632,;TRPV6,non_coding_transcript_exon_variant,,ENST00000615386,;TRPV6,non_coding_transcript_exon_variant,,ENST00000485138,;TRPV6,non_coding_transcript_exon_variant,,ENST00000619250,;EPHB6,downstream_gene_variant,,ENST00000616380,;EPHB6,downstream_gene_variant,,ENST00000614832,;EPHB6,downstream_gene_variant,,ENST00000611578,;EPHB6,downstream_gene_variant,,ENST00000486511,;TRPV6,downstream_gene_variant,,ENST00000489123,;TRPV6,downstream_gene_variant,,ENST00000474388,;EPHB6,downstream_gene_variant,,ENST00000471581,;	A	ENST00000359396	Transcript	missense_variant	1632/2928	1506/2298	502/765	W/C	tgG/tgT		1		-1	TRPV6	HGNC	HGNC:14006	protein_coding	YES		ENSP00000352358	Q9H1D0		UPI00064546CC	NM_018646.5	deleterious(0)		11/15		hmmpanther:PTHR10582:SF25,hmmpanther:PTHR10582,Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	142874557	142874557	C	A	1	0	0	0	0	1	0	0	0	17106	508	18	2		2	TRPV6	7	142874557	Missense_Mutation	SNP	C	C3L-00144_TP	1104	142874557	16471416	788	5067											
TRPV6	0	.	GRCh38	chr7	142875576	142875576	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggtgaagcagatgatgtaCagcagatatatggcacccag	14	8	12	7	0	0	4	0	2	0	2	0	4	0	4	1	2	3	4	1	2	4	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1134G>C	p.=	p.L378L	ENST00000359396	8/15	74	65	9	67	67	0	strelka-varscan-mutect	TRPV6,synonymous_variant,p.=,ENST00000359396,NM_018646.5;TRPV6,intron_variant,,ENST00000436401,;EPHB6,downstream_gene_variant,,ENST00000619012,;EPHB6,downstream_gene_variant,,ENST00000422643,NM_004445.5;EPHB6,downstream_gene_variant,,ENST00000411471,NM_001280794.2,NM_001280795.2;EPHB6,downstream_gene_variant,,ENST00000476059,;TRPV6,downstream_gene_variant,,ENST00000431833,;RP11-114L10.2,upstream_gene_variant,,ENST00000438839,;EPHB6,downstream_gene_variant,,ENST00000617632,;TRPV6,non_coding_transcript_exon_variant,,ENST00000615386,;TRPV6,non_coding_transcript_exon_variant,,ENST00000485138,;TRPV6,non_coding_transcript_exon_variant,,ENST00000619250,;EPHB6,downstream_gene_variant,,ENST00000616380,;EPHB6,downstream_gene_variant,,ENST00000614832,;EPHB6,downstream_gene_variant,,ENST00000611578,;EPHB6,downstream_gene_variant,,ENST00000486511,;TRPV6,downstream_gene_variant,,ENST00000489123,;TRPV6,downstream_gene_variant,,ENST00000474388,;EPHB6,downstream_gene_variant,,ENST00000471581,;	G	ENST00000359396	Transcript	synonymous_variant	1260/2928	1134/2298	378/765	L	ctG/ctC		1		-1	TRPV6	HGNC	HGNC:14006	protein_coding	YES		ENSP00000352358	Q9H1D0		UPI00064546CC	NM_018646.5			8/15		hmmpanther:PTHR10582:SF25,hmmpanther:PTHR10582,Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	142875576	142875576	C	G	1	0	0	0	0	0	0	0	1	17106	465	17	4		4	TRPV6	7	142875576	Silent	SNP	C	C3L-00144_TP	1019	142875576	16470397	789	5068											
TRPV5	0	.	GRCh38	chr7	142912551	142912551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcccatcatggcgatgaaCaagttgagcatgagcagtgt	11	9	12	9	2	1	3	1	3	0	0	2	4	1	3	1	1	3	3	1	1	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1719G>A	p.=	p.L573L	ENST00000265310	13/15	194	171	23	212	212	0	strelka-varscan-mutect	TRPV5,synonymous_variant,p.=,ENST00000265310,NM_019841.6;TRPV5,synonymous_variant,p.=,ENST00000439304,;	T	ENST00000265310	Transcript	synonymous_variant	2068/2952	1719/2190	573/729	L	ttG/ttA		1		-1	TRPV5	HGNC	HGNC:3145	protein_coding	YES	CCDS5875.1	ENSP00000265310		A0A0A6YY98	UPI0004620D64	NM_019841.6			13/15		Pfam_domain:PF00520,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF11,TIGRFAM_domain:TIGR00870,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	142912551	142912551	C	T	1	0	0	0	0	0	0	0	1	17105	477	17	3		3	TRPV5	7	142912551	Silent	SNP	C	C3L-00144_TP	36975	142912551	16433422	790	5069											
KEL	0	.	GRCh38	chr7	142941256	142941256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttggtaaccaagttacCagagctggcagcggctggag	10	9	13	9	1	1	1	0	0	1	1	1	2	1	2	2	4	4	5	2	4	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2195G>T	p.Trp732Leu	p.W732L	ENST00000355265	19/19	229	197	32	241	240	1	strelka-varscan-mutect	KEL,missense_variant,p.Trp732Leu,ENST00000355265,NM_000420.2;C7orf34,downstream_gene_variant,,ENST00000409607,NM_178829.4;C7orf34,downstream_gene_variant,,ENST00000458732,;KEL,downstream_gene_variant,,ENST00000479768,;KEL,downstream_gene_variant,,ENST00000470850,;KEL,downstream_gene_variant,,ENST00000465697,;KEL,downstream_gene_variant,,ENST00000478969,;	A	ENST00000355265	Transcript	missense_variant	2670/2812	2195/2199	732/732	W/L	tGg/tTg		1		-1	KEL	HGNC	HGNC:6308	protein_coding	YES	CCDS34766.1	ENSP00000347409	P23276	A0A077QP03	UPI000000D923	NM_000420.2	deleterious(0)		19/19		hmmpanther:PTHR11733:SF128,hmmpanther:PTHR11733,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	142941256	142941256	C	A	1	0	0	0	0	1	0	0	0	8062	595	21	2		2	KEL	7	142941256	Missense_Mutation	SNP	C	C3L-00144_TP	28705	142941256	16404717	791	5070											
OR6V1	0	.	GRCh38	chr7	143052771	143052771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatgtgtgtccagctggctgGggctgcctgggcagctcctt	3	12	15	11	0	0	0	0	0	0	0	2	0	2	0	3	4	3	5	3	4	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.431G>T	p.Gly144Val	p.G144V	ENST00000418316	1/1	229	193	36	186	185	1	strelka-varscan-mutect	OR6V1,missense_variant,p.Gly144Val,ENST00000418316,NM_001001667.1;	T	ENST00000418316	Transcript	missense_variant	452/1028	431/942	144/313	G/V	gGg/gTg		1		1	OR6V1	HGNC	HGNC:15090	protein_coding	YES	CCDS47728.1	ENSP00000396085	Q8N148	A0A126GWQ4	UPI0000041C19	NM_001001667.1	tolerated(1)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF10,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	12	143052771	143052771	G	T	1	0	0	0	0	1	0	0	0	11281	1232	43	2		2	OR6V1	7	143052771	Missense_Mutation	SNP	G	C3L-00144_TP	111515	143052771	16293202	792	5071											
CASP2	0	.	GRCh38	chr7	143303841	143303841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaccacgcaggatcccctgGgtgcgaggagagtgatgccg	9	5	16	11	3	0	2	0	1	0	1	1	6	1	3	4	3	3	1	4	3	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1025G>T	p.Gly342Val	p.G342V	ENST00000310447	9/11	402	329	73	363	363	0	strelka-varscan-mutect	CASP2,missense_variant,p.Gly342Val,ENST00000310447,NM_032982.3;CASP2,3_prime_UTR_variant,,ENST00000619992,NM_032983.3;CASP2,non_coding_transcript_exon_variant,,ENST00000493642,;CASP2,3_prime_UTR_variant,,ENST00000350623,;CASP2,non_coding_transcript_exon_variant,,ENST00000472067,;	T	ENST00000310447	Transcript	missense_variant	1266/4225	1025/1359	342/452	G/V	gGg/gTg		1		1	CASP2	HGNC	HGNC:1503	protein_coding	YES	CCDS5879.1	ENSP00000312664	P42575	A0A0S2Z3H1	UPI000020F1E8	NM_032982.3	deleterious(0.03)		9/11		hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF151,Pfam_domain:PF00656,PIRSF_domain:PIRSF038001,Gene3D:3.40.50.1460,SMART_domains:SM00115,Superfamily_domains:SSF52129																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	143303841	143303841	G	T	1	0	0	0	0	1	0	0	0	2371	1232	43	2		2	CASP2	7	143303841	Missense_Mutation	SNP	G	C3L-00144_TP	251070	143303841	16042132	793	5072											
OR2A25	0	.	GRCh38	chr7	144074514	144074514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgctggctgcatgaccCagatgtttctgtttttgagt	5	17	10	9	0	1	3	0	2	1	1	1	3	1	3	2	1	2	5	2	1	0	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.295C>A	p.Gln99Lys	p.Q99K	ENST00000408898	1/1	473	406	67	499	498	1	strelka-varscan-mutect	OR2A25,missense_variant,p.Gln99Lys,ENST00000408898,NM_001004488.1;OR2A41P,upstream_gene_variant,,ENST00000473586,;	A	ENST00000408898	Transcript	missense_variant	333/1014	295/933	99/310	Q/K	Cag/Aag		1		1	OR2A25	HGNC	HGNC:19562	protein_coding	YES	CCDS43669.1	ENSP00000386167	A4D2G3	A0A126GVV5	UPI00002373C5	NM_001004488.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF146,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	12	144074514	144074514	C	A	1	0	0	0	0	1	0	0	0	11055	595	21	2		2	OR2A25	7	144074514	Missense_Mutation	SNP	C	C3L-00144_TP	770673	144074514	15271459	794	5073											
OR2A2	0	.	GRCh38	chr7	144109702	144109702	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatacactcaccctgctgggGaatggggtcatctttgggat	8	12	12	9	0	3	0	2	0	1	0	3	2	3	2	1	5	2	1	1	5	3	3			C3L-00144_TP	C3L-00144_NB	G	G																c.120G>T	p.=	p.G40G	ENST00000408979	1/1	232	191	41	209	209	0	strelka-varscan-mutect	OR2A2,synonymous_variant,p.=,ENST00000408979,NM_001005480.2;OR2A14,synonymous_variant,p.=,ENST00000627593,;	T	ENST00000408979	Transcript	synonymous_variant	189/1051	120/957	40/318	G	ggG/ggT	COSM3635481	1		1	OR2A2	HGNC	HGNC:8230	protein_coding	YES	CCDS43671.1	ENSP00000386209	Q6IF42	A0A126GW45	UPI0000061E70	NM_001005480.2			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF82,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	12	144109702	144109702	G	T	1	0	0	0	0	0	0	0	1	11054	1161	41	2		2	OR2A2	7	144109702	Silent	SNP	G	C3L-00144_TP	35188	144109702	15236271	795	5074											
OR2A2	0	.	GRCh38	chr7	144110028	144110028	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggttctcacgtcctggtCatgtgggtttgccctgtccc	2	14	11	14	1	2	0	2	0	1	0	5	0	4	0	4	3	1	2	4	3	0	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.446C>A	p.Ser149Ter	p.S149*	ENST00000408979	1/1	166	139	27	182	182	0	strelka-varscan-mutect	OR2A2,stop_gained,p.Ser149Ter,ENST00000408979,NM_001005480.2;OR2A14,intron_variant,,ENST00000627593,;	A	ENST00000408979	Transcript	stop_gained	515/1051	446/957	149/318	S/*	tCa/tAa		1		1	OR2A2	HGNC	HGNC:8230	protein_coding	YES	CCDS43671.1	ENSP00000386209	Q6IF42	A0A126GW45	UPI0000061E70	NM_001005480.2			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF82,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	HIGH	1	SNV				1										PASS		.	.												A	4	1	12	144110028	144110028	C	A	1	0	0	0	0	0	1	0	0	11054	838	29	2		2	OR2A2	7	144110028	Nonsense_Mutation	SNP	C	C3L-00144_TP	326	144110028	15235945	796	5075											
CNTNAP2	0	.	GRCh38	chr7	146116892	146116892	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggatgcaggcggctccgCgcgccggctgcggggcagcg	5	3	20	13	7	0	0	0	0	0	0	1	2	1	1	2	6	3	4	2	6	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.16C>A	p.Arg6Ser	p.R6S	ENST00000361727	1/24	88	76	12	102	102	0	strelka-mutect	CNTNAP2,missense_variant,p.Arg6Ser,ENST00000361727,NM_014141.5;CNTNAP2,missense_variant,p.Arg6Ser,ENST00000625365,;CNTNAP2,upstream_gene_variant,,ENST00000637150,;CNTNAP2,upstream_gene_variant,,ENST00000637105,;	A	ENST00000361727	Transcript	missense_variant	534/9896	16/3996	6/1331	R/S	Cgc/Agc		1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	tolerated_low_confidence(0.06)		1/24		PROSITE_profiles:PS51257,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	146116892	146116892	C	A	1	0	0	0	0	1	0	0	0	3428	768	27	1		1	CNTNAP2	7	146116892	Missense_Mutation	SNP	C	C3L-00144_TP	2006864	146116892	13229081	797	5076											
CNTNAP2	0	.	GRCh38	chr7	146774304	146774304	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccacttgtctctggactccCccatgtggctttcagcagct	5	12	9	15	0	2	0	1	0	1	0	4	1	3	1	3	2	2	3	3	2	0	2			C3L-00144_TP	C3L-00144_NB	C	C																c.131C>G	p.Pro44Arg	p.P44R	ENST00000361727	2/24	333	291	42	307	307	0	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Pro44Arg,ENST00000361727,NM_014141.5;CNTNAP2,missense_variant,p.Pro44Arg,ENST00000625365,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637694,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636561,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637150,;CNTNAP2,upstream_gene_variant,,ENST00000636277,;CNTNAP2,upstream_gene_variant,,ENST00000636600,;	G	ENST00000361727	Transcript	missense_variant	649/9896	131/3996	44/1331	P/R	cCc/cGc	COSM396243	1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	deleterious(0)		2/24		Gene3D:2.60.120.260,PROSITE_profiles:PS50022,SMART_domains:SM00231,Superfamily_domains:SSF49785											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	12	146774304	146774304	C	G	1	0	0	0	0	1	0	0	0	3428	623	22	4		4	CNTNAP2	7	146774304	Missense_Mutation	SNP	C	C3L-00144_TP	657412	146774304	12571669	798	5077											
ZNF783	0	.	GRCh38	chr7	149278409	149278409	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattctccaggcctccctccGtatccagagcacctcaccag	8	8	6	19	1	2	1	1	0	1	1	6	1	5	1	7	1	1	2	7	1	1	2	rs746987451		C3L-00144_TP	C3L-00144_NB	G	G																c.684G>T	p.=	p.P228P	ENST00000434415	5/6	182	166	16	184	184	0	strelka-varscan-mutect	ZNF783,synonymous_variant,p.=,ENST00000434415,NM_001195220.1;ZNF783,non_coding_transcript_exon_variant,,ENST00000489518,;ZNF783,synonymous_variant,p.=,ENST00000378052,;ZNF783,synonymous_variant,p.=,ENST00000476295,;ZNF783,5_prime_UTR_variant,,ENST00000481519,;RP4-800G7.3,upstream_gene_variant,,ENST00000605566,;	T	ENST00000434415	Transcript	synonymous_variant	847/4452	684/1641	228/546	P	ccG/ccT	rs746987451,COSM295660	1		1	ZNF783	HGNC	HGNC:27222	protein_coding	YES	CCDS56519.1	ENSP00000410890	Q6ZMS7		UPI0000ED938D	NM_001195220.1			5/6		hmmpanther:PTHR24390:SF40,hmmpanther:PTHR24390											0,1						LOW	1	SNV	5		0,1	1										PASS		rs746987451	.												T	2	4	12	149278409	149278409	G	T	1	0	0	0	0	0	0	0	1	18739	1132	40	1		1	ZNF783	7	149278409	Silent	SNP	G	C3L-00144_TP	2504105	149278409	10067564	799	5078											
SSPO	0	.	GRCh38	chr7	149806810	149806810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccttgccctcggctatGcctgacgcagggccccggga	4	7	15	15	3	0	1	0	1	0	0	2	2	1	2	5	4	2	2	5	4	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.8729G>T	p.Cys2910Phe	p.C2910F	ENST00000378016	58/107	232	195	37	180	180	0	strelka-varscan-mutect	SSPO,missense_variant,p.Cys2910Phe,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,upstream_gene_variant,,ENST00000481772,;	T	ENST00000378016	Transcript	missense_variant	8729/15589	8729/15453	2910/5150	C/F	tGc/tTc		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2	deleterious(0)		58/107		Gene3D:2.10.25.10,Pfam_domain:PF01826,Superfamily_domains:SSF57567																	MODERATE	1	SNV	5			1										PASS		rs1295053014	.												T	3	4	12	149806810	149806810	G	T	1	0	0	0	0	1	0	0	0	15566	1319	46	2		2	SSPO	7	149806810	Missense_Mutation	SNP	G	C3L-00144_TP	528401	149806810	9539163	800	5079											
KCNH2	0	.	GRCh38	chr7	150951532	150951532	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccacactggtgaggcTgctgaaggtgaagtagagcg	11	6	16	8	1	0	4	0	3	0	1	0	5	0	4	1	3	3	3	1	3	4	1			C3L-00144_TP	C3L-00144_NB	T	T																c.1861A>T	p.Ser621Cys	p.S621C	ENST00000262186	7/15	274	229	45	244	244	0	strelka-varscan-mutect	KCNH2,missense_variant,p.Ser621Cys,ENST00000262186,NM_000238.3;KCNH2,missense_variant,p.Ser281Cys,ENST00000330883,NM_172057.2;KCNH2,missense_variant,p.Ser505Cys,ENST00000430723,NM_172056.2;KCNH2,non_coding_transcript_exon_variant,,ENST00000532957,;KCNH2,non_coding_transcript_exon_variant,,ENST00000473610,;KCNH2,non_coding_transcript_exon_variant,,ENST00000461280,;	A	ENST00000262186	Transcript	missense_variant	2263/4286	1861/3480	621/1159	S/C	Agc/Tgc	CM057116	1		-1	KCNH2	HGNC	HGNC:6251	protein_coding	YES	CCDS5910.1	ENSP00000262186	Q12809	A0A090N8Q0	UPI0000062255	NM_000238.3	deleterious(0)		7/15		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR01463,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF506,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	150951532	150951532	T	A	1	0	0	0	0	1	0	0	0	7948	1580	55	4		4	KCNH2	7	150951532	Missense_Mutation	SNP	T	C3L-00144_TP	1144722	150951532	8394441	801	5080											
NOS3	0	.	GRCh38	chr7	150998966	150998966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctgcattcagcacggctgGaccccaggaaacggtcgctt	8	8	11	14	3	2	0	1	0	1	0	3	2	2	2	2	4	3	4	2	4	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.837G>T	p.Trp279Cys	p.W279C	ENST00000297494	8/27	125	110	15	94	94	0	strelka-varscan-mutect	NOS3,missense_variant,p.Trp279Cys,ENST00000297494,NM_000603.4;NOS3,missense_variant,p.Trp73Cys,ENST00000461406,;NOS3,missense_variant,p.Trp279Cys,ENST00000484524,NM_001160111.1;NOS3,missense_variant,p.Trp279Cys,ENST00000467517,NM_001160109.1,NM_001160110.1;NOS3,upstream_gene_variant,,ENST00000460603,;	T	ENST00000297494	Transcript	missense_variant	1194/4388	837/3612	279/1203	W/C	tgG/tgT		1		1	NOS3	HGNC	HGNC:7876	protein_coding	YES	CCDS5912.1	ENSP00000297494	P29474		UPI000013E417	NM_000603.4	deleterious(0)		8/27		Pfam_domain:PF02898,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	150998966	150998966	G	T	1	0	0	0	0	1	0	0	0	10589	1183	41	2		2	NOS3	7	150998966	Missense_Mutation	SNP	G	C3L-00144_TP	47434	150998966	8347007	802	5081											
ATG9B	0	.	GRCh38	chr7	151018345	151018345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtaggcgcggtccctgccGccggggccgggctcctccgg	1	5	18	17	7	0	0	0	0	0	0	3	0	3	0	6	7	1	2	6	7	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1821C>T	p.=	p.G607G	ENST00000605952	7/17	35	26	9	30	30	0	strelka-varscan-mutect	ATG9B,synonymous_variant,p.=,ENST00000469530,NM_173681.5;NOS3,downstream_gene_variant,,ENST00000297494,NM_000603.4;NOS3,downstream_gene_variant,,ENST00000461406,;ATG9B,non_coding_transcript_exon_variant,,ENST00000617967,;ATG9B,non_coding_transcript_exon_variant,,ENST00000611177,;ATG9B,downstream_gene_variant,,ENST00000473409,;NOS3,downstream_gene_variant,,ENST00000477227,;NOS3,downstream_gene_variant,,ENST00000468293,;ATG9B,upstream_gene_variant,,ENST00000476282,;ATG9B,downstream_gene_variant,,ENST00000466157,;ATG9B,synonymous_variant,p.=,ENST00000605952,;ATG9B,upstream_gene_variant,,ENST00000404733,;ATG9B,downstream_gene_variant,,ENST00000473134,;ATG9B,upstream_gene_variant,,ENST00000471797,;NOS3,downstream_gene_variant,,ENST00000475454,;	A	ENST00000605952	Transcript	synonymous_variant,NMD_transcript_variant	1897/4572	1821/2775	607/924	G	ggC/ggT		1		-1	ATG9B	HGNC	HGNC:21899	nonsense_mediated_decay	YES		ENSP00000475737	Q674R7		UPI00004286C0				7/17		hmmpanther:PTHR13038:SF14,hmmpanther:PTHR13038,Pfam_domain:PF04109																	LOW		SNV	1			1										PASS		rs1326616364	.												A	2	1	12	151018345	151018345	G	A	1	0	0	0	0	0	0	0	1	1255	1074	38	1		1	ATG9B	7	151018345	Silent	SNP	G	C3L-00144_TP	19379	151018345	8327628	803	5082											
NCAPG2	0	.	GRCh38	chr7	158693492	158693492	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgaaaggatcagaggcCtctttctgtaacataaatag	14	10	10	7	0	3	2	1	1	2	1	3	3	3	3	1	3	1	2	1	3	5	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.84G>A	p.=	p.E28E	ENST00000409339	3/28	128	105	23	115	115	0	strelka-varscan-mutect	NCAPG2,synonymous_variant,p.=,ENST00000409339,NM_001281933.1;NCAPG2,synonymous_variant,p.=,ENST00000409423,NM_001281932.1;NCAPG2,synonymous_variant,p.=,ENST00000356309,NM_017760.6;NCAPG2,upstream_gene_variant,,ENST00000441982,;NCAPG2,non_coding_transcript_exon_variant,,ENST00000621338,;NCAPG2,synonymous_variant,p.=,ENST00000432615,;NCAPG2,upstream_gene_variant,,ENST00000467785,;	T	ENST00000409339	Transcript	synonymous_variant	198/5253	84/3471	28/1156	E	gaG/gaA		1		-1	NCAPG2	HGNC	HGNC:21904	protein_coding	YES	CCDS64816.1	ENSP00000387007	Q86XI2		UPI00001A9CF1	NM_001281933.1			3/28		hmmpanther:PTHR16199,hmmpanther:PTHR16199:SF4																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	158693492	158693492	C	T	1	0	0	0	0	0	0	0	1	10224	695	24	3		3	NCAPG2	7	158693492	Silent	SNP	C	C3L-00144_TP	7675147	158693492	652481	804	5083											
ARHGEF10	0	.	GRCh38	chr8	1880116	1880116	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagatttgatggcaagcacGgtgggcgtggtggagattca	10	9	17	5	2	1	3	1	1	0	2	1	5	1	3	0	5	1	2	0	5	1	2	rs758139509		C3L-00144_TP	C3L-00144_NB	G	G																c.987G>T	p.=	p.T329T	ENST00000518288	10/30	365	324	41	273	273	0	strelka-varscan-mutect	ARHGEF10,synonymous_variant,p.=,ENST00000518288,NM_001308153.1;ARHGEF10,synonymous_variant,p.=,ENST00000349830,NM_014629.2;ARHGEF10,synonymous_variant,p.=,ENST00000398564,;ARHGEF10,intron_variant,,ENST00000520359,NM_001308152.1;ARHGEF10,intron_variant,,ENST00000398560,;ARHGEF10,upstream_gene_variant,,ENST00000522435,;KBTBD11-OT1,3_prime_UTR_variant,,ENST00000635855,;KBTBD11-OT1,3_prime_UTR_variant,,ENST00000635773,;ARHGEF10,intron_variant,,ENST00000523711,;ARHGEF10,intron_variant,,ENST00000520972,;	T	ENST00000518288	Transcript	synonymous_variant	1150/5648	987/4107	329/1368	T	acG/acT	rs758139509	1		1	ARHGEF10	HGNC	HGNC:14103	protein_coding	YES	CCDS78296.1	ENSP00000431012	O15013		UPI0001E8F10F	NM_001308153.1			10/30		hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF14																	LOW	1	SNV	1			1										PASS		rs758139509	.												T	2	4	12	1880116	1880116	G	T	1	0	0	0	0	0	0	0	1	1024	1103	39	1		1	ARHGEF10	8	1880116	Silent	SNP	G	C3L-00144_TP		1880116	143258520	805	5084											
MYOM2	0	.	GRCh38	chr8	2096338	2096338	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgaaattcagtggtggCtcgcccatcctgggctacta	7	10	11	13	2	1	0	1	0	0	0	4	1	3	0	3	3	1	2	3	3	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2217C>A	p.=	p.G739G	ENST00000262113	18/37	210	185	25	196	196	0	strelka-varscan-mutect	MYOM2,synonymous_variant,p.=,ENST00000262113,NM_003970.3;MYOM2,synonymous_variant,p.=,ENST00000523438,;MYOM2,upstream_gene_variant,,ENST00000518203,;MYOM2,downstream_gene_variant,,ENST00000518803,;MYOM2,upstream_gene_variant,,ENST00000519372,;	A	ENST00000262113	Transcript	synonymous_variant	2358/5014	2217/4398	739/1465	G	ggC/ggA		1		1	MYOM2	HGNC	HGNC:7614	protein_coding	YES	CCDS5957.1	ENSP00000262113	P54296		UPI000442D01B	NM_003970.3			18/37		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265,Prints_domain:PR00014																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	2096338	2096338	C	A	1	0	0	0	0	0	0	0	1	10093	784	28	2		2	MYOM2	8	2096338	Silent	SNP	C	C3L-00144_TP	216222	2096338	143042298	806	5085											
CSMD1	0	.	GRCh38	chr8	2998071	2998071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacactgggctcgagacaCgccctgcagcaaatagcccg	10	4	11	16	4	0	1	0	0	0	1	1	3	0	1	3	1	3	3	3	1	2	1	rs371234513		C3L-00144_TP	C3L-00144_NB	C	C																c.8320G>T	p.Val2774Leu	p.V2774L	ENST00000520002	55/71	215	183	32	192	192	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Val2635Leu,ENST00000537824,;CSMD1,missense_variant,p.Val2191Leu,ENST00000335551,;CSMD1,missense_variant,p.Val2774Leu,ENST00000520002,;CSMD1,missense_variant,p.Val2774Leu,ENST00000602557,;CSMD1,missense_variant,p.Val2773Leu,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Val2716Leu,ENST00000400186,;CSMD1,missense_variant,p.Val2716Leu,ENST00000602723,;CSMD1,downstream_gene_variant,,ENST00000519623,;	A	ENST00000520002	Transcript	missense_variant	8876/11740	8320/10698	2774/3565	V/L	Gtg/Ttg	rs371234513,COSM3719397,COSM3719398	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		tolerated(0.16)		55/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs371234513	.												A	3	1	12	2998071	2998071	C	A	1	0	0	0	0	1	0	0	0	3745	536	19	1		1	CSMD1	8	2998071	Missense_Mutation	SNP	C	C3L-00144_TP	901733	2998071	142140565	807	5086											
CSMD1	0	.	GRCh38	chr8	3000027	3000027	+	Frame_Shift_Del	DEL	G	G	-																															cctcacggaagttcccacaaGccggaaaccaggattgcact																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.8137delC	p.Val2714TrpfsTer5	p.V2714Wfs*5	ENST00000520002	54/71	186	162	24	221	221	0	sindel-varindel-pindel	CSMD1,frameshift_variant,p.Val2575TrpfsTer5,ENST00000537824,;CSMD1,frameshift_variant,p.Val2131TrpfsTer5,ENST00000335551,;CSMD1,frameshift_variant,p.Val2714TrpfsTer5,ENST00000520002,;CSMD1,frameshift_variant,p.Val2714TrpfsTer5,ENST00000602557,;CSMD1,frameshift_variant,p.Val2713TrpfsTer5,ENST00000635120,NM_033225.5;CSMD1,frameshift_variant,p.Val2656TrpfsTer5,ENST00000400186,;CSMD1,frameshift_variant,p.Val2656TrpfsTer5,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000519623,;	-	ENST00000520002	Transcript	frameshift_variant	8693/11740	8137/10698	2713/3565	L/X	Ctt/tt		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB				54/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	12	3000027	3000027	G	-	1	0	1	0	1	0	0	0	0	3745	971	34	0		0	CSMD1	8	3000027	Frame_Shift_Del	DEL	G	C3L-00144_TP	1956	3000027	142138609	808	5087											
CSMD1	0	.	GRCh38	chr8	3052579	3052579	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcatagaccactttacTgtccaaagtgaactcgttcc	12	12	5	12	1	1	2	1	1	0	1	4	2	3	2	3	0	2	1	3	0	4	5	rs573086063		C3L-00144_TP	C3L-00144_NB	T	T																c.7546A>T	p.Ser2516Cys	p.S2516C	ENST00000520002	51/71	140	126	14	108	108	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Ser2377Cys,ENST00000537824,;CSMD1,missense_variant,p.Ser1933Cys,ENST00000335551,;CSMD1,missense_variant,p.Ser2516Cys,ENST00000520002,;CSMD1,missense_variant,p.Ser2516Cys,ENST00000602557,;CSMD1,missense_variant,p.Ser2515Cys,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Ser2516Cys,ENST00000400186,;CSMD1,missense_variant,p.Ser2516Cys,ENST00000602723,;	A	ENST00000520002	Transcript	missense_variant	8102/11740	7546/10698	2516/3565	S/C	Agt/Tgt	rs573086063	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0)		51/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		rs573086063	.												A	3	1	12	3052579	3052579	T	A	1	0	0	0	0	1	0	0	0	3745	1580	55	4		4	CSMD1	8	3052579	Missense_Mutation	SNP	T	C3L-00144_TP	52552	3052579	142086057	809	5088											
CSMD1	0	.	GRCh38	chr8	3108626	3108626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaaattgaggacaaagaagCctccatttgaaaagtcgctg	15	8	11	7	1	0	3	0	2	0	1	2	5	1	5	2	2	1	1	2	2	5	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.6734G>A	p.Gly2245Asp	p.G2245D	ENST00000520002	45/71	158	141	17	135	135	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Gly2106Asp,ENST00000537824,;CSMD1,missense_variant,p.Gly1725Asp,ENST00000335551,;CSMD1,missense_variant,p.Gly2245Asp,ENST00000520002,;CSMD1,missense_variant,p.Gly2245Asp,ENST00000602557,;CSMD1,missense_variant,p.Gly2244Asp,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Gly2245Asp,ENST00000400186,;CSMD1,missense_variant,p.Gly2245Asp,ENST00000602723,;CSMD1,downstream_gene_variant,,ENST00000520561,;CSMD1,upstream_gene_variant,,ENST00000523062,;	T	ENST00000520002	Transcript	missense_variant	7290/11740	6734/10698	2245/3565	G/D	gGc/gAc		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0)		45/71		PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	3108626	3108626	C	T	1	0	0	0	0	1	0	0	0	3745	739	26	3		3	CSMD1	8	3108626	Missense_Mutation	SNP	C	C3L-00144_TP	56047	3108626	142030010	810	5089											
XKR5	0	.	GRCh38	chr8	6811852	6811852	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagggacaccttcaaacgcAgagctgttctctaaggttga	11	11	10	9	1	2	2	1	1	1	1	3	3	2	3	1	2	2	4	1	2	3	5	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1407T>C	p.=	p.S469S	ENST00000618742	7/7	365	303	62	261	261	0	strelka-varscan-mutect	XKR5,synonymous_variant,p.=,ENST00000618742,NM_207411.4,NM_001289973.1;XKR5,3_prime_UTR_variant,,ENST00000618990,;	G	ENST00000618742	Transcript	synonymous_variant	1558/4893	1407/2061	469/686	S	tcT/tcC		1		-1	XKR5	HGNC	HGNC:20782	protein_coding	YES		ENSP00000483879		A0A087X143	UPI0000EE786F	NM_207411.4,NM_001289973.1			7/7		hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF21																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	6811852	6811852	A	G	1	0	0	0	0	0	0	0	1	17993	175	7	5		5	XKR5	8	6811852	Silent	SNP	A	C3L-00144_TP	3703226	6811852	138326784	811	5090											
DEFB106A	0	.	GRCh38	chr8	7828867	7828867	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgcaagaacaattgcGggaaaaatgaagaacttatt	18	8	10	5	1	0	3	0	1	0	2	0	5	0	5	0	2	4	1	0	2	8	3	rs755413890		C3L-00144_TP	C3L-00144_NB	G	G																c.112G>C	p.Gly38Arg	p.G38R	ENST00000335186	2/2	100	86	14	104	104	0	strelka-varscan-mutect	DEFB106A,missense_variant,p.Gly38Arg,ENST00000335186,NM_152251.3;DEFB105A,upstream_gene_variant,,ENST00000334773,NM_152250.2;	C	ENST00000335186	Transcript	missense_variant	117/303	112/198	38/65	G/R	Ggg/Cgg	rs755413890	1		1	DEFB106A	HGNC	HGNC:18088	protein_coding	YES	CCDS34833.1	ENSP00000335307	Q8N104		UPI0000128D8F	NM_152251.3	tolerated(0.62)		2/2		hmmpanther:PTHR15001:SF22,hmmpanther:PTHR15001,Pfam_domain:PF13841,PD692757																	MODERATE	1	SNV	1			1										PASS		rs755413890	.												C	3	2	12	7828867	7828867	G	C	1	0	0	0	0	1	0	0	0	4199	1116	39	4		4	DEFB106A	8	7828867	Missense_Mutation	SNP	G	C3L-00144_TP	1017015	7828867	137309769	812	5091											
SGK223	0	.	GRCh38	chr8	8376912	8376912	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggccctcgtggccactgCacccccactgcagagtcagg	8	5	11	17	1	1	1	1	0	0	1	2	1	1	1	4	3	2	2	4	3	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1497G>T	p.=	p.V499V	ENST00000615670	3/6	100	75	25	95	95	0	strelka-varscan-mutect	SGK223,synonymous_variant,p.=,ENST00000615670,;SGK223,synonymous_variant,p.=,ENST00000622241,NM_001080826.2;	A	ENST00000615670	Transcript	synonymous_variant	1762/4903	1497/4221	499/1406	V	gtG/gtT		1		-1	SGK223	Clone_based_vega_gene		protein_coding	YES	CCDS43706.1	ENSP00000481109	Q86YV5		UPI0003EAF98F				3/6		hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972																	LOW	1	SNV	5			1										PASS		rs1352434266	.												A	2	1	12	8376912	8376912	C	A	1	0	0	0	0	0	0	0	1	14469	697	25	2		2	SGK223	8	8376912	Silent	SNP	C	C3L-00144_TP	548045	8376912	136761724	813	5092											
RP1L1	0	.	GRCh38	chr8	10609478	10609478	+	Missense_Mutation	SNP	C	C	A																															aggccccagcgtgctcggagCtcagccaccgcactggcaag																								rs115884793		C3L-00144_TP	C3L-00144_NB	C	C																c.4620G>T	p.Glu1540Asp	p.E1540D	ENST00000382483	4/4	111	93	18	78	78	0	strelka-varscan-mutect	RP1L1,missense_variant,p.Glu1540Asp,ENST00000382483,NM_178857.5;	A	ENST00000382483	Transcript	missense_variant	4844/7973	4620/7203	1540/2400	E/D	gaG/gaT	rs115884793	1		-1	RP1L1	HGNC	HGNC:15946	protein_coding	YES	CCDS43708.1	ENSP00000371923		A6NKC6	UPI00001AF9CC	NM_178857.5	deleterious(0.01)		4/4		hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF3																	MODERATE	1	SNV	1			1										PASS		rs115884793	.												A	3	1	12	10609478	10609478	C	A	1	0	0	0	0	1	0	0	0	13773	796	28	2		2	RP1L1	8	10609478	Missense_Mutation	SNP	C	C3L-00144_TP	2232566	10609478	134529158	814	5093	119	2									
RP1L1	0	.	GRCh38	chr8	10609480	10609480	+	Nonsense_Mutation	SNP	C	C	A																															gccccagcgtgctcggagctCagccaccgcactggcaaggt																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.4618G>T	p.Glu1540Ter	p.E1540*	ENST00000382483	4/4	111	94	17	75	75	0	strelka-varscan-mutect	RP1L1,stop_gained,p.Glu1540Ter,ENST00000382483,NM_178857.5;	A	ENST00000382483	Transcript	stop_gained	4842/7973	4618/7203	1540/2400	E/*	Gag/Tag		1		-1	RP1L1	HGNC	HGNC:15946	protein_coding	YES	CCDS43708.1	ENSP00000371923		A6NKC6	UPI00001AF9CC	NM_178857.5			4/4		hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF3																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	10609480	10609480	C	A	1	0	0	0	0	0	1	0	0	13773	835	29	2		2	RP1L1	8	10609480	Nonsense_Mutation	SNP	C	C3L-00144_TP	2	10609480	134529156	815	5094	119	2									
XKR6	0	.	GRCh38	chr8	10898894	10898894	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcacccaagccagggacatCagggaagtcacagaggagac	15	2	13	11	0	2	2	2	0	0	2	2	5	2	4	2	3	2	1	2	3	2	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.984G>C	p.=	p.L328L	ENST00000416569	3/3	64	50	14	85	85	0	strelka-varscan-mutect	XKR6,synonymous_variant,p.=,ENST00000416569,NM_173683.3;XKR6,synonymous_variant,p.=,ENST00000382461,;	G	ENST00000416569	Transcript	synonymous_variant	1011/3382	984/1926	328/641	L	ctG/ctC		1		-1	XKR6	HGNC	HGNC:27806	protein_coding	YES	CCDS5978.2	ENSP00000416707	Q5GH73		UPI00004C7A9D	NM_173683.3			3/3		Pfam_domain:PF09815,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF7																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	10898894	10898894	C	G	1	0	0	0	0	0	0	0	1	17994	813	29	4		4	XKR6	8	10898894	Silent	SNP	C	C3L-00144_TP	289414	10898894	134239742	816	5095											
XKR6	0	.	GRCh38	chr8	10924661	10924661	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcggcgctgttcttctGgagcatgatgtagagctgta	6	13	14	8	2	3	2	0	1	3	1	4	3	3	3	0	3	2	6	0	3	2	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.934C>T	p.Gln312Ter	p.Q312*	ENST00000416569	2/3	86	72	14	73	73	0	strelka-varscan-mutect	XKR6,stop_gained,p.Gln312Ter,ENST00000416569,NM_173683.3;XKR6,stop_gained,p.Gln89Ter,ENST00000382461,;	A	ENST00000416569	Transcript	stop_gained	961/3382	934/1926	312/641	Q/*	Cag/Tag		1		-1	XKR6	HGNC	HGNC:27806	protein_coding	YES	CCDS5978.2	ENSP00000416707	Q5GH73		UPI00004C7A9D	NM_173683.3			2/3		Pfam_domain:PF09815,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF7																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	10924661	10924661	G	A	1	0	0	0	0	0	1	0	0	17994	1357	47	3		3	XKR6	8	10924661	Nonsense_Mutation	SNP	G	C3L-00144_TP	25767	10924661	134213975	817	5096											
BLK	0	.	GRCh38	chr8	11556705	11556705	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccattaagacgctgaaggagGgaaccatgtctccagaagcc	13	6	11	11	1	1	3	0	1	1	2	2	5	1	5	4	2	2	1	4	2	4	1	rs538418869		C3L-00144_TP	C3L-00144_NB	G	G																c.820G>T	p.Gly274Ter	p.G274*	ENST00000259089	9/13	372	300	72	373	372	1	strelka-varscan-mutect	BLK,stop_gained,p.Gly274Ter,ENST00000259089,NM_001715.2;BLK,stop_gained,p.Gly203Ter,ENST00000529894,;RP11-148O21.6,upstream_gene_variant,,ENST00000602626,;RP11-148O21.4,intron_variant,,ENST00000528629,;RP11-148O21.2,downstream_gene_variant,,ENST00000533322,;RP11-148O21.3,upstream_gene_variant,,ENST00000527922,;BLK,non_coding_transcript_exon_variant,,ENST00000526778,;BLK,upstream_gene_variant,,ENST00000526097,;	T	ENST00000259089	Transcript	stop_gained	1412/2606	820/1518	274/505	G/*	Gga/Tga	rs538418869,COSM3644423	1		1	BLK	HGNC	HGNC:1057	protein_coding	YES	CCDS5982.1	ENSP00000259089	P51451		UPI000006EA28	NM_001715.2			9/13		Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF181,SMART_domains:SM00219,Superfamily_domains:SSF56112											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs538418869	.												T	4	4	12	11556705	11556705	G	T	1	0	0	0	0	0	1	0	0	1596	1233	43	2		2	BLK	8	11556705	Nonsense_Mutation	SNP	G	C3L-00144_TP	632044	11556705	133581931	818	5097											
MTMR7	0	.	GRCh38	chr8	17361230	17361230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgctctctttcttctttatCcagcatggggttgaatgaaa	8	17	8	8	0	3	2	0	2	3	0	5	2	4	2	1	2	2	3	1	2	3	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.355G>T	p.Asp119Tyr	p.D119Y	ENST00000180173	4/14	290	244	46	216	216	0	strelka-varscan-mutect	MTMR7,missense_variant,p.Asp119Tyr,ENST00000180173,NM_004686.4;MTMR7,missense_variant,p.Asp119Tyr,ENST00000521857,;MTMR7,intron_variant,,ENST00000517317,;	A	ENST00000180173	Transcript	missense_variant	390/3850	355/1983	119/660	D/Y	Gat/Tat		1		-1	MTMR7	HGNC	HGNC:7454	protein_coding	YES	CCDS34851.1	ENSP00000180173	Q9Y216		UPI00004DFD27	NM_004686.4	deleterious(0)		4/14		hmmpanther:PTHR10807:SF35,hmmpanther:PTHR10807,Pfam_domain:PF06602																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	17361230	17361230	C	A	1	0	0	0	0	1	0	0	0	9935	855	30	2		2	MTMR7	8	17361230	Missense_Mutation	SNP	C	C3L-00144_TP	5804525	17361230	127777406	819	5098											
PSD3	0	.	GRCh38	chr8	18572528	18572528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactatcaagatgattacCtgagacagttttgttgtagt	12	14	9	6	0	1	3	1	2	0	2	1	4	1	3	1	0	2	4	1	0	4	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2784G>T	p.Gln928His	p.Q928H	ENST00000327040	14/16	101	85	16	90	90	0	strelka-varscan-mutect	PSD3,missense_variant,p.Gln929His,ENST00000440756,;PSD3,missense_variant,p.Gln928His,ENST00000327040,NM_015310.3;PSD3,missense_variant,p.Gln863His,ENST00000523619,;PSD3,missense_variant,p.Gln394His,ENST00000286485,NM_206909.2;PSD3,missense_variant,p.Gln257His,ENST00000428502,;PSD3,intron_variant,,ENST00000614430,;PSD3,intron_variant,,ENST00000615573,;PSD3,splice_region_variant,,ENST00000521878,;PSD3,splice_region_variant,,ENST00000518315,;	A	ENST00000327040	Transcript	missense_variant,splice_region_variant	2887/11689	2784/3144	928/1047	Q/H	caG/caT		1		-1	PSD3	HGNC	HGNC:19093	protein_coding	YES	CCDS43720.1	ENSP00000324127	Q9NYI0		UPI0000210A46	NM_015310.3	deleterious(0.01)		14/16		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF106,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	18572528	18572528	C	A	1	0	0	0	0	1	0	0	0	12799	695	24	2		2	PSD3	8	18572528	Missense_Mutation	SNP	C	C3L-00144_TP	1211298	18572528	126566108	820	5099											
NPM2	0	.	GRCh38	chr8	22034182	22034182	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaagaggaagatgaTgaggatgaggatgcagatat	17	6	17	1	0	0	7	0	3	0	4	0	12	0	11	0	4	1	1	0	4	4	1	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.438T>A	p.Asp146Glu	p.D146E	ENST00000397940	6/9	140	120	20	126	126	0	strelka-varscan-mutect	NPM2,missense_variant,p.Asp146Glu,ENST00000397940,;NPM2,missense_variant,p.Asp146Glu,ENST00000521157,;NPM2,missense_variant,p.Asp146Glu,ENST00000518119,NM_001286680.1;NPM2,missense_variant,p.Asp146Glu,ENST00000289820,NM_182795.1;NPM2,missense_variant,p.Asp146Glu,ENST00000621538,;NPM2,intron_variant,,ENST00000381530,NM_001286681.1;NPM2,intron_variant,,ENST00000615914,;NPM2,downstream_gene_variant,,ENST00000520125,;NPM2,downstream_gene_variant,,ENST00000522813,;NPM2,downstream_gene_variant,,ENST00000520180,;NPM2,non_coding_transcript_exon_variant,,ENST00000520456,;NPM2,non_coding_transcript_exon_variant,,ENST00000522953,;NPM2,upstream_gene_variant,,ENST00000519373,;NPM2,upstream_gene_variant,,ENST00000524322,;	A	ENST00000397940	Transcript	missense_variant	1453/1874	438/645	146/214	D/E	gaT/gaA		1		1	NPM2	HGNC	HGNC:7930	protein_coding	YES	CCDS6018.1	ENSP00000381032	Q86SE8		UPI000019A1BE		tolerated(0.9)		6/9		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03066,hmmpanther:PTHR22747,hmmpanther:PTHR22747:SF14,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	22034182	22034182	T	A	1	0	0	0	0	1	0	0	0	10644	1461	51	4		4	NPM2	8	22034182	Missense_Mutation	SNP	T	C3L-00144_TP	3461654	22034182	123104454	821	5100											
PIWIL2	0	.	GRCh38	chr8	22281397	22281397	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagaggcattttaggtcgaGgcttgtctgctaatctggta	8	14	13	6	1	2	1	0	0	2	1	3	2	2	1	0	4	1	5	0	4	4	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.307G>C	p.Gly103Arg	p.G103R	ENST00000356766	4/23	281	261	20	252	252	0	strelka-varscan-mutect	PIWIL2,missense_variant,p.Gly103Arg,ENST00000356766,NM_018068.3;PIWIL2,missense_variant,p.Gly103Arg,ENST00000521356,;PIWIL2,missense_variant,p.Gly103Arg,ENST00000454009,NM_001135721.1;PIWIL2,missense_variant,p.Gly103Arg,ENST00000611073,;	C	ENST00000356766	Transcript	missense_variant	455/5128	307/2922	103/973	G/R	Ggc/Cgc		1		1	PIWIL2	HGNC	HGNC:17644	protein_coding	YES	CCDS6029.1	ENSP00000349208	Q8TC59	W0HK13	UPI000006E98E	NM_018068.3	deleterious_low_confidence(0.01)		4/23																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	22281397	22281397	G	C	1	0	0	0	0	1	0	0	0	12054	1000	35	4		4	PIWIL2	8	22281397	Missense_Mutation	SNP	G	C3L-00144_TP	247215	22281397	122857239	822	5101											
EGR3	0	.	GRCh38	chr8	22692344	22692344	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcacatggctccatccCgggtgggaggctgagggagt	6	6	17	12	3	0	1	0	1	0	0	2	3	2	3	3	5	0	3	3	5	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.165G>T	p.=	p.P55P	ENST00000519492	2/3	83	70	13	70	70	0	strelka-mutect	EGR3,synonymous_variant,p.=,ENST00000519492,;EGR3,5_prime_UTR_variant,,ENST00000522910,NM_001199880.1;EGR3,intron_variant,,ENST00000317216,NM_004430.2;RP11-459E5.1,intron_variant,,ENST00000523627,;EGR3,intron_variant,,ENST00000524088,;EGR3,upstream_gene_variant,,ENST00000518773,;	A	ENST00000519492	Transcript	synonymous_variant	399/1500	165/216	55/71	P	ccG/ccT		1		-1	EGR3	HGNC	HGNC:3240	protein_coding			ENSP00000429370		E5RIM5	UPI0001E8EF26				2/3																			LOW		SNV	5			1										PASS		.	.												A	2	1	12	22692344	22692344	C	A	1	0	0	0	0	0	0	0	1	4809	639	23	1		1	EGR3	8	22692344	Silent	SNP	C	C3L-00144_TP	410947	22692344	122446292	823	5102											
NEFM	0	.	GRCh38	chr8	24914195	24914195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagattgaggcggagatccaGgcgctgcggcagaagcaggc	10	4	18	9	3	0	4	0	1	0	3	1	6	1	4	1	5	2	3	1	5	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.402G>T	p.Gln134His	p.Q134H	ENST00000221166	1/3	536	467	69	460	460	0	strelka-varscan-mutect	NEFM,missense_variant,p.Gln134His,ENST00000221166,NM_005382.2;NEFM,missense_variant,p.Gln134His,ENST00000437366,;NEFM,missense_variant,p.Gln134His,ENST00000518131,;NEFM,upstream_gene_variant,,ENST00000433454,NM_001105541.1;GS1-72M22.1,non_coding_transcript_exon_variant,,ENST00000607058,;RP11-624C23.1,upstream_gene_variant,,ENST00000519689,;NEFM,non_coding_transcript_exon_variant,,ENST00000521540,;NEFM,intron_variant,,ENST00000523467,;	T	ENST00000221166	Transcript	missense_variant	1184/4020	402/2751	134/916	Q/H	caG/caT		1		1	NEFM	HGNC	HGNC:7734	protein_coding	YES	CCDS6046.1	ENSP00000221166	P07197		UPI000013C7A9	NM_005382.2	tolerated(0.19)		1/3		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF19,hmmpanther:PTHR23239,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF64593																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	24914195	24914195	G	T	1	0	0	0	0	1	0	0	0	10344	991	35	2		2	NEFM	8	24914195	Missense_Mutation	SNP	G	C3L-00144_TP	2221851	24914195	120224441	824	5103											
KCTD9	0	.	GRCh38	chr8	25446148	25446148	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgatcaaagcaatatcatCaatcagtccacctttcccat	13	11	3	14	0	4	1	4	1	0	0	6	1	6	1	4	0	1	1	4	0	4	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.151G>C	p.Asp51His	p.D51H	ENST00000221200	2/12	93	79	14	91	91	0	strelka-varscan-mutect	KCTD9,missense_variant,p.Asp51His,ENST00000221200,NM_017634.3;KCTD9,non_coding_transcript_exon_variant,,ENST00000518067,;KCTD9,non_coding_transcript_exon_variant,,ENST00000518997,;KCTD9,non_coding_transcript_exon_variant,,ENST00000524217,;KCTD9,intron_variant,,ENST00000522493,;KCTD9,downstream_gene_variant,,ENST00000517914,;KCTD9,missense_variant,p.Asp51His,ENST00000519665,;KCTD9,missense_variant,p.Asp51His,ENST00000523140,;KCTD9,non_coding_transcript_exon_variant,,ENST00000521458,;KCTD9,non_coding_transcript_exon_variant,,ENST00000523294,;KCTD9,downstream_gene_variant,,ENST00000520405,;	G	ENST00000221200	Transcript	missense_variant	372/3401	151/1170	51/389	D/H	Gat/Cat		1		-1	KCTD9	HGNC	HGNC:22401	protein_coding	YES	CCDS6048.1	ENSP00000221200	Q7L273		UPI00001540AF	NM_017634.3	deleterious(0.03)		2/12		Pfam_domain:PF11834,PROSITE_profiles:PS51490,hmmpanther:PTHR14958,hmmpanther:PTHR14958:SF31,Low_complexity_(Seg):seg,Superfamily_domains:SSF89837																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	25446148	25446148	C	G	1	0	0	0	0	1	0	0	0	8033	826	29	4		4	KCTD9	8	25446148	Missense_Mutation	SNP	C	C3L-00144_TP	531953	25446148	119692488	825	5104											
DPYSL2	0	.	GRCh38	chr8	26634783	26634783	+	Missense_Mutation	SNP	G	G	C																															ctgctgctgttttgcaggtcGaggccgaagccgtgaatcgt																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.694G>C	p.Glu232Gln	p.E232Q	ENST00000311151	8/14	215	175	40	205	205	0	strelka-varscan-mutect	DPYSL2,missense_variant,p.Glu337Gln,ENST00000521913,NM_001197293.2;DPYSL2,missense_variant,p.Glu232Gln,ENST00000311151,NM_001386.5;DPYSL2,missense_variant,p.Glu196Gln,ENST00000523027,NM_001244604.1;DPYSL2,non_coding_transcript_exon_variant,,ENST00000521983,;DPYSL2,upstream_gene_variant,,ENST00000474808,;DPYSL2,non_coding_transcript_exon_variant,,ENST00000523093,;	C	ENST00000311151	Transcript	missense_variant	1106/4603	694/1719	232/572	E/Q	Gag/Cag		1		1	DPYSL2	HGNC	HGNC:3014	protein_coding	YES	CCDS6051.1	ENSP00000309539	Q16555		UPI0000129864	NM_001386.5	deleterious(0)		8/14		Gene3D:3.20.20.140,Pfam_domain:PF01979,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF56,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR02033																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	26634783	26634783	G	C	1	0	0	0	0	1	0	0	0	4562	1072	37	4		4	DPYSL2	8	26634783	Missense_Mutation	SNP	G	C3L-00144_TP	1188635	26634783	118503853	826	5105	120	2									
DPYSL2	0	.	GRCh38	chr8	26634784	26634784	+	Missense_Mutation	SNP	A	A	T																															tgctgctgttttgcaggtcgAggccgaagccgtgaatcgtg																								novel		C3L-00144_TP	C3L-00144_NB	A	A																c.695A>T	p.Glu232Val	p.E232V	ENST00000311151	8/14	225	183	42	207	207	0	strelka-varscan-mutect	DPYSL2,missense_variant,p.Glu337Val,ENST00000521913,NM_001197293.2;DPYSL2,missense_variant,p.Glu232Val,ENST00000311151,NM_001386.5;DPYSL2,missense_variant,p.Glu196Val,ENST00000523027,NM_001244604.1;DPYSL2,non_coding_transcript_exon_variant,,ENST00000521983,;DPYSL2,upstream_gene_variant,,ENST00000474808,;DPYSL2,non_coding_transcript_exon_variant,,ENST00000523093,;	T	ENST00000311151	Transcript	missense_variant	1107/4603	695/1719	232/572	E/V	gAg/gTg		1		1	DPYSL2	HGNC	HGNC:3014	protein_coding	YES	CCDS6051.1	ENSP00000309539	Q16555		UPI0000129864	NM_001386.5	deleterious(0)		8/14		Gene3D:3.20.20.140,Pfam_domain:PF01979,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF56,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR02033																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	26634784	26634784	A	T	1	0	0	0	0	1	0	0	0	4562	318	11	4		4	DPYSL2	8	26634784	Missense_Mutation	SNP	A	C3L-00144_TP	1	26634784	118503852	827	5106	120	2									
TEX15	0	.	GRCh38	chr8	30847267	30847267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagttttgggaaatgtcGtggaagccaaatgctctaca	11	12	11	7	1	1	0	0	0	1	0	2	2	1	2	1	2	4	3	1	2	4	4	rs367731089		C3L-00144_TP	C3L-00144_NB	G	G																c.1751C>A	p.Thr584Lys	p.T584K	ENST00000256246	1/4	148	126	22	122	122	0	strelka-varscan-mutect	TEX15,missense_variant,p.Thr584Lys,ENST00000256246,NM_031271.3;TEX15,downstream_gene_variant,,ENST00000523186,;	T	ENST00000256246	Transcript	missense_variant	1826/10187	1751/8370	584/2789	T/K	aCg/aAg	rs367731089	1		-1	TEX15	HGNC	HGNC:11738	protein_coding	YES	CCDS6080.1	ENSP00000256246	Q9BXT5		UPI000013CEF9	NM_031271.3	deleterious(0.01)		1/4		hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1																	MODERATE	1	SNV	1			1										PASS		rs367731089	.												T	3	4	12	30847267	30847267	G	T	1	0	0	0	0	1	0	0	0	16201	1145	40	1		1	TEX15	8	30847267	Missense_Mutation	SNP	G	C3L-00144_TP	4212483	30847267	114291369	828	5107											
WRN	0	.	GRCh38	chr8	31080895	31080895	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttactaaaggatatttcaGaaaatctatattcactgagg	15	14	6	6	0	4	2	2	1	2	1	4	3	4	3	0	2	1	0	0	2	8	7	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.868G>T	p.Glu290Ter	p.E290*	ENST00000298139	9/35	104	91	13	96	96	0	strelka-varscan-mutect	WRN,stop_gained,p.Glu290Ter,ENST00000298139,NM_000553.4;	T	ENST00000298139	Transcript	stop_gained	1117/5215	868/4299	290/1432	E/*	Gaa/Taa		1		1	WRN	HGNC	HGNC:12791	protein_coding	YES	CCDS6082.1	ENSP00000298139	Q14191		UPI000013E49D	NM_000553.4			9/35																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	31080895	31080895	G	T	1	0	0	0	0	0	1	0	0	17959	943	33	2		2	WRN	8	31080895	Nonsense_Mutation	SNP	G	C3L-00144_TP	233628	31080895	114057741	829	5108											
ADGRA2	0	.	GRCh38	chr8	37797374	37797374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggctcggggcgcgcccGgctgcccgctatccatccgc	3	5	14	19	7	0	0	0	0	0	0	3	1	2	0	5	4	1	3	5	4	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.106G>T	p.Gly36Cys	p.G36C	ENST00000412232	1/19	39	32	7	30	30	0	strelka-varscan-mutect	ADGRA2,missense_variant,p.Gly36Cys,ENST00000315215,;ADGRA2,missense_variant,p.Gly36Cys,ENST00000412232,NM_032777.9;ADGRA2,intron_variant,,ENST00000428068,;	T	ENST00000412232	Transcript	missense_variant	119/5651	106/4017	36/1338	G/C	Ggc/Tgc		1		1	ADGRA2	HGNC	HGNC:17849	protein_coding	YES	CCDS6097.2	ENSP00000406367	Q96PE1		UPI00004AE50D	NM_032777.9	deleterious(0.01)		1/19		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	37797374	37797374	G	T	1	0	0	0	0	1	0	0	0	353	1116	39	1		1	ADGRA2	8	37797374	Missense_Mutation	SNP	G	C3L-00144_TP	6716479	37797374	107341262	830	5109											
SNTG1	0	.	GRCh38	chr8	50752060	50752060	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagatgatggcaagagCaaaatcaaatttttgtttca	14	14	7	6	0	4	3	3	1	1	2	4	3	4	3	0	1	1	3	0	1	4	4			C3L-00144_TP	C3L-00144_NB	C	C																c.1344C>T	p.=	p.S448S	ENST00000522124	18/19	109	96	13	119	119	0	strelka-varscan-mutect	SNTG1,synonymous_variant,p.=,ENST00000522124,NM_018967.3;SNTG1,synonymous_variant,p.=,ENST00000518864,NM_001287813.1;SNTG1,intron_variant,,ENST00000517473,NM_001287814.1;SNTG1,3_prime_UTR_variant,,ENST00000520825,;	T	ENST00000522124	Transcript	synonymous_variant	2005/3504	1344/1554	448/517	S	agC/agT	COSM393837,COSM393838,COSM5300872,COSM5300873	1		1	SNTG1	HGNC	HGNC:13740	protein_coding	YES	CCDS6147.1	ENSP00000429842	Q9NSN8	A0A024R7Y0	UPI000004A0DD	NM_018967.3			18/19		hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF2,Low_complexity_(Seg):seg											1,1,1,1						LOW	1	SNV	1		1,1,1,1	1										PASS		rs1325866719	.												T	2	4	12	50752060	50752060	C	T	1	0	0	0	0	0	0	0	1	15194	709	25	3		3	SNTG1	8	50752060	Silent	SNP	C	C3L-00144_TP	12954686	50752060	94386576	831	5110											
PXDNL	0	.	GRCh38	chr8	51411304	51411304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacgttcccgtatcagctGcagcgtgtgctcaaaaatct	10	10	8	13	3	3	0	2	0	1	0	4	0	4	0	1	0	4	5	1	0	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2008C>A	p.Gln670Lys	p.Q670K	ENST00000356297	16/23	60	49	11	45	45	0	strelka-varscan-mutect	PXDNL,missense_variant,p.Gln670Lys,ENST00000356297,NM_144651.4;PXDNL,upstream_gene_variant,,ENST00000522933,;PXDNL,upstream_gene_variant,,ENST00000522628,;	T	ENST00000356297	Transcript	missense_variant	2109/4805	2008/4392	670/1463	Q/K	Cag/Aag		1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4	tolerated(0.24)		16/23		hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	51411304	51411304	G	T	1	0	0	0	0	1	0	0	0	13002	1328	46	2		2	PXDNL	8	51411304	Missense_Mutation	SNP	G	C3L-00144_TP	659244	51411304	93727332	832	5111											
PXDNL	0	.	GRCh38	chr8	51457641	51457641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcaaacacattaagtcgaGtatcatcttccaaatccaat	16	11	3	11	1	3	0	2	0	1	0	6	1	5	0	2	0	1	1	2	0	5	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.839C>G	p.Thr280Ser	p.T280S	ENST00000356297	9/23	139	111	28	109	109	0	strelka-varscan-mutect	PXDNL,missense_variant,p.Thr280Ser,ENST00000356297,NM_144651.4;	C	ENST00000356297	Transcript	missense_variant	940/4805	839/4392	280/1463	T/S	aCt/aGt		1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4	tolerated(1)		9/23		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	51457641	51457641	G	C	1	0	0	0	0	1	0	0	0	13002	1029	36	4		4	PXDNL	8	51457641	Missense_Mutation	SNP	G	C3L-00144_TP	46337	51457641	93680995	833	5112											
OPRK1	0	.	GRCh38	chr8	53229398	53229398	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccatcctcatcttcaGtggaaagcagaagtcccgga	10	8	9	14	2	3	1	2	0	1	1	6	3	6	3	4	2	1	2	4	2	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1042C>T	p.=	p.L348L	ENST00000265572	4/4	215	189	26	179	179	0	strelka-varscan-mutect	OPRK1,synonymous_variant,p.=,ENST00000612786,NM_001282904.1;OPRK1,synonymous_variant,p.=,ENST00000265572,NM_001318497.1,NM_000912.3;OPRK1,synonymous_variant,p.=,ENST00000613482,;OPRK1,synonymous_variant,p.=,ENST00000520287,;OPRK1,synonymous_variant,p.=,ENST00000524278,;RP11-162D9.3,intron_variant,,ENST00000524425,;OPRK1,3_prime_UTR_variant,,ENST00000522508,;	A	ENST00000265572	Transcript	synonymous_variant	1340/5014	1042/1143	348/380	L	Ctg/Ttg		1		-1	OPRK1	HGNC	HGNC:8154	protein_coding	YES	CCDS6152.1	ENSP00000265572	P41145		UPI000011D794	NM_001318497.1,NM_000912.3			4/4		Gene3D:1.20.1070.10,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF1,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	53229398	53229398	G	A	1	0	0	0	0	0	0	0	1	10961	1020	36	3		3	OPRK1	8	53229398	Silent	SNP	G	C3L-00144_TP	1771757	53229398	91909238	834	5113											
OPRK1	0	.	GRCh38	chr8	53251009	53251009	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcaggtagggcccggctccCcgcggaagatctggatcggg	6	5	17	13	5	1	1	0	0	1	1	3	3	2	3	3	6	0	3	3	6	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.29G>C	p.Gly10Ala	p.G10A	ENST00000265572	2/4	67	61	6	64	64	0	strelka-varscan-mutect	OPRK1,missense_variant,p.Gly10Ala,ENST00000265572,NM_001318497.1,NM_000912.3;OPRK1,missense_variant,p.Gly10Ala,ENST00000613482,;OPRK1,missense_variant,p.Gly10Ala,ENST00000520287,;OPRK1,5_prime_UTR_variant,,ENST00000612786,NM_001282904.1;OPRK1,missense_variant,p.Gly10Ala,ENST00000522508,;	G	ENST00000265572	Transcript	missense_variant	327/5014	29/1143	10/380	G/A	gGg/gCg		1		-1	OPRK1	HGNC	HGNC:8154	protein_coding	YES	CCDS6152.1	ENSP00000265572	P41145		UPI000011D794	NM_001318497.1,NM_000912.3	tolerated_low_confidence(0.4)		2/4																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	53251009	53251009	C	G	1	0	0	0	0	1	0	0	0	10961	623	22	4		4	OPRK1	8	53251009	Missense_Mutation	SNP	C	C3L-00144_TP	21611	53251009	91887627	835	5114											
RP1	0	.	GRCh38	chr8	54629175	54629175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaatcctggcatgtgtGgcaatgcagacaccacatca	13	8	9	11	0	1	2	1	1	0	1	2	2	2	2	2	2	1	3	2	2	3	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.5293G>T	p.Gly1765Cys	p.G1765C	ENST00000220676	4/4	316	285	31	266	265	1	strelka-varscan-mutect	RP1,missense_variant,p.Gly1765Cys,ENST00000220676,NM_006269.1;RP1,intron_variant,,ENST00000637698,;RP1,intron_variant,,ENST00000636932,;	T	ENST00000220676	Transcript	missense_variant	5441/7100	5293/6471	1765/2156	G/C	Ggc/Tgc		1		1	RP1	HGNC	HGNC:10263	protein_coding	YES	CCDS6160.1	ENSP00000220676	P56715		UPI000013455B	NM_006269.1	deleterious(0)		4/4		hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	54629175	54629175	G	T	1	0	0	0	0	1	0	0	0	13709	1348	47	2		2	RP1	8	54629175	Missense_Mutation	SNP	G	C3L-00144_TP	1378166	54629175	90509461	836	5115											
LYN	0	.	GRCh38	chr8	55950722	55950722	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaggacgcagaaaggcAgcttttggcaccaggaaata	15	5	13	8	1	0	1	0	0	0	1	0	4	0	4	1	5	1	4	1	5	4	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.425A>T	p.Gln142Leu	p.Q142L	ENST00000519728	6/13	231	195	36	198	197	1	strelka-varscan-mutect	LYN,missense_variant,p.Gln121Leu,ENST00000520220,NM_001111097.2;LYN,missense_variant,p.Gln142Leu,ENST00000519728,NM_002350.3;LYN,missense_variant,p.Gln142Leu,ENST00000520050,;LYN,upstream_gene_variant,,ENST00000420292,;	T	ENST00000519728	Transcript	missense_variant	721/2297	425/1539	142/512	Q/L	cAg/cTg		1		1	LYN	HGNC	HGNC:6735	protein_coding	YES	CCDS6162.1	ENSP00000428924	P07948		UPI000013DACD	NM_002350.3	tolerated(0.5)		6/13		PROSITE_profiles:PS50001,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF42,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550,Superfamily_domains:SSF50044,Prints_domain:PR00401																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	55950722	55950722	A	T	1	0	0	0	0	1	0	0	0	9018	188	7	4		4	LYN	8	55950722	Missense_Mutation	SNP	A	C3L-00144_TP	1321547	55950722	89187914	837	5116											
CHD7	0	.	GRCh38	chr8	60865591	60865591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccccggctggattgccCtcaaacccgctagccttcaa	8	8	8	17	2	2	0	2	0	0	0	2	1	2	1	5	2	4	2	5	2	3	3	rs761229966		C3L-00144_TP	C3L-00144_NB	C	C																c.8652C>T	p.=	p.P2884P	ENST00000423902	38/38	112	93	19	103	103	0	strelka-varscan-mutect	CHD7,synonymous_variant,p.=,ENST00000423902,NM_017780.3;CHD7,synonymous_variant,p.=,ENST00000524602,;CHD7,downstream_gene_variant,,ENST00000618450,;CHD7,downstream_gene_variant,,ENST00000532149,;CHD7,downstream_gene_variant,,ENST00000528280,;CHD7,downstream_gene_variant,,ENST00000531695,;	T	ENST00000423902	Transcript	synonymous_variant	9131/11568	8652/8994	2884/2997	P	ccC/ccT	rs761229966	1		1	CHD7	HGNC	HGNC:20626	protein_coding	YES	CCDS47865.1	ENSP00000392028	Q9P2D1		UPI0000251DA6	NM_017780.3			38/38																			LOW	1	SNV	5			1										PASS		rs761229966	.												T	2	4	12	60865591	60865591	C	T	1	0	0	0	0	0	0	0	1	3089	668	24	3		3	CHD7	8	60865591	Silent	SNP	C	C3L-00144_TP	4914869	60865591	84273045	838	5117											
CLVS1	0	.	GRCh38	chr8	61299909	61299909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaagatgacccatttacagGctggactcagtccagagact	12	8	9	12	0	1	3	1	1	0	2	2	5	2	4	3	2	1	1	3	2	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.82G>T	p.Ala28Ser	p.A28S	ENST00000519846	3/7	196	167	29	168	168	0	strelka-varscan-mutect	CLVS1,missense_variant,p.Ala28Ser,ENST00000519846,;CLVS1,missense_variant,p.Ala28Ser,ENST00000325897,NM_173519.2;CLVS1,missense_variant,p.Ala28Ser,ENST00000522621,;CLVS1,intron_variant,,ENST00000518592,;CLVS1,downstream_gene_variant,,ENST00000523868,;RP11-787D18.1,downstream_gene_variant,,ENST00000518064,;RP11-787D18.1,downstream_gene_variant,,ENST00000521801,;CLVS1,non_coding_transcript_exon_variant,,ENST00000521189,;	T	ENST00000519846	Transcript	missense_variant	554/3622	82/1065	28/354	A/S	Gct/Tct		1		1	CLVS1	HGNC	HGNC:23139	protein_coding	YES	CCDS6176.1	ENSP00000428402	Q8IUQ0		UPI000007472D		tolerated(0.35)		3/7		hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF72,Superfamily_domains:SSF46938																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	12	61299909	61299909	G	T	1	0	0	0	0	1	0	0	0	3344	1203	42	2		2	CLVS1	8	61299909	Missense_Mutation	SNP	G	C3L-00144_TP	434318	61299909	83838727	839	5118											
CLVS1	0	.	GRCh38	chr8	61300177	61300177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcaaggcagatgatcccgGcattaagagggctctgatcg	10	9	12	10	2	2	4	1	2	1	2	4	4	3	4	1	3	0	3	1	3	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.350G>T	p.Gly117Val	p.G117V	ENST00000519846	3/7	187	161	26	173	173	0	strelka-varscan-mutect	CLVS1,missense_variant,p.Gly117Val,ENST00000519846,;CLVS1,missense_variant,p.Gly117Val,ENST00000325897,NM_173519.2;CLVS1,intron_variant,,ENST00000518592,;CLVS1,downstream_gene_variant,,ENST00000523868,;CLVS1,downstream_gene_variant,,ENST00000522621,;RP11-787D18.1,non_coding_transcript_exon_variant,,ENST00000518064,;RP11-787D18.1,downstream_gene_variant,,ENST00000521801,;CLVS1,non_coding_transcript_exon_variant,,ENST00000521189,;	T	ENST00000519846	Transcript	missense_variant	822/3622	350/1065	117/354	G/V	gGc/gTc		1		1	CLVS1	HGNC	HGNC:23139	protein_coding	YES	CCDS6176.1	ENSP00000428402	Q8IUQ0		UPI000007472D		deleterious(0.02)		3/7		Gene3D:3.40.525.10,hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF72																	MODERATE		SNV	5			1										PASS		rs1296695398	.												T	3	4	12	61300177	61300177	G	T	1	0	0	0	0	1	0	0	0	3344	1203	42	2		2	CLVS1	8	61300177	Missense_Mutation	SNP	G	C3L-00144_TP	268	61300177	83838459	840	5119											
CRH	0	.	GRCh38	chr8	66177380	66177380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcggcgcctgccgagctCccgggaccggcccgcggctc	2	4	16	19	7	0	0	0	0	0	0	2	2	1	1	5	4	3	3	5	4	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.98G>T	p.Gly33Val	p.G33V	ENST00000276571	2/2	178	129	49	194	194	0	strelka-varscan-mutect	CRH,missense_variant,p.Gly33Val,ENST00000276571,NM_000756.2;TRIM55,downstream_gene_variant,,ENST00000315962,NM_184085.1;TRIM55,downstream_gene_variant,,ENST00000353317,NM_184086.1;TRIM55,downstream_gene_variant,,ENST00000276573,NM_033058.2;TRIM55,downstream_gene_variant,,ENST00000350034,NM_184087.1;TRIM55,downstream_gene_variant,,ENST00000517647,;	A	ENST00000276571	Transcript	missense_variant	545/1543	98/591	33/196	G/V	gGa/gTa		1		-1	CRH	HGNC	HGNC:2355	protein_coding	YES	CCDS6188.1	ENSP00000276571	P06850	A0A0S2Z478	UPI0000128435	NM_000756.2	deleterious(0.01)		2/2		hmmpanther:PTHR15035,hmmpanther:PTHR15035:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	66177380	66177380	C	A	1	0	0	0	0	1	0	0	0	3670	855	30	2		2	CRH	8	66177380	Missense_Mutation	SNP	C	C3L-00144_TP	4877203	66177380	78961256	841	5120											
PREX2	0	.	GRCh38	chr8	68053197	68053197	+	Frame_Shift_Del	DEL	G	G	-																															atggcaaaaacacctgaagaGaagcatgaatggtttgaagc																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1044delG	p.Lys349SerfsTer9	p.K349Sfs*9	ENST00000288368	9/40	137	108	29	131	131	0	sindel-varindel-pindel	PREX2,frameshift_variant,p.Lys349SerfsTer9,ENST00000288368,NM_024870.2;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;	-	ENST00000288368	Transcript	frameshift_variant	1321/10750	1044/4821	348/1606	E/X	gaG/ga		1		1	PREX2	HGNC	HGNC:22950	protein_coding	YES	CCDS6201.1	ENSP00000288368	Q70Z35		UPI0000375435	NM_024870.2			9/40		PROSITE_profiles:PS50003,hmmpanther:PTHR22829:SF1,hmmpanther:PTHR22829,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	12	68053197	68053197	G	-	1	0	1	0	1	0	0	0	0	12611	933	33	0		0	PREX2	8	68053197	Frame_Shift_Del	DEL	G	C3L-00144_TP	1875817	68053197	77085439	842	5121											
EYA1	0	.	GRCh38	chr8	71299702	71299702	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtatatattcctgatGatgttgtaaaactgctacct	10	17	6	8	0	0	2	0	2	0	0	2	2	2	2	3	0	3	4	3	0	6	8	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.575C>A	p.Ser192Ter	p.S192*	ENST00000340726	8/18	179	159	20	216	216	0	strelka-varscan-mutect	EYA1,stop_gained,p.Ser192Ter,ENST00000340726,NM_000503.5;EYA1,stop_gained,p.Ser186Ter,ENST00000303824,NM_001288575.1,NM_001288574.1;EYA1,stop_gained,p.Ser192Ter,ENST00000388742,NM_172058.3;EYA1,stop_gained,p.Ser159Ter,ENST00000388740,NM_172060.3;EYA1,stop_gained,p.Ser158Ter,ENST00000388741,;EYA1,stop_gained,p.Ser191Ter,ENST00000388743,;EYA1,stop_gained,p.Ser187Ter,ENST00000419131,NM_172059.3;EYA1,missense_variant,p.His165Asn,ENST00000465115,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;EYA1,upstream_gene_variant,,ENST00000493349,;	T	ENST00000340726	Transcript	stop_gained	1215/4326	575/1779	192/592	S/*	tCa/tAa		1		-1	EYA1	HGNC	HGNC:3519	protein_coding	YES	CCDS34906.1	ENSP00000342626	Q99502	A0A024R813	UPI000012A3B3	NM_000503.5			8/18		hmmpanther:PTHR10190,hmmpanther:PTHR10190:SF11																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	71299702	71299702	G	T	1	0	0	0	0	0	1	0	0	5196	1294	45	2		2	EYA1	8	71299702	Nonsense_Mutation	SNP	G	C3L-00144_TP	3246505	71299702	73838934	843	5122											
MSC	0	.	GRCh38	chr8	71844025	71844025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgctcctcctcgccgtcggGgtcctcctcctctgccgacg	1	9	11	20	6	1	0	0	0	1	0	8	1	6	0	7	2	1	1	7	2	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.154C>G	p.Pro52Ala	p.P52A	ENST00000325509	1/2	79	64	15	77	77	0	strelka-varscan-mutect	MSC,missense_variant,p.Pro52Ala,ENST00000325509,NM_005098.3;MSC-AS1,intron_variant,,ENST00000522519,;MSC-AS1,intron_variant,,ENST00000524152,;MSC-AS1,intron_variant,,ENST00000521467,;MSC-AS1,upstream_gene_variant,,ENST00000457356,;MSC-AS1,upstream_gene_variant,,ENST00000518916,;MSC-AS1,upstream_gene_variant,,ENST00000519751,;MSC,upstream_gene_variant,,ENST00000518440,;MSC,upstream_gene_variant,,ENST00000521739,;	C	ENST00000325509	Transcript	missense_variant	444/2023	154/621	52/206	P/A	Ccc/Gcc		1		-1	MSC	HGNC	HGNC:7321	protein_coding	YES	CCDS43746.1	ENSP00000321445	O60682		UPI000012FA29	NM_005098.3	tolerated(0.39)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR23349:SF62,hmmpanther:PTHR23349																	MODERATE	1	SNV	1			1										PASS		rs1303022259	.												C	3	2	12	71844025	71844025	G	C	1	0	0	0	0	1	0	0	0	9851	1232	43	4		4	MSC	8	71844025	Missense_Mutation	SNP	G	C3L-00144_TP	544323	71844025	73294611	844	5123											
TRPA1	0	.	GRCh38	chr8	72052764	72052764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcaaagtgaagtgcagtgTtcttttgaagaaaaacagac	16	9	10	6	0	1	4	0	2	1	2	1	4	1	4	0	0	3	3	0	0	5	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1646A>G	p.Asn549Ser	p.N549S	ENST00000262209	14/27	328	286	42	296	295	1	strelka-varscan-mutect	TRPA1,missense_variant,p.Asn549Ser,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Asn401Ser,ENST00000523582,;MSC-AS1,non_coding_transcript_exon_variant,,ENST00000457356,;MSC-AS1,non_coding_transcript_exon_variant,,ENST00000522519,;MSC-AS1,non_coding_transcript_exon_variant,,ENST00000512290,;MSC-AS1,intron_variant,,ENST00000518916,;MSC-AS1,intron_variant,,ENST00000519068,;MSC-AS1,downstream_gene_variant,,ENST00000519751,;MSC-AS1,downstream_gene_variant,,ENST00000524152,;TRPA1,downstream_gene_variant,,ENST00000520788,;	C	ENST00000262209	Transcript	missense_variant,splice_region_variant	1854/5223	1646/3360	549/1119	N/S	aAc/aGc		1		-1	TRPA1	HGNC	HGNC:497	protein_coding	YES	CCDS34908.1	ENSP00000262209	O75762		UPI000021081A	NM_007332.2	deleterious(0)		14/27		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF6,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	72052764	72052764	T	C	1	0	0	0	0	1	0	0	0	17082	1739	60	5		5	TRPA1	8	72052764	Missense_Mutation	SNP	T	C3L-00144_TP	208739	72052764	73085872	845	5124											
SBSPON	0	.	GRCh38	chr8	73081043	73081043	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgtgcccgcagtcctggcCctgcggggtggagtactcca	4	8	16	13	2	0	0	0	0	0	0	2	1	2	1	4	5	3	2	4	5	1	1			C3L-00144_TP	C3L-00144_NB	C	C																c.385G>C	p.Gly129Arg	p.G129R	ENST00000297354	2/5	48	39	9	26	26	0	strelka-varscan-mutect	SBSPON,missense_variant,p.Gly129Arg,ENST00000297354,NM_153225.3;RP11-956J14.1,downstream_gene_variant,,ENST00000442274,;SBSPON,non_coding_transcript_exon_variant,,ENST00000519697,;	G	ENST00000297354	Transcript	missense_variant	590/3801	385/795	129/264	G/R	Ggc/Cgc	COSM338391	1		-1	SBSPON	HGNC	HGNC:30362	protein_coding	YES	CCDS43747.2	ENSP00000297354	Q8IVN8		UPI0000D47CF3	NM_153225.3	tolerated(0.07)		2/5		hmmpanther:PTHR20920,hmmpanther:PTHR20920:SF2,SMART_domains:SM00209											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	12	73081043	73081043	C	G	1	0	0	0	0	1	0	0	0	14130	623	22	4		4	SBSPON	8	73081043	Missense_Mutation	SNP	C	C3L-00144_TP	1028279	73081043	72057593	846	5125											
CRISPLD1	0	.	GRCh38	chr8	75016600	75016600	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attatccccctcgagaagagGaaacaaatgaaatagaacga	19	6	8	8	2	0	4	0	1	0	3	2	7	1	5	2	1	2	0	2	1	7	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.763G>T	p.Glu255Ter	p.E255*	ENST00000262207	7/15	146	127	19	129	129	0	strelka-mutect	CRISPLD1,stop_gained,p.Glu255Ter,ENST00000262207,NM_031461.5;CRISPLD1,stop_gained,p.Glu67Ter,ENST00000523524,NM_001286778.1;CRISPLD1,stop_gained,p.Glu69Ter,ENST00000517786,NM_001286777.1;CRISPLD1,downstream_gene_variant,,ENST00000520277,;CRISPLD1,downstream_gene_variant,,ENST00000519798,;	T	ENST00000262207	Transcript	stop_gained	1231/4287	763/1503	255/500	E/*	Gaa/Taa		1		1	CRISPLD1	HGNC	HGNC:18206	protein_coding	YES	CCDS6219.1	ENSP00000262207	Q9H336		UPI00000422F5	NM_031461.5			7/15		hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF73																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	75016600	75016600	G	T	1	0	0	0	0	0	1	0	0	3683	1175	41	2		2	CRISPLD1	8	75016600	Nonsense_Mutation	SNP	G	C3L-00144_TP	1935557	75016600	70122036	847	5126											
HNF4G	0	.	GRCh38	chr8	75543942	75543942	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggtgcaagggtttcttcAgacgcagcattcgtaagagt	10	11	13	7	2	2	2	1	0	1	2	3	2	2	2	0	2	2	5	0	2	2	4	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.220A>T	p.Arg74Ter	p.R74*	ENST00000396423	2/10	106	83	23	119	119	0	strelka-varscan-mutect	HNF4G,stop_gained,p.Arg74Ter,ENST00000396423,NM_004133.4;HNF4G,stop_gained,p.Arg37Ter,ENST00000354370,;HNF4G,intron_variant,,ENST00000396419,;	T	ENST00000396423	Transcript	stop_gained	344/4209	220/1338	74/445	R/*	Aga/Tga		1		1	HNF4G	HGNC	HGNC:5026	protein_coding	YES	CCDS6220.2	ENSP00000379701	Q14541	F1D8Q4	UPI0000D47E07	NM_004133.4			2/10		PROSITE_profiles:PS51030,hmmpanther:PTHR24083:SF42,hmmpanther:PTHR24083,PROSITE_patterns:PS00031,Pfam_domain:PF00105,Gene3D:3.30.50.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	75543942	75543942	A	T	1	0	0	0	0	0	1	0	0	7145	180	7	4		4	HNF4G	8	75543942	Nonsense_Mutation	SNP	A	C3L-00144_TP	527342	75543942	69594694	848	5127											
ZFHX4	0	.	GRCh38	chr8	76704523	76704524	+	Frame_Shift_Ins	INS	-	-	A																															catatataattgaggactccINSaaagaaagtgggcagaatgc																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.438dupA	p.Glu147ArgfsTer12	p.E147Rfs*12	ENST00000521891	2/11	298	254	44	294	294	0	sindel-varindel-pindel	ZFHX4,frameshift_variant,p.Glu147ArgfsTer12,ENST00000521891,NM_024721.4;ZFHX4,frameshift_variant,p.Glu147ArgfsTer12,ENST00000518282,;ZFHX4,frameshift_variant,p.Glu147ArgfsTer?,ENST00000520307,;ZFHX4,frameshift_variant,p.Glu147ArgfsTer?,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	A	ENST00000521891	Transcript	frameshift_variant	883-884/14019	435-436/10851	145-146/3616	-/X	-/A		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4			2/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	HIGH	1	insertion	5	3		1										PASS		.	.												A	7	5	12	76704523	76704523	-	A	1	0	1	1	0	0	0	0	0	18213	581	21	0		0	ZFHX4	8	76704523	Frame_Shift_Ins	INS	-	C3L-00144_TP	1160581	76704523	68434113	849	5128											
ZFHX4	0	.	GRCh38	chr8	76707767	76707767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagaggaatggagggcaGtaattggagatatctaccag	14	8	14	5	0	1	3	0	1	1	2	1	6	1	5	1	4	1	2	1	4	5	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2812G>T	p.Val938Leu	p.V938L	ENST00000521891	3/11	253	193	60	241	241	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Val938Leu,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Val912Leu,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	T	ENST00000521891	Transcript	missense_variant	3260/14019	2812/10851	938/3616	V/L	Gta/Tta		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	tolerated(0.09)		3/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	76707767	76707767	G	T	1	0	0	0	0	1	0	0	0	18213	1029	36	2		2	ZFHX4	8	76707767	Missense_Mutation	SNP	G	C3L-00144_TP	3244	76707767	68430869	850	5129											
ZFHX4	0	.	GRCh38	chr8	76855038	76855038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaatgaaggaaagcaggcagGttacagcttgccaccaagcc	14	5	12	10	0	0	1	0	1	0	0	0	3	0	2	3	3	5	4	3	3	5	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.8117G>T	p.Gly2706Val	p.G2706V	ENST00000521891	10/11	180	154	26	120	120	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Gly2706Val,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Gly2680Val,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	T	ENST00000521891	Transcript	missense_variant	8565/14019	8117/10851	2706/3616	G/V	gGt/gTt		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0)		10/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	MODERATE	1	SNV	5			1										PASS		rs1255294073	.												T	3	4	12	76855038	76855038	G	T	1	0	0	0	0	1	0	0	0	18213	1261	44	2		2	ZFHX4	8	76855038	Missense_Mutation	SNP	G	C3L-00144_TP	147271	76855038	68283598	851	5130											
SNX16	0	.	GRCh38	chr8	81823868	81823868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgtcttctaaaaagtCagcattgtaattatctttaa	12	18	5	6	0	5	0	1	0	4	0	5	0	5	0	0	0	1	2	0	0	6	8	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.535G>T	p.Asp179Tyr	p.D179Y	ENST00000396330	5/9	244	206	38	207	207	0	strelka-varscan-mutect	SNX16,missense_variant,p.Asp179Tyr,ENST00000396330,NM_022133.3;SNX16,missense_variant,p.Asp150Tyr,ENST00000353788,NM_152837.2;SNX16,missense_variant,p.Asp179Tyr,ENST00000615066,;SNX16,missense_variant,p.Asp179Tyr,ENST00000345957,NM_152836.2;SNX16,missense_variant,p.Asp179Tyr,ENST00000521810,;SNX16,missense_variant,p.Asp150Tyr,ENST00000523757,;SNX16,intron_variant,,ENST00000520618,;SNX16,upstream_gene_variant,,ENST00000519212,;	A	ENST00000396330	Transcript	missense_variant	1042/3452	535/1035	179/344	D/Y	Gac/Tac		1		-1	SNX16	HGNC	HGNC:14980	protein_coding	YES	CCDS6234.1	ENSP00000379621	P57768		UPI000004D24C	NM_022133.3	deleterious(0)		5/9		PROSITE_profiles:PS50195,hmmpanther:PTHR22999,Pfam_domain:PF00787,Gene3D:3.30.1520.10,SMART_domains:SM00312,Superfamily_domains:SSF64268																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	81823868	81823868	C	A	1	0	0	0	0	1	0	0	0	15208	826	29	2		2	SNX16	8	81823868	Missense_Mutation	SNP	C	C3L-00144_TP	4968830	81823868	63314768	852	5131											
ATP6V0D2	0	.	GRCh38	chr8	86152946	86152946	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttcacagaggcatcgaaCtaaaatcaacagttacattc	16	11	5	9	1	2	1	2	0	0	1	4	2	2	1	0	1	3	2	0	1	6	5	rs752246824		C3L-00144_TP	C3L-00144_NB	C	C																c.1022C>G	p.Thr341Ser	p.T341S	ENST00000285393	8/8	58	50	8	50	50	0	strelka-varscan-mutect	ATP6V0D2,missense_variant,p.Thr341Ser,ENST00000285393,NM_152565.1;CTD-3118D11.2,intron_variant,,ENST00000522679,;CTD-3118D11.2,downstream_gene_variant,,ENST00000524253,;	G	ENST00000285393	Transcript	missense_variant	1164/2446	1022/1053	341/350	T/S	aCt/aGt	rs752246824	1		1	ATP6V0D2	HGNC	HGNC:18266	protein_coding	YES	CCDS6241.1	ENSP00000285393	Q8N8Y2	A0A024R991	UPI0000051F69	NM_152565.1	tolerated(0.54)		8/8		Superfamily_domains:0044678,Pfam_domain:PF01992,PIRSF_domain:PIRSF018497,hmmpanther:PTHR11028,hmmpanther:PTHR11028:SF2																	MODERATE	1	SNV	1			1										PASS		rs752246824	.												G	3	3	12	86152946	86152946	C	G	1	0	0	0	0	1	0	0	0	1327	565	20	4		4	ATP6V0D2	8	86152946	Missense_Mutation	SNP	C	C3L-00144_TP	4329078	86152946	58985690	853	5132											
CALB1	0	.	GRCh38	chr8	90082647	90082647	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgaaatggagccagatctcGaaaaactgtgaggctgtgat	13	9	12	7	2	1	3	0	2	1	1	3	6	1	4	1	2	2	1	1	2	3	0			C3L-00144_TP	C3L-00144_NB	G	G																c.51C>T	p.=	p.F17F	ENST00000265431	1/11	315	280	35	259	259	0	strelka-varscan-mutect	CALB1,synonymous_variant,p.=,ENST00000265431,NM_004929.3;CALB1,intron_variant,,ENST00000523716,;CALB1,intron_variant,,ENST00000514406,;CALB1,intron_variant,,ENST00000520613,;CALB1,upstream_gene_variant,,ENST00000518457,;CALB1,non_coding_transcript_exon_variant,,ENST00000482702,;CALB1,upstream_gene_variant,,ENST00000473670,;CALB1,upstream_gene_variant,,ENST00000476853,;	A	ENST00000265431	Transcript	synonymous_variant	233/2533	51/786	17/261	F	ttC/ttT	COSM5642861	1		-1	CALB1	HGNC	HGNC:1434	protein_coding	YES	CCDS6251.1	ENSP00000265431	P05937		UPI000013D620	NM_004929.3			1/11		PROSITE_profiles:PS50222,hmmpanther:PTHR19972:SF3,hmmpanther:PTHR19972,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	12	90082647	90082647	G	A	1	0	0	0	0	0	0	0	1	2263	1049	37	1		1	CALB1	8	90082647	Silent	SNP	G	C3L-00144_TP	3929701	90082647	55055989	854	5133											
RUNX1T1	0	.	GRCh38	chr8	91960415	91960415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgtccacagatgtgatGgtgcttctcccagtctttgt	5	15	11	10	0	3	2	0	1	3	1	5	2	4	2	2	2	1	1	2	2	0	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1819C>A	p.His607Asn	p.H607N	ENST00000436581	12/12	385	337	48	414	413	1	strelka-varscan-mutect	RUNX1T1,missense_variant,p.His548Asn,ENST00000613302,NM_001198630.1,NM_001198627.1;RUNX1T1,missense_variant,p.His548Asn,ENST00000617740,NM_001198629.1,NM_001198626.1;RUNX1T1,missense_variant,p.His548Asn,ENST00000523629,NM_175634.2;RUNX1T1,missense_variant,p.His548Asn,ENST00000614812,NM_001198631.1;RUNX1T1,missense_variant,p.His607Asn,ENST00000436581,NM_001198679.1;RUNX1T1,missense_variant,p.His521Asn,ENST00000613886,NM_001198632.1;RUNX1T1,missense_variant,p.His528Asn,ENST00000615601,NM_001198633.1;RUNX1T1,missense_variant,p.His548Asn,ENST00000265814,NM_001198628.1;RUNX1T1,missense_variant,p.His521Asn,ENST00000396218,NM_004349.3;RUNX1T1,missense_variant,p.His521Asn,ENST00000518844,NM_001198625.1;RUNX1T1,missense_variant,p.His511Asn,ENST00000422361,NM_175636.2;RUNX1T1,missense_variant,p.His511Asn,ENST00000360348,NM_175635.2;RUNX1T1,missense_variant,p.His559Asn,ENST00000520724,NM_001198634.1;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000521078,;RUNX1T1,downstream_gene_variant,,ENST00000521751,;	T	ENST00000436581	Transcript	missense_variant	2006/7454	1819/1992	607/663	H/N	Cat/Aat		1		-1	RUNX1T1	HGNC	HGNC:1535	protein_coding	YES	CCDS75766.1	ENSP00000402257		A0A0A0MSU1	UPI0001E7B0BD	NM_001198679.1	deleterious(0)		12/12		PROSITE_profiles:PS50865,hmmpanther:PTHR10379:SF5,hmmpanther:PTHR10379,PROSITE_patterns:PS01360,Pfam_domain:PF01753,Superfamily_domains:SSF144232,Prints_domain:PR01875																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	91960415	91960415	G	T	1	0	0	0	0	1	0	0	0	14008	1348	47	2		2	RUNX1T1	8	91960415	Missense_Mutation	SNP	G	C3L-00144_TP	1877768	91960415	53178221	855	5134											
RUNX1T1	0	.	GRCh38	chr8	91986244	91986244	+	Frame_Shift_Del	DEL	C	C	-																															gatccagtaattcaattcttCccggtctgcttcttgacacc																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1336delG	p.Glu446LysfsTer3	p.E446Kfs*3	ENST00000436581	9/12	418	344	74	426	426	0	sindel-varindel	RUNX1T1,frameshift_variant,p.Glu387LysfsTer3,ENST00000613302,NM_001198630.1,NM_001198627.1;RUNX1T1,frameshift_variant,p.Glu387LysfsTer3,ENST00000617740,NM_001198629.1,NM_001198626.1;RUNX1T1,frameshift_variant,p.Glu387LysfsTer3,ENST00000523629,NM_175634.2;RUNX1T1,frameshift_variant,p.Glu387LysfsTer3,ENST00000614812,NM_001198631.1;RUNX1T1,frameshift_variant,p.Glu446LysfsTer3,ENST00000436581,NM_001198679.1;RUNX1T1,frameshift_variant,p.Glu360LysfsTer3,ENST00000613886,NM_001198632.1;RUNX1T1,frameshift_variant,p.Glu367LysfsTer3,ENST00000615601,NM_001198633.1;RUNX1T1,frameshift_variant,p.Glu387LysfsTer3,ENST00000265814,NM_001198628.1;RUNX1T1,frameshift_variant,p.Glu360LysfsTer3,ENST00000396218,NM_004349.3;RUNX1T1,frameshift_variant,p.Glu360LysfsTer3,ENST00000518844,NM_001198625.1;RUNX1T1,frameshift_variant,p.Glu350LysfsTer3,ENST00000422361,NM_175636.2;RUNX1T1,frameshift_variant,p.Glu350LysfsTer3,ENST00000360348,NM_175635.2;RUNX1T1,frameshift_variant,p.Glu398LysfsTer3,ENST00000520724,NM_001198634.1;RUNX1T1,frameshift_variant,p.Glu87LysfsTer3,ENST00000521751,;RUNX1T1,3_prime_UTR_variant,,ENST00000520978,;RUNX1T1,downstream_gene_variant,,ENST00000518361,;	-	ENST00000436581	Transcript	frameshift_variant	1523/7454	1336/1992	446/663	E/X	Gaa/aa		1		-1	RUNX1T1	HGNC	HGNC:1535	protein_coding	YES	CCDS75766.1	ENSP00000402257		A0A0A0MSU1	UPI0001E7B0BD	NM_001198679.1			9/12		hmmpanther:PTHR10379:SF5,hmmpanther:PTHR10379,Pfam_domain:PF08788																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	12	91986244	91986244	C	-	1	0	1	0	1	0	0	0	0	14008	864	30	0		0	RUNX1T1	8	91986244	Frame_Shift_Del	DEL	C	C3L-00144_TP	25829	91986244	53152392	856	5135											
GEM	0	.	GRCh38	chr8	94250398	94250398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacgatcttgccccagaagCgcctggctttcctgggcatg	6	9	11	15	2	1	1	0	0	1	1	2	2	2	1	5	2	2	2	5	2	1	2	rs145789382		C3L-00144_TP	C3L-00144_NB	C	C																c.803G>T	p.Arg268Leu	p.R268L	ENST00000297596	5/5	350	282	68	260	259	1	strelka-varscan-mutect	GEM,missense_variant,p.Arg268Leu,ENST00000297596,NM_005261.3;GEM,missense_variant,p.Arg268Leu,ENST00000396194,NM_181702.2;	A	ENST00000297596	Transcript	missense_variant	1068/2208	803/891	268/296	R/L	cGc/cTc	rs145789382,COSM1102546,COSM356516	1		-1	GEM	HGNC	HGNC:4234	protein_coding	YES	CCDS6261.1	ENSP00000297596	P55040	A0A024R9F5	UPI000012B3BC	NM_005261.3	deleterious(0.01)		5/5		PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF192,PIRSF_domain:PIRSF038017											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs145789382	.												A	3	1	12	94250398	94250398	C	A	1	0	0	0	0	1	0	0	0	6202	768	27	1		1	GEM	8	94250398	Missense_Mutation	SNP	C	C3L-00144_TP	2264154	94250398	50888238	857	5136											
INTS8	0	.	GRCh38	chr8	94827775	94827775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcaaacaggcaaaacccgGaccccctcagttaagtgtgt	13	7	9	12	1	2	0	2	0	0	0	2	1	2	1	3	2	2	2	3	2	4	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.500G>T	p.Gly167Val	p.G167V	ENST00000523731	4/27	350	313	37	219	219	0	strelka-varscan-mutect	INTS8,missense_variant,p.Gly167Val,ENST00000523731,NM_017864.3;INTS8,missense_variant,p.Gly126Val,ENST00000522171,;INTS8,missense_variant,p.Gly120Val,ENST00000519457,;INTS8,missense_variant,p.Gly58Val,ENST00000519053,;INTS8,missense_variant,p.Gly155Val,ENST00000521860,;INTS8,upstream_gene_variant,,ENST00000520526,;INTS8,downstream_gene_variant,,ENST00000523808,;INTS8,missense_variant,p.Gly167Val,ENST00000343161,;INTS8,missense_variant,p.Gly167Val,ENST00000523206,;INTS8,missense_variant,p.Gly167Val,ENST00000524333,;INTS8,non_coding_transcript_exon_variant,,ENST00000523321,;	T	ENST00000523731	Transcript	missense_variant	633/4633	500/2988	167/995	G/V	gGa/gTa		1		1	INTS8	HGNC	HGNC:26048	protein_coding	YES	CCDS34925.1	ENSP00000430338	Q75QN2		UPI000023B7D0	NM_017864.3	tolerated(0.08)		4/27		hmmpanther:PTHR13350																	MODERATE	1	SNV	1			1										PASS		rs1385835112	.												T	3	4	12	94827775	94827775	G	T	1	0	0	0	0	1	0	0	0	7687	1174	41	2		2	INTS8	8	94827775	Missense_Mutation	SNP	G	C3L-00144_TP	577377	94827775	50310861	858	5137											
GDF6	0	.	GRCh38	chr8	96144594	96144594	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacgactccaccaccatgTcctcgtactgcttgtagacc	8	9	7	17	3	0	1	0	0	0	1	3	2	2	1	5	0	2	4	5	0	2	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1337A>T	p.Asp446Val	p.D446V	ENST00000287020	2/2	228	179	49	194	194	0	strelka-varscan-mutect	GDF6,missense_variant,p.Asp446Val,ENST00000287020,NM_001001557.2;GDF6,3_prime_UTR_variant,,ENST00000621429,;GDF6,3_prime_UTR_variant,,ENST00000620978,;KB-1043D8.8,upstream_gene_variant,,ENST00000602571,;	A	ENST00000287020	Transcript	missense_variant	1437/3701	1337/1368	446/455	D/V	gAc/gTc		1		-1	GDF6	HGNC	HGNC:4221	protein_coding	YES	CCDS34926.1	ENSP00000287020	Q6KF10	A0A0S2A5D6	UPI0000047253	NM_001001557.2	deleterious(0)		2/2		Gene3D:2.10.90.10,Pfam_domain:PF00019,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF43,SMART_domains:SM00204,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	96144594	96144594	T	A	1	0	0	0	0	1	0	0	0	6190	1667	58	4		4	GDF6	8	96144594	Missense_Mutation	SNP	T	C3L-00144_TP	1316819	96144594	48994042	859	5138											
SDC2	0	.	GRCh38	chr8	96602522	96602522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacaagatacctgctcaGacaaaggtgcgttctatttt	13	11	8	9	1	2	3	1	0	1	3	2	3	2	3	1	1	4	2	1	1	5	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.300G>T	p.Gln100His	p.Q100H	ENST00000302190	3/5	141	120	21	71	71	0	strelka-varscan-mutect	SDC2,missense_variant,p.Gln100His,ENST00000302190,NM_002998.3;SDC2,missense_variant,p.Gln64His,ENST00000518385,;SDC2,missense_variant,p.Gln71His,ENST00000519914,;SDC2,missense_variant,p.Gln71His,ENST00000522911,;SDC2,missense_variant,p.Gln71His,ENST00000523877,;SDC2,missense_variant,p.Gln71His,ENST00000521590,;	T	ENST00000302190	Transcript	missense_variant	1221/3759	300/606	100/201	Q/H	caG/caT		1		1	SDC2	HGNC	HGNC:10659	protein_coding	YES	CCDS6272.1	ENSP00000307046	P34741	A0A024R9D1	UPI000013E7A4	NM_002998.3	deleterious(0.01)		3/5		hmmpanther:PTHR10915,hmmpanther:PTHR10915:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	96602522	96602522	G	T	1	0	0	0	0	1	0	0	0	14224	933	33	2		2	SDC2	8	96602522	Missense_Mutation	SNP	G	C3L-00144_TP	457928	96602522	48536114	860	5139											
DCAF13	0	.	GRCh38	chr8	103415330	103415330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagcaggccgccgctccGcgagtcacgtgactggaagt	8	5	14	14	5	1	1	1	1	0	0	2	3	2	2	4	2	2	2	4	2	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.340G>A	p.Ala114Thr	p.A114T	ENST00000297579	1/11	336	288	48	250	250	0	strelka-varscan-mutect	DCAF13,missense_variant,p.Ala114Thr,ENST00000297579,NM_015420.6;DCAF13,missense_variant,p.Ala114Thr,ENST00000616836,;SLC25A32,upstream_gene_variant,,ENST00000297578,NM_030780.4;DCAF13,upstream_gene_variant,,ENST00000521971,;DCAF13,upstream_gene_variant,,ENST00000618975,;DCAF13,upstream_gene_variant,,ENST00000612750,;DCAF13,upstream_gene_variant,,ENST00000519682,;DCAF13,upstream_gene_variant,,ENST00000521999,;DCAF13,upstream_gene_variant,,ENST00000518554,;SLC25A32,upstream_gene_variant,,ENST00000521645,;SLC25A32,upstream_gene_variant,,ENST00000523256,;SLC25A32,upstream_gene_variant,,ENST00000523866,;DCAF13,upstream_gene_variant,,ENST00000521716,;	A	ENST00000297579	Transcript	missense_variant	617/2642	340/1794	114/597	A/T	Gcg/Acg		1		1	DCAF13	HGNC	HGNC:24535	protein_coding	YES	CCDS34934.1	ENSP00000297579		A0A087WT20	UPI0000DBEF2A	NM_015420.6	deleterious_low_confidence(0.01)		1/11																			MODERATE	1	SNV	1			1										PASS		rs1197041745	.												A	3	1	12	103415330	103415330	G	A	1	0	0	0	0	1	0	0	0	4067	1087	38	1		1	DCAF13	8	103415330	Missense_Mutation	SNP	G	C3L-00144_TP	6812808	103415330	41723306	861	5140											
RIMS2	0	.	GRCh38	chr8	103886090	103886090	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagacctccaccaccaaaGcctcataaatcaaagaaagg	17	5	7	12	0	2	2	2	1	0	2	3	3	3	2	5	1	1	0	5	1	5	1			C3L-00144_TP	C3L-00144_NB	G	G																c.1491G>C	p.Lys497Asn	p.K497N	ENST00000504942	4/24	387	328	59	332	332	0	strelka-varscan-mutect	RIMS2,missense_variant,p.Lys305Asn,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Lys275Asn,ENST00000436393,;RIMS2,missense_variant,p.Lys497Asn,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Lys439Asn,ENST00000626043,;RIMS2,missense_variant,p.Lys305Asn,ENST00000408894,;RIMS2,missense_variant,p.Lys305Asn,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Lys501Asn,ENST00000632716,;RIMS2,missense_variant,p.Lys305Asn,ENST00000515551,;	C	ENST00000504942	Transcript	missense_variant	1630/4228	1491/4050	497/1349	K/N	aaG/aaC	COSM1287627,COSM1287628,COSM1287629,COSM1287630,COSM1287631	1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0)		4/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15,Low_complexity_(Seg):seg											1,1,1,1,1						MODERATE	1	SNV	2		1,1,1,1,1	1										PASS		.	.												C	3	2	12	103886090	103886090	G	C	1	0	0	0	0	1	0	0	0	13543	962	34	4		4	RIMS2	8	103886090	Missense_Mutation	SNP	G	C3L-00144_TP	470760	103886090	41252546	862	5141											
RIMS2	0	.	GRCh38	chr8	104251090	104251090	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaagaaaacaaaagtggCaagaaaaacgctggaacccc	22	2	8	9	1	0	2	0	0	0	2	0	3	0	3	2	2	3	2	2	2	10	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3758C>A	p.Ala1253Glu	p.A1253E	ENST00000504942	23/24	231	202	29	176	175	1	strelka-varscan-mutect	RIMS2,missense_variant,p.Ala1067Glu,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Ala1271Glu,ENST00000436393,;RIMS2,missense_variant,p.Ala1253Glu,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Ala1092Glu,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Ala189Glu,ENST00000339750,NM_001282882.1;RIMS2,missense_variant,p.Ala189Glu,ENST00000523362,;RIMS2,downstream_gene_variant,,ENST00000626043,;RIMS2,downstream_gene_variant,,ENST00000408894,;	A	ENST00000504942	Transcript	missense_variant	3897/4228	3758/4050	1253/1349	A/E	gCa/gAa		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0)		23/24		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	2			1										PASS		rs1432389650	.												A	3	1	12	104251090	104251090	C	A	1	0	0	0	0	1	0	0	0	13543	710	25	2		2	RIMS2	8	104251090	Missense_Mutation	SNP	C	C3L-00144_TP	365000	104251090	40887546	863	5142											
DPYS	0	.	GRCh38	chr8	104424383	104424383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttttcatccattttacCactatgctgtaaagcaattc	10	17	4	10	0	2	0	1	0	1	0	4	0	3	0	2	0	3	4	2	0	5	7	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1099G>A	p.Gly367Ser	p.G367S	ENST00000351513	7/10	237	196	41	244	244	0	strelka-varscan-mutect	DPYS,missense_variant,p.Gly367Ser,ENST00000351513,NM_001385.2;KB-1552D7.2,upstream_gene_variant,,ENST00000622091,;DPYS,downstream_gene_variant,,ENST00000519217,;KB-1552D7.2,upstream_gene_variant,,ENST00000319051,;	T	ENST00000351513	Transcript	missense_variant	1232/2127	1099/1560	367/519	G/S	Ggt/Agt		1		-1	DPYS	HGNC	HGNC:3013	protein_coding	YES	CCDS6302.1	ENSP00000276651	Q14117		UPI000012986F	NM_001385.2	deleterious(0.01)		7/10		hmmpanther:PTHR11647:SF50,hmmpanther:PTHR11647,TIGRFAM_domain:TIGR02033,Pfam_domain:PF01979,Gene3D:3.20.20.140,Superfamily_domains:SSF51338,Superfamily_domains:SSF51556																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	104424383	104424383	C	T	1	0	0	0	0	1	0	0	0	4561	594	21	3		3	DPYS	8	104424383	Missense_Mutation	SNP	C	C3L-00144_TP	173293	104424383	40714253	864	5143											
DPYS	0	.	GRCh38	chr8	104427983	104427983	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacctgtgaaacccaccacGcctttttcccatattacgga	11	10	6	14	2	0	1	0	1	0	0	1	3	1	2	5	1	3	0	5	1	4	4	rs373819650		C3L-00144_TP	C3L-00144_NB	G	G																c.1089C>A	p.=	p.G363G	ENST00000351513	6/10	438	375	63	411	410	1	strelka-varscan-mutect	DPYS,synonymous_variant,p.=,ENST00000351513,NM_001385.2;DPYS,downstream_gene_variant,,ENST00000519217,;	T	ENST00000351513	Transcript	synonymous_variant	1222/2127	1089/1560	363/519	G	ggC/ggA	rs373819650,COSM3431995	1		-1	DPYS	HGNC	HGNC:3013	protein_coding	YES	CCDS6302.1	ENSP00000276651	Q14117		UPI000012986F	NM_001385.2			6/10		hmmpanther:PTHR11647:SF50,hmmpanther:PTHR11647,TIGRFAM_domain:TIGR02033,Pfam_domain:PF01979,Gene3D:3.20.20.140,Superfamily_domains:SSF51338,Superfamily_domains:SSF51556											0,1						LOW	1	SNV	1		0,1	1										PASS		rs373819650	.												T	2	4	12	104427983	104427983	G	T	1	0	0	0	0	0	0	0	1	4561	1101	38	1		1	DPYS	8	104427983	Silent	SNP	G	C3L-00144_TP	3600	104427983	40710653	865	5144											
TMEM74	0	.	GRCh38	chr8	108785054	108785054	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccagtccctggcatcacaGaggtctgcctggttgctctt	5	12	10	14	0	3	1	1	0	2	1	5	1	5	1	3	3	2	3	3	3	0	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.45C>G	p.=	p.L15L	ENST00000297459	2/2	62	58	4	59	59	0	strelka-mutect	TMEM74,synonymous_variant,p.=,ENST00000297459,NM_153015.1;TMEM74,intron_variant,,ENST00000518838,;	C	ENST00000297459	Transcript	synonymous_variant	224/1741	45/918	15/305	L	ctC/ctG		1		-1	TMEM74	HGNC	HGNC:26409	protein_coding	YES	CCDS6310.1	ENSP00000297459	Q96NL1	A0A024R9D4	UPI000006E80B	NM_153015.1			2/2		hmmpanther:PTHR16125,hmmpanther:PTHR16125:SF3																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	12	108785054	108785054	G	C	1	0	0	0	0	0	0	0	1	16677	929	33	4		4	TMEM74	8	108785054	Silent	SNP	G	C3L-00144_TP	4357071	108785054	36353582	866	5145											
TRHR	0	.	GRCh38	chr8	109119393	109119393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgacacttacctgtctGccacaaaagtgtcttttgat	10	14	6	11	0	3	2	1	2	2	0	3	2	3	2	2	0	2	0	2	0	3	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1135G>T	p.Ala379Ser	p.A379S	ENST00000518632	3/3	86	75	11	99	99	0	strelka-varscan-mutect	TRHR,missense_variant,p.Ala379Ser,ENST00000518632,;TRHR,missense_variant,p.Ala379Ser,ENST00000311762,NM_003301.5;	T	ENST00000518632	Transcript	missense_variant	1486/1660	1135/1197	379/398	A/S	Gcc/Tcc		1		1	TRHR	HGNC	HGNC:12299	protein_coding	YES	CCDS6311.1	ENSP00000430711	P34981		UPI0000050437		tolerated_low_confidence(0.86)		3/3		hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF115																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	109119393	109119393	G	T	1	0	0	0	0	1	0	0	0	16969	1319	46	2		2	TRHR	8	109119393	Missense_Mutation	SNP	G	C3L-00144_TP	334339	109119393	36019243	867	5146											
PKHD1L1	0	.	GRCh38	chr8	109448142	109448142	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctttttttttttttaaGgtccaccaggaactgaaatt	9	19	7	6	0	0	1	0	1	0	0	1	2	1	2	2	2	2	1	2	2	3	8			C3L-00144_TP	C3L-00144_NB	G	G																c.5777-1G>T		p.X1926_splice	ENST00000378402		70	65	5	78	78	0	varscan-mutect	PKHD1L1,splice_acceptor_variant,,ENST00000378402,NM_177531.4;	T	ENST00000378402	Transcript	splice_acceptor_variant	-/13076	5777/12732	1926/4243			COSM5660659	1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4				38/77												1						HIGH	1	SNV	1		1	1										PASS		.	.												T	5	4	12	109448142	109448142	G	T	1	0	0	0	0	0	0	1	0	12068	1014	35	2		2	PKHD1L1	8	109448142	Splice_Site	SNP	G	C3L-00144_TP	328749	109448142	35690494	868	5147											
CSMD3	0	.	GRCh38	chr8	112319901	112319901	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataatttaacagctttacCtatttcaaattcatcatctt	15	17	1	8	0	4	0	3	0	1	0	4	0	4	0	1	0	3	1	1	0	6	9			C3L-00144_TP	C3L-00144_NB	C	C																c.7246G>T	p.Gly2416Cys	p.G2416C	ENST00000297405	46/71	238	220	18	261	260	1	strelka-varscan-mutect	CSMD3,missense_variant,p.Gly2416Cys,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Gly2376Cys,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Gly2312Cys,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Gly1686Cys,ENST00000339701,;CSMD3,splice_region_variant,,ENST00000492692,;	A	ENST00000297405	Transcript	missense_variant,splice_region_variant	7491/13212	7246/11124	2416/3707	G/C	Ggt/Tgt	COSM1150926,COSM748660	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		46/71		PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs904909497	.												A	3	1	12	112319901	112319901	C	A	1	0	0	0	0	1	0	0	0	3747	695	24	2		2	CSMD3	8	112319901	Missense_Mutation	SNP	C	C3L-00144_TP	2871759	112319901	32818735	869	5148											
CSMD3	0	.	GRCh38	chr8	112492578	112492578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aataaccttgaagaacataaCcagcatcacagtaataggtg	18	8	7	8	0	1	2	1	1	0	1	1	2	1	2	2	1	4	2	2	1	7	5			C3L-00144_TP	C3L-00144_NB	C	C																c.5189G>T	p.Gly1730Val	p.G1730V	ENST00000297405	31/71	182	153	29	164	163	1	strelka-varscan-mutect	CSMD3,missense_variant,p.Gly1730Val,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Gly1690Val,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Gly1626Val,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Gly1070Val,ENST00000339701,;	A	ENST00000297405	Transcript	missense_variant	5434/13212	5189/11124	1730/3707	G/V	gGt/gTt	COSM1144846,COSM603819	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		31/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	12	112492578	112492578	C	A	1	0	0	0	0	1	0	0	0	3747	507	18	2		2	CSMD3	8	112492578	Missense_Mutation	SNP	C	C3L-00144_TP	172677	112492578	32646058	870	5149											
CSMD3	0	.	GRCh38	chr8	112829711	112829711	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcactgtcctaggatctcCaacttcgcccccatcgccaa	9	8	7	17	2	1	0	0	0	1	0	5	2	2	1	5	1	2	1	5	1	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1834G>T	p.Gly612Ter	p.G612*	ENST00000297405	12/71	467	403	64	393	393	0	strelka-varscan-mutect	CSMD3,stop_gained,p.Gly612Ter,ENST00000297405,NM_198123.1;CSMD3,stop_gained,p.Gly572Ter,ENST00000343508,NM_198124.1;CSMD3,stop_gained,p.Gly508Ter,ENST00000455883,NM_052900.2;	A	ENST00000297405	Transcript	stop_gained	2079/13212	1834/11124	612/3707	G/*	Gga/Tga		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			12/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	112829711	112829711	C	A	1	0	0	0	0	0	1	0	0	3747	603	21	2		2	CSMD3	8	112829711	Nonsense_Mutation	SNP	C	C3L-00144_TP	337133	112829711	32308925	871	5150											
CSMD3	0	.	GRCh38	chr8	113173877	113173877	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccatataatacacctttgGgtggaacaccaggatttcca	12	11	8	10	0	0	0	0	0	0	0	1	2	1	2	4	3	3	0	4	3	4	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.554C>A	p.Pro185His	p.P185H	ENST00000297405	4/71	231	206	25	220	220	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Pro185His,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Pro145His,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Pro185His,ENST00000455883,NM_052900.2;CSMD3,upstream_gene_variant,,ENST00000519485,;CSMD3,non_coding_transcript_exon_variant,,ENST00000497026,;CSMD3,non_coding_transcript_exon_variant,,ENST00000462254,;	T	ENST00000297405	Transcript	missense_variant	799/13212	554/11124	185/3707	P/H	cCc/cAc		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	tolerated(0.51)		4/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	113173877	113173877	G	T	1	0	0	0	0	1	0	0	0	3747	1232	43	2		2	CSMD3	8	113173877	Missense_Mutation	SNP	G	C3L-00144_TP	344166	113173877	31964759	872	5151											
COL14A1	0	.	GRCh38	chr8	120278561	120278561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgaacaaaatctccaGggagatgcaattagatggta	15	10	11	5	0	1	4	0	2	1	2	2	5	1	4	1	2	2	2	1	2	6	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3464G>T	p.Arg1155Met	p.R1155M	ENST00000297848	28/48	119	99	20	93	92	1	strelka-varscan-mutect	COL14A1,missense_variant,p.Arg1155Met,ENST00000297848,NM_021110.2;COL14A1,missense_variant,p.Arg1155Met,ENST00000309791,;COL14A1,missense_variant,p.Arg116Met,ENST00000247781,;COL14A1,downstream_gene_variant,,ENST00000432943,;	T	ENST00000297848	Transcript	missense_variant	3734/6466	3464/5391	1155/1796	R/M	aGg/aTg		1		1	COL14A1	HGNC	HGNC:2191	protein_coding	YES	CCDS34938.1	ENSP00000297848	Q05707		UPI000046D377	NM_021110.2	tolerated(0.05)		28/48		PROSITE_profiles:PS50234,hmmpanther:PTHR11132:SF53,hmmpanther:PTHR11132,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	120278561	120278561	G	T	1	0	0	0	0	1	0	0	0	3459	1000	35	2		2	COL14A1	8	120278561	Missense_Mutation	SNP	G	C3L-00144_TP	7104684	120278561	24860075	873	5152											
COL14A1	0	.	GRCh38	chr8	120315560	120315560	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagaaaaaggagagaaaGgagatactggccttccaggt	16	5	14	6	0	0	3	0	0	0	3	1	7	1	4	2	5	1	0	2	5	4	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.4579G>T	p.Gly1527Ter	p.G1527*	ENST00000297848	39/48	187	162	25	155	155	0	strelka-varscan-mutect	COL14A1,stop_gained,p.Gly1527Ter,ENST00000297848,NM_021110.2;COL14A1,stop_gained,p.Gly1527Ter,ENST00000309791,;COL14A1,stop_gained,p.Gly488Ter,ENST00000247781,;	T	ENST00000297848	Transcript	stop_gained	4849/6466	4579/5391	1527/1796	G/*	Gga/Tga		1		1	COL14A1	HGNC	HGNC:2191	protein_coding	YES	CCDS34938.1	ENSP00000297848	Q05707		UPI000046D377	NM_021110.2			39/48		hmmpanther:PTHR11132:SF53,hmmpanther:PTHR11132,Pfam_domain:PF01391																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	12	120315560	120315560	G	T	1	0	0	0	0	0	1	0	0	3459	1001	35	2		2	COL14A1	8	120315560	Nonsense_Mutation	SNP	G	C3L-00144_TP	36999	120315560	24823076	874	5153											
TBC1D31	0	.	GRCh38	chr8	123105382	123105382	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaacatcagggagagtacAgcagccagcaaaatctaggg	16	5	12	8	0	2	1	1	0	1	1	2	2	2	1	1	2	5	4	1	2	5	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1127A>T	p.Gln376Leu	p.Q376L	ENST00000287380	8/22	206	181	25	174	174	0	strelka-varscan-mutect	TBC1D31,missense_variant,p.Gln376Leu,ENST00000287380,NM_145647.3;TBC1D31,missense_variant,p.Gln271Leu,ENST00000521676,;TBC1D31,missense_variant,p.Gln271Leu,ENST00000522420,;TBC1D31,missense_variant,p.Gln376Leu,ENST00000327098,NM_001145088.1;TBC1D31,missense_variant,p.Gln9Leu,ENST00000518805,;TBC1D31,missense_variant,p.Gln44Leu,ENST00000519418,;TBC1D31,downstream_gene_variant,,ENST00000521914,;TBC1D31,3_prime_UTR_variant,,ENST00000524307,;TBC1D31,downstream_gene_variant,,ENST00000518099,;TBC1D31,upstream_gene_variant,,ENST00000518577,;	T	ENST00000287380	Transcript	missense_variant	1217/3502	1127/3201	376/1066	Q/L	cAg/cTg		1		1	TBC1D31	HGNC	HGNC:30888	protein_coding	YES	CCDS6338.1	ENSP00000287380	Q96DN5		UPI000013DEAB	NM_145647.3	tolerated(0.14)		8/22		hmmpanther:PTHR19853:SF1,hmmpanther:PTHR19853																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	123105382	123105382	A	T	1	0	0	0	0	1	0	0	0	16021	188	7	4		4	TBC1D31	8	123105382	Missense_Mutation	SNP	A	C3L-00144_TP	2789822	123105382	22033254	875	5154											
ZNF572	0	.	GRCh38	chr8	124976545	124976545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgagagtgatggcaagtcaGagaattggggaaattttata	15	11	13	2	0	1	3	1	2	0	2	1	6	1	4	0	3	0	1	0	3	5	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.277G>C	p.Glu93Gln	p.E93Q	ENST00000319286	3/3	142	130	12	145	145	0	strelka-varscan-mutect	ZNF572,missense_variant,p.Glu93Gln,ENST00000319286,NM_152412.2;	C	ENST00000319286	Transcript	missense_variant	431/3275	277/1590	93/529	E/Q	Gag/Cag		1		1	ZNF572	HGNC	HGNC:26758	protein_coding	YES	CCDS6354.1	ENSP00000319305	Q7Z3I7		UPI0000140576	NM_152412.2	tolerated(0.28)		3/3																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	124976545	124976545	G	C	1	0	0	0	0	1	0	0	0	18578	943	33	4		4	ZNF572	8	124976545	Missense_Mutation	SNP	G	C3L-00144_TP	1871163	124976545	20162091	876	5155											
ADCY8	0	.	GRCh38	chr8	130867905	130867905	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaacgataaatgcacaGaccaagtttgacttgaacac	18	7	8	8	1	0	5	0	2	0	3	0	6	0	5	1	0	3	2	1	0	6	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2151C>A	p.=	p.V717V	ENST00000286355	9/18	110	99	11	123	122	1	strelka-varscan-mutect	ADCY8,synonymous_variant,p.=,ENST00000286355,NM_001115.2;ADCY8,intron_variant,,ENST00000377928,;	T	ENST00000286355	Transcript	synonymous_variant	4244/5938	2151/3756	717/1251	V	gtC/gtA		1		-1	ADCY8	HGNC	HGNC:239	protein_coding	YES	CCDS6363.1	ENSP00000286355	P40145	A0A0K0K1K3	UPI000012887C	NM_001115.2			9/18		Transmembrane_helices:TMhelix,hmmpanther:PTHR11920:SF320,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050																	LOW	1	SNV	1			1										PASS		rs1175097089	.												T	2	4	12	130867905	130867905	G	T	1	0	0	0	0	0	0	0	1	344	929	33	2		2	ADCY8	8	130867905	Silent	SNP	G	C3L-00144_TP	5891360	130867905	14270731	877	5156											
TG	0	.	GRCh38	chr8	132983349	132983350	+	Frame_Shift_Ins	INS	-	-	T																															gactgctttttccttttcagINSttgctcaaaataatgctccc																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.6201dupT	p.Ala2068CysfsTer4	p.A2068Cfs*4	ENST00000220616		384	308	76	336	336	0	sindel-varindel-pindel	TG,frameshift_variant,p.Ala2068CysfsTer4,ENST00000220616,NM_003235.4;TG,frameshift_variant,p.Ala524CysfsTer4,ENST00000519178,;TG,intron_variant,,ENST00000519543,;TG,splice_region_variant,,ENST00000522523,;TG,splice_region_variant,,ENST00000524151,;TG,splice_region_variant,,ENST00000520197,;TG,splice_region_variant,,ENST00000519294,;TG,frameshift_variant,p.Ala39CysfsTer4,ENST00000522797,;TG,splice_region_variant,,ENST00000523756,;TG,splice_region_variant,,ENST00000520089,;	T	ENST00000220616	Transcript	frameshift_variant,splice_region_variant	6239-6240/8450	6199-6200/8307	2067/2768	I/IX	att/aTtt		1		1	TG	HGNC	HGNC:11764	protein_coding	YES	CCDS34944.1	ENSP00000220616	P01266		UPI000013C79F	NM_003235.4					PIRSF_domain:PIRSF001831																	HIGH	1	insertion	1	2		1										PASS		.	.												T	7	5	12	132983349	132983349	-	T	1	0	1	1	0	0	0	0	0	16246	1043	36	0		0	TG	8	132983349	Frame_Shift_Ins	INS	-	C3L-00144_TP	2115444	132983349	12155287	878	5157											
ZFAT	0	.	GRCh38	chr8	134637673	134637673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctggacttcttcgtggacCccttaggcctgcctctcttc	3	14	9	15	1	2	0	0	0	2	0	5	2	2	2	4	3	2	1	4	3	1	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.236G>A	p.Gly79Glu	p.G79E	ENST00000377838	3/16	166	139	27	141	141	0	strelka-varscan-mutect	ZFAT,missense_variant,p.Gly67Glu,ENST00000520727,NM_001029939.3,NM_001289394.1;ZFAT,missense_variant,p.Gly79Glu,ENST00000377838,NM_020863.3;ZFAT,missense_variant,p.Gly67Glu,ENST00000429442,;ZFAT,missense_variant,p.Gly67Glu,ENST00000520214,NM_001167583.2;ZFAT,missense_variant,p.Gly67Glu,ENST00000520356,NM_001174158.1;ZFAT,missense_variant,p.Gly79Glu,ENST00000523399,NM_001174157.1;ZFAT,missense_variant,p.Gly17Glu,ENST00000522257,;ZFAT,missense_variant,p.Gly67Glu,ENST00000518191,;ZFAT,upstream_gene_variant,,ENST00000523040,;ZFAT,missense_variant,p.Gly79Glu,ENST00000523243,;ZFAT,3_prime_UTR_variant,,ENST00000523924,;ZFAT,non_coding_transcript_exon_variant,,ENST00000522974,;	T	ENST00000377838	Transcript	missense_variant	411/4597	236/3732	79/1243	G/E	gGg/gAg		1		-1	ZFAT	HGNC	HGNC:19899	protein_coding	YES	CCDS47924.1	ENSP00000367069	Q9P243		UPI0000210061	NM_020863.3	deleterious(0)		3/16		hmmpanther:PTHR24387:SF218,hmmpanther:PTHR24387																	MODERATE	1	SNV	1			1										PASS		rs1183953847	.												T	3	4	12	134637673	134637673	C	T	1	0	0	0	0	1	0	0	0	18209	623	22	3		3	ZFAT	8	134637673	Missense_Mutation	SNP	C	C3L-00144_TP	1654324	134637673	10500963	879	5158											
FAM135B	0	.	GRCh38	chr8	138132753	138132753	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtgcagtccttggcttcaAccagagggcccaggaggttg	9	8	14	10	0	1	1	1	0	0	1	2	2	2	2	3	4	2	3	3	4	2	3	rs371168199		C3L-00144_TP	C3L-00144_NB	A	A																c.4061T>A	p.Val1354Asp	p.V1354D	ENST00000395297	20/20	324	256	68	346	345	1	strelka-varscan-mutect	FAM135B,missense_variant,p.Val1354Asp,ENST00000395297,NM_015912.3;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,3_prime_UTR_variant,,ENST00000276737,;	T	ENST00000395297	Transcript	missense_variant	4232/6962	4061/4221	1354/1406	V/D	gTt/gAt	rs371168199	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	deleterious(0)		20/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482																	MODERATE	1	SNV	5			1										PASS		rs371168199	.												T	3	4	12	138132753	138132753	A	T	1	0	0	0	0	1	0	0	0	5299	43	2	4		4	FAM135B	8	138132753	Missense_Mutation	SNP	A	C3L-00144_TP	3495080	138132753	7005883	880	5159											
FAM135B	0	.	GRCh38	chr8	138151548	138151548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttatgtttagcctccGggaaggcattcactcctcta	7	14	8	12	1	2	0	1	0	1	0	4	1	4	1	3	2	2	3	3	2	4	6	rs147601721		C3L-00144_TP	C3L-00144_NB	G	G																c.2927C>A	p.Pro976Gln	p.P976Q	ENST00000395297	13/20	163	140	23	157	157	0	strelka-varscan-mutect	FAM135B,missense_variant,p.Pro976Gln,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Pro976Gln,ENST00000276737,;FAM135B,missense_variant,p.Pro286Gln,ENST00000467365,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000395295,;	T	ENST00000395297	Transcript	missense_variant	3098/6962	2927/4221	976/1406	P/Q	cCg/cAg	rs147601721,COSM363095,COSM363096	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	tolerated_low_confidence(0.82)		13/20													0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs147601721	.												T	3	4	12	138151548	138151548	G	T	1	0	0	0	0	1	0	0	0	5299	1116	39	1		1	FAM135B	8	138151548	Missense_Mutation	SNP	G	C3L-00144_TP	18795	138151548	6987088	881	5160											
TSNARE1	0	.	GRCh38	chr8	142229531	142229531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgatgacaagcagggCagtgactccagctgatagga	13	7	14	7	0	0	5	0	5	0	0	1	7	1	6	1	2	2	3	1	2	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1495G>A	p.Ala499Thr	p.A499T	ENST00000524325	13/14	204	176	28	193	193	0	strelka-varscan-mutect	TSNARE1,missense_variant,p.Ala499Thr,ENST00000524325,NM_145003.4;TSNARE1,missense_variant,p.Ala500Thr,ENST00000307180,;TSNARE1,missense_variant,p.Ala500Thr,ENST00000520166,;	T	ENST00000524325	Transcript	missense_variant	1671/1963	1495/1542	499/513	A/T	Gcc/Acc		1		-1	TSNARE1	HGNC	HGNC:26437	protein_coding	YES	CCDS6384.1	ENSP00000428763	Q96NA8		UPI00001AEE5E	NM_145003.4	tolerated(0.39)		13/14		Pfam_domain:PF05739,hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF38,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	142229531	142229531	C	T	1	0	0	0	0	1	0	0	0	17135	710	25	3		3	TSNARE1	8	142229531	Missense_Mutation	SNP	C	C3L-00144_TP	4077983	142229531	2909105	882	5161											
ADGRB1	0	.	GRCh38	chr8	142477244	142477244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcggacccctgcgcgaGcagcggctgtgcaacaactc	8	5	13	15	4	0	0	0	0	0	0	1	2	0	1	2	2	8	4	2	2	2	0	rs574367163		C3L-00144_TP	C3L-00144_NB	G	G																c.1188G>T	p.Glu396Asp	p.E396D	ENST00000517894	5/31	85	69	16	82	82	0	strelka-varscan-mutect	ADGRB1,missense_variant,p.Glu396Asp,ENST00000517894,;ADGRB1,missense_variant,p.Glu396Asp,ENST00000323289,NM_001702.2;ADGRB1,missense_variant,p.Glu396Asp,ENST00000521208,;ADGRB1,upstream_gene_variant,,ENST00000518820,;	T	ENST00000517894	Transcript	missense_variant	2082/6241	1188/4755	396/1584	E/D	gaG/gaT	rs574367163	1		1	ADGRB1	HGNC	HGNC:943	protein_coding	YES	CCDS64985.1	ENSP00000430945	O14514		UPI00002109E8		deleterious(0)		5/31		PROSITE_profiles:PS50092,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	5			1										PASS		rs574367163	.												T	3	4	12	142477244	142477244	G	T	1	0	0	0	0	1	0	0	0	355	962	34	2		2	ADGRB1	8	142477244	Missense_Mutation	SNP	G	C3L-00144_TP	247713	142477244	2661392	883	5162											
LYNX1	0	.	GRCh38	chr8	142775340	142775340	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcacgcaggacttactgaCcttcatcctggtgggggtgt	6	10	15	10	1	1	1	1	1	0	0	2	2	2	2	2	5	1	2	2	5	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.177+1G>T		p.X59_splice	ENST00000523332		115	88	27	125	125	0	strelka-varscan-mutect	LYNX1,splice_donor_variant,,ENST00000523332,;LYNX1,missense_variant,p.Val60Phe,ENST00000614491,NM_177477.3;LYNX1,missense_variant,p.Val60Phe,ENST00000621401,NM_177457.4;LYNX1,missense_variant,p.Val60Phe,ENST00000620006,NM_177476.3;LYNX1,missense_variant,p.Val60Phe,ENST00000613110,;LYNX1,missense_variant,p.Val60Phe,ENST00000614268,;LYNX1,intron_variant,,ENST00000615007,NM_023946.3;LYNX1,downstream_gene_variant,,ENST00000522906,;	A	ENST00000523332	Transcript	splice_donor_variant	-/600	177/249	59/82				1		-1	LYNX1	HGNC	HGNC:29604	protein_coding			ENSP00000428713		G3V0Z9	UPI000021064F					3/4																		HIGH		SNV	3			1										PASS		.	.												A	5	1	12	142775340	142775340	C	A	1	0	0	0	0	0	0	1	0	9019	521	18	2		2	LYNX1	8	142775340	Splice_Site	SNP	C	C3L-00144_TP	298096	142775340	2363296	884	5163											
CYP11B1	0	.	GRCh38	chr8	142875022	142875022	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggcactggcgcatgccaaAgccaaagggcacgtggtaga	13	4	14	10	2	0	1	0	0	0	1	0	1	0	1	2	4	2	4	2	4	4	1	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1333T>A	p.Phe445Ile	p.F445I	ENST00000292427	8/9	401	336	65	355	355	0	strelka-varscan-mutect	CYP11B1,missense_variant,p.Phe445Ile,ENST00000292427,NM_000497.3;CYP11B1,missense_variant,p.Phe123Ile,ENST00000519285,;CYP11B1,missense_variant,p.Phe516Ile,ENST00000377675,;CYP11B1,intron_variant,,ENST00000517471,NM_001026213.1;GML,intron_variant,,ENST00000522728,;CYP11B1,intron_variant,,ENST00000314111,;	T	ENST00000292427	Transcript	missense_variant	1366/2664	1333/1512	445/503	F/I	Ttt/Att		1		-1	CYP11B1	HGNC	HGNC:2591	protein_coding	YES	CCDS6392.1	ENSP00000292427	P15538		UPI000013E0BA	NM_000497.3	deleterious(0)		8/9		hmmpanther:PTHR24279,hmmpanther:PTHR24279:SF46,PROSITE_patterns:PS00086,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00385																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	142875022	142875022	A	T	1	0	0	0	0	1	0	0	0	3948	72	3	4		4	CYP11B1	8	142875022	Missense_Mutation	SNP	A	C3L-00144_TP	99682	142875022	2263614	885	5164											
CYP11B2	0	.	GRCh38	chr8	142915072	142915072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgtagtggaagatgctgGgctggacgtccagggtcagg	7	9	19	6	1	1	1	1	0	0	1	2	3	2	3	1	6	1	3	1	6	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.569C>A	p.Pro190His	p.P190H	ENST00000323110	3/9	495	386	109	426	425	1	strelka-varscan-mutect	CYP11B2,missense_variant,p.Pro190His,ENST00000323110,NM_000498.3;GML,intron_variant,,ENST00000522728,;	T	ENST00000323110	Transcript	missense_variant	572/2936	569/1512	190/503	P/H	cCc/cAc		1		-1	CYP11B2	HGNC	HGNC:2592	protein_coding	YES	CCDS6393.1	ENSP00000325822	P19099		UPI00001282CF	NM_000498.3	tolerated(0.09)		3/9		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24279,hmmpanther:PTHR24279:SF46,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	142915072	142915072	G	T	1	0	0	0	0	1	0	0	0	3949	1232	43	2		2	CYP11B2	8	142915072	Missense_Mutation	SNP	G	C3L-00144_TP	40050	142915072	2223564	886	5165											
ZC3H3	0	.	GRCh38	chr8	143538488	143538488	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcacaaccagcgaggcctcCcgggcctgcctgggtcctga	6	6	13	16	2	1	1	1	1	0	0	3	2	3	1	6	3	3	0	6	3	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.879G>A	p.=	p.R293R	ENST00000262577	2/12	299	243	56	251	250	1	strelka-varscan-mutect	ZC3H3,synonymous_variant,p.=,ENST00000262577,NM_015117.2;RP11-661A12.5,downstream_gene_variant,,ENST00000530600,;RP11-661A12.4,upstream_gene_variant,,ENST00000517300,;RN7SKP175,upstream_gene_variant,,ENST00000408472,;	T	ENST00000262577	Transcript	synonymous_variant	911/3280	879/2847	293/948	R	cgG/cgA		1		-1	ZC3H3	HGNC	HGNC:28972	protein_coding	YES	CCDS6402.1	ENSP00000262577	Q8IXZ2		UPI0000160D96	NM_015117.2			2/12		hmmpanther:PTHR23102																	LOW	1	SNV	1			1										PASS		rs1170009503	.												T	2	4	12	143538488	143538488	C	T	1	0	0	0	0	0	0	0	1	18144	610	22	3		3	ZC3H3	8	143538488	Silent	SNP	C	C3L-00144_TP	623416	143538488	1600148	887	5166											
ZC3H3	0	.	GRCh38	chr8	143539068	143539068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgggacaggaggctggcccCcccgggccccgtgcaacggc	5	2	17	17	4	0	0	0	0	0	0	0	2	0	2	5	6	2	2	5	6	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.299G>T	p.Gly100Val	p.G100V	ENST00000262577	2/12	329	259	70	283	282	1	strelka-varscan-mutect	ZC3H3,missense_variant,p.Gly100Val,ENST00000262577,NM_015117.2;RP11-661A12.5,downstream_gene_variant,,ENST00000530600,;RP11-661A12.4,upstream_gene_variant,,ENST00000517300,;RN7SKP175,upstream_gene_variant,,ENST00000408472,;	A	ENST00000262577	Transcript	missense_variant	331/3280	299/2847	100/948	G/V	gGg/gTg		1		-1	ZC3H3	HGNC	HGNC:28972	protein_coding	YES	CCDS6402.1	ENSP00000262577	Q8IXZ2		UPI0000160D96	NM_015117.2	deleterious(0.04)		2/12		hmmpanther:PTHR23102																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	143539068	143539068	C	A	1	0	0	0	0	1	0	0	0	18144	623	22	2		2	ZC3H3	8	143539068	Missense_Mutation	SNP	C	C3L-00144_TP	580	143539068	1599568	888	5167											
WDR97	0	.	GRCh38	chr8	144111206	144111206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggctcaccaacctccatGgggcagccagcctcaggtcc	9	5	11	16	0	2	1	2	0	0	1	4	1	4	1	6	4	3	2	6	4	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2410G>T	p.Gly804Trp	p.G804W	ENST00000323662	10/24	523	415	108	440	440	0	strelka-varscan-mutect	WDR97,missense_variant,p.Gly804Trp,ENST00000323662,;MAF1,downstream_gene_variant,,ENST00000534585,;MAF1,downstream_gene_variant,,ENST00000322428,NM_032272.4;MAF1,downstream_gene_variant,,ENST00000532522,;MAF1,downstream_gene_variant,,ENST00000527058,;MAF1,downstream_gene_variant,,ENST00000534811,;WDR97,downstream_gene_variant,,ENST00000533108,;SHARPIN,upstream_gene_variant,,ENST00000533184,;WDR97,missense_variant,p.Gly804Trp,ENST00000534167,;WDR97,non_coding_transcript_exon_variant,,ENST00000528691,;WDR97,non_coding_transcript_exon_variant,,ENST00000525150,;WDR97,upstream_gene_variant,,ENST00000529209,;	T	ENST00000323662	Transcript	missense_variant	2435/6916	2410/4869	804/1622	G/W	Ggg/Tgg		1		1	WDR97	HGNC	HGNC:26959	protein_coding	YES		ENSP00000320648	A6NE52		UPI000173AA02		deleterious(0)		10/24																			MODERATE		SNV	5			1										PASS		rs1017308155	.												T	3	4	12	144111206	144111206	G	T	1	0	0	0	0	1	0	0	0	17897	1348	47	2		2	WDR97	8	144111206	Missense_Mutation	SNP	G	C3L-00144_TP	572138	144111206	1027430	889	5168											
HGH1	0	.	GRCh38	chr8	144137896	144137896	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaggcaagcccggaggcaGaggtggtgaagctgctgccc	8	4	18	11	2	0	2	0	1	0	1	0	4	0	4	2	6	4	4	2	6	2	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.61G>C	p.Glu21Gln	p.E21Q	ENST00000347708	1/6	23	18	5	18	18	0	strelka-mutect	HGH1,missense_variant,p.Glu21Gln,ENST00000347708,NM_016458.3;HGH1,missense_variant,p.Glu21Gln,ENST00000628266,;HGH1,non_coding_transcript_exon_variant,,ENST00000530074,;HGH1,missense_variant,p.Glu21Gln,ENST00000533266,;HGH1,upstream_gene_variant,,ENST00000534255,;HGH1,upstream_gene_variant,,ENST00000525101,;HGH1,upstream_gene_variant,,ENST00000530409,;TSSK5P,downstream_gene_variant,,ENST00000423978,;	C	ENST00000347708	Transcript	missense_variant	128/2531	61/1173	21/390	E/Q	Gag/Cag		1		1	HGH1	HGNC	HGNC:24161	protein_coding	YES	CCDS6417.1	ENSP00000321320	Q9BTY7		UPI0000073A95	NM_016458.3	tolerated(0.16)		1/6		Low_complexity_(Seg):seg,hmmpanther:PTHR13387																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	144137896	144137896	G	C	1	0	0	0	0	1	0	0	0	6971	943	33	4		4	HGH1	8	144137896	Missense_Mutation	SNP	G	C3L-00144_TP	26690	144137896	1000740	890	5169											
DGAT1	0	.	GRCh38	chr8	144317038	144317038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacctcgtggaagaaggccGaggccaggaacacccctgtc	10	5	13	13	2	0	2	0	1	0	1	2	5	0	4	5	4	1	0	5	4	3	0	rs573410614		C3L-00144_TP	C3L-00144_NB	G	G																c.1232C>T	p.Ser411Leu	p.S411L	ENST00000528718	15/17	197	176	21	169	169	0	strelka-varscan-mutect	DGAT1,missense_variant,p.Ser411Leu,ENST00000528718,NM_012079.5;DGAT1,synonymous_variant,p.=,ENST00000332324,;HSF1,downstream_gene_variant,,ENST00000528838,NM_005526.2;HSF1,downstream_gene_variant,,ENST00000400780,;DGAT1,downstream_gene_variant,,ENST00000611213,;GS1-393G12.12,upstream_gene_variant,,ENST00000525023,;DGAT1,upstream_gene_variant,,ENST00000620428,;DGAT1,downstream_gene_variant,,ENST00000524844,;DGAT1,non_coding_transcript_exon_variant,,ENST00000524965,;DGAT1,non_coding_transcript_exon_variant,,ENST00000527885,;HSF1,downstream_gene_variant,,ENST00000532338,;HSF1,downstream_gene_variant,,ENST00000527328,;HSF1,downstream_gene_variant,,ENST00000614796,;DGAT1,downstream_gene_variant,,ENST00000531896,;HSF1,downstream_gene_variant,,ENST00000528842,;DGAT1,downstream_gene_variant,,ENST00000525371,;HSF1,downstream_gene_variant,,ENST00000534314,;HSF1,downstream_gene_variant,,ENST00000530661,;	A	ENST00000528718	Transcript	missense_variant	1506/3711	1232/1467	411/488	S/L	tCg/tTg	rs573410614,COSM3834272	1		-1	DGAT1	HGNC	HGNC:2843	protein_coding	YES	CCDS6420.1	ENSP00000482264	O75907		UPI0000061DF4	NM_012079.5	deleterious(0)		15/17		Transmembrane_helices:TMhelix,hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF13,Pfam_domain:PF03062,PIRSF_domain:PIRSF500231,PIRSF_domain:PIRSF000439											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs573410614	.												A	3	1	12	144317038	144317038	G	A	1	0	0	0	0	1	0	0	0	4264	1059	37	1		1	DGAT1	8	144317038	Missense_Mutation	SNP	G	C3L-00144_TP	179142	144317038	821598	891	5170											
FOXH1	0	.	GRCh38	chr8	144475168	144475168	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccccaccttgcggaagcAtcggttggaggaaaggttgt	8	9	14	10	2	0	0	0	0	0	0	1	3	0	3	3	5	3	3	3	5	2	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.268T>A	p.Cys90Ser	p.C90S	ENST00000377317	2/3	551	449	102	463	462	1	strelka-varscan-mutect	FOXH1,missense_variant,p.Cys90Ser,ENST00000377317,NM_003923.2;KIFC2,downstream_gene_variant,,ENST00000301332,NM_145754.3;FOXH1,non_coding_transcript_exon_variant,,ENST00000525197,;KIFC2,downstream_gene_variant,,ENST00000531423,;PPP1R16A,upstream_gene_variant,,ENST00000529283,;PPP1R16A,upstream_gene_variant,,ENST00000533088,;PPP1R16A,upstream_gene_variant,,ENST00000526183,;KIFC2,downstream_gene_variant,,ENST00000531425,;PPP1R16A,upstream_gene_variant,,ENST00000526643,;	T	ENST00000377317	Transcript	missense_variant	847/2503	268/1098	90/365	C/S	Tgc/Agc		1		-1	FOXH1	HGNC	HGNC:3814	protein_coding	YES	CCDS6428.1	ENSP00000366534	O75593		UPI0000053417	NM_003923.2	deleterious(0)		2/3		Gene3D:1.10.10.10,Pfam_domain:PF00250,Prints_domain:PR00053,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF191,SMART_domains:SM00339,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	144475168	144475168	A	T	1	0	0	0	0	1	0	0	0	5870	217	8	4		4	FOXH1	8	144475168	Missense_Mutation	SNP	A	C3L-00144_TP	158130	144475168	663468	892	5171											
ZNF16	0	.	GRCh38	chr8	144930861	144930861	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggtgctggatgaggacCgaacgctgactgaaggcttt	8	10	14	9	2	1	3	0	3	1	0	1	6	1	5	1	4	2	3	1	4	2	1	rs3735789		C3L-00144_TP	C3L-00144_NB	C	C																c.1926G>T	p.=	p.S642S	ENST00000276816	4/4	77	62	15	71	71	0	strelka-varscan-mutect	ZNF16,synonymous_variant,p.=,ENST00000276816,NM_001029976.2;ZNF16,synonymous_variant,p.=,ENST00000611477,NM_006958.2;ZNF16,synonymous_variant,p.=,ENST00000394909,;ZNF16,downstream_gene_variant,,ENST00000532351,;ZNF16,downstream_gene_variant,,ENST00000527811,;ZNF16,downstream_gene_variant,,ENST00000532811,;ZNF16,downstream_gene_variant,,ENST00000527512,;	A	ENST00000276816	Transcript	synonymous_variant	2113/2616	1926/2049	642/682	S	tcG/tcT	rs3735789	1		-1	ZNF16	HGNC	HGNC:12947	protein_coding	YES	CCDS6437.1	ENSP00000276816	P17020		UPI00001E058F	NM_001029976.2			4/4		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF269,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		rs3735789	.												A	2	1	12	144930861	144930861	C	A	1	0	0	0	0	0	0	0	1	18319	639	23	1		1	ZNF16	8	144930861	Silent	SNP	C	C3L-00144_TP	455693	144930861	207775	893	5172											
WASH1	0	.	GRCh38	chr9	24990	24990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggagtgctgcatcctcaCaggagtcatggtgcctgtgg	7	9	15	10	0	2	0	2	0	0	0	3	2	3	2	2	4	3	2	2	4	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.10G>T	p.Val4Leu	p.V4L	ENST00000442898	2/11	101	67	34	57	57	0	strelka-varscan-mutect	WASH1,missense_variant,p.Val4Leu,ENST00000442898,NM_182905.4;MIR1302-9,upstream_gene_variant,,ENST00000422679,;	A	ENST00000442898	Transcript	missense_variant	153/1827	10/1398	4/465	V/L	Gtg/Ttg		1		-1	WASH1	HGNC	HGNC:24361	protein_coding	YES	CCDS78375.1	ENSP00000485627	A8K0Z3		UPI0000251DC1	NM_182905.4	tolerated_low_confidence(0.06)		2/11		hmmpanther:PTHR23331,hmmpanther:PTHR23331:SF1																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	24990	24990	C	A	1	0	0	0	0	1	0	0	0	17815	478	17	2		2	WASH1	9	24990	Missense_Mutation	SNP	C	C3L-00144_TP		24990	138369727	894	5173											
DMRT3	0	.	GRCh38	chr9	990197	990197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgtccgtggaggaaggggGatacgctgtccagaaaaacg	12	6	16	7	3	0	1	0	0	0	1	2	4	2	4	2	4	2	1	2	4	4	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.611G>T	p.Gly204Val	p.G204V	ENST00000190165	2/2	123	82	41	123	123	0	strelka-varscan-mutect	DMRT3,missense_variant,p.Gly204Val,ENST00000190165,NM_021240.3;DMRT3,missense_variant,p.Gly67Val,ENST00000417254,;	T	ENST00000190165	Transcript	missense_variant	649/2183	611/1419	204/472	G/V	gGa/gTa		1		1	DMRT3	HGNC	HGNC:13909	protein_coding	YES	CCDS6443.1	ENSP00000190165	Q9NQL9		UPI0000073634	NM_021240.3	tolerated(0.09)		2/2		hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF73																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	990197	990197	G	T	1	0	0	0	0	1	0	0	0	4394	1174	41	2		2	DMRT3	9	990197	Missense_Mutation	SNP	G	C3L-00144_TP	965207	990197	137404520	895	5174											
KCNV2	0	.	GRCh38	chr9	2717845	2717845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttgctccctgggtgccCgttccggctcccaggccagc	3	9	12	17	2	0	0	0	0	0	0	3	0	3	0	5	3	3	4	5	3	0	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.106C>A	p.Arg36Ser	p.R36S	ENST00000382082	1/2	212	140	72	174	174	0	strelka-varscan-mutect	KCNV2,missense_variant,p.Arg36Ser,ENST00000382082,NM_133497.3;PUM3,downstream_gene_variant,,ENST00000490444,;	A	ENST00000382082	Transcript	missense_variant	344/2186	106/1638	36/545	R/S	Cgt/Agt		1		1	KCNV2	HGNC	HGNC:19698	protein_coding	YES	CCDS6447.1	ENSP00000371514	Q8TDN2		UPI0000048D8E	NM_133497.3	tolerated_low_confidence(0.24)		1/2																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	2717845	2717845	C	A	1	0	0	0	0	1	0	0	0	8011	652	23	1		1	KCNV2	9	2717845	Missense_Mutation	SNP	C	C3L-00144_TP	1727648	2717845	135676872	896	5175											
MLANA	0	.	GRCh38	chr9	5897569	5897569	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccagggccgctgggatCggcatcctgacagtgatcct	6	8	15	12	2	0	2	0	2	0	0	3	3	2	3	4	4	0	2	4	4	0	0	rs756181750		C3L-00144_TP	C3L-00144_NB	C	C																c.90C>A	p.=	p.I30I	ENST00000381477	3/5	255	193	62	201	200	1	strelka-varscan-mutect	MLANA,synonymous_variant,p.=,ENST00000381477,NM_005511.1;MLANA,synonymous_variant,p.=,ENST00000381471,;MLANA,synonymous_variant,p.=,ENST00000381476,;MLANA,non_coding_transcript_exon_variant,,ENST00000490518,;MLANA,non_coding_transcript_exon_variant,,ENST00000482341,;KIAA2026,downstream_gene_variant,,ENST00000443149,;KIAA2026,intron_variant,,ENST00000436015,;	A	ENST00000381477	Transcript	synonymous_variant	250/2415	90/357	30/118	I	atC/atA	rs756181750	1		1	MLANA	HGNC	HGNC:7124	protein_coding	YES	CCDS6466.1	ENSP00000370886	Q16655		UPI0000039DCC	NM_005511.1			3/5		Pfam_domain:PF14991,hmmpanther:PTHR15305,hmmpanther:PTHR15305:SF0,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs756181750	.												A	2	1	12	5897569	5897569	C	A	1	0	0	0	0	0	0	0	1	9579	874	31	1		1	MLANA	9	5897569	Silent	SNP	C	C3L-00144_TP	3179724	5897569	132497148	897	5176											
KIAA2026	0	.	GRCh38	chr9	5919954	5919954	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccaaagatgtcttagcCaaaagagtagctggagactt	16	8	10	7	0	1	3	0	0	1	3	1	5	1	3	2	1	3	2	2	1	6	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.6042G>A	p.=	p.L2014L	ENST00000399933	8/8	231	166	65	232	232	0	strelka-varscan-mutect	KIAA2026,synonymous_variant,p.=,ENST00000399933,NM_001017969.2;KIAA2026,synonymous_variant,p.=,ENST00000381461,;KIAA2026,3_prime_UTR_variant,,ENST00000540714,;KIAA2026,intron_variant,,ENST00000436015,;	T	ENST00000399933	Transcript	synonymous_variant	6042/6988	6042/6312	2014/2103	L	ttG/ttA		1		-1	KIAA2026	HGNC	HGNC:23378	protein_coding	YES		ENSP00000382815	Q5HYC2		UPI0001533DB0	NM_001017969.2			8/8		hmmpanther:PTHR31095,hmmpanther:PTHR31095:SF3																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	12	5919954	5919954	C	T	1	0	0	0	0	0	0	0	1	8134	593	21	3		3	KIAA2026	9	5919954	Silent	SNP	C	C3L-00144_TP	22385	5919954	132474763	898	5177											
CNTLN	0	.	GRCh38	chr9	17457703	17457703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggaaatgaagcaattgcaGtataaactaaaggtgattat	17	12	9	3	0	0	2	0	2	0	0	0	3	0	3	0	2	3	3	0	2	9	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3294G>T	p.Gln1098His	p.Q1098H	ENST00000380647	19/26	130	72	58	115	115	0	strelka-varscan-mutect	CNTLN,missense_variant,p.Gln1098His,ENST00000380647,NM_017738.3;CNTLN,intron_variant,,ENST00000461247,;	T	ENST00000380647	Transcript	missense_variant	3378/5576	3294/4221	1098/1406	Q/H	caG/caT		1		1	CNTLN	HGNC	HGNC:23432	protein_coding	YES	CCDS43789.1	ENSP00000370021	Q9NXG0		UPI0000458809	NM_017738.3	tolerated(0.06)		19/26		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18957,hmmpanther:PTHR18957:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	17457703	17457703	G	T	1	0	0	0	0	1	0	0	0	3420	1020	36	2		2	CNTLN	9	17457703	Missense_Mutation	SNP	G	C3L-00144_TP	11537749	17457703	120937014	899	5178											
IFNA10	0	.	GRCh38	chr9	21206613	21206613	+	Frame_Shift_Del	DEL	C	C	-																															ctctgacaacctcccaggcaCaagggctgtatttcctctct																								rs769439907		C3L-00144_TP	C3L-00144_NB	C	C																c.485delG	p.Cys162LeufsTer11	p.C162Lfs*11	ENST00000357374	1/1	408	279	129	346	346	0	sindel-varindel-pindel	IFNA10,frameshift_variant,p.Cys162LeufsTer11,ENST00000357374,NM_002171.2;IFNA7,upstream_gene_variant,,ENST00000239347,NM_021057.2;IFNWP18,downstream_gene_variant,,ENST00000437472,;	-	ENST00000357374	Transcript	frameshift_variant	531/963	485/570	162/189	C/X	tGt/tt	rs769439907	1		-1	IFNA10	HGNC	HGNC:5418	protein_coding	YES	CCDS6499.1	ENSP00000369566	P01566		UPI0000047765	NM_002171.2			1/1		Gene3D:1.20.1250.10,Pfam_domain:PF00143,Prints_domain:PR00266,PROSITE_patterns:PS00252,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29,SMART_domains:SM00076,Superfamily_domains:SSF47266																	HIGH	1	deletion				1										PASS		.	.												-	7	5	12	21206613	21206613	C	-	1	0	1	0	1	0	0	0	0	7432	478	17	0		0	IFNA10	9	21206613	Frame_Shift_Del	DEL	C	C3L-00144_TP	3748910	21206613	117188104	900	5179											
IZUMO3	0	.	GRCh38	chr9	24543229	24543229	+	Nonstop_Mutation	SNP	T	T	A																															tcttgtccatgttgatgtgtTtattttctgagtctaaagtc																								novel		C3L-00144_TP	C3L-00144_NB	T	T																c.702A>T	p.Ter234TyrextTer?	p.*234Yext*?	ENST00000604921	6/6	62	35	27	84	84	0	strelka-varscan-mutect	IZUMO3,stop_lost,p.Ter240TyrextTer16,ENST00000543880,;IZUMO3,stop_lost,p.Ter234TyrextTer?,ENST00000604921,NM_001271706.1;IZUMO3,downstream_gene_variant,,ENST00000418122,;RP11-20A20.2,upstream_gene_variant,,ENST00000602851,;RP11-20A20.2,upstream_gene_variant,,ENST00000602614,;	A	ENST00000604921	Transcript	stop_lost	729/743	702/702	234/233	*/Y	taA/taT		1		-1	IZUMO3	HGNC	HGNC:31421	protein_coding	YES	CCDS65020.1	ENSP00000474246		S4R3E6	UPI0002742D6C	NM_001271706.1			6/6																			HIGH	1	SNV	5			1										PASS		rs1223893251	.												A	4	1	12	24543229	24543229	T	A	1	0	0	0	0	0	0	0	0	7842	1848	64	4		4	IZUMO3	9	24543229	Nonstop_Mutation	SNP	T	C3L-00144_TP	3336616	24543229	113851488	901	5180	121	2									
IZUMO3	0	.	GRCh38	chr9	24543231	24543231	+	Nonstop_Mutation	SNP	A	A	T																															ttgtccatgttgatgtgtttAttttctgagtctaaagtctt																								novel		C3L-00144_TP	C3L-00144_NB	A	A																c.700T>A	p.Ter234LysextTer?	p.*234Kext*?	ENST00000604921	6/6	66	37	29	88	88	0	strelka-varscan-mutect	IZUMO3,stop_lost,p.Ter240LysextTer16,ENST00000543880,;IZUMO3,stop_lost,p.Ter234LysextTer?,ENST00000604921,NM_001271706.1;IZUMO3,downstream_gene_variant,,ENST00000418122,;RP11-20A20.2,upstream_gene_variant,,ENST00000602851,;RP11-20A20.2,upstream_gene_variant,,ENST00000602614,;	T	ENST00000604921	Transcript	stop_lost	727/743	700/702	234/233	*/K	Taa/Aaa		1		-1	IZUMO3	HGNC	HGNC:31421	protein_coding	YES	CCDS65020.1	ENSP00000474246		S4R3E6	UPI0002742D6C	NM_001271706.1			6/6																			HIGH	1	SNV	5			1										PASS		.	.												T	4	4	12	24543231	24543231	A	T	1	0	0	0	0	0	0	0	0	7842	462	16	4		4	IZUMO3	9	24543231	Nonstop_Mutation	SNP	A	C3L-00144_TP	2	24543231	113851486	902	5181	121	2									
SPAG8	0	.	GRCh38	chr9	35811410	35811410	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctgaaccctggaggaatAcaggggctgagctcagagtc	10	9	13	9	0	2	3	1	2	1	1	3	5	2	5	1	4	3	2	1	4	3	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.636T>A	p.Cys212Ter	p.C212*	ENST00000340291	2/8	356	319	37	313	313	0	strelka-varscan-mutect	SPAG8,stop_gained,p.Cys212Ter,ENST00000340291,NM_172312.1;SPAG8,stop_gained,p.Cys210Ter,ENST00000484764,;SPAG8,stop_gained,p.Cys212Ter,ENST00000396638,NM_001039592.1;SPAG8,stop_gained,p.Cys210Ter,ENST00000497810,;NPR2,downstream_gene_variant,,ENST00000342694,NM_003995.3;TMEM8B,upstream_gene_variant,,ENST00000377996,;NPR2,downstream_gene_variant,,ENST00000421267,;HINT2,downstream_gene_variant,,ENST00000259667,NM_032593.2;NPR2,downstream_gene_variant,,ENST00000447210,;SPAG8,non_coding_transcript_exon_variant,,ENST00000479751,;SPAG8,intron_variant,,ENST00000463889,;HINT2,downstream_gene_variant,,ENST00000474908,;HINT2,downstream_gene_variant,,ENST00000474848,;HINT2,downstream_gene_variant,,ENST00000461169,;HINT2,downstream_gene_variant,,ENST00000490578,;SPAG8,upstream_gene_variant,,ENST00000489063,;HINT2,downstream_gene_variant,,ENST00000472085,;HINT2,downstream_gene_variant,,ENST00000471774,;SPAG8,stop_gained,p.Cys212Ter,ENST00000475644,;SPAG8,intron_variant,,ENST00000472605,;SPAG8,intron_variant,,ENST00000495667,;SPAG8,intron_variant,,ENST00000471631,;FAM221B,downstream_gene_variant,,ENST00000388950,;NPR2,downstream_gene_variant,,ENST00000464810,;NPR2,downstream_gene_variant,,ENST00000448821,;SPAG8,upstream_gene_variant,,ENST00000460836,;NPR2,downstream_gene_variant,,ENST00000469249,;	T	ENST00000340291	Transcript	stop_gained	761/1759	636/1506	212/501	C/*	tgT/tgA		1		-1	SPAG8	HGNC	HGNC:14105	protein_coding	YES	CCDS6592.1	ENSP00000340982	Q99932		UPI000013E78B	NM_172312.1			2/8		hmmpanther:PTHR15510																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	35811410	35811410	A	T	1	0	0	0	0	0	1	0	0	15315	389	14	4		4	SPAG8	9	35811410	Nonsense_Mutation	SNP	A	C3L-00144_TP	11268179	35811410	102583307	903	5182											
OR2S2	0	.	GRCh38	chr9	35957963	35957963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggatggtcaccaggatgaGgaccccattgcccagcagga	12	5	13	11	0	1	1	1	1	0	0	1	5	1	5	4	5	2	1	4	5	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.136C>G	p.Leu46Val	p.L46V	ENST00000341959	1/1	266	174	92	255	255	0	strelka-varscan-mutect	OR2S2,missense_variant,p.Leu46Val,ENST00000341959,NM_019897.2;	C	ENST00000341959	Transcript	missense_variant	192/1047	136/960	46/319	L/V	Ctc/Gtc		1		-1	OR2S2	HGNC	HGNC:8276	protein_coding	YES	CCDS6596.2	ENSP00000344040	Q9NQN1		UPI000003FF74	NM_019897.2	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF176,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	12	35957963	35957963	G	C	1	0	0	0	0	1	0	0	0	11093	1000	35	4		4	OR2S2	9	35957963	Missense_Mutation	SNP	G	C3L-00144_TP	146553	35957963	102436754	904	5183											
FRMPD1	0	.	GRCh38	chr9	37740403	37740403	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctcctccagcaggtcCaccttcttccactttggctc	5	12	6	18	0	1	0	0	0	1	0	6	0	5	0	6	2	2	3	6	2	0	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1875C>A	p.=	p.S625S	ENST00000539465	15/16	249	227	22	251	251	0	strelka-varscan-mutect	FRMPD1,synonymous_variant,p.=,ENST00000539465,;FRMPD1,synonymous_variant,p.=,ENST00000377765,NM_014907.2;RP11-613M10.9,intron_variant,,ENST00000540557,;	A	ENST00000539465	Transcript	synonymous_variant	2468/5465	1875/4737	625/1578	S	tcC/tcA		1		1	FRMPD1	HGNC	HGNC:29159	protein_coding	YES	CCDS6612.1	ENSP00000444411	Q5SYB0		UPI000013D2CC				15/16																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	37740403	37740403	C	A	1	0	0	0	0	0	0	0	1	5927	581	21	2		2	FRMPD1	9	37740403	Silent	SNP	C	C3L-00144_TP	1782440	37740403	100654314	905	5184											
ANKRD18A	0	.	GRCh38	chr9	38596192	38596192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgcgaataccgggccactGtttttgttatcattttttca	7	18	8	8	2	2	0	2	0	0	0	2	1	2	0	2	1	2	3	2	1	3	8	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1148C>A	p.Thr383Lys	p.T383K	ENST00000399703	9/16	80	69	11	56	56	0	strelka-mutect	ANKRD18A,missense_variant,p.Thr383Lys,ENST00000399703,NM_147195.2;ANKRD18A,upstream_gene_variant,,ENST00000602295,;ANKRD18A,downstream_gene_variant,,ENST00000475234,;	T	ENST00000399703	Transcript	missense_variant	1523/4041	1148/2979	383/992	T/K	aCa/aAa		1		-1	ANKRD18A	HGNC	HGNC:23643	protein_coding	YES	CCDS55311.1	ENSP00000382610	Q8IVF6		UPI00001AF4AF	NM_147195.2	deleterious(0.05)		9/16		hmmpanther:PTHR24147:SF27,hmmpanther:PTHR24147,Pfam_domain:PF14915																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	38596192	38596192	G	T	1	0	0	0	0	1	0	0	0	748	1377	48	2		2	ANKRD18A	9	38596192	Missense_Mutation	SNP	G	C3L-00144_TP	855789	38596192	99798525	906	5185											
SPATA31A1	0	.	GRCh38	chr9	39358128	39358128	+	Frame_Shift_Del	DEL	C	C	-																															ggtcagctctccggtccagaCcccccaggtgaagtgggcga																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.410delC	p.Pro137GlnfsTer30	p.P137Qfs*30	ENST00000377647	4/4	448	363	85	448	447	1	sindel-varindel-pindel	SPATA31A1,frameshift_variant,p.Pro137GlnfsTer30,ENST00000377647,NM_001085452.2;SPATA31A1,non_coding_transcript_exon_variant,,ENST00000473440,;RP11-347J14.4,downstream_gene_variant,,ENST00000615174,;	-	ENST00000377647	Transcript	frameshift_variant	425/4256	405/4086	135/1361	D/X	gaC/ga		1		1	SPATA31A1	HGNC	HGNC:23394	protein_coding	YES	CCDS43808.2	ENSP00000366875		A0A0R4J2F1	UPI0001AE6DFD	NM_001085452.2			4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18,Pfam_domain:PF15371																	HIGH	1	deletion	1	5		1										PASS		.	.												-	7	5	12	39358128	39358128	C	-	1	0	1	0	1	0	0	0	0	15343	506	18	0		0	SPATA31A1	9	39358128	Frame_Shift_Del	DEL	C	C3L-00144_TP	761936	39358128	99036589	907	5186											
SPATA31A1	0	.	GRCh38	chr9	39358609	39358609	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgtttctgcctcctccCggtggcaggagactgccaga	6	10	12	13	1	2	2	1	0	1	2	4	3	4	2	4	3	2	2	4	3	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.886C>A	p.=	p.R296R	ENST00000377647	4/4	322	265	57	324	324	0	strelka-varscan-mutect	SPATA31A1,synonymous_variant,p.=,ENST00000377647,NM_001085452.2;SPATA31A1,non_coding_transcript_exon_variant,,ENST00000473440,;RP11-347J14.4,downstream_gene_variant,,ENST00000615174,;	A	ENST00000377647	Transcript	synonymous_variant	906/4256	886/4086	296/1361	R	Cgg/Agg		1		1	SPATA31A1	HGNC	HGNC:23394	protein_coding	YES	CCDS43808.2	ENSP00000366875		A0A0R4J2F1	UPI0001AE6DFD	NM_001085452.2			4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	LOW	1	SNV	1			1										PASS		rs1351573408	.												A	2	1	12	39358609	39358609	C	A	1	0	0	0	0	0	0	0	1	15343	643	23	1		1	SPATA31A1	9	39358609	Silent	SNP	C	C3L-00144_TP	481	39358609	99036108	908	5187											
SPATA31A1	0	.	GRCh38	chr9	39361490	39361490	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacagaagtttcaagcccCagtctgtgggtttccctgca	10	10	9	12	0	2	1	1	0	1	1	3	1	3	1	3	1	3	3	3	1	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3767C>A	p.Pro1256Gln	p.P1256Q	ENST00000377647	4/4	396	331	65	432	430	2	strelka-varscan-mutect	SPATA31A1,missense_variant,p.Pro1256Gln,ENST00000377647,NM_001085452.2;RP11-347J14.4,intron_variant,,ENST00000615174,;SPATA31A1,downstream_gene_variant,,ENST00000473440,;	A	ENST00000377647	Transcript	missense_variant	3787/4256	3767/4086	1256/1361	P/Q	cCa/cAa		1		1	SPATA31A1	HGNC	HGNC:23394	protein_coding	YES	CCDS43808.2	ENSP00000366875		A0A0R4J2F1	UPI0001AE6DFD	NM_001085452.2	deleterious(0.01)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	39361490	39361490	C	A	1	0	0	0	0	1	0	0	0	15343	594	21	2		2	SPATA31A1	9	39361490	Missense_Mutation	SNP	C	C3L-00144_TP	2881	39361490	99033227	909	5188											
SPATA31A1	0	.	GRCh38	chr9	39361783	39361783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcaccactgtccaaggCactgtcttctttgggaaggt	9	11	9	12	0	3	0	1	0	2	0	4	1	4	1	3	3	0	1	3	3	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.4060C>A	p.His1354Asn	p.H1354N	ENST00000377647	4/4	281	251	30	255	255	0	varscan-mutect	SPATA31A1,missense_variant,p.His1354Asn,ENST00000377647,NM_001085452.2;RP11-347J14.4,intron_variant,,ENST00000615174,;SPATA31A1,downstream_gene_variant,,ENST00000473440,;	A	ENST00000377647	Transcript	missense_variant	4080/4256	4060/4086	1354/1361	H/N	Cac/Aac		1		1	SPATA31A1	HGNC	HGNC:23394	protein_coding	YES	CCDS43808.2	ENSP00000366875		A0A0R4J2F1	UPI0001AE6DFD	NM_001085452.2	deleterious(0)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		rs1422179682	.												A	3	1	12	39361783	39361783	C	A	1	0	0	0	0	1	0	0	0	15343	710	25	2		2	SPATA31A1	9	39361783	Missense_Mutation	SNP	C	C3L-00144_TP	293	39361783	99032934	910	5189											
CNTNAP3B	0	.	GRCh38	chr9	41964632	41964632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccccatgctcacagtaGctgggcaagcacctaaaaga	12	6	9	14	1	1	1	1	0	0	1	2	1	1	1	3	1	3	5	3	1	4	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1662C>A	p.Ser554Arg	p.S554R	ENST00000377561	11/24	28	20	8	30	30	0	varscan-mutect	CNTNAP3B,missense_variant,p.Ser554Arg,ENST00000612828,;CNTNAP3B,missense_variant,p.Ser554Arg,ENST00000377561,NM_001201380.2;CNTNAP3B,missense_variant,p.Ser554Arg,ENST00000341990,;CNTNAP3B,intron_variant,,ENST00000617422,;CNTNAP3B,upstream_gene_variant,,ENST00000491438,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000618777,;CNTNAP3B,intron_variant,,ENST00000619138,;CNTNAP3B,intron_variant,,ENST00000479351,;	T	ENST00000377561	Transcript	missense_variant	2055/5379	1662/3867	554/1288	S/R	agC/agA		1		-1	CNTNAP3B	HGNC	HGNC:32035	protein_coding	YES	CCDS75836.1	ENSP00000478671		A0A087WUH3	UPI00043788D3	NM_001201380.2	deleterious(0)		11/24		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		rs1167641441	.												T	3	4	12	41964632	41964632	G	T	1	0	0	0	0	1	0	0	0	3430	962	34	2		2	CNTNAP3B	9	41964632	Missense_Mutation	SNP	G	C3L-00144_TP	2602849	41964632	96430085	911	5190											
SPATA31A6	0	.	GRCh38	chr9	42187337	42187337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgaatggcctttgttgagGaaacaactagaaggtaggtt	12	11	12	6	0	0	3	0	2	0	1	0	4	0	4	2	4	2	3	2	4	6	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1635G>T	p.Arg545Ser	p.R545S	ENST00000332857	4/4	462	277	185	368	368	0	strelka-varscan-mutect	SPATA31A6,missense_variant,p.Arg545Ser,ENST00000332857,NM_001145196.1;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	T	ENST00000332857	Transcript	missense_variant	1664/4209	1635/4032	545/1343	R/S	agG/agT		1		1	SPATA31A6	HGNC	HGNC:32006	protein_coding	YES	CCDS75837.1	ENSP00000329825	Q5VVP1		UPI0000197F6E	NM_001145196.1	tolerated(0.32)		4/4		hmmpanther:PTHR21859:SF18,hmmpanther:PTHR21859,Pfam_domain:PF14650																	MODERATE	1	SNV	5			1										PASS		rs1316089062	.												T	3	4	12	42187337	42187337	G	T	1	0	0	0	0	1	0	0	0	15345	1165	41	2		2	SPATA31A6	9	42187337	Missense_Mutation	SNP	G	C3L-00144_TP	222705	42187337	96207380	912	5191											
FP325317.1	0	.	GRCh38	chr9	43110611	43110611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgttcatgccatgggacaCcctgatgatgaccacgagga	10	9	12	10	1	1	3	1	3	0	0	1	6	1	5	3	2	1	1	3	2	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.367G>T	p.Val123Leu	p.V123L	ENST00000539936	6/7	162	143	19	144	144	0	strelka-varscan-mutect	FP325317.1,missense_variant,p.Val123Leu,ENST00000539936,;	A	ENST00000539936	Transcript	missense_variant	699/1681	367/498	123/165	V/L	Gtg/Ttg		1		-1	FP325317.1	Clone_based_ensembl_gene		protein_coding	YES		ENSP00000439534		F6QWF9	UPI000514C5D5		tolerated(1)		6/7		Gene3D:1.20.1080.10,Pfam_domain:PF00230,Prints_domain:PR00783,hmmpanther:PTHR19139,hmmpanther:PTHR19139:SF16,Low_complexity_(Seg):seg,Superfamily_domains:SSF81338,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	43110611	43110611	C	A	1	0	0	0	0	1	0	0	0	5901	507	18	2		2	FP325317.1	9	43110611	Missense_Mutation	SNP	C	C3L-00144_TP	923274	43110611	95284106	913	5192											
ANKRD20A1	0	.	GRCh38	chr9	67900527	67900527	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaatgaaaggtctgaTggatgaaaattgcattttga	16	12	11	2	0	1	6	0	5	1	1	1	7	1	7	0	2	1	1	0	2	5	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1532T>G	p.Met511Arg	p.M511R	ENST00000562196	15/15	89	75	14	116	116	0	strelka-varscan-mutect	ANKRD20A1,missense_variant,p.Met511Arg,ENST00000562196,NM_032250.3;ANKRD20A1,downstream_gene_variant,,ENST00000622129,;ANKRD20A1,downstream_gene_variant,,ENST00000616155,;RP11-195B21.3,upstream_gene_variant,,ENST00000427989,;	G	ENST00000562196	Transcript	missense_variant	1812/3379	1532/2472	511/823	M/R	aTg/aGg		1		1	ANKRD20A1	HGNC	HGNC:23665	protein_coding	YES	CCDS6620.1	ENSP00000477695	Q5TYW2		UPI0000457755	NM_032250.3	deleterious(0)		15/15		hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	67900527	67900527	T	G	1	0	0	0	0	1	0	0	0	751	1464	51	5		5	ANKRD20A1	9	67900527	Missense_Mutation	SNP	T	C3L-00144_TP	24789916	67900527	70494190	914	5193											
SMC5	0	.	GRCh38	chr9	70300175	70300175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagacaaatttaaacaaaGagtctgtgagcccataatgc	17	8	8	8	0	1	3	0	1	1	2	1	4	1	3	1	0	3	0	1	0	5	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1439G>T	p.Arg480Ile	p.R480I	ENST00000361138	10/25	156	133	23	132	132	0	strelka-varscan-mutect	SMC5,missense_variant,p.Arg480Ile,ENST00000361138,NM_015110.3;	T	ENST00000361138	Transcript	missense_variant	1556/5980	1439/3306	480/1101	R/I	aGa/aTa		1		1	SMC5	HGNC	HGNC:20465	protein_coding	YES	CCDS6632.1	ENSP00000354957	Q8IY18		UPI000036763A	NM_015110.3	tolerated(0.16)		10/25		hmmpanther:PTHR19306:SF1,hmmpanther:PTHR19306,Pfam_domain:PF02463																	MODERATE	1	SNV	1			1										PASS		rs1288752425	.												T	3	4	12	70300175	70300175	G	T	1	0	0	0	0	1	0	0	0	15079	942	33	2		2	SMC5	9	70300175	Missense_Mutation	SNP	G	C3L-00144_TP	2399648	70300175	68094542	915	5194											
TRPM6	0	.	GRCh38	chr9	74724732	74724732	+	Missense_Mutation	SNP	C	C	A																															tatcctttcaggggaatagtCatttctttttaaatctgcaa																										C3L-00144_TP	C3L-00144_NB	C	C																c.5950G>T	p.Asp1984Tyr	p.D1984Y	ENST00000360774	39/39	243	215	28	260	260	0	strelka-varscan-mutect	TRPM6,missense_variant,p.Asp1984Tyr,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Asp1979Tyr,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Asp1979Tyr,ENST00000449912,NM_001177310.1;	A	ENST00000360774	Transcript	missense_variant	6188/8425	5950/6069	1984/2022	D/Y	Gac/Tac	COSM1490113,COSM4816199,COSM4816200	1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4	deleterious(0)		39/39		Superfamily_domains:SSF56112											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs1267386232	.												A	3	1	12	74724732	74724732	C	A	1	0	0	0	0	1	0	0	0	17096	826	29	2		2	TRPM6	9	74724732	Missense_Mutation	SNP	C	C3L-00144_TP	4424557	74724732	63669985	916	5195	122	2									
TRPM6	0	.	GRCh38	chr9	74724733	74724733	+	Missense_Mutation	SNP	A	A	T																															atcctttcaggggaatagtcAtttctttttaaatctgcaag																								novel		C3L-00144_TP	C3L-00144_NB	A	A																c.5949T>A	p.Asn1983Lys	p.N1983K	ENST00000360774	39/39	242	214	28	262	262	0	strelka-varscan-mutect	TRPM6,missense_variant,p.Asn1983Lys,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Asn1978Lys,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Asn1978Lys,ENST00000449912,NM_001177310.1;	T	ENST00000360774	Transcript	missense_variant	6187/8425	5949/6069	1983/2022	N/K	aaT/aaA		1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4	deleterious(0.01)		39/39		Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	74724733	74724733	A	T	1	0	0	0	0	1	0	0	0	17096	214	8	4		4	TRPM6	9	74724733	Missense_Mutation	SNP	A	C3L-00144_TP	1	74724733	63669984	917	5196	122	2									
ZCCHC6	0	.	GRCh38	chr9	86353165	86353165	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtcccccggtctttagtgCgcttcacgaaataaggtttt	8	14	9	10	3	2	0	1	0	1	0	3	1	3	0	2	2	1	2	2	2	4	7	rs201201332		C3L-00144_TP	C3L-00144_NB	C	C																c.35G>C	p.Arg12Pro	p.R12P	ENST00000375963	2/27	87	74	13	93	93	0	strelka-varscan-mutect	ZCCHC6,missense_variant,p.Arg12Pro,ENST00000375963,NM_024617.3,NM_001185059.1;ZCCHC6,missense_variant,p.Arg12Pro,ENST00000375960,NM_001185074.1;ZCCHC6,5_prime_UTR_variant,,ENST00000277141,;ZCCHC6,upstream_gene_variant,,ENST00000375947,;	G	ENST00000375963	Transcript	missense_variant	208/5379	35/4488	12/1495	R/P	cGc/cCc	rs201201332	1		-1	ZCCHC6	HGNC	HGNC:25817	protein_coding	YES	CCDS35057.1	ENSP00000365130	Q5VYS8		UPI00004588F6	NM_024617.3,NM_001185059.1	tolerated_low_confidence(0.09)		2/27																			MODERATE	1	SNV	5			1										PASS		rs201201332	.												G	3	3	12	86353165	86353165	C	G	1	0	0	0	0	1	0	0	0	18167	768	27	4		4	ZCCHC6	9	86353165	Missense_Mutation	SNP	C	C3L-00144_TP	11628432	86353165	52041552	918	5197											
GAS1	0	.	GRCh38	chr9	86946131	86946131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgcagtcgttgagcagcgCcgccttgggcatagccagca	8	6	13	14	4	0	1	0	1	0	0	1	1	0	1	3	1	4	5	3	1	1	3	rs757093506		C3L-00144_TP	C3L-00144_NB	C	C																c.649G>T	p.Ala217Ser	p.A217S	ENST00000298743	1/1	471	390	81	435	434	1	strelka-varscan-mutect	GAS1,missense_variant,p.Ala217Ser,ENST00000298743,NM_002048.2;GAS1RR,upstream_gene_variant,,ENST00000415801,;	A	ENST00000298743	Transcript	missense_variant	1059/2827	649/1038	217/345	A/S	Gcg/Tcg	rs757093506	1		-1	GAS1	HGNC	HGNC:4165	protein_coding	YES	CCDS6674.1	ENSP00000298743	P54826		UPI0000140B67	NM_002048.2	tolerated(0.22)		1/1		Pfam_domain:PF02351,hmmpanther:PTHR16840,hmmpanther:PTHR16840:SF3,SMART_domains:SM00907																	MODERATE		SNV				1										PASS		rs757093506	.												A	3	1	12	86946131	86946131	C	A	1	0	0	0	0	1	0	0	0	6114	739	26	2		2	GAS1	9	86946131	Missense_Mutation	SNP	C	C3L-00144_TP	592966	86946131	51448586	919	5198											
GAS1	0	.	GRCh38	chr9	86946724	86946724	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcaggcacagccaggcgCccggcactgtccccccgcgg	6	3	12	20	4	1	0	1	0	0	0	2	0	2	0	6	4	1	2	6	4	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.56G>T	p.Gly19Val	p.G19V	ENST00000298743	1/1	101	84	17	73	73	0	strelka-varscan-mutect	GAS1,missense_variant,p.Gly19Val,ENST00000298743,NM_002048.2;GAS1RR,upstream_gene_variant,,ENST00000415801,;	A	ENST00000298743	Transcript	missense_variant	466/2827	56/1038	19/345	G/V	gGc/gTc		1		-1	GAS1	HGNC	HGNC:4165	protein_coding	YES	CCDS6674.1	ENSP00000298743	P54826		UPI0000140B67	NM_002048.2	tolerated_low_confidence(0.17)		1/1		hmmpanther:PTHR16840,hmmpanther:PTHR16840:SF3,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE		SNV				1										PASS		.	.												A	3	1	12	86946724	86946724	C	A	1	0	0	0	0	1	0	0	0	6114	739	26	2		2	GAS1	9	86946724	Missense_Mutation	SNP	C	C3L-00144_TP	593	86946724	51447993	920	5199											
SEMA4D	0	.	GRCh38	chr9	89379467	89379467	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaagttgaagatgagcAagttttttctgcccataaga	13	12	9	7	0	1	5	0	3	1	2	1	5	1	5	1	0	2	3	1	0	4	5	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1826T>C	p.Leu609Ser	p.L609S	ENST00000450295	16/16	226	183	43	206	206	0	strelka-varscan-mutect	SEMA4D,missense_variant,p.Leu609Ser,ENST00000450295,;SEMA4D,missense_variant,p.Leu609Ser,ENST00000438547,NM_006378.3;SEMA4D,missense_variant,p.Leu609Ser,ENST00000356444,;SEMA4D,missense_variant,p.Leu609Ser,ENST00000422704,;SEMA4D,intron_variant,,ENST00000420987,NM_001142287.1;SEMA4D,intron_variant,,ENST00000339861,;SEMA4D,intron_variant,,ENST00000455551,;SEMA4D,non_coding_transcript_exon_variant,,ENST00000486935,;SEMA4D,intron_variant,,ENST00000429836,;SEMA4D,intron_variant,,ENST00000537934,;SEMA4D,upstream_gene_variant,,ENST00000492386,;SEMA4D,downstream_gene_variant,,ENST00000544513,;SEMA4D,downstream_gene_variant,,ENST00000540183,;	G	ENST00000450295	Transcript	missense_variant	2603/5684	1826/2589	609/862	L/S	tTg/tCg		1		-1	SEMA4D	HGNC	HGNC:10732	protein_coding	YES	CCDS6685.1	ENSP00000416523	Q92854		UPI0000135A6C		deleterious(0)		16/16		PROSITE_profiles:PS50835,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF18,Pfam_domain:PF00047,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	89379467	89379467	A	G	1	0	0	0	0	1	0	0	0	14310	131	5	5		5	SEMA4D	9	89379467	Missense_Mutation	SNP	A	C3L-00144_TP	2432743	89379467	49015250	921	5200											
WNK2	0	.	GRCh38	chr9	93293066	93293066	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcatgaaggtccccacGatcagcgtgacctccttcca	8	8	11	14	2	1	2	1	2	0	0	4	3	4	2	5	2	1	1	5	2	1	1	rs775397503		C3L-00144_TP	C3L-00144_NB	G	G																c.5712G>T	p.=	p.T1904T	ENST00000297954	23/30	96	83	13	81	81	0	strelka-varscan-mutect	WNK2,synonymous_variant,p.=,ENST00000432730,;WNK2,synonymous_variant,p.=,ENST00000297954,NM_001282394.1;WNK2,synonymous_variant,p.=,ENST00000395477,NM_006648.3;WNK2,synonymous_variant,p.=,ENST00000411624,;WNK2,synonymous_variant,p.=,ENST00000427277,;WNK2,synonymous_variant,p.=,ENST00000448251,;WNK2,synonymous_variant,p.=,ENST00000453718,;WNK2,upstream_gene_variant,,ENST00000474009,;WNK2,upstream_gene_variant,,ENST00000479696,;	T	ENST00000297954	Transcript	synonymous_variant	5712/7138	5712/6894	1904/2297	T	acG/acT	rs775397503	1		1	WNK2	HGNC	HGNC:14542	protein_coding	YES	CCDS75858.1	ENSP00000297954	Q9Y3S1		UPI0000236D76	NM_001282394.1			23/30		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10																	LOW	1	SNV	1			1										PASS		rs775397503	.												T	2	4	12	93293066	93293066	G	T	1	0	0	0	0	0	0	0	1	17934	1045	37	1		1	WNK2	9	93293066	Silent	SNP	G	C3L-00144_TP	3913599	93293066	45101651	922	5201											
FOXE1	0	.	GRCh38	chr9	97854806	97854806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccggcagtgcgatctttGccgctgctggccgcctggcg	2	8	16	15	6	1	0	0	0	1	0	1	1	1	0	4	3	3	3	4	3	0	1	rs187232918		C3L-00144_TP	C3L-00144_NB	G	G																c.892G>T	p.Ala298Ser	p.A298S	ENST00000375123	1/1	149	122	27	130	130	0	strelka-varscan-mutect	FOXE1,missense_variant,p.Ala298Ser,ENST00000375123,NM_004473.3;	T	ENST00000375123	Transcript	missense_variant	1553/3462	892/1122	298/373	A/S	Gcc/Tcc	rs187232918	1		1	FOXE1	HGNC	HGNC:3806	protein_coding	YES	CCDS35078.1	ENSP00000364265	O00358		UPI0000167B2F	NM_004473.3	tolerated(0.15)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF156																	MODERATE	1	SNV				1										PASS		rs187232918	.												T	3	4	12	97854806	97854806	G	T	1	0	0	0	0	1	0	0	0	5865	1319	46	2		2	FOXE1	9	97854806	Missense_Mutation	SNP	G	C3L-00144_TP	4561740	97854806	40539911	923	5202											
TBC1D2	0	.	GRCh38	chr9	98199438	98199438	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctcggacacagctctgcgCcgggatgcccgcctctccag	5	6	11	19	4	2	0	0	0	2	0	4	2	2	2	5	2	3	1	5	2	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2730G>T	p.=	p.R910R	ENST00000465784	13/13	438	391	47	367	365	2	strelka-mutect	TBC1D2,synonymous_variant,p.=,ENST00000465784,NM_001267571.1;TBC1D2,synonymous_variant,p.=,ENST00000375066,NM_018421.3;TBC1D2,synonymous_variant,p.=,ENST00000342112,;TBC1D2,synonymous_variant,p.=,ENST00000375063,NM_001267572.1;TBC1D2,3_prime_UTR_variant,,ENST00000375064,;	A	ENST00000465784	Transcript	synonymous_variant	2910/3349	2730/2787	910/928	R	cgG/cgT		1		-1	TBC1D2	HGNC	HGNC:18026	protein_coding	YES	CCDS75865.1	ENSP00000481721	Q9BYX2		UPI000022D946	NM_001267571.1			13/13		Low_complexity_(Seg):seg,hmmpanther:PTHR22957:SF249,hmmpanther:PTHR22957																	LOW	1	SNV	1			1										PASS		rs1295278062	.												A	2	1	12	98199438	98199438	C	A	1	0	0	0	0	0	0	0	1	16008	726	26	2		2	TBC1D2	9	98199438	Silent	SNP	C	C3L-00144_TP	344632	98199438	40195279	924	5203											
INVS	0	.	GRCh38	chr9	100292693	100292693	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggttctagccgccctggCagtgcccggggggaggcggt	3	7	19	12	3	1	0	0	0	1	0	1	1	1	1	3	7	2	3	3	7	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2436C>A	p.=	p.G812G	ENST00000262457	14/17	301	267	34	276	276	0	strelka-varscan-mutect	INVS,synonymous_variant,p.=,ENST00000262457,NM_014425.3;INVS,intron_variant,,ENST00000262456,NM_183245.2;	A	ENST00000262457	Transcript	synonymous_variant	2621/3709	2436/3198	812/1065	G	ggC/ggA		1		1	INVS	HGNC	HGNC:17870	protein_coding	YES	CCDS6746.1	ENSP00000262457	Q9Y283	A0A024R153	UPI000013D2BB	NM_014425.3			14/17		hmmpanther:PTHR24178																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	100292693	100292693	C	A	1	0	0	0	0	0	0	0	1	7690	697	25	2		2	INVS	9	100292693	Silent	SNP	C	C3L-00144_TP	2093255	100292693	38102024	925	5204											
PPP3R2	0	.	GRCh38	chr9	101594414	101594414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaagaaaaaggctcataCgatgaggaccagcttcttgt	13	11	10	7	1	2	2	1	1	1	1	2	4	2	3	1	2	2	3	1	2	4	5	rs151037849		C3L-00144_TP	C3L-00144_NB	C	C																c.517G>T	p.Val173Leu	p.V173L	ENST00000374806	1/1	81	65	16	48	48	0	strelka-varscan-mutect	PPP3R2,missense_variant,p.Val173Leu,ENST00000374806,NM_147180.3;PPP3R2,missense_variant,p.Val70Leu,ENST00000636434,;GRIN3A,intron_variant,,ENST00000361820,NM_133445.2;	A	ENST00000374806	Transcript	missense_variant	588/3387	517/522	173/173	V/L	Gta/Tta	rs151037849	1		-1	PPP3R2	HGNC	HGNC:9318	protein_coding	YES	CCDS6759.1	ENSP00000363939	Q96LZ3		UPI0000035DAE	NM_147180.3	tolerated_low_confidence(0.1)		1/1		hmmpanther:PTHR23056,hmmpanther:PTHR23056:SF42																	MODERATE		SNV				1										PASS		rs151037849	.												A	3	1	12	101594414	101594414	C	A	1	0	0	0	0	1	0	0	0	12523	536	19	1		1	PPP3R2	9	101594414	Missense_Mutation	SNP	C	C3L-00144_TP	1301721	101594414	36800303	926	5205											
GRIN3A	0	.	GRCh38	chr9	101670133	101670133	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcagccaagtttgccgtgTatgtggaaaggcaaaacata	14	8	11	8	1	0	0	0	0	0	0	0	1	0	1	2	2	4	4	2	2	6	3	rs757931023		C3L-00144_TP	C3L-00144_NB	T	T																c.2279A>T	p.Tyr760Phe	p.Y760F	ENST00000361820	3/9	78	61	17	90	90	0	strelka-varscan-mutect	GRIN3A,missense_variant,p.Tyr760Phe,ENST00000361820,NM_133445.2;	A	ENST00000361820	Transcript	missense_variant	2880/7770	2279/3348	760/1115	Y/F	tAc/tTc	rs757931023	1		-1	GRIN3A	HGNC	HGNC:16767	protein_coding	YES	CCDS6758.1	ENSP00000355155	Q8TCU5		UPI0000367661	NM_133445.2	deleterious(0)		3/9		Transmembrane_helices:TMhelix,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154,Pfam_domain:PF00060,Gene3D:1.10.287.70,SMART_domains:SM00079,Prints_domain:PR00177																	MODERATE	1	SNV	1			1										PASS		rs757931023	.												A	3	1	12	101670133	101670133	T	A	1	0	0	0	0	1	0	0	0	6665	1638	57	4		4	GRIN3A	9	101670133	Missense_Mutation	SNP	T	C3L-00144_TP	75719	101670133	36724584	927	5206											
OR13F1	0	.	GRCh38	chr9	104504573	104504573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccactcagatgtacctctCccttgccatgggctccactg	6	10	8	17	1	2	1	1	0	1	1	4	1	3	1	5	1	2	2	5	1	1	2			C3L-00144_TP	C3L-00144_NB	C	C																c.311C>A	p.Ser104Tyr	p.S104Y	ENST00000334726	1/1	295	261	34	265	264	1	strelka-varscan-mutect	OR13F1,missense_variant,p.Ser104Tyr,ENST00000334726,NM_001004485.1;	A	ENST00000334726	Transcript	missense_variant	311/960	311/960	104/319	S/Y	tCc/tAc	COSM4486936	1		1	OR13F1	HGNC	HGNC:14723	protein_coding	YES	CCDS35087.1	ENSP00000334452	Q8NGS4		UPI0000041B47	NM_001004485.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF61,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		rs1208351099	.												A	3	1	12	104504573	104504573	C	A	1	0	0	0	0	1	0	0	0	11017	855	30	2		2	OR13F1	9	104504573	Missense_Mutation	SNP	C	C3L-00144_TP	2834440	104504573	33890144	928	5207											
OR13D1	0	.	GRCh38	chr9	104695317	104695317	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacccaagtcaaagaacaCtaatacatctgatgagatta	19	8	6	8	0	2	3	1	2	1	2	2	5	2	3	1	0	3	0	1	0	7	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.896C>G	p.Thr299Ser	p.T299S	ENST00000318763	1/1	131	103	28	114	114	0	strelka-varscan-mutect	OR13D1,missense_variant,p.Thr299Ser,ENST00000318763,NM_001004484.1;	G	ENST00000318763	Transcript	missense_variant	896/1041	896/1041	299/346	T/S	aCt/aGt		1		1	OR13D1	HGNC	HGNC:14695	protein_coding	YES	CCDS35094.1	ENSP00000317357	Q8NGV5		UPI0000061E68	NM_001004484.1	tolerated(1)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF268,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	12	104695317	104695317	C	G	1	0	0	0	0	1	0	0	0	11016	565	20	4		4	OR13D1	9	104695317	Missense_Mutation	SNP	C	C3L-00144_TP	190744	104695317	33699400	929	5208											
EPB41L4B	0	.	GRCh38	chr9	109255521	109255521	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctccctacctgaatctgaAgcgagagcccagcctgataa	11	7	10	13	1	1	4	0	3	1	1	2	5	2	4	4	1	4	1	4	1	4	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1159T>G	p.Phe387Val	p.F387V	ENST00000374566	11/26	129	112	17	124	124	0	strelka-varscan-mutect	EPB41L4B,missense_variant,p.Phe387Val,ENST00000374566,NM_019114.4;EPB41L4B,missense_variant,p.Phe387Val,ENST00000374557,NM_018424.3;	C	ENST00000374566	Transcript	missense_variant	1677/5800	1159/2703	387/900	F/V	Ttc/Gtc		1		-1	EPB41L4B	HGNC	HGNC:19818	protein_coding	YES	CCDS43859.1	ENSP00000363694	Q9H329		UPI0000458994	NM_019114.4	deleterious(0)		11/26		Pfam_domain:PF08736,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF18,SMART_domains:SM01195,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		rs1385520366	.												C	3	2	12	109255521	109255521	A	C	1	0	0	0	0	1	0	0	0	5003	72	3	5		5	EPB41L4B	9	109255521	Missense_Mutation	SNP	A	C3L-00144_TP	4560204	109255521	29139196	930	5209											
ZNF883	0	.	GRCh38	chr9	112998214	112998214	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagcctttcccacattcagTacagagatatgggttcgcgg	9	11	11	10	2	1	1	1	0	0	1	3	2	2	1	2	2	2	3	2	2	3	6	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.46A>T	p.Thr16Ser	p.T16S	ENST00000619044	2/2	88	74	14	83	83	0	strelka-varscan-mutect	ZNF883,missense_variant,p.Thr16Ser,ENST00000619044,NM_001101338.1;	A	ENST00000619044	Transcript	missense_variant	957/2051	46/1140	16/379	T/S	Act/Tct		1		-1	ZNF883	HGNC	HGNC:27271	protein_coding	YES		ENSP00000490059	P0CG24		UPI00001D76EC	NM_001101338.1	tolerated(0.34)		2/2		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	112998214	112998214	T	A	1	0	0	0	0	1	0	0	0	18790	1638	57	4		4	ZNF883	9	112998214	Missense_Mutation	SNP	T	C3L-00144_TP	3742693	112998214	25396503	931	5210											
TNFSF15	0	.	GRCh38	chr9	114790584	114790584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgaggtagatgggctggaaCcagttgctacctacttcgca	9	9	12	11	2	0	1	0	0	0	1	1	3	0	2	3	3	4	5	3	3	4	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.624G>T	p.Trp208Cys	p.W208C	ENST00000374045	4/4	265	226	39	194	194	0	strelka-varscan-mutect	TNFSF15,missense_variant,p.Trp208Cys,ENST00000374045,NM_001204344.1,NM_005118.3;TNFSF15,missense_variant,p.Trp131Cys,ENST00000374044,;	A	ENST00000374045	Transcript	missense_variant	738/6687	624/756	208/251	W/C	tgG/tgT		1		-1	TNFSF15	HGNC	HGNC:11931	protein_coding	YES	CCDS6809.1	ENSP00000363157	O95150	A0A0U5JA19	UPI000006F8DF	NM_001204344.1,NM_005118.3	deleterious(0)		4/4		Gene3D:2.60.120.40,Pfam_domain:PF00229,Prints_domain:PR01234,PROSITE_profiles:PS50049,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF24,SMART_domains:SM00207,Superfamily_domains:SSF49842																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	114790584	114790584	C	A	1	0	0	0	0	1	0	0	0	16781	508	18	2		2	TNFSF15	9	114790584	Missense_Mutation	SNP	C	C3L-00144_TP	1792370	114790584	23604133	932	5211											
TNC	0	.	GRCh38	chr9	115063897	115063897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagcccaggcaggtctGtggacctcagtcctcctggg	5	10	13	13	0	2	1	1	1	1	0	4	2	4	2	4	4	1	1	4	4	0	1	rs746469774		C3L-00144_TP	C3L-00144_NB	G	G																c.3659C>T	p.Thr1220Ile	p.T1220I	ENST00000350763	12/28	281	219	62	264	264	0	strelka-varscan-mutect	TNC,missense_variant,p.Thr1220Ile,ENST00000350763,NM_002160.3;TNC,missense_variant,p.Thr1220Ile,ENST00000341037,;TNC,missense_variant,p.Thr1220Ile,ENST00000423613,;TNC,intron_variant,,ENST00000535648,;TNC,intron_variant,,ENST00000542877,;TNC,intron_variant,,ENST00000537320,;TNC,intron_variant,,ENST00000544972,;TNC,upstream_gene_variant,,ENST00000635336,;TNC,intron_variant,,ENST00000498724,;TNC,intron_variant,,ENST00000473855,;TNC,upstream_gene_variant,,ENST00000476680,;	A	ENST00000350763	Transcript	missense_variant	4071/7641	3659/6606	1220/2201	T/I	aCa/aTa	rs746469774	1		-1	TNC	HGNC	HGNC:5318	protein_coding	YES	CCDS6811.1	ENSP00000265131	P24821		UPI000013D5BD	NM_002160.3	tolerated(0.07)		12/28		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs746469774	.												A	3	1	12	115063897	115063897	G	A	1	0	0	0	0	1	0	0	0	16744	1377	48	3		3	TNC	9	115063897	Missense_Mutation	SNP	G	C3L-00144_TP	273313	115063897	23330820	933	5212											
TNC	0	.	GRCh38	chr9	115085984	115085984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagtccaggcctgtgaagcCctcgtggcagatgcactggc	8	7	13	13	1	0	2	0	1	0	1	2	2	1	2	3	3	2	2	3	3	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1747G>A	p.Gly583Ser	p.G583S	ENST00000350763	3/28	234	191	43	235	234	1	strelka-varscan-mutect	TNC,missense_variant,p.Gly583Ser,ENST00000350763,NM_002160.3;TNC,missense_variant,p.Gly583Ser,ENST00000535648,;TNC,missense_variant,p.Gly583Ser,ENST00000341037,;TNC,missense_variant,p.Gly583Ser,ENST00000423613,;TNC,missense_variant,p.Gly583Ser,ENST00000542877,;TNC,missense_variant,p.Gly583Ser,ENST00000537320,;TNC,downstream_gene_variant,,ENST00000534839,;	T	ENST00000350763	Transcript	missense_variant	2159/7641	1747/6606	583/2201	G/S	Ggc/Agc		1		-1	TNC	HGNC	HGNC:5318	protein_coding	YES	CCDS6811.1	ENSP00000265131	P24821		UPI000013D5BD	NM_002160.3	deleterious(0)		3/28		PROSITE_profiles:PS50026,hmmpanther:PTHR19143:SF38,hmmpanther:PTHR19143,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2gy5A03,SMART_domains:SM00181,PD936484																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	115085984	115085984	C	T	1	0	0	0	0	1	0	0	0	16744	623	22	3		3	TNC	9	115085984	Missense_Mutation	SNP	C	C3L-00144_TP	22087	115085984	23308733	934	5213											
PAPPA	0	.	GRCh38	chr9	116207554	116207554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcagaggaggagttggCaggagtagcaacttggccat	11	8	14	8	0	1	1	1	0	0	1	2	4	2	4	2	5	2	4	2	5	2	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1577C>A	p.Ala526Glu	p.A526E	ENST00000328252	3/22	158	144	14	102	102	0	strelka-varscan-mutect	PAPPA,missense_variant,p.Ala526Glu,ENST00000328252,NM_002581.3;	A	ENST00000328252	Transcript	missense_variant	1946/10959	1577/4884	526/1627	A/E	gCa/gAa		1		1	PAPPA	HGNC	HGNC:8602	protein_coding	YES	CCDS6813.1	ENSP00000330658	Q13219		UPI00001E0589	NM_002581.3	deleterious(0)		3/22		Gene3D:3.40.390.10,Pfam_domain:PF05572,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	116207554	116207554	C	A	1	0	0	0	0	1	0	0	0	11512	710	25	2		2	PAPPA	9	116207554	Missense_Mutation	SNP	C	C3L-00144_TP	1121570	116207554	22187163	935	5214											
PAPPA	0	.	GRCh38	chr9	116235584	116235584	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtggtccgggaccctccTctccagatggatgtggcctc	6	9	13	13	1	1	1	0	0	1	1	5	3	3	3	5	5	0	0	5	5	1	0	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2679T>C	p.=	p.P893P	ENST00000328252	7/22	322	273	49	316	316	0	strelka-varscan-mutect	PAPPA,synonymous_variant,p.=,ENST00000328252,NM_002581.3;	C	ENST00000328252	Transcript	synonymous_variant	3048/10959	2679/4884	893/1627	P	ccT/ccC		1		1	PAPPA	HGNC	HGNC:8602	protein_coding	YES	CCDS6813.1	ENSP00000330658	Q13219		UPI00001E0589	NM_002581.3			7/22		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	12	116235584	116235584	T	C	1	0	0	0	0	0	0	0	1	11512	1538	54	5		5	PAPPA	9	116235584	Silent	SNP	T	C3L-00144_TP	28030	116235584	22159133	936	5215											
PAPPA	0	.	GRCh38	chr9	116382433	116382433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tattgtgatgccatcaacaaCcgagccttttgcaactatga	12	12	7	10	1	1	2	1	2	0	0	1	3	1	2	3	0	6	1	3	0	5	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.4716C>A	p.Asn1572Lys	p.N1572K	ENST00000328252	21/22	188	177	11	174	174	0	strelka-varscan-mutect	PAPPA,missense_variant,p.Asn1572Lys,ENST00000328252,NM_002581.3;PAPPA,non_coding_transcript_exon_variant,,ENST00000483254,;	A	ENST00000328252	Transcript	missense_variant	5085/10959	4716/4884	1572/1627	N/K	aaC/aaA		1		1	PAPPA	HGNC	HGNC:8602	protein_coding	YES	CCDS6813.1	ENSP00000330658	Q13219		UPI00001E0589	NM_002581.3	deleterious(0)		21/22		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347,SMART_domains:SM00004																	MODERATE	1	SNV	1			1										PASS		rs1355864464	.												A	3	1	12	116382433	116382433	C	A	1	0	0	0	0	1	0	0	0	11512	506	18	2		2	PAPPA	9	116382433	Missense_Mutation	SNP	C	C3L-00144_TP	146849	116382433	22012284	937	5216											
ASTN2	0	.	GRCh38	chr9	116805672	116805672	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggccttggttcacatgctGggtccggttgttgtaaccat	5	15	12	9	1	1	0	1	0	0	0	2	0	2	0	3	4	2	5	3	4	1	6			C3L-00144_TP	C3L-00144_NB	G	G																c.2203C>T	p.Gln735Ter	p.Q735*	ENST00000361209	12/22	136	126	10	117	117	0	strelka-mutect	ASTN2,stop_gained,p.Gln786Ter,ENST00000313400,;ASTN2,stop_gained,p.Gln735Ter,ENST00000361209,NM_014010.4;ASTN2,stop_gained,p.Gln509Ter,ENST00000373986,;ASTN2,5_prime_UTR_variant,,ENST00000361477,NM_198187.3;	A	ENST00000361209	Transcript	stop_gained	2335/4622	2203/3867	735/1288	Q/*	Cag/Tag	COSM1701600,COSM1701601	1		-1	ASTN2	HGNC	HGNC:17021	protein_coding	YES	CCDS6815.1	ENSP00000354504	O75129		UPI00002116D7	NM_014010.4			12/22		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF2											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												A	4	1	12	116805672	116805672	G	A	1	0	0	0	0	0	1	0	0	1212	1357	47	3		3	ASTN2	9	116805672	Nonsense_Mutation	SNP	G	C3L-00144_TP	423239	116805672	21589045	938	5217											
OR1J1	0	.	GRCh38	chr9	122477309	122477309	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaggaatggaagcataatGgctgtcaatgctgctgtaaa	14	9	11	7	0	1	0	1	0	0	0	1	2	1	2	0	3	3	5	0	3	6	2	rs780844209		C3L-00144_TP	C3L-00144_NB	G	G																c.618C>A	p.=	p.A206A	ENST00000259357	1/1	303	249	54	292	292	0	strelka-varscan-mutect	OR1J1,synonymous_variant,p.=,ENST00000259357,NM_001004451.1;RP11-542K23.9,downstream_gene_variant,,ENST00000412262,;	T	ENST00000259357	Transcript	synonymous_variant	618/969	618/969	206/322	A	gcC/gcA	rs780844209,COSM1459828	1		-1	OR1J1	HGNC	HGNC:8208	protein_coding	YES	CCDS35120.1	ENSP00000259357	Q8NGS3	A0A126GWP9	UPI0000061E79	NM_001004451.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF213,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237											0,1						LOW		SNV			0,1	1										PASS		rs780844209	.												T	2	4	12	122477309	122477309	G	T	1	0	0	0	0	0	0	0	1	11037	1335	47	2		2	OR1J1	9	122477309	Silent	SNP	G	C3L-00144_TP	5671637	122477309	15917408	939	5218											
GARNL3	0	.	GRCh38	chr9	127339668	127339668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatattttcagaagagaGcgtaccactctttggccctc	12	11	8	10	1	2	2	1	0	1	2	3	4	2	2	2	1	2	1	2	1	5	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1052G>T	p.Ser351Ile	p.S351I	ENST00000373387	13/28	292	252	40	210	210	0	strelka-varscan-mutect	GARNL3,missense_variant,p.Ser351Ile,ENST00000373387,NM_032293.4;GARNL3,missense_variant,p.Ser329Ile,ENST00000435213,NM_001286779.1;GARNL3,non_coding_transcript_exon_variant,,ENST00000464616,;GARNL3,missense_variant,p.Ser333Ile,ENST00000373386,;GARNL3,downstream_gene_variant,,ENST00000495172,;GARNL3,upstream_gene_variant,,ENST00000460176,;	T	ENST00000373387	Transcript	missense_variant	1404/3800	1052/3042	351/1013	S/I	aGc/aTc		1		1	GARNL3	HGNC	HGNC:25425	protein_coding	YES	CCDS6869.2	ENSP00000362485	Q5VVW2		UPI0000EE56F2	NM_032293.4	deleterious(0)		13/28		PROSITE_profiles:PS50085,hmmpanther:PTHR15711:SF24,hmmpanther:PTHR15711,Pfam_domain:PF02145,Superfamily_domains:0043732																	MODERATE	1	SNV	1			1										PASS		rs995695949	.												T	3	4	12	127339668	127339668	G	T	1	0	0	0	0	1	0	0	0	6111	971	34	2		2	GARNL3	9	127339668	Missense_Mutation	SNP	G	C3L-00144_TP	4862359	127339668	11055049	940	5219											
FAM129B	0	.	GRCh38	chr9	127506873	127506873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgcacccctgcactgTcctcggtggtggtgtggagg	4	10	15	12	1	1	0	0	0	1	0	3	1	2	1	3	5	2	2	3	5	0	0	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2213A>G	p.Asp738Gly	p.D738G	ENST00000373312	14/14	126	117	9	119	119	0	strelka-mutect	FAM129B,missense_variant,p.Asp738Gly,ENST00000373312,NM_022833.3;FAM129B,missense_variant,p.Asp725Gly,ENST00000373314,NM_001035534.2;LRSAM1,downstream_gene_variant,,ENST00000323301,NM_138361.5;LRSAM1,downstream_gene_variant,,ENST00000300417,NM_001005373.3;LRSAM1,downstream_gene_variant,,ENST00000373324,NM_001190723.2;LRSAM1,downstream_gene_variant,,ENST00000373322,NM_001005374.3;FAM129B,intron_variant,,ENST00000478917,;LRSAM1,downstream_gene_variant,,ENST00000483302,;FAM129B,downstream_gene_variant,,ENST00000468379,;FAM129B,downstream_gene_variant,,ENST00000484348,;FAM129B,downstream_gene_variant,,ENST00000465154,;	C	ENST00000373312	Transcript	missense_variant	2427/3957	2213/2241	738/746	D/G	gAc/gGc		1		-1	FAM129B	HGNC	HGNC:25282	protein_coding	YES	CCDS35145.1	ENSP00000362409	Q96TA1		UPI00001592F0	NM_022833.3	tolerated_low_confidence(0.18)		14/14		hmmpanther:PTHR14392:SF2,hmmpanther:PTHR14392																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	127506873	127506873	T	C	1	0	0	0	0	1	0	0	0	5287	1667	58	5		5	FAM129B	9	127506873	Missense_Mutation	SNP	T	C3L-00144_TP	167205	127506873	10887844	941	5220											
URM1	0	.	GRCh38	chr9	128371399	128371399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggctgcgcccttgtcaGtggaggtggagttcgggtga	6	10	17	8	2	1	1	1	1	0	0	2	3	1	3	1	5	1	2	1	5	0	2			C3L-00144_TP	C3L-00144_NB	G	G																c.19G>T	p.Val7Leu	p.V7L	ENST00000452446	1/4	177	158	19	171	170	1	strelka-varscan-mutect	URM1,missense_variant,p.Val7Leu,ENST00000372850,NM_001265582.1;URM1,missense_variant,p.Val7Leu,ENST00000452446,NM_001135947.2;URM1,missense_variant,p.Val7Leu,ENST00000372853,NM_030914.3;URM1,missense_variant,p.Val7Leu,ENST00000372847,;URM1,missense_variant,p.Val7Leu,ENST00000470840,;	T	ENST00000452446	Transcript	missense_variant	19/2944	19/441	7/146	V/L	Gtg/Ttg	COSM4916750,COSM4916751	1		1	URM1	HGNC	HGNC:28378	protein_coding	YES	CCDS48035.1	ENSP00000412922	Q9BTM9		UPI00017A7D83	NM_001135947.2	tolerated(0.51)		1/4		Gene3D:3.10.20.30,HAMAP:MF_03048,Pfam_domain:PF09138,hmmpanther:PTHR14986,hmmpanther:PTHR14986:SF4,Superfamily_domains:SSF54285											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												T	3	4	12	128371399	128371399	G	T	1	0	0	0	0	1	0	0	0	17559	1029	36	2		2	URM1	9	128371399	Missense_Mutation	SNP	G	C3L-00144_TP	864526	128371399	10023318	942	5221											
HMCN2	0	.	GRCh38	chr9	130349652	130349652	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccccaggtggagtggacCaaggacaggcagtgagtgcc	10	4	16	11	1	0	1	0	1	0	0	0	4	0	4	4	5	1	1	4	5	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.4416C>A	p.=	p.T1472T	ENST00000624552	29/98	92	77	15	92	92	0	strelka-varscan-mutect	HMCN2,synonymous_variant,p.=,ENST00000624552,NM_001291815.1;	A	ENST00000624552	Transcript	synonymous_variant	4416/15610	4416/15180	1472/5059	T	acC/acA		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1			29/98		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		rs934945599	.												A	2	1	12	130349652	130349652	C	A	1	0	0	0	0	0	0	0	1	7112	581	21	2		2	HMCN2	9	130349652	Silent	SNP	C	C3L-00144_TP	1978253	130349652	8045065	943	5222											
TTF1	0	.	GRCh38	chr9	132402640	132402640	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaggagaagaaatgagaTgctggaaatcttttttcctc	14	12	9	6	0	2	3	1	1	1	3	4	6	3	4	1	2	1	1	1	2	4	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.182A>G	p.His61Arg	p.H61R	ENST00000334270	2/11	146	131	15	142	142	0	strelka-varscan-mutect	TTF1,missense_variant,p.His61Arg,ENST00000334270,NM_007344.3;TTF1,intron_variant,,ENST00000612514,NM_001205296.1;	C	ENST00000334270	Transcript	missense_variant	222/3052	182/2718	61/905	H/R	cAt/cGt		1		-1	TTF1	HGNC	HGNC:12397	protein_coding	YES	CCDS6948.1	ENSP00000333920	Q15361	A0A024R8C1	UPI00001B55A7	NM_007344.3	tolerated(0.14)		2/11																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	132402640	132402640	T	C	1	0	0	0	0	1	0	0	0	17228	1464	51	5		5	TTF1	9	132402640	Missense_Mutation	SNP	T	C3L-00144_TP	2052988	132402640	5992077	944	5223											
COL5A1	0	.	GRCh38	chr9	134766454	134766454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcttaaaatcgtacacagGgtgtcacgggtatggacggc	10	10	12	9	3	2	0	1	0	1	0	3	1	2	1	0	4	1	2	0	4	4	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2089G>T	p.Gly697Cys	p.G697C	ENST00000371817	22/66	193	170	23	200	200	0	strelka-varscan-mutect	COL5A1,missense_variant,p.Gly697Cys,ENST00000371817,NM_000093.4;COL5A1,missense_variant,p.Gly697Cys,ENST00000618395,NM_001278074.1;	T	ENST00000371817	Transcript	missense_variant,splice_region_variant	2503/8471	2089/5517	697/1838	G/C	Ggt/Tgt		1		1	COL5A1	HGNC	HGNC:2209	protein_coding	YES	CCDS6982.1	ENSP00000360882	P20908	A0A024R8E5	UPI0000210EE3	NM_000093.4	deleterious(0)		22/66		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	134766454	134766454	G	T	1	0	0	0	0	1	0	0	0	3485	1246	43	2		2	COL5A1	9	134766454	Missense_Mutation	SNP	G	C3L-00144_TP	2363814	134766454	3628263	945	5224											
FCN2	0	.	GRCh38	chr9	134885317	134885317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctacctgcccgactgccGgcccctgactgtgctctgtg	4	10	10	17	2	2	1	0	1	2	0	2	2	2	1	5	1	4	1	5	1	1	1	rs575801515		C3L-00144_TP	C3L-00144_NB	G	G																c.380G>T	p.Arg127Leu	p.R127L	ENST00000291744	5/8	260	230	30	292	292	0	varscan-mutect	FCN2,missense_variant,p.Arg127Leu,ENST00000291744,NM_004108.2;FCN2,missense_variant,p.Arg89Leu,ENST00000350339,NM_015837.2;	T	ENST00000291744	Transcript	missense_variant	390/1057	380/942	127/313	R/L	cGg/cTg	rs575801515,COSM3214424,COSM4684223	1		1	FCN2	HGNC	HGNC:3624	protein_coding	YES	CCDS6983.1	ENSP00000291744	Q15485		UPI000013E075	NM_004108.2	tolerated(0.1)		5/8		PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF165,Pfam_domain:PF00147,Gene3D:3.90.215.10,SMART_domains:SM00186,Superfamily_domains:SSF56496											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs575801515	.												T	3	4	12	134885317	134885317	G	T	1	0	0	0	0	1	0	0	0	5655	1116	39	1		1	FCN2	9	134885317	Missense_Mutation	SNP	G	C3L-00144_TP	118863	134885317	3509400	946	5225											
LCN1	0	.	GRCh38	chr9	135523991	135523991	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgaggggtgaagctcgtggGtgggtcccgcaccctcaccc	5	6	15	15	3	1	1	1	1	0	0	3	2	2	1	4	4	1	2	4	4	1	0	rs776394912		C3L-00144_TP	C3L-00144_NB	G	G																c.403+1G>T		p.X135_splice	ENST00000263598		130	103	27	120	120	0	strelka-varscan-mutect	LCN1,splice_donor_variant,,ENST00000263598,NM_001252619.1,NM_001252618.1,NM_002297.3,NM_001252617.1;LCN1,splice_donor_variant,,ENST00000371781,;	T	ENST00000263598	Transcript	splice_donor_variant	-/776	403/531	135/176			rs776394912	1		1	LCN1	HGNC	HGNC:6525	protein_coding	YES	CCDS6991.1	ENSP00000263598	P31025	A0A024R8D7	UPI0000040631	NM_001252619.1,NM_001252618.1,NM_002297.3,NM_001252617.1				4/6																		HIGH	1	SNV	1			1										PASS		rs776394912	.												T	5	4	12	135523991	135523991	G	T	1	0	0	0	0	0	0	1	0	8586	1275	44	2		2	LCN1	9	135523991	Splice_Site	SNP	G	C3L-00144_TP	638674	135523991	2870726	947	5226											
EXD3	0	.	GRCh38	chr9	137306993	137306993	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggctgggctcggctcgCaggggctgggggcgctctcc	1	7	21	12	3	1	0	0	0	1	0	4	0	1	0	1	8	0	6	1	8	0	0	rs750524262		C3L-00144_TP	C3L-00144_NB	C	C																c.2588G>T	p.Cys863Phe	p.C863F	ENST00000340951	22/22	53	43	10	44	44	0	strelka-varscan-mutect	EXD3,missense_variant,p.Cys863Phe,ENST00000340951,NM_017820.4;NRARP,upstream_gene_variant,,ENST00000356628,NM_001004354.2;EXD3,3_prime_UTR_variant,,ENST00000491734,;EXD3,non_coding_transcript_exon_variant,,ENST00000487745,;	A	ENST00000340951	Transcript	missense_variant	2784/2872	2588/2631	863/876	C/F	tGc/tTc	rs750524262	1		-1	EXD3	HGNC	HGNC:26023	protein_coding	YES	CCDS48066.1	ENSP00000340474	Q8N9H8	A0A140VJP9	UPI00003676BC	NM_017820.4	tolerated(0.7)		22/22		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		rs750524262	.												A	3	1	12	137306993	137306993	C	A	1	0	0	0	0	1	0	0	0	5166	710	25	2		2	EXD3	9	137306993	Missense_Mutation	SNP	C	C3L-00144_TP	1783002	137306993	1087724	948	5227											
CACNA1B	0	.	GRCh38	chr9	138023694	138023694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcggcaccgggcccggcacaAggcgcagcctgctcacgagg	7	2	16	16	5	1	0	1	0	0	0	1	1	1	0	3	5	2	4	3	5	1	0	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2951A>G	p.Lys984Arg	p.K984R	ENST00000371372	19/47	331	298	33	291	290	1	strelka-varscan-mutect	CACNA1B,missense_variant,p.Lys984Arg,ENST00000371372,NM_000718.3;CACNA1B,missense_variant,p.Lys984Arg,ENST00000371363,;CACNA1B,missense_variant,p.Lys985Arg,ENST00000371355,;CACNA1B,missense_variant,p.Lys985Arg,ENST00000371357,;CACNA1B,missense_variant,p.Lys984Arg,ENST00000277549,;CACNA1B,missense_variant,p.Lys984Arg,ENST00000277551,NM_001243812.1;	G	ENST00000371372	Transcript	missense_variant	3096/9790	2951/7020	984/2339	K/R	aAg/aGg		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3	tolerated(0.56)		19/47																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	12	138023694	138023694	A	G	1	0	0	0	0	1	0	0	0	2227	72	3	5		5	CACNA1B	9	138023694	Missense_Mutation	SNP	A	C3L-00144_TP	716701	138023694	371023	949	5228											
CACNA1B	0	.	GRCh38	chr9	138112453	138112453	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggagatttccgttgtGtgggccaatctgccccagaa	10	9	13	9	1	1	2	0	0	1	2	2	4	2	3	4	3	1	1	4	3	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.5484G>T	p.=	p.V1828V	ENST00000371372	40/47	290	229	61	209	209	0	strelka-varscan-mutect	CACNA1B,synonymous_variant,p.=,ENST00000371372,NM_000718.3;CACNA1B,synonymous_variant,p.=,ENST00000371363,;CACNA1B,synonymous_variant,p.=,ENST00000371355,;CACNA1B,synonymous_variant,p.=,ENST00000371357,;CACNA1B,synonymous_variant,p.=,ENST00000277549,;CACNA1B,synonymous_variant,p.=,ENST00000277551,NM_001243812.1;	T	ENST00000371372	Transcript	synonymous_variant	5629/9790	5484/7020	1828/2339	V	gtG/gtT		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3			40/47		Pfam_domain:PF08763,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	12	138112453	138112453	G	T	1	0	0	0	0	0	0	0	1	2227	1364	48	2		2	CACNA1B	9	138112453	Silent	SNP	G	C3L-00144_TP	88759	138112453	282264	950	5229											
CACNA1B	0	.	GRCh38	chr9	138112498	138112498	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggacttgctggtaccaccCcataagcgtaagtgtgaggg	9	10	13	9	1	0	1	0	1	0	0	0	2	0	2	3	3	3	3	3	3	3	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.5529C>A	p.=	p.P1843P	ENST00000371372	40/47	209	167	42	147	147	0	strelka-varscan-mutect	CACNA1B,synonymous_variant,p.=,ENST00000371372,NM_000718.3;CACNA1B,synonymous_variant,p.=,ENST00000371363,;CACNA1B,synonymous_variant,p.=,ENST00000371355,;CACNA1B,synonymous_variant,p.=,ENST00000371357,;CACNA1B,synonymous_variant,p.=,ENST00000277549,;CACNA1B,synonymous_variant,p.=,ENST00000277551,NM_001243812.1;	A	ENST00000371372	Transcript	synonymous_variant	5674/9790	5529/7020	1843/2339	P	ccC/ccA		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3			40/47		Pfam_domain:PF08763,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161																	LOW	1	SNV	5			1										PASS		rs1258959076	.												A	2	1	12	138112498	138112498	C	A	1	0	0	0	0	0	0	0	1	2227	610	22	2		2	CACNA1B	9	138112498	Silent	SNP	C	C3L-00144_TP	45	138112498	282219	951	5230											
CACNA1B	0	.	GRCh38	chr9	138121848	138121848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggccaccaactcgggccGctcctccaggacttcctacg	6	8	10	17	3	0	0	0	0	0	0	4	1	3	1	6	3	2	1	6	3	2	2	rs76756995		C3L-00144_TP	C3L-00144_NB	G	G																c.6869G>A	p.Arg2290His	p.R2290H	ENST00000371372	47/47	311	280	31	267	266	1	strelka-varscan-mutect	CACNA1B,missense_variant,p.Arg2290His,ENST00000371372,NM_000718.3;CACNA1B,missense_variant,p.Arg2288His,ENST00000371363,;CACNA1B,missense_variant,p.Arg2291His,ENST00000371355,;CACNA1B,missense_variant,p.Arg2289His,ENST00000371357,;CACNA1B,missense_variant,p.Ala2228Thr,ENST00000277549,;CACNA1B,missense_variant,p.Ala2228Thr,ENST00000277551,NM_001243812.1;	A	ENST00000371372	Transcript	missense_variant	7014/9790	6869/7020	2290/2339	R/H	cGc/cAc	rs76756995	1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3	deleterious(0.04)		47/47		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs76756995	.												A	3	1	12	138121848	138121848	G	A	1	0	0	0	0	1	0	0	0	2227	1087	38	1		1	CACNA1B	9	138121848	Missense_Mutation	SNP	G	C3L-00144_TP	9350	138121848	272869	952	5231											
ZMYND11	0	.	GRCh38	chr10	239509	239509	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caattgcttctccacaatacCgtgattttctatggaggttg	9	15	8	9	1	2	1	0	1	2	0	3	2	2	2	2	2	2	2	2	2	4	7	rs761293702		C3L-00144_TP	C3L-00144_NB	C	C																c.681C>A	p.=	p.T227T	ENST00000397962	7/15	128	115	13	100	100	0	varscan-mutect	ZMYND11,synonymous_variant,p.=,ENST00000397962,NM_006624.5;ZMYND11,synonymous_variant,p.=,ENST00000381591,;ZMYND11,synonymous_variant,p.=,ENST00000309776,NM_001202466.1;ZMYND11,synonymous_variant,p.=,ENST00000397959,NM_001202465.1;ZMYND11,synonymous_variant,p.=,ENST00000381604,;ZMYND11,synonymous_variant,p.=,ENST00000402736,;ZMYND11,synonymous_variant,p.=,ENST00000627286,;ZMYND11,synonymous_variant,p.=,ENST00000381607,NM_001202464.1;ZMYND11,synonymous_variant,p.=,ENST00000381584,;ZMYND11,synonymous_variant,p.=,ENST00000509513,NM_212479.3;ZMYND11,synonymous_variant,p.=,ENST00000558098,NM_001202467.1,NM_001202468.1;ZMYND11,synonymous_variant,p.=,ENST00000602682,;ZMYND11,synonymous_variant,p.=,ENST00000403354,;ZMYND11,downstream_gene_variant,,ENST00000439456,;ZMYND11,downstream_gene_variant,,ENST00000397955,;ZMYND11,upstream_gene_variant,,ENST00000473115,;ZMYND11,upstream_gene_variant,,ENST00000488275,;	A	ENST00000397962	Transcript	synonymous_variant	1022/4306	681/1809	227/602	T	acC/acA	rs761293702	1		1	ZMYND11	HGNC	HGNC:16966	protein_coding	YES	CCDS7052.2	ENSP00000381053	Q15326		UPI0000458A5F	NM_006624.5			7/15		PROSITE_profiles:PS50014,hmmpanther:PTHR24102,Gene3D:1.20.920.10,Pfam_domain:PF00439,SMART_domains:SM00297,Superfamily_domains:SSF47370																	LOW	1	SNV	1			1										PASS		rs761293702	.												A	2	1	12	239509	239509	C	A	1	0	0	0	0	0	0	0	1	18286	639	23	1		1	ZMYND11	10	239509	Silent	SNP	C	C3L-00144_TP		239509	133557913	953	5232											
LARP4B	0	.	GRCh38	chr10	825252	825252	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaatattgaaggactttCtaataacccaggtcccctct	12	13	6	10	0	2	1	0	1	2	0	3	2	3	2	3	2	1	1	3	2	6	6	rs765670503		C3L-00144_TP	C3L-00144_NB	C	C																c.1297G>T	p.Glu433Ter	p.E433*	ENST00000612396	13/18	311	284	27	295	295	0	strelka-varscan-mutect	LARP4B,stop_gained,p.Glu433Ter,ENST00000612396,NM_015155.2;LARP4B,stop_gained,p.Glu433Ter,ENST00000316157,;LARP4B,upstream_gene_variant,,ENST00000448368,;LARP4B,upstream_gene_variant,,ENST00000609318,;	A	ENST00000612396	Transcript	stop_gained	1614/8546	1297/2217	433/738	E/*	Gaa/Taa	rs765670503	1		-1	LARP4B	HGNC	HGNC:28987	protein_coding	YES	CCDS31131.1	ENSP00000482767	Q92615		UPI00001F8C87	NM_015155.2			13/18		hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF43																	HIGH	1	SNV	5			1										PASS		rs765670503	.												A	4	1	12	825252	825252	C	A	1	0	0	0	0	0	1	0	0	8542	922	32	2		2	LARP4B	10	825252	Nonsense_Mutation	SNP	C	C3L-00144_TP	585743	825252	132972170	954	5233											
ADARB2	0	.	GRCh38	chr10	1363488	1363488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtccgtgccggggcccGggcccccgcccatggccagg	4	4	16	17	4	0	1	0	1	0	0	1	1	1	1	7	5	1	0	7	5	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.617C>A	p.Pro206Gln	p.P206Q	ENST00000381312	3/10	39	26	13	28	28	0	strelka-varscan-mutect	ADARB2,missense_variant,p.Pro206Gln,ENST00000381312,NM_018702.3;RP11-398B16.2,upstream_gene_variant,,ENST00000432987,;	T	ENST00000381312	Transcript	missense_variant	943/8421	617/2220	206/739	P/Q	cCg/cAg		1		-1	ADARB2	HGNC	HGNC:227	protein_coding	YES	CCDS7058.1	ENSP00000370713	Q9NS39		UPI0000071776	NM_018702.3	tolerated(0.44)		3/10		hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF17																	MODERATE	1	SNV	1			1										PASS		rs1175021884	.												T	3	4	12	1363488	1363488	G	T	1	0	0	0	0	1	0	0	0	327	1116	39	1		1	ADARB2	10	1363488	Missense_Mutation	SNP	G	C3L-00144_TP	538236	1363488	132433934	955	5234											
ADARB2	0	.	GRCh38	chr10	1363562	1363563	+	Frame_Shift_Ins	INS	-	-	T																															acctgagtgccagctccgccINSgcgcgcatcttggccttctt																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.542_543insA	p.Ala182GlyfsTer207	p.A182Gfs*207	ENST00000381312	3/10	37	32	5	48	48	0	sindel-varindel-pindel	ADARB2,frameshift_variant,p.Ala182GlyfsTer207,ENST00000381312,NM_018702.3;RP11-398B16.2,upstream_gene_variant,,ENST00000432987,;	T	ENST00000381312	Transcript	frameshift_variant	868-869/8421	542-543/2220	181/739	A/AX	gcg/gcAg		1		-1	ADARB2	HGNC	HGNC:227	protein_coding	YES	CCDS7058.1	ENSP00000370713	Q9NS39		UPI0000071776	NM_018702.3			3/10		PROSITE_profiles:PS50137,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF17,Pfam_domain:PF00035,Gene3D:3.30.160.20,SMART_domains:SM00358,Superfamily_domains:SSF54768																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	12	1363562	1363562	-	T	1	0	1	1	0	0	0	0	0	327	639	23	0		0	ADARB2	10	1363562	Frame_Shift_Ins	INS	-	C3L-00144_TP	74	1363562	132433860	956	5235											
AKR1C2	0	.	GRCh38	chr10	4995754	4995754	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacttcctgtatctcttattAccatggttcttctcgatggg	7	17	7	10	1	3	0	0	0	3	0	6	1	4	0	2	2	2	2	2	2	4	6	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.680+2T>A		p.X227_splice	ENST00000380753		184	167	17	151	151	0	varscan-mutect	AKR1C2,splice_donor_variant,,ENST00000380753,NM_205845.2,NM_001354.5;AKR1C2,splice_donor_variant,,ENST00000421196,;AKR1C2,downstream_gene_variant,,ENST00000455190,NM_001135241.2;AKR1C2,downstream_gene_variant,,ENST00000604507,;RP11-499O7.7,intron_variant,,ENST00000451575,;RP11-499O7.7,upstream_gene_variant,,ENST00000440414,;AKR1C2,downstream_gene_variant,,ENST00000604184,;AKR1C2,splice_donor_variant,,ENST00000460124,;	T	ENST00000380753	Transcript	splice_donor_variant	-/3756	680/972	227/323				1		-1	AKR1C2	HGNC	HGNC:385	protein_coding	YES	CCDS7062.1	ENSP00000370129	P52895		UPI0000111D9F	NM_205845.2,NM_001354.5				6/8																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	12	4995754	4995754	A	T	1	0	0	0	0	0	0	1	0	554	405	14	4		4	AKR1C2	10	4995754	Splice_Site	SNP	A	C3L-00144_TP	3632192	4995754	128801668	957	5236											
IL15RA	0	.	GRCh38	chr10	5960445	5960445	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgccgtgggaggactCatgactgcttatctctgtgg	5	11	17	8	1	2	1	1	1	1	0	3	3	2	3	1	5	2	1	1	5	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.763G>T	p.Glu255Ter	p.E255*	ENST00000397248	5/8	359	282	77	343	343	0	strelka-varscan-mutect	IL15RA,stop_gained,p.Glu133Ter,ENST00000525219,NM_001243539.1;IL15RA,stop_gained,p.Glu255Ter,ENST00000397248,NM_001256765.1;IL15RA,stop_gained,p.Glu169Ter,ENST00000379977,NM_002189.3;IL15RA,stop_gained,p.Glu220Ter,ENST00000622442,;IL15RA,stop_gained,p.Glu220Ter,ENST00000620345,;IL15RA,stop_gained,p.Glu220Ter,ENST00000397251,;IL15RA,stop_gained,p.Glu136Ter,ENST00000528354,NM_172200.2;IL15RA,stop_gained,p.Glu220Ter,ENST00000620865,;IL15RA,stop_gained,p.Glu72Ter,ENST00000447291,;IL15RA,stop_gained,p.Glu100Ter,ENST00000397246,;IL15RA,stop_gained,p.Glu169Ter,ENST00000397255,;IL15RA,stop_gained,p.Glu132Ter,ENST00000453922,;IL15RA,stop_gained,p.Glu74Ter,ENST00000532039,;IL15RA,stop_gained,p.Glu136Ter,ENST00000530685,;IL15RA,stop_gained,p.Glu42Ter,ENST00000435171,;IL15RA,stop_gained,p.Glu71Ter,ENST00000379971,;IL15RA,stop_gained,p.Glu71Ter,ENST00000397250,;IL15RA,stop_gained,p.Glu136Ter,ENST00000429135,;IL15RA,non_coding_transcript_exon_variant,,ENST00000534292,;IL15RA,non_coding_transcript_exon_variant,,ENST00000379972,;IL15RA,non_coding_transcript_exon_variant,,ENST00000532948,;IL15RA,non_coding_transcript_exon_variant,,ENST00000379974,;	A	ENST00000397248	Transcript	stop_gained	777/1799	763/1062	255/353	E/*	Gag/Tag		1		-1	IL15RA	HGNC	HGNC:5978	protein_coding	YES	CCDS73065.1	ENSP00000380421		A0A0A0MS77	UPI00024F9753	NM_001256765.1			5/8		hmmpanther:PTHR15060,hmmpanther:PTHR15060:SF0																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	5960445	5960445	C	A	1	0	0	0	0	0	1	0	0	7540	835	29	2		2	IL15RA	10	5960445	Nonsense_Mutation	SNP	C	C3L-00144_TP	964691	5960445	127836977	958	5237											
PRKCQ	0	.	GRCh38	chr10	6497235	6497235	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttacgtcggcactggtagcCctgtttgttcaggcccctgt	4	13	11	13	2	1	0	1	0	0	0	2	0	1	0	3	3	2	4	3	3	2	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.559G>T	p.Gly187Cys	p.G187C	ENST00000263125	6/18	334	299	35	267	266	1	strelka-varscan-mutect	PRKCQ,missense_variant,p.Gly187Cys,ENST00000263125,NM_001323265.1,NM_006257.4,NM_001282644.1;PRKCQ,missense_variant,p.Gly62Cys,ENST00000539722,NM_001323266.1,NM_001282645.1;PRKCQ,missense_variant,p.Gly187Cys,ENST00000397176,NM_001242413.2;PRKCQ,missense_variant,p.Gly151Cys,ENST00000610727,;	A	ENST00000263125	Transcript	missense_variant	659/3285	559/2121	187/706	G/C	Ggc/Tgc		1		-1	PRKCQ	HGNC	HGNC:9410	protein_coding	YES	CCDS7079.1	ENSP00000263125	Q04759		UPI000012DF74	NM_001323265.1,NM_006257.4,NM_001282644.1	deleterious(0)		6/18		Gene3D:3.30.60.20,Pfam_domain:PF00130,PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501105,PROSITE_patterns:PS00479,PROSITE_profiles:PS50081,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF181,SMART_domains:SM00109,Superfamily_domains:SSF57889																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	6497235	6497235	C	A	1	0	0	0	0	1	0	0	0	12648	623	22	2		2	PRKCQ	10	6497235	Missense_Mutation	SNP	C	C3L-00144_TP	536790	6497235	127300187	959	5238											
ITIH5	0	.	GRCh38	chr10	7569776	7569776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacaacaaagtggggatCaccatccactgccagagcag	14	5	9	13	0	1	1	1	0	0	1	3	2	3	2	4	2	3	1	4	2	2	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2041G>T	p.Asp681Tyr	p.D681Y	ENST00000397146	12/14	101	73	28	78	78	0	strelka-varscan-mutect	ITIH5,missense_variant,p.Asp681Tyr,ENST00000397146,NM_030569.6;ITIH5,missense_variant,p.Asp467Tyr,ENST00000613909,NM_032817.5;ITIH5,downstream_gene_variant,,ENST00000397145,NM_001001851.2;ITIH5,non_coding_transcript_exon_variant,,ENST00000473591,;ITIH5,downstream_gene_variant,,ENST00000434980,;ITIH5,non_coding_transcript_exon_variant,,ENST00000492668,;ITIH5,downstream_gene_variant,,ENST00000476417,;ITIH5,downstream_gene_variant,,ENST00000468389,;	A	ENST00000397146	Transcript	missense_variant	2120/6721	2041/2829	681/942	D/Y	Gat/Tat		1		-1	ITIH5	HGNC	HGNC:21449	protein_coding	YES		ENSP00000380333		C9J2H1	UPI000014D02E	NM_030569.6	deleterious(0)		12/14		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF62																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	7569776	7569776	C	A	1	0	0	0	0	1	0	0	0	7813	826	29	2		2	ITIH5	10	7569776	Missense_Mutation	SNP	C	C3L-00144_TP	1072541	7569776	126227646	960	5239											
MCM10	0	.	GRCh38	chr10	13175642	13175642	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttctggggaaacgactcAacccatctgtgtggaagcct	11	9	11	10	1	3	0	1	0	2	0	3	3	3	2	2	3	3	1	2	3	4	1	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.728A>C	p.Gln243Pro	p.Q243P	ENST00000484800	6/20	120	112	8	108	108	0	strelka-varscan-mutect	MCM10,missense_variant,p.Gln242Pro,ENST00000378694,;MCM10,missense_variant,p.Gln242Pro,ENST00000378714,NM_018518.4;MCM10,missense_variant,p.Gln243Pro,ENST00000484800,NM_182751.2;MCM10,downstream_gene_variant,,ENST00000479669,;	C	ENST00000484800	Transcript	missense_variant	831/3157	728/2628	243/875	Q/P	cAa/cCa		1		1	MCM10	HGNC	HGNC:18043	protein_coding	YES	CCDS7096.1	ENSP00000418268	Q7L590		UPI000013C5E2	NM_182751.2	tolerated(0.13)		6/20		hmmpanther:PTHR13454																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	13175642	13175642	A	C	1	0	0	0	0	1	0	0	0	9317	130	5	5		5	MCM10	10	13175642	Missense_Mutation	SNP	A	C3L-00144_TP	5605866	13175642	120621780	961	5240											
ITGA8	0	.	GRCh38	chr10	15558177	15558177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaaggcgctgagctcaGgggtgtcctctggggaggca	9	6	17	9	1	2	1	1	1	1	0	3	2	3	2	1	6	1	4	1	6	2	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2663C>G	p.Pro888Arg	p.P888R	ENST00000378076	26/30	193	171	22	137	137	0	strelka-varscan-mutect	ITGA8,missense_variant,p.Pro888Arg,ENST00000378076,NM_003638.2,NM_001291494.1;	C	ENST00000378076	Transcript	missense_variant	3017/6755	2663/3192	888/1063	P/R	cCt/cGt		1		-1	ITGA8	HGNC	HGNC:6144	protein_coding	YES	CCDS31155.1	ENSP00000367316	P53708		UPI00001D80A0	NM_003638.2,NM_001291494.1	tolerated(0.05)		26/30		Gene3D:1jv2A04,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	15558177	15558177	G	C	1	0	0	0	0	1	0	0	0	7789	1000	35	4		4	ITGA8	10	15558177	Missense_Mutation	SNP	G	C3L-00144_TP	2382535	15558177	118239245	962	5241											
ITGA8	0	.	GRCh38	chr10	15604290	15604290	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatatgctccttcccctTcatttcttgcatttattatg	6	20	3	12	0	3	0	2	0	1	0	5	0	5	0	3	0	2	2	3	0	3	9	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2036A>T	p.Glu679Val	p.E679V	ENST00000378076	20/30	214	167	47	205	204	1	strelka-varscan-mutect	ITGA8,missense_variant,p.Glu679Val,ENST00000378076,NM_003638.2,NM_001291494.1;ITGA8,upstream_gene_variant,,ENST00000477064,;	A	ENST00000378076	Transcript	missense_variant	2390/6755	2036/3192	679/1063	E/V	gAa/gTa		1		-1	ITGA8	HGNC	HGNC:6144	protein_coding	YES	CCDS31155.1	ENSP00000367316	P53708		UPI00001D80A0	NM_003638.2,NM_001291494.1	tolerated(0.32)		20/30		Gene3D:2.60.40.1510,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		rs1338527059	.												A	3	1	12	15604290	15604290	T	A	1	0	0	0	0	1	0	0	0	7789	1783	62	4		4	ITGA8	10	15604290	Missense_Mutation	SNP	T	C3L-00144_TP	46113	15604290	118193132	963	5242											
MRC1	0	.	GRCh38	chr10	17863653	17863653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccatcgaggaagaggttcGgttcacccactggaattcag	11	8	12	10	2	2	1	2	0	0	1	4	5	2	3	2	4	0	2	2	4	2	3	rs781837322		C3L-00144_TP	C3L-00144_NB	G	G																c.1754G>T	p.Arg585Leu	p.R585L	ENST00000569591	11/30	265	205	60	220	220	0	strelka-varscan-mutect	MRC1,missense_variant,p.Arg585Leu,ENST00000569591,NM_002438.3;RP11-457D2.3,intron_variant,,ENST00000442231,;	T	ENST00000569591	Transcript	missense_variant	1876/5198	1754/4371	585/1456	R/L	cGg/cTg	rs781837322	1		1	MRC1	HGNC	HGNC:7228	protein_coding	YES	CCDS7123.2	ENSP00000455897	P22897		UPI000012EB9A	NM_002438.3	tolerated(1)		11/30		PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF73,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		rs781837322	.												T	3	4	12	17863653	17863653	G	T	1	0	0	0	0	1	0	0	0	9722	1116	39	1		1	MRC1	10	17863653	Missense_Mutation	SNP	G	C3L-00144_TP	2259363	17863653	115933769	964	5243											
MALRD1	0	.	GRCh38	chr10	19567688	19567688	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacatctcttttaccccaGagtgtgtgactggaggtaag	10	12	11	8	0	1	3	0	2	1	1	2	4	1	4	2	2	1	1	2	2	2	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.5665G>T	p.Glu1889Ter	p.E1889*	ENST00000454679	33/40	162	127	35	147	146	1	strelka-varscan-mutect	MALRD1,stop_gained,p.Glu1889Ter,ENST00000454679,NM_001142308.2;MALRD1,stop_gained,p.Glu1268Ter,ENST00000377266,;MALRD1,stop_gained,p.Glu240Ter,ENST00000377265,;	T	ENST00000454679	Transcript	stop_gained	5833/6880	5665/6471	1889/2156	E/*	Gag/Tag		1		1	MALRD1	HGNC	HGNC:24331	protein_coding	YES	CCDS73071.1	ENSP00000412763	Q5VYJ5		UPI000387C99A	NM_001142308.2			33/40		PROSITE_profiles:PS50060,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF86,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	19567688	19567688	G	T	1	0	0	0	0	0	1	0	0	9121	943	33	2		2	MALRD1	10	19567688	Nonsense_Mutation	SNP	G	C3L-00144_TP	1704035	19567688	114229734	965	5244											
PLXDC2	0	.	GRCh38	chr10	20279729	20279729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagcagatggcctgcgatGaagtttagaagaggctctgg	11	8	14	8	1	1	4	0	1	1	3	1	5	1	4	2	3	2	3	2	3	4	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1500G>A	p.Met500Ile	p.M500I	ENST00000377252	14/14	293	270	23	234	234	0	strelka-varscan-mutect	PLXDC2,missense_variant,p.Met500Ile,ENST00000377252,NM_032812.8;PLXDC2,missense_variant,p.Met451Ile,ENST00000377242,NM_001282736.1;PLXDC2,non_coding_transcript_exon_variant,,ENST00000377238,;	A	ENST00000377252	Transcript	missense_variant	2341/12468	1500/1590	500/529	M/I	atG/atA		1		1	PLXDC2	HGNC	HGNC:21013	protein_coding	YES	CCDS7132.1	ENSP00000366460	Q6UX71		UPI0000048F2C	NM_032812.8	deleterious(0.01)		14/14		hmmpanther:PTHR13055:SF11,hmmpanther:PTHR13055																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	20279729	20279729	G	A	1	0	0	0	0	1	0	0	0	12224	1290	45	3		3	PLXDC2	10	20279729	Missense_Mutation	SNP	G	C3L-00144_TP	712041	20279729	113517693	966	5245											
SKIDA1	0	.	GRCh38	chr10	21517525	21517525	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgcttggtcttgaggaCgcgctcggttttgcaggagg	4	11	16	10	4	1	1	0	1	1	0	2	3	1	3	1	5	2	4	1	5	0	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.298G>T	p.Val100Phe	p.V100F	ENST00000449193	4/4	110	104	6	95	95	0	strelka-mutect	SKIDA1,missense_variant,p.Val100Phe,ENST00000449193,NM_207371.3;SKIDA1,missense_variant,p.Val100Phe,ENST00000444772,;SKIDA1,downstream_gene_variant,,ENST00000633225,;SKIDA1,downstream_gene_variant,,ENST00000487107,;	A	ENST00000449193	Transcript	missense_variant	2551/6598	298/2727	100/908	V/F	Gtc/Ttc		1		-1	SKIDA1	HGNC	HGNC:32697	protein_coding	YES	CCDS44363.1	ENSP00000410041		E9PAX1	UPI00015386B3	NM_207371.3	deleterious(0)		4/4		hmmpanther:PTHR23187:SF2,hmmpanther:PTHR23187																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	12	21517525	21517525	C	A	1	0	0	0	0	1	0	0	0	14620	536	19	1		1	SKIDA1	10	21517525	Missense_Mutation	SNP	C	C3L-00144_TP	1237796	21517525	112279897	967	5246											
GPR158	0	.	GRCh38	chr10	25598125	25598125	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaacggaagagtccagtagCctacccacagaaagccaaga	17	3	9	12	1	0	3	0	0	0	3	1	4	1	4	4	1	4	1	4	1	6	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2499C>G	p.Ser833Arg	p.S833R	ENST00000376351	11/11	205	156	49	176	176	0	strelka-varscan-mutect	GPR158,missense_variant,p.Ser833Arg,ENST00000376351,NM_020752.2;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	G	ENST00000376351	Transcript	missense_variant	2858/6959	2499/3648	833/1215	S/R	agC/agG		1		1	GPR158	HGNC	HGNC:23689	protein_coding	YES	CCDS31166.1	ENSP00000365529	Q5T848		UPI0000199875	NM_020752.2	tolerated(0.1)		11/11		Low_complexity_(Seg):seg,hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	25598125	25598125	C	G	1	0	0	0	0	1	0	0	0	6549	738	26	4		4	GPR158	10	25598125	Missense_Mutation	SNP	C	C3L-00144_TP	4080600	25598125	108199297	968	5247											
GPR158	0	.	GRCh38	chr10	25598270	25598270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtgcaagtcagcaagcGctcacaacctcagctcagag	11	7	11	12	1	4	1	4	0	0	1	4	1	4	1	1	1	5	4	1	1	3	0	rs141827771		C3L-00144_TP	C3L-00144_NB	G	G																c.2644G>T	p.Ala882Ser	p.A882S	ENST00000376351	11/11	177	132	45	177	177	0	strelka-varscan-mutect	GPR158,missense_variant,p.Ala882Ser,ENST00000376351,NM_020752.2;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	T	ENST00000376351	Transcript	missense_variant	3003/6959	2644/3648	882/1215	A/S	Gct/Tct	rs141827771,COSM1603344,COSM2133819	1		1	GPR158	HGNC	HGNC:23689	protein_coding	YES	CCDS31166.1	ENSP00000365529	Q5T848		UPI0000199875	NM_020752.2	deleterious(0)		11/11		hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs141827771	.												T	3	4	12	25598270	25598270	G	T	1	0	0	0	0	1	0	0	0	6549	1087	38	1		1	GPR158	10	25598270	Missense_Mutation	SNP	G	C3L-00144_TP	145	25598270	108199152	969	5248											
MYO3A	0	.	GRCh38	chr10	26125552	26125552	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaactttatatggacgtctCtttagttggatagtcaattg	12	16	8	5	1	2	0	1	0	1	0	3	2	2	2	0	2	1	1	0	2	7	8	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2058C>T	p.=	p.L686L	ENST00000265944	19/35	373	293	80	338	338	0	strelka-varscan-mutect	MYO3A,synonymous_variant,p.=,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;	T	ENST00000265944	Transcript	synonymous_variant	2224/5581	2058/4851	686/1616	L	ctC/ctT		1		1	MYO3A	HGNC	HGNC:7601	protein_coding	YES	CCDS7148.1	ENSP00000265944	Q8NEV4		UPI000014140A	NM_017433.4			19/35		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF387,SMART_domains:SM00242,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	26125552	26125552	C	T	1	0	0	0	0	0	0	0	1	10077	900	32	3		3	MYO3A	10	26125552	Silent	SNP	C	C3L-00144_TP	527282	26125552	107671870	970	5249											
APBB1IP	0	.	GRCh38	chr10	26492375	26492375	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaatgttcagcactttgctgGgagagatggatcttctgact	10	13	11	7	0	3	2	1	1	2	1	3	5	3	4	0	2	2	3	0	2	1	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.49G>T	p.Gly17Ter	p.G17*	ENST00000376236	3/15	122	107	15	105	104	1	strelka-varscan-mutect	APBB1IP,stop_gained,p.Gly17Ter,ENST00000376236,NM_019043.3;APBB1IP,stop_gained,p.Gly17Ter,ENST00000356785,;	T	ENST00000376236	Transcript	stop_gained	504/2771	49/2001	17/666	G/*	Gga/Tga		1		1	APBB1IP	HGNC	HGNC:17379	protein_coding	YES	CCDS31167.1	ENSP00000365411	Q7Z5R6		UPI00001AF165	NM_019043.3			3/15		hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF14																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	12	26492375	26492375	G	T	1	0	0	0	0	0	1	0	0	880	1233	43	2		2	APBB1IP	10	26492375	Nonsense_Mutation	SNP	G	C3L-00144_TP	366823	26492375	107305047	971	5250											
PDSS1	0	.	GRCh38	chr10	26704734	26704734	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtccaaatgtatgtcgtAtatcacggtaagtttacagt	11	14	8	8	2	1	0	1	0	0	0	3	0	2	0	2	1	1	4	2	1	6	6	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.220A>T	p.Ile74Leu	p.I74L	ENST00000376215	3/12	306	283	23	314	314	0	strelka-varscan-mutect	PDSS1,missense_variant,p.Ile74Leu,ENST00000376215,NM_014317.3;PDSS1,upstream_gene_variant,,ENST00000473224,;	T	ENST00000376215	Transcript	missense_variant	273/1626	220/1248	74/415	I/L	Ata/Tta		1		1	PDSS1	HGNC	HGNC:17759	protein_coding	YES	CCDS31168.1	ENSP00000365388	Q5T2R2		UPI000013DB22	NM_014317.3	tolerated(0.42)		3/12		hmmpanther:PTHR12001,hmmpanther:PTHR12001:SF47																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	26704734	26704734	A	T	1	0	0	0	0	1	0	0	0	11781	449	16	4		4	PDSS1	10	26704734	Missense_Mutation	SNP	A	C3L-00144_TP	212359	26704734	107092688	972	5251											
ANKRD26	0	.	GRCh38	chr10	27043526	27043526	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtttcagatgactgagtTaagtcatcaacatcatccat	12	13	7	9	0	4	3	4	2	0	1	5	3	5	3	1	0	1	3	1	0	2	2	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2061A>G	p.=	p.L687L	ENST00000376087	20/34	179	164	15	135	135	0	strelka-varscan-mutect	ANKRD26,synonymous_variant,p.=,ENST00000436985,;ANKRD26,synonymous_variant,p.=,ENST00000376087,NM_014915.2,NM_001256053.1;ANKRD26,non_coding_transcript_exon_variant,,ENST00000490015,;	C	ENST00000376087	Transcript	synonymous_variant	2227/6591	2061/5133	687/1710	L	ttA/ttG		1		-1	ANKRD26	HGNC	HGNC:29186	protein_coding	YES	CCDS41499.1	ENSP00000365255	Q9UPS8		UPI000006FC41	NM_014915.2,NM_001256053.1			20/34		hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF24																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	12	27043526	27043526	T	C	1	0	0	0	0	0	0	0	1	757	1751	61	5		5	ANKRD26	10	27043526	Silent	SNP	T	C3L-00144_TP	338792	27043526	106753896	973	5252											
PTCHD3	0	.	GRCh38	chr10	27413712	27413712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacgaagcgccgctccGccttggccgggctccccaca	5	5	11	20	5	0	0	0	0	0	0	2	1	2	0	7	2	2	3	7	2	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.539C>A	p.Ala180Glu	p.A180E	ENST00000438700	1/4	129	103	26	120	120	0	strelka-varscan-mutect	PTCHD3,missense_variant,p.Ala180Glu,ENST00000438700,NM_001034842.3;PTCHD3,missense_variant,p.Ala180Glu,ENST00000622555,;	T	ENST00000438700	Transcript	missense_variant	657/2529	539/2304	180/767	A/E	gCg/gAg		1		-1	PTCHD3	HGNC	HGNC:24776	protein_coding	YES	CCDS31173.1	ENSP00000417658	Q3KNS1		UPI000004E892	NM_001034842.3	tolerated(0.13)		1/4		Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	27413712	27413712	G	T	1	0	0	0	0	1	0	0	0	12886	1087	38	1		1	PTCHD3	10	27413712	Missense_Mutation	SNP	G	C3L-00144_TP	370186	27413712	106383710	974	5253											
KIAA1462	0	.	GRCh38	chr10	30028655	30028655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggccccacagccacCgggggctggaatcggccaag	7	3	17	14	2	0	0	0	0	0	0	1	1	0	1	5	7	1	2	5	7	2	0	rs150974148		C3L-00144_TP	C3L-00144_NB	C	C																c.1493G>T	p.Arg498Leu	p.R498L	ENST00000375377	3/4	41	32	9	48	48	0	strelka-varscan-mutect	KIAA1462,missense_variant,p.Arg498Leu,ENST00000375377,NM_020848.2;	A	ENST00000375377	Transcript	missense_variant	1595/9265	1493/4080	498/1359	R/L	cGg/cTg	rs150974148	1		-1	KIAA1462	HGNC	HGNC:29283	protein_coding	YES	CCDS41500.1	ENSP00000364526	Q9P266		UPI00001D8117	NM_020848.2	tolerated(0.31)		3/4		hmmpanther:PTHR34757,hmmpanther:PTHR34757:SF1,Pfam_domain:PF15351																	MODERATE	1	SNV	5			1										PASS		rs150974148	.												A	3	1	12	30028655	30028655	C	A	1	0	0	0	0	1	0	0	0	8116	652	23	1		1	KIAA1462	10	30028655	Missense_Mutation	SNP	C	C3L-00144_TP	2614943	30028655	103768767	975	5254											
ZNF438	0	.	GRCh38	chr10	30849095	30849095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccatgataggtttgggcAtaatgctacggtattttttc	9	16	10	6	1	0	2	0	2	0	0	1	2	0	2	1	3	2	4	1	3	4	8	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1310T>C	p.Met437Thr	p.M437T	ENST00000442986	7/8	429	375	54	391	391	0	strelka-varscan-mutect	ZNF438,start_lost,p.Met1?,ENST00000375311,;ZNF438,missense_variant,p.Met427Thr,ENST00000452305,NM_001143770.1,NM_001143771.1;ZNF438,missense_variant,p.Met388Thr,ENST00000538351,NM_001143769.1;ZNF438,missense_variant,p.Met437Thr,ENST00000442986,NM_182755.2;ZNF438,missense_variant,p.Met427Thr,ENST00000331737,;ZNF438,missense_variant,p.Met437Thr,ENST00000436087,NM_001143766.1,NM_001143768.1;ZNF438,missense_variant,p.Met437Thr,ENST00000361310,;ZNF438,missense_variant,p.Met437Thr,ENST00000413025,NM_001143767.1;ZNF438,intron_variant,,ENST00000609683,;	G	ENST00000442986	Transcript	missense_variant	1745/3245	1310/2487	437/828	M/T	aTg/aCg		1		-1	ZNF438	HGNC	HGNC:21029	protein_coding	YES	CCDS7168.1	ENSP00000412363	Q7Z4V0		UPI00001B3D8F	NM_182755.2	deleterious(0.05)		7/8																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	12	30849095	30849095	A	G	1	0	0	0	0	1	0	0	0	18481	217	8	5		5	ZNF438	10	30849095	Missense_Mutation	SNP	A	C3L-00144_TP	820440	30849095	102948327	976	5255											
ARHGAP12	0	.	GRCh38	chr10	31908748	31908748	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaagatgtacctctccccTtgttttatcacaatctttct	9	16	3	13	0	4	1	1	0	3	1	5	1	4	1	4	0	1	2	4	0	4	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.108A>T	p.Gln36His	p.Q36H	ENST00000344936	3/20	189	168	21	178	178	0	strelka-varscan-mutect	ARHGAP12,missense_variant,p.Gln36His,ENST00000396144,NM_001270695.1;ARHGAP12,missense_variant,p.Gln36His,ENST00000375245,NM_001270697.1;ARHGAP12,missense_variant,p.Gln36His,ENST00000375250,NM_001270696.1,NM_001270698.1;ARHGAP12,missense_variant,p.Gln36His,ENST00000311380,NM_001270699.1;ARHGAP12,missense_variant,p.Gln36His,ENST00000344936,NM_018287.6;HMGB1P7,upstream_gene_variant,,ENST00000450921,;	A	ENST00000344936	Transcript	missense_variant	343/4128	108/2541	36/846	Q/H	caA/caT		1		-1	ARHGAP12	HGNC	HGNC:16348	protein_coding	YES	CCDS7170.1	ENSP00000345808	Q8IWW6		UPI000007445E	NM_018287.6	tolerated(0.06)		3/20		PROSITE_profiles:PS50002,hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF3,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	31908748	31908748	T	A	1	0	0	0	0	1	0	0	0	989	1606	56	4		4	ARHGAP12	10	31908748	Missense_Mutation	SNP	T	C3L-00144_TP	1059653	31908748	101888674	977	5256											
AGAP14P	0	.	GRCh38	chr10	46357312	46357312	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattcctcctccattccatCgactcccagcaccagccagg	8	9	5	19	1	0	0	0	0	0	0	6	1	5	0	7	1	2	1	7	1	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.656C>A	p.Ser219Ter	p.S219*	ENST00000624701	9/9	168	137	31	166	163	3	strelka-varscan-mutect	AGAP14P,stop_gained,p.Ser219Ter,ENST00000624701,;	A	ENST00000624701	Transcript	stop_gained	656/2058	656/2058	219/685	S/*	tCg/tAg		1		1	AGAP14P	HGNC	HGNC:23660	protein_coding	YES		ENSP00000485140		A0A096LNP0	UPI000514C5BF				9/9		Low_complexity_(Seg):seg,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF213																	HIGH	1	SNV	5			1										PASS		rs1454501521	.												A	4	1	12	46357312	46357312	C	A	1	0	0	0	0	0	1	0	0	444	893	31	1		1	AGAP14P	10	46357312	Nonsense_Mutation	SNP	C	C3L-00144_TP	14448564	46357312	87440110	978	5257											
RBP3	0	.	GRCh38	chr10	47349651	47349651	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctcctggtgcgagcCatcgggcccacagaaactcc	8	5	11	17	2	0	1	0	0	0	1	3	2	2	1	5	3	3	1	5	3	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1167C>T	p.=	p.A389A	ENST00000584701	1/4	364	332	32	337	336	1	strelka-varscan-mutect	RBP3,synonymous_variant,p.=,ENST00000584701,NM_002900.2;	T	ENST00000584701	Transcript	synonymous_variant	1281/4276	1167/3744	389/1247	A	gcC/gcT		1		1	RBP3	HGNC	HGNC:9921	protein_coding	YES	CCDS73119.1	ENSP00000463151	P10745		UPI000012D87A	NM_002900.2			1/4		Gene3D:3.30.750.44,Pfam_domain:PF11918,hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF3,Superfamily_domains:SSF52096																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	47349651	47349651	C	T	1	0	0	0	0	0	0	0	1	13325	581	21	3		3	RBP3	10	47349651	Silent	SNP	C	C3L-00144_TP	992339	47349651	86447771	979	5258											
ZNF488	0	.	GRCh38	chr10	47368022	47368022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagttctgggtggacaagcCcagggaggtgagggtgggtg	7	7	20	7	0	1	1	0	1	1	0	1	3	1	3	2	6	1	1	2	6	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.808G>T	p.Gly270Cys	p.G270C	ENST00000585316	2/2	88	72	16	75	75	0	strelka-varscan-mutect	ZNF488,missense_variant,p.Gly270Cys,ENST00000585316,NM_153034.2;ZNF488,missense_variant,p.Gly163Cys,ENST00000591025,;	A	ENST00000585316	Transcript	missense_variant	970/3496	808/1023	270/340	G/C	Ggc/Tgc		1		-1	ZNF488	HGNC	HGNC:23535	protein_coding	YES	CCDS73120.1	ENSP00000462269	Q96MN9		UPI00000736CF	NM_153034.2	deleterious(0)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR16516:SF5,hmmpanther:PTHR16516																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	47368022	47368022	C	A	1	0	0	0	0	1	0	0	0	18513	623	22	2		2	ZNF488	10	47368022	Missense_Mutation	SNP	C	C3L-00144_TP	18371	47368022	86429400	980	5259											
FRMPD2	0	.	GRCh38	chr10	48163474	48163474	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatgtgtcaaggaactggcCcaaggtctctctctgttttg	8	13	11	9	0	3	0	1	0	2	0	5	2	3	1	1	3	1	1	1	3	4	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3735G>T	p.Trp1245Cys	p.W1245C	ENST00000374201	28/29	114	104	10	126	126	0	varscan-mutect	FRMPD2,missense_variant,p.Trp1245Cys,ENST00000374201,NM_001018071.3;FRMPD2,missense_variant,p.Trp1220Cys,ENST00000305531,NM_001318191.1;FRMPD2,missense_variant,p.Trp1245Cys,ENST00000636244,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000474573,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000463706,;FRMPD2,3_prime_UTR_variant,,ENST00000637395,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000635925,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000491130,;	A	ENST00000374201	Transcript	missense_variant	4038/4997	3735/3930	1245/1309	W/C	tgG/tgT		1		-1	FRMPD2	HGNC	HGNC:28572	protein_coding	YES	CCDS31195.1	ENSP00000363317	Q68DX3		UPI0000D60F5F	NM_001018071.3	tolerated(0.2)		28/29		hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF42																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	48163474	48163474	C	A	1	0	0	0	0	1	0	0	0	5928	624	22	2		2	FRMPD2	10	48163474	Missense_Mutation	SNP	C	C3L-00144_TP	795452	48163474	85633948	981	5260											
FRMPD2	0	.	GRCh38	chr10	48171022	48171022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaggccttccgtggaccttCcattcacggccaggataatg	8	10	11	12	2	1	1	1	1	0	0	3	3	3	3	5	4	0	0	5	4	1	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3410G>T	p.Gly1137Val	p.G1137V	ENST00000374201	26/29	90	77	13	90	90	0	varscan-mutect	FRMPD2,missense_variant,p.Gly1137Val,ENST00000374201,NM_001018071.3;FRMPD2,missense_variant,p.Gly1112Val,ENST00000305531,NM_001318191.1;FRMPD2,missense_variant,p.Gly1137Val,ENST00000636244,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000474573,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000463706,;FRMPD2,3_prime_UTR_variant,,ENST00000637395,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000635925,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000491130,;FRMPD2,downstream_gene_variant,,ENST00000477710,;	A	ENST00000374201	Transcript	missense_variant	3713/4997	3410/3930	1137/1309	G/V	gGa/gTa		1		-1	FRMPD2	HGNC	HGNC:28572	protein_coding	YES	CCDS31195.1	ENSP00000363317	Q68DX3		UPI0000D60F5F	NM_001018071.3	deleterious(0)		26/29		PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF42,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	48171022	48171022	C	A	1	0	0	0	0	1	0	0	0	5928	855	30	2		2	FRMPD2	10	48171022	Missense_Mutation	SNP	C	C3L-00144_TP	7548	48171022	85626400	982	5261											
WDFY4	0	.	GRCh38	chr10	48976967	48976967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcaccgggagtcaagaCggcatggtccgggtaggtgt	9	8	15	9	3	3	1	3	0	0	1	4	2	4	2	2	5	0	2	2	5	2	1			C3L-00144_TP	C3L-00144_NB	C	C																c.9279C>A	p.Asp3093Glu	p.D3093E	ENST00000325239	58/61	34	28	6	19	19	0	strelka-mutect	WDFY4,missense_variant,p.Asp3093Glu,ENST00000325239,NM_020945.1;WDFY4,missense_variant,p.Asp1180Glu,ENST00000265453,;RP11-523O18.5,non_coding_transcript_exon_variant,,ENST00000428825,;WDFY4,non_coding_transcript_exon_variant,,ENST00000465910,;WDFY4,downstream_gene_variant,,ENST00000497480,;WDFY4,upstream_gene_variant,,ENST00000490507,;RP11-523O18.5,non_coding_transcript_exon_variant,,ENST00000610464,;	A	ENST00000325239	Transcript	missense_variant	9279/9555	9279/9555	3093/3184	D/E	gaC/gaA	COSM5050201,COSM5050202	1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1	deleterious(0)		58/61		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85,SMART_domains:SM00320,Superfamily_domains:SSF50978											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1015218230	.												A	3	1	12	48976967	48976967	C	A	1	0	0	0	0	1	0	0	0	17831	535	19	1		1	WDFY4	10	48976967	Missense_Mutation	SNP	C	C3L-00144_TP	805945	48976967	84820455	983	5262											
CHAT	0	.	GRCh38	chr10	49646641	49646641	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcggaggctacagcaagaaCggggccaatcgctggtacga	11	4	16	10	4	0	1	0	0	0	1	1	3	0	2	1	6	4	4	1	6	5	2	rs116071049		C3L-00144_TP	C3L-00144_NB	C	C																c.1248C>A	p.Asn416Lys	p.N416K	ENST00000337653	8/15	272	241	31	187	186	1	strelka-varscan-mutect	CHAT,missense_variant,p.Asn334Lys,ENST00000395562,NM_001142933.1;CHAT,missense_variant,p.Asn416Lys,ENST00000337653,NM_020549.4;CHAT,missense_variant,p.Asn298Lys,ENST00000351556,NM_020985.3,NM_001142934.1,NM_001142929.1;CHAT,missense_variant,p.Asn298Lys,ENST00000339797,NM_020984.3;CHAT,missense_variant,p.Asn298Lys,ENST00000395559,NM_020986.3;CHAT,3_prime_UTR_variant,,ENST00000466590,;	A	ENST00000337653	Transcript	missense_variant	1401/2458	1248/2247	416/748	N/K	aaC/aaA	rs116071049	1		1	CHAT	HGNC	HGNC:1912	protein_coding	YES	CCDS7232.1	ENSP00000337103	P28329		UPI000013F1B9	NM_020549.4	deleterious(0)		8/15		Pfam_domain:PF00755,hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF14,Superfamily_domains:SSF52777										uncertain_significance							MODERATE	1	SNV	1		1	1										PASS		rs116071049	.												A	3	1	12	49646641	49646641	C	A	1	0	0	0	0	1	0	0	0	3073	535	19	1		1	CHAT	10	49646641	Missense_Mutation	SNP	C	C3L-00144_TP	669674	49646641	84150781	984	5263											
C10orf53	0	.	GRCh38	chr10	49708428	49708428	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgacatttcaccagcttagCagcccgtgtaggatgaaagt	11	10	10	10	1	1	2	1	2	0	0	1	3	1	3	2	1	3	3	2	1	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.285C>T	p.=	p.S95S	ENST00000374112	3/3	158	123	35	149	149	0	strelka-varscan-mutect	C10orf53,synonymous_variant,p.=,ENST00000374112,NM_182554.2;C10orf53,synonymous_variant,p.=,ENST00000535836,;	T	ENST00000374112	Transcript	synonymous_variant	297/2130	285/474	95/157	S	agC/agT		1		1	C10orf53	HGNC	HGNC:27421	protein_coding	YES	CCDS31202.1	ENSP00000363226	Q8N6V4		UPI00001406B3	NM_182554.2			3/3																			LOW	1	SNV	2			1										PASS		.	.												T	2	4	12	49708428	49708428	C	T	1	0	0	0	0	0	0	0	1	1764	709	25	3		3	C10orf53	10	49708428	Silent	SNP	C	C3L-00144_TP	61787	49708428	84088994	985	5264											
PCDH15	0	.	GRCh38	chr10	53808712	53808712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtgctgtgttgtaacCttcagagtttgctcctggcg	7	14	11	9	1	2	1	2	0	0	1	3	1	3	1	2	1	3	5	2	1	2	4	rs751022451		C3L-00144_TP	C3L-00144_NB	C	C																c.5353G>T	p.Gly1785Cys	p.G1785C	ENST00000613657	37/37	128	112	16	92	92	0	strelka-varscan-mutect	PCDH15,missense_variant,p.Gly1785Cys,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Gly1778Cys,ENST00000395445,;PCDH15,missense_variant,p.Gly1784Cys,ENST00000612394,;PCDH15,missense_variant,p.Gly976Cys,ENST00000395446,;PCDH15,missense_variant,p.Gly714Cys,ENST00000395440,;PCDH15,missense_variant,p.Gly645Cys,ENST00000395442,;PCDH15,3_prime_UTR_variant,,ENST00000617271,NM_001142770.1;PCDH15,3_prime_UTR_variant,,ENST00000395438,;PCDH15,3_prime_UTR_variant,,ENST00000409834,;PCDH15,3_prime_UTR_variant,,ENST00000615043,;PCDH15,intron_variant,,ENST00000614895,;PCDH15,intron_variant,,ENST00000373965,NM_001142772.1;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000616114,;PCDH15,intron_variant,,ENST00000621708,NM_001142771.1;PCDH15,intron_variant,,ENST00000495484,;PCDH15,intron_variant,,ENST00000618301,;PCDH15,3_prime_UTR_variant,,ENST00000414367,;PCDH15,intron_variant,,ENST00000476074,;	A	ENST00000613657	Transcript	missense_variant	5748/6329	5353/5373	1785/1790	G/C	Ggt/Tgt	rs751022451	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding		CCDS73138.1	ENSP00000482794		A0A087WZN9	UPI0001884905	NM_001142769.1	deleterious_low_confidence(0)		37/37																			MODERATE		SNV	5			1										PASS		rs751022451	.												A	3	1	12	53808712	53808712	C	A	1	0	0	0	0	1	0	0	0	11598	681	24	2		2	PCDH15	10	53808712	Missense_Mutation	SNP	C	C3L-00144_TP	4100284	53808712	79988710	986	5265											
BICC1	0	.	GRCh38	chr10	58789709	58789709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatgctgttagaacatCttgctgggagcttagcatca	9	12	10	10	0	2	1	1	0	1	1	2	2	2	2	1	1	6	5	1	1	3	3	rs778393440		C3L-00144_TP	C3L-00144_NB	C	C																c.823C>A	p.Leu275Ile	p.L275I	ENST00000373886	8/21	206	187	19	182	182	0	strelka-varscan-mutect	BICC1,missense_variant,p.Leu275Ile,ENST00000373886,NM_001080512.2;BICC1,upstream_gene_variant,,ENST00000263103,;	A	ENST00000373886	Transcript	missense_variant	827/5475	823/2925	275/974	L/I	Ctt/Att	rs778393440	1		1	BICC1	HGNC	HGNC:19351	protein_coding	YES	CCDS31206.1	ENSP00000362993	Q9H694		UPI000059D156	NM_001080512.2	deleterious(0.01)		8/21		hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF38,Superfamily_domains:SSF54791																	MODERATE	1	SNV	2			1										PASS		rs778393440	.												A	3	1	12	58789709	58789709	C	A	1	0	0	0	0	1	0	0	0	1576	913	32	2		2	BICC1	10	58789709	Missense_Mutation	SNP	C	C3L-00144_TP	4980997	58789709	75007713	987	5266											
FAM13C	0	.	GRCh38	chr10	59355886	59355886	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaagcaatggtggcttttaCctgagactggagcaatcagt	11	10	11	9	0	1	1	1	1	0	1	1	3	1	2	2	3	3	3	2	3	4	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.119+1G>T		p.X40_splice	ENST00000618804		250	194	56	207	207	0	strelka-varscan-mutect	FAM13C,splice_donor_variant,,ENST00000618427,NM_001166698.1;FAM13C,splice_donor_variant,,ENST00000621119,;FAM13C,splice_donor_variant,,ENST00000614220,;FAM13C,splice_donor_variant,,ENST00000618804,NM_198215.3;FAM13C,splice_donor_variant,,ENST00000611933,NM_001001971.2;FAM13C,splice_donor_variant,,ENST00000468840,NM_001143773.1;FAM13C,splice_donor_variant,,ENST00000435852,;FAM13C,splice_donor_variant,,ENST00000422313,;FAM13C,splice_donor_variant,,ENST00000503444,;FAM13C,splice_donor_variant,,ENST00000512919,;FAM13C,splice_donor_variant,,ENST00000470220,;FAM13C,upstream_gene_variant,,ENST00000507862,;FAM13C,splice_donor_variant,,ENST00000622363,;FAM13C,splice_donor_variant,,ENST00000619059,;	A	ENST00000618804	Transcript	splice_donor_variant	-/3333	119/1758	40/585				1		-1	FAM13C	HGNC	HGNC:19371	protein_coding	YES	CCDS7255.1	ENSP00000481854	Q8NE31		UPI00001AEA18	NM_198215.3				2/13																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	12	59355886	59355886	C	A	1	0	0	0	0	0	0	1	0	5303	521	18	2		2	FAM13C	10	59355886	Splice_Site	SNP	C	C3L-00144_TP	566177	59355886	74441536	988	5267											
ANK3	0	.	GRCh38	chr10	60071399	60071399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaagggcttttcccagagCtgtctagaaaggatacttgc	11	12	10	8	0	1	2	0	0	1	2	2	3	2	3	1	2	3	2	1	2	5	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.9482G>T	p.Ser3161Ile	p.S3161I	ENST00000280772	37/44	262	241	21	266	265	1	strelka-varscan-mutect	ANK3,missense_variant,p.Ser3161Ile,ENST00000280772,NM_020987.3;ANK3,intron_variant,,ENST00000373827,NM_001204403.1;ANK3,intron_variant,,ENST00000503366,NM_001204404.1;ANK3,intron_variant,,ENST00000610321,;ANK3,intron_variant,,ENST00000355288,NM_001149.3;ANK3,intron_variant,,ENST00000616444,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000511043,;ANK3,upstream_gene_variant,,ENST00000610901,;ANK3,upstream_gene_variant,,ENST00000613207,;ANK3,missense_variant,p.Ser391Ile,ENST00000621739,;	A	ENST00000280772	Transcript	missense_variant	9674/16874	9482/13134	3161/4377	S/I	aGc/aTc		1		-1	ANK3	HGNC	HGNC:494	protein_coding	YES	CCDS7258.1	ENSP00000280772	Q12955		UPI0000141BA9	NM_020987.3	deleterious_low_confidence(0)		37/44		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	60071399	60071399	C	A	1	0	0	0	0	1	0	0	0	722	797	28	2		2	ANK3	10	60071399	Missense_Mutation	SNP	C	C3L-00144_TP	715513	60071399	73726023	989	5268											
CDH23	0	.	GRCh38	chr10	71682543	71682543	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaacccccctctcaacAgcaccgtccctgtcaccatc	8	7	5	21	1	2	0	2	0	1	0	5	0	3	0	6	1	3	2	6	1	2	0	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1972A>T	p.Ser658Cys	p.S658C	ENST00000224721	18/70	257	223	34	240	240	0	strelka-varscan-mutect	CDH23,missense_variant,p.Ser658Cys,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Ser653Cys,ENST00000622827,;CDH23,missense_variant,p.Ser245Cys,ENST00000442677,;CDH23,missense_variant,p.Ser653Cys,ENST00000616684,NM_001171930.1;CDH23,missense_variant,p.Ser653Cys,ENST00000398809,;CDH23,missense_variant,p.Ser464Cys,ENST00000466757,;CDH23,missense_variant,p.Ser653Cys,ENST00000299366,NM_001171931.1;	T	ENST00000224721	Transcript	missense_variant	2362/11139	1972/10080	658/3359	S/C	Agc/Tgc		1		1	CDH23	HGNC	HGNC:13733	protein_coding			ENSP00000224721		A0A0A0MQS6	UPI0002B831D5	NM_022124.5	deleterious(0.01)		18/70		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF277,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	71682543	71682543	A	T	1	0	0	0	0	1	0	0	0	2811	188	7	4		4	CDH23	10	71682543	Missense_Mutation	SNP	A	C3L-00144_TP	11611144	71682543	62114879	990	5269											
FUT11	0	.	GRCh38	chr10	73772548	73772548	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccagggagggaggaggCgggggacttgccggtactgc	6	4	22	9	3	0	0	0	0	0	0	0	4	0	4	2	8	3	1	2	8	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.215C>A	p.Ala72Glu	p.A72E	ENST00000372841	1/3	41	36	5	35	35	0	strelka-varscan-mutect	FUT11,missense_variant,p.Ala72Glu,ENST00000394790,NM_001284194.1;FUT11,missense_variant,p.Ala72Glu,ENST00000372841,NM_173540.2;SEC24C,downstream_gene_variant,,ENST00000339365,NM_004922.3;SEC24C,downstream_gene_variant,,ENST00000345254,NM_198597.2;RP11-574K11.32,non_coding_transcript_exon_variant,,ENST00000623453,;FUT11,upstream_gene_variant,,ENST00000465695,;FUT11,upstream_gene_variant,,ENST00000489264,;SEC24C,downstream_gene_variant,,ENST00000496827,;SEC24C,downstream_gene_variant,,ENST00000465076,;SEC24C,downstream_gene_variant,,ENST00000635550,;	A	ENST00000372841	Transcript	missense_variant	258/2056	215/1479	72/492	A/E	gCg/gAg		1		1	FUT11	HGNC	HGNC:19233	protein_coding	YES	CCDS7333.1	ENSP00000361932	Q495W5		UPI00000474D6	NM_173540.2	tolerated(0.82)		1/3		PIRSF_domain:PIRSF037332,hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF156																	MODERATE	1	SNV	1			1										PASS		rs1178002449	.												A	3	1	12	73772548	73772548	C	A	1	0	0	0	0	1	0	0	0	5975	768	27	1		1	FUT11	10	73772548	Missense_Mutation	SNP	C	C3L-00144_TP	2090005	73772548	60024874	991	5270											
LDB3	0	.	GRCh38	chr10	86717990	86717990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttctggtagccatgggccGttcttggcaccctgaagagt	7	12	12	10	1	2	2	0	1	2	1	2	2	2	2	3	3	1	3	3	3	2	4	rs769156627		C3L-00144_TP	C3L-00144_NB	G	G																c.1718G>T	p.Arg573Leu	p.R573L	ENST00000429277	11/14	169	154	15	132	132	0	strelka-varscan-mutect	LDB3,missense_variant,p.Arg573Leu,ENST00000429277,NM_001171610.1;LDB3,missense_variant,p.Arg568Leu,ENST00000361373,NM_007078.2;LDB3,missense_variant,p.Arg458Leu,ENST00000263066,NM_001080114.1;LDB3,missense_variant,p.Arg573Leu,ENST00000623056,;LDB3,upstream_gene_variant,,ENST00000477489,;	T	ENST00000429277	Transcript	missense_variant	1863/5436	1718/2199	573/732	R/L	cGt/cTt	rs769156627	1		1	LDB3	HGNC	HGNC:15710	protein_coding	YES	CCDS53550.1	ENSP00000401437	O75112		UPI00017A876A	NM_001171610.1	deleterious(0)		11/14		PROSITE_profiles:PS50023,hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF9,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716																	MODERATE	1	SNV	2			1										PASS		rs769156627	.												T	3	4	12	86717990	86717990	G	T	1	0	0	0	0	1	0	0	0	8604	1145	40	1		1	LDB3	10	86717990	Missense_Mutation	SNP	G	C3L-00144_TP	12945442	86717990	47079432	992	5271											
RNLS	0	.	GRCh38	chr10	88581614	88581614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaaattccttgaggtGccacaaagttacagtctcct	12	12	8	9	0	1	3	0	2	1	1	3	3	2	3	3	1	2	1	3	1	4	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.320C>A	p.Ala107Glu	p.A107E	ENST00000331772	3/7	112	94	18	86	86	0	strelka-mutect	RNLS,missense_variant,p.Ala107Glu,ENST00000371947,NM_018363.3;RNLS,missense_variant,p.Ala107Glu,ENST00000331772,NM_001031709.2;RNLS,missense_variant,p.Ala107Glu,ENST00000437752,;Y_RNA,downstream_gene_variant,,ENST00000364678,;RNLS,non_coding_transcript_exon_variant,,ENST00000466945,;RNLS,intron_variant,,ENST00000481793,;	T	ENST00000331772	Transcript	missense_variant	343/1447	320/1029	107/342	A/E	gCa/gAa		1		-1	RNLS	HGNC	HGNC:25641	protein_coding	YES	CCDS31239.1	ENSP00000332530	Q5VYX0		UPI00001AFF46	NM_001031709.2	deleterious(0)		3/7		hmmpanther:PTHR23357,Gene3D:3.90.660.10,Pfam_domain:PF01593,Superfamily_domains:SSF51905																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	88581614	88581614	G	T	1	0	0	0	0	1	0	0	0	13685	1319	46	2		2	RNLS	10	88581614	Missense_Mutation	SNP	G	C3L-00144_TP	1863624	88581614	45215808	993	5272											
IFIT3	0	.	GRCh38	chr10	89339936	89339936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggattaattcataagcaGaatggagatctgctgcaagc	15	9	10	7	0	2	2	1	0	1	2	2	4	2	3	0	2	4	3	0	2	5	3			C3L-00144_TP	C3L-00144_NB	G	G																c.1281G>T	p.Gln427His	p.Q427H	ENST00000371818	2/2	111	80	31	89	88	1	strelka-varscan-mutect	IFIT3,missense_variant,p.Gln427His,ENST00000371818,NM_001549.5;IFIT3,missense_variant,p.Gln427His,ENST00000371811,NM_001031683.3;LIPA,intron_variant,,ENST00000371837,;LIPA,intron_variant,,ENST00000282673,;LIPA,intron_variant,,ENST00000487618,;LIPA,intron_variant,,ENST00000463623,;LIPA,intron_variant,,ENST00000489359,;	T	ENST00000371818	Transcript	missense_variant	1461/2496	1281/1473	427/490	Q/H	caG/caT	COSM3791018	1		1	IFIT3	HGNC	HGNC:5411	protein_coding	YES	CCDS7402.1	ENSP00000360883	O14879	Q5T765	UPI000012D3E5	NM_001549.5	deleterious(0.04)		2/2		Gene3D:1.25.40.10,Pfam_domain:PF13181,PROSITE_profiles:PS50005,hmmpanther:PTHR10271,hmmpanther:PTHR10271:SF3,SMART_domains:SM00028											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	12	89339936	89339936	G	T	1	0	0	0	0	1	0	0	0	7424	933	33	2		2	IFIT3	10	89339936	Missense_Mutation	SNP	G	C3L-00144_TP	758322	89339936	44457486	994	5273											
KIF20B	0	.	GRCh38	chr10	89732968	89732968	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaatgaaacagttgaagtAcctaaggacagcaaatctaa	18	9	8	6	0	1	2	0	2	1	0	1	3	1	3	1	1	3	4	1	1	7	5	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2457A>G	p.=	p.V819V	ENST00000371728	19/33	114	89	25	120	120	0	strelka-varscan-mutect	KIF20B,synonymous_variant,p.=,ENST00000371728,NM_001284259.1;KIF20B,synonymous_variant,p.=,ENST00000260753,NM_016195.3;KIF20B,non_coding_transcript_exon_variant,,ENST00000478929,;	G	ENST00000371728	Transcript	synonymous_variant	2522/6419	2457/5463	819/1820	V	gtA/gtG		1		1	KIF20B	HGNC	HGNC:7212	protein_coding	YES	CCDS60590.1	ENSP00000360793	Q96Q89		UPI000013D104	NM_001284259.1			19/33																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	89732968	89732968	A	G	1	0	0	0	0	0	0	0	1	8152	378	14	5		5	KIF20B	10	89732968	Silent	SNP	A	C3L-00144_TP	393032	89732968	44064454	995	5274											
DNTT	0	.	GRCh38	chr10	96319324	96319324	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagactccaccaattgctgtAcaaaagatctcccagtatgc	14	9	6	12	0	1	2	0	0	1	2	3	2	2	2	3	0	3	3	3	0	6	3	rs760485586		C3L-00144_TP	C3L-00144_NB	A	A																c.441A>T	p.=	p.V147V	ENST00000371174	3/11	268	203	65	246	246	0	strelka-varscan-mutect	DNTT,synonymous_variant,p.=,ENST00000371174,NM_004088.3;DNTT,synonymous_variant,p.=,ENST00000630152,NM_001017520.1;	T	ENST00000371174	Transcript	synonymous_variant	543/1972	441/1530	147/509	V	gtA/gtT	rs760485586	1		1	DNTT	HGNC	HGNC:2983	protein_coding	YES	CCDS7447.1	ENSP00000360216	P04053		UPI000013C84B	NM_004088.3			3/11		PIRSF_domain:PIRSF000817,PIRSF_domain:PIRSF501175,hmmpanther:PTHR11276,hmmpanther:PTHR11276:SF21																	LOW	1	SNV	1			1										PASS		rs760485586	.												T	2	4	12	96319324	96319324	A	T	1	0	0	0	0	0	0	0	1	4494	378	14	4		4	DNTT	10	96319324	Silent	SNP	A	C3L-00144_TP	6586356	96319324	37478098	996	5275											
TLL2	0	.	GRCh38	chr10	96480415	96480415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctttgtcaatgtgaaacaGcttcaagtcatcttcatcta	11	14	7	9	0	6	1	4	1	2	0	6	1	6	1	0	1	2	2	0	1	4	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.220C>A	p.Leu74Met	p.L74M	ENST00000357947	2/21	262	205	57	232	230	2	strelka-varscan-mutect	TLL2,missense_variant,p.Leu74Met,ENST00000357947,NM_012465.3;TLL2,non_coding_transcript_exon_variant,,ENST00000469598,;	T	ENST00000357947	Transcript	missense_variant	446/6756	220/3048	74/1015	L/M	Ctg/Atg		1		-1	TLL2	HGNC	HGNC:11844	protein_coding	YES	CCDS7449.1	ENSP00000350630	Q9Y6L7		UPI0000073AEE	NM_012465.3	tolerated(0.57)		2/21		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF638,PIRSF_domain:PIRSF001199																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	96480415	96480415	G	T	1	0	0	0	0	1	0	0	0	16392	962	34	2		2	TLL2	10	96480415	Missense_Mutation	SNP	G	C3L-00144_TP	161091	96480415	37317007	997	5276											
FRAT1	0	.	GRCh38	chr10	97319945	97319945	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcatcccgcagccgctGtcgggtccgtgccggcgagg	4	5	17	15	6	0	0	0	0	0	0	3	1	2	0	4	4	2	3	4	4	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.492G>T	p.=	p.L164L	ENST00000371021	1/1	133	109	24	136	136	0	strelka-varscan-mutect	FRAT1,synonymous_variant,p.=,ENST00000371021,NM_005479.3;FRAT1,upstream_gene_variant,,ENST00000490980,;	T	ENST00000371021	Transcript	synonymous_variant	679/2649	492/840	164/279	L	ctG/ctT		1		1	FRAT1	HGNC	HGNC:3944	protein_coding	YES	CCDS7455.1	ENSP00000360060	Q92837		UPI000006D6B7	NM_005479.3			1/1		hmmpanther:PTHR35154,hmmpanther:PTHR35154:SF1,Pfam_domain:PF05350																	LOW	1	SNV				1										PASS		rs1477958435	.												T	2	4	12	97319945	97319945	G	T	1	0	0	0	0	0	0	0	1	5909	1364	48	2		2	FRAT1	10	97319945	Silent	SNP	G	C3L-00144_TP	839530	97319945	36477477	998	5277											
HPSE2	0	.	GRCh38	chr10	98721789	98721789	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttcccaactggctgccaTttactgcccggccatgcatg	6	11	8	16	1	0	0	0	0	0	0	1	0	1	0	5	2	5	2	5	2	2	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.824A>T	p.Asn275Ile	p.N275I	ENST00000370552	5/12	427	322	105	367	367	0	strelka-varscan-mutect	HPSE2,missense_variant,p.Asn72Ile,ENST00000404542,;HPSE2,missense_variant,p.Asn275Ile,ENST00000370552,NM_021828.4;HPSE2,missense_variant,p.Asn217Ile,ENST00000370549,NM_001166244.1;HPSE2,missense_variant,p.Asn275Ile,ENST00000370546,NM_001166246.1;HPSE2,missense_variant,p.Asn163Ile,ENST00000628193,NM_001166245.1;	A	ENST00000370552	Transcript	missense_variant	884/2295	824/1779	275/592	N/I	aAt/aTt		1		-1	HPSE2	HGNC	HGNC:18374	protein_coding	YES	CCDS7477.1	ENSP00000359583	Q8WWQ2		UPI00001AEEC0	NM_021828.4	deleterious(0)		5/12		Gene3D:3.20.20.80,Pfam_domain:PF03662,hmmpanther:PTHR14363,hmmpanther:PTHR14363:SF15,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	98721789	98721789	T	A	1	0	0	0	0	1	0	0	0	7240	1493	52	4		4	HPSE2	10	98721789	Missense_Mutation	SNP	T	C3L-00144_TP	1401844	98721789	35075633	999	5278											
PKD2L1	0	.	GRCh38	chr10	100292977	100292977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgttggtgaaatcctcaaaCtggatctcctgctccccacc	8	11	8	14	0	2	1	1	1	1	0	5	2	4	2	5	2	2	2	5	2	2	1	rs776718992		C3L-00144_TP	C3L-00144_NB	C	C																c.1851G>T	p.Gln617His	p.Q617H	ENST00000318222	11/16	85	61	24	108	108	0	strelka-varscan-mutect	PKD2L1,missense_variant,p.Gln617His,ENST00000318222,NM_001253837.1,NM_016112.2;PKD2L1,intron_variant,,ENST00000465680,;PKD2L1,3_prime_UTR_variant,,ENST00000528248,;	A	ENST00000318222	Transcript	missense_variant	2234/3043	1851/2418	617/805	Q/H	caG/caT	rs776718992	1		-1	PKD2L1	HGNC	HGNC:9011	protein_coding	YES	CCDS7492.1	ENSP00000325296	Q9P0L9		UPI0000130FED	NM_001253837.1,NM_016112.2	deleterious(0.02)		11/16		hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF105,Gene3D:1.10.238.10																	MODERATE	1	SNV	1			1										PASS		rs776718992	.												A	3	1	12	100292977	100292977	C	A	1	0	0	0	0	1	0	0	0	12063	564	20	2		2	PKD2L1	10	100292977	Missense_Mutation	SNP	C	C3L-00144_TP	1571188	100292977	33504445	1000	5279											
PAX2	0	.	GRCh38	chr10	100749845	100749845	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtggagctggcccaccaggGtgtgcggccctgtgacatct	5	8	15	13	2	1	1	0	1	1	0	1	2	1	2	3	4	2	1	3	4	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.143G>C	p.Gly48Ala	p.G48A	ENST00000370296	2/11	67	45	22	86	86	0	strelka-varscan-mutect	PAX2,missense_variant,p.Gly48Ala,ENST00000370296,NM_003988.3;PAX2,missense_variant,p.Gly48Ala,ENST00000428433,NM_003987.3,NM_003990.3;PAX2,missense_variant,p.Gly48Ala,ENST00000355243,NM_001304569.1,NM_000278.3,NM_003989.3;PAX2,missense_variant,p.Gly47Ala,ENST00000361791,;PAX2,missense_variant,p.Gly52Ala,ENST00000554172,;PAX2,missense_variant,p.Gly48Ala,ENST00000427256,;PAX2,intron_variant,,ENST00000554363,;PAX2,intron_variant,,ENST00000553492,;PAX2,non_coding_transcript_exon_variant,,ENST00000483202,;	C	ENST00000370296	Transcript	missense_variant	693/4140	143/1191	48/396	G/A	gGt/gCt		1		1	PAX2	HGNC	HGNC:8616	protein_coding	YES	CCDS7499.1	ENSP00000359319	Q02962		UPI000016AE71	NM_003988.3	deleterious(0)		2/11		PROSITE_profiles:PS51057,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF172,Gene3D:1.10.10.10,Pfam_domain:PF00292,SMART_domains:SM00351,Superfamily_domains:SSF46689,Prints_domain:PR00027																	MODERATE	1	SNV	1			1										PASS		rs1454668545	.												C	3	2	12	100749845	100749845	G	C	1	0	0	0	0	1	0	0	0	11564	1261	44	4		4	PAX2	10	100749845	Missense_Mutation	SNP	G	C3L-00144_TP	456868	100749845	33047577	1001	5280											
COL17A1	0	.	GRCh38	chr10	104061447	104061447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcacagccgcaggactctGgggcatgtttttcttcaccc	6	12	10	13	1	4	0	2	0	2	0	4	1	4	1	2	3	1	4	2	3	0	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.937C>A	p.Gln313Lys	p.Q313K	ENST00000353479	13/56	213	164	49	158	158	0	strelka-varscan-mutect	COL17A1,missense_variant,p.Gln313Lys,ENST00000353479,NM_000494.3;COL17A1,missense_variant,p.Gln313Lys,ENST00000369733,;COL17A1,missense_variant,p.Gln313Lys,ENST00000393211,;COL17A1,non_coding_transcript_exon_variant,,ENST00000488320,;	T	ENST00000353479	Transcript	missense_variant	1228/5734	937/4494	313/1497	Q/K	Cag/Aag		1		-1	COL17A1	HGNC	HGNC:2194	protein_coding	YES	CCDS7554.1	ENSP00000340937	Q9UMD9		UPI000006DB58	NM_000494.3	deleterious(0.01)		13/56																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	104061447	104061447	G	T	1	0	0	0	0	1	0	0	0	3462	1357	47	2		2	COL17A1	10	104061447	Missense_Mutation	SNP	G	C3L-00144_TP	3311602	104061447	29735975	1002	5281											
SORCS3	0	.	GRCh38	chr10	105217111	105217111	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacacagctgtcctcttccTgcatgtggtttgtaagtagg	8	13	11	9	0	1	1	0	0	1	1	3	1	3	1	2	2	2	5	2	2	2	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2723T>A	p.Leu908Gln	p.L908Q	ENST00000369701	19/27	113	90	23	125	125	0	strelka-varscan-mutect	SORCS3,missense_variant,p.Leu908Gln,ENST00000369701,NM_014978.2;SORCS3,missense_variant,p.Leu908Gln,ENST00000369699,;	A	ENST00000369701	Transcript	missense_variant	2950/5757	2723/3669	908/1222	L/Q	cTg/cAg		1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2	deleterious(0)		19/27		Gene3D:2.60.40.670,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,Superfamily_domains:SSF49299																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	105217111	105217111	T	A	1	0	0	0	0	1	0	0	0	15254	1580	55	4		4	SORCS3	10	105217111	Missense_Mutation	SNP	T	C3L-00144_TP	1155664	105217111	28580311	1003	5282											
SORCS3	0	.	GRCh38	chr10	105263310	105263310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgtcttctcttctctgcagGaggcattgccactattgcaa	7	14	9	11	0	3	0	0	0	3	0	5	1	3	1	1	2	3	3	1	2	2	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3605G>A	p.Gly1202Glu	p.G1202E	ENST00000369701	27/27	185	142	43	135	135	0	strelka-mutect	SORCS3,missense_variant,p.Gly1202Glu,ENST00000369701,NM_014978.2;SORCS3,missense_variant,p.Gly1202Glu,ENST00000369699,;	A	ENST00000369701	Transcript	missense_variant,splice_region_variant	3832/5757	3605/3669	1202/1222	G/E	gGa/gAa		1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2	tolerated(0.07)		27/27		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	105263310	105263310	G	A	1	0	0	0	0	1	0	0	0	15254	1188	41	3		3	SORCS3	10	105263310	Missense_Mutation	SNP	G	C3L-00144_TP	46199	105263310	28534112	1004	5283											
SORCS1	0	.	GRCh38	chr10	106607261	106607261	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgggtaagccagggagcaCcgccaccaggatgtgctggc	8	5	17	11	1	0	0	0	0	0	0	0	2	0	2	4	5	3	3	4	5	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3070G>T	p.Val1024Leu	p.V1024L	ENST00000263054	23/26	122	103	19	117	117	0	strelka-varscan-mutect	SORCS1,missense_variant,p.Val1024Leu,ENST00000263054,NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1;SORCS1,missense_variant,p.Val782Leu,ENST00000612154,;SORCS1,missense_variant,p.Val782Leu,ENST00000622431,;SORCS1,missense_variant,p.Val782Leu,ENST00000344440,;SORCS1,missense_variant,p.Val559Leu,ENST00000369698,;SORCS1,missense_variant,p.Val39Leu,ENST00000452214,;SORCS1,non_coding_transcript_exon_variant,,ENST00000478809,;SORCS1,upstream_gene_variant,,ENST00000473866,;	A	ENST00000263054	Transcript	missense_variant	3078/7272	3070/3507	1024/1168	V/L	Gtg/Ttg		1		-1	SORCS1	HGNC	HGNC:16697	protein_coding	YES	CCDS7559.1	ENSP00000263054	Q8WY21		UPI00001AE866	NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1	tolerated(0.12)		23/26		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	106607261	106607261	C	A	1	0	0	0	0	1	0	0	0	15252	507	18	2		2	SORCS1	10	106607261	Missense_Mutation	SNP	C	C3L-00144_TP	1343951	106607261	27190161	1005	5284											
SORCS1	0	.	GRCh38	chr10	107164300	107164300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggggccactgagaacaggGgacgcactacgaggggcagg	10	2	19	10	3	0	1	0	1	0	1	0	4	0	2	1	7	2	2	1	7	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.227C>T	p.Pro76Leu	p.P76L	ENST00000263054	1/26	106	93	13	61	61	0	strelka-varscan-mutect	SORCS1,missense_variant,p.Pro76Leu,ENST00000263054,NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1;	A	ENST00000263054	Transcript	missense_variant	235/7272	227/3507	76/1168	P/L	cCc/cTc		1		-1	SORCS1	HGNC	HGNC:16697	protein_coding	YES	CCDS7559.1	ENSP00000263054	Q8WY21		UPI00001AE866	NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1	deleterious_low_confidence(0.03)		1/26		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF8																	MODERATE	1	SNV	1			1										PASS		rs1478059066	.												A	3	1	12	107164300	107164300	G	A	1	0	0	0	0	1	0	0	0	15252	1232	43	3		3	SORCS1	10	107164300	Missense_Mutation	SNP	G	C3L-00144_TP	557039	107164300	26633122	1006	5285											
GPAM	0	.	GRCh38	chr10	112163728	112163728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatatgctcagccagatttgCaatcaacctccttcgtaggg	11	11	8	11	1	2	1	2	0	0	1	4	1	3	1	3	1	4	3	3	1	5	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1396G>T	p.Ala466Ser	p.A466S	ENST00000348367	14/22	372	291	81	341	341	0	strelka-varscan-mutect	GPAM,missense_variant,p.Ala466Ser,ENST00000348367,NM_001244949.1,NM_020918.5;GPAM,missense_variant,p.Ala466Ser,ENST00000369425,;	A	ENST00000348367	Transcript	missense_variant	1594/6371	1396/2487	466/828	A/S	Gca/Tca		1		-1	GPAM	HGNC	HGNC:24865	protein_coding	YES	CCDS7570.1	ENSP00000265276	Q9HCL2		UPI000004AC02	NM_001244949.1,NM_020918.5	tolerated(0.59)		14/22		hmmpanther:PTHR12563,hmmpanther:PTHR12563:SF16,PIRSF_domain:PIRSF500064,PIRSF_domain:PIRSF000437																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	112163728	112163728	C	A	1	0	0	0	0	1	0	0	0	6484	710	25	2		2	GPAM	10	112163728	Missense_Mutation	SNP	C	C3L-00144_TP	4999428	112163728	21633694	1007	5286											
NHLRC2	0	.	GRCh38	chr10	113904850	113904850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgaaaatgctgtggtaGatggcccgttcctagtagaa	11	11	12	7	1	1	3	0	1	1	2	2	4	2	3	2	2	1	4	2	2	6	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1738G>T	p.Asp580Tyr	p.D580Y	ENST00000369301	10/11	244	199	45	214	214	0	strelka-varscan-mutect	NHLRC2,missense_variant,p.Asp580Tyr,ENST00000369301,NM_198514.3;	T	ENST00000369301	Transcript	missense_variant	1950/11051	1738/2181	580/726	D/Y	Gat/Tat		1		1	NHLRC2	HGNC	HGNC:24731	protein_coding	YES	CCDS7585.1	ENSP00000358307	Q8NBF2		UPI0000071EAF	NM_198514.3	deleterious(0)		10/11		hmmpanther:PTHR13833,hmmpanther:PTHR13833:SF49																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	113904850	113904850	G	T	1	0	0	0	0	1	0	0	0	10439	942	33	2		2	NHLRC2	10	113904850	Missense_Mutation	SNP	G	C3L-00144_TP	1741122	113904850	19892572	1008	5287											
ATRNL1	0	.	GRCh38	chr10	115286249	115286249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaggatggagtcatattgGggatgcttgtcttagagtca	11	12	14	4	0	3	2	2	0	1	2	3	5	3	5	0	4	1	1	0	4	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2267G>T	p.Gly756Val	p.G756V	ENST00000355044	15/29	242	219	23	266	266	0	strelka-mutect	ATRNL1,missense_variant,p.Gly756Val,ENST00000355044,NM_207303.4;	T	ENST00000355044	Transcript	missense_variant	2393/8479	2267/4140	756/1379	G/V	gGg/gTg		1		1	ATRNL1	HGNC	HGNC:29063	protein_coding	YES	CCDS7592.1	ENSP00000347152	Q5VV63		UPI000021CCF8	NM_207303.4	deleterious(0.01)		15/29		PROSITE_profiles:PS50041,hmmpanther:PTHR10574:SF224,hmmpanther:PTHR10574,Gene3D:3.10.100.10,SMART_domains:SM00423,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	115286249	115286249	G	T	1	0	0	0	0	1	0	0	0	1360	1232	43	2		2	ATRNL1	10	115286249	Missense_Mutation	SNP	G	C3L-00144_TP	1381399	115286249	18511173	1009	5288											
ATRNL1	0	.	GRCh38	chr10	115286310	115286310	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaatgcaaaactttattgCtataatcttagtggaaatct	15	14	6	6	0	2	0	0	0	2	0	2	2	2	1	0	1	3	2	0	1	8	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2328C>A	p.Cys776Ter	p.C776*	ENST00000355044	15/29	183	152	31	244	244	0	strelka-varscan-mutect	ATRNL1,stop_gained,p.Cys776Ter,ENST00000355044,NM_207303.4;	A	ENST00000355044	Transcript	stop_gained	2454/8479	2328/4140	776/1379	C/*	tgC/tgA		1		1	ATRNL1	HGNC	HGNC:29063	protein_coding	YES	CCDS7592.1	ENSP00000347152	Q5VV63		UPI000021CCF8	NM_207303.4			15/29		PROSITE_profiles:PS50041,hmmpanther:PTHR10574:SF224,hmmpanther:PTHR10574,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	115286310	115286310	C	A	1	0	0	0	0	0	1	0	0	1360	805	28	2		2	ATRNL1	10	115286310	Nonsense_Mutation	SNP	C	C3L-00144_TP	61	115286310	18511112	1010	5289											
HSPA12A	0	.	GRCh38	chr10	116674940	116674940	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgagatccaggcggagCgtgccacacttcttcacccc	7	8	10	16	2	2	1	1	1	1	1	3	3	3	2	5	2	2	0	5	2	0	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1869G>T	p.=	p.T623T	ENST00000369209	12/12	433	358	75	450	450	0	strelka-varscan-mutect	HSPA12A,synonymous_variant,p.=,ENST00000635765,;HSPA12A,synonymous_variant,p.=,ENST00000369209,NM_025015.2;C10orf82,upstream_gene_variant,,ENST00000369210,NM_144661.2;C10orf82,upstream_gene_variant,,ENST00000588184,;RP11-498B4.5,downstream_gene_variant,,ENST00000433600,;C10orf82,upstream_gene_variant,,ENST00000588224,;C10orf82,upstream_gene_variant,,ENST00000467153,;	A	ENST00000369209	Transcript	synonymous_variant	1974/5722	1869/2028	623/675	T	acG/acT		1		-1	HSPA12A	HGNC	HGNC:19022	protein_coding	YES	CCDS41569.1	ENSP00000358211	O43301		UPI00001B3DE3	NM_025015.2			12/12		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF46																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	116674940	116674940	C	A	1	0	0	0	0	0	0	0	1	7300	755	27	1		1	HSPA12A	10	116674940	Silent	SNP	C	C3L-00144_TP	1388630	116674940	17122482	1011	5290											
HSPA12A	0	.	GRCh38	chr10	116683828	116683828	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctactgtgtcactgccgctGtacccattgacggctgcctt	5	12	9	15	2	1	1	1	1	0	0	1	1	1	1	4	1	4	3	4	1	2	4	rs782420092		C3L-00144_TP	C3L-00144_NB	G	G																c.798C>T	p.=	p.Y266Y	ENST00000369209	7/12	75	66	9	77	77	0	strelka-varscan-mutect	HSPA12A,synonymous_variant,p.=,ENST00000635765,;HSPA12A,synonymous_variant,p.=,ENST00000369209,NM_025015.2;HSPA12A,synonymous_variant,p.=,ENST00000480802,;	A	ENST00000369209	Transcript	synonymous_variant	903/5722	798/2028	266/675	Y	taC/taT	rs782420092	1		-1	HSPA12A	HGNC	HGNC:19022	protein_coding	YES	CCDS41569.1	ENSP00000358211	O43301		UPI00001B3DE3	NM_025015.2			7/12		Gene3D:3.30.420.40,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF46																	LOW	1	SNV	1			1										PASS		rs782420092	.												A	2	1	12	116683828	116683828	G	A	1	0	0	0	0	0	0	0	1	7300	1372	48	3		3	HSPA12A	10	116683828	Silent	SNP	G	C3L-00144_TP	8888	116683828	17113594	1012	5291											
PRLHR	0	.	GRCh38	chr10	118594578	118594578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcccccaggcgtagagctGgcgctggcgctcctgggagc	5	5	16	15	3	0	1	0	0	0	1	1	2	1	2	3	4	3	4	3	4	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.667C>A	p.Gln223Lys	p.Q223K	ENST00000239032	2/2	50	39	11	46	46	0	strelka-varscan-mutect	PRLHR,missense_variant,p.Gln223Lys,ENST00000239032,NM_004248.2;PRLHR,missense_variant,p.Gln223Lys,ENST00000636925,;	T	ENST00000239032	Transcript	missense_variant	857/5446	667/1113	223/370	Q/K	Cag/Aag		1		-1	PRLHR	HGNC	HGNC:4464	protein_coding	YES	CCDS7606.1	ENSP00000239032	P49683		UPI000013CA6F	NM_004248.2	tolerated(0.22)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF194,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	118594578	118594578	G	T	1	0	0	0	0	1	0	0	0	12662	1357	47	2		2	PRLHR	10	118594578	Missense_Mutation	SNP	G	C3L-00144_TP	1910750	118594578	15202844	1013	5292											
PRLHR	0	.	GRCh38	chr10	118594705	118594705	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagcgcccagatggccagCacagcgtaggcgctgaggcg	9	3	16	13	4	0	2	0	1	0	1	0	3	0	2	2	3	3	3	2	3	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.540G>T	p.=	p.V180V	ENST00000239032	2/2	62	48	14	54	54	0	strelka-varscan-mutect	PRLHR,synonymous_variant,p.=,ENST00000239032,NM_004248.2;PRLHR,synonymous_variant,p.=,ENST00000636925,;	A	ENST00000239032	Transcript	synonymous_variant	730/5446	540/1113	180/370	V	gtG/gtT		1		-1	PRLHR	HGNC	HGNC:4464	protein_coding	YES	CCDS7606.1	ENSP00000239032	P49683		UPI000013CA6F	NM_004248.2			2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF194,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	118594705	118594705	C	A	1	0	0	0	0	0	0	0	1	12662	697	25	2		2	PRLHR	10	118594705	Silent	SNP	C	C3L-00144_TP	127	118594705	15202717	1014	5293											
CACUL1	0	.	GRCh38	chr10	118686641	118686641	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttccgggactggtcaccCctggggataagaagaggcag	9	7	14	11	1	2	2	1	0	1	2	3	4	3	4	3	5	0	1	3	5	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1026G>T	p.Arg342Ser	p.R342S	ENST00000369151	8/9	201	157	44	183	182	1	strelka-varscan-mutect	CACUL1,missense_variant,p.Arg342Ser,ENST00000369151,NM_153810.4;CACUL1,splice_region_variant,,ENST00000544392,;CACUL1,splice_region_variant,,ENST00000493518,;CACUL1,splice_region_variant,,ENST00000489169,;CACUL1,non_coding_transcript_exon_variant,,ENST00000490610,;	A	ENST00000369151	Transcript	missense_variant,splice_region_variant	1510/11311	1026/1110	342/369	R/S	agG/agT		1		-1	CACUL1	HGNC	HGNC:23727	protein_coding	YES	CCDS41570.1	ENSP00000358147	Q86Y37		UPI000000DCD0	NM_153810.4	tolerated(0.26)		8/9		hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF78																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	118686641	118686641	C	A	1	0	0	0	0	1	0	0	0	2253	637	22	2		2	CACUL1	10	118686641	Missense_Mutation	SNP	C	C3L-00144_TP	91936	118686641	15110781	1015	5294											
SEC23IP	0	.	GRCh38	chr10	119909089	119909089	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcagtggcaccgaagattaGagtttccaagtggagagaca	14	8	12	7	1	1	3	1	0	0	3	2	6	2	4	2	2	0	2	2	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1150G>C	p.Glu384Gln	p.E384Q	ENST00000369075	5/19	167	141	26	168	168	0	strelka-varscan-mutect	SEC23IP,missense_variant,p.Glu384Gln,ENST00000369075,NM_007190.3;SEC23IP,missense_variant,p.Glu384Gln,ENST00000543134,;SEC23IP,intron_variant,,ENST00000446561,;SEC23IP,downstream_gene_variant,,ENST00000442952,;	C	ENST00000369075	Transcript	missense_variant	1222/7168	1150/3003	384/1000	E/Q	Gag/Cag		1		1	SEC23IP	HGNC	HGNC:17018	protein_coding	YES	CCDS7618.1	ENSP00000358071	Q9Y6Y8		UPI000006FCCE	NM_007190.3	deleterious(0.01)		5/19		hmmpanther:PTHR23509:SF4,hmmpanther:PTHR23509																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	119909089	119909089	G	C	1	0	0	0	0	1	0	0	0	14270	943	33	4		4	SEC23IP	10	119909089	Missense_Mutation	SNP	G	C3L-00144_TP	1222448	119909089	13888333	1016	5295											
TACC2	0	.	GRCh38	chr10	122085869	122085869	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcccatcagctggggagcaAggtggtgaagccggggctgc	7	7	17	10	1	1	1	1	1	0	0	2	2	2	2	2	6	4	3	2	6	2	1	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.3369A>C	p.Gln1123His	p.Q1123H	ENST00000369005	4/23	67	61	6	49	49	0	strelka-mutect	TACC2,missense_variant,p.Gln1123His,ENST00000369005,NM_206862.3;TACC2,missense_variant,p.Gln1123His,ENST00000334433,;TACC2,missense_variant,p.Gln1123His,ENST00000515273,NM_001291877.1;TACC2,missense_variant,p.Gln1123His,ENST00000453444,;TACC2,missense_variant,p.Gln1123His,ENST00000515603,NM_001291876.1;TACC2,intron_variant,,ENST00000513429,NM_206861.2;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;	C	ENST00000369005	Transcript	missense_variant	3709/9673	3369/8847	1123/2948	Q/H	caA/caC		1		1	TACC2	HGNC	HGNC:11523	protein_coding	YES	CCDS7626.1	ENSP00000358001	O95359		UPI0000246F6B	NM_206862.3	deleterious(0)		4/23		Low_complexity_(Seg):seg,hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	122085869	122085869	A	C	1	0	0	0	0	1	0	0	0	15898	69	3	5		5	TACC2	10	122085869	Missense_Mutation	SNP	A	C3L-00144_TP	2176780	122085869	11711553	1017	5296											
CPXM2	0	.	GRCh38	chr10	123746885	123746885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttggttttgctaagtGtgaagtcacaccttgtggcc	7	14	11	9	0	1	1	1	1	0	0	1	1	1	1	3	2	1	3	3	2	2	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2150C>A	p.Thr717Lys	p.T717K	ENST00000241305	14/14	348	270	78	304	304	0	strelka-varscan-mutect	CPXM2,missense_variant,p.Thr717Lys,ENST00000241305,NM_198148.2;CPXM2,intron_variant,,ENST00000615851,;CPXM2,intron_variant,,ENST00000368854,;	T	ENST00000241305	Transcript	missense_variant	2305/3554	2150/2271	717/756	T/K	aCa/aAa		1		-1	CPXM2	HGNC	HGNC:26977	protein_coding	YES	CCDS7637.1	ENSP00000241305	Q8N436		UPI00001AE6BE	NM_198148.2	tolerated(0.23)		14/14		hmmpanther:PTHR11532:SF45,hmmpanther:PTHR11532,Pfam_domain:PF13620,Gene3D:2.60.40.1120,SMART_domains:SM00631,Superfamily_domains:SSF49464																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	123746885	123746885	G	T	1	0	0	0	0	1	0	0	0	3636	1377	48	2		2	CPXM2	10	123746885	Missense_Mutation	SNP	G	C3L-00144_TP	1661016	123746885	10050537	1018	5297											
CPXM2	0	.	GRCh38	chr10	123761982	123761982	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatgaggcggtgtgtggagGcataggagtaggccagccag	9	7	18	7	1	1	1	1	1	0	0	1	3	1	3	2	6	1	2	2	6	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1667C>G	p.Ala556Gly	p.A556G	ENST00000241305	11/14	128	111	17	127	127	0	strelka-varscan-mutect	CPXM2,missense_variant,p.Ala556Gly,ENST00000241305,NM_198148.2;CPXM2,missense_variant,p.Ala52Gly,ENST00000615851,;CPXM2,non_coding_transcript_exon_variant,,ENST00000368854,;	C	ENST00000241305	Transcript	missense_variant	1822/3554	1667/2271	556/756	A/G	gCc/gGc		1		-1	CPXM2	HGNC	HGNC:26977	protein_coding	YES	CCDS7637.1	ENSP00000241305	Q8N436		UPI00001AE6BE	NM_198148.2	deleterious(0)		11/14		hmmpanther:PTHR11532:SF45,hmmpanther:PTHR11532,Pfam_domain:PF00246,Gene3D:3.40.630.10,SMART_domains:SM00631,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	123761982	123761982	G	C	1	0	0	0	0	1	0	0	0	3636	1203	42	4		4	CPXM2	10	123761982	Missense_Mutation	SNP	G	C3L-00144_TP	15097	123761982	10035440	1019	5298											
CPXM2	0	.	GRCh38	chr10	123768618	123768618	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggacgatgcgcgcattccGggccaagtactcctgacaca	9	7	12	13	4	0	1	0	1	0	0	2	3	2	2	3	2	2	2	3	2	2	2	rs140548347		C3L-00144_TP	C3L-00144_NB	G	G																c.1207C>A	p.=	p.R403R	ENST00000241305	9/14	166	145	21	164	164	0	strelka-varscan-mutect	CPXM2,synonymous_variant,p.=,ENST00000241305,NM_198148.2;CPXM2,5_prime_UTR_variant,,ENST00000615851,;CPXM2,non_coding_transcript_exon_variant,,ENST00000368854,;	T	ENST00000241305	Transcript	synonymous_variant	1362/3554	1207/2271	403/756	R	Cgg/Agg	rs140548347	1		-1	CPXM2	HGNC	HGNC:26977	protein_coding	YES	CCDS7637.1	ENSP00000241305	Q8N436		UPI00001AE6BE	NM_198148.2			9/14		hmmpanther:PTHR11532:SF45,hmmpanther:PTHR11532,Pfam_domain:PF00246,Gene3D:3.40.630.10,Superfamily_domains:SSF53187																	LOW	1	SNV	1			1										PASS		rs140548347	.												T	2	4	12	123768618	123768618	G	T	1	0	0	0	0	0	0	0	1	3636	1115	39	1		1	CPXM2	10	123768618	Silent	SNP	G	C3L-00144_TP	6636	123768618	10028804	1020	5299											
FAM53B	0	.	GRCh38	chr10	124682170	124682170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcggagaaggacagtgagcGgcactggcgcttgctagggg	9	6	18	8	3	0	2	0	1	0	1	1	4	0	3	0	6	2	3	0	6	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.343C>A	p.Arg115Ser	p.R115S	ENST00000337318	4/5	171	149	22	163	162	1	strelka-varscan-mutect	FAM53B,missense_variant,p.Arg115Ser,ENST00000337318,NM_014661.3;FAM53B,missense_variant,p.Arg115Ser,ENST00000392754,;FAM53B,missense_variant,p.Arg115Ser,ENST00000280780,;RP11-12J10.3,3_prime_UTR_variant,,ENST00000494792,;	T	ENST00000337318	Transcript	missense_variant	555/5431	343/1269	115/422	R/S	Cgc/Agc		1		-1	FAM53B	HGNC	HGNC:28968	protein_coding	YES	CCDS7641.1	ENSP00000338532	Q14153		UPI000013DC3C	NM_014661.3	deleterious(0)		4/5		hmmpanther:PTHR28567:SF1,hmmpanther:PTHR28567,Pfam_domain:PF15242																	MODERATE	1	SNV	1			1										PASS		rs953554433	.												T	3	4	12	124682170	124682170	G	T	1	0	0	0	0	1	0	0	0	5456	1116	39	1		1	FAM53B	10	124682170	Missense_Mutation	SNP	G	C3L-00144_TP	913552	124682170	9115252	1021	5300											
C10orf90	0	.	GRCh38	chr10	126504397	126504397	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggacggagagagacttgTctacgtaatagattgaatct	12	11	13	5	2	2	4	0	1	2	3	2	7	2	5	0	3	1	1	0	3	4	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.803A>T	p.Asp268Val	p.D268V	ENST00000284694	3/9	275	208	67	244	244	0	strelka-varscan-mutect	C10orf90,missense_variant,p.Asp268Val,ENST00000284694,NM_001004298.2;C10orf90,missense_variant,p.Asp221Val,ENST00000356858,;C10orf90,missense_variant,p.Asp268Val,ENST00000432642,;C10orf90,upstream_gene_variant,,ENST00000424927,;C10orf90,downstream_gene_variant,,ENST00000488181,;C10orf90,non_coding_transcript_exon_variant,,ENST00000368674,;C10orf90,downstream_gene_variant,,ENST00000463082,;	A	ENST00000284694	Transcript	missense_variant	924/3076	803/2100	268/699	D/V	gAc/gTc		1		-1	C10orf90	HGNC	HGNC:26563	protein_coding	YES	CCDS31310.1	ENSP00000284694	Q96M02		UPI00001D808F	NM_001004298.2	deleterious(0)		3/9		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	126504397	126504397	T	A	1	0	0	0	0	1	0	0	0	1773	1667	58	4		4	C10orf90	10	126504397	Missense_Mutation	SNP	T	C3L-00144_TP	1822227	126504397	7293025	1022	5301											
DOCK1	0	.	GRCh38	chr10	127384879	127384879	+	Frame_Shift_Del	DEL	G	G	-																															ctgaaggagcagctctaccaGgaaatcatccactacttcga																								rs780031433		C3L-00144_TP	C3L-00144_NB	G	G																c.3898delG	p.Glu1300LysfsTer22	p.E1300Kfs*22	ENST00000623213	38/52	97	73	24	81	81	0	sindel-varindel-pindel	DOCK1,frameshift_variant,p.Glu1279LysfsTer22,ENST00000280333,NM_001380.4;DOCK1,frameshift_variant,p.Glu1300LysfsTer22,ENST00000623213,NM_001290223.1;	-	ENST00000623213	Transcript	frameshift_variant	3959/5761	3897/5661	1299/1886	Q/X	caG/ca	rs780031433	1		1	DOCK1	HGNC	HGNC:2987	protein_coding	YES	CCDS76359.1	ENSP00000485033		A0A096LNH6	UPI0003EAEE97	NM_001290223.1			38/52		PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF79,hmmpanther:PTHR23317,Pfam_domain:PF06920																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	12	127384879	127384879	G	-	1	0	1	0	1	0	0	0	0	4499	991	35	0		0	DOCK1	10	127384879	Frame_Shift_Del	DEL	G	C3L-00144_TP	880482	127384879	6412543	1023	5302											
MGMT	0	.	GRCh38	chr10	129708016	129708016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgaagagttccccgtgccgGctcttcaccatcccgttttc	5	12	8	16	4	2	1	1	0	1	1	6	2	4	1	5	1	1	3	5	1	1	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.340G>T	p.Ala114Ser	p.A114S	ENST00000306010	3/5	138	125	13	152	151	1	strelka-varscan-mutect	MGMT,missense_variant,p.Ala114Ser,ENST00000306010,NM_002412.3;MGMT,non_coding_transcript_exon_variant,,ENST00000462672,;	T	ENST00000306010	Transcript	missense_variant	372/1759	340/717	114/238	A/S	Gct/Tct		1		1	MGMT	HGNC	HGNC:7059	protein_coding	YES	CCDS7660.2	ENSP00000302111	P16455	B4DEE8	UPI00017A6D43	NM_002412.3	tolerated(0.09)		3/5		Gene3D:3l00A01,Pfam_domain:PF02870,hmmpanther:PTHR10815,hmmpanther:PTHR10815:SF5,Superfamily_domains:SSF53155																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	129708016	129708016	G	T	1	0	0	0	0	1	0	0	0	9514	1203	42	2		2	MGMT	10	129708016	Missense_Mutation	SNP	G	C3L-00144_TP	2323137	129708016	4089406	1024	5303											
CFAP46	0	.	GRCh38	chr10	132919319	132919319	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagggcgggtacgaacctcgCcgcagcctcaacttcttcac	8	7	11	15	4	3	0	2	0	1	0	4	2	3	0	3	2	4	2	3	2	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1854G>T	p.=	p.R618R	ENST00000368586	15/58	95	75	20	66	66	0	strelka-varscan-mutect	CFAP46,synonymous_variant,p.=,ENST00000368586,NM_001200049.2;CFAP46,upstream_gene_variant,,ENST00000486104,;	A	ENST00000368586	Transcript	synonymous_variant	1955/8278	1854/8148	618/2715	R	cgG/cgT		1		-1	CFAP46	HGNC	HGNC:25247	protein_coding	YES	CCDS58101.1	ENSP00000357575	Q8IYW2		UPI0001B79116	NM_001200049.2			15/58		Low_complexity_(Seg):seg,hmmpanther:PTHR15977,hmmpanther:PTHR15977:SF15																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	12	132919319	132919319	C	A	1	0	0	0	0	0	0	0	1	3021	753	26	2		2	CFAP46	10	132919319	Silent	SNP	C	C3L-00144_TP	3211303	132919319	878103	1025	5304											
LMNTD2	0	.	GRCh38	chr11	558708	558708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaaggcctggatctccaGttctcgctgtctccacagca	7	9	9	16	2	3	0	0	0	3	0	6	1	3	1	4	2	1	4	4	2	1	1			C3L-00144_TP	C3L-00144_NB	G	G																c.217C>A	p.Leu73Met	p.L73M	ENST00000329451	3/14	131	120	11	142	141	1	strelka-varscan-mutect	LMNTD2,missense_variant,p.Leu73Met,ENST00000329451,NM_173573.2;LMNTD2,missense_variant,p.Leu80Met,ENST00000441853,;LMNTD2,missense_variant,p.Leu83Met,ENST00000486629,;LRRC56,downstream_gene_variant,,ENST00000270115,NM_198075.3;RASSF7,upstream_gene_variant,,ENST00000397583,NM_003475.3;RASSF7,upstream_gene_variant,,ENST00000431809,;RASSF7,upstream_gene_variant,,ENST00000397582,NM_001143993.1;RASSF7,upstream_gene_variant,,ENST00000454668,NM_001143994.1;RASSF7,upstream_gene_variant,,ENST00000528736,;RP11-496I9.1,non_coding_transcript_exon_variant,,ENST00000527620,;RP11-496I9.1,upstream_gene_variant,,ENST00000533844,;RP11-496I9.1,upstream_gene_variant,,ENST00000527113,;RASSF7,upstream_gene_variant,,ENST00000524468,;LMNTD2,non_coding_transcript_exon_variant,,ENST00000492515,;RASSF7,upstream_gene_variant,,ENST00000414138,;LMNTD2,upstream_gene_variant,,ENST00000469990,;RASSF7,upstream_gene_variant,,ENST00000531112,;	T	ENST00000329451	Transcript	missense_variant	280/2084	217/1905	73/634	L/M	Ctg/Atg	COSM4666607	1		-1	LMNTD2	HGNC	HGNC:28561	protein_coding	YES	CCDS7701.1	ENSP00000331167	Q8IXW0		UPI0000456441	NM_173573.2	deleterious(0)		3/14		hmmpanther:PTHR19956,hmmpanther:PTHR19956:SF5											1						MODERATE	1	SNV	1		1	1										PASS		rs1459243090	.												T	3	4	12	558708	558708	G	T	1	0	0	0	0	1	0	0	0	8776	1020	36	2		2	LMNTD2	11	558708	Missense_Mutation	SNP	G	C3L-00144_TP		558708	134527914	1026	5305											
RASSF7	0	.	GRCh38	chr11	562622	562622	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggctgagctgcagcTggcagcggaggcccctgggc	5	5	18	13	1	0	1	0	1	0	0	0	3	0	3	3	6	4	5	3	6	0	0	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.668T>C	p.Leu223Pro	p.L223P	ENST00000397583	3/6	153	138	15	122	122	0	strelka-mutect	RASSF7,missense_variant,p.Leu223Pro,ENST00000397583,NM_003475.3;RASSF7,missense_variant,p.Leu223Pro,ENST00000431809,;RASSF7,missense_variant,p.Leu223Pro,ENST00000397582,NM_001143993.1;RASSF7,missense_variant,p.Leu223Pro,ENST00000454668,NM_001143994.1;LMNTD2,upstream_gene_variant,,ENST00000329451,NM_173573.2;LMNTD2,upstream_gene_variant,,ENST00000441853,;LMNTD2,upstream_gene_variant,,ENST00000486629,;RASSF7,downstream_gene_variant,,ENST00000528736,;MIR210HG,downstream_gene_variant,,ENST00000500447,;MIR210HG,downstream_gene_variant,,ENST00000533920,;MIR210HG,downstream_gene_variant,,ENST00000528245,;MIR210HG,downstream_gene_variant,,ENST00000534540,;RP11-496I9.1,downstream_gene_variant,,ENST00000527620,;RP11-496I9.1,downstream_gene_variant,,ENST00000533844,;RP11-496I9.1,downstream_gene_variant,,ENST00000527113,;RASSF7,downstream_gene_variant,,ENST00000524468,;RASSF7,missense_variant,p.Leu80Pro,ENST00000531112,;RASSF7,3_prime_UTR_variant,,ENST00000414138,;LMNTD2,upstream_gene_variant,,ENST00000492515,;	C	ENST00000397583	Transcript	missense_variant	1101/1928	668/1122	223/373	L/P	cTg/cCg		1		1	RASSF7	HGNC	HGNC:1166	protein_coding	YES	CCDS7702.1	ENSP00000380713	Q02833	A0A024RCE4	UPI0000127A61	NM_003475.3	deleterious(0.05)		3/6		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF11,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	562622	562622	T	C	1	0	0	0	0	1	0	0	0	13252	1580	55	5		5	RASSF7	11	562622	Missense_Mutation	SNP	T	C3L-00144_TP	3914	562622	134524000	1027	5306											
PHRF1	0	.	GRCh38	chr11	601696	601696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagagaagagggaagaagGtaaaggtgagcattgggtgg	16	5	19	1	0	0	5	0	1	0	4	0	7	0	6	0	5	1	2	0	5	6	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1147G>T	p.Val383Leu	p.V383L	ENST00000264555	10/18	146	138	8	105	105	0	strelka-mutect	PHRF1,missense_variant,p.Val383Leu,ENST00000264555,NM_001286581.1;PHRF1,missense_variant,p.Val383Leu,ENST00000416188,NM_020901.3;PHRF1,missense_variant,p.Val382Leu,ENST00000413872,NM_001286582.1;PHRF1,missense_variant,p.Val379Leu,ENST00000533464,NM_001286583.1;PHRF1,missense_variant,p.Val383Leu,ENST00000534320,;PHRF1,non_coding_transcript_exon_variant,,ENST00000532550,;	T	ENST00000264555	Transcript	missense_variant	1275/5523	1147/4950	383/1649	V/L	Gta/Tta		1		1	PHRF1	HGNC	HGNC:24351	protein_coding	YES	CCDS65988.1	ENSP00000264555	Q9P1Y6	A0A024RCA1	UPI000041A715	NM_001286581.1	tolerated(0.48)		10/18		Low_complexity_(Seg):seg,hmmpanther:PTHR12618:SF5,hmmpanther:PTHR12618																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	601696	601696	G	T	1	0	0	0	0	1	0	0	0	11949	1275	44	2		2	PHRF1	11	601696	Missense_Mutation	SNP	G	C3L-00144_TP	39074	601696	134484926	1028	5307											
SLC25A22	0	.	GRCh38	chr11	794489	794489	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccgaagtagccctcggagcgGacggtcttgatgaggcagtc	8	7	15	11	4	1	2	0	2	1	0	3	5	1	4	2	4	2	2	2	4	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.171C>G	p.=	p.V57V	ENST00000320230	4/10	389	298	91	335	335	0	strelka-varscan-mutect	SLC25A22,synonymous_variant,p.=,ENST00000320230,NM_024698.5;SLC25A22,synonymous_variant,p.=,ENST00000628067,NM_001191061.1;SLC25A22,synonymous_variant,p.=,ENST00000531214,NM_001191060.1;SLC25A22,synonymous_variant,p.=,ENST00000481290,;SLC25A22,synonymous_variant,p.=,ENST00000627843,;SLC25A22,synonymous_variant,p.=,ENST00000532484,;SLC25A22,synonymous_variant,p.=,ENST00000531534,;SLC25A22,synonymous_variant,p.=,ENST00000625419,;SLC25A22,synonymous_variant,p.=,ENST00000531437,;SLC25A22,synonymous_variant,p.=,ENST00000533385,;SLC25A22,synonymous_variant,p.=,ENST00000528606,;SLC25A22,synonymous_variant,p.=,ENST00000530360,;SLC25A22,synonymous_variant,p.=,ENST00000625752,;SLC25A22,synonymous_variant,p.=,ENST00000527723,;SLC25A22,synonymous_variant,p.=,ENST00000456706,;SLC25A22,synonymous_variant,p.=,ENST00000629634,;SLC25A22,synonymous_variant,p.=,ENST00000528936,;SLC25A22,synonymous_variant,p.=,ENST00000526152,;SLC25A22,synonymous_variant,p.=,ENST00000529066,;PIDD1,downstream_gene_variant,,ENST00000347755,NM_145886.3;PIDD1,downstream_gene_variant,,ENST00000411829,NM_145887.3;PANO1,upstream_gene_variant,,ENST00000620120,NM_001293167.1;CEND1,upstream_gene_variant,,ENST00000330106,NM_016564.3;SLC25A22,non_coding_transcript_exon_variant,,ENST00000625316,;SLC25A22,non_coding_transcript_exon_variant,,ENST00000629602,;PIDD1,downstream_gene_variant,,ENST00000527812,;CEND1,upstream_gene_variant,,ENST00000524587,;SLC25A22,synonymous_variant,p.=,ENST00000529351,;SLC25A22,synonymous_variant,p.=,ENST00000531514,;SLC25A22,synonymous_variant,p.=,ENST00000527734,;SLC25A22,non_coding_transcript_exon_variant,,ENST00000532361,;SLC25A22,non_coding_transcript_exon_variant,,ENST00000527127,;SLC25A22,non_coding_transcript_exon_variant,,ENST00000532459,;SLC25A22,non_coding_transcript_exon_variant,,ENST00000524891,;SLC25A22,non_coding_transcript_exon_variant,,ENST00000525010,;SLC25A22,non_coding_transcript_exon_variant,,ENST00000525644,;PIDD1,downstream_gene_variant,,ENST00000527357,;PIDD1,downstream_gene_variant,,ENST00000534525,;PIDD1,downstream_gene_variant,,ENST00000524486,;PIDD1,downstream_gene_variant,,ENST00000525028,;PIDD1,downstream_gene_variant,,ENST00000531286,;SLC25A22,upstream_gene_variant,,ENST00000630809,;	C	ENST00000320230	Transcript	synonymous_variant	555/2796	171/972	57/323	V	gtC/gtG		1		-1	SLC25A22	HGNC	HGNC:19954	protein_coding	YES	CCDS7715.1	ENSP00000322020	Q9H936		UPI0000073CD3	NM_024698.5			4/10		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF380																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	12	794489	794489	G	C	1	0	0	0	0	0	0	0	1	14750	1161	41	4		4	SLC25A22	11	794489	Silent	SNP	G	C3L-00144_TP	192793	794489	134292133	1029	5308											
AP2A2	0	.	GRCh38	chr11	1008113	1008113	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtccgacttcacggaggcgCcagtcctcaacattcagttc	8	10	9	14	3	3	0	3	0	0	0	6	2	5	1	3	2	1	1	3	2	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2401C>G	p.Pro801Ala	p.P801A	ENST00000332231	18/22	121	111	10	124	124	0	strelka-varscan-mutect	AP2A2,missense_variant,p.Pro801Ala,ENST00000332231,NM_001242837.1;AP2A2,missense_variant,p.Pro800Ala,ENST00000448903,NM_012305.3;AP2A2,intron_variant,,ENST00000534328,;MUC6,downstream_gene_variant,,ENST00000421673,NM_005961.2;AP2A2,non_coding_transcript_exon_variant,,ENST00000525891,;AP2A2,non_coding_transcript_exon_variant,,ENST00000529438,;AP2A2,3_prime_UTR_variant,,ENST00000528815,;AP2A2,non_coding_transcript_exon_variant,,ENST00000531497,;AP2A2,non_coding_transcript_exon_variant,,ENST00000526401,;AP2A2,non_coding_transcript_exon_variant,,ENST00000529427,;AP2A2,upstream_gene_variant,,ENST00000528816,;AP2A2,downstream_gene_variant,,ENST00000526376,;	G	ENST00000332231	Transcript	missense_variant	2614/4656	2401/2823	801/940	P/A	Cca/Gca		1		1	AP2A2	HGNC	HGNC:562	protein_coding	YES	CCDS73234.1	ENSP00000327694	O94973		UPI000050AA18	NM_001242837.1	deleterious(0)		18/22		hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF24,Gene3D:1kyfA01,PIRSF_domain:PIRSF037091,Pfam_domain:PF02883,SMART_domains:SM00809,Superfamily_domains:SSF49348																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	1008113	1008113	C	G	1	0	0	0	0	1	0	0	0	856	739	26	4		4	AP2A2	11	1008113	Missense_Mutation	SNP	C	C3L-00144_TP	213624	1008113	134078509	1030	5309											
MUC6	0	.	GRCh38	chr11	1026129	1026129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgacaggcccacctcccCcttgagcaggagctgtggag	7	7	13	14	0	0	2	0	2	0	0	1	4	1	4	4	3	3	3	4	3	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2559G>T	p.Arg853Ser	p.R853S	ENST00000421673	21/33	86	64	22	93	93	0	strelka-varscan-mutect	MUC6,missense_variant,p.Arg853Ser,ENST00000421673,NM_005961.2;	A	ENST00000421673	Transcript	missense_variant	2610/8006	2559/7320	853/2439	R/S	agG/agT		1		-1	MUC6	HGNC	HGNC:7517	protein_coding	YES	CCDS44513.1	ENSP00000406861	Q6W4X9		UPI0000251DBE	NM_005961.2	tolerated(0.2)		21/33		hmmpanther:PTHR11339:SF264,hmmpanther:PTHR11339,SMART_domains:SM00215																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	1026129	1026129	C	A	1	0	0	0	0	1	0	0	0	9980	622	22	2		2	MUC6	11	1026129	Missense_Mutation	SNP	C	C3L-00144_TP	18016	1026129	134060493	1031	5310											
MUC5AC	0	.	GRCh38	chr11	1187003	1187003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tactcccagccctgttcctaCcaccagcacaatctctgttc	8	11	4	18	0	1	0	0	0	1	0	5	0	3	0	5	0	4	3	5	0	3	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.8858C>A	p.Thr2953Asn	p.T2953N	ENST00000621226	31/49	195	180	15	233	233	0	varscan-mutect	MUC5AC,missense_variant,p.Thr2953Asn,ENST00000621226,NM_001304359.1;	A	ENST00000621226	Transcript	missense_variant	8905/17448	8858/16965	2953/5654	T/N	aCc/aAc		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	tolerated_low_confidence(0.24)		31/49		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs1365799715	.												A	3	1	12	1187003	1187003	C	A	1	0	0	0	0	1	0	0	0	9978	507	18	2		2	MUC5AC	11	1187003	Missense_Mutation	SNP	C	C3L-00144_TP	160874	1187003	133899619	1032	5311											
MUC5AC	0	.	GRCh38	chr11	1192916	1192916	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcctgccccagccacgtcCccttcaatatccacctccga	7	8	4	22	2	1	0	1	0	0	0	5	1	5	0	10	0	2	0	10	0	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.14514C>A	p.=	p.S4838S	ENST00000621226	32/49	122	111	11	142	141	1	strelka-varscan-mutect	MUC5AC,synonymous_variant,p.=,ENST00000621226,NM_001304359.1;	A	ENST00000621226	Transcript	synonymous_variant	14561/17448	14514/16965	4838/5654	S	tcC/tcA		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1			32/49		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	12	1192916	1192916	C	A	1	0	0	0	0	0	0	0	1	9978	610	22	2		2	MUC5AC	11	1192916	Silent	SNP	C	C3L-00144_TP	5913	1192916	133893706	1033	5312											
MUC5B	0	.	GRCh38	chr11	1226644	1226644	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcacaatgggcgggtgTgcagcacctggggtgacttc	6	7	17	11	3	0	1	0	1	0	0	1	1	0	1	1	5	2	3	1	5	1	1	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.229T>A	p.Cys77Ser	p.C77S	ENST00000529681	4/49	171	159	12	180	180	0	strelka-varscan-mutect	MUC5B,missense_variant,p.Cys77Ser,ENST00000529681,NM_002458.2;MUC5B,non_coding_transcript_exon_variant,,ENST00000525715,;MUC5B,upstream_gene_variant,,ENST00000531082,;	A	ENST00000529681	Transcript	missense_variant	287/17911	229/17289	77/5762	C/S	Tgc/Agc		1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2	deleterious(0)		4/49		Pfam_domain:PF00094,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF269,SMART_domains:SM00216																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	1226644	1226644	T	A	1	0	0	0	0	1	0	0	0	9979	1696	59	4		4	MUC5B	11	1226644	Missense_Mutation	SNP	T	C3L-00144_TP	33728	1226644	133859978	1034	5313											
MUC5B	0	.	GRCh38	chr11	1233241	1233241	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtgctggctcctggagAggtggtgcacgacgagggcg	6	6	18	11	4	0	1	0	0	0	1	1	4	1	1	2	5	2	3	2	5	0	0	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2294A>T	p.Glu765Val	p.E765V	ENST00000529681	18/49	93	69	24	94	94	0	strelka-varscan-mutect	MUC5B,missense_variant,p.Glu765Val,ENST00000529681,NM_002458.2;MUC5B,non_coding_transcript_exon_variant,,ENST00000525715,;MUC5B,downstream_gene_variant,,ENST00000531082,;	T	ENST00000529681	Transcript	missense_variant	2352/17911	2294/17289	765/5762	E/V	gAg/gTg		1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2	deleterious(0)		18/49		Gene3D:2.10.25.10,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF269,SMART_domains:SM00214																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	1233241	1233241	A	T	1	0	0	0	0	1	0	0	0	9979	304	11	4		4	MUC5B	11	1233241	Missense_Mutation	SNP	A	C3L-00144_TP	6597	1233241	133853381	1035	5314											
MUC5B	0	.	GRCh38	chr11	1247688	1247688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctactccaacatccgtgCggccggaggggcagtctgtg	7	7	13	14	3	1	0	0	0	1	0	3	1	3	1	4	4	3	1	4	4	2	1	rs199536074		C3L-00144_TP	C3L-00144_NB	C	C																c.10808C>G	p.Ala3603Gly	p.A3603G	ENST00000529681	31/49	219	140	79	172	172	0	strelka-varscan-mutect	MUC5B,missense_variant,p.Ala3603Gly,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;	G	ENST00000529681	Transcript	missense_variant	10866/17911	10808/17289	3603/5762	A/G	gCg/gGg	rs199536074	1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2	tolerated(0.1)		31/49		Pfam_domain:PF13330																	MODERATE	1	SNV	5			1										PASS		rs199536074	.												G	3	3	12	1247688	1247688	C	G	1	0	0	0	0	1	0	0	0	9979	768	27	4		4	MUC5B	11	1247688	Missense_Mutation	SNP	C	C3L-00144_TP	14447	1247688	133838934	1036	5315											
KRTAP5-4	0	.	GRCh38	chr11	1621528	1621528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagcagcagggcttacagCagctggactggcagcagtag	11	5	16	9	0	0	0	0	0	0	0	0	2	0	2	0	4	6	8	0	4	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.566G>T	p.Cys189Phe	p.C189F	ENST00000399682	1/1	614	581	33	567	567	0	varscan-mutect	KRTAP5-4,missense_variant,p.Cys189Phe,ENST00000399682,;KRTAP5-4,missense_variant,p.Cys180Phe,ENST00000616115,;	A	ENST00000399682	Transcript	missense_variant	611/1181	566/687	189/228	C/F	tGc/tTc		1		-1	KRTAP5-4	HGNC	HGNC:23599	protein_coding	YES		ENSP00000382590		A8MUN0	UPI0000E592E4		deleterious_low_confidence(0)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262,Pfam_domain:PF13885																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	12	1621528	1621528	C	A	1	0	0	0	0	1	0	0	0	8458	710	25	2		2	KRTAP5-4	11	1621528	Missense_Mutation	SNP	C	C3L-00144_TP	373840	1621528	133465094	1037	5316											
TH	0	.	GRCh38	chr11	2168506	2168506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcacccttgggccccgcggGgctgcgcacgtcctctgaca	4	7	12	18	4	2	1	1	1	1	0	3	1	3	1	4	3	1	2	4	3	0	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.565C>A	p.Pro189Thr	p.P189T	ENST00000381178	4/14	326	258	68	301	301	0	strelka-varscan-mutect	TH,missense_variant,p.Pro189Thr,ENST00000381178,NM_199292.2;TH,missense_variant,p.Pro185Thr,ENST00000381175,NM_199293.2;TH,missense_variant,p.Pro158Thr,ENST00000352909,NM_000360.3;TH,missense_variant,p.Pro158Thr,ENST00000333684,;TH,upstream_gene_variant,,ENST00000412076,;MIR4686,upstream_gene_variant,,ENST00000584128,;TH,3_prime_UTR_variant,,ENST00000324155,;TH,3_prime_UTR_variant,,ENST00000381168,;TH,non_coding_transcript_exon_variant,,ENST00000469226,;TH,upstream_gene_variant,,ENST00000461172,;TH,upstream_gene_variant,,ENST00000479437,;TH,upstream_gene_variant,,ENST00000416223,;	T	ENST00000381178	Transcript	missense_variant	584/1910	565/1587	189/528	P/T	Ccc/Acc		1		-1	TH	HGNC	HGNC:11782	protein_coding	YES	CCDS7731.1	ENSP00000370571	P07101		UPI00001412DD	NM_199292.2	tolerated(0.85)		4/14		PROSITE_profiles:PS51410,hmmpanther:PTHR11473,hmmpanther:PTHR11473:SF18,PIRSF_domain:PIRSF000336,TIGRFAM_domain:TIGR01269,Gene3D:1.10.800.10,Superfamily_domains:SSF55021																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	2168506	2168506	G	T	1	0	0	0	0	1	0	0	0	16271	1232	43	2		2	TH	11	2168506	Missense_Mutation	SNP	G	C3L-00144_TP	546978	2168506	132918116	1038	5317											
TSPAN32	0	.	GRCh38	chr11	2302912	2302912	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccactttgctgtcatccgCcgagcgtccctggagaagaa	8	8	11	14	3	1	2	1	0	0	2	3	4	3	2	4	1	2	1	4	1	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.135C>G	p.=	p.R45R	ENST00000182290	2/10	148	127	21	115	115	0	strelka-varscan-mutect	TSPAN32,synonymous_variant,p.=,ENST00000182290,NM_139022.2;TSPAN32,synonymous_variant,p.=,ENST00000612299,;TSPAN32,synonymous_variant,p.=,ENST00000451520,;TSPAN32,synonymous_variant,p.=,ENST00000381121,;TSPAN32,synonymous_variant,p.=,ENST00000381117,;C11orf21,upstream_gene_variant,,ENST00000381153,;C11orf21,upstream_gene_variant,,ENST00000456145,NM_001142946.1;TSPAN32,non_coding_transcript_exon_variant,,ENST00000483227,;TSPAN32,non_coding_transcript_exon_variant,,ENST00000479508,;C11orf21,non_coding_transcript_exon_variant,,ENST00000495467,;C11orf21,upstream_gene_variant,,ENST00000470369,;TSPAN32,upstream_gene_variant,,ENST00000484523,;TSPAN32,missense_variant,p.Pro48Ala,ENST00000437313,;TSPAN32,synonymous_variant,p.=,ENST00000446063,;TSPAN32,synonymous_variant,p.=,ENST00000339046,;TSPAN32,non_coding_transcript_exon_variant,,ENST00000461200,;TSPAN32,non_coding_transcript_exon_variant,,ENST00000493924,;TSPAN32,non_coding_transcript_exon_variant,,ENST00000498313,;TSPAN32,non_coding_transcript_exon_variant,,ENST00000484104,;TSPAN32,non_coding_transcript_exon_variant,,ENST00000493948,;	G	ENST00000182290	Transcript	synonymous_variant	272/1318	135/963	45/320	R	cgC/cgG		1		1	TSPAN32	HGNC	HGNC:13410	protein_coding	YES	CCDS7733.1	ENSP00000182290	Q96QS1		UPI000013198B	NM_139022.2			2/10		Pfam_domain:PF00335,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF197																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	2302912	2302912	C	G	1	0	0	0	0	0	0	0	1	17152	726	26	4		4	TSPAN32	11	2302912	Silent	SNP	C	C3L-00144_TP	134406	2302912	132783710	1039	5318											
CHRNA10	0	.	GRCh38	chr11	3666259	3666259	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaaggtattggcaatggTggctacgtggtgcagtaggg	8	9	19	5	2	0	0	0	0	0	0	0	1	0	1	0	7	2	5	0	7	5	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1201A>T	p.Thr401Ser	p.T401S	ENST00000250699	5/5	149	131	18	128	127	1	strelka-varscan-mutect	CHRNA10,missense_variant,p.Thr401Ser,ENST00000250699,NM_020402.3;CHRNA10,3_prime_UTR_variant,,ENST00000534359,NM_001303034.1,NM_001303035.1;ART1,downstream_gene_variant,,ENST00000250693,NM_004314.2;NUP98,downstream_gene_variant,,ENST00000533346,;Y_RNA,upstream_gene_variant,,ENST00000364409,;Y_RNA,upstream_gene_variant,,ENST00000363331,;CHRNA10,downstream_gene_variant,,ENST00000493827,;CHRNA10,3_prime_UTR_variant,,ENST00000526599,;	A	ENST00000250699	Transcript	missense_variant	1273/1945	1201/1353	401/450	T/S	Acc/Tcc		1		-1	CHRNA10	HGNC	HGNC:13800	protein_coding	YES	CCDS7745.1	ENSP00000250699	Q9GZZ6		UPI0000038CF1	NM_020402.3	tolerated(0.17)		5/5		hmmpanther:PTHR18945:SF566,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	3666259	3666259	T	A	1	0	0	0	0	1	0	0	0	3142	1696	59	4		4	CHRNA10	11	3666259	Missense_Mutation	SNP	T	C3L-00144_TP	1363347	3666259	131420363	1040	5319											
OR52I1	0	.	GRCh38	chr11	4594635	4594635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctgaccccgtgcccagCagtctctacagtctgattgg	6	11	11	13	1	2	2	0	2	2	0	3	2	2	2	3	1	4	2	3	1	1	2			C3L-00144_TP	C3L-00144_NB	C	C																c.597C>A	p.Ser199Arg	p.S199R	ENST00000530443	1/1	238	182	56	199	198	1	strelka-varscan-mutect	OR52I1,missense_variant,p.Ser224Arg,ENST00000450052,;OR52I1,missense_variant,p.Ser199Arg,ENST00000530443,NM_001005169.1;TRIM68,downstream_gene_variant,,ENST00000300747,NM_018073.7;TRIM68,downstream_gene_variant,,ENST00000531101,;	A	ENST00000530443	Transcript	missense_variant	597/975	597/975	199/324	S/R	agC/agA	COSM4032958	1		1	OR52I1	HGNC	HGNC:15220	protein_coding	YES	CCDS59223.1	ENSP00000436453	Q8NGK6		UPI0000046AE5	NM_001005169.1	deleterious(0.04)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF86,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											1						MODERATE		SNV			1	1										PASS		.	.												A	3	1	12	4594635	4594635	C	A	1	0	0	0	0	1	0	0	0	11193	709	25	2		2	OR52I1	11	4594635	Missense_Mutation	SNP	C	C3L-00144_TP	928376	4594635	130491987	1041	5320											
OR52A5	0	.	GRCh38	chr11	5132183	5132183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtattataagaatggcagCcctgagtgtcaccccaagtc	12	9	10	10	0	1	2	1	1	0	1	2	2	1	2	3	2	1	2	3	2	5	3	rs771107155		C3L-00144_TP	C3L-00144_NB	C	C																c.460G>T	p.Ala154Ser	p.A154S	ENST00000307388	1/1	149	110	39	107	107	0	strelka-varscan-mutect	OR52A5,missense_variant,p.Ala154Ser,ENST00000307388,NM_001005160.2;	A	ENST00000307388	Transcript	missense_variant	460/951	460/951	154/316	A/S	Gct/Tct	rs771107155	1		-1	OR52A5	HGNC	HGNC:19580	protein_coding	YES	CCDS31373.1	ENSP00000303469	Q9H2C5	A0A126GWD2	UPI0000046AEF	NM_001005160.2	tolerated(0.24)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF48,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	12	5132183	5132183	C	A	1	0	0	0	0	1	0	0	0	11183	739	26	2		2	OR52A5	11	5132183	Missense_Mutation	SNP	C	C3L-00144_TP	537548	5132183	129954439	1042	5321											
UBQLNL	0	.	GRCh38	chr11	5515649	5515649	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagggcattattcccacCtggcattgtctctaagccca	9	10	7	15	0	1	0	0	0	1	0	3	0	2	0	4	2	1	2	4	2	2	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.793G>T	p.Gly265Cys	p.G265C	ENST00000380184	1/1	237	218	19	224	224	0	strelka-varscan-mutect	UBQLNL,missense_variant,p.Gly265Cys,ENST00000380184,NM_145053.4;HBG2,intron_variant,,ENST00000380259,;OLFM5P,downstream_gene_variant,,ENST00000411807,;	A	ENST00000380184	Transcript	missense_variant	1057/2313	793/1428	265/475	G/C	Ggt/Tgt		1		-1	UBQLNL	HGNC	HGNC:28294	protein_coding	YES	CCDS31385.1	ENSP00000369531	Q8IYU4		UPI000066D8EC	NM_145053.4	deleterious(0.03)		1/1		hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF9																	MODERATE		SNV				1										PASS		.	.												A	3	1	12	5515649	5515649	C	A	1	0	0	0	0	1	0	0	0	17424	681	24	2		2	UBQLNL	11	5515649	Missense_Mutation	SNP	C	C3L-00144_TP	383466	5515649	129570973	1043	5322											
OR52N1	0	.	GRCh38	chr11	5788722	5788722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtacatggtacacagtGggaaggagatccacaaatgc	13	8	12	8	0	0	1	0	0	0	1	1	3	1	2	1	3	4	3	1	3	4	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.95C>A	p.Pro32Gln	p.P32Q	ENST00000317078	1/1	166	137	29	106	105	1	strelka-varscan-mutect	OR52N1,missense_variant,p.Pro32Gln,ENST00000317078,NM_001001913.1;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	T	ENST00000317078	Transcript	missense_variant	95/963	95/963	32/320	P/Q	cCa/cAa		1		-1	OR52N1	HGNC	HGNC:14853	protein_coding	YES	CCDS31398.1	ENSP00000322823	Q8NH53		UPI0000041BDD	NM_001001913.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF145,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1338831953	.												T	3	4	12	5788722	5788722	G	T	1	0	0	0	0	1	0	0	0	11200	1348	47	2		2	OR52N1	11	5788722	Missense_Mutation	SNP	G	C3L-00144_TP	273073	5788722	129297900	1044	5323											
OR56A3	0	.	GRCh38	chr11	5947887	5947887	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaatgtcattgagaacTgcatctgtgccaatatgtct	13	12	9	7	0	3	2	1	1	2	2	3	4	3	2	1	0	3	1	1	0	5	2	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.541T>A	p.Cys181Ser	p.C181S	ENST00000329564	1/1	166	157	9	144	144	0	strelka-varscan-mutect	OR56A3,missense_variant,p.Cys181Ser,ENST00000329564,NM_001003443.2;AC025016.1,downstream_gene_variant,,ENST00000528915,;	A	ENST00000329564	Transcript	missense_variant	548/1022	541/948	181/315	C/S	Tgc/Agc		1		1	OR56A3	HGNC	HGNC:14786	protein_coding	YES	CCDS41614.1	ENSP00000331572	Q8NH54	A0A126GWL6	UPI0000041BF7	NM_001003443.2	tolerated(0.05)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF40,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE		SNV				1										PASS		.	.												A	3	1	12	5947887	5947887	T	A	1	0	0	0	0	1	0	0	0	11206	1580	55	4		4	OR56A3	11	5947887	Missense_Mutation	SNP	T	C3L-00144_TP	159165	5947887	129138735	1045	5324											
OR52L1	0	.	GRCh38	chr11	5986083	5986083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgatggggtacatgatgaCcaaagcggtgagtgaggaag	13	7	16	5	1	0	5	0	5	0	0	0	6	0	6	1	4	2	1	1	4	3	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.848G>A	p.Gly283Asp	p.G283D	ENST00000332249	1/1	322	304	18	279	279	0	strelka-varscan-mutect	OR52L1,missense_variant,p.Gly283Asp,ENST00000332249,NM_001005173.3;	T	ENST00000332249	Transcript	missense_variant	903/1094	848/990	283/329	G/D	gGt/gAt		1		-1	OR52L1	HGNC	HGNC:14785	protein_coding	YES	CCDS44529.1	ENSP00000330338	Q8NGH7		UPI000004B20D	NM_001005173.3	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF96,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	12	5986083	5986083	C	T	1	0	0	0	0	1	0	0	0	11198	507	18	3		3	OR52L1	11	5986083	Missense_Mutation	SNP	C	C3L-00144_TP	38196	5986083	129100539	1046	5325											
OR56A1	0	.	GRCh38	chr11	6027279	6027279	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacaaattgattagtgatGatggatgggtaccgcagtgg	11	10	14	6	1	0	3	0	3	0	0	0	4	0	4	2	3	1	2	2	3	3	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.426C>A	p.=	p.I142I	ENST00000316650	1/1	301	230	71	304	304	0	strelka-varscan-mutect	OR56A1,synonymous_variant,p.=,ENST00000316650,NM_001001917.2;	T	ENST00000316650	Transcript	synonymous_variant	463/1071	426/957	142/318	I	atC/atA		1		-1	OR56A1	HGNC	HGNC:14781	protein_coding	YES	CCDS31405.1	ENSP00000321246	Q8NGH5	A0A126GVB5	UPI000013FE4B	NM_001001917.2			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24248:SF62,hmmpanther:PTHR24248,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00245																	LOW	1	SNV				1										PASS		.	.												T	2	4	12	6027279	6027279	G	T	1	0	0	0	0	0	0	0	1	11205	1280	45	2		2	OR56A1	11	6027279	Silent	SNP	G	C3L-00144_TP	41196	6027279	129059343	1047	5326											
CNGA4	0	.	GRCh38	chr11	6240133	6240133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcgctacgttcgcacctgGagtttcttcttggacctggc	5	13	11	12	3	2	0	0	0	2	0	4	2	2	2	2	3	1	4	2	3	1	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.339G>T	p.Trp113Cys	p.W113C	ENST00000379936	4/6	136	118	18	119	119	0	strelka-mutect	CNGA4,missense_variant,p.Trp113Cys,ENST00000379936,NM_001037329.3;CNGA4,intron_variant,,ENST00000533426,;	T	ENST00000379936	Transcript	missense_variant	454/1863	339/1728	113/575	W/C	tgG/tgT		1		1	CNGA4	HGNC	HGNC:2152	protein_coding	YES	CCDS31408.1	ENSP00000369268	Q8IV77		UPI000004C7EC	NM_001037329.3	tolerated(0.18)		4/6		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF388,Superfamily_domains:SSF81324																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	6240133	6240133	G	T	1	0	0	0	0	1	0	0	0	3379	1183	41	2		2	CNGA4	11	6240133	Missense_Mutation	SNP	G	C3L-00144_TP	212854	6240133	128846489	1048	5327											
CNGA4	0	.	GRCh38	chr11	6240193	6240193	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggtctacgtgcggctgggCccgcacacacccaccctgag	6	6	13	16	3	1	1	0	1	1	0	1	1	1	1	3	3	2	2	3	3	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.399C>T	p.=	p.G133G	ENST00000379936	4/6	259	232	27	175	175	0	strelka-varscan-mutect	CNGA4,synonymous_variant,p.=,ENST00000379936,NM_001037329.3;CNGA4,intron_variant,,ENST00000533426,;	T	ENST00000379936	Transcript	synonymous_variant	514/1863	399/1728	133/575	G	ggC/ggT		1		1	CNGA4	HGNC	HGNC:2152	protein_coding	YES	CCDS31408.1	ENSP00000369268	Q8IV77		UPI000004C7EC	NM_001037329.3			4/6		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF388,Superfamily_domains:SSF81324																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	12	6240193	6240193	C	T	1	0	0	0	0	0	0	0	1	3379	726	26	3		3	CNGA4	11	6240193	Silent	SNP	C	C3L-00144_TP	60	6240193	128846429	1049	5328											
SMPD1	0	.	GRCh38	chr11	6390734	6390734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcgctggcgctggcgctgGcgctggctctgtctgactct	1	11	16	13	4	3	1	0	1	3	0	3	1	3	1	0	5	0	5	0	5	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.136G>T	p.Ala46Ser	p.A46S	ENST00000342245	1/6	192	169	23	207	207	0	varscan-mutect	SMPD1,missense_variant,p.Ala46Ser,ENST00000342245,NM_001318087.1,NM_000543.4;SMPD1,missense_variant,p.Ala46Ser,ENST00000527275,NM_001007593.2;SMPD1,intron_variant,,ENST00000530395,;APBB1,downstream_gene_variant,,ENST00000389906,;APBB1,downstream_gene_variant,,ENST00000609360,NM_001164.4;APBB1,downstream_gene_variant,,ENST00000299402,;APBB1,downstream_gene_variant,,ENST00000311051,NM_145689.2;APBB1,downstream_gene_variant,,ENST00000610474,;APBB1,downstream_gene_variant,,ENST00000608394,NM_001257321.2;APBB1,downstream_gene_variant,,ENST00000618005,;APBB1,downstream_gene_variant,,ENST00000608704,NM_001257320.2;APBB1,downstream_gene_variant,,ENST00000608645,NM_001257326.2;APBB1,downstream_gene_variant,,ENST00000608655,NM_001257319.2;APBB1,downstream_gene_variant,,ENST00000621678,;APBB1,downstream_gene_variant,,ENST00000530885,NM_001257323.2;APBB1,downstream_gene_variant,,ENST00000609331,NM_001257325.2;APBB1,downstream_gene_variant,,ENST00000529519,;SMPD1,upstream_gene_variant,,ENST00000526280,;SMPD1,non_coding_transcript_exon_variant,,ENST00000533196,;APBB1,downstream_gene_variant,,ENST00000526240,;SMPD1,missense_variant,p.Ala46Ser,ENST00000534405,NM_001318088.1;SMPD1,missense_variant,p.Ala46Ser,ENST00000533123,;SMPD1,missense_variant,p.Ala46Ser,ENST00000531303,;APBB1,downstream_gene_variant,,ENST00000608435,;APBB1,downstream_gene_variant,,ENST00000524626,;SMPD1,upstream_gene_variant,,ENST00000531336,;SMPD1,upstream_gene_variant,,ENST00000532367,;	T	ENST00000342245	Transcript	missense_variant	304/2452	136/1896	46/631	A/S	Gcg/Tcg		1		1	SMPD1	HGNC	HGNC:11120	protein_coding	YES	CCDS44531.1	ENSP00000340409	P17405		UPI000013E592	NM_001318087.1,NM_000543.4	tolerated_low_confidence(0.23)		1/6		PIRSF_domain:PIRSF000948,hmmpanther:PTHR10340,hmmpanther:PTHR10340:SF34,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	6390734	6390734	G	T	1	0	0	0	0	1	0	0	0	15125	1203	42	2		2	SMPD1	11	6390734	Missense_Mutation	SNP	G	C3L-00144_TP	150541	6390734	128695888	1050	5329											
DCHS1	0	.	GRCh38	chr11	6622564	6622564	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatctcatcatcctctgcagCctctgctgatcctcggccac	6	11	7	17	1	4	1	2	1	3	0	8	2	6	1	4	1	3	2	4	1	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.9112G>C	p.Ala3038Pro	p.A3038P	ENST00000299441	21/21	76	68	8	82	82	0	strelka-varscan-mutect	DCHS1,missense_variant,p.Ala3038Pro,ENST00000299441,NM_003737.3;TPP1,upstream_gene_variant,,ENST00000299427,NM_000391.3;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000436873,;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000428886,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000528917,;	G	ENST00000299441	Transcript	missense_variant	9524/10765	9112/9897	3038/3298	A/P	Gct/Cct		1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3	deleterious(0.01)		21/21		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF335																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	6622564	6622564	C	G	1	0	0	0	0	1	0	0	0	4090	739	26	4		4	DCHS1	11	6622564	Missense_Mutation	SNP	C	C3L-00144_TP	231830	6622564	128464058	1051	5330											
DCHS1	0	.	GRCh38	chr11	6626928	6626928	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagatcagtggccacaatGaagaggacacgatctcgggg	13	5	13	10	2	2	3	1	1	1	2	3	5	2	4	2	4	0	0	2	4	3	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.6111C>T	p.=	p.F2037F	ENST00000299441	14/21	323	301	22	276	276	0	strelka-varscan-mutect	DCHS1,synonymous_variant,p.=,ENST00000299441,NM_003737.3;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;RP11-732A19.6,upstream_gene_variant,,ENST00000526633,;	A	ENST00000299441	Transcript	synonymous_variant	6523/10765	6111/9897	2037/3298	F	ttC/ttT		1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3			14/21		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF335,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	6626928	6626928	G	A	1	0	0	0	0	0	0	0	1	4090	1281	45	3		3	DCHS1	11	6626928	Silent	SNP	G	C3L-00144_TP	4364	6626928	128459694	1052	5331											
OLFML1	0	.	GRCh38	chr11	7485882	7485882	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgttttgcaggatgatgGtggcccttcgaggagcttct	5	14	15	7	1	1	1	0	1	1	0	2	4	1	3	1	5	2	3	1	5	0	4	rs776575251		C3L-00144_TP	C3L-00144_NB	G	G																c.7G>C	p.Val3Leu	p.V3L	ENST00000329293	1/3	163	131	32	122	122	0	strelka-varscan-mutect	OLFML1,missense_variant,p.Val3Leu,ENST00000329293,NM_198474.3;OLFML1,missense_variant,p.Val3Leu,ENST00000530135,;OLFML1,missense_variant,p.Val3Leu,ENST00000528758,;OLFML1,missense_variant,p.Val3Leu,ENST00000534244,;CTD-2516F10.2,intron_variant,,ENST00000622955,;CTD-2516F10.2,intron_variant,,ENST00000530201,;OLFML1,non_coding_transcript_exon_variant,,ENST00000528308,;	C	ENST00000329293	Transcript	missense_variant	401/2792	7/1209	3/402	V/L	Gtg/Ctg	rs776575251	1		1	OLFML1	HGNC	HGNC:24473	protein_coding	YES	CCDS7779.1	ENSP00000332511	Q6UWY5		UPI0000161991	NM_198474.3	tolerated_low_confidence(0.77)		1/3		hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF13,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs776575251	.												C	3	2	12	7485882	7485882	G	C	1	0	0	0	0	1	0	0	0	10931	1261	44	4		4	OLFML1	11	7485882	Missense_Mutation	SNP	G	C3L-00144_TP	858954	7485882	127600740	1053	5332											
LMO1	0	.	GRCh38	chr11	8227046	8227046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcccgcatcaccatctcGaaggctgggatcagcttgct	7	8	12	14	3	3	0	2	0	1	0	4	2	3	1	2	3	2	4	2	3	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.294C>A	p.Phe98Leu	p.F98L	ENST00000335790	3/4	139	132	7	118	117	1	strelka-varscan	LMO1,missense_variant,p.Phe98Leu,ENST00000335790,NM_002315.2;LMO1,missense_variant,p.Phe97Leu,ENST00000428101,NM_001270428.1;LMO1,missense_variant,p.Phe87Leu,ENST00000534484,;LMO1,non_coding_transcript_exon_variant,,ENST00000524379,;	T	ENST00000335790	Transcript	missense_variant	790/1279	294/471	98/156	F/L	ttC/ttA		1		-1	LMO1	HGNC	HGNC:6641	protein_coding	YES	CCDS44534.1	ENSP00000338207	P25800		UPI0000133883	NM_002315.2	tolerated(0.12)		3/4		PROSITE_profiles:PS50023,hmmpanther:PTHR24208,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	8227046	8227046	G	T	1	0	0	0	0	1	0	0	0	8777	1049	37	1		1	LMO1	11	8227046	Missense_Mutation	SNP	G	C3L-00144_TP	741164	8227046	126859576	1054	5333											
ADM	0	.	GRCh38	chr11	10305958	10305958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttttccaggtggaataaGtgggctctgagtcgtgggaa	8	12	16	5	1	1	1	0	1	1	0	3	3	2	3	1	4	0	2	1	4	3	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.108G>T	p.Lys36Asn	p.K36N	ENST00000528655	2/3	178	164	14	157	157	0	strelka-varscan-mutect	ADM,missense_variant,p.Lys36Asn,ENST00000528655,;ADM,missense_variant,p.Lys36Asn,ENST00000278175,NM_001124.2;ADM,missense_variant,p.Lys36Asn,ENST00000525063,;ADM,missense_variant,p.Lys36Asn,ENST00000526492,;ADM,missense_variant,p.Lys36Asn,ENST00000528544,;ADM,missense_variant,p.Lys36Asn,ENST00000524948,;ADM,5_prime_UTR_variant,,ENST00000530439,;ADM,5_prime_UTR_variant,,ENST00000534464,;RP11-351I24.1,upstream_gene_variant,,ENST00000526906,;AMPD3,upstream_gene_variant,,ENST00000527261,;	T	ENST00000528655	Transcript	missense_variant	725/1889	108/558	36/185	K/N	aaG/aaT		1		1	ADM	HGNC	HGNC:259	protein_coding	YES	CCDS7801.1	ENSP00000436607	P35318		UPI00001255F0		tolerated(0.1)		2/3		hmmpanther:PTHR23414:SF3,hmmpanther:PTHR23414,Pfam_domain:PF00214,Prints_domain:PR00801																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	10305958	10305958	G	T	1	0	0	0	0	1	0	0	0	395	1020	36	2		2	ADM	11	10305958	Missense_Mutation	SNP	G	C3L-00144_TP	2078912	10305958	124780664	1055	5334											
CTR9	0	.	GRCh38	chr11	10770255	10770255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataagcaccaaaacactgaaGttgtactctatttggcccgg	13	10	8	10	1	1	1	0	1	1	0	1	1	1	1	2	2	3	3	2	2	6	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2155G>T	p.Val719Phe	p.V719F	ENST00000361367	17/25	131	101	30	130	130	0	strelka-varscan-mutect	CTR9,missense_variant,p.Val719Phe,ENST00000361367,NM_014633.4;CTR9,downstream_gene_variant,,ENST00000529355,;CTR9,upstream_gene_variant,,ENST00000529898,;CTR9,downstream_gene_variant,,ENST00000526874,;	T	ENST00000361367	Transcript	missense_variant	2581/4586	2155/3522	719/1173	V/F	Gtt/Ttt		1		1	CTR9	HGNC	HGNC:16850	protein_coding	YES	CCDS7805.1	ENSP00000355013	Q6PD62		UPI000006F32A	NM_014633.4	deleterious(0.01)		17/25		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR14027,hmmpanther:PTHR14027:SF2,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	10770255	10770255	G	T	1	0	0	0	0	1	0	0	0	3833	1029	36	2		2	CTR9	11	10770255	Missense_Mutation	SNP	G	C3L-00144_TP	464297	10770255	124316367	1056	5335											
PTH	0	.	GRCh38	chr11	13492451	13492451	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcacatcagctttgtctGcctctccaagacttttttca	8	16	4	13	0	5	1	3	0	2	1	6	1	5	1	2	0	2	1	2	0	1	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.302C>A	p.Ala101Glu	p.A101E	ENST00000282091	3/3	233	211	22	200	200	0	strelka-varscan-mutect	PTH,missense_variant,p.Ala101Glu,ENST00000282091,NM_000315.2;PTH,missense_variant,p.Ala101Glu,ENST00000529816,NM_001316352.1;RP11-15D14.2,downstream_gene_variant,,ENST00000532318,;	T	ENST00000282091	Transcript	missense_variant	417/813	302/348	101/115	A/E	gCa/gAa		1		-1	PTH	HGNC	HGNC:9606	protein_coding	YES	CCDS7812.1	ENSP00000282091	P01270		UPI000013290A	NM_000315.2	tolerated(0.26)		3/3		PIRSF_domain:PIRSF001832,hmmpanther:PTHR10541,hmmpanther:PTHR10541:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	13492451	13492451	G	T	1	0	0	0	0	1	0	0	0	12913	1319	46	2		2	PTH	11	13492451	Missense_Mutation	SNP	G	C3L-00144_TP	2722196	13492451	121594171	1057	5336											
RRAS2	0	.	GRCh38	chr11	14358804	14358804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccgacttgcccacgccgcCcccgccgaccaccacgagcc	6	2	9	24	7	0	0	0	0	0	0	0	3	0	0	9	0	2	0	9	0	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.67G>T	p.Gly23Cys	p.G23C	ENST00000256196	1/6	216	170	46	176	176	0	strelka-varscan-mutect	RRAS2,missense_variant,p.Gly23Cys,ENST00000256196,NM_012250.5;RRAS2,intron_variant,,ENST00000537760,NM_001177314.1;RRAS2,intron_variant,,ENST00000529237,;RRAS2,upstream_gene_variant,,ENST00000534746,;RRAS2,upstream_gene_variant,,ENST00000532814,NM_001177315.1;RRAS2,upstream_gene_variant,,ENST00000526063,NM_001102669.2;RRAS2,missense_variant,p.Gly23Cys,ENST00000532950,;RRAS2,missense_variant,p.Gly23Cys,ENST00000526717,;	A	ENST00000256196	Transcript	missense_variant	381/1516	67/615	23/204	G/C	Ggc/Tgc		1		-1	RRAS2	HGNC	HGNC:17271	protein_coding	YES	CCDS7814.1	ENSP00000256196	P62070		UPI0000029C08	NM_012250.5	deleterious(0)		1/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF245,hmmpanther:PTHR24070,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	14358804	14358804	C	A	1	0	0	0	0	1	0	0	0	13931	623	22	2		2	RRAS2	11	14358804	Missense_Mutation	SNP	C	C3L-00144_TP	866353	14358804	120727818	1058	5337											
MYOD1	0	.	GRCh38	chr11	17720958	17720958	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaactgctacgaaggcgcCtactacaacgaggcgcccag	11	4	12	14	5	0	0	0	0	0	0	0	3	0	1	2	3	6	1	2	3	6	3	rs746400738		C3L-00144_TP	C3L-00144_NB	C	C																c.687C>A	p.=	p.A229A	ENST00000250003	2/3	137	100	37	131	131	0	strelka-varscan-mutect	MYOD1,synonymous_variant,p.=,ENST00000250003,NM_002478.4;	A	ENST00000250003	Transcript	synonymous_variant	902/1801	687/963	229/320	A	gcC/gcA	rs746400738	1		1	MYOD1	HGNC	HGNC:7611	protein_coding	YES	CCDS7826.1	ENSP00000250003	P15172		UPI000007280C	NM_002478.4			2/3		Pfam_domain:PF12232,hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF2																	LOW	1	SNV	1			1										PASS		rs746400738	.												A	2	1	12	17720958	17720958	C	A	1	0	0	0	0	0	0	0	1	10089	668	24	2		2	MYOD1	11	17720958	Silent	SNP	C	C3L-00144_TP	3362154	17720958	117365664	1059	5338											
HTATIP2	0	.	GRCh38	chr11	20383178	20383178	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggccatccatgacctgggGaaagcgcatggctctctcaa	11	7	11	12	1	2	1	1	1	1	0	4	2	3	2	3	4	1	2	3	4	3	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.804G>T	p.=	p.G268G	ENST00000419348	6/6	119	103	16	130	129	1	strelka-varscan-mutect	HTATIP2,synonymous_variant,p.=,ENST00000451739,NM_001098522.1;HTATIP2,synonymous_variant,p.=,ENST00000419348,NM_001098520.1;HTATIP2,synonymous_variant,p.=,ENST00000531058,;HTATIP2,synonymous_variant,p.=,ENST00000443524,NM_001098521.1;HTATIP2,synonymous_variant,p.=,ENST00000421577,NM_006410.4;PRMT3,upstream_gene_variant,,ENST00000331079,NM_001145167.1,NM_005788.3;PRMT3,upstream_gene_variant,,ENST00000437750,NM_001145166.1;HTATIP2,non_coding_transcript_exon_variant,,ENST00000533914,;PRMT3,upstream_gene_variant,,ENST00000330796,;PRMT3,upstream_gene_variant,,ENST00000525188,;PRMT3,upstream_gene_variant,,ENST00000526583,;	T	ENST00000419348	Transcript	synonymous_variant	873/1477	804/831	268/276	G	ggG/ggT		1		1	HTATIP2	HGNC	HGNC:16637	protein_coding	YES	CCDS44553.1	ENSP00000392985	Q9BUP3		UPI0001536775	NM_001098520.1			6/6		hmmpanther:PTHR14097:SF7,hmmpanther:PTHR14097																	LOW		SNV	2			1										PASS		.	.												T	2	4	12	20383178	20383178	G	T	1	0	0	0	0	0	0	0	1	7328	1161	41	2		2	HTATIP2	11	20383178	Silent	SNP	G	C3L-00144_TP	2662220	20383178	114703444	1060	5339											
ANO5	0	.	GRCh38	chr11	22227450	22227450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctataagctatgtgcttgGacctgtaagactcccactga	10	12	8	11	0	0	2	0	1	0	1	2	3	2	3	3	1	2	3	3	1	4	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.512G>T	p.Gly171Val	p.G171V	ENST00000324559	7/22	320	296	24	299	297	2	strelka-varscan-mutect	ANO5,missense_variant,p.Gly171Val,ENST00000324559,NM_001142649.1,NM_213599.2;	T	ENST00000324559	Transcript	missense_variant	829/6651	512/2742	171/913	G/V	gGa/gTa		1		1	ANO5	HGNC	HGNC:27337	protein_coding	YES	CCDS31444.1	ENSP00000315371	Q75V66		UPI000035B19B	NM_001142649.1,NM_213599.2	tolerated(0.12)		7/22		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF23,Pfam_domain:PF16178																	MODERATE	1	SNV	1			1										PASS		rs977056246	.												T	3	4	12	22227450	22227450	G	T	1	0	0	0	0	1	0	0	0	807	1174	41	2		2	ANO5	11	22227450	Missense_Mutation	SNP	G	C3L-00144_TP	1844272	22227450	112859172	1061	5340											
DCDC1	0	.	GRCh38	chr11	30906626	30906626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagaggaatggaacccctgGaagcaattgtttcagtcctt	12	10	10	9	0	1	1	1	0	0	1	2	4	2	4	3	3	2	2	3	3	4	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1339C>A	p.Pro447Thr	p.P447T	ENST00000406071	11/20	265	210	55	228	227	1	strelka-varscan-mutect	DCDC1,missense_variant,p.Pro1340Thr,ENST00000597505,;DCDC1,missense_variant,p.Pro447Thr,ENST00000406071,NM_020869.3;DCDC1,missense_variant,p.Pro28Thr,ENST00000303697,;DCDC1,missense_variant,p.Pro375Thr,ENST00000444572,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;DCDC1,non_coding_transcript_exon_variant,,ENST00000429306,;	T	ENST00000406071	Transcript	missense_variant	1655/4758	1339/2673	447/890	P/T	Cca/Aca		1		-1	DCDC1	HGNC	HGNC:20625	protein_coding	YES	CCDS73270.1	ENSP00000385936		B6ZDN3	UPI0001FB41A5	NM_020869.3	tolerated(0.09)		11/20		hmmpanther:PTHR14958:SF27,hmmpanther:PTHR14958																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	30906626	30906626	G	T	1	0	0	0	0	1	0	0	0	4086	1174	41	2		2	DCDC1	11	30906626	Missense_Mutation	SNP	G	C3L-00144_TP	8679176	30906626	104179996	1062	5341											
EIF3M	0	.	GRCh38	chr11	32587045	32587045	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttatctgaaatctaaaGgagctgagatttcagaagag	14	11	11	5	0	3	4	1	2	2	3	3	6	3	5	0	1	2	2	0	1	5	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.76G>T	p.Gly26Ter	p.G26*	ENST00000531120	2/11	125	112	13	95	95	0	strelka-varscan-mutect	EIF3M,stop_gained,p.Gly26Ter,ENST00000531120,NM_006360.4;EIF3M,5_prime_UTR_variant,,ENST00000323213,;EIF3M,5_prime_UTR_variant,,ENST00000533439,;EIF3M,intron_variant,,ENST00000524896,NM_001307929.1;EIF3M,upstream_gene_variant,,ENST00000526267,;EIF3M,non_coding_transcript_exon_variant,,ENST00000532054,;EIF3M,splice_acceptor_variant,,ENST00000532444,;EIF3M,stop_gained,p.Gly26Ter,ENST00000531921,;EIF3M,stop_gained,p.Gly26Ter,ENST00000524711,;EIF3M,non_coding_transcript_exon_variant,,ENST00000530026,;EIF3M,non_coding_transcript_exon_variant,,ENST00000531186,;EIF3M,intron_variant,,ENST00000525782,;HNRNPA3P9,downstream_gene_variant,,ENST00000604913,;	T	ENST00000531120	Transcript	stop_gained	139/5051	76/1125	26/374	G/*	Gga/Tga		1		1	EIF3M	HGNC	HGNC:24460	protein_coding	YES	CCDS7880.1	ENSP00000436049	Q7L2H7		UPI0000070F8A	NM_006360.4			2/11		HAMAP:MF_03012,hmmpanther:PTHR15350:SF2,hmmpanther:PTHR15350																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	32587045	32587045	G	T	1	0	0	0	0	0	1	0	0	4857	1001	35	2		2	EIF3M	11	32587045	Nonsense_Mutation	SNP	G	C3L-00144_TP	1680419	32587045	102499577	1063	5342											
QSER1	0	.	GRCh38	chr11	32933356	32933356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccaatgcaagagttacagGtgttgcagccacaagcatct	12	10	9	10	0	1	1	0	0	1	1	2	1	2	1	2	1	5	5	2	1	4	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1711G>T	p.Val571Leu	p.V571L	ENST00000399302	4/13	124	91	33	108	108	0	strelka-varscan-mutect	QSER1,missense_variant,p.Val571Leu,ENST00000399302,NM_001076786.2;QSER1,missense_variant,p.Val332Leu,ENST00000527788,;QSER1,upstream_gene_variant,,ENST00000524678,;QSER1,downstream_gene_variant,,ENST00000528155,;QSER1,downstream_gene_variant,,ENST00000527250,;	T	ENST00000399302	Transcript	missense_variant	2046/9335	1711/5208	571/1735	V/L	Gtg/Ttg		1		1	QSER1	HGNC	HGNC:26154	protein_coding	YES	CCDS41631.1	ENSP00000382241	Q2KHR3		UPI0000E467AF	NM_001076786.2	deleterious(0.01)		4/13		hmmpanther:PTHR14709:SF2,hmmpanther:PTHR14709																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	32933356	32933356	G	T	1	0	0	0	0	1	0	0	0	13037	1261	44	2		2	QSER1	11	32933356	Missense_Mutation	SNP	G	C3L-00144_TP	346311	32933356	102153266	1064	5343											
LRRC4C	0	.	GRCh38	chr11	40114401	40114401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgtacattgtctttaGagttcattcggatcaataac	10	17	6	8	1	4	1	2	0	2	1	6	2	4	2	0	1	2	2	0	1	4	8	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1892C>A	p.Ser631Tyr	p.S631Y	ENST00000278198	2/2	77	73	4	70	70	0	strelka-mutect	LRRC4C,missense_variant,p.Ser631Tyr,ENST00000278198,;LRRC4C,missense_variant,p.Ser631Tyr,ENST00000527150,;LRRC4C,missense_variant,p.Ser631Tyr,ENST00000530763,NM_020929.2;LRRC4C,missense_variant,p.Ser631Tyr,ENST00000528697,NM_001258419.1;LRRC4C,missense_variant,p.Ser631Tyr,ENST00000619527,;LRRC4C,downstream_gene_variant,,ENST00000533474,;RP11-454H19.2,upstream_gene_variant,,ENST00000624239,;	T	ENST00000278198	Transcript	missense_variant	3856/4054	1892/1923	631/640	S/Y	tCt/tAt		1		-1	LRRC4C	HGNC	HGNC:29317	protein_coding	YES	CCDS31464.1	ENSP00000278198	Q9HCJ2		UPI000000D9A7		deleterious_low_confidence(0)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	40114401	40114401	G	T	1	0	0	0	0	1	0	0	0	8903	942	33	2		2	LRRC4C	11	40114401	Missense_Mutation	SNP	G	C3L-00144_TP	7181045	40114401	94972221	1065	5344											
LRP4	0	.	GRCh38	chr11	46873579	46873579	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtctccatgttgctgccgTtcaggtctgctcgccttggg	2	14	12	13	2	3	0	1	0	2	0	5	0	3	0	3	2	3	4	3	2	0	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.4244A>T	p.Asn1415Ile	p.N1415I	ENST00000378623	29/38	69	48	21	75	75	0	strelka-varscan-mutect	LRP4,missense_variant,p.Asn1415Ile,ENST00000378623,NM_002334.3;LRP4-AS1,non_coding_transcript_exon_variant,,ENST00000502049,;LRP4-AS1,downstream_gene_variant,,ENST00000531719,;LRP4,non_coding_transcript_exon_variant,,ENST00000527656,;	A	ENST00000378623	Transcript	missense_variant	4487/8076	4244/5718	1415/1905	N/I	aAc/aTc		1		-1	LRP4	HGNC	HGNC:6696	protein_coding	YES	CCDS31478.1	ENSP00000367888	O75096		UPI0000D625E9	NM_002334.3	deleterious(0)		29/38		PROSITE_profiles:PS51120,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	46873579	46873579	T	A	1	0	0	0	0	1	0	0	0	8854	1725	60	4		4	LRP4	11	46873579	Missense_Mutation	SNP	T	C3L-00144_TP	6759178	46873579	88213043	1066	5345											
OR4C3	0	.	GRCh38	chr11	48325054	48325054	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatatcacagaatttttCatgctggggctctcacagaa	14	11	7	9	0	3	2	3	0	1	2	4	2	3	2	0	2	1	2	0	2	5	3	rs267602915		C3L-00144_TP	C3L-00144_NB	C	C																c.114C>A	p.Phe38Leu	p.F38L	ENST00000319856	1/1	223	167	56	179	179	0	strelka-varscan-mutect	OR4C3,missense_variant,p.Phe38Leu,ENST00000319856,NM_001004702.1;OR4C3,upstream_gene_variant,,ENST00000611380,;	A	ENST00000319856	Transcript	missense_variant	135/1036	114/990	38/329	F/L	ttC/ttA	rs267602915,COSM1703901,COSM5496575	1		1	OR4C3	HGNC	HGNC:14697	protein_coding	YES	CCDS31489.1	ENSP00000321419	Q8NH37	A0A126GVR6	UPI0000061EA2	NM_001004702.1	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF162,Superfamily_domains:SSF81321											0,1,1						MODERATE	1	SNV			0,1,1	1										PASS		rs267602915	.												A	3	1	12	48325054	48325054	C	A	1	0	0	0	0	1	0	0	0	11126	825	29	2		2	OR4C3	11	48325054	Missense_Mutation	SNP	C	C3L-00144_TP	1451475	48325054	86761568	1067	5346											
TRIM49B	0	.	GRCh38	chr11	49037628	49037628	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggggtgctcagactttcaCctcgggcaaatattactggg	9	11	12	9	1	2	1	2	0	0	1	3	1	2	1	1	4	2	2	1	4	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1010C>A	p.Thr337Asn	p.T337N	ENST00000622138	8/8	505	429	76	441	440	1	strelka-varscan-mutect	TRIM49B,missense_variant,p.Thr337Asn,ENST00000622138,;TRIM49B,missense_variant,p.Thr337Asn,ENST00000332682,NM_001206626.1;	A	ENST00000622138	Transcript	missense_variant	1339/2162	1010/1359	337/452	T/N	aCc/aAc		1		1	TRIM49B	HGNC	HGNC:42955	protein_coding	YES	CCDS55762.1	ENSP00000481457	A6NDI0		UPI000013EEA1		tolerated(0.07)		8/8		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,Superfamily_domains:SSF49899,Prints_domain:PR01407																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	49037628	49037628	C	A	1	0	0	0	0	1	0	0	0	17015	507	18	2		2	TRIM49B	11	49037628	Missense_Mutation	SNP	C	C3L-00144_TP	712574	49037628	86048994	1068	5347											
FOLH1	0	.	GRCh38	chr11	49169228	49169228	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcattaatataagccaCgccacgctcttgaaggagtc	12	9	9	11	2	2	1	1	1	1	0	3	2	2	2	2	1	2	2	2	1	4	4	rs375484734		C3L-00144_TP	C3L-00144_NB	C	C																c.1339G>T	p.Val447Leu	p.V447L	ENST00000256999	12/19	313	263	50	200	199	1	strelka-varscan-mutect	FOLH1,missense_variant,p.Val432Leu,ENST00000340334,NM_001193471.1;FOLH1,missense_variant,p.Val447Leu,ENST00000256999,NM_004476.1;FOLH1,missense_variant,p.Val447Leu,ENST00000356696,NM_001014986.1;FOLH1,missense_variant,p.Val139Leu,ENST00000343844,NM_001193473.1;FOLH1,missense_variant,p.Val432Leu,ENST00000533034,NM_001193472.1;FOLH1,non_coding_transcript_exon_variant,,ENST00000525629,;FOLH1,3_prime_UTR_variant,,ENST00000525826,;FOLH1,non_coding_transcript_exon_variant,,ENST00000458311,;	A	ENST00000256999	Transcript	missense_variant	1600/2635	1339/2253	447/750	V/L	Gtg/Ttg	rs375484734	1		-1	FOLH1	HGNC	HGNC:3788	protein_coding	YES	CCDS7946.1	ENSP00000256999	Q04609		UPI0000000A01	NM_004476.1	deleterious(0)		12/19		Gene3D:3.40.630.10,Pfam_domain:PF04389,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF36,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		rs375484734	.												A	3	1	12	49169228	49169228	C	A	1	0	0	0	0	1	0	0	0	5840	536	19	1		1	FOLH1	11	49169228	Missense_Mutation	SNP	C	C3L-00144_TP	131600	49169228	85917394	1069	5348											
FOLH1	0	.	GRCh38	chr11	49186651	49186651	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttttaccttaccttatttCctctgaaaactttcccatat	10	19	1	11	0	1	1	0	1	1	0	3	1	3	1	4	0	3	0	4	0	6	8			C3L-00144_TP	C3L-00144_NB	C	C																c.632G>T	p.Gly211Val	p.G211V	ENST00000256999	5/19	135	127	8	104	104	0	varscan-mutect	FOLH1,missense_variant,p.Gly196Val,ENST00000340334,NM_001193471.1;FOLH1,missense_variant,p.Gly211Val,ENST00000256999,NM_004476.1;FOLH1,missense_variant,p.Gly211Val,ENST00000356696,NM_001014986.1;FOLH1,missense_variant,p.Gly196Val,ENST00000533034,NM_001193472.1;FOLH1,5_prime_UTR_variant,,ENST00000343844,NM_001193473.1;FOLH1,3_prime_UTR_variant,,ENST00000525826,;FOLH1,non_coding_transcript_exon_variant,,ENST00000526226,;FOLH1,upstream_gene_variant,,ENST00000458311,;	A	ENST00000256999	Transcript	missense_variant	893/2635	632/2253	211/750	G/V	gGa/gTa	COSM1718900,COSM4033409	1		-1	FOLH1	HGNC	HGNC:3788	protein_coding	YES	CCDS7946.1	ENSP00000256999	Q04609		UPI0000000A01	NM_004476.1	deleterious(0)		5/19		Gene3D:3.50.30.30,Pfam_domain:PF02225,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF36,Superfamily_domains:SSF52025											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	12	49186651	49186651	C	A	1	0	0	0	0	1	0	0	0	5840	855	30	2		2	FOLH1	11	49186651	Missense_Mutation	SNP	C	C3L-00144_TP	17423	49186651	85899971	1070	5349											
OR4C46	0	.	GRCh38	chr11	54603126	54603126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgatggcatttttcatCtgggcattcttcaaggtata	8	17	8	8	0	4	1	2	1	2	0	5	1	5	1	1	3	0	3	1	3	3	7	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.873G>T	p.Gln291His	p.Q291H	ENST00000328188	1/1	40	32	8	34	34	0	varscan-mutect	OR4C46,missense_variant,p.Gln291His,ENST00000328188,NM_001004703.1;	A	ENST00000328188	Transcript	missense_variant	873/930	873/930	291/309	Q/H	caG/caT		1		-1	OR4C46	HGNC	HGNC:31271	protein_coding	YES	CCDS73288.1	ENSP00000329056	A6NHA9		UPI000013F6F8	NM_001004703.1	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR26451:SF284,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	12	54603126	54603126	C	A	1	0	0	0	0	1	0	0	0	11127	912	32	2		2	OR4C46	11	54603126	Missense_Mutation	SNP	C	C3L-00144_TP	5416475	54603126	80483496	1071	5350											
OR4S2	0	.	GRCh38	chr11	55651519	55651520	+	Frame_Shift_Ins	INS	-	-	T																															caacagtggtaccattgctcINStggggagttttgttatcttg																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.617dupT	p.Ser208GlufsTer53	p.S208Efs*53	ENST00000312422	1/1	231	200	31	181	181	0	sindel-varindel-pindel	OR4S2,frameshift_variant,p.Ser208GlufsTer53,ENST00000312422,NM_001004059.2;	T	ENST00000312422	Transcript	frameshift_variant	616-617/936	616-617/936	206/311	L/LX	ctg/cTtg		1		1	OR4S2	HGNC	HGNC:15183	protein_coding	YES	CCDS31505.1	ENSP00000310337	Q8NH73	A0A126GVG1	UPI00001D77D2	NM_001004059.2			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF110,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	HIGH	1	insertion		1		1										PASS		.	.												T	7	5	12	55651519	55651519	-	T	1	0	1	1	0	0	0	0	0	11159	912	32	0		0	OR4S2	11	55651519	Frame_Shift_Ins	INS	-	C3L-00144_TP	1048393	55651519	79435103	1072	5351											
OR5D18	0	.	GRCh38	chr11	55819934	55819934	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggatgcgtagtacaatTctttttcttctgtacctttg	7	20	7	7	1	3	0	0	0	3	0	3	1	3	1	1	1	3	3	1	1	5	10	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.305T>A	p.Phe102Tyr	p.F102Y	ENST00000333976	1/1	338	291	47	248	247	1	strelka-varscan-mutect	OR5D18,missense_variant,p.Phe102Tyr,ENST00000333976,NM_001001952.1;	A	ENST00000333976	Transcript	missense_variant	305/942	305/942	102/313	F/Y	tTc/tAc		1		1	OR5D18	HGNC	HGNC:15285	protein_coding	YES	CCDS31510.1	ENSP00000335025	Q8NGL1		UPI0000046197	NM_001001952.1	tolerated(0.18)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	12	55819934	55819934	T	A	1	0	0	0	0	1	0	0	0	11227	1783	62	4		4	OR5D18	11	55819934	Missense_Mutation	SNP	T	C3L-00144_TP	168415	55819934	79266688	1073	5352											
OR5L2	0	.	GRCh38	chr11	55827331	55827331	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcatctatggagtcaCgttgttagccaatctgggca	8	13	9	11	1	4	0	2	0	3	0	5	1	4	1	2	2	1	3	2	2	3	4	rs752225092		C3L-00144_TP	C3L-00144_NB	C	C																c.113C>A	p.Thr38Lys	p.T38K	ENST00000378397	1/1	286	221	65	220	219	1	strelka-varscan-mutect	OR5L2,missense_variant,p.Thr38Lys,ENST00000378397,NM_001004739.1;	A	ENST00000378397	Transcript	missense_variant	113/936	113/936	38/311	T/K	aCg/aAg	rs752225092,COSM543398	1		1	OR5L2	HGNC	HGNC:8351	protein_coding	YES	CCDS31511.1	ENSP00000367650	Q8NGL0		UPI0000041C49	NM_001004739.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF368,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs752225092	.												A	3	1	12	55827331	55827331	C	A	1	0	0	0	0	1	0	0	0	11240	536	19	1		1	OR5L2	11	55827331	Missense_Mutation	SNP	C	C3L-00144_TP	7397	55827331	79259291	1074	5353											
OR8I2	0	.	GRCh38	chr11	56093546	56093546	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctctactgtaacacctaAggcattggtgaatttccaat	11	13	6	11	0	1	1	0	1	1	0	3	1	3	1	3	2	2	2	3	2	5	5	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.239A>T	p.Lys80Met	p.K80M	ENST00000302124	1/1	177	125	52	103	102	1	strelka-varscan-mutect	OR8I2,missense_variant,p.Lys80Met,ENST00000302124,NM_001003750.1;OR8I4P,downstream_gene_variant,,ENST00000526965,;	T	ENST00000302124	Transcript	missense_variant	239/933	239/933	80/310	K/M	aAg/aTg		1		1	OR8I2	HGNC	HGNC:15310	protein_coding	YES	CCDS31517.1	ENSP00000303864	Q8N0Y5		UPI0000041D16	NM_001003750.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	12	56093546	56093546	A	T	1	0	0	0	0	1	0	0	0	11308	72	3	4		4	OR8I2	11	56093546	Missense_Mutation	SNP	A	C3L-00144_TP	266215	56093546	78993076	1075	5354											
OR8H3	0	.	GRCh38	chr11	56123040	56123040	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcctatgtgtccattctctCtaccatcctgaaaattaatt	11	16	3	11	0	2	1	0	1	2	0	6	1	5	1	4	0	1	0	4	0	5	5	rs769797689		C3L-00144_TP	C3L-00144_NB	C	C																c.668C>G	p.Ser223Cys	p.S223C	ENST00000313472	1/1	203	163	40	198	198	0	strelka-varscan-mutect	OR8H3,missense_variant,p.Ser223Cys,ENST00000313472,NM_001005201.1;	G	ENST00000313472	Transcript	missense_variant	668/939	668/939	223/312	S/C	tCt/tGt	rs769797689,COSM1298161,COSM4710288	1		1	OR8H3	HGNC	HGNC:15309	protein_coding	YES	CCDS31519.1	ENSP00000323928	Q8N146		UPI0000041D25	NM_001005201.1	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,Superfamily_domains:SSF81321											0,1,1						MODERATE	1	SNV			0,1,1	1										PASS		rs769797689	.												G	3	3	12	56123040	56123040	C	G	1	0	0	0	0	1	0	0	0	11307	913	32	4		4	OR8H3	11	56123040	Missense_Mutation	SNP	C	C3L-00144_TP	29494	56123040	78963582	1076	5355											
OR5T2	0	.	GRCh38	chr11	56232241	56232241	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaatcacaatggtgtaaaaTattgacactatcatgtcatg	15	12	8	6	0	3	1	3	1	0	0	3	2	3	2	0	2	0	1	0	2	6	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.945A>G	p.Ile315Met	p.I315M	ENST00000313264	1/1	125	103	22	94	94	0	strelka-varscan-mutect	OR5T2,missense_variant,p.Ile315Met,ENST00000313264,NM_001004746.1;	C	ENST00000313264	Transcript	missense_variant	945/1080	945/1080	315/359	I/M	atA/atG		1		-1	OR5T2	HGNC	HGNC:15296	protein_coding	YES	CCDS31523.1	ENSP00000323688	Q8NGG2		UPI0000061E97	NM_001004746.1	deleterious(0.05)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF119,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs1409749509	.												C	3	2	12	56232241	56232241	T	C	1	0	0	0	0	1	0	0	0	11250	1396	49	5		5	OR5T2	11	56232241	Missense_Mutation	SNP	T	C3L-00144_TP	109201	56232241	78854381	1077	5356											
OR5M9	0	.	GRCh38	chr11	56462769	56462769	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtaggagatgaggacCaccgagagggaatatgtgaa	15	6	16	4	1	0	5	0	2	0	3	0	9	0	7	2	3	0	1	2	3	4	2	rs117658855		C3L-00144_TP	C3L-00144_NB	C	C																c.633G>T	p.=	p.V211V	ENST00000279791	1/1	262	217	45	217	217	0	strelka-varscan-mutect	OR5M9,synonymous_variant,p.=,ENST00000279791,NM_001004743.1;	A	ENST00000279791	Transcript	synonymous_variant	633/933	633/933	211/310	V	gtG/gtT	rs117658855	1		-1	OR5M9	HGNC	HGNC:15294	protein_coding	YES	CCDS31531.1	ENSP00000279791	Q8NGP3	A0A126GVK6	UPI0000061E81	NM_001004743.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF13,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs117658855	.												A	2	1	12	56462769	56462769	C	A	1	0	0	0	0	0	0	0	1	11246	581	21	2		2	OR5M9	11	56462769	Silent	SNP	C	C3L-00144_TP	230528	56462769	78623853	1078	5357											
OR9G4	0	.	GRCh38	chr11	56743278	56743278	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaaaatgcaggcggaaTgtattggcagtatgggctat	13	9	12	7	1	0	0	0	0	0	0	0	1	0	1	1	4	1	5	1	4	6	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.534A>G	p.=	p.T178T	ENST00000302957	1/1	308	249	59	237	237	0	strelka-varscan-mutect	OR9G4,synonymous_variant,p.=,ENST00000302957,NM_001005284.1;MIR6128,upstream_gene_variant,,ENST00000615528,;OR9G3P,downstream_gene_variant,,ENST00000525553,;	C	ENST00000302957	Transcript	synonymous_variant	534/985	534/984	178/327	T	acA/acG		1		-1	OR9G4	HGNC	HGNC:15322	protein_coding	YES	CCDS31537.1	ENSP00000307515	Q8NGQ1		UPI00001D77DB	NM_001005284.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF141,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												C	2	2	12	56743278	56743278	T	C	1	0	0	0	0	0	0	0	1	11318	1451	51	5		5	OR9G4	11	56743278	Silent	SNP	T	C3L-00144_TP	280509	56743278	78343344	1079	5358											
APLNR	0	.	GRCh38	chr11	57235949	57235949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgttggggccgggcccCtggctgtgccccgaagagta	5	7	15	14	2	0	1	0	0	0	1	0	2	0	1	6	4	1	3	6	4	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1056G>T	p.Gln352His	p.Q352H	ENST00000606794	1/1	173	134	39	124	123	1	strelka-varscan-mutect	APLNR,missense_variant,p.Gln352His,ENST00000606794,NM_005161.4;APLNR,missense_variant,p.Gln352His,ENST00000611099,;APLNR,missense_variant,p.Gln352His,ENST00000257254,;	A	ENST00000606794	Transcript	missense_variant	1253/3609	1056/1143	352/380	Q/H	caG/caT		1		-1	APLNR	HGNC	HGNC:339	protein_coding	YES	CCDS7950.1	ENSP00000475344	P35414		UPI0000001622	NM_005161.4	tolerated(0.09)		1/1		hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF31,Prints_domain:PR01416,PD061381																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	12	57235949	57235949	C	A	1	0	0	0	0	1	0	0	0	899	680	24	2		2	APLNR	11	57235949	Missense_Mutation	SNP	C	C3L-00144_TP	492671	57235949	77850673	1080	5359											
YPEL4	0	.	GRCh38	chr11	57647001	57647001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgtgtttggccaggtgtGcacggcagtggacacagctg	7	9	15	10	2	0	0	0	0	0	0	1	1	0	1	1	4	2	4	1	4	0	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.107C>A	p.Ala36Glu	p.A36E	ENST00000524669	2/5	82	66	16	58	58	0	strelka-varscan-mutect	YPEL4,missense_variant,p.Ala36Glu,ENST00000524669,;YPEL4,missense_variant,p.Ala36Glu,ENST00000300022,NM_145008.2;YPEL4,missense_variant,p.Ala36Glu,ENST00000534711,;YPEL4,missense_variant,p.Ala36Glu,ENST00000534810,;CLP1,upstream_gene_variant,,ENST00000529773,;AP000662.4,non_coding_transcript_exon_variant,,ENST00000525988,;AP000662.4,intron_variant,,ENST00000530595,;AP000662.4,intron_variant,,ENST00000528466,;AP000662.4,upstream_gene_variant,,ENST00000529908,;AP000662.4,upstream_gene_variant,,ENST00000526243,;YPEL4,non_coding_transcript_exon_variant,,ENST00000529776,;YPEL4,downstream_gene_variant,,ENST00000531442,;YPEL4,downstream_gene_variant,,ENST00000533025,;YPEL4,missense_variant,p.Ala36Glu,ENST00000532314,;YPEL4,non_coding_transcript_exon_variant,,ENST00000528797,;YPEL4,non_coding_transcript_exon_variant,,ENST00000524592,;	T	ENST00000524669	Transcript	missense_variant	2830/4000	107/384	36/127	A/E	gCa/gAa		1		-1	YPEL4	HGNC	HGNC:18328	protein_coding	YES	CCDS7963.1	ENSP00000432648	Q96NS1	A0A024R4Y8	UPI000013BE0B		deleterious(0.02)		2/5		hmmpanther:PTHR13848,hmmpanther:PTHR13848:SF17,Pfam_domain:PF03226																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	57647001	57647001	G	T	1	0	0	0	0	1	0	0	0	18054	1319	46	2		2	YPEL4	11	57647001	Missense_Mutation	SNP	G	C3L-00144_TP	411052	57647001	77439621	1081	5360											
OR9I1	0	.	GRCh38	chr11	58119010	58119010	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagacataggctcctacCaccaggctccagcagagcct	11	5	8	17	0	0	2	0	0	0	2	2	2	2	2	6	2	3	3	6	2	2	2	rs149011210		C3L-00144_TP	C3L-00144_NB	C	C																c.435G>T	p.=	p.V145V	ENST00000302610	1/1	150	119	31	96	96	0	strelka-varscan-mutect	OR9I1,synonymous_variant,p.=,ENST00000302610,NM_001005211.1;OR9Q1,intron_variant,,ENST00000335397,NM_001005212.3;	A	ENST00000302610	Transcript	synonymous_variant	435/945	435/945	145/314	V	gtG/gtT	rs149011210	1		-1	OR9I1	HGNC	HGNC:14718	protein_coding	YES	CCDS31542.1	ENSP00000302606	Q8NGQ6	A0A126GVJ4	UPI0000041B43	NM_001005211.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF232,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs149011210	.												A	2	1	12	58119010	58119010	C	A	1	0	0	0	0	0	0	0	1	11319	581	21	2		2	OR9I1	11	58119010	Silent	SNP	C	C3L-00144_TP	472009	58119010	76967612	1082	5361											
OR10W1	0	.	GRCh38	chr11	58267840	58267840	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgggcaggagggataggCcaggaacacaaattccatca	13	7	12	9	0	2	0	1	0	1	0	3	3	3	3	2	5	1	1	2	5	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.19G>C	p.Ala7Pro	p.A7P	ENST00000395079	1/1	115	85	30	66	66	0	strelka-varscan-mutect	OR10W1,missense_variant,p.Ala7Pro,ENST00000395079,NM_207374.3;	G	ENST00000395079	Transcript	missense_variant	421/1469	19/918	7/305	A/P	Gcc/Ccc		1		-1	OR10W1	HGNC	HGNC:15139	protein_coding	YES	CCDS7968.1	ENSP00000378516	Q8NGF6		UPI000004B229	NM_207374.3	tolerated(0.46)		1/1		hmmpanther:PTHR26452:SF165,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1225180631	.												G	3	3	12	58267840	58267840	C	G	1	0	0	0	0	1	0	0	0	10998	739	26	4		4	OR10W1	11	58267840	Missense_Mutation	SNP	C	C3L-00144_TP	148830	58267840	76818782	1083	5362											
OR5B2	0	.	GRCh38	chr11	58422358	58422358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatttttgccttctcaacaCtttcttgaatgcattctgga	10	17	5	9	0	3	1	1	1	3	0	4	2	3	2	1	1	3	1	1	1	3	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.904G>T	p.Val302Leu	p.V302L	ENST00000302581	1/1	131	94	37	124	123	1	strelka-varscan-mutect	OR5B2,missense_variant,p.Val302Leu,ENST00000302581,NM_001005566.2;	A	ENST00000302581	Transcript	missense_variant	956/1049	904/930	302/309	V/L	Gtg/Ttg		1		-1	OR5B2	HGNC	HGNC:8323	protein_coding	YES	CCDS31550.1	ENSP00000303076	Q96R09		UPI000004B227	NM_001005566.2	tolerated_low_confidence(0.12)		1/1		hmmpanther:PTHR26452:SF3,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	12	58422358	58422358	C	A	1	0	0	0	0	1	0	0	0	11221	565	20	2		2	OR5B2	11	58422358	Missense_Mutation	SNP	C	C3L-00144_TP	154518	58422358	76664264	1084	5363											
FAM111B	0	.	GRCh38	chr11	59124381	59124382	+	Frame_Shift_Del	DEL	GT	GT	-																															ctccagaaaattagaccgtaGtgtgtttacagcatatggta																								novel		C3L-00144_TP	C3L-00144_NB	GT	GT																c.288_289delGT	p.Phe97TyrfsTer5	p.F97Yfs*5	ENST00000343597	4/4	194	180	14	140	140	0	sindel-pindel	FAM111B,frameshift_variant,p.Phe97TyrfsTer5,ENST00000343597,NM_198947.3;FAM111B,frameshift_variant,p.Phe97TyrfsTer5,ENST00000620384,;FAM111B,frameshift_variant,p.Phe67TyrfsTer5,ENST00000411426,NM_001142704.1;FAM111B,frameshift_variant,p.Phe67TyrfsTer5,ENST00000529618,NM_001142703.1;FAM111B,frameshift_variant,p.Phe67TyrfsTer5,ENST00000534403,;	-	ENST00000343597	Transcript	frameshift_variant	475-476/3488	284-285/2205	95/734	S/X	aGT/a		1		1	FAM111B	HGNC	HGNC:24200	protein_coding	YES	CCDS7972.1	ENSP00000341565	Q6SJ93		UPI00001D77B8	NM_198947.3			4/4		hmmpanther:PTHR14389,hmmpanther:PTHR14389:SF4																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	12	59124381	59124381	GT	-	1	0	1	0	1	0	0	0	0	5265	1029	36	0		0	FAM111B	11	59124381	Frame_Shift_Del	DEL	GT	C3L-00144_TP	702023	59124381	75962241	1085	5364											
OR5AN1	0	.	GRCh38	chr11	59364871	59364871	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctattcatccatcatgtCacccaccctctgtgtttgga	7	14	6	14	0	5	0	3	0	2	0	6	1	6	1	3	1	0	2	3	1	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.413C>A	p.Ser138Ter	p.S138*	ENST00000313940	1/1	122	97	25	90	90	0	strelka-varscan-mutect	OR5AN1,stop_gained,p.Ser138Ter,ENST00000313940,NM_001004729.1;	A	ENST00000313940	Transcript	stop_gained	460/1037	413/936	138/311	S/*	tCa/tAa		1		1	OR5AN1	HGNC	HGNC:15255	protein_coding	YES	CCDS31559.1	ENSP00000320302	Q8NGI8	A0A126GVP9	UPI000004B1FD	NM_001004729.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF262,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	HIGH	1	SNV				1										PASS		.	.												A	4	1	12	59364871	59364871	C	A	1	0	0	0	0	0	1	0	0	11215	838	29	2		2	OR5AN1	11	59364871	Nonsense_Mutation	SNP	C	C3L-00144_TP	240490	59364871	75721751	1086	5365											
OR5A1	0	.	GRCh38	chr11	59443910	59443910	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaacacgtgtgcctcgcatCtgatggtggtgactctgctg	6	11	13	11	2	2	2	0	2	2	0	3	2	2	2	1	2	3	3	1	2	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.742C>T	p.=	p.L248L	ENST00000302030	1/1	195	159	36	113	113	0	strelka-varscan-mutect	OR5A1,synonymous_variant,p.=,ENST00000302030,NM_001004728.1;	T	ENST00000302030	Transcript	synonymous_variant	767/1051	742/948	248/315	L	Ctg/Ttg		1		1	OR5A1	HGNC	HGNC:8319	protein_coding	YES	CCDS31561.1	ENSP00000303096	Q8NGJ0		UPI0000041C97	NM_001004728.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF354,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	12	59443910	59443910	C	T	1	0	0	0	0	0	0	0	1	11211	912	32	3		3	OR5A1	11	59443910	Silent	SNP	C	C3L-00144_TP	79039	59443910	75642712	1087	5366											
MS4A8	0	.	GRCh38	chr11	60708744	60708744	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaagtattccccacccatAtgcctaccccgactattatc	10	12	3	16	1	1	0	0	0	1	0	3	1	2	0	6	0	2	1	6	0	6	7	rs773486448		C3L-00144_TP	C3L-00144_NB	A	A																c.497A>G	p.Tyr166Cys	p.Y166C	ENST00000300226	5/7	173	137	36	124	124	0	strelka-varscan-mutect	MS4A8,missense_variant,p.Tyr166Cys,ENST00000300226,NM_031457.1;MS4A8,missense_variant,p.Tyr148Cys,ENST00000525458,;MS4A8,intron_variant,,ENST00000529752,;MS4A8,non_coding_transcript_exon_variant,,ENST00000533691,;MS4A8,non_coding_transcript_exon_variant,,ENST00000532953,;MS4A8,non_coding_transcript_exon_variant,,ENST00000533354,;MS4A8,non_coding_transcript_exon_variant,,ENST00000450141,;	G	ENST00000300226	Transcript	missense_variant	700/1353	497/753	166/250	Y/C	tAt/tGt	rs773486448	1		1	MS4A8	HGNC	HGNC:13380	protein_coding	YES	CCDS7990.1	ENSP00000300226	Q9BY19		UPI0000047F97	NM_031457.1	tolerated(0.07)		5/7		Low_complexity_(Seg):seg,hmmpanther:PTHR23320:SF56,hmmpanther:PTHR23320,Pfam_domain:PF04103																	MODERATE	1	SNV	1			1										PASS		rs773486448	.												G	3	3	12	60708744	60708744	A	G	1	0	0	0	0	1	0	0	0	9846	449	16	5		5	MS4A8	11	60708744	Missense_Mutation	SNP	A	C3L-00144_TP	1264834	60708744	74377878	1088	5367											
MS4A8	0	.	GRCh38	chr11	60715366	60715366	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgatcaccccagaaccGgtgacctcaccaccaagtta	12	6	7	16	1	2	3	2	2	0	1	2	3	2	3	7	1	1	1	7	1	3	1	rs371352560		C3L-00144_TP	C3L-00144_NB	G	G																c.705G>C	p.=	p.P235P	ENST00000300226	7/7	317	271	46	192	192	0	strelka-varscan-mutect	MS4A8,missense_variant,p.Gly218Arg,ENST00000529752,;MS4A8,synonymous_variant,p.=,ENST00000300226,NM_031457.1;MS4A8,downstream_gene_variant,,ENST00000525458,;	C	ENST00000300226	Transcript	synonymous_variant	908/1353	705/753	235/250	P	ccG/ccC	rs371352560	1		1	MS4A8	HGNC	HGNC:13380	protein_coding	YES	CCDS7990.1	ENSP00000300226	Q9BY19		UPI0000047F97	NM_031457.1			7/7		hmmpanther:PTHR23320:SF56,hmmpanther:PTHR23320																	LOW	1	SNV	1			1										PASS		rs371352560	.												C	2	2	12	60715366	60715366	G	C	1	0	0	0	0	0	0	0	1	9846	1103	39	4		4	MS4A8	11	60715366	Silent	SNP	G	C3L-00144_TP	6622	60715366	74371256	1089	5368											
SLC15A3	0	.	GRCh38	chr11	60951061	60951061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggccgagtagcagcaggCccgcgtagaggacgggcgcg	8	2	18	13	6	0	1	0	0	0	1	0	3	0	2	3	4	2	4	3	4	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.491G>T	p.Gly164Val	p.G164V	ENST00000227880	1/8	142	104	38	76	76	0	strelka-varscan-mutect	SLC15A3,missense_variant,p.Gly164Val,ENST00000227880,NM_016582.2;SLC15A3,missense_variant,p.Gly31Val,ENST00000538739,;SLC15A3,upstream_gene_variant,,ENST00000536491,;SLC15A3,missense_variant,p.Gly164Val,ENST00000541505,;SLC15A3,upstream_gene_variant,,ENST00000540272,;	A	ENST00000227880	Transcript	missense_variant	725/2115	491/1746	164/581	G/V	gGc/gTc		1		-1	SLC15A3	HGNC	HGNC:18068	protein_coding	YES	CCDS7998.1	ENSP00000227880	Q8IY34		UPI000004433B	NM_016582.2	tolerated(0.2)		1/8		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11654,hmmpanther:PTHR11654:SF95,Pfam_domain:PF00854,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		rs1301145621	.												A	3	1	12	60951061	60951061	C	A	1	0	0	0	0	1	0	0	0	14665	739	26	2		2	SLC15A3	11	60951061	Missense_Mutation	SNP	C	C3L-00144_TP	235695	60951061	74135561	1090	5369											
SCGB1D2	0	.	GRCh38	chr11	62243410	62243410	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggaagctgttgcagccaaGttaggagtgaagagatgcac	12	7	14	8	1	0	2	0	1	0	1	0	5	0	4	2	2	4	5	2	2	4	2	rs139603186		C3L-00144_TP	C3L-00144_NB	G	G																c.177G>C	p.Lys59Asn	p.K59N	ENST00000244926	2/3	219	178	41	152	152	0	strelka-varscan-mutect	SCGB1D2,missense_variant,p.Lys59Asn,ENST00000244926,NM_006551.3;RP11-703H8.9,intron_variant,,ENST00000529875,;	C	ENST00000244926	Transcript	missense_variant	275/480	177/273	59/90	K/N	aaG/aaC	rs139603186	1		1	SCGB1D2	HGNC	HGNC:18396	protein_coding	YES	CCDS8017.1	ENSP00000244926	O95969		UPI00000403D8	NM_006551.3	deleterious(0.04)		2/3		Gene3D:1utgA00,Pfam_domain:PF01099,PROSITE_profiles:PS51311,hmmpanther:PTHR11332,Superfamily_domains:SSF48201																	MODERATE	1	SNV	1			1										PASS		rs139603186	.												C	3	2	12	62243410	62243410	G	C	1	0	0	0	0	1	0	0	0	14164	1020	36	4		4	SCGB1D2	11	62243410	Missense_Mutation	SNP	G	C3L-00144_TP	1292349	62243410	72843212	1091	5370											
MTA2	0	.	GRCh38	chr11	62595013	62595013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatagttgccaggggcagcCgcaccagagggtgaatcttc	9	7	14	11	2	1	2	0	1	1	1	2	3	1	2	3	3	2	3	3	3	2	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1541G>T	p.Arg514Leu	p.R514L	ENST00000278823	15/18	280	228	52	164	164	0	strelka-varscan-mutect	MTA2,missense_variant,p.Arg514Leu,ENST00000278823,NM_004739.3;MTA2,missense_variant,p.Arg341Leu,ENST00000524902,;MTA2,missense_variant,p.Arg341Leu,ENST00000527204,;TUT1,upstream_gene_variant,,ENST00000476907,;TUT1,upstream_gene_variant,,ENST00000308436,NM_022830.2;TUT1,upstream_gene_variant,,ENST00000494385,;TUT1,upstream_gene_variant,,ENST00000278279,;RP11-864I4.1,upstream_gene_variant,,ENST00000496634,;TUT1,upstream_gene_variant,,ENST00000478537,;MTA2,downstream_gene_variant,,ENST00000526844,;MTA2,downstream_gene_variant,,ENST00000531179,;MTA2,downstream_gene_variant,,ENST00000531261,;MTA2,downstream_gene_variant,,ENST00000532239,;	A	ENST00000278823	Transcript	missense_variant	1931/3058	1541/2007	514/668	R/L	cGg/cTg		1		-1	MTA2	HGNC	HGNC:7411	protein_coding	YES	CCDS8022.1	ENSP00000278823	O94776	A0A024R534	UPI000012F743	NM_004739.3	deleterious(0.02)		15/18		hmmpanther:PTHR10865:SF4,hmmpanther:PTHR10865																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	62595013	62595013	C	A	1	0	0	0	0	1	0	0	0	9894	652	23	1		1	MTA2	11	62595013	Missense_Mutation	SNP	C	C3L-00144_TP	351603	62595013	72491609	1092	5371											
STX5	0	.	GRCh38	chr11	62824551	62824551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgggactctgcccccagaaCcacagcaccaccgcctgggg	9	4	11	17	1	1	1	0	0	1	1	1	2	1	2	6	3	3	1	6	3	1	0	rs531466952		C3L-00144_TP	C3L-00144_NB	C	C																c.694G>T	p.Val232Phe	p.V232F	ENST00000294179	9/11	267	206	61	226	226	0	strelka-varscan-mutect	STX5,missense_variant,p.Val232Phe,ENST00000294179,NM_003164.4;STX5,missense_variant,p.Val232Phe,ENST00000377897,NM_001244666.1;STX5,missense_variant,p.Val178Phe,ENST00000394690,;STX5,missense_variant,p.Val87Phe,ENST00000431400,;STX5,missense_variant,p.Trp235Cys,ENST00000491231,;STX5,3_prime_UTR_variant,,ENST00000492066,;STX5,downstream_gene_variant,,ENST00000488303,;STX5,downstream_gene_variant,,ENST00000486437,;	A	ENST00000294179	Transcript	missense_variant	848/1794	694/1068	232/355	V/F	Gtt/Ttt	rs531466952	1		-1	STX5	HGNC	HGNC:11440	protein_coding	YES	CCDS8038.2	ENSP00000294179	Q13190		UPI00001FA9B0	NM_003164.4	tolerated(0.06)		9/11		hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF3,Gene3D:1.20.58.70,Superfamily_domains:SSF47661																	MODERATE	1	SNV	1			1										PASS		rs531466952	.												A	3	1	12	62824551	62824551	C	A	1	0	0	0	0	1	0	0	0	15732	507	18	2		2	STX5	11	62824551	Missense_Mutation	SNP	C	C3L-00144_TP	229538	62824551	72262071	1093	5372											
SLC22A9	0	.	GRCh38	chr11	63373974	63373974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtattgcatttatgaccCtggcaggcctggcttttgcc	5	14	11	11	0	0	1	0	1	0	0	0	1	0	1	3	4	2	4	3	4	2	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.742C>A	p.Leu248Met	p.L248M	ENST00000279178	4/10	238	204	34	170	168	2	strelka-varscan-mutect	SLC22A9,missense_variant,p.Leu248Met,ENST00000279178,NM_080866.2;SLC22A10,downstream_gene_variant,,ENST00000525620,;SLC22A9,missense_variant,p.Pro196His,ENST00000536333,;	A	ENST00000279178	Transcript	missense_variant	991/2343	742/1662	248/553	L/M	Ctg/Atg		1		1	SLC22A9	HGNC	HGNC:16261	protein_coding	YES	CCDS8043.1	ENSP00000279178	Q8IVM8		UPI00000745FF	NM_080866.2	tolerated(0.18)		4/10		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF288,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	63373974	63373974	C	A	1	0	0	0	0	1	0	0	0	14727	680	24	2		2	SLC22A9	11	63373974	Missense_Mutation	SNP	C	C3L-00144_TP	549423	63373974	71712648	1094	5373											
PLA2G16	0	.	GRCh38	chr11	63598143	63598143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcgaaaaatctcaatcagGtctccaggcttaggctctgg	10	9	12	10	1	4	0	2	0	3	0	6	1	4	0	1	5	0	2	1	5	4	1	rs766854304		C3L-00144_TP	C3L-00144_NB	G	G																c.36C>T	p.=	p.D12D	ENST00000323646	2/4	248	196	52	183	183	0	strelka-varscan-mutect	PLA2G16,synonymous_variant,p.=,ENST00000323646,NM_007069.3;PLA2G16,synonymous_variant,p.=,ENST00000415826,NM_001128203.1;PLA2G16,intron_variant,,ENST00000540943,;PLA2G16,non_coding_transcript_exon_variant,,ENST00000544269,;PLA2G16,intron_variant,,ENST00000394613,;	A	ENST00000323646	Transcript	synonymous_variant	391/2594	36/489	12/162	D	gaC/gaT	rs766854304	1		-1	PLA2G16	HGNC	HGNC:17825	protein_coding	YES	CCDS8047.1	ENSP00000320337	P53816	A0A024R561	UPI000012CBE4	NM_007069.3			2/4		Pfam_domain:PF04970,hmmpanther:PTHR13943,hmmpanther:PTHR13943:SF33																	LOW	1	SNV	1			1										PASS		rs766854304	.												A	2	1	12	63598143	63598143	G	A	1	0	0	0	0	0	0	0	1	12089	1252	44	3		3	PLA2G16	11	63598143	Silent	SNP	G	C3L-00144_TP	224169	63598143	71488479	1095	5374											
BAD	0	.	GRCh38	chr11	64270250	64270250	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccctgcccaagttccgatCccaccaggactggaagactc	9	7	8	17	1	0	1	0	0	0	1	4	4	3	3	6	2	1	1	6	2	2	1	rs771173599		C3L-00144_TP	C3L-00144_NB	C	C																c.466G>T	p.Asp156Tyr	p.D156Y	ENST00000394532	3/3	78	58	20	59	59	0	strelka-varscan-mutect	BAD,missense_variant,p.Asp156Tyr,ENST00000394532,NM_004322.3;BAD,missense_variant,p.Asp156Tyr,ENST00000309032,NM_032989.2;BAD,missense_variant,p.Gly92Val,ENST00000544785,;GPR137,5_prime_UTR_variant,,ENST00000546139,;PLCB3,downstream_gene_variant,,ENST00000540288,NM_001316314.1,NM_000932.2;PLCB3,downstream_gene_variant,,ENST00000279230,;PLCB3,downstream_gene_variant,,ENST00000325234,NM_001184883.1;BAD,downstream_gene_variant,,ENST00000394531,;BAD,downstream_gene_variant,,ENST00000492141,;BAD,downstream_gene_variant,,ENST00000493798,;	A	ENST00000394532	Transcript	missense_variant	737/1157	466/507	156/168	D/Y	Gat/Tat	rs771173599	1		-1	BAD	HGNC	HGNC:936	protein_coding	YES	CCDS8065.1	ENSP00000378040	Q92934	A0A024R562	UPI0000035C7F	NM_004322.3	tolerated_low_confidence(0.06)		3/3		Pfam_domain:PF10514,hmmpanther:PTHR28540,hmmpanther:PTHR28540:SF1																	MODERATE	1	SNV	1			1										PASS		rs745596312	.												A	3	1	12	64270250	64270250	C	A	1	0	0	0	0	1	0	0	0	1443	855	30	2		2	BAD	11	64270250	Missense_Mutation	SNP	C	C3L-00144_TP	672107	64270250	70816372	1096	5375											
RASGRP2	0	.	GRCh38	chr11	64739669	64739669	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaaagtgtgtgatgaccagGgcccgctgcggggctgtggg	7	7	18	9	2	0	2	0	2	0	0	0	2	0	2	2	4	1	2	2	4	1	0	rs140968954		C3L-00144_TP	C3L-00144_NB	G	G																c.663C>A	p.=	p.A221A	ENST00000354024	7/17	160	114	46	121	121	0	strelka-varscan-mutect	RASGRP2,synonymous_variant,p.=,ENST00000377494,;RASGRP2,synonymous_variant,p.=,ENST00000354024,NM_153819.1;RASGRP2,synonymous_variant,p.=,ENST00000394432,NM_001098671.1;RASGRP2,synonymous_variant,p.=,ENST00000377497,NM_001098670.1;RASGRP2,synonymous_variant,p.=,ENST00000431822,;RASGRP2,downstream_gene_variant,,ENST00000394430,;RASGRP2,downstream_gene_variant,,ENST00000377486,;RASGRP2,downstream_gene_variant,,ENST00000377487,;RASGRP2,downstream_gene_variant,,ENST00000430645,;RASGRP2,downstream_gene_variant,,ENST00000377489,;RASGRP2,downstream_gene_variant,,ENST00000394429,;RASGRP2,downstream_gene_variant,,ENST00000394428,;RASGRP2,downstream_gene_variant,,ENST00000377485,;RASGRP2,downstream_gene_variant,,ENST00000419843,;RASGRP2,3_prime_UTR_variant,,ENST00000421556,NM_001318398.1;RASGRP2,3_prime_UTR_variant,,ENST00000445445,;RASGRP2,non_coding_transcript_exon_variant,,ENST00000464324,;RASGRP2,upstream_gene_variant,,ENST00000488071,;RASGRP2,upstream_gene_variant,,ENST00000465852,;RASGRP2,upstream_gene_variant,,ENST00000494001,;RASGRP2,upstream_gene_variant,,ENST00000497441,;RASGRP2,downstream_gene_variant,,ENST00000441258,;RASGRP2,downstream_gene_variant,,ENST00000480443,;	T	ENST00000354024	Transcript	synonymous_variant	916/2310	663/1830	221/609	A	gcC/gcA	rs140968954	1		-1	RASGRP2	HGNC	HGNC:9879	protein_coding	YES	CCDS31598.1	ENSP00000338864	Q7LDG7		UPI0000161186	NM_153819.1			7/17		PROSITE_profiles:PS50009,hmmpanther:PTHR23113:SF16,hmmpanther:PTHR23113,Gene3D:2ii0A02,Pfam_domain:PF00617,SMART_domains:SM00147,Superfamily_domains:0041591																	LOW	1	SNV	1			1										PASS		rs140968954	.												T	2	4	12	64739669	64739669	G	T	1	0	0	0	0	0	0	0	1	13236	1219	43	2		2	RASGRP2	11	64739669	Silent	SNP	G	C3L-00144_TP	469419	64739669	70346953	1097	5376											
BATF2	0	.	GRCh38	chr11	64989170	64989170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcagaggaaaggccaGgagagggtgagggctgggat	12	3	22	4	0	0	4	0	1	0	3	0	8	0	6	1	7	1	2	1	7	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.784C>A	p.Leu262Met	p.L262M	ENST00000301887	3/3	245	189	56	149	149	0	strelka-varscan-mutect	BATF2,missense_variant,p.Leu262Met,ENST00000301887,NM_138456.3;BATF2,missense_variant,p.Leu177Met,ENST00000435842,NM_001300808.1;BATF2,missense_variant,p.Leu238Met,ENST00000527716,NM_001300807.1;BATF2,downstream_gene_variant,,ENST00000534177,;BATF2,non_coding_transcript_exon_variant,,ENST00000527454,;	T	ENST00000301887	Transcript	missense_variant	915/2142	784/825	262/274	L/M	Ctg/Atg		1		-1	BATF2	HGNC	HGNC:25163	protein_coding	YES	CCDS8087.1	ENSP00000301887	Q8N1L9		UPI000006E749	NM_138456.3	deleterious(0.04)		3/3																			MODERATE	1	SNV	1			1										PASS		rs1288524345	.												T	3	4	12	64989170	64989170	G	T	1	0	0	0	0	1	0	0	0	1471	991	35	2		2	BATF2	11	64989170	Missense_Mutation	SNP	G	C3L-00144_TP	249501	64989170	70097452	1098	5377											
SYVN1	0	.	GRCh38	chr11	65128601	65128601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggggctggtggggaggctCctggggttggggtcgtggcc	2	8	23	8	1	0	0	0	0	0	0	2	1	1	1	2	11	0	3	2	11	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1709G>A	p.Gly570Glu	p.G570E	ENST00000377190	15/16	286	260	26	166	165	1	strelka-varscan-mutect	SYVN1,missense_variant,p.Gly569Glu,ENST00000526060,;SYVN1,missense_variant,p.Gly570Glu,ENST00000377190,NM_172230.2;SYVN1,missense_variant,p.Gly569Glu,ENST00000294256,NM_032431.2;SYVN1,missense_variant,p.Gly518Glu,ENST00000307289,;MRPL49,downstream_gene_variant,,ENST00000279242,NM_004927.3;SYVN1,downstream_gene_variant,,ENST00000531018,;SYVN1,downstream_gene_variant,,ENST00000528487,;MRPL49,downstream_gene_variant,,ENST00000533943,;MRPL49,downstream_gene_variant,,ENST00000534078,;MRPL49,downstream_gene_variant,,ENST00000526171,;MRPL49,downstream_gene_variant,,ENST00000531705,;SYVN1,downstream_gene_variant,,ENST00000610479,;MRPL49,downstream_gene_variant,,ENST00000524482,;MRPL49,downstream_gene_variant,,ENST00000528529,;SYVN1,downstream_gene_variant,,ENST00000526121,;SYVN1,downstream_gene_variant,,ENST00000527765,;SYVN1,non_coding_transcript_exon_variant,,ENST00000449943,;SYVN1,intron_variant,,ENST00000530451,;MRPL49,downstream_gene_variant,,ENST00000532671,;MRPL49,downstream_gene_variant,,ENST00000526319,;SYVN1,downstream_gene_variant,,ENST00000529207,;SYVN1,downstream_gene_variant,,ENST00000527142,;SYVN1,downstream_gene_variant,,ENST00000532771,;SYVN1,downstream_gene_variant,,ENST00000533685,;SYVN1,downstream_gene_variant,,ENST00000525874,;	T	ENST00000377190	Transcript	missense_variant	1804/3052	1709/1854	570/617	G/E	gGa/gAa		1		-1	SYVN1	HGNC	HGNC:20738	protein_coding	YES	CCDS31605.1	ENSP00000366395	Q86TM6		UPI000004EE90	NM_172230.2	tolerated(0.61)		15/16		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	65128601	65128601	C	T	1	0	0	0	0	1	0	0	0	15881	855	30	3		3	SYVN1	11	65128601	Missense_Mutation	SNP	C	C3L-00144_TP	139431	65128601	69958021	1099	5378											
MUS81	0	.	GRCh38	chr11	65860884	65860884	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacgcgcttcgtatttcAgaaggtgggtcctggcgtgg	5	10	15	11	5	1	1	1	0	0	1	3	1	2	1	2	4	0	3	2	4	2	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.131A>T	p.Gln44Leu	p.Q44L	ENST00000308110	1/16	63	53	10	52	52	0	strelka-varscan-mutect	MUS81,missense_variant,p.Gln44Leu,ENST00000308110,NM_025128.4;MUS81,missense_variant,p.Gln109Leu,ENST00000529857,;MUS81,5_prime_UTR_variant,,ENST00000525768,;MUS81,intron_variant,,ENST00000533035,;CFL1,intron_variant,,ENST00000532134,;CFL1,intron_variant,,ENST00000534769,;CFL1,upstream_gene_variant,,ENST00000525451,;CFL1,upstream_gene_variant,,ENST00000308162,NM_005507.2;MUS81,upstream_gene_variant,,ENST00000529374,;CFL1,upstream_gene_variant,,ENST00000531407,;CFL1,upstream_gene_variant,,ENST00000527344,;CFL1,upstream_gene_variant,,ENST00000524553,;CFL1,upstream_gene_variant,,ENST00000534784,;MUS81,upstream_gene_variant,,ENST00000529742,;MUS81,upstream_gene_variant,,ENST00000530111,;CFL1,upstream_gene_variant,,ENST00000530413,;CFL1,upstream_gene_variant,,ENST00000531413,;CFL1,upstream_gene_variant,,ENST00000526975,;CFL1,upstream_gene_variant,,ENST00000527752,;MUS81,upstream_gene_variant,,ENST00000525006,;MUS81,upstream_gene_variant,,ENST00000525224,;MUS81,missense_variant,p.Gln9Leu,ENST00000524647,;MUS81,upstream_gene_variant,,ENST00000531905,;SNX32,downstream_gene_variant,,ENST00000530101,;MUS81,upstream_gene_variant,,ENST00000530928,;CFL1,upstream_gene_variant,,ENST00000530945,;MUS81,upstream_gene_variant,,ENST00000529786,;MUS81,upstream_gene_variant,,ENST00000530282,;MUS81,upstream_gene_variant,,ENST00000533519,;MUS81,upstream_gene_variant,,ENST00000533555,;MUS81,upstream_gene_variant,,ENST00000525147,;	T	ENST00000308110	Transcript	missense_variant	480/2392	131/1656	44/551	Q/L	cAg/cTg		1		1	MUS81	HGNC	HGNC:29814	protein_coding	YES	CCDS8115.1	ENSP00000307853	Q96NY9		UPI000013ECCB	NM_025128.4	tolerated(0.07)		1/16		Gene3D:1bpeA01,hmmpanther:PTHR13451,hmmpanther:PTHR13451:SF0,Superfamily_domains:SSF47802																	MODERATE	1	SNV	1			1										PASS		rs1340892035	.												T	3	4	12	65860884	65860884	A	T	1	0	0	0	0	1	0	0	0	9986	202	7	4		4	MUS81	11	65860884	Missense_Mutation	SNP	A	C3L-00144_TP	732283	65860884	69225738	1100	5379											
BRMS1	0	.	GRCh38	chr11	66342128	66342128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttctgactctgtctggctgCcgctccgctcctcctcactc	2	13	7	19	2	4	1	1	1	3	0	8	1	7	1	4	1	1	3	4	1	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.107G>T	p.Gly36Val	p.G36V	ENST00000425825	2/10	283	216	67	149	149	0	strelka-varscan-mutect	BRMS1,missense_variant,p.Gly36Val,ENST00000359957,NM_015399.3;BRMS1,missense_variant,p.Gly36Val,ENST00000425825,NM_001024957.1;BRMS1,missense_variant,p.Gly36Val,ENST00000530756,;B4GAT1,downstream_gene_variant,,ENST00000311181,NM_006876.2;BRMS1,upstream_gene_variant,,ENST00000524699,;RP11-867G23.12,downstream_gene_variant,,ENST00000526655,;BRMS1,missense_variant,p.Gly36Val,ENST00000527375,;BRMS1,non_coding_transcript_exon_variant,,ENST00000530238,;BRMS1,non_coding_transcript_exon_variant,,ENST00000534617,;BRMS1,non_coding_transcript_exon_variant,,ENST00000525127,;BRMS1,non_coding_transcript_exon_variant,,ENST00000529544,;	A	ENST00000425825	Transcript	missense_variant	262/1363	107/873	36/290	G/V	gGc/gTc		1		-1	BRMS1	HGNC	HGNC:17262	protein_coding	YES	CCDS44654.1	ENSP00000396052		G5E9I4	UPI0000545267	NM_001024957.1	tolerated(0.06)		2/10		Low_complexity_(Seg):seg,hmmpanther:PTHR21964:SF15,hmmpanther:PTHR21964																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	12	66342128	66342128	C	A	1	0	0	0	0	1	0	0	0	1691	739	26	2		2	BRMS1	11	66342128	Missense_Mutation	SNP	C	C3L-00144_TP	481244	66342128	68744494	1101	5380											
SYT12	0	.	GRCh38	chr11	67048716	67048716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagatgttggccacgctgCgcaggcccgtgtccatgtgg	6	8	14	13	3	0	1	0	0	0	1	1	1	1	1	4	3	1	3	4	3	0	1	rs760875835		C3L-00144_TP	C3L-00144_NB	C	C																c.1225C>G	p.Arg409Gly	p.R409G	ENST00000393946	11/11	215	162	53	140	140	0	strelka-varscan-mutect	SYT12,missense_variant,p.Arg409Gly,ENST00000393946,;SYT12,missense_variant,p.Arg409Gly,ENST00000525457,NM_001177880.1;SYT12,missense_variant,p.Arg409Gly,ENST00000527043,NM_177963.3;MIR6860,downstream_gene_variant,,ENST00000635882,;	G	ENST00000393946	Transcript	missense_variant	2387/4534	1225/1266	409/421	R/G	Cgc/Ggc	rs760875835,COSM3383760	1		1	SYT12	HGNC	HGNC:18381	protein_coding	YES	CCDS8154.1	ENSP00000377520	Q8IV01		UPI00000746CD		deleterious(0)		11/11		Gene3D:2.60.40.150,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF252,SMART_domains:SM00239,Superfamily_domains:SSF49562											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs760875835	.												G	3	3	12	67048716	67048716	C	G	1	0	0	0	0	1	0	0	0	15862	768	27	4		4	SYT12	11	67048716	Missense_Mutation	SNP	C	C3L-00144_TP	706588	67048716	68037906	1102	5381											
CPT1A	0	.	GRCh38	chr11	68762634	68762634	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatggcacattaccgtctggGccgggtccaccatggcccgc	6	7	13	15	3	1	0	0	0	1	0	2	1	2	0	5	4	1	1	5	4	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1868C>G	p.Ala623Gly	p.A623G	ENST00000265641	15/19	444	326	118	322	322	0	strelka-varscan-mutect	CPT1A,missense_variant,p.Ala623Gly,ENST00000265641,NM_001876.3;CPT1A,missense_variant,p.Ala623Gly,ENST00000376618,NM_001031847.2;CPT1A,missense_variant,p.Ala623Gly,ENST00000540367,;CPT1A,missense_variant,p.Ala623Gly,ENST00000539743,;CPT1A,non_coding_transcript_exon_variant,,ENST00000537756,;	C	ENST00000265641	Transcript	missense_variant	2023/5232	1868/2322	623/773	A/G	gCc/gGc		1		-1	CPT1A	HGNC	HGNC:2328	protein_coding	YES	CCDS8185.1	ENSP00000265641	P50416	A0A024R5F4	UPI000013D658	NM_001876.3	tolerated(0.55)		15/19		Pfam_domain:PF00755,hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF74,Superfamily_domains:SSF52777																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	68762634	68762634	G	C	1	0	0	0	0	1	0	0	0	3628	1203	42	4		4	CPT1A	11	68762634	Missense_Mutation	SNP	G	C3L-00144_TP	1713918	68762634	66323988	1103	5382											
IGHMBP2	0	.	GRCh38	chr11	68935352	68935352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctgagcttgaaatcaaGtctgtcgatggcttccaagg	10	10	10	11	1	2	2	1	2	1	0	4	3	3	2	2	2	1	2	2	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1686G>T	p.Lys562Asn	p.K562N	ENST00000255078	12/15	598	431	167	429	429	0	strelka-varscan-mutect	IGHMBP2,missense_variant,p.Lys562Asn,ENST00000255078,NM_002180.2;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000541229,;IGHMBP2,downstream_gene_variant,,ENST00000568742,;IGHMBP2,downstream_gene_variant,,ENST00000536803,;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000539064,;IGHMBP2,non_coding_transcript_exon_variant,,ENST00000545475,;IGHMBP2,intron_variant,,ENST00000543739,;IGHMBP2,upstream_gene_variant,,ENST00000544521,;IGHMBP2,downstream_gene_variant,,ENST00000537458,;	T	ENST00000255078	Transcript	missense_variant	1797/3961	1686/2982	562/993	K/N	aaG/aaT		1		1	IGHMBP2	HGNC	HGNC:5542	protein_coding	YES	CCDS8187.1	ENSP00000255078	P38935		UPI000013CE82	NM_002180.2	tolerated(0.08)		12/15		Gene3D:3.40.50.300,Pfam_domain:PF13087,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF375,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00376																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	68935352	68935352	G	T	1	0	0	0	0	1	0	0	0	7498	1020	36	2		2	IGHMBP2	11	68935352	Missense_Mutation	SNP	G	C3L-00144_TP	172718	68935352	66151270	1104	5383											
FGF4	0	.	GRCh38	chr11	69774920	69774920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccaccggcaggcgcgcCaacgagagcgccaccaggct	8	2	14	17	5	0	1	0	0	0	1	0	2	0	1	5	3	3	3	5	3	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.165G>T	p.Leu55Phe	p.L55F	ENST00000168712	1/3	223	174	49	148	148	0	strelka-varscan-mutect	FGF4,missense_variant,p.Leu55Phe,ENST00000168712,NM_002007.2;FGF4,non_coding_transcript_exon_variant,,ENST00000538040,;	A	ENST00000168712	Transcript	missense_variant	484/3233	165/621	55/206	L/F	ttG/ttT		1		-1	FGF4	HGNC	HGNC:3682	protein_coding	YES	CCDS8194.1	ENSP00000168712	P08620		UPI0000040662	NM_002007.2	tolerated(0.12)		1/3		hmmpanther:PTHR11486:SF31,hmmpanther:PTHR11486																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	69774920	69774920	C	A	1	0	0	0	0	1	0	0	0	5718	593	21	2		2	FGF4	11	69774920	Missense_Mutation	SNP	C	C3L-00144_TP	839568	69774920	65311702	1105	5384											
ANO1	0	.	GRCh38	chr11	70124407	70124407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagtaccagcccatcgacCtggtcaggtaagaacgcgcc	12	6	10	13	3	1	1	1	0	0	1	2	2	1	1	4	2	3	2	4	2	4	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.955C>A	p.Leu319Met	p.L319M	ENST00000355303	9/26	241	205	36	178	178	0	strelka-varscan-mutect	ANO1,missense_variant,p.Leu319Met,ENST00000355303,NM_018043.5;ANO1,missense_variant,p.Leu54Met,ENST00000531349,;ANO1,missense_variant,p.Leu203Met,ENST00000530676,;ANO1,missense_variant,p.Leu291Met,ENST00000316296,;ANO1,missense_variant,p.Leu184Met,ENST00000530480,;RP11-805J14.3,upstream_gene_variant,,ENST00000530525,;	A	ENST00000355303	Transcript	missense_variant	1260/4790	955/2961	319/986	L/M	Ctg/Atg		1		1	ANO1	HGNC	HGNC:21625	protein_coding	YES	CCDS44663.1	ENSP00000347454	Q5XXA6		UPI000013CE03	NM_018043.5	deleterious(0)		9/26		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	70124407	70124407	C	A	1	0	0	0	0	1	0	0	0	802	680	24	2		2	ANO1	11	70124407	Missense_Mutation	SNP	C	C3L-00144_TP	349487	70124407	64962215	1106	5385											
ARAP1	0	.	GRCh38	chr11	72699443	72699443	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcaggagggggcactgcCaggcacacaatctcgctggc	8	6	15	12	1	2	0	1	0	1	0	3	1	2	1	1	5	1	3	1	5	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2412G>T	p.=	p.L804L	ENST00000393609	17/35	197	147	50	147	146	1	strelka-varscan-mutect	ARAP1,synonymous_variant,p.=,ENST00000359373,;ARAP1,synonymous_variant,p.=,ENST00000393609,NM_001040118.2;ARAP1,synonymous_variant,p.=,ENST00000334211,NM_015242.4;ARAP1,synonymous_variant,p.=,ENST00000393605,;ARAP1,synonymous_variant,p.=,ENST00000426523,;ARAP1,synonymous_variant,p.=,ENST00000429686,NM_001135190.1;ARAP1,synonymous_variant,p.=,ENST00000455638,;ARAP1,synonymous_variant,p.=,ENST00000427971,;ARAP1,synonymous_variant,p.=,ENST00000452383,;ARAP1,upstream_gene_variant,,ENST00000542596,;ARAP1-AS2,upstream_gene_variant,,ENST00000500163,;ARAP1,non_coding_transcript_exon_variant,,ENST00000495878,;ARAP1,upstream_gene_variant,,ENST00000544958,;ARAP1,non_coding_transcript_exon_variant,,ENST00000465814,;ARAP1,upstream_gene_variant,,ENST00000546293,;ARAP1,upstream_gene_variant,,ENST00000543868,;ARAP1,upstream_gene_variant,,ENST00000536993,;	A	ENST00000393609	Transcript	synonymous_variant	2615/5145	2412/4353	804/1450	L	ctG/ctT		1		-1	ARAP1	HGNC	HGNC:16925	protein_coding	YES	CCDS41687.1	ENSP00000377233	Q96P48		UPI000053F81B	NM_001040118.2			17/35		PROSITE_profiles:PS50003,hmmpanther:PTHR23180:SF195,hmmpanther:PTHR23180,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	LOW	1	SNV	2			1										PASS		rs1469305671	.												A	2	1	12	72699443	72699443	C	A	1	0	0	0	0	0	0	0	1	960	581	21	2		2	ARAP1	11	72699443	Silent	SNP	C	C3L-00144_TP	2575036	72699443	62387179	1107	5386											
PPME1	0	.	GRCh38	chr11	74203819	74203819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagagaatgaaactggcaagGatatatcctttgcaaaatgg	16	10	10	5	0	0	2	0	1	0	1	1	4	1	3	1	3	2	2	1	3	8	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.193G>T	p.Asp65Tyr	p.D65Y	ENST00000398427	2/14	160	128	32	129	128	1	strelka-varscan-mutect	PPME1,missense_variant,p.Asp65Tyr,ENST00000328257,NM_016147.2;PPME1,missense_variant,p.Asp65Tyr,ENST00000398427,NM_001271593.1;RNA5SP343,upstream_gene_variant,,ENST00000363779,;PPME1,splice_region_variant,,ENST00000542710,;PPME1,splice_region_variant,,ENST00000544401,;AP000577.2,upstream_gene_variant,,ENST00000624366,;	T	ENST00000398427	Transcript	missense_variant,splice_region_variant	293/2496	193/1203	65/400	D/Y	Gat/Tat		1		1	PPME1	HGNC	HGNC:30178	protein_coding	YES	CCDS60891.1	ENSP00000381461	Q9Y570		UPI0001639863	NM_001271593.1	deleterious(0.04)		2/14		hmmpanther:PTHR14189,PIRSF_domain:PIRSF022950																	MODERATE	1	SNV	1			1										PASS		rs1345039884	.												T	3	4	12	74203819	74203819	G	T	1	0	0	0	0	1	0	0	0	12457	1188	41	2		2	PPME1	11	74203819	Missense_Mutation	SNP	G	C3L-00144_TP	1504376	74203819	60882803	1108	5387											
MYO7A	0	.	GRCh38	chr11	77172781	77172781	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagcgctcgcccacacttAgcagccagttcaagcggtca	10	6	11	14	3	2	0	2	0	0	0	3	1	2	1	2	2	4	3	2	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1831A>T	p.Ser611Cys	p.S611C	ENST00000409709	16/49	442	365	77	275	275	0	strelka-varscan-mutect	MYO7A,missense_variant,p.Ser611Cys,ENST00000409709,NM_000260.3;MYO7A,missense_variant,p.Ser611Cys,ENST00000458637,NM_001127180.1;MYO7A,missense_variant,p.Ser600Cys,ENST00000409619,;MYO7A,missense_variant,p.Ser611Cys,ENST00000409893,NM_001127179.2;MYO7A,missense_variant,p.Ser611Cys,ENST00000620575,;	T	ENST00000409709	Transcript	missense_variant	2103/7462	1831/6648	611/2215	S/C	Agc/Tgc		1		1	MYO7A	HGNC	HGNC:7606	protein_coding	YES	CCDS53683.1	ENSP00000386331	Q13402		UPI00001FAFE6	NM_000260.3	tolerated(0.1)		16/49		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF369,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	77172781	77172781	A	T	1	0	0	0	0	1	0	0	0	10083	420	15	4		4	MYO7A	11	77172781	Missense_Mutation	SNP	A	C3L-00144_TP	2968962	77172781	57913841	1109	5388											
DDIAS	0	.	GRCh38	chr11	82933735	82933735	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaacctgtattttattcAgatcttgatggtaactatga	15	15	6	5	0	2	3	1	2	1	1	2	3	2	3	1	1	2	2	1	1	7	7	rs373304578		C3L-00144_TP	C3L-00144_NB	A	A																c.2397A>T	p.=	p.S799S	ENST00000533655	6/6	176	142	34	138	137	1	strelka-varscan-mutect	DDIAS,synonymous_variant,p.=,ENST00000533655,NM_145018.3;DDIAS,synonymous_variant,p.=,ENST00000329143,;DDIAS,3_prime_UTR_variant,,ENST00000528759,;DDIAS,intron_variant,,ENST00000525361,;PRCP,intron_variant,,ENST00000534396,;DDIAS,downstream_gene_variant,,ENST00000525388,;DDIAS,downstream_gene_variant,,ENST00000532277,;DDIAS,downstream_gene_variant,,ENST00000532764,;DDIAS,downstream_gene_variant,,ENST00000524921,;DDIAS,downstream_gene_variant,,ENST00000528262,;DDIAS,downstream_gene_variant,,ENST00000532589,;DDIAS,downstream_gene_variant,,ENST00000533750,;DDIAS,downstream_gene_variant,,ENST00000528189,;	T	ENST00000533655	Transcript	synonymous_variant	2609/3533	2397/2997	799/998	S	tcA/tcT	rs373304578	1		1	DDIAS	HGNC	HGNC:26351	protein_coding	YES	CCDS8263.1	ENSP00000435421	Q8IXT1		UPI00001AF966	NM_145018.3			6/6		hmmpanther:PTHR35537,hmmpanther:PTHR35537:SF1																	LOW	1	SNV	1			1										PASS		rs373304578	.												T	2	4	12	82933735	82933735	A	T	1	0	0	0	0	0	0	0	1	4133	175	7	4		4	DDIAS	11	82933735	Silent	SNP	A	C3L-00144_TP	5760954	82933735	52152887	1110	5389											
PCF11	0	.	GRCh38	chr11	83169463	83169463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaggtttgatgggcagcCaggtcagccgtcactcttgc	7	12	12	10	1	3	1	2	1	1	0	3	1	3	1	2	3	3	2	2	3	1	4	rs760922239		C3L-00144_TP	C3L-00144_NB	C	C																c.3128C>T	p.Pro1043Leu	p.P1043L	ENST00000298281	8/16	253	180	73	198	198	0	strelka-varscan-mutect	PCF11,missense_variant,p.Pro1043Leu,ENST00000298281,NM_015885.3;PCF11,downstream_gene_variant,,ENST00000530660,;PCF11,downstream_gene_variant,,ENST00000530304,;PCF11,upstream_gene_variant,,ENST00000530906,;	T	ENST00000298281	Transcript	missense_variant	3580/7677	3128/4668	1043/1555	P/L	cCa/cTa	rs760922239	1		1	PCF11	HGNC	HGNC:30097	protein_coding	YES	CCDS44689.1	ENSP00000298281	O94913		UPI00001BB2B7	NM_015885.3	deleterious(0.05)		8/16		hmmpanther:PTHR15921,hmmpanther:PTHR15921:SF3																	MODERATE	1	SNV	1			1										PASS		rs760922239	.												T	3	4	12	83169463	83169463	C	T	1	0	0	0	0	1	0	0	0	11661	594	21	3		3	PCF11	11	83169463	Missense_Mutation	SNP	C	C3L-00144_TP	235728	83169463	51917159	1111	5390											
TMEM126B	0	.	GRCh38	chr11	85628620	85628620	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaaaatggtggtgttcGggtatgaggctgggactaag	10	9	15	7	1	0	1	0	1	0	0	1	2	0	2	2	5	0	3	2	5	4	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.13G>C	p.Gly5Arg	p.G5R	ENST00000358867	1/5	292	241	51	186	186	0	strelka-varscan-mutect	TMEM126B,missense_variant,p.Gly5Arg,ENST00000534341,;TMEM126B,missense_variant,p.Gly5Arg,ENST00000358867,NM_018480.4;TMEM126B,5_prime_UTR_variant,,ENST00000393375,NM_001256546.1,NM_001193538.2;DLG2,upstream_gene_variant,,ENST00000376104,NM_001142699.1;TMEM126B,upstream_gene_variant,,ENST00000531274,;DLG2,upstream_gene_variant,,ENST00000472545,;DLG2,upstream_gene_variant,,ENST00000526147,;TMEM126B,missense_variant,p.Gly5Arg,ENST00000528361,;TMEM126B,missense_variant,p.Gly5Arg,ENST00000529197,;TMEM126B,missense_variant,p.Gly5Arg,ENST00000526822,NM_001256547.1;TMEM126B,missense_variant,p.Gly5Arg,ENST00000531477,;TMEM126B,missense_variant,p.Gly5Arg,ENST00000530783,;TMEM126B,missense_variant,p.Gly5Arg,ENST00000531718,;TMEM126B,missense_variant,p.Gly2Arg,ENST00000530901,;	C	ENST00000358867	Transcript	missense_variant	36/989	13/693	5/230	G/R	Ggg/Cgg		1		1	TMEM126B	HGNC	HGNC:30883	protein_coding	YES	CCDS8267.2	ENSP00000351737	Q8IUX1		UPI00003D5F21	NM_018480.4	tolerated_low_confidence(0.31)		1/5																			MODERATE		SNV	2			1										PASS		.	.												C	3	2	12	85628620	85628620	G	C	1	0	0	0	0	1	0	0	0	16483	1116	39	4		4	TMEM126B	11	85628620	Missense_Mutation	SNP	G	C3L-00144_TP	2459157	85628620	49458002	1112	5391											
PRSS23	0	.	GRCh38	chr11	86807898	86807898	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggccaagcaatatctGtcttatgaaacgctctatgc	13	10	9	9	1	3	2	0	1	3	1	3	3	3	2	1	1	3	2	1	1	7	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.255G>T	p.=	p.L85L	ENST00000280258	2/2	370	305	65	229	228	1	strelka-varscan-mutect	PRSS23,synonymous_variant,p.=,ENST00000280258,NM_001293180.1,NM_001293178.1,NM_007173.5,NM_001293179.1;PRSS23,synonymous_variant,p.=,ENST00000527521,;PRSS23,intron_variant,,ENST00000533902,;PRSS23,intron_variant,,ENST00000531475,;PRSS23,intron_variant,,ENST00000533880,;PRSS23,intron_variant,,ENST00000532234,;	T	ENST00000280258	Transcript	synonymous_variant	680/4015	255/1152	85/383	L	ctG/ctT		1		1	PRSS23	HGNC	HGNC:14370	protein_coding	YES	CCDS8278.1	ENSP00000280258	O95084		UPI0000048EBC	NM_001293180.1,NM_001293178.1,NM_007173.5,NM_001293179.1			2/2		hmmpanther:PTHR15462,hmmpanther:PTHR15462:SF10																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	86807898	86807898	G	T	1	0	0	0	0	0	0	0	1	12767	1364	48	2		2	PRSS23	11	86807898	Silent	SNP	G	C3L-00144_TP	1179278	86807898	48278724	1113	5392											
TRIM77	0	.	GRCh38	chr11	89710460	89710460	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctaattgctgccctgtGtgcagggaaatatcacagca	11	10	9	11	0	1	0	1	0	0	0	2	1	2	1	2	1	4	3	2	1	3	3	rs769499016		C3L-00144_TP	C3L-00144_NB	G	G																c.162G>T	p.=	p.V54V	ENST00000398290	1/6	228	185	43	152	152	0	strelka-varscan-mutect	TRIM77,synonymous_variant,p.=,ENST00000398290,NM_001146162.1,NM_001271942.1;TRIM77,upstream_gene_variant,,ENST00000534392,;	T	ENST00000398290	Transcript	synonymous_variant	162/1353	162/1353	54/450	V	gtG/gtT	rs769499016	1		1	TRIM77	HGNC	HGNC:34228	protein_coding	YES	CCDS60929.1	ENSP00000474003	I1YAP6		UPI00001607F2	NM_001146162.1,NM_001271942.1			1/6		PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF353,Pfam_domain:PF00097,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850																	LOW	1	SNV	5			1										PASS		rs769499016	.												T	2	4	12	89710460	89710460	G	T	1	0	0	0	0	0	0	0	1	17044	1364	48	2		2	TRIM77	11	89710460	Silent	SNP	G	C3L-00144_TP	2902562	89710460	45376162	1114	5393											
TRIM77	0	.	GRCh38	chr11	89710544	89710544	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacaagagaatcagtcccCtgccagttatcaagctctgc	11	9	7	14	0	3	1	2	0	1	1	4	2	4	1	4	0	4	2	4	0	5	2	rs773753410		C3L-00144_TP	C3L-00144_NB	C	C																c.246C>A	p.=	p.P82P	ENST00000398290	1/6	182	148	34	137	137	0	strelka-varscan-mutect	TRIM77,synonymous_variant,p.=,ENST00000398290,NM_001146162.1,NM_001271942.1;TRIM77,upstream_gene_variant,,ENST00000534392,;	A	ENST00000398290	Transcript	synonymous_variant	246/1353	246/1353	82/450	P	ccC/ccA	rs773753410	1		1	TRIM77	HGNC	HGNC:34228	protein_coding	YES	CCDS60929.1	ENSP00000474003	I1YAP6		UPI00001607F2	NM_001146162.1,NM_001271942.1			1/6		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF353																	LOW	1	SNV	5			1										PASS		rs773753410	.												A	2	1	12	89710544	89710544	C	A	1	0	0	0	0	0	0	0	1	17044	668	24	2		2	TRIM77	11	89710544	Silent	SNP	C	C3L-00144_TP	84	89710544	45376078	1115	5394											
TRIM49	0	.	GRCh38	chr11	89798400	89798400	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcattctgattcttctcTttccgatacatattacagac	9	18	3	11	1	4	2	1	1	4	1	7	3	5	2	1	0	2	0	1	0	3	8	rs560492199		C3L-00144_TP	C3L-00144_NB	T	T																c.1089A>T	p.Lys363Asn	p.K363N	ENST00000329758	8/8	563	491	72	422	422	0	strelka-varscan-mutect	TRIM49,missense_variant,p.Lys363Asn,ENST00000329758,NM_020358.2;TRIM49,missense_variant,p.Lys286Asn,ENST00000532501,;	A	ENST00000329758	Transcript	missense_variant	1418/2163	1089/1359	363/452	K/N	aaA/aaT	rs560492199,COSM932923	1		-1	TRIM49	HGNC	HGNC:13431	protein_coding	YES	CCDS8287.1	ENSP00000327604	P0CI25		UPI000013431B	NM_020358.2	tolerated(0.38)		8/8		Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,SMART_domains:SM00449,Superfamily_domains:SSF49899											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs560492199	.												A	3	1	12	89798400	89798400	T	A	1	0	0	0	0	1	0	0	0	17014	1606	56	4		4	TRIM49	11	89798400	Missense_Mutation	SNP	T	C3L-00144_TP	87856	89798400	45288222	1116	5395											
TRIM64	0	.	GRCh38	chr11	89970322	89970322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcgatgaggaggagcaaCggcatctgcaggcactggaa	11	7	14	9	2	2	1	0	1	2	0	3	5	2	4	0	5	3	4	0	5	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.583C>T	p.Arg195Trp	p.R195W	ENST00000533122	3/6	143	132	11	112	112	0	varscan-mutect	TRIM64,missense_variant,p.Arg195Trp,ENST00000533122,NM_001136486.1;	T	ENST00000533122	Transcript	missense_variant	585/2691	583/1350	195/449	R/W	Cgg/Tgg		1		1	TRIM64	HGNC	HGNC:14663	protein_coding	YES	CCDS73363.1	ENSP00000483764	A6NGJ6		UPI0001662601	NM_001136486.1	deleterious(0.02)		3/6		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103:SF354,hmmpanther:PTHR24103																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	89970322	89970322	C	T	1	0	0	0	0	1	0	0	0	17031	527	19	1		1	TRIM64	11	89970322	Missense_Mutation	SNP	C	C3L-00144_TP	171922	89970322	45116300	1117	5396											
NAALAD2	0	.	GRCh38	chr11	90134773	90134773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagccatggcggaatccagGggccgtctgtacctttggat	8	9	14	10	2	1	0	0	0	1	0	2	3	2	2	4	5	2	1	4	5	3	2	rs775781175		C3L-00144_TP	C3L-00144_NB	G	G																c.15G>T	p.Arg5Ser	p.R5S	ENST00000534061	1/19	338	254	84	296	296	0	strelka-varscan-mutect	NAALAD2,missense_variant,p.Arg5Ser,ENST00000534061,NM_005467.3;NAALAD2,missense_variant,p.Arg5Ser,ENST00000321955,NM_001300930.1;NAALAD2,missense_variant,p.Arg5Ser,ENST00000525171,;NAALAD2,missense_variant,p.Arg5Ser,ENST00000375944,;NAALAD2,missense_variant,p.Arg5Ser,ENST00000525497,;NAALAD2,upstream_gene_variant,,ENST00000526637,;NAALAD2,missense_variant,p.Arg5Ser,ENST00000527493,;NAALAD2,non_coding_transcript_exon_variant,,ENST00000524501,;NAALAD2,non_coding_transcript_exon_variant,,ENST00000529090,;	T	ENST00000534061	Transcript	missense_variant	245/3600	15/2223	5/740	R/S	agG/agT	rs775781175	1		1	NAALAD2	HGNC	HGNC:14526	protein_coding	YES	CCDS8288.1	ENSP00000432481	Q9Y3Q0		UPI0000031A85	NM_005467.3	tolerated_low_confidence(0.08)		1/19		hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF38																	MODERATE	1	SNV	1			1										PASS		rs775781175	.												T	3	4	12	90134773	90134773	G	T	1	0	0	0	0	1	0	0	0	10132	1223	43	2		2	NAALAD2	11	90134773	Missense_Mutation	SNP	G	C3L-00144_TP	164451	90134773	44951849	1118	5397											
HEPHL1	0	.	GRCh38	chr11	94110959	94110959	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgggacattccaaacCattgaactgtttgcagatca	11	13	7	10	0	1	2	1	1	0	1	3	3	3	3	3	1	3	2	3	1	2	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3102C>A	p.=	p.T1034T	ENST00000315765	18/20	234	180	54	163	163	0	strelka-varscan-mutect	HEPHL1,synonymous_variant,p.=,ENST00000315765,NM_001098672.1;	A	ENST00000315765	Transcript	synonymous_variant	3110/5345	3102/3480	1034/1159	T	acC/acA		1		1	HEPHL1	HGNC	HGNC:30477	protein_coding	YES	CCDS44710.1	ENSP00000313699	Q6MZM0		UPI0000237563	NM_001098672.1			18/20		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF655,Gene3D:2.60.40.420,Pfam_domain:PF07731,Superfamily_domains:SSF49503																	LOW	1	SNV	5			1										PASS		rs1196014982	.												A	2	1	12	94110959	94110959	C	A	1	0	0	0	0	0	0	0	1	6939	581	21	2		2	HEPHL1	11	94110959	Silent	SNP	C	C3L-00144_TP	3976186	94110959	40975663	1119	5398											
CNTN5	0	.	GRCh38	chr11	99956863	99956863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtggcggaagacagccGgcggttcatctcccaggaga	8	8	14	11	3	2	2	1	0	1	2	3	4	2	3	2	5	1	1	2	5	1	2	rs201219815		C3L-00144_TP	C3L-00144_NB	G	G																c.731G>T	p.Arg244Leu	p.R244L	ENST00000524871	8/25	370	301	69	308	308	0	strelka-varscan-mutect	CNTN5,missense_variant,p.Arg244Leu,ENST00000524871,NM_014361.3;CNTN5,missense_variant,p.Arg228Leu,ENST00000279463,;CNTN5,missense_variant,p.Arg166Leu,ENST00000619298,;CNTN5,missense_variant,p.Arg244Leu,ENST00000527185,NM_001243271.1;CNTN5,missense_variant,p.Arg244Leu,ENST00000528682,NM_001243270.1;CNTN5,missense_variant,p.Arg170Leu,ENST00000418526,NM_175566.2;CNTN5,non_coding_transcript_exon_variant,,ENST00000525236,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	T	ENST00000524871	Transcript	missense_variant	1021/6258	731/3303	244/1100	R/L	cGg/cTg	rs201219815	1		1	CNTN5	HGNC	HGNC:2175	protein_coding	YES	CCDS53696.1	ENSP00000435637	O94779		UPI000006DAB0	NM_014361.3	deleterious(0.01)		8/25		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs201219815	.												T	3	4	12	99956863	99956863	G	T	1	0	0	0	0	1	0	0	0	3425	1116	39	1		1	CNTN5	11	99956863	Missense_Mutation	SNP	G	C3L-00144_TP	5845904	99956863	35129759	1120	5399											
ARHGAP42	0	.	GRCh38	chr11	100988730	100988730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtgtacccatcagtggaaCcaggatggttaaaggcaact	13	8	11	9	0	1	0	1	0	0	0	1	2	1	2	2	4	3	3	2	4	5	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2554C>A	p.Pro852Thr	p.P852T	ENST00000298815	24/24	216	149	67	158	158	0	strelka-varscan-mutect	ARHGAP42,missense_variant,p.Pro818Thr,ENST00000524892,;ARHGAP42,missense_variant,p.Pro852Thr,ENST00000298815,NM_152432.2;TMEM133,upstream_gene_variant,,ENST00000303130,NM_032021.2;ARHGAP42,3_prime_UTR_variant,,ENST00000529535,;	A	ENST00000298815	Transcript	missense_variant	2557/4752	2554/2625	852/874	P/T	Cca/Aca		1		1	ARHGAP42	HGNC	HGNC:26545	protein_coding	YES		ENSP00000298815	A6NI28		UPI00005778C9	NM_152432.2	deleterious(0)		24/24		PROSITE_profiles:PS50002,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF3,Gene3D:2.30.30.40,Pfam_domain:PF14604,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	100988730	100988730	C	A	1	0	0	0	0	1	0	0	0	1013	507	18	2		2	ARHGAP42	11	100988730	Missense_Mutation	SNP	C	C3L-00144_TP	1031867	100988730	34097892	1121	5400											
PGR	0	.	GRCh38	chr11	101051490	101051490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtgtttgtaggatctccatCctagaccaaacaccattaag	12	11	7	11	1	1	1	0	0	1	1	3	2	2	2	4	1	1	2	4	1	4	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2291G>A	p.Gly764Glu	p.G764E	ENST00000325455	5/8	288	225	63	223	223	0	strelka-varscan-mutect	PGR,missense_variant,p.Gly764Glu,ENST00000325455,NM_000926.4,NM_001202474.3;PGR,missense_variant,p.Gly725Glu,ENST00000619228,;PGR,missense_variant,p.Gly662Glu,ENST00000617858,;PGR,missense_variant,p.Gly662Glu,ENST00000263463,NM_001271161.2;PGR,missense_variant,p.Gly170Glu,ENST00000534013,NM_001271162.1;PGR,missense_variant,p.Gly764Glu,ENST00000534780,;PGR,missense_variant,p.Gly725Glu,ENST00000528960,;PGR,missense_variant,p.Gly662Glu,ENST00000526300,;PGR,non_coding_transcript_exon_variant,,ENST00000533207,;PGR,upstream_gene_variant,,ENST00000530764,;	T	ENST00000325455	Transcript	missense_variant	3745/13748	2291/2802	764/933	G/E	gGa/gAa		1		-1	PGR	HGNC	HGNC:8910	protein_coding	YES	CCDS8310.1	ENSP00000325120	P06401		UPI0000046E22	NM_000926.4,NM_001202474.3	deleterious(0)		5/8		hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF7,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	101051490	101051490	C	T	1	0	0	0	0	1	0	0	0	11894	855	30	3		3	PGR	11	101051490	Missense_Mutation	SNP	C	C3L-00144_TP	62760	101051490	34035132	1122	5401											
PGR	0	.	GRCh38	chr11	101051503	101051503	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccatcctagaccaaacaCcattaagctcatccaagaat	15	9	3	14	0	2	2	1	0	1	2	5	2	4	2	5	0	2	1	5	0	5	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2278G>T	p.Val760Leu	p.V760L	ENST00000325455	5/8	292	228	64	226	226	0	strelka-varscan-mutect	PGR,missense_variant,p.Val760Leu,ENST00000325455,NM_000926.4,NM_001202474.3;PGR,missense_variant,p.Val721Leu,ENST00000619228,;PGR,missense_variant,p.Val658Leu,ENST00000617858,;PGR,missense_variant,p.Val658Leu,ENST00000263463,NM_001271161.2;PGR,missense_variant,p.Val166Leu,ENST00000534013,NM_001271162.1;PGR,missense_variant,p.Val760Leu,ENST00000534780,;PGR,missense_variant,p.Val721Leu,ENST00000528960,;PGR,missense_variant,p.Val658Leu,ENST00000526300,;PGR,non_coding_transcript_exon_variant,,ENST00000533207,;PGR,upstream_gene_variant,,ENST00000530764,;	A	ENST00000325455	Transcript	missense_variant	3732/13748	2278/2802	760/933	V/L	Gtg/Ttg		1		-1	PGR	HGNC	HGNC:8910	protein_coding	YES	CCDS8310.1	ENSP00000325120	P06401		UPI0000046E22	NM_000926.4,NM_001202474.3	deleterious(0.03)		5/8		hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF7,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508																	MODERATE	1	SNV	1			1										PASS		rs1368811016	.												A	3	1	12	101051503	101051503	C	A	1	0	0	0	0	1	0	0	0	11894	507	18	2		2	PGR	11	101051503	Missense_Mutation	SNP	C	C3L-00144_TP	13	101051503	34035119	1123	5402											
TRPC6	0	.	GRCh38	chr11	101476380	101476380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttgcgtcaatgatgctCtgggctttggaagcatgcca	8	13	11	9	1	3	1	2	1	1	0	3	2	3	2	1	2	4	3	1	2	2	2			C3L-00144_TP	C3L-00144_NB	C	C																c.1665G>T	p.Gln555His	p.Q555H	ENST00000344327	6/13	266	196	70	198	196	2	strelka-varscan-mutect	TRPC6,missense_variant,p.Gln555His,ENST00000344327,NM_004621.5;TRPC6,missense_variant,p.Gln500His,ENST00000360497,;TRPC6,missense_variant,p.Gln439His,ENST00000348423,;TRPC6,intron_variant,,ENST00000532133,;	A	ENST00000344327	Transcript	missense_variant	2090/4612	1665/2796	555/931	Q/H	caG/caT	COSM3442572	1		-1	TRPC6	HGNC	HGNC:12338	protein_coding	YES	CCDS8311.1	ENSP00000340913	Q9Y210		UPI00001374BA	NM_004621.5	deleterious(0.03)		6/13		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7,Pfam_domain:PF00520,TIGRFAM_domain:TIGR00870,Prints_domain:PR01647											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	101476380	101476380	C	A	1	0	0	0	0	1	0	0	0	17089	912	32	2		2	TRPC6	11	101476380	Missense_Mutation	SNP	C	C3L-00144_TP	424877	101476380	33610242	1124	5403											
CEP126	0	.	GRCh38	chr11	101962765	101962765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtgagatttcttaaaaGtattttaaagaaagaatcta	16	15	8	2	0	2	3	0	1	2	3	2	4	2	3	0	1	0	1	0	1	8	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1730G>T	p.Ser577Ile	p.S577I	ENST00000263468	6/11	79	63	16	86	86	0	strelka-varscan-mutect	CEP126,missense_variant,p.Ser577Ile,ENST00000263468,NM_020802.3;CEP126,3_prime_UTR_variant,,ENST00000532529,;	T	ENST00000263468	Transcript	missense_variant	2000/7039	1730/3354	577/1117	S/I	aGt/aTt		1		1	CEP126	HGNC	HGNC:29264	protein_coding	YES	CCDS31658.1	ENSP00000263468	Q9P2H0		UPI0004433B8D	NM_020802.3	deleterious(0)		6/11		hmmpanther:PTHR31191:SF4,hmmpanther:PTHR31191,Pfam_domain:PF15352																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	101962765	101962765	G	T	1	0	0	0	0	1	0	0	0	2957	1029	36	2		2	CEP126	11	101962765	Missense_Mutation	SNP	G	C3L-00144_TP	486385	101962765	33123857	1125	5404											
MMP12	0	.	GRCh38	chr11	102873019	102873019	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaagaagtgctgcatttCttggattttttccttcatta	9	17	6	9	0	2	1	1	0	1	1	3	2	3	2	2	1	2	2	2	1	3	7	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.196G>T	p.Glu66Ter	p.E66*	ENST00000571244	2/10	509	411	98	326	325	1	strelka-varscan-mutect	MMP12,stop_gained,p.Glu66Ter,ENST00000571244,NM_002426.4;	A	ENST00000571244	Transcript	stop_gained	293/1874	196/1413	66/470	E/*	Gaa/Taa		1		-1	MMP12	HGNC	HGNC:7158	protein_coding	YES	CCDS73375.1	ENSP00000458585	P39900		UPI00000422BE	NM_002426.4			2/10		Gene3D:3.40.390.10,Pfam_domain:PF01471,PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF32,Superfamily_domains:SSF47090																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	102873019	102873019	C	A	1	0	0	0	0	0	1	0	0	9614	922	32	2		2	MMP12	11	102873019	Nonsense_Mutation	SNP	C	C3L-00144_TP	910254	102873019	32213603	1126	5405											
GRIA4	0	.	GRCh38	chr11	105924765	105924765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaaggatgtgacatttcaCccaggttagtttcaaatctc	12	12	8	9	0	3	1	2	1	1	0	4	2	3	2	1	2	1	3	1	2	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1843C>A	p.Pro615Thr	p.P615T	ENST00000282499	12/17	50	29	21	54	54	0	strelka-varscan-mutect	GRIA4,missense_variant,p.Pro615Thr,ENST00000393127,NM_001077243.2;GRIA4,missense_variant,p.Pro615Thr,ENST00000282499,NM_000829.3;GRIA4,missense_variant,p.Pro615Thr,ENST00000530497,;GRIA4,missense_variant,p.Pro615Thr,ENST00000525187,;	A	ENST00000282499	Transcript	missense_variant	2289/5508	1843/2709	615/902	P/T	Ccc/Acc		1		1	GRIA4	HGNC	HGNC:4574	protein_coding	YES	CCDS8333.1	ENSP00000282499	P48058		UPI000013DCE6	NM_000829.3	deleterious(0)		12/17		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF100,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF81324																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	105924765	105924765	C	A	1	0	0	0	0	1	0	0	0	6650	521	18	2		2	GRIA4	11	105924765	Missense_Mutation	SNP	C	C3L-00144_TP	3051746	105924765	29161857	1127	5406											
MSANTD4	0	.	GRCh38	chr11	106009590	106009590	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctttctctacctgtaagCgttccttttcaatctgcagc	6	17	6	12	1	4	0	1	0	3	0	6	0	5	0	2	0	4	3	2	0	3	6	rs752235602		C3L-00144_TP	C3L-00144_NB	C	C																c.983G>C	p.Arg328Pro	p.R328P	ENST00000301919	3/3	171	128	43	141	141	0	strelka-varscan-mutect	MSANTD4,missense_variant,p.Arg328Pro,ENST00000301919,NM_032424.1;MSANTD4,downstream_gene_variant,,ENST00000530788,;MSANTD4,downstream_gene_variant,,ENST00000530108,;MSANTD4,downstream_gene_variant,,ENST00000534458,;MSANTD4,downstream_gene_variant,,ENST00000617528,;MSANTD4,non_coding_transcript_exon_variant,,ENST00000529805,;	G	ENST00000301919	Transcript	missense_variant	2399/4087	983/1038	328/345	R/P	cGc/cCc	rs752235602,COSM4017476	1		-1	MSANTD4	HGNC	HGNC:29383	protein_coding	YES	CCDS31663.1	ENSP00000304713	Q8NCY6		UPI0000073CF1	NM_032424.1	deleterious(0)		3/3		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21732											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs752235602	.												G	3	3	12	106009590	106009590	C	G	1	0	0	0	0	1	0	0	0	9850	768	27	4		4	MSANTD4	11	106009590	Missense_Mutation	SNP	C	C3L-00144_TP	84825	106009590	29077032	1128	5407											
GUCY1A2	0	.	GRCh38	chr11	106776570	106776570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacacagtaggcatcacCtattgtttccacctgcagca	11	10	7	13	0	1	0	1	0	0	0	2	0	2	0	3	1	4	6	3	1	3	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1705G>T	p.Gly569Cys	p.G569C	ENST00000282249	6/9	170	120	50	134	134	0	strelka-varscan-mutect	GUCY1A2,missense_variant,p.Gly569Cys,ENST00000526355,NM_000855.2;GUCY1A2,missense_variant,p.Gly569Cys,ENST00000282249,NM_001256424.1;GUCY1A2,missense_variant,p.Gly590Cys,ENST00000347596,;	A	ENST00000282249	Transcript	missense_variant	2095/3047	1705/2292	569/763	G/C	Ggt/Tgt		1		-1	GUCY1A2	HGNC	HGNC:4684	protein_coding	YES	CCDS58170.1	ENSP00000282249	P33402		UPI000002A79C	NM_001256424.1	deleterious(0)		6/9		PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF276,Pfam_domain:PF00211,Gene3D:3.30.70.1230,SMART_domains:SM00044,Superfamily_domains:SSF55073																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	106776570	106776570	C	A	1	0	0	0	0	1	0	0	0	6775	681	24	2		2	GUCY1A2	11	106776570	Missense_Mutation	SNP	C	C3L-00144_TP	766980	106776570	28310052	1129	5408											
ATM	0	.	GRCh38	chr11	108244923	108244923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccactttgctttatatttgGactcaacataggcttaatga	11	15	6	9	0	1	1	1	1	0	0	1	2	1	2	1	2	2	2	1	2	5	7	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.798G>T	p.Trp266Cys	p.W266C	ENST00000278616	7/63	337	281	56	296	296	0	strelka-varscan-mutect	ATM,missense_variant,p.Trp266Cys,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Trp266Cys,ENST00000452508,;ATM,missense_variant,p.Trp266Cys,ENST00000527805,;ATM,downstream_gene_variant,,ENST00000527891,;	T	ENST00000278616	Transcript	missense_variant	1183/13147	798/9171	266/3056	W/C	tgG/tgT		1		1	ATM	HGNC	HGNC:795	protein_coding	YES	CCDS31669.1	ENSP00000278616	Q13315	A0A024R3C7	UPI000016B511	NM_000051.3	deleterious(0)		7/63		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF72,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	108244923	108244923	G	T	1	0	0	0	0	1	0	0	0	1261	1183	41	2		2	ATM	11	108244923	Missense_Mutation	SNP	G	C3L-00144_TP	1468353	108244923	26841699	1130	5409											
EXPH5	0	.	GRCh38	chr11	108514033	108514033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgcttcgatgaaagtCagaccagaaagaatgtcctt	12	12	8	9	1	1	4	1	1	0	3	4	5	3	4	3	0	1	1	3	0	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1474G>T	p.Asp492Tyr	p.D492Y	ENST00000265843	6/6	186	155	31	143	143	0	strelka-varscan-mutect	EXPH5,missense_variant,p.Asp492Tyr,ENST00000265843,NM_001144764.1,NM_001144765.1,NM_001144763.1,NM_015065.2;EXPH5,missense_variant,p.Asp485Tyr,ENST00000525344,NM_001308019.1;EXPH5,missense_variant,p.Asp416Tyr,ENST00000526312,;EXPH5,missense_variant,p.Asp304Tyr,ENST00000533052,;EXPH5,missense_variant,p.Asp336Tyr,ENST00000524840,;	A	ENST00000265843	Transcript	missense_variant	1585/10187	1474/5970	492/1989	D/Y	Gac/Tac		1		-1	EXPH5	HGNC	HGNC:30578	protein_coding	YES	CCDS8341.1	ENSP00000265843	Q8NEV8		UPI00018E24EB	NM_001144764.1,NM_001144765.1,NM_001144763.1,NM_015065.2	deleterious(0)		6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR21469																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	108514033	108514033	C	A	1	0	0	0	0	1	0	0	0	5190	826	29	2		2	EXPH5	11	108514033	Missense_Mutation	SNP	C	C3L-00144_TP	269110	108514033	26572589	1131	5410											
DDX10	0	.	GRCh38	chr11	108692031	108692031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctactgatattgcagccagGggtctgggtaagaaaacttc	11	10	12	8	0	1	2	0	1	1	1	2	2	1	2	1	3	4	3	1	3	5	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1131G>T	p.Arg377Ser	p.R377S	ENST00000322536	8/18	108	86	22	83	83	0	strelka-varscan-mutect	DDX10,missense_variant,p.Arg377Ser,ENST00000526794,;DDX10,missense_variant,p.Arg377Ser,ENST00000322536,NM_004398.3;RPS2P39,upstream_gene_variant,,ENST00000492327,;	T	ENST00000322536	Transcript	missense_variant	1260/3264	1131/2628	377/875	R/S	agG/agT		1		1	DDX10	HGNC	HGNC:2735	protein_coding	YES	CCDS8342.1	ENSP00000314348	Q13206		UPI0000140E62	NM_004398.3	deleterious(0)		8/18		PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF281,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	108692031	108692031	G	T	1	0	0	0	0	1	0	0	0	4146	1223	43	2		2	DDX10	11	108692031	Missense_Mutation	SNP	G	C3L-00144_TP	177998	108692031	26394591	1132	5411											
C11orf87	0	.	GRCh38	chr11	109424082	109424082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccaacgcctcgtcgttgtCctcttcgtcccctggcctcc	2	13	7	19	4	1	0	0	0	1	0	8	0	5	0	7	1	1	1	7	1	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.449C>A	p.Ser150Tyr	p.S150Y	ENST00000327419	2/2	361	275	86	268	266	2	strelka-varscan-mutect	C11orf87,missense_variant,p.Ser150Tyr,ENST00000327419,NM_207645.3;RP11-708B6.2,intron_variant,,ENST00000532929,;RP11-708B6.2,intron_variant,,ENST00000532992,;	A	ENST00000327419	Transcript	missense_variant	852/5884	449/594	150/197	S/Y	tCc/tAc		1		1	C11orf87	HGNC	HGNC:33788	protein_coding	YES	CCDS31672.1	ENSP00000331581	Q6NUJ2	A0A158RFU1	UPI000013E5BC	NM_207645.3	tolerated_low_confidence(0.06)		2/2		hmmpanther:PTHR31870,hmmpanther:PTHR31870:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	109424082	109424082	C	A	1	0	0	0	0	1	0	0	0	1799	855	30	2		2	C11orf87	11	109424082	Missense_Mutation	SNP	C	C3L-00144_TP	732051	109424082	25662540	1133	5412											
ARHGAP20	0	.	GRCh38	chr11	110583616	110583616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagaatacttggagcgaCacacacagctaaattaaatg	18	7	7	9	1	0	1	0	0	0	1	0	3	0	2	1	1	3	1	1	1	7	4	rs773385706		C3L-00144_TP	C3L-00144_NB	C	C																c.1537G>T	p.Val513Phe	p.V513F	ENST00000260283	14/16	304	226	78	202	202	0	strelka-varscan-mutect	ARHGAP20,missense_variant,p.Val513Phe,ENST00000260283,NM_020809.3;ARHGAP20,missense_variant,p.Val490Phe,ENST00000524756,NM_001258415.1;ARHGAP20,missense_variant,p.Val487Phe,ENST00000533353,NM_001258416.1;ARHGAP20,missense_variant,p.Val477Phe,ENST00000527598,NM_001258418.1;ARHGAP20,missense_variant,p.Val477Phe,ENST00000528829,NM_001258417.1;ARHGAP20,missense_variant,p.Val56Phe,ENST00000529591,;	A	ENST00000260283	Transcript	missense_variant	1822/6189	1537/3576	513/1191	V/F	Gtc/Ttc	rs773385706	1		-1	ARHGAP20	HGNC	HGNC:18357	protein_coding	YES	CCDS31673.1	ENSP00000260283	Q9P2F6		UPI000013D0BA	NM_020809.3	deleterious(0.04)		14/16		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR23179,hmmpanther:PTHR23179:SF28,SMART_domains:SM00324,Superfamily_domains:SSF48350																	MODERATE	1	SNV	1			1										PASS		rs773385706	.												A	3	1	12	110583616	110583616	C	A	1	0	0	0	0	1	0	0	0	994	478	17	2		2	ARHGAP20	11	110583616	Missense_Mutation	SNP	C	C3L-00144_TP	1159534	110583616	24503006	1134	5413											
NCAM1	0	.	GRCh38	chr11	113270396	113270396	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcaaggccgccttctcGtgagtgcagacctgtccacc	7	7	13	14	2	1	2	0	1	1	1	3	3	2	2	5	2	1	2	5	2	1	1	rs782039890		C3L-00144_TP	C3L-00144_NB	G	G																c.2417+1G>T		p.X806_splice	ENST00000619839		179	137	42	120	120	0	strelka-varscan-mutect	NCAM1,splice_donor_variant,,ENST00000615285,;NCAM1,splice_donor_variant,,ENST00000615112,;NCAM1,splice_donor_variant,,ENST00000618266,;NCAM1,splice_donor_variant,,ENST00000316851,NM_181351.4;NCAM1,splice_donor_variant,,ENST00000619839,NM_001242607.1;NCAM1,splice_donor_variant,,ENST00000531044,NM_000615.6;NCAM1,splice_donor_variant,,ENST00000528158,;NCAM1,splice_donor_variant,,ENST00000533073,;NCAM1,splice_donor_variant,,ENST00000528590,;NCAM1,downstream_gene_variant,,ENST00000620046,;NCAM1-AS1,non_coding_transcript_exon_variant,,ENST00000526229,;NCAM1-AS1,non_coding_transcript_exon_variant,,ENST00000533638,;NCAM1,splice_donor_variant,,ENST00000611284,;NCAM1,splice_donor_variant,,ENST00000533226,;	T	ENST00000619839	Transcript	splice_donor_variant	-/2993	2417/2655	806/884			rs782039890	1		1	NCAM1	HGNC	HGNC:7656	protein_coding	YES	CCDS73384.1	ENSP00000480132		A0A087WWD4	UPI00021269F1	NM_001242607.1				19/20																		HIGH		SNV	5			1										PASS		rs782039890	.												T	5	4	12	113270396	113270396	G	T	1	0	0	0	0	0	0	1	0	10218	1159	40	1		1	NCAM1	11	113270396	Splice_Site	SNP	G	C3L-00144_TP	2686780	113270396	21816226	1135	5414											
RNF214	0	.	GRCh38	chr11	117238869	117238869	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggggacacaagccttcggGagagcctccatccagtcact	10	6	12	13	1	1	1	1	0	0	1	4	3	3	2	4	3	2	0	4	3	1	1			C3L-00144_TP	C3L-00144_NB	G	G																c.376G>T	p.Glu126Ter	p.E126*	ENST00000300650	3/15	334	234	100	269	267	2	strelka-varscan-mutect	RNF214,stop_gained,p.Glu126Ter,ENST00000300650,NM_207343.3;RNF214,stop_gained,p.Glu126Ter,ENST00000531452,NM_001077239.1;RNF214,stop_gained,p.Glu126Ter,ENST00000534428,;RNF214,intron_variant,,ENST00000530849,;RNF214,intron_variant,,ENST00000531287,NM_001278249.1;RNF214,non_coding_transcript_exon_variant,,ENST00000529869,;	T	ENST00000300650	Transcript	stop_gained	484/2755	376/2112	126/703	E/*	Gag/Tag	COSM253286	1		1	RNF214	HGNC	HGNC:25335	protein_coding	YES	CCDS41720.1	ENSP00000300650	Q8ND24	A0A024R3D4	UPI00001D7749	NM_207343.3			3/15		hmmpanther:PTHR15727											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	12	117238869	117238869	G	T	1	0	0	0	0	0	1	0	0	13657	1175	41	2		2	RNF214	11	117238869	Nonsense_Mutation	SNP	G	C3L-00144_TP	3968473	117238869	17847753	1136	5415											
CD3D	0	.	GRCh38	chr11	118339884	118339884	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccacggtggctggatcCagctccacacagctctggca	8	6	11	16	1	1	0	0	0	1	0	3	1	3	1	4	4	3	4	4	4	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.297G>T	p.=	p.L99L	ENST00000300692	3/5	508	386	122	381	381	0	strelka-varscan-mutect	CD3D,synonymous_variant,p.=,ENST00000300692,NM_000732.4;CD3D,synonymous_variant,p.=,ENST00000529594,;CD3D,intron_variant,,ENST00000534687,;CD3D,intron_variant,,ENST00000392884,NM_001040651.1;CD3G,upstream_gene_variant,,ENST00000532917,NM_000073.2;CD3G,upstream_gene_variant,,ENST00000392883,;CD3G,upstream_gene_variant,,ENST00000532903,;CD3G,upstream_gene_variant,,ENST00000528540,;CD3D,intron_variant,,ENST00000526561,;CD3G,upstream_gene_variant,,ENST00000292144,;CD3G,upstream_gene_variant,,ENST00000533462,;CD3G,upstream_gene_variant,,ENST00000527777,;	A	ENST00000300692	Transcript	synonymous_variant	434/861	297/516	99/171	L	ctG/ctT		1		-1	CD3D	HGNC	HGNC:1673	protein_coding	YES	CCDS8394.1	ENSP00000300692	P04234	B0YIY4	UPI0000127356	NM_000732.4			3/5		Gene3D:2.60.40.10,Pfam_domain:PF16680,hmmpanther:PTHR10570,hmmpanther:PTHR10570:SF5																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	118339884	118339884	C	A	1	0	0	0	0	0	0	0	1	2714	581	21	2		2	CD3D	11	118339884	Silent	SNP	C	C3L-00144_TP	1101015	118339884	16746738	1137	5416											
CD3G	0	.	GRCh38	chr11	118350683	118350683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagttcgccagtcgagaGgtaaaagaatgctcttagat	13	10	12	6	2	1	3	0	0	1	3	3	5	1	4	1	2	1	3	1	2	4	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.439G>T	p.Ala147Ser	p.A147S	ENST00000532917	4/7	391	321	70	262	259	3	strelka-varscan-mutect	CD3G,missense_variant,p.Ala147Ser,ENST00000532917,NM_000073.2;CD3G,intron_variant,,ENST00000392883,;CD3G,splice_region_variant,,ENST00000532903,;CD3G,downstream_gene_variant,,ENST00000528540,;CD3G,splice_region_variant,,ENST00000292144,;CD3G,non_coding_transcript_exon_variant,,ENST00000527777,;CD3G,downstream_gene_variant,,ENST00000533462,;	T	ENST00000532917	Transcript	missense_variant,splice_region_variant	507/2678	439/549	147/182	A/S	Gct/Tct		1		1	CD3G	HGNC	HGNC:1675	protein_coding	YES	CCDS8395.1	ENSP00000431445	P09693	B0YIY5	UPI000012735F	NM_000073.2	deleterious(0.02)		4/7		hmmpanther:PTHR10570,hmmpanther:PTHR10570:SF8																	MODERATE	1	SNV	1			1										PASS		rs1352779607	.												T	3	4	12	118350683	118350683	G	T	1	0	0	0	0	1	0	0	0	2717	1014	35	2		2	CD3G	11	118350683	Missense_Mutation	SNP	G	C3L-00144_TP	10799	118350683	16735939	1138	5417											
POU2F3	0	.	GRCh38	chr11	120299726	120299726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacccagcctgggcagcaaGgtaagaaccctgggggtttc	10	6	14	11	0	0	2	0	0	0	2	1	2	0	2	3	4	3	4	3	4	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.367G>T	p.Gly123Cys	p.G123C	ENST00000260264	5/13	161	127	34	103	102	1	strelka-varscan-mutect	POU2F3,missense_variant,p.Gly123Cys,ENST00000260264,NM_001244682.1;POU2F3,missense_variant,p.Gly121Cys,ENST00000543440,NM_014352.3;POU2F3,stop_gained,p.Glu121Ter,ENST00000533620,;POU2F3,upstream_gene_variant,,ENST00000606153,;	T	ENST00000260264	Transcript	missense_variant,splice_region_variant	401/2903	367/1317	123/438	G/C	Ggt/Tgt		1		1	POU2F3	HGNC	HGNC:19864	protein_coding	YES	CCDS58190.1	ENSP00000260264	Q9UKI9		UPI0002064EE0	NM_001244682.1	deleterious(0)		5/13		Low_complexity_(Seg):seg,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF81,Prints_domain:PR00029																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	120299726	120299726	G	T	1	0	0	0	0	1	0	0	0	12389	1014	35	2		2	POU2F3	11	120299726	Missense_Mutation	SNP	G	C3L-00144_TP	1949043	120299726	14786896	1139	5418											
TECTA	0	.	GRCh38	chr11	121168926	121168926	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatttcatcattgaaggaggGtgagtagcctctttatagac	11	14	10	6	0	3	3	2	2	1	1	3	4	3	4	1	2	1	1	1	2	5	7	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.5999+1G>A		p.X2000_splice	ENST00000392793		322	238	84	252	250	2	strelka-varscan-mutect	TECTA,splice_donor_variant,,ENST00000392793,;TECTA,splice_donor_variant,,ENST00000264037,NM_005422.2;	A	ENST00000392793	Transcript	splice_donor_variant	-/7426	5999/6468	2000/2155				1		1	TECTA	HGNC	HGNC:11720	protein_coding	YES	CCDS8434.1	ENSP00000376543	O75443		UPI000045659D					20/23																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	12	121168926	121168926	G	A	1	0	0	0	0	0	0	1	0	16158	1275	44	3		3	TECTA	11	121168926	Splice_Site	SNP	G	C3L-00144_TP	869200	121168926	13917696	1140	5419											
C11orf63	0	.	GRCh38	chr11	122946704	122946704	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagagagaagccaaagaaAccaagtgaaaattagccgta	19	6	9	7	1	1	4	1	1	0	3	1	5	1	4	3	0	3	1	3	0	8	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1841A>T	p.Asn614Ile	p.N614I	ENST00000227349	6/9	245	193	52	177	177	0	strelka-varscan-mutect	C11orf63,missense_variant,p.Asn614Ile,ENST00000227349,NM_024806.3;C11orf63,missense_variant,p.Asn614Ile,ENST00000531316,;C11orf63,non_coding_transcript_exon_variant,,ENST00000534362,;	T	ENST00000227349	Transcript	missense_variant	2375/3147	1841/2337	614/778	N/I	aAc/aTc		1		1	C11orf63	HGNC	HGNC:26288	protein_coding	YES	CCDS8438.1	ENSP00000227349	Q6NUN7		UPI00001FA5AB	NM_024806.3	tolerated(0.06)		6/9		hmmpanther:PTHR14726,hmmpanther:PTHR14726:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	122946704	122946704	A	T	1	0	0	0	0	1	0	0	0	1790	43	2	4		4	C11orf63	11	122946704	Missense_Mutation	SNP	A	C3L-00144_TP	1777778	122946704	12139918	1141	5420											
C11orf63	0	.	GRCh38	chr11	122957402	122957402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggaatatgcaaaacaaGtcaaggagtacaacatgaag	22	5	9	5	0	1	1	1	1	0	0	1	3	1	3	0	2	4	2	0	2	11	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2050G>T	p.Val684Phe	p.V684F	ENST00000227349	8/9	144	107	37	98	98	0	strelka-varscan-mutect	C11orf63,missense_variant,p.Val684Phe,ENST00000227349,NM_024806.3;C11orf63,missense_variant,p.Val684Phe,ENST00000531316,;ATP5F1P5,upstream_gene_variant,,ENST00000526403,;	T	ENST00000227349	Transcript	missense_variant	2584/3147	2050/2337	684/778	V/F	Gtc/Ttc		1		1	C11orf63	HGNC	HGNC:26288	protein_coding	YES	CCDS8438.1	ENSP00000227349	Q6NUN7		UPI00001FA5AB	NM_024806.3	deleterious(0)		8/9		Pfam_domain:PF15261,hmmpanther:PTHR14726,hmmpanther:PTHR14726:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	122957402	122957402	G	T	1	0	0	0	0	1	0	0	0	1790	1029	36	2		2	C11orf63	11	122957402	Missense_Mutation	SNP	G	C3L-00144_TP	10698	122957402	12129220	1142	5421											
OR10G4	0	.	GRCh38	chr11	124016248	124016248	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatcgtctgttccatccTgcggatccgcacctcagatg	6	11	9	15	3	2	1	1	0	1	1	7	2	6	2	5	1	1	2	5	1	0	1	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.674T>G	p.Leu225Arg	p.L225R	ENST00000320891	1/1	229	179	50	197	197	0	strelka-varscan-mutect	OR10G4,missense_variant,p.Leu225Arg,ENST00000320891,NM_001004462.1;	G	ENST00000320891	Transcript	missense_variant	674/936	674/936	225/311	L/R	cTg/cGg		1		1	OR10G4	HGNC	HGNC:14809	protein_coding	YES	CCDS31702.1	ENSP00000325076	Q8NGN3	A0A126GWS5	UPI0000041BAD	NM_001004462.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF6,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	12	124016248	124016248	T	G	1	0	0	0	0	1	0	0	0	10977	1580	55	5		5	OR10G4	11	124016248	Missense_Mutation	SNP	T	C3L-00144_TP	1058846	124016248	11070374	1143	5422											
OR10G7	0	.	GRCh38	chr11	124038930	124038930	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accaggaagattccaaagagGggggcgtccagccctggggc	10	4	16	11	1	0	2	0	0	0	2	2	3	2	3	4	6	1	0	4	6	2	1	rs4936889		C3L-00144_TP	C3L-00144_NB	G	G																c.72C>T	p.=	p.P24P	ENST00000330487	1/1	213	187	26	177	177	0	varscan-mutect	OR10G7,synonymous_variant,p.=,ENST00000330487,NM_001004463.1;	A	ENST00000330487	Transcript	synonymous_variant	81/945	72/936	24/311	P	ccC/ccT	rs4936889	1		-1	OR10G7	HGNC	HGNC:14842	protein_coding	YES	CCDS31705.1	ENSP00000329689	Q8NGN6	A0A126GWF3	UPI0000040A84	NM_001004463.1			1/1		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF7,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs4936889	.												A	2	1	12	124038930	124038930	G	A	1	0	0	0	0	0	0	0	1	10979	1219	43	3		3	OR10G7	11	124038930	Silent	SNP	G	C3L-00144_TP	22682	124038930	11047692	1144	5423											
OR8B2	0	.	GRCh38	chr11	124383301	124383301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatgatctgttaatccagCaagaataaattcagtcacta	15	12	7	7	0	3	2	2	1	1	1	4	3	4	3	1	1	1	2	1	1	6	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.43G>T	p.Ala15Ser	p.A15S	ENST00000375013	1/1	132	97	35	103	103	0	strelka-varscan-mutect	OR8B2,missense_variant,p.Ala15Ser,ENST00000375013,NM_001005468.1;	A	ENST00000375013	Transcript	missense_variant	62/968	43/942	15/313	A/S	Gct/Tct		1		-1	OR8B2	HGNC	HGNC:8471	protein_coding	YES	CCDS31708.1	ENSP00000364152	Q96RD0	A0A126GVQ4	UPI000004B1E5	NM_001005468.1	tolerated_low_confidence(0.2)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF258,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	12	124383301	124383301	C	A	1	0	0	0	0	1	0	0	0	11297	710	25	2		2	OR8B2	11	124383301	Missense_Mutation	SNP	C	C3L-00144_TP	344371	124383301	10703321	1145	5424											
OR8B8	0	.	GRCh38	chr11	124440928	124440928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataggggtgtgcaagtgaGagttgagccttatcagggtt	10	11	15	5	0	1	2	1	2	0	1	1	3	1	2	1	3	2	3	1	3	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.158C>A	p.Ser53Tyr	p.S53Y	ENST00000328064	1/1	354	263	91	234	234	0	strelka-varscan-mutect	OR8B8,missense_variant,p.Ser53Tyr,ENST00000328064,NM_012378.1;	T	ENST00000328064	Transcript	missense_variant	231/1033	158/936	53/311	S/Y	tCt/tAt		1		-1	OR8B8	HGNC	HGNC:8477	protein_coding	YES	CCDS8446.1	ENSP00000330280	Q15620	A0A126GW73	UPI00000015B1	NM_012378.1	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF214,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	12	124440928	124440928	G	T	1	0	0	0	0	1	0	0	0	11300	942	33	2		2	OR8B8	11	124440928	Missense_Mutation	SNP	G	C3L-00144_TP	57627	124440928	10645694	1146	5425											
OR8B12	0	.	GRCh38	chr11	124542740	124542740	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaagaaaagatttttctGcccaaagttctcctcagggc	11	13	7	10	0	4	2	1	0	3	2	5	2	4	2	2	1	1	1	2	1	4	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.915C>T	p.=	p.G305G	ENST00000306842	1/1	68	50	18	51	51	0	strelka-varscan-mutect	OR8B12,synonymous_variant,p.=,ENST00000306842,NM_001005195.1;RP11-728D14.6,upstream_gene_variant,,ENST00000533869,;	A	ENST00000306842	Transcript	synonymous_variant	940/998	915/933	305/310	G	ggC/ggT		1		-1	OR8B12	HGNC	HGNC:15307	protein_coding	YES	CCDS31711.1	ENSP00000307159	Q8NGG6	A0A126GWS7	UPI0000041E25	NM_001005195.1			1/1		hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF267,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs1379631539	.												A	2	1	12	124542740	124542740	G	A	1	0	0	0	0	0	0	0	1	11296	1306	46	3		3	OR8B12	11	124542740	Silent	SNP	G	C3L-00144_TP	101812	124542740	10543882	1147	5426											
ROBO3	0	.	GRCh38	chr11	124876445	124876445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggaaacagcgcaaagagCtcagccactacacgggtgag	13	3	13	12	3	1	2	1	1	0	1	1	3	1	3	2	2	5	2	2	2	3	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2764C>T	p.Leu922Phe	p.L922F	ENST00000397801	17/28	46	35	11	12	12	0	strelka-mutect	ROBO3,missense_variant,p.Leu922Phe,ENST00000397801,NM_022370.3;ROBO3,missense_variant,p.Leu900Phe,ENST00000538940,;ROBO3,upstream_gene_variant,,ENST00000543966,;ROBO3,upstream_gene_variant,,ENST00000525482,;ROBO3,upstream_gene_variant,,ENST00000528820,;ROBO3,upstream_gene_variant,,ENST00000528144,;ROBO3,upstream_gene_variant,,ENST00000531075,;ROBO3,upstream_gene_variant,,ENST00000526551,;ROBO3,upstream_gene_variant,,ENST00000532472,;ROBO3,upstream_gene_variant,,ENST00000531545,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527196,;ROBO3,upstream_gene_variant,,ENST00000527245,;ROBO3,upstream_gene_variant,,ENST00000529658,;ROBO3,upstream_gene_variant,,ENST00000525448,;ROBO3,upstream_gene_variant,,ENST00000534598,;ROBO3,upstream_gene_variant,,ENST00000524971,;ROBO3,upstream_gene_variant,,ENST00000525304,;ROBO3,upstream_gene_variant,,ENST00000528068,;ROBO3,upstream_gene_variant,,ENST00000531888,;ROBO3,upstream_gene_variant,,ENST00000530647,;ROBO3,upstream_gene_variant,,ENST00000531119,;	T	ENST00000397801	Transcript	missense_variant	2956/4569	2764/4161	922/1386	L/F	Ctc/Ttc		1		1	ROBO3	HGNC	HGNC:13433	protein_coding	YES	CCDS44755.1	ENSP00000380903	Q96MS0		UPI000035AA82	NM_022370.3	deleterious(0.01)		17/28		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF724																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	124876445	124876445	C	T	1	0	0	0	0	1	0	0	0	13693	797	28	3		3	ROBO3	11	124876445	Missense_Mutation	SNP	C	C3L-00144_TP	333705	124876445	10210177	1148	5427											
HEPN1	0	.	GRCh38	chr11	124919992	124919992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctacacagcggcccaGcctctttattttgatgttag	7	13	9	12	1	1	1	0	1	1	0	1	1	1	1	3	2	3	2	3	2	3	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.242G>T	p.Ser81Ile	p.S81I	ENST00000408930	1/1	144	97	47	135	135	0	strelka-varscan-mutect	HEPN1,missense_variant,p.Ser81Ile,ENST00000408930,NM_001037558.2;HEPACAM,3_prime_UTR_variant,,ENST00000298251,NM_152722.4;HEPACAM,downstream_gene_variant,,ENST00000528971,;HEPACAM,downstream_gene_variant,,ENST00000526273,;	T	ENST00000408930	Transcript	missense_variant	749/1434	242/267	81/88	S/I	aGc/aTc		1		1	HEPN1	HGNC	HGNC:34400	protein_coding	YES	CCDS41729.1	ENSP00000386143	Q6WQI6		UPI0000D6269C	NM_001037558.2	deleterious_low_confidence(0.02)		1/1																			MODERATE		SNV				1										PASS		.	.												T	3	4	12	124919992	124919992	G	T	1	0	0	0	0	1	0	0	0	6940	971	34	2		2	HEPN1	11	124919992	Missense_Mutation	SNP	G	C3L-00144_TP	43547	124919992	10166630	1149	5428											
HEPACAM	0	.	GRCh38	chr11	124921229	124921229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgaggcgctgcgcgagCggccgggcgagctcggggcc	3	3	21	14	9	0	0	0	0	0	0	1	3	0	0	2	5	4	2	2	5	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1160G>A	p.Arg387His	p.R387H	ENST00000298251	7/7	196	185	11	125	125	0	strelka-varscan-mutect	HEPACAM,missense_variant,p.Arg387His,ENST00000298251,NM_152722.4;HEPN1,downstream_gene_variant,,ENST00000408930,NM_001037558.2;HEPACAM,downstream_gene_variant,,ENST00000528971,;HEPACAM,downstream_gene_variant,,ENST00000526273,;	T	ENST00000298251	Transcript	missense_variant	1566/3602	1160/1251	387/416	R/H	cGc/cAc		1		-1	HEPACAM	HGNC	HGNC:26361	protein_coding	YES	CCDS8456.1	ENSP00000298251	Q14CZ8		UPI000013E4B5	NM_152722.4	tolerated_low_confidence(0.14)		7/7		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1182107619	.												T	3	4	12	124921229	124921229	C	T	1	0	0	0	0	1	0	0	0	6936	768	27	1		1	HEPACAM	11	124921229	Missense_Mutation	SNP	C	C3L-00144_TP	1237	124921229	10165393	1150	5429											
CCDC15	0	.	GRCh38	chr11	125040599	125040599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttttgcagcatatactcGggcactacattcattcatca	10	16	5	10	1	3	0	3	0	0	0	4	0	3	0	0	1	4	3	0	1	3	8	rs749849352		C3L-00144_TP	C3L-00144_NB	G	G																c.2744G>T	p.Arg915Leu	p.R915L	ENST00000344762	16/16	176	143	33	114	114	0	strelka-varscan-mutect	CCDC15,missense_variant,p.Arg926Leu,ENST00000529051,;CCDC15,missense_variant,p.Arg915Leu,ENST00000344762,NM_025004.2;CCDC15,non_coding_transcript_exon_variant,,ENST00000530061,;CCDC15,downstream_gene_variant,,ENST00000524471,;	T	ENST00000344762	Transcript	missense_variant	3003/3893	2744/2856	915/951	R/L	cGg/cTg	rs749849352	1		1	CCDC15	HGNC	HGNC:25798	protein_coding	YES	CCDS44756.1	ENSP00000341684	Q0P6D6		UPI0000EE3BEA	NM_025004.2	deleterious(0)		16/16		hmmpanther:PTHR14817																	MODERATE	1	SNV	5			1										PASS		rs749849352	.												T	3	4	12	125040599	125040599	G	T	1	0	0	0	0	1	0	0	0	2470	1116	39	1		1	CCDC15	11	125040599	Missense_Mutation	SNP	G	C3L-00144_TP	119370	125040599	10046023	1151	5430											
CDON	0	.	GRCh38	chr11	126010417	126010417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtatttccccgcatgttcCtgagtcacagcctgaatatg	9	13	8	11	1	1	2	1	2	0	0	3	2	3	2	4	0	1	3	4	0	3	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1476G>C	p.Gln492His	p.Q492H	ENST00000392693	8/20	185	156	29	147	147	0	strelka-varscan-mutect	CDON,missense_variant,p.Gln492His,ENST00000392693,NM_001243597.1;CDON,missense_variant,p.Gln492His,ENST00000263577,NM_016952.4;CDON,missense_variant,p.Gln468His,ENST00000534661,;CDON,3_prime_UTR_variant,,ENST00000531830,;CDON,downstream_gene_variant,,ENST00000525625,;	G	ENST00000392693	Transcript	missense_variant	1604/9138	1476/3864	492/1287	Q/H	caG/caC		1		-1	CDON	HGNC	HGNC:17104	protein_coding	YES	CCDS58192.1	ENSP00000376458	Q4KMG0		UPI0000E0013A	NM_001243597.1	tolerated(0.22)		8/20		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF12,hmmpanther:PTHR10489,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	126010417	126010417	C	G	1	0	0	0	0	1	0	0	0	2874	680	24	4		4	CDON	11	126010417	Missense_Mutation	SNP	C	C3L-00144_TP	969818	126010417	9076205	1152	5431											
KCNJ1	0	.	GRCh38	chr11	128839539	128839539	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaattttcattcccagcGtcaactacaaagttgatatt	15	14	4	8	1	2	1	2	1	0	0	3	1	3	1	1	0	3	1	1	0	7	8	rs142030262		C3L-00144_TP	C3L-00144_NB	G	G																c.762C>G	p.Asp254Glu	p.D254E	ENST00000392664	2/2	399	303	96	308	308	0	strelka-varscan-mutect	KCNJ1,missense_variant,p.Asp235Glu,ENST00000392665,;KCNJ1,missense_variant,p.Asp235Glu,ENST00000392666,NM_153766.2,NM_153764.2;KCNJ1,missense_variant,p.Asp235Glu,ENST00000324036,NM_153767.3;KCNJ1,missense_variant,p.Asp235Glu,ENST00000440599,NM_153765.2;KCNJ1,missense_variant,p.Asp254Glu,ENST00000392664,NM_000220.4;KCNJ1,downstream_gene_variant,,ENST00000324003,;KCNJ1,downstream_gene_variant,,ENST00000531562,;	C	ENST00000392664	Transcript	missense_variant	879/1674	762/1176	254/391	D/E	gaC/gaG	rs142030262	1		-1	KCNJ1	HGNC	HGNC:6255	protein_coding	YES	CCDS8476.1	ENSP00000376432	P48048		UPI000012D891	NM_000220.4	deleterious(0.04)		2/2		hmmpanther:PTHR11767:SF6,hmmpanther:PTHR11767,Gene3D:2.60.40.1400,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296,Prints_domain:PR01321																	MODERATE	1	SNV	1			1										PASS		rs142030262	.												C	3	2	12	128839539	128839539	G	C	1	0	0	0	0	1	0	0	0	7959	1136	40	4		4	KCNJ1	11	128839539	Missense_Mutation	SNP	G	C3L-00144_TP	2829122	128839539	6247083	1153	5432											
ARHGAP32	0	.	GRCh38	chr11	129064876	129064876	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggcccacagttgatctTgttgccagcgatagctgaaa	9	9	13	10	2	1	2	0	2	1	0	1	3	1	2	2	2	3	3	2	2	2	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.685A>G	p.Lys229Glu	p.K229E	ENST00000310343	7/22	320	255	65	206	205	1	strelka-varscan-mutect	ARHGAP32,missense_variant,p.Lys229Glu,ENST00000310343,NM_001142685.1;ARHGAP32,missense_variant,p.Lys155Glu,ENST00000524655,;ARHGAP32,downstream_gene_variant,,ENST00000525234,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000533509,;	C	ENST00000310343	Transcript	missense_variant	685/10111	685/6264	229/2087	K/E	Aag/Gag		1		-1	ARHGAP32	HGNC	HGNC:17399	protein_coding	YES	CCDS44769.1	ENSP00000310561	A7KAX9		UPI000159C61F	NM_001142685.1	deleterious(0.02)		7/22		hmmpanther:PTHR15729:SF9,hmmpanther:PTHR15729,Superfamily_domains:SSF64268																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	129064876	129064876	T	C	1	0	0	0	0	1	0	0	0	1006	1821	63	5		5	ARHGAP32	11	129064876	Missense_Mutation	SNP	T	C3L-00144_TP	225337	129064876	6021746	1154	5433											
ADAMTS8	0	.	GRCh38	chr11	130416214	130416214	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcgctgcagggggaccAgggcagcgtctggttcaggt	6	7	18	10	2	2	0	1	0	1	0	2	1	2	1	1	6	2	4	1	6	0	1	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1213T>A	p.Trp405Arg	p.W405R	ENST00000257359	4/9	146	124	22	133	133	0	strelka-varscan-mutect	ADAMTS8,missense_variant,p.Trp405Arg,ENST00000257359,NM_007037.4;ADAMTS8,upstream_gene_variant,,ENST00000531752,;	T	ENST00000257359	Transcript	missense_variant	1920/4010	1213/2670	405/889	W/R	Tgg/Agg		1		-1	ADAMTS8	HGNC	HGNC:224	protein_coding	YES	CCDS41732.1	ENSP00000257359	Q9UP79		UPI000013CF5D	NM_007037.4	deleterious(0)		4/9		PROSITE_profiles:PS50215,hmmpanther:PTHR13723:SF41,hmmpanther:PTHR13723,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486,Prints_domain:PR01861																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	130416214	130416214	A	T	1	0	0	0	0	1	0	0	0	316	188	7	4		4	ADAMTS8	11	130416214	Missense_Mutation	SNP	A	C3L-00144_TP	1351338	130416214	4670408	1155	5434											
ADAMTS15	0	.	GRCh38	chr11	130473185	130473185	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcaagtacctgctcaacggGcatttcgtggtgtcggcggt	6	10	15	10	4	1	0	1	0	0	0	3	0	1	0	1	5	3	4	1	5	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2217G>T	p.=	p.G739G	ENST00000299164	8/8	399	325	74	318	317	1	strelka-varscan-mutect	ADAMTS15,synonymous_variant,p.=,ENST00000299164,NM_139055.2;	T	ENST00000299164	Transcript	synonymous_variant	2217/5673	2217/2853	739/950	G	ggG/ggT		1		1	ADAMTS15	HGNC	HGNC:16305	protein_coding	YES	CCDS8488.1	ENSP00000299164	Q8TE58		UPI000004F277	NM_139055.2			8/8		Pfam_domain:PF05986,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF39																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	130473185	130473185	G	T	1	0	0	0	0	0	0	0	1	304	1190	42	2		2	ADAMTS15	11	130473185	Silent	SNP	G	C3L-00144_TP	56971	130473185	4613437	1156	5435											
ADAMTS15	0	.	GRCh38	chr11	130473512	130473512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgctgggtggctggcagctgGgggccgtgctccgcgagctg	2	7	20	12	4	0	0	0	0	0	0	1	1	1	0	2	5	3	6	2	5	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2544G>T	p.Trp848Cys	p.W848C	ENST00000299164	8/8	99	81	18	81	81	0	strelka-varscan-mutect	ADAMTS15,missense_variant,p.Trp848Cys,ENST00000299164,NM_139055.2;	T	ENST00000299164	Transcript	missense_variant	2544/5673	2544/2853	848/950	W/C	tgG/tgT		1		1	ADAMTS15	HGNC	HGNC:16305	protein_coding	YES	CCDS8488.1	ENSP00000299164	Q8TE58		UPI000004F277	NM_139055.2	deleterious(0)		8/8		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF39,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	130473512	130473512	G	T	1	0	0	0	0	1	0	0	0	304	1241	43	2		2	ADAMTS15	11	130473512	Missense_Mutation	SNP	G	C3L-00144_TP	327	130473512	4613110	1157	5436											
CACNA1C	0	.	GRCh38	chr12	2601884	2601884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggggctttcttgcacaagGgttctttctgccggaactac	7	13	11	10	1	3	0	0	0	3	0	3	1	3	1	1	4	4	3	1	4	3	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2944G>T	p.Gly982Cys	p.G982C	ENST00000347598	23/49	207	188	19	198	198	0	strelka-varscan-mutect	CACNA1C,missense_variant,p.Gly962Cys,ENST00000399655,NM_000719.6;CACNA1C,missense_variant,p.Gly962Cys,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Gly962Cys,ENST00000406454,;CACNA1C,missense_variant,p.Gly962Cys,ENST00000399617,NM_001167624.2;CACNA1C,missense_variant,p.Gly962Cys,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Gly987Cys,ENST00000335762,;CACNA1C,missense_variant,p.Gly962Cys,ENST00000480911,;CACNA1C,missense_variant,p.Gly982Cys,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,missense_variant,p.Gly962Cys,ENST00000344100,NM_001129829.1;CACNA1C,missense_variant,p.Gly962Cys,ENST00000327702,NM_001129830.2;CACNA1C,missense_variant,p.Gly962Cys,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Gly982Cys,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Gly962Cys,ENST00000399621,NM_001129834.1;CACNA1C,missense_variant,p.Gly962Cys,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Gly962Cys,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Gly962Cys,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Gly962Cys,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,missense_variant,p.Gly962Cys,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Gly962Cys,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Gly962Cys,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,missense_variant,p.Gly962Cys,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Gly962Cys,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Gly962Cys,ENST00000399644,NM_001129841.1;CACNA1C-AS3,downstream_gene_variant,,ENST00000543559,;	T	ENST00000347598	Transcript	missense_variant	2944/6655	2944/6561	982/2186	G/C	Ggt/Tgt		1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3	deleterious(0.01)		23/49		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	2601884	2601884	G	T	1	0	0	0	0	1	0	0	0	2228	1232	43	2		2	CACNA1C	12	2601884	Missense_Mutation	SNP	G	C3L-00144_TP		2601884	130673425	1158	5437											
RP4-816N1.8	0	.	GRCh38	chr12	2854928	2854928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcggctggatgttgccCtgggcatcgagtgggggtgc	3	9	20	9	2	0	0	0	0	0	0	1	2	0	1	1	6	2	4	1	6	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.591G>T	p.Gln197His	p.Q197H	ENST00000637658	2/3	92	79	13	88	87	1	strelka-varscan-mutect	RP4-816N1.8,missense_variant,p.Gln197His,ENST00000637658,;FOXM1,downstream_gene_variant,,ENST00000627656,NM_001243088.1;FOXM1,downstream_gene_variant,,ENST00000342628,NM_202002.2;FOXM1,downstream_gene_variant,,ENST00000361953,NM_202003.2,NM_001243089.1;FOXM1,downstream_gene_variant,,ENST00000359843,NM_021953.3;FOXM1,downstream_gene_variant,,ENST00000535350,;ITFG2,intron_variant,,ENST00000537710,;ITFG2,upstream_gene_variant,,ENST00000545509,;ITFG2,upstream_gene_variant,,ENST00000540300,;FOXM1,downstream_gene_variant,,ENST00000536066,;	A	ENST00000637658	Transcript	missense_variant	648/1167	591/918	197/305	Q/H	caG/caT		1		-1	RP4-816N1.8	Clone_based_vega_gene		protein_coding	YES		ENSP00000489863	A6NCN8		UPI00017BE937		tolerated(0.77)		2/3		Pfam_domain:PF15046,hmmpanther:PTHR35156,hmmpanther:PTHR35156:SF1																	MODERATE		SNV				1										PASS		.	.												A	3	1	12	2854928	2854928	C	A	1	0	0	0	0	1	0	0	0	13779	680	24	2		2	RP4-816N1.8	12	2854928	Missense_Mutation	SNP	C	C3L-00144_TP	253044	2854928	130420381	1159	5438											
CCND2	0	.	GRCh38	chr12	4278907	4278907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcagaccttcattgctCtgtgtgccaccggtaagatg	8	12	10	11	1	3	2	2	0	1	2	3	2	3	2	3	1	3	3	3	1	1	3	rs751104155		C3L-00144_TP	C3L-00144_NB	C	C																c.559C>A	p.Leu187Met	p.L187M	ENST00000261254	3/5	78	67	11	68	68	0	strelka-varscan-mutect	CCND2,missense_variant,p.Leu187Met,ENST00000261254,NM_001759.3;CCND2,missense_variant,p.Leu103Met,ENST00000536537,;CCND2-AS1,upstream_gene_variant,,ENST00000539135,;CCND2-AS2,upstream_gene_variant,,ENST00000537370,;CCND2,non_coding_transcript_exon_variant,,ENST00000541542,;CCND2,non_coding_transcript_exon_variant,,ENST00000536795,;	A	ENST00000261254	Transcript	missense_variant	828/6480	559/870	187/289	L/M	Ctg/Atg	rs751104155,COSM324944	1		1	CCND2	HGNC	HGNC:1583	protein_coding	YES	CCDS8524.1	ENSP00000261254	P30279		UPI00001275C5	NM_001759.3	deleterious(0.03)		3/5		hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF66,Gene3D:1.10.472.10,Pfam_domain:PF02984,SMART_domains:SM01332,Superfamily_domains:SSF47954											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs751104155	.												A	3	1	12	4278907	4278907	C	A	1	0	0	0	0	1	0	0	0	2616	912	32	2		2	CCND2	12	4278907	Missense_Mutation	SNP	C	C3L-00144_TP	1423979	4278907	128996402	1160	5439											
GALNT8	0	.	GRCh38	chr12	4810420	4810420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agatccgcttctaccagctgGgggacgaggccctggcggcc	6	6	15	14	3	1	1	0	0	1	1	2	3	2	2	4	5	2	2	4	5	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.379G>T	p.Gly127Trp	p.G127W	ENST00000280684	1/1	156	135	21	153	152	1	strelka-varscan-mutect	GALNT8,missense_variant,p.Gly127Trp,ENST00000433855,NM_002235.3;KCNA6,missense_variant,p.Gly127Trp,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;	T	ENST00000280684	Transcript	missense_variant	1245/4237	379/1590	127/529	G/W	Ggg/Tgg		1		1	KCNA6	HGNC	HGNC:6225	protein_coding	YES	CCDS8534.1	ENSP00000280684	P17658		UPI00001279AD		deleterious(0)		1/1		Gene3D:3.30.710.10,Pfam_domain:PF02214,Prints_domain:PR01496,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF104,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE		SNV				1										PASS		.	.												T	3	4	12	4810420	4810420	G	T	1	0	0	0	0	1	0	0	0	6090	1232	43	2		2	GALNT8	12	4810420	Missense_Mutation	SNP	G	C3L-00144_TP	531513	4810420	128464889	1161	5440											
KCNA5	0	.	GRCh38	chr12	5045551	5045551	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccatttctctagcatcccTgacgccttctggtgggcagt	6	12	9	14	1	2	1	0	1	2	0	4	1	3	1	3	2	1	2	3	2	1	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1404T>C	p.=	p.P468P	ENST00000252321	1/1	374	305	69	299	299	0	strelka-varscan-mutect	KCNA5,synonymous_variant,p.=,ENST00000252321,NM_002234.3;	C	ENST00000252321	Transcript	synonymous_variant	1563/2800	1404/1842	468/613	P	ccT/ccC		1		1	KCNA5	HGNC	HGNC:6224	protein_coding	YES	CCDS8536.1	ENSP00000252321	P22460		UPI000013CD56	NM_002234.3			1/1		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25,Superfamily_domains:SSF81324																	LOW	1	SNV				1										PASS		.	.												C	2	2	12	5045551	5045551	T	C	1	0	0	0	0	0	0	0	1	7922	1567	55	5		5	KCNA5	12	5045551	Silent	SNP	T	C3L-00144_TP	235131	5045551	128229758	1162	5441											
VWF	0	.	GRCh38	chr12	5983163	5983163	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttaccgcaggtgaagttGggtctgcactcgccagggtt	6	10	14	11	2	1	1	0	1	1	0	2	1	1	1	3	3	2	4	3	3	2	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.7068C>A	p.=	p.P2356P	ENST00000261405	41/52	387	317	70	318	318	0	strelka-varscan-mutect	VWF,synonymous_variant,p.=,ENST00000261405,NM_000552.3;	T	ENST00000261405	Transcript	synonymous_variant	7323/8838	7068/8442	2356/2813	P	ccC/ccA		1		-1	VWF	HGNC	HGNC:12726	protein_coding	YES	CCDS8539.1	ENSP00000261405	P04275		UPI00001AE7EE	NM_000552.3			41/52		PIRSF_domain:PIRSF002495																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	5983163	5983163	G	T	1	0	0	0	0	0	0	0	1	17806	1335	47	2		2	VWF	12	5983163	Silent	SNP	G	C3L-00144_TP	937612	5983163	127292146	1163	5442											
ACSM4	0	.	GRCh38	chr12	7324354	7324354	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtgatggacagtgatgggTatttctggtttgtcggcaga	8	13	16	4	1	1	3	0	2	1	1	2	5	1	4	0	4	0	3	0	4	1	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1390T>A	p.Tyr464Asn	p.Y464N	ENST00000399422	10/13	266	241	25	212	212	0	strelka-varscan-mutect	ACSM4,missense_variant,p.Tyr464Asn,ENST00000399422,NM_001080454.1;	A	ENST00000399422	Transcript	missense_variant	1438/2142	1390/1743	464/580	Y/N	Tat/Aat		1		1	ACSM4	HGNC	HGNC:32016	protein_coding	YES	CCDS44825.1	ENSP00000382349	P0C7M7		UPI0000DD812A	NM_001080454.1	deleterious(0.01)		10/13		hmmpanther:PTHR24095:SF127,hmmpanther:PTHR24095,Pfam_domain:PF00501,Gene3D:2.30.38.10,Superfamily_domains:SSF56801																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	7324354	7324354	T	A	1	0	0	0	0	1	0	0	0	228	1638	57	4		4	ACSM4	12	7324354	Missense_Mutation	SNP	T	C3L-00144_TP	1341191	7324354	125950955	1164	5443											
CD163L1	0	.	GRCh38	chr12	7403804	7403804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaattctcacctctactctcCctgaacaattgttacttcca	10	14	3	14	0	3	1	1	1	3	0	6	2	4	1	3	0	3	1	3	0	5	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1169G>T	p.Gly390Val	p.G390V	ENST00000416109	6/20	186	155	31	188	188	0	strelka-varscan-mutect	CD163L1,missense_variant,p.Gly380Val,ENST00000313599,NM_174941.5;CD163L1,missense_variant,p.Gly390Val,ENST00000416109,NM_001297650.1;CD163L1,missense_variant,p.Gly26Val,ENST00000545926,;	A	ENST00000416109	Transcript	missense_variant	1188/4603	1169/4392	390/1463	G/V	gGg/gTg		1		-1	CD163L1	HGNC	HGNC:30375	protein_coding	YES	CCDS73434.1	ENSP00000393474	Q9NR16		UPI0001AE6A76	NM_001297650.1	deleterious(0)		6/20		PROSITE_profiles:PS50287,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	7403804	7403804	C	A	1	0	0	0	0	1	0	0	0	2671	623	22	2		2	CD163L1	12	7403804	Missense_Mutation	SNP	C	C3L-00144_TP	79450	7403804	125871505	1165	5444											
CD163	0	.	GRCh38	chr12	7495273	7495273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatcccagctgcctgcaaaCcacatcagcttctttcagtc	10	10	5	16	0	3	0	2	0	1	0	5	0	4	0	3	0	5	3	3	0	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1228G>T	p.Val410Phe	p.V410F	ENST00000359156	6/17	525	447	78	426	426	0	strelka-varscan-mutect	CD163,missense_variant,p.Val410Phe,ENST00000359156,NM_004244.5;CD163,missense_variant,p.Val410Phe,ENST00000396620,;CD163,missense_variant,p.Val410Phe,ENST00000432237,NM_203416.3;CD163,missense_variant,p.Val398Phe,ENST00000541972,;CD163,non_coding_transcript_exon_variant,,ENST00000537044,;	A	ENST00000359156	Transcript	missense_variant	1431/4268	1228/3471	410/1156	V/F	Gtt/Ttt		1		-1	CD163	HGNC	HGNC:1631	protein_coding	YES	CCDS8578.1	ENSP00000352071	Q86VB7		UPI00004565CC	NM_004244.5	deleterious(0)		6/17		Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_profiles:PS50287,SMART_domains:SM00202,Superfamily_domains:SSF56487																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	7495273	7495273	C	A	1	0	0	0	0	1	0	0	0	2670	507	18	2		2	CD163	12	7495273	Missense_Mutation	SNP	C	C3L-00144_TP	91469	7495273	125780036	1166	5445											
PRB3	0	.	GRCh38	chr12	11267869	11267869	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaccttgggactggtttcctCcttgtgggggtggtccttct	2	15	14	10	0	1	0	0	0	1	0	4	2	4	1	4	5	0	1	4	5	0	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.380G>C	p.Gly127Ala	p.G127A	ENST00000538488	3/4	74	56	18	70	70	0	varscan-mutect	PRB3,missense_variant,p.Gly127Ala,ENST00000538488,NM_006249.5;PRB3,missense_variant,p.Gly127Ala,ENST00000381842,;PRB3,non_coding_transcript_exon_variant,,ENST00000539835,;	G	ENST00000538488	Transcript	missense_variant	516/1283	380/1056	127/351	G/A	gGa/gCa		1		-1	PRB3	HGNC	HGNC:9339	protein_coding	YES		ENSP00000442626		F5H7C1	UPI00002371BA	NM_006249.5	tolerated(0.64)		3/4		Low_complexity_(Seg):seg,hmmpanther:PTHR23203:SF2,hmmpanther:PTHR23203,Pfam_domain:PF15240,Pfam_domain:PF15240,Pfam_domain:PF15240,SMART_domains:SM01412																	MODERATE	1	SNV	5			1										PASS		rs1428858364	.												G	3	3	12	11267869	11267869	C	G	1	0	0	0	0	1	0	0	0	12575	855	30	4		4	PRB3	12	11267869	Missense_Mutation	SNP	C	C3L-00144_TP	3772596	11267869	122007440	1167	5446											
GRIN2B	0	.	GRCh38	chr12	13608651	13608651	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacatattcctcttggatCatgaaggcagctaagttggc	10	12	9	10	0	2	1	1	1	1	0	4	2	4	2	2	3	1	3	2	3	3	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1962G>T	p.Met654Ile	p.M654I	ENST00000609686	9/13	402	347	55	379	375	4	strelka-varscan-mutect	GRIN2B,missense_variant,p.Met654Ile,ENST00000609686,NM_000834.3;GRIN2B,missense_variant,p.Met7Ile,ENST00000637214,;GRIN2B,non_coding_transcript_exon_variant,,ENST00000628166,;	A	ENST00000609686	Transcript	missense_variant	2416/30355	1962/4455	654/1484	M/I	atG/atT		1		-1	GRIN2B	HGNC	HGNC:4586	protein_coding	YES	CCDS8662.1	ENSP00000477455	Q13224		UPI000013026C	NM_000834.3	deleterious(0.01)		9/13		Gene3D:1.10.287.70,Pfam_domain:PF00060,Prints_domain:PR00177,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF192,SMART_domains:SM00079																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	13608651	13608651	C	A	1	0	0	0	0	1	0	0	0	6662	826	29	2		2	GRIN2B	12	13608651	Missense_Mutation	SNP	C	C3L-00144_TP	2340782	13608651	119666658	1168	5447											
PTPRO	0	.	GRCh38	chr12	15526161	15526161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaacacgcaatgtcatgaCtgcaattctcagcttgcctc	10	11	8	12	1	2	1	2	1	1	0	4	1	2	1	1	1	4	4	1	1	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2063C>A	p.Thr688Asn	p.T688N	ENST00000281171	12/27	400	363	37	368	368	0	strelka-varscan-mutect	PTPRO,missense_variant,p.Thr688Asn,ENST00000281171,NM_030667.2;PTPRO,missense_variant,p.Thr688Asn,ENST00000348962,NM_002848.3;	A	ENST00000281171	Transcript	missense_variant	2393/5301	2063/3651	688/1216	T/N	aCt/aAt		1		1	PTPRO	HGNC	HGNC:9678	protein_coding	YES	CCDS8675.1	ENSP00000281171	Q16827		UPI000013DC62	NM_030667.2	tolerated(0.29)		12/27		PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF315,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	15526161	15526161	C	A	1	0	0	0	0	1	0	0	0	12963	565	20	2		2	PTPRO	12	15526161	Missense_Mutation	SNP	C	C3L-00144_TP	1917510	15526161	117749148	1169	5448											
SLC15A5	0	.	GRCh38	chr12	16272721	16272721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttggtatgttgttaactgCatggtaagtgcccagataga	10	15	11	5	0	0	2	0	0	0	2	0	2	0	2	1	2	3	5	1	2	4	7	rs764937676		C3L-00144_TP	C3L-00144_NB	C	C																c.424G>T	p.Ala142Ser	p.A142S	ENST00000344941	2/9	416	330	86	340	340	0	strelka-varscan-mutect	SLC15A5,missense_variant,p.Ala142Ser,ENST00000344941,NM_001170798.1;	A	ENST00000344941	Transcript	missense_variant	424/2923	424/1740	142/579	A/S	Gca/Tca	rs764937676	1		-1	SLC15A5	HGNC	HGNC:33455	protein_coding	YES		ENSP00000340402	A6NIM6		UPI0000DD8132	NM_001170798.1	deleterious(0.01)		2/9		Pfam_domain:PF00854,hmmpanther:PTHR11654,hmmpanther:PTHR11654:SF91,Superfamily_domains:SSF103473																	MODERATE	1	SNV	5			1										PASS		rs764937676	.												A	3	1	12	16272721	16272721	C	A	1	0	0	0	0	1	0	0	0	14667	710	25	2		2	SLC15A5	12	16272721	Missense_Mutation	SNP	C	C3L-00144_TP	746560	16272721	117002588	1170	5449											
SLCO1C1	0	.	GRCh38	chr12	20723254	20723254	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggccaactttgtgatcGgtatgctcatctgcctttca	7	13	9	12	1	3	1	2	1	1	0	4	1	3	1	3	2	3	2	3	2	2	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1186G>C	p.Gly396Arg	p.G396R	ENST00000545604	10/16	220	178	42	245	245	0	strelka-varscan-mutect	SLCO1C1,missense_variant,p.Gly396Arg,ENST00000266509,NM_017435.4;SLCO1C1,missense_variant,p.Gly278Arg,ENST00000545102,NM_001145944.1;SLCO1C1,missense_variant,p.Gly396Arg,ENST00000545604,NM_001145946.1;SLCO1C1,missense_variant,p.Gly347Arg,ENST00000540354,NM_001145945.1;SLCO1C1,splice_region_variant,,ENST00000539415,;	C	ENST00000545604	Transcript	missense_variant,splice_region_variant	1416/2557	1186/2193	396/730	G/R	Ggg/Cgg		1		1	SLCO1C1	HGNC	HGNC:13819	protein_coding	YES	CCDS53757.1	ENSP00000444149	Q9NYB5		UPI00004C3E1B	NM_001145946.1	deleterious(0)		10/16		hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF99,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		rs1391930843	.												C	3	2	12	20723254	20723254	G	C	1	0	0	0	0	1	0	0	0	15012	1130	39	4		4	SLCO1C1	12	20723254	Missense_Mutation	SNP	G	C3L-00144_TP	4450533	20723254	112552055	1171	5450											
ABCC9	0	.	GRCh38	chr12	21882831	21882831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgattgctcatagctgtccaGgtgatatcttccaggctgtt	7	15	10	9	0	2	2	1	2	1	0	4	2	4	2	2	2	2	4	2	2	2	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1954C>A	p.Leu652Met	p.L652M	ENST00000261200	14/38	241	204	37	224	224	0	strelka-varscan-mutect	ABCC9,missense_variant,p.Leu652Met,ENST00000261200,NM_020297.3;ABCC9,missense_variant,p.Leu652Met,ENST00000261201,NM_005691.3;ABCC9,intron_variant,,ENST00000544039,;RP11-729I10.2,intron_variant,,ENST00000539874,;	T	ENST00000261200	Transcript	missense_variant	1954/8293	1954/4650	652/1549	L/M	Ctg/Atg		1		-1	ABCC9	HGNC	HGNC:60	protein_coding	YES	CCDS8693.1	ENSP00000261200	O60706		UPI000013D13F	NM_020297.3	tolerated(0.39)		14/38																			MODERATE		SNV	5			1										PASS		.	.												T	3	4	12	21882831	21882831	G	T	1	0	0	0	0	1	0	0	0	63	991	35	2		2	ABCC9	12	21882831	Missense_Mutation	SNP	G	C3L-00144_TP	1159577	21882831	111392478	1172	5451											
ITPR2	0	.	GRCh38	chr12	26561823	26561823	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaagagcttccttaaagCgtggcccagagcgagctgat	10	8	11	12	2	0	3	0	1	0	2	2	4	2	3	3	1	4	2	3	1	3	2	rs774885630		C3L-00144_TP	C3L-00144_NB	C	C																c.4760G>C	p.Arg1587Pro	p.R1587P	ENST00000381340	35/57	400	349	51	317	317	0	strelka-varscan-mutect	ITPR2,missense_variant,p.Arg1587Pro,ENST00000381340,NM_002223.2;	G	ENST00000381340	Transcript	missense_variant	5177/11405	4760/8106	1587/2701	R/P	cGc/cCc	rs774885630,COSM4206232	1		-1	ITPR2	HGNC	HGNC:6181	protein_coding	YES	CCDS41764.1	ENSP00000370744	Q14571		UPI00001FB7D2	NM_002223.2	deleterious(0)		35/57		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF53,Superfamily_domains:SSF48371											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs774885630	.												G	3	3	12	26561823	26561823	C	G	1	0	0	0	0	1	0	0	0	7827	768	27	4		4	ITPR2	12	26561823	Missense_Mutation	SNP	C	C3L-00144_TP	4678992	26561823	106713486	1173	5452											
OVCH1	0	.	GRCh38	chr12	29471854	29471854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggttgatgatggcacCtccacattggtaatcgccta	9	11	10	11	1	0	2	0	2	0	0	2	2	1	2	3	3	0	3	3	3	2	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1804G>T	p.Gly602Cys	p.G602C	ENST00000318184	16/28	239	207	32	243	243	0	strelka-varscan-mutect	OVCH1,missense_variant,p.Gly602Cys,ENST00000318184,NM_183378.2;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;	A	ENST00000318184	Transcript	missense_variant	1804/3405	1804/3405	602/1134	G/C	Ggt/Tgt		1		-1	OVCH1	HGNC	HGNC:23080	protein_coding	YES		ENSP00000326708	Q7RTY7		UPI000040640A	NM_183378.2	deleterious(0)		16/28		Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24251,hmmpanther:PTHR24251:SF17,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	2			1										PASS		rs1385011999	.												A	3	1	12	29471854	29471854	C	A	1	0	0	0	0	1	0	0	0	11393	681	24	2		2	OVCH1	12	29471854	Missense_Mutation	SNP	C	C3L-00144_TP	2910031	29471854	103803455	1174	5453											
DENND5B	0	.	GRCh38	chr12	31409355	31409355	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctctttcttcttcgcaaCgtagaaaagcatatcgctta	10	14	6	11	3	3	1	0	0	3	1	6	1	3	1	0	0	2	5	0	0	6	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2816G>T	p.Arg939Leu	p.R939L	ENST00000536562	16/23	84	70	14	72	72	0	strelka-varscan-mutect	DENND5B,missense_variant,p.Arg904Leu,ENST00000389082,NM_144973.3;DENND5B,missense_variant,p.Arg939Leu,ENST00000536562,NM_001308339.1;	A	ENST00000536562	Transcript	missense_variant	2967/4291	2816/3930	939/1309	R/L	cGt/cTt		1		-1	DENND5B	HGNC	HGNC:28338	protein_coding	YES	CCDS76542.1	ENSP00000444889		G3V1S3	UPI0000D621CB	NM_001308339.1	tolerated(0.13)		16/23		PROSITE_profiles:PS50826,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF45,Pfam_domain:PF02759,SMART_domains:SM00593,Superfamily_domains:0052343																	MODERATE	1	SNV	2			1										PASS		rs1276257487	.												A	3	1	12	31409355	31409355	C	A	1	0	0	0	0	1	0	0	0	4241	536	19	1		1	DENND5B	12	31409355	Missense_Mutation	SNP	C	C3L-00144_TP	1937501	31409355	101865954	1175	5454											
PKP2	0	.	GRCh38	chr12	32792493	32792493	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcttcttaaactgagcCtttggaataagcaaacagaa	14	12	7	8	0	3	2	0	1	3	1	3	3	3	3	1	1	4	1	1	1	6	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2578-1G>T		p.X860_splice	ENST00000070846		683	612	71	580	579	1	strelka-varscan-mutect	PKP2,splice_acceptor_variant,,ENST00000340811,NM_001005242.2;PKP2,splice_acceptor_variant,,ENST00000070846,NM_004572.3;PKP2,splice_acceptor_variant,,ENST00000546769,;	A	ENST00000070846	Transcript	splice_acceptor_variant	-/4241	2578/2646	860/881				1		-1	PKP2	HGNC	HGNC:9024	protein_coding	YES	CCDS8731.1	ENSP00000070846	Q99959		UPI000013C576	NM_004572.3				13/13																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	12	32792493	32792493	C	A	1	0	0	0	0	0	0	1	0	12081	695	24	2		2	PKP2	12	32792493	Splice_Site	SNP	C	C3L-00144_TP	1383138	32792493	100482816	1176	5455											
C12orf40	0	.	GRCh38	chr12	39721077	39721077	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgcaaggtgtgatgcaggGatacaaacagagagtgaatc	14	7	14	6	0	0	3	0	2	0	1	1	5	0	4	0	2	4	3	0	2	4	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1785G>T	p.=	p.G595G	ENST00000324616	13/13	415	328	87	422	420	2	strelka-varscan-mutect	C12orf40,synonymous_variant,p.=,ENST00000324616,NM_001031748.2;C12orf40,intron_variant,,ENST00000468200,;	T	ENST00000324616	Transcript	synonymous_variant	1939/2776	1785/1959	595/652	G	ggG/ggT		1		1	C12orf40	HGNC	HGNC:26846	protein_coding	YES	CCDS41770.1	ENSP00000317671	Q86WS4		UPI000069A925	NM_001031748.2			13/13		hmmpanther:PTHR35158:SF1,hmmpanther:PTHR35158,Pfam_domain:PF15089																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	39721077	39721077	G	T	1	0	0	0	0	0	0	0	1	1809	1161	41	2		2	C12orf40	12	39721077	Silent	SNP	G	C3L-00144_TP	6928584	39721077	93554232	1177	5456											
SLC2A13	0	.	GRCh38	chr12	39951300	39951300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggaacatttgtaggcCacaacccacaattaaagctc	13	9	7	12	0	0	0	0	0	0	0	1	1	0	1	2	2	4	3	2	2	6	3	rs543033286		C3L-00144_TP	C3L-00144_NB	C	C																c.991G>T	p.Gly331Cys	p.G331C	ENST00000280871	4/10	227	208	19	189	188	1	strelka-varscan-mutect	SLC2A13,missense_variant,p.Gly331Cys,ENST00000280871,NM_052885.3;SLC2A13,missense_variant,p.Gly331Cys,ENST00000380858,;	A	ENST00000280871	Transcript	missense_variant	1042/7003	991/1947	331/648	G/C	Ggc/Tgc	rs543033286	1		-1	SLC2A13	HGNC	HGNC:15956	protein_coding	YES	CCDS8736.2	ENSP00000280871	Q96QE2		UPI000066D913	NM_052885.3	tolerated(0.07)		4/10		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR23500,hmmpanther:PTHR23500:SF89,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs543033286	.												A	3	1	12	39951300	39951300	C	A	1	0	0	0	0	1	0	0	0	14812	594	21	2		2	SLC2A13	12	39951300	Missense_Mutation	SNP	C	C3L-00144_TP	230223	39951300	93324009	1178	5457											
CNTN1	0	.	GRCh38	chr12	40933704	40933704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctatttaaagtcctgttCcggatatccgatggcggaag	9	13	10	9	3	1	0	0	0	1	0	4	3	4	2	3	3	0	1	3	3	5	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.811C>T	p.Pro271Ser	p.P271S	ENST00000551295	9/24	231	203	28	202	202	0	strelka-varscan-mutect	CNTN1,missense_variant,p.Pro271Ser,ENST00000551295,NM_001843.3;CNTN1,missense_variant,p.Pro271Ser,ENST00000347616,;CNTN1,missense_variant,p.Pro260Ser,ENST00000348761,NM_175038.2;CNTN1,missense_variant,p.Pro271Ser,ENST00000547849,NM_001256064.1;CNTN1,missense_variant,p.Pro271Ser,ENST00000547702,NM_001256063.1;	T	ENST00000551295	Transcript	missense_variant	928/5557	811/3057	271/1018	P/S	Ccg/Tcg		1		1	CNTN1	HGNC	HGNC:2171	protein_coding	YES	CCDS8737.1	ENSP00000447006	Q12860	A0A024R104	UPI0000127EBA	NM_001843.3	deleterious(0)		9/24		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	40933704	40933704	C	T	1	0	0	0	0	1	0	0	0	3421	855	30	3		3	CNTN1	12	40933704	Missense_Mutation	SNP	C	C3L-00144_TP	982404	40933704	92341605	1179	5458											
PDZRN4	0	.	GRCh38	chr12	41563562	41563562	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctagataaatggggaagaTgtccagaatcgagaagaagc	16	8	12	5	1	1	5	0	0	1	5	3	7	2	6	1	2	1	0	1	2	7	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1380T>C	p.=	p.D460D	ENST00000402685	8/10	182	162	20	159	159	0	strelka-varscan-mutect	PDZRN4,synonymous_variant,p.=,ENST00000298919,;PDZRN4,synonymous_variant,p.=,ENST00000402685,NM_001164595.1;PDZRN4,synonymous_variant,p.=,ENST00000539469,NM_013377.3;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;	C	ENST00000402685	Transcript	synonymous_variant	1388/3347	1380/3111	460/1036	D	gaT/gaC		1		1	PDZRN4	HGNC	HGNC:30552	protein_coding	YES	CCDS53777.1	ENSP00000384197	Q6ZMN7		UPI0000D621D0	NM_001164595.1			8/10		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR15545,hmmpanther:PTHR15545:SF6,SMART_domains:SM00228,Superfamily_domains:SSF50156																	LOW	1	SNV	2			1										PASS		rs1429268147	.												C	2	2	12	41563562	41563562	T	C	1	0	0	0	0	0	0	0	1	11798	1461	51	5		5	PDZRN4	12	41563562	Silent	SNP	T	C3L-00144_TP	629858	41563562	91711747	1180	5459											
PDZRN4	0	.	GRCh38	chr12	41573803	41573803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaattttggacaactggatGacaatccaagaactgatgac	17	9	8	7	0	0	4	0	3	0	1	1	6	1	6	1	2	2	0	1	2	6	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3024G>A	p.Met1008Ile	p.M1008I	ENST00000402685	10/10	71	61	10	55	55	0	strelka-varscan-mutect	PDZRN4,missense_variant,p.Met748Ile,ENST00000298919,;PDZRN4,missense_variant,p.Met1008Ile,ENST00000402685,NM_001164595.1;PDZRN4,missense_variant,p.Met750Ile,ENST00000539469,NM_013377.3;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;	A	ENST00000402685	Transcript	missense_variant	3032/3347	3024/3111	1008/1036	M/I	atG/atA		1		1	PDZRN4	HGNC	HGNC:30552	protein_coding	YES	CCDS53777.1	ENSP00000384197	Q6ZMN7		UPI0000D621D0	NM_001164595.1	tolerated(0.37)		10/10		hmmpanther:PTHR15545,hmmpanther:PTHR15545:SF6																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	41573803	41573803	G	A	1	0	0	0	0	1	0	0	0	11798	1290	45	3		3	PDZRN4	12	41573803	Missense_Mutation	SNP	G	C3L-00144_TP	10241	41573803	91701506	1181	5460											
ADAMTS20	0	.	GRCh38	chr12	43377471	43377471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttgataaactataggcCgaagtcgatggagcttatgt	12	13	10	6	2	1	1	0	1	1	0	2	4	1	2	1	2	2	1	1	2	6	6	rs112430320		C3L-00144_TP	C3L-00144_NB	C	C																c.4889G>T	p.Arg1630Leu	p.R1630L	ENST00000389420	32/39	224	184	40	202	201	1	strelka-varscan-mutect	ADAMTS20,missense_variant,p.Arg1630Leu,ENST00000389420,NM_025003.3;	A	ENST00000389420	Transcript	missense_variant	4889/6076	4889/5733	1630/1910	R/L	cGg/cTg	rs112430320,COSM3416837,COSM3416838	1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3	tolerated(0.56)		32/39													0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs112430320	.												A	3	1	12	43377471	43377471	C	A	1	0	0	0	0	1	0	0	0	310	652	23	1		1	ADAMTS20	12	43377471	Missense_Mutation	SNP	C	C3L-00144_TP	1803668	43377471	89897838	1182	5461											
ADAMTS20	0	.	GRCh38	chr12	43428462	43428462	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcacagtaattctcatCaattggctgatggtagttca	12	13	9	7	0	4	1	4	1	1	0	5	2	4	2	0	3	0	4	0	3	3	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3724G>T	p.Asp1242Tyr	p.D1242Y	ENST00000389420	26/39	261	219	42	210	210	0	strelka-varscan-mutect	ADAMTS20,missense_variant,p.Asp1242Tyr,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Asp1242Tyr,ENST00000395541,;ADAMTS20,missense_variant,p.Asp1242Tyr,ENST00000553158,;ADAMTS20,missense_variant,p.Asp372Tyr,ENST00000549670,;	A	ENST00000389420	Transcript	missense_variant	3724/6076	3724/5733	1242/1910	D/Y	Gat/Tat		1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3	deleterious(0.02)		26/39		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	43428462	43428462	C	A	1	0	0	0	0	1	0	0	0	310	826	29	2		2	ADAMTS20	12	43428462	Missense_Mutation	SNP	C	C3L-00144_TP	50991	43428462	89846847	1183	5462											
DBX2	0	.	GRCh38	chr12	45016522	45016522	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccgtgagaggggatcctCttgaagacctacttcttgga	10	10	12	9	1	2	4	0	2	2	3	3	7	3	6	3	3	1	0	3	3	2	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.784G>C	p.Glu262Gln	p.E262Q	ENST00000332700	4/4	92	72	20	112	112	0	strelka-varscan-mutect	DBX2,missense_variant,p.Glu262Gln,ENST00000332700,NM_001004329.2;	G	ENST00000332700	Transcript	missense_variant	956/2806	784/1020	262/339	E/Q	Gag/Cag		1		-1	DBX2	HGNC	HGNC:33186	protein_coding	YES	CCDS31781.1	ENSP00000331470	Q6ZNG2		UPI000041A784	NM_001004329.2	tolerated(0.09)		4/4		hmmpanther:PTHR24331,hmmpanther:PTHR24331:SF4																	MODERATE	1	SNV	2			1										PASS		rs1246450969	.												G	3	3	12	45016522	45016522	C	G	1	0	0	0	0	1	0	0	0	4060	922	32	4		4	DBX2	12	45016522	Missense_Mutation	SNP	C	C3L-00144_TP	1588060	45016522	88258787	1184	5463											
SLC38A1	0	.	GRCh38	chr12	46197800	46197800	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaatgaaaataagcaTgttagcagatgtaactcctg	17	9	10	5	0	0	3	0	1	0	2	1	4	1	4	1	1	3	4	1	1	7	3	rs201058166		C3L-00144_TP	C3L-00144_NB	T	T																c.1282A>T	p.Met428Leu	p.M428L	ENST00000552197	16/17	137	118	19	122	122	0	strelka-varscan-mutect	SLC38A1,missense_variant,p.Met428Leu,ENST00000398637,NM_001077484.1,NM_001278389.1,NM_030674.3;SLC38A1,missense_variant,p.Met428Leu,ENST00000439706,NM_001278387.1;SLC38A1,missense_variant,p.Met428Leu,ENST00000549049,NM_001278388.1;SLC38A1,missense_variant,p.Met428Leu,ENST00000552197,NM_001278390.1;SLC38A1,missense_variant,p.Met428Leu,ENST00000546893,;SLC38A1,missense_variant,p.Met428Leu,ENST00000612161,;SLC38A1,downstream_gene_variant,,ENST00000549633,;SLC38A1,non_coding_transcript_exon_variant,,ENST00000548979,;	A	ENST00000552197	Transcript	missense_variant	1967/2599	1282/1512	428/503	M/L	Atg/Ttg	rs201058166	1		-1	SLC38A1	HGNC	HGNC:13447	protein_coding	YES	CCDS61106.1	ENSP00000449756		F8VX04	UPI00018923FA	NM_001278390.1	tolerated(1)		16/17		hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF184,Pfam_domain:PF01490,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs201058166	.												A	3	1	12	46197800	46197800	T	A	1	0	0	0	0	1	0	0	0	14879	1464	51	4		4	SLC38A1	12	46197800	Missense_Mutation	SNP	T	C3L-00144_TP	1181278	46197800	87077509	1185	5464											
PFKM	0	.	GRCh38	chr12	48141325	48141325	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagatagaggaagctggCtggagctatgttgggggctg	9	8	17	7	0	0	2	0	0	0	2	0	4	0	4	1	5	2	5	1	5	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1569C>A	p.=	p.G523G	ENST00000340802	17/25	262	233	29	223	223	0	strelka-varscan-mutect	PFKM,synonymous_variant,p.=,ENST00000359794,NM_000289.5;PFKM,synonymous_variant,p.=,ENST00000340802,NM_001166686.1;PFKM,synonymous_variant,p.=,ENST00000312352,NM_001166687.1;PFKM,synonymous_variant,p.=,ENST00000547587,NM_001166688.1;PFKM,synonymous_variant,p.=,ENST00000551804,;PFKM,synonymous_variant,p.=,ENST00000546465,;PFKM,upstream_gene_variant,,ENST00000553055,;PFKM,3_prime_UTR_variant,,ENST00000547581,;PFKM,3_prime_UTR_variant,,ENST00000552752,;PFKM,non_coding_transcript_exon_variant,,ENST00000546964,;PFKM,downstream_gene_variant,,ENST00000547148,;PFKM,upstream_gene_variant,,ENST00000550802,;PFKM,upstream_gene_variant,,ENST00000552818,;PFKM,downstream_gene_variant,,ENST00000552989,;PFKM,upstream_gene_variant,,ENST00000552214,;	A	ENST00000340802	Transcript	synonymous_variant	1793/3176	1569/2556	523/851	G	ggC/ggA		1		1	PFKM	HGNC	HGNC:8877	protein_coding	YES	CCDS53786.1	ENSP00000345771	P08237		UPI0000D621DC	NM_001166686.1			17/25		HAMAP:MF_03184,hmmpanther:PTHR13697,hmmpanther:PTHR13697:SF13,Pfam_domain:PF00365,PIRSF_domain:PIRSF000533,Gene3D:3.40.50.450,TIGRFAM_domain:TIGR02478,Superfamily_domains:SSF53784																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	12	48141325	48141325	C	A	1	0	0	0	0	0	0	0	1	11855	784	28	2		2	PFKM	12	48141325	Silent	SNP	C	C3L-00144_TP	1943525	48141325	85133984	1186	5465											
KMT2D	0	.	GRCh38	chr12	49031271	49031271	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcgcagcccctcggacccCcgcccagtgctgagttgcac	5	6	11	19	3	0	1	0	1	0	0	2	2	0	2	5	1	3	5	5	1	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.13434G>T	p.=	p.R4478R	ENST00000301067	39/54	185	156	29	151	151	0	strelka-varscan-mutect	KMT2D,synonymous_variant,p.=,ENST00000301067,NM_003482.3;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,non_coding_transcript_exon_variant,,ENST00000552391,;	A	ENST00000301067	Transcript	synonymous_variant	13434/19419	13434/16614	4478/5537	R	cgG/cgT		1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3			39/54																			LOW	1	SNV	5			1										PASS		rs1170892210	.												A	2	1	12	49031271	49031271	C	A	1	0	0	0	0	0	0	0	1	8298	610	22	2		2	KMT2D	12	49031271	Silent	SNP	C	C3L-00144_TP	889946	49031271	84244038	1187	5466											
KMT2D	0	.	GRCh38	chr12	49031975	49031975	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgggtcccaggctcctGgtagggtggggtctggcgta	3	10	19	9	1	2	0	0	0	2	0	4	0	4	0	2	8	0	3	2	8	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.12730C>T	p.Gln4244Ter	p.Q4244*	ENST00000301067	39/54	29	23	6	38	38	0	strelka-varscan-mutect	KMT2D,stop_gained,p.Gln4244Ter,ENST00000301067,NM_003482.3;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000552391,;	A	ENST00000301067	Transcript	stop_gained	12730/19419	12730/16614	4244/5537	Q/*	Cag/Tag		1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3			39/54																			HIGH	1	SNV	5			1										PASS		.	.												A	4	1	12	49031975	49031975	G	A	1	0	0	0	0	0	1	0	0	8298	1357	47	3		3	KMT2D	12	49031975	Nonsense_Mutation	SNP	G	C3L-00144_TP	704	49031975	84243334	1188	5467											
KMT2D	0	.	GRCh38	chr12	49044935	49044935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgccagtttctgtcagcCacacaccttcgaagcgaaag	11	8	8	14	2	2	0	1	0	1	0	3	2	2	0	4	0	3	1	4	0	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.4772G>T	p.Trp1591Leu	p.W1591L	ENST00000301067	19/54	146	116	30	117	117	0	strelka-varscan-mutect	KMT2D,missense_variant,p.Trp1591Leu,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000550356,;	A	ENST00000301067	Transcript	missense_variant	4772/19419	4772/16614	1591/5537	W/L	tGg/tTg		1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3	deleterious(0.01)		19/54		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF380																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	49044935	49044935	C	A	1	0	0	0	0	1	0	0	0	8298	595	21	2		2	KMT2D	12	49044935	Missense_Mutation	SNP	C	C3L-00144_TP	12960	49044935	84230374	1189	5468											
KRT7	0	.	GRCh38	chr12	52248204	52248204	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagatggagtgggagccgtGaatatctgtaagtccttggc	9	10	16	6	1	1	2	0	1	1	1	2	5	2	4	2	4	1	1	2	4	3	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1233G>A	p.=	p.V411V	ENST00000331817	8/9	239	220	19	205	204	1	strelka-varscan-mutect	KRT7,synonymous_variant,p.=,ENST00000331817,NM_005556.3;KRT86,upstream_gene_variant,,ENST00000553310,;RP3-416H24.1,upstream_gene_variant,,ENST00000546686,;KRT7,non_coding_transcript_exon_variant,,ENST00000552322,;KRT7,non_coding_transcript_exon_variant,,ENST00000548657,;KRT7,non_coding_transcript_exon_variant,,ENST00000550153,;KRT7,non_coding_transcript_exon_variant,,ENST00000549127,;KRT87P,downstream_gene_variant,,ENST00000529785,;KRT7,downstream_gene_variant,,ENST00000546856,;KRT7,downstream_gene_variant,,ENST00000552183,;KRT7,non_coding_transcript_exon_variant,,ENST00000549638,;KRT7,downstream_gene_variant,,ENST00000551130,;KRT87P,downstream_gene_variant,,ENST00000534226,;	A	ENST00000331817	Transcript	synonymous_variant	1416/1754	1233/1410	411/469	V	gtG/gtA		1		1	KRT7	HGNC	HGNC:6445	protein_coding	YES	CCDS8822.1	ENSP00000329243	P08729		UPI000013CF9E	NM_005556.3			8/9		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF18																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	52248204	52248204	G	A	1	0	0	0	0	0	0	0	1	8365	1277	45	3		3	KRT7	12	52248204	Silent	SNP	G	C3L-00144_TP	3203269	52248204	81027105	1190	5469											
KRT6C	0	.	GRCh38	chr12	52469851	52469851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgagtgccatctccccacGctgctcagcatcagcaatgg	8	9	9	15	1	3	1	2	1	1	0	4	1	3	1	3	1	4	4	3	1	1	1	rs759012703		C3L-00144_TP	C3L-00144_NB	G	G																c.1243C>A	p.Arg415Ser	p.R415S	ENST00000252250	7/9	497	415	82	433	431	2	strelka-varscan-mutect	KRT6C,missense_variant,p.Arg415Ser,ENST00000252250,NM_173086.4;KRT6C,downstream_gene_variant,,ENST00000553087,;	T	ENST00000252250	Transcript	missense_variant	1291/2289	1243/1695	415/564	R/S	Cgt/Agt	rs759012703	1		-1	KRT6C	HGNC	HGNC:20406	protein_coding	YES	CCDS8829.1	ENSP00000252250	P48668		UPI00001AE73F	NM_173086.4	deleterious(0)		7/9		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,Prints_domain:PR01276,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,SMART_domains:SM01391,Superfamily_domains:SSF64593																	MODERATE	1	SNV	1			1										PASS		rs759012703	.												T	3	4	12	52469851	52469851	G	T	1	0	0	0	0	1	0	0	0	8364	1087	38	1		1	KRT6C	12	52469851	Missense_Mutation	SNP	G	C3L-00144_TP	221647	52469851	80805458	1191	5470											
KRT6A	0	.	GRCh38	chr12	52490592	52490592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtctggtaccaggactcagCctcagcccggcttctctgag	6	9	12	14	1	4	1	2	1	2	0	5	2	4	2	3	4	3	2	3	4	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1054G>T	p.Ala352Ser	p.A352S	ENST00000330722	5/9	591	484	107	558	558	0	strelka-varscan-mutect	KRT6A,missense_variant,p.Ala352Ser,ENST00000330722,NM_005554.3;KRT6A,non_coding_transcript_exon_variant,,ENST00000549898,;KRT6A,non_coding_transcript_exon_variant,,ENST00000549754,;KRT6A,non_coding_transcript_exon_variant,,ENST00000549600,;KRT6A,non_coding_transcript_exon_variant,,ENST00000548735,;	A	ENST00000330722	Transcript	missense_variant	1123/2310	1054/1695	352/564	A/S	Gct/Tct		1		-1	KRT6A	HGNC	HGNC:6443	protein_coding	YES	CCDS41786.1	ENSP00000369317	P02538	A0A0S2Z428	UPI000013CD4C	NM_005554.3	deleterious(0.01)		5/9		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	52490592	52490592	C	A	1	0	0	0	0	1	0	0	0	8362	739	26	2		2	KRT6A	12	52490592	Missense_Mutation	SNP	C	C3L-00144_TP	20741	52490592	80784717	1192	5471											
KRT6A	0	.	GRCh38	chr12	52490608	52490608	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcctcagcccggcttctCtgagcaatctcctcatattg	7	12	7	15	1	5	1	3	1	2	0	7	1	5	1	3	1	3	2	3	1	2	3	rs772528079		C3L-00144_TP	C3L-00144_NB	C	C																c.1038G>T	p.Gln346His	p.Q346H	ENST00000330722	5/9	615	502	113	591	590	1	strelka-varscan-mutect	KRT6A,missense_variant,p.Gln346His,ENST00000330722,NM_005554.3;KRT6A,non_coding_transcript_exon_variant,,ENST00000549898,;KRT6A,non_coding_transcript_exon_variant,,ENST00000549754,;KRT6A,non_coding_transcript_exon_variant,,ENST00000549600,;KRT6A,non_coding_transcript_exon_variant,,ENST00000548735,;	A	ENST00000330722	Transcript	missense_variant	1107/2310	1038/1695	346/564	Q/H	caG/caT	rs772528079	1		-1	KRT6A	HGNC	HGNC:6443	protein_coding	YES	CCDS41786.1	ENSP00000369317	P02538	A0A0S2Z428	UPI000013CD4C	NM_005554.3	deleterious(0.03)		5/9		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		rs772528079	.												A	3	1	12	52490608	52490608	C	A	1	0	0	0	0	1	0	0	0	8362	912	32	2		2	KRT6A	12	52490608	Missense_Mutation	SNP	C	C3L-00144_TP	16	52490608	80784701	1193	5472											
KRT5	0	.	GRCh38	chr12	52519921	52519921	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccagggccaccgaagcCacctccaaagccagctccgc	12	2	9	18	2	0	0	0	0	0	0	2	1	2	0	8	1	4	1	8	1	3	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.376G>T	p.Gly126Cys	p.G126C	ENST00000252242	1/9	295	253	42	287	285	2	strelka-varscan-mutect	KRT5,missense_variant,p.Gly126Cys,ENST00000252242,NM_000424.3;KRT5,missense_variant,p.Gly16Cys,ENST00000549420,;KRT5,missense_variant,p.Gly126Cys,ENST00000546577,;KRT5,missense_variant,p.Gly91Cys,ENST00000551275,;KRT5,upstream_gene_variant,,ENST00000548409,;KRT5,upstream_gene_variant,,ENST00000551188,;KRT5,non_coding_transcript_exon_variant,,ENST00000552629,;KRT5,upstream_gene_variant,,ENST00000549511,;KRT5,upstream_gene_variant,,ENST00000551013,;KRT5,upstream_gene_variant,,ENST00000547890,;KRT5,upstream_gene_variant,,ENST00000552952,;	A	ENST00000252242	Transcript	missense_variant	767/2531	376/1773	126/590	G/C	Ggc/Tgc		1		-1	KRT5	HGNC	HGNC:6442	protein_coding	YES	CCDS8830.1	ENSP00000252242	P13647		UPI000013CD4B	NM_000424.3	deleterious(0.01)		1/9		Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF205,hmmpanther:PTHR23239,Pfam_domain:PF16208																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	52519921	52519921	C	A	1	0	0	0	0	1	0	0	0	8361	594	21	2		2	KRT5	12	52519921	Missense_Mutation	SNP	C	C3L-00144_TP	29313	52519921	80755388	1194	5473											
KRT2	0	.	GRCh38	chr12	52645122	52645122	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catatcctcctccagagctgGagcctcctctagagccacct	8	9	7	17	0	1	2	0	0	1	2	5	3	5	3	7	1	3	1	7	1	2	2	rs746933813		C3L-00144_TP	C3L-00144_NB	G	G																c.1817C>G	p.Ser606Cys	p.S606C	ENST00000309680	9/9	384	288	96	301	301	0	strelka-varscan-mutect	KRT2,missense_variant,p.Ser606Cys,ENST00000309680,NM_000423.2;KRT2,downstream_gene_variant,,ENST00000547106,;	C	ENST00000309680	Transcript	missense_variant	1839/2403	1817/1920	606/639	S/C	tCc/tGc	rs746933813	1		-1	KRT2	HGNC	HGNC:6439	protein_coding	YES	CCDS8835.1	ENSP00000310861	P35908		UPI0000367804	NM_000423.2	deleterious_low_confidence(0)		9/9		Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF134																	MODERATE	1	SNV	1			1										PASS		rs746933813	.												C	3	2	12	52645122	52645122	G	C	1	0	0	0	0	1	0	0	0	8339	1174	41	4		4	KRT2	12	52645122	Missense_Mutation	SNP	G	C3L-00144_TP	125201	52645122	80630187	1195	5474											
SOAT2	0	.	GRCh38	chr12	53105600	53105600	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaaacagaaagttttcatCatccgcaagtccctgcttga	12	10	9	10	1	2	2	2	1	0	1	4	3	4	3	2	1	2	3	2	1	3	3			C3L-00144_TP	C3L-00144_NB	C	C																c.315C>G	p.Ile105Met	p.I105M	ENST00000301466	4/15	196	157	39	159	159	0	strelka-varscan-mutect	SOAT2,missense_variant,p.Ile105Met,ENST00000301466,NM_003578.3;SOAT2,intron_variant,,ENST00000551896,;IGFBP6,downstream_gene_variant,,ENST00000548547,;IGFBP6,downstream_gene_variant,,ENST00000301464,NM_002178.2;IGFBP6,downstream_gene_variant,,ENST00000549628,;SOAT2,missense_variant,p.Ile105Met,ENST00000542365,;IGFBP6,downstream_gene_variant,,ENST00000548176,;	G	ENST00000301466	Transcript	missense_variant	375/2044	315/1569	105/522	I/M	atC/atG	COSM3812355	1		1	SOAT2	HGNC	HGNC:11178	protein_coding	YES	CCDS8847.1	ENSP00000301466	O75908		UPI0000135B61	NM_003578.3	tolerated(0.18)		4/15		PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500230,hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF10											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	12	53105600	53105600	C	G	1	0	0	0	0	1	0	0	0	15232	816	29	4		4	SOAT2	12	53105600	Missense_Mutation	SNP	C	C3L-00144_TP	460478	53105600	80169709	1196	5475											
HOXC11	0	.	GRCh38	chr12	53973392	53973392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacggtctcctccttcCtgccccaggccccctctcgt	2	11	6	22	2	3	0	0	0	3	0	8	0	5	0	8	2	1	0	8	2	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.151C>A	p.Leu51Met	p.L51M	ENST00000546378	1/2	231	192	39	197	196	1	strelka-varscan-mutect	HOXC11,missense_variant,p.Leu51Met,ENST00000546378,NM_014212.3;HOXC11,missense_variant,p.Leu51Met,ENST00000243082,;HOTAIR,intron_variant,,ENST00000424518,;HOTAIR,intron_variant,,ENST00000455246,;HOTAIR,upstream_gene_variant,,ENST00000439545,;AC012531.2,downstream_gene_variant,,ENST00000611375,;	A	ENST00000546378	Transcript	missense_variant	267/3261	151/915	51/304	L/M	Ctg/Atg		1		1	HOXC11	HGNC	HGNC:5123	protein_coding	YES	CCDS8867.1	ENSP00000446680	O43248		UPI000012CF7D	NM_014212.3	deleterious(0)		1/2		hmmpanther:PTHR24326:SF172,hmmpanther:PTHR24326,Pfam_domain:PF12045																	MODERATE	1	SNV	1			1										PASS		rs1389429092	.												A	3	1	12	53973392	53973392	C	A	1	0	0	0	0	1	0	0	0	7204	680	24	2		2	HOXC11	12	53973392	Missense_Mutation	SNP	C	C3L-00144_TP	867792	53973392	79301917	1197	5476											
TAC3	0	.	GRCh38	chr12	57013372	57013372	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttacgtttctcgggagaTgttgattccttaggatctgt	7	17	10	7	2	2	2	0	1	2	1	4	4	3	3	1	2	2	2	1	2	3	6	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.225A>G	p.=	p.T75T	ENST00000615887	4/9	325	253	72	368	368	0	strelka-varscan-mutect	TAC3,synonymous_variant,p.=,ENST00000615887,;TAC3,synonymous_variant,p.=,ENST00000458521,NM_013251.3;TAC3,synonymous_variant,p.=,ENST00000441881,NM_001178054.1;TAC3,synonymous_variant,p.=,ENST00000415231,;TAC3,synonymous_variant,p.=,ENST00000393867,;TAC3,synonymous_variant,p.=,ENST00000300108,;TAC3,synonymous_variant,p.=,ENST00000379411,;TAC3,synonymous_variant,p.=,ENST00000438756,;TAC3,synonymous_variant,p.=,ENST00000357616,;TAC3,synonymous_variant,p.=,ENST00000423597,;TAC3,non_coding_transcript_exon_variant,,ENST00000496757,;	C	ENST00000615887	Transcript	synonymous_variant	364/1120	225/366	75/121	T	acA/acG		1		-1	TAC3	HGNC	HGNC:11521	protein_coding	YES	CCDS8928.1	ENSP00000483110	Q9UHF0	A0A024RB47	UPI00000312E8				4/9		hmmpanther:PTHR15536,hmmpanther:PTHR15536:SF1,PIRSF_domain:PIRSF001843,Prints_domain:PR01828																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	12	57013372	57013372	T	C	1	0	0	0	0	0	0	0	1	15895	1451	51	5		5	TAC3	12	57013372	Silent	SNP	T	C3L-00144_TP	3039980	57013372	76261937	1198	5477											
MYO1A	0	.	GRCh38	chr12	57047381	57047381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccacagacggcagccaCataagacatcaccagcttgc	12	7	7	15	1	1	2	1	0	0	2	2	2	2	2	3	1	3	2	3	1	1	3	rs768857384		C3L-00144_TP	C3L-00144_NB	C	C																c.352G>T	p.Val118Leu	p.V118L	ENST00000442789	6/29	322	302	20	277	277	0	strelka-varscan-mutect	MYO1A,missense_variant,p.Val118Leu,ENST00000442789,NM_001256041.1;MYO1A,missense_variant,p.Val118Leu,ENST00000300119,NM_005379.3;MYO1A,intron_variant,,ENST00000492945,;MYO1A,downstream_gene_variant,,ENST00000433964,;MYO1A,downstream_gene_variant,,ENST00000471791,;MYO1A,5_prime_UTR_variant,,ENST00000554234,;	A	ENST00000442789	Transcript	missense_variant	640/3658	352/3132	118/1043	V/L	Gtg/Ttg	rs768857384	1		-1	MYO1A	HGNC	HGNC:7595	protein_coding	YES	CCDS8929.1	ENSP00000393392	Q9UBC5		UPI000012FAC2	NM_001256041.1	tolerated(0.11)		6/29		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF291,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193																	MODERATE	1	SNV	1			1										PASS		rs768857384	.												A	3	1	12	57047381	57047381	C	A	1	0	0	0	0	1	0	0	0	10069	478	17	2		2	MYO1A	12	57047381	Missense_Mutation	SNP	C	C3L-00144_TP	34009	57047381	76227928	1199	5478											
MYO1A	0	.	GRCh38	chr12	57048041	57048041	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatatttggcaatgaactCtggcccatagatgggaagct	11	12	11	7	0	1	3	0	2	1	1	1	4	1	4	1	3	2	2	1	3	5	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.178G>T	p.Glu60Ter	p.E60*	ENST00000442789	4/29	290	257	33	258	258	0	strelka-varscan-mutect	MYO1A,stop_gained,p.Glu60Ter,ENST00000442789,NM_001256041.1;MYO1A,stop_gained,p.Glu60Ter,ENST00000300119,NM_005379.3;MYO1A,stop_gained,p.Glu60Ter,ENST00000433964,;MYO1A,intron_variant,,ENST00000492945,;MYO1A,non_coding_transcript_exon_variant,,ENST00000471791,;MYO1A,upstream_gene_variant,,ENST00000554234,;	A	ENST00000442789	Transcript	stop_gained	466/3658	178/3132	60/1043	E/*	Gag/Tag		1		-1	MYO1A	HGNC	HGNC:7595	protein_coding	YES	CCDS8929.1	ENSP00000393392	Q9UBC5		UPI000012FAC2	NM_001256041.1			4/29		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF291,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	57048041	57048041	C	A	1	0	0	0	0	0	1	0	0	10069	922	32	2		2	MYO1A	12	57048041	Nonsense_Mutation	SNP	C	C3L-00144_TP	660	57048041	76227268	1200	5479											
GLI1	0	.	GRCh38	chr12	57466292	57466292	+	Frame_Shift_Del	DEL	G	G	-																															gaaggagttcgtgtgccactGggggggctgctccagggagc																								rs368789621,rs759448855		C3L-00144_TP	C3L-00144_NB	G	G																c.821delG	p.Gly274AlafsTer6	p.G274Afs*6	ENST00000228682	8/12	126	104	22	117	116	1	sindel-varindel	GLI1,frameshift_variant,p.Gly274AlafsTer6,ENST00000228682,NM_005269.2;GLI1,frameshift_variant,p.Gly233AlafsTer6,ENST00000546141,NM_001167609.1;GLI1,frameshift_variant,p.Gly146AlafsTer6,ENST00000543426,NM_001160045.1;GLI1,frameshift_variant,p.Gly233AlafsTer6,ENST00000528467,;GLI1,frameshift_variant,p.Gly146AlafsTer6,ENST00000532291,;GLI1,downstream_gene_variant,,ENST00000528432,;GLI1,downstream_gene_variant,,ENST00000527742,;GLI1,downstream_gene_variant,,ENST00000530789,;	-	ENST00000228682	Transcript	frameshift_variant	906/3613	815/3321	272/1106	W/X	tGg/tg	rs368789621,rs759448855,COSM1180784	1		1	GLI1	HGNC	HGNC:4317	protein_coding	YES	CCDS8940.1	ENSP00000228682	P08151		UPI000012B607	NM_005269.2			8/12		PROSITE_profiles:PS50157,hmmpanther:PTHR19818:SF2,hmmpanther:PTHR19818,Gene3D:3.30.160.60,SMART_domains:SM00355											0,0,1						HIGH	1	deletion	1	6	0,0,1	1										PASS		.	.												-	7	5	12	57466292	57466292	G	-	1	0	1	0	1	0	0	0	0	6315	1357	47	0		0	GLI1	12	57466292	Frame_Shift_Del	DEL	G	C3L-00144_TP	418251	57466292	75809017	1201	5480											
GLI1	0	.	GRCh38	chr12	57470991	57470991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgaggggtccaggctctCtgcctcttgggcctggtcca	4	9	15	13	1	2	0	0	0	2	0	5	2	4	0	4	5	2	1	4	5	0	1	rs192168783		C3L-00144_TP	C3L-00144_NB	C	C																c.2251C>A	p.Leu751Met	p.L751M	ENST00000228682	12/12	56	48	8	37	37	0	strelka-varscan-mutect	GLI1,missense_variant,p.Leu751Met,ENST00000228682,NM_005269.2;GLI1,missense_variant,p.Leu710Met,ENST00000546141,NM_001167609.1;GLI1,missense_variant,p.Leu623Met,ENST00000543426,NM_001160045.1;GLI1,missense_variant,p.Leu710Met,ENST00000528467,;ARHGAP9,downstream_gene_variant,,ENST00000393797,NM_001319850.1;ARHGAP9,downstream_gene_variant,,ENST00000550288,;ARHGAP9,downstream_gene_variant,,ENST00000393791,NM_032496.2;ARHGAP9,downstream_gene_variant,,ENST00000424809,NM_001080157.1;ARHGAP9,downstream_gene_variant,,ENST00000430041,NM_001080156.1;ARHGAP9,downstream_gene_variant,,ENST00000548139,;GLI1,downstream_gene_variant,,ENST00000532291,;ARHGAP9,downstream_gene_variant,,ENST00000550399,;ARHGAP9,downstream_gene_variant,,ENST00000550130,;MARS,upstream_gene_variant,,ENST00000549133,;ARHGAP9,downstream_gene_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000552953,;ARHGAP9,downstream_gene_variant,,ENST00000550440,;GLI1,downstream_gene_variant,,ENST00000527742,;ARHGAP9,downstream_gene_variant,,ENST00000546704,;	A	ENST00000228682	Transcript	missense_variant	2342/3613	2251/3321	751/1106	L/M	Ctg/Atg	rs192168783,COSM4827335	1		1	GLI1	HGNC	HGNC:4317	protein_coding	YES	CCDS8940.1	ENSP00000228682	P08151		UPI000012B607	NM_005269.2	tolerated(0.2)		12/12		Low_complexity_(Seg):seg,hmmpanther:PTHR19818:SF2,hmmpanther:PTHR19818											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs192168783	.												A	3	1	12	57470991	57470991	C	A	1	0	0	0	0	1	0	0	0	6315	912	32	2		2	GLI1	12	57470991	Missense_Mutation	SNP	C	C3L-00144_TP	4699	57470991	75804318	1202	5481											
B4GALNT1	0	.	GRCh38	chr12	57626903	57626903	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtttggatgcatgatcCaccacgacgtcggagcagga	10	9	12	10	3	1	1	1	1	0	0	3	5	2	4	2	3	2	3	2	3	0	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1443G>A	p.=	p.V481V	ENST00000341156	11/11	258	200	58	259	259	0	strelka-varscan-mutect	B4GALNT1,synonymous_variant,p.=,ENST00000341156,NM_001478.4;B4GALNT1,synonymous_variant,p.=,ENST00000418555,NM_001276468.1;SLC26A10,downstream_gene_variant,,ENST00000320442,NM_133489.2;B4GALNT1,downstream_gene_variant,,ENST00000550764,NM_001276469.1;B4GALNT1,downstream_gene_variant,,ENST00000552350,;B4GALNT1,downstream_gene_variant,,ENST00000449184,;B4GALNT1,downstream_gene_variant,,ENST00000548888,;B4GALNT1,downstream_gene_variant,,ENST00000551220,;B4GALNT1,downstream_gene_variant,,ENST00000547741,;SLC26A10,downstream_gene_variant,,ENST00000490243,;SLC26A10,downstream_gene_variant,,ENST00000483647,;B4GALNT1,downstream_gene_variant,,ENST00000550943,;B4GALNT1,3_prime_UTR_variant,,ENST00000552798,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000553142,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000552468,;SLC26A10,downstream_gene_variant,,ENST00000474359,;SLC26A10,downstream_gene_variant,,ENST00000440686,;SLC26A10,downstream_gene_variant,,ENST00000487816,;B4GALNT1,downstream_gene_variant,,ENST00000551925,;B4GALNT1,downstream_gene_variant,,ENST00000549391,;SLC26A10,downstream_gene_variant,,ENST00000474791,;SLC26A10,downstream_gene_variant,,ENST00000463802,;B4GALNT1,downstream_gene_variant,,ENST00000548487,;B4GALNT1,downstream_gene_variant,,ENST00000552219,;	T	ENST00000341156	Transcript	synonymous_variant	2028/3036	1443/1602	481/533	V	gtG/gtA		1		-1	B4GALNT1	HGNC	HGNC:4117	protein_coding	YES	CCDS8950.1	ENSP00000341562	Q00973		UPI0000126DD5	NM_001478.4			11/11		Gene3D:3.90.550.10,PIRSF_domain:PIRSF000474,hmmpanther:PTHR15046,hmmpanther:PTHR15046:SF1,Superfamily_domains:SSF53448																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	57626903	57626903	C	T	1	0	0	0	0	0	0	0	1	1422	581	21	3		3	B4GALNT1	12	57626903	Silent	SNP	C	C3L-00144_TP	155912	57626903	75648406	1203	5482											
AGAP2	0	.	GRCh38	chr12	57732873	57732873	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagacccgatccacattgagCccataggttgcacaagtctc	12	8	8	13	1	1	2	0	1	1	1	3	3	2	2	3	1	2	2	3	1	3	3	rs545156621		C3L-00144_TP	C3L-00144_NB	C	C																c.1656G>C	p.=	p.G552G	ENST00000547588	6/19	227	197	30	177	177	0	strelka-varscan-mutect	AGAP2,synonymous_variant,p.=,ENST00000257897,NM_014770.3;AGAP2,synonymous_variant,p.=,ENST00000328568,;AGAP2,synonymous_variant,p.=,ENST00000547588,NM_001122772.2;AGAP2,upstream_gene_variant,,ENST00000549129,;AGAP2-AS1,downstream_gene_variant,,ENST00000542466,;	G	ENST00000547588	Transcript	synonymous_variant	1656/3579	1656/3579	552/1192	G	ggG/ggC	rs545156621	1		-1	AGAP2	HGNC	HGNC:16921	protein_coding	YES	CCDS44932.1	ENSP00000449241		F8VVT9	UPI00001AF80C	NM_001122772.2			6/19		Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51419,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF256,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs545156621	.												G	2	3	12	57732873	57732873	C	G	1	0	0	0	0	0	0	0	1	445	726	26	4		4	AGAP2	12	57732873	Silent	SNP	C	C3L-00144_TP	105970	57732873	75542436	1204	5483											
AGAP2	0	.	GRCh38	chr12	57742038	57742038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctgacttctgctctcaCtgcagctacaacgaactgcc	8	11	7	15	2	3	1	1	1	3	0	5	2	3	1	1	0	7	3	1	0	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.34G>T	p.Val12Leu	p.V12L	ENST00000257897	1/18	126	106	20	134	134	0	strelka-varscan-mutect	AGAP2,missense_variant,p.Val12Leu,ENST00000257897,NM_014770.3;AGAP2,upstream_gene_variant,,ENST00000328568,;AGAP2,upstream_gene_variant,,ENST00000547588,NM_001122772.2;TSPAN31,upstream_gene_variant,,ENST00000547992,;TSPAN31,upstream_gene_variant,,ENST00000257910,NM_005981.3;TSPAN31,upstream_gene_variant,,ENST00000552816,;TSPAN31,upstream_gene_variant,,ENST00000548167,;TSPAN31,upstream_gene_variant,,ENST00000547472,;TSPAN31,intron_variant,,ENST00000553221,;TSPAN31,intron_variant,,ENST00000550528,;TSPAN31,intron_variant,,ENST00000547311,;TSPAN31,upstream_gene_variant,,ENST00000548093,;TSPAN31,upstream_gene_variant,,ENST00000550791,;TSPAN31,upstream_gene_variant,,ENST00000546993,;TSPAN31,upstream_gene_variant,,ENST00000549052,;TSPAN31,upstream_gene_variant,,ENST00000546922,;TSPAN31,upstream_gene_variant,,ENST00000553089,;	A	ENST00000257897	Transcript	missense_variant	120/5388	34/2511	12/836	V/L	Gtg/Ttg		1		-1	AGAP2	HGNC	HGNC:16921	protein_coding		CCDS8951.1	ENSP00000257897	Q99490	A0A024RB55	UPI00000012B8	NM_014770.3	deleterious(0.01)		1/18		Low_complexity_(Seg):seg																	MODERATE		SNV	1			1										PASS		.	.												A	3	1	12	57742038	57742038	C	A	1	0	0	0	0	1	0	0	0	445	565	20	2		2	AGAP2	12	57742038	Missense_Mutation	SNP	C	C3L-00144_TP	9165	57742038	75533271	1205	5484											
AVPR1A	0	.	GRCh38	chr12	63150095	63150095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgacgccgtcttcccgcGgacgttgcaccagatgttgt	5	9	13	14	7	1	1	0	0	1	1	2	3	2	2	3	1	1	3	3	1	0	3			C3L-00144_TP	C3L-00144_NB	G	G																c.742C>T	p.Arg248Cys	p.R248C	ENST00000299178	1/2	365	287	78	328	328	0	strelka-varscan-mutect	AVPR1A,missense_variant,p.Arg248Cys,ENST00000299178,NM_000706.4;AVPR1A,missense_variant,p.Arg29Cys,ENST00000550940,;RP11-715H19.2,upstream_gene_variant,,ENST00000624438,;	A	ENST00000299178	Transcript	missense_variant	848/5963	742/1257	248/418	R/C	Cgc/Tgc	COSM1747188	1		-1	AVPR1A	HGNC	HGNC:895	protein_coding	YES	CCDS8965.1	ENSP00000299178	P37288	X5D2B0	UPI0000050439	NM_000706.4	deleterious(0.01)		1/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF17,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	63150095	63150095	G	A	1	0	0	0	0	1	0	0	0	1387	1116	39	1		1	AVPR1A	12	63150095	Missense_Mutation	SNP	G	C3L-00144_TP	5408057	63150095	70125214	1206	5485											
AVPR1A	0	.	GRCh38	chr12	63150728	63150728	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcggtgggccgttgccctCcccgagggcttcggcctccc	1	8	13	19	4	0	0	0	0	0	0	4	1	2	0	7	4	1	2	7	4	0	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.109G>T	p.Glu37Ter	p.E37*	ENST00000299178	1/2	209	178	31	201	201	0	strelka-varscan-mutect	AVPR1A,stop_gained,p.Glu37Ter,ENST00000299178,NM_000706.4;AVPR1A,upstream_gene_variant,,ENST00000550940,;RP11-715H19.2,upstream_gene_variant,,ENST00000624438,;	A	ENST00000299178	Transcript	stop_gained	215/5963	109/1257	37/418	E/*	Gag/Tag		1		-1	AVPR1A	HGNC	HGNC:895	protein_coding	YES	CCDS8965.1	ENSP00000299178	P37288	X5D2B0	UPI0000050439	NM_000706.4			1/2		hmmpanther:PTHR24241:SF17,hmmpanther:PTHR24241,Prints_domain:PR00752																	HIGH	1	SNV	1			1										PASS		rs1297557645	.												A	4	1	12	63150728	63150728	C	A	1	0	0	0	0	0	1	0	0	1387	864	30	2		2	AVPR1A	12	63150728	Nonsense_Mutation	SNP	C	C3L-00144_TP	633	63150728	70124581	1207	5486											
TBK1	0	.	GRCh38	chr12	64466926	64466926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgaatcatctacgagaGaatggtatagtgcaccgtga	14	9	12	6	2	2	3	1	2	1	1	2	6	2	4	1	2	2	2	1	2	6	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.384G>T	p.Glu128Asp	p.E128D	ENST00000331710	5/21	80	67	13	72	72	0	strelka-varscan-mutect	TBK1,missense_variant,p.Glu128Asp,ENST00000331710,NM_013254.3;TBK1,downstream_gene_variant,,ENST00000538890,;TBK1,downstream_gene_variant,,ENST00000540417,;TBK1,downstream_gene_variant,,ENST00000539810,;	T	ENST00000331710	Transcript	missense_variant	723/3256	384/2190	128/729	E/D	gaG/gaT		1		1	TBK1	HGNC	HGNC:11584	protein_coding	YES	CCDS8968.1	ENSP00000329967	Q9UHD2		UPI0000035B47	NM_013254.3	deleterious(0.03)		5/21		PROSITE_profiles:PS50011,hmmpanther:PTHR22969:SF14,hmmpanther:PTHR22969,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	64466926	64466926	G	T	1	0	0	0	0	1	0	0	0	16042	933	33	2		2	TBK1	12	64466926	Missense_Mutation	SNP	G	C3L-00144_TP	1316198	64466926	68808383	1208	5487											
NUP107	0	.	GRCh38	chr12	68690694	68690694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcattcttggaacaggagGgaagtcgccccgacttacgc	9	8	12	12	3	1	0	0	0	1	0	2	4	1	3	2	3	3	1	2	3	3	3	rs779902780		C3L-00144_TP	C3L-00144_NB	G	G																c.251G>C	p.Gly84Ala	p.G84A	ENST00000229179	4/28	220	198	22	160	160	0	strelka-varscan-mutect	NUP107,missense_variant,p.Gly84Ala,ENST00000229179,NM_020401.2;NUP107,missense_variant,p.Gly55Ala,ENST00000539906,;NUP107,5_prime_UTR_variant,,ENST00000378905,;NUP107,5_prime_UTR_variant,,ENST00000538549,;RP11-637A17.2,upstream_gene_variant,,ENST00000500695,;RP11-637A17.2,upstream_gene_variant,,ENST00000502102,;RP11-637A17.2,upstream_gene_variant,,ENST00000433116,;NUP107,non_coding_transcript_exon_variant,,ENST00000537598,;NUP107,non_coding_transcript_exon_variant,,ENST00000535333,;NUP107,missense_variant,p.Gly84Ala,ENST00000535718,;NUP107,non_coding_transcript_exon_variant,,ENST00000545140,;NUP107,non_coding_transcript_exon_variant,,ENST00000539373,;NUP107,downstream_gene_variant,,ENST00000540453,;RPL7P42,downstream_gene_variant,,ENST00000481005,;	C	ENST00000229179	Transcript	missense_variant	583/6457	251/2778	84/925	G/A	gGg/gCg	rs779902780	1		1	NUP107	HGNC	HGNC:29914	protein_coding	YES	CCDS8985.1	ENSP00000229179	P57740		UPI000012FC0B	NM_020401.2	tolerated_low_confidence(0.65)		4/28		hmmpanther:PTHR13003																	MODERATE	1	SNV	1			1										PASS		rs779902780	.												C	3	2	12	68690694	68690694	G	C	1	0	0	0	0	1	0	0	0	10818	1232	43	4		4	NUP107	12	68690694	Missense_Mutation	SNP	G	C3L-00144_TP	4223768	68690694	64584615	1209	5488											
LRRC10	0	.	GRCh38	chr12	69610355	69610355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggaggcgccggagctGgcctggcagcaaacgcaggg	7	4	17	13	3	0	0	0	0	0	0	1	2	1	2	3	6	3	4	3	6	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.484C>A	p.Gln162Lys	p.Q162K	ENST00000361484	1/1	136	119	17	135	135	0	strelka-varscan-mutect	LRRC10,missense_variant,p.Gln162Lys,ENST00000361484,NM_201550.3;	T	ENST00000361484	Transcript	missense_variant	808/2599	484/834	162/277	Q/K	Cag/Aag		1		-1	LRRC10	HGNC	HGNC:20264	protein_coding	YES	CCDS31856.1	ENSP00000355166	Q5BKY1		UPI00001D79A1	NM_201550.3	tolerated(0.27)		1/1		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,Low_complexity_(Seg):seg,SMART_domains:SM00364,Superfamily_domains:SSF52058																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	12	69610355	69610355	G	T	1	0	0	0	0	1	0	0	0	8863	1357	47	2		2	LRRC10	12	69610355	Missense_Mutation	SNP	G	C3L-00144_TP	919661	69610355	63664954	1210	5489											
PTPRB	0	.	GRCh38	chr12	70622598	70622598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtagtgagaatctggggtGgagccgtgtttctagtgctc	7	12	16	6	1	2	1	0	1	2	1	3	3	2	2	1	4	2	3	1	4	3	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.500C>A	p.Pro167Gln	p.P167Q	ENST00000334414	3/34	145	115	30	176	175	1	strelka-varscan-mutect	PTPRB,missense_variant,p.Pro167Gln,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Pro167Gln,ENST00000550358,;PTPRB,missense_variant,p.Pro166Gln,ENST00000551525,;PTPRB,intron_variant,,ENST00000548122,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;	T	ENST00000334414	Transcript	missense_variant	545/12316	500/6648	167/2215	P/Q	cCa/cAa		1		-1	PTPRB	HGNC	HGNC:9665	protein_coding	YES	CCDS44943.1	ENSP00000334928	P23467		UPI00002294FA	NM_001109754.2	deleterious_low_confidence(0.02)		3/34																			MODERATE	1	SNV	1			1										PASS		rs1203383436	.												T	3	4	12	70622598	70622598	G	T	1	0	0	0	0	1	0	0	0	12950	1348	47	2		2	PTPRB	12	70622598	Missense_Mutation	SNP	G	C3L-00144_TP	1012243	70622598	62652711	1211	5490											
LGR5	0	.	GRCh38	chr12	71584629	71584629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttggtaacctttaccagCtccagcatcacttatgacct	9	12	6	14	0	1	1	1	1	0	0	2	1	2	1	5	1	4	3	5	1	3	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2619C>A	p.Ser873Arg	p.S873R	ENST00000266674	18/18	280	249	31	240	240	0	strelka-varscan-mutect	LGR5,missense_variant,p.Ser873Arg,ENST00000266674,NM_003667.3;LGR5,missense_variant,p.Ser849Arg,ENST00000540815,NM_001277226.1;LGR5,missense_variant,p.Ser801Arg,ENST00000536515,NM_001277227.1;RP11-186F10.2,upstream_gene_variant,,ENST00000546601,;LGR5,non_coding_transcript_exon_variant,,ENST00000550851,;	A	ENST00000266674	Transcript	missense_variant	2930/4611	2619/2724	873/907	S/R	agC/agA		1		1	LGR5	HGNC	HGNC:4504	protein_coding	YES	CCDS9000.1	ENSP00000266674	O75473	A0A0A8K8C7	UPI000004B65C	NM_003667.3	tolerated(0.13)		18/18		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF259																	MODERATE	1	SNV	1			1										PASS		rs1157226820	.												A	3	1	12	71584629	71584629	C	A	1	0	0	0	0	1	0	0	0	8667	796	28	2		2	LGR5	12	71584629	Missense_Mutation	SNP	C	C3L-00144_TP	962031	71584629	61690680	1212	5491											
TMEM19	0	.	GRCh38	chr12	71697302	71697302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaaaggaattgggttcaGgtgttctgtaatggagctgt	9	12	16	4	0	2	0	1	0	1	0	2	2	2	2	0	5	1	5	0	5	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.405G>T	p.Gln135His	p.Q135H	ENST00000266673	4/6	361	321	40	304	301	3	strelka-varscan-mutect	TMEM19,missense_variant,p.Gln135His,ENST00000266673,NM_018279.3;TMEM19,missense_variant,p.Gln135His,ENST00000549735,;TMEM19,missense_variant,p.Gln135His,ENST00000550524,;TMEM19,missense_variant,p.Gln34His,ENST00000546677,;TMEM19,upstream_gene_variant,,ENST00000550787,;TMEM19,upstream_gene_variant,,ENST00000546795,;RP11-293I14.2,3_prime_UTR_variant,,ENST00000548802,;	T	ENST00000266673	Transcript	missense_variant	999/5656	405/1011	135/336	Q/H	caG/caT		1		1	TMEM19	HGNC	HGNC:25605	protein_coding	YES	CCDS9002.1	ENSP00000266673	Q96HH6	A0A024RBA1	UPI000006EFAF	NM_018279.3	deleterious(0.02)		4/6		Pfam_domain:PF01940,hmmpanther:PTHR13353																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	71697302	71697302	G	T	1	0	0	0	0	1	0	0	0	16555	991	35	2		2	TMEM19	12	71697302	Missense_Mutation	SNP	G	C3L-00144_TP	112673	71697302	61578007	1213	5492											
TMEM19	0	.	GRCh38	chr12	71700836	71700836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttttccattccagggttGgatgaaagcactggcatggt	8	14	11	8	0	1	1	0	1	1	0	3	2	3	2	2	4	1	3	2	4	1	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.852G>T	p.Leu284Phe	p.L284F	ENST00000266673	6/6	100	90	10	101	101	0	strelka-varscan-mutect	TMEM19,missense_variant,p.Leu284Phe,ENST00000266673,NM_018279.3;TMEM19,missense_variant,p.Leu100Phe,ENST00000550787,;TMEM19,missense_variant,p.Leu128Phe,ENST00000546795,;TMEM19,downstream_gene_variant,,ENST00000549735,;TMEM19,downstream_gene_variant,,ENST00000550524,;TMEM19,downstream_gene_variant,,ENST00000546677,;RP11-293I14.2,downstream_gene_variant,,ENST00000548802,;	T	ENST00000266673	Transcript	missense_variant	1446/5656	852/1011	284/336	L/F	ttG/ttT		1		1	TMEM19	HGNC	HGNC:25605	protein_coding	YES	CCDS9002.1	ENSP00000266673	Q96HH6	A0A024RBA1	UPI000006EFAF	NM_018279.3	tolerated(0.87)		6/6		Pfam_domain:PF01940,hmmpanther:PTHR13353																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	71700836	71700836	G	T	1	0	0	0	0	1	0	0	0	16555	1362	47	2		2	TMEM19	12	71700836	Missense_Mutation	SNP	G	C3L-00144_TP	3534	71700836	61574473	1214	5493											
TRHDE	0	.	GRCh38	chr12	72378044	72378044	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaagaggatccggggactAtgctctccatataacaaaga	15	7	10	9	1	1	3	0	0	1	3	3	5	2	5	2	3	2	1	2	3	5	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1103A>C	p.Tyr368Ser	p.Y368S	ENST00000261180	3/19	248	206	42	214	214	0	strelka-varscan-mutect	TRHDE,missense_variant,p.Tyr368Ser,ENST00000261180,NM_013381.2;TRHDE,intron_variant,,ENST00000547300,;TRHDE,non_coding_transcript_exon_variant,,ENST00000548156,;	C	ENST00000261180	Transcript	missense_variant	1199/10733	1103/3075	368/1024	Y/S	tAt/tCt		1		1	TRHDE	HGNC	HGNC:30748	protein_coding	YES	CCDS9004.1	ENSP00000261180	Q9UKU6		UPI0000136D52	NM_013381.2	deleterious(0)		3/19		Pfam_domain:PF01433,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	72378044	72378044	A	C	1	0	0	0	0	1	0	0	0	16968	449	16	5		5	TRHDE	12	72378044	Missense_Mutation	SNP	A	C3L-00144_TP	677208	72378044	60897265	1215	5494											
NAP1L1	0	.	GRCh38	chr12	76060155	76060155	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccttatcaaatagaggctGatagagaacagcatacttcc	15	10	7	9	0	1	3	1	1	0	2	2	4	2	3	2	1	4	2	2	1	7	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.331C>T	p.Gln111Ter	p.Q111*	ENST00000618691	5/15	140	112	28	115	114	1	strelka-varscan-mutect	NAP1L1,stop_gained,p.Gln111Ter,ENST00000618691,;NAP1L1,stop_gained,p.Gln111Ter,ENST00000261182,NM_139207.2,NM_004537.4;NAP1L1,stop_gained,p.Gln70Ter,ENST00000431879,;NAP1L1,stop_gained,p.Gln105Ter,ENST00000552056,;NAP1L1,stop_gained,p.Gln48Ter,ENST00000547773,;NAP1L1,stop_gained,p.Gln111Ter,ENST00000393263,;NAP1L1,stop_gained,p.Gln111Ter,ENST00000549596,;NAP1L1,stop_gained,p.Gln111Ter,ENST00000535020,NM_001307924.1;NAP1L1,stop_gained,p.Gln70Ter,ENST00000542344,;NAP1L1,stop_gained,p.Gln111Ter,ENST00000552342,;NAP1L1,stop_gained,p.Gln70Ter,ENST00000548044,;NAP1L1,stop_gained,p.Gln111Ter,ENST00000551992,;NAP1L1,stop_gained,p.Gln111Ter,ENST00000550934,;NAP1L1,stop_gained,p.Gln70Ter,ENST00000548273,;NAP1L1,stop_gained,p.Gln111Ter,ENST00000551600,;NAP1L1,stop_gained,p.Gln111Ter,ENST00000547704,;NAP1L1,stop_gained,p.Gln137Ter,ENST00000547479,;NAP1L1,stop_gained,p.Gln70Ter,ENST00000551524,;NAP1L1,5_prime_UTR_variant,,ENST00000544816,;NAP1L1,stop_gained,p.Gln73Ter,ENST00000552147,;NAP1L1,stop_gained,p.Gln51Ter,ENST00000547529,;NAP1L1,non_coding_transcript_exon_variant,,ENST00000549988,;NAP1L1,upstream_gene_variant,,ENST00000547993,;RP11-290L1.4,downstream_gene_variant,,ENST00000552477,;	A	ENST00000618691	Transcript	stop_gained	818/13505	331/1176	111/391	Q/*	Cag/Tag		1		-1	NAP1L1	HGNC	HGNC:7637	protein_coding	YES	CCDS9013.1	ENSP00000477538	P55209	A0A024RBB7	UPI0000052A55				5/15		hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF70,Pfam_domain:PF00956,Superfamily_domains:SSF143113																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	76060155	76060155	G	A	1	0	0	0	0	0	1	0	0	10165	1299	45	3		3	NAP1L1	12	76060155	Nonsense_Mutation	SNP	G	C3L-00144_TP	3682111	76060155	57215154	1216	5495											
NAV3	0	.	GRCh38	chr12	78050049	78050049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacatagcagacttgaggCagaatttagaagagactatg	18	8	10	5	0	0	5	0	1	0	4	0	6	0	5	0	1	2	2	0	1	7	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2080C>A	p.Gln694Lys	p.Q694K	ENST00000397909	10/40	260	230	30	237	237	0	strelka-varscan-mutect	NAV3,missense_variant,p.Gln694Lys,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Gln694Lys,ENST00000536525,NM_014903.5;NAV3,downstream_gene_variant,,ENST00000549464,;RP11-136F16.1,downstream_gene_variant,,ENST00000549103,;	A	ENST00000397909	Transcript	missense_variant	2253/9821	2080/7158	694/2385	Q/K	Cag/Aag		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	deleterious(0)		10/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	78050049	78050049	C	A	1	0	0	0	0	1	0	0	0	10194	711	25	2		2	NAV3	12	78050049	Missense_Mutation	SNP	C	C3L-00144_TP	1989894	78050049	55225260	1217	5496											
TMTC2	0	.	GRCh38	chr12	82857527	82857527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcagcagtttatgatGtctttgtctttcacaggctg	7	17	9	8	0	4	1	2	1	2	0	4	1	4	1	0	1	1	4	0	1	1	5	rs764991903		C3L-00144_TP	C3L-00144_NB	G	G																c.601G>C	p.Val201Leu	p.V201L	ENST00000321196	2/12	92	82	10	122	122	0	strelka-varscan-mutect	TMTC2,missense_variant,p.Val195Leu,ENST00000549919,;TMTC2,missense_variant,p.Val201Leu,ENST00000321196,NM_152588.1;TMTC2,missense_variant,p.Val201Leu,ENST00000548305,NM_001320322.1;TMTC2,non_coding_transcript_exon_variant,,ENST00000551915,;TMTC2,intron_variant,,ENST00000546590,NM_001320321.1;	C	ENST00000321196	Transcript	missense_variant	1308/5681	601/2511	201/836	V/L	Gtc/Ctc	rs764991903	1		1	TMTC2	HGNC	HGNC:25440	protein_coding	YES	CCDS9025.1	ENSP00000322300	Q8N394		UPI0000073F0F	NM_152588.1	tolerated(0.62)		2/12		Transmembrane_helices:TMhelix,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF390																	MODERATE	1	SNV	1			1										PASS		rs764991903	.												C	3	2	12	82857527	82857527	G	C	1	0	0	0	0	1	0	0	0	16735	1377	48	4		4	TMTC2	12	82857527	Missense_Mutation	SNP	G	C3L-00144_TP	4807478	82857527	50417782	1218	5497											
MGAT4C	0	.	GRCh38	chr12	85980197	85980197	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctaggattgggtaatactCctctggagcatgtataacca	12	12	9	8	0	2	0	0	0	2	0	3	2	3	2	2	3	3	3	2	3	5	6			C3L-00144_TP	C3L-00144_NB	C	C																c.529G>T	p.Glu177Ter	p.E177*	ENST00000611864	4/4	155	126	29	126	125	1	strelka-varscan-mutect	MGAT4C,stop_gained,p.Glu177Ter,ENST00000611864,;MGAT4C,stop_gained,p.Glu177Ter,ENST00000620241,;MGAT4C,stop_gained,p.Glu177Ter,ENST00000621808,NM_013244.3;MGAT4C,stop_gained,p.Glu177Ter,ENST00000548651,;MGAT4C,stop_gained,p.Glu177Ter,ENST00000552808,;MGAT4C,stop_gained,p.Glu177Ter,ENST00000547225,;MGAT4C,intron_variant,,ENST00000552435,;	A	ENST00000611864	Transcript	stop_gained	585/25116	529/1437	177/478	E/*	Gag/Tag	COSM3466177,COSM4897993	1		-1	MGAT4C	HGNC	HGNC:30871	protein_coding	YES	CCDS9030.1	ENSP00000481096	Q9UBM8		UPI00001B002C				4/4		Pfam_domain:PF04666,hmmpanther:PTHR12062,hmmpanther:PTHR12062:SF14											1,1						HIGH	1	SNV	5		1,1	1										PASS		.	.												A	4	1	12	85980197	85980197	C	A	1	0	0	0	0	0	1	0	0	9507	864	30	2		2	MGAT4C	12	85980197	Nonsense_Mutation	SNP	C	C3L-00144_TP	3122670	85980197	47295112	1219	5498											
DCN	0	.	GRCh38	chr12	91151789	91151790	+	Frame_Shift_Ins	INS	-	-	A																															tgctgttgaaactcaatcccINSaacctgcaacagaaagcaga																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.749dupT	p.Leu250PhefsTer12	p.L250Ffs*12	ENST00000052754	7/8	353	300	53	345	345	0	sindel-varindel-pindel	DCN,frameshift_variant,p.Leu250PhefsTer12,ENST00000052754,NM_001920.3;DCN,frameshift_variant,p.Leu250PhefsTer12,ENST00000393155,NM_133503.2;DCN,frameshift_variant,p.Leu250PhefsTer12,ENST00000552962,;DCN,frameshift_variant,p.Leu103PhefsTer12,ENST00000425043,NM_133505.2;DCN,frameshift_variant,p.Leu20PhefsTer12,ENST00000550758,;DCN,frameshift_variant,p.Leu103PhefsTer12,ENST00000547568,;DCN,frameshift_variant,p.Leu141PhefsTer12,ENST00000420120,NM_133504.2;DCN,frameshift_variant,p.Leu103PhefsTer12,ENST00000546391,;DCN,intron_variant,,ENST00000441303,NM_133506.2;DCN,intron_variant,,ENST00000456569,NM_133507.2;	A	ENST00000052754	Transcript	frameshift_variant	1251-1252/7156	749-750/1080	250/359	L/FX	ttg/ttTg		1		-1	DCN	HGNC	HGNC:2705	protein_coding	YES	CCDS9039.1	ENSP00000052754	P07585	Q6FH10	UPI000013187E	NM_001920.3			7/8		Low_complexity_(Seg):seg,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF5,PIRSF_domain:PIRSF002490,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	12	91151789	91151789	-	A	1	0	1	1	0	0	0	0	0	4099	608	21	0		0	DCN	12	91151789	Frame_Shift_Ins	INS	-	C3L-00144_TP	5171592	91151789	42123520	1220	5499											
C12orf74	0	.	GRCh38	chr12	92707138	92707138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacgacaccctagtcctcaGgtaacacagctctaagcctc	11	8	6	16	1	2	0	1	0	1	0	4	1	3	0	3	1	4	2	3	1	4	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.507G>T	p.Gln169His	p.Q169H	ENST00000397833	2/3	92	69	23	73	73	0	strelka-varscan-mutect	C12orf74,missense_variant,p.Gln169His,ENST00000544406,NM_001178097.2;C12orf74,missense_variant,p.Gln169His,ENST00000397833,NM_001037671.3;	T	ENST00000397833	Transcript	missense_variant,splice_region_variant	958/1856	507/573	169/190	Q/H	caG/caT		1		1	C12orf74	HGNC	HGNC:27887	protein_coding	YES	CCDS41819.1	ENSP00000380933	Q32Q52		UPI00005DB386	NM_001037671.3	deleterious(0)		2/3		Pfam_domain:PF15720,hmmpanther:PTHR41399																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	92707138	92707138	G	T	1	0	0	0	0	1	0	0	0	1823	1014	35	2		2	C12orf74	12	92707138	Missense_Mutation	SNP	G	C3L-00144_TP	1555349	92707138	40568171	1221	5500											
FGD6	0	.	GRCh38	chr12	95209020	95209020	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtactctggtatttccTcataatggcgtatattttca	8	18	6	9	2	4	0	2	0	2	0	6	0	5	0	1	2	1	3	1	2	5	8	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2264A>T	p.Glu755Val	p.E755V	ENST00000343958	2/21	385	335	50	361	361	0	strelka-varscan-mutect	FGD6,missense_variant,p.Glu755Val,ENST00000343958,NM_018351.3;FGD6,missense_variant,p.Glu755Val,ENST00000546711,;FGD6,missense_variant,p.Glu755Val,ENST00000549499,;FGD6,upstream_gene_variant,,ENST00000550368,;FGD6,intron_variant,,ENST00000451107,;	A	ENST00000343958	Transcript	missense_variant	2488/9288	2264/4293	755/1430	E/V	gAg/gTg		1		-1	FGD6	HGNC	HGNC:21740	protein_coding	YES	CCDS31878.1	ENSP00000344446	Q6ZV73		UPI00001FB2F4	NM_018351.3	deleterious(0)		2/21		hmmpanther:PTHR12673:SF12,hmmpanther:PTHR12673																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	95209020	95209020	T	A	1	0	0	0	0	1	0	0	0	5701	1551	54	4		4	FGD6	12	95209020	Missense_Mutation	SNP	T	C3L-00144_TP	2501882	95209020	38066289	1222	5501											
ANKS1B	0	.	GRCh38	chr12	98781193	98781193	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggaccttcttcatttgcTctgtagacttctgaaattaa	10	16	7	8	0	4	2	1	1	3	1	4	3	4	3	1	1	1	2	1	1	4	7	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.3290A>T	p.Glu1097Val	p.E1097V	ENST00000547776	23/26	159	130	29	113	113	0	strelka-varscan-mutect	ANKS1B,missense_variant,p.Glu1097Val,ENST00000547776,NM_152788.4;ANKS1B,missense_variant,p.Glu287Val,ENST00000550693,NM_001204069.1;ANKS1B,missense_variant,p.Glu347Val,ENST00000549493,NM_181670.3;ANKS1B,missense_variant,p.Glu195Val,ENST00000549025,NM_001204066.1;ANKS1B,missense_variant,p.Glu613Val,ENST00000547010,;ANKS1B,missense_variant,p.Glu263Val,ENST00000549558,NM_020140.3;ANKS1B,missense_variant,p.Glu103Val,ENST00000341752,NM_001204081.1;ANKS1B,missense_variant,p.Glu369Val,ENST00000550778,;ANKS1B,missense_variant,p.Glu232Val,ENST00000547446,NM_001204067.1;ANKS1B,missense_variant,p.Glu127Val,ENST00000333732,NM_001204079.1,NM_001204080.1,NM_001204065.1;ANKS1B,missense_variant,p.Glu323Val,ENST00000546960,NM_001204068.1;ANKS1B,missense_variant,p.Glu263Val,ENST00000546568,NM_001204070.1;ANKS1B,missense_variant,p.Glu126Val,ENST00000546364,;ANKS1B,non_coding_transcript_exon_variant,,ENST00000549315,;ANKS1B,missense_variant,p.Ser106Cys,ENST00000547362,;	A	ENST00000547776	Transcript	missense_variant	3290/3885	3290/3747	1097/1248	E/V	gAg/gTg		1		-1	ANKS1B	HGNC	HGNC:24600	protein_coding	YES	CCDS55872.1	ENSP00000449629	Q7Z6G8		UPI00003FE521	NM_152788.4	deleterious(0)		23/26		Gene3D:2.30.29.30,Pfam_domain:PF00640,PROSITE_profiles:PS01179,hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3,SMART_domains:SM00462,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	98781193	98781193	T	A	1	0	0	0	0	1	0	0	0	795	1551	54	4		4	ANKS1B	12	98781193	Missense_Mutation	SNP	T	C3L-00144_TP	3572173	98781193	34494116	1223	5502											
ANO4	0	.	GRCh38	chr12	100971352	100971352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgaagttgcatgcccCatgggaagtccttggaagat	9	12	12	8	0	0	2	0	1	0	1	1	4	1	4	3	2	2	2	3	2	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.503C>G	p.Pro168Arg	p.P168R	ENST00000392977	6/28	233	215	18	166	166	0	strelka-varscan-mutect	ANO4,missense_variant,p.Pro133Arg,ENST00000392979,NM_178826.3;ANO4,missense_variant,p.Pro168Arg,ENST00000392977,NM_001286615.1,NM_001286616.1;ANO4,missense_variant,p.Pro168Arg,ENST00000549155,;	G	ENST00000392977	Transcript	missense_variant	713/3509	503/2868	168/955	P/R	cCa/cGa		1		1	ANO4	HGNC	HGNC:23837	protein_coding	YES	CCDS66445.1	ENSP00000376703	Q32M45		UPI0000577AB6	NM_001286615.1,NM_001286616.1	deleterious(0)		6/28		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Pfam_domain:PF16178																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	12	100971352	100971352	C	G	1	0	0	0	0	1	0	0	0	806	594	21	4		4	ANO4	12	100971352	Missense_Mutation	SNP	C	C3L-00144_TP	2190159	100971352	32303957	1224	5503											
MYBPC1	0	.	GRCh38	chr12	101629437	101629437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctttctgctcatcagactGgacccttgtcgaaactcctc	7	13	6	15	1	3	1	2	0	1	1	7	3	5	2	3	1	2	1	3	1	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.107G>T	p.Trp36Leu	p.W36L	ENST00000452455	4/30	448	410	38	393	391	2	strelka-varscan-mutect	MYBPC1,missense_variant,p.Trp49Leu,ENST00000549145,;MYBPC1,missense_variant,p.Trp61Leu,ENST00000361466,NM_002465.3;MYBPC1,missense_variant,p.Trp61Leu,ENST00000361685,NM_206819.2;MYBPC1,missense_variant,p.Trp36Leu,ENST00000452455,NM_001254718.1;MYBPC1,missense_variant,p.Trp10Leu,ENST00000547405,NM_001254722.1;MYBPC1,missense_variant,p.Trp36Leu,ENST00000553190,NM_206821.2;MYBPC1,missense_variant,p.Trp22Leu,ENST00000547509,;MYBPC1,missense_variant,p.Trp23Leu,ENST00000392934,NM_001254723.1;MYBPC1,missense_variant,p.Trp36Leu,ENST00000545503,NM_001254719.1;MYBPC1,missense_variant,p.Trp24Leu,ENST00000541119,NM_001254720.1;MYBPC1,missense_variant,p.Trp36Leu,ENST00000536007,NM_001254721.1;MYBPC1,missense_variant,p.Trp36Leu,ENST00000550270,NM_206820.2;MYBPC1,5_prime_UTR_variant,,ENST00000551300,;MYBPC1,5_prime_UTR_variant,,ENST00000550514,;MYBPC1,intron_variant,,ENST00000550501,;MYBPC1,non_coding_transcript_exon_variant,,ENST00000550312,;MYBPC1,non_coding_transcript_exon_variant,,ENST00000548834,;MYBPC1,non_coding_transcript_exon_variant,,ENST00000552198,;MYBPC1,downstream_gene_variant,,ENST00000547627,;	T	ENST00000452455	Transcript	missense_variant	209/3861	107/3522	36/1173	W/L	tGg/tTg		1		1	MYBPC1	HGNC	HGNC:7549	protein_coding	YES	CCDS58268.1	ENSP00000400908	Q00872		UPI0001AE6B26	NM_001254718.1	tolerated(0.31)		4/30																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	101629437	101629437	G	T	1	0	0	0	0	1	0	0	0	10011	1362	47	2		2	MYBPC1	12	101629437	Missense_Mutation	SNP	G	C3L-00144_TP	658085	101629437	31645872	1225	5504											
STAB2	0	.	GRCh38	chr12	103758238	103758238	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacctgactgacctgtcCatccgcggcaccctctttgt	7	10	8	16	2	1	2	0	2	1	0	3	3	3	2	5	1	1	1	5	1	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.7056C>A	p.=	p.S2352S	ENST00000388887	64/69	262	247	15	262	261	1	strelka-varscan-mutect	STAB2,synonymous_variant,p.=,ENST00000388887,NM_017564.9;RP11-341G23.4,intron_variant,,ENST00000551299,;STAB2,non_coding_transcript_exon_variant,,ENST00000548073,;STAB2,non_coding_transcript_exon_variant,,ENST00000548579,;	A	ENST00000388887	Transcript	synonymous_variant	7260/8251	7056/7656	2352/2551	S	tcC/tcA		1		1	STAB2	HGNC	HGNC:18629	protein_coding	YES	CCDS31888.1	ENSP00000373539	Q8WWQ8		UPI00001ADDF4	NM_017564.9			64/69		PROSITE_profiles:PS50213,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Superfamily_domains:SSF82153																	LOW	1	SNV	1			1										PASS		rs960154535	.												A	2	1	12	103758238	103758238	C	A	1	0	0	0	0	0	0	0	1	15616	581	21	2		2	STAB2	12	103758238	Silent	SNP	C	C3L-00144_TP	2128801	103758238	29517071	1226	5505											
SLC41A2	0	.	GRCh38	chr12	104805168	104805168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttattagtctccaacatctCcatctcgatctccaataagc	11	14	3	13	1	4	0	0	0	4	0	8	1	4	0	3	0	2	0	3	0	5	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1706G>A	p.Gly569Glu	p.G569E	ENST00000258538	10/10	65	51	14	63	63	0	strelka-varscan-mutect	SLC41A2,missense_variant,p.Gly569Glu,ENST00000258538,NM_032148.3;SLC41A2,non_coding_transcript_exon_variant,,ENST00000549713,;	T	ENST00000258538	Transcript	missense_variant	1834/4449	1706/1722	569/573	G/E	gGa/gAa		1		-1	SLC41A2	HGNC	HGNC:31045	protein_coding	YES	CCDS9100.2	ENSP00000258538	Q96JW4		UPI00001FB431	NM_032148.3	tolerated(0.06)		10/10		hmmpanther:PTHR16228,hmmpanther:PTHR16228:SF25																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	104805168	104805168	C	T	1	0	0	0	0	1	0	0	0	14908	855	30	3		3	SLC41A2	12	104805168	Missense_Mutation	SNP	C	C3L-00144_TP	1046930	104805168	28470141	1227	5506											
RFX4	0	.	GRCh38	chr12	106720041	106720041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggataccatggttgaccGctgtgttgtgaaggttggta	7	13	15	6	1	0	2	0	2	0	0	0	3	0	3	2	4	1	6	2	4	3	5	rs773180417		C3L-00144_TP	C3L-00144_NB	G	G																c.1247G>A	p.Arg416His	p.R416H	ENST00000357881	12/18	150	130	20	133	132	1	strelka-varscan-mutect	RFX4,missense_variant,p.Arg407His,ENST00000392842,NM_213594.2;RFX4,missense_variant,p.Arg313His,ENST00000229387,NM_032491.5;RFX4,missense_variant,p.Arg416His,ENST00000357881,NM_001206691.1;RFX4,downstream_gene_variant,,ENST00000539967,;RP11-482D24.3,intron_variant,,ENST00000552415,;RP11-144F15.1,intron_variant,,ENST00000551505,;RP11-144F15.1,intron_variant,,ENST00000549203,;RFX4,non_coding_transcript_exon_variant,,ENST00000536688,;RFX4,downstream_gene_variant,,ENST00000536722,;	A	ENST00000357881	Transcript	missense_variant	1387/2565	1247/2235	416/744	R/H	cGc/cAc	rs773180417	1		1	RFX4	HGNC	HGNC:9985	protein_coding	YES	CCDS55880.1	ENSP00000350552	Q33E94		UPI00001FB460	NM_001206691.1	tolerated(0.13)		12/18		hmmpanther:PTHR12619:SF25,hmmpanther:PTHR12619																	MODERATE	1	SNV	1			1										PASS		rs773180417	.												A	3	1	12	106720041	106720041	G	A	1	0	0	0	0	1	0	0	0	13439	1087	38	1		1	RFX4	12	106720041	Missense_Mutation	SNP	G	C3L-00144_TP	1914873	106720041	26555268	1228	5507											
PWP1	0	.	GRCh38	chr12	107710501	107710501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctgggatataagcacaGtctcttcaggtaaggatttt	10	13	12	6	0	3	0	1	0	2	0	4	2	3	2	0	4	1	2	0	4	3	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1387G>T	p.Val463Phe	p.V463F	ENST00000412830	14/15	174	163	11	115	115	0	strelka-varscan-mutect	PWP1,missense_variant,p.Val463Phe,ENST00000412830,NM_001317962.1,NM_007062.1;PWP1,missense_variant,p.Val401Phe,ENST00000541166,;	T	ENST00000412830	Transcript	missense_variant	1555/2621	1387/1506	463/501	V/F	Gtc/Ttc		1		1	PWP1	HGNC	HGNC:17015	protein_coding	YES	CCDS9114.1	ENSP00000387365	Q13610	A0A024RBH5	UPI0000132B9C	NM_001317962.1,NM_007062.1	tolerated(0.11)		14/15		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR14091																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	107710501	107710501	G	T	1	0	0	0	0	1	0	0	0	12997	1029	36	2		2	PWP1	12	107710501	Missense_Mutation	SNP	G	C3L-00144_TP	990460	107710501	25564808	1229	5508											
ASCL4	0	.	GRCh38	chr12	107775278	107775278	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tactcgctgcgcaccgcgccCctgggcgttccggggaccct	3	7	13	18	6	0	0	0	0	0	0	2	1	1	1	5	3	2	3	5	3	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.63C>A	p.=	p.P21P	ENST00000342331	1/1	209	166	43	185	184	1	strelka-varscan-mutect	ASCL4,synonymous_variant,p.=,ENST00000342331,NM_203436.2;	A	ENST00000342331	Transcript	synonymous_variant	894/2260	63/522	21/173	P	ccC/ccA		1		1	ASCL4	HGNC	HGNC:24311	protein_coding	YES	CCDS31894.2	ENSP00000345420	Q6XD76		UPI00001973FA	NM_203436.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR13935,hmmpanther:PTHR13935:SF51																	LOW	1	SNV				1										PASS		rs1262408633	.												A	2	1	12	107775278	107775278	C	A	1	0	0	0	0	0	0	0	1	1178	610	22	2		2	ASCL4	12	107775278	Silent	SNP	C	C3L-00144_TP	64777	107775278	25500031	1230	5509											
CMKLR1	0	.	GRCh38	chr12	108292477	108292477	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaagccaggacccagatGaccatgcaggccatgtaagc	15	4	11	11	0	0	3	0	1	0	2	0	4	0	4	4	2	3	2	4	2	3	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.486C>G	p.=	p.V162V	ENST00000312143	3/3	141	131	10	108	108	0	strelka-varscan-mutect	CMKLR1,synonymous_variant,p.=,ENST00000312143,NM_001142344.1;CMKLR1,synonymous_variant,p.=,ENST00000412676,NM_001142345.1;CMKLR1,synonymous_variant,p.=,ENST00000550402,NM_001142343.1;CMKLR1,synonymous_variant,p.=,ENST00000552995,NM_004072.2;CMKLR1,downstream_gene_variant,,ENST00000550573,;CMKLR1,downstream_gene_variant,,ENST00000549466,;	C	ENST00000312143	Transcript	synonymous_variant	850/5283	486/1122	162/373	V	gtC/gtG		1		-1	CMKLR1	HGNC	HGNC:2121	protein_coding	YES	CCDS44965.1	ENSP00000311733	Q99788		UPI0000127BD4	NM_001142344.1			3/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF696,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	12	108292477	108292477	G	C	1	0	0	0	0	0	0	0	1	3354	1277	45	4		4	CMKLR1	12	108292477	Silent	SNP	G	C3L-00144_TP	517199	108292477	24982832	1231	5510											
ACACB	0	.	GRCh38	chr12	109216654	109216654	+	Silent	SNP	G	G	T																															cgcggctatatgaaaacagtGgtgttggatctcctgagaag																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3387G>T	p.=	p.V1129V	ENST00000338432	23/53	255	234	21	217	217	0	strelka-varscan-mutect	ACACB,synonymous_variant,p.=,ENST00000338432,;ACACB,synonymous_variant,p.=,ENST00000377848,NM_001093.3;ACACB,5_prime_UTR_variant,,ENST00000377854,;	T	ENST00000338432	Transcript	synonymous_variant	3506/9360	3387/7377	1129/2458	V	gtG/gtT		1		1	ACACB	HGNC	HGNC:85	protein_coding	YES	CCDS31898.1	ENSP00000341044	O00763		UPI0000DBEEFB				23/53		Low_complexity_(Seg):seg,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF94,Pfam_domain:PF08326																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	109216654	109216654	G	T	1	0	0	0	0	0	0	0	1	150	1335	47	2		2	ACACB	12	109216654	Silent	SNP	G	C3L-00144_TP	924177	109216654	24058655	1232	5511	123	2									
ACACB	0	.	GRCh38	chr12	109216655	109216655	+	Missense_Mutation	SNP	G	G	T																															gcggctatatgaaaacagtgGtgttggatctcctgagaaga																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3388G>T	p.Val1130Leu	p.V1130L	ENST00000338432	23/53	256	237	19	221	220	1	strelka-varscan-mutect	ACACB,missense_variant,p.Val1130Leu,ENST00000338432,;ACACB,missense_variant,p.Val1130Leu,ENST00000377848,NM_001093.3;ACACB,5_prime_UTR_variant,,ENST00000377854,;	T	ENST00000338432	Transcript	missense_variant	3507/9360	3388/7377	1130/2458	V/L	Gtg/Ttg		1		1	ACACB	HGNC	HGNC:85	protein_coding	YES	CCDS31898.1	ENSP00000341044	O00763		UPI0000DBEEFB		tolerated(0.19)		23/53		Low_complexity_(Seg):seg,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF94,Pfam_domain:PF08326																	MODERATE	1	SNV	1			1										PASS		rs1368571140	.												T	3	4	12	109216655	109216655	G	T	1	0	0	0	0	1	0	0	0	150	1261	44	2		2	ACACB	12	109216655	Missense_Mutation	SNP	G	C3L-00144_TP	1	109216655	24058654	1233	5512	123	2									
SDS	0	.	GRCh38	chr12	113398835	113398835	+	Missense_Mutation	SNP	C	C	A																															cgcatatgcagccgccatgcCtgcgttgcccgctgccaggg																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.205G>T	p.Gly69Cys	p.G69C	ENST00000257549	4/8	65	55	10	88	88	0	strelka-varscan-mutect	SDS,missense_variant,p.Gly69Cys,ENST00000257549,NM_006843.2;SDS,missense_variant,p.Gly163Cys,ENST00000547342,;SDS,intron_variant,,ENST00000552280,;SDS,non_coding_transcript_exon_variant,,ENST00000553112,;SDS,downstream_gene_variant,,ENST00000546639,;SDS,downstream_gene_variant,,ENST00000546785,;	A	ENST00000257549	Transcript	missense_variant	328/1606	205/987	69/328	G/C	Ggc/Tgc		1		-1	SDS	HGNC	HGNC:10691	protein_coding	YES	CCDS9169.1	ENSP00000257549	P20132		UPI000013CF6B	NM_006843.2	deleterious(0)		4/8		Low_complexity_(Seg):seg,hmmpanther:PTHR10314:SF103,hmmpanther:PTHR10314,Gene3D:3.40.50.1100,Pfam_domain:PF00291,Superfamily_domains:SSF53686																	MODERATE	1	SNV	2			1										PASS		rs1232014554	.												A	3	1	12	113398835	113398835	C	A	1	0	0	0	0	1	0	0	0	14251	681	24	2		2	SDS	12	113398835	Missense_Mutation	SNP	C	C3L-00144_TP	4182180	113398835	19876474	1234	5513	124	2									
SDS	0	.	GRCh38	chr12	113398837	113398837	+	Missense_Mutation	SNP	G	G	T																															catatgcagccgccatgcctGcgttgcccgctgccagggtc																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.203C>A	p.Ala68Glu	p.A68E	ENST00000257549	4/8	68	57	11	86	85	1	strelka-varscan-mutect	SDS,missense_variant,p.Ala68Glu,ENST00000257549,NM_006843.2;SDS,missense_variant,p.Ala162Glu,ENST00000547342,;SDS,intron_variant,,ENST00000552280,;SDS,non_coding_transcript_exon_variant,,ENST00000553112,;SDS,non_coding_transcript_exon_variant,,ENST00000546639,;SDS,downstream_gene_variant,,ENST00000546785,;	T	ENST00000257549	Transcript	missense_variant	326/1606	203/987	68/328	A/E	gCa/gAa		1		-1	SDS	HGNC	HGNC:10691	protein_coding	YES	CCDS9169.1	ENSP00000257549	P20132		UPI000013CF6B	NM_006843.2	deleterious(0)		4/8		Low_complexity_(Seg):seg,hmmpanther:PTHR10314:SF103,hmmpanther:PTHR10314,Gene3D:3.40.50.1100,Pfam_domain:PF00291,Superfamily_domains:SSF53686																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	113398837	113398837	G	T	1	0	0	0	0	1	0	0	0	14251	1319	46	2		2	SDS	12	113398837	Missense_Mutation	SNP	G	C3L-00144_TP	2	113398837	19876472	1235	5514	124	2									
TBX5	0	.	GRCh38	chr12	114356087	114356087	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttatagggatggtcTgtggtggaacattcttcctc	6	15	12	8	0	3	0	0	0	3	0	5	2	4	2	1	5	1	1	1	5	3	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1002A>T	p.=	p.T334T	ENST00000310346	9/9	381	334	47	351	350	1	strelka-varscan-mutect	TBX5,synonymous_variant,p.=,ENST00000310346,NM_000192.3;TBX5,synonymous_variant,p.=,ENST00000349716,NM_080717.2;TBX5,synonymous_variant,p.=,ENST00000405440,NM_181486.2;	A	ENST00000310346	Transcript	synonymous_variant	1669/3825	1002/1557	334/518	T	acA/acT		1		-1	TBX5	HGNC	HGNC:11604	protein_coding	YES	CCDS9173.1	ENSP00000309913	Q99593		UPI0000136AA2	NM_000192.3			9/9		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	114356087	114356087	T	A	1	0	0	0	0	0	0	0	1	16065	1567	55	4		4	TBX5	12	114356087	Silent	SNP	T	C3L-00144_TP	957250	114356087	18919222	1236	5515											
NOS1	0	.	GRCh38	chr12	117280863	117280863	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggaatatggtgatggcAgacctgtggtggagagaggg	9	8	21	3	0	0	3	0	1	0	2	0	6	0	5	1	7	0	1	1	7	2	1	rs777714218		C3L-00144_TP	C3L-00144_NB	A	A																c.1386T>A	p.=	p.S462S	ENST00000618760	8/30	112	98	14	120	120	0	strelka-varscan-mutect	NOS1,synonymous_variant,p.=,ENST00000618760,NM_001204218.1;NOS1,synonymous_variant,p.=,ENST00000317775,NM_001204214.1,NM_000620.4,NM_001204213.1;NOS1,synonymous_variant,p.=,ENST00000338101,;NOS1,synonymous_variant,p.=,ENST00000344089,;	T	ENST00000618760	Transcript	synonymous_variant	2097/12283	1386/4407	462/1468	S	tcT/tcA	rs777714218	1		-1	NOS1	HGNC	HGNC:7872	protein_coding	YES	CCDS55890.1	ENSP00000477999	P29475		UPI00001FBC10	NM_001204218.1			8/30		Pfam_domain:PF02898,Gene3D:3.90.340.10,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512																	LOW	1	SNV	5			1										PASS		rs777714218	.												T	2	4	12	117280863	117280863	A	T	1	0	0	0	0	0	0	0	1	10586	202	7	4		4	NOS1	12	117280863	Silent	SNP	A	C3L-00144_TP	2924776	117280863	15994446	1237	5516											
HSPB8	0	.	GRCh38	chr12	119193816	119193816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggagagagcagtttcaaCaacgagcttccccaggacag	12	8	11	10	1	1	1	1	0	0	1	2	5	2	3	2	2	4	3	2	2	2	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.549C>T	p.=	p.N183N	ENST00000281938	3/3	563	490	73	468	468	0	strelka-varscan-mutect	HSPB8,synonymous_variant,p.=,ENST00000281938,NM_014365.2;HSPB8,intron_variant,,ENST00000541798,;HSPB8,non_coding_transcript_exon_variant,,ENST00000542496,;RP11-64B16.2,upstream_gene_variant,,ENST00000392530,;	T	ENST00000281938	Transcript	synonymous_variant	1220/2152	549/591	183/196	N	aaC/aaT		1		1	HSPB8	HGNC	HGNC:30171	protein_coding	YES	CCDS9189.1	ENSP00000281938	Q9UJY1		UPI0000037C1B	NM_014365.2			3/3		hmmpanther:PTHR11527,hmmpanther:PTHR11527:SF157																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	119193816	119193816	C	T	1	0	0	0	0	0	0	0	1	7320	477	17	3		3	HSPB8	12	119193816	Silent	SNP	C	C3L-00144_TP	1912953	119193816	14081493	1238	5517											
CIT	0	.	GRCh38	chr12	119690317	119690317	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacttgtccctgcgcagcTcggtccgcccctcgcggtag	4	8	13	16	5	0	1	0	0	0	1	4	2	2	1	4	2	2	3	4	2	1	2	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.6020A>T	p.Glu2007Val	p.E2007V	ENST00000392521	47/48	188	149	39	193	193	0	strelka-varscan-mutect	CIT,missense_variant,p.Glu2007Val,ENST00000392521,NM_001206999.1;CIT,missense_variant,p.Glu1965Val,ENST00000261833,NM_007174.2;CIT,missense_variant,p.Glu1578Val,ENST00000392520,;CIT,intron_variant,,ENST00000612548,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,downstream_gene_variant,,ENST00000469414,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;CIT,downstream_gene_variant,,ENST00000544872,;	A	ENST00000392521	Transcript	missense_variant	6076/8708	6020/6210	2007/2069	E/V	gAg/gTg		1		-1	CIT	HGNC	HGNC:1985	protein_coding	YES	CCDS55891.1	ENSP00000376306	O14578		UPI0000683C41	NM_001206999.1	deleterious_low_confidence(0)		47/48		PIRSF_domain:PIRSF038145,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	119690317	119690317	T	A	1	0	0	0	0	1	0	0	0	3201	1551	54	4		4	CIT	12	119690317	Missense_Mutation	SNP	T	C3L-00144_TP	496501	119690317	13584992	1239	5518											
SETD1B	0	.	GRCh38	chr12	121814258	121814258	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagccccaaccctgccgctGcccccgccacctggcttccc	4	6	7	24	2	0	0	0	0	0	0	1	0	1	0	9	1	4	2	9	1	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2043G>T	p.=	p.L681L	ENST00000542440	7/18	71	65	6	65	65	0	strelka-mutect	SETD1B,synonymous_variant,p.=,ENST00000542440,NM_015048.1;SETD1B,synonymous_variant,p.=,ENST00000604567,;SETD1B,synonymous_variant,p.=,ENST00000619791,;SETD1B,synonymous_variant,p.=,ENST00000267197,;	T	ENST00000542440	Transcript	synonymous_variant	2111/8185	2043/5772	681/1923	L	ctG/ctT		1		1	SETD1B	HGNC	HGNC:29187	protein_coding	YES	CCDS53838.1	ENSP00000442924	Q9UPS6		UPI00006C12ED	NM_015048.1			7/18		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF296,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	12	121814258	121814258	G	T	1	0	0	0	0	0	0	0	1	14408	1306	46	2		2	SETD1B	12	121814258	Silent	SNP	G	C3L-00144_TP	2123941	121814258	11461051	1240	5519											
IL31	0	.	GRCh38	chr12	122172717	122172717	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgtaattctgggacaCgagcacgcccttctcttcct	7	11	9	14	3	2	0	0	0	2	0	4	2	3	1	2	1	2	2	2	1	1	4	rs148866660		C3L-00144_TP	C3L-00144_NB	C	C																c.190G>C	p.Val64Leu	p.V64L	ENST00000377035	3/3	81	73	8	93	93	0	strelka-varscan-mutect	IL31,missense_variant,p.Val64Leu,ENST00000377035,NM_001014336.1;LRRC43,intron_variant,,ENST00000537729,;	G	ENST00000377035	Transcript	missense_variant	217/904	190/495	64/164	V/L	Gtg/Ctg	rs148866660	1		-1	IL31	HGNC	HGNC:19372	protein_coding	YES	CCDS31919.1	ENSP00000366234	Q6EBC2		UPI00003BF6FE	NM_001014336.1	tolerated(0.24)		3/3		hmmpanther:PTHR38652:SF1,hmmpanther:PTHR38652,Pfam_domain:PF15209																	MODERATE	1	SNV	1			1										PASS		rs148866660	.												G	3	3	12	122172717	122172717	C	G	1	0	0	0	0	1	0	0	0	7589	536	19	4		4	IL31	12	122172717	Missense_Mutation	SNP	C	C3L-00144_TP	358459	122172717	11102592	1241	5520											
DHX37	0	.	GRCh38	chr12	124964954	124964954	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcttctctggggccagCagagagtacagcgggagcac	8	7	15	11	1	1	1	0	0	1	1	2	3	1	2	1	3	5	5	1	3	1	3	rs759736418		C3L-00144_TP	C3L-00144_NB	C	C																c.1788G>T	p.=	p.L596L	ENST00000308736	14/27	136	126	10	131	130	1	strelka-varscan-mutect	DHX37,missense_variant,p.Cys48Phe,ENST00000543962,;DHX37,synonymous_variant,p.=,ENST00000308736,NM_032656.3;DHX37,synonymous_variant,p.=,ENST00000544745,;DHX37,non_coding_transcript_exon_variant,,ENST00000539298,;	A	ENST00000308736	Transcript	synonymous_variant	1887/4550	1788/3474	596/1157	L	ctG/ctT	rs759736418	1		-1	DHX37	HGNC	HGNC:17210	protein_coding	YES	CCDS9261.1	ENSP00000311135	Q8IY37		UPI00000742DC	NM_032656.3			14/27		Low_complexity_(Seg):seg,PROSITE_profiles:PS51194,hmmpanther:PTHR18934:SF99,hmmpanther:PTHR18934,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs759736418	.												A	2	1	12	124964954	124964954	C	A	1	0	0	0	0	0	0	0	1	4314	697	25	2		2	DHX37	12	124964954	Silent	SNP	C	C3L-00144_TP	2792237	124964954	8310355	1242	5521											
BRI3BP	0	.	GRCh38	chr12	125025183	125025183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctgttttccatgtcctGcgtgtacatcctgcacaagt	6	14	8	13	2	0	0	0	0	0	0	4	0	4	0	4	0	3	3	4	0	2	3			C3L-00144_TP	C3L-00144_NB	G	G																c.509G>T	p.Cys170Phe	p.C170F	ENST00000341446	3/3	444	390	54	451	448	3	strelka-varscan-mutect	BRI3BP,missense_variant,p.Cys170Phe,ENST00000341446,NM_080626.5;THRIL,downstream_gene_variant,,ENST00000627370,;	T	ENST00000341446	Transcript	missense_variant	600/6648	509/756	170/251	C/F	tGc/tTc	COSM4039988	1		1	BRI3BP	HGNC	HGNC:14251	protein_coding	YES	CCDS9262.1	ENSP00000340761	Q8WY22		UPI000006D8B0	NM_080626.5	tolerated(0.09)		3/3		Transmembrane_helices:TMhelix,hmmpanther:PTHR31253,hmmpanther:PTHR31253:SF0,Pfam_domain:PF14965											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	12	125025183	125025183	G	T	1	0	0	0	0	1	0	0	0	1683	1319	46	2		2	BRI3BP	12	125025183	Missense_Mutation	SNP	G	C3L-00144_TP	60229	125025183	8250126	1243	5522											
TMEM132B	0	.	GRCh38	chr12	125583994	125583994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgatgaagatgtcattaaGgtaaggggggatttatctac	12	11	13	5	1	2	2	1	1	1	1	2	4	2	3	1	4	1	1	1	4	5	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1422G>T	p.Lys474Asn	p.K474N	ENST00000299308	5/9	332	295	37	310	306	4	strelka-varscan-mutect	TMEM132B,missense_variant,p.Lys474Asn,ENST00000299308,NM_052907.3;TMEM132B,non_coding_transcript_exon_variant,,ENST00000534945,;	T	ENST00000299308	Transcript	missense_variant,splice_region_variant	1430/10906	1422/3237	474/1078	K/N	aaG/aaT		1		1	TMEM132B	HGNC	HGNC:29397	protein_coding	YES	CCDS41859.1	ENSP00000299308	Q14DG7		UPI00006BFF58	NM_052907.3	deleterious(0)		5/9		hmmpanther:PTHR13388:SF12,hmmpanther:PTHR13388,Pfam_domain:PF16070																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	125583994	125583994	G	T	1	0	0	0	0	1	0	0	0	16490	1014	35	2		2	TMEM132B	12	125583994	Missense_Mutation	SNP	G	C3L-00144_TP	558811	125583994	7691315	1244	5523											
TMEM132C	0	.	GRCh38	chr12	128706208	128706208	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgtcagcagcaatgatgaGgacatcaaatgggtgtgtca	13	9	12	7	1	3	2	3	2	0	0	4	3	3	3	0	2	2	2	0	2	2	0			C3L-00144_TP	C3L-00144_NB	G	G																c.3240G>A	p.=	p.E1080E	ENST00000435159	9/9	137	110	27	128	128	0	strelka-varscan-mutect	TMEM132C,synonymous_variant,p.=,ENST00000435159,NM_001136103.2;	A	ENST00000435159	Transcript	synonymous_variant	3240/4947	3240/3327	1080/1108	E	gaG/gaA	COSM936897,COSM936898	1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2			9/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4											1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												A	2	1	12	128706208	128706208	G	A	1	0	0	0	0	0	0	0	1	16491	991	35	3		3	TMEM132C	12	128706208	Silent	SNP	G	C3L-00144_TP	3122214	128706208	4569101	1245	5524											
GLT1D1	0	.	GRCh38	chr12	128899246	128899246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttactagatttgctgtcGctttcacagagtcaatgaag	11	14	8	8	1	2	3	2	1	0	2	3	3	2	3	0	0	2	2	0	0	4	5	rs768702559		C3L-00144_TP	C3L-00144_NB	G	G																c.334G>T	p.Ala112Ser	p.A112S	ENST00000281703	4/8	224	200	24	242	241	1	strelka-varscan-mutect	GLT1D1,missense_variant,p.Ala112Ser,ENST00000442111,;GLT1D1,missense_variant,p.Ala112Ser,ENST00000281703,NM_144669.1;GLT1D1,missense_variant,p.Ala101Ser,ENST00000537468,;GLT1D1,missense_variant,p.Ala105Ser,ENST00000413816,;GLT1D1,intron_variant,,ENST00000441390,;GLT1D1,intron_variant,,ENST00000539044,;	T	ENST00000281703	Transcript	missense_variant	380/2725	334/801	112/266	A/S	Gct/Tct	rs768702559	1		1	GLT1D1	HGNC	HGNC:26483	protein_coding	YES	CCDS9265.1	ENSP00000281703	Q96MS3		UPI0000070E33	NM_144669.1	deleterious(0.03)		4/8																			MODERATE	1	SNV	2			1										PASS		rs768702559	.												T	3	4	12	128899246	128899246	G	T	1	0	0	0	0	1	0	0	0	6344	1087	38	1		1	GLT1D1	12	128899246	Missense_Mutation	SNP	G	C3L-00144_TP	193038	128899246	4376063	1246	5525											
TMEM132D	0	.	GRCh38	chr12	129074211	129074211	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccctgtcaatggcagtGatttgctcatcttgcgagga	8	12	11	10	1	3	1	2	1	1	0	3	3	3	2	2	2	3	2	2	2	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2964C>A	p.=	p.I988I	ENST00000422113	9/9	287	262	25	222	222	0	strelka-varscan-mutect	TMEM132D,synonymous_variant,p.=,ENST00000422113,NM_133448.2;TMEM132D,synonymous_variant,p.=,ENST00000389441,;	T	ENST00000422113	Transcript	synonymous_variant	3291/5776	2964/3300	988/1099	I	atC/atA		1		-1	TMEM132D	HGNC	HGNC:29411	protein_coding	YES	CCDS9266.1	ENSP00000408581	Q14C87		UPI000023759C	NM_133448.2			9/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	129074211	129074211	G	T	1	0	0	0	0	0	0	0	1	16492	1280	45	2		2	TMEM132D	12	129074211	Silent	SNP	G	C3L-00144_TP	174965	129074211	4201098	1247	5526											
TMEM132D	0	.	GRCh38	chr12	129700071	129700071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctgacgcagtcccctCtctcaccccctgggtgcacg	4	9	8	20	2	2	1	1	1	1	0	5	1	4	1	5	1	1	2	5	1	0	1	rs560334536		C3L-00144_TP	C3L-00144_NB	C	C																c.707G>T	p.Arg236Ile	p.R236I	ENST00000422113	2/9	325	280	45	327	326	1	strelka-varscan-mutect	TMEM132D,missense_variant,p.Arg236Ile,ENST00000422113,NM_133448.2;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	A	ENST00000422113	Transcript	missense_variant	1034/5776	707/3300	236/1099	R/I	aGa/aTa	rs560334536	1		-1	TMEM132D	HGNC	HGNC:29411	protein_coding	YES	CCDS9266.1	ENSP00000408581	Q14C87		UPI000023759C	NM_133448.2	tolerated(0.08)		2/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF2																	MODERATE	1	SNV	1			1										PASS		rs560334536	.												A	3	1	12	129700071	129700071	C	A	1	0	0	0	0	1	0	0	0	16492	913	32	2		2	TMEM132D	12	129700071	Missense_Mutation	SNP	C	C3L-00144_TP	625860	129700071	3575238	1248	5527											
TMEM132D	0	.	GRCh38	chr12	129700121	129700121	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccacgggggtcccctcCggctggtccacggacttcct	4	8	12	17	3	0	0	0	0	0	0	5	1	5	1	6	5	1	2	6	5	0	1	rs143084996		C3L-00144_TP	C3L-00144_NB	C	C																c.657G>T	p.=	p.P219P	ENST00000422113	2/9	207	167	40	188	188	0	strelka-varscan-mutect	TMEM132D,synonymous_variant,p.=,ENST00000422113,NM_133448.2;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	A	ENST00000422113	Transcript	synonymous_variant	984/5776	657/3300	219/1099	P	ccG/ccT	rs143084996,COSM122066	1		-1	TMEM132D	HGNC	HGNC:29411	protein_coding	YES	CCDS9266.1	ENSP00000408581	Q14C87		UPI000023759C	NM_133448.2			2/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF2											0,1						LOW	1	SNV	1		0,1	1										PASS		rs143084996	.												A	2	1	12	129700121	129700121	C	A	1	0	0	0	0	0	0	0	1	16492	639	23	1		1	TMEM132D	12	129700121	Silent	SNP	C	C3L-00144_TP	50	129700121	3575188	1249	5528											
RIMBP2	0	.	GRCh38	chr12	130441904	130441904	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccctttgctccagcGggagctgccacggcatctgg	4	11	11	15	2	3	0	0	0	3	0	5	1	4	1	3	3	4	3	3	3	0	2	rs777554273		C3L-00144_TP	C3L-00144_NB	G	G																c.1397C>G	p.Pro466Arg	p.P466R	ENST00000261655	8/19	211	166	45	178	178	0	strelka-varscan-mutect	RIMBP2,missense_variant,p.Pro466Arg,ENST00000261655,NM_015347.4;RIMBP2,missense_variant,p.Pro374Arg,ENST00000535703,;	C	ENST00000261655	Transcript	missense_variant	1561/6321	1397/3159	466/1052	P/R	cCg/cGg	rs777554273	1		-1	RIMBP2	HGNC	HGNC:30339	protein_coding	YES	CCDS31925.1	ENSP00000261655	O15034		UPI00001C1F42	NM_015347.4	deleterious(0)		8/19		PROSITE_profiles:PS50853,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18																	MODERATE	1	SNV	1			1										PASS		rs777554273	.												C	3	2	12	130441904	130441904	G	C	1	0	0	0	0	1	0	0	0	13538	1116	39	4		4	RIMBP2	12	130441904	Missense_Mutation	SNP	G	C3L-00144_TP	741783	130441904	2833405	1250	5529											
FBRSL1	0	.	GRCh38	chr12	132572592	132572592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccacaccccggccccttCgggtccctgcagggcgcttt	3	8	10	20	3	0	0	0	0	0	0	3	0	2	0	6	3	1	2	6	3	0	2			C3L-00144_TP	C3L-00144_NB	C	C																c.1554C>A	p.Phe518Leu	p.F518L	ENST00000434748	11/17	235	223	12	212	212	0	strelka-mutect	FBRSL1,missense_variant,p.Phe518Leu,ENST00000434748,NM_001142641.1;FBRSL1,non_coding_transcript_exon_variant,,ENST00000537804,;FBRSL1,non_coding_transcript_exon_variant,,ENST00000543453,;FBRSL1,intron_variant,,ENST00000536075,;FBRSL1,downstream_gene_variant,,ENST00000539264,;FBRSL1,downstream_gene_variant,,ENST00000543360,;FBRSL1,non_coding_transcript_exon_variant,,ENST00000542306,;	A	ENST00000434748	Transcript	missense_variant	2574/5568	1554/3138	518/1045	F/L	ttC/ttA	COSM937232,COSM937233	1		1	FBRSL1	HGNC	HGNC:29308	protein_coding	YES	CCDS45010.1	ENSP00000396160	Q9HCM7		UPI00018830C3	NM_001142641.1	deleterious(0.02)		11/17		hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF20,Low_complexity_(Seg):seg											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs987647453	.												A	3	1	12	132572592	132572592	C	A	1	0	0	0	0	1	0	0	0	5571	883	31	1		1	FBRSL1	12	132572592	Missense_Mutation	SNP	C	C3L-00144_TP	2130688	132572592	702717	1251	5530											
CHFR	0	.	GRCh38	chr12	132862372	132862372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccaaggtgggaggatCacttgatcccaggagtttta	10	9	15	7	0	1	1	1	1	0	0	2	5	2	5	2	6	0	1	2	6	2	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.457G>T	p.Asp153Tyr	p.D153Y	ENST00000266880	6/18	69	54	15	62	62	0	strelka-varscan-mutect	CHFR,missense_variant,p.Asp153Tyr,ENST00000266880,NM_018223.2;CHFR,intron_variant,,ENST00000450056,NM_001161346.1;CHFR,intron_variant,,ENST00000443047,NM_001161347.1;CHFR,intron_variant,,ENST00000432561,NM_001161344.1,NM_001161345.1;CHFR,intron_variant,,ENST00000540963,;CHFR,intron_variant,,ENST00000541817,;RP11-46H11.11,downstream_gene_variant,,ENST00000623177,;CHFR,intron_variant,,ENST00000315585,;CHFR,upstream_gene_variant,,ENST00000535897,;	A	ENST00000266880	Transcript	missense_variant	521/11133	457/1872	153/623	D/Y	Gat/Tat		1		-1	CHFR	HGNC	HGNC:20455	protein_coding		CCDS31937.1	ENSP00000266880	Q96EP1		UPI0000236D67	NM_018223.2	deleterious(0.01)		6/18																			MODERATE		SNV	2			1										PASS		.	.												A	3	1	12	132862372	132862372	C	A	1	0	0	0	0	1	0	0	0	3096	826	29	2		2	CHFR	12	132862372	Missense_Mutation	SNP	C	C3L-00144_TP	289780	132862372	412937	1252	5531											
ANHX	0	.	GRCh38	chr12	133227121	133227121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagttgtacacctgctcaGgggtcaagctcgtctccaat	9	10	9	13	1	3	0	2	0	1	0	5	0	3	0	3	2	3	4	3	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.533C>A	p.Pro178His	p.P178H	ENST00000545940	4/8	125	99	26	82	82	0	strelka-varscan-mutect	ANHX,missense_variant,p.Pro178His,ENST00000545940,;ANHX,missense_variant,p.Pro178His,ENST00000419717,NM_001191054.1;	T	ENST00000545940	Transcript	missense_variant	2272/3452	533/1140	178/379	P/H	cCt/cAt		1		-1	ANHX	HGNC	HGNC:40024	protein_coding	YES	CCDS53855.1	ENSP00000439513	E9PGG2		UPI0001AE6BD3		tolerated(0.16)		4/8		PROSITE_profiles:PS50071,hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF34,PROSITE_patterns:PS00027,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	133227121	133227121	G	T	1	0	0	0	0	1	0	0	0	719	1000	35	2		2	ANHX	12	133227121	Missense_Mutation	SNP	G	C3L-00144_TP	364749	133227121	48188	1253	5532											
ZMYM5	0	.	GRCh38	chr13	19824773	19824773	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggatctagtggttttttCaccatttggaagaatccgtg	9	14	10	8	1	2	1	1	0	1	1	3	3	3	3	3	3	0	1	3	3	3	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1714G>C	p.Glu572Gln	p.E572Q	ENST00000337963	8/8	194	174	20	163	163	0	strelka-varscan-mutect	ZMYM5,missense_variant,p.Glu572Gln,ENST00000337963,NM_001142684.1;ZMYM5,missense_variant,p.Glu562Gln,ENST00000502168,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000535942,;ZMYM5,non_coding_transcript_exon_variant,,ENST00000382909,;	G	ENST00000337963	Transcript	missense_variant	1979/3268	1714/2010	572/669	E/Q	Gaa/Caa		1		-1	ZMYM5	HGNC	HGNC:13029	protein_coding			ENSP00000337034	Q9UJ78		UPI000178DE9C	NM_001142684.1	deleterious(0)		8/8																			MODERATE		SNV	5			1										PASS		rs950018107	.												G	3	3	12	19824773	19824773	C	G	1	0	0	0	0	1	0	0	0	18283	835	29	4		4	ZMYM5	13	19824773	Missense_Mutation	SNP	C	C3L-00144_TP		19824773	94539555	1254	5533											
XPO4	0	.	GRCh38	chr13	20902706	20902706	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttctccagctgagcgatCacttctgggggccccagcgc	5	8	13	15	3	3	1	1	1	2	0	4	2	3	1	3	2	3	2	3	2	0	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.33G>T	p.=	p.V11V	ENST00000255305	1/23	63	54	9	58	58	0	strelka-varscan-mutect	XPO4,synonymous_variant,p.=,ENST00000255305,NM_022459.4;XPO4,synonymous_variant,p.=,ENST00000400602,;XPO4,non_coding_transcript_exon_variant,,ENST00000490513,;XPO4,non_coding_transcript_exon_variant,,ENST00000465018,;	A	ENST00000255305	Transcript	synonymous_variant	105/9921	33/3456	11/1151	V	gtG/gtT		1		-1	XPO4	HGNC	HGNC:17796	protein_coding	YES	CCDS41872.1	ENSP00000255305	Q9C0E2		UPI0000139018	NM_022459.4			1/23		hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF1																	LOW	1	SNV	1			1										PASS		rs1313692426	.												A	2	1	12	20902706	20902706	C	A	1	0	0	0	0	0	0	0	1	18005	813	29	2		2	XPO4	13	20902706	Silent	SNP	C	C3L-00144_TP	1077933	20902706	93461622	1255	5534											
LATS2	0	.	GRCh38	chr13	20983394	20983394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaagtcagctctgcgatgTagaaccgggccaggtgctca	10	7	12	12	2	3	1	2	0	1	1	3	2	3	1	3	2	4	3	3	2	3	1	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2312A>G	p.Tyr771Cys	p.Y771C	ENST00000382592	5/8	248	186	62	228	228	0	strelka-varscan-mutect	LATS2,missense_variant,p.Tyr771Cys,ENST00000382592,NM_014572.2;	C	ENST00000382592	Transcript	missense_variant	2718/5511	2312/3267	771/1088	Y/C	tAc/tGc		1		-1	LATS2	HGNC	HGNC:6515	protein_coding	YES	CCDS9294.1	ENSP00000372035	Q9NRM7	A0A024RDM3	UPI000013DBF5	NM_014572.2	deleterious(0)		5/8		PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF149,hmmpanther:PTHR24356,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	20983394	20983394	T	C	1	0	0	0	0	1	0	0	0	8552	1638	57	5		5	LATS2	13	20983394	Missense_Mutation	SNP	T	C3L-00144_TP	80688	20983394	93380934	1256	5535											
PARP4	0	.	GRCh38	chr13	24503644	24503644	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtttatgacacttggaaataCctgaggatttaacgaaaagg	15	11	10	5	1	0	2	0	2	0	0	0	5	0	4	1	3	2	1	1	3	6	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.132+1G>T		p.X44_splice	ENST00000381989		138	113	25	129	129	0	strelka-varscan-mutect	PARP4,splice_donor_variant,,ENST00000381989,NM_006437.3;TPTE2P6,intron_variant,,ENST00000445572,;	A	ENST00000381989	Transcript	splice_donor_variant	-/5474	132/5175	44/1724				1		-1	PARP4	HGNC	HGNC:271	protein_coding	YES	CCDS9307.1	ENSP00000371419	Q9UKK3		UPI000013C76E	NM_006437.3				2/33																		HIGH	1	SNV	1			1										PASS		rs1003491928	.												A	5	1	12	24503644	24503644	C	A	1	0	0	0	0	0	0	1	0	11543	521	18	2		2	PARP4	13	24503644	Splice_Site	SNP	C	C3L-00144_TP	3520250	24503644	89860684	1257	5536											
AMER2	0	.	GRCh38	chr13	25169694	25169694	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actctgcggaccagcactttGgaaaccgggatttttgttct	8	13	10	10	2	2	0	0	0	2	0	2	3	2	3	2	3	3	2	2	3	1	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1926C>A	p.=	p.S642S	ENST00000515384	1/1	68	53	15	60	60	0	strelka-varscan-mutect	AMER2,synonymous_variant,p.=,ENST00000357816,NM_199138.2;AMER2,synonymous_variant,p.=,ENST00000515384,NM_152704.3;LINC00463,downstream_gene_variant,,ENST00000413501,;	T	ENST00000515384	Transcript	synonymous_variant	2594/3197	1926/2016	642/671	S	tcC/tcA		1		-1	AMER2	HGNC	HGNC:26360	protein_coding	YES	CCDS53859.1	ENSP00000426528	Q8N7J2		UPI0000231C76	NM_152704.3			1/1		hmmpanther:PTHR22237:SF1,hmmpanther:PTHR22237																	LOW		SNV				1										PASS		.	.												T	2	4	12	25169694	25169694	G	T	1	0	0	0	0	0	0	0	1	668	1335	47	2		2	AMER2	13	25169694	Silent	SNP	G	C3L-00144_TP	666050	25169694	89194634	1258	5537											
CDX2	0	.	GRCh38	chr13	27964996	27964996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacaccactcgatatttGtctttcgtcctggttttcac	6	17	7	11	2	2	0	1	0	1	0	5	1	3	0	2	1	1	2	2	1	2	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.561C>A	p.Asp187Glu	p.D187E	ENST00000381020	2/3	160	145	15	148	148	0	strelka-varscan-mutect	CDX2,missense_variant,p.Asp187Glu,ENST00000381020,NM_001265.4;CDX2,non_coding_transcript_exon_variant,,ENST00000548877,;	T	ENST00000381020	Transcript	missense_variant	2694/4053	561/942	187/313	D/E	gaC/gaA		1		-1	CDX2	HGNC	HGNC:1806	protein_coding	YES	CCDS9328.1	ENSP00000370408	Q99626		UPI000013E4C8	NM_001265.4	tolerated(0.55)		2/3		PROSITE_profiles:PS50071,hmmpanther:PTHR24332,hmmpanther:PTHR24332:SF16,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		rs1397725727	.												T	3	4	12	27964996	27964996	G	T	1	0	0	0	0	1	0	0	0	2889	1368	48	2		2	CDX2	13	27964996	Missense_Mutation	SNP	G	C3L-00144_TP	2795302	27964996	86399332	1259	5538											
PDS5B	0	.	GRCh38	chr13	32694256	32694256	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtggaaatgtcaaaatctGctccgacatcaagtaaagga	16	9	9	7	1	3	0	2	0	1	0	4	3	4	2	1	2	1	2	1	2	6	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1503G>T	p.=	p.L501L	ENST00000315596	14/35	261	196	65	250	249	1	strelka-varscan-mutect	PDS5B,synonymous_variant,p.=,ENST00000315596,NM_015032.3;PDS5B,synonymous_variant,p.=,ENST00000450460,;PDS5B,downstream_gene_variant,,ENST00000498550,;	T	ENST00000315596	Transcript	synonymous_variant	1689/7497	1503/4344	501/1447	L	ctG/ctT		1		1	PDS5B	HGNC	HGNC:20418	protein_coding	YES	CCDS41878.1	ENSP00000313851	Q9NTI5		UPI000006D4A9	NM_015032.3			14/35		hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF1,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	32694256	32694256	G	T	1	0	0	0	0	0	0	0	1	11780	1306	46	2		2	PDS5B	13	32694256	Silent	SNP	G	C3L-00144_TP	4729260	32694256	81670072	1260	5539											
RFC3	0	.	GRCh38	chr13	33821236	33821236	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactttatggtgttggagtGgaaaaattgagaattgaaca	15	12	12	2	0	0	2	0	2	0	1	0	6	0	4	0	3	2	1	0	3	6	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.192G>T	p.=	p.V64V	ENST00000380071	2/9	163	129	34	189	187	2	strelka-varscan-mutect	RFC3,synonymous_variant,p.=,ENST00000380071,NM_002915.3;RFC3,synonymous_variant,p.=,ENST00000434425,NM_181558.2;	T	ENST00000380071	Transcript	synonymous_variant	322/2402	192/1071	64/356	V	gtG/gtT		1		1	RFC3	HGNC	HGNC:9971	protein_coding	YES	CCDS9352.1	ENSP00000369411	P40938	A0A024RDQ8	UPI0000125168	NM_002915.3			2/9		hmmpanther:PTHR11669,hmmpanther:PTHR11669:SF1,Pfam_domain:PF13177,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	33821236	33821236	G	T	1	0	0	0	0	0	0	0	1	13417	1335	47	2		2	RFC3	13	33821236	Silent	SNP	G	C3L-00144_TP	1126980	33821236	80543092	1261	5540											
NBEA	0	.	GRCh38	chr13	35098310	35098310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgcagtgctactctgttgGcattcctggttgaactactt	7	15	9	10	0	1	1	0	1	1	0	2	1	2	1	1	2	5	5	1	2	3	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1585G>T	p.Ala529Ser	p.A529S	ENST00000400445	11/58	104	79	25	103	103	0	strelka-varscan-mutect	NBEA,missense_variant,p.Ala529Ser,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Ala529Ser,ENST00000310336,;NBEA,missense_variant,p.Ala529Ser,ENST00000629018,;NBEA,missense_variant,p.Ala529Ser,ENST00000379939,;	T	ENST00000400445	Transcript	missense_variant	2119/11119	1585/8841	529/2946	A/S	Gca/Tca		1		1	NBEA	HGNC	HGNC:7648	protein_coding	YES	CCDS45026.1	ENSP00000383295	Q8NFP9		UPI00004FF92F	NM_015678.4	tolerated(0.53)		11/58		Pfam_domain:PF15787,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF62,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	35098310	35098310	G	T	1	0	0	0	0	1	0	0	0	10198	1203	42	2		2	NBEA	13	35098310	Missense_Mutation	SNP	G	C3L-00144_TP	1277074	35098310	79266018	1262	5541											
SOHLH2	0	.	GRCh38	chr13	36190008	36190008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttttctcgaactctgaCaacgaagcatttaattcaag	12	15	6	8	2	3	1	1	1	2	0	4	3	3	1	0	0	3	2	0	0	5	6			C3L-00144_TP	C3L-00144_NB	C	C																c.579G>T	p.Leu193Phe	p.L193F	ENST00000379881	6/11	96	85	11	79	78	1	strelka-varscan-mutect	SOHLH2,missense_variant,p.Leu193Phe,ENST00000379881,NM_017826.2;CCDC169-SOHLH2,missense_variant,p.Leu270Phe,ENST00000511166,NM_001198910.1;SOHLH2,missense_variant,p.Leu193Phe,ENST00000317764,NM_001282147.1;	A	ENST00000379881	Transcript	missense_variant	668/2193	579/1278	193/425	L/F	ttG/ttT	COSM4802927	1		-1	SOHLH2	HGNC	HGNC:26026	protein_coding	YES	CCDS9355.1	ENSP00000369210	Q9NX45		UPI000006D052	NM_017826.2	tolerated(0.05)		6/11		hmmpanther:PTHR16223,hmmpanther:PTHR16223:SF16											1						MODERATE		SNV	2		1	1										PASS		.	.												A	3	1	12	36190008	36190008	C	A	1	0	0	0	0	1	0	0	0	15247	477	17	2		2	SOHLH2	13	36190008	Missense_Mutation	SNP	C	C3L-00144_TP	1091698	36190008	78174320	1263	5542											
TRPC4	0	.	GRCh38	chr13	37746091	37746091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtccttagcaaattgtttgCactgccgtgacagctcttca	8	13	9	11	1	2	1	1	1	1	0	3	1	3	1	2	1	4	4	2	1	2	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.743G>T	p.Cys248Phe	p.C248F	ENST00000625583	2/10	347	309	38	347	346	1	strelka-varscan-mutect	TRPC4,missense_variant,p.Cys248Phe,ENST00000379705,NM_016179.2;TRPC4,missense_variant,p.Cys248Phe,ENST00000625583,NM_003306.1;TRPC4,missense_variant,p.Cys248Phe,ENST00000358477,NM_001135955.1;TRPC4,missense_variant,p.Cys248Phe,ENST00000355779,NM_001135957.1;TRPC4,missense_variant,p.Cys248Phe,ENST00000379673,NM_001135956.1;TRPC4,missense_variant,p.Cys248Phe,ENST00000426868,;TRPC4,intron_variant,,ENST00000338947,NM_001135958.1;TRPC4,intron_variant,,ENST00000379679,;TRPC4,missense_variant,p.Cys248Phe,ENST00000488717,;	A	ENST00000625583	Transcript	missense_variant	743/3009	743/2949	248/982	C/F	tGc/tTc		1		-1	TRPC4	HGNC	HGNC:12336	protein_coding	YES	CCDS45037.1	ENSP00000486109	Q9UBN4		UPI000006E5BE	NM_003306.1	deleterious(0)		2/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF25,TIGRFAM_domain:TIGR00870																	MODERATE	1	SNV	1			1										PASS		rs1231465398	.												A	3	1	12	37746091	37746091	C	A	1	0	0	0	0	1	0	0	0	17085	710	25	2		2	TRPC4	13	37746091	Missense_Mutation	SNP	C	C3L-00144_TP	1556083	37746091	76618237	1264	5543											
FREM2	0	.	GRCh38	chr13	38850120	38850120	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaatgatccataggactggGgatgtccagtacagatcttc	12	10	10	9	0	1	2	0	1	1	1	4	4	3	4	2	3	1	1	2	3	3	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.6462G>T	p.=	p.G2154G	ENST00000280481	9/24	253	218	35	239	239	0	strelka-varscan-mutect	FREM2,synonymous_variant,p.=,ENST00000280481,NM_207361.5;FREM2,non_coding_transcript_exon_variant,,ENST00000482551,;	T	ENST00000280481	Transcript	synonymous_variant	6678/16070	6462/9510	2154/3169	G	ggG/ggT		1		1	FREM2	HGNC	HGNC:25396	protein_coding	YES	CCDS31960.1	ENSP00000280481	Q5SZK8		UPI000443805C	NM_207361.5			9/24		hmmpanther:PTHR11878:SF32,hmmpanther:PTHR11878,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072																	LOW	1	SNV	2			1										PASS		rs1306132213	.												T	2	4	12	38850120	38850120	G	T	1	0	0	0	0	0	0	0	1	5912	1219	43	2		2	FREM2	13	38850120	Silent	SNP	G	C3L-00144_TP	1104029	38850120	75514208	1265	5544											
STOML3	0	.	GRCh38	chr13	38976539	38976539	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagccaccgcgtcattcataCctggccccttggctttgtca	6	11	8	16	2	3	0	3	0	0	0	3	0	3	0	5	2	2	1	5	2	1	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.229+1G>A		p.X77_splice	ENST00000379631		204	156	48	172	172	0	strelka-varscan-mutect	STOML3,splice_donor_variant,,ENST00000379631,NM_145286.2;STOML3,splice_donor_variant,,ENST00000423210,NM_001144033.1;	T	ENST00000379631	Transcript	splice_donor_variant	-/2121	229/876	77/291				1		-1	STOML3	HGNC	HGNC:19420	protein_coding	YES	CCDS9367.1	ENSP00000368952	Q8TAV4		UPI000003615B	NM_145286.2				3/6																		HIGH	1	SNV	1			1										PASS		rs1295821118	.												T	5	4	12	38976539	38976539	C	T	1	0	0	0	0	0	0	1	0	15694	521	18	3		3	STOML3	13	38976539	Splice_Site	SNP	C	C3L-00144_TP	126419	38976539	75387789	1266	5545											
ENOX1	0	.	GRCh38	chr13	43356079	43356079	+	Silent	SNP	G	G	C																															cactcatagaagtcatccctGgcctgggcaaagtccacatg																								rs764652666		C3L-00144_TP	C3L-00144_NB	G	G																c.663C>G	p.=	p.A221A	ENST00000261488	8/17	334	285	49	248	248	0	strelka-varscan-mutect	ENOX1,synonymous_variant,p.=,ENST00000261488,NM_001242863.1,NM_017993.3,NM_001127615.1;ENOX1,downstream_gene_variant,,ENST00000482207,;	C	ENST00000261488	Transcript	synonymous_variant	1241/2982	663/1932	221/643	A	gcC/gcG	rs764652666	1		-1	ENOX1	HGNC	HGNC:25474	protein_coding	YES	CCDS9389.1	ENSP00000261488	Q8TC92	A0A024RDT8	UPI0000071D6F	NM_001242863.1,NM_017993.3,NM_001127615.1			8/17		Gene3D:3.30.70.330,PROSITE_profiles:PS50102,hmmpanther:PTHR16001,hmmpanther:PTHR16001:SF6,Superfamily_domains:SSF54928																	LOW	1	SNV	1			1										PASS		rs764652666	.												C	2	2	12	43356079	43356079	G	C	1	0	0	0	0	0	0	0	1	4971	1335	47	4		4	ENOX1	13	43356079	Silent	SNP	G	C3L-00144_TP	4379540	43356079	71008249	1267	5546	125	2									
ENOX1	0	.	GRCh38	chr13	43356080	43356080	+	Missense_Mutation	SNP	G	G	T																															actcatagaagtcatccctgGcctgggcaaagtccacatga																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.662C>A	p.Ala221Asp	p.A221D	ENST00000261488	8/17	325	273	52	248	248	0	strelka-varscan-mutect	ENOX1,missense_variant,p.Ala221Asp,ENST00000261488,NM_001242863.1,NM_017993.3,NM_001127615.1;ENOX1,downstream_gene_variant,,ENST00000482207,;	T	ENST00000261488	Transcript	missense_variant	1240/2982	662/1932	221/643	A/D	gCc/gAc		1		-1	ENOX1	HGNC	HGNC:25474	protein_coding	YES	CCDS9389.1	ENSP00000261488	Q8TC92	A0A024RDT8	UPI0000071D6F	NM_001242863.1,NM_017993.3,NM_001127615.1	deleterious(0)		8/17		Gene3D:3.30.70.330,PROSITE_profiles:PS50102,hmmpanther:PTHR16001,hmmpanther:PTHR16001:SF6,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	43356080	43356080	G	T	1	0	0	0	0	1	0	0	0	4971	1203	42	2		2	ENOX1	13	43356080	Missense_Mutation	SNP	G	C3L-00144_TP	1	43356080	71008248	1268	5547	125	2									
LRRC63	0	.	GRCh38	chr13	46213067	46213067	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcttcttcgaagaccCttacctccaaaattcactaa	12	11	3	15	1	2	1	1	0	1	1	4	2	3	1	4	0	2	1	4	0	5	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.33C>A	p.=	p.P11P	ENST00000595396	1/9	249	198	51	201	200	1	strelka-varscan-mutect	LRRC63,synonymous_variant,p.=,ENST00000595396,;LRRC63,synonymous_variant,p.=,ENST00000446175,NM_001282460.1;LCP1,upstream_gene_variant,,ENST00000398576,;LCP1,upstream_gene_variant,,ENST00000442275,;LRRC63,synonymous_variant,p.=,ENST00000378805,;	A	ENST00000595396	Transcript	synonymous_variant	33/2327	33/1764	11/587	P	ccC/ccA		1		1	LRRC63	HGNC	HGNC:34296	protein_coding	YES	CCDS61325.1	ENSP00000469337		J3KQU2	UPI0002742DC2				1/9		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs987162191	.												A	2	1	12	46213067	46213067	C	A	1	0	0	0	0	0	0	0	1	8913	668	24	2		2	LRRC63	13	46213067	Silent	SNP	C	C3L-00144_TP	2856987	46213067	68151261	1269	5548											
DLEU7	0	.	GRCh38	chr13	50843320	50843320	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatctgggccagggtgcaGggcccgcggtcccgggggaa	5	4	19	13	3	1	0	0	0	1	0	2	1	2	1	4	6	1	1	4	6	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.327C>A	p.=	p.P109P	ENST00000504404	1/2	63	51	12	40	40	0	strelka-varscan-mutect	DLEU7,synonymous_variant,p.=,ENST00000400393,NM_198989.2;DLEU7,synonymous_variant,p.=,ENST00000504404,NM_001306135.1;DLEU7-AS1,intron_variant,,ENST00000413510,;	T	ENST00000504404	Transcript	synonymous_variant	377/1122	327/666	109/221	P	ccC/ccA		1		-1	DLEU7	HGNC	HGNC:17567	protein_coding	YES	CCDS76635.1	ENSP00000427177	Q6UYE1		UPI0000225CA2	NM_001306135.1			1/2		hmmpanther:PTHR36961:SF1,hmmpanther:PTHR36961,Pfam_domain:PF15760																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	50843320	50843320	G	T	1	0	0	0	0	0	0	0	1	4360	987	35	2		2	DLEU7	13	50843320	Silent	SNP	G	C3L-00144_TP	4630253	50843320	63521008	1270	5549											
ATP7B	0	.	GRCh38	chr13	51973949	51973949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtaccagaaacgactgaaGcctcaaatcccatgtcttct	13	9	6	13	2	3	2	1	1	2	1	4	3	4	2	3	0	3	1	3	0	4	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1271C>A	p.Ala424Asp	p.A424D	ENST00000242839	2/21	347	290	57	303	303	0	strelka-varscan-mutect	ATP7B,missense_variant,p.Ala424Asp,ENST00000242839,NM_000053.3;ATP7B,missense_variant,p.Ala424Asp,ENST00000448424,;ATP7B,missense_variant,p.Ala313Asp,ENST00000400366,NM_001243182.1;ATP7B,missense_variant,p.Ala424Asp,ENST00000344297,NM_001005918.2;ATP7B,missense_variant,p.Ala424Asp,ENST00000634844,;ATP7B,missense_variant,p.Ala424Asp,ENST00000418097,;ATP7B,missense_variant,p.Ala424Asp,ENST00000400370,;ATP7B,non_coding_transcript_exon_variant,,ENST00000482841,;ATP7B,non_coding_transcript_exon_variant,,ENST00000483772,;ATP7B,intron_variant,,ENST00000635406,;ATP7B,missense_variant,p.Ala424Asp,ENST00000634308,;ATP7B,upstream_gene_variant,,ENST00000634620,;	T	ENST00000242839	Transcript	missense_variant	1428/6638	1271/4398	424/1465	A/D	gCt/gAt		1		-1	ATP7B	HGNC	HGNC:870	protein_coding	YES	CCDS41892.1	ENSP00000242839	P35670	A0A024RDX3	UPI00001FCE15	NM_000053.3	deleterious(0)		2/21		PROSITE_profiles:PS50846,Gene3D:3.30.70.100,TIGRFAM_domain:TIGR00003,Superfamily_domains:SSF55008																	MODERATE	1	SNV	1			1										PASS		rs1257774863	.												T	3	4	12	51973949	51973949	G	T	1	0	0	0	0	1	0	0	0	1344	971	34	2		2	ATP7B	13	51973949	Missense_Mutation	SNP	G	C3L-00144_TP	1130629	51973949	62390379	1271	5550											
PCDH8	0	.	GRCh38	chr13	52847746	52847746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccaggacgcgcacgctgaGggcagccgtggcggagcgcg	7	3	18	13	7	0	1	0	1	0	0	1	3	1	3	2	4	2	3	2	4	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.691C>A	p.Leu231Ile	p.L231I	ENST00000377942	1/3	39	32	7	48	48	0	strelka-mutect	PCDH8,missense_variant,p.Leu231Ile,ENST00000377942,NM_002590.3;PCDH8,missense_variant,p.Leu231Ile,ENST00000338862,NM_032949.2;PCDH8,upstream_gene_variant,,ENST00000613548,;	T	ENST00000377942	Transcript	missense_variant	895/5088	691/3213	231/1070	L/I	Ctc/Atc		1		-1	PCDH8	HGNC	HGNC:8660	protein_coding	YES	CCDS9438.1	ENSP00000367177	O95206		UPI0000072D47	NM_002590.3	tolerated(0.58)		1/3		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF46,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	52847746	52847746	G	T	1	0	0	0	0	1	0	0	0	11604	1000	35	2		2	PCDH8	13	52847746	Missense_Mutation	SNP	G	C3L-00144_TP	873797	52847746	61516582	1272	5551											
PCDH17	0	.	GRCh38	chr13	57632936	57632936	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcaacgacaacgcgccCtccttctcctcggaccagat	10	7	7	17	4	2	1	1	0	1	1	5	4	3	2	4	1	2	0	4	1	2	1	rs751268818		C3L-00144_TP	C3L-00144_NB	C	C																c.390C>A	p.=	p.P130P	ENST00000377918	1/4	537	487	50	509	506	3	strelka-varscan-mutect	PCDH17,synonymous_variant,p.=,ENST00000377918,NM_001040429.2;PCDH17,upstream_gene_variant,,ENST00000612954,;PCDH17,upstream_gene_variant,,ENST00000615375,;RP11-95F22.1,intron_variant,,ENST00000610846,;PCDH17,synonymous_variant,p.=,ENST00000484979,;	A	ENST00000377918	Transcript	synonymous_variant	1125/8232	390/3480	130/1159	P	ccC/ccA	rs751268818	1		1	PCDH17	HGNC	HGNC:14267	protein_coding	YES	CCDS31986.1	ENSP00000367151	O14917		UPI00001FCE5B	NM_001040429.2			1/4		Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs751268818	.												A	2	1	12	57632936	57632936	C	A	1	0	0	0	0	0	0	0	1	11599	668	24	2		2	PCDH17	13	57632936	Silent	SNP	C	C3L-00144_TP	4785190	57632936	56731392	1273	5552											
PCDH17	0	.	GRCh38	chr13	57633153	57633153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccagaaggctctggacCgcgagcaacagaatcaccat	13	6	9	13	2	3	2	2	0	1	2	4	4	4	3	3	2	2	2	3	2	3	0			C3L-00144_TP	C3L-00144_NB	C	C																c.607C>A	p.Arg203Ser	p.R203S	ENST00000377918	1/4	278	253	25	264	263	1	strelka-varscan-mutect	PCDH17,missense_variant,p.Arg203Ser,ENST00000377918,NM_001040429.2;PCDH17,upstream_gene_variant,,ENST00000612954,;PCDH17,upstream_gene_variant,,ENST00000615375,;RP11-95F22.1,non_coding_transcript_exon_variant,,ENST00000610846,;PCDH17,missense_variant,p.Arg203Ser,ENST00000484979,;	A	ENST00000377918	Transcript	missense_variant	1342/8232	607/3480	203/1159	R/S	Cgc/Agc	COSM4768936	1		1	PCDH17	HGNC	HGNC:14267	protein_coding	YES	CCDS31986.1	ENSP00000367151	O14917		UPI00001FCE5B	NM_001040429.2	deleterious(0)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	57633153	57633153	C	A	1	0	0	0	0	1	0	0	0	11599	652	23	1		1	PCDH17	13	57633153	Missense_Mutation	SNP	C	C3L-00144_TP	217	57633153	56731175	1274	5553											
DACH1	0	.	GRCh38	chr13	71681846	71681846	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggacagaatgcggcaTgatgtgagagttctctgggg	10	8	16	7	1	1	3	0	2	1	2	2	5	1	4	1	4	1	2	1	4	1	1	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.913A>T	p.Met305Leu	p.M305L	ENST00000613252	2/11	207	188	19	180	180	0	strelka-varscan-mutect	DACH1,missense_variant,p.Met305Leu,ENST00000613252,NM_080759.5;DACH1,missense_variant,p.Met305Leu,ENST00000611519,NM_080760.5;DACH1,missense_variant,p.Met305Leu,ENST00000620444,NM_004392.6;DACH1,missense_variant,p.Met305Leu,ENST00000619232,;	A	ENST00000613252	Transcript	missense_variant	1336/5233	913/2121	305/706	M/L	Atg/Ttg		1		-1	DACH1	HGNC	HGNC:2663	protein_coding	YES	CCDS41899.1	ENSP00000482245	Q9UI36		UPI000007308B	NM_080759.5	tolerated_low_confidence(1)		2/11		hmmpanther:PTHR12577:SF14,hmmpanther:PTHR12577																	MODERATE	1	SNV	1			1										PASS		rs888954628	.												A	3	1	12	71681846	71681846	T	A	1	0	0	0	0	1	0	0	0	4021	1464	51	4		4	DACH1	13	71681846	Missense_Mutation	SNP	T	C3L-00144_TP	14048693	71681846	42682482	1275	5554											
DACH1	0	.	GRCh38	chr13	71866239	71866239	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaggggtgttttccactggGgacggggttgagtacacggg	6	10	19	6	2	0	2	0	2	0	0	1	3	1	3	1	7	1	3	1	7	1	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.531C>A	p.=	p.S177S	ENST00000613252	1/11	96	85	11	98	98	0	strelka-varscan-mutect	DACH1,synonymous_variant,p.=,ENST00000613252,NM_080759.5;DACH1,synonymous_variant,p.=,ENST00000611519,NM_080760.5;DACH1,synonymous_variant,p.=,ENST00000620444,NM_004392.6;DACH1,synonymous_variant,p.=,ENST00000619232,;	T	ENST00000613252	Transcript	synonymous_variant	954/5233	531/2121	177/706	S	tcC/tcA		1		-1	DACH1	HGNC	HGNC:2663	protein_coding	YES	CCDS41899.1	ENSP00000482245	Q9UI36		UPI000007308B	NM_080759.5			1/11		hmmpanther:PTHR12577:SF14,hmmpanther:PTHR12577,Pfam_domain:PF02437																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	71866239	71866239	G	T	1	0	0	0	0	0	0	0	1	4021	1219	43	2		2	DACH1	13	71866239	Silent	SNP	G	C3L-00144_TP	184393	71866239	42498089	1276	5555											
TBC1D4	0	.	GRCh38	chr13	75362089	75362089	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgactgggtgcgctcgcGtgtctccgtcgcggctggga	3	9	17	12	7	1	1	0	1	1	0	4	2	1	2	1	3	1	2	1	3	0	0	rs763365007		C3L-00144_TP	C3L-00144_NB	G	G																c.1017C>T	p.=	p.H339H	ENST00000377636	2/21	161	116	45	141	141	0	strelka-varscan-mutect	TBC1D4,synonymous_variant,p.=,ENST00000377636,NM_014832.3;TBC1D4,synonymous_variant,p.=,ENST00000431480,NM_001286658.1;TBC1D4,synonymous_variant,p.=,ENST00000377625,NM_001286659.1;	A	ENST00000377636	Transcript	synonymous_variant	1364/6364	1017/3897	339/1298	H	caC/caT	rs763365007	1		-1	TBC1D4	HGNC	HGNC:19165	protein_coding	YES	CCDS41901.1	ENSP00000366863	O60343		UPI00001AE7B3	NM_014832.3			2/21		SMART_domains:SM00462,Superfamily_domains:SSF50729																	LOW	1	SNV	2			1										PASS		rs763365007	.												A	2	1	12	75362089	75362089	G	A	1	0	0	0	0	0	0	0	1	16027	1136	40	1		1	TBC1D4	13	75362089	Silent	SNP	G	C3L-00144_TP	3495850	75362089	39002239	1277	5556											
UCHL3	0	.	GRCh38	chr13	75569499	75569499	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaccagtgcccatgaaggtCagactgaggtatttcacatt	12	10	10	9	0	2	4	2	2	0	2	2	4	2	4	2	2	1	1	2	2	2	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.466C>T	p.Gln156Ter	p.Q156*	ENST00000377595	6/9	153	145	8	135	135	0	strelka-varscan-mutect	UCHL3,stop_gained,p.Gln120Ter,ENST00000618773,NM_001270952.1;UCHL3,stop_gained,p.Gln156Ter,ENST00000377595,NM_006002.4;UCHL3,stop_gained,p.Gln90Ter,ENST00000419068,;RP11-29G8.3,non_coding_transcript_exon_variant,,ENST00000563635,;UCHL3,non_coding_transcript_exon_variant,,ENST00000606347,;UCHL3,non_coding_transcript_exon_variant,,ENST00000471792,;RP11-29G8.3,non_coding_transcript_exon_variant,,ENST00000570285,;	T	ENST00000377595	Transcript	stop_gained	496/844	466/693	156/230	Q/*	Cag/Tag		1		1	UCHL3	HGNC	HGNC:12515	protein_coding	YES	CCDS9453.1	ENSP00000366819	P15374	A0A140VJZ4	UPI000004D00E	NM_006002.4			6/9		hmmpanther:PTHR10589:SF24,hmmpanther:PTHR10589,Pfam_domain:PF01088,Gene3D:3.40.532.10,Superfamily_domains:SSF54001																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	75569499	75569499	C	T	1	0	0	0	0	0	1	0	0	17445	827	29	3		3	UCHL3	13	75569499	Nonsense_Mutation	SNP	C	C3L-00144_TP	207410	75569499	38794829	1278	5557											
ACOD1	0	.	GRCh38	chr13	76957524	76957524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttccagtttcggagcatGaagcccgtcattcattccag	8	12	8	13	2	2	1	2	1	0	0	5	2	4	2	4	1	2	2	4	1	1	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.985G>A	p.Glu329Lys	p.E329K	ENST00000377462	5/5	371	294	77	297	296	1	strelka-varscan-mutect	ACOD1,missense_variant,p.Glu329Lys,ENST00000377462,NM_001258406.1;ACOD1,missense_variant,p.Glu329Lys,ENST00000449753,;	A	ENST00000377462	Transcript	missense_variant	1047/2165	985/1446	329/481	E/K	Gaa/Aaa		1		1	ACOD1	HGNC	HGNC:33904	protein_coding	YES	CCDS58299.1	ENSP00000366682	A6NK06		UPI000015C60D	NM_001258406.1	deleterious(0)		5/5		hmmpanther:PTHR16943:SF11,hmmpanther:PTHR16943,Gene3D:1szqA02,Pfam_domain:PF03972,Superfamily_domains:0043815																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	76957524	76957524	G	A	1	0	0	0	0	1	0	0	0	189	1291	45	3		3	ACOD1	13	76957524	Missense_Mutation	SNP	G	C3L-00144_TP	1388025	76957524	37406804	1279	5558											
SLITRK1	0	.	GRCh38	chr13	83880158	83880158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtactccacgttcaggtaCtctaggttttgcagccccgc	6	13	9	13	2	2	0	1	0	1	0	3	0	3	0	3	2	4	5	3	2	3	7	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1350G>T	p.Glu450Asp	p.E450D	ENST00000377084	1/1	176	160	16	174	174	0	strelka-mutect	SLITRK1,missense_variant,p.Glu450Asp,ENST00000377084,NM_052910.2,NM_001281503.1;	A	ENST00000377084	Transcript	missense_variant	2236/5189	1350/2091	450/696	E/D	gaG/gaT		1		-1	SLITRK1	HGNC	HGNC:20297	protein_coding	YES	CCDS9464.1	ENSP00000366288	Q96PX8		UPI0000035971	NM_052910.2,NM_001281503.1	deleterious(0)		1/1		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF33,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	12	83880158	83880158	C	A	1	0	0	0	0	1	0	0	0	15033	564	20	2		2	SLITRK1	13	83880158	Missense_Mutation	SNP	C	C3L-00144_TP	6922634	83880158	30484170	1280	5559											
SLITRK6	0	.	GRCh38	chr13	85794980	85794980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatcctcaaggtcaatctggGttagcaaatcaagatcatcc	13	11	7	10	0	5	1	4	0	1	1	7	1	7	1	2	2	1	2	2	2	6	2			C3L-00144_TP	C3L-00144_NB	G	G																c.1529C>T	p.Thr510Ile	p.T510I	ENST00000400286	2/2	230	177	53	221	221	0	strelka-varscan-mutect	SLITRK6,missense_variant,p.Thr510Ile,ENST00000400286,NM_032229.2;	A	ENST00000400286	Transcript	missense_variant	2128/4318	1529/2526	510/841	T/I	aCc/aTc	COSM5282698	1		-1	SLITRK6	HGNC	HGNC:23503	protein_coding	YES	CCDS41903.1	ENSP00000383143	Q9H5Y7		UPI000004C9D6	NM_032229.2	tolerated(0.51)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF5,Gene3D:3.80.10.10,Superfamily_domains:SSF52058											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	85794980	85794980	G	A	1	0	0	0	0	1	0	0	0	15038	1261	44	3		3	SLITRK6	13	85794980	Missense_Mutation	SNP	G	C3L-00144_TP	1914822	85794980	28569348	1281	5560											
DZIP1	0	.	GRCh38	chr13	95641645	95641645	+	Frame_Shift_Del	DEL	C	C	-																															cagcgtcagcacgtccacagCccccgccaccttgtccacgt																								rs781323042		C3L-00144_TP	C3L-00144_NB	C	C																c.247delG	p.Ala83LeufsTer5	p.A83Lfs*5	ENST00000347108	3/21	219	179	40	192	192	0	sindel-varindel-pindel	DZIP1,frameshift_variant,p.Ala83LeufsTer5,ENST00000361396,NM_014934.4;DZIP1,frameshift_variant,p.Ala83LeufsTer5,ENST00000347108,;DZIP1,frameshift_variant,p.Ala83LeufsTer5,ENST00000361156,;DZIP1,frameshift_variant,p.Ala83LeufsTer5,ENST00000376829,NM_198968.3;DZIP1,non_coding_transcript_exon_variant,,ENST00000466027,;DZIP1,frameshift_variant,p.Ala129LeufsTer5,ENST00000466569,;	-	ENST00000347108	Transcript	frameshift_variant	680/7068	247/2604	83/867	A/X	Gct/ct	rs781323042	1		-1	DZIP1	HGNC	HGNC:20908	protein_coding	YES	CCDS9478.1	ENSP00000257312	Q86YF9		UPI000000D9B8				3/21		hmmpanther:PTHR21502,hmmpanther:PTHR21502:SF5,Pfam_domain:PF13815																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	12	95641645	95641645	C	-	1	0	1	0	1	0	0	0	0	4687	739	26	0		0	DZIP1	13	95641645	Frame_Shift_Del	DEL	C	C3L-00144_TP	9846665	95641645	18722683	1282	5561											
DNAJC3	0	.	GRCh38	chr13	95725220	95725220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattactcaaacaaggaaaaCttgatgaagcagaagatgat	19	9	8	5	0	1	5	1	3	0	2	1	6	1	6	0	1	4	1	0	1	8	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.361C>G	p.Leu121Val	p.L121V	ENST00000602402	4/12	127	113	14	139	139	0	strelka-varscan-mutect	DNAJC3,missense_variant,p.Leu121Val,ENST00000602402,NM_006260.4;DNAJC3,missense_variant,p.Leu121Val,ENST00000376795,;	G	ENST00000602402	Transcript	missense_variant	478/5591	361/1515	121/504	L/V	Ctt/Gtt		1		1	DNAJC3	HGNC	HGNC:9439	protein_coding	YES	CCDS9479.1	ENSP00000473631	Q13217	A8KA82	UPI000006F088	NM_006260.4	tolerated(0.07)		4/12		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,Pfam_domain:PF09976,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		rs1226556031	.												G	3	3	12	95725220	95725220	C	G	1	0	0	0	0	1	0	0	0	4460	565	20	4		4	DNAJC3	13	95725220	Missense_Mutation	SNP	C	C3L-00144_TP	83575	95725220	18639108	1283	5562											
ITGBL1	0	.	GRCh38	chr13	101567741	101567741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagtgcaagtgtgaccaggGatggtatggggatgcttgcc	9	9	16	7	0	0	1	0	1	0	0	0	3	0	3	2	4	3	3	2	4	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.359G>T	p.Gly120Val	p.G120V	ENST00000376180	3/11	121	112	9	113	113	0	strelka-mutect	ITGBL1,missense_variant,p.Gly120Val,ENST00000376180,NM_004791.2;ITGBL1,missense_variant,p.Gly27Val,ENST00000622834,;ITGBL1,missense_variant,p.Gly27Val,ENST00000376162,NM_001271756.1;ITGBL1,5_prime_UTR_variant,,ENST00000545560,NM_001271754.1;ITGBL1,intron_variant,,ENST00000618057,NM_001271755.1;	T	ENST00000376180	Transcript	missense_variant	578/2494	359/1485	120/494	G/V	gGa/gTa		1		1	ITGBL1	HGNC	HGNC:6164	protein_coding	YES	CCDS9499.1	ENSP00000365351	O95965	A0A024RDW7	UPI0000073C95	NM_004791.2	deleterious(0)		3/11		hmmpanther:PTHR10082:SF3,hmmpanther:PTHR10082,Gene3D:2.10.25.10,Pfam_domain:PF07974,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	101567741	101567741	G	T	1	0	0	0	0	1	0	0	0	7808	1174	41	2		2	ITGBL1	13	101567741	Missense_Mutation	SNP	G	C3L-00144_TP	5842521	101567741	12796587	1284	5563											
FGF14	0	.	GRCh38	chr13	101916453	101916453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccatgacccccacagacCttggcgccgcaacctgcgct	8	5	9	19	4	0	2	0	1	0	1	0	3	0	2	6	1	2	2	6	1	1	1			C3L-00144_TP	C3L-00144_NB	C	C																c.193G>T	p.Asp65Tyr	p.D65Y	ENST00000376143	1/5	380	340	40	419	418	1	strelka-varscan-mutect	FGF14,missense_variant,p.Asp65Tyr,ENST00000376143,NM_004115.3;FGF14,intron_variant,,ENST00000376131,NM_175929.2;	A	ENST00000376143	Transcript	missense_variant,splice_region_variant	193/744	193/744	65/247	D/Y	Gat/Tat	COSM4841746	1		-1	FGF14	HGNC	HGNC:3671	protein_coding		CCDS9501.1	ENSP00000365313	Q92915		UPI000003C0F2	NM_004115.3	deleterious(0.02)		1/5		hmmpanther:PTHR11486:SF18,hmmpanther:PTHR11486,Gene3D:2.80.10.50											1						MODERATE		SNV	1		1	1										PASS		rs1199591646	.												A	3	1	12	101916453	101916453	C	A	1	0	0	0	0	1	0	0	0	5707	695	24	2		2	FGF14	13	101916453	Missense_Mutation	SNP	C	C3L-00144_TP	348712	101916453	12447875	1285	5564											
TPP2	0	.	GRCh38	chr13	102627068	102627068	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactttccagaagaacctGaacggaatggggtagctcct	12	8	11	10	1	0	3	0	1	0	2	2	5	2	4	3	3	3	2	3	3	5	2			C3L-00144_TP	C3L-00144_NB	G	G																c.841G>T	p.Glu281Ter	p.E281*	ENST00000376065	7/29	76	71	5	53	52	1	strelka-mutect	TPP2,stop_gained,p.Glu281Ter,ENST00000376052,;TPP2,stop_gained,p.Glu281Ter,ENST00000376065,NM_003291.2;TPP2,non_coding_transcript_exon_variant,,ENST00000496126,;TPP2,upstream_gene_variant,,ENST00000493770,;	T	ENST00000376065	Transcript	stop_gained	877/3931	841/3750	281/1249	E/*	Gaa/Taa	COSM696119	1		1	TPP2	HGNC	HGNC:12016	protein_coding	YES	CCDS9502.1	ENSP00000365233	P29144		UPI0000001C91	NM_003291.2			7/29		hmmpanther:PTHR10795,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	12	102627068	102627068	G	T	1	0	0	0	0	0	1	0	0	16893	1291	45	2		2	TPP2	13	102627068	Nonsense_Mutation	SNP	G	C3L-00144_TP	710615	102627068	11737260	1286	5565											
CCDC168	0	.	GRCh38	chr13	102730888	102730888	+	Frame_Shift_Del	DEL	C	C	-																															gatttctcctcagaaagtaaCaaaattctgttttgtcgttt																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.19809delG	p.Leu6603PhefsTer12	p.L6603Ffs*12	ENST00000322527	4/4	129	110	19	152	152	0	sindel-varindel	CCDC168,frameshift_variant,p.Leu6603PhefsTer12,ENST00000322527,NM_001146197.1;	-	ENST00000322527	Transcript	frameshift_variant	19947/21466	19809/21246	6603/7081	L/X	ttG/tt		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1			4/4		hmmpanther:PTHR35542,hmmpanther:PTHR35542:SF1																	HIGH	1	deletion	3			1										PASS		.	.												-	7	5	12	102730888	102730888	C	-	1	0	1	0	1	0	0	0	0	2484	477	17	0		0	CCDC168	13	102730888	Frame_Shift_Del	DEL	C	C3L-00144_TP	103820	102730888	11633440	1287	5566	126	2									
CCDC168	0	.	GRCh38	chr13	102730889	102730889	+	Missense_Mutation	SNP	A	A	G																															atttctcctcagaaagtaacAaaattctgttttgtcgtttt																								novel		C3L-00144_TP	C3L-00144_NB	A	A																c.19808T>C	p.Leu6603Ser	p.L6603S	ENST00000322527	4/4	145	124	21	157	157	0	strelka-mutect	CCDC168,missense_variant,p.Leu6603Ser,ENST00000322527,NM_001146197.1;	G	ENST00000322527	Transcript	missense_variant	19946/21466	19808/21246	6603/7081	L/S	tTg/tCg		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	deleterious(0)		4/4		hmmpanther:PTHR35542,hmmpanther:PTHR35542:SF1																	MODERATE	1	SNV	3			1										PASS		rs1346563121	.												G	3	3	12	102730889	102730889	A	G	1	0	0	0	0	1	0	0	0	2484	131	5	5		5	CCDC168	13	102730889	Missense_Mutation	SNP	A	C3L-00144_TP	1	102730889	11633439	1288	5567	126	2									
CCDC168	0	.	GRCh38	chr13	102742503	102742503	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgttttcaatttgaaGtggatgtatcttagagaaaa	12	18	8	3	0	3	2	1	1	2	1	3	4	3	3	0	1	0	2	0	1	6	7	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.8194C>A	p.Leu2732Ile	p.L2732I	ENST00000322527	4/4	109	95	14	135	134	1	strelka-varscan-mutect	CCDC168,missense_variant,p.Leu2732Ile,ENST00000322527,NM_001146197.1;LINC00283,upstream_gene_variant,,ENST00000430111,;	T	ENST00000322527	Transcript	missense_variant	8332/21466	8194/21246	2732/7081	L/I	Ctt/Att		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	tolerated(0.62)		4/4																			MODERATE	1	SNV	3			1										PASS		.	.												T	3	4	12	102742503	102742503	G	T	1	0	0	0	0	1	0	0	0	2484	1029	36	2		2	CCDC168	13	102742503	Missense_Mutation	SNP	G	C3L-00144_TP	11614	102742503	11621825	1289	5568											
CCDC168	0	.	GRCh38	chr13	102744106	102744106	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctctcctatacttgtgtaCcattgcttccctttcatctt	5	18	4	14	0	3	0	1	0	2	0	5	0	4	0	4	0	3	2	4	0	3	8	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.6591G>C	p.Trp2197Cys	p.W2197C	ENST00000322527	4/4	226	179	47	217	217	0	strelka-varscan-mutect	CCDC168,missense_variant,p.Trp2197Cys,ENST00000322527,NM_001146197.1;LINC00283,non_coding_transcript_exon_variant,,ENST00000430111,;	G	ENST00000322527	Transcript	missense_variant	6729/21466	6591/21246	2197/7081	W/C	tgG/tgC		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	deleterious_low_confidence(0.01)		4/4																			MODERATE	1	SNV	3			1										PASS		.	.												G	3	3	12	102744106	102744106	C	G	1	0	0	0	0	1	0	0	0	2484	508	18	4		4	CCDC168	13	102744106	Missense_Mutation	SNP	C	C3L-00144_TP	1603	102744106	11620222	1290	5569											
KDELC1	0	.	GRCh38	chr13	102789011	102789012	+	Frame_Shift_Ins	INS	-	-	T																															ttcaaggggactaaccttacINSctcttcatcgtgatctttcg																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.1293_1293+1insA	p.Ala432SerfsTer15	p.A432Sfs*15	ENST00000376004		117	102	15	130	130	0	sindel-varindel-pindel	KDELC1,frameshift_variant,p.Ala432SerfsTer15,ENST00000376004,NM_024089.2;KDELC1,splice_region_variant,,ENST00000460338,;KDELC1,intron_variant,,ENST00000484943,;KDELC1,downstream_gene_variant,,ENST00000486540,;	T	ENST00000376004	Transcript	frameshift_variant,splice_region_variant	1630-1631/2060	1293-1294/1509	431-432/502	-/X	-/A		1		-1	KDELC1	HGNC	HGNC:19350	protein_coding	YES	CCDS9504.1	ENSP00000365172	Q6UW63		UPI000004C663	NM_024089.2					hmmpanther:PTHR12203,hmmpanther:PTHR12203:SF21,Pfam_domain:PF05686,SMART_domains:SM00672																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	12	102789011	102789011	-	T	1	0	1	1	0	0	0	0	0	8034	521	18	0		0	KDELC1	13	102789011	Frame_Shift_Ins	INS	-	C3L-00144_TP	44905	102789011	11575317	1291	5570											
TMEM255B	0	.	GRCh38	chr13	113804948	113804948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctctacaaccccgccCagcagatcctggcctacgca	10	5	7	19	2	1	2	0	0	1	2	2	2	2	2	6	1	4	2	6	1	3	2			C3L-00144_TP	C3L-00144_NB	C	C																c.733C>A	p.Gln245Lys	p.Q245K	ENST00000375353	8/9	103	96	7	85	84	1	strelka-mutect	TMEM255B,missense_variant,p.Gln245Lys,ENST00000375353,NM_182614.2;TMEM255B,non_coding_transcript_exon_variant,,ENST00000467169,;TMEM255B,downstream_gene_variant,,ENST00000498692,;	A	ENST00000375353	Transcript	missense_variant	760/6100	733/981	245/326	Q/K	Cag/Aag	COSM3417399	1		1	TMEM255B	HGNC	HGNC:28297	protein_coding	YES	CCDS45071.1	ENSP00000364502	Q8WV15		UPI0000071C2C	NM_182614.2	tolerated(0.11)		8/9		hmmpanther:PTHR33721:SF3,hmmpanther:PTHR33721,Pfam_domain:PF14967											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	113804948	113804948	C	A	1	0	0	0	0	1	0	0	0	16615	595	21	2		2	TMEM255B	13	113804948	Missense_Mutation	SNP	C	C3L-00144_TP	11015937	113804948	559380	1292	5571											
POTEM	0	.	GRCh38	chr14	18967984	18967984	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaaggacactgacatgAacaagaaggacaagcaaaag	19	4	10	8	0	1	3	1	2	0	1	1	5	1	5	0	2	3	2	0	2	7	0	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.499A>T	p.Asn167Tyr	p.N167Y	ENST00000547889	1/11	170	155	15	178	177	1	varscan-mutect	POTEM,missense_variant,p.Asn167Tyr,ENST00000547889,NM_001145442.1;POTEM,missense_variant,p.Asn167Tyr,ENST00000552966,;POTEM,missense_variant,p.Asn167Tyr,ENST00000616847,;	T	ENST00000547889	Transcript	missense_variant	551/1817	499/1527	167/508	N/Y	Aac/Tac		1		1	POTEM	HGNC	HGNC:37096	protein_coding	YES	CCDS73609.1	ENSP00000448062	A6NI47		UPI00006C1407	NM_001145442.1	deleterious(0.01)		1/11		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	18967984	18967984	A	T	1	0	0	0	0	1	0	0	0	12384	246	9	4		4	POTEM	14	18967984	Missense_Mutation	SNP	A	C3L-00144_TP		18967984	88075734	1293	5572											
POTEG	0	.	GRCh38	chr14	19425689	19425689	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttgctcatgtacaccAagtaacagtggtgtgaggcc	9	13	11	8	0	1	1	1	1	0	0	1	1	1	1	2	2	3	4	2	2	3	4	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.834T>A	p.=	p.L278L	ENST00000547848	4/11	119	109	10	142	142	0	varscan-mutect	POTEG,synonymous_variant,p.=,ENST00000547848,NM_001005356.2;RNU6-1268P,upstream_gene_variant,,ENST00000391214,;RP11-244H18.1,downstream_gene_variant,,ENST00000621705,;POTEG,synonymous_variant,p.=,ENST00000622767,;POTEG,3_prime_UTR_variant,,ENST00000547722,;	T	ENST00000547848	Transcript	synonymous_variant	886/2204	834/1527	278/508	L	ctT/ctA		1		-1	POTEG	HGNC	HGNC:33896	protein_coding	YES	CCDS73610.1	ENSP00000450853	Q6S5H5		UPI00004443FE	NM_001005356.2			4/11		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24118:SF43,hmmpanther:PTHR24118,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	19425689	19425689	A	T	1	0	0	0	0	0	0	0	1	12380	117	5	4		4	POTEG	14	19425689	Silent	SNP	A	C3L-00144_TP	457705	19425689	87618029	1294	5573											
OR4N2	0	.	GRCh38	chr14	19828082	19828082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacactcctgtgctttCtggggcttctggcctcctat	4	15	10	12	0	2	2	0	2	2	0	4	2	4	2	3	3	1	2	3	3	1	3			C3L-00144_TP	C3L-00144_NB	C	C																c.634C>A	p.Leu212Met	p.L212M	ENST00000315947	1/1	344	326	18	372	372	0	varscan-mutect	OR4N2,missense_variant,p.Leu212Met,ENST00000315947,NM_001004723.2;OR4N2,downstream_gene_variant,,ENST00000557414,;OR4N2,downstream_gene_variant,,ENST00000557677,;	A	ENST00000315947	Transcript	missense_variant	634/924	634/924	212/307	L/M	Ctg/Atg	COSM954077	1		1	OR4N2	HGNC	HGNC:14742	protein_coding	YES	CCDS32022.1	ENSP00000319601	Q8NGD1	A0A126GVT2	UPI000004A5DF	NM_001004723.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF439,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	12	19828082	19828082	C	A	1	0	0	0	0	1	0	0	0	11153	912	32	2		2	OR4N2	14	19828082	Missense_Mutation	SNP	C	C3L-00144_TP	402393	19828082	87215636	1295	5574											
OR4N2	0	.	GRCh38	chr14	19828321	19828321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcatttatacccttcgcaaCcaggaagtgaaagcttccat	12	11	7	11	1	1	1	1	1	0	0	3	2	2	2	3	1	3	2	3	1	5	5	rs778283039		C3L-00144_TP	C3L-00144_NB	C	C																c.873C>A	p.Asn291Lys	p.N291K	ENST00000315947	1/1	232	213	19	250	250	0	strelka-varscan-mutect	OR4N2,missense_variant,p.Asn291Lys,ENST00000315947,NM_001004723.2;OR4N2,downstream_gene_variant,,ENST00000557414,;OR4N2,downstream_gene_variant,,ENST00000557677,;	A	ENST00000315947	Transcript	missense_variant	873/924	873/924	291/307	N/K	aaC/aaA	rs778283039	1		1	OR4N2	HGNC	HGNC:14742	protein_coding	YES	CCDS32022.1	ENSP00000319601	Q8NGD1	A0A126GVT2	UPI000004A5DF	NM_001004723.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF439,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs778283039	.												A	3	1	12	19828321	19828321	C	A	1	0	0	0	0	1	0	0	0	11153	506	18	2		2	OR4N2	14	19828321	Missense_Mutation	SNP	C	C3L-00144_TP	239	19828321	87215397	1296	5575											
OR4K5	0	.	GRCh38	chr14	19921554	19921554	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaatttctgaaatgtcactAgtagtgagaacttcctttca	13	14	7	7	0	3	3	2	2	1	2	4	4	4	3	1	0	1	1	1	0	5	5	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.948A>G	p.=	p.L316L	ENST00000315915	1/1	113	96	17	113	113	0	strelka-varscan-mutect	OR4K5,synonymous_variant,p.=,ENST00000315915,NM_001005483.1;	G	ENST00000315915	Transcript	synonymous_variant	973/1078	948/972	316/323	L	ctA/ctG		1		1	OR4K5	HGNC	HGNC:14745	protein_coding	YES	CCDS32024.1	ENSP00000319511	Q8NGD3	A0A126GVN5	UPI0000061E9E	NM_001005483.1			1/1		Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												G	2	3	12	19921554	19921554	A	G	1	0	0	0	0	0	0	0	1	11150	407	15	5		5	OR4K5	14	19921554	Silent	SNP	A	C3L-00144_TP	93233	19921554	87122164	1297	5576											
OR4K1	0	.	GRCh38	chr14	19935927	19935927	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttgtagacttttttatTgagcgcaagactatctcctt	9	17	7	8	1	1	3	0	1	1	2	2	3	1	3	1	0	2	3	1	0	4	8	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.261T>A	p.=	p.I87I	ENST00000285600	1/1	412	378	34	390	390	0	strelka-varscan-mutect	OR4K1,synonymous_variant,p.=,ENST00000285600,NM_001004063.2;	A	ENST00000285600	Transcript	synonymous_variant	320/1076	261/936	87/311	I	atT/atA		1		1	OR4K1	HGNC	HGNC:14726	protein_coding	YES	CCDS32025.1	ENSP00000285600	Q8NGD4		UPI0000041B4A	NM_001004063.2			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF182,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs1478663859	.												A	2	1	12	19935927	19935927	T	A	1	0	0	0	0	0	0	0	1	11144	1800	63	4		4	OR4K1	14	19935927	Silent	SNP	T	C3L-00144_TP	14373	19935927	87107791	1298	5577											
OR4K15	0	.	GRCh38	chr14	19976180	19976180	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacacttatgttgtcagctTactaatagttgcagatagtg	12	14	9	6	0	1	2	1	0	0	2	1	2	1	2	0	0	3	4	0	0	5	7	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.662T>A	p.Leu221Ter	p.L221*	ENST00000305051	1/1	298	265	33	233	233	0	strelka-varscan-mutect	OR4K15,stop_gained,p.Leu221Ter,ENST00000305051,NM_001005486.1;	A	ENST00000305051	Transcript	stop_gained	737/1216	662/1047	221/348	L/*	tTa/tAa		1		1	OR4K15	HGNC	HGNC:15353	protein_coding	YES	CCDS32026.1	ENSP00000304077	Q8NH41		UPI000015F249	NM_001005486.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF287,Superfamily_domains:SSF81321																	HIGH	1	SNV				1										PASS		.	.												A	4	1	12	19976180	19976180	T	A	1	0	0	0	0	0	1	0	0	11147	1764	61	4		4	OR4K15	14	19976180	Nonsense_Mutation	SNP	T	C3L-00144_TP	40253	19976180	87067538	1299	5578											
OR4K17	0	.	GRCh38	chr14	20118120	20118120	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaacagtggcataatctcCctgagctgtttcattatttt	9	15	7	10	0	2	1	1	1	1	0	3	1	2	1	2	1	2	3	2	1	3	5			C3L-00144_TP	C3L-00144_NB	C	C																c.714C>A	p.=	p.S238S	ENST00000315543	1/1	233	205	28	209	208	1	strelka-varscan-mutect	OR4K17,synonymous_variant,p.=,ENST00000315543,NM_001004715.1;	A	ENST00000315543	Transcript	synonymous_variant	714/1032	714/1032	238/343	S	tcC/tcA	COSM697646	1		1	OR4K17	HGNC	HGNC:15355	protein_coding	YES	CCDS32030.1	ENSP00000319197	Q8NGC6	A0A126GVZ4	UPI000004B1EA	NM_001004715.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF322,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						LOW	1	SNV			1	1										PASS		rs1229323000	.												A	2	1	12	20118120	20118120	C	A	1	0	0	0	0	0	0	0	1	11148	610	22	2		2	OR4K17	14	20118120	Silent	SNP	C	C3L-00144_TP	141940	20118120	86925598	1300	5579											
NDRG2	0	.	GRCh38	chr14	21018794	21018795	+	Frame_Shift_Ins	INS	-	-	C																															atgaggtgcttggtctcctaINSccaccagcatcacaggacac																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.781dupG	p.Val261GlyfsTer8	p.V261Gfs*8	ENST00000556147	12/16	110	94	16	94	94	0	sindel-varindel-pindel	NDRG2,splice_donor_variant,,ENST00000397847,NM_001282215.1;NDRG2,frameshift_variant,p.Val261GlyfsTer8,ENST00000556147,NM_001320329.1;NDRG2,frameshift_variant,p.Val247GlyfsTer8,ENST00000555158,NM_001282214.1;NDRG2,frameshift_variant,p.Val247GlyfsTer8,ENST00000553503,NM_001282213.1;NDRG2,frameshift_variant,p.Val174GlyfsTer8,ENST00000554104,NM_001282216.1;NDRG2,frameshift_variant,p.Val247GlyfsTer8,ENST00000350792,NM_016250.2;NDRG2,frameshift_variant,p.Val261GlyfsTer8,ENST00000298687,NM_201535.1;NDRG2,frameshift_variant,p.Val247GlyfsTer8,ENST00000397844,NM_001282212.1;NDRG2,frameshift_variant,p.Val261GlyfsTer8,ENST00000397853,NM_201540.1;NDRG2,frameshift_variant,p.Val261GlyfsTer8,ENST00000397858,NM_201537.1;NDRG2,frameshift_variant,p.Val247GlyfsTer8,ENST00000360463,NM_201536.1;NDRG2,frameshift_variant,p.Val261GlyfsTer8,ENST00000397851,NM_201539.1;NDRG2,frameshift_variant,p.Val247GlyfsTer8,ENST00000554143,NM_201541.1,NM_201538.1;NDRG2,frameshift_variant,p.Val218GlyfsTer8,ENST00000298684,;NDRG2,frameshift_variant,p.Val257GlyfsTer8,ENST00000403829,NM_001282211.1;NDRG2,frameshift_variant,p.Val246GlyfsTer8,ENST00000397856,;NDRG2,frameshift_variant,p.Val247GlyfsTer8,ENST00000555026,;NDRG2,frameshift_variant,p.Val247GlyfsTer8,ENST00000556008,;NDRG2,frameshift_variant,p.Val247GlyfsTer8,ENST00000556974,;NDRG2,frameshift_variant,p.Val177GlyfsTer8,ENST00000553593,;NDRG2,frameshift_variant,p.Val174GlyfsTer8,ENST00000556366,;NDRG2,frameshift_variant,p.Val187GlyfsTer8,ENST00000635386,;NDRG2,intron_variant,,ENST00000557633,;NDRG2,downstream_gene_variant,,ENST00000553784,;NDRG2,downstream_gene_variant,,ENST00000555733,;NDRG2,downstream_gene_variant,,ENST00000555869,;NDRG2,downstream_gene_variant,,ENST00000557169,;NDRG2,downstream_gene_variant,,ENST00000553867,;NDRG2,downstream_gene_variant,,ENST00000555384,;NDRG2,downstream_gene_variant,,ENST00000556420,;NDRG2,downstream_gene_variant,,ENST00000554531,;NDRG2,downstream_gene_variant,,ENST00000553442,;NDRG2,downstream_gene_variant,,ENST00000556457,;NDRG2,downstream_gene_variant,,ENST00000557676,;NDRG2,downstream_gene_variant,,ENST00000554561,;NDRG2,downstream_gene_variant,,ENST00000555142,;NDRG2,downstream_gene_variant,,ENST00000556329,;NDRG2,downstream_gene_variant,,ENST00000556924,;NDRG2,downstream_gene_variant,,ENST00000554094,;NDRG2,downstream_gene_variant,,ENST00000557264,;NDRG2,downstream_gene_variant,,ENST00000554472,;NDRG2,downstream_gene_variant,,ENST00000554419,;NDRG2,downstream_gene_variant,,ENST00000556688,;NDRG2,downstream_gene_variant,,ENST00000557149,;NDRG2,downstream_gene_variant,,ENST00000556561,;NDRG2,downstream_gene_variant,,ENST00000554893,;NDRG2,downstream_gene_variant,,ENST00000555657,;NDRG2,downstream_gene_variant,,ENST00000554489,;NDRG2,downstream_gene_variant,,ENST00000554833,;NDRG2,downstream_gene_variant,,ENST00000557274,;NDRG2,downstream_gene_variant,,ENST00000554398,;NDRG2,downstream_gene_variant,,ENST00000554483,;NDRG2,downstream_gene_variant,,ENST00000557182,;NDRG2,downstream_gene_variant,,ENST00000554415,;NDRG2,downstream_gene_variant,,ENST00000449431,;NDRG2,downstream_gene_variant,,ENST00000553563,;NDRG2,downstream_gene_variant,,ENST00000622747,;NDRG2,downstream_gene_variant,,ENST00000554277,;NDRG2,3_prime_UTR_variant,,ENST00000557353,;NDRG2,non_coding_transcript_exon_variant,,ENST00000556716,;NDRG2,non_coding_transcript_exon_variant,,ENST00000555650,;NDRG2,non_coding_transcript_exon_variant,,ENST00000553793,;NDRG2,non_coding_transcript_exon_variant,,ENST00000557416,;NDRG2,downstream_gene_variant,,ENST00000553741,;NDRG2,downstream_gene_variant,,ENST00000555695,;NDRG2,downstream_gene_variant,,ENST00000553862,;NDRG2,downstream_gene_variant,,ENST00000557669,;NDRG2,downstream_gene_variant,,ENST00000557305,;NDRG2,downstream_gene_variant,,ENST00000557728,;NDRG2,downstream_gene_variant,,ENST00000557198,;NDRG2,downstream_gene_variant,,ENST00000557616,;NDRG2,downstream_gene_variant,,ENST00000553900,;NDRG2,downstream_gene_variant,,ENST00000366204,;NDRG2,downstream_gene_variant,,ENST00000555767,;NDRG2,downstream_gene_variant,,ENST00000557113,;NDRG2,downstream_gene_variant,,ENST00000557167,;NDRG2,downstream_gene_variant,,ENST00000553567,;NDRG2,downstream_gene_variant,,ENST00000554379,;NDRG2,downstream_gene_variant,,ENST00000557318,;	C	ENST00000556147	Transcript	frameshift_variant	1722-1723/2880	781-782/1116	261/371	V/GX	gta/gGta		1		-1	NDRG2	HGNC	HGNC:14460	protein_coding	YES	CCDS9565.1	ENSP00000451712	Q9UN36		UPI000012FEDE	NM_001320329.1			12/16		Gene3D:3.40.50.1820,Pfam_domain:PF03096,hmmpanther:PTHR11034,hmmpanther:PTHR11034:SF17,Superfamily_domains:SSF53474																	HIGH	1	insertion	2			1										PASS		.	.												C	7	5	12	21018794	21018794	-	C	1	0	1	1	0	0	0	0	0	10273	405	14	0		0	NDRG2	14	21018794	Frame_Shift_Ins	INS	-	C3L-00144_TP	900674	21018794	86024924	1301	5580											
OR10G3	0	.	GRCh38	chr14	21570596	21570597	+	Frame_Shift_Ins	INS	-	-	A																															atggagccttgggtctgcccINSagacagtgattaaaataagc																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.148dupT	p.Trp50LeufsTer22	p.W50Lfs*22	ENST00000303532	1/1	224	206	18	191	191	0	sindel-varindel-pindel	OR10G3,frameshift_variant,p.Trp50LeufsTer22,ENST00000303532,NM_001005465.1;	A	ENST00000303532	Transcript	frameshift_variant	148-149/942	148-149/942	50/313	W/LX	tgg/tTgg		1		-1	OR10G3	HGNC	HGNC:8171	protein_coding	YES	CCDS32046.1	ENSP00000302437	Q8NGC4	A0A126GWE3	UPI000003CAB2	NM_001005465.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF69,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	HIGH	1	insertion				1										PASS		.	.												A	7	5	12	21570596	21570596	-	A	1	0	1	1	0	0	0	0	0	10976	595	21	0		0	OR10G3	14	21570596	Frame_Shift_Ins	INS	-	C3L-00144_TP	551802	21570596	85473122	1302	5581											
OR6J1	0	.	GRCh38	chr14	22634026	22634026	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atctccagatattctttctgGgagggagtcacatagataaa	13	12	9	7	0	4	2	1	0	3	2	5	4	4	4	1	2	0	0	1	2	4	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.786C>A	p.=	p.S262S	ENST00000540461	1/1	219	179	40	211	211	0	strelka-varscan-mutect	OR6J1,synonymous_variant,p.=,ENST00000540461,;AC243945.1,downstream_gene_variant,,ENST00000623775,;	T	ENST00000540461	Transcript	synonymous_variant	786/1044	786/1044	262/347	S	tcC/tcA		1		-1	OR6J1	HGNC	HGNC:14707	protein_coding	YES		ENSP00000437629	Q8NGC5		UPI000462094B				1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26454:SF53,hmmpanther:PTHR26454,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	12	22634026	22634026	G	T	1	0	0	0	0	0	0	0	1	11270	1219	43	2		2	OR6J1	14	22634026	Silent	SNP	G	C3L-00144_TP	1063430	22634026	84409692	1303	5582											
PCK2	0	.	GRCh38	chr14	24099582	24099582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcatcaccagccctgcaGggaagaagcgctatgtggca	10	6	14	11	1	1	1	1	0	0	1	1	2	1	2	2	3	3	4	2	3	3	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.877G>T	p.Gly293Trp	p.G293W	ENST00000216780	6/10	72	57	15	51	51	0	strelka-varscan-mutect	PCK2,missense_variant,p.Gly159Trp,ENST00000545054,NM_001308054.1;PCK2,missense_variant,p.Gly159Trp,ENST00000558096,;PCK2,missense_variant,p.Gly293Trp,ENST00000216780,NM_004563.3;PCK2,missense_variant,p.Gly159Trp,ENST00000561286,NM_001291556.1;PCK2,missense_variant,p.Gly293Trp,ENST00000396973,NM_001018073.2;PCK2,missense_variant,p.Gly305Trp,ENST00000559250,;NRL,intron_variant,,ENST00000561028,;NRL,intron_variant,,ENST00000558280,;NRL,upstream_gene_variant,,ENST00000396997,;PCK2,downstream_gene_variant,,ENST00000560736,;PCK2,downstream_gene_variant,,ENST00000559837,;PCK2,upstream_gene_variant,,ENST00000559171,;PCK2,downstream_gene_variant,,ENST00000560657,;PCK2,3_prime_UTR_variant,,ENST00000559503,;PCK2,non_coding_transcript_exon_variant,,ENST00000558674,;PCK2,non_coding_transcript_exon_variant,,ENST00000561050,;PCK2,downstream_gene_variant,,ENST00000560106,;PCK2,downstream_gene_variant,,ENST00000559584,;PCK2,upstream_gene_variant,,ENST00000557969,;	T	ENST00000216780	Transcript	missense_variant	1145/2357	877/1923	293/640	G/W	Ggg/Tgg		1		1	PCK2	HGNC	HGNC:8725	protein_coding	YES	CCDS9609.1	ENSP00000216780	Q16822		UPI0000169DF3	NM_004563.3	deleterious(0)		6/10		HAMAP:MF_00452,hmmpanther:PTHR11561,hmmpanther:PTHR11561:SF5,Gene3D:3.90.228.20,PIRSF_domain:PIRSF001348,Pfam_domain:PF00821,Superfamily_domains:SSF53795																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	24099582	24099582	G	T	1	0	0	0	0	1	0	0	0	11670	1000	35	2		2	PCK2	14	24099582	Missense_Mutation	SNP	G	C3L-00144_TP	1465556	24099582	82944136	1304	5583											
ADCY4	0	.	GRCh38	chr14	24330199	24330199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacatgtccaggcccatgcGcacgcagttgatggcatggt	8	8	13	12	2	0	1	0	1	0	0	1	1	1	1	2	3	1	5	2	3	0	1	rs140776899		C3L-00144_TP	C3L-00144_NB	G	G																c.1027C>T	p.Arg343Cys	p.R343C	ENST00000310677	8/26	157	112	45	131	131	0	strelka-mutect	ADCY4,missense_variant,p.Arg343Cys,ENST00000310677,NM_139247.3,NM_001198568.1,NM_001198592.1;ADCY4,missense_variant,p.Arg343Cys,ENST00000554068,;ADCY4,missense_variant,p.Arg343Cys,ENST00000418030,;RP11-934B9.3,downstream_gene_variant,,ENST00000555591,;ADCY4,downstream_gene_variant,,ENST00000559167,;ADCY4,downstream_gene_variant,,ENST00000561138,;ADCY4,upstream_gene_variant,,ENST00000556932,;ADCY4,downstream_gene_variant,,ENST00000558563,;ADCY4,downstream_gene_variant,,ENST00000558125,;ADCY4,synonymous_variant,p.=,ENST00000554781,;ADCY4,non_coding_transcript_exon_variant,,ENST00000554577,;ADCY4,non_coding_transcript_exon_variant,,ENST00000545213,;ADCY4,intron_variant,,ENST00000557056,;ADCY4,downstream_gene_variant,,ENST00000557099,;ADCY4,downstream_gene_variant,,ENST00000554674,;ADCY4,upstream_gene_variant,,ENST00000554959,;	A	ENST00000310677	Transcript	missense_variant	1141/3415	1027/3234	343/1077	R/C	Cgc/Tgc	rs140776899	1		-1	ADCY4	HGNC	HGNC:235	protein_coding	YES	CCDS9627.1	ENSP00000312126	Q8NFM4		UPI00000398CC	NM_139247.3,NM_001198568.1,NM_001198592.1	deleterious(0)		8/26		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF286,SMART_domains:SM00044,Superfamily_domains:SSF55073																	MODERATE	1	SNV	2			1										PASS		rs140776899	.												A	3	1	12	24330199	24330199	G	A	1	0	0	0	0	1	0	0	0	340	1087	38	1		1	ADCY4	14	24330199	Missense_Mutation	SNP	G	C3L-00144_TP	230617	24330199	82713519	1305	5584											
KHNYN	0	.	GRCh38	chr14	24431515	24431515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatgaaatccactaccCgcccaaactgcactgcatct	12	7	7	15	1	1	1	0	1	1	0	2	2	2	2	3	1	4	3	3	1	3	1			C3L-00144_TP	C3L-00144_NB	C	C																c.254C>T	p.Pro85Leu	p.P85L	ENST00000251343	3/8	56	52	4	68	68	0	strelka-varscan-mutect	KHNYN,missense_variant,p.Pro85Leu,ENST00000251343,NM_001290256.1;KHNYN,missense_variant,p.Pro85Leu,ENST00000553935,NM_015299.2;KHNYN,missense_variant,p.Pro85Leu,ENST00000556842,NM_001290257.1;KHNYN,missense_variant,p.Pro85Leu,ENST00000556510,;CBLN3,upstream_gene_variant,,ENST00000267406,NM_001039771.2;KHNYN,upstream_gene_variant,,ENST00000554268,;CBLN3,upstream_gene_variant,,ENST00000555436,;KHNYN,upstream_gene_variant,,ENST00000556255,;	T	ENST00000251343	Transcript	missense_variant	393/6725	254/2037	85/678	P/L	cCg/cTg	COSM4695105	1		1	KHNYN	HGNC	HGNC:20166	protein_coding	YES	CCDS32058.1	ENSP00000251343	O15037		UPI000000CC1F	NM_001290256.1	deleterious(0)		3/8		hmmpanther:PTHR12876:SF28,hmmpanther:PTHR12876,Superfamily_domains:SSF54791											1						MODERATE	1	SNV	1		1	1										PASS		rs1264990848	.												T	3	4	12	24431515	24431515	C	T	1	0	0	0	0	1	0	0	0	8071	652	23	1		1	KHNYN	14	24431515	Missense_Mutation	SNP	C	C3L-00144_TP	101316	24431515	82612203	1306	5585											
FOXG1	0	.	GRCh38	chr14	28768585	28768585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagcacgtccatgagcGccagggccgcgtcctcctcc	7	5	12	17	4	0	2	0	1	0	1	4	2	4	2	6	1	3	2	6	1	0	0			C3L-00144_TP	C3L-00144_NB	G	G																c.1306G>C	p.Ala436Pro	p.A436P	ENST00000313071	1/1	404	321	83	351	351	0	strelka-varscan-mutect	FOXG1,missense_variant,p.Ala436Pro,ENST00000313071,NM_005249.4;LINC01551,upstream_gene_variant,,ENST00000399387,;LINC01551,upstream_gene_variant,,ENST00000552957,;LINC01551,upstream_gene_variant,,ENST00000548213,;FOXG1-AS1,upstream_gene_variant,,ENST00000551395,;FOXG1-AS1,upstream_gene_variant,,ENST00000546560,;FOXG1-AS1,upstream_gene_variant,,ENST00000549487,;FOXG1,downstream_gene_variant,,ENST00000637817,;FOXG1,downstream_gene_variant,,ENST00000636893,;FOXG1,downstream_gene_variant,,ENST00000636353,;FOXG1,downstream_gene_variant,,ENST00000637220,;FOXG1,downstream_gene_variant,,ENST00000636346,;FOXG1,downstream_gene_variant,,ENST00000636604,;FOXG1,downstream_gene_variant,,ENST00000637351,;	C	ENST00000313071	Transcript	missense_variant	3198/4890	1306/1470	436/489	A/P	Gcc/Ccc	COSM1207418	1		1	FOXG1	HGNC	HGNC:3811	protein_coding	YES	CCDS9636.1	ENSP00000339004	P55316		UPI00001AE46C	NM_005249.4	tolerated_low_confidence(0.18)		1/1		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF165,Low_complexity_(Seg):seg											1						MODERATE		SNV			1	1										PASS		rs1301757713	.												C	3	2	12	28768585	28768585	G	C	1	0	0	0	0	1	0	0	0	5869	1087	38	4		4	FOXG1	14	28768585	Missense_Mutation	SNP	G	C3L-00144_TP	4337070	28768585	78275133	1307	5586											
GPR33	0	.	GRCh38	chr14	31483027	31483027	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactcaaacagagcaagaatGgacttcttgaagaccttttt	14	11	8	8	0	2	4	1	1	1	3	2	6	2	5	1	1	2	1	1	1	4	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.939C>A	p.=	p.S313S	ENST00000399285	2/2	55	48	7	57	57	0	strelka-varscan-mutect	GPR33,synonymous_variant,p.=,ENST00000399285,NM_001197184.2;	T	ENST00000399285	Transcript	synonymous_variant	994/1057	939/1002	313/333	S	tcC/tcA		1		-1	GPR33	HGNC	HGNC:4489	protein_coding	YES	CCDS73628.1	ENSP00000421557	Q49SQ1		UPI0000585CCE	NM_001197184.2			2/2		hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF5,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00526																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	31483027	31483027	G	T	1	0	0	0	0	0	0	0	1	6573	1335	47	2		2	GPR33	14	31483027	Silent	SNP	G	C3L-00144_TP	2714442	31483027	75560691	1308	5587											
NPAS3	0	.	GRCh38	chr14	33215228	33215228	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagatgctgctcgctccCgccggggaaaagaaaacttt	10	7	11	13	4	0	2	0	0	0	2	2	4	1	3	3	2	3	3	3	2	4	1			C3L-00144_TP	C3L-00144_NB	C	C																c.187C>A	p.Arg63Ser	p.R63S	ENST00000356141	3/12	168	117	51	121	119	2	strelka-varscan-mutect	NPAS3,missense_variant,p.Arg33Ser,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Arg33Ser,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Arg70Ser,ENST00000551492,;NPAS3,missense_variant,p.Arg63Ser,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Arg33Ser,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Arg40Ser,ENST00000551634,;NPAS3,5_prime_UTR_variant,,ENST00000547068,;NPAS3,5_prime_UTR_variant,,ENST00000551008,;NPAS3,upstream_gene_variant,,ENST00000546849,;NPAS3,non_coding_transcript_exon_variant,,ENST00000549770,;	A	ENST00000356141	Transcript	missense_variant	187/2802	187/2802	63/933	R/S	Cgc/Agc	COSM5298451,COSM5298452,COSM5298453,COSM5298454	1		1	NPAS3	HGNC	HGNC:19311	protein_coding	YES	CCDS53891.1	ENSP00000348460	Q8IXF0	X5D2Q4	UPI00000743C2	NM_001164749.1	deleterious(0)		3/12		PROSITE_profiles:PS50888,hmmpanther:PTHR23043:SF30,hmmpanther:PTHR23043,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												A	3	1	12	33215228	33215228	C	A	1	0	0	0	0	1	0	0	0	10612	652	23	1		1	NPAS3	14	33215228	Missense_Mutation	SNP	C	C3L-00144_TP	1732201	33215228	73828490	1309	5588											
NPAS3	0	.	GRCh38	chr14	33778493	33778493	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattatatggatctgaccccTgtagatatcgtagggaagag	12	11	12	6	1	1	3	0	1	1	2	2	6	1	5	2	2	0	2	2	2	6	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1074T>A	p.=	p.P358P	ENST00000356141	9/12	245	188	57	209	209	0	strelka-varscan-mutect	NPAS3,synonymous_variant,p.=,ENST00000346562,NM_022123.2;NPAS3,synonymous_variant,p.=,ENST00000548645,NM_001165893.1;NPAS3,synonymous_variant,p.=,ENST00000551492,;NPAS3,synonymous_variant,p.=,ENST00000356141,NM_001164749.1;NPAS3,synonymous_variant,p.=,ENST00000357798,NM_173159.2;NPAS3,synonymous_variant,p.=,ENST00000551634,;NPAS3,synonymous_variant,p.=,ENST00000552874,;	A	ENST00000356141	Transcript	synonymous_variant	1074/2802	1074/2802	358/933	P	ccT/ccA		1		1	NPAS3	HGNC	HGNC:19311	protein_coding	YES	CCDS53891.1	ENSP00000348460	Q8IXF0	X5D2Q4	UPI00000743C2	NM_001164749.1			9/12		PROSITE_profiles:PS50112,hmmpanther:PTHR23043:SF30,hmmpanther:PTHR23043,Pfam_domain:PF08447,Gene3D:3.30.450.20,SMART_domains:SM00091,Superfamily_domains:SSF55785																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	33778493	33778493	T	A	1	0	0	0	0	0	0	0	1	10612	1567	55	4		4	NPAS3	14	33778493	Silent	SNP	T	C3L-00144_TP	563265	33778493	73265225	1310	5589											
NPAS3	0	.	GRCh38	chr14	33800275	33800275	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggagatctcagaacccatCaatttcgacaatgacagcag	15	7	8	11	2	2	3	2	1	1	2	4	5	2	3	1	1	2	1	1	1	3	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1968C>A	p.=	p.I656I	ENST00000356141	12/12	280	205	75	254	254	0	strelka-varscan-mutect	NPAS3,synonymous_variant,p.=,ENST00000346562,NM_022123.2;NPAS3,synonymous_variant,p.=,ENST00000548645,NM_001165893.1;NPAS3,synonymous_variant,p.=,ENST00000551492,;NPAS3,synonymous_variant,p.=,ENST00000356141,NM_001164749.1;NPAS3,synonymous_variant,p.=,ENST00000357798,NM_173159.2;NPAS3,synonymous_variant,p.=,ENST00000551634,;	A	ENST00000356141	Transcript	synonymous_variant	1968/2802	1968/2802	656/933	I	atC/atA		1		1	NPAS3	HGNC	HGNC:19311	protein_coding	YES	CCDS53891.1	ENSP00000348460	Q8IXF0	X5D2Q4	UPI00000743C2	NM_001164749.1			12/12		hmmpanther:PTHR23043:SF30,hmmpanther:PTHR23043																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	33800275	33800275	C	A	1	0	0	0	0	0	0	0	1	10612	816	29	2		2	NPAS3	14	33800275	Silent	SNP	C	C3L-00144_TP	21782	33800275	73243443	1311	5590											
BAZ1A	0	.	GRCh38	chr14	34826031	34826031	+	Frame_Shift_Del	DEL	C	C	-																															acccattttgaaaagaacagCtttgtgtttctgaatcatca																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.518delG	p.Ser173ThrfsTer52	p.S173Tfs*52	ENST00000360310	4/27	141	126	15	151	151	0	sindel-varindel-pindel	BAZ1A,frameshift_variant,p.Ser173ThrfsTer52,ENST00000360310,NM_013448.2;BAZ1A,frameshift_variant,p.Ser173ThrfsTer52,ENST00000358716,NM_182648.1;BAZ1A,frameshift_variant,p.Ser173ThrfsTer52,ENST00000382422,;BAZ1A,downstream_gene_variant,,ENST00000553853,;BAZ1A,frameshift_variant,p.Ser64ThrfsTer11,ENST00000553573,;	-	ENST00000360310	Transcript	frameshift_variant	1086/6010	518/4671	173/1556	S/X	aGc/ac		1		-1	BAZ1A	HGNC	HGNC:960	protein_coding	YES	CCDS9651.1	ENSP00000353458	Q9NRL2		UPI00001584D3	NM_013448.2			4/27		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF173																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	12	34826031	34826031	C	-	1	0	1	0	1	0	0	0	0	1474	797	28	0		0	BAZ1A	14	34826031	Frame_Shift_Del	DEL	C	C3L-00144_TP	1025756	34826031	72217687	1312	5591											
MIA2	0	.	GRCh38	chr14	39247892	39247892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaacagaagatcaaataGacaagaaaccagtctcagaa	22	5	7	7	0	2	6	2	0	1	6	3	6	2	6	1	0	2	0	1	0	8	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1318G>T	p.Asp440Tyr	p.D440Y	ENST00000553728	4/28	127	92	35	122	121	1	strelka-varscan-mutect	RP11-407N17.3,missense_variant,p.Asp440Tyr,ENST00000553728,;MIA2,missense_variant,p.Asp440Tyr,ENST00000280082,NM_054024.3;MIA2,non_coding_transcript_exon_variant,,ENST00000556784,;	T	ENST00000553728	Transcript	missense_variant	1531/4392	1318/4020	440/1339	D/Y	Gac/Tac		1		1	RP11-407N17.3	Clone_based_vega_gene		protein_coding	YES		ENSP00000452252		G3V599	UPI00021CF1EF		tolerated(0.58)		4/28		Low_complexity_(Seg):seg,hmmpanther:PTHR23158:SF38,hmmpanther:PTHR23158																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	12	39247892	39247892	G	T	1	0	0	0	0	1	0	0	0	9521	942	33	2		2	MIA2	14	39247892	Missense_Mutation	SNP	G	C3L-00144_TP	4421861	39247892	67795826	1313	5592											
FANCM	0	.	GRCh38	chr14	45170589	45170589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attattttttcaacttatagGaatgaggcaaagtagcctaa	15	14	7	5	0	1	1	1	1	0	0	1	2	1	2	1	2	2	2	1	2	8	8	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2003G>T	p.Gly668Val	p.G668V	ENST00000267430	12/23	144	131	13	168	168	0	strelka-varscan-mutect	FANCM,missense_variant,p.Gly668Val,ENST00000267430,NM_020937.2;FANCM,missense_variant,p.Gly642Val,ENST00000542564,NM_001308133.1;FANCM,missense_variant,p.Gly184Val,ENST00000556250,;FANCM,downstream_gene_variant,,ENST00000556036,NM_001308134.1;	T	ENST00000267430	Transcript	missense_variant,splice_region_variant	2088/7111	2003/6147	668/2048	G/V	gGa/gTa		1		1	FANCM	HGNC	HGNC:23168	protein_coding	YES	CCDS32070.1	ENSP00000267430	Q8IYD8		UPI000059F032	NM_020937.2	deleterious(0)		12/23		hmmpanther:PTHR14025:SF20,hmmpanther:PTHR14025																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	45170589	45170589	G	T	1	0	0	0	0	1	0	0	0	5531	1188	41	2		2	FANCM	14	45170589	Missense_Mutation	SNP	G	C3L-00144_TP	5922697	45170589	61873129	1314	5593											
MAP4K5	0	.	GRCh38	chr14	50485639	50485639	+	Silent	SNP	C	C	A																															atacaaatccatagtttttcCcgactaatacaaaaaaaaaa																								rs182690959		C3L-00144_TP	C3L-00144_NB	C	C																c.261G>T	p.=	p.R87R	ENST00000013125	5/32	158	132	26	147	147	0	strelka-varscan-mutect	MAP4K5,synonymous_variant,p.=,ENST00000013125,NM_198794.2,NM_006575.4;MAP4K5,synonymous_variant,p.=,ENST00000555216,;MAP4K5,synonymous_variant,p.=,ENST00000557390,;MAP4K5,non_coding_transcript_exon_variant,,ENST00000557578,;MAP4K5,intron_variant,,ENST00000554091,;MAP4K5,upstream_gene_variant,,ENST00000557210,;MAP4K5,downstream_gene_variant,,ENST00000554066,;	A	ENST00000013125	Transcript	synonymous_variant	580/4354	261/2541	87/846	R	cgG/cgT	rs182690959	1		-1	MAP4K5	HGNC	HGNC:6867	protein_coding	YES		ENSP00000013125		A0A0A0MQR1	UPI00015DFDAA	NM_198794.2,NM_006575.4			5/32		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF038172,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF324,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		rs182690959	.												A	2	1	12	50485639	50485639	C	A	1	0	0	0	0	0	0	0	1	9187	637	22	2		2	MAP4K5	14	50485639	Silent	SNP	C	C3L-00144_TP	5315050	50485639	56558079	1315	5594	127	2									
MAP4K5	0	.	GRCh38	chr14	50485640	50485640	+	Missense_Mutation	SNP	C	C	A																															tacaaatccatagtttttccCgactaatacaaaaaaaaaag																								rs752320367		C3L-00144_TP	C3L-00144_NB	C	C																c.260G>T	p.Arg87Leu	p.R87L	ENST00000013125	5/32	156	131	25	144	144	0	strelka-varscan-mutect	MAP4K5,missense_variant,p.Arg87Leu,ENST00000013125,NM_198794.2,NM_006575.4;MAP4K5,missense_variant,p.Arg20Leu,ENST00000555216,;MAP4K5,missense_variant,p.Arg87Leu,ENST00000557390,;MAP4K5,splice_region_variant,,ENST00000557578,;MAP4K5,intron_variant,,ENST00000554091,;MAP4K5,upstream_gene_variant,,ENST00000557210,;MAP4K5,downstream_gene_variant,,ENST00000554066,;	A	ENST00000013125	Transcript	missense_variant,splice_region_variant	579/4354	260/2541	87/846	R/L	cGg/cTg	rs752320367	1		-1	MAP4K5	HGNC	HGNC:6867	protein_coding	YES		ENSP00000013125		A0A0A0MQR1	UPI00015DFDAA	NM_198794.2,NM_006575.4	tolerated(0.13)		5/32		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF038172,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF324,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs752320367	.												A	3	1	12	50485640	50485640	C	A	1	0	0	0	0	1	0	0	0	9187	666	23	1		1	MAP4K5	14	50485640	Missense_Mutation	SNP	C	C3L-00144_TP	1	50485640	56558078	1316	5595	127	2									
PYGL	0	.	GRCh38	chr14	50909935	50909935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcatctatcctcatgcCaaagatgaacaggttctctt	12	12	5	12	0	4	2	2	1	2	1	6	2	5	2	2	1	2	1	2	1	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2137G>T	p.Gly713Cys	p.G713C	ENST00000216392	17/20	449	326	123	405	404	1	strelka-varscan-mutect	PYGL,missense_variant,p.Gly713Cys,ENST00000216392,NM_002863.4;PYGL,missense_variant,p.Gly713Cys,ENST00000532462,;PYGL,missense_variant,p.Gly679Cys,ENST00000544180,NM_001163940.1;ABHD12B,downstream_gene_variant,,ENST00000337334,NM_001206673.1;ABHD12B,downstream_gene_variant,,ENST00000353130,NM_181814.1;RP11-218E20.5,upstream_gene_variant,,ENST00000557343,;PYGL,non_coding_transcript_exon_variant,,ENST00000532107,;ABHD12B,downstream_gene_variant,,ENST00000382029,NM_181533.3;ABHD12B,downstream_gene_variant,,ENST00000557345,;	A	ENST00000216392	Transcript	missense_variant	2470/3048	2137/2544	713/847	G/C	Ggc/Tgc		1		-1	PYGL	HGNC	HGNC:9725	protein_coding	YES	CCDS32080.1	ENSP00000216392	P06737		UPI000011136E	NM_002863.4	deleterious(0)		17/20		hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF12,TIGRFAM_domain:TIGR02093,Gene3D:3.40.50.2000,Pfam_domain:PF00343,PIRSF_domain:PIRSF000460,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	50909935	50909935	C	A	1	0	0	0	0	1	0	0	0	13015	594	21	2		2	PYGL	14	50909935	Missense_Mutation	SNP	C	C3L-00144_TP	424295	50909935	56133783	1317	5596											
PYGL	0	.	GRCh38	chr14	50944239	50944239	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgcaccgtgtgcgccagCgcgaagtagtagtcgcgggt	6	7	16	12	8	0	0	0	0	0	0	2	1	0	0	2	1	2	3	2	1	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.165G>T	p.=	p.A55A	ENST00000216392	1/20	260	207	53	225	225	0	strelka-varscan-mutect	PYGL,synonymous_variant,p.=,ENST00000216392,NM_002863.4;PYGL,synonymous_variant,p.=,ENST00000532462,;PYGL,synonymous_variant,p.=,ENST00000544180,NM_001163940.1;PYGL,non_coding_transcript_exon_variant,,ENST00000530336,;	A	ENST00000216392	Transcript	synonymous_variant	498/3048	165/2544	55/847	A	gcG/gcT		1		-1	PYGL	HGNC	HGNC:9725	protein_coding	YES	CCDS32080.1	ENSP00000216392	P06737		UPI000011136E	NM_002863.4			1/20		hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF12,TIGRFAM_domain:TIGR02093,Gene3D:3.40.50.2000,PIRSF_domain:PIRSF000460,Superfamily_domains:SSF53756																	LOW	1	SNV	1			1										PASS		rs1462467753	.												A	2	1	12	50944239	50944239	C	A	1	0	0	0	0	0	0	0	1	13015	755	27	1		1	PYGL	14	50944239	Silent	SNP	C	C3L-00144_TP	34304	50944239	56099479	1318	5597											
NID2	0	.	GRCh38	chr14	52060164	52060164	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcagtgctagtcaagcTgaaatatggtccttctgact	9	14	9	9	0	3	2	2	2	1	0	4	2	4	2	1	1	2	3	1	1	4	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.727A>C	p.Ser243Arg	p.S243R	ENST00000216286	3/22	139	109	30	114	114	0	strelka-varscan-mutect	NID2,missense_variant,p.Ser243Arg,ENST00000216286,NM_007361.3;NID2,intron_variant,,ENST00000617139,;	G	ENST00000216286	Transcript	missense_variant	727/4811	727/4128	243/1375	S/R	Agc/Cgc		1		-1	NID2	HGNC	HGNC:13389	protein_coding	YES	CCDS9706.1	ENSP00000216286	Q14112		UPI000013C6E1	NM_007361.3	tolerated(0.05)		3/22		Pfam_domain:PF06119,PROSITE_profiles:PS51220,SMART_domains:SM00539																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	52060164	52060164	T	G	1	0	0	0	0	1	0	0	0	10448	1580	55	5		5	NID2	14	52060164	Missense_Mutation	SNP	T	C3L-00144_TP	1115925	52060164	54983554	1319	5598											
GPR137C	0	.	GRCh38	chr14	52600112	52600112	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatactttttttctttcaGaattctactgcatttgggct	9	20	5	7	0	3	1	1	0	2	1	3	1	3	1	0	1	3	2	0	1	5	9	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.489-1G>T		p.X163_splice	ENST00000321662		141	133	8	124	123	1	varscan-mutect	GPR137C,splice_acceptor_variant,,ENST00000321662,NM_001099652.1;GPR137C,splice_acceptor_variant,,ENST00000542169,;GPR137C,splice_acceptor_variant,,ENST00000555622,;	T	ENST00000321662	Transcript	splice_acceptor_variant	-/3888	489/1290	163/429				1		1	GPR137C	HGNC	HGNC:25445	protein_coding	YES	CCDS45106.1	ENSP00000315106	Q8N3F9		UPI0000043F5A	NM_001099652.1				2/6																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	12	52600112	52600112	G	T	1	0	0	0	0	0	0	1	0	6533	956	33	2		2	GPR137C	14	52600112	Splice_Site	SNP	G	C3L-00144_TP	539948	52600112	54443606	1320	5599											
SYT16	0	.	GRCh38	chr14	62075173	62075173	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacggcgttattctgagaatCtctcctacggtgaagatgac	11	11	10	9	3	2	4	0	3	2	2	4	5	3	4	1	2	2	1	1	2	5	3	rs773110798		C3L-00144_TP	C3L-00144_NB	C	C																c.775C>A	p.Leu259Ile	p.L259I	ENST00000568344	3/6	185	138	47	190	189	1	strelka-varscan-mutect	SYT16,missense_variant,p.Leu259Ile,ENST00000568344,NM_031914.2;SYT16,missense_variant,p.Leu149Ile,ENST00000636133,;SYT16,upstream_gene_variant,,ENST00000430451,;RP11-355I22.5,intron_variant,,ENST00000553990,;SYT16,missense_variant,p.Leu259Ile,ENST00000555409,;	A	ENST00000568344	Transcript	missense_variant	972/13978	775/1938	259/645	L/I	Ctc/Atc	rs773110798	1		1	SYT16	HGNC	HGNC:23142	protein_coding	YES	CCDS45121.1	ENSP00000478637	Q17RD7		UPI0000EE1AC0	NM_031914.2	tolerated(0.06)		3/6		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF113																	MODERATE	1	SNV	1			1										PASS		rs773110798	.												A	3	1	12	62075173	62075173	C	A	1	0	0	0	0	1	0	0	0	15866	913	32	2		2	SYT16	14	62075173	Missense_Mutation	SNP	C	C3L-00144_TP	9475061	62075173	44968545	1321	5600											
PPP1R36	0	.	GRCh38	chr14	64587272	64587272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagattgaagaagaagtaGggagactctttcgtaccaat	15	9	11	6	1	1	5	0	1	1	4	2	7	1	5	1	1	1	2	1	1	6	4	rs768722132		C3L-00144_TP	C3L-00144_NB	G	G																c.790G>T	p.Gly264Trp	p.G264W	ENST00000298705	10/12	109	99	10	112	112	0	strelka-varscan-mutect	PPP1R36,missense_variant,p.Gly264Trp,ENST00000298705,NM_172365.2;RP11-973N13.3,intron_variant,,ENST00000556634,;RP11-973N13.3,intron_variant,,ENST00000554454,;PPP1R36,3_prime_UTR_variant,,ENST00000467261,;PPP1R36,non_coding_transcript_exon_variant,,ENST00000554400,;PPP1R36,non_coding_transcript_exon_variant,,ENST00000556023,;	T	ENST00000298705	Transcript	missense_variant	886/1405	790/1269	264/422	G/W	Ggg/Tgg	rs768722132	1		1	PPP1R36	HGNC	HGNC:20097	protein_coding	YES	CCDS9767.1	ENSP00000298705	Q96LQ0		UPI0000070446	NM_172365.2	deleterious(0)		10/12		hmmpanther:PTHR21055,Pfam_domain:PF14895																	MODERATE	1	SNV	1			1										PASS		rs768722132	.												T	3	4	12	64587272	64587272	G	T	1	0	0	0	0	1	0	0	0	12490	1000	35	2		2	PPP1R36	14	64587272	Missense_Mutation	SNP	G	C3L-00144_TP	2512099	64587272	42456446	1322	5601											
PLEK2	0	.	GRCh38	chr14	67392745	67392745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccatgcttcggacacccaCaggcctgaggaagttctcct	8	9	9	15	1	1	1	0	1	1	0	4	3	2	3	4	3	1	2	4	3	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.586G>T	p.Val196Leu	p.V196L	ENST00000216446	5/9	221	196	25	193	192	1	strelka-varscan-mutect	PLEK2,missense_variant,p.Val196Leu,ENST00000216446,NM_016445.1;PLEK2,missense_variant,p.Val130Leu,ENST00000554395,;PLEK2,upstream_gene_variant,,ENST00000556532,;PLEK2,3_prime_UTR_variant,,ENST00000553387,;PLEK2,intron_variant,,ENST00000555803,;	A	ENST00000216446	Transcript	missense_variant	727/1549	586/1062	196/353	V/L	Gtg/Ttg		1		-1	PLEK2	HGNC	HGNC:19238	protein_coding	YES	CCDS9782.1	ENSP00000216446	Q9NYT0		UPI0000035D89	NM_016445.1	tolerated(0.13)		5/9		PROSITE_profiles:PS50186,hmmpanther:PTHR12092,hmmpanther:PTHR12092:SF2,Pfam_domain:PF00610,Gene3D:1.10.10.10,SMART_domains:SM00049,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	67392745	67392745	C	A	1	0	0	0	0	1	0	0	0	12147	478	17	2		2	PLEK2	14	67392745	Missense_Mutation	SNP	C	C3L-00144_TP	2805473	67392745	39650973	1323	5602											
SMOC1	0	.	GRCh38	chr14	70023363	70023363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccaagaaatgtgcccggCgtttcaccgactactgtgac	10	8	10	13	3	1	2	1	1	0	1	1	3	1	2	3	1	3	1	3	1	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1207C>A	p.Arg403Ser	p.R403S	ENST00000361956	11/12	337	257	80	288	287	1	strelka-varscan-mutect	SMOC1,missense_variant,p.Arg403Ser,ENST00000381280,NM_022137.5;SMOC1,missense_variant,p.Arg403Ser,ENST00000361956,NM_001034852.2;	A	ENST00000361956	Transcript	missense_variant	1470/2040	1207/1308	403/435	R/S	Cgt/Agt		1		1	SMOC1	HGNC	HGNC:20318	protein_coding	YES	CCDS32110.1	ENSP00000355110	Q9H4F8		UPI0000071CCF	NM_001034852.2	deleterious(0)		11/12		hmmpanther:PTHR12352,hmmpanther:PTHR12352:SF13,Gene3D:1.10.238.10,Pfam_domain:PF10591,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		rs1322307106	.												A	3	1	12	70023363	70023363	C	A	1	0	0	0	0	1	0	0	0	15122	768	27	1		1	SMOC1	14	70023363	Missense_Mutation	SNP	C	C3L-00144_TP	2630618	70023363	37020355	1324	5603											
HEATR4	0	.	GRCh38	chr14	73520936	73520936	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctggcgaaagtagctctGggtttggggctgggagaggc	7	8	18	8	1	1	1	0	0	1	1	1	3	1	1	1	6	1	4	1	6	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.985C>T	p.Gln329Ter	p.Q329*	ENST00000553558	4/18	199	176	23	157	157	0	strelka-varscan-mutect	HEATR4,stop_gained,p.Gln329Ter,ENST00000553558,NM_001220484.1;HEATR4,stop_gained,p.Gln329Ter,ENST00000334988,NM_203309.2;HEATR4,downstream_gene_variant,,ENST00000556455,;HEATR4,downstream_gene_variant,,ENST00000563329,;HEATR4,downstream_gene_variant,,ENST00000557603,;RP3-414A15.11,upstream_gene_variant,,ENST00000553394,;RP3-414A15.2,upstream_gene_variant,,ENST00000555972,;	A	ENST00000553558	Transcript	stop_gained	1307/3523	985/3081	329/1026	Q/*	Cag/Tag		1		-1	HEATR4	HGNC	HGNC:16761	protein_coding	YES	CCDS9815.2	ENSP00000450444	Q86WZ0		UPI00001FD7FD	NM_001220484.1			4/18		hmmpanther:PTHR12697,hmmpanther:PTHR12697:SF20																	HIGH		SNV	5			1										PASS		.	.												A	4	1	12	73520936	73520936	G	A	1	0	0	0	0	0	1	0	0	6912	1357	47	3		3	HEATR4	14	73520936	Nonsense_Mutation	SNP	G	C3L-00144_TP	3497573	73520936	33522782	1325	5604											
ENTPD5	0	.	GRCh38	chr14	73976352	73976352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggcaggaacgtgatttggGtggaggctccccctaggtcc	6	8	17	10	1	0	1	0	1	0	0	2	3	2	3	3	7	1	2	3	7	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.614C>A	p.Thr205Asn	p.T205N	ENST00000334696	9/16	278	239	39	227	227	0	strelka-varscan-mutect	ENTPD5,missense_variant,p.Thr205Asn,ENST00000334696,NM_001249.2;ENTPD5,missense_variant,p.Thr205Asn,ENST00000557325,;ENTPD5,missense_variant,p.Thr205Asn,ENST00000553284,;ENTPD5,upstream_gene_variant,,ENST00000555829,;	T	ENST00000334696	Transcript	missense_variant	934/5842	614/1287	205/428	T/N	aCc/aAc		1		-1	ENTPD5	HGNC	HGNC:3367	protein_coding	YES	CCDS9825.1	ENSP00000335246	O75356	A0A024R6D3	UPI0000052B69	NM_001249.2	deleterious(0)		9/16		hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF35,Pfam_domain:PF01150																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	73976352	73976352	G	T	1	0	0	0	0	1	0	0	0	4987	1261	44	2		2	ENTPD5	14	73976352	Missense_Mutation	SNP	G	C3L-00144_TP	455416	73976352	33067366	1326	5605											
YLPM1	0	.	GRCh38	chr14	74799215	74799215	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgatagaagtttggataaTgagtgggacagagattatgg	14	12	14	1	0	0	4	0	2	0	2	0	7	0	6	0	3	0	1	0	3	5	5	rs751081719		C3L-00144_TP	C3L-00144_NB	T	T																c.3918T>A	p.Asn1306Lys	p.N1306K	ENST00000325680	5/21	238	197	41	230	228	2	strelka-varscan-mutect	YLPM1,missense_variant,p.Asn1306Lys,ENST00000325680,NM_019589.2;YLPM1,intron_variant,,ENST00000552421,;YLPM1,missense_variant,p.Asn859Lys,ENST00000549293,;	A	ENST00000325680	Transcript	missense_variant	4042/7108	3918/6441	1306/2146	N/K	aaT/aaA	rs751081719	1		1	YLPM1	HGNC	HGNC:17798	protein_coding	YES	CCDS45135.1	ENSP00000324463	P49750		UPI00006C1433	NM_019589.2	tolerated_low_confidence(0.17)		5/21		hmmpanther:PTHR13413,hmmpanther:PTHR13413:SF0																	MODERATE	1	SNV	5			1										PASS		rs751081719	.												A	3	1	12	74799215	74799215	T	A	1	0	0	0	0	1	0	0	0	18048	1461	51	4		4	YLPM1	14	74799215	Missense_Mutation	SNP	T	C3L-00144_TP	822863	74799215	32244503	1327	5606											
GPATCH2L	0	.	GRCh38	chr14	76195961	76195961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagcatctttgtctaGccccagtgcaggtgattaca	9	10	10	12	0	2	1	0	1	2	0	2	1	2	1	3	2	4	2	3	2	2	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1277G>T	p.Ser426Ile	p.S426I	ENST00000261530	9/10	326	298	28	340	340	0	strelka-varscan-mutect	GPATCH2L,missense_variant,p.Ser426Ile,ENST00000261530,NM_017926.3;GPATCH2L,missense_variant,p.Ser421Ile,ENST00000621494,NM_017972.3;GPATCH2L,missense_variant,p.Ser421Ile,ENST00000312858,;GPATCH2L,missense_variant,p.Ala47Ser,ENST00000554799,;GPATCH2L,missense_variant,p.Ala47Ser,ENST00000553588,;GPATCH2L,non_coding_transcript_exon_variant,,ENST00000556675,;GPATCH2L,missense_variant,p.Ser19Ile,ENST00000556372,;GPATCH2L,3_prime_UTR_variant,,ENST00000554375,;	T	ENST00000261530	Transcript	missense_variant	1343/14007	1277/1449	426/482	S/I	aGc/aTc		1		1	GPATCH2L	HGNC	HGNC:20210	protein_coding	YES	CCDS9848.1	ENSP00000261530	Q9NWQ4	A0A024R6E4	UPI000006FA38	NM_017926.3	deleterious(0.02)		9/10		hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	76195961	76195961	G	T	1	0	0	0	0	1	0	0	0	6492	971	34	2		2	GPATCH2L	14	76195961	Missense_Mutation	SNP	G	C3L-00144_TP	1396746	76195961	30847757	1328	5607											
ADCK1	0	.	GRCh38	chr14	77907833	77907833	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccactgggacctgtccacgGagcgggtcctcctgatggag	6	8	14	13	2	0	1	0	1	0	0	4	4	4	4	5	4	1	0	5	4	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.772G>C	p.Glu258Gln	p.E258Q	ENST00000238561	7/11	203	149	54	153	153	0	strelka-varscan-mutect	ADCK1,missense_variant,p.Glu258Gln,ENST00000238561,NM_020421.3;ADCK1,missense_variant,p.Glu190Gln,ENST00000341211,NM_001142545.1;ADCK1,intron_variant,,ENST00000557501,;ADCK1,non_coding_transcript_exon_variant,,ENST00000555333,;ADCK1,upstream_gene_variant,,ENST00000556560,;ADCK1,3_prime_UTR_variant,,ENST00000393639,;	C	ENST00000238561	Transcript	missense_variant	871/2234	772/1572	258/523	E/Q	Gag/Cag		1		1	ADCK1	HGNC	HGNC:19038	protein_coding	YES	CCDS9869.1	ENSP00000238561	Q86TW2		UPI000014035F	NM_020421.3	tolerated(0.19)		7/11		Gene3D:3.90.1200.10,hmmpanther:PTHR10566,hmmpanther:PTHR10566:SF58,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	77907833	77907833	G	C	1	0	0	0	0	1	0	0	0	331	1175	41	4		4	ADCK1	14	77907833	Missense_Mutation	SNP	G	C3L-00144_TP	1711872	77907833	29135885	1329	5608											
NRXN3	0	.	GRCh38	chr14	79861541	79861541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagctggcaaaatgaataaCcgtgatctcaaaccccagcc	14	6	7	14	1	1	2	1	2	1	0	2	2	1	2	5	1	4	2	5	1	5	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.4572C>T	p.=	p.N1524N	ENST00000634499	20/20	193	152	41	218	218	0	strelka-varscan-mutect	NRXN3,synonymous_variant,p.=,ENST00000634499,;NRXN3,synonymous_variant,p.=,ENST00000635466,;NRXN3,synonymous_variant,p.=,ENST00000557594,NM_001272020.1;NRXN3,intron_variant,,ENST00000281127,NM_138970.4;NRXN3,intron_variant,,ENST00000428277,NM_001105250.2;NRXN3,intron_variant,,ENST00000554719,NM_004796.5;NRXN3,intron_variant,,ENST00000556003,;NRXN3,3_prime_UTR_variant,,ENST00000554738,;NRXN3,3_prime_UTR_variant,,ENST00000555387,;	T	ENST00000634499	Transcript	synonymous_variant	5577/6069	4572/4995	1524/1664	N	aaC/aaT		1		1	NRXN3	HGNC	HGNC:8010	protein_coding			ENSP00000488920		A0A0U1RQC5	UPI000719A152				20/20		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF405																	LOW		SNV	5			1										PASS		.	.												T	2	4	12	79861541	79861541	C	T	1	0	0	0	0	0	0	0	1	10726	506	18	3		3	NRXN3	14	79861541	Silent	SNP	C	C3L-00144_TP	1953708	79861541	27182177	1330	5609											
DIO2	0	.	GRCh38	chr14	80206325	80206325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctttgctaaaacctgatGgaggacaatttagctaaaat	15	12	7	7	0	1	1	0	1	1	0	1	3	1	3	1	2	3	2	1	2	6	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.236C>A	p.Pro79Gln	p.P79Q	ENST00000555750	2/3	180	162	18	195	192	3	strelka-varscan-mutect	DIO2,missense_variant,p.Pro79Gln,ENST00000422005,NM_001242503.2,NM_001242502.1;DIO2,missense_variant,p.Pro79Gln,ENST00000555750,NM_001007023.3;DIO2,intron_variant,,ENST00000557010,NM_001324462.1,NM_000793.5;DIO2,intron_variant,,ENST00000438257,NM_013989.4;DIO2,intron_variant,,ENST00000556811,;DIO2,intron_variant,,ENST00000557125,;DIO2,downstream_gene_variant,,ENST00000554188,;DIO2,missense_variant,p.Pro27Gln,ENST00000555844,;	T	ENST00000555750	Transcript	missense_variant	264/1049	236/930	79/309	P/Q	cCa/cAa		1		-1	DIO2	HGNC	HGNC:2884	protein_coding	YES	CCDS55934.1	ENSP00000450980		A0A0A0MTQ2	UPI000046D384	NM_001007023.3	tolerated_low_confidence(0.06)		2/3																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	80206325	80206325	G	T	1	0	0	0	0	1	0	0	0	4330	1348	47	2		2	DIO2	14	80206325	Missense_Mutation	SNP	G	C3L-00144_TP	344784	80206325	26837393	1331	5610											
EML5	0	.	GRCh38	chr14	88738966	88738966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaatacaaccatctctgcCaccagtagcaaagccttctt	13	9	5	14	1	2	0	0	0	2	0	3	1	2	0	4	0	5	2	4	0	5	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.760G>T	p.Gly254Cys	p.G254C	ENST00000554922	6/44	274	223	51	229	229	0	strelka-varscan-mutect	EML5,missense_variant,p.Gly254Cys,ENST00000554922,NM_183387.2;EML5,missense_variant,p.Gly254Cys,ENST00000380664,;	A	ENST00000554922	Transcript	missense_variant	1009/9570	760/5934	254/1977	G/C	Ggc/Tgc		1		-1	EML5	HGNC	HGNC:18197	protein_coding	YES	CCDS45148.1	ENSP00000451998	Q05BV3		UPI00001C0438	NM_183387.2	deleterious(0)		6/44		Gene3D:2.130.10.10,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF50978																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	88738966	88738966	C	A	1	0	0	0	0	1	0	0	0	4943	594	21	2		2	EML5	14	88738966	Missense_Mutation	SNP	C	C3L-00144_TP	8532641	88738966	18304752	1332	5611											
SLC24A4	0	.	GRCh38	chr14	92325934	92325934	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaaatagaaagttgatggCcccagtgaatgggacacaga	16	6	13	6	0	0	5	0	2	0	3	0	7	0	6	2	2	0	1	2	2	4	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.197C>G	p.Ala66Gly	p.A66G	ENST00000532405	2/17	149	133	16	173	173	0	strelka-varscan-mutect	SLC24A4,missense_variant,p.Ala66Gly,ENST00000532405,NM_153646.3;SLC24A4,missense_variant,p.Ala66Gly,ENST00000531433,NM_153647.3;SLC24A4,missense_variant,p.Ala2Gly,ENST00000393265,NM_153648.3;	G	ENST00000532405	Transcript	missense_variant	423/9950	197/1869	66/622	A/G	gCc/gGc		1		1	SLC24A4	HGNC	HGNC:10978	protein_coding	YES	CCDS9903.2	ENSP00000431840	Q8NFF2		UPI000044C5DE	NM_153646.3	tolerated(0.21)		2/17		hmmpanther:PTHR10846:SF21,hmmpanther:PTHR10846																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	92325934	92325934	C	G	1	0	0	0	0	1	0	0	0	14734	739	26	4		4	SLC24A4	14	92325934	Missense_Mutation	SNP	C	C3L-00144_TP	3586968	92325934	14717784	1333	5612											
UNC79	0	.	GRCh38	chr14	93643656	93643656	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcacttaagcccagacctGgcagccccgctgctgctgga	8	8	10	15	1	1	1	1	0	0	1	1	2	1	2	4	2	4	4	4	2	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.5589G>T	p.=	p.L1863L	ENST00000256339	35/50	341	275	66	318	317	1	strelka-varscan-mutect	UNC79,synonymous_variant,p.=,ENST00000553484,;UNC79,synonymous_variant,p.=,ENST00000555664,;UNC79,synonymous_variant,p.=,ENST00000256339,NM_020818.3;UNC79,synonymous_variant,p.=,ENST00000393151,;UNC79,synonymous_variant,p.=,ENST00000621021,;	T	ENST00000256339	Transcript	synonymous_variant	6244/8400	5589/7377	1863/2458	L	ctG/ctT		1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3			35/50		Low_complexity_(Seg):seg,hmmpanther:PTHR21696:SF2,hmmpanther:PTHR21696,Superfamily_domains:SSF48371																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	12	93643656	93643656	G	T	1	0	0	0	0	0	0	0	1	17520	1335	47	2		2	UNC79	14	93643656	Silent	SNP	G	C3L-00144_TP	1317722	93643656	13400062	1334	5613											
SERPINA4	0	.	GRCh38	chr14	94569453	94569453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccgaggctgcagcagccaCcagcttcgcgatcaaattct	10	7	9	15	3	2	0	1	0	1	0	3	2	2	0	3	1	4	4	3	1	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1142C>A	p.Thr381Asn	p.T381N	ENST00000557004	5/5	243	215	28	230	230	0	strelka-varscan-mutect	SERPINA4,missense_variant,p.Thr381Asn,ENST00000557004,NM_006215.3;SERPINA4,missense_variant,p.Thr381Asn,ENST00000555095,NM_001289032.1;SERPINA4,missense_variant,p.Thr381Asn,ENST00000298841,NM_001289033.1;SERPINA5,intron_variant,,ENST00000553780,;SERPINA5,intron_variant,,ENST00000554220,;	A	ENST00000557004	Transcript	missense_variant	1563/2012	1142/1284	381/427	T/N	aCc/aAc		1		1	SERPINA4	HGNC	HGNC:8948	protein_coding	YES	CCDS9927.1	ENSP00000450838	P29622	A0A024R6I9	UPI000000CBEF	NM_006215.3	deleterious(0)		5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF194,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	94569453	94569453	C	A	1	0	0	0	0	1	0	0	0	14367	507	18	2		2	SERPINA4	14	94569453	Missense_Mutation	SNP	C	C3L-00144_TP	925797	94569453	12474265	1335	5614											
SYNE3	0	.	GRCh38	chr14	95444607	95444607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaagctgctccaaagtCtttgtgctgagcgagcaggc	10	9	11	11	1	2	1	1	1	1	0	3	2	3	1	1	1	5	4	1	1	3	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1654G>T	p.Asp552Tyr	p.D552Y	ENST00000334258	9/17	98	82	16	88	88	0	strelka-mutect	SYNE3,missense_variant,p.Asp552Tyr,ENST00000557275,;SYNE3,missense_variant,p.Asp552Tyr,ENST00000334258,NM_152592.3;SYNE3,missense_variant,p.Asp309Tyr,ENST00000554873,;SYNE3,missense_variant,p.Asp552Tyr,ENST00000553340,;SYNE3,non_coding_transcript_exon_variant,,ENST00000555759,;	A	ENST00000334258	Transcript	missense_variant	1669/3275	1654/2928	552/975	D/Y	Gac/Tac		1		-1	SYNE3	HGNC	HGNC:19861	protein_coding	YES	CCDS9935.1	ENSP00000334308	Q6ZMZ3		UPI0000246F54	NM_152592.3	deleterious(0)		9/17		hmmpanther:PTHR11915,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	95444607	95444607	C	A	1	0	0	0	0	1	0	0	0	15839	913	32	2		2	SYNE3	14	95444607	Missense_Mutation	SNP	C	C3L-00144_TP	875154	95444607	11599111	1336	5615											
VRK1	0	.	GRCh38	chr14	96876029	96876029	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctttaattttatatgtaaGaagcgaaagaaagaaattga	18	13	7	3	1	1	4	0	1	1	3	1	5	1	4	0	0	1	1	0	0	8	7			C3L-00144_TP	C3L-00144_NB	G	G																c.1069-1G>C		p.X357_splice	ENST00000216639		340	283	57	320	320	0	strelka-varscan-mutect	VRK1,splice_acceptor_variant,,ENST00000216639,NM_003384.2;VRK1,coding_sequence_variant,p.=,ENST00000553683,;VRK1,intron_variant,,ENST00000557222,;VRK1,splice_acceptor_variant,,ENST00000555067,;VRK1,upstream_gene_variant,,ENST00000555402,;	C	ENST00000216639	Transcript	splice_acceptor_variant	-/1745	1069/1191	357/396			COSM4952776	1		1	VRK1	HGNC	HGNC:12718	protein_coding	YES	CCDS9947.1	ENSP00000216639	Q99986		UPI0000073867	NM_003384.2				11/12												1						HIGH	1	SNV	1		1	1										PASS		.	.												C	5	2	12	96876029	96876029	G	C	1	0	0	0	0	0	0	1	0	17768	956	33	4		4	VRK1	14	96876029	Splice_Site	SNP	G	C3L-00144_TP	1431422	96876029	10167689	1337	5616											
CYP46A1	0	.	GRCh38	chr14	99725410	99725410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttcagcacctatgtcatggGgcggatggacacatactttg	9	11	12	9	1	2	0	2	0	0	0	2	2	2	2	1	4	2	2	1	4	2	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1196G>T	p.Gly399Val	p.G399V	ENST00000261835	13/15	216	181	35	179	179	0	strelka-varscan-mutect	CYP46A1,missense_variant,p.Gly399Val,ENST00000261835,NM_006668.1;CYP46A1,missense_variant,p.Gly302Val,ENST00000380228,;CYP46A1,downstream_gene_variant,,ENST00000556313,;CYP46A1,3_prime_UTR_variant,,ENST00000554917,;CYP46A1,non_coding_transcript_exon_variant,,ENST00000554176,;CYP46A1,downstream_gene_variant,,ENST00000556822,;	T	ENST00000261835	Transcript	missense_variant	1300/2181	1196/1503	399/500	G/V	gGg/gTg		1		1	CYP46A1	HGNC	HGNC:2641	protein_coding	YES	CCDS9954.1	ENSP00000261835	Q9Y6A2		UPI00001281DC	NM_006668.1	deleterious(0)		13/15		Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24293,hmmpanther:PTHR24293:SF2,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	99725410	99725410	G	T	1	0	0	0	0	1	0	0	0	3985	1232	43	2		2	CYP46A1	14	99725410	Missense_Mutation	SNP	G	C3L-00144_TP	2849381	99725410	7318308	1338	5617											
TECPR2	0	.	GRCh38	chr14	102434998	102434998	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaggacagctgactccGgtctctgccttggcagccag	6	8	15	12	1	1	1	0	1	1	0	3	3	2	3	3	4	3	2	3	4	0	1	rs765050564		C3L-00144_TP	C3L-00144_NB	G	G																c.2181G>T	p.=	p.P727P	ENST00000359520	9/20	155	119	36	158	158	0	strelka-varscan-mutect	TECPR2,synonymous_variant,p.=,ENST00000359520,NM_014844.3;TECPR2,synonymous_variant,p.=,ENST00000558678,NM_001172631.1;TECPR2,intron_variant,,ENST00000560060,;TECPR2,upstream_gene_variant,,ENST00000557786,;	T	ENST00000359520	Transcript	synonymous_variant	2407/8686	2181/4236	727/1411	P	ccG/ccT	rs765050564	1		1	TECPR2	HGNC	HGNC:19957	protein_coding	YES	CCDS32162.1	ENSP00000352510	O15040		UPI00001FDC38	NM_014844.3			9/20		hmmpanther:PTHR23287,hmmpanther:PTHR23287:SF16																	LOW	1	SNV	1			1										PASS		rs765050564	.												T	2	4	12	102434998	102434998	G	T	1	0	0	0	0	0	0	0	1	16155	1103	39	1		1	TECPR2	14	102434998	Silent	SNP	G	C3L-00144_TP	2709588	102434998	4608720	1339	5618											
TNFAIP2	0	.	GRCh38	chr14	103127043	103127043	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctggagcgcgggcagctgGaggcggcgcggccgctgctg	3	4	21	13	7	0	0	0	0	0	0	0	2	0	2	1	6	3	5	1	6	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.274G>T	p.Glu92Ter	p.E92*	ENST00000560869	3/12	23	17	6	21	21	0	strelka-mutect	TNFAIP2,stop_gained,p.Glu92Ter,ENST00000560869,;TNFAIP2,stop_gained,p.Glu92Ter,ENST00000333007,NM_006291.2;TNFAIP2,upstream_gene_variant,,ENST00000560670,;TNFAIP2,downstream_gene_variant,,ENST00000558056,;LINC00677,upstream_gene_variant,,ENST00000558224,;LINC00677,upstream_gene_variant,,ENST00000560742,;TNFAIP2,intron_variant,,ENST00000559195,;TNFAIP2,intron_variant,,ENST00000559406,;TNFAIP2,intron_variant,,ENST00000560562,;TNFAIP2,upstream_gene_variant,,ENST00000560428,;TNFAIP2,upstream_gene_variant,,ENST00000561156,;	T	ENST00000560869	Transcript	stop_gained	913/4683	274/1965	92/654	E/*	Gag/Tag		1		1	TNFAIP2	HGNC	HGNC:11895	protein_coding	YES	CCDS9979.1	ENSP00000452634	Q03169		UPI0000164A41				3/12		Low_complexity_(Seg):seg,hmmpanther:PTHR21292:SF4,hmmpanther:PTHR21292																	HIGH		SNV	5			1										PASS		rs935901268	.												T	4	4	12	103127043	103127043	G	T	1	0	0	0	0	0	1	0	0	16747	1175	41	2		2	TNFAIP2	14	103127043	Nonsense_Mutation	SNP	G	C3L-00144_TP	692045	103127043	3916675	1340	5619											
AHNAK2	0	.	GRCh38	chr14	104942406	104942406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcagcggaagggggctGaatgctgaggtgagtggtct	9	8	18	6	1	2	4	1	3	1	1	2	5	2	5	0	5	2	2	0	5	2	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.13045C>A	p.Gln4349Lys	p.Q4349K	ENST00000333244	7/7	500	455	45	441	441	0	strelka-varscan-mutect	AHNAK2,missense_variant,p.Gln4349Lys,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;PLD4,downstream_gene_variant,,ENST00000392593,NM_138790.2;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	T	ENST00000333244	Transcript	missense_variant	13165/18254	13045/17388	4349/5795	Q/K	Cag/Aag		1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	tolerated(0.13)		7/7																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	104942406	104942406	G	T	1	0	0	0	0	1	0	0	0	492	1299	45	2		2	AHNAK2	14	104942406	Missense_Mutation	SNP	G	C3L-00144_TP	1815363	104942406	2101312	1341	5620											
NIPA1	0	.	GRCh38	chr15	22823783	22823783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctgctgctcatcttctgGatcgcgccggcccatgggcc	3	10	12	16	3	3	0	1	0	2	0	4	1	3	1	3	3	3	3	3	3	0	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.534G>T	p.Trp178Cys	p.W178C	ENST00000337435	5/5	238	182	56	202	202	0	strelka-varscan-mutect	NIPA1,missense_variant,p.Trp103Cys,ENST00000437912,;NIPA1,missense_variant,p.Trp178Cys,ENST00000337435,NM_144599.4;NIPA1,missense_variant,p.Trp103Cys,ENST00000561183,NM_001142275.1;NIPA1,downstream_gene_variant,,ENST00000560069,;NIPA1,3_prime_UTR_variant,,ENST00000559448,;NIPA1,3_prime_UTR_variant,,ENST00000557930,;	T	ENST00000337435	Transcript	missense_variant	559/6567	534/990	178/329	W/C	tgG/tgT		1		1	NIPA1	HGNC	HGNC:17043	protein_coding	YES	CCDS73691.1	ENSP00000337452	Q7RTP0		UPI00001D9756	NM_144599.4	tolerated(0.16)		5/5		Transmembrane_helices:TMhelix,hmmpanther:PTHR12570:SF17,hmmpanther:PTHR12570,Pfam_domain:PF05653																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	22823783	22823783	G	T	1	0	0	0	0	1	0	0	0	10457	1183	41	2		2	NIPA1	15	22823783	Missense_Mutation	SNP	G	C3L-00144_TP		22823783	79167406	1342	5621											
MKRN3	0	.	GRCh38	chr15	23565939	23565939	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagccctgccacatgcggcaAggggctgggcccccttccct	5	6	12	18	1	0	0	0	0	0	0	1	0	1	0	5	4	3	2	5	4	1	1	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.157A>C	p.=	p.R53R	ENST00000314520	1/1	221	177	44	256	256	0	strelka-varscan-mutect	MKRN3,synonymous_variant,p.=,ENST00000314520,NM_005664.3;MKRN3,synonymous_variant,p.=,ENST00000568252,;MKRN3,synonymous_variant,p.=,ENST00000564592,;AC126407.1,intron_variant,,ENST00000626930,;MIR4508,upstream_gene_variant,,ENST00000584178,;MKRN3-AS1,downstream_gene_variant,,ENST00000563044,;MKRN3,upstream_gene_variant,,ENST00000568945,;MKRN3,intron_variant,,ENST00000570112,;	C	ENST00000314520	Transcript	synonymous_variant	256/2337	157/1524	53/507	R	Agg/Cgg		1		1	MKRN3	HGNC	HGNC:7114	protein_coding	YES	CCDS10013.1	ENSP00000313881	Q13064		UPI000000DAA1	NM_005664.3			1/1																			LOW		SNV				1										PASS		.	.												C	2	2	12	23565939	23565939	A	C	1	0	0	0	0	0	0	0	1	9576	63	3	5		5	MKRN3	15	23565939	Silent	SNP	A	C3L-00144_TP	742156	23565939	78425250	1343	5622											
OCA2	0	.	GRCh38	chr15	27844975	27844975	+	Missense_Mutation	SNP	A	A	T																															gtacctgaaaaattccatgaAggagaacccatatccatgct																								novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2416T>A	p.Phe806Ile	p.F806I	ENST00000354638	23/24	350	283	67	368	368	0	strelka-varscan-mutect	OCA2,missense_variant,p.Phe806Ile,ENST00000354638,NM_000275.2;OCA2,missense_variant,p.Phe782Ile,ENST00000353809,NM_001300984.1;	T	ENST00000354638	Transcript	missense_variant	2572/3186	2416/2517	806/838	F/I	Ttc/Atc		1		-1	OCA2	HGNC	HGNC:8101	protein_coding	YES	CCDS10020.1	ENSP00000346659	Q04671		UPI000013D158	NM_000275.2	deleterious(0)		23/24		hmmpanther:PTHR10283:SF67,hmmpanther:PTHR10283																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	27844975	27844975	A	T	1	0	0	0	0	1	0	0	0	10892	72	3	4		4	OCA2	15	27844975	Missense_Mutation	SNP	A	C3L-00144_TP	4279036	27844975	74146214	1344	5623	128	2									
OCA2	0	.	GRCh38	chr15	27844977	27844977	+	Missense_Mutation	SNP	G	G	C																															acctgaaaaattccatgaagGagaacccatatccatgctgt																								rs758859062		C3L-00144_TP	C3L-00144_NB	G	G																c.2414C>G	p.Ser805Cys	p.S805C	ENST00000354638	23/24	358	288	70	377	377	0	strelka-varscan-mutect	OCA2,missense_variant,p.Ser805Cys,ENST00000354638,NM_000275.2;OCA2,missense_variant,p.Ser781Cys,ENST00000353809,NM_001300984.1;	C	ENST00000354638	Transcript	missense_variant	2570/3186	2414/2517	805/838	S/C	tCc/tGc	rs758859062	1		-1	OCA2	HGNC	HGNC:8101	protein_coding	YES	CCDS10020.1	ENSP00000346659	Q04671		UPI000013D158	NM_000275.2	deleterious(0)		23/24		hmmpanther:PTHR10283:SF67,hmmpanther:PTHR10283																	MODERATE	1	SNV	1			1										PASS		rs758859062	.												C	3	2	12	27844977	27844977	G	C	1	0	0	0	0	1	0	0	0	10892	1174	41	4		4	OCA2	15	27844977	Missense_Mutation	SNP	G	C3L-00144_TP	2	27844977	74146212	1345	5624	128	2									
GOLGA8T	0	.	GRCh38	chr15	30144828	30144828	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagacctgagtgagctggTgaaaaaagaactctgcttca	13	8	12	8	0	2	5	1	3	1	2	2	5	2	5	1	2	3	3	1	2	4	1	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1418T>A	p.Val473Glu	p.V473E	ENST00000569052	16/19	134	126	8	187	184	3	varscan-mutect	GOLGA8T,missense_variant,p.Val473Glu,ENST00000569052,;RN7SL469P,downstream_gene_variant,,ENST00000621501,;	A	ENST00000569052	Transcript	missense_variant	1418/1896	1418/1896	473/631	V/E	gTg/gAg		1		1	GOLGA8T	HGNC	HGNC:44410	protein_coding	YES		ENSP00000455826		H3BQL2	UPI000246730F		deleterious(0.01)		16/19		hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48																	MODERATE	1	SNV	5			1										PASS		rs776760304	.												A	3	1	12	30144828	30144828	T	A	1	0	0	0	0	1	0	0	0	6458	1696	59	4		4	GOLGA8T	15	30144828	Missense_Mutation	SNP	T	C3L-00144_TP	2299851	30144828	71846361	1346	5625											
GOLGA8Q	0	.	GRCh38	chr15	30562210	30562210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggagccccagcccccCaggagcttggggctgcagac	7	4	14	16	0	0	1	0	0	0	1	1	3	1	3	6	4	4	3	6	4	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1693C>A	p.Gln565Lys	p.Q565K	ENST00000562783	18/19	163	93	70	176	176	0	strelka-varscan-mutect	GOLGA8Q,missense_variant,p.Gln565Lys,ENST00000562783,;RN7SL796P,downstream_gene_variant,,ENST00000613991,;GOLGA8Q,downstream_gene_variant,,ENST00000565941,;	A	ENST00000562783	Transcript	missense_variant	1693/1899	1693/1899	565/632	Q/K	Cag/Aag		1		1	GOLGA8Q	HGNC	HGNC:44408	protein_coding	YES		ENSP00000457904		H3BV12	UPI0000DD8290		deleterious(0)		18/19		hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48,Pfam_domain:PF15070																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	30562210	30562210	C	A	1	0	0	0	0	1	0	0	0	6456	595	21	2		2	GOLGA8Q	15	30562210	Missense_Mutation	SNP	C	C3L-00144_TP	417382	30562210	71428979	1347	5626											
CHRNA7	0	.	GRCh38	chr15	32031015	32031015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtctacttctccctgaGcctcctgcagatcatggacg	7	10	8	16	2	3	2	1	1	2	1	5	3	4	3	4	1	3	1	4	1	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.260G>T	p.Ser87Ile	p.S87I	ENST00000454250	2/10	138	103	35	134	134	0	strelka-varscan-mutect	CHRNA7,missense_variant,p.Ser58Ile,ENST00000306901,NM_000746.5;CHRNA7,missense_variant,p.Ser87Ile,ENST00000454250,NM_001190455.2;CHRNA7,missense_variant,p.Ser58Ile,ENST00000637552,;CHRNA7,missense_variant,p.Ser65Ile,ENST00000636440,;CHRNA7,5_prime_UTR_variant,,ENST00000637033,;CHRNA7,5_prime_UTR_variant,,ENST00000636603,;CHRNA7,5_prime_UTR_variant,,ENST00000635884,;CHRNA7,5_prime_UTR_variant,,ENST00000638106,;CHRNA7,intron_variant,,ENST00000637183,;CHRNA7,intron_variant,,ENST00000635978,;CHRNA7,missense_variant,p.Ser58Ile,ENST00000637350,;CHRNA7,missense_variant,p.Ser58Ile,ENST00000637519,;CHRNA7,missense_variant,p.Ser6Ile,ENST00000636271,;CHRNA7,missense_variant,p.Ser58Ile,ENST00000437966,;CHRNA7,missense_variant,p.Ser58Ile,ENST00000637971,;CHRNA7,missense_variant,p.Ser58Ile,ENST00000638031,;CHRNA7,missense_variant,p.Ser58Ile,ENST00000635722,;CHRNA7,missense_variant,p.Ser58Ile,ENST00000636850,;CHRNA7,missense_variant,p.Ser58Ile,ENST00000636044,;CHRNA7,missense_variant,p.Ser58Ile,ENST00000637786,;CHRNA7,missense_variant,p.Ser14Ile,ENST00000635759,;CHRNA7,non_coding_transcript_exon_variant,,ENST00000636295,;CHRNA7,non_coding_transcript_exon_variant,,ENST00000636647,;	T	ENST00000454250	Transcript	missense_variant	367/2093	260/1596	87/531	S/I	aGc/aTc		1		1	CHRNA7	HGNC	HGNC:1960	protein_coding	YES	CCDS53924.1	ENSP00000407546	P36544		UPI0000E23BA6	NM_001190455.2	tolerated(0.12)		2/10		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF572,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	32031015	32031015	G	T	1	0	0	0	0	1	0	0	0	3148	971	34	2		2	CHRNA7	15	32031015	Missense_Mutation	SNP	G	C3L-00144_TP	1468805	32031015	69960174	1348	5627											
FMN1	0	.	GRCh38	chr15	32902028	32902028	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattaggaatctgggctaaCtcatgtaaaaatctgtaaaa	18	11	7	5	0	3	0	1	0	2	0	3	1	3	1	0	2	1	3	0	2	9	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3390G>T	p.Glu1130Asp	p.E1130D	ENST00000616417	13/21	66	54	12	80	80	0	strelka-varscan-mutect	FMN1,missense_variant,p.Glu1130Asp,ENST00000616417,NM_001277313.1;FMN1,missense_variant,p.Glu907Asp,ENST00000334528,NM_001103184.3;FMN1,missense_variant,p.Glu1130Asp,ENST00000559047,;FMN1,missense_variant,p.Glu1032Asp,ENST00000561249,;FMN1,missense_variant,p.Glu84Asp,ENST00000560317,;FMN1,missense_variant,p.Glu5Asp,ENST00000558711,;	A	ENST00000616417	Transcript	missense_variant	3894/13529	3390/4260	1130/1419	E/D	gaG/gaT		1		-1	FMN1	HGNC	HGNC:3768	protein_coding	YES	CCDS61581.1	ENSP00000479134	Q68DA7		UPI0001AE68B4	NM_001277313.1	deleterious(0.02)		13/21		PROSITE_profiles:PS51444,hmmpanther:PTHR13037:SF11,hmmpanther:PTHR13037,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	32902028	32902028	C	A	1	0	0	0	0	1	0	0	0	5805	564	20	2		2	FMN1	15	32902028	Missense_Mutation	SNP	C	C3L-00144_TP	871013	32902028	69089161	1349	5628											
FMN1	0	.	GRCh38	chr15	33154424	33154424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccaaagctctctctccttCcactagacctccgaggcttt	7	11	5	18	1	2	1	0	0	2	1	6	2	4	1	6	1	1	2	6	1	2	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.491G>T	p.Gly164Val	p.G164V	ENST00000616417	4/21	170	118	52	188	187	1	strelka-varscan-mutect	FMN1,missense_variant,p.Gly164Val,ENST00000616417,NM_001277313.1;FMN1,missense_variant,p.Gly164Val,ENST00000559047,;FMN1,missense_variant,p.Gly164Val,ENST00000561249,;FMN1,missense_variant,p.Gly164Val,ENST00000320930,NM_001277314.1;	A	ENST00000616417	Transcript	missense_variant	995/13529	491/4260	164/1419	G/V	gGa/gTa		1		-1	FMN1	HGNC	HGNC:3768	protein_coding	YES	CCDS61581.1	ENSP00000479134	Q68DA7		UPI0001AE68B4	NM_001277313.1	tolerated(0.05)		4/21		hmmpanther:PTHR13037:SF11,hmmpanther:PTHR13037																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	33154424	33154424	C	A	1	0	0	0	0	1	0	0	0	5805	855	30	2		2	FMN1	15	33154424	Missense_Mutation	SNP	C	C3L-00144_TP	252396	33154424	68836765	1350	5629											
BUB1B	0	.	GRCh38	chr15	40217602	40217602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtttttaccctcagcGgctttcggactgtacagatc	7	14	10	10	2	1	1	1	0	0	1	3	3	1	3	1	3	3	3	1	3	2	5	rs143232848		C3L-00144_TP	C3L-00144_NB	G	G																c.2785G>T	p.Gly929Cys	p.G929C	ENST00000287598	21/23	353	257	96	364	361	3	strelka-varscan-mutect	BUB1B,missense_variant,p.Gly929Cys,ENST00000287598,NM_001211.5;BUB1B,missense_variant,p.Gly943Cys,ENST00000412359,;BUB1B-PAK6,5_prime_UTR_variant,,ENST00000441369,NM_001128628.2;BUB1B-PAK6,missense_variant,p.Gly6Cys,ENST00000558658,;BUB1B-PAK6,synonymous_variant,p.=,ENST00000453867,;BUB1B,non_coding_transcript_exon_variant,,ENST00000558151,;BUB1B-PAK6,upstream_gene_variant,,ENST00000559435,;	T	ENST00000287598	Transcript	missense_variant	2980/3725	2785/3153	929/1050	G/C	Ggc/Tgc	rs143232848	1		1	BUB1B	HGNC	HGNC:1149	protein_coding	YES	CCDS10053.1	ENSP00000287598	O60566		UPI000006E699	NM_001211.5	deleterious(0)		21/23		hmmpanther:PTHR14030:SF4,hmmpanther:PTHR14030,Gene3D:1.10.510.10,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs143232848	.												T	3	4	12	40217602	40217602	G	T	1	0	0	0	0	1	0	0	0	1747	1116	39	1		1	BUB1B	15	40217602	Missense_Mutation	SNP	G	C3L-00144_TP	7063178	40217602	61773587	1351	5630											
CASC5	0	.	GRCh38	chr15	40657371	40657371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctagatgcttgaagaattctCactggtagtgcaccattgca	11	12	9	9	0	1	3	1	1	1	2	2	3	1	3	1	1	3	4	1	1	4	5			C3L-00144_TP	C3L-00144_NB	C	C																c.6689C>T	p.Ser2230Leu	p.S2230L	ENST00000346991	25/27	135	104	31	104	104	0	strelka-varscan-mutect	CASC5,missense_variant,p.Ser2230Leu,ENST00000346991,NM_170589.4;CASC5,missense_variant,p.Ser2204Leu,ENST00000399668,NM_144508.4;CASC5,missense_variant,p.Ser1249Leu,ENST00000526913,;CASC5,downstream_gene_variant,,ENST00000532347,;	T	ENST00000346991	Transcript	missense_variant	7079/9573	6689/7029	2230/2342	S/L	tCa/tTa	COSM699921	1		1	CASC5	HGNC	HGNC:24054	protein_coding	YES	CCDS42023.1	ENSP00000335463	Q8NG31		UPI0000E59BD3	NM_170589.4	deleterious(0)		25/27		hmmpanther:PTHR16520,hmmpanther:PTHR16520:SF3											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	12	40657371	40657371	C	T	1	0	0	0	0	1	0	0	0	2363	838	29	3		3	CASC5	15	40657371	Missense_Mutation	SNP	C	C3L-00144_TP	439769	40657371	61333818	1352	5631											
LTK	0	.	GRCh38	chr15	41511325	41511325	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcggagagggagcccgcGacgtccagccgcccccacca	7	2	13	19	5	0	1	0	0	0	1	1	4	1	2	7	2	3	0	7	2	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.836C>A	p.Ser279Ter	p.S279*	ENST00000263800	7/20	27	17	10	43	43	0	strelka-varscan-mutect	LTK,stop_gained,p.Ser279Ter,ENST00000263800,NM_002344.5;LTK,intron_variant,,ENST00000355166,NM_206961.3;LTK,intron_variant,,ENST00000453182,NM_001135685.1;LTK,intron_variant,,ENST00000561619,;LTK,non_coding_transcript_exon_variant,,ENST00000563518,;LTK,upstream_gene_variant,,ENST00000569283,;	T	ENST00000263800	Transcript	stop_gained	933/3046	836/2595	279/864	S/*	tCg/tAg		1		-1	LTK	HGNC	HGNC:6721	protein_coding	YES	CCDS10077.1	ENSP00000263800	P29376		UPI000013D463	NM_002344.5			7/20		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF294,Pfam_domain:PF12810																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	41511325	41511325	G	T	1	0	0	0	0	0	1	0	0	8986	1059	37	1		1	LTK	15	41511325	Nonsense_Mutation	SNP	G	C3L-00144_TP	853954	41511325	60479864	1353	5632											
PLA2G4D	0	.	GRCh38	chr15	42079644	42079644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggcggtagctcgccaggcGctctggggaaaagacctcca	8	5	14	14	4	1	1	0	0	1	1	3	2	2	2	4	5	1	3	4	5	3	1	rs780118874		C3L-00144_TP	C3L-00144_NB	G	G																c.1210C>A	p.Arg404Ser	p.R404S	ENST00000290472	13/20	114	80	34	134	134	0	strelka-varscan-mutect	PLA2G4D,missense_variant,p.Arg404Ser,ENST00000290472,NM_178034.3;PLA2G4D,downstream_gene_variant,,ENST00000560132,;	T	ENST00000290472	Transcript	missense_variant	1305/3584	1210/2457	404/818	R/S	Cgc/Agc	rs780118874,COSM5362876	1		-1	PLA2G4D	HGNC	HGNC:30038	protein_coding	YES	CCDS32203.1	ENSP00000290472	Q86XP0		UPI00001FE2F2	NM_178034.3	tolerated(0.15)		13/20		Gene3D:3.40.1090.10,Pfam_domain:PF01735,PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF31,SMART_domains:SM00022,Superfamily_domains:SSF52151											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs780118874	.												T	3	4	12	42079644	42079644	G	T	1	0	0	0	0	1	0	0	0	12100	1087	38	1		1	PLA2G4D	15	42079644	Missense_Mutation	SNP	G	C3L-00144_TP	568319	42079644	59911545	1354	5633											
PLA2G4F	0	.	GRCh38	chr15	42156440	42156440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatctcaggtacgttaccCgccagtgcctccacagaggg	9	8	11	13	2	1	1	1	0	1	1	3	1	2	1	4	2	3	3	4	2	3	3	rs752946660		C3L-00144_TP	C3L-00144_NB	C	C																c.110G>T	p.Arg37Leu	p.R37L	ENST00000397272	1/20	178	137	41	181	181	0	strelka-varscan-mutect	PLA2G4F,missense_variant,p.Arg37Leu,ENST00000397272,NM_213600.3;VPS39,downstream_gene_variant,,ENST00000318006,NM_015289.3;VPS39,downstream_gene_variant,,ENST00000348544,NM_001301138.1;PLA2G4F,missense_variant,p.Arg37Leu,ENST00000569985,;PLA2G4F,missense_variant,p.Arg37Leu,ENST00000290497,;PLA2G4F,missense_variant,p.Arg37Leu,ENST00000561627,;PLA2G4F,missense_variant,p.Arg37Leu,ENST00000565553,;VPS39,downstream_gene_variant,,ENST00000562258,;VPS39,downstream_gene_variant,,ENST00000614932,;VPS39,downstream_gene_variant,,ENST00000564994,;	A	ENST00000397272	Transcript	missense_variant,splice_region_variant	197/5587	110/2550	37/849	R/L	cGg/cTg	rs752946660	1		-1	PLA2G4F	HGNC	HGNC:27396	protein_coding	YES	CCDS32204.1	ENSP00000380442	Q68DD2		UPI0000160965	NM_213600.3	deleterious(0.02)		1/20																			MODERATE	1	SNV	1			1										PASS		rs752946660	.												A	3	1	12	42156440	42156440	C	A	1	0	0	0	0	1	0	0	0	12102	666	23	1		1	PLA2G4F	15	42156440	Missense_Mutation	SNP	C	C3L-00144_TP	76796	42156440	59834749	1355	5634											
STARD9	0	.	GRCh38	chr15	42669181	42669181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaccagctgactaaagactgGacccagaagtggaatgattg	14	7	12	8	0	0	4	0	2	0	2	0	7	0	6	2	2	1	1	2	2	4	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1341G>T	p.Trp447Cys	p.W447C	ENST00000290607	16/33	79	57	22	73	73	0	strelka-varscan-mutect	STARD9,missense_variant,p.Trp447Cys,ENST00000290607,NM_020759.2;STARD9,missense_variant,p.Trp22Cys,ENST00000569419,;STARD9,non_coding_transcript_exon_variant,,ENST00000564158,;STARD9,non_coding_transcript_exon_variant,,ENST00000568493,;	T	ENST00000290607	Transcript	missense_variant	1398/15567	1341/14103	447/4700	W/C	tgG/tgT		1		1	STARD9	HGNC	HGNC:19162	protein_coding	YES	CCDS53935.1	ENSP00000290607	Q9P2P6		UPI0001BE8155	NM_020759.2	deleterious(0)		16/33																			MODERATE	1	SNV	5			1										PASS		rs1320231619	.												T	3	4	12	42669181	42669181	G	T	1	0	0	0	0	1	0	0	0	15639	1183	41	2		2	STARD9	15	42669181	Missense_Mutation	SNP	G	C3L-00144_TP	512741	42669181	59322008	1356	5635											
CDAN1	0	.	GRCh38	chr15	42734276	42734276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggcggccttgcagagctgGtgagaagcacagcagccgct	10	5	15	11	2	0	2	0	1	0	2	0	3	0	2	2	3	5	5	2	3	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1207C>T	p.Pro403Ser	p.P403S	ENST00000356231	7/28	485	345	140	448	448	0	strelka-varscan-mutect	CDAN1,missense_variant,p.Pro403Ser,ENST00000356231,NM_138477.2;TTBK2,downstream_gene_variant,,ENST00000267890,NM_173500.3;CDAN1,downstream_gene_variant,,ENST00000563260,;CTD-2036P10.3,upstream_gene_variant,,ENST00000567456,;CDAN1,upstream_gene_variant,,ENST00000562465,;	A	ENST00000356231	Transcript	missense_variant	1231/4637	1207/3684	403/1227	P/S	Cca/Tca		1		-1	CDAN1	HGNC	HGNC:1713	protein_coding	YES	CCDS32209.1	ENSP00000348564	Q8IWY9		UPI0000229BCB	NM_138477.2	tolerated(0.08)		7/28		hmmpanther:PTHR28678																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	42734276	42734276	G	A	1	0	0	0	0	1	0	0	0	2757	1261	44	3		3	CDAN1	15	42734276	Missense_Mutation	SNP	G	C3L-00144_TP	65095	42734276	59256913	1357	5636											
STRC	0	.	GRCh38	chr15	43609321	43609321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtacttgcatcttcttcCagagaaactgtgcctacaag	10	12	9	10	0	2	1	0	0	2	1	3	2	3	1	2	1	5	2	2	1	4	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3512G>T	p.Trp1171Leu	p.W1171L	ENST00000450892	16/29	363	283	80	408	408	0	strelka-varscan-mutect	STRC,missense_variant,p.Trp1171Leu,ENST00000450892,NM_153700.2;STRC,missense_variant,p.Trp398Leu,ENST00000541030,;CKMT1B,downstream_gene_variant,,ENST00000411560,;STRC,3_prime_UTR_variant,,ENST00000428650,;STRC,3_prime_UTR_variant,,ENST00000440125,;STRC,3_prime_UTR_variant,,ENST00000455136,;STRC,non_coding_transcript_exon_variant,,ENST00000485556,;STRC,non_coding_transcript_exon_variant,,ENST00000471703,;STRC,non_coding_transcript_exon_variant,,ENST00000448437,;STRC,downstream_gene_variant,,ENST00000483250,;STRC,downstream_gene_variant,,ENST00000470279,;	A	ENST00000450892	Transcript	missense_variant	3590/5680	3512/5328	1171/1775	W/L	tGg/tTg		1		-1	STRC	HGNC	HGNC:16035	protein_coding	YES	CCDS10098.1	ENSP00000401513	Q7RTU9		UPI000013E60F	NM_153700.2	tolerated(0.05)		16/29		hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF14																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	43609321	43609321	C	A	1	0	0	0	0	1	0	0	0	15709	595	21	2		2	STRC	15	43609321	Missense_Mutation	SNP	C	C3L-00144_TP	875045	43609321	58381868	1358	5637											
MYO5C	0	.	GRCh38	chr15	52237531	52237531	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcctcgtaatttcgcCtgtgagtggctgctttttct	3	18	8	12	2	2	1	0	1	2	0	5	1	2	1	3	1	1	3	3	1	1	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2819G>T	p.Arg940Met	p.R940M	ENST00000261839	22/41	185	132	53	215	215	0	strelka-varscan-mutect	MYO5C,missense_variant,p.Arg940Met,ENST00000261839,NM_018728.3;MYO5C,3_prime_UTR_variant,,ENST00000560809,;MYO5C,3_prime_UTR_variant,,ENST00000558902,;MYO5C,non_coding_transcript_exon_variant,,ENST00000559434,;	A	ENST00000261839	Transcript	missense_variant	2981/6971	2819/5229	940/1742	R/M	aGg/aTg		1		-1	MYO5C	HGNC	HGNC:7604	protein_coding	YES	CCDS42036.1	ENSP00000261839	Q9NQX4		UPI000013D20E	NM_018728.3	deleterious(0.02)		22/41		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	52237531	52237531	C	A	1	0	0	0	0	1	0	0	0	10081	681	24	2		2	MYO5C	15	52237531	Missense_Mutation	SNP	C	C3L-00144_TP	8628210	52237531	49753658	1359	5638											
UNC13C	0	.	GRCh38	chr15	54321976	54321976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctaaatacatgtgccccGgtgtccctgccgtcatgagc	7	11	9	14	2	2	1	1	1	1	0	3	1	3	1	4	1	4	0	4	1	3	3	rs780996626		C3L-00144_TP	C3L-00144_NB	G	G																c.4306G>T	p.Gly1436Cys	p.G1436C	ENST00000260323	13/32	374	264	110	331	331	0	strelka-varscan-mutect	UNC13C,missense_variant,p.Gly1436Cys,ENST00000260323,NM_001080534.1;UNC13C,non_coding_transcript_exon_variant,,ENST00000561210,;HNRNPA1P74,upstream_gene_variant,,ENST00000560782,;	T	ENST00000260323	Transcript	missense_variant	4306/12946	4306/6645	1436/2214	G/C	Ggt/Tgt	rs780996626	1		1	UNC13C	HGNC	HGNC:23149	protein_coding	YES	CCDS45264.1	ENSP00000260323	Q8NB66		UPI0000DD82AB	NM_001080534.1	deleterious_low_confidence(0)		13/32		hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2																	MODERATE	1	SNV	5			1										PASS		rs780996626	.												T	3	4	12	54321976	54321976	G	T	1	0	0	0	0	1	0	0	0	17510	1116	39	1		1	UNC13C	15	54321976	Missense_Mutation	SNP	G	C3L-00144_TP	2084445	54321976	47669213	1360	5639											
ISLR2	0	.	GRCh38	chr15	74133106	74133106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccagctttccgtggagcGacctgcgcaacctgagcgcg	7	8	12	14	5	0	1	0	1	0	0	2	3	2	2	4	1	5	2	4	1	2	2			C3L-00144_TP	C3L-00144_NB	G	G																c.352G>T	p.Asp118Tyr	p.D118Y	ENST00000361742	4/4	154	115	39	188	188	0	strelka-varscan-mutect	ISLR2,missense_variant,p.Asp118Tyr,ENST00000361742,NM_001130136.1;ISLR2,missense_variant,p.Asp118Tyr,ENST00000435464,NM_001130138.1;ISLR2,missense_variant,p.Asp118Tyr,ENST00000565159,NM_001130137.1;ISLR2,missense_variant,p.Asp118Tyr,ENST00000453268,NM_020851.2;ISLR2,missense_variant,p.Asp118Tyr,ENST00000565540,;ISLR2,missense_variant,p.Asp118Tyr,ENST00000419208,;ISLR2,missense_variant,p.Asp118Tyr,ENST00000561740,;ISLR2,downstream_gene_variant,,ENST00000569886,;ISLR2,downstream_gene_variant,,ENST00000567206,;ISLR2,downstream_gene_variant,,ENST00000565332,;RP11-247C2.2,upstream_gene_variant,,ENST00000563727,;RP11-247C2.2,upstream_gene_variant,,ENST00000514871,;ISLR2,intron_variant,,ENST00000561975,;ISLR2,downstream_gene_variant,,ENST00000565068,;	T	ENST00000361742	Transcript	missense_variant	1121/4817	352/2238	118/745	D/Y	Gac/Tac	COSM964762	1		1	ISLR2	HGNC	HGNC:29286	protein_coding	YES	CCDS10259.1	ENSP00000355402	Q6UXK2		UPI000004C60F	NM_001130136.1	deleterious(0)		4/4		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF15,SMART_domains:SM00369,Superfamily_domains:SSF52058											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	12	74133106	74133106	G	T	1	0	0	0	0	1	0	0	0	7766	1058	37	1		1	ISLR2	15	74133106	Missense_Mutation	SNP	G	C3L-00144_TP	19811130	74133106	27858083	1361	5640											
LINGO1	0	.	GRCh38	chr15	77614710	77614710	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttgccctggacaaactcGggcgtggcgcacgtgggctg	5	8	15	13	4	0	0	0	0	0	0	2	1	1	1	2	4	2	2	2	4	1	1	rs573844311		C3L-00144_TP	C3L-00144_NB	G	G																c.1197C>A	p.=	p.P399P	ENST00000355300	2/2	298	213	85	276	275	1	strelka-varscan-mutect	LINGO1,synonymous_variant,p.=,ENST00000355300,NM_032808.6;LINGO1,synonymous_variant,p.=,ENST00000561030,NM_001301199.1,NM_001301194.1,NM_001301191.1,NM_001301197.1,NM_001301200.1,NM_001301187.1,NM_001301189.1,NM_001301186.1,NM_001301195.1,NM_001301198.1,NM_001301192.1;LINGO1,downstream_gene_variant,,ENST00000557798,;LINGO1,downstream_gene_variant,,ENST00000561686,;LINGO1,downstream_gene_variant,,ENST00000566711,;LINGO1,downstream_gene_variant,,ENST00000567726,;LINGO1,downstream_gene_variant,,ENST00000570216,;LINGO1,downstream_gene_variant,,ENST00000562933,;LINGO1,downstream_gene_variant,,ENST00000563316,;LINGO1,downstream_gene_variant,,ENST00000559893,;LINGO1,downstream_gene_variant,,ENST00000564472,;	T	ENST00000355300	Transcript	synonymous_variant	1372/3055	1197/1863	399/620	P	ccC/ccA	rs573844311	1		-1	LINGO1	HGNC	HGNC:21205	protein_coding	YES	CCDS45313.1	ENSP00000347451	Q96FE5		UPI00000377A0	NM_032808.6			2/2		Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF31																	LOW	1	SNV	1			1										PASS		rs573844311	.												T	2	4	12	77614710	77614710	G	T	1	0	0	0	0	0	0	0	1	8735	1103	39	1		1	LINGO1	15	77614710	Silent	SNP	G	C3L-00144_TP	3481604	77614710	24376479	1362	5641											
ANKRD34C	0	.	GRCh38	chr15	79293318	79293318	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactgaattaaggactgatGgaaactctttgttaaaggct	14	12	9	6	0	1	2	0	2	1	0	1	4	1	4	0	3	1	2	0	3	5	3			C3L-00144_TP	C3L-00144_NB	G	G																c.34G>T	p.Gly12Ter	p.G12*	ENST00000421388	1/1	57	44	13	49	49	0	strelka-varscan-mutect	ANKRD34C,stop_gained,p.Gly12Ter,ENST00000421388,NM_001146341.1;	T	ENST00000421388	Transcript	stop_gained	34/4951	34/1608	12/535	G/*	Gga/Tga	COSM4825465	1		1	ANKRD34C	HGNC	HGNC:33888	protein_coding	YES	CCDS53965.1	ENSP00000401089	P0C6C1		UPI0000160A7F	NM_001146341.1			1/1		PROSITE_profiles:PS50297,hmmpanther:PTHR24157,SMART_domains:SM00248,Superfamily_domains:SSF48403											1						HIGH	1	SNV			1	1										PASS		.	.												T	4	4	12	79293318	79293318	G	T	1	0	0	0	0	0	1	0	0	769	1349	47	2		2	ANKRD34C	15	79293318	Nonsense_Mutation	SNP	G	C3L-00144_TP	1678608	79293318	22697871	1363	5642											
ANKRD34C	0	.	GRCh38	chr15	79293604	79293604	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtctccttattactggAgaatggagcagaccccagcc	10	9	11	11	0	1	2	0	0	1	2	2	4	1	3	4	3	3	1	4	3	3	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.320A>T	p.Glu107Val	p.E107V	ENST00000421388	1/1	177	142	35	182	182	0	strelka-varscan-mutect	ANKRD34C,missense_variant,p.Glu107Val,ENST00000421388,NM_001146341.1;	T	ENST00000421388	Transcript	missense_variant	320/4951	320/1608	107/535	E/V	gAg/gTg		1		1	ANKRD34C	HGNC	HGNC:33888	protein_coding	YES	CCDS53965.1	ENSP00000401089	P0C6C1		UPI0000160A7F	NM_001146341.1	tolerated(0.05)		1/1		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24157,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	12	79293604	79293604	A	T	1	0	0	0	0	1	0	0	0	769	304	11	4		4	ANKRD34C	15	79293604	Missense_Mutation	SNP	A	C3L-00144_TP	286	79293604	22697585	1364	5643											
IL16	0	.	GRCh38	chr15	81292963	81292963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatactttaaaagtgacagtGaccctcagaagagtctggaa	16	9	9	7	0	2	4	1	2	1	2	2	5	2	5	1	1	1	0	1	1	6	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1828G>T	p.Asp610Tyr	p.D610Y	ENST00000302987	11/18	180	135	45	163	163	0	strelka-varscan-mutect	IL16,missense_variant,p.Asp610Tyr,ENST00000394660,NM_001172128.1;IL16,missense_variant,p.Asp610Tyr,ENST00000302987,NM_172217.3;IL16,upstream_gene_variant,,ENST00000394652,NM_004513.5;IL16,downstream_gene_variant,,ENST00000559383,;IL16,upstream_gene_variant,,ENST00000560230,;IL16,3_prime_UTR_variant,,ENST00000360547,;IL16,3_prime_UTR_variant,,ENST00000560115,;IL16,downstream_gene_variant,,ENST00000560241,;IL16,upstream_gene_variant,,ENST00000558857,;	T	ENST00000302987	Transcript	missense_variant	1828/3999	1828/3999	610/1332	D/Y	Gac/Tac		1		1	IL16	HGNC	HGNC:5980	protein_coding	YES	CCDS42069.1	ENSP00000302935	Q14005		UPI0000229CE7	NM_172217.3	deleterious(0)		11/18		hmmpanther:PTHR11324:SF2,hmmpanther:PTHR11324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	81292963	81292963	G	T	1	0	0	0	0	1	0	0	0	7541	1290	45	2		2	IL16	15	81292963	Missense_Mutation	SNP	G	C3L-00144_TP	1999359	81292963	20698226	1365	5644											
AGBL1	0	.	GRCh38	chr15	86674413	86674413	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgagtgctgaggaggaCgctctggaccagcacctcca	8	7	13	13	1	1	2	0	2	1	0	2	5	2	5	3	3	3	4	3	3	0	0	rs377271003		C3L-00144_TP	C3L-00144_NB	C	C																c.3198C>G	p.Asp1066Glu	p.D1066E	ENST00000441037	23/25	103	74	29	92	92	0	strelka-varscan-mutect	AGBL1,missense_variant,p.Asp206Glu,ENST00000614907,;AGBL1,missense_variant,p.Asp1066Glu,ENST00000441037,;AGBL1,missense_variant,p.Asp1020Glu,ENST00000635782,NM_152336.2;AGBL1,missense_variant,p.Asp1020Glu,ENST00000421325,;	G	ENST00000441037	Transcript	missense_variant	3198/3551	3198/3339	1066/1112	D/E	gaC/gaG	rs377271003	1		1	AGBL1	Clone_based_vega_gene	HGNC:26504	protein_coding	YES		ENSP00000413001	Q96MI9		UPI000387C1D9		tolerated(0.97)		23/25		hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF5																	MODERATE	1	SNV	5			1										PASS		rs377271003	.												G	3	3	12	86674413	86674413	C	G	1	0	0	0	0	1	0	0	0	451	535	19	4		4	AGBL1	15	86674413	Missense_Mutation	SNP	C	C3L-00144_TP	5381450	86674413	15316776	1366	5645											
ANPEP	0	.	GRCh38	chr15	89792485	89792485	+	Frame_Shift_Del	DEL	A	A	-																															ggttctccatccactgcttgAaaaggccagagaccatctcc																								novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2327delT	p.Phe776SerfsTer66	p.F776Sfs*66	ENST00000300060	17/21	131	92	39	142	142	0	sindel-varindel-pindel	ANPEP,frameshift_variant,p.Phe776SerfsTer66,ENST00000300060,NM_001150.2;ANPEP,non_coding_transcript_exon_variant,,ENST00000558740,;ANPEP,downstream_gene_variant,,ENST00000559761,;	-	ENST00000300060	Transcript	frameshift_variant	2641/3678	2327/2904	776/967	F/X	tTc/tc		1		-1	ANPEP	HGNC	HGNC:500	protein_coding	YES	CCDS10356.1	ENSP00000300060	P15144	A0A024RC61	UPI00001AECCF	NM_001150.2			17/21		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF172,Pfam_domain:PF11838																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	12	89792485	89792485	A	-	1	0	1	0	1	0	0	0	0	817	246	9	0		0	ANPEP	15	89792485	Frame_Shift_Del	DEL	A	C3L-00144_TP	3118072	89792485	12198704	1367	5646											
SYNGR3	0	.	GRCh38	chr16	1992884	1992884	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgctcaccgtgaaggccCtgcagcggttccgcctgggc	4	7	15	15	4	1	1	1	1	0	0	2	1	2	1	4	4	2	3	4	4	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.502C>T	p.=	p.L168L	ENST00000248121	4/4	69	62	7	69	69	0	strelka-varscan-mutect	SYNGR3,missense_variant,p.Pro145Leu,ENST00000563869,;SYNGR3,synonymous_variant,p.=,ENST00000248121,NM_004209.5;SYNGR3,3_prime_UTR_variant,,ENST00000562045,;SYNGR3,intron_variant,,ENST00000618464,;ZNF598,downstream_gene_variant,,ENST00000563630,NM_178167.3;SYNGR3,downstream_gene_variant,,ENST00000568896,;AC005606.14,upstream_gene_variant,,ENST00000565041,;AC005606.15,upstream_gene_variant,,ENST00000567515,;SYNGR3,non_coding_transcript_exon_variant,,ENST00000564642,;ZNF598,downstream_gene_variant,,ENST00000565396,;ZNF598,downstream_gene_variant,,ENST00000562988,;	T	ENST00000248121	Transcript	synonymous_variant	660/2051	502/690	168/229	L	Ctg/Ttg		1		1	SYNGR3	HGNC	HGNC:11501	protein_coding	YES	CCDS10456.1	ENSP00000248121	O43761		UPI0000135B32	NM_004209.5			4/4		PIRSF_domain:PIRSF011282,PROSITE_profiles:PS51225,hmmpanther:PTHR10838,hmmpanther:PTHR10838:SF8,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	1992884	1992884	C	T	1	0	0	0	0	0	0	0	1	15844	680	24	3		3	SYNGR3	16	1992884	Silent	SNP	C	C3L-00144_TP		1992884	88345461	1368	5647											
PKD1	0	.	GRCh38	chr16	2092058	2092058	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcaccccagcagatcCggcgctgaataggcccacgt	8	7	10	16	3	2	2	1	1	1	1	3	2	3	2	4	2	2	3	4	2	2	1	rs780113152		C3L-00144_TP	C3L-00144_NB	C	C																c.11400G>T	p.=	p.P3800P	ENST00000262304	40/46	468	359	109	470	470	0	strelka-varscan-mutect	PKD1,synonymous_variant,p.=,ENST00000262304,NM_001009944.2;PKD1,synonymous_variant,p.=,ENST00000423118,NM_000296.3;TSC2,downstream_gene_variant,,ENST00000219476,NM_000548.3;TSC2,downstream_gene_variant,,ENST00000350773,NM_001114382.1;TSC2,downstream_gene_variant,,ENST00000568454,NM_001318832.1;TSC2,downstream_gene_variant,,ENST00000401874,NM_001077183.1;TSC2,downstream_gene_variant,,ENST00000439673,NM_001318827.1;TSC2,downstream_gene_variant,,ENST00000382538,NM_001318829.1;TSC2,downstream_gene_variant,,ENST00000569110,;MIR1225,upstream_gene_variant,,ENST00000408729,;RP11-304L19.1,intron_variant,,ENST00000570072,;RP11-304L19.1,intron_variant,,ENST00000563284,;RP11-304L19.3,downstream_gene_variant,,ENST00000565937,;PKD1,synonymous_variant,p.=,ENST00000561668,;PKD1,3_prime_UTR_variant,,ENST00000487932,;PKD1,3_prime_UTR_variant,,ENST00000562425,;PKD1,non_coding_transcript_exon_variant,,ENST00000485120,;PKD1,non_coding_transcript_exon_variant,,ENST00000567355,;TSC2,downstream_gene_variant,,ENST00000439117,NM_001318831.1;TSC2,downstream_gene_variant,,ENST00000497886,;TSC2,downstream_gene_variant,,ENST00000569930,;PKD1,upstream_gene_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000472659,;PKD1,upstream_gene_variant,,ENST00000564313,;PKD1,downstream_gene_variant,,ENST00000568796,;	A	ENST00000262304	Transcript	synonymous_variant	11609/14138	11400/12912	3800/4303	P	ccG/ccT	rs780113152	1		-1	PKD1	HGNC	HGNC:9008	protein_coding	YES	CCDS32369.1	ENSP00000262304	P98161		UPI00001B0454	NM_001009944.2			40/46		Pfam_domain:PF08016,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF143																	LOW	1	SNV	1			1										PASS		rs780113152	.												A	2	1	12	2092058	2092058	C	A	1	0	0	0	0	0	0	0	1	12059	639	23	1		1	PKD1	16	2092058	Silent	SNP	C	C3L-00144_TP	99174	2092058	88246287	1369	5648											
PKD1	0	.	GRCh38	chr16	2117929	2117929	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagctccagggcggcaggtgCcgcttccacctgcacgtctg	5	7	14	15	3	1	0	0	0	1	0	3	1	3	0	4	3	3	4	4	3	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1063G>C	p.Ala355Pro	p.A355P	ENST00000262304	5/46	172	130	42	162	162	0	strelka-varscan-mutect	PKD1,missense_variant,p.Ala355Pro,ENST00000262304,NM_001009944.2;PKD1,missense_variant,p.Ala355Pro,ENST00000423118,NM_000296.3;PKD1,missense_variant,p.Ala51Pro,ENST00000488185,;RP11-304L19.2,upstream_gene_variant,,ENST00000562027,;RP11-304L19.4,downstream_gene_variant,,ENST00000568795,;PKD1,non_coding_transcript_exon_variant,,ENST00000570150,;PKD1,upstream_gene_variant,,ENST00000468674,;PKD1,missense_variant,p.Ala11Pro,ENST00000568591,;PKD1,upstream_gene_variant,,ENST00000483731,;PKD1,upstream_gene_variant,,ENST00000415938,;PKD1,upstream_gene_variant,,ENST00000565639,;PKD1,upstream_gene_variant,,ENST00000569983,;	G	ENST00000262304	Transcript	missense_variant	1272/14138	1063/12912	355/4303	A/P	Gca/Cca		1		-1	PKD1	HGNC	HGNC:9008	protein_coding	YES	CCDS32369.1	ENSP00000262304	P98161		UPI00001B0454	NM_001009944.2	tolerated(0.22)		5/46		PROSITE_profiles:PS50093,SMART_domains:SM00089,Superfamily_domains:SSF49299,TIGRFAM_domain:TIGR00864																	MODERATE	1	SNV	1			1										PASS		rs1303352586	.												G	3	3	12	2117929	2117929	C	G	1	0	0	0	0	1	0	0	0	12059	739	26	4		4	PKD1	16	2117929	Missense_Mutation	SNP	C	C3L-00144_TP	25871	2117929	88220416	1370	5649											
E4F1	0	.	GRCh38	chr16	2223689	2223689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgaagccgggcgggaagcgGgcgagggtgcagttgcggcg	6	3	22	10	7	0	0	0	0	0	0	0	3	0	1	2	5	4	2	2	5	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.76G>C	p.Gly26Arg	p.G26R	ENST00000301727	1/14	164	111	53	147	147	0	strelka-varscan-mutect	E4F1,missense_variant,p.Gly26Arg,ENST00000301727,NM_004424.4;E4F1,missense_variant,p.Gly26Arg,ENST00000564139,NM_001288776.1;E4F1,missense_variant,p.Gly26Arg,ENST00000565090,NM_001288778.1;E4F1,upstream_gene_variant,,ENST00000565413,;E4F1,missense_variant,p.Gly26Arg,ENST00000562589,;E4F1,upstream_gene_variant,,ENST00000569796,;	C	ENST00000301727	Transcript	missense_variant	124/2573	76/2355	26/784	G/R	Ggc/Cgc		1		1	E4F1	HGNC	HGNC:3121	protein_coding	YES	CCDS32370.1	ENSP00000301727	Q66K89		UPI00001AED0F	NM_004424.4	deleterious_low_confidence(0.01)		1/14		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF3,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	2223689	2223689	G	C	1	0	0	0	0	1	0	0	0	4698	1232	43	4		4	E4F1	16	2223689	Missense_Mutation	SNP	G	C3L-00144_TP	105760	2223689	88114656	1371	5650											
E4F1	0	.	GRCh38	chr16	2234969	2234969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtggagttctcgtccGtggtagctgacacccaggag	6	11	15	9	2	1	1	0	1	1	0	3	3	2	3	2	4	1	4	2	4	1	3	rs372658146		C3L-00144_TP	C3L-00144_NB	G	G																c.1903G>T	p.Val635Leu	p.V635L	ENST00000301727	12/14	222	189	33	181	181	0	strelka-varscan-mutect	E4F1,missense_variant,p.Val635Leu,ENST00000301727,NM_004424.4;E4F1,missense_variant,p.Val458Leu,ENST00000565090,NM_001288778.1;E4F1,intron_variant,,ENST00000564139,NM_001288776.1;DNASE1L2,upstream_gene_variant,,ENST00000564065,;ECI1,downstream_gene_variant,,ENST00000301729,NM_001919.3;ECI1,downstream_gene_variant,,ENST00000570258,;DNASE1L2,upstream_gene_variant,,ENST00000320700,NM_001374.2;DNASE1L2,upstream_gene_variant,,ENST00000567494,NM_001301680.1;DNASE1L2,upstream_gene_variant,,ENST00000613572,;DNASE1L2,upstream_gene_variant,,ENST00000382437,;ECI1,downstream_gene_variant,,ENST00000562238,NM_001178029.1;E4F1,downstream_gene_variant,,ENST00000565413,;DNASE1L2,upstream_gene_variant,,ENST00000569184,;RP11-304L19.12,downstream_gene_variant,,ENST00000564055,;E4F1,non_coding_transcript_exon_variant,,ENST00000569796,;E4F1,non_coding_transcript_exon_variant,,ENST00000567111,;E4F1,downstream_gene_variant,,ENST00000562589,;E4F1,downstream_gene_variant,,ENST00000563643,;E4F1,downstream_gene_variant,,ENST00000564930,;	T	ENST00000301727	Transcript	missense_variant	1951/2573	1903/2355	635/784	V/L	Gtg/Ttg	rs372658146	1		1	E4F1	HGNC	HGNC:3121	protein_coding	YES	CCDS32370.1	ENSP00000301727	Q66K89		UPI00001AED0F	NM_004424.4	deleterious(0.01)		12/14																			MODERATE	1	SNV	1			1										PASS		rs372658146	.												T	3	4	12	2234969	2234969	G	T	1	0	0	0	0	1	0	0	0	4698	1145	40	1		1	E4F1	16	2234969	Missense_Mutation	SNP	G	C3L-00144_TP	11280	2234969	88103376	1372	5651											
NUDT16L1	0	.	GRCh38	chr16	4694464	4694464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggctgtgttacatccGccttgctgcctgccattgcc	4	12	10	15	1	1	0	1	0	0	0	2	0	2	0	5	1	5	3	5	1	1	3	rs758779340		C3L-00144_TP	C3L-00144_NB	G	G																c.640G>T	p.Ala214Ser	p.A214S	ENST00000405142	2/2	76	67	9	49	49	0	strelka-varscan-mutect	NUDT16L1,missense_variant,p.Ala214Ser,ENST00000405142,;NUDT16L1,intron_variant,,ENST00000586536,NM_001193452.1;NUDT16L1,intron_variant,,ENST00000304301,NM_032349.3;NUDT16L1,intron_variant,,ENST00000586252,;NUDT16L1,intron_variant,,ENST00000590460,;MGRN1,downstream_gene_variant,,ENST00000399577,NM_001142290.2;MGRN1,downstream_gene_variant,,ENST00000415496,NM_001142291.2;MGRN1,downstream_gene_variant,,ENST00000262370,NM_015246.3;ANKS3,downstream_gene_variant,,ENST00000304283,NM_133450.3;ANKS3,downstream_gene_variant,,ENST00000614075,;ANKS3,downstream_gene_variant,,ENST00000450067,NM_001242929.1;ANKS3,downstream_gene_variant,,ENST00000446014,NM_001308089.1;ANKS3,downstream_gene_variant,,ENST00000585773,;ANKS3,downstream_gene_variant,,ENST00000588513,;ANKS3,downstream_gene_variant,,ENST00000591653,;ANKS3,downstream_gene_variant,,ENST00000590803,;ANKS3,downstream_gene_variant,,ENST00000592077,;ANKS3,downstream_gene_variant,,ENST00000590193,;ANKS3,downstream_gene_variant,,ENST00000589035,;ANKS3,downstream_gene_variant,,ENST00000591185,;ANKS3,downstream_gene_variant,,ENST00000588398,;	T	ENST00000405142	Transcript	missense_variant	649/2040	640/744	214/247	A/S	Gcc/Tcc	rs758779340	1		1	NUDT16L1	HGNC	HGNC:28154	protein_coding			ENSP00000458144	Q9BRJ7		UPI000006F550		deleterious_low_confidence(0.03)		2/2																			MODERATE		SNV	1			1										PASS		rs758779340	.												T	3	4	12	4694464	4694464	G	T	1	0	0	0	0	1	0	0	0	10797	1087	38	1		1	NUDT16L1	16	4694464	Missense_Mutation	SNP	G	C3L-00144_TP	2459495	4694464	85643881	1373	5652											
ZNF500	0	.	GRCh38	chr16	4752536	4752536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacctgtgtgcgtccggCggtgggcgctgaagtgcgag	4	9	17	11	5	1	1	1	1	1	0	3	2	2	1	2	3	2	1	2	3	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1283G>T	p.Arg428Leu	p.R428L	ENST00000219478	6/6	161	142	19	125	125	0	strelka-varscan-mutect	ZNF500,missense_variant,p.Arg428Leu,ENST00000219478,NM_021646.2;ZNF500,missense_variant,p.Arg428Leu,ENST00000545009,NM_001303450.1;ZNF500,missense_variant,p.Ala33Ser,ENST00000588942,;C16orf71,downstream_gene_variant,,ENST00000299320,NM_139170.2;C16orf71,downstream_gene_variant,,ENST00000590191,;ZNF500,downstream_gene_variant,,ENST00000592425,;Metazoa_SRP,upstream_gene_variant,,ENST00000622471,;ZNF500,non_coding_transcript_exon_variant,,ENST00000591026,;RP11-127I20.7,non_coding_transcript_exon_variant,,ENST00000588099,;ZNF500,3_prime_UTR_variant,,ENST00000589422,;C16orf71,downstream_gene_variant,,ENST00000586256,;	A	ENST00000219478	Transcript	missense_variant	1583/5880	1283/1443	428/480	R/L	cGc/cTc		1		-1	ZNF500	HGNC	HGNC:23716	protein_coding	YES	CCDS32383.1	ENSP00000219478	O60304		UPI00001C1FB0	NM_021646.2	deleterious(0.01)		6/6		Gene3D:3.30.160.60,Pfam_domain:PF13894,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF74,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE		SNV	2			1										PASS		rs1280452143	.												A	3	1	12	4752536	4752536	C	A	1	0	0	0	0	1	0	0	0	18520	768	27	1		1	ZNF500	16	4752536	Missense_Mutation	SNP	C	C3L-00144_TP	58072	4752536	85585809	1374	5653											
USP7	0	.	GRCh38	chr16	8900566	8900566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaccatccattagttcaTcaagggctttatcaagagac	12	12	7	10	0	4	1	4	0	0	1	5	2	5	1	2	1	0	2	2	1	4	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2273A>G	p.Asp758Gly	p.D758G	ENST00000344836	21/31	169	123	46	145	145	0	strelka-varscan-mutect	USP7,missense_variant,p.Asp758Gly,ENST00000344836,NM_001321858.1,NM_003470.2;USP7,missense_variant,p.Asp742Gly,ENST00000381886,NM_001286458.1,NM_001286457.1;USP7,missense_variant,p.Asp659Gly,ENST00000563085,;USP7,3_prime_UTR_variant,,ENST00000563961,;USP7,3_prime_UTR_variant,,ENST00000565455,;USP7,3_prime_UTR_variant,,ENST00000567692,;USP7,non_coding_transcript_exon_variant,,ENST00000569448,;USP7,non_coding_transcript_exon_variant,,ENST00000566131,;USP7,intron_variant,,ENST00000563043,;USP7,downstream_gene_variant,,ENST00000542333,;USP7,downstream_gene_variant,,ENST00000570256,;USP7,upstream_gene_variant,,ENST00000562051,;USP7,downstream_gene_variant,,ENST00000567329,;USP7,upstream_gene_variant,,ENST00000565883,;USP7,upstream_gene_variant,,ENST00000567113,;USP7,upstream_gene_variant,,ENST00000562615,;	C	ENST00000344836	Transcript	missense_variant	2472/5412	2273/3309	758/1102	D/G	gAt/gGt		1		-1	USP7	HGNC	HGNC:12630	protein_coding	YES	CCDS32385.1	ENSP00000343535	Q93009		UPI000013F0BE	NM_001321858.1,NM_003470.2	tolerated(0.3)		21/31		Pfam_domain:PF12436																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	8900566	8900566	T	C	1	0	0	0	0	1	0	0	0	17631	1435	50	5		5	USP7	16	8900566	Missense_Mutation	SNP	T	C3L-00144_TP	4148030	8900566	81437779	1375	5654											
USP7	0	.	GRCh38	chr16	8904482	8904482	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccgctccttccgcttctGagcctcgatccttttctctt	2	16	6	17	3	2	1	0	1	2	0	7	2	5	1	5	0	2	2	5	0	0	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1657C>T	p.Gln553Ter	p.Q553*	ENST00000344836	15/31	160	151	9	116	116	0	strelka-varscan-mutect	USP7,stop_gained,p.Gln553Ter,ENST00000344836,NM_001321858.1,NM_003470.2;USP7,stop_gained,p.Gln537Ter,ENST00000381886,NM_001286458.1,NM_001286457.1;USP7,stop_gained,p.Gln454Ter,ENST00000563085,;USP7,missense_variant,p.Ser481Leu,ENST00000542333,;USP7,3_prime_UTR_variant,,ENST00000563961,;USP7,3_prime_UTR_variant,,ENST00000565455,;USP7,non_coding_transcript_exon_variant,,ENST00000570256,;USP7,non_coding_transcript_exon_variant,,ENST00000567329,;USP7,upstream_gene_variant,,ENST00000569448,;USP7,upstream_gene_variant,,ENST00000566131,;USP7,upstream_gene_variant,,ENST00000562051,;USP7,upstream_gene_variant,,ENST00000563043,;USP7,upstream_gene_variant,,ENST00000567692,;	A	ENST00000344836	Transcript	stop_gained	1856/5412	1657/3309	553/1102	Q/*	Cag/Tag		1		-1	USP7	HGNC	HGNC:12630	protein_coding	YES	CCDS32385.1	ENSP00000343535	Q93009		UPI000013F0BE	NM_001321858.1,NM_003470.2			15/31		Coiled-coils_(Ncoils):Coil																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	8904482	8904482	G	A	1	0	0	0	0	0	1	0	0	17631	1299	45	3		3	USP7	16	8904482	Nonsense_Mutation	SNP	G	C3L-00144_TP	3916	8904482	81433863	1376	5655											
CPPED1	0	.	GRCh38	chr16	12664985	12664985	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattttctcggcggtgacCaccacgactcggagcccgtg	8	8	11	14	5	1	1	0	1	1	0	3	3	1	2	3	3	1	0	3	3	1	2			C3L-00144_TP	C3L-00144_NB	C	C																c.846G>C	p.=	p.V282V	ENST00000381774	4/4	143	99	44	155	155	0	strelka-varscan-mutect	CPPED1,missense_variant,p.Gly109Arg,ENST00000261660,;CPPED1,synonymous_variant,p.=,ENST00000381774,NM_018340.2;CPPED1,synonymous_variant,p.=,ENST00000433677,NM_001099455.1;	G	ENST00000381774	Transcript	synonymous_variant	1087/6273	846/945	282/314	V	gtG/gtC	COSM365070	1		-1	CPPED1	HGNC	HGNC:25632	protein_coding	YES	CCDS42120.1	ENSP00000371193	Q9BRF8		UPI000013D1D1	NM_018340.2			4/4		hmmpanther:PTHR22953,hmmpanther:PTHR22953:SF34,Gene3D:3.60.21.10,Superfamily_domains:SSF56300											1						LOW	1	SNV	1		1	1										PASS		.	.												G	2	3	12	12664985	12664985	C	G	1	0	0	0	0	0	0	0	1	3617	594	21	4		4	CPPED1	16	12664985	Silent	SNP	C	C3L-00144_TP	3760503	12664985	77673360	1377	5656											
NPIPB4	0	.	GRCh38	chr16	21836439	21836439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatcttgatattatcatctGctgagggtggagctgagggt	8	14	14	5	0	3	3	1	3	2	0	3	4	3	4	0	3	2	3	0	3	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1948C>A	p.Gln650Lys	p.Q650K	ENST00000415645	7/9	264	248	16	239	239	0	varscan-mutect	NPIPB4,missense_variant,p.Gln650Lys,ENST00000415645,NM_130464.2;NPIPB4,intron_variant,,ENST00000537951,;NPIPB4,downstream_gene_variant,,ENST00000614197,;NPIPB4,downstream_gene_variant,,ENST00000165086,;NPIPB4,downstream_gene_variant,,ENST00000541329,;NPIPB4,downstream_gene_variant,,ENST00000542133,;NPIPB4,downstream_gene_variant,,ENST00000545367,;NPIPB4,downstream_gene_variant,,ENST00000543660,;RP11-645C24.6,downstream_gene_variant,,ENST00000622730,;	T	ENST00000415645	Transcript	missense_variant	1988/3606	1948/3417	650/1138	Q/K	Cag/Aag		1		-1	NPIPB4	HGNC	HGNC:41985	protein_coding	YES		ENSP00000404439	C9JG80		UPI00020651A0	NM_130464.2			7/9		hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF0																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	21836439	21836439	G	T	1	0	0	0	0	1	0	0	0	10638	1328	46	2		2	NPIPB4	16	21836439	Missense_Mutation	SNP	G	C3L-00144_TP	9171454	21836439	68501906	1378	5657											
PDZD9	0	.	GRCh38	chr16	21984355	21984355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctgaggtagaggaggtaGaggaggaagagctttcattg	12	9	16	4	0	2	4	1	1	1	3	2	7	2	7	0	5	1	3	0	5	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.527C>G	p.Ser176Cys	p.S176C	ENST00000537222	3/3	269	228	41	205	205	0	strelka-mutect	PDZD9,missense_variant,p.Ser236Cys,ENST00000424898,;PDZD9,missense_variant,p.Ser176Cys,ENST00000537222,NM_173806.3;UQCRC2,downstream_gene_variant,,ENST00000268379,NM_003366.2;UQCRC2,downstream_gene_variant,,ENST00000561553,;PDZD9,3_prime_UTR_variant,,ENST00000523914,;UQCRC2,downstream_gene_variant,,ENST00000563898,;UQCRC2,downstream_gene_variant,,ENST00000561798,;	C	ENST00000537222	Transcript	missense_variant	578/1068	527/615	176/204	S/C	tCt/tGt		1		-1	PDZD9	HGNC	HGNC:28740	protein_coding	YES	CCDS10602.2	ENSP00000441685	Q8IXQ8		UPI0000E24140	NM_173806.3	deleterious(0.03)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22698																	MODERATE		SNV	3			1										PASS		rs1293350658	.												C	3	2	12	21984355	21984355	G	C	1	0	0	0	0	1	0	0	0	11794	942	33	4		4	PDZD9	16	21984355	Missense_Mutation	SNP	G	C3L-00144_TP	147916	21984355	68353990	1379	5658											
PALB2	0	.	GRCh38	chr16	23636137	23636137	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttctgcttttgctcacCactagggtcactgaccctgt	6	13	8	14	0	3	1	2	1	1	0	3	1	3	1	2	1	3	3	2	1	1	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.409G>T	p.Gly137Cys	p.G137C	ENST00000261584	4/13	138	110	28	94	93	1	strelka-varscan-mutect	PALB2,missense_variant,p.Gly137Cys,ENST00000261584,NM_024675.3;PALB2,5_prime_UTR_variant,,ENST00000568219,;PALB2,downstream_gene_variant,,ENST00000561514,;PALB2,non_coding_transcript_exon_variant,,ENST00000567003,;PALB2,intron_variant,,ENST00000565038,;	A	ENST00000261584	Transcript	missense_variant	562/4003	409/3561	137/1186	G/C	Ggt/Tgt		1		-1	PALB2	HGNC	HGNC:26144	protein_coding	YES	CCDS32406.1	ENSP00000261584	Q86YC2		UPI000000DA86	NM_024675.3	deleterious(0.03)		4/13		hmmpanther:PTHR14662,hmmpanther:PTHR14662:SF2																	MODERATE	1	SNV	1			1										PASS		rs1397816581	.												A	3	1	12	23636137	23636137	C	A	1	0	0	0	0	1	0	0	0	11485	594	21	2		2	PALB2	16	23636137	Missense_Mutation	SNP	C	C3L-00144_TP	1651782	23636137	66702208	1380	5659											
CHP2	0	.	GRCh38	chr16	23757320	23757320	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccttcgtggagttcacCaaggtcagagtgcccttggg	6	11	14	10	1	2	1	2	0	0	1	4	2	3	2	3	3	1	1	3	3	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.534C>A	p.=	p.T178T	ENST00000300113	6/7	87	81	6	70	70	0	strelka-varscan-mutect	CHP2,synonymous_variant,p.=,ENST00000300113,NM_022097.3;CTD-2385L22.2,upstream_gene_variant,,ENST00000623305,;	A	ENST00000300113	Transcript	synonymous_variant	957/2382	534/591	178/196	T	acC/acA		1		1	CHP2	HGNC	HGNC:24927	protein_coding	YES	CCDS10617.1	ENSP00000300113	O43745		UPI000013E626	NM_022097.3			6/7		PROSITE_profiles:PS50222,hmmpanther:PTHR23056,hmmpanther:PTHR23056:SF49,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	23757320	23757320	C	A	1	0	0	0	0	0	0	0	1	3127	608	21	2		2	CHP2	16	23757320	Silent	SNP	C	C3L-00144_TP	121183	23757320	66581025	1381	5660											
PRKCB	0	.	GRCh38	chr16	24214718	24214718	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatccaccagtcctaacaCctcccgaccaggaagtcatc	11	6	6	18	1	1	0	1	0	0	0	5	2	4	1	7	1	1	0	7	1	2	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1924C>A	p.Pro642Thr	p.P642T	ENST00000303531	17/17	279	252	27	225	225	0	strelka-varscan-mutect	PRKCB,missense_variant,p.Pro642Thr,ENST00000303531,NM_002738.6;PRKCB,intron_variant,,ENST00000321728,NM_212535.2;	A	ENST00000303531	Transcript	missense_variant	2076/7969	1924/2022	642/673	P/T	Cct/Act		1		1	PRKCB	HGNC	HGNC:9395	protein_coding	YES	CCDS10619.1	ENSP00000305355	P05771		UPI000002ACF9	NM_002738.6	deleterious(0)		17/17		Pfam_domain:PF00433,PIRSF_domain:PIRSF000550,PROSITE_profiles:PS51285,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF188,SMART_domains:SM00133,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	24214718	24214718	C	A	1	0	0	0	0	1	0	0	0	12641	507	18	2		2	PRKCB	16	24214718	Missense_Mutation	SNP	C	C3L-00144_TP	457398	24214718	66123627	1382	5661											
HS3ST4	0	.	GRCh38	chr16	25692752	25692752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgagccacggggagccgcCcgagcccccagagcagccag	8	0	15	18	5	0	1	0	0	0	1	0	4	0	2	6	2	5	1	6	2	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.335C>G	p.Pro112Arg	p.P112R	ENST00000331351	1/2	34	28	6	29	29	0	strelka-mutect	HS3ST4,missense_variant,p.Pro112Arg,ENST00000331351,NM_006040.2;	G	ENST00000331351	Transcript	missense_variant	727/3203	335/1371	112/456	P/R	cCc/cGc		1		1	HS3ST4	HGNC	HGNC:5200	protein_coding	YES	CCDS53995.1	ENSP00000330606	Q9Y661		UPI000040938A	NM_006040.2	tolerated_low_confidence(0.37)		1/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1385567443	.												G	3	3	12	25692752	25692752	C	G	1	0	0	0	0	1	0	0	0	7261	623	22	4		4	HS3ST4	16	25692752	Missense_Mutation	SNP	C	C3L-00144_TP	1478034	25692752	64645593	1383	5662											
HS3ST4	0	.	GRCh38	chr16	26136229	26136229	+	Missense_Mutation	SNP	A	A	C																															tcaagattttcagtgggaacAggaagagggtgataaatgag																								novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1352A>C	p.Gln451Pro	p.Q451P	ENST00000331351	2/2	123	113	10	116	116	0	strelka-varscan-mutect	HS3ST4,missense_variant,p.Gln451Pro,ENST00000331351,NM_006040.2;HS3ST4,downstream_gene_variant,,ENST00000475436,;	C	ENST00000331351	Transcript	missense_variant	1744/3203	1352/1371	451/456	Q/P	cAg/cCg		1		1	HS3ST4	HGNC	HGNC:5200	protein_coding	YES	CCDS53995.1	ENSP00000330606	Q9Y661		UPI000040938A	NM_006040.2	tolerated_low_confidence(0.07)		2/2		hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF11,Gene3D:3.40.50.300																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	26136229	26136229	A	C	1	0	0	0	0	1	0	0	0	7261	188	7	5		5	HS3ST4	16	26136229	Missense_Mutation	SNP	A	C3L-00144_TP	443477	26136229	64202116	1384	5663	129	2									
HS3ST4	0	.	GRCh38	chr16	26136230	26136230	+	Silent	SNP	G	G	A																															caagattttcagtgggaacaGgaagagggtgataaatgagg																										C3L-00144_TP	C3L-00144_NB	G	G																c.1353G>A	p.=	p.Q451Q	ENST00000331351	2/2	120	110	10	112	112	0	strelka-varscan-mutect	HS3ST4,synonymous_variant,p.=,ENST00000331351,NM_006040.2;HS3ST4,downstream_gene_variant,,ENST00000475436,;	A	ENST00000331351	Transcript	synonymous_variant	1745/3203	1353/1371	451/456	Q	caG/caA	COSM3508158,COSM3508159	1		1	HS3ST4	HGNC	HGNC:5200	protein_coding	YES	CCDS53995.1	ENSP00000330606	Q9Y661		UPI000040938A	NM_006040.2			2/2		hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF11,Gene3D:3.40.50.300											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	12	26136230	26136230	G	A	1	0	0	0	0	0	0	0	1	7261	991	35	3		3	HS3ST4	16	26136230	Silent	SNP	G	C3L-00144_TP	1	26136230	64202115	1385	5664	129	2									
GTF3C1	0	.	GRCh38	chr16	27483126	27483126	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctcggccaggcacactCtgcaggaagaggagacaaag	14	3	12	12	1	1	2	0	0	1	2	2	4	1	3	2	4	1	2	2	4	2	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.4002-1G>T		p.X1334_splice	ENST00000356183		203	164	39	142	142	0	strelka-varscan-mutect	GTF3C1,splice_acceptor_variant,,ENST00000356183,NM_001520.3;GTF3C1,splice_acceptor_variant,,ENST00000561623,NM_001286242.1;GTF3C1,splice_acceptor_variant,,ENST00000568569,;GTF3C1,intron_variant,,ENST00000569653,;GTF3C1,downstream_gene_variant,,ENST00000570129,;GTF3C1,splice_acceptor_variant,,ENST00000566779,;GTF3C1,intron_variant,,ENST00000564664,;GTF3C1,upstream_gene_variant,,ENST00000569394,;	A	ENST00000356183	Transcript	splice_acceptor_variant	-/7018	4002/6330	1334/2109				1		-1	GTF3C1	HGNC	HGNC:4664	protein_coding	YES	CCDS32414.1	ENSP00000348510	Q12789		UPI00001FF123	NM_001520.3				25/36																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	12	27483126	27483126	C	A	1	0	0	0	0	0	0	1	0	6753	927	32	2		2	GTF3C1	16	27483126	Splice_Site	SNP	C	C3L-00144_TP	1346896	27483126	62855219	1386	5665											
GTF3C1	0	.	GRCh38	chr16	27492405	27492405	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacatcctgcattgagttCaggacatagaggcgcctctc	9	10	9	13	1	2	2	1	1	1	1	5	3	4	3	3	2	1	2	3	2	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3084G>T	p.=	p.L1028L	ENST00000356183	19/37	187	171	16	160	160	0	strelka-varscan-mutect	GTF3C1,synonymous_variant,p.=,ENST00000356183,NM_001520.3;GTF3C1,synonymous_variant,p.=,ENST00000561623,NM_001286242.1;GTF3C1,intron_variant,,ENST00000569653,;GTF3C1,upstream_gene_variant,,ENST00000568569,;GTF3C1,upstream_gene_variant,,ENST00000564664,;	A	ENST00000356183	Transcript	synonymous_variant	3100/7018	3084/6330	1028/2109	L	ctG/ctT		1		-1	GTF3C1	HGNC	HGNC:4664	protein_coding	YES	CCDS32414.1	ENSP00000348510	Q12789		UPI00001FF123	NM_001520.3			19/37		hmmpanther:PTHR15180,hmmpanther:PTHR15180:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	27492405	27492405	C	A	1	0	0	0	0	0	0	0	1	6753	813	29	2		2	GTF3C1	16	27492405	Silent	SNP	C	C3L-00144_TP	9279	27492405	62845940	1387	5666											
KIAA0556	0	.	GRCh38	chr16	27761440	27761440	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatttcactgcctcctGgggagacttgcactacctgg	7	11	11	12	0	1	2	1	1	0	1	2	3	2	2	3	3	3	2	3	3	2	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3659G>A	p.Trp1220Ter	p.W1220*	ENST00000261588	19/28	105	85	20	90	90	0	strelka-varscan-mutect	KIAA0556,stop_gained,p.Trp1220Ter,ENST00000261588,NM_015202.2;	A	ENST00000261588	Transcript	stop_gained	3678/6616	3659/4857	1220/1618	W/*	tGg/tAg		1		1	KIAA0556	HGNC	HGNC:29068	protein_coding	YES	CCDS32415.1	ENSP00000261588	O60303		UPI000045693C	NM_015202.2			19/28		hmmpanther:PTHR21534:SF0,hmmpanther:PTHR21534,Pfam_domain:PF14652																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	27761440	27761440	G	A	1	0	0	0	0	0	1	0	0	8088	1357	47	3		3	KIAA0556	16	27761440	Nonsense_Mutation	SNP	G	C3L-00144_TP	269035	27761440	62576905	1388	5667											
IL27	0	.	GRCh38	chr16	28499717	28499717	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagccttggacagcagCagcaactcccgcacggcccg	8	4	11	18	3	0	0	0	0	0	0	1	1	1	1	4	2	6	4	4	2	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.666G>T	p.=	p.L222L	ENST00000356897	5/5	273	211	62	277	275	2	strelka-varscan-mutect	IL27,synonymous_variant,p.=,ENST00000356897,NM_145659.3;CLN3,upstream_gene_variant,,ENST00000569430,;APOBR,downstream_gene_variant,,ENST00000564831,NM_018690.3;APOBR,downstream_gene_variant,,ENST00000431282,;IL27,downstream_gene_variant,,ENST00000568075,;CLN3,upstream_gene_variant,,ENST00000636355,;CLN3,upstream_gene_variant,,ENST00000567160,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000637110,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000637686,;	A	ENST00000356897	Transcript	synonymous_variant	689/1044	666/732	222/243	L	ctG/ctT		1		-1	IL27	HGNC	HGNC:19157	protein_coding	YES	CCDS10633.1	ENSP00000349365	Q8NEV9		UPI0000141330	NM_145659.3			5/5		hmmpanther:PTHR20879,hmmpanther:PTHR20879:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	28499717	28499717	C	A	1	0	0	0	0	0	0	0	1	7583	697	25	2		2	IL27	16	28499717	Silent	SNP	C	C3L-00144_TP	738277	28499717	61838628	1389	5668											
CD19	0	.	GRCh38	chr16	28937291	28937291	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccagaagaagaggaagggGagggctatgaggaacctgac	14	3	17	7	0	0	5	0	2	0	3	0	8	0	8	2	5	1	1	2	5	5	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1219G>T	p.Glu407Ter	p.E407*	ENST00000538922	9/15	262	195	67	271	271	0	strelka-varscan-mutect	CD19,stop_gained,p.Glu407Ter,ENST00000538922,NM_001178098.1;CD19,stop_gained,p.Glu407Ter,ENST00000324662,NM_001770.5;CD19,stop_gained,p.Glu407Ter,ENST00000567541,;RABEP2,upstream_gene_variant,,ENST00000566762,;CD19,non_coding_transcript_exon_variant,,ENST00000565089,;CD19,non_coding_transcript_exon_variant,,ENST00000567368,;CD19,downstream_gene_variant,,ENST00000566890,;	T	ENST00000538922	Transcript	stop_gained	1281/1957	1219/1674	407/557	E/*	Gag/Tag		1		1	CD19	HGNC	HGNC:1633	protein_coding	YES	CCDS53998.1	ENSP00000437940	P15391		UPI0000E02929	NM_001178098.1			9/15		hmmpanther:PTHR16674,hmmpanther:PTHR16674:SF2,Low_complexity_(Seg):seg																	HIGH	1	SNV	5			1										PASS		rs886948983	.												T	4	4	12	28937291	28937291	G	T	1	0	0	0	0	0	1	0	0	2676	1175	41	2		2	CD19	16	28937291	Nonsense_Mutation	SNP	G	C3L-00144_TP	437574	28937291	61401054	1390	5669											
C16orf54	0	.	GRCh38	chr16	29744466	29744466	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcaccaggcctgtggcGgggggcctcccctcccaggg	4	5	15	17	1	1	0	1	0	0	0	3	0	3	0	6	6	1	1	6	6	0	0	rs551608693,rs779355314		C3L-00144_TP	C3L-00144_NB	G	G																c.486C>A	p.=	p.P162P	ENST00000329410	2/2	135	118	17	146	146	0	strelka-varscan-mutect	C16orf54,synonymous_variant,p.=,ENST00000329410,NM_175900.3;AC009133.17,upstream_gene_variant,,ENST00000565600,;	T	ENST00000329410	Transcript	synonymous_variant	582/2585	486/675	162/224	P	ccC/ccA	rs551608693,rs779355314	1		-1	C16orf54	HGNC	HGNC:26649	protein_coding	YES	CCDS10652.1	ENSP00000327506	Q6UWD8		UPI0000141B48	NM_175900.3			2/2		hmmpanther:PTHR36134,Pfam_domain:PF15755																	LOW	1	SNV	1			1										PASS		rs551608693	.												T	2	4	12	29744466	29744466	G	T	1	0	0	0	0	0	0	0	1	1858	1103	39	1		1	C16orf54	16	29744466	Silent	SNP	G	C3L-00144_TP	807175	29744466	60593879	1391	5670											
ZNF689	0	.	GRCh38	chr16	30604715	30604715	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctgggagaagcgggccTcacagtgctcgcaggcatag	8	6	16	11	3	1	1	1	0	0	1	2	2	1	1	1	3	3	4	1	3	2	1	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1052A>T	p.Glu351Val	p.E351V	ENST00000287461	3/3	100	91	9	91	91	0	strelka-varscan-mutect	ZNF689,missense_variant,p.Glu351Val,ENST00000287461,NM_138447.2;RP11-146F11.5,intron_variant,,ENST00000563540,;ZNF689,non_coding_transcript_exon_variant,,ENST00000566673,;ZNF689,non_coding_transcript_exon_variant,,ENST00000563304,;ZNF689,non_coding_transcript_exon_variant,,ENST00000565440,;ZNF689,downstream_gene_variant,,ENST00000564262,;ZNF689,downstream_gene_variant,,ENST00000565710,;	A	ENST00000287461	Transcript	missense_variant	1390/3547	1052/1503	351/500	E/V	gAg/gTg		1		-1	ZNF689	HGNC	HGNC:25173	protein_coding	YES	CCDS10686.1	ENSP00000287461	Q96CS4		UPI000006CDAD	NM_138447.2	deleterious(0.01)		3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF23,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	30604715	30604715	T	A	1	0	0	0	0	1	0	0	0	18667	1551	54	4		4	ZNF689	16	30604715	Missense_Mutation	SNP	T	C3L-00144_TP	860249	30604715	59733630	1392	5671											
PRSS36	0	.	GRCh38	chr16	31143345	31143345	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagattttcactcactccAgaaagcagctggcaggtgcc	10	9	10	12	1	2	2	2	0	0	2	3	2	3	2	2	2	3	4	2	2	2	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1097T>G	p.Leu366Arg	p.L366R	ENST00000268281	8/15	69	47	22	83	83	0	strelka-varscan-mutect	PRSS36,missense_variant,p.Leu366Arg,ENST00000268281,NM_173502.4;PRSS36,missense_variant,p.Leu366Arg,ENST00000569305,NM_001258290.1;PRSS36,missense_variant,p.Leu366Arg,ENST00000418068,NM_001258291.1;PRSS36,non_coding_transcript_exon_variant,,ENST00000562368,;PRSS36,upstream_gene_variant,,ENST00000563693,;PRSS36,upstream_gene_variant,,ENST00000571878,;	C	ENST00000268281	Transcript	missense_variant	1156/2840	1097/2568	366/855	L/R	cTg/cGg		1		-1	PRSS36	HGNC	HGNC:26906	protein_coding	YES	CCDS32436.1	ENSP00000268281	Q5K4E3		UPI00001FFF6A	NM_173502.4	tolerated(0.07)		8/15		PROSITE_profiles:PS50240,hmmpanther:PTHR24276,hmmpanther:PTHR24276:SF62,Gene3D:2.40.10.10,PIRSF_domain:PIRSF037933,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs1364686683	.												C	3	2	12	31143345	31143345	A	C	1	0	0	0	0	1	0	0	0	12772	202	7	5		5	PRSS36	16	31143345	Missense_Mutation	SNP	A	C3L-00144_TP	538630	31143345	59195000	1393	5672											
ITGAX	0	.	GRCh38	chr16	31363365	31363365	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacccagcatcagcccctcCcacagccaggtgaggccgtg	8	4	12	17	1	1	1	1	1	0	0	2	2	2	2	6	3	3	1	6	3	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1701C>A	p.=	p.S567S	ENST00000562522	14/31	395	313	82	326	326	0	strelka-varscan-mutect	ITGAX,synonymous_variant,p.=,ENST00000268296,NM_000887.4;ITGAX,synonymous_variant,p.=,ENST00000562522,NM_001286375.1;ITGAX,downstream_gene_variant,,ENST00000562918,;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;RP11-120K18.3,upstream_gene_variant,,ENST00000561830,;	A	ENST00000562522	Transcript	synonymous_variant	1734/3990	1701/3510	567/1169	S	tcC/tcA		1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1			14/31		Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,SMART_domains:SM00191,Superfamily_domains:SSF69318																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	31363365	31363365	C	A	1	0	0	0	0	0	0	0	1	7796	610	22	2		2	ITGAX	16	31363365	Silent	SNP	C	C3L-00144_TP	220020	31363365	58974980	1394	5673											
ITGAX	0	.	GRCh38	chr16	31381852	31381852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgatggaggaggcaaatgGacaaattgccccagaaaacg	17	5	12	7	1	0	2	0	1	0	1	0	5	0	5	2	4	2	1	2	4	5	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3437G>T	p.Gly1146Val	p.G1146V	ENST00000562522	30/31	196	162	34	157	157	0	strelka-varscan-mutect	ITGAX,missense_variant,p.Gly1146Val,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Gly1146Val,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;	T	ENST00000562522	Transcript	missense_variant	3470/3990	3437/3510	1146/1169	G/V	gGa/gTa		1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	tolerated(0.16)		30/31		hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	31381852	31381852	G	T	1	0	0	0	0	1	0	0	0	7796	1174	41	2		2	ITGAX	16	31381852	Missense_Mutation	SNP	G	C3L-00144_TP	18487	31381852	58956493	1395	5674											
SALL1	0	.	GRCh38	chr16	51139490	51139490	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgccagcactttggCtttccatgtcaccacccact	6	11	8	16	0	1	0	1	0	0	0	2	0	2	0	4	2	2	3	4	2	0	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2732G>T	p.Ser911Ile	p.S911I	ENST00000251020	2/3	293	233	60	293	292	1	strelka-varscan-mutect	SALL1,missense_variant,p.Ser814Ile,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Ser911Ile,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Ser814Ile,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	A	ENST00000251020	Transcript	missense_variant	2766/5146	2732/3975	911/1324	S/I	aGc/aTc		1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	deleterious(0)		2/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	51139490	51139490	C	A	1	0	0	0	0	1	0	0	0	14069	797	28	2		2	SALL1	16	51139490	Missense_Mutation	SNP	C	C3L-00144_TP	19757638	51139490	39198855	1396	5675											
MMP2	0	.	GRCh38	chr16	55488630	55488630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctatgacagctgcaccaCtgagggccgcacggatggct	9	7	12	13	2	0	2	0	2	0	0	1	3	1	3	3	3	2	4	3	3	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.920C>T	p.Thr307Ile	p.T307I	ENST00000219070	6/13	249	191	58	306	306	0	strelka-varscan-mutect	MMP2,missense_variant,p.Thr307Ile,ENST00000219070,NM_004530.5;MMP2,missense_variant,p.Thr231Ile,ENST00000570308,;MMP2,missense_variant,p.Thr257Ile,ENST00000437642,NM_001127891.2;MMP2,missense_variant,p.Thr231Ile,ENST00000543485,NM_001302508.1,NM_001302510.1,NM_001302509.1;MMP2,upstream_gene_variant,,ENST00000570283,;MMP2,downstream_gene_variant,,ENST00000564864,;MMP2,downstream_gene_variant,,ENST00000568715,;RP11-212I21.3,non_coding_transcript_exon_variant,,ENST00000623886,;	T	ENST00000219070	Transcript	missense_variant	1429/3741	920/1983	307/660	T/I	aCt/aTt		1		1	MMP2	HGNC	HGNC:7166	protein_coding	YES	CCDS10752.1	ENSP00000219070	P08253	A0A024R6R4	UPI00000422C4	NM_004530.5	deleterious(0)		6/13		Gene3D:2.10.10.10,Pfam_domain:PF00040,Pfam_domain:PF00413,PROSITE_patterns:PS00023,PROSITE_profiles:PS51092,SMART_domains:SM00059,SMART_domains:SM00235,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	55488630	55488630	C	T	1	0	0	0	0	1	0	0	0	9621	565	20	3		3	MMP2	16	55488630	Missense_Mutation	SNP	C	C3L-00144_TP	4349140	55488630	34849715	1397	5676											
CDH5	0	.	GRCh38	chr16	66403074	66403074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgactcatccgactctGacgtggattacgacttcctt	8	11	8	14	4	2	1	1	1	1	0	4	5	4	2	3	1	1	1	3	1	1	3	rs758376963		C3L-00144_TP	C3L-00144_NB	G	G																c.2260G>T	p.Asp754Tyr	p.D754Y	ENST00000341529	12/12	302	240	62	322	322	0	strelka-varscan-mutect	CDH5,missense_variant,p.Asp754Tyr,ENST00000341529,NM_001795.3;CDH5,missense_variant,p.Asp639Tyr,ENST00000614547,;CDH5,missense_variant,p.Asp193Tyr,ENST00000539168,;CDH5,3_prime_UTR_variant,,ENST00000565334,;	T	ENST00000341529	Transcript	missense_variant	2408/4120	2260/2355	754/784	D/Y	Gac/Tac	rs758376963	1		1	CDH5	HGNC	HGNC:1764	protein_coding	YES	CCDS10804.1	ENSP00000344115	P33151		UPI000016B272	NM_001795.3	deleterious(0)		12/12		Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF89,hmmpanther:PTHR24027,Pfam_domain:PF01049,Gene3D:4.10.900.10																	MODERATE	1	SNV	1			1										PASS		rs758376963	.												T	3	4	12	66403074	66403074	G	T	1	0	0	0	0	1	0	0	0	2816	1290	45	2		2	CDH5	16	66403074	Missense_Mutation	SNP	G	C3L-00144_TP	10914444	66403074	23935271	1398	5677											
TRADD	0	.	GRCh38	chr16	67155488	67155488	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccgagtgctgggcgagCgcggccgccaggctcctctg	4	5	17	15	5	1	0	0	0	1	0	2	2	2	0	4	4	2	3	4	4	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.318G>T	p.=	p.A106A	ENST00000345057	3/5	138	106	32	146	146	0	strelka-varscan-mutect	TRADD,synonymous_variant,p.=,ENST00000345057,NM_003789.3;TRADD,synonymous_variant,p.=,ENST00000486556,;B3GNT9,upstream_gene_variant,,ENST00000449549,NM_033309.2;FBXL8,upstream_gene_variant,,ENST00000258200,;FBXL8,upstream_gene_variant,,ENST00000519917,NM_018378.2;FBXL8,upstream_gene_variant,,ENST00000518148,;FBXL8,upstream_gene_variant,,ENST00000521920,;FBXL8,upstream_gene_variant,,ENST00000517382,;TRADD,downstream_gene_variant,,ENST00000566104,;TRADD,downstream_gene_variant,,ENST00000563348,;FBXL8,upstream_gene_variant,,ENST00000519945,;TRADD,upstream_gene_variant,,ENST00000566247,;	A	ENST00000345057	Transcript	synonymous_variant	787/1877	318/939	106/312	A	gcG/gcT		1		-1	TRADD	HGNC	HGNC:12030	protein_coding	YES	CCDS10829.1	ENSP00000341268	Q15628		UPI00001372E3	NM_003789.3			3/5		Low_complexity_(Seg):seg,hmmpanther:PTHR14913,Gene3D:1f3vA00,Pfam_domain:PF09034,Superfamily_domains:0046699,PD182470																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	67155488	67155488	C	A	1	0	0	0	0	0	0	0	1	16919	755	27	1		1	TRADD	16	67155488	Silent	SNP	C	C3L-00144_TP	752414	67155488	23182857	1399	5678											
PKD1L3	0	.	GRCh38	chr16	71990331	71990331	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttggaagatgaccaggtccTatagaaaaaagaaagcagac	18	6	11	6	0	0	5	0	1	0	4	1	6	1	6	2	2	1	2	2	2	7	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.536-2A>G		p.X179_splice	ENST00000620267		87	76	11	68	68	0	strelka-varscan-mutect	PKD1L3,splice_acceptor_variant,,ENST00000620267,NM_181536.1;RPL39P31,downstream_gene_variant,,ENST00000467090,;	C	ENST00000620267	Transcript	splice_acceptor_variant	-/5199	536/5199	179/1732				1		-1	PKD1L3	HGNC	HGNC:21716	protein_coding	YES	CCDS73912.1	ENSP00000480090	Q7Z443		UPI00001A36E5	NM_181536.1				3/29																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	12	71990331	71990331	T	C	1	0	0	0	0	0	0	1	0	12061	1536	53	5		5	PKD1L3	16	71990331	Splice_Site	SNP	T	C3L-00144_TP	4834843	71990331	18348014	1400	5679											
WDR59	0	.	GRCh38	chr16	74888302	74888302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgaacatcccggagcCggcaatagtgagccaacctg	10	7	12	12	2	1	2	0	2	1	0	2	3	2	3	4	2	4	1	4	2	4	1	rs144238663		C3L-00144_TP	C3L-00144_NB	C	C																c.2213G>T	p.Arg738Leu	p.R738L	ENST00000262144	22/26	98	72	26	79	79	0	strelka-varscan-mutect	WDR59,missense_variant,p.Arg738Leu,ENST00000262144,NM_030581.3;WDR59,intron_variant,,ENST00000563797,;WDR59,downstream_gene_variant,,ENST00000569229,;WDR59,non_coding_transcript_exon_variant,,ENST00000569788,;WDR59,non_coding_transcript_exon_variant,,ENST00000567018,;WDR59,upstream_gene_variant,,ENST00000569183,;WDR59,downstream_gene_variant,,ENST00000563381,;WDR59,downstream_gene_variant,,ENST00000566924,;WDR59,upstream_gene_variant,,ENST00000569968,;	A	ENST00000262144	Transcript	missense_variant	2344/5898	2213/2925	738/974	R/L	cGg/cTg	rs144238663	1		-1	WDR59	HGNC	HGNC:25706	protein_coding	YES	CCDS32488.1	ENSP00000262144	Q6PJI9		UPI000019839C	NM_030581.3	deleterious(0.05)		22/26		hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF116																	MODERATE	1	SNV	5			1										PASS		rs144238663	.												A	3	1	12	74888302	74888302	C	A	1	0	0	0	0	1	0	0	0	17867	652	23	1		1	WDR59	16	74888302	Missense_Mutation	SNP	C	C3L-00144_TP	2897971	74888302	15450043	1401	5680											
CTRB1	0	.	GRCh38	chr16	75219055	75219055	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccttgtgggggccgcCtttggtgagtgctggtgccc	1	13	15	12	1	1	1	0	1	1	0	2	1	1	1	4	4	2	1	4	4	0	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.48C>A	p.=	p.A16A	ENST00000361017	1/7	192	149	43	170	169	1	strelka-varscan-mutect	CTRB1,synonymous_variant,p.=,ENST00000361017,NM_001906.4;CTRB1,upstream_gene_variant,,ENST00000495583,;	A	ENST00000361017	Transcript	synonymous_variant	56/858	48/792	16/263	A	gcC/gcA		1		1	CTRB1	HGNC	HGNC:2521	protein_coding	YES	CCDS32490.1	ENSP00000354294	P17538		UPI000013E843	NM_001906.4			1/7		hmmpanther:PTHR24250,hmmpanther:PTHR24250:SF23,Superfamily_domains:SSF50494,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	75219055	75219055	C	A	1	0	0	0	0	0	0	0	1	3834	695	24	2		2	CTRB1	16	75219055	Silent	SNP	C	C3L-00144_TP	330753	75219055	15119290	1402	5681											
CNTNAP4	0	.	GRCh38	chr16	76521187	76521187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataccgaggcttcatatcttCattttcctaccttccacgga	9	14	5	13	2	3	0	2	0	1	0	5	2	5	1	4	2	2	1	4	2	3	8			C3L-00144_TP	C3L-00144_NB	C	C																c.2413C>G	p.His805Asp	p.H805D	ENST00000611870	16/24	243	193	50	253	253	0	strelka-varscan-mutect	CNTNAP4,missense_variant,p.His805Asp,ENST00000307431,;CNTNAP4,missense_variant,p.His805Asp,ENST00000611870,NM_033401.3;CNTNAP4,missense_variant,p.His757Asp,ENST00000377504,;CNTNAP4,missense_variant,p.His808Asp,ENST00000476707,;CNTNAP4,missense_variant,p.His757Asp,ENST00000622250,;CNTNAP4,missense_variant,p.His732Asp,ENST00000478060,NM_138994.3;	G	ENST00000611870	Transcript	missense_variant	2798/4867	2413/3927	805/1308	H/D	Cat/Gat	COSM5363274,COSM5363275	1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3	deleterious(0)		16/24		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659,Superfamily_domains:SSF49899											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	12	76521187	76521187	C	G	1	0	0	0	0	1	0	0	0	3431	826	29	4		4	CNTNAP4	16	76521187	Missense_Mutation	SNP	C	C3L-00144_TP	1302132	76521187	13817158	1403	5682											
CBFA2T3	0	.	GRCh38	chr16	88901618	88901618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcacctccgctggggagtCcggcatcgctgaggccttag	5	9	13	14	3	1	1	1	1	0	0	4	2	3	2	4	4	0	3	4	4	1	2			C3L-00144_TP	C3L-00144_NB	C	C																c.190G>T	p.Asp64Tyr	p.D64Y	ENST00000268679	2/12	198	171	27	163	161	2	strelka-varscan-mutect	CBFA2T3,missense_variant,p.Asp64Tyr,ENST00000268679,NM_005187.5;CBFA2T3,missense_variant,p.Asp3Tyr,ENST00000327483,NM_175931.2;CBFA2T3,missense_variant,p.Asp3Tyr,ENST00000569464,;CBFA2T3,missense_variant,p.Asp64Tyr,ENST00000563640,;CBFA2T3,missense_variant,p.Asp3Tyr,ENST00000562719,;CBFA2T3,missense_variant,p.Asp3Tyr,ENST00000569443,;CBFA2T3,missense_variant,p.Asp3Tyr,ENST00000564416,;CBFA2T3,missense_variant,p.Asp3Tyr,ENST00000570046,;	A	ENST00000268679	Transcript	missense_variant	587/4477	190/1962	64/653	D/Y	Gac/Tac	COSM3513244	1		-1	CBFA2T3	HGNC	HGNC:1537	protein_coding	YES	CCDS10972.1	ENSP00000268679	O75081		UPI0000167F93	NM_005187.5	deleterious_low_confidence(0.01)		2/12		hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF6											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	88901618	88901618	C	A	1	0	0	0	0	1	0	0	0	2399	855	30	2		2	CBFA2T3	16	88901618	Missense_Mutation	SNP	C	C3L-00144_TP	12380431	88901618	1436727	1404	5683											
ZZEF1	0	.	GRCh38	chr17	4016381	4016381	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccctcacttgcacctccattCctggctcctccatgaactgg	6	11	6	18	0	1	1	1	1	0	0	5	1	5	1	6	2	2	2	6	2	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.8087G>C	p.Gly2696Ala	p.G2696A	ENST00000381638	49/55	189	139	50	211	211	0	strelka-varscan-mutect	ZZEF1,missense_variant,p.Gly2696Ala,ENST00000381638,NM_015113.3;ZZEF1,3_prime_UTR_variant,,ENST00000572831,;ZZEF1,non_coding_transcript_exon_variant,,ENST00000573536,;ZZEF1,downstream_gene_variant,,ENST00000575428,;	G	ENST00000381638	Transcript	missense_variant	8212/11456	8087/8886	2696/2961	G/A	gGa/gCa		1		-1	ZZEF1	HGNC	HGNC:29027	protein_coding	YES	CCDS11043.1	ENSP00000371051	O43149		UPI00004569F7	NM_015113.3	tolerated(0.13)		49/55		hmmpanther:PTHR22772:SF4,hmmpanther:PTHR22772																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	4016381	4016381	C	G	1	0	0	0	0	1	0	0	0	18859	855	30	4		4	ZZEF1	17	4016381	Missense_Mutation	SNP	C	C3L-00144_TP		4016381	79241060	1405	5684											
ANKFY1	0	.	GRCh38	chr17	4207957	4207957	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatccatttcaatcagataCaggaagaccacgtcttctct	13	11	6	11	1	4	2	2	0	2	2	6	4	5	3	2	1	1	0	2	1	4	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.834G>C	p.=	p.L278L	ENST00000570535	6/25	32	24	8	43	43	0	strelka-mutect	ANKFY1,synonymous_variant,p.=,ENST00000341657,;ANKFY1,synonymous_variant,p.=,ENST00000570535,NM_001257999.1;ANKFY1,synonymous_variant,p.=,ENST00000574367,NM_016376.3;ANKFY1,3_prime_UTR_variant,,ENST00000572412,;ANKFY1,non_coding_transcript_exon_variant,,ENST00000570934,;ANKFY1,non_coding_transcript_exon_variant,,ENST00000573250,;	G	ENST00000570535	Transcript	synonymous_variant	951/6458	834/3636	278/1211	L	ctG/ctC		1		-1	ANKFY1	HGNC	HGNC:20763	protein_coding	YES	CCDS58502.1	ENSP00000459943	Q9P2R3		UPI00003FECB0	NM_001257999.1			6/25		PROSITE_profiles:PS50297,hmmpanther:PTHR24189,hmmpanther:PTHR24189:SF34,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		rs1280472043	.												G	2	3	12	4207957	4207957	C	G	1	0	0	0	0	0	0	0	1	728	465	17	4		4	ANKFY1	17	4207957	Silent	SNP	C	C3L-00144_TP	191576	4207957	79049484	1406	5685											
VMO1	0	.	GRCh38	chr17	4785455	4785455	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtctgcaggccgcacgcGcccttggggcaatggtcact	5	9	14	13	3	2	0	1	0	1	0	2	0	2	0	2	5	1	3	2	5	1	2	rs867305384		C3L-00144_TP	C3L-00144_NB	G	G																c.516C>T	p.=	p.G172G	ENST00000328739	3/3	224	162	62	246	246	0	strelka-varscan-mutect	VMO1,synonymous_variant,p.=,ENST00000328739,NM_182566.2;VMO1,3_prime_UTR_variant,,ENST00000441199,NM_001144939.1;VMO1,3_prime_UTR_variant,,ENST00000416307,NM_001144940.1;VMO1,3_prime_UTR_variant,,ENST00000354194,NM_001144941.1;GLTPD2,upstream_gene_variant,,ENST00000331264,NM_001014985.2;TM4SF5,downstream_gene_variant,,ENST00000270560,NM_003963.2;RP11-81A22.4,upstream_gene_variant,,ENST00000623798,;TM4SF5,downstream_gene_variant,,ENST00000576530,;	A	ENST00000328739	Transcript	synonymous_variant	596/766	516/609	172/202	G	ggC/ggT	rs867305384,COSM980662	1		-1	VMO1	HGNC	HGNC:30387	protein_coding	YES	CCDS11055.1	ENSP00000328397	Q7Z5L0		UPI000004BA7A	NM_182566.2			3/3		hmmpanther:PTHR18841:SF3,hmmpanther:PTHR18841,Pfam_domain:PF03762,Gene3D:1vmoA00,Superfamily_domains:0050258											0,1						LOW	1	SNV	1		0,1	1										PASS		rs867305384	.												A	2	1	12	4785455	4785455	G	A	1	0	0	0	0	0	0	0	1	17724	1074	38	1		1	VMO1	17	4785455	Silent	SNP	G	C3L-00144_TP	577498	4785455	78471986	1407	5686											
AIPL1	0	.	GRCh38	chr17	6428361	6428361	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggctgaggctccttcTgcagctcgtccaggtcctcg	5	9	12	15	2	1	2	0	1	1	1	6	2	4	2	4	3	2	4	4	3	0	1	rs773661686		C3L-00144_TP	C3L-00144_NB	T	T																c.422A>T	p.Gln141Leu	p.Q141L	ENST00000381129	3/6	401	302	99	434	433	1	strelka-varscan-mutect	AIPL1,missense_variant,p.Gln141Leu,ENST00000381129,NM_014336.4;AIPL1,missense_variant,p.Gln141Leu,ENST00000575265,;AIPL1,missense_variant,p.Gln129Leu,ENST00000574506,NM_001285399.2,NM_001285402.1;AIPL1,missense_variant,p.Gln141Leu,ENST00000571740,NM_001285403.2;AIPL1,missense_variant,p.Gln119Leu,ENST00000570466,NM_001285400.2;AIPL1,missense_variant,p.Gln141Leu,ENST00000576776,NM_001285401.2;AIPL1,missense_variant,p.Gln81Leu,ENST00000576307,NM_001033055.2;AIPL1,missense_variant,p.Gln141Leu,ENST00000574913,;AIPL1,intron_variant,,ENST00000250087,NM_001033054.2;AIPL1,intron_variant,,ENST00000570584,;AIPL1,3_prime_UTR_variant,,ENST00000381128,;	A	ENST00000381129	Transcript	missense_variant	503/2959	422/1155	141/384	Q/L	cAg/cTg	rs773661686	1		-1	AIPL1	HGNC	HGNC:359	protein_coding	YES	CCDS11075.1	ENSP00000370521	Q9NZN9	F1T0B6	UPI0000125741	NM_014336.4	tolerated(0.48)		3/6		Gene3D:3.10.50.40,hmmpanther:PTHR11242,hmmpanther:PTHR11242:SF2,Superfamily_domains:SSF54534																	MODERATE	1	SNV	1			1										PASS		rs773661686	.												A	3	1	12	6428361	6428361	T	A	1	0	0	0	0	1	0	0	0	513	1580	55	4		4	AIPL1	17	6428361	Missense_Mutation	SNP	T	C3L-00144_TP	1642906	6428361	76829080	1408	5687											
TP53	0	.	GRCh38	chr17	7675151	7675151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatggcgcggacgcgggtgCcgggcgggggtgtggaatca	5	5	21	10	6	1	0	1	0	0	0	1	2	1	2	2	7	1	0	2	7	1	0	rs762846821		C3L-00144_TP	C3L-00144_NB	C	C																c.461G>T	p.Gly154Val	p.G154V	ENST00000269305	5/11	248	175	73	244	243	1	strelka-varscan-mutect	TP53,missense_variant,p.Gly154Val,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Gly154Val,ENST00000420246,;TP53,missense_variant,p.Gly115Val,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Gly115Val,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Gly154Val,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Gly115Val,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Gly154Val,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Gly115Val,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Gly154Val,ENST00000445888,;TP53,missense_variant,p.Gly115Val,ENST00000619485,;TP53,missense_variant,p.Gly22Val,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Gly22Val,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Gly22Val,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Gly154Val,ENST00000359597,;TP53,missense_variant,p.Gly143Val,ENST00000615910,;TP53,missense_variant,p.Gly154Val,ENST00000413465,;TP53,missense_variant,p.Gly22Val,ENST00000509690,;TP53,missense_variant,p.Gly154Val,ENST00000508793,;TP53,missense_variant,p.Gly61Val,ENST00000514944,;TP53,5_prime_UTR_variant,,ENST00000618944,NM_001276698.1;TP53,5_prime_UTR_variant,,ENST00000610623,NM_001276699.1;TP53,5_prime_UTR_variant,,ENST00000619186,NM_001276697.1;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Gly115Val,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	651/2579	461/1182	154/393	G/V	gGc/gTc	rs762846821,CM951223,TP53_g.12449G>C,TP53_g.12449G>T,TP53_g.12449G>A,COSM1649372,COSM342243,COSM342244,COSM342245,COSM342246,COSM4271946,COSM45622,COSM46378,COSM5315967,COSM5315968,COSM5315969,COSM5315970,COSM5315971,COSM5315972,COSM5315973,COSM6815	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		5/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417											0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		0,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs762846821	.												A	3	1	12	7675151	7675151	C	A	1	0	0	0	0	1	0	0	0	16859	739	26	2		2	TP53	17	7675151	Missense_Mutation	SNP	C	C3L-00144_TP	1246790	7675151	75582290	1409	5688											
ALOXE3	0	.	GRCh38	chr17	8117995	8117995	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcggtacactgccatgatgGgaaggaggaagggatgcccc	10	5	17	9	1	0	1	0	1	0	0	0	5	0	5	3	6	3	1	3	6	3	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.392C>G	p.Pro131Arg	p.P131R	ENST00000318227	2/16	351	264	87	366	366	0	strelka-varscan-mutect	ALOXE3,missense_variant,p.Pro155Arg,ENST00000380149,;ALOXE3,missense_variant,p.Pro131Arg,ENST00000318227,NM_001165960.1;ALOXE3,5_prime_UTR_variant,,ENST00000448843,NM_021628.2;HES7,downstream_gene_variant,,ENST00000541682,NM_001165967.1;HES7,downstream_gene_variant,,ENST00000317814,NM_032580.3;HES7,downstream_gene_variant,,ENST00000577735,;	C	ENST00000318227	Transcript	missense_variant	661/3053	392/2532	131/843	P/R	cCc/cGc		1		-1	ALOXE3	HGNC	HGNC:13743	protein_coding	YES	CCDS54084.1	ENSP00000314879	Q9BYJ1		UPI0000EE63AA	NM_001165960.1	deleterious_low_confidence(0)		2/16																			MODERATE		SNV	2			1										PASS		rs1218247458	.												C	3	2	12	8117995	8117995	G	C	1	0	0	0	0	1	0	0	0	642	1232	43	4		4	ALOXE3	17	8117995	Missense_Mutation	SNP	G	C3L-00144_TP	442844	8117995	75139446	1410	5689											
PFAS	0	.	GRCh38	chr17	8255074	8255074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcgtgtcagtgtgccGcgccactgggctggggcctg	5	8	15	13	3	1	0	1	0	0	0	2	0	1	0	3	3	2	1	3	3	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.326G>T	p.Arg109Leu	p.R109L	ENST00000314666	4/28	186	140	46	167	167	0	strelka-varscan-mutect	PFAS,missense_variant,p.Arg109Leu,ENST00000314666,NM_012393.2;PFAS,missense_variant,p.Arg109Leu,ENST00000584044,;PFAS,missense_variant,p.Arg109Leu,ENST00000625942,;PFAS,downstream_gene_variant,,ENST00000585183,;PFAS,downstream_gene_variant,,ENST00000581242,;PFAS,missense_variant,p.Arg109Leu,ENST00000580356,;	T	ENST00000314666	Transcript	missense_variant	459/5371	326/4017	109/1338	R/L	cGc/cTc		1		1	PFAS	HGNC	HGNC:8863	protein_coding	YES	CCDS11136.1	ENSP00000313490	O15067		UPI00001A95E5	NM_012393.2	tolerated(0.08)		4/28		HAMAP:MF_00419,hmmpanther:PTHR10099,hmmpanther:PTHR10099:SF1,TIGRFAM_domain:TIGR01735,Superfamily_domains:SSF82697																	MODERATE	1	SNV	1			1										PASS		rs1192661049	.												T	3	4	12	8255074	8255074	G	T	1	0	0	0	0	1	0	0	0	11844	1087	38	1		1	PFAS	17	8255074	Missense_Mutation	SNP	G	C3L-00144_TP	137079	8255074	75002367	1411	5690											
PIK3R6	0	.	GRCh38	chr17	8832908	8832908	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcagcgccccgccgcGggacccagcagcgagcagta	8	1	13	19	6	0	0	0	0	0	0	0	2	0	1	6	1	4	4	6	1	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.783C>A	p.=	p.P261P	ENST00000619866	9/20	353	264	89	352	351	1	strelka-varscan-mutect	PIK3R6,synonymous_variant,p.=,ENST00000619866,NM_001010855.3,NM_001290211.1;PIK3R6,synonymous_variant,p.=,ENST00000614407,;PIK3R6,3_prime_UTR_variant,,ENST00000611951,;PIK3R6,intron_variant,,ENST00000613555,;	T	ENST00000619866	Transcript	synonymous_variant	1023/3041	783/2265	261/754	P	ccC/ccA		1		-1	PIK3R6	HGNC	HGNC:27101	protein_coding	YES	CCDS73985.1	ENSP00000480157	Q5UE93		UPI0000043463	NM_001010855.3,NM_001290211.1			9/20		hmmpanther:PTHR15593:SF1,hmmpanther:PTHR15593,Pfam_domain:PF10486																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	12	8832908	8832908	G	T	1	0	0	0	0	0	0	0	1	12018	1103	39	1		1	PIK3R6	17	8832908	Silent	SNP	G	C3L-00144_TP	577834	8832908	74424533	1412	5691											
PIK3R5	0	.	GRCh38	chr17	8887555	8887555	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctaggggagtctgtcgggGgtgagggcgtctggctccga	4	8	20	9	3	2	1	0	1	2	0	4	3	3	2	2	6	0	1	2	6	1	1	rs773805061		C3L-00144_TP	C3L-00144_NB	G	G																c.1745C>G	p.Pro582Arg	p.P582R	ENST00000447110	11/19	177	128	49	165	165	0	strelka-varscan-mutect	PIK3R5,missense_variant,p.Pro582Arg,ENST00000447110,NM_001142633.2;PIK3R5,missense_variant,p.Pro196Arg,ENST00000616147,NM_001251852.1;PIK3R5,missense_variant,p.Pro196Arg,ENST00000611902,NM_001251853.1,NM_001251851.1;PIK3R5,missense_variant,p.Pro196Arg,ENST00000623421,NM_001251855.1;PIK3R5,missense_variant,p.Pro582Arg,ENST00000581552,NM_014308.3;PIK3R5,missense_variant,p.Pro582Arg,ENST00000584803,;PIK3R5,downstream_gene_variant,,ENST00000578457,;PIK3R5,downstream_gene_variant,,ENST00000580959,;PIK3R5,downstream_gene_variant,,ENST00000584456,;PIK3R5,upstream_gene_variant,,ENST00000578743,;PIK3R5,downstream_gene_variant,,ENST00000577981,;PIK3R5,downstream_gene_variant,,ENST00000583812,;PIK3R5,3_prime_UTR_variant,,ENST00000269300,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000578515,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000583039,;PIK3R5,upstream_gene_variant,,ENST00000577214,;	C	ENST00000447110	Transcript	missense_variant	1875/4495	1745/2643	582/880	P/R	cCc/cGc	rs773805061	1		-1	PIK3R5	HGNC	HGNC:30035	protein_coding	YES	CCDS11147.1	ENSP00000392812	Q8WYR1	L7RT34	UPI0000071DB4	NM_001142633.2	tolerated(0.54)		11/19		Low_complexity_(Seg):seg,hmmpanther:PTHR15593,hmmpanther:PTHR15593:SF2,Pfam_domain:PF10486																	MODERATE	1	SNV	5			1										PASS		rs773805061	.												C	3	2	12	8887555	8887555	G	C	1	0	0	0	0	1	0	0	0	12017	1232	43	4		4	PIK3R5	17	8887555	Missense_Mutation	SNP	G	C3L-00144_TP	54647	8887555	74369886	1413	5692											
GLP2R	0	.	GRCh38	chr17	9861159	9861159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttccctgtgctatttgttGtaccctggggtttcgcccgt	2	16	10	13	2	0	0	0	0	0	0	2	0	1	0	4	2	2	4	4	2	2	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.946G>C	p.Val316Leu	p.V316L	ENST00000262441	8/13	221	172	49	206	206	0	strelka-varscan-mutect	GLP2R,missense_variant,p.Val316Leu,ENST00000262441,NM_004246.2;GLP2R,missense_variant,p.Val136Leu,ENST00000574745,;GLP2R,downstream_gene_variant,,ENST00000304773,;GLP2R,3_prime_UTR_variant,,ENST00000458005,;	C	ENST00000262441	Transcript	missense_variant	1459/4572	946/1662	316/553	V/L	Gta/Cta		1		1	GLP2R	HGNC	HGNC:4325	protein_coding	YES	CCDS11150.1	ENSP00000262441	O95838		UPI0000050469	NM_004246.2	tolerated(0.06)		8/13		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF269,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249																	MODERATE	1	SNV	1			1										PASS		rs1289368447	.												C	3	2	12	9861159	9861159	G	C	1	0	0	0	0	1	0	0	0	6332	1377	48	4		4	GLP2R	17	9861159	Missense_Mutation	SNP	G	C3L-00144_TP	973604	9861159	73396282	1414	5693											
GAS7	0	.	GRCh38	chr17	9926671	9926671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcatagcggctggcgagCtgcttgcgaaggtcggcaat	8	7	17	9	4	0	0	0	0	0	0	1	3	0	0	0	5	4	5	0	5	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.984G>A	p.=	p.Q328Q	ENST00000432992	10/14	226	164	62	209	209	0	strelka-varscan-mutect	GAS7,synonymous_variant,p.=,ENST00000323816,;GAS7,synonymous_variant,p.=,ENST00000437099,NM_001130831.1;GAS7,synonymous_variant,p.=,ENST00000432992,NM_201433.1;GAS7,synonymous_variant,p.=,ENST00000585266,NM_201432.1;GAS7,synonymous_variant,p.=,ENST00000580865,NM_003644.2;GAS7,synonymous_variant,p.=,ENST00000542249,;GAS7,synonymous_variant,p.=,ENST00000579158,;GAS7,intron_variant,,ENST00000396115,;GAS7,intron_variant,,ENST00000583882,;GAS7,non_coding_transcript_exon_variant,,ENST00000581871,;GAS7,downstream_gene_variant,,ENST00000580811,;GAS7,upstream_gene_variant,,ENST00000581112,;GAS7,non_coding_transcript_exon_variant,,ENST00000578456,;	T	ENST00000432992	Transcript	synonymous_variant	1145/4970	984/1431	328/476	Q	caG/caA		1		-1	GAS7	HGNC	HGNC:4169	protein_coding	YES	CCDS11152.1	ENSP00000407552	O60861		UPI00001B4B17	NM_201433.1			10/14		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51741,hmmpanther:PTHR23065,Superfamily_domains:SSF103657																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	9926671	9926671	C	T	1	0	0	0	0	0	0	0	1	6120	796	28	3		3	GAS7	17	9926671	Silent	SNP	C	C3L-00144_TP	65512	9926671	73330770	1415	5694											
MYH4	0	.	GRCh38	chr17	10445063	10445063	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggagctgcagatccttcacGgtctgctccatgttcttctt	5	14	9	13	2	4	1	1	0	3	1	6	2	6	2	2	2	3	4	2	2	0	4	rs199974986		C3L-00144_TP	C3L-00144_NB	G	G																c.5379C>A	p.=	p.T1793T	ENST00000255381	37/40	413	316	97	415	415	0	strelka-varscan-mutect	MYH4,synonymous_variant,p.=,ENST00000255381,NM_017533.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000255381	Transcript	synonymous_variant	5490/6016	5379/5820	1793/1939	T	acC/acA	rs199974986	1		-1	MYH4	HGNC	HGNC:7574	protein_coding	YES	CCDS11154.1	ENSP00000255381	Q9Y623		UPI000013CEAB	NM_017533.2			37/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF271																	LOW	1	SNV	1			1										PASS		rs199974986	.												T	2	4	12	10445063	10445063	G	T	1	0	0	0	0	0	0	0	1	10037	1103	39	1		1	MYH4	17	10445063	Silent	SNP	G	C3L-00144_TP	518392	10445063	72812378	1416	5695											
MYH4	0	.	GRCh38	chr17	10452478	10452478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcatcttcaatcttgcCttgcagattgctcatttcaa	8	18	5	10	0	6	1	4	0	2	1	6	1	6	1	1	0	3	3	1	0	2	7	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3286G>A	p.Gly1096Ser	p.G1096S	ENST00000255381	26/40	243	198	45	229	229	0	strelka-varscan-mutect	MYH4,missense_variant,p.Gly1096Ser,ENST00000255381,NM_017533.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000255381	Transcript	missense_variant	3397/6016	3286/5820	1096/1939	G/S	Ggc/Agc		1		-1	MYH4	HGNC	HGNC:7574	protein_coding	YES	CCDS11154.1	ENSP00000255381	Q9Y623		UPI000013CEAB	NM_017533.2	tolerated(1)		26/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF271,Superfamily_domains:SSF90257																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	10452478	10452478	C	T	1	0	0	0	0	1	0	0	0	10037	681	24	3		3	MYH4	17	10452478	Missense_Mutation	SNP	C	C3L-00144_TP	7415	10452478	72804963	1417	5696											
MYH4	0	.	GRCh38	chr17	10453260	10453260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggcctcctggagagcCttcttctccttggtcagctt	3	14	12	12	0	3	1	1	0	2	1	5	2	4	1	4	4	2	1	4	4	0	4	rs138556802		C3L-00144_TP	C3L-00144_NB	C	C																c.3003G>T	p.Lys1001Asn	p.K1001N	ENST00000255381	24/40	356	274	82	342	341	1	strelka-varscan-mutect	MYH4,missense_variant,p.Lys1001Asn,ENST00000255381,NM_017533.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000255381	Transcript	missense_variant	3114/6016	3003/5820	1001/1939	K/N	aaG/aaT	rs138556802	1		-1	MYH4	HGNC	HGNC:7574	protein_coding	YES	CCDS11154.1	ENSP00000255381	Q9Y623		UPI000013CEAB	NM_017533.2	deleterious(0)		24/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF271,Superfamily_domains:SSF90257																	MODERATE	1	SNV	1			1										PASS		rs138556802	.												A	3	1	12	10453260	10453260	C	A	1	0	0	0	0	1	0	0	0	10037	680	24	2		2	MYH4	17	10453260	Missense_Mutation	SNP	C	C3L-00144_TP	782	10453260	72804181	1418	5697											
MYH4	0	.	GRCh38	chr17	10454951	10454951	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctctcacctcctctccaTcatctttctgaactccactc	6	13	4	18	0	5	1	2	1	4	0	10	1	7	1	4	1	1	1	4	1	1	1	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2425A>T	p.Met809Leu	p.M809L	ENST00000255381	21/40	160	117	43	145	144	1	strelka-varscan-mutect	MYH4,missense_variant,p.Met809Leu,ENST00000255381,NM_017533.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000255381	Transcript	missense_variant	2536/6016	2425/5820	809/1939	M/L	Atg/Ttg		1		-1	MYH4	HGNC	HGNC:7574	protein_coding	YES	CCDS11154.1	ENSP00000255381	Q9Y623		UPI000013CEAB	NM_017533.2	tolerated(1)		21/40		Gene3D:1wdcA00,PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF271,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	10454951	10454951	T	A	1	0	0	0	0	1	0	0	0	10037	1435	50	4		4	MYH4	17	10454951	Missense_Mutation	SNP	T	C3L-00144_TP	1691	10454951	72802490	1419	5698											
MYH1	0	.	GRCh38	chr17	10505884	10505884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcggatgccttccagcacaCcgttacacctcagctgatgc	8	9	9	15	2	1	1	1	1	0	0	2	2	2	2	4	1	6	3	4	1	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2102G>T	p.Gly701Val	p.G701V	ENST00000226207	19/40	238	183	55	216	216	0	strelka-varscan-mutect	MYH1,missense_variant,p.Gly701Val,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000226207	Transcript	missense_variant	2197/6024	2102/5820	701/1939	G/V	gGt/gTt		1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3	deleterious(0)		19/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF454,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	12	10505884	10505884	C	A	1	0	0	0	0	1	0	0	0	10029	507	18	2		2	MYH1	17	10505884	Missense_Mutation	SNP	C	C3L-00144_TP	50933	10505884	72751557	1420	5699											
MYH2	0	.	GRCh38	chr17	10529040	10529040	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctttggcccgggaggcccGctctgcctcgatttcctcct	2	12	11	16	3	1	0	0	0	1	0	4	2	3	1	5	3	2	2	5	3	0	2	rs745807547		C3L-00144_TP	C3L-00144_NB	G	G																c.3394C>A	p.=	p.R1132R	ENST00000245503	27/40	471	349	122	403	403	0	strelka-varscan-mutect	MYH2,synonymous_variant,p.=,ENST00000245503,NM_017534.5;MYH2,synonymous_variant,p.=,ENST00000397183,NM_001100112.1;MYH2,intron_variant,,ENST00000532183,;MYH2,intron_variant,,ENST00000622564,;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000245503	Transcript	synonymous_variant	3779/6339	3394/5826	1132/1941	R	Cgg/Agg	rs745807547,COSM3783016	1		-1	MYH2	HGNC	HGNC:7572	protein_coding	YES	CCDS11156.1	ENSP00000245503	Q9UKX2		UPI000012FB6C	NM_017534.5			27/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF385,Low_complexity_(Seg):seg,Superfamily_domains:SSF90257											0,1						LOW	1	SNV	1		0,1	1										PASS		rs745807547	.												T	2	4	12	10529040	10529040	G	T	1	0	0	0	0	0	0	0	1	10035	1086	38	1		1	MYH2	17	10529040	Silent	SNP	G	C3L-00144_TP	23156	10529040	72728401	1421	5700											
DNAH9	0	.	GRCh38	chr17	11647079	11647079	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacccttgcaggtatgagAcaagactttatgaggattgg	11	11	12	7	0	0	4	0	3	0	2	0	6	0	5	1	3	1	2	1	3	3	5			C3L-00144_TP	C3L-00144_NB	A	A																c.1978A>T	p.Thr660Ser	p.T660S	ENST00000262442	12/69	93	77	16	80	80	0	strelka-varscan-mutect	DNAH9,missense_variant,p.Thr660Ser,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Thr660Ser,ENST00000454412,;	T	ENST00000262442	Transcript	missense_variant	2046/13750	1978/13461	660/4486	T/S	Aca/Tca	COSM3771264	1		1	DNAH9	HGNC	HGNC:2953	protein_coding	YES	CCDS11160.1	ENSP00000262442	Q9NYC9		UPI0000141BA2	NM_001372.3	tolerated(0.33)		12/69		Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	12	11647079	11647079	A	T	1	0	0	0	0	1	0	0	0	4423	275	10	4		4	DNAH9	17	11647079	Missense_Mutation	SNP	A	C3L-00144_TP	1118039	11647079	71610362	1422	5701											
FLII	0	.	GRCh38	chr17	18253628	18253628	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggacagctccgtgatCtggttgctgctgaggttgag	7	10	15	9	1	1	3	0	3	1	0	2	4	2	4	1	3	3	5	1	3	0	2	rs547560301		C3L-00144_TP	C3L-00144_NB	C	C																c.771G>T	p.Gln257His	p.Q257H	ENST00000327031	8/30	139	103	36	171	171	0	strelka-varscan-mutect	FLII,missense_variant,p.Gln257His,ENST00000327031,NM_002018.3;FLII,missense_variant,p.Gln203His,ENST00000545457,NM_001256265.1;FLII,missense_variant,p.Gln246His,ENST00000579294,NM_001256264.1;FLII,missense_variant,p.Gln257His,ENST00000578558,;FLII,missense_variant,p.Gln140His,ENST00000488932,;FLII,intron_variant,,ENST00000577485,;FLII,downstream_gene_variant,,ENST00000473425,;FLII,downstream_gene_variant,,ENST00000581349,;FLII,downstream_gene_variant,,ENST00000628188,;FLII,intron_variant,,ENST00000584444,;FLII,missense_variant,p.Gln102His,ENST00000577626,;FLII,3_prime_UTR_variant,,ENST00000578101,;FLII,3_prime_UTR_variant,,ENST00000581401,;FLII,non_coding_transcript_exon_variant,,ENST00000461110,;FLII,non_coding_transcript_exon_variant,,ENST00000488221,;FLII,downstream_gene_variant,,ENST00000478416,;FLII,upstream_gene_variant,,ENST00000496727,;FLII,upstream_gene_variant,,ENST00000577402,;FLII,downstream_gene_variant,,ENST00000582626,;	A	ENST00000327031	Transcript	missense_variant	997/4338	771/3810	257/1269	Q/H	caG/caT	rs547560301	1		-1	FLII	HGNC	HGNC:3750	protein_coding	YES	CCDS11192.1	ENSP00000324573	Q13045		UPI0000001284	NM_002018.3	deleterious(0.04)		8/30		PROSITE_profiles:PS51450,hmmpanther:PTHR11977:SF42,hmmpanther:PTHR11977,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00364,SMART_domains:SM00369,Superfamily_domains:SSF52058,Prints_domain:PR00019																	MODERATE	1	SNV	1			1										PASS		rs547560301	.												A	3	1	12	18253628	18253628	C	A	1	0	0	0	0	1	0	0	0	5787	912	32	2		2	FLII	17	18253628	Missense_Mutation	SNP	C	C3L-00144_TP	6606549	18253628	65003813	1423	5702											
FBXW10	0	.	GRCh38	chr17	18772658	18772658	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcccaagtcccgagtactCctgaagccggccaagttctc	8	8	8	17	2	1	1	0	1	1	0	5	2	4	1	6	1	2	2	6	1	4	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2253C>A	p.=	p.L751L	ENST00000395665	12/14	169	124	45	135	135	0	strelka-varscan-mutect	FBXW10,synonymous_variant,p.=,ENST00000308799,;FBXW10,synonymous_variant,p.=,ENST00000395665,NM_001267585.1;FBXW10,synonymous_variant,p.=,ENST00000301938,NM_001267586.1;FBXW10,downstream_gene_variant,,ENST00000573605,;FBXW10,3_prime_UTR_variant,,ENST00000574478,;	A	ENST00000395665	Transcript	synonymous_variant	2474/3431	2253/3159	751/1052	L	ctC/ctA		1		1	FBXW10	HGNC	HGNC:1211	protein_coding	YES	CCDS11199.3	ENSP00000379025	Q5XX13		UPI0000200B30	NM_001267585.1			12/14		hmmpanther:PTHR19872,hmmpanther:PTHR19872:SF7																	LOW	1	SNV	1			1										PASS		rs1405694972	.												A	2	1	12	18772658	18772658	C	A	1	0	0	0	0	0	0	0	1	5626	842	30	2		2	FBXW10	17	18772658	Silent	SNP	C	C3L-00144_TP	519030	18772658	64484783	1424	5703											
VTN	0	.	GRCh38	chr17	28368642	28368643	+	Frame_Shift_Ins	INS	-	-	T																															actcctcctgactgggctggINStgctggaactggtactccca																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.857dupA	p.His286GlnfsTer9	p.H286Qfs*9	ENST00000226218	6/8	245	193	52	195	195	0	sindel-varindel-pindel	VTN,frameshift_variant,p.His286GlnfsTer9,ENST00000226218,NM_000638.3;SARM1,upstream_gene_variant,,ENST00000585482,NM_015077.3;TMEM199,downstream_gene_variant,,ENST00000292114,NM_152464.2;CTB-96E2.2,upstream_gene_variant,,ENST00000555059,;SEBOX,upstream_gene_variant,,ENST00000536498,NM_001080837.3;VTN,downstream_gene_variant,,ENST00000542029,;CTB-96E2.10,upstream_gene_variant,,ENST00000613598,;SARM1,intron_variant,,ENST00000379061,;CTB-96E2.3,intron_variant,,ENST00000591482,;VTN,non_coding_transcript_exon_variant,,ENST00000539746,;	T	ENST00000226218	Transcript	frameshift_variant	1476-1477/2149	857-858/1437	286/478	H/QX	cac/caAc		1		-1	VTN	HGNC	HGNC:12724	protein_coding	YES	CCDS11229.1	ENSP00000226218	P04004	D9ZGG2	UPI0000138E65	NM_000638.3			6/8		Pfam_domain:PF00045,PROSITE_profiles:PS51642,hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF3,SMART_domains:SM00120,Superfamily_domains:SSF50923																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	12	28368642	28368642	-	T	1	0	1	1	0	0	0	0	0	17791	1252	44	0		0	VTN	17	28368642	Frame_Shift_Ins	INS	-	C3L-00144_TP	9595984	28368642	54888799	1425	5704											
PIGS	0	.	GRCh38	chr17	28571125	28571125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtcttccaccagagcGgtagccccagcacgatggcc	7	6	12	16	3	1	1	0	0	1	1	2	2	2	1	6	3	3	2	6	3	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.98C>A	p.Pro33Gln	p.P33Q	ENST00000308360	2/12	305	250	55	238	237	1	strelka-varscan-mutect	PIGS,missense_variant,p.Pro33Gln,ENST00000308360,NM_033198.3;PIGS,missense_variant,p.Pro25Gln,ENST00000395346,;ALDOC,downstream_gene_variant,,ENST00000226253,NM_005165.2;ALDOC,downstream_gene_variant,,ENST00000395321,;ALDOC,downstream_gene_variant,,ENST00000395319,;ALDOC,downstream_gene_variant,,ENST00000460201,;ALDOC,downstream_gene_variant,,ENST00000578590,;ALDOC,downstream_gene_variant,,ENST00000584086,;ALDOC,downstream_gene_variant,,ENST00000581807,;ALDOC,downstream_gene_variant,,ENST00000435638,;RP11-192H23.5,upstream_gene_variant,,ENST00000585189,;PIGS,non_coding_transcript_exon_variant,,ENST00000584413,;PIGS,missense_variant,p.Pro33Gln,ENST00000582721,;PIGS,non_coding_transcript_exon_variant,,ENST00000583631,;PIGS,non_coding_transcript_exon_variant,,ENST00000577594,;PIGS,intron_variant,,ENST00000268758,;RP11-192H23.4,intron_variant,,ENST00000481916,;PIGS,intron_variant,,ENST00000584080,;ALDOC,downstream_gene_variant,,ENST00000582381,;	T	ENST00000308360	Transcript	missense_variant	474/2877	98/1668	33/555	P/Q	cCg/cAg		1		-1	PIGS	HGNC	HGNC:14937	protein_coding	YES	CCDS11235.1	ENSP00000309430	Q96S52		UPI000013D7D9	NM_033198.3	deleterious(0)		2/12		Transmembrane_helices:TMhelix,hmmpanther:PTHR21072,Pfam_domain:PF10510																	MODERATE	1	SNV	1			1										PASS		rs1421876778	.												T	3	4	12	28571125	28571125	G	T	1	0	0	0	0	1	0	0	0	11992	1116	39	1		1	PIGS	17	28571125	Missense_Mutation	SNP	G	C3L-00144_TP	202483	28571125	54686316	1426	5705											
KIAA0100	0	.	GRCh38	chr17	28643289	28643290	+	Frame_Shift_Ins	INS	-	-	A																															gttctgatacgcacttctccINSaaagcacaatgccacatagt																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.270dupT	p.Gly91TrpfsTer14	p.G91Wfs*14	ENST00000528896	4/39	158	124	34	144	144	0	sindel-varindel-pindel	KIAA0100,frameshift_variant,p.Gly91TrpfsTer14,ENST00000528896,NM_014680.3;KIAA0100,5_prime_UTR_variant,,ENST00000544884,;KIAA0100,5_prime_UTR_variant,,ENST00000389003,;KIAA0100,frameshift_variant,p.Trp74LeufsTer38,ENST00000583403,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000577417,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000580882,;KIAA0100,upstream_gene_variant,,ENST00000577580,;KIAA0100,upstream_gene_variant,,ENST00000582901,;KIAA0100,upstream_gene_variant,,ENST00000581267,;KIAA0100,upstream_gene_variant,,ENST00000579253,;	A	ENST00000528896	Transcript	frameshift_variant	345-346/7407	270-271/6708	90-91/2235	-/X	-/T		1		-1	KIAA0100	HGNC	HGNC:28960	protein_coding	YES	CCDS32595.1	ENSP00000436773	Q14667		UPI00004B4130	NM_014680.3			4/39		hmmpanther:PTHR15678,Pfam_domain:PF10344																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	12	28643289	28643289	-	A	1	0	1	1	0	0	0	0	0	8074	603	21	0		0	KIAA0100	17	28643289	Frame_Shift_Ins	INS	-	C3L-00144_TP	72164	28643289	54614152	1427	5706											
MYO18A	0	.	GRCh38	chr17	29094838	29094838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggtgaaccctgcaatgtCcatgtctttttcctggagca	7	13	10	11	0	1	1	0	1	1	0	3	2	3	2	3	2	3	2	3	2	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.4522G>T	p.Asp1508Tyr	p.D1508Y	ENST00000527372	30/42	250	209	41	216	216	0	strelka-varscan-mutect	MYO18A,missense_variant,p.Asp1508Tyr,ENST00000527372,NM_078471.3;MYO18A,missense_variant,p.Asp1508Tyr,ENST00000533112,;MYO18A,missense_variant,p.Asp1508Tyr,ENST00000531253,NM_203318.1;MYO18A,missense_variant,p.Asp1507Tyr,ENST00000628822,;MYO18A,upstream_gene_variant,,ENST00000529578,;MYO18A,upstream_gene_variant,,ENST00000546105,;MYO18A,upstream_gene_variant,,ENST00000531892,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,non_coding_transcript_exon_variant,,ENST00000530557,;MYO18A,intron_variant,,ENST00000533652,;MYO18A,downstream_gene_variant,,ENST00000532143,;MYO18A,upstream_gene_variant,,ENST00000529889,;MYO18A,upstream_gene_variant,,ENST00000531438,;	A	ENST00000527372	Transcript	missense_variant	4703/9992	4522/6165	1508/2054	D/Y	Gac/Tac		1		-1	MYO18A	HGNC	HGNC:31104	protein_coding	YES	CCDS45642.1	ENSP00000437073	Q92614		UPI0000167F32	NM_078471.3	deleterious(0)		30/42		Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF421,Superfamily_domains:SSF90257																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	29094838	29094838	C	A	1	0	0	0	0	1	0	0	0	10066	855	30	2		2	MYO18A	17	29094838	Missense_Mutation	SNP	C	C3L-00144_TP	451549	29094838	54162603	1428	5707											
SSH2	0	.	GRCh38	chr17	29632101	29632101	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttctaccctcttgggaagGggaagagggactgcttgtgt	8	12	14	7	0	2	1	0	0	2	1	2	4	2	4	1	4	2	1	1	4	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3093C>T	p.=	p.P1031P	ENST00000540801	16/16	194	167	27	139	139	0	strelka-varscan-mutect	SSH2,synonymous_variant,p.=,ENST00000269033,NM_033389.3;SSH2,synonymous_variant,p.=,ENST00000540801,NM_001282129.1;SSH2,upstream_gene_variant,,ENST00000577991,;ABHD15-AS1,intron_variant,,ENST00000581474,;	A	ENST00000540801	Transcript	synonymous_variant	3186/4538	3093/4353	1031/1450	P	ccC/ccT		1		-1	SSH2	HGNC	HGNC:30580	protein_coding	YES	CCDS74024.1	ENSP00000444743		F5H527	UPI0002065A97	NM_001282129.1			16/16																			LOW	1	SNV	2			1										PASS		.	.												A	2	1	12	29632101	29632101	G	A	1	0	0	0	0	0	0	0	1	15561	1219	43	3		3	SSH2	17	29632101	Silent	SNP	G	C3L-00144_TP	537263	29632101	53625340	1429	5708											
EFCAB5	0	.	GRCh38	chr17	30080223	30080223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgaacagagtgctctacaGggacatgaaaggaatcaggt	15	7	12	7	0	2	3	1	2	1	1	2	5	2	5	0	3	3	1	0	3	4	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3179G>A	p.Arg1060Lys	p.R1060K	ENST00000394835	16/23	114	92	22	78	78	0	strelka-varscan-mutect	EFCAB5,missense_variant,p.Arg1060Lys,ENST00000394835,NM_198529.3;EFCAB5,missense_variant,p.Arg742Lys,ENST00000419434,;EFCAB5,intron_variant,,ENST00000588978,;	A	ENST00000394835	Transcript	missense_variant	3371/5132	3179/4512	1060/1503	R/K	aGg/aAg		1		1	EFCAB5	HGNC	HGNC:24801	protein_coding	YES	CCDS11254.2	ENSP00000378312	A4FU69		UPI0000E59EF5	NM_198529.3	deleterious(0.05)		16/23		hmmpanther:PTHR31938,hmmpanther:PTHR31938:SF6,Superfamily_domains:SSF55781																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	30080223	30080223	G	A	1	0	0	0	0	1	0	0	0	4772	1000	35	3		3	EFCAB5	17	30080223	Missense_Mutation	SNP	G	C3L-00144_TP	448122	30080223	53177218	1430	5709											
UNC45B	0	.	GRCh38	chr17	35183487	35183487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggtggtgctgctctgcGgggaggatgatgataaggtg	7	10	19	5	1	1	2	0	2	1	0	1	4	1	4	0	6	4	3	0	6	1	1	rs750532284		C3L-00144_TP	C3L-00144_NB	G	G																c.2440G>T	p.Gly814Trp	p.G814W	ENST00000268876	19/20	131	106	25	89	88	1	strelka-varscan-mutect	UNC45B,missense_variant,p.Gly814Trp,ENST00000268876,NM_173167.2;UNC45B,missense_variant,p.Gly812Trp,ENST00000394570,NM_001267052.1,NM_001033576.1;UNC45B,missense_variant,p.Gly733Trp,ENST00000591048,NM_001308281.1;	T	ENST00000268876	Transcript	missense_variant	2537/5679	2440/2796	814/931	G/W	Ggg/Tgg	rs750532284	1		1	UNC45B	HGNC	HGNC:14304	protein_coding	YES	CCDS11292.1	ENSP00000268876	Q8IWX7		UPI0000074455	NM_173167.2	deleterious(0)		19/20		Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		rs750532284	.												T	3	4	12	35183487	35183487	G	T	1	0	0	0	0	1	0	0	0	17513	1116	39	1		1	UNC45B	17	35183487	Missense_Mutation	SNP	G	C3L-00144_TP	5103264	35183487	48073954	1431	5710											
CCL23	0	.	GRCh38	chr17	36013206	36013206	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccttgacaagttcaattcttCctggtcttgatccgtgtgtc	6	16	8	11	1	3	2	1	2	2	0	6	2	5	2	3	1	0	1	3	1	2	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.405G>C	p.Arg135Ser	p.R135S	ENST00000615050	4/4	200	130	70	123	123	0	strelka-varscan-mutect	CCL23,missense_variant,p.Arg135Ser,ENST00000615050,NM_005064.5;CCL23,missense_variant,p.Arg118Ser,ENST00000612516,NM_145898.3;RP11-104J23.2,downstream_gene_variant,,ENST00000617747,;RP11-104J23.1,downstream_gene_variant,,ENST00000617328,;RP11-104J23.1,downstream_gene_variant,,ENST00000619334,;CCL23,3_prime_UTR_variant,,ENST00000613876,;	G	ENST00000615050	Transcript	missense_variant	476/624	405/414	135/137	R/S	agG/agC		1		-1	CCL23	HGNC	HGNC:10622	protein_coding	YES	CCDS11305.1	ENSP00000481357	P55773		UPI000002B480	NM_005064.5	deleterious_low_confidence(0.02)		4/4		hmmpanther:PTHR12015:SF77,hmmpanther:PTHR12015																	MODERATE	1	SNV	1			1										PASS		rs989537125	.												G	3	3	12	36013206	36013206	C	G	1	0	0	0	0	1	0	0	0	2593	854	30	4		4	CCL23	17	36013206	Missense_Mutation	SNP	C	C3L-00144_TP	829719	36013206	47244235	1432	5711											
CCL4L2	0	.	GRCh38	chr17	36211217	36211217	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctagcactctcagcaccaAgtaagtctacttttgcagct	10	12	6	13	0	3	0	1	0	3	0	4	0	3	0	1	0	5	5	1	0	4	5	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.76A>T	p.Met26Leu	p.M26L	ENST00000617405	1/3	478	372	106	353	352	1	strelka-varscan-mutect	CCL4L2,stop_gained,p.Lys26Ter,ENST00000620055,;CCL4L2,missense_variant,p.Met26Leu,ENST00000617416,NM_001291470.1;CCL4L2,missense_variant,p.Met26Leu,ENST00000615418,NM_001291472.1;CCL4L2,missense_variant,p.Met26Leu,ENST00000620732,NM_001291469.1;CCL4L2,missense_variant,p.Met26Leu,ENST00000617405,NM_001291475.1;CCL4L2,missense_variant,p.Met26Leu,ENST00000620098,NM_001291471.1;CCL4L2,missense_variant,p.Met26Leu,ENST00000610565,NM_001291473.1;CCL4L2,missense_variant,p.Thr26Ser,ENST00000613173,NM_001291474.1;CCL4L2,missense_variant,p.Met26Leu,ENST00000620250,;CCL4L2,missense_variant,p.Met26Leu,ENST00000620576,NM_001291468.1;	T	ENST00000617405	Transcript	missense_variant,splice_region_variant	155/846	76/312	26/103	M/L	Atg/Ttg		1		1	CCL4L2	HGNC	HGNC:24066	protein_coding	YES	CCDS77000.1	ENSP00000483330	Q8NHW4		UPI000050BF29	NM_001291475.1	tolerated(0.6)		1/3		Transmembrane_helices:TMhelix,hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF103,Gene3D:2.40.50.40,Superfamily_domains:SSF54117																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	36211217	36211217	A	T	1	0	0	0	0	1	0	0	0	2602	86	3	4		4	CCL4L2	17	36211217	Missense_Mutation	SNP	A	C3L-00144_TP	198011	36211217	47046224	1433	5712											
MYO19	0	.	GRCh38	chr17	36507058	36507058	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggctgagcttattgtggcCcaggcaggggctgcctgcca	5	8	15	13	1	0	1	0	1	0	0	0	1	0	1	4	5	3	4	4	5	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1549G>T	p.Gly517Cys	p.G517C	ENST00000614623	17/26	99	82	17	72	72	0	strelka-varscan-mutect	MYO19,missense_variant,p.Gly517Cys,ENST00000614623,NM_001163735.1;MYO19,intron_variant,,ENST00000610930,NM_025109.5;MYO19,missense_variant,p.Gly517Cys,ENST00000610992,;MYO19,3_prime_UTR_variant,,ENST00000621550,;MYO19,non_coding_transcript_exon_variant,,ENST00000611622,;MYO19,non_coding_transcript_exon_variant,,ENST00000611125,;MYO19,non_coding_transcript_exon_variant,,ENST00000614416,;MYO19,upstream_gene_variant,,ENST00000611794,;MYO19,upstream_gene_variant,,ENST00000620943,;MYO19,downstream_gene_variant,,ENST00000611063,;MYO19,downstream_gene_variant,,ENST00000612097,;MYO19,upstream_gene_variant,,ENST00000610576,;MYO19,downstream_gene_variant,,ENST00000615902,;MYO19,downstream_gene_variant,,ENST00000620413,;	A	ENST00000614623	Transcript	missense_variant	2072/4054	1549/2913	517/970	G/C	Ggc/Tgc		1		-1	MYO19	HGNC	HGNC:26234	protein_coding	YES	CCDS54112.1	ENSP00000479518	Q96H55		UPI000173AA19	NM_001163735.1	deleterious(0.05)		17/26		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF289,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	36507058	36507058	C	A	1	0	0	0	0	1	0	0	0	10068	623	22	2		2	MYO19	17	36507058	Missense_Mutation	SNP	C	C3L-00144_TP	295841	36507058	46750383	1434	5713											
TBC1D3L	0	.	GRCh38	chr17	37978661	37978661	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcagggggccagctggtCctcctgggatatggcacgga	7	6	16	12	1	0	0	0	0	0	0	2	2	2	2	4	6	2	3	4	6	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1459G>T	p.Asp487Tyr	p.D487Y	ENST00000612727	13/13	104	60	44	92	92	0	varscan-mutect	TBC1D3L,missense_variant,p.Asp487Tyr,ENST00000612727,;TBC1D3L,missense_variant,p.Asp487Tyr,ENST00000617678,NM_001291459.1;	A	ENST00000612727	Transcript	missense_variant	1459/2148	1459/1650	487/549	D/Y	Gac/Tac		1		-1	TBC1D3L	HGNC	HGNC:51246	protein_coding	YES	CCDS74043.1	ENSP00000481508	B9A6J9		UPI00019145CA		deleterious(0)		13/13		hmmpanther:PTHR22957:SF233,hmmpanther:PTHR22957																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	37978661	37978661	C	A	1	0	0	0	0	1	0	0	0	16026	855	30	2		2	TBC1D3L	17	37978661	Missense_Mutation	SNP	C	C3L-00144_TP	1471603	37978661	45278780	1435	5714											
TBC1D3L	0	.	GRCh38	chr17	37978733	37978733	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaaccaagggccctctacgtCcaggtccgttgggaggcggg	7	6	16	12	3	1	0	0	0	1	0	3	2	3	1	4	5	2	1	4	5	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1387G>C	p.Asp463His	p.D463H	ENST00000612727	13/13	39	28	11	40	40	0	varscan-mutect	TBC1D3L,missense_variant,p.Asp463His,ENST00000612727,;TBC1D3L,missense_variant,p.Asp463His,ENST00000617678,NM_001291459.1;	G	ENST00000612727	Transcript	missense_variant	1387/2148	1387/1650	463/549	D/H	Gac/Cac		1		-1	TBC1D3L	HGNC	HGNC:51246	protein_coding	YES	CCDS74043.1	ENSP00000481508	B9A6J9		UPI00019145CA		deleterious(0.05)		13/13		hmmpanther:PTHR22957:SF233,hmmpanther:PTHR22957																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	37978733	37978733	C	G	1	0	0	0	0	1	0	0	0	16026	855	30	4		4	TBC1D3L	17	37978733	Missense_Mutation	SNP	C	C3L-00144_TP	72	37978733	45278708	1436	5715											
CACNB1	0	.	GRCh38	chr17	39175298	39175298	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgggccttattccggccccgGttccggttgtcggtcagctc	2	11	13	15	5	1	0	1	0	0	0	5	0	3	0	5	5	1	3	5	5	1	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1692C>T	p.=	p.N564N	ENST00000394303	14/14	303	235	68	187	187	0	strelka-varscan-mutect	CACNB1,synonymous_variant,p.=,ENST00000394303,NM_000723.4;CACNB1,3_prime_UTR_variant,,ENST00000622445,;CACNB1,downstream_gene_variant,,ENST00000344140,NM_199247.2;CACNB1,downstream_gene_variant,,ENST00000394310,NM_199248.2;RP5-906A24.2,intron_variant,,ENST00000579256,;CACNB1,non_coding_transcript_exon_variant,,ENST00000539338,;CACNB1,downstream_gene_variant,,ENST00000582544,;	A	ENST00000394303	Transcript	synonymous_variant	1900/3742	1692/1797	564/598	N	aaC/aaT		1		-1	CACNB1	HGNC	HGNC:1401	protein_coding	YES	CCDS42311.1	ENSP00000377840	Q02641		UPI0000127290	NM_000723.4			14/14		hmmpanther:PTHR11824,hmmpanther:PTHR11824:SF6																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	39175298	39175298	G	A	1	0	0	0	0	0	0	0	1	2240	1252	44	3		3	CACNB1	17	39175298	Silent	SNP	G	C3L-00144_TP	1196565	39175298	44082143	1437	5716											
STARD3	0	.	GRCh38	chr17	39658516	39658516	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taccccaggaagctgaagagGagcgatgtgagtgcttgcgg	10	7	16	8	2	0	3	0	2	0	1	0	6	0	5	2	3	5	2	2	3	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.541G>T	p.Glu181Ter	p.E181*	ENST00000336308	6/15	96	75	21	55	55	0	strelka-varscan-mutect	STARD3,stop_gained,p.Glu181Ter,ENST00000336308,NM_006804.3;STARD3,stop_gained,p.Glu155Ter,ENST00000580611,;STARD3,stop_gained,p.Glu163Ter,ENST00000394250,NM_001165938.1;STARD3,stop_gained,p.Glu181Ter,ENST00000443521,;STARD3,missense_variant,p.Arg176Ser,ENST00000544210,NM_001165937.1;STARD3,downstream_gene_variant,,ENST00000581894,;STARD3,downstream_gene_variant,,ENST00000583419,;STARD3,downstream_gene_variant,,ENST00000577248,;STARD3,downstream_gene_variant,,ENST00000579479,;STARD3,downstream_gene_variant,,ENST00000580331,;STARD3,downstream_gene_variant,,ENST00000583718,;STARD3,non_coding_transcript_exon_variant,,ENST00000578232,;STARD3,non_coding_transcript_exon_variant,,ENST00000582874,;STARD3,downstream_gene_variant,,ENST00000460894,;STARD3,downstream_gene_variant,,ENST00000585214,;STARD3,downstream_gene_variant,,ENST00000578254,;STARD3,upstream_gene_variant,,ENST00000583639,;STARD3,missense_variant,p.Arg158Ser,ENST00000578577,;STARD3,non_coding_transcript_exon_variant,,ENST00000481171,;STARD3,non_coding_transcript_exon_variant,,ENST00000584850,;STARD3,non_coding_transcript_exon_variant,,ENST00000488876,;STARD3,non_coding_transcript_exon_variant,,ENST00000583582,;STARD3,non_coding_transcript_exon_variant,,ENST00000585269,;STARD3,non_coding_transcript_exon_variant,,ENST00000484773,;STARD3,upstream_gene_variant,,ENST00000471896,;STARD3,upstream_gene_variant,,ENST00000578384,;STARD3,upstream_gene_variant,,ENST00000578686,;STARD3,upstream_gene_variant,,ENST00000583884,;STARD3,downstream_gene_variant,,ENST00000580551,;	T	ENST00000336308	Transcript	stop_gained	759/2132	541/1338	181/445	E/*	Gag/Tag		1		1	STARD3	HGNC	HGNC:17579	protein_coding	YES	CCDS11341.1	ENSP00000337446	Q14849		UPI000013CE10	NM_006804.3			6/15		PROSITE_profiles:PS51439,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF51,Pfam_domain:PF10457																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	39658516	39658516	G	T	1	0	0	0	0	0	1	0	0	15632	1175	41	2		2	STARD3	17	39658516	Nonsense_Mutation	SNP	G	C3L-00144_TP	483218	39658516	43598925	1438	5717											
ORMDL3	0	.	GRCh38	chr17	39922551	39922551	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaaggggctgcactctCagtacttattgattccaaaa	12	10	11	8	0	1	1	1	1	1	0	3	2	2	2	1	4	2	3	1	4	5	4			C3L-00144_TP	C3L-00144_NB	C	C																c.461G>T	p.Ter154LeuextTer39	p.*154Lext*39	ENST00000394169	6/6	80	65	15	79	79	0	strelka-varscan-mutect	ORMDL3,stop_lost,p.Ter154LeuextTer39,ENST00000394169,;ORMDL3,stop_lost,p.Ter154LeuextTer39,ENST00000304046,NM_001320803.1,NM_139280.2;ORMDL3,stop_lost,p.Ter154LeuextTer39,ENST00000579695,NM_001320802.1;ORMDL3,stop_lost,p.Ter138LeuextTer?,ENST00000584220,;GSDMB,upstream_gene_variant,,ENST00000418519,NM_001165958.1;GSDMB,upstream_gene_variant,,ENST00000520542,NM_001165959.1;GSDMB,upstream_gene_variant,,ENST00000309481,NM_001042471.1;ORMDL3,downstream_gene_variant,,ENST00000584000,;ORMDL3,downstream_gene_variant,,ENST00000582052,;ORMDL3,upstream_gene_variant,,ENST00000579287,;ORMDL3,stop_lost,p.Ter103LeuextTer64,ENST00000581284,;GSDMB,upstream_gene_variant,,ENST00000477054,;	A	ENST00000394169	Transcript	stop_lost	1956/2230	461/462	154/153	*/L	tGa/tTa	COSM382014,COSM5204026	1		-1	ORMDL3	HGNC	HGNC:16038	protein_coding	YES	CCDS11355.1	ENSP00000377724	Q8N138	A0A024R1W6	UPI0000035F64				6/6													1,1						HIGH	1	SNV	2		1,1	1										PASS		.	.												A	4	1	12	39922551	39922551	C	A	1	0	0	0	0	0	0	0	0	11337	840	29	2		2	ORMDL3	17	39922551	Nonstop_Mutation	SNP	C	C3L-00144_TP	264035	39922551	43334890	1439	5718											
KRT20	0	.	GRCh38	chr17	40880234	40880234	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccacattgacagtgttgcCcagatgcttgtgtaggccat	8	12	10	11	0	0	2	0	1	0	1	1	2	1	2	3	1	2	3	3	1	1	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.658G>T	p.Gly220Cys	p.G220C	ENST00000167588	4/8	101	85	16	63	63	0	strelka-varscan-mutect	KRT20,missense_variant,p.Gly220Cys,ENST00000167588,NM_019010.2;KRT20,downstream_gene_variant,,ENST00000482529,;	A	ENST00000167588	Transcript	missense_variant	700/1737	658/1275	220/424	G/C	Ggc/Tgc		1		-1	KRT20	HGNC	HGNC:20412	protein_coding	YES	CCDS11379.1	ENSP00000167588	P35900		UPI000012DAF1	NM_019010.2	deleterious(0)		4/8		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF167,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	40880234	40880234	C	A	1	0	0	0	0	1	0	0	0	8340	623	22	2		2	KRT20	17	40880234	Missense_Mutation	SNP	C	C3L-00144_TP	957683	40880234	42377207	1440	5719											
KRTAP4-9	0	.	GRCh38	chr17	41105642	41105642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctaccgccccagctgttGtgtgtccagctgctgcaggc	4	10	12	15	1	0	0	0	0	0	0	1	0	1	0	4	1	6	6	4	1	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.254G>T	p.Cys85Phe	p.C85F	ENST00000391415	1/1	405	340	65	283	282	1	strelka-varscan-mutect	KRTAP4-9,missense_variant,p.Cys85Phe,ENST00000391415,NM_001146041.1;KRTAP4-9,missense_variant,p.Cys70Phe,ENST00000617453,;KRTAP4-7,intron_variant,,ENST00000612231,;KRTAP4-16,upstream_gene_variant,,ENST00000440582,;	T	ENST00000391415	Transcript	missense_variant	311/1157	254/633	85/210	C/F	tGt/tTt		1		1	KRTAP4-9	HGNC	HGNC:18910	protein_coding	YES	CCDS54124.1	ENSP00000375234	Q9BYQ8		UPI000021D2D3	NM_001146041.1	deleterious(0.01)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF1,Pfam_domain:PF01500																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	12	41105642	41105642	G	T	1	0	0	0	0	1	0	0	0	8452	1377	48	2		2	KRTAP4-9	17	41105642	Missense_Mutation	SNP	G	C3L-00144_TP	225408	41105642	42151799	1441	5720											
KRTAP9-2	0	.	GRCh38	chr17	41227145	41227145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgcttccagcccacctGtgtgtccagctgctgccagc	5	10	9	17	0	0	0	0	0	0	0	2	0	2	0	5	0	6	3	5	0	0	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.491G>T	p.Cys164Phe	p.C164F	ENST00000377721	1/1	177	122	55	167	167	0	strelka-varscan-mutect	KRTAP9-2,missense_variant,p.Cys164Phe,ENST00000377721,NM_031961.2;	T	ENST00000377721	Transcript	missense_variant	498/1005	491/525	164/174	C/F	tGt/tTt		1		1	KRTAP9-2	HGNC	HGNC:16926	protein_coding	YES	CCDS32651.1	ENSP00000366950	Q9BYQ4		UPI000013CE13	NM_031961.2	deleterious(0)		1/1		Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF56																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	12	41227145	41227145	G	T	1	0	0	0	0	1	0	0	0	8470	1377	48	2		2	KRTAP9-2	17	41227145	Missense_Mutation	SNP	G	C3L-00144_TP	121503	41227145	42030296	1442	5721											
KRTAP16-1	0	.	GRCh38	chr17	41308302	41308302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagacagctggtgagcaggGgctgggctcagagcagatgg	10	5	18	8	0	1	4	1	1	0	3	1	4	1	4	0	5	3	5	0	5	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.952C>A	p.Pro318Thr	p.P318T	ENST00000391352	1/1	142	113	29	122	122	0	strelka-varscan-mutect	KRTAP16-1,missense_variant,p.Pro318Thr,ENST00000391352,NM_001146182.1;	T	ENST00000391352	Transcript	missense_variant	952/1554	952/1554	318/517	P/T	Ccc/Acc		1		-1	KRTAP16-1	HGNC	HGNC:18916	protein_coding	YES	CCDS56032.1	ENSP00000375147	A8MUX0		UPI000015FD61	NM_001146182.1	tolerated(0.65)		1/1		Pfam_domain:PF13885,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		rs1352668688	.												T	3	4	12	41308302	41308302	G	T	1	0	0	0	0	1	0	0	0	8410	1232	43	2		2	KRTAP16-1	17	41308302	Missense_Mutation	SNP	G	C3L-00144_TP	81157	41308302	41949139	1443	5722											
KRT13	0	.	GRCh38	chr17	41502575	41502575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactccgtctctgccaccGtgttctccagccccgctttc	3	11	8	19	3	2	0	0	0	2	0	6	0	3	0	6	1	2	3	6	1	0	2	rs759178223		C3L-00144_TP	C3L-00144_NB	G	G																c.1043C>T	p.Thr348Met	p.T348M	ENST00000246635	6/8	570	468	102	427	427	0	strelka-varscan-mutect	KRT13,missense_variant,p.Thr348Met,ENST00000246635,NM_153490.2;KRT13,missense_variant,p.Thr348Met,ENST00000336861,NM_002274.3;KRT13,missense_variant,p.Thr348Met,ENST00000587544,;KRT13,downstream_gene_variant,,ENST00000590425,;KRT13,downstream_gene_variant,,ENST00000587435,;AC019349.5,downstream_gene_variant,,ENST00000411759,;KRT13,downstream_gene_variant,,ENST00000587118,;KRT13,upstream_gene_variant,,ENST00000475217,;KRT13,3_prime_UTR_variant,,ENST00000464634,;KRT13,non_coding_transcript_exon_variant,,ENST00000468313,;	A	ENST00000246635	Transcript	missense_variant	1090/1699	1043/1377	348/458	T/M	aCg/aTg	rs759178223,COSM3989015	1		-1	KRT13	HGNC	HGNC:6415	protein_coding	YES	CCDS11396.1	ENSP00000246635	P13646		UPI000013CBF6	NM_153490.2	deleterious(0.01)		6/8		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF121,SMART_domains:SM01391,Superfamily_domains:SSF64593											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs759178223	.												A	3	1	12	41502575	41502575	G	A	1	0	0	0	0	1	0	0	0	8332	1145	40	1		1	KRT13	17	41502575	Missense_Mutation	SNP	G	C3L-00144_TP	194273	41502575	41754866	1444	5723											
HSD17B1	0	.	GRCh38	chr17	42553196	42553196	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccctggcatgccctcCgggatccctggagacgttgc	4	7	14	16	3	0	1	0	0	0	1	2	3	2	2	5	4	2	2	5	4	0	1	rs61738807		C3L-00144_TP	C3L-00144_NB	C	C																c.170C>A	p.Pro57Gln	p.P57Q	ENST00000585807	2/6	295	201	94	260	260	0	strelka-varscan-mutect	HSD17B1,missense_variant,p.Pro57Gln,ENST00000585807,NM_000413.2;HSD17B1,missense_variant,p.Pro57Gln,ENST00000225929,;RP11-400F19.6,non_coding_transcript_exon_variant,,ENST00000590513,;RP11-400F19.8,intron_variant,,ENST00000585572,;HSD17B1,missense_variant,p.Pro57Gln,ENST00000590299,;HSD17B1,non_coding_transcript_exon_variant,,ENST00000593215,;HSD17B1,non_coding_transcript_exon_variant,,ENST00000587280,;HSD17B1P1,downstream_gene_variant,,ENST00000590052,;	A	ENST00000585807	Transcript	missense_variant	3890/4982	170/987	57/328	P/Q	cCg/cAg	rs61738807,COSM4066578	1		1	HSD17B1	HGNC	HGNC:5210	protein_coding	YES	CCDS11428.1	ENSP00000466799	P14061		UPI00001AE658	NM_000413.2	tolerated(0.11)		2/6		hmmpanther:PTHR24322:SF577,hmmpanther:PTHR24322,Gene3D:3.40.50.720,Pfam_domain:PF00106,PIRSF_domain:PIRSF000095,Superfamily_domains:SSF51735											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs61738807	.												A	3	1	12	42553196	42553196	C	A	1	0	0	0	0	1	0	0	0	7273	652	23	1		1	HSD17B1	17	42553196	Missense_Mutation	SNP	C	C3L-00144_TP	1050621	42553196	40704245	1445	5724											
VAT1	0	.	GRCh38	chr17	43022059	43022059	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccatgaggtctgcgaagttGagcccgcaggcccgcagacg	8	5	15	13	4	1	3	0	2	1	1	1	4	1	3	3	2	2	3	3	2	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.264C>G	p.=	p.L88L	ENST00000355653	1/6	449	332	117	324	324	0	strelka-varscan-mutect	VAT1,synonymous_variant,p.=,ENST00000355653,NM_006373.3;VAT1,synonymous_variant,p.=,ENST00000587062,;VAT1,intron_variant,,ENST00000587173,;VAT1,intron_variant,,ENST00000590924,;RND2,upstream_gene_variant,,ENST00000587250,NM_005440.4;VAT1,upstream_gene_variant,,ENST00000420567,;VAT1,upstream_gene_variant,,ENST00000587147,;VAT1,upstream_gene_variant,,ENST00000589709,;VAT1,upstream_gene_variant,,ENST00000589828,;RND2,upstream_gene_variant,,ENST00000587117,;	C	ENST00000355653	Transcript	synonymous_variant	360/2734	264/1182	88/393	L	ctC/ctG		1		-1	VAT1	HGNC	HGNC:16919	protein_coding	YES	CCDS11451.1	ENSP00000347872	Q99536	A0A024R1Z6	UPI000006DA93	NM_006373.3			1/6		Gene3D:3.90.180.10,Pfam_domain:PF08240,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF503,SMART_domains:SM00829,Superfamily_domains:SSF50129																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	12	43022059	43022059	G	C	1	0	0	0	0	0	0	0	1	17674	1277	45	4		4	VAT1	17	43022059	Silent	SNP	G	C3L-00144_TP	468863	43022059	40235382	1446	5725											
CD300LG	0	.	GRCh38	chr17	43848859	43848859	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgaaaaacggggccccgaTgagtctttactgatctctct	9	11	10	11	3	3	2	0	2	3	0	5	4	3	2	2	2	2	0	2	2	3	2	rs367773909		C3L-00144_TP	C3L-00144_NB	T	T																c.345T>A	p.Asp115Glu	p.D115E	ENST00000317310	2/7	157	124	33	171	171	0	strelka-varscan-mutect	CD300LG,missense_variant,p.Asp115Glu,ENST00000317310,NM_145273.3;CD300LG,missense_variant,p.Asp115Glu,ENST00000588884,;CD300LG,missense_variant,p.Asp115Glu,ENST00000539718,NM_001168322.1;CD300LG,missense_variant,p.Asp115Glu,ENST00000377203,NM_001168323.1;CD300LG,missense_variant,p.Asp115Glu,ENST00000293396,NM_001168324.1;CD300LG,missense_variant,p.Asp115Glu,ENST00000586233,;	A	ENST00000317310	Transcript	missense_variant	386/2758	345/999	115/332	D/E	gaT/gaA	rs367773909	1		1	CD300LG	HGNC	HGNC:30455	protein_coding	YES	CCDS11470.1	ENSP00000321005	Q6UXG3		UPI000013E104	NM_145273.3	deleterious(0.04)		2/7		PROSITE_profiles:PS50835,hmmpanther:PTHR11860:SF22,hmmpanther:PTHR11860,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs367773909	.												A	3	1	12	43848859	43848859	T	A	1	0	0	0	0	1	0	0	0	2706	1461	51	4		4	CD300LG	17	43848859	Missense_Mutation	SNP	T	C3L-00144_TP	826800	43848859	39408582	1447	5726											
MPP2	0	.	GRCh38	chr17	43881488	43881488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggcatcatcctggtttacGatctggagcaagtccccggc	7	11	11	12	2	2	0	1	0	1	0	4	2	4	1	3	4	2	3	3	4	2	3	rs76832034		C3L-00144_TP	C3L-00144_NB	G	G																c.918C>T	p.=	p.I306I	ENST00000518766	7/13	308	285	23	203	203	0	strelka-varscan-mutect	MPP2,synonymous_variant,p.=,ENST00000612133,NM_001278381.1;MPP2,synonymous_variant,p.=,ENST00000625880,;MPP2,synonymous_variant,p.=,ENST00000269095,NM_005374.4;MPP2,synonymous_variant,p.=,ENST00000536246,NM_001278375.1;MPP2,synonymous_variant,p.=,ENST00000622681,NM_001278371.1;MPP2,synonymous_variant,p.=,ENST00000377184,NM_001278376.2;MPP2,synonymous_variant,p.=,ENST00000461854,NM_001278372.1;MPP2,synonymous_variant,p.=,ENST00000523501,NM_001278373.1;MPP2,synonymous_variant,p.=,ENST00000520305,NM_001278374.1;MPP2,synonymous_variant,p.=,ENST00000518766,NM_001278370.1;MPP2,downstream_gene_variant,,ENST00000523220,;MPP2,downstream_gene_variant,,ENST00000473246,;MPP2,downstream_gene_variant,,ENST00000520406,;MPP2,downstream_gene_variant,,ENST00000524294,;MPP2,downstream_gene_variant,,ENST00000522172,;MPP2,downstream_gene_variant,,ENST00000523934,;MPP2,downstream_gene_variant,,ENST00000523762,;MPP2,downstream_gene_variant,,ENST00000521178,;MPP2,downstream_gene_variant,,ENST00000520241,;MPP2,downstream_gene_variant,,ENST00000520319,;	A	ENST00000518766	Transcript	synonymous_variant	975/1896	918/1794	306/597	I	atC/atT	rs76832034	1		-1	MPP2	HGNC	HGNC:7220	protein_coding	YES	CCDS62210.1	ENSP00000428182		A0A0C4DH75	UPI0001914C39	NM_001278370.1			7/13		PROSITE_profiles:PS50002,hmmpanther:PTHR23122:SF35,hmmpanther:PTHR23122,Pfam_domain:PF07653,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044																	LOW	1	SNV	2			1										PASS		rs76832034	.												A	2	1	12	43881488	43881488	G	A	1	0	0	0	0	0	0	0	1	9700	1048	37	1		1	MPP2	17	43881488	Silent	SNP	G	C3L-00144_TP	32629	43881488	39375953	1448	5727											
SLC4A1	0	.	GRCh38	chr17	44251194	44251194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcctgaagatgagcggcaGcaggacgcgccgcagcggca	9	4	16	12	5	0	3	0	2	0	1	1	4	1	4	2	3	3	5	2	3	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2620C>A	p.Leu874Met	p.L874M	ENST00000262418	19/20	521	371	150	361	359	2	strelka-varscan-mutect	SLC4A1,missense_variant,p.Leu874Met,ENST00000262418,NM_000342.3;SLC4A1,missense_variant,p.Leu508Met,ENST00000399246,;SLC4A1,upstream_gene_variant,,ENST00000631130,;	T	ENST00000262418	Transcript	missense_variant	2776/4965	2620/2736	874/911	L/M	Ctg/Atg		1		-1	SLC4A1	HGNC	HGNC:11027	protein_coding	YES	CCDS11481.1	ENSP00000262418	P02730		UPI00000375B8	NM_000342.3	tolerated(0.16)		19/20		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00834,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	44251194	44251194	G	T	1	0	0	0	0	1	0	0	0	14927	962	34	2		2	SLC4A1	17	44251194	Missense_Mutation	SNP	G	C3L-00144_TP	369706	44251194	39006247	1449	5728											
ITGA2B	0	.	GRCh38	chr17	44377749	44377749	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacacagcaccaccctggtCtcattctccttcttctgatt	7	14	4	16	0	5	1	2	1	4	0	7	1	5	1	3	1	1	1	3	1	0	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2136G>A	p.=	p.E712E	ENST00000262407	21/30	556	459	97	426	425	1	strelka-varscan-mutect	ITGA2B,synonymous_variant,p.=,ENST00000262407,NM_000419.3;ITGA2B,upstream_gene_variant,,ENST00000587295,;ITGA2B,upstream_gene_variant,,ENST00000588098,;ITGA2B,non_coding_transcript_exon_variant,,ENST00000592462,;ITGA2B,downstream_gene_variant,,ENST00000592226,;	T	ENST00000262407	Transcript	synonymous_variant	2168/3333	2136/3120	712/1039	E	gaG/gaA		1		-1	ITGA2B	HGNC	HGNC:6138	protein_coding	YES	CCDS32665.1	ENSP00000262407	P08514		UPI00001868B8	NM_000419.3			21/30		hmmpanther:PTHR23220:SF73,hmmpanther:PTHR23220,Pfam_domain:PF08441,Gene3D:2.60.40.1510,Superfamily_domains:SSF69179																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	44377749	44377749	C	T	1	0	0	0	0	0	0	0	1	7783	912	32	3		3	ITGA2B	17	44377749	Silent	SNP	C	C3L-00144_TP	126555	44377749	38879692	1450	5729											
ADAM11	0	.	GRCh38	chr17	44769747	44769747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcccaggtgagtttcgtCatcccagccttcaactcaaa	9	10	8	14	1	3	1	3	1	0	0	5	1	4	1	3	2	2	1	3	2	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.267C>T	p.=	p.V89V	ENST00000200557	3/27	252	205	47	188	188	0	strelka-varscan-mutect	ADAM11,synonymous_variant,p.=,ENST00000200557,NM_001318933.1,NM_002390.4;ADAM11,5_prime_UTR_variant,,ENST00000535346,;ADAM11,synonymous_variant,p.=,ENST00000355638,;ADAM11,upstream_gene_variant,,ENST00000587773,;	T	ENST00000200557	Transcript	synonymous_variant	436/4571	267/2310	89/769	V	gtC/gtT		1		1	ADAM11	HGNC	HGNC:189	protein_coding	YES	CCDS11486.1	ENSP00000200557	O75078		UPI000013C629	NM_001318933.1,NM_002390.4			3/27		Pfam_domain:PF01562,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF114																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	44769747	44769747	C	T	1	0	0	0	0	0	0	0	1	279	813	29	3		3	ADAM11	17	44769747	Silent	SNP	C	C3L-00144_TP	391998	44769747	38487694	1451	5730											
MYL4	0	.	GRCh38	chr17	47219990	47219990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgcggggatgtactgcggGccctgggccagaaccctacc	7	6	15	13	2	0	1	0	0	0	1	0	2	0	2	4	4	5	1	4	4	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.250G>T	p.Ala84Ser	p.A84S	ENST00000354968	4/8	299	234	65	194	194	0	strelka-varscan-mutect	MYL4,missense_variant,p.Ala84Ser,ENST00000354968,NM_001002841.1;MYL4,missense_variant,p.Ala84Ser,ENST00000393450,NM_002476.2;MYL4,missense_variant,p.Ala84Ser,ENST00000572316,;MYL4,missense_variant,p.Ala84Ser,ENST00000536623,;MYL4,missense_variant,p.Ala84Ser,ENST00000576874,;MYL4,missense_variant,p.Ala115Ser,ENST00000572303,;MYL4,upstream_gene_variant,,ENST00000570671,;MYL4,missense_variant,p.Ala84Ser,ENST00000573747,;MYL4,3_prime_UTR_variant,,ENST00000571981,;MYL4,3_prime_UTR_variant,,ENST00000570772,;	T	ENST00000354968	Transcript	missense_variant	378/907	250/594	84/197	A/S	Gcc/Tcc		1		1	MYL4	HGNC	HGNC:7585	protein_coding	YES	CCDS11510.1	ENSP00000347055	P12829		UPI000013C60D	NM_001002841.1	deleterious(0.02)		4/8		Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR23048,hmmpanther:PTHR23048:SF1,Superfamily_domains:SSF47473																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	47219990	47219990	G	T	1	0	0	0	0	1	0	0	0	10049	1203	42	2		2	MYL4	17	47219990	Missense_Mutation	SNP	G	C3L-00144_TP	2450243	47219990	36037451	1452	5731											
NFE2L1	0	.	GRCh38	chr17	48056514	48056514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgagatggaggcgagcaGgacacctgggcaggcgaggg	9	3	20	9	3	0	1	0	0	0	1	0	6	0	3	1	6	2	2	1	6	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.639G>T	p.Gln213His	p.Q213H	ENST00000362042	3/6	417	343	74	279	277	2	strelka-varscan-mutect	NFE2L1,missense_variant,p.Gln213His,ENST00000362042,NM_003204.2;NFE2L1,missense_variant,p.Gln202His,ENST00000361665,;NFE2L1,missense_variant,p.Gln213His,ENST00000357480,;NFE2L1,missense_variant,p.Gln213His,ENST00000585291,;NFE2L1,missense_variant,p.Gln87His,ENST00000536222,;NFE2L1,missense_variant,p.Gln44His,ENST00000583378,;NFE2L1,missense_variant,p.Gln55His,ENST00000582155,;NFE2L1,missense_variant,p.Gln76His,ENST00000577431,;NFE2L1,missense_variant,p.Gln87His,ENST00000580050,;NFE2L1,5_prime_UTR_variant,,ENST00000584634,;NFE2L1,5_prime_UTR_variant,,ENST00000580037,;NFE2L1,5_prime_UTR_variant,,ENST00000577411,;NFE2L1,5_prime_UTR_variant,,ENST00000583210,;NFE2L1,upstream_gene_variant,,ENST00000581319,;NFE2L1,downstream_gene_variant,,ENST00000579537,;RP5-890E16.4,downstream_gene_variant,,ENST00000583349,;	T	ENST00000362042	Transcript	missense_variant	1255/4774	639/2319	213/772	Q/H	caG/caT		1		1	NFE2L1	HGNC	HGNC:7781	protein_coding	YES	CCDS11524.1	ENSP00000354855	Q14494		UPI000012FFCF	NM_003204.2	tolerated(0.43)		3/6		hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF31																	MODERATE	1	SNV	1			1										PASS		rs1379352022	.												T	3	4	12	48056514	48056514	G	T	1	0	0	0	0	1	0	0	0	10404	991	35	2		2	NFE2L1	17	48056514	Missense_Mutation	SNP	G	C3L-00144_TP	836524	48056514	35200927	1453	5732											
HOXB3	0	.	GRCh38	chr17	48555586	48555586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atatatattcacatcgagccCcagagcgagcggcaggcgac	12	6	11	12	4	1	1	1	0	0	1	2	4	1	1	2	2	3	1	2	2	3	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.82G>T	p.Gly28Trp	p.G28W	ENST00000465120	4/5	478	375	103	322	320	2	strelka-varscan-mutect	HOXB3,missense_variant,p.Gly28Trp,ENST00000465120,;HOXB3,5_prime_UTR_variant,,ENST00000311626,NM_002146.4;HOXB3,5_prime_UTR_variant,,ENST00000498678,;HOXB3,5_prime_UTR_variant,,ENST00000472863,;HOXB3,5_prime_UTR_variant,,ENST00000489475,;HOXB3,5_prime_UTR_variant,,ENST00000460160,;HOXB3,5_prime_UTR_variant,,ENST00000471459,;HOXB3,intron_variant,,ENST00000476342,;HOXB3,intron_variant,,ENST00000490677,;HOXB3,upstream_gene_variant,,ENST00000470495,;HOXB-AS3,intron_variant,,ENST00000465846,;HOXB-AS2,upstream_gene_variant,,ENST00000464382,;HOXB-AS1,downstream_gene_variant,,ENST00000435312,;HOXB-AS1,downstream_gene_variant,,ENST00000502764,;HOXB-AS1,downstream_gene_variant,,ENST00000508688,;HOXB3,non_coding_transcript_exon_variant,,ENST00000478644,;	A	ENST00000465120	Transcript	missense_variant	332/943	82/360	28/119	G/W	Ggg/Tgg		1		-1	HOXB3	HGNC	HGNC:5114	protein_coding			ENSP00000446783		F8W1L2	UPI00020CDF89		deleterious_low_confidence(0)		4/5																			MODERATE		SNV	3			1										PASS		.	.												A	3	1	12	48555586	48555586	C	A	1	0	0	0	0	1	0	0	0	7196	623	22	2		2	HOXB3	17	48555586	Missense_Mutation	SNP	C	C3L-00144_TP	499072	48555586	34701855	1454	5733											
HOXB3	0	.	GRCh38	chr17	48573859	48573859	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgcctctcgcctcctctCgcccgaactctgcagatccc	4	10	7	20	4	3	1	0	0	3	1	7	2	5	1	5	0	3	1	5	0	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.27G>T	p.=	p.A9A	ENST00000490677	1/2	381	328	53	248	248	0	strelka-varscan-mutect	HOXB3,synonymous_variant,p.=,ENST00000490677,;HOXB3,synonymous_variant,p.=,ENST00000465120,;HOXB3,5_prime_UTR_variant,,ENST00000311626,NM_002146.4;HOXB3,5_prime_UTR_variant,,ENST00000498678,;HOXB3,5_prime_UTR_variant,,ENST00000489475,;HOXB3,5_prime_UTR_variant,,ENST00000460160,;HOXB3,intron_variant,,ENST00000472863,;HOXB3,intron_variant,,ENST00000476342,;HOXB4,downstream_gene_variant,,ENST00000332503,NM_024015.4;HOXB-AS3,intron_variant,,ENST00000465846,;HOXB3,downstream_gene_variant,,ENST00000552000,;HOXB3,downstream_gene_variant,,ENST00000464266,;	A	ENST00000490677	Transcript	synonymous_variant	165/1109	27/894	9/297	A	gcG/gcT		1		-1	HOXB3	HGNC	HGNC:5114	protein_coding			ENSP00000449977		F8VXG0	UPI00018921FB				1/2																			LOW		SNV	1			1										PASS		rs1333549721	.												A	2	1	12	48573859	48573859	C	A	1	0	0	0	0	0	0	0	1	7196	871	31	1		1	HOXB3	17	48573859	Silent	SNP	C	C3L-00144_TP	18273	48573859	34683582	1455	5734											
HOXB8	0	.	GRCh38	chr17	48614345	48614345	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcggagccctcggcctcCtcgcccaggccgctggcggc	2	6	14	19	5	0	0	0	0	0	0	4	1	1	1	5	5	2	2	5	5	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.360G>T	p.Glu120Asp	p.E120D	ENST00000239144	1/2	95	71	24	68	68	0	strelka-varscan-mutect	HOXB8,missense_variant,p.Glu120Asp,ENST00000239144,NM_024016.3;HOXB8,missense_variant,p.Glu120Asp,ENST00000576562,;HOXB7,upstream_gene_variant,,ENST00000239165,NM_004502.3;HOXB8,upstream_gene_variant,,ENST00000498634,;HOXB7,intron_variant,,ENST00000567101,;	A	ENST00000239144	Transcript	missense_variant	595/1823	360/732	120/243	E/D	gaG/gaT		1		-1	HOXB8	HGNC	HGNC:5119	protein_coding	YES	CCDS11533.1	ENSP00000239144	P17481		UPI000012CF63	NM_024016.3	tolerated(0.3)		1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF46,Low_complexity_(Seg):seg																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	12	48614345	48614345	C	A	1	0	0	0	0	1	0	0	0	7201	680	24	2		2	HOXB8	17	48614345	Missense_Mutation	SNP	C	C3L-00144_TP	40486	48614345	34643096	1456	5735											
TTLL6	0	.	GRCh38	chr17	48804860	48804860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctcacaaaagccagcgCgacggtttcttttggatctt	8	13	8	12	3	4	0	1	0	3	0	5	2	4	1	1	2	2	1	1	2	2	4	rs866808413		C3L-00144_TP	C3L-00144_NB	C	C																c.235G>C	p.Ala79Pro	p.A79P	ENST00000393382	2/16	712	598	114	540	540	0	strelka-varscan-mutect	TTLL6,missense_variant,p.Ala79Pro,ENST00000393382,NM_001130918.1;TTLL6,downstream_gene_variant,,ENST00000470462,;TTLL6,missense_variant,p.Ala81Pro,ENST00000376681,;TTLL6,3_prime_UTR_variant,,ENST00000456415,;TTLL6,non_coding_transcript_exon_variant,,ENST00000490027,;TTLL6,upstream_gene_variant,,ENST00000509809,;	G	ENST00000393382	Transcript	missense_variant	377/3551	235/2676	79/891	A/P	Gcg/Ccg	rs866808413,COSM5149441	1		-1	TTLL6	HGNC	HGNC:26664	protein_coding	YES	CCDS45724.1	ENSP00000377043	Q8N841		UPI00017BCE80	NM_001130918.1	deleterious(0.01)		2/16		hmmpanther:PTHR12241:SF96,hmmpanther:PTHR12241											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs866808413	.												G	3	3	12	48804860	48804860	C	G	1	0	0	0	0	1	0	0	0	17242	768	27	4		4	TTLL6	17	48804860	Missense_Mutation	SNP	C	C3L-00144_TP	190515	48804860	34452581	1457	5736											
UBE2Z	0	.	GRCh38	chr17	48926976	48926976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccacaggacccttttggaGagaagcggggccactttgac	9	7	12	13	1	0	2	0	1	0	1	0	5	0	4	4	4	1	0	4	4	1	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.907G>A	p.Glu303Lys	p.E303K	ENST00000360943	7/7	122	102	20	86	86	0	strelka-varscan-mutect	UBE2Z,missense_variant,p.Glu303Lys,ENST00000360943,NM_023079.4;SNF8,downstream_gene_variant,,ENST00000502492,NM_007241.2;SNF8,downstream_gene_variant,,ENST00000290330,;UBE2Z,downstream_gene_variant,,ENST00000514948,;AC091133.1,upstream_gene_variant,,ENST00000435491,;SNF8,downstream_gene_variant,,ENST00000514089,;UBE2Z,3_prime_UTR_variant,,ENST00000506498,;UBE2Z,3_prime_UTR_variant,,ENST00000504684,;UBE2Z,non_coding_transcript_exon_variant,,ENST00000513342,;UBE2Z,non_coding_transcript_exon_variant,,ENST00000506271,;SNF8,downstream_gene_variant,,ENST00000504000,;SNF8,downstream_gene_variant,,ENST00000510558,;SNF8,downstream_gene_variant,,ENST00000514929,;SNF8,downstream_gene_variant,,ENST00000507302,;SNF8,downstream_gene_variant,,ENST00000576353,;SNF8,downstream_gene_variant,,ENST00000515572,;SNF8,downstream_gene_variant,,ENST00000509989,;SNF8,downstream_gene_variant,,ENST00000573795,;SNF8,downstream_gene_variant,,ENST00000509995,;	A	ENST00000360943	Transcript	missense_variant	1042/3122	907/1065	303/354	E/K	Gag/Aag		1		1	UBE2Z	HGNC	HGNC:25847	protein_coding	YES	CCDS11540.2	ENSP00000354201	Q9H832		UPI00005A774B	NM_023079.4	tolerated(0.1)		7/7		Gene3D:3.10.110.10,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	48926976	48926976	G	A	1	0	0	0	0	1	0	0	0	17401	943	33	3		3	UBE2Z	17	48926976	Missense_Mutation	SNP	G	C3L-00144_TP	122116	48926976	34330465	1458	5737											
ABI3	0	.	GRCh38	chr17	49222562	49222562	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgcagtggtgacactGtacccatacaccagccagaa	11	7	9	14	0	0	2	0	1	0	1	0	2	0	2	4	1	5	2	4	1	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.948G>T	p.=	p.L316L	ENST00000225941	8/8	149	106	43	113	113	0	strelka-varscan-mutect	ABI3,synonymous_variant,p.=,ENST00000225941,NM_016428.2;ABI3,synonymous_variant,p.=,ENST00000419580,NM_001135186.1;ABI3,synonymous_variant,p.=,ENST00000571035,;ABI3,3_prime_UTR_variant,,ENST00000573347,;PHOSPHO1,downstream_gene_variant,,ENST00000413580,NM_001143804.1;PHOSPHO1,downstream_gene_variant,,ENST00000310544,NM_178500.3;PHOSPHO1,downstream_gene_variant,,ENST00000514112,;PHOSPHO1,downstream_gene_variant,,ENST00000511066,;PHOSPHO1,downstream_gene_variant,,ENST00000503902,;PHOSPHO1,downstream_gene_variant,,ENST00000512250,;PHOSPHO1,downstream_gene_variant,,ENST00000574638,;	T	ENST00000225941	Transcript	synonymous_variant	1446/2109	948/1101	316/366	L	ctG/ctT		1		1	ABI3	HGNC	HGNC:29859	protein_coding	YES	CCDS11546.1	ENSP00000225941	Q9P2A4		UPI000013C888	NM_016428.2			8/8		PROSITE_profiles:PS50002,hmmpanther:PTHR10460:SF7,hmmpanther:PTHR10460,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	49222562	49222562	G	T	1	0	0	0	0	0	0	0	1	100	1364	48	2		2	ABI3	17	49222562	Silent	SNP	G	C3L-00144_TP	295586	49222562	34034879	1459	5738											
SPOP	0	.	GRCh38	chr17	49611448	49611448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttgacagaatcttgcaCaacactcacctgtgaaagac	15	9	7	10	0	2	4	1	2	1	2	2	4	2	4	1	0	2	2	1	0	4	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.490G>A	p.Val164Met	p.V164M	ENST00000393328	7/11	378	298	80	250	250	0	strelka-varscan-mutect	SPOP,missense_variant,p.Val164Met,ENST00000393328,NM_003563.3,NM_001007226.1;SPOP,missense_variant,p.Val164Met,ENST00000347630,NM_001007227.1,NM_001007229.1,NM_001007230.1;SPOP,missense_variant,p.Val164Met,ENST00000503676,;SPOP,missense_variant,p.Val164Met,ENST00000504102,NM_001007228.1;SPOP,missense_variant,p.Val164Met,ENST00000509079,;SPOP,missense_variant,p.Val164Met,ENST00000505581,;SPOP,missense_variant,p.Val164Met,ENST00000507970,;SPOP,3_prime_UTR_variant,,ENST00000506399,;SPOP,3_prime_UTR_variant,,ENST00000509869,;SPOP,upstream_gene_variant,,ENST00000504889,;	T	ENST00000393328	Transcript	missense_variant	856/2985	490/1125	164/374	V/M	Gtg/Atg		1		-1	SPOP	HGNC	HGNC:11254	protein_coding	YES	CCDS11551.1	ENSP00000377001	O43791		UPI0000003F5C	NM_003563.3,NM_001007226.1	deleterious(0.02)		7/11		Gene3D:2.60.210.10,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF97,Superfamily_domains:SSF49599																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	49611448	49611448	C	T	1	0	0	0	0	1	0	0	0	15437	478	17	3		3	SPOP	17	49611448	Missense_Mutation	SNP	C	C3L-00144_TP	388886	49611448	33645993	1460	5739											
CA10	0	.	GRCh38	chr17	51633522	51633522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttggacagtccttcccCtgtaaactgaagttgatatt	9	16	8	8	0	0	2	0	2	0	0	2	3	2	3	3	1	1	3	3	1	4	7	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.918G>T	p.Gln306His	p.Q306H	ENST00000451037	8/9	149	99	50	112	112	0	strelka-varscan-mutect	CA10,missense_variant,p.Gln306His,ENST00000451037,NM_020178.4;CA10,missense_variant,p.Gln306His,ENST00000442502,NM_001082534.1;CA10,missense_variant,p.Gln306His,ENST00000285273,NM_001082533.1;CA10,missense_variant,p.Gln231His,ENST00000570565,;CA10,downstream_gene_variant,,ENST00000575181,;CA10,downstream_gene_variant,,ENST00000571918,;CA10,3_prime_UTR_variant,,ENST00000571371,;	A	ENST00000451037	Transcript	missense_variant	1859/3189	918/987	306/328	Q/H	caG/caT		1		-1	CA10	HGNC	HGNC:1369	protein_coding	YES	CCDS32684.1	ENSP00000405388	Q9NS85		UPI000000167C	NM_020178.4	tolerated(0.12)		8/9		hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF91																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	51633522	51633522	C	A	1	0	0	0	0	1	0	0	0	2197	680	24	2		2	CA10	17	51633522	Missense_Mutation	SNP	C	C3L-00144_TP	2022074	51633522	31623919	1461	5740											
CA10	0	.	GRCh38	chr17	52157739	52157739	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtacctgatatgcagacGatgaaattggcttgaagaag	13	9	11	8	2	0	5	0	3	0	2	0	6	0	5	2	1	2	3	2	1	5	4			C3L-00144_TP	C3L-00144_NB	G	G																c.48C>A	p.=	p.I16I	ENST00000451037	1/9	263	199	64	197	197	0	strelka-varscan-mutect	CA10,synonymous_variant,p.=,ENST00000451037,NM_020178.4;CA10,synonymous_variant,p.=,ENST00000442502,NM_001082534.1;CA10,synonymous_variant,p.=,ENST00000285273,NM_001082533.1;CA10,synonymous_variant,p.=,ENST00000575181,;CA10,intron_variant,,ENST00000570565,;CA10,non_coding_transcript_exon_variant,,ENST00000573294,;CA10,synonymous_variant,p.=,ENST00000571371,;	T	ENST00000451037	Transcript	synonymous_variant	989/3189	48/987	16/328	I	atC/atA	COSM1521686	1		-1	CA10	HGNC	HGNC:1369	protein_coding	YES	CCDS32684.1	ENSP00000405388	Q9NS85		UPI000000167C	NM_020178.4			1/9		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF91											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	12	52157739	52157739	G	T	1	0	0	0	0	0	0	0	1	2197	1048	37	1		1	CA10	17	52157739	Silent	SNP	G	C3L-00144_TP	524217	52157739	31099702	1462	5741											
KIF2B	0	.	GRCh38	chr17	53823891	53823891	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagttcaccgcccagccActggtggagtccatcttccg	7	9	9	16	2	2	0	1	0	1	0	4	1	4	1	6	2	2	1	6	2	1	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.858A>T	p.=	p.P286P	ENST00000268919	1/1	123	94	29	131	131	0	strelka-varscan-mutect	KIF2B,synonymous_variant,p.=,ENST00000268919,NM_032559.4;	T	ENST00000268919	Transcript	synonymous_variant	991/2313	858/2022	286/673	P	ccA/ccT		1		1	KIF2B	HGNC	HGNC:29443	protein_coding	YES	CCDS32685.1	ENSP00000268919	Q8N4N8	A0A140VKG5	UPI000013D7E6	NM_032559.4			1/1		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF524,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540																	LOW	1	SNV				1										PASS		.	.												T	2	4	12	53823891	53823891	A	T	1	0	0	0	0	0	0	0	1	8163	146	6	4		4	KIF2B	17	53823891	Silent	SNP	A	C3L-00144_TP	1666152	53823891	29433550	1463	5742											
C17orf64	0	.	GRCh38	chr17	60426273	60426273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagagccttgtggtcctagGggaccacatcaacacctttc	9	9	10	13	0	1	1	1	0	0	1	3	2	2	2	4	3	2	1	4	3	2	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.266G>T	p.Gly89Val	p.G89V	ENST00000269127	3/6	291	218	73	155	154	1	strelka-varscan-mutect	C17orf64,missense_variant,p.Gly89Val,ENST00000269127,NM_181707.2;C17orf64,missense_variant,p.Gly52Val,ENST00000474834,;USP32,upstream_gene_variant,,ENST00000588898,;USP32,upstream_gene_variant,,ENST00000590297,;C17orf64,downstream_gene_variant,,ENST00000461535,;C17orf64,non_coding_transcript_exon_variant,,ENST00000464714,;	T	ENST00000269127	Transcript	missense_variant	350/950	266/711	89/236	G/V	gGg/gTg		1		1	C17orf64	HGNC	HGNC:26990	protein_coding	YES	CCDS32698.2	ENSP00000269127	Q86WR6		UPI0000161125	NM_181707.2	deleterious(0)		3/6		Pfam_domain:PF13907,hmmpanther:PTHR21765,SMART_domains:SM01176																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	60426273	60426273	G	T	1	0	0	0	0	1	0	0	0	1886	1232	43	2		2	C17orf64	17	60426273	Missense_Mutation	SNP	G	C3L-00144_TP	6602382	60426273	22831168	1464	5743											
EFCAB3	0	.	GRCh38	chr17	62406619	62406619	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctttgctaatgctgccCggattgcaataatgaaagaa	12	11	9	9	1	0	2	0	1	0	1	0	3	0	3	2	1	5	3	2	1	5	4	rs756722182		C3L-00144_TP	C3L-00144_NB	C	C																c.784C>A	p.=	p.R262R	ENST00000450662	9/12	348	256	92	225	225	0	strelka-varscan-mutect	EFCAB3,synonymous_variant,p.=,ENST00000450662,NM_001144933.1;EFCAB3,synonymous_variant,p.=,ENST00000305286,NM_173503.3;EFCAB3,downstream_gene_variant,,ENST00000520404,;EFCAB3,non_coding_transcript_exon_variant,,ENST00000636041,;	A	ENST00000450662	Transcript	synonymous_variant	855/1694	784/1473	262/490	R	Cgg/Agg	rs756722182	1		1	EFCAB3	HGNC	HGNC:26379	protein_coding	YES	CCDS45751.1	ENSP00000403932	Q8N7B9		UPI0001929531	NM_001144933.1			9/12		Low_complexity_(Seg):seg,hmmpanther:PTHR23050:SF158,hmmpanther:PTHR23050																	LOW	1	SNV	5			1										PASS		rs756722182	.												A	2	1	12	62406619	62406619	C	A	1	0	0	0	0	0	0	0	1	4771	643	23	1		1	EFCAB3	17	62406619	Silent	SNP	C	C3L-00144_TP	1980346	62406619	20850822	1465	5744											
TLK2	0	.	GRCh38	chr17	62576737	62576737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcagaataccatgaacaaGaagaaatcttcaaactcaga	20	7	6	8	0	3	5	2	1	1	4	3	5	3	5	1	0	4	1	1	0	8	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1216G>C	p.Glu406Gln	p.E406Q	ENST00000326270	14/23	256	184	72	158	158	0	strelka-varscan-mutect	TLK2,missense_variant,p.Glu235Gln,ENST00000582809,;TLK2,missense_variant,p.Glu406Gln,ENST00000326270,NM_001284333.1;TLK2,missense_variant,p.Glu384Gln,ENST00000346027,NM_006852.3;TLK2,missense_variant,p.Glu352Gln,ENST00000343388,NM_001284363.1;TLK2,missense_variant,p.Glu320Gln,ENST00000581041,;TLK2,missense_variant,p.Glu175Gln,ENST00000578697,;TLK2,downstream_gene_variant,,ENST00000584367,;	C	ENST00000326270	Transcript	missense_variant	1484/3512	1216/2319	406/772	E/Q	Gaa/Caa		1		1	TLK2	HGNC	HGNC:11842	protein_coding	YES	CCDS62283.1	ENSP00000316512	Q86UE8		UPI00001B6B0E	NM_001284333.1	deleterious(0.01)		14/23		hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	62576737	62576737	G	C	1	0	0	0	0	1	0	0	0	16390	943	33	4		4	TLK2	17	62576737	Missense_Mutation	SNP	G	C3L-00144_TP	170118	62576737	20680704	1466	5745											
ACE	0	.	GRCh38	chr17	63486603	63486603	+	Frame_Shift_Del	DEL	C	C	-																															ccacaccctgaagtacggcaCccaggccaggaagtttgatg																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2107delC	p.Gln703ArgfsTer7	p.Q703Rfs*7	ENST00000290866	14/25	672	627	45	474	474	0	varindel-pindel	ACE,frameshift_variant,p.Gln703ArgfsTer7,ENST00000428043,;ACE,frameshift_variant,p.Gln703ArgfsTer7,ENST00000290866,NM_000789.3;ACE,frameshift_variant,p.Gln129ArgfsTer7,ENST00000290863,NM_152830.2;ACE,frameshift_variant,p.Gln129ArgfsTer7,ENST00000413513,NM_001178057.1;ACE,upstream_gene_variant,,ENST00000582761,;ACE,downstream_gene_variant,,ENST00000584529,;ACE,upstream_gene_variant,,ENST00000577418,;CTD-2501B8.1,frameshift_variant,p.Gln129ArgfsTer7,ENST00000577647,;ACE,frameshift_variant,p.Gln129ArgfsTer7,ENST00000579314,;ACE,3_prime_UTR_variant,,ENST00000578839,;ACE,3_prime_UTR_variant,,ENST00000582005,;ACE,3_prime_UTR_variant,,ENST00000579726,;ACE,3_prime_UTR_variant,,ENST00000579204,;ACE,downstream_gene_variant,,ENST00000582678,;ACE,upstream_gene_variant,,ENST00000584865,;ACE,upstream_gene_variant,,ENST00000583645,;	-	ENST00000290866	Transcript	frameshift_variant	2129/4959	2105/3921	702/1306	T/X	aCc/ac		1		1	ACE	HGNC	HGNC:2707	protein_coding	YES	CCDS11637.1	ENSP00000290866	P12821		UPI000002B8AD	NM_000789.3			14/25		hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	12	63486603	63486603	C	-	1	0	1	0	1	0	0	0	0	174	507	18	0		0	ACE	17	63486603	Frame_Shift_Del	DEL	C	C3L-00144_TP	909866	63486603	19770838	1467	5746											
KCNH6	0	.	GRCh38	chr17	63544034	63544034	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccccatgagctggggccCcagttcccctctaagggcta	6	9	10	16	0	2	1	0	1	2	0	4	1	3	1	6	3	1	3	6	3	2	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2256C>A	p.=	p.P752P	ENST00000583023	11/14	108	85	23	73	72	1	strelka-varscan-mutect	KCNH6,synonymous_variant,p.=,ENST00000583023,NM_030779.3;KCNH6,intron_variant,,ENST00000314672,NM_001278919.1,NM_001278920.1;KCNH6,intron_variant,,ENST00000581784,NM_173092.2;KCNH6,intron_variant,,ENST00000456941,;KCNH6,intron_variant,,ENST00000583465,;	A	ENST00000583023	Transcript	synonymous_variant	2267/3821	2256/2985	752/994	P	ccC/ccA		1		1	KCNH6	HGNC	HGNC:18862	protein_coding	YES	CCDS11638.1	ENSP00000463533	Q9H252		UPI000012DCAB	NM_030779.3			11/14		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF468																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	63544034	63544034	C	A	1	0	0	0	0	0	0	0	1	7952	610	22	2		2	KCNH6	17	63544034	Silent	SNP	C	C3L-00144_TP	57431	63544034	19713407	1468	5747											
GH2	0	.	GRCh38	chr17	63880771	63880771	+	Frame_Shift_Del	DEL	C	C	-																															gatccctggtgccaccctcaCccacatcagcgtttggatgc																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.457delG	p.Val153Ter	p.V153*	ENST00000332800	4/4	390	303	87	291	291	0	sindel-varindel-pindel	GH2,splice_donor_variant,,ENST00000423893,NM_002059.4;GH2,splice_donor_variant,,ENST00000449787,NM_022556.3;GH2,splice_donor_variant,,ENST00000622506,;GH2,frameshift_variant,p.Val153Ter,ENST00000332800,NM_022557.3;GH2,splice_region_variant,,ENST00000456543,NM_022558.3;CSH2,intron_variant,,ENST00000620751,;	-	ENST00000332800	Transcript	frameshift_variant	591/1138	457/771	153/256	V/X	Gtg/tg		1		-1	GH2	HGNC	HGNC:4262	protein_coding	YES	CCDS11648.1	ENSP00000333157	P01242		UPI000002B3EF	NM_022557.3			4/4		Gene3D:1.20.1250.10,Superfamily_domains:SSF47266																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	12	63880771	63880771	C	-	1	0	1	0	1	0	0	0	0	6246	521	18	0		0	GH2	17	63880771	Frame_Shift_Del	DEL	C	C3L-00144_TP	336737	63880771	19376670	1469	5748											
GNA13	0	.	GRCh38	chr17	65056377	65056377	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctggtcgaagtcctgccCgtggatgatccgcatctgct	5	10	13	13	4	1	1	0	1	1	0	4	3	3	2	3	2	2	3	3	2	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.217G>T	p.Gly73Trp	p.G73W	ENST00000439174	1/4	473	347	126	324	322	2	strelka-varscan-mutect	GNA13,missense_variant,p.Gly73Trp,ENST00000439174,NM_006572.5;GNA13,upstream_gene_variant,,ENST00000541118,NM_001282425.1;RP11-583F2.5,downstream_gene_variant,,ENST00000581796,;	A	ENST00000439174	Transcript	missense_variant	463/4922	217/1134	73/377	G/W	Ggg/Tgg		1		-1	GNA13	HGNC	HGNC:4381	protein_coding	YES	CCDS11661.1	ENSP00000400717	Q14344	A0A024R8M0	UPI0000073EBA	NM_006572.5	deleterious(0)		1/4		hmmpanther:PTHR10218:SF85,hmmpanther:PTHR10218,Pfam_domain:PF00503,Gene3D:1.10.400.10,SMART_domains:SM00275																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	65056377	65056377	C	A	1	0	0	0	0	1	0	0	0	6381	652	23	1		1	GNA13	17	65056377	Missense_Mutation	SNP	C	C3L-00144_TP	1175606	65056377	18201064	1470	5749											
CEP112	0	.	GRCh38	chr17	65852035	65852035	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccatgtcggcaataacCttgtttttaaaaatggaaaa	14	12	7	8	1	0	0	0	0	0	0	2	1	1	1	3	2	1	2	3	2	7	5	rs762903928		C3L-00144_TP	C3L-00144_NB	C	C																c.2164-1G>A		p.X722_splice	ENST00000392769		101	68	33	75	75	0	strelka-varscan-mutect	CEP112,splice_acceptor_variant,,ENST00000392769,;CEP112,splice_acceptor_variant,,ENST00000535342,NM_001199165.2;CEP112,splice_acceptor_variant,,ENST00000537949,NM_001302891.1;CEP112,splice_acceptor_variant,,ENST00000580482,;CEP112,splice_acceptor_variant,,ENST00000580694,;CEP112,splice_acceptor_variant,,ENST00000584627,;CEP112,splice_acceptor_variant,,ENST00000582795,;CEP112,splice_acceptor_variant,,ENST00000584987,;CEP112,splice_acceptor_variant,,ENST00000582861,;	T	ENST00000392769	Transcript	splice_acceptor_variant	-/3517	2164/2868	722/955			rs762903928	1		-1	CEP112	HGNC	HGNC:28514	protein_coding	YES	CCDS32710.1	ENSP00000376522	Q8N8E3		UPI0000603C26					20/26																		HIGH	1	SNV	5			1										PASS		rs762903928	.												T	5	4	12	65852035	65852035	C	T	1	0	0	0	0	0	0	1	0	2955	695	24	3		3	CEP112	17	65852035	Splice_Site	SNP	C	C3L-00144_TP	795658	65852035	17405406	1471	5750											
PRKCA	0	.	GRCh38	chr17	66738854	66738854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttaaggaaccacaagcaGtgtgagtattattttttaag	15	14	8	4	0	0	1	0	1	0	0	0	2	0	2	1	1	2	2	1	1	7	7	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1321G>T	p.Val441Leu	p.V441L	ENST00000413366	11/17	354	268	86	230	229	1	strelka-varscan-mutect	PRKCA,missense_variant,p.Val441Leu,ENST00000413366,NM_002737.2;PRKCA,splice_region_variant,,ENST00000284384,;	T	ENST00000413366	Transcript	missense_variant,splice_region_variant	1347/8751	1321/2019	441/672	V/L	Gta/Tta		1		1	PRKCA	HGNC	HGNC:9393	protein_coding	YES	CCDS11664.1	ENSP00000408695	P17252	L7RSM7	UPI000013DD98	NM_002737.2	tolerated(0.19)		11/17		PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF193,Pfam_domain:PF00069,PIRSF_domain:PIRSF000550,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	66738854	66738854	G	T	1	0	0	0	0	1	0	0	0	12640	1043	36	2		2	PRKCA	17	66738854	Missense_Mutation	SNP	G	C3L-00144_TP	886819	66738854	16518587	1472	5751											
CACNG4	0	.	GRCh38	chr17	67030778	67030778	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggtccaccgaggcctCgccctccagggacgtgtcgc	6	6	12	17	4	1	0	1	0	0	0	5	2	3	1	5	3	0	0	5	3	1	0			C3L-00144_TP	C3L-00144_NB	C	C																c.758C>A	p.Ser253Ter	p.S253*	ENST00000262138	4/4	259	191	68	197	197	0	strelka-varscan-mutect	CACNG4,stop_gained,p.Ser253Ter,ENST00000262138,NM_014405.3;RP11-74H8.1,downstream_gene_variant,,ENST00000579138,;	A	ENST00000262138	Transcript	stop_gained	760/3380	758/984	253/327	S/*	tCg/tAg	COSM380914	1		1	CACNG4	HGNC	HGNC:1408	protein_coding	YES	CCDS11667.1	ENSP00000262138	Q9UBN1	A0A024R8J8	UPI0000001649	NM_014405.3			4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF7											1						HIGH	1	SNV	1		1	1										PASS		rs1230291904	.												A	4	1	12	67030778	67030778	C	A	1	0	0	0	0	0	1	0	0	2247	893	31	1		1	CACNG4	17	67030778	Nonsense_Mutation	SNP	C	C3L-00144_TP	291924	67030778	16226663	1473	5752											
SOX9	0	.	GRCh38	chr17	72122836	72122836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggaggaagtcggtgaaGaacgggcaggcggaggcaga	11	2	21	7	5	0	3	0	1	0	2	1	6	0	6	0	8	1	2	0	8	3	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.549G>T	p.Lys183Asn	p.K183N	ENST00000245479	2/3	496	368	128	299	298	1	strelka-varscan-mutect	SOX9,missense_variant,p.Lys183Asn,ENST00000245479,NM_000346.3;SOX9-AS1,intron_variant,,ENST00000414600,;SOX9-AS1,intron_variant,,ENST00000628742,;SOX9-AS1,upstream_gene_variant,,ENST00000440093,;SOX9-AS1,upstream_gene_variant,,ENST00000533179,;SOX9-AS1,upstream_gene_variant,,ENST00000529667,;SOX9-AS1,upstream_gene_variant,,ENST00000533232,;	T	ENST00000245479	Transcript	missense_variant	921/3935	549/1530	183/509	K/N	aaG/aaT		1		1	SOX9	HGNC	HGNC:11204	protein_coding	YES	CCDS11689.1	ENSP00000245479	P48436		UPI00000009D8	NM_000346.3	deleterious(0.01)		2/3		hmmpanther:PTHR10270:SF212,hmmpanther:PTHR10270,Gene3D:1.10.30.10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	72122836	72122836	G	T	1	0	0	0	0	1	0	0	0	15284	933	33	2		2	SOX9	17	72122836	Missense_Mutation	SNP	G	C3L-00144_TP	5092058	72122836	11134605	1474	5753											
SOX9	0	.	GRCh38	chr17	72123793	72123793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccggccacgcacggccaGgtcacctacacgggcagcta	8	4	13	16	4	1	0	1	0	0	0	1	0	1	0	4	4	3	3	4	4	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.936G>T	p.Gln312His	p.Q312H	ENST00000245479	3/3	318	300	18	228	228	0	strelka-varscan-mutect	SOX9,missense_variant,p.Gln312His,ENST00000245479,NM_000346.3;SOX9-AS1,intron_variant,,ENST00000414600,;SOX9-AS1,intron_variant,,ENST00000628742,;SOX9-AS1,upstream_gene_variant,,ENST00000440093,;SOX9-AS1,upstream_gene_variant,,ENST00000533179,;SOX9-AS1,upstream_gene_variant,,ENST00000529667,;SOX9-AS1,upstream_gene_variant,,ENST00000533232,;	T	ENST00000245479	Transcript	missense_variant	1308/3935	936/1530	312/509	Q/H	caG/caT		1		1	SOX9	HGNC	HGNC:11204	protein_coding	YES	CCDS11689.1	ENSP00000245479	P48436		UPI00000009D8	NM_000346.3	tolerated(0.13)		3/3		hmmpanther:PTHR10270:SF212,hmmpanther:PTHR10270																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	72123793	72123793	G	T	1	0	0	0	0	1	0	0	0	15284	991	35	2		2	SOX9	17	72123793	Missense_Mutation	SNP	G	C3L-00144_TP	957	72123793	11133648	1475	5754											
SDK2	0	.	GRCh38	chr17	73358127	73358127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgatgggccctttgcccgGgtctccgctggaccagtgaa	5	9	15	12	2	1	2	0	2	1	0	2	3	1	3	4	4	1	1	4	4	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.5545C>A	p.Pro1849Thr	p.P1849T	ENST00000392650	40/45	387	283	104	265	264	1	strelka-varscan-mutect	SDK2,missense_variant,p.Pro1849Thr,ENST00000392650,NM_001144952.1;SDK2,missense_variant,p.Pro1006Thr,ENST00000424778,;SDK2,non_coding_transcript_exon_variant,,ENST00000410094,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;	T	ENST00000392650	Transcript	missense_variant	5546/10723	5545/6519	1849/2172	P/T	Ccg/Acg		1		-1	SDK2	HGNC	HGNC:19308	protein_coding	YES	CCDS45769.1	ENSP00000376421	Q58EX2		UPI0000E5A088	NM_001144952.1	tolerated(0.58)		40/45		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF37,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	73358127	73358127	G	T	1	0	0	0	0	1	0	0	0	14244	1232	43	2		2	SDK2	17	73358127	Missense_Mutation	SNP	G	C3L-00144_TP	1234334	73358127	9899314	1476	5755											
KIF19	0	.	GRCh38	chr17	74350511	74350511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtgcggaggcgcctgctgGagctggagaaccgcgccatg	7	6	17	11	4	0	1	0	0	0	1	0	4	0	3	3	4	4	2	3	4	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1324G>A	p.Glu442Lys	p.E442K	ENST00000389916	11/20	194	138	56	126	126	0	strelka-varscan-mutect	KIF19,missense_variant,p.Glu442Lys,ENST00000389916,NM_153209.3;KIF19,missense_variant,p.Glu400Lys,ENST00000551294,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;KIF19,downstream_gene_variant,,ENST00000549637,;	A	ENST00000389916	Transcript	missense_variant	1462/3643	1324/2997	442/998	E/K	Gag/Aag		1		1	KIF19	HGNC	HGNC:26735	protein_coding	YES	CCDS32718.2	ENSP00000374566	Q2TAC6		UPI0000F0A553	NM_153209.3	deleterious(0.01)		11/20		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF434																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	74350511	74350511	G	A	1	0	0	0	0	1	0	0	0	8146	1175	41	3		3	KIF19	17	74350511	Missense_Mutation	SNP	G	C3L-00144_TP	992384	74350511	8906930	1477	5756											
KIF19	0	.	GRCh38	chr17	74353299	74353299	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcggcagcctggtgacgcagGaggtgagctctcagtacccg	7	7	15	12	3	1	2	1	2	1	0	3	3	1	3	2	4	3	4	2	4	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2218G>T	p.Glu740Ter	p.E740*	ENST00000389916	16/20	242	181	61	157	157	0	strelka-varscan-mutect	KIF19,stop_gained,p.Glu740Ter,ENST00000389916,NM_153209.3;KIF19,downstream_gene_variant,,ENST00000551294,;BTBD17,downstream_gene_variant,,ENST00000375366,NM_001080466.1;KIF19,downstream_gene_variant,,ENST00000547389,;KIF19,downstream_gene_variant,,ENST00000359939,;KIF19,downstream_gene_variant,,ENST00000549637,;	T	ENST00000389916	Transcript	stop_gained,splice_region_variant	2356/3643	2218/2997	740/998	E/*	Gag/Tag		1		1	KIF19	HGNC	HGNC:26735	protein_coding	YES	CCDS32718.2	ENSP00000374566	Q2TAC6		UPI0000F0A553	NM_153209.3			16/20																			HIGH		SNV	5			1										PASS		.	.												T	4	4	12	74353299	74353299	G	T	1	0	0	0	0	0	1	0	0	8146	1188	41	2		2	KIF19	17	74353299	Nonsense_Mutation	SNP	G	C3L-00144_TP	2788	74353299	8904142	1478	5757											
GPRC5C	0	.	GRCh38	chr17	74440735	74440735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggacatgtaccccacccGgggcgtgggctatgagacca	8	5	16	12	2	0	1	0	1	0	1	0	3	0	2	4	5	1	2	4	5	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1094G>T	p.Arg365Leu	p.R365L	ENST00000392627	2/4	77	55	22	49	49	0	strelka-varscan-mutect	GPRC5C,missense_variant,p.Arg365Leu,ENST00000392627,NM_022036.2;GPRC5C,missense_variant,p.Arg340Leu,ENST00000392628,;GPRC5C,missense_variant,p.Arg332Leu,ENST00000392629,NM_018653.3;GPRC5C,missense_variant,p.Arg5Leu,ENST00000342648,;GPRC5C,intron_variant,,ENST00000481232,;GPRC5C,intron_variant,,ENST00000581590,;GPRC5C,downstream_gene_variant,,ENST00000582473,;GPRC5C,downstream_gene_variant,,ENST00000582444,;GPRC5C,upstream_gene_variant,,ENST00000582873,;GPRC5C,upstream_gene_variant,,ENST00000482723,;GPRC5C,upstream_gene_variant,,ENST00000577663,;	T	ENST00000392627	Transcript	missense_variant	2220/2988	1094/1461	365/486	R/L	cGg/cTg		1		1	GPRC5C	HGNC	HGNC:13309	protein_coding	YES	CCDS11699.1	ENSP00000376403		A0A0C4DFY5	UPI0000231CB2	NM_022036.2	deleterious(0)		2/4		hmmpanther:PTHR14511,hmmpanther:PTHR14511:SF15																	MODERATE	1	SNV	1			1										PASS		rs1022287414	.												T	3	4	12	74440735	74440735	G	T	1	0	0	0	0	1	0	0	0	6605	1116	39	1		1	GPRC5C	17	74440735	Missense_Mutation	SNP	G	C3L-00144_TP	87436	74440735	8816706	1479	5758											
OTOP2	0	.	GRCh38	chr17	74930357	74930357	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttccagcaggggtactTctacctatatcccttcaaca	10	12	6	13	0	3	0	1	0	2	0	5	1	5	0	3	2	4	2	3	2	5	7	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.722T>G	p.Phe241Cys	p.F241C	ENST00000331427	6/7	340	245	95	261	261	0	strelka-varscan-mutect	OTOP2,missense_variant,p.Phe241Cys,ENST00000331427,NM_178160.2;OTOP2,missense_variant,p.Phe241Cys,ENST00000580223,;OTOP2,downstream_gene_variant,,ENST00000584711,;	G	ENST00000331427	Transcript	missense_variant	814/2147	722/1689	241/562	F/C	tTc/tGc		1		1	OTOP2	HGNC	HGNC:19657	protein_coding	YES	CCDS11708.1	ENSP00000332528	Q7RTS6		UPI000018F613	NM_178160.2	deleterious(0)		6/7		Transmembrane_helices:TMhelix,hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF35,Pfam_domain:PF03189																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	12	74930357	74930357	T	G	1	0	0	0	0	1	0	0	0	11374	1783	62	5		5	OTOP2	17	74930357	Missense_Mutation	SNP	T	C3L-00144_TP	489622	74930357	8327084	1480	5759											
UNC13D	0	.	GRCh38	chr17	75840069	75840069	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcaggaggtggaggtgCacggtgtagctcggctgcga	6	8	19	8	3	0	0	0	0	0	0	1	3	0	2	0	6	5	6	0	6	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.900G>A	p.=	p.V300V	ENST00000207549	11/32	624	468	156	385	385	0	strelka-varscan-mutect	UNC13D,synonymous_variant,p.=,ENST00000207549,NM_199242.2;UNC13D,synonymous_variant,p.=,ENST00000412096,;UNC13D,synonymous_variant,p.=,ENST00000592386,;UNC13D,intron_variant,,ENST00000586147,;UNC13D,downstream_gene_variant,,ENST00000590762,;UNC13D,downstream_gene_variant,,ENST00000586108,;UNC13D,non_coding_transcript_exon_variant,,ENST00000587504,;UNC13D,downstream_gene_variant,,ENST00000585574,;UNC13D,synonymous_variant,p.=,ENST00000587105,;UNC13D,non_coding_transcript_exon_variant,,ENST00000591563,;UNC13D,downstream_gene_variant,,ENST00000588774,;UNC13D,upstream_gene_variant,,ENST00000591616,;UNC13D,downstream_gene_variant,,ENST00000587495,;	T	ENST00000207549	Transcript	synonymous_variant	1280/4393	900/3273	300/1090	V	gtG/gtA		1		-1	UNC13D	HGNC	HGNC:23147	protein_coding	YES	CCDS11730.1	ENSP00000207549	Q70J99		UPI000015FC91	NM_199242.2			11/32		Low_complexity_(Seg):seg,hmmpanther:PTHR10774:SF98,hmmpanther:PTHR10774																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	75840069	75840069	C	T	1	0	0	0	0	0	0	0	1	17511	697	25	3		3	UNC13D	17	75840069	Silent	SNP	C	C3L-00144_TP	909712	75840069	7417372	1481	5760											
MXRA7	0	.	GRCh38	chr17	76677604	76677604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctacatgtcgtagagcCggagctgctcctgcacgtcg	7	9	12	13	4	1	1	0	0	1	1	4	2	2	2	2	1	5	4	2	1	2	2	rs202238128		C3L-00144_TP	C3L-00144_NB	C	C																c.599G>T	p.Arg200Leu	p.R200L	ENST00000355797	4/4	214	150	64	131	129	2	strelka-varscan-mutect	MXRA7,missense_variant,p.Arg200Leu,ENST00000355797,NM_001008528.2;MXRA7,downstream_gene_variant,,ENST00000592148,;MXRA7,downstream_gene_variant,,ENST00000375036,NM_001008529.2;MXRA7,downstream_gene_variant,,ENST00000449428,NM_198530.3;MXRA7,downstream_gene_variant,,ENST00000589082,;MXRA7,downstream_gene_variant,,ENST00000585519,;MXRA7,downstream_gene_variant,,ENST00000588114,;RP11-318A15.2,downstream_gene_variant,,ENST00000565271,;	A	ENST00000355797	Transcript	missense_variant	608/5661	599/615	200/204	R/L	cGg/cTg	rs202238128	1		-1	MXRA7	HGNC	HGNC:7541	protein_coding	YES	CCDS32745.1	ENSP00000348050	P84157		UPI000023765A	NM_001008528.2			4/4		hmmpanther:PTHR21845																	MODERATE	1	SNV	2			1										PASS		rs202238128	.												A	3	1	12	76677604	76677604	C	A	1	0	0	0	0	1	0	0	0	10003	652	23	1		1	MXRA7	17	76677604	Missense_Mutation	SNP	C	C3L-00144_TP	837535	76677604	6579837	1482	5761											
MGAT5B	0	.	GRCh38	chr17	76904392	76904392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaaccagacggctgcccaGagggcacccaagcccctccc	10	2	11	18	1	0	2	0	0	0	2	1	3	1	3	6	3	3	2	6	3	2	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.693G>A	p.=	p.Q231Q	ENST00000428789	5/16	163	129	34	78	78	0	strelka-varscan-mutect	MGAT5B,synonymous_variant,p.=,ENST00000569840,NM_001199172.1;MGAT5B,synonymous_variant,p.=,ENST00000301618,NM_144677.2;MGAT5B,synonymous_variant,p.=,ENST00000428789,NM_198955.1;MGAT5B,non_coding_transcript_exon_variant,,ENST00000374998,;MGAT5B,synonymous_variant,p.=,ENST00000565043,;	A	ENST00000428789	Transcript	synonymous_variant	796/4053	693/2406	231/801	Q	caG/caA		1		1	MGAT5B	HGNC	HGNC:24140	protein_coding	YES	CCDS45788.1	ENSP00000391227	Q3V5L5		UPI0000231C88	NM_198955.1			5/16		Pfam_domain:PF15024,hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF6																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	76904392	76904392	G	A	1	0	0	0	0	0	0	0	1	9510	933	33	3		3	MGAT5B	17	76904392	Silent	SNP	G	C3L-00144_TP	226788	76904392	6353049	1483	5762											
MGAT5B	0	.	GRCh38	chr17	76946446	76946446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccacgcctacatccagcAccaggtcagtgagccctctg	9	7	9	16	1	2	1	1	1	1	0	4	2	4	1	5	1	3	1	5	1	1	1	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1946A>G	p.His649Arg	p.H649R	ENST00000428789	14/16	80	52	28	39	39	0	strelka-mutect	MGAT5B,missense_variant,p.His640Arg,ENST00000569840,NM_001199172.1;MGAT5B,missense_variant,p.His638Arg,ENST00000301618,NM_144677.2;MGAT5B,missense_variant,p.His649Arg,ENST00000428789,NM_198955.1;RP11-87G24.3,downstream_gene_variant,,ENST00000585902,;RP11-87G24.3,downstream_gene_variant,,ENST00000564292,;MGAT5B,non_coding_transcript_exon_variant,,ENST00000563153,;MGAT5B,3_prime_UTR_variant,,ENST00000565043,;MGAT5B,non_coding_transcript_exon_variant,,ENST00000568598,;	G	ENST00000428789	Transcript	missense_variant	2049/4053	1946/2406	649/801	H/R	cAc/cGc		1		1	MGAT5B	HGNC	HGNC:24140	protein_coding	YES	CCDS45788.1	ENSP00000391227	Q3V5L5		UPI0000231C88	NM_198955.1	tolerated(0.06)		14/16		Pfam_domain:PF15024,hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	76946446	76946446	A	G	1	0	0	0	0	1	0	0	0	9510	173	6	5		5	MGAT5B	17	76946446	Missense_Mutation	SNP	A	C3L-00144_TP	42054	76946446	6310995	1484	5763											
DNAH17	0	.	GRCh38	chr17	78566683	78566683	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtggccagcctcctatcCaggtcttggattttgatctc	6	14	9	12	1	2	1	0	1	2	0	6	2	4	2	4	3	1	0	4	3	1	4	rs754988436		C3L-00144_TP	C3L-00144_NB	C	C																c.1500G>T	p.=	p.L500L	ENST00000389840	11/81	340	270	70	231	231	0	strelka-varscan-mutect	DNAH17,synonymous_variant,p.=,ENST00000389840,NM_173628.3;DNAH17,synonymous_variant,p.=,ENST00000585328,;DNAH17,non_coding_transcript_exon_variant,,ENST00000589793,;	A	ENST00000389840	Transcript	synonymous_variant	1625/13723	1500/13389	500/4462	L	ctG/ctT	rs754988436	1		-1	DNAH17	HGNC	HGNC:2946	protein_coding	YES		ENSP00000374490	Q9UFH2		UPI0001B25601	NM_173628.3			11/81		Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF284																	LOW	1	SNV	5			1										PASS		rs754988436	.												A	2	1	12	78566683	78566683	C	A	1	0	0	0	0	0	0	0	1	4416	581	21	2		2	DNAH17	17	78566683	Silent	SNP	C	C3L-00144_TP	1620237	78566683	4690758	1485	5764											
CEP295NL	0	.	GRCh38	chr17	78890778	78890778	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgtcggcgaggctggtgcCcgatggggaagtggtgctga	5	8	20	8	4	0	1	0	1	0	0	2	4	0	2	1	6	2	2	1	6	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1726G>T	p.Gly576Cys	p.G576C	ENST00000322630	3/3	558	440	118	334	332	2	strelka-varscan-mutect	CEP295NL,missense_variant,p.Gly576Cys,ENST00000322630,NM_001243541.1,NM_001243540.1;CEP295NL,missense_variant,p.Gly576Cys,ENST00000619342,;TIMP2,intron_variant,,ENST00000262768,NM_003255.4;TIMP2,intron_variant,,ENST00000536189,;CEP295NL,intron_variant,,ENST00000586713,;CEP295NL,downstream_gene_variant,,ENST00000590267,;CEP295NL,downstream_gene_variant,,ENST00000587052,;	A	ENST00000322630	Transcript	missense_variant	1892/2090	1726/1866	576/621	G/C	Ggc/Tgc		1		-1	CEP295NL	HGNC	HGNC:44659	protein_coding	YES	CCDS58603.1	ENSP00000312767	Q96MC4		UPI0000071A46	NM_001243541.1,NM_001243540.1	tolerated(0.12)		3/3		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF2																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	12	78890778	78890778	C	A	1	0	0	0	0	1	0	0	0	2971	623	22	2		2	CEP295NL	17	78890778	Missense_Mutation	SNP	C	C3L-00144_TP	324095	78890778	4366663	1486	5765											
CBX4	0	.	GRCh38	chr17	79834853	79834853	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtatttgctcatcacgatCacgatgcgtccgttcttgtt	7	16	8	10	4	4	0	3	0	1	0	5	2	5	0	1	0	2	4	1	0	1	5	rs772029545		C3L-00144_TP	C3L-00144_NB	C	C																c.789G>T	p.=	p.V263V	ENST00000269397	5/5	93	70	23	68	68	0	strelka-varscan-mutect	CBX4,synonymous_variant,p.=,ENST00000269397,NM_003655.2;CBX4,downstream_gene_variant,,ENST00000448310,;CBX4,downstream_gene_variant,,ENST00000495122,;CBX4,downstream_gene_variant,,ENST00000494546,;	A	ENST00000269397	Transcript	synonymous_variant	967/2664	789/1683	263/560	V	gtG/gtT	rs772029545	1		-1	CBX4	HGNC	HGNC:1554	protein_coding	YES	CCDS32758.1	ENSP00000269397	O00257	A0A0S2Z5B2	UPI000013D82E	NM_003655.2			5/5		hmmpanther:PTHR22812,hmmpanther:PTHR22812:SF10																	LOW	1	SNV	1			1										PASS		rs772029545	.												A	2	1	12	79834853	79834853	C	A	1	0	0	0	0	0	0	0	1	2420	813	29	2		2	CBX4	17	79834853	Silent	SNP	C	C3L-00144_TP	944075	79834853	3422588	1487	5766											
CCDC40	0	.	GRCh38	chr17	80087626	80087626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaagattgagcaggagaaGaaggagcagaaggagatcga	17	3	17	4	1	0	6	0	1	0	5	1	10	0	7	0	4	2	3	0	4	4	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2469G>A	p.=	p.K823K	ENST00000397545	15/20	725	686	39	513	513	0	strelka-varscan-mutect	CCDC40,synonymous_variant,p.=,ENST00000397545,NM_017950.3;CCDC40,synonymous_variant,p.=,ENST00000374877,NM_001243342.1;CCDC40,upstream_gene_variant,,ENST00000573903,;CCDC40,non_coding_transcript_exon_variant,,ENST00000572253,;CCDC40,non_coding_transcript_exon_variant,,ENST00000574799,;CCDC40,non_coding_transcript_exon_variant,,ENST00000575431,;CCDC40,upstream_gene_variant,,ENST00000574933,;	A	ENST00000397545	Transcript	synonymous_variant	2496/4294	2469/3429	823/1142	K	aaG/aaA		1		1	CCDC40	HGNC	HGNC:26090	protein_coding	YES	CCDS42395.1	ENSP00000380679	Q4G0X9		UPI0000201739	NM_017950.3			15/20		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF08647,hmmpanther:PTHR16275,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	12	80087626	80087626	G	A	1	0	0	0	0	0	0	0	1	2521	933	33	3		3	CCDC40	17	80087626	Silent	SNP	G	C3L-00144_TP	252773	80087626	3169815	1488	5767											
LRRC45	0	.	GRCh38	chr17	82024764	82024764	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaacaagtccattcagagGtgggtggtggtcccgacccc	9	7	13	12	1	1	2	1	0	0	2	3	3	3	2	4	4	1	0	4	4	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.353+1G>A		p.X118_splice	ENST00000306688		68	52	16	39	39	0	strelka-varscan-mutect	LRRC45,splice_donor_variant,,ENST00000306688,NM_144999.3;LRRC45,splice_donor_variant,,ENST00000577638,;STRA13,upstream_gene_variant,,ENST00000392359,NM_001271006.1;STRA13,upstream_gene_variant,,ENST00000584347,;STRA13,upstream_gene_variant,,ENST00000306704,NM_144998.3;STRA13,upstream_gene_variant,,ENST00000584600,;STRA13,upstream_gene_variant,,ENST00000580435,NM_001271007.1;STRA13,upstream_gene_variant,,ENST00000579520,;LRRC45,splice_donor_variant,,ENST00000583383,;STRA13,upstream_gene_variant,,ENST00000583767,;STRA13,upstream_gene_variant,,ENST00000584514,;STRA13,upstream_gene_variant,,ENST00000577379,;STRA13,upstream_gene_variant,,ENST00000580090,;LRRC45,upstream_gene_variant,,ENST00000583302,;LRRC45,upstream_gene_variant,,ENST00000581227,;STRA13,upstream_gene_variant,,ENST00000585091,;LRRC45,upstream_gene_variant,,ENST00000582083,;	A	ENST00000306688	Transcript	splice_donor_variant	-/2701	353/2013	118/670				1		1	LRRC45	HGNC	HGNC:28302	protein_coding	YES	CCDS11797.1	ENSP00000306760	Q96CN5		UPI000006EF33	NM_144999.3				3/16																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	12	82024764	82024764	G	A	1	0	0	0	0	0	0	1	0	8898	1275	44	3		3	LRRC45	17	82024764	Splice_Site	SNP	G	C3L-00144_TP	1937138	82024764	1232677	1489	5768											
CD7	0	.	GRCh38	chr17	82315383	82315383	+	Missense_Mutation	SNP	C	C	A																															gtgcgacatgtcctcgtacaCcacacatgccgccgaattct																								rs767794706		C3L-00144_TP	C3L-00144_NB	C	C																c.661G>T	p.Val221Leu	p.V221L	ENST00000312648	4/4	338	289	49	187	187	0	strelka-varscan-mutect	CD7,missense_variant,p.Val121Leu,ENST00000583376,;CD7,missense_variant,p.Val221Leu,ENST00000312648,NM_006137.6;CD7,3_prime_UTR_variant,,ENST00000584284,;CD7,downstream_gene_variant,,ENST00000578509,;CD7,downstream_gene_variant,,ENST00000582480,;CD7,downstream_gene_variant,,ENST00000581744,;CD7,downstream_gene_variant,,ENST00000581434,;	A	ENST00000312648	Transcript	missense_variant	768/1281	661/723	221/240	V/L	Gtg/Ttg	rs767794706	1		-1	CD7	HGNC	HGNC:1695	protein_coding	YES	CCDS11807.1	ENSP00000312027	P09564	Q29VG3	UPI00000359A4	NM_006137.6	deleterious(0.01)		4/4		hmmpanther:PTHR15343,hmmpanther:PTHR15343:SF0																	MODERATE	1	SNV	1			1										PASS		rs767794706	.												A	3	1	12	82315383	82315383	C	A	1	0	0	0	0	1	0	0	0	2736	507	18	2		2	CD7	17	82315383	Missense_Mutation	SNP	C	C3L-00144_TP	290619	82315383	942058	1490	5769	130	2									
CD7	0	.	GRCh38	chr17	82315384	82315384	+	Silent	SNP	C	C	A																															tgcgacatgtcctcgtacacCacacatgccgccgaattctt																										C3L-00144_TP	C3L-00144_NB	C	C																c.660G>T	p.=	p.V220V	ENST00000312648	4/4	338	292	46	185	185	0	strelka-varscan-mutect	CD7,synonymous_variant,p.=,ENST00000583376,;CD7,synonymous_variant,p.=,ENST00000312648,NM_006137.6;CD7,3_prime_UTR_variant,,ENST00000584284,;CD7,downstream_gene_variant,,ENST00000578509,;CD7,downstream_gene_variant,,ENST00000582480,;CD7,downstream_gene_variant,,ENST00000581744,;CD7,downstream_gene_variant,,ENST00000581434,;	A	ENST00000312648	Transcript	synonymous_variant	767/1281	660/723	220/240	V	gtG/gtT	COSM127581	1		-1	CD7	HGNC	HGNC:1695	protein_coding	YES	CCDS11807.1	ENSP00000312027	P09564	Q29VG3	UPI00000359A4	NM_006137.6			4/4		hmmpanther:PTHR15343,hmmpanther:PTHR15343:SF0											1						LOW	1	SNV	1		1	1										PASS		rs1428596471	.												A	2	1	12	82315384	82315384	C	A	1	0	0	0	0	0	0	0	1	2736	581	21	2		2	CD7	17	82315384	Silent	SNP	C	C3L-00144_TP	1	82315384	942057	1491	5770	130	2									
COLEC12	0	.	GRCh38	chr18	334803	334803	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcaccaccgctcctgaTgggccaggagggccgggggg	6	3	20	12	2	0	1	0	1	0	0	1	2	1	2	5	8	0	2	5	8	0	0	rs148864903		C3L-00144_TP	C3L-00144_NB	T	T																c.1755A>T	p.=	p.P585P	ENST00000400256	6/10	42	34	8	38	38	0	strelka-varscan-mutect	COLEC12,synonymous_variant,p.=,ENST00000400256,NM_130386.2;COLEC12,non_coding_transcript_exon_variant,,ENST00000582147,;	A	ENST00000400256	Transcript	synonymous_variant	1963/5742	1755/2229	585/742	P	ccA/ccT	rs148864903	1		-1	COLEC12	HGNC	HGNC:16016	protein_coding	YES	CCDS32782.1	ENSP00000383115	Q5KU26		UPI00002018EC	NM_130386.2			6/10		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF597,hmmpanther:PTHR24023,Pfam_domain:PF01391																	LOW	1	SNV	1			1										PASS		rs148864903	.												A	2	1	12	334803	334803	T	A	1	0	0	0	0	0	0	0	1	3502	1451	51	4		4	COLEC12	18	334803	Silent	SNP	T	C3L-00144_TP		334803	80038482	1492	5771											
YES1	0	.	GRCh38	chr18	745737	745737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttcaccaatttctgcagaGtatcaaattgtgctctggtt	9	16	8	8	0	4	1	2	0	2	1	4	1	4	1	1	1	2	5	1	1	3	5	rs746080500		C3L-00144_TP	C3L-00144_NB	G	G																c.695C>A	p.Thr232Asn	p.T232N	ENST00000584307	6/12	110	61	49	86	86	0	strelka-varscan-mutect	YES1,missense_variant,p.Thr232Asn,ENST00000584307,;YES1,missense_variant,p.Thr237Asn,ENST00000577961,;YES1,missense_variant,p.Thr232Asn,ENST00000314574,NM_005433.3;	T	ENST00000584307	Transcript	missense_variant	866/4639	695/1632	232/543	T/N	aCt/aAt	rs746080500	1		-1	YES1	HGNC	HGNC:12841	protein_coding	YES	CCDS11824.1	ENSP00000462468	P07947		UPI0000062316		tolerated(0.06)		6/12		Gene3D:3.30.505.10,Pfam_domain:PF00017,Prints_domain:PR00401,PROSITE_profiles:PS50001,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF224,SMART_domains:SM00252,Superfamily_domains:SSF55550																	MODERATE	1	SNV	1			1										PASS		rs746080500	.												T	3	4	12	745737	745737	G	T	1	0	0	0	0	1	0	0	0	18036	1029	36	2		2	YES1	18	745737	Missense_Mutation	SNP	G	C3L-00144_TP	410934	745737	79627548	1493	5772											
SMCHD1	0	.	GRCh38	chr18	2705718	2705718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaatcaagacacttcccCtcttttatggaagcatagta	14	11	6	10	0	2	2	1	0	1	2	3	3	3	3	2	1	1	2	2	1	6	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1867C>T	p.Leu623Phe	p.L623F	ENST00000320876	14/48	143	99	44	139	139	0	strelka-varscan-mutect	SMCHD1,missense_variant,p.Leu623Phe,ENST00000320876,NM_015295.2;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,missense_variant,p.Leu94Phe,ENST00000577880,;SMCHD1,non_coding_transcript_exon_variant,,ENST00000577300,;SMCHD1,upstream_gene_variant,,ENST00000584897,;SMCHD1,downstream_gene_variant,,ENST00000585229,;SMCHD1,upstream_gene_variant,,ENST00000581711,;	T	ENST00000320876	Transcript	missense_variant	2205/8821	1867/6018	623/2005	L/F	Ctc/Ttc		1		1	SMCHD1	HGNC	HGNC:29090	protein_coding	YES	CCDS45822.1	ENSP00000326603	A6NHR9		UPI00001D7AAD	NM_015295.2	deleterious(0.02)		14/48		hmmpanther:PTHR22640,hmmpanther:PTHR22640:SF2																	MODERATE		SNV	5			1										PASS		rs886042326	.												T	3	4	12	2705718	2705718	C	T	1	0	0	0	0	1	0	0	0	15081	681	24	3		3	SMCHD1	18	2705718	Missense_Mutation	SNP	C	C3L-00144_TP	1959981	2705718	77667567	1494	5773											
LPIN2	0	.	GRCh38	chr18	2922095	2922095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacagcatcagggggcccCggggcaagattgtgcccttg	7	6	17	11	1	1	1	1	0	0	1	1	2	1	2	3	5	2	2	3	5	1	2			C3L-00144_TP	C3L-00144_NB	C	C																c.2279G>T	p.Arg760Leu	p.R760L	ENST00000261596	17/20	205	141	64	170	170	0	strelka-varscan-mutect	LPIN2,missense_variant,p.Arg760Leu,ENST00000261596,NM_014646.2;RP11-737O24.5,downstream_gene_variant,,ENST00000608032,;	A	ENST00000261596	Transcript	missense_variant	2518/6229	2279/2691	760/896	R/L	cGg/cTg	COSM240516	1		-1	LPIN2	HGNC	HGNC:14450	protein_coding	YES	CCDS11829.1	ENSP00000261596	Q92539		UPI000012E865	NM_014646.2	tolerated(0.07)		17/20		hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF11,Gene3D:3.40.50.1000,Pfam_domain:PF08235,SMART_domains:SM00775,Superfamily_domains:SSF56784											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	2922095	2922095	C	A	1	0	0	0	0	1	0	0	0	8819	652	23	1		1	LPIN2	18	2922095	Missense_Mutation	SNP	C	C3L-00144_TP	216377	2922095	77451190	1495	5774											
DLGAP1	0	.	GRCh38	chr18	3879472	3879472	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccgagctccaccagccCggggaggtgctgggccgggc	4	5	17	15	4	0	0	0	0	0	0	3	2	2	1	5	5	3	2	5	5	0	0	rs558598498		C3L-00144_TP	C3L-00144_NB	C	C																c.597G>T	p.=	p.P199P	ENST00000315677	4/13	106	65	41	95	95	0	strelka-varscan-mutect	DLGAP1,synonymous_variant,p.=,ENST00000315677,NM_004746.3;DLGAP1,synonymous_variant,p.=,ENST00000581527,NM_001242761.1;DLGAP1,upstream_gene_variant,,ENST00000515196,NM_001242763.1;DLGAP1,upstream_gene_variant,,ENST00000534970,NM_001242762.1;DLGAP1-AS3,intron_variant,,ENST00000577649,;DLGAP1,non_coding_transcript_exon_variant,,ENST00000498188,;DLGAP1,upstream_gene_variant,,ENST00000478161,;	A	ENST00000315677	Transcript	synonymous_variant	1193/6683	597/2934	199/977	P	ccG/ccT	rs558598498	1		-1	DLGAP1	HGNC	HGNC:2905	protein_coding	YES	CCDS11836.1	ENSP00000316377	O14490		UPI0000129490	NM_004746.3			4/13		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF7																	LOW		SNV	5			1										PASS		rs558598498	.												A	2	1	12	3879472	3879472	C	A	1	0	0	0	0	0	0	0	1	4366	639	23	1		1	DLGAP1	18	3879472	Silent	SNP	C	C3L-00144_TP	957377	3879472	76493813	1496	5775											
EPB41L3	0	.	GRCh38	chr18	5478263	5478263	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatcacaggtatattctGatccatcgagaagtatcact	13	12	6	10	1	3	2	2	1	1	1	5	3	4	2	1	1	1	2	1	1	5	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.359C>A	p.Ser120Ter	p.S120*	ENST00000341928	3/23	200	149	51	180	180	0	strelka-varscan-mutect	EPB41L3,stop_gained,p.Ser120Ter,ENST00000341928,NM_012307.3;EPB41L3,stop_gained,p.Ser120Ter,ENST00000342933,;EPB41L3,stop_gained,p.Ser120Ter,ENST00000400111,;EPB41L3,stop_gained,p.Ser120Ter,ENST00000544123,NM_001281533.1;EPB41L3,stop_gained,p.Ser120Ter,ENST00000540638,NM_001281534.1;EPB41L3,stop_gained,p.Ser11Ter,ENST00000545076,NM_001281535.1;EPB41L3,stop_gained,p.Ser120Ter,ENST00000578503,;EPB41L3,stop_gained,p.Ser120Ter,ENST00000580989,;EPB41L3,stop_gained,p.Ser120Ter,ENST00000584651,;EPB41L3,stop_gained,p.Ser120Ter,ENST00000584015,;EPB41L3,stop_gained,p.Ser120Ter,ENST00000580308,;EPB41L3,intron_variant,,ENST00000584670,;EPB41L3,downstream_gene_variant,,ENST00000581833,;EPB41L3,downstream_gene_variant,,ENST00000585142,;EPB41L3,downstream_gene_variant,,ENST00000582592,;EPB41L3,downstream_gene_variant,,ENST00000582703,;EPB41L3,downstream_gene_variant,,ENST00000580179,;RP11-286N3.1,intron_variant,,ENST00000577527,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581454,;EPB41L3,downstream_gene_variant,,ENST00000578431,;EPB41L3,stop_gained,p.Ser11Ter,ENST00000637651,;EPB41L3,3_prime_UTR_variant,,ENST00000580866,;	T	ENST00000341928	Transcript	stop_gained	700/4706	359/3264	120/1087	S/*	tCa/tAa		1		-1	EPB41L3	HGNC	HGNC:3380	protein_coding	YES	CCDS11838.1	ENSP00000343158	Q9Y2J2		UPI0000129AFA	NM_012307.3			3/23		PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,Pfam_domain:PF09379,Gene3D:3.10.20.90,SMART_domains:SM00295,Superfamily_domains:SSF54236																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	5478263	5478263	G	T	1	0	0	0	0	0	1	0	0	5001	1294	45	2		2	EPB41L3	18	5478263	Nonsense_Mutation	SNP	G	C3L-00144_TP	1598791	5478263	74895022	1497	5776											
MTCL1	0	.	GRCh38	chr18	8783787	8783787	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcttgggccggaagatCgtggagctggaggtggagaa	11	7	17	6	2	1	2	0	0	1	2	2	6	1	5	1	6	2	1	1	6	3	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.675C>A	p.=	p.I225I	ENST00000359865	6/17	126	87	39	91	91	0	strelka-varscan-mutect	MTCL1,synonymous_variant,p.=,ENST00000359865,NM_015210.3;MTCL1,synonymous_variant,p.=,ENST00000400050,;MTCL1,synonymous_variant,p.=,ENST00000517570,;MTCL1,synonymous_variant,p.=,ENST00000306329,;MTCL1,upstream_gene_variant,,ENST00000521018,;MTCL1,upstream_gene_variant,,ENST00000523811,;MTCL1,synonymous_variant,p.=,ENST00000520495,;MTCL1,upstream_gene_variant,,ENST00000517554,;	A	ENST00000359865	Transcript	synonymous_variant	817/6093	675/4761	225/1586	I	atC/atA		1		1	MTCL1	HGNC	HGNC:29121	protein_coding	YES	CCDS11841.1	ENSP00000352927	Q9Y4B5		UPI0000456B5B	NM_015210.3			6/17		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF11365,hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF3																	LOW	1	SNV	2			1										PASS		rs894694031	.												A	2	1	12	8783787	8783787	C	A	1	0	0	0	0	0	0	0	1	9900	874	31	1		1	MTCL1	18	8783787	Silent	SNP	C	C3L-00144_TP	3305524	8783787	71589498	1498	5777											
APCDD1	0	.	GRCh38	chr18	10487846	10487846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacgggtccagcccagacagGccagagaagagagccacgtc	12	2	14	13	2	0	3	0	0	0	3	2	6	1	3	4	2	2	0	4	2	1	0	rs560171977		C3L-00144_TP	C3L-00144_NB	G	G																c.1353G>T	p.Arg451Ser	p.R451S	ENST00000355285	5/5	152	99	53	158	157	1	strelka-varscan-mutect	APCDD1,missense_variant,p.Arg451Ser,ENST00000355285,NM_153000.4;APCDD1,downstream_gene_variant,,ENST00000578882,;APCDD1,3_prime_UTR_variant,,ENST00000423585,;APCDD1,downstream_gene_variant,,ENST00000579685,;APCDD1,downstream_gene_variant,,ENST00000582723,;	T	ENST00000355285	Transcript	missense_variant	1707/3809	1353/1545	451/514	R/S	agG/agT	rs560171977	1		1	APCDD1	HGNC	HGNC:15718	protein_coding	YES	CCDS11849.1	ENSP00000347433	Q8J025		UPI000000D766	NM_153000.4	tolerated(0.18)		5/5		Pfam_domain:PF14921,hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF2,SMART_domains:SM01352																	MODERATE	1	SNV	1			1										PASS		rs560171977	.												T	3	4	12	10487846	10487846	G	T	1	0	0	0	0	1	0	0	0	885	1194	42	2		2	APCDD1	18	10487846	Missense_Mutation	SNP	G	C3L-00144_TP	1704059	10487846	69885439	1499	5778											
GREB1L	0	.	GRCh38	chr18	21508465	21508465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcctaaaccttttccacGccatggagggcatcagccac	10	8	8	15	1	1	0	1	0	0	0	3	2	3	1	5	2	2	1	5	2	2	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.4609G>T	p.Ala1537Ser	p.A1537S	ENST00000580732	27/33	454	314	140	385	385	0	strelka-varscan-mutect	GREB1L,missense_variant,p.Ala1537Ser,ENST00000580732,;GREB1L,missense_variant,p.Ala1537Ser,ENST00000424526,NM_001142966.1;GREB1L,missense_variant,p.Ala1428Ser,ENST00000269218,;GREB1L,non_coding_transcript_exon_variant,,ENST00000578955,;	T	ENST00000580732	Transcript	missense_variant	4990/8749	4609/5772	1537/1923	A/S	Gcc/Tcc		1		1	GREB1L	HGNC	HGNC:31042	protein_coding	YES	CCDS45836.1	ENSP00000464162	Q9C091		UPI0001642876		deleterious(0)		27/33		Pfam_domain:PF15782,hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF12																	MODERATE	1	SNV	5			1										PASS		rs1211371878	.												T	3	4	12	21508465	21508465	G	T	1	0	0	0	0	1	0	0	0	6640	1087	38	1		1	GREB1L	18	21508465	Missense_Mutation	SNP	G	C3L-00144_TP	11020619	21508465	58864820	1500	5779											
DSC1	0	.	GRCh38	chr18	31154800	31154800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcatatttctcacggtCaatgctccttgtacaaaaga	11	14	6	10	1	3	1	3	0	1	1	5	1	4	1	1	1	2	3	1	1	5	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.601G>T	p.Asp201Tyr	p.D201Y	ENST00000257198	5/16	145	99	46	155	154	1	strelka-varscan-mutect	DSC1,missense_variant,p.Asp201Tyr,ENST00000257197,NM_004948.3;DSC1,missense_variant,p.Asp201Tyr,ENST00000257198,NM_024421.2;DSCAS,intron_variant,,ENST00000581836,;	A	ENST00000257198	Transcript	missense_variant	863/4225	601/2685	201/894	D/Y	Gac/Tac		1		-1	DSC1	HGNC	HGNC:3035	protein_coding	YES	CCDS11894.1	ENSP00000257198	Q08554		UPI000006DF10	NM_024421.2	deleterious(0)		5/16		PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF8,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	31154800	31154800	C	A	1	0	0	0	0	1	0	0	0	4586	826	29	2		2	DSC1	18	31154800	Missense_Mutation	SNP	C	C3L-00144_TP	9646335	31154800	49218485	1501	5780											
RNF165	0	.	GRCh38	chr18	46433380	46433380	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaccagtcgctgaccccGctgcccaccctgcagttcca	6	7	8	20	2	0	1	0	1	0	0	2	1	1	1	6	0	3	5	6	0	0	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.252G>T	p.=	p.P84P	ENST00000269439	2/8	353	232	121	290	288	2	strelka-varscan-mutect	RNF165,synonymous_variant,p.=,ENST00000269439,NM_152470.2;RNF165,synonymous_variant,p.=,ENST00000593230,;RNF165,intron_variant,,ENST00000543885,NM_001256758.1;RNF165,intron_variant,,ENST00000586604,;	T	ENST00000269439	Transcript	synonymous_variant	303/7596	252/1041	84/346	P	ccG/ccT		1		1	RNF165	HGNC	HGNC:31696	protein_coding	YES	CCDS32823.1	ENSP00000269439	Q6ZSG1	A0A059NXK6	UPI00001C0E38	NM_152470.2			2/8		hmmpanther:PTHR22763:SF76,hmmpanther:PTHR22763																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	12	46433380	46433380	G	T	1	0	0	0	0	0	0	0	1	13633	1074	38	1		1	RNF165	18	46433380	Silent	SNP	G	C3L-00144_TP	15278580	46433380	33939905	1502	5781											
CTIF	0	.	GRCh38	chr18	48663800	48663800	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgggcacggacatctggGcggccaacaccttcgattcc	7	8	12	14	3	1	0	0	0	1	0	3	2	2	1	3	4	2	2	3	4	1	2	rs539460174		C3L-00144_TP	C3L-00144_NB	G	G																c.301G>C	p.Ala101Pro	p.A101P	ENST00000382998	5/13	252	175	77	252	252	0	strelka-varscan-mutect	CTIF,missense_variant,p.Ala101Pro,ENST00000256413,NM_014772.2;CTIF,missense_variant,p.Ala101Pro,ENST00000382998,NM_001142397.1;CTIF,missense_variant,p.Ala101Pro,ENST00000591387,;CTIF,missense_variant,p.Ala101Pro,ENST00000587752,;CTIF,missense_variant,p.Ala101Pro,ENST00000588345,;CTIF,missense_variant,p.Ala117Pro,ENST00000591412,;CTIF,non_coding_transcript_exon_variant,,ENST00000589585,;RP11-426J5.1,upstream_gene_variant,,ENST00000623145,;	C	ENST00000382998	Transcript	missense_variant	558/4407	301/1803	101/600	A/P	Gcg/Ccg	rs539460174	1		1	CTIF	HGNC	HGNC:23925	protein_coding	YES	CCDS45864.1	ENSP00000372459	O43310		UPI0000074650	NM_001142397.1	deleterious_low_confidence(0)		5/13																			MODERATE	1	SNV	1			1										PASS		rs539460174	.												C	3	2	12	48663800	48663800	G	C	1	0	0	0	0	1	0	0	0	3819	1203	42	4		4	CTIF	18	48663800	Missense_Mutation	SNP	G	C3L-00144_TP	2230420	48663800	31709485	1503	5782											
C18orf54	0	.	GRCh38	chr18	54362325	54362325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacttttcaaattccttGagtgatgataaagaattagt	15	15	6	5	0	2	4	2	3	0	1	3	4	3	4	1	0	1	0	1	0	6	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.966G>T	p.Leu322Phe	p.L322F	ENST00000620105	4/9	117	86	31	103	103	0	strelka-varscan-mutect	C18orf54,missense_variant,p.Leu322Phe,ENST00000620105,NM_001288981.1,NM_001288980.1;C18orf54,missense_variant,p.Leu322Phe,ENST00000382911,;C18orf54,intron_variant,,ENST00000300091,NM_173529.5,NM_001288982.1;C18orf54,intron_variant,,ENST00000578138,;STARD6,upstream_gene_variant,,ENST00000581310,;STARD6,upstream_gene_variant,,ENST00000577499,;STARD6,upstream_gene_variant,,ENST00000584040,;C18orf54,upstream_gene_variant,,ENST00000582188,;	T	ENST00000620105	Transcript	missense_variant	1268/5693	966/1602	322/533	L/F	ttG/ttT		1		1	C18orf54	HGNC	HGNC:13796	protein_coding	YES	CCDS74223.1	ENSP00000477654	Q8IYD9		UPI000022A74A	NM_001288981.1,NM_001288980.1	tolerated(0.34)		4/9		hmmpanther:PTHR35079:SF1,hmmpanther:PTHR35079																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	54362325	54362325	G	T	1	0	0	0	0	1	0	0	0	1900	1281	45	2		2	C18orf54	18	54362325	Missense_Mutation	SNP	G	C3L-00144_TP	5698525	54362325	26010960	1504	5783											
BOD1L2	0	.	GRCh38	chr18	57147559	57147559	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggataattttgtgtcgacaCatctggacaagcaggaatgg	12	10	12	7	2	1	0	0	0	1	0	2	4	1	3	0	4	1	1	0	4	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.247C>A	p.His83Asn	p.H83N	ENST00000585477	1/1	265	187	78	241	241	0	strelka-varscan-mutect	BOD1L2,missense_variant,p.His83Asn,ENST00000585477,NM_001257964.1;CTD-2526M8.3,upstream_gene_variant,,ENST00000590942,;	A	ENST00000585477	Transcript	missense_variant	498/3239	247/519	83/172	H/N	Cat/Aat		1		1	BOD1L2	HGNC	HGNC:28505	protein_coding	YES	CCDS59322.1	ENSP00000467843	Q8IYS8		UPI000006F702	NM_001257964.1	deleterious(0.02)		1/1		PD486480,Pfam_domain:PF05205,hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF5																	MODERATE		SNV				1										PASS		.	.												A	3	1	12	57147559	57147559	C	A	1	0	0	0	0	1	0	0	0	1640	478	17	2		2	BOD1L2	18	57147559	Missense_Mutation	SNP	C	C3L-00144_TP	2785234	57147559	23225726	1505	5784											
PHLPP1	0	.	GRCh38	chr18	62972519	62972519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttgccttgcaggttgtGtgtcgcagccctgtcggtga	3	13	16	9	2	0	1	0	1	0	0	2	1	0	1	2	3	3	4	2	3	0	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3566G>T	p.Cys1189Phe	p.C1189F	ENST00000262719	15/17	62	44	18	59	59	0	strelka-varscan-mutect	PHLPP1,missense_variant,p.Cys1189Phe,ENST00000262719,NM_194449.3;	T	ENST00000262719	Transcript	missense_variant	3800/6390	3566/5154	1189/1717	C/F	tGt/tTt		1		1	PHLPP1	HGNC	HGNC:20610	protein_coding	YES	CCDS45881.2	ENSP00000262719	O60346		UPI000051AE2E	NM_194449.3	deleterious(0)		15/17		Gene3D:3.60.40.10,Pfam_domain:PF00481,PROSITE_profiles:PS51746,SMART_domains:SM00332,Superfamily_domains:SSF81606																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	62972519	62972519	G	T	1	0	0	0	0	1	0	0	0	11942	1391	48	2		2	PHLPP1	18	62972519	Missense_Mutation	SNP	G	C3L-00144_TP	5824960	62972519	17400766	1506	5785											
SERPINB5	0	.	GRCh38	chr18	63503376	63503376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actgtcacagtggactaatcCcagcaccatggccaatgcca	12	7	8	14	0	1	0	1	0	0	0	2	1	2	1	4	2	2	1	4	2	2	1	rs780437142		C3L-00144_TP	C3L-00144_NB	C	C																c.782C>A	p.Pro261His	p.P261H	ENST00000382771	7/7	308	234	74	284	284	0	strelka-varscan-mutect	SERPINB5,missense_variant,p.Pro261His,ENST00000382771,NM_002639.4;SERPINB5,non_coding_transcript_exon_variant,,ENST00000464346,;SERPINB5,downstream_gene_variant,,ENST00000465652,;	A	ENST00000382771	Transcript	missense_variant	1074/2783	782/1128	261/375	P/H	cCc/cAc	rs780437142	1		1	SERPINB5	HGNC	HGNC:8949	protein_coding	YES	CCDS32839.1	ENSP00000372221	P36952	A0A024R2B6	UPI0000201E51	NM_002639.4	deleterious(0)		7/7		Gene3D:2.30.39.10,Pfam_domain:PF00079,Prints_domain:PR00676,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF55,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		rs780437142	.												A	3	1	12	63503376	63503376	C	A	1	0	0	0	0	1	0	0	0	14380	623	22	2		2	SERPINB5	18	63503376	Missense_Mutation	SNP	C	C3L-00144_TP	530857	63503376	16869909	1507	5786											
CDH19	0	.	GRCh38	chr18	66505131	66505132	+	Frame_Shift_Ins	INS	-	-	C																															ggttttccgagtcttgcgttINScccgcattatggtactactc																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.1999dupG	p.Glu667GlyfsTer11	p.E667Gfs*11	ENST00000262150	12/12	110	83	27	106	106	0	sindel-varindel-pindel	CDH19,frameshift_variant,p.Glu667GlyfsTer11,ENST00000262150,NM_021153.3;CDH19,3_prime_UTR_variant,,ENST00000540086,NM_001271028.1;CDH19,3_prime_UTR_variant,,ENST00000579658,;	C	ENST00000262150	Transcript	frameshift_variant	2292-2293/6341	1999-2000/2319	667/772	E/GX	gaa/gGaa		1		-1	CDH19	HGNC	HGNC:1758	protein_coding	YES	CCDS11994.1	ENSP00000262150	Q9H159		UPI0000048ECF	NM_021153.3			12/12		Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF323																	HIGH	1	insertion	1			1										PASS		.	.												C	7	5	12	66505131	66505131	-	C	1	0	1	1	0	0	0	0	0	2807	1783	62	0		0	CDH19	18	66505131	Frame_Shift_Ins	INS	-	C3L-00144_TP	3001755	66505131	13868154	1508	5787											
CDH19	0	.	GRCh38	chr18	66572061	66572061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctctggtacaaaaaattgGttccacacccagccacgctt	11	10	6	14	1	1	0	0	0	1	0	3	0	3	0	4	2	2	3	4	2	4	4	rs759627014		C3L-00144_TP	C3L-00144_NB	G	G																c.144C>A	p.Asn48Lys	p.N48K	ENST00000262150	2/12	148	100	48	114	114	0	strelka-varscan-mutect	CDH19,missense_variant,p.Asn48Lys,ENST00000262150,NM_021153.3;CDH19,missense_variant,p.Asn48Lys,ENST00000540086,NM_001271028.1;CDH19,missense_variant,p.Asn37Lys,ENST00000454642,;CDH19,missense_variant,p.Asn48Lys,ENST00000580157,;CDH19,missense_variant,p.Asn48Lys,ENST00000579658,;	T	ENST00000262150	Transcript	missense_variant	437/6341	144/2319	48/772	N/K	aaC/aaA	rs759627014,COSM1523503,COSM5201509	1		-1	CDH19	HGNC	HGNC:1758	protein_coding	YES	CCDS11994.1	ENSP00000262150	Q9H159		UPI0000048ECF	NM_021153.3	deleterious(0.04)		2/12		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF323											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs759627014	.												T	3	4	12	66572061	66572061	G	T	1	0	0	0	0	1	0	0	0	2807	1252	44	2		2	CDH19	18	66572061	Missense_Mutation	SNP	G	C3L-00144_TP	66930	66572061	13801224	1509	5788											
CBLN2	0	.	GRCh38	chr18	72538655	72538655	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttcaaatctacccacctGgatggtttgtctgttataca	10	15	7	9	0	3	0	1	0	2	0	3	1	3	1	2	2	2	3	2	2	4	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.475C>G	p.Gln159Glu	p.Q159E	ENST00000269503	4/5	155	116	39	126	126	0	strelka-varscan-mutect	CBLN2,missense_variant,p.Gln159Glu,ENST00000269503,NM_182511.3;CBLN2,missense_variant,p.Gln159Glu,ENST00000585159,;CBLN2,missense_variant,p.Gln43Glu,ENST00000584764,;CBLN2,missense_variant,p.Gln45Glu,ENST00000581073,;CBLN2,splice_region_variant,,ENST00000583651,;CBLN2,splice_region_variant,,ENST00000581425,;	C	ENST00000269503	Transcript	missense_variant,splice_region_variant	1249/2945	475/675	159/224	Q/E	Cag/Gag		1		-1	CBLN2	HGNC	HGNC:1544	protein_coding	YES	CCDS11999.1	ENSP00000269503	Q8IUK8	A0A024R380	UPI0000032E73	NM_182511.3	tolerated(0.08)		4/5		PROSITE_profiles:PS50871,hmmpanther:PTHR22923:SF50,hmmpanther:PTHR22923,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	72538655	72538655	G	C	1	0	0	0	0	1	0	0	0	2406	1362	47	4		4	CBLN2	18	72538655	Missense_Mutation	SNP	G	C3L-00144_TP	5966594	72538655	7834630	1510	5789											
AP3D1	0	.	GRCh38	chr19	2132578	2132578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggctggggctgctcaagtCctggaaagtgagagaaaggg	10	7	17	7	0	1	2	1	1	0	1	2	4	2	3	1	5	1	3	1	5	3	0	rs374552258		C3L-00144_TP	C3L-00144_NB	C	C																c.355G>T	p.Asp119Tyr	p.D119Y	ENST00000355272	5/32	221	170	51	158	157	1	strelka-varscan-mutect	AP3D1,missense_variant,p.Asp119Tyr,ENST00000355272,NM_001261826.1;AP3D1,missense_variant,p.Asp119Tyr,ENST00000345016,NM_003938.6;AP3D1,splice_region_variant,,ENST00000591284,;AP3D1,upstream_gene_variant,,ENST00000590683,;	A	ENST00000355272	Transcript	missense_variant,splice_region_variant	562/5034	355/3648	119/1215	D/Y	Gac/Tac	rs374552258	1		-1	AP3D1	HGNC	HGNC:568	protein_coding	YES	CCDS58638.1	ENSP00000347416	O14617		UPI0000202F99	NM_001261826.1	deleterious(0)		5/32		hmmpanther:PTHR22781,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037092,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs374552258	.												A	3	1	12	2132578	2132578	C	A	1	0	0	0	0	1	0	0	0	862	869	30	2		2	AP3D1	19	2132578	Missense_Mutation	SNP	C	C3L-00144_TP		2132578	56485038	1511	5790											
TMPRSS9	0	.	GRCh38	chr19	2399070	2399070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctgcactttctgctgcgaCccctccagacgctgagcctg	6	9	10	16	2	1	2	0	1	1	1	2	3	2	2	4	0	5	4	4	0	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.289C>A	p.Pro97Thr	p.P97T	ENST00000332578	3/17	237	219	18	208	207	1	strelka-varscan-mutect	TMPRSS9,missense_variant,p.Pro97Thr,ENST00000332578,NM_182973.1;TMPRSS9,missense_variant,p.Pro97Thr,ENST00000613480,;TMPRSS9,downstream_gene_variant,,ENST00000592650,;TMPRSS9,non_coding_transcript_exon_variant,,ENST00000395264,;	A	ENST00000332578	Transcript	missense_variant	289/3331	289/3180	97/1059	P/T	Ccc/Acc		1		1	TMPRSS9	HGNC	HGNC:30079	protein_coding	YES	CCDS12088.1	ENSP00000330264	Q7Z410		UPI00001B4EC6	NM_182973.1	tolerated(0.47)		3/17		PIRSF_domain:PIRSF037931																	MODERATE	1	SNV	1			1										PASS		rs1329684326	.												A	3	1	12	2399070	2399070	C	A	1	0	0	0	0	1	0	0	0	16729	507	18	2		2	TMPRSS9	19	2399070	Missense_Mutation	SNP	C	C3L-00144_TP	266492	2399070	56218546	1512	5791											
ZNF554	0	.	GRCh38	chr19	2834192	2834192	+	Frame_Shift_Del	DEL	G	G	-																															atccacaacaaaatcaacacGgcagagaaaccctttgagtg																								rs200374686		C3L-00144_TP	C3L-00144_NB	G	G																c.958delG	p.Ala320GlnfsTer20	p.A320Qfs*20	ENST00000317243	5/5	184	162	22	173	173	0	sindel-varindel-pindel	ZNF554,frameshift_variant,p.Ala320GlnfsTer20,ENST00000317243,NM_001102651.1;ZNF554,downstream_gene_variant,,ENST00000591265,;ZNF554,3_prime_UTR_variant,,ENST00000590116,;ZNF554,non_coding_transcript_exon_variant,,ENST00000588534,;	-	ENST00000317243	Transcript	frameshift_variant	1155/2736	957/1617	319/538	T/X	acG/ac	rs200374686	1		1	ZNF554	HGNC	HGNC:26629	protein_coding	YES	CCDS42462.1	ENSP00000321132	Q86TJ5		UPI000000DC5D	NM_001102651.1			5/5		Gene3D:3.30.160.60,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF56,Superfamily_domains:SSF57667																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	12	2834192	2834192	G	-	1	0	1	0	1	0	0	0	0	18559	1103	39	0		0	ZNF554	19	2834192	Frame_Shift_Del	DEL	G	C3L-00144_TP	435122	2834192	55783424	1513	5792											
SMIM24	0	.	GRCh38	chr19	3480417	3480417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgctgggcctccaccgggGagaggagcagaaactccagc	9	4	14	14	1	0	2	0	0	0	2	2	4	2	3	5	4	4	2	5	4	1	0	rs750433493		C3L-00144_TP	C3L-00144_NB	G	G																c.47C>A	p.Ser16Tyr	p.S16Y	ENST00000215531	1/4	83	71	12	95	95	0	strelka-varscan-mutect	SMIM24,missense_variant,p.Ser16Tyr,ENST00000215531,NM_001136503.1;SMIM24,upstream_gene_variant,,ENST00000587847,;SMIM24,upstream_gene_variant,,ENST00000591708,;SMIM24,non_coding_transcript_exon_variant,,ENST00000586804,;	T	ENST00000215531	Transcript	missense_variant	126/1329	47/393	16/130	S/Y	tCc/tAc	rs750433493	1		-1	SMIM24	HGNC	HGNC:37244	protein_coding	YES	CCDS45915.1	ENSP00000215531	O75264		UPI000015B2DA	NM_001136503.1	deleterious(0.01)		1/4		Pfam_domain:PF15807,hmmpanther:PTHR15296,hmmpanther:PTHR15296:SF2,Cleavage_site_(Signalp):SignalP-TM																	MODERATE	1	SNV	1			1										PASS		rs750433493	.												T	3	4	12	3480417	3480417	G	T	1	0	0	0	0	1	0	0	0	15110	1174	41	2		2	SMIM24	19	3480417	Missense_Mutation	SNP	G	C3L-00144_TP	646225	3480417	55137199	1514	5793											
SHD	0	.	GRCh38	chr19	4290539	4290539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggcccttccccagcgtgcCcgagctcgtcctccactaca	5	7	9	20	4	0	0	0	0	0	0	4	1	3	0	6	1	4	1	6	1	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.929C>A	p.Pro310His	p.P310H	ENST00000543264	6/6	224	138	86	192	192	0	strelka-varscan-mutect	SHD,missense_variant,p.Pro310His,ENST00000543264,NM_020209.3;SHD,missense_variant,p.Pro270His,ENST00000599689,;TMIGD2,downstream_gene_variant,,ENST00000301272,NM_144615.2;TMIGD2,downstream_gene_variant,,ENST00000595645,NM_001169126.1;TMIGD2,downstream_gene_variant,,ENST00000600114,NM_001308232.1;TMIGD2,downstream_gene_variant,,ENST00000600349,;SHD,downstream_gene_variant,,ENST00000600475,;SHD,3_prime_UTR_variant,,ENST00000593383,;SHD,non_coding_transcript_exon_variant,,ENST00000597466,;	A	ENST00000543264	Transcript	missense_variant	2392/2577	929/1023	310/340	P/H	cCc/cAc		1		1	SHD	HGNC	HGNC:30633	protein_coding	YES	CCDS12125.1	ENSP00000446058	Q96IW2		UPI000007030D	NM_020209.3	deleterious(0)		6/6		PROSITE_profiles:PS50001,hmmpanther:PTHR15127,hmmpanther:PTHR15127:SF33,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	4290539	4290539	C	A	1	0	0	0	0	1	0	0	0	14535	623	22	2		2	SHD	19	4290539	Missense_Mutation	SNP	C	C3L-00144_TP	810122	4290539	54327077	1515	5794											
KDM4B	0	.	GRCh38	chr19	5150358	5150358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagccacatccccctgcagGtggagtttgaggacgggtcc	8	7	14	12	1	0	2	0	1	0	1	2	4	2	4	4	4	2	2	4	4	0	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3022G>T	p.Val1008Leu	p.V1008L	ENST00000159111	22/23	156	121	35	128	128	0	strelka-varscan-mutect	KDM4B,missense_variant,p.Val1042Leu,ENST00000611640,;KDM4B,missense_variant,p.Val1008Leu,ENST00000159111,NM_015015.2;KDM4B,missense_variant,p.Val1042Leu,ENST00000536461,;KDM4B,splice_region_variant,,ENST00000589104,;	T	ENST00000159111	Transcript	missense_variant,splice_region_variant	3240/5593	3022/3291	1008/1096	V/L	Gtg/Ttg		1		1	KDM4B	HGNC	HGNC:29136	protein_coding	YES	CCDS12138.1	ENSP00000159111		A0A0C4DFL8	UPI000023B7FC	NM_015015.2	deleterious(0.01)		22/23		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF30,SMART_domains:SM00333,Superfamily_domains:SSF63748																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	5150358	5150358	G	T	1	0	0	0	0	1	0	0	0	8047	1275	44	2		2	KDM4B	19	5150358	Missense_Mutation	SNP	G	C3L-00144_TP	859819	5150358	53467258	1516	5795											
ARHGEF18	0	.	GRCh38	chr19	7444324	7444324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggccgcctcttcccatGcgctgacgacctgctggaga	6	9	11	15	3	1	2	0	1	1	1	2	4	2	2	4	2	2	2	4	2	0	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.917G>T	p.Cys306Phe	p.C306F	ENST00000359920	4/20	399	253	146	351	349	2	strelka-varscan-mutect	ARHGEF18,missense_variant,p.Cys306Phe,ENST00000359920,NM_001130955.1;ARHGEF18,missense_variant,p.Cys148Phe,ENST00000319670,NM_015318.3;CTD-2207O23.3,missense_variant,p.Cys240Phe,ENST00000617428,;ARHGEF18,upstream_gene_variant,,ENST00000594665,;ARHGEF18,downstream_gene_variant,,ENST00000599752,;ARHGEF18,non_coding_transcript_exon_variant,,ENST00000595600,;	T	ENST00000359920	Transcript	missense_variant	1170/5733	917/3522	306/1173	C/F	tGc/tTc		1		1	ARHGEF18	HGNC	HGNC:17090	protein_coding	YES	CCDS45946.1	ENSP00000352995	Q6ZSZ5		UPI0000D6170D	NM_001130955.1	deleterious(0.01)		4/20		PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF120,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	12	7444324	7444324	G	T	1	0	0	0	0	1	0	0	0	1031	1319	46	2		2	ARHGEF18	19	7444324	Missense_Mutation	SNP	G	C3L-00144_TP	2293966	7444324	51173292	1517	5796											
CLEC4G	0	.	GRCh38	chr19	7731302	7731302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgtggccgtcaagcagcgCcgcgcgctccgtggaggctg	4	6	17	14	7	1	0	1	0	0	0	3	1	2	1	3	3	2	3	3	3	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.184G>A	p.Ala62Thr	p.A62T	ENST00000328853	3/9	182	154	28	134	134	0	strelka-varscan-mutect	CLEC4G,missense_variant,p.Ala62Thr,ENST00000328853,NM_198492.3,NM_001244856.1;CLEC4G,missense_variant,p.Ala104Thr,ENST00000599020,;CLEC4G,non_coding_transcript_exon_variant,,ENST00000598081,;	T	ENST00000328853	Transcript	missense_variant	253/1360	184/882	62/293	A/T	Gcg/Acg		1		-1	CLEC4G	HGNC	HGNC:24591	protein_coding	YES	CCDS12185.1	ENSP00000327599	Q6UXB4	Q08G24	UPI000004C65D	NM_198492.3,NM_001244856.1	tolerated(0.33)		3/9		hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF245																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	7731302	7731302	C	T	1	0	0	0	0	1	0	0	0	3285	739	26	3		3	CLEC4G	19	7731302	Missense_Mutation	SNP	C	C3L-00144_TP	286978	7731302	50886314	1518	5797											
ELAVL1	0	.	GRCh38	chr19	7963656	7963656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcactttcacattggtgaCggcaccaaacggcccaaaca	13	7	8	13	2	2	1	2	1	0	0	2	2	2	1	2	3	2	1	2	3	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.808G>T	p.Val270Phe	p.V270F	ENST00000407627	6/6	360	237	123	306	305	1	strelka-varscan-mutect	ELAVL1,missense_variant,p.Val270Phe,ENST00000407627,NM_001419.2;ELAVL1,missense_variant,p.Val270Phe,ENST00000596459,;ELAVL1,3_prime_UTR_variant,,ENST00000593807,;ELAVL1,intron_variant,,ENST00000596154,;CTD-3193O13.14,downstream_gene_variant,,ENST00000595107,;	A	ENST00000407627	Transcript	missense_variant	938/6015	808/981	270/326	V/F	Gtc/Ttc		1		-1	ELAVL1	HGNC	HGNC:3312	protein_coding	YES	CCDS12193.1	ENSP00000385269	Q15717		UPI0000129E74	NM_001419.2	deleterious(0)		6/6		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF351,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	7963656	7963656	C	A	1	0	0	0	0	1	0	0	0	4882	536	19	1		1	ELAVL1	19	7963656	Missense_Mutation	SNP	C	C3L-00144_TP	232354	7963656	50653960	1519	5798											
MUC16	0	.	GRCh38	chr19	8903193	8903193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggctggggagggaggatgGagtccctgaggtcccaaggt	8	6	20	7	0	0	1	0	1	0	0	2	5	2	5	2	8	0	1	2	8	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.38521C>A	p.Pro12841Thr	p.P12841T	ENST00000397910	33/84	157	114	43	155	155	0	strelka-varscan-mutect	MUC16,missense_variant,p.Pro12841Thr,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	38725/43816	38521/43524	12841/14507	P/T	Cca/Aca		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			33/84		Low_complexity_(Seg):seg,hmmpanther:PTHR14672																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	8903193	8903193	G	T	1	0	0	0	0	1	0	0	0	9972	1174	41	2		2	MUC16	19	8903193	Missense_Mutation	SNP	G	C3L-00144_TP	939537	8903193	49714423	1520	5799											
MUC16	0	.	GRCh38	chr19	8937108	8937108	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taattcactgtgggaaaaccTtgaggttgtcctgggaagag	11	11	13	6	0	1	2	1	1	0	1	2	4	2	4	2	3	1	1	2	3	4	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.33847A>T	p.Arg11283Trp	p.R11283W	ENST00000397910	5/84	202	147	55	165	164	1	strelka-varscan-mutect	MUC16,missense_variant,p.Arg11283Trp,ENST00000397910,NM_024690.2;	A	ENST00000397910	Transcript	missense_variant	34051/43816	33847/43524	11283/14507	R/W	Agg/Tgg		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			5/84																			MODERATE	1	SNV	5			1										PASS		rs1230555820	.												A	3	1	12	8937108	8937108	T	A	1	0	0	0	0	1	0	0	0	9972	1608	56	4		4	MUC16	19	8937108	Missense_Mutation	SNP	T	C3L-00144_TP	33915	8937108	49680508	1521	5800											
MUC16	0	.	GRCh38	chr19	8946055	8946055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaggttatcccagtggactCcgtaatagatggagaagcat	12	9	13	7	1	0	2	0	0	0	2	2	5	2	4	2	4	1	3	2	4	4	3			C3L-00144_TP	C3L-00144_NB	C	C																c.30715G>A	p.Glu10239Lys	p.E10239K	ENST00000397910	3/84	104	56	48	92	91	1	strelka-varscan-mutect	MUC16,missense_variant,p.Glu10239Lys,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	30919/43816	30715/43524	10239/14507	E/K	Gag/Aag	COSM384915,COSM384916	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84													1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	12	8946055	8946055	C	T	1	0	0	0	0	1	0	0	0	9972	864	30	3		3	MUC16	19	8946055	Missense_Mutation	SNP	C	C3L-00144_TP	8947	8946055	49671561	1522	5801											
MUC16	0	.	GRCh38	chr19	8952762	8952762	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccagacgtgaggagtGaagtcacaggaagaggagag	15	3	16	7	1	1	5	1	2	0	3	1	8	1	7	2	3	1	0	2	3	3	0			C3L-00144_TP	C3L-00144_NB	G	G																c.24008C>A	p.Ser8003Ter	p.S8003*	ENST00000397910	3/84	141	122	19	145	145	0	strelka-varscan-mutect	MUC16,stop_gained,p.Ser8003Ter,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	stop_gained	24212/43816	24008/43524	8003/14507	S/*	tCa/tAa	COSM3542522,COSM3542523,COSM3542524	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84		Low_complexity_(Seg):seg											1,1,1						HIGH	1	SNV	5		1,1,1	1										PASS		.	.												T	4	4	12	8952762	8952762	G	T	1	0	0	0	0	0	1	0	0	9972	1294	45	2		2	MUC16	19	8952762	Nonsense_Mutation	SNP	G	C3L-00144_TP	6707	8952762	49664854	1523	5802											
MUC16	0	.	GRCh38	chr19	8955222	8955222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaatctccacattggacGctgctgtgtttgtggaagga	8	12	14	7	1	1	0	0	0	1	0	2	4	1	4	1	4	1	3	1	4	2	2	rs370133928		C3L-00144_TP	C3L-00144_NB	G	G																c.21548C>A	p.Ala7183Glu	p.A7183E	ENST00000397910	3/84	103	72	31	91	91	0	strelka-varscan-mutect	MUC16,missense_variant,p.Ala7183Glu,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	21752/43816	21548/43524	7183/14507	A/E	gCg/gAg	rs370133928,COSM4138277,COSM4138278,COSM4138279	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84													0,1,1,1						MODERATE	1	SNV	5		0,1,1,1	1										PASS		rs370133928	.												T	3	4	12	8955222	8955222	G	T	1	0	0	0	0	1	0	0	0	9972	1087	38	1		1	MUC16	19	8955222	Missense_Mutation	SNP	G	C3L-00144_TP	2460	8955222	49662394	1524	5803											
MUC16	0	.	GRCh38	chr19	8980131	8980131	+	Silent	SNP	T	T	C																															accctttcggcacttgtttcTgcattgcttagtgtcatgga																								novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1008A>G	p.=	p.A336A	ENST00000397910	1/84	313	293	20	272	272	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	C	ENST00000397910	Transcript	synonymous_variant	1212/43816	1008/43524	336/14507	A	gcA/gcG		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84																			LOW	1	SNV	5			1										PASS		.	.												C	2	2	12	8980131	8980131	T	C	1	0	0	0	0	0	0	0	1	9972	1567	55	5		5	MUC16	19	8980131	Silent	SNP	T	C3L-00144_TP	24909	8980131	49637485	1525	5804	131	2									
MUC16	0	.	GRCh38	chr19	8980132	8980132	+	Missense_Mutation	SNP	G	G	T																															ccctttcggcacttgtttctGcattgcttagtgtcatggaa																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1007C>A	p.Ala336Glu	p.A336E	ENST00000397910	1/84	311	290	21	275	273	2	strelka-varscan-mutect	MUC16,missense_variant,p.Ala336Glu,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	1211/43816	1007/43524	336/14507	A/E	gCa/gAa		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	8980132	8980132	G	T	1	0	0	0	0	1	0	0	0	9972	1319	46	2		2	MUC16	19	8980132	Missense_Mutation	SNP	G	C3L-00144_TP	1	8980132	49637484	1526	5805	131	2									
OR1M1	0	.	GRCh38	chr19	9093446	9093446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctggccaacctgtccCtggttgatttctgtctggcc	3	15	9	14	0	3	1	0	1	3	0	5	1	5	1	5	3	1	1	5	3	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.202C>A	p.Leu68Met	p.L68M	ENST00000429566	1/1	128	80	48	98	98	0	strelka-varscan-mutect	OR1M1,missense_variant,p.Leu68Met,ENST00000429566,NM_001004456.1;	A	ENST00000429566	Transcript	missense_variant	268/1035	202/942	68/313	L/M	Ctg/Atg		1		1	OR1M1	HGNC	HGNC:8220	protein_coding	YES	CCDS32896.1	ENSP00000401966	Q8NGA1		UPI0000041C29	NM_001004456.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF295,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	12	9093446	9093446	C	A	1	0	0	0	0	1	0	0	0	11046	680	24	2		2	OR1M1	19	9093446	Missense_Mutation	SNP	C	C3L-00144_TP	113314	9093446	49524170	1527	5806											
OR7G1	0	.	GRCh38	chr19	9115483	9115483	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgggtgaggcagcctgtgTaagtgatactctgattctga	8	13	13	7	0	3	4	0	4	3	0	3	4	3	4	1	2	2	2	1	2	2	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.281A>T	p.Tyr94Phe	p.Y94F	ENST00000541538	1/1	207	128	79	167	167	0	strelka-varscan-mutect	OR7G1,missense_variant,p.Tyr94Phe,ENST00000541538,NM_001005192.2;	A	ENST00000541538	Transcript	missense_variant	281/936	281/936	94/311	Y/F	tAc/tTc		1		-1	OR7G1	HGNC	HGNC:8465	protein_coding	YES	CCDS32898.2	ENSP00000444134	Q8NGA0	A0A126GVS6	UPI0000041C27	NM_001005192.2	deleterious(0.03)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF320,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs151211604	.												A	3	1	12	9115483	9115483	T	A	1	0	0	0	0	1	0	0	0	11292	1638	57	4		4	OR7G1	19	9115483	Missense_Mutation	SNP	T	C3L-00144_TP	22037	9115483	49502133	1528	5807											
ZNF560	0	.	GRCh38	chr19	9469117	9469117	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttaccaactgtatcccAtttaatgtttttaaacaaaa	16	15	2	8	0	1	0	0	0	1	0	2	0	2	0	2	0	3	2	2	0	9	7	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.600T>A	p.Asn200Lys	p.N200K	ENST00000301480	9/10	191	135	56	213	211	2	strelka-varscan-mutect	ZNF560,missense_variant,p.Asn200Lys,ENST00000301480,NM_152476.2;ZNF560,non_coding_transcript_exon_variant,,ENST00000585974,;	T	ENST00000301480	Transcript	missense_variant	814/2654	600/2373	200/790	N/K	aaT/aaA		1		-1	ZNF560	HGNC	HGNC:26484	protein_coding	YES	CCDS12214.1	ENSP00000301480	Q96MR9		UPI000013E720	NM_152476.2	deleterious(0.02)		9/10																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	9469117	9469117	A	T	1	0	0	0	0	1	0	0	0	18565	214	8	4		4	ZNF560	19	9469117	Missense_Mutation	SNP	A	C3L-00144_TP	353634	9469117	49148499	1529	5808											
COL5A3	0	.	GRCh38	chr19	9985859	9985859	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttaggtccagggcgtcCtggataacctgggaggcctg	7	9	14	11	1	0	0	0	0	0	0	2	2	2	2	5	5	2	0	5	5	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2389G>T	p.Gly797Ter	p.G797*	ENST00000264828	31/67	136	94	42	102	102	0	strelka-varscan-mutect	COL5A3,stop_gained,p.Gly797Ter,ENST00000264828,NM_015719.3;	A	ENST00000264828	Transcript	stop_gained	2475/6174	2389/5238	797/1745	G/*	Gga/Tga		1		-1	COL5A3	HGNC	HGNC:14864	protein_coding	YES	CCDS12222.1	ENSP00000264828	P25940		UPI00002032A3	NM_015719.3			31/67		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF516																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	9985859	9985859	C	A	1	0	0	0	0	0	1	0	0	3487	690	24	2		2	COL5A3	19	9985859	Nonsense_Mutation	SNP	C	C3L-00144_TP	516742	9985859	48631757	1530	5809											
RDH8	0	.	GRCh38	chr19	10018761	10018761	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaatgggcctggtggggcCcctggaggggctcagccttg	4	8	19	10	0	1	0	1	0	0	0	1	2	1	2	4	8	1	1	4	8	1	1			C3L-00144_TP	C3L-00144_NB	C	C																c.353C>A	p.Pro118His	p.P118H	ENST00000591589	3/6	92	71	21	78	77	1	strelka-varscan-mutect	RDH8,missense_variant,p.Pro118His,ENST00000591589,NM_015725.2;RDH8,upstream_gene_variant,,ENST00000587782,;RDH8,intron_variant,,ENST00000589570,;	A	ENST00000591589	Transcript	missense_variant	542/1715	353/996	118/331	P/H	cCc/cAc	COSM4489847,COSM4489848	1		1	RDH8	HGNC	HGNC:14423	protein_coding	YES	CCDS12223.2	ENSP00000466058		K7ELF7	UPI000059D661	NM_015725.2	deleterious(0)		3/6		hmmpanther:PTHR24322:SF323,hmmpanther:PTHR24322,Pfam_domain:PF00106,PIRSF_domain:PIRSF000095,Gene3D:3.40.50.720,Superfamily_domains:SSF51735											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	12	10018761	10018761	C	A	1	0	0	0	0	1	0	0	0	13365	623	22	2		2	RDH8	19	10018761	Missense_Mutation	SNP	C	C3L-00144_TP	32902	10018761	48598855	1531	5810											
CACNA1A	0	.	GRCh38	chr19	13298683	13298683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccgccccgggccggccGgctgccctcgcggtgccgcg	0	4	16	21	9	0	0	0	0	0	0	2	0	0	0	7	4	2	1	7	4	0	0	rs768873463		C3L-00144_TP	C3L-00144_NB	G	G																c.2950C>T	p.Arg984Trp	p.R984W	ENST00000360228	19/47	134	102	32	141	141	0	strelka-varscan-mutect	CACNA1A,missense_variant,p.Arg985Trp,ENST00000638009,NM_001127221.1;CACNA1A,missense_variant,p.Arg985Trp,ENST00000635895,;CACNA1A,missense_variant,p.Arg985Trp,ENST00000637769,;CACNA1A,missense_variant,p.Arg984Trp,ENST00000360228,NM_001127222.1;CACNA1A,missense_variant,p.Arg988Trp,ENST00000614285,;CACNA1A,missense_variant,p.Arg938Trp,ENST00000637736,;CACNA1A,missense_variant,p.Arg985Trp,ENST00000636389,;CACNA1A,missense_variant,p.Arg988Trp,ENST00000638029,NM_023035.2;CACNA1A,missense_variant,p.Arg988Trp,ENST00000637432,NM_000068.3;CACNA1A,missense_variant,p.Arg986Trp,ENST00000573710,;CACNA1A,missense_variant,p.Arg985Trp,ENST00000635727,;CACNA1A,missense_variant,p.Arg985Trp,ENST00000636012,;CACNA1A,missense_variant,p.Arg985Trp,ENST00000637276,;CACNA1A,missense_variant,p.Arg986Trp,ENST00000637927,;CACNA1A,missense_variant,p.Arg985Trp,ENST00000636549,NM_001174080.1;	A	ENST00000360228	Transcript	missense_variant	3185/8627	2950/7521	984/2506	R/W	Cgg/Tgg	rs768873463	1		-1	CACNA1A	HGNC	HGNC:1388	protein_coding	YES	CCDS45998.1	ENSP00000353362	O00555		UPI0000141565	NM_001127222.1	deleterious(0)		19/47		Low_complexity_(Seg):seg,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59																	MODERATE	1	SNV	1			1										PASS		rs768873463	.												A	3	1	12	13298683	13298683	G	A	1	0	0	0	0	1	0	0	0	2226	1115	39	1		1	CACNA1A	19	13298683	Missense_Mutation	SNP	G	C3L-00144_TP	3279922	13298683	45318933	1532	5811											
NANOS3	0	.	GRCh38	chr19	13877321	13877321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctctgagtgggaaagagGgtcctgaaaccaggctgagc	10	6	17	8	0	1	4	0	3	1	1	2	5	2	5	2	4	2	2	2	4	2	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.73G>T	p.Gly25Cys	p.G25C	ENST00000339133	1/2	173	131	42	187	187	0	strelka-varscan-mutect	NANOS3,missense_variant,p.Gly25Cys,ENST00000397555,;NANOS3,missense_variant,p.Gly25Cys,ENST00000339133,NM_001098622.2;MIR181D,downstream_gene_variant,,ENST00000384853,;MIR181C,downstream_gene_variant,,ENST00000384881,;NANOS3,intron_variant,,ENST00000591727,;NANOS3,intron_variant,,ENST00000591161,;	T	ENST00000339133	Transcript	missense_variant	75/581	73/579	25/192	G/C	Ggt/Tgt		1		1	NANOS3	HGNC	HGNC:22048	protein_coding	YES	CCDS42511.1	ENSP00000341992	P60323		UPI0000366D46	NM_001098622.2	deleterious(0.04)		1/2		hmmpanther:PTHR12887																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	13877321	13877321	G	T	1	0	0	0	0	1	0	0	0	10162	1232	43	2		2	NANOS3	19	13877321	Missense_Mutation	SNP	G	C3L-00144_TP	578638	13877321	44740295	1533	5812											
OR10H1	0	.	GRCh38	chr19	15807199	15807199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaagggtgtgaggaccGtgtaggtgatgcccatcaag	10	8	17	6	1	1	3	1	3	0	0	1	5	1	5	2	4	1	1	2	4	3	1	rs375583661		C3L-00144_TP	C3L-00144_NB	G	G																c.839C>A	p.Thr280Lys	p.T280K	ENST00000334920	1/1	165	147	18	154	154	0	varscan-mutect	OR10H1,missense_variant,p.Thr280Lys,ENST00000334920,NM_013940.2;	T	ENST00000334920	Transcript	missense_variant	928/1124	839/957	280/318	T/K	aCg/aAg	rs375583661	1		-1	OR10H1	HGNC	HGNC:8172	protein_coding	YES	CCDS12335.1	ENSP00000335596	Q9Y4A9	A0A126GVU5	UPI000004CA3D	NM_013940.2	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF122,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs375583661	.												T	3	4	12	15807199	15807199	G	T	1	0	0	0	0	1	0	0	0	10982	1145	40	1		1	OR10H1	19	15807199	Missense_Mutation	SNP	G	C3L-00144_TP	1929878	15807199	42810417	1534	5813											
CYP4F2	0	.	GRCh38	chr19	15879848	15879848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactgggggatgcagccgcaGgctctccttcatgcacatgg	7	8	14	12	1	2	0	1	0	1	0	3	2	2	1	2	4	3	4	2	4	0	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1165C>A	p.Leu389Met	p.L389M	ENST00000221700	10/13	359	271	88	287	287	0	strelka-varscan-mutect	CYP4F2,missense_variant,p.Leu389Met,ENST00000221700,NM_001082.4;CYP4F2,missense_variant,p.Leu389Met,ENST00000011989,;CYP4F2,intron_variant,,ENST00000589654,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000392846,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000592710,;CYP4F2,downstream_gene_variant,,ENST00000587671,;	T	ENST00000221700	Transcript	missense_variant	1261/2407	1165/1563	389/520	L/M	Ctg/Atg		1		-1	CYP4F2	HGNC	HGNC:2645	protein_coding	YES	CCDS12336.1	ENSP00000221700	P78329		UPI0000052BE6	NM_001082.4	deleterious(0.03)		10/13		hmmpanther:PTHR24291:SF45,hmmpanther:PTHR24291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00385																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	15879848	15879848	G	T	1	0	0	0	0	1	0	0	0	3991	991	35	2		2	CYP4F2	19	15879848	Missense_Mutation	SNP	G	C3L-00144_TP	72649	15879848	42737768	1535	5814											
MYO9B	0	.	GRCh38	chr19	17206001	17206001	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccacttcggcgtgtgcgtAgacagcctgaccagcgacaa	9	6	13	13	4	0	2	0	1	0	1	1	3	0	2	3	2	3	1	3	2	2	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.5106A>T	p.=	p.V1702V	ENST00000595618	32/40	60	55	5	59	59	0	strelka-varscan-mutect	MYO9B,synonymous_variant,p.=,ENST00000595618,NM_001130065.1;MYO9B,synonymous_variant,p.=,ENST00000594824,NM_004145.3;MYO9B,synonymous_variant,p.=,ENST00000397274,;MYO9B,synonymous_variant,p.=,ENST00000595641,;MYO9B,upstream_gene_variant,,ENST00000597073,;MYO9B,upstream_gene_variant,,ENST00000596942,;MYO9B,upstream_gene_variant,,ENST00000598419,;CTD-3032J10.3,downstream_gene_variant,,ENST00000601929,;MYO9B,3_prime_UTR_variant,,ENST00000602158,;MYO9B,non_coding_transcript_exon_variant,,ENST00000599420,;MYO9B,intron_variant,,ENST00000593533,;MYO9B,upstream_gene_variant,,ENST00000597572,;MYO9B,upstream_gene_variant,,ENST00000597881,;	T	ENST00000595618	Transcript	synonymous_variant	5258/7623	5106/6069	1702/2022	V	gtA/gtT		1		1	MYO9B	HGNC	HGNC:7609	protein_coding	YES	CCDS46010.1	ENSP00000471457	Q13459		UPI000020367C	NM_001130065.1			32/40		Gene3D:1.10.555.10,Superfamily_domains:SSF48350																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	17206001	17206001	A	T	1	0	0	0	0	0	0	0	1	10086	407	15	4		4	MYO9B	19	17206001	Silent	SNP	A	C3L-00144_TP	1326153	17206001	41411615	1536	5815											
FAM129C	0	.	GRCh38	chr19	17539357	17539357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgcaggtgctgaccgCggtgctgatgcgggagcaac	6	8	15	12	3	1	2	0	2	1	0	2	3	1	3	2	3	6	4	2	3	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.815C>A	p.Ala272Glu	p.A272E	ENST00000335393	8/16	131	118	13	110	110	0	strelka-varscan-mutect	FAM129C,missense_variant,p.Ala272Glu,ENST00000335393,NM_001321826.1,NM_173544.4;FAM129C,missense_variant,p.Ala272Glu,ENST00000595684,;FAM129C,missense_variant,p.Ala272Glu,ENST00000332386,NM_001098524.1;FAM129C,missense_variant,p.Ala241Glu,ENST00000601861,;FAM129C,missense_variant,p.Ala241Glu,ENST00000599164,NM_001321827.1;FAM129C,missense_variant,p.Ala241Glu,ENST00000599124,;FAM129C,missense_variant,p.Ala218Glu,ENST00000600871,;FAM129C,5_prime_UTR_variant,,ENST00000449408,;FAM129C,downstream_gene_variant,,ENST00000597887,;FAM129C,missense_variant,p.Ala241Glu,ENST00000600519,;FAM129C,upstream_gene_variant,,ENST00000595601,;FAM129C,downstream_gene_variant,,ENST00000599819,;	A	ENST00000335393	Transcript	missense_variant	953/2508	815/2094	272/697	A/E	gCg/gAg		1		1	FAM129C	HGNC	HGNC:24130	protein_coding	YES	CCDS12362.1	ENSP00000335040	Q86XR2		UPI0000246FFF	NM_001321826.1,NM_173544.4	tolerated(0.69)		8/16		hmmpanther:PTHR14392:SF4,hmmpanther:PTHR14392																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	17539357	17539357	C	A	1	0	0	0	0	1	0	0	0	5288	768	27	1		1	FAM129C	19	17539357	Missense_Mutation	SNP	C	C3L-00144_TP	333356	17539357	41078259	1537	5816											
MAP1S	0	.	GRCh38	chr19	17727969	17727969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacggagaacgtcagccgcaCccggaagcccctggcccgcc	9	2	12	18	5	1	1	1	0	0	1	1	3	1	2	6	3	4	1	6	3	3	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2585C>T	p.Thr862Ile	p.T862I	ENST00000324096	5/7	117	104	13	79	79	0	strelka-varscan-mutect	MAP1S,missense_variant,p.Thr862Ile,ENST00000324096,NM_018174.4;MAP1S,missense_variant,p.Thr836Ile,ENST00000544059,NM_001308363.1;MAP1S,intron_variant,,ENST00000597735,;MAP1S,intron_variant,,ENST00000597000,;MAP1S,downstream_gene_variant,,ENST00000600186,;MAP1S,downstream_gene_variant,,ENST00000594625,;CTD-3149D2.4,non_coding_transcript_exon_variant,,ENST00000595363,;MAP1S,non_coding_transcript_exon_variant,,ENST00000597681,;MAP1S,downstream_gene_variant,,ENST00000601544,;MAP1S,downstream_gene_variant,,ENST00000599494,;MAP1S,upstream_gene_variant,,ENST00000598756,;MAP1S,downstream_gene_variant,,ENST00000594340,;MAP1S,downstream_gene_variant,,ENST00000595338,;MAP1S,downstream_gene_variant,,ENST00000598916,;MAP1S,downstream_gene_variant,,ENST00000597067,;MAP1S,downstream_gene_variant,,ENST00000594212,;MAP1S,downstream_gene_variant,,ENST00000594365,;MAP1S,downstream_gene_variant,,ENST00000598769,;MAP1S,downstream_gene_variant,,ENST00000596637,;MAP1S,downstream_gene_variant,,ENST00000593593,;MAP1S,downstream_gene_variant,,ENST00000600608,;	T	ENST00000324096	Transcript	missense_variant	2736/3419	2585/3180	862/1059	T/I	aCc/aTc		1		1	MAP1S	HGNC	HGNC:15715	protein_coding	YES	CCDS32954.1	ENSP00000325313	Q66K74		UPI00002036F9	NM_018174.4	tolerated(0.08)		5/7		hmmpanther:PTHR13843																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	17727969	17727969	C	T	1	0	0	0	0	1	0	0	0	9156	507	18	3		3	MAP1S	19	17727969	Missense_Mutation	SNP	C	C3L-00144_TP	188612	17727969	40889647	1538	5817											
FCHO1	0	.	GRCh38	chr19	17784141	17784141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagaccaaagacttctGgctcaacatggcagctctga	11	8	9	13	0	3	3	1	2	2	2	3	4	3	3	2	2	2	3	2	2	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2132G>T	p.Trp711Leu	p.W711L	ENST00000594202	25/29	191	135	56	176	175	1	strelka-varscan-mutect	FCHO1,missense_variant,p.Trp711Leu,ENST00000594202,NM_001161357.1;FCHO1,missense_variant,p.Trp711Leu,ENST00000596536,NM_015122.2;FCHO1,missense_variant,p.Trp711Leu,ENST00000252771,;FCHO1,missense_variant,p.Trp711Leu,ENST00000600676,NM_001161358.1;FCHO1,missense_variant,p.Trp711Leu,ENST00000596951,;FCHO1,missense_variant,p.Trp718Leu,ENST00000597512,;FCHO1,missense_variant,p.Trp661Leu,ENST00000595033,NM_001161359.1;FCHO1,non_coding_transcript_exon_variant,,ENST00000595594,;FCHO1,downstream_gene_variant,,ENST00000600058,;FCHO1,downstream_gene_variant,,ENST00000602111,;FCHO1,downstream_gene_variant,,ENST00000599766,;	T	ENST00000594202	Transcript	missense_variant	2411/3214	2132/2676	711/891	W/L	tGg/tTg		1		1	FCHO1	HGNC	HGNC:29002	protein_coding	YES	CCDS59365.1	ENSP00000473001		A0A0C3SFZ9	UPI000059D6B0	NM_001161357.1	deleterious(0.02)		25/29		Pfam_domain:PF10291,PROSITE_profiles:PS51072,hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF6																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	17784141	17784141	G	T	1	0	0	0	0	1	0	0	0	5649	1357	47	2		2	FCHO1	19	17784141	Missense_Mutation	SNP	G	C3L-00144_TP	56172	17784141	40833475	1539	5818											
SLC5A5	0	.	GRCh38	chr19	17890889	17890889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctccccgcctctcaggccCcaccaagcgcagcaccctgg	6	6	8	21	2	2	0	1	0	2	0	4	0	2	0	7	2	2	2	7	2	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1655C>A	p.Pro552His	p.P552H	ENST00000222248	14/15	471	415	56	363	361	2	strelka-varscan-mutect	SLC5A5,missense_variant,p.Pro552His,ENST00000222248,NM_000453.2;SLC5A5,downstream_gene_variant,,ENST00000597109,;	A	ENST00000222248	Transcript	missense_variant	2002/3576	1655/1932	552/643	P/H	cCc/cAc		1		1	SLC5A5	HGNC	HGNC:11040	protein_coding	YES	CCDS12368.1	ENSP00000222248	Q92911		UPI00001359F6	NM_000453.2	tolerated(0.21)		14/15		hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	17890889	17890889	C	A	1	0	0	0	0	1	0	0	0	14951	637	22	2		2	SLC5A5	19	17890889	Missense_Mutation	SNP	C	C3L-00144_TP	106748	17890889	40726727	1540	5819											
CCDC124	0	.	GRCh38	chr19	17943326	17943326	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgaaccgccgcgtgctggagGagggcagcgtggaggcgcgc	6	4	20	11	6	0	1	0	1	0	0	0	4	0	4	2	5	3	2	2	5	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.415G>C	p.Glu139Gln	p.E139Q	ENST00000597436	4/5	417	361	56	355	355	0	strelka-varscan-mutect	CCDC124,missense_variant,p.Glu139Gln,ENST00000597436,NM_138442.3;CCDC124,missense_variant,p.Glu139Gln,ENST00000445755,NM_001136203.1;CCDC124,downstream_gene_variant,,ENST00000596123,;	C	ENST00000597436	Transcript	missense_variant	522/1055	415/672	139/223	E/Q	Gag/Cag		1		1	CCDC124	HGNC	HGNC:25171	protein_coding	YES	CCDS12369.1	ENSP00000471455	Q96CT7	A0A024R7M8	UPI000006D46F	NM_138442.3	tolerated(0.19)		4/5		hmmpanther:PTHR21680:SF0,hmmpanther:PTHR21680,Pfam_domain:PF06244																	MODERATE	1	SNV	1			1										PASS		rs1284975868	.												C	3	2	12	17943326	17943326	G	C	1	0	0	0	0	1	0	0	0	2452	1175	41	4		4	CCDC124	19	17943326	Missense_Mutation	SNP	G	C3L-00144_TP	52437	17943326	40674290	1541	5820											
KIAA1683	0	.	GRCh38	chr19	18267425	18267425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccaggagactggggtgagCgggggctggaggatgcaccg	7	5	21	8	2	0	2	0	1	0	1	1	5	1	4	2	7	2	2	2	7	0	0	rs111708098		C3L-00144_TP	C3L-00144_NB	C	C																c.115G>A	p.Ala39Thr	p.A39T	ENST00000392413	3/4	35	30	5	21	21	0	strelka-mutect	KIAA1683,missense_variant,p.Ala39Thr,ENST00000392413,NM_001145304.1;KIAA1683,missense_variant,p.Ala39Thr,ENST00000600328,NM_025249.3;KIAA1683,missense_variant,p.Ala39Thr,ENST00000612316,;KIAA1683,missense_variant,p.Ala39Thr,ENST00000608950,;KIAA1683,5_prime_UTR_variant,,ENST00000600359,NM_001145305.1;KIAA1683,5_prime_UTR_variant,,ENST00000593659,;KIAA1683,5_prime_UTR_variant,,ENST00000595654,;KIAA1683,5_prime_UTR_variant,,ENST00000599528,;KIAA1683,upstream_gene_variant,,ENST00000599638,;	T	ENST00000392413	Transcript	missense_variant	331/4402	115/4104	39/1367	A/T	Gct/Act	rs111708098	1		-1	KIAA1683	HGNC	HGNC:29350	protein_coding	YES	CCDS46017.1	ENSP00000376213	Q9H0B3		UPI000194EC26	NM_001145304.1	tolerated(0.34)		3/4		hmmpanther:PTHR22590,hmmpanther:PTHR22590:SF2																	MODERATE	1	SNV	1			1										PASS		rs111708098	.												T	3	4	12	18267425	18267425	C	T	1	0	0	0	0	1	0	0	0	8126	768	27	1		1	KIAA1683	19	18267425	Missense_Mutation	SNP	C	C3L-00144_TP	324099	18267425	40350191	1542	5821											
NCAN	0	.	GRCh38	chr19	19228578	19228578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagagagcttctgggaggaGgtggcaagtggagaggagcc	10	6	20	5	0	1	2	0	0	1	2	1	7	1	5	1	6	2	3	1	6	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2958G>T	p.Glu986Asp	p.E986D	ENST00000252575	8/15	207	147	60	160	159	1	strelka-varscan-mutect	NCAN,missense_variant,p.Glu986Asp,ENST00000252575,NM_004386.2;RNU6-1028P,upstream_gene_variant,,ENST00000517164,;NCAN,non_coding_transcript_exon_variant,,ENST00000590187,;	T	ENST00000252575	Transcript	missense_variant	3057/6387	2958/3966	986/1321	E/D	gaG/gaT		1		1	NCAN	HGNC	HGNC:2465	protein_coding	YES	CCDS12397.1	ENSP00000252575	O14594	A0A024R7M3	UPI000013CD70	NM_004386.2	deleterious(0.01)		8/15		hmmpanther:PTHR22804:SF24,hmmpanther:PTHR22804																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	19228578	19228578	G	T	1	0	0	0	0	1	0	0	0	10220	991	35	2		2	NCAN	19	19228578	Missense_Mutation	SNP	G	C3L-00144_TP	961153	19228578	39389038	1543	5822											
CILP2	0	.	GRCh38	chr19	19543959	19543959	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaagtgtctgccccctCgggggctggtccggggccgt	3	7	17	14	3	1	1	0	0	1	1	3	1	2	1	5	5	1	1	5	5	1	0			C3L-00144_TP	C3L-00144_NB	C	C																c.1414C>A	p.=	p.R472R	ENST00000291495	8/8	316	280	36	227	227	0	strelka-varscan-mutect	CILP2,synonymous_variant,p.=,ENST00000586018,;CILP2,synonymous_variant,p.=,ENST00000291495,NM_153221.2;CILP2,downstream_gene_variant,,ENST00000588333,;	A	ENST00000291495	Transcript	synonymous_variant	1499/4199	1414/3471	472/1156	R	Cgg/Agg	COSM1242130	1		1	CILP2	HGNC	HGNC:24213	protein_coding	YES	CCDS12405.1	ENSP00000291495	Q8IUL8		UPI000013E04D	NM_153221.2			8/8		hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF0											1						LOW	1	SNV	1		1	1										PASS		rs1227767281	.												A	2	1	12	19543959	19543959	C	A	1	0	0	0	0	0	0	0	1	3192	875	31	1		1	CILP2	19	19543959	Silent	SNP	C	C3L-00144_TP	315381	19543959	39073657	1544	5823											
ZNF14	0	.	GRCh38	chr19	19712595	19712595	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtaacatataaaggctttcCcacactgtttacattcatag	13	13	6	9	0	1	0	1	0	0	0	2	0	2	0	1	2	2	3	1	2	6	8	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.686G>T	p.Gly229Val	p.G229V	ENST00000344099	4/4	188	136	52	154	154	0	strelka-varscan-mutect	ZNF14,missense_variant,p.Gly229Val,ENST00000344099,NM_021030.2;CTC-412M14.5,downstream_gene_variant,,ENST00000604034,;	A	ENST00000344099	Transcript	missense_variant	825/2949	686/1929	229/642	G/V	gGg/gTg		1		-1	ZNF14	HGNC	HGNC:12924	protein_coding	YES	CCDS12409.1	ENSP00000340514	P17017		UPI00001E058E	NM_021030.2	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF31,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	19712595	19712595	C	A	1	0	0	0	0	1	0	0	0	18309	623	22	2		2	ZNF14	19	19712595	Missense_Mutation	SNP	C	C3L-00144_TP	168636	19712595	38905021	1545	5824											
ZNF492	0	.	GRCh38	chr19	22663809	22663809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctttcagttgtatgttCttattttgcccgagaccttt	6	21	6	8	1	3	1	1	0	2	1	3	2	3	1	2	0	1	3	2	0	2	9	rs370256405		C3L-00144_TP	C3L-00144_NB	C	C																c.140C>A	p.Ser47Tyr	p.S47Y	ENST00000456783	4/4	34	21	13	41	41	0	strelka-varscan-mutect	ZNF492,missense_variant,p.Ser47Tyr,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	A	ENST00000456783	Transcript	missense_variant	384/4245	140/1596	47/531	S/Y	tCt/tAt	rs370256405	1		1	ZNF492	HGNC	HGNC:23707	protein_coding	YES	CCDS46032.1	ENSP00000413660	Q9P255		UPI00001C200B	NM_020855.2	deleterious(0.04)		4/4		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108																	MODERATE	1	SNV	1			1										PASS		rs370256405	.												A	3	1	12	22663809	22663809	C	A	1	0	0	0	0	1	0	0	0	18516	913	32	2		2	ZNF492	19	22663809	Missense_Mutation	SNP	C	C3L-00144_TP	2951214	22663809	35953807	1546	5825											
ZNF681	0	.	GRCh38	chr19	23744606	23744606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggttgaaagctttgccaCattccttatattcattgagt	10	16	7	8	0	1	2	1	2	0	0	2	2	2	2	2	1	2	2	2	1	3	7	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.944G>T	p.Cys315Phe	p.C315F	ENST00000402377	4/4	218	198	20	216	216	0	strelka-varscan-mutect	ZNF681,missense_variant,p.Cys315Phe,ENST00000402377,NM_138286.2;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,;	A	ENST00000402377	Transcript	missense_variant	1086/6497	944/1938	315/645	C/F	tGt/tTt		1		-1	ZNF681	HGNC	HGNC:26457	protein_coding	YES	CCDS12414.2	ENSP00000384000	Q96N22		UPI000022ABC8	NM_138286.2	deleterious(0)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF356,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	23744606	23744606	C	A	1	0	0	0	0	1	0	0	0	18661	478	17	2		2	ZNF681	19	23744606	Missense_Mutation	SNP	C	C3L-00144_TP	1080797	23744606	34873010	1547	5826											
ZNF681	0	.	GRCh38	chr19	23745248	23745248	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcacattttccatatcttCttggtgtcactttttggaaa	8	19	6	8	0	4	0	2	0	2	0	5	1	5	1	1	2	0	1	1	2	2	8	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.302G>T	p.Arg101Ile	p.R101I	ENST00000402377	4/4	112	100	12	96	96	0	strelka-varscan-mutect	ZNF681,missense_variant,p.Arg101Ile,ENST00000402377,NM_138286.2;ZNF681,missense_variant,p.Arg32Ile,ENST00000528059,;ZNF681,missense_variant,p.Arg32Ile,ENST00000531570,;	A	ENST00000402377	Transcript	missense_variant	444/6497	302/1938	101/645	R/I	aGa/aTa		1		-1	ZNF681	HGNC	HGNC:26457	protein_coding	YES	CCDS12414.2	ENSP00000384000	Q96N22		UPI000022ABC8	NM_138286.2	deleterious(0)		4/4		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF356																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	23745248	23745248	C	A	1	0	0	0	0	1	0	0	0	18661	913	32	2		2	ZNF681	19	23745248	Missense_Mutation	SNP	C	C3L-00144_TP	642	23745248	34872368	1548	5827											
URI1	0	.	GRCh38	chr19	30007484	30007484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatagcaaaacaccgaattGctcataaaccgcattccaaa	19	7	4	11	2	1	0	1	0	0	0	2	1	2	0	3	0	4	3	3	0	8	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.532G>T	p.Ala178Ser	p.A178S	ENST00000392271	7/11	292	218	74	230	229	1	strelka-varscan-mutect	URI1,missense_variant,p.Ala178Ser,ENST00000392271,NM_003796.3;URI1,missense_variant,p.Ala160Ser,ENST00000360605,NM_001252641.1;URI1,missense_variant,p.Ala102Ser,ENST00000576442,;URI1,upstream_gene_variant,,ENST00000575242,;URI1,downstream_gene_variant,,ENST00000574233,;URI1,upstream_gene_variant,,ENST00000573052,;URI1,non_coding_transcript_exon_variant,,ENST00000574176,;URI1,non_coding_transcript_exon_variant,,ENST00000570704,;URI1,3_prime_UTR_variant,,ENST00000574110,;URI1,downstream_gene_variant,,ENST00000574666,;	T	ENST00000392271	Transcript	missense_variant	829/3444	532/1608	178/535	A/S	Gct/Tct		1		1	URI1	HGNC	HGNC:13236	protein_coding	YES	CCDS12420.1	ENSP00000376097	O94763		UPI00001604C8	NM_003796.3	tolerated(0.15)		7/11		hmmpanther:PTHR15111,hmmpanther:PTHR15111:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	30007484	30007484	G	T	1	0	0	0	0	1	0	0	0	17558	1319	46	2		2	URI1	19	30007484	Missense_Mutation	SNP	G	C3L-00144_TP	6262236	30007484	28610132	1549	5828											
ZNF536	0	.	GRCh38	chr19	30444052	30444052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaagtgcccgtactgcGaccacagggcggcgcagaag	9	5	13	14	4	1	1	1	0	0	1	1	2	1	1	3	2	3	2	3	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.490G>T	p.Asp164Tyr	p.D164Y	ENST00000355537	2/5	260	236	24	280	280	0	strelka-varscan-mutect	ZNF536,missense_variant,p.Asp164Tyr,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.Asp164Tyr,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;	T	ENST00000355537	Transcript	missense_variant	637/4945	490/3903	164/1300	D/Y	Gac/Tac		1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	tolerated(0.08)		2/5		Gene3D:3.30.160.60,Pfam_domain:PF13909,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	30444052	30444052	G	T	1	0	0	0	0	1	0	0	0	18547	1058	37	1		1	ZNF536	19	30444052	Missense_Mutation	SNP	G	C3L-00144_TP	436568	30444052	28173564	1550	5829											
ZNF536	0	.	GRCh38	chr19	30548913	30548913	+	Silent	SNP	C	C	A																															aagagcggtgcatggaccggCcacgtggaccctgcattttg																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3294C>A	p.=	p.G1098G	ENST00000355537	4/5	221	160	61	199	199	0	strelka-varscan-mutect	ZNF536,synonymous_variant,p.=,ENST00000355537,NM_014717.1;ZNF536,downstream_gene_variant,,ENST00000585628,;ZNF536,upstream_gene_variant,,ENST00000592773,;	A	ENST00000355537	Transcript	synonymous_variant	3441/4945	3294/3903	1098/1300	G	ggC/ggA		1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1			4/5		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	30548913	30548913	C	A	1	0	0	0	0	0	0	0	1	18547	726	26	2		2	ZNF536	19	30548913	Silent	SNP	C	C3L-00144_TP	104861	30548913	28068703	1551	5830	132	2									
ZNF536	0	.	GRCh38	chr19	30548914	30548914	+	Missense_Mutation	SNP	C	C	A																															agagcggtgcatggaccggcCacgtggaccctgcattttgt																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3295C>A	p.His1099Asn	p.H1099N	ENST00000355537	4/5	222	159	63	202	201	1	strelka-varscan-mutect	ZNF536,missense_variant,p.His1099Asn,ENST00000355537,NM_014717.1;ZNF536,downstream_gene_variant,,ENST00000585628,;ZNF536,upstream_gene_variant,,ENST00000592773,;	A	ENST00000355537	Transcript	missense_variant	3442/4945	3295/3903	1099/1300	H/N	Cac/Aac		1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	tolerated_low_confidence(0.09)		4/5		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	30548914	30548914	C	A	1	0	0	0	0	1	0	0	0	18547	594	21	2		2	ZNF536	19	30548914	Missense_Mutation	SNP	C	C3L-00144_TP	1	30548914	28068702	1552	5831	132	2									
SLC7A9	0	.	GRCh38	chr19	32858509	32858509	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaaaagtggaacgatcCaagaagcaggatagagaaca	20	3	10	8	1	0	2	0	0	0	2	1	6	1	4	2	2	3	1	2	2	7	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.908G>T	p.Trp303Leu	p.W303L	ENST00000023064	9/13	653	595	58	487	486	1	strelka-varscan-mutect	SLC7A9,missense_variant,p.Trp303Leu,ENST00000023064,NM_001243036.1,NM_001126335.1,NM_014270.4;SLC7A9,missense_variant,p.Trp303Leu,ENST00000590341,;SLC7A9,missense_variant,p.Trp303Leu,ENST00000587772,;RN7SKP22,downstream_gene_variant,,ENST00000365097,;SLC7A9,3_prime_UTR_variant,,ENST00000590465,;SLC7A9,3_prime_UTR_variant,,ENST00000592232,;SLC7A9,non_coding_transcript_exon_variant,,ENST00000589659,;	A	ENST00000023064	Transcript	missense_variant	1100/1761	908/1464	303/487	W/L	tGg/tTg		1		-1	SLC7A9	HGNC	HGNC:11067	protein_coding	YES	CCDS12425.1	ENSP00000023064	P82251		UPI0000037773	NM_001243036.1,NM_001126335.1,NM_014270.4	deleterious(0.01)		9/13		Transmembrane_helices:TMhelix,hmmpanther:PTHR11785:SF354,hmmpanther:PTHR11785,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	32858509	32858509	C	A	1	0	0	0	0	1	0	0	0	14988	595	21	2		2	SLC7A9	19	32858509	Missense_Mutation	SNP	C	C3L-00144_TP	2309595	32858509	25759107	1553	5832											
CHST8	0	.	GRCh38	chr19	33771968	33771968	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccccaggacctcccaccAggcggctcccaggatggtga	7	6	12	16	1	0	1	0	1	0	0	2	3	2	3	6	5	1	1	6	5	0	1	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.180A>T	p.=	p.P60P	ENST00000262622	4/4	67	60	7	47	47	0	strelka-varscan-mutect	CHST8,synonymous_variant,p.=,ENST00000262622,NM_022467.3;CHST8,synonymous_variant,p.=,ENST00000434302,NM_001127895.1;CHST8,synonymous_variant,p.=,ENST00000438847,NM_001127896.1;CHST8,synonymous_variant,p.=,ENST00000591231,;	T	ENST00000262622	Transcript	synonymous_variant	938/2479	180/1275	60/424	P	ccA/ccT		1		1	CHST8	HGNC	HGNC:15993	protein_coding	YES	CCDS12433.1	ENSP00000262622	Q9H2A9		UPI000006F966	NM_022467.3			4/4		hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF7																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	33771968	33771968	A	T	1	0	0	0	0	0	0	0	1	3170	175	7	4		4	CHST8	19	33771968	Silent	SNP	A	C3L-00144_TP	913459	33771968	24845648	1554	5833											
GAPDHS	0	.	GRCh38	chr19	35536822	35536822	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccgcatagtgaccagagCaccgcccccacctgagccta	9	4	8	20	2	0	3	0	2	0	1	0	3	0	3	8	0	2	2	8	0	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.77C>G	p.Ala26Gly	p.A26G	ENST00000222286	2/11	88	61	27	58	58	0	strelka-varscan-mutect	GAPDHS,missense_variant,p.Ala26Gly,ENST00000222286,NM_014364.4;GAPDHS,5_prime_UTR_variant,,ENST00000585510,;TMEM147-AS1,downstream_gene_variant,,ENST00000588286,;TMEM147-AS1,downstream_gene_variant,,ENST00000590717,;TMEM147-AS1,downstream_gene_variant,,ENST00000589137,;TMEM147-AS1,downstream_gene_variant,,ENST00000590125,;GAPDHS,intron_variant,,ENST00000586334,;	G	ENST00000222286	Transcript	missense_variant	193/1489	77/1227	26/408	A/G	gCa/gGa		1		1	GAPDHS	HGNC	HGNC:24864	protein_coding	YES	CCDS12465.1	ENSP00000222286	O14556	A0A0K0K1K1	UPI000012AE83	NM_014364.4	tolerated_low_confidence(0.35)		2/11		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	35536822	35536822	C	G	1	0	0	0	0	1	0	0	0	6105	710	25	4		4	GAPDHS	19	35536822	Missense_Mutation	SNP	C	C3L-00144_TP	1764854	35536822	23080794	1555	5834											
ETV2	0	.	GRCh38	chr19	35642468	35642468	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcgcatccatggaccTgtggaactgggatgaggcat	9	10	12	10	1	1	1	1	1	0	0	3	4	2	4	2	4	1	2	2	4	1	1	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.8T>A	p.Leu3Gln	p.L3Q	ENST00000402764	2/7	49	40	9	32	32	0	strelka-varscan-mutect	ETV2,missense_variant,p.Leu3Gln,ENST00000379026,;ETV2,missense_variant,p.Leu3Gln,ENST00000402764,NM_014209.3;ETV2,missense_variant,p.Leu3Gln,ENST00000403402,;ETV2,missense_variant,p.Leu3Gln,ENST00000619399,;ETV2,missense_variant,p.Leu3Gln,ENST00000621247,;ETV2,missense_variant,p.Leu3Gln,ENST00000379023,NM_001304549.1;ETV2,intron_variant,,ENST00000479824,NM_001300974.1;RBM42,downstream_gene_variant,,ENST00000262633,NM_024321.3;RBM42,downstream_gene_variant,,ENST00000588161,NM_001319113.1;RBM42,downstream_gene_variant,,ENST00000589871,;RBM42,downstream_gene_variant,,ENST00000592202,;RBM42,downstream_gene_variant,,ENST00000589559,;RBM42,downstream_gene_variant,,ENST00000586618,;ETV2,upstream_gene_variant,,ENST00000591135,;	A	ENST00000402764	Transcript	missense_variant	447/1487	8/1029	3/342	L/Q	cTg/cAg		1		1	ETV2	HGNC	HGNC:3491	protein_coding	YES	CCDS32995.2	ENSP00000384524	O00321		UPI000013C7F7	NM_014209.3	deleterious(0.03)		2/7																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	35642468	35642468	T	A	1	0	0	0	0	1	0	0	0	5142	1580	55	4		4	ETV2	19	35642468	Missense_Mutation	SNP	T	C3L-00144_TP	105646	35642468	22975148	1556	5835											
ZFP82	0	.	GRCh38	chr19	36393809	36393809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggcgcactctgaacgcCttcccacattccttacattc	7	13	6	15	2	1	1	0	1	1	0	4	1	3	1	3	1	2	2	3	1	2	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.531G>T	p.Lys177Asn	p.K177N	ENST00000392161	5/5	277	198	79	215	215	0	strelka-varscan-mutect	ZFP82,missense_variant,p.Lys177Asn,ENST00000392161,NM_133466.2;ZFP82,intron_variant,,ENST00000445543,;ZFP82,non_coding_transcript_exon_variant,,ENST00000590993,;	A	ENST00000392161	Transcript	missense_variant	774/2623	531/1599	177/532	K/N	aaG/aaT		1		-1	ZFP82	HGNC	HGNC:28682	protein_coding	YES	CCDS12493.1	ENSP00000431265	Q8N141	D3Y299	UPI0000071159	NM_133466.2	deleterious(0)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF252,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	36393809	36393809	C	A	1	0	0	0	0	1	0	0	0	18230	680	24	2		2	ZFP82	19	36393809	Missense_Mutation	SNP	C	C3L-00144_TP	751341	36393809	22223807	1557	5836											
ZNF568	0	.	GRCh38	chr19	36997019	36997019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctttttcgacatcaaaGaatccatacgggtgagaaac	15	9	7	10	2	1	2	1	1	0	2	3	4	2	2	2	1	2	0	2	1	4	3			C3L-00144_TP	C3L-00144_NB	G	G																c.1328G>T	p.Arg443Ile	p.R443I	ENST00000617745	8/8	110	99	11	103	102	1	strelka-mutect	ZNF568,missense_variant,p.Arg443Ile,ENST00000617745,NM_001204838.1;ZNF568,missense_variant,p.Arg379Ile,ENST00000455427,NM_001204839.1;ZNF568,missense_variant,p.Arg443Ile,ENST00000444991,;ZNF568,missense_variant,p.Arg311Ile,ENST00000433993,;ZNF568,downstream_gene_variant,,ENST00000455817,;ZNF568,downstream_gene_variant,,ENST00000588596,;ZNF568,non_coding_transcript_exon_variant,,ENST00000591887,;	T	ENST00000617745	Transcript	missense_variant	1528/2441	1328/1908	443/635	R/I	aGa/aTa	COSM5464532	1		1	ZNF568	HGNC	HGNC:25392	protein_coding		CCDS74351.1	ENSP00000482444		A0A087WZ84	UPI0001FD28F8	NM_001204838.1	deleterious(0.01)		8/8		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF107,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE		SNV	5		1	1										PASS		.	.												T	3	4	12	36997019	36997019	G	T	1	0	0	0	0	1	0	0	0	18573	942	33	2		2	ZNF568	19	36997019	Missense_Mutation	SNP	G	C3L-00144_TP	603210	36997019	21620597	1558	5837											
ZNF607	0	.	GRCh38	chr19	37699145	37699145	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttctcccctgaataaattCtctgatgcatggtaagttga	10	15	8	8	0	2	3	0	3	2	0	4	3	2	3	2	1	1	4	2	1	4	5			C3L-00144_TP	C3L-00144_NB	C	C																c.986G>C	p.Arg329Thr	p.R329T	ENST00000355202	5/5	255	234	21	215	215	0	strelka-varscan-mutect	ZNF607,missense_variant,p.Arg329Thr,ENST00000355202,NM_032689.4;ZNF607,missense_variant,p.Arg328Thr,ENST00000395835,NM_001172677.1;ZNF607,downstream_gene_variant,,ENST00000591664,;ZNF607,downstream_gene_variant,,ENST00000590670,;CTD-2528L19.4,intron_variant,,ENST00000586606,;CTD-2528L19.4,intron_variant,,ENST00000585547,;CTD-2528L19.4,intron_variant,,ENST00000591114,;ZNF607,downstream_gene_variant,,ENST00000586559,;	G	ENST00000355202	Transcript	missense_variant	1582/4364	986/2091	329/696	R/T	aGa/aCa	COSM995814	1		-1	ZNF607	HGNC	HGNC:28192	protein_coding	YES	CCDS33006.1	ENSP00000347338	Q96SK3		UPI000040BC07	NM_032689.4	deleterious(0.01)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF319,hmmpanther:PTHR24377,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	2		1	1										PASS		rs1041881636	.												G	3	3	12	37699145	37699145	C	G	1	0	0	0	0	1	0	0	0	18608	913	32	4		4	ZNF607	19	37699145	Missense_Mutation	SNP	C	C3L-00144_TP	702126	37699145	20918471	1559	5838											
WDR87	0	.	GRCh38	chr19	37886656	37886656	+	Frame_Shift_Del	DEL	G	G	-																															aaacacttcttccttctcctGaacctcctccttcttctttt																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.7015delC	p.Gln2339ArgfsTer14	p.Q2339Rfs*14	ENST00000447313	6/6	83	59	24	75	75	0	sindel-varindel-pindel	WDR87,frameshift_variant,p.Gln2339ArgfsTer14,ENST00000447313,NM_001291088.1;WDR87,frameshift_variant,p.Gln2300ArgfsTer14,ENST00000303868,NM_031951.4;	-	ENST00000447313	Transcript	frameshift_variant	7176/9009	7015/8739	2339/2912	Q/X	Cag/ag		1		-1	WDR87	HGNC	HGNC:29934	protein_coding	YES	CCDS74356.1	ENSP00000405012		E7ESW6	UPI0003EAEFEF	NM_001291088.1			6/6		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	12	37886656	37886656	G	-	1	0	1	0	1	0	0	0	0	17890	1299	45	0		0	WDR87	19	37886656	Frame_Shift_Del	DEL	G	C3L-00144_TP	187511	37886656	20730960	1560	5839											
WDR87	0	.	GRCh38	chr19	37890140	37890140	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggtgcttgaagaccattgGgaatagacggatgcttcctc	9	11	12	9	1	0	3	0	1	0	2	2	5	1	5	2	3	2	2	2	3	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3531C>A	p.=	p.S1177S	ENST00000447313	6/6	297	195	102	196	195	1	strelka-varscan-mutect	WDR87,synonymous_variant,p.=,ENST00000447313,NM_001291088.1;WDR87,synonymous_variant,p.=,ENST00000303868,NM_031951.4;	T	ENST00000447313	Transcript	synonymous_variant	3692/9009	3531/8739	1177/2912	S	tcC/tcA		1		-1	WDR87	HGNC	HGNC:29934	protein_coding	YES	CCDS74356.1	ENSP00000405012		E7ESW6	UPI0003EAEFEF	NM_001291088.1			6/6		Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	12	37890140	37890140	G	T	1	0	0	0	0	0	0	0	1	17890	1219	43	2		2	WDR87	19	37890140	Silent	SNP	G	C3L-00144_TP	3484	37890140	20727476	1561	5840											
WDR87	0	.	GRCh38	chr19	37891689	37891689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacatctaaagaaaaagccGgcttttcatctctatgtgac	14	11	7	9	1	3	3	1	1	2	2	4	3	3	3	1	1	1	1	1	1	5	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3257C>G	p.Pro1086Arg	p.P1086R	ENST00000447313	5/6	520	352	168	406	406	0	strelka-varscan-mutect	WDR87,missense_variant,p.Pro1086Arg,ENST00000447313,NM_001291088.1;WDR87,missense_variant,p.Pro1047Arg,ENST00000303868,NM_031951.4;WDR87,downstream_gene_variant,,ENST00000473328,;	C	ENST00000447313	Transcript	missense_variant	3418/9009	3257/8739	1086/2912	P/R	cCg/cGg		1		-1	WDR87	HGNC	HGNC:29934	protein_coding	YES	CCDS74356.1	ENSP00000405012		E7ESW6	UPI0003EAEFEF	NM_001291088.1	tolerated(0.07)		5/6																			MODERATE	1	SNV	2			1										PASS		rs1489429611	.												C	3	2	12	37891689	37891689	G	C	1	0	0	0	0	1	0	0	0	17890	1116	39	4		4	WDR87	19	37891689	Missense_Mutation	SNP	G	C3L-00144_TP	1549	37891689	20725927	1562	5841											
RASGRP4	0	.	GRCh38	chr19	38412968	38412968	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaagcccatggcaggcgaAgggaaaattgcccgagagtc	12	5	15	9	2	0	2	0	1	0	1	1	5	0	3	2	3	2	1	2	3	4	1	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1498T>A	p.Phe500Ile	p.F500I	ENST00000615439	12/17	358	252	106	269	269	0	strelka-varscan-mutect	RASGRP4,missense_variant,p.Phe500Ile,ENST00000618320,;RASGRP4,missense_variant,p.Phe500Ile,ENST00000615439,NM_170604.2;RASGRP4,missense_variant,p.Phe466Ile,ENST00000454404,NM_001146205.1;RASGRP4,missense_variant,p.Phe486Ile,ENST00000586305,NM_001146202.1;RASGRP4,missense_variant,p.Phe431Ile,ENST00000587753,NM_001146204.1;RASGRP4,missense_variant,p.Phe408Ile,ENST00000614135,;RASGRP4,missense_variant,p.Phe408Ile,ENST00000433821,NM_001146203.1;RASGRP4,missense_variant,p.Phe403Ile,ENST00000617966,;RASGRP4,missense_variant,p.Phe403Ile,ENST00000293062,NM_001146207.1;RASGRP4,missense_variant,p.Phe311Ile,ENST00000622174,;RASGRP4,missense_variant,p.Phe311Ile,ENST00000426920,NM_001146206.1;RASGRP4,missense_variant,p.Phe500Ile,ENST00000587738,;FAM98C,downstream_gene_variant,,ENST00000252530,NM_174905.3;FAM98C,downstream_gene_variant,,ENST00000343358,;FAM98C,downstream_gene_variant,,ENST00000588262,;RASGRP4,missense_variant,p.Phe500Ile,ENST00000589358,;RASGRP4,missense_variant,p.Phe486Ile,ENST00000589474,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000615340,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000592322,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588404,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000589100,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588708,;FAM98C,downstream_gene_variant,,ENST00000586372,;FAM98C,downstream_gene_variant,,ENST00000588348,;RASGRP4,upstream_gene_variant,,ENST00000587287,;FAM98C,downstream_gene_variant,,ENST00000589027,;	T	ENST00000615439	Transcript	missense_variant	1712/3217	1498/2022	500/673	F/I	Ttc/Atc		1		-1	RASGRP4	HGNC	HGNC:18958	protein_coding	YES	CCDS46068.1	ENSP00000479844	Q8TDF6		UPI0000050F40	NM_170604.2	deleterious(0)		12/17		PROSITE_profiles:PS50222,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF157																	MODERATE	1	SNV	1			1										PASS		rs1292354546	.												T	3	4	12	38412968	38412968	A	T	1	0	0	0	0	1	0	0	0	13238	72	3	4		4	RASGRP4	19	38412968	Missense_Mutation	SNP	A	C3L-00144_TP	521279	38412968	20204648	1563	5842											
RASGRP4	0	.	GRCh38	chr19	38415066	38415066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcagccagcccaggtgcGgcggtagcgggcgtagttgt	5	6	18	12	6	0	0	0	0	0	0	0	0	0	0	2	4	4	4	2	4	2	3	rs751201302		C3L-00144_TP	C3L-00144_NB	G	G																c.1012C>A	p.Arg338Ser	p.R338S	ENST00000615439	9/17	206	142	64	178	178	0	strelka-varscan-mutect	RASGRP4,missense_variant,p.Arg338Ser,ENST00000618320,;RASGRP4,missense_variant,p.Arg338Ser,ENST00000615439,NM_170604.2;RASGRP4,missense_variant,p.Arg304Ser,ENST00000454404,NM_001146205.1;RASGRP4,missense_variant,p.Arg324Ser,ENST00000586305,NM_001146202.1;RASGRP4,missense_variant,p.Arg241Ser,ENST00000617966,;RASGRP4,missense_variant,p.Arg241Ser,ENST00000293062,NM_001146207.1;RASGRP4,missense_variant,p.Arg338Ser,ENST00000587738,;RASGRP4,intron_variant,,ENST00000587753,NM_001146204.1;RASGRP4,intron_variant,,ENST00000614135,;RASGRP4,intron_variant,,ENST00000433821,NM_001146203.1;RASGRP4,intron_variant,,ENST00000622174,;RASGRP4,intron_variant,,ENST00000426920,NM_001146206.1;RASGRP4,missense_variant,p.Arg338Ser,ENST00000589358,;RASGRP4,missense_variant,p.Arg324Ser,ENST00000589474,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000615340,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000592322,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588404,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000589100,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588708,;RASGRP4,upstream_gene_variant,,ENST00000587287,;	T	ENST00000615439	Transcript	missense_variant	1226/3217	1012/2022	338/673	R/S	Cgc/Agc	rs751201302	1		-1	RASGRP4	HGNC	HGNC:18958	protein_coding	YES	CCDS46068.1	ENSP00000479844	Q8TDF6		UPI0000050F40	NM_170604.2	deleterious(0)		9/17		PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF157,Gene3D:2ii0A02,Pfam_domain:PF00617,SMART_domains:SM00147,Superfamily_domains:0041591																	MODERATE	1	SNV	1			1										PASS		rs751201302	.												T	3	4	12	38415066	38415066	G	T	1	0	0	0	0	1	0	0	0	13238	1116	39	1		1	RASGRP4	19	38415066	Missense_Mutation	SNP	G	C3L-00144_TP	2098	38415066	20202550	1564	5843											
MAP4K1	0	.	GRCh38	chr19	38609642	38609642	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagagctggagcggtgggtGgatctgatccgccgagggat	8	7	19	7	3	1	2	0	1	1	1	2	7	2	5	2	5	2	1	2	5	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.960C>A	p.=	p.S320S	ENST00000591517	13/32	164	149	15	138	137	1	strelka-varscan-mutect	MAP4K1,synonymous_variant,p.=,ENST00000591517,NM_007181.5;MAP4K1,synonymous_variant,p.=,ENST00000589130,;MAP4K1,synonymous_variant,p.=,ENST00000396857,NM_001042600.2;MAP4K1,synonymous_variant,p.=,ENST00000586296,;MAP4K1,upstream_gene_variant,,ENST00000591921,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000589002,;MAP4K1,3_prime_UTR_variant,,ENST00000585583,;MAP4K1,downstream_gene_variant,,ENST00000591707,;MAP4K1,downstream_gene_variant,,ENST00000592888,;MAP4K1,downstream_gene_variant,,ENST00000592225,;MAP4K1,downstream_gene_variant,,ENST00000588083,;	T	ENST00000591517	Transcript	synonymous_variant	989/2700	960/2502	320/833	S	tcC/tcA		1		-1	MAP4K1	HGNC	HGNC:6863	protein_coding	YES	CCDS59385.1	ENSP00000465039	Q92918		UPI00000747ED	NM_007181.5			13/32		hmmpanther:PTHR24361:SF88,hmmpanther:PTHR24361,PIRSF_domain:PIRSF038172																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	38609642	38609642	G	T	1	0	0	0	0	0	0	0	1	9183	1335	47	2		2	MAP4K1	19	38609642	Silent	SNP	G	C3L-00144_TP	194576	38609642	20007974	1565	5844											
FCGBP	0	.	GRCh38	chr19	39914166	39914166	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgacagtcaggccaaagTccgtgcgcacgacggcatcc	11	5	12	13	4	1	1	1	1	0	0	3	2	3	1	3	2	1	2	3	2	2	0	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.2921A>T	p.Asp974Val	p.D974V	ENST00000616721	6/28	317	287	30	229	229	0	strelka-varscan-mutect	FCGBP,missense_variant,p.Asp974Val,ENST00000616721,NM_003890.2;	A	ENST00000616721	Transcript	missense_variant	2929/12787	2921/12615	974/4204	D/V	gAc/gTc		1		-1	FCGBP	HGNC	HGNC:13572	protein_coding	YES		ENSP00000481056		A0A087WXI2	UPI0004620B9E	NM_003890.2	deleterious(0)		6/28		Pfam_domain:PF00094,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF244,SMART_domains:SM00216																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	39914166	39914166	T	A	1	0	0	0	0	1	0	0	0	5641	1667	58	4		4	FCGBP	19	39914166	Missense_Mutation	SNP	T	C3L-00144_TP	1304524	39914166	18703450	1566	5845											
MAP3K10	0	.	GRCh38	chr19	40204530	40204530	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgacgggggaggtcccctaCcgtgagatcgacgccttggc	6	7	15	13	4	0	2	0	2	0	1	2	5	1	3	4	4	1	0	4	4	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.909C>A	p.Tyr303Ter	p.Y303*	ENST00000253055	3/10	118	104	14	99	99	0	strelka-varscan-mutect	MAP3K10,stop_gained,p.Tyr303Ter,ENST00000253055,NM_002446.3;MAP3K10,non_coding_transcript_exon_variant,,ENST00000593906,;MAP3K10,stop_gained,p.Tyr53Ter,ENST00000597986,;MAP3K10,intron_variant,,ENST00000593502,;MAP3K10,intron_variant,,ENST00000594951,;MAP3K10,upstream_gene_variant,,ENST00000594791,;MAP3K10,upstream_gene_variant,,ENST00000601702,;MAP3K10,upstream_gene_variant,,ENST00000594569,;	A	ENST00000253055	Transcript	stop_gained	1197/3436	909/2865	303/954	Y/*	taC/taA		1		1	MAP3K10	HGNC	HGNC:6849	protein_coding	YES	CCDS12549.1	ENSP00000253055	Q02779		UPI000013CDAC	NM_002446.3			3/10		PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF515,Pfam_domain:PF07714,PIRSF_domain:PIRSF000556,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR00109																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	40204530	40204530	C	A	1	0	0	0	0	0	1	0	0	9166	518	18	2		2	MAP3K10	19	40204530	Nonsense_Mutation	SNP	C	C3L-00144_TP	290364	40204530	18413086	1567	5846											
PRR19	0	.	GRCh38	chr19	42310705	42310705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagtagcccagagcagtccgGaagcctggtcttttccaccc	8	9	10	14	1	1	1	0	0	1	1	3	2	3	2	5	2	3	2	5	2	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1036G>A	p.Glu346Lys	p.E346K	ENST00000499536	2/2	30	18	12	21	21	0	strelka-varscan-mutect	PRR19,missense_variant,p.Glu346Lys,ENST00000499536,;PRR19,missense_variant,p.Glu346Lys,ENST00000341747,NM_199285.2;PRR19,3_prime_UTR_variant,,ENST00000598490,;TMEM145,upstream_gene_variant,,ENST00000598766,;TMEM145,upstream_gene_variant,,ENST00000301204,NM_173633.2;PRR19,downstream_gene_variant,,ENST00000595750,;TMEM145,upstream_gene_variant,,ENST00000601020,;TMEM145,upstream_gene_variant,,ENST00000595775,;	A	ENST00000499536	Transcript	missense_variant	1847/1956	1036/1071	346/356	E/K	Gaa/Aaa		1		1	PRR19	HGNC	HGNC:33728	protein_coding	YES	CCDS33036.1	ENSP00000445247	A6NJB7		UPI000016101F		deleterious(0)		2/2		hmmpanther:PTHR37346,Pfam_domain:PF15455																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	42310705	42310705	G	A	1	0	0	0	0	1	0	0	0	12727	1175	41	3		3	PRR19	19	42310705	Missense_Mutation	SNP	G	C3L-00144_TP	2106175	42310705	16306911	1568	5847											
MEGF8	0	.	GRCh38	chr19	42355787	42355787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcactgggaggccaatGgctcctcatcctggggcttc	5	10	13	13	0	1	0	1	0	0	0	4	1	3	1	3	5	2	4	3	5	1	1	rs778640003		C3L-00144_TP	C3L-00144_NB	G	G																c.4174G>T	p.Gly1392Cys	p.G1392C	ENST00000251268	24/42	142	98	44	96	96	0	strelka-varscan-mutect	MEGF8,missense_variant,p.Gly1325Cys,ENST00000334370,NM_001410.2;MEGF8,missense_variant,p.Gly1392Cys,ENST00000251268,NM_001271938.1;MEGF8,5_prime_UTR_variant,,ENST00000378073,;MIR8077,downstream_gene_variant,,ENST00000618566,;MEGF8,downstream_gene_variant,,ENST00000593840,;	T	ENST00000251268	Transcript	missense_variant	4174/9549	4174/8538	1392/2845	G/C	Ggc/Tgc	rs778640003	1		1	MEGF8	HGNC	HGNC:3233	protein_coding	YES	CCDS62693.1	ENSP00000251268	Q7Z7M0		UPI00005788D1	NM_001271938.1	tolerated(0.05)		24/42		PROSITE_profiles:PS01180																	MODERATE	1	SNV	5			1										PASS		rs778640003	.												T	3	4	12	42355787	42355787	G	T	1	0	0	0	0	1	0	0	0	9403	1348	47	2		2	MEGF8	19	42355787	Missense_Mutation	SNP	G	C3L-00144_TP	45082	42355787	16261829	1569	5848											
PSG1	0	.	GRCh38	chr19	42878087	42878087	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatatataattatttcacCgtctactacatatgatgtaa	14	15	3	9	1	2	1	1	1	1	0	2	1	2	1	2	0	2	1	2	0	8	9	rs532735187		C3L-00144_TP	C3L-00144_NB	C	C																c.256G>T	p.Gly86Cys	p.G86C	ENST00000312439	2/6	344	318	26	231	231	0	varscan-mutect	PSG1,missense_variant,p.Gly86Cys,ENST00000244296,NM_006905.2;PSG1,missense_variant,p.Gly86Cys,ENST00000436291,NM_001184825.1;PSG1,missense_variant,p.Gly86Cys,ENST00000595356,NM_001184826.1;PSG1,missense_variant,p.Gly86Cys,ENST00000312439,NM_001297773.1;PSG1,missense_variant,p.Gly86Cys,ENST00000403380,;PSG1,missense_variant,p.Gly86Cys,ENST00000595124,;PSG1,missense_variant,p.Gly15Cys,ENST00000595930,;PSG1,missense_variant,p.Gly7Cys,ENST00000597058,;PSG1,non_coding_transcript_exon_variant,,ENST00000601073,;PSG1,non_coding_transcript_exon_variant,,ENST00000601456,;	A	ENST00000312439	Transcript	missense_variant	342/1882	256/1287	86/428	G/C	Ggt/Tgt	rs532735187	1		-1	PSG1	HGNC	HGNC:9514	protein_coding	YES	CCDS74380.1	ENSP00000308970	P11464		UPI000006DB43	NM_001297773.1	deleterious(0.03)		2/6		Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs532735187	.												A	3	1	12	42878087	42878087	C	A	1	0	0	0	0	1	0	0	0	12804	652	23	1		1	PSG1	19	42878087	Missense_Mutation	SNP	C	C3L-00144_TP	522300	42878087	15739529	1570	5849											
PSG7	0	.	GRCh38	chr19	42929720	42929720	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagggtttgggagtctccActgtgcggaaaacagagaga	11	8	16	6	1	1	2	0	0	1	2	2	6	1	5	1	4	2	1	1	4	2	1	rs745772540		C3L-00144_TP	C3L-00144_NB	A	A																c.65T>A	p.Val22Glu	p.V22E	ENST00000623675	2/5	112	84	28	102	101	1	strelka-varscan-mutect	PSG7,missense_variant,p.Leu144Gln,ENST00000446844,;PSG7,missense_variant,p.Leu144Gln,ENST00000406070,NM_002783.2,NM_001290042.1;PSG7,missense_variant,p.Leu144Gln,ENST00000617049,;PSG7,missense_variant,p.Val22Glu,ENST00000623675,NM_001206650.1;PSG7,splice_region_variant,,ENST00000599620,;PSG7,upstream_gene_variant,,ENST00000599226,;	T	ENST00000623675	Transcript	missense_variant,splice_region_variant	87/1392	65/894	22/297	V/E	gTg/gAg	rs745772540	1		-1	PSG7	HGNC	HGNC:9524	protein_coding	YES	CCDS77310.1	ENSP00000485117		A0A096LNM5	UPI000209A891	NM_001206650.1	deleterious(0.02)		2/5																			MODERATE	1	SNV	1			1										PASS		rs745772540	.												T	3	4	12	42929720	42929720	A	T	1	0	0	0	0	1	0	0	0	12811	173	6	4		4	PSG7	19	42929720	Missense_Mutation	SNP	A	C3L-00144_TP	51633	42929720	15687896	1571	5850											
PSG4	0	.	GRCh38	chr19	43204041	43204041	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttccactgtatgcaggcCcatatataattctttgaccg	9	14	6	12	1	2	1	0	1	2	0	3	1	3	1	3	1	1	2	3	1	4	7	rs758535731		C3L-00144_TP	C3L-00144_NB	C	C																c.275G>C	p.Gly92Ala	p.G92A	ENST00000405312	2/6	345	313	32	267	267	0	strelka-varscan-mutect	PSG4,missense_variant,p.Gly92Ala,ENST00000405312,NM_002780.4;PSG4,missense_variant,p.Gly92Ala,ENST00000433626,NM_001276495.1;PSG4,missense_variant,p.Gly92Ala,ENST00000244295,NM_213633.2;PSG4,missense_variant,p.Gly108Ala,ENST00000451895,;PSG4,missense_variant,p.Gly71Ala,ENST00000599746,;PSG4,missense_variant,p.Gly21Ala,ENST00000600572,;PSG4,intron_variant,,ENST00000596907,;PSG4,intron_variant,,ENST00000599391,;PSG4,non_coding_transcript_exon_variant,,ENST00000597912,;PSG4,non_coding_transcript_exon_variant,,ENST00000495316,;PSG4,intron_variant,,ENST00000595949,;PSG4,intron_variant,,ENST00000601041,;PSG4,intron_variant,,ENST00000596199,;	G	ENST00000405312	Transcript	missense_variant	513/2168	275/1260	92/419	G/A	gGg/gCg	rs758535731	1		-1	PSG4	HGNC	HGNC:9521	protein_coding	YES	CCDS46093.1	ENSP00000384770	Q00888		UPI000034ECBA	NM_002780.4	deleterious(0)		2/6		hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs758535731	.												G	3	3	12	43204041	43204041	C	G	1	0	0	0	0	1	0	0	0	12808	623	22	4		4	PSG4	19	43204041	Missense_Mutation	SNP	C	C3L-00144_TP	274321	43204041	15413575	1572	5851											
CD177	0	.	GRCh38	chr19	43362116	43362116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaccaaaatgagcattcaGggctgcgtggcccaaccttc	10	8	9	14	1	1	1	1	1	0	0	3	1	2	1	4	2	3	2	4	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1110G>A	p.=	p.Q370Q	ENST00000618265	9/9	127	112	15	75	75	0	varscan-mutect	CD177,synonymous_variant,p.=,ENST00000618265,NM_020406.3;CTC-490G23.4,intron_variant,,ENST00000607109,;CD177,3_prime_UTR_variant,,ENST00000378012,;	A	ENST00000618265	Transcript	synonymous_variant	1166/2222	1110/1314	370/437	Q	caG/caA		1		1	CD177	HGNC	HGNC:30072	protein_coding	YES	CCDS62700.1	ENSP00000479536		A0A087WVM2	UPI0000DB6A71	NM_020406.3			9/9		hmmpanther:PTHR16529,hmmpanther:PTHR16529:SF8,Pfam_domain:PF00021,Superfamily_domains:SSF57302																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	43362116	43362116	G	A	1	0	0	0	0	0	0	0	1	2674	991	35	3		3	CD177	19	43362116	Silent	SNP	G	C3L-00144_TP	158075	43362116	15255500	1573	5852											
ZNF230	0	.	GRCh38	chr19	44010727	44010727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattcaaatgtgagcaatgtGggaaaggcttcagatgtaga	14	10	12	5	0	2	3	2	1	0	2	2	4	2	4	0	2	1	3	0	2	4	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.688G>T	p.Gly230Trp	p.G230W	ENST00000429154	5/5	439	401	38	317	316	1	strelka-varscan-mutect	ZNF230,missense_variant,p.Gly230Trp,ENST00000429154,NM_006300.3;ZNF230,downstream_gene_variant,,ENST00000585491,;ZNF230,downstream_gene_variant,,ENST00000585632,;ZNF230,3_prime_UTR_variant,,ENST00000585568,;	T	ENST00000429154	Transcript	missense_variant	916/4115	688/1425	230/474	G/W	Ggg/Tgg		1		1	ZNF230	HGNC	HGNC:13024	protein_coding	YES	CCDS33044.1	ENSP00000409318	Q9UIE0		UPI000016960C	NM_006300.3	deleterious(0)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF176,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	44010727	44010727	G	T	1	0	0	0	0	1	0	0	0	18361	1348	47	2		2	ZNF230	19	44010727	Missense_Mutation	SNP	G	C3L-00144_TP	648611	44010727	14606889	1574	5853											
CEACAM20	0	.	GRCh38	chr19	44517074	44517074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgctcacccaggtgctccCcggtggagtgttcaagagtc	6	9	13	13	1	2	1	2	0	0	1	4	2	3	2	3	3	2	4	3	3	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1181G>A	p.Gly394Glu	p.G394E	ENST00000614924	6/12	632	583	49	480	480	0	strelka-varscan-mutect	CEACAM20,missense_variant,p.Gly394Glu,ENST00000621342,;CEACAM20,missense_variant,p.Gly394Glu,ENST00000617951,;CEACAM20,missense_variant,p.Gly394Glu,ENST00000614924,NM_001102597.2;CEACAM20,missense_variant,p.Gly394Glu,ENST00000611497,NM_001102600.2;CEACAM20,intron_variant,,ENST00000614577,NM_001102599.2;CEACAM20,intron_variant,,ENST00000620096,NM_001102598.2;	T	ENST00000614924	Transcript	missense_variant	1197/1809	1181/1791	394/596	G/E	gGg/gAg		1		-1	CEACAM20	HGNC	HGNC:24879	protein_coding	YES	CCDS74393.1	ENSP00000481937		A0A087WYM6	UPI0003EC04B5	NM_001102597.2	tolerated(1)		6/12		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	44517074	44517074	C	T	1	0	0	0	0	1	0	0	0	2897	623	22	3		3	CEACAM20	19	44517074	Missense_Mutation	SNP	C	C3L-00144_TP	506347	44517074	14100542	1575	5854											
MARK4	0	.	GRCh38	chr19	45294405	45294405	+	Frame_Shift_Del	DEL	C	C	-																															acctacgtttgcacagaacgCccgggggctgagcgcccgtc																										C3L-00144_TP	C3L-00144_NB	C	C																c.1553delC	p.Pro518ArgfsTer102	p.P518Rfs*102	ENST00000262891	14/17	286	195	91	241	241	0	sindel-varindel-pindel	MARK4,frameshift_variant,p.Pro518ArgfsTer102,ENST00000300843,NM_031417.3;MARK4,frameshift_variant,p.Pro518ArgfsTer102,ENST00000262891,NM_001199867.1;MARK4,intron_variant,,ENST00000620044,;MARK4,intron_variant,,ENST00000622871,;	-	ENST00000262891	Transcript	frameshift_variant	1882/3573	1551/2259	517/752	R/X	cgC/cg	COSM4700743,COSM4700744	1		1	MARK4	HGNC	HGNC:13538	protein_coding	YES	CCDS56097.1	ENSP00000262891	Q96L34		UPI0000044D47	NM_001199867.1			14/17		hmmpanther:PTHR24346											1,1						HIGH	1	deletion	1	2	1,1	1										PASS		.	.												-	7	5	12	45294405	45294405	C	-	1	0	1	0	1	0	0	0	0	9240	726	26	0		0	MARK4	19	45294405	Frame_Shift_Del	DEL	C	C3L-00144_TP	777331	45294405	13323211	1576	5855											
IRF2BP1	0	.	GRCh38	chr19	45884313	45884313	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgccgctgccaccccCgctgacagcttcggcccccg	4	5	10	22	4	0	1	0	1	0	0	1	1	0	1	7	1	3	3	7	1	0	1	rs773353053		C3L-00144_TP	C3L-00144_NB	C	C																c.1462G>C	p.Gly488Arg	p.G488R	ENST00000302165	1/1	187	128	59	146	146	0	strelka-varscan-mutect	IRF2BP1,missense_variant,p.Gly488Arg,ENST00000302165,NM_015649.2;	G	ENST00000302165	Transcript	missense_variant	1858/2564	1462/1755	488/584	G/R	Ggg/Cgg	rs773353053,COSM1579926	1		-1	IRF2BP1	HGNC	HGNC:21728	protein_coding	YES	CCDS12678.1	ENSP00000307265	Q8IU81		UPI00000747C7	NM_015649.2	tolerated(0.54)		1/1		hmmpanther:PTHR10816,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV			0,1	1										PASS		rs773353053	.												G	3	3	12	45884313	45884313	C	G	1	0	0	0	0	1	0	0	0	7735	652	23	4		4	IRF2BP1	19	45884313	Missense_Mutation	SNP	C	C3L-00144_TP	589908	45884313	12733303	1577	5856											
NOVA2	0	.	GRCh38	chr19	45953856	45953856	+	Missense_Mutation	SNP	G	G	A																															caggcttggtcatcgcttgtGggatttctcggaccttctcg																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.320C>T	p.Pro107Leu	p.P107L	ENST00000263257	3/4	307	222	85	224	223	1	strelka-varscan-mutect	NOVA2,missense_variant,p.Pro107Leu,ENST00000263257,NM_002516.2;NOVA2,5_prime_UTR_variant,,ENST00000596784,;	A	ENST00000263257	Transcript	missense_variant	515/7803	320/1479	107/492	P/L	cCa/cTa		1		-1	NOVA2	HGNC	HGNC:7887	protein_coding	YES	CCDS12679.1	ENSP00000263257	Q9UNW9		UPI000006EBE8	NM_002516.2	deleterious(0)		3/4		hmmpanther:PTHR10288:SF162,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	45953856	45953856	G	A	1	0	0	0	0	1	0	0	0	10601	1348	47	3		3	NOVA2	19	45953856	Missense_Mutation	SNP	G	C3L-00144_TP	69543	45953856	12663760	1578	5857	133	2									
NOVA2	0	.	GRCh38	chr19	45953857	45953857	+	Missense_Mutation	SNP	G	G	T																															aggcttggtcatcgcttgtgGgatttctcggaccttctcgg																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.319C>A	p.Pro107Thr	p.P107T	ENST00000263257	3/4	305	222	83	226	226	0	strelka-varscan-mutect	NOVA2,missense_variant,p.Pro107Thr,ENST00000263257,NM_002516.2;NOVA2,5_prime_UTR_variant,,ENST00000596784,;	T	ENST00000263257	Transcript	missense_variant	514/7803	319/1479	107/492	P/T	Cca/Aca		1		-1	NOVA2	HGNC	HGNC:7887	protein_coding	YES	CCDS12679.1	ENSP00000263257	Q9UNW9		UPI000006EBE8	NM_002516.2	deleterious(0)		3/4		hmmpanther:PTHR10288:SF162,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	45953857	45953857	G	T	1	0	0	0	0	1	0	0	0	10601	1232	43	2		2	NOVA2	19	45953857	Missense_Mutation	SNP	G	C3L-00144_TP	1	45953857	12663759	1579	5858	133	2									
IGFL3	0	.	GRCh38	chr19	46124036	46124036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtggagccacagcggCgggtctcctttaaggataag	9	8	15	9	2	1	0	0	0	1	0	2	2	1	2	2	5	3	1	2	5	2	3	rs759215266		C3L-00144_TP	C3L-00144_NB	C	C																c.200G>T	p.Arg67Leu	p.R67L	ENST00000341415	3/4	259	222	37	217	217	0	strelka-varscan-mutect	IGFL3,missense_variant,p.Arg67Leu,ENST00000341415,NM_207393.1;AC007193.6,intron_variant,,ENST00000597989,;	A	ENST00000341415	Transcript	missense_variant	225/662	200/378	67/125	R/L	cGc/cTc	rs759215266	1		-1	IGFL3	HGNC	HGNC:32930	protein_coding	YES	CCDS33058.1	ENSP00000344860	Q6UXB1		UPI000003597A	NM_207393.1	deleterious(0.01)		3/4		hmmpanther:PTHR34827:SF1,hmmpanther:PTHR34827,Pfam_domain:PF14653																	MODERATE	1	SNV	1			1										PASS		rs759215266	.												A	3	1	12	46124036	46124036	C	A	1	0	0	0	0	1	0	0	0	7494	768	27	1		1	IGFL3	19	46124036	Missense_Mutation	SNP	C	C3L-00144_TP	170179	46124036	12493580	1580	5859											
PTGIR	0	.	GRCh38	chr19	46623875	46623875	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggctcagcgccaggcaGcgctccacggccatggcaaa	8	4	15	14	3	1	0	1	0	0	0	2	0	2	0	3	5	2	4	3	5	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.351C>A	p.=	p.R117R	ENST00000291294	2/3	142	126	16	118	118	0	strelka-varscan-mutect	PTGIR,synonymous_variant,p.=,ENST00000291294,NM_000960.3;PTGIR,synonymous_variant,p.=,ENST00000596260,;PTGIR,intron_variant,,ENST00000597185,;PTGIR,intron_variant,,ENST00000598865,;PTGIR,intron_variant,,ENST00000594275,;PTGIR,non_coding_transcript_exon_variant,,ENST00000595460,;	T	ENST00000291294	Transcript	synonymous_variant	485/2107	351/1161	117/386	R	cgC/cgA		1		-1	PTGIR	HGNC	HGNC:9602	protein_coding	YES	CCDS12686.1	ENSP00000291294	P43119		UPI000005042B	NM_000960.3			2/3		PROSITE_profiles:PS50262,hmmpanther:PTHR11866:SF7,hmmpanther:PTHR11866,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	46623875	46623875	G	T	1	0	0	0	0	0	0	0	1	12907	958	34	2		2	PTGIR	19	46623875	Silent	SNP	G	C3L-00144_TP	499839	46623875	11993741	1581	5860											
DACT3	0	.	GRCh38	chr19	46649474	46649474	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagggctcccgcgcgggtcGcgcgctgccgggggacggag	3	3	21	14	9	0	0	0	0	0	0	2	3	1	2	2	5	1	2	2	5	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.898C>A	p.=	p.R300R	ENST00000391916	4/4	26	21	5	20	20	0	strelka-mutect	DACT3,synonymous_variant,p.=,ENST00000391916,NM_145056.2;DACT3,synonymous_variant,p.=,ENST00000300875,NM_001301046.1;DACT3,downstream_gene_variant,,ENST00000410105,;	T	ENST00000391916	Transcript	synonymous_variant	972/2834	898/1890	300/629	R	Cga/Aga		1		-1	DACT3	HGNC	HGNC:30745	protein_coding	YES	CCDS12688.2	ENSP00000375783	Q96B18		UPI0000202707	NM_145056.2			4/4		hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF1																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	12	46649474	46649474	G	T	1	0	0	0	0	0	0	0	1	4025	1095	38	1		1	DACT3	19	46649474	Silent	SNP	G	C3L-00144_TP	25599	46649474	11968142	1582	5861											
NPAS1	0	.	GRCh38	chr19	47039443	47039443	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccttcgggcccacgccCtgggccttgtggccctcggg	1	7	16	17	4	0	0	0	0	0	0	2	0	0	0	5	5	0	0	5	5	0	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.841C>G	p.Leu281Val	p.L281V	ENST00000602212	8/12	199	189	10	129	129	0	strelka-varscan-mutect	NPAS1,missense_variant,p.Leu281Val,ENST00000602212,;NPAS1,missense_variant,p.Leu281Val,ENST00000449844,NM_002517.2;NPAS1,missense_variant,p.Leu106Val,ENST00000602189,;NPAS1,missense_variant,p.Leu105Val,ENST00000439365,NM_001321086.1;NPAS1,missense_variant,p.Leu105Val,ENST00000594670,;NPAS1,non_coding_transcript_exon_variant,,ENST00000600352,;NPAS1,intron_variant,,ENST00000601169,;NPAS1,intron_variant,,ENST00000594257,;	G	ENST00000602212	Transcript	missense_variant	1061/2117	841/1773	281/590	L/V	Ctg/Gtg		1		1	NPAS1	HGNC	HGNC:7894	protein_coding	YES	CCDS12694.1	ENSP00000469142	Q99742		UPI0000073CD1		tolerated(0.42)		8/12		hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF25																	MODERATE	1	SNV	1			1										PASS		rs753683869	.												G	3	3	12	47039443	47039443	C	G	1	0	0	0	0	1	0	0	0	10610	680	24	4		4	NPAS1	19	47039443	Missense_Mutation	SNP	C	C3L-00144_TP	389969	47039443	11578173	1583	5862											
RASIP1	0	.	GRCh38	chr19	48724920	48724920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcaccagctgtgaaaGggttactatccaggagagca	11	8	12	10	0	1	2	0	1	1	1	2	3	2	2	2	2	4	5	2	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2168C>A	p.Pro723His	p.P723H	ENST00000222145	9/12	260	172	88	224	223	1	strelka-varscan-mutect	RASIP1,missense_variant,p.Pro723His,ENST00000222145,NM_017805.2;RASIP1,missense_variant,p.Pro153His,ENST00000599291,;RASIP1,downstream_gene_variant,,ENST00000594232,;RASIP1,non_coding_transcript_exon_variant,,ENST00000601530,;	T	ENST00000222145	Transcript	missense_variant	2373/3308	2168/2892	723/963	P/H	cCt/cAt		1		-1	RASIP1	HGNC	HGNC:24716	protein_coding	YES	CCDS12731.1	ENSP00000222145	Q5U651		UPI000020283D	NM_017805.2	deleterious(0.03)		9/12		PROSITE_profiles:PS51126,hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	48724920	48724920	G	T	1	0	0	0	0	1	0	0	0	13239	1000	35	2		2	RASIP1	19	48724920	Missense_Mutation	SNP	G	C3L-00144_TP	1685477	48724920	9892696	1584	5863											
CGB5	0	.	GRCh38	chr19	49045079	49045079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctccctggctgcccgcgcGgcgtgaaccccgtggtctcc	2	7	14	18	5	1	1	0	1	1	0	3	1	2	1	5	4	2	2	5	4	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.283G>T	p.Gly95Cys	p.G95C	ENST00000301408	3/3	86	75	11	77	77	0	varscan-mutect	CGB5,missense_variant,p.Gly95Cys,ENST00000301408,NM_033043.1;CGB8,downstream_gene_variant,,ENST00000448456,NM_033183.2;CTB-60B18.17,downstream_gene_variant,,ENST00000593746,;	T	ENST00000301408	Transcript	missense_variant	609/841	283/498	95/165	G/C	Ggc/Tgc		1		1	CGB5	HGNC	HGNC:16452	protein_coding	YES	CCDS12752.1	ENSP00000301408	P0DN86	A0A0F7RQP8	UPI0000035497	NM_033043.1	deleterious(0)		3/3		hmmpanther:PTHR11515:SF16,hmmpanther:PTHR11515,Gene3D:2.10.90.10,Pfam_domain:PF00007,SMART_domains:SM00068,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		rs1380257856	.												T	3	4	12	49045079	49045079	G	T	1	0	0	0	0	1	0	0	0	3057	1116	39	1		1	CGB5	19	49045079	Missense_Mutation	SNP	G	C3L-00144_TP	320159	49045079	9572537	1585	5864											
TRPM4	0	.	GRCh38	chr19	49190209	49190209	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttcccaccccccacagtCtctgctgacacagaagtggt	8	9	7	17	0	1	2	0	1	1	1	4	2	3	2	5	1	1	1	5	1	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2021C>G	p.Ser674Cys	p.S674C	ENST00000252826	15/25	282	261	21	196	196	0	strelka-varscan-mutect	TRPM4,missense_variant,p.Ser674Cys,ENST00000252826,NM_017636.3;TRPM4,missense_variant,p.Ser674Cys,ENST00000427978,NM_001195227.1;TRPM4,splice_region_variant,,ENST00000596338,;TRPM4,splice_region_variant,,ENST00000595519,NM_001321283.1;TRPM4,splice_region_variant,,ENST00000598502,NM_001321282.1;TRPM4,splice_region_variant,,ENST00000598697,NM_001321285.1;TRPM4,splice_region_variant,,ENST00000595071,;TRPM4,intron_variant,,ENST00000595882,;	G	ENST00000252826	Transcript	missense_variant,splice_region_variant	2147/4109	2021/3645	674/1214	S/C	tCt/tGt		1		1	TRPM4	HGNC	HGNC:17993	protein_coding	YES	CCDS33073.1	ENSP00000252826	Q8TD43		UPI0000070598	NM_017636.3	deleterious(0)		15/25		hmmpanther:PTHR13800:SF6,hmmpanther:PTHR13800																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	49190209	49190209	C	G	1	0	0	0	0	1	0	0	0	17094	927	32	4		4	TRPM4	19	49190209	Missense_Mutation	SNP	C	C3L-00144_TP	145130	49190209	9427407	1586	5865											
ASPDH	0	.	GRCh38	chr19	50512577	50512577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccatggtgacacgaaGgctctggaagcaagagcccg	10	6	15	10	2	1	2	0	1	1	1	1	4	1	3	2	4	2	2	2	4	3	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.436C>A	p.Leu146Ile	p.L146I	ENST00000389208	5/7	27	17	10	14	14	0	strelka-varscan-mutect	ASPDH,missense_variant,p.Leu146Ile,ENST00000389208,NM_001114598.1;ASPDH,missense_variant,p.Leu41Ile,ENST00000376916,NM_001024656.2;ASPDH,5_prime_UTR_variant,,ENST00000601207,;LRRC4B,downstream_gene_variant,,ENST00000599957,;LRRC4B,downstream_gene_variant,,ENST00000389201,NM_001080457.1;JOSD2,upstream_gene_variant,,ENST00000598418,NM_001270640.1,NM_001270639.1;JOSD2,upstream_gene_variant,,ENST00000601423,NM_138334.3,NM_001270686.1;JOSD2,upstream_gene_variant,,ENST00000595669,NM_001270641.1;JOSD2,upstream_gene_variant,,ENST00000594350,;ASPDH,downstream_gene_variant,,ENST00000598657,;ASPDH,non_coding_transcript_exon_variant,,ENST00000597030,;ASPDH,intron_variant,,ENST00000601287,;JOSD2,upstream_gene_variant,,ENST00000602146,;ASPDH,upstream_gene_variant,,ENST00000597232,;ASPDH,downstream_gene_variant,,ENST00000593569,;JOSD2,upstream_gene_variant,,ENST00000595718,;	T	ENST00000389208	Transcript	missense_variant	498/1040	436/852	146/283	L/I	Ctt/Att		1		-1	ASPDH	HGNC	HGNC:33856	protein_coding	YES	CCDS46153.1	ENSP00000373860	A6ND91		UPI00015B3C66	NM_001114598.1	deleterious(0.01)		5/7		Gene3D:3.30.360.10,PIRSF_domain:PIRSF005227,hmmpanther:PTHR31873,Superfamily_domains:SSF51735,Superfamily_domains:SSF55347																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	12	50512577	50512577	G	T	1	0	0	0	0	1	0	0	0	1198	1014	35	2		2	ASPDH	19	50512577	Missense_Mutation	SNP	G	C3L-00144_TP	1322368	50512577	8105039	1587	5866											
KLK3	0	.	GRCh38	chr19	50859995	50859995	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattctgggggcccacttgtCtgtaatggtgtgcttcaagg	6	13	14	8	0	3	0	1	0	2	0	3	1	3	0	1	4	1	2	1	4	2	4			C3L-00144_TP	C3L-00144_NB	C	C																c.654C>G	p.=	p.V218V	ENST00000326003	5/5	93	67	26	95	95	0	strelka-varscan-mutect	KLK3,synonymous_variant,p.=,ENST00000326003,NM_001648.2;KLK3,synonymous_variant,p.=,ENST00000617027,;KLK3,synonymous_variant,p.=,ENST00000595952,NM_001030048.1;KLK3,synonymous_variant,p.=,ENST00000598145,;KLK3,3_prime_UTR_variant,,ENST00000360617,NM_001030047.1;KLK3,downstream_gene_variant,,ENST00000593997,;KLK3,downstream_gene_variant,,ENST00000597483,;KLK3,downstream_gene_variant,,ENST00000601503,;KLK3,downstream_gene_variant,,ENST00000597286,;KLK2,upstream_gene_variant,,ENST00000593493,;KLK3,3_prime_UTR_variant,,ENST00000422986,;KLK3,3_prime_UTR_variant,,ENST00000596185,;KLK3,3_prime_UTR_variant,,ENST00000595392,;KLK3,non_coding_transcript_exon_variant,,ENST00000601349,;KLK3,non_coding_transcript_exon_variant,,ENST00000596333,;KLK3,non_coding_transcript_exon_variant,,ENST00000601812,;KLK3,downstream_gene_variant,,ENST00000595151,;	G	ENST00000326003	Transcript	synonymous_variant	695/1463	654/786	218/261	V	gtC/gtG	COSM5390452	1		1	KLK3	HGNC	HGNC:6364	protein_coding	YES	CCDS12807.1	ENSP00000314151	P07288	Q546G3	UPI0000001C9E	NM_001648.2			5/5		Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_patterns:PS00135,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF139,SMART_domains:SM00020,Superfamily_domains:SSF50494											1						LOW	1	SNV	1		1	1										PASS		.	.												G	2	3	12	50859995	50859995	C	G	1	0	0	0	0	0	0	0	1	8274	900	32	4		4	KLK3	19	50859995	Silent	SNP	C	C3L-00144_TP	347418	50859995	7757621	1588	5867											
KLK5	0	.	GRCh38	chr19	50949049	50949049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggatggatttgaccccctgGaacatctgctgcccagattc	8	10	11	12	0	1	2	0	1	1	1	2	5	1	5	3	3	3	1	3	3	1	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.402C>A	p.Phe134Leu	p.F134L	ENST00000336334	4/6	301	212	89	269	268	1	strelka-varscan-mutect	KLK5,missense_variant,p.Phe134Leu,ENST00000336334,NM_012427.4;KLK5,missense_variant,p.Phe134Leu,ENST00000391809,NM_001077491.1;KLK5,missense_variant,p.Phe134Leu,ENST00000593428,NM_001077492.1;KLK5,missense_variant,p.Phe134Leu,ENST00000594846,;CTB-147C22.8,upstream_gene_variant,,ENST00000601506,;CTB-147C22.8,upstream_gene_variant,,ENST00000594939,;KLK5,non_coding_transcript_exon_variant,,ENST00000595585,;	T	ENST00000336334	Transcript	missense_variant	755/1563	402/882	134/293	F/L	ttC/ttA		1		-1	KLK5	HGNC	HGNC:6366	protein_coding	YES	CCDS12810.1	ENSP00000337733	Q9Y337	A0A024R4G4	UPI000003751F	NM_012427.4	tolerated(0.77)		4/6		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF270,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	50949049	50949049	G	T	1	0	0	0	0	1	0	0	0	8276	1165	41	2		2	KLK5	19	50949049	Missense_Mutation	SNP	G	C3L-00144_TP	89054	50949049	7668567	1589	5868											
KLK12	0	.	GRCh38	chr19	51032116	51032116	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggctgaggctgtgttcccCcaggcgcacccagtacctgc	5	8	12	16	1	0	1	0	1	0	0	1	1	1	1	4	3	2	5	4	3	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.217G>T	p.Gly73Trp	p.G73W	ENST00000250351	4/7	510	455	55	405	404	1	strelka-varscan-mutect	KLK12,missense_variant,p.Gly73Trp,ENST00000525263,;KLK12,missense_variant,p.Gly73Trp,ENST00000319590,NM_145894.1;KLK12,missense_variant,p.Gly73Trp,ENST00000250351,NM_019598.2;KLK12,intron_variant,,ENST00000529888,NM_145895.1;KLK11,upstream_gene_variant,,ENST00000594768,NM_144947.1;KLK11,upstream_gene_variant,,ENST00000319720,NM_006853.2;KLK11,upstream_gene_variant,,ENST00000391804,NM_001167605.1;CTC-518B2.9,intron_variant,,ENST00000594910,;KLK11,upstream_gene_variant,,ENST00000594458,;KLK12,missense_variant,p.Gly73Trp,ENST00000531374,;KLK12,intron_variant,,ENST00000526824,;KLK12,intron_variant,,ENST00000530943,;KLK11,upstream_gene_variant,,ENST00000319756,;	A	ENST00000250351	Transcript	missense_variant	334/882	217/765	73/254	G/W	Ggg/Tgg		1		-1	KLK12	HGNC	HGNC:6360	protein_coding	YES	CCDS12820.1	ENSP00000250351	Q9UKR0		UPI000002ACDD	NM_019598.2	deleterious(0)		4/7		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF217,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	12	51032116	51032116	C	A	1	0	0	0	0	1	0	0	0	8269	623	22	2		2	KLK12	19	51032116	Missense_Mutation	SNP	C	C3L-00144_TP	83067	51032116	7585500	1590	5869											
SIGLEC9	0	.	GRCh38	chr19	51127145	51127145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgccaggctgagcctgagCtggagaggcctgaccctgtg	6	7	15	13	0	0	4	0	3	0	1	0	5	0	4	5	3	3	2	5	3	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.864C>T	p.=	p.S288S	ENST00000440804	4/7	457	336	121	346	345	1	strelka-varscan-mutect	SIGLEC9,synonymous_variant,p.=,ENST00000440804,NM_001198558.1;SIGLEC9,synonymous_variant,p.=,ENST00000250360,NM_014441.2;SIGLEC9,synonymous_variant,p.=,ENST00000599948,;SIGLEC18P,downstream_gene_variant,,ENST00000602271,;	T	ENST00000440804	Transcript	synonymous_variant	931/1960	864/1440	288/479	S	agC/agT		1		1	SIGLEC9	HGNC	HGNC:10878	protein_coding	YES	CCDS56100.1	ENSP00000413861	Q9Y336		UPI00017A75A8	NM_001198558.1			4/7		PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	12	51127145	51127145	C	T	1	0	0	0	0	0	0	0	1	14579	796	28	3		3	SIGLEC9	19	51127145	Silent	SNP	C	C3L-00144_TP	95029	51127145	7490471	1591	5870											
SIGLEC7	0	.	GRCh38	chr19	51142605	51142605	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctggaaggctccagtggCcacaaacaacccagcttggg	12	5	12	12	0	0	0	0	0	0	0	1	1	1	1	3	4	4	3	3	4	4	1	rs773967401		C3L-00144_TP	C3L-00144_NB	C	C																c.236C>A	p.Ala79Asp	p.A79D	ENST00000317643	1/7	418	370	48	314	314	0	strelka-varscan-mutect	SIGLEC7,missense_variant,p.Ala79Asp,ENST00000317643,NM_014385.3;SIGLEC7,missense_variant,p.Ala79Asp,ENST00000305628,NM_016543.3;SIGLEC7,missense_variant,p.Ala79Asp,ENST00000601682,;SIGLEC7,missense_variant,p.Ala79Asp,ENST00000600577,NM_001277201.1;SIGLEC7,missense_variant,p.Ala79Asp,ENST00000536156,;SIGLEC7,upstream_gene_variant,,ENST00000599250,;CTD-3187F8.15,downstream_gene_variant,,ENST00000601996,;SIGLEC19P,upstream_gene_variant,,ENST00000600623,;	A	ENST00000317643	Transcript	missense_variant	305/1754	236/1404	79/467	A/D	gCc/gAc	rs773967401	1		1	SIGLEC7	HGNC	HGNC:10876	protein_coding	YES	CCDS12826.1	ENSP00000323328	Q9Y286		UPI000011B40B	NM_014385.3	deleterious(0)		1/7		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs773967401	.												A	3	1	12	51142605	51142605	C	A	1	0	0	0	0	1	0	0	0	14577	739	26	2		2	SIGLEC7	19	51142605	Missense_Mutation	SNP	C	C3L-00144_TP	15460	51142605	7475011	1592	5871											
IGLON5	0	.	GRCh38	chr19	51323780	51323780	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctcatcaacacccccGaggagttctccatcctcatc	8	9	7	17	1	4	0	3	0	1	0	7	2	5	1	4	2	2	3	4	2	1	1	rs527872132		C3L-00144_TP	C3L-00144_NB	G	G																c.277G>T	p.Glu93Ter	p.E93*	ENST00000270642	3/8	185	171	14	151	151	0	varscan-mutect	IGLON5,stop_gained,p.Glu93Ter,ENST00000270642,NM_001101372.1;	T	ENST00000270642	Transcript	stop_gained	277/2606	277/1011	93/336	E/*	Gag/Tag	rs527872132,COSM287159	1		1	IGLON5	HGNC	HGNC:34550	protein_coding	YES	CCDS46158.1	ENSP00000270642	A6NGN9		UPI000058F1A8	NM_001101372.1			3/8		Gene3D:2.60.40.10,Pfam_domain:PF00047,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF148,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						HIGH	1	SNV	5		0,1	1										PASS		rs527872132	.												T	4	4	12	51323780	51323780	G	T	1	0	0	0	0	0	1	0	0	7502	1059	37	1		1	IGLON5	19	51323780	Nonsense_Mutation	SNP	G	C3L-00144_TP	181175	51323780	7293836	1593	5872											
NKG7	0	.	GRCh38	chr19	51371972	51371972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggatagctgagacccagCccaggtagaaggaccaggag	14	3	15	9	0	0	3	0	1	0	3	0	7	0	6	3	4	2	2	3	4	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.407G>C	p.Gly136Ala	p.G136A	ENST00000221978	3/4	119	82	37	96	96	0	strelka-varscan-mutect	NKG7,missense_variant,p.Gly136Ala,ENST00000221978,NM_005601.3;NKG7,missense_variant,p.Ala130Pro,ENST00000595217,;NKG7,missense_variant,p.Gly43Ala,ENST00000593572,;NKG7,missense_variant,p.Gly60Ala,ENST00000595157,;NKG7,intron_variant,,ENST00000600427,;CLDND2,upstream_gene_variant,,ENST00000291715,NM_152353.2;CLDND2,upstream_gene_variant,,ENST00000601435,;CLDND2,upstream_gene_variant,,ENST00000593841,;CTD-2616J11.11,upstream_gene_variant,,ENST00000600067,;	G	ENST00000221978	Transcript	missense_variant	587/843	407/498	136/165	G/A	gGc/gCc		1		-1	NKG7	HGNC	HGNC:7830	protein_coding	YES	CCDS12830.1	ENSP00000221978	Q16617		UPI00001301FE	NM_005601.3	tolerated(0.08)		3/4		Pfam_domain:PF00822,hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF34,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	51371972	51371972	C	G	1	0	0	0	0	1	0	0	0	10478	739	26	4		4	NKG7	19	51371972	Missense_Mutation	SNP	C	C3L-00144_TP	48192	51371972	7245644	1594	5873											
AC018755.18	0	.	GRCh38	chr19	51646303	51646303	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtagctatattttacAtcccttcctctctccacgcg	6	16	6	13	2	1	0	0	0	1	0	5	0	4	0	3	1	2	3	3	1	4	7	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.375T>A	p.Asp125Glu	p.D125E	ENST00000360844	2/7	151	136	15	114	114	0	varscan-mutect	SIGLEC14,missense_variant,p.Asp125Glu,ENST00000360844,NM_001098612.1;AC018755.18,missense_variant,p.Asp125Glu,ENST00000599649,;AC018755.18,intron_variant,,ENST00000429354,;SIGLEC5,upstream_gene_variant,,ENST00000534261,NM_003830.3;SIGLEC14,upstream_gene_variant,,ENST00000533866,;RPL7P51,upstream_gene_variant,,ENST00000490532,;	T	ENST00000360844	Transcript	missense_variant	417/2035	375/1191	125/396	D/E	gaT/gaA		1		-1	SIGLEC14	HGNC	HGNC:32926	protein_coding	YES	CCDS42604.1	ENSP00000354090	Q08ET2		UPI0000E44158	NM_001098612.1	tolerated(0.42)		2/7		PROSITE_profiles:PS50835,hmmpanther:PTHR12035:SF67,hmmpanther:PTHR12035,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1233286194	.												T	3	4	12	51646303	51646303	A	T	1	0	0	0	0	1	0	0	0	125	214	8	4		4	AC018755.18	19	51646303	Missense_Mutation	SNP	A	C3L-00144_TP	274331	51646303	6971313	1595	5874											
HAS1	0	.	GRCh38	chr19	51713701	51713701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccggcccgaggtgcccCagccactctggttcatggtg	4	8	13	16	3	2	0	1	0	1	0	3	1	3	0	6	4	2	1	6	4	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1463G>T	p.Trp488Leu	p.W488L	ENST00000222115	5/5	257	169	88	231	230	1	strelka-varscan-mutect	HAS1,missense_variant,p.Trp487Leu,ENST00000540069,NM_001297436.1;HAS1,missense_variant,p.Trp488Leu,ENST00000222115,NM_001523.3;HAS1,missense_variant,p.Trp495Leu,ENST00000601714,;HAS1,downstream_gene_variant,,ENST00000594621,;HAS1,downstream_gene_variant,,ENST00000601667,;SPACA6,downstream_gene_variant,,ENST00000573896,;	A	ENST00000222115	Transcript	missense_variant	1498/2087	1463/1737	488/578	W/L	tGg/tTg		1		-1	HAS1	HGNC	HGNC:4818	protein_coding	YES	CCDS12838.1	ENSP00000222115	Q92839		UPI000006D531	NM_001523.3	deleterious(0)		5/5		hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF4																	MODERATE	1	SNV	1			1										PASS		rs755563438	.												A	3	1	12	51713701	51713701	C	A	1	0	0	0	0	1	0	0	0	6847	595	21	2		2	HAS1	19	51713701	Missense_Mutation	SNP	C	C3L-00144_TP	67398	51713701	6903915	1596	5875											
ZNF577	0	.	GRCh38	chr19	51873535	51873535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtggtttccctcctgcaCaaattttttgtaggtcattg	7	17	8	9	0	1	0	1	0	0	0	3	0	3	0	2	2	1	3	2	2	2	6	rs766397069		C3L-00144_TP	C3L-00144_NB	C	C																c.455G>T	p.Cys152Phe	p.C152F	ENST00000301399	7/7	271	182	89	197	196	1	strelka-varscan-mutect	ZNF577,missense_variant,p.Cys152Phe,ENST00000301399,NM_032679.2;AC074141.1,splice_region_variant,,ENST00000451628,NM_001135590.1;	A	ENST00000301399	Transcript	missense_variant	846/3079	455/1458	152/485	C/F	tGt/tTt	rs766397069	1		-1	ZNF577	HGNC	HGNC:28673	protein_coding	YES	CCDS12842.2	ENSP00000301399	Q9BSK1	A0A024R4N6	UPI000059D778	NM_032679.2	tolerated(0.43)		7/7		hmmpanther:PTHR24377:SF327,hmmpanther:PTHR24377,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs766397069	.												A	3	1	12	51873535	51873535	C	A	1	0	0	0	0	1	0	0	0	18583	492	17	2		2	ZNF577	19	51873535	Missense_Mutation	SNP	C	C3L-00144_TP	159834	51873535	6744081	1597	5876											
ZNF649	0	.	GRCh38	chr19	51891874	51891874	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttgcaagggctgctgcaGatgatcatcagctttctcaa	9	13	10	9	0	3	2	3	1	1	1	4	2	3	2	0	1	4	6	0	1	2	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.262C>T	p.=	p.L88L	ENST00000354957	5/5	62	51	11	40	40	0	strelka-varscan-mutect	ZNF649,synonymous_variant,p.=,ENST00000354957,NM_023074.3;ZNF649,synonymous_variant,p.=,ENST00000600738,;ZNF577,upstream_gene_variant,,ENST00000301399,NM_032679.2;ZNF649,downstream_gene_variant,,ENST00000599530,;ZNF649,downstream_gene_variant,,ENST00000596690,;ZNF649,downstream_gene_variant,,ENST00000595418,;ZNF649-AS1,intron_variant,,ENST00000600329,;ZNF649,downstream_gene_variant,,ENST00000599671,;ZNF649,downstream_gene_variant,,ENST00000597882,;	A	ENST00000354957	Transcript	synonymous_variant	547/3197	262/1518	88/505	L	Ctg/Ttg		1		-1	ZNF649	HGNC	HGNC:25741	protein_coding	YES	CCDS12843.1	ENSP00000347043	Q9BS31		UPI000006D442	NM_023074.3			5/5		hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF34																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	51891874	51891874	G	A	1	0	0	0	0	0	0	0	1	18637	933	33	3		3	ZNF649	19	51891874	Silent	SNP	G	C3L-00144_TP	18339	51891874	6725742	1598	5877											
ZNF350	0	.	GRCh38	chr19	51965807	51965807	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttagccaagacttcttgaTgaaggctttcccacattcac	11	12	7	11	0	2	3	1	2	1	1	3	3	3	3	2	1	1	2	2	1	3	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.646A>C	p.Ile216Leu	p.I216L	ENST00000243644	5/5	283	197	86	215	215	0	strelka-varscan-mutect	ZNF350,missense_variant,p.Ile216Leu,ENST00000243644,NM_021632.3;ZNF350,downstream_gene_variant,,ENST00000601430,;ZNF350,downstream_gene_variant,,ENST00000594929,;ZNF350,downstream_gene_variant,,ENST00000597788,;ZNF350,downstream_gene_variant,,ENST00000593596,;ZNF350-AS1,intron_variant,,ENST00000595010,;ZNF350-AS1,intron_variant,,ENST00000600253,;ZNF350,downstream_gene_variant,,ENST00000600703,;ZNF350,downstream_gene_variant,,ENST00000598254,;	G	ENST00000243644	Transcript	missense_variant	874/2338	646/1599	216/532	I/L	Atc/Ctc		1		-1	ZNF350	HGNC	HGNC:16656	protein_coding	YES	CCDS12845.1	ENSP00000243644	Q9GZX5		UPI00000721F1	NM_021632.3	tolerated(0.4)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF11,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	51965807	51965807	T	G	1	0	0	0	0	1	0	0	0	18435	1464	51	5		5	ZNF350	19	51965807	Missense_Mutation	SNP	T	C3L-00144_TP	73933	51965807	6651809	1599	5878											
ZNF616	0	.	GRCh38	chr19	52114996	52114996	+	Missense_Mutation	SNP	C	C	A																															acaaccgcccaaaggctttgCcacattcaatacatttgtat																								rs761024812		C3L-00144_TP	C3L-00144_NB	C	C																c.2168G>T	p.Gly723Val	p.G723V	ENST00000600228	4/4	206	176	30	174	174	0	strelka-varscan-mutect	ZNF616,missense_variant,p.Gly723Val,ENST00000600228,NM_178523.3;ZNF616,3_prime_UTR_variant,,ENST00000330123,;ZNF616,downstream_gene_variant,,ENST00000596290,;CTC-471J1.10,upstream_gene_variant,,ENST00000603942,;	A	ENST00000600228	Transcript	missense_variant	2430/4335	2168/2346	723/781	G/V	gGc/gTc	rs761024812	1		-1	ZNF616	HGNC	HGNC:28062	protein_coding	YES	CCDS33090.1	ENSP00000471000	Q08AN1		UPI0000140D49	NM_178523.3	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF275,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs761024812	.												A	3	1	12	52114996	52114996	C	A	1	0	0	0	0	1	0	0	0	18616	739	26	2		2	ZNF616	19	52114996	Missense_Mutation	SNP	C	C3L-00144_TP	149189	52114996	6502620	1600	5879	134	2									
ZNF616	0	.	GRCh38	chr19	52114997	52114997	+	Missense_Mutation	SNP	C	C	T																															caaccgcccaaaggctttgcCacattcaatacatttgtatc																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2167G>A	p.Gly723Ser	p.G723S	ENST00000600228	4/4	207	176	31	175	175	0	strelka-varscan-mutect	ZNF616,missense_variant,p.Gly723Ser,ENST00000600228,NM_178523.3;ZNF616,3_prime_UTR_variant,,ENST00000330123,;ZNF616,downstream_gene_variant,,ENST00000596290,;CTC-471J1.10,upstream_gene_variant,,ENST00000603942,;	T	ENST00000600228	Transcript	missense_variant	2429/4335	2167/2346	723/781	G/S	Ggc/Agc		1		-1	ZNF616	HGNC	HGNC:28062	protein_coding	YES	CCDS33090.1	ENSP00000471000	Q08AN1		UPI0000140D49	NM_178523.3	deleterious(0.04)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF275,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	52114997	52114997	C	T	1	0	0	0	0	1	0	0	0	18616	594	21	3		3	ZNF616	19	52114997	Missense_Mutation	SNP	C	C3L-00144_TP	1	52114997	6502619	1601	5880	134	2									
PPP2R1A	0	.	GRCh38	chr19	52212988	52212988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcggtggaggcgtgcGtgaacatcgcccagcttctg	5	9	16	11	4	1	1	0	1	1	0	2	2	1	2	1	4	4	2	1	4	1	1			C3L-00144_TP	C3L-00144_NB	G	G																c.685G>A	p.Val229Met	p.V229M	ENST00000322088	6/15	96	64	32	70	70	0	strelka-varscan-mutect	PPP2R1A,missense_variant,p.Val229Met,ENST00000322088,NM_014225.5;PPP2R1A,missense_variant,p.Val50Met,ENST00000462990,;PPP2R1A,missense_variant,p.Val269Met,ENST00000454220,;PPP2R1A,downstream_gene_variant,,ENST00000473455,;PPP2R1A,downstream_gene_variant,,ENST00000495876,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000473820,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000462047,;PPP2R1A,downstream_gene_variant,,ENST00000468280,;PPP2R1A,downstream_gene_variant,,ENST00000490868,;	A	ENST00000322088	Transcript	missense_variant	743/5380	685/1770	229/589	V/M	Gtg/Atg	COSM371369,COSM5347055	1		1	PPP2R1A	HGNC	HGNC:9302	protein_coding	YES	CCDS12849.1	ENSP00000324804	P30153	A8K7B7	UPI000006EB9C	NM_014225.5	deleterious(0)		6/15		PROSITE_profiles:PS50077,hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF9,Gene3D:1.25.10.10,Pfam_domain:PF13646,Superfamily_domains:SSF48371											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	12	52212988	52212988	G	A	1	0	0	0	0	1	0	0	0	12505	1145	40	1		1	PPP2R1A	19	52212988	Missense_Mutation	SNP	G	C3L-00144_TP	97991	52212988	6404628	1602	5881											
ZNF880	0	.	GRCh38	chr19	52374509	52374509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctctgtcacccaggctgtCgtagagtggcaatcatcagt	8	11	11	11	1	4	1	3	0	1	1	5	1	4	1	1	2	1	4	1	2	2	1	rs187057167		C3L-00144_TP	C3L-00144_NB	C	C																c.350C>T	p.Ser117Leu	p.S117L	ENST00000597976	3/3	146	108	38	135	135	0	strelka-varscan-mutect	ZNF880,missense_variant,p.Ser117Leu,ENST00000597976,;ZNF880,synonymous_variant,p.=,ENST00000344085,;ZNF880,intron_variant,,ENST00000422689,NM_001145434.1;ZNF880,intron_variant,,ENST00000600321,;ZNF880,intron_variant,,ENST00000424032,;ZNF880,downstream_gene_variant,,ENST00000595099,;	T	ENST00000597976	Transcript	missense_variant	370/491	350/354	117/117	S/L	tCg/tTg	rs187057167	1		1	ZNF880	HGNC	HGNC:37249	protein_coding			ENSP00000471324		M0R0M5	UPI000015FCAB		deleterious_low_confidence(0.01)		3/3																			MODERATE		SNV	2			1										PASS		rs187057167	.												T	3	4	12	52374509	52374509	C	T	1	0	0	0	0	1	0	0	0	18789	893	31	1		1	ZNF880	19	52374509	Missense_Mutation	SNP	C	C3L-00144_TP	161521	52374509	6243107	1603	5882											
ZNF534	0	.	GRCh38	chr19	52438235	52438235	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagaattcacaccttgcaCaacatcagaaaattcatact	17	10	3	11	0	4	2	4	0	0	2	4	2	4	2	1	0	3	1	1	0	5	4	rs371740379		C3L-00144_TP	C3L-00144_NB	C	C																c.814C>G	p.Gln272Glu	p.Q272E	ENST00000332323	4/4	235	167	68	198	198	0	strelka-varscan-mutect	ZNF534,missense_variant,p.Gln272Glu,ENST00000332323,NM_001143939.1;ZNF534,missense_variant,p.Gln259Glu,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000617900,NM_001291368.1;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;	G	ENST00000332323	Transcript	missense_variant	875/2086	814/2025	272/674	Q/E	Caa/Gaa	rs371740379	1		1	ZNF534	HGNC	HGNC:26337	protein_coding	YES	CCDS46165.1	ENSP00000327538	Q76KX8		UPI0000351984	NM_001143939.1	tolerated(1)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF187,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs371740379	.												G	3	3	12	52438235	52438235	C	G	1	0	0	0	0	1	0	0	0	18546	479	17	4		4	ZNF534	19	52438235	Missense_Mutation	SNP	C	C3L-00144_TP	63726	52438235	6179381	1604	5883											
ZNF415	0	.	GRCh38	chr19	53109265	53109265	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaactctccaatgacgCgcaaggtttgatttttgact	10	14	9	8	2	1	4	0	4	1	0	2	4	1	4	1	1	1	3	1	1	4	4	rs142864555		C3L-00144_TP	C3L-00144_NB	C	C																c.780G>C	p.=	p.A260A	ENST00000500065	4/4	184	149	35	172	172	0	strelka-varscan-mutect	ZNF415,synonymous_variant,p.=,ENST00000500065,NM_001136038.2;ZNF415,synonymous_variant,p.=,ENST00000421033,NM_001164309.1;ZNF415,synonymous_variant,p.=,ENST00000243643,NM_018355.3;ZNF415,synonymous_variant,p.=,ENST00000601493,;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,downstream_gene_variant,,ENST00000601110,;ZNF415,downstream_gene_variant,,ENST00000595813,;ZNF415,downstream_gene_variant,,ENST00000601215,;ZNF415,downstream_gene_variant,,ENST00000595174,;ZNF415,downstream_gene_variant,,ENST00000595359,;ZNF415,downstream_gene_variant,,ENST00000602024,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;	G	ENST00000500065	Transcript	synonymous_variant	1114/2496	780/1668	260/555	A	gcG/gcC	rs142864555,COSM4080968	1		-1	ZNF415	HGNC	HGNC:20636	protein_coding	YES	CCDS54313.1	ENSP00000439435	Q09FC8		UPI0000E04BC1	NM_001136038.2			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF145,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,SMART_domains:SM00614,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667											0,1						LOW	1	SNV	4		0,1	1										PASS		rs142864555	.												G	2	3	12	53109265	53109265	C	G	1	0	0	0	0	0	0	0	1	18464	755	27	4		4	ZNF415	19	53109265	Silent	SNP	C	C3L-00144_TP	671030	53109265	5508351	1605	5884											
ZNF845	0	.	GRCh38	chr19	53352452	53352452	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtctttagtaatgctacaAccattgcaaatcattggaga	15	12	7	7	0	2	1	1	0	1	1	2	2	2	1	1	1	4	3	1	1	6	6	rs774098620		C3L-00144_TP	C3L-00144_NB	A	A																c.1777A>G	p.Thr593Ala	p.T593A	ENST00000458035	4/4	287	227	60	260	260	0	strelka-varscan-mutect	ZNF845,missense_variant,p.Thr593Ala,ENST00000458035,NM_138374.1;ZNF845,missense_variant,p.Thr593Ala,ENST00000595091,;ZNF525,intron_variant,,ENST00000635711,;ZNF845,downstream_gene_variant,,ENST00000601857,;	G	ENST00000458035	Transcript	missense_variant	1894/4311	1777/2913	593/970	T/A	Acc/Gcc	rs774098620	1		1	ZNF845	HGNC	HGNC:25112	protein_coding	YES	CCDS46170.1	ENSP00000388311	Q96IR2		UPI0001662BAC	NM_138374.1	tolerated(0.59)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	4			1										PASS		rs774098620	.												G	3	3	12	53352452	53352452	A	G	1	0	0	0	0	1	0	0	0	18779	43	2	5		5	ZNF845	19	53352452	Missense_Mutation	SNP	A	C3L-00144_TP	243187	53352452	5265164	1606	5885											
ZNF813	0	.	GRCh38	chr19	53491074	53491074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgtggcaagactttcaGtcagacgtattcccttacat	10	13	9	9	1	2	3	2	1	0	2	3	3	3	3	1	1	1	2	1	1	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.842G>T	p.Ser281Ile	p.S281I	ENST00000396403	4/4	327	230	97	279	278	1	strelka-varscan-mutect	ZNF813,missense_variant,p.Ser281Ile,ENST00000396403,NM_001004301.3;ZNF813,downstream_gene_variant,,ENST00000490956,;ZNF813,downstream_gene_variant,,ENST00000468450,;CTD-2224J9.4,upstream_gene_variant,,ENST00000483735,;	T	ENST00000396403	Transcript	missense_variant	970/6151	842/1854	281/617	S/I	aGt/aTt		1		1	ZNF813	HGNC	HGNC:33257	protein_coding	YES	CCDS46172.1	ENSP00000379684	Q6ZN06		UPI000040C511	NM_001004301.3	tolerated(0.17)		4/4		Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		.	.												T	3	4	12	53491074	53491074	G	T	1	0	0	0	0	1	0	0	0	18761	1029	36	2		2	ZNF813	19	53491074	Missense_Mutation	SNP	G	C3L-00144_TP	138622	53491074	5126542	1607	5886											
LILRB1	0	.	GRCh38	chr19	54633671	54633671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccagctccccgacaacagGccccacctccacatctggtg	8	5	7	21	1	1	0	0	0	1	0	3	1	3	0	8	2	2	1	8	2	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1295G>T	p.Gly432Val	p.G432V	ENST00000324602	8/15	112	84	28	77	77	0	strelka-varscan-mutect	LILRB1,missense_variant,p.Gly432Val,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Gly432Val,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Gly432Val,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Gly432Val,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Gly468Val,ENST00000427581,;LILRB1,missense_variant,p.Gly432Val,ENST00000396315,;LILRB1,intron_variant,,ENST00000396317,NM_001278398.2;AC009892.10,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,non_coding_transcript_exon_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Gly432Val,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;	T	ENST00000324602	Transcript	missense_variant	1460/2774	1295/1959	432/652	G/V	gGc/gTc		1		1	LILRB1	HGNC	HGNC:6605	protein_coding	YES	CCDS42614.1	ENSP00000315997		A0A087WSV6	UPI00034F23AA	NM_001081637.2	deleterious(0.04)		8/15		Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	12	54633671	54633671	G	T	1	0	0	0	0	1	0	0	0	8698	1203	42	2		2	LILRB1	19	54633671	Missense_Mutation	SNP	G	C3L-00144_TP	1142597	54633671	3983945	1608	5887											
LILRB1	0	.	GRCh38	chr19	54634657	54634657	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggtctgggaaggcacctGggggttgtgatcggcatctt	7	10	16	8	1	2	1	0	1	2	0	3	2	2	2	1	6	0	3	1	6	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1380G>T	p.=	p.L460L	ENST00000324602	10/15	154	127	27	90	90	0	strelka-varscan-mutect	LILRB1,synonymous_variant,p.=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.=,ENST00000427581,;LILRB1,synonymous_variant,p.=,ENST00000396315,;LILRB1,synonymous_variant,p.=,ENST00000396317,NM_001278398.2;AC009892.10,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,synonymous_variant,p.=,ENST00000421584,;LILRB1,non_coding_transcript_exon_variant,,ENST00000487425,;LILRB1,upstream_gene_variant,,ENST00000480375,;	T	ENST00000324602	Transcript	synonymous_variant	1545/2774	1380/1959	460/652	L	ctG/ctT		1		1	LILRB1	HGNC	HGNC:6605	protein_coding	YES	CCDS42614.1	ENSP00000315997		A0A087WSV6	UPI00034F23AA	NM_001081637.2			10/15		Low_complexity_(Seg):seg,hmmpanther:PTHR11738:SF117,hmmpanther:PTHR11738																	LOW		SNV	5			1										PASS		.	.												T	2	4	12	54634657	54634657	G	T	1	0	0	0	0	0	0	0	1	8698	1335	47	2		2	LILRB1	19	54634657	Silent	SNP	G	C3L-00144_TP	986	54634657	3982959	1609	5888											
LILRB4	0	.	GRCh38	chr19	54666721	54666721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtgaagaacacacagcCtgaggacggggtggaaatgg	12	5	16	8	2	0	3	0	2	0	1	0	5	0	5	2	5	3	0	2	5	3	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1013C>A	p.Pro338His	p.P338H	ENST00000391736	12/14	258	236	22	206	205	1	strelka-varscan-mutect	LILRB4,missense_variant,p.Pro338His,ENST00000391736,NM_001278426.3;LILRB4,missense_variant,p.Pro338His,ENST00000430952,NM_001278427.3;LILRB4,missense_variant,p.Pro339His,ENST00000391733,NM_001278429.3,NM_001278428.3;LILRB4,missense_variant,p.Pro338His,ENST00000391734,;LILRB4,missense_variant,p.Pro337His,ENST00000434286,;LILRB4,downstream_gene_variant,,ENST00000270452,;LILRB4,non_coding_transcript_exon_variant,,ENST00000461262,;LILRB4,3_prime_UTR_variant,,ENST00000494796,;LILRB4,non_coding_transcript_exon_variant,,ENST00000470943,;AC011515.2,upstream_gene_variant,,ENST00000441512,;	A	ENST00000391736	Transcript	missense_variant	1328/4002	1013/1347	338/448	P/H	cCt/cAt		1		1	LILRB4	HGNC	HGNC:6608	protein_coding	YES	CCDS12902.1	ENSP00000375616	Q8NHJ6		UPI0000034C02	NM_001278426.3	deleterious(0.02)		12/14																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	54666721	54666721	C	A	1	0	0	0	0	1	0	0	0	8701	681	24	2		2	LILRB4	19	54666721	Missense_Mutation	SNP	C	C3L-00144_TP	32064	54666721	3950895	1610	5889											
KIR3DL3	0	.	GRCh38	chr19	54727801	54727801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggtcaactattccatGggtcccatgacacctgccct	8	10	7	16	0	1	1	1	1	0	0	4	1	4	1	5	2	2	0	5	2	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.546G>T	p.Met182Ile	p.M182I	ENST00000291860	4/8	388	350	38	252	252	0	strelka-mutect	KIR3DL3,missense_variant,p.Met182Ile,ENST00000291860,NM_153443.4;CTB-61M7.1,intron_variant,,ENST00000400864,;	T	ENST00000291860	Transcript	missense_variant	564/1691	546/1233	182/410	M/I	atG/atT		1		1	KIR3DL3	HGNC	HGNC:16312	protein_coding	YES	CCDS12903.1	ENSP00000291860		A0A0B4J1R5	UPI00005056C3	NM_153443.4	tolerated(1)		4/8		hmmpanther:PTHR11738:SF91,hmmpanther:PTHR11738,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1230115617	.												T	3	4	12	54727801	54727801	G	T	1	0	0	0	0	1	0	0	0	8186	1348	47	2		2	KIR3DL3	19	54727801	Missense_Mutation	SNP	G	C3L-00144_TP	61080	54727801	3889815	1611	5890											
KIR2DL4	0	.	GRCh38	chr19	54805057	54805057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggtcggcacccagcaaccCcctggtgatcatggtcacag	8	7	12	14	1	2	1	2	1	0	0	3	1	2	1	3	4	2	2	3	4	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.341C>A	p.Pro114His	p.P114H	ENST00000345540	3/7	81	71	10	70	70	0	strelka-varscan-mutect	KIR2DL4,missense_variant,p.Pro153His,ENST00000396284,;KIR2DL4,missense_variant,p.Pro113His,ENST00000396289,;KIR2DL4,missense_variant,p.Pro114His,ENST00000359085,NM_001080772.1;KIR2DL4,missense_variant,p.Pro114His,ENST00000345540,NM_001080770.1;KIR2DL4,missense_variant,p.Pro114His,ENST00000357494,;KIR2DL4,intron_variant,,ENST00000346587,;KIR2DL4,intron_variant,,ENST00000396293,;KIR2DL4,non_coding_transcript_exon_variant,,ENST00000463062,;KIR2DL4,non_coding_transcript_exon_variant,,ENST00000486965,;	A	ENST00000345540	Transcript	missense_variant	353/1447	341/1029	114/342	P/H	cCc/cAc		1		1	KIR2DL4	HGNC	HGNC:6332	protein_coding	YES	CCDS42619.1	ENSP00000339634	Q99706		UPI000013E082	NM_001080770.1	deleterious(0)		3/7		Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF91,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	54805057	54805057	C	A	1	0	0	0	0	1	0	0	0	8183	623	22	2		2	KIR2DL4	19	54805057	Missense_Mutation	SNP	C	C3L-00144_TP	77256	54805057	3812559	1612	5891											
EPS8L1	0	.	GRCh38	chr19	55081390	55081390	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgaggcagaggaggcgcaGaggcctgagccggtggggac	8	2	20	11	3	0	3	0	1	0	2	0	6	0	5	3	7	1	2	3	7	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.672G>C	p.Gln224His	p.Q224H	ENST00000201647	8/20	255	219	36	191	191	0	strelka-varscan-mutect	EPS8L1,missense_variant,p.Gln224His,ENST00000201647,NM_133180.2;EPS8L1,missense_variant,p.Gln160His,ENST00000540810,;EPS8L1,missense_variant,p.Gln97His,ENST00000245618,NM_017729.3;EPS8L1,missense_variant,p.Gln206His,ENST00000586329,;EPS8L1,intron_variant,,ENST00000588359,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592824,;EPS8L1,upstream_gene_variant,,ENST00000585347,;EPS8L1,missense_variant,p.Gln186His,ENST00000587786,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000590232,;EPS8L1,upstream_gene_variant,,ENST00000592102,;EPS8L1,upstream_gene_variant,,ENST00000589362,;EPS8L1,upstream_gene_variant,,ENST00000592284,;EPS8L1,downstream_gene_variant,,ENST00000591219,;EPS8L1,upstream_gene_variant,,ENST00000590610,;EPS8L1,downstream_gene_variant,,ENST00000592044,;EPS8L1,upstream_gene_variant,,ENST00000589694,;EPS8L1,downstream_gene_variant,,ENST00000592318,;	C	ENST00000201647	Transcript	missense_variant	728/2536	672/2172	224/723	Q/H	caG/caC		1		1	EPS8L1	HGNC	HGNC:21295	protein_coding	YES	CCDS12914.1	ENSP00000201647	Q8TE68		UPI000013C630	NM_133180.2	tolerated(0.54)		8/20		hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	55081390	55081390	G	C	1	0	0	0	0	1	0	0	0	5043	933	33	4		4	EPS8L1	19	55081390	Missense_Mutation	SNP	G	C3L-00144_TP	276333	55081390	3536226	1613	5892											
SBK2	0	.	GRCh38	chr19	55529809	55529809	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccaggggcgccccaggTgctccctgatggcgatcaca	6	6	13	16	2	1	1	1	1	0	0	3	2	3	1	5	4	1	1	5	4	0	0	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.971A>T	p.His324Leu	p.H324L	ENST00000413299	4/4	268	189	79	242	242	0	strelka-varscan-mutect	SBK2,missense_variant,p.His324Leu,ENST00000413299,NM_001101401.2;SBK2,missense_variant,p.His324Leu,ENST00000344158,;	A	ENST00000413299	Transcript	missense_variant	1009/1085	971/1047	324/348	H/L	cAc/cTc		1		-1	SBK2	HGNC	HGNC:34416	protein_coding	YES	CCDS42631.1	ENSP00000389015	P0C263		UPI00015DFA43	NM_001101401.2	deleterious(0)		4/4		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	55529809	55529809	T	A	1	0	0	0	0	1	0	0	0	14125	1696	59	4		4	SBK2	19	55529809	Missense_Mutation	SNP	T	C3L-00144_TP	448419	55529809	3087807	1614	5893											
ZNF579	0	.	GRCh38	chr19	55579109	55579109	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagccagcgtggaaggctcCcccgcaggccacgtctcagg	7	4	14	16	3	1	0	1	0	1	0	3	1	2	1	4	4	2	3	4	4	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.531G>T	p.=	p.G177G	ENST00000325421	2/2	326	248	78	251	250	1	strelka-varscan-mutect	ZNF579,synonymous_variant,p.=,ENST00000325421,NM_152600.2;ZNF579,downstream_gene_variant,,ENST00000592239,;	A	ENST00000325421	Transcript	synonymous_variant	560/2899	531/1689	177/562	G	ggG/ggT		1		-1	ZNF579	HGNC	HGNC:26646	protein_coding	YES	CCDS12927.1	ENSP00000320188	Q8NAF0		UPI0000141657	NM_152600.2			2/2																			LOW	1	SNV	2			1										PASS		.	.												A	2	1	12	55579109	55579109	C	A	1	0	0	0	0	0	0	0	1	18585	610	22	2		2	ZNF579	19	55579109	Silent	SNP	C	C3L-00144_TP	49300	55579109	3038507	1615	5894											
NLRP9	0	.	GRCh38	chr19	55715166	55715166	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagggacagggacttactgCacaagaggacttcggaaatg	13	6	15	7	1	0	1	0	0	0	1	1	6	0	6	0	5	2	1	0	5	3	2	rs761525281		C3L-00144_TP	C3L-00144_NB	C	C																c.2390G>T	p.Cys797Phe	p.C797F	ENST00000332836	6/9	227	210	17	147	147	0	strelka-varscan-mutect	NLRP9,missense_variant,p.Cys797Phe,ENST00000332836,NM_176820.3;NLRP9,missense_variant,p.Cys797Phe,ENST00000590200,;	A	ENST00000332836	Transcript	missense_variant	2418/3484	2390/2976	797/991	C/F	tGc/tTc	rs761525281	1		-1	NLRP9	HGNC	HGNC:22941	protein_coding	YES	CCDS12934.1	ENSP00000331857	Q7RTR0		UPI00001B6B39	NM_176820.3	tolerated(0.68)		6/9		Low_complexity_(Seg):seg,hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		rs761525281	.												A	3	1	12	55715166	55715166	C	A	1	0	0	0	0	1	0	0	0	10522	710	25	2		2	NLRP9	19	55715166	Missense_Mutation	SNP	C	C3L-00144_TP	136057	55715166	2902450	1616	5895											
NLRP9	0	.	GRCh38	chr19	55733200	55733200	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatgtcttcgatcttctCtgaagactccggccagtccc	10	11	7	13	2	3	2	0	1	3	1	7	3	5	2	3	1	0	0	3	1	3	2	rs150929335		C3L-00144_TP	C3L-00144_NB	C	C																c.631G>T	p.Glu211Ter	p.E211*	ENST00000332836	2/9	141	97	44	95	95	0	strelka-varscan-mutect	NLRP9,stop_gained,p.Glu211Ter,ENST00000332836,NM_176820.3;NLRP9,stop_gained,p.Glu211Ter,ENST00000590200,;RN7SKP109,upstream_gene_variant,,ENST00000410592,;	A	ENST00000332836	Transcript	stop_gained	659/3484	631/2976	211/991	E/*	Gag/Tag	rs150929335	1		-1	NLRP9	HGNC	HGNC:22941	protein_coding	YES	CCDS12934.1	ENSP00000331857	Q7RTR0		UPI00001B6B39	NM_176820.3			2/9		PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Gene3D:3.40.50.300,Pfam_domain:PF05729,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		rs150929335	.												A	4	1	12	55733200	55733200	C	A	1	0	0	0	0	0	1	0	0	10522	922	32	2		2	NLRP9	19	55733200	Nonsense_Mutation	SNP	C	C3L-00144_TP	18034	55733200	2884416	1617	5896											
NLRP11	0	.	GRCh38	chr19	55809722	55809722	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattcgacagctgcaaggtCgtgcagcaatctacctcttt	9	11	8	13	2	2	0	0	0	2	0	4	1	2	0	2	1	5	4	2	1	3	3	rs745959992		C3L-00144_TP	C3L-00144_NB	C	C																c.888G>T	p.=	p.T296T	ENST00000589093	3/10	204	186	18	128	128	0	strelka-varscan-mutect	NLRP11,synonymous_variant,p.=,ENST00000589093,NM_145007.3;NLRP11,synonymous_variant,p.=,ENST00000589824,;NLRP11,synonymous_variant,p.=,ENST00000592953,NM_001297743.1;NLRP11,downstream_gene_variant,,ENST00000593208,;NLRP11,synonymous_variant,p.=,ENST00000590409,;NLRP11,synonymous_variant,p.=,ENST00000593244,;	A	ENST00000589093	Transcript	synonymous_variant	982/3417	888/3102	296/1033	T	acG/acT	rs745959992	1		-1	NLRP11	HGNC	HGNC:22945	protein_coding	YES	CCDS12935.1	ENSP00000466285	P59045		UPI000013ED9D	NM_145007.3			3/10		hmmpanther:PTHR24106:SF62,hmmpanther:PTHR24106,Pfam_domain:PF05729																	LOW	1	SNV	1			1										PASS		rs745959992	.												A	2	1	12	55809722	55809722	C	A	1	0	0	0	0	0	0	0	1	10510	871	31	1		1	NLRP11	19	55809722	Silent	SNP	C	C3L-00144_TP	76522	55809722	2807894	1618	5897											
NLRP8	0	.	GRCh38	chr19	55948089	55948089	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcagctcttactgactGagctcagtactggcaccatg	10	10	9	12	0	3	2	2	2	1	0	3	2	3	2	1	1	5	5	1	1	3	2	rs200578165		C3L-00144_TP	C3L-00144_NB	G	G																c.187G>T	p.Glu63Ter	p.E63*	ENST00000291971	1/10	188	161	27	181	181	0	strelka-varscan-mutect	NLRP8,stop_gained,p.Glu63Ter,ENST00000291971,NM_176811.2;NLRP8,stop_gained,p.Glu63Ter,ENST00000590542,;	T	ENST00000291971	Transcript	stop_gained	258/3934	187/3147	63/1048	E/*	Gag/Tag	rs200578165	1		1	NLRP8	HGNC	HGNC:22940	protein_coding	YES	CCDS12937.1	ENSP00000291971	Q86W28		UPI00001BB3C9	NM_176811.2			1/10		PROSITE_profiles:PS50824,hmmpanther:PTHR24106:SF54,hmmpanther:PTHR24106,Gene3D:1.10.533.10,Pfam_domain:PF02758,SMART_domains:SM01289,Superfamily_domains:SSF47986																	HIGH	1	SNV	2			1										PASS		rs200578165	.												T	4	4	12	55948089	55948089	G	T	1	0	0	0	0	0	1	0	0	10521	1291	45	2		2	NLRP8	19	55948089	Nonsense_Mutation	SNP	G	C3L-00144_TP	138367	55948089	2669527	1619	5898											
NLRP8	0	.	GRCh38	chr19	55955400	55955400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttccagaaagatccacCaagcacaactggaaggtctg	14	8	8	11	0	1	2	0	0	1	2	3	3	3	3	3	2	2	1	3	2	4	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1342C>A	p.Gln448Lys	p.Q448K	ENST00000291971	3/10	238	167	71	216	216	0	strelka-varscan-mutect	NLRP8,missense_variant,p.Gln448Lys,ENST00000291971,NM_176811.2;NLRP8,missense_variant,p.Gln448Lys,ENST00000590542,;	A	ENST00000291971	Transcript	missense_variant	1413/3934	1342/3147	448/1048	Q/K	Caa/Aaa		1		1	NLRP8	HGNC	HGNC:22940	protein_coding	YES	CCDS12937.1	ENSP00000291971	Q86W28		UPI00001BB3C9	NM_176811.2	deleterious(0.02)		3/10		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF54																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	55955400	55955400	C	A	1	0	0	0	0	1	0	0	0	10521	595	21	2		2	NLRP8	19	55955400	Missense_Mutation	SNP	C	C3L-00144_TP	7311	55955400	2662216	1620	5899											
NLRP5	0	.	GRCh38	chr19	56015797	56015797	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgcagagacaaaagaacaAggtgaatgaaatagatctat	19	7	10	5	0	1	5	0	2	1	3	1	6	1	5	0	1	2	2	0	1	8	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.564A>T	p.Gln188His	p.Q188H	ENST00000390649	4/15	109	96	13	79	79	0	strelka-varscan-mutect	NLRP5,missense_variant,p.Gln188His,ENST00000390649,NM_153447.4;NLRP5,intron_variant,,ENST00000621651,;NLRP5,missense_variant,p.Gln161His,ENST00000597673,;	T	ENST00000390649	Transcript	missense_variant,splice_region_variant	564/3888	564/3603	188/1200	Q/H	caA/caT		1		1	NLRP5	HGNC	HGNC:21269	protein_coding	YES	CCDS12938.1	ENSP00000375063	P59047		UPI00001AEEBD	NM_153447.4	tolerated(0.11)		4/15																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	56015797	56015797	A	T	1	0	0	0	0	1	0	0	0	10518	86	3	4		4	NLRP5	19	56015797	Missense_Mutation	SNP	A	C3L-00144_TP	60397	56015797	2601819	1621	5900											
NLRP5	0	.	GRCh38	chr19	56033681	56033681	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtgtgaagccttaaaaCacccaaaatgtttgttggag	12	11	11	7	1	0	1	0	1	0	0	0	2	0	2	2	2	2	2	2	2	5	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2587C>A	p.His863Asn	p.H863N	ENST00000390649	9/15	100	87	13	83	83	0	strelka-varscan-mutect	NLRP5,missense_variant,p.His863Asn,ENST00000390649,NM_153447.4;NLRP5,missense_variant,p.His863Asn,ENST00000621651,;	A	ENST00000390649	Transcript	missense_variant	2587/3888	2587/3603	863/1200	H/N	Cac/Aac		1		1	NLRP5	HGNC	HGNC:21269	protein_coding	YES	CCDS12938.1	ENSP00000375063	P59047		UPI00001AEEBD	NM_153447.4	deleterious(0.04)		9/15		hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	56033681	56033681	C	A	1	0	0	0	0	1	0	0	0	10518	478	17	2		2	NLRP5	19	56033681	Missense_Mutation	SNP	C	C3L-00144_TP	17884	56033681	2583935	1622	5901											
GALP	0	.	GRCh38	chr19	56183203	56183203	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagacgtttgccaaaccaGagattggaggtaaagccagg	13	7	14	7	1	0	2	0	0	0	2	0	5	0	3	3	4	3	2	3	4	3	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.286G>T	p.Glu96Ter	p.E96*	ENST00000357330	5/6	269	250	19	188	188	0	strelka-varscan-mutect	GALP,stop_gained,p.Glu96Ter,ENST00000357330,NM_033106.3;GALP,3_prime_UTR_variant,,ENST00000440823,NM_001145546.1;GALP,downstream_gene_variant,,ENST00000590002,;	T	ENST00000357330	Transcript	stop_gained	368/938	286/351	96/116	E/*	Gag/Tag		1		1	GALP	HGNC	HGNC:24840	protein_coding	YES	CCDS12940.1	ENSP00000349884	Q9UBC7		UPI0000039C09	NM_033106.3			5/6		hmmpanther:PTHR20950,hmmpanther:PTHR20950:SF1																	HIGH	1	SNV	1			1										PASS		rs1173168886	.												T	4	4	12	56183203	56183203	G	T	1	0	0	0	0	0	1	0	0	6094	943	33	2		2	GALP	19	56183203	Nonsense_Mutation	SNP	G	C3L-00144_TP	149522	56183203	2434413	1623	5902											
ZSCAN5CP	0	.	GRCh38	chr19	56208514	56208514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctgtggaaaatgtggatGctgacacaccttctgcctgc	8	11	10	12	0	2	1	0	1	2	0	2	3	2	3	3	2	3	1	3	2	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.805G>C	p.Ala269Pro	p.A269P	ENST00000534327	5/5	190	171	19	154	153	1	varscan-mutect	ZSCAN5CP,missense_variant,p.Ala269Pro,ENST00000534327,;ZSCAN5CP,missense_variant,p.Ala269Pro,ENST00000376267,;	C	ENST00000534327	Transcript	missense_variant	954/1892	805/1491	269/496	A/P	Gct/Cct		1		1	ZSCAN5CP	HGNC	HGNC:34294	protein_coding	YES		ENSP00000435234	A6NGD5		UPI000041AA91		deleterious(0.01)		5/5		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF223																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	12	56208514	56208514	G	C	1	0	0	0	0	1	0	0	0	18839	1319	46	4		4	ZSCAN5CP	19	56208514	Missense_Mutation	SNP	G	C3L-00144_TP	25311	56208514	2409102	1624	5903											
ZNF667	0	.	GRCh38	chr19	56442256	56442256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacattcccaacaacatGaattttctgatgtatattga	14	13	6	8	0	1	4	0	3	1	1	2	4	2	4	1	0	2	2	1	0	5	6	rs750443644		C3L-00144_TP	C3L-00144_NB	G	G																c.739C>A	p.His247Asn	p.H247N	ENST00000504904	7/7	215	203	12	162	161	1	strelka-varscan-mutect	ZNF667,missense_variant,p.His247Asn,ENST00000504904,NM_001321356.1;ZNF667,missense_variant,p.His247Asn,ENST00000292069,NM_022103.3;ZNF667,missense_variant,p.His29Asn,ENST00000629654,;ZNF667,3_prime_UTR_variant,,ENST00000591790,;ZNF667,downstream_gene_variant,,ENST00000587555,;ZNF667,3_prime_UTR_variant,,ENST00000592189,NM_001321355.1;	T	ENST00000504904	Transcript	missense_variant	1459/4390	739/1833	247/610	H/N	Cat/Aat	rs750443644,COSM1001870,COSM3540030,COSM3540031,COSM4870267	1		-1	ZNF667	HGNC	HGNC:28854	protein_coding	YES	CCDS12944.1	ENSP00000439402	Q5HYK9		UPI0000202CEE	NM_001321356.1	deleterious(0.03)		7/7		hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF46,SMART_domains:SM00355											0,1,1,1,1						MODERATE	1	SNV	2		0,1,1,1,1	1										PASS		rs750443644	.												T	3	4	12	56442256	56442256	G	T	1	0	0	0	0	1	0	0	0	18648	1290	45	2		2	ZNF667	19	56442256	Missense_Mutation	SNP	G	C3L-00144_TP	233742	56442256	2175360	1625	5904											
ZNF835	0	.	GRCh38	chr19	56665036	56665036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggattcggctgaattcatCgcgttcctgcatgctgtccc	5	13	11	12	3	1	1	1	1	0	0	5	2	3	2	2	2	2	4	2	2	1	3			C3L-00144_TP	C3L-00144_NB	C	C																c.163G>T	p.Asp55Tyr	p.D55Y	ENST00000537055	2/2	515	364	151	471	470	1	strelka-varscan-mutect	ZNF835,missense_variant,p.Asp55Tyr,ENST00000537055,NM_001005850.2;ZNF835,missense_variant,p.Asp55Tyr,ENST00000601659,;	A	ENST00000537055	Transcript	missense_variant	395/3450	163/1614	55/537	D/Y	Gat/Tat	COSM1001961	1		-1	ZNF835	HGNC	HGNC:34332	protein_coding	YES	CCDS56105.1	ENSP00000444747	Q9Y2P0		UPI0000EE7244	NM_001005850.2	deleterious(0.02)		2/2		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF368											1						MODERATE	1	SNV	2		1	1										PASS		rs980585605	.												A	3	1	12	56665036	56665036	C	A	1	0	0	0	0	1	0	0	0	18771	884	31	1		1	ZNF835	19	56665036	Missense_Mutation	SNP	C	C3L-00144_TP	222780	56665036	1952580	1626	5905											
ZIM2	0	.	GRCh38	chr19	56779434	56779434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcatatgattcctcctcttCcaggcgtgagataatgtcag	9	13	9	10	1	2	2	1	2	1	1	5	3	5	2	3	1	1	1	3	1	2	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.685G>A	p.Glu229Lys	p.E229K	ENST00000629319	11/12	241	223	18	187	186	1	strelka-varscan-mutect	ZIM2,missense_variant,p.Glu229Lys,ENST00000629319,NM_001146326.1,NM_001146327.1;ZIM2,missense_variant,p.Glu229Lys,ENST00000599935,;ZIM2,missense_variant,p.Glu229Lys,ENST00000593711,NM_015363.4;ZIM2,missense_variant,p.Glu229Lys,ENST00000601070,;ZIM2-AS1,intron_variant,,ENST00000595954,;ZIM2-AS1,intron_variant,,ENST00000594400,;ZIM2-AS1,intron_variant,,ENST00000597946,;ZIM2,3_prime_UTR_variant,,ENST00000595671,;ZIM2,3_prime_UTR_variant,,ENST00000597281,;ZIM2,non_coding_transcript_exon_variant,,ENST00000596270,;	T	ENST00000629319	Transcript	missense_variant	1228/2253	685/1584	229/527	E/K	Gaa/Aaa		1		-1	ZIM2	HGNC	HGNC:12875	protein_coding	YES	CCDS33123.1	ENSP00000486502	Q9NZV7	A0A024R4S8	UPI000013C3DF	NM_001146326.1,NM_001146327.1	deleterious(0.01)		11/12		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF354,SMART_domains:SM00349,Superfamily_domains:0044637																	MODERATE		SNV	5			1										PASS		rs1309297904	.												T	3	4	12	56779434	56779434	C	T	1	0	0	0	0	1	0	0	0	18262	864	30	3		3	ZIM2	19	56779434	Missense_Mutation	SNP	C	C3L-00144_TP	114398	56779434	1838182	1627	5906											
PEG3	0	.	GRCh38	chr19	56814508	56814508	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgagtataggaggaccCgtactcatagggctcattct	9	11	13	8	1	3	1	2	1	1	0	3	3	3	3	1	4	1	3	1	4	4	5	rs752946677		C3L-00144_TP	C3L-00144_NB	C	C																c.3934G>T	p.Gly1312Trp	p.G1312W	ENST00000326441	10/10	102	94	8	97	97	0	strelka-varscan-mutect	PEG3,missense_variant,p.Gly1312Trp,ENST00000326441,NM_001146186.1,NM_001146184.1,NM_006210.2;PEG3,missense_variant,p.Gly1188Trp,ENST00000598410,NM_001146187.1;PEG3,missense_variant,p.Gly1312Trp,ENST00000599534,;PEG3,missense_variant,p.Gly1312Trp,ENST00000599577,;PEG3,missense_variant,p.Gly1186Trp,ENST00000593695,NM_001146185.1;ZIM2,intron_variant,,ENST00000629319,NM_001146326.1,NM_001146327.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000593711,NM_015363.4;ZIM2,intron_variant,,ENST00000601070,;PEG3,downstream_gene_variant,,ENST00000600833,;PEG3,upstream_gene_variant,,ENST00000599565,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	A	ENST00000326441	Transcript	missense_variant	4298/8723	3934/4767	1312/1588	G/W	Ggg/Tgg	rs752946677	1		-1	PEG3	HGNC	HGNC:8826	protein_coding	YES	CCDS12948.1	ENSP00000326581	Q9GZU2		UPI000006D36D	NM_001146186.1,NM_001146184.1,NM_006210.2	deleterious(0)		10/10																			MODERATE	1	SNV	1			1										PASS		rs752946677	.												A	3	1	12	56814508	56814508	C	A	1	0	0	0	0	1	0	0	0	11808	652	23	1		1	PEG3	19	56814508	Missense_Mutation	SNP	C	C3L-00144_TP	35074	56814508	1803108	1628	5907											
PEG3	0	.	GRCh38	chr19	56816975	56816975	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttcactgacagccacActgtggataaaggactcacc	13	8	8	12	0	2	2	2	2	0	0	2	4	2	4	2	2	2	0	2	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1467T>C	p.=	p.S489S	ENST00000326441	10/10	225	201	24	204	204	0	strelka-varscan-mutect	PEG3,synonymous_variant,p.=,ENST00000326441,NM_001146186.1,NM_001146184.1,NM_006210.2;PEG3,synonymous_variant,p.=,ENST00000598410,NM_001146187.1;PEG3,synonymous_variant,p.=,ENST00000599534,;PEG3,synonymous_variant,p.=,ENST00000599577,;PEG3,synonymous_variant,p.=,ENST00000593695,NM_001146185.1;PEG3,synonymous_variant,p.=,ENST00000600833,;ZIM2,intron_variant,,ENST00000629319,NM_001146326.1,NM_001146327.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000593711,NM_015363.4;ZIM2,intron_variant,,ENST00000601070,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	G	ENST00000326441	Transcript	synonymous_variant	1831/8723	1467/4767	489/1588	S	agT/agC		1		-1	PEG3	HGNC	HGNC:8826	protein_coding	YES	CCDS12948.1	ENSP00000326581	Q9GZU2		UPI000006D36D	NM_001146186.1,NM_001146184.1,NM_006210.2			10/10		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	56816975	56816975	A	G	1	0	0	0	0	0	0	0	1	11808	156	6	5		5	PEG3	19	56816975	Silent	SNP	A	C3L-00144_TP	2467	56816975	1800641	1629	5908											
ZIM3	0	.	GRCh38	chr19	57134978	57134978	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacctgtcagcgaaggctttAccgcattcagaacatccata	12	9	8	12	2	2	1	2	0	0	1	3	3	3	1	3	1	3	2	3	1	4	4	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1359T>A	p.=	p.G453G	ENST00000269834	5/5	175	159	16	165	165	0	strelka-varscan-mutect	ZIM3,synonymous_variant,p.=,ENST00000269834,NM_052882.1;USP29,downstream_gene_variant,,ENST00000254181,NM_020903.2;USP29,downstream_gene_variant,,ENST00000598197,;	T	ENST00000269834	Transcript	synonymous_variant	1745/2627	1359/1419	453/472	G	ggT/ggA		1		-1	ZIM3	HGNC	HGNC:16366	protein_coding	YES	CCDS33125.1	ENSP00000269834	Q96PE6		UPI000013C3E0	NM_052882.1			5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF30,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	57134978	57134978	A	T	1	0	0	0	0	0	0	0	1	18263	378	14	4		4	ZIM3	19	57134978	Silent	SNP	A	C3L-00144_TP	318003	57134978	1482638	1630	5909											
ZIK1	0	.	GRCh38	chr19	57590169	57590169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctagctgatctccctGggcagaaaccatacttggtt	9	12	9	11	0	2	2	0	1	2	1	3	2	2	2	2	2	4	4	2	2	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.358G>T	p.Gly120Trp	p.G120W	ENST00000597850	4/4	310	210	100	225	224	1	strelka-varscan-mutect	ZIK1,missense_variant,p.Gly120Trp,ENST00000597850,NM_001010879.2;ZIK1,missense_variant,p.Gly107Trp,ENST00000536878,NM_001321145.1;ZIK1,missense_variant,p.Gly65Trp,ENST00000599456,;ZIK1,missense_variant,p.Gly101Trp,ENST00000600053,;ZIK1,missense_variant,p.Gly93Trp,ENST00000598689,;ZIK1,3_prime_UTR_variant,,ENST00000307468,;ZIK1,downstream_gene_variant,,ENST00000597219,;ZIK1,downstream_gene_variant,,ENST00000598726,;	T	ENST00000597850	Transcript	missense_variant	573/4181	358/1464	120/487	G/W	Ggg/Tgg		1		1	ZIK1	HGNC	HGNC:33104	protein_coding	YES	CCDS33135.1	ENSP00000472867	Q3SY52		UPI00001609B2	NM_001010879.2	deleterious(0.04)		4/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF219																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	57590169	57590169	G	T	1	0	0	0	0	1	0	0	0	18261	1348	47	2		2	ZIK1	19	57590169	Missense_Mutation	SNP	G	C3L-00144_TP	455191	57590169	1027447	1631	5910											
ZNF530	0	.	GRCh38	chr19	57606038	57606038	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaaaacccttcacgtttggGgaagtcgggagggacttttc	9	10	14	8	2	1	0	1	0	0	0	3	4	1	4	1	5	1	1	1	5	3	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.513G>T	p.=	p.G171G	ENST00000332854	3/3	216	188	28	223	222	1	strelka-varscan-mutect	ZNF530,synonymous_variant,p.=,ENST00000332854,NM_020880.3;ZNF530,intron_variant,,ENST00000597864,;ZNF530,downstream_gene_variant,,ENST00000597700,;ZNF530,synonymous_variant,p.=,ENST00000600619,;ZNF530,non_coding_transcript_exon_variant,,ENST00000598297,;	T	ENST00000332854	Transcript	synonymous_variant	733/2962	513/1800	171/599	G	ggG/ggT		1		1	ZNF530	HGNC	HGNC:29297	protein_coding	YES	CCDS12955.1	ENSP00000332861	Q6P9A1		UPI0000199017	NM_020880.3			3/3																			LOW	1	SNV	1			1										PASS		rs1215933782	.												T	2	4	12	57606038	57606038	G	T	1	0	0	0	0	0	0	0	1	18544	1219	43	2		2	ZNF530	19	57606038	Silent	SNP	G	C3L-00144_TP	15869	57606038	1011578	1632	5911											
ZNF154	0	.	GRCh38	chr19	57702577	57702577	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcctctgtgactgatGgccccaccgtcgcttttgct	3	16	9	13	2	1	2	0	2	1	0	3	2	2	2	4	1	1	3	4	1	0	4	rs201612246		C3L-00144_TP	C3L-00144_NB	G	G																c.372C>G	p.=	p.A124A	ENST00000512439	3/4	212	157	55	190	190	0	strelka-varscan-mutect	ZNF154,synonymous_variant,p.=,ENST00000512439,NM_001085384.2;AC003006.7,intron_variant,,ENST00000594684,;ZNF551,intron_variant,,ENST00000596085,;AC003006.7,intron_variant,,ENST00000599221,;ZNF154,synonymous_variant,p.=,ENST00000451275,;	C	ENST00000512439	Transcript	synonymous_variant	569/5687	372/1314	124/437	A	gcC/gcG	rs201612246	1		-1	ZNF154	HGNC	HGNC:12939	protein_coding	YES	CCDS42639.1	ENSP00000421258	Q13106	A0A024R4Q0	UPI00001D819A	NM_001085384.2			3/4		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF75																	LOW	1	SNV	1			1										PASS		rs201612246	.												C	2	2	12	57702577	57702577	G	C	1	0	0	0	0	0	0	0	1	18316	1335	47	4		4	ZNF154	19	57702577	Silent	SNP	G	C3L-00144_TP	96539	57702577	915039	1633	5912											
ZNF552	0	.	GRCh38	chr19	57808396	57808396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatggcttctctccagtgtGaattctctggtgtacaagga	9	14	10	8	0	2	1	0	1	2	0	5	2	3	2	1	3	1	2	1	3	4	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.868C>A	p.His290Asn	p.H290N	ENST00000391701	3/3	87	78	9	68	68	0	strelka-varscan-mutect	ZNF552,missense_variant,p.His290Asn,ENST00000391701,NM_024762.3;ZNF586,intron_variant,,ENST00000599802,;ZNF586,intron_variant,,ENST00000598885,;ZNF552,intron_variant,,ENST00000594473,;ZNF552,3_prime_UTR_variant,,ENST00000596248,;ZNF552,downstream_gene_variant,,ENST00000600397,;	T	ENST00000391701	Transcript	missense_variant	1038/2352	868/1224	290/407	H/N	Cac/Aac		1		-1	ZNF552	HGNC	HGNC:26135	protein_coding	YES	CCDS12963.1	ENSP00000375582	Q9H707		UPI0000202D72	NM_024762.3	deleterious(0)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF209,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	57808396	57808396	G	T	1	0	0	0	0	1	0	0	0	18558	1290	45	2		2	ZNF552	19	57808396	Missense_Mutation	SNP	G	C3L-00144_TP	105819	57808396	809220	1634	5913											
ZNF135	0	.	GRCh38	chr19	58063493	58063493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctccctgctggagcaagagGcagagctgtgggcggtggag	7	7	18	9	1	1	2	0	0	1	2	2	4	1	4	1	5	3	4	1	5	1	0	rs778065252		C3L-00144_TP	C3L-00144_NB	G	G																c.244G>T	p.Ala82Ser	p.A82S	ENST00000401053	3/4	440	404	36	322	322	0	strelka-varscan-mutect	ZNF135,missense_variant,p.Ala28Ser,ENST00000506786,NM_001289402.1;ZNF135,missense_variant,p.Ala82Ser,ENST00000401053,NM_001164529.1,NM_007134.1;ZNF135,missense_variant,p.Ala70Ser,ENST00000313434,NM_001289401.1;ZNF135,missense_variant,p.Ala70Ser,ENST00000511556,NM_003436.3;ZNF135,missense_variant,p.Ala82Ser,ENST00000359978,NM_001164530.1;ZNF135,intron_variant,,ENST00000515535,;	T	ENST00000401053	Transcript	missense_variant	247/3346	244/2049	82/682	A/S	Gca/Tca	rs778065252	1		1	ZNF135	HGNC	HGNC:12919	protein_coding	YES	CCDS54329.1	ENSP00000441410	P52742		UPI0001B3CB2A	NM_001164529.1,NM_007134.1	tolerated(0.25)		3/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF250,SMART_domains:SM00349																	MODERATE	1	SNV	1			1										PASS		rs778065252	.												T	3	4	12	58063493	58063493	G	T	1	0	0	0	0	1	0	0	0	18306	1203	42	2		2	ZNF135	19	58063493	Missense_Mutation	SNP	G	C3L-00144_TP	255097	58063493	554123	1635	5914											
A1BG	0	.	GRCh38	chr19	58352939	58352939	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctcacttggccctgtcAgctccaggagcttgctcagc	5	9	11	16	1	3	0	3	0	0	0	4	1	4	1	3	3	4	4	3	3	0	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.329T>A	p.Leu110Gln	p.L110Q	ENST00000263100	3/8	116	105	11	99	98	1	strelka-varscan-mutect	A1BG,missense_variant,p.Leu110Gln,ENST00000263100,NM_130786.3;A1BG,missense_variant,p.Leu64Gln,ENST00000600966,;ZNF497,downstream_gene_variant,,ENST00000311044,NM_198458.2;ZNF497,downstream_gene_variant,,ENST00000425453,NM_001207009.1;ZNF497,downstream_gene_variant,,ENST00000595763,;A1BG-AS1,non_coding_transcript_exon_variant,,ENST00000595302,;A1BG-AS1,intron_variant,,ENST00000594950,;A1BG-AS1,intron_variant,,ENST00000600686,;A1BG-AS1,intron_variant,,ENST00000593960,;A1BG-AS1,intron_variant,,ENST00000593374,;A1BG-AS1,intron_variant,,ENST00000600379,;A1BG-AS1,intron_variant,,ENST00000599728,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000599109,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000600123,;CTD-2619J13.5,downstream_gene_variant,,ENST00000623509,;CTD-2619J13.8,downstream_gene_variant,,ENST00000596636,;A1BG,non_coding_transcript_exon_variant,,ENST00000595014,;	T	ENST00000263100	Transcript	missense_variant	391/1722	329/1488	110/495	L/Q	cTg/cAg		1		-1	A1BG	HGNC	HGNC:5	protein_coding	YES	CCDS12976.1	ENSP00000263100	P04217	V9HWD8	UPI0000167B10	NM_130786.3	deleterious(0)		3/8		Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF3,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	58352939	58352939	A	T	1	0	0	0	0	1	0	0	0	1	188	7	4		4	A1BG	19	58352939	Missense_Mutation	SNP	A	C3L-00144_TP	289446	58352939	264677	1636	5915											
ZNF497	0	.	GRCh38	chr19	58356210	58356210	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtggctgaaaggcttccCgcactcgccgcaagcgtagg	8	6	14	13	5	0	1	0	1	0	0	2	1	1	1	2	4	1	5	2	4	3	2	rs772405314		C3L-00144_TP	C3L-00144_NB	C	C																c.1426G>C	p.Gly476Arg	p.G476R	ENST00000311044	3/3	115	102	13	87	87	0	strelka-mutect	ZNF497,missense_variant,p.Gly476Arg,ENST00000311044,NM_198458.2;ZNF497,missense_variant,p.Gly476Arg,ENST00000425453,NM_001207009.1;A1BG,upstream_gene_variant,,ENST00000263100,NM_130786.3;A1BG,upstream_gene_variant,,ENST00000600966,;ZNF497,downstream_gene_variant,,ENST00000595763,;A1BG-AS1,downstream_gene_variant,,ENST00000595302,;A1BG-AS1,downstream_gene_variant,,ENST00000594950,;CTD-2619J13.9,upstream_gene_variant,,ENST00000599952,;A1BG-AS1,downstream_gene_variant,,ENST00000600686,;A1BG-AS1,downstream_gene_variant,,ENST00000593960,;A1BG-AS1,downstream_gene_variant,,ENST00000593374,;A1BG-AS1,downstream_gene_variant,,ENST00000600379,;A1BG-AS1,downstream_gene_variant,,ENST00000599728,;CTD-2619J13.8,non_coding_transcript_exon_variant,,ENST00000600123,;CTD-2619J13.8,intron_variant,,ENST00000599109,;CTD-2619J13.5,downstream_gene_variant,,ENST00000623509,;CTD-2619J13.8,upstream_gene_variant,,ENST00000596636,;A1BG,upstream_gene_variant,,ENST00000595014,;	G	ENST00000311044	Transcript	missense_variant	1615/3468	1426/1497	476/498	G/R	Ggg/Cgg	rs772405314	1		-1	ZNF497	HGNC	HGNC:23714	protein_coding	YES	CCDS12977.1	ENSP00000311183	Q6ZNH5		UPI00001D819C	NM_198458.2	deleterious(0.05)		3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF30,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE		SNV	2			1										PASS		rs772405314	.												G	3	3	12	58356210	58356210	C	G	1	0	0	0	0	1	0	0	0	18519	652	23	4		4	ZNF497	19	58356210	Missense_Mutation	SNP	C	C3L-00144_TP	3271	58356210	261406	1637	5916											
ZNF446	0	.	GRCh38	chr19	58480221	58480221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcccagaggcccagccgcCccagggcccagggccggcag	6	1	15	19	2	0	1	0	0	0	1	0	1	0	1	7	4	2	1	7	4	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.848C>A	p.Pro283His	p.P283H	ENST00000594369	7/7	157	118	39	123	121	2	strelka-varscan-mutect	ZNF446,missense_variant,p.Pro283His,ENST00000594369,NM_017908.3;ZNF446,missense_variant,p.Pro255Thr,ENST00000335841,;ZNF446,missense_variant,p.Pro255His,ENST00000622313,;ZNF446,missense_variant,p.Pro283His,ENST00000610298,;ZNF446,intron_variant,,ENST00000596341,;ZNF324,downstream_gene_variant,,ENST00000536459,;ZNF446,downstream_gene_variant,,ENST00000600013,;RNU6-1337P,downstream_gene_variant,,ENST00000516525,;CTD-2619J13.23,upstream_gene_variant,,ENST00000598051,;SLC27A5,3_prime_UTR_variant,,ENST00000595851,;ZNF446,non_coding_transcript_exon_variant,,ENST00000391694,;ZNF446,downstream_gene_variant,,ENST00000594468,;	A	ENST00000594369	Transcript	missense_variant	1229/2238	848/1353	283/450	P/H	cCc/cAc		1		1	ZNF446	HGNC	HGNC:21036	protein_coding	YES	CCDS12982.1	ENSP00000472802	Q9NWS9		UPI0000071779	NM_017908.3	deleterious(0.03)		7/7		Low_complexity_(Seg):seg,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF73																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	58480221	58480221	C	A	1	0	0	0	0	1	0	0	0	18490	623	22	2		2	ZNF446	19	58480221	Missense_Mutation	SNP	C	C3L-00144_TP	124011	58480221	137395	1638	5917											
SLC52A3	0	.	GRCh38	chr20	761776	761776	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatggccatgttgtagccCccaaagcaggtcccaagcac	10	6	10	15	0	0	0	0	0	0	0	1	0	1	0	5	2	3	4	5	2	3	2	rs755616826		C3L-00144_TP	C3L-00144_NB	C	C																c.1122G>A	p.=	p.G374G	ENST00000632431	4/5	425	397	28	330	330	0	strelka-varscan-mutect	SLC52A3,synonymous_variant,p.=,ENST00000381944,;SLC52A3,synonymous_variant,p.=,ENST00000632431,NM_033409.3;SLC52A3,synonymous_variant,p.=,ENST00000217254,;SLC52A3,non_coding_transcript_exon_variant,,ENST00000473664,;SLC52A3,downstream_gene_variant,,ENST00000488495,;	T	ENST00000632431	Transcript	synonymous_variant	1461/2694	1122/1410	374/469	G	ggG/ggA	rs755616826,COSM3549316,COSM3549317	1		-1	SLC52A3	HGNC	HGNC:16187	protein_coding	YES	CCDS13007.1	ENSP00000488723	Q9NQ40	K0A6P4	UPI000002A74E	NM_033409.3			4/5		Pfam_domain:PF06237,hmmpanther:PTHR12929,hmmpanther:PTHR12929:SF4,Transmembrane_helices:TMhelix											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs755616826	.												T	2	4	12	761776	761776	C	T	1	0	0	0	0	0	0	0	1	14943	610	22	3		3	SLC52A3	20	761776	Silent	SNP	C	C3L-00144_TP		761776	63682391	1639	5918											
C20orf202	0	.	GRCh38	chr20	1206928	1206928	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaggcatcttcacagtgtCctggaggagctgcgtgcgga	7	9	15	10	2	2	1	1	1	1	0	3	4	3	4	1	4	3	2	1	4	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.195C>A	p.=	p.V65V	ENST00000400633	2/2	129	113	16	112	112	0	strelka-varscan-mutect	C20orf202,synonymous_variant,p.=,ENST00000400633,NM_001009612.2;RP4-545L17.12,non_coding_transcript_exon_variant,,ENST00000619766,;	A	ENST00000400633	Transcript	synonymous_variant	258/1604	195/369	65/122	V	gtC/gtA		1		1	C20orf202	HGNC	HGNC:37254	protein_coding	YES	CCDS46567.1	ENSP00000383474	A1L168		UPI0000141828	NM_001009612.2			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR32289:SF5,hmmpanther:PTHR32289																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	1206928	1206928	C	A	1	0	0	0	0	0	0	0	1	2007	842	30	2		2	C20orf202	20	1206928	Silent	SNP	C	C3L-00144_TP	445152	1206928	63237239	1640	5919											
SIRPB2	0	.	GRCh38	chr20	1477380	1477380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggttcactggtgaattctgCctctttggaagaggtagatt	9	14	12	6	0	3	3	1	1	2	2	3	4	3	4	1	4	1	2	1	4	3	5			C3L-00144_TP	C3L-00144_NB	C	C																c.817G>T	p.Ala273Ser	p.A273S	ENST00000359801	4/5	152	120	32	142	142	0	strelka-varscan-mutect	SIRPB2,missense_variant,p.Ala273Ser,ENST00000359801,NM_001122962.1;SIRPB2,missense_variant,p.Ala175Ser,ENST00000444444,NM_001134836.1;NSFL1C,upstream_gene_variant,,ENST00000553571,;SIRPB2,downstream_gene_variant,,ENST00000608747,;SIRPB2,missense_variant,p.Ala273Ser,ENST00000481731,;SIRPB2,missense_variant,p.Ala273Ser,ENST00000486775,;SIRPB2,non_coding_transcript_exon_variant,,ENST00000381630,;SIRPB2,downstream_gene_variant,,ENST00000609796,;SIRPB2,downstream_gene_variant,,ENST00000608073,;	A	ENST00000359801	Transcript	missense_variant	854/2642	817/1029	273/342	A/S	Gca/Tca	COSM4862923,COSM4862924,COSM723602,COSM723603	1		-1	SIRPB2	HGNC	HGNC:16247	protein_coding	YES	CCDS42849.1	ENSP00000352849	Q5JXA9		UPI00001D8311	NM_001122962.1	tolerated(0.43)		4/5		hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF9											1,1,1,1						MODERATE	1	SNV	2		1,1,1,1	1										PASS		.	.												A	3	1	12	1477380	1477380	C	A	1	0	0	0	0	1	0	0	0	14597	739	26	2		2	SIRPB2	20	1477380	Missense_Mutation	SNP	C	C3L-00144_TP	270452	1477380	62966787	1641	5920											
TGM3	0	.	GRCh38	chr20	2317131	2317131	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcacttacaccggtggcCgggacccaaggagctggaac	9	4	15	13	3	0	0	0	0	0	0	0	3	0	3	3	6	3	2	3	6	3	1	rs202051623		C3L-00144_TP	C3L-00144_NB	C	C																c.733C>A	p.=	p.R245R	ENST00000381458	6/13	259	212	47	214	214	0	strelka-varscan-mutect	TGM3,synonymous_variant,p.=,ENST00000381458,NM_003245.3;TGM3,non_coding_transcript_exon_variant,,ENST00000463090,;	A	ENST00000381458	Transcript	synonymous_variant	796/2642	733/2082	245/693	R	Cgg/Agg	rs202051623	1		1	TGM3	HGNC	HGNC:11779	protein_coding	YES	CCDS33435.1	ENSP00000370867	Q08188		UPI0000136CCC	NM_003245.3			6/13		Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF36,Superfamily_domains:SSF54001																	LOW	1	SNV	1			1										PASS		rs202051623	.												A	2	1	12	2317131	2317131	C	A	1	0	0	0	0	0	0	0	1	16264	643	23	1		1	TGM3	20	2317131	Silent	SNP	C	C3L-00144_TP	839751	2317131	62127036	1642	5921											
TGM3	0	.	GRCh38	chr20	2335198	2335198	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatccggatcacagcggtGtgcaaggtcccagatgagtc	10	8	13	10	2	1	3	1	2	0	1	4	4	3	4	2	3	2	1	2	3	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1725G>T	p.=	p.V575V	ENST00000381458	11/13	372	308	64	301	300	1	strelka-varscan-mutect	TGM3,synonymous_variant,p.=,ENST00000381458,NM_003245.3;	T	ENST00000381458	Transcript	synonymous_variant	1788/2642	1725/2082	575/693	V	gtG/gtT		1		1	TGM3	HGNC	HGNC:11779	protein_coding	YES	CCDS33435.1	ENSP00000370867	Q08188		UPI0000136CCC	NM_003245.3			11/13		Gene3D:2.60.40.10,Pfam_domain:PF00927,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF36,Superfamily_domains:SSF49309																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	2335198	2335198	G	T	1	0	0	0	0	0	0	0	1	16264	1364	48	2		2	TGM3	20	2335198	Silent	SNP	G	C3L-00144_TP	18067	2335198	62108969	1643	5922											
TGM6	0	.	GRCh38	chr20	2403467	2403467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcttacaatggctggcagGttctggatgccaccccccag	7	9	10	15	0	2	0	0	0	2	0	2	1	2	1	5	4	2	3	5	4	2	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1060G>T	p.Val354Phe	p.V354F	ENST00000202625	8/13	666	517	149	534	532	2	strelka-varscan-mutect	TGM6,missense_variant,p.Val354Phe,ENST00000202625,NM_198994.2;TGM6,missense_variant,p.Val354Phe,ENST00000381423,NM_001254734.1;TGM6,downstream_gene_variant,,ENST00000477505,;	T	ENST00000202625	Transcript	missense_variant	1121/2292	1060/2121	354/706	V/F	Gtt/Ttt		1		1	TGM6	HGNC	HGNC:16255	protein_coding	YES	CCDS13025.1	ENSP00000202625	O95932		UPI0000367011	NM_198994.2	deleterious(0)		8/13		hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF50,PIRSF_domain:PIRSF000459,Gene3D:1ex0A02,Pfam_domain:PF01841,SMART_domains:SM00460,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		rs979829530	.												T	3	4	12	2403467	2403467	G	T	1	0	0	0	0	1	0	0	0	16267	1261	44	2		2	TGM6	20	2403467	Missense_Mutation	SNP	G	C3L-00144_TP	68269	2403467	62040700	1644	5923											
CPXM1	0	.	GRCh38	chr20	2795609	2795609	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcacatactcccggggacCgtgtgccagtcagccccgtt	7	7	12	15	3	1	0	1	0	0	0	2	1	2	1	5	3	3	2	5	3	1	2	rs374663889		C3L-00144_TP	C3L-00144_NB	C	C																c.1710G>C	p.=	p.T570T	ENST00000380605	11/14	110	80	30	106	106	0	strelka-varscan-mutect	CPXM1,synonymous_variant,p.=,ENST00000380605,NM_019609.4,NM_001184699.1;	G	ENST00000380605	Transcript	synonymous_variant	1775/2391	1710/2205	570/734	T	acG/acC	rs374663889	1		-1	CPXM1	HGNC	HGNC:15771	protein_coding	YES	CCDS13033.1	ENSP00000369979	Q96SM3		UPI0000039DD0	NM_019609.4,NM_001184699.1			11/14		hmmpanther:PTHR11532:SF43,hmmpanther:PTHR11532,Pfam_domain:PF00246,Gene3D:3.40.630.10,SMART_domains:SM00631,Superfamily_domains:SSF53187																	LOW	1	SNV	1			1										PASS		rs374663889	.												G	2	3	12	2795609	2795609	C	G	1	0	0	0	0	0	0	0	1	3635	639	23	4		4	CPXM1	20	2795609	Silent	SNP	C	C3L-00144_TP	392142	2795609	61648558	1645	5924											
CPXM1	0	.	GRCh38	chr20	2797095	2797095	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaataggtcattggggtCtggtggaggttgagtttatg	9	13	17	2	0	2	1	1	1	1	0	2	3	2	3	0	7	0	2	0	7	4	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.833-1G>T		p.X278_splice	ENST00000380605		162	128	34	128	127	1	strelka-varscan-mutect	CPXM1,splice_acceptor_variant,,ENST00000380605,NM_019609.4,NM_001184699.1;	A	ENST00000380605	Transcript	splice_acceptor_variant	-/2391	833/2205	278/734				1		-1	CPXM1	HGNC	HGNC:15771	protein_coding	YES	CCDS13033.1	ENSP00000369979	Q96SM3		UPI0000039DD0	NM_019609.4,NM_001184699.1				6/13																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	12	2797095	2797095	C	A	1	0	0	0	0	0	0	1	0	3635	927	32	2		2	CPXM1	20	2797095	Splice_Site	SNP	C	C3L-00144_TP	1486	2797095	61647072	1646	5925											
UBOX5	0	.	GRCh38	chr20	3122280	3122280	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggtttttcagtaagactTtgcctaccaaggtgaacgcc	9	13	9	10	1	2	2	1	1	1	1	2	2	2	2	3	2	3	2	3	2	4	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.359A>C	p.Lys120Thr	p.K120T	ENST00000217173	3/5	383	317	66	295	295	0	strelka-varscan-mutect	UBOX5,missense_variant,p.Lys120Thr,ENST00000217173,NM_001267584.1,NM_014948.3;UBOX5,missense_variant,p.Lys120Thr,ENST00000348031,NM_199415.2;UBOX5,downstream_gene_variant,,ENST00000449731,;UBOX5-AS1,intron_variant,,ENST00000446537,;	G	ENST00000217173	Transcript	missense_variant	831/4631	359/1626	120/541	K/T	aAa/aCa		1		-1	UBOX5	HGNC	HGNC:17777	protein_coding	YES	CCDS13046.1	ENSP00000217173	O94941		UPI0000137935	NM_001267584.1,NM_014948.3	deleterious(0)		3/5		hmmpanther:PTHR13492:SF2,hmmpanther:PTHR13492																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	3122280	3122280	T	G	1	0	0	0	0	1	0	0	0	17418	1841	64	5		5	UBOX5	20	3122280	Missense_Mutation	SNP	T	C3L-00144_TP	325185	3122280	61321887	1647	5926											
FASTKD5	0	.	GRCh38	chr20	3148758	3148758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaatcaaacacttctacgtCctcttcatcaactcctgtgg	10	12	6	13	1	5	0	3	0	2	0	7	1	7	1	2	2	3	0	2	2	4	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.313G>T	p.Asp105Tyr	p.D105Y	ENST00000380266	2/2	310	269	41	270	270	0	strelka-varscan-mutect	FASTKD5,missense_variant,p.Asp105Tyr,ENST00000380266,NM_021826.4;UBOX5,intron_variant,,ENST00000217173,NM_001267584.1,NM_014948.3;UBOX5,intron_variant,,ENST00000348031,NM_199415.2;UBOX5,intron_variant,,ENST00000449731,;UBOX5-AS1,intron_variant,,ENST00000446537,;	A	ENST00000380266	Transcript	missense_variant	635/2874	313/2295	105/764	D/Y	Gac/Tac		1		-1	FASTKD5	HGNC	HGNC:25790	protein_coding	YES	CCDS13048.1	ENSP00000369618	Q7L8L6		UPI000015F514	NM_021826.4	deleterious(0)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR21228:SF30,hmmpanther:PTHR21228																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	3148758	3148758	C	A	1	0	0	0	0	1	0	0	0	5548	855	30	2		2	FASTKD5	20	3148758	Missense_Mutation	SNP	C	C3L-00144_TP	26478	3148758	61295409	1648	5927											
C20orf194	0	.	GRCh38	chr20	3324969	3324969	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgctacctccttggcCtgtaaaataataagacagcg	11	11	8	11	1	1	1	0	0	1	1	2	1	2	1	3	1	4	3	3	1	5	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1189-1G>T		p.X397_splice	ENST00000252032		234	196	38	145	145	0	strelka-varscan-mutect	C20orf194,splice_acceptor_variant,,ENST00000252032,NM_001009984.2;	A	ENST00000252032	Transcript	splice_acceptor_variant	-/6869	1189/3534	397/1177				1		-1	C20orf194	HGNC	HGNC:17721	protein_coding	YES	CCDS42851.1	ENSP00000252032	Q5TEA3		UPI0000470A8D	NM_001009984.2				13/36																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	12	3324969	3324969	C	A	1	0	0	0	0	0	0	1	0	2005	695	24	2		2	C20orf194	20	3324969	Splice_Site	SNP	C	C3L-00144_TP	176211	3324969	61119198	1649	5928											
MAVS	0	.	GRCh38	chr20	3865967	3865980	+	Frame_Shift_Del	DEL	CAACCCTGGGCCAC	CAACCCTGGGCCAC	-																															agcatccagctcctggagggCaaccctgggccacctgcgga																								novel		C3L-00144_TP	C3L-00144_NB	CAACCCTGGGCCAC	CAACCCTGGGCCAC																c.1444_1457delAACCCTGGGCCACC	p.Asn482CysfsTer95	p.N482Cfs*95	ENST00000428216	7/7	170	136	34	173	173	0	sindel-varindel-pindel	MAVS,frameshift_variant,p.Asn482CysfsTer95,ENST00000428216,NM_020746.4;MAVS,frameshift_variant,p.Asn341CysfsTer95,ENST00000416600,NM_001206491.1;	-	ENST00000428216	Transcript	frameshift_variant	1571-1584/11714	1443-1456/1623	481-486/540	GNPGPP/GX	ggCAACCCTGGGCCACct/ggct		1		1	MAVS	HGNC	HGNC:29233	protein_coding	YES	CCDS33437.1	ENSP00000401980	Q7Z434		UPI000015F983	NM_020746.4			7/7		Low_complexity_(Seg):seg,hmmpanther:PTHR21446:SF6,hmmpanther:PTHR21446																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	12	3865967	3865967	CAACCCTGGGCCAC	-	1	0	1	0	1	0	0	0	0	9265	697	25	0		0	MAVS	20	3865967	Frame_Shift_Del	DEL	CAACCCTGGGCCAC	C3L-00144_TP	540998	3865967	60578200	1650	5929											
ADRA1D	0	.	GRCh38	chr20	4247935	4247935	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttggccgctttcttctcacgGgagaacttgagcaggcgcac	7	10	12	12	3	2	2	1	1	2	1	3	3	2	2	1	3	2	3	1	3	1	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1023C>T	p.=	p.S341S	ENST00000379453	1/2	153	120	33	96	96	0	strelka-varscan-mutect	ADRA1D,synonymous_variant,p.=,ENST00000379453,NM_000678.3;	A	ENST00000379453	Transcript	synonymous_variant	1140/2728	1023/1719	341/572	S	tcC/tcT		1		-1	ADRA1D	HGNC	HGNC:280	protein_coding	YES	CCDS13079.1	ENSP00000368766	P25100	B0ZBE0	UPI000003B078	NM_000678.3			1/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF14,SMART_domains:SM01381,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	4247935	4247935	G	A	1	0	0	0	0	0	0	0	1	412	1219	43	3		3	ADRA1D	20	4247935	Silent	SNP	G	C3L-00144_TP	381968	4247935	60196232	1651	5930											
PLCB4	0	.	GRCh38	chr20	9453379	9453379	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcagaagttacactgcacGcaagttgacaaaattgtggc	14	9	10	8	1	0	2	0	1	0	1	0	2	0	2	0	1	3	5	0	1	5	3	rs749780243		C3L-00144_TP	C3L-00144_NB	G	G																c.2877G>T	p.=	p.T959T	ENST00000378501	29/36	199	168	31	195	194	1	strelka-varscan-mutect	PLCB4,synonymous_variant,p.=,ENST00000378501,NM_000933.3;PLCB4,synonymous_variant,p.=,ENST00000378493,;PLCB4,synonymous_variant,p.=,ENST00000378473,NM_001172646.1;PLCB4,synonymous_variant,p.=,ENST00000278655,NM_182797.2;PLCB4,synonymous_variant,p.=,ENST00000414679,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;	T	ENST00000378501	Transcript	synonymous_variant	2892/5833	2877/3585	959/1194	T	acG/acT	rs749780243,COSM724635	1		1	PLCB4	HGNC	HGNC:9059	protein_coding	YES	CCDS13104.1	ENSP00000367762	Q15147		UPI00002069DF	NM_000933.3			29/36		Superfamily_domains:0053448,Gene3D:1jadA00,PIRSF_domain:PIRSF000956,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF106											0,1						LOW	1	SNV	5		0,1	1										PASS		rs749780243	.												T	2	4	12	9453379	9453379	G	T	1	0	0	0	0	0	0	0	1	12124	1074	38	1		1	PLCB4	20	9453379	Silent	SNP	G	C3L-00144_TP	5205444	9453379	54990788	1652	5931											
SNAP25	0	.	GRCh38	chr20	10299413	10299413	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgacaggatcatggagaagGtgagcacgtggcagtcagca	12	6	15	8	2	2	2	2	1	0	1	3	5	2	3	0	4	2	3	0	4	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.552+1G>T		p.X184_splice	ENST00000254976		69	55	14	59	59	0	strelka-varscan-mutect	SNAP25,splice_donor_variant,,ENST00000254976,NM_130811.2;SNAP25,splice_donor_variant,,ENST00000304886,NM_003081.3;SNAP25-AS1,intron_variant,,ENST00000421143,;SNAP25-AS1,intron_variant,,ENST00000453544,;SNAP25,splice_donor_variant,,ENST00000495883,;	T	ENST00000254976	Transcript	splice_donor_variant	-/2053	552/621	184/206				1		1	SNAP25	HGNC	HGNC:11132	protein_coding	YES	CCDS13110.1	ENSP00000254976	P60880		UPI0000001103	NM_130811.2				7/7																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	12	10299413	10299413	G	T	1	0	0	0	0	0	0	1	0	15151	1275	44	2		2	SNAP25	20	10299413	Splice_Site	SNP	G	C3L-00144_TP	846034	10299413	54144754	1653	5932											
MACROD2	0	.	GRCh38	chr20	15862744	15862744	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttttatcttttgcctctaGgtggatcggatcattttctg	5	20	9	7	1	4	0	1	0	3	0	5	2	4	2	1	3	1	1	1	3	2	7	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.646-1G>T		p.X216_splice	ENST00000217246		180	165	15	158	158	0	strelka-varscan-mutect	MACROD2,splice_acceptor_variant,,ENST00000217246,NM_080676.5;MACROD2,splice_acceptor_variant,,ENST00000402914,NM_001033087.1;MACROD2,5_prime_UTR_variant,,ENST00000378058,;	T	ENST00000217246	Transcript	splice_acceptor_variant	-/4994	646/1278	216/425				1		1	MACROD2	HGNC	HGNC:16126	protein_coding	YES	CCDS13120.2	ENSP00000217246	A1Z1Q3		UPI00005B2E12	NM_080676.5				8/16																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	12	15862744	15862744	G	T	1	0	0	0	0	0	0	1	0	9062	1014	35	2		2	MACROD2	20	15862744	Splice_Site	SNP	G	C3L-00144_TP	5563331	15862744	48581423	1654	5933											
THBD	0	.	GRCh38	chr20	23049142	23049142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaggtcgagccgtgcccaCctgctatagctggtgttgtt	5	13	13	10	2	0	1	0	1	0	0	1	2	0	1	3	2	4	4	3	2	2	5	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.363G>T	p.Arg121Ser	p.R121S	ENST00000377103	1/1	281	220	61	185	185	0	strelka-varscan-mutect	THBD,missense_variant,p.Arg121Ser,ENST00000377103,NM_000361.2;	A	ENST00000377103	Transcript	missense_variant	600/4109	363/1728	121/575	R/S	agG/agT		1		-1	THBD	HGNC	HGNC:11784	protein_coding	YES	CCDS13148.1	ENSP00000366307	P07204		UPI00000002BD	NM_000361.2	deleterious(0.01)		1/1		PROSITE_profiles:PS50041,hmmpanther:PTHR24036,Pfam_domain:PF00059,PIRSF_domain:PIRSF001775,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	12	23049142	23049142	C	A	1	0	0	0	0	1	0	0	0	16285	506	18	2		2	THBD	20	23049142	Missense_Mutation	SNP	C	C3L-00144_TP	7186398	23049142	41395025	1655	5934											
GINS1	0	.	GRCh38	chr20	25407856	25407856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatggaactgatccgcgaGctgcatcgcgcgcccgaagg	8	5	14	14	6	0	1	0	1	0	0	2	4	1	2	3	2	3	2	3	2	2	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.36G>A	p.=	p.E12E	ENST00000262460	1/7	198	154	44	184	184	0	strelka-varscan-mutect	GINS1,synonymous_variant,p.=,ENST00000262460,NM_021067.3;GINS1,non_coding_transcript_exon_variant,,ENST00000484893,;	A	ENST00000262460	Transcript	synonymous_variant	130/3249	36/591	12/196	E	gaG/gaA		1		1	GINS1	HGNC	HGNC:28980	protein_coding	YES	CCDS33451.1	ENSP00000262460	Q14691		UPI00001393F9	NM_021067.3			1/7		hmmpanther:PTHR12914,hmmpanther:PTHR12914:SF2,Superfamily_domains:SSF158573																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	25407856	25407856	G	A	1	0	0	0	0	0	0	0	1	6269	962	34	3		3	GINS1	20	25407856	Silent	SNP	G	C3L-00144_TP	2358714	25407856	39036311	1656	5935											
FAM182B	0	.	GRCh38	chr20	25775222	25775222	+	Frame_Shift_Del	DEL	G	G	-																															gaccaggcagtgactttgctGggcatccgcagtgctgacca																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.98delC	p.Pro33GlnfsTer22	p.P33Qfs*22	ENST00000376403	3/3	512	459	53	406	406	0	sindel-varindel-pindel	FAM182B,frameshift_variant,p.Pro33GlnfsTer22,ENST00000376403,;FAM182B,frameshift_variant,p.Pro41GlnfsTer22,ENST00000584071,;FAM182B,frameshift_variant,p.Pro32GlnfsTer22,ENST00000376404,;FAM182B,non_coding_transcript_exon_variant,,ENST00000478164,;FAM182B,non_coding_transcript_exon_variant,,ENST00000582267,;FAM182B,non_coding_transcript_exon_variant,,ENST00000485279,;FAM182B,non_coding_transcript_exon_variant,,ENST00000453481,;FAM182B,downstream_gene_variant,,ENST00000584356,;	-	ENST00000376403	Transcript	frameshift_variant	477/1681	98/459	33/152	P/X	cCa/ca		1		-1	FAM182B	HGNC	HGNC:34503	protein_coding	YES		ENSP00000365585	Q5T319		UPI000047001E				3/3																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	12	25775222	25775222	G	-	1	0	1	0	1	0	0	0	0	5356	1348	47	0		0	FAM182B	20	25775222	Frame_Shift_Del	DEL	G	C3L-00144_TP	367366	25775222	38668945	1657	5936											
DEFB119	0	.	GRCh38	chr20	31377433	31377433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcatcgaaggatgtggCgtttgcctgccaaaggaaaa	12	8	12	9	2	0	0	0	0	0	0	1	3	0	2	3	3	3	2	3	3	4	1	rs746865254		C3L-00144_TP	C3L-00144_NB	C	C																c.68G>T	p.Arg23Leu	p.R23L	ENST00000376321	2/2	60	48	12	40	40	0	strelka-varscan-mutect	DEFB119,missense_variant,p.Arg23Leu,ENST00000376321,NM_153289.3;DEFB119,synonymous_variant,p.=,ENST00000339144,;DEFB118,downstream_gene_variant,,ENST00000253381,NM_054112.2;SNORA40,downstream_gene_variant,,ENST00000390832,;DEFB119,non_coding_transcript_exon_variant,,ENST00000492344,;	A	ENST00000376321	Transcript	missense_variant	188/457	68/255	23/84	R/L	cGc/cTc	rs746865254,COSM274767,COSM3693356,COSM4440949,COSM4440950	1		-1	DEFB119	HGNC	HGNC:18099	protein_coding		CCDS13178.1	ENSP00000365499	Q8N690		UPI000003D7C7	NM_153289.3	tolerated_low_confidence(0.08)		2/2		hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF6											0,1,1,1,1						MODERATE		SNV	1		0,1,1,1,1	1										PASS		rs746865254	.												A	3	1	12	31377433	31377433	C	A	1	0	0	0	0	1	0	0	0	4210	768	27	1		1	DEFB119	20	31377433	Missense_Mutation	SNP	C	C3L-00144_TP	5602211	31377433	33066734	1658	5937											
TM9SF4	0	.	GRCh38	chr20	32165351	32165351	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggctacacggccctcatGgtcttgtccttctggctgct	3	15	10	13	1	3	0	1	0	2	0	4	0	4	0	2	4	2	3	2	4	1	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1836G>C	p.Met612Ile	p.M612I	ENST00000398022	18/18	294	229	65	219	219	0	strelka-varscan-mutect	TM9SF4,missense_variant,p.Met595Ile,ENST00000217315,;TM9SF4,missense_variant,p.Met612Ile,ENST00000398022,NM_014742.3;TM9SF4,non_coding_transcript_exon_variant,,ENST00000495749,;TM9SF4,non_coding_transcript_exon_variant,,ENST00000479591,;	C	ENST00000398022	Transcript	missense_variant	2071/3978	1836/1929	612/642	M/I	atG/atC		1		1	TM9SF4	HGNC	HGNC:30797	protein_coding	YES	CCDS13196.2	ENSP00000381104	Q92544	A0A024QYR3	UPI0000206163	NM_014742.3	tolerated(0.82)		18/18		hmmpanther:PTHR10766,hmmpanther:PTHR10766:SF55,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	32165351	32165351	G	C	1	0	0	0	0	1	0	0	0	16424	1348	47	4		4	TM9SF4	20	32165351	Missense_Mutation	SNP	G	C3L-00144_TP	787918	32165351	32278816	1659	5938											
BPIFB2	0	.	GRCh38	chr20	33019657	33019657	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctgtggccatgctccaCacaaacaacgccaccctgcg	11	5	7	18	2	0	0	0	0	0	0	1	0	1	0	5	1	4	1	5	1	2	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.987C>G	p.His329Gln	p.H329Q	ENST00000170150	11/16	124	105	19	114	114	0	strelka-varscan-mutect	BPIFB2,missense_variant,p.His329Gln,ENST00000170150,NM_025227.2;	G	ENST00000170150	Transcript	missense_variant	1182/1898	987/1377	329/458	H/Q	caC/caG		1		1	BPIFB2	HGNC	HGNC:16177	protein_coding	YES	CCDS13210.1	ENSP00000170150	Q8N4F0		UPI00000377B0	NM_025227.2	tolerated(0.29)		11/16		hmmpanther:PTHR10504:SF92,hmmpanther:PTHR10504,Gene3D:1ewfA02,Pfam_domain:PF02886,PIRSF_domain:PIRSF002417,SMART_domains:SM00329,Superfamily_domains:SSF55394																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	33019657	33019657	C	G	1	0	0	0	0	1	0	0	0	1658	477	17	4		4	BPIFB2	20	33019657	Missense_Mutation	SNP	C	C3L-00144_TP	854306	33019657	31424510	1660	5939											
BPIFB6	0	.	GRCh38	chr20	33031746	33031746	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatggacatcatgaaccgTggtgagcttgtgggcccggg	7	8	17	9	2	1	2	1	2	0	0	1	3	1	3	2	5	2	2	2	5	1	1	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.97+2T>A		p.X33_splice	ENST00000349552		207	165	42	162	162	0	strelka-varscan-mutect	BPIFB6,splice_donor_variant,,ENST00000349552,NM_174897.2;BPIFB6,splice_region_variant,p.=,ENST00000542375,;	A	ENST00000349552	Transcript	splice_donor_variant	-/1362	97/1362	33/453				1		1	BPIFB6	HGNC	HGNC:16504	protein_coding	YES	CCDS13211.1	ENSP00000344929	Q8NFQ5		UPI000003C8F3	NM_174897.2				1/14																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	12	33031746	33031746	T	A	1	0	0	0	0	0	0	1	0	1661	1710	59	4		4	BPIFB6	20	33031746	Splice_Site	SNP	T	C3L-00144_TP	12089	33031746	31412421	1661	5940											
SLA2	0	.	GRCh38	chr20	36641325	36641325	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattttcttctgctgggcAgacttcccattgttcctcag	6	15	9	11	0	3	2	1	0	2	2	5	3	5	2	2	1	1	3	2	1	0	6	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.11T>C	p.Leu4Pro	p.L4P	ENST00000262866	2/8	204	178	26	165	165	0	strelka-varscan-mutect	SLA2,missense_variant,p.Leu4Pro,ENST00000262866,NM_032214.3;SLA2,missense_variant,p.Leu4Pro,ENST00000360672,NM_175077.2;	G	ENST00000262866	Transcript	missense_variant	434/2757	11/786	4/261	L/P	cTg/cCg		1		-1	SLA2	HGNC	HGNC:17329	protein_coding	YES	CCDS13282.1	ENSP00000262866	Q9H6Q3		UPI000004B142	NM_032214.3	tolerated(0.16)		2/8		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	36641325	36641325	A	G	1	0	0	0	0	1	0	0	0	14629	188	7	5		5	SLA2	20	36641325	Missense_Mutation	SNP	A	C3L-00144_TP	3609579	36641325	27802842	1662	5941											
KIAA1755	0	.	GRCh38	chr20	38228182	38228182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctgaccagaccgggctGtgggggctgtctcctggcgt	3	8	18	12	3	1	2	0	1	1	1	2	2	1	2	3	5	0	3	3	5	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1930C>A	p.Gln644Lys	p.Q644K	ENST00000279024	6/14	139	111	28	114	114	0	strelka-varscan-mutect	KIAA1755,missense_variant,p.Gln644Lys,ENST00000279024,NM_001029864.1;KIAA1755,missense_variant,p.Gln644Lys,ENST00000496900,;KIAA1755,upstream_gene_variant,,ENST00000435901,;	T	ENST00000279024	Transcript	missense_variant	2202/6429	1930/3603	644/1200	Q/K	Cag/Aag		1		-1	KIAA1755	HGNC	HGNC:29372	protein_coding	YES	CCDS33467.1	ENSP00000279024	Q5JYT7		UPI000041AADF	NM_001029864.1	tolerated(0.93)		6/14																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	38228182	38228182	G	T	1	0	0	0	0	1	0	0	0	8128	1386	48	2		2	KIAA1755	20	38228182	Missense_Mutation	SNP	G	C3L-00144_TP	1586857	38228182	26215985	1663	5942											
EMILIN3	0	.	GRCh38	chr20	41362908	41362908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaaagcccacagggacagCaggagccctggggccaccag	11	1	13	16	0	0	0	0	0	0	0	0	2	0	2	5	4	3	1	5	4	1	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.661G>A	p.Ala221Thr	p.A221T	ENST00000332312	4/4	163	140	23	139	139	0	strelka-varscan-mutect	EMILIN3,missense_variant,p.Ala221Thr,ENST00000332312,NM_052846.1;LPIN3,downstream_gene_variant,,ENST00000373257,;LPIN3,downstream_gene_variant,,ENST00000632009,NM_001301860.1;LPIN3,downstream_gene_variant,,ENST00000445975,;LPIN3,downstream_gene_variant,,ENST00000491528,;LPIN3,downstream_gene_variant,,ENST00000496565,;	T	ENST00000332312	Transcript	missense_variant	854/3796	661/2301	221/766	A/T	Gct/Act		1		-1	EMILIN3	HGNC	HGNC:16123	protein_coding	YES	CCDS13316.1	ENSP00000332806	Q9NT22		UPI00001D82E8	NM_052846.1	tolerated(0.31)		4/4		hmmpanther:PTHR15427:SF2,hmmpanther:PTHR15427																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	41362908	41362908	C	T	1	0	0	0	0	1	0	0	0	4938	710	25	3		3	EMILIN3	20	41362908	Missense_Mutation	SNP	C	C3L-00144_TP	3134726	41362908	23081259	1664	5943											
PTPRT	0	.	GRCh38	chr20	42282498	42282498	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccaacataccttttgtagCcagacgaacacagttgattt	12	12	7	10	1	0	2	0	1	0	1	0	3	0	2	3	0	5	2	3	0	4	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2167G>T	p.Ala723Ser	p.A723S	ENST00000373198	13/32	218	174	44	157	156	1	strelka-varscan-mutect	PTPRT,missense_variant,p.Ala723Ser,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Ala723Ser,ENST00000373193,;PTPRT,missense_variant,p.Ala723Ser,ENST00000373201,;PTPRT,missense_variant,p.Ala723Ser,ENST00000373190,;PTPRT,missense_variant,p.Ala723Ser,ENST00000373184,;PTPRT,missense_variant,p.Ala723Ser,ENST00000356100,;PTPRT,missense_variant,p.Ala723Ser,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Ala341Ser,ENST00000612229,;PTPRT,missense_variant,p.Ala339Ser,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	A	ENST00000373198	Transcript	missense_variant	2403/12746	2167/4383	723/1460	A/S	Gct/Tct		1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	deleterious(0.04)		13/32		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	12	42282498	42282498	C	A	1	0	0	0	0	1	0	0	0	12967	739	26	2		2	PTPRT	20	42282498	Missense_Mutation	SNP	C	C3L-00144_TP	919590	42282498	22161669	1665	5944											
TOX2	0	.	GRCh38	chr20	44065881	44065881	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcctcgcccggacgcTgggctccaagtctctgctgc	4	8	12	17	3	1	0	0	0	1	0	4	1	2	1	4	2	4	3	4	2	1	0	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1130T>C	p.Leu377Pro	p.L377P	ENST00000341197	7/9	125	101	24	100	100	0	strelka-varscan-mutect	TOX2,missense_variant,p.Leu359Pro,ENST00000358131,NM_001098798.1;TOX2,missense_variant,p.Leu335Pro,ENST00000372999,NM_032883.2;TOX2,missense_variant,p.Leu377Pro,ENST00000341197,NM_001098797.1;TOX2,missense_variant,p.Leu335Pro,ENST00000423191,NM_001098796.1;TOX2,intron_variant,,ENST00000413823,;TOX2,non_coding_transcript_exon_variant,,ENST00000435864,;	C	ENST00000341197	Transcript	missense_variant	1158/1880	1130/1521	377/506	L/P	cTg/cCg		1		1	TOX2	HGNC	HGNC:16095	protein_coding	YES	CCDS46603.1	ENSP00000344724	Q96NM4		UPI000040F535	NM_001098797.1	tolerated(0.05)		7/9		Low_complexity_(Seg):seg,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF220																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	12	44065881	44065881	T	C	1	0	0	0	0	1	0	0	0	16856	1580	55	5		5	TOX2	20	44065881	Missense_Mutation	SNP	T	C3L-00144_TP	1783383	44065881	20378286	1666	5945											
JPH2	0	.	GRCh38	chr20	44159804	44159804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccgtcgggcagcgtggtgCagccatagccgtggcgcagg	5	5	19	12	5	0	0	0	0	0	0	1	0	0	0	3	5	4	3	3	5	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.983G>A	p.Cys328Tyr	p.C328Y	ENST00000372980	2/6	447	357	90	368	368	0	strelka-varscan-mutect	JPH2,missense_variant,p.Cys328Tyr,ENST00000372980,NM_020433.4;	T	ENST00000372980	Transcript	missense_variant	1856/4787	983/2091	328/696	C/Y	tGc/tAc		1		-1	JPH2	HGNC	HGNC:14202	protein_coding	YES	CCDS13325.1	ENSP00000362071	Q9BR39		UPI000012DAC2	NM_020433.4	deleterious(0)		2/6		hmmpanther:PTHR23085:SF5,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387,Gene3D:1h3iA01,Pfam_domain:PF02493,SMART_domains:SM00698,Superfamily_domains:0038399																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	44159804	44159804	C	T	1	0	0	0	0	1	0	0	0	7873	710	25	3		3	JPH2	20	44159804	Missense_Mutation	SNP	C	C3L-00144_TP	93923	44159804	20284363	1667	5946											
STK4	0	.	GRCh38	chr20	45025054	45025054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggaaaaccagatcaacaGctttggcaagagtgtacctg	16	7	10	8	0	1	2	1	0	0	2	1	3	1	3	2	2	4	3	2	2	6	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1229G>A	p.Ser410Asn	p.S410N	ENST00000372806	10/11	165	152	13	114	113	1	strelka-varscan-mutect	STK4,missense_variant,p.Ser410Asn,ENST00000372806,NM_006282.2;STK4,missense_variant,p.Ser355Asn,ENST00000499879,;STK4,missense_variant,p.Ser410Asn,ENST00000372801,;	A	ENST00000372806	Transcript	missense_variant	1324/6342	1229/1464	410/487	S/N	aGc/aAc		1		1	STK4	HGNC	HGNC:11408	protein_coding	YES	CCDS13341.1	ENSP00000361892	Q13043		UPI00001360FF	NM_006282.2	tolerated(0.49)		10/11		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF425																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	45025054	45025054	G	A	1	0	0	0	0	1	0	0	0	15683	971	34	3		3	STK4	20	45025054	Missense_Mutation	SNP	G	C3L-00144_TP	865250	45025054	19419113	1668	5947											
CDH22	0	.	GRCh38	chr20	46174932	46174932	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcgtagaggctccgcagCgccgacatgtcgtaggcttc	8	8	13	12	5	0	1	0	0	0	1	4	2	1	1	2	2	1	5	2	2	3	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2061G>C	p.=	p.A687A	ENST00000537909	12/12	239	196	43	225	225	0	strelka-varscan-mutect	CDH22,synonymous_variant,p.=,ENST00000537909,NM_021248.2;CDH22,synonymous_variant,p.=,ENST00000372262,;RP5-998H6.2,upstream_gene_variant,,ENST00000450586,;	G	ENST00000537909	Transcript	synonymous_variant	2704/3902	2061/2487	687/828	A	gcG/gcC		1		-1	CDH22	HGNC	HGNC:13251	protein_coding	YES	CCDS13395.1	ENSP00000437790	Q9UJ99		UPI0000126DC0	NM_021248.2			12/12		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF311,Pfam_domain:PF01049																	LOW	1	SNV	2			1										PASS		rs1310127802	.												G	2	3	12	46174932	46174932	C	G	1	0	0	0	0	0	0	0	1	2810	755	27	4		4	CDH22	20	46174932	Silent	SNP	C	C3L-00144_TP	1149878	46174932	18269235	1669	5948											
CDH22	0	.	GRCh38	chr20	46241051	46241051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctgcaccttgatgatGaactccgactcgggctccag	8	10	10	13	2	0	3	0	3	0	0	4	4	3	3	4	1	2	2	4	1	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.462C>A	p.Phe154Leu	p.F154L	ENST00000537909	3/12	267	217	50	256	256	0	strelka-varscan-mutect	CDH22,missense_variant,p.Phe154Leu,ENST00000537909,NM_021248.2;CDH22,missense_variant,p.Phe154Leu,ENST00000372262,;	T	ENST00000537909	Transcript	missense_variant	1105/3902	462/2487	154/828	F/L	ttC/ttA		1		-1	CDH22	HGNC	HGNC:13251	protein_coding	YES	CCDS13395.1	ENSP00000437790	Q9UJ99		UPI0000126DC0	NM_021248.2	deleterious(0)		3/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF311,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	46241051	46241051	G	T	1	0	0	0	0	1	0	0	0	2810	1281	45	2		2	CDH22	20	46241051	Missense_Mutation	SNP	G	C3L-00144_TP	66119	46241051	18203116	1670	5949											
NFATC2	0	.	GRCh38	chr20	51391438	51391438	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgaaaactccttcctGataatttcattaactacaaa	14	13	4	10	0	1	2	1	2	0	0	4	2	4	2	3	1	3	0	3	1	6	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2736C>A	p.=	p.I912I	ENST00000396009	10/10	286	260	26	202	200	2	strelka-varscan-mutect	NFATC2,synonymous_variant,p.=,ENST00000396009,NM_001258297.1,NM_173091.3;NFATC2,synonymous_variant,p.=,ENST00000609943,NM_001258295.1,NM_001258292.1;NFATC2,3_prime_UTR_variant,,ENST00000371564,NM_012340.4;NFATC2,3_prime_UTR_variant,,ENST00000414705,NM_001136021.2;NFATC2,3_prime_UTR_variant,,ENST00000610033,NM_001258296.1;NFATC2,3_prime_UTR_variant,,ENST00000609507,NM_001258294.1;NFATC2,non_coding_transcript_exon_variant,,ENST00000496054,;	T	ENST00000396009	Transcript	synonymous_variant	2956/7437	2736/2778	912/925	I	atC/atA		1		-1	NFATC2	HGNC	HGNC:7776	protein_coding	YES	CCDS13437.1	ENSP00000379330	Q13469		UPI0000167D0F	NM_001258297.1,NM_173091.3			10/10		hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	51391438	51391438	G	T	1	0	0	0	0	0	0	0	1	10399	1280	45	2		2	NFATC2	20	51391438	Silent	SNP	G	C3L-00144_TP	5150387	51391438	13052729	1671	5950											
TSHZ2	0	.	GRCh38	chr20	53253842	53253842	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggataaaatgaccgctgtCtacgccaacatcctgtcgga	12	9	9	11	3	1	1	0	1	1	0	3	3	2	3	3	2	2	1	3	2	4	2	rs141908704		C3L-00144_TP	C3L-00144_NB	C	C																c.384C>A	p.=	p.V128V	ENST00000371497	2/3	165	132	33	114	112	2	strelka-varscan-mutect	TSHZ2,synonymous_variant,p.=,ENST00000371497,NM_173485.5;TSHZ2,synonymous_variant,p.=,ENST00000603338,NM_001193421.1;TSHZ2,synonymous_variant,p.=,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	A	ENST00000371497	Transcript	synonymous_variant	1271/12187	384/3105	128/1034	V	gtC/gtA	rs141908704	1		1	TSHZ2	HGNC	HGNC:13010	protein_coding	YES	CCDS33490.1	ENSP00000360552	Q9NRE2		UPI0000206747	NM_173485.5			2/3		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF3																	LOW	1	SNV	1			1										PASS		rs141908704	.												A	2	1	12	53253842	53253842	C	A	1	0	0	0	0	0	0	0	1	17129	900	32	2		2	TSHZ2	20	53253842	Silent	SNP	C	C3L-00144_TP	1862404	53253842	11190325	1672	5951											
CASS4	0	.	GRCh38	chr20	56452958	56452958	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaagcggaactgtgaaaaGgaagagactgtgcagttgac	14	9	13	5	1	0	3	0	2	0	1	0	6	0	5	0	2	3	2	0	2	5	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1782G>A	p.=	p.K594K	ENST00000360314	6/7	241	202	39	208	208	0	strelka-varscan-mutect	CASS4,synonymous_variant,p.=,ENST00000360314,NM_001164116.1,NM_020356.3,NM_001164114.1;CASS4,intron_variant,,ENST00000434344,NM_001164115.1;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;	A	ENST00000360314	Transcript	synonymous_variant	2007/2619	1782/2361	594/786	K	aaG/aaA		1		1	CASS4	HGNC	HGNC:15878	protein_coding	YES	CCDS33492.1	ENSP00000353462	Q9NQ75		UPI00001285DB	NM_001164116.1,NM_020356.3,NM_001164114.1			6/7		hmmpanther:PTHR10654:SF19,hmmpanther:PTHR10654																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	56452958	56452958	G	A	1	0	0	0	0	0	0	0	1	2382	991	35	3		3	CASS4	20	56452958	Silent	SNP	G	C3L-00144_TP	3199116	56452958	7991209	1673	5952											
BHLHE23	0	.	GRCh38	chr20	63006129	63006129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcagggcagggccccaGggcggcgcctgcggagaagg	6	4	19	12	3	1	1	1	0	0	1	1	2	1	1	3	6	1	1	3	6	1	1	rs746566653,rs780915763		C3L-00144_TP	C3L-00144_NB	G	G																c.646C>A	p.Leu216Met	p.L216M	ENST00000612929	1/1	124	103	21	129	128	1	strelka-varscan-mutect	BHLHE23,missense_variant,p.Leu216Met,ENST00000612929,NM_080606.3;BHLHE23,missense_variant,p.Leu200Met,ENST00000370346,;RP11-305P22.9,upstream_gene_variant,,ENST00000607802,;RP11-305P22.9,upstream_gene_variant,,ENST00000606208,;	T	ENST00000612929	Transcript	missense_variant	907/1109	646/726	216/241	L/M	Ctg/Atg	rs746566653,rs780915763	1		-1	BHLHE23	HGNC	HGNC:16093	protein_coding	YES	CCDS33507.2	ENSP00000480998		A0A087WXG3	UPI00024D1415	NM_080606.3	deleterious(0.01)		1/1		hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF53																	MODERATE		SNV				1										PASS		rs746566653	.												T	3	4	12	63006129	63006129	G	T	1	0	0	0	0	1	0	0	0	1570	991	35	2		2	BHLHE23	20	63006129	Missense_Mutation	SNP	G	C3L-00144_TP	6553171	63006129	1438038	1674	5953											
BIRC7	0	.	GRCh38	chr20	63236116	63236116	+	Missense_Mutation	SNP	C	C	A																															catgggacctaaagacagtgCcaagtgcctgcaccgtggac																								rs559914820		C3L-00144_TP	C3L-00144_NB	C	C																c.20C>A	p.Ala7Asp	p.A7D	ENST00000217169	1/7	75	60	15	47	47	0	strelka-varscan-mutect	BIRC7,missense_variant,p.Ala7Asp,ENST00000217169,NM_139317.2;BIRC7,missense_variant,p.Ala7Asp,ENST00000342412,NM_022161.3;NKAIN4,downstream_gene_variant,,ENST00000370316,NM_152864.3;NKAIN4,downstream_gene_variant,,ENST00000370313,;BIRC7,upstream_gene_variant,,ENST00000395306,;MIR3196,upstream_gene_variant,,ENST00000579556,;	A	ENST00000217169	Transcript	missense_variant	234/1368	20/897	7/298	A/D	gCc/gAc	rs559914820	1		1	BIRC7	HGNC	HGNC:13702	protein_coding	YES	CCDS13513.1	ENSP00000217169	Q96CA5		UPI00001269A6	NM_139317.2	deleterious(0.02)		1/7		hmmpanther:PTHR10044:SF109,hmmpanther:PTHR10044																	MODERATE	1	SNV	1			1										PASS		rs559914820	.												A	3	1	12	63236116	63236116	C	A	1	0	0	0	0	1	0	0	0	1590	739	26	2		2	BIRC7	20	63236116	Missense_Mutation	SNP	C	C3L-00144_TP	229987	63236116	1208051	1675	5954	135	2									
BIRC7	0	.	GRCh38	chr20	63236117	63236117	+	Silent	SNP	C	C	T																															atgggacctaaagacagtgcCaagtgcctgcaccgtggacc																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.21C>T	p.=	p.A7A	ENST00000217169	1/7	75	60	15	46	46	0	strelka-varscan-mutect	BIRC7,synonymous_variant,p.=,ENST00000217169,NM_139317.2;BIRC7,synonymous_variant,p.=,ENST00000342412,NM_022161.3;NKAIN4,downstream_gene_variant,,ENST00000370316,NM_152864.3;NKAIN4,downstream_gene_variant,,ENST00000370313,;BIRC7,upstream_gene_variant,,ENST00000395306,;MIR3196,upstream_gene_variant,,ENST00000579556,;	T	ENST00000217169	Transcript	synonymous_variant	235/1368	21/897	7/298	A	gcC/gcT		1		1	BIRC7	HGNC	HGNC:13702	protein_coding	YES	CCDS13513.1	ENSP00000217169	Q96CA5		UPI00001269A6	NM_139317.2			1/7		hmmpanther:PTHR10044:SF109,hmmpanther:PTHR10044																	LOW	1	SNV	1			1										PASS		rs1387445825	.												T	2	4	12	63236117	63236117	C	T	1	0	0	0	0	0	0	0	1	1590	581	21	3		3	BIRC7	20	63236117	Silent	SNP	C	C3L-00144_TP	1	63236117	1208050	1676	5955	135	2									
HELZ2	0	.	GRCh38	chr20	63565242	63565242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctcttcctcttcagcaCgcccagcacgcggccccgaa	6	7	9	19	4	3	0	1	0	2	0	4	1	4	0	5	1	3	2	5	1	1	2	rs749056408		C3L-00144_TP	C3L-00144_NB	C	C																c.3580G>T	p.Val1194Leu	p.V1194L	ENST00000467148	8/19	331	281	50	260	260	0	strelka-varscan-mutect	HELZ2,missense_variant,p.Val1194Leu,ENST00000467148,NM_001037335.2;HELZ2,missense_variant,p.Val625Leu,ENST00000427522,NM_033405.3;HELZ2,downstream_gene_variant,,ENST00000479540,;HELZ2,upstream_gene_variant,,ENST00000478861,;HELZ2,downstream_gene_variant,,ENST00000454223,;HELZ2,downstream_gene_variant,,ENST00000370082,;	A	ENST00000467148	Transcript	missense_variant	3650/8064	3580/7950	1194/2649	V/L	Gtg/Ttg	rs749056408	1		-1	HELZ2	HGNC	HGNC:30021	protein_coding	YES	CCDS33508.1	ENSP00000417401	Q9BYK8		UPI0000246BF7	NM_001037335.2	deleterious(0.01)		8/19		Low_complexity_(Seg):seg,Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1										PASS		rs749056408	.												A	3	1	12	63565242	63565242	C	A	1	0	0	0	0	1	0	0	0	6932	536	19	1		1	HELZ2	20	63565242	Missense_Mutation	SNP	C	C3L-00144_TP	329125	63565242	878925	1677	5956											
PCMTD2	0	.	GRCh38	chr20	64260239	64260239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacctgggcagtggcactGggtatctcagctccatggtg	7	10	14	10	0	1	1	1	1	1	0	3	1	2	1	2	4	2	4	2	4	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.274G>T	p.Gly92Trp	p.G92W	ENST00000308824	2/6	156	121	35	132	132	0	strelka-varscan-mutect	PCMTD2,missense_variant,p.Gly92Trp,ENST00000308824,NM_018257.2;PCMTD2,missense_variant,p.Gly92Trp,ENST00000369758,NM_001104925.1;PCMTD2,missense_variant,p.Gly92Trp,ENST00000299468,;PCMTD2,missense_variant,p.Gly92Trp,ENST00000609764,;PCMTD2,missense_variant,p.Gly92Trp,ENST00000610074,;PCMTD2,missense_variant,p.Gly92Trp,ENST00000610196,;PCMTD2,intron_variant,,ENST00000609372,;PCMTD2,downstream_gene_variant,,ENST00000609297,;PCMTD2,missense_variant,p.Gly53Trp,ENST00000608844,;	T	ENST00000308824	Transcript	missense_variant	401/3843	274/1086	92/361	G/W	Ggg/Tgg		1		1	PCMTD2	HGNC	HGNC:15882	protein_coding	YES	CCDS13559.1	ENSP00000307854	Q9NV79		UPI0000049C88	NM_018257.2	deleterious(0)		2/6		Gene3D:3.40.50.150,Pfam_domain:PF01135,hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF2,Superfamily_domains:SSF53335																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	64260239	64260239	G	T	1	0	0	0	0	1	0	0	0	11675	1348	47	2		2	PCMTD2	20	64260239	Missense_Mutation	SNP	G	C3L-00144_TP	694997	64260239	183928	1678	5957											
AF165138.7	0	.	GRCh38	chr21	14643093	14643093	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcttggttagcttgtTgctctgggattggctcatat	4	20	11	6	0	3	0	1	0	2	0	3	1	3	1	0	3	2	6	0	3	2	8	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.41A>C	p.Gln14Pro	p.Q14P	ENST00000435732	1/7	193	176	17	171	171	0	strelka-varscan-mutect	AF165138.7,missense_variant,p.Gln14Pro,ENST00000435732,NM_001256579.2;AF165138.7,missense_variant,p.Gln22Pro,ENST00000400562,;	G	ENST00000435732	Transcript	missense_variant	41/1151	41/459	14/152	Q/P	cAa/cCa		1		-1	AF165138.7	Clone_based_vega_gene		protein_coding	YES		ENSP00000401381		H7C1N6	UPI0004620D9C	NM_001256579.2	deleterious(0.02)		1/7																			MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	12	14643093	14643093	T	G	1	0	0	0	0	1	0	0	0	429	1812	63	5		5	AF165138.7	21	14643093	Missense_Mutation	SNP	T	C3L-00144_TP		14643093	32066890	1679	5958											
TMPRSS15	0	.	GRCh38	chr21	18332165	18332165	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagctcaaaaggtcctcCacagtccgctgaaaaggaaa	15	5	8	13	1	1	1	1	1	0	0	4	2	4	2	4	2	1	2	4	2	5	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1573G>T	p.Gly525Ter	p.G525*	ENST00000284885	14/25	397	365	32	377	377	0	strelka-varscan-mutect	TMPRSS15,stop_gained,p.Gly525Ter,ENST00000284885,NM_002772.2;	A	ENST00000284885	Transcript	stop_gained	1607/3947	1573/3060	525/1019	G/*	Gga/Tga		1		-1	TMPRSS15	HGNC	HGNC:9490	protein_coding	YES	CCDS13571.1	ENSP00000284885	P98073		UPI000013DDBE	NM_002772.2			14/25		PROSITE_profiles:PS01180,Pfam_domain:PF00431,PIRSF_domain:PIRSF001138,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	18332165	18332165	C	A	1	0	0	0	0	0	1	0	0	16722	603	21	2		2	TMPRSS15	21	18332165	Nonsense_Mutation	SNP	C	C3L-00144_TP	3689072	18332165	28377818	1680	5959											
ADAMTS5	0	.	GRCh38	chr21	26924277	26924277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgacagagtttacttttgGagtggacttcttgggaacaa	11	13	12	5	0	1	2	0	1	1	1	1	5	1	5	0	3	2	1	0	3	3	6	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2569C>A	p.Pro857Thr	p.P857T	ENST00000284987	8/8	237	200	37	208	207	1	strelka-varscan-mutect	ADAMTS5,missense_variant,p.Pro857Thr,ENST00000284987,NM_007038.3;AP001601.2,intron_variant,,ENST00000426771,;	T	ENST00000284987	Transcript	missense_variant	2691/9056	2569/2793	857/930	P/T	Cca/Aca		1		-1	ADAMTS5	HGNC	HGNC:221	protein_coding	YES	CCDS13579.1	ENSP00000284987	Q9UNA0		UPI00001AEAC2	NM_007038.3	tolerated(0.48)		8/8		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF37																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	26924277	26924277	G	T	1	0	0	0	0	1	0	0	0	313	1174	41	2		2	ADAMTS5	21	26924277	Missense_Mutation	SNP	G	C3L-00144_TP	8592112	26924277	19785706	1681	5960											
ADAMTS5	0	.	GRCh38	chr21	26965625	26965625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcggcgccgccgccgcCaccacgtctgcggtcctgag	4	5	15	17	7	1	1	0	1	1	0	2	2	2	2	6	3	2	0	6	3	0	0	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.767G>T	p.Trp256Leu	p.W256L	ENST00000284987	1/8	103	76	27	118	118	0	strelka-varscan-mutect	ADAMTS5,missense_variant,p.Trp256Leu,ENST00000284987,NM_007038.3;	A	ENST00000284987	Transcript	missense_variant	889/9056	767/2793	256/930	W/L	tGg/tTg		1		-1	ADAMTS5	HGNC	HGNC:221	protein_coding	YES	CCDS13579.1	ENSP00000284987	Q9UNA0		UPI00001AEAC2	NM_007038.3	tolerated(0.52)		1/8		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF37																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	26965625	26965625	C	A	1	0	0	0	0	1	0	0	0	313	595	21	2		2	ADAMTS5	21	26965625	Missense_Mutation	SNP	C	C3L-00144_TP	41348	26965625	19744358	1682	5961											
GRIK1	0	.	GRCh38	chr21	29577145	29577145	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaccatatccctccaactAttctggtcgatagagctttg	10	12	6	13	1	1	1	0	0	1	1	4	2	3	1	4	1	2	1	4	1	4	5	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1949T>A	p.Ile650Lys	p.I650K	ENST00000399907	14/17	165	134	31	152	152	0	strelka-varscan-mutect	GRIK1,missense_variant,p.Ile635Lys,ENST00000399914,;GRIK1,missense_variant,p.Ile650Lys,ENST00000399907,NM_000830.3;GRIK1,missense_variant,p.Ile635Lys,ENST00000399909,;GRIK1,missense_variant,p.Ile650Lys,ENST00000399913,;GRIK1,missense_variant,p.Ile650Lys,ENST00000327783,;GRIK1,missense_variant,p.Ile635Lys,ENST00000389125,NM_175611.2;GRIK1,missense_variant,p.Ile650Lys,ENST00000389124,;BACH1,intron_variant,,ENST00000422809,;BACH1,intron_variant,,ENST00000468059,;	T	ENST00000399907	Transcript	missense_variant	2361/3472	1949/2757	650/918	I/K	aTa/aAa		1		-1	GRIK1	HGNC	HGNC:4579	protein_coding	YES	CCDS42913.1	ENSP00000382791	P39086		UPI000012B612	NM_000830.3	deleterious(0)		14/17		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079,Prints_domain:PR00177																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	29577145	29577145	A	T	1	0	0	0	0	1	0	0	0	6655	449	16	4		4	GRIK1	21	29577145	Missense_Mutation	SNP	A	C3L-00144_TP	2611520	29577145	17132838	1683	5962											
KRTAP6-3	0	.	GRCh38	chr21	30592676	30592676	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctacagaggcctggaCtgtggctatggctgtggcta	6	11	16	8	0	0	1	0	0	0	1	0	2	0	2	1	6	1	4	1	6	3	3			C3L-00144_TP	C3L-00144_NB	C	C																c.231C>A	p.Asp77Glu	p.D77E	ENST00000391624	1/1	278	234	44	252	252	0	strelka-varscan-mutect	KRTAP6-3,missense_variant,p.Asp77Glu,ENST00000391624,NM_181605.3;KRTAP22-2,upstream_gene_variant,,ENST00000382830,NM_001164434.1;	A	ENST00000391624	Transcript	missense_variant	237/636	231/333	77/110	D/E	gaC/gaA	COSM1662531	1		1	KRTAP6-3	HGNC	HGNC:18933	protein_coding	YES	CCDS77622.1	ENSP00000375482	Q3LI67		UPI00003D4D73	NM_181605.3			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR31678,hmmpanther:PTHR31678:SF4											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	12	30592676	30592676	C	A	1	0	0	0	0	1	0	0	0	8466	564	20	2		2	KRTAP6-3	21	30592676	Missense_Mutation	SNP	C	C3L-00144_TP	1015531	30592676	16117307	1684	5963											
ITSN1	0	.	GRCh38	chr21	33888192	33888192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgtgtggcggacatcaaGaaagaccagggctccaaagg	13	5	13	10	2	1	2	1	0	0	2	3	3	3	3	3	4	0	1	3	4	3	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.5058G>T	p.Lys1686Asn	p.K1686N	ENST00000381318	40/40	143	101	42	100	100	0	strelka-varscan-mutect	ITSN1,missense_variant,p.Lys1686Asn,ENST00000381318,NM_003024.2;ITSN1,missense_variant,p.Lys1681Asn,ENST00000399367,;ITSN1,3_prime_UTR_variant,,ENST00000381285,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,downstream_gene_variant,,ENST00000381284,;ITSN1,downstream_gene_variant,,ENST00000415023,;ITSN1,downstream_gene_variant,,ENST00000420666,;	T	ENST00000381318	Transcript	missense_variant	5346/17015	5058/5166	1686/1721	K/N	aaG/aaT		1		1	ITSN1	HGNC	HGNC:6183	protein_coding	YES	CCDS33545.1	ENSP00000370719	Q15811		UPI00001403C6	NM_003024.2	deleterious(0.01)		40/40		Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	33888192	33888192	G	T	1	0	0	0	0	1	0	0	0	7832	933	33	2		2	ITSN1	21	33888192	Missense_Mutation	SNP	G	C3L-00144_TP	3295516	33888192	12821791	1685	5964											
KCNJ6	0	.	GRCh38	chr21	37625397	37625397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtagtcaacttcgtagaacCcgtcctccagggtcaggaca	10	9	10	12	2	2	1	2	0	0	1	5	2	4	2	3	2	2	2	3	2	4	3			C3L-00144_TP	C3L-00144_NB	C	C																c.1034G>T	p.Gly345Val	p.G345V	ENST00000609713	4/4	304	237	67	275	275	0	strelka-varscan-mutect	KCNJ6,missense_variant,p.Gly345Val,ENST00000609713,NM_002240.3;	A	ENST00000609713	Transcript	missense_variant	1624/19645	1034/1272	345/423	G/V	gGg/gTg	COSM3912083	1		-1	KCNJ6	HGNC	HGNC:6267	protein_coding	YES	CCDS42927.1	ENSP00000477437	P48051		UPI0000000B10	NM_002240.3	deleterious(0)		4/4		hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF19,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	37625397	37625397	C	A	1	0	0	0	0	1	0	0	0	7972	623	22	2		2	KCNJ6	21	37625397	Missense_Mutation	SNP	C	C3L-00144_TP	3737205	37625397	9084586	1686	5965											
ETS2	0	.	GRCh38	chr21	38819653	38819653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaagatgactgcagccagtCtctctgcctcaataagccaa	12	8	8	13	1	3	2	1	1	2	1	4	3	3	2	3	0	4	1	3	0	4	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.962C>T	p.Ser321Phe	p.S321F	ENST00000360214	9/11	555	514	41	453	452	1	strelka-varscan-mutect	ETS2,missense_variant,p.Ser321Phe,ENST00000360214,NM_001256295.1;ETS2,missense_variant,p.Ser321Phe,ENST00000360938,NM_005239.5;ETS2,downstream_gene_variant,,ENST00000432278,;ETS2,downstream_gene_variant,,ENST00000456966,;	T	ENST00000360214	Transcript	missense_variant	1422/3936	962/1410	321/469	S/F	tCt/tTt		1		1	ETS2	HGNC	HGNC:3489	protein_coding	YES	CCDS13659.1	ENSP00000353344	P15036		UPI0000000E04	NM_001256295.1	tolerated(0.08)		9/11		PIRSF_domain:PIRSF001698,PIRSF_domain:PIRSF501032																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	38819653	38819653	C	T	1	0	0	0	0	1	0	0	0	5140	913	32	3		3	ETS2	21	38819653	Missense_Mutation	SNP	C	C3L-00144_TP	1194256	38819653	7890330	1687	5966											
DSCAM	0	.	GRCh38	chr21	40347713	40347713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgagcggacagcttgtcCttgcgcacaaagcactggta	9	10	11	11	2	1	1	0	1	1	0	2	2	2	2	1	2	4	4	1	2	2	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1167G>T	p.Lys389Asn	p.K389N	ENST00000400454	6/33	239	196	43	217	217	0	strelka-varscan-mutect	DSCAM,missense_variant,p.Lys389Asn,ENST00000400454,NM_001389.3,NM_001271534.1;DSCAM,missense_variant,p.Lys224Asn,ENST00000617870,;DSCAM,missense_variant,p.Lys141Asn,ENST00000404019,;	A	ENST00000400454	Transcript	missense_variant	1645/8552	1167/6039	389/2012	K/N	aaG/aaT		1		-1	DSCAM	HGNC	HGNC:3039	protein_coding	YES	CCDS42929.1	ENSP00000383303	O60469		UPI00000422DF	NM_001389.3,NM_001271534.1	tolerated(0.67)		6/33		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	40347713	40347713	C	A	1	0	0	0	0	1	0	0	0	4589	680	24	2		2	DSCAM	21	40347713	Missense_Mutation	SNP	C	C3L-00144_TP	1528060	40347713	6362270	1688	5967											
RIPK4	0	.	GRCh38	chr21	41741506	41741506	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttgccctgcaggctcaCgtccacgcctcggcgcagca	6	7	10	18	4	1	0	1	0	0	0	4	0	3	0	4	2	3	4	4	2	0	1	rs148030694		C3L-00144_TP	C3L-00144_NB	C	C																c.1687G>C	p.Val563Leu	p.V563L	ENST00000332512	8/8	138	110	28	132	132	0	strelka-varscan-mutect	RIPK4,missense_variant,p.Val611Leu,ENST00000352483,;RIPK4,missense_variant,p.Val563Leu,ENST00000332512,NM_020639.2;AP001615.9,downstream_gene_variant,,ENST00000423276,;	G	ENST00000332512	Transcript	missense_variant	1752/3889	1687/2355	563/784	V/L	Gtg/Ctg	rs148030694	1		-1	RIPK4	HGNC	HGNC:496	protein_coding	YES	CCDS13675.1	ENSP00000332454	P57078		UPI000002A3C9	NM_020639.2	tolerated(0.52)		8/8		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24198,hmmpanther:PTHR24198:SF65,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs148030694	.												G	3	3	12	41741506	41741506	C	G	1	0	0	0	0	1	0	0	0	13557	536	19	4		4	RIPK4	21	41741506	Missense_Mutation	SNP	C	C3L-00144_TP	1393793	41741506	4968477	1689	5968											
ZBTB21	0	.	GRCh38	chr21	41992163	41992163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactctgtccctgaaaacCaggcttgccgcgccttaact	8	10	8	15	2	1	1	0	1	1	0	2	1	2	1	4	1	4	2	4	1	4	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1933G>A	p.Gly645Ser	p.G645S	ENST00000310826	3/3	244	189	55	203	203	0	strelka-varscan-mutect	ZBTB21,missense_variant,p.Gly645Ser,ENST00000310826,NM_001320731.1,NM_001098402.1;ZBTB21,missense_variant,p.Gly645Ser,ENST00000398499,;ZBTB21,missense_variant,p.Gly645Ser,ENST00000398511,NM_020727.4;ZBTB21,intron_variant,,ENST00000398505,NM_001320729.1,NM_001098403.1;ZBTB21,downstream_gene_variant,,ENST00000425521,;ZBTB21,downstream_gene_variant,,ENST00000398497,;ZBTB21,downstream_gene_variant,,ENST00000449949,;ZBTB21,intron_variant,,ENST00000465968,;	T	ENST00000310826	Transcript	missense_variant	2117/7449	1933/3201	645/1066	G/S	Ggt/Agt		1		-1	ZBTB21	HGNC	HGNC:13083	protein_coding	YES	CCDS13678.1	ENSP00000308759	Q9ULJ3		UPI000013C34D	NM_001320731.1,NM_001098402.1	tolerated(0.06)		3/3																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	41992163	41992163	C	T	1	0	0	0	0	1	0	0	0	18098	594	21	3		3	ZBTB21	21	41992163	Missense_Mutation	SNP	C	C3L-00144_TP	250657	41992163	4717820	1690	5969											
AIRE	0	.	GRCh38	chr21	44294426	44294426	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcgctgcagatcctgcTcaggagacgtgaccccagcc	7	6	12	16	2	1	3	1	1	0	2	2	4	2	3	5	1	4	3	5	1	0	0	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1426T>A	p.Ser476Thr	p.S476T	ENST00000291582	12/14	96	88	8	99	99	0	strelka-varscan-mutect	AIRE,missense_variant,p.Ser476Thr,ENST00000291582,NM_000383.3;AIRE,non_coding_transcript_exon_variant,,ENST00000530812,;AIRE,non_coding_transcript_exon_variant,,ENST00000527919,;AIRE,non_coding_transcript_exon_variant,,ENST00000337909,;AIRE,non_coding_transcript_exon_variant,,ENST00000397994,;	A	ENST00000291582	Transcript	missense_variant	1553/2257	1426/1638	476/545	S/T	Tca/Aca		1		1	AIRE	HGNC	HGNC:360	protein_coding	YES	CCDS13706.1	ENSP00000291582	O43918		UPI0000030FA6	NM_000383.3	tolerated(0.13)		12/14		Gene3D:3.30.40.10,hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF15,SMART_domains:SM00249,Superfamily_domains:SSF57903																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	44294426	44294426	T	A	1	0	0	0	0	1	0	0	0	514	1551	54	4		4	AIRE	21	44294426	Missense_Mutation	SNP	T	C3L-00144_TP	2302263	44294426	2415557	1691	5970											
KRTAP10-4	0	.	GRCh38	chr21	44574306	44574306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagctgtgtgagctgtgtgtCcagcccctgctgccaggcgg	4	10	15	12	1	0	1	0	1	0	0	1	1	1	1	4	2	5	3	4	2	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.548C>A	p.Ser183Tyr	p.S183Y	ENST00000400374	1/1	645	545	100	705	704	1	strelka-varscan-mutect	KRTAP10-4,missense_variant,p.Ser183Tyr,ENST00000400374,NM_198687.2;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,upstream_gene_variant,,ENST00000397916,;	A	ENST00000400374	Transcript	missense_variant	578/1643	548/1206	183/401	S/Y	tCc/tAc		1		1	KRTAP10-4	HGNC	HGNC:20521	protein_coding	YES	CCDS42957.1	ENSP00000383225	P60372		UPI00003D4D6E	NM_198687.2	tolerated(0.18)		1/1		Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												A	3	1	12	44574306	44574306	C	A	1	0	0	0	0	1	0	0	0	8394	855	30	2		2	KRTAP10-4	21	44574306	Missense_Mutation	SNP	C	C3L-00144_TP	279880	44574306	2135677	1692	5971											
KRTAP10-6	0	.	GRCh38	chr21	44592464	44592464	+	Silent	SNP	G	G	A																															ctcaggtcgctggagcagacGgacatggtggacgcggccat																								rs201582050		C3L-00144_TP	C3L-00144_NB	G	G																c.21C>T	p.=	p.S7S	ENST00000400368	1/1	53	46	7	72	72	0	strelka-varscan	KRTAP10-6,synonymous_variant,p.=,ENST00000400368,NM_198688.3;KRTAP10-6,synonymous_variant,p.=,ENST00000622352,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;	A	ENST00000400368	Transcript	synonymous_variant	42/1238	21/1098	7/365	S	tcC/tcT	rs201582050	1		-1	KRTAP10-6	HGNC	HGNC:20523	protein_coding	YES	CCDS42959.1	ENSP00000383219	P60371		UPI000021C43D	NM_198688.3			1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF72																	LOW		SNV				1										PASS		.	.												A	2	1	12	44592464	44592464	G	A	1	0	0	0	0	0	0	0	1	8396	1103	39	1		1	KRTAP10-6	21	44592464	Silent	SNP	G	C3L-00144_TP	18158	44592464	2117519	1693	5972	136	2									
KRTAP10-6	0	.	GRCh38	chr21	44592470	44592470	+	Silent	SNP	G	G	A																															tcgctggagcagacggacatGgtggacgcggccatgctggg																								rs782703375		C3L-00144_TP	C3L-00144_NB	G	G																c.15C>T	p.=	p.T5T	ENST00000400368	1/1	52	46	6	63	62	1	varscan-mutect	KRTAP10-6,synonymous_variant,p.=,ENST00000400368,NM_198688.3;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;KRTAP10-6,upstream_gene_variant,,ENST00000622352,;	A	ENST00000400368	Transcript	synonymous_variant	36/1238	15/1098	5/365	T	acC/acT	rs782703375,COSM4594715	1		-1	KRTAP10-6	HGNC	HGNC:20523	protein_coding	YES	CCDS42959.1	ENSP00000383219	P60371		UPI000021C43D	NM_198688.3			1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF72											0,1						LOW		SNV			0,1	1										PASS		rs782703375	.												A	2	1	12	44592470	44592470	G	A	1	0	0	0	0	0	0	0	1	8396	1335	47	3		3	KRTAP10-6	21	44592470	Silent	SNP	G	C3L-00144_TP	6	44592470	2117513	1694	5973	136	2									
FTCD	0	.	GRCh38	chr21	46145441	46145441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcggtgaaggcctcggcGtcggcatccaccagcgtggt	6	7	16	12	5	0	1	0	1	0	0	3	1	1	1	3	6	1	1	3	6	2	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1236C>A	p.Asp412Glu	p.D412E	ENST00000291670	10/15	104	81	23	95	95	0	strelka-varscan-mutect	FTCD,missense_variant,p.Asp412Glu,ENST00000397748,NM_001320412.1;FTCD,missense_variant,p.Asp412Glu,ENST00000291670,NM_006657.2;FTCD,missense_variant,p.Asp412Glu,ENST00000397746,NM_206965.1;FTCD,missense_variant,p.Asp412Glu,ENST00000397743,;FTCD,non_coding_transcript_exon_variant,,ENST00000498355,;FTCD,non_coding_transcript_exon_variant,,ENST00000488577,;FTCD,upstream_gene_variant,,ENST00000460011,;FTCD,upstream_gene_variant,,ENST00000494498,;FTCD,downstream_gene_variant,,ENST00000480950,;FTCD,downstream_gene_variant,,ENST00000469240,;	T	ENST00000291670	Transcript	missense_variant	1280/1905	1236/1626	412/541	D/E	gaC/gaA		1		-1	FTCD	HGNC	HGNC:3974	protein_coding	YES	CCDS13731.1	ENSP00000291670	O95954		UPI000012AC75	NM_006657.2	deleterious(0)		10/15		Superfamily_domains:0041691,Pfam_domain:PF04961,hmmpanther:PTHR12234,hmmpanther:PTHR12234:SF0																	MODERATE	1	SNV	1			1										PASS		rs1183507055	.												T	3	4	12	46145441	46145441	G	T	1	0	0	0	0	1	0	0	0	5955	1136	40	1		1	FTCD	21	46145441	Missense_Mutation	SNP	G	C3L-00144_TP	1552971	46145441	564542	1695	5974											
PCNT	0	.	GRCh38	chr21	46349180	46349180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttttcaagacaaaaaccagGctgaacgtaagtaatgaaaa	19	9	7	6	1	1	3	1	2	0	1	1	3	1	3	1	1	2	3	1	1	8	4	rs149949585		C3L-00144_TP	C3L-00144_NB	G	G																c.1201G>C	p.Ala401Pro	p.A401P	ENST00000359568	7/47	331	306	25	272	272	0	strelka-varscan-mutect	PCNT,missense_variant,p.Ala401Pro,ENST00000359568,NM_006031.5;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,non_coding_transcript_exon_variant,,ENST00000490468,;PCNT,non_coding_transcript_exon_variant,,ENST00000466474,;PCNT,non_coding_transcript_exon_variant,,ENST00000483844,;	C	ENST00000359568	Transcript	missense_variant	1308/10560	1201/10011	401/3336	A/P	Gct/Cct	rs149949585	1		1	PCNT	HGNC	HGNC:16068	protein_coding	YES	CCDS33592.1	ENSP00000352572	O95613		UPI00001AEB88	NM_006031.5	deleterious(0.01)		7/47		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		rs149949585	.												C	3	2	12	46349180	46349180	G	C	1	0	0	0	0	1	0	0	0	11678	1203	42	4		4	PCNT	21	46349180	Missense_Mutation	SNP	G	C3L-00144_TP	203739	46349180	360803	1696	5975											
CCT8L2	0	.	GRCh38	chr22	16592153	16592153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgtggcgtaggcctccCggagctgcgggcgaggcagg	4	5	20	12	5	0	0	0	0	0	0	1	2	1	1	3	7	2	3	3	7	1	1	rs149623775		C3L-00144_TP	C3L-00144_NB	C	C																c.398G>T	p.Arg133Leu	p.R133L	ENST00000359963	1/1	144	107	37	136	136	0	strelka-varscan-mutect	CCT8L2,missense_variant,p.Arg133Leu,ENST00000359963,NM_014406.4;FABP5P11,downstream_gene_variant,,ENST00000430910,;	A	ENST00000359963	Transcript	missense_variant	658/2060	398/1674	133/557	R/L	cGg/cTg	rs149623775,COSM1200213	1		-1	CCT8L2	HGNC	HGNC:15553	protein_coding	YES	CCDS13738.1	ENSP00000353048	Q96SF2		UPI000006CF87	NM_014406.4	tolerated(1)		1/1		Gene3D:1.10.560.10,Pfam_domain:PF00118,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF100,Superfamily_domains:SSF48592											0,1						MODERATE	1	SNV			0,1	1										PASS		rs149623775	.												A	3	1	12	16592153	16592153	C	A	1	0	0	0	0	1	0	0	0	2662	652	23	1		1	CCT8L2	22	16592153	Missense_Mutation	SNP	C	C3L-00144_TP		16592153	34226315	1697	5976											
GAB4	0	.	GRCh38	chr22	16988109	16988109	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctgatgggagcagctGggctcagctggagaagagca	10	6	18	7	0	1	3	1	1	0	2	1	5	1	4	0	4	5	6	0	4	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.537C>A	p.=	p.P179P	ENST00000400588	3/10	124	88	36	95	94	1	strelka-varscan-mutect	GAB4,synonymous_variant,p.=,ENST00000400588,NM_001037814.1;AC006548.28,non_coding_transcript_exon_variant,,ENST00000623130,;GAB4,intron_variant,,ENST00000523144,;GAB4,synonymous_variant,p.=,ENST00000465611,;	T	ENST00000400588	Transcript	synonymous_variant	645/2630	537/1725	179/574	P	ccC/ccA		1		-1	GAB4	HGNC	HGNC:18325	protein_coding	YES	CCDS42976.1	ENSP00000383431	Q2WGN9		UPI00002326B5	NM_001037814.1			3/10		hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF20																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	16988109	16988109	G	T	1	0	0	0	0	0	0	0	1	6022	1335	47	2		2	GAB4	22	16988109	Silent	SNP	G	C3L-00144_TP	395956	16988109	33830359	1698	5977											
IL17RA	0	.	GRCh38	chr22	17102148	17102148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccttggcaggcagcctgtGggaccccaacatcaccgtgg	8	6	13	14	1	1	0	1	0	0	0	1	2	1	1	5	4	2	2	5	4	1	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.608G>T	p.Trp203Leu	p.W203L	ENST00000319363	7/13	621	472	149	566	565	1	strelka-varscan-mutect	IL17RA,missense_variant,p.Trp203Leu,ENST00000319363,NM_014339.6;IL17RA,missense_variant,p.Trp203Leu,ENST00000612619,NM_001289905.1;IL17RA,downstream_gene_variant,,ENST00000477874,;IL17RA,downstream_gene_variant,,ENST00000459971,;	T	ENST00000319363	Transcript	missense_variant	741/8607	608/2601	203/866	W/L	tGg/tTg		1		1	IL17RA	HGNC	HGNC:5985	protein_coding	YES	CCDS13739.1	ENSP00000320936	Q96F46		UPI000005031F	NM_014339.6	deleterious(0)		7/13		Pfam_domain:PF16578,hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	17102148	17102148	G	T	1	0	0	0	0	1	0	0	0	7547	1357	47	2		2	IL17RA	22	17102148	Missense_Mutation	SNP	G	C3L-00144_TP	114039	17102148	33716320	1699	5978											
CECR1	0	.	GRCh38	chr22	17209633	17209633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacattgccacagccaacagCaagaagcacagggctggccg	13	3	12	13	1	0	1	0	0	0	1	0	2	0	1	3	2	5	3	3	2	3	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.45G>T	p.Leu15Phe	p.L15F	ENST00000399837	2/10	136	110	26	120	120	0	strelka-varscan-mutect	CECR1,missense_variant,p.Leu15Phe,ENST00000399837,NM_001282226.1,NM_001282225.1;CECR1,missense_variant,p.Leu15Phe,ENST00000399839,;CECR1,missense_variant,p.Leu15Phe,ENST00000262607,;CECR1,missense_variant,p.Leu15Phe,ENST00000441548,;CECR1,missense_variant,p.Leu15Phe,ENST00000543038,;CECR1,intron_variant,,ENST00000449907,NM_001282228.1,NM_001282227.1;CECR1,intron_variant,,ENST00000610390,NM_001282229.1;FAM32BP,upstream_gene_variant,,ENST00000344033,;	A	ENST00000399837	Transcript	missense_variant	321/4505	45/1536	15/511	L/F	ttG/ttT		1		-1	CECR1	HGNC	HGNC:1839	protein_coding	YES	CCDS13742.1	ENSP00000382731	Q9NZK5		UPI000013D2E8	NM_001282226.1,NM_001282225.1	tolerated(0.09)		2/10		Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	17209633	17209633	C	A	1	0	0	0	0	1	0	0	0	2912	709	25	2		2	CECR1	22	17209633	Missense_Mutation	SNP	C	C3L-00144_TP	107485	17209633	33608835	1700	5979											
MICAL3	0	.	GRCh38	chr22	17900853	17900853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccaacctgtggcttccCtcagttcctggaaaaatttt	11	12	6	12	0	1	0	1	0	0	0	3	1	3	1	4	2	2	2	4	2	4	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.836G>T	p.Arg279Met	p.R279M	ENST00000441493	6/32	162	128	34	147	147	0	strelka-varscan-mutect	MICAL3,missense_variant,p.Arg279Met,ENST00000441493,NM_015241.2;MICAL3,missense_variant,p.Arg279Met,ENST00000414725,;MICAL3,missense_variant,p.Arg279Met,ENST00000585038,NM_001136004.3;MICAL3,missense_variant,p.Arg279Met,ENST00000400561,NM_001122731.2;MICAL3,missense_variant,p.Arg279Met,ENST00000383094,;MICAL3,downstream_gene_variant,,ENST00000424046,;MICAL3,missense_variant,p.Arg279Met,ENST00000495076,;	A	ENST00000441493	Transcript	missense_variant	1189/9445	836/6009	279/2002	R/M	aGg/aTg		1		-1	MICAL3	HGNC	HGNC:24694	protein_coding	YES	CCDS46659.1	ENSP00000416015	Q7RTP6		UPI0001823FDE	NM_015241.2	deleterious(0)		6/32		hmmpanther:PTHR11915:SF239,hmmpanther:PTHR11915,Gene3D:3.50.50.60																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	17900853	17900853	C	A	1	0	0	0	0	1	0	0	0	9528	681	24	2		2	MICAL3	22	17900853	Missense_Mutation	SNP	C	C3L-00144_TP	691220	17900853	32917615	1701	5980											
RIMBP3	0	.	GRCh38	chr22	18608921	18608921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttgtagttatactgagcCatgaagatcttgagcttggg	9	13	14	5	0	1	4	0	3	1	1	1	4	1	4	1	2	3	4	1	2	4	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2514G>A	p.Met838Ile	p.M838I	ENST00000619918	1/1	166	147	19	152	152	0	varscan-mutect	RIMBP3,missense_variant,p.Met838Ile,ENST00000619918,NM_015672.1;SCARNA17,downstream_gene_variant,,ENST00000614296,;RN7SKP131,upstream_gene_variant,,ENST00000410698,;	T	ENST00000619918	Transcript	missense_variant	2999/6105	2514/4920	838/1639	M/I	atG/atA		1		-1	RIMBP3	HGNC	HGNC:29344	protein_coding	YES	CCDS46665.1	ENSP00000483386	Q9UFD9		UPI0000237729	NM_015672.1	tolerated(0.08)		1/1		Gene3D:2.30.30.40,PROSITE_profiles:PS50002,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF21,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	12	18608921	18608921	C	T	1	0	0	0	0	1	0	0	0	13539	594	21	3		3	RIMBP3	22	18608921	Missense_Mutation	SNP	C	C3L-00144_TP	708068	18608921	32209547	1702	5981											
CCDC188	0	.	GRCh38	chr22	20149586	20149586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggggacctaccaggaGcccggtggcctggttgttca	5	9	15	12	1	1	0	1	0	0	0	1	2	1	2	5	6	2	2	5	6	1	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.844C>A	p.Leu282Ile	p.L282I	ENST00000439765	5/9	308	254	54	267	267	0	strelka-varscan-mutect	CCDC188,missense_variant,p.Leu282Ile,ENST00000439765,;ZDHHC8,downstream_gene_variant,,ENST00000334554,NM_013373.3;ZDHHC8,downstream_gene_variant,,ENST00000405930,NM_001185024.1;ZDHHC8,downstream_gene_variant,,ENST00000320602,;CCDC188,non_coding_transcript_exon_variant,,ENST00000444532,;	T	ENST00000439765	Transcript	missense_variant	923/1475	844/1209	282/402	L/I	Ctc/Atc		1		-1	CCDC188	HGNC	HGNC:51899	protein_coding	YES		ENSP00000409542	H7C350		UPI000387C900		deleterious_low_confidence(0.01)		5/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22422:SF6,hmmpanther:PTHR22422,Pfam_domain:PF14992																	MODERATE		SNV	5			1										PASS		rs1314470133	.												T	3	4	12	20149586	20149586	G	T	1	0	0	0	0	1	0	0	0	2503	985	34	2		2	CCDC188	22	20149586	Missense_Mutation	SNP	G	C3L-00144_TP	1540665	20149586	30668882	1703	5982											
CCDC116	0	.	GRCh38	chr22	21635019	21635019	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaaagcgtggtcagccAggctgtggataagctccgtg	8	8	14	11	2	1	0	1	0	0	0	2	1	2	1	3	3	4	3	3	3	2	1	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.956A>T	p.Gln319Leu	p.Q319L	ENST00000292779	4/5	235	199	36	210	210	0	strelka-varscan-mutect	CCDC116,missense_variant,p.Gln319Leu,ENST00000292779,NM_152612.2;CCDC116,missense_variant,p.Gln319Leu,ENST00000607942,;YDJC,upstream_gene_variant,,ENST00000292778,NM_001017964.1;YDJC,upstream_gene_variant,,ENST00000398873,;CCDC116,downstream_gene_variant,,ENST00000425975,;YDJC,upstream_gene_variant,,ENST00000473985,;YDJC,upstream_gene_variant,,ENST00000468686,;YDJC,upstream_gene_variant,,ENST00000415762,;	T	ENST00000292779	Transcript	missense_variant	1117/2260	956/1842	319/613	Q/L	cAg/cTg		1		1	CCDC116	HGNC	HGNC:26688	protein_coding	YES	CCDS13791.1	ENSP00000292779	Q8IYX3		UPI00000741C9	NM_152612.2	deleterious(0)		4/5		hmmpanther:PTHR36861,Pfam_domain:PF15774																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	21635019	21635019	A	T	1	0	0	0	0	1	0	0	0	2446	188	7	4		4	CCDC116	22	21635019	Missense_Mutation	SNP	A	C3L-00144_TP	1485433	21635019	29183449	1704	5983											
RSPH14	0	.	GRCh38	chr22	23061841	23061841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtggcgaacatcagggcaCcggcagcgttagacttcaca	10	7	12	12	3	2	1	2	0	0	1	2	2	2	1	1	3	2	3	1	3	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.758G>T	p.Gly253Val	p.G253V	ENST00000216036	6/7	312	266	46	215	215	0	strelka-varscan-mutect	RSPH14,missense_variant,p.Gly253Val,ENST00000216036,NM_014433.2;	A	ENST00000216036	Transcript	missense_variant	955/1291	758/1047	253/348	G/V	gGt/gTt		1		-1	RSPH14	HGNC	HGNC:13437	protein_coding	YES	CCDS13803.1	ENSP00000216036	Q9UHP6		UPI000004A0CE	NM_014433.2	deleterious(0)		6/7		Gene3D:1.25.10.10,Pfam_domain:PF00514,hmmpanther:PTHR15599,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	23061841	23061841	C	A	1	0	0	0	0	1	0	0	0	13962	507	18	2		2	RSPH14	22	23061841	Missense_Mutation	SNP	C	C3L-00144_TP	1426822	23061841	27756627	1705	5984											
TMEM211	0	.	GRCh38	chr22	24935491	24935491	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtaaccccaacccagccGgcacttcccaccataataca	13	6	4	18	1	0	0	0	0	0	0	1	0	1	0	6	1	4	2	6	1	4	4			C3L-00144_TP	C3L-00144_NB	G	G																c.232C>A	p.=	p.R78R	ENST00000407886	4/4	268	214	54	201	200	1	strelka-varscan-mutect	TMEM211,synonymous_variant,p.=,ENST00000407886,NM_001001663.1;TMEM211,synonymous_variant,p.=,ENST00000423535,;	T	ENST00000407886	Transcript	synonymous_variant	485/866	232/390	78/129	R	Cgg/Agg	COSM1032781,COSM3357322	1		-1	TMEM211	HGNC	HGNC:33725	protein_coding	YES	CCDS33624.1	ENSP00000385494		A0A0C4DG04	UPI0000160696	NM_001001663.1			4/4		hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF20,Pfam_domain:PF10242											1,1						LOW	1	SNV	3		1,1	1										PASS		rs1024236807	.												T	2	4	12	24935491	24935491	G	T	1	0	0	0	0	0	0	0	1	16575	1115	39	1		1	TMEM211	22	24935491	Silent	SNP	G	C3L-00144_TP	1873650	24935491	25882977	1706	5985											
KIAA1671	0	.	GRCh38	chr22	25040644	25040644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaggagtcgtccaaaaGatcttcctgtgagaaggaag	12	9	12	8	1	2	3	0	2	2	2	5	6	4	5	2	2	0	0	2	2	4	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.3514G>T	p.Asp1172Tyr	p.D1172Y	ENST00000358431	3/11	281	225	56	248	248	0	strelka-varscan-mutect	KIAA1671,missense_variant,p.Asp1172Tyr,ENST00000358431,NM_001145206.1;KIAA1671,missense_variant,p.Asp1172Tyr,ENST00000406486,;KIAA1671,non_coding_transcript_exon_variant,,ENST00000494730,;KIAA1671,upstream_gene_variant,,ENST00000461374,;	T	ENST00000358431	Transcript	missense_variant	3540/10490	3514/5421	1172/1806	D/Y	Gat/Tat		1		1	KIAA1671	HGNC	HGNC:29345	protein_coding	YES	CCDS46676.1	ENSP00000351207	Q9BY89		UPI00002073DC	NM_001145206.1	deleterious(0.01)		3/11		hmmpanther:PTHR22042,hmmpanther:PTHR22042:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	25040644	25040644	G	T	1	0	0	0	0	1	0	0	0	8125	942	33	2		2	KIAA1671	22	25040644	Missense_Mutation	SNP	G	C3L-00144_TP	105153	25040644	25777824	1707	5986											
MYO18B	0	.	GRCh38	chr22	25843823	25843823	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgcggtacgacctcacGggctggctccacagagccaa	8	6	12	15	3	1	1	1	0	0	1	2	2	2	1	4	3	3	3	4	3	2	1	rs369215277		C3L-00144_TP	C3L-00144_NB	G	G																c.3297G>T	p.=	p.T1099T	ENST00000335473	18/44	200	149	51	170	170	0	strelka-varscan-mutect	MYO18B,synonymous_variant,p.=,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,synonymous_variant,p.=,ENST00000407587,;MYO18B,synonymous_variant,p.=,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	T	ENST00000335473	Transcript	synonymous_variant	3547/8565	3297/7704	1099/2567	T	acG/acT	rs369215277	1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5			18/44		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF372,SMART_domains:SM00242,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs369215277	.												T	2	4	12	25843823	25843823	G	T	1	0	0	0	0	0	0	0	1	10067	1103	39	1		1	MYO18B	22	25843823	Silent	SNP	G	C3L-00144_TP	803179	25843823	24974645	1708	5987											
RFPL2	0	.	GRCh38	chr22	32193046	32193046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggaagagcaacagcaaaGtagatcctccccatggggct	13	6	11	11	0	0	2	0	0	0	2	2	3	2	3	3	3	3	4	3	3	4	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.412C>A	p.Leu138Ile	p.L138I	ENST00000400237	4/5	225	202	23	218	218	0	varscan-mutect	RFPL2,missense_variant,p.Leu138Ile,ENST00000400237,NM_001098527.2;RFPL2,missense_variant,p.Leu77Ile,ENST00000248980,NM_001159545.1,NM_006605.3,NM_001159546.1;RFPL2,missense_variant,p.Leu138Ile,ENST00000248983,;AL008723.1,downstream_gene_variant,,ENST00000623133,;RFPL3-AS1_1,upstream_gene_variant,,ENST00000618747,;RFPL2,non_coding_transcript_exon_variant,,ENST00000489846,;RFPL2,3_prime_UTR_variant,,ENST00000626996,;RFPL2,3_prime_UTR_variant,,ENST00000628378,;	T	ENST00000400237	Transcript	missense_variant	1348/2407	412/1137	138/378	L/I	Ctt/Att		1		-1	RFPL2	HGNC	HGNC:9979	protein_coding	YES	CCDS43009.2	ENSP00000383096	O75678		UPI000013CC66	NM_001098527.2	tolerated(0.16)		4/5		Gene3D:3.30.40.10,Pfam_domain:PF15227,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF225,Superfamily_domains:SSF57850																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	32193046	32193046	G	T	1	0	0	0	0	1	0	0	0	13425	1029	36	2		2	RFPL2	22	32193046	Missense_Mutation	SNP	G	C3L-00144_TP	6349223	32193046	18625422	1709	5988											
MYH9	0	.	GRCh38	chr22	36306034	36306034	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggtccagcacgagatgCgggtccagcttgccggcctg	6	7	15	13	3	0	1	0	0	0	1	2	2	2	1	4	3	5	3	4	3	0	1	rs756137861		C3L-00144_TP	C3L-00144_NB	C	C																c.2055G>T	p.=	p.P685P	ENST00000216181	17/41	367	302	65	277	277	0	strelka-varscan-mutect	MYH9,synonymous_variant,p.=,ENST00000216181,NM_002473.5;MYH9,upstream_gene_variant,,ENST00000495928,;MYH9,upstream_gene_variant,,ENST00000473022,;	A	ENST00000216181	Transcript	synonymous_variant	2286/7501	2055/5883	685/1960	P	ccG/ccT	rs756137861	1		-1	MYH9	HGNC	HGNC:7579	protein_coding	YES	CCDS13927.1	ENSP00000216181	P35579	A0A024R1N1	UPI000012FB80	NM_002473.5			17/41		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF317,SMART_domains:SM00242,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs756137861	.												A	2	1	12	36306034	36306034	C	A	1	0	0	0	0	0	0	0	1	10042	755	27	1		1	MYH9	22	36306034	Silent	SNP	C	C3L-00144_TP	4112988	36306034	14512434	1710	5989											
CSF2RB	0	.	GRCh38	chr22	36938316	36938316	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccggccctctctcgctccgGagtaaaccttcttccccggg	4	9	9	19	4	2	0	0	0	2	0	6	1	4	1	6	3	1	2	6	3	2	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.2508G>T	p.=	p.R836R	ENST00000403662	14/14	504	394	110	410	409	1	strelka-varscan-mutect	CSF2RB,synonymous_variant,p.=,ENST00000403662,NM_000395.2;CSF2RB,synonymous_variant,p.=,ENST00000262825,;CSF2RB,synonymous_variant,p.=,ENST00000406230,;	T	ENST00000403662	Transcript	synonymous_variant	2730/4863	2508/2694	836/897	R	cgG/cgT		1		1	CSF2RB	HGNC	HGNC:2436	protein_coding	YES	CCDS13936.1	ENSP00000384053	P32927		UPI0000128C9F	NM_000395.2			14/14		Low_complexity_(Seg):seg,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF22,PIRSF_domain:PIRSF001956																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	12	36938316	36938316	G	T	1	0	0	0	0	0	0	0	1	3736	1161	41	2		2	CSF2RB	22	36938316	Silent	SNP	G	C3L-00144_TP	632282	36938316	13880152	1711	5990											
GCAT	0	.	GRCh38	chr22	37812968	37812968	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatcccagctgttatgacGccaacgccggcctctttgag	7	11	9	14	3	2	2	0	2	2	0	3	2	3	2	4	1	2	2	4	1	3	3	rs371002709		C3L-00144_TP	C3L-00144_NB	G	G																c.487G>C	p.Ala163Pro	p.A163P	ENST00000323205	3/10	172	133	39	166	166	0	strelka-varscan-mutect	GCAT,missense_variant,p.Ala163Pro,ENST00000323205,NM_001171690.1;GCAT,missense_variant,p.Ala137Pro,ENST00000248924,NM_014291.3;GCAT,missense_variant,p.Ala122Pro,ENST00000451984,;GCAT,missense_variant,p.Ala163Pro,ENST00000445195,;GCAT,non_coding_transcript_exon_variant,,ENST00000415371,;GCAT,3_prime_UTR_variant,,ENST00000426858,;GCAT,non_coding_transcript_exon_variant,,ENST00000478203,;	C	ENST00000323205	Transcript	missense_variant	550/1656	487/1338	163/445	A/P	Gcc/Ccc	rs371002709	1		1	GCAT	HGNC	HGNC:4188	protein_coding	YES	CCDS54527.1	ENSP00000371110	O75600		UPI000020770F	NM_001171690.1	deleterious(0)		3/10		Gene3D:3.40.640.10,HAMAP:MF_00985,Pfam_domain:PF00155,hmmpanther:PTHR13693,hmmpanther:PTHR13693:SF60,Superfamily_domains:SSF53383,TIGRFAM_domain:TIGR01822																	MODERATE	1	SNV	2			1										PASS		rs371002709	.												C	3	2	12	37812968	37812968	G	C	1	0	0	0	0	1	0	0	0	6154	1087	38	4		4	GCAT	22	37812968	Missense_Mutation	SNP	G	C3L-00144_TP	874652	37812968	13005500	1712	5991											
GCAT	0	.	GRCh38	chr22	37816279	37816279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgtgatgctgggtgatGcccggctggcctctcgcatg	3	10	15	13	2	1	2	0	2	1	0	2	2	1	2	3	3	2	3	3	3	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1144G>T	p.Ala382Ser	p.A382S	ENST00000323205	8/10	275	247	28	199	199	0	strelka-varscan-mutect	GCAT,missense_variant,p.Ala382Ser,ENST00000323205,NM_001171690.1;GCAT,missense_variant,p.Ala356Ser,ENST00000248924,NM_014291.3;GCAT,downstream_gene_variant,,ENST00000451984,;GCAT,downstream_gene_variant,,ENST00000445195,;GCAT,downstream_gene_variant,,ENST00000415371,;GCAT,downstream_gene_variant,,ENST00000426858,;GCAT,downstream_gene_variant,,ENST00000478203,;	T	ENST00000323205	Transcript	missense_variant	1207/1656	1144/1338	382/445	A/S	Gcc/Tcc		1		1	GCAT	HGNC	HGNC:4188	protein_coding	YES	CCDS54527.1	ENSP00000371110	O75600		UPI000020770F	NM_001171690.1	deleterious(0.01)		8/10		Gene3D:3.90.1150.10,HAMAP:MF_00985,Pfam_domain:PF00155,hmmpanther:PTHR13693,hmmpanther:PTHR13693:SF60,Superfamily_domains:SSF53383,TIGRFAM_domain:TIGR01822																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	37816279	37816279	G	T	1	0	0	0	0	1	0	0	0	6154	1319	46	2		2	GCAT	22	37816279	Missense_Mutation	SNP	G	C3L-00144_TP	3311	37816279	13002189	1713	5992											
DMC1	0	.	GRCh38	chr22	38538613	38538613	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctccatctgatgttcacCtgatgggaaatgcagtgaga	11	11	11	8	0	2	3	1	3	1	1	3	5	3	4	2	1	2	3	2	1	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.587-1G>T		p.X196_splice	ENST00000216024		450	386	64	340	340	0	strelka-varscan-mutect	DMC1,splice_acceptor_variant,,ENST00000216024,NM_007068.3;DMC1,splice_acceptor_variant,,ENST00000428462,NM_001278208.1;DMC1,splice_acceptor_variant,,ENST00000439567,;	A	ENST00000216024	Transcript	splice_acceptor_variant	-/2371	587/1023	196/340				1		-1	DMC1	HGNC	HGNC:2927	protein_coding	YES	CCDS13973.1	ENSP00000216024	Q14565		UPI00001294D1	NM_007068.3				9/13																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	12	38538613	38538613	C	A	1	0	0	0	0	0	0	1	0	4386	695	24	2		2	DMC1	22	38538613	Splice_Site	SNP	C	C3L-00144_TP	722334	38538613	12279855	1714	5993											
FAM227A	0	.	GRCh38	chr22	38599902	38599902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgaagtcagctcagggCttttgcaggcagcacacgac	9	9	13	10	1	2	1	2	1	0	0	2	2	2	1	0	3	3	6	0	3	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1226G>T	p.Ser409Ile	p.S409I	ENST00000355830	14/19	72	58	14	65	65	0	strelka-varscan-mutect	FAM227A,missense_variant,p.Ser414Ile,ENST00000535113,NM_001291030.1,NM_001013647.1;FAM227A,missense_variant,p.Ser409Ile,ENST00000355830,;FAM227A,non_coding_transcript_exon_variant,,ENST00000540952,;FAM227A,non_coding_transcript_exon_variant,,ENST00000544346,;FAM227A,non_coding_transcript_exon_variant,,ENST00000541689,;	A	ENST00000355830	Transcript	missense_variant	1522/2417	1226/1941	409/646	S/I	aGc/aTc		1		-1	FAM227A	HGNC	HGNC:44197	protein_coding	YES		ENSP00000348086		A0A0A0MRD0	UPI000165DBC2		tolerated(0.18)		14/19		hmmpanther:PTHR33560,hmmpanther:PTHR33560:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	38599902	38599902	C	A	1	0	0	0	0	1	0	0	0	5418	797	28	2		2	FAM227A	22	38599902	Missense_Mutation	SNP	C	C3L-00144_TP	61289	38599902	12218566	1715	5994											
NPTXR	0	.	GRCh38	chr22	38843342	38843342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtgtcgcggcggggccCggcgccctggaggccgcgcg	2	4	20	15	8	0	0	0	0	0	0	1	1	0	1	3	7	0	0	3	7	0	0	rs775179493		C3L-00144_TP	C3L-00144_NB	C	C																c.517G>T	p.Gly173Trp	p.G173W	ENST00000333039	1/5	89	67	22	75	75	0	strelka-varscan-mutect	NPTXR,missense_variant,p.Gly173Trp,ENST00000333039,NM_014293.3;	A	ENST00000333039	Transcript	missense_variant	641/5784	517/1503	173/500	G/W	Ggg/Tgg	rs775179493	1		-1	NPTXR	HGNC	HGNC:7954	protein_coding	YES	CCDS33647.1	ENSP00000327545	O95502		UPI00001B0258	NM_014293.3	deleterious(0.01)		1/5		hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF94																	MODERATE	1	SNV	1			1										PASS		rs775179493	.												A	3	1	12	38843342	38843342	C	A	1	0	0	0	0	1	0	0	0	10660	652	23	1		1	NPTXR	22	38843342	Missense_Mutation	SNP	C	C3L-00144_TP	243440	38843342	11975126	1716	5995											
APOBEC3A	0	.	GRCh38	chr22	38962211	38962211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctgcgggccattctcCaggtgagggcttcctccctc	4	9	14	14	1	1	1	0	1	1	0	5	2	3	2	4	5	1	2	4	5	0	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.583C>A	p.Gln195Lys	p.Q195K	ENST00000402255	5/6	270	224	46	240	240	0	strelka-varscan-mutect	APOBEC3A,missense_variant,p.Gln195Lys,ENST00000402255,;APOBEC3A,missense_variant,p.Gln195Lys,ENST00000249116,NM_001270406.1,NM_145699.3;APOBEC3A,missense_variant,p.Gln195Lys,ENST00000618553,;APOBEC3A,downstream_gene_variant,,ENST00000488758,;	A	ENST00000402255	Transcript	missense_variant,splice_region_variant	787/1478	583/600	195/199	Q/K	Cag/Aag		1		1	APOBEC3A	HGNC	HGNC:17343	protein_coding	YES	CCDS13981.1	ENSP00000384359	P31941	A0A0K0MJ49	UPI00001318F4		tolerated(0.08)		5/6		hmmpanther:PTHR13857:SF14,hmmpanther:PTHR13857																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	38962211	38962211	C	A	1	0	0	0	0	1	0	0	0	910	608	21	2		2	APOBEC3A	22	38962211	Missense_Mutation	SNP	C	C3L-00144_TP	118869	38962211	11856257	1717	5996											
CACNA1I	0	.	GRCh38	chr22	39658995	39658995	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcggaccttccggctgctgCgcgtgctgaaactggtgcgc	4	9	15	13	5	0	1	0	1	0	0	1	2	1	2	2	3	6	3	2	3	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2209C>G	p.Arg737Gly	p.R737G	ENST00000402142	12/37	385	321	64	298	298	0	strelka-varscan-mutect	CACNA1I,missense_variant,p.Arg737Gly,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Arg702Gly,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Arg737Gly,ENST00000401624,;CACNA1I,missense_variant,p.Arg702Gly,ENST00000407673,;	G	ENST00000402142	Transcript	missense_variant	2209/10004	2209/6672	737/2223	R/G	Cgc/Ggc		1		1	CACNA1I	HGNC	HGNC:1396	protein_coding	YES	CCDS46710.1	ENSP00000385019	Q9P0X4		UPI000012727D	NM_021096.3	deleterious(0)		12/37		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF209,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	39658995	39658995	C	G	1	0	0	0	0	1	0	0	0	2234	768	27	4		4	CACNA1I	22	39658995	Missense_Mutation	SNP	C	C3L-00144_TP	696784	39658995	11159473	1718	5997											
CACNA1I	0	.	GRCh38	chr22	39659846	39659846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctggtggagggcttccaGgcggaggtgactgtggtctt	5	11	17	8	1	1	1	0	1	1	0	3	3	3	3	2	7	0	1	2	7	0	2			C3L-00144_TP	C3L-00144_NB	G	G																c.2598G>T	p.Gln866His	p.Q866H	ENST00000402142	14/37	178	149	29	194	194	0	strelka-varscan-mutect	CACNA1I,missense_variant,p.Gln866His,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Gln831His,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Gln866His,ENST00000401624,;CACNA1I,missense_variant,p.Gln831His,ENST00000407673,;	T	ENST00000402142	Transcript	missense_variant	2598/10004	2598/6672	866/2223	Q/H	caG/caT	COSM3554625,COSM3554626,COSM3554627,COSM3554628	1		1	CACNA1I	HGNC	HGNC:1396	protein_coding	YES	CCDS46710.1	ENSP00000385019	Q9P0X4		UPI000012727D	NM_021096.3	deleterious(0.01)		14/37		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF209,Superfamily_domains:SSF81324											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												T	3	4	12	39659846	39659846	G	T	1	0	0	0	0	1	0	0	0	2234	991	35	2		2	CACNA1I	22	39659846	Missense_Mutation	SNP	G	C3L-00144_TP	851	39659846	11158622	1719	5998											
CACNA1I	0	.	GRCh38	chr22	39686156	39686156	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctgcccgccgcccccGccgccagcccccggcctcac	2	5	8	26	5	3	0	1	0	2	0	3	0	3	0	9	1	2	0	9	1	0	1	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.6423G>T	p.=	p.P2141P	ENST00000402142	37/37	74	62	12	61	61	0	strelka-varscan-mutect	CACNA1I,synonymous_variant,p.=,ENST00000402142,NM_021096.3;CACNA1I,synonymous_variant,p.=,ENST00000404898,NM_001003406.1;CACNA1I,downstream_gene_variant,,ENST00000401624,;CACNA1I,downstream_gene_variant,,ENST00000407673,;	T	ENST00000402142	Transcript	synonymous_variant	6423/10004	6423/6672	2141/2223	P	ccG/ccT		1		1	CACNA1I	HGNC	HGNC:1396	protein_coding	YES	CCDS46710.1	ENSP00000385019	Q9P0X4		UPI000012727D	NM_021096.3			37/37		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF209,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	39686156	39686156	G	T	1	0	0	0	0	0	0	0	1	2234	1074	38	1		1	CACNA1I	22	39686156	Silent	SNP	G	C3L-00144_TP	26310	39686156	11132312	1720	5999											
ZC3H7B	0	.	GRCh38	chr22	41356740	41356740	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcacaaggagaaggtcttCacgtccgacagtgacgccag	13	5	12	11	3	2	2	1	1	1	1	3	4	3	2	2	2	1	1	2	2	3	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2613C>T	p.=	p.F871F	ENST00000352645	22/23	300	265	35	239	239	0	strelka-varscan-mutect	ZC3H7B,synonymous_variant,p.=,ENST00000352645,NM_017590.5;	T	ENST00000352645	Transcript	synonymous_variant	2870/5909	2613/2934	871/977	F	ttC/ttT		1		1	ZC3H7B	HGNC	HGNC:30869	protein_coding	YES	CCDS14013.1	ENSP00000345793	Q9UGR2		UPI000002B2AD	NM_017590.5			22/23		hmmpanther:PTHR14928,hmmpanther:PTHR14928:SF6																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	41356740	41356740	C	T	1	0	0	0	0	0	0	0	1	18148	825	29	3		3	ZC3H7B	22	41356740	Silent	SNP	C	C3L-00144_TP	1670584	41356740	9461728	1721	6000											
PACSIN2	0	.	GRCh38	chr22	42891049	42891049	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcttgtgaaaggcttcCttctgccagttcttgatctt	6	17	8	10	0	4	2	0	2	4	0	5	2	5	2	2	1	2	3	2	1	1	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.351G>C	p.Lys117Asn	p.K117N	ENST00000263246	4/11	497	389	108	406	406	0	strelka-varscan-mutect	PACSIN2,missense_variant,p.Lys117Asn,ENST00000263246,NM_001184970.1;PACSIN2,missense_variant,p.Lys117Asn,ENST00000337959,;PACSIN2,missense_variant,p.Lys117Asn,ENST00000407585,NM_001184971.1;PACSIN2,missense_variant,p.Lys117Asn,ENST00000403744,NM_007229.3;PACSIN2,missense_variant,p.Lys117Asn,ENST00000402229,;PACSIN2,missense_variant,p.Lys117Asn,ENST00000634914,;PACSIN2,missense_variant,p.Lys117Asn,ENST00000453643,;PACSIN2,missense_variant,p.Lys117Asn,ENST00000422336,;PACSIN2,missense_variant,p.Lys117Asn,ENST00000418133,;PACSIN2,downstream_gene_variant,,ENST00000453079,;PACSIN2,downstream_gene_variant,,ENST00000445706,;	G	ENST00000263246	Transcript	missense_variant	553/3249	351/1461	117/486	K/N	aaG/aaC		1		-1	PACSIN2	HGNC	HGNC:8571	protein_coding	YES	CCDS43023.1	ENSP00000263246	Q9UNF0		UPI00001311CA	NM_001184970.1	deleterious(0)		4/11		PROSITE_profiles:PS51741,hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF14,Superfamily_domains:SSF103657																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	12	42891049	42891049	C	G	1	0	0	0	0	1	0	0	0	11453	680	24	4		4	PACSIN2	22	42891049	Missense_Mutation	SNP	C	C3L-00144_TP	1534309	42891049	7927419	1722	6001											
SCUBE1	0	.	GRCh38	chr22	43212531	43212531	+	Silent	SNP	C	C	A																															ggctcaggctggtacgtgccCacggggcaggcctggcaggg																								novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2115G>T	p.=	p.V705V	ENST00000360835	17/22	249	193	56	221	221	0	strelka-varscan-mutect	SCUBE1,synonymous_variant,p.=,ENST00000360835,NM_173050.3;SCUBE1,intron_variant,,ENST00000615096,;Z82214.3,upstream_gene_variant,,ENST00000420269,;	A	ENST00000360835	Transcript	synonymous_variant	2242/9808	2115/2967	705/988	V	gtG/gtT		1		-1	SCUBE1	HGNC	HGNC:13441	protein_coding	YES	CCDS14048.1	ENSP00000354080	Q8IWY4		UPI000020790F	NM_173050.3			17/22		Pfam_domain:PF07699,hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF4,SMART_domains:SM01411,Superfamily_domains:SSF57184																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	43212531	43212531	C	A	1	0	0	0	0	0	0	0	1	14215	581	21	2		2	SCUBE1	22	43212531	Silent	SNP	C	C3L-00144_TP	321482	43212531	7605937	1723	6002	137	2									
SCUBE1	0	.	GRCh38	chr22	43212532	43212532	+	Missense_Mutation	SNP	A	A	C																															gctcaggctggtacgtgcccAcggggcaggcctggcagggc																								novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2114T>G	p.Val705Gly	p.V705G	ENST00000360835	17/22	254	197	57	224	224	0	strelka-varscan-mutect	SCUBE1,missense_variant,p.Val705Gly,ENST00000360835,NM_173050.3;SCUBE1,intron_variant,,ENST00000615096,;Z82214.3,upstream_gene_variant,,ENST00000420269,;	C	ENST00000360835	Transcript	missense_variant	2241/9808	2114/2967	705/988	V/G	gTg/gGg		1		-1	SCUBE1	HGNC	HGNC:13441	protein_coding	YES	CCDS14048.1	ENSP00000354080	Q8IWY4		UPI000020790F	NM_173050.3	tolerated(0.08)		17/22		Pfam_domain:PF07699,hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF4,SMART_domains:SM01411,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	43212532	43212532	A	C	1	0	0	0	0	1	0	0	0	14215	159	6	5		5	SCUBE1	22	43212532	Missense_Mutation	SNP	A	C3L-00144_TP	1	43212532	7605936	1724	6003	137	2									
SCUBE1	0	.	GRCh38	chr22	43227418	43227418	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccgcctccccgggggaCagacgcactcgtagctgccc	6	4	14	17	4	0	1	0	0	0	1	2	3	1	3	5	3	3	3	5	3	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1163G>T	p.Cys388Phe	p.C388F	ENST00000360835	10/22	252	156	96	221	220	1	strelka-varscan-mutect	SCUBE1,missense_variant,p.Cys388Phe,ENST00000360835,NM_173050.3;SCUBE1,intron_variant,,ENST00000615096,;SCUBE1,downstream_gene_variant,,ENST00000449304,;Z82214.2,upstream_gene_variant,,ENST00000419643,;	A	ENST00000360835	Transcript	missense_variant	1290/9808	1163/2967	388/988	C/F	tGt/tTt		1		-1	SCUBE1	HGNC	HGNC:13441	protein_coding	YES	CCDS14048.1	ENSP00000354080	Q8IWY4		UPI000020790F	NM_173050.3	deleterious(0.01)		10/22		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS00010,PROSITE_profiles:PS50026,hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF4,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	43227418	43227418	C	A	1	0	0	0	0	1	0	0	0	14215	478	17	2		2	SCUBE1	22	43227418	Missense_Mutation	SNP	C	C3L-00144_TP	14886	43227418	7591050	1725	6004											
SCUBE1	0	.	GRCh38	chr22	43262826	43262826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcacagccatggtctttGttcatgcagttcataccctc	7	13	9	12	0	3	0	2	0	1	0	4	0	3	0	2	2	3	4	2	2	1	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.504C>A	p.Asn168Lys	p.N168K	ENST00000360835	5/22	191	128	63	131	129	2	strelka-varscan-mutect	SCUBE1,missense_variant,p.Asn168Lys,ENST00000360835,NM_173050.3;SCUBE1,missense_variant,p.Asn168Lys,ENST00000290460,;SCUBE1,missense_variant,p.Asn168Lys,ENST00000615096,;SCUBE1,upstream_gene_variant,,ENST00000449304,;	T	ENST00000360835	Transcript	missense_variant	631/9808	504/2967	168/988	N/K	aaC/aaA		1		-1	SCUBE1	HGNC	HGNC:13441	protein_coding	YES	CCDS14048.1	ENSP00000354080	Q8IWY4		UPI000020790F	NM_173050.3	deleterious(0.01)		5/22		Gene3D:2.10.25.10,hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF4,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	43262826	43262826	G	T	1	0	0	0	0	1	0	0	0	14215	1368	48	2		2	SCUBE1	22	43262826	Missense_Mutation	SNP	G	C3L-00144_TP	35408	43262826	7555642	1726	6005											
TBC1D22A	0	.	GRCh38	chr22	46912080	46912080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattttctttcagatttttGaaaggatcttgttcatatgg	9	19	7	6	0	4	2	2	1	2	1	4	3	4	3	1	2	0	1	1	2	2	8	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.907G>A	p.Glu303Lys	p.E303K	ENST00000337137	8/13	121	113	8	98	98	0	strelka-varscan-mutect	TBC1D22A,missense_variant,p.Glu273Lys,ENST00000380995,NM_001284304.1;TBC1D22A,missense_variant,p.Glu303Lys,ENST00000337137,NM_014346.3;TBC1D22A,missense_variant,p.Glu256Lys,ENST00000406733,NM_001284305.1;TBC1D22A,missense_variant,p.Glu244Lys,ENST00000407381,;TBC1D22A,missense_variant,p.Glu225Lys,ENST00000355704,NM_001284303.1;U51561.1,downstream_gene_variant,,ENST00000625149,;TBC1D22A,missense_variant,p.Glu256Lys,ENST00000441162,;TBC1D22A,3_prime_UTR_variant,,ENST00000394449,;	A	ENST00000337137	Transcript	missense_variant	1073/3787	907/1554	303/517	E/K	Gaa/Aaa		1		1	TBC1D22A	HGNC	HGNC:1309	protein_coding	YES	CCDS14078.1	ENSP00000336724	Q8WUA7		UPI0000128722	NM_014346.3	deleterious(0)		8/13		PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF255,Gene3D:2qq8A02,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	46912080	46912080	G	A	1	0	0	0	0	1	0	0	0	16011	1291	45	3		3	TBC1D22A	22	46912080	Missense_Mutation	SNP	G	C3L-00144_TP	3649254	46912080	3906388	1727	6006											
PLXNB2	0	.	GRCh38	chr22	50278993	50278993	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtccactccctcgtcctGcacgatcacgctcaccgtct	5	9	8	19	5	3	0	2	0	1	0	7	1	6	0	4	1	1	2	4	1	0	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.4408C>T	p.Gln1470Ter	p.Q1470*	ENST00000449103	28/37	56	36	20	59	59	0	strelka-mutect	PLXNB2,stop_gained,p.Gln1470Ter,ENST00000449103,;PLXNB2,stop_gained,p.Gln1470Ter,ENST00000359337,NM_012401.3;PLXNB2,stop_gained,p.Gln102Ter,ENST00000614805,;PLXNB2,5_prime_UTR_variant,,ENST00000610984,;PLXNB2,intron_variant,,ENST00000411680,;PLXNB2,downstream_gene_variant,,ENST00000427829,;PLXNB2,downstream_gene_variant,,ENST00000496720,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000479701,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000463165,;PLXNB2,upstream_gene_variant,,ENST00000479818,;PLXNB2,downstream_gene_variant,,ENST00000492578,;	A	ENST00000449103	Transcript	stop_gained	4549/6383	4408/5517	1470/1838	Q/*	Cag/Tag		1		-1	PLXNB2	HGNC	HGNC:9104	protein_coding	YES	CCDS43035.1	ENSP00000409171	O15031		UPI000003812D				28/37		hmmpanther:PTHR22625:SF9,hmmpanther:PTHR22625,Pfam_domain:PF08337,Gene3D:3.10.20.90																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	12	50278993	50278993	G	A	1	0	0	0	0	0	1	0	0	12230	1328	46	3		3	PLXNB2	22	50278993	Nonsense_Mutation	SNP	G	C3L-00144_TP	3366913	50278993	539475	1728	6007											
PLXNB2	0	.	GRCh38	chr22	50290346	50290346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggctggcctcgatgggcGgcgtgcacttcttgttgtcc	3	12	14	12	3	1	0	0	0	1	0	3	1	2	0	2	4	1	3	2	4	0	3			C3L-00144_TP	C3L-00144_NB	G	G																c.239C>T	p.Pro80Leu	p.P80L	ENST00000449103	3/37	227	135	92	187	187	0	strelka-varscan-mutect	PLXNB2,missense_variant,p.Pro80Leu,ENST00000449103,;PLXNB2,missense_variant,p.Pro80Leu,ENST00000359337,NM_012401.3;PLXNB2,missense_variant,p.Pro80Leu,ENST00000432455,;PLXNB2,missense_variant,p.Pro80Leu,ENST00000425954,;PLXNB2,upstream_gene_variant,,ENST00000411680,;PLXNB2,upstream_gene_variant,,ENST00000434732,;PLXNB2,upstream_gene_variant,,ENST00000496720,;	A	ENST00000449103	Transcript	missense_variant	380/6383	239/5517	80/1838	P/L	cCg/cTg	COSM726727	1		-1	PLXNB2	HGNC	HGNC:9104	protein_coding	YES	CCDS43035.1	ENSP00000409171	O15031		UPI000003812D		deleterious(0)		3/37		PROSITE_profiles:PS51004,hmmpanther:PTHR22625:SF9,hmmpanther:PTHR22625,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	12	50290346	50290346	G	A	1	0	0	0	0	1	0	0	0	12230	1116	39	1		1	PLXNB2	22	50290346	Missense_Mutation	SNP	G	C3L-00144_TP	11353	50290346	528122	1729	6008											
ARSH	0	.	GRCh38	chrX	3033334	3033334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccttgctgtgggaccttCcccttctgtgggtgtgacaa	5	12	12	12	0	1	1	0	1	1	0	2	2	2	2	4	2	2	1	4	2	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1638C>A	p.Phe546Leu	p.F546L	ENST00000381130	9/9	71	44	27	42	42	0	strelka-varscan-mutect	ARSH,missense_variant,p.Phe546Leu,ENST00000381130,NM_001011719.1;	A	ENST00000381130	Transcript	missense_variant	1638/1875	1638/1689	546/562	F/L	ttC/ttA		1		1	ARSH	HGNC	HGNC:32488	protein_coding	YES	CCDS35198.1	ENSP00000370522	Q5FYA8		UPI00001D7C2E	NM_001011719.1	tolerated(0.08)		9/9		Pfam_domain:PF14707,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF240,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	3033334	3033334	C	A	1	0	0	0	0	1	0	0	0	1136	854	30	2		2	ARSH	23	3033334	Missense_Mutation	SNP	C	C3L-00144_TP		3033334	153007561	1730	6009											
MXRA5	0	.	GRCh38	chrX	3311560	3311560	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacaggtaatctccggcatCtttgtccgtcactgatttca	8	13	8	12	2	4	1	2	1	2	0	6	1	5	1	2	2	0	3	2	2	1	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.6643G>C	p.Asp2215His	p.D2215H	ENST00000217939	7/7	88	56	32	69	69	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Asp2215His,ENST00000217939,NM_015419.3;	G	ENST00000217939	Transcript	missense_variant	6798/9793	6643/8487	2215/2828	D/H	Gat/Cat		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	deleterious(0)		7/7		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	12	3311560	3311560	C	G	1	0	0	0	0	1	0	0	0	10002	913	32	4		4	MXRA5	23	3311560	Missense_Mutation	SNP	C	C3L-00144_TP	278226	3311560	152729335	1731	6010											
MXRA5	0	.	GRCh38	chrX	3320774	3320774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtccagtgacgaggtgaCtgggaagttacaaagtatct	11	11	13	6	1	1	2	0	2	1	0	2	4	2	3	1	3	1	2	1	3	4	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.4911G>T	p.Gln1637His	p.Q1637H	ENST00000217939	5/7	182	116	66	158	158	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Gln1637His,ENST00000217939,NM_015419.3;	A	ENST00000217939	Transcript	missense_variant	5066/9793	4911/8487	1637/2828	Q/H	caG/caT		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	deleterious(0.05)		5/7		hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	3320774	3320774	C	A	1	0	0	0	0	1	0	0	0	10002	564	20	2		2	MXRA5	23	3320774	Missense_Mutation	SNP	C	C3L-00144_TP	9214	3320774	152720121	1732	6011											
MXRA5	0	.	GRCh38	chrX	3322062	3322062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttgggggtattaactgtgTtatccacccaagctgtagga	9	13	12	7	0	0	0	0	0	0	0	1	1	1	1	2	3	2	5	2	3	5	5	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.3623A>G	p.Asn1208Ser	p.N1208S	ENST00000217939	5/7	104	63	41	83	83	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Asn1208Ser,ENST00000217939,NM_015419.3;	C	ENST00000217939	Transcript	missense_variant	3778/9793	3623/8487	1208/2828	N/S	aAc/aGc		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	tolerated(0.92)		5/7		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF680																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	12	3322062	3322062	T	C	1	0	0	0	0	1	0	0	0	10002	1725	60	5		5	MXRA5	23	3322062	Missense_Mutation	SNP	T	C3L-00144_TP	1288	3322062	152718833	1733	6012											
MXRA5	0	.	GRCh38	chrX	3322871	3322871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaccctctgttgccgtCtcttcatgggtgggcttttc	4	14	10	13	1	3	0	1	0	2	0	5	1	3	0	3	2	2	2	3	2	1	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.2814G>T	p.Glu938Asp	p.E938D	ENST00000217939	5/7	98	63	35	76	76	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Glu938Asp,ENST00000217939,NM_015419.3;	A	ENST00000217939	Transcript	missense_variant	2969/9793	2814/8487	938/2828	E/D	gaG/gaT		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	tolerated(0.32)		5/7																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	12	3322871	3322871	C	A	1	0	0	0	0	1	0	0	0	10002	912	32	2		2	MXRA5	23	3322871	Missense_Mutation	SNP	C	C3L-00144_TP	809	3322871	152718024	1734	6013											
VCX	0	.	GRCh38	chrX	7843227	7843227	+	Silent	SNP	G	G	C																															agtccaaagccgagagcctcGggacctccggccaaggccac																								rs751198308		C3L-00144_TP	C3L-00144_NB	G	G																c.24G>C	p.=	p.S8S	ENST00000381059	2/3	471	394	77	416	416	0	strelka-varscan-mutect	VCX,synonymous_variant,p.=,ENST00000381059,NM_013452.2;VCX,synonymous_variant,p.=,ENST00000620630,;VCX,synonymous_variant,p.=,ENST00000341408,;	C	ENST00000381059	Transcript	synonymous_variant	243/967	24/621	8/206	S	tcG/tcC	rs751198308	1		1	VCX	HGNC	HGNC:12667	protein_coding	YES	CCDS14128.1	ENSP00000370447	Q9H320		UPI0000138291	NM_013452.2			2/3		Pfam_domain:PF15231,hmmpanther:PTHR15251,hmmpanther:PTHR15251:SF0																	LOW	1	SNV	1			1										PASS		rs751198308	.												C	2	2	12	7843227	7843227	G	C	1	0	0	0	0	0	0	0	1	17688	1103	39	4		4	VCX	23	7843227	Silent	SNP	G	C3L-00144_TP	4520356	7843227	148197668	1735	6014	138	2									
VCX	0	.	GRCh38	chrX	7843229	7843229	+	Missense_Mutation	SNP	G	G	T																															tccaaagccgagagcctcggGacctccggccaaggccacgg																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.26G>T	p.Gly9Val	p.G9V	ENST00000381059	2/3	488	443	45	427	427	0	varscan-mutect	VCX,missense_variant,p.Gly9Val,ENST00000381059,NM_013452.2;VCX,missense_variant,p.Gly9Val,ENST00000620630,;VCX,missense_variant,p.Gly9Val,ENST00000341408,;	T	ENST00000381059	Transcript	missense_variant	245/967	26/621	9/206	G/V	gGa/gTa		1		1	VCX	HGNC	HGNC:12667	protein_coding	YES	CCDS14128.1	ENSP00000370447	Q9H320		UPI0000138291	NM_013452.2	deleterious_low_confidence(0)		2/3		Pfam_domain:PF15231,hmmpanther:PTHR15251,hmmpanther:PTHR15251:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	7843229	7843229	G	T	1	0	0	0	0	1	0	0	0	17688	1174	41	2		2	VCX	23	7843229	Missense_Mutation	SNP	G	C3L-00144_TP	2	7843229	148197666	1736	6015	138	2									
VCX3B	0	.	GRCh38	chrX	8465476	8465476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccaaagccgagagcctcggGacctccggccaaggccaagg	10	3	13	15	3	0	1	0	0	0	1	3	3	2	2	7	4	2	0	7	4	3	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.26G>T	p.Gly9Val	p.G9V	ENST00000381032	2/3	512	433	79	411	410	1	strelka-varscan-mutect	VCX3B,missense_variant,p.Gly9Val,ENST00000381032,NM_001001888.3;VCX3B,missense_variant,p.Gly9Val,ENST00000453306,;VCX3B,missense_variant,p.Gly9Val,ENST00000444481,;VCX3B,missense_variant,p.Gly9Val,ENST00000381029,;	T	ENST00000381032	Transcript	missense_variant	333/1171	26/741	9/246	G/V	gGa/gTa		1		1	VCX3B	HGNC	HGNC:31838	protein_coding	YES	CCDS48077.2	ENSP00000370420	Q9H321		UPI000057A469	NM_001001888.3	deleterious_low_confidence(0)		2/3		Pfam_domain:PF15231,hmmpanther:PTHR15251,hmmpanther:PTHR15251:SF0																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	12	8465476	8465476	G	T	1	0	0	0	0	1	0	0	0	17690	1174	41	2		2	VCX3B	23	8465476	Missense_Mutation	SNP	G	C3L-00144_TP	622247	8465476	147575419	1737	6016											
VCX3B	0	.	GRCh38	chrX	8465791	8465791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagttcgtagagggagacGcgggaagaaaggggctgcga	12	4	19	6	4	0	3	0	0	0	3	1	6	0	4	0	4	2	4	0	4	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.149G>T	p.Arg50Leu	p.R50L	ENST00000381032	3/3	103	92	11	121	121	0	varscan-mutect	VCX3B,missense_variant,p.Arg50Leu,ENST00000381032,NM_001001888.3;VCX3B,missense_variant,p.Arg50Leu,ENST00000453306,;VCX3B,missense_variant,p.Arg50Leu,ENST00000444481,;VCX3B,missense_variant,p.Arg50Leu,ENST00000381029,;	T	ENST00000381032	Transcript	missense_variant	456/1171	149/741	50/246	R/L	cGc/cTc		1		1	VCX3B	HGNC	HGNC:31838	protein_coding	YES	CCDS48077.2	ENSP00000370420	Q9H321		UPI000057A469	NM_001001888.3	tolerated_low_confidence(0.16)		3/3		Pfam_domain:PF15231,hmmpanther:PTHR15251,hmmpanther:PTHR15251:SF0,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs1283270507	.												T	3	4	12	8465791	8465791	G	T	1	0	0	0	0	1	0	0	0	17690	1087	38	1		1	VCX3B	23	8465791	Missense_Mutation	SNP	G	C3L-00144_TP	315	8465791	147575104	1738	6017											
FANCB	0	.	GRCh38	chrX	14850617	14850617	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattgtctgataacttttCatctaagatatggacagaat	16	14	6	5	0	3	3	1	1	2	2	3	4	3	4	0	1	1	0	0	1	6	6	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1384G>T	p.Glu462Ter	p.E462*	ENST00000398334	7/10	67	54	13	88	88	0	strelka-varscan-mutect	FANCB,stop_gained,p.Glu462Ter,ENST00000398334,NM_001324162.1,NM_001018113.1;FANCB,stop_gained,p.Glu462Ter,ENST00000324138,NM_152633.2;FANCB,stop_gained,p.Glu462Ter,ENST00000452869,;	A	ENST00000398334	Transcript	stop_gained	1652/3008	1384/2580	462/859	E/*	Gaa/Taa		1		-1	FANCB	HGNC	HGNC:3583	protein_coding	YES	CCDS14161.1	ENSP00000381378	Q8NB91	A0A024RBW1	UPI000006E70A	NM_001324162.1,NM_001018113.1			7/10		hmmpanther:PTHR28450																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	12	14850617	14850617	C	A	1	0	0	0	0	0	1	0	0	5522	835	29	2		2	FANCB	23	14850617	Nonsense_Mutation	SNP	C	C3L-00144_TP	6384826	14850617	141190278	1739	6018											
PIR	0	.	GRCh38	chrX	15459687	15459687	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggttcattttaccagtGtgtccacagaagtcttcatg	8	14	9	10	0	3	1	2	0	1	1	4	1	4	1	3	1	1	1	3	1	2	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.243C>G	p.His81Gln	p.H81Q	ENST00000380421	4/10	123	81	42	109	109	0	strelka-varscan-mutect	PIR,missense_variant,p.His81Gln,ENST00000380421,NM_003662.3,NM_001018109.2;PIR,missense_variant,p.His81Gln,ENST00000380420,;BMX,upstream_gene_variant,,ENST00000357607,;PIR,non_coding_transcript_exon_variant,,ENST00000476381,;	C	ENST00000380421	Transcript	missense_variant	704/1539	243/873	81/290	H/Q	caC/caG		1		-1	PIR	HGNC	HGNC:30048	protein_coding	YES	CCDS14167.1	ENSP00000369786	O00625	A0A024RBX6	UPI0000049C30	NM_003662.3,NM_001018109.2	deleterious(0.01)		4/10		Gene3D:2.60.120.10,Pfam_domain:PF02678,PIRSF_domain:PIRSF006232,hmmpanther:PTHR13903,hmmpanther:PTHR13903:SF8,Superfamily_domains:SSF51182																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	15459687	15459687	G	C	1	0	0	0	0	1	0	0	0	12039	1368	48	4		4	PIR	23	15459687	Missense_Mutation	SNP	G	C3L-00144_TP	609070	15459687	140581208	1740	6019											
CDKL5	0	.	GRCh38	chrX	18604206	18604206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgacccaaagccttcagaaGgcccagggacaaagtacctc	13	6	9	13	0	1	2	1	1	0	1	2	3	1	3	4	2	2	1	4	2	4	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1282G>T	p.Gly428Cys	p.G428C	ENST00000379989	13/22	339	207	132	332	332	0	strelka-varscan-mutect	CDKL5,missense_variant,p.Gly428Cys,ENST00000623535,;CDKL5,missense_variant,p.Gly428Cys,ENST00000635828,;CDKL5,missense_variant,p.Gly428Cys,ENST00000379989,NM_001037343.1;CDKL5,missense_variant,p.Gly428Cys,ENST00000379996,NM_003159.2;CDKL5,missense_variant,p.Gly428Cys,ENST00000463994,;CDKL5,missense_variant,p.Gly428Cys,ENST00000637881,;	T	ENST00000379989	Transcript	missense_variant	1567/3463	1282/3093	428/1030	G/C	Ggc/Tgc		1		1	CDKL5	HGNC	HGNC:11411	protein_coding	YES	CCDS14186.1	ENSP00000369325	O76039		UPI0000136103	NM_001037343.1	deleterious_low_confidence(0)		13/22																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	18604206	18604206	G	T	1	0	0	0	0	1	0	0	0	2861	1000	35	2		2	CDKL5	23	18604206	Missense_Mutation	SNP	G	C3L-00144_TP	3144519	18604206	137436689	1741	6020											
PHEX	0	.	GRCh38	chrX	22077685	22077685	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgatgacaaagcatccAatgaacatatcttgaaggta	15	9	7	10	0	1	4	0	4	1	0	2	4	2	4	3	1	2	2	3	1	6	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.646A>T	p.Asn216Tyr	p.N216Y	ENST00000379374	5/22	190	129	61	157	157	0	strelka-varscan-mutect	PHEX,missense_variant,p.Asn216Tyr,ENST00000379374,NM_001282754.1,NM_000444.5;	T	ENST00000379374	Transcript	missense_variant	1211/6172	646/2250	216/749	N/Y	Aat/Tat		1		1	PHEX	HGNC	HGNC:8918	protein_coding	YES	CCDS14204.1	ENSP00000368682	P78562		UPI0000033C42	NM_001282754.1,NM_000444.5	deleterious(0.01)		5/22		Pfam_domain:PF05649,hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF149,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	22077685	22077685	A	T	1	0	0	0	0	1	0	0	0	11908	130	5	4		4	PHEX	23	22077685	Missense_Mutation	SNP	A	C3L-00144_TP	3473479	22077685	133963210	1742	6021											
MAGEB18	0	.	GRCh38	chrX	26139403	26139403	+	Frame_Shift_Del	DEL	A	A	-																															tgataaagtttgttatcaggAaggataagtgtcacttcaat																								rs751715961		C3L-00144_TP	C3L-00144_NB	A	A																c.419delA	p.Lys140ArgfsTer25	p.K140Rfs*25	ENST00000325250	2/3	144	125	19	140	140	0	sindel-varindel-pindel	MAGEB18,frameshift_variant,p.Lys140ArgfsTer25,ENST00000325250,NM_173699.3;	-	ENST00000325250	Transcript	frameshift_variant	605/1811	418/1032	140/343	K/X	Aag/ag	rs751715961	1		1	MAGEB18	HGNC	HGNC:28515	protein_coding	YES	CCDS14216.1	ENSP00000314543	Q96M61		UPI00001415E3	NM_173699.3			2/3		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF23,hmmpanther:PTHR11736,Pfam_domain:PF01454,SMART_domains:SM01373																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	12	26139403	26139403	A	-	1	0	1	0	1	0	0	0	0	9091	247	9	0		0	MAGEB18	23	26139403	Frame_Shift_Del	DEL	A	C3L-00144_TP	4061718	26139403	129901492	1743	6022											
MAGEB6	0	.	GRCh38	chrX	26194662	26194662	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagctaggcctccccagTgaaggaattctgagtggtga	11	8	13	9	0	1	3	0	3	1	0	2	4	2	4	3	3	2	2	3	3	4	2			C3L-00144_TP	C3L-00144_NB	T	T																c.816T>A	p.Ser272Arg	p.S272R	ENST00000379034	2/2	85	58	27	94	94	0	strelka-varscan-mutect	MAGEB6,missense_variant,p.Ser272Arg,ENST00000379034,NM_173523.2;	A	ENST00000379034	Transcript	missense_variant	965/1949	816/1224	272/407	S/R	agT/agA	COSM4876874	1		1	MAGEB6	HGNC	HGNC:23796	protein_coding	YES	CCDS14217.1	ENSP00000368320	Q8N7X4		UPI00001413F4	NM_173523.2	tolerated(0.31)		2/2		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF80,hmmpanther:PTHR11736,Pfam_domain:PF01454,SMART_domains:SM01373											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	12	26194662	26194662	T	A	1	0	0	0	0	1	0	0	0	9096	1693	59	4		4	MAGEB6	23	26194662	Missense_Mutation	SNP	T	C3L-00144_TP	55259	26194662	129846233	1744	6023											
PPP4R3CP	0	.	GRCh38	chrX	27462802	27462802	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atataagcctcatttttcaaGatctcagccagtctttccct	10	15	4	12	0	4	1	3	0	2	1	6	1	5	1	3	0	2	0	3	0	3	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.495C>T	p.=	p.I165I	ENST00000412172	1/1	175	130	45	140	140	0	strelka-varscan-mutect	PPP4R3CP,synonymous_variant,p.=,ENST00000412172,;	A	ENST00000412172	Transcript	synonymous_variant	540/3131	495/2499	165/832	I	atC/atT		1		-1	PPP4R3CP	HGNC	HGNC:33146	protein_coding	YES		ENSP00000489770			UPI0000D61D3F				1/1		hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF5																	LOW	1	SNV				1										PASS		.	.												A	2	1	12	27462802	27462802	G	A	1	0	0	0	0	0	0	0	1	12529	932	33	3		3	PPP4R3CP	23	27462802	Silent	SNP	G	C3L-00144_TP	1268140	27462802	128578093	1745	6024											
PPP4R3CP	0	.	GRCh38	chrX	27463066	27463066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aattttagcaccaaaccctgGttctcagcttcataccaaac	13	11	4	13	0	2	0	2	0	1	0	3	0	2	0	3	1	5	3	3	1	5	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.231C>A	p.Asn77Lys	p.N77K	ENST00000412172	1/1	121	71	50	79	79	0	strelka-varscan-mutect	PPP4R3CP,missense_variant,p.Asn77Lys,ENST00000412172,;	T	ENST00000412172	Transcript	missense_variant	276/3131	231/2499	77/832	N/K	aaC/aaA		1		-1	PPP4R3CP	HGNC	HGNC:33146	protein_coding	YES		ENSP00000489770			UPI0000D61D3F				1/1		hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF5,Superfamily_domains:SSF50729																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	12	27463066	27463066	G	T	1	0	0	0	0	1	0	0	0	12529	1252	44	2		2	PPP4R3CP	23	27463066	Missense_Mutation	SNP	G	C3L-00144_TP	264	27463066	128577829	1746	6025											
MAGEB3	0	.	GRCh38	chrX	30236938	30236938	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaagtgttccaaggcCaaggctagcagctcttccca	11	7	11	12	0	1	1	0	0	1	1	3	1	3	1	3	3	2	5	3	3	4	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1014C>A	p.=	p.A338A	ENST00000361644	5/5	36	23	13	38	38	0	strelka-varscan-mutect	MAGEB3,synonymous_variant,p.=,ENST00000361644,NM_002365.4;MAGEB3,synonymous_variant,p.=,ENST00000620842,;	A	ENST00000361644	Transcript	synonymous_variant	1751/2305	1014/1041	338/346	A	gcC/gcA		1		1	MAGEB3	HGNC	HGNC:6810	protein_coding	YES	CCDS14220.1	ENSP00000355198	O15480		UPI000013E79F	NM_002365.4			5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR11736:SF53,hmmpanther:PTHR11736																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	12	30236938	30236938	C	A	1	0	0	0	0	0	0	0	1	9093	581	21	2		2	MAGEB3	23	30236938	Silent	SNP	C	C3L-00144_TP	2773872	30236938	125803957	1747	6026											
DMD	0	.	GRCh38	chrX	31182783	31182783	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatgttacatttggccTgatgcttggcagtttctgca	7	15	11	8	0	1	2	0	1	1	1	1	2	1	2	1	2	4	6	1	2	1	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.9929A>T	p.Gln3310Leu	p.Q3310L	ENST00000357033	68/79	152	95	57	124	124	0	strelka-varscan-mutect	DMD,missense_variant,p.Gln3310Leu,ENST00000357033,NM_000109.3,NM_004006.2;DMD,missense_variant,p.Gln3306Leu,ENST00000378677,NM_004010.3,NM_004009.3;DMD,missense_variant,p.Gln3309Leu,ENST00000620040,;DMD,missense_variant,p.Gln3305Leu,ENST00000619831,;DMD,missense_variant,p.Gln850Leu,ENST00000378707,NM_004013.2;DMD,missense_variant,p.Gln850Leu,ENST00000359836,NM_004022.2;DMD,missense_variant,p.Gln850Leu,ENST00000541735,NM_004020.3,NM_004023.2;DMD,missense_variant,p.Gln1006Leu,ENST00000358062,;DMD,missense_variant,p.Gln581Leu,ENST00000343523,NM_004014.2;DMD,missense_variant,p.Gln850Leu,ENST00000474231,NM_004021.2;DMD,missense_variant,p.Gln242Leu,ENST00000378723,NM_004016.2;DMD,missense_variant,p.Gln242Leu,ENST00000378702,NM_004015.2,NM_004017.2;DMD,missense_variant,p.Gln242Leu,ENST00000361471,NM_004018.2;DMD,missense_variant,p.Gln242Leu,ENST00000378680,;DMD,missense_variant,p.Gln100Leu,ENST00000378705,;DMD,non_coding_transcript_exon_variant,,ENST00000475732,;	A	ENST00000357033	Transcript	missense_variant	10136/13956	9929/11058	3310/3685	Q/L	cAg/cTg		1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2	deleterious(0)		68/79		PROSITE_profiles:PS50135,hmmpanther:PTHR11915:SF261,hmmpanther:PTHR11915,PIRSF_domain:PIRSF002341,Pfam_domain:PF00569,SMART_domains:SM00291,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		rs886044071	.												A	3	1	12	31182783	31182783	T	A	1	0	0	0	0	1	0	0	0	4387	1580	55	4		4	DMD	23	31182783	Missense_Mutation	SNP	T	C3L-00144_TP	945845	31182783	124858112	1748	6027											
FAM47A	0	.	GRCh38	chrX	34131218	34131218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacactccagtctcggaaGgctccgagcggagactggac	9	5	15	12	3	1	1	0	0	1	1	4	6	3	4	2	5	1	1	2	5	1	0	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1061C>A	p.Pro354His	p.P354H	ENST00000346193	1/1	71	47	24	56	56	0	strelka-varscan-mutect	FAM47A,missense_variant,p.Pro354His,ENST00000346193,NM_203408.3;FAM47A,missense_variant,p.Pro354His,ENST00000613251,;	T	ENST00000346193	Transcript	missense_variant	1094/2556	1061/2376	354/791	P/H	cCt/cAt		1		-1	FAM47A	HGNC	HGNC:29962	protein_coding	YES	CCDS43926.1	ENSP00000345029	Q5JRC9		UPI000013F1F4	NM_203408.3	deleterious(0)		1/1		Pfam_domain:PF14642																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	12	34131218	34131218	G	T	1	0	0	0	0	1	0	0	0	5447	1000	35	2		2	FAM47A	23	34131218	Missense_Mutation	SNP	G	C3L-00144_TP	2948435	34131218	121909677	1749	6028											
CFAP47	0	.	GRCh38	chrX	36144605	36144605	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatggatgcaggagtcagTggcctgagaaaggaagatat	14	7	16	4	0	1	3	1	1	0	3	1	8	1	6	1	4	1	1	1	4	3	1	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.1305T>A	p.Ser435Arg	p.S435R	ENST00000313548	10/10	92	62	30	88	88	0	strelka-varscan-mutect	CFAP47,missense_variant,p.Ser435Arg,ENST00000313548,;CFAP47,intron_variant,,ENST00000378653,NM_001304548.1;CFAP47,non_coding_transcript_exon_variant,,ENST00000378660,;	A	ENST00000313548	Transcript	missense_variant	1345/1549	1305/1509	435/502	S/R	agT/agA		1		1	CFAP47	HGNC	HGNC:26708	protein_coding			ENSP00000324767			UPI000006F5CD		deleterious_low_confidence(0)		10/10																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	36144605	36144605	T	A	1	0	0	0	0	1	0	0	0	3022	1693	59	4		4	CFAP47	23	36144605	Missense_Mutation	SNP	T	C3L-00144_TP	2013387	36144605	119896290	1750	6029											
OTC	0	.	GRCh38	chrX	38411914	38411914	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttacactgcttgcccagaaAgccagaagaagtggatgatg	13	9	11	8	0	0	4	0	1	0	3	0	5	0	5	2	1	4	1	2	1	4	3	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.920A>T	p.Lys307Met	p.K307M	ENST00000039007	9/10	348	195	153	286	286	0	strelka-varscan-mutect	OTC,missense_variant,p.Lys307Met,ENST00000039007,NM_000531.5;RP5-972B16.2,intron_variant,,ENST00000465127,;	T	ENST00000039007	Transcript	missense_variant	1072/1585	920/1065	307/354	K/M	aAg/aTg		1		1	OTC	HGNC	HGNC:8512	protein_coding	YES	CCDS14247.1	ENSP00000039007	P00480		UPI000013C550	NM_000531.5	deleterious(0.01)		9/10		Gene3D:3.40.50.1370,Pfam_domain:PF00185,Prints_domain:PR00100,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF1,Superfamily_domains:SSF53671,TIGRFAM_domain:TIGR00658																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	38411914	38411914	A	T	1	0	0	0	0	1	0	0	0	11367	72	3	4		4	OTC	23	38411914	Missense_Mutation	SNP	A	C3L-00144_TP	2267309	38411914	117628981	1751	6030											
CXorf38	0	.	GRCh38	chrX	40647512	40647512	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcgccgctagctccgaCagcaccatgtctcccacttg	7	7	10	17	4	1	0	0	0	1	0	3	1	2	0	4	1	2	3	4	1	1	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.9G>A	p.=	p.L3L	ENST00000327877	1/7	91	62	29	75	75	0	strelka-varscan-mutect	CXorf38,synonymous_variant,p.=,ENST00000327877,NM_144970.2;CXorf38,5_prime_UTR_variant,,ENST00000378426,;CXorf38,5_prime_UTR_variant,,ENST00000378421,;MED14,downstream_gene_variant,,ENST00000324817,NM_004229.3;MED14,downstream_gene_variant,,ENST00000416199,;	T	ENST00000327877	Transcript	synonymous_variant	36/2118	9/960	3/319	L	ctG/ctA		1		-1	CXorf38	HGNC	HGNC:28589	protein_coding	YES	CCDS14253.1	ENSP00000330488	Q8TB03		UPI000007293E	NM_144970.2			1/7		PD661243,hmmpanther:PTHR35083																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	40647512	40647512	C	T	1	0	0	0	0	0	0	0	1	3913	465	17	3		3	CXorf38	23	40647512	Silent	SNP	C	C3L-00144_TP	2235598	40647512	115393383	1752	6031											
WNK3	0	.	GRCh38	chrX	54237470	54237470	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcttcttcactagaatGgtttgtctcactgaacactg	11	13	8	9	0	3	2	2	1	2	1	4	2	3	2	0	2	1	2	0	2	4	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.4096C>G	p.His1366Asp	p.H1366D	ENST00000354646	20/24	52	26	26	55	55	0	strelka-varscan-mutect	WNK3,missense_variant,p.His1366Asp,ENST00000354646,NM_020922.4;WNK3,missense_variant,p.His1319Asp,ENST00000375169,NM_001002838.3;WNK3,missense_variant,p.His1366Asp,ENST00000375159,;WNK3,missense_variant,p.His1366Asp,ENST00000620763,;	C	ENST00000354646	Transcript	missense_variant	4535/11341	4096/5403	1366/1800	H/D	Cat/Gat		1		-1	WNK3	HGNC	HGNC:14543	protein_coding	YES	CCDS14357.1	ENSP00000346667	Q9BYP7		UPI00001AF003	NM_020922.4	tolerated(0.25)		20/24		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF47																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	54237470	54237470	G	C	1	0	0	0	0	1	0	0	0	17935	1348	47	4		4	WNK3	23	54237470	Missense_Mutation	SNP	G	C3L-00144_TP	13589958	54237470	101803425	1753	6032											
PAGE3	0	.	GRCh38	chrX	55258520	55258520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatttaaaccgatggttGcccttcacctataagataaa	13	13	5	10	1	2	1	2	0	0	1	2	2	2	1	3	1	2	1	3	1	6	8	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.328C>G	p.Gln110Glu	p.Q110E	ENST00000374951	5/5	139	90	49	134	134	0	strelka-varscan-mutect	PAGE3,missense_variant,p.Gln110Glu,ENST00000374951,NM_001171252.1,NM_001017931.2,NM_001303613.1;PAGE3,missense_variant,p.Gln110Glu,ENST00000519203,;	C	ENST00000374951	Transcript	missense_variant	637/745	328/342	110/113	Q/E	Caa/Gaa		1		-1	PAGE3	HGNC	HGNC:4110	protein_coding	YES		ENSP00000364089	Q5JUK9		UPI0000161132	NM_001171252.1,NM_001017931.2,NM_001303613.1	tolerated(0.21)		5/5		hmmpanther:PTHR14047,hmmpanther:PTHR14047:SF1,SMART_domains:SM01379																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	55258520	55258520	G	C	1	0	0	0	0	1	0	0	0	11470	1328	46	4		4	PAGE3	23	55258520	Missense_Mutation	SNP	G	C3L-00144_TP	1021050	55258520	100782375	1754	6033											
MSN	0	.	GRCh38	chrX	65736837	65736837	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagcgtgaaatggcagaGaaggagaaagagaagattga	20	4	15	2	1	0	7	0	2	0	5	0	10	0	7	0	2	1	1	0	2	6	1	rs113359990		C3L-00144_TP	C3L-00144_NB	G	G																c.1002G>A	p.=	p.E334E	ENST00000360270	9/13	101	95	6	64	64	0	varscan-mutect	MSN,synonymous_variant,p.=,ENST00000360270,NM_002444.2;	A	ENST00000360270	Transcript	synonymous_variant	1174/3944	1002/1734	334/577	E	gaG/gaA	rs113359990,COSM403463	1		1	MSN	HGNC	HGNC:7373	protein_coding	YES	CCDS14382.1	ENSP00000353408	P26038	V9HWC0	UPI000013DA94	NM_002444.2			9/13		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF26,Gene3D:1e5wA04,PIRSF_domain:PIRSF002305,Superfamily_domains:SSF50729											0,1						LOW	1	SNV	1		0,1	1										PASS		rs113359990	.												A	2	1	12	65736837	65736837	G	A	1	0	0	0	0	0	0	0	1	9868	933	33	3		3	MSN	23	65736837	Silent	SNP	G	C3L-00144_TP	10478317	65736837	90304058	1755	6034											
EDA2R	0	.	GRCh38	chrX	66599533	66599533	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctccagcctgtctccaGtgctttcgactgtgtttccc	4	14	9	14	1	1	1	0	1	1	0	5	2	3	1	4	0	3	3	4	0	0	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.908C>G	p.Thr303Ser	p.T303S	ENST00000396050	6/7	23	15	8	16	16	0	strelka-varscan-mutect	EDA2R,missense_variant,p.Thr282Ser,ENST00000451436,NM_001199687.2;EDA2R,missense_variant,p.Thr303Ser,ENST00000396050,NM_001242310.1;EDA2R,missense_variant,p.Thr282Ser,ENST00000374719,NM_001324206.1,NM_021783.3;EDA2R,missense_variant,p.Thr303Ser,ENST00000253392,;	C	ENST00000396050	Transcript	missense_variant	918/3429	908/957	303/318	T/S	aCt/aGt		1		-1	EDA2R	HGNC	HGNC:17756	protein_coding	YES	CCDS56603.1	ENSP00000379365	Q9HAV5		UPI00001B037F	NM_001242310.1	tolerated(1)		6/7		hmmpanther:PTHR12120:SF8,hmmpanther:PTHR12120																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	12	66599533	66599533	G	C	1	0	0	0	0	1	0	0	0	4732	1029	36	4		4	EDA2R	23	66599533	Missense_Mutation	SNP	G	C3L-00144_TP	862696	66599533	89441362	1756	6035											
YIPF6	0	.	GRCh38	chrX	68513390	68513390	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtacccaaggaaaagtaatActcttttgagagattgtaag	15	12	9	5	0	1	2	0	1	1	1	1	4	1	3	1	1	2	3	1	1	7	7	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.250A>T	p.Thr84Ser	p.T84S	ENST00000462683	3/7	38	22	16	35	35	0	strelka-varscan-mutect	YIPF6,missense_variant,p.Thr84Ser,ENST00000462683,NM_173834.3;YIPF6,missense_variant,p.Thr41Ser,ENST00000374622,NM_001195214.1;YIPF6,missense_variant,p.Thr41Ser,ENST00000451537,;YIPF6,non_coding_transcript_exon_variant,,ENST00000470730,;YIPF6,non_coding_transcript_exon_variant,,ENST00000374643,;YIPF6,non_coding_transcript_exon_variant,,ENST00000496576,;YIPF6,non_coding_transcript_exon_variant,,ENST00000462972,;	T	ENST00000462683	Transcript	missense_variant	994/6741	250/711	84/236	T/S	Act/Tct		1		1	YIPF6	HGNC	HGNC:28304	protein_coding	YES	CCDS14389.1	ENSP00000417573	Q96EC8		UPI000003778F	NM_173834.3	tolerated(0.77)		3/7		hmmpanther:PTHR21236:SF1,hmmpanther:PTHR21236,Pfam_domain:PF04893																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	68513390	68513390	A	T	1	0	0	0	0	1	0	0	0	18044	391	14	4		4	YIPF6	23	68513390	Missense_Mutation	SNP	A	C3L-00144_TP	1913857	68513390	87527505	1757	6036											
FAM155B	0	.	GRCh38	chrX	69529008	69529008	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggctgtctacaaggccTggctgtgctcagaatacttc	9	10	10	12	0	2	1	1	0	1	1	3	1	2	1	1	3	3	3	1	3	4	3	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.877T>A	p.Trp293Arg	p.W293R	ENST00000252338	2/3	47	27	20	38	38	0	strelka-varscan-mutect	FAM155B,missense_variant,p.Trp293Arg,ENST00000252338,NM_015686.2;	A	ENST00000252338	Transcript	missense_variant	919/4013	877/1419	293/472	W/R	Tgg/Agg		1		1	FAM155B	HGNC	HGNC:30701	protein_coding	YES	CCDS35317.1	ENSP00000252338	O75949		UPI0000070EAA	NM_015686.2	deleterious(0)		2/3		hmmpanther:PTHR15819,hmmpanther:PTHR15819:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	69529008	69529008	T	A	1	0	0	0	0	1	0	0	0	5314	1580	55	4		4	FAM155B	23	69529008	Missense_Mutation	SNP	T	C3L-00144_TP	1015618	69529008	86511887	1758	6037											
UPRT	0	.	GRCh38	chrX	75299865	75299865	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccccccagacatttaccgGagaaaagtccttctgatgta	11	11	7	12	1	1	3	0	1	1	2	3	4	3	3	5	1	1	1	5	1	4	5	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.693G>T	p.=	p.R231R	ENST00000373383	5/7	79	47	32	77	77	0	strelka-varscan-mutect	UPRT,synonymous_variant,p.=,ENST00000373379,NM_001307944.1;UPRT,synonymous_variant,p.=,ENST00000373383,NM_145052.3;UPRT,synonymous_variant,p.=,ENST00000530743,;UPRT,non_coding_transcript_exon_variant,,ENST00000474175,;UPRT,non_coding_transcript_exon_variant,,ENST00000526850,;UPRT,downstream_gene_variant,,ENST00000531704,;UPRT,3_prime_UTR_variant,,ENST00000462237,;	T	ENST00000373383	Transcript	synonymous_variant	860/2186	693/930	231/309	R	cgG/cgT		1		1	UPRT	HGNC	HGNC:28334	protein_coding	YES	CCDS14429.1	ENSP00000362481	Q96BW1	A8KAF9	UPI000004B62E	NM_145052.3			5/7		Gene3D:3.40.50.2020,Pfam_domain:PF14681,hmmpanther:PTHR10285,Superfamily_domains:SSF53271																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	75299865	75299865	G	T	1	0	0	0	0	0	0	0	1	17540	1161	41	2		2	UPRT	23	75299865	Silent	SNP	G	C3L-00144_TP	5770857	75299865	80741030	1759	6038											
ZCCHC5	0	.	GRCh38	chrX	78658060	78658060	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtttctgggactcccGggttgctggaggcgccaggg	4	9	19	9	2	1	0	0	0	1	0	2	3	2	3	2	7	1	3	2	7	0	2	rs146639123		C3L-00144_TP	C3L-00144_NB	G	G																c.361C>A	p.=	p.R121R	ENST00000321110	2/2	17	13	4	22	22	0	strelka-varscan-mutect	ZCCHC5,synonymous_variant,p.=,ENST00000321110,NM_152694.2;	T	ENST00000321110	Transcript	synonymous_variant	657/2648	361/1428	121/475	R	Cgg/Agg	rs146639123,COSM1235553	1		-1	ZCCHC5	HGNC	HGNC:22997	protein_coding	YES	CCDS14440.1	ENSP00000316794	Q8N8U3		UPI00000710DD	NM_152694.2			2/2													0,1						LOW	1	SNV	2		0,1	1										PASS		rs146639123	.												T	2	4	12	78658060	78658060	G	T	1	0	0	0	0	0	0	0	1	18166	1115	39	1		1	ZCCHC5	23	78658060	Silent	SNP	G	C3L-00144_TP	3358195	78658060	77382835	1760	6039											
FAM46D	0	.	GRCh38	chrX	80443698	80443698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcactttcgtggatcaaatGgtatgagttaaaaaatacac	15	12	8	6	1	1	1	1	1	0	0	2	2	1	2	0	2	2	3	0	2	6	4	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1159G>T	p.Gly387Cys	p.G387C	ENST00000538312	5/5	26	15	11	38	38	0	strelka-varscan-mutect	FAM46D,missense_variant,p.Gly387Cys,ENST00000538312,NM_001170574.1;FAM46D,missense_variant,p.Gly387Cys,ENST00000308293,NM_152630.4;	T	ENST00000538312	Transcript	missense_variant	1493/3106	1159/1170	387/389	G/C	Ggt/Tgt		1		1	FAM46D	HGNC	HGNC:28399	protein_coding	YES	CCDS14446.1	ENSP00000443410	Q8NEK8		UPI0000073CF3	NM_001170574.1	deleterious_low_confidence(0)		5/5																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	80443698	80443698	G	T	1	0	0	0	0	1	0	0	0	5446	1348	47	2		2	FAM46D	23	80443698	Missense_Mutation	SNP	G	C3L-00144_TP	1785638	80443698	75597197	1761	6040											
CYLC1	0	.	GRCh38	chrX	83872908	83872908	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgacaaaagaaaactagAagaaggccagaaaccagctc	21	3	8	9	0	0	5	0	1	0	4	1	5	0	5	2	1	3	1	2	1	8	1	rs775989724		C3L-00144_TP	C3L-00144_NB	A	A																c.200A>T	p.Glu67Val	p.E67V	ENST00000329312	4/5	25	15	10	34	34	0	strelka-varscan-mutect	CYLC1,missense_variant,p.Glu67Val,ENST00000329312,NM_021118.2;CYLC1,intron_variant,,ENST00000621735,NM_001271680.1;	T	ENST00000329312	Transcript	missense_variant	237/2106	200/1956	67/651	E/V	gAa/gTa	rs775989724	1		1	CYLC1	HGNC	HGNC:2582	protein_coding	YES	CCDS35341.1	ENSP00000331556	P35663		UPI0000251E1D	NM_021118.2	deleterious(0)		4/5		hmmpanther:PTHR16742,hmmpanther:PTHR16742:SF1,Pfam_domain:PF15241																	MODERATE	1	SNV	1			1										PASS		rs775989724	.												T	3	4	12	83872908	83872908	A	T	1	0	0	0	0	1	0	0	0	3944	246	9	4		4	CYLC1	23	83872908	Missense_Mutation	SNP	A	C3L-00144_TP	3429210	83872908	72167987	1762	6041											
PCDH11X	0	.	GRCh38	chrX	92618870	92618870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaagtcattcctttgacaaCcttcactccacgccaacagg	12	10	5	14	1	2	1	2	1	0	0	4	1	4	1	4	1	2	0	4	1	4	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.3974C>A	p.Thr1325Asn	p.T1325N	ENST00000373094	7/7	279	180	99	272	272	0	strelka-varscan-mutect	PCDH11X,missense_variant,p.Thr1325Asn,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Thr1315Asn,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Thr1317Asn,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Thr1307Asn,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Thr1288Asn,ENST00000373088,NM_001168362.1;PCDH11X,3_prime_UTR_variant,,ENST00000504220,NM_001168361.1;	A	ENST00000373094	Transcript	missense_variant	4819/9179	3974/4044	1325/1347	T/N	aCc/aAc		1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4	deleterious_low_confidence(0)		7/7																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	92618870	92618870	C	A	1	0	0	0	0	1	0	0	0	11595	507	18	2		2	PCDH11X	23	92618870	Missense_Mutation	SNP	C	C3L-00144_TP	8745962	92618870	63422025	1763	6042											
FAM133A	0	.	GRCh38	chrX	93709729	93709729	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaagaaatcttgtcggTcttcatcttcttcatcaagc	12	13	7	9	1	7	2	3	0	4	2	8	3	7	2	0	1	1	0	0	1	4	4	novel		C3L-00144_TP	C3L-00144_NB	T	T																c.310T>A	p.Ser104Thr	p.S104T	ENST00000322139	3/3	115	68	47	126	125	1	strelka-varscan-mutect	FAM133A,missense_variant,p.Ser104Thr,ENST00000322139,NM_001171111.1;FAM133A,missense_variant,p.Ser104Thr,ENST00000332647,NM_173698.2,NM_001171110.1,NM_001171109.1;	A	ENST00000322139	Transcript	missense_variant	747/3292	310/747	104/248	S/T	Tct/Act		1		1	FAM133A	HGNC	HGNC:26748	protein_coding	YES	CCDS14466.1	ENSP00000318974	Q8N9E0		UPI000006FB0A	NM_001171111.1	tolerated_low_confidence(0.1)		3/3		hmmpanther:PTHR31911,hmmpanther:PTHR31911:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	4			1										PASS		.	.												A	3	1	12	93709729	93709729	T	A	1	0	0	0	0	1	0	0	0	5293	1667	58	4		4	FAM133A	23	93709729	Missense_Mutation	SNP	T	C3L-00144_TP	1090859	93709729	62331166	1764	6043											
ARMCX5	0	.	GRCh38	chrX	102603096	102603096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgataaacttgttgccctcCttaagttaactaaggatcct	11	15	6	9	0	0	1	0	1	0	0	2	2	2	2	3	1	3	2	3	1	5	7	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.955C>T	p.Leu319Phe	p.L319F	ENST00000604957	1/1	88	63	25	86	86	0	strelka-varscan-mutect	ARMCX5,missense_variant,p.Leu319Phe,ENST00000604957,NM_001168482.1,NM_001168478.1,NM_022838.3;ARMCX5,missense_variant,p.Leu319Phe,ENST00000246174,NM_001168479.1,NM_001168480.1,NM_001168485.1;ARMCX5,missense_variant,p.Leu319Phe,ENST00000372742,;ARMCX5,downstream_gene_variant,,ENST00000477663,;ARMCX5,downstream_gene_variant,,ENST00000479502,;ARMCX5,downstream_gene_variant,,ENST00000473968,;RP4-769N13.7,intron_variant,,ENST00000602441,;ARMCX5-GPRASP2,intron_variant,,ENST00000476910,;ARMCX5-GPRASP2,intron_variant,,ENST00000466616,;ARMCX5-GPRASP2,intron_variant,,ENST00000460793,;ARMCX5-GPRASP2,intron_variant,,ENST00000486740,;ARMCX5-GPRASP2,intron_variant,,ENST00000475738,;ARMCX5-GPRASP2,intron_variant,,ENST00000460026,;ARMCX5-GPRASP2,intron_variant,,ENST00000465548,;ARMCX5-GPRASP2,intron_variant,,ENST00000602366,;ARMCX5-GPRASP2,intron_variant,,ENST00000602463,;	T	ENST00000604957	Transcript	missense_variant	3577/4640	955/1677	319/558	L/F	Ctt/Ttt		1		1	ARMCX5	HGNC	HGNC:25772	protein_coding	YES	CCDS14500.1	ENSP00000474720	Q6P1M9		UPI000013CBDB	NM_001168482.1,NM_001168478.1,NM_022838.3	deleterious(0.01)		1/1		hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF12,Pfam_domain:PF04826,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE		SNV				1										PASS		.	.												T	3	4	12	102603096	102603096	C	T	1	0	0	0	0	1	0	0	0	1103	681	24	3		3	ARMCX5	23	102603096	Missense_Mutation	SNP	C	C3L-00144_TP	8893367	102603096	53437799	1765	6044											
NXF3	0	.	GRCh38	chrX	103077683	103077683	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcactagggtgaacaaGgcactctgggtcccttggtg	7	9	16	9	0	1	1	0	1	1	0	2	1	2	1	1	5	1	2	1	5	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1515C>A	p.=	p.A505A	ENST00000395065	18/20	134	97	37	105	105	0	strelka-varscan-mutect	NXF3,synonymous_variant,p.=,ENST00000395065,NM_022052.1;NXF3,downstream_gene_variant,,ENST00000427570,;NXF3,non_coding_transcript_exon_variant,,ENST00000497850,;NXF3,non_coding_transcript_exon_variant,,ENST00000470724,;NXF3,non_coding_transcript_exon_variant,,ENST00000468528,;NXF3,downstream_gene_variant,,ENST00000460791,;NXF3,downstream_gene_variant,,ENST00000494300,;	T	ENST00000395065	Transcript	synonymous_variant	1617/1938	1515/1596	505/531	A	gcC/gcA		1		-1	NXF3	HGNC	HGNC:8073	protein_coding	YES	CCDS14503.1	ENSP00000378504	Q9H4D5		UPI00000015F8	NM_022052.1			18/20		hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF12,Gene3D:3.10.450.50,Superfamily_domains:SSF54427																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	103077683	103077683	G	T	1	0	0	0	0	0	0	0	1	10857	987	35	2		2	NXF3	23	103077683	Silent	SNP	G	C3L-00144_TP	474587	103077683	52963212	1766	6045											
PLP1	0	.	GRCh38	chrX	103786584	103786584	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggcagatctttggcgactAcaagaccaccatctgcggca	11	7	10	13	2	2	2	0	0	2	2	2	3	2	2	2	3	2	2	2	3	2	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.311A>T	p.Tyr104Phe	p.Y104F	ENST00000612423	4/8	218	149	69	183	183	0	strelka-varscan-mutect	PLP1,missense_variant,p.Tyr104Phe,ENST00000612423,NM_001128834.2;PLP1,missense_variant,p.Tyr104Phe,ENST00000621218,NM_000533.4,NM_001305004.1;PLP1,missense_variant,p.Tyr104Phe,ENST00000619236,NM_199478.2;PLP1,missense_variant,p.Tyr104Phe,ENST00000434483,;PLP1,missense_variant,p.Tyr104Phe,ENST00000494475,;PLP1,missense_variant,p.Tyr104Phe,ENST00000443502,;PLP1,missense_variant,p.Tyr104Phe,ENST00000422393,;PLP1,missense_variant,p.Tyr104Phe,ENST00000455268,;PLP1,downstream_gene_variant,,ENST00000433491,;PLP1,non_coding_transcript_exon_variant,,ENST00000479569,;PLP1,non_coding_transcript_exon_variant,,ENST00000478642,;PLP1,non_coding_transcript_exon_variant,,ENST00000619257,;PLP1,non_coding_transcript_exon_variant,,ENST00000485688,;PLP1,non_coding_transcript_exon_variant,,ENST00000461231,;PLP1,intron_variant,,ENST00000465975,;PLP1,upstream_gene_variant,,ENST00000466486,;PLP1,downstream_gene_variant,,ENST00000495678,;PLP1,downstream_gene_variant,,ENST00000464776,;PLP1,upstream_gene_variant,,ENST00000494119,;PLP1,non_coding_transcript_exon_variant,,ENST00000485931,;PLP1,non_coding_transcript_exon_variant,,ENST00000476160,;PLP1,upstream_gene_variant,,ENST00000496836,;PLP1,downstream_gene_variant,,ENST00000480325,;	T	ENST00000612423	Transcript	missense_variant	591/3132	311/834	104/277	Y/F	tAc/tTc		1		1	PLP1	HGNC	HGNC:9086	protein_coding	YES	CCDS14513.1	ENSP00000481006	P60201	A8K9L3	UPI000000031E	NM_001128834.2	tolerated(1)		4/8		Pfam_domain:PF01275,Prints_domain:PR00214,hmmpanther:PTHR11683,hmmpanther:PTHR11683:SF11																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	12	103786584	103786584	A	T	1	0	0	0	0	1	0	0	0	12200	391	14	4		4	PLP1	23	103786584	Missense_Mutation	SNP	A	C3L-00144_TP	708901	103786584	52254311	1767	6046											
FAM199X	0	.	GRCh38	chrX	104186619	104186619	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacagatgaaaaactgaagCaggtatgtaaagaaaataca	21	7	8	5	0	1	4	1	2	0	2	1	4	1	4	0	1	3	3	0	1	9	3	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.727C>T	p.Gln243Ter	p.Q243*	ENST00000493442	4/6	41	28	13	29	29	0	strelka-varscan-mutect	FAM199X,stop_gained,p.Gln243Ter,ENST00000493442,NM_207318.3;FAM199X,splice_region_variant,,ENST00000299906,;	T	ENST00000493442	Transcript	stop_gained,splice_region_variant	893/7457	727/1167	243/388	Q/*	Cag/Tag		1		1	FAM199X	HGNC	HGNC:25195	protein_coding	YES	CCDS35364.1	ENSP00000417581	Q6PEV8	B0QYU2	UPI00001C2069	NM_207318.3			4/6		Pfam_domain:PF15814,hmmpanther:PTHR32003,hmmpanther:PTHR32003:SF1																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	12	104186619	104186619	C	T	1	0	0	0	0	0	1	0	0	5377	724	25	3		3	FAM199X	23	104186619	Nonsense_Mutation	SNP	C	C3L-00144_TP	400035	104186619	51854276	1768	6047											
COL4A6	0	.	GRCh38	chrX	108210001	108210001	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagtccaggcagcccaggatCcccctgagaaacaaaggcag	13	3	11	14	0	0	1	0	1	0	1	2	3	2	2	4	3	2	2	4	3	2	0	rs752125609		C3L-00144_TP	C3L-00144_NB	C	C																c.514G>C	p.Asp172His	p.D172H	ENST00000394872	8/46	62	41	21	67	67	0	strelka-varscan-mutect	COL4A6,missense_variant,p.Asp172His,ENST00000394872,NM_001287758.1;COL4A6,missense_variant,p.Asp172His,ENST00000334504,NM_033641.3;COL4A6,missense_variant,p.Asp172His,ENST00000621266,NM_001287759.1;COL4A6,missense_variant,p.Asp173His,ENST00000372216,NM_001847.3;COL4A6,missense_variant,p.Asp172His,ENST00000538570,NM_001287760.1;COL4A6,missense_variant,p.Asp172His,ENST00000545689,;COL4A6,downstream_gene_variant,,ENST00000468338,;	G	ENST00000394872	Transcript	missense_variant	748/6750	514/5124	172/1707	D/H	Gat/Cat	rs752125609	1		-1	COL4A6	HGNC	HGNC:2208	protein_coding	YES	CCDS76010.1	ENSP00000378340		A8MXH5	UPI000387C996	NM_001287758.1	deleterious(0)		8/46		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF533																	MODERATE	1	SNV	5			1										PASS		rs752125609	.												G	3	3	12	108210001	108210001	C	G	1	0	0	0	0	1	0	0	0	3484	869	30	4		4	COL4A6	23	108210001	Missense_Mutation	SNP	C	C3L-00144_TP	4023382	108210001	47830894	1769	6048											
TRPC5	0	.	GRCh38	chrX	111912521	111912521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagctccttgagctcccagcCcagacggaaggcagttagga	10	6	13	12	1	0	2	0	1	0	1	2	5	2	4	3	3	3	4	3	3	2	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.670G>T	p.Gly224Cys	p.G224C	ENST00000262839	3/11	81	51	30	84	84	0	strelka-varscan-mutect	TRPC5,missense_variant,p.Gly224Cys,ENST00000262839,NM_012471.2;	A	ENST00000262839	Transcript	missense_variant	1589/5839	670/2922	224/973	G/C	Ggc/Tgc		1		-1	TRPC5	HGNC	HGNC:12337	protein_coding	YES	CCDS14561.1	ENSP00000262839	Q9UL62		UPI00001374B6	NM_012471.2	deleterious(0)		3/11		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF24,TIGRFAM_domain:TIGR00870,Pfam_domain:PF08344																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	111912521	111912521	C	A	1	0	0	0	0	1	0	0	0	17087	623	22	2		2	TRPC5	23	111912521	Missense_Mutation	SNP	C	C3L-00144_TP	3702520	111912521	44128374	1770	6049											
TRPC5	0	.	GRCh38	chrX	111912655	111912655	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactagacacacactccAcacagttgcagcggatctgg	12	7	9	13	1	1	2	0	1	1	1	2	3	2	3	1	2	3	2	1	2	2	2	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.536T>A	p.Val179Glu	p.V179E	ENST00000262839	3/11	140	85	55	126	125	1	strelka-varscan-mutect	TRPC5,missense_variant,p.Val179Glu,ENST00000262839,NM_012471.2;	T	ENST00000262839	Transcript	missense_variant	1455/5839	536/2922	179/973	V/E	gTg/gAg		1		-1	TRPC5	HGNC	HGNC:12337	protein_coding	YES	CCDS14561.1	ENSP00000262839	Q9UL62		UPI00001374B6	NM_012471.2	tolerated(1)		3/11		Low_complexity_(Seg):seg,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF24,TIGRFAM_domain:TIGR00870,Pfam_domain:PF08344																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	111912655	111912655	A	T	1	0	0	0	0	1	0	0	0	17087	159	6	4		4	TRPC5	23	111912655	Missense_Mutation	SNP	A	C3L-00144_TP	134	111912655	44128240	1771	6050											
LUZP4	0	.	GRCh38	chrX	115303312	115303312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaaaggctactcaagatGcagaagcaactctgaggaag	15	8	10	8	0	3	3	2	1	1	2	3	4	3	4	0	2	4	3	0	2	6	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.236G>T	p.Cys79Phe	p.C79F	ENST00000371920	3/4	74	44	30	73	73	0	strelka-varscan-mutect	LUZP4,missense_variant,p.Cys79Phe,ENST00000371920,NM_016383.4;LUZP4,intron_variant,,ENST00000371921,NM_001318840.1;	T	ENST00000371920	Transcript	missense_variant	243/1701	236/942	79/313	C/F	tGc/tTc		1		1	LUZP4	HGNC	HGNC:24971	protein_coding	YES	CCDS14567.1	ENSP00000360988	Q9P127		UPI0000036093	NM_016383.4	tolerated(1)		3/4		hmmpanther:PTHR22550,hmmpanther:PTHR22550:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	12	115303312	115303312	G	T	1	0	0	0	0	1	0	0	0	8997	1319	46	2		2	LUZP4	23	115303312	Missense_Mutation	SNP	G	C3L-00144_TP	3390657	115303312	40737583	1772	6051											
KIAA1210	0	.	GRCh38	chrX	119104998	119104998	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatatactcacctgagtCgctgtcaaactcttatgtgg	11	14	7	9	1	3	1	2	1	1	0	4	1	3	1	1	1	2	1	1	1	6	5	rs764251121		C3L-00144_TP	C3L-00144_NB	C	C																c.1062G>T	p.=	p.A354A	ENST00000402510	7/14	166	109	57	135	134	1	strelka-varscan-mutect	KIAA1210,synonymous_variant,p.=,ENST00000402510,NM_020721.1;	A	ENST00000402510	Transcript	synonymous_variant	1062/7824	1062/5130	354/1709	A	gcG/gcT	rs764251121	1		-1	KIAA1210	HGNC	HGNC:29218	protein_coding	YES	CCDS48156.1	ENSP00000384670	Q9ULL0		UPI0001596C4C	NM_020721.1			7/14		hmmpanther:PTHR22118:SF15,hmmpanther:PTHR22118,Pfam_domain:PF15262																	LOW	1	SNV	5			1										PASS		rs764251121	.												A	2	1	12	119104998	119104998	C	A	1	0	0	0	0	0	0	0	1	8106	871	31	1		1	KIAA1210	23	119104998	Silent	SNP	C	C3L-00144_TP	3801686	119104998	36935897	1773	6052											
CT47B1	0	.	GRCh38	chrX	120875642	120875642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcctcctggtccccttggGtcgggtgtcggtcccctgtg	0	11	16	14	2	0	0	0	0	0	0	5	0	3	0	6	5	0	0	6	5	0	1	rs773988367		C3L-00144_TP	C3L-00144_NB	G	G																c.29C>G	p.Thr10Ser	p.T10S	ENST00000371311	1/3	153	98	55	149	149	0	varscan-mutect	CT47B1,missense_variant,p.Thr10Ser,ENST00000371311,NM_001145718.1;RP1-321E8.5,downstream_gene_variant,,ENST00000613352,;RP1-321E8.4,upstream_gene_variant,,ENST00000604718,;	C	ENST00000371311	Transcript	missense_variant	288/1328	29/900	10/299	T/S	aCc/aGc	rs773988367	1		-1	CT47B1	HGNC	HGNC:33293	protein_coding	YES	CCDS48161.1	ENSP00000360360	P0C2W7		UPI000036776D	NM_001145718.1	tolerated(0.26)		1/3		hmmpanther:PTHR32157:SF4,hmmpanther:PTHR32157,Pfam_domain:PF15623																	MODERATE		SNV	5			1										PASS		rs773988367	.												C	3	2	12	120875642	120875642	G	C	1	0	0	0	0	1	0	0	0	3791	1261	44	4		4	CT47B1	23	120875642	Missense_Mutation	SNP	G	C3L-00144_TP	1770644	120875642	35165253	1774	6053											
DCAF12L1	0	.	GRCh38	chrX	126551269	126551269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctgcagggagaggccccCcagccacaaagagcttcatc	10	4	12	15	0	1	2	1	0	0	2	2	3	1	2	5	3	3	2	5	3	1	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.1340G>T	p.Gly447Val	p.G447V	ENST00000371126	1/2	74	52	22	46	46	0	strelka-varscan-mutect	DCAF12L1,missense_variant,p.Gly447Val,ENST00000371126,NM_178470.4;	A	ENST00000371126	Transcript	missense_variant	1583/3382	1340/1392	447/463	G/V	gGg/gTg		1		-1	DCAF12L1	HGNC	HGNC:29395	protein_coding	YES	CCDS14610.1	ENSP00000360167	Q5VU92		UPI0000160112	NM_178470.4	deleterious(0)		1/2		hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	126551269	126551269	C	A	1	0	0	0	0	1	0	0	0	4065	623	22	2		2	DCAF12L1	23	126551269	Missense_Mutation	SNP	C	C3L-00144_TP	5675627	126551269	29489626	1775	6054											
DCAF12L1	0	.	GRCh38	chrX	126551585	126551585	+	Silent	SNP	G	G	T																															ctctcgagaacacaggggccGgatgttctgctggtcctggc																										C3L-00144_TP	C3L-00144_NB	G	G																c.1024C>A	p.=	p.R342R	ENST00000371126	1/2	39	25	14	48	48	0	strelka-varscan-mutect	DCAF12L1,synonymous_variant,p.=,ENST00000371126,NM_178470.4;	T	ENST00000371126	Transcript	synonymous_variant	1267/3382	1024/1392	342/463	R	Cgg/Agg	COSM4676316	1		-1	DCAF12L1	HGNC	HGNC:29395	protein_coding	YES	CCDS14610.1	ENSP00000360167	Q5VU92		UPI0000160112	NM_178470.4			1/2		Gene3D:2.130.10.10,hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF9,SMART_domains:SM00320,Superfamily_domains:SSF50978											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	12	126551585	126551585	G	T	1	0	0	0	0	0	0	0	1	4065	1115	39	1		1	DCAF12L1	23	126551585	Silent	SNP	G	C3L-00144_TP	316	126551585	29489310	1776	6055	139	2									
DCAF12L1	0	.	GRCh38	chrX	126551586	126551586	+	Silent	SNP	G	G	T																															tctcgagaacacaggggccgGatgttctgctggtcctggcg																								novel		C3L-00144_TP	C3L-00144_NB	G	G																c.1023C>A	p.=	p.I341I	ENST00000371126	1/2	37	24	13	50	49	1	strelka-varscan-mutect	DCAF12L1,synonymous_variant,p.=,ENST00000371126,NM_178470.4;	T	ENST00000371126	Transcript	synonymous_variant	1266/3382	1023/1392	341/463	I	atC/atA		1		-1	DCAF12L1	HGNC	HGNC:29395	protein_coding	YES	CCDS14610.1	ENSP00000360167	Q5VU92		UPI0000160112	NM_178470.4			1/2		Gene3D:2.130.10.10,hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF9,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	126551586	126551586	G	T	1	0	0	0	0	0	0	0	1	4065	1164	41	2		2	DCAF12L1	23	126551586	Silent	SNP	G	C3L-00144_TP	1	126551586	29489309	1777	6056	139	2									
DCAF12L1	0	.	GRCh38	chrX	126552046	126552046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttgtggccatggcggtcgCccaggcacaggggatccagg	6	6	16	13	2	0	0	0	0	0	0	2	1	1	1	4	7	0	1	4	7	0	1	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.563G>T	p.Gly188Val	p.G188V	ENST00000371126	1/2	132	88	44	128	128	0	strelka-varscan-mutect	DCAF12L1,missense_variant,p.Gly188Val,ENST00000371126,NM_178470.4;	A	ENST00000371126	Transcript	missense_variant	806/3382	563/1392	188/463	G/V	gGc/gTc		1		-1	DCAF12L1	HGNC	HGNC:29395	protein_coding	YES	CCDS14610.1	ENSP00000360167	Q5VU92		UPI0000160112	NM_178470.4	deleterious(0.03)		1/2		Gene3D:2.130.10.10,hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF9,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	12	126552046	126552046	C	A	1	0	0	0	0	1	0	0	0	4065	739	26	2		2	DCAF12L1	23	126552046	Missense_Mutation	SNP	C	C3L-00144_TP	460	126552046	29488849	1778	6057											
ACTRT1	0	.	GRCh38	chrX	128051654	128051654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctctgtgatgtccctccCtgccatacagagtttggtga	6	13	11	11	0	1	3	0	2	1	1	3	3	3	3	3	1	3	2	3	1	1	2			C3L-00144_TP	C3L-00144_NB	C	C																c.553G>A	p.Gly185Arg	p.G185R	ENST00000371124	1/1	77	41	36	65	65	0	strelka-varscan-mutect	ACTRT1,missense_variant,p.Gly185Arg,ENST00000371124,NM_138289.3;	T	ENST00000371124	Transcript	missense_variant	745/1437	553/1131	185/376	G/R	Ggg/Agg	COSM308855	1		-1	ACTRT1	HGNC	HGNC:24027	protein_coding	YES	CCDS14611.1	ENSP00000360165	Q8TDG2		UPI0000072276	NM_138289.3	deleterious(0)		1/1		Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF153,SMART_domains:SM00268,Superfamily_domains:SSF53067											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	12	128051654	128051654	C	T	1	0	0	0	0	1	0	0	0	261	681	24	3		3	ACTRT1	23	128051654	Missense_Mutation	SNP	C	C3L-00144_TP	1499608	128051654	27989241	1779	6058											
ZDHHC9	0	.	GRCh38	chrX	129823689	129823689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttactcacccacacagttGtcacagatgctgcaatggga	11	11	8	11	0	2	1	2	0	0	1	2	2	2	2	1	1	3	3	1	1	2	3	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.477C>T	p.=	p.D159D	ENST00000357166	5/11	180	126	54	160	159	1	strelka-varscan-mutect	ZDHHC9,synonymous_variant,p.=,ENST00000357166,NM_016032.3;ZDHHC9,synonymous_variant,p.=,ENST00000371064,NM_001008222.2;ZDHHC9,synonymous_variant,p.=,ENST00000406492,;ZDHHC9,synonymous_variant,p.=,ENST00000433917,;ZDHHC9,non_coding_transcript_exon_variant,,ENST00000491039,;	A	ENST00000357166	Transcript	synonymous_variant	869/4569	477/1095	159/364	D	gaC/gaT		1		-1	ZDHHC9	HGNC	HGNC:18475	protein_coding	YES	CCDS35395.1	ENSP00000349689	Q9Y397		UPI0000048EB7	NM_016032.3			5/11		Pfam_domain:PF01529,PROSITE_profiles:PS50216,hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF28																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	129823689	129823689	G	A	1	0	0	0	0	0	0	0	1	18198	1368	48	3		3	ZDHHC9	23	129823689	Silent	SNP	G	C3L-00144_TP	1772035	129823689	26217206	1780	6059											
STK26	0	.	GRCh38	chrX	132072871	132072872	+	Frame_Shift_Ins	INS	-	-	T																															ataatcacacctgcatttgcINStgaagtaagtacagattaat																								novel		C3L-00144_TP	C3L-00144_NB	-	-																c.1086dupT	p.Glu363Ter	p.E363*	ENST00000394334	10/12	73	48	25	84	84	0	sindel-varindel-pindel	STK26,frameshift_variant,p.Glu363Ter,ENST00000394334,NM_016542.3;STK26,frameshift_variant,p.Glu286Ter,ENST00000394335,NM_001042453.1;STK26,frameshift_variant,p.Glu385Ter,ENST00000481105,;STK26,frameshift_variant,p.Glu301Ter,ENST00000496850,NM_001042452.1;STK26,intron_variant,,ENST00000354719,;FRMD7,downstream_gene_variant,,ENST00000298542,NM_194277.2;FRMD7,downstream_gene_variant,,ENST00000370879,;	T	ENST00000394334	Transcript	frameshift_variant	1338-1339/3288	1085-1086/1251	362/416	A/AX	gct/gcTt		1		1	STK26	HGNC	HGNC:18174	protein_coding	YES	CCDS14631.1	ENSP00000377867	Q9P289		UPI0000030CB8	NM_016542.3			10/12		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF206																	HIGH	1	insertion	1	1		1										PASS		.	.												T	7	5	12	132072871	132072871	-	T	1	0	1	1	0	0	0	0	0	15671	811	28	0		0	STK26	23	132072871	Frame_Shift_Ins	INS	-	C3L-00144_TP	2249182	132072871	23968024	1781	6060											
CT55	0	.	GRCh38	chrX	135160503	135160503	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacatccaattaaaactctgGttcctgagtctgagggtcca	11	11	8	11	0	2	2	0	2	2	0	5	2	5	2	3	2	1	1	3	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	G	G																c.332C>G	p.Thr111Ser	p.T111S	ENST00000276241	3/6	70	47	23	64	64	0	strelka-varscan-mutect	CT55,missense_variant,p.Thr111Ser,ENST00000344129,NM_017863.2;CT55,missense_variant,p.Thr111Ser,ENST00000276241,NM_001031705.2;	C	ENST00000276241	Transcript	missense_variant	559/1445	332/795	111/264	T/S	aCc/aGc		1		-1	CT55	HGNC	HGNC:26047	protein_coding	YES	CCDS35400.1	ENSP00000276241	Q8WUE5		UPI000006D94A	NM_001031705.2	tolerated(0.38)		3/6		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF354																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	12	135160503	135160503	G	C	1	0	0	0	0	1	0	0	0	3792	1261	44	4		4	CT55	23	135160503	Missense_Mutation	SNP	G	C3L-00144_TP	3087632	135160503	20880392	1782	6061											
ARHGEF6	0	.	GRCh38	chrX	136745336	136745336	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtccacatggtctttCtgatagctgatctgtgaaaa	11	12	10	8	1	3	3	0	3	3	0	4	4	4	4	1	2	2	1	1	2	4	2	rs754597402		C3L-00144_TP	C3L-00144_NB	C	C																c.346G>T	p.Glu116Ter	p.E116*	ENST00000250617	4/22	177	111	66	182	182	0	strelka-varscan-mutect	ARHGEF6,stop_gained,p.Glu116Ter,ENST00000250617,NM_004840.2;ARHGEF6,5_prime_UTR_variant,,ENST00000370622,;ARHGEF6,5_prime_UTR_variant,,ENST00000370620,NM_001306177.1;	A	ENST00000250617	Transcript	stop_gained	1552/6019	346/2331	116/776	E/*	Gaa/Taa	rs754597402,COSM3558323	1		-1	ARHGEF6	HGNC	HGNC:685	protein_coding	YES	CCDS14660.1	ENSP00000250617	Q15052		UPI0000001C8E	NM_004840.2			4/22		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF123,Pfam_domain:PF16615,Superfamily_domains:SSF47576											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs754597402	.												A	4	1	12	136745336	136745336	C	A	1	0	0	0	0	0	1	0	0	1046	922	32	2		2	ARHGEF6	23	136745336	Nonsense_Mutation	SNP	C	C3L-00144_TP	1584833	136745336	19295559	1783	6062											
MAGEC2	0	.	GRCh38	chrX	142203184	142203184	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaggagctccctaggctcCccatagacgaagtgctccct	8	8	11	14	1	0	2	0	1	0	1	3	4	3	3	4	2	2	3	4	2	3	2	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.804G>T	p.=	p.G268G	ENST00000247452	3/3	72	44	28	75	75	0	strelka-varscan-mutect	MAGEC2,synonymous_variant,p.=,ENST00000247452,NM_016249.3;	A	ENST00000247452	Transcript	synonymous_variant	1152/1991	804/1122	268/373	G	ggG/ggT		1		-1	MAGEC2	HGNC	HGNC:13574	protein_coding	YES	CCDS14678.1	ENSP00000354660	Q9UBF1		UPI000012F059	NM_016249.3			3/3		Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29,SMART_domains:SM01373																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	142203184	142203184	C	A	1	0	0	0	0	0	0	0	1	9099	610	22	2		2	MAGEC2	23	142203184	Silent	SNP	C	C3L-00144_TP	5457848	142203184	13837711	1784	6063											
SLITRK4	0	.	GRCh38	chrX	143630046	143630046	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagttcacacttagtcccaAatctgaagggtgtgttttgc	9	13	10	9	0	2	1	1	1	1	0	3	1	3	1	1	1	1	3	1	1	3	4	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.1063T>C	p.=	p.L355L	ENST00000596188	2/2	109	95	14	93	93	0	strelka-varscan-mutect	SLITRK4,synonymous_variant,p.=,ENST00000596188,NM_001184750.2;SLITRK4,synonymous_variant,p.=,ENST00000338017,NM_173078.4;SLITRK4,synonymous_variant,p.=,ENST00000356928,NM_001184749.2;	G	ENST00000596188	Transcript	synonymous_variant	1289/8545	1063/2514	355/837	L	Ttg/Ctg		1		-1	SLITRK4	HGNC	HGNC:23502	protein_coding	YES	CCDS14679.1	ENSP00000469205	Q8IW52		UPI000004E650	NM_001184750.2			2/2																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	12	143630046	143630046	A	G	1	0	0	0	0	0	0	0	1	15036	11	1	5		5	SLITRK4	23	143630046	Silent	SNP	A	C3L-00144_TP	1426862	143630046	12410849	1785	6064											
FMR1NB	0	.	GRCh38	chrX	147981636	147981636	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatgctctccatttggatCctgctgttcgtgtgctacta	5	16	8	12	1	2	0	1	0	1	0	5	1	3	1	2	1	4	4	2	1	2	4	novel		C3L-00144_TP	C3L-00144_NB	C	C																c.234C>A	p.=	p.I78I	ENST00000370467	1/6	96	56	40	82	82	0	strelka-varscan-mutect	FMR1NB,synonymous_variant,p.=,ENST00000370467,NM_152578.2;	A	ENST00000370467	Transcript	synonymous_variant	308/1021	234/768	78/255	I	atC/atA		1		1	FMR1NB	HGNC	HGNC:26372	protein_coding	YES	CCDS14683.1	ENSP00000359498	Q8N0W7		UPI0000062299	NM_152578.2			1/6		Transmembrane_helices:TMhelix,hmmpanther:PTHR37360:SF1,hmmpanther:PTHR37360																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	12	147981636	147981636	C	A	1	0	0	0	0	0	0	0	1	5817	845	30	2		2	FMR1NB	23	147981636	Silent	SNP	C	C3L-00144_TP	4351590	147981636	8059259	1786	6065											
AVPR2	0	.	GRCh38	chrX	153906000	153906000	+	Frame_Shift_Del	DEL	C	C	-																															gccggtgctagtggcttgggCcttctcgctccttctcagcc																										C3L-00144_TP	C3L-00144_NB	C	C																c.495delC	p.Phe166SerfsTer46	p.F166Sfs*46	ENST00000358927	3/4	246	138	108	203	203	0	sindel-varindel-pindel	AVPR2,frameshift_variant,p.Phe166SerfsTer46,ENST00000358927,;AVPR2,frameshift_variant,p.Phe166SerfsTer46,ENST00000337474,NM_000054.4;AVPR2,frameshift_variant,p.Phe166SerfsTer46,ENST00000370049,NM_001146151.1;AVPR2,frameshift_variant,p.Phe166SerfsTer46,ENST00000430697,;ARHGAP4,downstream_gene_variant,,ENST00000370028,NM_001164741.1;ARHGAP4,downstream_gene_variant,,ENST00000350060,NM_001666.4;ARHGAP4,downstream_gene_variant,,ENST00000370016,;ARHGAP4,downstream_gene_variant,,ENST00000393721,;ARHGAP4,downstream_gene_variant,,ENST00000442172,;ARHGAP4,downstream_gene_variant,,ENST00000454164,;ARHGAP4,downstream_gene_variant,,ENST00000467421,;AVPR2,intron_variant,,ENST00000434679,;L1CAM,intron_variant,,ENST00000464967,;ARHGAP4,downstream_gene_variant,,ENST00000404127,;ARHGAP4,downstream_gene_variant,,ENST00000470209,;ARHGAP4,downstream_gene_variant,,ENST00000420383,;ARHGAP4,downstream_gene_variant,,ENST00000494302,;ARHGAP4,downstream_gene_variant,,ENST00000494397,;ARHGAP4,downstream_gene_variant,,ENST00000466928,;ARHGAP4,downstream_gene_variant,,ENST00000461739,;	-	ENST00000358927	Transcript	frameshift_variant	703/1763	494/1116	165/371	A/X	gCc/gc	CM025909	1		1	AVPR2	HGNC	HGNC:897	protein_coding	YES	CCDS14735.1	ENSP00000351805	P30518		UPI000005043B				3/4		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF20,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	HIGH		deletion	5	1	1	1										PASS		.	.												-	7	5	12	153906000	153906000	C	-	1	0	1	0	1	0	0	0	0	1389	739	26	0		0	AVPR2	23	153906000	Frame_Shift_Del	DEL	C	C3L-00144_TP	5924364	153906000	2134895	1787	6066											
HCFC1	0	.	GRCh38	chrX	153959908	153959908	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcagcctggggcaggagCgtgatgcctacttgggtcag	6	7	19	9	1	1	1	1	1	0	0	1	2	1	2	2	6	4	2	2	6	1	2	rs782668582		C3L-00144_TP	C3L-00144_NB	C	C																c.1338G>T	p.=	p.T446T	ENST00000310441	8/26	48	27	21	39	39	0	strelka-mutect	HCFC1,synonymous_variant,p.=,ENST00000310441,NM_005334.2;HCFC1,synonymous_variant,p.=,ENST00000369984,;HCFC1,downstream_gene_variant,,ENST00000461098,;	A	ENST00000310441	Transcript	synonymous_variant	2305/8869	1338/6108	446/2035	T	acG/acT	rs782668582	1		-1	HCFC1	HGNC	HGNC:4839	protein_coding	YES	CCDS44020.1	ENSP00000309555	P51610		UPI0000142F1F	NM_005334.2			8/26		Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,SMART_domains:SM00060																	LOW	1	SNV	1			1										PASS		rs782668582	.												A	2	1	12	153959908	153959908	C	A	1	0	0	0	0	0	0	0	1	6879	755	27	1		1	HCFC1	23	153959908	Silent	SNP	C	C3L-00144_TP	53908	153959908	2080987	1788	6067											
PCDH11Y	0	.	GRCh38	chrY	5099900	5099900	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagaaatgtgatgttacAgaccttggtttacacagagt	13	12	11	5	0	0	4	0	1	0	3	0	5	0	4	1	2	2	2	1	2	3	4	novel		C3L-00144_TP	C3L-00144_NB	A	A																c.2322A>T	p.=	p.T774T	ENST00000362095	2/3	86	77	9	128	128	0	varscan-mutect	PCDH11Y,synonymous_variant,p.=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.=,ENST00000622698,NM_001278619.1;PCDH11Y,synonymous_variant,p.=,ENST00000333703,NM_032971.2;PCDH11Y,synonymous_variant,p.=,ENST00000215473,;PCDH11Y,synonymous_variant,p.=,ENST00000362095,NM_032972.2;	T	ENST00000362095	Transcript	synonymous_variant	3056/4220	2322/3147	774/1048	T	acA/acT		1		1	PCDH11Y	HGNC	HGNC:15813	protein_coding	YES	CCDS14777.1	ENSP00000355419	Q9BZA8		UPI000006EF4D	NM_032972.2			2/3		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF25,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	12	5099900	5099900	A	T	1	0	0	0	0	0	0	0	1	11596	175	7	4		4	PCDH11Y	24	5099900	Silent	SNP	A	C3L-00144_TP		5099900	52127515	1789	6068											
SENP7	0	.	GRCh38	chr3	101332897	101332897	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacagatttgatatataaaaAttttttcatttaagataggg	16	16	7	2	0	1	3	1	1	0	2	1	4	1	3	0	1	0	0	0	1	7	10	rs774147547		C3L-00263_TP	C3L-00263_NB	A	A																c.10T>A	p.Phe4Ile	p.F4I	ENST00000394085	1/7	102	95	7	117	117	0	strelka-varscan-mutect	SENP7,missense_variant,p.Phe4Ile,ENST00000394085,;SENP7,intron_variant,,ENST00000394095,NM_020654.4;SENP7,intron_variant,,ENST00000314261,NM_001282801.1;SENP7,intron_variant,,ENST00000394094,NM_001077203.2;SENP7,intron_variant,,ENST00000394091,NM_001282803.1;SENP7,intron_variant,,ENST00000348610,NM_001282802.1;SENP7,downstream_gene_variant,,ENST00000460107,;	T	ENST00000394085	Transcript	missense_variant	373/1483	10/717	4/238	F/I	Ttt/Att	rs774147547	1		-1	SENP7	HGNC	HGNC:30402	protein_coding			ENSP00000377647	Q9BQF6		UPI000002B362				1/7		PROSITE_profiles:PS50600																	MODERATE		SNV	1			1										PASS		rs774147547	.												T	3	4	13	101332897	101332897	A	T	1	0	0	0	0	1	0	0	0	14327	101	4	4		4	SENP7	3	101332897	Missense_Mutation	SNP	A	C3L-00263_TP		101332897	96962662	1	6069											
WWC2	0	.	GRCh38	chr4	183253756	183253756	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctatctttttttttttaGtatggccaacttaaaaattg	10	21	4	6	0	2	0	0	0	2	0	2	0	2	0	1	1	1	1	1	1	7	11	novel		C3L-00263_TP	C3L-00263_NB	G	G																c.954-1G>T		p.X318_splice	ENST00000403733		77	66	11	58	57	1	varscan-mutect	WWC2,splice_acceptor_variant,,ENST00000403733,NM_024949.5;WWC2,splice_acceptor_variant,,ENST00000448232,;WWC2,splice_acceptor_variant,,ENST00000504005,;WWC2,splice_acceptor_variant,,ENST00000513834,;WWC2,splice_acceptor_variant,,ENST00000427431,;WWC2,splice_acceptor_variant,,ENST00000438543,;	T	ENST00000403733	Transcript	splice_acceptor_variant	-/8826	954/3579	318/1192				1		1	WWC2	HGNC	HGNC:24148	protein_coding	YES	CCDS34109.2	ENSP00000384222	Q6AWC2		UPI000022C4C2	NM_024949.5				8/22																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	13	183253756	183253756	G	T	1	0	0	0	0	0	0	1	0	17970	1043	36	2		2	WWC2	4	183253756	Splice_Site	SNP	G	C3L-00263_TP		183253756	6960799	2	6070											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3L-00263_TP	C3L-00263_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	307	287	20	267	267	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		11111111	1										PASS		rs121913530	.												A	3	1	13	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	C3L-00263_TP		25245351	108029958	3	6071											
UNC13C	0	.	GRCh38	chr15	54546721	54546721	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatatatatttttttttcaGattaagtctctcagcaaaaa	15	18	3	5	0	3	1	2	0	1	1	4	1	3	1	0	0	1	1	0	0	7	9	novel		C3L-00263_TP	C3L-00263_NB	G	G																c.5697-1G>T		p.X1899_splice	ENST00000260323		75	68	7	71	70	1	varscan-mutect	UNC13C,splice_acceptor_variant,,ENST00000260323,NM_001080534.1;UNC13C,splice_acceptor_variant,,ENST00000559093,;	T	ENST00000260323	Transcript	splice_acceptor_variant	-/12946	5697/6645	1899/2214				1		1	UNC13C	HGNC	HGNC:23149	protein_coding	YES	CCDS45264.1	ENSP00000260323	Q8NB66		UPI0000DD82AB	NM_001080534.1				25/31																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	13	54546721	54546721	G	T	1	0	0	0	0	0	0	1	0	17510	956	33	2		2	UNC13C	15	54546721	Splice_Site	SNP	G	C3L-00263_TP		54546721	47444468	4	6072											
USP36	0	.	GRCh38	chr17	78802472	78802472	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctcctgctttctttttttCtttttctttttccttggaga	2	25	5	9	0	4	1	0	0	4	1	6	2	5	1	2	1	1	1	2	1	0	9	rs200324254		C3L-00263_TP	C3L-00263_NB	C	C																c.2874G>A	p.=	p.K958K	ENST00000542802	17/21	42	37	5	38	38	0	varscan-mutect	USP36,synonymous_variant,p.=,ENST00000542802,NM_001321291.1;USP36,synonymous_variant,p.=,ENST00000312010,NM_025090.3;USP36,upstream_gene_variant,,ENST00000592231,;USP36,downstream_gene_variant,,ENST00000449938,;USP36,upstream_gene_variant,,ENST00000588130,;USP36,synonymous_variant,p.=,ENST00000589225,;USP36,synonymous_variant,p.=,ENST00000588086,;USP36,upstream_gene_variant,,ENST00000587010,;USP36,upstream_gene_variant,,ENST00000587379,;USP36,upstream_gene_variant,,ENST00000591052,;	T	ENST00000542802	Transcript	synonymous_variant	3318/6063	2874/3372	958/1123	K	aaG/aaA	rs200324254	1		-1	USP36	HGNC	HGNC:20062	protein_coding	YES	CCDS32755.1	ENSP00000441214	Q9P275	A0A024R8V6	UPI00000398BB	NM_001321291.1			17/21		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs200324254	.												T	2	4	13	78802472	78802472	C	T	1	0	0	0	0	0	0	0	1	17609	912	32	3		3	USP36	17	78802472	Silent	SNP	C	C3L-00263_TP		78802472	4454969	5	6073											
PHLPP1	0	.	GRCh38	chr18	62975429	62975429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgggcagaagcttggtgGtgccgctgtcctttgtcata	5	13	14	9	1	1	1	1	0	0	1	2	1	2	1	2	3	3	4	2	3	2	3	novel		C3L-00263_TP	C3L-00263_NB	G	G																c.3788G>A	p.Gly1263Asp	p.G1263D	ENST00000262719	16/17	183	170	13	173	171	2	strelka-varscan-mutect	PHLPP1,missense_variant,p.Gly1263Asp,ENST00000262719,NM_194449.3;	A	ENST00000262719	Transcript	missense_variant	4022/6390	3788/5154	1263/1717	G/D	gGt/gAt		1		1	PHLPP1	HGNC	HGNC:20610	protein_coding	YES	CCDS45881.2	ENSP00000262719	O60346		UPI000051AE2E	NM_194449.3	deleterious(0.01)		16/17		Gene3D:3.60.40.10,Pfam_domain:PF00481,PROSITE_profiles:PS51746,SMART_domains:SM00332,Superfamily_domains:SSF81606																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	13	62975429	62975429	G	A	1	0	0	0	0	1	0	0	0	11942	1261	44	3		3	PHLPP1	18	62975429	Missense_Mutation	SNP	G	C3L-00263_TP		62975429	17397856	6	6074											
HRC	0	.	GRCh38	chr19	49154659	49154659	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcctcctcctcctcctcTtctccttcatcatcttcccc	2	16	0	23	0	5	0	2	0	3	0	13	0	12	0	9	0	0	0	9	0	0	3	rs7409255		C3L-00263_TP	C3L-00263_NB	T	T																c.579A>G	p.=	p.E193E	ENST00000252825	1/6	114	107	7	102	101	1	varscan-mutect	HRC,synonymous_variant,p.=,ENST00000252825,NM_002152.2;HRC,synonymous_variant,p.=,ENST00000595625,;PPFIA3,downstream_gene_variant,,ENST00000334186,NM_003660.3;PPFIA3,downstream_gene_variant,,ENST00000602351,;TRPM4,upstream_gene_variant,,ENST00000252826,NM_017636.3;TRPM4,upstream_gene_variant,,ENST00000427978,NM_001195227.1;TRPM4,upstream_gene_variant,,ENST00000599628,;PPFIA3,downstream_gene_variant,,ENST00000602848,;PPFIA3,downstream_gene_variant,,ENST00000602897,;TRPM4,upstream_gene_variant,,ENST00000598691,;HRC,upstream_gene_variant,,ENST00000598858,;TRPM4,upstream_gene_variant,,ENST00000596338,;TRPM4,upstream_gene_variant,,ENST00000595519,NM_001321283.1;TRPM4,upstream_gene_variant,,ENST00000598502,NM_001321282.1;PPFIA3,downstream_gene_variant,,ENST00000602655,;TRPM4,upstream_gene_variant,,ENST00000598697,NM_001321285.1;PPFIA3,downstream_gene_variant,,ENST00000602783,;PPFIA3,downstream_gene_variant,,ENST00000602905,;HRC,upstream_gene_variant,,ENST00000595167,;	C	ENST00000252825	Transcript	synonymous_variant	766/2385	579/2100	193/699	E	gaA/gaG	rs7409255	1		-1	HRC	HGNC	HGNC:5178	protein_coding	YES	CCDS12759.1	ENSP00000252825	P23327		UPI0000135F21	NM_002152.2			1/6		hmmpanther:PTHR15054,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs7409255	.												C	2	2	13	49154659	49154659	T	C	1	0	0	0	0	0	0	0	1	7247	1606	56	5		5	HRC	19	49154659	Silent	SNP	T	C3L-00263_TP		49154659	9462957	7	6075											
AGRN	0	.	GRCh38	chr1	1022206	1022206	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatgtccaccccaggttcgGgtctggcggtacttgaaggg	6	9	14	12	2	1	1	0	1	1	0	3	1	2	1	4	5	1	2	4	5	2	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.207G>T	p.=	p.R69R	ENST00000379370	2/36	385	346	39	306	306	0	strelka-varscan-mutect	AGRN,synonymous_variant,p.=,ENST00000379370,NM_198576.3;AGRN,5_prime_UTR_variant,,ENST00000620552,NM_001305275.1;	T	ENST00000379370	Transcript	synonymous_variant	257/7323	207/6138	69/2045	R	cgG/cgT		1		1	AGRN	HGNC	HGNC:329	protein_coding	YES	CCDS30551.1	ENSP00000368678	O00468		UPI00001D7C8B	NM_198576.3			2/36		Gene3D:2.40.50.120,Pfam_domain:PF03146,PROSITE_profiles:PS51121,Superfamily_domains:SSF50242																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	1022206	1022206	G	T	1	0	0	0	0	0	0	0	1	476	1246	43	2		2	AGRN	1	1022206	Silent	SNP	G	C3L-00279_TP		1022206	247934216	1	6076											
CCDC27	0	.	GRCh38	chr1	3763756	3763756	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttccaagaaacccagctgCgaaagatcaatacggaaaat	18	7	7	9	2	1	2	1	0	0	2	2	4	2	3	2	1	4	1	2	1	7	2	rs762081181		C3L-00279_TP	C3L-00279_NB	C	C																c.1372C>T	p.Arg458Ter	p.R458*	ENST00000294600	8/12	242	221	21	188	188	0	strelka-varscan-mutect	CCDC27,stop_gained,p.Arg458Ter,ENST00000294600,NM_152492.2;CCDC27,3_prime_UTR_variant,,ENST00000462521,;	T	ENST00000294600	Transcript	stop_gained	1456/2176	1372/1971	458/656	R/*	Cga/Tga	rs762081181	1		1	CCDC27	HGNC	HGNC:26546	protein_coding	YES	CCDS50.1	ENSP00000294600	Q2M243		UPI000013E186	NM_152492.2			8/12		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18853:SF8,hmmpanther:PTHR18853																	HIGH	1	SNV	1			1										PASS		rs762081181	.												T	4	4	14	3763756	3763756	C	T	1	0	0	0	0	0	1	0	0	2511	760	27	1		1	CCDC27	1	3763756	Nonsense_Mutation	SNP	C	C3L-00279_TP	2741550	3763756	245192666	2	6077											
PLEKHG5	0	.	GRCh38	chr1	6471539	6471539	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtagcagcgctcgcgtgcgCcgcgccttctccagcaccgg	4	7	13	17	7	1	0	0	0	1	0	3	0	1	0	4	1	4	4	4	1	1	2	rs775775743		C3L-00279_TP	C3L-00279_NB	C	C																c.1467G>A	p.=	p.R489R	ENST00000537245	13/22	188	168	20	181	181	0	strelka-varscan-mutect	PLEKHG5,synonymous_variant,p.=,ENST00000377748,NM_198681.3;PLEKHG5,synonymous_variant,p.=,ENST00000537245,NM_001265592.1;PLEKHG5,synonymous_variant,p.=,ENST00000535355,NM_001265593.1;PLEKHG5,synonymous_variant,p.=,ENST00000340850,NM_001042664.1;PLEKHG5,synonymous_variant,p.=,ENST00000400913,NM_001042665.1;PLEKHG5,synonymous_variant,p.=,ENST00000377732,;PLEKHG5,synonymous_variant,p.=,ENST00000400915,NM_001042663.1;PLEKHG5,synonymous_variant,p.=,ENST00000377728,NM_020631.4;PLEKHG5,synonymous_variant,p.=,ENST00000377740,;PLEKHG5,synonymous_variant,p.=,ENST00000377725,NM_001265594.1;PLEKHG5,non_coding_transcript_exon_variant,,ENST00000489097,;PLEKHG5,non_coding_transcript_exon_variant,,ENST00000487949,;	T	ENST00000537245	Transcript	synonymous_variant	1532/4794	1467/3258	489/1085	R	cgG/cgA	rs775775743	1		-1	PLEKHG5	HGNC	HGNC:29105	protein_coding	YES	CCDS57969.1	ENSP00000439625	O94827		UPI000206539E	NM_001265592.1			13/22		PROSITE_profiles:PS50010,hmmpanther:PTHR13217,hmmpanther:PTHR13217:SF9,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065																	LOW	1	SNV	2			1										PASS		rs775775743	.												T	2	4	14	6471539	6471539	C	T	1	0	0	0	0	0	0	0	1	12166	726	26	3		3	PLEKHG5	1	6471539	Silent	SNP	C	C3L-00279_TP	2707783	6471539	242484883	3	6078											
PRAMEF2	0	.	GRCh38	chr1	12860273	12860273	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggaacagctgatcaggTgagaaaggattgtgcacttt	12	10	12	7	0	1	2	1	2	0	1	1	5	1	4	1	3	3	2	1	3	2	2			C3L-00279_TP	C3L-00279_NB	T	T																c.866+2T>G		p.X289_splice	ENST00000240189		301	256	45	264	264	0	strelka-varscan-mutect	PRAMEF2,splice_donor_variant,,ENST00000240189,NM_023014.1;	G	ENST00000240189	Transcript	splice_donor_variant	-/1642	866/1425	289/474			COSM4021493	1		1	PRAMEF2	HGNC	HGNC:28841	protein_coding	YES	CCDS149.1	ENSP00000240189	O60811		UPI0000139EF9	NM_023014.1				3/3												1						HIGH	1	SNV	1		1	1										PASS		.	.												G	5	3	14	12860273	12860273	T	G	1	0	0	0	0	0	0	1	0	12562	1710	59	5		5	PRAMEF2	1	12860273	Splice_Site	SNP	T	C3L-00279_TP	6388734	12860273	236096149	4	6079											
ATP13A2	0	.	GRCh38	chr1	17005700	17005700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaccacggatgaaactgagGagctgaggggatctattgat	12	10	13	6	1	1	4	0	4	1	0	1	7	1	7	1	4	3	1	1	4	3	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.89C>A	p.Ser30Tyr	p.S30Y	ENST00000326735	2/29	503	443	60	423	423	0	strelka-varscan-mutect	ATP13A2,missense_variant,p.Ser30Tyr,ENST00000452699,NM_001141973.2;ATP13A2,missense_variant,p.Ser30Tyr,ENST00000326735,NM_022089.3;ATP13A2,missense_variant,p.Ser30Tyr,ENST00000341676,NM_001141974.2;ATP13A2,missense_variant,p.Ser6Tyr,ENST00000510069,;ATP13A2,missense_variant,p.Ser23Tyr,ENST00000509619,;ATP13A2,5_prime_UTR_variant,,ENST00000617114,;ATP13A2,upstream_gene_variant,,ENST00000511957,;ATP13A2,upstream_gene_variant,,ENST00000508222,;RP1-37C10.3,downstream_gene_variant,,ENST00000446261,;ATP13A2,upstream_gene_variant,,ENST00000463860,;	T	ENST00000326735	Transcript	missense_variant	123/3840	89/3543	30/1180	S/Y	tCc/tAc		1		-1	ATP13A2	HGNC	HGNC:30213	protein_coding	YES	CCDS175.1	ENSP00000327214	Q9NQ11		UPI0000049724	NM_022089.3	deleterious(0)		2/29		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF86,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	17005700	17005700	G	T	1	0	0	0	0	1	0	0	0	1276	1174	41	2		2	ATP13A2	1	17005700	Missense_Mutation	SNP	G	C3L-00279_TP	4145427	17005700	231950722	5	6080											
UBR4	0	.	GRCh38	chr1	19081705	19081705	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatgactcaacactcccCacccatccttgccgactact	9	10	5	17	1	1	1	1	1	0	0	3	3	3	2	5	1	3	0	5	1	2	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.102G>T	p.=	p.V34V	ENST00000375225	1/4	294	256	38	213	213	0	strelka-varscan-mutect	UBR4,synonymous_variant,p.=,ENST00000375225,;UBR4,intron_variant,,ENST00000375254,NM_020765.2;UBR4,intron_variant,,ENST00000375224,;UBR4,upstream_gene_variant,,ENST00000486515,;UBR4,upstream_gene_variant,,ENST00000459947,;	A	ENST00000375225	Transcript	synonymous_variant	536/1533	102/777	34/258	V	gtG/gtT		1		-1	UBR4	HGNC	HGNC:30313	protein_coding			ENSP00000364373		Q5TBN9	UPI000040DD3B				1/4																			LOW		SNV	2			1										PASS		.	.												A	2	1	14	19081705	19081705	C	A	1	0	0	0	0	0	0	0	1	17428	581	21	2		2	UBR4	1	19081705	Silent	SNP	C	C3L-00279_TP	2076005	19081705	229874717	6	6081											
KIF17	0	.	GRCh38	chr1	20684928	20684928	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggggctcaggctgagcCaccagggccaccggggcctg	6	3	18	14	1	1	1	1	1	0	0	1	1	1	1	5	7	1	3	5	7	0	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2112G>T	p.=	p.V704V	ENST00000247986	10/15	406	354	52	332	331	1	strelka-varscan-mutect	KIF17,synonymous_variant,p.=,ENST00000247986,NM_020816.3;KIF17,synonymous_variant,p.=,ENST00000400463,NM_001122819.2;KIF17,synonymous_variant,p.=,ENST00000375044,NM_001287212.1;KIF17,non_coding_transcript_exon_variant,,ENST00000490034,;KIF17,non_coding_transcript_exon_variant,,ENST00000477167,;KIF17,non_coding_transcript_exon_variant,,ENST00000462858,;KIF17,non_coding_transcript_exon_variant,,ENST00000498225,;	A	ENST00000247986	Transcript	synonymous_variant	2423/3969	2112/3090	704/1029	V	gtG/gtT		1		-1	KIF17	HGNC	HGNC:19167	protein_coding	YES	CCDS213.1	ENSP00000247986	Q9P2E2		UPI0000185F1A	NM_020816.3			10/15		hmmpanther:PTHR24115:SF355,hmmpanther:PTHR24115																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	20684928	20684928	C	A	1	0	0	0	0	0	0	0	1	8143	581	21	2		2	KIF17	1	20684928	Silent	SNP	C	C3L-00279_TP	1603223	20684928	228271494	7	6082											
EPHB2	0	.	GRCh38	chr1	22865035	22865035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgcctgcacccgctgcGgggacaatgtacagtacgca	8	6	15	12	3	0	0	0	0	0	0	0	1	0	1	2	4	5	5	2	4	3	2			C3L-00279_TP	C3L-00279_NB	G	G																c.1126G>A	p.Gly376Arg	p.G376R	ENST00000374632	5/16	168	142	26	131	131	0	strelka-varscan-mutect	EPHB2,missense_variant,p.Gly376Arg,ENST00000400191,NM_001309193.1;EPHB2,missense_variant,p.Gly370Arg,ENST00000374627,;EPHB2,missense_variant,p.Gly376Arg,ENST00000374632,NM_004442.6;EPHB2,missense_variant,p.Gly376Arg,ENST00000374630,NM_017449.3;EPHB2,missense_variant,p.Gly376Arg,ENST00000544305,;MIR4253,upstream_gene_variant,,ENST00000581187,;EPHB2,non_coding_transcript_exon_variant,,ENST00000465676,;EPHB2,upstream_gene_variant,,ENST00000490436,;	A	ENST00000374632	Transcript	missense_variant	1139/3677	1126/2964	376/987	G/R	Ggg/Agg	COSM3864746,COSM3864747,COSM3864748	1		1	EPHB2	HGNC	HGNC:3393	protein_coding	YES	CCDS230.1	ENSP00000363763	P29323		UPI000016135C	NM_004442.6	tolerated(0.09)		5/16		Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF123,SMART_domains:SM00060,Superfamily_domains:SSF49265,Superfamily_domains:SSF57184											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs1444928620	.												A	3	1	14	22865035	22865035	G	A	1	0	0	0	0	1	0	0	0	5022	1116	39	1		1	EPHB2	1	22865035	Missense_Mutation	SNP	G	C3L-00279_TP	2180107	22865035	226091387	8	6083											
MAN1C1	0	.	GRCh38	chr1	25758593	25758593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttctgtcttttcagtGggaactggggctgggccaca	5	12	14	10	0	3	0	1	0	2	0	3	1	3	1	1	4	2	3	1	4	1	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.931G>T	p.Gly311Trp	p.G311W	ENST00000374332	6/12	255	217	38	187	186	1	strelka-varscan-mutect	MAN1C1,missense_variant,p.Gly101Trp,ENST00000611903,;MAN1C1,missense_variant,p.Gly311Trp,ENST00000374332,NM_020379.3,NM_001289010.1;MAN1C1,missense_variant,p.Gly131Trp,ENST00000263979,;MAN1C1,missense_variant,p.Gly82Trp,ENST00000374329,;MAN1C1,splice_region_variant,,ENST00000473891,;	T	ENST00000374332	Transcript	missense_variant,splice_region_variant	1261/4641	931/1893	311/630	G/W	Ggg/Tgg		1		1	MAN1C1	HGNC	HGNC:19080	protein_coding	YES	CCDS265.1	ENSP00000363452	Q9NR34		UPI000012EABD	NM_020379.3,NM_001289010.1	deleterious(0.02)		6/12		hmmpanther:PTHR11742:SF28,hmmpanther:PTHR11742,Gene3D:1.50.10.50,Pfam_domain:PF01532,Superfamily_domains:SSF48225,Prints_domain:PR00747																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	25758593	25758593	G	T	1	0	0	0	0	1	0	0	0	9134	1362	47	2		2	MAN1C1	1	25758593	Missense_Mutation	SNP	G	C3L-00279_TP	2893558	25758593	223197829	9	6084											
TRIM63	0	.	GRCh38	chr1	26057228	26057228	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaagtcaatggctctcagGgcgtctgctatgtgctctaa	9	11	10	11	1	4	0	2	0	3	0	5	0	4	0	1	2	2	3	1	2	4	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.954C>T	p.=	p.A318A	ENST00000374272	7/9	199	174	25	161	161	0	strelka-varscan-mutect	TRIM63,synonymous_variant,p.=,ENST00000374272,NM_032588.3;TRIM63,downstream_gene_variant,,ENST00000483052,;	A	ENST00000374272	Transcript	synonymous_variant	1093/1770	954/1062	318/353	A	gcC/gcT		1		-1	TRIM63	HGNC	HGNC:16007	protein_coding	YES	CCDS273.1	ENSP00000363390	Q969Q1		UPI00000437F6	NM_032588.3			7/9		PROSITE_profiles:PS51262,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF279																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	26057228	26057228	G	A	1	0	0	0	0	0	0	0	1	17030	1219	43	3		3	TRIM63	1	26057228	Silent	SNP	G	C3L-00279_TP	298635	26057228	222899194	10	6085											
ZNF683	0	.	GRCh38	chr1	26368532	26368532	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctcccagggccatgggccTatgacaacaacctaattgtg	11	8	9	13	0	0	1	0	1	0	0	1	1	1	1	5	2	2	0	5	2	4	3	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.40A>T	p.Arg14Trp	p.R14W	ENST00000436292	2/7	147	129	18	101	101	0	strelka-varscan-mutect	ZNF683,missense_variant,p.Arg14Trp,ENST00000436292,NM_001307925.1;ZNF683,missense_variant,p.Arg14Trp,ENST00000403843,;ZNF683,missense_variant,p.Arg14Trp,ENST00000349618,NM_001114759.1,NM_173574.2;ZNF683,missense_variant,p.Arg22Trp,ENST00000455900,;ZNF683,missense_variant,p.Arg14Trp,ENST00000451801,;ZNF683,missense_variant,p.Arg14Trp,ENST00000416125,;ZNF683,missense_variant,p.Arg22Trp,ENST00000423508,;ZNF683,missense_variant,p.Arg14Trp,ENST00000453132,;ZNF683,missense_variant,p.Arg14Trp,ENST00000454975,;	A	ENST00000436292	Transcript	missense_variant	161/1712	40/1575	14/524	R/W	Agg/Tgg		1		-1	ZNF683	HGNC	HGNC:28495	protein_coding	YES	CCDS76126.1	ENSP00000388792	Q8IZ20		UPI0000EE2F2D	NM_001307925.1	deleterious_low_confidence(0)		2/7																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	14	26368532	26368532	T	A	1	0	0	0	0	1	0	0	0	18663	1521	53	4		4	ZNF683	1	26368532	Missense_Mutation	SNP	T	C3L-00279_TP	311304	26368532	222587890	11	6086											
OPRD1	0	.	GRCh38	chr1	28812515	28812515	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcgcgcggagcgcctcGtccctcgccctggcaatcgc	4	5	13	19	7	0	0	0	0	0	0	4	1	1	1	4	3	1	1	4	3	1	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.132G>T	p.=	p.S44S	ENST00000234961	1/3	223	187	36	188	187	1	strelka-varscan-mutect	OPRD1,synonymous_variant,p.=,ENST00000234961,NM_000911.3;OPRD1,synonymous_variant,p.=,ENST00000621425,;	T	ENST00000234961	Transcript	synonymous_variant	374/9345	132/1119	44/372	S	tcG/tcT		1		1	OPRD1	HGNC	HGNC:8153	protein_coding	YES	CCDS329.1	ENSP00000234961	P41143		UPI0000130D94	NM_000911.3			1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24229:SF2,hmmpanther:PTHR24229,Gene3D:1.20.1070.10,Prints_domain:PR00525																	LOW	1	SNV	1			1										PASS		rs1393775005	.												T	2	4	14	28812515	28812515	G	T	1	0	0	0	0	0	0	0	1	10960	1132	40	1		1	OPRD1	1	28812515	Silent	SNP	G	C3L-00279_TP	2443983	28812515	220143907	12	6087											
AGO1	0	.	GRCh38	chr1	35917699	35917699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaacgccatcacacccGccttttctgtgctgacaaga	11	8	8	14	2	2	3	1	1	1	2	2	3	2	3	3	0	2	2	3	0	2	2			C3L-00279_TP	C3L-00279_NB	G	G																c.2135G>T	p.Arg712Leu	p.R712L	ENST00000373204	16/19	166	148	18	154	154	0	strelka-varscan-mutect	AGO1,missense_variant,p.Arg712Leu,ENST00000373204,NM_012199.2;AGO1,missense_variant,p.Arg637Leu,ENST00000373206,;AGO1,3_prime_UTR_variant,,ENST00000635259,;	T	ENST00000373204	Transcript	missense_variant	2348/13708	2135/2574	712/857	R/L	cGc/cTc	COSM1205108	1		1	AGO1	HGNC	HGNC:3262	protein_coding	YES	CCDS398.1	ENSP00000362300	Q9UL18		UPI000012D07D	NM_012199.2	deleterious(0)		16/19		PROSITE_profiles:PS50822,hmmpanther:PTHR22891:SF17,hmmpanther:PTHR22891,Pfam_domain:PF02171,Gene3D:3.30.420.10,SMART_domains:SM00950,Superfamily_domains:SSF53098											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	14	35917699	35917699	G	T	1	0	0	0	0	1	0	0	0	464	1087	38	1		1	AGO1	1	35917699	Missense_Mutation	SNP	G	C3L-00279_TP	7105184	35917699	213038723	13	6088											
HEYL	0	.	GRCh38	chr1	39627057	39627057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggagagaaggcgaatcCggacggggtctgcacggctg	8	5	20	8	4	1	1	0	0	1	1	2	5	2	3	1	7	1	2	1	7	2	0	rs367972512		C3L-00279_TP	C3L-00279_NB	C	C																c.437G>T	p.Arg146Leu	p.R146L	ENST00000372852	5/5	348	318	30	265	265	0	strelka-varscan-mutect	HEYL,missense_variant,p.Arg146Leu,ENST00000372852,NM_014571.3;	A	ENST00000372852	Transcript	missense_variant	757/3661	437/987	146/328	R/L	cGg/cTg	rs367972512,COSM4985793	1		-1	HEYL	HGNC	HGNC:4882	protein_coding	YES	CCDS439.1	ENSP00000361943	Q9NQ87		UPI000013E317	NM_014571.3	deleterious(0)		5/5		Superfamily_domains:0053813,Pfam_domain:PF07527,PROSITE_profiles:PS51054,hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF79,SMART_domains:SM00511											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs367972512	.												A	3	1	14	39627057	39627057	C	A	1	0	0	0	0	1	0	0	0	6964	652	23	1		1	HEYL	1	39627057	Missense_Mutation	SNP	C	C3L-00279_TP	3709358	39627057	209329365	14	6089											
P3H1	0	.	GRCh38	chr1	42766813	42766813	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttccatgctcaggaccacCccgggccagtccccgcgcgc	5	5	11	20	5	1	0	1	0	0	0	3	1	3	1	7	2	1	2	7	2	0	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.159G>T	p.=	p.G53G	ENST00000236040	1/14	410	343	67	320	320	0	strelka-mutect	P3H1,synonymous_variant,p.=,ENST00000236040,NM_001243246.1;P3H1,synonymous_variant,p.=,ENST00000397054,NM_001146289.1;P3H1,synonymous_variant,p.=,ENST00000296388,NM_022356.3;P3H1,synonymous_variant,p.=,ENST00000372526,;C1orf50,upstream_gene_variant,,ENST00000372525,NM_024097.3;C1orf50,upstream_gene_variant,,ENST00000468913,;P3H1,non_coding_transcript_exon_variant,,ENST00000492956,;P3H1,non_coding_transcript_exon_variant,,ENST00000495874,;P3H1,non_coding_transcript_exon_variant,,ENST00000460031,;RP5-994D16.12,upstream_gene_variant,,ENST00000603943,;P3H1,upstream_gene_variant,,ENST00000463465,;RP5-994D16.12,upstream_gene_variant,,ENST00000464081,;	A	ENST00000236040	Transcript	synonymous_variant	200/2993	159/2415	53/804	G	ggG/ggT		1		-1	P3H1	HGNC	HGNC:19316	protein_coding	YES	CCDS57986.1	ENSP00000236040	Q32P28		UPI000013E32E	NM_001243246.1			1/14		hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF5																	LOW		SNV	2			1										PASS		rs1484901390	.												A	2	1	14	42766813	42766813	C	A	1	0	0	0	0	0	0	0	1	11429	610	22	2		2	P3H1	1	42766813	Silent	SNP	C	C3L-00279_TP	3139756	42766813	206189609	15	6090											
RPS8	0	.	GRCh38	chr1	44777679	44777679	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaataacgagctggttcgtAccaagaccctggtgaagaat	13	9	10	9	2	0	3	0	1	0	2	1	4	0	3	2	2	3	3	2	2	6	4	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.277A>T	p.Thr93Ser	p.T93S	ENST00000396651	4/6	286	249	37	214	214	0	strelka-mutect	RPS8,missense_variant,p.Thr93Ser,ENST00000396651,NM_001012.1;RPS8,missense_variant,p.Thr73Ser,ENST00000372209,;SNORD46,downstream_gene_variant,,ENST00000364043,;SNORD55,downstream_gene_variant,,ENST00000581525,;SNORD38A,upstream_gene_variant,,ENST00000365161,;SNORD38B,upstream_gene_variant,,ENST00000625943,;SNORD38B,upstream_gene_variant,,ENST00000384690,;RP11-269F19.2,upstream_gene_variant,,ENST00000428791,;RPS8,non_coding_transcript_exon_variant,,ENST00000485390,;RPS8,non_coding_transcript_exon_variant,,ENST00000464658,;RPS8,non_coding_transcript_exon_variant,,ENST00000484599,;RPS8,non_coding_transcript_exon_variant,,ENST00000497035,;RPS8,downstream_gene_variant,,ENST00000470475,;RPS8,upstream_gene_variant,,ENST00000474582,;RPS15AP11,downstream_gene_variant,,ENST00000594193,;	T	ENST00000396651	Transcript	missense_variant	437/881	277/627	93/208	T/S	Acc/Tcc		1		1	RPS8	HGNC	HGNC:10441	protein_coding	YES	CCDS513.1	ENSP00000379888	P62241	Q5JR94	UPI000015D557	NM_001012.1	deleterious(0)		4/6		Pfam_domain:PF01201,hmmpanther:PTHR10394,TIGRFAM_domain:TIGR00307																	MODERATE	1	SNV	1			1										PASS		rs900337622	.												T	3	4	14	44777679	44777679	A	T	1	0	0	0	0	1	0	0	0	13916	391	14	4		4	RPS8	1	44777679	Missense_Mutation	SNP	A	C3L-00279_TP	2010866	44777679	204178743	16	6091											
UROD	0	.	GRCh38	chr1	45014811	45014811	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtggttgggcttgacTggacagtggccccaaagaaa	11	8	15	7	0	0	3	0	2	0	1	0	4	0	4	2	5	0	2	2	5	2	2			C3L-00279_TP	C3L-00279_NB	T	T																c.850T>G	p.Trp284Gly	p.W284G	ENST00000246337	8/10	303	260	43	247	246	1	strelka-varscan-mutect	UROD,missense_variant,p.Trp284Gly,ENST00000246337,NM_000374.4;UROD,missense_variant,p.Trp284Gly,ENST00000636836,;UROD,missense_variant,p.Trp238Gly,ENST00000636293,;UROD,missense_variant,p.Trp224Gly,ENST00000428106,;ZSWIM5,downstream_gene_variant,,ENST00000359600,NM_020883.1;HECTD3,upstream_gene_variant,,ENST00000372172,NM_024602.5;UROD,downstream_gene_variant,,ENST00000434478,;UROD,non_coding_transcript_exon_variant,,ENST00000494399,;UROD,non_coding_transcript_exon_variant,,ENST00000472254,;UROD,non_coding_transcript_exon_variant,,ENST00000478467,;UROD,non_coding_transcript_exon_variant,,ENST00000465678,;UROD,non_coding_transcript_exon_variant,,ENST00000466193,;UROD,downstream_gene_variant,,ENST00000469548,;UROD,downstream_gene_variant,,ENST00000463092,;UROD,downstream_gene_variant,,ENST00000486699,;UROD,downstream_gene_variant,,ENST00000462688,;UROD,downstream_gene_variant,,ENST00000491300,;UROD,downstream_gene_variant,,ENST00000490385,;UROD,downstream_gene_variant,,ENST00000460906,;UROD,downstream_gene_variant,,ENST00000496439,;UROD,downstream_gene_variant,,ENST00000491773,;UROD,downstream_gene_variant,,ENST00000460334,;UROD,downstream_gene_variant,,ENST00000473012,;UROD,downstream_gene_variant,,ENST00000461035,;	G	ENST00000246337	Transcript	missense_variant	969/1300	850/1104	284/367	W/G	Tgg/Ggg	CM091819	1		1	UROD	HGNC	HGNC:12591	protein_coding	YES	CCDS518.1	ENSP00000246337	P06132		UPI0000112E85	NM_000374.4	deleterious(0)		8/10		Gene3D:3.20.20.210,HAMAP:MF_00218,Pfam_domain:PF01208,hmmpanther:PTHR21091,hmmpanther:PTHR21091:SF2,Superfamily_domains:SSF51726,TIGRFAM_domain:TIGR01464																	MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	14	45014811	45014811	T	G	1	0	0	0	0	1	0	0	0	17561	1580	55	5		5	UROD	1	45014811	Missense_Mutation	SNP	T	C3L-00279_TP	237132	45014811	203941611	17	6092											
CYP4X1	0	.	GRCh38	chr1	47036151	47036151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttccagaagttaagccGagtgttgaatcagtacacag	12	9	10	10	2	1	2	1	1	0	1	2	3	2	2	3	0	2	4	3	0	4	4	rs114619570		C3L-00279_TP	C3L-00279_NB	G	G																c.755G>T	p.Arg252Leu	p.R252L	ENST00000371901	6/12	97	87	10	67	67	0	strelka-varscan-mutect	CYP4X1,missense_variant,p.Arg252Leu,ENST00000371901,NM_178033.1;CYP4X1,non_coding_transcript_exon_variant,,ENST00000466294,;	T	ENST00000371901	Transcript	missense_variant	1005/2357	755/1530	252/509	R/L	cGa/cTa	rs114619570	1		1	CYP4X1	HGNC	HGNC:20244	protein_coding	YES	CCDS544.1	ENSP00000360968	Q8N118		UPI000003F043	NM_178033.1	deleterious(0)		6/12		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF55,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		rs114619570	.												T	3	4	14	47036151	47036151	G	T	1	0	0	0	0	1	0	0	0	3996	1058	37	1		1	CYP4X1	1	47036151	Missense_Mutation	SNP	G	C3L-00279_TP	2021340	47036151	201920271	18	6093											
SLC5A9	0	.	GRCh38	chr1	48239451	48239451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaaggacttccactacCtgtactttgcaatcctcctc	8	13	6	14	0	0	1	0	1	0	0	4	2	3	2	4	1	4	3	4	1	4	4			C3L-00279_TP	C3L-00279_NB	C	C																c.1666C>A	p.Leu556Met	p.L556M	ENST00000236495	13/15	254	219	35	281	281	0	strelka-varscan-mutect	SLC5A9,missense_variant,p.Leu556Met,ENST00000236495,NM_001135181.1;SLC5A9,missense_variant,p.Leu531Met,ENST00000438567,NM_001011547.2;SLC5A9,missense_variant,p.Leu552Met,ENST00000533824,;SLC5A9,non_coding_transcript_exon_variant,,ENST00000525901,;SLC5A9,upstream_gene_variant,,ENST00000471020,;SLC5A9,missense_variant,p.Leu23Met,ENST00000532322,;SLC5A9,3_prime_UTR_variant,,ENST00000425816,;SLC5A9,non_coding_transcript_exon_variant,,ENST00000493837,;SLC5A9,downstream_gene_variant,,ENST00000441260,;	A	ENST00000236495	Transcript	missense_variant	1716/3272	1666/2121	556/706	L/M	Ctg/Atg	COSM3805485	1		1	SLC5A9	HGNC	HGNC:22146	protein_coding	YES	CCDS44136.1	ENSP00000236495	Q2M3M2		UPI0000251D94	NM_001135181.1	tolerated(0.06)		13/15		Transmembrane_helices:TMhelix,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF96											1						MODERATE	1	SNV	1		1	1										PASS		rs1306615062	.												A	3	1	14	48239451	48239451	C	A	1	0	0	0	0	1	0	0	0	14955	680	24	2		2	SLC5A9	1	48239451	Missense_Mutation	SNP	C	C3L-00279_TP	1203300	48239451	200716971	19	6094											
BSND	0	.	GRCh38	chr1	55007180	55007180	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagaaggtggccctggCgacgttcaggcctggatgga	8	6	19	8	2	1	1	1	0	0	1	1	6	1	4	2	8	0	1	2	8	1	1	rs774504119		C3L-00279_TP	C3L-00279_NB	C	C																c.456C>G	p.=	p.G152G	ENST00000371265	3/4	244	207	37	214	214	0	strelka-varscan-mutect	BSND,synonymous_variant,p.=,ENST00000371265,NM_057176.2;	G	ENST00000371265	Transcript	synonymous_variant	710/3472	456/963	152/320	G	ggC/ggG	rs774504119,COSM4009011	1		1	BSND	HGNC	HGNC:16512	protein_coding	YES	CCDS602.1	ENSP00000360312	Q8WZ55	Q5VU50	UPI000006DC8D	NM_057176.2			3/4		PD968187,Pfam_domain:PF15462,hmmpanther:PTHR28399,hmmpanther:PTHR28399:SF1,Low_complexity_(Seg):seg											0,1						LOW	1	SNV	1		0,1	1										PASS		rs774504119	.												G	2	3	14	55007180	55007180	C	G	1	0	0	0	0	0	0	0	1	1705	755	27	4		4	BSND	1	55007180	Silent	SNP	C	C3L-00279_TP	6767729	55007180	193949242	20	6095											
SERBP1	0	.	GRCh38	chr1	67420155	67420155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaagtcatctcttttggacCctcctcttttacctcttcaa	8	16	3	14	0	5	0	2	0	3	0	7	1	6	1	3	1	1	0	3	1	3	5	rs749718037		C3L-00279_TP	C3L-00279_NB	C	C																c.850G>T	p.Gly284Cys	p.G284C	ENST00000370995	6/8	167	135	32	58	58	0	strelka-varscan-mutect	SERBP1,missense_variant,p.Gly263Cys,ENST00000370994,NM_015640.3;SERBP1,missense_variant,p.Gly284Cys,ENST00000370995,NM_001018067.1;SERBP1,missense_variant,p.Gly269Cys,ENST00000361219,NM_001018069.1;SERBP1,missense_variant,p.Gly278Cys,ENST00000370990,NM_001018068.1;RNU6-387P,downstream_gene_variant,,ENST00000411331,;SERBP1,non_coding_transcript_exon_variant,,ENST00000484880,;SERBP1,non_coding_transcript_exon_variant,,ENST00000462814,;SERBP1,non_coding_transcript_exon_variant,,ENST00000493607,;SERBP1,downstream_gene_variant,,ENST00000490406,;	A	ENST00000370995	Transcript	missense_variant	936/3482	850/1227	284/408	G/C	Ggt/Tgt	rs749718037	1		-1	SERBP1	HGNC	HGNC:17860	protein_coding	YES	CCDS30746.1	ENSP00000360034	Q8NC51		UPI0000036970	NM_001018067.1	deleterious(0.02)		6/8		hmmpanther:PTHR12299:SF29,hmmpanther:PTHR12299,Pfam_domain:PF04774,SMART_domains:SM01233																	MODERATE	1	SNV	1			1										PASS		rs749718037	.												A	3	1	14	67420155	67420155	C	A	1	0	0	0	0	1	0	0	0	14350	623	22	2		2	SERBP1	1	67420155	Missense_Mutation	SNP	C	C3L-00279_TP	12412975	67420155	181536267	21	6096											
LRRC7	0	.	GRCh38	chr1	69760359	69760359	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgaacattagaggagctttAtctagatgccaatcaaattg	15	11	8	7	1	2	2	1	0	1	2	2	4	2	3	1	1	3	1	1	1	6	5	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.155A>T	p.Tyr52Phe	p.Y52F	ENST00000035383	1/25	333	288	45	211	211	0	strelka-varscan-mutect	LRRC7,missense_variant,p.Tyr57Phe,ENST00000310961,;LRRC7,missense_variant,p.Tyr52Phe,ENST00000035383,NM_020794.2;LRRC7,missense_variant,p.Tyr90Phe,ENST00000370958,;LRRC7,5_prime_UTR_variant,,ENST00000415775,;	T	ENST00000035383	Transcript	missense_variant	185/5000	155/4614	52/1537	Y/F	tAt/tTt		1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2	deleterious(0.03)		1/25		PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF459,hmmpanther:PTHR23155,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	69760359	69760359	A	T	1	0	0	0	0	1	0	0	0	8916	449	16	4		4	LRRC7	1	69760359	Missense_Mutation	SNP	A	C3L-00279_TP	2340204	69760359	179196063	22	6097											
TNNI3K	0	.	GRCh38	chr1	74439501	74439501	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatgtgcagaacctccgttgGatggctcctgaggtgttcac	7	11	13	10	1	1	2	1	1	0	1	3	4	3	3	3	3	2	4	3	3	1	2	rs779354276		C3L-00279_TP	C3L-00279_NB	G	G																c.1890G>A	p.Trp630Ter	p.W630*	ENST00000326637	20/25	178	152	26	137	137	0	strelka-varscan-mutect	TNNI3K,stop_gained,p.Trp630Ter,ENST00000326637,NM_015978.2;FPGT-TNNI3K,stop_gained,p.Trp744Ter,ENST00000557284,NM_001112808.2;FPGT-TNNI3K,stop_gained,p.Trp731Ter,ENST00000370899,NM_001199327.1;TNNI3K,stop_gained,p.Trp176Ter,ENST00000534020,;TNNI3K,non_coding_transcript_exon_variant,,ENST00000370889,;	A	ENST00000326637	Transcript	stop_gained	1941/3001	1890/2508	630/835	W/*	tgG/tgA	rs779354276	1		1	TNNI3K	HGNC	HGNC:19661	protein_coding	YES	CCDS664.1	ENSP00000322251	Q59H18		UPI0000035B8F	NM_015978.2			20/25		PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF477,hmmpanther:PTHR23257,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		rs779354276	.												A	4	1	14	74439501	74439501	G	A	1	0	0	0	0	0	1	0	0	16802	1183	41	3		3	TNNI3K	1	74439501	Nonsense_Mutation	SNP	G	C3L-00279_TP	4679142	74439501	174516921	23	6098											
WDR63	0	.	GRCh38	chr1	85071988	85071988	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcacgtggcaaaaaaagacTaaaaccagtattagctggta	18	8	8	7	1	1	1	1	0	0	1	1	1	1	1	1	2	2	4	1	2	8	4	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.47T>A	p.Leu16Gln	p.L16Q	ENST00000294664	2/23	104	85	19	61	61	0	strelka-varscan-mutect	WDR63,missense_variant,p.Leu16Gln,ENST00000294664,NM_145172.4;WDR63,missense_variant,p.Leu16Gln,ENST00000370596,;WDR63,missense_variant,p.Leu16Gln,ENST00000326813,NM_001288563.1;WDR63,missense_variant,p.Leu16Gln,ENST00000528899,;WDR63,missense_variant,p.Leu16Gln,ENST00000464801,;	A	ENST00000294664	Transcript	missense_variant	227/2995	47/2676	16/891	L/Q	cTa/cAa		1		1	WDR63	HGNC	HGNC:30711	protein_coding	YES	CCDS702.1	ENSP00000294664	Q8IWG1	A0A140VJZ8	UPI00000744F1	NM_145172.4	tolerated(0.61)		2/23		hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF5,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	85071988	85071988	T	A	1	0	0	0	0	1	0	0	0	17873	1522	53	4		4	WDR63	1	85071988	Missense_Mutation	SNP	T	C3L-00279_TP	10632487	85071988	163884434	24	6099											
SYDE2	0	.	GRCh38	chr1	85169082	85169082	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatccagcaggtcaacagTgtacttagagtcacctgggt	12	9	10	10	0	2	1	2	0	0	1	3	1	3	1	2	2	3	2	2	2	4	2	rs751155174		C3L-00279_TP	C3L-00279_NB	T	T																c.2815A>T	p.Thr939Ser	p.T939S	ENST00000341460	5/7	255	224	31	137	137	0	strelka-varscan-mutect	SYDE2,missense_variant,p.Thr939Ser,ENST00000341460,NM_032184.1;	A	ENST00000341460	Transcript	missense_variant	2865/5512	2815/3585	939/1194	T/S	Act/Tct	rs751155174	1		-1	SYDE2	HGNC	HGNC:25841	protein_coding	YES	CCDS44169.1	ENSP00000340594	Q5VT97		UPI0001553B04	NM_032184.1	deleterious(0.02)		5/7		PROSITE_profiles:PS50238,hmmpanther:PTHR23176,hmmpanther:PTHR23176:SF47,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350																	MODERATE	1	SNV	5			1										PASS		rs751155174	.												A	3	1	14	85169082	85169082	T	A	1	0	0	0	0	1	0	0	0	15826	1696	59	4		4	SYDE2	1	85169082	Missense_Mutation	SNP	T	C3L-00279_TP	97094	85169082	163787340	25	6100											
TGFBR3	0	.	GRCh38	chr1	91758612	91758612	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggggaggtttaagcacttaCcaaaaacagtctggagaccc	13	7	12	9	0	1	1	0	0	1	1	1	3	1	2	2	4	3	2	2	4	4	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.384+1G>T		p.X128_splice	ENST00000212355		341	286	55	358	358	0	strelka-varscan-mutect	TGFBR3,splice_donor_variant,,ENST00000212355,NM_003243.4;TGFBR3,splice_donor_variant,,ENST00000370399,NM_001195684.1;TGFBR3,splice_donor_variant,,ENST00000525962,;TGFBR3,splice_donor_variant,,ENST00000465892,NM_001195683.1;TGFBR3,splice_donor_variant,,ENST00000468996,;TGFBR3,splice_donor_variant,,ENST00000533089,;TGFBR3,splice_donor_variant,,ENST00000532540,;	A	ENST00000212355	Transcript	splice_donor_variant	-/6465	384/2556	128/851				1		-1	TGFBR3	HGNC	HGNC:11774	protein_coding	YES	CCDS30770.1	ENSP00000212355	Q03167		UPI000049D997	NM_003243.4				4/16																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	14	91758612	91758612	C	A	1	0	0	0	0	0	0	1	0	16256	521	18	2		2	TGFBR3	1	91758612	Splice_Site	SNP	C	C3L-00279_TP	6589530	91758612	157197810	26	6101											
NTNG1	0	.	GRCh38	chr1	107324567	107324567	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catggcagccctatcagtatTatgccacagactgcttagat	11	11	8	11	0	1	2	1	0	0	2	1	2	1	2	2	1	3	3	2	1	4	4	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.532T>A	p.Tyr178Asn	p.Y178N	ENST00000370068	3/8	259	215	44	171	171	0	strelka-varscan-mutect	NTNG1,missense_variant,p.Tyr178Asn,ENST00000370067,;NTNG1,missense_variant,p.Tyr178Asn,ENST00000370068,;NTNG1,missense_variant,p.Tyr178Asn,ENST00000370073,NM_001113226.1;NTNG1,missense_variant,p.Tyr178Asn,ENST00000370071,NM_001113228.1;NTNG1,missense_variant,p.Tyr178Asn,ENST00000370074,NM_014917.2;NTNG1,missense_variant,p.Tyr178Asn,ENST00000370065,;NTNG1,missense_variant,p.Tyr178Asn,ENST00000370066,;NTNG1,non_coding_transcript_exon_variant,,ENST00000477948,;NTNG1,non_coding_transcript_exon_variant,,ENST00000294649,;	A	ENST00000370068	Transcript	missense_variant	1378/4034	532/1620	178/539	Y/N	Tat/Aat		1		1	NTNG1	HGNC	HGNC:23319	protein_coding	YES	CCDS44180.1	ENSP00000359085	Q9Y2I2		UPI0000458A3E		deleterious(0)		3/8		PROSITE_profiles:PS51117,hmmpanther:PTHR10574:SF28,hmmpanther:PTHR10574,Gene3D:2.60.120.260,Pfam_domain:PF00055,SMART_domains:SM00136																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	14	107324567	107324567	T	A	1	0	0	0	0	1	0	0	0	10769	1754	61	4		4	NTNG1	1	107324567	Missense_Mutation	SNP	T	C3L-00279_TP	15565955	107324567	141631855	27	6102											
VAV3	0	.	GRCh38	chr1	107642630	107642630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagtacctgccaaaacaGactgtgtgcatctcctttca	12	10	6	13	0	2	1	1	0	1	1	3	1	2	1	3	0	5	2	3	0	4	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1903C>A	p.Leu635Met	p.L635M	ENST00000370056	20/27	203	173	30	241	241	0	strelka-varscan-mutect	VAV3,missense_variant,p.Leu635Met,ENST00000370056,NM_006113.4;VAV3,missense_variant,p.Leu635Met,ENST00000527011,;VAV3,missense_variant,p.Leu75Met,ENST00000415432,NM_001079874.1;VAV3,missense_variant,p.Leu163Met,ENST00000529809,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,non_coding_transcript_exon_variant,,ENST00000525460,;VAV3,non_coding_transcript_exon_variant,,ENST00000533398,;VAV3,non_coding_transcript_exon_variant,,ENST00000529033,;VAV3,3_prime_UTR_variant,,ENST00000529413,;VAV3,3_prime_UTR_variant,,ENST00000525231,;VAV3,non_coding_transcript_exon_variant,,ENST00000479977,;	T	ENST00000370056	Transcript	missense_variant	2178/4990	1903/2544	635/847	L/M	Ctg/Atg		1		-1	VAV3	HGNC	HGNC:12659	protein_coding	YES	CCDS785.1	ENSP00000359073	Q9UKW4		UPI0000138212	NM_006113.4	tolerated(0.14)		20/27		PROSITE_profiles:PS50002,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF97,Pfam_domain:PF07653,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	107642630	107642630	G	T	1	0	0	0	0	1	0	0	0	17678	933	33	2		2	VAV3	1	107642630	Missense_Mutation	SNP	G	C3L-00279_TP	318063	107642630	141313792	28	6103											
SYT6	0	.	GRCh38	chr1	114097855	114097855	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccccacacgacagactcCtatgatctcattgtggccca	10	9	7	15	1	1	2	1	1	1	1	4	4	3	2	4	1	0	0	4	1	1	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1132G>T	p.Gly378Ter	p.G378*	ENST00000609117	6/8	151	132	19	146	146	0	strelka-varscan-mutect	SYT6,stop_gained,p.Gly378Ter,ENST00000609117,;SYT6,stop_gained,p.Gly378Ter,ENST00000369547,NM_001270805.1;SYT6,stop_gained,p.Gly378Ter,ENST00000607941,NM_205848.3;SYT6,stop_gained,p.Gly463Ter,ENST00000610222,;SYT6,3_prime_UTR_variant,,ENST00000610121,;SYT6,3_prime_UTR_variant,,ENST00000610096,;	A	ENST00000609117	Transcript	stop_gained	1436/4424	1132/1278	378/425	G/*	Gga/Tga		1		-1	SYT6	HGNC	HGNC:18638	protein_coding	YES	CCDS871.1	ENSP00000477344	Q5T7P8	I6L9C3	UPI000000DACA				6/8		PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF45,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	14	114097855	114097855	C	A	1	0	0	0	0	0	1	0	0	15872	690	24	2		2	SYT6	1	114097855	Nonsense_Mutation	SNP	C	C3L-00279_TP	6455225	114097855	134858567	29	6104											
SPAG17	0	.	GRCh38	chr1	118040795	118040795	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatacaggtagtaatttGaccctgagatttgagtgggt	12	12	13	4	0	0	3	0	3	0	1	0	5	0	4	1	3	1	2	1	3	4	5	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.3101C>A	p.Ser1034Ter	p.S1034*	ENST00000336338	22/49	237	194	43	75	75	0	strelka-varscan-mutect	SPAG17,stop_gained,p.Ser1034Ter,ENST00000336338,NM_206996.2;SPAG17,upstream_gene_variant,,ENST00000470550,;SPAG17,upstream_gene_variant,,ENST00000486589,;	T	ENST00000336338	Transcript	stop_gained	3167/6924	3101/6672	1034/2223	S/*	tCa/tAa		1		-1	SPAG17	HGNC	HGNC:26620	protein_coding	YES	CCDS899.1	ENSP00000337804	Q6Q759		UPI00001601FD	NM_206996.2			22/49		hmmpanther:PTHR21963																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	14	118040795	118040795	G	T	1	0	0	0	0	0	1	0	0	15310	1294	45	2		2	SPAG17	1	118040795	Nonsense_Mutation	SNP	G	C3L-00279_TP	3942940	118040795	130915627	30	6105											
MTMR11	0	.	GRCh38	chr1	149935621	149935621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggctggaaggtgaccCtaaagttggtacagatcagg	12	7	14	8	0	1	2	1	1	0	1	1	3	1	3	1	5	1	3	1	5	4	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.227G>A	p.Arg76Lys	p.R76K	ENST00000439741	3/17	259	220	39	211	211	0	strelka-varscan-mutect	MTMR11,splice_acceptor_variant,,ENST00000369140,NM_181873.3;MTMR11,missense_variant,p.Arg76Lys,ENST00000439741,NM_001145862.1;OTUD7B,downstream_gene_variant,,ENST00000581312,NM_020205.3;MTMR11,non_coding_transcript_exon_variant,,ENST00000492824,;MTMR11,non_coding_transcript_exon_variant,,ENST00000482025,;MTMR11,intron_variant,,ENST00000466496,;MTMR11,upstream_gene_variant,,ENST00000490310,;MTMR11,upstream_gene_variant,,ENST00000495054,;MTMR11,upstream_gene_variant,,ENST00000493562,;MTMR11,upstream_gene_variant,,ENST00000479272,;MTMR11,non_coding_transcript_exon_variant,,ENST00000482343,;	T	ENST00000439741	Transcript	missense_variant	478/2856	227/2130	76/709	R/K	aGg/aAg		1		-1	MTMR11	HGNC	HGNC:24307	protein_coding	YES	CCDS72902.1	ENSP00000391668	A4FU01		UPI000173AA17	NM_001145862.1	tolerated(0.08)		3/17		hmmpanther:PTHR10807:SF51,hmmpanther:PTHR10807,Superfamily_domains:SSF50729																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	14	149935621	149935621	C	T	1	0	0	0	0	1	0	0	0	9928	681	24	3		3	MTMR11	1	149935621	Missense_Mutation	SNP	C	C3L-00279_TP	31894826	149935621	99020801	31	6106											
NPR1	0	.	GRCh38	chr1	153688171	153688171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggctgaggacccacaGgagaggccaccattccagca	10	5	13	13	0	0	2	0	1	0	1	1	4	1	3	4	4	2	3	4	4	0	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2367G>T	p.Gln789His	p.Q789H	ENST00000368680	15/22	177	151	26	144	144	0	strelka-varscan-mutect	NPR1,missense_variant,p.Gln789His,ENST00000368680,NM_000906.3;MIR8083,downstream_gene_variant,,ENST00000620823,;NPR1,upstream_gene_variant,,ENST00000368677,;	T	ENST00000368680	Transcript	missense_variant	2839/4236	2367/3186	789/1061	Q/H	caG/caT		1		1	NPR1	HGNC	HGNC:7943	protein_coding	YES	CCDS1051.1	ENSP00000357669	P16066	A0A140VJE6	UPI0000125B3D	NM_000906.3	tolerated(0.14)		15/22		PROSITE_profiles:PS50011,hmmpanther:PTHR11920:SF300,hmmpanther:PTHR11920,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	153688171	153688171	G	T	1	0	0	0	0	1	0	0	0	10650	991	35	2		2	NPR1	1	153688171	Missense_Mutation	SNP	G	C3L-00279_TP	3752550	153688171	95268251	32	6107											
OR10J3	0	.	GRCh38	chr1	159314540	159314540	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgataatcacattgccagaGagagtcagcaggtacaaagt	16	8	10	7	0	2	3	2	1	0	2	2	4	2	3	1	1	3	2	1	1	3	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.120C>A	p.=	p.L40L	ENST00000332217	1/1	409	367	42	278	278	0	strelka-varscan-mutect	OR10J3,synonymous_variant,p.=,ENST00000332217,NM_001004467.1;	T	ENST00000332217	Transcript	synonymous_variant	120/990	120/990	40/329	L	ctC/ctA		1		-1	OR10J3	HGNC	HGNC:14992	protein_coding	YES	CCDS30909.1	ENSP00000331789	Q5JRS4		UPI0000441EEF	NM_001004467.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF28,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	14	159314540	159314540	G	T	1	0	0	0	0	0	0	0	1	10988	929	33	2		2	OR10J3	1	159314540	Silent	SNP	G	C3L-00279_TP	5626369	159314540	89641882	33	6108											
ADAMTS4	0	.	GRCh38	chr1	161196175	161196175	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacccctactttacccagTtcatgagcagcagtgaaggc	10	9	8	14	0	1	2	1	2	0	0	2	2	2	2	4	1	4	3	4	1	3	4	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.1086A>T	p.Glu362Asp	p.E362D	ENST00000367996	3/9	55	46	9	51	51	0	strelka-varscan-mutect	ADAMTS4,missense_variant,p.Glu362Asp,ENST00000367996,NM_005099.4;ADAMTS4,3_prime_UTR_variant,,ENST00000367995,;NDUFS2,upstream_gene_variant,,ENST00000367993,NM_004550.4;NDUFS2,upstream_gene_variant,,ENST00000496133,;NDUFS2,upstream_gene_variant,,ENST00000479948,;ADAMTS4,upstream_gene_variant,,ENST00000478394,;	A	ENST00000367996	Transcript	missense_variant	1515/9773	1086/2514	362/837	E/D	gaA/gaT		1		-1	ADAMTS4	HGNC	HGNC:220	protein_coding	YES	CCDS1223.1	ENSP00000356975	O75173		UPI000014194C	NM_005099.4	deleterious(0)		3/9		PROSITE_profiles:PS50215,hmmpanther:PTHR13723:SF38,hmmpanther:PTHR13723,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	161196175	161196175	T	A	1	0	0	0	0	1	0	0	0	312	1739	60	4		4	ADAMTS4	1	161196175	Missense_Mutation	SNP	T	C3L-00279_TP	1881635	161196175	87760247	34	6109											
FCRLB	0	.	GRCh38	chr1	161725989	161725989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacactgtgttacaggcgcGtgccagcgacagcgggcgct	7	7	14	13	5	0	0	0	0	0	0	0	1	0	0	1	2	5	2	1	2	2	2	rs748049975		C3L-00279_TP	C3L-00279_NB	G	G																c.476G>T	p.Arg159Leu	p.R159L	ENST00000367948	6/8	232	208	24	152	152	0	strelka-mutect	FCRLB,missense_variant,p.Arg159Leu,ENST00000367948,NM_001320241.1,NM_001002901.3;FCRLB,missense_variant,p.Arg159Leu,ENST00000336830,NM_001288831.1;FCRLB,missense_variant,p.Arg152Leu,ENST00000367944,NM_001288832.1;FCRLB,missense_variant,p.Arg159Leu,ENST00000367946,NM_001288829.1;FCRLB,missense_variant,p.Arg152Leu,ENST00000367945,NM_001288830.1;FCRLB,non_coding_transcript_exon_variant,,ENST00000495397,;	T	ENST00000367948	Transcript	missense_variant	691/1977	476/1281	159/426	R/L	cGt/cTt	rs748049975	1		1	FCRLB	HGNC	HGNC:26431	protein_coding	YES	CCDS30927.1	ENSP00000356925	Q6BAA4		UPI00003FF782	NM_001320241.1,NM_001002901.3	tolerated(0.11)		6/8		hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF65,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs748049975	.												T	3	4	14	161725989	161725989	G	T	1	0	0	0	0	1	0	0	0	5663	1145	40	1		1	FCRLB	1	161725989	Missense_Mutation	SNP	G	C3L-00279_TP	529814	161725989	87230433	35	6110											
POU2F1	0	.	GRCh38	chr1	167220934	167220934	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagtcaagatgagagtTcagccgcggcggcagcagca	11	4	15	11	4	2	2	2	1	0	2	2	4	2	2	1	2	4	4	1	2	1	1	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.37T>A	p.Ser13Thr	p.S13T	ENST00000367866	1/16	245	220	25	185	184	1	strelka-varscan-mutect	POU2F1,missense_variant,p.Ser13Thr,ENST00000367866,NM_002697.3;POU2F1,missense_variant,p.Ser13Thr,ENST00000429375,NM_001198786.1;POU2F1,5_prime_UTR_variant,,ENST00000541643,;RP11-277B15.3,upstream_gene_variant,,ENST00000606967,;POU2F1,non_coding_transcript_exon_variant,,ENST00000367865,;POU2F1,non_coding_transcript_exon_variant,,ENST00000492850,;POU2F1,non_coding_transcript_exon_variant,,ENST00000557909,;POU2F1,non_coding_transcript_exon_variant,,ENST00000559038,;POU2F1,missense_variant,p.Ser13Thr,ENST00000271411,;POU2F1,missense_variant,p.Ser13Thr,ENST00000560232,;POU2F1,missense_variant,p.Ser13Thr,ENST00000442313,;	A	ENST00000367866	Transcript	missense_variant	106/13905	37/2301	13/766	S/T	Tca/Aca		1		1	POU2F1	HGNC	HGNC:9212	protein_coding	YES	CCDS1259.2	ENSP00000356840	P14859		UPI0000EE3C74	NM_002697.3	tolerated_low_confidence(0.43)		1/16		hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF47,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	167220934	167220934	T	A	1	0	0	0	0	1	0	0	0	12387	1783	62	4		4	POU2F1	1	167220934	Missense_Mutation	SNP	T	C3L-00279_TP	5494945	167220934	81735488	36	6111											
MYOC	0	.	GRCh38	chr1	171636175	171636175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattggcgactgactgcttaCggatgtttgtctcccaggtt	6	14	11	10	2	1	1	0	1	1	0	2	3	1	2	1	3	2	3	1	3	1	4	rs201573718		C3L-00279_TP	C3L-00279_NB	C	C																c.1265G>T	p.Arg422Leu	p.R422L	ENST00000037502	3/3	790	637	153	604	603	1	strelka-varscan-mutect	MYOC,missense_variant,p.Arg422Leu,ENST00000037502,NM_000261.1;RP3-454G6.2,intron_variant,,ENST00000637303,;	A	ENST00000037502	Transcript	missense_variant	1337/2095	1265/1515	422/504	R/L	cGt/cTt	rs201573718,CM981347	1		-1	MYOC	HGNC	HGNC:7610	protein_coding	YES	CCDS1297.1	ENSP00000037502	Q99972	A0A0S2Z421	UPI00000012D6	NM_000261.1	deleterious(0.01)		3/3		Pfam_domain:PF02191,PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF33,SMART_domains:SM00284																	MODERATE	1	SNV	1		1,1	1										PASS		rs201573718	.												A	3	1	14	171636175	171636175	C	A	1	0	0	0	0	1	0	0	0	10087	536	19	1		1	MYOC	1	171636175	Missense_Mutation	SNP	C	C3L-00279_TP	4415241	171636175	77320247	37	6112											
PAPPA2	0	.	GRCh38	chr1	176595159	176595159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacaatggatactggcccCttcggggagagaaggtgata	12	8	14	7	1	0	2	0	1	0	1	1	5	0	4	2	5	2	1	2	5	5	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1555C>A	p.Leu519Ile	p.L519I	ENST00000367662	3/23	408	340	68	335	335	0	strelka-varscan-mutect	PAPPA2,missense_variant,p.Leu519Ile,ENST00000367662,NM_020318.2;PAPPA2,missense_variant,p.Leu519Ile,ENST00000367661,NM_021936.2;	A	ENST00000367662	Transcript	missense_variant	2719/9691	1555/5376	519/1791	L/I	Ctt/Att		1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2	deleterious(0.02)		3/23																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	176595159	176595159	C	A	1	0	0	0	0	1	0	0	0	11513	681	24	2		2	PAPPA2	1	176595159	Missense_Mutation	SNP	C	C3L-00279_TP	4958984	176595159	72361263	38	6113											
ASTN1	0	.	GRCh38	chr1	176934190	176934190	+	Missense_Mutation	SNP	T	T	C																															actccagccagagtcgccgcTggacctgcttgtttgggtac																								novel		C3L-00279_TP	C3L-00279_NB	T	T																c.2633A>G	p.Gln878Arg	p.Q878R	ENST00000361833	16/23	192	156	36	155	155	0	strelka-varscan-mutect	ASTN1,missense_variant,p.Gln878Arg,ENST00000361833,NM_004319.2;ASTN1,missense_variant,p.Gln878Arg,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Gln878Arg,ENST00000424564,NM_207108.2;ASTN1,downstream_gene_variant,,ENST00000281881,;	C	ENST00000361833	Transcript	missense_variant	2647/7116	2633/3885	878/1294	Q/R	cAg/cGg		1		-1	ASTN1	HGNC	HGNC:773	protein_coding	YES	CCDS1319.1	ENSP00000354536	O14525		UPI0000160388	NM_004319.2	deleterious(0)		16/23		hmmpanther:PTHR16592:SF8,hmmpanther:PTHR16592,SMART_domains:SM00457																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	14	176934190	176934190	T	C	1	0	0	0	0	1	0	0	0	1211	1580	55	5		5	ASTN1	1	176934190	Missense_Mutation	SNP	T	C3L-00279_TP	339031	176934190	72022232	39	6114	140	2									
ASTN1	0	.	GRCh38	chr1	176934191	176934191	+	Missense_Mutation	SNP	G	G	T																															ctccagccagagtcgccgctGgacctgcttgtttgggtacc																								novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2632C>A	p.Gln878Lys	p.Q878K	ENST00000361833	16/23	196	160	36	155	155	0	strelka-varscan-mutect	ASTN1,missense_variant,p.Gln878Lys,ENST00000361833,NM_004319.2;ASTN1,missense_variant,p.Gln878Lys,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Gln878Lys,ENST00000424564,NM_207108.2;ASTN1,downstream_gene_variant,,ENST00000281881,;	T	ENST00000361833	Transcript	missense_variant	2646/7116	2632/3885	878/1294	Q/K	Cag/Aag		1		-1	ASTN1	HGNC	HGNC:773	protein_coding	YES	CCDS1319.1	ENSP00000354536	O14525		UPI0000160388	NM_004319.2	deleterious(0.01)		16/23		hmmpanther:PTHR16592:SF8,hmmpanther:PTHR16592,SMART_domains:SM00457																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	176934191	176934191	G	T	1	0	0	0	0	1	0	0	0	1211	1357	47	2		2	ASTN1	1	176934191	Missense_Mutation	SNP	G	C3L-00279_TP	1	176934191	72022231	40	6115	140	2									
AXDND1	0	.	GRCh38	chr1	179534822	179534822	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaaaaataaagatctagAggaattagtcatgacatcaa	21	10	6	4	0	3	3	2	1	1	2	3	4	3	4	0	1	0	0	0	1	10	5			C3L-00279_TP	C3L-00279_NB	A	A																c.2891A>C	p.Glu964Ala	p.E964A	ENST00000367618	25/26	121	103	18	39	39	0	strelka-varscan-mutect	AXDND1,missense_variant,p.Glu964Ala,ENST00000367618,NM_144696.5;AXDND1,missense_variant,p.Glu824Ala,ENST00000434088,;AXDND1,3_prime_UTR_variant,,ENST00000617277,;AXDND1,non_coding_transcript_exon_variant,,ENST00000484883,;AXDND1,non_coding_transcript_exon_variant,,ENST00000484455,;AXDND1,3_prime_UTR_variant,,ENST00000511157,;	C	ENST00000367618	Transcript	missense_variant	3278/3642	2891/3039	964/1012	E/A	gAg/gCg	COSM677856	1		1	AXDND1	HGNC	HGNC:26564	protein_coding	YES	CCDS30948.1	ENSP00000356590	Q5T1B0		UPI000022AC91	NM_144696.5	deleterious(0)		25/26		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23052											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	14	179534822	179534822	A	C	1	0	0	0	0	1	0	0	0	1392	304	11	5		5	AXDND1	1	179534822	Missense_Mutation	SNP	A	C3L-00279_TP	2600631	179534822	69421600	41	6116											
CACNA1E	0	.	GRCh38	chr1	181757960	181757960	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagagggcgtgcatcgActtcgccatcagcgccaaac	9	7	11	14	4	1	1	1	0	0	1	3	2	1	1	2	1	4	2	2	1	1	2	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.4343A>T	p.Asp1448Val	p.D1448V	ENST00000367573	31/48	196	170	26	165	164	1	strelka-varscan-mutect	CACNA1E,missense_variant,p.Asp1429Val,ENST00000621791,NM_001205294.1;CACNA1E,missense_variant,p.Asp1448Val,ENST00000621551,;CACNA1E,missense_variant,p.Asp1448Val,ENST00000367567,;CACNA1E,missense_variant,p.Asp1429Val,ENST00000358338,;CACNA1E,missense_variant,p.Asp1448Val,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Asp1448Val,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Asp1447Val,ENST00000357570,;CACNA1E,missense_variant,p.Asp1429Val,ENST00000360108,;	T	ENST00000367573	Transcript	missense_variant	4343/7067	4343/6942	1448/2313	D/V	gAc/gTc		1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1	deleterious(0)		31/48		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	181757960	181757960	A	T	1	0	0	0	0	1	0	0	0	2230	275	10	4		4	CACNA1E	1	181757960	Missense_Mutation	SNP	A	C3L-00279_TP	2223138	181757960	67198462	42	6117											
TRMT1L	0	.	GRCh38	chr1	185143437	185143437	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtacagaatattagctgcCtagaaggaaatcataatctg	16	11	8	6	0	2	2	1	0	1	2	2	3	2	3	1	1	3	2	1	1	8	5	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.780-1G>A		p.X260_splice	ENST00000367506		205	173	32	89	89	0	strelka-varscan-mutect	TRMT1L,splice_acceptor_variant,,ENST00000367506,NM_030934.4,NM_001202423.1;TRMT1L,upstream_gene_variant,,ENST00000458395,;TRMT1L,downstream_gene_variant,,ENST00000487028,;	T	ENST00000367506	Transcript	splice_acceptor_variant	-/4392	780/2202	260/733				1		-1	TRMT1L	HGNC	HGNC:16782	protein_coding	YES	CCDS1366.1	ENSP00000356476	Q7Z2T5		UPI000000DADB	NM_030934.4,NM_001202423.1				6/14																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	14	185143437	185143437	C	T	1	0	0	0	0	0	0	1	0	17068	695	24	3		3	TRMT1L	1	185143437	Splice_Site	SNP	C	C3L-00279_TP	3385477	185143437	63812985	43	6118											
TPR	0	.	GRCh38	chr1	186313999	186313999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatttcctctgtttattcctCctctccctcccattgcatgg	4	18	4	15	0	2	0	0	0	2	0	7	0	6	0	5	1	1	2	5	1	2	6	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.7064G>T	p.Gly2355Val	p.G2355V	ENST00000367478	51/51	115	95	20	30	30	0	strelka-varscan-mutect	TPR,missense_variant,p.Gly2355Val,ENST00000367478,NM_003292.2;PRG4,3_prime_UTR_variant,,ENST00000445192,NM_005807.4;PRG4,3_prime_UTR_variant,,ENST00000367483,NM_001127708.2;PRG4,3_prime_UTR_variant,,ENST00000635041,NM_001303232.1;PRG4,3_prime_UTR_variant,,ENST00000367485,NM_001127709.2,NM_001127710.2;RNU6-1240P,upstream_gene_variant,,ENST00000365155,;TPR,downstream_gene_variant,,ENST00000467810,;	A	ENST00000367478	Transcript	missense_variant	7361/9708	7064/7092	2355/2363	G/V	gGa/gTa		1		-1	TPR	HGNC	HGNC:12017	protein_coding	YES	CCDS41446.1	ENSP00000356448	P12270		UPI000046FCF4	NM_003292.2	deleterious_low_confidence(0.03)		51/51		hmmpanther:PTHR18898,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	186313999	186313999	C	A	1	0	0	0	0	1	0	0	0	16897	855	30	2		2	TPR	1	186313999	Missense_Mutation	SNP	C	C3L-00279_TP	1170562	186313999	62642423	44	6119											
KCNT2	0	.	GRCh38	chr1	196258250	196258250	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttttcacaagttcagcaAgctcttgtctttctgacctc	8	17	5	11	0	5	1	2	1	3	0	6	1	5	1	1	0	2	3	1	0	3	6	rs769341865		C3L-00279_TP	C3L-00279_NB	A	A																c.3155T>A	p.Leu1052His	p.L1052H	ENST00000294725	26/28	250	210	40	161	161	0	strelka-varscan-mutect	KCNT2,missense_variant,p.Leu1028His,ENST00000367433,NM_001287819.1;KCNT2,missense_variant,p.Leu1052His,ENST00000294725,NM_198503.3;KCNT2,missense_variant,p.Leu985His,ENST00000609185,NM_001287820.1;KCNT2,3_prime_UTR_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;	T	ENST00000294725	Transcript	missense_variant	4071/4409	3155/3408	1052/1135	L/H	cTt/cAt	rs769341865	1		-1	KCNT2	HGNC	HGNC:18866	protein_coding	YES	CCDS1384.1	ENSP00000294725	Q6UVM3	A9LNM6	UPI00001E0966	NM_198503.3	deleterious(0)		26/28		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9																	MODERATE	1	SNV	1			1										PASS		rs769341865	.												T	3	4	14	196258250	196258250	A	T	1	0	0	0	0	1	0	0	0	8008	72	3	4		4	KCNT2	1	196258250	Missense_Mutation	SNP	A	C3L-00279_TP	9944251	196258250	52698172	45	6120											
KCNT2	0	.	GRCh38	chr1	196429584	196429584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggttttgtttacctgtatgGgtagaaccacaagagcaaca	12	12	10	7	0	0	2	0	0	0	2	0	2	0	2	2	2	4	5	2	2	6	6	rs373151987		C3L-00279_TP	C3L-00279_NB	G	G																c.812C>A	p.Pro271His	p.P271H	ENST00000294725	9/28	127	117	10	76	76	0	strelka-varscan-mutect	KCNT2,missense_variant,p.Pro271His,ENST00000367433,NM_001287819.1;KCNT2,missense_variant,p.Pro271His,ENST00000294725,NM_198503.3;KCNT2,missense_variant,p.Pro271His,ENST00000609185,NM_001287820.1;KCNT2,intron_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;KCNT2,upstream_gene_variant,,ENST00000466914,;	T	ENST00000294725	Transcript	missense_variant	1728/4409	812/3408	271/1135	P/H	cCc/cAc	rs373151987	1		-1	KCNT2	HGNC	HGNC:18866	protein_coding	YES	CCDS1384.1	ENSP00000294725	Q6UVM3	A9LNM6	UPI00001E0966	NM_198503.3	deleterious(0)		9/28		Gene3D:1.10.287.70,Pfam_domain:PF07885,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs373151987	.												T	3	4	14	196429584	196429584	G	T	1	0	0	0	0	1	0	0	0	8008	1232	43	2		2	KCNT2	1	196429584	Missense_Mutation	SNP	G	C3L-00279_TP	171334	196429584	52526838	46	6121											
ASPM	0	.	GRCh38	chr1	197146322	197146322	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaagtggctgagagacAggaccggcggggaagacgcc	11	3	18	9	3	0	4	0	1	0	3	0	7	0	6	2	5	1	2	2	5	2	0	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.116T>A	p.Leu39Gln	p.L39Q	ENST00000367409	1/28	558	492	66	450	449	1	strelka-varscan-mutect	ASPM,missense_variant,p.Leu39Gln,ENST00000367409,NM_018136.4;ASPM,missense_variant,p.Leu39Gln,ENST00000294732,NM_001206846.1;ASPM,missense_variant,p.Leu39Gln,ENST00000612785,;	T	ENST00000367409	Transcript	missense_variant	373/10887	116/10434	39/3477	L/Q	cTg/cAg		1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4	deleterious(0)		1/28		Pfam_domain:PF15780																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	197146322	197146322	A	T	1	0	0	0	0	1	0	0	0	1203	188	7	4		4	ASPM	1	197146322	Missense_Mutation	SNP	A	C3L-00279_TP	716738	197146322	51810100	47	6122											
NEK7	0	.	GRCh38	chr1	198297135	198297135	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattttacagatggctgcAttacaaagtcctttctatgg	10	14	9	8	0	1	1	0	0	1	1	2	1	2	1	1	3	3	3	1	3	4	5	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.693A>T	p.=	p.A231A	ENST00000367385	9/10	126	107	19	44	44	0	strelka-varscan-mutect	NEK7,synonymous_variant,p.=,ENST00000367385,NM_133494.2;NEK7,synonymous_variant,p.=,ENST00000538004,;NEK7,non_coding_transcript_exon_variant,,ENST00000493790,;	T	ENST00000367385	Transcript	synonymous_variant	1035/4149	693/909	231/302	A	gcA/gcT		1		1	NEK7	HGNC	HGNC:13386	protein_coding	YES	CCDS1394.1	ENSP00000356355	Q8TDX7	A0A024R964	UPI0000073180	NM_133494.2			9/10		PROSITE_profiles:PS50011,hmmpanther:PTHR24362,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000654,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR00109																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	14	198297135	198297135	A	T	1	0	0	0	0	0	0	0	1	10357	204	8	4		4	NEK7	1	198297135	Silent	SNP	A	C3L-00279_TP	1150813	198297135	50659287	48	6123											
IGFN1	0	.	GRCh38	chr1	201206455	201206455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagaagccttgcagagaGgccccatctacagggagaga	12	4	14	11	0	1	3	0	0	1	3	1	6	1	4	4	3	3	1	4	3	2	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1562G>T	p.Arg521Met	p.R521M	ENST00000335211	12/24	243	192	51	185	185	0	strelka-varscan-mutect	IGFN1,missense_variant,p.Arg521Met,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,non_coding_transcript_exon_variant,,ENST00000444705,;IGFN1,intron_variant,,ENST00000437879,;	T	ENST00000335211	Transcript	missense_variant	1692/11810	1562/11127	521/3708	R/M	aGg/aTg		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1	deleterious(0.01)		12/24																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	201206455	201206455	G	T	1	0	0	0	0	1	0	0	0	7497	1000	35	2		2	IGFN1	1	201206455	Missense_Mutation	SNP	G	C3L-00279_TP	2909320	201206455	47749967	49	6124											
IGFN1	0	.	GRCh38	chr1	201211134	201211134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taggggctcctaagggaatgGgttcagggagtaagacaggt	11	8	17	5	0	1	1	1	0	0	1	2	3	2	3	1	6	0	3	1	6	4	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.6241G>T	p.Gly2081Cys	p.G2081C	ENST00000335211	12/24	618	511	107	312	312	0	strelka-varscan-mutect	IGFN1,missense_variant,p.Gly2081Cys,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,upstream_gene_variant,,ENST00000473483,;IGFN1,downstream_gene_variant,,ENST00000444705,;	T	ENST00000335211	Transcript	missense_variant	6371/11810	6241/11127	2081/3708	G/C	Ggt/Tgt		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1	deleterious(0)		12/24																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	201211134	201211134	G	T	1	0	0	0	0	1	0	0	0	7497	1232	43	2		2	IGFN1	1	201211134	Missense_Mutation	SNP	G	C3L-00279_TP	4679	201211134	47745288	50	6125											
PTPN7	0	.	GRCh38	chr1	202152672	202152672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccgaaaagaggatgtGctttactgaccggcgctctt	9	9	12	11	3	1	2	0	1	1	1	1	4	1	3	3	3	2	2	3	3	3	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1060C>A	p.His354Asn	p.H354N	ENST00000309017	8/10	189	167	22	144	144	0	strelka-varscan-mutect	PTPN7,missense_variant,p.His354Asn,ENST00000309017,NM_002832.3;PTPN7,missense_variant,p.His288Asn,ENST00000367279,NM_080588.2;PTPN7,missense_variant,p.His330Asn,ENST00000477554,NM_001199797.1;PTPN7,missense_variant,p.His78Asn,ENST00000477625,;PTPN7,downstream_gene_variant,,ENST00000467283,;PTPN7,downstream_gene_variant,,ENST00000435759,;PTPN7,downstream_gene_variant,,ENST00000486116,;PTPN7,downstream_gene_variant,,ENST00000476061,;PTPN7,downstream_gene_variant,,ENST00000464870,;PTPN7,downstream_gene_variant,,ENST00000629151,;PTPN7,non_coding_transcript_exon_variant,,ENST00000492977,;PTPN7,downstream_gene_variant,,ENST00000479092,;PTPN7,missense_variant,p.His249Asn,ENST00000495688,;PTPN7,3_prime_UTR_variant,,ENST00000496197,;PTPN7,3_prime_UTR_variant,,ENST00000480836,;PTPN7,3_prime_UTR_variant,,ENST00000462815,;	T	ENST00000309017	Transcript	missense_variant	1834/3765	1060/1398	354/465	H/N	Cac/Aac		1		-1	PTPN7	HGNC	HGNC:9659	protein_coding	YES	CCDS1423.2	ENSP00000309116	P35236		UPI00004701F6	NM_002832.3	deleterious(0.01)		8/10		PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF41,hmmpanther:PTHR19134,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799,Prints_domain:PR00700																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	202152672	202152672	G	T	1	0	0	0	0	1	0	0	0	12947	1319	46	2		2	PTPN7	1	202152672	Missense_Mutation	SNP	G	C3L-00279_TP	941538	202152672	46803750	51	6126											
PTPN7	0	.	GRCh38	chr1	202157798	202157798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagggatgtccaggtcttcgGggctgacaaagtttgaaggg	9	9	16	7	1	1	2	0	2	1	0	3	3	2	3	1	5	0	2	1	5	2	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.647C>A	p.Pro216His	p.P216H	ENST00000309017	4/10	267	221	46	233	233	0	strelka-varscan-mutect	PTPN7,missense_variant,p.Pro216His,ENST00000309017,NM_002832.3;PTPN7,missense_variant,p.Pro150His,ENST00000367279,NM_080588.2;PTPN7,missense_variant,p.Pro192His,ENST00000477554,NM_001199797.1;PTPN7,missense_variant,p.Pro110His,ENST00000467283,;PTPN7,missense_variant,p.Pro111His,ENST00000486116,;PTPN7,missense_variant,p.Pro90His,ENST00000476061,;PTPN7,missense_variant,p.Pro111His,ENST00000464870,;PTPN7,synonymous_variant,p.=,ENST00000435759,;PTPN7,5_prime_UTR_variant,,ENST00000477625,;PTPN7,intron_variant,,ENST00000629151,;PTPN7,downstream_gene_variant,,ENST00000492451,;PTPN7,non_coding_transcript_exon_variant,,ENST00000492977,;PTPN7,non_coding_transcript_exon_variant,,ENST00000479092,;PTPN7,missense_variant,p.Pro111His,ENST00000495688,;PTPN7,missense_variant,p.Pro50Thr,ENST00000480836,;PTPN7,synonymous_variant,p.=,ENST00000496197,;PTPN7,intron_variant,,ENST00000462815,;PTPN7,downstream_gene_variant,,ENST00000468385,;PTPN7,downstream_gene_variant,,ENST00000491584,;	T	ENST00000309017	Transcript	missense_variant	1421/3765	647/1398	216/465	P/H	cCc/cAc		1		-1	PTPN7	HGNC	HGNC:9659	protein_coding	YES	CCDS1423.2	ENSP00000309116	P35236		UPI00004701F6	NM_002832.3	deleterious(0.03)		4/10		PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF41,hmmpanther:PTHR19134,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	202157798	202157798	G	T	1	0	0	0	0	1	0	0	0	12947	1232	43	2		2	PTPN7	1	202157798	Missense_Mutation	SNP	G	C3L-00279_TP	5126	202157798	46798624	52	6127											
NFASC	0	.	GRCh38	chr1	204974185	204974185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggaatttcagatgtgcCgcctcggatgctgtcgcccc	5	11	12	13	3	2	1	1	0	1	1	4	3	2	3	4	2	2	1	4	2	1	1	rs367856348		C3L-00279_TP	C3L-00279_NB	C	C																c.1286C>A	p.Pro429Gln	p.P429Q	ENST00000339876	13/30	181	150	31	164	163	1	strelka-mutect	NFASC,missense_variant,p.Pro429Gln,ENST00000339876,NM_001005388.2;NFASC,missense_variant,p.Pro429Gln,ENST00000401399,;NFASC,missense_variant,p.Pro440Gln,ENST00000539706,NM_001160332.1;NFASC,missense_variant,p.Pro440Gln,ENST00000360049,NM_015090.3;NFASC,missense_variant,p.Pro423Gln,ENST00000404076,;NFASC,missense_variant,p.Pro440Gln,ENST00000404907,;NFASC,missense_variant,p.Pro416Gln,ENST00000430393,NM_001160331.1;NFASC,missense_variant,p.Pro399Gln,ENST00000367173,;NFASC,missense_variant,p.Pro440Gln,ENST00000513543,;NFASC,missense_variant,p.Pro429Gln,ENST00000403080,NM_001160333.1,NM_001005389.1;NFASC,non_coding_transcript_exon_variant,,ENST00000404977,;NFASC,missense_variant,p.Pro446Gln,ENST00000504476,;NFASC,non_coding_transcript_exon_variant,,ENST00000512826,;NFASC,non_coding_transcript_exon_variant,,ENST00000514644,;	A	ENST00000339876	Transcript	missense_variant	1614/10333	1286/3723	429/1240	P/Q	cCg/cAg	rs367856348	1		1	NFASC	HGNC	HGNC:29866	protein_coding	YES	CCDS53460.1	ENSP00000344786	O94856		UPI0000237208	NM_001005388.2	deleterious(0.01)		13/30		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF715,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs367856348	.												A	3	1	14	204974185	204974185	C	A	1	0	0	0	0	1	0	0	0	10396	652	23	1		1	NFASC	1	204974185	Missense_Mutation	SNP	C	C3L-00279_TP	2816387	204974185	43982237	53	6128											
AVPR1B	0	.	GRCh38	chr1	206116032	206116032	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcgatgtaggccagcaCgatgacaaaggtcatcttca	13	7	11	10	2	3	1	2	1	1	0	3	3	3	1	1	2	2	3	1	2	3	2			C3L-00279_TP	C3L-00279_NB	C	C																c.859G>T	p.Val287Leu	p.V287L	ENST00000367126	1/2	139	127	12	100	100	0	strelka-mutect	AVPR1B,missense_variant,p.Val287Leu,ENST00000367126,NM_000707.3;RP11-38J22.3,upstream_gene_variant,,ENST00000425896,;AVPR1B,intron_variant,,ENST00000612906,;	A	ENST00000367126	Transcript	missense_variant	1324/2237	859/1275	287/424	V/L	Gtg/Ttg	COSM902900	1		-1	AVPR1B	HGNC	HGNC:896	protein_coding	YES	CCDS73015.1	ENSP00000356094	P47901		UPI000005043A	NM_000707.3	deleterious(0)		1/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF18,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		rs1023144913	.												A	3	1	14	206116032	206116032	C	A	1	0	0	0	0	1	0	0	0	1388	536	19	1		1	AVPR1B	1	206116032	Missense_Mutation	SNP	C	C3L-00279_TP	1141847	206116032	42840390	54	6129											
PROX1	0	.	GRCh38	chr1	213998023	213998023	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctatccatttcagagcccAttaggtgctccctccggctc	6	11	8	16	1	1	1	1	0	0	1	5	1	4	1	5	2	2	2	5	2	2	3	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.1488A>T	p.=	p.P496P	ENST00000366958	2/5	94	86	8	57	57	0	strelka-varscan-mutect	PROX1,synonymous_variant,p.=,ENST00000498508,;PROX1,synonymous_variant,p.=,ENST00000366958,NM_001270616.1;PROX1,synonymous_variant,p.=,ENST00000261454,;PROX1,synonymous_variant,p.=,ENST00000435016,NM_002763.4;PROX1,downstream_gene_variant,,ENST00000471129,;PROX1,downstream_gene_variant,,ENST00000607425,;	T	ENST00000366958	Transcript	synonymous_variant	2096/8240	1488/2214	496/737	P	ccA/ccT		1		1	PROX1	HGNC	HGNC:9459	protein_coding	YES	CCDS31021.1	ENSP00000355925	Q92786		UPI0000071D14	NM_001270616.1			2/5		hmmpanther:PTHR12198																	LOW	1	SNV	1			1										PASS		rs1399935358	.												T	2	4	14	213998023	213998023	A	T	1	0	0	0	0	0	0	0	1	12696	204	8	4		4	PROX1	1	213998023	Silent	SNP	A	C3L-00279_TP	7881991	213998023	34958399	55	6130											
USH2A	0	.	GRCh38	chr1	215782858	215782858	+	Missense_Mutation	SNP	C	C	T																															ttttgttctggctctcacagCtttgctgagtcctcgcccat																								novel		C3L-00279_TP	C3L-00279_NB	C	C																c.10465G>A	p.Ala3489Thr	p.A3489T	ENST00000307340	53/72	278	218	60	185	185	0	strelka-varscan-mutect	USH2A,missense_variant,p.Ala3489Thr,ENST00000307340,NM_206933.2;	T	ENST00000307340	Transcript	missense_variant	10852/18883	10465/15609	3489/5202	A/T	Gct/Act		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(0.43)		53/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	215782858	215782858	C	T	1	0	0	0	0	1	0	0	0	17570	797	28	3		3	USH2A	1	215782858	Missense_Mutation	SNP	C	C3L-00279_TP	1784835	215782858	33173564	56	6131	141	2									
USH2A	0	.	GRCh38	chr1	215782862	215782862	+	Missense_Mutation	SNP	G	G	T																															gttctggctctcacagctttGctgagtcctcgcccatagct																										C3L-00279_TP	C3L-00279_NB	G	G																c.10461C>A	p.Ser3487Arg	p.S3487R	ENST00000307340	53/72	265	206	59	184	183	1	strelka-varscan-mutect	USH2A,missense_variant,p.Ser3487Arg,ENST00000307340,NM_206933.2;	T	ENST00000307340	Transcript	missense_variant	10848/18883	10461/15609	3487/5202	S/R	agC/agA	COSM358329	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		53/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,Superfamily_domains:SSF49265											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	14	215782862	215782862	G	T	1	0	0	0	0	1	0	0	0	17570	1310	46	2		2	USH2A	1	215782862	Missense_Mutation	SNP	G	C3L-00279_TP	4	215782862	33173560	57	6132	141	2									
USH2A	0	.	GRCh38	chr1	216199920	216199920	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgggaccagattgatttGagagtgttgtccaggtaagt	10	13	13	5	0	0	3	0	2	0	2	1	5	1	4	2	2	0	2	2	2	2	5			C3L-00279_TP	C3L-00279_NB	G	G																c.3518C>A	p.Ser1173Ter	p.S1173*	ENST00000307340	17/72	620	540	80	404	404	0	strelka-varscan-mutect	USH2A,stop_gained,p.Ser1173Ter,ENST00000307340,NM_206933.2;USH2A,stop_gained,p.Ser1173Ter,ENST00000366942,NM_007123.5;RP5-1099E6.3,intron_variant,,ENST00000420867,;MRPS18BP1,downstream_gene_variant,,ENST00000414228,;	T	ENST00000307340	Transcript	stop_gained	3905/18883	3518/15609	1173/5202	S/*	tCa/tAa	CM1110190,COSM425319,COSM4813028,COSM4813029	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			17/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265											0,1,1,1						HIGH	1	SNV	1		1,1,1,1	1										PASS		.	.												T	4	4	14	216199920	216199920	G	T	1	0	0	0	0	0	1	0	0	17570	1294	45	2		2	USH2A	1	216199920	Nonsense_Mutation	SNP	G	C3L-00279_TP	417058	216199920	32756502	58	6133											
RAB3GAP2	0	.	GRCh38	chr1	220195153	220195153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcgtgcttacttttcCaaccaagccaaccactgaaa	11	12	4	14	1	1	1	0	1	1	0	3	1	2	1	4	0	5	1	4	0	5	5	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1055G>T	p.Trp352Leu	p.W352L	ENST00000358951	12/35	636	571	65	428	428	0	strelka-varscan-mutect	RAB3GAP2,missense_variant,p.Trp352Leu,ENST00000358951,NM_012414.3;RAB3GAP2,intron_variant,,ENST00000478976,;RAB3GAP2,downstream_gene_variant,,ENST00000237724,;	A	ENST00000358951	Transcript	missense_variant	1172/7257	1055/4182	352/1393	W/L	tGg/tTg		1		-1	RAB3GAP2	HGNC	HGNC:17168	protein_coding	YES	CCDS31028.1	ENSP00000351832	Q9H2M9		UPI0000072269	NM_012414.3	tolerated(0.09)		12/35		Pfam_domain:PF14655,hmmpanther:PTHR12472																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	220195153	220195153	C	A	1	0	0	0	0	1	0	0	0	13095	595	21	2		2	RAB3GAP2	1	220195153	Missense_Mutation	SNP	C	C3L-00279_TP	3995233	220195153	28761269	59	6134											
LIN9	0	.	GRCh38	chr1	226239018	226239018	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaactttgtttaggtcctTgttcagctgttcaagctcca	9	15	7	10	0	2	0	2	0	0	0	4	0	4	0	2	1	3	5	2	1	4	6	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.1246A>T	p.Lys416Ter	p.K416*	ENST00000328205	12/15	228	197	31	58	58	0	strelka-varscan-mutect	LIN9,stop_gained,p.Lys416Ter,ENST00000328205,NM_173083.3;LIN9,stop_gained,p.Lys471Ter,ENST00000366808,NM_001270410.1;LIN9,stop_gained,p.Lys376Ter,ENST00000460719,NM_001270409.1;LIN9,stop_gained,p.Lys381Ter,ENST00000481685,;	A	ENST00000328205	Transcript	stop_gained	1792/3567	1246/1677	416/558	K/*	Aag/Tag		1		-1	LIN9	HGNC	HGNC:30830	protein_coding	YES	CCDS1553.1	ENSP00000329102	Q5TKA1		UPI00001B2F3C	NM_173083.3			12/15		hmmpanther:PTHR21689																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	14	226239018	226239018	T	A	1	0	0	0	0	0	1	0	0	8721	1821	63	4		4	LIN9	1	226239018	Nonsense_Mutation	SNP	T	C3L-00279_TP	6043865	226239018	22717404	60	6135											
SNAP47	0	.	GRCh38	chr1	227759361	227759361	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatatctgccaagatgccAgaggttatccccattttaga	11	13	8	9	0	1	4	0	1	1	3	2	4	2	4	4	1	2	1	4	1	4	5	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.999A>G	p.=	p.P333P	ENST00000315781	3/5	654	543	111	484	484	0	strelka-varscan-mutect	SNAP47,synonymous_variant,p.=,ENST00000426344,;SNAP47,synonymous_variant,p.=,ENST00000315781,NM_053052.3;SNAP47,synonymous_variant,p.=,ENST00000366759,;SNAP47,synonymous_variant,p.=,ENST00000617596,;SNAP47,synonymous_variant,p.=,ENST00000418653,;SNAP47,synonymous_variant,p.=,ENST00000366760,;SNAP47,synonymous_variant,p.=,ENST00000478768,;SNAP47,synonymous_variant,p.=,ENST00000606873,;SNAP47,non_coding_transcript_exon_variant,,ENST00000491439,;	G	ENST00000315781	Transcript	synonymous_variant	1413/2367	999/1395	333/464	P	ccA/ccG		1		1	SNAP47	HGNC	HGNC:30669	protein_coding	YES	CCDS1562.1	ENSP00000314157	Q5SQN1		UPI000036662E	NM_053052.3			3/5																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	14	227759361	227759361	A	G	1	0	0	0	0	0	0	0	1	15153	175	7	5		5	SNAP47	1	227759361	Silent	SNP	A	C3L-00279_TP	1520343	227759361	21197061	61	6136											
ERO1B	0	.	GRCh38	chr1	236226419	236226419	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtataaaaagtaaagattcTtgagccttcttggaccttct	13	14	7	7	0	3	2	0	1	3	1	3	3	3	3	2	1	1	2	2	1	6	8	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.902A>C	p.Lys301Thr	p.K301T	ENST00000354619	12/16	484	397	87	278	278	0	strelka-varscan-mutect	ERO1B,missense_variant,p.Lys301Thr,ENST00000354619,NM_019891.3;ERO1B,missense_variant,p.Lys26Thr,ENST00000264181,;GPR137B,downstream_gene_variant,,ENST00000477559,;	G	ENST00000354619	Transcript	missense_variant	1104/4567	902/1404	301/467	K/T	aAg/aCg		1		-1	ERO1B	HGNC	HGNC:14355	protein_coding	YES	CCDS31064.1	ENSP00000346635	Q86YB8		UPI00004700B5	NM_019891.3	deleterious(0)		12/16		Superfamily_domains:0043331,Pfam_domain:PF04137,PIRSF_domain:PIRSF017205,hmmpanther:PTHR12613,hmmpanther:PTHR12613:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	236226419	236226419	T	G	1	0	0	0	0	1	0	0	0	5098	1609	56	5		5	ERO1B	1	236226419	Missense_Mutation	SNP	T	C3L-00279_TP	8467058	236226419	12730003	62	6137											
HEATR1	0	.	GRCh38	chr1	236574808	236574808	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactttcccagagtgagatgCagaaccatggcctcatcttt	10	12	8	11	0	2	3	1	1	1	3	3	4	3	3	3	1	3	1	3	1	2	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.3180G>A	p.=	p.L1060L	ENST00000366582	23/45	355	306	49	254	254	0	strelka-varscan-mutect	HEATR1,synonymous_variant,p.=,ENST00000366582,NM_018072.5;HEATR1,intron_variant,,ENST00000366581,;HEATR1,upstream_gene_variant,,ENST00000490339,;	T	ENST00000366582	Transcript	synonymous_variant	3295/8447	3180/6435	1060/2144	L	ctG/ctA		1		-1	HEATR1	HGNC	HGNC:25517	protein_coding	YES	CCDS31066.1	ENSP00000355541	Q9H583		UPI000013D4D4	NM_018072.5			23/45		hmmpanther:PTHR13457,hmmpanther:PTHR13457:SF1,Superfamily_domains:SSF48371																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	14	236574808	236574808	C	T	1	0	0	0	0	0	0	0	1	6910	697	25	3		3	HEATR1	1	236574808	Silent	SNP	C	C3L-00279_TP	348389	236574808	12381614	63	6138											
ACTN2	0	.	GRCh38	chr1	236739518	236739518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgccttcatgccctccgagGgcaagatggtgtcggtgagt	6	10	14	11	2	1	2	1	1	0	1	3	3	2	2	3	3	2	1	3	3	1	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1093G>T	p.Gly365Cys	p.G365C	ENST00000542672	10/21	672	544	128	505	505	0	strelka-varscan-mutect	ACTN2,missense_variant,p.Gly157Cys,ENST00000546208,NM_001278344.1;ACTN2,missense_variant,p.Gly365Cys,ENST00000542672,NM_001278343.1;ACTN2,missense_variant,p.Gly365Cys,ENST00000366578,NM_001103.3;ACTN2,non_coding_transcript_exon_variant,,ENST00000492634,;ACTN2,non_coding_transcript_exon_variant,,ENST00000494762,;	T	ENST00000542672	Transcript	missense_variant	1313/4906	1093/2685	365/894	G/C	Ggc/Tgc		1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1	deleterious(0)		10/21		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	236739518	236739518	G	T	1	0	0	0	0	1	0	0	0	249	1232	43	2		2	ACTN2	1	236739518	Missense_Mutation	SNP	G	C3L-00279_TP	164710	236739518	12216904	64	6139											
ZP4	0	.	GRCh38	chr1	237886840	237886840	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctagttgccaccagttcaTtttcatatactgctcggtct	7	15	6	13	1	3	0	2	0	1	0	4	0	3	0	3	1	3	3	3	1	3	7	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.770A>C	p.Asn257Thr	p.N257T	ENST00000611898	6/13	216	176	40	203	203	0	strelka-varscan-mutect	ZP4,missense_variant,p.Asn257Thr,ENST00000611898,NM_021186.3;ZP4,missense_variant,p.Asn257Thr,ENST00000366570,;RP11-193H5.1,intron_variant,,ENST00000450451,;	G	ENST00000611898	Transcript	missense_variant	1057/2474	770/1623	257/540	N/T	aAt/aCt		1		-1	ZP4	HGNC	HGNC:15770	protein_coding	YES	CCDS1615.1	ENSP00000482304	Q12836		UPI000006F0E4	NM_021186.3	deleterious(0.02)		6/13		Pfam_domain:PF00100,Prints_domain:PR00023,PROSITE_profiles:PS51034,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,SMART_domains:SM00241																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	14	237886840	237886840	T	G	1	0	0	0	0	1	0	0	0	18810	1493	52	5		5	ZP4	1	237886840	Missense_Mutation	SNP	T	C3L-00279_TP	1147322	237886840	11069582	65	6140											
CHRM3	0	.	GRCh38	chr1	239908785	239908785	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taagacttctgacgtcaactCctcagtgggtaagagcacgg	11	9	11	10	2	3	3	2	1	1	2	4	3	4	3	1	2	2	2	1	2	3	3	rs143159997		C3L-00279_TP	C3L-00279_NB	C	C																c.1334C>A	p.Ser445Tyr	p.S445Y	ENST00000255380	5/5	433	340	93	348	348	0	strelka-varscan-mutect	CHRM3,missense_variant,p.Ser445Tyr,ENST00000255380,NM_000740.2;CHRM3,missense_variant,p.Ser445Tyr,ENST00000615928,;CHRM3,downstream_gene_variant,,ENST00000448020,;	A	ENST00000255380	Transcript	missense_variant	2113/8780	1334/1773	445/590	S/Y	tCc/tAc	rs143159997	1		1	CHRM3	HGNC	HGNC:1952	protein_coding	YES	CCDS1616.1	ENSP00000255380	P20309	A0A024R3S2	UPI0000050453	NM_000740.2	deleterious(0)		5/5		Pfam_domain:PF00001,PROSITE_profiles:PS50262,SMART_domains:SM01381																	MODERATE	1	SNV	1			1										PASS		rs143159997	.												A	3	1	14	239908785	239908785	C	A	1	0	0	0	0	1	0	0	0	3138	855	30	2		2	CHRM3	1	239908785	Missense_Mutation	SNP	C	C3L-00279_TP	2021945	239908785	9047637	66	6141											
FMN2	0	.	GRCh38	chr1	240178000	240178000	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agaagggcagtttcctaggcGagttccatccatggggccac	9	8	13	11	1	0	1	0	0	0	1	3	2	3	1	4	4	0	3	4	4	2	3	rs777504752		C3L-00279_TP	C3L-00279_NB	G	G																c.1862G>C	p.Arg621Pro	p.R621P	ENST00000319653	3/18	144	132	12	118	118	0	strelka-varscan-mutect	FMN2,missense_variant,p.Arg621Pro,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,missense_variant,p.Arg54Pro,ENST00000447095,;RP11-567G24.3,non_coding_transcript_exon_variant,,ENST00000412311,;RP11-567G24.3,non_coding_transcript_exon_variant,,ENST00000444308,;	C	ENST00000319653	Transcript	missense_variant	2092/6434	1862/5169	621/1722	R/P	cGa/cCa	rs777504752,COSM311242,COSM4401885,COSM5212414	1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4	deleterious(0)		3/18													0,1,1,1						MODERATE		SNV	5		0,1,1,1	1										PASS		rs777504752	.												C	3	2	14	240178000	240178000	G	C	1	0	0	0	0	1	0	0	0	5806	1058	37	4		4	FMN2	1	240178000	Missense_Mutation	SNP	G	C3L-00279_TP	269215	240178000	8778422	67	6142											
RGS7	0	.	GRCh38	chr1	240806270	240806270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgccatatttcctgaactCttgagggtacttctttaata	9	17	6	9	0	2	2	0	2	2	0	3	2	3	2	2	1	3	1	2	1	5	9	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1139G>C	p.Arg380Thr	p.R380T	ENST00000366565	15/18	424	350	74	323	323	0	strelka-varscan-mutect	RGS7,missense_variant,p.Arg380Thr,ENST00000366565,NM_002924.5;RGS7,missense_variant,p.Arg380Thr,ENST00000366564,NM_001282778.1;RGS7,missense_variant,p.Arg380Thr,ENST00000366563,NM_001282775.1;RGS7,missense_variant,p.Arg327Thr,ENST00000348120,NM_001282773.1;RGS7,missense_variant,p.Arg211Thr,ENST00000440928,;	G	ENST00000366565	Transcript	missense_variant	1521/2494	1139/1464	380/487	R/T	aGa/aCa		1		-1	RGS7	HGNC	HGNC:10003	protein_coding	YES	CCDS31071.1	ENSP00000355523	P49802		UPI000040E182	NM_002924.5	tolerated(0.23)		15/18		PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF26,Pfam_domain:PF00615,Gene3D:1.10.167.10,SMART_domains:SM00315,Superfamily_domains:SSF48097,Prints_domain:PR01301																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	240806270	240806270	C	G	1	0	0	0	0	1	0	0	0	13481	913	32	4		4	RGS7	1	240806270	Missense_Mutation	SNP	C	C3L-00279_TP	628270	240806270	8150152	68	6143											
RGS7	0	.	GRCh38	chr1	240816363	240816363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggtttagtttctggtgtgGgtgtgtgggtaggactgtga	5	15	19	2	0	1	1	0	1	1	0	1	3	1	2	0	5	0	3	0	5	2	4			C3L-00279_TP	C3L-00279_NB	G	G																c.737C>A	p.Pro246His	p.P246H	ENST00000366565	11/18	443	369	74	123	123	0	strelka-varscan-mutect	RGS7,missense_variant,p.Pro246His,ENST00000366565,NM_002924.5;RGS7,missense_variant,p.Pro246His,ENST00000366564,NM_001282778.1;RGS7,missense_variant,p.Pro246His,ENST00000366563,NM_001282775.1;RGS7,missense_variant,p.Pro193His,ENST00000348120,NM_001282773.1;RGS7,missense_variant,p.Pro77His,ENST00000440928,;	T	ENST00000366565	Transcript	missense_variant	1119/2494	737/1464	246/487	P/H	cCc/cAc	COSM5095239,COSM5095240,COSM5095241	1		-1	RGS7	HGNC	HGNC:10003	protein_coding	YES	CCDS31071.1	ENSP00000355523	P49802		UPI000040E182	NM_002924.5	deleterious(0)		11/18		Low_complexity_(Seg):seg,Gene3D:4.10.260.10											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs1427324166	.												T	3	4	14	240816363	240816363	G	T	1	0	0	0	0	1	0	0	0	13481	1232	43	2		2	RGS7	1	240816363	Missense_Mutation	SNP	G	C3L-00279_TP	10093	240816363	8140059	69	6144											
ADSS	0	.	GRCh38	chr1	244420169	244420169	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tataagtcatatctcacttaCcaaaatcaatatctaatagt	17	14	2	8	0	4	0	3	0	2	0	5	0	4	0	1	0	1	0	1	0	10	7	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.790+1G>T		p.X264_splice	ENST00000366535		111	90	21	22	22	0	strelka-varscan-mutect	ADSS,splice_donor_variant,,ENST00000366535,NM_001126.3;ADSS,splice_donor_variant,,ENST00000462358,;ADSS,upstream_gene_variant,,ENST00000468215,;	A	ENST00000366535	Transcript	splice_donor_variant	-/2780	790/1371	264/456				1		-1	ADSS	HGNC	HGNC:292	protein_coding	YES	CCDS1624.1	ENSP00000355493	P30520	A0A024R5Q7	UPI0000132AF5	NM_001126.3				8/12																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	14	244420169	244420169	C	A	1	0	0	0	0	0	0	1	0	421	521	18	2		2	ADSS	1	244420169	Splice_Site	SNP	C	C3L-00279_TP	3603806	244420169	4536253	70	6145											
C1orf101	0	.	GRCh38	chr1	244572527	244572527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatacaggactatcccttaCatctggaagcacaaagtata	17	9	6	9	0	1	0	0	0	1	0	2	2	2	2	1	2	3	2	1	2	8	5	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1705C>A	p.His569Asn	p.H569N	ENST00000366534	11/22	332	288	44	98	98	0	strelka-varscan-mutect	C1orf101,missense_variant,p.His569Asn,ENST00000366534,NM_001130957.1;C1orf101,missense_variant,p.His418Asn,ENST00000366531,NM_001242340.1;C1orf101,missense_variant,p.His569Asn,ENST00000366533,NM_173807.4;C1orf101,missense_variant,p.His489Asn,ENST00000428042,;C1orf101,non_coding_transcript_exon_variant,,ENST00000473875,;	A	ENST00000366534	Transcript	missense_variant	1759/3333	1705/2856	569/951	H/N	Cat/Aat		1		1	C1orf101	HGNC	HGNC:28491	protein_coding	YES	CCDS44340.1	ENSP00000355492	Q5SY80		UPI00004701CD	NM_001130957.1	tolerated(0.37)		11/22		hmmpanther:PTHR33722:SF3,hmmpanther:PTHR33722,Pfam_domain:PF15020																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	14	244572527	244572527	C	A	1	0	0	0	0	1	0	0	0	1954	478	17	2		2	C1orf101	1	244572527	Missense_Mutation	SNP	C	C3L-00279_TP	152358	244572527	4383895	71	6146											
NLRP3	0	.	GRCh38	chr1	247444695	247444695	+	Frame_Shift_Del	DEL	C	C	-																															acactgctgctgggatctttCcacacttctgacctccagcc																								novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2886delC	p.Thr963HisfsTer3	p.T963Hfs*3	ENST00000336119	8/9	558	491	67	468	467	1	sindel-varindel-pindel	NLRP3,frameshift_variant,p.Thr906HisfsTer3,ENST00000366497,NM_001127461.2;NLRP3,frameshift_variant,p.Thr963HisfsTer3,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,frameshift_variant,p.Thr906HisfsTer3,ENST00000366496,;NLRP3,frameshift_variant,p.Thr963HisfsTer3,ENST00000391828,NM_001079821.2;NLRP3,frameshift_variant,p.Thr849HisfsTer3,ENST00000348069,NM_183395.2;NLRP3,frameshift_variant,p.Thr906HisfsTer3,ENST00000391827,NM_001127462.2;NLRP3,non_coding_transcript_exon_variant,,ENST00000532083,;	-	ENST00000336119	Transcript	frameshift_variant	3631/4170	2885/3111	962/1036	S/X	tCc/tc		1		1	NLRP3	HGNC	HGNC:16400	protein_coding	YES	CCDS1632.1	ENSP00000337383	Q96P20		UPI00001CE3AD	NM_004895.4,NM_001243133.1			8/9		Low_complexity_(Seg):seg,hmmpanther:PTHR24106:SF4,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	14	247444695	247444695	C	-	1	0	1	0	1	0	0	0	0	10516	855	30	0		0	NLRP3	1	247444695	Frame_Shift_Del	DEL	C	C3L-00279_TP	2872168	247444695	1511727	72	6147											
OR2M5	0	.	GRCh38	chr1	248145532	248145532	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctatattgccatttgccacCctctaagatacaccaatctc	11	12	4	14	0	2	1	0	0	2	1	3	1	2	1	4	0	3	1	4	0	5	6	rs150844237		C3L-00279_TP	C3L-00279_NB	C	C																c.385C>G	p.Pro129Ala	p.P129A	ENST00000366476	1/1	484	392	92	303	302	1	strelka-varscan-mutect	OR2M5,missense_variant,p.Pro129Ala,ENST00000366476,NM_001004690.1;	G	ENST00000366476	Transcript	missense_variant	385/939	385/939	129/312	P/A	Cct/Gct	rs150844237,COSM3486986,COSM4913165	1		1	OR2M5	HGNC	HGNC:19576	protein_coding	YES	CCDS31105.1	ENSP00000355432	A3KFT3		UPI00001612E2	NM_001004690.1	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF28,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245											0,1,1						MODERATE	1	SNV			0,1,1	1										PASS		rs150844237	.												G	3	3	14	248145532	248145532	C	G	1	0	0	0	0	1	0	0	0	11091	623	22	4		4	OR2M5	1	248145532	Missense_Mutation	SNP	C	C3L-00279_TP	700837	248145532	810890	73	6148											
OR2M3	0	.	GRCh38	chr1	248203973	248203973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgaccagagcattcatGaagatcttaggaaagggcaa	15	7	13	6	0	2	4	1	2	1	2	2	6	2	5	1	3	1	2	1	3	4	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.906G>T	p.Met302Ile	p.M302I	ENST00000456743	1/1	286	236	50	203	203	0	strelka-mutect	OR2M3,missense_variant,p.Met302Ile,ENST00000456743,NM_001004689.1;	T	ENST00000456743	Transcript	missense_variant	906/939	906/939	302/312	M/I	atG/atT		1		1	OR2M3	HGNC	HGNC:8269	protein_coding	YES	CCDS31107.1	ENSP00000389625	Q8NG83	A0A126GV67	UPI000004B234	NM_001004689.1	deleterious(0.01)		1/1		hmmpanther:PTHR26453:SF28,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	14	248203973	248203973	G	T	1	0	0	0	0	1	0	0	0	11089	1290	45	2		2	OR2M3	1	248203973	Missense_Mutation	SNP	G	C3L-00279_TP	58441	248203973	752449	74	6149											
OR2T1	0	.	GRCh38	chr1	248406860	248406860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaggaagaaggcatttgCcacttgctcatcccacatga	11	8	11	11	0	1	2	1	1	0	1	2	3	2	3	2	3	2	3	2	3	2	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.866C>G	p.Ala289Gly	p.A289G	ENST00000366474	1/1	206	158	48	175	175	0	strelka-varscan-mutect	OR2T1,missense_variant,p.Ala289Gly,ENST00000366474,NM_030904.1;	G	ENST00000366474	Transcript	missense_variant	866/1110	866/1110	289/369	A/G	gCc/gGc		1		1	OR2T1	HGNC	HGNC:8277	protein_coding	YES	CCDS31115.1	ENSP00000355430	O43869	A0A126GVY3	UPI00003B2872	NM_030904.1	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF125,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	14	248406860	248406860	C	G	1	0	0	0	0	1	0	0	0	11094	739	26	4		4	OR2T1	1	248406860	Missense_Mutation	SNP	C	C3L-00279_TP	202887	248406860	549562	75	6150											
GREB1	0	.	GRCh38	chr2	11618734	11618734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcctccctcctgccctccCcctcggtcatgtgggccagc	2	8	9	22	2	1	0	1	0	0	0	5	0	4	0	8	2	2	0	8	2	0	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.3859C>A	p.Pro1287Thr	p.P1287T	ENST00000381486	22/33	132	105	27	84	84	0	strelka-varscan-mutect	GREB1,missense_variant,p.Pro1287Thr,ENST00000381486,NM_014668.3;GREB1,missense_variant,p.Pro1287Thr,ENST00000234142,;GREB1,missense_variant,p.Pro285Thr,ENST00000396123,;GREB1,downstream_gene_variant,,ENST00000472040,;	A	ENST00000381486	Transcript	missense_variant	4159/8484	3859/5850	1287/1949	P/T	Ccc/Acc		1		1	GREB1	HGNC	HGNC:24885	protein_coding	YES	CCDS42655.1	ENSP00000370896	Q4ZG55		UPI0000163937	NM_014668.3	tolerated(0.4)		22/33		Pfam_domain:PF15782,hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13																	MODERATE	1	SNV	5			1										PASS		rs1459858496	.												A	3	1	14	11618734	11618734	C	A	1	0	0	0	0	1	0	0	0	6639	623	22	2		2	GREB1	2	11618734	Missense_Mutation	SNP	C	C3L-00279_TP		11618734	230574795	76	6151											
RAD51AP2	0	.	GRCh38	chr2	17515654	17515654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatatataatgcagagtcaTtctttctgtgaaaatccttt	13	17	5	6	0	3	2	1	1	2	1	4	2	4	2	1	0	1	1	1	0	6	7	rs766415253		C3L-00279_TP	C3L-00279_NB	T	T																c.2762A>G	p.Asn921Ser	p.N921S	ENST00000399080	1/3	70	57	13	21	21	0	strelka-varscan-mutect	RAD51AP2,missense_variant,p.Asn921Ser,ENST00000399080,NM_001321233.1,NM_001099218.2;	C	ENST00000399080	Transcript	missense_variant	2786/3724	2762/3480	921/1159	N/S	aAt/aGt	rs766415253	1		-1	RAD51AP2	HGNC	HGNC:34417	protein_coding	YES	CCDS42656.1	ENSP00000382030	Q09MP3		UPI0000418FD4	NM_001321233.1,NM_001099218.2	deleterious(0.01)		1/3		hmmpanther:PTHR15361,hmmpanther:PTHR15361:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	14	17515654	17515654	T	C	1	0	0	0	0	1	0	0	0	13148	1493	52	5		5	RAD51AP2	2	17515654	Missense_Mutation	SNP	T	C3L-00279_TP	5896920	17515654	224677875	77	6152											
ITSN2	0	.	GRCh38	chr2	24246826	24246826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggtgtggctctttcaCtacttggacccaaaagttta	10	12	10	9	0	2	0	1	0	1	0	2	1	2	1	1	4	1	3	1	4	4	5	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.3356G>A	p.Ser1119Asn	p.S1119N	ENST00000355123	28/40	256	226	30	157	157	0	strelka-varscan-mutect	ITSN2,missense_variant,p.Ser1119Asn,ENST00000355123,NM_006277.2;ITSN2,missense_variant,p.Ser1092Asn,ENST00000361999,NM_019595.3;ITSN2,missense_variant,p.Ser1102Asn,ENST00000622089,;ITSN2,missense_variant,p.Ser1119Asn,ENST00000406921,NM_147152.2;ITSN2,missense_variant,p.Ser47Asn,ENST00000416160,;	T	ENST00000355123	Transcript	missense_variant	3800/6300	3356/5094	1119/1697	S/N	aGt/aAt		1		-1	ITSN2	HGNC	HGNC:6184	protein_coding	YES	CCDS1710.2	ENSP00000347244	Q9NZM3		UPI000013D415	NM_006277.2	tolerated(0.08)		28/40		hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF29,Gene3D:2.30.30.40,Superfamily_domains:SSF50044,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	24246826	24246826	C	T	1	0	0	0	0	1	0	0	0	7833	565	20	3		3	ITSN2	2	24246826	Missense_Mutation	SNP	C	C3L-00279_TP	6731172	24246826	217946703	78	6153											
DNMT3A	0	.	GRCh38	chr2	25282431	25282431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaggctgcccctggtgctGaggactcacccgcttctgca	7	8	12	14	1	2	2	1	1	1	1	2	3	2	3	3	3	3	4	3	3	1	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.458C>T	p.Ser153Leu	p.S153L	ENST00000406659	4/4	282	240	42	249	249	0	strelka-varscan-mutect	DNMT3A,missense_variant,p.Ser153Leu,ENST00000406659,NM_001320892.1,NM_175630.1;DNMT3A,intron_variant,,ENST00000264709,NM_175629.2;DNMT3A,intron_variant,,ENST00000321117,NM_022552.4;DNMT3A,intron_variant,,ENST00000380756,;	A	ENST00000406659	Transcript	missense_variant	796/1775	458/501	153/166	S/L	tCa/tTa		1		-1	DNMT3A	HGNC	HGNC:2978	protein_coding		CCDS46232.1	ENSP00000384852	Q9Y6K1		UPI00001602D1	NM_001320892.1,NM_175630.1	tolerated_low_confidence(0.73)		4/4		Low_complexity_(Seg):seg																	MODERATE		SNV	1			1										PASS		.	.												A	3	1	14	25282431	25282431	G	A	1	0	0	0	0	1	0	0	0	4489	1294	45	3		3	DNMT3A	2	25282431	Missense_Mutation	SNP	G	C3L-00279_TP	1035605	25282431	216911098	79	6154											
DTNB	0	.	GRCh38	chr2	25388277	25388277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgggtgggggtggagcCggcagacgtggagcgcactg	7	5	21	8	3	0	1	0	0	0	1	0	3	0	3	1	6	2	2	1	6	0	0	rs202036284		C3L-00279_TP	C3L-00279_NB	C	C																c.1660G>A	p.Gly554Ser	p.G554S	ENST00000406818	17/21	229	193	36	168	168	0	strelka-varscan-mutect	DTNB,missense_variant,p.Gly554Ser,ENST00000406818,NM_021907.4;DTNB,missense_variant,p.Gly547Ser,ENST00000288642,NM_001256303.1;DTNB,missense_variant,p.Gly554Ser,ENST00000407661,NM_183360.2,NM_001256304.1;DTNB,missense_variant,p.Gly554Ser,ENST00000404103,NM_033147.3;DTNB,missense_variant,p.Gly490Ser,ENST00000496972,NM_001256308.1;DTNB,missense_variant,p.Gly524Ser,ENST00000407038,NM_033148.3;DTNB,missense_variant,p.Gly517Ser,ENST00000407186,NM_001320933.1,NM_001320934.1;DTNB,missense_variant,p.Gly517Ser,ENST00000405222,NM_183361.2;DTNB,downstream_gene_variant,,ENST00000481841,;DTNB,upstream_gene_variant,,ENST00000497476,;DTNB,3_prime_UTR_variant,,ENST00000398951,NM_001320932.1;DTNB,3_prime_UTR_variant,,ENST00000356599,;DTNB,non_coding_transcript_exon_variant,,ENST00000479898,;DTNB,non_coding_transcript_exon_variant,,ENST00000489949,;DTNB,non_coding_transcript_exon_variant,,ENST00000482145,;DTNB,non_coding_transcript_exon_variant,,ENST00000498437,;	T	ENST00000406818	Transcript	missense_variant	1910/2474	1660/1884	554/627	G/S	Ggc/Agc	rs202036284	1		-1	DTNB	HGNC	HGNC:3058	protein_coding	YES	CCDS46237.1	ENSP00000384084	O60941		UPI0000129949	NM_021907.4	tolerated(0.6)		17/21		PIRSF_domain:PIRSF038204,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF309																	MODERATE	1	SNV	1			1										PASS		rs202036284	.												T	3	4	14	25388277	25388277	C	T	1	0	0	0	0	1	0	0	0	4612	652	23	1		1	DTNB	2	25388277	Missense_Mutation	SNP	C	C3L-00279_TP	105846	25388277	216805252	80	6155											
YPEL5	0	.	GRCh38	chr2	30158781	30158781	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaaggccgcgtgatcctgGaacgtgctctagttcgagag	9	8	15	9	4	1	2	0	1	1	1	3	5	2	4	2	3	2	2	2	3	3	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.304G>T	p.Glu102Ter	p.E102*	ENST00000379520	5/5	429	381	48	374	374	0	strelka-varscan	YPEL5,stop_gained,p.Glu102Ter,ENST00000379520,NM_001127401.1;YPEL5,stop_gained,p.Glu102Ter,ENST00000379519,NM_001127400.1;YPEL5,stop_gained,p.Glu102Ter,ENST00000402003,NM_001127399.1;YPEL5,stop_gained,p.Glu102Ter,ENST00000261353,NM_016061.2;YPEL5,stop_gained,p.Glu102Ter,ENST00000402708,;YPEL5,non_coding_transcript_exon_variant,,ENST00000495673,;YPEL5,non_coding_transcript_exon_variant,,ENST00000470120,;YPEL5,downstream_gene_variant,,ENST00000492439,;YPEL5,downstream_gene_variant,,ENST00000490211,;	T	ENST00000379520	Transcript	stop_gained	808/2560	304/366	102/121	E/*	Gaa/Taa		1		1	YPEL5	HGNC	HGNC:18329	protein_coding	YES	CCDS1771.1	ENSP00000368835	P62699		UPI000000407C	NM_001127401.1			5/5		Pfam_domain:PF03226,hmmpanther:PTHR13848																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	14	30158781	30158781	G	T	1	0	0	0	0	0	1	0	0	18055	1175	41	2		2	YPEL5	2	30158781	Nonsense_Mutation	SNP	G	C3L-00279_TP	4770504	30158781	212034748	81	6156											
SLC8A1	0	.	GRCh38	chr2	40160805	40160805	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgaactgttctctccaGctgttagtcccaaccacaag	11	11	6	13	0	2	1	1	1	1	0	5	1	4	1	3	0	3	3	3	0	5	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2229C>G	p.Ser743Arg	p.S743R	ENST00000403092	9/11	411	370	41	282	282	0	strelka-varscan	SLC8A1,missense_variant,p.Ser707Arg,ENST00000406785,;SLC8A1,missense_variant,p.Ser743Arg,ENST00000403092,;SLC8A1,missense_variant,p.Ser738Arg,ENST00000405901,NM_001112800.1;SLC8A1,missense_variant,p.Ser707Arg,ENST00000402441,NM_001112802.1;SLC8A1,missense_variant,p.Ser707Arg,ENST00000405269,;SLC8A1,missense_variant,p.Ser743Arg,ENST00000332839,NM_021097.2;SLC8A1,missense_variant,p.Ser735Arg,ENST00000408028,NM_001112801.1,NM_001252624.1;SLC8A1,missense_variant,p.Ser707Arg,ENST00000406391,;SLC8A1-AS1,intron_variant,,ENST00000444629,;SLC8A1-AS1,intron_variant,,ENST00000625324,;SLC8A1-AS1,intron_variant,,ENST00000593848,;SLC8A1-AS1,intron_variant,,ENST00000625780,;SLC8A1-AS1,intron_variant,,ENST00000598247,;SLC8A1-AS1,intron_variant,,ENST00000593878,;SLC8A1-AS1,intron_variant,,ENST00000596532,;SLC8A1-AS1,intron_variant,,ENST00000625234,;SLC8A1-AS1,intron_variant,,ENST00000631022,;SLC8A1-AS1,intron_variant,,ENST00000599268,;SLC8A1-AS1,intron_variant,,ENST00000631142,;SLC8A1-AS1,intron_variant,,ENST00000628471,;SLC8A1-AS1,intron_variant,,ENST00000601679,;SLC8A1-AS1,intron_variant,,ENST00000435515,;SLC8A1-AS1,intron_variant,,ENST00000597385,;SLC8A1-AS1,intron_variant,,ENST00000627219,;SLC8A1-AS1,intron_variant,,ENST00000629329,;SLC8A1-AS1,intron_variant,,ENST00000599956,;SLC8A1-AS1,intron_variant,,ENST00000597170,;SLC8A1-AS1,intron_variant,,ENST00000629180,;SLC8A1-AS1,intron_variant,,ENST00000629157,;SLC8A1-AS1,intron_variant,,ENST00000631204,;SLC8A1-AS1,intron_variant,,ENST00000630783,;SLC8A1-AS1,intron_variant,,ENST00000625381,;SLC8A1-AS1,intron_variant,,ENST00000631137,;SLC8A1-AS1,intron_variant,,ENST00000627108,;SLC8A1-AS1,intron_variant,,ENST00000626098,;SLC8A1-AS1,intron_variant,,ENST00000631330,;SLC8A1-AS1,intron_variant,,ENST00000630006,;SLC8A1-AS1,intron_variant,,ENST00000599740,;SLC8A1,3_prime_UTR_variant,,ENST00000407929,;	C	ENST00000403092	Transcript	missense_variant	2263/3178	2229/2922	743/973	S/R	agC/agG		1		-1	SLC8A1	HGNC	HGNC:11068	protein_coding	YES	CCDS1806.1	ENSP00000384763	P32418		UPI000012FC46		deleterious(0)		9/11		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,TIGRFAM_domain:TIGR00845																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	14	40160805	40160805	G	C	1	0	0	0	0	1	0	0	0	14989	962	34	4		4	SLC8A1	2	40160805	Missense_Mutation	SNP	G	C3L-00279_TP	10002024	40160805	202032724	82	6157											
BCL11A	0	.	GRCh38	chr2	60460802	60460802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccctccgtccagctcccCgggcggtgtggagaagcgca	6	6	14	15	4	0	1	0	0	0	1	4	3	4	1	5	3	2	2	5	3	1	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2110G>T	p.Gly704Trp	p.G704W	ENST00000335712	4/4	279	243	36	272	271	1	strelka-varscan	BCL11A,missense_variant,p.Gly704Trp,ENST00000335712,NM_022893.3;BCL11A,missense_variant,p.Gly704Trp,ENST00000356842,NM_018014.3;BCL11A,missense_variant,p.Gly670Trp,ENST00000358510,;BCL11A,intron_variant,,ENST00000359629,NM_138559.1;BCL11A,intron_variant,,ENST00000489516,;BCL11A,upstream_gene_variant,,ENST00000479026,;BCL11A,non_coding_transcript_exon_variant,,ENST00000477659,;BCL11A,intron_variant,,ENST00000492272,;BCL11A,3_prime_UTR_variant,,ENST00000631857,;	A	ENST00000335712	Transcript	missense_variant	2338/5942	2110/2508	704/835	G/W	Ggg/Tgg		1		-1	BCL11A	HGNC	HGNC:13221	protein_coding	YES	CCDS1862.1	ENSP00000338774	Q9H165	D6W5D9	UPI000013DC00	NM_022893.3	deleterious(0)		4/4		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	60460802	60460802	C	A	1	0	0	0	0	1	0	0	0	1510	652	23	1		1	BCL11A	2	60460802	Missense_Mutation	SNP	C	C3L-00279_TP	20299997	60460802	181732727	83	6158											
PLEK	0	.	GRCh38	chr2	68386607	68386607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggggtatctgcagcctgCtggagacatgtccaagagtg	9	9	15	8	0	1	3	0	1	1	2	2	4	2	3	2	3	3	3	2	3	2	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.578C>T	p.Ala193Val	p.A193V	ENST00000234313	5/9	218	197	21	217	216	1	strelka-varscan	PLEK,missense_variant,p.Ala193Val,ENST00000234313,NM_002664.2;PLEK,upstream_gene_variant,,ENST00000474788,;	T	ENST00000234313	Transcript	missense_variant	757/2869	578/1053	193/350	A/V	gCt/gTt		1		1	PLEK	HGNC	HGNC:9070	protein_coding	YES	CCDS1887.1	ENSP00000234313	P08567		UPI00002085C1	NM_002664.2	tolerated(1)		5/9		PROSITE_profiles:PS50186,hmmpanther:PTHR12092,hmmpanther:PTHR12092:SF1,Gene3D:1.10.10.10,Pfam_domain:PF00610,SMART_domains:SM00049,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	68386607	68386607	C	T	1	0	0	0	0	1	0	0	0	12146	797	28	3		3	PLEK	2	68386607	Missense_Mutation	SNP	C	C3L-00279_TP	7925805	68386607	173806922	84	6159											
FIGLA	0	.	GRCh38	chr2	70787782	70787782	+	Missense_Mutation	SNP	C	C	A																															gtgccttcaatctggcaaaaCcacggttgagattttttatc																								novel		C3L-00279_TP	C3L-00279_NB	C	C																c.251G>T	p.Gly84Val	p.G84V	ENST00000332372	2/5	284	254	30	233	233	0	strelka-varscan	FIGLA,missense_variant,p.Gly84Val,ENST00000332372,NM_001004311.3;	A	ENST00000332372	Transcript	missense_variant	256/722	251/660	84/219	G/V	gGt/gTt		1		-1	FIGLA	HGNC	HGNC:24669	protein_coding	YES	CCDS46320.1	ENSP00000333097	Q6QHK4		UPI000041902B	NM_001004311.3	deleterious(0.01)		2/5		Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF57,SMART_domains:SM00353,Superfamily_domains:SSF47459																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	70787782	70787782	C	A	1	0	0	0	0	1	0	0	0	5754	507	18	2		2	FIGLA	2	70787782	Missense_Mutation	SNP	C	C3L-00279_TP	2401175	70787782	171405747	85	6160	142	2									
FIGLA	0	.	GRCh38	chr2	70787785	70787785	+	Missense_Mutation	SNP	C	C	A																															ccttcaatctggcaaaaccaCggttgagattttttatctag																								rs199702150		C3L-00279_TP	C3L-00279_NB	C	C																c.248G>T	p.Arg83Leu	p.R83L	ENST00000332372	2/5	276	246	30	231	231	0	strelka-varscan	FIGLA,missense_variant,p.Arg83Leu,ENST00000332372,NM_001004311.3;	A	ENST00000332372	Transcript	missense_variant	253/722	248/660	83/219	R/L	cGt/cTt	rs199702150	1		-1	FIGLA	HGNC	HGNC:24669	protein_coding	YES	CCDS46320.1	ENSP00000333097	Q6QHK4		UPI000041902B	NM_001004311.3	deleterious(0.02)		2/5		Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF57,SMART_domains:SM00353,Superfamily_domains:SSF47459																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	70787785	70787785	C	A	1	0	0	0	0	1	0	0	0	5754	536	19	1		1	FIGLA	2	70787785	Missense_Mutation	SNP	C	C3L-00279_TP	3	70787785	171405744	86	6161	142	2									
ALMS1	0	.	GRCh38	chr2	73572932	73572932	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttaaaagcctagagaaaagCcataaaaatacaggcgagct	19	7	8	7	1	0	1	0	0	0	1	0	3	0	1	2	1	4	1	2	1	9	5	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.11055C>A	p.Ser3685Arg	p.S3685R	ENST00000613296	16/23	328	289	39	205	204	1	strelka-varscan	ALMS1,missense_variant,p.Ser3685Arg,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Ser3643Arg,ENST00000484298,;ALMS1,missense_variant,p.Ser3685Arg,ENST00000614410,;ALMS1,3_prime_UTR_variant,,ENST00000423048,;ALMS1,non_coding_transcript_exon_variant,,ENST00000620466,;	A	ENST00000613296	Transcript	missense_variant	11166/12925	11055/12507	3685/4168	S/R	agC/agA		1		1	ALMS1	HGNC	HGNC:428	protein_coding	YES	CCDS42697.1	ENSP00000482968		A0A087WZY3	UPI00046209B2	NM_015120.4	tolerated(0.36)		16/23		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	73572932	73572932	C	A	1	0	0	0	0	1	0	0	0	635	738	26	2		2	ALMS1	2	73572932	Missense_Mutation	SNP	C	C3L-00279_TP	2785147	73572932	168620597	87	6162											
SEMA4F	0	.	GRCh38	chr2	74656585	74656585	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctcacacatacaattactCtgttctccttgtggatcctg	8	14	5	14	0	3	0	1	0	2	0	5	1	4	1	3	1	2	1	3	1	3	4			C3L-00279_TP	C3L-00279_NB	C	C																c.197C>G	p.Ser66Cys	p.S66C	ENST00000357877	2/14	185	157	28	136	136	0	strelka-varscan	SEMA4F,missense_variant,p.Ser66Cys,ENST00000611975,NM_001271662.1;SEMA4F,missense_variant,p.Ser66Cys,ENST00000357877,NM_004263.4;SEMA4F,missense_variant,p.Ser66Cys,ENST00000339773,NM_001271661.1;SEMA4F,missense_variant,p.Ser66Cys,ENST00000453930,;SEMA4F,missense_variant,p.Ser66Cys,ENST00000434486,;SEMA4F,missense_variant,p.Ser66Cys,ENST00000446927,;SEMA4F,missense_variant,p.Ser66Cys,ENST00000420077,;SEMA4F,3_prime_UTR_variant,,ENST00000416236,;SEMA4F,intron_variant,,ENST00000458114,;	G	ENST00000357877	Transcript	missense_variant	346/4312	197/2313	66/770	S/C	tCt/tGt	COSM4923953	1		1	SEMA4F	HGNC	HGNC:10734	protein_coding	YES	CCDS1955.1	ENSP00000350547	O95754		UPI0000001BF5	NM_004263.4	deleterious(0)		2/14		PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF72,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	14	74656585	74656585	C	G	1	0	0	0	0	1	0	0	0	14311	913	32	4		4	SEMA4F	2	74656585	Missense_Mutation	SNP	C	C3L-00279_TP	1083653	74656585	167536944	88	6163											
DUSP2	0	.	GRCh38	chr2	96144333	96144333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgacgagtgactgcagCtgcccaggaacaggtagggc	9	6	16	10	1	1	2	0	2	1	0	1	4	1	3	1	4	4	3	1	4	2	1	rs369325506		C3L-00279_TP	C3L-00279_NB	C	C																c.551G>T	p.Ser184Ile	p.S184I	ENST00000288943	3/4	280	234	46	231	231	0	strelka-varscan	DUSP2,missense_variant,p.Ser184Ile,ENST00000288943,NM_004418.3;AC012307.2,downstream_gene_variant,,ENST00000449242,;DUSP2,non_coding_transcript_exon_variant,,ENST00000488952,;	A	ENST00000288943	Transcript	missense_variant	637/1688	551/945	184/314	S/I	aGc/aTc	rs369325506	1		-1	DUSP2	HGNC	HGNC:3068	protein_coding	YES	CCDS2016.1	ENSP00000288943	Q05923		UPI000012995D	NM_004418.3	deleterious(0)		3/4		Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF000939,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF109,SMART_domains:SM00195,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	96144333	96144333	C	A	1	0	0	0	0	1	0	0	0	4641	797	28	2		2	DUSP2	2	96144333	Missense_Mutation	SNP	C	C3L-00279_TP	21487748	96144333	146049196	89	6164											
AFF3	0	.	GRCh38	chr2	99593290	99593290	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtccttggtggcaggggCgctcaatacccctggctcct	6	9	13	13	1	1	1	1	0	0	1	3	1	3	1	4	5	1	3	4	5	2	2	rs200976815		C3L-00279_TP	C3L-00279_NB	C	C																c.2446G>T	p.Ala816Ser	p.A816S	ENST00000409579	15/25	176	151	25	118	118	0	strelka-varscan	AFF3,missense_variant,p.Ala791Ser,ENST00000409236,;AFF3,missense_variant,p.Ala791Ser,ENST00000317233,NM_002285.2;AFF3,missense_variant,p.Ala816Ser,ENST00000409579,NM_001025108.1;	A	ENST00000409579	Transcript	missense_variant	2679/4342	2446/3756	816/1251	A/S	Gcc/Tcc	rs200976815	1		-1	AFF3	HGNC	HGNC:6473	protein_coding	YES	CCDS33258.1	ENSP00000386834	P51826		UPI0000545269	NM_001025108.1	tolerated(0.32)		15/25		hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF16,Pfam_domain:PF05110																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	14	99593290	99593290	C	A	1	0	0	0	0	1	0	0	0	435	768	27	1		1	AFF3	2	99593290	Missense_Mutation	SNP	C	C3L-00279_TP	3448957	99593290	142600239	90	6165											
SLC9A2	0	.	GRCh38	chr2	102657562	102657562	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttattttttccttaccAggcttccatctgtatcacaa	8	19	4	10	0	2	0	1	0	1	0	4	0	4	0	3	1	1	3	3	1	4	9	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.290-2A>T		p.X97_splice	ENST00000233969		96	79	17	57	57	0	strelka-varscan	SLC9A2,splice_acceptor_variant,,ENST00000233969,NM_003048.4;	T	ENST00000233969	Transcript	splice_acceptor_variant	-/5410	290/2439	97/812				1		1	SLC9A2	HGNC	HGNC:11072	protein_coding	YES	CCDS2062.1	ENSP00000233969	Q9UBY0		UPI000012FD21	NM_003048.4				1/11																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	14	102657562	102657562	A	T	1	0	0	0	0	0	0	1	0	14994	202	7	4		4	SLC9A2	2	102657562	Splice_Site	SNP	A	C3L-00279_TP	3064272	102657562	139535967	91	6166											
ZC3H6	0	.	GRCh38	chr2	112331346	112331346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagtttgatttgcatcatGcaaatgctggcactaatgtc	12	13	8	8	0	1	1	1	1	0	0	2	1	1	1	0	1	3	5	0	1	3	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2428G>T	p.Ala810Ser	p.A810S	ENST00000409871	12/12	239	213	26	165	164	1	strelka-varscan	ZC3H6,missense_variant,p.Ala810Ser,ENST00000409871,NM_198581.2;ZC3H6,missense_variant,p.Ala810Ser,ENST00000343936,;ZC3H6,upstream_gene_variant,,ENST00000502881,;	T	ENST00000409871	Transcript	missense_variant	2829/11542	2428/3570	810/1189	A/S	Gca/Tca		1		1	ZC3H6	HGNC	HGNC:24762	protein_coding	YES	CCDS46393.1	ENSP00000386764	P61129		UPI00004215E8	NM_198581.2	tolerated(0.99)		12/12		hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF22																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	14	112331346	112331346	G	T	1	0	0	0	0	1	0	0	0	18146	1319	46	2		2	ZC3H6	2	112331346	Missense_Mutation	SNP	G	C3L-00279_TP	9673784	112331346	129862183	92	6167											
CNTNAP5	0	.	GRCh38	chr2	124747248	124747248	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatggaacaccatttacctgGtggattgggcggtccaatga	10	10	13	8	1	0	1	0	1	0	0	1	4	1	3	3	5	2	0	3	5	3	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2094G>A	p.Trp698Ter	p.W698*	ENST00000431078	14/24	203	166	37	185	185	0	strelka-varscan	CNTNAP5,stop_gained,p.Trp698Ter,ENST00000431078,NM_130773.3;	A	ENST00000431078	Transcript	stop_gained	2458/5284	2094/3921	698/1306	W/*	tgG/tgA		1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3			14/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF665																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	14	124747248	124747248	G	A	1	0	0	0	0	0	1	0	0	3432	1270	44	3		3	CNTNAP5	2	124747248	Nonsense_Mutation	SNP	G	C3L-00279_TP	12415902	124747248	117446281	93	6168											
GPR148	0	.	GRCh38	chr2	130729158	130729158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgccaggaagcatggggGatgagctggcaccttgccct	7	7	14	13	0	0	1	0	1	0	0	0	3	0	3	4	4	4	3	4	4	1	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.7G>T	p.Asp3Tyr	p.D3Y	ENST00000309926	1/1	18	11	7	14	14	0	strelka-varscan	GPR148,missense_variant,p.Asp3Tyr,ENST00000309926,NM_207364.2;	T	ENST00000309926	Transcript	missense_variant	89/1267	7/1044	3/347	D/Y	Gat/Tat		1		1	GPR148	HGNC	HGNC:23623	protein_coding	YES	CCDS2163.1	ENSP00000308908	Q8TDV2		UPI0000048E0D	NM_207364.2	deleterious(0.05)		1/1																			MODERATE	1	SNV				1										PASS		.	.												T	3	4	14	130729158	130729158	G	T	1	0	0	0	0	1	0	0	0	6539	1174	41	2		2	GPR148	2	130729158	Missense_Mutation	SNP	G	C3L-00279_TP	5981910	130729158	111464371	94	6169											
MAP3K19	0	.	GRCh38	chr2	134980949	134980949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatggaagccagtggaggCttccctgtagccatctcaaa	10	9	10	12	0	1	0	1	0	1	0	4	2	3	2	4	3	2	2	4	3	3	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.3792G>T	p.Lys1264Asn	p.K1264N	ENST00000392915	12/13	459	400	59	366	364	2	strelka-varscan	MAP3K19,missense_variant,p.Lys1264Asn,ENST00000392915,;MAP3K19,missense_variant,p.Lys1264Asn,ENST00000375845,NM_025052.4;MAP3K19,missense_variant,p.Lys1151Asn,ENST00000358371,NM_001018044.2;MAP3K19,missense_variant,p.Lys654Asn,ENST00000437365,;MAP3K19,missense_variant,p.Lys396Asn,ENST00000392917,NM_001282883.1;MAP3K19,missense_variant,p.Lys446Asn,ENST00000375844,NM_001018046.2;MAP3K19,missense_variant,p.Lys398Asn,ENST00000392918,NM_001018047.2;MAP3K19,downstream_gene_variant,,ENST00000637841,;MAP3K19,non_coding_transcript_exon_variant,,ENST00000638025,;MAP3K19,non_coding_transcript_exon_variant,,ENST00000478805,;	A	ENST00000392915	Transcript	missense_variant	4476/5030	3792/3987	1264/1328	K/N	aaG/aaT		1		-1	MAP3K19	HGNC	HGNC:26249	protein_coding	YES	CCDS2176.2	ENSP00000376647		A8MWG7	UPI00004F77F2		deleterious(0)		12/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	14	134980949	134980949	C	A	1	0	0	0	0	1	0	0	0	9172	796	28	2		2	MAP3K19	2	134980949	Missense_Mutation	SNP	C	C3L-00279_TP	4251791	134980949	107212580	95	6170											
LRP1B	0	.	GRCh38	chr2	140907957	140907957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggctgcaggcagactgagGtgtcattagcacaaggatgc	10	8	14	9	0	1	2	1	1	0	1	1	3	1	3	0	4	3	4	0	4	2	1			C3L-00279_TP	C3L-00279_NB	G	G																c.3440C>T	p.Thr1147Ile	p.T1147I	ENST00000389484	22/91	340	302	38	232	230	2	strelka-varscan	LRP1B,missense_variant,p.Thr1147Ile,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Thr292Ile,ENST00000434794,;	A	ENST00000389484	Transcript	missense_variant	4412/16535	3440/13800	1147/4599	T/I	aCc/aTc	COSM370021	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0)		22/91		PROSITE_profiles:PS50068,hmmpanther:PTHR10529:SF105,hmmpanther:PTHR10529,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	14	140907957	140907957	G	A	1	0	0	0	0	1	0	0	0	8850	1261	44	3		3	LRP1B	2	140907957	Missense_Mutation	SNP	G	C3L-00279_TP	5927008	140907957	101285572	96	6171											
LY75	0	.	GRCh38	chr2	159840857	159840857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcagacactcccttttagCactgtgccaagtcagagtct	9	13	7	12	0	3	2	2	0	1	2	4	2	4	2	2	0	2	1	2	0	2	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.3379G>C	p.Ala1127Pro	p.A1127P	ENST00000263636	25/35	556	481	75	430	430	0	strelka-varscan	LY75,missense_variant,p.Ala1127Pro,ENST00000263636,NM_002349.3;LY75-CD302,missense_variant,p.Ala1127Pro,ENST00000504764,NM_001198759.1;LY75-CD302,missense_variant,p.Ala1127Pro,ENST00000505052,NM_001198760.1;	G	ENST00000263636	Transcript	missense_variant	3407/6886	3379/5169	1127/1722	A/P	Gct/Cct		1		-1	LY75	HGNC	HGNC:6729	protein_coding	YES	CCDS2211.1	ENSP00000263636	O60449		UPI00001AE885	NM_002349.3	deleterious(0)		25/35		PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF65,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	159840857	159840857	C	G	1	0	0	0	0	1	0	0	0	9010	710	25	4		4	LY75	2	159840857	Missense_Mutation	SNP	C	C3L-00279_TP	18932900	159840857	82352672	97	6172											
SLC4A10	0	.	GRCh38	chr2	161957033	161957033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctattaatggtggctgtcatGctcggtgtatgctccatcat	7	15	10	9	1	2	0	2	0	0	0	4	0	3	0	1	3	2	4	1	3	3	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2586G>T	p.Met862Ile	p.M862I	ENST00000446997	20/27	331	277	54	284	284	0	strelka-varscan	SLC4A10,missense_variant,p.Met843Ile,ENST00000375514,NM_001178016.1;SLC4A10,missense_variant,p.Met832Ile,ENST00000415876,NM_022058.3;SLC4A10,missense_variant,p.Met862Ile,ENST00000446997,NM_001178015.1;SLC4A10,missense_variant,p.Met832Ile,ENST00000272716,;SLC4A10,missense_variant,p.Met862Ile,ENST00000421911,;SLC4A10,3_prime_UTR_variant,,ENST00000446228,;	T	ENST00000446997	Transcript	missense_variant	2679/5551	2586/3357	862/1118	M/I	atG/atT		1		1	SLC4A10	HGNC	HGNC:13811	protein_coding	YES	CCDS54411.1	ENSP00000393066	Q6U841		UPI00001D4707	NM_001178015.1	deleterious(0.03)		20/27		Transmembrane_helices:TMhelix,hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	161957033	161957033	G	T	1	0	0	0	0	1	0	0	0	14928	1319	46	2		2	SLC4A10	2	161957033	Missense_Mutation	SNP	G	C3L-00279_TP	2116176	161957033	80236496	98	6173											
XIRP2	0	.	GRCh38	chr2	166903634	166903634	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgcctgaaggagaggtagTatcagcacctcaatctttgg	10	10	12	9	1	3	2	2	1	1	1	3	3	3	2	2	3	2	3	2	3	4	3	rs775164919		C3L-00279_TP	C3L-00279_NB	T	T																c.152T>A	p.Val51Glu	p.V51E	ENST00000409195	2/11	345	301	44	279	279	0	strelka-varscan	XIRP2,missense_variant,p.Val51Glu,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Val51Glu,ENST00000409728,NM_001199143.1;XIRP2,missense_variant,p.Val51Glu,ENST00000409043,NM_001079810.3;	A	ENST00000409195	Transcript	missense_variant	241/12675	152/10650	51/3549	V/E	gTa/gAa	rs775164919	1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious_low_confidence(0.04)		2/11																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	14	166903634	166903634	T	A	1	0	0	0	0	1	0	0	0	17989	1638	57	4		4	XIRP2	2	166903634	Missense_Mutation	SNP	T	C3L-00279_TP	4946601	166903634	75289895	99	6174											
XIRP2	0	.	GRCh38	chr2	167244780	167244780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcaaaacttgtacttggCtctttgaaactcagccactt	11	14	6	10	0	3	1	2	1	1	0	3	1	3	1	1	1	4	2	1	1	4	5	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.3388C>A	p.Leu1130Ile	p.L1130I	ENST00000409195	9/11	179	152	27	55	55	0	strelka-varscan	XIRP2,missense_variant,p.Leu1130Ile,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Leu908Ile,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Leu955Ile,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	A	ENST00000409195	Transcript	missense_variant	3477/12675	3388/10650	1130/3549	L/I	Ctc/Atc		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious(0.01)		9/11		Pfam_domain:PF08043,PROSITE_profiles:PS51389,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	14	167244780	167244780	C	A	1	0	0	0	0	1	0	0	0	17989	797	28	2		2	XIRP2	2	167244780	Missense_Mutation	SNP	C	C3L-00279_TP	341146	167244780	74948749	100	6175											
NOSTRIN	0	.	GRCh38	chr2	168843078	168843078	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatggcgggttattctacCagactgaaatgggaaaacac	15	8	10	8	1	1	2	0	1	1	1	1	3	1	3	1	3	3	1	1	3	6	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.591C>G	p.=	p.T197T	ENST00000444448	10/19	97	86	11	41	41	0	strelka-varscan	NOSTRIN,synonymous_variant,p.=,ENST00000444448,;NOSTRIN,synonymous_variant,p.=,ENST00000458381,NM_001171631.1;NOSTRIN,synonymous_variant,p.=,ENST00000317647,NM_001039724.3;NOSTRIN,synonymous_variant,p.=,ENST00000445023,NM_052946.3;NOSTRIN,synonymous_variant,p.=,ENST00000397206,;NOSTRIN,synonymous_variant,p.=,ENST00000397209,NM_001171632.1;NOSTRIN,synonymous_variant,p.=,ENST00000447264,;SPC25,intron_variant,,ENST00000479309,;NOSTRIN,non_coding_transcript_exon_variant,,ENST00000486873,;	G	ENST00000444448	Transcript	synonymous_variant	1067/2537	591/1692	197/563	T	acC/acG		1		1	NOSTRIN	HGNC	HGNC:20203	protein_coding	YES	CCDS54415.1	ENSP00000394051	Q8IVI9		UPI00001400FD				10/19		PROSITE_profiles:PS51741,hmmpanther:PTHR14167,Superfamily_domains:SSF103657																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	14	168843078	168843078	C	G	1	0	0	0	0	0	0	0	1	10591	581	21	4		4	NOSTRIN	2	168843078	Silent	SNP	C	C3L-00279_TP	1598298	168843078	73350451	101	6176											
FASTKD1	0	.	GRCh38	chr2	169540130	169540130	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctggaaaatattcaagTgtggccaaagagaaaccaag	16	9	9	7	0	3	1	1	0	2	1	3	3	3	2	2	2	1	0	2	2	7	3	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.1866A>G	p.=	p.T622T	ENST00000453153	10/15	91	79	12	33	33	0	strelka-varscan	FASTKD1,synonymous_variant,p.=,ENST00000453153,NM_024622.4;FASTKD1,synonymous_variant,p.=,ENST00000453929,NM_001281476.1;FASTKD1,upstream_gene_variant,,ENST00000495505,;FASTKD1,upstream_gene_variant,,ENST00000490590,;FASTKD1,upstream_gene_variant,,ENST00000488516,;	C	ENST00000453153	Transcript	synonymous_variant	2213/2967	1866/2544	622/847	T	acA/acG		1		-1	FASTKD1	HGNC	HGNC:26150	protein_coding	YES	CCDS33318.1	ENSP00000400513	Q53R41		UPI000050BC4D	NM_024622.4			10/15		hmmpanther:PTHR21228:SF29,hmmpanther:PTHR21228,Pfam_domain:PF06743																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	14	169540130	169540130	T	C	1	0	0	0	0	0	0	0	1	5545	1683	59	5		5	FASTKD1	2	169540130	Silent	SNP	T	C3L-00279_TP	697052	169540130	72653399	102	6177											
DCAF17	0	.	GRCh38	chr2	171468960	171468960	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaggccatccttggcactAcatcgtcacacctaataaga	12	9	8	12	1	1	1	1	0	0	1	3	2	2	2	3	3	1	1	3	3	3	4	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.911A>G	p.Tyr304Cys	p.Y304C	ENST00000375255	9/14	554	482	72	327	327	0	strelka-varscan	DCAF17,missense_variant,p.Tyr304Cys,ENST00000375255,NM_025000.3;DCAF17,missense_variant,p.Tyr304Cys,ENST00000539783,NM_001164821.1;DCAF17,missense_variant,p.Tyr24Cys,ENST00000611110,;DCAF17,missense_variant,p.Tyr55Cys,ENST00000339506,;DCAF17,upstream_gene_variant,,ENST00000431110,;DCAF17,non_coding_transcript_exon_variant,,ENST00000468592,;DCAF17,upstream_gene_variant,,ENST00000493106,;	G	ENST00000375255	Transcript	missense_variant	1238/5828	911/1563	304/520	Y/C	tAc/tGc		1		1	DCAF17	HGNC	HGNC:25784	protein_coding	YES	CCDS2243.2	ENSP00000364404	Q5H9S7		UPI00004C429A	NM_025000.3	deleterious(0.01)		9/14		hmmpanther:PTHR14815,Pfam_domain:PF15802																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	171468960	171468960	A	G	1	0	0	0	0	1	0	0	0	4070	391	14	5		5	DCAF17	2	171468960	Missense_Mutation	SNP	A	C3L-00279_TP	1928830	171468960	70724569	103	6178											
RAPGEF4	0	.	GRCh38	chr2	172988765	172988765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgatgccccacgagctGcctctatcgtcttacgagaa	10	10	9	12	3	2	3	0	2	2	1	3	5	2	3	3	0	4	1	3	0	4	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1300G>T	p.Ala434Ser	p.A434S	ENST00000397081	14/31	281	246	35	217	217	0	strelka-varscan	RAPGEF4,missense_variant,p.Ala434Ser,ENST00000397081,NM_007023.3;RAPGEF4,missense_variant,p.Ala290Ser,ENST00000397087,NM_001100397.1;RAPGEF4,missense_variant,p.Ala434Ser,ENST00000409036,;RAPGEF4,missense_variant,p.Ala281Ser,ENST00000540783,NM_001282899.1;RAPGEF4,missense_variant,p.Ala263Ser,ENST00000538974,NM_001282900.1;RAPGEF4,missense_variant,p.Ala214Ser,ENST00000535187,NM_001282901.1;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000473043,;RAPGEF4,downstream_gene_variant,,ENST00000459852,;	T	ENST00000397081	Transcript	missense_variant	1443/4299	1300/3036	434/1011	A/S	Gcc/Tcc		1		1	RAPGEF4	HGNC	HGNC:16626	protein_coding	YES	CCDS42775.1	ENSP00000380271	Q8WZA2		UPI000006D4C7	NM_007023.3	deleterious(0)		14/31		Gene3D:2.60.120.10,Pfam_domain:PF00027,Prints_domain:PR00103,PROSITE_profiles:PS50042,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF175,SMART_domains:SM00100,Superfamily_domains:SSF51206																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	172988765	172988765	G	T	1	0	0	0	0	1	0	0	0	13205	1319	46	2		2	RAPGEF4	2	172988765	Missense_Mutation	SNP	G	C3L-00279_TP	1519805	172988765	69204764	104	6179											
HOXD13	0	.	GRCh38	chr2	176093635	176093635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtactgcaccaaggaccagCcacaggggtcccacttttgg	9	8	11	13	0	0	0	0	0	0	0	1	1	1	1	4	4	3	2	4	4	2	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.745C>A	p.Pro249Thr	p.P249T	ENST00000392539	1/2	100	83	17	71	71	0	strelka-varscan	HOXD13,missense_variant,p.Pro249Thr,ENST00000392539,NM_000523.3;	A	ENST00000392539	Transcript	missense_variant	745/2240	745/1032	249/343	P/T	Cca/Aca		1		1	HOXD13	HGNC	HGNC:5136	protein_coding	YES	CCDS2264.2	ENSP00000376322	P35453		UPI000020912A	NM_000523.3	tolerated(1)		1/2		hmmpanther:PTHR24326:SF182,hmmpanther:PTHR24326																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	14	176093635	176093635	C	A	1	0	0	0	0	1	0	0	0	7216	739	26	2		2	HOXD13	2	176093635	Missense_Mutation	SNP	C	C3L-00279_TP	3104870	176093635	66099894	105	6180											
TTN	0	.	GRCh38	chr2	178593862	178593862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtcctactggtggtccagGacggtctgcagaaaaaaaaa	13	8	12	8	1	1	1	0	0	1	1	3	2	3	2	2	5	2	1	2	5	5	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.58438C>A	p.Pro19480Thr	p.P19480T	ENST00000589042	298/363	296	256	40	201	201	0	strelka-varscan	TTN,missense_variant,p.Pro19480Thr,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Pro17839Thr,ENST00000591111,;TTN,missense_variant,p.Pro17839Thr,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Pro16912Thr,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Pro10415Thr,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Pro10607Thr,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Pro10540Thr,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000629117,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000610290,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000626517,;TTN-AS1,downstream_gene_variant,,ENST00000590743,;TTN-AS1,upstream_gene_variant,,ENST00000589830,;	T	ENST00000589042	Transcript	missense_variant	58663/109224	58438/107976	19480/35991	P/T	Cct/Act		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			298/363		Low_complexity_(Seg):seg,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	14	178593862	178593862	G	T	1	0	0	0	0	1	0	0	0	17245	1188	41	2		2	TTN	2	178593862	Missense_Mutation	SNP	G	C3L-00279_TP	2500227	178593862	63599667	106	6181											
TTN	0	.	GRCh38	chr2	178605162	178605162	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgggtttttcaattacAgtttcatttttggaccattc	8	19	7	7	0	3	0	3	0	0	0	4	1	3	1	1	2	1	2	1	2	2	7	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.54015T>C	p.=	p.T18005T	ENST00000589042	280/363	217	189	28	142	142	0	strelka-varscan	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.4;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000610290,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000586452,;TTN-AS1,upstream_gene_variant,,ENST00000627527,;TTN-AS1,downstream_gene_variant,,ENST00000626517,;	G	ENST00000589042	Transcript	synonymous_variant	54240/109224	54015/107976	18005/35991	T	acT/acC		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			280/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW		SNV	5			1										PASS		.	.												G	2	3	14	178605162	178605162	A	G	1	0	0	0	0	0	0	0	1	17245	175	7	5		5	TTN	2	178605162	Silent	SNP	A	C3L-00279_TP	11300	178605162	63588367	107	6182											
TTN	0	.	GRCh38	chr2	178612080	178612080	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtattggtcttccaccatcAtttttaggtggctcccactt	6	17	7	11	0	2	0	1	0	1	0	4	0	4	0	3	3	0	2	3	3	2	7	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.50331T>A	p.Asn16777Lys	p.N16777K	ENST00000589042	267/363	232	202	30	219	218	1	strelka-varscan	TTN,missense_variant,p.Asn16777Lys,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Asn15136Lys,ENST00000591111,;TTN,missense_variant,p.Asn15136Lys,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Asn14209Lys,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Asn7712Lys,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Asn7904Lys,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Asn7837Lys,ENST00000359218,NM_133432.3;RP11-171I2.4,upstream_gene_variant,,ENST00000605334,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000627527,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000610290,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000589830,;	T	ENST00000589042	Transcript	missense_variant	50556/109224	50331/107976	16777/35991	N/K	aaT/aaA		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			267/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	178612080	178612080	A	T	1	0	0	0	0	1	0	0	0	17245	214	8	4		4	TTN	2	178612080	Missense_Mutation	SNP	A	C3L-00279_TP	6918	178612080	63581449	108	6183											
TTN	0	.	GRCh38	chr2	178684347	178684347	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcttgcttttggaggcGcctcttttttagttacagca	6	17	8	10	1	2	0	0	0	2	0	2	1	2	1	2	2	4	3	2	2	3	8	rs778076110		C3L-00279_TP	C3L-00279_NB	G	G																c.32705C>G	p.Ala10902Gly	p.A10902G	ENST00000589042	132/363	183	165	18	86	86	0	strelka-varscan	TTN,missense_variant,p.Ala10902Gly,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Ala10585Gly,ENST00000591111,;TTN,missense_variant,p.Ala10585Gly,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Ala9658Gly,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;	C	ENST00000589042	Transcript	missense_variant	32930/109224	32705/107976	10902/35991	A/G	gCg/gGg	rs778076110,COSM4088702,COSM4088703	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			132/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10										not_provided	0,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												C	3	2	14	178684347	178684347	G	C	1	0	0	0	0	1	0	0	0	17245	1087	38	4		4	TTN	2	178684347	Missense_Mutation	SNP	G	C3L-00279_TP	72267	178684347	63509182	109	6184											
FSIP2	0	.	GRCh38	chr2	185789530	185789530	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgatgaacttctcacAtcatctaatggaaaaccttt	13	12	6	10	0	3	2	2	2	2	0	4	3	3	3	2	1	2	0	2	1	4	3	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.2661A>G	p.=	p.T887T	ENST00000343098	16/23	220	186	34	61	61	0	strelka-varscan	FSIP2,synonymous_variant,p.=,ENST00000343098,NM_173651.2;FSIP2,synonymous_variant,p.=,ENST00000424728,;FSIP2-AS1,intron_variant,,ENST00000436557,;FSIP2-AS1,intron_variant,,ENST00000429929,;	G	ENST00000343098	Transcript	synonymous_variant	2661/21054	2661/20991	887/6996	T	acA/acG		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2			16/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	LOW		SNV	5			1										PASS		.	.												G	2	3	14	185789530	185789530	A	G	1	0	0	0	0	0	0	0	1	5949	204	8	5		5	FSIP2	2	185789530	Silent	SNP	A	C3L-00279_TP	7105183	185789530	56403999	110	6185											
COL3A1	0	.	GRCh38	chr2	188997219	188997219	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggaggacctggccctcagGtacgtagctttcctcaattt	7	12	10	12	1	2	0	2	0	0	0	3	2	3	2	3	4	2	3	3	4	3	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1815+1G>C		p.X605_splice	ENST00000304636		575	517	58	460	460	0	strelka-varscan	COL3A1,splice_donor_variant,,ENST00000304636,NM_000090.3;COL3A1,splice_donor_variant,,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000450867,;COL3A1,downstream_gene_variant,,ENST00000637672,;	C	ENST00000304636	Transcript	splice_donor_variant	-/5543	1815/4401	605/1466				1		1	COL3A1	HGNC	HGNC:2201	protein_coding	YES	CCDS2297.1	ENSP00000304408	P02461		UPI0000456EBA	NM_000090.3				25/50																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	14	188997219	188997219	G	C	1	0	0	0	0	0	0	1	0	3477	1275	44	4		4	COL3A1	2	188997219	Splice_Site	SNP	G	C3L-00279_TP	3207689	188997219	53196310	111	6186											
COL3A1	0	.	GRCh38	chr2	188999333	188999333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacctcctggattggcagggGccccaggacttagaggtgga	8	7	16	10	0	0	1	0	0	0	1	1	5	1	4	4	7	0	1	4	7	1	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2071G>T	p.Ala691Ser	p.A691S	ENST00000304636	30/51	533	468	65	452	452	0	strelka-varscan	COL3A1,missense_variant,p.Ala691Ser,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Ala691Ser,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000637672,;COL3A1,upstream_gene_variant,,ENST00000467886,;	T	ENST00000304636	Transcript	missense_variant	2241/5543	2071/4401	691/1466	A/S	Gcc/Tcc		1		1	COL3A1	HGNC	HGNC:2201	protein_coding	YES	CCDS2297.1	ENSP00000304408	P02461		UPI0000456EBA	NM_000090.3	tolerated(0.54)		30/51		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	188999333	188999333	G	T	1	0	0	0	0	1	0	0	0	3477	1203	42	2		2	COL3A1	2	188999333	Missense_Mutation	SNP	G	C3L-00279_TP	2114	188999333	53194196	112	6187											
PLCL1	0	.	GRCh38	chr2	198089029	198089029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggtgcaattccagatGtgcagaaaaagatgctgact	12	10	11	8	0	1	4	0	1	1	3	2	4	2	4	1	1	3	3	1	1	3	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2887G>T	p.Val963Leu	p.V963L	ENST00000428675	3/6	375	334	41	335	335	0	strelka-varscan	PLCL1,missense_variant,p.Val886Leu,ENST00000437704,;PLCL1,missense_variant,p.Val963Leu,ENST00000428675,NM_006226.3;PLCL1,missense_variant,p.Val889Leu,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	T	ENST00000428675	Transcript	missense_variant	3285/5125	2887/3288	963/1095	V/L	Gtg/Ttg		1		1	PLCL1	HGNC	HGNC:9063	protein_coding	YES	CCDS2326.2	ENSP00000402861	Q15111		UPI000165BCF5	NM_006226.3	tolerated(0.47)		3/6		hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF102																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	198089029	198089029	G	T	1	0	0	0	0	1	0	0	0	12133	1377	48	2		2	PLCL1	2	198089029	Missense_Mutation	SNP	G	C3L-00279_TP	9089696	198089029	44104500	113	6188											
MAP2	0	.	GRCh38	chr2	209730211	209730211	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaagttgaacttcagagaGcatgctaaagcccgtgtgga	14	8	11	8	1	1	2	1	1	0	1	1	4	1	3	1	1	4	3	1	1	5	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.5298G>C	p.Glu1766Asp	p.E1766D	ENST00000360351	15/15	263	220	43	262	262	0	strelka-varscan	MAP2,missense_variant,p.Glu1766Asp,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Glu1762Asp,ENST00000447185,;MAP2,missense_variant,p.Glu410Asp,ENST00000392194,NM_031845.2;MAP2,missense_variant,p.Glu498Asp,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,missense_variant,p.Glu410Asp,ENST00000361559,;MAP2,downstream_gene_variant,,ENST00000475600,;	C	ENST00000360351	Transcript	missense_variant	5804/9711	5298/5484	1766/1827	E/D	gaG/gaC		1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3	tolerated(0.12)		15/15		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	14	209730211	209730211	G	C	1	0	0	0	0	1	0	0	0	9157	962	34	4		4	MAP2	2	209730211	Missense_Mutation	SNP	G	C3L-00279_TP	11641182	209730211	32463318	114	6189											
UNC80	0	.	GRCh38	chr2	209973234	209973234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagacttgcgcagggaaGggctggctgagtccaccagc	10	5	16	10	1	0	2	0	1	0	1	1	4	1	4	2	4	2	3	2	4	2	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.8353G>T	p.Gly2785Trp	p.G2785W	ENST00000439458	55/64	195	170	25	168	168	0	strelka-varscan	UNC80,missense_variant,p.Gly2785Trp,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Gly2780Trp,ENST00000272845,NM_182587.3;UNC80,missense_variant,p.Gly311Trp,ENST00000333907,;UNC80,non_coding_transcript_exon_variant,,ENST00000477924,;UNC80,downstream_gene_variant,,ENST00000489023,;	T	ENST00000439458	Transcript	missense_variant	8433/13562	8353/9777	2785/3258	G/W	Ggg/Tgg		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1	deleterious(0)		55/64		hmmpanther:PTHR31781:SF1,hmmpanther:PTHR31781																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	209973234	209973234	G	T	1	0	0	0	0	1	0	0	0	17521	1000	35	2		2	UNC80	2	209973234	Missense_Mutation	SNP	G	C3L-00279_TP	243023	209973234	32220295	115	6190											
SPEG	0	.	GRCh38	chr2	219435268	219435268	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcctgtggctgcggcgCtgcggggcgcaggacgccgg	3	5	20	13	6	0	0	0	0	0	0	0	1	0	1	2	6	4	4	2	6	0	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.291C>A	p.=	p.R97R	ENST00000312358	1/41	138	113	25	148	148	0	strelka-varscan	SPEG,synonymous_variant,p.=,ENST00000312358,NM_005876.4;SPEG,upstream_gene_variant,,ENST00000498378,;	A	ENST00000312358	Transcript	synonymous_variant	423/10782	291/9804	97/3267	R	cgC/cgA		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4			1/41		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF728,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	14	219435268	219435268	C	A	1	0	0	0	0	0	0	0	1	15387	784	28	2		2	SPEG	2	219435268	Silent	SNP	C	C3L-00279_TP	9462034	219435268	22758261	116	6191											
SPEG	0	.	GRCh38	chr2	219483160	219483160	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccccgagctgctgcgggcCcccccagagcgggtgtgggt	4	6	16	15	3	0	1	0	0	0	1	1	2	1	1	5	3	4	2	5	3	0	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.5697C>T	p.=	p.A1899A	ENST00000312358	30/41	250	200	50	218	218	0	strelka-varscan	SPEG,synonymous_variant,p.=,ENST00000312358,NM_005876.4;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	T	ENST00000312358	Transcript	synonymous_variant	5829/10782	5697/9804	1899/3267	A	gcC/gcT		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4			30/41		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF728																	LOW		SNV	5			1										PASS		.	.												T	2	4	14	219483160	219483160	C	T	1	0	0	0	0	0	0	0	1	15387	610	22	3		3	SPEG	2	219483160	Silent	SNP	C	C3L-00279_TP	47892	219483160	22710369	117	6192											
COL4A4	0	.	GRCh38	chr2	227059469	227059469	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggcactcctgaaagaccCctctttcccgggggtcccag	6	8	10	17	1	1	2	0	1	1	1	4	2	4	2	6	3	0	1	6	3	1	1	rs200920187		C3L-00279_TP	C3L-00279_NB	C	C																c.2319G>T	p.Arg773Ser	p.R773S	ENST00000396625	28/48	569	502	67	506	506	0	strelka-varscan-mutect	COL4A4,missense_variant,p.Arg773Ser,ENST00000396625,NM_000092.4;	A	ENST00000396625	Transcript	missense_variant	2527/9895	2319/5073	773/1690	R/S	agG/agT	rs200920187	1		-1	COL4A4	HGNC	HGNC:2206	protein_coding	YES	CCDS42828.1	ENSP00000379866	P53420		UPI000013D987	NM_000092.4	tolerated(0.07)		28/48		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF533																	MODERATE	1	SNV	5			1										PASS		rs200920187	.												A	3	1	14	227059469	227059469	C	A	1	0	0	0	0	1	0	0	0	3482	622	22	2		2	COL4A4	2	227059469	Missense_Mutation	SNP	C	C3L-00279_TP	7576309	227059469	15134060	118	6193											
COL6A3	0	.	GRCh38	chr2	237387884	237387884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacgcggctgccccctGcccgggtgaagtggttctcc	3	8	12	18	3	1	1	0	1	1	0	3	1	2	1	6	3	2	2	6	3	1	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1010C>T	p.Ala337Val	p.A337V	ENST00000295550	4/44	295	259	36	217	217	0	strelka-varscan-mutect	COL6A3,missense_variant,p.Ala337Val,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Ala131Val,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Ala131Val,ENST00000409809,;COL6A3,missense_variant,p.Ala131Val,ENST00000392004,NM_057165.4;COL6A3,missense_variant,p.Ala337Val,ENST00000433762,;COL6A3,missense_variant,p.Ala65Val,ENST00000491233,;COL6A3,intron_variant,,ENST00000472056,NM_057166.4;COL6A3,intron_variant,,ENST00000347401,;COL6A3,intron_variant,,ENST00000392003,NM_057164.4;	A	ENST00000295550	Transcript	missense_variant	1463/10749	1010/9534	337/3177	A/V	gCa/gTa		1		-1	COL6A3	HGNC	HGNC:2213	protein_coding	YES	CCDS33412.1	ENSP00000295550	P12111	D9ZGF2	UPI0000456F39	NM_004369.3	tolerated(0.05)		4/44		PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	237387884	237387884	G	A	1	0	0	0	0	1	0	0	0	3490	1319	46	3		3	COL6A3	2	237387884	Missense_Mutation	SNP	G	C3L-00279_TP	10328415	237387884	4805645	119	6194											
NDUFA10	0	.	GRCh38	chr2	240018536	240018536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacacacccagaagtgggtCtgcaatgctgactcacactg	11	7	9	14	0	2	2	1	1	1	1	2	2	2	2	2	1	2	2	2	1	2	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.564G>T	p.Gln188His	p.Q188H	ENST00000307300	4/11	562	505	57	456	455	1	strelka-varscan-mutect	NDUFA10,missense_variant,p.Gln188His,ENST00000307300,;NDUFA10,missense_variant,p.Gln188His,ENST00000407129,;NDUFA10,intron_variant,,ENST00000252711,NM_004544.3;NDUFA10,intron_variant,,ENST00000404554,;NDUFA10,intron_variant,,ENST00000620965,;NDUFA10,intron_variant,,ENST00000443626,;NDUFA10,intron_variant,,ENST00000485344,;NDUFA10,intron_variant,,ENST00000414580,;NDUFA10,downstream_gene_variant,,ENST00000497536,;	A	ENST00000307300	Transcript	missense_variant	587/1313	564/1290	188/429	Q/H	caG/caT		1		-1	NDUFA10	HGNC	HGNC:7684	protein_coding			ENSP00000302321	O95299		UPI000006FC2B		deleterious_low_confidence(0.01)		4/11		Gene3D:3.40.50.300																	MODERATE		SNV	1			1										PASS		.	.												A	3	1	14	240018536	240018536	C	A	1	0	0	0	0	1	0	0	0	10281	912	32	2		2	NDUFA10	2	240018536	Missense_Mutation	SNP	C	C3L-00279_TP	2630652	240018536	2174993	120	6195											
KIF1A	0	.	GRCh38	chr2	240757454	240757454	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcctcctcctcctccTcccccacgctctgctcctcg	1	11	3	26	2	1	0	0	0	1	0	10	0	9	0	10	0	1	2	10	0	0	0	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.2723A>G	p.Glu908Gly	p.E908G	ENST00000498729	27/49	173	163	10	174	173	1	varscan-mutect	KIF1A,missense_variant,p.Glu908Gly,ENST00000498729,NM_001244008.1;KIF1A,missense_variant,p.Glu908Gly,ENST00000404283,;KIF1A,intron_variant,,ENST00000320389,NM_004321.6;	C	ENST00000498729	Transcript	missense_variant	2970/9223	2723/5376	908/1791	E/G	gAg/gGg		1		-1	KIF1A	HGNC	HGNC:888	protein_coding	YES	CCDS58757.1	ENSP00000438388	Q12756		UPI0002065B81	NM_001244008.1	tolerated(0.12)		27/49		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF361,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1226186849	.												C	3	2	14	240757454	240757454	T	C	1	0	0	0	0	1	0	0	0	8147	1551	54	5		5	KIF1A	2	240757454	Missense_Mutation	SNP	T	C3L-00279_TP	738918	240757454	1436075	121	6196											
AGXT	0	.	GRCh38	chr2	240870653	240870653	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacccaggagcccgagTgcacccgatgaccaaggacc	10	3	11	17	2	0	1	0	1	0	0	0	5	0	3	6	2	3	2	6	2	1	0	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.368T>A	p.Val123Glu	p.V123E	ENST00000307503	3/11	276	238	38	268	268	0	strelka-varscan-mutect	AGXT,missense_variant,p.Val123Glu,ENST00000307503,NM_000030.2;AGXT,non_coding_transcript_exon_variant,,ENST00000472436,;AGXT,upstream_gene_variant,,ENST00000476698,;	A	ENST00000307503	Transcript	missense_variant	755/1865	368/1179	123/392	V/E	gTg/gAg		1		1	AGXT	HGNC	HGNC:341	protein_coding	YES	CCDS2543.1	ENSP00000302620	P21549		UPI0000135E9B	NM_000030.2	deleterious(0)		3/11		Gene3D:3.40.640.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF000524,hmmpanther:PTHR21152,hmmpanther:PTHR21152:SF22,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		rs1311612079	.												A	3	1	14	240870653	240870653	T	A	1	0	0	0	0	1	0	0	0	483	1696	59	4		4	AGXT	2	240870653	Missense_Mutation	SNP	T	C3L-00279_TP	113199	240870653	1322876	122	6197											
ATG4B	0	.	GRCh38	chr2	241654549	241654549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattttttttccaatagattGgaggtggacacaaaggaaga	15	12	10	4	0	0	2	0	0	0	2	1	5	1	5	1	4	0	0	1	4	5	6	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.287G>T	p.Trp96Leu	p.W96L	ENST00000404914	5/13	209	181	28	183	183	0	strelka-mutect	ATG4B,missense_variant,p.Trp96Leu,ENST00000405546,NM_178326.2;ATG4B,missense_variant,p.Trp96Leu,ENST00000404914,NM_013325.4;ATG4B,missense_variant,p.Trp22Leu,ENST00000402096,;ATG4B,missense_variant,p.Trp96Leu,ENST00000425239,;ATG4B,missense_variant,p.Trp96Leu,ENST00000400771,;ATG4B,missense_variant,p.Trp22Leu,ENST00000430617,;ATG4B,missense_variant,p.Trp22Leu,ENST00000419606,;ATG4B,missense_variant,p.Trp22Leu,ENST00000429899,;ATG4B,downstream_gene_variant,,ENST00000625810,;ATG4B,downstream_gene_variant,,ENST00000491867,;ATG4B,3_prime_UTR_variant,,ENST00000344376,;ATG4B,3_prime_UTR_variant,,ENST00000400772,;ATG4B,non_coding_transcript_exon_variant,,ENST00000482507,;ATG4B,non_coding_transcript_exon_variant,,ENST00000494465,;ATG4B,non_coding_transcript_exon_variant,,ENST00000483778,;ATG4B,non_coding_transcript_exon_variant,,ENST00000493618,;ATG4B,non_coding_transcript_exon_variant,,ENST00000475195,;ATG4B,non_coding_transcript_exon_variant,,ENST00000468018,;ATG4B,non_coding_transcript_exon_variant,,ENST00000465399,;ATG4B,non_coding_transcript_exon_variant,,ENST00000479554,;ATG4B,downstream_gene_variant,,ENST00000415107,;	T	ENST00000404914	Transcript	missense_variant	390/2878	287/1182	96/393	W/L	tGg/tTg		1		1	ATG4B	HGNC	HGNC:20790	protein_coding	YES	CCDS46564.1	ENSP00000384259	Q9Y4P1		UPI00001AF16F	NM_013325.4	deleterious(0)		5/13		Pfam_domain:PF03416,hmmpanther:PTHR22624,hmmpanther:PTHR22624:SF39,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	241654549	241654549	G	T	1	0	0	0	0	1	0	0	0	1249	1362	47	2		2	ATG4B	2	241654549	Missense_Mutation	SNP	G	C3L-00279_TP	783896	241654549	538980	123	6198											
PDCD1	0	.	GRCh38	chr2	241851213	241851213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcagggacacagggcacggGgggctccggggtcttctctc	5	7	16	13	2	3	0	1	0	2	0	6	1	4	1	1	7	0	2	1	7	0	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.712C>A	p.Pro238Thr	p.P238T	ENST00000334409	5/5	190	167	23	172	171	1	strelka-varscan-mutect	PDCD1,missense_variant,p.Pro238Thr,ENST00000334409,NM_005018.2;PDCD1,downstream_gene_variant,,ENST00000343705,;PDCD1,3_prime_UTR_variant,,ENST00000418831,;	T	ENST00000334409	Transcript	missense_variant	782/2114	712/867	238/288	P/T	Ccc/Acc		1		-1	PDCD1	HGNC	HGNC:8760	protein_coding	YES	CCDS33428.1	ENSP00000335062	Q15116	A0A0M3M0G7	UPI0000061E11	NM_005018.2	deleterious(0.01)		5/5		hmmpanther:PTHR15264																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	241851213	241851213	G	T	1	0	0	0	0	1	0	0	0	11703	1232	43	2		2	PDCD1	2	241851213	Missense_Mutation	SNP	G	C3L-00279_TP	196664	241851213	342316	124	6199											
SYN2	0	.	GRCh38	chr3	12145783	12145783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgcagtatgcaggcctccCcagcatcaactcactggaat	11	9	8	13	0	2	0	2	0	0	0	3	1	3	1	3	2	4	4	3	2	4	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.632C>A	p.Pro211His	p.P211H	ENST00000621198	4/13	198	165	33	206	206	0	strelka-varscan-mutect	SYN2,missense_variant,p.Pro211His,ENST00000620175,NM_003178.5;SYN2,missense_variant,p.Pro211His,ENST00000621198,NM_133625.4;SYN2,non_coding_transcript_exon_variant,,ENST00000424884,;SYN2,upstream_gene_variant,,ENST00000439861,;	A	ENST00000621198	Transcript	missense_variant	782/2674	632/1749	211/582	P/H	cCc/cAc		1		1	SYN2	HGNC	HGNC:11495	protein_coding	YES	CCDS74900.1	ENSP00000480050		A0A087WW96	UPI0000167B8A	NM_133625.4	deleterious(0.02)		4/13		hmmpanther:PTHR10841:SF20,hmmpanther:PTHR10841,Pfam_domain:PF02078,Gene3D:3.40.50.20,Superfamily_domains:SSF52440																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	12145783	12145783	C	A	1	0	0	0	0	1	0	0	0	15831	623	22	2		2	SYN2	3	12145783	Missense_Mutation	SNP	C	C3L-00279_TP		12145783	186149776	125	6200											
C3orf20	0	.	GRCh38	chr3	14727021	14727021	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaattctatcttgctggccGcaggtaaggaggctgaaagg	10	11	13	7	1	2	1	0	1	2	0	2	2	2	2	1	5	1	4	1	5	4	5	rs572485123		C3L-00279_TP	C3L-00279_NB	G	G																c.1687G>C	p.Ala563Pro	p.A563P	ENST00000253697	11/17	127	106	21	141	141	0	strelka-varscan-mutect	C3orf20,missense_variant,p.Ala563Pro,ENST00000253697,NM_032137.4;C3orf20,missense_variant,p.Ala441Pro,ENST00000435614,NM_001184958.1;C3orf20,missense_variant,p.Ala441Pro,ENST00000412910,NM_001184957.1;C3orf20,downstream_gene_variant,,ENST00000495387,;	C	ENST00000253697	Transcript	missense_variant	2139/3326	1687/2715	563/904	A/P	Gca/Cca	rs572485123,COSM1039643	1		1	C3orf20	HGNC	HGNC:25320	protein_coding	YES	CCDS33706.1	ENSP00000253697	Q8ND61		UPI000013CDE9	NM_032137.4	deleterious(0.04)		11/17		hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF16,Pfam_domain:PF14977											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs572485123	.												C	3	2	14	14727021	14727021	G	C	1	0	0	0	0	1	0	0	0	2061	1101	38	4		4	C3orf20	3	14727021	Missense_Mutation	SNP	G	C3L-00279_TP	2581238	14727021	183568538	126	6201											
TGFBR2	0	.	GRCh38	chr3	30672111	30672111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatactccagttcctgacgGctgaggagcggaagacggag	11	6	14	10	3	0	3	0	2	0	1	2	6	2	6	2	4	2	2	2	4	2	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1003G>T	p.Ala335Ser	p.A335S	ENST00000359013	5/8	362	307	55	371	371	0	strelka-varscan-mutect	TGFBR2,missense_variant,p.Ala310Ser,ENST00000295754,NM_003242.5;TGFBR2,missense_variant,p.Ala335Ser,ENST00000359013,NM_001024847.2;	T	ENST00000359013	Transcript	missense_variant	1286/4605	1003/1779	335/592	A/S	Gct/Tct		1		1	TGFBR2	HGNC	HGNC:11773	protein_coding	YES	CCDS33727.1	ENSP00000351905	P37173	D2JYI1	UPI000053030E	NM_001024847.2	deleterious(0.03)		5/8		PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF55,Gene3D:3.30.200.20,PIRSF_domain:PIRSF037393,Pfam_domain:PF07714,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	30672111	30672111	G	T	1	0	0	0	0	1	0	0	0	16255	1203	42	2		2	TGFBR2	3	30672111	Missense_Mutation	SNP	G	C3L-00279_TP	15945090	30672111	167623448	127	6202											
SCN10A	0	.	GRCh38	chr3	38728714	38728714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcggggccagtcttcatggGgcgcggagatattttttcgg	6	11	16	8	4	2	1	1	0	1	1	3	2	2	1	1	6	1	0	1	6	1	5	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2468C>A	p.Pro823His	p.P823H	ENST00000449082	15/27	188	164	24	157	157	0	strelka-varscan-mutect	SCN10A,missense_variant,p.Pro823His,ENST00000449082,NM_001293306.2,NM_006514.3,NM_001293307.2;	T	ENST00000449082	Transcript	missense_variant	2468/6418	2468/5871	823/1956	P/H	cCc/cAc		1		-1	SCN10A	HGNC	HGNC:10582	protein_coding	YES	CCDS33736.1	ENSP00000390600	Q9Y5Y9		UPI0000209BDA	NM_001293306.2,NM_006514.3,NM_001293307.2	deleterious(0.04)		15/27		hmmpanther:PTHR10037:SF208,hmmpanther:PTHR10037,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	38728714	38728714	G	T	1	0	0	0	0	1	0	0	0	14181	1232	43	2		2	SCN10A	3	38728714	Missense_Mutation	SNP	G	C3L-00279_TP	8056603	38728714	159566845	128	6203											
TTC21A	0	.	GRCh38	chr3	39126347	39126347	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaagcagcaccagctctGatcgaccccctgtatttgat	10	10	8	13	1	2	2	1	2	1	0	3	3	2	2	3	0	3	4	3	0	2	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1503G>T	p.=	p.L501L	ENST00000431162	12/29	266	240	26	246	246	0	strelka-varscan-mutect	TTC21A,synonymous_variant,p.=,ENST00000431162,NM_145755.2;TTC21A,synonymous_variant,p.=,ENST00000440121,NM_001105513.2;TTC21A,upstream_gene_variant,,ENST00000466875,;TTC21A,upstream_gene_variant,,ENST00000471025,;TTC21A,synonymous_variant,p.=,ENST00000430597,;TTC21A,upstream_gene_variant,,ENST00000473587,;	T	ENST00000431162	Transcript	synonymous_variant	1637/4209	1503/3963	501/1320	L	ctG/ctT		1		1	TTC21A	HGNC	HGNC:30761	protein_coding	YES	CCDS46800.1	ENSP00000398211	Q8NDW8		UPI00015D46B9	NM_145755.2			12/29		hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF2,Gene3D:1.25.40.10,Superfamily_domains:SSF48452																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	39126347	39126347	G	T	1	0	0	0	0	0	0	0	1	17195	1277	45	2		2	TTC21A	3	39126347	Silent	SNP	G	C3L-00279_TP	397633	39126347	159169212	129	6204											
ZNF197	0	.	GRCh38	chr3	44642862	44642862	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggaaaagttttcattcgaAgcaaaagcctcctcttacat	13	12	7	9	1	2	0	1	0	1	0	4	2	3	1	2	1	3	2	2	1	6	4	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.1732A>T	p.Ser578Cys	p.S578C	ENST00000396058	5/5	245	205	40	108	108	0	strelka-varscan-mutect	ZNF197,missense_variant,p.Ser578Cys,ENST00000396058,;ZNF197,missense_variant,p.Ser578Cys,ENST00000344387,NM_006991.3;ZNF197,intron_variant,,ENST00000383745,NM_001024855.1;ZNF197,intron_variant,,ENST00000383744,;RP11-944L7.4,intron_variant,,ENST00000457331,;ZNF197,intron_variant,,ENST00000334075,;	T	ENST00000396058	Transcript	missense_variant	1899/4299	1732/3090	578/1029	S/C	Agc/Tgc		1		1	ZNF197	HGNC	HGNC:12988	protein_coding	YES	CCDS2717.1	ENSP00000379370	O14709		UPI000013C317		deleterious(0.03)		5/5		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	44642862	44642862	A	T	1	0	0	0	0	1	0	0	0	18336	72	3	4		4	ZNF197	3	44642862	Missense_Mutation	SNP	A	C3L-00279_TP	5516515	44642862	153652697	130	6205											
DNAH12	0	.	GRCh38	chr3	57408448	57408448	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatacaacggggagtaacTggatttcttccaccacctgg	11	9	10	11	2	1	0	0	0	1	0	2	3	2	2	3	4	3	1	3	4	4	4	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.6108A>T	p.=	p.P2036P	ENST00000495027	40/74	128	113	15	102	102	0	strelka-varscan-mutect	DNAH12,synonymous_variant,p.=,ENST00000495027,NM_001291661.1;DNAH12,synonymous_variant,p.=,ENST00000351747,;	A	ENST00000495027	Transcript	synonymous_variant	6289/12146	6108/11883	2036/3960	P	ccA/ccT		1		-1	DNAH12	HGNC	HGNC:2943	protein_coding			ENSP00000418137		E9PG32	UPI0004620994	NM_001291661.1			40/74		Gene3D:3.40.50.300,Pfam_domain:PF12775,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF255,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	14	57408448	57408448	T	A	1	0	0	0	0	0	0	0	1	4414	1567	55	4		4	DNAH12	3	57408448	Silent	SNP	T	C3L-00279_TP	12765586	57408448	140887111	131	6206											
C3orf67	0	.	GRCh38	chr3	58870287	58870287	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgttccgtgtaatactTgttcctctgttaatgaactg	8	18	7	8	1	1	1	0	1	1	0	3	1	3	1	2	0	3	4	2	0	5	7	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.363A>T	p.=	p.T121T	ENST00000295966	8/16	133	109	24	78	78	0	strelka-varscan-mutect	C3orf67,synonymous_variant,p.=,ENST00000472469,;C3orf67,synonymous_variant,p.=,ENST00000295966,NM_198463.2;C3orf67,synonymous_variant,p.=,ENST00000482387,;C3orf67-AS1,intron_variant,,ENST00000482372,;C3orf67-AS1,intron_variant,,ENST00000493123,;C3orf67-AS1,intron_variant,,ENST00000492031,;C3orf67-AS1,intron_variant,,ENST00000463703,;C3orf67,3_prime_UTR_variant,,ENST00000468415,;	A	ENST00000295966	Transcript	synonymous_variant	867/2650	363/1692	121/563	T	acA/acT		1		-1	C3orf67	HGNC	HGNC:24763	protein_coding	YES	CCDS33776.1	ENSP00000295966	Q6ZVT6		UPI00001C098C	NM_198463.2			8/16		hmmpanther:PTHR12458																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	14	58870287	58870287	T	A	1	0	0	0	0	0	0	0	1	2071	1799	63	4		4	C3orf67	3	58870287	Silent	SNP	T	C3L-00279_TP	1461839	58870287	139425272	132	6207											
CADPS	0	.	GRCh38	chr3	62550086	62550086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtctccctccttgacagCattgaagaaggctcggccac	8	9	11	13	1	1	3	0	2	1	1	4	3	2	3	3	3	1	2	3	3	2	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1783G>T	p.Ala595Ser	p.A595S	ENST00000383710	11/30	231	196	35	232	232	0	strelka-varscan-mutect	CADPS,missense_variant,p.Ala595Ser,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Ala595Ser,ENST00000612439,;CADPS,missense_variant,p.Ala595Ser,ENST00000357948,NM_183393.2;CADPS,missense_variant,p.Ala595Ser,ENST00000283269,NM_183394.2;CADPS,missense_variant,p.Ala90Ser,ENST00000542833,;CADPS,non_coding_transcript_exon_variant,,ENST00000478434,;CADPS,non_coding_transcript_exon_variant,,ENST00000490424,;	A	ENST00000383710	Transcript	missense_variant	2133/5471	1783/4062	595/1353	A/S	Gct/Tct		1		-1	CADPS	HGNC	HGNC:1426	protein_coding	YES	CCDS46858.1	ENSP00000373215	Q9ULU8		UPI00001C036A	NM_003716.3	deleterious(0.02)		11/30		PROSITE_profiles:PS50003,hmmpanther:PTHR12166:SF6,hmmpanther:PTHR12166,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	62550086	62550086	C	A	1	0	0	0	0	1	0	0	0	2260	710	25	2		2	CADPS	3	62550086	Missense_Mutation	SNP	C	C3L-00279_TP	3679799	62550086	135745473	133	6208											
CADM2	0	.	GRCh38	chr3	85912449	85912449	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acactggacttccgagtggaCcggagtgatgatggagtggc	9	8	16	8	2	0	2	0	2	0	0	1	7	1	6	2	5	0	0	2	5	0	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.585C>T	p.=	p.D195D	ENST00000405615	5/10	280	249	31	310	310	0	strelka-varscan-mutect	CADM2,synonymous_variant,p.=,ENST00000383699,NM_001256504.1,NM_001256505.1,NM_001167675.1;CADM2,synonymous_variant,p.=,ENST00000407528,NM_001167674.1;CADM2,synonymous_variant,p.=,ENST00000405615,NM_153184.3;	T	ENST00000405615	Transcript	synonymous_variant	585/1314	585/1314	195/437	D	gaC/gaT		1		1	CADM2	HGNC	HGNC:29849	protein_coding	YES	CCDS33792.1	ENSP00000384193	Q8N3J6		UPI000013F077	NM_153184.3			5/10		PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,Gene3D:2.60.40.10,Pfam_domain:PF08205,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	85912449	85912449	C	T	1	0	0	0	0	0	0	0	1	2257	506	18	3		3	CADM2	3	85912449	Silent	SNP	C	C3L-00279_TP	23362363	85912449	112383110	134	6209											
EPHA3	0	.	GRCh38	chr3	89209964	89209964	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aattggctgagaacaaactgGgtccccaggaactcagctca	13	7	10	11	0	2	1	2	1	0	1	3	3	3	2	2	3	4	2	2	3	4	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.258G>C	p.Trp86Cys	p.W86C	ENST00000336596	3/17	196	172	24	159	159	0	strelka-varscan-mutect	EPHA3,missense_variant,p.Trp86Cys,ENST00000336596,NM_005233.5;EPHA3,missense_variant,p.Trp86Cys,ENST00000494014,;EPHA3,missense_variant,p.Trp86Cys,ENST00000452448,NM_182644.2;	C	ENST00000336596	Transcript	missense_variant	483/5809	258/2952	86/983	W/C	tgG/tgC		1		1	EPHA3	HGNC	HGNC:3387	protein_coding	YES	CCDS2922.1	ENSP00000337451	P29320	A0A140VJJ0	UPI0000163BE4	NM_005233.5	deleterious(0.01)		3/17		PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666,Pfam_domain:PF01404,Gene3D:2.60.120.260,SMART_domains:SM00615,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	14	89209964	89209964	G	C	1	0	0	0	0	1	0	0	0	5015	1241	43	4		4	EPHA3	3	89209964	Missense_Mutation	SNP	G	C3L-00279_TP	3297515	89209964	109085595	135	6210											
EPHA6	0	.	GRCh38	chr3	97475375	97475375	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacatggcagcagaacaaGgacagattctcgtgatagcc	13	7	11	10	1	1	4	0	2	1	2	2	5	1	5	1	2	3	2	1	2	3	2	rs747807400		C3L-00279_TP	C3L-00279_NB	G	G																c.1918G>T	p.Gly640Ter	p.G640*	ENST00000389672	8/18	217	195	22	200	199	1	strelka-varscan-mutect	EPHA6,stop_gained,p.Gly640Ter,ENST00000389672,NM_001080448.2;EPHA6,stop_gained,p.Gly32Ter,ENST00000514100,NM_001278300.1;EPHA6,stop_gained,p.Gly32Ter,ENST00000502694,NM_173655.3;EPHA6,stop_gained,p.Gly6Ter,ENST00000477384,;EPHA6,stop_gained,p.Gly32Ter,ENST00000503760,;EPHA6,stop_gained,p.Gly6Ter,ENST00000508345,;	T	ENST00000389672	Transcript	stop_gained	1956/3971	1918/3393	640/1130	G/*	Gga/Tga	rs747807400	1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2			8/18		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364																	HIGH	1	SNV	2			1										PASS		rs747807400	.												T	4	4	14	97475375	97475375	G	T	1	0	0	0	0	0	1	0	0	5018	1001	35	2		2	EPHA6	3	97475375	Nonsense_Mutation	SNP	G	C3L-00279_TP	8265411	97475375	100820184	136	6211											
EPHA6	0	.	GRCh38	chr3	97747550	97747550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtttacaacatttgacCtgatttcaagaatgagcatt	13	13	8	7	0	1	4	1	3	0	1	1	4	1	4	1	1	3	2	1	1	4	5	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.3256C>A	p.Leu1086Met	p.L1086M	ENST00000389672	17/18	125	97	28	55	55	0	strelka-varscan-mutect	EPHA6,missense_variant,p.Leu1086Met,ENST00000389672,NM_001080448.2;EPHA6,missense_variant,p.Leu11Met,ENST00000506349,;EPHA6,downstream_gene_variant,,ENST00000477384,;	A	ENST00000389672	Transcript	missense_variant	3294/3971	3256/3393	1086/1130	L/M	Ctg/Atg		1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2	tolerated(0.26)		17/18		Gene3D:1.10.150.50,Pfam_domain:PF00536,PROSITE_profiles:PS50105,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,SMART_domains:SM00454,Superfamily_domains:SSF47769																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	14	97747550	97747550	C	A	1	0	0	0	0	1	0	0	0	5018	680	24	2		2	EPHA6	3	97747550	Missense_Mutation	SNP	C	C3L-00279_TP	272175	97747550	100548009	137	6212											
OR5H6	0	.	GRCh38	chr3	98265143	98265143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcaagcagatgaccaaGatatgatggagtctctattt	12	11	9	9	1	1	4	0	2	1	2	3	5	2	5	2	1	1	2	2	1	4	3	rs774037160		C3L-00279_TP	C3L-00279_NB	G	G																c.859G>T	p.Asp287Tyr	p.D287Y	ENST00000383696	1/1	188	171	17	145	145	0	varscan-mutect	OR5H6,missense_variant,p.Asp287Tyr,ENST00000383696,NM_001005479.1;RP11-325B23.2,intron_variant,,ENST00000508616,;	T	ENST00000383696	Transcript	missense_variant	859/978	859/978	287/325	D/Y	Gat/Tat	rs774037160	1		1	OR5H6	HGNC	HGNC:14767	protein_coding	YES	CCDS33800.1	ENSP00000373196	Q8NGV6		UPI000004B1EC	NM_001005479.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF301,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs774037160	.												T	3	4	14	98265143	98265143	G	T	1	0	0	0	0	1	0	0	0	11233	942	33	2		2	OR5H6	3	98265143	Missense_Mutation	SNP	G	C3L-00279_TP	517593	98265143	100030416	138	6213											
ABI3BP	0	.	GRCh38	chr3	100792757	100792757	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggttcttgggtggattGgtctgtttcttctagagaaa	9	15	13	4	0	4	1	0	0	4	1	4	4	4	2	0	4	0	2	0	4	3	6	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1900C>T	p.Gln634Ter	p.Q634*	ENST00000284322	23/35	253	225	28	65	65	0	strelka-varscan-mutect	ABI3BP,stop_gained,p.Gln1311Ter,ENST00000471714,;ABI3BP,stop_gained,p.Gln634Ter,ENST00000284322,NM_015429.3;ABI3BP,stop_gained,p.Gln690Ter,ENST00000495591,;ABI3BP,stop_gained,p.Gln214Ter,ENST00000471901,;ABI3BP,stop_gained,p.Gln50Ter,ENST00000497395,;ABI3BP,intron_variant,,ENST00000486770,;ABI3BP,downstream_gene_variant,,ENST00000478235,;ABI3BP,downstream_gene_variant,,ENST00000466947,;ABI3BP,downstream_gene_variant,,ENST00000482765,;ABI3BP,downstream_gene_variant,,ENST00000527943,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000470336,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000487012,;	A	ENST00000284322	Transcript	stop_gained	2010/4498	1900/3228	634/1075	Q/*	Caa/Taa		1		-1	ABI3BP	HGNC	HGNC:17265	protein_coding	YES	CCDS46880.1	ENSP00000284322	Q7Z7G0		UPI000011C136	NM_015429.3			23/35		Low_complexity_(Seg):seg,hmmpanther:PTHR23197:SF10,hmmpanther:PTHR23197																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	14	100792757	100792757	G	A	1	0	0	0	0	0	1	0	0	101	1357	47	3		3	ABI3BP	3	100792757	Nonsense_Mutation	SNP	G	C3L-00279_TP	2527614	100792757	97502802	139	6214											
CBLB	0	.	GRCh38	chr3	105678569	105678569	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcatcaaaagcatcttCacctgcatttaaagaaaggt	15	9	9	8	0	3	1	2	0	1	1	3	2	3	1	1	2	2	3	1	2	5	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2431G>T	p.Glu811Ter	p.E811*	ENST00000264122	17/19	638	575	63	438	438	0	strelka-varscan-mutect	CBLB,stop_gained,p.Glu811Ter,ENST00000264122,NM_001321786.1,NM_001321788.1,NM_170662.3;CBLB,stop_gained,p.Glu150Ter,ENST00000394030,;CBLB,stop_gained,p.Glu26Ter,ENST00000407712,;CBLB,downstream_gene_variant,,ENST00000403724,;CBLB,downstream_gene_variant,,ENST00000405772,;CBLB,upstream_gene_variant,,ENST00000476370,;	A	ENST00000264122	Transcript	stop_gained,splice_region_variant	2753/6780	2431/2949	811/982	E/*	Gaa/Taa		1		-1	CBLB	HGNC	HGNC:1542	protein_coding	YES	CCDS2948.1	ENSP00000264122	Q13191		UPI00001AE89F	NM_001321786.1,NM_001321788.1,NM_170662.3			17/19		hmmpanther:PTHR23007:SF3,hmmpanther:PTHR23007																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	14	105678569	105678569	C	A	1	0	0	0	0	0	1	0	0	2402	840	29	2		2	CBLB	3	105678569	Nonsense_Mutation	SNP	C	C3L-00279_TP	4885812	105678569	92616990	140	6215											
PHLDB2	0	.	GRCh38	chr3	111949046	111949046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgagcctgccacagctGtgctggcgagccagccacag	8	5	12	16	1	0	1	0	1	0	0	0	2	0	1	5	1	6	2	5	1	0	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2602G>T	p.Val868Leu	p.V868L	ENST00000431670	10/18	302	262	40	210	210	0	strelka-varscan-mutect	PHLDB2,missense_variant,p.Val868Leu,ENST00000431670,NM_001134438.1;PHLDB2,missense_variant,p.Val825Leu,ENST00000412622,NM_145753.2;PHLDB2,missense_variant,p.Val852Leu,ENST00000393923,NM_001134437.1;PHLDB2,missense_variant,p.Val868Leu,ENST00000393925,NM_001134439.1;PHLDB2,missense_variant,p.Val825Leu,ENST00000481953,;PHLDB2,missense_variant,p.Val825Leu,ENST00000498699,;PHLDB2,intron_variant,,ENST00000495180,;PHLDB2,non_coding_transcript_exon_variant,,ENST00000478733,;PHLDB2,upstream_gene_variant,,ENST00000478584,;PHLDB2,upstream_gene_variant,,ENST00000460365,;PHLDB2,downstream_gene_variant,,ENST00000491694,;	T	ENST00000431670	Transcript	missense_variant	3013/6127	2602/3762	868/1253	V/L	Gtg/Ttg		1		1	PHLDB2	HGNC	HGNC:29573	protein_coding	YES	CCDS46886.1	ENSP00000405405	Q86SQ0		UPI0000457152	NM_001134438.1	tolerated(0.54)		10/18		hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF21																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	111949046	111949046	G	T	1	0	0	0	0	1	0	0	0	11940	1377	48	2		2	PHLDB2	3	111949046	Missense_Mutation	SNP	G	C3L-00279_TP	6270477	111949046	86346513	141	6216											
CASR	0	.	GRCh38	chr3	122262064	122262064	+	Silent	SNP	C	C	A																															gtccatcccaggaagtctgtCcacaatggttttgccaagga																								novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1029C>A	p.=	p.V343V	ENST00000498619	4/7	474	423	51	416	416	0	strelka-varscan-mutect	CASR,synonymous_variant,p.=,ENST00000498619,NM_001178065.1;CASR,synonymous_variant,p.=,ENST00000490131,NM_000388.3;	A	ENST00000498619	Transcript	synonymous_variant	1467/5011	1029/3267	343/1088	V	gtC/gtA		1		1	CASR	HGNC	HGNC:1514	protein_coding	YES	CCDS54632.1	ENSP00000420194		E7ENE0	UPI000020A065	NM_001178065.1			4/7		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358,Superfamily_domains:SSF53822																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	122262064	122262064	C	A	1	0	0	0	0	0	0	0	1	2381	842	30	2		2	CASR	3	122262064	Silent	SNP	C	C3L-00279_TP	10313018	122262064	76033495	142	6217	143	2									
CASR	0	.	GRCh38	chr3	122262065	122262065	+	Missense_Mutation	SNP	C	C	A																															tccatcccaggaagtctgtcCacaatggttttgccaaggag																								novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1030C>A	p.His344Asn	p.H344N	ENST00000498619	4/7	483	428	55	414	413	1	strelka-varscan-mutect	CASR,missense_variant,p.His344Asn,ENST00000498619,NM_001178065.1;CASR,missense_variant,p.His344Asn,ENST00000490131,NM_000388.3;	A	ENST00000498619	Transcript	missense_variant	1468/5011	1030/3267	344/1088	H/N	Cac/Aac		1		1	CASR	HGNC	HGNC:1514	protein_coding	YES	CCDS54632.1	ENSP00000420194		E7ENE0	UPI000020A065	NM_001178065.1	tolerated(0.71)		4/7		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	122262065	122262065	C	A	1	0	0	0	0	1	0	0	0	2381	594	21	2		2	CASR	3	122262065	Missense_Mutation	SNP	C	C3L-00279_TP	1	122262065	76033494	143	6218	143	2									
CASR	0	.	GRCh38	chr3	122284086	122284087	+	Frame_Shift_Ins	INS	-	-	A																															gtgtttgaggccaagatcccINScaccagcttccaccgcaagt																								novel		C3L-00279_TP	C3L-00279_NB	-	-																c.2162_2163insA	p.Thr722HisfsTer48	p.T722Hfs*48	ENST00000498619	7/7	124	107	17	118	118	0	sindel-varindel	CASR,frameshift_variant,p.Thr722HisfsTer48,ENST00000498619,NM_001178065.1;CASR,frameshift_variant,p.Thr712HisfsTer48,ENST00000490131,NM_000388.3;	A	ENST00000498619	Transcript	frameshift_variant	2600-2601/5011	2162-2163/3267	721/1088	P/PX	ccc/ccAc		1		1	CASR	HGNC	HGNC:1514	protein_coding	YES	CCDS54632.1	ENSP00000420194		E7ENE0	UPI000020A065	NM_001178065.1			7/7		Pfam_domain:PF00003,Prints_domain:PR00592,PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	14	122284086	122284086	-	A	1	0	1	1	0	0	0	0	0	2381	623	22	0		0	CASR	3	122284086	Frame_Shift_Ins	INS	-	C3L-00279_TP	22021	122284086	76011473	144	6219	144	2									
CASR	0	.	GRCh38	chr3	122284087	122284087	+	Silent	SNP	C	C	A																															gtgtttgaggccaagatcccCaccagcttccaccgcaagtg																								novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2163C>A	p.=	p.P721P	ENST00000498619	7/7	139	121	18	122	120	2	strelka-mutect	CASR,synonymous_variant,p.=,ENST00000498619,NM_001178065.1;CASR,synonymous_variant,p.=,ENST00000490131,NM_000388.3;	A	ENST00000498619	Transcript	synonymous_variant	2601/5011	2163/3267	721/1088	P	ccC/ccA		1		1	CASR	HGNC	HGNC:1514	protein_coding	YES	CCDS54632.1	ENSP00000420194		E7ENE0	UPI000020A065	NM_001178065.1			7/7		Pfam_domain:PF00003,Prints_domain:PR00592,PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	122284087	122284087	C	A	1	0	0	0	0	0	0	0	1	2381	581	21	2		2	CASR	3	122284087	Silent	SNP	C	C3L-00279_TP	1	122284087	76011472	145	6220	144	2									
CASR	0	.	GRCh38	chr3	122284100	122284100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccccaccagcttccacCgcaagtggtgggggctcaac	9	6	11	15	1	1	1	1	0	0	1	3	1	3	1	5	3	2	3	5	3	2	1	rs768333005		C3L-00279_TP	C3L-00279_NB	C	C																c.2176C>G	p.Arg726Gly	p.R726G	ENST00000498619	7/7	119	104	15	116	116	0	strelka-varscan-mutect	CASR,missense_variant,p.Arg726Gly,ENST00000498619,NM_001178065.1;CASR,missense_variant,p.Arg716Gly,ENST00000490131,NM_000388.3;	G	ENST00000498619	Transcript	missense_variant	2614/5011	2176/3267	726/1088	R/G	Cgc/Ggc	rs768333005	1		1	CASR	HGNC	HGNC:1514	protein_coding	YES	CCDS54632.1	ENSP00000420194		E7ENE0	UPI000020A065	NM_001178065.1	tolerated(0.11)		7/7		Pfam_domain:PF00003,Prints_domain:PR00592,PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358																	MODERATE	1	SNV	1			1										PASS		rs768333005	.												G	3	3	14	122284100	122284100	C	G	1	0	0	0	0	1	0	0	0	2381	652	23	4		4	CASR	3	122284100	Missense_Mutation	SNP	C	C3L-00279_TP	13	122284100	76011459	146	6221											
MYLK	0	.	GRCh38	chr3	123707945	123707945	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgaggacactctggcccagGgaggctgtcactgagcgagg	9	6	16	10	1	2	2	1	2	1	0	2	5	2	4	1	5	1	1	1	5	0	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2199C>A	p.=	p.S733S	ENST00000360304	15/33	392	333	59	323	323	0	strelka-varscan-mutect	MYLK,synonymous_variant,p.=,ENST00000360772,;MYLK,synonymous_variant,p.=,ENST00000360304,NM_001321309.1,NM_053025.3;MYLK,synonymous_variant,p.=,ENST00000359169,NM_053027.3;MYLK,synonymous_variant,p.=,ENST00000354792,;MYLK,synonymous_variant,p.=,ENST00000346322,NM_053028.3,NM_053026.3;MYLK,synonymous_variant,p.=,ENST00000475616,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,downstream_gene_variant,,ENST00000514623,;	T	ENST00000360304	Transcript	synonymous_variant	2385/7738	2199/5745	733/1914	S	tcC/tcA		1		-1	MYLK	HGNC	HGNC:7590	protein_coding	YES	CCDS46896.1	ENSP00000353452	Q15746		UPI000020A0AE	NM_001321309.1,NM_053025.3			15/33		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF700,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	14	123707945	123707945	G	T	1	0	0	0	0	0	0	0	1	10056	1219	43	2		2	MYLK	3	123707945	Silent	SNP	G	C3L-00279_TP	1423845	123707945	74587614	147	6222											
MYLK	0	.	GRCh38	chr3	123733057	123733057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcctgtctcctcacggggGtgccttccaggaaccaggcc	5	9	11	16	1	2	0	1	0	1	0	5	1	4	1	6	4	2	0	6	4	1	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1355C>A	p.Thr452Asn	p.T452N	ENST00000360304	10/33	505	437	68	449	449	0	strelka-varscan-mutect	MYLK,missense_variant,p.Thr452Asn,ENST00000360772,;MYLK,missense_variant,p.Thr452Asn,ENST00000360304,NM_001321309.1,NM_053025.3;MYLK,missense_variant,p.Thr452Asn,ENST00000359169,NM_053027.3;MYLK,missense_variant,p.Thr452Asn,ENST00000475616,;MYLK,intron_variant,,ENST00000354792,;MYLK,intron_variant,,ENST00000346322,NM_053028.3,NM_053026.3;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,intron_variant,,ENST00000514623,;MYLK,downstream_gene_variant,,ENST00000506361,;	T	ENST00000360304	Transcript	missense_variant	1541/7738	1355/5745	452/1914	T/N	aCc/aAc		1		-1	MYLK	HGNC	HGNC:7590	protein_coding	YES	CCDS46896.1	ENSP00000353452	Q15746		UPI000020A0AE	NM_001321309.1,NM_053025.3	tolerated(0.5)		10/33		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF700,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs769458226	.												T	3	4	14	123733057	123733057	G	T	1	0	0	0	0	1	0	0	0	10056	1261	44	2		2	MYLK	3	123733057	Missense_Mutation	SNP	G	C3L-00279_TP	25112	123733057	74562502	148	6223											
ALDH1L1	0	.	GRCh38	chr3	126160856	126160856	+	Frame_Shift_Del	DEL	G	G	-																															tccattggctcactcacccaGggggtcggcctttccatcct																								novel		C3L-00279_TP	C3L-00279_NB	G	G																c.154delC	p.Leu52TrpfsTer53	p.L52Wfs*53	ENST00000273450	2/23	113	94	19	116	116	0	sindel-varindel-pindel	ALDH1L1,frameshift_variant,p.Leu42TrpfsTer53,ENST00000393434,NM_012190.3;ALDH1L1,frameshift_variant,p.Leu52TrpfsTer53,ENST00000273450,NM_001270364.1;ALDH1L1,frameshift_variant,p.Leu42TrpfsTer53,ENST00000472186,;ALDH1L1,frameshift_variant,p.Leu42TrpfsTer53,ENST00000455064,;ALDH1L1,frameshift_variant,p.Leu42TrpfsTer53,ENST00000393431,;ALDH1L1,frameshift_variant,p.Leu42TrpfsTer53,ENST00000452905,NM_001270365.1;ALDH1L1,frameshift_variant,p.Leu42TrpfsTer53,ENST00000460368,;ALDH1L1,frameshift_variant,p.Leu42TrpfsTer53,ENST00000488356,;ALDH1L1,frameshift_variant,p.Leu42TrpfsTer53,ENST00000490367,;ALDH1L1,frameshift_variant,p.Leu42TrpfsTer53,ENST00000509952,;RNU1-30P,upstream_gene_variant,,ENST00000606575,;ALDH1L1,upstream_gene_variant,,ENST00000413612,;ALDH1L1,frameshift_variant,p.Leu42TrpfsTer566,ENST00000473607,;ALDH1L1,frameshift_variant,p.Leu42TrpfsTer8,ENST00000493803,;ALDH1L1,frameshift_variant,p.Leu42TrpfsTer?,ENST00000511283,;ALDH1L1,upstream_gene_variant,,ENST00000476245,;ALDH1L1,upstream_gene_variant,,ENST00000484724,;	-	ENST00000273450	Transcript	frameshift_variant	372/3179	154/2739	52/912	L/X	Ctg/tg		1		-1	ALDH1L1	HGNC	HGNC:3978	protein_coding	YES	CCDS58851.1	ENSP00000273450	O75891		UPI0000425C57	NM_001270364.1			2/23		Gene3D:3.40.50.170,Pfam_domain:PF00551,PIRSF_domain:PIRSF036489,Superfamily_domains:SSF53328																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	14	126160856	126160856	G	-	1	0	1	0	1	0	0	0	0	594	1014	35	0		0	ALDH1L1	3	126160856	Frame_Shift_Del	DEL	G	C3L-00279_TP	2427799	126160856	72134703	149	6224											
UROC1	0	.	GRCh38	chr3	126500843	126500843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtccaccaagcactcccCcgtcgtgtccaattcgtgga	8	8	9	16	3	0	0	0	0	0	0	5	1	3	1	5	2	1	1	5	2	2	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1177G>A	p.Gly393Arg	p.G393R	ENST00000383579	12/21	539	452	87	524	524	0	strelka-varscan-mutect	UROC1,missense_variant,p.Gly333Arg,ENST00000290868,NM_144639.2;UROC1,missense_variant,p.Gly393Arg,ENST00000383579,NM_001165974.1;	T	ENST00000383579	Transcript	missense_variant	1211/2735	1177/2211	393/736	G/R	Ggg/Agg		1		-1	UROC1	HGNC	HGNC:26444	protein_coding	YES	CCDS54636.1	ENSP00000373073	Q96N76		UPI0000480109	NM_001165974.1	deleterious(0.02)		12/21		Gene3D:1x87B01,HAMAP:MF_00577,Pfam_domain:PF01175,hmmpanther:PTHR12216,hmmpanther:PTHR12216:SF3,Superfamily_domains:SSF111326																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	126500843	126500843	C	T	1	0	0	0	0	1	0	0	0	17560	623	22	3		3	UROC1	3	126500843	Missense_Mutation	SNP	C	C3L-00279_TP	339987	126500843	71794716	150	6225											
COL6A5	0	.	GRCh38	chr3	130406157	130406157	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggagacgatgggattgaTggacttgatggggaagaggt	11	9	18	3	1	0	4	0	2	0	2	0	9	0	7	0	6	0	0	0	6	1	2	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.4407T>A	p.Asp1469Glu	p.D1469E	ENST00000265379	16/43	297	273	24	156	156	0	strelka-varscan-mutect	COL6A5,missense_variant,p.Asp1469Glu,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,missense_variant,p.Asp1469Glu,ENST00000312481,;	A	ENST00000265379	Transcript	missense_variant	4901/9214	4407/7836	1469/2611	D/E	gaT/gaA		1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1	deleterious(0.04)		16/43		Low_complexity_(Seg):seg,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF133,Pfam_domain:PF01391																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	14	130406157	130406157	T	A	1	0	0	0	0	1	0	0	0	3491	1461	51	4		4	COL6A5	3	130406157	Missense_Mutation	SNP	T	C3L-00279_TP	3905314	130406157	67889402	151	6226											
EPHB1	0	.	GRCh38	chr3	135132840	135132840	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcatctgcaaaaagtGccgggcagaccgccggagct	12	5	11	13	3	2	1	1	0	1	1	2	2	2	2	3	2	4	3	3	2	3	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1088G>T	p.Cys363Phe	p.C363F	ENST00000398015	5/16	262	227	35	248	248	0	strelka-varscan-mutect	EPHB1,missense_variant,p.Cys363Phe,ENST00000398015,NM_004441.4;EPHB1,5_prime_UTR_variant,,ENST00000493838,;EPHB1,downstream_gene_variant,,ENST00000488154,;EPHB1,non_coding_transcript_exon_variant,,ENST00000488992,;EPHB1,downstream_gene_variant,,ENST00000482618,;	T	ENST00000398015	Transcript	missense_variant	1458/4672	1088/2955	363/984	C/F	tGc/tTc		1		1	EPHB1	HGNC	HGNC:3392	protein_coding	YES	CCDS46921.1	ENSP00000381097	P54762		UPI000012A07E	NM_004441.4	deleterious(0)		5/16		Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,Low_complexity_(Seg):seg,SMART_domains:SM00060,Superfamily_domains:SSF49265,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	135132840	135132840	G	T	1	0	0	0	0	1	0	0	0	5021	1319	46	2		2	EPHB1	3	135132840	Missense_Mutation	SNP	G	C3L-00279_TP	4726683	135132840	63162719	152	6227											
U2SURP	0	.	GRCh38	chr3	143016290	143016290	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagctgctgagatttatgagGagtttcttgctgcttttgaa	8	16	11	6	0	1	3	0	3	1	1	1	5	1	4	0	1	4	5	0	1	2	6	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.355G>T	p.Glu119Ter	p.E119*	ENST00000473835	5/28	175	155	20	46	46	0	strelka-varscan-mutect	U2SURP,stop_gained,p.Glu119Ter,ENST00000473835,NM_001320219.1,NM_001080415.1;U2SURP,stop_gained,p.Glu119Ter,ENST00000493598,;U2SURP,stop_gained,p.Glu99Ter,ENST00000600150,;U2SURP,stop_gained,p.Glu119Ter,ENST00000493782,;U2SURP,stop_gained,p.Glu89Ter,ENST00000465175,;U2SURP,non_coding_transcript_exon_variant,,ENST00000485374,;U2SURP,stop_gained,p.Glu121Ter,ENST00000463563,;U2SURP,stop_gained,p.Glu119Ter,ENST00000488497,;U2SURP,non_coding_transcript_exon_variant,,ENST00000461591,;U2SURP,non_coding_transcript_exon_variant,,ENST00000470400,;U2SURP,non_coding_transcript_exon_variant,,ENST00000491827,;U2SURP,upstream_gene_variant,,ENST00000488587,;	T	ENST00000473835	Transcript	stop_gained	445/7276	355/3090	119/1029	E/*	Gag/Tag		1		1	U2SURP	HGNC	HGNC:30855	protein_coding	YES	CCDS46928.1	ENSP00000418563	O15042		UPI0000160746	NM_001320219.1,NM_001080415.1			5/28		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23140:SF1,hmmpanther:PTHR23140																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	14	143016290	143016290	G	T	1	0	0	0	0	0	1	0	0	17341	1175	41	2		2	U2SURP	3	143016290	Nonsense_Mutation	SNP	G	C3L-00279_TP	7883450	143016290	55279269	153	6228											
ZIC1	0	.	GRCh38	chr3	147410697	147410697	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgctgcgccgcagctgcaCggctacgggcccatgaacgt	7	7	13	14	5	0	1	0	1	0	0	0	1	0	1	2	2	6	5	2	2	3	2	rs775474959		C3L-00279_TP	C3L-00279_NB	C	C																c.585C>G	p.His195Gln	p.H195Q	ENST00000282928	1/3	356	310	46	293	293	0	strelka-varscan-mutect	ZIC1,missense_variant,p.His195Gln,ENST00000282928,NM_003412.3;ZIC1,intron_variant,,ENST00000488404,;ZIC4,upstream_gene_variant,,ENST00000383075,NM_032153.5;ZIC4,upstream_gene_variant,,ENST00000462748,;ZIC4,upstream_gene_variant,,ENST00000491672,NM_001243256.1;ZIC4,upstream_gene_variant,,ENST00000463250,;ZIC1,intron_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000464144,;	G	ENST00000282928	Transcript	missense_variant	1314/5241	585/1344	195/447	H/Q	caC/caG	rs775474959	1		1	ZIC1	HGNC	HGNC:12872	protein_coding	YES	CCDS3136.1	ENSP00000282928	Q15915		UPI000013DD09	NM_003412.3	tolerated(0.07)		1/3		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26																	MODERATE	1	SNV	1			1										PASS		rs775474959	.												G	3	3	14	147410697	147410697	C	G	1	0	0	0	0	1	0	0	0	18257	535	19	4		4	ZIC1	3	147410697	Missense_Mutation	SNP	C	C3L-00279_TP	4394407	147410697	50884862	154	6229											
SI	0	.	GRCh38	chr3	165062457	165062457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accggtaactctatatgttaCtattggagtaggctggataa	12	13	10	6	1	1	0	0	0	1	0	1	2	1	2	1	4	2	4	1	4	7	8	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.934G>T	p.Val312Leu	p.V312L	ENST00000264382	9/48	187	161	26	63	63	0	strelka-varscan-mutect	SI,missense_variant,p.Val312Leu,ENST00000264382,NM_001041.3;	A	ENST00000264382	Transcript	missense_variant	997/6011	934/5484	312/1827	V/L	Gta/Tta		1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	tolerated(0.77)		9/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66,Superfamily_domains:SSF74650																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	165062457	165062457	C	A	1	0	0	0	0	1	0	0	0	14561	565	20	2		2	SI	3	165062457	Missense_Mutation	SNP	C	C3L-00279_TP	17651760	165062457	33233102	155	6230											
TNIK	0	.	GRCh38	chr3	171126101	171126101	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgctcgtgcactgactgGgaggcggtcaaggcaggtcc	6	7	17	11	2	1	1	1	1	0	0	3	2	2	2	1	6	2	4	1	6	1	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1824C>T	p.=	p.S608S	ENST00000436636	17/33	95	78	17	80	80	0	strelka-varscan-mutect	TNIK,synonymous_variant,p.=,ENST00000436636,NM_015028.2;TNIK,synonymous_variant,p.=,ENST00000341852,NM_001161565.1;TNIK,synonymous_variant,p.=,ENST00000284483,NM_001161560.1;TNIK,synonymous_variant,p.=,ENST00000357327,NM_001161561.1;TNIK,synonymous_variant,p.=,ENST00000470834,NM_001161562.1;TNIK,synonymous_variant,p.=,ENST00000488470,NM_001161563.1;TNIK,synonymous_variant,p.=,ENST00000460047,NM_001161564.1;TNIK,synonymous_variant,p.=,ENST00000475336,NM_001161566.1;	A	ENST00000436636	Transcript	synonymous_variant	2169/6970	1824/4083	608/1360	S	tcC/tcT		1		-1	TNIK	HGNC	HGNC:30765	protein_coding	YES	CCDS46956.1	ENSP00000399511	Q9UKE5		UPI000003ABDF	NM_015028.2			17/33																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	171126101	171126101	G	A	1	0	0	0	0	0	0	0	1	16786	1219	43	3		3	TNIK	3	171126101	Silent	SNP	G	C3L-00279_TP	6063644	171126101	27169458	156	6231											
TNIK	0	.	GRCh38	chr3	171138351	171138351	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtctttctgcttgtctcTgttcttccaattgtttgcgc	3	19	8	11	1	4	0	0	0	4	0	6	0	5	0	1	0	2	4	1	0	1	6	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.1448A>T	p.Gln483Leu	p.Q483L	ENST00000436636	15/33	79	70	9	65	65	0	strelka-varscan-mutect	TNIK,missense_variant,p.Gln483Leu,ENST00000436636,NM_015028.2;TNIK,missense_variant,p.Gln454Leu,ENST00000341852,NM_001161565.1;TNIK,missense_variant,p.Gln483Leu,ENST00000284483,NM_001161560.1;TNIK,missense_variant,p.Gln454Leu,ENST00000357327,NM_001161561.1;TNIK,missense_variant,p.Gln454Leu,ENST00000470834,NM_001161562.1;TNIK,missense_variant,p.Gln483Leu,ENST00000488470,NM_001161563.1;TNIK,missense_variant,p.Gln483Leu,ENST00000460047,NM_001161564.1;TNIK,missense_variant,p.Gln454Leu,ENST00000475336,NM_001161566.1;	A	ENST00000436636	Transcript	missense_variant	1793/6970	1448/4083	483/1360	Q/L	cAg/cTg		1		-1	TNIK	HGNC	HGNC:30765	protein_coding	YES	CCDS46956.1	ENSP00000399511	Q9UKE5		UPI000003ABDF	NM_015028.2	tolerated(0.09)		15/33		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF308,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	171138351	171138351	T	A	1	0	0	0	0	1	0	0	0	16786	1580	55	4		4	TNIK	3	171138351	Missense_Mutation	SNP	T	C3L-00279_TP	12250	171138351	27157208	157	6232											
CEP19	0	.	GRCh38	chr3	196707800	196707800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccagactctgccccgaCaagtaacctcgtaaaaaact	13	8	6	14	2	2	1	0	0	2	1	3	2	2	1	4	0	4	2	4	0	5	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.255G>T	p.Leu85Phe	p.L85F	ENST00000409690	3/3	474	404	70	292	292	0	strelka-varscan-mutect	CEP19,missense_variant,p.Leu85Phe,ENST00000409690,NM_032898.4;CEP19,missense_variant,p.Leu46Phe,ENST00000399942,;PIGX,intron_variant,,ENST00000426755,;PIGX,upstream_gene_variant,,ENST00000392391,NM_017861.3;PIGX,upstream_gene_variant,,ENST00000296333,NM_001166304.1;PIGX,upstream_gene_variant,,ENST00000451319,;PIGX,upstream_gene_variant,,ENST00000421265,;RNU6-646P,downstream_gene_variant,,ENST00000364571,;PIGX,upstream_gene_variant,,ENST00000495440,;PIGX,upstream_gene_variant,,ENST00000415832,;PIGX,upstream_gene_variant,,ENST00000453218,;PIGX,upstream_gene_variant,,ENST00000457284,;	A	ENST00000409690	Transcript	missense_variant	678/2201	255/504	85/167	L/F	ttG/ttT		1		-1	CEP19	HGNC	HGNC:28209	protein_coding	YES	CCDS43193.2	ENSP00000387209	Q96LK0		UPI0000071B37	NM_032898.4	deleterious(0.01)		3/3		Pfam_domain:PF14933,hmmpanther:PTHR31539																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	196707800	196707800	C	A	1	0	0	0	0	1	0	0	0	2966	477	17	2		2	CEP19	3	196707800	Missense_Mutation	SNP	C	C3L-00279_TP	25569449	196707800	1587759	158	6233											
RGS12	0	.	GRCh38	chr4	3316430	3316430	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgaaattaattgggaagtGctctggtgtccttcacatgg	10	13	12	6	0	2	1	1	1	1	0	3	2	3	2	1	3	1	1	1	3	3	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.260G>T	p.Cys87Phe	p.C87F	ENST00000344733	2/18	335	312	23	306	306	0	strelka-varscan-mutect	RGS12,missense_variant,p.Cys87Phe,ENST00000382788,NM_002926.3;RGS12,missense_variant,p.Cys87Phe,ENST00000344733,NM_198229.2;RGS12,missense_variant,p.Cys87Phe,ENST00000336727,;RGS12,upstream_gene_variant,,ENST00000511805,;RP11-357G3.2,downstream_gene_variant,,ENST00000600073,;RGS12,missense_variant,p.Cys87Phe,ENST00000514268,;RGS12,non_coding_transcript_exon_variant,,ENST00000502947,;RGS12,intron_variant,,ENST00000506631,;RP11-357G3.2,downstream_gene_variant,,ENST00000510094,;	T	ENST00000344733	Transcript	missense_variant	1164/5469	260/4344	87/1447	C/F	tGc/tTc		1		1	RGS12	HGNC	HGNC:9994	protein_coding	YES	CCDS3366.1	ENSP00000339381	O14924		UPI0000133830	NM_198229.2	deleterious(0)		2/18		PROSITE_profiles:PS50106,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF149,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	3316430	3316430	G	T	1	0	0	0	0	1	0	0	0	13466	1319	46	2		2	RGS12	4	3316430	Missense_Mutation	SNP	G	C3L-00279_TP		3316430	186898125	159	6234											
EVC2	0	.	GRCh38	chr4	5663202	5663202	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcattcacgccatcagcTgaggtgaacggcaagggttc	9	9	11	12	2	3	2	3	2	0	0	5	2	4	2	2	3	2	3	2	3	2	2	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.1050A>T	p.=	p.S350S	ENST00000344408	9/22	516	437	79	465	465	0	strelka-varscan-mutect	EVC2,synonymous_variant,p.=,ENST00000310917,NM_001166136.1;EVC2,synonymous_variant,p.=,ENST00000344408,NM_147127.4;EVC2,synonymous_variant,p.=,ENST00000475313,;EVC2,synonymous_variant,p.=,ENST00000509670,;	A	ENST00000344408	Transcript	synonymous_variant	1104/4390	1050/3927	350/1308	S	tcA/tcT		1		-1	EVC2	HGNC	HGNC:19747	protein_coding	YES	CCDS3382.2	ENSP00000342144	Q86UK5		UPI00001910B5	NM_147127.4			9/22		Pfam_domain:PF12297,hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF14																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	5663202	5663202	T	A	1	0	0	0	0	0	0	0	1	5153	1567	55	4		4	EVC2	4	5663202	Silent	SNP	T	C3L-00279_TP	2346772	5663202	184551353	160	6235											
EVC	0	.	GRCh38	chr4	5753011	5753011	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagctgctcacgcagcAgcacaaggccttctggcagg	9	5	15	12	1	2	0	1	0	1	0	2	2	2	2	1	5	4	6	1	5	1	1	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.1274A>T	p.Gln425Leu	p.Q425L	ENST00000264956	9/21	343	298	45	298	298	0	strelka-varscan-mutect	EVC,missense_variant,p.Gln425Leu,ENST00000264956,NM_001306090.1,NM_153717.2;EVC,missense_variant,p.Gln425Leu,ENST00000509451,NM_001306092.1;EVC,non_coding_transcript_exon_variant,,ENST00000514919,;CRMP1,intron_variant,,ENST00000506216,;	T	ENST00000264956	Transcript	missense_variant	1458/6431	1274/2979	425/992	Q/L	cAg/cTg		1		1	EVC	HGNC	HGNC:3497	protein_coding	YES	CCDS3383.1	ENSP00000264956	P57679		UPI000012A2A5	NM_001306090.1,NM_153717.2	tolerated(1)		9/21		hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	5753011	5753011	A	T	1	0	0	0	0	1	0	0	0	5152	188	7	4		4	EVC	4	5753011	Missense_Mutation	SNP	A	C3L-00279_TP	89809	5753011	184461544	161	6236											
C4orf50	0	.	GRCh38	chr4	5973803	5973803	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggtgggtgatcaggcggttCctctcccggcacttccggac	5	9	14	13	3	2	1	1	1	1	0	5	2	4	2	3	6	0	2	3	6	0	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.3960G>C	p.Arg1320Ser	p.R1320S	ENST00000531445	9/12	149	138	11	126	126	0	strelka-mutect	C4orf50,missense_variant,p.Arg1320Ser,ENST00000531445,;C4orf50,missense_variant,p.Arg88Ser,ENST00000324058,;	G	ENST00000531445	Transcript	missense_variant	4036/6860	3960/4527	1320/1508	R/S	agG/agC		1		-1	C4orf50	HGNC	HGNC:33766	protein_coding	YES		ENSP00000437121		E9PNW5			deleterious(0)		9/12		hmmpanther:PTHR36866,Pfam_domain:PF15030																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	5973803	5973803	C	G	1	0	0	0	0	1	0	0	0	2089	854	30	4		4	C4orf50	4	5973803	Missense_Mutation	SNP	C	C3L-00279_TP	220792	5973803	184240752	162	6237											
SLC2A9	0	.	GRCh38	chr4	9908298	9908298	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgtatgggatctttgcCggagggatcccagcttttcc	6	12	13	10	2	1	1	0	1	1	0	3	4	3	4	3	3	2	2	3	3	1	4	rs576420234		C3L-00279_TP	C3L-00279_NB	C	C																c.1050G>T	p.=	p.P350P	ENST00000264784	8/12	361	313	48	341	341	0	strelka-varscan-mutect	SLC2A9,synonymous_variant,p.=,ENST00000506583,;SLC2A9,synonymous_variant,p.=,ENST00000309065,NM_001001290.1;SLC2A9,synonymous_variant,p.=,ENST00000264784,NM_020041.2;SLC2A9,non_coding_transcript_exon_variant,,ENST00000505104,;SLC2A9,non_coding_transcript_exon_variant,,ENST00000503280,;	A	ENST00000264784	Transcript	synonymous_variant	1104/1850	1050/1623	350/540	P	ccG/ccT	rs576420234,COSM3927450,COSM3927451	1		-1	SLC2A9	HGNC	HGNC:13446	protein_coding	YES	CCDS3407.1	ENSP00000264784	Q9NRM0		UPI000013D56E	NM_020041.2			8/12		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR23503,hmmpanther:PTHR23503:SF35,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs576420234	.												A	2	1	14	9908298	9908298	C	A	1	0	0	0	0	0	0	0	1	14822	639	23	1		1	SLC2A9	4	9908298	Silent	SNP	C	C3L-00279_TP	3934495	9908298	180306257	163	6238											
FAM184B	0	.	GRCh38	chr4	17636610	17636610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtcctcgggcctggacGctcccttccctggcttctct	3	11	11	16	2	1	0	0	0	1	0	6	2	4	1	4	4	0	2	4	4	1	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2702C>A	p.Ala901Glu	p.A901E	ENST00000265018	15/18	163	153	10	185	184	1	strelka-varscan-mutect	FAM184B,missense_variant,p.Ala901Glu,ENST00000265018,NM_015688.1;MED28,downstream_gene_variant,,ENST00000237380,NM_025205.4;MED28,downstream_gene_variant,,ENST00000499786,;	T	ENST00000265018	Transcript	missense_variant	2915/6622	2702/3183	901/1060	A/E	gCg/gAg		1		-1	FAM184B	HGNC	HGNC:29235	protein_coding	YES	CCDS47033.1	ENSP00000265018	Q9ULE4		UPI000020BD7C	NM_015688.1	tolerated(0.47)		15/18		hmmpanther:PTHR18870:SF8,hmmpanther:PTHR18870																	MODERATE	1	SNV	1			1										PASS		rs1483292394	.												T	3	4	14	17636610	17636610	G	T	1	0	0	0	0	1	0	0	0	5359	1087	38	1		1	FAM184B	4	17636610	Missense_Mutation	SNP	G	C3L-00279_TP	7728312	17636610	172577945	164	6239											
ADGRA3	0	.	GRCh38	chr4	22387939	22387939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctacttttgggaagtgtGctacaagcatcgctgctgtc	7	13	11	10	1	0	0	0	0	0	0	2	1	0	1	0	1	6	5	0	1	4	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.3732C>T	p.=	p.S1244S	ENST00000334304	19/19	196	178	18	192	192	0	strelka-varscan-mutect	ADGRA3,synonymous_variant,p.=,ENST00000334304,NM_145290.3;ADGRA3,non_coding_transcript_exon_variant,,ENST00000282943,;ADGRA3,downstream_gene_variant,,ENST00000504617,;ADGRA3,non_coding_transcript_exon_variant,,ENST00000499527,;ADGRA3,intron_variant,,ENST00000511051,;	A	ENST00000334304	Transcript	synonymous_variant	4002/4566	3732/3966	1244/1321	S	agC/agT		1		-1	ADGRA3	HGNC	HGNC:13839	protein_coding	YES	CCDS33964.1	ENSP00000334952	Q8IWK6		UPI00001D7735	NM_145290.3			19/19																			LOW	1	SNV	1			1										PASS		rs1169737414	.												A	2	1	14	22387939	22387939	G	A	1	0	0	0	0	0	0	0	1	354	1310	46	3		3	ADGRA3	4	22387939	Silent	SNP	G	C3L-00279_TP	4751329	22387939	167826616	165	6240											
ADGRA3	0	.	GRCh38	chr4	22401471	22401471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctagtctgggttattcctCccacaaagaccacacaggtt	10	11	7	13	0	1	1	0	0	1	1	4	1	4	1	4	2	0	2	4	2	3	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2441G>T	p.Gly814Val	p.G814V	ENST00000334304	16/19	226	195	31	130	130	0	strelka-varscan-mutect	ADGRA3,missense_variant,p.Gly814Val,ENST00000334304,NM_145290.3;ADGRA3,non_coding_transcript_exon_variant,,ENST00000282943,;ADGRA3,intron_variant,,ENST00000504617,;ADGRA3,5_prime_UTR_variant,,ENST00000511051,;	A	ENST00000334304	Transcript	missense_variant	2711/4566	2441/3966	814/1321	G/V	gGa/gTa		1		-1	ADGRA3	HGNC	HGNC:13839	protein_coding	YES	CCDS33964.1	ENSP00000334952	Q8IWK6		UPI00001D7735	NM_145290.3	deleterious(0)		16/19		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF35,hmmpanther:PTHR12011,Pfam_domain:PF00002																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	22401471	22401471	C	A	1	0	0	0	0	1	0	0	0	354	855	30	2		2	ADGRA3	4	22401471	Missense_Mutation	SNP	C	C3L-00279_TP	13532	22401471	167813084	166	6241											
STIM2	0	.	GRCh38	chr4	27002997	27002997	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atttagagcgcaaaatgatgGatgaaatcaattatgcaaag	18	10	9	4	1	1	3	1	2	0	1	1	4	1	4	0	1	2	2	0	1	7	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.874G>C	p.Asp292His	p.D292H	ENST00000465503	7/13	130	114	16	127	127	0	strelka-mutect	STIM2,missense_variant,p.Asp292His,ENST00000467087,NM_020860.3;STIM2,missense_variant,p.Asp292His,ENST00000467011,NM_001169117.1;STIM2,missense_variant,p.Asp292His,ENST00000465503,NM_001169118.1;STIM2,upstream_gene_variant,,ENST00000473519,;STIM2,downstream_gene_variant,,ENST00000463501,;STIM2,downstream_gene_variant,,ENST00000494628,;	C	ENST00000465503	Transcript	missense_variant	1252/3613	874/2265	292/754	D/H	Gat/Cat		1		1	STIM2	HGNC	HGNC:19205	protein_coding	YES	CCDS54751.1	ENSP00000417569		H0Y860	UPI0001B79443	NM_001169118.1	deleterious(0.02)		7/13		hmmpanther:PTHR15136,hmmpanther:PTHR15136:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	14	27002997	27002997	G	C	1	0	0	0	0	1	0	0	0	15661	1174	41	4		4	STIM2	4	27002997	Missense_Mutation	SNP	G	C3L-00279_TP	4601526	27002997	163211558	167	6242											
PCDH7	0	.	GRCh38	chr4	30721589	30721589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caacgtggcttcagacctggGcatcgtgaccggatcgggtg	7	8	15	11	4	1	2	1	1	0	1	3	3	1	3	2	4	1	2	2	4	1	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.167G>T	p.Gly56Val	p.G56V	ENST00000543491	1/1	153	124	29	154	154	0	strelka-varscan-mutect	PCDH7,missense_variant,p.Gly56Val,ENST00000361762,NM_002589.2;PCDH7,missense_variant,p.Gly56Val,ENST00000543491,NM_032456.2;PCDH7,upstream_gene_variant,,ENST00000511884,NM_032457.3,NM_001173523.1;PCDH7,upstream_gene_variant,,ENST00000621961,;PCDH7,upstream_gene_variant,,ENST00000509759,;PCDH7,upstream_gene_variant,,ENST00000507864,;	T	ENST00000543491	Transcript	missense_variant	737/4457	167/3219	56/1072	G/V	gGc/gTc		1		1	PCDH7	HGNC	HGNC:8659	protein_coding	YES	CCDS75116.1	ENSP00000441802	O60245		UPI00001615DB	NM_032456.2	deleterious(0.03)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF321,Gene3D:2.60.40.60,Pfam_domain:PF08266,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV				1										PASS		rs1225973318	.												T	3	4	14	30721589	30721589	G	T	1	0	0	0	0	1	0	0	0	11603	1203	42	2		2	PCDH7	4	30721589	Missense_Mutation	SNP	G	C3L-00279_TP	3718592	30721589	159492966	168	6243											
GABRG1	0	.	GRCh38	chr4	46097216	46097216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctcctatatctggacGaagtttattgtcatagcctt	9	16	6	10	1	2	0	1	0	1	0	3	2	3	1	3	1	2	1	3	1	6	8			C3L-00279_TP	C3L-00279_NB	G	G																c.238C>A	p.Arg80Ser	p.R80S	ENST00000295452	2/9	65	53	12	33	33	0	strelka-varscan-mutect	GABRG1,missense_variant,p.Arg80Ser,ENST00000295452,NM_173536.3;	T	ENST00000295452	Transcript	missense_variant	406/6785	238/1398	80/465	R/S	Cgt/Agt	COSM1429842	1		-1	GABRG1	HGNC	HGNC:4086	protein_coding	YES	CCDS3470.1	ENSP00000295452	Q8N1C3		UPI0000047AE2	NM_173536.3	deleterious(0)		2/9		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR01620,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,TIGRFAM_domain:TIGR00860											1						MODERATE	1	SNV	1		1	1										PASS		rs1239800695	.												T	3	4	14	46097216	46097216	G	T	1	0	0	0	0	1	0	0	0	6042	1058	37	1		1	GABRG1	4	46097216	Missense_Mutation	SNP	G	C3L-00279_TP	15375627	46097216	144117339	169	6244											
GABRB1	0	.	GRCh38	chr4	47406727	47406727	+	Missense_Mutation	SNP	G	G	T																															aaccatcagcacccacctcaGggagaccctgccaaagatcc																								rs35402897		C3L-00279_TP	C3L-00279_NB	G	G																c.881G>T	p.Arg294Met	p.R294M	ENST00000295454	8/9	338	314	24	234	234	0	strelka-varscan-mutect	GABRB1,missense_variant,p.Arg294Met,ENST00000295454,NM_000812.3;GABRB1,downstream_gene_variant,,ENST00000510909,;	T	ENST00000295454	Transcript	missense_variant	1173/2143	881/1425	294/474	R/M	aGg/aTg	rs35402897	1		1	GABRB1	HGNC	HGNC:4081	protein_coding	YES	CCDS3474.1	ENSP00000295454	P18505	X5DNL6	UPI000012AFAC	NM_000812.3	deleterious(0)		8/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF429,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Gene3D:1.20.58.390,Superfamily_domains:SSF90112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	47406727	47406727	G	T	1	0	0	0	0	1	0	0	0	6037	1000	35	2		2	GABRB1	4	47406727	Missense_Mutation	SNP	G	C3L-00279_TP	1309511	47406727	142807828	170	6245	145	2									
GABRB1	0	.	GRCh38	chr4	47406728	47406728	+	Missense_Mutation	SNP	G	G	T																															accatcagcacccacctcagGgagaccctgccaaagatccc																								rs775709875		C3L-00279_TP	C3L-00279_NB	G	G																c.882G>T	p.Arg294Ser	p.R294S	ENST00000295454	8/9	340	316	24	232	231	1	strelka-varscan-mutect	GABRB1,missense_variant,p.Arg294Ser,ENST00000295454,NM_000812.3;GABRB1,downstream_gene_variant,,ENST00000510909,;	T	ENST00000295454	Transcript	missense_variant	1174/2143	882/1425	294/474	R/S	agG/agT	rs775709875	1		1	GABRB1	HGNC	HGNC:4081	protein_coding	YES	CCDS3474.1	ENSP00000295454	P18505	X5DNL6	UPI000012AFAC	NM_000812.3	deleterious(0.02)		8/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF429,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Gene3D:1.20.58.390,Superfamily_domains:SSF90112																	MODERATE	1	SNV	1			1										PASS		rs775709875	.												T	3	4	14	47406728	47406728	G	T	1	0	0	0	0	1	0	0	0	6037	1223	43	2		2	GABRB1	4	47406728	Missense_Mutation	SNP	G	C3L-00279_TP	1	47406728	142807827	171	6246	145	2									
FRYL	0	.	GRCh38	chr4	48570853	48570853	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgacaccagcatctgcCagcagttcaaatattcgtac	13	10	6	12	1	2	1	1	1	1	0	3	1	2	1	2	0	4	4	2	0	4	5	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2970G>A	p.=	p.L990L	ENST00000358350	27/64	165	147	18	148	147	1	strelka-varscan-mutect	FRYL,synonymous_variant,p.=,ENST00000358350,NM_015030.1;FRYL,synonymous_variant,p.=,ENST00000503238,;FRYL,synonymous_variant,p.=,ENST00000507711,;RNU5E-3P,downstream_gene_variant,,ENST00000515913,;FRYL,non_coding_transcript_exon_variant,,ENST00000511343,;	T	ENST00000358350	Transcript	synonymous_variant	3575/11706	2970/9042	990/3013	L	ctG/ctA		1		-1	FRYL	HGNC	HGNC:29127	protein_coding	YES	CCDS43227.1	ENSP00000351113	O94915		UPI0000EBC149	NM_015030.1			27/64		hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF9,Superfamily_domains:SSF48371																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	14	48570853	48570853	C	T	1	0	0	0	0	0	0	0	1	5936	581	21	3		3	FRYL	4	48570853	Silent	SNP	C	C3L-00279_TP	1164125	48570853	141643702	172	6247											
PDGFRA	0	.	GRCh38	chr4	54261325	54261325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagtgcctcggcggccCacacagggttgtacacttgc	7	8	13	13	2	0	1	0	1	0	0	1	1	0	1	2	3	4	3	2	3	1	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.280C>A	p.His94Asn	p.H94N	ENST00000257290	3/23	325	263	62	281	281	0	strelka-varscan-mutect	PDGFRA,missense_variant,p.His94Asn,ENST00000257290,NM_006206.4;PDGFRA,missense_variant,p.His94Asn,ENST00000508170,;PDGFRA,missense_variant,p.His94Asn,ENST00000504461,;PDGFRA,missense_variant,p.His94Asn,ENST00000503856,;PDGFRA,missense_variant,p.His119Asn,ENST00000512143,;PDGFRA,missense_variant,p.His94Asn,ENST00000512522,;RP11-231C18.3,intron_variant,,ENST00000507166,;PDGFRA,missense_variant,p.His94Asn,ENST00000509490,;PDGFRA,intron_variant,,ENST00000509092,;	A	ENST00000257290	Transcript	missense_variant	611/6576	280/3270	94/1089	H/N	Cac/Aac		1		1	PDGFRA	HGNC	HGNC:8803	protein_coding	YES	CCDS3495.1	ENSP00000257290	P16234		UPI0000131793	NM_006206.4	tolerated(0.79)		3/23		PROSITE_profiles:PS50835,hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726,Prints_domain:PR01832																	MODERATE	1	SNV	1			1										PASS		rs1418656533	.												A	3	1	14	54261325	54261325	C	A	1	0	0	0	0	1	0	0	0	11749	594	21	2		2	PDGFRA	4	54261325	Missense_Mutation	SNP	C	C3L-00279_TP	5690472	54261325	135953230	173	6248											
PDGFRA	0	.	GRCh38	chr4	54285482	54285482	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggagtttttggcttcaaAaaatgtaagttcaaggaaca	16	12	9	4	0	2	0	2	0	0	0	2	2	2	2	0	3	1	4	0	3	7	5	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.2435A>T	p.Lys812Ile	p.K812I	ENST00000257290	17/23	427	373	54	272	272	0	strelka-varscan-mutect	PDGFRA,missense_variant,p.Lys812Ile,ENST00000257290,NM_006206.4;RP11-231C18.3,missense_variant,p.Lys572Ile,ENST00000507166,;PDGFRA,downstream_gene_variant,,ENST00000509490,;PDGFRA,downstream_gene_variant,,ENST00000509092,;PDGFRA,downstream_gene_variant,,ENST00000507536,;	T	ENST00000257290	Transcript	missense_variant	2766/6576	2435/3270	812/1089	K/I	aAa/aTa		1		1	PDGFRA	HGNC	HGNC:8803	protein_coding	YES	CCDS3495.1	ENSP00000257290	P16234		UPI0000131793	NM_006206.4	deleterious(0)		17/23		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	54285482	54285482	A	T	1	0	0	0	0	1	0	0	0	11749	28	1	4		4	PDGFRA	4	54285482	Missense_Mutation	SNP	A	C3L-00279_TP	24157	54285482	135929073	174	6249											
TMPRSS11D	0	.	GRCh38	chr4	67827277	67827277	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagcatattcttgagcGccccatcctgttacataagc	10	12	6	13	1	1	1	0	1	1	0	2	1	2	1	4	0	5	2	4	0	4	6	rs368640864		C3L-00279_TP	C3L-00279_NB	G	G																c.936C>A	p.=	p.G312G	ENST00000283916	8/10	139	113	26	97	97	0	strelka-varscan-mutect	TMPRSS11D,synonymous_variant,p.=,ENST00000283916,NM_004262.2;TMPRSS11D,intron_variant,,ENST00000514868,;UBA6-AS1,intron_variant,,ENST00000500538,;TMPRSS11D,downstream_gene_variant,,ENST00000502573,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000505533,;	T	ENST00000283916	Transcript	synonymous_variant	1035/2817	936/1257	312/418	G	ggC/ggA	rs368640864,COSM1430607	1		-1	TMPRSS11D	HGNC	HGNC:24059	protein_coding	YES	CCDS3518.1	ENSP00000283916	O60235		UPI000003FE66	NM_004262.2			8/10		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF20,hmmpanther:PTHR24256,Gene3D:2.40.10.10,PIRSF_domain:PIRSF037941,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494											0,1						LOW	1	SNV	1		0,1	1										PASS		rs368640864	.												T	2	4	14	67827277	67827277	G	T	1	0	0	0	0	0	0	0	1	16717	1074	38	1		1	TMPRSS11D	4	67827277	Silent	SNP	G	C3L-00279_TP	13541795	67827277	122387278	175	6250											
RUFY3	0	.	GRCh38	chr4	70789517	70789517	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagacttaggagtaaaacAgaaaagtgaactaaacagtc	19	8	8	6	0	1	3	1	1	0	2	2	4	1	4	0	1	3	1	0	1	8	4	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.1262A>T	p.Gln421Leu	p.Q421L	ENST00000381006	12/18	112	96	16	40	40	0	strelka-varscan-mutect	RUFY3,missense_variant,p.Gln421Leu,ENST00000226328,NM_001291994.1,NM_014961.4;RUFY3,missense_variant,p.Gln421Leu,ENST00000381006,NM_001037442.3;RUFY3,missense_variant,p.Gln368Leu,ENST00000502653,NM_001291993.1;RUFY3,missense_variant,p.Gln481Leu,ENST00000417478,NM_001130709.1;RUFY3,upstream_gene_variant,,ENST00000507333,;RUFY3,missense_variant,p.Gln20Leu,ENST00000512103,;RUFY3,missense_variant,p.Gln69Leu,ENST00000504805,;	T	ENST00000381006	Transcript	missense_variant	1841/3098	1262/1863	421/620	Q/L	cAg/cTg		1		1	RUFY3	HGNC	HGNC:30285	protein_coding	YES	CCDS34001.1	ENSP00000370394	Q7L099		UPI00005FB126	NM_001037442.3	deleterious(0)		12/18		hmmpanther:PTHR22835:SF37,hmmpanther:PTHR22835																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	70789517	70789517	A	T	1	0	0	0	0	1	0	0	0	14002	188	7	4		4	RUFY3	4	70789517	Missense_Mutation	SNP	A	C3L-00279_TP	2962240	70789517	119425038	176	6251											
MMRN1	0	.	GRCh38	chr4	89935407	89935407	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaagaaagcaagattaacaAtctcaccgtctctttggaga	15	10	7	9	1	3	3	2	0	2	3	5	4	3	3	1	1	2	1	1	1	5	2	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.1727A>T	p.Asn576Ile	p.N576I	ENST00000394980	7/9	164	153	11	49	49	0	strelka-mutect	MMRN1,missense_variant,p.Asn576Ile,ENST00000394980,;MMRN1,missense_variant,p.Asn576Ile,ENST00000264790,NM_007351.2;MMRN1,missense_variant,p.Asn318Ile,ENST00000508372,;	T	ENST00000394980	Transcript	missense_variant	2046/5217	1727/3687	576/1228	N/I	aAt/aTt		1		1	MMRN1	HGNC	HGNC:7178	protein_coding	YES	CCDS3635.1	ENSP00000378431	Q13201		UPI000013D570		deleterious(0)		7/9		hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3																	MODERATE	1	SNV	5			1										PASS		rs1245775900	.												T	3	4	14	89935407	89935407	A	T	1	0	0	0	0	1	0	0	0	9633	101	4	4		4	MMRN1	4	89935407	Missense_Mutation	SNP	A	C3L-00279_TP	19145890	89935407	100279148	177	6252											
CCSER1	0	.	GRCh38	chr4	91598651	91598651	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatactcccaccgaggaccGttttaggtattcggcagcgg	9	9	11	12	4	0	0	0	0	0	0	2	2	1	1	3	4	2	3	3	4	3	5	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2297G>C	p.Arg766Pro	p.R766P	ENST00000509176	11/11	273	231	42	256	256	0	strelka-varscan-mutect	CCSER1,missense_variant,p.Arg766Pro,ENST00000509176,NM_001145065.1;RP11-254A24.2,upstream_gene_variant,,ENST00000623567,;	C	ENST00000509176	Transcript	missense_variant	2585/5847	2297/2703	766/900	R/P	cGt/cCt		1		1	CCSER1	HGNC	HGNC:29349	protein_coding	YES	CCDS47099.1	ENSP00000425040	Q9C0I3		UPI00005A6104	NM_001145065.1	tolerated_low_confidence(0.3)		11/11		hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF1																	MODERATE	1	SNV	1			1										PASS		rs1259840333	.												C	3	2	14	91598651	91598651	G	C	1	0	0	0	0	1	0	0	0	2652	1145	40	4		4	CCSER1	4	91598651	Missense_Mutation	SNP	G	C3L-00279_TP	1663244	91598651	98615904	178	6253											
UNC5C	0	.	GRCh38	chr4	95335592	95335592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagaggctcaggtggatcaGaaggaaaagtttctgggagt	12	8	16	5	0	3	2	2	0	1	2	3	5	3	5	0	5	0	3	0	5	3	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.164C>T	p.Ser55Phe	p.S55F	ENST00000453304	2/16	132	114	18	54	54	0	strelka-varscan-mutect	UNC5C,missense_variant,p.Ser55Phe,ENST00000453304,NM_003728.3;UNC5C,missense_variant,p.Ser14Phe,ENST00000610318,;UNC5C,missense_variant,p.Ser55Phe,ENST00000513796,;UNC5C,missense_variant,p.Ser55Phe,ENST00000506749,;UNC5C,missense_variant,p.Ser55Phe,ENST00000504962,;	A	ENST00000453304	Transcript	missense_variant	513/9875	164/2796	55/931	S/F	tCt/tTt		1		-1	UNC5C	HGNC	HGNC:12569	protein_coding	YES	CCDS3643.1	ENSP00000406022	O95185		UPI000004E6A5	NM_003728.3	deleterious(0)		2/16																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	95335592	95335592	G	A	1	0	0	0	0	1	0	0	0	17517	942	33	3		3	UNC5C	4	95335592	Missense_Mutation	SNP	G	C3L-00279_TP	3736941	95335592	94878963	179	6254											
TACR3	0	.	GRCh38	chr4	103589768	103589768	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattcctgcgagagcagcCattgaaacttgggtctcttg	9	11	12	9	1	1	2	0	1	1	1	3	4	2	3	2	2	4	1	2	2	2	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1312G>T	p.Gly438Cys	p.G438C	ENST00000304883	5/5	508	428	80	483	483	0	strelka-varscan-mutect	TACR3,missense_variant,p.Gly438Cys,ENST00000304883,NM_001059.2;RP11-297P16.3,intron_variant,,ENST00000502936,;RP11-297P16.3,intron_variant,,ENST00000512401,;	A	ENST00000304883	Transcript	missense_variant	1453/5190	1312/1398	438/465	G/C	Ggc/Tgc		1		-1	TACR3	HGNC	HGNC:11528	protein_coding	YES	CCDS3664.1	ENSP00000303325	P29371		UPI0000050413	NM_001059.2	deleterious(0.01)		5/5		hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF46																	MODERATE	1	SNV	1			1										PASS		rs1308179178	.												A	3	1	14	103589768	103589768	C	A	1	0	0	0	0	1	0	0	0	15903	594	21	2		2	TACR3	4	103589768	Missense_Mutation	SNP	C	C3L-00279_TP	8254176	103589768	86624787	180	6255											
DKK2	0	.	GRCh38	chr4	107035416	107035416	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgccgaatgccagtcctTggtacatgcccgcagatcga	8	8	11	14	4	0	1	0	0	0	1	2	3	1	1	5	1	4	2	5	1	2	2			C3L-00279_TP	C3L-00279_NB	T	T																c.176A>T	p.Gln59Leu	p.Q59L	ENST00000285311	1/4	363	342	21	301	300	1	varscan-mutect	DKK2,missense_variant,p.Gln59Leu,ENST00000285311,NM_014421.2;DKK2,intron_variant,,ENST00000513208,;DKK2,intron_variant,,ENST00000510463,;DKK2,non_coding_transcript_exon_variant,,ENST00000510534,;	A	ENST00000285311	Transcript	missense_variant	882/3638	176/780	59/259	Q/L	cAa/cTa	COSM4452306	1		-1	DKK2	HGNC	HGNC:2892	protein_coding	YES	CCDS3675.1	ENSP00000285311	Q9UBU2		UPI0000048EF2	NM_014421.2	tolerated(0.29)		1/4		hmmpanther:PTHR12113:SF12,hmmpanther:PTHR12113											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	14	107035416	107035416	T	A	1	0	0	0	0	1	0	0	0	4351	1812	63	4		4	DKK2	4	107035416	Missense_Mutation	SNP	T	C3L-00279_TP	3445648	107035416	83179139	181	6256											
GAR1	0	.	GRCh38	chr4	109816292	109816292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcggcggcaatttcagagGcggcggcaggggaggatttg	8	6	20	7	4	1	1	1	0	0	1	1	3	1	3	0	9	0	2	0	9	1	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.128G>T	p.Gly43Val	p.G43V	ENST00000226796	2/7	131	106	25	137	137	0	strelka-varscan-mutect	GAR1,missense_variant,p.Gly43Val,ENST00000226796,NM_018983.3;GAR1,missense_variant,p.Gly43Val,ENST00000394631,NM_032993.2;RP11-602N24.3,upstream_gene_variant,,ENST00000609440,;GAR1,non_coding_transcript_exon_variant,,ENST00000503671,;GAR1,non_coding_transcript_exon_variant,,ENST00000506840,;	T	ENST00000226796	Transcript	missense_variant	392/1224	128/654	43/217	G/V	gGc/gTc		1		1	GAR1	HGNC	HGNC:14264	protein_coding	YES	CCDS34050.1	ENSP00000226796	Q9NY12	A0A024RDJ3	UPI0000070C13	NM_018983.3	deleterious_low_confidence(0.01)		2/7		Low_complexity_(Seg):seg,hmmpanther:PTHR23237																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	109816292	109816292	G	T	1	0	0	0	0	1	0	0	0	6108	1203	42	2		2	GAR1	4	109816292	Missense_Mutation	SNP	G	C3L-00279_TP	2780876	109816292	80398263	182	6257											
ANK2	0	.	GRCh38	chr4	113242186	113242186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcttactggatcgaggcGgtcagatcgatgccaaaact	11	9	11	10	3	2	1	1	0	1	1	4	4	2	2	1	3	4	1	1	3	3	1	rs761620495		C3L-00279_TP	C3L-00279_NB	G	G																c.868G>A	p.Gly290Ser	p.G290S	ENST00000357077	9/46	538	509	29	451	450	1	strelka-varscan-mutect	ANK2,missense_variant,p.Gly290Ser,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Gly290Ser,ENST00000264366,;ANK2,missense_variant,p.Gly269Ser,ENST00000506722,NM_001127493.1;ANK2,missense_variant,p.Gly290Ser,ENST00000394537,NM_020977.3;ANK2,missense_variant,p.Gly305Ser,ENST00000504454,;ANK2,missense_variant,p.Gly269Ser,ENST00000503423,;ANK2,missense_variant,p.Gly262Ser,ENST00000634436,;ANK2,missense_variant,p.Gly269Ser,ENST00000503271,;	A	ENST00000357077	Transcript	missense_variant	921/14196	868/11874	290/3957	G/S	Ggt/Agt	rs761620495,COSM4661560,COSM4661561	1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	tolerated(0.35)		9/46		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs761620495	.												A	3	1	14	113242186	113242186	G	A	1	0	0	0	0	1	0	0	0	721	1116	39	1		1	ANK2	4	113242186	Missense_Mutation	SNP	G	C3L-00279_TP	3425894	113242186	76972369	183	6258											
ANK2	0	.	GRCh38	chr4	113357397	113357397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgatccacaaatcactagcCcttatgaaaatgtcccttcc	13	11	4	13	0	1	2	1	2	0	0	4	2	4	2	4	0	1	0	4	0	5	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.8779C>A	p.Pro2927Thr	p.P2927T	ENST00000357077	38/46	735	679	56	216	216	0	strelka-varscan-mutect	ANK2,missense_variant,p.Pro2927Thr,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Pro2894Thr,ENST00000264366,;ANK2,3_prime_UTR_variant,,ENST00000612754,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;	A	ENST00000357077	Transcript	missense_variant	8832/14196	8779/11874	2927/3957	P/T	Cct/Act		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	deleterious_low_confidence(0)		38/46		hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	113357397	113357397	C	A	1	0	0	0	0	1	0	0	0	721	623	22	2		2	ANK2	4	113357397	Missense_Mutation	SNP	C	C3L-00279_TP	115211	113357397	76857158	184	6259											
FAT4	0	.	GRCh38	chr4	125490363	125490363	+	Frame_Shift_Del	DEL	C	C	-																															catcgtgggcagctgcgcaaCcgtcttggccctcctggtcc																										C3L-00279_TP	C3L-00279_NB	C	C																c.13542delC	p.Val4515SerfsTer9	p.V4515Sfs*9	ENST00000394329	17/17	391	348	43	473	473	0	sindel-varindel-pindel	FAT4,frameshift_variant,p.Val4515SerfsTer9,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,frameshift_variant,p.Val2756SerfsTer9,ENST00000335110,;	-	ENST00000394329	Transcript	frameshift_variant	13554/16123	13541/14946	4514/4981	T/X	aCc/ac	COSM3600101,COSM3600102	1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4			17/17		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix											1,1						HIGH	1	deletion	5	1	1,1	1										PASS		.	.												-	7	5	14	125490363	125490363	C	-	1	0	1	0	1	0	0	0	0	5552	507	18	0		0	FAT4	4	125490363	Frame_Shift_Del	DEL	C	C3L-00279_TP	12132966	125490363	64724192	185	6260											
PCDH10	0	.	GRCh38	chr4	133151324	133151324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaatgggcaggtgcagtGcgagctactgggagacgtgc	9	6	19	7	2	0	2	0	0	0	2	0	5	0	2	0	4	5	3	0	4	2	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1184G>T	p.Cys395Phe	p.C395F	ENST00000264360	1/5	316	276	40	351	351	0	strelka-varscan-mutect	PCDH10,missense_variant,p.Cys395Phe,ENST00000264360,NM_032961.2;PCDH10,missense_variant,p.Cys395Phe,ENST00000618019,NM_020815.2;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;PCDH10,upstream_gene_variant,,ENST00000511112,;	T	ENST00000264360	Transcript	missense_variant	2010/8489	1184/3123	395/1040	C/F	tGc/tTc		1		1	PCDH10	HGNC	HGNC:13404	protein_coding	YES	CCDS34063.1	ENSP00000264360	Q9P2E7	X5D999	UPI0000161C61	NM_032961.2	deleterious(0)		1/5		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF0,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	133151324	133151324	G	T	1	0	0	0	0	1	0	0	0	11594	1319	46	2		2	PCDH10	4	133151324	Missense_Mutation	SNP	G	C3L-00279_TP	7660961	133151324	57063231	186	6261											
MAML3	0	.	GRCh38	chr4	139719709	139719709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccgtgttagcatccaCgactgactggctcagtccct	6	11	10	14	2	1	1	1	1	0	0	3	2	3	1	3	1	2	3	3	1	1	1	rs373700602		C3L-00279_TP	C3L-00279_NB	C	C																c.3031G>T	p.Val1011Leu	p.V1011L	ENST00000509479	5/5	231	188	43	207	207	0	strelka-varscan-mutect	MAML3,missense_variant,p.Val1011Leu,ENST00000509479,NM_018717.4;MGST2,intron_variant,,ENST00000616265,NM_001204367.1,NM_001204366.1;MAML3,downstream_gene_variant,,ENST00000502696,;MGST2,intron_variant,,ENST00000515137,;MGST2,intron_variant,,ENST00000503816,;	A	ENST00000509479	Transcript	missense_variant	3888/6844	3031/3417	1011/1138	V/L	Gtg/Ttg	rs373700602,COSM4122412,COSM4122413	1		-1	MAML3	HGNC	HGNC:16272	protein_coding	YES	CCDS54805.1	ENSP00000421180	Q96JK9		UPI00001C1E1E	NM_018717.4	tolerated(0.56)		5/5		hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF8											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs373700602	.												A	3	1	14	139719709	139719709	C	A	1	0	0	0	0	1	0	0	0	9128	536	19	1		1	MAML3	4	139719709	Missense_Mutation	SNP	C	C3L-00279_TP	6568385	139719709	50494846	187	6262											
SMARCA5	0	.	GRCh38	chr4	143548079	143548079	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttatgatgaattgcgacAgtgtattcgcaactctcctc	9	15	8	9	2	1	2	0	2	1	0	4	3	1	2	1	0	2	3	1	0	4	5	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.2924A>T	p.Gln975Leu	p.Q975L	ENST00000283131	22/24	99	92	7	37	37	0	strelka-mutect	SMARCA5,missense_variant,p.Gln975Leu,ENST00000283131,NM_003601.3;SMARCA5,non_coding_transcript_exon_variant,,ENST00000508573,;SMARCA5,downstream_gene_variant,,ENST00000515531,;	T	ENST00000283131	Transcript	missense_variant	3386/7923	2924/3159	975/1052	Q/L	cAg/cTg		1		1	SMARCA5	HGNC	HGNC:11101	protein_coding	YES	CCDS3761.1	ENSP00000283131	O60264		UPI000006E693	NM_003601.3	tolerated(0.13)		22/24		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF691,Pfam_domain:PF09111,Gene3D:1.10.10.60,SMART_domains:SM00717,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	143548079	143548079	A	T	1	0	0	0	0	1	0	0	0	15064	188	7	4		4	SMARCA5	4	143548079	Missense_Mutation	SNP	A	C3L-00279_TP	3828370	143548079	46666476	188	6263											
GYPE	0	.	GRCh38	chr4	143876855	143876855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accaattaatgagtgttatcCctacaggagataaagagagc	16	9	9	7	0	0	3	0	1	0	2	1	5	1	3	2	1	2	1	2	1	6	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.137G>A	p.Gly46Glu	p.G46E	ENST00000358615	3/4	276	226	50	82	82	0	strelka-varscan-mutect	GYPE,missense_variant,p.Gly46Glu,ENST00000358615,NM_198682.2;GYPE,missense_variant,p.Gly46Glu,ENST00000437468,NM_002102.3;GYPE,intron_variant,,ENST00000506264,;	T	ENST00000358615	Transcript	missense_variant,splice_region_variant	189/1684	137/237	46/78	G/E	gGg/gAg		1		-1	GYPE	HGNC	HGNC:4705	protein_coding	YES	CCDS47138.1	ENSP00000351430	P15421		UPI000012B76B	NM_198682.2	tolerated_low_confidence(0.12)		3/4		hmmpanther:PTHR13813																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	143876855	143876855	C	T	1	0	0	0	0	1	0	0	0	6793	637	22	3		3	GYPE	4	143876855	Missense_Mutation	SNP	C	C3L-00279_TP	328776	143876855	46337700	189	6264											
DCHS2	0	.	GRCh38	chr4	154320598	154320598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctgtcagtgatctcaGtcgccggtctgtcacattca	6	14	10	11	2	5	1	4	1	2	0	7	1	5	1	1	1	1	1	1	1	0	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.3436C>A	p.Leu1146Met	p.L1146M	ENST00000623607	14/25	547	475	72	484	482	2	strelka-varscan	DCHS2,missense_variant,p.Leu1146Met,ENST00000357232,;DCHS2,missense_variant,p.Leu1146Met,ENST00000623607,NM_017639.3;DCHS2,downstream_gene_variant,,ENST00000339452,NM_001142552.1;	T	ENST00000623607	Transcript	missense_variant	3436/8912	3436/8751	1146/2916	L/M	Ctg/Atg		1		-1	DCHS2	HGNC	HGNC:23111	protein_coding	YES	CCDS3785.1	ENSP00000485514	Q6V1P9		UPI000035B018	NM_017639.3	tolerated(0.09)		14/25		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF305,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	154320598	154320598	G	T	1	0	0	0	0	1	0	0	0	4091	1020	36	2		2	DCHS2	4	154320598	Missense_Mutation	SNP	G	C3L-00279_TP	10443743	154320598	35893957	190	6265											
FSTL5	0	.	GRCh38	chr4	161481035	161481035	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catacctgaacaactttttgGgactgcacatcaacaataag	15	10	6	10	0	1	1	1	1	0	0	1	2	1	2	1	1	5	1	1	1	6	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1593C>G	p.=	p.S531S	ENST00000306100	13/16	197	158	39	130	130	0	strelka-varscan	FSTL5,synonymous_variant,p.=,ENST00000306100,NM_020116.4;FSTL5,synonymous_variant,p.=,ENST00000379164,NM_001128427.2;FSTL5,synonymous_variant,p.=,ENST00000427802,NM_001128428.2;	C	ENST00000306100	Transcript	synonymous_variant	2030/4831	1593/2544	531/847	S	tcC/tcG		1		-1	FSTL5	HGNC	HGNC:21386	protein_coding	YES	CCDS3802.1	ENSP00000305334	Q8N475		UPI000020B66B	NM_020116.4			13/16		hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF44,Gene3D:2.130.10.10,Superfamily_domains:0047643																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	14	161481035	161481035	G	C	1	0	0	0	0	0	0	0	1	5954	1219	43	4		4	FSTL5	4	161481035	Silent	SNP	G	C3L-00279_TP	7160437	161481035	28733520	191	6266											
TRIML2	0	.	GRCh38	chr4	188091443	188091443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggagtctggacttgtgtctCcatttgggatacagagggaa	9	11	15	6	0	2	1	0	0	2	1	3	5	2	5	1	4	1	0	1	4	2	3			C3L-00279_TP	C3L-00279_NB	C	C																c.1244G>A	p.Gly415Glu	p.G415E	ENST00000512729	7/7	199	162	37	164	164	0	strelka-varscan	TRIML2,missense_variant,p.Gly415Glu,ENST00000512729,NM_173553.2;TRIML2,missense_variant,p.Gly400Glu,ENST00000326754,NM_001303419.1;TRIML2,3_prime_UTR_variant,,ENST00000503141,;TRIML2,3_prime_UTR_variant,,ENST00000503475,;	T	ENST00000512729	Transcript	missense_variant	1469/1639	1244/1314	415/437	G/E	gGa/gAa	COSM3131976	1		-1	TRIML2	HGNC	HGNC:26378	protein_coding	YES		ENSP00000422581	Q8N7C3		UPI000020B818	NM_173553.2	tolerated(0.76)		7/7		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF347,hmmpanther:PTHR24103,SMART_domains:SM00449,Superfamily_domains:SSF49899											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	14	188091443	188091443	C	T	1	0	0	0	0	1	0	0	0	17048	855	30	3		3	TRIML2	4	188091443	Missense_Mutation	SNP	C	C3L-00279_TP	26610408	188091443	2123112	192	6267											
TRIML1	0	.	GRCh38	chr4	188140593	188140593	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagctcaggctgtactaacCcatgagaaggagagagtgaa	15	6	13	7	0	1	3	1	2	0	2	1	7	1	4	1	2	3	3	1	2	5	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.474C>A	p.=	p.T158T	ENST00000332517	2/6	239	211	28	185	185	0	strelka-varscan	TRIML1,synonymous_variant,p.=,ENST00000332517,NM_178556.3;RP11-366H4.3,downstream_gene_variant,,ENST00000501322,;TRIML1,upstream_gene_variant,,ENST00000507581,;TRIML1,upstream_gene_variant,,ENST00000512233,;	A	ENST00000332517	Transcript	synonymous_variant	614/1797	474/1407	158/468	T	acC/acA		1		1	TRIML1	HGNC	HGNC:26698	protein_coding	YES	CCDS3851.1	ENSP00000327738	Q8N9V2		UPI000006FC8A	NM_178556.3			2/6		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF350																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	188140593	188140593	C	A	1	0	0	0	0	0	0	0	1	17047	610	22	2		2	TRIML1	4	188140593	Silent	SNP	C	C3L-00279_TP	49150	188140593	2073962	193	6268											
IRX2	0	.	GRCh38	chr5	2748882	2748882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcttgggcggcgccaggcCccgctcgccctcctcgtcgt	1	7	15	18	6	0	0	0	0	0	0	4	0	1	0	5	4	0	2	5	4	0	1			C3L-00279_TP	C3L-00279_NB	C	C																c.826G>T	p.Gly276Cys	p.G276C	ENST00000382611	3/5	261	222	39	288	288	0	strelka-varscan-mutect	IRX2,missense_variant,p.Gly276Cys,ENST00000382611,NM_001134222.1;IRX2,missense_variant,p.Gly276Cys,ENST00000302057,NM_033267.4;C5orf38,upstream_gene_variant,,ENST00000515640,NM_001306150.1;C5orf38,upstream_gene_variant,,ENST00000334000,NM_001306149.1,NM_178569.3;C5orf38,upstream_gene_variant,,ENST00000397835,;C5orf38,upstream_gene_variant,,ENST00000505778,;C5orf38,upstream_gene_variant,,ENST00000457752,NM_001294337.1;C5orf38,upstream_gene_variant,,ENST00000503940,;C5orf38,upstream_gene_variant,,ENST00000505106,;	A	ENST00000382611	Transcript	missense_variant	1075/2630	826/1416	276/471	G/C	Ggc/Tgc	COSM4790519,COSM5332780	1		-1	IRX2	HGNC	HGNC:14359	protein_coding	YES	CCDS3868.1	ENSP00000372056	Q9BZI1		UPI00001B6456	NM_001134222.1	tolerated(0.05)		3/5		hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF15											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	14	2748882	2748882	C	A	1	0	0	0	0	1	0	0	0	7752	623	22	2		2	IRX2	5	2748882	Missense_Mutation	SNP	C	C3L-00279_TP		2748882	178789377	194	6269											
ADCY2	0	.	GRCh38	chr5	7773015	7773015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgaagatgttgatcatGatggtggccttggtgggcta	8	12	16	5	0	1	4	1	3	0	1	1	5	1	4	1	4	1	3	1	4	2	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2298G>T	p.Met766Ile	p.M766I	ENST00000338316	18/25	289	264	25	281	280	1	strelka-varscan-mutect	ADCY2,missense_variant,p.Met766Ile,ENST00000338316,NM_020546.2;ADCY2,upstream_gene_variant,,ENST00000493243,;	T	ENST00000338316	Transcript	missense_variant	2387/6575	2298/3276	766/1091	M/I	atG/atT		1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2	deleterious(0)		18/25		PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	7773015	7773015	G	T	1	0	0	0	0	1	0	0	0	338	1290	45	2		2	ADCY2	5	7773015	Missense_Mutation	SNP	G	C3L-00279_TP	5024133	7773015	173765244	195	6270											
SEMA5A	0	.	GRCh38	chr5	9054150	9054150	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggcagatgtcccctcCataggccggggctggattgg	6	7	14	14	1	0	1	0	0	0	1	2	2	2	2	6	6	0	2	6	6	1	2	rs868830163		C3L-00279_TP	C3L-00279_NB	C	C																c.2626G>T	p.Gly876Ter	p.G876*	ENST00000382496	19/23	193	167	26	188	188	0	strelka-varscan-mutect	SEMA5A,stop_gained,p.Gly876Ter,ENST00000382496,NM_003966.2;MIR4636,upstream_gene_variant,,ENST00000582271,;	A	ENST00000382496	Transcript	stop_gained	3292/11762	2626/3225	876/1074	G/*	Gga/Tga	rs868830163,COSM5538748	1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2			19/23		PROSITE_profiles:PS50092,hmmpanther:PTHR11036:SF78,hmmpanther:PTHR11036,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs868830163	.												A	4	1	14	9054150	9054150	C	A	1	0	0	0	0	0	1	0	0	14313	603	21	2		2	SEMA5A	5	9054150	Nonsense_Mutation	SNP	C	C3L-00279_TP	1281135	9054150	172484109	196	6271											
CTNND2	0	.	GRCh38	chr5	11397201	11397201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actctgggagagcaggctggGccctgcattgaaagtcattt	9	10	13	9	0	2	2	1	1	1	1	2	3	2	2	1	3	2	3	1	3	1	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.442C>A	p.Pro148Thr	p.P148T	ENST00000304623	6/22	147	123	24	123	123	0	strelka-varscan-mutect	CTNND2,missense_variant,p.Pro148Thr,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Pro57Thr,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.Pro134Thr,ENST00000508761,;CTNND2,missense_variant,p.Pro57Thr,ENST00000513598,;CTNND2,intron_variant,,ENST00000503622,NM_001288716.1;CTNND2,intron_variant,,ENST00000502551,;CTNND2,intron_variant,,ENST00000504354,;CTNND2,intron_variant,,ENST00000511278,;CTNND2,missense_variant,p.Pro148Thr,ENST00000504499,;CTNND2,intron_variant,,ENST00000513588,;	T	ENST00000304623	Transcript	missense_variant,splice_region_variant	632/5481	442/3678	148/1225	P/T	Ccc/Acc		1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	deleterious(0.01)		6/22		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9																	MODERATE	1	SNV	1			1										PASS		rs1166866077	.												T	3	4	14	11397201	11397201	G	T	1	0	0	0	0	1	0	0	0	3829	1217	42	2		2	CTNND2	5	11397201	Missense_Mutation	SNP	G	C3L-00279_TP	2343051	11397201	170141058	197	6272											
PRDM9	0	.	GRCh38	chr5	23510025	23510026	+	Frame_Shift_Ins	INS	-	-	G																															gaatggacccctaggcagcaINSaggtaagagggaagggaagt																								novel		C3L-00279_TP	C3L-00279_NB	-	-																c.299_300insG	p.Val101SerfsTer14	p.V101Sfs*14	ENST00000296682	4/11	544	473	71	395	395	0	varindel-pindel	PRDM9,frameshift_variant,p.Val101SerfsTer14,ENST00000296682,NM_020227.2;PRDM9,frameshift_variant,p.Val42SerfsTer14,ENST00000635252,;PRDM9,frameshift_variant,p.Gln101GlnfsTer?,ENST00000502755,;	G	ENST00000296682	Transcript	frameshift_variant,splice_region_variant	481-482/3691	299-300/2685	100/894	Q/QX	caa/caGa		1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2			4/11																			HIGH	1	insertion	1			1										PASS		.	.												G	7	5	14	23510025	23510025	-	G	1	0	1	1	0	0	0	0	0	12595	144	5	0		0	PRDM9	5	23510025	Frame_Shift_Ins	INS	-	C3L-00279_TP	12112824	23510025	158028234	198	6273											
PRDM9	0	.	GRCh38	chr5	23522845	23522845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttatgagggccgaattaCagaagacgaagaggcagcca	14	5	12	10	2	0	4	0	1	0	3	0	6	0	4	3	2	2	1	3	2	5	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.842C>A	p.Thr281Lys	p.T281K	ENST00000296682	8/11	572	497	75	493	493	0	strelka-varscan-mutect	PRDM9,missense_variant,p.Thr281Lys,ENST00000296682,NM_020227.2;PRDM9,missense_variant,p.Thr222Lys,ENST00000635252,;	A	ENST00000296682	Transcript	missense_variant	1024/3691	842/2685	281/894	T/K	aCa/aAa		1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	deleterious(0)		8/11		PROSITE_profiles:PS50280,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,Pfam_domain:PF00856,Gene3D:2.170.270.10,Superfamily_domains:SSF82199																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	23522845	23522845	C	A	1	0	0	0	0	1	0	0	0	12595	478	17	2		2	PRDM9	5	23522845	Missense_Mutation	SNP	C	C3L-00279_TP	12820	23522845	158015414	199	6274											
ADAMTS12	0	.	GRCh38	chr5	33576998	33576998	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggttttttccattggaaaTagtgcctttgtttggtttca	6	20	10	5	0	1	0	1	0	0	0	2	1	2	1	2	3	1	3	2	3	2	8	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.3028A>T	p.Ile1010Phe	p.I1010F	ENST00000504830	19/24	411	362	49	396	396	0	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Ile1010Phe,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Ile925Phe,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	A	ENST00000504830	Transcript	missense_variant	3364/8774	3028/4785	1010/1594	I/F	Att/Ttt		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	tolerated(0.08)		19/24																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	33576998	33576998	T	A	1	0	0	0	0	1	0	0	0	301	1406	49	4		4	ADAMTS12	5	33576998	Missense_Mutation	SNP	T	C3L-00279_TP	10054153	33576998	147961261	200	6275											
AGXT2	0	.	GRCh38	chr5	35032809	35032809	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccccaagggccacgaaaaAcatctggacacattgtctgc	12	7	8	14	1	2	0	0	0	2	0	3	2	3	1	3	2	2	0	3	2	3	1	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.692T>A	p.Val231Asp	p.V231D	ENST00000231420	7/14	566	509	57	556	555	1	strelka-varscan-mutect	AGXT2,missense_variant,p.Val231Asp,ENST00000231420,NM_031900.3;AGXT2,missense_variant,p.Val231Asp,ENST00000618015,;AGXT2,missense_variant,p.Val231Asp,ENST00000510428,;AGXT2,downstream_gene_variant,,ENST00000505542,;	T	ENST00000231420	Transcript	missense_variant	893/2364	692/1545	231/514	V/D	gTt/gAt		1		-1	AGXT2	HGNC	HGNC:14412	protein_coding	YES	CCDS3908.1	ENSP00000231420	Q9BYV1		UPI0000125709	NM_031900.3	tolerated(0.12)		7/14		Gene3D:3.40.640.10,Pfam_domain:PF00202,hmmpanther:PTHR11986,hmmpanther:PTHR11986:SF58,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	35032809	35032809	A	T	1	0	0	0	0	1	0	0	0	484	43	2	4		4	AGXT2	5	35032809	Missense_Mutation	SNP	A	C3L-00279_TP	1455811	35032809	146505450	201	6276											
OSMR	0	.	GRCh38	chr5	38881666	38881666	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgagctccctttggaatGtgccacacactttgtaagaa	11	12	8	10	0	1	2	0	1	1	1	2	3	2	3	2	1	2	2	2	1	3	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.320G>C	p.Cys107Ser	p.C107S	ENST00000274276	4/18	408	340	68	298	298	0	strelka-varscan-mutect	OSMR,missense_variant,p.Cys107Ser,ENST00000274276,NM_001323505.1,NM_001323506.1,NM_003999.2;OSMR,missense_variant,p.Cys107Ser,ENST00000502536,NM_001168355.1;	C	ENST00000274276	Transcript	missense_variant	722/5539	320/2940	107/979	C/S	tGt/tCt		1		1	OSMR	HGNC	HGNC:8507	protein_coding	YES	CCDS3928.1	ENSP00000274276	Q99650		UPI000004CAC3	NM_001323505.1,NM_001323506.1,NM_003999.2	deleterious(0)		4/18		hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF95																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	14	38881666	38881666	G	C	1	0	0	0	0	1	0	0	0	11359	1377	48	4		4	OSMR	5	38881666	Missense_Mutation	SNP	G	C3L-00279_TP	3848857	38881666	142656593	202	6277											
C9	0	.	GRCh38	chr5	39316028	39316028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaatttttctcgcctttgGtctaaaagagaataaaaaag	16	13	7	5	1	2	2	0	1	2	1	3	3	2	2	1	1	0	0	1	1	7	5	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.617C>A	p.Thr206Asn	p.T206N	ENST00000263408	6/11	126	109	17	35	35	0	strelka-varscan	C9,missense_variant,p.Thr206Asn,ENST00000263408,NM_001737.3;C9,splice_region_variant,,ENST00000509186,;	T	ENST00000263408	Transcript	missense_variant,splice_region_variant	713/2713	617/1680	206/559	T/N	aCc/aAc		1		-1	C9	HGNC	HGNC:1358	protein_coding	YES	CCDS3929.1	ENSP00000263408	P02748		UPI0000001065	NM_001737.3	deleterious(0)		6/11		PROSITE_profiles:PS51412,hmmpanther:PTHR19325:SF362,hmmpanther:PTHR19325																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	39316028	39316028	G	T	1	0	0	0	0	1	0	0	0	2169	1275	44	2		2	C9	5	39316028	Missense_Mutation	SNP	G	C3L-00279_TP	434362	39316028	142222231	203	6278											
MROH2B	0	.	GRCh38	chr5	41033103	41033103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctgatcctcagcatcttGgacagcaatgccaatctcag	10	9	7	15	0	3	1	2	1	2	0	5	2	4	2	4	1	3	2	4	1	2	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2299C>A	p.Gln767Lys	p.Q767K	ENST00000399564	23/42	373	332	41	183	183	0	strelka-varscan-mutect	MROH2B,missense_variant,p.Gln767Lys,ENST00000399564,NM_173489.4;MROH2B,missense_variant,p.Gln322Lys,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;	T	ENST00000399564	Transcript	missense_variant	2750/5239	2299/4758	767/1585	Q/K	Caa/Aaa		1		-1	MROH2B	HGNC	HGNC:26857	protein_coding	YES	CCDS47202.1	ENSP00000382476	Q7Z745		UPI000020CA04	NM_173489.4	tolerated(1)		23/42		hmmpanther:PTHR23120:SF22,hmmpanther:PTHR23120,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	41033103	41033103	G	T	1	0	0	0	0	1	0	0	0	9745	1357	47	2		2	MROH2B	5	41033103	Missense_Mutation	SNP	G	C3L-00279_TP	1717075	41033103	140505156	204	6279											
HCN1	0	.	GRCh38	chr5	45303666	45303666	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatgacaccagcaacaccGtgttgaatgaaatacatttt	15	11	7	8	1	0	3	0	3	0	0	0	3	0	3	2	0	3	3	2	0	5	5			C3L-00279_TP	C3L-00279_NB	G	G																c.1551C>G	p.His517Gln	p.H517Q	ENST00000303230	6/8	507	450	57	229	229	0	strelka-varscan-mutect	HCN1,missense_variant,p.His517Gln,ENST00000303230,NM_021072.3;HCN1,non_coding_transcript_exon_variant,,ENST00000637305,;	C	ENST00000303230	Transcript	missense_variant	1792/9885	1551/2673	517/890	H/Q	caC/caG	COSM257091	1		-1	HCN1	HGNC	HGNC:4845	protein_coding	YES	CCDS3952.1	ENSP00000307342	O60741		UPI00001AED69	NM_021072.3	deleterious(0.02)		6/8		Gene3D:2.60.120.10,Pfam_domain:PF00027,PROSITE_patterns:PS00888,PROSITE_profiles:PS50042,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373,SMART_domains:SM00100,Superfamily_domains:SSF51206											1						MODERATE	1	SNV	1		1	1										PASS		rs1007416378	.												C	3	2	14	45303666	45303666	G	C	1	0	0	0	0	1	0	0	0	6883	1136	40	4		4	HCN1	5	45303666	Missense_Mutation	SNP	G	C3L-00279_TP	4270563	45303666	136234593	205	6280											
IL6ST	0	.	GRCh38	chr5	55951993	55951993	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgataaatccattctgaacAtcaacaggaagttggtccca	14	10	7	10	0	2	2	1	2	1	0	4	3	4	3	2	2	2	1	2	2	5	3	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.1635T>A	p.Asp545Glu	p.D545E	ENST00000381298	13/17	128	109	19	66	66	0	strelka-varscan-mutect	IL6ST,missense_variant,p.Asp545Glu,ENST00000381298,NM_002184.3;IL6ST,missense_variant,p.Asp545Glu,ENST00000336909,;IL6ST,missense_variant,p.Asp545Glu,ENST00000502326,;IL6ST,missense_variant,p.Asp484Glu,ENST00000381294,NM_001190981.1;IL6ST,3_prime_UTR_variant,,ENST00000381287,NM_175767.2;IL6ST,3_prime_UTR_variant,,ENST00000522633,;IL6ST,intron_variant,,ENST00000381293,;IL6ST,intron_variant,,ENST00000381286,;IL6ST,upstream_gene_variant,,ENST00000423954,;IL6ST,3_prime_UTR_variant,,ENST00000503773,;IL6ST,upstream_gene_variant,,ENST00000523039,;IL6ST,upstream_gene_variant,,ENST00000583149,;IL6ST,downstream_gene_variant,,ENST00000506241,;	T	ENST00000381298	Transcript	missense_variant	1948/9057	1635/2757	545/918	D/E	gaT/gaA		1		-1	IL6ST	HGNC	HGNC:6021	protein_coding	YES	CCDS3971.1	ENSP00000370698	P40189		UPI000013CF29	NM_002184.3	tolerated(0.31)		13/17		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF83,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs1180867411	.												T	3	4	14	55951993	55951993	A	T	1	0	0	0	0	1	0	0	0	7607	214	8	4		4	IL6ST	5	55951993	Missense_Mutation	SNP	A	C3L-00279_TP	10648327	55951993	125586266	206	6281											
VCAN	0	.	GRCh38	chr5	83542180	83542180	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaggttgcaacaccaccAttttcccttctggagacttc	9	12	7	13	0	1	2	0	1	1	1	3	3	2	2	3	2	2	2	3	2	1	5	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.9177A>G	p.=	p.P3059P	ENST00000265077	8/15	408	356	52	268	268	0	strelka-varscan-mutect	VCAN,synonymous_variant,p.=,ENST00000265077,NM_004385.4;VCAN,synonymous_variant,p.=,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,intron_variant,,ENST00000513899,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,non_coding_transcript_exon_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	G	ENST00000265077	Transcript	synonymous_variant	9742/12625	9177/10191	3059/3396	P	ccA/ccG		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4			8/15		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	14	83542180	83542180	A	G	1	0	0	0	0	0	0	0	1	17683	204	8	5		5	VCAN	5	83542180	Silent	SNP	A	C3L-00279_TP	27590187	83542180	97996079	207	6282											
FBN2	0	.	GRCh38	chr5	128277929	128277929	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtagccaaccttgcagaaGcatcggaatgagcccatggt	11	8	12	10	1	0	2	0	1	0	1	1	3	0	3	3	2	5	3	3	2	4	2			C3L-00279_TP	C3L-00279_NB	G	G																c.7422C>A	p.Cys2474Ter	p.C2474*	ENST00000508053	64/71	540	454	86	501	501	0	strelka-varscan-mutect	FBN2,stop_gained,p.Cys2474Ter,ENST00000508053,;FBN2,stop_gained,p.Cys2474Ter,ENST00000262464,NM_001999.3;FBN2,stop_gained,p.Cys2473Ter,ENST00000619499,;	T	ENST00000508053	Transcript	stop_gained	8397/11132	7422/8739	2474/2912	C/*	tgC/tgA	COSM1060312,COSM1060313	1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468				64/71		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS00010,PROSITE_patterns:PS01186,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196											1,1						HIGH	1	SNV	5		1,1	1										PASS		rs1223904235	.												T	4	4	14	128277929	128277929	G	T	1	0	0	0	0	0	1	0	0	5566	963	34	2		2	FBN2	5	128277929	Nonsense_Mutation	SNP	G	C3L-00279_TP	44735749	128277929	53260330	208	6283											
FBN2	0	.	GRCh38	chr5	128290795	128290795	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctggcatcttactacAgcagcattttgcttttgtgg	6	16	8	11	0	2	0	0	0	2	0	3	0	2	0	1	2	5	4	1	2	2	6	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.6382T>A	p.Cys2128Ser	p.C2128S	ENST00000508053	56/71	347	296	51	269	268	1	strelka-varscan-mutect	FBN2,missense_variant,p.Cys2128Ser,ENST00000508053,;FBN2,missense_variant,p.Cys2128Ser,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Cys2127Ser,ENST00000619499,;	T	ENST00000508053	Transcript	missense_variant	7357/11132	6382/8739	2128/2912	C/S	Tgt/Agt		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		deleterious(0)		56/71		Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,Superfamily_domains:SSF57581																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	128290795	128290795	A	T	1	0	0	0	0	1	0	0	0	5566	188	7	4		4	FBN2	5	128290795	Missense_Mutation	SNP	A	C3L-00279_TP	12866	128290795	53247464	209	6284											
SLC27A6	0	.	GRCh38	chr5	128988748	128988748	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgggaatttctggatgTgttgagttgggtaaggcttt	7	16	14	4	0	1	1	0	1	1	0	2	3	2	3	1	4	0	4	1	4	2	5	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.834T>A	p.Cys278Ter	p.C278*	ENST00000262462	3/10	152	125	27	102	102	0	strelka-varscan-mutect	SLC27A6,stop_gained,p.Cys278Ter,ENST00000262462,;SLC27A6,stop_gained,p.Cys278Ter,ENST00000395266,NM_014031.3,NM_001017372.1;SLC27A6,stop_gained,p.Cys278Ter,ENST00000506176,;SLC27A6,stop_gained,p.Cys97Ter,ENST00000508645,;	A	ENST00000262462	Transcript	stop_gained	1844/3219	834/1860	278/619	C/*	tgT/tgA		1		1	SLC27A6	HGNC	HGNC:11000	protein_coding	YES	CCDS4145.1	ENSP00000262462	Q9Y2P4		UPI0000038E83				3/10		hmmpanther:PTHR24096:SF98,hmmpanther:PTHR24096,Pfam_domain:PF00501,Gene3D:3.40.50.980,Superfamily_domains:SSF56801																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	14	128988748	128988748	T	A	1	0	0	0	0	0	1	0	0	14800	1702	59	4		4	SLC27A6	5	128988748	Nonsense_Mutation	SNP	T	C3L-00279_TP	697953	128988748	52549511	210	6285											
PCDHA3	0	.	GRCh38	chr5	140803492	140803492	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctggagaggggttgccCaagaccgacctcatggcttt	7	10	13	11	1	2	2	1	0	1	2	2	4	2	2	3	4	2	3	3	4	1	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2295C>A	p.=	p.P765P	ENST00000522353	1/4	239	202	37	222	221	1	strelka-varscan-mutect	PCDHA3,synonymous_variant,p.=,ENST00000522353,NM_018906.2;PCDHA3,synonymous_variant,p.=,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA4,upstream_gene_variant,,ENST00000618834,NM_031500.2;PCDHA4,upstream_gene_variant,,ENST00000530339,NM_018907.3;PCDHA4,upstream_gene_variant,,ENST00000512229,;PCDHA4,upstream_gene_variant,,ENST00000378125,;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,upstream_gene_variant,,ENST00000624176,;	A	ENST00000522353	Transcript	synonymous_variant	2295/5260	2295/2853	765/950	P	ccC/ccA		1		1	PCDHA3	HGNC	HGNC:8669	protein_coding	YES	CCDS54915.1	ENSP00000429808	Q9Y5H8		UPI00001273CB	NM_018906.2			1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	140803492	140803492	C	A	1	0	0	0	0	0	0	0	1	11612	581	21	2		2	PCDHA3	5	140803492	Silent	SNP	C	C3L-00279_TP	11814744	140803492	40734767	211	6286											
PCDHB2	0	.	GRCh38	chr5	141096342	141096342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacggccacctgttcgctCtccagtcgctggactacgag	8	8	10	15	4	1	0	0	0	1	0	4	2	1	1	3	2	2	3	3	2	2	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1552C>A	p.Leu518Ile	p.L518I	ENST00000194155	1/1	880	766	114	1041	1041	0	strelka-varscan-mutect	PCDHB2,missense_variant,p.Leu518Ile,ENST00000194155,NM_018936.3;PCDHB2,3_prime_UTR_variant,,ENST00000622947,;PCDHB3,upstream_gene_variant,,ENST00000231130,NM_018937.4;PCDHB2,downstream_gene_variant,,ENST00000624874,;PCDHB2,downstream_gene_variant,,ENST00000625033,;PCDHB2,upstream_gene_variant,,ENST00000624994,;CTC-270D5.1,non_coding_transcript_exon_variant,,ENST00000623615,;CTC-270D5.1,non_coding_transcript_exon_variant,,ENST00000623741,;AC005754.7,downstream_gene_variant,,ENST00000607216,;AC005754.7,downstream_gene_variant,,ENST00000625128,;AC005754.7,downstream_gene_variant,,ENST00000625066,;AC005754.7,downstream_gene_variant,,ENST00000624802,;	A	ENST00000194155	Transcript	missense_variant	1765/4126	1552/2397	518/798	L/I	Ctc/Atc		1		1	PCDHB2	HGNC	HGNC:8687	protein_coding	YES	CCDS4244.1	ENSP00000194155	Q9Y5E7		UPI00001273DC	NM_018936.3	deleterious_low_confidence(0.01)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												A	3	1	14	141096342	141096342	C	A	1	0	0	0	0	1	0	0	0	11629	913	32	2		2	PCDHB2	5	141096342	Missense_Mutation	SNP	C	C3L-00279_TP	292850	141096342	40441917	212	6287											
PCDHB3	0	.	GRCh38	chr5	141102213	141102213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcaggtcgctggactacGaggccctgcaggcgttcgag	6	7	14	14	4	1	0	1	0	0	0	3	3	1	1	2	4	2	3	2	4	1	2			C3L-00279_TP	C3L-00279_NB	G	G																c.1564G>A	p.Glu522Lys	p.E522K	ENST00000231130	1/1	905	790	115	876	876	0	varscan-mutect	PCDHB3,missense_variant,p.Glu522Lys,ENST00000231130,NM_018937.4;PCDHB2,downstream_gene_variant,,ENST00000194155,NM_018936.3;PCDHB2,downstream_gene_variant,,ENST00000622947,;PCDHB3,upstream_gene_variant,,ENST00000624513,;AC005754.7,non_coding_transcript_exon_variant,,ENST00000607216,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;	A	ENST00000231130	Transcript	missense_variant	1741/3355	1564/2391	522/796	E/K	Gag/Aag	COSM3610570	1		1	PCDHB3	HGNC	HGNC:8688	protein_coding	YES	CCDS4245.1	ENSP00000231130	Q9Y5E6		UPI0003CC25DF	NM_018937.4	deleterious_low_confidence(0)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE		SNV			1	1										PASS		rs1440048692	.												A	3	1	14	141102213	141102213	G	A	1	0	0	0	0	1	0	0	0	11630	1059	37	1		1	PCDHB3	5	141102213	Missense_Mutation	SNP	G	C3L-00279_TP	5871	141102213	40436046	213	6288											
PCDHB6	0	.	GRCh38	chr5	141151987	141151987	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgagctggtgccccgggCggccgagccgggctacctgg	4	4	17	16	5	0	0	0	0	0	0	0	2	0	0	6	5	4	2	6	5	1	1	rs782167344		C3L-00279_TP	C3L-00279_NB	C	C																c.1730C>A	p.Ala577Glu	p.A577E	ENST00000231136	1/1	761	661	100	817	815	2	varscan-mutect	PCDHB6,missense_variant,p.Ala577Glu,ENST00000231136,NM_018939.3;PCDHB6,missense_variant,p.Ala441Glu,ENST00000622991,NM_001303145.1;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;PCDHB17P,upstream_gene_variant,,ENST00000623466,;PCDHB17P,upstream_gene_variant,,ENST00000539533,;	A	ENST00000231136	Transcript	missense_variant	1966/3266	1730/2385	577/794	A/E	gCg/gAg	rs782167344	1		1	PCDHB6	HGNC	HGNC:8691	protein_coding	YES	CCDS4248.1	ENSP00000231136	Q9Y5E3		UPI0003CC25E7	NM_018939.3	deleterious(0.01)		1/1		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,Superfamily_domains:SSF49313																	MODERATE	1	SNV				1										PASS		rs782167344	.												A	3	1	14	141151987	141151987	C	A	1	0	0	0	0	1	0	0	0	11633	768	27	1		1	PCDHB6	5	141151987	Missense_Mutation	SNP	C	C3L-00279_TP	49774	141151987	40386272	214	6289											
PCDHB12	0	.	GRCh38	chr5	141211059	141211059	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctgtgcaggaggagcAgggcggccccggtcggtcgc	4	5	20	12	5	0	0	0	0	0	0	2	2	0	2	2	7	3	3	2	7	0	0	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.2152A>T	p.Arg718Trp	p.R718W	ENST00000239450	1/1	376	312	64	386	386	0	strelka-varscan-mutect	PCDHB12,missense_variant,p.Arg718Trp,ENST00000239450,NM_018932.3;PCDHB12,missense_variant,p.Arg381Trp,ENST00000624949,;PCDHB12,3_prime_UTR_variant,,ENST00000622978,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.3;CH17-140K24.2,intron_variant,,ENST00000624192,;	T	ENST00000239450	Transcript	missense_variant	2341/3853	2152/2388	718/795	R/W	Agg/Tgg		1		1	PCDHB12	HGNC	HGNC:8683	protein_coding	YES	CCDS4254.1	ENSP00000239450	Q9Y5F1		UPI000000DAFD	NM_018932.3	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR24028:SF59,hmmpanther:PTHR24028,Pfam_domain:PF16492																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	14	141211059	141211059	A	T	1	0	0	0	0	1	0	0	0	11624	179	7	4		4	PCDHB12	5	141211059	Missense_Mutation	SNP	A	C3L-00279_TP	59072	141211059	40327200	215	6290											
PCDHGB2	0	.	GRCh38	chr5	141360839	141360839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgaatcaaagtcacggatgCcaacgataaccctccagtgt	13	7	8	13	3	2	0	2	0	0	0	3	3	3	1	4	1	3	0	4	1	4	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.704C>A	p.Ala235Asp	p.A235D	ENST00000522605	1/4	168	143	25	164	164	0	strelka-varscan-mutect	PCDHGB2,missense_variant,p.Ala235Asp,ENST00000522605,NM_018923.2;PCDHGB2,missense_variant,p.Ala235Asp,ENST00000622527,NM_032096.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA5,upstream_gene_variant,,ENST00000518069,NM_018918.2;PCDHGA5,upstream_gene_variant,,ENST00000611914,NM_032054.1;PCDHGA4,downstream_gene_variant,,ENST00000612927,NM_032053.2;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000522605	Transcript	missense_variant	704/4602	704/2796	235/931	A/D	gCc/gAc		1		1	PCDHGB2	HGNC	HGNC:8709	protein_coding	YES	CCDS54924.1	ENSP00000429018	Q9Y5G2		UPI000006EE67	NM_018923.2	deleterious(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF73,hmmpanther:PTHR24028,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112																	MODERATE	1	SNV	1			1										PASS		rs1337655560	.												A	3	1	14	141360839	141360839	C	A	1	0	0	0	0	1	0	0	0	11650	739	26	2		2	PCDHGB2	5	141360839	Missense_Mutation	SNP	C	C3L-00279_TP	149780	141360839	40177420	216	6291											
KCTD16	0	.	GRCh38	chr5	144206924	144206924	+	Frame_Shift_Del	DEL	G	G	-																															gatctagccaaggactccaaGggaaggtttttcattgacag																								novel		C3L-00279_TP	C3L-00279_NB	G	G																c.212delG	p.Gly71GlufsTer36	p.G71Efs*36	ENST00000507359	2/3	111	99	12	98	98	0	sindel-varindel-pindel	KCTD16,frameshift_variant,p.Gly71GlufsTer36,ENST00000507359,;KCTD16,frameshift_variant,p.Gly71GlufsTer36,ENST00000512467,NM_020768.3;	-	ENST00000507359	Transcript	frameshift_variant	1301/13950	210/1287	70/428	K/X	aaG/aa		1		1	KCTD16	HGNC	HGNC:29244	protein_coding	YES	CCDS34260.1	ENSP00000426548	Q68DU8		UPI000004A046				2/3		hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF28,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	14	144206924	144206924	G	-	1	0	1	0	1	0	0	0	0	8020	991	35	0		0	KCTD16	5	144206924	Frame_Shift_Del	DEL	G	C3L-00279_TP	2846085	144206924	37331335	217	6292											
PDGFRB	0	.	GRCh38	chr5	150115939	150115939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgttgacttcattcaGggtggagctagaggaaagag	11	9	17	4	0	2	3	2	1	0	2	2	6	2	6	0	5	1	2	0	5	2	4	rs529787907		C3L-00279_TP	C3L-00279_NB	G	G																c.3145C>A	p.Leu1049Met	p.L1049M	ENST00000261799	23/23	101	86	15	105	105	0	strelka-varscan-mutect	PDGFRB,missense_variant,p.Leu1049Met,ENST00000261799,NM_002609.3;CSF1R,upstream_gene_variant,,ENST00000286301,NM_001288705.1,NM_005211.3;CSF1R,upstream_gene_variant,,ENST00000511344,;PDGFRB,downstream_gene_variant,,ENST00000519575,;PDGFRB,upstream_gene_variant,,ENST00000520851,;PDGFRB,downstream_gene_variant,,ENST00000521723,;PDGFRB,3_prime_UTR_variant,,ENST00000520579,;	T	ENST00000261799	Transcript	missense_variant	3615/5717	3145/3321	1049/1106	L/M	Ctg/Atg	rs529787907	1		-1	PDGFRB	HGNC	HGNC:8804	protein_coding	YES	CCDS4303.1	ENSP00000261799	P09619		UPI0000131791	NM_002609.3	tolerated(0.1)		23/23		PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500948,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF53																	MODERATE	1	SNV	1			1										PASS		rs529787907	.												T	3	4	14	150115939	150115939	G	T	1	0	0	0	0	1	0	0	0	11750	991	35	2		2	PDGFRB	5	150115939	Missense_Mutation	SNP	G	C3L-00279_TP	5909015	150115939	31422320	218	6293											
SLC36A1	0	.	GRCh38	chr5	151458847	151458847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgactacagctccacggacGtgagccctgaggagagcccg	10	4	13	14	4	0	3	0	2	0	1	1	6	1	4	3	2	4	1	3	2	1	1	rs752896616		C3L-00279_TP	C3L-00279_NB	G	G																c.55G>T	p.Val19Leu	p.V19L	ENST00000243389	2/11	157	138	19	163	163	0	strelka-varscan-mutect	SLC36A1,missense_variant,p.Val19Leu,ENST00000243389,NM_078483.2;SLC36A1,missense_variant,p.Val19Leu,ENST00000520701,;SLC36A1,missense_variant,p.Val19Leu,ENST00000521925,;SLC36A1,missense_variant,p.Val19Leu,ENST00000616007,;SLC36A1,missense_variant,p.Val19Leu,ENST00000429484,NM_001308151.1;SLC36A1,missense_variant,p.Val19Leu,ENST00000520111,;SLC36A1,missense_variant,p.Val19Leu,ENST00000517945,;SLC36A1,missense_variant,p.Val19Leu,ENST00000519829,;SLC36A1,non_coding_transcript_exon_variant,,ENST00000521351,;	T	ENST00000243389	Transcript	missense_variant	278/5781	55/1431	19/476	V/L	Gtg/Ttg	rs752896616	1		1	SLC36A1	HGNC	HGNC:18761	protein_coding	YES	CCDS4316.1	ENSP00000243389	Q7Z2H8		UPI00001A9D3C	NM_078483.2	tolerated(0.71)		2/11		hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF188																	MODERATE	1	SNV	1			1										PASS		rs752896616	.												T	3	4	14	151458847	151458847	G	T	1	0	0	0	0	1	0	0	0	14871	1145	40	1		1	SLC36A1	5	151458847	Missense_Mutation	SNP	G	C3L-00279_TP	1342908	151458847	30079412	219	6294											
ITK	0	.	GRCh38	chr5	157244454	157244454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatggcctacctggaagaGgcatgtgtcatccacagaga	11	7	13	10	0	1	2	1	0	0	2	2	4	2	3	3	4	1	2	3	4	2	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1425G>T	p.Glu475Asp	p.E475D	ENST00000422843	13/17	423	356	67	451	451	0	strelka-varscan-mutect	ITK,missense_variant,p.Glu475Asp,ENST00000422843,NM_005546.3;ITK,non_coding_transcript_exon_variant,,ENST00000519749,;ITK,non_coding_transcript_exon_variant,,ENST00000519402,;ITK,upstream_gene_variant,,ENST00000523926,;ITK,downstream_gene_variant,,ENST00000520173,;ITK,downstream_gene_variant,,ENST00000519759,;	T	ENST00000422843	Transcript	missense_variant	1577/4528	1425/1863	475/620	E/D	gaG/gaT		1		1	ITK	HGNC	HGNC:6171	protein_coding	YES	CCDS4336.1	ENSP00000398655	Q08881		UPI000004CADA	NM_005546.3	tolerated(0.1)		13/17		PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF61,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	157244454	157244454	G	T	1	0	0	0	0	1	0	0	0	7815	991	35	2		2	ITK	5	157244454	Missense_Mutation	SNP	G	C3L-00279_TP	5785607	157244454	24293805	220	6295											
DOCK2	0	.	GRCh38	chr5	170034490	170034490	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcctcctggagaagctgctgGattaccggggtgtgatgaca	8	9	15	9	1	0	3	0	2	0	1	1	5	1	4	3	4	3	2	3	4	2	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.3559G>C	p.Asp1187His	p.D1187H	ENST00000256935	35/52	319	271	48	370	370	0	strelka-varscan-mutect	DOCK2,missense_variant,p.Asp1187His,ENST00000256935,NM_004946.2;DOCK2,missense_variant,p.Asp679His,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,3_prime_UTR_variant,,ENST00000433448,;	C	ENST00000256935	Transcript	missense_variant	3639/6097	3559/5493	1187/1830	D/H	Gat/Cat		1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2	deleterious(0)		35/52		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Pfam_domain:PF06920																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	14	170034490	170034490	G	C	1	0	0	0	0	1	0	0	0	4502	1174	41	4		4	DOCK2	5	170034490	Missense_Mutation	SNP	G	C3L-00279_TP	12790036	170034490	11503769	221	6296											
HK3	0	.	GRCh38	chr5	176889691	176889691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacccccggctcacagccCatcatggtgcccactgtgtc	6	8	9	18	1	2	1	2	1	0	0	3	1	2	1	4	2	2	1	4	2	0	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.684G>T	p.Met228Ile	p.M228I	ENST00000292432	7/19	306	263	43	305	304	1	strelka-varscan-mutect	HK3,missense_variant,p.Met228Ile,ENST00000292432,NM_002115.2;HK3,3_prime_UTR_variant,,ENST00000504910,;HK3,intron_variant,,ENST00000509717,;HK3,upstream_gene_variant,,ENST00000506834,;	A	ENST00000292432	Transcript	missense_variant	776/3066	684/2772	228/923	M/I	atG/atT		1		-1	HK3	HGNC	HGNC:4925	protein_coding	YES	CCDS4407.1	ENSP00000292432	P52790	A0A024R7R1	UPI000006E237	NM_002115.2	tolerated(0.19)		7/19		PROSITE_profiles:PS51748,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF1,Gene3D:3.40.367.20,Pfam_domain:PF00349,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	176889691	176889691	C	A	1	0	0	0	0	1	0	0	0	7081	594	21	2		2	HK3	5	176889691	Missense_Mutation	SNP	C	C3L-00279_TP	6855201	176889691	4648568	222	6297											
CANX	0	.	GRCh38	chr5	179719709	179719709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattccagatgaagaggccaCaaaacccgaaggctggttag	14	6	12	9	1	0	3	0	1	0	2	1	5	1	3	3	3	1	2	3	3	5	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.953C>T	p.Thr318Ile	p.T318I	ENST00000247461	9/15	206	184	22	184	184	0	strelka-varscan-mutect	CANX,missense_variant,p.Thr318Ile,ENST00000247461,NM_001746.3;CANX,missense_variant,p.Thr318Ile,ENST00000452673,NM_001024649.1;CANX,missense_variant,p.Thr318Ile,ENST00000504734,;CANX,missense_variant,p.Thr254Ile,ENST00000502673,;CANX,downstream_gene_variant,,ENST00000508787,;CANX,downstream_gene_variant,,ENST00000503126,;CANX,3_prime_UTR_variant,,ENST00000514032,;CANX,downstream_gene_variant,,ENST00000506298,;CANX,upstream_gene_variant,,ENST00000505090,;	T	ENST00000247461	Transcript	missense_variant	1153/4260	953/1779	318/592	T/I	aCa/aTa		1		1	CANX	HGNC	HGNC:1473	protein_coding	YES	CCDS4447.1	ENSP00000247461	P27824		UPI000000D9F9	NM_001746.3	tolerated(0.15)		9/15		Gene3D:2.10.250.10,Pfam_domain:PF00262,hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF11,Superfamily_domains:SSF63887																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	179719709	179719709	C	T	1	0	0	0	0	1	0	0	0	2311	478	17	3		3	CANX	5	179719709	Missense_Mutation	SNP	C	C3L-00279_TP	2830018	179719709	1818550	223	6298											
BTNL8	0	.	GRCh38	chr5	180911487	180911487	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacagactccaggacaaaCagagacatgcatggcctgtt	13	7	9	12	0	0	2	0	0	0	2	2	4	2	3	3	2	2	2	3	2	1	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.546C>T	p.=	p.N182N	ENST00000340184	3/8	367	321	46	414	414	0	strelka-varscan-mutect	BTNL8,synonymous_variant,p.=,ENST00000231229,NM_024850.2;BTNL8,synonymous_variant,p.=,ENST00000340184,NM_001040462.2;BTNL8,synonymous_variant,p.=,ENST00000508408,NM_001159708.1;BTNL8,synonymous_variant,p.=,ENST00000400707,NM_001159709.1;BTNL8,synonymous_variant,p.=,ENST00000610640,;BTNL8,synonymous_variant,p.=,ENST00000511704,NM_001159707.1;BTNL8,5_prime_UTR_variant,,ENST00000533815,NM_001159710.1;BTNL8,5_prime_UTR_variant,,ENST00000505126,;Y_RNA,downstream_gene_variant,,ENST00000410920,;BTNL8,non_coding_transcript_exon_variant,,ENST00000514448,;BTNL8,non_coding_transcript_exon_variant,,ENST00000513442,;BTNL8,upstream_gene_variant,,ENST00000503543,;	T	ENST00000340184	Transcript	synonymous_variant	752/2071	546/1503	182/500	N	aaC/aaT		1		1	BTNL8	HGNC	HGNC:26131	protein_coding	YES	CCDS43413.1	ENSP00000342197	Q6UX41		UPI00000389ED	NM_001040462.2			3/8		PROSITE_profiles:PS50835,hmmpanther:PTHR24100:SF73,hmmpanther:PTHR24100,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	180911487	180911487	C	T	1	0	0	0	0	0	0	0	1	1743	477	17	3		3	BTNL8	5	180911487	Silent	SNP	C	C3L-00279_TP	1191778	180911487	626772	224	6299											
OR2V2	0	.	GRCh38	chr5	181155804	181155804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttactcccatgctcaacCccctcatttacagcttgagg	8	12	5	16	0	2	1	2	1	0	0	4	1	4	1	4	1	5	2	4	1	3	4			C3L-00279_TP	C3L-00279_NB	C	C																c.862C>A	p.Pro288Thr	p.P288T	ENST00000328275	1/1	224	197	27	185	185	0	strelka-varscan-mutect	OR2V2,missense_variant,p.Pro288Thr,ENST00000328275,NM_206880.1;	A	ENST00000328275	Transcript	missense_variant	862/948	862/948	288/315	P/T	Ccc/Acc	COSM3615039,COSM4422191	1		1	OR2V2	HGNC	HGNC:15341	protein_coding	YES	CCDS4461.1	ENSP00000332185	Q96R30		UPI0000041C79	NM_206880.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF235,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1,1						MODERATE	1	SNV			1,1	1										PASS		.	.												A	3	1	14	181155804	181155804	C	A	1	0	0	0	0	1	0	0	0	11109	623	22	2		2	OR2V2	5	181155804	Missense_Mutation	SNP	C	C3L-00279_TP	244317	181155804	382455	225	6300											
EXOC2	0	.	GRCh38	chr6	633079	633079	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacttgcagacatccattCtgccgtcaggaggcaattat	10	13	8	10	1	2	1	1	0	1	1	3	2	3	2	2	2	3	2	2	2	3	5	rs551076085		C3L-00279_TP	C3L-00279_NB	C	C																c.157G>T	p.Glu53Ter	p.E53*	ENST00000230449	3/28	227	188	39	119	119	0	strelka-varscan-mutect	EXOC2,stop_gained,p.Glu53Ter,ENST00000230449,NM_018303.5;EXOC2,stop_gained,p.Glu53Ter,ENST00000443083,;	A	ENST00000230449	Transcript	stop_gained	293/4449	157/2775	53/924	E/*	Gaa/Taa	rs551076085	1		-1	EXOC2	HGNC	HGNC:24968	protein_coding	YES	CCDS34327.1	ENSP00000230449	Q96KP1	A0A024QZT2	UPI000003E7E3	NM_018303.5			3/28		hmmpanther:PTHR13043,Pfam_domain:PF01833,Gene3D:2.60.40.10,Superfamily_domains:SSF81296																	HIGH	1	SNV	1			1										PASS		rs551076085	.												A	4	1	14	633079	633079	C	A	1	0	0	0	0	0	1	0	0	5169	922	32	2		2	EXOC2	6	633079	Nonsense_Mutation	SNP	C	C3L-00279_TP		633079	170172900	226	6301											
ECI2	0	.	GRCh38	chr6	4117416	4117416	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcacatgcctctcccgcTgttaacttctttccaaaaat	10	13	5	13	1	2	1	0	1	2	0	4	1	3	1	3	0	3	3	3	0	3	3	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.921A>T	p.=	p.T307T	ENST00000380118	9/10	199	170	29	111	111	0	strelka-varscan-mutect	ECI2,synonymous_variant,p.=,ENST00000465828,;ECI2,synonymous_variant,p.=,ENST00000380118,NM_206836.2;ECI2,synonymous_variant,p.=,ENST00000380125,NM_001166010.1;ECI2,synonymous_variant,p.=,ENST00000361538,NM_006117.2;C6orf201,intron_variant,,ENST00000380175,NM_001085401.2;C6orf201,downstream_gene_variant,,ENST00000360378,;C6orf201,upstream_gene_variant,,ENST00000496987,;ECI2,3_prime_UTR_variant,,ENST00000380120,;ECI2,3_prime_UTR_variant,,ENST00000496241,;ECI2,3_prime_UTR_variant,,ENST00000478266,;ECI2,non_coding_transcript_exon_variant,,ENST00000464583,;ECI2,non_coding_transcript_exon_variant,,ENST00000464057,;C6orf201,intron_variant,,ENST00000436110,;C6orf201,intron_variant,,ENST00000427996,;C6orf201,intron_variant,,ENST00000451679,;	A	ENST00000380118	Transcript	synonymous_variant	958/1407	921/1185	307/394	T	acA/acT		1		-1	ECI2	HGNC	HGNC:14601	protein_coding	YES	CCDS43420.2	ENSP00000369461	O75521		UPI000004ECA9	NM_206836.2			9/10		hmmpanther:PTHR23310:SF72,hmmpanther:PTHR23310,Gene3D:3.90.226.10,Pfam_domain:PF00378,Superfamily_domains:SSF52096																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	4117416	4117416	T	A	1	0	0	0	0	0	0	0	1	4724	1567	55	4		4	ECI2	6	4117416	Silent	SNP	T	C3L-00279_TP	3484337	4117416	166688563	227	6302											
RPP40	0	.	GRCh38	chr6	4995261	4995261	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccatggagctaacttcggTtcatcaaagtagtgactgaa	13	10	9	9	1	2	2	2	2	0	0	3	3	2	3	1	2	2	3	1	2	4	4	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.909A>C	p.Glu303Asp	p.E303D	ENST00000380051	8/8	238	213	25	127	127	0	strelka-varscan-mutect	RPP40,missense_variant,p.Glu303Asp,ENST00000380051,NM_006638.3;RPP40,missense_variant,p.Glu280Asp,ENST00000319533,NM_001286132.1;RPP40,missense_variant,p.Glu261Asp,ENST00000618533,NM_001286133.1;RPP40,missense_variant,p.Glu243Asp,ENST00000464646,;RPP40,downstream_gene_variant,,ENST00000468105,;RPP40,downstream_gene_variant,,ENST00000479782,;	G	ENST00000380051	Transcript	missense_variant	954/1483	909/1092	303/363	E/D	gaA/gaC		1		-1	RPP40	HGNC	HGNC:20992	protein_coding	YES	CCDS34333.1	ENSP00000369391	O75818		UPI000020E473	NM_006638.3	tolerated(0.08)		8/8		Pfam_domain:PF08584,hmmpanther:PTHR15396,hmmpanther:PTHR15396:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	14	4995261	4995261	T	G	1	0	0	0	0	1	0	0	0	13868	1722	60	5		5	RPP40	6	4995261	Missense_Mutation	SNP	T	C3L-00279_TP	877845	4995261	165810718	228	6303											
SLC17A1	0	.	GRCh38	chr6	25819865	25819865	+	Silent	SNP	G	G	C																															atgatgacaccataggaggtGgaactcaagatgattccctg																										C3L-00279_TP	C3L-00279_NB	G	G																c.258C>G	p.=	p.S86S	ENST00000244527	4/13	119	95	24	99	99	0	strelka-varscan-mutect	SLC17A1,synonymous_variant,p.=,ENST00000244527,NM_005074.3;SLC17A1,synonymous_variant,p.=,ENST00000476801,;SLC17A1,synonymous_variant,p.=,ENST00000468082,;SLC17A1,synonymous_variant,p.=,ENST00000377886,;	C	ENST00000244527	Transcript	synonymous_variant	374/1844	258/1404	86/467	S	tcC/tcG	COSM1545844	1		-1	SLC17A1	HGNC	HGNC:10929	protein_coding	YES	CCDS4565.1	ENSP00000244527	Q14916		UPI00000719C0	NM_005074.3			4/13		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF26,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00894,Transmembrane_helices:TMhelix											1						LOW	1	SNV	5		1	1										PASS		.	.												C	2	2	14	25819865	25819865	G	C	1	0	0	0	0	0	0	0	1	14681	1335	47	4		4	SLC17A1	6	25819865	Silent	SNP	G	C3L-00279_TP	20824604	25819865	144986114	229	6304	146	2									
SLC17A1	0	.	GRCh38	chr6	25819866	25819866	+	Missense_Mutation	SNP	G	G	T																															tgatgacaccataggaggtgGaactcaagatgattccctgg																								novel		C3L-00279_TP	C3L-00279_NB	G	G																c.257C>A	p.Ser86Tyr	p.S86Y	ENST00000244527	4/13	117	93	24	99	99	0	strelka-varscan-mutect	SLC17A1,missense_variant,p.Ser86Tyr,ENST00000244527,NM_005074.3;SLC17A1,missense_variant,p.Ser86Tyr,ENST00000476801,;SLC17A1,missense_variant,p.Ser86Tyr,ENST00000468082,;SLC17A1,missense_variant,p.Ser86Tyr,ENST00000377886,;	T	ENST00000244527	Transcript	missense_variant	373/1844	257/1404	86/467	S/Y	tCc/tAc		1		-1	SLC17A1	HGNC	HGNC:10929	protein_coding	YES	CCDS4565.1	ENSP00000244527	Q14916		UPI00000719C0	NM_005074.3	deleterious(0)		4/13		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF26,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00894,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	25819866	25819866	G	T	1	0	0	0	0	1	0	0	0	14681	1174	41	2		2	SLC17A1	6	25819866	Missense_Mutation	SNP	G	C3L-00279_TP	1	25819866	144986113	230	6305	146	2									
TRIM39	0	.	GRCh38	chr6	30341991	30341991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagactggctactggcGggtgcggctatggaatgggg	6	8	18	9	2	0	1	0	1	0	1	0	3	0	2	1	7	2	2	1	7	3	2			C3L-00279_TP	C3L-00279_NB	G	G																c.1289G>T	p.Arg430Leu	p.R430L	ENST00000376656	9/9	349	267	82	282	282	0	strelka-varscan-mutect	TRIM39,missense_variant,p.Arg400Leu,ENST00000376659,NM_172016.2;TRIM39,missense_variant,p.Arg430Leu,ENST00000376656,NM_021253.3;TRIM39,missense_variant,p.Arg400Leu,ENST00000396551,;TRIM39,missense_variant,p.Arg400Leu,ENST00000396548,;TRIM39,missense_variant,p.Arg430Leu,ENST00000396547,;TRIM39-RPP21,intron_variant,,ENST00000623385,NM_001199119.1;TRIM39,downstream_gene_variant,,ENST00000420746,;RPP21,upstream_gene_variant,,ENST00000428040,;RPP21,upstream_gene_variant,,ENST00000433076,NM_001199120.1;RPP21,upstream_gene_variant,,ENST00000442966,NM_024839.2;RPP21,upstream_gene_variant,,ENST00000436442,NM_001199121.1;RPP21,upstream_gene_variant,,ENST00000466327,;RPP21,upstream_gene_variant,,ENST00000491477,;RPP21,upstream_gene_variant,,ENST00000489124,;RPP21,upstream_gene_variant,,ENST00000498414,;RPP21,upstream_gene_variant,,ENST00000473266,;	T	ENST00000376656	Transcript	missense_variant	1601/3338	1289/1557	430/518	R/L	cGg/cTg	COSM4654074,COSM4654075,COSM4654076	1		1	TRIM39	HGNC	HGNC:10065	protein_coding	YES	CCDS34377.1	ENSP00000365844	Q9HCM9	A0A024RCP5	UPI000013D097	NM_021253.3	tolerated(0.32)		9/9		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF368,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899											1,1,1						MODERATE	1	SNV	2		1,1,1	1										PASS		.	.												T	3	4	14	30341991	30341991	G	T	1	0	0	0	0	1	0	0	0	17002	1116	39	1		1	TRIM39	6	30341991	Missense_Mutation	SNP	G	C3L-00279_TP	4522125	30341991	140463988	231	6306											
BTNL2	0	.	GRCh38	chr6	32403065	32403065	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacaggccatctttatcttgGatgcgatgctcagacacggc	10	10	10	11	2	3	1	1	0	2	1	3	3	3	2	1	3	3	1	1	3	2	3			C3L-00279_TP	C3L-00279_NB	G	G																c.579C>A	p.=	p.I193I	ENST00000454136	3/7	588	471	117	529	529	0	strelka-varscan-mutect	BTNL2,synonymous_variant,p.=,ENST00000454136,NM_001304561.1;BTNL2,synonymous_variant,p.=,ENST00000374993,;BTNL2,intron_variant,,ENST00000544175,;BTNL2,downstream_gene_variant,,ENST00000446536,;BTNL2,intron_variant,,ENST00000465865,;	T	ENST00000454136	Transcript	synonymous_variant	584/1460	579/1449	193/482	I	atC/atA	COSM5259998,COSM5259999	1		-1	BTNL2	HGNC	HGNC:1142	protein_coding	YES	CCDS78126.1	ENSP00000390613		F8WBA1	UPI0001B79374	NM_001304561.1			3/7		PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF15,Gene3D:2.60.40.10,SMART_domains:SM00407,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												T	2	4	14	32403065	32403065	G	T	1	0	0	0	0	0	0	0	1	1741	1164	41	2		2	BTNL2	6	32403065	Silent	SNP	G	C3L-00279_TP	2061074	32403065	138402914	232	6307											
ADGRF1	0	.	GRCh38	chr6	47009842	47009842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaaacacacaatgaggCtggctcaggtttgactctat	12	10	8	11	0	2	2	1	2	1	0	3	2	3	2	1	3	1	3	1	3	4	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1593G>T	p.Gln531His	p.Q531H	ENST00000371253	11/15	215	172	43	178	178	0	strelka-varscan-mutect	ADGRF1,missense_variant,p.Gln531His,ENST00000371253,NM_153840.3;ADGRF1,missense_variant,p.Gln334His,ENST00000283297,;ADGRF1,non_coding_transcript_exon_variant,,ENST00000449332,;ADGRF1,non_coding_transcript_exon_variant,,ENST00000419892,;ADGRF1,downstream_gene_variant,,ENST00000471487,;ADGRF1,downstream_gene_variant,,ENST00000475745,;	A	ENST00000371253	Transcript	missense_variant	1809/5468	1593/2733	531/910	Q/H	caG/caT		1		-1	ADGRF1	HGNC	HGNC:18990	protein_coding	YES	CCDS34471.1	ENSP00000360299	Q5T601		UPI00000474ED	NM_153840.3	deleterious(0.05)		11/15		PROSITE_profiles:PS50221,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF310,SMART_domains:SM00303																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	47009842	47009842	C	A	1	0	0	0	0	1	0	0	0	363	796	28	2		2	ADGRF1	6	47009842	Missense_Mutation	SNP	C	C3L-00279_TP	14606777	47009842	123796137	233	6308											
PKHD1	0	.	GRCh38	chr6	52056759	52056759	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttccagtttgcattttacTgcaagtaactcctcaatggt	9	15	8	9	0	1	0	1	0	0	0	3	0	3	0	2	2	4	5	2	2	4	5	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.1632A>T	p.=	p.A544A	ENST00000371117	18/67	552	464	88	427	426	1	strelka-varscan-mutect	PKHD1,synonymous_variant,p.=,ENST00000371117,NM_138694.3;PKHD1,synonymous_variant,p.=,ENST00000340994,NM_170724.2;	A	ENST00000371117	Transcript	synonymous_variant	1908/16282	1632/12225	544/4074	A	gcA/gcT		1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3			18/67																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	52056759	52056759	T	A	1	0	0	0	0	0	0	0	1	12067	1567	55	4		4	PKHD1	6	52056759	Silent	SNP	T	C3L-00279_TP	5046917	52056759	118749220	234	6309											
EYS	0	.	GRCh38	chr6	64813504	64813504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcaccagtgtatccacgtGggcaaatgcaagtaaatcca	14	8	9	10	1	0	0	0	0	0	0	2	0	2	0	3	1	2	5	3	1	5	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.3317C>A	p.Pro1106Gln	p.P1106Q	ENST00000370621	22/44	257	223	34	154	154	0	strelka-varscan-mutect	EYS,missense_variant,p.Pro1106Gln,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Pro1106Gln,ENST00000370621,NM_001292009.1;	T	ENST00000370621	Transcript	missense_variant	3844/10485	3317/9498	1106/3165	P/Q	cCa/cAa		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	tolerated(0.52)		22/44		Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	64813504	64813504	G	T	1	0	0	0	0	1	0	0	0	5200	1348	47	2		2	EYS	6	64813504	Missense_Mutation	SNP	G	C3L-00279_TP	12756745	64813504	105992475	235	6310											
EYS	0	.	GRCh38	chr6	65405292	65405292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcataagtataagcagaaCtgctatttgggcaaattcct	14	13	7	7	0	1	1	1	0	0	1	2	1	2	1	1	1	3	4	1	1	6	7	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.938G>A	p.Ser313Asn	p.S313N	ENST00000370621	6/44	251	221	30	85	85	0	strelka-varscan-mutect	EYS,missense_variant,p.Ser313Asn,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Ser313Asn,ENST00000370621,NM_001292009.1;EYS,missense_variant,p.Ser313Asn,ENST00000393380,NM_001142801.1;EYS,missense_variant,p.Ser313Asn,ENST00000342421,NM_198283.1;	T	ENST00000370621	Transcript	missense_variant	1465/10485	938/9498	313/3165	S/N	aGt/aAt		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	tolerated(0.49)		6/44		hmmpanther:PTHR24033																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	65405292	65405292	C	T	1	0	0	0	0	1	0	0	0	5200	565	20	3		3	EYS	6	65405292	Missense_Mutation	SNP	C	C3L-00279_TP	591788	65405292	105400687	236	6311											
COL9A1	0	.	GRCh38	chr6	70294385	70294385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttggagacttccatccaGtcccttgtatgaaaatacaa	12	13	7	9	0	0	2	0	1	0	1	3	3	3	2	3	1	1	2	3	1	5	5	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.478C>A	p.Leu160Met	p.L160M	ENST00000357250	5/38	437	388	49	283	283	0	strelka-varscan-mutect	COL9A1,missense_variant,p.Leu160Met,ENST00000357250,NM_001851.4;COL9A1,missense_variant,p.Leu160Met,ENST00000370496,;	T	ENST00000357250	Transcript	missense_variant	637/4761	478/2766	160/921	L/M	Ctg/Atg		1		-1	COL9A1	HGNC	HGNC:2217	protein_coding	YES	CCDS4971.1	ENSP00000349790	P20849		UPI000020D14B	NM_001851.4			5/38		Gene3D:2.60.120.200,SMART_domains:SM00210,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	70294385	70294385	G	T	1	0	0	0	0	1	0	0	0	3496	1020	36	2		2	COL9A1	6	70294385	Missense_Mutation	SNP	G	C3L-00279_TP	4889093	70294385	100511594	237	6312											
KHDC1L	0	.	GRCh38	chr6	73223784	73223784	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggcaggctaacggaggtGaccaggtcatcattggtcag	9	8	16	8	1	3	1	3	1	0	0	3	2	3	2	1	7	1	2	1	7	1	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.351C>T	p.=	p.V117V	ENST00000370388	3/3	231	209	22	227	227	0	strelka-varscan-mutect	KHDC1L,synonymous_variant,p.=,ENST00000370388,NM_001126063.2;KHDC1L,downstream_gene_variant,,ENST00000471312,;RP11-257K9.8,3_prime_UTR_variant,,ENST00000423730,;	A	ENST00000370388	Transcript	synonymous_variant	395/635	351/387	117/128	V	gtC/gtT		1		-1	KHDC1L	HGNC	HGNC:37274	protein_coding	YES	CCDS47450.1	ENSP00000359415	Q5JSQ8		UPI0000070CED	NM_001126063.2			3/3		hmmpanther:PTHR31368,hmmpanther:PTHR31368:SF5																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	73223784	73223784	G	A	1	0	0	0	0	0	0	0	1	8065	1277	45	3		3	KHDC1L	6	73223784	Silent	SNP	G	C3L-00279_TP	2929399	73223784	97582195	238	6313											
COL12A1	0	.	GRCh38	chr6	75134823	75134823	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctggcttcagtttctgcagGaccacactgttctgccgtcc	5	13	9	14	1	4	0	1	0	3	0	5	1	5	1	3	2	2	4	3	2	0	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.5427C>A	p.=	p.V1809V	ENST00000322507	32/66	207	190	17	158	158	0	strelka-varscan-mutect	COL12A1,synonymous_variant,p.=,ENST00000322507,NM_004370.5;COL12A1,synonymous_variant,p.=,ENST00000615798,;COL12A1,synonymous_variant,p.=,ENST00000483888,;COL12A1,synonymous_variant,p.=,ENST00000416123,;COL12A1,synonymous_variant,p.=,ENST00000345356,NM_080645.2;COL12A1,synonymous_variant,p.=,ENST00000419671,;	T	ENST00000322507	Transcript	synonymous_variant	5737/11723	5427/9192	1809/3063	V	gtC/gtA		1		-1	COL12A1	HGNC	HGNC:2188	protein_coding	YES	CCDS43482.1	ENSP00000325146	Q99715		UPI000045890B	NM_004370.5			32/66		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		rs1452235912	.												T	2	4	14	75134823	75134823	G	T	1	0	0	0	0	0	0	0	1	3457	1161	41	2		2	COL12A1	6	75134823	Silent	SNP	G	C3L-00279_TP	1911039	75134823	95671156	239	6314											
SENP6	0	.	GRCh38	chr6	75695825	75695825	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttggtgcttgaaaaactGaagaaggaagacgctgaccg	14	8	12	7	2	0	5	0	3	0	2	0	6	0	6	1	2	3	2	1	2	6	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2097G>A	p.=	p.L699L	ENST00000447266	17/24	67	61	6	34	34	0	strelka-mutect	SENP6,synonymous_variant,p.=,ENST00000447266,NM_015571.3;SENP6,synonymous_variant,p.=,ENST00000370010,NM_001100409.2;SENP6,synonymous_variant,p.=,ENST00000503501,;SENP6,non_coding_transcript_exon_variant,,ENST00000474906,;	A	ENST00000447266	Transcript	synonymous_variant	2575/6501	2097/3339	699/1112	L	ctG/ctA		1		1	SENP6	HGNC	HGNC:20944	protein_coding	YES	CCDS47454.1	ENSP00000402527	Q9GZR1		UPI0000141B65	NM_015571.3			17/24		Pfam_domain:PF02902,PROSITE_profiles:PS50600,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF350,Low_complexity_(Seg):seg,Superfamily_domains:SSF54001																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	75695825	75695825	G	A	1	0	0	0	0	0	0	0	1	14326	1277	45	3		3	SENP6	6	75695825	Silent	SNP	G	C3L-00279_TP	561002	75695825	95110154	240	6315											
PHIP	0	.	GRCh38	chr6	79016554	79016554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcttaccctgctggacGagtagccatatccaacaaaa	13	8	7	13	1	1	0	0	0	1	0	2	3	2	1	4	1	4	2	4	1	6	3			C3L-00279_TP	C3L-00279_NB	G	G																c.1225C>A	p.Arg409Ser	p.R409S	ENST00000275034	13/40	140	121	19	99	98	1	strelka-varscan-mutect	PHIP,missense_variant,p.Arg409Ser,ENST00000275034,NM_017934.5;	T	ENST00000275034	Transcript	missense_variant	1393/10460	1225/5466	409/1821	R/S	Cgt/Agt	COSM5032130	1		-1	PHIP	HGNC	HGNC:15673	protein_coding	YES	CCDS4987.1	ENSP00000275034	Q8WWQ0		UPI000013DA40	NM_017934.5	deleterious(0.01)		13/40		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF4,SMART_domains:SM00320,Superfamily_domains:SSF50978											1						MODERATE	1	SNV	1		1	1										PASS		rs1486010928	.												T	3	4	14	79016554	79016554	G	T	1	0	0	0	0	1	0	0	0	11930	1058	37	1		1	PHIP	6	79016554	Missense_Mutation	SNP	G	C3L-00279_TP	3320729	79016554	91789425	241	6316											
ANKRD6	0	.	GRCh38	chr6	89595970	89595970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccatcttcctgtggtcCagatcttgctgaaggctggc	6	11	13	11	0	2	2	0	1	2	1	4	2	4	2	3	4	1	2	3	4	1	2	rs765628094		C3L-00279_TP	C3L-00279_NB	C	C																c.175C>A	p.Gln59Lys	p.Q59K	ENST00000522441	3/16	319	288	31	339	339	0	strelka-varscan-mutect	ANKRD6,missense_variant,p.Gln59Lys,ENST00000369408,NM_001242813.1;ANKRD6,missense_variant,p.Gln59Lys,ENST00000522441,NM_001242811.1;ANKRD6,missense_variant,p.Gln59Lys,ENST00000339746,NM_001242809.1;ANKRD6,missense_variant,p.Gln59Lys,ENST00000447838,NM_014942.4;ANKRD6,missense_variant,p.Gln59Lys,ENST00000520793,NM_001242814.1;ANKRD6,missense_variant,p.Gln59Lys,ENST00000485637,;ANKRD6,missense_variant,p.Gln59Lys,ENST00000465722,;ANKRD6,missense_variant,p.Gln59Lys,ENST00000522705,;ANKRD6,missense_variant,p.Gln59Lys,ENST00000523798,;ANKRD6,missense_variant,p.Gln59Lys,ENST00000520458,;ANKRD6,intron_variant,,ENST00000518150,;LYRM2,intron_variant,,ENST00000626778,;ANKRD6,intron_variant,,ENST00000522779,;ANKRD6,non_coding_transcript_exon_variant,,ENST00000520886,;LYRM2,intron_variant,,ENST00000520897,;	A	ENST00000522441	Transcript	missense_variant	816/3157	175/2184	59/727	Q/K	Cag/Aag	rs765628094	1		1	ANKRD6	HGNC	HGNC:17280	protein_coding	YES	CCDS56441.1	ENSP00000430985	Q9Y2G4		UPI000020D325	NM_001242811.1	tolerated(0.09)		3/16		Gene3D:1.25.40.20,Pfam_domain:PF13857,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24203,hmmpanther:PTHR24203:SF7,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	2			1										PASS		rs765628094	.												A	3	1	14	89595970	89595970	C	A	1	0	0	0	0	1	0	0	0	786	595	21	2		2	ANKRD6	6	89595970	Missense_Mutation	SNP	C	C3L-00279_TP	10579416	89595970	81210009	242	6317											
SNX3	0	.	GRCh38	chr6	108214609	108214609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaacgctttcccagggagcGggggaactacgacctaaaat	14	6	11	10	3	0	0	0	0	0	0	1	3	1	2	2	3	4	1	2	3	6	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.272C>A	p.Pro91Gln	p.P91Q	ENST00000230085	3/4	146	126	20	141	141	0	strelka-varscan-mutect	SNX3,missense_variant,p.Pro91Gln,ENST00000230085,NM_003795.5;SNX3,missense_variant,p.Pro59Gln,ENST00000426155,NM_152827.3;SNX3,missense_variant,p.Pro69Gln,ENST00000349379,NM_001300929.1;SNX3,3_prime_UTR_variant,,ENST00000368979,;	T	ENST00000230085	Transcript	missense_variant	611/1755	272/489	91/162	P/Q	cCg/cAg		1		-1	SNX3	HGNC	HGNC:11174	protein_coding	YES	CCDS5064.1	ENSP00000230085	O60493		UPI00000013A7	NM_003795.5	deleterious(0.04)		3/4		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF145,SMART_domains:SM00312,Superfamily_domains:SSF64268																	MODERATE	1	SNV	1			1										PASS		rs923109909	.												T	3	4	14	108214609	108214609	G	T	1	0	0	0	0	1	0	0	0	15220	1116	39	1		1	SNX3	6	108214609	Missense_Mutation	SNP	G	C3L-00279_TP	18618639	108214609	62591370	243	6318											
LACE1	0	.	GRCh38	chr6	108324019	108324019	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaggaccttaaaggatacAatatagaggcagaaggcctt	16	7	11	7	1	0	2	0	0	0	2	0	5	0	4	2	4	1	1	2	4	7	5	rs376944723		C3L-00279_TP	C3L-00279_NB	A	A																c.334A>T	p.Asn112Tyr	p.N112Y	ENST00000368977	2/13	222	201	21	124	124	0	strelka-varscan-mutect	LACE1,missense_variant,p.Asn112Tyr,ENST00000368977,NM_145315.3;LACE1,missense_variant,p.Asn79Tyr,ENST00000437715,;LACE1,intron_variant,,ENST00000421954,;LACE1,non_coding_transcript_exon_variant,,ENST00000430458,;	T	ENST00000368977	Transcript	missense_variant	520/5208	334/1446	112/481	N/Y	Aat/Tat	rs376944723	1		1	LACE1	HGNC	HGNC:16411	protein_coding	YES	CCDS5067.1	ENSP00000357973	Q8WV93		UPI0000072226	NM_145315.3	deleterious(0.01)		2/13		Pfam_domain:PF03969,hmmpanther:PTHR12169,hmmpanther:PTHR12169:SF6																	MODERATE	1	SNV	1			1										PASS		rs376944723	.												T	3	4	14	108324019	108324019	A	T	1	0	0	0	0	1	0	0	0	8498	130	5	4		4	LACE1	6	108324019	Missense_Mutation	SNP	A	C3L-00279_TP	109410	108324019	62481960	244	6319											
DSE	0	.	GRCh38	chr6	116436083	116436083	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggggtggttttcatccgaGgagaaggtgtgggagcttat	8	12	17	4	1	1	1	1	0	0	1	2	4	2	2	1	6	1	2	1	6	2	3			C3L-00279_TP	C3L-00279_NB	G	G																c.1615G>T	p.Gly539Ter	p.G539*	ENST00000452085	6/6	243	221	22	179	179	0	strelka-varscan-mutect	DSE,stop_gained,p.Gly539Ter,ENST00000452085,NM_001080976.1;DSE,stop_gained,p.Gly539Ter,ENST00000331677,;DSE,stop_gained,p.Gly539Ter,ENST00000359564,NM_013352.2;DSE,non_coding_transcript_exon_variant,,ENST00000606712,;	T	ENST00000452085	Transcript	stop_gained	1809/10586	1615/2877	539/958	G/*	Gga/Tga	COSM5555697	1		1	DSE	HGNC	HGNC:21144	protein_coding	YES	CCDS5107.1	ENSP00000404049	Q9UL01		UPI0000073CB8	NM_001080976.1			6/6		hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF3											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	14	116436083	116436083	G	T	1	0	0	0	0	0	1	0	0	4595	1001	35	2		2	DSE	6	116436083	Nonsense_Mutation	SNP	G	C3L-00279_TP	8112064	116436083	54369896	245	6320											
GJA1	0	.	GRCh38	chr6	121447683	121447683	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaaccgctcccctctCgcctatgtctcctcctgggt	4	11	6	20	2	3	0	1	0	2	0	7	0	5	0	7	1	1	1	7	1	2	1			C3L-00279_TP	C3L-00279_NB	C	C																c.836C>A	p.Ser279Ter	p.S279*	ENST00000282561	2/2	663	591	72	587	584	3	strelka-varscan-mutect	GJA1,stop_gained,p.Ser279Ter,ENST00000282561,NM_000165.4;	A	ENST00000282561	Transcript	stop_gained	993/3037	836/1149	279/382	S/*	tCg/tAg	COSM168629	1		1	GJA1	HGNC	HGNC:4274	protein_coding	YES	CCDS5123.1	ENSP00000282561	P17302		UPI000013DCEC	NM_000165.4			2/2		hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF33,Superfamily_domains:0049114											1						HIGH	1	SNV	1		1	1										PASS		rs1265740574	.												A	4	1	14	121447683	121447683	C	A	1	0	0	0	0	0	1	0	0	6280	893	31	1		1	GJA1	6	121447683	Nonsense_Mutation	SNP	C	C3L-00279_TP	5011600	121447683	49358296	246	6321											
HDDC2	0	.	GRCh38	chr6	125292880	125292880	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctttctgaggtcctctggTaggagctgggttatctgctt	4	16	12	9	0	3	1	0	1	3	0	5	2	5	2	2	4	2	4	2	4	2	4	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.339A>T	p.=	p.L113L	ENST00000398153	4/6	339	309	30	118	118	0	strelka-varscan-mutect	HDDC2,synonymous_variant,p.=,ENST00000398153,NM_016063.2;HDDC2,intron_variant,,ENST00000608295,;HDDC2,downstream_gene_variant,,ENST00000608284,;HDDC2,3_prime_UTR_variant,,ENST00000318787,;HDDC2,3_prime_UTR_variant,,ENST00000609477,;HDDC2,non_coding_transcript_exon_variant,,ENST00000608461,;HDDC2,non_coding_transcript_exon_variant,,ENST00000608532,;	A	ENST00000398153	Transcript	synonymous_variant	382/918	339/615	113/204	L	ctA/ctT		1		-1	HDDC2	HGNC	HGNC:21078	protein_coding	YES	CCDS43503.1	ENSP00000381220	Q7Z4H3	A0A140VJK7	UPI0000070B81	NM_016063.2			4/6		Gene3D:1.10.3210.10,Pfam_domain:PF13023,hmmpanther:PTHR11845,SMART_domains:SM00471,Superfamily_domains:SSF109604																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	125292880	125292880	T	A	1	0	0	0	0	0	0	0	1	6903	1625	57	4		4	HDDC2	6	125292880	Silent	SNP	T	C3L-00279_TP	3845197	125292880	45513099	247	6322											
EPB41L2	0	.	GRCh38	chr6	130901049	130901049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attcactgaggtcgatgctgCcatgttcttctgggtcatag	7	14	11	9	1	4	1	2	1	2	0	5	2	4	1	1	2	2	2	1	2	1	4	rs778911472		C3L-00279_TP	C3L-00279_NB	C	C																c.1061G>T	p.Gly354Val	p.G354V	ENST00000337057	7/20	346	322	24	299	299	0	strelka-varscan-mutect	EPB41L2,missense_variant,p.Gly354Val,ENST00000337057,NM_001431.3;EPB41L2,missense_variant,p.Gly354Val,ENST00000368128,;EPB41L2,missense_variant,p.Gly354Val,ENST00000628542,;EPB41L2,missense_variant,p.Gly354Val,ENST00000527411,;EPB41L2,missense_variant,p.Gly354Val,ENST00000530481,NM_001199388.2;EPB41L2,missense_variant,p.Gly354Val,ENST00000445890,;EPB41L2,missense_variant,p.Gly354Val,ENST00000528282,NM_001252660.1;EPB41L2,missense_variant,p.Gly354Val,ENST00000392427,NM_001135554.1,NM_001135555.3;EPB41L2,missense_variant,p.Gly354Val,ENST00000529208,;EPB41L2,missense_variant,p.Gly354Val,ENST00000525271,;EPB41L2,missense_variant,p.Gly354Val,ENST00000527659,;EPB41L2,missense_variant,p.Gly354Val,ENST00000525193,;EPB41L2,non_coding_transcript_exon_variant,,ENST00000530148,;EPB41L2,non_coding_transcript_exon_variant,,ENST00000528179,;EPB41L2,non_coding_transcript_exon_variant,,ENST00000526333,;	A	ENST00000337057	Transcript	missense_variant	1243/4457	1061/3018	354/1005	G/V	gGc/gTc	rs778911472,COSM3829032	1		-1	EPB41L2	HGNC	HGNC:3379	protein_coding	YES	CCDS5141.1	ENSP00000338481	O43491		UPI0000129AF9	NM_001431.3	deleterious(0.02)		7/20		Gene3D:1.20.80.10,Pfam_domain:PF00373,PIRSF_domain:PIRSF002304,PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF17,SMART_domains:SM00295,Superfamily_domains:SSF47031											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs778911472	.												A	3	1	14	130901049	130901049	C	A	1	0	0	0	0	1	0	0	0	5000	739	26	2		2	EPB41L2	6	130901049	Missense_Mutation	SNP	C	C3L-00279_TP	5608169	130901049	39904930	248	6323											
SLC18B1	0	.	GRCh38	chr6	132779283	132779283	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaccttctccaaaacaaaGagagacagagtaggatcgag	16	7	9	9	1	1	3	0	0	1	3	3	6	1	4	2	1	2	1	2	1	5	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.780C>G	p.=	p.L260L	ENST00000275227	7/14	221	206	15	172	172	0	strelka-varscan-mutect	SLC18B1,synonymous_variant,p.=,ENST00000275227,NM_052831.2;SLC18B1,intron_variant,,ENST00000367918,;	C	ENST00000275227	Transcript	synonymous_variant	877/2368	780/1371	260/456	L	ctC/ctG		1		-1	SLC18B1	HGNC	HGNC:21573	protein_coding	YES	CCDS5163.1	ENSP00000275227	Q6NT16		UPI000013DA50	NM_052831.2			7/14		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR23506,hmmpanther:PTHR23506:SF2,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	14	132779283	132779283	G	C	1	0	0	0	0	0	0	0	1	14693	929	33	4		4	SLC18B1	6	132779283	Silent	SNP	G	C3L-00279_TP	1878234	132779283	38026696	249	6324											
NHSL1	0	.	GRCh38	chr6	138496259	138496259	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgagcttggcttggcggtgCaggtcctcaacacagggggg	6	9	17	9	1	1	1	1	1	0	0	2	1	2	1	1	7	3	3	1	7	1	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.315G>T	p.=	p.L105L	ENST00000427025	2/7	253	216	37	298	298	0	strelka-varscan-mutect	NHSL1,synonymous_variant,p.=,ENST00000427025,NM_020464.1;NHSL1,synonymous_variant,p.=,ENST00000343505,NM_001144060.1;NHSL1,synonymous_variant,p.=,ENST00000342260,;NHSL1,synonymous_variant,p.=,ENST00000533765,;NHSL1,synonymous_variant,p.=,ENST00000491526,;NHSL1,non_coding_transcript_exon_variant,,ENST00000479393,;NHSL1,non_coding_transcript_exon_variant,,ENST00000426841,;	A	ENST00000427025	Transcript	synonymous_variant	944/7500	315/4833	105/1610	L	ctG/ctT		1		-1	NHSL1	HGNC	HGNC:21021	protein_coding	YES	CCDS55063.1	ENSP00000394546	Q5SYE7		UPI0001750345	NM_020464.1			2/7		hmmpanther:PTHR23039:SF3,hmmpanther:PTHR23039																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	14	138496259	138496259	C	A	1	0	0	0	0	0	0	0	1	10444	697	25	2		2	NHSL1	6	138496259	Silent	SNP	C	C3L-00279_TP	5716976	138496259	32309720	250	6325											
ADGB	0	.	GRCh38	chr6	146717056	146717056	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttagattttgaagatttcTgtgtatgctttcagtaagta	10	18	10	3	0	2	3	1	1	1	2	2	3	2	3	0	1	1	5	0	1	5	8	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.1915T>A	p.Cys639Ser	p.C639S	ENST00000397944	15/36	55	48	7	29	29	0	strelka-varscan-mutect	ADGB,missense_variant,p.Cys639Ser,ENST00000397944,NM_024694.3;ADGB,missense_variant,p.Cys59Ser,ENST00000480328,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,non_coding_transcript_exon_variant,,ENST00000326929,;	A	ENST00000397944	Transcript	missense_variant	1991/5325	1915/5004	639/1667	C/S	Tgt/Agt		1		1	ADGB	HGNC	HGNC:21212	protein_coding	YES		ENSP00000381036	Q8N7X0		UPI000020E382	NM_024694.3	tolerated(0.11)		15/36		hmmpanther:PTHR10183:SF304,hmmpanther:PTHR10183,SMART_domains:SM00230																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	14	146717056	146717056	T	A	1	0	0	0	0	1	0	0	0	351	1580	55	4		4	ADGB	6	146717056	Missense_Mutation	SNP	T	C3L-00279_TP	8220797	146717056	24088923	251	6326											
TIAM2	0	.	GRCh38	chr6	155137432	155137432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacatctacagaaaccgccGagtccagcagcgagtcactc	14	5	8	14	3	2	1	1	0	1	1	4	3	3	1	3	0	5	1	3	0	3	1			C3L-00279_TP	C3L-00279_NB	G	G																c.1450G>A	p.Glu484Lys	p.E484K	ENST00000461783	7/29	321	291	30	272	272	0	strelka-varscan-mutect	TIAM2,missense_variant,p.Glu484Lys,ENST00000461783,;TIAM2,missense_variant,p.Glu484Lys,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Glu484Lys,ENST00000360366,;TIAM2,missense_variant,p.Glu484Lys,ENST00000529824,;TIAM2,missense_variant,p.Glu484Lys,ENST00000528535,;	A	ENST00000461783	Transcript	missense_variant	2723/6981	1450/5106	484/1701	E/K	Gag/Aag	COSM3622220	1		1	TIAM2	HGNC	HGNC:11806	protein_coding	YES	CCDS34558.1	ENSP00000437188	Q8IVF5		UPI00004DF8BE		deleterious(0.02)		7/29		Low_complexity_(Seg):seg,hmmpanther:PTHR22826:SF118,hmmpanther:PTHR22826											1						MODERATE	1	SNV	2		1	1										PASS		rs1031872527	.												A	3	1	14	155137432	155137432	G	A	1	0	0	0	0	1	0	0	0	16325	1059	37	1		1	TIAM2	6	155137432	Missense_Mutation	SNP	G	C3L-00279_TP	8420376	155137432	15668547	252	6327											
RSPH3	0	.	GRCh38	chr6	158999801	158999801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggttgcccagcaacccaggGttctgtctgggggcgggaac	6	7	16	12	2	2	0	0	0	2	0	2	1	2	1	2	5	4	3	2	5	2	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.176C>A	p.Thr59Asn	p.T59N	ENST00000252655	1/8	136	129	7	134	134	0	strelka-varscan-mutect	RSPH3,missense_variant,p.Thr59Asn,ENST00000252655,NM_031924.4;RSPH3,5_prime_UTR_variant,,ENST00000367069,;RSPH3,upstream_gene_variant,,ENST00000449822,;RP1-111C20.4,intron_variant,,ENST00000607391,;RP1-111C20.4,upstream_gene_variant,,ENST00000607796,;RP1-111C20.4,upstream_gene_variant,,ENST00000606470,;	T	ENST00000252655	Transcript	missense_variant	366/2175	176/1683	59/560	T/N	aCc/aAc		1		-1	RSPH3	HGNC	HGNC:21054	protein_coding	YES	CCDS5260.1	ENSP00000252655	Q86UC2		UPI000013CD78	NM_031924.4	tolerated_low_confidence(0.11)		1/8																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	158999801	158999801	G	T	1	0	0	0	0	1	0	0	0	13963	1261	44	2		2	RSPH3	6	158999801	Missense_Mutation	SNP	G	C3L-00279_TP	3862369	158999801	11806178	253	6328											
C6orf118	0	.	GRCh38	chr6	165301824	165301824	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgccatccaggagggccCcgtccaggagggcctccttt	5	7	13	16	2	0	0	0	0	0	0	3	2	3	2	7	4	1	0	7	4	0	1			C3L-00279_TP	C3L-00279_NB	C	C																c.498G>T	p.=	p.R166R	ENST00000230301	2/9	229	213	16	190	190	0	strelka-varscan-mutect	C6orf118,synonymous_variant,p.=,ENST00000230301,NM_144980.3;	A	ENST00000230301	Transcript	synonymous_variant	519/1812	498/1410	166/469	R	cgG/cgT	COSM3622741,COSM3622742	1		-1	C6orf118	HGNC	HGNC:21233	protein_coding	YES	CCDS5288.1	ENSP00000230301	Q5T5N4		UPI0000367401	NM_144980.3			2/9		Low_complexity_(Seg):seg,hmmpanther:PTHR34916											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	14	165301824	165301824	C	A	1	0	0	0	0	0	0	0	1	2115	610	22	2		2	C6orf118	6	165301824	Silent	SNP	C	C3L-00279_TP	6302023	165301824	5504155	254	6329											
PDE10A	0	.	GRCh38	chr6	165435351	165435351	+	Frame_Shift_Del	DEL	C	C	-																															cggggttttccttcctttatCccaggtggcgtgaatataca																								rs373361582		C3L-00279_TP	C3L-00279_NB	C	C																c.423delG	p.Ile142Ter	p.I142*	ENST00000539869	6/22	144	131	13	150	150	0	sindel-varindel-pindel	PDE10A,frameshift_variant,p.Ile132Ter,ENST00000366882,NM_006661.3;PDE10A,frameshift_variant,p.Ile142Ter,ENST00000539869,NM_001130690.2;	-	ENST00000539869	Transcript	frameshift_variant	479/4401	423/2370	141/789	G/X	ggG/gg	rs373361582	1		-1	PDE10A	HGNC	HGNC:8772	protein_coding	YES	CCDS47513.1	ENSP00000438284	Q9Y233		UPI000006F80E	NM_001130690.2			6/22		Gene3D:3.30.450.40,Pfam_domain:PF01590,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF111,SMART_domains:SM00065,Superfamily_domains:SSF55781																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	14	165435351	165435351	C	-	1	0	1	0	1	0	0	0	0	11718	842	30	0		0	PDE10A	6	165435351	Frame_Shift_Del	DEL	C	C3L-00279_TP	133527	165435351	5370628	255	6330											
SMOC2	0	.	GRCh38	chr6	168510018	168510018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaaggaccttcctttcccGttgtgaatttcaacgtgcca	8	12	9	12	3	1	1	1	1	0	0	3	3	3	3	4	2	2	1	4	2	3	4	rs138763725		C3L-00279_TP	C3L-00279_NB	G	G																c.188G>T	p.Arg63Leu	p.R63L	ENST00000354536	2/13	296	242	54	254	254	0	strelka-varscan-mutect	SMOC2,missense_variant,p.Arg63Leu,ENST00000354536,NM_022138.2;SMOC2,missense_variant,p.Arg63Leu,ENST00000356284,NM_001166412.1;	T	ENST00000354536	Transcript	missense_variant	408/3150	188/1374	63/457	R/L	cGt/cTt	rs138763725	1		1	SMOC2	HGNC	HGNC:20323	protein_coding	YES	CCDS5307.1	ENSP00000346537	Q9H3U7		UPI0000072A56	NM_022138.2	tolerated(0.43)		2/13		PROSITE_profiles:PS51465,hmmpanther:PTHR12352,hmmpanther:PTHR12352:SF14,Gene3D:3.30.60.30,Pfam_domain:PF07648,SMART_domains:SM00280,Superfamily_domains:SSF100895																	MODERATE	1	SNV	1			1										PASS		rs138763725	.												T	3	4	14	168510018	168510018	G	T	1	0	0	0	0	1	0	0	0	15123	1145	40	1		1	SMOC2	6	168510018	Missense_Mutation	SNP	G	C3L-00279_TP	3074667	168510018	2295961	256	6331											
ELFN1	0	.	GRCh38	chr7	1746319	1746319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaacaactgcatcgacGcgctcaagtccgagtccacc	11	7	7	16	4	3	0	3	0	0	0	6	2	5	0	3	0	3	2	3	0	3	0	rs774563944		C3L-00279_TP	C3L-00279_NB	G	G																c.1723G>T	p.Ala575Ser	p.A575S	ENST00000424383	3/3	116	101	15	115	115	0	strelka-varscan-mutect	ELFN1,missense_variant,p.Ala575Ser,ENST00000424383,;ELFN1,missense_variant,p.Ala575Ser,ENST00000561626,NM_001128636.2;ELFN1-AS1,upstream_gene_variant,,ENST00000453348,;ELFN1-AS1,upstream_gene_variant,,ENST00000415399,;	T	ENST00000424383	Transcript	missense_variant	2210/3845	1723/2487	575/828	A/S	Gcg/Tcg	rs774563944	1		1	ELFN1	HGNC	HGNC:33154	protein_coding	YES	CCDS59046.1	ENSP00000456548	P0C7U0		UPI0000251E11		deleterious(0.01)		3/3		hmmpanther:PTHR24367:SF34,hmmpanther:PTHR24367																	MODERATE		SNV	5			1										PASS		rs774563944	.												T	3	4	14	1746319	1746319	G	T	1	0	0	0	0	1	0	0	0	4891	1087	38	1		1	ELFN1	7	1746319	Missense_Mutation	SNP	G	C3L-00279_TP		1746319	157599654	257	6332											
IQCE	0	.	GRCh38	chr7	2572303	2572303	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagagtgaagaggccacAtctcaggcgctctgccagca	10	7	11	13	1	3	3	2	1	2	2	4	3	3	3	2	2	2	2	2	2	1	1	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.371A>G	p.His124Arg	p.H124R	ENST00000476665	5/21	187	169	18	167	167	0	strelka-varscan-mutect	IQCE,missense_variant,p.His124Arg,ENST00000402050,NM_152558.4;IQCE,missense_variant,p.His59Arg,ENST00000623361,NM_001287501.1,NM_001287502.1;IQCE,missense_variant,p.His124Arg,ENST00000476665,NM_001287499.1;IQCE,missense_variant,p.His108Arg,ENST00000611775,NM_001287500.1;IQCE,missense_variant,p.His59Arg,ENST00000325979,;IQCE,missense_variant,p.His108Arg,ENST00000438376,;IQCE,missense_variant,p.His73Arg,ENST00000404984,;IQCE,missense_variant,p.His124Arg,ENST00000415271,;IQCE,missense_variant,p.His59Arg,ENST00000423395,;IQCE,missense_variant,p.His59Arg,ENST00000422276,;IQCE,3_prime_UTR_variant,,ENST00000325997,;IQCE,non_coding_transcript_exon_variant,,ENST00000470731,;	G	ENST00000476665	Transcript	missense_variant	474/2400	371/2109	124/702	H/R	cAt/cGt		1		1	IQCE	HGNC	HGNC:29171	protein_coding	YES	CCDS75559.1	ENSP00000480715		A0A087WX45	UPI0000EE76A1	NM_001287499.1	tolerated(0.08)		5/21		hmmpanther:PTHR22590																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	14	2572303	2572303	A	G	1	0	0	0	0	1	0	0	0	7710	217	8	5		5	IQCE	7	2572303	Missense_Mutation	SNP	A	C3L-00279_TP	825984	2572303	156773670	258	6333											
COL28A1	0	.	GRCh38	chr7	7531583	7531583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactttcacaccatccttaCgcccttctctcttaagtagc	8	13	3	17	1	3	0	1	0	2	0	5	0	4	0	4	0	2	1	4	0	3	5	rs371960243		C3L-00279_TP	C3L-00279_NB	C	C																c.446G>A	p.Arg149His	p.R149H	ENST00000399429	3/35	155	135	20	99	98	1	strelka-varscan-mutect	COL28A1,missense_variant,p.Arg149His,ENST00000399429,NM_001037763.2;	T	ENST00000399429	Transcript	missense_variant	587/4277	446/3378	149/1125	R/H	cGt/cAt	rs371960243,COSM1284227	1		-1	COL28A1	HGNC	HGNC:22442	protein_coding	YES	CCDS43553.1	ENSP00000382356	Q2UY09		UPI000155D64E	NM_001037763.2	tolerated(0.07)		3/35		PROSITE_profiles:PS50234,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF578,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs371960243	.												T	3	4	14	7531583	7531583	C	T	1	0	0	0	0	1	0	0	0	3475	536	19	1		1	COL28A1	7	7531583	Missense_Mutation	SNP	C	C3L-00279_TP	4959280	7531583	151814390	259	6334											
GLCCI1	0	.	GRCh38	chr7	7969436	7969436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgaggcgcagcgccgcggGgtccccgcccgccgtcgccg	3	3	17	18	9	0	1	0	1	0	0	2	2	1	1	6	3	1	1	6	3	0	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.86G>T	p.Gly29Val	p.G29V	ENST00000223145	1/8	85	68	17	78	78	0	strelka-mutect	GLCCI1,missense_variant,p.Gly29Val,ENST00000223145,NM_138426.3;GLCCI1,upstream_gene_variant,,ENST00000430798,;GLCCI1,upstream_gene_variant,,ENST00000414914,;UMAD1,downstream_gene_variant,,ENST00000482067,;AC006042.7,intron_variant,,ENST00000428660,;RP11-505D17.1,intron_variant,,ENST00000469183,;GLCCI1,upstream_gene_variant,,ENST00000474269,;GLCCI1,upstream_gene_variant,,ENST00000470583,;GLCCI1,upstream_gene_variant,,ENST00000492797,;GLCCI1,upstream_gene_variant,,ENST00000460897,;	T	ENST00000223145	Transcript	missense_variant	643/4743	86/1644	29/547	G/V	gGg/gTg		1		1	GLCCI1	HGNC	HGNC:18713	protein_coding	YES	CCDS34601.1	ENSP00000223145	Q86VQ1		UPI00001907F7	NM_138426.3	deleterious_low_confidence(0)		1/8		hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF3,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1343403963	.												T	3	4	14	7969436	7969436	G	T	1	0	0	0	0	1	0	0	0	6309	1232	43	2		2	GLCCI1	7	7969436	Missense_Mutation	SNP	G	C3L-00279_TP	437853	7969436	151376537	260	6335											
THSD7A	0	.	GRCh38	chr7	11379175	11379175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcacatctcctcttttgtCctccatggtgggtaatacca	7	16	6	12	0	3	0	1	0	2	0	6	0	5	0	4	2	1	1	4	2	2	5	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.4696G>T	p.Asp1566Tyr	p.D1566Y	ENST00000423059	26/28	397	342	55	323	322	1	strelka-varscan-mutect	THSD7A,missense_variant,p.Asp1566Tyr,ENST00000423059,NM_015204.2;THSD7A,missense_variant,p.Asp1566Tyr,ENST00000617773,;AC004538.3,non_coding_transcript_exon_variant,,ENST00000595972,;AC004538.3,intron_variant,,ENST00000421121,;AC004538.3,intron_variant,,ENST00000428533,;AC004538.3,intron_variant,,ENST00000428967,;AC004538.3,intron_variant,,ENST00000445839,;AC004538.3,intron_variant,,ENST00000616268,;AC004538.3,downstream_gene_variant,,ENST00000599875,;THSD7A,non_coding_transcript_exon_variant,,ENST00000408005,;	A	ENST00000423059	Transcript	missense_variant	4948/10663	4696/4974	1566/1657	D/Y	Gac/Tac		1		-1	THSD7A	HGNC	HGNC:22207	protein_coding	YES	CCDS47543.1	ENSP00000406482	Q9UPZ6		UPI00006C0B74	NM_015204.2	deleterious(0.03)		26/28		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	14	11379175	11379175	C	A	1	0	0	0	0	1	0	0	0	16313	855	30	2		2	THSD7A	7	11379175	Missense_Mutation	SNP	C	C3L-00279_TP	3409739	11379175	147966798	261	6336											
THSD7A	0	.	GRCh38	chr7	11407388	11407388	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagggcattccaccatgcaGgacgtgttcatctgccagtt	9	10	10	12	1	2	0	1	0	1	0	3	1	3	1	3	2	2	4	3	2	0	3	rs755988902		C3L-00279_TP	C3L-00279_NB	G	G																c.3834C>A	p.=	p.S1278S	ENST00000423059	20/28	257	223	34	205	205	0	strelka-varscan-mutect	THSD7A,synonymous_variant,p.=,ENST00000423059,NM_015204.2;THSD7A,synonymous_variant,p.=,ENST00000617773,;AC004538.3,intron_variant,,ENST00000445839,;AC004160.4,intron_variant,,ENST00000425837,;	T	ENST00000423059	Transcript	synonymous_variant	4086/10663	3834/4974	1278/1657	S	tcC/tcA	rs755988902	1		-1	THSD7A	HGNC	HGNC:22207	protein_coding	YES	CCDS47543.1	ENSP00000406482	Q9UPZ6		UPI00006C0B74	NM_015204.2			20/28		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,SMART_domains:SM00209																	LOW		SNV	5			1										PASS		rs755988902	.												T	2	4	14	11407388	11407388	G	T	1	0	0	0	0	0	0	0	1	16313	987	35	2		2	THSD7A	7	11407388	Silent	SNP	G	C3L-00279_TP	28213	11407388	147938585	262	6337											
EVX1	0	.	GRCh38	chr7	27245169	27245169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcgccagtgaccagatGcgtcgttaccgcaccgcctt	7	8	11	15	5	0	2	0	1	0	1	1	2	0	2	5	0	4	3	5	0	1	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.549G>A	p.Met183Ile	p.M183I	ENST00000496902	2/3	489	429	60	492	492	0	strelka-varscan	EVX1,missense_variant,p.Met183Ile,ENST00000496902,NM_001989.4,NM_001304519.1;EVX1,missense_variant,p.Cys70Tyr,ENST00000580535,;EVX1,missense_variant,p.Cys165Tyr,ENST00000222761,;RP1-170O19.17,upstream_gene_variant,,ENST00000523608,;EVX1-AS,intron_variant,,ENST00000517726,;EVX1-AS,upstream_gene_variant,,ENST00000519050,;EVX1-AS,upstream_gene_variant,,ENST00000519218,;EVX1,upstream_gene_variant,,ENST00000518886,;	A	ENST00000496902	Transcript	missense_variant	880/2955	549/1224	183/407	M/I	atG/atA		1		1	EVX1	HGNC	HGNC:3506	protein_coding	YES	CCDS5413.1	ENSP00000419266	P49640		UPI000012A2AD	NM_001989.4,NM_001304519.1	tolerated(0.27)		2/3		PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF246,hmmpanther:PTHR24329,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	27245169	27245169	G	A	1	0	0	0	0	1	0	0	0	5161	1319	46	3		3	EVX1	7	27245169	Missense_Mutation	SNP	G	C3L-00279_TP	15837781	27245169	132100804	263	6338											
BBS9	0	.	GRCh38	chr7	33336568	33336568	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactaaactatgatgaacttGatgtagaaatgaaagaactt	19	11	7	4	0	0	6	0	4	0	2	0	6	0	6	0	0	4	1	0	0	9	5	rs745384211		C3L-00279_TP	C3L-00279_NB	G	G																c.1144G>C	p.Asp382His	p.D382H	ENST00000242067	10/23	314	274	40	151	151	0	strelka-varscan	BBS9,missense_variant,p.Asp382His,ENST00000242067,NM_198428.2;BBS9,missense_variant,p.Asp382His,ENST00000355070,NM_001033605.1;BBS9,missense_variant,p.Asp382His,ENST00000396127,NM_001033604.1;BBS9,missense_variant,p.Asp382His,ENST00000350941,NM_014451.3;BBS9,missense_variant,p.Asp382His,ENST00000433714,;	C	ENST00000242067	Transcript	missense_variant	1665/4027	1144/2664	382/887	D/H	Gat/Cat	rs745384211	1		1	BBS9	HGNC	HGNC:30000	protein_coding	YES	CCDS43566.1	ENSP00000242067	Q3SYG4	A0A090N8P4	UPI000020ED57	NM_198428.2	deleterious(0)		10/23		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14727,hmmpanther:PTHR20991,hmmpanther:PTHR20991:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	14	33336568	33336568	G	C	1	0	0	0	0	1	0	0	0	1489	1290	45	4		4	BBS9	7	33336568	Missense_Mutation	SNP	G	C3L-00279_TP	6091399	33336568	126009405	264	6339											
BMPER	0	.	GRCh38	chr7	33966547	33966547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccggctgagccttgtgttCtacgccagtgccaggtaaag	7	9	13	12	2	1	1	0	1	1	0	1	1	1	1	4	2	3	3	4	2	3	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.388C>G	p.Leu130Val	p.L130V	ENST00000297161	5/16	587	512	75	450	450	0	strelka-varscan	BMPER,missense_variant,p.Leu130Val,ENST00000297161,NM_133468.4;BMPER,missense_variant,p.Phe96Leu,ENST00000436222,;BMPER,3_prime_UTR_variant,,ENST00000444773,;	G	ENST00000297161	Transcript	missense_variant	762/5031	388/2058	130/685	L/V	Cta/Gta		1		1	BMPER	HGNC	HGNC:24154	protein_coding	YES	CCDS5442.1	ENSP00000297161	Q8N8U9	A0A090N7U6	UPI000006D462	NM_133468.4	tolerated(0.19)		5/16		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF272,SMART_domains:SM00214,Superfamily_domains:SSF57603																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	33966547	33966547	C	G	1	0	0	0	0	1	0	0	0	1623	912	32	4		4	BMPER	7	33966547	Missense_Mutation	SNP	C	C3L-00279_TP	629979	33966547	125379426	265	6340											
HECW1	0	.	GRCh38	chr7	43445154	43445154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagcgagagcgactccaGccccaggcaaggcggggacc	9	1	17	14	4	0	1	0	0	0	1	1	5	1	3	4	5	3	1	4	5	1	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1982G>T	p.Ser661Ile	p.S661I	ENST00000395891	11/30	112	95	17	112	112	0	strelka-varscan	HECW1,missense_variant,p.Ser661Ile,ENST00000395891,NM_015052.4;HECW1,missense_variant,p.Ser661Ile,ENST00000453890,NM_001287059.1;HECW1,downstream_gene_variant,,ENST00000471043,;	T	ENST00000395891	Transcript	missense_variant	2587/9501	1982/4821	661/1606	S/I	aGc/aTc		1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4	deleterious_low_confidence(0)		11/30		hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	43445154	43445154	G	T	1	0	0	0	0	1	0	0	0	6924	971	34	2		2	HECW1	7	43445154	Missense_Mutation	SNP	G	C3L-00279_TP	9478607	43445154	115900819	266	6341											
HECW1	0	.	GRCh38	chr7	43450923	43450923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacaatcgatgagcctcttCcaccaagtaagctttagttt	12	12	6	11	1	1	1	0	1	1	0	3	2	2	1	3	0	3	3	3	0	5	5	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2494C>A	p.Pro832Thr	p.P832T	ENST00000395891	12/30	289	255	34	213	213	0	strelka-varscan	HECW1,missense_variant,p.Pro832Thr,ENST00000395891,NM_015052.4;HECW1,intron_variant,,ENST00000453890,NM_001287059.1;	A	ENST00000395891	Transcript	missense_variant	3099/9501	2494/4821	832/1606	P/T	Cca/Aca		1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4	deleterious(0)		12/30		PROSITE_profiles:PS50020,hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254,Pfam_domain:PF00397,Gene3D:2.20.70.10,SMART_domains:SM00456,Superfamily_domains:SSF51045																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	43450923	43450923	C	A	1	0	0	0	0	1	0	0	0	6924	855	30	2		2	HECW1	7	43450923	Missense_Mutation	SNP	C	C3L-00279_TP	5769	43450923	115895050	267	6342											
FIGNL1	0	.	GRCh38	chr7	50445721	50445721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctaattgaactaaaaattCtgtttttatccttctagaag	14	17	4	6	0	3	2	0	1	3	1	4	2	4	2	1	0	1	1	1	0	8	9			C3L-00279_TP	C3L-00279_NB	C	C																c.1567G>A	p.Glu523Lys	p.E523K	ENST00000419119	2/2	232	206	26	141	141	0	strelka-varscan	FIGNL1,missense_variant,p.Glu523Lys,ENST00000419119,;FIGNL1,missense_variant,p.Glu523Lys,ENST00000433017,NM_001287492.1;FIGNL1,missense_variant,p.Glu523Lys,ENST00000611938,;FIGNL1,missense_variant,p.Glu523Lys,ENST00000395556,NM_001042762.2,NM_022116.4;FIGNL1,missense_variant,p.Glu523Lys,ENST00000356889,;FIGNL1,missense_variant,p.Glu523Lys,ENST00000615084,NM_001287496.1,NM_001287494.1,NM_001287493.1;FIGNL1,missense_variant,p.Glu523Lys,ENST00000617389,NM_001287495.1;FIGNL1,missense_variant,p.Glu523Lys,ENST00000613602,;FIGNL1,downstream_gene_variant,,ENST00000440350,;FIGNL1,downstream_gene_variant,,ENST00000435566,;FIGNL1,downstream_gene_variant,,ENST00000420829,;FIGNL1,downstream_gene_variant,,ENST00000422854,;FIGNL1,downstream_gene_variant,,ENST00000448788,;FIGNL1,downstream_gene_variant,,ENST00000436590,;	T	ENST00000419119	Transcript	missense_variant	3121/3700	1567/2025	523/674	E/K	Gaa/Aaa	COSM1313161	1		-1	FIGNL1	HGNC	HGNC:13286	protein_coding	YES	CCDS5510.1	ENSP00000410811	Q6PIW4		UPI000013CE5D		deleterious(0)		2/2		hmmpanther:PTHR23074:SF75,hmmpanther:PTHR23074,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	14	50445721	50445721	C	T	1	0	0	0	0	1	0	0	0	5756	922	32	3		3	FIGNL1	7	50445721	Missense_Mutation	SNP	C	C3L-00279_TP	6994798	50445721	108900252	268	6343											
ZNF679	0	.	GRCh38	chr7	64266284	64266284	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctaccaatgtgaagaatgCggcaaacccttcaactgctc	12	9	7	13	1	1	2	1	1	0	1	3	2	2	2	3	1	5	2	3	1	6	2	rs376022989		C3L-00279_TP	C3L-00279_NB	C	C																c.651C>A	p.Cys217Ter	p.C217*	ENST00000421025	5/5	105	94	11	44	44	0	strelka-varscan	ZNF679,stop_gained,p.Cys217Ter,ENST00000421025,NM_153363.2;ZNF679,stop_gained,p.Cys217Ter,ENST00000255746,;	A	ENST00000421025	Transcript	stop_gained	920/1567	651/1236	217/411	C/*	tgC/tgA	rs376022989,COSM3085054	1		1	ZNF679	HGNC	HGNC:28650	protein_coding	YES	CCDS47592.1	ENSP00000416809	Q8IYX0		UPI000045756A	NM_153363.2			5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF91,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF13894,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1						HIGH	1	SNV	1		0,1	1										PASS		.	.												A	4	1	14	64266284	64266284	C	A	1	0	0	0	0	0	1	0	0	18659	776	27	1		1	ZNF679	7	64266284	Nonsense_Mutation	SNP	C	C3L-00279_TP	13820563	64266284	95079689	269	6344											
AUTS2	0	.	GRCh38	chr7	70790783	70790784	+	Frame_Shift_Del	DEL	CC	CC	-																															agcctcatcaccccgggactCcccagcatgcactatccccg																								novel		C3L-00279_TP	C3L-00279_NB	CC	CC																c.3569_3570delCC	p.Pro1190GlnfsTer91	p.P1190Qfs*91	ENST00000342771	19/19	104	90	14	115	115	0	sindel-varindel-pindel	AUTS2,frameshift_variant,p.Pro1190GlnfsTer91,ENST00000342771,NM_015570.3;AUTS2,frameshift_variant,p.Pro1166GlnfsTer91,ENST00000406775,NM_001127231.2;AUTS2,frameshift_variant,p.Pro942GlnfsTer91,ENST00000611706,;AUTS2,frameshift_variant,p.Pro918GlnfsTer91,ENST00000615871,;AUTS2,downstream_gene_variant,,ENST00000418686,;AUTS2,downstream_gene_variant,,ENST00000498384,;AUTS2,downstream_gene_variant,,ENST00000449547,;AUTS2,downstream_gene_variant,,ENST00000439256,;	-	ENST00000342771	Transcript	frameshift_variant	3888-3889/6173	3567-3568/3780	1189-1190/1259	LP/LX	ctCCcc/ctcc		1		1	AUTS2	HGNC	HGNC:14262	protein_coding	YES	CCDS5539.1	ENSP00000344087	Q8WXX7		UPI0000126665	NM_015570.3			19/19		hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF5																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	14	70790783	70790783	CC	-	1	0	1	0	1	0	0	0	0	1381	842	30	0		0	AUTS2	7	70790783	Frame_Shift_Del	DEL	CC	C3L-00279_TP	6524499	70790783	88555190	270	6345											
GNAT3	0	.	GRCh38	chr7	80462169	80462169	+	Silent	SNP	T	T	A																															aaaatcttaccagtgtattcTggaaagcagatactaagatg																								novel		C3L-00279_TP	C3L-00279_NB	T	T																c.864A>T	p.=	p.P288P	ENST00000398291	7/8	68	63	5	26	26	0	strelka-mutect	GNAT3,synonymous_variant,p.=,ENST00000398291,NM_001102386.1;CD36,intron_variant,,ENST00000435819,;	A	ENST00000398291	Transcript	synonymous_variant	958/1159	864/1065	288/354	P	ccA/ccT		1		-1	GNAT3	HGNC	HGNC:22800	protein_coding	YES	CCDS47625.1	ENSP00000381339	A8MTJ3		UPI0000198E14	NM_001102386.1			7/8		hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF66,Pfam_domain:PF00503,Gene3D:3.40.50.300,SMART_domains:SM00275,Superfamily_domains:SSF52540,Prints_domain:PR00441																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	80462169	80462169	T	A	1	0	0	0	0	0	0	0	1	6393	1567	55	4		4	GNAT3	7	80462169	Silent	SNP	T	C3L-00279_TP	9671386	80462169	78883804	271	6346	147	2									
GNAT3	0	.	GRCh38	chr7	80462170	80462170	+	Missense_Mutation	SNP	G	G	A																															aaatcttaccagtgtattctGgaaagcagatactaagatgc																								novel		C3L-00279_TP	C3L-00279_NB	G	G																c.863C>T	p.Pro288Leu	p.P288L	ENST00000398291	7/8	69	63	6	27	27	0	strelka-mutect	GNAT3,missense_variant,p.Pro288Leu,ENST00000398291,NM_001102386.1;CD36,intron_variant,,ENST00000435819,;	A	ENST00000398291	Transcript	missense_variant	957/1159	863/1065	288/354	P/L	cCa/cTa		1		-1	GNAT3	HGNC	HGNC:22800	protein_coding	YES	CCDS47625.1	ENSP00000381339	A8MTJ3		UPI0000198E14	NM_001102386.1	deleterious(0)		7/8		hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF66,Pfam_domain:PF00503,Gene3D:3.40.50.300,SMART_domains:SM00275,Superfamily_domains:SSF52540,Prints_domain:PR00441																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	80462170	80462170	G	A	1	0	0	0	0	1	0	0	0	6393	1348	47	3		3	GNAT3	7	80462170	Missense_Mutation	SNP	G	C3L-00279_TP	1	80462170	78883803	272	6347	147	2									
PCLO	0	.	GRCh38	chr7	82949574	82949574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacgctgcatcatcttggCtgtcttaggacttgctgggg	7	12	13	9	1	3	1	1	0	2	1	3	2	3	2	0	4	3	4	0	4	2	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.11014G>A	p.Ala3672Thr	p.A3672T	ENST00000333891	6/25	175	152	23	130	130	0	strelka-varscan-mutect	PCLO,missense_variant,p.Ala3672Thr,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Ala3672Thr,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Ala392Thr,ENST00000437081,;	T	ENST00000333891	Transcript	missense_variant	11352/20329	11014/15429	3672/5142	A/T	Gcc/Acc		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	tolerated(0.45)		6/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	14	82949574	82949574	C	T	1	0	0	0	0	1	0	0	0	11671	797	28	3		3	PCLO	7	82949574	Missense_Mutation	SNP	C	C3L-00279_TP	2487404	82949574	76396399	273	6348											
PCLO	0	.	GRCh38	chr7	82955268	82955268	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatagattgctcatctgtTggtgagtataatgaaacagc	14	13	9	5	0	2	3	1	2	1	1	2	3	2	3	0	1	3	3	0	1	5	6	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.5685A>T	p.=	p.P1895P	ENST00000333891	5/25	173	153	20	62	62	0	strelka-varscan-mutect	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	A	ENST00000333891	Transcript	synonymous_variant	6023/20329	5685/15429	1895/5142	P	ccA/ccT		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5			5/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	14	82955268	82955268	T	A	1	0	0	0	0	0	0	0	1	11671	1799	63	4		4	PCLO	7	82955268	Silent	SNP	T	C3L-00279_TP	5694	82955268	76390705	274	6349											
SEMA3E	0	.	GRCh38	chr7	83418434	83418434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggggtcaaaaggacatCtgccccttcctctctcagat	9	10	9	13	0	4	1	2	0	2	1	6	2	5	2	3	3	2	1	3	3	2	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.506G>T	p.Arg169Ile	p.R169I	ENST00000307792	5/17	428	365	63	277	277	0	strelka-varscan-mutect	SEMA3E,missense_variant,p.Arg169Ile,ENST00000307792,NM_012431.2;SEMA3E,missense_variant,p.Arg109Ile,ENST00000427262,NM_001178129.1;SEMA3E,missense_variant,p.Arg109Ile,ENST00000442159,;	A	ENST00000307792	Transcript	missense_variant	974/6476	506/2328	169/775	R/I	aGa/aTa		1		-1	SEMA3E	HGNC	HGNC:10727	protein_coding	YES	CCDS34674.1	ENSP00000303212	O15041		UPI0000135A68	NM_012431.2	deleterious(0)		5/17		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	83418434	83418434	C	A	1	0	0	0	0	1	0	0	0	14304	913	32	2		2	SEMA3E	7	83418434	Missense_Mutation	SNP	C	C3L-00279_TP	463166	83418434	75927539	275	6350											
ZNF804B	0	.	GRCh38	chr7	89335848	89335848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagttgtaaaagtgaattaGaggctccttcgcaagtccca	13	10	9	9	1	0	2	0	1	0	1	3	2	2	2	2	1	0	4	2	1	5	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2866G>A	p.Glu956Lys	p.E956K	ENST00000333190	4/4	283	254	29	181	181	0	strelka-varscan-mutect	ZNF804B,missense_variant,p.Glu956Lys,ENST00000333190,NM_181646.3;ZNF804B,missense_variant,p.Glu873Lys,ENST00000611114,;	A	ENST00000333190	Transcript	missense_variant	3475/4659	2866/4050	956/1349	E/K	Gag/Aag		1		1	ZNF804B	HGNC	HGNC:21958	protein_coding	YES	CCDS5613.1	ENSP00000329638	A4D1E1		UPI00001A92D2	NM_181646.3	tolerated(0.65)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	89335848	89335848	G	A	1	0	0	0	0	1	0	0	0	18756	943	33	3		3	ZNF804B	7	89335848	Missense_Mutation	SNP	G	C3L-00279_TP	5917414	89335848	70010125	276	6351											
STEAP2	0	.	GRCh38	chr7	90225090	90225090	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtccgtatcatggaatCaatctctatgatgggaagcc	12	11	10	8	1	3	1	2	1	1	0	5	3	4	3	2	2	1	1	2	2	6	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.8C>A	p.Ser3Ter	p.S3*	ENST00000394621	3/6	120	105	15	49	49	0	strelka-varscan-mutect	STEAP2,stop_gained,p.Ser3Ter,ENST00000394621,NM_001244944.1;STEAP2,stop_gained,p.Ser3Ter,ENST00000287908,NM_152999.3;STEAP2,stop_gained,p.Ser3Ter,ENST00000394622,NM_001040665.1;STEAP2,stop_gained,p.Ser3Ter,ENST00000394626,NM_001244945.1;STEAP2,stop_gained,p.Ser3Ter,ENST00000394629,NM_001040666.1;STEAP2,stop_gained,p.Ser3Ter,ENST00000394632,NM_001244946.1;STEAP2,stop_gained,p.Ser3Ter,ENST00000402625,;STEAP2,stop_gained,p.Ser3Ter,ENST00000428074,;STEAP2,stop_gained,p.Ser3Ter,ENST00000426158,;STEAP2,non_coding_transcript_exon_variant,,ENST00000482369,;	A	ENST00000394621	Transcript	stop_gained	514/7033	8/1473	3/490	S/*	tCa/tAa		1		1	STEAP2	HGNC	HGNC:17885	protein_coding	YES	CCDS5615.1	ENSP00000378119	Q8NFT2		UPI000013DEE0	NM_001244944.1			3/6		hmmpanther:PTHR14239:SF6,hmmpanther:PTHR14239																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	14	90225090	90225090	C	A	1	0	0	0	0	0	1	0	0	15655	838	29	2		2	STEAP2	7	90225090	Nonsense_Mutation	SNP	C	C3L-00279_TP	889242	90225090	69120883	277	6352											
CDK6	0	.	GRCh38	chr7	92833166	92833166	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatggtggagagcggcatgCcctcctcgccggtctgcacc	5	7	15	14	3	1	1	0	0	1	1	3	3	2	2	4	5	3	2	4	5	0	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.158G>T	p.Gly53Val	p.G53V	ENST00000265734	2/8	394	351	43	320	320	0	strelka-varscan-mutect	CDK6,missense_variant,p.Gly53Val,ENST00000265734,NM_001259.6;CDK6,missense_variant,p.Gly53Val,ENST00000424848,NM_001145306.1;AC002454.1,upstream_gene_variant,,ENST00000435695,;AC002454.1,upstream_gene_variant,,ENST00000452050,;CDK6,downstream_gene_variant,,ENST00000491250,;	A	ENST00000265734	Transcript	missense_variant	570/11612	158/981	53/326	G/V	gGc/gTc		1		-1	CDK6	HGNC	HGNC:1777	protein_coding	YES	CCDS5628.1	ENSP00000265734	Q00534		UPI00001108FA	NM_001259.6	deleterious(0)		2/8		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF130,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	92833166	92833166	C	A	1	0	0	0	0	1	0	0	0	2852	739	26	2		2	CDK6	7	92833166	Missense_Mutation	SNP	C	C3L-00279_TP	2608076	92833166	66512807	278	6353											
COL1A2	0	.	GRCh38	chr7	94395035	94395035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtctaagtgctagacatgCtcagctttgtggatacgcgg	9	12	12	8	2	2	1	1	0	1	1	2	2	2	2	0	2	4	3	0	2	3	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.4C>A	p.Leu2Ile	p.L2I	ENST00000297268	1/52	486	421	65	434	434	0	strelka-varscan-mutect	COL1A2,missense_variant,p.Leu2Ile,ENST00000297268,NM_000089.3;COL1A2,missense_variant,p.Leu2Ile,ENST00000620463,;	A	ENST00000297268	Transcript	missense_variant	475/5411	4/4101	2/1366	L/I	Ctc/Atc		1		1	COL1A2	HGNC	HGNC:2198	protein_coding	YES	CCDS34682.1	ENSP00000297268	P08123	A0A0S2Z3H5	UPI00003B0CFC	NM_000089.3	tolerated_low_confidence(0.43)		1/52		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	94395035	94395035	C	A	1	0	0	0	0	1	0	0	0	3466	797	28	2		2	COL1A2	7	94395035	Missense_Mutation	SNP	C	C3L-00279_TP	1561869	94395035	64950938	279	6354											
COL1A2	0	.	GRCh38	chr7	94420562	94420562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgctggtcaacctggtGctaaaggagaaagaggagcc	11	7	15	8	0	1	2	1	0	0	2	1	4	1	3	2	4	5	3	2	4	4	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2209G>T	p.Ala737Ser	p.A737S	ENST00000297268	37/52	911	790	121	766	762	4	strelka-varscan-mutect	COL1A2,missense_variant,p.Ala737Ser,ENST00000297268,NM_000089.3;COL1A2,missense_variant,p.Ala735Ser,ENST00000620463,;COL1A2,non_coding_transcript_exon_variant,,ENST00000497316,;COL1A2,non_coding_transcript_exon_variant,,ENST00000473573,;COL1A2,non_coding_transcript_exon_variant,,ENST00000461525,;COL1A2,non_coding_transcript_exon_variant,,ENST00000467931,;COL1A2,upstream_gene_variant,,ENST00000481570,;COL1A2,upstream_gene_variant,,ENST00000478215,;COL1A2,upstream_gene_variant,,ENST00000469732,;COL1A2,downstream_gene_variant,,ENST00000488298,;	T	ENST00000297268	Transcript	missense_variant	2680/5411	2209/4101	737/1366	A/S	Gct/Tct		1		1	COL1A2	HGNC	HGNC:2198	protein_coding	YES	CCDS34682.1	ENSP00000297268	P08123	A0A0S2Z3H5	UPI00003B0CFC	NM_000089.3	tolerated(0.06)		37/52		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF568,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	94420562	94420562	G	T	1	0	0	0	0	1	0	0	0	3466	1319	46	2		2	COL1A2	7	94420562	Missense_Mutation	SNP	G	C3L-00279_TP	25527	94420562	64925411	280	6355											
DYNC1I1	0	.	GRCh38	chr7	95984867	95984867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagatccttcattcagaGgaatttctcatcttttttga	10	16	6	9	0	4	3	3	1	2	2	6	4	5	4	1	1	1	1	1	1	1	6	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.684G>T	p.Glu228Asp	p.E228D	ENST00000324972	8/17	318	287	31	181	181	0	strelka-varscan-mutect	DYNC1I1,missense_variant,p.Glu228Asp,ENST00000324972,NM_004411.4;DYNC1I1,missense_variant,p.Glu211Asp,ENST00000447467,NM_001135556.1;DYNC1I1,missense_variant,p.Glu208Asp,ENST00000437599,NM_001278421.1;DYNC1I1,missense_variant,p.Glu191Asp,ENST00000359388,NM_001135557.1;DYNC1I1,missense_variant,p.Glu211Asp,ENST00000457059,;DYNC1I1,missense_variant,p.Glu191Asp,ENST00000630942,NM_001278422.1;DYNC1I1,missense_variant,p.Glu133Asp,ENST00000537881,;DYNC1I1,non_coding_transcript_exon_variant,,ENST00000519371,;	T	ENST00000324972	Transcript	missense_variant	877/2950	684/1938	228/645	E/D	gaG/gaT		1		1	DYNC1I1	HGNC	HGNC:2963	protein_coding	YES	CCDS5644.1	ENSP00000320130	O14576	A4D1I7	UPI0000129A01	NM_004411.4	tolerated(0.19)		8/17		hmmpanther:PTHR12442:SF34,hmmpanther:PTHR12442																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	95984867	95984867	G	T	1	0	0	0	0	1	0	0	0	4666	991	35	2		2	DYNC1I1	7	95984867	Missense_Mutation	SNP	G	C3L-00279_TP	1564305	95984867	63361106	281	6356											
NYAP1	0	.	GRCh38	chr7	100493823	100493823	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatcctccccagctggCggcggggacccgagccccgc	4	4	13	20	4	0	0	0	0	0	0	2	2	2	1	7	4	3	1	7	4	0	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2446C>A	p.=	p.R816R	ENST00000300179	7/7	175	147	28	164	164	0	strelka-varscan-mutect	NYAP1,synonymous_variant,p.=,ENST00000300179,NM_173564.3;NYAP1,synonymous_variant,p.=,ENST00000454988,;NYAP1,non_coding_transcript_exon_variant,,ENST00000496985,;NYAP1,non_coding_transcript_exon_variant,,ENST00000489641,;	A	ENST00000300179	Transcript	synonymous_variant	2605/3581	2446/2526	816/841	R	Cgg/Agg		1		1	NYAP1	HGNC	HGNC:22009	protein_coding	YES	CCDS5696.1	ENSP00000300179	Q6ZVC0		UPI00001C0A2E	NM_173564.3			7/7		Pfam_domain:PF15452,hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF2																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	14	100493823	100493823	C	A	1	0	0	0	0	0	0	0	1	10872	759	27	1		1	NYAP1	7	100493823	Silent	SNP	C	C3L-00279_TP	4508956	100493823	58852150	282	6357											
ZAN	0	.	GRCh38	chr7	100790988	100790988	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcttgtgagtggcctgtgCggaaactacgacaagaaccg	10	7	15	9	3	0	2	0	1	0	1	0	4	0	3	2	3	4	1	2	3	4	2	rs552182725		C3L-00279_TP	C3L-00279_NB	C	C																c.7404C>A	p.Cys2468Ter	p.C2468*	ENST00000613979	40/48	197	167	30	150	150	0	strelka-varscan-mutect	ZAN,stop_gained,p.Cys2468Ter,ENST00000613979,NM_003386.2;ZAN,stop_gained,p.Cys2468Ter,ENST00000618565,;ZAN,stop_gained,p.Cys2468Ter,ENST00000620596,NM_173059.2;ZAN,stop_gained,p.Cys2468Ter,ENST00000546292,;ZAN,stop_gained,p.Cys2468Ter,ENST00000542585,;ZAN,stop_gained,p.Cys2468Ter,ENST00000538115,;ZAN,stop_gained,p.Cys2468Ter,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,;	A	ENST00000613979	Transcript	stop_gained	7569/8669	7404/8439	2468/2812	C/*	tgC/tgA	rs552182725,COSM1233070	1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.2			40/48		Pfam_domain:PF00094,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF221,SMART_domains:SM00216											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs552182725	.												A	4	1	14	100790988	100790988	C	A	1	0	0	0	0	0	1	0	0	18074	776	27	1		1	ZAN	7	100790988	Nonsense_Mutation	SNP	C	C3L-00279_TP	297165	100790988	58554985	283	6358											
MUC17	0	.	GRCh38	chr7	101035129	101035129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccagttctgaggctagcaCcctttcaacatctcccgttg	7	11	9	14	1	3	1	1	1	2	0	4	1	3	1	3	2	2	4	3	2	2	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.3713C>T	p.Thr1238Ile	p.T1238I	ENST00000306151	3/13	163	145	18	124	124	0	strelka-varscan	MUC17,missense_variant,p.Thr1238Ile,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr1238Ile,ENST00000379439,;	T	ENST00000306151	Transcript	missense_variant	3777/14247	3713/13482	1238/4493	T/I	aCc/aTc		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	deleterious(0)		3/13		Low_complexity_(Seg):seg,hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	101035129	101035129	C	T	1	0	0	0	0	1	0	0	0	9973	507	18	3		3	MUC17	7	101035129	Missense_Mutation	SNP	C	C3L-00279_TP	244141	101035129	58310844	284	6359											
MUC17	0	.	GRCh38	chr7	101040054	101040054	+	Missense_Mutation	SNP	C	C	A																															gtatacctgtcagcaccacgCcggtggccagttctgaggct																								novel		C3L-00279_TP	C3L-00279_NB	C	C																c.8638C>A	p.Pro2880Thr	p.P2880T	ENST00000306151	3/13	135	119	16	121	121	0	strelka-varscan	MUC17,missense_variant,p.Pro2880Thr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Pro2880Thr,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	A	ENST00000306151	Transcript	missense_variant	8702/14247	8638/13482	2880/4493	P/T	Ccg/Acg		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	tolerated(0.31)		3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	101040054	101040054	C	A	1	0	0	0	0	1	0	0	0	9973	739	26	2		2	MUC17	7	101040054	Missense_Mutation	SNP	C	C3L-00279_TP	4925	101040054	58305919	285	6360	148	2									
MUC17	0	.	GRCh38	chr7	101040055	101040055	+	Missense_Mutation	SNP	C	C	A																															tatacctgtcagcaccacgcCggtggccagttctgaggcta																								rs142042551		C3L-00279_TP	C3L-00279_NB	C	C																c.8639C>A	p.Pro2880Gln	p.P2880Q	ENST00000306151	3/13	134	119	15	120	120	0	strelka-varscan	MUC17,missense_variant,p.Pro2880Gln,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Pro2880Gln,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	A	ENST00000306151	Transcript	missense_variant	8703/14247	8639/13482	2880/4493	P/Q	cCg/cAg	rs142042551,COSM598132	1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	tolerated(0.1)		3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	14	101040055	101040055	C	A	1	0	0	0	0	1	0	0	0	9973	652	23	1		1	MUC17	7	101040055	Missense_Mutation	SNP	C	C3L-00279_TP	1	101040055	58305918	286	6361	148	2									
NRCAM	0	.	GRCh38	chr7	108150122	108150122	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagttcgacttcctttttTcaaaggcttgtggtcttctg	6	17	10	8	1	3	0	1	0	2	0	5	2	4	1	1	3	0	2	1	3	1	7	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.3703A>G	p.Lys1235Glu	p.K1235E	ENST00000379028	33/33	174	142	32	95	95	0	strelka-varscan	NRCAM,missense_variant,p.Lys1235Glu,ENST00000379028,;NRCAM,missense_variant,p.Lys1142Glu,ENST00000413765,NM_001193582.1;NRCAM,missense_variant,p.Lys1114Glu,ENST00000351718,NM_005010.4;NRCAM,missense_variant,p.Lys1123Glu,ENST00000379024,NM_001193583.1,NM_001193584.1;NRCAM,missense_variant,p.Lys1235Glu,ENST00000425651,NM_001037132.2;NRCAM,missense_variant,p.Lys1230Glu,ENST00000379022,;NRCAM,missense_variant,p.Lys134Glu,ENST00000445634,;NRCAM,non_coding_transcript_exon_variant,,ENST00000522550,;NRCAM,non_coding_transcript_exon_variant,,ENST00000415105,;	C	ENST00000379028	Transcript	missense_variant	4189/6685	3703/3915	1235/1304	K/E	Aaa/Gaa		1		-1	NRCAM	HGNC	HGNC:7994	protein_coding	YES	CCDS47686.1	ENSP00000368314	Q92823		UPI00005E2661		tolerated(0.06)		33/33		Pfam_domain:PF13882,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	14	108150122	108150122	T	C	1	0	0	0	0	1	0	0	0	10700	1792	62	5		5	NRCAM	7	108150122	Missense_Mutation	SNP	T	C3L-00279_TP	7110067	108150122	51195851	287	6362											
PPP1R3A	0	.	GRCh38	chr7	113879926	113879927	+	Frame_Shift_Ins	INS	-	-	A																															ggaatatttttcattgcagtINSaaaaatctccctttacggag																								novel		C3L-00279_TP	C3L-00279_NB	-	-																c.1165dupT	p.Tyr389LeufsTer4	p.Y389Lfs*4	ENST00000284601	4/4	196	183	13	74	74	0	varindel-pindel	PPP1R3A,frameshift_variant,p.Tyr389LeufsTer4,ENST00000284601,NM_002711.3;PPP1R3A,frameshift_variant,p.Tyr68LeufsTer4,ENST00000449795,;PPP1R3A,3_prime_UTR_variant,,ENST00000284602,;	A	ENST00000284601	Transcript	frameshift_variant	1234-1235/4384	1165-1166/3369	389/1122	Y/LX	tac/tTac		1		-1	PPP1R3A	HGNC	HGNC:9291	protein_coding	YES	CCDS5759.1	ENSP00000284601	Q16821		UPI000013DDAA	NM_002711.3			4/4		hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	14	113879926	113879926	-	A	1	0	1	1	0	0	0	0	0	12492	1638	57	0		0	PPP1R3A	7	113879926	Frame_Shift_Ins	INS	-	C3L-00279_TP	5729804	113879926	45466047	288	6363											
PTPRZ1	0	.	GRCh38	chr7	122054001	122054001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgatatgggaccataatgCccaactggtggttatgattc	11	12	11	7	0	0	2	0	2	0	0	1	4	0	3	2	3	2	1	2	3	4	4	rs147791375		C3L-00279_TP	C3L-00279_NB	C	C																c.6344C>A	p.Ala2115Asp	p.A2115D	ENST00000393386	26/30	217	196	21	101	101	0	strelka-varscan	PTPRZ1,missense_variant,p.Ala2115Asp,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,missense_variant,p.Ala1248Asp,ENST00000449182,NM_001206839.1;	A	ENST00000393386	Transcript	missense_variant	6755/8175	6344/6948	2115/2315	A/D	gCc/gAc	rs147791375	1		1	PTPRZ1	HGNC	HGNC:9685	protein_coding	YES	CCDS34740.1	ENSP00000377047	P23471		UPI000020F9BB	NM_001206838.1,NM_002851.2	deleterious(0)		26/30		PROSITE_profiles:PS50055,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	122054001	122054001	C	A	1	0	0	0	0	1	0	0	0	12969	739	26	2		2	PTPRZ1	7	122054001	Missense_Mutation	SNP	C	C3L-00279_TP	8174075	122054001	37291972	289	6364											
FLNC	0	.	GRCh38	chr7	128856546	128856546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcaaggtgaaccagccagCgtcctttgccgtgcagctga	8	8	12	13	2	1	2	1	2	0	0	2	2	2	2	4	1	6	3	4	1	2	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.7280C>A	p.Ala2427Glu	p.A2427E	ENST00000325888	44/48	428	380	48	386	386	0	strelka-varscan	FLNC,missense_variant,p.Ala2427Glu,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Ala2394Glu,ENST00000346177,NM_001127487.1;RP11-309L24.2,intron_variant,,ENST00000469965,;	A	ENST00000325888	Transcript	missense_variant	7541/9188	7280/8178	2427/2725	A/E	gCg/gAg		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4	tolerated(0.25)		44/48		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	128856546	128856546	C	A	1	0	0	0	0	1	0	0	0	5791	768	27	1		1	FLNC	7	128856546	Missense_Mutation	SNP	C	C3L-00279_TP	6802545	128856546	30489427	290	6365											
CPA5	0	.	GRCh38	chr7	130350100	130350100	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttacagcatcatgataaaGgacatccaggtgaagccctg	13	8	10	10	0	1	2	1	2	0	0	2	3	2	3	2	2	3	2	2	2	4	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.324G>A	p.=	p.K108K	ENST00000485477	4/12	101	82	19	81	81	0	strelka-varscan	CPA5,synonymous_variant,p.=,ENST00000485477,;CPA5,synonymous_variant,p.=,ENST00000466363,;CPA5,synonymous_variant,p.=,ENST00000474905,NM_080385.4,NM_001127441.1;CPA5,synonymous_variant,p.=,ENST00000431780,NM_001127442.1;CPA5,synonymous_variant,p.=,ENST00000461828,NM_001318223.1;CPA5,synonymous_variant,p.=,ENST00000393213,;CPA5,synonymous_variant,p.=,ENST00000463587,;CPA5,downstream_gene_variant,,ENST00000494311,;CPA5,downstream_gene_variant,,ENST00000497503,;CPA5,non_coding_transcript_exon_variant,,ENST00000495736,;	A	ENST00000485477	Transcript	synonymous_variant	1453/2573	324/1311	108/436	K	aaG/aaA		1		1	CPA5	HGNC	HGNC:15722	protein_coding	YES	CCDS5819.1	ENSP00000420237	Q8WXQ8	A4D1M2	UPI000000D837				4/12		hmmpanther:PTHR11705:SF16,hmmpanther:PTHR11705,Gene3D:3.30.70.340,Pfam_domain:PF02244,Superfamily_domains:SSF54897																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	130350100	130350100	G	A	1	0	0	0	0	0	0	0	1	3587	991	35	3		3	CPA5	7	130350100	Silent	SNP	G	C3L-00279_TP	1493554	130350100	28995873	291	6366											
PLXNA4	0	.	GRCh38	chr7	132227599	132227599	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggacattgtacgtctccagGaccagctgtgaacagccagg	10	7	13	11	1	1	1	0	1	1	0	2	3	1	3	3	3	4	2	3	3	2	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1734C>A	p.=	p.V578V	ENST00000359827	7/32	254	220	34	177	176	1	strelka-varscan	PLXNA4,synonymous_variant,p.=,ENST00000359827,;PLXNA4,synonymous_variant,p.=,ENST00000321063,NM_020911.1;	T	ENST00000359827	Transcript	synonymous_variant	2697/13786	1734/5685	578/1894	V	gtC/gtA		1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B				7/32		hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	14	132227599	132227599	G	T	1	0	0	0	0	0	0	0	1	12228	1188	41	2		2	PLXNA4	7	132227599	Silent	SNP	G	C3L-00279_TP	1877499	132227599	27118374	292	6367											
CALD1	0	.	GRCh38	chr7	134891635	134891635	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggacatgctgggtggatcCggatcgcatggaagacgcag	9	6	17	9	4	0	1	0	0	0	1	2	5	1	5	1	5	1	3	1	5	1	0			C3L-00279_TP	C3L-00279_NB	C	C																c.15C>A	p.=	p.S5S	ENST00000393118	1/13	167	147	20	112	112	0	strelka-varscan	CALD1,synonymous_variant,p.=,ENST00000393118,NM_033139.3;CALD1,synonymous_variant,p.=,ENST00000495522,;CALD1,synonymous_variant,p.=,ENST00000424922,NM_033140.3;CALD1,intron_variant,,ENST00000361901,NM_004342.6;CALD1,intron_variant,,ENST00000361675,NM_033138.3;CALD1,intron_variant,,ENST00000422748,NM_033157.3;CALD1,intron_variant,,ENST00000417172,;CALD1,intron_variant,,ENST00000436461,;CALD1,intron_variant,,ENST00000454108,;CALD1,intron_variant,,ENST00000445569,;CALD1,intron_variant,,ENST00000435928,;CALD1,intron_variant,,ENST00000489019,;CALD1,synonymous_variant,p.=,ENST00000443197,;CALD1,intron_variant,,ENST00000482470,;CALD1,intron_variant,,ENST00000430085,;	A	ENST00000393118	Transcript	synonymous_variant	236/4281	15/1677	5/558	S	tcC/tcA	COSM1247257	1		1	CALD1	HGNC	HGNC:1441	protein_coding		CCDS47716.1	ENSP00000376826	Q05682		UPI000002A558	NM_033139.3			1/13		Low_complexity_(Seg):seg											1						LOW		SNV	1		1	1										PASS		.	.												A	2	1	14	134891635	134891635	C	A	1	0	0	0	0	0	0	0	1	2271	639	23	1		1	CALD1	7	134891635	Silent	SNP	C	C3L-00279_TP	2664036	134891635	24454338	293	6368											
KIAA1549	0	.	GRCh38	chr7	138871223	138871223	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgctggacgggaggtgcCgggatcggctgcatggcgat	5	6	21	9	5	0	0	0	0	0	0	1	4	0	3	1	7	2	3	1	7	0	0	rs538170892		C3L-00279_TP	C3L-00279_NB	C	C																c.4485G>T	p.=	p.P1495P	ENST00000422774	13/20	160	140	20	128	128	0	strelka-varscan	KIAA1549,synonymous_variant,p.=,ENST00000440172,NM_020910.2;KIAA1549,synonymous_variant,p.=,ENST00000422774,NM_001164665.1;	A	ENST00000422774	Transcript	synonymous_variant	4534/6283	4485/5853	1495/1950	P	ccG/ccT	rs538170892	1		-1	KIAA1549	HGNC	HGNC:22219	protein_coding	YES	CCDS56513.1	ENSP00000416040	Q9HCM3		UPI0001837EBD	NM_001164665.1			13/20		hmmpanther:PTHR21590:SF4,hmmpanther:PTHR21590,Pfam_domain:PF12877																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	138871223	138871223	C	A	1	0	0	0	0	0	0	0	1	8120	639	23	1		1	KIAA1549	7	138871223	Silent	SNP	C	C3L-00279_TP	3979588	138871223	20474750	294	6369											
TMEM178B	0	.	GRCh38	chr7	141470715	141470715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggattcttctgtaccttaGccccttctgttcaacctgtc	5	15	7	14	1	4	0	1	0	3	0	5	1	4	1	4	1	3	2	4	1	3	6	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.814G>T	p.Ala272Ser	p.A272S	ENST00000565468	4/4	240	216	24	171	171	0	strelka-varscan	TMEM178B,missense_variant,p.Ala272Ser,ENST00000565468,NM_001195278.1;TMEM178B,missense_variant,p.Ala270Ser,ENST00000610315,;	T	ENST00000565468	Transcript	missense_variant	893/10558	814/885	272/294	A/S	Gcc/Tcc		1		1	TMEM178B	HGNC	HGNC:44112	protein_coding	YES	CCDS59086.1	ENSP00000456594	H3BS89		UPI0000E217DE	NM_001195278.1	tolerated(0.43)		4/4		hmmpanther:PTHR32005,hmmpanther:PTHR32005:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	141470715	141470715	G	T	1	0	0	0	0	1	0	0	0	16540	971	34	2		2	TMEM178B	7	141470715	Missense_Mutation	SNP	G	C3L-00279_TP	2599492	141470715	17875258	295	6370											
MGAM2	0	.	GRCh38	chr7	142131583	142131583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgatgtcgccaccaccCttttcacagctgaatatcag	12	10	7	12	1	2	2	2	2	0	0	3	3	2	2	3	0	1	1	3	0	3	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.376C>A	p.Leu126Ile	p.L126I	ENST00000477922	5/48	226	196	30	198	198	0	strelka-varscan	MGAM2,missense_variant,p.Leu126Ile,ENST00000477922,NM_001293626.1;MGAM2,missense_variant,p.Leu126Ile,ENST00000550469,;	A	ENST00000477922	Transcript	missense_variant	430/7867	376/7548	126/2515	L/I	Ctt/Att		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	tolerated(0.12)		5/48		Pfam_domain:PF16863,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF55,Superfamily_domains:SSF74650																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	14	142131583	142131583	C	A	1	0	0	0	0	1	0	0	0	9500	681	24	2		2	MGAM2	7	142131583	Missense_Mutation	SNP	C	C3L-00279_TP	660868	142131583	17214390	296	6371											
CLCN1	0	.	GRCh38	chr7	143321747	143321747	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaatgaagacaatacttCgtggggttgtcctgaaggaa	13	9	12	7	2	0	3	0	2	0	1	2	5	1	4	2	3	1	1	2	3	6	3	rs143506735		C3L-00279_TP	C3L-00279_NB	C	C																c.595C>A	p.Arg199Ser	p.R199S	ENST00000343257	5/23	561	490	71	416	415	1	strelka-varscan	CLCN1,missense_variant,p.Arg199Ser,ENST00000343257,NM_000083.2;CLCN1,non_coding_transcript_exon_variant,,ENST00000495612,;CLCN1,missense_variant,p.Arg19Ser,ENST00000455478,;CLCN1,missense_variant,p.Arg19Ser,ENST00000432192,;	A	ENST00000343257	Transcript	missense_variant	682/3172	595/2967	199/988	R/S	Cgt/Agt	rs143506735,COSM1201276	1		1	CLCN1	HGNC	HGNC:2019	protein_coding	YES	CCDS5881.1	ENSP00000339867	P35523		UPI000020F1EC	NM_000083.2	deleterious(0)		5/23		hmmpanther:PTHR11689:SF29,hmmpanther:PTHR11689,Gene3D:1otsB00,Pfam_domain:PF00654,Superfamily_domains:SSF81340,Prints_domain:PR00762											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	14	143321747	143321747	C	A	1	0	0	0	0	1	0	0	0	3226	884	31	1		1	CLCN1	7	143321747	Missense_Mutation	SNP	C	C3L-00279_TP	1190164	143321747	16024226	297	6372											
OR6B1	0	.	GRCh38	chr7	144004049	144004049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcattctggtgggattccCtgggagcttgagtatgcggg	5	13	16	7	1	2	1	1	1	1	0	3	3	3	3	1	4	2	3	1	4	1	5			C3L-00279_TP	C3L-00279_NB	C	C																c.53C>T	p.Pro18Leu	p.P18L	ENST00000408922	1/1	86	72	14	108	108	0	strelka-varscan	OR6B1,missense_variant,p.Pro18Leu,ENST00000408922,NM_001005281.1;	T	ENST00000408922	Transcript	missense_variant	121/1055	53/936	18/311	P/L	cCt/cTt	COSM4984041	1		1	OR6B1	HGNC	HGNC:8354	protein_coding	YES	CCDS43667.1	ENSP00000386151	O95007		UPI0000041B18	NM_001005281.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF284,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	14	144004049	144004049	C	T	1	0	0	0	0	1	0	0	0	11255	681	24	3		3	OR6B1	7	144004049	Missense_Mutation	SNP	C	C3L-00279_TP	682302	144004049	15341924	298	6373											
GIMAP6	0	.	GRCh38	chr7	150628049	150628049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccagccaggcaagggcCtggttgttggtctctcgcac	7	9	12	13	1	1	0	0	0	1	0	4	0	2	0	3	4	1	4	3	4	1	2			C3L-00279_TP	C3L-00279_NB	C	C																c.759G>T	p.Gln253His	p.Q253H	ENST00000618759	3/3	391	346	45	348	348	0	strelka-varscan	GIMAP6,missense_variant,p.Gln253His,ENST00000618759,NM_001244072.1;GIMAP6,missense_variant,p.Gln183His,ENST00000328902,NM_024711.5;GIMAP6,3_prime_UTR_variant,,ENST00000493969,NM_001244071.1;	A	ENST00000618759	Transcript	missense_variant	1239/3910	759/1089	253/362	Q/H	caG/caT	COSM1600139	1		-1	GIMAP6	HGNC	HGNC:21918	protein_coding	YES	CCDS75676.1	ENSP00000479580		B4DH95	UPI00017A6DF2	NM_001244072.1	tolerated(0.22)		3/3		PROSITE_profiles:PS51720,hmmpanther:PTHR10903:SF51,hmmpanther:PTHR10903,Pfam_domain:PF04548,Gene3D:3.40.50.300,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	14	150628049	150628049	C	A	1	0	0	0	0	1	0	0	0	6263	680	24	2		2	GIMAP6	7	150628049	Missense_Mutation	SNP	C	C3L-00279_TP	6624000	150628049	8717924	299	6374											
NEFM	0	.	GRCh38	chr8	24917117	24917117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttgcaggaagcatcactgGgccactgtatacacaccgac	12	8	9	12	1	1	0	1	0	0	0	1	2	1	1	2	2	3	3	2	2	3	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1262G>T	p.Gly421Val	p.G421V	ENST00000221166	3/3	337	309	28	210	210	0	strelka-varscan	NEFM,missense_variant,p.Gly421Val,ENST00000221166,NM_005382.2;NEFM,missense_variant,p.Gly421Val,ENST00000437366,;NEFM,missense_variant,p.Gly45Val,ENST00000433454,NM_001105541.1;NEFM,missense_variant,p.Gly421Val,ENST00000518131,;GS1-72M22.1,upstream_gene_variant,,ENST00000607058,;NEFM,non_coding_transcript_exon_variant,,ENST00000521540,;NEFM,downstream_gene_variant,,ENST00000523467,;	T	ENST00000221166	Transcript	missense_variant	2044/4020	1262/2751	421/916	G/V	gGg/gTg		1		1	NEFM	HGNC	HGNC:7734	protein_coding	YES	CCDS6046.1	ENSP00000221166	P07197		UPI000013C7A9	NM_005382.2	tolerated(0.09)		3/3		hmmpanther:PTHR23239:SF19,hmmpanther:PTHR23239																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	24917117	24917117	G	T	1	0	0	0	0	1	0	0	0	10344	1232	43	2		2	NEFM	8	24917117	Missense_Mutation	SNP	G	C3L-00279_TP		24917117	120221519	300	6375											
NUGGC	0	.	GRCh38	chr8	28064523	28064523	+	Frame_Shift_Del	DEL	T	T	-																															acctacgaaagacagtcaccTttttccacatctcgtccctc																								novel		C3L-00279_TP	C3L-00279_NB	T	T																c.920delA	p.Lys307ArgfsTer8	p.K307Rfs*8	ENST00000413272	7/19	157	145	12	145	145	0	sindel-varindel-pindel	NUGGC,frameshift_variant,p.Lys307ArgfsTer8,ENST00000413272,NM_001010906.1;	-	ENST00000413272	Transcript	frameshift_variant,splice_region_variant	1063/3887	920/2391	307/796	K/X	aAg/ag		1		-1	NUGGC	HGNC	HGNC:33550	protein_coding	YES	CCDS47833.1	ENSP00000408697	Q68CJ6		UPI0000237454	NM_001010906.1			7/19		hmmpanther:PTHR19331,Gene3D:3.40.50.300,Pfam_domain:PF00350,Superfamily_domains:SSF52540																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	14	28064523	28064523	T	-	1	0	1	0	1	0	0	0	0	10814	1623	56	0		0	NUGGC	8	28064523	Frame_Shift_Del	DEL	T	C3L-00279_TP	3147406	28064523	117074113	301	6376											
EXTL3	0	.	GRCh38	chr8	28716547	28716547	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catccgactgctcccagagaAggacgatgccggcctccctc	8	6	10	17	3	0	1	0	0	0	1	4	5	3	2	5	2	2	1	5	2	1	0	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.488A>G	p.Lys163Arg	p.K163R	ENST00000220562	3/7	518	461	57	462	462	0	strelka-varscan	EXTL3,missense_variant,p.Lys163Arg,ENST00000220562,NM_001440.3;EXTL3,intron_variant,,ENST00000523149,;EXTL3,intron_variant,,ENST00000521532,;EXTL3,upstream_gene_variant,,ENST00000521473,;EXTL3,intron_variant,,ENST00000519886,;EXTL3,downstream_gene_variant,,ENST00000518223,;EXTL3,downstream_gene_variant,,ENST00000522725,;EXTL3,downstream_gene_variant,,ENST00000520940,;EXTL3,downstream_gene_variant,,ENST00000454906,;EXTL3,downstream_gene_variant,,ENST00000519288,;EXTL3,upstream_gene_variant,,ENST00000522698,;	G	ENST00000220562	Transcript	missense_variant	1390/6483	488/2760	163/919	K/R	aAg/aGg		1		1	EXTL3	HGNC	HGNC:3518	protein_coding	YES	CCDS6070.1	ENSP00000220562	O43909		UPI000012A35D	NM_001440.3	tolerated(0.53)		3/7		hmmpanther:PTHR11062:SF73,hmmpanther:PTHR11062																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	28716547	28716547	A	G	1	0	0	0	0	1	0	0	0	5195	72	3	5		5	EXTL3	8	28716547	Missense_Mutation	SNP	A	C3L-00279_TP	652024	28716547	116422089	302	6377											
TEX15	0	.	GRCh38	chr8	30846671	30846671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgtcgggctgaatcctgGcctaaatatattagtaattt	11	14	9	7	1	0	1	0	1	0	0	2	1	1	1	2	2	1	3	2	2	7	6	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2347C>A	p.Pro783Thr	p.P783T	ENST00000256246	1/4	227	206	21	144	144	0	strelka-varscan	TEX15,missense_variant,p.Pro783Thr,ENST00000256246,NM_031271.3;TEX15,downstream_gene_variant,,ENST00000523186,;	T	ENST00000256246	Transcript	missense_variant	2422/10187	2347/8370	783/2789	P/T	Cca/Aca		1		-1	TEX15	HGNC	HGNC:11738	protein_coding	YES	CCDS6080.1	ENSP00000256246	Q9BXT5		UPI000013CEF9	NM_031271.3	tolerated(1)		1/4		hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	30846671	30846671	G	T	1	0	0	0	0	1	0	0	0	16201	1203	42	2		2	TEX15	8	30846671	Missense_Mutation	SNP	G	C3L-00279_TP	2130124	30846671	114291965	303	6378											
WRN	0	.	GRCh38	chr8	31120242	31120242	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttgtgatttgttctcaGtgtgtcatagctaccatagc	7	17	10	7	0	2	1	2	1	1	0	3	1	2	1	1	0	3	3	1	0	3	6	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2449-1G>T		p.X817_splice	ENST00000298139		306	266	40	210	210	0	strelka-varscan	WRN,splice_acceptor_variant,,ENST00000298139,NM_000553.4;WRN,splice_acceptor_variant,,ENST00000521620,;WRN,non_coding_transcript_exon_variant,,ENST00000520169,;	T	ENST00000298139	Transcript	splice_acceptor_variant	-/5215	2449/4299	817/1432				1		1	WRN	HGNC	HGNC:12791	protein_coding	YES	CCDS6082.1	ENSP00000298139	Q14191		UPI000013E49D	NM_000553.4				20/34																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	14	31120242	31120242	G	T	1	0	0	0	0	0	0	1	0	17959	1043	36	2		2	WRN	8	31120242	Splice_Site	SNP	G	C3L-00279_TP	273571	31120242	114018394	304	6379											
PRKDC	0	.	GRCh38	chr8	47794390	47794390	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaatagcctgcgggtagtTatcagtgatttcttccacag	11	12	9	9	1	2	1	1	1	1	0	3	1	3	1	2	1	3	2	2	1	5	5	rs374286545		C3L-00279_TP	C3L-00279_NB	T	T																c.10570A>T	p.Asn3524Tyr	p.N3524Y	ENST00000314191	74/86	268	231	37	158	158	0	strelka-varscan	PRKDC,missense_variant,p.Asn3524Tyr,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Asn3524Tyr,ENST00000338368,NM_001081640.1;	A	ENST00000314191	Transcript	missense_variant	10627/13509	10570/12387	3524/4128	N/Y	Aac/Tac	rs374286545	1		-1	PRKDC	HGNC	HGNC:9413	protein_coding	YES	CCDS75735.1	ENSP00000313420	P78527		UPI0000013593	NM_006904.6	tolerated(0.06)		74/86		PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF68																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	47794390	47794390	T	A	1	0	0	0	0	1	0	0	0	12654	1754	61	4		4	PRKDC	8	47794390	Missense_Mutation	SNP	T	C3L-00279_TP	16674148	47794390	97344246	305	6380											
RGS20	0	.	GRCh38	chr8	53879267	53879267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccaccccagtccttcccgCctgcacagctcccagactcg	6	6	6	23	2	0	1	0	0	0	1	4	1	3	1	8	0	2	2	8	0	0	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.175C>A	p.Pro59Thr	p.P59T	ENST00000297313	2/6	224	190	34	260	260	0	strelka-varscan	RGS20,missense_variant,p.Pro59Thr,ENST00000297313,NM_170587.3;RGS20,intron_variant,,ENST00000344277,NM_001286673.1;RGS20,upstream_gene_variant,,ENST00000276500,NM_003702.4;RGS20,upstream_gene_variant,,ENST00000522225,;RP11-1070A24.2,upstream_gene_variant,,ENST00000606037,;RGS20,upstream_gene_variant,,ENST00000523414,;RGS20,upstream_gene_variant,,ENST00000523064,;RGS20,upstream_gene_variant,,ENST00000518286,;RGS20,intron_variant,,ENST00000517659,NM_001286675.1;RGS20,intron_variant,,ENST00000523280,NM_001286674.1;	A	ENST00000297313	Transcript	missense_variant	267/2104	175/1167	59/388	P/T	Cct/Act		1		1	RGS20	HGNC	HGNC:14600	protein_coding	YES	CCDS6155.1	ENSP00000297313	O76081		UPI000013383C	NM_170587.3	deleterious_low_confidence(0)		2/6																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	53879267	53879267	C	A	1	0	0	0	0	1	0	0	0	13474	739	26	2		2	RGS20	8	53879267	Missense_Mutation	SNP	C	C3L-00279_TP	6084877	53879267	91259369	306	6381											
MOS	0	.	GRCh38	chr8	56113599	56113599	+	Frame_Shift_Del	DEL	G	G	-																															cctaggctattggaccctgcGggcgtgcgcgtgctggcagc																										C3L-00279_TP	C3L-00279_NB	G	G																c.384delC	p.Ala129GlnfsTer6	p.A129Qfs*6	ENST00000311923	1/1	159	142	17	211	211	0	sindel-varindel-pindel	MOS,frameshift_variant,p.Ala129GlnfsTer6,ENST00000311923,NM_005372.1;	-	ENST00000311923	Transcript	frameshift_variant	384/1041	384/1041	128/346	P/X	ccC/cc	COSM5457933	1		-1	MOS	HGNC	HGNC:7199	protein_coding	YES	CCDS6164.1	ENSP00000310722	P00540		UPI000012DF0C	NM_005372.1			1/1		Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF000654,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,SMART_domains:SM00220,Superfamily_domains:SSF56112											1						HIGH	1	deletion			1	1										PASS		.	.												-	7	5	14	56113599	56113599	G	-	1	0	1	0	1	0	0	0	0	9676	1103	39	0		0	MOS	8	56113599	Frame_Shift_Del	DEL	G	C3L-00279_TP	2234332	56113599	89025037	307	6382											
ADHFE1	0	.	GRCh38	chr8	66451985	66451985	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatacaccaccctgccctAccacctgcggagcccctgcc	7	6	7	21	1	1	0	1	0	0	0	1	1	1	1	8	1	6	0	8	1	2	2	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.767A>G	p.Tyr256Cys	p.Y256C	ENST00000396623	9/14	193	165	28	173	173	0	strelka-varscan	ADHFE1,missense_variant,p.Tyr256Cys,ENST00000396623,NM_144650.2;ADHFE1,missense_variant,p.Tyr208Cys,ENST00000415254,;ADHFE1,non_coding_transcript_exon_variant,,ENST00000496501,;ADHFE1,upstream_gene_variant,,ENST00000480040,;ADHFE1,missense_variant,p.Tyr256Cys,ENST00000424777,;ADHFE1,3_prime_UTR_variant,,ENST00000426810,;ADHFE1,3_prime_UTR_variant,,ENST00000419955,;ADHFE1,3_prime_UTR_variant,,ENST00000276576,;ADHFE1,3_prime_UTR_variant,,ENST00000396621,;ADHFE1,3_prime_UTR_variant,,ENST00000422166,;ADHFE1,3_prime_UTR_variant,,ENST00000443372,;ADHFE1,downstream_gene_variant,,ENST00000449512,;	G	ENST00000396623	Transcript	missense_variant	798/1990	767/1404	256/467	Y/C	tAc/tGc		1		1	ADHFE1	HGNC	HGNC:16354	protein_coding	YES	CCDS6190.2	ENSP00000379865	Q8IWW8		UPI000004966C	NM_144650.2	deleterious(0)		9/14		Gene3D:1.20.1090.10,Pfam_domain:PF00465,Superfamily_domains:SSF56796																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	66451985	66451985	A	G	1	0	0	0	0	1	0	0	0	387	391	14	5		5	ADHFE1	8	66451985	Missense_Mutation	SNP	A	C3L-00279_TP	10338386	66451985	78686651	308	6383											
EYA1	0	.	GRCh38	chr8	71321761	71321761	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgccgtacggctgtcCtggctgtgggtacgtggcat	6	10	16	9	3	0	0	0	0	0	0	1	1	1	1	2	5	3	5	2	5	3	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.391G>C	p.Gly131Arg	p.G131R	ENST00000340726	6/18	301	260	41	247	247	0	strelka-varscan	EYA1,missense_variant,p.Gly131Arg,ENST00000340726,NM_000503.5;EYA1,missense_variant,p.Gly130Arg,ENST00000303824,NM_001288575.1,NM_001288574.1;EYA1,missense_variant,p.Gly131Arg,ENST00000388742,NM_172058.3;EYA1,missense_variant,p.Gly98Arg,ENST00000388740,NM_172060.3;EYA1,missense_variant,p.Gly97Arg,ENST00000388741,;EYA1,missense_variant,p.Gly130Arg,ENST00000388743,;EYA1,missense_variant,p.Gly131Arg,ENST00000419131,NM_172059.3;EYA1,missense_variant,p.Gln108His,ENST00000465115,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;EYA1,non_coding_transcript_exon_variant,,ENST00000422295,;	G	ENST00000340726	Transcript	missense_variant	1031/4326	391/1779	131/592	G/R	Gga/Cga		1		-1	EYA1	HGNC	HGNC:3519	protein_coding	YES	CCDS34906.1	ENSP00000342626	Q99502	A0A024R813	UPI000012A3B3	NM_000503.5	deleterious(0)		6/18		hmmpanther:PTHR10190,hmmpanther:PTHR10190:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	71321761	71321761	C	G	1	0	0	0	0	1	0	0	0	5196	690	24	4		4	EYA1	8	71321761	Missense_Mutation	SNP	C	C3L-00279_TP	4869776	71321761	73816875	309	6384											
ZFHX4	0	.	GRCh38	chr8	76706063	76706063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacaaatatcagcagaccCtggaggcccatatgaaggag	15	6	10	10	0	1	2	1	1	0	1	1	4	1	4	2	3	2	1	2	3	5	3			C3L-00279_TP	C3L-00279_NB	C	C																c.1975C>A	p.Leu659Met	p.L659M	ENST00000521891	2/11	158	137	21	172	172	0	strelka-varscan	ZFHX4,missense_variant,p.Leu659Met,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Leu659Met,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	A	ENST00000521891	Transcript	missense_variant	2423/14019	1975/10851	659/3616	L/M	Ctg/Atg	COSM3901576,COSM3901577	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0)		2/11		PROSITE_patterns:PS00028,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00355											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	14	76706063	76706063	C	A	1	0	0	0	0	1	0	0	0	18213	680	24	2		2	ZFHX4	8	76706063	Missense_Mutation	SNP	C	C3L-00279_TP	5384302	76706063	68432573	310	6385											
ATP6V0D2	0	.	GRCh38	chr8	86141483	86141483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactgcatgtctgaaaatgCtctagatgaactgaatattg	14	12	9	6	0	2	5	0	3	2	2	2	5	2	5	0	0	3	2	0	0	6	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.515C>A	p.Ala172Asp	p.A172D	ENST00000285393	4/8	72	63	9	35	35	0	strelka-varscan	ATP6V0D2,missense_variant,p.Ala172Asp,ENST00000285393,NM_152565.1;CTD-3118D11.2,intron_variant,,ENST00000522679,;	A	ENST00000285393	Transcript	missense_variant	657/2446	515/1053	172/350	A/D	gCt/gAt		1		1	ATP6V0D2	HGNC	HGNC:18266	protein_coding	YES	CCDS6241.1	ENSP00000285393	Q8N8Y2	A0A024R991	UPI0000051F69	NM_152565.1	tolerated(1)		4/8		Superfamily_domains:0044678,Pfam_domain:PF01992,PIRSF_domain:PIRSF018497,hmmpanther:PTHR11028,hmmpanther:PTHR11028:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	86141483	86141483	C	A	1	0	0	0	0	1	0	0	0	1327	797	28	2		2	ATP6V0D2	8	86141483	Missense_Mutation	SNP	C	C3L-00279_TP	9435420	86141483	58997153	311	6386											
SLC7A13	0	.	GRCh38	chr8	86217689	86217689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagcaaaggcagctggccCtcttggcttgcaagatatat	12	10	10	9	0	1	1	0	0	1	1	1	1	1	1	1	3	3	5	1	3	6	5	rs527670230		C3L-00279_TP	C3L-00279_NB	C	C																c.960G>T	p.Glu320Asp	p.E320D	ENST00000297524	3/4	215	186	29	89	89	0	strelka-varscan	SLC7A13,missense_variant,p.Glu320Asp,ENST00000297524,NM_138817.2;SLC7A13,missense_variant,p.Glu311Asp,ENST00000419776,;SLC7A13,non_coding_transcript_exon_variant,,ENST00000520624,;	A	ENST00000297524	Transcript	missense_variant	1064/1878	960/1413	320/470	E/D	gaG/gaT	rs527670230	1		-1	SLC7A13	HGNC	HGNC:23092	protein_coding	YES	CCDS34917.1	ENSP00000297524	Q8TCU3		UPI000006DF39	NM_138817.2	tolerated(0.07)		3/4		hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF238,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	86217689	86217689	C	A	1	0	0	0	0	1	0	0	0	14978	680	24	2		2	SLC7A13	8	86217689	Missense_Mutation	SNP	C	C3L-00279_TP	76206	86217689	58920947	312	6387											
CDH17	0	.	GRCh38	chr8	94177650	94177650	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtaatacagaagtccctcCcgttctatcacaaatatgtt	12	14	5	10	1	2	1	1	0	1	1	4	1	4	1	2	0	1	3	2	0	6	7			C3L-00279_TP	C3L-00279_NB	C	C																c.222G>T	p.=	p.R74R	ENST00000027335	4/18	256	231	25	137	137	0	strelka-varscan	CDH17,synonymous_variant,p.=,ENST00000027335,NM_004063.3;CDH17,synonymous_variant,p.=,ENST00000450165,NM_001144663.1;CDH17,synonymous_variant,p.=,ENST00000441892,;CDH17,synonymous_variant,p.=,ENST00000521491,;	A	ENST00000027335	Transcript	synonymous_variant	347/3693	222/2499	74/832	R	cgG/cgT	COSM4405634	1		-1	CDH17	HGNC	HGNC:1756	protein_coding	YES	CCDS6260.1	ENSP00000027335	Q12864		UPI000013C546	NM_004063.3			4/18		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF292,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	14	94177650	94177650	C	A	1	0	0	0	0	0	0	0	1	2805	610	22	2		2	CDH17	8	94177650	Silent	SNP	C	C3L-00279_TP	7959961	94177650	50960986	313	6388											
CPQ	0	.	GRCh38	chr8	96879924	96879924	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaaaattgtcattcagctAaagatgggggcaaagaccta	16	9	9	7	0	3	2	3	0	0	2	3	2	3	2	1	2	1	2	1	2	6	4	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.768A>T	p.=	p.L256L	ENST00000220763	4/8	403	349	54	256	256	0	strelka-varscan	CPQ,synonymous_variant,p.=,ENST00000220763,NM_016134.3;	T	ENST00000220763	Transcript	synonymous_variant	978/1947	768/1419	256/472	L	ctA/ctT		1		1	CPQ	HGNC	HGNC:16910	protein_coding	YES	CCDS6273.1	ENSP00000220763	Q9Y646	A0A024R9B8	UPI00000706B8	NM_016134.3			4/8		hmmpanther:PTHR12053,hmmpanther:PTHR12053:SF3,Superfamily_domains:SSF53187																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	96879924	96879924	A	T	1	0	0	0	0	0	0	0	1	3618	349	13	4		4	CPQ	8	96879924	Silent	SNP	A	C3L-00279_TP	2702274	96879924	48258712	314	6389											
CPQ	0	.	GRCh38	chr8	97066197	97066197	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacatcaacttttggatccaAgctggagtgcctggtaagac	11	10	11	9	0	1	1	1	0	0	1	2	4	2	3	2	3	3	2	2	3	3	3	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.1242A>T	p.Gln414His	p.Q414H	ENST00000220763	7/8	191	163	28	176	176	0	strelka-varscan	CPQ,missense_variant,p.Gln414His,ENST00000220763,NM_016134.3;CPQ,missense_variant,p.Gln72His,ENST00000522617,;CPQ,non_coding_transcript_exon_variant,,ENST00000529551,;CPQ,non_coding_transcript_exon_variant,,ENST00000532528,;	T	ENST00000220763	Transcript	missense_variant	1452/1947	1242/1419	414/472	Q/H	caA/caT		1		1	CPQ	HGNC	HGNC:16910	protein_coding	YES	CCDS6273.1	ENSP00000220763	Q9Y646	A0A024R9B8	UPI00000706B8	NM_016134.3	tolerated(0.11)		7/8		Gene3D:3.40.630.10,Pfam_domain:PF04389,hmmpanther:PTHR12053,hmmpanther:PTHR12053:SF3,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	97066197	97066197	A	T	1	0	0	0	0	1	0	0	0	3618	69	3	4		4	CPQ	8	97066197	Missense_Mutation	SNP	A	C3L-00279_TP	186273	97066197	48072439	315	6390											
ZFPM2	0	.	GRCh38	chr8	105803015	105803015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aataaagaaagcaaaaggagCcgaccagctttctccatatt	17	8	7	9	1	1	1	0	0	1	1	2	3	1	2	3	1	3	2	3	1	7	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2933C>A	p.Ala978Asp	p.A978D	ENST00000407775	8/8	382	326	56	209	209	0	strelka-varscan-mutect	ZFPM2,missense_variant,p.Ala978Asp,ENST00000407775,NM_012082.3;ZFPM2,missense_variant,p.Ala846Asp,ENST00000520492,;ZFPM2,missense_variant,p.Ala846Asp,ENST00000517361,;ZFPM2-AS1,intron_variant,,ENST00000524045,;ZFPM2-AS1,intron_variant,,ENST00000520433,;ZFPM2-AS1,intron_variant,,ENST00000518932,;ZFPM2-AS1,intron_variant,,ENST00000520594,;ZFPM2-AS1,intron_variant,,ENST00000509144,;ZFPM2-AS1,intron_variant,,ENST00000521622,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;ZFPM2-AS1,intron_variant,,ENST00000520078,;	A	ENST00000407775	Transcript	missense_variant	3183/4700	2933/3456	978/1151	A/D	gCc/gAc		1		1	ZFPM2	HGNC	HGNC:16700	protein_coding	YES	CCDS47908.1	ENSP00000384179	Q8WW38		UPI000057A0B4	NM_012082.3	tolerated(0.3)		8/8		hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	105803015	105803015	C	A	1	0	0	0	0	1	0	0	0	18236	739	26	2		2	ZFPM2	8	105803015	Missense_Mutation	SNP	C	C3L-00279_TP	8736818	105803015	39335621	316	6391											
RSPO2	0	.	GRCh38	chr8	107989077	107989077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcacatctgttcatatctgGggctcggtgtccatagtacc	7	13	10	11	1	3	0	1	0	2	0	5	0	4	0	2	3	2	4	2	3	3	4	rs774354810		C3L-00279_TP	C3L-00279_NB	G	G																c.262C>A	p.Pro88Thr	p.P88T	ENST00000276659	3/6	211	190	21	265	265	0	strelka-varscan-mutect	RSPO2,missense_variant,p.Pro88Thr,ENST00000276659,NM_178565.4;RSPO2,missense_variant,p.Pro21Thr,ENST00000517939,NM_001317942.1;RSPO2,missense_variant,p.Pro21Thr,ENST00000521502,;RSPO2,missense_variant,p.Pro60Thr,ENST00000520026,;RSPO2,missense_variant,p.Pro21Thr,ENST00000521757,;RSPO2,missense_variant,p.Pro88Thr,ENST00000521956,;RSPO2,intron_variant,,ENST00000517781,NM_001282863.1;RSPO2,downstream_gene_variant,,ENST00000522333,;	T	ENST00000276659	Transcript	missense_variant	883/3111	262/732	88/243	P/T	Cca/Aca	rs774354810	1		-1	RSPO2	HGNC	HGNC:28583	protein_coding	YES	CCDS6307.1	ENSP00000276659	Q6UXX9		UPI000021046F	NM_178565.4	tolerated(0.08)		3/6		hmmpanther:PTHR23275:SF40,hmmpanther:PTHR23275,Gene3D:2.10.220.10,Pfam_domain:PF15913,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		rs774354810	.												T	3	4	14	107989077	107989077	G	T	1	0	0	0	0	1	0	0	0	13968	1232	43	2		2	RSPO2	8	107989077	Missense_Mutation	SNP	G	C3L-00279_TP	2186062	107989077	37149559	317	6392											
PKHD1L1	0	.	GRCh38	chr8	109430038	109430038	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcgataagcccttctcaagGtaacttcctgatttttaacc	10	13	7	11	1	1	1	1	1	1	0	3	2	2	1	3	2	3	1	3	2	4	7	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.3229+1G>T		p.X1077_splice	ENST00000378402		109	101	8	49	49	0	strelka-mutect	PKHD1L1,splice_donor_variant,,ENST00000378402,NM_177531.4;	T	ENST00000378402	Transcript	splice_donor_variant	-/13076	3229/12732	1077/4243				1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4				27/77																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	14	109430038	109430038	G	T	1	0	0	0	0	0	0	1	0	12068	1275	44	2		2	PKHD1L1	8	109430038	Splice_Site	SNP	G	C3L-00279_TP	1440961	109430038	35708598	318	6393											
PKHD1L1	0	.	GRCh38	chr8	109464503	109464503	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcttctgaatgatgatgtGaccccggctgcattttgggt	7	14	12	8	1	2	4	0	4	2	0	2	4	2	4	2	2	1	2	2	2	1	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.7671G>C	p.=	p.V2557V	ENST00000378402	49/78	314	285	29	241	241	0	strelka-varscan-mutect	PKHD1L1,synonymous_variant,p.=,ENST00000378402,NM_177531.4;	C	ENST00000378402	Transcript	synonymous_variant	7775/13076	7671/12732	2557/4243	V	gtG/gtC		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4			49/78																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	14	109464503	109464503	G	C	1	0	0	0	0	0	0	0	1	12068	1277	45	4		4	PKHD1L1	8	109464503	Silent	SNP	G	C3L-00279_TP	34465	109464503	35674133	319	6394											
CSMD3	0	.	GRCh38	chr8	112292652	112292652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaccacatcattaaagttGaacccatttccacttgttct	11	15	4	11	0	2	1	1	1	1	0	3	1	3	1	3	0	2	3	3	0	4	6	rs777412084		C3L-00279_TP	C3L-00279_NB	G	G																c.8673C>A	p.Phe2891Leu	p.F2891L	ENST00000297405	55/71	469	415	54	300	300	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Phe2891Leu,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Phe2851Leu,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Phe2722Leu,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Phe2161Leu,ENST00000339701,;	T	ENST00000297405	Transcript	missense_variant	8918/13212	8673/11124	2891/3707	F/L	ttC/ttA	rs777412084	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		55/71		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		rs777412084	.												T	3	4	14	112292652	112292652	G	T	1	0	0	0	0	1	0	0	0	3747	1281	45	2		2	CSMD3	8	112292652	Missense_Mutation	SNP	G	C3L-00279_TP	2828149	112292652	32845984	320	6395											
CSMD3	0	.	GRCh38	chr8	112301943	112301943	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttatttccatttggaggtgTaggtagttctccacaggaaa	10	14	10	7	0	1	0	0	0	1	0	3	2	2	2	2	4	0	3	2	4	4	6	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.8290A>T	p.Thr2764Ser	p.T2764S	ENST00000297405	53/71	312	275	37	203	203	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Thr2764Ser,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Thr2724Ser,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Thr2595Ser,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Thr2034Ser,ENST00000339701,;	A	ENST00000297405	Transcript	missense_variant	8535/13212	8290/11124	2764/3707	T/S	Aca/Tca		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	tolerated(0.57)		53/71		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	112301943	112301943	T	A	1	0	0	0	0	1	0	0	0	3747	1638	57	4		4	CSMD3	8	112301943	Missense_Mutation	SNP	T	C3L-00279_TP	9291	112301943	32836693	321	6396											
COL14A1	0	.	GRCh38	chr8	120147846	120147846	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagcggaaaataaaatgAagattttccagcgcaagatg	20	7	9	5	2	0	3	0	1	0	2	1	4	1	4	1	1	2	1	1	1	8	3	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.4A>G	p.Lys2Glu	p.K2E	ENST00000297848	2/48	226	188	38	136	136	0	strelka-varscan-mutect	COL14A1,missense_variant,p.Lys2Glu,ENST00000297848,NM_021110.2;COL14A1,missense_variant,p.Lys2Glu,ENST00000309791,;COL14A1,missense_variant,p.Lys2Glu,ENST00000537875,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;COL14A1,missense_variant,p.Lys2Glu,ENST00000498051,;	G	ENST00000297848	Transcript	missense_variant	274/6466	4/5391	2/1796	K/E	Aag/Gag		1		1	COL14A1	HGNC	HGNC:2191	protein_coding	YES	CCDS34938.1	ENSP00000297848	Q05707		UPI000046D377	NM_021110.2	tolerated_low_confidence(0.06)		2/48																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	14	120147846	120147846	A	G	1	0	0	0	0	1	0	0	0	3459	247	9	5		5	COL14A1	8	120147846	Missense_Mutation	SNP	A	C3L-00279_TP	7845903	120147846	24990790	322	6397											
FER1L6	0	.	GRCh38	chr8	124049720	124049720	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttttgtgggaatctctcTggaggggatctccttgctgt	5	16	12	8	0	4	0	0	0	4	0	6	3	4	3	1	4	1	1	1	4	1	3	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.2838T>C	p.=	p.S946S	ENST00000522917	22/41	286	258	28	238	238	0	strelka-varscan-mutect	FER1L6,synonymous_variant,p.=,ENST00000522917,NM_001039112.2;FER1L6-AS2,intron_variant,,ENST00000520031,;	C	ENST00000522917	Transcript	synonymous_variant	3044/6051	2838/5574	946/1857	S	tcT/tcC		1		1	FER1L6	HGNC	HGNC:28065	protein_coding	YES	CCDS43767.1	ENSP00000428280	Q2WGJ9		UPI0000E9B4AA	NM_001039112.2			22/41		hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	14	124049720	124049720	T	C	1	0	0	0	0	0	0	0	1	5678	1567	55	5		5	FER1L6	8	124049720	Silent	SNP	T	C3L-00279_TP	3901874	124049720	21088916	323	6398											
LRRC6	0	.	GRCh38	chr8	132625294	132625294	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatttttcctgtttcttccGttgtttttccatgtgtctaa	5	23	5	8	1	2	0	0	0	2	0	5	0	5	0	3	0	0	3	3	0	2	9	rs780609401		C3L-00279_TP	C3L-00279_NB	G	G																c.814C>A	p.=	p.R272R	ENST00000620350	6/12	98	84	14	28	28	0	strelka-varscan-mutect	LRRC6,synonymous_variant,p.=,ENST00000620350,NM_012472.4;LRRC6,synonymous_variant,p.=,ENST00000618342,;LRRC6,synonymous_variant,p.=,ENST00000519595,;LRRC6,synonymous_variant,p.=,ENST00000518642,;LRRC6,synonymous_variant,p.=,ENST00000250173,;LRRC6,synonymous_variant,p.=,ENST00000522789,;LRRC6,upstream_gene_variant,,ENST00000519085,;LRRC6,non_coding_transcript_exon_variant,,ENST00000520446,;LRRC6,downstream_gene_variant,,ENST00000523503,;LRRC6,upstream_gene_variant,,ENST00000522597,;	T	ENST00000620350	Transcript	synonymous_variant	938/1878	814/1401	272/466	R	Cgg/Agg	rs780609401	1		-1	LRRC6	HGNC	HGNC:16725	protein_coding	YES	CCDS6365.1	ENSP00000484634	Q86X45		UPI000000DBC5	NM_012472.4			6/12		hmmpanther:PTHR24365,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs780609401	.												T	2	4	14	132625294	132625294	G	T	1	0	0	0	0	0	0	0	1	8911	1144	40	1		1	LRRC6	8	132625294	Silent	SNP	G	C3L-00279_TP	8575574	132625294	12513342	324	6399											
TG	0	.	GRCh38	chr8	133096242	133096242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctttccactactggggtCctgtgatcgatggccacttc	5	12	10	14	1	0	1	0	1	0	0	4	2	2	1	4	3	1	0	4	3	1	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.7441C>A	p.Pro2481Thr	p.P2481T	ENST00000220616	43/48	280	248	32	247	247	0	strelka-varscan-mutect	TG,missense_variant,p.Pro2481Thr,ENST00000220616,NM_003235.4;TG,missense_variant,p.Pro937Thr,ENST00000519178,;TG,missense_variant,p.Pro614Thr,ENST00000519543,;SLA,intron_variant,,ENST00000338087,NM_001045556.2;SLA,intron_variant,,ENST00000395352,NM_001045557.2;SLA,intron_variant,,ENST00000524345,NM_001282965.1;SLA,intron_variant,,ENST00000517648,NM_001282964.1;SLA,intron_variant,,ENST00000519341,;SLA,intron_variant,,ENST00000522119,;SLA,intron_variant,,ENST00000521302,;SLA,intron_variant,,ENST00000523610,;SLA,intron_variant,,ENST00000519558,;SLA,intron_variant,,ENST00000519747,;SLA,intron_variant,,ENST00000518565,;SLA,intron_variant,,ENST00000521823,;SLA,intron_variant,,ENST00000517932,;SLA,intron_variant,,ENST00000522946,;TG,3_prime_UTR_variant,,ENST00000523756,;TG,non_coding_transcript_exon_variant,,ENST00000522996,;TG,non_coding_transcript_exon_variant,,ENST00000522809,;	A	ENST00000220616	Transcript	missense_variant	7481/8450	7441/8307	2481/2768	P/T	Cct/Act		1		1	TG	HGNC	HGNC:11764	protein_coding	YES	CCDS34944.1	ENSP00000220616	P01266		UPI000013C79F	NM_003235.4	deleterious(0)		43/48		Gene3D:3.40.50.1820,Pfam_domain:PF00135,PIRSF_domain:PIRSF001831,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	133096242	133096242	C	A	1	0	0	0	0	1	0	0	0	16246	855	30	2		2	TG	8	133096242	Missense_Mutation	SNP	C	C3L-00279_TP	470948	133096242	12042394	325	6400											
MAFA	0	.	GRCh38	chr8	143429414	143429414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcggcgaaggctcccgcggGaaaccggccccgcccgcgct	5	2	16	18	8	0	0	0	0	0	0	1	2	1	1	5	5	1	2	5	5	2	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.993C>A	p.Phe331Leu	p.F331L	ENST00000333480	1/1	176	152	24	176	176	0	strelka-varscan-mutect	MAFA,missense_variant,p.Phe331Leu,ENST00000333480,NM_201589.3;MAFA,intron_variant,,ENST00000528185,;	T	ENST00000333480	Transcript	missense_variant	993/2347	993/1062	331/353	F/L	ttC/ttA		1		-1	MAFA	HGNC	HGNC:23145	protein_coding	YES	CCDS34955.1	ENSP00000328364	Q8NHW3		UPI00001B0366	NM_201589.3	tolerated(0.65)		1/1		hmmpanther:PTHR10129:SF30,hmmpanther:PTHR10129																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	14	143429414	143429414	G	T	1	0	0	0	0	1	0	0	0	9073	1165	41	2		2	MAFA	8	143429414	Missense_Mutation	SNP	G	C3L-00279_TP	10333172	143429414	1709222	326	6401											
EPPK1	0	.	GRCh38	chr8	143867533	143867533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaggctcatgacctccctGgtggagggcaccgtgacccc	6	7	14	14	1	1	2	1	2	0	0	2	4	2	4	5	5	0	2	5	5	0	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.5721C>T	p.=	p.T1907T	ENST00000615648	2/2	200	157	43	207	206	1	strelka-varscan-mutect	EPPK1,synonymous_variant,p.=,ENST00000615648,NM_031308.3;EPPK1,synonymous_variant,p.=,ENST00000568225,;	A	ENST00000615648	Transcript	synonymous_variant	5793/16002	5721/15267	1907/5088	T	acC/acT		1		-1	EPPK1	HGNC	HGNC:15577	protein_coding	YES	CCDS75800.1	ENSP00000484472		A0A087X1U6	UPI0002065B93	NM_031308.3			2/2		Gene3D:3.90.1290.10,Pfam_domain:PF00681,SMART_domains:SM00250,Superfamily_domains:SSF75399																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	14	143867533	143867533	G	A	1	0	0	0	0	0	0	0	1	5038	1335	47	3		3	EPPK1	8	143867533	Silent	SNP	G	C3L-00279_TP	438119	143867533	1271103	327	6402											
KIFC2	0	.	GRCh38	chr8	144468551	144468551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagctgggggtgcaggagGtgcagctgcagggccttcaa	7	6	19	9	0	1	0	1	0	0	0	1	1	1	1	1	6	5	6	1	6	1	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.904G>T	p.Val302Leu	p.V302L	ENST00000301332	9/17	137	114	23	85	84	1	strelka-varscan-mutect	KIFC2,missense_variant,p.Val302Leu,ENST00000301332,NM_145754.3;FOXH1,downstream_gene_variant,,ENST00000377317,NM_003923.2;CYHR1,upstream_gene_variant,,ENST00000438911,NM_138496.1;CYHR1,upstream_gene_variant,,ENST00000403000,NM_032687.3;CYHR1,upstream_gene_variant,,ENST00000306145,;CYHR1,upstream_gene_variant,,ENST00000424149,NM_001129888.1;CYHR1,upstream_gene_variant,,ENST00000526887,;CYHR1,upstream_gene_variant,,ENST00000533764,;CYHR1,upstream_gene_variant,,ENST00000530637,;CTD-2517M22.16,downstream_gene_variant,,ENST00000525461,;KIFC2,upstream_gene_variant,,ENST00000531423,;KIFC2,upstream_gene_variant,,ENST00000531425,;KIFC2,downstream_gene_variant,,ENST00000533114,;KIFC2,downstream_gene_variant,,ENST00000529644,;CYHR1,upstream_gene_variant,,ENST00000524623,;KIFC2,upstream_gene_variant,,ENST00000529864,;	T	ENST00000301332	Transcript	missense_variant	1281/3646	904/2517	302/838	V/L	Gtg/Ttg		1		1	KIFC2	HGNC	HGNC:29530	protein_coding	YES	CCDS6427.1	ENSP00000301332	Q96AC6		UPI000006D3B2	NM_145754.3	tolerated(0.45)		9/17		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	144468551	144468551	G	T	1	0	0	0	0	1	0	0	0	8178	1261	44	2		2	KIFC2	8	144468551	Missense_Mutation	SNP	G	C3L-00279_TP	601018	144468551	670085	328	6403											
RFX3	0	.	GRCh38	chr9	3257101	3257101	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaagccacgcagcccaCtgctccagggtgctctgctg	6	9	11	15	1	2	0	1	0	1	0	3	0	3	0	3	1	5	4	3	1	1	1	rs780925118		C3L-00279_TP	C3L-00279_NB	C	C																c.1704G>T	p.Gln568His	p.Q568H	ENST00000382004	15/18	500	443	57	453	453	0	strelka-varscan-mutect	RFX3,missense_variant,p.Gln568His,ENST00000382004,NM_134428.2;RFX3,missense_variant,p.Gln568His,ENST00000617270,NM_001282116.1;RFX3,missense_variant,p.Gln568His,ENST00000358730,NM_002919.3;RFX3,missense_variant,p.Gln141His,ENST00000458034,;RFX3,missense_variant,p.Gln33His,ENST00000449234,;	A	ENST00000382004	Transcript	missense_variant	2016/9307	1704/2250	568/749	Q/H	caG/caT	rs780925118	1		-1	RFX3	HGNC	HGNC:9984	protein_coding	YES	CCDS6449.1	ENSP00000371434	P48380		UPI0000070BFB	NM_134428.2	deleterious(0)		15/18		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF20																	MODERATE	1	SNV	1			1										PASS		rs780925118	.												A	3	1	14	3257101	3257101	C	A	1	0	0	0	0	1	0	0	0	13438	564	20	2		2	RFX3	9	3257101	Missense_Mutation	SNP	C	C3L-00279_TP		3257101	135137616	329	6404											
SPATA31A1	0	.	GRCh38	chr9	39361655	39361655	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgaaaagtgtgcggtgcaAcaatgagcaatggggcctgc	11	8	14	8	1	0	2	0	2	0	0	0	2	0	2	1	3	5	2	1	3	5	1	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.3932A>G	p.Asn1311Ser	p.N1311S	ENST00000377647	4/4	606	569	37	614	614	0	varscan-mutect	SPATA31A1,missense_variant,p.Asn1311Ser,ENST00000377647,NM_001085452.2;RP11-347J14.4,intron_variant,,ENST00000615174,;SPATA31A1,downstream_gene_variant,,ENST00000473440,;	G	ENST00000377647	Transcript	missense_variant	3952/4256	3932/4086	1311/1361	N/S	aAc/aGc		1		1	SPATA31A1	HGNC	HGNC:23394	protein_coding	YES	CCDS43808.2	ENSP00000366875		A0A0R4J2F1	UPI0001AE6DFD	NM_001085452.2	tolerated(0.25)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	39361655	39361655	A	G	1	0	0	0	0	1	0	0	0	15343	43	2	5		5	SPATA31A1	9	39361655	Missense_Mutation	SNP	A	C3L-00279_TP	36104554	39361655	99033062	330	6405											
TRPM3	0	.	GRCh38	chr9	70625299	70625299	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccaggccgatgtcaatCaggctgattctgtagtctgg	9	11	11	10	1	5	1	3	1	2	0	5	2	5	1	2	3	0	2	2	3	2	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1665G>T	p.=	p.L555L	ENST00000377110	13/25	272	246	26	244	244	0	strelka-varscan-mutect	TRPM3,synonymous_variant,p.=,ENST00000377110,NM_001007471.2;TRPM3,synonymous_variant,p.=,ENST00000360823,NM_206944.3,NM_206947.3;TRPM3,synonymous_variant,p.=,ENST00000377105,NM_024971.5;TRPM3,synonymous_variant,p.=,ENST00000357533,;TRPM3,synonymous_variant,p.=,ENST00000396292,NM_206946.3;TRPM3,synonymous_variant,p.=,ENST00000358082,;TRPM3,synonymous_variant,p.=,ENST00000396285,NM_020952.4;TRPM3,synonymous_variant,p.=,ENST00000408909,;TRPM3,synonymous_variant,p.=,ENST00000396280,NM_206945.3;TRPM3,synonymous_variant,p.=,ENST00000377111,;	A	ENST00000377110	Transcript	synonymous_variant	1909/12258	1665/5124	555/1707	L	ctG/ctT		1		-1	TRPM3	HGNC	HGNC:17992	protein_coding	YES	CCDS43835.1	ENSP00000366314	Q9HCF6		UPI0001596895	NM_001007471.2			13/25		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	70625299	70625299	C	A	1	0	0	0	0	0	0	0	1	17093	813	29	2		2	TRPM3	9	70625299	Silent	SNP	C	C3L-00279_TP	31263644	70625299	67769418	331	6406											
TMEM2	0	.	GRCh38	chr9	71729914	71729914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccagaaagttgaaacagcCctgcaaggcatttttcaagg	14	9	9	9	0	1	2	1	1	0	1	2	2	2	2	2	2	3	3	2	2	4	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1980G>T	p.Met660Ile	p.M660I	ENST00000377044	10/24	189	173	16	85	85	0	strelka-varscan-mutect	TMEM2,missense_variant,p.Met660Ile,ENST00000377044,NM_013390.2;TMEM2,missense_variant,p.Met597Ile,ENST00000377066,NM_001135820.1;TMEM2,splice_region_variant,,ENST00000542935,;TMEM2,downstream_gene_variant,,ENST00000546219,;	A	ENST00000377044	Transcript	missense_variant,splice_region_variant	2520/6523	1980/4152	660/1383	M/I	atG/atT		1		-1	TMEM2	HGNC	HGNC:11869	protein_coding	YES	CCDS6638.1	ENSP00000366243	Q9UHN6	A0A024R229	UPI0000071E8D	NM_013390.2	tolerated(0.42)		10/24		hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF17																	MODERATE	1	SNV	1			1										PASS		rs1385395303	.												A	3	1	14	71729914	71729914	C	A	1	0	0	0	0	1	0	0	0	16561	637	22	2		2	TMEM2	9	71729914	Missense_Mutation	SNP	C	C3L-00279_TP	1104615	71729914	66664803	332	6407											
PCSK5	0	.	GRCh38	chr9	76023877	76023877	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatccagatctgatgcaaaActacgtgagtgtatgctgtg	11	11	10	9	1	1	3	0	2	1	1	2	3	2	3	2	0	4	3	2	0	4	2	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.551A>T	p.Asn184Ile	p.N184I	ENST00000545128	4/37	88	77	11	78	78	0	strelka-varscan-mutect	PCSK5,missense_variant,p.Asn184Ile,ENST00000545128,NM_001190482.1;PCSK5,missense_variant,p.Asn184Ile,ENST00000376752,NM_006200.5;PCSK5,missense_variant,p.Asn184Ile,ENST00000376767,;	T	ENST00000545128	Transcript	missense_variant	1089/9538	551/5583	184/1860	N/I	aAc/aTc		1		1	PCSK5	HGNC	HGNC:8747	protein_coding	YES	CCDS55320.1	ENSP00000446280	Q92824		UPI0001DAD817	NM_001190482.1	deleterious(0)		4/37		hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF378,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	76023877	76023877	A	T	1	0	0	0	0	1	0	0	0	11691	57	2	4		4	PCSK5	9	76023877	Missense_Mutation	SNP	A	C3L-00279_TP	4293963	76023877	62370840	333	6408											
SPATA31D1	0	.	GRCh38	chr9	81993697	81993697	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatactgacaatgatcttaCagaaagtgtccggacaacag	15	9	9	8	1	1	4	0	3	1	1	2	5	2	5	1	1	3	0	1	1	5	2			C3L-00279_TP	C3L-00279_NB	C	C																c.3227C>A	p.Thr1076Lys	p.T1076K	ENST00000344803	4/4	227	215	12	193	193	0	strelka-varscan-mutect	SPATA31D1,missense_variant,p.Thr1076Lys,ENST00000344803,NM_001001670.2;RP11-15B24.5,intron_variant,,ENST00000637606,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	A	ENST00000344803	Transcript	missense_variant	3274/4833	3227/4731	1076/1576	T/K	aCa/aAa	COSM4164055,COSM4164056	1		1	SPATA31D1	HGNC	HGNC:37283	protein_coding	YES	CCDS47986.1	ENSP00000341988	Q6ZQQ2		UPI00001C10A6	NM_001001670.2	tolerated(0.81)		4/4		hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												A	3	1	14	81993697	81993697	C	A	1	0	0	0	0	1	0	0	0	15347	478	17	2		2	SPATA31D1	9	81993697	Missense_Mutation	SNP	C	C3L-00279_TP	5969820	81993697	56401020	334	6409											
AUH	0	.	GRCh38	chr9	91325334	91325334	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaatatcgttaatcacTgctcttattttggagacaaa	13	15	5	8	1	2	1	1	0	1	1	3	2	2	1	1	1	2	2	1	1	6	6	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.489A>T	p.=	p.A163A	ENST00000375731	4/10	339	311	28	124	124	0	strelka-varscan-mutect	AUH,synonymous_variant,p.=,ENST00000375731,NM_001698.2;AUH,intron_variant,,ENST00000303617,NM_001306190.1;AUH,non_coding_transcript_exon_variant,,ENST00000478465,;	A	ENST00000375731	Transcript	synonymous_variant	513/1577	489/1020	163/339	A	gcA/gcT		1		-1	AUH	HGNC	HGNC:890	protein_coding	YES	CCDS6689.1	ENSP00000364883	Q13825		UPI0000072F64	NM_001698.2			4/10		hmmpanther:PTHR11941:SF12,hmmpanther:PTHR11941,Pfam_domain:PF00378,Gene3D:3.90.226.10,Superfamily_domains:SSF52096																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	91325334	91325334	T	A	1	0	0	0	0	0	0	0	1	1374	1567	55	4		4	AUH	9	91325334	Silent	SNP	T	C3L-00279_TP	9331637	91325334	47069383	335	6410											
PTPDC1	0	.	GRCh38	chr9	94097985	94097985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtgcctgcccagatcttGgttggccacaagcccaggca	9	7	11	14	0	1	1	0	0	1	1	1	1	1	1	4	3	3	2	4	3	1	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1419G>C	p.Leu473Phe	p.L473F	ENST00000620992	6/9	332	294	38	332	332	0	strelka-varscan-mutect	PTPDC1,missense_variant,p.Leu419Phe,ENST00000375360,NM_177995.2,NM_001253830.1;PTPDC1,missense_variant,p.Leu473Phe,ENST00000620992,NM_001253829.1;PTPDC1,missense_variant,p.Leu471Phe,ENST00000288976,NM_152422.4;PTPDC1,upstream_gene_variant,,ENST00000467049,;	C	ENST00000620992	Transcript	missense_variant	1521/4437	1419/2427	473/808	L/F	ttG/ttC		1		1	PTPDC1	HGNC	HGNC:30184	protein_coding	YES	CCDS75860.1	ENSP00000477817		A0A087WTF0	UPI0000E0BDFA	NM_001253829.1	tolerated(0.17)		6/9		hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF72																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	14	94097985	94097985	G	C	1	0	0	0	0	1	0	0	0	12930	1339	47	4		4	PTPDC1	9	94097985	Missense_Mutation	SNP	G	C3L-00279_TP	2772651	94097985	44296732	336	6411											
TRIM14	0	.	GRCh38	chr9	98094892	98094892	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggcgaatgtccaatggCgtctgtaatgtactctccac	10	12	9	10	2	2	0	0	0	2	0	4	1	3	0	2	2	1	2	2	2	5	3	rs760786474		C3L-00279_TP	C3L-00279_NB	C	C																c.675G>C	p.=	p.T225T	ENST00000341469	4/6	133	120	13	139	139	0	strelka-varscan-mutect	TRIM14,synonymous_variant,p.=,ENST00000341469,NM_014788.3;TRIM14,synonymous_variant,p.=,ENST00000375098,;TRIM14,synonymous_variant,p.=,ENST00000342043,NM_033219.2;TRIM14,non_coding_transcript_exon_variant,,ENST00000478401,;TRIM14,3_prime_UTR_variant,,ENST00000475147,;	G	ENST00000341469	Transcript	synonymous_variant	685/4454	675/1329	225/442	T	acG/acC	rs760786474	1		-1	TRIM14	HGNC	HGNC:16283	protein_coding	YES	CCDS6734.1	ENSP00000344208	Q14142	A0A024R165	UPI0000137065	NM_014788.3			4/6		hmmpanther:PTHR24103:SF35,hmmpanther:PTHR24103																	LOW	1	SNV	1			1										PASS		rs760786474	.												G	2	3	14	98094892	98094892	C	G	1	0	0	0	0	0	0	0	1	16978	755	27	4		4	TRIM14	9	98094892	Silent	SNP	C	C3L-00279_TP	3996907	98094892	40299825	337	6412											
GABBR2	0	.	GRCh38	chr9	98306339	98306339	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaagctaagaaacaacCgaacaactgaaatggtgaac	18	5	7	11	1	0	3	0	2	0	1	1	4	1	3	2	1	6	1	2	1	8	1			C3L-00279_TP	C3L-00279_NB	C	C																c.2011G>C	p.Gly671Arg	p.G671R	ENST00000259455	15/19	238	222	16	260	260	0	strelka-varscan-mutect	GABBR2,missense_variant,p.Gly671Arg,ENST00000259455,NM_005458.7;GABBR2,missense_variant,p.Gly80Arg,ENST00000634457,;GABBR2,non_coding_transcript_exon_variant,,ENST00000637410,;GABBR2,non_coding_transcript_exon_variant,,ENST00000635462,;GABBR2,upstream_gene_variant,,ENST00000636575,;GABBR2,non_coding_transcript_exon_variant,,ENST00000634354,;	G	ENST00000259455	Transcript	missense_variant	2471/5788	2011/2826	671/941	G/R	Ggt/Cgt	COSM3652218	1		-1	GABBR2	HGNC	HGNC:4507	protein_coding	YES	CCDS6736.1	ENSP00000259455	O75899	H9NIL8	UPI0000035832	NM_005458.7	deleterious(0)		15/19		Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF40,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		rs1388019965	.												G	3	3	14	98306339	98306339	C	G	1	0	0	0	0	1	0	0	0	6027	652	23	4		4	GABBR2	9	98306339	Missense_Mutation	SNP	C	C3L-00279_TP	211447	98306339	40088378	338	6413											
ANKS6	0	.	GRCh38	chr9	98783954	98783954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggggctggcactgaccCatggtaggttgcctgcatga	6	9	16	10	1	0	2	0	2	0	0	0	2	0	2	2	5	2	5	2	5	1	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1111G>T	p.Gly371Trp	p.G371W	ENST00000353234	4/15	67	61	6	54	54	0	strelka-varscan-mutect	ANKS6,missense_variant,p.Gly371Trp,ENST00000353234,NM_173551.3;ANKS6,missense_variant,p.Gly70Trp,ENST00000375019,;ANKS6,splice_region_variant,,ENST00000634393,;ANKS6,non_coding_transcript_exon_variant,,ENST00000486778,;ANKS6,non_coding_transcript_exon_variant,,ENST00000466120,;	A	ENST00000353234	Transcript	missense_variant,splice_region_variant	1159/7164	1111/2616	371/871	G/W	Ggg/Tgg		1		-1	ANKS6	HGNC	HGNC:26724	protein_coding	YES	CCDS43856.1	ENSP00000297837	Q68DC2		UPI0000530317	NM_173551.3	deleterious(0)		4/15		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR10627:SF39,hmmpanther:PTHR10627,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs898782506	.												A	3	1	14	98783954	98783954	C	A	1	0	0	0	0	1	0	0	0	798	608	21	2		2	ANKS6	9	98783954	Missense_Mutation	SNP	C	C3L-00279_TP	477615	98783954	39610763	339	6414											
OR13F1	0	.	GRCh38	chr9	104504475	104504475	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctctcctttctggacatCtggtactcctcttctgccct	5	16	5	15	0	5	0	0	0	5	0	8	1	7	1	3	2	2	1	3	2	2	3			C3L-00279_TP	C3L-00279_NB	C	C																c.213C>A	p.=	p.I71I	ENST00000334726	1/1	217	202	15	180	180	0	strelka-varscan-mutect	OR13F1,synonymous_variant,p.=,ENST00000334726,NM_001004485.1;	A	ENST00000334726	Transcript	synonymous_variant	213/960	213/960	71/319	I	atC/atA	COSM752210	1		1	OR13F1	HGNC	HGNC:14723	protein_coding	YES	CCDS35087.1	ENSP00000334452	Q8NGS4		UPI0000041B47	NM_001004485.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF61,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix											1						LOW	1	SNV			1	1										PASS		.	.												A	2	1	14	104504475	104504475	C	A	1	0	0	0	0	0	0	0	1	11017	903	32	2		2	OR13F1	9	104504475	Silent	SNP	C	C3L-00279_TP	5720521	104504475	33890242	340	6415											
OR13C5	0	.	GRCh38	chr9	104598806	104598806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcaataggaacaatgttGtggtcacaagcaggatgaac	14	9	12	6	0	2	1	2	1	0	0	2	3	2	3	0	3	3	2	0	3	6	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.608C>A	p.Thr203Lys	p.T203K	ENST00000374779	1/1	258	239	19	164	164	0	strelka-varscan-mutect	OR13C5,missense_variant,p.Thr203Lys,ENST00000374779,NM_001004482.1;	T	ENST00000374779	Transcript	missense_variant	608/957	608/957	203/318	T/K	aCa/aAa		1		-1	OR13C5	HGNC	HGNC:15100	protein_coding	YES	CCDS35091.1	ENSP00000363911	Q8NGS8		UPI0000041D12	NM_001004482.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF121,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	14	104598806	104598806	G	T	1	0	0	0	0	1	0	0	0	11013	1377	48	2		2	OR13C5	9	104598806	Missense_Mutation	SNP	G	C3L-00279_TP	94331	104598806	33795911	341	6416											
OR13C2	0	.	GRCh38	chr9	104605158	104605158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacaaacactgattgtactGcagaattgacagctcctatg	13	10	7	11	0	0	3	0	2	0	1	1	3	1	3	2	0	4	3	2	0	4	4	rs768722886		C3L-00279_TP	C3L-00279_NB	G	G																c.470C>A	p.Ala157Glu	p.A157E	ENST00000542196	1/1	224	195	29	180	180	0	varscan-mutect	OR13C2,missense_variant,p.Ala157Glu,ENST00000542196,NM_001004481.1;	T	ENST00000542196	Transcript	missense_variant	470/957	470/957	157/318	A/E	gCa/gAa	rs768722886	1		-1	OR13C2	HGNC	HGNC:14701	protein_coding	YES	CCDS35092.1	ENSP00000438815	Q8NGS9	A0A126GWR7	UPI0000041B29	NM_001004481.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF279,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs768722886	.												T	3	4	14	104605158	104605158	G	T	1	0	0	0	0	1	0	0	0	11010	1319	46	2		2	OR13C2	9	104605158	Missense_Mutation	SNP	G	C3L-00279_TP	6352	104605158	33789559	342	6417											
HDHD3	0	.	GRCh38	chr9	113373937	113373937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggatgccctctagccGtcggtcaaagttggagatca	9	8	11	13	2	3	1	2	0	1	1	4	3	3	2	4	3	2	1	4	3	2	2	rs76975306		C3L-00279_TP	C3L-00279_NB	G	G																c.418C>T	p.Arg140Trp	p.R140W	ENST00000238379	2/2	243	227	16	196	196	0	strelka-varscan-mutect	HDHD3,missense_variant,p.Arg140Trp,ENST00000238379,NM_031219.3;HDHD3,missense_variant,p.Arg140Trp,ENST00000374180,NM_001304509.1,NM_001304510.1,NM_001304511.1;BSPRY,downstream_gene_variant,,ENST00000374183,NM_001317943.1,NM_017688.2;HDHD3,non_coding_transcript_exon_variant,,ENST00000485934,;BSPRY,downstream_gene_variant,,ENST00000462085,;	A	ENST00000238379	Transcript	missense_variant	1316/1834	418/756	140/251	R/W	Cgg/Tgg	rs76975306	1		-1	HDHD3	HGNC	HGNC:28171	protein_coding	YES	CCDS6793.1	ENSP00000238379	Q9BSH5		UPI0000073CC1	NM_031219.3	deleterious(0)		2/2		Gene3D:3.40.50.1000,Pfam_domain:PF13419,hmmpanther:PTHR12725,hmmpanther:PTHR12725:SF74,Low_complexity_(Seg):seg,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01549,TIGRFAM_domain:TIGR02252																	MODERATE	1	SNV	1			1										PASS		rs76975306	.												A	3	1	14	113373937	113373937	G	A	1	0	0	0	0	1	0	0	0	6907	1144	40	1		1	HDHD3	9	113373937	Missense_Mutation	SNP	G	C3L-00279_TP	8768779	113373937	25020780	343	6418											
ASTN2	0	.	GRCh38	chr9	116620328	116620328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccggctgcagaagggggCtgcagttggggagcccattg	8	6	17	10	1	0	1	0	0	0	1	0	2	0	2	2	5	3	5	2	5	1	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.3035G>T	p.Ser1012Ile	p.S1012I	ENST00000361209	17/22	287	262	25	243	242	1	strelka-varscan-mutect	ASTN2,missense_variant,p.Ser1063Ile,ENST00000313400,;ASTN2,missense_variant,p.Ser1012Ile,ENST00000361209,NM_014010.4;ASTN2,missense_variant,p.Ser115Ile,ENST00000361477,NM_198187.3;ASTN2,missense_variant,p.Ser786Ile,ENST00000373986,;ASTN2,missense_variant,p.Ser115Ile,ENST00000358637,NM_001184735.1;ASTN2,missense_variant,p.Ser164Ile,ENST00000288520,NM_198186.3;ASTN2,missense_variant,p.Ser115Ile,ENST00000341734,NM_001184734.1,NM_198188.2;	A	ENST00000361209	Transcript	missense_variant	3167/4622	3035/3867	1012/1288	S/I	aGc/aTc		1		-1	ASTN2	HGNC	HGNC:17021	protein_coding	YES	CCDS6815.1	ENSP00000354504	O75129		UPI00002116D7	NM_014010.4	deleterious(0)		17/22		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	116620328	116620328	C	A	1	0	0	0	0	1	0	0	0	1212	797	28	2		2	ASTN2	9	116620328	Missense_Mutation	SNP	C	C3L-00279_TP	3246391	116620328	21774389	344	6419											
TLR4	0	.	GRCh38	chr9	117713628	117713628	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagctgagaaacttgaccttCctggacctctctcagtgtca	9	11	9	12	0	3	2	2	2	1	1	5	5	4	3	3	1	2	1	3	1	1	2	rs556171096		C3L-00279_TP	C3L-00279_NB	C	C																c.1500C>A	p.Phe500Leu	p.F500L	ENST00000355622	3/3	285	262	23	166	166	0	strelka-varscan-mutect	TLR4,missense_variant,p.Phe500Leu,ENST00000355622,NM_138554.4;TLR4,missense_variant,p.Phe460Leu,ENST00000394487,NM_003266.3;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,downstream_gene_variant,,ENST00000490685,;	A	ENST00000355622	Transcript	missense_variant	1601/4844	1500/2520	500/839	F/L	ttC/ttA	rs556171096	1		1	TLR4	HGNC	HGNC:11850	protein_coding	YES	CCDS6818.1	ENSP00000363089	O00206		UPI0000137057	NM_138554.4	tolerated(0.45)		3/3		PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		rs556171096	.												A	3	1	14	117713628	117713628	C	A	1	0	0	0	0	1	0	0	0	16399	854	30	2		2	TLR4	9	117713628	Missense_Mutation	SNP	C	C3L-00279_TP	1093300	117713628	20681089	345	6420											
CDK5RAP2	0	.	GRCh38	chr9	120439585	120439585	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggattttcacgtgtttcacgTatcgcacttggtgcaaactt	8	15	9	9	3	2	0	2	0	0	0	3	1	2	1	0	2	2	4	0	2	2	6	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.3536A>T	p.Tyr1179Phe	p.Y1179F	ENST00000349780	24/38	318	286	32	295	295	0	strelka-varscan-mutect	CDK5RAP2,missense_variant,p.Tyr1179Phe,ENST00000349780,NM_018249.5;CDK5RAP2,missense_variant,p.Tyr1179Phe,ENST00000360190,NM_001011649.2;CDK5RAP2,missense_variant,p.Tyr949Phe,ENST00000360822,NM_001272039.1;CDK5RAP2,missense_variant,p.Tyr573Phe,ENST00000416449,;CDK5RAP2,missense_variant,p.Tyr189Phe,ENST00000425647,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000468989,;CDK5RAP2,downstream_gene_variant,,ENST00000479584,;CDK5RAP2,3_prime_UTR_variant,,ENST00000473282,;CDK5RAP2,3_prime_UTR_variant,,ENST00000480112,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000483412,;	A	ENST00000349780	Transcript	missense_variant	3716/6228	3536/5682	1179/1893	Y/F	tAc/tTc		1		-1	CDK5RAP2	HGNC	HGNC:18672	protein_coding	YES	CCDS6823.1	ENSP00000343818	Q96SN8		UPI0000367673	NM_018249.5	deleterious(0.04)		24/38																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	120439585	120439585	T	A	1	0	0	0	0	1	0	0	0	2850	1638	57	4		4	CDK5RAP2	9	120439585	Missense_Mutation	SNP	T	C3L-00279_TP	2725957	120439585	17955132	346	6421											
AL513122.1	0	.	GRCh38	chr9	121329282	121329282	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcaggaagacctggcaacGgatgacgtcatgcttctgga	11	8	13	9	2	2	2	1	1	1	1	2	5	2	5	1	4	3	3	1	4	2	1	rs759980004		C3L-00279_TP	C3L-00279_NB	G	G																c.2085G>T	p.=	p.T695T	ENST00000373818	15/17	673	615	58	612	611	1	strelka-varscan-mutect	GSN,synonymous_variant,p.=,ENST00000373823,NM_001127664.1,NM_198252.2,NM_001127662.1,NM_001127665.1;GSN,synonymous_variant,p.=,ENST00000373818,NM_000177.4;GSN,synonymous_variant,p.=,ENST00000545652,NM_001258030.1;GSN,synonymous_variant,p.=,ENST00000394353,NM_001258029.1;AL513122.1,synonymous_variant,p.=,ENST00000449733,NM_001127663.1;AL513122.2,synonymous_variant,p.=,ENST00000373808,NM_001127667.1,NM_001127666.1;GSN,3_prime_UTR_variant,,ENST00000373806,;GSN,non_coding_transcript_exon_variant,,ENST00000373807,;GSN,non_coding_transcript_exon_variant,,ENST00000477553,;	T	ENST00000373818	Transcript	synonymous_variant	2154/2657	2085/2349	695/782	T	acG/acT	rs759980004,COSM4643299,COSM4643300,COSM4643301	1		1	GSN	HGNC	HGNC:4620	protein_coding	YES	CCDS6828.1	ENSP00000362924	P06396		UPI000012B3B4	NM_000177.4			15/17		hmmpanther:PTHR11977:SF29,hmmpanther:PTHR11977,Gene3D:3.40.20.10,Pfam_domain:PF00626,SMART_domains:SM00262,Superfamily_domains:SSF55753,Prints_domain:PR00597											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs759980004	.												T	2	4	14	121329282	121329282	G	T	1	0	0	0	0	0	0	0	1	579	1103	39	1		1	AL513122.1	9	121329282	Silent	SNP	G	C3L-00279_TP	889697	121329282	17065435	347	6422											
OR1J1	0	.	GRCh38	chr9	122477404	122477404	+	Missense_Mutation	SNP	G	G	T																															aaggtcacagaagtagtgagGgatgatgtggtcagcacaga																								novel		C3L-00279_TP	C3L-00279_NB	G	G																c.523C>A	p.Pro175Thr	p.P175T	ENST00000259357	1/1	268	251	17	266	266	0	strelka-varscan-mutect	OR1J1,missense_variant,p.Pro175Thr,ENST00000259357,NM_001004451.1;RP11-542K23.9,downstream_gene_variant,,ENST00000412262,;	T	ENST00000259357	Transcript	missense_variant	523/969	523/969	175/322	P/T	Cct/Act		1		-1	OR1J1	HGNC	HGNC:8208	protein_coding	YES	CCDS35120.1	ENSP00000259357	Q8NGS3	A0A126GWP9	UPI0000061E79	NM_001004451.1	deleterious_low_confidence(0.05)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF213,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												T	3	4	14	122477404	122477404	G	T	1	0	0	0	0	1	0	0	0	11037	1232	43	2		2	OR1J1	9	122477404	Missense_Mutation	SNP	G	C3L-00279_TP	1148122	122477404	15917313	348	6423	149	2									
OR1J1	0	.	GRCh38	chr9	122477405	122477405	+	Silent	SNP	G	G	T																															aggtcacagaagtagtgaggGatgatgtggtcagcacagaa																								novel		C3L-00279_TP	C3L-00279_NB	G	G																c.522C>A	p.=	p.I174I	ENST00000259357	1/1	268	251	17	268	268	0	strelka-varscan-mutect	OR1J1,synonymous_variant,p.=,ENST00000259357,NM_001004451.1;RP11-542K23.9,downstream_gene_variant,,ENST00000412262,;	T	ENST00000259357	Transcript	synonymous_variant	522/969	522/969	174/322	I	atC/atA		1		-1	OR1J1	HGNC	HGNC:8208	protein_coding	YES	CCDS35120.1	ENSP00000259357	Q8NGS3	A0A126GWP9	UPI0000061E79	NM_001004451.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF213,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW		SNV				1										PASS		.	.												T	2	4	14	122477405	122477405	G	T	1	0	0	0	0	0	0	0	1	11037	1164	41	2		2	OR1J1	9	122477405	Silent	SNP	G	C3L-00279_TP	1	122477405	15917312	349	6424	149	2									
OR1K1	0	.	GRCh38	chr9	122800476	122800476	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagctgtcttctggcggcCatggcctatgactgctacgt	6	12	12	11	2	2	1	0	1	2	0	2	2	2	1	2	3	3	2	2	3	3	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.354C>A	p.=	p.A118A	ENST00000277309	1/1	253	224	29	222	222	0	strelka-varscan-mutect	OR1K1,synonymous_variant,p.=,ENST00000277309,NM_080859.1;PDCL,intron_variant,,ENST00000436632,;	A	ENST00000277309	Transcript	synonymous_variant	354/951	354/951	118/316	A	gcC/gcA		1		1	OR1K1	HGNC	HGNC:8212	protein_coding	YES	CCDS35132.1	ENSP00000277309	Q8NGR3	A0A126GVB9	UPI000004B1FE	NM_080859.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF331,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs1455504694	.												A	2	1	14	122800476	122800476	C	A	1	0	0	0	0	0	0	0	1	11040	581	21	2		2	OR1K1	9	122800476	Silent	SNP	C	C3L-00279_TP	323071	122800476	15594241	350	6425											
LHX2	0	.	GRCh38	chr9	124015356	124015356	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttcaaccatgccgacgtGgcagcggcggccgctgcagc	7	5	13	16	5	1	0	1	0	0	0	1	1	1	0	3	3	5	3	3	3	1	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.558G>T	p.=	p.V186V	ENST00000373615	3/5	210	191	19	203	202	1	strelka-varscan-mutect	LHX2,synonymous_variant,p.=,ENST00000373615,NM_004789.3;LHX2,synonymous_variant,p.=,ENST00000446480,;LHX2,synonymous_variant,p.=,ENST00000560961,;LHX2,upstream_gene_variant,,ENST00000488674,;RP11-85O21.4,downstream_gene_variant,,ENST00000421041,;	T	ENST00000373615	Transcript	synonymous_variant	1297/2554	558/1221	186/406	V	gtG/gtT		1		1	LHX2	HGNC	HGNC:6594	protein_coding	YES	CCDS6853.1	ENSP00000362717	P50458		UPI000012E659	NM_004789.3			3/5		Low_complexity_(Seg):seg,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF90																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	124015356	124015356	G	T	1	0	0	0	0	0	0	0	1	8680	1335	47	2		2	LHX2	9	124015356	Silent	SNP	G	C3L-00279_TP	1214880	124015356	14379361	351	6426											
LMX1B	0	.	GRCh38	chr9	126693244	126693244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacccgcggaggcccaagcGaccccggaccatcctcacca	9	2	11	19	4	1	0	1	0	0	0	2	4	2	3	7	4	1	0	7	4	1	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.662G>T	p.Arg221Leu	p.R221L	ENST00000355497	4/8	461	427	34	485	483	2	strelka-varscan-mutect	LMX1B,missense_variant,p.Arg221Leu,ENST00000355497,NM_001174146.1;LMX1B,missense_variant,p.Arg221Leu,ENST00000373474,NM_001174147.1;LMX1B,missense_variant,p.Arg198Leu,ENST00000561065,;LMX1B,missense_variant,p.Arg221Leu,ENST00000526117,NM_002316.3;	T	ENST00000355497	Transcript	missense_variant	669/5809	662/1221	221/406	R/L	cGa/cTa		1		1	LMX1B	HGNC	HGNC:6654	protein_coding	YES	CCDS55343.1	ENSP00000347684	O60663		UPI0001CE94D0	NM_001174146.1	deleterious(0)		4/8		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF96,Low_complexity_(Seg):seg,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		rs1329660584	.												T	3	4	14	126693244	126693244	G	T	1	0	0	0	0	1	0	0	0	8789	1058	37	1		1	LMX1B	9	126693244	Missense_Mutation	SNP	G	C3L-00279_TP	2677888	126693244	11701473	352	6427											
LMX1B	0	.	GRCh38	chr9	126695896	126695896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacacgccgctggccccacCacagcagcagatcgtggcca	9	4	10	18	3	0	1	0	0	0	1	1	1	0	1	5	2	3	3	5	2	1	1	rs756003941		C3L-00279_TP	C3L-00279_NB	C	C																c.977C>A	p.Pro326Gln	p.P326Q	ENST00000355497	7/8	227	206	21	184	184	0	strelka-varscan-mutect	LMX1B,missense_variant,p.Pro326Gln,ENST00000355497,NM_001174146.1;LMX1B,missense_variant,p.Pro315Gln,ENST00000373474,NM_001174147.1;LMX1B,missense_variant,p.Pro303Gln,ENST00000561065,;LMX1B,missense_variant,p.Pro315Gln,ENST00000526117,NM_002316.3;	A	ENST00000355497	Transcript	missense_variant	984/5809	977/1221	326/406	P/Q	cCa/cAa	rs756003941,COSM390693	1		1	LMX1B	HGNC	HGNC:6654	protein_coding	YES	CCDS55343.1	ENSP00000347684	O60663		UPI0001CE94D0	NM_001174146.1	tolerated(0.09)		7/8		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF96											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs756003941	.												A	3	1	14	126695896	126695896	C	A	1	0	0	0	0	1	0	0	0	8789	594	21	2		2	LMX1B	9	126695896	Missense_Mutation	SNP	C	C3L-00279_TP	2652	126695896	11698821	353	6428											
RALGPS1	0	.	GRCh38	chr9	126962305	126962305	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agactatgtacaagaggaatGgtctgatggctagcgtgttg	11	11	14	5	1	1	3	0	1	1	2	1	4	1	4	0	3	2	3	0	3	5	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.16G>C	p.Gly6Arg	p.G6R	ENST00000259351	2/19	275	252	23	318	318	0	strelka-varscan-mutect	RALGPS1,missense_variant,p.Gly6Arg,ENST00000259351,NM_014636.2;RALGPS1,missense_variant,p.Gly6Arg,ENST00000373434,NM_001190728.1;RALGPS1,missense_variant,p.Gly6Arg,ENST00000424082,NM_001322320.1,NM_001190729.1;RALGPS1,missense_variant,p.Gly6Arg,ENST00000394022,;RALGPS1,missense_variant,p.Gly6Arg,ENST00000373436,NM_001190730.1;RALGPS1,missense_variant,p.Gly6Arg,ENST00000394011,;RALGPS1,missense_variant,p.Gly6Arg,ENST00000319107,;RALGPS1,non_coding_transcript_exon_variant,,ENST00000480993,;RALGPS1,non_coding_transcript_exon_variant,,ENST00000472427,;RALGPS1,non_coding_transcript_exon_variant,,ENST00000373439,;	C	ENST00000259351	Transcript	missense_variant	283/6336	16/1674	6/557	G/R	Ggt/Cgt		1		1	RALGPS1	HGNC	HGNC:16851	protein_coding	YES	CCDS35143.1	ENSP00000259351	Q5JS13		UPI000006D3AF	NM_014636.2	deleterious_low_confidence(0)		2/19																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	14	126962305	126962305	G	C	1	0	0	0	0	1	0	0	0	13176	1348	47	4		4	RALGPS1	9	126962305	Missense_Mutation	SNP	G	C3L-00279_TP	266409	126962305	11432412	354	6429											
ANGPTL2	0	.	GRCh38	chr9	127108141	127108141	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctcctcaagctgcgcGatgatctctgattggttgtg	6	13	12	10	2	2	2	1	2	1	0	4	3	3	2	1	1	3	3	1	1	1	2	rs777044764		C3L-00279_TP	C3L-00279_NB	G	G																c.591C>A	p.=	p.I197I	ENST00000373425	2/5	163	138	25	156	155	1	strelka-varscan-mutect	ANGPTL2,synonymous_variant,p.=,ENST00000373425,NM_012098.2;RALGPS1,intron_variant,,ENST00000259351,NM_014636.2;ANGPTL2,intron_variant,,ENST00000373417,;RALGPS1,intron_variant,,ENST00000373434,NM_001190728.1;RALGPS1,intron_variant,,ENST00000424082,NM_001322320.1,NM_001190729.1;RALGPS1,intron_variant,,ENST00000394022,;RALGPS1,intron_variant,,ENST00000373436,NM_001190730.1;ANGPTL2,upstream_gene_variant,,ENST00000491991,;ANGPTL2,upstream_gene_variant,,ENST00000470194,;	T	ENST00000373425	Transcript	synonymous_variant	1209/3707	591/1482	197/493	I	atC/atA	rs777044764	1		-1	ANGPTL2	HGNC	HGNC:490	protein_coding	YES	CCDS6868.1	ENSP00000362524	Q9UKU9	A0A024R868	UPI0000049E07	NM_012098.2			2/5		hmmpanther:PTHR19143:SF24,hmmpanther:PTHR19143																	LOW	1	SNV	1			1										PASS		rs777044764	.												T	2	4	14	127108141	127108141	G	T	1	0	0	0	0	0	0	0	1	712	1048	37	1		1	ANGPTL2	9	127108141	Silent	SNP	G	C3L-00279_TP	145836	127108141	11286576	355	6430											
RALGDS	0	.	GRCh38	chr9	133108264	133108264	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccggagctggtgctggagcTacttctagctctgaacctgg	6	11	13	11	1	2	1	0	1	2	0	3	3	3	3	2	4	6	4	2	4	3	3	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.921A>T	p.=	p.V307V	ENST00000372050	6/18	156	140	16	104	104	0	strelka-varscan-mutect	RALGDS,synonymous_variant,p.=,ENST00000393160,NM_001042368.2;RALGDS,synonymous_variant,p.=,ENST00000393157,NM_001271775.1;RALGDS,synonymous_variant,p.=,ENST00000372050,NM_006266.3;RALGDS,synonymous_variant,p.=,ENST00000372047,NM_001271776.1;RALGDS,synonymous_variant,p.=,ENST00000372062,NM_001271774.1;RALGDS,upstream_gene_variant,,ENST00000424572,;RALGDS,upstream_gene_variant,,ENST00000460587,;RALGDS,synonymous_variant,p.=,ENST00000493438,;RALGDS,non_coding_transcript_exon_variant,,ENST00000469972,;RALGDS,non_coding_transcript_exon_variant,,ENST00000482648,;RALGDS,upstream_gene_variant,,ENST00000471109,;RALGDS,upstream_gene_variant,,ENST00000493067,;	A	ENST00000372050	Transcript	synonymous_variant	943/3634	921/2745	307/914	V	gtA/gtT		1		-1	RALGDS	HGNC	HGNC:9842	protein_coding	YES	CCDS6959.1	ENSP00000361120	Q12967		UPI000012B8BC	NM_006266.3			6/18		hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF35,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	133108264	133108264	T	A	1	0	0	0	0	0	0	0	1	13175	1509	53	4		4	RALGDS	9	133108264	Silent	SNP	T	C3L-00279_TP	6000123	133108264	5286453	356	6431											
PMPCA	0	.	GRCh38	chr9	136418576	136418576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaggacttcatcccctttGcagtgttgaacatgatgatg	10	12	11	8	0	1	3	1	3	0	0	2	5	2	5	2	2	2	2	2	2	1	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1012G>T	p.Ala338Ser	p.A338S	ENST00000371717	9/13	133	117	16	124	124	0	strelka-mutect	PMPCA,missense_variant,p.Ala46Ser,ENST00000444897,;PMPCA,missense_variant,p.Ala338Ser,ENST00000371717,NM_015160.2;PMPCA,missense_variant,p.Ala207Ser,ENST00000399219,NM_001282946.1,NM_001282944.1;PMPCA,downstream_gene_variant,,ENST00000610649,;PMPCA,non_coding_transcript_exon_variant,,ENST00000462616,;PMPCA,downstream_gene_variant,,ENST00000612553,;PMPCA,downstream_gene_variant,,ENST00000622209,;PMPCA,downstream_gene_variant,,ENST00000371720,;PMPCA,downstream_gene_variant,,ENST00000620895,;	T	ENST00000371717	Transcript	missense_variant	1111/2174	1012/1578	338/525	A/S	Gca/Tca		1		1	PMPCA	HGNC	HGNC:18667	protein_coding	YES	CCDS35180.1	ENSP00000360782	Q10713		UPI00000703D3	NM_015160.2	deleterious(0)		9/13		Gene3D:3.30.830.10,Pfam_domain:PF05193,hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF49,Superfamily_domains:SSF63411																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	136418576	136418576	G	T	1	0	0	0	0	1	0	0	0	12247	1319	46	2		2	PMPCA	9	136418576	Missense_Mutation	SNP	G	C3L-00279_TP	3310312	136418576	1976141	357	6432											
IL2RA	0	.	GRCh38	chr10	6025958	6025958	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcacagttcaacatggtTccttccttgtaggccatggc	8	13	8	12	0	2	0	2	0	0	0	4	0	4	0	3	3	1	3	3	3	2	6	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.132A>T	p.=	p.G44G	ENST00000379959	2/8	383	359	24	328	328	0	strelka-varscan-mutect	IL2RA,synonymous_variant,p.=,ENST00000379959,NM_000417.2;IL2RA,synonymous_variant,p.=,ENST00000379954,NM_001308242.1;IL2RA,synonymous_variant,p.=,ENST00000256876,;IL2RA,synonymous_variant,p.=,ENST00000447847,;RP11-536K7.5,upstream_gene_variant,,ENST00000440436,;	A	ENST00000379959	Transcript	synonymous_variant	306/3176	132/819	44/272	G	ggA/ggT		1		-1	IL2RA	HGNC	HGNC:6008	protein_coding	YES	CCDS7076.1	ENSP00000369293	P01589		UPI000012D4A3	NM_000417.2			2/8		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR10573,hmmpanther:PTHR10573:SF0,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	6025958	6025958	T	A	1	0	0	0	0	0	0	0	1	7585	1770	62	4		4	IL2RA	10	6025958	Silent	SNP	T	C3L-00279_TP		6025958	127771464	358	6433											
SFMBT2	0	.	GRCh38	chr10	7243615	7243615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccactgtactggcaaaatccCcaaagaatctgcatggcaca	14	7	7	13	0	1	1	0	0	1	1	2	1	2	1	3	2	2	4	3	2	5	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1063G>T	p.Gly355Trp	p.G355W	ENST00000397167	9/21	231	216	15	137	136	1	strelka-varscan-mutect	SFMBT2,missense_variant,p.Gly355Trp,ENST00000397167,NM_001029880.2;SFMBT2,missense_variant,p.Gly355Trp,ENST00000361972,NM_001018039.1;	A	ENST00000397167	Transcript	missense_variant	1256/8024	1063/2685	355/894	G/W	Ggg/Tgg		1		-1	SFMBT2	HGNC	HGNC:20256	protein_coding	YES	CCDS31138.1	ENSP00000380353	Q5VUG0		UPI00001C1EDF	NM_001029880.2	deleterious(0)		9/21		PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62,Pfam_domain:PF02820,Gene3D:2.30.30.160,SMART_domains:SM00561,Superfamily_domains:SSF63748																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	14	7243615	7243615	C	A	1	0	0	0	0	1	0	0	0	14436	623	22	2		2	SFMBT2	10	7243615	Missense_Mutation	SNP	C	C3L-00279_TP	1217657	7243615	126553807	359	6434											
DHTKD1	0	.	GRCh38	chr10	12084589	12084589	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacttgaggaagtgttagtCtatctcaatcaaatctactg	12	14	7	8	0	5	1	3	1	3	0	6	2	5	2	0	1	1	1	0	1	6	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.360C>G	p.=	p.V120V	ENST00000263035	3/17	370	342	28	271	271	0	strelka-varscan-mutect	DHTKD1,synonymous_variant,p.=,ENST00000263035,NM_018706.6;DHTKD1,synonymous_variant,p.=,ENST00000437298,;DHTKD1,upstream_gene_variant,,ENST00000415935,;DHTKD1,intron_variant,,ENST00000465617,;	G	ENST00000263035	Transcript	synonymous_variant	422/5159	360/2760	120/919	V	gtC/gtG		1		1	DHTKD1	HGNC	HGNC:23537	protein_coding	YES	CCDS7087.1	ENSP00000263035	Q96HY7		UPI000013D38C	NM_018706.6			3/17		hmmpanther:PTHR23152:SF11,hmmpanther:PTHR23152,PIRSF_domain:PIRSF000157,TIGRFAM_domain:TIGR00239,Superfamily_domains:SSF52518																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	14	12084589	12084589	C	G	1	0	0	0	0	0	0	0	1	4304	900	32	4		4	DHTKD1	10	12084589	Silent	SNP	C	C3L-00279_TP	4840974	12084589	121712833	360	6435											
SEPHS1	0	.	GRCh38	chr10	13344859	13344859	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacatcttggggcactttgCagcctgtgcccttcagttca	6	12	11	12	0	3	0	2	0	1	0	3	1	3	1	2	3	3	3	2	3	0	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.92G>T	p.Cys31Phe	p.C31F	ENST00000327347	2/9	132	125	7	126	126	0	varscan-mutect	SEPHS1,missense_variant,p.Cys31Phe,ENST00000327347,NM_012247.4;SEPHS1,missense_variant,p.Cys31Phe,ENST00000378614,NM_001195604.1;SEPHS1,missense_variant,p.Cys31Phe,ENST00000413411,;SEPHS1,intron_variant,,ENST00000545675,NM_001195602.1;SEPHS1,upstream_gene_variant,,ENST00000425947,;SEPHS1,non_coding_transcript_exon_variant,,ENST00000494329,;	A	ENST00000327347	Transcript	missense_variant	468/3273	92/1179	31/392	C/F	tGc/tTc		1		-1	SEPHS1	HGNC	HGNC:19685	protein_coding	YES	CCDS7098.1	ENSP00000367893	P49903		UPI0000135E82	NM_012247.4	deleterious(0)		2/9		PIRSF_domain:PIRSF036407,hmmpanther:PTHR10256,hmmpanther:PTHR10256:SF2,Superfamily_domains:SSF55326,TIGRFAM_domain:TIGR00476																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	13344859	13344859	C	A	1	0	0	0	0	1	0	0	0	14330	710	25	2		2	SEPHS1	10	13344859	Missense_Mutation	SNP	C	C3L-00279_TP	1260270	13344859	120452563	361	6436											
CUBN	0	.	GRCh38	chr10	16877038	16877038	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggggtggacatgacgcTgtaacctctgataatgtgca	12	10	12	7	1	1	2	0	2	1	0	1	3	1	3	1	3	2	3	1	3	3	2	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.8965A>T	p.Ser2989Cys	p.S2989C	ENST00000377833	57/67	684	609	75	680	680	0	strelka-varscan-mutect	CUBN,missense_variant,p.Ser2989Cys,ENST00000377833,NM_001081.3;	A	ENST00000377833	Transcript	missense_variant	9031/11949	8965/10872	2989/3623	S/C	Agc/Tgc		1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3	deleterious(0.02)		57/67		PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		rs1466992790	.												A	3	1	14	16877038	16877038	T	A	1	0	0	0	0	1	0	0	0	3861	1580	55	4		4	CUBN	10	16877038	Missense_Mutation	SNP	T	C3L-00279_TP	3532179	16877038	116920384	362	6437											
VIM	0	.	GRCh38	chr10	17234767	17234767	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagcaggagtccactgagtaCcggagacaggtgcagtccct	11	6	13	11	1	0	2	0	1	0	1	2	4	2	3	3	3	3	3	3	3	2	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.957C>T	p.=	p.Y319Y	ENST00000544301	6/10	556	502	54	534	534	0	strelka-varscan-mutect	VIM,synonymous_variant,p.=,ENST00000544301,NM_003380.3;VIM,synonymous_variant,p.=,ENST00000224237,;VIM,synonymous_variant,p.=,ENST00000421459,;VIM,downstream_gene_variant,,ENST00000478317,;VIM,downstream_gene_variant,,ENST00000478746,;RP11-124N14.3,non_coding_transcript_exon_variant,,ENST00000456355,;VIM-AS1,upstream_gene_variant,,ENST00000605833,;VIM,non_coding_transcript_exon_variant,,ENST00000495528,;VIM,downstream_gene_variant,,ENST00000485947,;VIM,downstream_gene_variant,,ENST00000637053,;VIM,synonymous_variant,p.=,ENST00000469543,;VIM,synonymous_variant,p.=,ENST00000487938,;	T	ENST00000544301	Transcript	synonymous_variant	1370/2128	957/1401	319/466	Y	taC/taT		1		1	VIM	HGNC	HGNC:12692	protein_coding	YES	CCDS7120.1	ENSP00000446007	P08670	V9HWE1	UPI00000012EB	NM_003380.3			6/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF27,Pfam_domain:PF00038,SMART_domains:SM01391																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	17234767	17234767	C	T	1	0	0	0	0	0	0	0	1	17712	518	18	3		3	VIM	10	17234767	Silent	SNP	C	C3L-00279_TP	357729	17234767	116562655	363	6438											
SKIDA1	0	.	GRCh38	chr10	21517443	21517443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttccaaaatcccgggcggGggctggcggcagcggcgcgc	5	4	17	15	6	0	0	0	0	0	0	2	0	2	0	3	6	1	2	3	6	2	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.380C>A	p.Pro127His	p.P127H	ENST00000449193	4/4	65	56	9	76	76	0	strelka-varscan-mutect	SKIDA1,missense_variant,p.Pro127His,ENST00000449193,NM_207371.3;SKIDA1,missense_variant,p.Pro127His,ENST00000444772,;SKIDA1,downstream_gene_variant,,ENST00000633225,;SKIDA1,downstream_gene_variant,,ENST00000487107,;	T	ENST00000449193	Transcript	missense_variant	2633/6598	380/2727	127/908	P/H	cCc/cAc		1		-1	SKIDA1	HGNC	HGNC:32697	protein_coding	YES	CCDS44363.1	ENSP00000410041		E9PAX1	UPI00015386B3	NM_207371.3	tolerated(0.1)		4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR23187:SF2,hmmpanther:PTHR23187																	MODERATE	1	SNV	3			1										PASS		.	.												T	3	4	14	21517443	21517443	G	T	1	0	0	0	0	1	0	0	0	14620	1232	43	2		2	SKIDA1	10	21517443	Missense_Mutation	SNP	G	C3L-00279_TP	4282676	21517443	112279979	364	6439											
KIAA1217	0	.	GRCh38	chr10	24546104	24546104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagagcctcactcatacagGtaaaggtcaccatctttcat	12	11	6	12	0	6	1	5	0	1	1	6	1	6	1	2	2	2	1	2	2	3	3	rs768673575		C3L-00279_TP	C3L-00279_NB	G	G																c.5612G>T	p.Gly1871Val	p.G1871V	ENST00000376454	21/21	319	276	43	292	290	2	strelka-varscan-mutect	KIAA1217,missense_variant,p.Gly1871Val,ENST00000376454,NM_019590.4;KIAA1217,missense_variant,p.Gly1192Val,ENST00000376462,NM_001098500.2;KIAA1217,missense_variant,p.Gly1302Val,ENST00000376452,NM_001282767.1;KIAA1217,missense_variant,p.Gly1277Val,ENST00000458595,NM_001282768.1;KIAA1217,missense_variant,p.Gly1192Val,ENST00000430453,;KIAA1217,3_prime_UTR_variant,,ENST00000376451,;KIAA1217,3_prime_UTR_variant,,ENST00000396445,;KIAA1217,downstream_gene_variant,,ENST00000307544,NM_001282769.1;KIAA1217,downstream_gene_variant,,ENST00000396446,NM_001282770.1;KIAA1217,downstream_gene_variant,,ENST00000635163,;KIAA1217,downstream_gene_variant,,ENST00000492009,;	T	ENST00000376454	Transcript	missense_variant	5642/7381	5612/5832	1871/1943	G/V	gGt/gTt	rs768673575	1		1	KIAA1217	HGNC	HGNC:25428	protein_coding	YES	CCDS31165.1	ENSP00000365637	Q5T5P2		UPI000013EC2A	NM_019590.4	deleterious(0.01)		21/21		hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4																	MODERATE	1	SNV	1			1										PASS		rs768673575	.												T	3	4	14	24546104	24546104	G	T	1	0	0	0	0	1	0	0	0	8109	1261	44	2		2	KIAA1217	10	24546104	Missense_Mutation	SNP	G	C3L-00279_TP	3028661	24546104	109251318	365	6440											
GPR158	0	.	GRCh38	chr10	25598085	25598085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaagaaatcccacagcaCttatgaccacgtgagagacc	15	6	7	13	1	1	4	1	2	0	2	2	5	2	4	3	0	1	1	3	0	3	1	rs748910742		C3L-00279_TP	C3L-00279_NB	C	C																c.2459C>A	p.Thr820Asn	p.T820N	ENST00000376351	11/11	307	279	28	225	225	0	strelka-varscan-mutect	GPR158,missense_variant,p.Thr820Asn,ENST00000376351,NM_020752.2;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	A	ENST00000376351	Transcript	missense_variant	2818/6959	2459/3648	820/1215	T/N	aCt/aAt	rs748910742	1		1	GPR158	HGNC	HGNC:23689	protein_coding	YES	CCDS31166.1	ENSP00000365529	Q5T848		UPI0000199875	NM_020752.2	deleterious(0.01)		11/11		hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546																	MODERATE	1	SNV	1			1										PASS		rs748910742	.												A	3	1	14	25598085	25598085	C	A	1	0	0	0	0	1	0	0	0	6549	565	20	2		2	GPR158	10	25598085	Missense_Mutation	SNP	C	C3L-00279_TP	1051981	25598085	108199337	366	6441											
MYO3A	0	.	GRCh38	chr10	26125496	26125496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caattatacgacccaatactGtagaaaaagctaccgatgtc	16	9	6	10	2	0	1	0	0	0	1	1	3	0	1	2	0	4	2	2	0	9	5	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2002G>A	p.Val668Ile	p.V668I	ENST00000265944	19/35	549	512	37	323	323	0	strelka-varscan-mutect	MYO3A,missense_variant,p.Val668Ile,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;	A	ENST00000265944	Transcript	missense_variant	2168/5581	2002/4851	668/1616	V/I	Gta/Ata		1		1	MYO3A	HGNC	HGNC:7601	protein_coding	YES	CCDS7148.1	ENSP00000265944	Q8NEV4		UPI000014140A	NM_017433.4	deleterious(0.04)		19/35		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF387,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	26125496	26125496	G	A	1	0	0	0	0	1	0	0	0	10077	1377	48	3		3	MYO3A	10	26125496	Missense_Mutation	SNP	G	C3L-00279_TP	527411	26125496	107671926	367	6442											
FXYD4	0	.	GRCh38	chr10	43375549	43375549	+	Missense_Mutation	SNP	A	A	T																															tctgcggagggctcctggccAttgctgggatcgcggcagtt																								novel		C3L-00279_TP	C3L-00279_NB	A	A																c.148A>T	p.Ile50Phe	p.I50F	ENST00000616495	5/8	338	308	30	329	329	0	strelka-varscan-mutect	FXYD4,missense_variant,p.Ile50Phe,ENST00000616495,;FXYD4,missense_variant,p.Ile50Phe,ENST00000476166,NM_173160.2;FXYD4,non_coding_transcript_exon_variant,,ENST00000480834,;FXYD4,intron_variant,,ENST00000479189,;	T	ENST00000616495	Transcript	missense_variant	487/778	148/270	50/89	I/F	Att/Ttt		1		1	FXYD4	HGNC	HGNC:4028	protein_coding	YES	CCDS7203.1	ENSP00000483791	P59646		UPI0000160F0C		tolerated(0.09)		5/8		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR14132,hmmpanther:PTHR14132:SF10,Pfam_domain:PF02038,Gene3D:1.20.5.780																	MODERATE	1	SNV	5			1										PASS		rs1176800508	.												T	3	4	14	43375549	43375549	A	T	1	0	0	0	0	1	0	0	0	5991	217	8	4		4	FXYD4	10	43375549	Missense_Mutation	SNP	A	C3L-00279_TP	17250053	43375549	90421873	368	6443	150	2									
FXYD4	0	.	GRCh38	chr10	43375550	43375550	+	Missense_Mutation	SNP	T	T	A																															ctgcggagggctcctggccaTtgctgggatcgcggcagttc																								novel		C3L-00279_TP	C3L-00279_NB	T	T																c.149T>A	p.Ile50Asn	p.I50N	ENST00000616495	5/8	339	308	31	330	330	0	strelka-varscan-mutect	FXYD4,missense_variant,p.Ile50Asn,ENST00000616495,;FXYD4,missense_variant,p.Ile50Asn,ENST00000476166,NM_173160.2;FXYD4,non_coding_transcript_exon_variant,,ENST00000480834,;FXYD4,intron_variant,,ENST00000479189,;	A	ENST00000616495	Transcript	missense_variant	488/778	149/270	50/89	I/N	aTt/aAt		1		1	FXYD4	HGNC	HGNC:4028	protein_coding	YES	CCDS7203.1	ENSP00000483791	P59646		UPI0000160F0C		deleterious(0.01)		5/8		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR14132,hmmpanther:PTHR14132:SF10,Pfam_domain:PF02038,Gene3D:1.20.5.780																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	14	43375550	43375550	T	A	1	0	0	0	0	1	0	0	0	5991	1493	52	4		4	FXYD4	10	43375550	Missense_Mutation	SNP	T	C3L-00279_TP	1	43375550	90421872	369	6444	150	2									
AGAP4	0	.	GRCh38	chr10	45847239	45847239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcctgccatcctgtcccCagctcctgcctcatagatct	5	11	6	19	1	2	1	1	0	1	1	6	1	6	1	7	0	3	2	7	0	1	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.109G>T	p.Gly37Trp	p.G37W	ENST00000448048	1/7	967	883	84	1043	1043	0	varscan-mutect	AGAP4,missense_variant,p.Gly37Trp,ENST00000616763,;AGAP4,missense_variant,p.Gly37Trp,ENST00000311652,;AGAP4,missense_variant,p.Gly37Trp,ENST00000448048,NM_133446.3;AGAP4,missense_variant,p.Gly37Trp,ENST00000618171,NM_001276343.2;AGAP4,upstream_gene_variant,,ENST00000492347,;AGAP4,non_coding_transcript_exon_variant,,ENST00000430779,;AGAP4,non_coding_transcript_exon_variant,,ENST00000490752,;AGAP4,upstream_gene_variant,,ENST00000495243,;	A	ENST00000448048	Transcript	missense_variant	235/2439	109/1992	37/663	G/W	Ggg/Tgg		1		-1	AGAP4	HGNC	HGNC:23459	protein_coding	YES	CCDS7215.1	ENSP00000392513	Q96P64		UPI000013ED67	NM_133446.3	deleterious_low_confidence(0)		1/7		Low_complexity_(Seg):seg,hmmpanther:PTHR23180:SF213,hmmpanther:PTHR23180																	MODERATE	1	SNV	1			1										PASS		rs1371059894	.												A	3	1	14	45847239	45847239	C	A	1	0	0	0	0	1	0	0	0	447	594	21	2		2	AGAP4	10	45847239	Missense_Mutation	SNP	C	C3L-00279_TP	2471689	45847239	87950183	370	6445											
C10orf71	0	.	GRCh38	chr10	49325301	49325301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cattcttggtacatcgacacCcactaacacacggggcacac	12	7	7	15	2	1	0	0	0	1	0	2	1	1	0	1	3	2	2	1	3	2	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2756C>A	p.Pro919His	p.P919H	ENST00000374144	3/3	340	314	26	339	339	0	strelka-varscan-mutect	C10orf71,missense_variant,p.Pro919His,ENST00000374144,NM_001135196.1;	A	ENST00000374144	Transcript	missense_variant	3044/5230	2756/4308	919/1435	P/H	cCc/cAc		1		1	C10orf71	HGNC	HGNC:26973	protein_coding	YES	CCDS44387.1	ENSP00000363259	Q711Q0		UPI0000161572	NM_001135196.1	tolerated(0.11)		3/3		hmmpanther:PTHR33775																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	49325301	49325301	C	A	1	0	0	0	0	1	0	0	0	1769	623	22	2		2	C10orf71	10	49325301	Missense_Mutation	SNP	C	C3L-00279_TP	3478062	49325301	84472121	371	6446											
FAM21A	0	.	GRCh38	chr10	50078676	50078676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgcttccatatttagcGtgtatatgatgaagaagtgg	11	15	11	4	1	0	3	0	2	0	1	1	3	1	3	1	1	2	3	1	1	6	7	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.293G>T	p.Arg98Leu	p.R98L	ENST00000282633	4/31	359	333	26	283	283	0	varscan-mutect	FAM21A,missense_variant,p.Arg98Leu,ENST00000351071,NM_001291398.1;FAM21A,missense_variant,p.Arg98Leu,ENST00000314664,;FAM21A,missense_variant,p.Arg98Leu,ENST00000611324,;FAM21A,missense_variant,p.Arg10Leu,ENST00000399339,;FAM21A,missense_variant,p.Arg98Leu,ENST00000282633,NM_001005751.2;FAM21A,splice_region_variant,,ENST00000492914,;FAM21A,upstream_gene_variant,,ENST00000476514,;FAM21A,missense_variant,p.Arg98Leu,ENST00000434114,;	T	ENST00000282633	Transcript	missense_variant,splice_region_variant	338/4272	293/4026	98/1341	R/L	cGt/cTt		1		1	FAM21A	HGNC	HGNC:23416	protein_coding	YES	CCDS41527.1	ENSP00000282633	Q641Q2		UPI000044FEAB	NM_001005751.2	deleterious(0)		4/31		hmmpanther:PTHR21669,hmmpanther:PTHR21669:SF4																	MODERATE	1	SNV	1			1										PASS		rs1487596302	.												T	3	4	14	50078676	50078676	G	T	1	0	0	0	0	1	0	0	0	5411	1159	40	1		1	FAM21A	10	50078676	Missense_Mutation	SNP	G	C3L-00279_TP	753375	50078676	83718746	372	6447											
A1CF	0	.	GRCh38	chr10	50816141	50816141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtaggttgtggtgggatCataaacttggcccaaagagt	12	10	14	5	0	1	1	1	0	0	1	1	2	1	2	1	5	1	2	1	5	5	4	rs574044306		C3L-00279_TP	C3L-00279_NB	C	C																c.1030G>T	p.Asp344Tyr	p.D344Y	ENST00000395489	11/15	369	327	42	412	411	1	strelka-varscan-mutect	A1CF,missense_variant,p.Asp344Tyr,ENST00000395489,NM_001198819.1;A1CF,missense_variant,p.Asp344Tyr,ENST00000395495,NM_001198820.1;A1CF,missense_variant,p.Asp336Tyr,ENST00000282641,NM_001198818.1;A1CF,missense_variant,p.Asp336Tyr,ENST00000374001,;A1CF,missense_variant,p.Asp344Tyr,ENST00000373995,NM_138933.2;A1CF,missense_variant,p.Asp336Tyr,ENST00000373997,NM_014576.3;A1CF,missense_variant,p.Asp336Tyr,ENST00000373993,NM_138932.2;A1CF,non_coding_transcript_exon_variant,,ENST00000493415,;ASAH2B,intron_variant,,ENST00000483649,;	A	ENST00000395489	Transcript	missense_variant	1430/9517	1030/1809	344/602	D/Y	Gat/Tat	rs574044306,COSM1702386,COSM1702387,COSM1702388	1		-1	A1CF	HGNC	HGNC:24086	protein_coding	YES	CCDS73133.1	ENSP00000378868		F8W9F8	UPI0001E92A39	NM_001198819.1	deleterious(0.05)		11/15		hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF313,TIGRFAM_domain:TIGR01648											0,1,1,1						MODERATE	1	SNV	2		0,1,1,1	1										PASS		rs574044306	.												A	3	1	14	50816141	50816141	C	A	1	0	0	0	0	1	0	0	0	2	826	29	2		2	A1CF	10	50816141	Missense_Mutation	SNP	C	C3L-00279_TP	737465	50816141	82981281	373	6448											
PCDH15	0	.	GRCh38	chr10	53822974	53822974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatttggaactttcctcatCagcctcctgggtaagctgac	8	13	8	12	0	2	1	2	1	0	0	4	2	4	2	3	2	3	2	3	2	3	4			C3L-00279_TP	C3L-00279_NB	C	C																c.4773G>A	p.=	p.L1591L	ENST00000373957	35/35	435	395	40	360	359	1	strelka-varscan-mutect	PCDH15,synonymous_variant,p.=,ENST00000617051,;PCDH15,synonymous_variant,p.=,ENST00000373957,NM_001142763.1;PCDH15,synonymous_variant,p.=,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,synonymous_variant,p.=,ENST00000395430,NM_001142766.1;PCDH15,synonymous_variant,p.=,ENST00000395433,NM_001142773.1;PCDH15,synonymous_variant,p.=,ENST00000395432,NM_001142767.1;PCDH15,synonymous_variant,p.=,ENST00000320301,NM_033056.3;PCDH15,synonymous_variant,p.=,ENST00000622048,;PCDH15,synonymous_variant,p.=,ENST00000437009,NM_001142765.1;PCDH15,intron_variant,,ENST00000614895,;PCDH15,intron_variant,,ENST00000373965,NM_001142772.1;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000617271,NM_001142770.1;PCDH15,intron_variant,,ENST00000613657,NM_001142769.1;PCDH15,intron_variant,,ENST00000395445,;PCDH15,intron_variant,,ENST00000616114,;PCDH15,intron_variant,,ENST00000395438,;PCDH15,intron_variant,,ENST00000612394,;PCDH15,intron_variant,,ENST00000621708,NM_001142771.1;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,intron_variant,,ENST00000618301,;PCDH15,non_coding_transcript_exon_variant,,ENST00000463095,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;PCDH15,upstream_gene_variant,,ENST00000476074,;	T	ENST00000373957	Transcript	synonymous_variant	5168/7032	4773/5889	1591/1962	L	ctG/ctA	COSM4846291,COSM4846292	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1			35/35													1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												T	2	4	14	53822974	53822974	C	T	1	0	0	0	0	0	0	0	1	11598	813	29	3		3	PCDH15	10	53822974	Silent	SNP	C	C3L-00279_TP	3006833	53822974	79974448	374	6449											
TMEM26	0	.	GRCh38	chr10	61452919	61452919	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgccgcgcttgaactTgagggtgagcgcagtctcca	6	9	13	13	3	2	3	0	3	2	0	3	3	2	3	3	1	3	2	3	1	1	2	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.163A>C	p.Lys55Gln	p.K55Q	ENST00000399298	1/6	173	160	13	154	154	0	strelka-varscan-mutect	TMEM26,missense_variant,p.Lys55Gln,ENST00000399298,NM_178505.6;TMEM26-AS1,non_coding_transcript_exon_variant,,ENST00000389640,;TMEM26,missense_variant,p.Lys55Gln,ENST00000503886,;TMEM26,missense_variant,p.Lys55Gln,ENST00000488505,;	G	ENST00000399298	Transcript	missense_variant	532/5151	163/1107	55/368	K/Q	Aag/Cag		1		-1	TMEM26	HGNC	HGNC:28550	protein_coding	YES	CCDS41530.1	ENSP00000382237	Q6ZUK4		UPI00001C0B3F	NM_178505.6	deleterious(0.01)		1/6		Pfam_domain:PF09772,hmmpanther:PTHR22168,hmmpanther:PTHR22168:SF3,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1028462711	.												G	3	3	14	61452919	61452919	T	G	1	0	0	0	0	1	0	0	0	16620	1821	63	5		5	TMEM26	10	61452919	Missense_Mutation	SNP	T	C3L-00279_TP	7629945	61452919	72344503	375	6450											
TBATA	0	.	GRCh38	chr10	70774319	70774319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggctggggaaggagctgagCcactgctgtctgcaggagtc	7	7	18	9	0	1	1	0	1	1	0	2	4	1	4	1	5	4	4	1	5	1	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.811G>T	p.Ala271Ser	p.A271S	ENST00000299290	9/11	275	252	23	249	249	0	strelka-mutect	TBATA,missense_variant,p.Ala272Ser,ENST00000456372,NM_001318241.1;TBATA,missense_variant,p.Ala271Ser,ENST00000299290,NM_001318243.1,NM_152710.2;TBATA,upstream_gene_variant,,ENST00000394982,;	A	ENST00000299290	Transcript	missense_variant	1201/1583	811/1056	271/351	A/S	Gct/Tct		1		-1	TBATA	HGNC	HGNC:23511	protein_coding	YES	CCDS7308.1	ENSP00000299290	Q96M53		UPI000013E57C	NM_001318243.1,NM_152710.2	tolerated(0.15)		9/11		hmmpanther:PTHR33772,hmmpanther:PTHR33772:SF3,Pfam_domain:PF15256																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	70774319	70774319	C	A	1	0	0	0	0	1	0	0	0	15996	739	26	2		2	TBATA	10	70774319	Missense_Mutation	SNP	C	C3L-00279_TP	9321400	70774319	63023103	376	6451											
CDH23	0	.	GRCh38	chr10	71677642	71677642	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccagaaggatgcctacgtGggtgctctgcgggagaacga	9	8	15	9	3	1	2	0	0	1	2	2	5	2	3	2	3	5	1	2	3	3	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1716G>T	p.=	p.V572V	ENST00000224721	16/70	277	260	17	298	298	0	strelka-varscan-mutect	CDH23,synonymous_variant,p.=,ENST00000224721,NM_022124.5;CDH23,synonymous_variant,p.=,ENST00000622827,;CDH23,synonymous_variant,p.=,ENST00000442677,;CDH23,synonymous_variant,p.=,ENST00000616684,NM_001171930.1;CDH23,synonymous_variant,p.=,ENST00000398809,;CDH23,synonymous_variant,p.=,ENST00000466757,;CDH23,synonymous_variant,p.=,ENST00000299366,NM_001171931.1;	T	ENST00000224721	Transcript	synonymous_variant	2106/11139	1716/10080	572/3359	V	gtG/gtT		1		1	CDH23	HGNC	HGNC:13733	protein_coding			ENSP00000224721		A0A0A0MQS6	UPI0002B831D5	NM_022124.5			16/70		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF277,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	14	71677642	71677642	G	T	1	0	0	0	0	0	0	0	1	2811	1335	47	2		2	CDH23	10	71677642	Silent	SNP	G	C3L-00279_TP	903323	71677642	62119780	377	6452											
CDH23	0	.	GRCh38	chr10	71799170	71799170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactggctcaactttaccGtgagggcctcagacaacggg	9	8	12	12	2	2	2	2	1	0	1	2	2	2	2	2	3	4	2	2	3	3	2	rs550770402		C3L-00279_TP	C3L-00279_NB	G	G																c.394G>T	p.Val132Leu	p.V132L	ENST00000398788	4/23	161	148	13	138	138	0	strelka-varscan-mutect	CDH23,missense_variant,p.Val2377Leu,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Val2372Leu,ENST00000622827,;CDH23,missense_variant,p.Val132Leu,ENST00000398788,NM_001171933.1;CDH23,missense_variant,p.Val132Leu,ENST00000619887,NM_001171934.1;CDH23,non_coding_transcript_exon_variant,,ENST00000475158,;	T	ENST00000398788	Transcript	missense_variant	711/4329	394/3345	132/1114	V/L	Gtg/Ttg	rs550770402,COSM5186097	1		1	CDH23	HGNC	HGNC:13733	protein_coding	YES	CCDS53540.1	ENSP00000381768	Q9H251		UPI0000496839	NM_001171933.1	tolerated(0.07)		4/23		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF277,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs550770402	.												T	3	4	14	71799170	71799170	G	T	1	0	0	0	0	1	0	0	0	2811	1145	40	1		1	CDH23	10	71799170	Missense_Mutation	SNP	G	C3L-00279_TP	121528	71799170	61998252	378	6453											
CFAP70	0	.	GRCh38	chr10	73312475	73312475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttctcaacaacctaccaCatccccaggcctaggccttc	10	8	4	19	0	1	0	1	0	1	0	4	0	2	0	7	2	3	0	7	2	4	4	rs147595147		C3L-00279_TP	C3L-00279_NB	C	C																c.1291G>T	p.Val431Leu	p.V431L	ENST00000310715	11/28	57	52	5	20	20	0	strelka-mutect	CFAP70,missense_variant,p.Val431Leu,ENST00000310715,NM_145170.3;CFAP70,splice_region_variant,,ENST00000355577,;CFAP70,intron_variant,,ENST00000340329,;CFAP70,splice_region_variant,,ENST00000493787,;	A	ENST00000310715	Transcript	missense_variant,splice_region_variant	1412/3703	1291/3366	431/1121	V/L	Gtg/Ttg	rs147595147	1		-1	CFAP70	HGNC	HGNC:30726	protein_coding	YES	CCDS7324.3	ENSP00000310829	Q5T0N1		UPI00001AEF7A	NM_145170.3	tolerated(0.7)		11/28		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF394																	MODERATE	1	SNV	5			1										PASS		rs147595147	.												A	3	1	14	73312475	73312475	C	A	1	0	0	0	0	1	0	0	0	3031	492	17	2		2	CFAP70	10	73312475	Missense_Mutation	SNP	C	C3L-00279_TP	1513305	73312475	60484947	379	6454											
KAT6B	0	.	GRCh38	chr10	74976000	74976000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcatatctataccactcagGgacagtctcgcaaaaaggga	14	8	8	11	1	4	0	2	0	2	0	5	2	4	2	1	2	1	1	1	2	5	3	rs146395020		C3L-00279_TP	C3L-00279_NB	G	G																c.1663G>A	p.Gly555Arg	p.G555R	ENST00000287239	8/18	692	631	61	619	618	1	strelka-varscan-mutect	KAT6B,missense_variant,p.Gly555Arg,ENST00000287239,NM_012330.3;KAT6B,intron_variant,,ENST00000372711,NM_001256468.1;KAT6B,intron_variant,,ENST00000372724,NM_001256469.1;KAT6B,intron_variant,,ENST00000372725,;KAT6B,intron_variant,,ENST00000372714,;KAT6B,upstream_gene_variant,,ENST00000490365,;	A	ENST00000287239	Transcript	missense_variant	2152/8287	1663/6222	555/2073	G/R	Gga/Aga	rs146395020,COSM3397253	1		1	KAT6B	HGNC	HGNC:17582	protein_coding	YES	CCDS7345.1	ENSP00000287239	Q8WYB5		UPI000013DEA0	NM_012330.3	deleterious(0)		8/18													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs146395020	.												A	3	1	14	74976000	74976000	G	A	1	0	0	0	0	1	0	0	0	7899	1233	43	3		3	KAT6B	10	74976000	Missense_Mutation	SNP	G	C3L-00279_TP	1663525	74976000	58821422	380	6455											
POLR3A	0	.	GRCh38	chr10	78004729	78004729	+	Frame_Shift_Del	DEL	T	T	-																															ggctcacctccagggtctccTcagcagtgcagccaggctgc																								novel		C3L-00279_TP	C3L-00279_NB	T	T																c.2234delA	p.Glu745GlyfsTer7	p.E745Gfs*7	ENST00000372371	16/31	392	362	30	394	393	1	sindel-varindel-pindel	POLR3A,frameshift_variant,p.Glu745GlyfsTer7,ENST00000372371,NM_007055.3;POLR3A,non_coding_transcript_exon_variant,,ENST00000472014,;POLR3A,3_prime_UTR_variant,,ENST00000473588,;	-	ENST00000372371	Transcript	frameshift_variant	2372/6640	2234/4173	745/1390	E/X	gAg/gg		1		-1	POLR3A	HGNC	HGNC:30074	protein_coding	YES	CCDS7354.1	ENSP00000361446	O14802		UPI000007456A	NM_007055.3			16/31		hmmpanther:PTHR19376:SF32,hmmpanther:PTHR19376,Pfam_domain:PF05000,Superfamily_domains:SSF64484																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	14	78004729	78004729	T	-	1	0	1	0	1	0	0	0	0	12339	1551	54	0		0	POLR3A	10	78004729	Frame_Shift_Del	DEL	T	C3L-00279_TP	3028729	78004729	55792693	381	6456											
DNMBP	0	.	GRCh38	chr10	99880208	99880208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatgctgctggggttgaagGtcagggtgctgccgctgttc	4	11	16	10	1	1	1	1	1	0	0	2	1	1	1	2	4	4	6	2	4	1	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.4151C>T	p.Thr1384Ile	p.T1384I	ENST00000324109	16/17	233	217	16	170	170	0	strelka-varscan-mutect	DNMBP,missense_variant,p.Thr1384Ile,ENST00000324109,NM_015221.2;DNMBP,missense_variant,p.Thr1016Ile,ENST00000636706,NM_001318326.1;DNMBP,missense_variant,p.Thr672Ile,ENST00000543621,NM_001318327.1;	A	ENST00000324109	Transcript	missense_variant	4243/6400	4151/4734	1384/1577	T/I	aCc/aTc		1		-1	DNMBP	HGNC	HGNC:30373	protein_coding	YES	CCDS7485.1	ENSP00000315659	Q6XZF7		UPI000013D6C9	NM_015221.2	deleterious(0.04)		16/17		hmmpanther:PTHR22834:SF19,hmmpanther:PTHR22834																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	99880208	99880208	G	A	1	0	0	0	0	1	0	0	0	4487	1261	44	3		3	DNMBP	10	99880208	Missense_Mutation	SNP	G	C3L-00279_TP	21875479	99880208	33917214	382	6457											
INPP5F	0	.	GRCh38	chr10	119808005	119808005	+	Frame_Shift_Del	DEL	G	G	-																															tcgcatctaccagataatgtGggccaataatggtgactcca																								novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1516delG	p.Ala506ProfsTer17	p.A506Pfs*17	ENST00000361976	13/20	154	142	12	136	136	0	sindel-varindel-pindel	INPP5F,frameshift_variant,p.Ala506ProfsTer17,ENST00000361976,NM_014937.3;PHACTR2P1,intron_variant,,ENST00000636592,;	-	ENST00000361976	Transcript	frameshift_variant	1680/5063	1514/3399	505/1132	W/X	tGg/tg		1		1	INPP5F	HGNC	HGNC:17054	protein_coding	YES	CCDS7616.1	ENSP00000354519	Q9Y2H2		UPI000006FBCA	NM_014937.3			13/20		PROSITE_profiles:PS50275,hmmpanther:PTHR11200:SF167,hmmpanther:PTHR11200																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	14	119808005	119808005	G	-	1	0	1	0	1	0	0	0	0	7661	1357	47	0		0	INPP5F	10	119808005	Frame_Shift_Del	DEL	G	C3L-00279_TP	19927797	119808005	13989417	383	6458											
BTBD16	0	.	GRCh38	chr10	122276934	122276934	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagctttgaggaacccAgacaggtatggagactcaaa	15	6	13	7	0	1	3	1	1	0	2	1	7	1	5	1	4	2	2	1	4	4	2	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.162A>T	p.=	p.P54P	ENST00000260723	3/16	140	126	14	131	130	1	strelka-varscan-mutect	BTBD16,synonymous_variant,p.=,ENST00000260723,NM_001318189.1,NM_144587.2;	T	ENST00000260723	Transcript	synonymous_variant	413/1849	162/1521	54/506	P	ccA/ccT		1		1	BTBD16	HGNC	HGNC:26340	protein_coding	YES	CCDS31301.1	ENSP00000260723	Q32M84		UPI00003CEFB9	NM_001318189.1,NM_144587.2			3/16		hmmpanther:PTHR23231,hmmpanther:PTHR23231:SF4																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	14	122276934	122276934	A	T	1	0	0	0	0	0	0	0	1	1715	202	7	4		4	BTBD16	10	122276934	Silent	SNP	A	C3L-00279_TP	2468929	122276934	11520488	384	6459											
HTRA1	0	.	GRCh38	chr10	122488970	122488970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtggtggagaagatcgccCctgccgtggttcatatcgaa	9	9	13	10	4	1	2	1	0	0	2	3	4	1	2	3	3	1	1	3	3	3	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.541C>G	p.Pro181Ala	p.P181A	ENST00000368984	2/9	520	473	47	493	493	0	strelka-varscan-mutect	HTRA1,missense_variant,p.Pro181Ala,ENST00000368984,NM_002775.4;	G	ENST00000368984	Transcript	missense_variant	669/2120	541/1443	181/480	P/A	Cct/Gct		1		1	HTRA1	HGNC	HGNC:9476	protein_coding	YES	CCDS7630.1	ENSP00000357980	Q92743		UPI0000114888	NM_002775.4	deleterious(0)		2/9		Gene3D:2.40.10.10,hmmpanther:PTHR22939,hmmpanther:PTHR22939:SF13,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	122488970	122488970	C	G	1	0	0	0	0	1	0	0	0	7349	623	22	4		4	HTRA1	10	122488970	Missense_Mutation	SNP	C	C3L-00279_TP	212036	122488970	11308452	385	6460											
HTRA1	0	.	GRCh38	chr10	122510104	122510104	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctcaccaggaaaagccAtcaccaagaagaagtatatt	16	9	7	9	0	2	2	2	0	1	2	3	3	2	3	3	1	1	1	3	1	7	4	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.1129A>G	p.Ile377Val	p.I377V	ENST00000368984	7/9	505	468	37	491	491	0	strelka-varscan-mutect	HTRA1,missense_variant,p.Ile377Val,ENST00000368984,NM_002775.4;HTRA1,missense_variant,p.Ile118Val,ENST00000420892,;	G	ENST00000368984	Transcript	missense_variant	1257/2120	1129/1443	377/480	I/V	Atc/Gtc		1		1	HTRA1	HGNC	HGNC:9476	protein_coding	YES	CCDS7630.1	ENSP00000357980	Q92743		UPI0000114888	NM_002775.4	tolerated(0.67)		7/9		PROSITE_profiles:PS50106,hmmpanther:PTHR22939,hmmpanther:PTHR22939:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	122510104	122510104	A	G	1	0	0	0	0	1	0	0	0	7349	217	8	5		5	HTRA1	10	122510104	Missense_Mutation	SNP	A	C3L-00279_TP	21134	122510104	11287318	386	6461											
STK32C	0	.	GRCh38	chr10	132331645	132331645	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaggaccgctccaaaggTggtgcctcagcagcaattct	10	7	12	12	2	2	0	1	0	1	0	3	2	3	1	3	3	4	3	3	3	2	1	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.92A>T	p.His31Leu	p.H31L	ENST00000368620	1/4	136	126	10	133	133	0	strelka-varscan-mutect	STK32C,missense_variant,p.His31Leu,ENST00000368620,;STK32C,missense_variant,p.His31Leu,ENST00000368619,;STK32C,missense_variant,p.His31Leu,ENST00000456004,NM_001318880.1;LRRC27,upstream_gene_variant,,ENST00000368614,NM_030626.2;LRRC27,upstream_gene_variant,,ENST00000368613,NM_001143757.1;LRRC27,upstream_gene_variant,,ENST00000344079,NM_001143759.1;LRRC27,upstream_gene_variant,,ENST00000368612,;LRRC27,upstream_gene_variant,,ENST00000625755,NM_001143758.1;LRRC27,upstream_gene_variant,,ENST00000462656,;	A	ENST00000368620	Transcript	missense_variant	203/830	92/719	31/239	H/L	cAc/cTc		1		-1	STK32C	HGNC	HGNC:21332	protein_coding			ENSP00000357609		A0A0A0MRK9	UPI0006644D0A				1/4																			MODERATE		SNV	3			1										PASS		.	.												A	3	1	14	132331645	132331645	T	A	1	0	0	0	0	1	0	0	0	15676	1696	59	4		4	STK32C	10	132331645	Missense_Mutation	SNP	T	C3L-00279_TP	9821541	132331645	1465777	387	6462											
NLRP6	0	.	GRCh38	chr11	281143	281143	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaactggagcaactggagcTtcgtggctccaaagtgcaga	11	7	14	9	1	0	1	0	0	0	1	2	4	1	4	1	4	5	4	1	4	3	1	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.1409T>C	p.Leu470Pro	p.L470P	ENST00000312165	4/8	200	174	26	182	182	0	strelka-varscan-mutect	NLRP6,missense_variant,p.Leu470Pro,ENST00000534750,NM_001276700.1;NLRP6,missense_variant,p.Leu470Pro,ENST00000312165,NM_138329.2;NLRP6,downstream_gene_variant,,ENST00000527946,;	C	ENST00000312165	Transcript	missense_variant	1409/2679	1409/2679	470/892	L/P	cTt/cCt		1		1	NLRP6	HGNC	HGNC:22944	protein_coding	YES	CCDS7693.1	ENSP00000309767	P59044		UPI00001AEFE1	NM_138329.2	deleterious(0)		4/8		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF3																	MODERATE	1	SNV	1			1										PASS		rs1409041110	.												C	3	2	14	281143	281143	T	C	1	0	0	0	0	1	0	0	0	10519	1609	56	5		5	NLRP6	11	281143	Missense_Mutation	SNP	T	C3L-00279_TP		281143	134805479	388	6463											
LMNTD2	0	.	GRCh38	chr11	557988	557988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgcagctcggcctccatctCctggagcgtgcgggtggtct	3	10	14	14	3	2	0	0	0	2	0	5	1	3	1	3	4	4	2	3	4	0	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.451G>C	p.Glu151Gln	p.E151Q	ENST00000329451	5/14	66	54	12	65	65	0	strelka-varscan-mutect	LMNTD2,missense_variant,p.Glu151Gln,ENST00000329451,NM_173573.2;LMNTD2,missense_variant,p.Glu158Gln,ENST00000441853,;LMNTD2,missense_variant,p.Glu161Gln,ENST00000486629,;LRRC56,downstream_gene_variant,,ENST00000270115,NM_198075.3;RASSF7,upstream_gene_variant,,ENST00000397583,NM_003475.3;RASSF7,upstream_gene_variant,,ENST00000431809,;RASSF7,upstream_gene_variant,,ENST00000397582,NM_001143993.1;RASSF7,upstream_gene_variant,,ENST00000454668,NM_001143994.1;RASSF7,upstream_gene_variant,,ENST00000528736,;RP11-496I9.1,non_coding_transcript_exon_variant,,ENST00000527620,;RP11-496I9.1,upstream_gene_variant,,ENST00000533844,;RP11-496I9.1,upstream_gene_variant,,ENST00000527113,;RASSF7,upstream_gene_variant,,ENST00000524468,;RASSF7,upstream_gene_variant,,ENST00000414138,;LMNTD2,upstream_gene_variant,,ENST00000469990,;RASSF7,upstream_gene_variant,,ENST00000531112,;LMNTD2,downstream_gene_variant,,ENST00000492515,;	G	ENST00000329451	Transcript	missense_variant	514/2084	451/1905	151/634	E/Q	Gag/Cag		1		-1	LMNTD2	HGNC	HGNC:28561	protein_coding	YES	CCDS7701.1	ENSP00000331167	Q8IXW0		UPI0000456441	NM_173573.2	tolerated(1)		5/14		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19956,hmmpanther:PTHR19956:SF5,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1212389087	.												G	3	3	14	557988	557988	C	G	1	0	0	0	0	1	0	0	0	8776	864	30	4		4	LMNTD2	11	557988	Missense_Mutation	SNP	C	C3L-00279_TP	276845	557988	134528634	389	6464											
SLC22A18AS	0	.	GRCh38	chr11	2899669	2899669	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcctaaagggcaattttcCcacattccctcagaaccagg	12	8	7	14	0	1	1	1	0	0	1	3	1	3	1	4	2	2	1	4	2	4	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.33G>A	p.Trp11Ter	p.W11*	ENST00000625099	3/4	63	53	10	57	57	0	strelka-varscan-mutect	SLC22A18AS,stop_gained,p.Trp11Ter,ENST00000625099,NM_007105.3;SLC22A18AS,intron_variant,,ENST00000455942,NM_001302862.1;SLC22A18,upstream_gene_variant,,ENST00000380574,NM_001315501.1;SLC22A18,upstream_gene_variant,,ENST00000312221,NM_002555.5;SLC22A18,upstream_gene_variant,,ENST00000347936,NM_183233.2;SLC22A18,upstream_gene_variant,,ENST00000449793,NM_001315502.1;SLC22A18,upstream_gene_variant,,ENST00000485423,;SLC22A18,upstream_gene_variant,,ENST00000492567,;	T	ENST00000625099	Transcript	stop_gained	530/1659	33/762	11/253	W/*	tgG/tgA		1		-1	SLC22A18AS	HGNC	HGNC:10965	protein_coding	YES		ENSP00000487968	Q8N1D0		UPI000013FBB8	NM_007105.3			3/4																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	14	2899669	2899669	C	T	1	0	0	0	0	0	1	0	0	14715	624	22	3		3	SLC22A18AS	11	2899669	Nonsense_Mutation	SNP	C	C3L-00279_TP	2341681	2899669	132186953	390	6465											
SLC22A18	0	.	GRCh38	chr11	2909672	2909672	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcggcgtcggagtcatcctCggctccctgctgggcgggac	3	9	15	14	5	1	0	1	0	0	0	6	2	3	2	2	5	1	2	2	5	0	1	rs760431741		C3L-00279_TP	C3L-00279_NB	C	C																c.498C>T	p.=	p.L166L	ENST00000380574	5/11	163	143	20	139	139	0	strelka-varscan-mutect	SLC22A18,synonymous_variant,p.=,ENST00000380574,NM_001315501.1;SLC22A18,synonymous_variant,p.=,ENST00000312221,NM_002555.5;SLC22A18,synonymous_variant,p.=,ENST00000347936,NM_183233.2;SLC22A18,intron_variant,,ENST00000449793,NM_001315502.1;SLC22A18,downstream_gene_variant,,ENST00000485423,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000492567,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000498244,;	T	ENST00000380574	Transcript	synonymous_variant	929/1755	498/1275	166/424	L	ctC/ctT	rs760431741	1		1	SLC22A18	HGNC	HGNC:10964	protein_coding	YES	CCDS7740.1	ENSP00000369948	Q96BI1		UPI0000070F3F	NM_001315501.1			5/11		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24002,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473,Prints_domain:PR01035																	LOW	1	SNV	5			1										PASS		rs760431741	.												T	2	4	14	2909672	2909672	C	T	1	0	0	0	0	0	0	0	1	14714	871	31	1		1	SLC22A18	11	2909672	Silent	SNP	C	C3L-00279_TP	10003	2909672	132176950	391	6466											
OR51L1	0	.	GRCh38	chr11	4999369	4999369	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaccgttttgttgctatctgCcatccactgcactaccccac	7	12	6	16	1	1	0	0	0	1	0	2	1	2	0	5	0	4	4	5	0	2	5	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.387C>A	p.Cys129Ter	p.C129*	ENST00000321543	1/1	293	253	40	262	262	0	strelka-varscan-mutect	OR51L1,stop_gained,p.Cys129Ter,ENST00000321543,NM_001004755.1;	A	ENST00000321543	Transcript	stop_gained	387/948	387/948	129/315	C/*	tgC/tgA		1		1	OR51L1	HGNC	HGNC:14759	protein_coding	YES	CCDS31369.1	ENSP00000322156	Q8NGJ5	A0A126GVJ8	UPI0000041B76	NM_001004755.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF37,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	HIGH	1	SNV				1										PASS		.	.												A	4	1	14	4999369	4999369	C	A	1	0	0	0	0	0	1	0	0	11176	747	26	2		2	OR51L1	11	4999369	Nonsense_Mutation	SNP	C	C3L-00279_TP	2089697	4999369	130087253	392	6467											
OR51B5	0	.	GRCh38	chr11	5342851	5342851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcctctctggaggcaatgCtcaggacagtcttgagtatc	8	12	10	11	0	4	1	1	1	3	0	7	3	4	3	1	3	1	3	1	3	2	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.674G>A	p.Ser225Asn	p.S225N	ENST00000300773	1/1	154	139	15	134	134	0	strelka-varscan-mutect	OR51B5,missense_variant,p.Ser225Asn,ENST00000300773,NM_001005567.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;AC104389.28,downstream_gene_variant,,ENST00000418729,;	T	ENST00000300773	Transcript	missense_variant	674/939	674/939	225/312	S/N	aGc/aAc		1		-1	OR51B5	HGNC	HGNC:19599	protein_coding	YES	CCDS31378.1	ENSP00000300773	Q9H339		UPI000013E697	NM_001005567.2	tolerated(0.14)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF76,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												T	3	4	14	5342851	5342851	C	T	1	0	0	0	0	1	0	0	0	11165	797	28	3		3	OR51B5	11	5342851	Missense_Mutation	SNP	C	C3L-00279_TP	343482	5342851	129743771	393	6468											
OR52D1	0	.	GRCh38	chr11	5488718	5488718	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaagaatgtcagattcCaacctcagtgataaccatct	14	9	7	11	0	3	3	2	1	1	2	4	4	4	4	4	1	2	0	4	1	4	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.12C>A	p.=	p.S4S	ENST00000322641	1/1	97	86	11	89	88	1	strelka-varscan-mutect	OR52D1,synonymous_variant,p.=,ENST00000322641,NM_001005163.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	A	ENST00000322641	Transcript	synonymous_variant	34/1065	12/957	4/318	S	tcC/tcA		1		1	OR52D1	HGNC	HGNC:15212	protein_coding	YES	CCDS31384.1	ENSP00000326232	Q9H346	A0A126GVG9	UPI0000041DD3	NM_001005163.2			1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF75,Superfamily_domains:SSF81321																	LOW		SNV				1										PASS		rs1309925653	.												A	2	1	14	5488718	5488718	C	A	1	0	0	0	0	0	0	0	1	11186	581	21	2		2	OR52D1	11	5488718	Silent	SNP	C	C3L-00279_TP	145867	5488718	129597904	394	6469											
OR56A3	0	.	GRCh38	chr11	5947916	5947916	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatatgtctgtttccagActctcctgcgatgatgtcac	8	13	8	12	1	3	2	1	1	2	1	5	3	4	2	3	0	1	1	3	0	2	2	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.570A>T	p.Arg190Ser	p.R190S	ENST00000329564	1/1	251	221	30	166	166	0	strelka-varscan-mutect	OR56A3,missense_variant,p.Arg190Ser,ENST00000329564,NM_001003443.2;AC025016.1,downstream_gene_variant,,ENST00000528915,;	T	ENST00000329564	Transcript	missense_variant	577/1022	570/948	190/315	R/S	agA/agT		1		1	OR56A3	HGNC	HGNC:14786	protein_coding	YES	CCDS41614.1	ENSP00000331572	Q8NH54	A0A126GWL6	UPI0000041BF7	NM_001003443.2	tolerated(0.82)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF40,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE		SNV				1										PASS		.	.												T	3	4	14	5947916	5947916	A	T	1	0	0	0	0	1	0	0	0	11206	272	10	4		4	OR56A3	11	5947916	Missense_Mutation	SNP	A	C3L-00279_TP	459198	5947916	129138706	395	6470											
OR56A4	0	.	GRCh38	chr11	6002127	6002127	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataaacaatggggttcagaGctgggggaatgaggtggtgc	11	8	17	5	0	1	2	1	1	0	1	1	3	1	3	0	6	3	2	0	6	4	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1022C>G	p.Ala341Gly	p.A341G	ENST00000330728	1/1	117	96	21	97	97	0	strelka-varscan-mutect	OR56A4,missense_variant,p.Ala341Gly,ENST00000330728,NM_001005179.2;	C	ENST00000330728	Transcript	missense_variant	1068/1209	1022/1098	341/365	A/G	gCt/gGt		1		-1	OR56A4	HGNC	HGNC:14791	protein_coding	YES	CCDS31404.1	ENSP00000328215	Q8NGH8		UPI000041A756	NM_001005179.2	deleterious(0.01)		1/1		Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF81,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	14	6002127	6002127	G	C	1	0	0	0	0	1	0	0	0	11207	971	34	4		4	OR56A4	11	6002127	Missense_Mutation	SNP	G	C3L-00279_TP	54211	6002127	129084495	396	6471											
CCKBR	0	.	GRCh38	chr11	6260069	6260069	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcgcattcgcggagcCgggacacgaggtgggtgcct	5	6	15	15	5	0	0	0	0	0	0	2	3	0	2	4	4	2	1	4	4	0	1	rs765920167		C3L-00279_TP	C3L-00279_NB	C	C																c.141C>A	p.=	p.A47A	ENST00000334619	1/5	224	193	31	257	257	0	strelka-varscan-mutect	CCKBR,synonymous_variant,p.=,ENST00000525462,;CCKBR,synonymous_variant,p.=,ENST00000334619,NM_176875.3;CCKBR,synonymous_variant,p.=,ENST00000532715,;CCKBR,synonymous_variant,p.=,ENST00000525014,;CCKBR,synonymous_variant,p.=,ENST00000531712,;	A	ENST00000334619	Transcript	synonymous_variant	334/2121	141/1344	47/447	A	gcC/gcA	rs765920167,COSM1355482,COSM1355483	1		1	CCKBR	HGNC	HGNC:1571	protein_coding	YES	CCDS7761.1	ENSP00000335544	P32239		UPI0000000C18	NM_176875.3			1/5		hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF45,Superfamily_domains:SSF81321,Prints_domain:PR00527											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs765920167	.												A	2	1	14	6260069	6260069	C	A	1	0	0	0	0	0	0	0	1	2579	639	23	1		1	CCKBR	11	6260069	Silent	SNP	C	C3L-00279_TP	257942	6260069	128826553	397	6472											
DCHS1	0	.	GRCh38	chr11	6624044	6624044	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcccgggggcctggtccAgcactctccccagcctcagc	5	6	12	18	1	2	0	1	0	1	0	4	0	3	0	6	3	4	1	6	3	0	0	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.7632T>A	p.=	p.A2544A	ENST00000299441	21/21	232	201	31	168	168	0	strelka-varscan-mutect	DCHS1,synonymous_variant,p.=,ENST00000299441,NM_003737.3;TPP1,upstream_gene_variant,,ENST00000299427,NM_000391.3;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000436873,;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000428886,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000528917,;	T	ENST00000299441	Transcript	synonymous_variant	8044/10765	7632/9897	2544/3298	A	gcT/gcA		1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3			21/21		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF335,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	6624044	6624044	A	T	1	0	0	0	0	0	0	0	1	4090	175	7	4		4	DCHS1	11	6624044	Silent	SNP	A	C3L-00279_TP	363975	6624044	128462578	398	6473											
DCHS1	0	.	GRCh38	chr11	6629548	6629548	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagctttcgctagagaCgcctccataagtcacttgcc	12	9	8	12	2	1	2	1	0	0	2	3	3	2	2	3	0	2	2	3	0	4	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.5065G>T	p.Val1689Phe	p.V1689F	ENST00000299441	12/21	279	235	44	235	235	0	strelka-varscan-mutect	DCHS1,missense_variant,p.Val1689Phe,ENST00000299441,NM_003737.3;RP11-732A19.6,upstream_gene_variant,,ENST00000526633,;	A	ENST00000299441	Transcript	missense_variant	5477/10765	5065/9897	1689/3298	V/F	Gtc/Ttc		1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3	deleterious(0.01)		12/21		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF335,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs1289410605	.												A	3	1	14	6629548	6629548	C	A	1	0	0	0	0	1	0	0	0	4090	536	19	1		1	DCHS1	11	6629548	Missense_Mutation	SNP	C	C3L-00279_TP	5504	6629548	128457074	399	6474											
DCHS1	0	.	GRCh38	chr11	6640795	6640795	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgaacacctgcaagacAggactgccaggggccaggct	11	4	14	12	1	0	1	0	0	0	1	0	4	0	2	3	4	4	2	3	4	2	0	rs750151822		C3L-00279_TP	C3L-00279_NB	A	A																c.819T>A	p.=	p.P273P	ENST00000299441	2/21	358	306	52	279	279	0	strelka-varscan-mutect	DCHS1,synonymous_variant,p.=,ENST00000299441,NM_003737.3;	T	ENST00000299441	Transcript	synonymous_variant	1231/10765	819/9897	273/3298	P	ccT/ccA	rs750151822	1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3			2/21		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF335,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs750151822	.												T	2	4	14	6640795	6640795	A	T	1	0	0	0	0	0	0	0	1	4090	175	7	4		4	DCHS1	11	6640795	Silent	SNP	A	C3L-00279_TP	11247	6640795	128445827	400	6475											
IPO7	0	.	GRCh38	chr11	9423776	9423776	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaacttttaaattgcaGggcattatccaagatgttat	12	17	6	6	0	1	1	0	0	1	1	2	1	2	1	1	1	2	3	1	1	6	7	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1042-1G>A		p.X348_splice	ENST00000379719		82	75	7	25	25	0	strelka-mutect	IPO7,splice_acceptor_variant,,ENST00000379719,NM_006391.2;SNORA23,upstream_gene_variant,,ENST00000365128,;IPO7,upstream_gene_variant,,ENST00000530037,;IPO7,downstream_gene_variant,,ENST00000531235,;	A	ENST00000379719	Transcript	splice_acceptor_variant	-/6191	1042/3117	348/1038				1		1	IPO7	HGNC	HGNC:9852	protein_coding	YES	CCDS31425.1	ENSP00000369042	O95373		UPI0000072C06	NM_006391.2				9/24																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	14	9423776	9423776	G	A	1	0	0	0	0	0	0	1	0	7700	1014	35	3		3	IPO7	11	9423776	Splice_Site	SNP	G	C3L-00279_TP	2782981	9423776	125662846	401	6476											
SBF2	0	.	GRCh38	chr11	10028470	10028470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccaattgctggaacaggaGagccacactagtgcccgtga	12	6	11	12	1	0	2	0	1	0	1	0	4	0	3	3	2	4	1	3	2	3	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.601C>T	p.Leu201Phe	p.L201F	ENST00000256190	6/40	482	416	66	280	280	0	strelka-varscan-mutect	SBF2,missense_variant,p.Leu201Phe,ENST00000256190,NM_030962.3;SBF2,non_coding_transcript_exon_variant,,ENST00000527019,;SBF2,non_coding_transcript_exon_variant,,ENST00000533770,;SBF2,non_coding_transcript_exon_variant,,ENST00000533661,;	A	ENST00000256190	Transcript	missense_variant	739/7439	601/5550	201/1849	L/F	Ctc/Ttc		1		-1	SBF2	HGNC	HGNC:2135	protein_coding	YES	CCDS31427.1	ENSP00000256190	Q86WG5		UPI00000622D5	NM_030962.3	tolerated(0.12)		6/40		Pfam_domain:PF02141,PROSITE_profiles:PS50211,SMART_domains:SM00799																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	10028470	10028470	G	A	1	0	0	0	0	1	0	0	0	14123	942	33	3		3	SBF2	11	10028470	Missense_Mutation	SNP	G	C3L-00279_TP	604694	10028470	125058152	402	6477											
PIK3C2A	0	.	GRCh38	chr11	17097056	17097056	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatattgaaatcaaacttaCataatgtttatctgggttgt	14	16	7	4	0	2	1	1	1	1	0	2	2	2	1	0	1	2	2	0	1	7	7	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.4326+1G>C		p.X1442_splice	ENST00000265970		120	104	16	38	38	0	strelka-varscan-mutect	PIK3C2A,splice_donor_variant,,ENST00000265970,NM_001321378.1,NM_002645.2;PIK3C2A,splice_donor_variant,,ENST00000531428,;	G	ENST00000265970	Transcript	splice_donor_variant	-/8227	4326/5061	1442/1686				1		-1	PIK3C2A	HGNC	HGNC:8971	protein_coding	YES	CCDS7824.1	ENSP00000265970	O00443	L7RRS0	UPI000013D6B3	NM_001321378.1,NM_002645.2				26/31																		HIGH	1	SNV	1			1										PASS		rs772083223	.												G	5	3	14	17097056	17097056	C	G	1	0	0	0	0	0	0	1	0	12004	492	17	4		4	PIK3C2A	11	17097056	Splice_Site	SNP	C	C3L-00279_TP	7068586	17097056	117989566	403	6478											
PIK3C2A	0	.	GRCh38	chr11	17105300	17105300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagcaggaaccagctccaCcatgcctttaatgataaaat	15	8	8	10	0	0	1	0	1	0	0	1	3	1	3	4	2	4	2	4	2	5	3	rs201770470		C3L-00279_TP	C3L-00279_NB	C	C																c.3550G>T	p.Val1184Leu	p.V1184L	ENST00000265970	22/32	244	214	30	169	168	1	strelka-mutect	PIK3C2A,missense_variant,p.Val1184Leu,ENST00000265970,NM_001321378.1,NM_002645.2;PIK3C2A,non_coding_transcript_exon_variant,,ENST00000531428,;	A	ENST00000265970	Transcript	missense_variant	3550/8227	3550/5061	1184/1686	V/L	Gtg/Ttg	rs201770470	1		-1	PIK3C2A	HGNC	HGNC:8971	protein_coding	YES	CCDS7824.1	ENSP00000265970	O00443	L7RRS0	UPI000013D6B3	NM_001321378.1,NM_002645.2	deleterious(0)		22/32		Gene3D:1.10.1070.11,Pfam_domain:PF00454,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF28,SMART_domains:SM00146,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs201770470	.												A	3	1	14	17105300	17105300	C	A	1	0	0	0	0	1	0	0	0	12004	521	18	2		2	PIK3C2A	11	17105300	Missense_Mutation	SNP	C	C3L-00279_TP	8244	17105300	117981322	404	6479											
OTOG	0	.	GRCh38	chr11	17610499	17610499	+	Silent	SNP	C	C	A																															gaagccgggcacagccagccCatgggctcgcctgcctcccc																								rs768593641		C3L-00279_TP	C3L-00279_NB	C	C																c.5235C>A	p.=	p.P1745P	ENST00000399391	35/55	223	203	20	183	183	0	strelka-varscan-mutect	OTOG,synonymous_variant,p.=,ENST00000399397,NM_001292063.1;OTOG,synonymous_variant,p.=,ENST00000399391,NM_001277269.1;OTOG,synonymous_variant,p.=,ENST00000342528,;	A	ENST00000399391	Transcript	synonymous_variant	5235/8778	5235/8778	1745/2925	P	ccC/ccA	rs768593641	1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1			35/55																			LOW	1	SNV	5			1										PASS		rs768593641	.												A	2	1	14	17610499	17610499	C	A	1	0	0	0	0	0	0	0	1	11370	581	21	2		2	OTOG	11	17610499	Silent	SNP	C	C3L-00279_TP	505199	17610499	117476123	405	6480	151	2									
OTOG	0	.	GRCh38	chr11	17610500	17610500	+	Missense_Mutation	SNP	A	A	T																															aagccgggcacagccagcccAtgggctcgcctgcctcccca																								novel		C3L-00279_TP	C3L-00279_NB	A	A																c.5236A>T	p.Met1746Leu	p.M1746L	ENST00000399391	35/55	218	198	20	185	185	0	strelka-varscan-mutect	OTOG,missense_variant,p.Met1734Leu,ENST00000399397,NM_001292063.1;OTOG,missense_variant,p.Met1746Leu,ENST00000399391,NM_001277269.1;OTOG,missense_variant,p.Met752Leu,ENST00000342528,;	T	ENST00000399391	Transcript	missense_variant	5236/8778	5236/8778	1746/2925	M/L	Atg/Ttg		1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1	tolerated(0.75)		35/55																			MODERATE	1	SNV	5			1										PASS		rs1014488131	.												T	3	4	14	17610500	17610500	A	T	1	0	0	0	0	1	0	0	0	11370	217	8	4		4	OTOG	11	17610500	Missense_Mutation	SNP	A	C3L-00279_TP	1	17610500	117476122	406	6481	151	2									
SERGEF	0	.	GRCh38	chr11	17788258	17788258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgcagggtgagctggcaGctggcagagggccaaggagt	10	5	18	8	0	0	2	0	1	0	1	0	3	0	3	1	5	3	5	1	5	2	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1204C>A	p.Leu402Met	p.L402M	ENST00000265965	11/11	190	172	18	120	120	0	strelka-varscan-mutect	SERGEF,missense_variant,p.Leu402Met,ENST00000265965,NM_012139.3;SERGEF,missense_variant,p.Leu266Met,ENST00000529151,;SERGEF,3_prime_UTR_variant,,ENST00000528200,;SERGEF,3_prime_UTR_variant,,ENST00000525920,;SERGEF,non_coding_transcript_exon_variant,,ENST00000528369,;SERGEF,non_coding_transcript_exon_variant,,ENST00000524589,;SERGEF,non_coding_transcript_exon_variant,,ENST00000531299,;SERGEF,non_coding_transcript_exon_variant,,ENST00000529440,;SERGEF,non_coding_transcript_exon_variant,,ENST00000531926,;SERGEF,3_prime_UTR_variant,,ENST00000525422,;SERGEF,3_prime_UTR_variant,,ENST00000527494,;SERGEF,3_prime_UTR_variant,,ENST00000532546,;	T	ENST00000265965	Transcript	missense_variant	1356/1566	1204/1377	402/458	L/M	Ctg/Atg		1		-1	SERGEF	HGNC	HGNC:17499	protein_coding	YES	CCDS7828.1	ENSP00000265965	Q9UGK8		UPI000007326C	NM_012139.3	tolerated(0.06)		11/11		PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF208																	MODERATE	1	SNV	1			1										PASS		rs1224191328	.												T	3	4	14	17788258	17788258	G	T	1	0	0	0	0	1	0	0	0	14353	962	34	2		2	SERGEF	11	17788258	Missense_Mutation	SNP	G	C3L-00279_TP	177758	17788258	117298364	407	6482											
PTPN5	0	.	GRCh38	chr11	18740655	18740655	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccttttcatgaagctctTctgcttggaggacacgggag	7	11	14	9	1	3	1	1	1	2	0	3	4	3	4	1	4	2	2	1	4	1	4	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.863A>T	p.Glu288Val	p.E288V	ENST00000358540	8/15	56	50	6	51	51	0	strelka-varscan-mutect	PTPN5,missense_variant,p.Glu256Val,ENST00000396170,NM_001039970.1,NM_001278236.1;PTPN5,missense_variant,p.Glu288Val,ENST00000358540,NM_032781.3,NM_006906.1;PTPN5,missense_variant,p.Glu92Val,ENST00000477854,;PTPN5,missense_variant,p.Glu264Val,ENST00000396168,NM_001278238.1,NM_001278239.1;RP11-1081L13.4,downstream_gene_variant,,ENST00000527285,;PTPN5,downstream_gene_variant,,ENST00000496201,;	A	ENST00000358540	Transcript	missense_variant	1294/3135	863/1698	288/565	E/V	gAa/gTa		1		-1	PTPN5	HGNC	HGNC:9657	protein_coding	YES	CCDS7845.1	ENSP00000351342	P54829		UPI00001AE663	NM_032781.3,NM_006906.1	tolerated(0.07)		8/15		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF40,PIRSF_domain:PIRSF001997,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	18740655	18740655	T	A	1	0	0	0	0	1	0	0	0	12945	1783	62	4		4	PTPN5	11	18740655	Missense_Mutation	SNP	T	C3L-00279_TP	952397	18740655	116345967	408	6483											
QSER1	0	.	GRCh38	chr11	32933329	32933329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatcttcaaagcaagaaGatggttttccaatgcaagag	15	10	8	8	0	2	3	1	0	1	3	4	3	4	3	2	1	2	3	2	1	5	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1684G>T	p.Asp562Tyr	p.D562Y	ENST00000399302	4/13	96	84	12	54	54	0	strelka-varscan-mutect	QSER1,missense_variant,p.Asp562Tyr,ENST00000399302,NM_001076786.2;QSER1,missense_variant,p.Asp323Tyr,ENST00000527788,;QSER1,upstream_gene_variant,,ENST00000524678,;QSER1,downstream_gene_variant,,ENST00000528155,;QSER1,downstream_gene_variant,,ENST00000527250,;	T	ENST00000399302	Transcript	missense_variant	2019/9335	1684/5208	562/1735	D/Y	Gat/Tat		1		1	QSER1	HGNC	HGNC:26154	protein_coding	YES	CCDS41631.1	ENSP00000382241	Q2KHR3		UPI0000E467AF	NM_001076786.2	deleterious(0)		4/13		hmmpanther:PTHR14709:SF2,hmmpanther:PTHR14709																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	32933329	32933329	G	T	1	0	0	0	0	1	0	0	0	13037	942	33	2		2	QSER1	11	32933329	Missense_Mutation	SNP	G	C3L-00279_TP	14192674	32933329	102153293	409	6484											
NAT10	0	.	GRCh38	chr11	34134533	34134533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaagatccagactttggtGgtctgtctggtggaagggtc	7	12	14	8	0	2	2	0	0	2	2	5	3	4	3	2	5	0	0	2	5	2	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1858G>T	p.Gly620Cys	p.G620C	ENST00000257829	18/29	346	323	23	288	287	1	strelka-varscan-mutect	NAT10,missense_variant,p.Gly620Cys,ENST00000257829,NM_024662.2;NAT10,missense_variant,p.Gly548Cys,ENST00000531159,NM_001144030.1;NAT10,missense_variant,p.Gly467Cys,ENST00000615292,;NAT10,intron_variant,,ENST00000527971,;NAT10,upstream_gene_variant,,ENST00000530017,;	T	ENST00000257829	Transcript	missense_variant	2064/4002	1858/3078	620/1025	G/C	Ggt/Tgt		1		1	NAT10	HGNC	HGNC:29830	protein_coding	YES	CCDS7889.1	ENSP00000257829	Q9H0A0		UPI000013CF8E	NM_024662.2	deleterious(0.01)		18/29		PROSITE_profiles:PS51186,hmmpanther:PTHR10925,Pfam_domain:PF13718,Gene3D:3.40.630.30,Superfamily_domains:SSF55729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	34134533	34134533	G	T	1	0	0	0	0	1	0	0	0	10183	1348	47	2		2	NAT10	11	34134533	Missense_Mutation	SNP	G	C3L-00279_TP	1201204	34134533	100952089	410	6485											
PDHX	0	.	GRCh38	chr11	34994981	34994981	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaccctcctcaggcctgcAttttggcggttgggaggttc	5	13	12	11	1	1	0	1	0	0	0	3	1	2	1	3	5	2	3	3	5	1	5	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.1315A>T	p.Ile439Phe	p.I439F	ENST00000227868	11/11	443	387	56	360	360	0	strelka-varscan-mutect	PDHX,missense_variant,p.Ile424Phe,ENST00000448838,NM_001135024.1;PDHX,missense_variant,p.Ile439Phe,ENST00000227868,NM_003477.2;PDHX,missense_variant,p.Ile212Phe,ENST00000430469,NM_001166158.1;PDHX,missense_variant,p.Ile127Phe,ENST00000526309,;PDHX,intron_variant,,ENST00000477173,;	T	ENST00000227868	Transcript	missense_variant	1399/2389	1315/1506	439/501	I/F	Att/Ttt		1		1	PDHX	HGNC	HGNC:21350	protein_coding	YES	CCDS7896.1	ENSP00000227868	O00330		UPI0000130C34	NM_003477.2	deleterious(0)		11/11		hmmpanther:PTHR23151:SF57,hmmpanther:PTHR23151,Gene3D:3.30.559.10,Pfam_domain:PF00198,Superfamily_domains:SSF52777																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	34994981	34994981	A	T	1	0	0	0	0	1	0	0	0	11755	217	8	4		4	PDHX	11	34994981	Missense_Mutation	SNP	A	C3L-00279_TP	860448	34994981	100091641	411	6486											
RAG2	0	.	GRCh38	chr11	36592712	36592712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggggagtgtgtagagctCttgctatctccacatgctca	7	14	11	9	0	3	1	1	0	2	1	4	2	3	2	1	2	3	4	1	2	2	4			C3L-00279_TP	C3L-00279_NB	C	C																c.1457G>A	p.Arg486Lys	p.R486K	ENST00000618712	3/3	578	511	67	320	320	0	strelka-varscan-mutect	RAG2,missense_variant,p.Arg486Lys,ENST00000618712,NM_001243785.1,NM_001243786.1;RAG2,missense_variant,p.Arg486Lys,ENST00000311485,NM_000536.3;C11orf74,upstream_gene_variant,,ENST00000446510,NM_001276723.1,NM_001276722.1;C11orf74,upstream_gene_variant,,ENST00000617650,NM_001276724.1;C11orf74,upstream_gene_variant,,ENST00000532470,;C11orf74,upstream_gene_variant,,ENST00000334307,NM_138787.3;C11orf74,upstream_gene_variant,,ENST00000534635,NM_001276725.1;C11orf74,upstream_gene_variant,,ENST00000531554,;C11orf74,upstream_gene_variant,,ENST00000347206,NM_001276727.1,NM_001276726.1;C11orf74,upstream_gene_variant,,ENST00000530697,;RAG2,downstream_gene_variant,,ENST00000529083,;RAG2,downstream_gene_variant,,ENST00000527033,;RAG2,downstream_gene_variant,,ENST00000532616,;C11orf74,upstream_gene_variant,,ENST00000527108,;RAG2,intron_variant,,ENST00000524423,;RAG2,downstream_gene_variant,,ENST00000528428,;RAG2,downstream_gene_variant,,ENST00000534379,;RAG2,downstream_gene_variant,,ENST00000530276,;RAG1,intron_variant,,ENST00000534663,;C11orf74,upstream_gene_variant,,ENST00000528092,;C11orf74,upstream_gene_variant,,ENST00000524539,;	T	ENST00000618712	Transcript	missense_variant	2051/2818	1457/1584	486/527	R/K	aGa/aAa	COSM5321763	1		-1	RAG2	HGNC	HGNC:9832	protein_coding	YES	CCDS7903.1	ENSP00000478672	P55895		UPI00001330E9	NM_001243785.1,NM_001243786.1	tolerated(0.55)		3/3		Pfam_domain:PF13341,hmmpanther:PTHR10960,hmmpanther:PTHR10960:SF0,Superfamily_domains:SSF57903											1						MODERATE	1	SNV	4		1	1										PASS		.	.												T	3	4	14	36592712	36592712	C	T	1	0	0	0	0	1	0	0	0	13165	913	32	3		3	RAG2	11	36592712	Missense_Mutation	SNP	C	C3L-00279_TP	1597731	36592712	98493910	412	6487											
DGKZ	0	.	GRCh38	chr11	46372823	46372823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcctgaagccgccaccccCtgttgccatcctgcccctgg	5	7	9	20	2	0	1	0	1	0	0	1	1	1	1	9	1	3	1	9	1	1	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1688C>T	p.Pro563Leu	p.P563L	ENST00000454345	14/32	228	188	40	157	157	0	strelka-varscan-mutect	DGKZ,missense_variant,p.Pro563Leu,ENST00000454345,NM_001105540.1;DGKZ,missense_variant,p.Pro391Leu,ENST00000343674,NM_201532.2;DGKZ,missense_variant,p.Pro374Leu,ENST00000456247,NM_001199267.1;DGKZ,missense_variant,p.Pro375Leu,ENST00000527911,NM_001199266.1;DGKZ,missense_variant,p.Pro352Leu,ENST00000318201,NM_001199268.1;DGKZ,missense_variant,p.Pro379Leu,ENST00000532868,NM_201533.3;DGKZ,missense_variant,p.Pro375Leu,ENST00000421244,NM_003646.3;DGKZ,missense_variant,p.Pro153Leu,ENST00000528615,;DGKZ,upstream_gene_variant,,ENST00000524869,;DGKZ,downstream_gene_variant,,ENST00000525242,;DGKZ,downstream_gene_variant,,ENST00000524448,;MIR4688,upstream_gene_variant,,ENST00000577966,;DGKZ,downstream_gene_variant,,ENST00000534215,;DGKZ,upstream_gene_variant,,ENST00000529660,;DGKZ,3_prime_UTR_variant,,ENST00000524984,;DGKZ,non_coding_transcript_exon_variant,,ENST00000528173,;DGKZ,non_coding_transcript_exon_variant,,ENST00000531879,;DGKZ,non_coding_transcript_exon_variant,,ENST00000527903,;DGKZ,upstream_gene_variant,,ENST00000527211,;DGKZ,downstream_gene_variant,,ENST00000527674,;DGKZ,upstream_gene_variant,,ENST00000529698,;DGKZ,downstream_gene_variant,,ENST00000533376,;	T	ENST00000454345	Transcript	missense_variant	1813/4086	1688/3354	563/1117	P/L	cCt/cTt		1		1	DGKZ	HGNC	HGNC:2857	protein_coding	YES	CCDS41640.1	ENSP00000412178	Q13574		UPI000013DB71	NM_001105540.1	deleterious(0)		14/32		Pfam_domain:PF00781,PROSITE_profiles:PS50146,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF43,SMART_domains:SM00046,Superfamily_domains:SSF111331																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	46372823	46372823	C	T	1	0	0	0	0	1	0	0	0	4280	681	24	3		3	DGKZ	11	46372823	Missense_Mutation	SNP	C	C3L-00279_TP	9780111	46372823	88713799	413	6488											
MTCH2	0	.	GRCh38	chr11	47634717	47634717	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagacttctttctgtacAtttccaggtcctaactcctg	8	15	7	11	0	2	1	0	1	2	1	5	3	5	1	3	1	2	1	3	1	2	5	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.324T>A	p.Asn108Lys	p.N108K	ENST00000302503	5/13	143	124	19	93	93	0	strelka-varscan-mutect	MTCH2,missense_variant,p.Asn108Lys,ENST00000302503,NM_001317231.1,NM_014342.3;MTCH2,missense_variant,p.Asn99Lys,ENST00000530428,;MTCH2,non_coding_transcript_exon_variant,,ENST00000539759,;MTCH2,non_coding_transcript_exon_variant,,ENST00000533571,;MTCH2,intron_variant,,ENST00000525649,;	T	ENST00000302503	Transcript	missense_variant	482/2587	324/912	108/303	N/K	aaT/aaA		1		-1	MTCH2	HGNC	HGNC:17587	protein_coding	YES	CCDS7943.1	ENSP00000303222	Q9Y6C9		UPI000006E280	NM_001317231.1,NM_014342.3	tolerated(0.24)		5/13		Superfamily_domains:0048588,Gene3D:1okcA00,hmmpanther:PTHR10780,hmmpanther:PTHR10780:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	47634717	47634717	A	T	1	0	0	0	0	1	0	0	0	9899	214	8	4		4	MTCH2	11	47634717	Missense_Mutation	SNP	A	C3L-00279_TP	1261894	47634717	87451905	414	6489											
PTPRJ	0	.	GRCh38	chr11	48145038	48145038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaacattaccttccaccCtcaaaacaaggggctcattg	13	8	5	15	0	2	0	2	0	0	0	3	0	3	0	4	2	3	1	4	2	5	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2825C>A	p.Pro942His	p.P942H	ENST00000418331	14/25	289	249	40	190	189	1	strelka-varscan-mutect	PTPRJ,missense_variant,p.Pro942His,ENST00000613246,;PTPRJ,missense_variant,p.Pro942His,ENST00000418331,NM_002843.3;PTPRJ,missense_variant,p.Pro946His,ENST00000615445,;PTPRJ,upstream_gene_variant,,ENST00000527026,;	A	ENST00000418331	Transcript	missense_variant	3177/5122	2825/4014	942/1337	P/H	cCt/cAt		1		1	PTPRJ	HGNC	HGNC:9673	protein_coding	YES	CCDS7945.1	ENSP00000400010	Q12913		UPI00004564C8	NM_002843.3	tolerated(0.13)		14/25		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF211																	MODERATE	1	SNV	1			1										PASS		rs1051417875	.												A	3	1	14	48145038	48145038	C	A	1	0	0	0	0	1	0	0	0	12958	681	24	2		2	PTPRJ	11	48145038	Missense_Mutation	SNP	C	C3L-00279_TP	510321	48145038	86941584	415	6490											
OR5F1	0	.	GRCh38	chr11	55994133	55994133	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcacagaatgacaagcTgctgacatggcttgtgttga	11	10	13	7	0	1	4	1	3	0	1	1	5	1	5	0	2	2	4	0	2	2	2	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.493A>T	p.Ser165Cys	p.S165C	ENST00000278409	1/1	296	266	30	273	273	0	strelka-varscan-mutect	OR5F1,missense_variant,p.Ser165Cys,ENST00000278409,NM_003697.1;	A	ENST00000278409	Transcript	missense_variant	493/945	493/945	165/314	S/C	Agc/Tgc		1		-1	OR5F1	HGNC	HGNC:8343	protein_coding	YES	CCDS31515.1	ENSP00000278409	O95221		UPI0000041D19	NM_003697.1	deleterious(0.05)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF168,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	14	55994133	55994133	T	A	1	0	0	0	0	1	0	0	0	11228	1580	55	4		4	OR5F1	11	55994133	Missense_Mutation	SNP	T	C3L-00279_TP	7849095	55994133	79092489	416	6491											
OR5M8	0	.	GRCh38	chr11	56490585	56490585	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaacagattcctttgaGgggggtctgagatacatgaa	11	12	12	6	0	2	4	1	3	1	2	3	5	3	4	1	3	2	1	1	3	3	4	rs760237003		C3L-00279_TP	C3L-00279_NB	G	G																c.786C>T	p.=	p.P262P	ENST00000327216	1/1	177	155	22	65	65	0	strelka-varscan-mutect	OR5M8,synonymous_variant,p.=,ENST00000327216,NM_001005282.1;	A	ENST00000327216	Transcript	synonymous_variant	786/936	786/936	262/311	P	ccC/ccT	rs760237003	1		-1	OR5M8	HGNC	HGNC:14846	protein_coding	YES	CCDS31533.1	ENSP00000323354	Q8NGP6	A0A126GWD6	UPI00000405CC	NM_001005282.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF146,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs1481959010	.												A	2	1	14	56490585	56490585	G	A	1	0	0	0	0	0	0	0	1	11245	987	35	3		3	OR5M8	11	56490585	Silent	SNP	G	C3L-00279_TP	496452	56490585	78596037	417	6492											
APLNR	0	.	GRCh38	chr11	57236276	57236276	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgatgctgagcagccggcgCcgcttccgcaggccctcgat	6	7	13	15	5	0	2	0	2	0	0	2	3	1	2	4	2	3	4	4	2	0	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.729G>C	p.=	p.R243R	ENST00000606794	1/1	132	122	10	140	140	0	strelka-varscan-mutect	APLNR,synonymous_variant,p.=,ENST00000606794,NM_005161.4;APLNR,synonymous_variant,p.=,ENST00000611099,;APLNR,synonymous_variant,p.=,ENST00000257254,;	G	ENST00000606794	Transcript	synonymous_variant	926/3609	729/1143	243/380	R	cgG/cgC		1		-1	APLNR	HGNC	HGNC:339	protein_coding	YES	CCDS7950.1	ENSP00000475344	P35414		UPI0000001622	NM_005161.4			1/1		Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF31,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												G	2	3	14	57236276	57236276	C	G	1	0	0	0	0	0	0	0	1	899	726	26	4		4	APLNR	11	57236276	Silent	SNP	C	C3L-00279_TP	745691	57236276	77850346	418	6493											
OR5B12	0	.	GRCh38	chr11	58439585	58439585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatctcactgatgtagttGtctgaacatgagagagtcaa	13	11	9	8	0	3	4	2	3	2	1	4	5	3	4	1	0	1	2	1	0	3	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.567C>A	p.Asp189Glu	p.D189E	ENST00000302572	1/1	166	155	11	104	104	0	strelka-varscan-mutect	OR5B12,missense_variant,p.Asp189Glu,ENST00000302572,NM_001004733.2;	T	ENST00000302572	Transcript	missense_variant	589/1054	567/945	189/314	D/E	gaC/gaA		1		-1	OR5B12	HGNC	HGNC:15432	protein_coding	YES	CCDS31551.1	ENSP00000306657	Q96R08		UPI00000015B2	NM_001004733.2	tolerated_low_confidence(0.06)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF15,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	14	58439585	58439585	G	T	1	0	0	0	0	1	0	0	0	11219	1368	48	2		2	OR5B12	11	58439585	Missense_Mutation	SNP	G	C3L-00279_TP	1203309	58439585	76647037	419	6494											
MS4A1	0	.	GRCh38	chr11	60464308	60464308	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatattatttccggatcactCctggcagcaacggagaaaaa	14	10	8	9	2	1	1	1	0	0	1	3	3	3	2	2	3	2	2	2	3	6	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.300C>A	p.=	p.L100L	ENST00000534668	4/7	415	383	32	247	246	1	strelka-varscan-mutect	MS4A1,synonymous_variant,p.=,ENST00000534668,NM_152866.2;MS4A1,synonymous_variant,p.=,ENST00000389939,;MS4A1,synonymous_variant,p.=,ENST00000345732,NM_021950.3;MS4A1,synonymous_variant,p.=,ENST00000532073,;MS4A1,synonymous_variant,p.=,ENST00000533306,;MS4A1,intron_variant,,ENST00000528313,;MS4A1,downstream_gene_variant,,ENST00000532491,;MS4A1,downstream_gene_variant,,ENST00000524807,;MS4A1,non_coding_transcript_exon_variant,,ENST00000534503,;MS4A1,downstream_gene_variant,,ENST00000527101,;MS4A1,upstream_gene_variant,,ENST00000532418,;MS4A1,upstream_gene_variant,,ENST00000530482,;	A	ENST00000534668	Transcript	synonymous_variant	589/3475	300/894	100/297	L	ctC/ctA		1		1	MS4A1	HGNC	HGNC:7315	protein_coding	YES	CCDS31570.1	ENSP00000433277	P11836	A0A024R507	UPI000012733B	NM_152866.2			4/7		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF79,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	14	60464308	60464308	C	A	1	0	0	0	0	0	0	0	1	9831	842	30	2		2	MS4A1	11	60464308	Silent	SNP	C	C3L-00279_TP	2024723	60464308	74622314	420	6495											
DDB1	0	.	GRCh38	chr11	61316314	61316314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgatgagccacgttgcCacagaagaaagtctgctgat	11	9	11	10	1	1	5	0	3	1	2	1	5	1	5	2	0	4	3	2	0	2	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1381G>T	p.Gly461Cys	p.G461C	ENST00000301764	12/27	170	157	13	148	148	0	strelka-varscan-mutect	DDB1,missense_variant,p.Gly461Cys,ENST00000301764,NM_001923.4;DDB1,intron_variant,,ENST00000543658,;DDB1,non_coding_transcript_exon_variant,,ENST00000545930,;DDB1,intron_variant,,ENST00000538280,;DDB1,missense_variant,p.Gly461Cys,ENST00000540166,;DDB1,non_coding_transcript_exon_variant,,ENST00000539739,;DDB1,non_coding_transcript_exon_variant,,ENST00000535967,;DDB1,non_coding_transcript_exon_variant,,ENST00000537877,;DDB1,non_coding_transcript_exon_variant,,ENST00000540784,;DDB1,non_coding_transcript_exon_variant,,ENST00000535174,;DDB1,upstream_gene_variant,,ENST00000535147,;DDB1,upstream_gene_variant,,ENST00000414411,;DDB1,upstream_gene_variant,,ENST00000539332,;DDB1,downstream_gene_variant,,ENST00000539712,;	A	ENST00000301764	Transcript	missense_variant	1779/4506	1381/3423	461/1140	G/C	Ggc/Tgc		1		-1	DDB1	HGNC	HGNC:2717	protein_coding	YES	CCDS31576.1	ENSP00000301764	Q16531		UPI0000000CB7	NM_001923.4	deleterious(0.04)		12/27		hmmpanther:PTHR10644,Gene3D:2.130.10.10,Pfam_domain:PF10433																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	61316314	61316314	C	A	1	0	0	0	0	1	0	0	0	4126	594	21	2		2	DDB1	11	61316314	Missense_Mutation	SNP	C	C3L-00279_TP	852006	61316314	73770308	421	6496											
AHNAK	0	.	GRCh38	chr11	62517840	62517840	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacttctgaacctttcagaCcacctttgatttcaggccca	9	13	5	14	0	3	3	2	2	1	1	3	3	3	3	4	1	2	0	4	1	2	5			C3L-00279_TP	C3L-00279_NB	C	C																c.16577G>C	p.Gly5526Ala	p.G5526A	ENST00000378024	5/5	242	215	27	224	224	0	strelka-varscan-mutect	AHNAK,missense_variant,p.Gly5526Ala,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	G	ENST00000378024	Transcript	missense_variant	16852/18787	16577/17673	5526/5890	G/A	gGt/gCt	COSM5263852,COSM5263853	1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2	deleterious(0.02)		5/5		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												G	3	3	14	62517840	62517840	C	G	1	0	0	0	0	1	0	0	0	491	507	18	4		4	AHNAK	11	62517840	Missense_Mutation	SNP	C	C3L-00279_TP	1201526	62517840	72568782	422	6497											
SLC22A8	0	.	GRCh38	chr11	62999786	62999786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggctgaaggctgcaccgGagccgctggctgccagcagc	6	5	17	13	2	0	1	0	1	0	0	0	2	0	2	3	5	5	6	3	5	1	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.494C>A	p.Ser165Tyr	p.S165Y	ENST00000336232	4/11	84	72	12	85	85	0	strelka-varscan-mutect	SLC22A8,missense_variant,p.Ser165Tyr,ENST00000336232,NM_001184732.1,NM_004254.3;SLC22A8,missense_variant,p.Ser165Tyr,ENST00000430500,;SLC22A8,missense_variant,p.Ser165Tyr,ENST00000311438,;SLC22A8,missense_variant,p.Ser74Tyr,ENST00000545207,NM_001184733.1;SLC22A8,missense_variant,p.Ser42Tyr,ENST00000535878,NM_001184736.1;SLC22A8,non_coding_transcript_exon_variant,,ENST00000542795,;SLC22A8,non_coding_transcript_exon_variant,,ENST00000542904,;SLC22A8,upstream_gene_variant,,ENST00000539841,;SLC22A8,upstream_gene_variant,,ENST00000451262,;	T	ENST00000336232	Transcript	missense_variant	630/2178	494/1629	165/542	S/Y	tCc/tAc		1		-1	SLC22A8	HGNC	HGNC:10972	protein_coding	YES	CCDS8042.1	ENSP00000337335	Q8TCC7		UPI0000036DF2	NM_001184732.1,NM_004254.3	deleterious(0)		4/11		Low_complexity_(Seg):seg,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF294,TIGRFAM_domain:TIGR00898,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		rs1489921809	.												T	3	4	14	62999786	62999786	G	T	1	0	0	0	0	1	0	0	0	14726	1174	41	2		2	SLC22A8	11	62999786	Missense_Mutation	SNP	G	C3L-00279_TP	481946	62999786	72086836	423	6498											
MARK2	0	.	GRCh38	chr11	63900664	63900664	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattcttaatcccagcaagAgaggcactttagaggtgagc	12	10	10	9	0	2	3	1	1	1	2	3	4	3	3	1	2	2	2	1	2	3	4	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.874A>G	p.Arg292Gly	p.R292G	ENST00000402010	9/19	145	126	19	102	102	0	strelka-varscan-mutect	MARK2,missense_variant,p.Arg292Gly,ENST00000402010,NM_001039469.2;MARK2,missense_variant,p.Arg259Gly,ENST00000377810,;MARK2,missense_variant,p.Arg292Gly,ENST00000361128,NM_001163296.1;MARK2,missense_variant,p.Arg292Gly,ENST00000508192,NM_004954.4;MARK2,missense_variant,p.Arg292Gly,ENST00000350490,NM_001163297.1;MARK2,missense_variant,p.Arg292Gly,ENST00000502399,;MARK2,missense_variant,p.Arg259Gly,ENST00000509502,NM_017490.3;MARK2,missense_variant,p.Arg259Gly,ENST00000513765,;MARK2,missense_variant,p.Arg259Gly,ENST00000408948,;MARK2,missense_variant,p.Arg259Gly,ENST00000425897,;MARK2,downstream_gene_variant,,ENST00000543220,;MARK2,downstream_gene_variant,,ENST00000540169,;MARK2,upstream_gene_variant,,ENST00000535116,;	G	ENST00000402010	Transcript	missense_variant	1453/4728	874/2367	292/788	R/G	Aga/Gga		1		1	MARK2	HGNC	HGNC:3332	protein_coding	YES	CCDS53649.1	ENSP00000385751	Q7KZI7		UPI00004F6F00	NM_001039469.2	deleterious(0)		9/19		PROSITE_profiles:PS50011,hmmpanther:PTHR24346,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	63900664	63900664	A	G	1	0	0	0	0	1	0	0	0	9238	296	11	5		5	MARK2	11	63900664	Missense_Mutation	SNP	A	C3L-00279_TP	900878	63900664	71185958	424	6499											
EHBP1L1	0	.	GRCh38	chr11	65585002	65585002	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtgtcgcggctgctggAgcccgcggacatggtgctac	4	7	18	12	5	0	0	0	0	0	0	1	2	0	2	1	5	4	3	1	5	1	1	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.3344A>T	p.Glu1115Val	p.E1115V	ENST00000309295	12/19	217	192	25	245	245	0	strelka-varscan-mutect	EHBP1L1,missense_variant,p.Glu1115Val,ENST00000309295,NM_001099409.1;EHBP1L1,missense_variant,p.Glu532Val,ENST00000533237,;EHBP1L1,missense_variant,p.Glu344Val,ENST00000634639,;EHBP1L1,missense_variant,p.Glu165Val,ENST00000533465,;EHBP1L1,intron_variant,,ENST00000529099,;EHBP1L1,downstream_gene_variant,,ENST00000526990,;	T	ENST00000309295	Transcript	missense_variant	3609/5185	3344/4572	1115/1523	E/V	gAg/gTg		1		1	EHBP1L1	HGNC	HGNC:30682	protein_coding	YES	CCDS44649.1	ENSP00000312671	Q8N3D4		UPI00001605A9	NM_001099409.1	deleterious(0.02)		12/19		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF295,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	65585002	65585002	A	T	1	0	0	0	0	1	0	0	0	4812	304	11	4		4	EHBP1L1	11	65585002	Missense_Mutation	SNP	A	C3L-00279_TP	1684338	65585002	69501620	425	6500											
NPAS4	0	.	GRCh38	chr11	66424630	66424630	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgcccccaagtcctagcagCcctggtaatggggactgcac	8	8	11	14	0	0	0	0	0	0	0	1	1	1	1	4	3	4	3	4	3	3	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1740C>A	p.Ser580Arg	p.S580R	ENST00000311034	7/8	223	204	19	212	212	0	strelka-varscan-mutect	NPAS4,missense_variant,p.Ser580Arg,ENST00000311034,NM_178864.3;NPAS4,3_prime_UTR_variant,,ENST00000525148,;NPAS4,downstream_gene_variant,,ENST00000524617,;	A	ENST00000311034	Transcript	missense_variant	1916/3303	1740/2409	580/802	S/R	agC/agA		1		1	NPAS4	HGNC	HGNC:18983	protein_coding	YES	CCDS8138.1	ENSP00000311196	Q8IUM7		UPI0000074744	NM_178864.3	deleterious(0)		7/8		hmmpanther:PTHR23043:SF24,hmmpanther:PTHR23043																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	66424630	66424630	C	A	1	0	0	0	0	1	0	0	0	10613	738	26	2		2	NPAS4	11	66424630	Missense_Mutation	SNP	C	C3L-00279_TP	839628	66424630	68661992	426	6501											
NADSYN1	0	.	GRCh38	chr11	71458456	71458456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gatgttgggatcattattacGagtcggacaccctcttgcac	9	12	10	10	2	2	0	1	0	1	0	3	4	2	2	1	2	2	2	1	2	2	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.175G>C	p.Glu59Gln	p.E59Q	ENST00000319023	3/21	185	165	20	169	169	0	strelka-varscan-mutect	NADSYN1,missense_variant,p.Glu59Gln,ENST00000319023,NM_018161.4;NADSYN1,non_coding_transcript_exon_variant,,ENST00000527538,;NADSYN1,non_coding_transcript_exon_variant,,ENST00000525245,;NADSYN1,non_coding_transcript_exon_variant,,ENST00000533769,;NADSYN1,missense_variant,p.Glu26Gln,ENST00000525200,;NADSYN1,missense_variant,p.Glu59Gln,ENST00000528509,;NADSYN1,missense_variant,p.Glu59Gln,ENST00000529120,;NADSYN1,non_coding_transcript_exon_variant,,ENST00000534634,;NADSYN1,non_coding_transcript_exon_variant,,ENST00000524949,;NADSYN1,downstream_gene_variant,,ENST00000533612,;	C	ENST00000319023	Transcript	missense_variant	363/2773	175/2121	59/706	E/Q	Gag/Cag		1		1	NADSYN1	HGNC	HGNC:29832	protein_coding	YES	CCDS8201.1	ENSP00000326424	Q6IA69		UPI00001404C2	NM_018161.4	deleterious(0)		3/21		PROSITE_profiles:PS50263,hmmpanther:PTHR23090:SF9,hmmpanther:PTHR23090,PIRSF_domain:PIRSF006630,Gene3D:3.60.110.10,Pfam_domain:PF00795,Superfamily_domains:SSF56317																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	14	71458456	71458456	G	C	1	0	0	0	0	1	0	0	0	10145	1059	37	4		4	NADSYN1	11	71458456	Missense_Mutation	SNP	G	C3L-00279_TP	5033826	71458456	63628166	427	6502											
INPPL1	0	.	GRCh38	chr11	72238055	72238055	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttaggctccgtgcctgcAgggcgggcgggccagcgggc	3	6	18	14	4	0	0	0	0	0	0	2	0	2	0	4	5	3	2	4	5	1	1	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.3566A>T	p.Gln1189Leu	p.Q1189L	ENST00000298229	27/28	49	43	6	36	36	0	strelka-varscan-mutect	INPPL1,missense_variant,p.Gln1189Leu,ENST00000298229,NM_001567.3;INPPL1,missense_variant,p.Gln947Leu,ENST00000538751,;INPPL1,missense_variant,p.Gln51Leu,ENST00000320683,;INPPL1,synonymous_variant,p.=,ENST00000541756,;INPPL1,intron_variant,,ENST00000541752,;PHOX2A,downstream_gene_variant,,ENST00000298231,NM_005169.3;PHOX2A,downstream_gene_variant,,ENST00000546310,;PHOX2A,downstream_gene_variant,,ENST00000544057,;INPPL1,intron_variant,,ENST00000535985,;INPPL1,downstream_gene_variant,,ENST00000541303,;INPPL1,downstream_gene_variant,,ENST00000545355,;	T	ENST00000298229	Transcript	missense_variant	3770/4733	3566/3777	1189/1258	Q/L	cAg/cTg		1		1	INPPL1	HGNC	HGNC:6080	protein_coding	YES	CCDS8213.1	ENSP00000298229	O15357		UPI000013E4AF	NM_001567.3	tolerated(0.09)		27/28																			MODERATE	1	SNV	1			1										PASS		rs1369263812	.												T	3	4	14	72238055	72238055	A	T	1	0	0	0	0	1	0	0	0	7664	188	7	4		4	INPPL1	11	72238055	Missense_Mutation	SNP	A	C3L-00279_TP	779599	72238055	62848567	428	6503											
CCDC83	0	.	GRCh38	chr11	85916132	85916132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcatgaaaatagcatcgaaGatctccagtatgtgaagata	16	10	9	6	1	2	4	1	2	1	2	4	5	2	4	1	0	1	2	1	0	7	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1072G>A	p.Asp358Asn	p.D358N	ENST00000280245	11/12	136	127	9	53	53	0	strelka-mutect	CCDC83,missense_variant,p.Asp358Asn,ENST00000280245,NM_173556.4;CCDC83,missense_variant,p.Asp327Asn,ENST00000342404,NM_001286159.1;CCDC83,missense_variant,p.Asp232Asn,ENST00000526729,;RP11-90K17.2,downstream_gene_variant,,ENST00000531414,;CCDC83,downstream_gene_variant,,ENST00000529676,;	A	ENST00000280245	Transcript	missense_variant	1584/2358	1072/1335	358/444	D/N	Gat/Aat		1		1	CCDC83	HGNC	HGNC:28535	protein_coding	YES	CCDS8271.1	ENSP00000280245	Q8IWF9		UPI00001C098D	NM_173556.4	tolerated(0.38)		11/12		hmmpanther:PTHR21468:SF1,hmmpanther:PTHR21468																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	14	85916132	85916132	G	A	1	0	0	0	0	1	0	0	0	2555	942	33	3		3	CCDC83	11	85916132	Missense_Mutation	SNP	G	C3L-00279_TP	13678077	85916132	49170490	429	6504											
GRM5	0	.	GRCh38	chr11	88597221	88597221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatggttcactgcacacaGatctgatgatgttgcttttc	9	14	8	10	0	2	3	1	2	1	1	3	3	2	3	0	1	2	4	0	1	0	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1526C>A	p.Ser509Tyr	p.S509Y	ENST00000305447	5/9	92	83	9	47	47	0	strelka-varscan-mutect	GRM5,missense_variant,p.Ser509Tyr,ENST00000455756,NM_000842.4;GRM5,missense_variant,p.Ser509Tyr,ENST00000305447,NM_001143831.2;GRM5,missense_variant,p.Ser509Tyr,ENST00000305432,;	T	ENST00000305447	Transcript	missense_variant	1676/4571	1526/3639	509/1212	S/Y	tCt/tAt		1		-1	GRM5	HGNC	HGNC:4597	protein_coding	YES	CCDS44694.1	ENSP00000306138	P41594		UPI000012F081	NM_001143831.2	deleterious(0)		5/9		Pfam_domain:PF07562,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	88597221	88597221	G	T	1	0	0	0	0	1	0	0	0	6682	942	33	2		2	GRM5	11	88597221	Missense_Mutation	SNP	G	C3L-00279_TP	2681089	88597221	46489401	430	6505											
TRIM49	0	.	GRCh38	chr11	89798519	89798519	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaagaaaacttctaggtgTtgcagtgaaatagggtacat	14	11	11	5	0	1	2	0	1	1	1	1	2	1	2	0	2	4	4	0	2	7	5	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.970A>T	p.Thr324Ser	p.T324S	ENST00000329758	8/8	208	190	18	154	154	0	varscan-mutect	TRIM49,missense_variant,p.Thr324Ser,ENST00000329758,NM_020358.2;TRIM49,missense_variant,p.Thr247Ser,ENST00000532501,;	A	ENST00000329758	Transcript	missense_variant	1299/2163	970/1359	324/452	T/S	Aca/Tca		1		-1	TRIM49	HGNC	HGNC:13431	protein_coding	YES	CCDS8287.1	ENSP00000327604	P0CI25		UPI000013431B	NM_020358.2	tolerated(0.48)		8/8		Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	89798519	89798519	T	A	1	0	0	0	0	1	0	0	0	17014	1725	60	4		4	TRIM49	11	89798519	Missense_Mutation	SNP	T	C3L-00279_TP	1201298	89798519	45288103	431	6506											
KDM4E	0	.	GRCh38	chr11	95026275	95026275	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgtgaggccttcctgCggcacaaagtggccctcatc	6	8	14	13	1	1	1	1	1	0	0	3	1	2	1	3	5	1	2	3	5	1	1	rs782053839		C3L-00279_TP	C3L-00279_NB	C	C																c.718C>A	p.=	p.R240R	ENST00000450979	1/1	537	463	74	505	504	1	strelka-varscan-mutect	KDM4E,synonymous_variant,p.=,ENST00000450979,NM_001161630.1;RP11-60C6.8,upstream_gene_variant,,ENST00000616726,;	A	ENST00000450979	Transcript	synonymous_variant	1018/2339	718/1521	240/506	R	Cgg/Agg	rs782053839,COSM5316192,COSM5316193	1		1	KDM4E	HGNC	HGNC:37098	protein_coding	YES	CCDS44713.1	ENSP00000397239	B2RXH2		UPI00001607E8	NM_001161630.1			1/1		PROSITE_profiles:PS51184,hmmpanther:PTHR10694:SF34,hmmpanther:PTHR10694,Pfam_domain:PF02373,SMART_domains:SM00558,Superfamily_domains:SSF51197											0,1,1						LOW	1	SNV			0,1,1	1										PASS		rs782053839	.												A	2	1	14	95026275	95026275	C	A	1	0	0	0	0	0	0	0	1	8050	759	27	1		1	KDM4E	11	95026275	Silent	SNP	C	C3L-00279_TP	5227756	95026275	40060347	432	6507											
DYNC2H1	0	.	GRCh38	chr11	103479122	103479122	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccatattctccggatGagtgcatctctttgcctgtt	5	16	10	10	1	2	1	0	1	2	0	5	2	3	2	3	2	2	2	3	2	1	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.12814G>T	p.Glu4272Ter	p.E4272*	ENST00000398093	90/90	241	217	24	186	185	1	strelka-varscan-mutect	DYNC2H1,stop_gained,p.Glu4265Ter,ENST00000375735,NM_001377.2;DYNC2H1,stop_gained,p.Glu4272Ter,ENST00000398093,NM_001080463.1;DYNC2H1,stop_gained,p.Glu878Ter,ENST00000334267,;DYNC2H1,stop_gained,p.Glu182Ter,ENST00000533197,;DYNC2H1,3_prime_UTR_variant,,ENST00000528670,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000527252,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000530547,;	T	ENST00000398093	Transcript	stop_gained	12814/12945	12814/12945	4272/4314	E/*	Gag/Tag		1		1	DYNC2H1	HGNC	HGNC:2962	protein_coding	YES	CCDS44717.1	ENSP00000381167	Q8NCM8		UPI0000481AC7	NM_001080463.1			90/90		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF282,Pfam_domain:PF03028																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	14	103479122	103479122	G	T	1	0	0	0	0	0	1	0	0	4670	1291	45	2		2	DYNC2H1	11	103479122	Nonsense_Mutation	SNP	G	C3L-00279_TP	8452847	103479122	31607500	433	6508											
ALG9	0	.	GRCh38	chr11	111837491	111837491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaagaaggaagctgctGggaaatcgataccactcttt	13	9	11	8	1	2	1	1	0	1	1	3	5	2	4	1	3	3	2	1	3	5	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1449C>T	p.=	p.P483P	ENST00000616540	12/15	393	350	43	316	316	0	strelka-varscan-mutect	ALG9,synonymous_variant,p.=,ENST00000532425,;RP11-108O10.8,synonymous_variant,p.=,ENST00000622211,;ALG9,synonymous_variant,p.=,ENST00000398006,NM_001077692.1;ALG9,synonymous_variant,p.=,ENST00000616540,NM_024740.2;ALG9,synonymous_variant,p.=,ENST00000614444,NM_001077690.1;ALG9,synonymous_variant,p.=,ENST00000531154,NM_001077691.1;ALG9,intron_variant,,ENST00000530851,;ALG9,downstream_gene_variant,,ENST00000527294,;ALG9,upstream_gene_variant,,ENST00000526272,;ALG9,3_prime_UTR_variant,,ENST00000619129,;ALG9,downstream_gene_variant,,ENST00000613181,;ALG9,downstream_gene_variant,,ENST00000527714,;	A	ENST00000616540	Transcript	synonymous_variant	1548/2069	1449/1857	483/618	P	ccC/ccT		1		-1	ALG9	HGNC	HGNC:15672	protein_coding	YES	CCDS73380.1	ENSP00000482437	Q9H6U8		UPI000006ED01	NM_024740.2			12/15		Pfam_domain:PF03901,hmmpanther:PTHR22760,hmmpanther:PTHR22760:SF2																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	111837491	111837491	G	A	1	0	0	0	0	0	0	0	1	624	1335	47	3		3	ALG9	11	111837491	Silent	SNP	G	C3L-00279_TP	8358369	111837491	23249131	434	6509											
TMPRSS5	0	.	GRCh38	chr11	113693185	113693185	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagccccttggtggggccTgacggcactgtggctgacca	6	7	15	13	1	0	3	0	2	0	1	0	3	0	3	4	5	1	2	4	5	0	1	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.850A>T	p.Arg284Trp	p.R284W	ENST00000299882	9/13	112	95	17	105	105	0	strelka-varscan-mutect	TMPRSS5,missense_variant,p.Arg284Trp,ENST00000299882,NM_030770.3;TMPRSS5,missense_variant,p.Arg275Trp,ENST00000545579,NM_001288751.1;TMPRSS5,missense_variant,p.Arg25Trp,ENST00000540540,;TMPRSS5,missense_variant,p.Arg240Trp,ENST00000538955,NM_001288750.1;TMPRSS5,missense_variant,p.Arg25Trp,ENST00000536856,;TMPRSS5,missense_variant,p.Arg215Trp,ENST00000544634,NM_001288752.1;TMPRSS5,missense_variant,p.Arg171Trp,ENST00000544476,NM_001288749.1;TMPRSS5,downstream_gene_variant,,ENST00000538770,;TMPRSS5,downstream_gene_variant,,ENST00000539732,;TMPRSS5,non_coding_transcript_exon_variant,,ENST00000545265,;TMPRSS5,non_coding_transcript_exon_variant,,ENST00000545412,;	A	ENST00000299882	Transcript	missense_variant	999/2232	850/1374	284/457	R/W	Agg/Tgg		1		-1	TMPRSS5	HGNC	HGNC:14908	protein_coding	YES	CCDS44735.1	ENSP00000299882	Q9H3S3		UPI00001FA3AA	NM_030770.3	deleterious(0.05)		9/13		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF144,hmmpanther:PTHR24256,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	113693185	113693185	T	A	1	0	0	0	0	1	0	0	0	16726	1579	55	4		4	TMPRSS5	11	113693185	Missense_Mutation	SNP	T	C3L-00279_TP	1855694	113693185	21393437	435	6510											
DSCAML1	0	.	GRCh38	chr11	117437208	117437208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcgcagctcgtaccacGtggcctctcgcagttccgtc	5	10	10	16	5	2	0	1	0	1	0	6	0	3	0	3	1	3	5	3	1	1	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.4814C>A	p.Thr1605Lys	p.T1605K	ENST00000321322	26/33	416	361	55	385	384	1	strelka-varscan-mutect	DSCAML1,missense_variant,p.Thr1605Lys,ENST00000321322,NM_020693.3;DSCAML1,missense_variant,p.Thr1335Lys,ENST00000527706,;	T	ENST00000321322	Transcript	missense_variant	4816/6899	4814/6342	1605/2113	T/K	aCg/aAg		1		-1	DSCAML1	HGNC	HGNC:14656	protein_coding	YES	CCDS8384.1	ENSP00000315465	Q8TD84		UPI00000726E2	NM_020693.3	deleterious(0)		26/33		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	117437208	117437208	G	T	1	0	0	0	0	1	0	0	0	4590	1145	40	1		1	DSCAML1	11	117437208	Missense_Mutation	SNP	G	C3L-00279_TP	3744023	117437208	17649414	436	6511											
TRIM29	0	.	GRCh38	chr11	120137656	120137656	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatggacttgcgcagctCgcccttttcggcaaaggtaa	11	9	11	10	3	0	0	0	0	0	0	2	2	0	1	1	3	2	4	1	3	4	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.376G>T	p.Glu126Ter	p.E126*	ENST00000341846	1/9	577	503	74	456	456	0	strelka-varscan-mutect	TRIM29,stop_gained,p.Glu126Ter,ENST00000341846,NM_012101.3;TRIM29,missense_variant,p.Arg75Leu,ENST00000627238,;TRIM29,downstream_gene_variant,,ENST00000532833,;TRIM29,downstream_gene_variant,,ENST00000529495,;TRIM29,downstream_gene_variant,,ENST00000529040,;TRIM29,downstream_gene_variant,,ENST00000529011,;TRIM29,missense_variant,p.Arg75Leu,ENST00000475051,;	A	ENST00000341846	Transcript	stop_gained	798/3328	376/1767	126/588	E/*	Gag/Tag		1		-1	TRIM29	HGNC	HGNC:17274	protein_coding	YES	CCDS8428.1	ENSP00000343129	Q14134	A0A024R3J1	UPI0000073FDE	NM_012101.3			1/9																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	14	120137656	120137656	C	A	1	0	0	0	0	0	1	0	0	16992	893	31	1		1	TRIM29	11	120137656	Nonsense_Mutation	SNP	C	C3L-00279_TP	2700448	120137656	14948966	437	6512											
TECTA	0	.	GRCh38	chr11	121165343	121165343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcgagctgggcaatggcagGgagctgtgtggctgcatcga	7	8	18	8	2	0	0	0	0	0	0	1	3	0	1	0	4	4	6	0	4	1	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.5343G>T	p.Arg1781Ser	p.R1781S	ENST00000392793	17/24	217	189	28	228	228	0	strelka-varscan-mutect	TECTA,missense_variant,p.Arg1781Ser,ENST00000392793,;TECTA,missense_variant,p.Arg1781Ser,ENST00000264037,NM_005422.2;	T	ENST00000392793	Transcript	missense_variant	5614/7426	5343/6468	1781/2155	R/S	agG/agT		1		1	TECTA	HGNC	HGNC:11720	protein_coding	YES	CCDS8434.1	ENSP00000376543	O75443		UPI000045659D		tolerated(0.41)		17/24		hmmpanther:PTHR11339:SF235,hmmpanther:PTHR11339																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	121165343	121165343	G	T	1	0	0	0	0	1	0	0	0	16158	1223	43	2		2	TECTA	11	121165343	Missense_Mutation	SNP	G	C3L-00279_TP	1027687	121165343	13921279	438	6513											
VWA5A	0	.	GRCh38	chr11	124123429	124123429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttcaacatctatggatttGgctcttcctatgaggcatgc	9	15	8	9	0	3	1	1	1	2	0	4	2	4	2	1	3	2	2	1	3	3	5	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.994G>A	p.Gly332Ser	p.G332S	ENST00000456829	9/19	181	159	22	152	152	0	strelka-varscan-mutect	VWA5A,missense_variant,p.Gly332Ser,ENST00000456829,NM_001130142.1;VWA5A,missense_variant,p.Gly332Ser,ENST00000392748,NM_014622.4;VWA5A,missense_variant,p.Gly348Ser,ENST00000392744,;VWA5A,missense_variant,p.Gly332Ser,ENST00000449321,;VWA5A,missense_variant,p.Gly332Ser,ENST00000361352,NM_198315.2;	A	ENST00000456829	Transcript	missense_variant	1245/4388	994/2361	332/786	G/S	Ggc/Agc		1		1	VWA5A	HGNC	HGNC:6658	protein_coding	YES	CCDS8444.1	ENSP00000407726	O00534	A0A024R3H3	UPI0000158B80	NM_001130142.1	deleterious(0)		9/19		PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF100,Pfam_domain:PF13768,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	124123429	124123429	G	A	1	0	0	0	0	1	0	0	0	17796	1348	47	3		3	VWA5A	11	124123429	Missense_Mutation	SNP	G	C3L-00279_TP	2958086	124123429	10963193	439	6514											
TBRG1	0	.	GRCh38	chr11	124625783	124625783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatggtgtggccagctctGtgggaactatacagggagct	8	11	14	8	0	1	0	0	0	1	0	1	2	1	2	1	4	4	2	1	4	4	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.334G>A	p.Val112Met	p.V112M	ENST00000441174	3/9	291	263	28	323	323	0	strelka-varscan-mutect	TBRG1,missense_variant,p.Val112Met,ENST00000441174,NM_032811.2;TBRG1,intron_variant,,ENST00000531667,;TBRG1,non_coding_transcript_exon_variant,,ENST00000438907,;TBRG1,non_coding_transcript_exon_variant,,ENST00000452080,;TBRG1,missense_variant,p.Val112Met,ENST00000284290,;TBRG1,missense_variant,p.Val112Met,ENST00000530731,;TBRG1,non_coding_transcript_exon_variant,,ENST00000473629,;TBRG1,intron_variant,,ENST00000529543,;TBRG1,upstream_gene_variant,,ENST00000491010,;TBRG1,upstream_gene_variant,,ENST00000531033,;	A	ENST00000441174	Transcript	missense_variant	538/4004	334/1236	112/411	V/M	Gtg/Atg		1		1	TBRG1	HGNC	HGNC:29551	protein_coding	YES	CCDS8448.2	ENSP00000409016	Q3YBR2		UPI000059F045	NM_032811.2	tolerated(0.23)		3/9		hmmpanther:PTHR22715,hmmpanther:PTHR22715:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	124625783	124625783	G	A	1	0	0	0	0	1	0	0	0	16053	1377	48	3		3	TBRG1	11	124625783	Missense_Mutation	SNP	G	C3L-00279_TP	502354	124625783	10460839	440	6515											
ETS1	0	.	GRCh38	chr11	128489297	128489297	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacatatttacctttctgCaggatctctagatgttccca	9	15	5	12	0	2	1	0	0	2	1	5	2	4	2	3	1	2	2	3	1	3	6	rs202110839		C3L-00279_TP	C3L-00279_NB	C	C																c.528G>C	p.=	p.L176L	ENST00000392668	5/10	183	166	17	154	154	0	strelka-varscan-mutect	ETS1,synonymous_variant,p.=,ENST00000392668,NM_001143820.1;ETS1,synonymous_variant,p.=,ENST00000526145,;ETS1,synonymous_variant,p.=,ENST00000319397,NM_005238.3;ETS1,synonymous_variant,p.=,ENST00000531611,;ETS1,intron_variant,,ENST00000535549,NM_001162422.1;ETS1,downstream_gene_variant,,ENST00000608978,;	G	ENST00000392668	Transcript	synonymous_variant	613/5139	528/1458	176/485	L	ctG/ctC	rs202110839	1		-1	ETS1	HGNC	HGNC:3488	protein_coding	YES	CCDS44767.1	ENSP00000376436	P14921		UPI00001BDB62	NM_001143820.1			5/10		PROSITE_profiles:PS51433,hmmpanther:PTHR11849:SF209,hmmpanther:PTHR11849,PIRSF_domain:PIRSF001698,Pfam_domain:PF02198,Gene3D:1.10.150.50,SMART_domains:SM00251,Superfamily_domains:SSF47769																	LOW	1	SNV	1			1										PASS		rs202110839	.												G	2	3	14	128489297	128489297	C	G	1	0	0	0	0	0	0	0	1	5139	697	25	4		4	ETS1	11	128489297	Silent	SNP	C	C3L-00279_TP	3863514	128489297	6597325	441	6516											
OPCML	0	.	GRCh38	chr11	132437253	132437253	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttactttccgcacatcGggcgcagcgacatcgttcaa	9	12	8	12	5	1	0	1	0	0	0	4	1	2	0	1	1	2	3	1	1	2	5	rs780275496		C3L-00279_TP	C3L-00279_NB	G	G																c.633C>A	p.=	p.P211P	ENST00000331898	4/7	201	178	23	189	188	1	strelka-varscan-mutect	OPCML,synonymous_variant,p.=,ENST00000331898,NM_001319106.1,NM_001319105.1,NM_002545.3;OPCML,synonymous_variant,p.=,ENST00000524381,NM_001012393.1;OPCML,synonymous_variant,p.=,ENST00000541867,;OPCML,synonymous_variant,p.=,ENST00000612177,;OPCML,synonymous_variant,p.=,ENST00000374778,;OPCML,non_coding_transcript_exon_variant,,ENST00000529038,;	T	ENST00000331898	Transcript	synonymous_variant	1212/6833	633/1038	211/345	P	ccC/ccA	rs780275496,COSM1352679,COSM1352680	1		-1	OPCML	HGNC	HGNC:8143	protein_coding	YES	CCDS8492.1	ENSP00000330862	Q14982	A8K0Y0	UPI0000055AE0	NM_001319106.1,NM_001319105.1,NM_002545.3			4/7		PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF107,SMART_domains:SM00409											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs780275496	.												T	2	4	14	132437253	132437253	G	T	1	0	0	0	0	0	0	0	1	10951	1103	39	1		1	OPCML	11	132437253	Silent	SNP	G	C3L-00279_TP	3947956	132437253	2649369	442	6517											
PZP	0	.	GRCh38	chr12	9202588	9202588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccagactttgggtgttcaGtaccagaactgtgttcctct	8	13	10	10	0	2	2	1	0	1	2	3	3	3	2	3	1	2	3	3	1	2	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.364C>A	p.Leu122Met	p.L122M	ENST00000261336	3/36	230	208	22	217	217	0	strelka-varscan-mutect	PZP,missense_variant,p.Leu122Met,ENST00000261336,NM_002864.2;PZP,missense_variant,p.Leu122Met,ENST00000535230,;	T	ENST00000261336	Transcript	missense_variant	393/4610	364/4449	122/1482	L/M	Ctg/Atg		1		-1	PZP	HGNC	HGNC:9750	protein_coding	YES	CCDS8600.1	ENSP00000261336	P20742		UPI000013D168	NM_002864.2	deleterious(0.04)		3/36		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF92																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	9202588	9202588	G	T	1	0	0	0	0	1	0	0	0	13025	1020	36	2		2	PZP	12	9202588	Missense_Mutation	SNP	G	C3L-00279_TP		9202588	124072721	443	6518											
PDE3A	0	.	GRCh38	chr12	20370145	20370145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatatcccggtgtttaaGaggaggaggcggtccagctc	10	8	15	8	2	0	2	0	0	0	2	3	5	2	4	2	5	1	2	2	5	3	3	rs747321056		C3L-00279_TP	C3L-00279_NB	G	G																c.861G>T	p.Lys287Asn	p.K287N	ENST00000359062	1/16	81	66	15	81	81	0	strelka-varscan-mutect	PDE3A,missense_variant,p.Lys287Asn,ENST00000359062,NM_000921.4,NM_001244683.1;RP11-284H19.1,non_coding_transcript_exon_variant,,ENST00000535755,;PDE3A,non_coding_transcript_exon_variant,,ENST00000542675,;	T	ENST00000359062	Transcript	missense_variant	901/7576	861/3426	287/1141	K/N	aaG/aaT	rs747321056	1		1	PDE3A	HGNC	HGNC:8778	protein_coding	YES	CCDS31754.1	ENSP00000351957	Q14432		UPI000014175F	NM_000921.4,NM_001244683.1	deleterious(0)		1/16		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF104																	MODERATE	1	SNV	1			1										PASS		rs747321056	.												T	3	4	14	20370145	20370145	G	T	1	0	0	0	0	1	0	0	0	11725	933	33	2		2	PDE3A	12	20370145	Missense_Mutation	SNP	G	C3L-00279_TP	11167557	20370145	112905164	444	6519											
ABCC9	0	.	GRCh38	chr12	21872643	21872643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acttgctccagtgaacttttCcttccaatgtctgcatctca	8	15	5	13	0	2	1	1	1	2	0	6	1	5	1	3	0	3	2	3	0	2	4			C3L-00279_TP	C3L-00279_NB	C	C																c.2180G>T	p.Gly727Val	p.G727V	ENST00000261200	16/38	280	244	36	219	219	0	strelka-varscan-mutect	ABCC9,missense_variant,p.Gly727Val,ENST00000261200,NM_020297.3;ABCC9,missense_variant,p.Gly727Val,ENST00000261201,NM_005691.3;ABCC9,missense_variant,p.Gly354Val,ENST00000544039,;RP11-729I10.2,intron_variant,,ENST00000539874,;	A	ENST00000261200	Transcript	missense_variant	2180/8293	2180/4650	727/1549	G/V	gGa/gTa	COSM5374868,COSM5374869	1		-1	ABCC9	HGNC	HGNC:60	protein_coding	YES	CCDS8693.1	ENSP00000261200	O60706		UPI000013D13F	NM_020297.3	deleterious(0)		16/38		PROSITE_profiles:PS50893,hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540											1,1						MODERATE		SNV	5		1,1	1										PASS		.	.												A	3	1	14	21872643	21872643	C	A	1	0	0	0	0	1	0	0	0	63	855	30	2		2	ABCC9	12	21872643	Missense_Mutation	SNP	C	C3L-00279_TP	1502498	21872643	111402666	445	6520											
KRAS	0	.	GRCh38	chr12	25245350	25245350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		C3L-00279_TP	C3L-00279_NB	C	C																c.35G>A	p.Gly12Asp	p.G12D	ENST00000256078	2/6	338	288	50	286	286	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Asp,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Asp,ENST00000556131,;KRAS,missense_variant,p.Gly12Asp,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Asp,ENST00000557334,;	T	ENST00000256078	Transcript	missense_variant	99/1119	35/570	12/189	G/D	gGt/gAt	rs121913529,CM087372,COSM1135366,COSM1140133,COSM1140134,COSM12657,COSM49168,COSM520,COSM521,COSM522	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,0,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1,1,1	1										PASS		rs121913529	.												T	3	4	14	25245350	25245350	C	T	1	0	0	0	0	1	0	0	0	8318	507	18	3		3	KRAS	12	25245350	Missense_Mutation	SNP	C	C3L-00279_TP	3372707	25245350	108029959	446	6521											
MMP19	0	.	GRCh38	chr12	55837100	55837100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggttatgcccgtacctgagGgagtggtattcccacctgat	8	11	12	10	1	0	2	0	2	0	0	1	3	1	3	4	3	2	3	4	3	3	4			C3L-00279_TP	C3L-00279_NB	G	G																c.1463C>T	p.Pro488Leu	p.P488L	ENST00000322569	9/9	84	68	16	86	86	0	strelka-varscan-mutect	MMP19,missense_variant,p.Pro488Leu,ENST00000322569,NM_002429.5;MMP19,missense_variant,p.Pro465Leu,ENST00000548629,;MMP19,3_prime_UTR_variant,,ENST00000409200,NM_001272101.1;TMEM198B,downstream_gene_variant,,ENST00000478241,;TMEM198B,downstream_gene_variant,,ENST00000508246,;TMEM198B,downstream_gene_variant,,ENST00000482378,;TMEM198B,downstream_gene_variant,,ENST00000471276,;TMEM198B,downstream_gene_variant,,ENST00000487582,;TMEM198B,downstream_gene_variant,,ENST00000636428,;TMEM198B,downstream_gene_variant,,ENST00000636659,;TMEM198B,downstream_gene_variant,,ENST00000635938,;TMEM198B,downstream_gene_variant,,ENST00000637783,;TMEM198B,downstream_gene_variant,,ENST00000637951,;TMEM198B,downstream_gene_variant,,ENST00000636790,;MMP19,downstream_gene_variant,,ENST00000547487,;TMEM198B,downstream_gene_variant,,ENST00000637092,;TMEM198B,downstream_gene_variant,,ENST00000637087,;MMP19,downstream_gene_variant,,ENST00000547299,;MMP19,3_prime_UTR_variant,,ENST00000548882,;MMP19,3_prime_UTR_variant,,ENST00000552872,;MMP19,non_coding_transcript_exon_variant,,ENST00000547685,;MMP19,downstream_gene_variant,,ENST00000552763,;TMEM198B,downstream_gene_variant,,ENST00000484016,;	A	ENST00000322569	Transcript	missense_variant	1555/2229	1463/1527	488/508	P/L	cCc/cTc	COSM3463270,COSM3463271	1		-1	MMP19	HGNC	HGNC:7165	protein_coding	YES	CCDS8895.1	ENSP00000313437	Q99542		UPI0000030AE6	NM_002429.5	tolerated_low_confidence(0.06)		9/9		Low_complexity_(Seg):seg,PIRSF_domain:PIRSF001191											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	14	55837100	55837100	G	A	1	0	0	0	0	1	0	0	0	9620	1232	43	3		3	MMP19	12	55837100	Missense_Mutation	SNP	G	C3L-00279_TP	30591750	55837100	77438209	447	6522											
GLI1	0	.	GRCh38	chr12	57464018	57464018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgtctggcccgcccttCtgccaccaagctaacctcat	7	9	8	17	1	3	0	1	0	2	0	3	1	3	1	5	2	3	1	5	2	2	2			C3L-00279_TP	C3L-00279_NB	C	C																c.120C>A	p.Phe40Leu	p.F40L	ENST00000228682	3/12	211	182	29	238	238	0	strelka-varscan-mutect	GLI1,missense_variant,p.Phe40Leu,ENST00000228682,NM_005269.2;GLI1,missense_variant,p.Phe40Leu,ENST00000528432,;GLI1,intron_variant,,ENST00000546141,NM_001167609.1;GLI1,intron_variant,,ENST00000543426,NM_001160045.1;GLI1,intron_variant,,ENST00000528467,;GLI1,intron_variant,,ENST00000532291,;INHBE,downstream_gene_variant,,ENST00000551553,;GLI1,intron_variant,,ENST00000530789,;GLI1,upstream_gene_variant,,ENST00000527742,;	A	ENST00000228682	Transcript	missense_variant	211/3613	120/3321	40/1106	F/L	ttC/ttA	COSM3812659	1		1	GLI1	HGNC	HGNC:4317	protein_coding	YES	CCDS8940.1	ENSP00000228682	P08151		UPI000012B607	NM_005269.2	tolerated(0.38)		3/12		hmmpanther:PTHR19818:SF2,hmmpanther:PTHR19818											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	14	57464018	57464018	C	A	1	0	0	0	0	1	0	0	0	6315	912	32	2		2	GLI1	12	57464018	Missense_Mutation	SNP	C	C3L-00279_TP	1626918	57464018	75811291	448	6523											
CDK4	0	.	GRCh38	chr12	57751647	57751647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggccactgtggggatcaCgggccttgtacactgtccca	7	9	13	12	1	1	0	1	0	0	0	2	1	2	1	3	4	1	1	3	4	1	2	rs104894340		C3L-00279_TP	C3L-00279_NB	C	C																c.71G>A	p.Arg24His	p.R24H	ENST00000257904	2/8	702	601	101	660	658	2	strelka-varscan-mutect	CDK4,missense_variant,p.Arg24His,ENST00000257904,NM_000075.3;CDK4,missense_variant,p.Arg24His,ENST00000312990,;CDK4,missense_variant,p.Arg24His,ENST00000552254,;CDK4,missense_variant,p.Arg24His,ENST00000552388,;CDK4,missense_variant,p.Arg24His,ENST00000552862,;CDK4,5_prime_UTR_variant,,ENST00000547281,;CDK4,5_prime_UTR_variant,,ENST00000551800,;CDK4,intron_variant,,ENST00000546489,;CDK4,intron_variant,,ENST00000549606,;TSPAN31,downstream_gene_variant,,ENST00000547992,;MARCH9,upstream_gene_variant,,ENST00000266643,NM_138396.5;TSPAN31,downstream_gene_variant,,ENST00000257910,NM_005981.3;TSPAN31,downstream_gene_variant,,ENST00000552816,;TSPAN31,downstream_gene_variant,,ENST00000548167,;TSPAN31,downstream_gene_variant,,ENST00000547472,;CDK4,downstream_gene_variant,,ENST00000547853,;MIR6759,upstream_gene_variant,,ENST00000638110,;CDK4,non_coding_transcript_exon_variant,,ENST00000551888,;TSPAN31,downstream_gene_variant,,ENST00000553221,;CDK4,missense_variant,p.Arg24His,ENST00000553237,;CDK4,missense_variant,p.Arg24His,ENST00000550419,;CDK4,non_coding_transcript_exon_variant,,ENST00000551706,;TSPAN31,downstream_gene_variant,,ENST00000550791,;TSPAN31,downstream_gene_variant,,ENST00000546993,;TSPAN31,downstream_gene_variant,,ENST00000549052,;TSPAN31,downstream_gene_variant,,ENST00000546922,;MARCH9,upstream_gene_variant,,ENST00000552279,;TSPAN31,downstream_gene_variant,,ENST00000553089,;CDK4,upstream_gene_variant,,ENST00000552713,;	T	ENST00000257904	Transcript	missense_variant	437/2076	71/912	24/303	R/H	cGt/cAt	rs104894340,CM980320,KinMutBase_CDK4_DNA:g.1072G>A,COSM1989836	1		-1	CDK4	HGNC	HGNC:1773	protein_coding	YES	CCDS8953.1	ENSP00000257904	P11802	A0A024RBB6	UPI0000113582	NM_000075.3	deleterious(0)		2/8		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF129,SMART_domains:SM00220,Superfamily_domains:SSF56112										risk_factor	0,0,0,1						MODERATE	1	SNV	1		1,1,0,1	1										PASS		rs104894340	.												T	3	4	14	57751647	57751647	C	T	1	0	0	0	0	1	0	0	0	2845	536	19	1		1	CDK4	12	57751647	Missense_Mutation	SNP	C	C3L-00279_TP	287629	57751647	75523662	449	6524											
NAP1L1	0	.	GRCh38	chr12	76055084	76055084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtgcttcagaataggttcatCgtgttccttcaaattaaaaa	13	14	7	7	1	3	1	3	0	0	1	5	1	4	1	1	1	1	3	1	1	6	6	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.565G>C	p.Asp189His	p.D189H	ENST00000618691	8/15	70	57	13	32	32	0	strelka-varscan-mutect	NAP1L1,missense_variant,p.Asp189His,ENST00000618691,;NAP1L1,missense_variant,p.Asp189His,ENST00000261182,NM_139207.2,NM_004537.4;NAP1L1,missense_variant,p.Asp121His,ENST00000431879,;NAP1L1,missense_variant,p.Asp183His,ENST00000552056,;NAP1L1,missense_variant,p.Asp126His,ENST00000547773,;NAP1L1,missense_variant,p.Asp189His,ENST00000393263,;NAP1L1,missense_variant,p.Asp189His,ENST00000549596,;NAP1L1,missense_variant,p.Asp189His,ENST00000535020,NM_001307924.1;NAP1L1,missense_variant,p.Asp147His,ENST00000542344,;NAP1L1,missense_variant,p.Asp6His,ENST00000544816,;NAP1L1,missense_variant,p.Asp200His,ENST00000552342,;NAP1L1,missense_variant,p.Asp148His,ENST00000548044,;NAP1L1,missense_variant,p.Asp189His,ENST00000551992,;NAP1L1,missense_variant,p.Asp162His,ENST00000550934,;NAP1L1,missense_variant,p.Asp148His,ENST00000548273,;NAP1L1,missense_variant,p.Asp195His,ENST00000551600,;NAP1L1,missense_variant,p.Asp196His,ENST00000547704,;NAP1L1,downstream_gene_variant,,ENST00000547479,;NAP1L1,downstream_gene_variant,,ENST00000551524,;NAP1L1,missense_variant,p.Asp150His,ENST00000552147,;NAP1L1,missense_variant,p.Asp129His,ENST00000547529,;NAP1L1,non_coding_transcript_exon_variant,,ENST00000547993,;NAP1L1,downstream_gene_variant,,ENST00000549988,;NAP1L1,upstream_gene_variant,,ENST00000547969,;RP11-290L1.4,upstream_gene_variant,,ENST00000552477,;	G	ENST00000618691	Transcript	missense_variant	1052/13505	565/1176	189/391	D/H	Gat/Cat		1		-1	NAP1L1	HGNC	HGNC:7637	protein_coding	YES	CCDS9013.1	ENSP00000477538	P55209	A0A024RBB7	UPI0000052A55		deleterious(0)		8/15		hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF70,Pfam_domain:PF00956,Superfamily_domains:SSF143113																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	76055084	76055084	C	G	1	0	0	0	0	1	0	0	0	10165	884	31	4		4	NAP1L1	12	76055084	Missense_Mutation	SNP	C	C3L-00279_TP	18303437	76055084	57220225	450	6525											
NTS	0	.	GRCh38	chr12	85878424	85878424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaataatttgaacagcccagCtgaggaaacaggagaagttc	17	7	10	7	0	0	3	0	2	0	1	1	5	0	4	1	2	4	2	1	2	5	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.215C>G	p.Ala72Gly	p.A72G	ENST00000256010	3/4	139	122	17	62	62	0	strelka-mutect	NTS,missense_variant,p.Ala72Gly,ENST00000256010,NM_006183.4;NTS,intron_variant,,ENST00000551529,;NTS,non_coding_transcript_exon_variant,,ENST00000550879,;	G	ENST00000256010	Transcript	missense_variant	322/1237	215/513	72/170	A/G	gCt/gGt		1		1	NTS	HGNC	HGNC:8038	protein_coding	YES	CCDS9029.1	ENSP00000256010	P30990	Q6FH20	UPI0000000CAD	NM_006183.4	tolerated(0.17)		3/4		PD016590,Pfam_domain:PF07421,Prints_domain:PR01668,hmmpanther:PTHR15356,hmmpanther:PTHR15356:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	85878424	85878424	C	G	1	0	0	0	0	1	0	0	0	10775	797	28	4		4	NTS	12	85878424	Missense_Mutation	SNP	C	C3L-00279_TP	9823340	85878424	47396885	451	6526											
GNPTAB	0	.	GRCh38	chr12	101760145	101760145	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttccagacctgtcaaatccTaacaaagaaaaagatgataa	19	8	6	8	0	1	4	1	1	0	3	3	4	3	4	3	0	1	1	3	0	6	3	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.3136-2A>G		p.X1046_splice	ENST00000299314		260	222	38	98	98	0	strelka-varscan-mutect	GNPTAB,splice_acceptor_variant,,ENST00000299314,NM_024312.4;GNPTAB,upstream_gene_variant,,ENST00000550718,;GNPTAB,upstream_gene_variant,,ENST00000549194,;GNPTAB,upstream_gene_variant,,ENST00000549738,;	C	ENST00000299314	Transcript	splice_acceptor_variant	-/5701	3136/3771	1046/1256				1		-1	GNPTAB	HGNC	HGNC:29670	protein_coding	YES	CCDS9088.1	ENSP00000299314	Q3T906		UPI000004CC0C	NM_024312.4				15/20																		HIGH	1	SNV	1			1										PASS		rs1367040986	.												C	5	2	14	101760145	101760145	T	C	1	0	0	0	0	0	0	1	0	6424	1536	53	5		5	GNPTAB	12	101760145	Splice_Site	SNP	T	C3L-00279_TP	15881721	101760145	31515164	452	6527											
TCP11L2	0	.	GRCh38	chr12	106329347	106329347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaagccgaggttgcaGgtgcctcatgaggctgacct	10	7	14	10	1	1	2	1	2	0	0	1	4	1	3	3	4	3	3	3	4	2	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.790G>T	p.Gly264Cys	p.G264C	ENST00000547153	7/7	243	208	35	243	243	0	strelka-varscan-mutect	TCP11L2,missense_variant,p.Gly264Cys,ENST00000547153,NM_001286262.1;TCP11L2,intron_variant,,ENST00000299045,NM_152772.2;TCP11L2,downstream_gene_variant,,ENST00000546625,;	T	ENST00000547153	Transcript	missense_variant	964/1788	790/801	264/266	G/C	Ggt/Tgt		1		1	TCP11L2	HGNC	HGNC:28627	protein_coding		CCDS66456.1	ENSP00000448952	Q8N4U5		UPI000013F7D0	NM_001286262.1	tolerated_low_confidence(0.11)		7/7		hmmpanther:PTHR12832,hmmpanther:PTHR12832:SF17																	MODERATE		SNV	2			1										PASS		rs1001046838	.												T	3	4	14	106329347	106329347	G	T	1	0	0	0	0	1	0	0	0	16122	1000	35	2		2	TCP11L2	12	106329347	Missense_Mutation	SNP	G	C3L-00279_TP	4569202	106329347	26945962	453	6528											
MAPKAPK5	0	.	GRCh38	chr12	111885932	111885932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaggctcctgaaggtcaaaCcggaggagagactcaccatc	13	5	11	12	1	2	2	2	1	0	1	4	5	3	4	3	4	1	1	3	4	2	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.865C>G	p.Pro289Ala	p.P289A	ENST00000551404	10/14	205	168	37	176	176	0	strelka-varscan-mutect	MAPKAPK5,missense_variant,p.Pro289Ala,ENST00000550735,NM_003668.3;MAPKAPK5,missense_variant,p.Pro289Ala,ENST00000551404,NM_139078.2;MAPKAPK5,missense_variant,p.Pro140Ala,ENST00000549875,;MAPKAPK5,3_prime_UTR_variant,,ENST00000553053,;MAPKAPK5,non_coding_transcript_exon_variant,,ENST00000552111,;MAPKAPK5,upstream_gene_variant,,ENST00000547067,;MAPKAPK5,upstream_gene_variant,,ENST00000547915,;	G	ENST00000551404	Transcript	missense_variant	973/1630	865/1422	289/473	P/A	Ccg/Gcg		1		1	MAPKAPK5	HGNC	HGNC:6889	protein_coding	YES	CCDS44975.1	ENSP00000449381	Q8IW41		UPI0000161429	NM_139078.2	tolerated(0.07)		10/14		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24349,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		rs1028263034	.												G	3	3	14	111885932	111885932	C	G	1	0	0	0	0	1	0	0	0	9215	507	18	4		4	MAPKAPK5	12	111885932	Missense_Mutation	SNP	C	C3L-00279_TP	5556585	111885932	21389377	454	6529											
TMEM132C	0	.	GRCh38	chr12	128616242	128616242	+	Missense_Mutation	SNP	G	G	T																															actcagcccatcacgtggcaGgtggagtacccacggaaggg																										C3L-00279_TP	C3L-00279_NB	G	G																c.1212G>T	p.Gln404His	p.Q404H	ENST00000435159	4/9	193	173	20	184	184	0	strelka-varscan-mutect	TMEM132C,missense_variant,p.Gln404His,ENST00000435159,NM_001136103.2;	T	ENST00000435159	Transcript	missense_variant	1212/4947	1212/3327	404/1108	Q/H	caG/caT	COSM4794713,COSM4794714	1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2	deleterious(0)		4/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	14	128616242	128616242	G	T	1	0	0	0	0	1	0	0	0	16491	991	35	2		2	TMEM132C	12	128616242	Missense_Mutation	SNP	G	C3L-00279_TP	16730310	128616242	4659067	455	6530	152	2									
TMEM132C	0	.	GRCh38	chr12	128616243	128616243	+	Missense_Mutation	SNP	G	G	T																															ctcagcccatcacgtggcagGtggagtacccacggaagggg																								novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1213G>T	p.Val405Leu	p.V405L	ENST00000435159	4/9	189	169	20	183	183	0	strelka-varscan-mutect	TMEM132C,missense_variant,p.Val405Leu,ENST00000435159,NM_001136103.2;	T	ENST00000435159	Transcript	missense_variant	1213/4947	1213/3327	405/1108	V/L	Gtg/Ttg		1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2	tolerated(0.09)		4/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4																	MODERATE	1	SNV	5			1										PASS		rs1269000296	.												T	3	4	14	128616243	128616243	G	T	1	0	0	0	0	1	0	0	0	16491	1261	44	2		2	TMEM132C	12	128616243	Missense_Mutation	SNP	G	C3L-00279_TP	1	128616243	4659066	456	6531	152	2									
TMEM132D	0	.	GRCh38	chr12	129074561	129074561	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtggctgttgtcatctaAaaggctttcctggcctttct	7	15	9	10	0	3	0	1	0	2	0	4	0	4	0	2	3	0	3	2	3	3	4	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.2614T>A	p.Leu872Ile	p.L872I	ENST00000422113	9/9	330	283	47	321	321	0	strelka-varscan-mutect	TMEM132D,missense_variant,p.Leu872Ile,ENST00000422113,NM_133448.2;TMEM132D,missense_variant,p.Leu410Ile,ENST00000389441,;	T	ENST00000422113	Transcript	missense_variant	2941/5776	2614/3300	872/1099	L/I	Tta/Ata		1		-1	TMEM132D	HGNC	HGNC:29411	protein_coding	YES	CCDS9266.1	ENSP00000408581	Q14C87		UPI000023759C	NM_133448.2	tolerated(0.31)		9/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	129074561	129074561	A	T	1	0	0	0	0	1	0	0	0	16492	11	1	4		4	TMEM132D	12	129074561	Missense_Mutation	SNP	A	C3L-00279_TP	458318	129074561	4200748	457	6532											
TMEM132D	0	.	GRCh38	chr12	129699937	129699937	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccagacgcagttctctcaGggagggtttcctgtgtgtct	5	13	13	10	1	3	1	1	0	2	1	6	2	5	2	2	2	0	3	2	2	0	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.841C>T	p.=	p.L281L	ENST00000422113	2/9	426	358	68	431	431	0	strelka-varscan-mutect	TMEM132D,synonymous_variant,p.=,ENST00000422113,NM_133448.2;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	A	ENST00000422113	Transcript	synonymous_variant	1168/5776	841/3300	281/1099	L	Ctg/Ttg		1		-1	TMEM132D	HGNC	HGNC:29411	protein_coding	YES	CCDS9266.1	ENSP00000408581	Q14C87		UPI000023759C	NM_133448.2			2/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF2																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	129699937	129699937	G	A	1	0	0	0	0	0	0	0	1	16492	991	35	3		3	TMEM132D	12	129699937	Silent	SNP	G	C3L-00279_TP	625376	129699937	3575372	458	6533											
RIMBP2	0	.	GRCh38	chr12	130399721	130399721	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgtatcttgagagtagtgGgatggagcatcagaaagata	13	9	15	4	1	2	3	1	1	1	3	2	6	2	5	0	3	1	3	0	3	4	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.3090C>A	p.=	p.S1030S	ENST00000261655	18/19	205	187	18	167	167	0	strelka-varscan-mutect	RIMBP2,synonymous_variant,p.=,ENST00000261655,NM_015347.4;RIMBP2,downstream_gene_variant,,ENST00000536632,;RIMBP2,3_prime_UTR_variant,,ENST00000540658,;	T	ENST00000261655	Transcript	synonymous_variant	3254/6321	3090/3159	1030/1052	S	tcC/tcA		1		-1	RIMBP2	HGNC	HGNC:30339	protein_coding	YES	CCDS31925.1	ENSP00000261655	O15034		UPI00001C1F42	NM_015347.4			18/19		hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18																	LOW	1	SNV	1			1										PASS		rs1216897016	.												T	2	4	14	130399721	130399721	G	T	1	0	0	0	0	0	0	0	1	13538	1219	43	2		2	RIMBP2	12	130399721	Silent	SNP	G	C3L-00279_TP	699784	130399721	2875588	459	6534											
NUP58	0	.	GRCh38	chr13	25315398	25315398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgactttgggaactacaGcagctacttcaactgcaggc	10	10	11	10	0	1	1	1	1	0	0	1	2	1	2	0	3	7	4	0	3	4	5	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.616G>T	p.Ala206Ser	p.A206S	ENST00000381736	6/16	175	143	32	95	95	0	strelka-varscan-mutect	NUP58,missense_variant,p.Ala206Ser,ENST00000463407,;NUP58,missense_variant,p.Ala206Ser,ENST00000381736,NM_014089.3;NUP58,missense_variant,p.Ala194Ser,ENST00000381718,NM_001008564.1;NUP58,missense_variant,p.Ala206Ser,ENST00000381747,;NUP58,missense_variant,p.Ala153Ser,ENST00000394327,;NUP58,non_coding_transcript_exon_variant,,ENST00000466694,;NUP58,non_coding_transcript_exon_variant,,ENST00000495460,;NUP58,upstream_gene_variant,,ENST00000476553,;NUP58,downstream_gene_variant,,ENST00000490231,;NUP58,downstream_gene_variant,,ENST00000465068,;	T	ENST00000381736	Transcript	missense_variant	866/4332	616/1800	206/599	A/S	Gca/Tca		1		1	NUP58	HGNC	HGNC:20261	protein_coding	YES	CCDS9314.1	ENSP00000371155	Q9BVL2		UPI000006D9D4	NM_014089.3	tolerated(0.11)		6/16		Low_complexity_(Seg):seg,hmmpanther:PTHR13437,Pfam_domain:PF15967																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	25315398	25315398	G	T	1	0	0	0	0	1	0	0	0	10833	971	34	2		2	NUP58	13	25315398	Missense_Mutation	SNP	G	C3L-00279_TP		25315398	89048930	460	6535											
ALOX5AP	0	.	GRCh38	chr13	30735550	30735550	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacttccccttcctgtacaGggcaggttgtgcagctggag	6	11	12	12	0	1	0	1	0	0	0	3	1	3	1	3	3	3	5	3	3	1	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.117-1G>T		p.X39_splice	ENST00000617770		188	162	26	138	138	0	strelka-varscan-mutect	ALOX5AP,splice_acceptor_variant,,ENST00000617770,NM_001204406.1;ALOX5AP,5_prime_UTR_variant,,ENST00000380490,NM_001629.3;	T	ENST00000617770	Transcript	splice_acceptor_variant	-/1224	117/657	39/218				1		1	ALOX5AP	HGNC	HGNC:436	protein_coding	YES	CCDS73558.1	ENSP00000479870		A0A087WW23	UPI0000E00F64	NM_001204406.1				1/5																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	14	30735550	30735550	G	T	1	0	0	0	0	0	0	1	0	641	1014	35	2		2	ALOX5AP	13	30735550	Splice_Site	SNP	G	C3L-00279_TP	5420152	30735550	83628778	461	6536											
HTR2A	0	.	GRCh38	chr13	46835323	46835323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgctgatggactgcatagtCctcctgcctgtgtaggaccc	6	12	11	12	0	0	1	0	1	0	0	2	3	2	3	4	2	3	3	4	2	2	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.930G>T	p.Arg310Ser	p.R310S	ENST00000542664	4/4	338	293	45	329	328	1	strelka-varscan-mutect	HTR2A,missense_variant,p.Arg310Ser,ENST00000542664,NM_000621.4;HTR2A,missense_variant,p.Arg310Ser,ENST00000378688,;HTR2A,missense_variant,p.Arg226Ser,ENST00000543956,NM_001165947.2;	A	ENST00000542664	Transcript	missense_variant	1661/5429	930/1416	310/471	R/S	agG/agT		1		-1	HTR2A	HGNC	HGNC:5293	protein_coding	YES	CCDS9405.1	ENSP00000437737	P28223		UPI000000126E	NM_000621.4	deleterious(0.02)		4/4		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF30,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	46835323	46835323	C	A	1	0	0	0	0	1	0	0	0	7337	854	30	2		2	HTR2A	13	46835323	Missense_Mutation	SNP	C	C3L-00279_TP	16099773	46835323	67529005	462	6537											
PCDH17	0	.	GRCh38	chr13	57632591	57632591	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcttctatgggcccctgcCctcactctcaagaacctcaa	8	12	5	16	0	5	1	3	0	3	1	6	1	5	1	4	1	2	0	4	1	4	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.45C>A	p.=	p.A15A	ENST00000377918	1/4	317	280	37	416	412	4	strelka-varscan-mutect	PCDH17,synonymous_variant,p.=,ENST00000377918,NM_001040429.2;PCDH17,upstream_gene_variant,,ENST00000612954,;PCDH17,upstream_gene_variant,,ENST00000615375,;RP11-95F22.1,downstream_gene_variant,,ENST00000610846,;PCDH17,synonymous_variant,p.=,ENST00000484979,;	A	ENST00000377918	Transcript	synonymous_variant	780/8232	45/3480	15/1159	A	gcC/gcA		1		1	PCDH17	HGNC	HGNC:14267	protein_coding	YES	CCDS31986.1	ENSP00000367151	O14917		UPI00001FCE5B	NM_001040429.2			1/4		Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41,Cleavage_site_(Signalp):SignalP-noTM,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	57632591	57632591	C	A	1	0	0	0	0	0	0	0	1	11599	610	22	2		2	PCDH17	13	57632591	Silent	SNP	C	C3L-00279_TP	10797268	57632591	56731737	463	6538											
TBC1D4	0	.	GRCh38	chr13	75362202	75362202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcatcaaagccagaatcttCcaaaatccgctcagggaagc	14	7	7	13	1	4	1	3	0	1	1	6	2	6	2	3	1	2	1	3	1	5	1	rs766539297		C3L-00279_TP	C3L-00279_NB	C	C																c.904G>A	p.Glu302Lys	p.E302K	ENST00000377636	2/21	462	409	53	448	448	0	strelka-varscan-mutect	TBC1D4,missense_variant,p.Glu302Lys,ENST00000377636,NM_014832.3;TBC1D4,missense_variant,p.Glu302Lys,ENST00000431480,NM_001286658.1;TBC1D4,missense_variant,p.Glu302Lys,ENST00000377625,NM_001286659.1;	T	ENST00000377636	Transcript	missense_variant	1251/6364	904/3897	302/1298	E/K	Gaa/Aaa	rs766539297,COSM4561933	1		-1	TBC1D4	HGNC	HGNC:19165	protein_coding	YES	CCDS41901.1	ENSP00000366863	O60343		UPI00001AE7B3	NM_014832.3	deleterious(0.01)		2/21		SMART_domains:SM00462											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs766539297	.												T	3	4	14	75362202	75362202	C	T	1	0	0	0	0	1	0	0	0	16027	864	30	3		3	TBC1D4	13	75362202	Missense_Mutation	SNP	C	C3L-00279_TP	17729611	75362202	39002126	464	6539											
CCDC168	0	.	GRCh38	chr13	102735250	102735250	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtacactggtcatatcCgcaactttttctctatcctt	8	16	4	13	1	2	0	1	0	1	0	6	0	5	0	3	1	2	2	3	1	4	6	rs111548184		C3L-00279_TP	C3L-00279_NB	C	C																c.15447G>A	p.=	p.A5149A	ENST00000322527	4/4	283	237	46	143	143	0	strelka-varscan-mutect	CCDC168,synonymous_variant,p.=,ENST00000322527,NM_001146197.1;	T	ENST00000322527	Transcript	synonymous_variant	15585/21466	15447/21246	5149/7081	A	gcG/gcA	rs111548184,COSM3384710,COSM3384711	1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1			4/4		Pfam_domain:PF15804,hmmpanther:PTHR35542,hmmpanther:PTHR35542:SF1											0,1,1						LOW	1	SNV	3		0,1,1	1										PASS		rs111548184	.												T	2	4	14	102735250	102735250	C	T	1	0	0	0	0	0	0	0	1	2484	639	23	1		1	CCDC168	13	102735250	Silent	SNP	C	C3L-00279_TP	27373048	102735250	11629078	465	6540											
SLC10A2	0	.	GRCh38	chr13	103051308	103051308	+	Frame_Shift_Del	DEL	C	C	-																															gaagaaaccccagggagtaaCccgccacaggaaatattgtt																								rs758439886		C3L-00279_TP	C3L-00279_NB	C	C																c.710delG	p.Gly237ValfsTer69	p.G237Vfs*69	ENST00000245312	4/6	362	305	57	362	362	0	sindel-varindel-pindel	SLC10A2,frameshift_variant,p.Gly237ValfsTer69,ENST00000245312,NM_000452.2;	-	ENST00000245312	Transcript	frameshift_variant	1307/3779	710/1047	237/348	G/X	gGt/gt	rs758439886	1		-1	SLC10A2	HGNC	HGNC:10906	protein_coding	YES	CCDS9506.1	ENSP00000245312	Q12908		UPI000013CB9B	NM_000452.2			4/6		Transmembrane_helices:TMhelix,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF19,TIGRFAM_domain:TIGR00841																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	14	103051308	103051308	C	-	1	0	1	0	1	0	0	0	0	14639	507	18	0		0	SLC10A2	13	103051308	Frame_Shift_Del	DEL	C	C3L-00279_TP	316058	103051308	11313020	466	6541											
COL4A2	0	.	GRCh38	chr13	110430571	110430571	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggccgccctgggcatgtGggacagatgggtccagttgg	5	7	17	12	2	0	1	0	0	0	1	1	2	1	2	4	5	0	2	4	5	0	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.612G>T	p.=	p.V204V	ENST00000360467	10/48	443	388	55	462	462	0	strelka-varscan-mutect	COL4A2,synonymous_variant,p.=,ENST00000360467,NM_001846.2;RP11-291I6.2,downstream_gene_variant,,ENST00000619688,;COL4A2,non_coding_transcript_exon_variant,,ENST00000462309,;	T	ENST00000360467	Transcript	synonymous_variant	918/6281	612/5139	204/1712	V	gtG/gtT		1		1	COL4A2	HGNC	HGNC:2203	protein_coding	YES	CCDS41907.1	ENSP00000353654	P08572	A0A024RDW8	UPI000041C713	NM_001846.2			10/48		hmmpanther:PTHR24023:SF588,hmmpanther:PTHR24023,Pfam_domain:PF01391																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	14	110430571	110430571	G	T	1	0	0	0	0	0	0	0	1	3479	1335	47	2		2	COL4A2	13	110430571	Silent	SNP	G	C3L-00279_TP	7379263	110430571	3933757	467	6542											
OR4Q3	0	.	GRCh38	chr14	19748029	19748029	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtggtagaggtgctggtgaTagccaacagtggtctgctgt	7	12	16	6	0	1	2	0	1	1	1	1	2	1	2	1	4	4	3	1	4	3	2	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.602T>G	p.Ile201Arg	p.I201R	ENST00000331723	1/1	398	354	44	327	327	0	strelka-varscan-mutect	OR4Q3,missense_variant,p.Ile201Arg,ENST00000331723,NM_172194.1;OR4N2,intron_variant,,ENST00000557414,;	G	ENST00000331723	Transcript	missense_variant	602/942	602/942	201/313	I/R	aTa/aGa		1		1	OR4Q3	HGNC	HGNC:15426	protein_coding	YES	CCDS32020.1	ENSP00000330049	Q8NH05	A0A126GW32	UPI0000061EF0	NM_172194.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF208,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	14	19748029	19748029	T	G	1	0	0	0	0	1	0	0	0	11157	1406	49	5		5	OR4Q3	14	19748029	Missense_Mutation	SNP	T	C3L-00279_TP		19748029	87295689	468	6543											
TTC5	0	.	GRCh38	chr14	20299413	20299413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgcagctgacgaagcacCattgacaggttttgcaagga	11	8	12	10	2	0	2	0	2	0	0	1	4	1	3	2	2	3	5	2	2	2	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.432G>T	p.Met144Ile	p.M144I	ENST00000258821	4/10	348	312	36	418	416	2	strelka-varscan-mutect	TTC5,missense_variant,p.Met144Ile,ENST00000258821,NM_138376.2;TTC5,downstream_gene_variant,,ENST00000553828,;TTC5,missense_variant,p.Gly122Cys,ENST00000383029,;TTC5,non_coding_transcript_exon_variant,,ENST00000554157,;TTC5,downstream_gene_variant,,ENST00000557379,;	A	ENST00000258821	Transcript	missense_variant	489/4779	432/1323	144/440	M/I	atG/atT		1		-1	TTC5	HGNC	HGNC:19274	protein_coding	YES	CCDS9546.1	ENSP00000258821	Q8N0Z6		UPI000013D00B	NM_138376.2	deleterious(0.01)		4/10		Gene3D:1.25.40.10,hmmpanther:PTHR26312,hmmpanther:PTHR26312:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	20299413	20299413	C	A	1	0	0	0	0	1	0	0	0	17220	594	21	2		2	TTC5	14	20299413	Missense_Mutation	SNP	C	C3L-00279_TP	551384	20299413	86744305	469	6544											
RPGRIP1	0	.	GRCh38	chr14	21294705	21294705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaactcaaccacccttGagcaggatgaaccgggagga	15	5	11	10	1	1	3	1	3	0	0	1	6	1	6	3	3	4	1	3	3	4	1			C3L-00279_TP	C3L-00279_NB	G	G																c.114G>T	p.Leu38Phe	p.L38F	ENST00000400017	2/24	228	207	21	158	158	0	strelka-varscan-mutect	RPGRIP1,missense_variant,p.Leu38Phe,ENST00000400017,NM_020366.3;RPGRIP1,missense_variant,p.Leu38Phe,ENST00000557771,;RPGRIP1,missense_variant,p.Leu38Phe,ENST00000556336,;	T	ENST00000400017	Transcript	missense_variant	114/3940	114/3861	38/1286	L/F	ttG/ttT	COSM416251,COSM4808846	1		1	RPGRIP1	HGNC	HGNC:13436	protein_coding	YES	CCDS45080.1	ENSP00000382895	Q96KN7		UPI0000071B81	NM_020366.3	tolerated(0.05)		2/24		hmmpanther:PTHR14240:SF3,hmmpanther:PTHR14240											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	14	21294705	21294705	G	T	1	0	0	0	0	1	0	0	0	13801	1281	45	2		2	RPGRIP1	14	21294705	Missense_Mutation	SNP	G	C3L-00279_TP	995292	21294705	85749013	470	6545											
PABPN1	0	.	GRCh38	chr14	23322255	23322255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaggagctacagaacgaGgtagagaagcagatgaatat	18	6	12	5	1	0	4	0	1	0	3	0	7	0	5	0	2	4	3	0	2	8	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.426G>T	p.Glu142Asp	p.E142D	ENST00000216727	2/7	372	319	53	333	333	0	strelka-varscan-mutect	PABPN1,missense_variant,p.Glu142Asp,ENST00000397276,;PABPN1,missense_variant,p.Glu142Asp,ENST00000216727,NM_004643.3;BCL2L2-PABPN1,missense_variant,p.Glu169Asp,ENST00000557008,;BCL2L2-PABPN1,missense_variant,p.Glu169Asp,ENST00000553781,NM_001199864.1;PABPN1,missense_variant,p.Glu14Asp,ENST00000556821,;PABPN1,missense_variant,p.Glu14Asp,ENST00000557702,;PABPN1,upstream_gene_variant,,ENST00000555295,;BCL2L2-PABPN1,downstream_gene_variant,,ENST00000556100,;PABPN1,non_coding_transcript_exon_variant,,ENST00000556809,;PABPN1,upstream_gene_variant,,ENST00000553960,;PABPN1,upstream_gene_variant,,ENST00000554062,;	T	ENST00000216727	Transcript	missense_variant	607/2001	426/921	142/306	E/D	gaG/gaT		1		1	PABPN1	HGNC	HGNC:8565	protein_coding	YES	CCDS9592.1	ENSP00000216727	Q86U42		UPI000006F6E7	NM_004643.3	tolerated(0.06)		2/7		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	23322255	23322255	G	T	1	0	0	0	0	1	0	0	0	11446	991	35	2		2	PABPN1	14	23322255	Missense_Mutation	SNP	G	C3L-00279_TP	2027550	23322255	83721463	471	6546											
JPH4	0	.	GRCh38	chr14	23571283	23571283	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagggaccctggtcccctCcaggaggcagtgggctccgg	7	5	16	13	1	0	1	0	0	0	1	3	3	3	3	5	6	0	2	5	6	1	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1448G>T	p.Gly483Val	p.G483V	ENST00000397118	6/7	75	65	10	88	88	0	strelka-varscan-mutect	JPH4,missense_variant,p.Gly483Val,ENST00000397118,NM_032452.2;JPH4,missense_variant,p.Gly483Val,ENST00000356300,NM_001146028.1;JPH4,missense_variant,p.Gly484Val,ENST00000622501,;JPH4,missense_variant,p.Gly148Val,ENST00000544177,;AP1G2,upstream_gene_variant,,ENST00000308724,NM_001282475.1;AP1G2,upstream_gene_variant,,ENST00000397120,NM_001282474.1,NM_003917.4;AP1G2,upstream_gene_variant,,ENST00000557189,;AP1G2,upstream_gene_variant,,ENST00000556843,;RP11-66N24.3,downstream_gene_variant,,ENST00000555968,;AP1G2,upstream_gene_variant,,ENST00000556277,;AP1G2,upstream_gene_variant,,ENST00000460049,;AP1G2,upstream_gene_variant,,ENST00000465445,;AP1G2,upstream_gene_variant,,ENST00000535852,;JPH4,downstream_gene_variant,,ENST00000553505,;AP1G2,upstream_gene_variant,,ENST00000556743,;AP1G2,upstream_gene_variant,,ENST00000553629,;AP1G2,upstream_gene_variant,,ENST00000557619,;AP1G2,upstream_gene_variant,,ENST00000555896,;AP1G2,upstream_gene_variant,,ENST00000554069,;AP1G2,upstream_gene_variant,,ENST00000556943,;AP1G2,upstream_gene_variant,,ENST00000557482,;AP1G2,upstream_gene_variant,,ENST00000553756,;AP1G2,upstream_gene_variant,,ENST00000554312,;AP1G2,upstream_gene_variant,,ENST00000553685,;AP1G2,upstream_gene_variant,,ENST00000554816,;	A	ENST00000397118	Transcript	missense_variant	2351/4386	1448/1887	483/628	G/V	gGa/gTa		1		-1	JPH4	HGNC	HGNC:20156	protein_coding	YES	CCDS9603.1	ENSP00000380307	Q96JJ6		UPI00001C1F68	NM_032452.2	tolerated(0.08)		6/7		hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF14,PIRSF_domain:PIRSF037387																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	23571283	23571283	C	A	1	0	0	0	0	1	0	0	0	7875	855	30	2		2	JPH4	14	23571283	Missense_Mutation	SNP	C	C3L-00279_TP	249028	23571283	83472435	472	6547											
DHRS2	0	.	GRCh38	chr14	23639004	23639004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtcacggggtccaccagtgGgtgagtgctggattgcccat	6	9	16	10	1	1	1	1	1	0	0	2	2	2	2	3	5	2	1	3	5	0	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.140G>T	p.Gly47Val	p.G47V	ENST00000344777	2/9	123	110	13	129	129	0	strelka-varscan-mutect	DHRS2,missense_variant,p.Gly47Val,ENST00000250383,NM_005794.3;DHRS2,missense_variant,p.Gly47Val,ENST00000344777,NM_182908.4;DHRS2,missense_variant,p.Gly47Val,ENST00000611765,;DHRS2,missense_variant,p.Gly47Val,ENST00000432832,;DHRS2,upstream_gene_variant,,ENST00000557535,;DHRS2,upstream_gene_variant,,ENST00000553600,;DHRS2,splice_region_variant,,ENST00000553896,;DHRS2,splice_region_variant,,ENST00000556729,;DHRS2,splice_region_variant,,ENST00000556701,;DHRS2,upstream_gene_variant,,ENST00000556550,;	T	ENST00000344777	Transcript	missense_variant,splice_region_variant	578/1678	140/903	47/300	G/V	gGg/gTg		1		1	DHRS2	HGNC	HGNC:18349	protein_coding	YES	CCDS41927.1	ENSP00000344674	Q13268		UPI00001A3E34	NM_182908.4	deleterious(0)		2/9		hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF322,Gene3D:3.40.50.720,Pfam_domain:PF00106,Superfamily_domains:SSF51735,Prints_domain:PR00081																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	23639004	23639004	G	T	1	0	0	0	0	1	0	0	0	4295	1246	43	2		2	DHRS2	14	23639004	Missense_Mutation	SNP	G	C3L-00279_TP	67721	23639004	83404714	473	6548											
SCFD1	0	.	GRCh38	chr14	30633981	30633981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgagatcctattccagatGttcctgcagtatactttgta	10	15	7	9	1	0	2	0	0	0	2	4	3	3	2	3	0	2	4	3	0	4	7	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.256G>T	p.Val86Phe	p.V86F	ENST00000458591	4/25	96	89	7	52	52	0	strelka-mutect	SCFD1,missense_variant,p.Val86Phe,ENST00000458591,NM_016106.3;SCFD1,missense_variant,p.Val19Phe,ENST00000544052,NM_182835.2;SCFD1,missense_variant,p.Val61Phe,ENST00000557076,;SCFD1,5_prime_UTR_variant,,ENST00000396629,NM_001283032.1,NM_001283033.1,NM_001283031.1,NM_001257376.1;SCFD1,intron_variant,,ENST00000553693,;SCFD1,missense_variant,p.Val19Phe,ENST00000484733,;SCFD1,missense_variant,p.Val86Phe,ENST00000311943,;SCFD1,missense_variant,p.Val66Phe,ENST00000554776,;SCFD1,missense_variant,p.Val61Phe,ENST00000557713,;SCFD1,3_prime_UTR_variant,,ENST00000463622,;SCFD1,intron_variant,,ENST00000556768,;SCFD1,intron_variant,,ENST00000555259,;SCFD1,upstream_gene_variant,,ENST00000556534,;SCFD1,downstream_gene_variant,,ENST00000556413,;	T	ENST00000458591	Transcript	missense_variant	483/2359	256/1929	86/642	V/F	Gtt/Ttt		1		1	SCFD1	HGNC	HGNC:20726	protein_coding	YES	CCDS9639.1	ENSP00000390783	Q8WVM8		UPI000013C6E3	NM_016106.3	deleterious(0)		4/25		Gene3D:3.40.50.2060,Pfam_domain:PF00995,PIRSF_domain:PIRSF005715,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF2,Superfamily_domains:SSF56815																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	30633981	30633981	G	T	1	0	0	0	0	1	0	0	0	14155	1377	48	2		2	SCFD1	14	30633981	Missense_Mutation	SNP	G	C3L-00279_TP	6994977	30633981	76409737	474	6549											
PYGL	0	.	GRCh38	chr14	50910016	50910016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccgatagttagggcccCatttagcatgaacttcatat	10	12	9	10	1	1	1	1	1	0	0	2	2	2	1	3	2	2	2	3	2	5	6	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2056G>T	p.Gly686Trp	p.G686W	ENST00000216392	17/20	548	498	50	493	493	0	strelka-varscan-mutect	PYGL,missense_variant,p.Gly686Trp,ENST00000216392,NM_002863.4;PYGL,missense_variant,p.Gly686Trp,ENST00000532462,;PYGL,missense_variant,p.Gly652Trp,ENST00000544180,NM_001163940.1;RP11-218E20.5,upstream_gene_variant,,ENST00000557343,;PYGL,non_coding_transcript_exon_variant,,ENST00000532107,;	A	ENST00000216392	Transcript	missense_variant	2389/3048	2056/2544	686/847	G/W	Ggg/Tgg		1		-1	PYGL	HGNC	HGNC:9725	protein_coding	YES	CCDS32080.1	ENSP00000216392	P06737		UPI000011136E	NM_002863.4	deleterious(0)		17/20		hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF12,TIGRFAM_domain:TIGR02093,Gene3D:3.40.50.2000,Pfam_domain:PF00343,PIRSF_domain:PIRSF000460,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	50910016	50910016	C	A	1	0	0	0	0	1	0	0	0	13015	594	21	2		2	PYGL	14	50910016	Missense_Mutation	SNP	C	C3L-00279_TP	20276035	50910016	56133702	475	6550											
DACT1	0	.	GRCh38	chr14	58646706	58646706	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggccctgaggagggccCggcgcggtcgccgggagaat	8	3	19	11	5	0	3	0	1	0	2	1	5	0	4	3	6	0	0	3	6	2	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2083C>A	p.=	p.R695R	ENST00000335867	4/4	203	188	15	253	253	0	strelka-varscan-mutect	DACT1,synonymous_variant,p.=,ENST00000395153,NM_001079520.1;DACT1,synonymous_variant,p.=,ENST00000541264,;DACT1,synonymous_variant,p.=,ENST00000335867,NM_016651.5;DACT1,synonymous_variant,p.=,ENST00000556859,;DACT1,downstream_gene_variant,,ENST00000421793,;DACT1,downstream_gene_variant,,ENST00000555845,;	A	ENST00000335867	Transcript	synonymous_variant	2107/2571	2083/2511	695/836	R	Cgg/Agg		1		1	DACT1	HGNC	HGNC:17748	protein_coding	YES	CCDS9736.1	ENSP00000337439	Q9NYF0		UPI000013E4D3	NM_016651.5			4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF12,Pfam_domain:PF15268																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	14	58646706	58646706	C	A	1	0	0	0	0	0	0	0	1	4023	643	23	1		1	DACT1	14	58646706	Silent	SNP	C	C3L-00279_TP	7736690	58646706	48397012	476	6551											
C14orf39	0	.	GRCh38	chr14	60485072	60485072	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaactgacaaacaggctgtCattcatcttggatactatgt	13	12	7	9	0	3	1	2	1	1	0	3	2	3	2	0	2	3	1	0	2	4	4	rs142135991		C3L-00279_TP	C3L-00279_NB	C	C																c.7G>C	p.Asp3His	p.D3H	ENST00000321731	2/18	93	86	7	61	61	0	strelka-mutect	C14orf39,missense_variant,p.Asp3His,ENST00000321731,NM_174978.2;C14orf39,missense_variant,p.Asp3His,ENST00000556799,;C14orf39,intron_variant,,ENST00000555476,;C14orf39,missense_variant,p.Asp3His,ENST00000557138,;	G	ENST00000321731	Transcript	missense_variant	167/2813	7/1764	3/587	D/H	Gac/Cac	rs142135991	1		-1	C14orf39	HGNC	HGNC:19849	protein_coding	YES	CCDS9746.1	ENSP00000324920	Q8N1H7		UPI0000140C15	NM_174978.2	deleterious(0.02)		2/18		hmmpanther:PTHR35449																	MODERATE	1	SNV	1			1										PASS		rs142135991	.												G	3	3	14	60485072	60485072	C	G	1	0	0	0	0	1	0	0	0	1839	826	29	4		4	C14orf39	14	60485072	Missense_Mutation	SNP	C	C3L-00279_TP	1838366	60485072	46558646	477	6552											
SYT16	0	.	GRCh38	chr14	62100618	62100618	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctgggccagaacagcAgtggagaggaggaacaagat	13	5	15	8	0	0	3	0	0	0	3	0	6	0	5	2	4	4	1	2	4	3	1	rs769941155		C3L-00279_TP	C3L-00279_NB	A	A																c.1849A>T	p.Ser617Cys	p.S617C	ENST00000568344	6/6	352	315	37	289	288	1	strelka-varscan-mutect	SYT16,missense_variant,p.Ser617Cys,ENST00000568344,NM_031914.2;SYT16,missense_variant,p.Ser175Cys,ENST00000430451,;RP11-355I22.2,downstream_gene_variant,,ENST00000554252,;SYT16,3_prime_UTR_variant,,ENST00000555409,;	T	ENST00000568344	Transcript	missense_variant	2046/13978	1849/1938	617/645	S/C	Agt/Tgt	rs769941155	1		1	SYT16	HGNC	HGNC:23142	protein_coding	YES	CCDS45121.1	ENSP00000478637	Q17RD7		UPI0000EE1AC0	NM_031914.2	deleterious(0)		6/6		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF113,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		rs769941155	.												T	3	4	14	62100618	62100618	A	T	1	0	0	0	0	1	0	0	0	15866	188	7	4		4	SYT16	14	62100618	Missense_Mutation	SNP	A	C3L-00279_TP	1615546	62100618	44943100	478	6553											
SYNE2	0	.	GRCh38	chr14	64225035	64225035	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagaaggcgaggaggagAcagagagcaggtaacggggc	14	2	18	7	2	0	3	0	0	0	3	0	7	0	4	0	6	3	2	0	6	3	2	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.20506A>T	p.Thr6836Ser	p.T6836S	ENST00000358025	115/116	448	404	44	404	404	0	strelka-varscan-mutect	SYNE2,missense_variant,p.Thr6836Ser,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Thr6814Ser,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Asp6740Val,ENST00000357395,;SYNE2,missense_variant,p.Asp6734Val,ENST00000554584,;SYNE2,missense_variant,p.Thr3470Ser,ENST00000555002,;SYNE2,missense_variant,p.Thr3199Ser,ENST00000394768,;SYNE2,missense_variant,p.Thr692Ser,ENST00000555022,;SYNE2,missense_variant,p.Thr597Ser,ENST00000554805,;SYNE2,missense_variant,p.Thr358Ser,ENST00000441438,NM_182910.2;SYNE2,missense_variant,p.Thr485Ser,ENST00000458046,NM_182913.2;ESR2,intron_variant,,ENST00000556275,;ESR2,downstream_gene_variant,,ENST00000554572,NM_001291712.1;ESR2,downstream_gene_variant,,ENST00000353772,NM_001040275.1;ESR2,downstream_gene_variant,,ENST00000358599,NM_001291723.1;ESR2,downstream_gene_variant,,ENST00000555278,NM_001214902.1;ESR2,downstream_gene_variant,,ENST00000553796,NM_001271876.1;SYNE2,3_prime_UTR_variant,,ENST00000555612,;SYNE2,3_prime_UTR_variant,,ENST00000553289,;ESR2,downstream_gene_variant,,ENST00000344288,;SYNE2,downstream_gene_variant,,ENST00000554928,;	T	ENST00000358025	Transcript	missense_variant	20718/21842	20506/20724	6836/6907	T/S	Aca/Tca		1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2	tolerated(1)		115/116		Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF317																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	64225035	64225035	A	T	1	0	0	0	0	1	0	0	0	15838	275	10	4		4	SYNE2	14	64225035	Missense_Mutation	SNP	A	C3L-00279_TP	2124417	64225035	42818683	479	6554											
SPTB	0	.	GRCh38	chr14	64822984	64822984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggacctctcaaagagcctGgctgagctgttgtcattatc	8	11	11	11	1	2	2	2	1	1	1	4	3	2	3	2	2	2	3	2	2	2	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.111C>T	p.=	p.A37A	ENST00000556626	2/36	624	562	62	591	591	0	strelka-varscan-mutect	SPTB,synonymous_variant,p.=,ENST00000556626,;SPTB,synonymous_variant,p.=,ENST00000389722,NM_001024858.2;SPTB,synonymous_variant,p.=,ENST00000389721,NM_000347.5;SPTB,synonymous_variant,p.=,ENST00000389720,;	A	ENST00000556626	Transcript	synonymous_variant	254/10153	111/6987	37/2328	A	gcC/gcT		1		-1	SPTB	HGNC	HGNC:11274	protein_coding	YES	CCDS32099.1	ENSP00000451752	P11277		UPI000053030D				2/36		PIRSF_domain:PIRSF002297,Superfamily_domains:SSF47576																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	64822984	64822984	G	A	1	0	0	0	0	0	0	0	1	15474	1335	47	3		3	SPTB	14	64822984	Silent	SNP	G	C3L-00279_TP	597949	64822984	42220734	480	6555											
GALNT16	0	.	GRCh38	chr14	69338677	69338677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagggtgtggatgtgtGgtggcagtctggagatcgtc	5	12	17	7	1	2	1	1	0	1	1	4	3	2	2	1	5	0	1	1	5	0	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.994G>T	p.Gly332Cys	p.G332C	ENST00000337827	10/16	222	197	25	169	169	0	strelka-mutect	GALNT16,missense_variant,p.Gly332Cys,ENST00000337827,NM_001168368.1,NM_020692.2;GALNT16,missense_variant,p.Gly332Cys,ENST00000448469,;GALNT16,missense_variant,p.Gly332Cys,ENST00000553669,;GALNT16,non_coding_transcript_exon_variant,,ENST00000556677,;GALNT16,missense_variant,p.Gly332Cys,ENST00000553471,;	T	ENST00000337827	Transcript	missense_variant	1321/5708	994/1677	332/558	G/C	Ggt/Tgt		1		1	GALNT16	HGNC	HGNC:23233	protein_coding	YES	CCDS32107.1	ENSP00000336729	Q8N428	Q68VJ8	UPI000004D296	NM_001168368.1,NM_020692.2	deleterious(0)		10/16		hmmpanther:PTHR11675:SF3,hmmpanther:PTHR11675,Gene3D:3.90.550.10,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	69338677	69338677	G	T	1	0	0	0	0	1	0	0	0	6082	1348	47	2		2	GALNT16	14	69338677	Missense_Mutation	SNP	G	C3L-00279_TP	4515693	69338677	37705041	481	6556											
SLC8A3	0	.	GRCh38	chr14	70166933	70166933	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaatattgctggaggcatcCcctcctctggctgctcctcc	5	12	9	15	0	1	1	0	1	1	0	5	2	5	2	5	3	2	4	5	3	2	2	rs139479097		C3L-00279_TP	C3L-00279_NB	C	C																c.1490G>C	p.Gly497Ala	p.G497A	ENST00000381269	2/8	314	283	31	288	288	0	strelka-varscan-mutect	SLC8A3,missense_variant,p.Gly497Ala,ENST00000381269,NM_183002.2;SLC8A3,missense_variant,p.Gly497Ala,ENST00000357887,NM_033262.4;SLC8A3,missense_variant,p.Gly497Ala,ENST00000356921,NM_182932.2;SLC8A3,missense_variant,p.Gly497Ala,ENST00000528359,;SLC8A3,missense_variant,p.Gly497Ala,ENST00000534137,NM_058240.3;SLC8A3,missense_variant,p.Gly497Ala,ENST00000494208,;	G	ENST00000381269	Transcript	missense_variant	2244/5268	1490/2784	497/927	G/A	gGg/gCg	rs139479097	1		-1	SLC8A3	HGNC	HGNC:11070	protein_coding	YES	CCDS35498.1	ENSP00000370669	P57103		UPI0000073C9A	NM_183002.2	tolerated(0.12)		2/8		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF7,TIGRFAM_domain:TIGR00845,Superfamily_domains:SSF141072																	MODERATE	1	SNV	1			1										PASS		rs139479097	.												G	3	3	14	70166933	70166933	C	G	1	0	0	0	0	1	0	0	0	14991	623	22	4		4	SLC8A3	14	70166933	Missense_Mutation	SNP	C	C3L-00279_TP	828256	70166933	36876785	482	6557											
SIPA1L1	0	.	GRCh38	chr14	71588040	71588040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttatggctcctgtaggaccCccccgaagtgaaggttctca	8	10	11	12	1	1	1	1	1	1	0	3	3	2	2	4	3	0	4	4	3	4	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.168C>T	p.=	p.P56P	ENST00000555818	2/22	287	256	31	207	207	0	strelka-varscan-mutect	SIPA1L1,synonymous_variant,p.=,ENST00000555818,NM_015556.2,NM_001284247.1;SIPA1L1,synonymous_variant,p.=,ENST00000358550,NM_001284246.1;SIPA1L1,synonymous_variant,p.=,ENST00000381232,NM_001284245.1;SIPA1L1,downstream_gene_variant,,ENST00000557151,;SIPA1L1,downstream_gene_variant,,ENST00000555989,;SIPA1L1,downstream_gene_variant,,ENST00000554362,;SIPA1L1,downstream_gene_variant,,ENST00000555652,;	T	ENST00000555818	Transcript	synonymous_variant	516/7831	168/5415	56/1804	P	ccC/ccT		1		1	SIPA1L1	HGNC	HGNC:20284	protein_coding	YES	CCDS9807.1	ENSP00000450832	O43166		UPI00000443CB	NM_015556.2,NM_001284247.1			2/22		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF10																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	71588040	71588040	C	T	1	0	0	0	0	0	0	0	1	14592	610	22	3		3	SIPA1L1	14	71588040	Silent	SNP	C	C3L-00279_TP	1421107	71588040	35455678	483	6558											
ITPK1	0	.	GRCh38	chr14	92941651	92941651	+	Frame_Shift_Del	DEL	C	C	-																															ttgcagccgagtctctggtgCggcagcttggcggtgccgcc																								rs572318884		C3L-00279_TP	C3L-00279_NB	C	C																c.1155delG	p.His386ThrfsTer72	p.H386Tfs*72	ENST00000267615	11/11	151	129	22	145	145	0	sindel-varindel-pindel	ITPK1,frameshift_variant,p.His386ThrfsTer72,ENST00000267615,;ITPK1,frameshift_variant,p.His386ThrfsTer72,ENST00000556603,NM_001142593.1,NM_014216.4;ITPK1,frameshift_variant,p.His267ThrfsTer72,ENST00000555495,;ITPK1,intron_variant,,ENST00000354313,NM_001142594.1;ITPK1,downstream_gene_variant,,ENST00000556954,;ITPK1,downstream_gene_variant,,ENST00000553695,;	-	ENST00000267615	Transcript	frameshift_variant	1329/6066	1155/1245	385/414	P/X	ccG/cc	rs572318884	1		-1	ITPK1	HGNC	HGNC:6177	protein_coding	YES	CCDS9907.1	ENSP00000267615	Q13572	A0A024R6H3	UPI000006F88A				11/11																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	14	92941651	92941651	C	-	1	0	1	0	1	0	0	0	0	7822	755	27	0		0	ITPK1	14	92941651	Frame_Shift_Del	DEL	C	C3L-00279_TP	21353611	92941651	14102067	484	6559											
UNC79	0	.	GRCh38	chr14	93600771	93600771	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaatttccttttcctacaaGtaagtaaaatgaagaacttg	15	13	7	6	0	0	2	0	1	0	1	2	3	2	3	2	1	2	2	2	1	8	7	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.3043+1G>T		p.X1015_splice	ENST00000256339		151	139	12	49	49	0	strelka-varscan-mutect	UNC79,splice_donor_variant,,ENST00000553484,;UNC79,splice_donor_variant,,ENST00000555664,;UNC79,splice_donor_variant,,ENST00000256339,NM_020818.3;UNC79,splice_donor_variant,,ENST00000393151,;UNC79,splice_donor_variant,,ENST00000621021,;	T	ENST00000256339	Transcript	splice_donor_variant	-/8400	3043/7377	1015/2458				1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3				25/49																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	14	93600771	93600771	G	T	1	0	0	0	0	0	0	1	0	17520	1043	36	2		2	UNC79	14	93600771	Splice_Site	SNP	G	C3L-00279_TP	659120	93600771	13442947	485	6560											
UNC79	0	.	GRCh38	chr14	93621713	93621713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagcattccgaaaaaaaagCtacgctctttcaaacaaaaa	21	7	4	9	2	2	0	1	0	1	0	3	1	3	0	1	0	4	3	1	0	9	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.3949C>A	p.Leu1317Ile	p.L1317I	ENST00000256339	30/50	143	125	18	99	98	1	strelka-varscan-mutect	UNC79,missense_variant,p.Leu1516Ile,ENST00000553484,;UNC79,missense_variant,p.Leu1494Ile,ENST00000555664,;UNC79,missense_variant,p.Leu1317Ile,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Leu1494Ile,ENST00000393151,;UNC79,missense_variant,p.Leu1317Ile,ENST00000621021,;	A	ENST00000256339	Transcript	missense_variant	4604/8400	3949/7377	1317/2458	L/I	Cta/Ata		1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3	deleterious_low_confidence(0.01)		30/50		hmmpanther:PTHR21696:SF2,hmmpanther:PTHR21696																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	14	93621713	93621713	C	A	1	0	0	0	0	1	0	0	0	17520	796	28	2		2	UNC79	14	93621713	Missense_Mutation	SNP	C	C3L-00279_TP	20942	93621713	13422005	486	6561											
SERPINA5	0	.	GRCh38	chr14	94592116	94592116	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagagcagcggcagccacGgggacaatattcactttcag	12	6	11	12	2	2	1	2	0	0	1	2	2	2	2	2	3	3	2	2	3	2	3	rs370278940		C3L-00279_TP	C3L-00279_NB	G	G																c.1098G>T	p.=	p.T366T	ENST00000329597	6/6	186	160	26	190	190	0	strelka-varscan-mutect	SERPINA5,synonymous_variant,p.=,ENST00000329597,NM_000624.5;SERPINA5,synonymous_variant,p.=,ENST00000554866,;SERPINA5,synonymous_variant,p.=,ENST00000554276,;SERPINA5,synonymous_variant,p.=,ENST00000553780,;SERPINA5,downstream_gene_variant,,ENST00000554760,;SERPINA5,downstream_gene_variant,,ENST00000556775,;SERPINA5,downstream_gene_variant,,ENST00000555681,;SERPINA5,downstream_gene_variant,,ENST00000557598,;SERPINA5,downstream_gene_variant,,ENST00000554220,;SERPINA5,downstream_gene_variant,,ENST00000553511,;SERPINA5,downstream_gene_variant,,ENST00000554633,;SERPINA5,downstream_gene_variant,,ENST00000556064,;SERPINA3,synonymous_variant,p.=,ENST00000553947,;SERPINA5,downstream_gene_variant,,ENST00000556730,;	T	ENST00000329597	Transcript	synonymous_variant	1333/2337	1098/1221	366/406	T	acG/acT	rs370278940,COSM3499416	1		1	SERPINA5	HGNC	HGNC:8723	protein_coding	YES	CCDS9928.1	ENSP00000333203	P05154	A0A024R6N9	UPI000013E52C	NM_000624.5			6/6		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF176,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574											0,1						LOW	1	SNV	1		0,1	1										PASS		rs370278940	.												T	2	4	14	94592116	94592116	G	T	1	0	0	0	0	0	0	0	1	14368	1103	39	1		1	SERPINA5	14	94592116	Silent	SNP	G	C3L-00279_TP	970403	94592116	12451602	487	6562											
BDKRB1	0	.	GRCh38	chr14	96263784	96263784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgctccagaagcctgggaCctgctgcacagagtgctgcc	9	7	12	13	0	0	2	0	0	0	2	1	3	1	3	4	1	6	4	4	1	2	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.102C>T	p.=	p.D34D	ENST00000216629	3/3	266	227	39	305	305	0	strelka-varscan-mutect	BDKRB1,synonymous_variant,p.=,ENST00000216629,NM_000710.3;BDKRB1,synonymous_variant,p.=,ENST00000553356,;BDKRB1,synonymous_variant,p.=,ENST00000611804,;RP11-404P21.8,3_prime_UTR_variant,,ENST00000553811,;RP11-404P21.3,intron_variant,,ENST00000553638,;RP11-404P21.8,non_coding_transcript_exon_variant,,ENST00000555847,;BDKRB1,upstream_gene_variant,,ENST00000557122,;	T	ENST00000216629	Transcript	synonymous_variant	708/1687	102/1062	34/353	D	gaC/gaT		1		1	BDKRB1	HGNC	HGNC:1029	protein_coding	YES	CCDS9943.1	ENSP00000216629	P46663		UPI0000000348	NM_000710.3			3/3		hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF28,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00993,PD012188																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	96263784	96263784	C	T	1	0	0	0	0	0	0	0	1	1539	506	18	3		3	BDKRB1	14	96263784	Silent	SNP	C	C3L-00279_TP	1671668	96263784	10779934	488	6563											
ATG2B	0	.	GRCh38	chr14	96306887	96306887	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggtctgaacaacatggctCctgaatttgagatttttcat	11	14	9	7	0	2	3	1	3	1	1	3	5	3	3	1	2	2	1	1	2	3	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.4333G>T	p.Glu1445Ter	p.E1445*	ENST00000359933	30/42	207	181	26	219	219	0	strelka-varscan-mutect	ATG2B,stop_gained,p.Glu1445Ter,ENST00000359933,NM_018036.5;ATG2B,non_coding_transcript_exon_variant,,ENST00000261834,;	A	ENST00000359933	Transcript	stop_gained	5227/13684	4333/6237	1445/2078	E/*	Gag/Tag		1		-1	ATG2B	HGNC	HGNC:20187	protein_coding	YES	CCDS9944.2	ENSP00000353010	Q96BY7		UPI000155D51F	NM_018036.5			30/42		hmmpanther:PTHR13190,hmmpanther:PTHR13190:SF20																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	14	96306887	96306887	C	A	1	0	0	0	0	0	1	0	0	1246	864	30	2		2	ATG2B	14	96306887	Nonsense_Mutation	SNP	C	C3L-00279_TP	43103	96306887	10736831	489	6564											
CYP46A1	0	.	GRCh38	chr14	99691856	99691856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgtcacgagtcctgagtcgGttaaggtaggaggaagagtg	10	9	16	6	3	1	2	1	1	0	1	4	5	2	4	1	4	0	2	1	4	3	2	rs780458125		C3L-00279_TP	C3L-00279_NB	G	G																c.277G>T	p.Val93Phe	p.V93F	ENST00000261835	3/15	265	240	25	215	215	0	strelka-varscan-mutect	CYP46A1,missense_variant,p.Val93Phe,ENST00000261835,NM_006668.1;CYP46A1,5_prime_UTR_variant,,ENST00000380228,;RP11-543C4.3,intron_variant,,ENST00000555875,;CYP46A1,missense_variant,p.Val93Phe,ENST00000554611,;	T	ENST00000261835	Transcript	missense_variant	381/2181	277/1503	93/500	V/F	Gtt/Ttt	rs780458125	1		1	CYP46A1	HGNC	HGNC:2641	protein_coding	YES	CCDS9954.1	ENSP00000261835	Q9Y6A2		UPI00001281DC	NM_006668.1	deleterious(0)		3/15		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24293,hmmpanther:PTHR24293:SF2,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		rs780458125	.												T	3	4	14	99691856	99691856	G	T	1	0	0	0	0	1	0	0	0	3985	1275	44	2		2	CYP46A1	14	99691856	Missense_Mutation	SNP	G	C3L-00279_TP	3384969	99691856	7351862	490	6565											
DYNC1H1	0	.	GRCh38	chr14	102038570	102038570	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacatagacctgtcgccAtcgtttgtcatcttcctgtc	7	13	8	13	2	2	1	1	0	1	1	6	2	3	2	3	1	0	1	3	1	1	3	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.11019A>G	p.=	p.P3673P	ENST00000360184	58/78	480	413	67	442	442	0	strelka-varscan-mutect	DYNC1H1,synonymous_variant,p.=,ENST00000360184,NM_001376.4;DYNC1H1,intron_variant,,ENST00000553423,;RP11-1017G21.4,intron_variant,,ENST00000557551,;RP11-1017G21.4,intron_variant,,ENST00000557242,;RP11-1017G21.4,intron_variant,,ENST00000553701,;DYNC1H1,downstream_gene_variant,,ENST00000556791,;DYNC1H1,upstream_gene_variant,,ENST00000555102,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000555800,;DYNC1H1,upstream_gene_variant,,ENST00000556139,;DYNC1H1,upstream_gene_variant,,ENST00000556499,;	G	ENST00000360184	Transcript	synonymous_variant	11183/14333	11019/13941	3673/4646	P	ccA/ccG		1		1	DYNC1H1	HGNC	HGNC:2961	protein_coding	YES	CCDS9966.1	ENSP00000348965	Q14204		UPI00001B515A	NM_001376.4			58/78		Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF28																	LOW	1	SNV	1			1										PASS		rs1477864954	.												G	2	3	14	102038570	102038570	A	G	1	0	0	0	0	0	0	0	1	4665	204	8	5		5	DYNC1H1	14	102038570	Silent	SNP	A	C3L-00279_TP	2346714	102038570	5005148	491	6566											
C14orf180	0	.	GRCh38	chr14	104587842	104587842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaggacctcgaggcgcGtgtggttccgagaaccccca	8	5	13	15	4	0	2	0	0	0	2	2	5	1	3	5	3	1	1	5	3	1	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.205G>T	p.Val69Leu	p.V69L	ENST00000331952	3/5	129	117	12	112	112	0	strelka-varscan-mutect	C14orf180,missense_variant,p.Val69Leu,ENST00000557649,NM_001008404.2;C14orf180,missense_variant,p.Val69Leu,ENST00000410013,NM_001286400.1;C14orf180,missense_variant,p.Val69Leu,ENST00000331952,NM_001286399.1;TMEM179,intron_variant,,ENST00000415614,;TMEM179,downstream_gene_variant,,ENST00000616017,;TMEM179,downstream_gene_variant,,ENST00000556320,;RP11-614O9.1,downstream_gene_variant,,ENST00000556073,;	T	ENST00000331952	Transcript	missense_variant	461/1455	205/534	69/177	V/L	Gtg/Ttg		1		1	C14orf180	HGNC	HGNC:33795	protein_coding	YES	CCDS66722.1	ENSP00000333041		J3KNP8	UPI00021CF38C	NM_001286399.1	deleterious_low_confidence(0)		3/5		hmmpanther:PTHR36868:SF1,hmmpanther:PTHR36868,Pfam_domain:PF15555																	MODERATE	1	SNV	2			1										PASS		rs1484525910	.												T	3	4	14	104587842	104587842	G	T	1	0	0	0	0	1	0	0	0	1835	1145	40	1		1	C14orf180	14	104587842	Missense_Mutation	SNP	G	C3L-00279_TP	2549272	104587842	2455876	492	6567											
MAGEL2	0	.	GRCh38	chr15	23647738	23647738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagattcttacttagctgcGacatgtccctttgctgacag	8	13	8	12	1	1	2	0	1	1	1	2	3	2	2	2	0	4	2	2	0	2	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.5C>T	p.Ser2Leu	p.S2L	ENST00000532292	1/1	27	21	6	23	23	0	strelka-varscan-mutect	MAGEL2,missense_variant,p.Ser2Leu,ENST00000532292,NM_019066.4;	A	ENST00000532292	Transcript	missense_variant	104/4298	5/3750	2/1249	S/L	tCg/tTg		1		-1	MAGEL2	HGNC	HGNC:6814	protein_coding	YES	CCDS73700.1	ENSP00000433433	Q9UJ55		UPI0001B3CB28	NM_019066.4	deleterious_low_confidence(0)		1/1																			MODERATE	1	SNV				1										PASS		.	.												A	3	1	14	23647738	23647738	G	A	1	0	0	0	0	1	0	0	0	9107	1059	37	1		1	MAGEL2	15	23647738	Missense_Mutation	SNP	G	C3L-00279_TP		23647738	78343451	493	6568											
AQR	0	.	GRCh38	chr15	34904376	34904376	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttctcctcattattataTtaaaagtttcatacacatcc	12	18	2	9	0	3	0	2	0	1	0	5	0	4	0	2	0	1	2	2	0	6	8	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.1961A>T	p.Asn654Ile	p.N654I	ENST00000156471	19/35	102	91	11	38	38	0	strelka-varscan-mutect	AQR,missense_variant,p.Asn654Ile,ENST00000156471,NM_014691.2;AQR,3_prime_UTR_variant,,ENST00000543879,;	A	ENST00000156471	Transcript	missense_variant	2187/9694	1961/4458	654/1485	N/I	aAt/aTt		1		-1	AQR	HGNC	HGNC:29513	protein_coding	YES	CCDS42013.1	ENSP00000156471	O60306	A0A024R9L1	UPI00001C1F85	NM_014691.2	deleterious(0)		19/35		hmmpanther:PTHR10887:SF5,hmmpanther:PTHR10887,Pfam_domain:PF16399,PIRSF_domain:PIRSF038901																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	34904376	34904376	T	A	1	0	0	0	0	1	0	0	0	957	1493	52	4		4	AQR	15	34904376	Missense_Mutation	SNP	T	C3L-00279_TP	11256638	34904376	67086813	494	6569											
SLTM	0	.	GRCh38	chr15	58887290	58887290	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgggtctggaaggatTgggccctgcctctcgaggat	5	10	17	9	1	2	0	0	0	2	0	3	4	2	3	2	6	1	1	2	6	1	1	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.2626A>T	p.Asn876Tyr	p.N876Y	ENST00000380516	18/21	234	196	38	226	226	0	strelka-varscan-mutect	SLTM,missense_variant,p.Asn876Tyr,ENST00000380516,NM_024755.2,NM_001013843.1;SLTM,missense_variant,p.Asn442Tyr,ENST00000432750,;RNF111,intron_variant,,ENST00000559757,;SLTM,upstream_gene_variant,,ENST00000560494,;SLTM,downstream_gene_variant,,ENST00000557791,;AC025918.2,upstream_gene_variant,,ENST00000452467,;SLTM,3_prime_UTR_variant,,ENST00000492526,;SLTM,3_prime_UTR_variant,,ENST00000557924,;SLTM,non_coding_transcript_exon_variant,,ENST00000558052,;SLTM,upstream_gene_variant,,ENST00000493062,;SLTM,downstream_gene_variant,,ENST00000560695,;SLTM,downstream_gene_variant,,ENST00000558734,;	A	ENST00000380516	Transcript	missense_variant	2714/4147	2626/3105	876/1034	N/Y	Aat/Tat		1		-1	SLTM	HGNC	HGNC:20709	protein_coding	YES	CCDS10168.2	ENSP00000369887	Q9NWH9		UPI0000039EA4	NM_024755.2,NM_001013843.1	deleterious(0.05)		18/21		hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	58887290	58887290	T	A	1	0	0	0	0	1	0	0	0	15043	1812	63	4		4	SLTM	15	58887290	Missense_Mutation	SNP	T	C3L-00279_TP	23982914	58887290	43103899	495	6570											
RNF111	0	.	GRCh38	chr15	59094886	59094886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggacattgaggcccagctgCcaagtgaaagttgacaccat	12	8	11	10	0	0	3	0	3	0	0	0	4	0	4	3	2	2	2	3	2	2	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2974C>T	p.Pro992Ser	p.P992S	ENST00000559209	14/14	333	287	46	353	353	0	strelka-varscan-mutect	RNF111,missense_variant,p.Pro983Ser,ENST00000348370,NM_001270529.1,NM_017610.7;RNF111,missense_variant,p.Pro992Ser,ENST00000559209,NM_001270528.1;RNF111,missense_variant,p.Pro991Ser,ENST00000557998,NM_001270530.1;RNF111,missense_variant,p.Pro1000Ser,ENST00000561186,;RNF111,non_coding_transcript_exon_variant,,ENST00000560080,;RNF111,non_coding_transcript_exon_variant,,ENST00000560952,;RNF111,downstream_gene_variant,,ENST00000560216,;	T	ENST00000559209	Transcript	missense_variant	3110/5278	2974/2988	992/995	P/S	Cca/Tca		1		1	RNF111	HGNC	HGNC:17384	protein_coding	YES	CCDS58365.1	ENSP00000453872	Q6ZNA4		UPI0000EE4EBD	NM_001270528.1	tolerated(1)		14/14		hmmpanther:PTHR22763:SF15,hmmpanther:PTHR22763																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	59094886	59094886	C	T	1	0	0	0	0	1	0	0	0	13603	739	26	3		3	RNF111	15	59094886	Missense_Mutation	SNP	C	C3L-00279_TP	207596	59094886	42896303	496	6571											
MYO9A	0	.	GRCh38	chr15	71899958	71899958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaagcatccttctgcaCagctgcatctctgacttgct	11	11	6	13	0	2	1	0	1	2	0	4	1	3	1	1	0	6	5	1	0	3	2	rs74687859		C3L-00279_TP	C3L-00279_NB	C	C																c.3199G>T	p.Val1067Leu	p.V1067L	ENST00000356056	24/42	180	155	25	186	186	0	strelka-varscan-mutect	MYO9A,missense_variant,p.Val1067Leu,ENST00000356056,NM_006901.3;MYO9A,missense_variant,p.Val1067Leu,ENST00000564571,;MYO9A,missense_variant,p.Val1067Leu,ENST00000444904,;MYO9A,missense_variant,p.Val687Leu,ENST00000566885,;MYO9A,upstream_gene_variant,,ENST00000561618,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563542,;MYO9A,downstream_gene_variant,,ENST00000566744,;MYO9A,upstream_gene_variant,,ENST00000568781,;	A	ENST00000356056	Transcript	missense_variant	3672/12411	3199/7647	1067/2548	V/L	Gtg/Ttg	rs74687859	1		-1	MYO9A	HGNC	HGNC:7608	protein_coding	YES	CCDS10239.1	ENSP00000348349	B2RTY4		UPI000013D213	NM_006901.3	tolerated(0.54)		24/42		PROSITE_profiles:PS50096,hmmpanther:PTHR13140:SF9,hmmpanther:PTHR13140,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs74687859	.												A	3	1	14	71899958	71899958	C	A	1	0	0	0	0	1	0	0	0	10085	478	17	2		2	MYO9A	15	71899958	Missense_Mutation	SNP	C	C3L-00279_TP	12805072	71899958	30091231	497	6572											
HCN4	0	.	GRCh38	chr15	73322661	73322661	+	Frame_Shift_Del	DEL	G	G	-																															gtgacgtgctggccggggatGgcaccatagggcctcccagg																								novel		C3L-00279_TP	C3L-00279_NB	G	G																c.3432delC	p.Ile1145SerfsTer36	p.I1145Sfs*36	ENST00000261917	8/8	225	181	44	304	304	0	sindel-varindel-pindel	HCN4,frameshift_variant,p.Ile1145SerfsTer36,ENST00000261917,NM_005477.2;	-	ENST00000261917	Transcript	frameshift_variant	4426/7228	3432/3612	1144/1203	A/X	gcC/gc		1		-1	HCN4	HGNC	HGNC:16882	protein_coding	YES	CCDS10248.1	ENSP00000261917	Q9Y3Q4		UPI000003FFB5	NM_005477.2			8/8																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	14	73322661	73322661	G	-	1	0	1	0	1	0	0	0	0	6886	1335	47	0		0	HCN4	15	73322661	Frame_Shift_Del	DEL	G	C3L-00279_TP	1422703	73322661	28668528	498	6573											
ISLR	0	.	GRCh38	chr15	74175367	74175367	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcaccttcaccccgctcaCcgcgctgtcccacctgcaga	6	6	9	20	3	2	1	2	0	0	1	3	1	3	1	6	1	1	4	6	1	0	1	rs780036106		C3L-00279_TP	C3L-00279_NB	C	C																c.509C>A	p.Thr170Asn	p.T170N	ENST00000249842	2/2	128	108	20	114	114	0	strelka-varscan-mutect	ISLR,missense_variant,p.Thr170Asn,ENST00000249842,NM_005545.3;ISLR,missense_variant,p.Thr170Asn,ENST00000395118,NM_201526.1;ISLR,missense_variant,p.Thr170Asn,ENST00000560862,;STRA6,downstream_gene_variant,,ENST00000323940,NM_001142617.1;STRA6,downstream_gene_variant,,ENST00000616000,NM_001142618.1;STRA6,downstream_gene_variant,,ENST00000395105,NM_022369.3;STRA6,downstream_gene_variant,,ENST00000423167,NM_001142619.1;STRA6,downstream_gene_variant,,ENST00000416286,;STRA6,downstream_gene_variant,,ENST00000449139,;STRA6,downstream_gene_variant,,ENST00000535552,NM_001199040.1;STRA6,downstream_gene_variant,,ENST00000563965,NM_001199042.1;STRA6,downstream_gene_variant,,ENST00000574278,NM_001199041.1;STRA6,downstream_gene_variant,,ENST00000572785,;ISLR,downstream_gene_variant,,ENST00000559510,;RP11-665J16.1,intron_variant,,ENST00000561647,;STRA6,downstream_gene_variant,,ENST00000574439,;STRA6,downstream_gene_variant,,ENST00000545137,;	A	ENST00000249842	Transcript	missense_variant	866/2371	509/1287	170/428	T/N	aCc/aAc	rs780036106,COSM555976	1		1	ISLR	HGNC	HGNC:6133	protein_coding	YES	CCDS10260.1	ENSP00000249842	O14498	A0A146E5L3	UPI0000049E09	NM_005545.3	tolerated(0.26)		2/2		hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF14,Pfam_domain:PF13855,Gene3D:3.80.10.10,Superfamily_domains:SSF52058											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs780036106	.												A	3	1	14	74175367	74175367	C	A	1	0	0	0	0	1	0	0	0	7765	507	18	2		2	ISLR	15	74175367	Missense_Mutation	SNP	C	C3L-00279_TP	852706	74175367	27815822	499	6574											
MFGE8	0	.	GRCh38	chr15	88899692	88899692	+	Missense_Mutation	SNP	C	C	A																															ctggggtcctggtactcagtCcagttcgcactgtcattact																								novel		C3L-00279_TP	C3L-00279_NB	C	C																c.990G>T	p.Trp330Cys	p.W330C	ENST00000268150	7/8	374	323	51	333	333	0	strelka-varscan-mutect	MFGE8,missense_variant,p.Trp330Cys,ENST00000268150,NM_005928.2;MFGE8,missense_variant,p.Trp330Cys,ENST00000566497,;MFGE8,missense_variant,p.Trp286Cys,ENST00000542878,;MFGE8,intron_variant,,ENST00000268151,NM_001114614.1;HAPLN3,upstream_gene_variant,,ENST00000359595,NM_178232.2;HAPLN3,upstream_gene_variant,,ENST00000562889,NM_001307952.1;MFGE8,downstream_gene_variant,,ENST00000558029,;HAPLN3,upstream_gene_variant,,ENST00000562281,;MFGE8,downstream_gene_variant,,ENST00000617199,;MFGE8,downstream_gene_variant,,ENST00000560553,;MFGE8,3_prime_UTR_variant,,ENST00000558018,NM_001310320.1;MFGE8,non_coding_transcript_exon_variant,,ENST00000560937,;HAPLN3,upstream_gene_variant,,ENST00000558770,;HAPLN3,upstream_gene_variant,,ENST00000563808,;MFGE8,downstream_gene_variant,,ENST00000613965,;	A	ENST00000268150	Transcript	missense_variant	1082/1937	990/1164	330/387	W/C	tgG/tgT		1		-1	MFGE8	HGNC	HGNC:7036	protein_coding	YES	CCDS10347.1	ENSP00000268150	Q08431		UPI000013D7A3	NM_005928.2	deleterious(0)		7/8		PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF303,hmmpanther:PTHR10127,Pfam_domain:PF00754,Gene3D:2.60.120.260,SMART_domains:SM00231,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	88899692	88899692	C	A	1	0	0	0	0	1	0	0	0	9473	856	30	2		2	MFGE8	15	88899692	Missense_Mutation	SNP	C	C3L-00279_TP	14724325	88899692	13091497	500	6575	153	2									
MFGE8	0	.	GRCh38	chr15	88899693	88899693	+	Missense_Mutation	SNP	C	C	G																															tggggtcctggtactcagtcCagttcgcactgtcattactg																								novel		C3L-00279_TP	C3L-00279_NB	C	C																c.989G>C	p.Trp330Ser	p.W330S	ENST00000268150	7/8	379	324	55	335	334	1	strelka-varscan-mutect	MFGE8,missense_variant,p.Trp330Ser,ENST00000268150,NM_005928.2;MFGE8,missense_variant,p.Trp330Ser,ENST00000566497,;MFGE8,missense_variant,p.Trp286Ser,ENST00000542878,;MFGE8,intron_variant,,ENST00000268151,NM_001114614.1;HAPLN3,upstream_gene_variant,,ENST00000359595,NM_178232.2;HAPLN3,upstream_gene_variant,,ENST00000562889,NM_001307952.1;MFGE8,downstream_gene_variant,,ENST00000558029,;HAPLN3,upstream_gene_variant,,ENST00000562281,;MFGE8,downstream_gene_variant,,ENST00000617199,;MFGE8,downstream_gene_variant,,ENST00000560553,;MFGE8,3_prime_UTR_variant,,ENST00000558018,NM_001310320.1;MFGE8,non_coding_transcript_exon_variant,,ENST00000560937,;HAPLN3,upstream_gene_variant,,ENST00000558770,;HAPLN3,upstream_gene_variant,,ENST00000563808,;MFGE8,downstream_gene_variant,,ENST00000613965,;	G	ENST00000268150	Transcript	missense_variant	1081/1937	989/1164	330/387	W/S	tGg/tCg		1		-1	MFGE8	HGNC	HGNC:7036	protein_coding	YES	CCDS10347.1	ENSP00000268150	Q08431		UPI000013D7A3	NM_005928.2	deleterious(0)		7/8		PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF303,hmmpanther:PTHR10127,Pfam_domain:PF00754,Gene3D:2.60.120.260,SMART_domains:SM00231,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	88899693	88899693	C	G	1	0	0	0	0	1	0	0	0	9473	595	21	4		4	MFGE8	15	88899693	Missense_Mutation	SNP	C	C3L-00279_TP	1	88899693	13091496	501	6576	153	2									
IGF1R	0	.	GRCh38	chr15	98908823	98908823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttccgaaatttaccgcatGgaggaagtgacggggactaa	12	9	13	7	3	0	1	0	1	0	0	1	5	1	4	2	4	1	2	2	4	4	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1386G>T	p.Met462Ile	p.M462I	ENST00000268035	6/21	657	578	79	624	621	3	strelka-varscan-mutect	IGF1R,missense_variant,p.Met462Ile,ENST00000268035,NM_000875.4;IGF1R,missense_variant,p.Met462Ile,ENST00000558762,NM_001291858.1;IGF1R,missense_variant,p.Met159Ile,ENST00000558898,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559582,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;IGF1R,upstream_gene_variant,,ENST00000560144,;	T	ENST00000268035	Transcript	missense_variant	1997/11803	1386/4104	462/1367	M/I	atG/atT		1		1	IGF1R	HGNC	HGNC:5465	protein_coding	YES	CCDS10378.1	ENSP00000268035	P08069		UPI000012D3EA	NM_000875.4	deleterious(0.01)		6/21		hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000620,Gene3D:3.80.20.20,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	98908823	98908823	G	T	1	0	0	0	0	1	0	0	0	7477	1348	47	2		2	IGF1R	15	98908823	Missense_Mutation	SNP	G	C3L-00279_TP	10009130	98908823	3082366	502	6577											
DECR2	0	.	GRCh38	chr16	410277	410277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgccccgctggcgcCttgtccttcaacgccttcaa	4	12	8	17	3	2	0	2	0	0	0	4	0	4	0	6	1	2	1	6	1	2	4	rs765659217		C3L-00279_TP	C3L-00279_NB	C	C																c.372C>T	p.=	p.A124A	ENST00000219481	5/9	273	238	35	287	287	0	strelka-varscan-mutect	DECR2,synonymous_variant,p.=,ENST00000219481,NM_020664.3;DECR2,synonymous_variant,p.=,ENST00000424398,;DECR2,synonymous_variant,p.=,ENST00000633348,;DECR2,synonymous_variant,p.=,ENST00000633923,;DECR2,downstream_gene_variant,,ENST00000627716,;DECR2,non_coding_transcript_exon_variant,,ENST00000461947,;DECR2,downstream_gene_variant,,ENST00000461802,;DECR2,downstream_gene_variant,,ENST00000632744,;DECR2,missense_variant,p.Leu187Phe,ENST00000439661,;DECR2,synonymous_variant,p.=,ENST00000429116,;DECR2,3_prime_UTR_variant,,ENST00000437024,;NME4,3_prime_UTR_variant,,ENST00000444498,;DECR2,3_prime_UTR_variant,,ENST00000445291,;DECR2,non_coding_transcript_exon_variant,,ENST00000461749,;DECR2,non_coding_transcript_exon_variant,,ENST00000465166,;DECR2,non_coding_transcript_exon_variant,,ENST00000469922,;DECR2,downstream_gene_variant,,ENST00000633025,;DECR2,downstream_gene_variant,,ENST00000631605,;	T	ENST00000219481	Transcript	synonymous_variant	510/1615	372/879	124/292	A	gcC/gcT	rs765659217	1		1	DECR2	HGNC	HGNC:2754	protein_coding	YES	CCDS10409.1	ENSP00000219481	Q9NUI1		UPI000003BBDC	NM_020664.3			5/9		hmmpanther:PTHR24322:SF539,hmmpanther:PTHR24322,Pfam_domain:PF13561,Gene3D:3.40.50.720,SMART_domains:SM00822,Superfamily_domains:SSF51735																	LOW	1	SNV	1			1										PASS		rs765659217	.												T	2	4	14	410277	410277	C	T	1	0	0	0	0	0	0	0	1	4186	668	24	3		3	DECR2	16	410277	Silent	SNP	C	C3L-00279_TP		410277	89928068	503	6578											
RPL3L	0	.	GRCh38	chr16	1954097	1954097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccggtggctcctcttatGgggcaggaagcccaggtgtc	5	9	16	11	1	1	0	0	0	1	0	3	1	2	1	3	6	2	2	3	6	2	1			C3L-00279_TP	C3L-00279_NB	G	G																c.55C>A	p.His19Asn	p.H19N	ENST00000268661	2/10	78	70	8	60	60	0	strelka-varscan-mutect	RPL3L,missense_variant,p.His19Asn,ENST00000268661,NM_005061.2;RPL3L,5_prime_UTR_variant,,ENST00000565426,;RPL3L,downstream_gene_variant,,ENST00000566484,;	T	ENST00000268661	Transcript	missense_variant	150/2182	55/1224	19/407	H/N	Cat/Aat	COSM3506831	1		-1	RPL3L	HGNC	HGNC:10351	protein_coding	YES	CCDS10450.1	ENSP00000268661	Q92901		UPI0000161C28	NM_005061.2	deleterious(0)		2/10		hmmpanther:PTHR11363,hmmpanther:PTHR11363:SF7,Pfam_domain:PF00297,Superfamily_domains:SSF50447											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	14	1954097	1954097	G	T	1	0	0	0	0	1	0	0	0	13847	1348	47	2		2	RPL3L	16	1954097	Missense_Mutation	SNP	G	C3L-00279_TP	1543820	1954097	88384248	504	6579											
NTN3	0	.	GRCh38	chr16	2473286	2473286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagacccctatccctggacCcactgaggacagcagccctg	10	5	10	16	0	0	2	0	1	0	1	1	5	1	4	5	2	2	1	5	2	1	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1286C>A	p.Pro429His	p.P429H	ENST00000293973	4/6	195	167	28	158	158	0	strelka-mutect	NTN3,missense_variant,p.Pro429His,ENST00000293973,NM_006181.2;TBC1D24,upstream_gene_variant,,ENST00000567020,NM_020705.2;TBC1D24,upstream_gene_variant,,ENST00000293970,NM_001199107.1;RP11-715J22.6,upstream_gene_variant,,ENST00000561847,;TBC1D24,upstream_gene_variant,,ENST00000630263,;TBC1D24,upstream_gene_variant,,ENST00000569874,;	A	ENST00000293973	Transcript	missense_variant	1489/1986	1286/1743	429/580	P/H	cCc/cAc		1		1	NTN3	HGNC	HGNC:8030	protein_coding	YES	CCDS10469.1	ENSP00000293973	O00634		UPI000006ED30	NM_006181.2	deleterious(0.01)		4/6		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF292																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	2473286	2473286	C	A	1	0	0	0	0	1	0	0	0	10766	623	22	2		2	NTN3	16	2473286	Missense_Mutation	SNP	C	C3L-00279_TP	519189	2473286	87865059	505	6580											
GRIN2A	0	.	GRCh38	chr16	9763508	9763508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgtcctccagaccttGggggaaaagggagctttttt	7	13	12	9	0	0	1	0	0	0	1	2	3	2	3	3	3	2	2	3	3	2	5	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.4036C>A	p.Gln1346Lys	p.Q1346K	ENST00000396573	14/14	342	315	27	279	279	0	strelka-varscan-mutect	GRIN2A,missense_variant,p.Gln1346Lys,ENST00000396573,NM_000833.4;GRIN2A,missense_variant,p.Gln1209Lys,ENST00000396575,;GRIN2A,missense_variant,p.Gln1346Lys,ENST00000330684,NM_001134407.2;GRIN2A,intron_variant,,ENST00000562109,NM_001134408.2;GRIN2A,intron_variant,,ENST00000535259,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000636273,;GRIN2A,intron_variant,,ENST00000461292,;GRIN2A,downstream_gene_variant,,ENST00000463531,;	T	ENST00000396573	Transcript	missense_variant	4346/14450	4036/4395	1346/1464	Q/K	Caa/Aaa		1		-1	GRIN2A	HGNC	HGNC:4585	protein_coding	YES	CCDS10539.1	ENSP00000379818	Q12879	Q547U9	UPI000000D7AB	NM_000833.4	tolerated(0.92)		14/14		Pfam_domain:PF10565																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	9763508	9763508	G	T	1	0	0	0	0	1	0	0	0	6661	1357	47	2		2	GRIN2A	16	9763508	Missense_Mutation	SNP	G	C3L-00279_TP	7290222	9763508	80574837	506	6581											
NOMO2	0	.	GRCh38	chr16	18531491	18531491	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagactttcccagaaacTgatgccaagaactgtacaaa	17	7	7	10	0	0	4	0	1	0	3	1	5	1	4	2	0	4	1	2	0	6	2	rs143309872		C3L-00279_TP	C3L-00279_NB	T	T																c.1512A>T	p.=	p.S504S	ENST00000621364	13/32	393	363	30	288	288	0	varscan-mutect	NOMO2,synonymous_variant,p.=,ENST00000330537,;NOMO2,synonymous_variant,p.=,ENST00000622306,NM_173614.2;NOMO2,synonymous_variant,p.=,ENST00000621364,NM_001004060.1;NOMO2,synonymous_variant,p.=,ENST00000381474,;NOMO2,synonymous_variant,p.=,ENST00000543392,;NOMO2,synonymous_variant,p.=,ENST00000569051,;NOMO2,3_prime_UTR_variant,,ENST00000564991,;NOMO2,upstream_gene_variant,,ENST00000567831,;RP11-457I16.4,upstream_gene_variant,,ENST00000575091,;	A	ENST00000621364	Transcript	synonymous_variant	1584/3921	1512/3804	504/1267	S	tcA/tcT	rs143309872	1		-1	NOMO2	HGNC	HGNC:22652	protein_coding	YES	CCDS32394.1	ENSP00000477502	Q5JPE7		UPI00001AFC79	NM_001004060.1			13/32		hmmpanther:PTHR23303																	LOW	1	SNV	1			1										PASS		rs143309872	.												A	2	1	14	18531491	18531491	T	A	1	0	0	0	0	0	0	0	1	10576	1567	55	4		4	NOMO2	16	18531491	Silent	SNP	T	C3L-00279_TP	8767983	18531491	71806854	507	6582											
GPRC5B	0	.	GRCh38	chr16	19872504	19872504	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtctcgtcctcctggatGatgaaggcaaacgtcagccc	9	9	11	12	2	2	2	1	2	1	0	5	3	4	3	3	3	2	1	3	3	2	0			C3L-00279_TP	C3L-00279_NB	G	G																c.342C>T	p.=	p.I114I	ENST00000300571	2/4	244	213	31	197	197	0	strelka-varscan-mutect	GPRC5B,synonymous_variant,p.=,ENST00000300571,NM_016235.2;GPRC5B,synonymous_variant,p.=,ENST00000569479,;GPRC5B,synonymous_variant,p.=,ENST00000569847,;GPRC5B,synonymous_variant,p.=,ENST00000535671,;GPRC5B,synonymous_variant,p.=,ENST00000562469,;GPRC5B,synonymous_variant,p.=,ENST00000566822,;GPRC5B,downstream_gene_variant,,ENST00000564449,;GPRC5B,downstream_gene_variant,,ENST00000568214,;GPRC5B,downstream_gene_variant,,ENST00000570142,;	A	ENST00000300571	Transcript	synonymous_variant	534/5213	342/1212	114/403	I	atC/atT	COSM3969426	1		-1	GPRC5B	HGNC	HGNC:13308	protein_coding	YES	CCDS10581.1	ENSP00000300571	Q9NZH0	A0A024QYX2	UPI0000032747	NM_016235.2			2/4		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR14511,hmmpanther:PTHR14511:SF9,Pfam_domain:PF00003											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	14	19872504	19872504	G	A	1	0	0	0	0	0	0	0	1	6604	1280	45	3		3	GPRC5B	16	19872504	Silent	SNP	G	C3L-00279_TP	1341013	19872504	70465841	508	6583											
UMOD	0	.	GRCh38	chr16	20341187	20341187	+	Frame_Shift_Del	DEL	C	C	-																															gtgcaaatcgggacaggtcgCccccatccaacatggtgccc																								novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1580delG	p.Gly527AlafsTer10	p.G527Afs*10	ENST00000396134	8/12	448	416	32	421	421	0	sindel-varindel-pindel	UMOD,frameshift_variant,p.Gly494AlafsTer10,ENST00000302509,NM_001008389.2,NM_003361.3;UMOD,frameshift_variant,p.Gly527AlafsTer10,ENST00000396134,NM_001278614.1;UMOD,frameshift_variant,p.Gly543AlafsTer10,ENST00000396138,;UMOD,frameshift_variant,p.Gly494AlafsTer10,ENST00000570689,;UMOD,non_coding_transcript_exon_variant,,ENST00000570331,;	-	ENST00000396134	Transcript	frameshift_variant	1704/2408	1580/2022	527/673	G/X	gGc/gc		1		-1	UMOD	HGNC	HGNC:12559	protein_coding	YES	CCDS61876.1	ENSP00000379438	P07911		UPI000059D336	NM_001278614.1			8/12		PROSITE_profiles:PS51034,hmmpanther:PTHR24044:SF263,hmmpanther:PTHR24044,PROSITE_patterns:PS00682,Pfam_domain:PF00100,SMART_domains:SM00241																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	14	20341187	20341187	C	-	1	0	1	0	1	0	0	0	0	17503	739	26	0		0	UMOD	16	20341187	Frame_Shift_Del	DEL	C	C3L-00279_TP	468683	20341187	69997158	509	6584											
GTF3C1	0	.	GRCh38	chr16	27497688	27497688	+	Frame_Shift_Del	DEL	T	T	-																															tatgcccattttattatcacTttttttcatccgtccacttt																										C3L-00279_TP	C3L-00279_NB	T	T																c.2299delA	p.Ser767ValfsTer7	p.S767Vfs*7	ENST00000356183	14/37	142	119	23	95	95	0	sindel-pindel	GTF3C1,frameshift_variant,p.Ser767ValfsTer7,ENST00000356183,NM_001520.3;GTF3C1,frameshift_variant,p.Ser767ValfsTer7,ENST00000561623,NM_001286242.1;GTF3C1,intron_variant,,ENST00000569653,;	-	ENST00000356183	Transcript	frameshift_variant	2315/7018	2299/6330	767/2109	S/X	Agt/gt	COSM1180827	1		-1	GTF3C1	HGNC	HGNC:4664	protein_coding	YES	CCDS32414.1	ENSP00000348510	Q12789		UPI00001FF123	NM_001520.3			14/37		hmmpanther:PTHR15180,hmmpanther:PTHR15180:SF1											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	14	27497688	27497688	T	-	1	0	1	0	1	0	0	0	0	6753	1609	56	0		0	GTF3C1	16	27497688	Frame_Shift_Del	DEL	T	C3L-00279_TP	7156501	27497688	62840657	510	6585											
APOBR	0	.	GRCh38	chr16	28495582	28495582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagctgggaacaggaggagGaggaggaagaggtcagggca	14	2	21	4	0	1	1	1	0	0	1	1	8	1	7	0	8	2	2	0	8	3	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.541G>A	p.Glu181Lys	p.E181K	ENST00000564831	2/4	142	117	25	121	121	0	strelka-varscan-mutect	APOBR,missense_variant,p.Glu181Lys,ENST00000564831,NM_018690.3;APOBR,missense_variant,p.Glu181Lys,ENST00000431282,;CLN3,upstream_gene_variant,,ENST00000569430,;CLN3,upstream_gene_variant,,ENST00000636147,NM_001042432.1;CLN3,upstream_gene_variant,,ENST00000359984,NM_000086.2;CLN3,upstream_gene_variant,,ENST00000360019,NM_001286104.1;CLN3,upstream_gene_variant,,ENST00000357857,NM_001286110.1;CLN3,upstream_gene_variant,,ENST00000333496,;CLN3,upstream_gene_variant,,ENST00000631023,;CLN3,upstream_gene_variant,,ENST00000357806,;CLN3,upstream_gene_variant,,ENST00000567963,NM_001286109.1;CLN3,upstream_gene_variant,,ENST00000395653,;CLN3,upstream_gene_variant,,ENST00000565316,;CLN3,upstream_gene_variant,,ENST00000637100,;CLN3,upstream_gene_variant,,ENST00000636228,;CLN3,upstream_gene_variant,,ENST00000355477,;CLN3,upstream_gene_variant,,ENST00000635973,;IL27,downstream_gene_variant,,ENST00000356897,NM_145659.3;CLN3,upstream_gene_variant,,ENST00000568443,;CLN3,upstream_gene_variant,,ENST00000568497,;CLN3,upstream_gene_variant,,ENST00000565778,;CLN3,upstream_gene_variant,,ENST00000565688,;CLN3,upstream_gene_variant,,ENST00000568558,;CLN3,upstream_gene_variant,,ENST00000567804,;CLN3,upstream_gene_variant,,ENST00000636355,;CLN3,upstream_gene_variant,,ENST00000567160,;CLN3,upstream_gene_variant,,ENST00000565236,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000637110,;CLN3,upstream_gene_variant,,ENST00000566472,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000637686,;CLN3,upstream_gene_variant,,ENST00000565047,;CLN3,upstream_gene_variant,,ENST00000563874,;CLN3,upstream_gene_variant,,ENST00000636977,;RP11-435I10.4,upstream_gene_variant,,ENST00000635887,;RP11-435I10.4,upstream_gene_variant,,ENST00000636503,;RP11-435I10.4,upstream_gene_variant,,ENST00000637376,;RP11-435I10.4,upstream_gene_variant,,ENST00000636866,;RP11-435I10.4,upstream_gene_variant,,ENST00000636078,;CLN3,upstream_gene_variant,,ENST00000636853,;RP11-435I10.4,upstream_gene_variant,,ENST00000636017,;RP11-435I10.4,upstream_gene_variant,,ENST00000636766,;CLN3,upstream_gene_variant,,ENST00000636839,;CLN3,upstream_gene_variant,,ENST00000568076,;CLN3,upstream_gene_variant,,ENST00000561689,;RP11-435I10.4,upstream_gene_variant,,ENST00000637299,;CLN3,upstream_gene_variant,,ENST00000637107,;CLN3,upstream_gene_variant,,ENST00000635958,;CLN3,upstream_gene_variant,,ENST00000637184,;RP11-435I10.4,upstream_gene_variant,,ENST00000568224,;CLN3,upstream_gene_variant,,ENST00000568452,;CLN3,upstream_gene_variant,,ENST00000637871,;CLN3,upstream_gene_variant,,ENST00000637578,;CLN3,upstream_gene_variant,,ENST00000636172,;CLN3,upstream_gene_variant,,ENST00000566083,;CLN3,upstream_gene_variant,,ENST00000635861,;CLN3,upstream_gene_variant,,ENST00000566824,;CLN3,upstream_gene_variant,,ENST00000637699,;CLN3,upstream_gene_variant,,ENST00000565140,;CLN3,upstream_gene_variant,,ENST00000628023,;CLN3,upstream_gene_variant,,ENST00000568422,;CLN3,upstream_gene_variant,,ENST00000564574,;CLN3,upstream_gene_variant,,ENST00000569030,;CLN3,upstream_gene_variant,,ENST00000568472,;CLN3,upstream_gene_variant,,ENST00000566057,;CLN3,upstream_gene_variant,,ENST00000567495,;CLN3,upstream_gene_variant,,ENST00000637985,;CLN3,upstream_gene_variant,,ENST00000561505,;	A	ENST00000564831	Transcript	missense_variant	574/3792	541/3294	181/1097	E/K	Gag/Aag		1		1	APOBR	HGNC	HGNC:24087	protein_coding	YES	CCDS58442.1	ENSP00000457539	Q0VD83		UPI000013EFFC	NM_018690.3	deleterious(0.02)		2/4		Low_complexity_(Seg):seg,hmmpanther:PTHR15964:SF0,hmmpanther:PTHR15964																	MODERATE	1	SNV	1			1										PASS		rs1186553609	.												A	3	1	14	28495582	28495582	G	A	1	0	0	0	0	1	0	0	0	918	1175	41	3		3	APOBR	16	28495582	Missense_Mutation	SNP	G	C3L-00279_TP	997894	28495582	61842763	511	6586											
SRCAP	0	.	GRCh38	chr16	30737307	30737307	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccatcaaactcgcagcAccaccacaccaccccgctgc	10	3	5	23	3	1	0	1	0	0	0	2	0	1	0	7	0	3	3	7	0	1	0	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.7267A>T	p.Thr2423Ser	p.T2423S	ENST00000262518	34/34	422	348	74	429	429	0	strelka-varscan-mutect	SRCAP,missense_variant,p.Thr2423Ser,ENST00000262518,NM_006662.2;SRCAP,missense_variant,p.Thr2164Ser,ENST00000395059,;TMEM265,upstream_gene_variant,,ENST00000615541,NM_001256829.1;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;RP11-2C24.9,missense_variant,p.Thr2246Ser,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,;	T	ENST00000262518	Transcript	missense_variant	7652/11754	7267/9693	2423/3230	T/S	Acc/Tcc		1		1	SRCAP	HGNC	HGNC:16974	protein_coding	YES	CCDS10689.2	ENSP00000262518	Q6ZRS2		UPI000059D368	NM_006662.2	tolerated_low_confidence(0.16)		34/34		Low_complexity_(Seg):seg																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	14	30737307	30737307	A	T	1	0	0	0	0	1	0	0	0	15493	159	6	4		4	SRCAP	16	30737307	Missense_Mutation	SNP	A	C3L-00279_TP	2241725	30737307	59601038	512	6587											
RNF40	0	.	GRCh38	chr16	30766772	30766772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgcagaagaagctacGcacagaggtcattcagctgg	11	6	15	9	1	2	3	2	0	0	3	2	3	2	3	0	4	4	5	0	4	3	2	rs146102570		C3L-00279_TP	C3L-00279_NB	G	G																c.1325G>T	p.Arg442Leu	p.R442L	ENST00000324685	11/20	256	228	28	205	205	0	strelka-varscan-mutect	RNF40,missense_variant,p.Arg442Leu,ENST00000324685,NM_014771.3,NM_001207033.1,NM_001286572.2;RNF40,missense_variant,p.Arg402Leu,ENST00000563683,;RNF40,missense_variant,p.Arg342Leu,ENST00000357890,NM_001207034.1;CCDC189,upstream_gene_variant,,ENST00000543610,NM_001014979.2;CCDC189,upstream_gene_variant,,ENST00000541260,;CCDC189,upstream_gene_variant,,ENST00000545825,NM_001195620.1;RNF40,downstream_gene_variant,,ENST00000563909,;RNF40,upstream_gene_variant,,ENST00000567365,;RNF40,downstream_gene_variant,,ENST00000565995,;RNF40,downstream_gene_variant,,ENST00000566811,;RNF40,downstream_gene_variant,,ENST00000565931,;RNF40,non_coding_transcript_exon_variant,,ENST00000493683,;RNF40,non_coding_transcript_exon_variant,,ENST00000566703,;CCDC189,upstream_gene_variant,,ENST00000544487,;CCDC189,upstream_gene_variant,,ENST00000543128,;CCDC189,upstream_gene_variant,,ENST00000544643,;CCDC189,upstream_gene_variant,,ENST00000546006,;CCDC189,upstream_gene_variant,,ENST00000545809,;RNF40,upstream_gene_variant,,ENST00000564260,;	T	ENST00000324685	Transcript	missense_variant	1760/5634	1325/3006	442/1001	R/L	cGc/cTc	rs146102570,COSM185094	1		1	RNF40	HGNC	HGNC:16867	protein_coding	YES	CCDS10691.1	ENSP00000325677	O75150	A0A024QZG0	UPI0000073F6C	NM_014771.3,NM_001207033.1,NM_001286572.2	deleterious(0)		11/20		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23163,hmmpanther:PTHR23163:SF1											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs146102570	.												T	3	4	14	30766772	30766772	G	T	1	0	0	0	0	1	0	0	0	13673	1087	38	1		1	RNF40	16	30766772	Missense_Mutation	SNP	G	C3L-00279_TP	29465	30766772	59571573	513	6588											
ITGAX	0	.	GRCh38	chr16	31362744	31362744	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgaaggccgaagtcacGgggactcaggttgggcgtga	10	6	18	7	3	2	2	2	2	0	0	2	5	2	4	1	6	0	1	1	6	2	1	rs577520206		C3L-00279_TP	C3L-00279_NB	G	G																c.1350G>T	p.=	p.T450T	ENST00000562522	12/31	179	163	16	166	166	0	strelka-varscan-mutect	ITGAX,synonymous_variant,p.=,ENST00000268296,NM_000887.4;ITGAX,synonymous_variant,p.=,ENST00000562522,NM_001286375.1;ITGAX,downstream_gene_variant,,ENST00000562918,;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,downstream_gene_variant,,ENST00000567409,;RP11-120K18.3,upstream_gene_variant,,ENST00000561830,;	T	ENST00000562522	Transcript	synonymous_variant	1383/3990	1350/3510	450/1169	T	acG/acT	rs577520206	1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1			12/31		Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,SMART_domains:SM00191,Superfamily_domains:SSF69318																	LOW	1	SNV	1			1										PASS		rs577520206	.												T	2	4	14	31362744	31362744	G	T	1	0	0	0	0	0	0	0	1	7796	1103	39	1		1	ITGAX	16	31362744	Silent	SNP	G	C3L-00279_TP	595972	31362744	58975601	514	6589											
ITGAX	0	.	GRCh38	chr16	31371210	31371210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggggccaggtgctcctgCtcaggtgagagcagcctttc	5	8	14	14	1	1	1	1	1	0	1	3	2	2	1	4	4	4	3	4	4	0	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1837C>T	p.Leu613Phe	p.L613F	ENST00000562522	15/31	91	78	13	91	91	0	strelka-varscan-mutect	ITGAX,missense_variant,p.Leu613Phe,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Leu613Phe,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,upstream_gene_variant,,ENST00000562138,;	T	ENST00000562522	Transcript	missense_variant	1870/3990	1837/3510	613/1169	L/F	Ctc/Ttc		1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	tolerated(0.08)		15/31		Gene3D:3nigC00,Prints_domain:PR01185,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,SMART_domains:SM00191,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	31371210	31371210	C	T	1	0	0	0	0	1	0	0	0	7796	811	28	3		3	ITGAX	16	31371210	Missense_Mutation	SNP	C	C3L-00279_TP	8466	31371210	58967135	515	6590											
ABCC11	0	.	GRCh38	chr16	48187245	48187245	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgattatggctcccattaaCaggatatatggagacagcac	14	10	9	8	0	0	2	0	1	0	1	1	4	1	3	1	3	2	2	1	3	4	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2889G>T	p.=	p.L963L	ENST00000394747	20/29	324	272	52	270	270	0	strelka-varscan-mutect	ABCC11,synonymous_variant,p.=,ENST00000394747,NM_033151.3;ABCC11,synonymous_variant,p.=,ENST00000356608,;ABCC11,synonymous_variant,p.=,ENST00000394748,NM_032583.3;ABCC11,synonymous_variant,p.=,ENST00000353782,NM_145186.2;ABCC11,non_coding_transcript_exon_variant,,ENST00000565329,;ABCC11,downstream_gene_variant,,ENST00000569172,;	A	ENST00000394747	Transcript	synonymous_variant	3239/4862	2889/4149	963/1382	L	ctG/ctT		1		-1	ABCC11	HGNC	HGNC:14639	protein_coding	YES	CCDS10732.1	ENSP00000378230	Q96J66	A0A024R6Q6	UPI0000052711	NM_033151.3			20/29		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF168,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123																	LOW	1	SNV	1			1										PASS		rs1196687490	.												A	2	1	14	48187245	48187245	C	A	1	0	0	0	0	0	0	0	1	55	465	17	2		2	ABCC11	16	48187245	Silent	SNP	C	C3L-00279_TP	16816035	48187245	42151100	516	6591											
ZNF423	0	.	GRCh38	chr16	49523699	49523699	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctcctgcccgtgcacGgcaaagatgtgctgctgcaa	7	10	11	13	2	0	1	0	0	0	1	2	1	2	1	3	1	5	5	3	1	2	1	rs767884892		C3L-00279_TP	C3L-00279_NB	G	G																c.3750C>A	p.=	p.A1250A	ENST00000561648	8/9	235	219	16	258	258	0	strelka-varscan-mutect	ZNF423,synonymous_variant,p.=,ENST00000561648,;ZNF423,synonymous_variant,p.=,ENST00000563137,;ZNF423,synonymous_variant,p.=,ENST00000262383,NM_015069.3;ZNF423,synonymous_variant,p.=,ENST00000562871,;ZNF423,synonymous_variant,p.=,ENST00000535559,;ZNF423,synonymous_variant,p.=,ENST00000562520,NM_001271620.1;ZNF423,synonymous_variant,p.=,ENST00000567169,;	T	ENST00000561648	Transcript	synonymous_variant	4051/7907	3750/3855	1250/1284	A	gcC/gcA	rs767884892	1		-1	ZNF423	HGNC	HGNC:16762	protein_coding	YES	CCDS32445.1	ENSP00000455426	Q2M1K9		UPI0000353ABC				8/9		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	5			1										PASS		rs767884892	.												T	2	4	14	49523699	49523699	G	T	1	0	0	0	0	0	0	0	1	18470	1103	39	1		1	ZNF423	16	49523699	Silent	SNP	G	C3L-00279_TP	1336454	49523699	40814646	517	6592											
SALL1	0	.	GRCh38	chr16	51138768	51138768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagtgtgagttctctcgtGaatctgcagggcactcgatg	7	12	12	10	2	2	2	0	2	2	0	6	3	3	2	1	1	1	3	1	1	1	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.3454C>G	p.His1152Asp	p.H1152D	ENST00000251020	2/3	212	191	21	197	197	0	strelka-varscan-mutect	SALL1,missense_variant,p.His1055Asp,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.His1152Asp,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.His1055Asp,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	C	ENST00000251020	Transcript	missense_variant	3488/5146	3454/3975	1152/1324	H/D	Cac/Gac		1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	deleterious(0)		2/3		PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF12874,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1250230086	.												C	3	2	14	51138768	51138768	G	C	1	0	0	0	0	1	0	0	0	14069	1290	45	4		4	SALL1	16	51138768	Missense_Mutation	SNP	G	C3L-00279_TP	1615069	51138768	39199577	518	6593											
IRX6	0	.	GRCh38	chr16	55329307	55329307	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagtacccgtctggagcAgaaggtagtgggcccccagc	8	6	14	13	1	1	1	0	0	1	1	1	2	1	2	4	3	4	3	4	3	3	2	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.1329A>T	p.=	p.A443A	ENST00000290552	5/6	69	63	6	58	58	0	strelka-varscan-mutect	IRX6,synonymous_variant,p.=,ENST00000290552,NM_024335.2;RP11-26L20.4,upstream_gene_variant,,ENST00000573934,;RP11-26L20.3,intron_variant,,ENST00000558730,;IRX6,downstream_gene_variant,,ENST00000558315,;	T	ENST00000290552	Transcript	synonymous_variant	2661/3128	1329/1341	443/446	A	gcA/gcT		1		1	IRX6	HGNC	HGNC:14675	protein_coding	YES	CCDS32449.1	ENSP00000290552	P78412		UPI00001C0A88	NM_024335.2			5/6		hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF11																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	55329307	55329307	A	T	1	0	0	0	0	0	0	0	1	7756	202	7	4		4	IRX6	16	55329307	Silent	SNP	A	C3L-00279_TP	4190539	55329307	35009038	519	6594											
COQ9	0	.	GRCh38	chr16	57459592	57459592	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtacacccgccgagccatgCtggctgccatctacaacaca	10	6	9	16	2	1	0	0	0	1	0	1	1	1	0	4	2	6	3	4	2	3	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.739C>T	p.=	p.L247L	ENST00000262507	7/9	517	470	47	462	462	0	strelka-varscan-mutect	COQ9,synonymous_variant,p.=,ENST00000262507,NM_020312.3;COQ9,synonymous_variant,p.=,ENST00000567072,;COQ9,synonymous_variant,p.=,ENST00000564655,;COQ9,synonymous_variant,p.=,ENST00000567933,;COQ9,synonymous_variant,p.=,ENST00000565964,;COQ9,intron_variant,,ENST00000563166,;POLR2C,upstream_gene_variant,,ENST00000219252,NM_032940.2;COQ9,downstream_gene_variant,,ENST00000563391,;POLR2C,upstream_gene_variant,,ENST00000564651,;AC009052.12,upstream_gene_variant,,ENST00000567090,;COQ9,3_prime_UTR_variant,,ENST00000564115,;COQ9,non_coding_transcript_exon_variant,,ENST00000569980,;POLR2C,upstream_gene_variant,,ENST00000567982,;POLR2C,upstream_gene_variant,,ENST00000563115,;COQ9,downstream_gene_variant,,ENST00000562734,;COQ9,downstream_gene_variant,,ENST00000568790,;COQ9,downstream_gene_variant,,ENST00000562426,;POLR2C,upstream_gene_variant,,ENST00000562953,;POLR2C,upstream_gene_variant,,ENST00000562599,;COQ9,downstream_gene_variant,,ENST00000567576,;COQ9,downstream_gene_variant,,ENST00000567480,;POLR2C,upstream_gene_variant,,ENST00000564626,;	T	ENST00000262507	Transcript	synonymous_variant	808/1677	739/957	247/318	L	Ctg/Ttg		1		1	COQ9	HGNC	HGNC:25302	protein_coding	YES	CCDS32459.1	ENSP00000262507	O75208	A0A024R6U3	UPI0000070ECA	NM_020312.3			7/9		hmmpanther:PTHR21427,Pfam_domain:PF08511,TIGRFAM_domain:TIGR02396																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	57459592	57459592	C	T	1	0	0	0	0	0	0	0	1	3545	796	28	3		3	COQ9	16	57459592	Silent	SNP	C	C3L-00279_TP	2130285	57459592	32878753	520	6595											
CNGB1	0	.	GRCh38	chr16	57962980	57962980	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccagcagtacctgagcCgggtcctccgtgatgctgtg	6	8	13	14	2	0	2	0	2	0	0	2	2	2	2	6	1	5	3	6	1	1	1			C3L-00279_TP	C3L-00279_NB	C	C																c.375G>T	p.=	p.P125P	ENST00000251102	5/33	577	521	56	507	507	0	strelka-varscan-mutect	CNGB1,synonymous_variant,p.=,ENST00000251102,NM_001297.4;CNGB1,synonymous_variant,p.=,ENST00000564448,NM_001286130.1;CNGB1,synonymous_variant,p.=,ENST00000311183,NM_001135639.1;CNGB1,synonymous_variant,p.=,ENST00000562761,;CNGB1,downstream_gene_variant,,ENST00000567568,;	A	ENST00000251102	Transcript	synonymous_variant	436/5641	375/3756	125/1251	P	ccG/ccT	COSM1378614,COSM5167064	1		-1	CNGB1	HGNC	HGNC:2151	protein_coding	YES	CCDS42169.1	ENSP00000251102	Q14028		UPI000013CCDF	NM_001297.4			5/33													1,1						LOW	1	SNV	1		1,1	1										PASS		rs1406243873	.												A	2	1	14	57962980	57962980	C	A	1	0	0	0	0	0	0	0	1	3380	639	23	1		1	CNGB1	16	57962980	Silent	SNP	C	C3L-00279_TP	503388	57962980	32375365	521	6596											
CARMIL2	0	.	GRCh38	chr16	67648315	67648315	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaacgtcttctcccgcacGtaagggggacctgtcggggc	7	7	15	12	4	2	0	0	0	2	0	4	2	2	2	2	5	1	2	2	5	2	2	rs780608299		C3L-00279_TP	C3L-00279_NB	G	G																c.1334+1G>T		p.X445_splice	ENST00000334583		116	101	15	134	134	0	strelka-varscan-mutect	CARMIL2,splice_donor_variant,,ENST00000334583,NM_001013838.1;CARMIL2,splice_donor_variant,,ENST00000545661,NM_001317026.1;CARMIL2,splice_donor_variant,,ENST00000602742,;CARMIL2,non_coding_transcript_exon_variant,,ENST00000602321,;CARMIL2,downstream_gene_variant,,ENST00000602563,;CARMIL2,upstream_gene_variant,,ENST00000602562,;CARMIL2,upstream_gene_variant,,ENST00000602633,;CARMIL2,upstream_gene_variant,,ENST00000602931,;CARMIL2,upstream_gene_variant,,ENST00000602924,;CARMIL2,downstream_gene_variant,,ENST00000602467,;	T	ENST00000334583	Transcript	splice_donor_variant	-/4687	1334/4308	445/1435			rs780608299	1		1	CARMIL2	HGNC	HGNC:27089	protein_coding	YES	CCDS45513.1	ENSP00000334958	Q6F5E8		UPI00005194F2	NM_001013838.1				14/37																		HIGH	1	SNV	1			1										PASS		rs780608299	.												T	5	4	14	67648315	67648315	G	T	1	0	0	0	0	0	0	1	0	2352	1159	40	1		1	CARMIL2	16	67648315	Splice_Site	SNP	G	C3L-00279_TP	9685335	67648315	22690030	522	6597											
CDH3	0	.	GRCh38	chr16	68681092	68681092	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccatgtttgacccccAgaaggtaatgccccttcctc	7	11	7	16	0	0	2	0	1	0	1	3	2	2	2	6	1	2	3	6	1	2	3	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.992A>T	p.Gln331Leu	p.Q331L	ENST00000264012	8/16	649	560	89	606	606	0	strelka-varscan-mutect	CDH3,missense_variant,p.Gln331Leu,ENST00000264012,NM_001793.4;CDH3,missense_variant,p.Gln331Leu,ENST00000429102,NM_001317195.1;CDH3,3_prime_UTR_variant,,ENST00000542274,;CDH3,3_prime_UTR_variant,,ENST00000569036,;CDH3,downstream_gene_variant,,ENST00000566808,;	T	ENST00000264012	Transcript	missense_variant	1536/4929	992/2490	331/829	Q/L	cAg/cTg		1		1	CDH3	HGNC	HGNC:1762	protein_coding	YES	CCDS10868.1	ENSP00000264012	P22223		UPI0000161BFF	NM_001793.4	tolerated(0.23)		8/16		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF267,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	1			1										PASS		rs955742330	.												T	3	4	14	68681092	68681092	A	T	1	0	0	0	0	1	0	0	0	2814	202	7	4		4	CDH3	16	68681092	Missense_Mutation	SNP	A	C3L-00279_TP	1032777	68681092	21657253	523	6598											
GLG1	0	.	GRCh38	chr16	74465793	74465793	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcttagctgcttcttgttTtctttcagacattcgataat	7	19	7	8	1	3	1	1	0	2	1	4	2	3	1	0	0	3	4	0	0	2	8	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.2550A>T	p.Glu850Asp	p.E850D	ENST00000205061	19/27	213	188	25	181	181	0	strelka-varscan-mutect	GLG1,missense_variant,p.Glu850Asp,ENST00000205061,NM_012201.5;GLG1,missense_variant,p.Glu850Asp,ENST00000422840,NM_001145667.1;GLG1,missense_variant,p.Glu839Asp,ENST00000447066,NM_001145666.1;Y_RNA,upstream_gene_variant,,ENST00000384794,;GLG1,3_prime_UTR_variant,,ENST00000562090,;GLG1,3_prime_UTR_variant,,ENST00000567951,;GLG1,non_coding_transcript_exon_variant,,ENST00000561481,;GLG1,downstream_gene_variant,,ENST00000566601,;GLG1,upstream_gene_variant,,ENST00000563646,;GLG1,downstream_gene_variant,,ENST00000563432,;	A	ENST00000205061	Transcript	missense_variant	2570/8261	2550/3612	850/1203	E/D	gaA/gaT		1		-1	GLG1	HGNC	HGNC:4316	protein_coding	YES	CCDS32485.1	ENSP00000205061	Q92896		UPI00001FFBD9	NM_012201.5	tolerated(0.27)		19/27		PROSITE_profiles:PS51289,hmmpanther:PTHR11884:SF1,hmmpanther:PTHR11884,Pfam_domain:PF00839																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	74465793	74465793	T	A	1	0	0	0	0	1	0	0	0	6314	1838	64	4		4	GLG1	16	74465793	Missense_Mutation	SNP	T	C3L-00279_TP	5784701	74465793	15872552	524	6599											
ZNF469	0	.	GRCh38	chr16	88429342	88429342	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagctcagaggaaagccaGctccccggccccctcgggcc	7	3	11	20	2	1	1	1	0	0	1	3	2	2	2	7	3	3	2	7	3	1	0			C3L-00279_TP	C3L-00279_NB	G	G																c.1872G>A	p.=	p.Q624Q	ENST00000437464	1/2	590	507	83	531	530	1	strelka-varscan-mutect	ZNF469,synonymous_variant,p.=,ENST00000565624,;ZNF469,synonymous_variant,p.=,ENST00000437464,NM_001127464.2;	A	ENST00000437464	Transcript	synonymous_variant	1872/13203	1872/11778	624/3925	Q	caG/caA	COSM5641633	1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2			1/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465											1						LOW	1	SNV	5		1	1										PASS		.	.												A	2	1	14	88429342	88429342	G	A	1	0	0	0	0	0	0	0	1	18500	962	34	3		3	ZNF469	16	88429342	Silent	SNP	G	C3L-00279_TP	13963549	88429342	1909003	525	6600											
NLRP1	0	.	GRCh38	chr17	5530635	5530635	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcaatctcaacggtcacCgcttctctcatcacaaagca	13	10	4	14	2	6	0	5	0	2	0	8	0	6	0	1	1	2	2	1	1	4	2	rs200040886		C3L-00279_TP	C3L-00279_NB	C	C																c.3366G>T	p.=	p.A1122A	ENST00000617618	13/18	401	350	51	394	393	1	strelka-varscan-mutect	NLRP1,synonymous_variant,p.=,ENST00000262467,NM_001033053.2;NLRP1,synonymous_variant,p.=,ENST00000269280,NM_014922.4;NLRP1,synonymous_variant,p.=,ENST00000617618,NM_033004.3;NLRP1,synonymous_variant,p.=,ENST00000619223,NM_033006.3;NLRP1,synonymous_variant,p.=,ENST00000345221,;NLRP1,synonymous_variant,p.=,ENST00000613500,;NLRP1,synonymous_variant,p.=,ENST00000572272,;NLRP1,synonymous_variant,p.=,ENST00000354411,;NLRP1,synonymous_variant,p.=,ENST00000577119,NM_033007.3;NLRP1,non_coding_transcript_exon_variant,,ENST00000571307,;NLRP1,synonymous_variant,p.=,ENST00000544378,;NLRP1,3_prime_UTR_variant,,ENST00000571451,;	A	ENST00000617618	Transcript	synonymous_variant	3732/4788	3366/4422	1122/1473	A	gcG/gcT	rs200040886	1		-1	NLRP1	HGNC	HGNC:14374	protein_coding	YES	CCDS42246.1	ENSP00000478516	Q9C000		UPI0000038309	NM_033004.3			13/18		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF13,Pfam_domain:PF13553																	LOW	1	SNV	5			1										PASS		rs200040886	.												A	2	1	14	5530635	5530635	C	A	1	0	0	0	0	0	0	0	1	10508	639	23	1		1	NLRP1	17	5530635	Silent	SNP	C	C3L-00279_TP		5530635	77726806	526	6601											
NLRP1	0	.	GRCh38	chr17	5533980	5533980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtaggggtcatcacaCttggtttcctggacaaagaa	11	10	10	10	0	3	1	3	0	0	1	4	2	4	2	2	4	0	2	2	4	3	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2969G>C	p.Ser990Thr	p.S990T	ENST00000617618	10/18	174	156	18	256	256	0	strelka-varscan-mutect	NLRP1,missense_variant,p.Ser990Thr,ENST00000262467,NM_001033053.2;NLRP1,missense_variant,p.Ser990Thr,ENST00000269280,NM_014922.4;NLRP1,missense_variant,p.Ser990Thr,ENST00000617618,NM_033004.3;NLRP1,missense_variant,p.Ser960Thr,ENST00000619223,NM_033006.3;NLRP1,missense_variant,p.Ser990Thr,ENST00000345221,;NLRP1,missense_variant,p.Ser990Thr,ENST00000613500,;NLRP1,missense_variant,p.Ser990Thr,ENST00000572272,;NLRP1,missense_variant,p.Ser960Thr,ENST00000354411,;NLRP1,missense_variant,p.Ser960Thr,ENST00000577119,NM_033007.3;NLRP1,non_coding_transcript_exon_variant,,ENST00000571307,;NLRP1,missense_variant,p.Ser990Thr,ENST00000571451,;NLRP1,missense_variant,p.Ser990Thr,ENST00000544378,;	G	ENST00000617618	Transcript	missense_variant	3335/4788	2969/4422	990/1473	S/T	aGt/aCt		1		-1	NLRP1	HGNC	HGNC:14374	protein_coding	YES	CCDS42246.1	ENSP00000478516	Q9C000		UPI0000038309	NM_033004.3	tolerated(0.39)		10/18		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF13																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	14	5533980	5533980	C	G	1	0	0	0	0	1	0	0	0	10508	565	20	4		4	NLRP1	17	5533980	Missense_Mutation	SNP	C	C3L-00279_TP	3345	5533980	77723461	527	6602											
AIPL1	0	.	GRCh38	chr17	6426679	6426679	+	Frame_Shift_Del	DEL	C	C	-																															tagtactcctccttcttcagCaggcactggcagtagttgag																								novel		C3L-00279_TP	C3L-00279_NB	C	C																c.720delG	p.Leu241Ter	p.L241*	ENST00000381129	5/6	298	258	40	314	314	0	sindel-varindel-pindel	AIPL1,frameshift_variant,p.Leu241Ter,ENST00000381129,NM_014336.4;AIPL1,frameshift_variant,p.Leu178Ter,ENST00000250087,NM_001033054.2;AIPL1,frameshift_variant,p.Leu241Ter,ENST00000575265,;AIPL1,frameshift_variant,p.Leu229Ter,ENST00000574506,NM_001285399.2,NM_001285402.1;AIPL1,frameshift_variant,p.Leu233Ter,ENST00000571740,NM_001285403.2;AIPL1,frameshift_variant,p.Leu219Ter,ENST00000570466,NM_001285400.2;AIPL1,frameshift_variant,p.Leu217Ter,ENST00000576776,NM_001285401.2;AIPL1,frameshift_variant,p.Leu181Ter,ENST00000576307,NM_001033055.2;AIPL1,intron_variant,,ENST00000570584,;AIPL1,downstream_gene_variant,,ENST00000574913,;AIPL1,3_prime_UTR_variant,,ENST00000381128,;	-	ENST00000381129	Transcript	frameshift_variant	801/2959	720/1155	240/384	L/X	ctG/ct		1		-1	AIPL1	HGNC	HGNC:359	protein_coding	YES	CCDS11075.1	ENSP00000370521	Q9NZN9	F1T0B6	UPI0000125741	NM_014336.4			5/6		Gene3D:1.25.40.10,PROSITE_profiles:PS50293,hmmpanther:PTHR11242,hmmpanther:PTHR11242:SF2,Low_complexity_(Seg):seg,Superfamily_domains:SSF48452																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	14	6426679	6426679	C	-	1	0	1	0	1	0	0	0	0	513	724	25	0		0	AIPL1	17	6426679	Frame_Shift_Del	DEL	C	C3L-00279_TP	892699	6426679	76830762	528	6603											
PITPNM3	0	.	GRCh38	chr17	6464667	6464667	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtaccttctctccagtCagagccaccatgtcgagggg	8	8	11	14	1	2	1	1	0	1	1	5	2	3	1	5	3	2	1	5	3	1	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1995G>T	p.=	p.L665L	ENST00000262483	15/20	139	125	14	117	117	0	strelka-varscan-mutect	PITPNM3,synonymous_variant,p.=,ENST00000262483,NM_031220.3;PITPNM3,synonymous_variant,p.=,ENST00000421306,NM_001165966.1;PITPNM3,upstream_gene_variant,,ENST00000575201,;PITPNM3,non_coding_transcript_exon_variant,,ENST00000576664,;PITPNM3,non_coding_transcript_exon_variant,,ENST00000572795,;	A	ENST00000262483	Transcript	synonymous_variant	2083/7086	1995/2925	665/974	L	ctG/ctT		1		-1	PITPNM3	HGNC	HGNC:21043	protein_coding	YES	CCDS11076.1	ENSP00000262483	Q9BZ71		UPI000022A281	NM_031220.3			15/20		hmmpanther:PTHR10658																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	6464667	6464667	C	A	1	0	0	0	0	0	0	0	1	12048	813	29	2		2	PITPNM3	17	6464667	Silent	SNP	C	C3L-00279_TP	37988	6464667	76792774	529	6604											
TP53	0	.	GRCh38	chr17	7674947	7674947	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttccttccactcggAtaagatgctgaggaggggcc	10	9	12	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	2	3	4	2	3	rs760043106		C3L-00279_TP	C3L-00279_NB	A	A																c.584T>C	p.Ile195Thr	p.I195T	ENST00000269305	6/11	617	528	89	556	556	0	strelka-varscan-mutect	TP53,missense_variant,p.Ile195Thr,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Ile195Thr,ENST00000420246,;TP53,missense_variant,p.Ile156Thr,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Ile156Thr,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Ile195Thr,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Ile156Thr,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Ile195Thr,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Ile156Thr,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Ile195Thr,ENST00000445888,;TP53,missense_variant,p.Ile156Thr,ENST00000619485,;TP53,missense_variant,p.Ile63Thr,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Ile36Thr,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Ile63Thr,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Ile36Thr,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Ile63Thr,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Ile36Thr,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Ile195Thr,ENST00000359597,;TP53,missense_variant,p.Ile184Thr,ENST00000615910,;TP53,missense_variant,p.Ile195Thr,ENST00000413465,;TP53,missense_variant,p.Ile63Thr,ENST00000509690,;TP53,missense_variant,p.Ile102Thr,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,missense_variant,p.Ile156Thr,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	G	ENST00000269305	Transcript	missense_variant	774/2579	584/1182	195/393	I/T	aTc/aCc	rs760043106,CM092575,TP53_g.12653T>G,TP53_g.12653T>C,TP53_g.12653T>A,COSM11089,COSM116921,COSM116922,COSM116923,COSM116924,COSM1645297,COSM1738250,COSM1738251,COSM1738252,COSM1738253,COSM1738254,COSM212744,COSM212745,COSM212746,COSM212747,COSM3403267,COSM3421936,COSM44539,COSM44877,COSM4858456,COSM4858457	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		6/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417										pathogenic	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs760043106	.												G	3	3	14	7674947	7674947	A	G	1	0	0	0	0	1	0	0	0	16859	333	12	5		5	TP53	17	7674947	Missense_Mutation	SNP	A	C3L-00279_TP	1210280	7674947	75582494	530	6605											
PIK3R5	0	.	GRCh38	chr17	8904776	8904776	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccagctgcctcagtgcttaCctggggccttgagttcagca	6	10	12	13	0	2	1	2	1	0	0	2	1	2	1	4	2	5	4	4	2	1	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.412+1G>T		p.X138_splice	ENST00000447110		141	118	23	133	133	0	strelka-varscan-mutect	PIK3R5,splice_donor_variant,,ENST00000447110,NM_001142633.2;PIK3R5,splice_donor_variant,,ENST00000616147,NM_001251852.1;PIK3R5,splice_donor_variant,,ENST00000611902,NM_001251853.1,NM_001251851.1;PIK3R5,splice_donor_variant,,ENST00000623421,NM_001251855.1;PIK3R5,splice_donor_variant,,ENST00000581552,NM_014308.3;PIK3R5,splice_donor_variant,,ENST00000584803,;PIK3R5,downstream_gene_variant,,ENST00000581895,;PIK3R5,splice_donor_variant,,ENST00000578457,;PIK3R5,splice_donor_variant,,ENST00000580959,;PIK3R5,splice_donor_variant,,ENST00000577981,;PIK3R5,splice_donor_variant,,ENST00000269300,;PIK3R5,splice_donor_variant,,ENST00000578515,;	A	ENST00000447110	Transcript	splice_donor_variant	-/4495	412/2643	138/880				1		-1	PIK3R5	HGNC	HGNC:30035	protein_coding	YES	CCDS11147.1	ENSP00000392812	Q8WYR1	L7RT34	UPI0000071DB4	NM_001142633.2				5/18																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	14	8904776	8904776	C	A	1	0	0	0	0	0	0	1	0	12017	521	18	2		2	PIK3R5	17	8904776	Splice_Site	SNP	C	C3L-00279_TP	1229829	8904776	74352665	531	6606											
DNAH9	0	.	GRCh38	chr17	11690022	11690022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgtgagcttcactatggaCcaggacaccaccctagcgca	10	7	11	13	1	1	1	1	1	0	0	1	3	1	3	3	3	2	2	3	3	2	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.4200C>A	p.Asp1400Glu	p.D1400E	ENST00000262442	20/69	460	397	63	599	599	0	strelka-varscan-mutect	DNAH9,missense_variant,p.Asp1400Glu,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Asp1400Glu,ENST00000454412,;	A	ENST00000262442	Transcript	missense_variant	4268/13750	4200/13461	1400/4486	D/E	gaC/gaA		1		1	DNAH9	HGNC	HGNC:2953	protein_coding	YES	CCDS11160.1	ENSP00000262442	Q9NYC9		UPI0000141BA2	NM_001372.3	tolerated(0.05)		20/69		Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	11690022	11690022	C	A	1	0	0	0	0	1	0	0	0	4423	506	18	2		2	DNAH9	17	11690022	Missense_Mutation	SNP	C	C3L-00279_TP	2785246	11690022	71567419	532	6607											
FBXW10	0	.	GRCh38	chr17	18749747	18749747	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatggaggaattcactccgGtgtatatccgaaatgaatag	13	10	10	8	2	1	1	1	1	0	0	3	4	3	3	3	3	0	1	3	3	6	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.696G>T	p.=	p.R232R	ENST00000395665	3/14	237	214	23	224	224	0	varscan-mutect	FBXW10,synonymous_variant,p.=,ENST00000308799,;FBXW10,synonymous_variant,p.=,ENST00000395665,NM_001267585.1;FBXW10,synonymous_variant,p.=,ENST00000301938,NM_001267586.1;FBXW10,3_prime_UTR_variant,,ENST00000574478,;	T	ENST00000395665	Transcript	synonymous_variant	917/3431	696/3159	232/1052	R	cgG/cgT		1		1	FBXW10	HGNC	HGNC:1211	protein_coding	YES	CCDS11199.3	ENSP00000379025	Q5XX13		UPI0000200B30	NM_001267585.1			3/14		hmmpanther:PTHR19872,hmmpanther:PTHR19872:SF7																	LOW	1	SNV	1			1										PASS		rs1172318381	.												T	2	4	14	18749747	18749747	G	T	1	0	0	0	0	0	0	0	1	5626	1248	44	2		2	FBXW10	17	18749747	Silent	SNP	G	C3L-00279_TP	7059725	18749747	64507694	533	6608											
CCL3	0	.	GRCh38	chr17	36088759	36088759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccggcttcgcttggttagGaagctgtggagaagggagga	8	9	18	6	2	0	1	0	0	0	1	1	5	0	4	1	6	2	4	1	6	3	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.192C>A	p.Phe64Leu	p.F64L	ENST00000613922	3/3	430	380	50	458	458	0	strelka-varscan-mutect	CCL3,missense_variant,p.Phe64Leu,ENST00000613922,NM_002983.2;AC069363.1,intron_variant,,ENST00000616926,;AC069363.1,intron_variant,,ENST00000620056,;AC069363.1,intron_variant,,ENST00000615750,;CCL3,non_coding_transcript_exon_variant,,ENST00000614051,;CCL3,intron_variant,,ENST00000613928,;	T	ENST00000613922	Transcript	missense_variant	275/778	192/279	64/92	F/L	ttC/ttA		1		-1	CCL3	HGNC	HGNC:10627	protein_coding	YES	CCDS11307.1	ENSP00000477908	P10147		UPI00001362C9	NM_002983.2	deleterious(0)		3/3		Gene3D:2.40.50.40,Pfam_domain:PF00048,PROSITE_patterns:PS00472,hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF94,SMART_domains:SM00199,Superfamily_domains:SSF54117																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	36088759	36088759	G	T	1	0	0	0	0	1	0	0	0	2599	1188	41	2		2	CCL3	17	36088759	Missense_Mutation	SNP	G	C3L-00279_TP	17339012	36088759	47168682	534	6609											
SRCIN1	0	.	GRCh38	chr17	38543855	38543855	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggatccgcatgtactcggCcctctgcttgccatgtttgc	4	13	10	14	2	1	0	0	0	1	0	3	1	2	1	3	2	4	4	3	2	1	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.3385G>T	p.Ala1129Ser	p.A1129S	ENST00000617146	18/19	239	204	35	164	164	0	strelka-varscan-mutect	SRCIN1,missense_variant,p.Ala1129Ser,ENST00000617146,NM_025248.2;SRCIN1,missense_variant,p.Ala1163Ser,ENST00000621492,;SRCIN1,missense_variant,p.Ala917Ser,ENST00000622190,;SRCIN1,downstream_gene_variant,,ENST00000613927,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000621763,;SRCIN1,downstream_gene_variant,,ENST00000621275,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000622519,;	A	ENST00000617146	Transcript	missense_variant	3610/7058	3385/3552	1129/1183	A/S	Gcc/Tcc		1		-1	SRCIN1	HGNC	HGNC:29506	protein_coding	YES	CCDS45660.1	ENSP00000484715	Q9C0H9		UPI0000E27F82	NM_025248.2	tolerated(0.51)		18/19		hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF5																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	14	38543855	38543855	C	A	1	0	0	0	0	1	0	0	0	15494	739	26	2		2	SRCIN1	17	38543855	Missense_Mutation	SNP	C	C3L-00279_TP	2455096	38543855	44713586	535	6610											
GSDMB	0	.	GRCh38	chr17	39905904	39905904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgcttctaccaagacccCagcagcattaaaaaggctgc	13	6	8	14	2	1	1	0	0	1	1	1	1	1	1	3	1	4	4	3	1	5	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.970G>C	p.Gly324Arg	p.G324R	ENST00000418519	9/11	262	247	15	259	259	0	strelka-varscan-mutect	GSDMB,missense_variant,p.Gly302Arg,ENST00000394175,NM_018530.2;GSDMB,missense_variant,p.Gly324Arg,ENST00000418519,NM_001165958.1;GSDMB,missense_variant,p.Gly315Arg,ENST00000520542,NM_001165959.1;GSDMB,missense_variant,p.Gly311Arg,ENST00000309481,NM_001042471.1;GSDMB,missense_variant,p.Gly324Arg,ENST00000360317,;GSDMB,missense_variant,p.Gly311Arg,ENST00000394179,;GSDMB,3_prime_UTR_variant,,ENST00000523371,;GSDMB,3_prime_UTR_variant,,ENST00000524039,;GSDMB,3_prime_UTR_variant,,ENST00000522564,;GSDMB,non_coding_transcript_exon_variant,,ENST00000477054,;GSDMB,non_coding_transcript_exon_variant,,ENST00000479136,;GSDMB,non_coding_transcript_exon_variant,,ENST00000486560,;GSDMB,downstream_gene_variant,,ENST00000464556,;GSDMB,downstream_gene_variant,,ENST00000519429,;GSDMB,downstream_gene_variant,,ENST00000468820,;	G	ENST00000418519	Transcript	missense_variant	1101/1597	970/1251	324/416	G/R	Ggg/Cgg		1		-1	GSDMB	HGNC	HGNC:23690	protein_coding	YES	CCDS54120.1	ENSP00000415049	Q8TAX9		UPI0000200C24	NM_001165958.1	deleterious(0)		9/11		hmmpanther:PTHR16399,hmmpanther:PTHR16399:SF20,Pfam_domain:PF04598																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	14	39905904	39905904	C	G	1	0	0	0	0	1	0	0	0	6699	594	21	4		4	GSDMB	17	39905904	Missense_Mutation	SNP	C	C3L-00279_TP	1362049	39905904	43351537	536	6611											
LRRC3C	0	.	GRCh38	chr17	39944569	39944569	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggcccggaggagcacCgatgtggccctgctggtcac	5	6	18	12	2	1	0	1	0	0	0	1	3	1	2	3	7	2	2	3	7	0	0	rs145060487		C3L-00279_TP	C3L-00279_NB	C	C																c.663C>A	p.=	p.T221T	ENST00000377924	2/2	86	74	12	92	91	1	strelka-varscan-mutect	LRRC3C,synonymous_variant,p.=,ENST00000377924,NM_001195545.1;RP11-387H17.4,downstream_gene_variant,,ENST00000582263,;	A	ENST00000377924	Transcript	synonymous_variant	713/891	663/828	221/275	T	acC/acA	rs145060487	1		1	LRRC3C	HGNC	HGNC:40034	protein_coding	YES	CCDS54121.1	ENSP00000367157	A6NJW4		UPI0000198ACC	NM_001195545.1			2/2																			LOW	1	SNV	3			1										PASS		rs145060487	.												A	2	1	14	39944569	39944569	C	A	1	0	0	0	0	0	0	0	1	8892	639	23	1		1	LRRC3C	17	39944569	Silent	SNP	C	C3L-00279_TP	38665	39944569	43312872	537	6612											
KRT23	0	.	GRCh38	chr17	40936481	40936481	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgaaggacagggagatgcgGgctccccccgcaccgccatg	8	4	15	14	3	0	2	0	1	0	1	1	4	1	3	5	3	1	2	5	3	1	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.123C>A	p.=	p.A41A	ENST00000209718	2/9	76	66	10	48	48	0	strelka-varscan-mutect	KRT23,synonymous_variant,p.=,ENST00000209718,NM_015515.4;KRT23,synonymous_variant,p.=,ENST00000485751,;KRT23,intron_variant,,ENST00000436344,NM_001282433.1;KRT23,upstream_gene_variant,,ENST00000584517,;AC004231.2,intron_variant,,ENST00000418393,;KRT23,downstream_gene_variant,,ENST00000582283,;KRT23,downstream_gene_variant,,ENST00000585006,;KRT23,non_coding_transcript_exon_variant,,ENST00000582754,;KRT23,intron_variant,,ENST00000462312,;KRT23,intron_variant,,ENST00000494691,;	T	ENST00000209718	Transcript	synonymous_variant	548/1987	123/1269	41/422	A	gcC/gcA		1		-1	KRT23	HGNC	HGNC:6438	protein_coding	YES	CCDS11380.1	ENSP00000209718	Q9C075	A0A024R1X9	UPI000013C66F	NM_015515.4			2/9		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF44																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	40936481	40936481	G	T	1	0	0	0	0	0	0	0	1	8342	1219	43	2		2	KRT23	17	40936481	Silent	SNP	G	C3L-00279_TP	991912	40936481	42320960	538	6613											
KRT34	0	.	GRCh38	chr17	41379068	41379068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgctccaggtcacagcGgatctctgccagctgagact	7	8	11	15	2	2	1	1	1	1	1	4	3	3	2	3	2	4	2	3	2	0	0	rs529354447		C3L-00279_TP	C3L-00279_NB	G	G																c.1111C>A	p.Arg371Ser	p.R371S	ENST00000394001	6/7	544	475	69	513	513	0	strelka-varscan-mutect	KRT34,missense_variant,p.Arg371Ser,ENST00000394001,NM_021013.3;	T	ENST00000394001	Transcript	missense_variant	1142/1751	1111/1311	371/436	R/S	Cgc/Agc	rs529354447,COSM3517314	1		-1	KRT34	HGNC	HGNC:6452	protein_coding	YES	CCDS11390.1	ENSP00000377570	O76011		UPI000013CD0C	NM_021013.3	deleterious(0)		6/7		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,Prints_domain:PR01248,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF165,SMART_domains:SM01391,Superfamily_domains:SSF64593											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs529354447	.												T	3	4	14	41379068	41379068	G	T	1	0	0	0	0	1	0	0	0	8353	1116	39	1		1	KRT34	17	41379068	Missense_Mutation	SNP	G	C3L-00279_TP	442587	41379068	41878373	539	6614											
ADAM11	0	.	GRCh38	chr17	44777251	44777251	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcaagggatctggctgggtCcagtgcagtaagcagtgagt	9	8	16	8	1	1	1	0	1	1	0	2	2	2	2	1	3	2	5	1	3	2	1			C3L-00279_TP	C3L-00279_NB	C	C																c.1767C>T	p.=	p.V589V	ENST00000200557	21/27	84	71	13	75	75	0	strelka-varscan-mutect	ADAM11,synonymous_variant,p.=,ENST00000200557,NM_001318933.1,NM_002390.4;ADAM11,synonymous_variant,p.=,ENST00000535346,;ADAM11,synonymous_variant,p.=,ENST00000587773,;ADAM11,3_prime_UTR_variant,,ENST00000355638,;ADAM11,non_coding_transcript_exon_variant,,ENST00000588363,;	T	ENST00000200557	Transcript	synonymous_variant	1936/4571	1767/2310	589/769	V	gtC/gtT	COSM5342941,COSM5342942	1		1	ADAM11	HGNC	HGNC:189	protein_coding	YES	CCDS11486.1	ENSP00000200557	O75078		UPI000013C629	NM_001318933.1,NM_002390.4			21/27		Pfam_domain:PF08516,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF114,SMART_domains:SM00608											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	14	44777251	44777251	C	T	1	0	0	0	0	0	0	0	1	279	842	30	3		3	ADAM11	17	44777251	Silent	SNP	C	C3L-00279_TP	3398183	44777251	38480190	540	6615											
MAP3K14	0	.	GRCh38	chr17	45286572	45286572	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgccttgcagagcatgcacTaggtattcctccacagaaaa	12	9	8	12	0	0	2	0	0	0	2	2	2	2	2	3	1	4	4	3	1	4	4	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.1011A>T	p.=	p.L337L	ENST00000376926	4/15	315	269	46	218	217	1	strelka-varscan-mutect	MAP3K14,synonymous_variant,p.=,ENST00000376926,;MAP3K14,synonymous_variant,p.=,ENST00000344686,NM_003954.4;MAP3K14,intron_variant,,ENST00000617331,;	A	ENST00000376926	Transcript	synonymous_variant	1242/4583	1011/2844	337/947	L	ctA/ctT		1		-1	MAP3K14	HGNC	HGNC:6853	protein_coding	YES	CCDS74079.1	ENSP00000482657	Q99558		UPI0000074220				4/15		hmmpanther:PTHR24361:SF226,hmmpanther:PTHR24361,PIRSF_domain:PIRSF038175																	LOW	1	SNV	1			1										PASS		rs1346051042	.												A	2	1	14	45286572	45286572	T	A	1	0	0	0	0	0	0	0	1	9170	1509	53	4		4	MAP3K14	17	45286572	Silent	SNP	T	C3L-00279_TP	509321	45286572	37970869	541	6616											
HOXB1	0	.	GRCh38	chr17	48530502	48530502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgctgcggaggatatggccCcggaccggctccacctgctc	6	7	13	15	3	0	0	0	0	0	0	2	3	1	3	5	5	3	3	5	5	1	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.403G>T	p.Gly135Trp	p.G135W	ENST00000239174	1/2	190	170	20	132	132	0	strelka-varscan-mutect	HOXB1,missense_variant,p.Gly135Trp,ENST00000239174,NM_002144.3;HOXB1,missense_variant,p.Gly135Trp,ENST00000577092,;	A	ENST00000239174	Transcript	missense_variant	496/2020	403/906	135/301	G/W	Ggg/Tgg		1		-1	HOXB1	HGNC	HGNC:5111	protein_coding	YES	CCDS32675.1	ENSP00000355140	P14653		UPI0000163BFF	NM_002144.3	deleterious(0.01)		1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF167,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	48530502	48530502	C	A	1	0	0	0	0	1	0	0	0	7193	623	22	2		2	HOXB1	17	48530502	Missense_Mutation	SNP	C	C3L-00279_TP	3243930	48530502	34726939	542	6617											
SEPT4	0	.	GRCh38	chr17	58525145	58525145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgagccgcagcctcacacCcttctcttctatgtccactg	6	11	8	16	1	3	1	1	1	2	0	5	1	4	1	4	1	2	1	4	1	1	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.640G>A	p.Gly214Ser	p.G214S	ENST00000457347	6/13	263	241	22	199	199	0	strelka-varscan-mutect	SEPT4,missense_variant,p.Gly180Ser,ENST00000426861,NM_080415.3;SEPT4,missense_variant,p.Gly214Ser,ENST00000457347,NM_001256782.1;SEPT4,missense_variant,p.Gly199Ser,ENST00000317268,NM_004574.4;SEPT4,missense_variant,p.Gly52Ser,ENST00000583114,NM_001256822.1;SEPT4,missense_variant,p.Gly191Ser,ENST00000412945,NM_001198713.1;SEPT4,missense_variant,p.Gly180Ser,ENST00000393086,;SEPT4,missense_variant,p.Gly180Ser,ENST00000317256,NM_080416.3;SEPT4,missense_variant,p.Gly100Ser,ENST00000580844,;SEPT4,missense_variant,p.Gly100Ser,ENST00000579371,;SEPT4,missense_variant,p.Gly81Ser,ENST00000580809,;SEPT4,missense_variant,p.Gly204Ser,ENST00000583291,;SEPT4,missense_variant,p.Gly105Ser,ENST00000577729,;SEPT4,downstream_gene_variant,,ENST00000581607,;SEPT4-AS1,intron_variant,,ENST00000580589,;SEPT4-AS1,upstream_gene_variant,,ENST00000580769,;SEPT4-AS1,upstream_gene_variant,,ENST00000578022,;SEPT4,downstream_gene_variant,,ENST00000580791,;SEPT4,downstream_gene_variant,,ENST00000584528,;SEPT4,downstream_gene_variant,,ENST00000580740,;SEPT4,downstream_gene_variant,,ENST00000581921,;SEPT4,3_prime_UTR_variant,,ENST00000581615,;SEPT4,3_prime_UTR_variant,,ENST00000578131,;SEPT4,non_coding_transcript_exon_variant,,ENST00000585170,;SEPT4,non_coding_transcript_exon_variant,,ENST00000580796,;SEPT4,non_coding_transcript_exon_variant,,ENST00000582270,;SEPT4,non_coding_transcript_exon_variant,,ENST00000583273,;SEPT4,non_coding_transcript_exon_variant,,ENST00000577440,;SEPT4,non_coding_transcript_exon_variant,,ENST00000584488,;SEPT4,downstream_gene_variant,,ENST00000582976,;SEPT4,downstream_gene_variant,,ENST00000584789,;SEPT4,downstream_gene_variant,,ENST00000582248,;SEPT4,downstream_gene_variant,,ENST00000578747,;	T	ENST00000457347	Transcript	missense_variant	785/1795	640/1482	214/493	G/S	Ggt/Agt		1		-1	SEPT4	HGNC	HGNC:9165	protein_coding	YES	CCDS58582.1	ENSP00000402000	O43236		UPI00017A809C	NM_001256782.1	deleterious(0.01)		6/13		Gene3D:3.40.50.300,Pfam_domain:PF00735,PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF71,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	14	58525145	58525145	C	T	1	0	0	0	0	1	0	0	0	14342	623	22	3		3	SEPT4	17	58525145	Missense_Mutation	SNP	C	C3L-00279_TP	9994643	58525145	24732296	543	6618											
ACE	0	.	GRCh38	chr17	63479804	63479804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttcctcgcgaagctacGccatgctcctgtttgcctgg	4	12	11	14	3	0	0	0	0	0	0	3	1	2	0	4	2	4	4	4	2	2	3	rs12720754		C3L-00279_TP	C3L-00279_NB	G	G																c.547G>T	p.Ala183Ser	p.A183S	ENST00000290866	4/25	578	504	74	474	474	0	strelka-varscan-mutect	ACE,missense_variant,p.Ala183Ser,ENST00000428043,;ACE,missense_variant,p.Ala183Ser,ENST00000290866,NM_000789.3;ACE,missense_variant,p.Ala183Ser,ENST00000582627,;ACE,non_coding_transcript_exon_variant,,ENST00000584529,;ACE,downstream_gene_variant,,ENST00000583336,;ACE,synonymous_variant,p.=,ENST00000582678,;ACE,non_coding_transcript_exon_variant,,ENST00000580318,;ACE,upstream_gene_variant,,ENST00000579726,;ACE,downstream_gene_variant,,ENST00000579462,;	T	ENST00000290866	Transcript	missense_variant	571/4959	547/3921	183/1306	A/S	Gcc/Tcc	rs12720754	1		1	ACE	HGNC	HGNC:2707	protein_coding	YES	CCDS11637.1	ENSP00000290866	P12821		UPI000002B8AD	NM_000789.3	tolerated(0.25)		4/25		Pfam_domain:PF01401,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		rs12720754	.												T	3	4	14	63479804	63479804	G	T	1	0	0	0	0	1	0	0	0	174	1087	38	1		1	ACE	17	63479804	Missense_Mutation	SNP	G	C3L-00279_TP	4954659	63479804	19777637	544	6619											
CSHL1	0	.	GRCh38	chr17	63910878	63910878	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagcctcttgaagccaGggcaggcagagcagggcaaa	12	3	14	12	0	1	2	0	1	1	1	1	2	1	2	3	3	3	5	3	3	2	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.57C>A	p.=	p.P19P	ENST00000309894	2/5	635	555	80	546	546	0	varscan-mutect	CSHL1,synonymous_variant,p.=,ENST00000392824,;CSHL1,synonymous_variant,p.=,ENST00000611417,;CSHL1,synonymous_variant,p.=,ENST00000259003,NM_001321068.1;CSHL1,synonymous_variant,p.=,ENST00000309894,NM_022581.1,NM_022579.1;CSHL1,intron_variant,,ENST00000450719,;CSHL1,intron_variant,,ENST00000561003,;CSHL1,intron_variant,,ENST00000346606,NM_001318.2;CSHL1,intron_variant,,ENST00000438387,NM_022580.1;CSHL1,non_coding_transcript_exon_variant,,ENST00000558099,;CSHL1,non_coding_transcript_exon_variant,,ENST00000560999,;CSHL1,non_coding_transcript_exon_variant,,ENST00000558609,;	T	ENST00000309894	Transcript	synonymous_variant	57/669	57/669	19/222	P	ccC/ccA		1		-1	CSHL1	HGNC	HGNC:2442	protein_coding	YES	CCDS11652.1	ENSP00000309524	Q14406		UPI00001602B9	NM_022581.1,NM_022579.1			2/5		Pfam_domain:PF00103,hmmpanther:PTHR11417,hmmpanther:PTHR11417:SF40,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	14	63910878	63910878	G	T	1	0	0	0	0	0	0	0	1	3743	987	35	2		2	CSHL1	17	63910878	Silent	SNP	G	C3L-00279_TP	431074	63910878	19346563	545	6620											
TTYH2	0	.	GRCh38	chr17	74215687	74215687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggaagtctggctctgggtGttatttaaggtggctcctgt	5	14	14	8	1	2	0	0	0	2	0	3	1	3	1	2	5	0	3	2	5	3	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.41G>T	p.Cys14Phe	p.C14F	ENST00000529107	1/14	250	231	19	224	224	0	strelka-varscan-mutect	TTYH2,missense_variant,p.Cys14Phe,ENST00000529107,;TTYH2,intron_variant,,ENST00000269346,NM_032646.5;MGC16275,upstream_gene_variant,,ENST00000499670,;MGC16275,upstream_gene_variant,,ENST00000532794,;MGC16275,upstream_gene_variant,,ENST00000531617,;	T	ENST00000529107	Transcript	missense_variant	72/2015	41/1542	14/513	C/F	tGt/tTt		1		1	TTYH2	HGNC	HGNC:13877	protein_coding			ENSP00000433089		B4DKD1	UPI00017A761E		deleterious_low_confidence(0)		1/14																			MODERATE		SNV	2			1										PASS		rs1216533687	.												T	3	4	14	74215687	74215687	G	T	1	0	0	0	0	1	0	0	0	17250	1377	48	2		2	TTYH2	17	74215687	Missense_Mutation	SNP	G	C3L-00279_TP	10304809	74215687	9041754	546	6621											
BTBD17	0	.	GRCh38	chr17	74360099	74360099	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgggcgtggaatacccGgacctcatcggtgcccgcag	6	6	16	13	5	1	0	1	0	0	0	2	2	1	2	3	5	2	1	3	5	2	1	rs775484462		C3L-00279_TP	C3L-00279_NB	G	G																c.232C>A	p.=	p.R78R	ENST00000375366	2/3	393	340	53	329	329	0	strelka-varscan-mutect	BTBD17,synonymous_variant,p.=,ENST00000375366,NM_001080466.1;KIF19,downstream_gene_variant,,ENST00000389916,NM_153209.3;	T	ENST00000375366	Transcript	synonymous_variant	359/1805	232/1437	78/478	R	Cgg/Agg	rs775484462,COSM370788	1		-1	BTBD17	HGNC	HGNC:33758	protein_coding	YES	CCDS32719.1	ENSP00000364515	A6NE02		UPI00001D7961	NM_001080466.1			2/3		PROSITE_profiles:PS50097,hmmpanther:PTHR24410:SF12,hmmpanther:PTHR24410,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695											0,1						LOW	1	SNV	2		0,1	1										PASS		rs775484462	.												T	2	4	14	74360099	74360099	G	T	1	0	0	0	0	0	0	0	1	1716	1115	39	1		1	BTBD17	17	74360099	Silent	SNP	G	C3L-00279_TP	144412	74360099	8897342	547	6622											
RECQL5	0	.	GRCh38	chr17	75661681	75661681	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaagcctctctagtccTgcagtacacaatgccgcagc	10	9	7	15	1	2	0	1	0	1	0	4	0	3	0	3	0	5	3	3	0	4	3	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.799A>T	p.Arg267Trp	p.R267W	ENST00000317905	5/20	208	186	22	218	218	0	strelka-varscan-mutect	RECQL5,missense_variant,p.Arg267Trp,ENST00000420326,NM_001003716.3;RECQL5,missense_variant,p.Arg267Trp,ENST00000317905,NM_004259.6;RECQL5,missense_variant,p.Arg240Trp,ENST00000423245,;RECQL5,missense_variant,p.Arg267Trp,ENST00000578201,;RECQL5,missense_variant,p.Arg267Trp,ENST00000584999,;RECQL5,missense_variant,p.Arg267Trp,ENST00000340830,NM_001003715.3;RECQL5,intron_variant,,ENST00000580078,;RECQL5,upstream_gene_variant,,ENST00000579274,;RECQL5,upstream_gene_variant,,ENST00000582464,;	A	ENST00000317905	Transcript	missense_variant	959/3704	799/2976	267/991	R/W	Agg/Tgg		1		-1	RECQL5	HGNC	HGNC:9950	protein_coding	YES	CCDS42380.1	ENSP00000317636	O94762	A0A024R8M9	UPI0000133477	NM_004259.6	deleterious(0)		5/20		Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF85,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00614																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	75661681	75661681	T	A	1	0	0	0	0	1	0	0	0	13373	1579	55	4		4	RECQL5	17	75661681	Missense_Mutation	SNP	T	C3L-00279_TP	1301582	75661681	7595760	548	6623											
RNF157	0	.	GRCh38	chr17	76159517	76159517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggacggggtgaggggcccGttgagggcctccagaagaga	8	4	21	8	2	0	4	0	2	0	2	1	6	1	5	3	7	0	1	3	7	1	1	rs753352670		C3L-00279_TP	C3L-00279_NB	G	G																c.1122C>A	p.Asn374Lys	p.N374K	ENST00000269391	12/19	128	114	14	110	110	0	strelka-varscan-mutect	RNF157,missense_variant,p.Asn374Lys,ENST00000269391,NM_052916.2;RNF157,missense_variant,p.Asn374Lys,ENST00000319945,;RNF157,downstream_gene_variant,,ENST00000591615,;RNF157,upstream_gene_variant,,ENST00000591355,;RP11-449J21.5,downstream_gene_variant,,ENST00000586661,;RP11-449J21.5,downstream_gene_variant,,ENST00000592748,;RNF157,upstream_gene_variant,,ENST00000592869,;RNF157,downstream_gene_variant,,ENST00000593155,;	T	ENST00000269391	Transcript	missense_variant	1255/4955	1122/2040	374/679	N/K	aaC/aaA	rs753352670,COSM5519512,COSM5519513	1		-1	RNF157	HGNC	HGNC:29402	protein_coding	YES	CCDS32740.1	ENSP00000269391	Q96PX1		UPI00001C1FDD	NM_052916.2	deleterious(0)		12/19		hmmpanther:PTHR22996:SF1,hmmpanther:PTHR22996											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs753352670	.												T	3	4	14	76159517	76159517	G	T	1	0	0	0	0	1	0	0	0	13632	1136	40	1		1	RNF157	17	76159517	Missense_Mutation	SNP	G	C3L-00279_TP	497836	76159517	7097924	549	6624											
JMJD6	0	.	GRCh38	chr17	76720483	76720483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggactgccaactcggggtgCtcttgcttcaaaatcctgag	9	10	11	11	1	2	1	1	1	1	0	4	2	3	2	2	3	4	2	2	3	3	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.957G>A	p.=	p.E319E	ENST00000445478	5/7	206	175	31	182	182	0	strelka-varscan-mutect	JMJD6,missense_variant,p.Ala351Thr,ENST00000617192,;JMJD6,synonymous_variant,p.=,ENST00000445478,NM_001081461.1;JMJD6,synonymous_variant,p.=,ENST00000397625,NM_015167.2;JMJD6,intron_variant,,ENST00000585429,;uc_338,downstream_gene_variant,,ENST00000613268,;JMJD6,missense_variant,p.Ala351Thr,ENST00000542934,;JMJD6,3_prime_UTR_variant,,ENST00000303996,;JMJD6,non_coding_transcript_exon_variant,,ENST00000591460,;JMJD6,non_coding_transcript_exon_variant,,ENST00000589982,;	T	ENST00000445478	Transcript	synonymous_variant	1161/5303	957/1245	319/414	E	gaG/gaA		1		-1	JMJD6	HGNC	HGNC:19355	protein_coding	YES	CCDS42383.1	ENSP00000394085	Q6NYC1		UPI00003DFD0B	NM_001081461.1			5/7		hmmpanther:PTHR12480,hmmpanther:PTHR12480:SF5,Superfamily_domains:SSF51197																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	76720483	76720483	C	T	1	0	0	0	0	0	0	0	1	7866	797	28	3		3	JMJD6	17	76720483	Silent	SNP	C	C3L-00279_TP	560966	76720483	6536958	550	6625											
TMC6	0	.	GRCh38	chr17	78119359	78119359	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaatgtcaaactccggcttCcgcctcctcttcagcttctt	6	13	6	16	2	4	0	2	0	2	0	7	0	7	0	4	1	2	3	4	1	2	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1749G>T	p.=	p.R583R	ENST00000590602	14/20	653	574	79	559	558	1	strelka-varscan-mutect	TMC6,synonymous_variant,p.=,ENST00000590602,NM_001127198.1;TMC6,synonymous_variant,p.=,ENST00000392467,;TMC6,synonymous_variant,p.=,ENST00000322914,NM_007267.6;TMC6,synonymous_variant,p.=,ENST00000591436,;TMC6,intron_variant,,ENST00000306591,;TMC6,downstream_gene_variant,,ENST00000589553,;TMC6,non_coding_transcript_exon_variant,,ENST00000590934,;TMC6,intron_variant,,ENST00000592076,;TMC6,non_coding_transcript_exon_variant,,ENST00000593044,;TMC6,non_coding_transcript_exon_variant,,ENST00000591756,;TMC6,downstream_gene_variant,,ENST00000588087,;TMC6,downstream_gene_variant,,ENST00000586271,;TMC6,upstream_gene_variant,,ENST00000589933,;TMC6,downstream_gene_variant,,ENST00000585849,;	A	ENST00000590602	Transcript	synonymous_variant	1909/5268	1749/2418	583/805	R	cgG/cgT		1		-1	TMC6	HGNC	HGNC:18021	protein_coding	YES	CCDS32748.1	ENSP00000465261	Q7Z403	A0A024R8V2	UPI000013D819	NM_001127198.1			14/20		hmmpanther:PTHR23302:SF4,hmmpanther:PTHR23302,Pfam_domain:PF07810																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	14	78119359	78119359	C	A	1	0	0	0	0	0	0	0	1	16435	842	30	2		2	TMC6	17	78119359	Silent	SNP	C	C3L-00279_TP	1398876	78119359	5138082	551	6626											
CBX2	0	.	GRCh38	chr17	79784868	79784868	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgaccccgactccgcctcGccgcccagcactggacagaa	8	4	9	20	5	0	1	0	0	0	1	3	4	2	2	7	1	1	1	7	1	1	0	rs202081500		C3L-00279_TP	C3L-00279_NB	G	G																c.1425G>T	p.=	p.S475S	ENST00000310942	5/5	330	289	41	252	252	0	strelka-varscan-mutect	CBX2,synonymous_variant,p.=,ENST00000310942,NM_005189.2;CBX2,downstream_gene_variant,,ENST00000269399,NM_032647.3;	T	ENST00000310942	Transcript	synonymous_variant	1529/4644	1425/1599	475/532	S	tcG/tcT	rs202081500,COSM2802782	1		1	CBX2	HGNC	HGNC:1552	protein_coding	YES	CCDS32757.1	ENSP00000308750	Q14781		UPI000004C4E1	NM_005189.2			5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR22812,hmmpanther:PTHR22812:SF98											0,1						LOW	1	SNV	2		0,1	1										PASS		rs202081500	.												T	2	4	14	79784868	79784868	G	T	1	0	0	0	0	0	0	0	1	2418	1074	38	1		1	CBX2	17	79784868	Silent	SNP	G	C3L-00279_TP	1665509	79784868	3472573	552	6627											
PIEZO2	0	.	GRCh38	chr18	10705738	10705738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacagcatggtacactgcGtgggctcgctgttgggagaa	9	9	15	8	2	0	1	0	0	0	1	1	2	0	1	0	3	4	6	0	3	3	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.5258C>G	p.Thr1753Arg	p.T1753R	ENST00000503781	37/52	89	74	15	101	101	0	strelka-varscan-mutect	PIEZO2,missense_variant,p.Thr1704Arg,ENST00000383408,;PIEZO2,missense_variant,p.Thr1753Arg,ENST00000302079,;PIEZO2,missense_variant,p.Thr1778Arg,ENST00000580640,;PIEZO2,missense_variant,p.Thr1753Arg,ENST00000503781,NM_022068.3;PIEZO2,upstream_gene_variant,,ENST00000538948,;RP11-856M7.2,intron_variant,,ENST00000584167,;PIEZO2,3_prime_UTR_variant,,ENST00000582913,;	C	ENST00000503781	Transcript	missense_variant	5258/8259	5258/8259	1753/2752	T/R	aCg/aGg		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3	tolerated(0.06)		37/52																			MODERATE	1	SNV	1			1										PASS		rs1250272856	.												C	3	2	14	10705738	10705738	G	C	1	0	0	0	0	1	0	0	0	11975	1145	40	4		4	PIEZO2	18	10705738	Missense_Mutation	SNP	G	C3L-00279_TP		10705738	69667547	553	6628											
GREB1L	0	.	GRCh38	chr18	21449617	21449617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agataggtgctcagtgtgtcCctgtgtcaccaggacaactc	9	10	11	11	0	2	1	2	0	0	1	4	2	3	2	2	2	2	1	2	2	2	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1501C>T	p.Pro501Ser	p.P501S	ENST00000580732	12/33	300	259	41	284	284	0	strelka-varscan-mutect	GREB1L,missense_variant,p.Pro501Ser,ENST00000580732,;GREB1L,missense_variant,p.Pro501Ser,ENST00000424526,NM_001142966.1;GREB1L,intron_variant,,ENST00000269218,;GREB1L,upstream_gene_variant,,ENST00000581327,;SNORD23,downstream_gene_variant,,ENST00000408212,;RP11-296E23.1,intron_variant,,ENST00000584611,;GREB1L,non_coding_transcript_exon_variant,,ENST00000578368,;GREB1L,non_coding_transcript_exon_variant,,ENST00000584446,;GREB1L,upstream_gene_variant,,ENST00000578955,;GREB1L,upstream_gene_variant,,ENST00000580683,;	T	ENST00000580732	Transcript	missense_variant	1882/8749	1501/5772	501/1923	P/S	Cct/Tct		1		1	GREB1L	HGNC	HGNC:31042	protein_coding	YES	CCDS45836.1	ENSP00000464162	Q9C091		UPI0001642876		tolerated(0.22)		12/33		Pfam_domain:PF15782,hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF12																	MODERATE		SNV	5			1										PASS		rs1480242087	.												T	3	4	14	21449617	21449617	C	T	1	0	0	0	0	1	0	0	0	6640	623	22	3		3	GREB1L	18	21449617	Missense_Mutation	SNP	C	C3L-00279_TP	10743879	21449617	58923668	554	6629											
ZNF521	0	.	GRCh38	chr18	25322188	25322188	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagtttacagttggggtCtgaaaaatatcaacactgta	14	13	8	6	0	3	1	2	1	1	0	3	1	3	1	0	2	2	3	0	2	7	6	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.41-1G>T		p.X14_splice	ENST00000361524		239	193	46	162	161	1	strelka-varscan-mutect	ZNF521,splice_acceptor_variant,,ENST00000361524,NM_015461.2;ZNF521,splice_acceptor_variant,,ENST00000584787,NM_001308225.1;ZNF521,splice_acceptor_variant,,ENST00000538137,;ZNF521,splice_acceptor_variant,,ENST00000577801,;ZNF521,splice_acceptor_variant,,ENST00000580488,;ZNF521,splice_acceptor_variant,,ENST00000577461,;ZNF521,splice_acceptor_variant,,ENST00000579111,;ZNF521,splice_acceptor_variant,,ENST00000582584,;ZNF521,splice_acceptor_variant,,ENST00000583005,;ZNF521,splice_acceptor_variant,,ENST00000399425,;ZNF521,non_coding_transcript_exon_variant,,ENST00000583398,;	A	ENST00000361524	Transcript	splice_acceptor_variant	-/4871	41/3936	14/1311				1		-1	ZNF521	HGNC	HGNC:24605	protein_coding	YES	CCDS32806.1	ENSP00000354794	Q96K83		UPI000006F982	NM_015461.2				2/7																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	14	25322188	25322188	C	A	1	0	0	0	0	0	0	1	0	18537	927	32	2		2	ZNF521	18	25322188	Splice_Site	SNP	C	C3L-00279_TP	3872571	25322188	55051097	555	6630											
SS18	0	.	GRCh38	chr18	26038555	26038555	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacatcaggagagattacCatcagggtaatattgctggt	13	12	10	6	0	2	1	2	0	0	1	2	3	2	2	1	3	3	2	1	3	4	5	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.880G>T	p.Gly294Cys	p.G294C	ENST00000415083	7/11	182	158	24	130	130	0	strelka-varscan-mutect	SS18,stop_gained,p.Gly294Ter,ENST00000269137,NM_005637.2;SS18,missense_variant,p.Gly294Cys,ENST00000415083,NM_001007559.1;SS18,missense_variant,p.Gly271Cys,ENST00000542420,NM_001308201.1;SS18,downstream_gene_variant,,ENST00000585241,;SS18,upstream_gene_variant,,ENST00000582092,;SS18,splice_region_variant,,ENST00000579640,;SS18,splice_region_variant,,ENST00000269138,;SS18,splice_region_variant,,ENST00000585121,;SS18,splice_region_variant,,ENST00000539244,;SS18,upstream_gene_variant,,ENST00000580958,;	A	ENST00000415083	Transcript	missense_variant,splice_region_variant	936/3414	880/1257	294/418	G/C	Ggt/Tgt		1		-1	SS18	HGNC	HGNC:11340	protein_coding	YES	CCDS32807.1	ENSP00000414516	Q15532	A0A024RC40	UPI0000136056	NM_001007559.1	deleterious_low_confidence(0.01)		7/11		hmmpanther:PTHR23107,hmmpanther:PTHR23107:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	26038555	26038555	C	A	1	0	0	0	0	1	0	0	0	15549	608	21	2		2	SS18	18	26038555	Missense_Mutation	SNP	C	C3L-00279_TP	716367	26038555	54334730	556	6631											
DSG3	0	.	GRCh38	chr18	31475954	31475954	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagacaggatttgttaagtgCcagactttgtcaggaagtca	12	11	11	7	0	2	2	2	0	0	2	2	4	2	4	1	2	1	1	1	2	2	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2694C>G	p.Cys898Trp	p.C898W	ENST00000257189	16/16	400	351	49	329	329	0	strelka-varscan-mutect	DSG3,missense_variant,p.Cys898Trp,ENST00000257189,NM_001944.2;	G	ENST00000257189	Transcript	missense_variant	2777/5525	2694/3000	898/999	C/W	tgC/tgG		1		1	DSG3	HGNC	HGNC:3050	protein_coding	YES	CCDS11898.1	ENSP00000257189	P32926		UPI000013CF4B	NM_001944.2	tolerated(0.18)		16/16		hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	31475954	31475954	C	G	1	0	0	0	0	1	0	0	0	4599	747	26	4		4	DSG3	18	31475954	Missense_Mutation	SNP	C	C3L-00279_TP	5437399	31475954	48897331	557	6632											
ASXL3	0	.	GRCh38	chr18	33739545	33739545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccaacttacctttaacatCagaaacctcaccgatgtctg	13	11	4	13	1	3	1	2	0	1	1	4	2	4	1	4	0	4	0	4	0	4	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2141C>T	p.Ser714Leu	p.S714L	ENST00000269197	11/12	273	250	23	81	81	0	strelka-varscan-mutect	ASXL3,missense_variant,p.Ser714Leu,ENST00000269197,NM_030632.1;ASXL3,3_prime_UTR_variant,,ENST00000592288,;	T	ENST00000269197	Transcript	missense_variant	2196/11399	2141/6747	714/2248	S/L	tCa/tTa		1		1	ASXL3	HGNC	HGNC:29357	protein_coding	YES	CCDS45847.1	ENSP00000269197	Q9C0F0		UPI000156D0F3	NM_030632.1	deleterious_low_confidence(0)		11/12		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	33739545	33739545	C	T	1	0	0	0	0	1	0	0	0	1216	838	29	3		3	ASXL3	18	33739545	Missense_Mutation	SNP	C	C3L-00279_TP	2263591	33739545	46633740	558	6633											
SETBP1	0	.	GRCh38	chr18	44952262	44952262	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatctcccaccggagttaCaccttctaccacgagaatcc	12	8	6	15	2	2	2	0	0	2	2	4	4	3	3	5	1	2	1	5	1	4	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2922C>A	p.Tyr974Ter	p.Y974*	ENST00000282030	4/6	793	717	76	623	623	0	strelka-varscan-mutect	SETBP1,stop_gained,p.Tyr974Ter,ENST00000282030,NM_015559.2;	A	ENST00000282030	Transcript	stop_gained	3218/9899	2922/4791	974/1596	Y/*	taC/taA		1		1	SETBP1	HGNC	HGNC:15573	protein_coding	YES	CCDS11923.2	ENSP00000282030	Q9Y6X0		UPI0000201C54	NM_015559.2			4/6		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF342																	HIGH	1	SNV	1			1										PASS		rs1311498327	.												A	4	1	14	44952262	44952262	C	A	1	0	0	0	0	0	1	0	0	14406	489	17	2		2	SETBP1	18	44952262	Nonsense_Mutation	SNP	C	C3L-00279_TP	11212717	44952262	35421023	559	6634											
ST8SIA5	0	.	GRCh38	chr18	46680409	46680409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacgcggatggacacgtcgGtgttgcgcgtgttgtagaag	7	10	17	7	6	0	2	0	1	0	1	1	4	0	4	0	3	1	3	0	3	2	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.872C>A	p.Thr291Asn	p.T291N	ENST00000538168	8/8	289	253	36	349	349	0	strelka-varscan-mutect	ST8SIA5,missense_variant,p.Thr291Asn,ENST00000538168,NM_001307986.1;ST8SIA5,missense_variant,p.Thr255Asn,ENST00000315087,NM_013305.4;ST8SIA5,missense_variant,p.Thr224Asn,ENST00000536490,NM_001307987.1;ST8SIA5,non_coding_transcript_exon_variant,,ENST00000590497,;ST8SIA5,non_coding_transcript_exon_variant,,ENST00000587428,;	T	ENST00000538168	Transcript	missense_variant	1173/13761	872/1239	291/412	T/N	aCc/aAc		1		-1	ST8SIA5	HGNC	HGNC:17827	protein_coding	YES	CCDS77184.1	ENSP00000445492	O15466		UPI0000E03E3B	NM_001307986.1			8/8		hmmpanther:PTHR11987:SF4,hmmpanther:PTHR11987,PIRSF_domain:PIRSF005557,Pfam_domain:PF00777																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	14	46680409	46680409	G	T	1	0	0	0	0	1	0	0	0	15613	1261	44	2		2	ST8SIA5	18	46680409	Missense_Mutation	SNP	G	C3L-00279_TP	1728147	46680409	33692876	560	6635											
PIAS2	0	.	GRCh38	chr18	46855371	46855371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaaatagcttcccatttaCttttatacatagactatttg	13	16	5	7	0	0	1	0	0	0	1	1	2	1	2	1	1	3	1	1	1	7	10	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.700G>A	p.Val234Ile	p.V234I	ENST00000585916	5/14	67	62	5	32	32	0	strelka-mutect	PIAS2,missense_variant,p.Val234Ile,ENST00000585916,NM_001324049.1,NM_001324048.1,NM_001324047.1,NM_004671.3;PIAS2,missense_variant,p.Val234Ile,ENST00000324794,NM_001324051.1,NM_001324054.1,NM_173206.3;PIAS2,missense_variant,p.Val263Ile,ENST00000592212,;PIAS2,5_prime_UTR_variant,,ENST00000545673,;PIAS2,3_prime_UTR_variant,,ENST00000398654,;PIAS2,non_coding_transcript_exon_variant,,ENST00000590127,;PIAS2,non_coding_transcript_exon_variant,,ENST00000592011,;PIAS2,non_coding_transcript_exon_variant,,ENST00000589819,;RP11-687F6.4,upstream_gene_variant,,ENST00000587732,;	T	ENST00000585916	Transcript	missense_variant	700/11075	700/1866	234/621	V/I	Gta/Ata		1		-1	PIAS2	HGNC	HGNC:17311	protein_coding	YES	CCDS32824.1	ENSP00000465676	O75928		UPI0000201CB9	NM_001324049.1,NM_001324048.1,NM_001324047.1,NM_004671.3	tolerated(0.05)		5/14		Pfam_domain:PF14324,PROSITE_profiles:PS51466,hmmpanther:PTHR10782,hmmpanther:PTHR10782:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	46855371	46855371	C	T	1	0	0	0	0	1	0	0	0	11966	565	20	3		3	PIAS2	18	46855371	Missense_Mutation	SNP	C	C3L-00279_TP	174962	46855371	33517914	561	6636											
MISP	0	.	GRCh38	chr19	757489	757489	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcggtccacgcccctGgaggagaacgtggttgacag	8	6	13	14	3	0	2	0	1	0	1	2	4	1	3	5	4	1	1	5	4	1	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.543G>T	p.=	p.L181L	ENST00000215582	2/5	250	198	52	280	280	0	strelka-varscan-mutect	MISP,synonymous_variant,p.=,ENST00000215582,NM_173481.2;MISP,upstream_gene_variant,,ENST00000614180,;	T	ENST00000215582	Transcript	synonymous_variant	646/2871	543/2040	181/679	L	ctG/ctT		1		1	MISP	HGNC	HGNC:27000	protein_coding	YES	CCDS12042.1	ENSP00000215582	Q8IVT2		UPI00000745CD	NM_173481.2			2/5		hmmpanther:PTHR18839,hmmpanther:PTHR18839:SF3																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	757489	757489	G	T	1	0	0	0	0	0	0	0	1	9562	1335	47	2		2	MISP	19	757489	Silent	SNP	G	C3L-00279_TP		757489	57860127	562	6637											
SAFB2	0	.	GRCh38	chr19	5587891	5587907	+	Frame_Shift_Del	DEL	CTAGCCGCGCCTGCGTC	CTAGCCGCGCCTGCGTC	-																															gccacctggcgtgctcccggCtagccgcgcctgcgtccatg																								novel		C3L-00279_TP	C3L-00279_NB	CTAGCCGCGCCTGCGTC	CTAGCCGCGCCTGCGTC																c.2599_2615delGACGCAGGCGCGGCTAG	p.Asp867ProfsTer97	p.D867Pfs*97	ENST00000252542	19/21	160	144	16	169	169	0	sindel-varindel-pindel	SAFB2,frameshift_variant,p.Asp867ProfsTer97,ENST00000252542,NM_014649.2;SAFB2,non_coding_transcript_exon_variant,,ENST00000587802,;SAFB2,non_coding_transcript_exon_variant,,ENST00000589925,;SAFB2,downstream_gene_variant,,ENST00000590000,;	-	ENST00000252542	Transcript	frameshift_variant	2864-2880/3371	2599-2615/2862	867-872/953	DAGAAS/X	GACGCAGGCGCGGCTAGc/c		1		-1	SAFB2	HGNC	HGNC:21605	protein_coding	YES	CCDS32879.1	ENSP00000252542	Q14151		UPI0000071DB7	NM_014649.2			19/21		hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF4																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	14	5587891	5587891	CTAGCCGCGCCTGCGTC	-	1	0	1	0	1	0	0	0	0	14066	797	28	0		0	SAFB2	19	5587891	Frame_Shift_Del	DEL	CTAGCCGCGCCTGCGTC	C3L-00279_TP	4830402	5587891	53029725	563	6638											
ACER1	0	.	GRCh38	chr19	6306762	6306762	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacgtagggcagccccacGggccaactgtcccgaggcca	8	4	12	17	3	0	0	0	0	0	0	2	1	2	0	6	3	2	2	6	3	2	1	rs368149486		C3L-00279_TP	C3L-00279_NB	G	G																c.747C>A	p.=	p.P249P	ENST00000301452	6/6	92	77	15	88	88	0	strelka-varscan-mutect	ACER1,synonymous_variant,p.=,ENST00000301452,NM_133492.2;	T	ENST00000301452	Transcript	synonymous_variant	825/1445	747/795	249/264	P	ccC/ccA	rs368149486	1		-1	ACER1	HGNC	HGNC:18356	protein_coding	YES	CCDS12161.1	ENSP00000301452	Q8TDN7		UPI000003FD52	NM_133492.2			6/6		Pfam_domain:PF05875,hmmpanther:PTHR12956,hmmpanther:PTHR12956:SF18																	LOW	1	SNV	1			1										PASS		rs368149486	.												T	2	4	14	6306762	6306762	G	T	1	0	0	0	0	0	0	0	1	176	1103	39	1		1	ACER1	19	6306762	Silent	SNP	G	C3L-00279_TP	718871	6306762	52310854	564	6639											
DENND1C	0	.	GRCh38	chr19	6479895	6479895	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagggaactgccgcaggatGgggggatctgtagaagagag	11	5	20	5	1	1	2	0	0	1	2	1	7	1	6	1	6	2	2	1	6	3	1	rs757060526,rs770533838		C3L-00279_TP	C3L-00279_NB	G	G																c.90C>A	p.=	p.P30P	ENST00000381480	3/23	218	192	26	210	210	0	strelka-varscan-mutect	DENND1C,synonymous_variant,p.=,ENST00000381480,NM_024898.3;DENND1C,5_prime_UTR_variant,,ENST00000590173,;DENND1C,5_prime_UTR_variant,,ENST00000590473,;DENND1C,5_prime_UTR_variant,,ENST00000588421,;DENND1C,intron_variant,,ENST00000543576,NM_001290331.1;DENND1C,non_coding_transcript_exon_variant,,ENST00000591030,;DENND1C,missense_variant,p.Pro10Gln,ENST00000586046,;DENND1C,5_prime_UTR_variant,,ENST00000590867,;DENND1C,non_coding_transcript_exon_variant,,ENST00000592543,;DENND1C,upstream_gene_variant,,ENST00000590444,;DENND1C,upstream_gene_variant,,ENST00000590818,;DENND1C,upstream_gene_variant,,ENST00000589491,;DENND1C,upstream_gene_variant,,ENST00000588988,;	T	ENST00000381480	Transcript	synonymous_variant	203/2816	90/2406	30/801	P	ccC/ccA	rs757060526,rs770533838,COSM2727724,COSM2727725	1		-1	DENND1C	HGNC	HGNC:26225	protein_coding	YES	CCDS45938.1	ENSP00000370889	Q8IV53		UPI000007469C	NM_024898.3			3/23		Pfam_domain:PF03456,PROSITE_profiles:PS50946,hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF25,SMART_domains:SM00800											0,0,1,1						LOW	1	SNV	1		0,0,1,1	1										PASS		rs770533838	.												T	2	4	14	6479895	6479895	G	T	1	0	0	0	0	0	0	0	1	4232	1335	47	2		2	DENND1C	19	6479895	Silent	SNP	G	C3L-00279_TP	173133	6479895	52137721	565	6640											
ELAVL1	0	.	GRCh38	chr19	7963720	7963720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatcctgccccaggttgtaGatgaaaatgcaccagccgga	11	7	11	12	1	0	2	0	1	0	1	1	3	1	3	5	2	3	4	5	2	3	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.744C>G	p.Ile248Met	p.I248M	ENST00000407627	6/6	387	345	42	405	405	0	strelka-varscan-mutect	ELAVL1,missense_variant,p.Ile248Met,ENST00000407627,NM_001419.2;ELAVL1,missense_variant,p.Ile248Met,ENST00000596459,;ELAVL1,3_prime_UTR_variant,,ENST00000593807,;ELAVL1,intron_variant,,ENST00000596154,;CTD-3193O13.14,downstream_gene_variant,,ENST00000595107,;	C	ENST00000407627	Transcript	missense_variant	874/6015	744/981	248/326	I/M	atC/atG		1		-1	ELAVL1	HGNC	HGNC:3312	protein_coding	YES	CCDS12193.1	ENSP00000385269	Q15717		UPI0000129E74	NM_001419.2	deleterious(0.01)		6/6		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF351,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	14	7963720	7963720	G	C	1	0	0	0	0	1	0	0	0	4882	932	33	4		4	ELAVL1	19	7963720	Missense_Mutation	SNP	G	C3L-00279_TP	1483825	7963720	50653896	566	6641											
ADAMTS10	0	.	GRCh38	chr19	8586680	8586680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggggctggggggtcccagGcagcccctccagcagcaggg	5	4	19	13	0	0	0	0	0	0	0	2	0	2	0	4	7	3	4	4	7	0	0			C3L-00279_TP	C3L-00279_NB	G	G																c.2281C>A	p.Pro761Thr	p.P761T	ENST00000270328	19/25	351	289	62	275	275	0	strelka-varscan-mutect	ADAMTS10,missense_variant,p.Pro761Thr,ENST00000270328,;ADAMTS10,missense_variant,p.Pro761Thr,ENST00000597188,NM_030957.3;ADAMTS10,missense_variant,p.Pro248Thr,ENST00000595838,NM_001282352.1;AC130469.2,downstream_gene_variant,,ENST00000597256,;ADAMTS10,3_prime_UTR_variant,,ENST00000596851,;ADAMTS10,3_prime_UTR_variant,,ENST00000593913,;ADAMTS10,3_prime_UTR_variant,,ENST00000593826,;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000596911,;ADAMTS10,downstream_gene_variant,,ENST00000603221,;ADAMTS10,downstream_gene_variant,,ENST00000596236,;	T	ENST00000270328	Transcript	missense_variant	2512/4194	2281/3312	761/1103	P/T	Cct/Act	COSM1003577	1		-1	ADAMTS10	HGNC	HGNC:13201	protein_coding	YES	CCDS12206.1	ENSP00000270328		A0A0A0MQW6	UPI00025D3090		tolerated(0.23)		19/25		Pfam_domain:PF05986,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF26											1						MODERATE	1	SNV	5		1	1										PASS		rs1314345152	.												T	3	4	14	8586680	8586680	G	T	1	0	0	0	0	1	0	0	0	300	1203	42	2		2	ADAMTS10	19	8586680	Missense_Mutation	SNP	G	C3L-00279_TP	622960	8586680	50030936	567	6642											
ADAMTS10	0	.	GRCh38	chr19	8601050	8601050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaccgatcgcttcaggcCtggctggccacgctctgttt	4	11	12	14	3	2	1	1	1	1	0	3	2	2	1	3	3	0	5	3	3	0	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.688G>T	p.Gly230Cys	p.G230C	ENST00000270328	5/25	448	390	58	474	474	0	strelka-varscan-mutect	ADAMTS10,missense_variant,p.Gly230Cys,ENST00000270328,;ADAMTS10,missense_variant,p.Gly230Cys,ENST00000597188,NM_030957.3;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000596709,;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000596466,;ADAMTS10,missense_variant,p.Gly230Cys,ENST00000596851,;ADAMTS10,missense_variant,p.Gly230Cys,ENST00000593913,;ADAMTS10,upstream_gene_variant,,ENST00000601163,;ADAMTS10,downstream_gene_variant,,ENST00000593534,;ADAMTS10,upstream_gene_variant,,ENST00000601872,;	A	ENST00000270328	Transcript	missense_variant	919/4194	688/3312	230/1103	G/C	Ggc/Tgc		1		-1	ADAMTS10	HGNC	HGNC:13201	protein_coding	YES	CCDS12206.1	ENSP00000270328		A0A0A0MQW6	UPI00025D3090		tolerated(0.21)		5/25		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF26																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	14	8601050	8601050	C	A	1	0	0	0	0	1	0	0	0	300	681	24	2		2	ADAMTS10	19	8601050	Missense_Mutation	SNP	C	C3L-00279_TP	14370	8601050	50016566	568	6643											
MUC16	0	.	GRCh38	chr19	8952436	8952436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggatgttggttctgtctGaattctgctagtctcaaaaa	10	14	11	6	0	4	1	1	1	4	0	5	3	4	3	0	3	1	3	0	3	4	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.24334C>A	p.Gln8112Lys	p.Q8112K	ENST00000397910	3/84	114	91	23	95	94	1	strelka-varscan-mutect	MUC16,missense_variant,p.Gln8112Lys,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	24538/43816	24334/43524	8112/14507	Q/K	Cag/Aag		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	8952436	8952436	G	T	1	0	0	0	0	1	0	0	0	9972	1299	45	2		2	MUC16	19	8952436	Missense_Mutation	SNP	G	C3L-00279_TP	351386	8952436	49665180	569	6644											
MUC16	0	.	GRCh38	chr19	8953910	8953910	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgtttgggttgtgatGgtcatttttgcagattctgt	5	18	13	5	0	2	2	1	1	1	1	2	3	2	3	1	3	1	3	1	3	0	5	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.22860C>A	p.=	p.T7620T	ENST00000397910	3/84	237	207	30	190	189	1	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	synonymous_variant	23064/43816	22860/43524	7620/14507	T	acC/acA		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			LOW	1	SNV	5			1										PASS		rs1407778815	.												T	2	4	14	8953910	8953910	G	T	1	0	0	0	0	0	0	0	1	9972	1335	47	2		2	MUC16	19	8953910	Silent	SNP	G	C3L-00279_TP	1474	8953910	49663706	570	6645											
ZNF560	0	.	GRCh38	chr19	9467938	9467938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgtgtttcaacatttaCagcatggcttgtggagtgag	10	14	12	5	0	1	1	1	1	0	0	1	2	1	2	0	2	3	3	0	2	3	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1009G>T	p.Val337Leu	p.V337L	ENST00000301480	10/10	165	141	24	90	90	0	strelka-varscan-mutect	ZNF560,missense_variant,p.Val337Leu,ENST00000301480,NM_152476.2;ZNF560,downstream_gene_variant,,ENST00000585974,;	A	ENST00000301480	Transcript	missense_variant	1223/2654	1009/2373	337/790	V/L	Gta/Tta		1		-1	ZNF560	HGNC	HGNC:26484	protein_coding	YES	CCDS12214.1	ENSP00000301480	Q96MR9		UPI000013E720	NM_152476.2	tolerated(0.72)		10/10		hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF44,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	9467938	9467938	C	A	1	0	0	0	0	1	0	0	0	18565	478	17	2		2	ZNF560	19	9467938	Missense_Mutation	SNP	C	C3L-00279_TP	514028	9467938	49149678	571	6646											
ZNF560	0	.	GRCh38	chr19	9469660	9469660	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcagtgtgctcaactCttcctcttcctccagccaag	6	13	7	15	0	4	0	1	0	3	0	7	0	7	0	4	1	3	2	4	1	2	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.499G>T	p.Glu167Ter	p.E167*	ENST00000301480	8/10	228	191	37	181	181	0	strelka-varscan-mutect	ZNF560,stop_gained,p.Glu167Ter,ENST00000301480,NM_152476.2;ZNF560,non_coding_transcript_exon_variant,,ENST00000585974,;	A	ENST00000301480	Transcript	stop_gained	713/2654	499/2373	167/790	E/*	Gag/Tag		1		-1	ZNF560	HGNC	HGNC:26484	protein_coding	YES	CCDS12214.1	ENSP00000301480	Q96MR9		UPI000013E720	NM_152476.2			8/10		PROSITE_profiles:PS50805,Low_complexity_(Seg):seg,SMART_domains:SM00349																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	14	9469660	9469660	C	A	1	0	0	0	0	0	1	0	0	18565	922	32	2		2	ZNF560	19	9469660	Nonsense_Mutation	SNP	C	C3L-00279_TP	1722	9469660	49147956	572	6647											
PKN1	0	.	GRCh38	chr19	14443534	14443534	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaacctgagccgcgtggcGggcctggagaagcagttggc	8	5	16	12	3	0	2	0	1	0	1	0	3	0	2	4	4	3	2	4	4	2	1	rs2161287		C3L-00279_TP	C3L-00279_NB	G	G																c.405G>T	p.=	p.A135A	ENST00000342216	3/22	136	118	18	147	146	1	strelka-varscan-mutect	PKN1,synonymous_variant,p.=,ENST00000242783,NM_002741.3;PKN1,synonymous_variant,p.=,ENST00000342216,NM_213560.1;PKN1,synonymous_variant,p.=,ENST00000586557,;PKN1,synonymous_variant,p.=,ENST00000590097,;PKN1,5_prime_UTR_variant,,ENST00000585619,;PKN1,non_coding_transcript_exon_variant,,ENST00000587429,;PKN1,downstream_gene_variant,,ENST00000592794,;PKN1,non_coding_transcript_exon_variant,,ENST00000585839,;	T	ENST00000342216	Transcript	synonymous_variant	436/2960	405/2847	135/948	A	gcG/gcT	rs2161287	1		1	PKN1	HGNC	HGNC:9405	protein_coding	YES	CCDS42514.1	ENSP00000343325	Q16512		UPI0000366D4D	NM_213560.1			3/22		Gene3D:1.10.287.160,Pfam_domain:PF02185,SMART_domains:SM00742,Superfamily_domains:SSF46585																	LOW	1	SNV	2			1										PASS		rs2161287	.												T	2	4	14	14443534	14443534	G	T	1	0	0	0	0	0	0	0	1	12075	1103	39	1		1	PKN1	19	14443534	Silent	SNP	G	C3L-00279_TP	4973874	14443534	44174082	573	6648											
OR10H2	0	.	GRCh38	chr19	15728783	15728783	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctgtgcctctcaccttaTtgtggtcattgtgcactatg	6	15	8	12	0	2	0	2	0	1	0	3	0	2	0	3	1	2	1	3	1	2	4	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.740T>A	p.Ile247Asn	p.I247N	ENST00000305899	1/1	207	178	29	165	165	0	strelka-varscan-mutect	OR10H2,missense_variant,p.Ile247Asn,ENST00000305899,NM_013939.2;	A	ENST00000305899	Transcript	missense_variant	764/1041	740/948	247/315	I/N	aTt/aAt		1		1	OR10H2	HGNC	HGNC:8173	protein_coding	YES	CCDS12333.1	ENSP00000306095	O60403	A0A126GWJ7	UPI000004CA3E	NM_013939.2	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF111,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	14	15728783	15728783	T	A	1	0	0	0	0	1	0	0	0	10983	1493	52	4		4	OR10H2	19	15728783	Missense_Mutation	SNP	T	C3L-00279_TP	1285249	15728783	42888833	574	6649											
ZNF430	0	.	GRCh38	chr19	21057189	21057189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctacagatgtgaagaatGtggcaaaacctttaaccggt	14	9	9	9	1	0	3	0	1	0	2	0	3	0	3	3	2	3	1	3	2	6	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.881G>T	p.Cys294Phe	p.C294F	ENST00000261560	5/5	161	137	24	59	59	0	strelka-varscan-mutect	ZNF430,missense_variant,p.Cys294Phe,ENST00000261560,NM_025189.3,NM_001172671.1;ZNF430,downstream_gene_variant,,ENST00000599548,;ZNF430,upstream_gene_variant,,ENST00000597922,;	T	ENST00000261560	Transcript	missense_variant	1062/3923	881/1713	294/570	C/F	tGt/tTt		1		1	ZNF430	HGNC	HGNC:20808	protein_coding	YES	CCDS32978.1	ENSP00000261560	Q9H8G1		UPI000020389E	NM_025189.3,NM_001172671.1	deleterious(0.01)		5/5		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF131,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	21057189	21057189	G	T	1	0	0	0	0	1	0	0	0	18476	1377	48	2		2	ZNF430	19	21057189	Missense_Mutation	SNP	G	C3L-00279_TP	5328406	21057189	37560427	575	6650											
ZNF536	0	.	GRCh38	chr19	30445493	30445493	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtgttccgcacttaccAccaggtggtcgtgcactccc	5	9	11	16	3	0	0	0	0	0	0	3	0	2	0	5	3	2	3	5	3	1	2	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.1931A>T	p.His644Leu	p.H644L	ENST00000355537	2/5	256	234	22	194	194	0	strelka-varscan-mutect	ZNF536,missense_variant,p.His644Leu,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.His644Leu,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;	T	ENST00000355537	Transcript	missense_variant	2078/4945	1931/3903	644/1300	H/L	cAc/cTc		1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	deleterious(0)		2/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	30445493	30445493	A	T	1	0	0	0	0	1	0	0	0	18547	159	6	4		4	ZNF536	19	30445493	Missense_Mutation	SNP	A	C3L-00279_TP	9388304	30445493	28172123	576	6651											
GPI	0	.	GRCh38	chr19	34381490	34381490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgaaggagtttggaattGaccctcaaaacatgttcgag	14	10	11	6	1	1	2	1	2	0	0	2	5	1	4	1	2	1	2	1	2	5	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.808G>A	p.Asp270Asn	p.D270N	ENST00000415930	9/18	415	362	53	298	298	0	strelka-varscan-mutect	GPI,missense_variant,p.Asp270Asn,ENST00000415930,NM_001184722.1;GPI,missense_variant,p.Asp259Asn,ENST00000356487,NM_000175.3,NM_001289790.1;GPI,missense_variant,p.Asp274Asn,ENST00000588991,NM_001289789.1;GPI,missense_variant,p.Asp259Asn,ENST00000586425,;GPI,downstream_gene_variant,,ENST00000589640,;GPI,downstream_gene_variant,,ENST00000589399,;GPI,downstream_gene_variant,,ENST00000591204,;GPI,downstream_gene_variant,,ENST00000590375,;GPI,downstream_gene_variant,,ENST00000592144,;GPI,downstream_gene_variant,,ENST00000590362,;	A	ENST00000415930	Transcript	missense_variant	978/4000	808/1710	270/569	D/N	Gac/Aac		1		1	GPI	HGNC	HGNC:4458	protein_coding	YES	CCDS54246.1	ENSP00000405573	P06744		UPI00017A6DE4	NM_001184722.1	deleterious_low_confidence(0.04)		9/18		HAMAP:MF_00473,Pfam_domain:PF00342,PROSITE_profiles:PS51463,hmmpanther:PTHR11469,hmmpanther:PTHR11469:SF4,Superfamily_domains:SSF53697																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	14	34381490	34381490	G	A	1	0	0	0	0	1	0	0	0	6513	1290	45	3		3	GPI	19	34381490	Missense_Mutation	SNP	G	C3L-00279_TP	3935997	34381490	24236126	577	6652											
PRODH2	0	.	GRCh38	chr19	35812170	35812170	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagcgccgtcaccttcagCtgcatgaggctggcctcagc	6	8	12	15	2	4	1	4	1	0	0	4	1	4	1	3	2	4	3	3	2	0	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.702G>C	p.Gln234His	p.Q234H	ENST00000301175	4/11	173	151	22	136	136	0	strelka-varscan-mutect	PRODH2,missense_variant,p.Gln234His,ENST00000301175,NM_021232.1;PRODH2,non_coding_transcript_exon_variant,,ENST00000587695,;PRODH2,non_coding_transcript_exon_variant,,ENST00000591694,;	G	ENST00000301175	Transcript	missense_variant	720/1677	702/1611	234/536	Q/H	caG/caC		1		-1	PRODH2	HGNC	HGNC:17325	protein_coding	YES	CCDS12478.1	ENSP00000301175	Q9UF12		UPI000006EE59	NM_021232.1	deleterious(0)		4/11		hmmpanther:PTHR13914,hmmpanther:PTHR13914:SF5,Gene3D:3.20.20.220,Superfamily_domains:SSF51730																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	35812170	35812170	C	G	1	0	0	0	0	1	0	0	0	12682	796	28	4		4	PRODH2	19	35812170	Missense_Mutation	SNP	C	C3L-00279_TP	1430680	35812170	22805446	578	6653											
ZNF568	0	.	GRCh38	chr19	36997456	36997456	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagttcacactggggagAgaccccataagtgtaaggaa	17	6	11	7	0	1	1	1	0	0	1	1	4	1	3	2	3	0	2	2	3	5	3	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.1765A>T	p.Arg589Ter	p.R589*	ENST00000617745	8/8	293	252	41	217	217	0	strelka-varscan-mutect	ZNF568,stop_gained,p.Arg589Ter,ENST00000617745,NM_001204838.1;ZNF568,stop_gained,p.Arg525Ter,ENST00000455427,NM_001204839.1;ZNF568,downstream_gene_variant,,ENST00000444991,;ZNF568,downstream_gene_variant,,ENST00000433993,;ZNF568,downstream_gene_variant,,ENST00000455817,;ZNF568,downstream_gene_variant,,ENST00000588596,;ZNF568,non_coding_transcript_exon_variant,,ENST00000591887,;	T	ENST00000617745	Transcript	stop_gained	1965/2441	1765/1908	589/635	R/*	Aga/Tga		1		1	ZNF568	HGNC	HGNC:25392	protein_coding		CCDS74351.1	ENSP00000482444		A0A087WZ84	UPI0001FD28F8	NM_001204838.1			8/8		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF107,Superfamily_domains:SSF57667																	HIGH		SNV	5			1										PASS		.	.												T	4	4	14	36997456	36997456	A	T	1	0	0	0	0	0	1	0	0	18573	296	11	4		4	ZNF568	19	36997456	Nonsense_Mutation	SNP	A	C3L-00279_TP	1185286	36997456	21620160	579	6654											
ZNF607	0	.	GRCh38	chr19	37698439	37698439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaggccttgccacattcCttacattcgtagggtttctc	8	13	8	12	2	1	0	0	0	1	0	4	1	2	0	3	2	2	2	3	2	3	6	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1692G>T	p.Lys564Asn	p.K564N	ENST00000355202	5/5	247	192	55	173	173	0	strelka-varscan-mutect	ZNF607,missense_variant,p.Lys564Asn,ENST00000355202,NM_032689.4;ZNF607,missense_variant,p.Lys563Asn,ENST00000395835,NM_001172677.1;ZNF607,downstream_gene_variant,,ENST00000591664,;ZNF607,downstream_gene_variant,,ENST00000590670,;CTD-2528L19.4,intron_variant,,ENST00000586606,;CTD-2528L19.4,intron_variant,,ENST00000585547,;CTD-2528L19.4,intron_variant,,ENST00000591114,;ZNF607,downstream_gene_variant,,ENST00000586559,;CTD-2528L19.3,upstream_gene_variant,,ENST00000589357,;	A	ENST00000355202	Transcript	missense_variant	2288/4364	1692/2091	564/696	K/N	aaG/aaT		1		-1	ZNF607	HGNC	HGNC:28192	protein_coding	YES	CCDS33006.1	ENSP00000347338	Q96SK3		UPI000040BC07	NM_032689.4	tolerated(0.57)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF319,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	14	37698439	37698439	C	A	1	0	0	0	0	1	0	0	0	18608	680	24	2		2	ZNF607	19	37698439	Missense_Mutation	SNP	C	C3L-00279_TP	700983	37698439	20919177	580	6655											
WDR87	0	.	GRCh38	chr19	37885403	37885403	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaactcttccttttttttAgaaatgggctgtgtcttctt	6	19	8	8	0	3	1	0	0	3	1	4	1	4	1	1	2	1	2	1	2	3	7	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.8268T>C	p.=	p.S2756S	ENST00000447313	6/6	376	338	38	127	127	0	strelka-varscan-mutect	WDR87,synonymous_variant,p.=,ENST00000447313,NM_001291088.1;WDR87,synonymous_variant,p.=,ENST00000303868,NM_031951.4;	G	ENST00000447313	Transcript	synonymous_variant	8429/9009	8268/8739	2756/2912	S	tcT/tcC		1		-1	WDR87	HGNC	HGNC:29934	protein_coding	YES	CCDS74356.1	ENSP00000405012		E7ESW6	UPI0003EAEFEF	NM_001291088.1			6/6																			LOW	1	SNV	2			1										PASS		.	.												G	2	3	14	37885403	37885403	A	G	1	0	0	0	0	0	0	0	1	17890	407	15	5		5	WDR87	19	37885403	Silent	SNP	A	C3L-00279_TP	186964	37885403	20732213	581	6656											
SIPA1L3	0	.	GRCh38	chr19	38081597	38081597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgggccatccccagcgatgGtgtggacctggcagccagct	6	7	14	14	2	0	0	0	0	0	0	2	2	1	1	5	4	3	2	5	4	0	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.32G>T	p.Gly11Val	p.G11V	ENST00000222345	3/22	80	71	9	66	66	0	strelka-varscan-mutect	SIPA1L3,missense_variant,p.Gly11Val,ENST00000222345,NM_015073.2;SIPA1L3,downstream_gene_variant,,ENST00000476317,;	T	ENST00000222345	Transcript	missense_variant	541/7987	32/5346	11/1781	G/V	gGt/gTt		1		1	SIPA1L3	HGNC	HGNC:23801	protein_coding	YES	CCDS33007.1	ENSP00000222345	O60292		UPI00001D8160	NM_015073.2	deleterious_low_confidence(0.01)		3/22																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	38081597	38081597	G	T	1	0	0	0	0	1	0	0	0	14594	1261	44	2		2	SIPA1L3	19	38081597	Missense_Mutation	SNP	G	C3L-00279_TP	196194	38081597	20536019	582	6657											
DYRK1B	0	.	GRCh38	chr19	39830733	39830733	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcggggctgaggttgcatcCcggaaggccaggggcagcct	7	5	18	11	2	0	1	0	1	0	0	1	2	1	2	3	7	3	4	3	7	1	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.114G>T	p.=	p.R38R	ENST00000593685	3/11	152	125	27	102	102	0	strelka-varscan-mutect	DYRK1B,synonymous_variant,p.=,ENST00000593685,;DYRK1B,synonymous_variant,p.=,ENST00000323039,NM_004714.2;DYRK1B,synonymous_variant,p.=,ENST00000348817,NM_006484.2;DYRK1B,synonymous_variant,p.=,ENST00000430012,NM_006483.2;DYRK1B,synonymous_variant,p.=,ENST00000597639,;DYRK1B,synonymous_variant,p.=,ENST00000601972,;DYRK1B,synonymous_variant,p.=,ENST00000600611,;FBL,downstream_gene_variant,,ENST00000221801,NM_001436.3;FBL,downstream_gene_variant,,ENST00000595545,;FBL,downstream_gene_variant,,ENST00000601274,;FBL,downstream_gene_variant,,ENST00000597224,;MIR6719,upstream_gene_variant,,ENST00000622428,;FBL,downstream_gene_variant,,ENST00000593503,;FBL,downstream_gene_variant,,ENST00000594443,;DYRK1B,upstream_gene_variant,,ENST00000601696,;	A	ENST00000593685	Transcript	synonymous_variant	583/2724	114/1890	38/629	R	cgG/cgT		1		-1	DYRK1B	HGNC	HGNC:3092	protein_coding	YES	CCDS12543.1	ENSP00000469863	Q9Y463	A0A024R0I0	UPI0000001059				3/11		hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF27																	LOW		SNV	5			1										PASS		.	.												A	2	1	14	39830733	39830733	C	A	1	0	0	0	0	0	0	0	1	4679	610	22	2		2	DYRK1B	19	39830733	Silent	SNP	C	C3L-00279_TP	1749136	39830733	18786883	583	6658											
FCGBP	0	.	GRCh38	chr19	39866990	39866990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagaccacgggtggcccagCagttccgggcttcagccttg	7	7	14	13	2	1	1	1	0	0	1	2	2	2	1	4	3	2	3	4	3	0	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.12080G>T	p.Cys4027Phe	p.C4027F	ENST00000616721	26/28	162	138	24	115	115	0	strelka-varscan-mutect	FCGBP,missense_variant,p.Cys4027Phe,ENST00000616721,NM_003890.2;	A	ENST00000616721	Transcript	missense_variant	12088/12787	12080/12615	4027/4204	C/F	tGc/tTc		1		-1	FCGBP	HGNC	HGNC:13572	protein_coding	YES		ENSP00000481056		A0A087WXI2	UPI0004620B9E	NM_003890.2	deleterious(0)		26/28		Pfam_domain:PF12714,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF244,SMART_domains:SM00215,SMART_domains:SM00216,SMART_domains:SM00274																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	39866990	39866990	C	A	1	0	0	0	0	1	0	0	0	5641	710	25	2		2	FCGBP	19	39866990	Missense_Mutation	SNP	C	C3L-00279_TP	36257	39866990	18750626	584	6659											
NUMBL	0	.	GRCh38	chr19	40686995	40686995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaggcctccggggtccgcCctgcccgagtaggggaggag	5	5	17	14	3	1	0	1	0	0	0	3	3	3	2	5	6	1	1	5	6	1	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.25G>T	p.Gly9Cys	p.G9C	ENST00000252891	2/10	112	80	32	58	58	0	strelka-varscan-mutect	NUMBL,missense_variant,p.Gly9Cys,ENST00000252891,NM_004756.4;NUMBL,splice_region_variant,,ENST00000598773,;NUMBL,splice_region_variant,,ENST00000595741,;NUMBL,splice_region_variant,,ENST00000600636,;NUMBL,intron_variant,,ENST00000598779,NM_001289979.1;NUMBL,intron_variant,,ENST00000540131,NM_001289980.1;ADCK4,downstream_gene_variant,,ENST00000324464,NM_024876.3;ADCK4,downstream_gene_variant,,ENST00000243583,NM_001142555.2;NUMBL,upstream_gene_variant,,ENST00000600967,;NUMBL,splice_region_variant,,ENST00000599594,;ADCK4,downstream_gene_variant,,ENST00000593724,;NUMBL,upstream_gene_variant,,ENST00000598759,;NUMBL,upstream_gene_variant,,ENST00000599786,;NUMBL,upstream_gene_variant,,ENST00000593367,;	A	ENST00000252891	Transcript	missense_variant,splice_region_variant	193/3561	25/1830	9/609	G/C	Ggc/Tgc		1		-1	NUMBL	HGNC	HGNC:8061	protein_coding	YES	CCDS12561.1	ENSP00000252891	Q9Y6R0		UPI000003032B	NM_004756.4	deleterious_low_confidence(0.01)		2/10		PIRSF_domain:PIRSF017607,hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF32																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	40686995	40686995	C	A	1	0	0	0	0	1	0	0	0	10817	637	22	2		2	NUMBL	19	40686995	Missense_Mutation	SNP	C	C3L-00279_TP	820005	40686995	17930621	585	6660											
RAB4B	0	.	GRCh38	chr19	40783818	40783818	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaggggcggctggagccCtgctggtgtacgacatcacc	7	6	15	13	3	1	0	1	0	0	0	1	3	1	1	3	5	3	3	3	5	1	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.253C>T	p.=	p.L85L	ENST00000594800	4/8	61	52	9	32	32	0	strelka-varscan-mutect	RAB4B,synonymous_variant,p.=,ENST00000594800,;RAB4B,synonymous_variant,p.=,ENST00000357052,NM_016154.4;RAB4B,intron_variant,,ENST00000602173,;CTC-490E21.14,intron_variant,,ENST00000595728,;RAB4B,intron_variant,,ENST00000602069,;RAB4B-EGLN2,intron_variant,,ENST00000601949,;RAB4B-EGLN2,synonymous_variant,p.=,ENST00000594136,;RAB4B,synonymous_variant,p.=,ENST00000378307,;MIA-RAB4B,3_prime_UTR_variant,,ENST00000600729,;RAB4B,non_coding_transcript_exon_variant,,ENST00000597476,;RAB4B,non_coding_transcript_exon_variant,,ENST00000600078,;RAB4B-EGLN2,non_coding_transcript_exon_variant,,ENST00000596216,;RAB4B,upstream_gene_variant,,ENST00000598430,;	T	ENST00000594800	Transcript	synonymous_variant	413/1173	253/642	85/213	L	Ctg/Ttg		1		1	RAB4B	HGNC	HGNC:9782	protein_coding	YES	CCDS33030.1	ENSP00000470246	P61018	A0A024R0K8	UPI000000125C				4/8		Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF387,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231																	LOW		SNV	5			1										PASS		.	.												T	2	4	14	40783818	40783818	C	T	1	0	0	0	0	0	0	0	1	13107	680	24	3		3	RAB4B	19	40783818	Silent	SNP	C	C3L-00279_TP	96823	40783818	17833798	586	6661											
ATP1A3	0	.	GRCh38	chr19	41978242	41978242	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaggcccacaaagcagaggTtgtccgtggtgaagttcacg	10	8	14	9	2	1	3	1	2	0	1	2	3	2	3	2	3	1	3	2	3	2	2	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.1754A>T	p.Asn585Ile	p.N585I	ENST00000545399	13/23	471	368	103	445	445	0	strelka-varscan-mutect	ATP1A3,missense_variant,p.Asn585Ile,ENST00000545399,NM_001256214.1;ATP1A3,missense_variant,p.Asn572Ile,ENST00000302102,NM_152296.4;ATP1A3,missense_variant,p.Asn542Ile,ENST00000602133,;ATP1A3,missense_variant,p.Asn583Ile,ENST00000543770,NM_001256213.1;ATP1A3,missense_variant,p.Asn572Ile,ENST00000441343,;	A	ENST00000545399	Transcript	missense_variant	1938/3618	1754/3081	585/1026	N/I	aAc/aTc		1		-1	ATP1A3	HGNC	HGNC:801	protein_coding	YES	CCDS58664.1	ENSP00000444688	P13637		UPI0001914BDE	NM_001256214.1	deleterious(0)		13/23		Gene3D:3.40.1110.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF259,Superfamily_domains:SSF56784,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01106																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	14	41978242	41978242	T	A	1	0	0	0	0	1	0	0	0	1282	1725	60	4		4	ATP1A3	19	41978242	Missense_Mutation	SNP	T	C3L-00279_TP	1194424	41978242	16639374	587	6662											
PSG8	0	.	GRCh38	chr19	42758070	42758070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccgtatttcacattcatagGgtcctgcagtgtactttgtg	7	16	9	9	1	2	0	2	0	0	0	4	0	4	0	2	1	2	3	2	1	3	6	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.641C>T	p.Pro214Leu	p.P214L	ENST00000306511	3/5	308	240	68	319	319	0	strelka-varscan-mutect	PSG8,missense_variant,p.Pro214Leu,ENST00000404209,NM_001130167.1;PSG8,missense_variant,p.Pro92Leu,ENST00000406636,NM_001130168.1;PSG8,missense_variant,p.Pro214Leu,ENST00000306511,NM_182707.2;PSG8,intron_variant,,ENST00000401467,;PSG8,non_coding_transcript_exon_variant,,ENST00000600709,;PSG8,non_coding_transcript_exon_variant,,ENST00000469260,;PSG8,3_prime_UTR_variant,,ENST00000478387,;PSG8,upstream_gene_variant,,ENST00000466163,;	A	ENST00000306511	Transcript	missense_variant	739/1441	641/1281	214/426	P/L	cCc/cTc		1		-1	PSG8	HGNC	HGNC:9525	protein_coding	YES	CCDS33037.1	ENSP00000305005	Q9UQ74		UPI0000071471	NM_182707.2	tolerated(0.07)		3/5		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1217784155	.												A	3	1	14	42758070	42758070	G	A	1	0	0	0	0	1	0	0	0	12812	1232	43	3		3	PSG8	19	42758070	Missense_Mutation	SNP	G	C3L-00279_TP	779828	42758070	15859546	588	6663											
PSG5	0	.	GRCh38	chr19	43185049	43185049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgaggcaaattgtggaCaagtagaagaacatccttcc	14	10	9	8	0	1	3	0	1	1	2	3	4	3	4	2	2	1	2	2	2	5	4	rs771257107		C3L-00279_TP	C3L-00279_NB	C	C																c.163G>T	p.Val55Phe	p.V55F	ENST00000366175	2/6	259	213	46	153	153	0	strelka-varscan-mutect	PSG5,missense_variant,p.Val55Phe,ENST00000404580,;PSG5,missense_variant,p.Val55Phe,ENST00000599812,;PSG5,missense_variant,p.Val55Phe,ENST00000366175,;PSG5,missense_variant,p.Val55Phe,ENST00000342951,NM_001130014.1,NM_002781.3;PSG5,missense_variant,p.Val55Phe,ENST00000407356,;PSG5,missense_variant,p.Val55Phe,ENST00000407568,;PSG5,non_coding_transcript_exon_variant,,ENST00000401992,;PSG5,upstream_gene_variant,,ENST00000489220,;PSG5,non_coding_transcript_exon_variant,,ENST00000600817,;	A	ENST00000366175	Transcript	missense_variant	294/1766	163/1008	55/335	V/F	Gtc/Ttc	rs771257107,COSM3288697	1		-1	PSG5	HGNC	HGNC:9522	protein_coding	YES	CCDS12617.1	ENSP00000382334	Q15238	A0A024R0S1	UPI000013C7B9		deleterious(0)		2/6		Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs771257107	.												A	3	1	14	43185049	43185049	C	A	1	0	0	0	0	1	0	0	0	12809	478	17	2		2	PSG5	19	43185049	Missense_Mutation	SNP	C	C3L-00279_TP	426979	43185049	15432567	589	6664											
CD177	0	.	GRCh38	chr19	43360380	43360380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggggcaggtgtgtcaGgagacgctgctgctcctaga	7	8	18	8	1	1	2	1	0	0	2	2	4	2	2	1	5	2	4	1	5	1	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.735G>T	p.Gln245His	p.Q245H	ENST00000618265	6/9	173	140	33	147	147	0	strelka-varscan-mutect	CD177,missense_variant,p.Gln245His,ENST00000618265,NM_020406.3;CTC-490G23.4,downstream_gene_variant,,ENST00000607109,;CD177,3_prime_UTR_variant,,ENST00000378012,;	T	ENST00000618265	Transcript	missense_variant	791/2222	735/1314	245/437	Q/H	caG/caT		1		1	CD177	HGNC	HGNC:30072	protein_coding	YES	CCDS62700.1	ENSP00000479536		A0A087WVM2	UPI0000DB6A71	NM_020406.3	deleterious(0)		6/9		hmmpanther:PTHR16529,hmmpanther:PTHR16529:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	43360380	43360380	G	T	1	0	0	0	0	1	0	0	0	2674	991	35	2		2	CD177	19	43360380	Missense_Mutation	SNP	G	C3L-00279_TP	175331	43360380	15257236	590	6665											
ZNF284	0	.	GRCh38	chr19	44085961	44085961	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcttcagtgatgtctccatCcttgatcttcatcaacaatt	9	17	4	11	0	6	2	3	2	3	0	8	2	7	2	2	0	1	0	2	0	2	5	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.483C>T	p.=	p.I161I	ENST00000421176	5/5	345	280	65	223	223	0	strelka-varscan-mutect	ZNF284,synonymous_variant,p.=,ENST00000421176,NM_001037813.2;RNU6-902P,upstream_gene_variant,,ENST00000517212,;AC084219.2,3_prime_UTR_variant,,ENST00000591793,;	T	ENST00000421176	Transcript	synonymous_variant	699/4351	483/1782	161/593	I	atC/atT		1		1	ZNF284	HGNC	HGNC:13078	protein_coding	YES	CCDS46099.1	ENSP00000411032	Q2VY69		UPI00005788EA	NM_001037813.2			5/5		hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF2,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	44085961	44085961	C	T	1	0	0	0	0	0	0	0	1	18397	845	30	3		3	ZNF284	19	44085961	Silent	SNP	C	C3L-00279_TP	725581	44085961	14531655	591	6666											
MARK4	0	.	GRCh38	chr19	45280402	45280402	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgggtatgggctacacacgGgaagaaatcaaagagtcctt	13	8	13	7	1	1	2	1	0	0	2	2	3	2	3	1	3	1	2	1	3	5	3			C3L-00279_TP	C3L-00279_NB	G	G																c.1035G>T	p.=	p.R345R	ENST00000262891	11/17	230	197	33	226	226	0	strelka-varscan-mutect	MARK4,synonymous_variant,p.=,ENST00000300843,NM_031417.3;MARK4,synonymous_variant,p.=,ENST00000262891,NM_001199867.1;MARK4,3_prime_UTR_variant,,ENST00000620044,;MARK4,3_prime_UTR_variant,,ENST00000592207,;MARK4,3_prime_UTR_variant,,ENST00000592762,;MARK4,non_coding_transcript_exon_variant,,ENST00000588621,;MARK4,non_coding_transcript_exon_variant,,ENST00000590897,;	T	ENST00000262891	Transcript	synonymous_variant	1366/3573	1035/2259	345/752	R	cgG/cgT	COSM3664843,COSM3664844	1		1	MARK4	HGNC	HGNC:13538	protein_coding	YES	CCDS56097.1	ENSP00000262891	Q96L34		UPI0000044D47	NM_001199867.1			11/17		PROSITE_profiles:PS50030,hmmpanther:PTHR24346,Gene3D:1.10.8.10,Pfam_domain:PF00627,SMART_domains:SM00165											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	14	45280402	45280402	G	T	1	0	0	0	0	0	0	0	1	9240	1219	43	2		2	MARK4	19	45280402	Silent	SNP	G	C3L-00279_TP	1194441	45280402	13337214	592	6667											
NPAS1	0	.	GRCh38	chr19	47045542	47045542	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcctggtgtacccgcAcctgcagaggctgggtccgg	4	7	17	13	2	0	1	0	0	0	1	1	1	1	1	4	5	2	5	4	5	1	1	rs748739875		C3L-00279_TP	C3L-00279_NB	A	A																c.1664A>C	p.His555Pro	p.H555P	ENST00000602212	12/12	78	69	9	146	146	0	strelka-mutect	NPAS1,missense_variant,p.His555Pro,ENST00000602212,;NPAS1,missense_variant,p.His555Pro,ENST00000449844,NM_002517.2;NPAS1,missense_variant,p.His380Pro,ENST00000602189,;NPAS1,3_prime_UTR_variant,,ENST00000439365,NM_001321086.1;NPAS1,downstream_gene_variant,,ENST00000594670,;TMEM160,downstream_gene_variant,,ENST00000253047,NM_017854.1;NPAS1,downstream_gene_variant,,ENST00000600352,;NPAS1,downstream_gene_variant,,ENST00000601169,;NPAS1,downstream_gene_variant,,ENST00000594257,;	C	ENST00000602212	Transcript	missense_variant	1884/2117	1664/1773	555/590	H/P	cAc/cCc	rs748739875	1		1	NPAS1	HGNC	HGNC:7894	protein_coding	YES	CCDS12694.1	ENSP00000469142	Q99742		UPI0000073CD1		deleterious_low_confidence(0)		12/12		hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF25																	MODERATE	1	SNV	1			1										PASS		rs748739875	.												C	3	2	14	47045542	47045542	A	C	1	0	0	0	0	1	0	0	0	10610	159	6	5		5	NPAS1	19	47045542	Missense_Mutation	SNP	A	C3L-00279_TP	1765140	47045542	11572074	593	6668											
MED25	0	.	GRCh38	chr19	49830124	49830124	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaggccccctccagtcaaAgcagccagtccccctgcctc	7	5	7	22	0	1	0	1	0	0	0	4	0	3	0	8	1	3	1	8	1	1	0	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.725A>T	p.Lys242Met	p.K242M	ENST00000312865	7/18	84	68	16	69	69	0	strelka-varscan-mutect	MED25,missense_variant,p.Lys242Met,ENST00000312865,NM_030973.3;MED25,missense_variant,p.Lys242Met,ENST00000620467,;MED25,missense_variant,p.Lys241Asn,ENST00000612791,;MED25,intron_variant,,ENST00000538643,;MED25,intron_variant,,ENST00000617849,;MED25,intron_variant,,ENST00000618715,;MED25,intron_variant,,ENST00000612854,;MED25,intron_variant,,ENST00000595185,;MED25,intron_variant,,ENST00000622402,;MED25,upstream_gene_variant,,ENST00000593767,;MED25,upstream_gene_variant,,ENST00000614963,;MED25,upstream_gene_variant,,ENST00000594998,;MED25,upstream_gene_variant,,ENST00000599722,;	T	ENST00000312865	Transcript	missense_variant	778/2332	725/2244	242/747	K/M	aAg/aTg		1		1	MED25	HGNC	HGNC:28845	protein_coding	YES	CCDS33075.1	ENSP00000326767	Q71SY5		UPI00002029A3	NM_030973.3	deleterious(0.02)		7/18		hmmpanther:PTHR12433,hmmpanther:PTHR12433:SF10,Pfam_domain:PF11235																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	49830124	49830124	A	T	1	0	0	0	0	1	0	0	0	9382	72	3	4		4	MED25	19	49830124	Missense_Mutation	SNP	A	C3L-00279_TP	2784582	49830124	8787492	594	6669											
MYH14	0	.	GRCh38	chr19	50293279	50293279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcaggcccagcaggaccGggatgagatggcagatgagg	10	3	19	9	2	0	3	0	2	0	2	0	6	0	5	2	6	1	3	2	6	0	0	rs368770587		C3L-00279_TP	C3L-00279_NB	G	G																c.5303G>T	p.Arg1768Leu	p.R1768L	ENST00000601313	38/43	383	331	52	448	448	0	strelka-varscan-mutect	MYH14,missense_variant,p.Arg1768Leu,ENST00000601313,NM_001145809.1;MYH14,missense_variant,p.Arg1735Leu,ENST00000425460,NM_001077186.1;MYH14,missense_variant,p.Arg1727Leu,ENST00000376970,NM_024729.3;MYH14,missense_variant,p.Arg1735Leu,ENST00000598205,;MYH14,missense_variant,p.Arg1727Leu,ENST00000596571,;MYH14,missense_variant,p.Arg370Leu,ENST00000440075,;MYH14,3_prime_UTR_variant,,ENST00000262269,;MYH14,non_coding_transcript_exon_variant,,ENST00000595016,;	T	ENST00000601313	Transcript	missense_variant	5333/6896	5303/6111	1768/2036	R/L	cGg/cTg	rs368770587	1		1	MYH14	HGNC	HGNC:23212	protein_coding	YES	CCDS54295.1	ENSP00000470298	Q7Z406		UPI0001641C2F	NM_001145809.1	tolerated(0.09)		38/43		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF462,Pfam_domain:PF01576																	MODERATE	1	SNV	1			1										PASS		rs368770587	.												T	3	4	14	50293279	50293279	G	T	1	0	0	0	0	1	0	0	0	10033	1116	39	1		1	MYH14	19	50293279	Missense_Mutation	SNP	G	C3L-00279_TP	463155	50293279	8324337	595	6670											
SIGLEC10	0	.	GRCh38	chr19	51417230	51417230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgggatccccagtgagCtggaatcggccccgggtgct	5	8	16	12	3	0	1	0	1	0	0	2	3	1	3	4	5	2	2	4	5	1	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.273G>C	p.Gln91His	p.Q91H	ENST00000339313	2/11	325	283	42	314	314	0	strelka-varscan-mutect	SIGLEC10,missense_variant,p.Gln91His,ENST00000353836,NM_001171157.1;SIGLEC10,missense_variant,p.Gln91His,ENST00000441969,NM_001171159.1;SIGLEC10,missense_variant,p.Gln91His,ENST00000442846,NM_001171161.1;SIGLEC10,missense_variant,p.Gln91His,ENST00000339313,NM_033130.4;SIGLEC10,missense_variant,p.Gln91His,ENST00000439889,NM_001171156.1;SIGLEC10,missense_variant,p.Gln91His,ENST00000525998,;SIGLEC10,missense_variant,p.Gln91His,ENST00000436984,NM_001171158.1;SIGLEC10,missense_variant,p.Gln58His,ENST00000530476,;SIGLEC10,intron_variant,,ENST00000529627,;CTD-2616J11.2,non_coding_transcript_exon_variant,,ENST00000532688,;CTD-2616J11.2,downstream_gene_variant,,ENST00000526996,;CTD-2616J11.3,downstream_gene_variant,,ENST00000532473,;SIGLEC10,non_coding_transcript_exon_variant,,ENST00000524527,;SIGLEC10,intron_variant,,ENST00000357375,;	G	ENST00000339313	Transcript	missense_variant	390/2256	273/2094	91/697	Q/H	caG/caC		1		-1	SIGLEC10	HGNC	HGNC:15620	protein_coding	YES	CCDS12832.1	ENSP00000345243	Q96LC7		UPI0000047E1A	NM_033130.4	tolerated(0.07)		2/11		Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF68,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	51417230	51417230	C	G	1	0	0	0	0	1	0	0	0	14570	796	28	4		4	SIGLEC10	19	51417230	Missense_Mutation	SNP	C	C3L-00279_TP	1123951	51417230	7200386	596	6671											
ERVV-1	0	.	GRCh38	chr19	53014201	53014201	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttccaaaataattgcttcGggaaaccatctaagcaactg	14	12	6	9	1	1	0	0	0	1	0	3	1	2	1	2	1	4	2	2	1	6	6	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.111G>T	p.=	p.S37S	ENST00000602168	1/1	101	88	13	57	57	0	varscan-mutect	ERVV-1,synonymous_variant,p.=,ENST00000602168,NM_152473.2;CTD-2620I22.3,downstream_gene_variant,,ENST00000596769,;ZNF702P,intron_variant,,ENST00000600425,;ZNF702P,intron_variant,,ENST00000594516,;	T	ENST00000602168	Transcript	synonymous_variant	281/2202	111/1434	37/477	S	tcG/tcT		1		1	ERVV-1	HGNC	HGNC:26501	protein_coding	YES	CCDS59419.1	ENSP00000473153	B6SEH8	M9QQA5	UPI00018258B8	NM_152473.2			1/1		hmmpanther:PTHR10424,hmmpanther:PTHR10424:SF8																	LOW		SNV				1										PASS		rs1420475982	.												T	2	4	14	53014201	53014201	G	T	1	0	0	0	0	0	0	0	1	5106	1103	39	1		1	ERVV-1	19	53014201	Silent	SNP	G	C3L-00279_TP	1596971	53014201	5603415	597	6672											
KIR3DX1	0	.	GRCh38	chr19	54533844	54533844	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgtcatatggacaatattCcaaacaactgggacccgaag	14	10	8	9	1	1	0	1	0	0	0	2	3	2	2	2	2	2	0	2	2	6	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.183C>A	p.Phe61Leu	p.F61L	ENST00000221567	3/9	410	341	69	408	408	0	strelka-varscan-mutect	KIR3DX1,missense_variant,p.Phe61Leu,ENST00000610811,;KIR3DX1,upstream_gene_variant,,ENST00000611588,;KIR3DX1,missense_variant,p.Phe61Leu,ENST00000221567,;KIR3DX1,missense_variant,p.Phe61Leu,ENST00000446586,;KIR3DX1,missense_variant,p.Phe61Leu,ENST00000447145,;KIR3DX1,missense_variant,p.Phe61Leu,ENST00000434659,;KIR3DX1,non_coding_transcript_exon_variant,,ENST00000613375,;KIR3DX1,non_coding_transcript_exon_variant,,ENST00000612759,;	A	ENST00000221567	Transcript	missense_variant,NMD_transcript_variant	190/1378	183/1059	61/352	F/L	ttC/ttA		1		1	KIR3DX1	HGNC	HGNC:25043	nonsense_mediated_decay	YES		ENSP00000221567	Q9H7L2		UPI0000DE238B		tolerated(0.15)		3/9		hmmpanther:PTHR11738:SF113,hmmpanther:PTHR11738,Pfam_domain:PF00047,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	54533844	54533844	C	A	1	0	0	0	0	1	0	0	0	8187	854	30	2		2	KIR3DX1	19	54533844	Missense_Mutation	SNP	C	C3L-00279_TP	1519643	54533844	4083772	598	6673											
PPP6R1	0	.	GRCh38	chr19	55241607	55241607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgcccatccacactgCtgaagaagctgttcacggtc	9	8	9	15	1	1	2	1	1	0	1	3	2	2	2	3	1	4	4	3	1	2	1	rs751463370		C3L-00279_TP	C3L-00279_NB	C	C																c.878G>T	p.Ser293Ile	p.S293I	ENST00000412770	8/24	116	102	14	89	89	0	strelka-varscan-mutect	PPP6R1,missense_variant,p.Ser293Ile,ENST00000412770,NM_014931.3;PPP6R1,missense_variant,p.Ser293Ile,ENST00000587283,;PPP6R1,downstream_gene_variant,,ENST00000592242,;MIR6803,downstream_gene_variant,,ENST00000615997,;MIR6802,upstream_gene_variant,,ENST00000617379,;PPP6R1,non_coding_transcript_exon_variant,,ENST00000591323,;PPP6R1,non_coding_transcript_exon_variant,,ENST00000591602,;PPP6R1,upstream_gene_variant,,ENST00000589343,;PPP6R1,upstream_gene_variant,,ENST00000586690,;	A	ENST00000412770	Transcript	missense_variant	1445/3961	878/2646	293/881	S/I	aGc/aTc	rs751463370	1		-1	PPP6R1	HGNC	HGNC:29195	protein_coding	YES	CCDS46186.1	ENSP00000414202	Q9UPN7		UPI0000202C6D	NM_014931.3	tolerated(0.11)		8/24		hmmpanther:PTHR12634:SF13,hmmpanther:PTHR12634,Pfam_domain:PF04499																	MODERATE	1	SNV	1			1										PASS		rs751463370	.												A	3	1	14	55241607	55241607	C	A	1	0	0	0	0	1	0	0	0	12534	797	28	2		2	PPP6R1	19	55241607	Missense_Mutation	SNP	C	C3L-00279_TP	707763	55241607	3376009	599	6674											
FAM71E2	0	.	GRCh38	chr19	55358314	55358314	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggctcctgcgacacccTcttgggctgctgggacgccc	4	8	13	16	2	1	0	0	0	1	0	2	2	2	1	3	3	2	3	3	3	0	1	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.2554A>T	p.Arg852Trp	p.R852W	ENST00000424985	9/11	61	44	17	52	52	0	strelka-varscan-mutect	FAM71E2,missense_variant,p.Arg852Trp,ENST00000424985,NM_001145402.1;COX6B2,upstream_gene_variant,,ENST00000593184,;COX6B2,upstream_gene_variant,,ENST00000588572,;COX6B2,upstream_gene_variant,,ENST00000326529,NM_144613.4;COX6B2,upstream_gene_variant,,ENST00000590900,;COX6B2,upstream_gene_variant,,ENST00000589467,;COX6B2,upstream_gene_variant,,ENST00000589879,;COX6B2,upstream_gene_variant,,ENST00000586191,;CTD-2105E13.6,missense_variant,p.Arg402Trp,ENST00000591954,;FAM71E2,3_prime_UTR_variant,,ENST00000585734,;COX6B2,upstream_gene_variant,,ENST00000587854,;COX6B2,upstream_gene_variant,,ENST00000587357,;	A	ENST00000424985	Transcript	missense_variant	2748/3191	2554/2769	852/922	R/W	Agg/Tgg		1		-1	FAM71E2	HGNC	HGNC:25278	protein_coding	YES		ENSP00000398617	Q8N5Q1		UPI0001949ABA	NM_001145402.1	deleterious(0.01)		9/11																			MODERATE		SNV	5			1										PASS		.	.												A	3	1	14	55358314	55358314	T	A	1	0	0	0	0	1	0	0	0	5476	1550	54	4		4	FAM71E2	19	55358314	Missense_Mutation	SNP	T	C3L-00279_TP	116707	55358314	3259302	600	6675											
ZNF543	0	.	GRCh38	chr19	57329000	57329000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctatgaatgcatccagtgtgGgaaagccttttgccggagcg	9	10	13	9	2	0	1	0	1	0	0	1	3	1	3	3	2	4	1	3	2	3	3	rs765099244		C3L-00279_TP	C3L-00279_NB	G	G																c.1538G>T	p.Gly513Val	p.G513V	ENST00000321545	4/4	263	239	24	247	246	1	strelka-varscan-mutect	ZNF543,missense_variant,p.Gly513Val,ENST00000321545,NM_213598.3;	T	ENST00000321545	Transcript	missense_variant	1883/3659	1538/1803	513/600	G/V	gGg/gTg	rs765099244	1		1	ZNF543	HGNC	HGNC:25281	protein_coding	YES	CCDS33130.1	ENSP00000322545	Q08ER8		UPI00001D8197	NM_213598.3	deleterious(0)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs765099244	.												T	3	4	14	57329000	57329000	G	T	1	0	0	0	0	1	0	0	0	18550	1232	43	2		2	ZNF543	19	57329000	Missense_Mutation	SNP	G	C3L-00279_TP	1970686	57329000	1288616	601	6676											
TRMT6	0	.	GRCh38	chr20	5942565	5942565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcattctcttgttcagaagCctgtttttcctccagtgtgc	5	18	7	11	0	3	1	2	0	1	1	6	1	5	1	3	0	2	2	3	0	1	6	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.889G>A	p.Ala297Thr	p.A297T	ENST00000203001	7/11	504	440	64	349	348	1	strelka-varscan-mutect	TRMT6,missense_variant,p.Ala297Thr,ENST00000203001,NM_015939.4;TRMT6,missense_variant,p.Ala127Thr,ENST00000453074,NM_001281467.1;TRMT6,non_coding_transcript_exon_variant,,ENST00000473131,;TRMT6,non_coding_transcript_exon_variant,,ENST00000466974,;TRMT6,downstream_gene_variant,,ENST00000493972,;	T	ENST00000203001	Transcript	missense_variant	1020/2327	889/1494	297/497	A/T	Gct/Act		1		-1	TRMT6	HGNC	HGNC:20900	protein_coding	YES	CCDS13093.1	ENSP00000203001	Q9UJA5		UPI000006D9E4	NM_015939.4	tolerated(0.66)		7/11		PIRSF_domain:PIRSF038170,hmmpanther:PTHR12945																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	5942565	5942565	C	T	1	0	0	0	0	1	0	0	0	17073	739	26	3		3	TRMT6	20	5942565	Missense_Mutation	SNP	C	C3L-00279_TP		5942565	58501602	602	6677											
HAO1	0	.	GRCh38	chr20	7940289	7940289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaataaattttcttacctgGaaaatgctgcaatattatca	17	14	4	6	0	2	0	1	0	1	0	2	1	2	1	1	1	3	2	1	1	10	6	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.134C>A	p.Ser45Tyr	p.S45Y	ENST00000378789	1/8	87	77	10	29	29	0	strelka-varscan-mutect	HAO1,missense_variant,p.Ser45Tyr,ENST00000378789,NM_017545.2;	T	ENST00000378789	Transcript	missense_variant	186/1777	134/1113	45/370	S/Y	tCc/tAc		1		-1	HAO1	HGNC	HGNC:4809	protein_coding	YES	CCDS13100.1	ENSP00000368066	Q9UJM8	A8K058	UPI000012C08B	NM_017545.2	deleterious(0.04)		1/8		PROSITE_profiles:PS51349,hmmpanther:PTHR10578,Gene3D:3.20.20.70,PIRSF_domain:PIRSF000138,Pfam_domain:PF01070,Superfamily_domains:SSF51395																	MODERATE	1	SNV	1			1										PASS		rs1281967601	.												T	3	4	14	7940289	7940289	G	T	1	0	0	0	0	1	0	0	0	6837	1188	41	2		2	HAO1	20	7940289	Missense_Mutation	SNP	G	C3L-00279_TP	1997724	7940289	56503878	603	6678											
PLCB4	0	.	GRCh38	chr20	9476727	9476727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtacaaacagcttttgaaatCctgtcatgcagtgtcccaaa	13	11	7	10	0	1	1	1	1	0	0	3	1	3	1	2	0	4	3	2	0	4	3	rs760551309		C3L-00279_TP	C3L-00279_NB	C	C																c.3470C>T	p.Ser1157Phe	p.S1157F	ENST00000378501	35/36	198	184	14	153	152	1	strelka-varscan-mutect	PLCB4,missense_variant,p.Ser1157Phe,ENST00000378501,NM_000933.3;PLCB4,intron_variant,,ENST00000378493,;PLCB4,intron_variant,,ENST00000378473,NM_001172646.1;PLCB4,intron_variant,,ENST00000278655,NM_182797.2;PLCB4,intron_variant,,ENST00000414679,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,intron_variant,,ENST00000464199,;PLCB4,intron_variant,,ENST00000482123,;PLCB4,intron_variant,,ENST00000473151,;	T	ENST00000378501	Transcript	missense_variant	3485/5833	3470/3585	1157/1194	S/F	tCc/tTc	rs760551309,COSM578635	1		1	PLCB4	HGNC	HGNC:9059	protein_coding	YES	CCDS13104.1	ENSP00000367762	Q15147		UPI00002069DF	NM_000933.3	deleterious(0.04)		35/36		Superfamily_domains:0053448,Gene3D:1jadA00,Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF000956,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF106											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs760551309	.												T	3	4	14	9476727	9476727	C	T	1	0	0	0	0	1	0	0	0	12124	855	30	3		3	PLCB4	20	9476727	Missense_Mutation	SNP	C	C3L-00279_TP	1536438	9476727	54967440	604	6679											
KIF16B	0	.	GRCh38	chr20	16379126	16379126	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctggtttgcattggcctggTactgtgcaagctgttcttct	4	16	12	9	0	2	0	0	0	2	0	2	0	2	0	1	3	4	7	1	3	2	5	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.2876A>T	p.Tyr959Phe	p.Y959F	ENST00000408042	19/23	156	144	12	112	112	0	strelka-varscan-mutect	KIF16B,missense_variant,p.Tyr959Phe,ENST00000354981,NM_024704.4;KIF16B,missense_variant,p.Tyr959Phe,ENST00000636835,NM_001199865.1;KIF16B,missense_variant,p.Tyr959Phe,ENST00000408042,NM_001199866.1;KIF16B,downstream_gene_variant,,ENST00000450176,;	A	ENST00000408042	Transcript	missense_variant	3034/4640	2876/4179	959/1392	Y/F	tAc/tTc		1		-1	KIF16B	HGNC	HGNC:15869	protein_coding	YES	CCDS56178.1	ENSP00000384164	Q96L93		UPI00003BF77C	NM_001199866.1	deleterious_low_confidence(0.04)		19/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF400,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	16379126	16379126	T	A	1	0	0	0	0	1	0	0	0	8142	1638	57	4		4	KIF16B	20	16379126	Missense_Mutation	SNP	T	C3L-00279_TP	6902399	16379126	48065041	605	6680											
SEC23B	0	.	GRCh38	chr20	18551157	18551157	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatactttctttcaaatTgtcatttatcttggtgaggt	9	19	8	5	0	4	1	2	1	2	0	4	2	4	2	0	3	1	0	0	3	3	7	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.1974T>A	p.=	p.I658I	ENST00000336714	17/20	299	281	18	206	206	0	strelka-varscan-mutect	SEC23B,synonymous_variant,p.=,ENST00000336714,NM_032986.3,NM_032985.4,NM_006363.4;SEC23B,synonymous_variant,p.=,ENST00000377475,NM_001172746.1;SEC23B,synonymous_variant,p.=,ENST00000377465,NM_001172745.1;SEC23B,synonymous_variant,p.=,ENST00000262544,;SEC23B,intron_variant,,ENST00000422877,;	A	ENST00000336714	Transcript	synonymous_variant	2406/3411	1974/2304	658/767	I	atT/atA		1		1	SEC23B	HGNC	HGNC:10702	protein_coding	YES	CCDS13137.1	ENSP00000338844	Q15437		UPI0000135455	NM_032986.3,NM_032985.4,NM_006363.4			17/20		hmmpanther:PTHR11141,hmmpanther:PTHR11141:SF7,Gene3D:3.40.20.10,Pfam_domain:PF00626,Superfamily_domains:SSF82754																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	18551157	18551157	T	A	1	0	0	0	0	0	0	0	1	14269	1800	63	4		4	SEC23B	20	18551157	Silent	SNP	T	C3L-00279_TP	2172031	18551157	45893010	606	6681											
NKX2-2	0	.	GRCh38	chr20	21512309	21512309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccgctgctgccgaaagcGccgctccagctcgtaggtct	6	8	12	15	5	1	0	0	0	1	0	3	1	2	0	4	1	5	6	4	1	3	2	rs760256898		C3L-00279_TP	C3L-00279_NB	G	G																c.436C>A	p.Arg146Ser	p.R146S	ENST00000377142	2/2	417	381	36	417	416	1	strelka-varscan-mutect	NKX2-2,missense_variant,p.Arg146Ser,ENST00000377142,NM_002509.3;NKX2-2-AS1,non_coding_transcript_exon_variant,,ENST00000549659,;	T	ENST00000377142	Transcript	missense_variant	793/2092	436/822	146/273	R/S	Cgc/Agc	rs760256898,COSM4707078	1		-1	NKX2-2	HGNC	HGNC:7835	protein_coding	YES	CCDS13145.1	ENSP00000366347	O95096		UPI00001301E6	NM_002509.3	deleterious(0)		2/2		PROSITE_profiles:PS50071,hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF24,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs760256898	.												T	3	4	14	21512309	21512309	G	T	1	0	0	0	0	1	0	0	0	10486	1087	38	1		1	NKX2-2	20	21512309	Missense_Mutation	SNP	G	C3L-00279_TP	2961152	21512309	42931858	607	6682											
PAX1	0	.	GRCh38	chr20	21706620	21706620	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcgcgctacaacgagAccggctccattctgcccggg	6	7	12	16	5	1	1	0	0	1	1	3	2	3	1	4	3	3	2	4	3	2	2	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.469A>T	p.Thr157Ser	p.T157S	ENST00000398485	2/5	425	393	32	371	371	0	strelka-varscan-mutect	PAX1,missense_variant,p.Thr157Ser,ENST00000613128,NM_001257096.1;PAX1,missense_variant,p.Thr157Ser,ENST00000398485,NM_006192.4;PAX1,missense_variant,p.Thr133Ser,ENST00000444366,;RP5-1065O2.4,upstream_gene_variant,,ENST00000624692,;PAX1,intron_variant,,ENST00000460221,;PAX1,upstream_gene_variant,,ENST00000485038,;	T	ENST00000398485	Transcript	missense_variant	523/2838	469/1605	157/534	T/S	Acc/Tcc		1		1	PAX1	HGNC	HGNC:8615	protein_coding	YES	CCDS13146.2	ENSP00000381499	P15863		UPI000179A786	NM_006192.4	deleterious(0.01)		2/5		Gene3D:1.10.10.10,Pfam_domain:PF00292,Prints_domain:PR00027,PROSITE_profiles:PS51057,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF262,SMART_domains:SM00351,Superfamily_domains:SSF46689																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	14	21706620	21706620	A	T	1	0	0	0	0	1	0	0	0	11563	275	10	4		4	PAX1	20	21706620	Missense_Mutation	SNP	A	C3L-00279_TP	194311	21706620	42737547	608	6683											
FOXA2	0	.	GRCh38	chr20	22582224	22582224	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggagagggcgccggctCtggggggctcagcgccgcag	4	3	20	14	5	2	1	1	0	1	1	2	2	2	1	3	6	1	3	3	6	0	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1018G>T	p.Glu340Ter	p.E340*	ENST00000419308	2/2	115	107	8	68	68	0	strelka-varscan-mutect	FOXA2,stop_gained,p.Glu340Ter,ENST00000419308,NM_021784.4;FOXA2,stop_gained,p.Glu334Ter,ENST00000377115,NM_153675.2;LINC00261,upstream_gene_variant,,ENST00000564492,;	A	ENST00000419308	Transcript	stop_gained	1203/2422	1018/1392	340/463	E/*	Gag/Tag		1		-1	FOXA2	HGNC	HGNC:5022	protein_coding	YES	CCDS46585.1	ENSP00000400341	Q9Y261	B0ZTD4	UPI000040F9A0	NM_021784.4			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF167																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	14	22582224	22582224	C	A	1	0	0	0	0	0	1	0	0	5850	922	32	2		2	FOXA2	20	22582224	Nonsense_Mutation	SNP	C	C3L-00279_TP	875604	22582224	41861943	609	6684											
SSTR4	0	.	GRCh38	chr20	23036212	23036212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgcgcgccgtggccctGcgcgctggctggcagcagcg	5	5	17	14	6	0	1	0	0	0	1	0	1	0	1	2	3	4	4	2	3	1	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.729G>A	p.=	p.L243L	ENST00000255008	1/1	127	115	12	117	117	0	strelka-varscan-mutect	SSTR4,synonymous_variant,p.=,ENST00000255008,NM_001052.2;RP4-753D10.3,intron_variant,,ENST00000440921,;RP4-753D10.3,upstream_gene_variant,,ENST00000419734,;	A	ENST00000255008	Transcript	synonymous_variant	827/1427	729/1167	243/388	L	ctG/ctA		1		1	SSTR4	HGNC	HGNC:11333	protein_coding	YES	CCDS42856.1	ENSP00000255008	P31391		UPI000013CE7A	NM_001052.2			1/1		Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF0,Prints_domain:PR00246																	LOW		SNV				1										PASS		rs1473912681	.												A	2	1	14	23036212	23036212	G	A	1	0	0	0	0	0	0	0	1	15577	1306	46	3		3	SSTR4	20	23036212	Silent	SNP	G	C3L-00279_TP	453988	23036212	41407955	610	6685											
CST1	0	.	GRCh38	chr20	23747848	23747848	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctggatttcaccagggAccttctgttctcccagggaa	9	10	9	13	0	3	0	1	0	2	0	4	3	3	3	4	3	0	1	4	3	1	3	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.394T>A	p.Ser132Thr	p.S132T	ENST00000304749	3/3	237	214	23	204	204	0	strelka-mutect	CST1,missense_variant,p.Ser132Thr,ENST00000304749,NM_001898.2;CST1,missense_variant,p.Ser132Thr,ENST00000398402,;	T	ENST00000304749	Transcript	missense_variant	465/760	394/426	132/141	S/T	Tcc/Acc		1		-1	CST1	HGNC	HGNC:2473	protein_coding	YES	CCDS13160.1	ENSP00000305731	P01037		UPI000013E9BC	NM_001898.2	tolerated(0.15)		3/3		hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF35,Gene3D:3.10.450.10,SMART_domains:SM00043,Superfamily_domains:SSF54403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	23747848	23747848	A	T	1	0	0	0	0	1	0	0	0	3770	275	10	4		4	CST1	20	23747848	Missense_Mutation	SNP	A	C3L-00279_TP	711636	23747848	40696319	611	6686											
SUN5	0	.	GRCh38	chr20	32985771	32985771	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggggcggtgtccaggcTgcctgacaatgagatggtct	6	10	16	9	1	1	2	0	2	1	1	2	3	2	2	2	5	1	1	2	5	1	1	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.862A>T	p.Ser288Cys	p.S288C	ENST00000356173	11/13	187	170	17	142	142	0	strelka-varscan-mutect	SUN5,missense_variant,p.Ser288Cys,ENST00000356173,NM_080675.3;SUN5,missense_variant,p.Ser263Cys,ENST00000375523,;	A	ENST00000356173	Transcript	missense_variant	955/1254	862/1140	288/379	S/C	Agc/Tgc		1		-1	SUN5	HGNC	HGNC:16252	protein_coding	YES	CCDS13209.1	ENSP00000348496	Q8TC36		UPI0000135D7C	NM_080675.3	deleterious(0.04)		11/13		Pfam_domain:PF07738,PROSITE_profiles:PS51469,hmmpanther:PTHR12911,hmmpanther:PTHR12911:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	32985771	32985771	T	A	1	0	0	0	0	1	0	0	0	15780	1580	55	4		4	SUN5	20	32985771	Missense_Mutation	SNP	T	C3L-00279_TP	9237923	32985771	31458396	612	6687											
EDEM2	0	.	GRCh38	chr20	35115802	35115802	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccatagggggtgatcacCgcgtcgaaggtggacccatt	8	8	13	12	3	1	1	1	1	0	0	3	3	2	2	4	4	0	0	4	4	2	2	rs746681749		C3L-00279_TP	C3L-00279_NB	C	C																c.1368G>T	p.=	p.A456A	ENST00000374492	11/11	326	288	38	299	299	0	strelka-varscan-mutect	EDEM2,synonymous_variant,p.=,ENST00000374492,NM_018217.2;EDEM2,synonymous_variant,p.=,ENST00000374491,NM_001145025.1;SNORD56,downstream_gene_variant,,ENST00000364281,;	A	ENST00000374492	Transcript	synonymous_variant	1474/1919	1368/1737	456/578	A	gcG/gcT	rs746681749	1		-1	EDEM2	HGNC	HGNC:15877	protein_coding	YES	CCDS13247.1	ENSP00000363616	Q9BV94		UPI00001285D9	NM_018217.2			11/11		hmmpanther:PTHR11742:SF41,hmmpanther:PTHR11742,Gene3D:1.50.10.50,Pfam_domain:PF01532,Superfamily_domains:SSF48225																	LOW	1	SNV	1			1										PASS		rs746681749	.												A	2	1	14	35115802	35115802	C	A	1	0	0	0	0	0	0	0	1	4740	639	23	1		1	EDEM2	20	35115802	Silent	SNP	C	C3L-00279_TP	2130031	35115802	29328365	613	6688											
SOGA1	0	.	GRCh38	chr20	36810104	36810104	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccagctgcagctcctTgatctgtggtacagacaggg	9	8	12	12	0	1	2	0	1	1	1	2	2	2	2	2	2	5	5	2	2	1	2	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.2461A>T	p.Lys821Ter	p.K821*	ENST00000237536	7/15	169	160	9	138	138	0	strelka-varscan-mutect	SOGA1,stop_gained,p.Lys821Ter,ENST00000237536,NM_080627.2;SOGA1,stop_gained,p.Lys583Ter,ENST00000279034,NM_199181.2;SOGA1,stop_gained,p.Lys435Ter,ENST00000465671,;	A	ENST00000237536	Transcript	stop_gained	2803/14371	2461/4986	821/1661	K/*	Aag/Tag		1		-1	SOGA1	HGNC	HGNC:16111	protein_coding	YES	CCDS54459.1	ENSP00000237536	O94964		UPI0000E5A319	NM_080627.2			7/15		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF1																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	14	36810104	36810104	T	A	1	0	0	0	0	0	1	0	0	15244	1826	63	4		4	SOGA1	20	36810104	Nonsense_Mutation	SNP	T	C3L-00279_TP	1694302	36810104	27634063	614	6689											
ARHGAP40	0	.	GRCh38	chr20	38649840	38649840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgggtccttaaacagaacCccacctaaaccctgcgagtc	12	7	8	14	1	0	1	0	0	0	1	2	2	1	1	5	1	4	0	5	1	5	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1861C>A	p.Pro621Thr	p.P621T	ENST00000373345	15/15	240	214	26	199	199	0	strelka-varscan-mutect	ARHGAP40,missense_variant,p.Pro621Thr,ENST00000373345,NM_001164431.1;ARHGAP40,missense_variant,p.Pro153Thr,ENST00000373346,;ARHGAP40,intron_variant,,ENST00000243967,;ARHGAP40,intron_variant,,ENST00000414158,;	A	ENST00000373345	Transcript	missense_variant	2029/2841	1861/1869	621/622	P/T	Ccc/Acc		1		1	ARHGAP40	HGNC	HGNC:16226	protein_coding	YES		ENSP00000362442	Q5TG30		UPI0000DD8570	NM_001164431.1	tolerated(0.07)		15/15		hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF4																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	14	38649840	38649840	C	A	1	0	0	0	0	1	0	0	0	1012	623	22	2		2	ARHGAP40	20	38649840	Missense_Mutation	SNP	C	C3L-00279_TP	1839736	38649840	25794327	615	6690											
FAM83D	0	.	GRCh38	chr20	38926478	38926478	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcctggacgaggtgccCgccgcctgcctgtcgccgtg	3	6	17	15	5	0	0	0	0	0	0	1	3	0	1	6	3	2	0	6	3	0	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.126C>A	p.=	p.P42P	ENST00000619304	1/4	161	152	9	136	136	0	strelka-varscan-mutect	FAM83D,synonymous_variant,p.=,ENST00000619304,;FAM83D,synonymous_variant,p.=,ENST00000217429,NM_030919.2;FAM83D,synonymous_variant,p.=,ENST00000619850,;PPP1R16B,downstream_gene_variant,,ENST00000299824,NM_015568.2;PPP1R16B,downstream_gene_variant,,ENST00000373331,NM_001172735.1;	A	ENST00000619304	Transcript	synonymous_variant	167/2475	126/1848	42/615	P	ccC/ccA		1		1	FAM83D	HGNC	HGNC:16122	protein_coding	YES	CCDS42872.1	ENSP00000481110		A0A087WXK8	UPI00004708E6				1/4		hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF7																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	38926478	38926478	C	A	1	0	0	0	0	0	0	0	1	5494	639	23	1		1	FAM83D	20	38926478	Silent	SNP	C	C3L-00279_TP	276638	38926478	25517689	616	6691											
DHX35	0	.	GRCh38	chr20	39023735	39023735	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggagggcgaccacctcActatgctcaatatatatgaa	13	9	10	9	1	2	1	2	1	0	0	2	4	2	3	2	3	1	1	2	3	6	4	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.1639A>T	p.Thr547Ser	p.T547S	ENST00000252011	17/22	171	154	17	123	123	0	strelka-varscan-mutect	DHX35,missense_variant,p.Thr547Ser,ENST00000252011,NM_021931.3;DHX35,missense_variant,p.Thr547Ser,ENST00000373325,;DHX35,missense_variant,p.Thr516Ser,ENST00000373323,NM_001190809.1;DHX35,intron_variant,,ENST00000449559,;DHX35,3_prime_UTR_variant,,ENST00000484417,;	T	ENST00000252011	Transcript	missense_variant	1672/3325	1639/2112	547/703	T/S	Act/Tct		1		1	DHX35	HGNC	HGNC:15861	protein_coding	YES	CCDS13310.1	ENSP00000252011	Q9H5Z1		UPI0000129088	NM_021931.3	deleterious(0.04)		17/22		Pfam_domain:PF04408,hmmpanther:PTHR18934,SMART_domains:SM00847,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	39023735	39023735	A	T	1	0	0	0	0	1	0	0	0	4312	159	6	4		4	DHX35	20	39023735	Missense_Mutation	SNP	A	C3L-00279_TP	97257	39023735	25420432	617	6692											
JPH2	0	.	GRCh38	chr20	44160057	44160057	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaggaagctgacacggcTgcgctggctacccacggacg	9	6	13	13	4	0	1	0	1	0	0	0	3	0	3	1	4	3	4	1	4	3	2	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.730A>T	p.Ser244Cys	p.S244C	ENST00000372980	2/6	504	434	70	518	518	0	strelka-varscan-mutect	JPH2,missense_variant,p.Ser244Cys,ENST00000372980,NM_020433.4;	A	ENST00000372980	Transcript	missense_variant	1603/4787	730/2091	244/696	S/C	Agc/Tgc		1		-1	JPH2	HGNC	HGNC:14202	protein_coding	YES	CCDS13325.1	ENSP00000362071	Q9BR39		UPI000012DAC2	NM_020433.4	deleterious(0)		2/6		hmmpanther:PTHR23085:SF5,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	14	44160057	44160057	T	A	1	0	0	0	0	1	0	0	0	7873	1580	55	4		4	JPH2	20	44160057	Missense_Mutation	SNP	T	C3L-00279_TP	5136322	44160057	20284110	618	6693											
SLC12A5	0	.	GRCh38	chr20	46053687	46053687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatcatttacgcatcactgCggaggtcgaggtggtggaga	9	10	15	7	3	2	1	2	0	0	1	3	4	2	2	0	5	2	2	0	5	2	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2726C>A	p.Ala909Glu	p.A909E	ENST00000454036	20/26	81	66	15	60	60	0	strelka-varscan-mutect	SLC12A5,missense_variant,p.Ala886Glu,ENST00000243964,NM_020708.4;SLC12A5,missense_variant,p.Ala909Glu,ENST00000454036,NM_001134771.1;SLC12A5,3_prime_UTR_variant,,ENST00000616933,;SLC12A5,intron_variant,,ENST00000616201,;SLC12A5,intron_variant,,ENST00000616202,;SLC12A5,intron_variant,,ENST00000626937,;SLC12A5,upstream_gene_variant,,ENST00000637437,;SLC12A5,downstream_gene_variant,,ENST00000539566,;SLC12A5,upstream_gene_variant,,ENST00000628413,;	A	ENST00000454036	Transcript	missense_variant	2802/3593	2726/3420	909/1139	A/E	gCg/gAg		1		1	SLC12A5	HGNC	HGNC:13818	protein_coding	YES	CCDS46610.1	ENSP00000387694	Q9H2X9		UPI00015F4605	NM_001134771.1	deleterious(0)		20/26		hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,Pfam_domain:PF03522,TIGRFAM_domain:TIGR00930																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	14	46053687	46053687	C	A	1	0	0	0	0	1	0	0	0	14651	768	27	1		1	SLC12A5	20	46053687	Missense_Mutation	SNP	C	C3L-00279_TP	1893630	46053687	18390480	619	6694											
GNAS	0	.	GRCh38	chr20	58910363	58910363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccggagaggacccacgcGtgacccgggccaagtacttc	9	4	13	15	4	0	2	0	1	0	1	1	4	0	3	4	3	2	1	4	3	2	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2929G>T	p.Val977Leu	p.V977L	ENST00000371100	12/13	530	486	44	448	448	0	strelka-varscan-mutect	GNAS,missense_variant,p.Val977Leu,ENST00000371100,NM_080425.2;GNAS,missense_variant,p.Val963Leu,ENST00000371102,;GNAS,missense_variant,p.Val335Leu,ENST00000354359,NM_001077488.2;GNAS,missense_variant,p.Val334Leu,ENST00000371085,NM_000516.4;GNAS,missense_variant,p.Val320Leu,ENST00000371095,NM_080426.2;GNAS,missense_variant,p.Val319Leu,ENST00000265620,NM_001077489.2;GNAS,missense_variant,p.Val98Leu,ENST00000306090,;GNAS,3_prime_UTR_variant,,ENST00000313949,;GNAS,3_prime_UTR_variant,,ENST00000371075,NM_016592.2;GNAS,downstream_gene_variant,,ENST00000419558,;GNAS,downstream_gene_variant,,ENST00000604005,;GNAS,downstream_gene_variant,,ENST00000450130,;GNAS,downstream_gene_variant,,ENST00000349036,;GNAS,downstream_gene_variant,,ENST00000603546,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,non_coding_transcript_exon_variant,,ENST00000477931,;GNAS,non_coding_transcript_exon_variant,,ENST00000480975,;GNAS,non_coding_transcript_exon_variant,,ENST00000488546,;GNAS,non_coding_transcript_exon_variant,,ENST00000494081,;GNAS,downstream_gene_variant,,ENST00000488652,;GNAS,downstream_gene_variant,,ENST00000470512,;GNAS,downstream_gene_variant,,ENST00000472183,;GNAS,downstream_gene_variant,,ENST00000480232,;GNAS,downstream_gene_variant,,ENST00000476935,;GNAS,downstream_gene_variant,,ENST00000492907,;GNAS,downstream_gene_variant,,ENST00000481039,;GNAS,downstream_gene_variant,,ENST00000467321,;GNAS,downstream_gene_variant,,ENST00000485673,;GNAS,downstream_gene_variant,,ENST00000482112,;GNAS,downstream_gene_variant,,ENST00000469431,;GNAS,downstream_gene_variant,,ENST00000490374,;GNAS,downstream_gene_variant,,ENST00000464788,;GNAS,downstream_gene_variant,,ENST00000468895,;GNAS,downstream_gene_variant,,ENST00000467227,;GNAS,downstream_gene_variant,,ENST00000478585,;GNAS,downstream_gene_variant,,ENST00000493958,;GNAS,non_coding_transcript_exon_variant,,ENST00000496934,;GNAS,non_coding_transcript_exon_variant,,ENST00000476196,;GNAS,non_coding_transcript_exon_variant,,ENST00000487862,;GNAS,non_coding_transcript_exon_variant,,ENST00000475610,;GNAS,downstream_gene_variant,,ENST00000487981,;GNAS,downstream_gene_variant,,ENST00000479025,;	T	ENST00000371100	Transcript	missense_variant	3481/4029	2929/3114	977/1037	V/L	Gtg/Ttg		1		1	GNAS	HGNC	HGNC:4392	protein_coding	YES	CCDS46622.1	ENSP00000360141	Q5JWF2		UPI0000E444AE	NM_080425.2	deleterious(0.01)		12/13		Gene3D:3.40.50.300,Pfam_domain:PF00503,Prints_domain:PR00443,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF36,SMART_domains:SM00275,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	58910363	58910363	G	T	1	0	0	0	0	1	0	0	0	6390	1145	40	1		1	GNAS	20	58910363	Missense_Mutation	SNP	G	C3L-00279_TP	12856676	58910363	5533804	620	6695											
ZNF831	0	.	GRCh38	chr20	59191527	59191527	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggtcccacacgggtgagAggcccttcccgtgtgccacc	5	7	12	17	3	0	1	0	1	0	1	3	2	3	1	6	3	1	0	6	3	0	1	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.508A>T	p.Arg170Trp	p.R170W	ENST00000637017	4/8	185	152	33	188	188	0	strelka-varscan-mutect	ZNF831,missense_variant,p.Arg170Trp,ENST00000637017,;ZNF831,missense_variant,p.Arg170Trp,ENST00000371030,NM_178457.2;	T	ENST00000637017	Transcript	missense_variant	2057/10953	508/5034	170/1677	R/W	Agg/Tgg		1		1	ZNF831	HGNC	HGNC:16167	protein_coding	YES	CCDS42894.1	ENSP00000490240			UPI00001D82E4		deleterious(0)		4/8		PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	14	59191527	59191527	A	T	1	0	0	0	0	1	0	0	0	18770	295	11	4		4	ZNF831	20	59191527	Missense_Mutation	SNP	A	C3L-00279_TP	281164	59191527	5252640	621	6696											
ZNF831	0	.	GRCh38	chr20	59253028	59253028	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcagaatcacctcctTgttgtgggaaggaagagaag	12	8	11	10	0	2	2	2	0	0	2	3	5	3	4	4	2	0	1	4	2	4	2	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.4078T>G	p.Cys1360Gly	p.C1360G	ENST00000637017	7/8	196	179	17	157	157	0	strelka-varscan-mutect	ZNF831,missense_variant,p.Cys1360Gly,ENST00000637017,;ZNF831,missense_variant,p.Cys1360Gly,ENST00000371030,NM_178457.2;	G	ENST00000637017	Transcript	missense_variant	5627/10953	4078/5034	1360/1677	C/G	Tgt/Ggt		1		1	ZNF831	HGNC	HGNC:16167	protein_coding	YES	CCDS42894.1	ENSP00000490240			UPI00001D82E4		tolerated(0.66)		7/8																			MODERATE	1	SNV				1										PASS		.	.												G	3	3	14	59253028	59253028	T	G	1	0	0	0	0	1	0	0	0	18770	1812	63	5		5	ZNF831	20	59253028	Missense_Mutation	SNP	T	C3L-00279_TP	61501	59253028	5191139	622	6697											
EDN3	0	.	GRCh38	chr20	59322412	59322412	+	Frame_Shift_Del	DEL	G	G	-																															aaacagacaaagaagaggaaGggaaggtgagaggtgccaac																								novel		C3L-00279_TP	C3L-00279_NB	G	G																c.585delG	p.Lys196ArgfsTer13	p.K196Rfs*13	ENST00000337938	4/5	452	409	43	340	340	0	sindel-varindel-pindel	EDN3,frameshift_variant,p.Lys196ArgfsTer2,ENST00000311585,NM_207032.2;EDN3,frameshift_variant,p.Lys196ArgfsTer13,ENST00000337938,NM_001302455.1,NM_207034.2;EDN3,frameshift_variant,p.Lys196ArgfsTer13,ENST00000371028,;EDN3,intron_variant,,ENST00000395654,NM_207033.2;EDN3,intron_variant,,ENST00000371025,NM_001302456.1;	-	ENST00000337938	Transcript	frameshift_variant	969/2636	583/717	195/238	G/X	Ggg/gg		1		1	EDN3	HGNC	HGNC:3178	protein_coding	YES	CCDS13477.1	ENSP00000337128	P14138		UPI000012A221	NM_001302455.1,NM_207034.2			4/5		Low_complexity_(Seg):seg,hmmpanther:PTHR13874,hmmpanther:PTHR13874:SF11																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	14	59322412	59322412	G	-	1	0	1	0	1	0	0	0	0	4746	1014	35	0		0	EDN3	20	59322412	Frame_Shift_Del	DEL	G	C3L-00279_TP	69384	59322412	5121755	623	6698											
KCNQ2	0	.	GRCh38	chr20	63406799	63406799	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaaggcgccacggccgCgtagcagctgttgagagcat	9	5	15	12	4	0	1	0	1	0	1	0	2	0	1	2	3	3	6	2	3	2	2	rs751425807		C3L-00279_TP	C3L-00279_NB	C	C																c.2464G>T	p.Ala822Ser	p.A822S	ENST00000359125	17/17	670	545	125	583	583	0	strelka-varscan-mutect	KCNQ2,missense_variant,p.Ala804Ser,ENST00000626839,NM_172106.1;KCNQ2,missense_variant,p.Ala822Ser,ENST00000359125,NM_172107.2;KCNQ2,missense_variant,p.Ala621Ser,ENST00000637193,;KCNQ2,missense_variant,p.Ala794Ser,ENST00000360480,NM_004518.4;KCNQ2,missense_variant,p.Ala791Ser,ENST00000344462,NM_172108.3;KCNQ2,missense_variant,p.Ala678Ser,ENST00000357249,;KCNQ2,intron_variant,,ENST00000370224,;KCNQ2,intron_variant,,ENST00000625514,;KCNQ2,intron_variant,,ENST00000629241,;KCNQ2,intron_variant,,ENST00000629676,;KCNQ2,downstream_gene_variant,,ENST00000636614,;KCNQ2,downstream_gene_variant,,ENST00000637063,;KCNQ2,downstream_gene_variant,,ENST00000637338,;KCNQ2,downstream_gene_variant,,ENST00000637656,;	A	ENST00000359125	Transcript	missense_variant	2591/3253	2464/2619	822/872	A/S	Gcg/Tcg	rs751425807	1		-1	KCNQ2	HGNC	HGNC:6296	protein_coding	YES	CCDS13520.1	ENSP00000352035	O43526		UPI00001279ED	NM_172107.2	tolerated_low_confidence(0.36)		17/17		Pfam_domain:PF11956																	MODERATE	1	SNV	1			1										PASS		rs751425807	.												A	3	1	14	63406799	63406799	C	A	1	0	0	0	0	1	0	0	0	7999	768	27	1		1	KCNQ2	20	63406799	Missense_Mutation	SNP	C	C3L-00279_TP	4084387	63406799	1037368	624	6699											
NPBWR2	0	.	GRCh38	chr20	64106806	64106806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggagcccctgctgtcaaggGgctctgggtgcccagcggcc	5	6	16	14	1	2	0	1	0	1	0	2	1	2	1	4	5	4	2	4	5	1	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.26C>A	p.Pro9His	p.P9H	ENST00000369768	1/1	168	153	15	130	130	0	strelka-varscan-mutect	NPBWR2,missense_variant,p.Pro9His,ENST00000369768,NM_005286.2;	T	ENST00000369768	Transcript	missense_variant	366/1352	26/1002	9/333	P/H	cCc/cAc		1		-1	NPBWR2	HGNC	HGNC:4530	protein_coding	YES	CCDS13557.1	ENSP00000358783	P48146		UPI000013CBB3	NM_005286.2	tolerated(0.07)		1/1		hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF18																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	14	64106806	64106806	G	T	1	0	0	0	0	1	0	0	0	10617	1232	43	2		2	NPBWR2	20	64106806	Missense_Mutation	SNP	G	C3L-00279_TP	700007	64106806	337361	625	6700											
PCMTD2	0	.	GRCh38	chr20	64273534	64273534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgaacttcctacgccaGaaggtcctgagcctccctct	8	9	8	16	1	1	3	0	2	1	1	4	3	4	3	6	1	3	0	6	1	3	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1020G>T	p.Gln340His	p.Q340H	ENST00000308824	6/6	55	47	8	42	42	0	strelka-varscan-mutect	PCMTD2,missense_variant,p.Gln340His,ENST00000308824,NM_018257.2;PCMTD2,missense_variant,p.Gln313His,ENST00000369758,NM_001104925.1;PCMTD2,missense_variant,p.Gln190His,ENST00000609372,;PCMTD2,missense_variant,p.Gln180His,ENST00000609818,;PCMTD2,intron_variant,,ENST00000299468,;PCMTD2,non_coding_transcript_exon_variant,,ENST00000266078,;RP11-476I15.5,upstream_gene_variant,,ENST00000614601,;	T	ENST00000308824	Transcript	missense_variant	1147/3843	1020/1086	340/361	Q/H	caG/caT		1		1	PCMTD2	HGNC	HGNC:15882	protein_coding	YES	CCDS13559.1	ENSP00000307854	Q9NV79		UPI0000049C88	NM_018257.2	deleterious_low_confidence(0)		6/6		hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF2																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	14	64273534	64273534	G	T	1	0	0	0	0	1	0	0	0	11675	933	33	2		2	PCMTD2	20	64273534	Missense_Mutation	SNP	G	C3L-00279_TP	166728	64273534	170633	626	6701											
TIAM1	0	.	GRCh38	chr21	31266717	31266717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacccagatggggctccCgaagtcttctagggtaccat	8	9	11	13	1	2	1	0	0	2	1	4	2	4	1	4	3	1	2	4	3	3	3	rs751635033		C3L-00279_TP	C3L-00279_NB	C	C																c.256G>T	p.Gly86Trp	p.G86W	ENST00000286827	5/29	383	345	38	350	349	1	strelka-varscan-mutect	TIAM1,missense_variant,p.Gly86Trp,ENST00000286827,NM_003253.2;TIAM1,missense_variant,p.Gly86Trp,ENST00000541036,;TIAM1,missense_variant,p.Gly86Trp,ENST00000455508,;TIAM1,intron_variant,,ENST00000469412,;	A	ENST00000286827	Transcript	missense_variant	728/7200	256/4776	86/1591	G/W	Ggg/Tgg	rs751635033,COSM3389970,COSM3389971	1		-1	TIAM1	HGNC	HGNC:11805	protein_coding	YES	CCDS13609.1	ENSP00000286827	Q13009		UPI000013DE6F	NM_003253.2	deleterious_low_confidence(0)		5/29		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF88											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs751635033	.												A	3	1	14	31266717	31266717	C	A	1	0	0	0	0	1	0	0	0	16324	652	23	1		1	TIAM1	21	31266717	Missense_Mutation	SNP	C	C3L-00279_TP		31266717	15443266	627	6702											
HUNK	0	.	GRCh38	chr21	31924747	31924747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagcacctgcaccgggccGgggtggtccacaggtaaggg	8	5	17	11	2	0	1	0	0	0	1	1	1	1	1	4	6	2	3	4	6	2	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.541G>T	p.Gly181Trp	p.G181W	ENST00000270112	2/11	78	61	17	76	76	0	strelka-varscan-mutect	HUNK,missense_variant,p.Gly181Trp,ENST00000270112,NM_014586.1;HUNK,missense_variant,p.Gly66Trp,ENST00000430354,;	T	ENST00000270112	Transcript	missense_variant	901/7385	541/2145	181/714	G/W	Ggg/Tgg		1		1	HUNK	HGNC	HGNC:13326	protein_coding	YES	CCDS13610.1	ENSP00000270112	P57058		UPI0000035B66	NM_014586.1	deleterious(0)		2/11		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF188,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs1233238090	.												T	3	4	14	31924747	31924747	G	T	1	0	0	0	0	1	0	0	0	7354	1116	39	1		1	HUNK	21	31924747	Missense_Mutation	SNP	G	C3L-00279_TP	658030	31924747	14785236	628	6703											
URB1	0	.	GRCh38	chr21	32319239	32319239	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcttcatgagcacgaTgagaacataaaggaactcat	15	8	10	8	1	2	2	2	2	0	1	2	5	2	3	0	2	4	2	0	2	4	2	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.5770A>T	p.Ile1924Phe	p.I1924F	ENST00000382751	36/39	167	144	23	220	220	0	strelka-varscan-mutect	URB1,missense_variant,p.Ile1924Phe,ENST00000382751,NM_014825.2;MRAP,downstream_gene_variant,,ENST00000339944,NM_206898.1;	A	ENST00000382751	Transcript	missense_variant	5886/10832	5770/6816	1924/2271	I/F	Atc/Ttc		1		-1	URB1	HGNC	HGNC:17344	protein_coding	YES	CCDS46645.1	ENSP00000372199	O60287		UPI0000185F65	NM_014825.2	deleterious(0.02)		36/39		hmmpanther:PTHR13500																	MODERATE	1	SNV	1			1										PASS		rs1363263282	.												A	3	1	14	32319239	32319239	T	A	1	0	0	0	0	1	0	0	0	17554	1464	51	4		4	URB1	21	32319239	Missense_Mutation	SNP	T	C3L-00279_TP	394492	32319239	14390744	629	6704											
DSCAM	0	.	GRCh38	chr21	40178981	40178981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctcgctcttgccaatccGgttcttggcgtacatgcgga	5	11	13	12	4	2	0	0	0	2	0	4	1	3	1	2	4	3	4	2	4	2	4	rs747965562		C3L-00279_TP	C3L-00279_NB	G	G																c.2893C>T	p.Arg965Trp	p.R965W	ENST00000400454	15/33	512	474	38	494	493	1	strelka-varscan-mutect	DSCAM,missense_variant,p.Arg965Trp,ENST00000400454,NM_001389.3,NM_001271534.1;DSCAM,missense_variant,p.Arg800Trp,ENST00000617870,;DSCAM,missense_variant,p.Arg717Trp,ENST00000404019,;	A	ENST00000400454	Transcript	missense_variant	3371/8552	2893/6039	965/2012	R/W	Cgg/Tgg	rs747965562,COSM5434121	1		-1	DSCAM	HGNC	HGNC:3039	protein_coding	YES	CCDS42929.1	ENSP00000383303	O60469		UPI00000422DF	NM_001389.3,NM_001271534.1	deleterious(0.01)		15/33		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs747965562	.												A	3	1	14	40178981	40178981	G	A	1	0	0	0	0	1	0	0	0	4589	1115	39	1		1	DSCAM	21	40178981	Missense_Mutation	SNP	G	C3L-00279_TP	7859742	40178981	6531002	630	6705											
KRTAP10-9	0	.	GRCh38	chr21	44627789	44627789	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctgctctggggcttcCtctttgtgctgccagcagtc	2	14	11	14	0	3	0	0	0	3	0	5	0	4	0	3	2	4	4	3	2	0	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.618C>A	p.=	p.S206S	ENST00000397911	1/1	743	665	78	596	594	2	strelka-varscan-mutect	KRTAP10-9,synonymous_variant,p.=,ENST00000397911,NM_198690.2;KRTAP10-9,synonymous_variant,p.=,ENST00000616529,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;KRTAP10-9,intron_variant,,ENST00000484861,;	A	ENST00000397911	Transcript	synonymous_variant	667/1171	618/879	206/292	S	tcC/tcA		1		1	KRTAP10-9	HGNC	HGNC:22971	protein_coding	YES	CCDS42961.1	ENSP00000381009	P60411		UPI000036709D	NM_198690.2			1/1		Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF72																	LOW		SNV				1										PASS		.	.												A	2	1	14	44627789	44627789	C	A	1	0	0	0	0	0	0	0	1	8399	668	24	2		2	KRTAP10-9	21	44627789	Silent	SNP	C	C3L-00279_TP	4448808	44627789	2082194	631	6706											
UBE2G2	0	.	GRCh38	chr21	44773606	44773606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgcacaggactccacCgctccgcgctgctctcgtag	6	8	9	18	4	2	0	0	0	2	0	5	1	4	1	3	1	2	5	3	1	1	1	rs782417629		C3L-00279_TP	C3L-00279_NB	C	C																c.326G>T	p.Arg109Leu	p.R109L	ENST00000345496	5/6	260	229	31	191	191	0	strelka-varscan-mutect	UBE2G2,missense_variant,p.Arg109Leu,ENST00000345496,NM_003343.5;UBE2G2,missense_variant,p.Arg81Leu,ENST00000330942,NM_182688.2;UBE2G2,non_coding_transcript_exon_variant,,ENST00000477954,;UBE2G2,non_coding_transcript_exon_variant,,ENST00000497630,;UBE2G2,downstream_gene_variant,,ENST00000497664,;UBE2G2,downstream_gene_variant,,ENST00000490450,;UBE2G2,downstream_gene_variant,,ENST00000496395,;UBE2G2,3_prime_UTR_variant,,ENST00000491513,;UBE2G2,3_prime_UTR_variant,,ENST00000478200,;UBE2G2,non_coding_transcript_exon_variant,,ENST00000481546,;UBE2G2,downstream_gene_variant,,ENST00000462569,;	A	ENST00000345496	Transcript	missense_variant	597/3566	326/498	109/165	R/L	cGg/cTg	rs782417629	1		-1	UBE2G2	HGNC	HGNC:12483	protein_coding	YES	CCDS13714.1	ENSP00000338348	P60604		UPI0000027925	NM_003343.5	deleterious(0)		5/6		Gene3D:3.10.110.10,Pfam_domain:PF00179,PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF154,SMART_domains:SM00212,Superfamily_domains:SSF54495																	MODERATE	1	SNV	1			1										PASS		rs782417629	.												A	3	1	14	44773606	44773606	C	A	1	0	0	0	0	1	0	0	0	17378	652	23	1		1	UBE2G2	21	44773606	Missense_Mutation	SNP	C	C3L-00279_TP	145817	44773606	1936377	632	6707											
PEX26	0	.	GRCh38	chr22	18083579	18083579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcgggtgctgctgcctctgGgctgcttatcggaggctgag	4	10	17	10	2	1	1	0	1	1	0	2	2	1	2	1	4	5	5	1	4	1	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.514G>T	p.Gly172Cys	p.G172C	ENST00000329627	4/6	544	477	67	484	484	0	strelka-varscan-mutect	PEX26,missense_variant,p.Gly172Cys,ENST00000329627,NM_017929.5;PEX26,missense_variant,p.Gly172Cys,ENST00000610387,NM_001199319.1;PEX26,missense_variant,p.Gly172Cys,ENST00000399744,NM_001127649.2;PEX26,missense_variant,p.Gly172Cys,ENST00000428061,;XXbac-B476C20.9,upstream_gene_variant,,ENST00000607927,;XXbac-B476C20.9,upstream_gene_variant,,ENST00000622035,;PEX26,intron_variant,,ENST00000474897,;XXbac-B476C20.11,upstream_gene_variant,,ENST00000427227,;	T	ENST00000329627	Transcript	missense_variant	720/18445	514/918	172/305	G/C	Ggc/Tgc		1		1	PEX26	HGNC	HGNC:22965	protein_coding	YES	CCDS13750.1	ENSP00000331106	Q7Z412	A0A024R100	UPI000000DBD1	NM_017929.5	deleterious(0)		4/6		hmmpanther:PTHR16262,hmmpanther:PTHR16262:SF2,Pfam_domain:PF07163																	MODERATE	1	SNV	1			1										PASS		rs773583223	.												T	3	4	14	18083579	18083579	G	T	1	0	0	0	0	1	0	0	0	11836	1232	43	2		2	PEX26	22	18083579	Missense_Mutation	SNP	G	C3L-00279_TP		18083579	32734889	633	6708											
BCR	0	.	GRCh38	chr22	23315456	23315456	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgctgctgtacttcctGcagctggaggccatccctgc	5	10	12	14	0	0	0	0	0	0	0	2	1	2	1	3	3	6	5	3	3	1	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.3750G>T	p.=	p.L1250L	ENST00000305877	23/23	274	243	31	271	271	0	strelka-varscan-mutect	BCR,synonymous_variant,p.=,ENST00000305877,NM_004327.3;BCR,synonymous_variant,p.=,ENST00000359540,NM_021574.2;BCR,3_prime_UTR_variant,,ENST00000398512,;BCR,non_coding_transcript_exon_variant,,ENST00000436990,;BCR,downstream_gene_variant,,ENST00000458056,;BCR,downstream_gene_variant,,ENST00000475025,;	T	ENST00000305877	Transcript	synonymous_variant	4501/7082	3750/3816	1250/1271	L	ctG/ctT		1		1	BCR	HGNC	HGNC:1014	protein_coding	YES	CCDS13806.1	ENSP00000303507	P11274		UPI000016A088	NM_004327.3			23/23		hmmpanther:PTHR23182,hmmpanther:PTHR23182:SF3																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	23315456	23315456	G	T	1	0	0	0	0	0	0	0	1	1535	1306	46	2		2	BCR	22	23315456	Silent	SNP	G	C3L-00279_TP	5231877	23315456	27503012	634	6709											
CRYBB1	0	.	GRCh38	chr22	26616301	26616301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgtggccgaggccgaggCctttgcagcctgagacatgg	7	7	15	12	2	0	1	0	1	0	1	0	4	0	1	4	4	2	1	4	4	0	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.19G>T	p.Ala7Ser	p.A7S	ENST00000215939	2/6	297	257	40	355	355	0	strelka-varscan-mutect	CRYBB1,missense_variant,p.Ala7Ser,ENST00000215939,NM_001887.3;	A	ENST00000215939	Transcript	missense_variant	150/1102	19/759	7/252	A/S	Gcc/Tcc		1		-1	CRYBB1	HGNC	HGNC:2397	protein_coding	YES	CCDS13840.1	ENSP00000215939	P53674		UPI000000165D	NM_001887.3	tolerated_low_confidence(0.29)		2/6		Low_complexity_(Seg):seg,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	26616301	26616301	C	A	1	0	0	0	0	1	0	0	0	3712	739	26	2		2	CRYBB1	22	26616301	Missense_Mutation	SNP	C	C3L-00279_TP	3300845	26616301	24202167	635	6710											
SFI1	0	.	GRCh38	chr22	31528842	31528842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttgtacccgacagggccGgttaagagaactgcgcatca	11	8	11	11	3	1	1	1	0	0	1	1	3	1	1	2	2	4	3	2	2	4	4	rs368077396		C3L-00279_TP	C3L-00279_NB	G	G																c.245G>T	p.Arg82Leu	p.R82L	ENST00000400288	3/33	112	100	12	102	102	0	strelka-mutect	SFI1,missense_variant,p.Arg82Leu,ENST00000540643,NM_001258325.1;SFI1,missense_variant,p.Arg82Leu,ENST00000432498,NM_014775.3;SFI1,missense_variant,p.Arg82Leu,ENST00000400288,NM_001007467.2;SFI1,missense_variant,p.Arg33Leu,ENST00000450787,;SFI1,missense_variant,p.Arg82Leu,ENST00000629688,;SFI1,intron_variant,,ENST00000400289,NM_001258326.1,NM_001258327.1;SFI1,intron_variant,,ENST00000443011,;SFI1,downstream_gene_variant,,ENST00000444859,;SFI1,non_coding_transcript_exon_variant,,ENST00000465646,;SFI1,non_coding_transcript_exon_variant,,ENST00000465437,;SFI1,missense_variant,p.Arg82Leu,ENST00000524296,;SFI1,missense_variant,p.Arg82Leu,ENST00000411518,;SFI1,non_coding_transcript_exon_variant,,ENST00000382162,;SFI1,non_coding_transcript_exon_variant,,ENST00000486708,;DRG1,downstream_gene_variant,,ENST00000548143,;	T	ENST00000400288	Transcript	missense_variant	350/4002	245/3729	82/1242	R/L	cGg/cTg	rs368077396	1		1	SFI1	HGNC	HGNC:29064	protein_coding	YES	CCDS43004.1	ENSP00000383145	A8K8P3		UPI00004703B1	NM_001007467.2	deleterious(0)		3/33		hmmpanther:PTHR22028,hmmpanther:PTHR22028:SF4																	MODERATE	1	SNV	2			1										PASS		rs368077396	.												T	3	4	14	31528842	31528842	G	T	1	0	0	0	0	1	0	0	0	14434	1116	39	1		1	SFI1	22	31528842	Missense_Mutation	SNP	G	C3L-00279_TP	4912541	31528842	19289626	636	6711											
YWHAH	0	.	GRCh38	chr22	31956690	31956690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggacacactaaacgaGgattcctataaggactccac	14	7	9	11	1	0	0	0	0	0	0	2	5	2	3	2	3	2	1	2	3	4	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.639G>T	p.Glu213Asp	p.E213D	ENST00000248975	2/2	289	235	54	302	301	1	strelka-varscan-mutect	YWHAH,missense_variant,p.Glu213Asp,ENST00000248975,NM_003405.3;YWHAH,3_prime_UTR_variant,,ENST00000397492,;YWHAH,downstream_gene_variant,,ENST00000420430,;YWHAH,non_coding_transcript_exon_variant,,ENST00000471374,;YWHAH,downstream_gene_variant,,ENST00000479649,;YWHAH,downstream_gene_variant,,ENST00000443669,;	T	ENST00000248975	Transcript	missense_variant	912/1825	639/741	213/246	E/D	gaG/gaT		1		1	YWHAH	HGNC	HGNC:12853	protein_coding	YES	CCDS13901.1	ENSP00000248975	Q04917	A0A024R1K7	UPI000013CC64	NM_003405.3	deleterious_low_confidence(0.02)		2/2		hmmpanther:PTHR18860,hmmpanther:PTHR18860:SF16,Pfam_domain:PF00244,Gene3D:3iquA00,PIRSF_domain:PIRSF000868,SMART_domains:SM00101,Superfamily_domains:SSF48445,Prints_domain:PR00305																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	31956690	31956690	G	T	1	0	0	0	0	1	0	0	0	18065	991	35	2		2	YWHAH	22	31956690	Missense_Mutation	SNP	G	C3L-00279_TP	427848	31956690	18861778	637	6712											
MXRA5	0	.	GRCh38	chrX	3311318	3311318	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatagcgcttggtgcgtccAccgctgtcatccgactgcat	7	10	10	14	4	1	0	1	0	0	0	3	1	3	0	3	1	3	3	3	1	1	2	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.6885T>A	p.=	p.G2295G	ENST00000217939	7/7	438	401	37	442	442	0	strelka-varscan-mutect	MXRA5,synonymous_variant,p.=,ENST00000217939,NM_015419.3;	T	ENST00000217939	Transcript	synonymous_variant	7040/9793	6885/8487	2295/2828	G	ggT/ggA		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3			7/7		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		rs1276817050	.												T	2	4	14	3311318	3311318	A	T	1	0	0	0	0	0	0	0	1	10002	146	6	4		4	MXRA5	23	3311318	Silent	SNP	A	C3L-00279_TP		3311318	152729577	638	6713											
EGFL6	0	.	GRCh38	chrX	13617756	13617756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaattctgtgaaggaaGtcctcagagcacctggtacc	12	9	10	10	0	2	3	1	2	1	1	3	4	3	4	3	2	2	2	3	2	5	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.805G>T	p.Val269Phe	p.V269F	ENST00000380602	8/12	115	101	14	65	65	0	strelka-varscan-mutect	EGFL6,missense_variant,p.Val269Phe,ENST00000361306,NM_015507.3;EGFL6,missense_variant,p.Val269Phe,ENST00000380602,NM_001167890.1;	T	ENST00000380602	Transcript	missense_variant	1045/2385	805/1665	269/554	V/F	Gtc/Ttc		1		1	EGFL6	HGNC	HGNC:3235	protein_coding	YES	CCDS55370.1	ENSP00000369976	Q8IUX8		UPI0000034CAE	NM_001167890.1	tolerated(0.65)		8/12		hmmpanther:PTHR24050,hmmpanther:PTHR24050:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	13617756	13617756	G	T	1	0	0	0	0	1	0	0	0	4799	1029	36	2		2	EGFL6	23	13617756	Missense_Mutation	SNP	G	C3L-00279_TP	10306438	13617756	142423139	639	6714											
FANCB	0	.	GRCh38	chrX	14843730	14843730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggatggatattttccCttctgtctgataaagcagcc	9	14	10	8	0	2	1	0	1	2	0	3	3	3	3	2	2	2	2	2	2	4	6	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.2417G>A	p.Arg806Lys	p.R806K	ENST00000398334	10/10	283	266	17	134	134	0	strelka-varscan-mutect	FANCB,missense_variant,p.Arg806Lys,ENST00000398334,NM_001324162.1,NM_001018113.1;FANCB,missense_variant,p.Arg806Lys,ENST00000324138,NM_152633.2;FANCB,missense_variant,p.Arg806Lys,ENST00000452869,;	T	ENST00000398334	Transcript	missense_variant	2685/3008	2417/2580	806/859	R/K	aGg/aAg		1		-1	FANCB	HGNC	HGNC:3583	protein_coding	YES	CCDS14161.1	ENSP00000381378	Q8NB91	A0A024RBW1	UPI000006E70A	NM_001324162.1,NM_001018113.1	tolerated(0.49)		10/10		hmmpanther:PTHR28450																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	14843730	14843730	C	T	1	0	0	0	0	1	0	0	0	5522	681	24	3		3	FANCB	23	14843730	Missense_Mutation	SNP	C	C3L-00279_TP	1225974	14843730	141197165	640	6715											
ACE2	0	.	GRCh38	chrX	15591813	15591813	+	Silent	SNP	C	C	T																															cagctttcccaagcccagagCctctcattgtagtctaaact																								novel		C3L-00279_TP	C3L-00279_NB	C	C																c.483G>A	p.=	p.R161R	ENST00000427411	5/19	239	219	20	205	205	0	strelka-varscan-mutect	ACE2,synonymous_variant,p.=,ENST00000427411,NM_021804.2;ACE2,synonymous_variant,p.=,ENST00000252519,;ACE2,downstream_gene_variant,,ENST00000484756,;	T	ENST00000427411	Transcript	synonymous_variant	700/3507	483/2418	161/805	R	agG/agA		1		-1	ACE2	HGNC	HGNC:13557	protein_coding	YES	CCDS14169.1	ENSP00000389326	Q9BYF1		UPI000000D907	NM_021804.2			5/19		hmmpanther:PTHR10514,hmmpanther:PTHR10514:SF24,Pfam_domain:PF01401,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	15591813	15591813	C	T	1	0	0	0	0	0	0	0	1	175	738	26	3		3	ACE2	23	15591813	Silent	SNP	C	C3L-00279_TP	748083	15591813	140449082	641	6716	154	2									
ACE2	0	.	GRCh38	chrX	15591814	15591814	+	Missense_Mutation	SNP	C	C	T																															agctttcccaagcccagagcCtctcattgtagtctaaactg																								novel		C3L-00279_TP	C3L-00279_NB	C	C																c.482G>A	p.Arg161Lys	p.R161K	ENST00000427411	5/19	238	220	18	204	204	0	strelka-varscan-mutect	ACE2,missense_variant,p.Arg161Lys,ENST00000427411,NM_021804.2;ACE2,missense_variant,p.Arg161Lys,ENST00000252519,;ACE2,downstream_gene_variant,,ENST00000484756,;	T	ENST00000427411	Transcript	missense_variant	699/3507	482/2418	161/805	R/K	aGg/aAg		1		-1	ACE2	HGNC	HGNC:13557	protein_coding	YES	CCDS14169.1	ENSP00000389326	Q9BYF1		UPI000000D907	NM_021804.2	tolerated(0.65)		5/19		hmmpanther:PTHR10514,hmmpanther:PTHR10514:SF24,Pfam_domain:PF01401,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	15591814	15591814	C	T	1	0	0	0	0	1	0	0	0	175	681	24	3		3	ACE2	23	15591814	Missense_Mutation	SNP	C	C3L-00279_TP	1	15591814	140449081	642	6717	154	2									
BEND2	0	.	GRCh38	chrX	18201925	18201925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttactgctgtttgctGgtctttctggcatttctgta	3	22	9	7	0	3	0	0	0	3	0	3	0	3	0	0	2	3	6	0	2	2	7	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.923C>T	p.Pro308Leu	p.P308L	ENST00000380033	6/14	187	175	12	135	135	0	strelka-varscan-mutect	BEND2,missense_variant,p.Pro308Leu,ENST00000380033,NM_153346.4;BEND2,intron_variant,,ENST00000380030,NM_001184767.1;	A	ENST00000380033	Transcript	missense_variant	1056/4611	923/2400	308/799	P/L	cCa/cTa		1		-1	BEND2	HGNC	HGNC:28509	protein_coding	YES	CCDS14184.1	ENSP00000369372	Q8NDZ0		UPI000013FE0F	NM_153346.4	tolerated(0.06)		6/14																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	18201925	18201925	G	A	1	0	0	0	0	1	0	0	0	1546	1348	47	3		3	BEND2	23	18201925	Missense_Mutation	SNP	G	C3L-00279_TP	2610111	18201925	137838970	643	6718											
MAGEB6	0	.	GRCh38	chrX	26194041	26194041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccattcctcaggagtctcaGggagtgtcacccactgggtc	7	10	11	13	0	3	0	3	0	1	0	7	2	5	2	3	3	0	0	3	3	0	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.195G>T	p.Gln65His	p.Q65H	ENST00000379034	2/2	200	185	15	189	189	0	strelka-varscan-mutect	MAGEB6,missense_variant,p.Gln65His,ENST00000379034,NM_173523.2;	T	ENST00000379034	Transcript	missense_variant	344/1949	195/1224	65/407	Q/H	caG/caT		1		1	MAGEB6	HGNC	HGNC:23796	protein_coding	YES	CCDS14217.1	ENSP00000368320	Q8N7X4		UPI00001413F4	NM_173523.2	deleterious(0.03)		2/2		hmmpanther:PTHR11736:SF80,hmmpanther:PTHR11736,Pfam_domain:PF12440,SMART_domains:SM01392																	MODERATE	1	SNV	1			1										PASS		rs1053594324	.												T	3	4	14	26194041	26194041	G	T	1	0	0	0	0	1	0	0	0	9096	991	35	2		2	MAGEB6	23	26194041	Missense_Mutation	SNP	G	C3L-00279_TP	7992116	26194041	129846854	644	6719											
NR0B1	0	.	GRCh38	chrX	30304739	30304739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatggggcccttggtgcGtcatcctggtgtgttcactg	3	14	14	10	1	3	0	3	0	0	0	4	0	4	0	2	4	1	1	2	4	0	2	rs140730327		C3L-00279_TP	C3L-00279_NB	G	G																c.1253C>T	p.Thr418Met	p.T418M	ENST00000378970	2/2	389	350	39	310	308	2	strelka-varscan-mutect	NR0B1,missense_variant,p.Thr418Met,ENST00000378970,NM_000475.4;NR0B1,downstream_gene_variant,,ENST00000378963,;	A	ENST00000378970	Transcript	missense_variant	1488/2021	1253/1413	418/470	T/M	aCg/aTg	rs140730327,COSM1119896	1		-1	NR0B1	HGNC	HGNC:7960	protein_coding	YES	CCDS14223.1	ENSP00000368253	P51843	F1D8P4	UPI0000128ED4	NM_000475.4	tolerated(0.37)		2/2		hmmpanther:PTHR24081:SF1,hmmpanther:PTHR24081,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs140730327	.												A	3	1	14	30304739	30304739	G	A	1	0	0	0	0	1	0	0	0	10669	1145	40	1		1	NR0B1	23	30304739	Missense_Mutation	SNP	G	C3L-00279_TP	4110698	30304739	125736156	645	6720											
FAM47A	0	.	GRCh38	chrX	34130838	34130838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgacgtgtcttgggatgttCcgggtggggatgggacacct	5	10	17	9	3	1	0	0	0	1	0	2	4	2	3	3	5	0	1	3	5	0	2			C3L-00279_TP	C3L-00279_NB	C	C																c.1441G>A	p.Glu481Lys	p.E481K	ENST00000346193	1/1	69	64	5	80	80	0	strelka-varscan-mutect	FAM47A,missense_variant,p.Glu481Lys,ENST00000346193,NM_203408.3;FAM47A,missense_variant,p.Glu481Lys,ENST00000613251,;	T	ENST00000346193	Transcript	missense_variant	1474/2556	1441/2376	481/791	E/K	Gaa/Aaa	COSM3561306	1		-1	FAM47A	HGNC	HGNC:29962	protein_coding	YES	CCDS43926.1	ENSP00000345029	Q5JRC9		UPI000013F1F4	NM_203408.3	deleterious(0.01)		1/1		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF200,Pfam_domain:PF14642											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	14	34130838	34130838	C	T	1	0	0	0	0	1	0	0	0	5447	864	30	3		3	FAM47A	23	34130838	Missense_Mutation	SNP	C	C3L-00279_TP	3826099	34130838	121910057	646	6721											
CFAP47	0	.	GRCh38	chrX	36236807	36236807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcaagtggggaatgtgaCacaaaagcatataacattgc	16	9	10	6	0	1	1	1	1	0	0	1	2	1	2	0	2	3	1	0	2	6	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.7280C>T	p.Thr2427Ile	p.T2427I	ENST00000378653	48/64	111	92	19	83	83	0	strelka-varscan-mutect	CFAP47,missense_variant,p.Thr2427Ile,ENST00000378653,NM_001304548.1;	T	ENST00000378653	Transcript	missense_variant	7346/9943	7280/9564	2427/3187	T/I	aCa/aTa		1		1	CFAP47	HGNC	HGNC:26708	protein_coding			ENSP00000367922		A0A140T8X2	UPI000596DACD	NM_001304548.1	tolerated(0.38)		48/64		hmmpanther:PTHR23053																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	36236807	36236807	C	T	1	0	0	0	0	1	0	0	0	3022	478	17	3		3	CFAP47	23	36236807	Missense_Mutation	SNP	C	C3L-00279_TP	2105969	36236807	119804088	647	6722											
FAM47C	0	.	GRCh38	chrX	37009485	37009485	+	Frame_Shift_Del	DEL	C	C	-																															cccatctctgcccggaacctCcagagactcgcgtatctcct																										C3L-00279_TP	C3L-00279_NB	C	C																c.1076delC	p.Pro359GlnfsTer466	p.P359Qfs*466	ENST00000358047	1/1	357	321	36	328	328	0	sindel-varindel-pindel	FAM47C,frameshift_variant,p.Pro359GlnfsTer466,ENST00000358047,NM_001013736.2;	-	ENST00000358047	Transcript	frameshift_variant	1089/3270	1075/3108	359/1035	P/X	Cca/ca	COSM1714861,COSM1714862	1		1	FAM47C	HGNC	HGNC:25301	protein_coding	YES	CCDS35227.1	ENSP00000367913	Q5HY64		UPI000041ABF8	NM_001013736.2			1/1		hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642											1,1						HIGH	1	deletion		1	1,1	1										PASS		.	.												-	7	5	14	37009485	37009485	C	-	1	0	1	0	1	0	0	0	0	5449	855	30	0		0	FAM47C	23	37009485	Frame_Shift_Del	DEL	C	C3L-00279_TP	772678	37009485	119031410	648	6723											
BCOR	0	.	GRCh38	chrX	40053930	40053930	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttataacacggtaagaggggGgtctctgaaaattcaaattc	14	11	10	6	1	2	2	1	1	1	1	4	2	2	2	0	4	1	1	0	4	6	5	rs758816828		C3L-00279_TP	C3L-00279_NB	G	G																c.4932C>A	p.=	p.T1644T	ENST00000378444	14/15	377	342	35	348	347	1	strelka-varscan-mutect	BCOR,synonymous_variant,p.=,ENST00000342274,NM_001123383.1;BCOR,synonymous_variant,p.=,ENST00000378444,NM_001123385.1;BCOR,synonymous_variant,p.=,ENST00000378455,NM_001123384.1;BCOR,synonymous_variant,p.=,ENST00000397354,NM_017745.5;BCOR,synonymous_variant,p.=,ENST00000378463,;BCOR,synonymous_variant,p.=,ENST00000442018,;BCOR,synonymous_variant,p.=,ENST00000413905,;BCOR,intron_variant,,ENST00000427012,;	T	ENST00000378444	Transcript	synonymous_variant	5161/6358	4932/5268	1644/1755	T	acC/acA	rs758816828	1		-1	BCOR	HGNC	HGNC:20893	protein_coding	YES	CCDS48093.1	ENSP00000367705	Q6W2J9		UPI00002318CF	NM_001123385.1			14/15		hmmpanther:PTHR24117:SF8,hmmpanther:PTHR24117,Pfam_domain:PF16553																	LOW	1	SNV	1			1										PASS		rs758816828	.												T	2	4	14	40053930	40053930	G	T	1	0	0	0	0	0	0	0	1	1533	1219	43	2		2	BCOR	23	40053930	Silent	SNP	G	C3L-00279_TP	3044445	40053930	115986965	649	6724											
BCOR	0	.	GRCh38	chrX	40063803	40063803	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgacacctgctgctcccAtcgttctctaaggtgcagca	7	10	9	15	2	1	0	0	0	1	0	4	1	2	0	3	1	5	5	3	1	1	2	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.3652T>C	p.Trp1218Arg	p.W1218R	ENST00000378444	8/15	370	342	28	340	340	0	strelka-varscan-mutect	BCOR,missense_variant,p.Trp1184Arg,ENST00000342274,NM_001123383.1;BCOR,missense_variant,p.Trp1218Arg,ENST00000378444,NM_001123385.1;BCOR,missense_variant,p.Trp1166Arg,ENST00000378455,NM_001123384.1;BCOR,missense_variant,p.Trp1184Arg,ENST00000397354,NM_017745.5;BCOR,missense_variant,p.Trp1184Arg,ENST00000406200,;BCOR,missense_variant,p.Trp61Arg,ENST00000378463,;BCOR,missense_variant,p.Trp88Arg,ENST00000413905,;BCOR,upstream_gene_variant,,ENST00000442018,;BCOR,upstream_gene_variant,,ENST00000427012,;	G	ENST00000378444	Transcript	missense_variant	3881/6358	3652/5268	1218/1755	W/R	Tgg/Cgg		1		-1	BCOR	HGNC	HGNC:20893	protein_coding	YES	CCDS48093.1	ENSP00000367705	Q6W2J9		UPI00002318CF	NM_001123385.1	deleterious(0)		8/15		hmmpanther:PTHR24117:SF8,hmmpanther:PTHR24117,Pfam_domain:PF15808																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	40063803	40063803	A	G	1	0	0	0	0	1	0	0	0	1533	217	8	5		5	BCOR	23	40063803	Missense_Mutation	SNP	A	C3L-00279_TP	9873	40063803	115977092	650	6725											
RBM10	0	.	GRCh38	chrX	47179938	47179938	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattccatcctgggggccctGgcaccctacgcggtgctgtc	4	9	13	15	2	0	0	0	0	0	0	3	1	2	0	4	4	2	2	4	4	1	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1155G>T	p.=	p.L385L	ENST00000329236	10/24	421	386	35	386	386	0	strelka-varscan-mutect	RBM10,synonymous_variant,p.=,ENST00000377604,NM_005676.4,NM_001204467.1;RBM10,synonymous_variant,p.=,ENST00000329236,NM_001204468.1;RBM10,synonymous_variant,p.=,ENST00000345781,NM_001204466.1;RBM10,synonymous_variant,p.=,ENST00000628161,NM_152856.2;RBM10,non_coding_transcript_exon_variant,,ENST00000478410,;RBM10,intron_variant,,ENST00000496012,;	T	ENST00000329236	Transcript	synonymous_variant	1155/3201	1155/2988	385/995	L	ctG/ctT		1		1	RBM10	HGNC	HGNC:9896	protein_coding	YES	CCDS75969.1	ENSP00000328848		A0A0A0MR66	UPI0000211F0E	NM_001204468.1			10/24		Gene3D:3.30.70.330,PROSITE_profiles:PS50102,hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF4,SMART_domains:SM00360,Superfamily_domains:SSF54928																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	47179938	47179938	G	T	1	0	0	0	0	0	0	0	1	13277	1335	47	2		2	RBM10	23	47179938	Silent	SNP	G	C3L-00279_TP	7116135	47179938	108860957	651	6726											
TIMP1	0	.	GRCh38	chrX	47585604	47585604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgtggctccctggaacagCctgagcttagctcagcgccg	6	10	12	13	2	1	1	1	1	0	0	2	2	2	2	3	2	5	3	3	2	2	2	rs754889950		C3L-00279_TP	C3L-00279_NB	C	C																c.390C>G	p.Ser130Arg	p.S130R	ENST00000218388	5/6	88	76	12	80	80	0	strelka-varscan-mutect	TIMP1,missense_variant,p.Ser130Arg,ENST00000218388,NM_003254.2;TIMP1,missense_variant,p.Ser66Arg,ENST00000377017,;TIMP1,missense_variant,p.Ser88Arg,ENST00000445623,;TIMP1,3_prime_UTR_variant,,ENST00000456754,;SYN1,intron_variant,,ENST00000295987,NM_006950.3;SYN1,intron_variant,,ENST00000340666,NM_133499.2;TIMP1,downstream_gene_variant,,ENST00000441738,;MIR4769,upstream_gene_variant,,ENST00000584126,;	G	ENST00000218388	Transcript	missense_variant	560/892	390/624	130/207	S/R	agC/agG	rs754889950	1		1	TIMP1	HGNC	HGNC:11820	protein_coding	YES	CCDS14281.1	ENSP00000218388	P01033	Q6FGX5	UPI00001135B1	NM_003254.2	tolerated(0.12)		5/6		PROSITE_profiles:PS50189,hmmpanther:PTHR11844,hmmpanther:PTHR11844:SF20,Gene3D:2e2dC01,Pfam_domain:PF00965,SMART_domains:SM00206,Superfamily_domains:SSF50242																	MODERATE	1	SNV	1			1										PASS		rs754889950	.												G	3	3	14	47585604	47585604	C	G	1	0	0	0	0	1	0	0	0	16358	738	26	4		4	TIMP1	23	47585604	Missense_Mutation	SNP	C	C3L-00279_TP	405666	47585604	108455291	652	6727											
CFP	0	.	GRCh38	chrX	47627618	47627618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagcaaggctcccagggccCccagccagaccagccgccca	10	1	11	19	1	0	2	0	0	0	2	1	2	1	2	7	2	3	2	7	2	1	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.427G>T	p.Gly143Trp	p.G143W	ENST00000247153	5/10	88	81	7	75	75	0	strelka-varscan-mutect	CFP,missense_variant,p.Gly143Trp,ENST00000247153,NM_002621.2;CFP,missense_variant,p.Gly143Trp,ENST00000396992,NM_001145252.1;CFP,missense_variant,p.Gly143Trp,ENST00000377005,;CFP,missense_variant,p.Gly8Trp,ENST00000469388,;CFP,downstream_gene_variant,,ENST00000480317,;CFP,non_coding_transcript_exon_variant,,ENST00000485991,;CFP,upstream_gene_variant,,ENST00000478222,;	A	ENST00000247153	Transcript	missense_variant	669/1713	427/1410	143/469	G/W	Ggg/Tgg		1		-1	CFP	HGNC	HGNC:8864	protein_coding	YES	CCDS14282.1	ENSP00000247153	P27918	A0A0S2Z4I5	UPI0000132325	NM_002621.2	deleterious(0)		5/10		PROSITE_profiles:PS50092,hmmpanther:PTHR22906,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895,Prints_domain:PR01705																	MODERATE	1	SNV	5			1										PASS		rs1190480861	.												A	3	1	14	47627618	47627618	C	A	1	0	0	0	0	1	0	0	0	3051	623	22	2		2	CFP	23	47627618	Missense_Mutation	SNP	C	C3L-00279_TP	42014	47627618	108413277	653	6728											
CCDC22	0	.	GRCh38	chrX	49250163	49250163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcagatcgagacagagctgGgcaagaagaccctcagcaac	14	4	11	12	1	2	5	2	0	0	5	3	6	2	5	1	1	3	3	1	1	3	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1786G>A	p.Gly596Ser	p.G596S	ENST00000376227	17/17	177	160	17	170	170	0	strelka-mutect	CCDC22,missense_variant,p.Gly596Ser,ENST00000376227,NM_014008.4;FOXP3,downstream_gene_variant,,ENST00000455775,;FOXP3,downstream_gene_variant,,ENST00000376207,NM_014009.3;FOXP3,downstream_gene_variant,,ENST00000376199,NM_001114377.1;FOXP3,downstream_gene_variant,,ENST00000557224,;FOXP3,downstream_gene_variant,,ENST00000376197,;FOXP3,downstream_gene_variant,,ENST00000518685,;	A	ENST00000376227	Transcript	missense_variant	1956/2319	1786/1884	596/627	G/S	Ggc/Agc		1		1	CCDC22	HGNC	HGNC:28909	protein_coding	YES	CCDS14322.1	ENSP00000365401	O60826	A0A024QZ03	UPI000006FFC7	NM_014008.4	tolerated(0.38)		17/17		hmmpanther:PTHR15668,Pfam_domain:PF05667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	49250163	49250163	G	A	1	0	0	0	0	1	0	0	0	2508	1232	43	3		3	CCDC22	23	49250163	Missense_Mutation	SNP	G	C3L-00279_TP	1622545	49250163	106790732	654	6729											
MAGED1	0	.	GRCh38	chrX	51901866	51901866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggtcccattattggtcctgGtggtacagccagtgccaact	7	11	11	12	1	0	0	0	0	0	0	2	0	2	0	4	4	4	1	4	4	3	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2441G>T	p.Gly814Val	p.G814V	ENST00000375695	13/14	181	170	11	175	175	0	strelka-varscan-mutect	MAGED1,missense_variant,p.Gly814Val,ENST00000375695,NM_001005333.1;MAGED1,missense_variant,p.Gly758Val,ENST00000375722,;MAGED1,missense_variant,p.Gly758Val,ENST00000326587,NM_006986.3;MAGED1,missense_variant,p.Gly758Val,ENST00000375772,NM_001005332.1;MAGED1,non_coding_transcript_exon_variant,,ENST00000494718,;MAGED1,non_coding_transcript_exon_variant,,ENST00000485420,;MAGED1,non_coding_transcript_exon_variant,,ENST00000473931,;RP11-234P3.2,downstream_gene_variant,,ENST00000428250,;	T	ENST00000375695	Transcript	missense_variant	2594/2875	2441/2505	814/834	G/V	gGt/gTt		1		1	MAGED1	HGNC	HGNC:6813	protein_coding	YES	CCDS35279.1	ENSP00000364847	Q9Y5V3		UPI0000074161	NM_001005333.1	deleterious_low_confidence(0)		13/14		Low_complexity_(Seg):seg,hmmpanther:PTHR11736:SF28,hmmpanther:PTHR11736																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	51901866	51901866	G	T	1	0	0	0	0	1	0	0	0	9101	1261	44	2		2	MAGED1	23	51901866	Missense_Mutation	SNP	G	C3L-00279_TP	2651703	51901866	104139029	655	6730											
SPANXN5	0	.	GRCh38	chrX	52796612	52796612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttcgaggactaagtccCtgtttggtgtctcctgcatc	5	14	11	11	2	1	0	0	0	1	0	6	2	2	1	2	3	1	3	2	3	1	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.95G>A	p.Arg32Lys	p.R32K	ENST00000375511	2/2	143	127	16	85	85	0	strelka-varscan-mutect	SPANXN5,missense_variant,p.Arg32Lys,ENST00000375511,NM_001009616.3;RP13-77O11.12,downstream_gene_variant,,ENST00000452829,;	T	ENST00000375511	Transcript	missense_variant	848/1316	95/219	32/72	R/K	aGg/aAg		1		-1	SPANXN5	HGNC	HGNC:33178	protein_coding	YES	CCDS35295.1	ENSP00000364661	Q5MJ07		UPI000023FDD3	NM_001009616.3	tolerated(0.9)		2/2		Pfam_domain:PF07458,hmmpanther:PTHR23425,hmmpanther:PTHR23425:SF7																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	14	52796612	52796612	C	T	1	0	0	0	0	1	0	0	0	15325	681	24	3		3	SPANXN5	23	52796612	Missense_Mutation	SNP	C	C3L-00279_TP	894746	52796612	103244283	656	6731											
HUWE1	0	.	GRCh38	chrX	53554812	53554812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggggttgggagtgttGgttgctgttgtgaggattgc	3	15	20	3	0	0	1	0	1	0	0	0	3	0	3	0	6	2	5	0	6	0	5	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.8315C>A	p.Pro2772Gln	p.P2772Q	ENST00000342160	60/83	206	187	19	144	144	0	strelka-varscan-mutect	HUWE1,missense_variant,p.Pro2772Gln,ENST00000342160,;HUWE1,missense_variant,p.Pro2772Gln,ENST00000262854,NM_031407.6;HUWE1,missense_variant,p.Pro2763Gln,ENST00000612484,;MIR98,downstream_gene_variant,,ENST00000606724,;MIRLET7F2,downstream_gene_variant,,ENST00000385277,;	T	ENST00000342160	Transcript	missense_variant	8773/14796	8315/13125	2772/4374	P/Q	cCa/cAa		1		-1	HUWE1	HGNC	HGNC:30892	protein_coding	YES	CCDS35301.1	ENSP00000340648	Q7Z6Z7	A0A024R9W5	UPI00004A0DAC		tolerated_low_confidence(0.14)		60/83		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	53554812	53554812	G	T	1	0	0	0	0	1	0	0	0	7357	1348	47	2		2	HUWE1	23	53554812	Missense_Mutation	SNP	G	C3L-00279_TP	758200	53554812	102486083	657	6732											
TRO	0	.	GRCh38	chrX	54930724	54930724	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacagaggactgagtaccAtcattggctttggcagtggt	9	11	13	8	1	1	2	1	1	0	1	2	4	1	3	1	4	1	3	1	4	1	3	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.4000A>G	p.Ile1334Val	p.I1334V	ENST00000173898	12/13	277	256	21	269	269	0	strelka-varscan-mutect	TRO,missense_variant,p.Ile1334Val,ENST00000173898,NM_001039705.2;TRO,missense_variant,p.Ile865Val,ENST00000420798,NM_001271183.1;TRO,missense_variant,p.Ile937Val,ENST00000375041,NM_001271184.1;TRO,intron_variant,,ENST00000319167,NM_016157.3;TRO,intron_variant,,ENST00000375022,NM_177556.2;TRO,intron_variant,,ENST00000622017,;TRO,intron_variant,,ENST00000399736,NM_177557.2;PFKFB1,downstream_gene_variant,,ENST00000375006,NM_001271804.1,NM_002625.3;PFKFB1,downstream_gene_variant,,ENST00000545676,NM_001271805.1;PFKFB1,downstream_gene_variant,,ENST00000614686,;PFKFB1,downstream_gene_variant,,ENST00000374992,;SNORA11,downstream_gene_variant,,ENST00000408823,;TRO,intron_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,intron_variant,,ENST00000445561,;TRO,downstream_gene_variant,,ENST00000469211,;	G	ENST00000173898	Transcript	missense_variant	4112/4647	4000/4296	1334/1431	I/V	Atc/Gtc		1		1	TRO	HGNC	HGNC:12326	protein_coding	YES	CCDS43959.1	ENSP00000173898	Q12816		UPI000021208F	NM_001039705.2	tolerated_low_confidence(0.12)		12/13		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	14	54930724	54930724	A	G	1	0	0	0	0	1	0	0	0	17079	217	8	5		5	TRO	23	54930724	Missense_Mutation	SNP	A	C3L-00279_TP	1375912	54930724	101110171	658	6733											
AMER1	0	.	GRCh38	chrX	64190080	64190081	+	Frame_Shift_Ins	INS	-	-	A																															tggcctgtggtagagggctgINSgggctgaagcctccagaact																								novel		C3L-00279_TP	C3L-00279_NB	-	-																c.3206_3207insT	p.Ser1070GlnfsTer24	p.S1070Qfs*24	ENST00000330258	2/2	78	70	8	91	91	0	sindel-varindel-pindel	AMER1,frameshift_variant,p.Ser1070GlnfsTer24,ENST00000330258,NM_152424.3;AMER1,intron_variant,,ENST00000374869,;	A	ENST00000330258	Transcript	frameshift_variant	3479-3480/8443	3206-3207/3408	1069/1135	P/PX	ccc/ccTc		1		-1	AMER1	HGNC	HGNC:26837	protein_coding	YES	CCDS14377.2	ENSP00000329117	Q5JTC6		UPI0000EDA0FC	NM_152424.3			2/2		Low_complexity_(Seg):seg																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	14	64190080	64190080	-	A	1	0	1	1	0	0	0	0	0	667	1335	47	0		0	AMER1	23	64190080	Frame_Shift_Ins	INS	-	C3L-00279_TP	9259356	64190080	91850815	659	6734											
ZC4H2	0	.	GRCh38	chrX	64919177	64919177	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctcctgaggttctgtctgCcattctgctttctgcttctc	2	17	9	13	0	5	1	0	1	5	0	7	1	6	1	2	2	3	4	2	2	0	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.426G>T	p.Trp142Cys	p.W142C	ENST00000374839	4/5	180	162	18	179	179	0	strelka-varscan-mutect	ZC4H2,missense_variant,p.Trp119Cys,ENST00000337990,NM_001178032.2,NM_001243804.1;ZC4H2,missense_variant,p.Trp142Cys,ENST00000374839,NM_018684.3;ZC4H2,intron_variant,,ENST00000447788,NM_001178033.2;ZC4H2,non_coding_transcript_exon_variant,,ENST00000488608,;ZC4H2,non_coding_transcript_exon_variant,,ENST00000476032,;ZC4H2,non_coding_transcript_exon_variant,,ENST00000492653,;ZC4H2,non_coding_transcript_exon_variant,,ENST00000488831,;ZC4H2,intron_variant,,ENST00000488406,;	A	ENST00000374839	Transcript	missense_variant	533/2184	426/675	142/224	W/C	tgG/tgT		1		-1	ZC4H2	HGNC	HGNC:24931	protein_coding	YES	CCDS14380.1	ENSP00000363972	Q9NQZ6		UPI0000025CAA	NM_018684.3	tolerated(0.16)		4/5		Pfam_domain:PF10146,hmmpanther:PTHR31058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	64919177	64919177	C	A	1	0	0	0	0	1	0	0	0	18153	740	26	2		2	ZC4H2	23	64919177	Missense_Mutation	SNP	C	C3L-00279_TP	729097	64919177	91121718	660	6735											
MED12	0	.	GRCh38	chrX	71137793	71137793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgcaggtaccatggtgcCccccagctactccagccagc	7	6	9	19	0	0	0	0	0	0	0	1	0	1	0	7	2	7	3	7	2	2	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.5894C>A	p.Pro1965His	p.P1965H	ENST00000374080	41/45	285	247	38	297	295	2	strelka-varscan-mutect	MED12,missense_variant,p.Pro1815His,ENST00000333646,;MED12,missense_variant,p.Pro1964His,ENST00000374102,;MED12,missense_variant,p.Pro1965His,ENST00000374080,NM_005120.2;MED12,intron_variant,,ENST00000444034,;	A	ENST00000374080	Transcript	missense_variant	5926/6795	5894/6534	1965/2177	P/H	cCc/cAc		1		1	MED12	HGNC	HGNC:11957	protein_coding	YES	CCDS43970.1	ENSP00000363193	Q93074		UPI00004257E2	NM_005120.2	deleterious_low_confidence(0)		41/45		Pfam_domain:PF12144,hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF24,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	71137793	71137793	C	A	1	0	0	0	0	1	0	0	0	9367	623	22	2		2	MED12	23	71137793	Missense_Mutation	SNP	C	C3L-00279_TP	6218616	71137793	84903102	661	6736											
TAF1	0	.	GRCh38	chrX	71384964	71384964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaacctggaaaagatcctgGagcaccagattgtaaatatg	16	8	10	7	0	0	2	0	0	0	2	1	5	1	4	3	2	2	2	3	2	6	3	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2201G>T	p.Gly734Val	p.G734V	ENST00000423759	14/39	183	165	18	91	91	0	strelka-mutect	TAF1,missense_variant,p.Gly734Val,ENST00000423759,NM_001286074.1;TAF1,missense_variant,p.Gly713Val,ENST00000373790,NM_138923.3;TAF1,missense_variant,p.Gly734Val,ENST00000276072,NM_004606.4;TAF1,upstream_gene_variant,,ENST00000478305,;TAF1,upstream_gene_variant,,ENST00000472567,;TAF1,upstream_gene_variant,,ENST00000474917,;	T	ENST00000423759	Transcript	missense_variant	2277/7722	2201/5688	734/1895	G/V	gGa/gTa		1		1	TAF1	HGNC	HGNC:11535	protein_coding	YES	CCDS69783.1	ENSP00000406549	P21675		UPI000171708A	NM_001286074.1	deleterious(0.04)		14/39		Pfam_domain:PF12157,PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	71384964	71384964	G	T	1	0	0	0	0	1	0	0	0	15909	1174	41	2		2	TAF1	23	71384964	Missense_Mutation	SNP	G	C3L-00279_TP	247171	71384964	84655931	662	6737											
NHSL2	0	.	GRCh38	chrX	72138905	72138905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataacccagcaggatgcagtGggtcagctggctaccctgag	10	7	13	11	0	1	1	1	1	0	0	1	2	1	2	2	3	5	4	2	3	2	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1357G>T	p.Gly453Trp	p.G453W	ENST00000633930	6/8	258	226	32	235	235	0	strelka-varscan-mutect	NHSL2,missense_variant,p.Gly453Trp,ENST00000633930,NM_001013627.2;NHSL2,missense_variant,p.Gly178Trp,ENST00000631375,;NHSL2,missense_variant,p.Gly87Trp,ENST00000510661,;NHSL2,missense_variant,p.Gly170Trp,ENST00000632230,;NHSL2,downstream_gene_variant,,ENST00000631833,;NHSL2,non_coding_transcript_exon_variant,,ENST00000373677,;	T	ENST00000633930	Transcript	missense_variant	1627/13660	1357/3678	453/1225	G/W	Ggg/Tgg		1		1	NHSL2	HGNC	HGNC:33737	protein_coding	YES		ENSP00000488668		A0A0J9YY34	UPI0001B09231	NM_001013627.2	deleterious(0)		6/8		hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	72138905	72138905	G	T	1	0	0	0	0	1	0	0	0	10445	1348	47	2		2	NHSL2	23	72138905	Missense_Mutation	SNP	G	C3L-00279_TP	753941	72138905	83901990	663	6738											
ERCC6L	0	.	GRCh38	chrX	72205400	72205400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcttctggataatcttcagGaccctttgcttcactgctgt	6	17	7	11	0	5	0	2	0	3	0	5	2	5	2	1	2	2	2	1	2	1	6	rs746653103		C3L-00279_TP	C3L-00279_NB	G	G																c.3367C>A	p.Pro1123Thr	p.P1123T	ENST00000334463	2/2	181	161	20	113	113	0	strelka-varscan-mutect	ERCC6L,missense_variant,p.Pro1000Thr,ENST00000373657,;ERCC6L,missense_variant,p.Pro1123Thr,ENST00000334463,NM_017669.2;PIN4,intron_variant,,ENST00000423432,NM_001170747.1;PIN4,intron_variant,,ENST00000496835,;PIN4,intron_variant,,ENST00000439980,;	T	ENST00000334463	Transcript	missense_variant	3503/4243	3367/3753	1123/1250	P/T	Cct/Act	rs746653103	1		-1	ERCC6L	HGNC	HGNC:20794	protein_coding	YES	CCDS35329.1	ENSP00000334675	Q2NKX8		UPI000021233E	NM_017669.2	tolerated(0.64)		2/2		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF756																	MODERATE	1	SNV	1			1										PASS		rs746653103	.												T	3	4	14	72205400	72205400	G	T	1	0	0	0	0	1	0	0	0	5067	1174	41	2		2	ERCC6L	23	72205400	Missense_Mutation	SNP	G	C3L-00279_TP	66495	72205400	83835495	664	6739											
KIAA2022	0	.	GRCh38	chrX	74741355	74741355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtggggacatctctgaaaGggaagagtggcggaatttgt	10	9	17	5	2	1	2	0	1	1	1	2	5	1	5	0	6	0	0	0	6	3	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.3202C>T	p.Leu1068Phe	p.L1068F	ENST00000055682	3/4	317	295	22	274	274	0	strelka-varscan-mutect	KIAA2022,missense_variant,p.Leu1068Phe,ENST00000055682,NM_001008537.2;KIAA2022,missense_variant,p.Leu1068Phe,ENST00000616200,;KIAA2022,upstream_gene_variant,,ENST00000424929,;	A	ENST00000055682	Transcript	missense_variant	3814/11719	3202/4551	1068/1516	L/F	Ctt/Ttt		1		-1	KIAA2022	HGNC	HGNC:29433	protein_coding	YES	CCDS35337.1	ENSP00000055682	Q5QGS0		UPI00001C207B	NM_001008537.2	deleterious(0.03)		3/4																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	74741355	74741355	G	A	1	0	0	0	0	1	0	0	0	8133	1000	35	3		3	KIAA2022	23	74741355	Missense_Mutation	SNP	G	C3L-00279_TP	2535955	74741355	81299540	665	6740											
UPRT	0	.	GRCh38	chrX	75300868	75300868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttatcttttgatttcaggCactggaaatactgtaattga	11	16	9	5	0	2	2	1	2	1	0	2	3	2	3	0	3	1	3	0	3	4	7	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.726C>A	p.Ser242Arg	p.S242R	ENST00000373383	6/7	89	77	12	57	57	0	strelka-varscan-mutect	UPRT,missense_variant,p.Ser242Arg,ENST00000373379,NM_001307944.1;UPRT,missense_variant,p.Ser242Arg,ENST00000373383,NM_145052.3;UPRT,missense_variant,p.Ser106Arg,ENST00000530743,;UPRT,splice_region_variant,,ENST00000474175,;UPRT,splice_region_variant,,ENST00000526850,;UPRT,downstream_gene_variant,,ENST00000531704,;UPRT,splice_region_variant,,ENST00000462237,;	A	ENST00000373383	Transcript	missense_variant,splice_region_variant	893/2186	726/930	242/309	S/R	agC/agA		1		1	UPRT	HGNC	HGNC:28334	protein_coding	YES	CCDS14429.1	ENSP00000362481	Q96BW1	A8KAF9	UPI000004B62E	NM_145052.3	deleterious(0)		6/7		Gene3D:3.40.50.2020,Pfam_domain:PF14681,hmmpanther:PTHR10285,Superfamily_domains:SSF53271																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	75300868	75300868	C	A	1	0	0	0	0	1	0	0	0	17540	724	25	2		2	UPRT	23	75300868	Missense_Mutation	SNP	C	C3L-00279_TP	559513	75300868	80740027	666	6741											
ZCCHC5	0	.	GRCh38	chrX	78657759	78657759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcctgtggaaactctgaaGctgctgatgtctccacaact	9	10	11	11	0	2	2	0	2	2	0	3	3	2	3	2	2	4	2	2	2	3	0	rs200454840		C3L-00279_TP	C3L-00279_NB	G	G																c.662C>A	p.Ala221Asp	p.A221D	ENST00000321110	2/2	415	375	40	367	367	0	strelka-varscan-mutect	ZCCHC5,missense_variant,p.Ala221Asp,ENST00000321110,NM_152694.2;	T	ENST00000321110	Transcript	missense_variant	958/2648	662/1428	221/475	A/D	gCt/gAt	rs200454840	1		-1	ZCCHC5	HGNC	HGNC:22997	protein_coding	YES	CCDS14440.1	ENSP00000316794	Q8N8U3		UPI00000710DD	NM_152694.2	tolerated(0.06)		2/2		hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF7																	MODERATE	1	SNV	2			1										PASS		rs200454840	.												T	3	4	14	78657759	78657759	G	T	1	0	0	0	0	1	0	0	0	18166	971	34	2		2	ZCCHC5	23	78657759	Missense_Mutation	SNP	G	C3L-00279_TP	3356891	78657759	77383136	667	6742											
BRWD3	0	.	GRCh38	chrX	80704722	80704722	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcctttcttctagggActtcaaattttcctcatcag	7	17	5	12	0	6	0	3	0	3	0	7	1	7	1	2	1	1	0	2	1	2	7	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.2677T>A	p.Ser893Thr	p.S893T	ENST00000373275	23/41	396	361	35	132	132	0	strelka-varscan-mutect	BRWD3,missense_variant,p.Ser893Thr,ENST00000373275,NM_153252.4;BRWD3,non_coding_transcript_exon_variant,,ENST00000473691,;	T	ENST00000373275	Transcript	missense_variant	2894/11381	2677/5409	893/1802	S/T	Tcc/Acc		1		-1	BRWD3	HGNC	HGNC:17342	protein_coding	YES	CCDS14447.1	ENSP00000362372	Q6RI45		UPI000045785B	NM_153252.4	tolerated(0.44)		23/41		hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	80704722	80704722	A	T	1	0	0	0	0	1	0	0	0	1700	275	10	4		4	BRWD3	23	80704722	Missense_Mutation	SNP	A	C3L-00279_TP	2046963	80704722	75336173	668	6743											
BRWD3	0	.	GRCh38	chrX	80704761	80704761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgctgcatattttacGtgttgtctgtctggtttgtc	5	18	11	7	1	2	1	0	0	2	1	3	1	2	1	0	1	4	5	0	1	2	5			C3L-00279_TP	C3L-00279_NB	G	G																c.2638C>A	p.Arg880Ser	p.R880S	ENST00000373275	23/41	361	326	35	136	136	0	strelka-varscan-mutect	BRWD3,missense_variant,p.Arg880Ser,ENST00000373275,NM_153252.4;BRWD3,non_coding_transcript_exon_variant,,ENST00000473691,;	T	ENST00000373275	Transcript	missense_variant	2855/11381	2638/5409	880/1802	R/S	Cgt/Agt	COSM3406620	1		-1	BRWD3	HGNC	HGNC:17342	protein_coding	YES	CCDS14447.1	ENSP00000362372	Q6RI45		UPI000045785B	NM_153252.4	tolerated(0.11)		23/41		hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	14	80704761	80704761	G	T	1	0	0	0	0	1	0	0	0	1700	1145	40	1		1	BRWD3	23	80704761	Missense_Mutation	SNP	G	C3L-00279_TP	39	80704761	75336134	669	6744											
POU3F4	0	.	GRCh38	chrX	83508696	83508696	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcaccgaacccgtctatCacgtcaagcggccaacccct	9	5	8	19	5	3	0	2	0	1	0	3	1	3	0	6	2	3	1	6	2	4	1	rs765320605		C3L-00279_TP	C3L-00279_NB	C	C																c.372C>A	p.=	p.I124I	ENST00000373200	1/1	286	261	25	245	245	0	strelka-varscan-mutect	POU3F4,synonymous_variant,p.=,ENST00000373200,NM_000307.4;RP3-326L13.2,non_coding_transcript_exon_variant,,ENST00000625081,;	A	ENST00000373200	Transcript	synonymous_variant	447/3878	372/1086	124/361	I	atC/atA	rs765320605,COSM3563695,COSM3563696	1		1	POU3F4	HGNC	HGNC:9217	protein_coding	YES	CCDS14450.1	ENSP00000362296	P49335		UPI0000131D8A	NM_000307.4			1/1		hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF83,PIRSF_domain:PIRSF002629											0,1,1						LOW	1	SNV			0,1,1	1										PASS		rs765320605	.												A	2	1	14	83508696	83508696	C	A	1	0	0	0	0	0	0	0	1	12393	816	29	2		2	POU3F4	23	83508696	Silent	SNP	C	C3L-00279_TP	2803935	83508696	72532199	670	6745											
APOOL	0	.	GRCh38	chrX	85074020	85074020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagcaaaaaaggtatatgCtacaagccagcaaatttttg	18	9	7	7	0	0	0	0	0	0	0	0	0	0	0	1	1	6	4	1	1	9	5			C3L-00279_TP	C3L-00279_NB	C	C																c.509C>A	p.Ala170Asp	p.A170D	ENST00000373173	7/9	139	125	14	61	61	0	strelka-varscan-mutect	APOOL,missense_variant,p.Leu165Ile,ENST00000622540,;APOOL,missense_variant,p.Ala170Asp,ENST00000613473,;APOOL,missense_variant,p.Ala170Asp,ENST00000373173,NM_198450.5;	A	ENST00000373173	Transcript	missense_variant	596/1279	509/807	170/268	A/D	gCt/gAt	COSM1126056	1		1	APOOL	HGNC	HGNC:24009	protein_coding	YES	CCDS48138.1	ENSP00000362268	Q6UXV4		UPI00001D6936	NM_198450.5	tolerated(0.09)		7/9		Pfam_domain:PF09769,hmmpanther:PTHR14564,hmmpanther:PTHR14564:SF3											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	14	85074020	85074020	C	A	1	0	0	0	0	1	0	0	0	936	797	28	2		2	APOOL	23	85074020	Missense_Mutation	SNP	C	C3L-00279_TP	1565324	85074020	70966875	671	6746											
ZNF711	0	.	GRCh38	chrX	85255336	85255336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaagctgttttagtttctGatgttgtcacagatgatggg	8	16	12	5	0	2	4	1	3	1	1	2	4	2	4	0	1	1	4	0	1	2	4			C3L-00279_TP	C3L-00279_NB	G	G																c.157G>A	p.Asp53Asn	p.D53N	ENST00000373165	4/9	439	399	40	232	232	0	strelka-varscan-mutect	ZNF711,missense_variant,p.Asp53Asn,ENST00000360700,;ZNF711,missense_variant,p.Asp53Asn,ENST00000373165,NM_021998.4;ZNF711,missense_variant,p.Asp53Asn,ENST00000276123,;	A	ENST00000373165	Transcript	missense_variant	463/4124	157/2286	53/761	D/N	Gat/Aat	COSM1138216,COSM296391	1		1	ZNF711	HGNC	HGNC:13128	protein_coding	YES	CCDS35344.1	ENSP00000362260	Q9Y462		UPI0000212114	NM_021998.4	tolerated_low_confidence(0.1)		4/9		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF1											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1427911141	.												A	3	1	14	85255336	85255336	G	A	1	0	0	0	0	1	0	0	0	18691	1290	45	3		3	ZNF711	23	85255336	Missense_Mutation	SNP	G	C3L-00279_TP	181316	85255336	70785559	672	6747											
PCDH11X	0	.	GRCh38	chrX	91835761	91835761	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatactggtgagatcttcaCtactggcgctcgcattgatc	8	12	11	10	2	2	2	1	2	1	1	4	4	2	3	0	3	2	2	0	3	2	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.257C>A	p.Thr86Asn	p.T86N	ENST00000373094	1/7	665	599	66	623	623	0	strelka-varscan-mutect	PCDH11X,missense_variant,p.Thr86Asn,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Thr86Asn,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Thr86Asn,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Thr86Asn,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Thr86Asn,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Thr86Asn,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Thr86Asn,ENST00000395337,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000298274,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000361724,;	A	ENST00000373094	Transcript	missense_variant	1102/9179	257/4044	86/1347	T/N	aCt/aAt		1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4	deleterious(0)		1/7		Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF25																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	91835761	91835761	C	A	1	0	0	0	0	1	0	0	0	11595	565	20	2		2	PCDH11X	23	91835761	Missense_Mutation	SNP	C	C3L-00279_TP	6580425	91835761	64205134	673	6748											
NOX1	0	.	GRCh38	chrX	100843997	100843997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgaacctttctaggatcCagactggaatatcggtgaca	13	11	9	8	1	1	3	0	2	1	1	3	5	2	5	2	3	1	0	2	3	5	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1650G>A	p.=	p.L550L	ENST00000372966	13/13	198	185	13	168	168	0	strelka-mutect	NOX1,synonymous_variant,p.=,ENST00000372966,NM_007052.4;NOX1,synonymous_variant,p.=,ENST00000372960,NM_001271815.1;NOX1,synonymous_variant,p.=,ENST00000217885,NM_013955.2;NOX1,synonymous_variant,p.=,ENST00000427768,;NOX1,intron_variant,,ENST00000372964,;CSTF2,downstream_gene_variant,,ENST00000415585,NM_001306206.1;CSTF2,downstream_gene_variant,,ENST00000372972,NM_001325.2;CSTF2,downstream_gene_variant,,ENST00000475126,;	T	ENST00000372966	Transcript	synonymous_variant	1856/2529	1650/1695	550/564	L	ctG/ctA		1		-1	NOX1	HGNC	HGNC:7889	protein_coding	YES	CCDS14474.1	ENSP00000362057	Q9Y5S8		UPI00001303C1	NM_007052.4			13/13		hmmpanther:PTHR11972:SF71,hmmpanther:PTHR11972,Gene3D:3.40.50.80,Superfamily_domains:SSF52343																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	14	100843997	100843997	C	T	1	0	0	0	0	0	0	0	1	10602	581	21	3		3	NOX1	23	100843997	Silent	SNP	C	C3L-00279_TP	9008236	100843997	55196898	674	6749											
TBC1D8B	0	.	GRCh38	chrX	106820982	106820982	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatattactaattttgtacAaggaaaaataagagtaagtg	19	12	8	2	0	0	2	0	0	0	2	0	3	0	3	0	1	2	2	0	1	9	8	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.347A>T	p.Gln116Leu	p.Q116L	ENST00000357242	3/21	51	41	10	15	15	0	strelka-mutect	TBC1D8B,missense_variant,p.Gln116Leu,ENST00000357242,NM_017752.2;TBC1D8B,missense_variant,p.Gln116Leu,ENST00000481617,;TBC1D8B,missense_variant,p.Gln116Leu,ENST00000276175,;TBC1D8B,missense_variant,p.Gln116Leu,ENST00000310452,NM_198881.1;TBC1D8B,missense_variant,p.Gln18Leu,ENST00000460545,;MORC4,intron_variant,,ENST00000604604,;	T	ENST00000357242	Transcript	missense_variant	521/5717	347/3363	116/1120	Q/L	cAa/cTa		1		1	TBC1D8B	HGNC	HGNC:24715	protein_coding	YES	CCDS14522.1	ENSP00000349781	Q0IIM8		UPI0000225CD5	NM_017752.2	tolerated(0.06)		3/21		hmmpanther:PTHR22957:SF320,hmmpanther:PTHR22957																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	106820982	106820982	A	T	1	0	0	0	0	1	0	0	0	16031	130	5	4		4	TBC1D8B	23	106820982	Missense_Mutation	SNP	A	C3L-00279_TP	5976985	106820982	49219913	675	6750											
MORC4	0	.	GRCh38	chrX	106942852	106942852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacttcttctttgtttatgGttgtgctacctctgttagat	5	21	8	7	0	3	2	0	1	3	1	3	2	3	2	1	1	2	4	1	1	3	8	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2039C>A	p.Thr680Asn	p.T680N	ENST00000355610	15/17	332	296	36	261	261	0	strelka-varscan-mutect	MORC4,missense_variant,p.Thr680Asn,ENST00000355610,NM_024657.4;MORC4,missense_variant,p.Thr680Asn,ENST00000255495,NM_001085354.2;MORC4,intron_variant,,ENST00000604604,;MORC4,upstream_gene_variant,,ENST00000478924,;	T	ENST00000355610	Transcript	missense_variant	2314/3834	2039/2814	680/937	T/N	aCc/aAc		1		-1	MORC4	HGNC	HGNC:23485	protein_coding	YES	CCDS14525.2	ENSP00000347821	Q8TE76		UPI00003E75D3	NM_024657.4	tolerated(1)		15/17		hmmpanther:PTHR23336,hmmpanther:PTHR23336:SF22																	MODERATE	1	SNV	2			1										PASS		rs1328940608	.												T	3	4	14	106942852	106942852	G	T	1	0	0	0	0	1	0	0	0	9668	1261	44	2		2	MORC4	23	106942852	Missense_Mutation	SNP	G	C3L-00279_TP	121870	106942852	49098043	676	6751											
ACSL4	0	.	GRCh38	chrX	109681007	109681007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctttacttacagttttctgGgttagatcccaactcttcta	8	17	6	10	0	3	1	0	0	3	1	4	1	4	1	1	1	3	3	1	1	5	8	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.769C>A	p.Pro257Thr	p.P257T	ENST00000340800	7/17	204	185	19	72	72	0	strelka-varscan-mutect	ACSL4,missense_variant,p.Pro257Thr,ENST00000340800,NM_001318509.1,NM_022977.2;ACSL4,missense_variant,p.Pro257Thr,ENST00000469796,;ACSL4,missense_variant,p.Pro216Thr,ENST00000348502,NM_001318510.1,NM_004458.2;ACSL4,downstream_gene_variant,,ENST00000502391,;ACSL4,downstream_gene_variant,,ENST00000508092,;ACSL4,downstream_gene_variant,,ENST00000505855,;ACSL4,downstream_gene_variant,,ENST00000504980,;ACSL4,downstream_gene_variant,,ENST00000469857,;	T	ENST00000340800	Transcript	missense_variant	1274/5333	769/2136	257/711	P/T	Cca/Aca		1		-1	ACSL4	HGNC	HGNC:3571	protein_coding	YES	CCDS14548.1	ENSP00000339787	O60488		UPI000012E293	NM_001318509.1,NM_022977.2	tolerated(0.16)		7/17		Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF241,Superfamily_domains:SSF56801																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	109681007	109681007	G	T	1	0	0	0	0	1	0	0	0	221	1232	43	2		2	ACSL4	23	109681007	Missense_Mutation	SNP	G	C3L-00279_TP	2738155	109681007	46359888	677	6752											
RGAG1	0	.	GRCh38	chrX	110451803	110451803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagagcaacagcctctGgggtgatgtctgcaccacca	10	7	12	12	0	2	2	0	2	2	1	2	3	2	2	3	2	4	2	3	2	1	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1186G>T	p.Gly396Trp	p.G396W	ENST00000465301	3/4	277	256	21	266	266	0	strelka-varscan-mutect	RGAG1,missense_variant,p.Gly396Trp,ENST00000465301,NM_020769.2;RGAG1,missense_variant,p.Gly396Trp,ENST00000540313,;RGAG1,downstream_gene_variant,,ENST00000520821,;	T	ENST00000465301	Transcript	missense_variant	1432/5426	1186/4167	396/1388	G/W	Ggg/Tgg		1		1	RGAG1	HGNC	HGNC:29245	protein_coding	YES	CCDS14552.1	ENSP00000419786	Q8NET4		UPI000006F841	NM_020769.2	deleterious(0)		3/4		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF48																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	110451803	110451803	G	T	1	0	0	0	0	1	0	0	0	13446	1348	47	2		2	RGAG1	23	110451803	Missense_Mutation	SNP	G	C3L-00279_TP	770796	110451803	45589092	678	6753											
CAPN6	0	.	GRCh38	chrX	111247936	111247936	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatctgagtaactactttcGggtagccacgagccaggttc	9	11	11	10	2	1	2	0	2	1	0	3	3	1	2	2	2	4	3	2	2	3	5	rs770534374		C3L-00279_TP	C3L-00279_NB	G	G																c.1541C>G	p.Pro514Arg	p.P514R	ENST00000324068	11/13	332	295	37	250	250	0	strelka-varscan-mutect	CAPN6,missense_variant,p.Pro514Arg,ENST00000324068,NM_014289.3;	C	ENST00000324068	Transcript	missense_variant	1709/3568	1541/1926	514/641	P/R	cCg/cGg	rs770534374	1		-1	CAPN6	HGNC	HGNC:1483	protein_coding	YES	CCDS14555.1	ENSP00000317214	Q9Y6Q1		UPI0000126EA1	NM_014289.3	deleterious(0.02)		11/13		hmmpanther:PTHR10183:SF281,hmmpanther:PTHR10183																	MODERATE	1	SNV	1			1										PASS		rs770534374	.												C	3	2	14	111247936	111247936	G	C	1	0	0	0	0	1	0	0	0	2324	1116	39	4		4	CAPN6	23	111247936	Missense_Mutation	SNP	G	C3L-00279_TP	796133	111247936	44792959	679	6754											
TRPC5	0	.	GRCh38	chrX	111912338	111912338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcaacttggccaggtcatGgtacttctgagggtcaagct	8	12	11	10	0	4	1	3	1	1	0	4	1	4	1	1	4	3	2	1	4	3	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.853C>A	p.His285Asn	p.H285N	ENST00000262839	3/11	112	106	6	75	75	0	strelka-varscan-mutect	TRPC5,missense_variant,p.His285Asn,ENST00000262839,NM_012471.2;	T	ENST00000262839	Transcript	missense_variant	1772/5839	853/2922	285/973	H/N	Cat/Aat		1		-1	TRPC5	HGNC	HGNC:12337	protein_coding	YES	CCDS14561.1	ENSP00000262839	Q9UL62		UPI00001374B6	NM_012471.2	tolerated(0.92)		3/11		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF24,TIGRFAM_domain:TIGR00870,Prints_domain:PR01646																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	111912338	111912338	G	T	1	0	0	0	0	1	0	0	0	17087	1348	47	2		2	TRPC5	23	111912338	Missense_Mutation	SNP	G	C3L-00279_TP	664402	111912338	44128557	680	6755											
RP13-347D8.7	0	.	GRCh38	chrX	119073334	119073334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgggagggcggtgactctGgccccgacagtggcaacact	8	5	15	13	3	1	1	0	1	1	0	1	3	1	2	3	5	1	1	3	5	1	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.109G>T	p.Gly37Cys	p.G37C	ENST00000620151	1/3	43	39	4	64	64	0	strelka-varscan-mutect	RP13-347D8.7,missense_variant,p.Gly37Cys,ENST00000620151,;	T	ENST00000620151	Transcript	missense_variant	109/1147	109/975	37/324	G/C	Ggc/Tgc		1		1	RP13-347D8.7	Clone_based_vega_gene		protein_coding	YES		ENSP00000488984		A0A0U1RQG5	UPI000719A0D1		deleterious(0.01)		1/3		hmmpanther:PTHR32157,hmmpanther:PTHR32157:SF2,Pfam_domain:PF15623																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	119073334	119073334	G	T	1	0	0	0	0	1	0	0	0	13772	1348	47	2		2	RP13-347D8.7	23	119073334	Missense_Mutation	SNP	G	C3L-00279_TP	7160996	119073334	36967561	681	6756											
KIAA1210	0	.	GRCh38	chrX	119123639	119123639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatttcacttagtgattcagCcattgtaggatgactaaaat	14	14	7	6	0	2	2	2	2	0	0	2	3	2	3	1	1	1	1	1	1	5	6	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.424G>A	p.Ala142Thr	p.A142T	ENST00000402510	3/14	203	191	12	84	84	0	varscan-mutect	KIAA1210,missense_variant,p.Ala142Thr,ENST00000402510,NM_020721.1;	T	ENST00000402510	Transcript	missense_variant	424/7824	424/5130	142/1709	A/T	Gct/Act		1		-1	KIAA1210	HGNC	HGNC:29218	protein_coding	YES	CCDS48156.1	ENSP00000384670	Q9ULL0		UPI0001596C4C	NM_020721.1	tolerated(0.17)		3/14		hmmpanther:PTHR22118:SF15,hmmpanther:PTHR22118																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	119123639	119123639	C	T	1	0	0	0	0	1	0	0	0	8106	739	26	3		3	KIAA1210	23	119123639	Missense_Mutation	SNP	C	C3L-00279_TP	50305	119123639	36917256	682	6757											
GRIA3	0	.	GRCh38	chrX	123185919	123185919	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaccagaacaccaccgAgaagcccttccatttgaatt	14	7	5	15	1	0	3	0	1	0	2	1	4	1	3	6	0	3	0	6	0	4	3	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.197A>T	p.Glu66Val	p.E66V	ENST00000622768	2/16	1010	858	152	803	803	0	strelka-varscan-mutect	GRIA3,missense_variant,p.Glu66Val,ENST00000622768,NM_000828.4;GRIA3,missense_variant,p.Glu66Val,ENST00000620443,NM_007325.4;GRIA3,missense_variant,p.Glu66Val,ENST00000620581,;GRIA3,missense_variant,p.Glu66Val,ENST00000541091,;GRIA3,missense_variant,p.Glu66Val,ENST00000611689,NM_001256743.1;GRIA3,missense_variant,p.Glu66Val,ENST00000616590,;GRIA3,non_coding_transcript_exon_variant,,ENST00000479118,;	T	ENST00000622768	Transcript	missense_variant	490/5173	197/2685	66/894	E/V	gAg/gTg		1		1	GRIA3	HGNC	HGNC:4573	protein_coding	YES	CCDS14604.1	ENSP00000481554	P42263		UPI000013D503	NM_000828.4	deleterious(0.05)		2/16		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151,Superfamily_domains:SSF53822																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	14	123185919	123185919	A	T	1	0	0	0	0	1	0	0	0	6649	304	11	4		4	GRIA3	23	123185919	Missense_Mutation	SNP	A	C3L-00279_TP	4062280	123185919	32854976	683	6758											
TENM1	0	.	GRCh38	chrX	124420337	124420337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggttgtccatccattttcGttacttttggtagccagaag	8	15	9	9	2	0	1	0	0	0	1	3	1	2	1	3	2	2	3	3	2	3	7	rs147511186		C3L-00279_TP	C3L-00279_NB	G	G																c.4956C>A	p.Asn1652Lys	p.N1652K	ENST00000422452	25/32	128	98	30	87	87	0	strelka-varscan-mutect	TENM1,missense_variant,p.Asn1652Lys,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,missense_variant,p.Asn1645Lys,ENST00000371130,NM_014253.3;STAG2,intron_variant,,ENST00000469481,;	T	ENST00000422452	Transcript	missense_variant	5020/12891	4956/8199	1652/2732	N/K	aaC/aaA	rs147511186	1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1	deleterious(0.02)		25/32		hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219,TIGRFAM_domain:TIGR01643,Gene3D:2.120.10.30,Superfamily_domains:SSF63829																	MODERATE	1	SNV	1			1										PASS		rs147511186	.												T	3	4	14	124420337	124420337	G	T	1	0	0	0	0	1	0	0	0	16171	1136	40	1		1	TENM1	23	124420337	Missense_Mutation	SNP	G	C3L-00279_TP	1234418	124420337	31620558	684	6759											
TEX13C	0	.	GRCh38	chrX	125320292	125320292	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccattgtggccgacccgcGggtgccccgtgccattaaga	6	7	14	14	4	0	1	0	0	0	1	0	2	0	1	6	3	2	0	6	3	1	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.173G>C	p.Arg58Pro	p.R58P	ENST00000632600	1/1	250	223	27	187	187	0	strelka-varscan-mutect	TEX13C,missense_variant,p.Arg58Pro,ENST00000632600,NM_001195272.1;	C	ENST00000632600	Transcript	missense_variant	173/5095	173/2982	58/993	R/P	cGg/cCg		1		1	TEX13C	HGNC	HGNC:52277	protein_coding	YES		ENSP00000488022	A0A0J9YWL9		UPI000016014C	NM_001195272.1	deleterious(0.02)		1/1		hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF32,Pfam_domain:PF15186																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	14	125320292	125320292	G	C	1	0	0	0	0	1	0	0	0	16199	1116	39	4		4	TEX13C	23	125320292	Missense_Mutation	SNP	G	C3L-00279_TP	899955	125320292	30720603	685	6760											
DCAF12L2	0	.	GRCh38	chrX	126164539	126164539	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaggcgtccatccttaactCcagaggcctgcgtagttccc	8	9	9	15	2	0	1	0	0	0	1	4	1	4	1	5	2	2	2	5	2	3	3			C3L-00279_TP	C3L-00279_NB	C	C																c.1386G>A	p.Trp462Ter	p.W462*	ENST00000360028	1/1	116	110	6	94	94	0	strelka-varscan-mutect	DCAF12L2,stop_gained,p.Trp462Ter,ENST00000360028,NM_001013628.2;	T	ENST00000360028	Transcript	stop_gained	1559/2599	1386/1392	462/463	W/*	tgG/tgA	COSM227964	1		-1	DCAF12L2	HGNC	HGNC:32950	protein_coding	YES	CCDS43991.1	ENSP00000353128	Q5VW00		UPI0000197594	NM_001013628.2			1/1		hmmpanther:PTHR19860:SF8,hmmpanther:PTHR19860											1						HIGH	1	SNV			1	1										PASS		.	.												T	4	4	14	126164539	126164539	C	T	1	0	0	0	0	0	1	0	0	4066	856	30	3		3	DCAF12L2	23	126164539	Nonsense_Mutation	SNP	C	C3L-00279_TP	844247	126164539	29876356	686	6761											
XPNPEP2	0	.	GRCh38	chrX	129767646	129767646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaagtggtatcatttgtgcCctatgaccggaacctcatcg	9	12	10	10	2	2	2	2	2	0	0	3	3	2	3	3	2	2	1	3	2	4	3	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.1784C>A	p.Pro595His	p.P595H	ENST00000371106	20/21	422	378	44	297	297	0	strelka-varscan-mutect	XPNPEP2,missense_variant,p.Pro595His,ENST00000371106,NM_003399.5;	A	ENST00000371106	Transcript	missense_variant	1976/3270	1784/2025	595/674	P/H	cCc/cAc		1		1	XPNPEP2	HGNC	HGNC:12823	protein_coding	YES	CCDS14613.1	ENSP00000360147	O43895		UPI000013901A	NM_003399.5	deleterious(0)		20/21		hmmpanther:PTHR10804,hmmpanther:PTHR10804:SF98,Gene3D:3.90.230.10,Pfam_domain:PF16188,Superfamily_domains:SSF55920																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	129767646	129767646	C	A	1	0	0	0	0	1	0	0	0	18002	623	22	2		2	XPNPEP2	23	129767646	Missense_Mutation	SNP	C	C3L-00279_TP	3603107	129767646	26273249	687	6762											
BCORL1	0	.	GRCh38	chrX	130013648	130013648	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttctgctcccccttcAggcccggttcccttgtcggc	2	11	9	19	2	2	0	1	0	1	0	5	0	4	0	5	3	2	3	5	3	0	4	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.876A>T	p.=	p.S292S	ENST00000540052	3/12	365	315	50	254	254	0	strelka-varscan-mutect	BCORL1,synonymous_variant,p.=,ENST00000540052,NM_021946.4;BCORL1,synonymous_variant,p.=,ENST00000218147,;BCORL1,upstream_gene_variant,,ENST00000456822,;BCORL1,upstream_gene_variant,,ENST00000441294,;BCORL1,downstream_gene_variant,,ENST00000488135,;	T	ENST00000540052	Transcript	synonymous_variant	920/7127	876/5136	292/1711	S	tcA/tcT		1		1	BCORL1	HGNC	HGNC:25657	protein_coding	YES	CCDS14616.1	ENSP00000437775	Q5H9F3		UPI0001D3414A	NM_021946.4			3/12		Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	14	130013648	130013648	A	T	1	0	0	0	0	0	0	0	1	1534	175	7	4		4	BCORL1	23	130013648	Silent	SNP	A	C3L-00279_TP	246002	130013648	26027247	688	6763											
ELF4	0	.	GRCh38	chrX	130069530	130069530	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtactggcagaggccacagaGgccgtggaggcctgaggtgg	8	5	19	9	1	0	3	0	1	0	2	0	4	0	4	3	7	1	2	3	7	1	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.957C>T	p.=	p.A319A	ENST00000308167	8/9	213	194	19	177	177	0	strelka-varscan-mutect	ELF4,synonymous_variant,p.=,ENST00000308167,NM_001421.3;ELF4,synonymous_variant,p.=,ENST00000335997,NM_001127197.1;ELF4,synonymous_variant,p.=,ENST00000615377,;ELF4,downstream_gene_variant,,ENST00000434609,;	A	ENST00000308167	Transcript	synonymous_variant	1337/4165	957/1992	319/663	A	gcC/gcT		1		-1	ELF4	HGNC	HGNC:3319	protein_coding	YES	CCDS14617.1	ENSP00000311280	Q99607		UPI0000072B32	NM_001421.3			8/9		hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF170,Low_complexity_(Seg):seg,Superfamily_domains:SSF46785																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	130069530	130069530	G	A	1	0	0	0	0	0	0	0	1	4889	987	35	3		3	ELF4	23	130069530	Silent	SNP	G	C3L-00279_TP	55882	130069530	25971365	689	6764											
RAB33A	0	.	GRCh38	chrX	130184476	130184476	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccaaagtgcttgtgggCaacaagtgtgacttgaggga	10	9	14	8	0	0	2	0	2	0	0	1	3	1	3	2	2	2	2	2	2	3	2	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.450C>A	p.=	p.G150G	ENST00000257017	2/2	443	407	36	337	337	0	strelka-varscan-mutect	RAB33A,synonymous_variant,p.=,ENST00000257017,NM_004794.2;	A	ENST00000257017	Transcript	synonymous_variant	864/1258	450/714	150/237	G	ggC/ggA		1		1	RAB33A	HGNC	HGNC:9773	protein_coding	YES	CCDS14621.1	ENSP00000257017	Q14088		UPI000000126B	NM_004794.2			2/2		PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF326,hmmpanther:PTHR24073,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	14	130184476	130184476	C	A	1	0	0	0	0	0	0	0	1	13081	697	25	2		2	RAB33A	23	130184476	Silent	SNP	C	C3L-00279_TP	114946	130184476	25856419	690	6765											
IGSF1	0	.	GRCh38	chrX	131275271	131275271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggctgggctaataggctgGgtttggggagtaagcctgga	8	9	18	6	0	0	0	0	0	0	0	0	2	0	2	1	7	1	5	1	7	3	4	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.3215C>A	p.Pro1072His	p.P1072H	ENST00000370903	17/20	227	200	27	169	169	0	strelka-varscan-mutect	IGSF1,missense_variant,p.Pro1058His,ENST00000370904,;IGSF1,missense_variant,p.Pro1072His,ENST00000370903,NM_001170961.1;IGSF1,missense_variant,p.Pro1058His,ENST00000370910,NM_001170962.1;IGSF1,missense_variant,p.Pro1067His,ENST00000361420,NM_001555.4;IGSF1,downstream_gene_variant,,ENST00000467244,;	T	ENST00000370903	Transcript	missense_variant	3498/4594	3215/4026	1072/1341	P/H	cCc/cAc		1		-1	IGSF1	HGNC	HGNC:5948	protein_coding	YES	CCDS55491.1	ENSP00000359940	Q8N6C5		UPI0000E0C769	NM_001170961.1	deleterious(0)		17/20		PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF102,Gene3D:2.60.40.10,Pfam_domain:PF13895,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	131275271	131275271	G	T	1	0	0	0	0	1	0	0	0	7503	1232	43	2		2	IGSF1	23	131275271	Missense_Mutation	SNP	G	C3L-00279_TP	1090795	131275271	24765624	691	6766											
IGSF1	0	.	GRCh38	chrX	131277176	131277176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaagtcactcgggcaccagGggtgaccacagggctggccc	9	4	15	13	1	1	1	1	1	0	0	2	2	1	1	3	5	0	2	3	5	1	0	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.2386C>A	p.Pro796Thr	p.P796T	ENST00000370903	14/20	269	231	38	197	196	1	varscan-mutect	IGSF1,missense_variant,p.Pro782Thr,ENST00000370904,;IGSF1,missense_variant,p.Pro796Thr,ENST00000370903,NM_001170961.1;IGSF1,missense_variant,p.Pro782Thr,ENST00000370910,NM_001170962.1;IGSF1,missense_variant,p.Pro791Thr,ENST00000361420,NM_001555.4;IGSF1,non_coding_transcript_exon_variant,,ENST00000467244,;IGSF1,downstream_gene_variant,,ENST00000469836,;	T	ENST00000370903	Transcript	missense_variant	2669/4594	2386/4026	796/1341	P/T	Cct/Act		1		-1	IGSF1	HGNC	HGNC:5948	protein_coding	YES	CCDS55491.1	ENSP00000359940	Q8N6C5		UPI0000E0C769	NM_001170961.1	tolerated(0.05)		14/20		PROSITE_profiles:PS50835,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	131277176	131277176	G	T	1	0	0	0	0	1	0	0	0	7503	1232	43	2		2	IGSF1	23	131277176	Missense_Mutation	SNP	G	C3L-00279_TP	1905	131277176	24763719	692	6767											
IGSF1	0	.	GRCh38	chrX	131285237	131285237	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cacagggtggggagcatctgGatatgagtgcggcagatgta	10	8	17	6	1	1	2	0	1	1	1	1	4	1	4	0	5	2	3	0	5	2	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.609C>G	p.Ile203Met	p.I203M	ENST00000370903	5/20	126	117	9	99	99	0	strelka-varscan-mutect	IGSF1,missense_variant,p.Ile194Met,ENST00000370904,;IGSF1,missense_variant,p.Ile203Met,ENST00000370903,NM_001170961.1;IGSF1,missense_variant,p.Ile194Met,ENST00000370910,NM_001170962.1;IGSF1,missense_variant,p.Ile203Met,ENST00000361420,NM_001555.4;IGSF1,missense_variant,p.Ile203Met,ENST00000370901,NM_205833.3;IGSF1,missense_variant,p.Ile203Met,ENST00000370900,NM_001170963.1;IGSF1,upstream_gene_variant,,ENST00000469836,;	C	ENST00000370903	Transcript	missense_variant	892/4594	609/4026	203/1341	I/M	atC/atG		1		-1	IGSF1	HGNC	HGNC:5948	protein_coding	YES	CCDS55491.1	ENSP00000359940	Q8N6C5		UPI0000E0C769	NM_001170961.1	tolerated(0.11)		5/20		Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	14	131285237	131285237	G	C	1	0	0	0	0	1	0	0	0	7503	1164	41	4		4	IGSF1	23	131285237	Missense_Mutation	SNP	G	C3L-00279_TP	8061	131285237	24755658	693	6768											
FRMD7	0	.	GRCh38	chrX	132078378	132078378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttcttggagtacttgcaGgtcttgctgaaagctcttca	8	14	10	9	0	4	1	1	1	3	0	4	2	4	2	0	2	5	5	0	2	2	6	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1639C>A	p.Leu547Met	p.L547M	ENST00000298542	12/12	682	640	42	402	402	0	strelka-varscan-mutect	FRMD7,missense_variant,p.Leu547Met,ENST00000298542,NM_194277.2;FRMD7,missense_variant,p.Leu427Met,ENST00000370879,;FRMD7,missense_variant,p.Leu532Met,ENST00000464296,NM_001306193.1;STK26,downstream_gene_variant,,ENST00000394334,NM_016542.3;STK26,downstream_gene_variant,,ENST00000354719,;STK26,downstream_gene_variant,,ENST00000394335,NM_001042453.1;STK26,downstream_gene_variant,,ENST00000481105,;STK26,downstream_gene_variant,,ENST00000496850,NM_001042452.1;	T	ENST00000298542	Transcript	missense_variant	1815/3198	1639/2145	547/714	L/M	Ctg/Atg		1		-1	FRMD7	HGNC	HGNC:8079	protein_coding	YES	CCDS35397.1	ENSP00000298542	Q6ZUT3		UPI00001C0AED	NM_194277.2	deleterious(0.04)		12/12		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	132078378	132078378	G	T	1	0	0	0	0	1	0	0	0	5925	991	35	2		2	FRMD7	23	132078378	Missense_Mutation	SNP	G	C3L-00279_TP	793141	132078378	23962517	694	6769											
ADGRG4	0	.	GRCh38	chrX	136345234	136345234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtccattcattgactctcCcaactaggcttattgagacc	10	12	6	13	0	2	2	1	2	1	1	4	3	3	2	3	1	1	1	3	1	3	5	rs775821351		C3L-00279_TP	C3L-00279_NB	C	C																c.1528C>T	p.Pro510Ser	p.P510S	ENST00000394143	6/26	326	309	17	168	168	0	strelka-varscan-mutect	ADGRG4,missense_variant,p.Pro510Ser,ENST00000394143,NM_153834.3;ADGRG4,missense_variant,p.Pro510Ser,ENST00000370652,;ADGRG4,missense_variant,p.Pro305Ser,ENST00000394141,;	T	ENST00000394143	Transcript	missense_variant	1819/9931	1528/9243	510/3080	P/S	Cca/Tca	rs775821351,COSM1569686	1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3	tolerated(0.15)		6/26													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs775821351	.												T	3	4	14	136345234	136345234	C	T	1	0	0	0	0	1	0	0	0	371	623	22	3		3	ADGRG4	23	136345234	Missense_Mutation	SNP	C	C3L-00279_TP	4266856	136345234	19695661	695	6770											
ADGRG4	0	.	GRCh38	chrX	136345736	136345736	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaccatactcacatttgTgcctaatgaaaattttacat	15	13	3	10	0	1	1	1	1	0	0	1	1	1	1	3	0	4	0	3	0	6	5	novel		C3L-00279_TP	C3L-00279_NB	T	T																c.2030T>A	p.Val677Glu	p.V677E	ENST00000394143	6/26	341	315	26	234	234	0	strelka-varscan-mutect	ADGRG4,missense_variant,p.Val677Glu,ENST00000394143,NM_153834.3;ADGRG4,missense_variant,p.Val677Glu,ENST00000370652,;ADGRG4,missense_variant,p.Val472Glu,ENST00000394141,;	A	ENST00000394143	Transcript	missense_variant	2321/9931	2030/9243	677/3080	V/E	gTg/gAg		1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3	deleterious(0)		6/26																			MODERATE	1	SNV	1			1										PASS		rs956197378	.												A	3	1	14	136345736	136345736	T	A	1	0	0	0	0	1	0	0	0	371	1696	59	4		4	ADGRG4	23	136345736	Missense_Mutation	SNP	T	C3L-00279_TP	502	136345736	19695159	696	6771											
MAGEC2	0	.	GRCh38	chrX	142203716	142203716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgggaaggaccctgtggaGgaccctgtggaggactactg	8	8	16	9	0	1	0	0	0	1	0	1	6	1	6	2	6	1	0	2	6	2	1	rs746859287		C3L-00279_TP	C3L-00279_NB	G	G																c.272C>A	p.Pro91His	p.P91H	ENST00000247452	3/3	168	128	40	133	132	1	strelka-varscan-mutect	MAGEC2,missense_variant,p.Pro91His,ENST00000247452,NM_016249.3;	T	ENST00000247452	Transcript	missense_variant	620/1991	272/1122	91/373	P/H	cCt/cAt	rs746859287	1		-1	MAGEC2	HGNC	HGNC:13574	protein_coding	YES	CCDS14678.1	ENSP00000354660	Q9UBF1		UPI000012F059	NM_016249.3	deleterious(0.02)		3/3		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs746859287	.												T	3	4	14	142203716	142203716	G	T	1	0	0	0	0	1	0	0	0	9099	1000	35	2		2	MAGEC2	23	142203716	Missense_Mutation	SNP	G	C3L-00279_TP	5857980	142203716	13837179	697	6772											
SLITRK4	0	.	GRCh38	chrX	143629577	143629577	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggaccccgctgacaggcAggtacatgaatttgttgttc	10	10	11	10	1	0	2	0	2	0	0	1	3	0	3	2	3	1	5	2	3	3	4	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.1532T>G	p.Leu511Arg	p.L511R	ENST00000596188	2/2	438	404	34	302	301	1	strelka-varscan-mutect	SLITRK4,missense_variant,p.Leu511Arg,ENST00000596188,NM_001184750.2;SLITRK4,missense_variant,p.Leu511Arg,ENST00000338017,NM_173078.4;SLITRK4,missense_variant,p.Leu511Arg,ENST00000356928,NM_001184749.2;	C	ENST00000596188	Transcript	missense_variant	1758/8545	1532/2514	511/837	L/R	cTg/cGg		1		-1	SLITRK4	HGNC	HGNC:23502	protein_coding	YES	CCDS14679.1	ENSP00000469205	Q8IW52		UPI000004E650	NM_001184750.2	deleterious(0)		2/2		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	14	143629577	143629577	A	C	1	0	0	0	0	1	0	0	0	15036	188	7	5		5	SLITRK4	23	143629577	Missense_Mutation	SNP	A	C3L-00279_TP	1425861	143629577	12411318	698	6773											
IDS	0	.	GRCh38	chrX	149505095	149505095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacggagctcagaaccaGacccagccagagaaggcctc	13	2	12	14	1	1	4	1	0	0	4	2	6	1	5	4	2	3	2	4	2	2	0			C3L-00279_TP	C3L-00279_NB	G	G																c.43C>A	p.Leu15Met	p.L15M	ENST00000340855	1/9	228	215	13	171	171	0	strelka-varscan-mutect	IDS,missense_variant,p.Leu15Met,ENST00000340855,NM_001166550.2,NM_000202.6;IDS,missense_variant,p.Leu15Met,ENST00000370441,NM_006123.4;IDS,missense_variant,p.Leu15Met,ENST00000428056,;IDS,missense_variant,p.Leu15Met,ENST00000521702,;AF011889.5,intron_variant,,ENST00000422081,;AF011889.5,intron_variant,,ENST00000427113,;AF011889.5,intron_variant,,ENST00000523759,;AF011889.5,intron_variant,,ENST00000441880,;IDS,upstream_gene_variant,,ENST00000490775,;IDS,missense_variant,p.Leu15Met,ENST00000466323,;IDS,upstream_gene_variant,,ENST00000464251,;	T	ENST00000340855	Transcript	missense_variant	253/7619	43/1653	15/550	L/M	Ctg/Atg	CD931006	1		-1	IDS	HGNC	HGNC:5389	protein_coding	YES	CCDS14685.1	ENSP00000339801	P22304		UPI000012D213	NM_001166550.2,NM_000202.6	deleterious(0.02)		1/9		hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF207,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	14	149505095	149505095	G	T	1	0	0	0	0	1	0	0	0	7404	933	33	2		2	IDS	23	149505095	Missense_Mutation	SNP	G	C3L-00279_TP	5875518	149505095	6535800	699	6774											
GABRQ	0	.	GRCh38	chrX	152652558	152652558	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggatggcctgattaacgtGgaagacggagtcagctctct	11	9	13	8	2	2	2	1	1	1	1	3	5	2	5	1	4	2	1	1	4	3	1	rs782246365		C3L-00279_TP	C3L-00279_NB	G	G																c.1176G>T	p.=	p.V392V	ENST00000598523	9/9	120	105	15	93	93	0	strelka-varscan-mutect	GABRQ,synonymous_variant,p.=,ENST00000598523,NM_018558.3;	T	ENST00000598523	Transcript	synonymous_variant	1196/6172	1176/1899	392/632	V	gtG/gtT	rs782246365	1		1	GABRQ	HGNC	HGNC:14454	protein_coding	YES	CCDS14707.1	ENSP00000469332	Q9UN88		UPI000013DAC0	NM_018558.3			9/9																			LOW	1	SNV	1			1										PASS		rs782246365	.												T	2	4	14	152652558	152652558	G	T	1	0	0	0	0	0	0	0	1	6046	1335	47	2		2	GABRQ	23	152652558	Silent	SNP	G	C3L-00279_TP	3147463	152652558	3388337	700	6775											
MAGEA6	0	.	GRCh38	chrX	152767319	152767319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaacttggccaccttcCtactgagtgctgcttggaac	9	10	9	13	0	0	1	0	1	0	0	1	3	1	2	4	2	6	2	4	2	4	4	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.332G>C	p.Arg111Thr	p.R111T	ENST00000616035	3/3	570	512	58	518	518	0	strelka-varscan-mutect	MAGEA6,missense_variant,p.Arg111Thr,ENST00000616035,NM_175868.1;MAGEA6,missense_variant,p.Arg111Thr,ENST00000329342,NM_005363.2;MAGEA6,missense_variant,p.Arg111Thr,ENST00000457643,;MAGEA6,missense_variant,p.Arg111Thr,ENST00000412733,;	G	ENST00000616035	Transcript	missense_variant	590/1762	332/945	111/314	R/T	aGg/aCg		1		-1	MAGEA6	HGNC	HGNC:6804	protein_coding	YES	CCDS76050.1	ENSP00000480637	P43360		UPI000000D9B0	NM_175868.1	tolerated(0.11)		3/3		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF60,hmmpanther:PTHR11736																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	14	152767319	152767319	C	G	1	0	0	0	0	1	0	0	0	9085	681	24	4		4	MAGEA6	23	152767319	Missense_Mutation	SNP	C	C3L-00279_TP	114761	152767319	3273576	701	6776											
ZNF185	0	.	GRCh38	chrX	152965445	152965445	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctgtgctccttctacAgcaaagggattctcttcgtg	6	16	8	11	1	4	0	0	0	4	0	7	1	5	1	1	1	3	2	1	1	2	6	novel		C3L-00279_TP	C3L-00279_NB	A	A																c.1812-2A>T		p.X604_splice	ENST00000535861		166	155	11	103	103	0	strelka-varscan-mutect	ZNF185,splice_acceptor_variant,,ENST00000535861,NM_001178106.1;ZNF185,splice_acceptor_variant,,ENST00000539731,NM_001178107.1,NM_001178109.1;ZNF185,splice_acceptor_variant,,ENST00000449285,NM_001178108.1;ZNF185,splice_acceptor_variant,,ENST00000370268,NM_007150.3;ZNF185,splice_acceptor_variant,,ENST00000318504,NM_001178110.1;ZNF185,splice_acceptor_variant,,ENST00000318529,NM_001178113.1;ZNF185,splice_acceptor_variant,,ENST00000324823,;ZNF185,splice_acceptor_variant,,ENST00000426821,;ZNF185,splice_acceptor_variant,,ENST00000454925,NM_001178115.1;ZNF185,splice_acceptor_variant,,ENST00000370270,;ZNF185,splice_acceptor_variant,,ENST00000436731,;	T	ENST00000535861	Transcript	splice_acceptor_variant	-/4421	1812/2166	604/721				1		1	ZNF185	HGNC	HGNC:12976	protein_coding	YES	CCDS55529.1	ENSP00000440847	O15231		UPI0001D27F7E	NM_001178106.1				19/23																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	14	152965445	152965445	A	T	1	0	0	0	0	0	0	1	0	18332	202	7	4		4	ZNF185	23	152965445	Splice_Site	SNP	A	C3L-00279_TP	198126	152965445	3075450	702	6777											
TREX2	0	.	GRCh38	chrX	153444890	153444890	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgcttggctctgcccGgaagtagcggtggaagaggc	6	7	18	10	3	1	1	0	0	1	1	1	3	1	3	1	6	3	4	1	6	3	2	rs141205509		C3L-00279_TP	C3L-00279_NB	G	G																c.541C>A	p.=	p.R181R	ENST00000330912	13/13	347	321	26	262	260	2	strelka-varscan-mutect	TREX2,synonymous_variant,p.=,ENST00000330912,;TREX2,synonymous_variant,p.=,ENST00000338525,;TREX2,synonymous_variant,p.=,ENST00000334497,;TREX2,synonymous_variant,p.=,ENST00000370232,;TREX2,synonymous_variant,p.=,ENST00000370231,NM_080701.3;TREX2,synonymous_variant,p.=,ENST00000393862,;TREX2,synonymous_variant,p.=,ENST00000370212,;HAUS7,downstream_gene_variant,,ENST00000370211,NM_017518.7;HAUS7,downstream_gene_variant,,ENST00000435662,;HAUS7,downstream_gene_variant,,ENST00000484394,;HAUS7,downstream_gene_variant,,ENST00000491286,;HAUS7,downstream_gene_variant,,ENST00000437046,;HAUS7,downstream_gene_variant,,ENST00000460898,;	T	ENST00000330912	Transcript	synonymous_variant	2092/2262	541/711	181/236	R	Cgg/Agg	rs141205509	1		-1	TREX2	HGNC	HGNC:12270	protein_coding	YES	CCDS35437.1	ENSP00000333441	Q9BQ50		UPI000006F0D9				13/13		Gene3D:3.30.420.10,hmmpanther:PTHR13058,hmmpanther:PTHR13058:SF20,SMART_domains:SM00479,Superfamily_domains:SSF53098																	LOW	1	SNV	1			1										PASS		rs141205509	.												T	2	4	14	153444890	153444890	G	T	1	0	0	0	0	0	0	0	1	16966	1115	39	1		1	TREX2	23	153444890	Silent	SNP	G	C3L-00279_TP	479445	153444890	2596005	703	6778											
ATP2B3	0	.	GRCh38	chrX	153565064	153565064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagctccgcaggggccaGatcctctggttccggggcct	4	7	16	14	3	1	1	0	0	1	1	4	2	4	2	5	6	1	3	5	6	0	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.3303G>T	p.Gln1101His	p.Q1101H	ENST00000263519	19/20	266	181	85	274	272	2	strelka-varscan-mutect	ATP2B3,missense_variant,p.Gln1087His,ENST00000370186,;ATP2B3,missense_variant,p.Gln1101His,ENST00000263519,NM_001001344.2;ATP2B3,missense_variant,p.Gln1101His,ENST00000349466,;ATP2B3,missense_variant,p.Gln1101His,ENST00000359149,NM_021949.3;ATP2B3,missense_variant,p.Gln1087His,ENST00000393842,;ATP2B3,downstream_gene_variant,,ENST00000460549,;ATP2B3,upstream_gene_variant,,ENST00000496610,;	T	ENST00000263519	Transcript	missense_variant	3429/6420	3303/3663	1101/1220	Q/H	caG/caT		1		1	ATP2B3	HGNC	HGNC:816	protein_coding	YES	CCDS35440.1	ENSP00000263519	Q16720		UPI00001AE881	NM_001001344.2	deleterious(0.03)		19/20		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF284,Pfam_domain:PF12424																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	14	153565064	153565064	G	T	1	0	0	0	0	1	0	0	0	1294	933	33	2		2	ATP2B3	23	153565064	Missense_Mutation	SNP	G	C3L-00279_TP	120174	153565064	2475831	704	6779											
PNCK	0	.	GRCh38	chrX	153670578	153670578	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatgtggcgcaggaacgagGtggcattgaaggctcgctgc	8	7	18	8	3	0	1	0	1	0	0	1	4	0	3	0	6	2	4	0	6	2	1	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.1160C>G	p.Thr387Ser	p.T387S	ENST00000447676	11/12	225	186	39	181	181	0	strelka-varscan-mutect	PNCK,missense_variant,p.Thr304Ser,ENST00000370150,;PNCK,missense_variant,p.Thr387Ser,ENST00000447676,NM_001039582.3;PNCK,missense_variant,p.Thr327Ser,ENST00000370142,;PNCK,missense_variant,p.Thr304Ser,ENST00000340888,;PNCK,missense_variant,p.Thr321Ser,ENST00000370145,NM_001135740.1;PNCK,missense_variant,p.Thr36Ser,ENST00000438984,;PNCK,downstream_gene_variant,,ENST00000422811,;PNCK,downstream_gene_variant,,ENST00000439087,;PNCK,downstream_gene_variant,,ENST00000425526,;PNCK,downstream_gene_variant,,ENST00000418241,;PNCK,downstream_gene_variant,,ENST00000419804,;PNCK,downstream_gene_variant,,ENST00000458354,;PNCK,downstream_gene_variant,,ENST00000423545,;PNCK,downstream_gene_variant,,ENST00000434652,;RN7SL687P,downstream_gene_variant,,ENST00000480496,;PNCK,downstream_gene_variant,,ENST00000475172,;PNCK,downstream_gene_variant,,ENST00000462280,;PNCK,downstream_gene_variant,,ENST00000460106,;PNCK,non_coding_transcript_exon_variant,,ENST00000472324,;PNCK,non_coding_transcript_exon_variant,,ENST00000466074,;PNCK,non_coding_transcript_exon_variant,,ENST00000488994,;PNCK,downstream_gene_variant,,ENST00000473680,;PNCK,downstream_gene_variant,,ENST00000466638,;PNCK,downstream_gene_variant,,ENST00000488168,;PNCK,downstream_gene_variant,,ENST00000465303,;PNCK,downstream_gene_variant,,ENST00000489536,;PNCK,downstream_gene_variant,,ENST00000463548,;PNCK,downstream_gene_variant,,ENST00000433470,;PNCK,downstream_gene_variant,,ENST00000411968,;PNCK,downstream_gene_variant,,ENST00000466662,;	C	ENST00000447676	Transcript	missense_variant	1346/1585	1160/1281	387/426	T/S	aCc/aGc		1		-1	PNCK	HGNC	HGNC:13415	protein_coding	YES	CCDS35503.2	ENSP00000405950	Q6P2M8		UPI0000237966	NM_001039582.3	deleterious(0.03)		11/12		hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF113,Gene3D:1.10.510.10																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	14	153670578	153670578	G	C	1	0	0	0	0	1	0	0	0	12252	1261	44	4		4	PNCK	23	153670578	Missense_Mutation	SNP	G	C3L-00279_TP	105514	153670578	2370317	705	6780											
PLXNB3	0	.	GRCh38	chrX	153769813	153769813	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctgcctggcaggtgtacCcggaagggccagtgcgggcg	5	5	17	14	3	0	0	0	0	0	0	0	1	0	1	5	5	3	2	5	5	2	1	rs782235610		C3L-00279_TP	C3L-00279_NB	C	C																c.1572C>A	p.=	p.T524T	ENST00000538966	8/37	178	154	24	169	169	0	strelka-varscan-mutect	PLXNB3,synonymous_variant,p.=,ENST00000538966,NM_001163257.1;PLXNB3,synonymous_variant,p.=,ENST00000361971,NM_005393.2;PLXNB3,upstream_gene_variant,,ENST00000411613,;U52111.14,upstream_gene_variant,,ENST00000434284,;U52111.14,upstream_gene_variant,,ENST00000416854,;	A	ENST00000538966	Transcript	synonymous_variant	1843/6377	1572/5799	524/1932	T	acC/acA	rs782235610	1		1	PLXNB3	HGNC	HGNC:9105	protein_coding	YES	CCDS55536.1	ENSP00000442736	Q9ULL4		UPI0001AFF680	NM_001163257.1			8/37		Gene3D:3.30.1680.10,Pfam_domain:PF01437,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,SMART_domains:SM00423,Superfamily_domains:SSF103575																	LOW		SNV	5			1										PASS		rs782235610	.												A	2	1	14	153769813	153769813	C	A	1	0	0	0	0	0	0	0	1	12231	610	22	2		2	PLXNB3	23	153769813	Silent	SNP	C	C3L-00279_TP	99235	153769813	2271082	706	6781											
PDZD4	0	.	GRCh38	chrX	153803743	153803743	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcagccgatctcgcacGggccgcttggccacgtagcg	6	7	13	15	6	2	0	1	0	1	0	3	1	2	0	3	2	3	4	3	2	1	3	rs375303161		C3L-00279_TP	C3L-00279_NB	G	G																c.1938C>A	p.=	p.P646P	ENST00000393758	8/8	266	235	31	208	208	0	strelka-varscan-mutect	PDZD4,synonymous_variant,p.=,ENST00000393758,NM_001303515.1,NM_001303513.1,NM_001303512.1;PDZD4,synonymous_variant,p.=,ENST00000164640,NM_001303516.1,NM_032512.3;PDZD4,synonymous_variant,p.=,ENST00000544474,NM_001303514.1;PDZD4,downstream_gene_variant,,ENST00000475140,;PDZD4,downstream_gene_variant,,ENST00000483693,;PDZD4,downstream_gene_variant,,ENST00000484792,;PDZD4,downstream_gene_variant,,ENST00000468491,;PDZD4,downstream_gene_variant,,ENST00000480418,;PDZD4,downstream_gene_variant,,ENST00000480650,;	T	ENST00000393758	Transcript	synonymous_variant	2188/3763	1938/2328	646/775	P	ccC/ccA	rs375303161	1		-1	PDZD4	HGNC	HGNC:21167	protein_coding	YES	CCDS78518.1	ENSP00000377355		Q17RL8	UPI0000211CB2	NM_001303515.1,NM_001303513.1,NM_001303512.1			8/8		hmmpanther:PTHR15545,hmmpanther:PTHR15545:SF4																	LOW	1	SNV	1			1										PASS		rs375303161	.												T	2	4	14	153803743	153803743	G	T	1	0	0	0	0	0	0	0	1	11791	1103	39	1		1	PDZD4	23	153803743	Silent	SNP	G	C3L-00279_TP	33930	153803743	2237152	707	6782											
L1CAM	0	.	GRCh38	chrX	153864355	153864355	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcacagccatttggtgccGgaacatcctctccttaaaca	10	11	6	14	1	2	0	1	0	1	0	4	1	3	1	4	2	4	0	4	2	3	3	rs782807254		C3L-00279_TP	C3L-00279_NB	G	G																c.3289C>A	p.=	p.R1097R	ENST00000370060	25/29	449	367	82	349	349	0	strelka-varscan-mutect	L1CAM,synonymous_variant,p.=,ENST00000370060,NM_001278116.1,NM_000425.4;L1CAM,synonymous_variant,p.=,ENST00000361981,NM_001143963.2;L1CAM,synonymous_variant,p.=,ENST00000370055,;L1CAM,synonymous_variant,p.=,ENST00000361699,NM_024003.3;L1CAM,synonymous_variant,p.=,ENST00000370058,;L1CAM,downstream_gene_variant,,ENST00000455590,;L1CAM,upstream_gene_variant,,ENST00000491983,;L1CAM,downstream_gene_variant,,ENST00000474853,;L1CAM,downstream_gene_variant,,ENST00000496122,;L1CAM,downstream_gene_variant,,ENST00000484652,;	T	ENST00000370060	Transcript	synonymous_variant	3479/5113	3289/3774	1097/1257	R	Cgg/Agg	rs782807254,COSM4107900	1		-1	L1CAM	HGNC	HGNC:6470	protein_coding	YES	CCDS14733.1	ENSP00000359077	P32004		UPI0000126E89	NM_001278116.1,NM_000425.4			25/29		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF593,hmmpanther:PTHR10489											0,1						LOW	1	SNV	5		0,1	1										PASS		rs782807254	.												T	2	4	14	153864355	153864355	G	T	1	0	0	0	0	0	0	0	1	8489	1115	39	1		1	L1CAM	23	153864355	Silent	SNP	G	C3L-00279_TP	60612	153864355	2176540	708	6783											
L1CAM	0	.	GRCh38	chrX	153875777	153875777	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacattcctcggggatctgGataagcaggcaggggctgca	9	8	14	10	1	2	0	1	0	1	0	4	2	3	2	1	6	2	4	1	6	1	2	novel		C3L-00279_TP	C3L-00279_NB	G	G																c.60C>A	p.=	p.I20I	ENST00000370060	2/29	632	586	46	531	531	0	strelka-varscan-mutect	L1CAM,synonymous_variant,p.=,ENST00000370060,NM_001278116.1,NM_000425.4;L1CAM,synonymous_variant,p.=,ENST00000361981,NM_001143963.2;L1CAM,synonymous_variant,p.=,ENST00000370055,;L1CAM,synonymous_variant,p.=,ENST00000361699,NM_024003.3;L1CAM,synonymous_variant,p.=,ENST00000439496,;L1CAM,synonymous_variant,p.=,ENST00000458029,;L1CAM,synonymous_variant,p.=,ENST00000407935,;L1CAM,synonymous_variant,p.=,ENST00000420165,;LCA10,upstream_gene_variant,,ENST00000618311,;L1CAM,non_coding_transcript_exon_variant,,ENST00000464967,;L1CAM,non_coding_transcript_exon_variant,,ENST00000460553,;	T	ENST00000370060	Transcript	synonymous_variant	250/5113	60/3774	20/1257	I	atC/atA		1		-1	L1CAM	HGNC	HGNC:6470	protein_coding	YES	CCDS14733.1	ENSP00000359077	P32004		UPI0000126E89	NM_001278116.1,NM_000425.4			2/29		hmmpanther:PTHR10489:SF593,hmmpanther:PTHR10489																	LOW		SNV	5			1										PASS		.	.												T	2	4	14	153875777	153875777	G	T	1	0	0	0	0	0	0	0	1	8489	1164	41	2		2	L1CAM	23	153875777	Silent	SNP	G	C3L-00279_TP	11422	153875777	2165118	709	6784											
IRAK1	0	.	GRCh38	chrX	154019248	154019248	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacttccgggggctccaggCctcggcctcggcgggtgcag	4	6	16	15	4	0	0	0	0	0	0	4	0	2	0	4	6	2	2	4	6	1	1	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.385G>T	p.Ala129Ser	p.A129S	ENST00000369980	3/14	147	137	10	136	136	0	strelka-varscan-mutect	IRAK1,missense_variant,p.Ala129Ser,ENST00000369980,NM_001569.3;IRAK1,missense_variant,p.Ala129Ser,ENST00000369974,NM_001025243.1;IRAK1,missense_variant,p.Ala155Ser,ENST00000429936,;IRAK1,missense_variant,p.Ala129Ser,ENST00000393687,NM_001025242.1;IRAK1,missense_variant,p.Ala125Ser,ENST00000444230,;MECP2,downstream_gene_variant,,ENST00000303391,NM_004992.3;IRAK1,upstream_gene_variant,,ENST00000443220,;IRAK1,upstream_gene_variant,,ENST00000437278,;IRAK1,upstream_gene_variant,,ENST00000455690,;IRAK1,downstream_gene_variant,,ENST00000390190,;IRAK1,upstream_gene_variant,,ENST00000477274,;IRAK1,upstream_gene_variant,,ENST00000467236,;IRAK1,missense_variant,p.Ala155Ser,ENST00000369973,;IRAK1,upstream_gene_variant,,ENST00000463031,;	A	ENST00000369980	Transcript	missense_variant	553/3666	385/2139	129/712	A/S	Gcc/Tcc		1		-1	IRAK1	HGNC	HGNC:6112	protein_coding	YES	CCDS14740.1	ENSP00000358997	P51617		UPI000012D873	NM_001569.3	tolerated(0.3)		3/14		Low_complexity_(Seg):seg,hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	154019248	154019248	C	A	1	0	0	0	0	1	0	0	0	7727	739	26	2		2	IRAK1	23	154019248	Missense_Mutation	SNP	C	C3L-00279_TP	143471	154019248	2021647	710	6785											
F8	0	.	GRCh38	chrX	154930554	154930554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgacatatgatttagcCtcaaagctgtagcatttttg	11	17	7	6	0	1	2	1	2	0	0	1	2	1	2	1	0	3	3	1	0	5	8	rs143174629		C3L-00279_TP	C3L-00279_NB	C	C																c.3236G>T	p.Arg1079Met	p.R1079M	ENST00000360256	14/26	229	216	13	75	75	0	strelka-varscan-mutect	F8,missense_variant,p.Arg1079Met,ENST00000360256,NM_000132.3;	A	ENST00000360256	Transcript	missense_variant	3437/9059	3236/7056	1079/2351	R/M	aGg/aTg	rs143174629	1		-1	F8	HGNC	HGNC:3546	protein_coding	YES	CCDS35457.1	ENSP00000353393	P00451		UPI000012A416	NM_000132.3	tolerated(0.09)		14/26		PIRSF_domain:PIRSF000354																	MODERATE	1	SNV	1			1										PASS		rs143174629	.												A	3	1	14	154930554	154930554	C	A	1	0	0	0	0	1	0	0	0	5218	681	24	2		2	F8	23	154930554	Missense_Mutation	SNP	C	C3L-00279_TP	911306	154930554	1110341	711	6786											
RAB39B	0	.	GRCh38	chrX	155264146	155264146	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggctcgatctccaccaagCgggagaaaaaatccaccccc	12	5	8	16	2	1	1	0	0	1	1	4	3	2	1	5	2	1	1	5	2	4	0	novel		C3L-00279_TP	C3L-00279_NB	C	C																c.143G>T	p.Arg48Leu	p.R48L	ENST00000369454	1/2	554	525	29	465	464	1	strelka-varscan-mutect	RAB39B,missense_variant,p.Arg48Leu,ENST00000369454,NM_171998.3;	A	ENST00000369454	Transcript	missense_variant	444/3505	143/642	48/213	R/L	cGc/cTc		1		-1	RAB39B	HGNC	HGNC:16499	protein_coding	YES	CCDS14766.1	ENSP00000358466	Q96DA2		UPI00000412A6	NM_171998.3	deleterious(0)		1/2		PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF395,hmmpanther:PTHR24073,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	14	155264146	155264146	C	A	1	0	0	0	0	1	0	0	0	13089	768	27	1		1	RAB39B	23	155264146	Missense_Mutation	SNP	C	C3L-00279_TP	333592	155264146	776749	712	6787											
TTC34	0	.	GRCh38	chr1	2787614	2787614	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccaggcggcccaggcggTacagggcatcagccgccagg	7	3	15	16	3	1	0	1	0	0	0	2	0	2	0	5	6	2	2	5	6	1	1	novel		C3L-00368_TP	C3L-00368_NB	T	T																c.182A>T	p.Tyr61Phe	p.Y61F	ENST00000637179	2/7	90	78	12	99	99	0	strelka-varscan-mutect	TTC34,missense_variant,p.Tyr574Phe,ENST00000401095,;TTC34,missense_variant,p.Tyr61Phe,ENST00000637179,NM_001242672.1;	A	ENST00000637179	Transcript	missense_variant	256/1775	182/1701	61/566	Y/F	tAc/tTc		1		-1	TTC34	HGNC	HGNC:34297	protein_coding	YES	CCDS55565.1	ENSP00000490537			UPI00017503B1	NM_001242672.1	deleterious(0.01)		2/7		PROSITE_profiles:PS50293,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF341,Gene3D:1.25.40.10,Superfamily_domains:SSF48452																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	15	2787614	2787614	T	A	1	0	0	0	0	1	0	0	0	17212	1638	57	4		4	TTC34	1	2787614	Missense_Mutation	SNP	T	C3L-00368_TP		2787614	246168808	1	6788											
UBR4	0	.	GRCh38	chr1	19081536	19081558	+	Frame_Shift_Del	DEL	CTTGGAGGTTCTTCTCTTCTCGG	CTTGGAGGTTCTTCTCTTCTCGG	-																															cttgggctgttccagaaagcCttggaggttcttctcttctc																								novel		C3L-00368_TP	C3L-00368_NB	CTTGGAGGTTCTTCTCTTCTCGG	CTTGGAGGTTCTTCTCTTCTCGG																c.15024_15046delCCGAGAAGAGAAGAACCTCCAAG	p.Arg5009LeufsTer15	p.R5009Lfs*15	ENST00000375254	103/106	215	175	40	282	282	0	sindel-varindel-pindel	UBR4,frameshift_variant,p.Arg5009LeufsTer15,ENST00000375254,NM_020765.2;UBR4,frameshift_variant,p.Arg716LeufsTer15,ENST00000375224,;UBR4,frameshift_variant,p.Arg84LeufsTer15,ENST00000375225,;UBR4,upstream_gene_variant,,ENST00000486515,;UBR4,upstream_gene_variant,,ENST00000459947,;	-	ENST00000375254	Transcript	frameshift_variant	15052-15074/15906	15024-15046/15552	5008-5016/5183	SREEKNLQG/SX	tcCCGAGAAGAGAAGAACCTCCAAGgc/tcgc		1		-1	UBR4	HGNC	HGNC:30313	protein_coding	YES	CCDS189.1	ENSP00000364403	Q5T4S7		UPI000021276F	NM_020765.2			103/106		hmmpanther:PTHR21725,Pfam_domain:PF13764																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	15	19081536	19081536	CTTGGAGGTTCTTCTCTTCTCGG	-	1	0	1	0	1	0	0	0	0	17428	681	24	0		0	UBR4	1	19081536	Frame_Shift_Del	DEL	CTTGGAGGTTCTTCTCTTCTCGG	C3L-00368_TP	16293922	19081536	229874886	2	6789											
UBR4	0	.	GRCh38	chr1	19187445	19187445	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggataacctcctcaccttgTgaagggcctccacttgtagg	8	10	11	12	0	1	1	1	1	0	0	3	2	3	2	5	3	1	1	5	3	3	4	novel		C3L-00368_TP	C3L-00368_NB	T	T																c.1490A>C	p.His497Pro	p.H497P	ENST00000375254	12/106	134	118	16	111	111	0	strelka-varscan-mutect	UBR4,missense_variant,p.His497Pro,ENST00000375254,NM_020765.2;	G	ENST00000375254	Transcript	missense_variant	1518/15906	1490/15552	497/5183	H/P	cAc/cCc		1		-1	UBR4	HGNC	HGNC:30313	protein_coding	YES	CCDS189.1	ENSP00000364403	Q5T4S7		UPI000021276F	NM_020765.2	tolerated(0.37)		12/106		hmmpanther:PTHR21725																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	15	19187445	19187445	T	G	1	0	0	0	0	1	0	0	0	17428	1710	59	5		5	UBR4	1	19187445	Missense_Mutation	SNP	T	C3L-00368_TP	105909	19187445	229768977	3	6790											
TBX15	0	.	GRCh38	chr1	118885051	118885051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgctgcatgtggctgcccCcgaacatgtgtggtgatgag	6	11	14	10	1	1	2	0	2	1	0	1	3	1	2	2	2	4	3	2	2	1	0	rs754594223		C3L-00368_TP	C3L-00368_NB	C	C																c.1172G>T	p.Gly391Val	p.G391V	ENST00000207157	8/8	673	549	124	636	635	1	strelka-varscan-mutect	TBX15,missense_variant,p.Gly497Val,ENST00000369429,;TBX15,missense_variant,p.Gly391Val,ENST00000207157,NM_152380.2;TBX15,missense_variant,p.Gly225Val,ENST00000449873,;	A	ENST00000207157	Transcript	missense_variant	1487/3492	1172/1491	391/496	G/V	gGg/gTg	rs754594223,COSM5234102,COSM5234103,COSM527887	1		-1	TBX15	HGNC	HGNC:11594	protein_coding	YES	CCDS30816.1	ENSP00000207157	Q96SF7		UPI000046D38E	NM_152380.2	tolerated(0.11)		8/8		hmmpanther:PTHR11267:SF98,hmmpanther:PTHR11267											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs754594223	.												A	3	1	15	118885051	118885051	C	A	1	0	0	0	0	1	0	0	0	16057	623	22	2		2	TBX15	1	118885051	Missense_Mutation	SNP	C	C3L-00368_TP	99697606	118885051	130071371	4	6791											
SELP	0	.	GRCh38	chr1	169609557	169609557	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagttatcacaccgaactAtatcggctcctctcagcatg	11	10	6	14	2	2	0	2	0	1	0	5	1	3	0	3	1	2	3	3	1	5	3	novel		C3L-00368_TP	C3L-00368_NB	A	A																c.1280T>C	p.Ile427Thr	p.I427T	ENST00000263686	8/17	202	177	25	143	143	0	strelka-varscan-mutect	SELP,missense_variant,p.Ile427Thr,ENST00000263686,NM_003005.3;SELP,missense_variant,p.Ile426Thr,ENST00000426706,;SELP,missense_variant,p.Ile365Thr,ENST00000367788,;SELP,missense_variant,p.Ile365Thr,ENST00000367786,;SELP,missense_variant,p.Ile365Thr,ENST00000458599,;SELP,intron_variant,,ENST00000367795,;	G	ENST00000263686	Transcript	missense_variant	1318/3142	1280/2493	427/830	I/T	aTa/aCa		1		-1	SELP	HGNC	HGNC:10721	protein_coding	YES	CCDS1282.1	ENSP00000263686	P16109	A0A024R8Y9	UPI0000204D4A	NM_003005.3	tolerated(0.72)		8/17		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF19,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	15	169609557	169609557	A	G	1	0	0	0	0	1	0	0	0	14296	449	16	5		5	SELP	1	169609557	Missense_Mutation	SNP	A	C3L-00368_TP	50724506	169609557	79346865	5	6792											
EDARADD	0	.	GRCh38	chr1	236482358	236482358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgacttgctcaatgatcaGgacttactagacgtgatcag	12	11	10	8	1	3	4	3	3	0	1	3	5	3	5	0	1	2	1	0	1	3	3	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.357G>T	p.Gln119His	p.Q119H	ENST00000334232	6/6	220	119	101	169	169	0	strelka-varscan-mutect	EDARADD,missense_variant,p.Gln109His,ENST00000359362,NM_080738.3;EDARADD,missense_variant,p.Gln97His,ENST00000637660,;EDARADD,missense_variant,p.Gln119His,ENST00000334232,NM_145861.2;EDARADD,downstream_gene_variant,,ENST00000439430,;ENO1P1,upstream_gene_variant,,ENST00000366587,;	T	ENST00000334232	Transcript	missense_variant	524/858	357/648	119/215	Q/H	caG/caT		1		1	EDARADD	HGNC	HGNC:14341	protein_coding	YES	CCDS1610.1	ENSP00000335076	Q8WWZ3		UPI0000456324	NM_145861.2	deleterious(0)		6/6		hmmpanther:PTHR28469,hmmpanther:PTHR28469:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	15	236482358	236482358	G	T	1	0	0	0	0	1	0	0	0	4734	991	35	2		2	EDARADD	1	236482358	Missense_Mutation	SNP	G	C3L-00368_TP	66872801	236482358	12474064	6	6793											
NBAS	0	.	GRCh38	chr2	15309219	15309219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggtcatgtcatttggCaaggcttcacttgctagttg	8	13	11	9	0	3	0	3	0	0	0	3	0	3	0	1	3	1	4	1	3	3	5	novel		C3L-00368_TP	C3L-00368_NB	C	C																c.4611G>T	p.Leu1537Phe	p.L1537F	ENST00000281513	39/52	423	336	87	432	431	1	strelka-varscan-mutect	NBAS,missense_variant,p.Leu1537Phe,ENST00000281513,NM_015909.3;NBAS,missense_variant,p.Leu585Phe,ENST00000442506,;	A	ENST00000281513	Transcript	missense_variant	4637/7281	4611/7116	1537/2371	L/F	ttG/ttT		1		-1	NBAS	HGNC	HGNC:15625	protein_coding	YES	CCDS1685.1	ENSP00000281513	A2RRP1		UPI00001AEA68	NM_015909.3	tolerated(0.46)		39/52		hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	15	15309219	15309219	C	A	1	0	0	0	0	1	0	0	0	10197	709	25	2		2	NBAS	2	15309219	Missense_Mutation	SNP	C	C3L-00368_TP		15309219	226884310	7	6794											
EHD3	0	.	GRCh38	chr2	31266258	31266258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggacgacatgctggccCatgacattgcccagctcatg	9	9	11	12	1	1	1	1	1	0	0	1	3	1	2	2	2	3	2	2	2	1	2	novel		C3L-00368_TP	C3L-00368_NB	C	C																c.1162C>A	p.His388Asn	p.H388N	ENST00000322054	6/6	136	116	20	151	151	0	strelka-varscan-mutect	EHD3,missense_variant,p.His388Asn,ENST00000322054,NM_014600.2;	A	ENST00000322054	Transcript	missense_variant	1447/4636	1162/1608	388/535	H/N	Cat/Aat		1		1	EHD3	HGNC	HGNC:3244	protein_coding	YES	CCDS1774.1	ENSP00000327116	Q9NZN3		UPI0000140D07	NM_014600.2	tolerated(1)		6/6		hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF67																	MODERATE	1	SNV	1			1										PASS		rs1393335932	.												A	3	1	15	31266258	31266258	C	A	1	0	0	0	0	1	0	0	0	4815	594	21	2		2	EHD3	2	31266258	Missense_Mutation	SNP	C	C3L-00368_TP	15957039	31266258	210927271	8	6795											
ARHGAP25	0	.	GRCh38	chr2	68822669	68822669	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataacgtcccttccctgccAgggtcccctggggaggaagc	7	7	13	14	1	0	0	0	0	0	0	3	3	3	2	5	4	3	0	5	4	2	2	novel		C3L-00368_TP	C3L-00368_NB	A	A																c.1530A>T	p.=	p.P510P	ENST00000409202	10/11	203	164	39	199	199	0	strelka-varscan-mutect	ARHGAP25,synonymous_variant,p.=,ENST00000409202,NM_001007231.2;ARHGAP25,synonymous_variant,p.=,ENST00000409220,NM_001166276.1;ARHGAP25,synonymous_variant,p.=,ENST00000409030,NM_014882.2;ARHGAP25,synonymous_variant,p.=,ENST00000467265,NM_001166277.1;ARHGAP25,synonymous_variant,p.=,ENST00000497259,;ARHGAP25,synonymous_variant,p.=,ENST00000479844,;ARHGAP25,downstream_gene_variant,,ENST00000497079,;ARHGAP25,downstream_gene_variant,,ENST00000473986,;	T	ENST00000409202	Transcript	synonymous_variant	1895/2945	1530/1941	510/646	P	ccA/ccT		1		1	ARHGAP25	HGNC	HGNC:28951	protein_coding	YES	CCDS33214.2	ENSP00000386911	P42331		UPI0000251EDD	NM_001007231.2			10/11		hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF20																	LOW	1	SNV	2			1										PASS		rs1160136241	.												T	2	4	15	68822669	68822669	A	T	1	0	0	0	0	0	0	0	1	999	175	7	4		4	ARHGAP25	2	68822669	Silent	SNP	A	C3L-00368_TP	37556411	68822669	173370860	9	6796											
PLA2R1	0	.	GRCh38	chr2	159949680	159949680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccagcgtccgttgctgtCggcaaaaacgcagtcaccaa	11	7	10	13	4	1	0	1	0	0	0	3	0	2	0	3	1	4	4	3	1	3	1	rs751061892		C3L-00368_TP	C3L-00368_NB	C	C																c.3637G>T	p.Asp1213Tyr	p.D1213Y	ENST00000283243	25/30	177	155	22	174	174	0	strelka-varscan-mutect	PLA2R1,missense_variant,p.Asp1213Tyr,ENST00000283243,NM_007366.4,NM_001195641.1;PLA2R1,missense_variant,p.Asp1213Tyr,ENST00000392771,NM_001007267.2;PLA2R1,upstream_gene_variant,,ENST00000460710,;	A	ENST00000283243	Transcript	missense_variant	3844/14371	3637/4392	1213/1463	D/Y	Gac/Tac	rs751061892,COSM5461787	1		-1	PLA2R1	HGNC	HGNC:9042	protein_coding	YES	CCDS33309.1	ENSP00000283243	Q13018		UPI00001AEA9D	NM_007366.4,NM_001195641.1	deleterious(0)		25/30		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_patterns:PS00615,PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF74,SMART_domains:SM00034,Superfamily_domains:SSF56436											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs751061892	.												A	3	1	15	159949680	159949680	C	A	1	0	0	0	0	1	0	0	0	12106	884	31	1		1	PLA2R1	2	159949680	Missense_Mutation	SNP	C	C3L-00368_TP	91127011	159949680	82243849	10	6797											
KCNH7	0	.	GRCh38	chr2	162373590	162373590	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttaccatactgtaggctggGgggaccacagtggtttgttt	7	13	14	7	0	0	0	0	0	0	0	0	1	0	1	2	5	2	5	2	5	3	5	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.3204C>A	p.=	p.P1068P	ENST00000332142	15/16	117	111	6	69	69	0	strelka-mutect	KCNH7,synonymous_variant,p.=,ENST00000332142,NM_033272.3;KCNH7,synonymous_variant,p.=,ENST00000618399,;GCA,downstream_gene_variant,,ENST00000414723,;	T	ENST00000332142	Transcript	synonymous_variant	3304/4113	3204/3591	1068/1196	P	ccC/ccA		1		-1	KCNH7	HGNC	HGNC:18863	protein_coding	YES	CCDS2219.1	ENSP00000331727	Q9NS40		UPI0000167D11	NM_033272.3			15/16		hmmpanther:PTHR10217:SF466,hmmpanther:PTHR10217																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	15	162373590	162373590	G	T	1	0	0	0	0	0	0	0	1	7953	1219	43	2		2	KCNH7	2	162373590	Silent	SNP	G	C3L-00368_TP	2423910	162373590	79819939	11	6798											
ABCB11	0	.	GRCh38	chr2	168935368	168935368	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagtgcttcaatgaaccGcctctcctttccaattccag	9	12	5	15	1	3	1	2	1	1	0	6	1	5	1	5	0	2	1	5	0	4	3	rs766744091		C3L-00368_TP	C3L-00368_NB	G	G																c.2872C>A	p.=	p.R958R	ENST00000263817	23/28	150	126	24	165	165	0	strelka-varscan-mutect	ABCB11,synonymous_variant,p.=,ENST00000263817,NM_003742.2;ABCB11,3_prime_UTR_variant,,ENST00000439188,;	T	ENST00000263817	Transcript	synonymous_variant	2997/4775	2872/3966	958/1321	R	Cgg/Agg	rs766744091,COSM3314679,COSM4305553	1		-1	ABCB11	HGNC	HGNC:42	protein_coding	YES	CCDS46444.1	ENSP00000263817	O95342		UPI0000163BFA	NM_003742.2			23/28		PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF165,hmmpanther:PTHR24221,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs766744091	.												T	2	4	15	168935368	168935368	G	T	1	0	0	0	0	0	0	0	1	46	1086	38	1		1	ABCB11	2	168935368	Silent	SNP	G	C3L-00368_TP	6561778	168935368	73258161	12	6799											
SERPINE2	0	.	GRCh38	chr2	223982746	223982746	+	Missense_Mutation	SNP	G	G	T																															taatgccaagaactttcagcGgctccttcaaatctgtttgt																								rs754076799		C3L-00368_TP	C3L-00368_NB	G	G																c.956C>A	p.Pro319Gln	p.P319Q	ENST00000447280	6/9	161	138	23	198	197	1	strelka-varscan-mutect	SERPINE2,missense_variant,p.Pro307Gln,ENST00000409840,;SERPINE2,missense_variant,p.Pro307Gln,ENST00000258405,NM_006216.3;SERPINE2,missense_variant,p.Pro307Gln,ENST00000409304,NM_001136528.1;SERPINE2,missense_variant,p.Pro319Gln,ENST00000447280,NM_001136530.1;SERPINE2,downstream_gene_variant,,ENST00000432738,;SERPINE2,non_coding_transcript_exon_variant,,ENST00000473202,;SERPINE2,non_coding_transcript_exon_variant,,ENST00000478966,;	T	ENST00000447280	Transcript	missense_variant	1257/1716	956/1230	319/409	P/Q	cCg/cAg	rs754076799	1		-1	SERPINE2	HGNC	HGNC:8951	protein_coding	YES	CCDS46525.1	ENSP00000415786	P07093		UPI00017A7317	NM_001136530.1	deleterious(0)		6/9		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF48,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	2			1										PASS		rs754076799	.												T	3	4	15	223982746	223982746	G	T	1	0	0	0	0	1	0	0	0	14388	1116	39	1		1	SERPINE2	2	223982746	Missense_Mutation	SNP	G	C3L-00368_TP	55047378	223982746	18210783	13	6800	155	2									
SERPINE2	0	.	GRCh38	chr2	223982747	223982747	+	Missense_Mutation	SNP	G	G	T																															aatgccaagaactttcagcgGctccttcaaatctgtttgtg																								novel		C3L-00368_TP	C3L-00368_NB	G	G																c.955C>A	p.Pro319Thr	p.P319T	ENST00000447280	6/9	158	136	22	199	199	0	strelka-varscan-mutect	SERPINE2,missense_variant,p.Pro307Thr,ENST00000409840,;SERPINE2,missense_variant,p.Pro307Thr,ENST00000258405,NM_006216.3;SERPINE2,missense_variant,p.Pro307Thr,ENST00000409304,NM_001136528.1;SERPINE2,missense_variant,p.Pro319Thr,ENST00000447280,NM_001136530.1;SERPINE2,downstream_gene_variant,,ENST00000432738,;SERPINE2,non_coding_transcript_exon_variant,,ENST00000473202,;SERPINE2,non_coding_transcript_exon_variant,,ENST00000478966,;	T	ENST00000447280	Transcript	missense_variant	1256/1716	955/1230	319/409	P/T	Ccg/Acg		1		-1	SERPINE2	HGNC	HGNC:8951	protein_coding	YES	CCDS46525.1	ENSP00000415786	P07093		UPI00017A7317	NM_001136530.1	deleterious(0)		6/9		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF48,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	15	223982747	223982747	G	T	1	0	0	0	0	1	0	0	0	14388	1203	42	2		2	SERPINE2	2	223982747	Missense_Mutation	SNP	G	C3L-00368_TP	1	223982747	18210782	14	6801	155	2									
GIGYF2	0	.	GRCh38	chr2	232839909	232839910	+	Frame_Shift_Ins	INS	-	-	C																															agcatgtcagtcccaggccaINScgctgtcgttggctgaaatc																								novel		C3L-00368_TP	C3L-00368_NB	-	-																c.2891dupC	p.Leu965AlafsTer5	p.L965Afs*5	ENST00000409451	25/31	263	215	48	327	327	0	sindel-varindel-pindel	GIGYF2,frameshift_variant,p.Leu966AlafsTer5,ENST00000629305,;GIGYF2,frameshift_variant,p.Leu944AlafsTer5,ENST00000409547,NM_015575.3;GIGYF2,frameshift_variant,p.Leu966AlafsTer5,ENST00000409480,;GIGYF2,frameshift_variant,p.Leu965AlafsTer5,ENST00000409451,NM_001103147.1;GIGYF2,frameshift_variant,p.Leu944AlafsTer5,ENST00000373563,NM_001103146.1;GIGYF2,frameshift_variant,p.Leu938AlafsTer5,ENST00000409196,NM_001103148.1;GIGYF2,upstream_gene_variant,,ENST00000426102,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000469843,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000474312,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000471011,;	C	ENST00000409451	Transcript	frameshift_variant	3116-3117/5937	2890-2891/3963	964/1320	T/TX	acg/aCcg		1		1	GIGYF2	HGNC	HGNC:11960	protein_coding	YES	CCDS46542.1	ENSP00000387170	Q6Y7W6		UPI00003FEC8F	NM_001103147.1			25/31		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF38																	HIGH	1	insertion	1	1		1										PASS		.	.												C	7	5	15	232839909	232839909	-	C	1	0	1	1	0	0	0	0	0	6258	159	6	0		0	GIGYF2	2	232839909	Frame_Shift_Ins	INS	-	C3L-00368_TP	8857162	232839909	9353620	15	6802											
NUP210	0	.	GRCh38	chr3	13317759	13317759	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcaatgcattgggagaTgtgggtgatgaggcagcgaa	11	7	19	4	1	0	3	0	2	0	1	0	6	0	4	0	5	2	3	0	5	2	1	novel		C3L-00368_TP	C3L-00368_NB	T	T																c.5586A>G	p.=	p.T1862T	ENST00000254508	40/40	128	109	19	172	172	0	strelka-varscan-mutect	NUP210,synonymous_variant,p.=,ENST00000254508,NM_024923.3;	C	ENST00000254508	Transcript	synonymous_variant	5669/7193	5586/5664	1862/1887	T	acA/acG		1		-1	NUP210	HGNC	HGNC:30052	protein_coding	YES	CCDS33704.1	ENSP00000254508	Q8TEM1		UPI00001600AF	NM_024923.3			40/40		hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF2																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	15	13317759	13317759	T	C	1	0	0	0	0	0	0	0	1	10825	1451	51	5		5	NUP210	3	13317759	Silent	SNP	T	C3L-00368_TP		13317759	184977800	16	6803											
COLQ	0	.	GRCh38	chr3	15456566	15456566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcaagctcctcctggttgTtgaccacaaaaatctgccag	10	11	7	13	0	2	1	1	1	2	0	5	1	4	1	4	1	2	3	4	1	3	2	novel		C3L-00368_TP	C3L-00368_NB	T	T																c.968A>G	p.Asn323Ser	p.N323S	ENST00000383788	14/17	416	346	70	424	424	0	strelka-varscan-mutect	COLQ,missense_variant,p.Asn323Ser,ENST00000383788,NM_005677.3;COLQ,missense_variant,p.Asn313Ser,ENST00000383781,NM_080538.2;COLQ,missense_variant,p.Asn323Ser,ENST00000603808,;COLQ,missense_variant,p.Asn289Ser,ENST00000383786,NM_080539.3;EAF1-AS1,upstream_gene_variant,,ENST00000629729,;EAF1-AS1,upstream_gene_variant,,ENST00000608408,;	C	ENST00000383788	Transcript	missense_variant	1094/3005	968/1368	323/455	N/S	aAc/aGc		1		-1	COLQ	HGNC	HGNC:2226	protein_coding	YES	CCDS33709.1	ENSP00000373298	Q9Y215		UPI000013F74C	NM_005677.3	tolerated(0.18)		14/17		hmmpanther:PTHR24023:SF6,hmmpanther:PTHR24023																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	15	15456566	15456566	T	C	1	0	0	0	0	1	0	0	0	3505	1725	60	5		5	COLQ	3	15456566	Missense_Mutation	SNP	T	C3L-00368_TP	2138807	15456566	182838993	17	6804											
MST1R	0	.	GRCh38	chr3	49895814	49895814	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataccaaggagcgtgctctGtgggaccccatctggccctg	7	8	13	13	1	2	0	0	0	2	0	2	3	2	2	4	3	3	1	4	3	2	1	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.2863C>T	p.Gln955Ter	p.Q955*	ENST00000296474	12/20	160	139	21	207	207	0	strelka-varscan-mutect	MST1R,stop_gained,p.Gln955Ter,ENST00000296474,NM_002447.2;MST1R,stop_gained,p.Gln849Ter,ENST00000621387,NM_001318913.1;MST1R,stop_gained,p.Gln906Ter,ENST00000344206,NM_001244937.1;MST1R,stop_gained,p.Gln2Ter,ENST00000434765,;MST1R,intron_variant,,ENST00000613534,;MST1R,intron_variant,,ENST00000612032,;MST1R,intron_variant,,ENST00000440292,;CTD-2330K9.2,upstream_gene_variant,,ENST00000435478,;MST1R,stop_gained,p.Gln955Ter,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000467110,;MST1R,downstream_gene_variant,,ENST00000468525,;MST1R,downstream_gene_variant,,ENST00000485044,;MST1R,downstream_gene_variant,,ENST00000493535,;MST1R,downstream_gene_variant,,ENST00000497001,;MST1R,upstream_gene_variant,,ENST00000463789,;MST1R,upstream_gene_variant,,ENST00000490053,;	A	ENST00000296474	Transcript	stop_gained	2891/4536	2863/4203	955/1400	Q/*	Cag/Tag		1		-1	MST1R	HGNC	HGNC:7381	protein_coding	YES	CCDS2807.1	ENSP00000296474	Q04912		UPI000159688A	NM_002447.2			12/20		PIRSF_domain:PIRSF000617,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF113																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	15	49895814	49895814	G	A	1	0	0	0	0	0	1	0	0	9876	1386	48	3		3	MST1R	3	49895814	Nonsense_Mutation	SNP	G	C3L-00368_TP	34439248	49895814	148399745	18	6805											
CPNE4	0	.	GRCh38	chr3	131587515	131587515	+	Frame_Shift_Del	DEL	T	T	-																															ccattgctcctctcatctccTtgaatgtcgaggtgaattct																								novel		C3L-00368_TP	C3L-00368_NB	T	T																c.803delA	p.Lys268ArgfsTer3	p.K268Rfs*3	ENST00000617767	8/16	137	117	20	155	155	0	sindel-varindel-pindel	CPNE4,frameshift_variant,p.Lys250ArgfsTer3,ENST00000512055,;CPNE4,frameshift_variant,p.Lys250ArgfsTer3,ENST00000429747,NM_130808.2;CPNE4,frameshift_variant,p.Lys268ArgfsTer3,ENST00000617767,NM_001289112.1;CPNE4,frameshift_variant,p.Lys250ArgfsTer3,ENST00000511604,;CPNE4,frameshift_variant,p.Lys268ArgfsTer3,ENST00000512332,NM_153429.1;CPNE4,frameshift_variant,p.Lys268ArgfsTer3,ENST00000502818,;CPNE4,non_coding_transcript_exon_variant,,ENST00000515418,;	-	ENST00000617767	Transcript	frameshift_variant	998/3556	803/1728	268/575	K/X	aAg/ag		1		-1	CPNE4	HGNC	HGNC:2317	protein_coding	YES	CCDS75010.1	ENSP00000478878	Q96A23		UPI000002A6F1	NM_001289112.1			8/16		hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF4,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	15	131587515	131587515	T	-	1	0	1	0	1	0	0	0	0	3609	1609	56	0		0	CPNE4	3	131587515	Frame_Shift_Del	DEL	T	C3L-00368_TP	81691701	131587515	66708044	19	6806											
DNAJC13	0	.	GRCh38	chr3	132492580	132492580	+	Missense_Mutation	SNP	A	A	C																															acctcaaacaactgtgtgatAcactccggtttccagattgg																								novel		C3L-00368_TP	C3L-00368_NB	A	A																c.3790A>C	p.Thr1264Pro	p.T1264P	ENST00000260818	33/56	192	165	27	210	210	0	strelka-mutect	DNAJC13,missense_variant,p.Thr1264Pro,ENST00000260818,NM_015268.3;DNAJC13,downstream_gene_variant,,ENST00000506813,;	C	ENST00000260818	Transcript	missense_variant	4038/7730	3790/6732	1264/2243	T/P	Aca/Cca		1		1	DNAJC13	HGNC	HGNC:30343	protein_coding	YES	CCDS33857.1	ENSP00000260818	O75165		UPI000022C1FD	NM_015268.3	tolerated(0.08)		33/56																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	15	132492580	132492580	A	C	1	0	0	0	0	1	0	0	0	4446	391	14	5		5	DNAJC13	3	132492580	Missense_Mutation	SNP	A	C3L-00368_TP	905065	132492580	65802979	20	6807	156	2									
DNAJC13	0	.	GRCh38	chr3	132492583	132492586	+	Frame_Shift_Del	DEL	CTCC	CTCC	-																															tcaaacaactgtgtgatacaCtccggtttccagattggcca																								novel		C3L-00368_TP	C3L-00368_NB	CTCC	CTCC																c.3793_3796delCTCC	p.Leu1265GlyfsTer14	p.L1265Gfs*14	ENST00000260818	33/56	170	148	22	217	217	0	sindel-varindel	DNAJC13,frameshift_variant,p.Leu1265GlyfsTer14,ENST00000260818,NM_015268.3;DNAJC13,downstream_gene_variant,,ENST00000506813,;	-	ENST00000260818	Transcript	frameshift_variant	4041-4044/7730	3793-3796/6732	1265-1266/2243	LR/X	CTCCgg/gg		1		1	DNAJC13	HGNC	HGNC:30343	protein_coding	YES	CCDS33857.1	ENSP00000260818	O75165		UPI000022C1FD	NM_015268.3			33/56																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	15	132492583	132492583	CTCC	-	1	0	1	0	1	0	0	0	0	4446	565	20	0		0	DNAJC13	3	132492583	Frame_Shift_Del	DEL	CTCC	C3L-00368_TP	3	132492583	65802976	21	6808	156	2									
GRK7	0	.	GRCh38	chr3	141780775	141780775	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctgacctggggctggcCgtggagatgaagggtggcaa	8	9	17	7	1	1	3	0	2	1	1	1	4	1	3	2	6	0	2	2	6	3	1	rs149043656		C3L-00368_TP	C3L-00368_NB	C	C																c.1014C>A	p.=	p.A338A	ENST00000264952	2/4	157	130	27	167	167	0	strelka-varscan-mutect	GRK7,synonymous_variant,p.=,ENST00000264952,NM_139209.2;	A	ENST00000264952	Transcript	synonymous_variant	1151/3239	1014/1662	338/553	A	gcC/gcA	rs149043656	1		1	GRK7	HGNC	HGNC:17031	protein_coding	YES	CCDS3120.1	ENSP00000264952	Q8WTQ7		UPI000004244D	NM_139209.2			2/4		PROSITE_profiles:PS50011,hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF12,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		rs149043656	.												A	2	1	15	141780775	141780775	C	A	1	0	0	0	0	0	0	0	1	6677	639	23	1		1	GRK7	3	141780775	Silent	SNP	C	C3L-00368_TP	9288192	141780775	56514784	22	6809											
U2SURP	0	.	GRCh38	chr3	143024002	143024002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcaagccatagtcaaagtgGttatcccaacagaaaggtac	15	7	9	10	1	1	1	1	0	0	1	2	1	2	1	2	2	3	3	2	2	7	3	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.1258G>A	p.Val420Ile	p.V420I	ENST00000473835	13/28	142	127	15	185	185	0	strelka-varscan-mutect	U2SURP,missense_variant,p.Val420Ile,ENST00000473835,NM_001320219.1,NM_001080415.1;U2SURP,missense_variant,p.Val419Ile,ENST00000493598,;U2SURP,missense_variant,p.Val422Ile,ENST00000463563,;U2SURP,intron_variant,,ENST00000488497,;U2SURP,intron_variant,,ENST00000488587,;U2SURP,upstream_gene_variant,,ENST00000480029,;U2SURP,downstream_gene_variant,,ENST00000461591,;U2SURP,upstream_gene_variant,,ENST00000472373,;U2SURP,downstream_gene_variant,,ENST00000470400,;	A	ENST00000473835	Transcript	missense_variant	1348/7276	1258/3090	420/1029	V/I	Gtt/Att		1		1	U2SURP	HGNC	HGNC:30855	protein_coding	YES	CCDS46928.1	ENSP00000418563	O15042		UPI0000160746	NM_001320219.1,NM_001080415.1	deleterious(0.03)		13/28		hmmpanther:PTHR23140:SF1,hmmpanther:PTHR23140,Superfamily_domains:SSF109905																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	15	143024002	143024002	G	A	1	0	0	0	0	1	0	0	0	17341	1261	44	3		3	U2SURP	3	143024002	Missense_Mutation	SNP	G	C3L-00368_TP	1243227	143024002	55271557	23	6810											
MUC20	0	.	GRCh38	chr3	195725204	195725204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcagcgcctcttccgacGgcccccatccagtcatcacc	8	6	8	19	3	3	1	2	0	1	1	5	2	5	1	6	1	2	1	6	1	0	1	rs199756467		C3L-00368_TP	C3L-00368_NB	G	G																c.601G>A	p.Gly201Ser	p.G201S	ENST00000447234	2/4	69	64	5	65	65	0	varscan-mutect	MUC20,missense_variant,p.Gly166Ser,ENST00000445522,;MUC20,missense_variant,p.Gly201Ser,ENST00000447234,NM_001282506.1;MUC20,missense_variant,p.Gly201Ser,ENST00000436408,;MUC20,intron_variant,,ENST00000320736,;MUC20,upstream_gene_variant,,ENST00000423938,;LINC00969,intron_variant,,ENST00000600197,;LINC00969,intron_variant,,ENST00000628392,;LINC00969,intron_variant,,ENST00000629721,;LINC00969,intron_variant,,ENST00000594446,;LINC00969,intron_variant,,ENST00000627297,;LINC00969,intron_variant,,ENST00000595086,;LINC00969,intron_variant,,ENST00000631359,;LINC00969,intron_variant,,ENST00000628125,;LINC00969,intron_variant,,ENST00000629537,;LINC00969,intron_variant,,ENST00000627993,;LINC00969,intron_variant,,ENST00000597662,;LINC00969,intron_variant,,ENST00000628982,;LINC00969,intron_variant,,ENST00000629807,;LINC00969,intron_variant,,ENST00000627035,;LINC00969,intron_variant,,ENST00000626093,;LINC00969,downstream_gene_variant,,ENST00000627609,;LINC00969,downstream_gene_variant,,ENST00000627471,;LINC00969,downstream_gene_variant,,ENST00000630197,;LINC00969,downstream_gene_variant,,ENST00000455807,;LINC00969,downstream_gene_variant,,ENST00000594976,;LINC00969,downstream_gene_variant,,ENST00000630874,;LINC00969,downstream_gene_variant,,ENST00000600288,;LINC00969,downstream_gene_variant,,ENST00000599566,;LINC00969,downstream_gene_variant,,ENST00000626979,;LINC00969,downstream_gene_variant,,ENST00000626872,;LINC00969,downstream_gene_variant,,ENST00000625383,;LINC00969,downstream_gene_variant,,ENST00000612098,;LINC00969,downstream_gene_variant,,ENST00000626566,;LINC00969,downstream_gene_variant,,ENST00000626852,;LINC00969,downstream_gene_variant,,ENST00000432194,;LINC00969,downstream_gene_variant,,ENST00000625665,;LINC00969,downstream_gene_variant,,ENST00000625531,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,downstream_gene_variant,,ENST00000480350,;MUC20,upstream_gene_variant,,ENST00000498018,;	A	ENST00000447234	Transcript	missense_variant	727/2589	601/2130	201/709	G/S	Ggc/Agc	rs199756467,COSM3683032	1		1	MUC20	HGNC	HGNC:23282	protein_coding	YES	CCDS63877.1	ENSP00000414350	Q8N307		UPI000198CC5A	NM_001282506.1	tolerated_low_confidence(0.65)		2/4													0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs199756467	.												A	3	1	15	195725204	195725204	G	A	1	0	0	0	0	1	0	0	0	9974	1116	39	1		1	MUC20	3	195725204	Missense_Mutation	SNP	G	C3L-00368_TP	52701202	195725204	2570355	24	6811											
GPR78	0	.	GRCh38	chr4	8581505	8581505	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgcagccttcaccgccAcgctccatgccgtgggcttc	4	9	10	18	4	1	0	1	0	0	0	4	0	2	0	5	1	2	4	5	1	0	3	novel		C3L-00368_TP	C3L-00368_NB	A	A																c.523A>C	p.Thr175Pro	p.T175P	ENST00000382487	1/3	136	107	29	144	144	0	strelka-varscan-mutect	GPR78,missense_variant,p.Thr175Pro,ENST00000382487,NM_080819.4;GPR78,intron_variant,,ENST00000509216,;GPR78,upstream_gene_variant,,ENST00000504255,;GPR78,downstream_gene_variant,,ENST00000503448,;GPR78,downstream_gene_variant,,ENST00000503981,;GPR78,missense_variant,p.Thr175Pro,ENST00000514302,;	C	ENST00000382487	Transcript	missense_variant	940/1694	523/1092	175/363	T/P	Acg/Ccg		1		1	GPR78	HGNC	HGNC:4528	protein_coding	YES	CCDS3403.1	ENSP00000371927	Q96P69	B2R7M4	UPI0000037A5F	NM_080819.4	tolerated(0.09)		1/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs907348878	.												C	3	2	15	8581505	8581505	A	C	1	0	0	0	0	1	0	0	0	6592	159	6	5		5	GPR78	4	8581505	Missense_Mutation	SNP	A	C3L-00368_TP		8581505	181633050	25	6812											
UGT8	0	.	GRCh38	chr4	114622963	114622963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatcatcatcgtgccgcCaattatgtttgaaagccata	14	11	6	10	2	2	1	2	1	0	0	3	1	2	1	3	0	2	1	3	0	6	3	novel		C3L-00368_TP	C3L-00368_NB	C	C																c.83C>T	p.Pro28Leu	p.P28L	ENST00000310836	2/6	167	133	34	176	176	0	strelka-varscan-mutect	UGT8,missense_variant,p.Pro28Leu,ENST00000310836,NM_001128174.1;UGT8,missense_variant,p.Pro28Leu,ENST00000394511,NM_003360.3;UGT8,missense_variant,p.Pro28Leu,ENST00000507710,;	T	ENST00000310836	Transcript	missense_variant	605/4084	83/1626	28/541	P/L	cCa/cTa		1		1	UGT8	HGNC	HGNC:12555	protein_coding	YES	CCDS3705.1	ENSP00000311648	Q16880		UPI000013F094	NM_001128174.1	deleterious(0)		2/6		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF313,Low_complexity_(Seg):seg,Superfamily_domains:SSF53756,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	15	114622963	114622963	C	T	1	0	0	0	0	1	0	0	0	17489	594	21	3		3	UGT8	4	114622963	Missense_Mutation	SNP	C	C3L-00368_TP	106041458	114622963	75591592	26	6813											
ADAD1	0	.	GRCh38	chr4	122429680	122429680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgaaatcctacttacaaCaacatggctatggatcctgg	13	11	8	9	0	0	1	0	1	0	0	2	2	2	2	2	3	4	2	2	3	6	4	rs55924141		C3L-00368_TP	C3L-00368_NB	C	C																c.1672C>A	p.Gln558Lys	p.Q558K	ENST00000296513	13/13	123	101	22	157	157	0	strelka-varscan-mutect	ADAD1,missense_variant,p.Gln558Lys,ENST00000296513,NM_139243.3;ADAD1,missense_variant,p.Gln540Lys,ENST00000388725,NM_001159295.1;ADAD1,missense_variant,p.Gln547Lys,ENST00000388724,NM_001159285.1;	A	ENST00000296513	Transcript	missense_variant	1857/1961	1672/1731	558/576	Q/K	Caa/Aaa	rs55924141	1		1	ADAD1	HGNC	HGNC:30713	protein_coding	YES	CCDS34058.1	ENSP00000296513	Q96M93		UPI000006DF76	NM_139243.3	deleterious(0.01)		13/13		Pfam_domain:PF02137,PROSITE_profiles:PS50141,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF103,SMART_domains:SM00552																	MODERATE	1	SNV	2			1										PASS		rs55924141	.												A	3	1	15	122429680	122429680	C	A	1	0	0	0	0	1	0	0	0	275	479	17	2		2	ADAD1	4	122429680	Missense_Mutation	SNP	C	C3L-00368_TP	7806717	122429680	67784875	27	6814											
ZDHHC11	0	.	GRCh38	chr5	848654	848654	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaacgagaagatcccccCggtcacctggcatgtcaagg	10	6	13	12	2	2	2	2	0	0	2	3	4	3	3	4	4	1	1	4	4	3	0	rs752092268		C3L-00368_TP	C3L-00368_NB	C	C																c.229G>C	p.Gly77Arg	p.G77R	ENST00000283441	2/13	43	38	5	42	42	0	varscan-mutect	ZDHHC11,missense_variant,p.Gly77Arg,ENST00000283441,NM_024786.2;ZDHHC11,intron_variant,,ENST00000511193,;ZDHHC11,upstream_gene_variant,,ENST00000511539,;ZDHHC11,non_coding_transcript_exon_variant,,ENST00000512775,;ZDHHC11,intron_variant,,ENST00000508951,;ZDHHC11,upstream_gene_variant,,ENST00000507800,;BRD9,downstream_gene_variant,,ENST00000493082,;ZDHHC11,upstream_gene_variant,,ENST00000503880,;ZDHHC11,upstream_gene_variant,,ENST00000505815,;ZDHHC11,upstream_gene_variant,,ENST00000512190,;	G	ENST00000283441	Transcript	missense_variant	613/2604	229/1239	77/412	G/R	Ggg/Cgg	rs752092268	1		-1	ZDHHC11	HGNC	HGNC:19158	protein_coding	YES	CCDS3857.1	ENSP00000283441	Q9H8X9		UPI000013C384	NM_024786.2	deleterious(0)		2/13		hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF83,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs752092268	.												G	3	3	15	848654	848654	C	G	1	0	0	0	0	1	0	0	0	18176	652	23	4		4	ZDHHC11	5	848654	Missense_Mutation	SNP	C	C3L-00368_TP		848654	180689605	28	6815											
SRD5A1	0	.	GRCh38	chr5	6656098	6656098	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttttggcttgtggttaacgGgcatgttgataaacatccat	9	15	11	6	1	0	1	0	1	0	0	1	1	1	1	1	3	2	5	1	3	3	6	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.481G>T	p.Gly161Cys	p.G161C	ENST00000274192	3/5	269	195	74	251	251	0	strelka-varscan-mutect	SRD5A1,missense_variant,p.Gly161Cys,ENST00000274192,NM_001047.2;SRD5A1,downstream_gene_variant,,ENST00000504286,;SRD5A1,missense_variant,p.Gly105Val,ENST00000513117,;SRD5A1,3_prime_UTR_variant,,ENST00000510531,;	T	ENST00000274192	Transcript	missense_variant	715/7132	481/780	161/259	G/C	Ggc/Tgc		1		1	SRD5A1	HGNC	HGNC:11284	protein_coding	YES	CCDS3870.1	ENSP00000274192	P18405		UPI00000534C8	NM_001047.2	deleterious(0)		3/5		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50244,hmmpanther:PTHR10556:SF41,hmmpanther:PTHR10556,Pfam_domain:PF02544,PIRSF_domain:PIRSF015596																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	15	6656098	6656098	G	T	1	0	0	0	0	1	0	0	0	15495	1232	43	2		2	SRD5A1	5	6656098	Missense_Mutation	SNP	G	C3L-00368_TP	5807444	6656098	174882161	29	6816											
MTRR	0	.	GRCh38	chr5	7889116	7889116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catttttgcgagcccttgtgGactataccagtgacagtgct	8	13	10	10	1	0	1	0	1	0	0	0	3	0	2	2	1	4	1	2	1	2	5	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.1249G>T	p.Asp417Tyr	p.D417Y	ENST00000264668	9/15	494	322	172	392	392	0	strelka-varscan-mutect	MTRR,missense_variant,p.Asp417Tyr,ENST00000264668,NM_024010.2;MTRR,missense_variant,p.Asp390Tyr,ENST00000440940,NM_002454.2;MTRR,non_coding_transcript_exon_variant,,ENST00000508101,;MTRR,non_coding_transcript_exon_variant,,ENST00000509961,;MTRR,upstream_gene_variant,,ENST00000507414,;MTRR,missense_variant,p.Gly369Val,ENST00000510525,;MTRR,3_prime_UTR_variant,,ENST00000511461,;MTRR,3_prime_UTR_variant,,ENST00000513439,;MTRR,non_coding_transcript_exon_variant,,ENST00000512311,;MTRR,upstream_gene_variant,,ENST00000507202,;	T	ENST00000264668	Transcript	missense_variant	1279/3274	1249/2178	417/725	D/Y	Gac/Tac		1		1	MTRR	HGNC	HGNC:7473	protein_coding	YES	CCDS3874.1	ENSP00000264668	Q9UBK8		UPI000013D550	NM_024010.2	deleterious(0)		9/15		Gene3D:1.20.990.10,Pfam_domain:PF00667,PROSITE_profiles:PS51384,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF84,Superfamily_domains:SSF63380																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	15	7889116	7889116	G	T	1	0	0	0	0	1	0	0	0	9958	1174	41	2		2	MTRR	5	7889116	Missense_Mutation	SNP	G	C3L-00368_TP	1233018	7889116	173649143	30	6817											
SEMA5A	0	.	GRCh38	chr5	9224835	9224835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aattgtgctggggactgtagGgacagcgggccatgccactg	8	8	16	9	1	0	0	0	0	0	0	0	2	0	2	2	4	3	2	2	4	2	2	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.485C>T	p.Pro162Leu	p.P162L	ENST00000382496	8/23	168	158	10	176	176	0	strelka-varscan-mutect	SEMA5A,missense_variant,p.Pro162Leu,ENST00000382496,NM_003966.2;SEMA5A,missense_variant,p.Pro162Leu,ENST00000513968,;SEMA5A,non_coding_transcript_exon_variant,,ENST00000514923,;	A	ENST00000382496	Transcript	missense_variant	1151/11762	485/3225	162/1074	P/L	cCc/cTc		1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2	deleterious(0)		8/23		PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF78,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	15	9224835	9224835	G	A	1	0	0	0	0	1	0	0	0	14313	1232	43	3		3	SEMA5A	5	9224835	Missense_Mutation	SNP	G	C3L-00368_TP	1335719	9224835	172313424	31	6818											
CDH9	0	.	GRCh38	chr5	26915684	26915684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taagtcttttgtaaattttgGctcattgtcattgatatcat	10	20	6	5	0	4	1	3	1	1	0	4	1	4	1	0	1	0	2	0	1	4	9	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.469C>T	p.Pro157Ser	p.P157S	ENST00000231021	3/12	180	135	45	207	207	0	strelka-varscan-mutect	CDH9,missense_variant,p.Pro157Ser,ENST00000231021,NM_016279.3;CDH9,downstream_gene_variant,,ENST00000513289,;CDH9,downstream_gene_variant,,ENST00000511822,;CDH9,non_coding_transcript_exon_variant,,ENST00000505045,;	A	ENST00000231021	Transcript	missense_variant	642/3079	469/2370	157/789	P/S	Cca/Tca		1		-1	CDH9	HGNC	HGNC:1768	protein_coding	YES	CCDS3893.1	ENSP00000231021	Q9ULB4		UPI000013C945	NM_016279.3	deleterious(0)		3/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF99,hmmpanther:PTHR24027,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	15	26915684	26915684	G	A	1	0	0	0	0	1	0	0	0	2820	1203	42	3		3	CDH9	5	26915684	Missense_Mutation	SNP	G	C3L-00368_TP	17690849	26915684	154622575	32	6819											
C6	0	.	GRCh38	chr5	41172228	41172228	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagagtactgttaccttCatgtttctctgacagcttgt	9	15	9	8	0	2	3	1	1	1	2	3	4	2	3	1	0	3	4	1	0	2	5	rs369653180		C3L-00368_TP	C3L-00368_NB	C	C																c.1288G>T	p.Glu430Ter	p.E430*	ENST00000263413	9/18	419	349	70	442	441	1	strelka-varscan-mutect	C6,stop_gained,p.Glu430Ter,ENST00000263413,NM_001115131.2;C6,stop_gained,p.Glu430Ter,ENST00000337836,NM_000065.3;C6,non_coding_transcript_exon_variant,,ENST00000475349,;C6,non_coding_transcript_exon_variant,,ENST00000473450,;	A	ENST00000263413	Transcript	stop_gained	1553/3661	1288/2805	430/934	E/*	Gaa/Taa	rs369653180	1		-1	C6	HGNC	HGNC:1339	protein_coding	YES	CCDS3936.1	ENSP00000263413	P13671		UPI000013D401	NM_001115131.2			9/18		PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,Pfam_domain:PF01823,SMART_domains:SM00457																	HIGH	1	SNV	1			1										PASS		rs369653180	.												A	4	1	15	41172228	41172228	C	A	1	0	0	0	0	0	1	0	0	2111	840	29	2		2	C6	5	41172228	Nonsense_Mutation	SNP	C	C3L-00368_TP	14256544	41172228	140366031	33	6820											
MSH3	0	.	GRCh38	chr5	80679007	80679007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagctagaaacccggatGtcaagcctgcagccagtaga	13	6	11	11	1	2	3	2	0	0	3	2	4	2	4	3	1	5	3	3	1	4	2	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.1254G>T	p.Met418Ile	p.M418I	ENST00000265081	8/24	463	384	79	408	408	0	strelka-varscan-mutect	MSH3,missense_variant,p.Met418Ile,ENST00000265081,NM_002439.4;	T	ENST00000265081	Transcript	missense_variant	1334/4092	1254/3414	418/1137	M/I	atG/atT		1		1	MSH3	HGNC	HGNC:7326	protein_coding	YES	CCDS34195.1	ENSP00000265081	P20585		UPI0000DBEE85	NM_002439.4	tolerated(1)		8/24		hmmpanther:PTHR11361:SF34,hmmpanther:PTHR11361,Pfam_domain:PF05188,Gene3D:3.30.420.110,Superfamily_domains:SSF53150																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	15	80679007	80679007	G	T	1	0	0	0	0	1	0	0	0	9854	1377	48	2		2	MSH3	5	80679007	Missense_Mutation	SNP	G	C3L-00368_TP	39506779	80679007	100859252	34	6821											
SLC12A2	0	.	GRCh38	chr5	128084245	128084245	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgggccgctgctgcggcGgcggcggcggcggcggcagc	1	2	24	14	9	0	0	0	0	0	0	0	0	0	0	1	9	3	3	1	9	0	0	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.291G>T	p.=	p.A97A	ENST00000262461	1/27	42	36	6	28	28	0	varscan-mutect	SLC12A2,synonymous_variant,p.=,ENST00000262461,NM_001046.2;SLC12A2,synonymous_variant,p.=,ENST00000343225,NM_001256461.1;SLC12A2,synonymous_variant,p.=,ENST00000628403,;LINC01184,upstream_gene_variant,,ENST00000501702,;LINC01184,upstream_gene_variant,,ENST00000501652,;LINC01184,upstream_gene_variant,,ENST00000499346,;LINC01184,upstream_gene_variant,,ENST00000508878,;LINC01184,upstream_gene_variant,,ENST00000501173,;LINC01184,upstream_gene_variant,,ENST00000514573,;LINC01184,upstream_gene_variant,,ENST00000606251,;LINC01184,upstream_gene_variant,,ENST00000514409,;LINC01184,upstream_gene_variant,,ENST00000508353,;SLC12A2,synonymous_variant,p.=,ENST00000509205,;	T	ENST00000262461	Transcript	synonymous_variant	480/6885	291/3639	97/1212	A	gcG/gcT		1		1	SLC12A2	HGNC	HGNC:10911	protein_coding	YES	CCDS4144.1	ENSP00000262461	P55011	Q53ZR1	UPI000013541A	NM_001046.2			1/27		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs960187764	.												T	2	4	15	128084245	128084245	G	T	1	0	0	0	0	0	0	0	1	14648	1103	39	1		1	SLC12A2	5	128084245	Silent	SNP	G	C3L-00368_TP	47405238	128084245	53454014	35	6822											
ANKHD1	0	.	GRCh38	chr5	140402054	140402054	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgccccagctggggcctcGgagccgcctccgccgggagg	3	4	16	18	5	0	0	0	0	0	0	3	2	2	2	8	5	2	1	8	5	0	0	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.87G>T	p.=	p.S29S	ENST00000532219	1/36	31	21	10	34	34	0	strelka-varscan-mutect	ANKHD1-EIF4EBP3,synonymous_variant,p.=,ENST00000532219,NM_020690.5;ANKHD1,synonymous_variant,p.=,ENST00000360839,NM_017747.2;ANKHD1,synonymous_variant,p.=,ENST00000421134,;ANKHD1,synonymous_variant,p.=,ENST00000394723,NM_024668.3;ANKHD1,synonymous_variant,p.=,ENST00000616482,NM_001197030.1;ANKHD1,synonymous_variant,p.=,ENST00000394722,NM_017978.2;ANKHD1,synonymous_variant,p.=,ENST00000511151,;ANKHD1,5_prime_UTR_variant,,ENST00000297183,;RNU4-14P,upstream_gene_variant,,ENST00000410858,;CTC-329D1.2,upstream_gene_variant,,ENST00000507521,;	T	ENST00000532219	Transcript	synonymous_variant	147/8246	87/7854	29/2617	S	tcG/tcT		1		1	ANKHD1-EIF4EBP3	HGNC	HGNC:33530	protein_coding	YES	CCDS4224.1	ENSP00000432016			UPI0000074448	NM_020690.5			1/36		Low_complexity_(Seg):seg,hmmpanther:PTHR23206:SF5,hmmpanther:PTHR23206																	LOW		SNV	2			1										PASS		.	.												T	2	4	15	140402054	140402054	G	T	1	0	0	0	0	0	0	0	1	730	1103	39	1		1	ANKHD1	5	140402054	Silent	SNP	G	C3L-00368_TP	12317809	140402054	41136205	36	6823											
PCDHB8	0	.	GRCh38	chr5	141178582	141178582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctattttcgggtcctcaCccgcaaacgcagtgatggca	8	10	9	14	3	1	1	1	1	0	0	4	1	3	1	3	2	1	3	3	2	2	3	novel		C3L-00368_TP	C3L-00368_NB	C	C																c.548C>A	p.Thr183Asn	p.T183N	ENST00000239444	1/1	1565	1455	110	1421	1421	0	varscan-mutect	PCDHB8,missense_variant,p.Thr183Asn,ENST00000239444,NM_019120.4;PCDHB16,upstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.3;PCDHB16,upstream_gene_variant,,ENST00000625044,;CH17-140K24.5,upstream_gene_variant,,ENST00000623884,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,downstream_gene_variant,,ENST00000624549,;AC005754.7,upstream_gene_variant,,ENST00000624802,;CH17-140K24.4,intron_variant,,ENST00000623995,;CH17-140K24.5,upstream_gene_variant,,ENST00000623407,;	A	ENST00000239444	Transcript	missense_variant	793/2740	548/2406	183/801	T/N	aCc/aAc		1		1	PCDHB8	HGNC	HGNC:8693	protein_coding	YES	CCDS4250.1	ENSP00000239444	Q9UN66		UPI000192C41A	NM_019120.4	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												A	3	1	15	141178582	141178582	C	A	1	0	0	0	0	1	0	0	0	11635	507	18	2		2	PCDHB8	5	141178582	Missense_Mutation	SNP	C	C3L-00368_TP	776528	141178582	40359677	37	6824											
FABP6	0	.	GRCh38	chr5	160238633	160238633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcggaggcgtgacctatGagcgcgtgagcaagagactg	10	6	15	10	4	0	4	0	3	0	1	1	6	0	5	2	2	2	1	2	2	2	1			C3L-00368_TP	C3L-00368_NB	G	G																c.508G>A	p.Glu170Lys	p.E170K	ENST00000393980	7/7	253	226	27	234	234	0	strelka-varscan-mutect	FABP6,missense_variant,p.Glu170Lys,ENST00000393980,NM_001130958.1,NM_001040442.1;FABP6,missense_variant,p.Glu121Lys,ENST00000402432,NM_001445.2;FABP6,3_prime_UTR_variant,,ENST00000523955,;FABP6,non_coding_transcript_exon_variant,,ENST00000521362,;	A	ENST00000393980	Transcript	missense_variant	654/756	508/534	170/177	E/K	Gag/Aag	COSM4550758,COSM4550759	1		1	FABP6	HGNC	HGNC:3561	protein_coding	YES	CCDS43393.1	ENSP00000377549	P51161		UPI000020C072	NM_001130958.1,NM_001040442.1	tolerated(1)		7/7		Gene3D:2.40.128.20,Pfam_domain:PF14651,Prints_domain:PR00178,hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF69,Superfamily_domains:SSF50814											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1379368786	.												A	3	1	15	160238633	160238633	G	A	1	0	0	0	0	1	0	0	0	5233	1291	45	3		3	FABP6	5	160238633	Missense_Mutation	SNP	G	C3L-00368_TP	19060051	160238633	21299626	38	6825											
CREBRF	0	.	GRCh38	chr5	173090924	173090924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacccagtgcaacagagcCggcccttgttgagccagatt	10	8	10	13	1	1	3	1	1	0	2	1	3	1	3	4	1	5	2	4	1	2	3	rs377679411		C3L-00368_TP	C3L-00368_NB	C	C																c.745C>T	p.Arg249Trp	p.R249W	ENST00000296953	4/9	268	254	14	233	233	0	strelka-varscan	CREBRF,missense_variant,p.Arg249Trp,ENST00000296953,NM_153607.2;CREBRF,missense_variant,p.Arg249Trp,ENST00000522692,NM_001168393.1,NM_001168394.1;CREBRF,missense_variant,p.Arg249Trp,ENST00000520420,;CREBRF,downstream_gene_variant,,ENST00000523161,;CREBRF,non_coding_transcript_exon_variant,,ENST00000520464,;CDC42P5,upstream_gene_variant,,ENST00000518654,;	T	ENST00000296953	Transcript	missense_variant	1064/7778	745/1920	249/639	R/W	Cgg/Tgg	rs377679411	1		1	CREBRF	HGNC	HGNC:24050	protein_coding	YES	CCDS34293.1	ENSP00000296953	Q8IUR6		UPI000049E01D	NM_153607.2	deleterious_low_confidence(0)		4/9		hmmpanther:PTHR21552																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	15	173090924	173090924	C	T	1	0	0	0	0	1	0	0	0	3663	643	23	1		1	CREBRF	5	173090924	Missense_Mutation	SNP	C	C3L-00368_TP	12852291	173090924	8447335	39	6826											
GPLD1	0	.	GRCh38	chr6	24466730	24466730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatggtaaatattagtggaCcaaaatgccatatcatccag	16	10	8	7	0	1	1	1	0	0	1	2	2	2	2	3	2	1	1	3	2	7	4	novel		C3L-00368_TP	C3L-00368_NB	C	C																c.771G>T	p.Trp257Cys	p.W257C	ENST00000230036	10/25	127	120	7	152	152	0	varscan-mutect	GPLD1,missense_variant,p.Trp257Cys,ENST00000230036,NM_001503.3;GPLD1,non_coding_transcript_exon_variant,,ENST00000474784,;	A	ENST00000230036	Transcript	missense_variant	882/3489	771/2523	257/840	W/C	tgG/tgT		1		-1	GPLD1	HGNC	HGNC:4459	protein_coding	YES	CCDS4553.1	ENSP00000230036	P80108		UPI000013C91C	NM_001503.3	deleterious(0)		10/25		hmmpanther:PTHR23221																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	15	24466730	24466730	C	A	1	0	0	0	0	1	0	0	0	6516	508	18	2		2	GPLD1	6	24466730	Missense_Mutation	SNP	C	C3L-00368_TP		24466730	146339249	40	6827											
BTN3A3	0	.	GRCh38	chr6	26452235	26452235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcccccgatcctgacctaGtgcctgatcattccctggag	6	11	9	15	1	1	2	1	2	0	0	4	4	4	3	6	1	1	1	6	1	1	3	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.1579G>T	p.Val527Leu	p.V527L	ENST00000244519	11/11	196	151	45	180	180	0	strelka-varscan-mutect	BTN3A3,missense_variant,p.Val527Leu,ENST00000244519,NM_006994.4;BTN3A3,missense_variant,p.Val478Leu,ENST00000361232,NM_197974.2;BTN3A3,downstream_gene_variant,,ENST00000487272,;BTN3A3,downstream_gene_variant,,ENST00000490254,NM_001242803.1;BTN3A3,non_coding_transcript_exon_variant,,ENST00000480110,;BTN3A3,downstream_gene_variant,,ENST00000483179,;BTN3A3,downstream_gene_variant,,ENST00000477388,;BTN3A3,downstream_gene_variant,,ENST00000497681,;	T	ENST00000244519	Transcript	missense_variant	1822/3002	1579/1755	527/584	V/L	Gtg/Ttg		1		1	BTN3A3	HGNC	HGNC:1140	protein_coding	YES	CCDS4611.1	ENSP00000244519	O00478	A0A024R042	UPI00000480EF	NM_006994.4	tolerated(0.4)		11/11																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	15	26452235	26452235	G	T	1	0	0	0	0	1	0	0	0	1740	1029	36	2		2	BTN3A3	6	26452235	Missense_Mutation	SNP	G	C3L-00368_TP	1985505	26452235	144353744	41	6828											
PPP1R10	0	.	GRCh38	chr6	30609101	30609101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaatatttctggtgaacggGtctgcaggagaatgttcaag	11	11	12	7	1	3	2	1	1	2	1	3	3	3	2	1	3	2	2	1	3	5	3	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.170C>A	p.Thr57Asn	p.T57N	ENST00000376511	4/20	174	140	34	172	172	0	strelka-varscan-mutect	PPP1R10,missense_variant,p.Thr57Asn,ENST00000376511,NM_002714.3;PPP1R10,downstream_gene_variant,,ENST00000484449,;PPP1R10,upstream_gene_variant,,ENST00000461593,;PPP1R10,upstream_gene_variant,,ENST00000476704,;PPP1R10,upstream_gene_variant,,ENST00000496955,;PPP1R10,upstream_gene_variant,,ENST00000468181,;	T	ENST00000376511	Transcript	missense_variant	723/4525	170/2823	57/940	T/N	aCc/aAc		1		-1	PPP1R10	HGNC	HGNC:9284	protein_coding	YES	CCDS4681.1	ENSP00000365694	Q96QC0	Q2L6I0	UPI000000D73C	NM_002714.3	deleterious(0)		4/20		hmmpanther:PTHR12506,hmmpanther:PTHR12506:SF18																	MODERATE	1	SNV	1			1										PASS		rs1473097433	.												T	3	4	15	30609101	30609101	G	T	1	0	0	0	0	1	0	0	0	12462	1261	44	2		2	PPP1R10	6	30609101	Missense_Mutation	SNP	G	C3L-00368_TP	4156866	30609101	140196878	42	6829											
NOTCH4	0	.	GRCh38	chr6	32220569	32220569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaccagcagagttctggCaggtgcccccgtttctgcag	7	9	12	13	1	2	1	0	0	2	1	2	1	2	1	3	2	5	6	3	2	1	3	novel		C3L-00368_TP	C3L-00368_NB	C	C																c.995G>T	p.Cys332Phe	p.C332F	ENST00000375023	6/30	295	267	28	287	287	0	strelka-varscan-mutect	NOTCH4,missense_variant,p.Cys332Phe,ENST00000375023,NM_004557.3;NOTCH4,non_coding_transcript_exon_variant,,ENST00000473562,;	A	ENST00000375023	Transcript	missense_variant	1134/6745	995/6012	332/2003	C/F	tGc/tTc		1		-1	NOTCH4	HGNC	HGNC:7884	protein_coding	YES	CCDS34420.1	ENSP00000364163	Q99466		UPI0000130571	NM_004557.3	deleterious(0)		6/30		PROSITE_profiles:PS50026,hmmpanther:PTHR24033:SF64,hmmpanther:PTHR24033,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,Pfam_domain:PF07645,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	15	32220569	32220569	C	A	1	0	0	0	0	1	0	0	0	10596	710	25	2		2	NOTCH4	6	32220569	Missense_Mutation	SNP	C	C3L-00368_TP	1611468	32220569	138585410	43	6830											
XPO5	0	.	GRCh38	chr6	43524566	43524567	+	Frame_Shift_Ins	INS	-	-	T																															aaaagcttgcagtcaaactgINSgtccagtgagtccttctgta																								novel		C3L-00368_TP	C3L-00368_NB	-	-																c.3381_3382insA	p.Gln1128ThrfsTer3	p.Q1128Tfs*3	ENST00000265351	31/32	213	184	29	197	197	0	sindel-varindel-pindel	XPO5,frameshift_variant,p.Gln1128ThrfsTer3,ENST00000265351,NM_020750.2;XPO5,frameshift_variant,p.Gln243ThrfsTer3,ENST00000455285,;POLR1C,intron_variant,,ENST00000304004,;POLR1C,downstream_gene_variant,,ENST00000372389,NM_203290.2;POLR1C,downstream_gene_variant,,ENST00000372344,;POLR1C,downstream_gene_variant,,ENST00000428025,;POLR1C,downstream_gene_variant,,ENST00000423780,;RP3-337H4.9,upstream_gene_variant,,ENST00000607571,;XPO5,3_prime_UTR_variant,,ENST00000486936,;XPO5,non_coding_transcript_exon_variant,,ENST00000455854,;XPO5,non_coding_transcript_exon_variant,,ENST00000488195,;POLR1C,downstream_gene_variant,,ENST00000455605,;POLR1C,downstream_gene_variant,,ENST00000481352,;POLR1C,downstream_gene_variant,,ENST00000488601,;XPO5,downstream_gene_variant,,ENST00000398835,;XPO5,downstream_gene_variant,,ENST00000450462,;POLR1C,downstream_gene_variant,,ENST00000512472,;	T	ENST00000265351	Transcript	frameshift_variant	3592-3593/5364	3381-3382/3615	1127-1128/1204	-/X	-/A		1		-1	XPO5	HGNC	HGNC:17675	protein_coding	YES	CCDS47430.1	ENSP00000265351	Q9HAV4		UPI000006CC97	NM_020750.2			31/32		hmmpanther:PTHR11223,hmmpanther:PTHR11223:SF3,Superfamily_domains:SSF48371																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	15	43524566	43524566	-	T	1	0	1	1	0	0	0	0	0	18006	1357	47	0		0	XPO5	6	43524566	Frame_Shift_Ins	INS	-	C3L-00368_TP	11303997	43524566	127281413	44	6831											
PHF3	0	.	GRCh38	chr6	63684896	63684896	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaactgagaacacccttGaaagaaataaaattgaaccg	21	7	6	7	1	0	4	0	3	0	2	0	5	0	4	2	0	3	0	2	0	8	4	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.1174G>T	p.Glu392Ter	p.E392*	ENST00000262043	4/16	205	173	32	247	246	1	strelka-varscan-mutect	PHF3,stop_gained,p.Glu392Ter,ENST00000262043,NM_001290259.1;PHF3,stop_gained,p.Glu392Ter,ENST00000393387,NM_015153.3;PHF3,stop_gained,p.Glu206Ter,ENST00000506783,;PHF3,stop_gained,p.Glu392Ter,ENST00000509330,NM_001290260.1;PHF3,stop_gained,p.Glu345Ter,ENST00000494284,;PHF3,stop_gained,p.Glu304Ter,ENST00000481385,;PHF3,intron_variant,,ENST00000515594,;PHF3,downstream_gene_variant,,ENST00000514822,;PHF3,3_prime_UTR_variant,,ENST00000509876,;	T	ENST00000262043	Transcript	stop_gained	1514/8233	1174/6120	392/2039	E/*	Gaa/Taa		1		1	PHF3	HGNC	HGNC:8921	protein_coding	YES	CCDS4966.1	ENSP00000262043	Q92576		UPI000007154D	NM_001290259.1			4/16																			HIGH	1	SNV	5			1										PASS		.	.												T	4	4	15	63684896	63684896	G	T	1	0	0	0	0	0	1	0	0	11923	1291	45	2		2	PHF3	6	63684896	Nonsense_Mutation	SNP	G	C3L-00368_TP	20160330	63684896	107121083	45	6832											
QRSL1	0	.	GRCh38	chr6	106654807	106654807	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacctctttgagtctgagggGgccaaagtaattgaagtatc	11	11	12	7	0	2	3	0	3	2	0	3	4	2	3	2	2	0	2	2	2	4	4	rs149046939		C3L-00368_TP	C3L-00368_NB	G	G																c.927G>T	p.=	p.G309G	ENST00000369046	8/11	206	189	17	235	235	0	varscan-mutect	QRSL1,synonymous_variant,p.=,ENST00000369046,NM_018292.4;QRSL1,downstream_gene_variant,,ENST00000369044,;	T	ENST00000369046	Transcript	synonymous_variant	1031/4106	927/1587	309/528	G	ggG/ggT	rs149046939	1		1	QRSL1	HGNC	HGNC:21020	protein_coding	YES	CCDS5057.1	ENSP00000358042	Q9H0R6		UPI0000047463	NM_018292.4			8/11		HAMAP:MF_00120,hmmpanther:PTHR11895:SF7,hmmpanther:PTHR11895,TIGRFAM_domain:TIGR00132,Gene3D:3.90.1300.10,Pfam_domain:PF01425,Superfamily_domains:SSF75304																	LOW	1	SNV	1			1										PASS		rs149046939	.												T	2	4	15	106654807	106654807	G	T	1	0	0	0	0	0	0	0	1	13036	1219	43	2		2	QRSL1	6	106654807	Silent	SNP	G	C3L-00368_TP	42969911	106654807	64151172	46	6833											
EYA4	0	.	GRCh38	chr6	133462687	133462687	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaactcagtccccattacAgagtggctgcctcagttaca	11	9	7	14	0	2	1	2	0	0	1	3	1	3	1	4	1	4	2	4	1	3	2	rs751512877		C3L-00368_TP	C3L-00368_NB	A	A																c.647A>T	p.Gln216Leu	p.Q216L	ENST00000531901	9/20	317	264	53	348	348	0	strelka-varscan-mutect	EYA4,missense_variant,p.Gln216Leu,ENST00000367895,NM_004100.4;EYA4,missense_variant,p.Gln216Leu,ENST00000355167,NM_172105.3;EYA4,missense_variant,p.Gln193Leu,ENST00000355286,NM_172103.3;EYA4,missense_variant,p.Gln193Leu,ENST00000525849,;EYA4,missense_variant,p.Gln216Leu,ENST00000531901,NM_001301013.1;EYA4,missense_variant,p.Gln162Leu,ENST00000452339,NM_001301012.1;EYA4,missense_variant,p.Gln162Leu,ENST00000430974,;EYA4,missense_variant,p.Gln216Leu,ENST00000431403,;EYA4,non_coding_transcript_exon_variant,,ENST00000531861,;EYA4,non_coding_transcript_exon_variant,,ENST00000421413,;EYA4,upstream_gene_variant,,ENST00000532518,;EYA4,downstream_gene_variant,,ENST00000525614,;EYA4,non_coding_transcript_exon_variant,,ENST00000497350,;	T	ENST00000531901	Transcript	missense_variant	876/2892	647/1938	216/645	Q/L	cAg/cTg	rs751512877	1		1	EYA4	HGNC	HGNC:3522	protein_coding	YES	CCDS75521.1	ENSP00000432770		F2Z2Y1	UPI0001AE72E3	NM_001301013.1	deleterious(0.05)		9/20		hmmpanther:PTHR10190:SF17,hmmpanther:PTHR10190																	MODERATE	1	SNV	2			1										PASS		rs751512877	.												T	3	4	15	133462687	133462687	A	T	1	0	0	0	0	1	0	0	0	5199	188	7	4		4	EYA4	6	133462687	Missense_Mutation	SNP	A	C3L-00368_TP	26807880	133462687	37343292	47	6834											
DDX56	0	.	GRCh38	chr7	44571572	44571572	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacaggcgtagccggtaactCcgttctagagtgttgacaaa	12	9	11	9	3	1	2	0	1	1	1	2	2	2	2	2	2	3	4	2	2	5	5	rs746566080		C3L-00368_TP	C3L-00368_NB	C	C																c.810G>T	p.=	p.R270R	ENST00000258772	6/14	407	362	45	362	361	1	strelka-mutect	DDX56,synonymous_variant,p.=,ENST00000258772,NM_019082.3;DDX56,synonymous_variant,p.=,ENST00000431640,NM_001257189.1;DDX56,upstream_gene_variant,,ENST00000448192,;DDX56,non_coding_transcript_exon_variant,,ENST00000485367,;DDX56,non_coding_transcript_exon_variant,,ENST00000467318,;DDX56,upstream_gene_variant,,ENST00000479602,;DDX56,synonymous_variant,p.=,ENST00000421223,;DDX56,synonymous_variant,p.=,ENST00000433257,;DDX56,3_prime_UTR_variant,,ENST00000446987,;DDX56,3_prime_UTR_variant,,ENST00000415758,;DDX56,downstream_gene_variant,,ENST00000479440,;DDX56,upstream_gene_variant,,ENST00000473924,;	A	ENST00000258772	Transcript	synonymous_variant	917/2336	810/1644	270/547	R	cgG/cgT	rs746566080	1		-1	DDX56	HGNC	HGNC:18193	protein_coding	YES	CCDS5492.1	ENSP00000258772	Q9NY93		UPI0000037BB1	NM_019082.3			6/14		Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF96,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs746566080	.												A	2	1	15	44571572	44571572	C	A	1	0	0	0	0	0	0	0	1	4177	842	30	2		2	DDX56	7	44571572	Silent	SNP	C	C3L-00368_TP		44571572	114774401	48	6835											
EGFR	0	.	GRCh38	chr7	55174015	55174015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaaagatcaaagtgctggGctccggtgcgttcggcacgg	10	7	14	10	4	1	1	1	0	0	1	3	1	2	1	1	4	2	4	1	4	3	1	rs121913428		C3L-00368_TP	C3L-00368_NB	G	G																c.2156G>C	p.Gly719Ala	p.G719A	ENST00000275493	18/28	373	305	68	346	346	0	strelka-mutect	EGFR,missense_variant,p.Gly719Ala,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Gly674Ala,ENST00000454757,;EGFR,missense_variant,p.Gly674Ala,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;	C	ENST00000275493	Transcript	missense_variant	2333/9821	2156/3633	719/1210	G/A	gGc/gCc	rs121913428,COSM18425,COSM20848,COSM6239	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		18/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										pathogenic	0,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs121913428	.												C	3	2	15	55174015	55174015	G	C	1	0	0	0	0	1	0	0	0	4803	1203	42	4		4	EGFR	7	55174015	Missense_Mutation	SNP	G	C3L-00368_TP	10602443	55174015	104171958	49	6836											
EGFR	0	.	GRCh38	chr7	55181312	55181312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcctacgtgatggccaGcgtggacaacccccacgtgt	9	6	13	13	3	0	1	0	1	0	0	0	3	0	3	4	3	4	0	4	3	3	1	rs121913465		C3L-00368_TP	C3L-00368_NB	G	G																c.2303G>T	p.Ser768Ile	p.S768I	ENST00000275493	20/28	241	196	45	272	272	0	strelka-varscan-mutect	EGFR,missense_variant,p.Ser768Ile,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ser723Ile,ENST00000454757,;EGFR,missense_variant,p.Ser723Ile,ENST00000455089,;EGFR-AS1,non_coding_transcript_exon_variant,,ENST00000442411,;	T	ENST00000275493	Transcript	missense_variant	2480/9821	2303/3633	768/1210	S/I	aGc/aTc	rs121913465,COSM12989,COSM291998,COSM6241	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		20/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										pathogenic	0,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs146024686	.												T	3	4	15	55181312	55181312	G	T	1	0	0	0	0	1	0	0	0	4803	971	34	2		2	EGFR	7	55181312	Missense_Mutation	SNP	G	C3L-00368_TP	7297	55181312	104164661	50	6837											
ZNF679	0	.	GRCh38	chr7	64249131	64249131	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatttatggctaaaagacCgggatcccctggaagccgag	12	7	12	10	2	0	2	0	0	0	2	1	5	1	4	4	3	1	1	4	3	4	3	rs559743213		C3L-00368_TP	C3L-00368_NB	C	C																c.14C>G	p.Pro5Arg	p.P5R	ENST00000421025	2/5	291	239	52	318	318	0	strelka-varscan-mutect	ZNF679,missense_variant,p.Pro5Arg,ENST00000421025,NM_153363.2;ZNF679,missense_variant,p.Pro5Arg,ENST00000255746,;	G	ENST00000421025	Transcript	missense_variant	283/1567	14/1236	5/411	P/R	cCg/cGg	rs559743213,COSM3785741	1		1	ZNF679	HGNC	HGNC:28650	protein_coding	YES	CCDS47592.1	ENSP00000416809	Q8IYX0		UPI000045756A	NM_153363.2	deleterious_low_confidence(0.02)		2/5													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs559743213	.												G	3	3	15	64249131	64249131	C	G	1	0	0	0	0	1	0	0	0	18659	652	23	4		4	ZNF679	7	64249131	Missense_Mutation	SNP	C	C3L-00368_TP	9067819	64249131	95096842	51	6838											
CYP3A43	0	.	GRCh38	chr7	99847510	99847510	+	Frame_Shift_Del	DEL	T	T	-																															tttaggtccaatgggatttcTgaaaagtgccttaagttttg																								rs747244688		C3L-00368_TP	C3L-00368_NB	T	T																c.341delT	p.Leu114ArgfsTer5	p.L114Rfs*5	ENST00000222382	5/13	125	104	21	151	151	0	sindel-varindel-pindel	CYP3A43,frameshift_variant,p.Leu114ArgfsTer5,ENST00000354829,NM_057095.2;CYP3A43,frameshift_variant,p.Leu114ArgfsTer5,ENST00000222382,NM_022820.4;CYP3A43,frameshift_variant,p.Leu114ArgfsTer5,ENST00000312017,NM_057096.3;CYP3A43,intron_variant,,ENST00000342499,;CYP3A43,intron_variant,,ENST00000417625,NM_001278921.1;CYP3A43,intron_variant,,ENST00000415413,;CYP3A43,intron_variant,,ENST00000444905,;CYP3A43,non_coding_transcript_exon_variant,,ENST00000477658,;CYP3A43,intron_variant,,ENST00000491648,;CYP3A43,intron_variant,,ENST00000495115,;CYP3A43,intron_variant,,ENST00000463915,;CYP3A43,frameshift_variant,p.Leu114ArgfsTer5,ENST00000434806,;CYP3A43,frameshift_variant,p.Leu63ArgfsTer5,ENST00000433277,;CYP3A43,frameshift_variant,p.Glu50LysfsTer34,ENST00000436834,;CYP3A43,non_coding_transcript_exon_variant,,ENST00000481362,;	-	ENST00000222382	Transcript	frameshift_variant	341/1515	341/1515	114/504	L/X	cTg/cg	rs747244688	1		1	CYP3A43	HGNC	HGNC:17450	protein_coding	YES	CCDS5675.1	ENSP00000222382	Q9HB55		UPI000002A50E	NM_022820.4			5/13		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24302,hmmpanther:PTHR24302:SF6,Superfamily_domains:SSF48264																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	15	99847510	99847510	T	-	1	0	1	0	1	0	0	0	0	3982	1580	55	0		0	CYP3A43	7	99847510	Frame_Shift_Del	DEL	T	C3L-00368_TP	35598379	99847510	59498463	52	6839											
FSCN3	0	.	GRCh38	chr7	127595324	127595324	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacctgggagatcttggtGagcaatgagcatgagacaca	13	7	13	8	0	1	5	0	3	1	3	1	7	1	5	1	2	2	2	1	2	1	1	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.162G>T	p.=	p.V54V	ENST00000265825	2/7	75	57	18	87	87	0	strelka-varscan-mutect	FSCN3,synonymous_variant,p.=,ENST00000265825,NM_020369.2;FSCN3,5_prime_UTR_variant,,ENST00000478821,;ARF5,downstream_gene_variant,,ENST00000000233,NM_001662.3;ARF5,downstream_gene_variant,,ENST00000415666,;FSCN3,non_coding_transcript_exon_variant,,ENST00000478328,;GCC1,upstream_gene_variant,,ENST00000497650,;GCC1,upstream_gene_variant,,ENST00000473728,;FSCN3,3_prime_UTR_variant,,ENST00000421705,;ARF5,downstream_gene_variant,,ENST00000463733,;FSCN3,upstream_gene_variant,,ENST00000469242,;ARF5,downstream_gene_variant,,ENST00000489673,;	T	ENST00000265825	Transcript	synonymous_variant	381/2238	162/1497	54/498	V	gtG/gtT		1		1	FSCN3	HGNC	HGNC:3961	protein_coding	YES	CCDS34746.1	ENSP00000265825	Q9NQT6	A0A140VK18	UPI000012AC5F	NM_020369.2			2/7		hmmpanther:PTHR10551,hmmpanther:PTHR10551:SF1,PIRSF_domain:PIRSF005682,Gene3D:2.80.10.50,Pfam_domain:PF06268,Superfamily_domains:SSF50405																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	15	127595324	127595324	G	T	1	0	0	0	0	0	0	0	1	5942	1277	45	2		2	FSCN3	7	127595324	Silent	SNP	G	C3L-00368_TP	27747814	127595324	31750649	53	6840											
MGAM2	0	.	GRCh38	chr7	142132048	142132048	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttactgataaacctttcAgcatcaaaataatgaggaca	17	10	7	7	0	2	2	2	2	0	0	2	3	2	3	1	2	3	2	1	2	6	4	novel		C3L-00368_TP	C3L-00368_NB	A	A																c.538A>G	p.Ser180Gly	p.S180G	ENST00000477922	6/48	122	102	20	148	148	0	strelka-varscan-mutect	MGAM2,missense_variant,p.Ser180Gly,ENST00000477922,NM_001293626.1;MGAM2,missense_variant,p.Ser180Gly,ENST00000550469,;	G	ENST00000477922	Transcript	missense_variant	592/7867	538/7548	180/2515	S/G	Agc/Ggc		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	tolerated(0.49)		6/48		Pfam_domain:PF16863,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF55,Superfamily_domains:SSF74650																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	15	142132048	142132048	A	G	1	0	0	0	0	1	0	0	0	9500	188	7	5		5	MGAM2	7	142132048	Missense_Mutation	SNP	A	C3L-00368_TP	14536724	142132048	17213925	54	6841											
KRBA1	0	.	GRCh38	chr7	149733450	149733451	+	Frame_Shift_Ins	INS	-	-	A																															aggaagtggccaccatgaggINSacccaggtgaatcggctggg																								novel		C3L-00368_TP	C3L-00368_NB	-	-																c.2599dupA	p.Thr867AsnfsTer52	p.T867Nfs*52	ENST00000496259	17/17	258	204	54	277	277	0	sindel-varindel-pindel	KRBA1,frameshift_variant,p.Thr833AsnfsTer52,ENST00000319551,NM_032534.3;KRBA1,frameshift_variant,p.Thr867AsnfsTer52,ENST00000496259,NM_001290187.1;KRBA1,frameshift_variant,p.Thr772AsnfsTer52,ENST00000485033,;KRBA1,3_prime_UTR_variant,,ENST00000621069,;KRBA1,downstream_gene_variant,,ENST00000489951,;	A	ENST00000496259	Transcript	frameshift_variant	2642-2643/3763	2598-2599/3195	866-867/1064	-/X	-/A		1		1	KRBA1	HGNC	HGNC:22228	protein_coding	YES	CCDS78285.1	ENSP00000418647		A0A0C4DH65	UPI0003F48BD7	NM_001290187.1			17/17		hmmpanther:PTHR22740																	HIGH	1	insertion	1	1		1										PASS		.	.												A	7	5	15	149733450	149733450	-	A	1	0	1	1	0	0	0	0	0	8319	1165	41	0		0	KRBA1	7	149733450	Frame_Shift_Ins	INS	-	C3L-00368_TP	7601402	149733450	9612523	55	6842											
PPP3CC	0	.	GRCh38	chr8	22474961	22474961	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttttttgtagctgtcccCtttcctccaacccaacggct	6	16	5	14	1	0	0	0	0	0	0	3	0	3	0	5	1	3	3	5	1	4	6	novel		C3L-00368_TP	C3L-00368_NB	C	C																c.57C>A	p.=	p.P19P	ENST00000397775	2/15	153	133	20	174	174	0	strelka-varscan-mutect	PPP3CC,synonymous_variant,p.=,ENST00000240139,NM_005605.4;PPP3CC,synonymous_variant,p.=,ENST00000289963,NM_001243975.1;PPP3CC,synonymous_variant,p.=,ENST00000397775,NM_001243974.1;PPP3CC,synonymous_variant,p.=,ENST00000518852,;PPP3CC,synonymous_variant,p.=,ENST00000522000,;PPP3CC,upstream_gene_variant,,ENST00000522034,;	A	ENST00000397775	Transcript	synonymous_variant	331/2094	57/1566	19/521	P	ccC/ccA		1		1	PPP3CC	HGNC	HGNC:9316	protein_coding	YES	CCDS59093.1	ENSP00000380878	P48454		UPI00017A7ABA	NM_001243974.1			2/15		hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF186,Superfamily_domains:SSF56300																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	15	22474961	22474961	C	A	1	0	0	0	0	0	0	0	1	12521	668	24	2		2	PPP3CC	8	22474961	Silent	SNP	C	C3L-00368_TP		22474961	122663675	56	6843											
SNTG1	0	.	GRCh38	chr8	50656961	50656961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaccccctccaggacaGagtgtactccccgaccttcc	9	6	8	18	1	0	2	0	0	0	2	3	4	3	3	7	1	1	2	7	1	2	2			C3L-00368_TP	C3L-00368_NB	G	G																c.902G>T	p.Arg301Ile	p.R301I	ENST00000522124	14/19	137	114	23	141	141	0	strelka-varscan-mutect	SNTG1,missense_variant,p.Arg301Ile,ENST00000522124,NM_018967.3;SNTG1,missense_variant,p.Arg301Ile,ENST00000518864,NM_001287813.1;SNTG1,missense_variant,p.Arg301Ile,ENST00000517473,NM_001287814.1;SNTG1,missense_variant,p.Arg301Ile,ENST00000520825,;SNTG1,missense_variant,p.Arg75Ile,ENST00000524004,;	T	ENST00000522124	Transcript	missense_variant	1563/3504	902/1554	301/517	R/I	aGa/aTa	COSM5409666,COSM5409667	1		1	SNTG1	HGNC	HGNC:13740	protein_coding	YES	CCDS6147.1	ENSP00000429842	Q9NSN8	A0A024R7Y0	UPI000004A0DD	NM_018967.3	deleterious(0)		14/19		Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF2,SMART_domains:SM00233,Superfamily_domains:SSF50729											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1479918393	.												T	3	4	15	50656961	50656961	G	T	1	0	0	0	0	1	0	0	0	15194	942	33	2		2	SNTG1	8	50656961	Missense_Mutation	SNP	G	C3L-00368_TP	28182000	50656961	94481675	57	6844											
ZFHX4	0	.	GRCh38	chr8	76842671	76842671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagaagaacaaagtgaggaGgcagaaggagctattaagcc	18	4	13	6	0	0	4	0	1	0	3	0	6	0	6	1	3	3	2	1	3	6	2	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.3411G>C	p.Glu1137Asp	p.E1137D	ENST00000521891	6/11	114	86	28	97	97	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Glu1137Asp,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Glu1111Asp,ENST00000518282,;ZFHX4,3_prime_UTR_variant,,ENST00000523625,;ZFHX4,3_prime_UTR_variant,,ENST00000519536,;	C	ENST00000521891	Transcript	missense_variant	3859/14019	3411/10851	1137/3616	E/D	gaG/gaC		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	tolerated(1)		6/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	15	76842671	76842671	G	C	1	0	0	0	0	1	0	0	0	18213	991	35	4		4	ZFHX4	8	76842671	Missense_Mutation	SNP	G	C3L-00368_TP	26185710	76842671	68295965	58	6845											
GRHL2	0	.	GRCh38	chr8	101644172	101644172	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttccggcccatggaagAggagtttggtccagtgcctt	7	11	14	9	1	0	1	0	0	0	1	2	4	2	3	4	4	1	2	4	4	1	3	novel		C3L-00368_TP	C3L-00368_NB	A	A																c.1559A>T	p.Glu520Val	p.E520V	ENST00000251808	13/16	484	413	71	465	465	0	strelka-varscan-mutect	GRHL2,missense_variant,p.Glu520Val,ENST00000251808,NM_024915.3;GRHL2,missense_variant,p.Glu504Val,ENST00000395927,;GRHL2,non_coding_transcript_exon_variant,,ENST00000517674,;GRHL2,non_coding_transcript_exon_variant,,ENST00000474338,;	T	ENST00000251808	Transcript	missense_variant	1897/5239	1559/1878	520/625	E/V	gAg/gTg		1		1	GRHL2	HGNC	HGNC:2799	protein_coding	YES	CCDS34931.1	ENSP00000251808	Q6ISB3		UPI000013CD16	NM_024915.3	deleterious(0.03)		13/16		hmmpanther:PTHR11037:SF17,hmmpanther:PTHR11037																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	15	101644172	101644172	A	T	1	0	0	0	0	1	0	0	0	6644	304	11	4		4	GRHL2	8	101644172	Missense_Mutation	SNP	A	C3L-00368_TP	24801501	101644172	43494464	59	6846											
ADCY8	0	.	GRCh38	chr8	131039468	131039468	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaggatggcccaggtgAgcggcagcggcagcatactg	8	4	17	12	3	0	1	0	1	0	0	0	2	0	2	2	6	4	3	2	6	1	1	novel		C3L-00368_TP	C3L-00368_NB	A	A																c.866T>A	p.Leu289His	p.L289H	ENST00000286355	1/18	244	197	47	302	302	0	strelka-varscan-mutect	ADCY8,missense_variant,p.Leu289His,ENST00000286355,NM_001115.2;ADCY8,missense_variant,p.Leu289His,ENST00000377928,;	T	ENST00000286355	Transcript	missense_variant	2959/5938	866/3756	289/1251	L/H	cTc/cAc		1		-1	ADCY8	HGNC	HGNC:239	protein_coding	YES	CCDS6363.1	ENSP00000286355	P40145	A0A0K0K1K3	UPI000012887C	NM_001115.2	deleterious(0)		1/18		Transmembrane_helices:TMhelix,hmmpanther:PTHR11920:SF320,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050,Pfam_domain:PF16214																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	15	131039468	131039468	A	T	1	0	0	0	0	1	0	0	0	344	304	11	4		4	ADCY8	8	131039468	Missense_Mutation	SNP	A	C3L-00368_TP	29395296	131039468	14099168	60	6847											
CDKN2A	0	.	GRCh38	chr9	21971187	21971187	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	8	6	10	17	3	2	1	2	1	0	0	4	1	3	1	3	1	4	4	3	1	0	0	rs121913387		C3L-00368_TP	C3L-00368_NB	G	G																c.172C>T	p.Arg58Ter	p.R58*	ENST00000498124	2/4	332	269	63	430	430	0	strelka-varscan-mutect	CDKN2A,stop_gained,p.Arg58Ter,ENST00000304494,NM_000077.4;CDKN2A,stop_gained,p.Arg7Ter,ENST00000494262,;CDKN2A,stop_gained,p.Arg7Ter,ENST00000498628,;CDKN2A,stop_gained,p.Arg58Ter,ENST00000498124,NM_001195132.1;CDKN2A,stop_gained,p.Arg7Ter,ENST00000578845,;CDKN2A,stop_gained,p.Arg58Ter,ENST00000579122,;CDKN2A,stop_gained,p.Arg7Ter,ENST00000497750,;CDKN2A,stop_gained,p.Arg7Ter,ENST00000479692,;CDKN2A,missense_variant,p.Pro72Leu,ENST00000579755,NM_058195.3;CDKN2A,missense_variant,p.Pro72Leu,ENST00000530628,;CDKN2A-AS1,downstream_gene_variant,,ENST00000441769,;CDKN2A,non_coding_transcript_exon_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,3_prime_UTR_variant,,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;	A	ENST00000498124	Transcript	stop_gained	211/880	172/504	58/167	R/*	Cga/Tga	rs121913387,CM940227,COSM12473,COSM13641,COSM1624870,COSM231506,COSM231507,COSM231508,COSM5599280,COSM99730,COSM99731	1		-1	CDKN2A	HGNC	HGNC:1787	protein_coding	YES	CCDS56565.1	ENSP00000418915	P42771		UPI0001565711	NM_001195132.1			2/4		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR24148,hmmpanther:PTHR24148:SF38,Superfamily_domains:SSF48403											0,0,1,1,1,1,1,1,1,1,1						HIGH	1	SNV	1		0,1,1,1,1,1,1,1,1,1,1	1										PASS		rs121913387	.												A	4	1	15	21971187	21971187	G	A	1	0	0	0	0	0	1	0	0	2865	1125	39	1		1	CDKN2A	9	21971187	Nonsense_Mutation	SNP	G	C3L-00368_TP		21971187	116423530	61	6848											
TAF1L	0	.	GRCh38	chr9	32632263	32632263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagctgagatgctgtctGtgtcagttgataagacctca	9	13	10	9	0	4	3	3	2	1	2	4	4	4	3	1	0	2	3	1	0	1	3	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.3317C>A	p.Thr1106Lys	p.T1106K	ENST00000242310	1/1	266	217	49	250	250	0	strelka-varscan-mutect	TAF1L,missense_variant,p.Thr1106Lys,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;	T	ENST00000242310	Transcript	missense_variant	3407/6216	3317/5481	1106/1826	T/K	aCa/aAa		1		-1	TAF1L	HGNC	HGNC:18056	protein_coding	YES	CCDS35003.1	ENSP00000418379	Q8IZX4		UPI000007408A	NM_153809.2	tolerated(0.07)		1/1		PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0																	MODERATE		SNV				1										PASS		.	.												T	3	4	15	32632263	32632263	G	T	1	0	0	0	0	1	0	0	0	15919	1377	48	2		2	TAF1L	9	32632263	Missense_Mutation	SNP	G	C3L-00368_TP	10661076	32632263	105762454	62	6849											
GDA	0	.	GRCh38	chr9	72241192	72241192	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattccatgcttgatgcaatCagaagagcagtgatggtttc	11	13	10	7	0	1	4	1	2	0	2	3	4	2	4	1	1	3	4	1	1	3	4	novel		C3L-00368_TP	C3L-00368_NB	C	C																c.1029C>A	p.=	p.I343I	ENST00000238018	11/16	118	88	30	156	156	0	strelka-varscan-mutect	GDA,synonymous_variant,p.=,ENST00000545168,NM_001242507.2,NM_001242506.2;GDA,synonymous_variant,p.=,ENST00000358399,NM_004293.4;GDA,synonymous_variant,p.=,ENST00000238018,NM_001242505.2;GDA,synonymous_variant,p.=,ENST00000376986,;GDA,synonymous_variant,p.=,ENST00000436438,;GDA,synonymous_variant,p.=,ENST00000475764,;GDA,synonymous_variant,p.=,ENST00000489618,;	A	ENST00000238018	Transcript	synonymous_variant	1238/2074	1029/1416	343/471	I	atC/atA		1		1	GDA	HGNC	HGNC:4212	protein_coding	YES	CCDS56576.1	ENSP00000238018	Q9Y2T3		UPI000015828B	NM_001242505.2			11/16		Gene3D:3.20.20.140,Pfam_domain:PF01979,hmmpanther:PTHR11271,hmmpanther:PTHR11271:SF6,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR02967																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	15	72241192	72241192	C	A	1	0	0	0	0	0	0	0	1	6178	816	29	2		2	GDA	9	72241192	Silent	SNP	C	C3L-00368_TP	39608929	72241192	66153525	63	6850											
UBQLN1	0	.	GRCh38	chr9	83679897	83679897	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggatttgagagcatgcTctgaacaaagggattttcca	12	11	11	7	0	2	2	1	2	1	1	3	5	3	4	1	2	3	2	1	2	2	3	novel		C3L-00368_TP	C3L-00368_NB	T	T																c.589A>G	p.Ser197Gly	p.S197G	ENST00000376395	4/11	297	280	17	325	324	1	strelka-varscan-mutect	UBQLN1,missense_variant,p.Ser197Gly,ENST00000376395,NM_013438.4;UBQLN1,missense_variant,p.Ser197Gly,ENST00000257468,NM_053067.2;UBQLN1,intron_variant,,ENST00000529923,;UBQLN1,non_coding_transcript_exon_variant,,ENST00000533705,;	C	ENST00000376395	Transcript	missense_variant	1113/4118	589/1770	197/589	S/G	Agc/Ggc		1		-1	UBQLN1	HGNC	HGNC:12508	protein_coding	YES	CCDS6663.1	ENSP00000365576	Q9UMX0	A0A024R284	UPI0000038DA1	NM_013438.4	tolerated(0.5)		4/11		hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF5,SMART_domains:SM00727																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	15	83679897	83679897	T	C	1	0	0	0	0	1	0	0	0	17420	1551	54	5		5	UBQLN1	9	83679897	Missense_Mutation	SNP	T	C3L-00368_TP	11438705	83679897	54714820	64	6851											
ZCCHC6	0	.	GRCh38	chr9	86323608	86323608	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggacactgatgtgttcAtttcccatttcttcttttgg	5	18	10	8	0	3	1	1	1	2	0	4	2	4	2	1	3	0	1	1	3	0	6	novel		C3L-00368_TP	C3L-00368_NB	A	A																c.2142T>G	p.Asn714Lys	p.N714K	ENST00000375963	13/27	247	205	42	289	289	0	strelka-varscan-mutect	ZCCHC6,missense_variant,p.Asn3Lys,ENST00000277141,;ZCCHC6,missense_variant,p.Asn714Lys,ENST00000375963,NM_024617.3,NM_001185059.1;ZCCHC6,missense_variant,p.Asn591Lys,ENST00000375960,NM_001185074.1;ZCCHC6,upstream_gene_variant,,ENST00000375957,;ZCCHC6,downstream_gene_variant,,ENST00000469004,;	C	ENST00000375963	Transcript	missense_variant	2315/5379	2142/4488	714/1495	N/K	aaT/aaG		1		-1	ZCCHC6	HGNC	HGNC:25817	protein_coding	YES	CCDS35057.1	ENSP00000365130	Q5VYS8		UPI00004588F6	NM_024617.3,NM_001185059.1	tolerated_low_confidence(0.19)		13/27																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	15	86323608	86323608	A	C	1	0	0	0	0	1	0	0	0	18167	214	8	5		5	ZCCHC6	9	86323608	Missense_Mutation	SNP	A	C3L-00368_TP	2643711	86323608	52071109	65	6852											
WNK2	0	.	GRCh38	chr9	93253019	93253019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgcagcccccctgtgagCgaggggcccgtcctgccgca	4	6	15	16	3	0	1	0	1	0	0	1	2	1	1	6	2	4	2	6	2	0	0	rs55672370		C3L-00368_TP	C3L-00368_NB	C	C																c.1971C>A	p.Ser657Arg	p.S657R	ENST00000297954	8/30	83	66	17	87	86	1	strelka-varscan-mutect	WNK2,missense_variant,p.Ser653Arg,ENST00000432730,;WNK2,missense_variant,p.Ser657Arg,ENST00000297954,NM_001282394.1;WNK2,missense_variant,p.Ser657Arg,ENST00000395477,NM_006648.3;WNK2,missense_variant,p.Ser261Arg,ENST00000411624,;WNK2,missense_variant,p.Ser657Arg,ENST00000448039,;WNK2,5_prime_UTR_variant,,ENST00000427277,;WNK2,upstream_gene_variant,,ENST00000464625,;	A	ENST00000297954	Transcript	missense_variant	1971/7138	1971/6894	657/2297	S/R	agC/agA	rs55672370	1		1	WNK2	HGNC	HGNC:14542	protein_coding	YES	CCDS75858.1	ENSP00000297954	Q9Y3S1		UPI0000236D76	NM_001282394.1	deleterious(0.02)		8/30		hmmpanther:PTHR13902:SF10,hmmpanther:PTHR13902																	MODERATE	1	SNV	1			1										PASS		rs55672370	.												A	3	1	15	93253019	93253019	C	A	1	0	0	0	0	1	0	0	0	17934	767	27	1		1	WNK2	9	93253019	Missense_Mutation	SNP	C	C3L-00368_TP	6929411	93253019	45141698	66	6853											
OR13C8	0	.	GRCh38	chr9	104569191	104569191	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggaccaacgattccacGtcgacagaatttttcctggt	12	10	9	10	3	0	1	0	0	0	1	3	5	2	2	3	2	1	0	3	2	3	3	rs78381147		C3L-00368_TP	C3L-00368_NB	G	G																c.24G>C	p.=	p.T8T	ENST00000335040	1/1	83	67	16	81	81	0	strelka-varscan-mutect	OR13C8,synonymous_variant,p.=,ENST00000335040,NM_001004483.1;	C	ENST00000335040	Transcript	synonymous_variant	24/963	24/963	8/320	T	acG/acC	rs78381147	1		1	OR13C8	HGNC	HGNC:15103	protein_coding	YES	CCDS35090.1	ENSP00000334068	Q8NGS7	A0A126GVC7	UPI000004B203	NM_001004483.1			1/1		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF87,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs78381147	.												C	2	2	15	104569191	104569191	G	C	1	0	0	0	0	0	0	0	1	11014	1132	40	4		4	OR13C8	9	104569191	Silent	SNP	G	C3L-00368_TP	11316172	104569191	33825526	67	6854											
SVEP1	0	.	GRCh38	chr9	110379473	110379473	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgataatgtacgcctcGagcaattgcattttctacgt	11	15	7	8	3	1	1	0	1	1	0	2	2	1	1	1	0	4	3	1	0	5	8	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.10282C>A	p.=	p.R3428R	ENST00000374469	44/48	213	181	32	229	228	1	strelka-varscan-mutect	SVEP1,synonymous_variant,p.=,ENST00000401783,;SVEP1,synonymous_variant,p.=,ENST00000374469,NM_153366.3;SVEP1,upstream_gene_variant,,ENST00000476205,;	T	ENST00000374469	Transcript	synonymous_variant	10477/12194	10282/10716	3428/3571	R	Cga/Aga		1		-1	SVEP1	HGNC	HGNC:15985	protein_coding	YES	CCDS48004.1	ENSP00000363593	Q4LDE5		UPI000153DA74	NM_153366.3			44/48		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	15	110379473	110379473	G	T	1	0	0	0	0	0	0	0	1	15805	1066	37	1		1	SVEP1	9	110379473	Silent	SNP	G	C3L-00368_TP	5810282	110379473	28015244	68	6855											
TLR4	0	.	GRCh38	chr9	117713840	117713840	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcattttccaagtagtcTagctttcttaaatcttactc	11	16	4	10	0	3	0	0	0	3	0	5	0	4	0	1	0	3	3	1	0	6	7	novel		C3L-00368_TP	C3L-00368_NB	T	T																c.1712T>A	p.Leu571Gln	p.L571Q	ENST00000355622	3/3	213	202	11	247	246	1	strelka-mutect	TLR4,missense_variant,p.Leu571Gln,ENST00000355622,NM_138554.4;TLR4,missense_variant,p.Leu531Gln,ENST00000394487,NM_003266.3;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,downstream_gene_variant,,ENST00000490685,;	A	ENST00000355622	Transcript	missense_variant	1813/4844	1712/2520	571/839	L/Q	cTa/cAa		1		1	TLR4	HGNC	HGNC:11850	protein_coding	YES	CCDS6818.1	ENSP00000363089	O00206		UPI0000137057	NM_138554.4	deleterious(0.02)		3/3		hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	15	117713840	117713840	T	A	1	0	0	0	0	1	0	0	0	16399	1522	53	4		4	TLR4	9	117713840	Missense_Mutation	SNP	T	C3L-00368_TP	7334367	117713840	20680877	69	6856											
BRINP1	0	.	GRCh38	chr9	119168027	119168027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtagcccttgttgcaggagCcgcagagggagatgttggcc	7	9	16	9	1	0	2	0	0	0	2	0	4	0	3	3	3	3	5	3	3	1	4	novel		C3L-00368_TP	C3L-00368_NB	C	C																c.1343G>A	p.Gly448Asp	p.G448D	ENST00000265922	8/8	144	107	37	142	142	0	strelka-varscan-mutect	BRINP1,missense_variant,p.Gly448Asp,ENST00000265922,NM_014618.2;BRINP1,intron_variant,,ENST00000482797,;	T	ENST00000265922	Transcript	missense_variant	1805/3202	1343/2286	448/761	G/D	gGc/gAc		1		-1	BRINP1	HGNC	HGNC:2687	protein_coding	YES	CCDS6822.1	ENSP00000265922	O60477		UPI000013D6A7	NM_014618.2	deleterious(0)		8/8		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF7																	MODERATE	1	SNV	1			1										PASS		rs1181656311	.												T	3	4	15	119168027	119168027	C	T	1	0	0	0	0	1	0	0	0	1685	739	26	3		3	BRINP1	9	119168027	Missense_Mutation	SNP	C	C3L-00368_TP	1454187	119168027	19226690	70	6857											
SLC39A12	0	.	GRCh38	chr10	17953309	17953309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaaagctctcagtatcctgGgtgccattgtttcttctact	8	15	7	11	0	3	0	1	0	3	0	5	0	4	0	2	1	3	3	2	1	3	5	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.33G>T	p.Trp11Cys	p.W11C	ENST00000377369	2/13	178	145	33	166	166	0	strelka-varscan-mutect	SLC39A12,missense_variant,p.Trp11Cys,ENST00000377369,NM_001145195.1;SLC39A12,missense_variant,p.Trp11Cys,ENST00000377371,NM_001282733.1;SLC39A12,missense_variant,p.Trp11Cys,ENST00000377374,NM_152725.3;SLC39A12,intron_variant,,ENST00000539911,NM_001282734.1;	T	ENST00000377369	Transcript	missense_variant	306/2808	33/2076	11/691	W/C	tgG/tgT		1		1	SLC39A12	HGNC	HGNC:20860	protein_coding	YES	CCDS44362.1	ENSP00000366586	Q504Y0		UPI00004044FC	NM_001145195.1	tolerated_low_confidence(0.11)		2/13		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	15	17953309	17953309	G	T	1	0	0	0	0	1	0	0	0	14893	1241	43	2		2	SLC39A12	10	17953309	Missense_Mutation	SNP	G	C3L-00368_TP		17953309	115844113	71	6858											
CDHR1	0	.	GRCh38	chr10	84213297	84213297	+	Silent	SNP	C	C	A																															caggccaaggaccggggctcCccatccttcagcaccacagc																								novel		C3L-00368_TP	C3L-00368_NB	C	C																c.1989C>A	p.=	p.S663S	ENST00000623527	16/17	263	219	44	282	281	1	strelka-varscan-mutect	CDHR1,synonymous_variant,p.=,ENST00000623527,NM_033100.3;CDHR1,synonymous_variant,p.=,ENST00000372117,;CDHR1,synonymous_variant,p.=,ENST00000332904,NM_001171971.2;CDHR1,synonymous_variant,p.=,ENST00000623399,;CDHR1,3_prime_UTR_variant,,ENST00000622973,;CDHR1,non_coding_transcript_exon_variant,,ENST00000459673,;CDHR1,downstream_gene_variant,,ENST00000624091,;	A	ENST00000623527	Transcript	synonymous_variant	2115/6781	1989/2580	663/859	S	tcC/tcA		1		1	CDHR1	HGNC	HGNC:14550	protein_coding	YES	CCDS7372.1	ENSP00000485478	Q96JP9	F1T0L2	UPI0000161C2F	NM_033100.3			16/17		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF340,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs1326140421	.												A	2	1	15	84213297	84213297	C	A	1	0	0	0	0	0	0	0	1	2821	610	22	2		2	CDHR1	10	84213297	Silent	SNP	C	C3L-00368_TP	66259988	84213297	49584125	72	6859	157	2									
CDHR1	0	.	GRCh38	chr10	84213298	84213298	+	Missense_Mutation	SNP	C	C	A																															aggccaaggaccggggctccCcatccttcagcaccacagcc																								novel		C3L-00368_TP	C3L-00368_NB	C	C																c.1990C>A	p.Pro664Thr	p.P664T	ENST00000623527	16/17	265	221	44	289	288	1	strelka-varscan-mutect	CDHR1,missense_variant,p.Pro664Thr,ENST00000623527,NM_033100.3;CDHR1,missense_variant,p.Pro403Thr,ENST00000372117,;CDHR1,missense_variant,p.Pro664Thr,ENST00000332904,NM_001171971.2;CDHR1,missense_variant,p.Pro55Thr,ENST00000623399,;CDHR1,3_prime_UTR_variant,,ENST00000622973,;CDHR1,non_coding_transcript_exon_variant,,ENST00000459673,;CDHR1,downstream_gene_variant,,ENST00000624091,;	A	ENST00000623527	Transcript	missense_variant	2116/6781	1990/2580	664/859	P/T	Cca/Aca		1		1	CDHR1	HGNC	HGNC:14550	protein_coding	YES	CCDS7372.1	ENSP00000485478	Q96JP9	F1T0L2	UPI0000161C2F	NM_033100.3	deleterious(0)		16/17		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF340,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs1159878390	.												A	3	1	15	84213298	84213298	C	A	1	0	0	0	0	1	0	0	0	2821	623	22	2		2	CDHR1	10	84213298	Missense_Mutation	SNP	C	C3L-00368_TP	1	84213298	49584124	73	6860	157	2									
PSD	0	.	GRCh38	chr10	102415219	102415219	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgggggggcctgctctggGggcttagcacctgtagtgtg	4	10	19	8	0	1	0	0	0	1	0	1	1	1	0	2	5	2	4	2	5	2	2	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.768C>T	p.=	p.P256P	ENST00000020673	4/17	75	71	4	108	108	0	varscan-mutect	PSD,synonymous_variant,p.=,ENST00000020673,NM_002779.4;PSD,synonymous_variant,p.=,ENST00000406432,NM_001270965.1;PSD,5_prime_UTR_variant,,ENST00000611678,NM_001270966.1;FBXL15,upstream_gene_variant,,ENST00000224862,NM_024326.3;FBXL15,upstream_gene_variant,,ENST00000369956,;FBXL15,upstream_gene_variant,,ENST00000432590,;FBXL15,upstream_gene_variant,,ENST00000457067,;PSD,downstream_gene_variant,,ENST00000492902,;FBXL15,upstream_gene_variant,,ENST00000481808,;PSD,downstream_gene_variant,,ENST00000472685,;PSD,upstream_gene_variant,,ENST00000488194,;	A	ENST00000020673	Transcript	synonymous_variant	1295/4183	768/3075	256/1024	P	ccC/ccT		1		-1	PSD	HGNC	HGNC:9507	protein_coding	YES	CCDS31272.1	ENSP00000020673	A5PKW4		UPI0000404928	NM_002779.4			4/17		Low_complexity_(Seg):seg,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF115																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	15	102415219	102415219	G	A	1	0	0	0	0	0	0	0	1	12797	1219	43	3		3	PSD	10	102415219	Silent	SNP	G	C3L-00368_TP	18201921	102415219	31382203	74	6861											
PTDSS2	0	.	GRCh38	chr11	490491	490492	+	Frame_Shift_Del	DEL	TC	TC	-																															ggatgaccagggcagcaccgTcggcaacggggaccagcacc																								novel		C3L-00368_TP	C3L-00368_NB	TC	TC																c.1373_1374delTC	p.Val458GlyfsTer38	p.V458Gfs*38	ENST00000308020	12/12	302	261	41	324	324	0	sindel-varindel-pindel	PTDSS2,frameshift_variant,p.Val458GlyfsTer38,ENST00000308020,NM_030783.1;RNH1,downstream_gene_variant,,ENST00000534797,;RNH1,downstream_gene_variant,,ENST00000397615,NM_203383.1,NM_002939.3;RNH1,downstream_gene_variant,,ENST00000354420,NM_203387.2;RNH1,downstream_gene_variant,,ENST00000397614,NM_203385.1;RNH1,downstream_gene_variant,,ENST00000533410,NM_203386.2;RNH1,downstream_gene_variant,,ENST00000356187,NM_203389.2;RNH1,downstream_gene_variant,,ENST00000438658,NM_203384.1;RNH1,downstream_gene_variant,,ENST00000397604,NM_203388.2;RNH1,downstream_gene_variant,,ENST00000529768,;PTDSS2,downstream_gene_variant,,ENST00000532614,;PTDSS2,non_coding_transcript_exon_variant,,ENST00000526878,;PTDSS2,non_coding_transcript_exon_variant,,ENST00000531411,;PTDSS2,non_coding_transcript_exon_variant,,ENST00000530029,;RNH1,downstream_gene_variant,,ENST00000525522,;RNH1,downstream_gene_variant,,ENST00000525701,;PTDSS2,downstream_gene_variant,,ENST00000531520,;PTDSS2,downstream_gene_variant,,ENST00000527325,;RNH1,downstream_gene_variant,,ENST00000524464,;	-	ENST00000308020	Transcript	frameshift_variant	1549-1550/2445	1373-1374/1464	458/487	V/X	gTC/g		1		1	PTDSS2	HGNC	HGNC:15463	protein_coding	YES	CCDS7696.1	ENSP00000308258	Q9BVG9	A0A024RC97	UPI000004124C	NM_030783.1			12/12		hmmpanther:PTHR15362,hmmpanther:PTHR15362:SF12																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	15	490491	490491	TC	-	1	0	1	0	1	0	0	0	0	12890	1667	58	0		0	PTDSS2	11	490491	Frame_Shift_Del	DEL	TC	C3L-00368_TP		490491	134596131	75	6862											
PDE3B	0	.	GRCh38	chr11	14644234	14644234	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttccacctctgccgCttctgcaacgtggagctgcg	4	13	9	15	3	4	0	0	0	4	0	5	1	5	1	3	1	5	3	3	1	1	4	novel		C3L-00368_TP	C3L-00368_NB	C	C																c.159C>T	p.=	p.R53R	ENST00000282096	1/16	183	133	50	202	202	0	strelka-varscan-mutect	PDE3B,synonymous_variant,p.=,ENST00000282096,NM_000922.3;PDE3B,synonymous_variant,p.=,ENST00000455098,;PSMA1,upstream_gene_variant,,ENST00000418988,NM_148976.2;PDE3B,upstream_gene_variant,,ENST00000534317,;PSMA1,upstream_gene_variant,,ENST00000528018,;	T	ENST00000282096	Transcript	synonymous_variant	512/6076	159/3339	53/1112	R	cgC/cgT		1		1	PDE3B	HGNC	HGNC:8779	protein_coding	YES	CCDS7817.1	ENSP00000282096	Q13370		UPI000013DCB7	NM_000922.3			1/16																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	15	14644234	14644234	C	T	1	0	0	0	0	0	0	0	1	11726	784	28	3		3	PDE3B	11	14644234	Silent	SNP	C	C3L-00368_TP	14153743	14644234	120442388	76	6863											
NAV2	0	.	GRCh38	chr11	19933546	19933546	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcggctggagactctgccCagcttcgaagagagcgagga	10	5	16	10	3	1	2	0	0	1	2	2	8	1	3	1	3	4	2	1	3	1	1			C3L-00368_TP	C3L-00368_NB	C	C																c.1371C>T	p.=	p.P457P	ENST00000396087	8/41	67	56	11	63	63	0	strelka-varscan-mutect	NAV2,synonymous_variant,p.=,ENST00000527559,;NAV2,synonymous_variant,p.=,ENST00000540292,;NAV2,synonymous_variant,p.=,ENST00000396085,NM_182964.5;NAV2,synonymous_variant,p.=,ENST00000349880,NM_145117.4;NAV2,synonymous_variant,p.=,ENST00000360655,NM_001111018.1;NAV2,synonymous_variant,p.=,ENST00000396087,NM_001244963.1;NAV2,non_coding_transcript_exon_variant,,ENST00000528008,;	T	ENST00000396087	Transcript	synonymous_variant	1470/7882	1371/7467	457/2488	P	ccC/ccT	COSM5562437,COSM5562438	1		1	NAV2	HGNC	HGNC:15997	protein_coding	YES	CCDS58126.1	ENSP00000379396	Q8IVL1		UPI00001E0580	NM_001244963.1			8/41		Low_complexity_(Seg):seg,hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784											1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												T	2	4	15	19933546	19933546	C	T	1	0	0	0	0	0	0	0	1	10193	581	21	3		3	NAV2	11	19933546	Silent	SNP	C	C3L-00368_TP	5289312	19933546	115153076	77	6864											
OR5A1	0	.	GRCh38	chr11	59444055	59444055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctctcatttacagtttgaGgaacaaagagatcaaggatg	14	10	9	8	0	2	2	2	1	1	1	3	5	2	4	1	2	2	1	1	2	4	3	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.887G>T	p.Arg296Met	p.R296M	ENST00000302030	1/1	139	112	27	174	174	0	strelka-varscan-mutect	OR5A1,missense_variant,p.Arg296Met,ENST00000302030,NM_001004728.1;	T	ENST00000302030	Transcript	missense_variant	912/1051	887/948	296/315	R/M	aGg/aTg		1		1	OR5A1	HGNC	HGNC:8319	protein_coding	YES	CCDS31561.1	ENSP00000303096	Q8NGJ0		UPI0000041C97	NM_001004728.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF354,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	15	59444055	59444055	G	T	1	0	0	0	0	1	0	0	0	11211	1000	35	2		2	OR5A1	11	59444055	Missense_Mutation	SNP	G	C3L-00368_TP	39510509	59444055	75642567	78	6865											
DDB1	0	.	GRCh38	chr11	61313538	61313538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattgaggggacacatgtagTtcacttccttgaggttgaca	11	12	11	7	0	1	3	1	3	0	0	2	4	2	4	1	3	0	3	1	3	2	6	novel		C3L-00368_TP	C3L-00368_NB	T	T																c.2030A>G	p.Asn677Ser	p.N677S	ENST00000301764	16/27	183	152	31	182	182	0	strelka-varscan-mutect	DDB1,missense_variant,p.Asn677Ser,ENST00000301764,NM_001923.4;DDB1,intron_variant,,ENST00000543658,;DDB1,downstream_gene_variant,,ENST00000545930,;DDB1,downstream_gene_variant,,ENST00000538280,;DDB1,missense_variant,p.Asn677Ser,ENST00000540166,;DDB1,non_coding_transcript_exon_variant,,ENST00000535147,;DDB1,non_coding_transcript_exon_variant,,ENST00000537877,;DDB1,downstream_gene_variant,,ENST00000414411,;DDB1,upstream_gene_variant,,ENST00000539332,;DDB1,downstream_gene_variant,,ENST00000539739,;DDB1,downstream_gene_variant,,ENST00000535967,;DDB1,downstream_gene_variant,,ENST00000540784,;DDB1,downstream_gene_variant,,ENST00000535174,;	C	ENST00000301764	Transcript	missense_variant	2428/4506	2030/3423	677/1140	N/S	aAc/aGc		1		-1	DDB1	HGNC	HGNC:2717	protein_coding	YES	CCDS31576.1	ENSP00000301764	Q16531		UPI0000000CB7	NM_001923.4	tolerated(0.52)		16/27		hmmpanther:PTHR10644																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	15	61313538	61313538	T	C	1	0	0	0	0	1	0	0	0	4126	1725	60	5		5	DDB1	11	61313538	Missense_Mutation	SNP	T	C3L-00368_TP	1869483	61313538	73773084	79	6866											
TKFC	0	.	GRCh38	chr11	61339326	61339326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcccgggagcaggcccGggctgaaggcatcccggtgg	5	4	18	14	3	0	1	0	1	0	0	1	2	1	2	4	7	1	3	4	7	1	0	rs750037556		C3L-00368_TP	C3L-00368_NB	G	G																c.377G>T	p.Arg126Leu	p.R126L	ENST00000394900	5/18	153	132	21	155	155	0	strelka-varscan-mutect	TKFC,missense_variant,p.Arg126Leu,ENST00000394900,NM_015533.3;TKFC,missense_variant,p.Arg125Leu,ENST00000529479,;TKFC,missense_variant,p.Arg126Leu,ENST00000532173,;TKFC,upstream_gene_variant,,ENST00000534084,;TKFC,downstream_gene_variant,,ENST00000524968,;TKFC,downstream_gene_variant,,ENST00000530057,;TKFC,downstream_gene_variant,,ENST00000533393,;TKFC,downstream_gene_variant,,ENST00000530456,;TKFC,downstream_gene_variant,,ENST00000525170,;TKFC,downstream_gene_variant,,ENST00000529620,;TKFC,non_coding_transcript_exon_variant,,ENST00000529092,;DDB1,intron_variant,,ENST00000540166,;TKFC,downstream_gene_variant,,ENST00000529121,;TKFC,upstream_gene_variant,,ENST00000534134,;TKFC,upstream_gene_variant,,ENST00000524953,;TKFC,upstream_gene_variant,,ENST00000528061,;TKFC,upstream_gene_variant,,ENST00000533853,;TKFC,upstream_gene_variant,,ENST00000534370,;	T	ENST00000394900	Transcript	missense_variant	606/4696	377/1728	126/575	R/L	cGg/cTg	rs750037556	1		1	TKFC	HGNC	HGNC:24552	protein_coding	YES	CCDS8003.1	ENSP00000378360	Q3LXA3	A0A140VJH7	UPI00000718B9	NM_015533.3	deleterious(0)		5/18		PROSITE_profiles:PS51481,hmmpanther:PTHR28629:SF4,hmmpanther:PTHR28629,Gene3D:3.40.50.10440,TIGRFAM_domain:TIGR02361,Pfam_domain:PF02733,Superfamily_domains:SSF82549																	MODERATE	1	SNV	1			1										PASS		rs750037556	.												T	3	4	15	61339326	61339326	G	T	1	0	0	0	0	1	0	0	0	16376	1116	39	1		1	TKFC	11	61339326	Missense_Mutation	SNP	G	C3L-00368_TP	25788	61339326	73747296	80	6867											
CCDC87	0	.	GRCh38	chr11	66590848	66590848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatgggcttcagggccCgctcccaggcattcaccaat	8	8	11	14	1	2	1	2	1	0	0	3	1	3	1	3	3	0	4	3	3	2	2	rs201450672		C3L-00368_TP	C3L-00368_NB	C	C																c.2168G>T	p.Arg723Leu	p.R723L	ENST00000333861	1/1	194	165	29	189	188	1	strelka-varscan-mutect	CCDC87,missense_variant,p.Arg723Leu,ENST00000333861,NM_018219.2;CCS,upstream_gene_variant,,ENST00000533244,NM_005125.1;CCS,upstream_gene_variant,,ENST00000310190,;CCS,upstream_gene_variant,,ENST00000530961,;CCS,upstream_gene_variant,,ENST00000530384,;CCS,upstream_gene_variant,,ENST00000526066,;CCS,upstream_gene_variant,,ENST00000531990,;CCS,upstream_gene_variant,,ENST00000526058,;	A	ENST00000333861	Transcript	missense_variant	2236/2908	2168/2550	723/849	R/L	cGg/cTg	rs201450672,COSM333528	1		-1	CCDC87	HGNC	HGNC:25579	protein_coding	YES	CCDS8145.1	ENSP00000328487	Q9NVE4		UPI000013EFC2	NM_018219.2	tolerated(0.17)		1/1		hmmpanther:PTHR16078,hmmpanther:PTHR16078:SF1,Pfam_domain:PF03999											0,1						MODERATE		SNV			0,1	1										PASS		rs201450672	.												A	3	1	15	66590848	66590848	C	A	1	0	0	0	0	1	0	0	0	2561	652	23	1		1	CCDC87	11	66590848	Missense_Mutation	SNP	C	C3L-00368_TP	5251522	66590848	68495774	81	6868											
FAT3	0	.	GRCh38	chr11	92797985	92797985	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgctactgcaattgtgCgcatttccgtcaccatgtct	6	15	8	12	2	3	0	1	0	2	0	4	0	4	0	2	0	4	3	2	0	2	3	rs201013393		C3L-00368_TP	C3L-00368_NB	C	C																c.4522C>A	p.Arg1508Ser	p.R1508S	ENST00000525166	9/27	215	177	38	226	226	0	strelka-varscan-mutect	FAT3,missense_variant,p.Arg1658Ser,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Arg1508Ser,ENST00000525166,;	A	ENST00000525166	Transcript	missense_variant	4544/18699	4522/13320	1508/4439	R/S	Cgc/Agc	rs201013393,COSM4201756,COSM4201757	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		tolerated(0.24)		9/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs201013393	.												A	3	1	15	92797985	92797985	C	A	1	0	0	0	0	1	0	0	0	5551	768	27	1		1	FAT3	11	92797985	Missense_Mutation	SNP	C	C3L-00368_TP	26207137	92797985	42288637	82	6869											
DRD2	0	.	GRCh38	chr11	113412632	113412632	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctacggctcatggtcttgagGgaggtccgggttttgccatt	5	13	14	9	2	2	1	1	1	1	0	3	2	3	2	2	5	2	2	2	5	1	5	rs149410294		C3L-00368_TP	C3L-00368_NB	G	G																c.1062C>A	p.=	p.S354S	ENST00000362072	7/8	419	328	91	533	533	0	strelka-varscan-mutect	DRD2,synonymous_variant,p.=,ENST00000362072,NM_000795.3;DRD2,synonymous_variant,p.=,ENST00000544518,;DRD2,synonymous_variant,p.=,ENST00000542968,;DRD2,synonymous_variant,p.=,ENST00000346454,NM_016574.3;DRD2,synonymous_variant,p.=,ENST00000538967,;DRD2,downstream_gene_variant,,ENST00000543292,;RP11-159N11.3,downstream_gene_variant,,ENST00000546284,;DRD2,downstream_gene_variant,,ENST00000535984,;DRD2,downstream_gene_variant,,ENST00000540600,;DRD2,downstream_gene_variant,,ENST00000539420,;	T	ENST00000362072	Transcript	synonymous_variant	1407/2789	1062/1332	354/443	S	tcC/tcA	rs149410294	1		-1	DRD2	HGNC	HGNC:3023	protein_coding	YES	CCDS8361.1	ENSP00000354859	P14416	A0A024R3C5	UPI0000001315	NM_000795.3			7/8		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF68,SMART_domains:SM01381																	LOW	1	SNV	1			1										PASS		rs149410294	.												T	2	4	15	113412632	113412632	G	T	1	0	0	0	0	0	0	0	1	4576	1219	43	2		2	DRD2	11	113412632	Silent	SNP	G	C3L-00368_TP	20614647	113412632	21673990	83	6870											
OR8B2	0	.	GRCh38	chr11	124383050	124383050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaagaaaaacagccgagtCatgcacccaacattggagat	18	5	9	9	1	1	3	1	0	0	3	1	5	1	3	2	1	4	1	2	1	4	1	rs765029743		C3L-00368_TP	C3L-00368_NB	C	C																c.294G>A	p.Met98Ile	p.M98I	ENST00000375013	1/1	270	220	50	379	379	0	strelka-varscan-mutect	OR8B2,missense_variant,p.Met98Ile,ENST00000375013,NM_001005468.1;	T	ENST00000375013	Transcript	missense_variant	313/968	294/942	98/313	M/I	atG/atA	rs765029743	1		-1	OR8B2	HGNC	HGNC:8471	protein_coding	YES	CCDS31708.1	ENSP00000364152	Q96RD0	A0A126GVQ4	UPI000004B1E5	NM_001005468.1	deleterious_low_confidence(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF258,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs765029743	.												T	3	4	15	124383050	124383050	C	T	1	0	0	0	0	1	0	0	0	11297	826	29	3		3	OR8B2	11	124383050	Missense_Mutation	SNP	C	C3L-00368_TP	10970418	124383050	10703572	84	6871											
TMTC1	0	.	GRCh38	chr12	29556977	29556977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttccaaggttgttgagcGcacttgcatggcgtggatac	7	12	14	8	2	0	1	0	1	0	0	1	2	1	2	1	3	3	5	1	3	2	5			C3L-00368_TP	C3L-00368_NB	G	G																c.1556C>A	p.Ala519Glu	p.A519E	ENST00000539277	10/18	363	180	183	265	265	0	strelka-varscan-mutect	TMTC1,missense_variant,p.Ala411Glu,ENST00000256062,NM_175861.3;TMTC1,missense_variant,p.Ala581Glu,ENST00000551659,;TMTC1,missense_variant,p.Ala543Glu,ENST00000552618,;TMTC1,missense_variant,p.Ala519Glu,ENST00000539277,NM_001193451.1;TMTC1,non_coding_transcript_exon_variant,,ENST00000319685,;TMTC1,non_coding_transcript_exon_variant,,ENST00000553189,;	T	ENST00000539277	Transcript	missense_variant	1615/2758	1556/2649	519/882	A/E	gCg/gAg	COSM4041331,COSM4041332	1		-1	TMTC1	HGNC	HGNC:24099	protein_coding	YES	CCDS53772.1	ENSP00000442046	Q8IUR5		UPI0001DD37FA	NM_001193451.1	deleterious(0)		10/18		Gene3D:1.25.40.10,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF401,SMART_domains:SM00028,Superfamily_domains:SSF48452											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1359298899	.												T	3	4	15	29556977	29556977	G	T	1	0	0	0	0	1	0	0	0	16734	1087	38	1		1	TMTC1	12	29556977	Missense_Mutation	SNP	G	C3L-00368_TP		29556977	103718332	85	6872											
TPH2	0	.	GRCh38	chr12	72031521	72031521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacttctgtttattctgcagGgactttgcaaagtcaattac	10	16	7	8	0	3	0	1	0	2	0	3	1	3	1	0	1	4	3	0	1	5	7	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.1299G>T	p.Arg433Ser	p.R433S	ENST00000333850	11/11	344	287	57	379	379	0	strelka-varscan-mutect	TPH2,missense_variant,p.Arg433Ser,ENST00000333850,NM_173353.3;TPH2,intron_variant,,ENST00000550403,;TPH2,intron_variant,,ENST00000547348,;TPH2,intron_variant,,ENST00000547278,;TPH2,intron_variant,,ENST00000551074,;	T	ENST00000333850	Transcript	missense_variant,splice_region_variant	1440/2360	1299/1473	433/490	R/S	agG/agT		1		1	TPH2	HGNC	HGNC:20692	protein_coding	YES	CCDS31859.1	ENSP00000329093	Q8IWU9		UPI000007446F	NM_173353.3	deleterious(0)		11/11		Gene3D:1.10.800.10,Pfam_domain:PF00351,PIRSF_domain:PIRSF000336,PROSITE_profiles:PS51410,hmmpanther:PTHR11473,hmmpanther:PTHR11473:SF16,Superfamily_domains:SSF56534,TIGRFAM_domain:TIGR01270																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	15	72031521	72031521	G	T	1	0	0	0	0	1	0	0	0	16883	1246	43	2		2	TPH2	12	72031521	Missense_Mutation	SNP	G	C3L-00368_TP	42474544	72031521	61243788	86	6873											
NOS1	0	.	GRCh38	chr12	117215313	117215313	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggcaagagggtccagttagGagctgaaaaccctgtggaaa	13	6	15	7	0	0	2	0	1	0	1	1	4	1	4	2	4	2	3	2	4	5	1	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.4403C>G	p.Ser1468Cys	p.S1468C	ENST00000618760	30/30	27	23	4	42	42	0	strelka-varscan-mutect	NOS1,missense_variant,p.Ser1468Cys,ENST00000618760,NM_001204218.1;NOS1,missense_variant,p.Ser1434Cys,ENST00000317775,NM_001204214.1,NM_000620.4,NM_001204213.1;NOS1,missense_variant,p.Ser1468Cys,ENST00000338101,;NOS1,missense_variant,p.Ser1433Cys,ENST00000344089,;	C	ENST00000618760	Transcript	missense_variant	5114/12283	4403/4407	1468/1468	S/C	tCc/tGc		1		-1	NOS1	HGNC	HGNC:7872	protein_coding	YES	CCDS55890.1	ENSP00000477999	P29475		UPI00001FBC10	NM_001204218.1	deleterious_low_confidence(0)		30/30																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	15	117215313	117215313	G	C	1	0	0	0	0	1	0	0	0	10586	1174	41	4		4	NOS1	12	117215313	Missense_Mutation	SNP	G	C3L-00368_TP	45183792	117215313	16059996	87	6874											
OR4E2	0	.	GRCh38	chr14	21665554	21665554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtactgttcactcactaGggcagaccttcttgactatt	8	13	10	10	0	3	2	2	1	1	1	3	2	3	2	1	3	1	3	1	3	3	7			C3L-00368_TP	C3L-00368_NB	G	G																c.472G>T	p.Gly158Trp	p.G158W	ENST00000408935	1/1	122	104	18	117	116	1	strelka-varscan-mutect	OR4E2,missense_variant,p.Gly158Trp,ENST00000408935,NM_001001912.2;OR4E1,downstream_gene_variant,,ENST00000610316,;	T	ENST00000408935	Transcript	missense_variant	472/942	472/942	158/313	G/W	Ggg/Tgg	COSM552534	1		1	OR4E2	HGNC	HGNC:8297	protein_coding	YES	CCDS41916.1	ENSP00000386195	Q8NGC2	A0A126GVR8	UPI0000EE498D	NM_001001912.2	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF160,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	15	21665554	21665554	G	T	1	0	0	0	0	1	0	0	0	11137	1000	35	2		2	OR4E2	14	21665554	Missense_Mutation	SNP	G	C3L-00368_TP		21665554	85378164	88	6875											
NOVA1	0	.	GRCh38	chr14	26448879	26448879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagctgcacccaagcccCtgactgctccattacagcct	10	7	8	16	0	0	1	0	1	0	0	1	2	1	2	5	1	6	3	5	1	3	1	novel		C3L-00368_TP	C3L-00368_NB	C	C																c.604G>A	p.Gly202Arg	p.G202R	ENST00000539517	5/5	216	175	41	200	200	0	strelka-varscan-mutect	NOVA1,missense_variant,p.Gly202Arg,ENST00000539517,NM_002515.2;NOVA1,missense_variant,p.Gly178Arg,ENST00000465357,NM_006489.2;NOVA1,missense_variant,p.Gly165Arg,ENST00000549571,;NOVA1,missense_variant,p.Gly161Arg,ENST00000449198,;NOVA1,missense_variant,p.Gly80Arg,ENST00000549146,;NOVA1,missense_variant,p.Gly56Arg,ENST00000347476,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,3_prime_UTR_variant,,ENST00000546546,;	T	ENST00000539517	Transcript	missense_variant	922/3912	604/1524	202/507	G/R	Ggg/Agg		1		-1	NOVA1	HGNC	HGNC:7886	protein_coding	YES	CCDS32061.1	ENSP00000438875	P51513		UPI000013D74E	NM_002515.2	deleterious(0)		5/5		PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF150,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	15	26448879	26448879	C	T	1	0	0	0	0	1	0	0	0	10600	681	24	3		3	NOVA1	14	26448879	Missense_Mutation	SNP	C	C3L-00368_TP	4783325	26448879	80594839	89	6876											
BEGAIN	0	.	GRCh38	chr14	100538100	100538100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgcatttccggggaggcctCcatggagctcggctccaagg	7	8	14	12	2	0	0	0	0	0	0	4	2	3	2	4	6	2	3	4	6	1	1	novel		C3L-00368_TP	C3L-00368_NB	C	C																c.1651G>A	p.Glu551Lys	p.E551K	ENST00000443071	6/6	56	44	12	68	68	0	strelka-varscan-mutect	BEGAIN,missense_variant,p.Glu770Lys,ENST00000637716,;BEGAIN,missense_variant,p.Glu581Lys,ENST00000637646,;BEGAIN,missense_variant,p.Glu551Lys,ENST00000443071,NM_001159531.1;BEGAIN,missense_variant,p.Glu551Lys,ENST00000355173,NM_020836.3;BEGAIN,downstream_gene_variant,,ENST00000556188,;BEGAIN,downstream_gene_variant,,ENST00000553553,;BEGAIN,downstream_gene_variant,,ENST00000554356,;BEGAIN,downstream_gene_variant,,ENST00000557378,;BEGAIN,downstream_gene_variant,,ENST00000554140,;CTD-2062F14.3,upstream_gene_variant,,ENST00000553301,;BEGAIN,non_coding_transcript_exon_variant,,ENST00000556751,;	T	ENST00000443071	Transcript	missense_variant	1797/2744	1651/1782	551/593	E/K	Gag/Aag		1		-1	BEGAIN	HGNC	HGNC:24163	protein_coding	YES	CCDS9962.1	ENSP00000411124	Q9BUH8		UPI00000710B1	NM_001159531.1	deleterious(0.01)		6/6		hmmpanther:PTHR28664,hmmpanther:PTHR28664:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	15	100538100	100538100	C	T	1	0	0	0	0	1	0	0	0	1545	864	30	3		3	BEGAIN	14	100538100	Missense_Mutation	SNP	C	C3L-00368_TP	74089221	100538100	6505618	90	6877											
BRF1	0	.	GRCh38	chr14	105228839	105228839	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttccgcagcgtggactCacacactttgaccacactga	9	9	7	16	2	2	2	1	2	1	0	3	3	3	3	3	1	1	1	3	1	0	2	novel		C3L-00368_TP	C3L-00368_NB	C	C																c.769G>T	p.Glu257Ter	p.E257*	ENST00000547530	7/18	204	174	30	177	177	0	strelka-varscan-mutect	BRF1,stop_gained,p.Glu53Ter,ENST00000392557,NM_145685.2;BRF1,stop_gained,p.Glu257Ter,ENST00000547530,NM_001519.3;BRF1,stop_gained,p.Glu230Ter,ENST00000379937,NM_001242788.1;BRF1,stop_gained,p.Glu19Ter,ENST00000446501,NM_001242789.1;BRF1,stop_gained,p.Glu142Ter,ENST00000440513,NM_001242786.1;BRF1,stop_gained,p.Glu142Ter,ENST00000327359,NM_001242787.1;BRF1,stop_gained,p.Glu53Ter,ENST00000549655,;BRF1,stop_gained,p.Glu53Ter,ENST00000619151,;BRF1,stop_gained,p.Glu53Ter,ENST00000379932,;BRF1,stop_gained,p.Glu53Ter,ENST00000551787,;BRF1,stop_gained,p.Glu53Ter,ENST00000552127,;BRF1,stop_gained,p.Glu111Ter,ENST00000546417,;BRF1,downstream_gene_variant,,ENST00000550208,;BRF1,upstream_gene_variant,,ENST00000547562,;	A	ENST00000547530	Transcript	stop_gained	828/3358	769/2034	257/677	E/*	Gag/Tag		1		-1	BRF1	HGNC	HGNC:11551	protein_coding	YES	CCDS10001.1	ENSP00000448387	Q92994	F8VS36	UPI0000136C55	NM_001519.3			7/18		hmmpanther:PTHR11618,hmmpanther:PTHR11618:SF4,Pfam_domain:PF00382,Gene3D:1.10.472.10,SMART_domains:SM00385,Superfamily_domains:SSF47954,Prints_domain:PR00685																	HIGH	1	SNV	1			1										PASS		rs1491416469	.												A	4	1	15	105228839	105228839	C	A	1	0	0	0	0	0	1	0	0	1680	835	29	2		2	BRF1	14	105228839	Nonsense_Mutation	SNP	C	C3L-00368_TP	4690739	105228839	1814879	91	6878											
RYR3	0	.	GRCh38	chr15	33586092	33586092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtcgatcatctccctgttGgataagcacgggcggaatca	11	9	11	10	3	3	0	2	0	1	0	5	3	3	2	1	3	1	2	1	3	3	2	rs761171982		C3L-00368_TP	C3L-00368_NB	G	G																c.1764G>T	p.Leu588Phe	p.L588F	ENST00000634891	16/104	210	183	27	200	200	0	strelka-varscan-mutect	RYR3,missense_variant,p.Leu588Phe,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Leu588Phe,ENST00000622037,;RYR3,missense_variant,p.Leu588Phe,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Leu588Phe,ENST00000389232,;RYR3,missense_variant,p.Leu588Phe,ENST00000634418,;	T	ENST00000634891	Transcript	missense_variant	1865/15591	1764/14613	588/4870	L/F	ttG/ttT	rs761171982	1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	deleterious(0)		16/104		Pfam_domain:PF01365,PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs761171982	.												T	3	4	15	33586092	33586092	G	T	1	0	0	0	0	1	0	0	0	14030	1339	47	2		2	RYR3	15	33586092	Missense_Mutation	SNP	G	C3L-00368_TP		33586092	68405097	92	6879											
ARIH1	0	.	GRCh38	chr15	72570175	72570175	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttatagtttctcttcatAggaatgtcccaaatgccatg	11	15	6	9	0	2	0	1	0	1	0	4	1	3	1	2	1	1	1	2	1	5	6	novel		C3L-00368_TP	C3L-00368_NB	A	A																c.1027-2A>T		p.X343_splice	ENST00000379887		108	90	18	90	90	0	strelka-varscan-mutect	ARIH1,splice_acceptor_variant,,ENST00000379887,NM_005744.3;ARIH1,non_coding_transcript_exon_variant,,ENST00000565950,;ARIH1,intron_variant,,ENST00000561987,;ARIH1,upstream_gene_variant,,ENST00000561770,;	T	ENST00000379887	Transcript	splice_acceptor_variant	-/21681	1027/1674	343/557				1		1	ARIH1	HGNC	HGNC:689	protein_coding	YES	CCDS10244.1	ENSP00000369217	Q9Y4X5		UPI0000033466	NM_005744.3				9/13																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	15	72570175	72570175	A	T	1	0	0	0	0	0	0	1	0	1059	434	15	4		4	ARIH1	15	72570175	Splice_Site	SNP	A	C3L-00368_TP	38984083	72570175	29421014	93	6880											
CHD2	0	.	GRCh38	chr15	92997371	92997377	+	Frame_Shift_Del	DEL	AAAACAG	AAAACAG	-																															atggaaactgggagttaattAaaacagacccagagcttaaa																								novel		C3L-00368_TP	C3L-00368_NB	AAAACAG	AAAACAG																c.3854_3860delAAACAGA	p.Lys1285ThrfsTer6	p.K1285Tfs*6	ENST00000394196	30/39	80	71	9	80	80	0	sindel-varindel-pindel	CHD2,frameshift_variant,p.Lys1285ThrfsTer6,ENST00000394196,NM_001271.3;CHD2,frameshift_variant,p.Lys1285ThrfsTer6,ENST00000626874,;CHD2,non_coding_transcript_exon_variant,,ENST00000636306,;CHD2,non_coding_transcript_exon_variant,,ENST00000635922,;CHD2,downstream_gene_variant,,ENST00000635856,;CHD2,frameshift_variant,p.Lys49ThrfsTer6,ENST00000625662,;CHD2,frameshift_variant,p.Lys24ThrfsTer6,ENST00000629104,;CHD2,3_prime_UTR_variant,,ENST00000636881,;CHD2,3_prime_UTR_variant,,ENST00000637789,;CHD2,non_coding_transcript_exon_variant,,ENST00000627185,;CHD2,downstream_gene_variant,,ENST00000637572,;	-	ENST00000394196	Transcript	frameshift_variant	4429-4435/9363	3853-3859/5487	1285-1287/1828	KTD/X	AAAACAGac/ac		1		1	CHD2	HGNC	HGNC:1917	protein_coding	YES	CCDS10374.2	ENSP00000377747	O14647		UPI0000E8A85C	NM_001271.3			30/39																			HIGH	1	deletion	5	1		1										PASS		.	.												-	7	5	15	92997371	92997371	AAAACAG	-	1	0	1	0	1	0	0	0	0	3084	363	13	0		0	CHD2	15	92997371	Frame_Shift_Del	DEL	AAAACAG	C3L-00368_TP	20427196	92997371	8993818	94	6881											
CAPN15	0	.	GRCh38	chr16	549011	549011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaacaatgtgagcttcgtgGatgacagcttccctcccggg	9	9	12	11	2	0	3	0	2	0	1	3	4	2	4	2	2	3	2	2	2	2	2	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.1468G>A	p.Asp490Asn	p.D490N	ENST00000219611	5/14	325	303	22	265	265	0	strelka-varscan-mutect	CAPN15,missense_variant,p.Asp490Asn,ENST00000219611,NM_005632.2;CAPN15,downstream_gene_variant,,ENST00000637507,;CAPN15,downstream_gene_variant,,ENST00000562370,;CAPN15,downstream_gene_variant,,ENST00000568988,;CAPN15,upstream_gene_variant,,ENST00000566977,;LA16c-366D1.3,intron_variant,,ENST00000565879,;CAPN15,upstream_gene_variant,,ENST00000565010,;	A	ENST00000219611	Transcript	missense_variant	1831/4744	1468/3261	490/1086	D/N	Gat/Aat		1		1	CAPN15	HGNC	HGNC:11182	protein_coding	YES	CCDS10410.1	ENSP00000219611	O75808		UPI0000071B68	NM_005632.2	deleterious(0)		5/14		Pfam_domain:PF00648,Prints_domain:PR00704,PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF294,SMART_domains:SM00230,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	15	549011	549011	G	A	1	0	0	0	0	1	0	0	0	2320	1174	41	3		3	CAPN15	16	549011	Missense_Mutation	SNP	G	C3L-00368_TP		549011	89789334	95	6882											
RBFOX1	0	.	GRCh38	chr16	7518353	7518353	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactccgagcagagcccggcGgacacgagcgctcagaccgt	9	3	13	16	6	1	2	1	0	0	2	2	5	2	3	3	2	3	2	3	2	0	0			C3L-00368_TP	C3L-00368_NB	G	G																c.363G>A	p.=	p.A121A	ENST00000422070	5/16	145	111	34	113	113	0	strelka-mutect	RBFOX1,synonymous_variant,p.=,ENST00000550418,NM_018723.3;RBFOX1,synonymous_variant,p.=,ENST00000340209,;RBFOX1,synonymous_variant,p.=,ENST00000620507,;RBFOX1,synonymous_variant,p.=,ENST00000547372,;RBFOX1,synonymous_variant,p.=,ENST00000355637,NM_145893.2;RBFOX1,synonymous_variant,p.=,ENST00000311745,NM_145891.2;RBFOX1,synonymous_variant,p.=,ENST00000553186,NM_001142333.1;RBFOX1,synonymous_variant,p.=,ENST00000547605,;RBFOX1,synonymous_variant,p.=,ENST00000422070,NM_001308117.1;RBFOX1,synonymous_variant,p.=,ENST00000535565,;RBFOX1,synonymous_variant,p.=,ENST00000436368,NM_145892.2;RBFOX1,synonymous_variant,p.=,ENST00000547338,NM_001142334.1;RBFOX1,synonymous_variant,p.=,ENST00000552089,;RBFOX1,synonymous_variant,p.=,ENST00000551752,;RBFOX1,synonymous_variant,p.=,ENST00000570626,;RBFOX1,non_coding_transcript_exon_variant,,ENST00000569889,;	A	ENST00000422070	Transcript	synonymous_variant	559/1684	363/1278	121/425	A	gcG/gcA	COSM4062893,COSM4062894,COSM4062895,COSM4062896	1		1	RBFOX1	HGNC	HGNC:18222	protein_coding	YES	CCDS76818.1	ENSP00000391269		B7Z1U7	UPI0001914C99	NM_001308117.1			5/16		hmmpanther:PTHR15597:SF26,hmmpanther:PTHR15597,PIRSF_domain:PIRSF037932											1,1,1,1						LOW	1	SNV	2		1,1,1,1	1										PASS		rs1490574094	.												A	2	1	15	7518353	7518353	G	A	1	0	0	0	0	0	0	0	1	13271	1103	39	1		1	RBFOX1	16	7518353	Silent	SNP	G	C3L-00368_TP	6969342	7518353	82819992	96	6883											
C16orf46	0	.	GRCh38	chr16	81061521	81061521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggggaggatggcgtgtcGttgaccatagggtgtttggc	7	10	19	5	2	0	1	0	1	0	0	1	4	0	3	1	6	0	2	1	6	2	3	rs537023465		C3L-00368_TP	C3L-00368_NB	G	G																c.828C>A	p.Asn276Lys	p.N276K	ENST00000299578	4/4	110	103	7	141	141	0	strelka-varscan-mutect	C16orf46,missense_variant,p.Asn276Lys,ENST00000378611,NM_001100873.1;C16orf46,missense_variant,p.Asn276Lys,ENST00000299578,NM_152337.2;C16orf46,downstream_gene_variant,,ENST00000565253,;RP11-303E16.8,intron_variant,,ENST00000564536,;C16orf46,downstream_gene_variant,,ENST00000444657,;	T	ENST00000299578	Transcript	missense_variant	1064/1605	828/1188	276/395	N/K	aaC/aaA	rs537023465,COSM3402494,COSM3402495	1		-1	C16orf46	HGNC	HGNC:26525	protein_coding	YES	CCDS10932.1	ENSP00000299578	Q6P387		UPI000013E5BE	NM_152337.2	tolerated(1)		4/4		hmmpanther:PTHR36869:SF1,hmmpanther:PTHR36869,Pfam_domain:PF15032											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs537023465	.												T	3	4	15	81061521	81061521	G	T	1	0	0	0	0	1	0	0	0	1856	1136	40	1		1	C16orf46	16	81061521	Missense_Mutation	SNP	G	C3L-00368_TP	73543168	81061521	9276824	97	6884											
ZZEF1	0	.	GRCh38	chr17	4021155	4021155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatattctggtgggctcatCcaggccctcaagggggtcca	8	9	12	12	0	3	0	2	0	1	0	5	0	5	0	3	5	0	1	3	5	2	2	novel		C3L-00368_TP	C3L-00368_NB	C	C																c.7378G>T	p.Asp2460Tyr	p.D2460Y	ENST00000381638	45/55	78	68	10	87	87	0	strelka-varscan-mutect	ZZEF1,missense_variant,p.Asp2460Tyr,ENST00000381638,NM_015113.3;ZZEF1,downstream_gene_variant,,ENST00000573183,;ZZEF1,upstream_gene_variant,,ENST00000573536,;ZZEF1,downstream_gene_variant,,ENST00000571436,;ZZEF1,downstream_gene_variant,,ENST00000573606,;ZZEF1,upstream_gene_variant,,ENST00000575428,;ZZEF1,upstream_gene_variant,,ENST00000572831,;	A	ENST00000381638	Transcript	missense_variant	7503/11456	7378/8886	2460/2961	D/Y	Gat/Tat		1		-1	ZZEF1	HGNC	HGNC:29027	protein_coding	YES	CCDS11043.1	ENSP00000371051	O43149		UPI00004569F7	NM_015113.3	deleterious(0)		45/55		hmmpanther:PTHR22772:SF4,hmmpanther:PTHR22772																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	15	4021155	4021155	C	A	1	0	0	0	0	1	0	0	0	18859	855	30	2		2	ZZEF1	17	4021155	Missense_Mutation	SNP	C	C3L-00368_TP		4021155	79236286	98	6885											
ALOXE3	0	.	GRCh38	chr17	8096689	8096700	+	In_Frame_Del	DEL	CCTGGTTCCGCT	CCTGGTTCCGCT	-																															ggtgtagggcagtgccagacCctggttccgctcctggatgt																								novel		C3L-00368_TP	C3L-00368_NB	CCTGGTTCCGCT	CCTGGTTCCGCT																c.2459_2470delAGCGGAACCAGG	p.Glu820_Gln823del	p.E820_Q823del	ENST00000318227	16/16	244	210	34	308	308	0	sindel-varindel-pindel	ALOXE3,inframe_deletion,p.Glu844_Gln847del,ENST00000380149,;ALOXE3,inframe_deletion,p.Glu688_Gln691del,ENST00000448843,NM_021628.2;ALOXE3,inframe_deletion,p.Glu820_Gln823del,ENST00000318227,NM_001165960.1;ALOXE3,non_coding_transcript_exon_variant,,ENST00000583808,;	-	ENST00000318227	Transcript	inframe_deletion	2728-2739/3053	2459-2470/2532	820-824/843	ERNQG/G	gAGCGGAACCAGGgt/ggt		1		-1	ALOXE3	HGNC	HGNC:13743	protein_coding	YES	CCDS54084.1	ENSP00000314879	Q9BYJ1		UPI0000EE63AA	NM_001165960.1			16/16		Gene3D:1.20.245.10,Pfam_domain:PF00305,PROSITE_profiles:PS51393,hmmpanther:PTHR11771,hmmpanther:PTHR11771:SF62,Superfamily_domains:SSF48484																	MODERATE	1	deletion	2			1										PASS		.	.												-	7	5	15	8096689	8096689	CCTGGTTCCGCT	-	1	0	1	0	1	0	0	0	0	642	623	22	0		0	ALOXE3	17	8096689	In_Frame_Del	DEL	CCTGGTTCCGCT	C3L-00368_TP	4075534	8096689	75160752	99	6886											
DSG3	0	.	GRCh38	chr18	31460919	31460919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgaatgtaatattaaagtGaaagatgtcaacgataactt	17	13	8	3	1	1	3	1	2	0	1	1	4	1	3	0	0	2	1	0	0	8	5	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.771G>A	p.=	p.V257V	ENST00000257189	7/16	96	82	14	113	113	0	strelka-varscan-mutect	DSG3,synonymous_variant,p.=,ENST00000257189,NM_001944.2;	A	ENST00000257189	Transcript	synonymous_variant	854/5525	771/3000	257/999	V	gtG/gtA		1		1	DSG3	HGNC	HGNC:3050	protein_coding	YES	CCDS11898.1	ENSP00000257189	P32926		UPI000013CF4B	NM_001944.2			7/16		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF3,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	15	31460919	31460919	G	A	1	0	0	0	0	0	0	0	1	4599	1277	45	3		3	DSG3	18	31460919	Silent	SNP	G	C3L-00368_TP		31460919	48912366	100	6887											
GRIN3B	0	.	GRCh38	chr19	1009553	1009553	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgcttcaggccagagcggCccccgcggaggccccaccac	6	4	12	19	3	1	1	1	0	0	1	1	2	1	2	6	4	2	1	6	4	0	2	rs573396231		C3L-00368_TP	C3L-00368_NB	C	C																c.3083C>G	p.Ala1028Gly	p.A1028G	ENST00000234389	9/9	40	35	5	56	55	1	varscan-mutect	GRIN3B,missense_variant,p.Ala1028Gly,ENST00000234389,NM_138690.1;TMEM259,downstream_gene_variant,,ENST00000356663,NM_001033026.1;TMEM259,downstream_gene_variant,,ENST00000333175,NM_033420.3;TMEM259,downstream_gene_variant,,ENST00000592590,;TMEM259,downstream_gene_variant,,ENST00000586285,;TMEM259,downstream_gene_variant,,ENST00000586250,;LLNLR-284B4.1,upstream_gene_variant,,ENST00000610701,;GRIN3B,downstream_gene_variant,,ENST00000588335,;TMEM259,downstream_gene_variant,,ENST00000586704,;TMEM259,downstream_gene_variant,,ENST00000593068,;TMEM259,downstream_gene_variant,,ENST00000592618,;TMEM259,downstream_gene_variant,,ENST00000592052,;TMEM259,downstream_gene_variant,,ENST00000589055,;TMEM259,downstream_gene_variant,,ENST00000607316,;TMEM259,downstream_gene_variant,,ENST00000589831,;	G	ENST00000234389	Transcript	missense_variant	3102/3281	3083/3132	1028/1043	A/G	gCc/gGc	rs573396231	1		1	GRIN3B	HGNC	HGNC:16768	protein_coding	YES	CCDS32861.1	ENSP00000234389	O60391		UPI000004064B	NM_138690.1	tolerated_low_confidence(0.14)		9/9		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs573396231	.												G	3	3	15	1009553	1009553	C	G	1	0	0	0	0	1	0	0	0	6666	739	26	4		4	GRIN3B	19	1009553	Missense_Mutation	SNP	C	C3L-00368_TP		1009553	57608063	101	6888											
DOT1L	0	.	GRCh38	chr19	2191114	2191114	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accactcggtgaccgaccccGagaagctcaacaactacgag	13	4	9	15	4	1	2	1	1	0	1	2	5	1	2	4	1	4	1	4	1	4	1	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.367G>T	p.Glu123Ter	p.E123*	ENST00000398665	5/28	373	305	68	430	429	1	strelka-varscan-mutect	DOT1L,stop_gained,p.Glu123Ter,ENST00000398665,NM_032482.2;DOT1L,stop_gained,p.Glu99Ter,ENST00000452696,;DOT1L,3_prime_UTR_variant,,ENST00000478937,;	T	ENST00000398665	Transcript	stop_gained	403/7436	367/4614	123/1537	E/*	Gag/Tag		1		1	DOT1L	HGNC	HGNC:24948	protein_coding	YES	CCDS42460.1	ENSP00000381657	Q8TEK3		UPI000002A839	NM_032482.2			5/28		PROSITE_profiles:PS51569,hmmpanther:PTHR21451,hmmpanther:PTHR21451:SF0,Pfam_domain:PF08123,PIRSF_domain:PIRSF037123,Superfamily_domains:SSF53335																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	15	2191114	2191114	G	T	1	0	0	0	0	0	1	0	0	4523	1059	37	1		1	DOT1L	19	2191114	Nonsense_Mutation	SNP	G	C3L-00368_TP	1181561	2191114	56426502	102	6889											
MUC16	0	.	GRCh38	chr19	8972534	8972534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaggcaaaggcctttgatgGgcttgaggaggcagagacag	11	7	17	6	0	0	4	0	3	0	1	0	6	0	5	1	5	0	3	1	5	1	2	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.8605C>A	p.Pro2869Thr	p.P2869T	ENST00000397910	1/84	103	86	17	126	126	0	strelka-varscan-mutect	MUC16,missense_variant,p.Pro2869Thr,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	8809/43816	8605/43524	2869/14507	P/T	Cca/Aca		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	15	8972534	8972534	G	T	1	0	0	0	0	1	0	0	0	9972	1232	43	2		2	MUC16	19	8972534	Missense_Mutation	SNP	G	C3L-00368_TP	6781420	8972534	49645082	103	6890											
PSG11	0	.	GRCh38	chr19	43010012	43010012	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgctacgttggattatTgaaagcaaaagttcctaatc	12	12	9	8	2	0	1	0	1	0	0	2	2	1	2	1	2	3	5	1	2	6	6	rs201933852		C3L-00368_TP	C3L-00368_NB	T	T																c.994A>T	p.Asn332Tyr	p.N332Y	ENST00000320078	5/6	202	161	41	223	223	0	strelka-varscan-mutect	PSG11,missense_variant,p.Asn332Tyr,ENST00000320078,NM_002785.2;PSG11,missense_variant,p.Asn210Tyr,ENST00000403486,NM_203287.1,NM_001113410.1;PSG11,missense_variant,p.Asn210Tyr,ENST00000306322,;CTC-490G23.6,intron_variant,,ENST00000635495,;PSG11,downstream_gene_variant,,ENST00000599976,;PSG11,3_prime_UTR_variant,,ENST00000593983,;PSG11,non_coding_transcript_exon_variant,,ENST00000593994,;PSG11,downstream_gene_variant,,ENST00000595138,;PSG11,downstream_gene_variant,,ENST00000594655,;	A	ENST00000320078	Transcript	missense_variant	1134/1575	994/1008	332/335	N/Y	Aat/Tat	rs201933852	1		-1	PSG11	HGNC	HGNC:9516	protein_coding	YES	CCDS12614.2	ENSP00000319140	Q9UQ72		UPI000004EE8C	NM_002785.2	tolerated(0.07)		5/6																			MODERATE	1	SNV	2			1										PASS		rs201933852	.												A	3	1	15	43010012	43010012	T	A	1	0	0	0	0	1	0	0	0	12805	1812	63	4		4	PSG11	19	43010012	Missense_Mutation	SNP	T	C3L-00368_TP	34037478	43010012	15607604	104	6891											
KIAA1755	0	.	GRCh38	chr20	38222504	38222504	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcagcctggccagggTggctccaccttcccgctgga	5	8	13	15	1	0	0	0	0	0	0	2	1	2	1	5	4	3	4	5	4	0	1	novel		C3L-00368_TP	C3L-00368_NB	T	T																c.2362A>C	p.Thr788Pro	p.T788P	ENST00000279024	10/14	269	218	51	268	268	0	strelka-varscan-mutect	KIAA1755,missense_variant,p.Thr788Pro,ENST00000279024,NM_001029864.1;KIAA1755,missense_variant,p.Thr87Pro,ENST00000435901,;KIAA1755,downstream_gene_variant,,ENST00000496900,;KIAA1755,non_coding_transcript_exon_variant,,ENST00000484362,;KIAA1755,upstream_gene_variant,,ENST00000460881,;KIAA1755,upstream_gene_variant,,ENST00000487506,;	G	ENST00000279024	Transcript	missense_variant	2634/6429	2362/3603	788/1200	T/P	Acc/Ccc		1		-1	KIAA1755	HGNC	HGNC:29372	protein_coding	YES	CCDS33467.1	ENSP00000279024	Q5JYT7		UPI000041AADF	NM_001029864.1	deleterious(0.01)		10/14		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF125																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	15	38222504	38222504	T	G	1	0	0	0	0	1	0	0	0	8128	1696	59	5		5	KIAA1755	20	38222504	Missense_Mutation	SNP	T	C3L-00368_TP		38222504	26221663	105	6892											
ADA	0	.	GRCh38	chr20	44629112	44629112	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgagcggcttgtccatGccaatgacgttcagcagccc	8	8	13	12	2	1	2	1	2	0	0	2	2	2	2	3	2	4	3	3	2	1	2			C3L-00368_TP	C3L-00368_NB	G	G																c.153C>A	p.=	p.G51G	ENST00000372874	3/12	426	352	74	392	390	2	strelka-varscan-mutect	ADA,synonymous_variant,p.=,ENST00000372874,NM_000022.2;ADA,synonymous_variant,p.=,ENST00000537820,;PKIG,downstream_gene_variant,,ENST00000372887,;ADA,non_coding_transcript_exon_variant,,ENST00000492931,;ADA,non_coding_transcript_exon_variant,,ENST00000536076,;ADA,upstream_gene_variant,,ENST00000464097,;ADA,synonymous_variant,p.=,ENST00000536532,;ADA,synonymous_variant,p.=,ENST00000539235,;ADA,non_coding_transcript_exon_variant,,ENST00000545776,;	T	ENST00000372874	Transcript	synonymous_variant	288/1539	153/1092	51/363	G	ggC/ggA	COSM1495078	1		-1	ADA	HGNC	HGNC:186	protein_coding	YES	CCDS13335.1	ENSP00000361965	P00813	A0A0S2Z381	UPI000000D982	NM_000022.2			3/12		HAMAP:MF_00540,hmmpanther:PTHR11409:SF43,hmmpanther:PTHR11409,Gene3D:3.20.20.140,TIGRFAM_domain:TIGR01430,Pfam_domain:PF00962,Superfamily_domains:SSF51556											1						LOW	1	SNV	1		1	1										PASS		rs1018302697	.												T	2	4	15	44629112	44629112	G	T	1	0	0	0	0	0	0	0	1	274	1306	46	2		2	ADA	20	44629112	Silent	SNP	G	C3L-00368_TP	6406608	44629112	19815055	106	6893											
CASS4	0	.	GRCh38	chr20	56452755	56452755	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagaccatctccaactccTaccgcatcctgcttgaaaca	11	9	5	16	1	1	2	0	1	1	1	4	2	3	2	5	0	5	3	5	0	3	2	novel		C3L-00368_TP	C3L-00368_NB	T	T																c.1579T>G	p.Tyr527Asp	p.Y527D	ENST00000360314	6/7	224	178	46	235	235	0	strelka-varscan-mutect	CASS4,missense_variant,p.Tyr527Asp,ENST00000360314,NM_001164116.1,NM_020356.3,NM_001164114.1;CASS4,intron_variant,,ENST00000434344,NM_001164115.1;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;	G	ENST00000360314	Transcript	missense_variant	1804/2619	1579/2361	527/786	Y/D	Tac/Gac		1		1	CASS4	HGNC	HGNC:15878	protein_coding	YES	CCDS33492.1	ENSP00000353462	Q9NQ75		UPI00001285DB	NM_001164116.1,NM_020356.3,NM_001164114.1	deleterious(0)		6/7		hmmpanther:PTHR10654:SF19,hmmpanther:PTHR10654,Pfam_domain:PF08824																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	15	56452755	56452755	T	G	1	0	0	0	0	1	0	0	0	2382	1522	53	5		5	CASS4	20	56452755	Missense_Mutation	SNP	T	C3L-00368_TP	11823643	56452755	7991412	107	6894											
NEFH	0	.	GRCh38	chr22	29480945	29480945	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcgctgcaggaggagtgcgGctacctgcggcgccaccacc	6	4	16	15	4	0	0	0	0	0	0	0	2	0	2	4	5	4	3	4	5	1	1	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.683G>T	p.Gly228Val	p.G228V	ENST00000310624	1/4	308	256	52	377	377	0	strelka-varscan-mutect	NEFH,missense_variant,p.Gly228Val,ENST00000310624,NM_021076.3;AC000035.3,non_coding_transcript_exon_variant,,ENST00000634116,;RFPL1S,upstream_gene_variant,,ENST00000461286,;RFPL1S,upstream_gene_variant,,ENST00000419368,;	T	ENST00000310624	Transcript	missense_variant	716/3783	683/3063	228/1020	G/V	gGc/gTc		1		1	NEFH	HGNC	HGNC:7737	protein_coding	YES	CCDS13858.1	ENSP00000311997	P12036		UPI00001AEF71	NM_021076.3	tolerated(0.09)		1/4		hmmpanther:PTHR23214,hmmpanther:PTHR23214:SF1,Pfam_domain:PF00038,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		rs1359147057	.												T	3	4	15	29480945	29480945	G	T	1	0	0	0	0	1	0	0	0	10342	1203	42	2		2	NEFH	22	29480945	Missense_Mutation	SNP	G	C3L-00368_TP		29480945	21337523	108	6895											
PARVB	0	.	GRCh38	chr22	44024438	44024438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcaccctggccaggaagcgGagggcgcgcgagggtgagtg	7	3	21	10	4	0	1	0	1	0	0	0	4	0	3	2	6	1	1	2	6	1	0	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.99G>A	p.=	p.R33R	ENST00000338758	1/13	52	47	5	42	42	0	strelka-mutect	PARVB,synonymous_variant,p.=,ENST00000338758,NM_013327.4;PARVB,intron_variant,,ENST00000406477,NM_001003828.2;PARVB,upstream_gene_variant,,ENST00000619710,NM_001243386.1;PARVB,non_coding_transcript_exon_variant,,ENST00000402876,;	A	ENST00000338758	Transcript	synonymous_variant	162/5429	99/1095	33/364	R	cgG/cgA		1		1	PARVB	HGNC	HGNC:14653	protein_coding		CCDS14056.1	ENSP00000342492	Q9HBI1		UPI000013132A	NM_013327.4			1/13		PIRSF_domain:PIRSF039131,hmmpanther:PTHR12114,hmmpanther:PTHR12114:SF7,Superfamily_domains:SSF47576																	LOW		SNV	1			1										PASS		.	.												A	2	1	15	44024438	44024438	G	A	1	0	0	0	0	0	0	0	1	11550	1161	41	3		3	PARVB	22	44024438	Silent	SNP	G	C3L-00368_TP	14543493	44024438	6794030	109	6896											
CFAP47	0	.	GRCh38	chrX	35948314	35948314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgctcttattccctatagGcatatttaaggcagaatacc	12	13	6	10	0	1	1	0	0	1	1	2	1	2	1	2	2	2	3	2	2	7	8	novel		C3L-00368_TP	C3L-00368_NB	G	G																c.518G>T	p.Gly173Val	p.G173V	ENST00000297866	4/16	45	35	10	83	83	0	strelka-varscan-mutect	CFAP47,missense_variant,p.Gly173Val,ENST00000378653,NM_001304548.1;CFAP47,missense_variant,p.Gly173Val,ENST00000297866,NM_152632.3;CFAP47,missense_variant,p.Gly173Val,ENST00000493930,;	T	ENST00000297866	Transcript	missense_variant,splice_region_variant	584/3608	518/2931	173/976	G/V	gGc/gTc		1		1	CFAP47	HGNC	HGNC:26708	protein_coding	YES	CCDS14237.2	ENSP00000297866	Q6ZTR5		UPI000022DD27	NM_152632.3	deleterious(0)		4/16		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF24																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	15	35948314	35948314	G	T	1	0	0	0	0	1	0	0	0	3022	1217	42	2		2	CFAP47	23	35948314	Missense_Mutation	SNP	G	C3L-00368_TP		35948314	120092581	110	6897											
OR13H1	0	.	GRCh38	chrX	131544385	131544385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctcaaacgagtgtctcCttggctttggccacagcaga	8	11	11	11	1	2	1	1	0	1	1	3	2	2	1	2	3	2	3	2	3	1	3			C3L-00368_TP	C3L-00368_NB	C	C																c.312C>T	p.=	p.S104S	ENST00000338616	1/1	156	125	31	196	196	0	strelka-varscan-mutect	OR13H1,synonymous_variant,p.=,ENST00000338616,NM_001004486.1;IGSF1,intron_variant,,ENST00000370904,;	T	ENST00000338616	Transcript	synonymous_variant	312/927	312/927	104/308	S	tcC/tcT	COSM4106690	1		1	OR13H1	HGNC	HGNC:14755	protein_coding	YES	CCDS35396.1	ENSP00000340748	Q8NG92	A0A126GW70	UPI000003CAC9	NM_001004486.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF76,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	15	131544385	131544385	C	T	1	0	0	0	0	0	0	0	1	11019	668	24	3		3	OR13H1	23	131544385	Silent	SNP	C	C3L-00368_TP	95596071	131544385	24496510	111	6898											
MIB2	0	.	GRCh38	chr1	1629648	1629648	+	Missense_Mutation	SNP	G	G	A																															cctcttcgcagagtgcgcgcGcaggatgaagaagtgcatca																								novel		C3L-00412_TP	C3L-00412_NB	G	G																c.2918G>A	p.Arg973His	p.R973H	ENST00000505820	19/20	56	50	6	84	84	0	strelka-varscan-mutect	MIB2,missense_variant,p.Arg969His,ENST00000520777,NM_001170686.1;MIB2,missense_variant,p.Arg872His,ENST00000504599,;MIB2,missense_variant,p.Arg973His,ENST00000505820,NM_080875.2;MIB2,missense_variant,p.Arg959His,ENST00000355826,NM_001170687.1;MIB2,missense_variant,p.Arg908His,ENST00000518681,NM_001170688.1;MIB2,missense_variant,p.Arg822His,ENST00000378708,;MIB2,missense_variant,p.Arg732His,ENST00000514234,;MIB2,missense_variant,p.Arg235His,ENST00000483015,;MIB2,synonymous_variant,p.=,ENST00000378712,NM_001170689.1;MMP23B,upstream_gene_variant,,ENST00000356026,NM_006983.1;MMP23B,upstream_gene_variant,,ENST00000378675,;MMP23B,upstream_gene_variant,,ENST00000479814,;MIB2,downstream_gene_variant,,ENST00000510793,;MMP23B,upstream_gene_variant,,ENST00000503792,;MMP23B,upstream_gene_variant,,ENST00000435358,;MIB2,downstream_gene_variant,,ENST00000503789,;MMP23B,upstream_gene_variant,,ENST00000472264,;MIB2,downstream_gene_variant,,ENST00000512004,;MIB2,3_prime_UTR_variant,,ENST00000487053,;MIB2,3_prime_UTR_variant,,ENST00000489635,;MIB2,3_prime_UTR_variant,,ENST00000506488,;MIB2,non_coding_transcript_exon_variant,,ENST00000479659,;MIB2,non_coding_transcript_exon_variant,,ENST00000511502,;MIB2,non_coding_transcript_exon_variant,,ENST00000511910,;MIB2,non_coding_transcript_exon_variant,,ENST00000470373,;MIB2,downstream_gene_variant,,ENST00000507229,;MMP23B,upstream_gene_variant,,ENST00000512731,;MIB2,downstream_gene_variant,,ENST00000473511,;MIB2,downstream_gene_variant,,ENST00000464570,;MIB2,downstream_gene_variant,,ENST00000505370,;MIB2,downstream_gene_variant,,ENST00000502470,;MIB2,downstream_gene_variant,,ENST00000467597,;MMP23B,upstream_gene_variant,,ENST00000489782,;MIB2,downstream_gene_variant,,ENST00000514363,;MIB2,downstream_gene_variant,,ENST00000508148,;MIB2,downstream_gene_variant,,ENST00000486072,;MMP23B,upstream_gene_variant,,ENST00000490017,;MMP23B,upstream_gene_variant,,ENST00000486400,;	A	ENST00000505820	Transcript	missense_variant	2935/3305	2918/3213	973/1070	R/H	cGc/cAc		1		1	MIB2	HGNC	HGNC:30577	protein_coding	YES	CCDS41224.2	ENSP00000426103	Q96AX9		UPI0001C0B37A	NM_080875.2	tolerated(0.37)		19/20		PROSITE_profiles:PS50089,hmmpanther:PTHR24202:SF4,hmmpanther:PTHR24202,Pfam_domain:PF13920,SMART_domains:SM00184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	16	1629648	1629648	G	A	1	0	0	0	0	1	0	0	0	9524	1087	38	1		1	MIB2	1	1629648	Missense_Mutation	SNP	G	C3L-00412_TP		1629648	247326774	1	6899	158	2									
MIB2	0	.	GRCh38	chr1	1629650	1629650	+	Missense_Mutation	SNP	A	A	T																															tcttcgcagagtgcgcgcgcAggatgaagaagtgcatcagg																								novel		C3L-00412_TP	C3L-00412_NB	A	A																c.2920A>T	p.Arg974Trp	p.R974W	ENST00000505820	19/20	55	49	6	84	84	0	strelka-varscan-mutect	MIB2,missense_variant,p.Arg970Trp,ENST00000520777,NM_001170686.1;MIB2,missense_variant,p.Arg873Trp,ENST00000504599,;MIB2,missense_variant,p.Arg974Trp,ENST00000505820,NM_080875.2;MIB2,missense_variant,p.Arg960Trp,ENST00000355826,NM_001170687.1;MIB2,missense_variant,p.Arg909Trp,ENST00000518681,NM_001170688.1;MIB2,missense_variant,p.Arg823Trp,ENST00000378708,;MIB2,missense_variant,p.Gln733Leu,ENST00000378712,NM_001170689.1;MIB2,missense_variant,p.Arg733Trp,ENST00000514234,;MIB2,missense_variant,p.Arg236Trp,ENST00000483015,;MMP23B,upstream_gene_variant,,ENST00000356026,NM_006983.1;MMP23B,upstream_gene_variant,,ENST00000378675,;MMP23B,upstream_gene_variant,,ENST00000479814,;MIB2,downstream_gene_variant,,ENST00000510793,;MMP23B,upstream_gene_variant,,ENST00000503792,;MMP23B,upstream_gene_variant,,ENST00000435358,;MIB2,downstream_gene_variant,,ENST00000503789,;MMP23B,upstream_gene_variant,,ENST00000472264,;MIB2,downstream_gene_variant,,ENST00000512004,;MIB2,3_prime_UTR_variant,,ENST00000487053,;MIB2,3_prime_UTR_variant,,ENST00000489635,;MIB2,3_prime_UTR_variant,,ENST00000506488,;MIB2,non_coding_transcript_exon_variant,,ENST00000479659,;MIB2,non_coding_transcript_exon_variant,,ENST00000511502,;MIB2,non_coding_transcript_exon_variant,,ENST00000511910,;MIB2,non_coding_transcript_exon_variant,,ENST00000470373,;MIB2,downstream_gene_variant,,ENST00000507229,;MMP23B,upstream_gene_variant,,ENST00000512731,;MIB2,downstream_gene_variant,,ENST00000473511,;MIB2,downstream_gene_variant,,ENST00000464570,;MIB2,downstream_gene_variant,,ENST00000505370,;MIB2,downstream_gene_variant,,ENST00000502470,;MIB2,downstream_gene_variant,,ENST00000467597,;MMP23B,upstream_gene_variant,,ENST00000489782,;MIB2,downstream_gene_variant,,ENST00000514363,;MIB2,downstream_gene_variant,,ENST00000508148,;MIB2,downstream_gene_variant,,ENST00000486072,;MMP23B,upstream_gene_variant,,ENST00000490017,;MMP23B,upstream_gene_variant,,ENST00000486400,;	T	ENST00000505820	Transcript	missense_variant	2937/3305	2920/3213	974/1070	R/W	Agg/Tgg		1		1	MIB2	HGNC	HGNC:30577	protein_coding	YES	CCDS41224.2	ENSP00000426103	Q96AX9		UPI0001C0B37A	NM_080875.2	deleterious(0)		19/20		PROSITE_profiles:PS50089,hmmpanther:PTHR24202:SF4,hmmpanther:PTHR24202,Pfam_domain:PF13920,SMART_domains:SM00184																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	16	1629650	1629650	A	T	1	0	0	0	0	1	0	0	0	9524	188	7	4		4	MIB2	1	1629650	Missense_Mutation	SNP	A	C3L-00412_TP	2	1629650	247326772	2	6900	158	2									
CROCC	0	.	GRCh38	chr1	16929929	16929929	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggcagagcgtggagttgcgGaggcagctgcaggaggagca	9	4	20	8	3	0	1	0	0	0	1	0	5	0	5	0	6	5	6	0	6	0	1	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.435G>T	p.=	p.R145R	ENST00000375541	4/37	112	105	7	121	120	1	strelka-varscan-mutect	CROCC,synonymous_variant,p.=,ENST00000375541,NM_014675.4;CROCC,synonymous_variant,p.=,ENST00000467938,;CROCC,intron_variant,,ENST00000445545,;CROCC,intron_variant,,ENST00000466256,;CROCC,upstream_gene_variant,,ENST00000492631,;	T	ENST00000375541	Transcript	synonymous_variant	504/6656	435/6054	145/2017	R	cgG/cgT		1		1	CROCC	HGNC	HGNC:21299	protein_coding	YES	CCDS30616.1	ENSP00000364691	Q5TZA2		UPI000042B0BB	NM_014675.4			4/37		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF17																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	16	16929929	16929929	G	T	1	0	0	0	0	0	0	0	1	3694	1161	41	2		2	CROCC	1	16929929	Silent	SNP	G	C3L-00412_TP	15300279	16929929	232026493	3	6901											
TRIM63	0	.	GRCh38	chr1	26058416	26058416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaaggtggctcccccaggctCgtccagggactggatggcag	7	6	16	12	1	0	0	0	0	0	0	3	3	2	2	3	6	0	3	3	6	1	0	rs61749355		C3L-00412_TP	C3L-00412_NB	C	C																c.805G>C	p.Glu269Gln	p.E269Q	ENST00000374272	5/9	190	176	14	188	188	0	strelka-varscan-mutect	TRIM63,missense_variant,p.Glu269Gln,ENST00000374272,NM_032588.3;TRIM63,downstream_gene_variant,,ENST00000483052,;	G	ENST00000374272	Transcript	missense_variant	944/1770	805/1062	269/353	E/Q	Gag/Cag	rs61749355	1		-1	TRIM63	HGNC	HGNC:16007	protein_coding	YES	CCDS273.1	ENSP00000363390	Q969Q1		UPI00000437F6	NM_032588.3	tolerated(0.08)		5/9		PROSITE_profiles:PS51262,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF279												22821932					MODERATE	1	SNV	1			1										PASS		rs61749355	.												G	3	3	16	26058416	26058416	C	G	1	0	0	0	0	1	0	0	0	17030	893	31	4		4	TRIM63	1	26058416	Missense_Mutation	SNP	C	C3L-00412_TP	9128487	26058416	222898006	4	6902											
C8B	0	.	GRCh38	chr1	56931852	56931852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctaggccttgggatccaaCaggacagatgcagtcacagc	11	6	13	11	0	1	1	1	0	0	1	2	3	2	3	2	4	3	2	2	4	2	2	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.1579G>T	p.Val527Phe	p.V527F	ENST00000371237	11/12	358	322	36	422	422	0	strelka-varscan-mutect	C8B,missense_variant,p.Val475Phe,ENST00000543257,NM_001278543.1;C8B,missense_variant,p.Val465Phe,ENST00000535057,NM_001278544.1;C8B,missense_variant,p.Val527Phe,ENST00000371237,NM_000066.3;C8B,non_coding_transcript_exon_variant,,ENST00000465658,;	A	ENST00000371237	Transcript	missense_variant	1646/2037	1579/1776	527/591	V/F	Gtt/Ttt		1		-1	C8B	HGNC	HGNC:1353	protein_coding	YES	CCDS30730.1	ENSP00000360281	P07358		UPI000013C9B2	NM_000066.3	tolerated(0.41)		11/12		hmmpanther:PTHR19325:SF385,hmmpanther:PTHR19325																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	16	56931852	56931852	C	A	1	0	0	0	0	1	0	0	0	2151	478	17	2		2	C8B	1	56931852	Missense_Mutation	SNP	C	C3L-00412_TP	30873436	56931852	192024570	5	6903											
CLCA1	0	.	GRCh38	chr1	86482296	86482296	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacattcaataaagtaacaGgactctatgaaaaaggatgt	18	9	8	6	0	2	1	1	1	1	0	2	3	2	3	0	2	1	2	0	2	7	4	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.649G>T	p.Gly217Ter	p.G217*	ENST00000234701	6/15	123	111	12	149	148	1	strelka-mutect	CLCA1,stop_gained,p.Gly217Ter,ENST00000234701,;CLCA1,stop_gained,p.Gly217Ter,ENST00000394711,NM_001285.3;	T	ENST00000234701	Transcript	stop_gained	1000/3310	649/2745	217/914	G/*	Gga/Tga		1		1	CLCA1	HGNC	HGNC:2015	protein_coding	YES	CCDS709.1	ENSP00000234701	A8K7I4		UPI00001AE689				6/15		hmmpanther:PTHR10579:SF52,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868,Pfam_domain:PF08434																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	16	86482296	86482296	G	T	1	0	0	0	0	0	1	0	0	3221	1001	35	2		2	CLCA1	1	86482296	Nonsense_Mutation	SNP	G	C3L-00412_TP	29550444	86482296	162474126	6	6904											
HFM1	0	.	GRCh38	chr1	91385711	91385711	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttttgcttactattgctAtagttccttgatttcccttt	7	22	4	8	0	0	1	0	1	0	0	2	1	2	1	2	0	3	3	2	0	5	11	novel		C3L-00412_TP	C3L-00412_NB	A	A																c.618T>C	p.=	p.Y206Y	ENST00000370425	5/39	189	172	17	209	209	0	strelka-varscan-mutect	HFM1,synonymous_variant,p.=,ENST00000370425,NM_001017975.4;HFM1,synonymous_variant,p.=,ENST00000427444,;HFM1,synonymous_variant,p.=,ENST00000448819,;HFM1,non_coding_transcript_exon_variant,,ENST00000481900,;HFM1,non_coding_transcript_exon_variant,,ENST00000488023,;	G	ENST00000370425	Transcript	synonymous_variant	717/4931	618/4308	206/1435	Y	taT/taC		1		-1	HFM1	HGNC	HGNC:20193	protein_coding	YES	CCDS30769.2	ENSP00000359454	A2PYH4		UPI0000F51F79	NM_001017975.4			5/39																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	16	91385711	91385711	A	G	1	0	0	0	0	0	0	0	1	6967	456	16	5		5	HFM1	1	91385711	Silent	SNP	A	C3L-00412_TP	4903415	91385711	157570711	7	6905											
COL11A1	0	.	GRCh38	chr1	102962694	102962694	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccaggaagaccttgctCaccaggagggccaggagggc	11	3	15	12	0	1	1	1	0	0	1	1	4	1	4	4	5	2	2	4	5	1	1	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.2983G>T	p.Glu995Ter	p.E995*	ENST00000370096	39/67	255	242	13	270	269	1	strelka-varscan-mutect	COL11A1,stop_gained,p.Glu1007Ter,ENST00000358392,NM_080629.2;COL11A1,stop_gained,p.Glu995Ter,ENST00000370096,NM_001854.3;COL11A1,stop_gained,p.Glu956Ter,ENST00000353414,NM_001190709.1;COL11A1,stop_gained,p.Glu879Ter,ENST00000512756,NM_080630.3;COL11A1,3_prime_UTR_variant,,ENST00000635193,;COL11A1,upstream_gene_variant,,ENST00000465209,;	A	ENST00000370096	Transcript	stop_gained	3296/7286	2983/5421	995/1806	E/*	Gag/Tag		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3			39/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	16	102962694	102962694	C	A	1	0	0	0	0	0	1	0	0	3455	835	29	2		2	COL11A1	1	102962694	Nonsense_Mutation	SNP	C	C3L-00412_TP	11576983	102962694	145993728	8	6906											
SMG5	0	.	GRCh38	chr1	156263476	156263476	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagcagaccttcggcCatcaggacctgaagcttctc	10	7	11	13	1	2	2	1	1	1	1	4	4	2	4	3	3	2	3	3	3	2	2	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.1950G>C	p.Met650Ile	p.M650I	ENST00000361813	13/22	216	200	16	203	203	0	strelka-varscan-mutect	SMG5,missense_variant,p.Met650Ile,ENST00000361813,NM_001323617.1,NM_001323616.1,NM_015327.2;SMG5,downstream_gene_variant,,ENST00000489907,;	G	ENST00000361813	Transcript	missense_variant	2095/4559	1950/3051	650/1016	M/I	atG/atC		1		-1	SMG5	HGNC	HGNC:24644	protein_coding	YES	CCDS1137.1	ENSP00000355261	Q9UPR3		UPI0000050C24	NM_001323617.1,NM_001323616.1,NM_015327.2	deleterious(0.04)		13/22		hmmpanther:PTHR15696:SF8,hmmpanther:PTHR15696																	MODERATE	1	SNV	1			1										PASS		rs1436332107	.												G	3	3	16	156263476	156263476	C	G	1	0	0	0	0	1	0	0	0	15090	594	21	4		4	SMG5	1	156263476	Missense_Mutation	SNP	C	C3L-00412_TP	53300782	156263476	92692946	9	6907											
OR6N1	0	.	GRCh38	chr1	158766197	158766197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgggaggcgtgaaatCaaggaaatttcaactactgg	15	8	12	6	1	2	2	2	1	0	1	2	4	2	4	0	4	2	0	0	4	6	2	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.486G>T	p.Leu162Phe	p.L162F	ENST00000335094	1/1	186	149	37	205	204	1	strelka-varscan-mutect	OR6N1,missense_variant,p.Leu162Phe,ENST00000335094,NM_001005185.1;	A	ENST00000335094	Transcript	missense_variant	486/939	486/939	162/312	L/F	ttG/ttT		1		-1	OR6N1	HGNC	HGNC:15034	protein_coding	YES	CCDS30905.1	ENSP00000335535	Q8NGY5		UPI000003FE15	NM_001005185.1	tolerated(0.18)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF123,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs933466925	.												A	3	1	16	158766197	158766197	C	A	1	0	0	0	0	1	0	0	0	11275	825	29	2		2	OR6N1	1	158766197	Missense_Mutation	SNP	C	C3L-00412_TP	2502721	158766197	90190225	10	6908											
ACKR1	0	.	GRCh38	chr1	159205814	159205814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctaggtagcactcgcagCtctgccctgtgtagcctggg	5	9	15	12	1	1	0	0	0	1	0	2	0	1	0	2	3	4	6	2	3	3	3	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.381C>A	p.Ser127Arg	p.S127R	ENST00000368121	1/1	83	78	5	112	112	0	strelka-varscan-mutect	ACKR1,missense_variant,p.Ser125Arg,ENST00000537147,;ACKR1,missense_variant,p.Ser125Arg,ENST00000368122,NM_002036.3;ACKR1,missense_variant,p.Ser127Arg,ENST00000368121,NM_001122951.2;ACKR1,missense_variant,p.Ser127Arg,ENST00000435307,;CADM3,downstream_gene_variant,,ENST00000368125,NM_001127173.1;CADM3,downstream_gene_variant,,ENST00000368124,NM_021189.3;CADM3-AS1,intron_variant,,ENST00000609696,;CADM3-AS1,upstream_gene_variant,,ENST00000415675,;	A	ENST00000368121	Transcript	missense_variant	556/1240	381/1017	127/338	S/R	agC/agA		1		1	ACKR1	HGNC	HGNC:4035	protein_coding	YES	CCDS44252.1	ENSP00000357103	Q16570	Q5Y7A1	UPI000013E1B0	NM_001122951.2	tolerated(0.35)		1/1		hmmpanther:PTHR14181																	MODERATE		SNV				1										PASS		rs1046534263	.												A	3	1	16	159205814	159205814	C	A	1	0	0	0	0	1	0	0	0	181	796	28	2		2	ACKR1	1	159205814	Missense_Mutation	SNP	C	C3L-00412_TP	439617	159205814	89750608	11	6909											
BPNT1	0	.	GRCh38	chr1	220079813	220079813	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatagaatatgcggaggctaCcaaccgcatcaacacagtgt	15	7	9	10	2	1	1	1	0	0	1	1	2	1	2	2	2	4	2	2	2	7	3	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.34G>T	p.Val12Leu	p.V12L	ENST00000469520	3/10	192	178	14	154	154	0	strelka-varscan-mutect	BPNT1,missense_variant,p.Val12Leu,ENST00000469520,;BPNT1,missense_variant,p.Val12Leu,ENST00000322067,NM_006085.5;BPNT1,missense_variant,p.Val12Leu,ENST00000414869,NM_001286150.1;BPNT1,missense_variant,p.Val12Leu,ENST00000354807,;BPNT1,missense_variant,p.Val12Leu,ENST00000463953,;BPNT1,missense_variant,p.Val12Leu,ENST00000498237,;BPNT1,missense_variant,p.Val12Leu,ENST00000498791,;BPNT1,intron_variant,,ENST00000544404,NM_001286151.1,NM_001286149.1;BPNT1,intron_variant,,ENST00000480959,;BPNT1,intron_variant,,ENST00000482136,;	A	ENST00000469520	Transcript	missense_variant	484/2737	34/927	12/308	V/L	Gta/Tta		1		-1	BPNT1	HGNC	HGNC:1096	protein_coding	YES	CCDS41469.1	ENSP00000446828	O95861	V9HWF9	UPI000007212C		tolerated(0.42)		3/10		hmmpanther:PTHR20854,hmmpanther:PTHR20854:SF5,Gene3D:3.30.540.10,Superfamily_domains:SSF56655																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	16	220079813	220079813	C	A	1	0	0	0	0	1	0	0	0	1663	507	18	2		2	BPNT1	1	220079813	Missense_Mutation	SNP	C	C3L-00412_TP	60873999	220079813	28876609	12	6910											
C1orf101	0	.	GRCh38	chr1	244552326	244552326	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttctcttcttaggaccTggcgtattgtagtaccaatg	7	17	8	9	1	3	0	0	0	3	0	4	1	3	1	2	2	1	3	2	2	5	8	novel		C3L-00412_TP	C3L-00412_NB	T	T																c.541T>C	p.Trp181Arg	p.W181R	ENST00000366534	9/22	50	43	7	69	69	0	strelka-varscan-mutect	C1orf101,missense_variant,p.Trp181Arg,ENST00000366534,NM_001130957.1;C1orf101,missense_variant,p.Trp30Arg,ENST00000366531,NM_001242340.1;C1orf101,missense_variant,p.Trp181Arg,ENST00000366533,NM_173807.4;C1orf101,missense_variant,p.Trp101Arg,ENST00000428042,;C1orf101,non_coding_transcript_exon_variant,,ENST00000464170,;C1orf101,non_coding_transcript_exon_variant,,ENST00000460986,;C1orf101,non_coding_transcript_exon_variant,,ENST00000478554,;C1orf101,intron_variant,,ENST00000473875,;	C	ENST00000366534	Transcript	missense_variant	595/3333	541/2856	181/951	W/R	Tgg/Cgg		1		1	C1orf101	HGNC	HGNC:28491	protein_coding	YES	CCDS44340.1	ENSP00000355492	Q5SY80		UPI00004701CD	NM_001130957.1	deleterious(0)		9/22		hmmpanther:PTHR33722:SF3,hmmpanther:PTHR33722																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	16	244552326	244552326	T	C	1	0	0	0	0	1	0	0	0	1954	1594	55	5		5	C1orf101	1	244552326	Missense_Mutation	SNP	T	C3L-00412_TP	24472513	244552326	4404096	13	6911											
SOX11	0	.	GRCh38	chr2	5693099	5693099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccggaaaaagcccaaaatGgacccctcggccaagcccag	13	2	9	17	2	0	0	0	0	0	0	1	2	0	2	7	3	2	0	7	3	5	0	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.378G>T	p.Met126Ile	p.M126I	ENST00000322002	1/1	268	248	20	245	244	1	strelka-varscan-mutect	SOX11,missense_variant,p.Met126Ile,ENST00000322002,NM_003108.3;AC108025.2,upstream_gene_variant,,ENST00000453678,;AC010729.1,upstream_gene_variant,,ENST00000455579,;LINC01248,upstream_gene_variant,,ENST00000458264,;AC108025.2,upstream_gene_variant,,ENST00000420221,;	T	ENST00000322002	Transcript	missense_variant	433/8719	378/1326	126/441	M/I	atG/atT		1		1	SOX11	HGNC	HGNC:11191	protein_coding	YES	CCDS1654.1	ENSP00000322568	P35716		UPI00001362AD	NM_003108.3	tolerated(0.23)		1/1		Gene3D:1.10.30.10,PIRSF_domain:PIRSF038098,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF113,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		rs1182148169	.												T	3	4	16	5693099	5693099	G	T	1	0	0	0	0	1	0	0	0	15268	1348	47	2		2	SOX11	2	5693099	Missense_Mutation	SNP	G	C3L-00412_TP		5693099	236500430	14	6912											
ASTL	0	.	GRCh38	chr2	96124084	96124084	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccgaggcctctgcactGagctttttcagggcagggga	6	10	14	11	1	2	1	1	1	1	0	2	3	2	2	2	4	3	3	2	4	0	3	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.1062C>A	p.=	p.L354L	ENST00000342380	9/9	78	72	6	131	130	1	strelka-varscan-mutect	ASTL,synonymous_variant,p.=,ENST00000342380,NM_001002036.3;	T	ENST00000342380	Transcript	synonymous_variant	1062/1296	1062/1296	354/431	L	ctC/ctA		1		-1	ASTL	HGNC	HGNC:31704	protein_coding	YES	CCDS33249.1	ENSP00000343674	Q6HA08		UPI0000161978	NM_001002036.3			9/9																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	16	96124084	96124084	G	T	1	0	0	0	0	0	0	0	1	1210	1277	45	2		2	ASTL	2	96124084	Silent	SNP	G	C3L-00412_TP	90430985	96124084	146069445	15	6913											
GPD2	0	.	GRCh38	chr2	156557419	156557419	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggacttcttgacccagcGaccagtgatgggcgagttat	9	10	13	9	2	1	2	0	2	1	0	1	5	1	3	2	2	1	1	2	2	1	3	rs756980310		C3L-00412_TP	C3L-00412_NB	G	G																c.1002G>T	p.=	p.A334A	ENST00000310454	9/17	295	276	19	254	254	0	strelka-varscan-mutect	GPD2,synonymous_variant,p.=,ENST00000310454,NM_001083112.2;GPD2,synonymous_variant,p.=,ENST00000409125,;GPD2,synonymous_variant,p.=,ENST00000438166,NM_000408.4;GPD2,synonymous_variant,p.=,ENST00000409674,;GPD2,synonymous_variant,p.=,ENST00000540309,;GPD2,synonymous_variant,p.=,ENST00000409861,;	T	ENST00000310454	Transcript	synonymous_variant	1374/6041	1002/2184	334/727	A	gcG/gcT	rs756980310	1		1	GPD2	HGNC	HGNC:4456	protein_coding	YES	CCDS2202.1	ENSP00000308610	P43304		UPI000013F012	NM_001083112.2			9/17		Gene3D:3.50.50.60,Pfam_domain:PF01266,hmmpanther:PTHR11985,hmmpanther:PTHR11985:SF15,Superfamily_domains:SSF54373																	LOW	1	SNV	1			1										PASS		rs756980310	.												T	2	4	16	156557419	156557419	G	T	1	0	0	0	0	0	0	0	1	6508	1045	37	1		1	GPD2	2	156557419	Silent	SNP	G	C3L-00412_TP	60433335	156557419	85636110	16	6914											
XIRP2	0	.	GRCh38	chr2	167243129	167243129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggtgcagtccattagatgGatctttgagaatcaaccatt	12	12	10	7	0	2	2	1	1	1	2	3	5	3	3	2	2	2	1	2	2	3	3			C3L-00412_TP	C3L-00412_NB	G	G																c.1737G>T	p.Trp579Cys	p.W579C	ENST00000409195	9/11	139	130	9	159	159	0	strelka-varscan-mutect	XIRP2,missense_variant,p.Trp579Cys,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Trp357Cys,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Trp404Cys,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	T	ENST00000409195	Transcript	missense_variant	1826/12675	1737/10650	579/3549	W/C	tgG/tgT	COSM3569433	1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious(0)		9/11		Pfam_domain:PF08043,PROSITE_profiles:PS51389,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	16	167243129	167243129	G	T	1	0	0	0	0	1	0	0	0	17989	1183	41	2		2	XIRP2	2	167243129	Missense_Mutation	SNP	G	C3L-00412_TP	10685710	167243129	74950400	17	6915											
GORASP2	0	.	GRCh38	chr2	170966073	170966073	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcggcgactccaccccAgtcagcgagaagcctgtttc	9	7	11	14	3	1	2	1	0	0	2	4	4	2	2	4	1	2	1	4	1	1	1	rs762866384		C3L-00412_TP	C3L-00412_NB	A	A																c.1302A>T	p.=	p.P434P	ENST00000234160	10/10	350	326	24	323	323	0	strelka-varscan-mutect	GORASP2,synonymous_variant,p.=,ENST00000234160,NM_001201428.1,NM_015530.4;GORASP2,downstream_gene_variant,,ENST00000493692,;GORASP2,3_prime_UTR_variant,,ENST00000442798,;GORASP2,non_coding_transcript_exon_variant,,ENST00000486498,;	T	ENST00000234160	Transcript	synonymous_variant	2117/3173	1302/1359	434/452	P	ccA/ccT	rs762866384	1		1	GORASP2	HGNC	HGNC:17500	protein_coding	YES	CCDS33325.1	ENSP00000234160	Q9H8Y8		UPI000007373B	NM_001201428.1,NM_015530.4			10/10		hmmpanther:PTHR12893,hmmpanther:PTHR12893:SF1																	LOW	1	SNV	1			1										PASS		rs762866384	.												T	2	4	16	170966073	170966073	A	T	1	0	0	0	0	0	0	0	1	6470	175	7	4		4	GORASP2	2	170966073	Silent	SNP	A	C3L-00412_TP	3722944	170966073	71227456	18	6916											
FSIP2	0	.	GRCh38	chr2	185833109	185833109	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactcccaagcccgatgtCtccaaacaaggatctaaaat	16	7	6	12	1	2	0	0	0	2	0	4	3	3	1	3	1	3	0	3	1	6	1	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.20874C>A	p.=	p.V6958V	ENST00000343098	23/23	259	234	25	236	234	2	strelka-varscan-mutect	FSIP2,synonymous_variant,p.=,ENST00000343098,NM_173651.2;FSIP2,synonymous_variant,p.=,ENST00000424728,;FSIP2,3_prime_UTR_variant,,ENST00000611759,;FSIP2,3_prime_UTR_variant,,ENST00000415915,;	A	ENST00000343098	Transcript	synonymous_variant	20874/21054	20874/20991	6958/6996	V	gtC/gtA		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2			23/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	16	185833109	185833109	C	A	1	0	0	0	0	0	0	0	1	5949	900	32	2		2	FSIP2	2	185833109	Silent	SNP	C	C3L-00412_TP	14867036	185833109	56360420	19	6917											
COL5A2	0	.	GRCh38	chr2	189078524	189078524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agatatacttacaggagcacCctgtggcccaagtctccctc	10	9	8	14	0	1	1	0	0	1	1	3	2	1	2	3	2	3	1	3	2	4	3	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.1051G>T	p.Gly351Cys	p.G351C	ENST00000374866	16/54	264	247	17	287	287	0	strelka-varscan-mutect	COL5A2,missense_variant,p.Gly351Cys,ENST00000374866,NM_000393.3;COL5A2,intron_variant,,ENST00000618828,;	A	ENST00000374866	Transcript	missense_variant	1326/6949	1051/4500	351/1499	G/C	Ggt/Tgt		1		-1	COL5A2	HGNC	HGNC:2210	protein_coding	YES	CCDS33350.1	ENSP00000364000	P05997		UPI00006C511C	NM_000393.3	deleterious(0)		16/54																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	16	189078524	189078524	C	A	1	0	0	0	0	1	0	0	0	3486	623	22	2		2	COL5A2	2	189078524	Missense_Mutation	SNP	C	C3L-00412_TP	3245415	189078524	53115005	20	6918											
UNC80	0	.	GRCh38	chr2	209913931	209913931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatggatgagcacatggcaGgggcagcaggtaaagaaaga	15	4	16	6	0	0	3	0	1	0	2	0	4	0	4	0	5	2	6	0	5	3	1	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.4822G>T	p.Gly1608Trp	p.G1608W	ENST00000439458	30/64	75	69	6	80	80	0	strelka-varscan-mutect	UNC80,missense_variant,p.Gly1608Trp,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Gly1603Trp,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	T	ENST00000439458	Transcript	missense_variant	4902/13562	4822/9777	1608/3258	G/W	Ggg/Tgg		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1	deleterious(0)		30/64		Low_complexity_(Seg):seg,hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	16	209913931	209913931	G	T	1	0	0	0	0	1	0	0	0	17521	1000	35	2		2	UNC80	2	209913931	Missense_Mutation	SNP	G	C3L-00412_TP	20835407	209913931	32279598	21	6919											
MKRN2	0	.	GRCh38	chr3	12574828	12574828	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgaacacgagatggaaaagGcctttgccttccaggcaagc	12	7	11	11	2	0	1	0	0	0	1	2	4	1	2	3	3	3	1	3	3	4	2	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.679G>C	p.Ala227Pro	p.A227P	ENST00000170447	5/8	228	216	12	209	209	0	strelka-mutect	MKRN2,missense_variant,p.Ala227Pro,ENST00000170447,NM_014160.4;MKRN2,missense_variant,p.Ala225Pro,ENST00000448482,;MKRN2,missense_variant,p.Ala184Pro,ENST00000411987,NM_001271707.1;Metazoa_SRP,downstream_gene_variant,,ENST00000621376,;	C	ENST00000170447	Transcript	missense_variant	816/2848	679/1251	227/416	A/P	Gcc/Ccc		1		1	MKRN2	HGNC	HGNC:7113	protein_coding	YES	CCDS33702.1	ENSP00000170447	Q9H000		UPI000007116E	NM_014160.4	deleterious(0.01)		5/8		hmmpanther:PTHR11224:SF17,hmmpanther:PTHR11224																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	16	12574828	12574828	G	C	1	0	0	0	0	1	0	0	0	9574	1203	42	4		4	MKRN2	3	12574828	Missense_Mutation	SNP	G	C3L-00412_TP		12574828	185720731	22	6920											
FGFRL1	0	.	GRCh38	chr4	1025288	1025288	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacacacacacacacacTctcacacacactcacacgtg	16	4	2	19	1	2	0	2	0	1	0	3	0	2	0	0	0	0	0	0	0	0	0	rs775503014		C3L-00412_TP	C3L-00412_NB	T	T																c.1456T>A	p.Ser486Thr	p.S486T	ENST00000398484	8/8	178	168	10	274	270	4	varscan-mutect	FGFRL1,missense_variant,p.Ser486Thr,ENST00000398484,;FGFRL1,missense_variant,p.Ser486Thr,ENST00000264748,NM_001004358.1,NM_021923.3;FGFRL1,missense_variant,p.Ser486Thr,ENST00000510644,NM_001004356.2;FGFRL1,missense_variant,p.Ser486Thr,ENST00000504138,;FGFRL1,downstream_gene_variant,,ENST00000512174,;FGFRL1,downstream_gene_variant,,ENST00000507339,;RP11-460I19.2,upstream_gene_variant,,ENST00000503095,;	A	ENST00000398484	Transcript	missense_variant	2036/3639	1456/1515	486/504	S/T	Tct/Act	rs775503014,COSM1207100	1		1	FGFRL1	HGNC	HGNC:3693	protein_coding	YES	CCDS3344.1	ENSP00000381498	Q8N441		UPI000003ED0B		tolerated(1)		8/8		Low_complexity_(Seg):seg											0,1						MODERATE		SNV	5		0,1	1										PASS		rs775503014	.												A	3	1	16	1025288	1025288	T	A	1	0	0	0	0	1	0	0	0	5733	1551	54	4		4	FGFRL1	4	1025288	Missense_Mutation	SNP	T	C3L-00412_TP		1025288	189189267	23	6921											
UGT2B7	0	.	GRCh38	chr4	69098548	69098548	+	Frame_Shift_Del	DEL	A	A	-																															tattcctgtcaggaagacccActacattatctgagacaatg																								rs778968369		C3L-00412_TP	C3L-00412_NB	A	A																c.730delA	p.Thr244LeufsTer73	p.T244Lfs*73	ENST00000305231	2/6	137	129	8	147	147	0	varindel-pindel	UGT2B7,frameshift_variant,p.Thr244LeufsTer73,ENST00000305231,NM_001074.2;UGT2B7,frameshift_variant,p.Thr244LeufsTer73,ENST00000508661,;UGT2B7,frameshift_variant,p.Thr244LeufsTer73,ENST00000622664,;UGT2B7,5_prime_UTR_variant,,ENST00000502942,;UGT2B7,non_coding_transcript_exon_variant,,ENST00000509763,;	-	ENST00000305231	Transcript	frameshift_variant	776/1887	730/1590	244/529	T/X	Act/ct	rs778968369	1		1	UGT2B7	HGNC	HGNC:12554	protein_coding	YES	CCDS3526.1	ENSP00000304811	P16662		UPI00000015EC	NM_001074.2			2/6		hmmpanther:PTHR11926:SF382,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	16	69098548	69098548	A	-	1	0	1	0	1	0	0	0	0	17486	159	6	0		0	UGT2B7	4	69098548	Frame_Shift_Del	DEL	A	C3L-00412_TP	68073260	69098548	121116007	24	6922											
PDHA2	0	.	GRCh38	chr4	95841001	95841001	+	Missense_Mutation	SNP	C	C	A																															catactgatggagctgcaaaCctaccgttatcatggacaca																								novel		C3L-00412_TP	C3L-00412_NB	C	C																c.851C>A	p.Thr284Asn	p.T284N	ENST00000295266	1/1	234	216	18	297	297	0	strelka-varscan-mutect	PDHA2,missense_variant,p.Thr284Asn,ENST00000295266,NM_005390.4;	A	ENST00000295266	Transcript	missense_variant	983/1456	851/1167	284/388	T/N	aCc/aAc		1		1	PDHA2	HGNC	HGNC:8807	protein_coding	YES	CCDS3644.1	ENSP00000295266	P29803		UPI0000130C31	NM_005390.4	deleterious(0)		1/1		hmmpanther:PTHR11516:SF27,hmmpanther:PTHR11516,Pfam_domain:PF00676,TIGRFAM_domain:TIGR03182,Gene3D:3.40.50.970,Superfamily_domains:SSF52518																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	16	95841001	95841001	C	A	1	0	0	0	0	1	0	0	0	11753	507	18	2		2	PDHA2	4	95841001	Missense_Mutation	SNP	C	C3L-00412_TP	26742453	95841001	94373554	25	6923	159	2									
PDHA2	0	.	GRCh38	chr4	95841002	95841002	+	Silent	SNP	C	C	A																															atactgatggagctgcaaacCtaccgttatcatggacacag																								novel		C3L-00412_TP	C3L-00412_NB	C	C																c.852C>A	p.=	p.T284T	ENST00000295266	1/1	236	219	17	300	299	1	strelka-varscan-mutect	PDHA2,synonymous_variant,p.=,ENST00000295266,NM_005390.4;	A	ENST00000295266	Transcript	synonymous_variant	984/1456	852/1167	284/388	T	acC/acA		1		1	PDHA2	HGNC	HGNC:8807	protein_coding	YES	CCDS3644.1	ENSP00000295266	P29803		UPI0000130C31	NM_005390.4			1/1		hmmpanther:PTHR11516:SF27,hmmpanther:PTHR11516,Pfam_domain:PF00676,TIGRFAM_domain:TIGR03182,Gene3D:3.40.50.970,Superfamily_domains:SSF52518																	LOW	1	SNV				1										PASS		rs1041605730	.												A	2	1	16	95841002	95841002	C	A	1	0	0	0	0	0	0	0	1	11753	668	24	2		2	PDHA2	4	95841002	Silent	SNP	C	C3L-00412_TP	1	95841002	94373553	26	6924	159	2									
SYNPO2	0	.	GRCh38	chr4	119027373	119027373	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcagaaggcacagagcAgggagaagatccacgctcgg	13	4	13	11	2	2	4	2	0	0	4	4	5	3	4	1	3	1	3	1	3	2	0	novel		C3L-00412_TP	C3L-00412_NB	A	A																c.1004A>T	p.Gln335Leu	p.Q335L	ENST00000307142	3/5	87	81	6	105	105	0	strelka-varscan-mutect	SYNPO2,missense_variant,p.Gln335Leu,ENST00000429713,NM_001128933.2;SYNPO2,missense_variant,p.Gln335Leu,ENST00000307142,NM_133477.2;SYNPO2,missense_variant,p.Gln287Leu,ENST00000504178,;SYNPO2,missense_variant,p.Gln304Leu,ENST00000610556,NM_001286754.1;SYNPO2,missense_variant,p.Gln335Leu,ENST00000434046,NM_001128934.2;SYNPO2,intron_variant,,ENST00000448416,NM_001286755.1;	T	ENST00000307142	Transcript	missense_variant	1200/7295	1004/3786	335/1261	Q/L	cAg/cTg		1		1	SYNPO2	HGNC	HGNC:17732	protein_coding	YES	CCDS34054.1	ENSP00000306015	Q9UMS6		UPI00001D75EB	NM_133477.2	deleterious(0.03)		3/5																			MODERATE	1	SNV	1			1										PASS		rs1341900721	.												T	3	4	16	119027373	119027373	A	T	1	0	0	0	0	1	0	0	0	15851	188	7	4		4	SYNPO2	4	119027373	Missense_Mutation	SNP	A	C3L-00412_TP	23186371	119027373	71187182	27	6925											
INPP4B	0	.	GRCh38	chr4	142124619	142124619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgatgtctcttcttagcGtcagcatcagacactggggc	9	10	11	11	2	4	2	2	0	2	2	5	3	4	2	0	2	2	1	0	2	1	2	rs145209328		C3L-00412_TP	C3L-00412_NB	G	G																c.1862C>T	p.Thr621Met	p.T621M	ENST00000513000	20/27	223	208	15	215	214	1	strelka-varscan-mutect	INPP4B,missense_variant,p.Thr621Met,ENST00000513000,NM_003866.2;INPP4B,missense_variant,p.Thr621Met,ENST00000509777,;INPP4B,missense_variant,p.Thr621Met,ENST00000262992,NM_001101669.1;INPP4B,missense_variant,p.Thr621Met,ENST00000508116,;INPP4B,missense_variant,p.Thr621Met,ENST00000510812,;INPP4B,missense_variant,p.Thr436Met,ENST00000511838,;INPP4B,missense_variant,p.Thr492Met,ENST00000514525,;INPP4B,3_prime_UTR_variant,,ENST00000512630,;	A	ENST00000513000	Transcript	missense_variant	2296/8831	1862/2775	621/924	T/M	aCg/aTg	rs145209328	1		-1	INPP4B	HGNC	HGNC:6075	protein_coding	YES	CCDS3757.1	ENSP00000425487	O15327		UPI000013D37A	NM_003866.2	deleterious(0.04)		20/27		hmmpanther:PTHR12187,hmmpanther:PTHR12187:SF3																	MODERATE	1	SNV	1			1										PASS		rs145209328	.												A	3	1	16	142124619	142124619	G	A	1	0	0	0	0	1	0	0	0	7656	1145	40	1		1	INPP4B	4	142124619	Missense_Mutation	SNP	G	C3L-00412_TP	23097246	142124619	48089936	28	6926											
NEIL3	0	.	GRCh38	chr4	177353586	177353586	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagaagacaacaaacgatAtaactcaaccatccagcaaa	21	4	4	12	1	1	2	1	0	0	2	2	3	2	2	3	0	5	1	3	0	8	2	novel		C3L-00412_TP	C3L-00412_NB	A	A																c.1318A>G	p.Ile440Val	p.I440V	ENST00000264596	8/10	314	290	24	282	282	0	strelka-varscan-mutect	NEIL3,missense_variant,p.Ile440Val,ENST00000264596,NM_018248.2;RP11-376O6.2,intron_variant,,ENST00000506895,;NEIL3,3_prime_UTR_variant,,ENST00000513321,;	G	ENST00000264596	Transcript	missense_variant	1436/2408	1318/1818	440/605	I/V	Ata/Gta		1		1	NEIL3	HGNC	HGNC:24573	protein_coding	YES	CCDS3828.1	ENSP00000264596	Q8TAT5		UPI000013D53D	NM_018248.2	tolerated(0.62)		8/10		hmmpanther:PTHR22993,hmmpanther:PTHR22993:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	16	177353586	177353586	A	G	1	0	0	0	0	1	0	0	0	10348	449	16	5		5	NEIL3	4	177353586	Missense_Mutation	SNP	A	C3L-00412_TP	35228967	177353586	12860969	29	6927											
SEMA5A	0	.	GRCh38	chr5	9062985	9062985	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgttgcaaacacgcttcCggttccgaatgcccctgctg	6	11	11	13	3	0	0	0	0	0	0	2	1	2	0	4	2	4	6	4	2	2	4	rs770636604		C3L-00412_TP	C3L-00412_NB	C	C																c.2420G>T	p.Arg807Leu	p.R807L	ENST00000382496	18/23	559	523	36	477	476	1	strelka-varscan-mutect	SEMA5A,missense_variant,p.Arg807Leu,ENST00000382496,NM_003966.2;	A	ENST00000382496	Transcript	missense_variant	3086/11762	2420/3225	807/1074	R/L	cGg/cTg	rs770636604,COSM1311389	1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2	deleterious(0)		18/23		PROSITE_profiles:PS50092,hmmpanther:PTHR11036:SF78,hmmpanther:PTHR11036,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895,Prints_domain:PR01705											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs770636604	.												A	3	1	16	9062985	9062985	C	A	1	0	0	0	0	1	0	0	0	14313	652	23	1		1	SEMA5A	5	9062985	Missense_Mutation	SNP	C	C3L-00412_TP		9062985	172475274	30	6928											
FBXL7	0	.	GRCh38	chr5	15937028	15937028	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcctcaagtcctgcgagAgcatcaccggccagggcttg	8	7	12	14	2	3	1	3	0	0	1	4	2	4	1	4	2	3	2	4	2	1	1	novel		C3L-00412_TP	C3L-00412_NB	A	A																c.1318A>T	p.Ser440Cys	p.S440C	ENST00000504595	4/4	191	181	10	184	184	0	strelka-varscan-mutect	FBXL7,missense_variant,p.Ser440Cys,ENST00000504595,NM_012304.4;FBXL7,missense_variant,p.Ser398Cys,ENST00000329673,;FBXL7,missense_variant,p.Ser393Cys,ENST00000510662,NM_001278317.1;MIR887,downstream_gene_variant,,ENST00000401258,;	T	ENST00000504595	Transcript	missense_variant	1799/4562	1318/1476	440/491	S/C	Agc/Tgc		1		1	FBXL7	HGNC	HGNC:13604	protein_coding	YES	CCDS54833.1	ENSP00000423630	Q9UJT9		UPI00000724E0	NM_012304.4	tolerated(0.2)		4/4		Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24006,SMART_domains:SM00367,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	16	15937028	15937028	A	T	1	0	0	0	0	1	0	0	0	5587	304	11	4		4	FBXL7	5	15937028	Missense_Mutation	SNP	A	C3L-00412_TP	6874043	15937028	165601231	31	6929											
DAB2	0	.	GRCh38	chr5	39376791	39376791	+	Frame_Shift_Del	DEL	C	C	-																															ctctcccttccgcgcgggcaCagcaggtggctgccgcagtt																								rs766009192		C3L-00412_TP	C3L-00412_NB	C	C																c.1996delG	p.Val666CysfsTer14	p.V666Cfs*14	ENST00000320816	12/15	373	350	23	360	360	0	varindel-pindel	DAB2,frameshift_variant,p.Val645CysfsTer14,ENST00000545653,NM_001244871.1;DAB2,frameshift_variant,p.Val666CysfsTer14,ENST00000320816,NM_001343.3;DAB2,frameshift_variant,p.Val448CysfsTer14,ENST00000339788,;DAB2,frameshift_variant,p.Val645CysfsTer14,ENST00000509337,;C9,intron_variant,,ENST00000483232,;DAB2,upstream_gene_variant,,ENST00000502879,;	-	ENST00000320816	Transcript	frameshift_variant	2464/4534	1996/2313	666/770	V/X	Gtg/tg	rs766009192	1		-1	DAB2	HGNC	HGNC:2662	protein_coding	YES	CCDS34149.1	ENSP00000313391	P98082	A0A024R036	UPI0000169E27	NM_001343.3			12/15		hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF30																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	16	39376791	39376791	C	-	1	0	1	0	1	0	0	0	0	4019	478	17	0		0	DAB2	5	39376791	Frame_Shift_Del	DEL	C	C3L-00412_TP	23439763	39376791	142161468	32	6930											
PCDHA10	0	.	GRCh38	chr5	140857664	140857664	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggtgagcgcgcgcgatgGgggcgtgccgcctctgggca	4	5	19	13	6	1	1	0	1	1	0	1	2	1	1	3	4	2	1	3	4	0	0	rs201104305		C3L-00412_TP	C3L-00412_NB	G	G																c.1616G>C	p.Gly539Ala	p.G539A	ENST00000307360	1/4	664	625	39	706	699	7	varscan-mutect	PCDHA10,missense_variant,p.Gly539Ala,ENST00000562220,NM_031859.2;PCDHA10,missense_variant,p.Gly539Ala,ENST00000307360,NM_018901.3;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA9,downstream_gene_variant,,ENST00000378122,NM_014005.4;PCDHA14,upstream_gene_variant,,ENST00000506751,;	C	ENST00000307360	Transcript	missense_variant	1616/5254	1616/2847	539/948	G/A	gGg/gCg	rs201104305,COSM1645878,COSM336806	1		1	PCDHA10	HGNC	HGNC:8664	protein_coding	YES	CCDS54921.1	ENSP00000304234	Q9Y5I2		UPI00001273D3	NM_018901.3	tolerated_low_confidence(1)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF124,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs201104305	.												C	3	2	16	140857664	140857664	G	C	1	0	0	0	0	1	0	0	0	11607	1232	43	4		4	PCDHA10	5	140857664	Missense_Mutation	SNP	G	C3L-00412_TP	101480873	140857664	40680595	33	6931											
SH3TC2	0	.	GRCh38	chr5	149028157	149028157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcagagacgggcatgggcCcaggtcatgtggctcttctt	8	9	14	10	1	3	1	1	0	2	1	3	2	3	1	1	4	1	3	1	4	1	2	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.1575G>T	p.Trp525Cys	p.W525C	ENST00000515425	11/17	431	404	27	430	429	1	strelka-varscan-mutect	SH3TC2,missense_variant,p.Trp525Cys,ENST00000515425,NM_024577.3;SH3TC2,missense_variant,p.Trp518Cys,ENST00000512049,;SH3TC2,downstream_gene_variant,,ENST00000513340,;SH3TC2,downstream_gene_variant,,ENST00000503071,;SH3TC2,missense_variant,p.Trp525Cys,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;SH3TC2,3_prime_UTR_variant,,ENST00000513604,;SH3TC2,3_prime_UTR_variant,,ENST00000511307,;SH3TC2,3_prime_UTR_variant,,ENST00000510779,;	A	ENST00000515425	Transcript	missense_variant	1677/4059	1575/3867	525/1288	W/C	tgG/tgT		1		-1	SH3TC2	HGNC	HGNC:29427	protein_coding	YES	CCDS4293.1	ENSP00000423660	Q8TF17		UPI00001DFBEE	NM_024577.3	deleterious(0)		11/17		Gene3D:1.25.40.10,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	16	149028157	149028157	C	A	1	0	0	0	0	1	0	0	0	14521	624	22	2		2	SH3TC2	5	149028157	Missense_Mutation	SNP	C	C3L-00412_TP	8170493	149028157	32510102	34	6932											
HAVCR1	0	.	GRCh38	chr5	157029747	157029747	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggtcttagtccgtggcatAaagactattctcaatgtaga	11	13	10	7	1	2	2	1	0	2	2	4	2	3	2	1	2	0	2	1	2	6	5	novel		C3L-00412_TP	C3L-00412_NB	A	A																c.1047T>C	p.=	p.F349F	ENST00000625904	7/7	333	312	21	342	342	0	strelka-varscan-mutect	HAVCR1,missense_variant,p.Tyr361His,ENST00000339252,NM_001099414.1,NM_012206.2;HAVCR1,missense_variant,p.Tyr361His,ENST00000523175,NM_001173393.1;HAVCR1,synonymous_variant,p.=,ENST00000625904,;HAVCR1,synonymous_variant,p.=,ENST00000522693,NM_001308156.1;HAVCR1,non_coding_transcript_exon_variant,,ENST00000517644,;	G	ENST00000625904	Transcript	synonymous_variant	1580/1807	1047/1206	349/401	F	ttT/ttC		1		-1	HAVCR1	HGNC	HGNC:17866	protein_coding	YES	CCDS78076.1	ENSP00000487363		E9PFX0	UPI000020C020				7/7																			LOW	1	SNV	5			1										PASS		.	.												G	2	3	16	157029747	157029747	A	G	1	0	0	0	0	0	0	0	1	6859	362	13	5		5	HAVCR1	5	157029747	Silent	SNP	A	C3L-00412_TP	8001590	157029747	24508512	35	6933											
RREB1	0	.	GRCh38	chr6	7229296	7229296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagacactcaagtgtcaGctacctcaggaccccggctg	9	7	9	16	1	3	1	3	0	0	1	4	2	4	2	4	2	2	2	4	2	2	1	rs368120167		C3L-00412_TP	C3L-00412_NB	G	G																c.1197G>T	p.Gln399His	p.Q399H	ENST00000379938	10/13	145	136	9	159	159	0	strelka-varscan-mutect	RREB1,missense_variant,p.Gln399His,ENST00000379938,NM_001003699.3;RREB1,missense_variant,p.Gln399His,ENST00000349384,NM_001003698.3;RREB1,missense_variant,p.Gln399His,ENST00000379933,NM_001168344.1;RREB1,missense_variant,p.Gln399His,ENST00000334984,NM_001003700.1;RREB1,missense_variant,p.Gln399His,ENST00000483150,;RREB1,upstream_gene_variant,,ENST00000611109,;	T	ENST00000379938	Transcript	missense_variant	1734/8778	1197/5229	399/1742	Q/H	caG/caT	rs368120167	1		1	RREB1	HGNC	HGNC:10449	protein_coding	YES	CCDS34335.1	ENSP00000369270	Q92766		UPI000020E496	NM_001003699.3	tolerated(0.06)		10/13		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF42																	MODERATE	1	SNV	1			1										PASS		rs368120167	.												T	3	4	16	7229296	7229296	G	T	1	0	0	0	0	1	0	0	0	13933	962	34	2		2	RREB1	6	7229296	Missense_Mutation	SNP	G	C3L-00412_TP		7229296	163576683	36	6934											
HIST1H3D	0	.	GRCh38	chr6	26196983	26196983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctcctgcagcgccatcaCcgccgagctctgaaaacgca	9	5	10	17	4	2	1	1	1	1	0	3	2	3	1	5	1	4	3	5	1	2	0	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.268G>T	p.Val90Leu	p.V90L	ENST00000356476	1/1	463	438	25	471	470	1	strelka-varscan-mutect	HIST1H3D,missense_variant,p.Val90Leu,ENST00000356476,NM_003530.4;RP1-34B20.21,3_prime_UTR_variant,,ENST00000635200,;HIST1H2BF,upstream_gene_variant,,ENST00000356530,NM_003522.3;HIST1H2AD,downstream_gene_variant,,ENST00000341023,NM_021065.3;RP1-34B20.21,3_prime_UTR_variant,,ENST00000635641,;HIST1H1PS1,downstream_gene_variant,,ENST00000404269,;	A	ENST00000356476	Transcript	missense_variant	268/411	268/411	90/136	V/L	Gtg/Ttg		1		-1	HIST1H3D	HGNC	HGNC:4767	protein_coding	YES	CCDS4590.1	ENSP00000366999	P68431		UPI00000003C7	NM_003530.4	tolerated_low_confidence(0.12)		1/1		Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,SMART_domains:SM00428,Superfamily_domains:SSF47113																	MODERATE		SNV				1										PASS		rs1281998710	.												A	3	1	16	26196983	26196983	C	A	1	0	0	0	0	1	0	0	0	7046	507	18	2		2	HIST1H3D	6	26196983	Missense_Mutation	SNP	C	C3L-00412_TP	18967687	26196983	144608996	37	6935											
ITPR3	0	.	GRCh38	chr6	33689242	33689242	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccctggcccccaggcgtGctggactcccctctcatctc	3	9	9	20	1	2	0	1	0	2	0	5	1	3	1	6	3	2	1	6	3	0	0	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.6699G>T	p.=	p.V2233V	ENST00000374316	51/59	73	67	6	104	104	0	strelka-varscan-mutect	ITPR3,synonymous_variant,p.=,ENST00000374316,;ITPR3,synonymous_variant,p.=,ENST00000605930,NM_002224.3;	T	ENST00000374316	Transcript	synonymous_variant	7759/9870	6699/8016	2233/2671	V	gtG/gtT		1		1	ITPR3	HGNC	HGNC:6182	protein_coding	YES	CCDS4783.1	ENSP00000363435	Q14573		UPI000013CB74				51/59		hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715																	LOW	1	SNV	5			1										PASS		rs1372770319	.												T	2	4	16	33689242	33689242	G	T	1	0	0	0	0	0	0	0	1	7828	1333	46	2		2	ITPR3	6	33689242	Silent	SNP	G	C3L-00412_TP	7492259	33689242	137116737	38	6936											
CPNE5	0	.	GRCh38	chr6	36756297	36756297	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttttcgggtttaccAcctgcaggaaaaaccagtta	10	15	7	9	1	1	0	0	0	1	0	2	1	1	1	3	2	3	3	3	2	4	7	novel		C3L-00412_TP	C3L-00412_NB	A	A																c.857T>A	p.Val286Glu	p.V286E	ENST00000244751	13/21	153	138	15	145	145	0	strelka-varscan-mutect	CPNE5,missense_variant,p.Val286Glu,ENST00000244751,NM_020939.1;CPNE5,missense_variant,p.Val287Glu,ENST00000633136,;CPNE5,splice_region_variant,,ENST00000393189,NM_001314018.1,NM_001314020.1;CPNE5,splice_region_variant,,ENST00000459703,;CPNE5,splice_region_variant,,ENST00000633929,;CPNE5,splice_region_variant,,ENST00000493411,;CPNE5,splice_region_variant,,ENST00000634222,;	T	ENST00000244751	Transcript	missense_variant,splice_region_variant	1482/3897	857/1782	286/593	V/E	gTg/gAg		1		-1	CPNE5	HGNC	HGNC:2318	protein_coding	YES	CCDS4825.1	ENSP00000244751	Q9HCH3		UPI0000127C15	NM_020939.1	deleterious(0.01)		13/21		hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF51,Gene3D:2.60.40.150,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	16	36756297	36756297	A	T	1	0	0	0	0	1	0	0	0	3610	173	6	4		4	CPNE5	6	36756297	Missense_Mutation	SNP	A	C3L-00412_TP	3067055	36756297	134049682	39	6937											
GLYATL3	0	.	GRCh38	chr6	49511994	49511994	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagagctctggaaaagatgTtggtgctaaactgttctacc	12	11	10	8	0	2	2	0	0	2	2	2	3	2	3	1	2	4	4	1	2	6	4	novel		C3L-00412_TP	C3L-00412_NB	T	T																c.4T>A	p.Leu2Met	p.L2M	ENST00000371197	2/6	112	103	9	93	93	0	strelka-varscan-mutect	GLYATL3,missense_variant,p.Leu2Met,ENST00000371197,NM_001010904.1;GLYATL3,missense_variant,p.Leu2Met,ENST00000545705,;	A	ENST00000371197	Transcript	missense_variant	117/1113	4/867	2/288	L/M	Ttg/Atg		1		1	GLYATL3	HGNC	HGNC:21349	protein_coding	YES	CCDS47440.1	ENSP00000360240	Q5SZD4		UPI000023780B	NM_001010904.1	deleterious(0.02)		2/6		Pfam_domain:PF06021,hmmpanther:PTHR15298,hmmpanther:PTHR15298:SF6																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	16	49511994	49511994	T	A	1	0	0	0	0	1	0	0	0	6360	1722	60	4		4	GLYATL3	6	49511994	Missense_Mutation	SNP	T	C3L-00412_TP	12755697	49511994	121293985	40	6938											
BEND6	0	.	GRCh38	chr6	56992466	56992466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattgtcaaaggaagaatTgtgcgccaaaataaaaagcc	19	7	9	6	1	1	2	1	0	0	2	1	3	1	3	2	1	2	0	2	1	9	3	novel		C3L-00412_TP	C3L-00412_NB	T	T																c.209T>C	p.Leu70Ser	p.L70S	ENST00000370746	3/7	241	227	14	208	208	0	strelka-varscan-mutect	BEND6,missense_variant,p.Leu70Ser,ENST00000370748,NM_001318539.1;BEND6,missense_variant,p.Leu70Ser,ENST00000370746,NM_152731.2;BEND6,missense_variant,p.Leu70Ser,ENST00000370745,;	C	ENST00000370746	Transcript	missense_variant	478/2379	209/840	70/279	L/S	tTg/tCg		1		1	BEND6	HGNC	HGNC:20871	protein_coding	YES	CCDS43476.1	ENSP00000359782	Q5SZJ8		UPI000020DF34	NM_152731.2	deleterious_low_confidence(0)		3/7		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR35346																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	16	56992466	56992466	T	C	1	0	0	0	0	1	0	0	0	1550	1821	63	5		5	BEND6	6	56992466	Missense_Mutation	SNP	T	C3L-00412_TP	7480472	56992466	113813513	41	6939											
BACH2	0	.	GRCh38	chr6	89950272	89950272	+	Nonsense_Mutation	SNP	C	C	A																															tttatgtgggttccctacctCctggcccctgtcctgcacag																								novel		C3L-00412_TP	C3L-00412_NB	C	C																c.1834G>T	p.Glu612Ter	p.E612*	ENST00000257749	7/9	387	350	37	388	386	2	strelka-varscan-mutect	BACH2,stop_gained,p.Glu612Ter,ENST00000257749,NM_021813.3;BACH2,stop_gained,p.Glu612Ter,ENST00000537989,NM_001170794.1;BACH2,stop_gained,p.Glu612Ter,ENST00000343122,;RP3-512E2.2,intron_variant,,ENST00000413986,;RP3-512E2.2,upstream_gene_variant,,ENST00000445838,;	A	ENST00000257749	Transcript	stop_gained,splice_region_variant	2542/9113	1834/2526	612/841	E/*	Gag/Tag		1		-1	BACH2	HGNC	HGNC:14078	protein_coding	YES	CCDS5026.1	ENSP00000257749	Q9BYV9		UPI000004F8AD	NM_021813.3			7/9		Gene3D:1.10.880.10,Superfamily_domains:SSF47454																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	16	89950272	89950272	C	A	1	0	0	0	0	0	1	0	0	1442	869	30	2		2	BACH2	6	89950272	Nonsense_Mutation	SNP	C	C3L-00412_TP	32957806	89950272	80855707	42	6940	160	2									
BACH2	0	.	GRCh38	chr6	89950273	89950273	+	Missense_Mutation	SNP	C	C	A																															ttatgtgggttccctacctcCtggcccctgtcctgcacagg																								novel		C3L-00412_TP	C3L-00412_NB	C	C																c.1833G>T	p.Gln611His	p.Q611H	ENST00000257749	7/9	388	352	36	393	391	2	strelka-varscan-mutect	BACH2,missense_variant,p.Gln611His,ENST00000257749,NM_021813.3;BACH2,missense_variant,p.Gln611His,ENST00000537989,NM_001170794.1;BACH2,missense_variant,p.Gln611His,ENST00000343122,;RP3-512E2.2,intron_variant,,ENST00000413986,;RP3-512E2.2,upstream_gene_variant,,ENST00000445838,;	A	ENST00000257749	Transcript	missense_variant	2541/9113	1833/2526	611/841	Q/H	caG/caT		1		-1	BACH2	HGNC	HGNC:14078	protein_coding	YES	CCDS5026.1	ENSP00000257749	Q9BYV9		UPI000004F8AD	NM_021813.3	tolerated(0.29)		7/9		Gene3D:1.10.880.10,Superfamily_domains:SSF47454																	MODERATE	1	SNV	1			1										PASS		rs1024684355	.												A	3	1	16	89950273	89950273	C	A	1	0	0	0	0	1	0	0	0	1442	695	24	2		2	BACH2	6	89950273	Missense_Mutation	SNP	C	C3L-00412_TP	1	89950273	80855706	43	6941	160	2									
LAMA2	0	.	GRCh38	chr6	129353214	129353214	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccctggaggctcctgccAagaatgtgagtgtgatccct	9	9	11	12	0	0	3	0	2	0	1	2	4	2	4	4	2	2	1	4	2	3	0	novel		C3L-00412_TP	C3L-00412_NB	A	A																c.4574A>T	p.Gln1525Leu	p.Q1525L	ENST00000421865	32/65	153	143	10	174	174	0	strelka-mutect	LAMA2,missense_variant,p.Gln1525Leu,ENST00000618192,;LAMA2,missense_variant,p.Gln1525Leu,ENST00000617695,;LAMA2,missense_variant,p.Gln1525Leu,ENST00000421865,NM_001079823.1,NM_000426.3;	T	ENST00000421865	Transcript	missense_variant	4623/9640	4574/9369	1525/3122	Q/L	cAa/cTa		1		1	LAMA2	HGNC	HGNC:6482	protein_coding	YES	CCDS5138.1	ENSP00000400365	P24043		UPI00003673E0	NM_001079823.1,NM_000426.3	tolerated(0.05)		32/65		Gene3D:2.10.25.10,Prints_domain:PR00011,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF291,Superfamily_domains:SSF57196																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	16	129353214	129353214	A	T	1	0	0	0	0	1	0	0	0	8510	130	5	4		4	LAMA2	6	129353214	Missense_Mutation	SNP	A	C3L-00412_TP	39402941	129353214	41452765	44	6942											
SASH1	0	.	GRCh38	chr6	148548538	148548538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagactcttcaaactgccgCcaggccctgaggccatgtag	9	7	10	15	1	2	2	1	1	1	1	2	2	2	2	5	2	2	1	5	2	2	2	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.3724C>T	p.Pro1242Ser	p.P1242S	ENST00000367467	20/20	49	45	4	72	72	0	strelka-varscan-mutect	SASH1,missense_variant,p.Pro1242Ser,ENST00000367467,NM_015278.3;SASH1,missense_variant,p.Pro652Ser,ENST00000622663,;	T	ENST00000367467	Transcript	missense_variant	4199/7711	3724/3744	1242/1247	P/S	Cca/Tca		1		1	SASH1	HGNC	HGNC:19182	protein_coding	YES	CCDS5212.1	ENSP00000356437	O94885		UPI00003519AE	NM_015278.3	tolerated_low_confidence(0.24)		20/20		hmmpanther:PTHR12301:SF3,hmmpanther:PTHR12301																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	16	148548538	148548538	C	T	1	0	0	0	0	1	0	0	0	14109	739	26	3		3	SASH1	6	148548538	Missense_Mutation	SNP	C	C3L-00412_TP	19195324	148548538	22257441	45	6943											
GINM1	0	.	GRCh38	chr6	149572529	149572529	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttaacataacctatgAgagtggacaggtgtatgtaa	13	13	10	5	0	1	1	0	1	1	1	1	3	1	2	1	2	2	3	1	2	5	6	novel		C3L-00412_TP	C3L-00412_NB	A	A																c.203A>G	p.Glu68Gly	p.E68G	ENST00000367419	3/8	125	117	8	133	133	0	strelka-varscan-mutect	GINM1,missense_variant,p.Glu68Gly,ENST00000367419,NM_138785.3;RP1-12G14.9,downstream_gene_variant,,ENST00000627304,;	G	ENST00000367419	Transcript	missense_variant	324/2024	203/993	68/330	E/G	gAg/gGg		1		1	GINM1	HGNC	HGNC:21074	protein_coding	YES	CCDS5216.1	ENSP00000356389	Q9NU53		UPI0000049E0C	NM_138785.3	tolerated(0.34)		3/8		hmmpanther:PTHR28549,hmmpanther:PTHR28549:SF1,PD320073																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	16	149572529	149572529	A	G	1	0	0	0	0	1	0	0	0	6268	304	11	5		5	GINM1	6	149572529	Missense_Mutation	SNP	A	C3L-00412_TP	1023991	149572529	21233450	46	6944											
ARID1B	0	.	GRCh38	chr6	157196248	157196248	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtacaaccaaagtccctccGgagcaatgtctaacctgggc	11	8	9	13	1	1	0	0	0	1	0	3	1	3	1	4	2	4	2	4	2	5	2	rs199674889		C3L-00412_TP	C3L-00412_NB	G	G																c.3946G>T	p.Gly1316Ter	p.G1316*	ENST00000346085	16/20	180	167	13	200	199	1	strelka-varscan-mutect	ARID1B,stop_gained,p.Gly1316Ter,ENST00000346085,NM_020732.3;ARID1B,stop_gained,p.Gly1356Ter,ENST00000636930,;ARID1B,stop_gained,p.Gly1303Ter,ENST00000350026,NM_017519.2;ARID1B,stop_gained,p.Gly825Ter,ENST00000414678,;ARID1B,stop_gained,p.Gly606Ter,ENST00000637904,;ARID1B,stop_gained,p.Gly546Ter,ENST00000635849,;ARID1B,stop_gained,p.Gly562Ter,ENST00000637015,;ARID1B,stop_gained,p.Gly553Ter,ENST00000637810,;ARID1B,stop_gained,p.Gly423Ter,ENST00000635957,;ARID1B,non_coding_transcript_exon_variant,,ENST00000637741,;ARID1B,3_prime_UTR_variant,,ENST00000637568,;ARID1B,non_coding_transcript_exon_variant,,ENST00000636227,;ARID1B,non_coding_transcript_exon_variant,,ENST00000636940,;ARID1B,upstream_gene_variant,,ENST00000636254,;	T	ENST00000346085	Transcript	stop_gained	4502/10194	3946/6750	1316/2249	G/*	Gga/Tga	rs199674889	1		1	ARID1B	HGNC	HGNC:18040	protein_coding	YES	CCDS55072.1	ENSP00000344546	Q8NFD5		UPI000058E4B2	NM_020732.3			16/20		hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656																	HIGH	1	SNV	1			1										PASS		rs199674889	.												T	4	4	16	157196248	157196248	G	T	1	0	0	0	0	0	1	0	0	1050	1117	39	1		1	ARID1B	6	157196248	Nonsense_Mutation	SNP	G	C3L-00412_TP	7623719	157196248	13609731	47	6945											
IGF2R	0	.	GRCh38	chr6	160061610	160061610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggactttctatttgagcGtttgcaatcctctcccttac	8	15	7	11	1	2	2	0	1	2	1	4	3	3	3	2	1	3	2	2	1	3	5	rs8191843		C3L-00412_TP	C3L-00412_NB	G	G																c.3370G>A	p.Val1124Ile	p.V1124I	ENST00000356956	24/48	136	125	11	191	191	0	strelka-varscan-mutect	IGF2R,missense_variant,p.Val1124Ile,ENST00000356956,NM_000876.2;	A	ENST00000356956	Transcript	missense_variant	3518/14044	3370/7476	1124/2491	V/I	Gtt/Att	rs8191843,COSM1075596	1		1	IGF2R	HGNC	HGNC:5467	protein_coding	YES	CCDS5273.1	ENSP00000349437	P11717		UPI0000072478	NM_000876.2	deleterious(0.03)		24/48		Gene3D:2.70.130.10,Pfam_domain:PF00878,hmmpanther:PTHR15071,hmmpanther:PTHR15071:SF5,SMART_domains:SM01404,Superfamily_domains:SSF50911											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs8191843	.												A	3	1	16	160061610	160061610	G	A	1	0	0	0	0	1	0	0	0	7482	1145	40	1		1	IGF2R	6	160061610	Missense_Mutation	SNP	G	C3L-00412_TP	2865362	160061610	10744369	48	6946											
TTYH3	0	.	GRCh38	chr7	2632184	2632184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagctacgcggcgccctGgtgggtgagcctcctgcacc	4	7	15	15	3	1	1	1	1	0	0	2	1	2	1	4	4	4	2	4	4	1	1	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.29G>T	p.Trp10Leu	p.W10L	ENST00000258796	1/14	112	100	12	118	118	0	strelka-varscan-mutect	TTYH3,missense_variant,p.Trp10Leu,ENST00000258796,NM_025250.2;TTYH3,missense_variant,p.Trp10Leu,ENST00000407643,;	T	ENST00000258796	Transcript	missense_variant	234/4840	29/1572	10/523	W/L	tGg/tTg		1		1	TTYH3	HGNC	HGNC:22222	protein_coding	YES	CCDS34588.1	ENSP00000258796	Q9C0H2	A0A024R816	UPI000020E9F9	NM_025250.2	deleterious(0.01)		1/14		hmmpanther:PTHR12424,hmmpanther:PTHR12424:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	16	2632184	2632184	G	T	1	0	0	0	0	1	0	0	0	17251	1357	47	2		2	TTYH3	7	2632184	Missense_Mutation	SNP	G	C3L-00412_TP		2632184	156713789	49	6947											
PHTF2	0	.	GRCh38	chr7	77840280	77840280	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtccaaagtcacagatgctAtagtctggtatcaaaagaag	15	9	9	8	1	3	2	2	0	1	2	4	2	4	2	1	1	1	2	1	1	7	3	rs778356622		C3L-00412_TP	C3L-00412_NB	A	A																c.25A>G	p.Ile9Val	p.I9V	ENST00000422959	2/19	143	135	8	151	151	0	strelka-varscan	PHTF2,missense_variant,p.Ile9Val,ENST00000416283,;PHTF2,missense_variant,p.Ile9Val,ENST00000307305,NM_001127358.1,NM_020432.4;PHTF2,missense_variant,p.Ile9Val,ENST00000248550,;PHTF2,missense_variant,p.Ile9Val,ENST00000275575,;PHTF2,missense_variant,p.Ile9Val,ENST00000422959,NM_001127357.1;PHTF2,missense_variant,p.Ile9Val,ENST00000450574,NM_001127359.1;PHTF2,missense_variant,p.Ile9Val,ENST00000424760,;PHTF2,missense_variant,p.Ile9Val,ENST00000415251,NM_001127360.1;	G	ENST00000422959	Transcript	missense_variant	227/3525	25/2256	9/751	I/V	Ata/Gta	rs778356622,COSM1132940,COSM1132941	1		1	PHTF2	HGNC	HGNC:13411	protein_coding	YES	CCDS47621.1	ENSP00000403042	Q8N3S3		UPI0000E674D3	NM_001127357.1	tolerated(0.31)		2/19		Pfam_domain:PF12129,hmmpanther:PTHR12680,hmmpanther:PTHR12680:SF2											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		.	.												G	3	3	16	77840280	77840280	A	G	1	0	0	0	0	1	0	0	0	11951	449	16	5		5	PHTF2	7	77840280	Missense_Mutation	SNP	A	C3L-00412_TP	75208096	77840280	81505693	50	6948											
LRRC17	0	.	GRCh38	chr7	102934235	102934235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaagtttaaaaagctgAaaagcctggatctgcagcag	14	10	9	8	0	1	1	0	1	1	0	2	2	2	2	2	1	4	4	2	1	6	3	novel		C3L-00412_TP	C3L-00412_NB	A	A																c.322A>G	p.Lys108Glu	p.K108E	ENST00000339431	2/4	185	174	11	191	191	0	strelka-varscan	LRRC17,missense_variant,p.Lys108Glu,ENST00000249377,NM_005824.2;LRRC17,missense_variant,p.Lys108Glu,ENST00000339431,NM_001031692.2;FBXL13,intron_variant,,ENST00000313221,NM_145032.3;FBXL13,intron_variant,,ENST00000379308,;FBXL13,intron_variant,,ENST00000436908,;FBXL13,intron_variant,,ENST00000379305,NM_001287150.1;FBXL13,intron_variant,,ENST00000455112,NM_001111038.1;FBXL13,intron_variant,,ENST00000456695,;LRRC17,downstream_gene_variant,,ENST00000455453,;FBXL13,intron_variant,,ENST00000477915,;LRRC17,upstream_gene_variant,,ENST00000485478,;FBXL13,upstream_gene_variant,,ENST00000468216,;LRRC17,downstream_gene_variant,,ENST00000498487,;FBXL13,intron_variant,,ENST00000448002,;	G	ENST00000339431	Transcript	missense_variant	617/1963	322/1326	108/441	K/E	Aaa/Gaa		1		1	LRRC17	HGNC	HGNC:16895	protein_coding	YES	CCDS34721.1	ENSP00000344242	Q8N6Y2		UPI00000719CD	NM_001031692.2	deleterious(0.03)		2/4		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF323,Low_complexity_(Seg):seg,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	16	102934235	102934235	A	G	1	0	0	0	0	1	0	0	0	8868	247	9	5		5	LRRC17	7	102934235	Missense_Mutation	SNP	A	C3L-00412_TP	25093955	102934235	56411738	51	6949											
PRRT4	0	.	GRCh38	chr7	128352216	128352216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggcaggccagccccaggCcggcagccaagcagggcagc	9	0	16	16	1	0	0	0	0	0	0	0	0	0	0	5	5	4	5	5	5	1	0	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.1340G>T	p.Gly447Val	p.G447V	ENST00000446477	6/6	182	166	16	176	176	0	strelka-varscan	PRRT4,missense_variant,p.Gly447Val,ENST00000446477,NM_001174164.1;PRRT4,missense_variant,p.Gly447Val,ENST00000535159,;PRRT4,missense_variant,p.Gly447Val,ENST00000489517,;PRRT4,intron_variant,,ENST00000489835,NM_001114726.2;PRRT4,intron_variant,,ENST00000480290,;	A	ENST00000446477	Transcript	missense_variant	1654/3544	1340/2700	447/899	G/V	gGc/gTc		1		-1	PRRT4	HGNC	HGNC:37280	protein_coding	YES	CCDS55160.1	ENSP00000415026	C9JH25		UPI0000DD7E1D	NM_001174164.1	tolerated(0.26)		6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR35578,hmmpanther:PTHR35578:SF1,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	16	128352216	128352216	C	A	1	0	0	0	0	1	0	0	0	12758	739	26	2		2	PRRT4	7	128352216	Missense_Mutation	SNP	C	C3L-00412_TP	25417981	128352216	30993757	52	6950											
NOBOX	0	.	GRCh38	chr7	144401211	144401211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgggttgtgtgtggcacGggctgagttaggggcacccg	5	9	18	9	2	0	1	0	1	0	0	0	1	0	1	1	5	0	5	1	5	1	2	rs762139523		C3L-00412_TP	C3L-00412_NB	G	G																c.679C>A	p.Arg227Ser	p.R227S	ENST00000467773	4/10	134	123	11	122	122	0	strelka-varscan	NOBOX,missense_variant,p.Arg227Ser,ENST00000467773,NM_001080413.3;NOBOX,missense_variant,p.Arg227Ser,ENST00000483238,;	T	ENST00000467773	Transcript	missense_variant	679/2076	679/2076	227/691	R/S	Cgt/Agt	rs762139523,COSM3879037,COSM3879038	1		-1	NOBOX	HGNC	HGNC:22448	protein_coding	YES		ENSP00000419457	O60393		UPI00019B220B	NM_001080413.3	tolerated(0.15)		4/10		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF282											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		.	.												T	3	4	16	144401211	144401211	G	T	1	0	0	0	0	1	0	0	0	10554	1116	39	1		1	NOBOX	7	144401211	Missense_Mutation	SNP	G	C3L-00412_TP	16048995	144401211	14944762	53	6951											
SFRP1	0	.	GRCh38	chr8	41308844	41308844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagacctgggtgccggcgtGgcagttcttgttgagcaggg	6	9	18	8	2	1	2	0	1	1	1	1	3	1	2	2	4	2	4	2	4	1	3	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.316C>A	p.His106Asn	p.H106N	ENST00000220772	1/3	124	110	14	161	160	1	strelka-varscan-mutect	SFRP1,missense_variant,p.His106Asn,ENST00000220772,NM_003012.4;SFRP1,upstream_gene_variant,,ENST00000379845,;	T	ENST00000220772	Transcript	missense_variant	654/4492	316/945	106/314	H/N	Cac/Aac		1		-1	SFRP1	HGNC	HGNC:10776	protein_coding	YES	CCDS34886.1	ENSP00000220772	Q8N474		UPI0000038CE3	NM_003012.4	deleterious(0)		1/3		PROSITE_profiles:PS50038,hmmpanther:PTHR11309:SF87,hmmpanther:PTHR11309,Gene3D:1ijyA00,Pfam_domain:PF01392,SMART_domains:SM00063,Superfamily_domains:SSF63501																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	16	41308844	41308844	G	T	1	0	0	0	0	1	0	0	0	14440	1348	47	2		2	SFRP1	8	41308844	Missense_Mutation	SNP	G	C3L-00412_TP		41308844	103829792	54	6952											
PREX2	0	.	GRCh38	chr8	68134276	68134276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacttctgtcaccaaacttGgtaaggaaatcacatgactc	13	11	6	11	0	4	1	3	1	1	0	5	2	4	2	1	2	1	1	1	2	3	3	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.3984G>T	p.Leu1328Phe	p.L1328F	ENST00000288368	32/40	98	92	6	115	114	1	strelka-varscan-mutect	PREX2,missense_variant,p.Leu1328Phe,ENST00000288368,NM_024870.2;	T	ENST00000288368	Transcript	missense_variant,splice_region_variant	4261/10750	3984/4821	1328/1606	L/F	ttG/ttT		1		1	PREX2	HGNC	HGNC:22950	protein_coding	YES	CCDS6201.1	ENSP00000288368	Q70Z35		UPI0000375435	NM_024870.2	tolerated(0.06)		32/40		hmmpanther:PTHR22829:SF1,hmmpanther:PTHR22829																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	16	68134276	68134276	G	T	1	0	0	0	0	1	0	0	0	12611	1362	47	2		2	PREX2	8	68134276	Missense_Mutation	SNP	G	C3L-00412_TP	26825432	68134276	77004360	55	6953											
KIAA1429	0	.	GRCh38	chr8	94509750	94509750	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgttggcgaataacacTgtctccaggagaccgcacca	12	7	9	13	2	1	1	0	0	1	1	2	3	1	1	3	2	1	2	3	2	2	2	novel		C3L-00412_TP	C3L-00412_NB	T	T																c.3817A>C	p.Ser1273Arg	p.S1273R	ENST00000297591	15/24	177	165	12	179	179	0	strelka-varscan-mutect	KIAA1429,missense_variant,p.Ser1273Arg,ENST00000297591,NM_015496.4;KIAA1429,downstream_gene_variant,,ENST00000421249,NM_183009.2;KIAA1429,downstream_gene_variant,,ENST00000523405,;KIAA1429,missense_variant,p.Ser626Arg,ENST00000522263,;KIAA1429,non_coding_transcript_exon_variant,,ENST00000521080,;	G	ENST00000297591	Transcript	missense_variant	3893/6528	3817/5439	1273/1812	S/R	Agt/Cgt		1		-1	KIAA1429	HGNC	HGNC:24500	protein_coding	YES	CCDS34923.1	ENSP00000297591	Q69YN4		UPI00001BBB23	NM_015496.4	tolerated(0.05)		15/24		hmmpanther:PTHR23185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	16	94509750	94509750	T	G	1	0	0	0	0	1	0	0	0	8114	1580	55	5		5	KIAA1429	8	94509750	Missense_Mutation	SNP	T	C3L-00412_TP	26375474	94509750	50628886	56	6954											
PKHD1L1	0	.	GRCh38	chr8	109445335	109445335	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaagtaaaggcttggcTctgggaaacctgactgtcag	10	9	15	7	0	2	1	1	1	1	0	2	3	2	3	1	4	1	3	1	4	4	2	novel		C3L-00412_TP	C3L-00412_NB	T	T																c.5466T>A	p.=	p.A1822A	ENST00000378402	38/78	206	193	13	269	269	0	strelka-varscan-mutect	PKHD1L1,synonymous_variant,p.=,ENST00000378402,NM_177531.4;	A	ENST00000378402	Transcript	synonymous_variant	5570/13076	5466/12732	1822/4243	A	gcT/gcA		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4			38/78		Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	16	109445335	109445335	T	A	1	0	0	0	0	0	0	0	1	12068	1538	54	4		4	PKHD1L1	8	109445335	Silent	SNP	T	C3L-00412_TP	14935585	109445335	35693301	57	6955											
CSMD3	0	.	GRCh38	chr8	112656178	112656178	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataatgaatcttgaaaccatTattggaacgactgttgtctg	13	14	8	6	1	2	2	0	2	2	0	2	4	2	3	1	1	2	1	1	1	5	5			C3L-00412_TP	C3L-00412_NB	T	T																c.2980A>T	p.Asn994Tyr	p.N994Y	ENST00000297405	18/71	128	115	13	148	147	1	strelka-varscan-mutect	CSMD3,missense_variant,p.Asn994Tyr,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Asn954Tyr,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Asn890Tyr,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Asn334Tyr,ENST00000339701,;	A	ENST00000297405	Transcript	missense_variant	3225/13212	2980/11124	994/3707	N/Y	Aat/Tat	COSM5615934,COSM5615935	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	tolerated(0.18)		18/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	16	112656178	112656178	T	A	1	0	0	0	0	1	0	0	0	3747	1754	61	4		4	CSMD3	8	112656178	Missense_Mutation	SNP	T	C3L-00412_TP	3210843	112656178	32482458	58	6956											
SLC30A8	0	.	GRCh38	chr8	117172614	117172614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttacgatgcactcactcaCcattcagatggaatctccag	11	11	6	13	1	4	1	3	0	1	1	5	3	4	2	2	1	2	1	2	1	2	3			C3L-00412_TP	C3L-00412_NB	C	C																c.1043C>T	p.Thr348Ile	p.T348I	ENST00000456015	8/8	264	246	18	251	251	0	strelka-varscan-mutect	SLC30A8,missense_variant,p.Thr299Ile,ENST00000427715,NM_001172815.1,NM_001172813.1;SLC30A8,missense_variant,p.Thr299Ile,ENST00000519688,NM_001172814.1;SLC30A8,missense_variant,p.Thr348Ile,ENST00000456015,NM_173851.2;SLC30A8,missense_variant,p.Thr299Ile,ENST00000521243,NM_001172811.1;	T	ENST00000456015	Transcript	missense_variant	1043/2520	1043/1110	348/369	T/I	aCc/aTc	COSM3896334	1		1	SLC30A8	HGNC	HGNC:20303	protein_coding	YES	CCDS6322.1	ENSP00000415011	Q8IWU4		UPI00001B00D6	NM_173851.2	deleterious(0)		8/8		hmmpanther:PTHR11562:SF37,hmmpanther:PTHR11562,TIGRFAM_domain:TIGR01297,Superfamily_domains:SSF160240											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	16	117172614	117172614	C	T	1	0	0	0	0	1	0	0	0	14831	507	18	3		3	SLC30A8	8	117172614	Missense_Mutation	SNP	C	C3L-00412_TP	4516436	117172614	27966022	59	6957											
CA9	0	.	GRCh38	chr9	35679230	35679230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacatatctgcactcctgcCctctgacttcagccgctact	7	11	7	16	1	3	1	1	1	2	0	4	2	4	2	3	1	4	2	3	1	2	3	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.953C>A	p.Pro318His	p.P318H	ENST00000378357	7/11	187	175	12	237	236	1	strelka-varscan-mutect	CA9,missense_variant,p.Pro318His,ENST00000378357,NM_001216.2;CA9,missense_variant,p.Pro318His,ENST00000617161,;TPM2,downstream_gene_variant,,ENST00000378292,NM_213674.1;TPM2,downstream_gene_variant,,ENST00000378300,;TPM2,downstream_gene_variant,,ENST00000360958,NM_003289.3;TPM2,downstream_gene_variant,,ENST00000329305,NM_001301226.1;TPM2,downstream_gene_variant,,ENST00000607559,;CA9,non_coding_transcript_exon_variant,,ENST00000493245,;CA9,upstream_gene_variant,,ENST00000485665,;ARHGEF39,upstream_gene_variant,,ENST00000490638,;	A	ENST00000378357	Transcript	missense_variant	1057/1618	953/1380	318/459	P/H	cCc/cAc		1		1	CA9	HGNC	HGNC:1383	protein_coding	YES	CCDS6585.1	ENSP00000367608	Q16790	A0A0S2Z3D0	UPI000013E02C	NM_001216.2	deleterious(0)		7/11		Gene3D:3.10.200.10,Pfam_domain:PF00194,PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF18,SMART_domains:SM01057,Superfamily_domains:SSF51069																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	16	35679230	35679230	C	A	1	0	0	0	0	1	0	0	0	2210	623	22	2		2	CA9	9	35679230	Missense_Mutation	SNP	C	C3L-00412_TP		35679230	102715487	60	6958											
FRMPD1	0	.	GRCh38	chr9	37730994	37730994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatcgcaggtggtagaaaGggaggagtcacatgactacc	12	6	13	10	1	1	2	1	1	0	1	2	4	1	4	2	4	1	2	2	4	3	2	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.749G>T	p.Arg250Met	p.R250M	ENST00000539465	9/16	175	157	18	213	213	0	strelka-varscan-mutect	FRMPD1,missense_variant,p.Arg250Met,ENST00000539465,;FRMPD1,missense_variant,p.Arg250Met,ENST00000377765,NM_014907.2;RP11-613M10.9,intron_variant,,ENST00000540557,;	T	ENST00000539465	Transcript	missense_variant	1342/5465	749/4737	250/1578	R/M	aGg/aTg		1		1	FRMPD1	HGNC	HGNC:29159	protein_coding	YES	CCDS6612.1	ENSP00000444411	Q5SYB0		UPI000013D2CC		deleterious(0)		9/16		PROSITE_profiles:PS50057,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF346,SMART_domains:SM00295,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	16	37730994	37730994	G	T	1	0	0	0	0	1	0	0	0	5927	1000	35	2		2	FRMPD1	9	37730994	Missense_Mutation	SNP	G	C3L-00412_TP	2051764	37730994	100663723	61	6959											
TLR4	0	.	GRCh38	chr9	117713562	117713562	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctcgaagtcttgaaaatGgctggcaattctttccagga	11	12	10	8	1	3	1	0	1	3	0	5	3	4	2	1	3	0	2	1	3	4	3	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.1434G>C	p.Met478Ile	p.M478I	ENST00000355622	3/3	153	144	9	173	173	0	strelka-varscan-mutect	TLR4,missense_variant,p.Met478Ile,ENST00000355622,NM_138554.4;TLR4,missense_variant,p.Met438Ile,ENST00000394487,NM_003266.3;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,downstream_gene_variant,,ENST00000490685,;	C	ENST00000355622	Transcript	missense_variant	1535/4844	1434/2520	478/839	M/I	atG/atC		1		1	TLR4	HGNC	HGNC:11850	protein_coding	YES	CCDS6818.1	ENSP00000363089	O00206		UPI0000137057	NM_138554.4	deleterious(0.03)		3/3		hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	16	117713562	117713562	G	C	1	0	0	0	0	1	0	0	0	16399	1348	47	4		4	TLR4	9	117713562	Missense_Mutation	SNP	G	C3L-00412_TP	79982568	117713562	20681155	62	6960											
PTGS1	0	.	GRCh38	chr9	122386583	122386583	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgccatggagttcaaccatCtctaccactggcaccccctc	8	10	6	17	0	2	0	1	0	1	0	4	1	2	1	5	2	3	2	5	2	2	3	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.1147C>G	p.Leu383Val	p.L383V	ENST00000362012	9/11	483	453	30	483	483	0	strelka-varscan-mutect	PTGS1,missense_variant,p.Leu358Val,ENST00000540753,NM_001271368.1;PTGS1,missense_variant,p.Leu414Val,ENST00000619306,;PTGS1,missense_variant,p.Leu274Val,ENST00000373698,NM_001271166.1,NM_001271367.1,NM_001271165.1;PTGS1,missense_variant,p.Leu383Val,ENST00000362012,NM_000962.3;PTGS1,missense_variant,p.Leu335Val,ENST00000614910,NM_001271164.1;PTGS1,missense_variant,p.Leu383Val,ENST00000223423,NM_080591.2;PTGS1,downstream_gene_variant,,ENST00000426608,;	G	ENST00000362012	Transcript	missense_variant	1152/4964	1147/1800	383/599	L/V	Ctc/Gtc		1		1	PTGS1	HGNC	HGNC:9604	protein_coding	YES	CCDS6842.1	ENSP00000354612	P23219		UPI0000161DAC	NM_000962.3	deleterious(0.01)		9/11		PROSITE_profiles:PS50292,hmmpanther:PTHR11903:SF6,hmmpanther:PTHR11903,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	16	122386583	122386583	C	G	1	0	0	0	0	1	0	0	0	12911	913	32	4		4	PTGS1	9	122386583	Missense_Mutation	SNP	C	C3L-00412_TP	4673021	122386583	16008134	63	6961											
ITIH5	0	.	GRCh38	chr10	7637436	7637436	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcggctttgtccttgctGggaatcactgcagaagctct	8	11	12	10	1	2	1	1	0	1	1	3	2	3	2	1	3	3	4	1	3	3	2			C3L-00412_TP	C3L-00412_NB	G	G																c.444C>A	p.=	p.P148P	ENST00000397146	5/14	163	146	17	202	202	0	varscan-mutect	ITIH5,synonymous_variant,p.=,ENST00000397146,NM_030569.6;ITIH5,synonymous_variant,p.=,ENST00000397145,NM_001001851.2;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;	T	ENST00000397146	Transcript	synonymous_variant	523/6721	444/2829	148/942	P	ccC/ccA	COSM1506154,COSM5278921,COSM5278922,COSM5307762	1		-1	ITIH5	HGNC	HGNC:21449	protein_coding	YES		ENSP00000380333		C9J2H1	UPI000014D02E	NM_030569.6			5/14		PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF62,Pfam_domain:PF08487,SMART_domains:SM00609											1,1,1,1						LOW	1	SNV	1		1,1,1,1	1										PASS		.	.												T	2	4	16	7637436	7637436	G	T	1	0	0	0	0	0	0	0	1	7813	1335	47	2		2	ITIH5	10	7637436	Silent	SNP	G	C3L-00412_TP		7637436	126159986	64	6962											
ITGA8	0	.	GRCh38	chr10	15647050	15647050	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaccaggacatcatccaGtctgtaaggaacaaagaaag	17	5	8	11	0	2	1	1	0	1	1	3	3	3	3	3	2	2	1	3	2	5	1	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.1003C>G	p.Leu335Val	p.L335V	ENST00000378076	12/30	123	112	11	146	146	0	strelka-varscan-mutect	ITGA8,missense_variant,p.Leu335Val,ENST00000378076,NM_003638.2,NM_001291494.1;ITGA8,upstream_gene_variant,,ENST00000468882,;	C	ENST00000378076	Transcript	missense_variant,splice_region_variant	1357/6755	1003/3192	335/1063	L/V	Ctg/Gtg		1		-1	ITGA8	HGNC	HGNC:6144	protein_coding	YES	CCDS31155.1	ENSP00000367316	P53708		UPI00001D80A0	NM_003638.2,NM_001291494.1	deleterious(0.02)		12/30		Gene3D:3nigC00,Pfam_domain:PF01839,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,SMART_domains:SM00191,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	16	15647050	15647050	G	C	1	0	0	0	0	1	0	0	0	7789	1043	36	4		4	ITGA8	10	15647050	Missense_Mutation	SNP	G	C3L-00412_TP	8009614	15647050	118150372	65	6963											
PCDH15	0	.	GRCh38	chr10	54066820	54066820	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataaatttcttggcagataAggatcaaacactggagcatt	15	11	9	6	0	2	1	1	0	1	1	2	4	2	3	0	3	2	2	0	3	4	5	novel		C3L-00412_TP	C3L-00412_NB	A	A																c.2172T>A	p.=	p.P724P	ENST00000373957	19/35	288	262	26	270	270	0	strelka-varscan-mutect	PCDH15,synonymous_variant,p.=,ENST00000614895,;PCDH15,synonymous_variant,p.=,ENST00000373965,NM_001142772.1;PCDH15,synonymous_variant,p.=,ENST00000414778,;PCDH15,synonymous_variant,p.=,ENST00000617051,;PCDH15,synonymous_variant,p.=,ENST00000373957,NM_001142763.1;PCDH15,synonymous_variant,p.=,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,synonymous_variant,p.=,ENST00000395430,NM_001142766.1;PCDH15,synonymous_variant,p.=,ENST00000395433,NM_001142773.1;PCDH15,synonymous_variant,p.=,ENST00000395432,NM_001142767.1;PCDH15,synonymous_variant,p.=,ENST00000320301,NM_033056.3;PCDH15,synonymous_variant,p.=,ENST00000622048,;PCDH15,synonymous_variant,p.=,ENST00000437009,NM_001142765.1;PCDH15,synonymous_variant,p.=,ENST00000617271,NM_001142770.1;PCDH15,synonymous_variant,p.=,ENST00000613657,NM_001142769.1;PCDH15,synonymous_variant,p.=,ENST00000395445,;PCDH15,synonymous_variant,p.=,ENST00000616114,;PCDH15,synonymous_variant,p.=,ENST00000395438,;PCDH15,synonymous_variant,p.=,ENST00000612394,;PCDH15,synonymous_variant,p.=,ENST00000621708,NM_001142771.1;PCDH15,synonymous_variant,p.=,ENST00000409834,;PCDH15,synonymous_variant,p.=,ENST00000373955,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	T	ENST00000373957	Transcript	synonymous_variant	2567/7032	2172/5889	724/1962	P	ccT/ccA		1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1			19/35		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,Superfamily_domains:SSF49313																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	16	54066820	54066820	A	T	1	0	0	0	0	0	0	0	1	11598	59	3	4		4	PCDH15	10	54066820	Silent	SNP	A	C3L-00412_TP	38419770	54066820	79730602	66	6964											
LRIT1	0	.	GRCh38	chr10	84232566	84232566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctcccagggcatccatCtggaagtgctcaagggtcag	9	8	12	12	0	4	0	2	0	2	0	6	1	5	1	2	3	2	3	2	3	2	0	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.1233G>T	p.Gln411His	p.Q411H	ENST00000372105	4/4	99	91	8	145	144	1	strelka-mutect	LRIT1,missense_variant,p.Gln411His,ENST00000372105,NM_015613.2;	A	ENST00000372105	Transcript	missense_variant	1255/2228	1233/1872	411/623	Q/H	caG/caT		1		-1	LRIT1	HGNC	HGNC:23404	protein_coding	YES	CCDS7373.1	ENSP00000361177	Q9P2V4		UPI000006F66C	NM_015613.2	tolerated(0.18)		4/4		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	16	84232566	84232566	C	A	1	0	0	0	0	1	0	0	0	8842	912	32	2		2	LRIT1	10	84232566	Missense_Mutation	SNP	C	C3L-00412_TP	30165746	84232566	49564856	67	6965											
TCERG1L	0	.	GRCh38	chr10	131146585	131146585	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggtccttcaggtccatGggcttctcccagacagacag	7	8	11	15	2	2	2	1	0	1	2	5	2	4	2	4	3	0	1	4	3	0	2	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.1110C>A	p.=	p.P370P	ENST00000368642	7/12	129	117	12	124	124	0	strelka-varscan-mutect	TCERG1L,synonymous_variant,p.=,ENST00000368642,NM_174937.3;TCERG1L,non_coding_transcript_exon_variant,,ENST00000483040,;	T	ENST00000368642	Transcript	synonymous_variant	1196/2618	1110/1761	370/586	P	ccC/ccA		1		-1	TCERG1L	HGNC	HGNC:23533	protein_coding	YES	CCDS7662.2	ENSP00000357631	Q5VWI1		UPI00004589C8	NM_174937.3			7/12		Gene3D:2.20.70.10,PROSITE_profiles:PS50020,hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF5,SMART_domains:SM00456,Superfamily_domains:SSF51045																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	16	131146585	131146585	G	T	1	0	0	0	0	0	0	0	1	16093	1335	47	2		2	TCERG1L	10	131146585	Silent	SNP	G	C3L-00412_TP	46914019	131146585	2650837	68	6966											
ADAM8	0	.	GRCh38	chr10	133269454	133269454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaggcctacctgcgtgcaCctcagtcagcagcttcgcgc	6	7	13	15	3	2	0	2	0	0	0	3	1	2	1	3	2	5	3	3	2	1	2	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.1939G>T	p.Val647Leu	p.V647L	ENST00000445355	18/23	57	52	5	86	86	0	strelka-mutect	ADAM8,missense_variant,p.Val647Leu,ENST00000445355,NM_001109.4;ADAM8,missense_variant,p.Val647Leu,ENST00000415217,NM_001164489.1;ADAM8,missense_variant,p.Val582Leu,ENST00000485491,NM_001164490.1;ADAM8,downstream_gene_variant,,ENST00000486609,;ADAM8,downstream_gene_variant,,ENST00000559180,;ADAM8,downstream_gene_variant,,ENST00000537099,;ADAM8,downstream_gene_variant,,ENST00000463298,;ADAM8,downstream_gene_variant,,ENST00000560135,;ADAM8,downstream_gene_variant,,ENST00000468964,;ADAM8,downstream_gene_variant,,ENST00000561175,;	A	ENST00000445355	Transcript	missense_variant	1990/3279	1939/2475	647/824	V/L	Gtg/Ttg		1		-1	ADAM8	HGNC	HGNC:215	protein_coding	YES	CCDS31319.2	ENSP00000453302	P78325		UPI0001AE6E16	NM_001109.4	tolerated(0.31)		18/23		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF20																	MODERATE	1	SNV	1			1										PASS		rs1368170154	.												A	3	1	16	133269454	133269454	C	A	1	0	0	0	0	1	0	0	0	296	507	18	2		2	ADAM8	10	133269454	Missense_Mutation	SNP	C	C3L-00412_TP	2122869	133269454	527968	69	6967											
RASSF7	0	.	GRCh38	chr11	562642	562642	+	Frame_Shift_Del	DEL	C	C	-																															tggcagcggaggcccctgggCccccctcacctatggcatct																								rs866584869		C3L-00412_TP	C3L-00412_NB	C	C																c.693delC	p.Ser232HisfsTer31	p.S232Hfs*31	ENST00000397583	3/6	148	137	11	170	170	0	sindel-varindel-pindel	RASSF7,frameshift_variant,p.Ser232HisfsTer31,ENST00000397583,NM_003475.3;RASSF7,frameshift_variant,p.Ser232HisfsTer31,ENST00000431809,;RASSF7,frameshift_variant,p.Ser232HisfsTer31,ENST00000397582,NM_001143993.1;RASSF7,frameshift_variant,p.Ser232HisfsTer31,ENST00000454668,NM_001143994.1;LMNTD2,upstream_gene_variant,,ENST00000329451,NM_173573.2;LMNTD2,upstream_gene_variant,,ENST00000441853,;LMNTD2,upstream_gene_variant,,ENST00000486629,;RASSF7,downstream_gene_variant,,ENST00000528736,;MIR210HG,downstream_gene_variant,,ENST00000500447,;MIR210HG,downstream_gene_variant,,ENST00000533920,;MIR210HG,downstream_gene_variant,,ENST00000528245,;MIR210HG,downstream_gene_variant,,ENST00000534540,;RP11-496I9.1,downstream_gene_variant,,ENST00000527620,;RP11-496I9.1,downstream_gene_variant,,ENST00000533844,;RP11-496I9.1,downstream_gene_variant,,ENST00000527113,;RASSF7,downstream_gene_variant,,ENST00000524468,;RASSF7,frameshift_variant,p.Ser89HisfsTer31,ENST00000531112,;RASSF7,3_prime_UTR_variant,,ENST00000414138,;LMNTD2,upstream_gene_variant,,ENST00000492515,;	-	ENST00000397583	Transcript	frameshift_variant	1121/1928	688/1122	230/373	P/X	Ccc/cc	rs866584869	1		1	RASSF7	HGNC	HGNC:1166	protein_coding	YES	CCDS7702.1	ENSP00000380713	Q02833	A0A024RCE4	UPI0000127A61	NM_003475.3			3/6		hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF11																	HIGH	1	deletion	1	5		1										PASS		.	.												-	7	5	16	562642	562642	C	-	1	0	1	0	1	0	0	0	0	13252	739	26	0		0	RASSF7	11	562642	Frame_Shift_Del	DEL	C	C3L-00412_TP		562642	134523980	70	6968											
DRD4	0	.	GRCh38	chr11	637368	637368	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcgcgggccggccgcggggGcatctgcgggggcatctgcg	2	4	22	13	7	2	0	0	0	2	0	2	0	2	0	2	7	2	2	2	7	0	0	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.64G>C	p.Ala22Pro	p.A22P	ENST00000176183	1/4	39	35	4	21	21	0	strelka-mutect	DRD4,missense_variant,p.Ala22Pro,ENST00000176183,NM_000797.3;DRD4,upstream_gene_variant,,ENST00000528733,;	C	ENST00000176183	Transcript	missense_variant	76/1375	64/1260	22/419	A/P	Gca/Cca		1		1	DRD4	HGNC	HGNC:3025	protein_coding	YES	CCDS7710.1	ENSP00000176183	P21917		UPI000011F17B	NM_000797.3	tolerated(0.28)		1/4		hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF37,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1012641552	.												C	3	2	16	637368	637368	G	C	1	0	0	0	0	1	0	0	0	4578	1203	42	4		4	DRD4	11	637368	Missense_Mutation	SNP	G	C3L-00412_TP	74726	637368	134449254	71	6969											
ABCC8	0	.	GRCh38	chr11	17397708	17397708	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggcgtaggtaaggcccagGcccaccaggccagcagagag	11	2	16	12	1	0	1	0	0	0	1	0	2	0	1	4	5	1	3	4	5	2	2	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.3846C>A	p.=	p.G1282G	ENST00000302539	31/39	392	364	28	387	387	0	strelka-varscan-mutect	ABCC8,synonymous_variant,p.=,ENST00000302539,NM_001287174.1;ABCC8,synonymous_variant,p.=,ENST00000389817,NM_000352.4;ABCC8,synonymous_variant,p.=,ENST00000528374,;ABCC8,3_prime_UTR_variant,,ENST00000527905,;ABCC8,3_prime_UTR_variant,,ENST00000531891,;ABCC8,non_coding_transcript_exon_variant,,ENST00000531137,;ABCC8,upstream_gene_variant,,ENST00000531642,;ABCC8,upstream_gene_variant,,ENST00000525022,;ABCC8,upstream_gene_variant,,ENST00000526037,;ABCC8,upstream_gene_variant,,ENST00000532220,;ABCC8,upstream_gene_variant,,ENST00000526168,;	T	ENST00000302539	Transcript	synonymous_variant	3915/4923	3846/4749	1282/1582	G	ggC/ggA		1		-1	ABCC8	HGNC	HGNC:59	protein_coding	YES	CCDS73264.1	ENSP00000303960	Q09428		UPI00015DFF64	NM_001287174.1			31/39		Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF187,Superfamily_domains:SSF90123,Transmembrane_helices:TMhelix																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	16	17397708	17397708	G	T	1	0	0	0	0	0	0	0	1	62	1190	42	2		2	ABCC8	11	17397708	Silent	SNP	G	C3L-00412_TP	16760340	17397708	117688914	72	6970											
OR5J2	0	.	GRCh38	chr11	56176779	56176779	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaatccaaatcacctccaaActccacacacccatgtactt	14	10	1	16	0	1	0	1	0	0	0	4	0	4	0	5	0	2	1	5	0	4	3			C3L-00412_TP	C3L-00412_NB	A	A																c.162A>G	p.=	p.K54K	ENST00000312298	1/1	128	116	12	118	118	0	strelka-varscan-mutect	OR5J2,synonymous_variant,p.=,ENST00000312298,NM_001005492.1;	G	ENST00000312298	Transcript	synonymous_variant	162/939	162/939	54/312	K	aaA/aaG	COSM4145825	1		1	OR5J2	HGNC	HGNC:19612	protein_coding	YES	CCDS31522.1	ENSP00000310788	Q8NH18	A0A126GVP0	UPI000004B232	NM_001005492.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF343,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						LOW	1	SNV			1	1										PASS		.	.												G	2	3	16	56176779	56176779	A	G	1	0	0	0	0	0	0	0	1	11235	40	2	5		5	OR5J2	11	56176779	Silent	SNP	A	C3L-00412_TP	38779071	56176779	78909843	73	6971											
SLC22A6	0	.	GRCh38	chr11	62977304	62977304	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagagaggcatggaggggTagagctcggcagtcatgctc	10	7	17	7	1	1	3	1	1	0	2	3	5	1	4	0	5	2	5	0	5	2	1	novel		C3L-00412_TP	C3L-00412_NB	T	T																c.1445A>T	p.Tyr482Phe	p.Y482F	ENST00000377871	9/10	348	321	27	450	450	0	strelka-varscan-mutect	SLC22A6,missense_variant,p.Tyr482Phe,ENST00000377871,NM_004790.4;SLC22A6,missense_variant,p.Tyr482Phe,ENST00000360421,NM_153276.2;SLC22A6,intron_variant,,ENST00000421062,NM_153278.2;SLC22A6,intron_variant,,ENST00000458333,NM_153277.2;SLC22A6,downstream_gene_variant,,ENST00000537349,;SLC22A6,3_prime_UTR_variant,,ENST00000540654,;	A	ENST00000377871	Transcript	missense_variant	1712/2151	1445/1692	482/563	Y/F	tAc/tTc		1		-1	SLC22A6	HGNC	HGNC:10970	protein_coding	YES	CCDS31591.1	ENSP00000367102	Q4U2R8		UPI00000747EC	NM_004790.4	tolerated(0.59)		9/10		PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF231,Gene3D:1.20.1250.20,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00898,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		rs938308762	.												A	3	1	16	62977304	62977304	T	A	1	0	0	0	0	1	0	0	0	14724	1638	57	4		4	SLC22A6	11	62977304	Missense_Mutation	SNP	T	C3L-00412_TP	6800525	62977304	72109318	74	6972											
CCDC88B	0	.	GRCh38	chr11	64343238	64343238	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgctggaagagcagctGgaggctgcccgagagcgctg	7	5	18	11	3	0	2	0	0	0	2	0	5	0	4	1	3	5	6	1	3	1	0	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.1122G>T	p.=	p.L374L	ENST00000356786	11/27	123	114	9	139	139	0	strelka-varscan-mutect	CCDC88B,synonymous_variant,p.=,ENST00000356786,NM_032251.5;MIR7155,upstream_gene_variant,,ENST00000615925,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000463837,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000494080,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000494566,;CCDC88B,upstream_gene_variant,,ENST00000492980,;	T	ENST00000356786	Transcript	synonymous_variant	1166/4915	1122/4431	374/1476	L	ctG/ctT		1		1	CCDC88B	HGNC	HGNC:26757	protein_coding	YES	CCDS8072.2	ENSP00000349238	A6NC98		UPI00001FAAA6	NM_032251.5			11/27		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947:SF35,hmmpanther:PTHR18947,Pfam_domain:PF05622																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	16	64343238	64343238	G	T	1	0	0	0	0	0	0	0	1	2563	1335	47	2		2	CCDC88B	11	64343238	Silent	SNP	G	C3L-00412_TP	1365934	64343238	70743384	75	6973											
ARHGAP42	0	.	GRCh38	chr11	100913535	100913535	+	Frame_Shift_Del	DEL	G	G	-																															aatttgtccgcaaagaaaaaGgagtctcatttacaagaggt																								novel		C3L-00412_TP	C3L-00412_NB	G	G																c.469delG	p.Glu157SerfsTer23	p.E157Sfs*23	ENST00000298815	5/24	97	92	5	93	93	0	varindel-pindel	ARHGAP42,frameshift_variant,p.Glu157SerfsTer23,ENST00000298815,NM_152432.2;ARHGAP42,frameshift_variant,p.Glu13SerfsTer23,ENST00000531183,;ARHGAP42,intron_variant,,ENST00000524892,;ARHGAP42,downstream_gene_variant,,ENST00000534060,;ARHGAP42,downstream_gene_variant,,ENST00000529406,;	-	ENST00000298815	Transcript	frameshift_variant	471/4752	468/2625	156/874	K/X	aaG/aa		1		1	ARHGAP42	HGNC	HGNC:26545	protein_coding	YES		ENSP00000298815	A6NI28		UPI00005778C9	NM_152432.2			5/24		hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF3,Gene3D:1y2oA00,Pfam_domain:PF16746,Superfamily_domains:SSF103657																	HIGH	1	deletion	5	1		1										PASS		.	.												-	7	5	16	100913535	100913535	G	-	1	0	1	0	1	0	0	0	0	1013	991	35	0		0	ARHGAP42	11	100913535	Frame_Shift_Del	DEL	G	C3L-00412_TP	36570297	100913535	34173087	76	6974											
OR8G5	0	.	GRCh38	chr11	124265081	124265081	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcatgatcacactgattggGctcagttctcacctgcacac	9	10	9	13	0	3	2	3	2	1	0	4	2	3	2	1	2	1	4	1	2	0	2	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.255G>T	p.=	p.G85G	ENST00000524943	1/1	241	224	17	336	335	1	varscan-mutect	OR8G5,synonymous_variant,p.=,ENST00000524943,NM_001005198.1;	T	ENST00000524943	Transcript	synonymous_variant	255/1041	255/1041	85/346	G	ggG/ggT		1		1	OR8G5	HGNC	HGNC:19622	protein_coding	YES	CCDS66256.1	ENSP00000477014	Q8NG78	A0A126GVX5	UPI00003B286B	NM_001005198.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF73,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	16	124265081	124265081	G	T	1	0	0	0	0	0	0	0	1	11304	1190	42	2		2	OR8G5	11	124265081	Silent	SNP	G	C3L-00412_TP	23351546	124265081	10821541	77	6975											
CACNA1C	0	.	GRCh38	chr12	2653883	2653883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctgttcttcatctacGcggtgatcgggatgcaggta	7	13	13	8	3	3	2	1	2	2	0	4	3	3	3	0	3	3	4	0	3	2	4	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.4267G>A	p.Ala1423Thr	p.A1423T	ENST00000347598	35/49	156	145	11	165	165	0	strelka-mutect	CACNA1C,missense_variant,p.Ala1375Thr,ENST00000399655,NM_000719.6;CACNA1C,missense_variant,p.Ala1375Thr,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Ala1375Thr,ENST00000406454,;CACNA1C,missense_variant,p.Ala1375Thr,ENST00000399617,NM_001167624.2;CACNA1C,missense_variant,p.Ala1375Thr,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Ala1400Thr,ENST00000335762,;CACNA1C,missense_variant,p.Ala1423Thr,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,missense_variant,p.Ala1397Thr,ENST00000344100,NM_001129829.1;CACNA1C,missense_variant,p.Ala1375Thr,ENST00000327702,NM_001129830.2;CACNA1C,missense_variant,p.Ala1403Thr,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Ala1395Thr,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Ala1375Thr,ENST00000399621,NM_001129834.1;CACNA1C,missense_variant,p.Ala1375Thr,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Ala1375Thr,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Ala1392Thr,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Ala1364Thr,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,missense_variant,p.Ala1364Thr,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Ala1362Thr,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Ala1375Thr,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,missense_variant,p.Ala1375Thr,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Ala1375Thr,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Ala1375Thr,ENST00000399644,NM_001129841.1;CACNA1C,missense_variant,p.Ala66Thr,ENST00000616390,;CACNA1C,downstream_gene_variant,,ENST00000483136,;CACNA1C,non_coding_transcript_exon_variant,,ENST00000492150,;	A	ENST00000347598	Transcript	missense_variant	4267/6655	4267/6561	1423/2186	A/T	Gcg/Acg		1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3	deleterious(0)		35/49		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	16	2653883	2653883	G	A	1	0	0	0	0	1	0	0	0	2228	1087	38	1		1	CACNA1C	12	2653883	Missense_Mutation	SNP	G	C3L-00412_TP		2653883	130621426	78	6976											
SLC15A5	0	.	GRCh38	chr12	16257743	16257743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtagtatatcatatgaaGagttatcacagccataagca	15	12	8	6	0	2	2	2	1	0	1	2	2	2	2	1	0	2	5	1	0	7	7	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.712C>A	p.Leu238Ile	p.L238I	ENST00000344941	3/9	99	91	8	88	88	0	strelka-varscan-mutect	SLC15A5,missense_variant,p.Leu238Ile,ENST00000344941,NM_001170798.1;	T	ENST00000344941	Transcript	missense_variant	712/2923	712/1740	238/579	L/I	Ctt/Att		1		-1	SLC15A5	HGNC	HGNC:33455	protein_coding	YES		ENSP00000340402	A6NIM6		UPI0000DD8132	NM_001170798.1	tolerated(0.65)		3/9		Pfam_domain:PF00854,hmmpanther:PTHR11654,hmmpanther:PTHR11654:SF91,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	16	16257743	16257743	G	T	1	0	0	0	0	1	0	0	0	14667	942	33	2		2	SLC15A5	12	16257743	Missense_Mutation	SNP	G	C3L-00412_TP	13603860	16257743	117017566	79	6977											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3L-00412_TP	C3L-00412_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	348	320	28	268	268	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												A	3	1	16	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	C3L-00412_TP	8987608	25245351	108029958	80	6978											
LGR5	0	.	GRCh38	chr12	71583910	71583910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtgcctggtgggagaatGgggttggttgccatgtcatt	6	13	17	5	0	1	1	1	0	0	1	1	2	1	1	2	6	2	2	2	6	1	3	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.1900G>T	p.Gly634Trp	p.G634W	ENST00000266674	18/18	254	240	14	282	281	1	strelka-varscan-mutect	LGR5,missense_variant,p.Gly634Trp,ENST00000266674,NM_003667.3;LGR5,missense_variant,p.Gly610Trp,ENST00000540815,NM_001277226.1;LGR5,missense_variant,p.Gly562Trp,ENST00000536515,NM_001277227.1;RP11-186F10.2,upstream_gene_variant,,ENST00000546601,;LGR5,splice_region_variant,,ENST00000550851,;LGR5,downstream_gene_variant,,ENST00000547310,;	T	ENST00000266674	Transcript	missense_variant	2211/4611	1900/2724	634/907	G/W	Ggg/Tgg		1		1	LGR5	HGNC	HGNC:4504	protein_coding	YES	CCDS9000.1	ENSP00000266674	O75473	A0A0A8K8C7	UPI000004B65C	NM_003667.3	deleterious(0)		18/18		Gene3D:1.20.1070.10,Prints_domain:PR00373,PROSITE_profiles:PS50262,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF259,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	16	71583910	71583910	G	T	1	0	0	0	0	1	0	0	0	8667	1348	47	2		2	LGR5	12	71583910	Missense_Mutation	SNP	G	C3L-00412_TP	46338559	71583910	61691399	81	6979											
ACACB	0	.	GRCh38	chr12	109167939	109167939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccgccgtgaagtgcatgcGctccatccgcaggtgggcct	5	8	14	14	4	0	1	0	1	0	0	2	1	2	1	5	2	3	3	5	2	1	0	rs773787420		C3L-00412_TP	C3L-00412_NB	G	G																c.830G>T	p.Arg277Leu	p.R277L	ENST00000338432	4/53	219	205	14	190	190	0	strelka-varscan-mutect	ACACB,missense_variant,p.Arg277Leu,ENST00000338432,;ACACB,missense_variant,p.Arg277Leu,ENST00000377848,NM_001093.3;ACACB,missense_variant,p.Arg75Leu,ENST00000544726,;ACACB,5_prime_UTR_variant,,ENST00000377854,;ACACB,downstream_gene_variant,,ENST00000546328,;	T	ENST00000338432	Transcript	missense_variant	949/9360	830/7377	277/2458	R/L	cGc/cTc	rs773787420,COSM278567	1		1	ACACB	HGNC	HGNC:85	protein_coding	YES	CCDS31898.1	ENSP00000341044	O00763		UPI0000DBEEFB		deleterious(0)		4/53		PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF94,hmmpanther:PTHR18866,Pfam_domain:PF00289,Gene3D:3.40.50.20,Superfamily_domains:SSF52440											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs773787420	.												T	3	4	16	109167939	109167939	G	T	1	0	0	0	0	1	0	0	0	150	1087	38	1		1	ACACB	12	109167939	Missense_Mutation	SNP	G	C3L-00412_TP	37584029	109167939	24107370	82	6980											
EP400	0	.	GRCh38	chr12	131982416	131982416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcctgcacagctggccCtccacgttcccacacctgga	7	6	9	19	2	0	0	0	0	0	0	2	1	2	1	5	2	3	4	5	2	0	1	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.1867C>T	p.Leu623Phe	p.L623F	ENST00000389562	4/52	94	88	6	127	127	0	strelka-mutect	EP400,missense_variant,p.Leu623Phe,ENST00000389562,;EP400,missense_variant,p.Leu623Phe,ENST00000389561,NM_015409.4;EP400,missense_variant,p.Leu659Phe,ENST00000333577,;EP400,missense_variant,p.Leu586Phe,ENST00000332482,;	T	ENST00000389562	Transcript	missense_variant	1902/12836	1867/9372	623/3123	L/F	Ctc/Ttc		1		1	EP400	HGNC	HGNC:11958	protein_coding	YES	CCDS31929.2	ENSP00000374213	Q96L91		UPI00004566BC		tolerated_low_confidence(0.07)		4/52		Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	16	131982416	131982416	C	T	1	0	0	0	0	1	0	0	0	4995	681	24	3		3	EP400	12	131982416	Missense_Mutation	SNP	C	C3L-00412_TP	22814477	131982416	1292893	83	6981											
FARP1	0	.	GRCh38	chr13	98213411	98213411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccaggaggcatttgaagttCcagtaagttgggggcttatc	9	11	13	8	0	0	1	0	1	0	0	2	2	1	2	2	4	0	5	2	4	3	5			C3L-00412_TP	C3L-00412_NB	C	C																c.169C>T	p.Pro57Ser	p.P57S	ENST00000627049	2/28	120	114	6	89	89	0	strelka-varscan-mutect	FARP1,missense_variant,p.Pro57Ser,ENST00000596580,;FARP1,missense_variant,p.Pro57Ser,ENST00000319562,NM_005766.3;FARP1,missense_variant,p.Pro57Ser,ENST00000627049,;FARP1,missense_variant,p.Pro57Ser,ENST00000595437,NM_001286839.1;FARP1,missense_variant,p.Pro57Ser,ENST00000376581,NM_001001715.3;FARP1,missense_variant,p.Pro57Ser,ENST00000598389,;MIR3170,downstream_gene_variant,,ENST00000582699,;FARP1,downstream_gene_variant,,ENST00000600648,;	T	ENST00000627049	Transcript	missense_variant,splice_region_variant	587/5103	169/3231	57/1076	P/S	Cca/Tca	COSM1368142,COSM1368143,COSM1368144	1		1	FARP1	HGNC	HGNC:3591	protein_coding	YES	CCDS66572.1	ENSP00000486285		C9JME2	UPI000041C6E3		tolerated(0.37)		2/28		PROSITE_profiles:PS50057,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF105,Pfam_domain:PF09379,Gene3D:3.10.20.90,SMART_domains:SM00295,Superfamily_domains:SSF54236,Prints_domain:PR00661											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												T	3	4	16	98213411	98213411	C	T	1	0	0	0	0	1	0	0	0	5536	869	30	3		3	FARP1	13	98213411	Missense_Mutation	SNP	C	C3L-00412_TP		98213411	16150917	84	6982											
COL4A1	0	.	GRCh38	chr13	110186520	110186520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggaatccaactcctccagGggggccacgctctcctttca	7	9	10	15	1	2	0	1	0	1	0	6	1	5	1	5	4	1	1	5	4	2	1	rs760702058		C3L-00412_TP	C3L-00412_NB	G	G																c.1762C>A	p.Pro588Thr	p.P588T	ENST00000375820	26/52	101	89	12	109	109	0	strelka-varscan-mutect	COL4A1,missense_variant,p.Pro588Thr,ENST00000375820,NM_001845.5;COL4A1,downstream_gene_variant,,ENST00000543140,NM_001303110.1;	T	ENST00000375820	Transcript	missense_variant	1884/6532	1762/5010	588/1669	P/T	Cct/Act	rs760702058	1		-1	COL4A1	HGNC	HGNC:2202	protein_coding	YES	CCDS9511.1	ENSP00000364979	P02462		UPI000004981D	NM_001845.5	tolerated(0.09)		26/52		Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		rs760702058	.												T	3	4	16	110186520	110186520	G	T	1	0	0	0	0	1	0	0	0	3478	1232	43	2		2	COL4A1	13	110186520	Missense_Mutation	SNP	G	C3L-00412_TP	11973109	110186520	4177808	85	6983											
NUBPL	0	.	GRCh38	chr14	31850178	31850178	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacaggccagccaattgtgTtttcacagcctgaaagtgat	12	11	9	9	0	1	2	1	2	0	0	1	2	1	2	3	1	3	1	3	1	3	4	novel		C3L-00412_TP	C3L-00412_NB	T	T																c.874T>C	p.Phe292Leu	p.F292L	ENST00000281081	10/11	381	358	23	390	390	0	strelka-varscan-mutect	NUBPL,missense_variant,p.Phe292Leu,ENST00000281081,NM_025152.2;NUBPL,missense_variant,p.Phe158Leu,ENST00000550649,;NUBPL,non_coding_transcript_exon_variant,,ENST00000418681,;NUBPL,downstream_gene_variant,,ENST00000551015,;NUBPL,3_prime_UTR_variant,,ENST00000547839,;NUBPL,non_coding_transcript_exon_variant,,ENST00000552888,;	C	ENST00000281081	Transcript	missense_variant	919/3049	874/960	292/319	F/L	Ttt/Ctt		1		1	NUBPL	HGNC	HGNC:20278	protein_coding	YES	CCDS41940.1	ENSP00000281081	Q8TB37	X5D2R5	UPI00003669AB	NM_025152.2	tolerated(0.08)		10/11		HAMAP:MF_02040,hmmpanther:PTHR23264:SF31,hmmpanther:PTHR23264,Pfam_domain:PF10609,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	16	31850178	31850178	T	C	1	0	0	0	0	1	0	0	0	10783	1725	60	5		5	NUBPL	14	31850178	Missense_Mutation	SNP	T	C3L-00412_TP		31850178	75193540	86	6984											
YLPM1	0	.	GRCh38	chr14	74817072	74817072	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagttaggcattttgacCagttttggagtgcagcaaaa	13	11	11	6	0	0	2	0	1	0	1	0	3	0	3	1	2	2	5	1	2	3	5	rs752467058		C3L-00412_TP	C3L-00412_NB	C	C																c.5827C>T	p.Gln1943Ter	p.Q1943*	ENST00000325680	14/21	82	76	6	58	58	0	strelka-varscan-mutect	YLPM1,stop_gained,p.Gln1943Ter,ENST00000325680,NM_019589.2;YLPM1,stop_gained,p.Gln1237Ter,ENST00000552421,;YLPM1,stop_gained,p.Gln352Ter,ENST00000547879,;YLPM1,upstream_gene_variant,,ENST00000554107,;YLPM1,upstream_gene_variant,,ENST00000546901,;YLPM1,stop_gained,p.Gln1496Ter,ENST00000549293,;	T	ENST00000325680	Transcript	stop_gained	5951/7108	5827/6441	1943/2146	Q/*	Cag/Tag	rs752467058	1		1	YLPM1	HGNC	HGNC:17798	protein_coding	YES	CCDS45135.1	ENSP00000324463	P49750		UPI00006C1433	NM_019589.2			14/21		hmmpanther:PTHR13413,hmmpanther:PTHR13413:SF0,Pfam_domain:PF13671,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	HIGH	1	SNV	5			1										PASS		rs752467058	.												T	4	4	16	74817072	74817072	C	T	1	0	0	0	0	0	1	0	0	18048	595	21	3		3	YLPM1	14	74817072	Nonsense_Mutation	SNP	C	C3L-00412_TP	42966894	74817072	32226646	87	6985											
GANC	0	.	GRCh38	chr15	42310824	42310824	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctacaccttctgatgtcttCaaacagtactcacaccttac	11	12	3	15	0	4	1	2	1	2	0	4	1	4	1	3	0	4	1	3	0	4	5	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.1035C>T	p.=	p.F345F	ENST00000318010	10/24	138	121	17	149	149	0	strelka-mutect	GANC,synonymous_variant,p.=,ENST00000318010,NM_198141.2;GANC,synonymous_variant,p.=,ENST00000566442,NM_001301409.1;GANC,non_coding_transcript_exon_variant,,ENST00000567421,;BNIP3P5,upstream_gene_variant,,ENST00000562290,;	T	ENST00000318010	Transcript	synonymous_variant	1275/7781	1035/2745	345/914	F	ttC/ttT		1		1	GANC	HGNC	HGNC:4139	protein_coding	YES	CCDS10084.1	ENSP00000326227	Q8TET4		UPI00001FE303	NM_198141.2			10/24		Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF60,Superfamily_domains:SSF51445																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	16	42310824	42310824	C	T	1	0	0	0	0	0	0	0	1	6102	825	29	3		3	GANC	15	42310824	Silent	SNP	C	C3L-00412_TP		42310824	59680365	88	6986											
ZNF609	0	.	GRCh38	chr15	64675715	64675715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagcccgagctgagcagttCcagtcagcagccctcggtca	9	6	12	14	2	2	1	2	1	0	0	4	3	3	1	3	1	5	4	3	1	1	1	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.2861C>T	p.Ser954Phe	p.S954F	ENST00000326648	4/9	190	175	15	273	272	1	strelka-varscan-mutect	ZNF609,missense_variant,p.Ser954Phe,ENST00000326648,NM_015042.1;RNU6-549P,downstream_gene_variant,,ENST00000384433,;ZNF609,downstream_gene_variant,,ENST00000559364,;	T	ENST00000326648	Transcript	missense_variant	2989/8746	2861/4236	954/1411	S/F	tCc/tTc		1		1	ZNF609	HGNC	HGNC:29003	protein_coding	YES	CCDS32270.1	ENSP00000316527	O15014		UPI00001D7783	NM_015042.1	deleterious(0.02)		4/9		Low_complexity_(Seg):seg,hmmpanther:PTHR21564:SF3,hmmpanther:PTHR21564																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	16	64675715	64675715	C	T	1	0	0	0	0	1	0	0	0	18610	855	30	3		3	ZNF609	15	64675715	Missense_Mutation	SNP	C	C3L-00412_TP	22364891	64675715	37315474	89	6987											
LINGO1	0	.	GRCh38	chr15	77614893	77614893	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccagagacattgagcacGcgcaggtagttgaggccgcg	9	7	15	10	4	0	3	0	2	0	1	0	4	0	3	2	2	2	4	2	2	1	4	rs770463478		C3L-00412_TP	C3L-00412_NB	G	G																c.1014C>T	p.=	p.R338R	ENST00000355300	2/2	287	255	32	345	345	0	strelka-varscan-mutect	LINGO1,synonymous_variant,p.=,ENST00000355300,NM_032808.6;LINGO1,synonymous_variant,p.=,ENST00000561030,NM_001301199.1,NM_001301194.1,NM_001301191.1,NM_001301197.1,NM_001301200.1,NM_001301187.1,NM_001301189.1,NM_001301186.1,NM_001301195.1,NM_001301198.1,NM_001301192.1;LINGO1,downstream_gene_variant,,ENST00000557798,;LINGO1,downstream_gene_variant,,ENST00000561686,;LINGO1,downstream_gene_variant,,ENST00000566711,;LINGO1,downstream_gene_variant,,ENST00000567726,;LINGO1,downstream_gene_variant,,ENST00000570216,;LINGO1,downstream_gene_variant,,ENST00000562933,;LINGO1,downstream_gene_variant,,ENST00000563316,;LINGO1,downstream_gene_variant,,ENST00000559893,;LINGO1,downstream_gene_variant,,ENST00000564472,;	A	ENST00000355300	Transcript	synonymous_variant	1189/3055	1014/1863	338/620	R	cgC/cgT	rs770463478,COSM5179618	1		-1	LINGO1	HGNC	HGNC:21205	protein_coding	YES	CCDS45313.1	ENSP00000347451	Q96FE5		UPI00000377A0	NM_032808.6			2/2		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF31,SMART_domains:SM00369,Superfamily_domains:SSF52058											0,1						LOW	1	SNV	1		0,1	1										PASS		rs770463478	.												A	2	1	16	77614893	77614893	G	A	1	0	0	0	0	0	0	0	1	8735	1074	38	1		1	LINGO1	15	77614893	Silent	SNP	G	C3L-00412_TP	12939178	77614893	24376296	90	6988											
TICRR	0	.	GRCh38	chr15	89575751	89575751	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgactcgcagggggcGcggagccggccgtcccgcgt	3	8	16	14	7	1	1	0	1	1	0	3	2	2	2	3	4	1	1	3	4	0	2	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.165G>A	p.=	p.A55A	ENST00000268138	1/22	248	233	15	287	287	0	strelka-varscan-mutect	TICRR,synonymous_variant,p.=,ENST00000268138,NM_152259.3;TICRR,synonymous_variant,p.=,ENST00000560985,NM_001308025.1;RP11-429B14.1,intron_variant,,ENST00000559041,;RP11-429B14.3,downstream_gene_variant,,ENST00000560477,;	A	ENST00000268138	Transcript	synonymous_variant	270/6775	165/5733	55/1910	A	gcG/gcA		1		1	TICRR	HGNC	HGNC:28704	protein_coding	YES	CCDS10352.2	ENSP00000268138	Q7Z2Z1		UPI0000D61399	NM_152259.3			1/22		hmmpanther:PTHR21556																	LOW		SNV	5			1										PASS		.	.												A	2	1	16	89575751	89575751	G	A	1	0	0	0	0	0	0	0	1	16328	1074	38	1		1	TICRR	15	89575751	Silent	SNP	G	C3L-00412_TP	11960858	89575751	12415438	91	6989											
TNRC6A	0	.	GRCh38	chr16	24791082	24791082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attctgctgctacaggaatgGtcaagagcaatcagtggggg	11	9	14	7	0	3	1	2	0	1	1	3	2	3	2	0	4	4	3	0	4	4	2	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.2440G>A	p.Val814Ile	p.V814I	ENST00000395799	6/25	64	59	5	64	64	0	strelka-mutect	TNRC6A,missense_variant,p.Val814Ile,ENST00000395799,NM_014494.2;TNRC6A,missense_variant,p.Val814Ile,ENST00000315183,;TNRC6A,upstream_gene_variant,,ENST00000450465,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,upstream_gene_variant,,ENST00000568903,;TNRC6A,upstream_gene_variant,,ENST00000561726,;TNRC6A,upstream_gene_variant,,ENST00000567232,;	A	ENST00000395799	Transcript	missense_variant	2569/8438	2440/5889	814/1962	V/I	Gtc/Atc		1		1	TNRC6A	HGNC	HGNC:11969	protein_coding	YES	CCDS10624.2	ENSP00000379144	Q8NDV7		UPI000059D33E	NM_014494.2	tolerated(0.19)		6/25		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	16	24791082	24791082	G	A	1	0	0	0	0	1	0	0	0	16813	1261	44	3		3	TNRC6A	16	24791082	Missense_Mutation	SNP	G	C3L-00412_TP		24791082	65547263	92	6990											
SETD1A	0	.	GRCh38	chr16	30971437	30971437	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgctgactcagatggcGaaaatgacagcacatcagac	14	8	10	9	1	2	4	2	2	0	2	2	5	2	4	0	1	2	3	0	1	3	1	rs773277646		C3L-00412_TP	C3L-00412_NB	G	G																c.3076G>T	p.Glu1026Ter	p.E1026*	ENST00000262519	13/19	95	84	11	96	96	0	strelka-varscan-mutect	SETD1A,stop_gained,p.Glu1026Ter,ENST00000262519,NM_014712.2;	T	ENST00000262519	Transcript	stop_gained	3762/6903	3076/5124	1026/1707	E/*	Gaa/Taa	rs773277646,COSM4060278	1		1	SETD1A	HGNC	HGNC:29010	protein_coding	YES	CCDS32435.1	ENSP00000262519	O15047		UPI00001C1FA9	NM_014712.2			13/19		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF295											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs773277646	.												T	4	4	16	30971437	30971437	G	T	1	0	0	0	0	0	1	0	0	14407	1059	37	1		1	SETD1A	16	30971437	Nonsense_Mutation	SNP	G	C3L-00412_TP	6180355	30971437	59366908	93	6991											
ITGAX	0	.	GRCh38	chr16	31377255	31377255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtatgctgtctacactGtggttagcaggtcagcaggt	9	12	13	7	0	2	1	1	1	1	0	2	1	2	1	0	3	4	5	0	3	4	3	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.2779G>C	p.Val927Leu	p.V927L	ENST00000562522	23/31	143	135	8	176	176	0	strelka-varscan-mutect	ITGAX,missense_variant,p.Val927Leu,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Val927Leu,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,downstream_gene_variant,,ENST00000562138,;	C	ENST00000562522	Transcript	missense_variant	2812/3990	2779/3510	927/1169	V/L	Gtg/Ctg		1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	deleterious(0.04)		23/31		Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	16	31377255	31377255	G	C	1	0	0	0	0	1	0	0	0	7796	1377	48	4		4	ITGAX	16	31377255	Missense_Mutation	SNP	G	C3L-00412_TP	405818	31377255	58961090	94	6992											
CDH8	0	.	GRCh38	chr16	61652821	61652821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaaccatctgtctcttatGtagtccactgtgtgatacag	11	14	7	9	0	2	1	0	1	2	0	4	1	3	1	2	0	2	1	2	0	5	4	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.2231C>T	p.Thr744Ile	p.T744I	ENST00000577730	12/12	35	31	4	60	60	0	varscan-mutect	CDH8,missense_variant,p.Thr744Ile,ENST00000577730,;CDH8,3_prime_UTR_variant,,ENST00000577390,NM_001796.4;CDH8,intron_variant,,ENST00000299345,;CDH8,downstream_gene_variant,,ENST00000583483,;CDH8,3_prime_UTR_variant,,ENST00000585315,;	A	ENST00000577730	Transcript	missense_variant	2430/8009	2231/2235	744/744	T/I	aCa/aTa		1		-1	CDH8	HGNC	HGNC:1767	protein_coding			ENSP00000462018		J3KRI5	UPI0002466E8E				12/12																			MODERATE		SNV	5			1										PASS		.	.												A	3	1	16	61652821	61652821	G	A	1	0	0	0	0	1	0	0	0	2819	1377	48	3		3	CDH8	16	61652821	Missense_Mutation	SNP	G	C3L-00412_TP	30275566	61652821	28685524	95	6993											
BANP	0	.	GRCh38	chr16	88006104	88006104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttagcgctgtgcctgggcGtcggcagaacaccattgtgg	6	10	15	10	3	0	1	0	0	0	1	1	1	0	1	2	3	3	3	2	3	2	3	rs773807056		C3L-00412_TP	C3L-00412_NB	G	G																c.470G>T	p.Arg157Leu	p.R157L	ENST00000393207	6/14	299	280	19	282	282	0	strelka-varscan-mutect	BANP,missense_variant,p.Arg157Leu,ENST00000393207,NM_001173543.1;BANP,missense_variant,p.Arg165Leu,ENST00000538234,NM_001173539.1,NM_001173542.1;BANP,missense_variant,p.Arg157Leu,ENST00000286122,;BANP,missense_variant,p.Arg126Leu,ENST00000393208,NM_079837.2;BANP,missense_variant,p.Arg126Leu,ENST00000355022,NM_017869.3;BANP,missense_variant,p.Arg132Leu,ENST00000626016,NM_001173540.1;BANP,missense_variant,p.Arg126Leu,ENST00000479780,NM_001173541.1;BANP,missense_variant,p.Arg132Leu,ENST00000439677,;BANP,downstream_gene_variant,,ENST00000436970,;BANP,3_prime_UTR_variant,,ENST00000459966,;BANP,downstream_gene_variant,,ENST00000466197,;BANP,downstream_gene_variant,,ENST00000485772,;	T	ENST00000393207	Transcript	missense_variant	691/2438	470/1560	157/519	R/L	cGt/cTt	rs773807056	1		1	BANP	HGNC	HGNC:13450	protein_coding	YES	CCDS54054.1	ENSP00000376902	Q8N9N5		UPI0000E59DA3	NM_001173543.1	tolerated_low_confidence(0.15)		6/14		hmmpanther:PTHR16243																	MODERATE	1	SNV	2			1										PASS		rs773807056	.												T	3	4	16	88006104	88006104	G	T	1	0	0	0	0	1	0	0	0	1462	1145	40	1		1	BANP	16	88006104	Missense_Mutation	SNP	G	C3L-00412_TP	26353283	88006104	2332241	96	6994											
OR1E1	0	.	GRCh38	chr17	3397571	3397571	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcagcatgggggtcacCacagtgtacatcatagccat	10	9	12	10	0	3	0	3	0	0	0	3	0	3	0	2	3	3	3	2	3	2	3	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.840G>T	p.=	p.V280V	ENST00000322608	1/1	217	196	21	249	248	1	varscan-mutect	OR1E1,synonymous_variant,p.=,ENST00000322608,NM_003553.2;	A	ENST00000322608	Transcript	synonymous_variant	840/1307	840/945	280/314	V	gtG/gtT		1		-1	OR1E1	HGNC	HGNC:8189	protein_coding	YES	CCDS11024.1	ENSP00000313384	P30953		UPI0000041BB6	NM_003553.2			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF367,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												A	2	1	16	3397571	3397571	C	A	1	0	0	0	0	0	0	0	1	11032	581	21	2		2	OR1E1	17	3397571	Silent	SNP	C	C3L-00412_TP		3397571	79859870	97	6995											
PIK3R6	0	.	GRCh38	chr17	8827271	8827271	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccagctctcccagctcCggctgcctggatgctgcagg	5	8	13	15	1	1	0	0	0	1	0	3	1	2	1	4	3	6	6	4	3	1	1	rs755202323		C3L-00412_TP	C3L-00412_NB	C	C																c.1416G>C	p.=	p.P472P	ENST00000619866	13/20	122	112	10	132	132	0	strelka-varscan-mutect	PIK3R6,synonymous_variant,p.=,ENST00000619866,NM_001010855.3,NM_001290211.1;PIK3R6,synonymous_variant,p.=,ENST00000614407,;PIK3R6,3_prime_UTR_variant,,ENST00000611951,;PIK3R6,3_prime_UTR_variant,,ENST00000613555,;	G	ENST00000619866	Transcript	synonymous_variant	1656/3041	1416/2265	472/754	P	ccG/ccC	rs755202323	1		-1	PIK3R6	HGNC	HGNC:27101	protein_coding	YES	CCDS73985.1	ENSP00000480157	Q5UE93		UPI0000043463	NM_001010855.3,NM_001290211.1			13/20		hmmpanther:PTHR15593:SF1,hmmpanther:PTHR15593																	LOW	1	SNV	5			1										PASS		rs755202323	.												G	2	3	16	8827271	8827271	C	G	1	0	0	0	0	0	0	0	1	12018	639	23	4		4	PIK3R6	17	8827271	Silent	SNP	C	C3L-00412_TP	5429700	8827271	74430170	98	6996											
FLII	0	.	GRCh38	chr17	18246013	18246013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtcagggtctgatgcccggCccacccaggcatacacgatg	8	6	12	15	3	2	1	1	1	1	0	2	2	2	1	3	3	2	1	3	3	1	1	rs145565671		C3L-00412_TP	C3L-00412_NB	C	C																c.3317G>T	p.Gly1106Val	p.G1106V	ENST00000327031	26/30	258	243	15	357	357	0	strelka-varscan-mutect	FLII,missense_variant,p.Gly1106Val,ENST00000327031,NM_002018.3;FLII,missense_variant,p.Gly1051Val,ENST00000545457,NM_001256265.1;FLII,missense_variant,p.Gly1095Val,ENST00000579294,NM_001256264.1;FLII,missense_variant,p.Gly17Val,ENST00000577398,;FLII,intron_variant,,ENST00000578558,;FLII,intron_variant,,ENST00000577485,;LLGL1,downstream_gene_variant,,ENST00000316843,NM_004140.3;LLGL1,downstream_gene_variant,,ENST00000621229,;FLII,3_prime_UTR_variant,,ENST00000578101,;FLII,non_coding_transcript_exon_variant,,ENST00000487693,;FLII,non_coding_transcript_exon_variant,,ENST00000493600,;FLII,non_coding_transcript_exon_variant,,ENST00000474265,;FLII,non_coding_transcript_exon_variant,,ENST00000493401,;LLGL1,downstream_gene_variant,,ENST00000479155,;FLII,downstream_gene_variant,,ENST00000496727,;FLII,upstream_gene_variant,,ENST00000465046,;FLII,downstream_gene_variant,,ENST00000459958,;FLII,downstream_gene_variant,,ENST00000577402,;FLII,downstream_gene_variant,,ENST00000580453,;FLII,upstream_gene_variant,,ENST00000581858,;FLII,upstream_gene_variant,,ENST00000487369,;FLII,downstream_gene_variant,,ENST00000580966,;	A	ENST00000327031	Transcript	missense_variant	3543/4338	3317/3810	1106/1269	G/V	gGc/gTc	rs145565671	1		-1	FLII	HGNC	HGNC:3750	protein_coding	YES	CCDS11192.1	ENSP00000324573	Q13045		UPI0000001284	NM_002018.3	deleterious(0)		26/30		hmmpanther:PTHR11977:SF42,hmmpanther:PTHR11977,Gene3D:3.40.20.10,SMART_domains:SM00262,Superfamily_domains:SSF55753																	MODERATE	1	SNV	1			1										PASS		rs145565671	.												A	3	1	16	18246013	18246013	C	A	1	0	0	0	0	1	0	0	0	5787	739	26	2		2	FLII	17	18246013	Missense_Mutation	SNP	C	C3L-00412_TP	9418742	18246013	65011428	99	6997											
FAM187A	0	.	GRCh38	chr17	44904238	44904238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggactacttttacgcctacGatgtggacatccagaacagt	11	10	10	10	2	0	1	0	0	0	1	1	4	1	3	2	2	4	0	2	2	4	4	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.409G>A	p.Asp137Asn	p.D137N	ENST00000331733	4/4	134	118	16	136	136	0	strelka-varscan-mutect	FAM187A,missense_variant,p.Asp137Asn,ENST00000331733,;CCDC103,3_prime_UTR_variant,,ENST00000417826,;EFTUD2,upstream_gene_variant,,ENST00000426333,NM_004247.3;EFTUD2,upstream_gene_variant,,ENST00000591382,NM_001258353.1;EFTUD2,upstream_gene_variant,,ENST00000592576,NM_001258354.1;GFAP,downstream_gene_variant,,ENST00000253408,NM_002055.4;EFTUD2,upstream_gene_variant,,ENST00000402521,NM_001142605.1;FAM187A,downstream_gene_variant,,ENST00000412523,NM_001258399.1,NM_001258396.1,NM_213607.2,NM_001258395.1;CCDC103,downstream_gene_variant,,ENST00000410006,;CCDC103,downstream_gene_variant,,ENST00000357776,NM_001258398.1;CCDC103,downstream_gene_variant,,ENST00000577339,;CCDC103,downstream_gene_variant,,ENST00000410027,NM_001258397.1;GFAP,downstream_gene_variant,,ENST00000588735,;EFTUD2,upstream_gene_variant,,ENST00000593072,;GFAP,downstream_gene_variant,,ENST00000591880,;GFAP,downstream_gene_variant,,ENST00000586125,;AC015936.3,intron_variant,,ENST00000441312,;GFAP,downstream_gene_variant,,ENST00000592706,;GFAP,downstream_gene_variant,,ENST00000588640,;GFAP,downstream_gene_variant,,ENST00000592065,;GFAP,downstream_gene_variant,,ENST00000589701,;EFTUD2,upstream_gene_variant,,ENST00000589825,;GFAP,downstream_gene_variant,,ENST00000585543,;EFTUD2,upstream_gene_variant,,ENST00000592408,;EFTUD2,upstream_gene_variant,,ENST00000590105,;	A	ENST00000331733	Transcript	missense_variant	2245/3397	409/1242	137/413	D/N	Gat/Aat		1		1	FAM187A	HGNC	HGNC:35153	protein_coding			ENSP00000329499	A6NFU0		UPI000013E667		deleterious(0)		4/4		hmmpanther:PTHR32178,hmmpanther:PTHR32178:SF7																	MODERATE		SNV	1			1										PASS		.	.												A	3	1	16	44904238	44904238	G	A	1	0	0	0	0	1	0	0	0	5363	1058	37	1		1	FAM187A	17	44904238	Missense_Mutation	SNP	G	C3L-00412_TP	26658225	44904238	38353203	100	6998											
MAP3K3	0	.	GRCh38	chr17	63688556	63688556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaaatcacgaatgtcccGtgcccagagcttccctgaca	10	7	9	15	3	1	2	1	1	0	1	3	4	3	3	4	1	2	1	4	1	2	1	rs773083246		C3L-00412_TP	C3L-00412_NB	G	G																c.833G>T	p.Arg278Leu	p.R278L	ENST00000361357	10/17	292	269	23	337	337	0	strelka-varscan-mutect	MAP3K3,missense_variant,p.Arg278Leu,ENST00000361357,NM_203351.1;MAP3K3,missense_variant,p.Arg247Leu,ENST00000361733,NM_002401.3;MAP3K3,missense_variant,p.Arg278Leu,ENST00000579585,;MAP3K3,missense_variant,p.Arg274Leu,ENST00000584573,;MAP3K3,missense_variant,p.Arg243Leu,ENST00000577395,;MAP3K3,non_coding_transcript_exon_variant,,ENST00000577784,;MAP3K3,3_prime_UTR_variant,,ENST00000577597,;MAP3K3,3_prime_UTR_variant,,ENST00000585302,;MAP3K3,non_coding_transcript_exon_variant,,ENST00000578622,;MAP3K3,upstream_gene_variant,,ENST00000577839,;MAP3K3,upstream_gene_variant,,ENST00000581732,;	T	ENST00000361357	Transcript	missense_variant	1151/4818	833/1974	278/657	R/L	cGt/cTt	rs773083246	1		1	MAP3K3	HGNC	HGNC:6855	protein_coding	YES	CCDS32701.1	ENSP00000354927	Q99759		UPI0000074003	NM_203351.1	tolerated(0.06)		10/17		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF350																	MODERATE	1	SNV	1			1										PASS		rs773083246	.												T	3	4	16	63688556	63688556	G	T	1	0	0	0	0	1	0	0	0	9174	1145	40	1		1	MAP3K3	17	63688556	Missense_Mutation	SNP	G	C3L-00412_TP	18784318	63688556	19568885	101	6999											
ANKRD12	0	.	GRCh38	chr18	9254625	9254625	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaaacatcaaattctgAtatgcaaaccaaaaaggaat	19	8	5	9	0	2	2	1	2	1	0	2	3	2	3	2	1	3	1	2	1	7	2			C3L-00412_TP	C3L-00412_NB	A	A																c.1358A>G	p.Asp453Gly	p.D453G	ENST00000262126	9/13	90	84	6	73	73	0	strelka-varscan-mutect	ANKRD12,missense_variant,p.Asp453Gly,ENST00000262126,NM_015208.4;ANKRD12,missense_variant,p.Asp430Gly,ENST00000400020,NM_001083625.2,NM_001204056.1;ANKRD12,downstream_gene_variant,,ENST00000546007,;RP11-888D10.4,upstream_gene_variant,,ENST00000609701,;Y_RNA,downstream_gene_variant,,ENST00000384364,;Y_RNA,upstream_gene_variant,,ENST00000364013,;RP11-21J18.1,downstream_gene_variant,,ENST00000578850,;ANKRD12,3_prime_UTR_variant,,ENST00000359158,;	G	ENST00000262126	Transcript	missense_variant	1598/11288	1358/6189	453/2062	D/G	gAt/gGt	COSM324712	1		1	ANKRD12	HGNC	HGNC:29135	protein_coding	YES	CCDS11843.1	ENSP00000262126	Q6UB98		UPI0000073327	NM_015208.4	deleterious_low_confidence(0)		9/13		hmmpanther:PTHR24149,hmmpanther:PTHR24149:SF7											1						MODERATE	1	SNV	1		1	1										PASS		rs1181808326	.												G	3	3	16	9254625	9254625	A	G	1	0	0	0	0	1	0	0	0	741	333	12	5		5	ANKRD12	18	9254625	Missense_Mutation	SNP	A	C3L-00412_TP		9254625	71118660	102	7000											
ZNF521	0	.	GRCh38	chr18	25226032	25226032	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatattctccagtgggaCgtgcaggtgcacctcctact	9	11	10	11	1	1	1	0	0	1	1	3	2	2	2	3	2	3	2	3	2	3	4	rs779955981		C3L-00412_TP	C3L-00412_NB	C	C																c.1886G>T	p.Arg629Leu	p.R629L	ENST00000361524	4/8	201	186	15	195	194	1	strelka-varscan-mutect	ZNF521,missense_variant,p.Arg629Leu,ENST00000361524,NM_015461.2;ZNF521,missense_variant,p.Arg409Leu,ENST00000584787,NM_001308225.1;ZNF521,missense_variant,p.Arg629Leu,ENST00000538137,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,missense_variant,p.Arg629Leu,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	A	ENST00000361524	Transcript	missense_variant	2035/4871	1886/3936	629/1311	R/L	cGt/cTt	rs779955981,COSM4580350	1		-1	ZNF521	HGNC	HGNC:24605	protein_coding	YES	CCDS32806.1	ENSP00000354794	Q96K83		UPI000006F982	NM_015461.2	tolerated(0.76)		4/8		hmmpanther:PTHR24402:SF222,hmmpanther:PTHR24402											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs779955981	.												A	3	1	16	25226032	25226032	C	A	1	0	0	0	0	1	0	0	0	18537	536	19	1		1	ZNF521	18	25226032	Missense_Mutation	SNP	C	C3L-00412_TP	15971407	25226032	55147253	103	7001											
MBD1	0	.	GRCh38	chr18	50269798	50269798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttacatccatcttcccttCccgagtgcctgccctgcaga	6	12	6	17	1	1	1	0	0	1	1	4	2	4	1	5	0	4	1	5	0	1	4	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.1799G>T	p.Gly600Val	p.G600V	ENST00000590208	16/16	263	246	17	306	304	2	strelka-varscan-mutect	MBD1,stop_gained,p.Glu496Ter,ENST00000587605,NM_001204143.1;MBD1,missense_variant,p.Gly531Val,ENST00000269471,NM_015845.3;MBD1,missense_variant,p.Gly600Val,ENST00000590208,NM_001204136.1;MBD1,missense_variant,p.Gly531Val,ENST00000588937,;MBD1,3_prime_UTR_variant,,ENST00000591416,;MBD1,3_prime_UTR_variant,,ENST00000269468,NM_015846.3;MBD1,3_prime_UTR_variant,,ENST00000347968,NM_015844.2;MBD1,3_prime_UTR_variant,,ENST00000339998,NM_001204142.1;MBD1,3_prime_UTR_variant,,ENST00000353909,NM_015847.3;MBD1,3_prime_UTR_variant,,ENST00000585595,;MBD1,3_prime_UTR_variant,,ENST00000589541,;MBD1,intron_variant,,ENST00000585672,NM_001204141.1;MBD1,intron_variant,,ENST00000382948,NM_001204139.1;MBD1,intron_variant,,ENST00000592060,;MBD1,downstream_gene_variant,,ENST00000457839,NM_001204137.1,NM_001204138.1;MBD1,downstream_gene_variant,,ENST00000398495,NM_001204140.1;CFAP53,upstream_gene_variant,,ENST00000398545,NM_145020.3;MBD1,downstream_gene_variant,,ENST00000398493,;MBD1,downstream_gene_variant,,ENST00000591535,NM_001204151.1;MBD1,downstream_gene_variant,,ENST00000398488,NM_002384.2;MBD1,downstream_gene_variant,,ENST00000589733,;MBD1,downstream_gene_variant,,ENST00000586884,;	A	ENST00000590208	Transcript	missense_variant	2146/2913	1799/1968	600/655	G/V	gGa/gTa		1		-1	MBD1	HGNC	HGNC:6916	protein_coding	YES	CCDS59320.1	ENSP00000468785	Q9UIS9		UPI0001F995B6	NM_001204136.1	tolerated_low_confidence(0.19)		16/16		hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	16	50269798	50269798	C	A	1	0	0	0	0	1	0	0	0	9271	864	30	2		2	MBD1	18	50269798	Missense_Mutation	SNP	C	C3L-00412_TP	25043766	50269798	30103487	104	7002											
ALPK2	0	.	GRCh38	chr18	58529209	58529209	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagtgttcagggaacatctCagcttggatctttttcagta	10	14	10	7	0	4	1	3	0	2	1	5	3	4	3	0	2	2	3	0	2	2	5	rs562011454		C3L-00412_TP	C3L-00412_NB	C	C																c.5383G>C	p.Glu1795Gln	p.E1795Q	ENST00000361673	6/13	152	143	9	207	207	0	strelka-varscan-mutect	ALPK2,missense_variant,p.Glu1795Gln,ENST00000361673,NM_052947.3;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;	G	ENST00000361673	Transcript	missense_variant	5597/7303	5383/6513	1795/2170	E/Q	Gag/Cag	rs562011454	1		-1	ALPK2	HGNC	HGNC:20565	protein_coding	YES	CCDS11966.2	ENSP00000354991	Q86TB3		UPI000022A768	NM_052947.3	deleterious(0)		6/13		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6,SMART_domains:SM00409																	MODERATE	1	SNV	1			1										PASS		rs562011454	.												G	3	3	16	58529209	58529209	C	G	1	0	0	0	0	1	0	0	0	645	835	29	4		4	ALPK2	18	58529209	Missense_Mutation	SNP	C	C3L-00412_TP	8259411	58529209	21844076	105	7003											
STK11	0	.	GRCh38	chr19	1220492	1220492	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctcaaaatctccgaccTgggcgtggccgaggtaggca	9	6	12	14	3	2	0	1	0	1	0	3	2	2	0	4	4	0	2	4	4	3	1	novel		C3L-00412_TP	C3L-00412_NB	T	T																c.584T>G	p.Leu195Arg	p.L195R	ENST00000326873	4/10	69	61	8	78	77	1	strelka-mutect	STK11,missense_variant,p.Leu195Arg,ENST00000586243,;STK11,missense_variant,p.Leu195Arg,ENST00000326873,NM_000455.4;STK11,missense_variant,p.Leu137Arg,ENST00000585851,;STK11,upstream_gene_variant,,ENST00000585465,;STK11,downstream_gene_variant,,ENST00000585748,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000591133,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;STK11,downstream_gene_variant,,ENST00000593219,;	G	ENST00000326873	Transcript	missense_variant	1034/2611	584/1302	195/433	L/R	cTg/cGg		1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4	deleterious(0)		4/10		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	16	1220492	1220492	T	G	1	0	0	0	0	1	0	0	0	15664	1580	55	5		5	STK11	19	1220492	Missense_Mutation	SNP	T	C3L-00412_TP		1220492	57397124	106	7004											
CLEC4M	0	.	GRCh38	chr19	7766017	7766017	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgggtgagttgccagagaaAtccaagctgcaggagatcta	12	8	14	7	0	1	3	0	1	1	2	2	5	2	3	2	2	3	3	2	2	3	2	novel		C3L-00412_TP	C3L-00412_NB	A	A																c.594A>G	p.=	p.K198K	ENST00000327325	4/7	101	92	9	85	84	1	varscan-mutect	CLEC4M,synonymous_variant,p.=,ENST00000327325,NM_001144909.1,NM_001144905.1,NM_001144910.1,NM_014257.4;CLEC4M,synonymous_variant,p.=,ENST00000394122,;CLEC4M,synonymous_variant,p.=,ENST00000248228,;CLEC4M,synonymous_variant,p.=,ENST00000334806,NM_001144904.1;CLEC4M,synonymous_variant,p.=,ENST00000359059,NM_001144907.1;CLEC4M,synonymous_variant,p.=,ENST00000596363,NM_001144911.1;CLEC4M,synonymous_variant,p.=,ENST00000596707,;CLEC4M,synonymous_variant,p.=,ENST00000595751,;CLEC4M,intron_variant,,ENST00000597522,NM_001144908.1;CLEC4M,intron_variant,,ENST00000595496,NM_001144906.1;CLEC4M,non_coding_transcript_exon_variant,,ENST00000601089,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000598879,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000599333,;CLEC4M,upstream_gene_variant,,ENST00000602143,;	G	ENST00000327325	Transcript	synonymous_variant	712/1935	594/1200	198/399	K	aaA/aaG		1		1	CLEC4M	HGNC	HGNC:13523	protein_coding	YES	CCDS12187.1	ENSP00000316228	Q9H2X3		UPI0000073C48	NM_001144909.1,NM_001144905.1,NM_001144910.1,NM_014257.4			4/7		hmmpanther:PTHR22802:SF244,hmmpanther:PTHR22802																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	16	7766017	7766017	A	G	1	0	0	0	0	0	0	0	1	3286	98	4	5		5	CLEC4M	19	7766017	Silent	SNP	A	C3L-00412_TP	6545525	7766017	50851599	107	7005											
SMARCA4	0	.	GRCh38	chr19	10991154	10991154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccctcctacagctgcGccaggaggtggtggtgtgca	5	10	13	13	1	1	0	0	0	1	0	3	1	3	1	3	4	4	2	3	4	1	2	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.1250G>T	p.Arg417Leu	p.R417L	ENST00000429416	9/36	246	223	23	276	276	0	strelka-varscan-mutect	SMARCA4,missense_variant,p.Arg417Leu,ENST00000429416,NM_001128844.1;SMARCA4,missense_variant,p.Arg417Leu,ENST00000413806,;SMARCA4,missense_variant,p.Arg417Leu,ENST00000450717,NM_001128849.1;SMARCA4,missense_variant,p.Arg417Leu,ENST00000344626,NM_003072.3;SMARCA4,missense_variant,p.Arg417Leu,ENST00000590574,NM_001128847.1;SMARCA4,missense_variant,p.Arg417Leu,ENST00000589677,NM_001128846.1;SMARCA4,missense_variant,p.Arg417Leu,ENST00000541122,NM_001128845.1;SMARCA4,missense_variant,p.Arg417Leu,ENST00000444061,NM_001128848.1;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;	T	ENST00000429416	Transcript	missense_variant	1531/5691	1250/4944	417/1647	R/L	cGc/cTc		1		1	SMARCA4	HGNC	HGNC:11100	protein_coding	YES	CCDS12253.1	ENSP00000395654	P51532	A7E2E1	UPI000006F973	NM_001128844.1	deleterious(0.02)		9/36		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	16	10991154	10991154	G	T	1	0	0	0	0	1	0	0	0	15063	1101	38	1		1	SMARCA4	19	10991154	Missense_Mutation	SNP	G	C3L-00412_TP	3225137	10991154	47626462	108	7006											
ZNF626	0	.	GRCh38	chr19	20646405	20646405	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atctctaaattgcaatggtcCctgaaaaacacacacacaca	17	8	4	12	0	1	1	0	1	1	0	3	1	2	1	1	1	2	1	1	1	5	2	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.4G>C	p.Gly2Arg	p.G2R	ENST00000601440	2/4	197	181	16	192	191	1	varscan-mutect	ZNF626,missense_variant,p.Gly2Arg,ENST00000601440,NM_001076675.2;ZNF626,missense_variant,p.Gly2Arg,ENST00000612591,;ZNF626,missense_variant,p.Gly2Arg,ENST00000291750,NM_145297.3;ZNF626,intron_variant,,ENST00000595405,;CTC-513N18.7,splice_region_variant,,ENST00000595094,;	G	ENST00000601440	Transcript	missense_variant,splice_region_variant	151/5963	4/1587	2/528	G/R	Gga/Cga		1		-1	ZNF626	HGNC	HGNC:30461	protein_coding	YES	CCDS42535.1	ENSP00000469958	Q68DY1		UPI000035E843	NM_001076675.2	deleterious(0.03)		2/4		hmmpanther:PTHR24384:SF129,hmmpanther:PTHR24384,Superfamily_domains:0044637																	MODERATE	1	SNV	4			1										PASS		.	.												G	3	3	16	20646405	20646405	C	G	1	0	0	0	0	1	0	0	0	18625	637	22	4		4	ZNF626	19	20646405	Missense_Mutation	SNP	C	C3L-00412_TP	9655251	20646405	37971211	109	7007											
ZNF536	0	.	GRCh38	chr19	30444811	30444811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcctgtgcccatgggcGgcatgtcccaggaggcccac	6	6	15	14	1	0	0	0	0	0	0	1	1	1	1	4	5	2	1	4	5	0	0			C3L-00412_TP	C3L-00412_NB	G	G																c.1249G>T	p.Gly417Cys	p.G417C	ENST00000355537	2/5	165	147	18	194	194	0	strelka-varscan-mutect	ZNF536,missense_variant,p.Gly417Cys,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.Gly417Cys,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;	T	ENST00000355537	Transcript	missense_variant	1396/4945	1249/3903	417/1300	G/C	Ggc/Tgc	COSM5265916,COSM994430	1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	deleterious(0.01)		2/5		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1433897311	.												T	3	4	16	30444811	30444811	G	T	1	0	0	0	0	1	0	0	0	18547	1116	39	1		1	ZNF536	19	30444811	Missense_Mutation	SNP	G	C3L-00412_TP	9798406	30444811	28172805	110	7008											
ZNF781	0	.	GRCh38	chr19	37669934	37669934	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgaatcaatgttgaacaaCagataaacactttcccacat	16	11	5	9	0	1	3	1	2	0	1	2	3	2	3	1	0	3	2	1	0	6	4	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.215G>C	p.Cys72Ser	p.C72S	ENST00000358582	4/4	100	95	5	121	121	0	strelka-varscan-mutect	ZNF781,missense_variant,p.Cys72Ser,ENST00000358582,NM_152605.3;ZNF781,missense_variant,p.Cys72Ser,ENST00000590008,;ZFP30,intron_variant,,ENST00000587199,;ZFP30,intron_variant,,ENST00000586732,;ZFP30,intron_variant,,ENST00000589676,;ZNF781,downstream_gene_variant,,ENST00000593040,;	G	ENST00000358582	Transcript	missense_variant	964/3147	215/984	72/327	C/S	tGt/tCt		1		-1	ZNF781	HGNC	HGNC:26745	protein_coding	YES	CCDS12507.1	ENSP00000351391	Q8N8C0	A0A024R0G3	UPI0000351D6C	NM_152605.3	tolerated(0.43)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	16	37669934	37669934	C	G	1	0	0	0	0	1	0	0	0	18737	478	17	4		4	ZNF781	19	37669934	Missense_Mutation	SNP	C	C3L-00412_TP	7225123	37669934	20947682	111	7009											
CEACAM16	0	.	GRCh38	chr19	44708075	44708075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggaggtgggcttccccaaCtgctcgctgttggtgcagaa	6	9	15	11	2	0	1	0	0	0	1	2	2	1	2	2	4	3	5	2	4	2	2	rs775387666		C3L-00412_TP	C3L-00412_NB	C	C																c.1155C>A	p.Asn385Lys	p.N385K	ENST00000587331	6/7	141	132	9	130	130	0	strelka-varscan-mutect	CEACAM16,missense_variant,p.Asn385Lys,ENST00000587331,NM_001039213.3;CEACAM16,missense_variant,p.Asn385Lys,ENST00000405314,;CTB-171A8.1,intron_variant,,ENST00000590796,;	A	ENST00000587331	Transcript	missense_variant	1370/1701	1155/1278	385/425	N/K	aaC/aaA	rs775387666	1		1	CEACAM16	HGNC	HGNC:31948	protein_coding	YES	CCDS54278.1	ENSP00000466561	Q2WEN9		UPI00001D8176	NM_001039213.3	deleterious(0)		6/7		Gene3D:2.60.40.10,hmmpanther:PTHR10489,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs775387666	.												A	3	1	16	44708075	44708075	C	A	1	0	0	0	0	1	0	0	0	2894	564	20	2		2	CEACAM16	19	44708075	Missense_Mutation	SNP	C	C3L-00412_TP	7038141	44708075	13909541	112	7010											
TRPM4	0	.	GRCh38	chr19	49171595	49171595	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagcgaatagagaacgccacCcaggctcagctcccatgtct	11	7	9	14	2	2	1	1	0	1	1	3	3	3	1	3	1	3	2	3	1	4	2	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.876C>G	p.=	p.T292T	ENST00000252826	8/25	162	146	16	232	232	0	strelka-varscan-mutect	TRPM4,synonymous_variant,p.=,ENST00000252826,NM_017636.3;TRPM4,synonymous_variant,p.=,ENST00000427978,NM_001195227.1;TRPM4,downstream_gene_variant,,ENST00000598691,;TRPM4,non_coding_transcript_exon_variant,,ENST00000601347,;TRPM4,3_prime_UTR_variant,,ENST00000595519,NM_001321283.1;TRPM4,3_prime_UTR_variant,,ENST00000598502,NM_001321282.1;TRPM4,3_prime_UTR_variant,,ENST00000598697,NM_001321285.1;TRPM4,non_coding_transcript_exon_variant,,ENST00000596338,;TRPM4,downstream_gene_variant,,ENST00000594568,;	G	ENST00000252826	Transcript	synonymous_variant	1002/4109	876/3645	292/1214	T	acC/acG		1		1	TRPM4	HGNC	HGNC:17993	protein_coding	YES	CCDS33073.1	ENSP00000252826	Q8TD43		UPI0000070598	NM_017636.3			8/25		hmmpanther:PTHR13800:SF6,hmmpanther:PTHR13800,Superfamily_domains:0051779																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	16	49171595	49171595	C	G	1	0	0	0	0	0	0	0	1	17094	610	22	4		4	TRPM4	19	49171595	Silent	SNP	C	C3L-00412_TP	4463520	49171595	9446021	113	7011											
RFPL4AL1	0	.	GRCh38	chr19	55772768	55772768	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcttcacttccggccgccaTtactgggaggtggacgtggg	5	9	15	12	4	1	0	1	0	0	0	2	2	2	2	3	5	1	1	3	5	1	3	novel		C3L-00412_TP	C3L-00412_NB	T	T																c.453T>A	p.His151Gln	p.H151Q	ENST00000341750	3/3	400	379	21	458	458	0	varscan-mutect	RFPL4AL1,missense_variant,p.His151Gln,ENST00000341750,NM_001277397.1;RFPL4AP1,upstream_gene_variant,,ENST00000530883,;	A	ENST00000341750	Transcript	missense_variant	497/908	453/864	151/287	H/Q	caT/caA		1		1	RFPL4AL1	HGNC	HGNC:45147	protein_coding	YES	CCDS59425.1	ENSP00000345151	F8VTS6		UPI000015FD78	NM_001277397.1	deleterious(0.02)		3/3		Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF228,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	16	55772768	55772768	T	A	1	0	0	0	0	1	0	0	0	13429	1490	52	4		4	RFPL4AL1	19	55772768	Missense_Mutation	SNP	T	C3L-00412_TP	6601173	55772768	2844848	114	7012											
SIRPG	0	.	GRCh38	chr20	1636472	1636472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcaggtgtggtcctcgccGcagggcccaataccacgggg	6	6	15	14	3	1	0	1	0	0	0	3	0	2	0	4	5	1	2	4	5	2	1			C3L-00412_TP	C3L-00412_NB	G	G																c.464C>A	p.Ala155Glu	p.A155E	ENST00000303415	3/6	159	146	13	214	214	0	strelka-varscan-mutect	SIRPG,missense_variant,p.Ala122Glu,ENST00000381580,;SIRPG,missense_variant,p.Ala155Glu,ENST00000303415,NM_018556.3;SIRPG,missense_variant,p.Ala155Glu,ENST00000381583,NM_001039508.1;SIRPG,missense_variant,p.Ala155Glu,ENST00000216927,;SIRPG,intron_variant,,ENST00000344103,NM_080816.2;SIRPG-AS1,intron_variant,,ENST00000456177,;SIRPG-AS1,intron_variant,,ENST00000437384,;	T	ENST00000303415	Transcript	missense_variant	529/1716	464/1164	155/387	A/E	gCg/gAg	COSM4653257	1		-1	SIRPG	HGNC	HGNC:15757	protein_coding	YES	CCDS13020.2	ENSP00000305529	Q9P1W8		UPI00001AE5FD	NM_018556.3	tolerated(0.22)		3/6		PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF6,Pfam_domain:PF07654,Gene3D:2.60.40.10,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		rs1290175888	.												T	3	4	16	1636472	1636472	G	T	1	0	0	0	0	1	0	0	0	14599	1087	38	1		1	SIRPG	20	1636472	Missense_Mutation	SNP	G	C3L-00412_TP		1636472	62807695	115	7013											
TGM6	0	.	GRCh38	chr20	2397960	2397960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctgcctctccatcctggatCgaagccccggtcaccaaaac	9	8	7	17	2	3	0	1	0	2	0	6	2	4	1	6	2	3	0	6	2	3	0	rs575622127		C3L-00412_TP	C3L-00412_NB	C	C																c.586C>G	p.Arg196Gly	p.R196G	ENST00000202625	5/13	472	446	26	452	452	0	strelka-varscan-mutect	TGM6,missense_variant,p.Arg196Gly,ENST00000202625,NM_198994.2;TGM6,missense_variant,p.Arg196Gly,ENST00000381423,NM_001254734.1;TGM6,non_coding_transcript_exon_variant,,ENST00000477505,;	G	ENST00000202625	Transcript	missense_variant	647/2292	586/2121	196/706	R/G	Cga/Gga	rs575622127	1		1	TGM6	HGNC	HGNC:16255	protein_coding	YES	CCDS13025.1	ENSP00000202625	O95932		UPI0000367011	NM_198994.2	deleterious(0)		5/13		hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF50,PIRSF_domain:PIRSF000459,Gene3D:1ex0A02,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		rs575622127	.												G	3	3	16	2397960	2397960	C	G	1	0	0	0	0	1	0	0	0	16267	876	31	4		4	TGM6	20	2397960	Missense_Mutation	SNP	C	C3L-00412_TP	761488	2397960	62046207	116	7014											
GPCPD1	0	.	GRCh38	chr20	5578612	5578612	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctagtgtcagcttcaccCtacgtaataaacaaaataat	15	12	4	10	1	3	0	2	0	1	0	3	0	3	0	1	0	3	2	1	0	8	7	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.474-1G>T		p.X158_splice	ENST00000379019		138	126	12	190	190	0	strelka-varscan-mutect	GPCPD1,splice_acceptor_variant,,ENST00000379019,NM_019593.3;GPCPD1,upstream_gene_variant,,ENST00000418646,;GPCPD1,splice_acceptor_variant,,ENST00000481038,;GPCPD1,splice_acceptor_variant,,ENST00000481690,;GPCPD1,upstream_gene_variant,,ENST00000633552,;GPCPD1,upstream_gene_variant,,ENST00000473797,;	A	ENST00000379019	Transcript	splice_acceptor_variant	-/5489	474/2019	158/672				1		-1	GPCPD1	HGNC	HGNC:26957	protein_coding	YES	CCDS13090.1	ENSP00000368305	Q9NPB8		UPI0000062241	NM_019593.3				7/19																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	16	5578612	5578612	C	A	1	0	0	0	0	0	0	1	0	6505	695	24	2		2	GPCPD1	20	5578612	Splice_Site	SNP	C	C3L-00412_TP	3180652	5578612	58865555	117	7015											
FERMT1	0	.	GRCh38	chr20	6107614	6107614	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggatgccttgttccataaggGagcgtgaggagtctagccaa	10	9	14	8	1	1	1	0	1	1	0	2	4	2	4	3	3	3	1	3	3	3	4	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.767C>G	p.Ser256Cys	p.S256C	ENST00000217289	6/15	252	233	19	245	245	0	strelka-varscan-mutect	FERMT1,missense_variant,p.Ser256Cys,ENST00000217289,NM_017671.4;FERMT1,5_prime_UTR_variant,,ENST00000536936,;FERMT1,downstream_gene_variant,,ENST00000378844,;	C	ENST00000217289	Transcript	missense_variant	1556/5151	767/2034	256/677	S/C	tCc/tGc		1		-1	FERMT1	HGNC	HGNC:15889	protein_coding	YES	CCDS13098.1	ENSP00000217289	Q9BQL6		UPI00001285DD	NM_017671.4	tolerated(0.14)		6/15		hmmpanther:PTHR16160:SF12,hmmpanther:PTHR16160,SMART_domains:SM00295																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	16	6107614	6107614	G	C	1	0	0	0	0	1	0	0	0	5680	1174	41	4		4	FERMT1	20	6107614	Missense_Mutation	SNP	G	C3L-00412_TP	529002	6107614	58336553	118	7016											
SLC32A1	0	.	GRCh38	chr20	38727763	38727763	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgtacaacagcttcccGgggctgcccgtgtcgcagaa	8	8	11	14	3	1	1	1	0	0	1	3	1	2	1	2	2	4	4	2	2	3	2			C3L-00412_TP	C3L-00412_NB	G	G																c.702G>T	p.=	p.P234P	ENST00000217420	2/2	329	305	24	382	380	2	strelka-varscan-mutect	SLC32A1,synonymous_variant,p.=,ENST00000217420,NM_080552.2;	T	ENST00000217420	Transcript	synonymous_variant	965/2574	702/1578	234/525	P	ccG/ccT	COSM3546235	1		1	SLC32A1	HGNC	HGNC:11018	protein_coding	YES	CCDS13307.1	ENSP00000217420	Q9H598		UPI0000043423	NM_080552.2			2/2		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF221											1						LOW	1	SNV	1		1	1										PASS		rs1423783883	.												T	2	4	16	38727763	38727763	G	T	1	0	0	0	0	0	0	0	1	14835	1103	39	1		1	SLC32A1	20	38727763	Silent	SNP	G	C3L-00412_TP	32620149	38727763	25716404	119	7017											
GNAS	0	.	GRCh38	chr20	58854632	58854632	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccagccgatcccgactccgGggcggcccctgacgccccag	5	3	12	21	5	0	1	0	1	0	0	2	3	2	1	8	3	1	0	8	3	0	0	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.1367G>C	p.Gly456Ala	p.G456A	ENST00000371100	1/13	287	256	31	184	184	0	strelka-varscan-mutect	GNAS,missense_variant,p.Gly456Ala,ENST00000371100,NM_080425.2;GNAS,missense_variant,p.Gly456Ala,ENST00000371099,;GNAS,missense_variant,p.Gly456Ala,ENST00000371102,;GNAS,missense_variant,p.Gly393Arg,ENST00000306120,NM_001077490.1;GNAS,intron_variant,,ENST00000313949,;GNAS,intron_variant,,ENST00000371075,NM_016592.2;GNAS,intron_variant,,ENST00000371098,;GNAS,intron_variant,,ENST00000419558,;GNAS,intron_variant,,ENST00000453292,;GNAS,upstream_gene_variant,,ENST00000423897,;GNAS,upstream_gene_variant,,ENST00000450130,;GNAS,upstream_gene_variant,,ENST00000349036,;GNAS-AS1,upstream_gene_variant,,ENST00000424094,;GNAS-AS1,upstream_gene_variant,,ENST00000598163,;GNAS-AS1_5,downstream_gene_variant,,ENST00000614281,;GNAS-AS1_4,downstream_gene_variant,,ENST00000616546,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,non_coding_transcript_exon_variant,,ENST00000481768,;GNAS,intron_variant,,ENST00000491348,;GNAS,intron_variant,,ENST00000472183,;GNAS,intron_variant,,ENST00000493744,;GNAS,intron_variant,,ENST00000482112,;GNAS,intron_variant,,ENST00000490374,;GNAS,intron_variant,,ENST00000467227,;GNAS,intron_variant,,ENST00000462499,;	C	ENST00000371100	Transcript	missense_variant	1919/4029	1367/3114	456/1037	G/A	gGg/gCg		1		1	GNAS	HGNC	HGNC:4392	protein_coding	YES	CCDS46622.1	ENSP00000360141	Q5JWF2		UPI0000E444AE	NM_080425.2	tolerated_low_confidence(1)		1/13		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	16	58854632	58854632	G	C	1	0	0	0	0	1	0	0	0	6390	1232	43	4		4	GNAS	20	58854632	Missense_Mutation	SNP	G	C3L-00412_TP	20126869	58854632	5589535	120	7018											
MRGBP	0	.	GRCh38	chr20	62799617	62799617	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaacccttccagtcccAgtgctgccaagcggcgccgc	8	5	10	18	3	0	0	0	0	0	0	2	0	2	0	5	1	5	2	5	1	2	1			C3L-00412_TP	C3L-00412_NB	A	A																c.589A>T	p.Ser197Cys	p.S197C	ENST00000370487	5/5	71	60	11	91	91	0	strelka-varscan-mutect	MRGBP,missense_variant,p.Ser197Cys,ENST00000370487,NM_018270.4;OGFR-AS1,downstream_gene_variant,,ENST00000431361,;	T	ENST00000370487	Transcript	missense_variant	660/2781	589/615	197/204	S/C	Agt/Tgt	COSM5057486	1		1	MRGBP	HGNC	HGNC:15866	protein_coding	YES	CCDS13503.1	ENSP00000359518	Q9NV56		UPI0000049FC0	NM_018270.4	deleterious(0.04)		5/5		hmmpanther:PTHR13581,hmmpanther:PTHR13581:SF5,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	16	62799617	62799617	A	T	1	0	0	0	0	1	0	0	0	9728	188	7	4		4	MRGBP	20	62799617	Missense_Mutation	SNP	A	C3L-00412_TP	3944985	62799617	1644550	121	7019											
PRPF6	0	.	GRCh38	chr20	64028481	64028481	+	Frame_Shift_Del	DEL	G	G	-																															ggggcctgtctcctcaggttGgagtccgtgcggctggagta																								novel		C3L-00412_TP	C3L-00412_NB	G	G																c.2344delG	p.Glu782SerfsTer11	p.E782Sfs*11	ENST00000266079	18/21	150	138	12	193	193	0	sindel-pindel	PRPF6,frameshift_variant,p.Glu782SerfsTer11,ENST00000266079,NM_012469.3;	-	ENST00000266079	Transcript	frameshift_variant	2454/3044	2343/2826	781/941	L/X	ttG/tt		1		1	PRPF6	HGNC	HGNC:15860	protein_coding	YES	CCDS13550.1	ENSP00000266079	O94906		UPI0000132356	NM_012469.3			18/21		Gene3D:1.25.40.10,PROSITE_profiles:PS50293,hmmpanther:PTHR11246,SMART_domains:SM00386,Superfamily_domains:SSF48452																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	16	64028481	64028481	G	-	1	0	1	0	1	0	0	0	0	12710	1362	47	0		0	PRPF6	20	64028481	Frame_Shift_Del	DEL	G	C3L-00412_TP	1228864	64028481	415686	122	7020											
RGS19	0	.	GRCh38	chr20	64074044	64074044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacacgggagtccaggctcaCctgcaggacaagacactgag	12	4	12	13	1	1	2	1	1	0	1	2	4	2	4	2	3	1	2	2	3	1	0	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.463G>T	p.Val155Leu	p.V155L	ENST00000395042	6/6	57	51	6	94	94	0	strelka-varscan-mutect	RGS19,missense_variant,p.Val155Leu,ENST00000395042,NM_005873.2;RGS19,missense_variant,p.Val155Leu,ENST00000332298,NM_001039467.1;TCEA2,downstream_gene_variant,,ENST00000395053,;TCEA2,downstream_gene_variant,,ENST00000361317,NM_198723.1;TCEA2,downstream_gene_variant,,ENST00000343484,NM_003195.4;TCEA2,downstream_gene_variant,,ENST00000440819,;TCEA2,downstream_gene_variant,,ENST00000339217,;TCEA2,downstream_gene_variant,,ENST00000458442,;MIR6813,downstream_gene_variant,,ENST00000621638,;TCEA2,downstream_gene_variant,,ENST00000465111,;TCEA2,downstream_gene_variant,,ENST00000487164,;TCEA2,downstream_gene_variant,,ENST00000461072,;RGS19,downstream_gene_variant,,ENST00000493165,;TCEA2,downstream_gene_variant,,ENST00000475236,;TCEA2,downstream_gene_variant,,ENST00000495168,;TCEA2,downstream_gene_variant,,ENST00000465433,;TCEA2,downstream_gene_variant,,ENST00000477783,;TCEA2,downstream_gene_variant,,ENST00000470559,;RGS19,downstream_gene_variant,,ENST00000479996,;	A	ENST00000395042	Transcript	missense_variant,splice_region_variant	730/1593	463/654	155/217	V/L	Gtg/Ttg		1		-1	RGS19	HGNC	HGNC:13735	protein_coding	YES	CCDS13555.1	ENSP00000378483	P49795		UPI0000133838	NM_005873.2	deleterious(0)		6/6		Gene3D:1.10.167.10,Pfam_domain:PF00615,Prints_domain:PR01301,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF145,SMART_domains:SM00315,Superfamily_domains:SSF48097																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	16	64074044	64074044	C	A	1	0	0	0	0	1	0	0	0	13472	521	18	2		2	RGS19	20	64074044	Missense_Mutation	SNP	C	C3L-00412_TP	45563	64074044	370123	123	7021											
UMODL1	0	.	GRCh38	chr21	42111140	42111140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtgcccagcactgccccgGgtctggggatggaccagggg	6	5	18	12	1	1	0	0	0	1	0	1	2	1	2	4	7	3	1	4	7	0	0	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.1918G>T	p.Gly640Cys	p.G640C	ENST00000408989	11/22	178	164	14	318	317	1	strelka-varscan-mutect	UMODL1,missense_variant,p.Gly568Cys,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.Gly640Cys,ENST00000408989,NM_173568.3;UMODL1,intron_variant,,ENST00000400424,NM_001199528.2;UMODL1,intron_variant,,ENST00000408910,NM_001004416.2;UMODL1-AS1,upstream_gene_variant,,ENST00000329015,;UMODL1,upstream_gene_variant,,ENST00000475047,;	T	ENST00000408989	Transcript	missense_variant	1918/5262	1918/4341	640/1446	G/C	Ggt/Tgt		1		1	UMODL1	HGNC	HGNC:12560	protein_coding	YES	CCDS42935.1	ENSP00000386126	Q5DID0		UPI0000D6254B	NM_173568.3	tolerated(0.1)		11/22																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	16	42111140	42111140	G	T	1	0	0	0	0	1	0	0	0	17504	1232	43	2		2	UMODL1	21	42111140	Missense_Mutation	SNP	G	C3L-00412_TP		42111140	4598843	124	7022											
CECR2	0	.	GRCh38	chr22	17549040	17549040	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctgcaaggctgtgagacActgaatgctgccttaacttc	10	11	10	10	0	1	2	0	2	1	1	2	3	1	2	1	1	4	3	1	1	3	2	novel		C3L-00412_TP	C3L-00412_NB	A	A																c.3261A>G	p.=	p.T1087T	ENST00000400585	17/19	156	142	14	171	170	1	strelka-varscan-mutect	CECR2,synonymous_variant,p.=,ENST00000612582,;CECR2,synonymous_variant,p.=,ENST00000342247,NM_001290047.1;CECR2,synonymous_variant,p.=,ENST00000400585,NM_001290046.1;CECR2,synonymous_variant,p.=,ENST00000262608,;CECR2,synonymous_variant,p.=,ENST00000355219,;	G	ENST00000400585	Transcript	synonymous_variant	3699/4833	3261/3903	1087/1300	T	acA/acG		1		1	CECR2	HGNC	HGNC:1840	protein_coding	YES	CCDS77646.1	ENSP00000383428		B7WPH3	UPI000198C520	NM_001290046.1			17/19																			LOW	1	SNV	1			1										PASS		rs1288722407	.												G	2	3	16	17549040	17549040	A	G	1	0	0	0	0	0	0	0	1	2913	146	6	5		5	CECR2	22	17549040	Silent	SNP	A	C3L-00412_TP		17549040	33269428	125	7023											
FRMPD4	0	.	GRCh38	chrX	12717580	12717580	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactcttctgaaatgactgaGagttctgaactggccacagc	12	10	9	10	0	3	4	0	4	3	1	3	5	3	4	1	1	3	1	1	1	3	2	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.2754G>A	p.=	p.E918E	ENST00000380682	16/17	87	75	12	93	93	0	strelka-mutect	FRMPD4,synonymous_variant,p.=,ENST00000380682,NM_014728.3;FRMPD4,synonymous_variant,p.=,ENST00000616992,;	A	ENST00000380682	Transcript	synonymous_variant	3260/8465	2754/3969	918/1322	E	gaG/gaA		1		1	FRMPD4	HGNC	HGNC:29007	protein_coding	YES	CCDS35201.1	ENSP00000370057	Q14CM0		UPI00001C2066	NM_014728.3			16/17		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	16	12717580	12717580	G	A	1	0	0	0	0	0	0	0	1	5930	933	33	3		3	FRMPD4	23	12717580	Silent	SNP	G	C3L-00412_TP		12717580	143323315	126	7024											
FAM120C	0	.	GRCh38	chrX	54135030	54135030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggattcccccaaagcatGggaggagaagagaagagatg	15	5	15	6	0	0	3	0	0	0	3	1	8	1	5	2	3	1	1	2	3	3	1	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.1417C>A	p.His473Asn	p.H473N	ENST00000375180	7/16	65	46	19	65	65	0	strelka-varscan-mutect	FAM120C,missense_variant,p.His473Asn,ENST00000375180,NM_017848.5;FAM120C,missense_variant,p.His473Asn,ENST00000328235,NM_001300788.1;	T	ENST00000375180	Transcript	missense_variant	1474/8057	1417/3291	473/1096	H/N	Cat/Aat		1		-1	FAM120C	HGNC	HGNC:16949	protein_coding	YES	CCDS14356.1	ENSP00000364324	Q9NX05		UPI00001D68ED	NM_017848.5	tolerated(0.39)		7/16		hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF15																	MODERATE	1	SNV	1			1										PASS		rs782380910	.												T	3	4	16	54135030	54135030	G	T	1	0	0	0	0	1	0	0	0	5275	1348	47	2		2	FAM120C	23	54135030	Missense_Mutation	SNP	G	C3L-00412_TP	41417450	54135030	101905865	127	7025											
NRK	0	.	GRCh38	chrX	105908257	105908257	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaatacctttgatctttGaaagagaagaagctattaag	17	11	9	4	0	1	4	0	2	1	2	1	6	1	5	1	1	2	1	1	1	8	5	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.1039G>T	p.Glu347Ter	p.E347*	ENST00000243300	12/29	54	44	10	50	50	0	strelka-varscan-mutect	NRK,stop_gained,p.Glu347Ter,ENST00000243300,NM_198465.3;NRK,3_prime_UTR_variant,,ENST00000428173,;	T	ENST00000243300	Transcript	stop_gained	1342/8062	1039/4749	347/1582	E/*	Gaa/Taa		1		1	NRK	HGNC	HGNC:25391	protein_coding	YES	CCDS65305.1	ENSP00000434830	Q7Z2Y5		UPI0000418886	NM_198465.3			12/29		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF417,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	16	105908257	105908257	G	T	1	0	0	0	0	0	1	0	0	10713	1291	45	2		2	NRK	23	105908257	Nonsense_Mutation	SNP	G	C3L-00412_TP	51773227	105908257	50132638	128	7026											
LHFPL1	0	.	GRCh38	chrX	112671187	112671187	+	Frame_Shift_Del	DEL	C	C	-																															gcattgaagctggcatagcgCccacattcttccaccatgat																								novel		C3L-00412_TP	C3L-00412_NB	C	C																c.204delG	p.Arg69AlafsTer19	p.R69Afs*19	ENST00000371968	2/4	91	81	10	105	105	0	sindel-varindel-pindel	LHFPL1,frameshift_variant,p.Arg69AlafsTer19,ENST00000371968,NM_178175.3;LHFPL1,intron_variant,,ENST00000478229,;	-	ENST00000371968	Transcript	frameshift_variant	444/1675	204/663	68/220	G/X	ggG/gg		1		-1	LHFPL1	HGNC	HGNC:6587	protein_coding	YES	CCDS14562.1	ENSP00000361036	Q86WI0		UPI00000622AD	NM_178175.3			2/4		hmmpanther:PTHR12489:SF15,hmmpanther:PTHR12489,Pfam_domain:PF10242																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	16	112671187	112671187	C	-	1	0	1	0	1	0	0	0	0	8673	726	26	0		0	LHFPL1	23	112671187	Frame_Shift_Del	DEL	C	C3L-00412_TP	6762930	112671187	43369708	129	7027											
PRR32	0	.	GRCh38	chrX	126821289	126821289	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttctttcccactcaggggCccatgccaccccatgcataa	8	10	7	16	0	2	0	1	0	1	0	3	0	3	0	5	2	2	2	5	2	1	3	novel		C3L-00412_TP	C3L-00412_NB	C	C																c.651C>A	p.=	p.G217G	ENST00000371125	2/2	134	108	26	140	139	1	strelka-varscan-mutect	PRR32,synonymous_variant,p.=,ENST00000371125,NM_001122716.1;	A	ENST00000371125	Transcript	synonymous_variant	731/1228	651/897	217/298	G	ggC/ggA		1		1	PRR32	HGNC	HGNC:34498	protein_coding	YES	CCDS48163.1	ENSP00000360166	B1ATL7		UPI00004A3B00	NM_001122716.1			2/2		Pfam_domain:PF15488,hmmpanther:PTHR37343,hmmpanther:PTHR37343:SF1																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	16	126821289	126821289	C	A	1	0	0	0	0	0	0	0	1	12738	726	26	2		2	PRR32	23	126821289	Silent	SNP	C	C3L-00412_TP	14150102	126821289	29219606	130	7028											
ADGRG4	0	.	GRCh38	chrX	136363494	136363494	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcaatcagcatcaacaCgggcaaatctcagtgggaaa	15	7	9	10	1	4	0	4	0	1	0	5	1	4	1	0	2	2	3	0	2	4	1	rs143014685		C3L-00412_TP	C3L-00412_NB	C	C																c.7295C>A	p.Thr2432Lys	p.T2432K	ENST00000394143	13/26	128	117	11	92	92	0	strelka-varscan-mutect	ADGRG4,missense_variant,p.Thr2432Lys,ENST00000394143,NM_153834.3;ADGRG4,missense_variant,p.Thr2432Lys,ENST00000370652,;ADGRG4,missense_variant,p.Thr2227Lys,ENST00000394141,;	A	ENST00000394143	Transcript	missense_variant	7586/9931	7295/9243	2432/3080	T/K	aCg/aAg	rs143014685	1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3	deleterious(0)		13/26		hmmpanther:PTHR12011:SF277,hmmpanther:PTHR12011																	MODERATE	1	SNV	1			1										PASS		rs143014685	.												A	3	1	16	136363494	136363494	C	A	1	0	0	0	0	1	0	0	0	371	536	19	1		1	ADGRG4	23	136363494	Missense_Mutation	SNP	C	C3L-00412_TP	9542205	136363494	19677401	131	7029											
CNGA2	0	.	GRCh38	chrX	151738505	151738505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgaaaaaaccaatggtGtgaagagctccccagccaat	15	6	9	11	1	0	3	0	2	0	1	1	4	1	3	5	1	3	1	5	1	6	0	rs773056408		C3L-00412_TP	C3L-00412_NB	G	G																c.22G>A	p.Val8Met	p.V8M	ENST00000329903	1/6	92	85	7	82	82	0	strelka-varscan-mutect	CNGA2,missense_variant,p.Val8Met,ENST00000329903,NM_005140.1;	A	ENST00000329903	Transcript	missense_variant	55/2834	22/1995	8/664	V/M	Gtg/Atg	rs773056408,COSM4637553	1		1	CNGA2	HGNC	HGNC:2149	protein_coding	YES	CCDS14701.1	ENSP00000328478	Q16280		UPI000003E7AE	NM_005140.1	tolerated_low_confidence(0.19)		1/6		hmmpanther:PTHR10217:SF389,hmmpanther:PTHR10217											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs773056408	.												A	3	1	16	151738505	151738505	G	A	1	0	0	0	0	1	0	0	0	3377	1377	48	3		3	CNGA2	23	151738505	Missense_Mutation	SNP	G	C3L-00412_TP	15375011	151738505	4302390	132	7030											
MAGEA3	0	.	GRCh38	chrX	152701625	152701625	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accggcaggtccccggcagtGatcctgcatgttatgaattc	8	10	11	12	2	0	2	0	2	0	0	3	2	2	2	4	3	1	4	4	3	2	2	novel		C3L-00412_TP	C3L-00412_NB	G	G																c.793G>C	p.Asp265His	p.D265H	ENST00000598245	3/3	109	99	10	137	137	0	varscan-mutect	MAGEA3,missense_variant,p.Asp265His,ENST00000598245,;MAGEA3,missense_variant,p.Asp265His,ENST00000370278,NM_005362.3;MAGEA3,downstream_gene_variant,,ENST00000417212,;	C	ENST00000598245	Transcript	missense_variant	1051/1762	793/945	265/314	D/H	Gat/Cat		1		1	MAGEA3	HGNC	HGNC:6801	protein_coding	YES	CCDS76045.1	ENSP00000473093	P43357		UPI0000062194		deleterious(0.01)		3/3		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF60,hmmpanther:PTHR11736,Pfam_domain:PF01454,SMART_domains:SM01373																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	16	152701625	152701625	G	C	1	0	0	0	0	1	0	0	0	9083	1290	45	4		4	MAGEA3	23	152701625	Missense_Mutation	SNP	G	C3L-00412_TP	963120	152701625	3339270	133	7031											
NBPF12	0	.	GRCh38	chr1	146987998	146987998	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagagcctgaagtcttgcAggactcactggatagatgtt	11	11	12	7	0	2	3	1	1	1	2	2	5	2	5	1	2	2	3	1	2	3	4	novel		C3L-00422_TP	C3L-00422_NB	A	A																c.3161A>T	p.Gln1054Leu	p.Q1054L	ENST00000617931	28/36	102	95	7	167	164	3	varscan-mutect	NBPF12,missense_variant,p.Gln1054Leu,ENST00000617931,;NBPF12,missense_variant,p.Gln1054Leu,ENST00000617844,NM_001278141.1;NBPF12,missense_variant,p.Gln1054Leu,ENST00000611443,;NBPF12,missense_variant,p.Gln783Leu,ENST00000579935,;NBPF12,missense_variant,p.Gln783Leu,ENST00000617614,;NBPF12,missense_variant,p.Gln708Leu,ENST00000613714,;NBPF12,missense_variant,p.Gln437Leu,ENST00000439206,;NBPF12,3_prime_UTR_variant,,ENST00000617864,;	T	ENST00000617931	Transcript	missense_variant	4221/7061	3161/4374	1054/1457	Q/L	cAg/cTg		1		1	NBPF12	HGNC	HGNC:24297	protein_coding	YES	CCDS72881.1	ENSP00000478609		A0A087WUF1	UPI00032968BC		deleterious(0.01)		28/36		PROSITE_profiles:PS51316,Pfam_domain:PF06758,SMART_domains:SM01148																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	17	146987998	146987998	A	T	1	0	0	0	0	1	0	0	0	10206	188	7	4		4	NBPF12	1	146987998	Missense_Mutation	SNP	A	C3L-00422_TP		146987998	101968424	1	7032											
TCHH	0	.	GRCh38	chr1	152111740	152111740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgctcgcgcctctcctcctCctcgagcttcagccaacgtt	4	11	7	19	4	2	0	1	0	1	0	7	1	4	0	5	0	4	3	5	0	1	2	rs201131683		C3L-00422_TP	C3L-00422_NB	C	C																c.1477G>C	p.Glu493Gln	p.E493Q	ENST00000614923	3/3	283	265	18	297	292	5	varscan-mutect	TCHH,missense_variant,p.Glu493Gln,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Glu493Gln,ENST00000368804,;	G	ENST00000614923	Transcript	missense_variant	1572/6995	1477/5832	493/1943	E/Q	Gag/Cag	rs201131683	1		-1	TCHH	HGNC	HGNC:11791	protein_coding	YES	CCDS41396.1	ENSP00000480484	Q07283		UPI0000458A5E	NM_007113.3			3/3		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855:SF1,hmmpanther:PTHR34855																	MODERATE	1	SNV	5			1										PASS		rs201131683	.												G	3	3	17	152111740	152111740	C	G	1	0	0	0	0	1	0	0	0	16107	864	30	4		4	TCHH	1	152111740	Missense_Mutation	SNP	C	C3L-00422_TP	5123742	152111740	96844682	2	7033											
RAPGEF4	0	.	GRCh38	chr2	172795157	172795157	+	Frame_Shift_Del	DEL	G	G	-																															tattatgagaatctggaaaaGggaataacatgtaagaaatg																								rs187369427		C3L-00422_TP	C3L-00422_NB	G	G																c.200delG	p.Gly67GlufsTer2	p.G67Efs*2	ENST00000397081	2/31	38	34	4	99	99	0	varindel-pindel	RAPGEF4,frameshift_variant,p.Gly67GlufsTer2,ENST00000397081,NM_007023.3;RAPGEF4,frameshift_variant,p.Gly67GlufsTer2,ENST00000409036,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000464976,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000484331,;	-	ENST00000397081	Transcript	frameshift_variant	341/4299	198/3036	66/1011	K/X	aaG/aa	rs187369427	1		1	RAPGEF4	HGNC	HGNC:16626	protein_coding	YES	CCDS42775.1	ENSP00000380271	Q8WZA2		UPI000006D4C7	NM_007023.3			2/31		Gene3D:2.60.120.10,Pfam_domain:PF00027,PROSITE_profiles:PS50042,SMART_domains:SM00100,Superfamily_domains:SSF51206																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	17	172795157	172795157	G	-	1	0	1	0	1	0	0	0	0	13205	991	35	0		0	RAPGEF4	2	172795157	Frame_Shift_Del	DEL	G	C3L-00422_TP		172795157	69398372	3	7034											
HRH1	0	.	GRCh38	chr3	11259609	11259609	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgatgtcacctggttcaAggtcatgactgccatcatca	10	12	8	11	0	5	2	5	2	0	0	5	2	5	2	2	2	1	1	2	2	2	2	novel		C3L-00422_TP	C3L-00422_NB	A	A																c.572A>G	p.Lys191Arg	p.K191R	ENST00000397056	3/3	115	109	6	127	127	0	strelka-mutect	HRH1,missense_variant,p.Lys191Arg,ENST00000397056,NM_000861.3;HRH1,missense_variant,p.Lys191Arg,ENST00000431010,NM_001098212.1,NM_001098211.1;HRH1,missense_variant,p.Lys191Arg,ENST00000438284,NM_001098213.1;HRH1,downstream_gene_variant,,ENST00000413416,;	G	ENST00000397056	Transcript	missense_variant	763/4711	572/1464	191/487	K/R	aAg/aGg		1		1	HRH1	HGNC	HGNC:5182	protein_coding	YES	CCDS2604.1	ENSP00000380247	P35367		UPI0000050401	NM_000861.3	deleterious(0.01)		3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR00530,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF239,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	17	11259609	11259609	A	G	1	0	0	0	0	1	0	0	0	7250	72	3	5		5	HRH1	3	11259609	Missense_Mutation	SNP	A	C3L-00422_TP		11259609	187035950	4	7035											
SVEP1	0	.	GRCh38	chr9	110406786	110406786	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagagaggaatctctgcAtcccagttgccatctgactg	10	11	9	11	0	2	2	0	1	2	1	4	4	3	3	2	1	3	2	2	1	2	2	novel		C3L-00422_TP	C3L-00422_NB	A	A																c.8814T>G	p.Asp2938Glu	p.D2938E	ENST00000374469	38/48	152	133	19	184	183	1	strelka-varscan-mutect	SVEP1,missense_variant,p.Asp2941Glu,ENST00000401783,;SVEP1,missense_variant,p.Asp2938Glu,ENST00000374469,NM_153366.3;	C	ENST00000374469	Transcript	missense_variant	9009/12194	8814/10716	2938/3571	D/E	gaT/gaG		1		-1	SVEP1	HGNC	HGNC:15985	protein_coding	YES	CCDS48004.1	ENSP00000363593	Q4LDE5		UPI000153DA74	NM_153366.3	deleterious(0.01)		38/48		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	17	110406786	110406786	A	C	1	0	0	0	0	1	0	0	0	15805	214	8	5		5	SVEP1	9	110406786	Missense_Mutation	SNP	A	C3L-00422_TP		110406786	27987931	5	7036											
FNBP4	0	.	GRCh38	chr11	47754556	47754556	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttggccaatgtactatcaAtatcagttgactggtttcca	11	14	8	8	0	2	1	2	1	0	0	3	1	3	1	2	2	1	4	2	2	5	6			C3L-00422_TP	C3L-00422_NB	A	A																c.422T>A	p.Ile141Asn	p.I141N	ENST00000263773	3/17	95	76	19	91	91	0	strelka-varscan-mutect	FNBP4,missense_variant,p.Ile141Asn,ENST00000263773,NM_001318339.1,NM_015308.2;FNBP4,intron_variant,,ENST00000540172,;FNBP4,non_coding_transcript_exon_variant,,ENST00000534003,;FNBP4,non_coding_transcript_exon_variant,,ENST00000542975,;FNBP4,non_coding_transcript_exon_variant,,ENST00000533707,;	T	ENST00000263773	Transcript	missense_variant	435/3972	422/3054	141/1017	I/N	aTt/aAt	COSM927500	1		-1	FNBP4	HGNC	HGNC:19752	protein_coding	YES	CCDS41644.1	ENSP00000263773	Q8N3X1		UPI0000DBEF37	NM_001318339.1,NM_015308.2	deleterious(0)		3/17													1						MODERATE	1	SNV	1		1	1										PASS		rs1487583260	.												T	3	4	17	47754556	47754556	A	T	1	0	0	0	0	1	0	0	0	5823	101	4	4		4	FNBP4	11	47754556	Missense_Mutation	SNP	A	C3L-00422_TP		47754556	87332066	6	7037											
DDIAS	0	.	GRCh38	chr11	82930261	82930261	+	Frame_Shift_Del	DEL	T	T	-																															ctttgttggacaaagctttaTttttggagtgacggtaattg																								novel		C3L-00422_TP	C3L-00422_NB	T	T																c.384delT	p.Phe128LeufsTer3	p.F128Lfs*3	ENST00000533655	5/6	59	56	3	136	136	0	varindel-pindel	DDIAS,frameshift_variant,p.Phe128LeufsTer3,ENST00000533655,NM_145018.3;DDIAS,frameshift_variant,p.Phe128LeufsTer3,ENST00000329143,;DDIAS,frameshift_variant,p.Phe128LeufsTer3,ENST00000525361,;DDIAS,frameshift_variant,p.Phe189LeufsTer3,ENST00000532764,;DDIAS,intron_variant,,ENST00000528759,;DDIAS,intron_variant,,ENST00000525388,;PRCP,intron_variant,,ENST00000534396,;DDIAS,intron_variant,,ENST00000524921,;DDIAS,downstream_gene_variant,,ENST00000532277,;DDIAS,downstream_gene_variant,,ENST00000528262,;DDIAS,downstream_gene_variant,,ENST00000532589,;DDIAS,non_coding_transcript_exon_variant,,ENST00000533750,;DDIAS,downstream_gene_variant,,ENST00000528189,;	-	ENST00000533655	Transcript	frameshift_variant	592/3533	380/2997	127/998	I/X	aTt/at		1		1	DDIAS	HGNC	HGNC:26351	protein_coding	YES	CCDS8263.1	ENSP00000435421	Q8IXT1		UPI00001AF966	NM_145018.3			5/6		hmmpanther:PTHR35537,hmmpanther:PTHR35537:SF1,Superfamily_domains:SSF50249																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	17	82930261	82930261	T	-	1	0	1	0	1	0	0	0	0	4133	1493	52	0		0	DDIAS	11	82930261	Frame_Shift_Del	DEL	T	C3L-00422_TP	35175705	82930261	52156361	7	7038											
SLC26A10	0	.	GRCh38	chr12	57622835	57622835	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgagctgcccaggattctGgctgactcgctgcccattgc	5	10	12	14	1	1	2	0	2	1	0	2	3	1	3	2	2	4	4	2	2	0	2	novel		C3L-00422_TP	C3L-00422_NB	G	G																c.840G>A	p.=	p.L280L	ENST00000320442	6/14	51	45	6	109	107	2	varscan-mutect	SLC26A10,synonymous_variant,p.=,ENST00000320442,NM_133489.2;B4GALNT1,downstream_gene_variant,,ENST00000341156,NM_001478.4;B4GALNT1,downstream_gene_variant,,ENST00000418555,NM_001276468.1;B4GALNT1,downstream_gene_variant,,ENST00000547741,;SLC26A10,downstream_gene_variant,,ENST00000637859,;AC025165.8,upstream_gene_variant,,ENST00000356672,;AC025165.8,upstream_gene_variant,,ENST00000444467,;AC025165.8,upstream_gene_variant,,ENST00000593846,;ARHGEF25,downstream_gene_variant,,ENST00000477314,;SLC26A10,upstream_gene_variant,,ENST00000490243,;SLC26A10,upstream_gene_variant,,ENST00000483647,;SLC26A10,synonymous_variant,p.=,ENST00000474359,;SLC26A10,synonymous_variant,p.=,ENST00000440686,;B4GALNT1,downstream_gene_variant,,ENST00000553142,;B4GALNT1,downstream_gene_variant,,ENST00000552468,;B4GALNT1,downstream_gene_variant,,ENST00000552798,;SLC26A10,upstream_gene_variant,,ENST00000487816,;SLC26A10,upstream_gene_variant,,ENST00000474791,;SLC26A10,downstream_gene_variant,,ENST00000497297,;SLC26A10,downstream_gene_variant,,ENST00000463802,;	A	ENST00000320442	Transcript	synonymous_variant	1151/2389	840/1692	280/563	L	ctG/ctA		1		1	SLC26A10	HGNC	HGNC:14470	protein_coding	YES	CCDS8949.2	ENSP00000320217	Q8NG04		UPI000007059E	NM_133489.2			6/14		hmmpanther:PTHR11814:SF99,hmmpanther:PTHR11814,Pfam_domain:PF00916																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	17	57622835	57622835	G	A	1	0	0	0	0	0	0	0	1	14785	1335	47	3		3	SLC26A10	12	57622835	Silent	SNP	G	C3L-00422_TP		57622835	75652474	8	7039											
ATL1	0	.	GRCh38	chr14	50628096	50628096	+	Frame_Shift_Del	DEL	G	G	-																															accaaacacctgcaacttaaGgaagaatctgtgaagctatt																										C3L-00422_TP	C3L-00422_NB	G	G																c.1186delG	p.Glu396LysfsTer4	p.E396Kfs*4	ENST00000358385	12/14	115	102	13	200	200	0	sindel-varindel-pindel	ATL1,frameshift_variant,p.Glu396LysfsTer4,ENST00000441560,NM_001127713.1,NM_181598.3;ATL1,frameshift_variant,p.Glu396LysfsTer4,ENST00000358385,NM_015915.4;SAV1,downstream_gene_variant,,ENST00000555720,;ATL1,3_prime_UTR_variant,,ENST00000555266,;ATL1,upstream_gene_variant,,ENST00000556067,;	-	ENST00000358385	Transcript	frameshift_variant	1426/2647	1185/1677	395/558	K/X	aaG/aa	COSM5644646	1		1	ATL1	HGNC	HGNC:11231	protein_coding	YES	CCDS9700.1	ENSP00000351155	Q8WXF7	A0A0S2Z5B0	UPI0000073893	NM_015915.4			12/14		hmmpanther:PTHR10751:SF15,hmmpanther:PTHR10751,Gene3D:1f5nA01,Superfamily_domains:0037397											1						HIGH	1	deletion	1	1	1	1										PASS		.	.												-	7	5	17	50628096	50628096	G	-	1	0	1	0	1	0	0	0	0	1258	991	35	0		0	ATL1	14	50628096	Frame_Shift_Del	DEL	G	C3L-00422_TP		50628096	56415622	9	7040											
MGA	0	.	GRCh38	chr15	41696714	41696714	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagaaagaatactcgacgaTtcaaaggattcagttggaga	17	8	10	6	2	2	3	2	0	0	3	3	7	2	4	0	2	1	1	0	2	4	4	novel		C3L-00422_TP	C3L-00422_NB	T	T																c.1704T>G	p.Asp568Glu	p.D568E	ENST00000219905	3/24	69	56	13	178	178	0	strelka-varscan-mutect	MGA,missense_variant,p.Asp568Glu,ENST00000566586,;MGA,missense_variant,p.Asp568Glu,ENST00000219905,NM_001164273.1;MGA,missense_variant,p.Asp568Glu,ENST00000570161,;MGA,missense_variant,p.Asp568Glu,ENST00000545763,NM_001080541.2;MGA,missense_variant,p.Asp568Glu,ENST00000563576,;MGA,missense_variant,p.Asp568Glu,ENST00000566718,;MGA,downstream_gene_variant,,ENST00000568630,;	G	ENST00000219905	Transcript	missense_variant	1885/12042	1704/9198	568/3065	D/E	gaT/gaG		1		1	MGA	HGNC	HGNC:14010	protein_coding	YES	CCDS55959.1	ENSP00000219905	Q8IWI9		UPI0001B2337E	NM_001164273.1	tolerated(0.08)		3/24		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	17	41696714	41696714	T	G	1	0	0	0	0	1	0	0	0	9498	1490	52	5		5	MGA	15	41696714	Missense_Mutation	SNP	T	C3L-00422_TP		41696714	60294475	10	7041											
PANX2	0	.	GRCh38	chr22	50177108	50177108	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgcgctgctggccttcgcCgccatcatgtacgtgcccgc	4	9	11	17	6	1	0	1	0	0	0	2	0	1	0	4	1	4	3	4	1	2	3	novel		C3L-00422_TP	C3L-00422_NB	C	C																c.396C>T	p.=	p.A132A	ENST00000395842	2/3	134	98	36	134	134	0	strelka-varscan-mutect	PANX2,synonymous_variant,p.=,ENST00000395842,NM_052839.3;PANX2,synonymous_variant,p.=,ENST00000159647,NM_001160300.1;PANX2,3_prime_UTR_variant,,ENST00000402472,;	T	ENST00000395842	Transcript	synonymous_variant	396/3051	396/2034	132/677	A	gcC/gcT		1		1	PANX2	HGNC	HGNC:8600	protein_coding	YES	CCDS14085.2	ENSP00000379183	Q96RD6		UPI0000E070D3	NM_052839.3			2/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS51013,hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF7,Pfam_domain:PF00876																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	17	50177108	50177108	C	T	1	0	0	0	0	0	0	0	1	11502	639	23	1		1	PANX2	22	50177108	Silent	SNP	C	C3L-00422_TP		50177108	641360	11	7042											
ARMCX4	0	.	GRCh38	chrX	101493876	101493876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccaggcctgatgataaaGatgaggccactactgcatcc	11	9	10	11	0	0	4	0	3	0	1	2	4	2	4	4	2	2	1	4	2	3	2	novel		C3L-00422_TP	C3L-00422_NB	G	G																c.5287G>A	p.Asp1763Asn	p.D1763N	ENST00000423738	2/2	235	216	19	174	173	1	strelka-varscan-mutect	ARMCX4,missense_variant,p.Asp1763Asn,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000455331,;	A	ENST00000423738	Transcript	missense_variant	5489/7424	5287/6873	1763/2290	D/N	Gat/Aat		1		1	ARMCX4	HGNC	HGNC:28615	protein_coding	YES	CCDS59170.1	ENSP00000404304		F8W8Y7	UPI000442CF06	NM_001256155.2	tolerated(0.72)		2/2																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	17	101493876	101493876	G	A	1	0	0	0	0	1	0	0	0	1102	942	33	3		3	ARMCX4	23	101493876	Missense_Mutation	SNP	G	C3L-00422_TP		101493876	54547019	12	7043											
SRM	0	.	GRCh38	chr1	11059911	11059911	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggatggcggcggggccGgaggcggcggggccgtcggg	2	3	25	11	9	0	0	0	0	0	0	2	2	0	2	2	11	0	0	2	11	0	0	novel		C3L-00510_TP	C3L-00510_NB	G	G																c.33C>T	p.=	p.S11S	ENST00000376957	1/8	61	57	4	77	77	0	strelka-mutect	SRM,synonymous_variant,p.=,ENST00000376957,NM_003132.2;SRM,upstream_gene_variant,,ENST00000487300,;SRM,upstream_gene_variant,,ENST00000490101,;SRM,upstream_gene_variant,,ENST00000465788,;SRM,synonymous_variant,p.=,ENST00000459997,;SRM,upstream_gene_variant,,ENST00000475189,;	A	ENST00000376957	Transcript	synonymous_variant	114/1266	33/909	11/302	S	tcC/tcT		1		-1	SRM	HGNC	HGNC:11296	protein_coding	YES	CCDS125.1	ENSP00000366156	P19623		UPI0000049054	NM_003132.2			1/8		PIRSF_domain:PIRSF000502,hmmpanther:PTHR11558,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	18	11059911	11059911	G	A	1	0	0	0	0	0	0	0	1	15512	1103	39	1		1	SRM	1	11059911	Silent	SNP	G	C3L-00510_TP		11059911	237896511	1	7044											
CCDC17	0	.	GRCh38	chr1	45622563	45622563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcacctctgcgggtctgcGaccgctgcagctccagtgca	5	9	12	15	3	3	0	1	0	2	0	4	1	4	0	3	1	5	5	3	1	0	1	novel		C3L-00510_TP	C3L-00510_NB	G	G																c.845C>T	p.Ser282Leu	p.S282L	ENST00000528266	6/13	125	77	48	179	179	0	strelka-mutect	CCDC17,missense_variant,p.Ser273Leu,ENST00000421127,NM_001190182.1;CCDC17,missense_variant,p.Ser282Leu,ENST00000528266,NM_001114938.2;CCDC17,intron_variant,,ENST00000445048,;GPBP1L1,downstream_gene_variant,,ENST00000355105,NM_021639.4;GPBP1L1,downstream_gene_variant,,ENST00000290795,;NASP,downstream_gene_variant,,ENST00000350030,NM_002482.3;NASP,downstream_gene_variant,,ENST00000537798,NM_001195193.1;NASP,downstream_gene_variant,,ENST00000351223,NM_152298.3;NASP,downstream_gene_variant,,ENST00000372052,;NASP,downstream_gene_variant,,ENST00000531612,;NASP,downstream_gene_variant,,ENST00000534450,;CCDC17,non_coding_transcript_exon_variant,,ENST00000464739,;GPBP1L1,downstream_gene_variant,,ENST00000479235,;NASP,downstream_gene_variant,,ENST00000530073,;CCDC17,missense_variant,p.Ser250Leu,ENST00000479529,;CCDC17,3_prime_UTR_variant,,ENST00000372044,;CCDC17,non_coding_transcript_exon_variant,,ENST00000482416,;CCDC17,non_coding_transcript_exon_variant,,ENST00000491755,;CCDC17,non_coding_transcript_exon_variant,,ENST00000525599,;NASP,downstream_gene_variant,,ENST00000481782,;NASP,downstream_gene_variant,,ENST00000472408,;	A	ENST00000528266	Transcript	missense_variant	993/2181	845/1869	282/622	S/L	tCg/tTg		1		-1	CCDC17	HGNC	HGNC:26574	protein_coding	YES	CCDS44131.2	ENSP00000432172	Q96LX7		UPI0001AE78A9	NM_001114938.2	tolerated(0.25)		6/13		hmmpanther:PTHR33820																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	18	45622563	45622563	G	A	1	0	0	0	0	1	0	0	0	2486	1059	37	1		1	CCDC17	1	45622563	Missense_Mutation	SNP	G	C3L-00510_TP	34562652	45622563	203333859	2	7045											
ZNF648	0	.	GRCh38	chr1	182056586	182056586	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacactgcgtgcaaggaaaGggcctctcgccagtgtggat	9	7	13	12	2	1	0	0	0	1	0	2	2	1	2	3	3	2	1	3	3	2	0	novel		C3L-00510_TP	C3L-00510_NB	G	G																c.1425C>T	p.=	p.P475P	ENST00000339948	2/2	317	243	74	311	311	0	strelka-varscan-mutect	ZNF648,synonymous_variant,p.=,ENST00000339948,NM_001009992.1;	A	ENST00000339948	Transcript	synonymous_variant	1633/3649	1425/1707	475/568	P	ccC/ccT		1		-1	ZNF648	HGNC	HGNC:18190	protein_coding	YES	CCDS30952.1	ENSP00000344129	Q5T619		UPI0000161414	NM_001009992.1			2/2		PROSITE_profiles:PS50157,hmmpanther:PTHR24376:SF1,hmmpanther:PTHR24376,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	18	182056586	182056586	G	A	1	0	0	0	0	0	0	0	1	18636	987	35	3		3	ZNF648	1	182056586	Silent	SNP	G	C3L-00510_TP	136434023	182056586	66899836	3	7046											
OR2L3	0	.	GRCh38	chr1	248060759	248060759	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagaattggccttttcctCttcatcctcattgttttcat	7	19	4	11	0	5	1	4	0	1	1	7	1	7	1	3	1	0	1	3	1	2	7	novel		C3L-00510_TP	C3L-00510_NB	C	C																c.78C>G	p.=	p.L26L	ENST00000359959	1/1	231	210	21	157	157	0	varscan-mutect	OR2L3,synonymous_variant,p.=,ENST00000359959,NM_001004687.1;	G	ENST00000359959	Transcript	synonymous_variant	78/939	78/939	26/312	L	ctC/ctG		1		1	OR2L3	HGNC	HGNC:15009	protein_coding	YES	CCDS31104.1	ENSP00000353044	Q8NG85		UPI0000061EB8	NM_001004687.1			1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR26453:SF166,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												G	2	3	18	248060759	248060759	C	G	1	0	0	0	0	0	0	0	1	11086	900	32	4		4	OR2L3	1	248060759	Silent	SNP	C	C3L-00510_TP	66004173	248060759	895663	4	7047											
CBWD2	0	.	GRCh38	chr2	113437884	113437884	+	Frame_Shift_Del	DEL	G	G	-																															ccggaatgttaccggctgttGgatctgcggatgaggaggag																								novel		C3L-00510_TP	C3L-00510_NB	G	G																c.17delG	p.Gly6AspfsTer46	p.G6Dfs*46	ENST00000259199	1/15	208	144	64	301	301	0	sindel-varindel-pindel	CBWD2,frameshift_variant,p.Gly6AspfsTer46,ENST00000259199,NM_172003.3;CBWD2,frameshift_variant,p.Gly6AspfsTer46,ENST00000416503,;CBWD2,frameshift_variant,p.Gly6AspfsTer46,ENST00000433343,;RP11-480C16.1,downstream_gene_variant,,ENST00000608834,;CBWD2,frameshift_variant,p.Gly6AspfsTer46,ENST00000358604,;CBWD2,frameshift_variant,p.Gly6AspfsTer46,ENST00000456188,;CBWD2,non_coding_transcript_exon_variant,,ENST00000492566,;CBWD2,non_coding_transcript_exon_variant,,ENST00000490323,;CBWD2,non_coding_transcript_exon_variant,,ENST00000463627,;	-	ENST00000259199	Transcript	frameshift_variant	194/1812	16/1188	6/395	G/X	Gga/ga		1		1	CBWD2	HGNC	HGNC:17907	protein_coding	YES	CCDS2116.1	ENSP00000259199	Q8IUF1		UPI000007478B	NM_172003.3			1/15																			HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	18	113437884	113437884	G	-	1	0	1	0	1	0	0	0	0	2413	1349	47	0		0	CBWD2	2	113437884	Frame_Shift_Del	DEL	G	C3L-00510_TP		113437884	128755645	5	7048											
SCAP	0	.	GRCh38	chr3	47419573	47419573	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggggggcagcatgccActaggcacgggcatgggagc	7	5	19	10	1	0	0	0	0	0	0	0	1	0	1	1	7	3	5	1	7	1	1	novel		C3L-00510_TP	C3L-00510_NB	A	A																c.1695T>C	p.=	p.S565S	ENST00000265565	13/23	65	35	30	112	112	0	strelka-varscan-mutect	SCAP,synonymous_variant,p.=,ENST00000265565,NM_012235.2;SCAP,synonymous_variant,p.=,ENST00000545718,;SCAP,intron_variant,,ENST00000428413,;SCAP,3_prime_UTR_variant,,ENST00000441517,NM_001320044.1;SCAP,3_prime_UTR_variant,,ENST00000320017,;SCAP,3_prime_UTR_variant,,ENST00000416208,;SCAP,downstream_gene_variant,,ENST00000465628,;SCAP,downstream_gene_variant,,ENST00000468965,;	G	ENST00000265565	Transcript	synonymous_variant	2108/4394	1695/3840	565/1279	S	agT/agC		1		-1	SCAP	HGNC	HGNC:30634	protein_coding	YES	CCDS2755.2	ENSP00000265565	Q12770		UPI0000135624	NM_012235.2			13/23		hmmpanther:PTHR10796:SF127,hmmpanther:PTHR10796																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	18	47419573	47419573	A	G	1	0	0	0	0	0	0	0	1	14143	156	6	5		5	SCAP	3	47419573	Silent	SNP	A	C3L-00510_TP		47419573	150875986	6	7049											
PRR23C	0	.	GRCh38	chr3	139044374	139044374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaggaccgacattggcgCgagctccagcaccaggtcga	9	5	13	14	5	0	0	0	0	0	0	3	4	1	1	3	3	2	3	3	3	0	1	rs770562080		C3L-00510_TP	C3L-00510_NB	C	C																c.247G>A	p.Ala83Thr	p.A83T	ENST00000413199	1/1	125	65	60	150	150	0	strelka-varscan-mutect	PRR23C,missense_variant,p.Ala83Thr,ENST00000413199,NM_001134657.1;MRPS22,intron_variant,,ENST00000495075,;	T	ENST00000413199	Transcript	missense_variant	519/2791	247/789	83/262	A/T	Gcg/Acg	rs770562080,COSM3392086	1		-1	PRR23C	HGNC	HGNC:37173	protein_coding	YES	CCDS46924.1	ENSP00000396648	Q6ZRP0		UPI00001C0F48	NM_001134657.1	deleterious(0.04)		1/1		hmmpanther:PTHR31813:SF6,hmmpanther:PTHR31813,Pfam_domain:PF10630											0,1						MODERATE		SNV			0,1	1										PASS		rs770562080	.												T	3	4	18	139044374	139044374	C	T	1	0	0	0	0	1	0	0	0	12731	768	27	1		1	PRR23C	3	139044374	Missense_Mutation	SNP	C	C3L-00510_TP	91624801	139044374	59251185	7	7050											
NAAA	0	.	GRCh38	chr4	75921102	75921102	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgccaacagctgcttcgaAgttttccgactcactcaggg	8	11	9	13	2	2	0	2	0	0	0	4	2	3	0	2	1	4	3	2	1	2	4	rs756840514		C3L-00510_TP	C3L-00510_NB	A	A																c.688T>A	p.Phe230Ile	p.F230I	ENST00000286733	6/11	43	24	19	75	75	0	strelka-varscan-mutect	NAAA,missense_variant,p.Phe230Ile,ENST00000286733,NM_014435.3;NAAA,missense_variant,p.Phe129Ile,ENST00000505594,;NAAA,missense_variant,p.Phe230Ile,ENST00000507956,;NAAA,missense_variant,p.Phe105Ile,ENST00000602782,;NAAA,upstream_gene_variant,,ENST00000511606,;NAAA,missense_variant,p.Phe35Ile,ENST00000513045,;	T	ENST00000286733	Transcript	missense_variant	790/1900	688/1080	230/359	F/I	Ttc/Atc	rs756840514	1		-1	NAAA	HGNC	HGNC:736	protein_coding	YES	CCDS43239.1	ENSP00000286733	Q02083		UPI00001AEAEE	NM_014435.3	deleterious(0)		6/11		Pfam_domain:PF02275,PIRSF_domain:PIRSF017632,hmmpanther:PTHR28583,hmmpanther:PTHR28583:SF4																	MODERATE	1	SNV	5			1										PASS		rs756840514	.												T	3	4	18	75921102	75921102	A	T	1	0	0	0	0	1	0	0	0	10131	72	3	4		4	NAAA	4	75921102	Missense_Mutation	SNP	A	C3L-00510_TP		75921102	114293453	8	7051											
SEMA5A	0	.	GRCh38	chr5	9108194	9108194	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcctgcggcgagcttgAatgccacccccgcattgggc	7	7	12	15	3	0	2	0	1	0	1	1	3	1	2	4	2	3	2	4	2	1	2	novel		C3L-00510_TP	C3L-00510_NB	A	A																c.2019T>C	p.=	p.I673I	ENST00000382496	16/23	162	149	13	160	160	0	strelka-varscan-mutect	SEMA5A,synonymous_variant,p.=,ENST00000382496,NM_003966.2;	G	ENST00000382496	Transcript	synonymous_variant	2685/11762	2019/3225	673/1074	I	atT/atC		1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2			16/23		PROSITE_profiles:PS50092,hmmpanther:PTHR11036:SF78,hmmpanther:PTHR11036,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	18	9108194	9108194	A	G	1	0	0	0	0	0	0	0	1	14313	242	9	5		5	SEMA5A	5	9108194	Silent	SNP	A	C3L-00510_TP		9108194	172430065	9	7052											
VCAN	0	.	GRCh38	chr5	83521784	83521784	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagtccttttagtaccCacattacccagcttatggaa	10	14	6	11	0	0	1	0	1	0	0	1	2	1	2	3	1	3	2	3	1	5	6	novel		C3L-00510_TP	C3L-00510_NB	C	C																c.3478C>A	p.His1160Asn	p.H1160N	ENST00000265077	7/15	138	128	10	154	153	1	strelka-varscan-mutect	VCAN,missense_variant,p.His1160Asn,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.His1160Asn,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.His1112Asn,ENST00000512590,;VCAN,intron_variant,,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,intron_variant,,ENST00000515397,;	A	ENST00000265077	Transcript	missense_variant	4043/12625	3478/10191	1160/3396	H/N	Cac/Aac		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	tolerated(0.48)		7/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	18	83521784	83521784	C	A	1	0	0	0	0	1	0	0	0	17683	594	21	2		2	VCAN	5	83521784	Missense_Mutation	SNP	C	C3L-00510_TP	74413590	83521784	98016475	10	7053											
ADGRV1	0	.	GRCh38	chr5	90694510	90694510	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtttgtgatctacaataTtagtcccaatacttccgaag	12	14	7	8	1	1	1	0	1	1	0	3	2	3	1	2	0	2	1	2	0	7	6	novel		C3L-00510_TP	C3L-00510_NB	T	T																c.7754T>G	p.Ile2585Ser	p.I2585S	ENST00000405460	33/90	353	243	110	388	388	0	strelka-varscan-mutect	ADGRV1,missense_variant,p.Ile2585Ser,ENST00000405460,NM_032119.3;ADGRV1,missense_variant,p.Ile151Ser,ENST00000509621,;	G	ENST00000405460	Transcript	missense_variant	7850/19338	7754/18921	2585/6306	I/S	aTt/aGt		1		1	ADGRV1	HGNC	HGNC:17416	protein_coding	YES	CCDS47246.1	ENSP00000384582	Q8WXG9		UPI00002127A7	NM_032119.3	tolerated(0.1)		33/90		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237																	MODERATE	1	SNV	1			1										PASS		rs1229881653	.												G	3	3	18	90694510	90694510	T	G	1	0	0	0	0	1	0	0	0	379	1493	52	5		5	ADGRV1	5	90694510	Missense_Mutation	SNP	T	C3L-00510_TP	7172726	90694510	90843749	11	7054											
TAAR1	0	.	GRCh38	chr6	132645539	132645539	+	Silent	SNP	T	T	C																															tccagaaagatcattccaaaTgcaaaaacagcagggacact																								novel		C3L-00510_TP	C3L-00510_NB	T	T																c.465A>G	p.=	p.A155A	ENST00000275216	1/1	170	148	22	194	194	0	strelka-varscan-mutect	TAAR1,synonymous_variant,p.=,ENST00000275216,NM_138327.1;	C	ENST00000275216	Transcript	synonymous_variant	465/1020	465/1020	155/339	A	gcA/gcG		1		-1	TAAR1	HGNC	HGNC:17734	protein_coding	YES	CCDS5158.1	ENSP00000275216	Q96RJ0		UPI000000D874	NM_138327.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF220,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												C	2	2	18	132645539	132645539	T	C	1	0	0	0	0	0	0	0	1	15885	1451	51	5		5	TAAR1	6	132645539	Silent	SNP	T	C3L-00510_TP		132645539	38160440	12	7055	161	2									
TAAR1	0	.	GRCh38	chr6	132645548	132645548	+	Silent	SNP	A	A	G																															atcattccaaatgcaaaaacAgcagggacactccaactaat																								novel		C3L-00510_TP	C3L-00510_NB	A	A																c.456T>C	p.=	p.A152A	ENST00000275216	1/1	185	160	25	206	206	0	strelka-varscan-mutect	TAAR1,synonymous_variant,p.=,ENST00000275216,NM_138327.1;	G	ENST00000275216	Transcript	synonymous_variant	456/1020	456/1020	152/339	A	gcT/gcC		1		-1	TAAR1	HGNC	HGNC:17734	protein_coding	YES	CCDS5158.1	ENSP00000275216	Q96RJ0		UPI000000D874	NM_138327.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF220,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												G	2	3	18	132645548	132645548	A	G	1	0	0	0	0	0	0	0	1	15885	175	7	5		5	TAAR1	6	132645548	Silent	SNP	A	C3L-00510_TP	9	132645548	38160431	13	7056	161	2									
EGFR	0	.	GRCh38	chr7	55142382	55142382	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caataactgtgaggtggtccTtgggaatttggaaattacct	11	13	11	6	0	0	1	0	1	0	0	1	3	1	3	2	4	2	0	2	4	5	4			C3L-00510_TP	C3L-00510_NB	T	T																c.185T>G	p.Leu62Arg	p.L62R	ENST00000275493	2/28	363	232	131	427	427	0	strelka-varscan	EGFR,missense_variant,p.Leu62Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu62Arg,ENST00000454757,;EGFR,missense_variant,p.Leu62Arg,ENST00000455089,;EGFR,missense_variant,p.Leu62Arg,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Leu62Arg,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.Leu62Arg,ENST00000420316,NM_201283.1;EGFR,missense_variant,p.Leu9Arg,ENST00000450046,;	G	ENST00000275493	Transcript	missense_variant	362/9821	185/3633	62/1210	L/R	cTt/cGt	COSM35602,COSM5253287,COSM601589	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0.01)		2/28		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Pfam_domain:PF01030,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Superfamily_domains:SSF52058											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												G	3	3	18	55142382	55142382	T	G	1	0	0	0	0	1	0	0	0	4803	1609	56	5		5	EGFR	7	55142382	Missense_Mutation	SNP	T	C3L-00510_TP		55142382	104203591	14	7057											
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcacagattttgggcTggccaaactgctgggtgcgg	9	9	14	9	1	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	2	2	rs121434568		C3L-00510_TP	C3L-00510_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	389	226	163	593	593	0	strelka-varscan	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												G	3	3	18	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3L-00510_TP	49440	55191822	104154151	15	7058											
RBPMS	0	.	GRCh38	chr8	30479334	30479334	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctgtaggttttgtcagttTtgacagtcgctcagaagcag	8	13	12	8	1	2	2	2	1	0	1	3	2	2	2	1	1	1	5	1	1	2	5	novel		C3L-00510_TP	C3L-00510_NB	T	T																c.203T>C	p.Phe68Ser	p.F68S	ENST00000339877	4/7	160	98	62	155	155	0	strelka-varscan	RBPMS,missense_variant,p.Phe68Ser,ENST00000320203,NM_006867.3;RBPMS,missense_variant,p.Phe68Ser,ENST00000287771,NM_001008711.2;RBPMS,missense_variant,p.Phe68Ser,ENST00000397323,NM_001008710.2;RBPMS,missense_variant,p.Phe68Ser,ENST00000339877,NM_001008712.2;RBPMS,missense_variant,p.Phe68Ser,ENST00000517860,;RBPMS,5_prime_UTR_variant,,ENST00000520191,;RBPMS,5_prime_UTR_variant,,ENST00000520161,;RBPMS,5_prime_UTR_variant,,ENST00000519647,;RBPMS,5_prime_UTR_variant,,ENST00000523115,;RBPMS,non_coding_transcript_exon_variant,,ENST00000523717,;RBPMS,non_coding_transcript_exon_variant,,ENST00000522708,;RBPMS,downstream_gene_variant,,ENST00000521816,;RBPMS,missense_variant,p.Phe44Ser,ENST00000519359,;RBPMS,missense_variant,p.Phe2Ser,ENST00000522694,;	C	ENST00000339877	Transcript	missense_variant	785/1341	203/660	68/219	F/S	tTt/tCt		1		1	RBPMS	HGNC	HGNC:19097	protein_coding	YES	CCDS34876.1	ENSP00000340176	Q93062		UPI000002B229	NM_001008712.2	deleterious(0)		4/7		PROSITE_profiles:PS50102,hmmpanther:PTHR10501,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	18	30479334	30479334	T	C	1	0	0	0	0	1	0	0	0	13331	1841	64	5		5	RBPMS	8	30479334	Missense_Mutation	SNP	T	C3L-00510_TP		30479334	114659302	16	7059											
SVEP1	0	.	GRCh38	chr9	110465886	110465886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacatgcagaaatgttcaCggctcctcttttcacagttg	9	13	7	12	1	3	1	2	0	1	1	5	1	5	1	2	1	1	4	2	1	1	4	rs773002647		C3L-00510_TP	C3L-00510_NB	C	C																c.3301G>T	p.Val1101Leu	p.V1101L	ENST00000374469	18/48	91	74	17	141	140	1	strelka-varscan-mutect	SVEP1,missense_variant,p.Val1101Leu,ENST00000401783,;SVEP1,missense_variant,p.Val1101Leu,ENST00000374469,NM_153366.3;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;	A	ENST00000374469	Transcript	missense_variant	3496/12194	3301/10716	1101/3571	V/L	Gtg/Ttg	rs773002647,COSM3413246,COSM3413247	1		-1	SVEP1	HGNC	HGNC:15985	protein_coding	YES	CCDS48004.1	ENSP00000363593	Q4LDE5		UPI000153DA74	NM_153366.3	tolerated(0.11)		18/48		Pfam_domain:PF07699,SMART_domains:SM01411,Superfamily_domains:SSF57184											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs773002647	.												A	3	1	18	110465886	110465886	C	A	1	0	0	0	0	1	0	0	0	15805	536	19	1		1	SVEP1	9	110465886	Missense_Mutation	SNP	C	C3L-00510_TP		110465886	27928831	17	7060											
ARHGAP21	0	.	GRCh38	chr10	24592003	24592003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacactattgctaggtttcTtggttccatctgaaagaaag	13	13	8	7	0	2	2	0	1	2	1	3	2	3	2	1	2	2	3	1	2	5	6	novel		C3L-00510_TP	C3L-00510_NB	T	T																c.3886A>G	p.Arg1296Gly	p.R1296G	ENST00000396432	22/26	30	25	5	58	57	1	varscan-mutect	ARHGAP21,missense_variant,p.Arg1296Gly,ENST00000396432,NM_020824.3;ARHGAP21,missense_variant,p.Arg744Gly,ENST00000612832,;ARHGAP21,missense_variant,p.Arg745Gly,ENST00000320481,;ARHGAP21,missense_variant,p.Arg1083Gly,ENST00000636789,;ARHGAP21,missense_variant,p.Arg110Gly,ENST00000418033,;ARHGAP21,downstream_gene_variant,,ENST00000446003,;ARHGAP21,downstream_gene_variant,,ENST00000376410,;ARHGAP21,downstream_gene_variant,,ENST00000418325,;ARHGAP21,missense_variant,p.Arg389Gly,ENST00000638156,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000486374,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000482792,;ARHGAP21,upstream_gene_variant,,ENST00000477190,;	C	ENST00000396432	Transcript	missense_variant	4373/7167	3886/5877	1296/1958	R/G	Aga/Gga		1		-1	ARHGAP21	HGNC	HGNC:23725	protein_coding	YES	CCDS7144.2	ENSP00000379709	Q5T5U3		UPI0001639C78	NM_020824.3	deleterious(0)		22/26		PROSITE_profiles:PS50238,hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	18	24592003	24592003	T	C	1	0	0	0	0	1	0	0	0	995	1617	56	5		5	ARHGAP21	10	24592003	Missense_Mutation	SNP	T	C3L-00510_TP		24592003	109205419	18	7061											
XPNPEP1	0	.	GRCh38	chr10	109882639	109882639	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcggtcaccatcaatgaaGagcctgcagatggaggagag	13	6	14	8	1	2	4	2	1	0	3	2	6	2	5	2	3	3	1	2	3	2	0	novel		C3L-00510_TP	C3L-00510_NB	G	G																c.834C>G	p.=	p.L278L	ENST00000502935	10/21	87	81	6	160	160	0	strelka-varscan-mutect	XPNPEP1,synonymous_variant,p.=,ENST00000502935,NM_001324132.1,NM_020383.3;XPNPEP1,synonymous_variant,p.=,ENST00000322238,NM_001167604.1;XPNPEP1,synonymous_variant,p.=,ENST00000369683,NM_001324128.1;XPNPEP1,synonymous_variant,p.=,ENST00000403138,;XPNPEP1,synonymous_variant,p.=,ENST00000423625,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000430337,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000460523,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000443078,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000507328,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000508059,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000509646,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000512582,;XPNPEP1,downstream_gene_variant,,ENST00000506777,;XPNPEP1,downstream_gene_variant,,ENST00000490740,;XPNPEP1,upstream_gene_variant,,ENST00000494564,;XPNPEP1,upstream_gene_variant,,ENST00000510988,;XPNPEP1,downstream_gene_variant,,ENST00000451592,;XPNPEP1,downstream_gene_variant,,ENST00000505255,;XPNPEP1,upstream_gene_variant,,ENST00000460055,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000488118,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000513817,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000472336,;XPNPEP1,upstream_gene_variant,,ENST00000508525,;	C	ENST00000502935	Transcript	synonymous_variant	954/2539	834/2001	278/666	L	ctC/ctG		1		-1	XPNPEP1	HGNC	HGNC:12822	protein_coding	YES	CCDS7560.2	ENSP00000421566	Q9NQW7		UPI00003D2EAD	NM_001324132.1,NM_020383.3			10/21		Pfam_domain:PF16189,Gene3D:3.40.350.10																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	18	109882639	109882639	G	C	1	0	0	0	0	0	0	0	1	18001	956	33	4		4	XPNPEP1	10	109882639	Silent	SNP	G	C3L-00510_TP	85290636	109882639	23914783	19	7062											
OR52E2	0	.	GRCh38	chr11	5059332	5059332	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaaacatctgggtgaggCaggcttcaaagatgatccct	14	9	10	8	0	2	3	1	2	1	1	3	3	3	3	1	3	1	2	1	3	4	2			C3L-00510_TP	C3L-00510_NB	C	C																c.296G>T	p.Cys99Phe	p.C99F	ENST00000321522	1/1	114	75	39	139	139	0	strelka-varscan-mutect	OR52E2,missense_variant,p.Cys99Phe,ENST00000321522,NM_001005164.2;	A	ENST00000321522	Transcript	missense_variant	296/978	296/978	99/325	C/F	tGc/tTc	COSM5613378	1		-1	OR52E2	HGNC	HGNC:14769	protein_coding	YES	CCDS31371.1	ENSP00000322088	Q8NGJ4		UPI0000046AE3	NM_001005164.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF169,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		rs1421411535	.												A	3	1	18	5059332	5059332	C	A	1	0	0	0	0	1	0	0	0	11187	710	25	2		2	OR52E2	11	5059332	Missense_Mutation	SNP	C	C3L-00510_TP		5059332	130027290	20	7063											
ETS1	0	.	GRCh38	chr11	128489411	128489411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatacagaacttctggaaGtctacacctttcaggctgaa	12	12	7	10	0	4	2	2	1	2	1	4	3	4	3	1	2	3	1	1	2	5	5	novel		C3L-00510_TP	C3L-00510_NB	G	G																c.414C>T	p.=	p.D138D	ENST00000392668	5/10	267	159	108	424	424	0	strelka-varscan-mutect	ETS1,synonymous_variant,p.=,ENST00000392668,NM_001143820.1;ETS1,synonymous_variant,p.=,ENST00000526145,;ETS1,synonymous_variant,p.=,ENST00000319397,NM_005238.3;ETS1,synonymous_variant,p.=,ENST00000531611,;ETS1,intron_variant,,ENST00000535549,NM_001162422.1;ETS1,downstream_gene_variant,,ENST00000608978,;	A	ENST00000392668	Transcript	synonymous_variant	499/5139	414/1458	138/485	D	gaC/gaT		1		-1	ETS1	HGNC	HGNC:3488	protein_coding	YES	CCDS44767.1	ENSP00000376436	P14921		UPI00001BDB62	NM_001143820.1			5/10		PROSITE_profiles:PS51433,hmmpanther:PTHR11849:SF209,hmmpanther:PTHR11849,PIRSF_domain:PIRSF001698,Pfam_domain:PF02198,Gene3D:1.10.150.50,SMART_domains:SM00251,Superfamily_domains:SSF47769																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	18	128489411	128489411	G	A	1	0	0	0	0	0	0	0	1	5139	1020	36	3		3	ETS1	11	128489411	Silent	SNP	G	C3L-00510_TP	123430079	128489411	6597211	21	7064											
CACNA1C	0	.	GRCh38	chr12	2666737	2666737	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccggcggattcagccGccactaggttttgggaagct	6	10	12	13	3	1	0	1	0	0	0	3	2	3	2	4	4	2	2	4	4	2	4	rs376555924		C3L-00510_TP	C3L-00510_NB	G	G																c.4722G>A	p.=	p.P1574P	ENST00000347598	39/49	158	93	65	240	240	0	strelka-varscan-mutect	CACNA1C,synonymous_variant,p.=,ENST00000399655,NM_000719.6;CACNA1C,synonymous_variant,p.=,ENST00000399634,NM_001167625.1;CACNA1C,synonymous_variant,p.=,ENST00000406454,;CACNA1C,synonymous_variant,p.=,ENST00000399617,NM_001167624.2;CACNA1C,synonymous_variant,p.=,ENST00000399603,NM_001167623.1;CACNA1C,synonymous_variant,p.=,ENST00000335762,;CACNA1C,synonymous_variant,p.=,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,synonymous_variant,p.=,ENST00000344100,NM_001129829.1;CACNA1C,synonymous_variant,p.=,ENST00000327702,NM_001129830.2;CACNA1C,synonymous_variant,p.=,ENST00000399638,NM_001129831.1;CACNA1C,synonymous_variant,p.=,ENST00000399606,NM_001129832.1;CACNA1C,synonymous_variant,p.=,ENST00000399621,NM_001129834.1;CACNA1C,synonymous_variant,p.=,ENST00000399637,NM_001129835.1;CACNA1C,synonymous_variant,p.=,ENST00000402845,NM_001129833.1;CACNA1C,synonymous_variant,p.=,ENST00000399629,NM_001129836.1;CACNA1C,synonymous_variant,p.=,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,synonymous_variant,p.=,ENST00000399595,NM_001129837.1;CACNA1C,synonymous_variant,p.=,ENST00000399649,NM_001129839.1;CACNA1C,synonymous_variant,p.=,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,synonymous_variant,p.=,ENST00000399601,NM_001129843.1;CACNA1C,synonymous_variant,p.=,ENST00000399641,NM_001129840.1;CACNA1C,synonymous_variant,p.=,ENST00000399644,NM_001129841.1;CACNA1C,synonymous_variant,p.=,ENST00000616390,;CACNA1C-AS2,downstream_gene_variant,,ENST00000545526,;CACNA1C,non_coding_transcript_exon_variant,,ENST00000465934,;	A	ENST00000347598	Transcript	synonymous_variant	4722/6655	4722/6561	1574/2186	P	ccG/ccA	rs376555924,COSM430967,COSM430968,COSM430969,COSM430970,COSM430971	1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3			39/49		Pfam_domain:PF16905,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188											0,1,1,1,1,1						LOW	1	SNV	1		0,1,1,1,1,1	1										PASS		rs376555924	.												A	2	1	18	2666737	2666737	G	A	1	0	0	0	0	0	0	0	1	2228	1074	38	1		1	CACNA1C	12	2666737	Silent	SNP	G	C3L-00510_TP		2666737	130608572	22	7065											
GAPDH	0	.	GRCh38	chr12	6537377	6537377	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacaactttggtatcgTggaaggactcatggtatgag	11	11	12	7	1	1	2	1	2	0	0	2	4	1	4	1	4	1	2	1	4	4	3	novel		C3L-00510_TP	C3L-00510_NB	T	T																c.512T>C	p.Val171Ala	p.V171A	ENST00000229239	7/9	253	78	175	169	169	0	strelka-varscan-mutect	GAPDH,missense_variant,p.Val171Ala,ENST00000229239,NM_002046.5;GAPDH,missense_variant,p.Val171Ala,ENST00000396861,NM_001289745.1;GAPDH,missense_variant,p.Val129Ala,ENST00000396858,NM_001256799.2;GAPDH,missense_variant,p.Val96Ala,ENST00000396856,;GAPDH,missense_variant,p.Val171Ala,ENST00000396859,NM_001289746.1;GAPDH,missense_variant,p.Val129Ala,ENST00000619601,;IFFO1,downstream_gene_variant,,ENST00000436152,;IFFO1,downstream_gene_variant,,ENST00000465801,;IFFO1,downstream_gene_variant,,ENST00000615885,;IFFO1,downstream_gene_variant,,ENST00000619571,NM_001193457.1;IFFO1,downstream_gene_variant,,ENST00000336604,NM_080730.4;IFFO1,downstream_gene_variant,,ENST00000356896,NM_001039670.2;IFFO1,downstream_gene_variant,,ENST00000396840,;RP5-940J5.3,upstream_gene_variant,,ENST00000537921,;RP5-940J5.9,downstream_gene_variant,,ENST00000602946,;GAPDH,non_coding_transcript_exon_variant,,ENST00000466525,;GAPDH,non_coding_transcript_exon_variant,,ENST00000466588,;GAPDH,non_coding_transcript_exon_variant,,ENST00000474249,;GAPDH,non_coding_transcript_exon_variant,,ENST00000492719,;IFFO1,downstream_gene_variant,,ENST00000488007,;IFFO1,downstream_gene_variant,,ENST00000471408,;IFFO1,downstream_gene_variant,,ENST00000487279,;IFFO1,downstream_gene_variant,,ENST00000472558,;IFFO1,downstream_gene_variant,,ENST00000396830,;GAPDH,downstream_gene_variant,,ENST00000496049,;	C	ENST00000229239	Transcript	missense_variant	1178/1875	512/1008	171/335	V/A	gTg/gCg		1		1	GAPDH	HGNC	HGNC:4141	protein_coding	YES	CCDS8549.1	ENSP00000229239	P04406	V9HVZ4	UPI000013C8ED	NM_002046.5	deleterious_low_confidence(0.03)		7/9		hmmpanther:PTHR10836,Pfam_domain:PF02800,Gene3D:3.30.360.10,PIRSF_domain:PIRSF000149,TIGRFAM_domain:TIGR01534,Superfamily_domains:SSF51735,Superfamily_domains:SSF55347																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	18	6537377	6537377	T	C	1	0	0	0	0	1	0	0	0	6104	1696	59	5		5	GAPDH	12	6537377	Missense_Mutation	SNP	T	C3L-00510_TP	3870640	6537377	126737932	23	7066			1	6		3	3	608	N	T_C_A	3.56364e-07
GAPDH	0	.	GRCh38	chr12	6537764	6537764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggcatggccttccgtgtcCccactgccaacgtgtcagtg	5	10	11	15	2	1	0	1	0	0	0	3	0	3	0	5	2	2	1	5	2	1	1	novel		C3L-00510_TP	C3L-00510_NB	C	C																c.706C>T	p.Pro236Ser	p.P236S	ENST00000229239	8/9	235	133	102	277	277	0	strelka-varscan-mutect	GAPDH,missense_variant,p.Pro236Ser,ENST00000229239,NM_002046.5;GAPDH,missense_variant,p.Pro236Ser,ENST00000396861,NM_001289745.1;GAPDH,missense_variant,p.Pro194Ser,ENST00000396858,NM_001256799.2;GAPDH,missense_variant,p.Pro161Ser,ENST00000396856,;GAPDH,missense_variant,p.Pro236Ser,ENST00000396859,NM_001289746.1;GAPDH,missense_variant,p.Pro194Ser,ENST00000619601,;IFFO1,downstream_gene_variant,,ENST00000436152,;IFFO1,downstream_gene_variant,,ENST00000465801,;IFFO1,downstream_gene_variant,,ENST00000615885,;IFFO1,downstream_gene_variant,,ENST00000619571,NM_001193457.1;IFFO1,downstream_gene_variant,,ENST00000336604,NM_080730.4;IFFO1,downstream_gene_variant,,ENST00000356896,NM_001039670.2;IFFO1,downstream_gene_variant,,ENST00000396840,;RP5-940J5.3,upstream_gene_variant,,ENST00000537921,;RP5-940J5.9,downstream_gene_variant,,ENST00000602946,;GAPDH,non_coding_transcript_exon_variant,,ENST00000466525,;GAPDH,non_coding_transcript_exon_variant,,ENST00000466588,;GAPDH,non_coding_transcript_exon_variant,,ENST00000474249,;GAPDH,non_coding_transcript_exon_variant,,ENST00000492719,;IFFO1,downstream_gene_variant,,ENST00000488007,;IFFO1,downstream_gene_variant,,ENST00000471408,;IFFO1,downstream_gene_variant,,ENST00000487279,;IFFO1,downstream_gene_variant,,ENST00000472558,;IFFO1,downstream_gene_variant,,ENST00000396830,;GAPDH,downstream_gene_variant,,ENST00000496049,;	T	ENST00000229239	Transcript	missense_variant	1372/1875	706/1008	236/335	P/S	Ccc/Tcc		1		1	GAPDH	HGNC	HGNC:4141	protein_coding	YES	CCDS8549.1	ENSP00000229239	P04406	V9HVZ4	UPI000013C8ED	NM_002046.5	deleterious_low_confidence(0.04)		8/9		hmmpanther:PTHR10836,Pfam_domain:PF02800,Gene3D:3.30.360.10,PIRSF_domain:PIRSF000149,TIGRFAM_domain:TIGR01534,Superfamily_domains:SSF55347,Prints_domain:PR00078																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	18	6537764	6537764	C	T	1	0	0	0	0	1	0	0	0	6104	623	22	3		3	GAPDH	12	6537764	Missense_Mutation	SNP	C	C3L-00510_TP	387	6537764	126737545	24	7067			1	6		3	3	608	N	T_C_A	3.56364e-07
GAPDH	0	.	GRCh38	chr12	6537984	6537984	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcaacgaccactttgtcaAgctcatttcctggtatgtgg	8	13	8	12	1	3	0	3	0	0	0	4	1	4	0	3	2	2	2	3	2	3	3	novel		C3L-00510_TP	C3L-00510_NB	A	A																c.926A>C	p.Lys309Thr	p.K309T	ENST00000229239	8/9	81	43	38	121	121	0	strelka-varscan-mutect	GAPDH,missense_variant,p.Lys309Thr,ENST00000229239,NM_002046.5;GAPDH,missense_variant,p.Lys309Thr,ENST00000396861,NM_001289745.1;GAPDH,missense_variant,p.Lys267Thr,ENST00000396858,NM_001256799.2;GAPDH,missense_variant,p.Lys234Thr,ENST00000396856,;GAPDH,missense_variant,p.Lys309Thr,ENST00000396859,NM_001289746.1;GAPDH,missense_variant,p.Lys267Thr,ENST00000619601,;IFFO1,downstream_gene_variant,,ENST00000436152,;IFFO1,downstream_gene_variant,,ENST00000465801,;IFFO1,downstream_gene_variant,,ENST00000615885,;IFFO1,downstream_gene_variant,,ENST00000619571,NM_001193457.1;IFFO1,downstream_gene_variant,,ENST00000336604,NM_080730.4;IFFO1,downstream_gene_variant,,ENST00000356896,NM_001039670.2;IFFO1,downstream_gene_variant,,ENST00000396840,;RP5-940J5.9,splice_region_variant,,ENST00000602946,;RP5-940J5.3,upstream_gene_variant,,ENST00000537921,;GAPDH,non_coding_transcript_exon_variant,,ENST00000466525,;GAPDH,non_coding_transcript_exon_variant,,ENST00000466588,;GAPDH,non_coding_transcript_exon_variant,,ENST00000474249,;IFFO1,downstream_gene_variant,,ENST00000488007,;IFFO1,downstream_gene_variant,,ENST00000471408,;IFFO1,downstream_gene_variant,,ENST00000487279,;IFFO1,downstream_gene_variant,,ENST00000472558,;IFFO1,downstream_gene_variant,,ENST00000396830,;GAPDH,downstream_gene_variant,,ENST00000492719,;GAPDH,downstream_gene_variant,,ENST00000496049,;	C	ENST00000229239	Transcript	missense_variant	1592/1875	926/1008	309/335	K/T	aAg/aCg		1		1	GAPDH	HGNC	HGNC:4141	protein_coding	YES	CCDS8549.1	ENSP00000229239	P04406	V9HVZ4	UPI000013C8ED	NM_002046.5	deleterious_low_confidence(0)		8/9		hmmpanther:PTHR10836,Pfam_domain:PF02800,Gene3D:3.30.360.10,PIRSF_domain:PIRSF000149,TIGRFAM_domain:TIGR01534,Superfamily_domains:SSF55347																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	18	6537984	6537984	A	C	1	0	0	0	0	1	0	0	0	6104	72	3	5		5	GAPDH	12	6537984	Missense_Mutation	SNP	A	C3L-00510_TP	220	6537984	126737325	25	7068			1	6		3	3	608	N	T_C_A	3.56364e-07
ACVR1B	0	.	GRCh38	chr12	51975443	51975450	+	Frame_Shift_Del	DEL	GCGCAACA	GCGCAACA	-																															tgcctgagctcggaggacctGcgcaacacccactgctgcta																								novel		C3L-00510_TP	C3L-00510_NB	GCGCAACA	GCGCAACA																c.270_277delGCGCAACA	p.Arg91ProfsTer6	p.R91Pfs*6	ENST00000541224	2/10	192	129	63	355	355	0	sindel-pindel	ACVR1B,frameshift_variant,p.Arg91ProfsTer6,ENST00000257963,NM_004302.4;ACVR1B,frameshift_variant,p.Arg39ProfsTer6,ENST00000542485,NM_020327.3;ACVR1B,frameshift_variant,p.Arg91ProfsTer6,ENST00000541224,NM_020328.3;ACVR1B,frameshift_variant,p.Arg91ProfsTer6,ENST00000426655,;ACVR1B,frameshift_variant,p.Arg91ProfsTer6,ENST00000415850,;ACVR1B,frameshift_variant,p.Arg39ProfsTer6,ENST00000536420,;	-	ENST00000541224	Transcript	frameshift_variant	313-320/1791	270-277/1641	90-93/546	LRNT/LX	ctGCGCAACAcc/ctcc		1		1	ACVR1B	HGNC	HGNC:172	protein_coding	YES	CCDS44894.2	ENSP00000442656	P36896		UPI0001915052	NM_020328.3			2/10		Gene3D:2.10.60.10,Pfam_domain:PF01064,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF22,Superfamily_domains:SSF57302																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	18	51975443	51975443	GCGCAACA	-	1	0	1	0	1	0	0	0	0	265	1306	46	0		0	ACVR1B	12	51975443	Frame_Shift_Del	DEL	GCGCAACA	C3L-00510_TP	45437459	51975443	81299866	26	7069											
DUSP6	0	.	GRCh38	chr12	89349255	89349255	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggggtgtggggtctttCacgtagattgcagagagtcc	8	10	17	6	1	2	2	1	0	1	2	3	4	3	3	1	5	1	2	1	5	1	3			C3L-00510_TP	C3L-00510_NB	C	C																c.1145G>T	p.Ter382LeuextTer36	p.*382Lext*36	ENST00000279488	3/3	39	21	18	61	61	0	strelka-varscan-mutect	DUSP6,stop_lost,p.Ter382LeuextTer36,ENST00000279488,NM_001946.3;DUSP6,stop_lost,p.Ter236LeuextTer36,ENST00000308385,NM_022652.3;DUSP6,stop_lost,p.Ter257LeuextTer36,ENST00000547291,;DUSP6,downstream_gene_variant,,ENST00000548755,;RP11-823E8.3,upstream_gene_variant,,ENST00000611513,;DUSP6,downstream_gene_variant,,ENST00000547140,;	A	ENST00000279488	Transcript	stop_lost	2377/4400	1145/1146	382/381	*/L	tGa/tTa	COSM4937920	1		-1	DUSP6	HGNC	HGNC:3072	protein_coding	YES	CCDS9033.1	ENSP00000279488	Q16828	A0A024RBC1	UPI000013ED2F	NM_001946.3			3/3													1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	18	89349255	89349255	C	A	1	0	0	0	0	0	0	0	0	4651	837	29	2		2	DUSP6	12	89349255	Nonstop_Mutation	SNP	C	C3L-00510_TP	37373812	89349255	43926054	27	7070											
GALNT9	0	.	GRCh38	chr12	132201204	132201206	+	In_Frame_Del	DEL	TCA	TCA	-																															ccacttgaagctgcgacactTcagcctctgacgcagggcca																								novel		C3L-00510_TP	C3L-00510_NB	TCA	TCA																c.221_223delTGA	p.Leu74_Lys75delinsGln	p.L74_K75delinsQ	ENST00000397325	4/7	159	121	38	265	265	0	sindel-varindel-pindel	GALNT9,inframe_deletion,p.Leu440_Lys441delinsGln,ENST00000328957,;GALNT9,inframe_deletion,p.Leu74_Lys75delinsGln,ENST00000397325,NM_021808.3;GALNT9,inframe_deletion,p.Leu213_Lys214delinsGln,ENST00000411988,;GALNT9,inframe_deletion,p.Leu74_Lys75delinsGln,ENST00000541995,NM_001122636.1;GALNT9,inframe_deletion,p.Leu74_Lys75delinsGln,ENST00000538356,;GALNT9,downstream_gene_variant,,ENST00000542942,;RP13-977J11.3,non_coding_transcript_exon_variant,,ENST00000623965,;	-	ENST00000397325	Transcript	inframe_deletion	499-501/1727	221-223/714	74-75/237	LK/Q	cTGAag/cag		1		-1	GALNT9	HGNC	HGNC:4131	protein_coding	YES	CCDS41866.1	ENSP00000380488	Q9HCQ5		UPI000006CCBE	NM_021808.3			4/7		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF28,Superfamily_domains:SSF53448																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	18	132201204	132201204	TCA	-	1	0	1	0	1	0	0	0	0	6091	1792	62	0		0	GALNT9	12	132201204	In_Frame_Del	DEL	TCA	C3L-00510_TP	42851949	132201204	1074105	28	7071											
HECTD1	0	.	GRCh38	chr14	31134983	31134983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagaccttccataaccaCgagcatgacgaagtgtatat	13	9	9	10	2	0	2	0	1	0	1	1	4	1	2	3	0	3	3	3	0	4	4	novel		C3L-00510_TP	C3L-00510_NB	C	C																c.3467G>A	p.Arg1156His	p.R1156H	ENST00000399332	22/43	254	169	85	314	313	1	strelka-mutect	HECTD1,missense_variant,p.Arg1156His,ENST00000399332,NM_015382.3;HECTD1,missense_variant,p.Arg1156His,ENST00000553700,;HECTD1,missense_variant,p.Arg1160His,ENST00000611816,;HECTD1,missense_variant,p.Arg630His,ENST00000553957,;HECTD1,upstream_gene_variant,,ENST00000557369,;HECTD1,downstream_gene_variant,,ENST00000554850,;	T	ENST00000399332	Transcript	missense_variant	3956/9134	3467/7833	1156/2610	R/H	cGt/cAt		1		-1	HECTD1	HGNC	HGNC:20157	protein_coding	YES	CCDS41939.1	ENSP00000382269	Q9ULT8		UPI0000D9BBA1	NM_015382.3	deleterious(0)		22/43		Gene3D:2.60.120.260,Pfam_domain:PF07738,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF322,Superfamily_domains:SSF49785																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	18	31134983	31134983	C	T	1	0	0	0	0	1	0	0	0	6920	536	19	1		1	HECTD1	14	31134983	Missense_Mutation	SNP	C	C3L-00510_TP		31134983	75908735	29	7072											
TLE3	0	.	GRCh38	chr15	70054585	70054585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgatgcggggcgtgggcGaggccaggtcccagatggtg	5	7	19	10	3	0	2	0	1	0	1	1	3	1	2	3	6	1	0	3	6	0	1			C3L-00510_TP	C3L-00510_NB	G	G																c.1688C>T	p.Ser563Leu	p.S563L	ENST00000558939	16/20	50	45	5	155	155	0	strelka-varscan-mutect	TLE3,missense_variant,p.Ser563Leu,ENST00000558939,NM_005078.3;TLE3,missense_variant,p.Ser563Leu,ENST00000627388,;TLE3,missense_variant,p.Ser551Leu,ENST00000317509,NM_020908.2;TLE3,missense_variant,p.Ser555Leu,ENST00000557997,NM_001282979.1;TLE3,missense_variant,p.Ser507Leu,ENST00000560589,;TLE3,missense_variant,p.Ser573Leu,ENST00000559929,;TLE3,missense_variant,p.Ser565Leu,ENST00000560939,;TLE3,missense_variant,p.Ser563Leu,ENST00000559048,;TLE3,missense_variant,p.Ser569Leu,ENST00000558201,;TLE3,missense_variant,p.Ser553Leu,ENST00000440567,NM_001282981.1;TLE3,missense_variant,p.Ser490Leu,ENST00000539550,NM_001282982.1;TLE3,missense_variant,p.Ser560Leu,ENST00000451782,NM_001105192.2;TLE3,missense_variant,p.Ser558Leu,ENST00000558379,NM_001282980.1;TLE3,missense_variant,p.Ser555Leu,ENST00000557907,;TLE3,missense_variant,p.Ser144Leu,ENST00000559191,;TLE3,3_prime_UTR_variant,,ENST00000557919,;TLE3,3_prime_UTR_variant,,ENST00000561453,;TLE3,3_prime_UTR_variant,,ENST00000560525,;TLE3,non_coding_transcript_exon_variant,,ENST00000557815,;TLE3,non_coding_transcript_exon_variant,,ENST00000542329,;TLE3,upstream_gene_variant,,ENST00000559608,;TLE3,downstream_gene_variant,,ENST00000559826,;	A	ENST00000558939	Transcript	missense_variant	3066/6004	1688/2319	563/772	S/L	tCg/tTg	COSM416842,COSM4812727	1		-1	TLE3	HGNC	HGNC:11839	protein_coding	YES	CCDS45293.1	ENSP00000452871	Q04726		UPI000013703A	NM_005078.3	deleterious(0)		16/20		PROSITE_profiles:PS50294,hmmpanther:PTHR10814,Gene3D:2.130.10.10,Superfamily_domains:SSF50978											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1350882604	.												A	3	1	18	70054585	70054585	G	A	1	0	0	0	0	1	0	0	0	16386	1059	37	1		1	TLE3	15	70054585	Missense_Mutation	SNP	G	C3L-00510_TP		70054585	31936604	30	7073											
LOXL1	0	.	GRCh38	chr15	73946505	73946505	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaccagggcacagcagacTtcctccccaaccggccacgg	11	3	10	17	2	0	2	0	0	0	2	2	2	2	2	6	3	3	2	6	3	2	1	novel		C3L-00510_TP	C3L-00510_NB	T	T																c.1300T>C	p.Phe434Leu	p.F434L	ENST00000261921	3/7	124	30	94	304	304	0	strelka-varscan-mutect	LOXL1,missense_variant,p.Phe434Leu,ENST00000261921,NM_005576.2;LOXL1,upstream_gene_variant,,ENST00000567675,;LOXL1,3_prime_UTR_variant,,ENST00000566011,;LOXL1,non_coding_transcript_exon_variant,,ENST00000566530,;LOXL1,upstream_gene_variant,,ENST00000562548,;	C	ENST00000261921	Transcript	missense_variant	1626/2351	1300/1725	434/574	F/L	Ttc/Ctc		1		1	LOXL1	HGNC	HGNC:6665	protein_coding	YES	CCDS10253.1	ENSP00000261921	Q08397		UPI000013D224	NM_005576.2	deleterious(0)		3/7		hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF4,Pfam_domain:PF01186,Prints_domain:PR00074																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	18	73946505	73946505	T	C	1	0	0	0	0	1	0	0	0	8802	1609	56	5		5	LOXL1	15	73946505	Missense_Mutation	SNP	T	C3L-00510_TP	3891920	73946505	28044684	31	7074											
MSRB1	0	.	GRCh38	chr16	1940962	1940962	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagtgaaggcccttactggGgctggcagatggtgtttctt	7	12	14	8	0	1	2	0	1	1	1	1	2	1	2	1	5	1	3	1	5	2	3	novel		C3L-00510_TP	C3L-00510_NB	G	G																c.499C>G	p.Pro167Ala	p.P167A	ENST00000399753	2/3	263	148	115	373	373	0	strelka-varscan-mutect	MSRB1,missense_variant,p.Pro167Ala,ENST00000399753,;MSRB1,intron_variant,,ENST00000361871,NM_016332.2;MSRB1,intron_variant,,ENST00000622125,;MSRB1,intron_variant,,ENST00000564908,;MSRB1,intron_variant,,ENST00000473663,;RPL3L,downstream_gene_variant,,ENST00000268661,NM_005061.2;MSRB1,downstream_gene_variant,,ENST00000489198,;	C	ENST00000399753	Transcript	missense_variant	538/847	499/681	167/226	P/A	Ccc/Gcc		1		-1	MSRB1	HGNC	HGNC:14133	protein_coding			ENSP00000382657		A8MYR2	UPI0000E59D5E				2/3																			MODERATE		SNV	3			1										PASS		.	.												C	3	2	18	1940962	1940962	G	C	1	0	0	0	0	1	0	0	0	9871	1232	43	4		4	MSRB1	16	1940962	Missense_Mutation	SNP	G	C3L-00510_TP		1940962	88397383	32	7075											
ABCC6	0	.	GRCh38	chr16	16165823	16165823	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaatgggtgtccgctcaaAgaagctgatgggagatcgca	12	7	13	9	2	1	3	1	1	0	2	3	4	2	3	2	2	1	3	2	2	3	0	rs761996195		C3L-00510_TP	C3L-00510_NB	A	A																c.3106T>A	p.Phe1036Ile	p.F1036I	ENST00000205557	23/31	354	231	123	497	497	0	strelka-varscan-mutect	ABCC6,missense_variant,p.Phe1036Ile,ENST00000205557,NM_001171.5;ABCC6,3_prime_UTR_variant,,ENST00000622290,;ABCC6,3_prime_UTR_variant,,ENST00000456970,;	T	ENST00000205557	Transcript	missense_variant	3136/5747	3106/4512	1036/1503	F/I	Ttt/Att	rs761996195	1		-1	ABCC6	HGNC	HGNC:57	protein_coding	YES	CCDS10568.1	ENSP00000205557	O95255		UPI00001AE5CA	NM_001171.5	deleterious(0)		23/31		PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF226,hmmpanther:PTHR24223,TIGRFAM_domain:TIGR00957,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123																	MODERATE	1	SNV	1			1										PASS		rs761996195	.												T	3	4	18	16165823	16165823	A	T	1	0	0	0	0	1	0	0	0	61	72	3	4		4	ABCC6	16	16165823	Missense_Mutation	SNP	A	C3L-00510_TP	14224861	16165823	74172522	33	7076											
DRC7	0	.	GRCh38	chr16	57727332	57727332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaagcttcgagaggaagagGaggcggcgcacacactgacc	12	4	15	10	3	0	4	0	2	0	2	1	7	0	6	1	4	1	2	1	4	2	1			C3L-00510_TP	C3L-00510_NB	G	G																c.2119G>A	p.Glu707Lys	p.E707K	ENST00000360716	16/19	245	231	14	327	327	0	strelka-mutect	DRC7,missense_variant,p.Glu707Lys,ENST00000360716,NM_001289162.1;DRC7,missense_variant,p.Glu707Lys,ENST00000394337,NM_032269.5;DRC7,missense_variant,p.Glu642Lys,ENST00000336825,NM_001289163.1;DRC7,missense_variant,p.Glu260Lys,ENST00000562250,;DRC7,non_coding_transcript_exon_variant,,ENST00000565609,;	A	ENST00000360716	Transcript	missense_variant	2340/3041	2119/2625	707/874	E/K	Gag/Aag	COSM1709227	1		1	DRC7	HGNC	HGNC:25289	protein_coding	YES	CCDS10787.1	ENSP00000353942	Q8IY82		UPI00001AEB68	NM_001289162.1	deleterious(0)		16/19		hmmpanther:PTHR35249,hmmpanther:PTHR35249:SF1											1						MODERATE	1	SNV	1		1	1										PASS		rs1267268672	.												A	3	1	18	57727332	57727332	G	A	1	0	0	0	0	1	0	0	0	4574	1175	41	3		3	DRC7	16	57727332	Missense_Mutation	SNP	G	C3L-00510_TP	41561509	57727332	32611013	34	7077											
ACADVL	0	.	GRCh38	chr17	7224165	7224165	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacaaaggaaaggagctctCtgggcttggcagtgctctaa	11	8	14	8	0	2	0	0	0	2	0	3	3	2	3	0	5	2	4	0	5	3	2	novel		C3L-00510_TP	C3L-00510_NB	C	C																c.1523C>G	p.Ser508Cys	p.S508C	ENST00000543245	16/21	316	294	22	743	743	0	strelka-varscan-mutect	ACADVL,missense_variant,p.Ser485Cys,ENST00000356839,NM_000018.3;ACADVL,missense_variant,p.Ser508Cys,ENST00000543245,NM_001270447.1;ACADVL,missense_variant,p.Ser463Cys,ENST00000350303,NM_001270448.1,NM_001033859.2;ACADVL,missense_variant,p.Ser105Cys,ENST00000542255,;ACADVL,intron_variant,,ENST00000579546,;DLG4,upstream_gene_variant,,ENST00000399510,NM_001321074.1,NM_001365.3;DVL2,downstream_gene_variant,,ENST00000005340,NM_004422.2;DVL2,downstream_gene_variant,,ENST00000575458,;DVL2,downstream_gene_variant,,ENST00000575756,;DVL2,downstream_gene_variant,,ENST00000574143,;DVL2,downstream_gene_variant,,ENST00000575086,;ACADVL,downstream_gene_variant,,ENST00000583312,;ACADVL,downstream_gene_variant,,ENST00000584103,;ACADVL,downstream_gene_variant,,ENST00000579886,;MIR324,upstream_gene_variant,,ENST00000362183,;ACADVL,intron_variant,,ENST00000583074,;DVL2,downstream_gene_variant,,ENST00000574642,;ACADVL,downstream_gene_variant,,ENST00000581562,;ACADVL,downstream_gene_variant,,ENST00000577857,;ACADVL,3_prime_UTR_variant,,ENST00000322910,;ACADVL,non_coding_transcript_exon_variant,,ENST00000578711,;ACADVL,non_coding_transcript_exon_variant,,ENST00000579425,;ACADVL,non_coding_transcript_exon_variant,,ENST00000585203,;ACADVL,non_coding_transcript_exon_variant,,ENST00000583850,;ACADVL,non_coding_transcript_exon_variant,,ENST00000579894,;ACADVL,non_coding_transcript_exon_variant,,ENST00000579391,;ACADVL,intron_variant,,ENST00000583858,;ACADVL,downstream_gene_variant,,ENST00000577191,;DVL2,downstream_gene_variant,,ENST00000576840,;ACADVL,downstream_gene_variant,,ENST00000579286,;ACADVL,downstream_gene_variant,,ENST00000582379,;ACADVL,downstream_gene_variant,,ENST00000577433,;ACADVL,downstream_gene_variant,,ENST00000581378,;ACADVL,downstream_gene_variant,,ENST00000582056,;ACADVL,downstream_gene_variant,,ENST00000578269,;ACADVL,downstream_gene_variant,,ENST00000578824,;ACADVL,upstream_gene_variant,,ENST00000578319,;ACADVL,upstream_gene_variant,,ENST00000578809,;DVL2,downstream_gene_variant,,ENST00000576285,;ACADVL,downstream_gene_variant,,ENST00000582356,;DVL2,downstream_gene_variant,,ENST00000574591,;ACADVL,downstream_gene_variant,,ENST00000583760,;ACADVL,upstream_gene_variant,,ENST00000578033,;DVL2,downstream_gene_variant,,ENST00000571745,;ACADVL,downstream_gene_variant,,ENST00000582166,;ACADVL,downstream_gene_variant,,ENST00000578421,;ACADVL,downstream_gene_variant,,ENST00000580263,;DVL2,downstream_gene_variant,,ENST00000577154,;ACADVL,upstream_gene_variant,,ENST00000583848,;ACADVL,downstream_gene_variant,,ENST00000580365,;ACADVL,downstream_gene_variant,,ENST00000578579,;DVL2,downstream_gene_variant,,ENST00000573354,;ACADVL,upstream_gene_variant,,ENST00000582450,;	G	ENST00000543245	Transcript	missense_variant	1544/2227	1523/2037	508/678	S/C	tCt/tGt		1		1	ACADVL	HGNC	HGNC:92	protein_coding	YES	CCDS58509.1	ENSP00000438689	P49748		UPI0002064F84	NM_001270447.1	deleterious(0)		16/21		hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF292																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	18	7224165	7224165	C	G	1	0	0	0	0	1	0	0	0	159	913	32	4		4	ACADVL	17	7224165	Missense_Mutation	SNP	C	C3L-00510_TP		7224165	76033276	35	7078											
TP53	0	.	GRCh38	chr17	7675085	7675085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	7	6	13	15	3	2	0	2	0	0	0	4	0	3	0	3	3	4	3	3	3	1	0	rs786202962		C3L-00510_TP	C3L-00510_NB	C	C																c.527G>A	p.Cys176Tyr	p.C176Y	ENST00000269305	5/11	164	41	123	525	523	2	strelka-varscan-mutect	TP53,missense_variant,p.Cys176Tyr,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Cys176Tyr,ENST00000420246,;TP53,missense_variant,p.Cys137Tyr,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Cys137Tyr,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Cys176Tyr,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Cys137Tyr,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Cys176Tyr,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Cys137Tyr,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Cys176Tyr,ENST00000445888,;TP53,missense_variant,p.Cys137Tyr,ENST00000619485,;TP53,missense_variant,p.Cys44Tyr,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Cys17Tyr,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Cys44Tyr,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Cys17Tyr,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Cys44Tyr,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Cys17Tyr,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Cys176Tyr,ENST00000359597,;TP53,missense_variant,p.Cys165Tyr,ENST00000615910,;TP53,missense_variant,p.Cys176Tyr,ENST00000413465,;TP53,missense_variant,p.Cys44Tyr,ENST00000509690,;TP53,missense_variant,p.Cys83Tyr,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,missense_variant,p.Cys137Tyr,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	T	ENST00000269305	Transcript	missense_variant	717/2579	527/1182	176/393	C/Y	tGc/tAc	rs786202962,TP53_g.12515G>A,TP53_g.12515del,TP53_g.12515G>T,TP53_g.12515G>C,COSM10645,COSM10687,COSM117395,COSM117396,COSM117397,COSM117398,COSM1640850,COSM1649384,COSM3378352,COSM3388204,COSM44645,COSM99669,COSM99670,COSM99671,COSM99672	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		5/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										likely_pathogenic	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs786202962	.												T	3	4	18	7675085	7675085	C	T	1	0	0	0	0	1	0	0	0	16859	710	25	3		3	TP53	17	7675085	Missense_Mutation	SNP	C	C3L-00510_TP	450920	7675085	75582356	36	7079											
KRTAP3-2	0	.	GRCh38	chr17	40999815	40999815	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatggtggtggcaggcccAgtggggacactgcagctgcg	7	6	18	10	1	0	1	0	0	0	1	0	2	0	2	1	6	3	3	1	6	0	0	rs9890989		C3L-00510_TP	C3L-00510_NB	A	A																c.39T>C	p.=	p.T13T	ENST00000391587	1/1	199	189	10	276	275	1	varscan-mutect	KRTAP3-2,synonymous_variant,p.=,ENST00000391587,NM_031959.2;KRTAP3-4P,downstream_gene_variant,,ENST00000430780,;	G	ENST00000391587	Transcript	synonymous_variant	80/702	39/297	13/98	T	acT/acC	rs9890989	1		-1	KRTAP3-2	HGNC	HGNC:16779	protein_coding	YES	CCDS32644.1	ENSP00000375429	Q9BYR7		UPI0000073566	NM_031959.2			1/1		hmmpanther:PTHR23260:SF4,hmmpanther:PTHR23260,Pfam_domain:PF04579,PD010562																	LOW	1	SNV				1										PASS		rs9890989	.												G	2	3	18	40999815	40999815	A	G	1	0	0	0	0	0	0	0	1	8439	175	7	5		5	KRTAP3-2	17	40999815	Silent	SNP	A	C3L-00510_TP	33324730	40999815	42257626	37	7080											
CFAP53	0	.	GRCh38	chr18	50227540	50227540	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcttccttctctgcttcTtgggactgctgctggtaggc	2	17	10	12	0	3	0	0	0	3	0	6	1	4	1	1	3	3	4	1	3	1	6	novel		C3L-00510_TP	C3L-00510_NB	T	T																c.1386A>T	p.Gln462His	p.Q462H	ENST00000398545	8/8	304	264	40	417	416	1	strelka-varscan-mutect	CFAP53,missense_variant,p.Gln462His,ENST00000398545,NM_145020.3;	A	ENST00000398545	Transcript	missense_variant	1504/1851	1386/1545	462/514	Q/H	caA/caT		1		-1	CFAP53	HGNC	HGNC:26530	protein_coding	YES	CCDS11940.2	ENSP00000381553	Q96M91		UPI000014C50D	NM_145020.3	tolerated(0.16)		8/8		hmmpanther:PTHR31183,hmmpanther:PTHR31183:SF1,Pfam_domain:PF13868																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	18	50227540	50227540	T	A	1	0	0	0	0	1	0	0	0	3024	1606	56	4		4	CFAP53	18	50227540	Missense_Mutation	SNP	T	C3L-00510_TP		50227540	30145745	38	7081											
KEAP1	0	.	GRCh38	chr19	10491967	10491969	+	In_Frame_Del	DEL	TTG	TTG	-																															agggcatcacctgcgtgggcTtgtgcagggtgagctcctcg																								novel		C3L-00510_TP	C3L-00510_NB	TTG	TTG																c.933_935delCAA	p.His311_Lys312delinsGln	p.H311_K312delinsQ	ENST00000171111	3/6	143	53	90	374	374	0	sindel-varindel	KEAP1,inframe_deletion,p.His311_Lys312delinsGln,ENST00000171111,NM_203500.1;KEAP1,inframe_deletion,p.His311_Lys312delinsGln,ENST00000393623,NM_012289.3;KEAP1,upstream_gene_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000592055,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,non_coding_transcript_exon_variant,,ENST00000588024,;KEAP1,downstream_gene_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590593,;KEAP1,upstream_gene_variant,,ENST00000590237,;	-	ENST00000171111	Transcript	inframe_deletion	1481-1483/2955	933-935/1875	311-312/624	HK/Q	caCAAg/cag		1		-1	KEAP1	HGNC	HGNC:23177	protein_coding	YES	CCDS12239.1	ENSP00000171111	Q14145	A0A024R7C0	UPI000007139C	NM_203500.1			3/6		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,PIRSF_domain:PIRSF037037																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	18	10491967	10491967	TTG	-	1	0	1	0	1	0	0	0	0	8061	1609	56	0		0	KEAP1	19	10491967	In_Frame_Del	DEL	TTG	C3L-00510_TP		10491967	48125649	39	7082	162	2									
KEAP1	0	.	GRCh38	chr19	10491970	10491970	+	Missense_Mutation	SNP	T	T	A																															gcatcacctgcgtgggcttgTgcagggtgagctcctcgaag																										C3L-00510_TP	C3L-00510_NB	T	T																c.932A>T	p.His311Leu	p.H311L	ENST00000171111	3/6	161	58	103	369	369	0	strelka-varscan-mutect	KEAP1,missense_variant,p.His311Leu,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.His311Leu,ENST00000393623,NM_012289.3;KEAP1,upstream_gene_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000592055,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,non_coding_transcript_exon_variant,,ENST00000588024,;KEAP1,downstream_gene_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590593,;KEAP1,upstream_gene_variant,,ENST00000590237,;	A	ENST00000171111	Transcript	missense_variant	1480/2955	932/1875	311/624	H/L	cAc/cTc	COSM3959484,COSM4073866	1		-1	KEAP1	HGNC	HGNC:23177	protein_coding	YES	CCDS12239.1	ENSP00000171111	Q14145	A0A024R7C0	UPI000007139C	NM_203500.1	deleterious(0.01)		3/6		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,PIRSF_domain:PIRSF037037											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	18	10491970	10491970	T	A	1	0	0	0	0	1	0	0	0	8061	1696	59	4		4	KEAP1	19	10491970	Missense_Mutation	SNP	T	C3L-00510_TP	3	10491970	48125646	40	7083	162	2									
PRPF6	0	.	GRCh38	chr20	64026015	64026015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagtacgagcgggcccGgaggctgctggccaaggcgc	7	5	18	11	4	0	2	0	2	0	0	0	4	0	3	2	5	3	3	2	5	2	1	novel		C3L-00510_TP	C3L-00510_NB	G	G																c.1985G>A	p.Arg662Gln	p.R662Q	ENST00000266079	15/21	611	568	43	596	593	3	strelka-varscan-mutect	PRPF6,missense_variant,p.Arg662Gln,ENST00000266079,NM_012469.3;	A	ENST00000266079	Transcript	missense_variant	2096/3044	1985/2826	662/941	R/Q	cGg/cAg		1		1	PRPF6	HGNC	HGNC:15860	protein_coding	YES	CCDS13550.1	ENSP00000266079	O94906		UPI0000132356	NM_012469.3	deleterious(0.01)		15/21		Gene3D:1.25.40.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14559,PROSITE_profiles:PS50293,hmmpanther:PTHR11246,Low_complexity_(Seg):seg,SMART_domains:SM00386,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	18	64026015	64026015	G	A	1	0	0	0	0	1	0	0	0	12710	1116	39	1		1	PRPF6	20	64026015	Missense_Mutation	SNP	G	C3L-00510_TP		64026015	418152	41	7084											
TRMT2A	0	.	GRCh38	chr22	20116220	20116220	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgggccaggcgcacactGagtgggcggcctttccagag	6	5	17	13	3	0	2	0	1	0	1	1	2	1	2	4	5	0	1	4	5	0	1	novel		C3L-00510_TP	C3L-00510_NB	G	G																c.417C>T	p.=	p.L139L	ENST00000252136	2/12	99	30	69	245	245	0	strelka-varscan-mutect	TRMT2A,synonymous_variant,p.=,ENST00000252136,NM_022727.5,NM_182984.4;TRMT2A,synonymous_variant,p.=,ENST00000403707,;TRMT2A,synonymous_variant,p.=,ENST00000404751,NM_001257994.1;TRMT2A,synonymous_variant,p.=,ENST00000439169,;RANBP1,synonymous_variant,p.=,ENST00000430524,NM_001278639.1;RANBP1,synonymous_variant,p.=,ENST00000432879,;DGCR8,downstream_gene_variant,,ENST00000351989,NM_022720.6;DGCR8,downstream_gene_variant,,ENST00000383024,NM_001190326.1;DGCR8,downstream_gene_variant,,ENST00000407755,;RANBP1,upstream_gene_variant,,ENST00000402752,NM_001278640.1;RANBP1,upstream_gene_variant,,ENST00000418705,NM_001278641.1;RANBP1,upstream_gene_variant,,ENST00000331821,NM_002882.3;RANBP1,upstream_gene_variant,,ENST00000423859,;TRMT2A,upstream_gene_variant,,ENST00000444845,;RANBP1,upstream_gene_variant,,ENST00000416427,;RANBP1,upstream_gene_variant,,ENST00000411892,;TRMT2A,downstream_gene_variant,,ENST00000445045,;TRMT2A,upstream_gene_variant,,ENST00000444256,;RANBP1,upstream_gene_variant,,ENST00000421656,;MIR6816,upstream_gene_variant,,ENST00000620368,;AC006547.8,upstream_gene_variant,,ENST00000412713,;TRMT2A,upstream_gene_variant,,ENST00000492988,;RANBP1,upstream_gene_variant,,ENST00000467920,;TRMT2A,upstream_gene_variant,,ENST00000488335,;TRMT2A,upstream_gene_variant,,ENST00000480460,;RANBP1,synonymous_variant,p.=,ENST00000435265,;TRMT2A,non_coding_transcript_exon_variant,,ENST00000494641,;TRMT2A,non_coding_transcript_exon_variant,,ENST00000468917,;TRMT2A,non_coding_transcript_exon_variant,,ENST00000464535,;DGCR8,downstream_gene_variant,,ENST00000495826,;DGCR8,downstream_gene_variant,,ENST00000498171,;DGCR8,downstream_gene_variant,,ENST00000475941,;TRMT2A,upstream_gene_variant,,ENST00000494820,;TRMT2A,upstream_gene_variant,,ENST00000487668,;TRMT2A,upstream_gene_variant,,ENST00000471040,;TRMT2A,upstream_gene_variant,,ENST00000480339,;TRMT2A,upstream_gene_variant,,ENST00000463710,;RANBP1,upstream_gene_variant,,ENST00000488484,;TRMT2A,upstream_gene_variant,,ENST00000487378,;TRMT2A,upstream_gene_variant,,ENST00000459644,;	A	ENST00000252136	Transcript	synonymous_variant	806/2964	417/1878	139/625	L	ctC/ctT		1		-1	TRMT2A	HGNC	HGNC:24974	protein_coding	YES	CCDS13774.1	ENSP00000252136	Q8IZ69		UPI00001BBFC5	NM_022727.5,NM_182984.4			2/12		PROSITE_profiles:PS50102,hmmpanther:PTHR11061:SF24,hmmpanther:PTHR11061,Gene3D:3.30.70.330,Superfamily_domains:SSF54928																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	18	20116220	20116220	G	A	1	0	0	0	0	0	0	0	1	17069	1277	45	3		3	TRMT2A	22	20116220	Silent	SNP	G	C3L-00510_TP		20116220	30702248	42	7085											
FRMPD3	0	.	GRCh38	chrX	107601527	107601527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtctcgaggtcagagccCcagctgccaacctcgaggcc	8	5	11	17	2	2	1	1	0	1	1	4	3	2	1	6	2	4	1	6	2	1	0	rs759791679		C3L-00510_TP	C3L-00510_NB	C	C																c.3587C>A	p.Pro1196His	p.P1196H	ENST00000276185	16/16	195	128	67	246	246	0	strelka-varscan-mutect	FRMPD3,missense_variant,p.Pro1196His,ENST00000276185,NM_032428.1;FRMPD3,missense_variant,p.Pro1144His,ENST00000439554,;	A	ENST00000276185	Transcript	missense_variant	3587/7304	3587/5433	1196/1810	P/H	cCc/cAc	rs759791679	1		1	FRMPD3	HGNC	HGNC:29382	protein_coding	YES	CCDS76006.1	ENSP00000276185	Q5JV73		UPI00006C1C33	NM_032428.1	deleterious_low_confidence(0)		16/16		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs759791679	.												A	3	1	18	107601527	107601527	C	A	1	0	0	0	0	1	0	0	0	5929	623	22	2		2	FRMPD3	23	107601527	Missense_Mutation	SNP	C	C3L-00510_TP		107601527	48439368	43	7086											
MAGEC1	0	.	GRCh38	chrX	141907502	141907502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaattcctcagagtcctcttGagggagaggactccctgtct	9	11	10	11	0	3	3	1	1	2	2	6	5	6	4	3	2	0	0	3	2	1	2			C3L-00510_TP	C3L-00510_NB	G	G																c.2098G>C	p.Glu700Gln	p.E700Q	ENST00000285879	4/4	79	74	5	84	84	0	strelka-varscan-mutect	MAGEC1,missense_variant,p.Glu700Gln,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,;	C	ENST00000285879	Transcript	missense_variant	2384/4270	2098/3429	700/1142	E/Q	Gag/Cag	COSM1556997	1		1	MAGEC1	HGNC	HGNC:6812	protein_coding	YES	CCDS35417.1	ENSP00000285879	O60732		UPI000006F2FD	NM_005462.4	tolerated_low_confidence(0.14)		4/4													1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	18	141907502	141907502	G	C	1	0	0	0	0	1	0	0	0	9098	1291	45	4		4	MAGEC1	23	141907502	Missense_Mutation	SNP	G	C3L-00510_TP	34305975	141907502	14133393	44	7087											
SLC10A3	0	.	GRCh38	chrX	154488564	154488564	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccacaaagccacccccgcctCcccaggttatagcactcacg	10	5	6	20	2	1	0	1	0	0	0	2	0	2	0	7	1	2	2	7	1	3	2	novel		C3L-00510_TP	C3L-00510_NB	C	C																c.377G>C	p.Gly126Ala	p.G126A	ENST00000263512	2/2	99	60	39	159	159	0	strelka-varscan-mutect	SLC10A3,missense_variant,p.Gly126Ala,ENST00000263512,NM_019848.4;SLC10A3,missense_variant,p.Gly181Ala,ENST00000393586,;SLC10A3,missense_variant,p.Gly126Ala,ENST00000393587,NM_001142392.2;SLC10A3,missense_variant,p.Gly126Ala,ENST00000453912,;SLC10A3,intron_variant,,ENST00000369649,NM_001142391.2;UBL4A,upstream_gene_variant,,ENST00000369660,NM_014235.4;UBL4A,upstream_gene_variant,,ENST00000369653,;UBL4A,upstream_gene_variant,,ENST00000630530,;UBL4A,upstream_gene_variant,,ENST00000477777,;UBL4A,upstream_gene_variant,,ENST00000421431,;UBL4A,upstream_gene_variant,,ENST00000417913,;UBL4A,upstream_gene_variant,,ENST00000481237,;	G	ENST00000263512	Transcript	missense_variant	903/2161	377/1434	126/477	G/A	gGa/gCa		1		-1	SLC10A3	HGNC	HGNC:22979	protein_coding	YES	CCDS14755.1	ENSP00000263512	P09131		UPI0000131021	NM_019848.4	tolerated(0.26)		2/2		hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF3																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	18	154488564	154488564	C	G	1	0	0	0	0	1	0	0	0	14640	855	30	4		4	SLC10A3	23	154488564	Missense_Mutation	SNP	C	C3L-00510_TP	12581062	154488564	1552331	45	7088											
HES5	0	.	GRCh38	chr1	2529642	2529642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagcagcttcatctgcgtgtCgctggcggcgtggagcgtca	5	9	15	12	5	3	0	2	0	1	0	4	1	3	1	0	3	4	3	0	3	0	1	novel		C3L-00604_TP	C3L-00604_NB	C	C																c.328G>C	p.Asp110His	p.D110H	ENST00000378453	3/3	232	208	24	62	62	0	strelka-varscan-mutect	HES5,missense_variant,p.Asp110His,ENST00000378453,NM_001010926.3;PANK4,upstream_gene_variant,,ENST00000378466,NM_018216.2;PANK4,upstream_gene_variant,,ENST00000435556,;PANK4,upstream_gene_variant,,ENST00000491212,;PANK4,upstream_gene_variant,,ENST00000502770,;PANK4,upstream_gene_variant,,ENST00000486396,;PANK4,upstream_gene_variant,,ENST00000514922,;	G	ENST00000378453	Transcript	missense_variant	409/1306	328/501	110/166	D/H	Gac/Cac		1		-1	HES5	HGNC	HGNC:19764	protein_coding	YES	CCDS41233.1	ENSP00000367714	Q5TA89		UPI00001D7D69	NM_001010926.3	deleterious(0)		3/3		PROSITE_profiles:PS51054,hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF13,Pfam_domain:PF07527,SMART_domains:SM00511																	MODERATE	1	SNV	1			1										PASS		rs986028820	.												G	3	3	19	2529642	2529642	C	G	1	0	0	0	0	1	0	0	0	6953	884	31	4		4	HES5	1	2529642	Missense_Mutation	SNP	C	C3L-00604_TP		2529642	246426780	1	7089											
PKN2	0	.	GRCh38	chr1	88741216	88741216	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaaaaatcaaataaaaaaTtagaagaactacatcacaag	25	7	4	5	0	2	3	2	1	0	2	2	3	2	3	0	0	2	0	0	0	12	3	novel		C3L-00604_TP	C3L-00604_NB	T	T																c.277T>A	p.Leu93Ile	p.L93I	ENST00000370521	2/22	96	83	13	152	152	0	strelka-varscan-mutect	PKN2,missense_variant,p.Leu93Ile,ENST00000370521,NM_006256.2;PKN2,missense_variant,p.Leu93Ile,ENST00000370513,;PKN2,missense_variant,p.Leu93Ile,ENST00000316005,;	A	ENST00000370521	Transcript	missense_variant	636/6121	277/2955	93/984	L/I	Tta/Ata		1		1	PKN2	HGNC	HGNC:9406	protein_coding	YES	CCDS714.1	ENSP00000359552	Q16513		UPI000004D291	NM_006256.2	deleterious(0.03)		2/22		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Gene3D:1.10.287.160,Pfam_domain:PF02185,SMART_domains:SM00742,Superfamily_domains:SSF46585																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	19	88741216	88741216	T	A	1	0	0	0	0	1	0	0	0	12076	1490	52	4		4	PKN2	1	88741216	Missense_Mutation	SNP	T	C3L-00604_TP	86211574	88741216	160215206	2	7090											
IVL	0	.	GRCh38	chr1	152910987	152910987	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagctgaagcacctggTgcagcaggaggggcagctga	9	4	19	9	0	0	2	0	2	0	0	0	3	0	3	1	6	5	7	1	6	1	0	rs200245608		C3L-00604_TP	C3L-00604_NB	T	T																c.1190T>A	p.Val397Glu	p.V397E	ENST00000368764	2/2	229	214	15	141	140	1	varscan-mutect	IVL,missense_variant,p.Val397Glu,ENST00000368764,NM_005547.2;	A	ENST00000368764	Transcript	missense_variant	1254/2153	1190/1758	397/585	V/E	gTg/gAg	rs200245608	1		1	IVL	HGNC	HGNC:6187	protein_coding	YES	CCDS1030.1	ENSP00000357753	P07476		UPI000013E24A	NM_005547.2	tolerated_low_confidence(1)		2/2		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00904																	MODERATE	1	SNV	2			1										PASS		rs200245608	.												A	3	1	19	152910987	152910987	T	A	1	0	0	0	0	1	0	0	0	7835	1696	59	4		4	IVL	1	152910987	Missense_Mutation	SNP	T	C3L-00604_TP	64169771	152910987	96045435	3	7091											
ELF3	0	.	GRCh38	chr1	202013188	202013188	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccgtccccacagatggttTtcgtgactgcaagaaggggg	9	8	13	11	2	0	3	0	1	0	2	2	3	1	3	3	3	1	2	3	3	2	2	novel		C3L-00604_TP	C3L-00604_NB	T	T																c.695T>C	p.Phe232Ser	p.F232S	ENST00000359651	6/8	143	133	10	92	92	0	strelka-mutect	ELF3,missense_variant,p.Phe232Ser,ENST00000359651,;ELF3,missense_variant,p.Phe232Ser,ENST00000367284,NM_001114309.1,NM_004433.4;ELF3,missense_variant,p.Phe232Ser,ENST00000367283,;ELF3,missense_variant,p.Phe230Ser,ENST00000446188,;RP11-510N19.5,intron_variant,,ENST00000504773,;RP11-465N4.4,upstream_gene_variant,,ENST00000419190,;ELF3,non_coding_transcript_exon_variant,,ENST00000490203,;ELF3,non_coding_transcript_exon_variant,,ENST00000470384,;ELF3,downstream_gene_variant,,ENST00000495848,;ELF3,upstream_gene_variant,,ENST00000475698,;ELF3,downstream_gene_variant,,ENST00000498017,;ELF3,downstream_gene_variant,,ENST00000479874,;	C	ENST00000359651	Transcript	missense_variant	3887/4994	695/1116	232/371	F/S	tTt/tCt		1		1	ELF3	HGNC	HGNC:3318	protein_coding	YES	CCDS1419.1	ENSP00000352673	P78545	A0A024R974	UPI0000034E32		tolerated(0.09)		6/8																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	19	202013188	202013188	T	C	1	0	0	0	0	1	0	0	0	4888	1841	64	5		5	ELF3	1	202013188	Missense_Mutation	SNP	T	C3L-00604_TP	49102201	202013188	46943234	4	7092											
DSTYK	0	.	GRCh38	chr1	205211522	205211522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcgctgccccatggcaccCcgtcgccctccatcgcctct	3	8	8	22	4	1	0	0	0	1	0	5	0	2	0	7	1	1	3	7	1	0	0	novel		C3L-00604_TP	C3L-00604_NB	C	C																c.14G>T	p.Gly5Val	p.G5V	ENST00000367162	1/13	117	66	51	60	60	0	strelka-varscan-mutect	DSTYK,missense_variant,p.Gly5Val,ENST00000367162,NM_015375.2;DSTYK,missense_variant,p.Gly5Val,ENST00000367161,NM_199462.2;	A	ENST00000367162	Transcript	missense_variant	45/7874	14/2790	5/929	G/V	gGg/gTg		1		-1	DSTYK	HGNC	HGNC:29043	protein_coding	YES	CCDS1451.1	ENSP00000356130	Q6XUX3		UPI00001D7D39	NM_015375.2	deleterious_low_confidence(0.04)		1/13		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1226609749	.												A	3	1	19	205211522	205211522	C	A	1	0	0	0	0	1	0	0	0	4606	623	22	2		2	DSTYK	1	205211522	Missense_Mutation	SNP	C	C3L-00604_TP	3198334	205211522	43744900	5	7093											
OR2C3	0	.	GRCh38	chr1	247532242	247532242	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccatagcttatggttttCtgtggtccccagaggttagc	6	14	10	11	0	1	1	0	0	1	1	3	1	3	1	4	3	2	3	4	3	3	5	novel		C3L-00604_TP	C3L-00604_NB	C	C																c.270G>A	p.=	p.Q90Q	ENST00000366487	2/2	491	376	115	321	321	0	strelka-varscan-mutect	OR2C3,synonymous_variant,p.=,ENST00000366487,NM_198074.4;OR2C3,synonymous_variant,p.=,ENST00000617752,;GCSAML,intron_variant,,ENST00000366491,NM_001281834.1;GCSAML,intron_variant,,ENST00000536561,NM_001281853.1;GCSAML,intron_variant,,ENST00000366489,NM_001281835.1;GCSAML,intron_variant,,ENST00000623578,NM_001281837.1;GCSAML,intron_variant,,ENST00000463359,;GCSAML,intron_variant,,ENST00000527084,NM_001281836.1;GCSAML,intron_variant,,ENST00000527541,NM_001281838.1;GCSAML,intron_variant,,ENST00000529512,;GCSAML,intron_variant,,ENST00000526896,;GCSAML,intron_variant,,ENST00000531662,;	T	ENST00000366487	Transcript	synonymous_variant	632/2742	270/963	90/320	Q	caG/caA		1		-1	OR2C3	HGNC	HGNC:15005	protein_coding	YES	CCDS1634.2	ENSP00000355443	Q8N628		UPI0000061EBD	NM_198074.4			2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF117,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW		SNV				1										PASS		.	.												T	2	4	19	247532242	247532242	C	T	1	0	0	0	0	0	0	0	1	11072	912	32	3		3	OR2C3	1	247532242	Silent	SNP	C	C3L-00604_TP	42320720	247532242	1424180	6	7094											
SIX2	0	.	GRCh38	chr2	45006218	45006218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatggggttgaggatggaGtcctgcaggccatggtggtg	7	9	19	6	0	0	1	0	1	0	0	1	4	1	3	2	7	1	2	2	7	0	1	novel		C3L-00604_TP	C3L-00604_NB	G	G																c.828C>G	p.Asp276Glu	p.D276E	ENST00000303077	2/2	450	393	57	430	430	0	strelka-varscan-mutect	SIX2,missense_variant,p.Asp276Glu,ENST00000303077,NM_016932.4;	C	ENST00000303077	Transcript	missense_variant	1148/2205	828/876	276/291	D/E	gaC/gaG		1		-1	SIX2	HGNC	HGNC:10888	protein_coding	YES	CCDS1822.1	ENSP00000304502	Q9NPC8		UPI00001359C0	NM_016932.4	deleterious_low_confidence(0)		2/2		hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF29																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	19	45006218	45006218	G	C	1	0	0	0	0	1	0	0	0	14610	1020	36	4		4	SIX2	2	45006218	Missense_Mutation	SNP	G	C3L-00604_TP		45006218	197187311	7	7095											
ADD2	0	.	GRCh38	chr2	70683702	70683702	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acggagcccacctcatggggCcggtgcttctcctgctccag	5	8	12	16	2	2	0	1	0	1	0	4	1	3	1	5	4	3	2	5	4	0	1	novel		C3L-00604_TP	C3L-00604_NB	C	C																c.1014G>A	p.=	p.R338R	ENST00000264436	10/16	120	102	18	105	105	0	strelka-varscan-mutect	ADD2,synonymous_variant,p.=,ENST00000264436,NM_001617.3;ADD2,synonymous_variant,p.=,ENST00000413157,NM_017482.3;ADD2,synonymous_variant,p.=,ENST00000407644,NM_001185054.1;ADD2,synonymous_variant,p.=,ENST00000355733,NM_017488.3;ADD2,synonymous_variant,p.=,ENST00000430656,NM_001185055.1;ADD2,intron_variant,,ENST00000456320,;ADD2,intron_variant,,ENST00000522886,;AC007395.3,upstream_gene_variant,,ENST00000457851,;ADD2,synonymous_variant,p.=,ENST00000403045,;	T	ENST00000264436	Transcript	synonymous_variant	1459/9267	1014/2181	338/726	R	cgG/cgA		1		-1	ADD2	HGNC	HGNC:244	protein_coding	YES	CCDS1906.1	ENSP00000264436	P35612		UPI0000125503	NM_001617.3			10/16		hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF6																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	19	70683702	70683702	C	T	1	0	0	0	0	0	0	0	1	349	726	26	3		3	ADD2	2	70683702	Silent	SNP	C	C3L-00604_TP	25677484	70683702	171509827	8	7096											
TRANK1	0	.	GRCh38	chr3	36874145	36874145	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgataggtccttagaacaCgtagctagcttttctaagtg	10	13	9	9	1	1	2	0	1	1	1	2	2	2	2	2	1	3	3	2	1	6	7	novel		C3L-00604_TP	C3L-00604_NB	C	C																c.927G>T	p.=	p.T309T	ENST00000429976	8/23	71	57	14	78	78	0	strelka-varscan-mutect	TRANK1,synonymous_variant,p.=,ENST00000429976,NM_014831.2;	A	ENST00000429976	Transcript	synonymous_variant	1175/10481	927/8778	309/2925	T	acG/acT		1		-1	TRANK1	HGNC	HGNC:29011	protein_coding	YES	CCDS46789.2	ENSP00000416168	O15050		UPI00017BE82B	NM_014831.2			8/23		hmmpanther:PTHR21529,hmmpanther:PTHR21529:SF4																	LOW	1	SNV	5			1										PASS		rs969787740	.												A	2	1	19	36874145	36874145	C	A	1	0	0	0	0	0	0	0	1	16937	523	19	1		1	TRANK1	3	36874145	Silent	SNP	C	C3L-00604_TP		36874145	161421414	9	7097											
DPPA2	0	.	GRCh38	chr3	109304596	109304596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcacccaggcctgacctgCatgaaactgcaggcgtaccc	10	5	11	15	1	0	2	0	2	0	0	0	2	0	2	4	3	4	4	4	3	2	1	novel		C3L-00604_TP	C3L-00604_NB	C	C																c.733G>A	p.Ala245Thr	p.A245T	ENST00000478945	7/9	163	148	15	122	122	0	varscan-mutect	DPPA2,missense_variant,p.Ala245Thr,ENST00000478945,NM_138815.3;	T	ENST00000478945	Transcript	missense_variant	980/1383	733/897	245/298	A/T	Gca/Aca		1		-1	DPPA2	HGNC	HGNC:19197	protein_coding	YES	CCDS2956.1	ENSP00000417710	Q7Z7J5		UPI000007143F	NM_138815.3	deleterious(0.05)		7/9		Pfam_domain:PF14047,hmmpanther:PTHR16073,hmmpanther:PTHR16073:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	19	109304596	109304596	C	T	1	0	0	0	0	1	0	0	0	4549	710	25	3		3	DPPA2	3	109304596	Missense_Mutation	SNP	C	C3L-00604_TP	72430451	109304596	88990963	10	7098											
TOPBP1	0	.	GRCh38	chr3	133611024	133611024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacaatgccagattcttGtctttgctggattttttttc	7	19	6	9	0	3	1	1	0	2	1	4	2	3	2	1	1	3	1	1	1	2	7	novel		C3L-00604_TP	C3L-00604_NB	G	G																c.4153C>A	p.Gln1385Lys	p.Q1385K	ENST00000260810	25/28	118	105	13	70	70	0	strelka-mutect	TOPBP1,missense_variant,p.Gln1385Lys,ENST00000260810,NM_007027.3;TOPBP1,upstream_gene_variant,,ENST00000503338,;TOPBP1,upstream_gene_variant,,ENST00000503464,;	T	ENST00000260810	Transcript	missense_variant	4285/5378	4153/4569	1385/1522	Q/K	Caa/Aaa		1		-1	TOPBP1	HGNC	HGNC:17008	protein_coding	YES	CCDS46919.1	ENSP00000260810	Q92547		UPI000020A292	NM_007027.3	tolerated(0.2)		25/28		hmmpanther:PTHR13561:SF32,hmmpanther:PTHR13561																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	19	133611024	133611024	G	T	1	0	0	0	0	1	0	0	0	16846	1386	48	2		2	TOPBP1	3	133611024	Missense_Mutation	SNP	G	C3L-00604_TP	24306428	133611024	64684535	11	7099											
PIK3CA	0	.	GRCh38	chr3	179218294	179218294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		C3L-00604_TP	C3L-00604_NB	G	G																c.1624G>A	p.Glu542Lys	p.E542K	ENST00000263967	10/21	174	123	51	140	140	0	strelka-varscan-mutect	PIK3CA,missense_variant,p.Glu542Lys,ENST00000263967,NM_006218.2;PIK3CA,upstream_gene_variant,,ENST00000462255,;	A	ENST00000263967	Transcript	missense_variant	1781/9093	1624/3207	542/1068	E/K	Gaa/Aaa	rs121913273,COSM125369,COSM17442,COSM326157,COSM760	1		1	PIK3CA	HGNC	HGNC:8975	protein_coding	YES	CCDS43171.1	ENSP00000263967	P42336		UPI000013D494	NM_006218.2	deleterious(0.04)		10/21		Gene3D:1.25.40.70,Pfam_domain:PF00613,PROSITE_profiles:PS51545,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF54,SMART_domains:SM00145,Superfamily_domains:SSF48371										pathogenic	0,1,1,1,1						MODERATE	1	SNV	2		1,1,1,1,1	1										PASS		rs121913273	.												A	3	1	19	179218294	179218294	G	A	1	0	0	0	0	1	0	0	0	12008	1291	45	3		3	PIK3CA	3	179218294	Missense_Mutation	SNP	G	C3L-00604_TP	45607270	179218294	19077265	12	7100											
ANKRD17	0	.	GRCh38	chr4	73142767	73142767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggttctattcacattcgctCctaaaacagaaaaggcatgg	13	11	8	9	1	2	1	1	0	1	1	4	1	3	1	1	3	1	3	1	3	5	5	novel		C3L-00604_TP	C3L-00604_NB	C	C																c.1958G>T	p.Gly653Val	p.G653V	ENST00000358602	12/34	169	145	24	130	130	0	strelka-varscan-mutect	ANKRD17,missense_variant,p.Gly653Val,ENST00000358602,NM_015574.1,NM_032217.3;ANKRD17,missense_variant,p.Gly538Val,ENST00000558247,;ANKRD17,missense_variant,p.Gly540Val,ENST00000509867,NM_001286771.1;ANKRD17,missense_variant,p.Gly653Val,ENST00000330838,NM_198889.1;ANKRD17,intron_variant,,ENST00000561029,;ANKRD17,splice_region_variant,,ENST00000514252,;	A	ENST00000358602	Transcript	missense_variant,splice_region_variant	2075/10784	1958/7812	653/2603	G/V	gGa/gTa		1		-1	ANKRD17	HGNC	HGNC:23575	protein_coding	YES	CCDS34004.1	ENSP00000351416	O75179		UPI00002263B0	NM_015574.1,NM_032217.3	deleterious(0)		12/34		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR23206,hmmpanther:PTHR23206:SF1,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	19	73142767	73142767	C	A	1	0	0	0	0	1	0	0	0	747	869	30	2		2	ANKRD17	4	73142767	Missense_Mutation	SNP	C	C3L-00604_TP		73142767	117071788	13	7101											
RNF144B	0	.	GRCh38	chr6	18439717	18439717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctgtggaccagtttcaaCtttatcagaggttaaaattt	12	15	7	7	0	2	1	2	0	0	1	2	2	2	2	2	2	2	2	2	2	5	6	novel		C3L-00604_TP	C3L-00604_NB	C	C																c.304C>T	p.Leu102Phe	p.L102F	ENST00000259939	4/8	170	125	45	130	130	0	strelka-varscan-mutect	RNF144B,missense_variant,p.Leu102Phe,ENST00000259939,NM_182757.3;	T	ENST00000259939	Transcript	missense_variant	621/5036	304/912	102/303	L/F	Ctt/Ttt		1		1	RNF144B	HGNC	HGNC:21578	protein_coding	YES	CCDS34345.1	ENSP00000259939	Q7Z419		UPI00001B2DA3	NM_182757.3	deleterious(0.04)		4/8		hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF104,Pfam_domain:PF01485,SMART_domains:SM00647,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	19	18439717	18439717	C	T	1	0	0	0	0	1	0	0	0	13624	565	20	3		3	RNF144B	6	18439717	Missense_Mutation	SNP	C	C3L-00604_TP		18439717	152366262	14	7102											
HACE1	0	.	GRCh38	chr6	104776793	104776793	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattgactatctcattggaCagaatatcaaaccactcacg	14	10	7	10	1	3	2	3	1	1	1	4	4	3	4	1	2	1	0	1	2	4	4			C3L-00604_TP	C3L-00604_NB	C	C																c.1812G>T	p.=	p.L604L	ENST00000262903	17/24	306	236	70	336	336	0	strelka-varscan-mutect	HACE1,synonymous_variant,p.=,ENST00000262903,NM_001321083.1,NM_020771.3;HACE1,synonymous_variant,p.=,ENST00000518503,;HACE1,synonymous_variant,p.=,ENST00000518402,;HACE1,intron_variant,,ENST00000369125,;HACE1,non_coding_transcript_exon_variant,,ENST00000517995,;HACE1,3_prime_UTR_variant,,ENST00000416605,;HACE1,3_prime_UTR_variant,,ENST00000517424,;HACE1,non_coding_transcript_exon_variant,,ENST00000369127,;	A	ENST00000262903	Transcript	synonymous_variant	2089/4576	1812/2730	604/909	L	ctG/ctT	COSM4531662	1		-1	HACE1	HGNC	HGNC:21033	protein_coding	YES	CCDS5050.1	ENSP00000262903	Q8IYU2		UPI00001602DC	NM_001321083.1,NM_020771.3			17/24		Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,SMART_domains:SM00119,Superfamily_domains:SSF56204											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	19	104776793	104776793	C	A	1	0	0	0	0	0	0	0	1	6826	465	17	2		2	HACE1	6	104776793	Silent	SNP	C	C3L-00604_TP	86337076	104776793	66029186	15	7103											
EGFR	0	.	GRCh38	chr7	55174772	55174786	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-																															aaaattcccgtcgctatcaaGgaattaagagaagcaacatc																								rs121913421		C3L-00604_TP	C3L-00604_NB	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC																c.2235_2249delGGAATTAAGAGAAGC	p.Glu746_Ala750del	p.E746_A750del	ENST00000275493	19/28	588	408	180	445	445	0	sindel-varindel-pindel	EGFR,inframe_deletion,p.Glu746_Ala750del,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000454757,;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	-	ENST00000275493	Transcript	inframe_deletion	2412-2426/9821	2235-2249/3633	745-750/1210	KELREA/K	aaGGAATTAAGAGAAGCa/aaa	rs121913421,COSM6223	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1						MODERATE	1	deletion	1		1,1	1										PASS		.	.												-	7	5	19	55174772	55174772	GGAATTAAGAGAAGC	-	1	0	1	0	1	0	0	0	0	4803	991	35	0		0	EGFR	7	55174772	In_Frame_Del	DEL	GGAATTAAGAGAAGC	C3L-00604_TP		55174772	104171201	16	7104											
POM121C	0	.	GRCh38	chr7	75437684	75437684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctcttcagagacccaGgcctaataaaagagaagaca	15	6	9	11	0	2	3	1	0	1	3	3	5	2	3	3	2	0	0	3	2	4	3	novel		C3L-00604_TP	C3L-00604_NB	G	G																c.311C>T	p.Pro104Leu	p.P104L	ENST00000615331	7/15	58	37	21	43	43	0	strelka-varscan-mutect	POM121C,missense_variant,p.Pro104Leu,ENST00000615331,NM_001099415.2;POM121C,missense_variant,p.Pro346Leu,ENST00000607367,;POM121C,splice_region_variant,,ENST00000439629,;POM121C,downstream_gene_variant,,ENST00000398379,;POM121C,upstream_gene_variant,,ENST00000473168,;POM121C,upstream_gene_variant,,ENST00000479864,;	A	ENST00000615331	Transcript	missense_variant,splice_region_variant	1176/5835	311/2964	104/987	P/L	cCt/cTt		1		-1	POM121C	HGNC	HGNC:34005	protein_coding	YES	CCDS47617.1	ENSP00000481575		A0A087WY75	UPI0003335169	NM_001099415.2	deleterious(0.02)		7/15		hmmpanther:PTHR23193:SF5,hmmpanther:PTHR23193,Pfam_domain:PF15229																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	19	75437684	75437684	G	A	1	0	0	0	0	1	0	0	0	12351	1014	35	3		3	POM121C	7	75437684	Missense_Mutation	SNP	G	C3L-00604_TP	20262912	75437684	83908289	17	7105											
CTTNBP2	0	.	GRCh38	chr7	117735087	117735087	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaaagtaataacattcGgacagtccatttcctgaaac	15	11	6	9	1	1	2	1	2	0	0	4	3	3	3	2	1	2	1	2	1	4	4	rs780731601		C3L-00604_TP	C3L-00604_NB	G	G																c.3702C>T	p.=	p.S1234S	ENST00000160373	16/23	97	87	10	66	66	0	strelka-varscan-mutect	CTTNBP2,synonymous_variant,p.=,ENST00000160373,NM_033427.2;CTTNBP2,synonymous_variant,p.=,ENST00000446636,;CTTNBP2,downstream_gene_variant,,ENST00000435233,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;	A	ENST00000160373	Transcript	synonymous_variant	3794/5970	3702/4992	1234/1663	S	tcC/tcT	rs780731601,COSM1622249	1		-1	CTTNBP2	HGNC	HGNC:15679	protein_coding	YES	CCDS5774.1	ENSP00000160373	Q8WZ74	Q20BG9	UPI000006E94A	NM_033427.2			16/23													0,1						LOW	1	SNV	1		0,1	1										PASS		rs780731601	.												A	2	1	19	117735087	117735087	G	A	1	0	0	0	0	0	0	0	1	3854	1103	39	1		1	CTTNBP2	7	117735087	Silent	SNP	G	C3L-00604_TP	42297403	117735087	41610886	18	7106											
CCDC136	0	.	GRCh38	chr7	128814834	128814834	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatgctaataagaacaTgaacaagaatgccaatgggg	19	6	11	5	0	0	4	0	1	0	3	0	5	0	4	1	2	4	1	1	2	9	2	novel		C3L-00604_TP	C3L-00604_NB	T	T																c.2960T>G	p.Met987Arg	p.M987R	ENST00000297788	15/18	200	143	57	117	117	0	strelka-varscan-mutect	CCDC136,missense_variant,p.Met987Arg,ENST00000297788,NM_022742.4;CCDC136,missense_variant,p.Met864Arg,ENST00000494552,;CCDC136,intron_variant,,ENST00000487361,;CCDC136,intron_variant,,ENST00000464672,;CCDC136,intron_variant,,ENST00000464832,;CCDC136,intron_variant,,ENST00000378685,NM_001201372.1;CCDC136,non_coding_transcript_exon_variant,,ENST00000471729,;CCDC136,non_coding_transcript_exon_variant,,ENST00000480137,;CCDC136,intron_variant,,ENST00000528772,;CCDC136,downstream_gene_variant,,ENST00000460941,;	G	ENST00000297788	Transcript	missense_variant	3327/4169	2960/3465	987/1154	M/R	aTg/aGg		1		1	CCDC136	HGNC	HGNC:22225	protein_coding	YES	CCDS47704.1	ENSP00000297788	Q96JN2		UPI0000E445DE	NM_022742.4	deleterious(0.05)		15/18		Low_complexity_(Seg):seg,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF26																	MODERATE	1	SNV	1			1										PASS		rs1184844522	.												G	3	3	19	128814834	128814834	T	G	1	0	0	0	0	1	0	0	0	2459	1464	51	5		5	CCDC136	7	128814834	Missense_Mutation	SNP	T	C3L-00604_TP	11079747	128814834	30531139	19	7107											
COPG2	0	.	GRCh38	chr7	130612237	130612237	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagcttatcttcatcatgTgctaaatacagaaaaaaaaa	19	11	4	7	0	3	1	2	0	1	1	3	1	3	1	0	0	3	2	0	0	9	5	novel		C3L-00604_TP	C3L-00604_NB	T	T																c.494A>T	p.His165Leu	p.H165L	ENST00000425248	8/24	84	59	25	74	74	0	strelka-varscan-mutect	COPG2,missense_variant,p.His165Leu,ENST00000425248,NM_012133.5;COPG2,missense_variant,p.His165Leu,ENST00000330992,NM_001290033.1;	A	ENST00000425248	Transcript	missense_variant,splice_region_variant	574/3134	494/2616	165/871	H/L	cAc/cTc		1		-1	COPG2	HGNC	HGNC:2237	protein_coding	YES	CCDS75662.1	ENSP00000402346	Q9UBF2	A0A140VK12	UPI0000000960	NM_012133.5	deleterious(0)		8/24		hmmpanther:PTHR10261:SF4,hmmpanther:PTHR10261,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037093,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	19	130612237	130612237	T	A	1	0	0	0	0	1	0	0	0	3524	1710	59	4		4	COPG2	7	130612237	Missense_Mutation	SNP	T	C3L-00604_TP	1797403	130612237	28733736	20	7108											
EZH2	0	.	GRCh38	chr7	148811666	148811666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaattcatttttctgcacagGatctttgataaaaatccccc	12	14	5	10	0	3	1	1	1	2	0	4	3	4	2	2	1	1	1	2	1	4	5	novel		C3L-00604_TP	C3L-00604_NB	G	G																c.1906C>T	p.Pro636Ser	p.P636S	ENST00000320356	16/20	178	139	39	111	111	0	strelka-varscan-mutect	EZH2,missense_variant,p.Pro636Ser,ENST00000320356,NM_004456.4;EZH2,missense_variant,p.Pro631Ser,ENST00000460911,NM_001203247.1;EZH2,missense_variant,p.Pro580Ser,ENST00000476773,NM_001203249.1;EZH2,missense_variant,p.Pro580Ser,ENST00000478654,;EZH2,missense_variant,p.Pro592Ser,ENST00000350995,NM_152998.2;EZH2,missense_variant,p.Pro622Ser,ENST00000483967,NM_001203248.1;EZH2,3_prime_UTR_variant,,ENST00000492143,;EZH2,non_coding_transcript_exon_variant,,ENST00000469631,;	A	ENST00000320356	Transcript	missense_variant	2028/2639	1906/2256	636/751	P/S	Cct/Tct		1		-1	EZH2	HGNC	HGNC:3527	protein_coding	YES	CCDS5891.1	ENSP00000320147	Q15910	A0A090N8E9	UPI000006D77C	NM_004456.4	tolerated(1)		16/20		PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF287,Gene3D:2.170.270.10,Pfam_domain:PF00856,SMART_domains:SM00317,Superfamily_domains:SSF82199																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	19	148811666	148811666	G	A	1	0	0	0	0	1	0	0	0	5202	1174	41	3		3	EZH2	7	148811666	Missense_Mutation	SNP	G	C3L-00604_TP	18199429	148811666	10534307	21	7109											
DLGAP2	0	.	GRCh38	chr8	1678346	1678346	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccttccagcggcactcCgagcccagcacccccaccca	8	5	6	22	2	1	0	1	0	0	0	4	1	4	0	7	1	3	2	7	1	0	1	rs755621517		C3L-00604_TP	C3L-00604_NB	C	C																c.2139C>T	p.=	p.S713S	ENST00000612087	8/11	254	238	16	197	197	0	strelka-varscan-mutect	DLGAP2,synonymous_variant,p.=,ENST00000612087,NM_001277161.1;DLGAP2,synonymous_variant,p.=,ENST00000520901,;DLGAP2,synonymous_variant,p.=,ENST00000637795,;DLGAP2,synonymous_variant,p.=,ENST00000421627,;DLGAP2,synonymous_variant,p.=,ENST00000637152,NM_004745.4;DLGAP2,synonymous_variant,p.=,ENST00000522499,;DLGAP2,upstream_gene_variant,,ENST00000518530,;DLGAP2,non_coding_transcript_exon_variant,,ENST00000524065,;	T	ENST00000612087	Transcript	synonymous_variant	2273/10088	2139/2886	713/961	S	tcC/tcT	rs755621517,COSM1097423,COSM1097424	1		1	DLGAP2	HGNC	HGNC:2906	protein_coding	YES	CCDS75689.1	ENSP00000484215		H0YBY6	UPI0002B8CE71	NM_001277161.1			8/11		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3,Pfam_domain:PF03359											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs755621517	.												T	2	4	19	1678346	1678346	C	T	1	0	0	0	0	0	0	0	1	4367	639	23	1		1	DLGAP2	8	1678346	Silent	SNP	C	C3L-00604_TP		1678346	143460290	22	7110											
HOOK3	0	.	GRCh38	chr8	43007885	43007885	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caataatgaactacagaagaAgagagccattattgaagatc	19	8	8	6	0	0	6	0	2	0	4	1	7	0	6	1	0	3	0	1	0	8	4	novel		C3L-00604_TP	C3L-00604_NB	A	A																c.1694A>T	p.Lys565Met	p.K565M	ENST00000307602	18/22	186	133	53	153	153	0	strelka-varscan-mutect	HOOK3,missense_variant,p.Lys565Met,ENST00000307602,NM_032410.3;HOOK3,missense_variant,p.Lys43Met,ENST00000533539,;HOOK3,non_coding_transcript_exon_variant,,ENST00000524839,;HOOK3,3_prime_UTR_variant,,ENST00000526882,;	T	ENST00000307602	Transcript	missense_variant	1894/14398	1694/2157	565/718	K/M	aAg/aTg		1		1	HOOK3	HGNC	HGNC:23576	protein_coding	YES	CCDS6139.1	ENSP00000305699	Q86VS8		UPI000006DD7B	NM_032410.3	deleterious(0)		18/22		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947:SF38,hmmpanther:PTHR18947,Pfam_domain:PF05622																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	19	43007885	43007885	A	T	1	0	0	0	0	1	0	0	0	7178	72	3	4		4	HOOK3	8	43007885	Missense_Mutation	SNP	A	C3L-00604_TP	41329539	43007885	102130751	23	7111											
TAF1L	0	.	GRCh38	chr9	32634703	32634703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattccacctcctggatctGctcttcctgtatcagctcac	6	13	6	16	0	4	0	2	0	2	0	7	1	7	1	4	1	2	4	4	1	1	3	novel		C3L-00604_TP	C3L-00604_NB	G	G																c.877C>A	p.Gln293Lys	p.Q293K	ENST00000242310	1/1	227	134	93	288	288	0	strelka-varscan-mutect	TAF1L,missense_variant,p.Gln293Lys,ENST00000242310,NM_153809.2;RP11-555J4.4,non_coding_transcript_exon_variant,,ENST00000430787,;	T	ENST00000242310	Transcript	missense_variant	967/6216	877/5481	293/1826	Q/K	Cag/Aag		1		-1	TAF1L	HGNC	HGNC:18056	protein_coding	YES	CCDS35003.1	ENSP00000418379	Q8IZX4		UPI000007408A	NM_153809.2	tolerated(0.87)		1/1		PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		rs936487944	.												T	3	4	19	32634703	32634703	G	T	1	0	0	0	0	1	0	0	0	15919	1328	46	2		2	TAF1L	9	32634703	Missense_Mutation	SNP	G	C3L-00604_TP		32634703	105760014	24	7112											
RECK	0	.	GRCh38	chr9	36110020	36110020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgctggcaatttggtgtGctctacccgcctttgcctca	4	16	9	12	1	2	0	1	0	1	0	2	0	2	0	3	2	4	3	3	2	2	5	novel		C3L-00604_TP	C3L-00604_NB	G	G																c.1829G>T	p.Cys610Phe	p.C610F	ENST00000377966	15/21	232	184	48	164	164	0	strelka-varscan-mutect	RECK,missense_variant,p.Cys610Phe,ENST00000377966,NM_021111.2;	T	ENST00000377966	Transcript	missense_variant	2395/4888	1829/2916	610/971	C/F	tGc/tTc		1		1	RECK	HGNC	HGNC:11345	protein_coding	YES	CCDS6597.1	ENSP00000367202	O95980		UPI0000133587	NM_021111.2	deleterious(0)		15/21		hmmpanther:PTHR13487																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	19	36110020	36110020	G	T	1	0	0	0	0	1	0	0	0	13370	1319	46	2		2	RECK	9	36110020	Missense_Mutation	SNP	G	C3L-00604_TP	3475317	36110020	102284697	25	7113											
TRPM6	0	.	GRCh38	chr9	74739854	74739854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcagaccaagtgctgaCgactctcatagctttacgga	11	10	8	12	2	2	2	2	1	1	1	4	4	3	3	2	1	3	2	2	1	3	3	rs142946646		C3L-00604_TP	C3L-00604_NB	C	C																c.5356G>A	p.Val1786Ile	p.V1786I	ENST00000360774	34/39	524	402	122	429	429	0	strelka-varscan-mutect	TRPM6,missense_variant,p.Val1786Ile,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Val1781Ile,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Val1781Ile,ENST00000449912,NM_001177310.1;	T	ENST00000360774	Transcript	missense_variant	5594/8425	5356/6069	1786/2022	V/I	Gtc/Atc	rs142946646,COSM3216984,COSM3216985,COSM4374758	1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4	tolerated(1)		34/39		Gene3D:3.30.200.20,Pfam_domain:PF02816,PROSITE_profiles:PS51158,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15,SMART_domains:SM00811,Superfamily_domains:SSF56112											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs142946646	.												T	3	4	19	74739854	74739854	C	T	1	0	0	0	0	1	0	0	0	17096	536	19	1		1	TRPM6	9	74739854	Missense_Mutation	SNP	C	C3L-00604_TP	38629834	74739854	63654863	26	7114											
GNA14	0	.	GRCh38	chr9	77529102	77529102	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacatactgtatccttagCgtgtccatcgctctgatcat	9	13	6	13	2	2	1	1	1	1	0	5	1	4	1	2	0	2	2	2	0	3	3	rs781490674		C3L-00604_TP	C3L-00604_NB	C	C																c.276G>A	p.=	p.T92T	ENST00000341700	2/7	217	162	55	173	173	0	strelka-varscan-mutect	GNA14,synonymous_variant,p.=,ENST00000341700,NM_004297.3;GNA14-AS1,downstream_gene_variant,,ENST00000439145,;	T	ENST00000341700	Transcript	synonymous_variant	790/2482	276/1068	92/355	T	acG/acA	rs781490674	1		-1	GNA14	HGNC	HGNC:4382	protein_coding	YES	CCDS6657.1	ENSP00000365807	O95837		UPI000004D20C	NM_004297.3			2/7		Gene3D:1.10.400.10,Pfam_domain:PF00503,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF213,SMART_domains:SM00275,Superfamily_domains:SSF47895																	LOW	1	SNV	1			1										PASS		rs781490674	.												T	2	4	19	77529102	77529102	C	T	1	0	0	0	0	0	0	0	1	6382	755	27	1		1	GNA14	9	77529102	Silent	SNP	C	C3L-00604_TP	2789248	77529102	60865615	27	7115											
ERCC6	0	.	GRCh38	chr10	49528507	49528507	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttttgttttgcagtgaTcttttttagctgttgttcct	4	23	8	6	0	1	1	0	1	1	0	2	1	2	1	1	0	3	6	1	0	1	9	novel		C3L-00604_TP	C3L-00604_NB	T	T																c.562A>T	p.Ile188Phe	p.I188F	ENST00000355832	4/21	427	384	43	426	426	0	strelka-varscan-mutect	ERCC6,missense_variant,p.Ile188Phe,ENST00000355832,NM_000124.3;ERCC6,missense_variant,p.Ile188Phe,ENST00000515869,NM_001277059.1;ERCC6,missense_variant,p.Ile188Phe,ENST00000447839,NM_001277058.1;ERCC6,downstream_gene_variant,,ENST00000462247,;ERCC6,non_coding_transcript_exon_variant,,ENST00000479652,;	A	ENST00000355832	Transcript	missense_variant	641/8008	562/4482	188/1493	I/F	Atc/Ttc		1		-1	ERCC6	HGNC	HGNC:3438	protein_coding	YES	CCDS7229.1	ENSP00000348089	Q03468		UPI000000D8DA	NM_000124.3	deleterious(0.01)		4/21		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	19	49528507	49528507	T	A	1	0	0	0	0	1	0	0	0	5066	1435	50	4		4	ERCC6	10	49528507	Missense_Mutation	SNP	T	C3L-00604_TP		49528507	84268915	28	7116											
ABCC8	0	.	GRCh38	chr11	17430865	17430865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactggacagcaggaacagcGgtgtgaccaagatatggaag	14	5	14	8	1	0	2	0	1	0	1	0	5	0	5	1	4	3	1	1	4	4	1			C3L-00604_TP	C3L-00604_NB	G	G																c.1766C>T	p.Pro589Leu	p.P589L	ENST00000302539	12/39	596	516	80	400	400	0	strelka-varscan-mutect	ABCC8,missense_variant,p.Pro589Leu,ENST00000302539,NM_001287174.1;ABCC8,missense_variant,p.Pro589Leu,ENST00000389817,NM_000352.4;ABCC8,non_coding_transcript_exon_variant,,ENST00000528202,;ABCC8,missense_variant,p.Pro589Leu,ENST00000527905,;ABCC8,non_coding_transcript_exon_variant,,ENST00000532728,;ABCC8,non_coding_transcript_exon_variant,,ENST00000635881,;ABCC8,non_coding_transcript_exon_variant,,ENST00000526002,;ABCC8,upstream_gene_variant,,ENST00000531911,;SDHCP4,downstream_gene_variant,,ENST00000532834,;	A	ENST00000302539	Transcript	missense_variant	1835/4923	1766/4749	589/1582	P/L	cCg/cTg	COSM925483	1		-1	ABCC8	HGNC	HGNC:59	protein_coding	YES	CCDS73264.1	ENSP00000303960	Q09428		UPI00015DFF64	NM_001287174.1	deleterious(0)		12/39		Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF187,Superfamily_domains:SSF90123,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	19	17430865	17430865	G	A	1	0	0	0	0	1	0	0	0	62	1116	39	1		1	ABCC8	11	17430865	Missense_Mutation	SNP	G	C3L-00604_TP		17430865	117655757	29	7117											
TRIM64C	0	.	GRCh38	chr11	49054121	49054121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggatccatgggtgcactgcGatggtcatctccaaatatca	10	10	11	10	1	3	0	2	0	1	0	5	2	4	1	2	3	2	1	2	3	2	1	novel		C3L-00604_TP	C3L-00604_NB	G	G																c.946C>T	p.Arg316Cys	p.R316C	ENST00000617704	6/6	293	275	18	249	249	0	strelka-varscan-mutect	TRIM64C,missense_variant,p.Arg316Cys,ENST00000617704,NM_001206631.1;TRIM64C,missense_variant,p.Arg313Cys,ENST00000530230,;	A	ENST00000617704	Transcript	missense_variant	946/1353	946/1353	316/450	R/C	Cgc/Tgc		1		-1	TRIM64C	HGNC	HGNC:37148	protein_coding	YES	CCDS73287.1	ENSP00000481815		A0A087WYH8	UPI00006C1130	NM_001206631.1	tolerated(0.08)		6/6		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF354,hmmpanther:PTHR24103,Superfamily_domains:SSF49899,Prints_domain:PR01407																	MODERATE	1	SNV	5			1										PASS		rs1379722418	.												A	3	1	19	49054121	49054121	G	A	1	0	0	0	0	1	0	0	0	17033	1058	37	1		1	TRIM64C	11	49054121	Missense_Mutation	SNP	G	C3L-00604_TP	31623256	49054121	86032501	30	7118											
VPS51	0	.	GRCh38	chr11	65107945	65107945	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagtaccaacacctGccctcgttccgcgccatcca	8	7	7	19	3	0	0	0	0	0	0	3	0	2	0	6	0	5	4	6	0	2	2	novel		C3L-00604_TP	C3L-00604_NB	G	G																c.648G>T	p.=	p.L216L	ENST00000279281	4/10	133	106	27	85	84	1	strelka-varscan-mutect	VPS51,synonymous_variant,p.=,ENST00000279281,NM_013265.3;VPS51,synonymous_variant,p.=,ENST00000529180,;VPS51,synonymous_variant,p.=,ENST00000534557,;VPS51,synonymous_variant,p.=,ENST00000530773,;TM7SF2,upstream_gene_variant,,ENST00000279263,NM_003273.3;TM7SF2,upstream_gene_variant,,ENST00000345348,NM_001277233.1;TM7SF2,upstream_gene_variant,,ENST00000525385,;TM7SF2,upstream_gene_variant,,ENST00000531321,;TM7SF2,upstream_gene_variant,,ENST00000534371,;TM7SF2,upstream_gene_variant,,ENST00000526809,;TM7SF2,upstream_gene_variant,,ENST00000529414,;TM7SF2,upstream_gene_variant,,ENST00000524986,;VPS51,downstream_gene_variant,,ENST00000528588,;VPS51,upstream_gene_variant,,ENST00000526856,;VPS51,upstream_gene_variant,,ENST00000530673,;TM7SF2,upstream_gene_variant,,ENST00000526085,;VPS51,downstream_gene_variant,,ENST00000526578,;TM7SF2,upstream_gene_variant,,ENST00000530750,;AP003068.9,downstream_gene_variant,,ENST00000528887,;VPS51,non_coding_transcript_exon_variant,,ENST00000527646,;TM7SF2,upstream_gene_variant,,ENST00000531029,;TM7SF2,upstream_gene_variant,,ENST00000533646,;VPS51,3_prime_UTR_variant,,ENST00000534124,;VPS51,3_prime_UTR_variant,,ENST00000533487,;TM7SF2,upstream_gene_variant,,ENST00000530650,;TM7SF2,upstream_gene_variant,,ENST00000529601,;TM7SF2,upstream_gene_variant,,ENST00000533766,;VPS51,upstream_gene_variant,,ENST00000534591,;TM7SF2,upstream_gene_variant,,ENST00000529292,;VPS51,upstream_gene_variant,,ENST00000533827,;TM7SF2,upstream_gene_variant,,ENST00000527851,;VPS51,downstream_gene_variant,,ENST00000533656,;TM7SF2,upstream_gene_variant,,ENST00000524690,;TM7SF2,upstream_gene_variant,,ENST00000529233,;TM7SF2,upstream_gene_variant,,ENST00000530892,;VPS51,upstream_gene_variant,,ENST00000531146,;TM7SF2,upstream_gene_variant,,ENST00000528026,;	T	ENST00000279281	Transcript	synonymous_variant	740/2714	648/2349	216/782	L	ctG/ctT		1		1	VPS51	HGNC	HGNC:1172	protein_coding	YES	CCDS8093.1	ENSP00000279281	Q9UID3		UPI000006D6D8	NM_013265.3			4/10		hmmpanther:PTHR15954,hmmpanther:PTHR15954:SF4,Superfamily_domains:SSF74788																	LOW	1	SNV	1			1										PASS		rs1266759247	.												T	2	4	19	65107945	65107945	G	T	1	0	0	0	0	0	0	0	1	17761	1306	46	2		2	VPS51	11	65107945	Silent	SNP	G	C3L-00604_TP	16053824	65107945	69978677	31	7119											
KDM2A	0	.	GRCh38	chr11	67246057	67246057	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaagagacacaagactttGagaagaaactcatggaatgc	18	7	10	6	0	1	5	1	2	0	4	1	8	1	6	0	1	2	0	0	1	5	1	novel		C3L-00604_TP	C3L-00604_NB	G	G																c.1906G>C	p.Glu636Gln	p.E636Q	ENST00000529006	15/21	244	231	13	193	193	0	strelka-varscan-mutect	KDM2A,missense_variant,p.Glu636Gln,ENST00000529006,NM_012308.2;KDM2A,missense_variant,p.Glu636Gln,ENST00000398645,;KDM2A,missense_variant,p.Glu619Gln,ENST00000308783,;KDM2A,missense_variant,p.Glu197Gln,ENST00000530342,NM_001256405.1;KDM2A,non_coding_transcript_exon_variant,,ENST00000526258,;KDM2A,non_coding_transcript_exon_variant,,ENST00000531696,;KDM2A,non_coding_transcript_exon_variant,,ENST00000525041,;KDM2A,non_coding_transcript_exon_variant,,ENST00000534486,;KDM2A,non_coding_transcript_exon_variant,,ENST00000529124,;KDM2A,downstream_gene_variant,,ENST00000517637,;	C	ENST00000529006	Transcript	missense_variant	2352/6967	1906/3489	636/1162	E/Q	Gag/Cag		1		1	KDM2A	HGNC	HGNC:13606	protein_coding	YES	CCDS44657.1	ENSP00000432786	Q9Y2K7	I3VM53	UPI00001678A9	NM_012308.2	tolerated(0.43)		15/21		Gene3D:3.30.40.10,Pfam_domain:PF16866,PROSITE_patterns:PS01359,PROSITE_profiles:PS50016,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF3,SMART_domains:SM00249,Superfamily_domains:SSF57903																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	19	67246057	67246057	G	C	1	0	0	0	0	1	0	0	0	8042	1291	45	4		4	KDM2A	11	67246057	Missense_Mutation	SNP	G	C3L-00604_TP	2138112	67246057	67840565	32	7120											
PRB4	0	.	GRCh38	chr12	11308587	11308587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggaggaggtgggggacgGtgggactggttgcctccttg	4	9	20	8	1	0	0	0	0	0	0	1	4	1	4	3	8	1	1	3	8	0	2	rs12369220		C3L-00604_TP	C3L-00604_NB	G	G																c.396C>A	p.His132Gln	p.H132Q	ENST00000279575	3/4	79	72	7	95	95	0	varscan-mutect	PRB4,missense_variant,p.His132Gln,ENST00000279575,NM_002723.4;PRB4,missense_variant,p.His132Gln,ENST00000535904,;PRB4,intron_variant,,ENST00000621732,NM_001261399.1;PRB4,intron_variant,,ENST00000445719,;	T	ENST00000279575	Transcript	missense_variant	433/916	396/744	132/247	H/Q	caC/caA	rs12369220	1		-1	PRB4	HGNC	HGNC:9340	protein_coding	YES	CCDS8641.1	ENSP00000279575		E9PAL0	UPI000013DBDC	NM_002723.4	tolerated_low_confidence(1)		3/4		hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF4,Pfam_domain:PF15240,Pfam_domain:PF15240,SMART_domains:SM01412,Prints_domain:PR01217																	MODERATE	1	SNV	5			1										PASS		rs12369220	.												T	3	4	19	11308587	11308587	G	T	1	0	0	0	0	1	0	0	0	12576	1252	44	2		2	PRB4	12	11308587	Missense_Mutation	SNP	G	C3L-00604_TP		11308587	121966722	33	7121											
KLHL42	0	.	GRCh38	chr12	27780501	27780501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcagcagctgcgcggcctCagcgcgccgggcctgcggct	3	5	17	16	6	1	0	1	0	0	0	1	0	1	0	3	3	6	4	3	3	0	0	novel		C3L-00604_TP	C3L-00604_NB	C	C																c.171C>T	p.=	p.L57L	ENST00000381271	1/3	113	88	25	146	145	1	varscan-mutect	KLHL42,synonymous_variant,p.=,ENST00000381271,NM_020782.1;KLHL42,upstream_gene_variant,,ENST00000543254,;RP11-860B13.1,splice_region_variant,,ENST00000545904,;KLHL42,synonymous_variant,p.=,ENST00000539176,;	T	ENST00000381271	Transcript	synonymous_variant	482/6703	171/1518	57/505	L	ctC/ctT		1		1	KLHL42	HGNC	HGNC:29252	protein_coding	YES	CCDS31763.1	ENSP00000370671	Q9P2K6	B2RNT7	UPI0000185FB1	NM_020782.1			1/3		PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF54,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Superfamily_domains:SSF54695																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	19	27780501	27780501	C	T	1	0	0	0	0	0	0	0	1	8260	813	29	3		3	KLHL42	12	27780501	Silent	SNP	C	C3L-00604_TP	16471914	27780501	105494808	34	7122											
PCED1B	0	.	GRCh38	chr12	47235156	47235156	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatagggcagtatacaaGgacctggtgcttctgctgca	9	10	13	9	0	1	0	0	0	1	0	1	1	1	1	1	3	5	6	1	3	4	4	novel		C3L-00604_TP	C3L-00604_NB	G	G																c.93G>C	p.Lys31Asn	p.K31N	ENST00000546455	4/4	24	18	6	23	23	0	strelka-mutect	PCED1B,missense_variant,p.Lys31Asn,ENST00000546455,NM_138371.2;PCED1B,missense_variant,p.Lys31Asn,ENST00000432328,NM_001281429.1;PCED1B,missense_variant,p.Lys31Asn,ENST00000549500,;PCED1B,missense_variant,p.Lys31Asn,ENST00000549630,;PCED1B,missense_variant,p.Lys31Asn,ENST00000551777,;PCED1B,intron_variant,,ENST00000548348,;RP11-493L12.3,downstream_gene_variant,,ENST00000547748,;	C	ENST00000546455	Transcript	missense_variant	824/2328	93/1299	31/432	K/N	aaG/aaC		1		1	PCED1B	HGNC	HGNC:28255	protein_coding	YES	CCDS8752.1	ENSP00000446688	Q96HM7	A0A024R115	UPI000006E8D2	NM_138371.2	deleterious(0)		4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR14469,hmmpanther:PTHR14469:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	19	47235156	47235156	G	C	1	0	0	0	0	1	0	0	0	11660	991	35	4		4	PCED1B	12	47235156	Missense_Mutation	SNP	G	C3L-00604_TP	19454655	47235156	86040153	35	7123											
CYP1A2	0	.	GRCh38	chr15	74751229	74751229	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgccctgttcaagcacaGcaagaaggggcctagagcca	11	5	14	11	0	1	2	1	0	0	2	1	2	1	2	3	3	4	3	3	3	4	2			C3L-00604_TP	C3L-00604_NB	G	G																c.872G>C	p.Ser291Thr	p.S291T	ENST00000343932	3/7	149	78	71	178	178	0	strelka-varscan-mutect	CYP1A2,missense_variant,p.Ser291Thr,ENST00000343932,NM_000761.4;	C	ENST00000343932	Transcript	missense_variant	935/2728	872/1551	291/516	S/T	aGc/aCc	COSM4561158	1		1	CYP1A2	HGNC	HGNC:2596	protein_coding	YES	CCDS32293.1	ENSP00000342007	P05177		UPI0000073775	NM_000761.4	tolerated(0.59)		3/7		hmmpanther:PTHR24299:SF7,hmmpanther:PTHR24299,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	19	74751229	74751229	G	C	1	0	0	0	0	1	0	0	0	3953	971	34	4		4	CYP1A2	15	74751229	Missense_Mutation	SNP	G	C3L-00604_TP		74751229	27239960	36	7124											
NPIPB4	0	.	GRCh38	chr16	21837665	21837665	+	Frame_Shift_Del	DEL	T	T	-																															gtggctggtggcccatcctgTtttttaaagtttcagctgtg																								novel		C3L-00604_TP	C3L-00604_NB	T	T																c.722delA	p.Asn241ThrfsTer16	p.N241Tfs*16	ENST00000415645	7/9	19	6	13	17	17	0	varindel-pindel	NPIPB4,frameshift_variant,p.Asn241ThrfsTer16,ENST00000415645,NM_130464.2;NPIPB4,frameshift_variant,p.Asn25ThrfsTer16,ENST00000537951,;NPIPB4,downstream_gene_variant,,ENST00000614197,;NPIPB4,non_coding_transcript_exon_variant,,ENST00000165086,;NPIPB4,downstream_gene_variant,,ENST00000541329,;NPIPB4,3_prime_UTR_variant,,ENST00000542133,;NPIPB4,non_coding_transcript_exon_variant,,ENST00000545367,;NPIPB4,downstream_gene_variant,,ENST00000543660,;RP11-645C24.6,downstream_gene_variant,,ENST00000622730,;	-	ENST00000415645	Transcript	frameshift_variant	762/3606	722/3417	241/1138	N/X	aAc/ac		1		-1	NPIPB4	HGNC	HGNC:41985	protein_coding	YES		ENSP00000404439	C9JG80		UPI00020651A0	NM_130464.2			7/9		Pfam_domain:PF06409,hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF0																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	19	21837665	21837665	T	-	1	0	1	0	1	0	0	0	0	10638	1725	60	0		0	NPIPB4	16	21837665	Frame_Shift_Del	DEL	T	C3L-00604_TP		21837665	68500680	37	7125											
HES7	0	.	GRCh38	chr17	8121749	8121749	+	Frame_Shift_Del	DEL	C	C	-																															cgcagcgcgggctagggtggCcctggtgcactggggggcgc																								rs778098548		C3L-00604_TP	C3L-00604_NB	C	C																c.515delG	p.Gly172AlafsTer202	p.G172Afs*202	ENST00000541682	4/4	75	68	7	69	69	0	sindel-varindel-pindel	HES7,frameshift_variant,p.Gly172AlafsTer202,ENST00000541682,NM_001165967.1;HES7,frameshift_variant,p.Gly167AlafsTer?,ENST00000317814,NM_032580.3;ALOXE3,upstream_gene_variant,,ENST00000380149,;ALOXE3,upstream_gene_variant,,ENST00000448843,NM_021628.2;ALOXE3,upstream_gene_variant,,ENST00000318227,NM_001165960.1;HES7,downstream_gene_variant,,ENST00000577735,;	-	ENST00000541682	Transcript	frameshift_variant	515/1674	515/693	172/230	G/X	gGc/gc	rs778098548	1		-1	HES7	HGNC	HGNC:15977	protein_coding	YES	CCDS54085.1	ENSP00000446205	Q9BYE0		UPI0000E59E09	NM_001165967.1			4/4		hmmpanther:PTHR10985:SF84,hmmpanther:PTHR10985																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	19	8121749	8121749	C	-	1	0	1	0	1	0	0	0	0	6955	739	26	0		0	HES7	17	8121749	Frame_Shift_Del	DEL	C	C3L-00604_TP		8121749	75135692	38	7126											
MUC16	0	.	GRCh38	chr19	8885763	8885763	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctagggcttttggggtcAgggtggtgggtgcagatggc	5	10	20	6	0	1	1	1	0	0	1	1	1	1	1	1	7	2	2	1	7	1	3	novel		C3L-00604_TP	C3L-00604_NB	A	A																c.41133T>C	p.=	p.P13711P	ENST00000397910	61/84	51	44	7	80	80	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;MUC16,synonymous_variant,p.=,ENST00000599436,;MUC16,synonymous_variant,p.=,ENST00000601404,;MUC16,synonymous_variant,p.=,ENST00000596768,;	G	ENST00000397910	Transcript	synonymous_variant	41337/43816	41133/43524	13711/14507	P	ccT/ccC		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			61/84		PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Gene3D:1ivzA00,Pfam_domain:PF01390,Superfamily_domains:0047452																	LOW	1	SNV	5			1										PASS		rs35789580	.												G	2	3	19	8885763	8885763	A	G	1	0	0	0	0	0	0	0	1	9972	175	7	5		5	MUC16	19	8885763	Silent	SNP	A	C3L-00604_TP		8885763	49731853	39	7127											
ZNF257	0	.	GRCh38	chr19	22088982	22088982	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattgcaaagcttttaactGgtcctcagctcttactaccc	10	14	5	12	0	2	0	1	0	1	0	3	0	3	0	2	1	6	3	2	1	5	6	novel		C3L-00604_TP	C3L-00604_NB	G	G																c.1232G>C	p.Trp411Ser	p.W411S	ENST00000594947	4/4	177	165	12	154	154	0	strelka-varscan-mutect	ZNF257,missense_variant,p.Trp411Ser,ENST00000594947,NM_033468.2;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,3_prime_UTR_variant,,ENST00000435820,NM_001316996.1;	C	ENST00000594947	Transcript	missense_variant	1376/3874	1232/1692	411/563	W/S	tGg/tCg		1		1	ZNF257	HGNC	HGNC:13498	protein_coding	YES	CCDS46030.1	ENSP00000470209	Q9Y2Q1		UPI0000E045CA	NM_033468.2	tolerated(0.41)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,Gene3D:3.30.160.60,SMART_domains:SM00355																	MODERATE	1	SNV	4			1										PASS		.	.												C	3	2	19	22088982	22088982	G	C	1	0	0	0	0	1	0	0	0	18376	1357	47	4		4	ZNF257	19	22088982	Missense_Mutation	SNP	G	C3L-00604_TP	13203219	22088982	36528634	40	7128											
TSHZ3	0	.	GRCh38	chr19	31277205	31277205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggagatgctggaaggagtgGaggattttgacgtgtggctc	8	10	18	5	2	0	2	0	1	0	1	1	7	0	6	0	6	1	2	0	6	1	2	novel		C3L-00604_TP	C3L-00604_NB	G	G																c.2588C>T	p.Ser863Phe	p.S863F	ENST00000240587	2/2	86	78	8	61	61	0	strelka-mutect	TSHZ3,missense_variant,p.Ser863Phe,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;	A	ENST00000240587	Transcript	missense_variant	2916/5176	2588/3246	863/1081	S/F	tCc/tTc		1		-1	TSHZ3	HGNC	HGNC:30700	protein_coding	YES	CCDS12421.2	ENSP00000240587	Q63HK5		UPI0000202000	NM_020856.2	deleterious(0)		2/2		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	19	31277205	31277205	G	A	1	0	0	0	0	1	0	0	0	17130	1174	41	3		3	TSHZ3	19	31277205	Missense_Mutation	SNP	G	C3L-00604_TP	9188223	31277205	27340411	41	7129											
NUMBL	0	.	GRCh38	chr19	40686966	40686966	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccacagggggctgggggCaggtgccgctcaggcctccg	4	4	18	15	2	1	0	1	0	0	0	2	0	2	0	5	6	1	3	5	6	0	0	novel		C3L-00604_TP	C3L-00604_NB	C	C																c.54G>T	p.=	p.L18L	ENST00000252891	2/10	90	75	15	80	80	0	strelka-varscan-mutect	NUMBL,synonymous_variant,p.=,ENST00000252891,NM_004756.4;NUMBL,5_prime_UTR_variant,,ENST00000598773,;NUMBL,5_prime_UTR_variant,,ENST00000595741,;NUMBL,5_prime_UTR_variant,,ENST00000600636,;NUMBL,intron_variant,,ENST00000598779,NM_001289979.1;NUMBL,intron_variant,,ENST00000540131,NM_001289980.1;ADCK4,downstream_gene_variant,,ENST00000324464,NM_024876.3;ADCK4,downstream_gene_variant,,ENST00000243583,NM_001142555.2;NUMBL,upstream_gene_variant,,ENST00000600967,;NUMBL,non_coding_transcript_exon_variant,,ENST00000599594,;ADCK4,downstream_gene_variant,,ENST00000593724,;NUMBL,upstream_gene_variant,,ENST00000598759,;NUMBL,upstream_gene_variant,,ENST00000599786,;NUMBL,upstream_gene_variant,,ENST00000593367,;	A	ENST00000252891	Transcript	synonymous_variant	222/3561	54/1830	18/609	L	ctG/ctT		1		-1	NUMBL	HGNC	HGNC:8061	protein_coding	YES	CCDS12561.1	ENSP00000252891	Q9Y6R0		UPI000003032B	NM_004756.4			2/10		PIRSF_domain:PIRSF017607,hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF32																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	19	40686966	40686966	C	A	1	0	0	0	0	0	0	0	1	10817	697	25	2		2	NUMBL	19	40686966	Silent	SNP	C	C3L-00604_TP	9409761	40686966	17930650	42	7130											
TPRX1	0	.	GRCh38	chr19	47802293	47802293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggcctgagattgggcctgGgatcgggcctgggttcgggc	3	8	20	10	3	0	1	0	1	0	1	2	3	0	2	3	6	0	1	3	6	0	2	rs75909117		C3L-00604_TP	C3L-00604_NB	G	G																c.718C>T	p.Pro240Ser	p.P240S	ENST00000322175	2/2	73	68	5	68	68	0	varscan-mutect	TPRX1,missense_variant,p.Pro337Ser,ENST00000535759,;TPRX1,missense_variant,p.Pro240Ser,ENST00000322175,NM_198479.2;TPRX1,missense_variant,p.Pro230Ser,ENST00000543508,;	A	ENST00000322175	Transcript	missense_variant	874/1924	718/1236	240/411	P/S	Cca/Tca	rs75909117	1		-1	TPRX1	HGNC	HGNC:32174	protein_coding	YES	CCDS33066.1	ENSP00000323455	Q8N7U7		UPI0000198666	NM_198479.2	tolerated(0.23)		2/2		hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF25,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs75909117	.												A	3	1	19	47802293	47802293	G	A	1	0	0	0	0	1	0	0	0	16903	1232	43	3		3	TPRX1	19	47802293	Missense_Mutation	SNP	G	C3L-00604_TP	7115327	47802293	10815323	43	7131											
RBM39	0	.	GRCh38	chr20	35705257	35705257	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtcaacataaatatgaaTaactcctccatgtttattac	14	16	3	8	0	1	1	1	1	0	0	3	1	3	1	2	0	3	1	2	0	8	7	novel		C3L-00604_TP	C3L-00604_NB	T	T																c.1381A>T	p.Ile461Phe	p.I461F	ENST00000253363	15/17	115	86	29	79	79	0	strelka-varscan-mutect	RBM39,missense_variant,p.Ile455Phe,ENST00000361162,NM_001323424.1,NM_004902.3;RBM39,missense_variant,p.Ile461Phe,ENST00000253363,NM_184234.2;RBM39,missense_variant,p.Ile439Phe,ENST00000528062,NM_001242600.1,NM_001242599.1;RBM39,missense_variant,p.Ile312Phe,ENST00000448303,;ROMO1,downstream_gene_variant,,ENST00000374078,NM_080748.2;ROMO1,downstream_gene_variant,,ENST00000336695,;ROMO1,downstream_gene_variant,,ENST00000374077,;ROMO1,downstream_gene_variant,,ENST00000374072,;ROMO1,downstream_gene_variant,,ENST00000397416,;RBM39,downstream_gene_variant,,ENST00000470563,;RBM39,3_prime_UTR_variant,,ENST00000403542,;RBM39,3_prime_UTR_variant,,ENST00000338163,;RBM39,3_prime_UTR_variant,,ENST00000429968,;RBM39,3_prime_UTR_variant,,ENST00000444878,;RBM39,3_prime_UTR_variant,,ENST00000476806,;RBM39,non_coding_transcript_exon_variant,,ENST00000463004,;RBM39,non_coding_transcript_exon_variant,,ENST00000461283,;RBM39,non_coding_transcript_exon_variant,,ENST00000492779,;RBM39,non_coding_transcript_exon_variant,,ENST00000482563,;RBM39,non_coding_transcript_exon_variant,,ENST00000465158,;RBM39,non_coding_transcript_exon_variant,,ENST00000495293,;RBM39,non_coding_transcript_exon_variant,,ENST00000496183,;RBM39,non_coding_transcript_exon_variant,,ENST00000490354,;RBM39,downstream_gene_variant,,ENST00000615771,;RBM39,downstream_gene_variant,,ENST00000475651,;RBM39,downstream_gene_variant,,ENST00000468086,;RBM39,downstream_gene_variant,,ENST00000471635,;	A	ENST00000253363	Transcript	missense_variant	1405/2488	1381/1593	461/530	I/F	Att/Ttt		1		-1	RBM39	HGNC	HGNC:15923	protein_coding	YES	CCDS13266.1	ENSP00000253363	Q14498		UPI0000134418	NM_184234.2	deleterious(0.01)		15/17		Gene3D:3.30.70.330,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01622																	MODERATE	1	SNV	1			1										PASS		rs1176144841	.												A	3	1	19	35705257	35705257	T	A	1	0	0	0	0	1	0	0	0	13299	1406	49	4		4	RBM39	20	35705257	Missense_Mutation	SNP	T	C3L-00604_TP		35705257	28738910	44	7132											
SLC5A3	0	.	GRCh38	chr21	34095545	34095545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaatacttgtccaagcGatttggtggccataggattc	9	12	11	9	1	0	1	0	1	0	0	2	3	1	2	3	3	2	0	3	3	4	5			C3L-00604_TP	C3L-00604_NB	G	G																c.347G>T	p.Arg116Leu	p.R116L	ENST00000381151	2/2	246	196	50	209	209	0	strelka-varscan-mutect	SLC5A3,missense_variant,p.Arg116Leu,ENST00000381151,NM_006933.6;MRPS6,intron_variant,,ENST00000399312,NM_032476.3;MRPS6,intron_variant,,ENST00000477091,;MRPS6,intron_variant,,ENST00000488492,;AP000320.7,intron_variant,,ENST00000362077,;	T	ENST00000381151	Transcript	missense_variant	859/11576	347/2157	116/718	R/L	cGa/cTa	COSM5016665	1		1	SLC5A3	HGNC	HGNC:11038	protein_coding	YES	CCDS33549.1	ENSP00000370543	P53794		UPI0000465182	NM_006933.6	deleterious(0)		2/2		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF150,TIGRFAM_domain:TIGR00813											1						MODERATE	1	SNV	1		1	1										PASS		rs1408574398	.												T	3	4	19	34095545	34095545	G	T	1	0	0	0	0	1	0	0	0	14949	1058	37	1		1	SLC5A3	21	34095545	Missense_Mutation	SNP	G	C3L-00604_TP		34095545	12614438	45	7133											
KRTAP10-4	0	.	GRCh38	chr21	44574746	44574746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaagcctgtgagctgtgtgCctgtttgctctggggcttcc	3	13	14	11	0	1	1	0	1	1	0	2	1	2	1	3	2	4	5	3	2	1	2	novel		C3L-00604_TP	C3L-00604_NB	C	C																c.988C>T	p.Pro330Ser	p.P330S	ENST00000400374	1/1	611	537	74	495	494	1	strelka-varscan-mutect	KRTAP10-4,missense_variant,p.Pro330Ser,ENST00000400374,NM_198687.2;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,upstream_gene_variant,,ENST00000397916,;KRTAP10-5,downstream_gene_variant,,ENST00000400372,NM_198694.3;	T	ENST00000400374	Transcript	missense_variant	1018/1643	988/1206	330/401	P/S	Cct/Tct		1		1	KRTAP10-4	HGNC	HGNC:20521	protein_coding	YES	CCDS42957.1	ENSP00000383225	P60372		UPI00003D4D6E	NM_198687.2	deleterious(0.04)		1/1		Pfam_domain:PF13885,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												T	3	4	19	44574746	44574746	C	T	1	0	0	0	0	1	0	0	0	8394	739	26	3		3	KRTAP10-4	21	44574746	Missense_Mutation	SNP	C	C3L-00604_TP	10479201	44574746	2135237	46	7134											
MICAL3	0	.	GRCh38	chr22	17895311	17895311	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccggaggaagttgacgttGatattgggataccgagtgac	10	9	16	6	3	0	3	0	3	0	0	0	7	0	6	2	4	1	2	2	4	3	5	novel		C3L-00604_TP	C3L-00604_NB	G	G																c.1422C>T	p.=	p.I474I	ENST00000441493	10/32	215	138	77	185	185	0	strelka-varscan-mutect	MICAL3,synonymous_variant,p.=,ENST00000441493,NM_015241.2;MICAL3,synonymous_variant,p.=,ENST00000414725,;MICAL3,synonymous_variant,p.=,ENST00000585038,NM_001136004.3;MICAL3,synonymous_variant,p.=,ENST00000400561,NM_001122731.2;MICAL3,synonymous_variant,p.=,ENST00000383094,;MICAL3,upstream_gene_variant,,ENST00000461307,;MICAL3,3_prime_UTR_variant,,ENST00000495076,;	A	ENST00000441493	Transcript	synonymous_variant	1775/9445	1422/6009	474/2002	I	atC/atT		1		-1	MICAL3	HGNC	HGNC:24694	protein_coding	YES	CCDS46659.1	ENSP00000416015	Q7RTP6		UPI0001823FDE	NM_015241.2			10/32		Superfamily_domains:SSF47576																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	19	17895311	17895311	G	A	1	0	0	0	0	0	0	0	1	9528	1280	45	3		3	MICAL3	22	17895311	Silent	SNP	G	C3L-00604_TP		17895311	32923157	47	7135											
MAGEB5	0	.	GRCh38	chrX	26217518	26217518	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgaagattgtcaacccaAgataccaaaaccagtttgct	14	10	7	10	0	1	3	1	1	0	2	1	3	1	3	3	0	5	3	3	0	6	3	novel		C3L-00604_TP	C3L-00604_NB	A	A																c.217A>G	p.Arg73Gly	p.R73G	ENST00000602297	2/2	140	126	14	128	128	0	strelka-varscan-mutect	MAGEB5,missense_variant,p.Arg73Gly,ENST00000602297,NM_001271752.1;	G	ENST00000602297	Transcript	missense_variant	464/1216	217/828	73/275	R/G	Aga/Gga		1		1	MAGEB5	HGNC	HGNC:23795	protein_coding	YES	CCDS65233.1	ENSP00000473493	Q9BZ81		UPI0000237754	NM_001271752.1	deleterious(0.02)		2/2		Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF35,SMART_domains:SM01373																	MODERATE	1	SNV	3			1										PASS		rs1197668527	.												G	3	3	19	26217518	26217518	A	G	1	0	0	0	0	1	0	0	0	9095	64	3	5		5	MAGEB5	23	26217518	Missense_Mutation	SNP	A	C3L-00604_TP		26217518	129823377	48	7136											
MAGEC2	0	.	GRCh38	chrX	142203281	142203281	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgccctttatgaagatcAcactcagaataataatcagg	15	11	7	8	0	3	3	3	1	0	2	3	3	3	3	1	1	1	1	1	1	5	5			C3L-00604_TP	C3L-00604_NB	A	A																c.707T>A	p.Val236Glu	p.V236E	ENST00000247452	3/3	193	172	21	171	171	0	strelka-varscan-mutect	MAGEC2,missense_variant,p.Val236Glu,ENST00000247452,NM_016249.3;	T	ENST00000247452	Transcript	missense_variant	1055/1991	707/1122	236/373	V/E	gTg/gAg	COSM3379432	1		-1	MAGEC2	HGNC	HGNC:13574	protein_coding	YES	CCDS14678.1	ENSP00000354660	Q9UBF1		UPI000012F059	NM_016249.3	deleterious(0)		3/3		Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29,SMART_domains:SM01373											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	19	142203281	142203281	A	T	1	0	0	0	0	1	0	0	0	9099	159	6	4		4	MAGEC2	23	142203281	Missense_Mutation	SNP	A	C3L-00604_TP	115985763	142203281	13837614	49	7137											
PIK3CD	0	.	GRCh38	chr1	9721539	9721539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaattcctgctggaccGggccctggccaaccgcaaga	10	5	11	15	2	0	1	0	0	0	1	1	3	1	2	6	3	2	2	6	3	3	1	rs748760424		C3L-00893_TP	C3L-00893_NB	G	G																c.1907G>A	p.Arg636Gln	p.R636Q	ENST00000377346	15/24	611	451	160	399	399	0	strelka-varscan-mutect	PIK3CD,missense_variant,p.Arg660Gln,ENST00000536656,;PIK3CD,missense_variant,p.Arg660Gln,ENST00000628140,;PIK3CD,missense_variant,p.Arg636Gln,ENST00000377346,NM_005026.3;PIK3CD,missense_variant,p.Arg660Gln,ENST00000361110,;PIK3CD,missense_variant,p.Arg660Gln,ENST00000543390,;PIK3CD,downstream_gene_variant,,ENST00000479223,;	A	ENST00000377346	Transcript	missense_variant	2102/5203	1907/3135	636/1044	R/Q	cGg/cAg	rs748760424	1		1	PIK3CD	HGNC	HGNC:8977	protein_coding	YES	CCDS104.1	ENSP00000366563	O00329		UPI000013E807	NM_005026.3	deleterious(0)		15/24		PROSITE_profiles:PS51545,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF35,Gene3D:1.25.40.70,Pfam_domain:PF00613,SMART_domains:SM00145,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs748760424	.												A	3	1	20	9721539	9721539	G	A	1	0	0	0	0	1	0	0	0	12010	1116	39	1		1	PIK3CD	1	9721539	Missense_Mutation	SNP	G	C3L-00893_TP		9721539	239234883	1	7138											
EPHA8	0	.	GRCh38	chr1	22597345	22597345	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctgcctctgcatcaccCcccgggaaagctcccagagc	7	7	8	19	1	2	1	1	0	1	1	4	2	4	2	6	1	4	2	6	1	1	1	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.1799C>A	p.Pro600His	p.P600H	ENST00000166244	10/17	120	110	10	59	59	0	strelka-varscan-mutect	EPHA8,missense_variant,p.Pro600His,ENST00000166244,NM_020526.3;	A	ENST00000166244	Transcript	missense_variant	1871/4943	1799/3018	600/1005	P/H	cCc/cAc		1		1	EPHA8	HGNC	HGNC:3391	protein_coding	YES	CCDS225.1	ENSP00000166244	P29322		UPI000012A07B	NM_020526.3	tolerated(0.08)		10/17		Low_complexity_(Seg):seg,hmmpanther:PTHR24416:SF339,hmmpanther:PTHR24416,Pfam_domain:PF14575,PIRSF_domain:PIRSF000666																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	20	22597345	22597345	C	A	1	0	0	0	0	1	0	0	0	5020	623	22	2		2	EPHA8	1	22597345	Missense_Mutation	SNP	C	C3L-00893_TP	12875806	22597345	226359077	2	7139											
GRIK3	0	.	GRCh38	chr1	36817213	36817213	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggaagagatgatgatgagCgtgaagaaccaccagatgcc	15	6	13	7	1	0	7	0	4	0	3	0	9	0	8	3	1	3	0	3	1	4	1	rs144959883		C3L-00893_TP	C3L-00893_NB	C	C																c.1938G>T	p.=	p.T646T	ENST00000373091	13/16	364	288	76	303	302	1	strelka-varscan-mutect	GRIK3,synonymous_variant,p.=,ENST00000373091,NM_000831.3;GRIK3,synonymous_variant,p.=,ENST00000373093,;	A	ENST00000373091	Transcript	synonymous_variant	1955/9101	1938/2760	646/919	T	acG/acT	rs144959883	1		-1	GRIK3	HGNC	HGNC:4581	protein_coding	YES	CCDS416.1	ENSP00000362183	Q13003		UPI000013E311	NM_000831.3			13/16		Gene3D:1.10.287.70,Pfam_domain:PF00060,Prints_domain:PR00177,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF174,SMART_domains:SM00079,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs144959883	.												A	2	1	20	36817213	36817213	C	A	1	0	0	0	0	0	0	0	1	6657	755	27	1		1	GRIK3	1	36817213	Silent	SNP	C	C3L-00893_TP	14219868	36817213	212139209	3	7140											
CACNA1S	0	.	GRCh38	chr1	201077896	201077896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacttggtgatcttgaagatCctcaggaggcggatgcagcg	9	9	14	9	2	2	3	1	2	1	1	3	5	3	5	1	4	2	1	1	4	1	2	rs372105058		C3L-00893_TP	C3L-00893_NB	C	C																c.1602G>T	p.Arg534Ser	p.R534S	ENST00000362061	11/44	289	248	41	111	111	0	strelka-varscan-mutect	CACNA1S,missense_variant,p.Arg534Ser,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Arg534Ser,ENST00000367338,;	A	ENST00000362061	Transcript	missense_variant	1829/6166	1602/5622	534/1873	R/S	agG/agT	rs372105058,COSM5235917	1		-1	CACNA1S	HGNC	HGNC:1397	protein_coding	YES	CCDS1407.1	ENSP00000355192	Q13698		UPI000020471D	NM_000069.2	deleterious(0.01)		11/44		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Superfamily_domains:SSF81324											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs372105058	.												A	3	1	20	201077896	201077896	C	A	1	0	0	0	0	1	0	0	0	2235	854	30	2		2	CACNA1S	1	201077896	Missense_Mutation	SNP	C	C3L-00893_TP	164260683	201077896	47878526	4	7141											
IGFN1	0	.	GRCh38	chr1	201226957	201226957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggttcctggtgggcctgcGgtcccacctgctgccccagg	2	8	14	17	2	0	0	0	0	0	0	2	0	2	0	7	5	3	2	7	5	0	1	rs371094909		C3L-00893_TP	C3L-00893_NB	G	G																c.10862G>A	p.Arg3621Gln	p.R3621Q	ENST00000335211	23/24	306	285	21	132	132	0	strelka-varscan-mutect	IGFN1,missense_variant,p.Arg3621Gln,ENST00000335211,NM_001164586.1;IGFN1,missense_variant,p.Arg1164Gln,ENST00000295591,;IGFN1,missense_variant,p.Arg1039Gln,ENST00000412892,;RP11-567E21.3,upstream_gene_variant,,ENST00000453155,;IGFN1,3_prime_UTR_variant,,ENST00000437879,;IGFN1,non_coding_transcript_exon_variant,,ENST00000473483,;	A	ENST00000335211	Transcript	missense_variant	10992/11810	10862/11127	3621/3708	R/Q	cGg/cAg	rs371094909	1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1	deleterious(0)		23/24		PROSITE_profiles:PS50835,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		rs371094909	.												A	3	1	20	201226957	201226957	G	A	1	0	0	0	0	1	0	0	0	7497	1116	39	1		1	IGFN1	1	201226957	Missense_Mutation	SNP	G	C3L-00893_TP	149061	201226957	47729465	5	7142											
RYR2	0	.	GRCh38	chr1	237631489	237631489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagggcactggggatgcAcgagactgtgatggaggtca	10	7	17	7	1	1	3	1	2	0	1	1	6	1	5	0	5	1	2	0	5	0	0	novel		C3L-00893_TP	C3L-00893_NB	A	A																c.6503A>G	p.His2168Arg	p.H2168R	ENST00000366574	42/105	316	282	34	242	242	0	strelka-varscan	RYR2,missense_variant,p.His2168Arg,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.His2152Arg,ENST00000360064,;	G	ENST00000366574	Transcript	missense_variant	6820/16562	6503/14904	2168/4967	H/R	cAc/cGc		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		42/105		Superfamily_domains:0048280,Gene3D:1n4kA02,Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	20	237631489	237631489	A	G	1	0	0	0	0	1	0	0	0	14029	159	6	5		5	RYR2	1	237631489	Missense_Mutation	SNP	A	C3L-00893_TP	36404532	237631489	11324933	6	7143											
OR2G3	0	.	GRCh38	chr1	247605595	247605595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccctggagggatgggattgGgcaatgagagttccctaatg	9	9	15	8	0	0	1	0	1	0	1	1	5	1	4	3	4	0	2	3	4	2	3	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.10G>T	p.Gly4Cys	p.G4C	ENST00000320002	1/1	100	85	15	50	50	0	strelka-varscan	OR2G3,missense_variant,p.Gly4Cys,ENST00000320002,NM_001001914.1;U6,downstream_gene_variant,,ENST00000637707,;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;	T	ENST00000320002	Transcript	missense_variant	10/930	10/930	4/309	G/C	Ggc/Tgc		1		1	OR2G3	HGNC	HGNC:15008	protein_coding	YES	CCDS31093.1	ENSP00000326301	Q8NGZ4	A0A126GVX0	UPI0000041CD9	NM_001001914.1	deleterious(0.03)		1/1		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF300,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												T	3	4	20	247605595	247605595	G	T	1	0	0	0	0	1	0	0	0	11077	1232	43	2		2	OR2G3	1	247605595	Missense_Mutation	SNP	G	C3L-00893_TP	9974106	247605595	1350827	7	7144											
OR14I1	0	.	GRCh38	chr1	248682205	248682205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccccaccagcactgccaGataaatcagcagaaacagcc	14	5	7	15	0	1	2	1	0	0	2	2	2	2	2	5	0	5	3	5	0	3	2	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.100C>A	p.Leu34Met	p.L34M	ENST00000342623	1/1	252	216	36	117	117	0	strelka-varscan	OR14I1,missense_variant,p.Leu34Met,ENST00000342623,NM_001004734.1;	T	ENST00000342623	Transcript	missense_variant	100/936	100/936	34/311	L/M	Ctg/Atg		1		-1	OR14I1	HGNC	HGNC:19575	protein_coding	YES	CCDS31125.1	ENSP00000339726	A6ND48		UPI0000199BC9	NM_001004734.1	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF316,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	20	248682205	248682205	G	T	1	0	0	0	0	1	0	0	0	11024	933	33	2		2	OR14I1	1	248682205	Missense_Mutation	SNP	G	C3L-00893_TP	1076610	248682205	274217	8	7145											
HADHA	0	.	GRCh38	chr2	26191251	26191251	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaggcatgaggcctgctCactggtagaacttcttgtta	9	11	12	9	1	2	2	1	1	1	1	2	3	2	2	1	3	3	4	1	3	3	4	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.2291G>T	p.Ter764LeuextTer31	p.*764Lext*31	ENST00000380649	20/20	539	402	137	338	338	0	strelka-varscan-mutect	HADHA,stop_lost,p.Ter764LeuextTer31,ENST00000380649,NM_000182.4;GAREM2,downstream_gene_variant,,ENST00000407684,NM_001191033.1;GAREM2,downstream_gene_variant,,ENST00000401533,NM_001168241.1;HADHA,downstream_gene_variant,,ENST00000492433,;GAREM2,downstream_gene_variant,,ENST00000496070,;	A	ENST00000380649	Transcript	stop_lost	2421/3037	2291/2292	764/763	*/L	tGa/tTa		1		-1	HADHA	HGNC	HGNC:4801	protein_coding	YES	CCDS1721.1	ENSP00000370023	P40939	E9KL44	UPI0000129B6B	NM_000182.4			20/20																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	20	26191251	26191251	C	A	1	0	0	0	0	0	0	0	0	6829	837	29	2		2	HADHA	2	26191251	Nonstop_Mutation	SNP	C	C3L-00893_TP		26191251	216002278	9	7146											
PLB1	0	.	GRCh38	chr2	28540375	28540375	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacctgcagccctgcaccAgagccctgtaattgctcaga	10	9	8	14	0	1	2	1	0	0	2	1	2	1	2	4	0	6	4	4	0	2	3	novel		C3L-00893_TP	C3L-00893_NB	A	A																c.708A>G	p.=	p.P236P	ENST00000327757	12/58	293	212	81	169	168	1	strelka-varscan-mutect	PLB1,synonymous_variant,p.=,ENST00000422425,NM_001170585.1;PLB1,synonymous_variant,p.=,ENST00000327757,NM_153021.4;PLB1,synonymous_variant,p.=,ENST00000404858,;PLB1,downstream_gene_variant,,ENST00000416713,;	G	ENST00000327757	Transcript	synonymous_variant	752/5107	708/4377	236/1458	P	ccA/ccG		1		1	PLB1	HGNC	HGNC:30041	protein_coding	YES	CCDS33168.1	ENSP00000330442	Q6P1J6		UPI0000D6117C	NM_153021.4			12/58		hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF31																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	20	28540375	28540375	A	G	1	0	0	0	0	0	0	0	1	12118	175	7	5		5	PLB1	2	28540375	Silent	SNP	A	C3L-00893_TP	2349124	28540375	213653154	10	7147											
CEP68	0	.	GRCh38	chr2	65082632	65082632	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttggcctctctggacaTgctggctggctgcaccctta	5	13	10	13	0	2	0	0	0	2	0	3	1	2	1	2	4	2	4	2	4	2	3	rs752528667		C3L-00893_TP	C3L-00893_NB	T	T																c.2201T>C	p.Met734Thr	p.M734T	ENST00000377990	6/7	140	114	26	110	110	0	strelka-varscan	CEP68,missense_variant,p.Met734Thr,ENST00000377990,NM_001319100.1,NM_015147.2;CEP68,missense_variant,p.Met597Thr,ENST00000260569,NM_001319101.1;RAB1A,downstream_gene_variant,,ENST00000409784,NM_004161.4;RAB1A,downstream_gene_variant,,ENST00000409892,;RAB1A,intron_variant,,ENST00000494188,;	C	ENST00000377990	Transcript	missense_variant	2404/5847	2201/2274	734/757	M/T	aTg/aCg	rs752528667	1		1	CEP68	HGNC	HGNC:29076	protein_coding	YES	CCDS1880.2	ENSP00000367229	Q76N32		UPI0000505465	NM_001319100.1,NM_015147.2	tolerated(0.68)		6/7		hmmpanther:PTHR14514																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	20	65082632	65082632	T	C	1	0	0	0	0	1	0	0	0	2979	1464	51	5		5	CEP68	2	65082632	Missense_Mutation	SNP	T	C3L-00893_TP	36542257	65082632	177110897	11	7148											
RAB11FIP5	0	.	GRCh38	chr2	73075558	73075558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggggatctgcagcagcgtgGgtgaggtctccatgatccgc	6	8	17	10	2	2	2	0	2	2	0	4	3	3	3	2	4	3	2	2	4	0	0	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.1925C>T	p.Pro642Leu	p.P642L	ENST00000258098	5/5	273	254	19	203	203	0	strelka-varscan	RAB11FIP5,missense_variant,p.Pro1313Leu,ENST00000486777,;RAB11FIP5,missense_variant,p.Pro642Leu,ENST00000258098,NM_015470.2;SFXN5,upstream_gene_variant,,ENST00000272433,NM_144579.2;SFXN5,upstream_gene_variant,,ENST00000411783,;SFXN5,upstream_gene_variant,,ENST00000410065,;SFXN5,upstream_gene_variant,,ENST00000442582,;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000493523,;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000482554,;SFXN5,intron_variant,,ENST00000485057,;SFXN5,upstream_gene_variant,,ENST00000479293,;SFXN5,upstream_gene_variant,,ENST00000472259,;SFXN5,upstream_gene_variant,,ENST00000416579,;SFXN5,upstream_gene_variant,,ENST00000497144,;SFXN5,upstream_gene_variant,,ENST00000475630,;SFXN5,upstream_gene_variant,,ENST00000484123,;SFXN5,upstream_gene_variant,,ENST00000450185,;	A	ENST00000258098	Transcript	missense_variant	2166/4342	1925/1962	642/653	P/L	cCc/cTc		1		-1	RAB11FIP5	HGNC	HGNC:24845	protein_coding	YES	CCDS1923.1	ENSP00000258098	Q9BXF6		UPI000007079C	NM_015470.2	deleterious(0)		5/5		PROSITE_profiles:PS51511,hmmpanther:PTHR15746:SF14,hmmpanther:PTHR15746,Pfam_domain:PF09457,Superfamily_domains:SSF144270																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	20	73075558	73075558	G	A	1	0	0	0	0	1	0	0	0	13055	1232	43	3		3	RAB11FIP5	2	73075558	Missense_Mutation	SNP	G	C3L-00893_TP	7992926	73075558	169117971	12	7149											
SFTPB	0	.	GRCh38	chr2	85668203	85668203	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcacctctgcagcctgggTaccctgcttggtgcatggcc	4	10	13	14	0	1	0	0	0	1	0	1	0	1	0	4	4	5	5	4	4	1	2	novel		C3L-00893_TP	C3L-00893_NB	T	T																c.17A>T	p.Tyr6Phe	p.Y6F	ENST00000409383	2/12	229	174	55	167	167	0	strelka-varscan	SFTPB,missense_variant,p.Tyr6Phe,ENST00000409383,NM_198843.2,NM_000542.3;SFTPB,5_prime_UTR_variant,,ENST00000393822,;SFTPB,5_prime_UTR_variant,,ENST00000519937,;SFTPB,upstream_gene_variant,,ENST00000428225,;SFTPB,upstream_gene_variant,,ENST00000494165,;SFTPB,upstream_gene_variant,,ENST00000473692,;SFTPB,upstream_gene_variant,,ENST00000491167,;	A	ENST00000409383	Transcript	missense_variant	117/1867	17/1182	6/393	Y/F	tAc/tTc		1		-1	SFTPB	HGNC	HGNC:10801	protein_coding	YES	CCDS1983.2	ENSP00000386346		D6W5L6	UPI0000421A06	NM_198843.2,NM_000542.3	tolerated_low_confidence(0.35)		2/12		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	20	85668203	85668203	T	A	1	0	0	0	0	1	0	0	0	14451	1638	57	4		4	SFTPB	2	85668203	Missense_Mutation	SNP	T	C3L-00893_TP	12592645	85668203	156525326	13	7150											
WDR33	0	.	GRCh38	chr2	127765182	127765182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattatcattacctgtaataTtgtttcaaaattgaaagtga	15	16	6	4	0	2	2	2	2	0	0	2	3	2	2	1	0	1	2	1	0	7	7	novel		C3L-00893_TP	C3L-00893_NB	T	T																c.466A>G	p.Ile156Val	p.I156V	ENST00000322313	5/22	144	127	17	121	121	0	strelka-varscan	WDR33,missense_variant,p.Ile156Val,ENST00000322313,NM_018383.4;WDR33,missense_variant,p.Ile156Val,ENST00000393006,NM_001006623.2;WDR33,missense_variant,p.Ile156Val,ENST00000409658,NM_001006622.2;WDR33,missense_variant,p.Ile78Val,ENST00000436787,;WDR33,downstream_gene_variant,,ENST00000408998,;	C	ENST00000322313	Transcript	missense_variant	625/9471	466/4011	156/1336	I/V	Ata/Gta		1		-1	WDR33	HGNC	HGNC:25651	protein_coding	YES	CCDS2150.1	ENSP00000325377	Q9C0J8		UPI000013D032	NM_018383.4	deleterious(0.02)		5/22		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR22836,hmmpanther:PTHR22836:SF0,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	20	127765182	127765182	T	C	1	0	0	0	0	1	0	0	0	17847	1493	52	5		5	WDR33	2	127765182	Missense_Mutation	SNP	T	C3L-00893_TP	42096979	127765182	114428347	14	7151											
FRZB	0	.	GRCh38	chr2	182838553	182838553	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttagaatctccttcaccTccactactgcagtcacatca	11	12	3	15	0	4	1	3	0	1	1	6	1	5	1	3	0	2	1	3	0	3	4	novel		C3L-00893_TP	C3L-00893_NB	T	T																c.653A>T	p.Glu218Val	p.E218V	ENST00000295113	4/6	347	325	22	233	233	0	strelka-varscan	FRZB,missense_variant,p.Glu218Val,ENST00000295113,NM_001463.3;	A	ENST00000295113	Transcript	missense_variant	1263/3162	653/978	218/325	E/V	gAg/gTg		1		-1	FRZB	HGNC	HGNC:3959	protein_coding	YES	CCDS2286.1	ENSP00000295113	Q92765	D9ZGF6	UPI0000051054	NM_001463.3	deleterious(0)		4/6		Gene3D:2.40.50.120,Pfam_domain:PF01759,PROSITE_profiles:PS50189,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF97,SMART_domains:SM00643,Superfamily_domains:SSF50242																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	20	182838553	182838553	T	A	1	0	0	0	0	1	0	0	0	5937	1551	54	4		4	FRZB	2	182838553	Missense_Mutation	SNP	T	C3L-00893_TP	55073371	182838553	59354976	15	7152											
SPEG	0	.	GRCh38	chr2	219451144	219451144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgtccggcagagtcttcgGatgactcctacgtgtccgct	5	12	12	12	4	1	2	0	1	1	1	5	3	4	3	3	2	1	2	3	2	1	2	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.2122G>T	p.Asp708Tyr	p.D708Y	ENST00000312358	5/41	99	76	23	76	76	0	strelka-varscan-mutect	SPEG,missense_variant,p.Asp708Tyr,ENST00000312358,NM_005876.4;SPEG,missense_variant,p.Asp604Tyr,ENST00000396698,;SPEG,downstream_gene_variant,,ENST00000431523,;SPEG,downstream_gene_variant,,ENST00000435853,;SPEG,downstream_gene_variant,,ENST00000451076,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,non_coding_transcript_exon_variant,,ENST00000462545,;SPEG,downstream_gene_variant,,ENST00000491248,;SPEG,upstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000497065,;SPEG,missense_variant,p.Gly43Val,ENST00000409595,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,downstream_gene_variant,,ENST00000452101,;	T	ENST00000312358	Transcript	missense_variant	2254/10782	2122/9804	708/3267	D/Y	Gat/Tat		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	deleterious(0)		5/41																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	20	219451144	219451144	G	T	1	0	0	0	0	1	0	0	0	15387	1174	41	2		2	SPEG	2	219451144	Missense_Mutation	SNP	G	C3L-00893_TP	36612591	219451144	22742385	16	7153											
TGM4	0	.	GRCh38	chr3	44901550	44901550	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgagaaaggccagggcgtGctcattgggaattggactgg	9	10	16	6	1	1	1	1	1	0	1	1	4	1	3	1	5	1	1	1	5	2	3	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.684G>T	p.=	p.V228V	ENST00000296125	7/14	102	60	42	100	100	0	varscan-mutect	TGM4,synonymous_variant,p.=,ENST00000296125,NM_003241.3;RP11-272D20.2,downstream_gene_variant,,ENST00000427258,;TGM4,3_prime_UTR_variant,,ENST00000422219,;TGM4,upstream_gene_variant,,ENST00000459830,;TGM4,downstream_gene_variant,,ENST00000495844,;	T	ENST00000296125	Transcript	synonymous_variant	752/3388	684/2055	228/684	V	gtG/gtT		1		1	TGM4	HGNC	HGNC:11780	protein_coding	YES	CCDS2723.1	ENSP00000296125	P49221		UPI0000136CCD	NM_003241.3			7/14		hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF45,Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF54001																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	20	44901550	44901550	G	T	1	0	0	0	0	0	0	0	1	16265	1306	46	2		2	TGM4	3	44901550	Silent	SNP	G	C3L-00893_TP		44901550	153394009	17	7154											
OR5H14	0	.	GRCh38	chr3	98149905	98149905	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttctgtaactccaacataAtacaacacttttactgtgac	13	13	3	12	0	1	1	0	1	1	0	2	1	2	1	2	0	5	1	2	0	6	6	novel		C3L-00893_TP	C3L-00893_NB	A	A																c.520A>G	p.Ile174Val	p.I174V	ENST00000437310	1/1	146	136	10	88	87	1	varscan-mutect	OR5H14,missense_variant,p.Ile174Val,ENST00000437310,NM_001005514.1;RP11-343D2.11,upstream_gene_variant,,ENST00000508964,;	G	ENST00000437310	Transcript	missense_variant	580/1080	520/933	174/310	I/V	Ata/Gta		1		1	OR5H14	HGNC	HGNC:31286	protein_coding	YES	CCDS33798.1	ENSP00000401706	A6NHG9		UPI0000197F5D	NM_001005514.1	tolerated(0.11)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF375,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs1306803859	.												G	3	3	20	98149905	98149905	A	G	1	0	0	0	0	1	0	0	0	11230	101	4	5		5	OR5H14	3	98149905	Missense_Mutation	SNP	A	C3L-00893_TP	53248355	98149905	100145654	18	7155											
BOC	0	.	GRCh38	chr3	113279879	113279879	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgggggagagcgagccCagcgccccctctcggcccta	6	5	14	16	3	1	1	0	0	1	1	2	3	1	1	4	3	4	1	4	3	1	1	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.2079C>T	p.=	p.P693P	ENST00000273395	13/20	145	94	51	104	104	0	strelka-varscan-mutect	BOC,synonymous_variant,p.=,ENST00000495514,NM_033254.3;BOC,synonymous_variant,p.=,ENST00000355385,;BOC,synonymous_variant,p.=,ENST00000273395,NM_001301861.1;BOC,upstream_gene_variant,,ENST00000473008,;BOC,downstream_gene_variant,,ENST00000497495,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;BOC,non_coding_transcript_exon_variant,,ENST00000463971,;BOC,upstream_gene_variant,,ENST00000488486,;	T	ENST00000273395	Transcript	synonymous_variant	2418/4276	2079/3348	693/1115	P	ccC/ccT		1		1	BOC	HGNC	HGNC:17173	protein_coding	YES	CCDS77788.1	ENSP00000273395	Q9BWV1		UPI0000D61B53	NM_001301861.1			13/20		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF11,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	20	113279879	113279879	C	T	1	0	0	0	0	0	0	0	1	1637	581	21	3		3	BOC	3	113279879	Silent	SNP	C	C3L-00893_TP	15129974	113279879	85015680	19	7156											
HEG1	0	.	GRCh38	chr3	125012821	125012821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttttgctgatgtgggtaCactggtcaaagggatcaatc	9	14	11	7	0	3	1	2	1	1	0	4	2	3	2	0	3	2	2	0	3	3	4	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.2758G>T	p.Val920Leu	p.V920L	ENST00000311127	6/17	349	324	25	257	257	0	strelka-varscan-mutect	HEG1,missense_variant,p.Val920Leu,ENST00000311127,NM_020733.1;HEG1,downstream_gene_variant,,ENST00000477536,;HEG1,upstream_gene_variant,,ENST00000488654,;	A	ENST00000311127	Transcript	missense_variant	2826/9156	2758/4146	920/1381	V/L	Gta/Tta		1		-1	HEG1	HGNC	HGNC:29227	protein_coding	YES	CCDS46898.1	ENSP00000311502	Q9ULI3		UPI00006C069B	NM_020733.1	tolerated(0.11)		6/17		hmmpanther:PTHR24037:SF3,hmmpanther:PTHR24037																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	20	125012821	125012821	C	A	1	0	0	0	0	1	0	0	0	6926	478	17	2		2	HEG1	3	125012821	Missense_Mutation	SNP	C	C3L-00893_TP	11732942	125012821	73282738	20	7157											
EVC	0	.	GRCh38	chr4	5748201	5748201	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcactttcttgtggaccaGtttaagtgttccagctccaa	9	13	8	11	0	1	0	0	0	1	0	3	1	3	1	3	1	2	4	3	1	2	5	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.993G>A	p.=	p.Q331Q	ENST00000264956	8/21	667	610	57	472	472	0	strelka-varscan-mutect	EVC,synonymous_variant,p.=,ENST00000264956,NM_001306090.1,NM_153717.2;EVC,synonymous_variant,p.=,ENST00000509451,NM_001306092.1;CRMP1,non_coding_transcript_exon_variant,,ENST00000506216,;EVC,upstream_gene_variant,,ENST00000514919,;	A	ENST00000264956	Transcript	synonymous_variant	1177/6431	993/2979	331/992	Q	caG/caA		1		1	EVC	HGNC	HGNC:3497	protein_coding	YES	CCDS3383.1	ENSP00000264956	P57679		UPI000012A2A5	NM_001306090.1,NM_153717.2			8/21		hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF13																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	20	5748201	5748201	G	A	1	0	0	0	0	0	0	0	1	5152	1020	36	3		3	EVC	4	5748201	Silent	SNP	G	C3L-00893_TP		5748201	184466354	21	7158											
PHOX2B	0	.	GRCh38	chr4	41745903	41745903	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggacccccaagcgaatccggGatggaggtgatggggccggg	8	4	19	10	3	0	1	0	1	0	0	1	5	1	4	4	7	1	0	4	7	2	0	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.849C>T	p.=	p.I283I	ENST00000226382	3/3	280	214	66	221	221	0	strelka-varscan-mutect	PHOX2B,synonymous_variant,p.=,ENST00000226382,NM_003924.3;RP11-227F19.2,upstream_gene_variant,,ENST00000510602,;RP11-227F19.1,upstream_gene_variant,,ENST00000508038,;PHOX2B,downstream_gene_variant,,ENST00000510424,;	A	ENST00000226382	Transcript	synonymous_variant	1209/3030	849/945	283/314	I	atC/atT		1		-1	PHOX2B	HGNC	HGNC:9143	protein_coding	YES	CCDS3463.1	ENSP00000226382	Q99453		UPI000000D936	NM_003924.3			3/3		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF301																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	20	41745903	41745903	G	A	1	0	0	0	0	0	0	0	1	11947	1164	41	3		3	PHOX2B	4	41745903	Silent	SNP	G	C3L-00893_TP	35997702	41745903	148468652	22	7159											
PTPN13	0	.	GRCh38	chr4	86799188	86799188	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatagagagaacaaaccaTgaagattctgataaaggcaa	20	6	8	7	0	1	5	0	2	1	3	1	6	1	5	2	1	2	1	2	1	8	3	novel		C3L-00893_TP	C3L-00893_NB	T	T																c.6504T>C	p.=	p.H2168H	ENST00000436978	42/48	32	25	7	25	25	0	strelka-varscan	PTPN13,synonymous_variant,p.=,ENST00000436978,NM_080685.2;PTPN13,synonymous_variant,p.=,ENST00000427191,NM_006264.2;PTPN13,synonymous_variant,p.=,ENST00000411767,NM_080683.2;PTPN13,synonymous_variant,p.=,ENST00000511467,;PTPN13,synonymous_variant,p.=,ENST00000316707,NM_080684.2;	C	ENST00000436978	Transcript	synonymous_variant	6984/8573	6504/7473	2168/2490	H	caT/caC		1		1	PTPN13	HGNC	HGNC:9646	protein_coding	YES	CCDS47093.1	ENSP00000394794	Q12923		UPI000016075D	NM_080685.2			42/48		hmmpanther:PTHR19134:SF197,hmmpanther:PTHR19134,PIRSF_domain:PIRSF000933																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	20	86799188	86799188	T	C	1	0	0	0	0	0	0	0	1	12935	1461	51	5		5	PTPN13	4	86799188	Silent	SNP	T	C3L-00893_TP	45053285	86799188	103415367	23	7160											
IBSP	0	.	GRCh38	chr4	87810708	87810708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caacactgggctatggagagGacgccacgcctggcacaggg	10	4	15	12	2	0	1	0	0	0	1	0	3	0	2	2	5	1	2	2	5	2	1	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.349G>T	p.Asp117Tyr	p.D117Y	ENST00000226284	6/7	304	238	66	229	229	0	strelka-varscan	IBSP,missense_variant,p.Asp117Tyr,ENST00000226284,NM_004967.3;	T	ENST00000226284	Transcript	missense_variant	416/1546	349/954	117/317	D/Y	Gac/Tac		1		1	IBSP	HGNC	HGNC:5341	protein_coding	YES	CCDS3624.1	ENSP00000226284	P21815		UPI000013C899	NM_004967.3	deleterious(0.01)		6/7		hmmpanther:PTHR10345:SF0,hmmpanther:PTHR10345,Pfam_domain:PF05432																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	20	87810708	87810708	G	T	1	0	0	0	0	1	0	0	0	7375	1174	41	2		2	IBSP	4	87810708	Missense_Mutation	SNP	G	C3L-00893_TP	1011520	87810708	102403847	24	7161											
TBCK	0	.	GRCh38	chr4	106236461	106236461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttctctctgatgattaaagGgagcgtggcagctgcagaca	10	10	12	9	1	2	3	0	2	2	1	3	4	2	4	0	2	3	3	0	2	2	2	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.1279C>T	p.Pro427Ser	p.P427S	ENST00000273980	15/27	81	67	14	49	49	0	strelka-varscan	TBCK,missense_variant,p.Pro427Ser,ENST00000273980,;TBCK,missense_variant,p.Pro427Ser,ENST00000432496,NM_001163436.2;TBCK,missense_variant,p.Pro388Ser,ENST00000394706,NM_001163437.2;TBCK,missense_variant,p.Pro364Ser,ENST00000361687,NM_033115.4,NM_001290768.1;TBCK,missense_variant,p.Pro427Ser,ENST00000394708,NM_001163435.2;TBCK,5_prime_UTR_variant,,ENST00000503516,;TBCK,3_prime_UTR_variant,,ENST00000467183,;TBCK,3_prime_UTR_variant,,ENST00000508666,;TBCK,non_coding_transcript_exon_variant,,ENST00000510927,;	A	ENST00000273980	Transcript	missense_variant	1727/8101	1279/2682	427/893	P/S	Cct/Tct		1		-1	TBCK	HGNC	HGNC:28261	protein_coding	YES	CCDS54788.1	ENSP00000273980	Q8TEA7		UPI000013EF70		deleterious(0)		15/27		hmmpanther:PTHR22957:SF168,hmmpanther:PTHR22957																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	20	106236461	106236461	G	A	1	0	0	0	0	1	0	0	0	16041	1232	43	3		3	TBCK	4	106236461	Missense_Mutation	SNP	G	C3L-00893_TP	18425753	106236461	83978094	25	7162											
ADAMTS16	0	.	GRCh38	chr5	5232499	5232499	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagtatctcataggagtcgCctctgcaccaaccccaagta	11	8	9	13	1	2	0	1	0	2	0	4	2	2	2	4	2	2	3	4	2	5	3	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.1833C>A	p.=	p.R611R	ENST00000274181	12/23	206	152	54	295	295	0	strelka-varscan-mutect	ADAMTS16,synonymous_variant,p.=,ENST00000274181,NM_139056.2;ADAMTS16,upstream_gene_variant,,ENST00000513709,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	A	ENST00000274181	Transcript	synonymous_variant	1971/4979	1833/3675	611/1224	R	cgC/cgA		1		1	ADAMTS16	HGNC	HGNC:17108	protein_coding	YES	CCDS43299.1	ENSP00000274181	Q8TE57		UPI00004572CA	NM_139056.2			12/23		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895,Prints_domain:PR01857																	LOW	1	SNV	2			1										PASS		rs1438866229	.												A	2	1	20	5232499	5232499	C	A	1	0	0	0	0	0	0	0	1	305	726	26	2		2	ADAMTS16	5	5232499	Silent	SNP	C	C3L-00893_TP		5232499	176305760	26	7163											
FAM134B	0	.	GRCh38	chr5	16478048	16478048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaataccttaggacaaagagCtgaaaagtctaattcactgt	17	10	7	7	0	2	2	1	1	1	1	2	3	2	3	1	1	2	1	1	1	7	4	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.859G>T	p.Ala287Ser	p.A287S	ENST00000306320	7/9	60	56	4	30	30	0	strelka-mutect	FAM134B,missense_variant,p.Ala287Ser,ENST00000306320,NM_001034850.2;FAM134B,missense_variant,p.Ala146Ser,ENST00000399793,NM_019000.4;FAM134B,non_coding_transcript_exon_variant,,ENST00000509977,;FAM134B,missense_variant,p.Ala7Ser,ENST00000510362,;FAM134B,downstream_gene_variant,,ENST00000506441,;	A	ENST00000306320	Transcript	missense_variant	946/3268	859/1494	287/497	A/S	Gct/Tct		1		-1	FAM134B	HGNC	HGNC:25964	protein_coding	YES	CCDS43304.1	ENSP00000304642	Q9H6L5		UPI000006D7DB	NM_001034850.2	tolerated(0.22)		7/9		hmmpanther:PTHR28659,hmmpanther:PTHR28659:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	20	16478048	16478048	C	A	1	0	0	0	0	1	0	0	0	5296	797	28	2		2	FAM134B	5	16478048	Missense_Mutation	SNP	C	C3L-00893_TP	11245549	16478048	165060211	27	7164											
PCDHA6	0	.	GRCh38	chr5	140830410	140830410	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggatctcatggcctttagCcccagcctttcaccttgtcc	6	13	7	15	0	2	0	2	0	1	0	4	1	3	1	6	2	2	0	6	2	1	4			C3L-00893_TP	C3L-00893_NB	C	C																c.2319C>A	p.Ser773Arg	p.S773R	ENST00000529310	1/4	193	152	41	164	164	0	strelka-mutect	PCDHA6,missense_variant,p.Ser773Arg,ENST00000529310,NM_018909.3;PCDHA6,missense_variant,p.Ser773Arg,ENST00000378126,NM_031848.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA7,upstream_gene_variant,,ENST00000525929,NM_018910.2;PCDHA5,downstream_gene_variant,,ENST00000614258,NM_031501.1;PCDHA7,upstream_gene_variant,,ENST00000356878,NM_031852.1;	A	ENST00000529310	Transcript	missense_variant	2433/5374	2319/2853	773/950	S/R	agC/agA	COSM5422176,COSM5422177	1		1	PCDHA6	HGNC	HGNC:8672	protein_coding	YES	CCDS47281.1	ENSP00000433378	Q9UN73		UPI00001273CE	NM_018909.3	deleterious_low_confidence(0)		1/4		hmmpanther:PTHR24028:SF131,hmmpanther:PTHR24028											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	20	140830410	140830410	C	A	1	0	0	0	0	1	0	0	0	11615	738	26	2		2	PCDHA6	5	140830410	Missense_Mutation	SNP	C	C3L-00893_TP	124352362	140830410	40707849	28	7165											
PCDHA13	0	.	GRCh38	chr5	140882272	140882272	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtttttggagtgtaccatgCtgtcttcctggcaaggaggc	6	13	14	8	0	1	0	0	0	1	0	2	2	2	2	2	5	2	4	2	5	2	4	rs782377951		C3L-00893_TP	C3L-00893_NB	C	C																c.4C>T	p.=	p.L2L	ENST00000289272	1/4	109	87	22	91	91	0	strelka-varscan-mutect	PCDHA13,synonymous_variant,p.=,ENST00000289272,NM_018904.2;PCDHA13,synonymous_variant,p.=,ENST00000409494,;PCDHA13,synonymous_variant,p.=,ENST00000617769,NM_031865.1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA11,intron_variant,,ENST00000398640,NM_018902.4;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA12,intron_variant,,ENST00000398631,NM_018903.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA11,intron_variant,,ENST00000617408,;PCDHA12,downstream_gene_variant,,ENST00000613593,NM_031864.2;AC005609.17,non_coding_transcript_exon_variant,,ENST00000625195,;	T	ENST00000289272	Transcript	synonymous_variant	4/5260	4/2853	2/950	L	Ctg/Ttg	rs782377951	1		1	PCDHA13	HGNC	HGNC:8667	protein_coding	YES	CCDS4240.1	ENSP00000289272	Q9Y5I0		UPI00001273D6	NM_018904.2			1/4		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101																	LOW	1	SNV	1			1										PASS		rs782377951	.												T	2	4	20	140882272	140882272	C	T	1	0	0	0	0	0	0	0	1	11610	811	28	3		3	PCDHA13	5	140882272	Silent	SNP	C	C3L-00893_TP	51862	140882272	40655987	29	7166											
PCDHGA7	0	.	GRCh38	chr5	141385026	141385026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcttcctagccttcgtcctCgtactgctggcgctcaggct	3	13	10	15	3	2	0	1	0	1	0	6	0	4	0	3	2	3	4	3	2	2	4	rs777670481		C3L-00893_TP	C3L-00893_NB	C	C																c.2127C>T	p.=	p.L709L	ENST00000518325	1/4	460	396	64	311	311	0	strelka-varscan-mutect	PCDHGA7,synonymous_variant,p.=,ENST00000518325,NM_018920.3;PCDHGA7,synonymous_variant,p.=,ENST00000617050,NM_032087.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,upstream_gene_variant,,ENST00000615384,NM_032098.1;PCDHGB4,upstream_gene_variant,,ENST00000519479,NM_003736.2;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000518325	Transcript	synonymous_variant	2127/4605	2127/2799	709/932	L	ctC/ctT	rs777670481,COSM1486423	1		1	PCDHGA7	HGNC	HGNC:8705	protein_coding	YES	CCDS54927.1	ENSP00000430024	Q9Y5G6		UPI000007146F	NM_018920.3			1/4		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF56,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix											0,1						LOW	1	SNV	1		0,1	1										PASS		rs777670481	.												T	2	4	20	141385026	141385026	C	T	1	0	0	0	0	0	0	0	1	11646	871	31	1		1	PCDHGA7	5	141385026	Silent	SNP	C	C3L-00893_TP	502754	141385026	40153233	30	7167											
ZNF354B	0	.	GRCh38	chr5	178884148	178884148	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagacaaagctcatcacttAttgcacatcaaagaattcat	16	12	4	9	0	4	2	4	0	0	2	4	2	4	2	0	0	2	2	0	0	5	4	rs765748276		C3L-00893_TP	C3L-00893_NB	A	A																c.1696A>G	p.Ile566Val	p.I566V	ENST00000322434	5/5	155	113	42	97	97	0	strelka-varscan-mutect	ZNF354B,missense_variant,p.Ile566Val,ENST00000322434,NM_058230.2;ZNF354B,downstream_gene_variant,,ENST00000520377,;RNU1-39P,upstream_gene_variant,,ENST00000383897,;ZNF354B,non_coding_transcript_exon_variant,,ENST00000522714,;ZNF354B,upstream_gene_variant,,ENST00000522624,;	G	ENST00000322434	Transcript	missense_variant	1922/2802	1696/1839	566/612	I/V	Att/Gtt	rs765748276,COSM4585757	1		1	ZNF354B	HGNC	HGNC:17197	protein_coding	YES	CCDS4439.1	ENSP00000327143	Q96LW1		UPI0000071A24	NM_058230.2	tolerated(0.21)		5/5		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF87,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs765748276	.												G	3	3	20	178884148	178884148	A	G	1	0	0	0	0	1	0	0	0	18437	449	16	5		5	ZNF354B	5	178884148	Missense_Mutation	SNP	A	C3L-00893_TP	37499122	178884148	2654111	31	7168											
FLT4	0	.	GRCh38	chr5	180621698	180621698	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacctcctccaggctggCggccagaggggtggcgaaca	7	5	15	14	2	0	1	0	0	0	1	2	2	2	1	5	6	2	1	5	6	1	0	rs771458044		C3L-00893_TP	C3L-00893_NB	C	C																c.1864G>C	p.Ala622Pro	p.A622P	ENST00000261937	13/30	190	165	25	121	121	0	strelka-mutect	FLT4,missense_variant,p.Ala622Pro,ENST00000261937,NM_182925.4;FLT4,missense_variant,p.Ala622Pro,ENST00000393347,NM_002020.4;FLT4,missense_variant,p.Ala622Pro,ENST00000502649,;FLT4,3_prime_UTR_variant,,ENST00000619105,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,non_coding_transcript_exon_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;	G	ENST00000261937	Transcript	missense_variant	1943/5857	1864/4092	622/1363	A/P	Gcc/Ccc	rs771458044	1		-1	FLT4	HGNC	HGNC:3767	protein_coding	YES	CCDS4457.1	ENSP00000261937	P35916		UPI00001488E7	NM_182925.4	tolerated(0.07)		13/30		PROSITE_profiles:PS50835,Pfam_domain:PF13927,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs771458044	.												G	3	3	20	180621698	180621698	C	G	1	0	0	0	0	1	0	0	0	5800	768	27	4		4	FLT4	5	180621698	Missense_Mutation	SNP	C	C3L-00893_TP	1737550	180621698	916561	32	7169											
FAM83B	0	.	GRCh38	chr6	54940128	54940128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataaatgaaaattggaaaaGgcatagttatgctggggaac	17	9	12	3	0	0	1	0	1	0	0	0	4	0	3	0	4	2	3	0	4	9	4	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.1157G>T	p.Arg386Met	p.R386M	ENST00000306858	5/5	210	154	56	149	149	0	strelka-varscan-mutect	FAM83B,missense_variant,p.Arg386Met,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;	T	ENST00000306858	Transcript	missense_variant	1273/3167	1157/3036	386/1011	R/M	aGg/aTg		1		1	FAM83B	HGNC	HGNC:21357	protein_coding	YES	CCDS34479.1	ENSP00000304078	Q5T0W9		UPI00001D81EC	NM_001010872.2	deleterious(0)		5/5		hmmpanther:PTHR16181:SF4,hmmpanther:PTHR16181																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	20	54940128	54940128	G	T	1	0	0	0	0	1	0	0	0	5492	1000	35	2		2	FAM83B	6	54940128	Missense_Mutation	SNP	G	C3L-00893_TP		54940128	115865851	33	7170											
RIMS1	0	.	GRCh38	chr6	72233796	72233796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttggattattactggttgGatcctgccacgtggcacagc	8	13	11	9	1	0	0	0	0	0	0	1	2	1	2	2	4	3	2	2	4	2	4	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.1702G>T	p.Asp568Tyr	p.D568Y	ENST00000521978	7/34	317	247	70	202	201	1	strelka-varscan-mutect	RIMS1,missense_variant,p.Asp568Tyr,ENST00000264839,;RIMS1,missense_variant,p.Asp568Tyr,ENST00000521978,NM_014989.5;RIMS1,missense_variant,p.Asp568Tyr,ENST00000491071,;RIMS1,missense_variant,p.Asp568Tyr,ENST00000520567,;RIMS1,missense_variant,p.Asp568Tyr,ENST00000517960,;RIMS1,missense_variant,p.Asp568Tyr,ENST00000518273,;RIMS1,missense_variant,p.Asp568Tyr,ENST00000522291,;RIMS1,missense_variant,p.Asp42Tyr,ENST00000401910,NM_001168407.1;RIMS1,missense_variant,p.Asp142Tyr,ENST00000517433,;RIMS1,missense_variant,p.Asp42Tyr,ENST00000523963,NM_001168408.1;RIMS1,missense_variant,p.Asp27Tyr,ENST00000517827,NM_001168410.1;RIMS1,5_prime_UTR_variant,,ENST00000425662,NM_001168409.1;RIMS1,5_prime_UTR_variant,,ENST00000453976,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;RIMS1,non_coding_transcript_exon_variant,,ENST00000524197,;	T	ENST00000521978	Transcript	missense_variant	1702/5079	1702/5079	568/1692	D/Y	Gat/Tat		1		1	RIMS1	HGNC	HGNC:17282	protein_coding	YES	CCDS47449.1	ENSP00000428417	Q86UR5		UPI00001908FB	NM_014989.5	deleterious(0)		7/34		hmmpanther:PTHR12157:SF19,hmmpanther:PTHR12157																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	20	72233796	72233796	G	T	1	0	0	0	0	1	0	0	0	13542	1174	41	2		2	RIMS1	6	72233796	Missense_Mutation	SNP	G	C3L-00893_TP	17293668	72233796	98572183	34	7171											
AIM1	0	.	GRCh38	chr6	106520704	106520704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttggtttggggaagaagaagGaaagtcagccagaaatgtca	15	8	14	4	0	2	3	2	0	0	3	2	5	2	5	1	4	1	1	1	4	5	2	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.2272G>C	p.Glu758Gln	p.E758Q	ENST00000369066	2/20	293	219	74	237	237	0	strelka-varscan-mutect	AIM1,missense_variant,p.Glu1166Gln,ENST00000633556,;AIM1,missense_variant,p.Glu758Gln,ENST00000369066,NM_001624.3;	C	ENST00000369066	Transcript	missense_variant	2759/7553	2272/5172	758/1723	E/Q	Gaa/Caa		1		1	AIM1	HGNC	HGNC:356	protein_coding	YES	CCDS34506.1	ENSP00000358062	Q9Y4K1		UPI000013C91D	NM_001624.3	tolerated(0.14)		2/20		hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF2																	MODERATE	1	SNV	1			1										PASS		rs1239175400	.												C	3	2	20	106520704	106520704	G	C	1	0	0	0	0	1	0	0	0	507	1175	41	4		4	AIM1	6	106520704	Missense_Mutation	SNP	G	C3L-00893_TP	34286908	106520704	64285275	35	7172											
AP5Z1	0	.	GRCh38	chr7	4783346	4783346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgaggaggtcagagccgtgGgccagggcgtgctacgagcg	8	4	19	10	5	1	1	1	0	0	1	1	4	1	2	2	4	4	1	2	4	1	1	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.397G>T	p.Gly133Cys	p.G133C	ENST00000348624	4/17	144	108	36	92	92	0	strelka-varscan-mutect	AP5Z1,missense_variant,p.Gly133Cys,ENST00000348624,NM_014855.2;AP5Z1,non_coding_transcript_exon_variant,,ENST00000496303,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000477680,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000491375,;AP5Z1,upstream_gene_variant,,ENST00000469614,;AP5Z1,upstream_gene_variant,,ENST00000477454,;	T	ENST00000348624	Transcript	missense_variant	491/2901	397/2424	133/807	G/C	Ggc/Tgc		1		1	AP5Z1	HGNC	HGNC:22197	protein_coding	YES	CCDS47528.1	ENSP00000297562	O43299		UPI00003E5903	NM_014855.2	tolerated(0.28)		4/17		hmmpanther:PTHR12181:SF29,hmmpanther:PTHR12181																	MODERATE	1	SNV	5			1										PASS		rs1213712664	.												T	3	4	20	4783346	4783346	G	T	1	0	0	0	0	1	0	0	0	874	1232	43	2		2	AP5Z1	7	4783346	Missense_Mutation	SNP	G	C3L-00893_TP		4783346	154562627	36	7173											
RADIL	0	.	GRCh38	chr7	4801727	4801727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcttttccacaggggccgCcggactctggccagtcgggg	4	7	16	14	4	1	0	0	0	1	0	3	1	2	1	4	6	0	1	4	6	0	2	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.2768G>T	p.Gly923Val	p.G923V	ENST00000399583	12/15	284	208	76	275	275	0	strelka-varscan-mutect	RADIL,missense_variant,p.Gly923Val,ENST00000399583,NM_018059.4;RADIL,3_prime_UTR_variant,,ENST00000445392,;RADIL,non_coding_transcript_exon_variant,,ENST00000473130,;RADIL,non_coding_transcript_exon_variant,,ENST00000472999,;RADIL,downstream_gene_variant,,ENST00000469399,;	A	ENST00000399583	Transcript	missense_variant	2956/3689	2768/3228	923/1075	G/V	gGc/gTc		1		-1	RADIL	HGNC	HGNC:22226	protein_coding	YES	CCDS43544.1	ENSP00000382492	Q96JH8		UPI0000E0A787	NM_018059.4	tolerated(0.21)		12/15		hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	20	4801727	4801727	C	A	1	0	0	0	0	1	0	0	0	13158	739	26	2		2	RADIL	7	4801727	Missense_Mutation	SNP	C	C3L-00893_TP	18381	4801727	154544246	37	7174											
EGFR	0	.	GRCh38	chr7	55174772	55174786	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-																															aaaattcccgtcgctatcaaGgaattaagagaagcaacatc																								rs121913421		C3L-00893_TP	C3L-00893_NB	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC																c.2235_2249delGGAATTAAGAGAAGC	p.Glu746_Ala750del	p.E746_A750del	ENST00000275493	19/28	638	497	141	569	569	0	sindel-varindel-pindel	EGFR,inframe_deletion,p.Glu746_Ala750del,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000454757,;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	-	ENST00000275493	Transcript	inframe_deletion	2412-2426/9821	2235-2249/3633	745-750/1210	KELREA/K	aaGGAATTAAGAGAAGCa/aaa	rs121913421,COSM6223	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1						MODERATE	1	deletion	1		1,1	1										PASS		.	.												-	7	5	20	55174772	55174772	GGAATTAAGAGAAGC	-	1	0	1	0	1	0	0	0	0	4803	991	35	0		0	EGFR	7	55174772	In_Frame_Del	DEL	GGAATTAAGAGAAGC	C3L-00893_TP	50373045	55174772	104171201	38	7175											
POT1	0	.	GRCh38	chr7	124846978	124846978	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgacatctttctacctcgtAtaatgatactgatccagagc	11	14	6	10	1	2	4	0	3	2	1	4	4	3	4	2	0	3	1	2	0	4	6	novel		C3L-00893_TP	C3L-00893_NB	A	A																c.970T>G	p.Tyr324Asp	p.Y324D	ENST00000357628	12/19	41	30	11	34	34	0	strelka-varscan-mutect	POT1,missense_variant,p.Tyr324Asp,ENST00000357628,NM_015450.2;POT1,missense_variant,p.Tyr193Asp,ENST00000393329,NM_001042594.1;POT1,upstream_gene_variant,,ENST00000608200,;POT1,downstream_gene_variant,,ENST00000610141,;POT1,missense_variant,p.Tyr324Asp,ENST00000609106,;POT1,missense_variant,p.Tyr324Asp,ENST00000607932,;POT1,3_prime_UTR_variant,,ENST00000608057,;POT1,upstream_gene_variant,,ENST00000466483,;POT1,downstream_gene_variant,,ENST00000608126,;	C	ENST00000357628	Transcript	missense_variant	1569/4080	970/1905	324/634	Y/D	Tac/Gac		1		-1	POT1	HGNC	HGNC:17284	protein_coding	YES	CCDS5793.1	ENSP00000350249	Q9NUX5	A0A024R739	UPI0000073E3F	NM_015450.2	tolerated(0.1)		12/19		hmmpanther:PTHR14513,hmmpanther:PTHR14513:SF2																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	20	124846978	124846978	A	C	1	0	0	0	0	1	0	0	0	12374	449	16	5		5	POT1	7	124846978	Missense_Mutation	SNP	A	C3L-00893_TP	69672206	124846978	34498995	39	7176											
OR2A25	0	.	GRCh38	chr7	144074709	144074709	+	Missense_Mutation	SNP	C	C	A																															tccatctagtgttactgctaCcactgtccttctgtggaccc																								rs779995208		C3L-00893_TP	C3L-00893_NB	C	C																c.490C>A	p.Pro164Thr	p.P164T	ENST00000408898	1/1	350	272	78	261	261	0	strelka-varscan-mutect	OR2A25,missense_variant,p.Pro164Thr,ENST00000408898,NM_001004488.1;OR2A41P,upstream_gene_variant,,ENST00000473586,;	A	ENST00000408898	Transcript	missense_variant	528/1014	490/933	164/310	P/T	Cca/Aca	rs779995208	1		1	OR2A25	HGNC	HGNC:19562	protein_coding	YES	CCDS43669.1	ENSP00000386167	A4D2G3	A0A126GVV5	UPI00002373C5	NM_001004488.1	deleterious(0.05)		1/1		Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF146,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs779995208	.												A	3	1	20	144074709	144074709	C	A	1	0	0	0	0	1	0	0	0	11055	507	18	2		2	OR2A25	7	144074709	Missense_Mutation	SNP	C	C3L-00893_TP	19227731	144074709	15271264	40	7177	163	2									
OR2A25	0	.	GRCh38	chr7	144074710	144074710	+	Missense_Mutation	SNP	C	C	A																															ccatctagtgttactgctacCactgtccttctgtggacccc																								novel		C3L-00893_TP	C3L-00893_NB	C	C																c.491C>A	p.Pro164Gln	p.P164Q	ENST00000408898	1/1	348	268	80	262	262	0	strelka-varscan-mutect	OR2A25,missense_variant,p.Pro164Gln,ENST00000408898,NM_001004488.1;OR2A41P,upstream_gene_variant,,ENST00000473586,;	A	ENST00000408898	Transcript	missense_variant	529/1014	491/933	164/310	P/Q	cCa/cAa		1		1	OR2A25	HGNC	HGNC:19562	protein_coding	YES	CCDS43669.1	ENSP00000386167	A4D2G3	A0A126GVV5	UPI00002373C5	NM_001004488.1	tolerated(0.09)		1/1		Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF146,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	20	144074710	144074710	C	A	1	0	0	0	0	1	0	0	0	11055	594	21	2		2	OR2A25	7	144074710	Missense_Mutation	SNP	C	C3L-00893_TP	1	144074710	15271263	41	7178	163	2									
LZTS1	0	.	GRCh38	chr8	20253385	20253385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggtgctgtgtgtgggCaggctggacatggagttccg	4	11	18	8	1	0	0	0	0	0	0	1	2	1	2	1	5	2	5	1	5	0	1	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.546G>A	p.=	p.L182L	ENST00000381569	3/4	105	74	31	98	98	0	strelka-varscan	LZTS1,synonymous_variant,p.=,ENST00000381569,;LZTS1,synonymous_variant,p.=,ENST00000265801,NM_021020.3;LZTS1,synonymous_variant,p.=,ENST00000522290,;LZTS1,intron_variant,,ENST00000616228,;	T	ENST00000381569	Transcript	synonymous_variant	904/5706	546/1791	182/596	L	ctG/ctA		1		-1	LZTS1	HGNC	HGNC:13861	protein_coding	YES	CCDS6015.1	ENSP00000370981	Q9Y250		UPI000006DEE8				3/4		Low_complexity_(Seg):seg,hmmpanther:PTHR19354:SF5,hmmpanther:PTHR19354																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	20	20253385	20253385	C	T	1	0	0	0	0	0	0	0	1	9051	697	25	3		3	LZTS1	8	20253385	Silent	SNP	C	C3L-00893_TP		20253385	124885251	42	7179											
KIAA1429	0	.	GRCh38	chr8	94534946	94534946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatcactctatccactgatCcatatattgccagtgtcaga	11	14	5	11	0	3	2	2	1	1	1	5	2	5	2	3	0	1	0	3	0	4	5	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.377G>T	p.Gly126Val	p.G126V	ENST00000297591	5/24	349	279	70	224	223	1	strelka-varscan-mutect	KIAA1429,missense_variant,p.Gly126Val,ENST00000297591,NM_015496.4;KIAA1429,missense_variant,p.Gly126Val,ENST00000421249,NM_183009.2;RP11-267M23.3,downstream_gene_variant,,ENST00000521010,;KIAA1429,intron_variant,,ENST00000519001,;	A	ENST00000297591	Transcript	missense_variant	453/6528	377/5439	126/1812	G/V	gGa/gTa		1		-1	KIAA1429	HGNC	HGNC:24500	protein_coding	YES	CCDS34923.1	ENSP00000297591	Q69YN4		UPI00001BBB23	NM_015496.4	deleterious(0)		5/24		Pfam_domain:PF15912,hmmpanther:PTHR23185																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	20	94534946	94534946	C	A	1	0	0	0	0	1	0	0	0	8114	855	30	2		2	KIAA1429	8	94534946	Missense_Mutation	SNP	C	C3L-00893_TP	74281561	94534946	50603690	43	7180											
CYP11B2	0	.	GRCh38	chr8	142917135	142917135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggatcatcctgcagggatGcaggctgtccacctgttgca	8	9	12	12	0	1	0	1	0	0	0	3	2	3	2	3	3	3	5	3	3	0	1	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.319C>A	p.His107Asn	p.H107N	ENST00000323110	2/9	704	592	112	345	345	0	strelka-varscan-mutect	CYP11B2,missense_variant,p.His107Asn,ENST00000323110,NM_000498.3;GML,downstream_gene_variant,,ENST00000522728,;	T	ENST00000323110	Transcript	missense_variant	322/2936	319/1512	107/503	H/N	Cat/Aat		1		-1	CYP11B2	HGNC	HGNC:2592	protein_coding	YES	CCDS6393.1	ENSP00000325822	P19099		UPI00001282CF	NM_000498.3	tolerated(0.07)		2/9		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24279,hmmpanther:PTHR24279:SF46,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	20	142917135	142917135	G	T	1	0	0	0	0	1	0	0	0	3949	1319	46	2		2	CYP11B2	8	142917135	Missense_Mutation	SNP	G	C3L-00893_TP	48382189	142917135	2221501	44	7181											
EQTN	0	.	GRCh38	chr9	27284898	27284898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaaggatgtatctgaaacaCcttctgatggatgaaagtaa	17	10	9	5	0	2	3	0	3	2	0	2	5	2	5	1	2	1	2	1	2	6	3	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.710G>T	p.Gly237Val	p.G237V	ENST00000380032	8/8	306	240	66	272	272	0	strelka-varscan-mutect	EQTN,missense_variant,p.Gly237Val,ENST00000380032,NM_020641.2;EQTN,missense_variant,p.Gly208Val,ENST00000537675,NM_001161585.1;	A	ENST00000380032	Transcript	missense_variant	794/1033	710/885	237/294	G/V	gGt/gTt		1		-1	EQTN	HGNC	HGNC:1359	protein_coding	YES	CCDS35001.1	ENSP00000369371	Q9NQ60		UPI000013CA7C	NM_020641.2	deleterious(0)		8/8		Pfam_domain:PF15339,hmmpanther:PTHR36874																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	20	27284898	27284898	C	A	1	0	0	0	0	1	0	0	0	5050	507	18	2		2	EQTN	9	27284898	Missense_Mutation	SNP	C	C3L-00893_TP		27284898	111109819	45	7182											
ANKRD18B	0	.	GRCh38	chr9	33541218	33541218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattgaaaaaaagaaaagaaGgtgcaaaaggtaagacactt	23	6	9	3	0	0	4	0	1	0	3	0	4	0	4	0	2	1	2	0	2	10	3	rs111814125		C3L-00893_TP	C3L-00893_NB	G	G																c.880G>C	p.Gly294Arg	p.G294R	ENST00000290943	7/16	83	77	6	57	57	0	varscan-mutect	ANKRD18B,missense_variant,p.Gly294Arg,ENST00000290943,NM_001244752.1;ANKRD18B,missense_variant,p.Gly45Arg,ENST00000605687,;ANKRD18B,non_coding_transcript_exon_variant,,ENST00000484634,;ANKRD18B,downstream_gene_variant,,ENST00000474881,;	C	ENST00000290943	Transcript	missense_variant	976/3773	880/3036	294/1011	G/R	Ggt/Cgt	rs111814125	1		1	ANKRD18B	HGNC	HGNC:23644	protein_coding	YES		ENSP00000290943	A2A2Z9		UPI0000EE047B	NM_001244752.1	tolerated(0.29)		7/16		hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF27,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	5			1										PASS		rs111814125	.												C	3	2	20	33541218	33541218	G	C	1	0	0	0	0	1	0	0	0	749	1000	35	4		4	ANKRD18B	9	33541218	Missense_Mutation	SNP	G	C3L-00893_TP	6256320	33541218	104853499	46	7183											
TMC1	0	.	GRCh38	chr9	72754872	72754872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaaactttggtgtgttGtacgacttcaatgtaagtgt	10	14	11	6	1	1	0	1	0	0	0	1	1	1	0	0	1	3	5	0	1	4	5	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.729G>T	p.Leu243Phe	p.L243F	ENST00000297784	12/24	605	484	121	462	462	0	strelka-varscan-mutect	TMC1,missense_variant,p.Leu243Phe,ENST00000297784,NM_138691.2;TMC1,missense_variant,p.Leu243Phe,ENST00000340019,;	T	ENST00000297784	Transcript	missense_variant	1269/3201	729/2283	243/760	L/F	ttG/ttT		1		1	TMC1	HGNC	HGNC:16513	protein_coding	YES	CCDS6643.1	ENSP00000297784	Q8TDI8		UPI0000161FA9	NM_138691.2	deleterious(0)		12/24		hmmpanther:PTHR23302:SF18,hmmpanther:PTHR23302																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	20	72754872	72754872	G	T	1	0	0	0	0	1	0	0	0	16430	1368	48	2		2	TMC1	9	72754872	Missense_Mutation	SNP	G	C3L-00893_TP	39213654	72754872	65639845	47	7184											
TMC1	0	.	GRCh38	chr9	72821014	72821014	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctactgctcatcctcttcCtgtccacaatgcctgtcttg	5	15	6	15	0	3	0	1	0	2	0	6	0	6	0	4	0	4	2	4	0	2	3	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.1936C>T	p.=	p.L646L	ENST00000297784	20/24	930	710	220	659	659	0	strelka-varscan-mutect	TMC1,synonymous_variant,p.=,ENST00000297784,NM_138691.2;TMC1,synonymous_variant,p.=,ENST00000340019,;TMC1,non_coding_transcript_exon_variant,,ENST00000486417,;TMC1,non_coding_transcript_exon_variant,,ENST00000469455,;	T	ENST00000297784	Transcript	synonymous_variant	2476/3201	1936/2283	646/760	L	Ctg/Ttg		1		1	TMC1	HGNC	HGNC:16513	protein_coding	YES	CCDS6643.1	ENSP00000297784	Q8TDI8		UPI0000161FA9	NM_138691.2			20/24		Low_complexity_(Seg):seg,hmmpanther:PTHR23302:SF18,hmmpanther:PTHR23302,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	20	72821014	72821014	C	T	1	0	0	0	0	0	0	0	1	16430	680	24	3		3	TMC1	9	72821014	Silent	SNP	C	C3L-00893_TP	66142	72821014	65573703	48	7185											
AGTPBP1	0	.	GRCh38	chr9	85655277	85655277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acttcctcattatcagactgGaggtattgacaagaggatcc	12	11	9	9	0	2	3	2	1	0	2	4	5	4	5	2	3	0	1	2	3	3	4	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.1109C>T	p.Ser370Phe	p.S370F	ENST00000337006	10/25	180	168	12	188	188	0	strelka-varscan-mutect	AGTPBP1,missense_variant,p.Ser370Phe,ENST00000337006,NM_001286715.1;AGTPBP1,missense_variant,p.Ser318Phe,ENST00000357081,;AGTPBP1,intron_variant,,ENST00000628899,NM_001286717.1;AGTPBP1,intron_variant,,ENST00000376083,NM_015239.2;AGTPBP1,non_coding_transcript_exon_variant,,ENST00000376081,;AGTPBP1,downstream_gene_variant,,ENST00000491784,;AGTPBP1,downstream_gene_variant,,ENST00000376080,;	A	ENST00000337006	Transcript	missense_variant	1176/4473	1109/3837	370/1278	S/F	tCc/tTc		1		-1	AGTPBP1	HGNC	HGNC:17258	protein_coding	YES	CCDS75854.1	ENSP00000338512		J3KNS1	UPI000387D56E	NM_001286715.1	deleterious(0.02)		10/25		hmmpanther:PTHR12756:SF24,hmmpanther:PTHR12756																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	20	85655277	85655277	G	A	1	0	0	0	0	1	0	0	0	479	1174	41	3		3	AGTPBP1	9	85655277	Missense_Mutation	SNP	G	C3L-00893_TP	12834263	85655277	52739440	49	7186											
SVEP1	0	.	GRCh38	chr9	110471414	110471414	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctgcagaagggggaagccTtttttgtttctaatgaattg	9	15	12	5	0	2	2	0	1	2	1	2	3	2	3	1	2	2	2	1	2	4	6	novel		C3L-00893_TP	C3L-00893_NB	T	T																c.2948A>G	p.Lys983Arg	p.K983R	ENST00000374469	16/48	249	178	71	162	162	0	strelka-varscan-mutect	SVEP1,missense_variant,p.Lys983Arg,ENST00000401783,;SVEP1,missense_variant,p.Lys983Arg,ENST00000374469,NM_153366.3;SVEP1,downstream_gene_variant,,ENST00000374461,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;	C	ENST00000374469	Transcript	missense_variant	3143/12194	2948/10716	983/3571	K/R	aAg/aGg		1		-1	SVEP1	HGNC	HGNC:15985	protein_coding	YES	CCDS48004.1	ENSP00000363593	Q4LDE5		UPI000153DA74	NM_153366.3	tolerated(0.11)		16/48																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	20	110471414	110471414	T	C	1	0	0	0	0	1	0	0	0	15805	1609	56	5		5	SVEP1	9	110471414	Missense_Mutation	SNP	T	C3L-00893_TP	24816137	110471414	27923303	50	7187											
ITIH5	0	.	GRCh38	chr10	7579764	7579764	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccacagacccgatgagcTgcgagcctgcgtcctcctcc	8	6	10	17	3	0	3	0	1	0	2	3	5	3	3	6	0	4	1	6	0	0	0	novel		C3L-00893_TP	C3L-00893_NB	T	T																c.1409A>T	p.Gln470Leu	p.Q470L	ENST00000397146	9/14	153	112	41	137	137	0	strelka-varscan-mutect	ITIH5,missense_variant,p.Gln470Leu,ENST00000397146,NM_030569.6;ITIH5,missense_variant,p.Gln470Leu,ENST00000397145,NM_001001851.2;ITIH5,missense_variant,p.Gln256Leu,ENST00000613909,NM_032817.5;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;ITIH5,3_prime_UTR_variant,,ENST00000461751,;ITIH5,non_coding_transcript_exon_variant,,ENST00000476417,;ITIH5,upstream_gene_variant,,ENST00000468389,;ITIH5,upstream_gene_variant,,ENST00000492668,;	A	ENST00000397146	Transcript	missense_variant	1488/6721	1409/2829	470/942	Q/L	cAg/cTg		1		-1	ITIH5	HGNC	HGNC:21449	protein_coding	YES		ENSP00000380333		C9J2H1	UPI000014D02E	NM_030569.6	tolerated(0.09)		9/14		PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF62,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	20	7579764	7579764	T	A	1	0	0	0	0	1	0	0	0	7813	1580	55	4		4	ITIH5	10	7579764	Missense_Mutation	SNP	T	C3L-00893_TP		7579764	126217658	51	7188											
JMJD1C	0	.	GRCh38	chr10	63215269	63215269	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgggtcctacctcctcGtgatatataatcatattttt	11	16	6	8	1	1	1	1	1	0	0	4	1	3	1	3	1	1	0	3	1	6	7	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.1009C>A	p.=	p.R337R	ENST00000399262	7/26	94	86	8	70	69	1	varscan-mutect	JMJD1C,synonymous_variant,p.=,ENST00000399262,NM_001318154.1,NM_001322252.1,NM_001322254.1,NM_001322258.1,NM_032776.2;JMJD1C,synonymous_variant,p.=,ENST00000542921,NM_001318153.1,NM_001282948.1;JMJD1C,non_coding_transcript_exon_variant,,ENST00000402544,;JMJD1C,downstream_gene_variant,,ENST00000489372,;JMJD1C,downstream_gene_variant,,ENST00000469152,;JMJD1C,downstream_gene_variant,,ENST00000633035,;	T	ENST00000399262	Transcript	synonymous_variant	1228/8666	1009/7623	337/2540	R	Cga/Aga		1		-1	JMJD1C	HGNC	HGNC:12313	protein_coding	YES	CCDS41532.1	ENSP00000382204	Q15652		UPI0000198BEF	NM_001318154.1,NM_001322252.1,NM_001322254.1,NM_001322258.1,NM_032776.2			7/26		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	20	63215269	63215269	G	T	1	0	0	0	0	0	0	0	1	7864	1153	40	1		1	JMJD1C	10	63215269	Silent	SNP	G	C3L-00893_TP	55635505	63215269	70582153	52	7189											
CCSER2	0	.	GRCh38	chr10	84513890	84513902	+	Frame_Shift_Del	DEL	TTAAAGCCATCCA	TTAAAGCCATCCA	-																															agcccaagtccttgcagcttTtaaagccatccatattgagt																								novel		C3L-00893_TP	C3L-00893_NB	TTAAAGCCATCCA	TTAAAGCCATCCA																c.2768_2780delTAAAGCCATCCAT	p.Leu923TyrfsTer2	p.L923Yfs*2	ENST00000372088	10/10	407	332	75	353	353	0	sindel-varindel-pindel	CCSER2,frameshift_variant,p.Leu923TyrfsTer2,ENST00000372088,NM_001284240.1;CCSER2,3_prime_UTR_variant,,ENST00000224756,NM_018999.3;CCSER2,3_prime_UTR_variant,,ENST00000543283,NM_001284243.1;CCSER2,non_coding_transcript_exon_variant,,ENST00000494144,;CCSER2,downstream_gene_variant,,ENST00000493409,;CCSER2,downstream_gene_variant,,ENST00000498300,;CCSER2,downstream_gene_variant,,ENST00000480006,;CCSER2,downstream_gene_variant,,ENST00000466105,;	-	ENST00000372088	Transcript	frameshift_variant	3026-3038/7657	2767-2779/3144	923-927/1047	LKPSI/X	TTAAAGCCATCCAta/ta		1		1	CCSER2	HGNC	HGNC:29197	protein_coding	YES	CCDS60582.1	ENSP00000361160	Q9H7U1		UPI00001F92C7	NM_001284240.1			10/10		Low_complexity_(Seg):seg																	HIGH	1	deletion	2	1		1										PASS		.	.												-	7	5	20	84513890	84513890	TTAAAGCCATCCA	-	1	0	1	0	1	0	0	0	0	2653	1838	64	0		0	CCSER2	10	84513890	Frame_Shift_Del	DEL	TTAAAGCCATCCA	C3L-00893_TP	21298621	84513890	49283532	53	7190											
CYP2C9	0	.	GRCh38	chr10	94981351	94981351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgtgacattaaattcaGaaactatctcattcccaagg	14	11	6	10	0	2	2	2	1	1	1	4	3	3	2	2	1	1	0	2	1	5	4	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.1130G>T	p.Arg377Ile	p.R377I	ENST00000260682	7/9	508	350	158	331	331	0	strelka-varscan-mutect	CYP2C9,missense_variant,p.Arg377Ile,ENST00000260682,NM_000771.3;	T	ENST00000260682	Transcript	missense_variant	1142/1847	1130/1473	377/490	R/I	aGa/aTa		1		1	CYP2C9	HGNC	HGNC:2623	protein_coding	YES	CCDS7437.1	ENSP00000260682	P11712	S5RV20	UPI0000128258	NM_000771.3	deleterious(0)		7/9		hmmpanther:PTHR24300:SF175,hmmpanther:PTHR24300,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	20	94981351	94981351	G	T	1	0	0	0	0	1	0	0	0	3971	942	33	2		2	CYP2C9	10	94981351	Missense_Mutation	SNP	G	C3L-00893_TP	10467461	94981351	38816071	54	7191											
GSTO2	0	.	GRCh38	chr10	104297676	104297676	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gagcggctggatgtgtatggGatactggagtaagacatttg	10	11	16	4	1	0	1	0	0	0	1	0	5	0	4	0	4	2	3	0	4	3	4	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.567G>C	p.=	p.G189G	ENST00000338595	6/7	146	101	45	88	88	0	strelka-varscan-mutect	GSTO2,synonymous_variant,p.=,ENST00000369707,NM_001191014.1;GSTO2,synonymous_variant,p.=,ENST00000450629,NM_001191013.1;GSTO2,synonymous_variant,p.=,ENST00000338595,NM_183239.1;GSTO2,non_coding_transcript_exon_variant,,ENST00000473401,;GSTO2,non_coding_transcript_exon_variant,,ENST00000467629,;GSTO2,non_coding_transcript_exon_variant,,ENST00000498052,;	C	ENST00000338595	Transcript	synonymous_variant	887/1179	567/732	189/243	G	ggG/ggC		1		1	GSTO2	HGNC	HGNC:23064	protein_coding	YES	CCDS7556.1	ENSP00000345023	Q9H4Y5		UPI000004D293	NM_183239.1			6/7		PROSITE_profiles:PS50405,hmmpanther:PTHR11260,hmmpanther:PTHR11260:SF197,Gene3D:1.20.1050.10,Pfam_domain:PF13410,Superfamily_domains:SSF47616																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	20	104297676	104297676	G	C	1	0	0	0	0	0	0	0	1	6727	1161	41	4		4	GSTO2	10	104297676	Silent	SNP	G	C3L-00893_TP	9316325	104297676	29499746	55	7192											
MUC5AC	0	.	GRCh38	chr11	1174613	1174613	+	Missense_Mutation	SNP	G	G	T																															agctcggcggctggagggacGgcgtctgcagtgagtgcctg																								novel		C3L-00893_TP	C3L-00893_NB	G	G																c.2083G>T	p.Gly695Cys	p.G695C	ENST00000621226	17/49	75	49	26	43	43	0	strelka-varscan-mutect	MUC5AC,missense_variant,p.Gly695Cys,ENST00000621226,NM_001304359.1;	T	ENST00000621226	Transcript	missense_variant	2130/17448	2083/16965	695/5654	G/C	Ggc/Tgc		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	deleterious(0)		17/49		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF291,SMART_domains:SM00832																	MODERATE	1	SNV	5			1										PASS		rs1392105998	.												T	3	4	20	1174613	1174613	G	T	1	0	0	0	0	1	0	0	0	9978	1116	39	1		1	MUC5AC	11	1174613	Missense_Mutation	SNP	G	C3L-00893_TP		1174613	133912009	56	7193	164	2									
MUC5AC	0	.	GRCh38	chr11	1174614	1174614	+	Missense_Mutation	SNP	G	G	T																															gctcggcggctggagggacgGcgtctgcagtgagtgcctgc																								novel		C3L-00893_TP	C3L-00893_NB	G	G																c.2084G>T	p.Gly695Val	p.G695V	ENST00000621226	17/49	75	51	24	42	42	0	strelka-varscan-mutect	MUC5AC,missense_variant,p.Gly695Val,ENST00000621226,NM_001304359.1;	T	ENST00000621226	Transcript	missense_variant	2131/17448	2084/16965	695/5654	G/V	gGc/gTc		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	deleterious(0)		17/49		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF291,SMART_domains:SM00832																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	20	1174614	1174614	G	T	1	0	0	0	0	1	0	0	0	9978	1203	42	2		2	MUC5AC	11	1174614	Missense_Mutation	SNP	G	C3L-00893_TP	1	1174614	133912008	57	7194	164	2									
RRM1	0	.	GRCh38	chr11	4111995	4111995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacatataatcttctttctGagaggtggtttactcatgct	11	16	7	7	0	4	1	1	1	3	1	4	2	4	1	0	2	3	2	0	2	4	6	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.583G>A	p.Glu195Lys	p.E195K	ENST00000300738	7/19	148	124	24	97	97	0	strelka-varscan-mutect	RRM1,missense_variant,p.Glu195Lys,ENST00000300738,NM_001033.3;RRM1,upstream_gene_variant,,ENST00000534285,;RRM1,downstream_gene_variant,,ENST00000532710,;RRM1,missense_variant,p.Glu8Lys,ENST00000528442,;RRM1,3_prime_UTR_variant,,ENST00000532170,;RRM1,3_prime_UTR_variant,,ENST00000533349,NM_001318064.1;RRM1,upstream_gene_variant,,ENST00000533495,NM_001318065.1;RRM1,downstream_gene_variant,,ENST00000526350,;	A	ENST00000300738	Transcript	missense_variant	787/3076	583/2379	195/792	E/K	Gag/Aag		1		1	RRM1	HGNC	HGNC:10451	protein_coding	YES	CCDS7750.1	ENSP00000300738	P23921		UPI0000000C7C	NM_001033.3	tolerated_low_confidence(0.17)		7/19		hmmpanther:PTHR11573,Pfam_domain:PF00317,Gene3D:3.20.70.20,TIGRFAM_domain:TIGR02506,Superfamily_domains:SSF48168																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	20	4111995	4111995	G	A	1	0	0	0	0	1	0	0	0	13935	1291	45	3		3	RRM1	11	4111995	Missense_Mutation	SNP	G	C3L-00893_TP	2937381	4111995	130974627	58	7195											
OR52A5	0	.	GRCh38	chr11	5132438	5132438	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtgcaatgtctgtggctgCcaacatggccaaaaaaatgt	14	9	10	8	0	1	0	0	0	1	0	1	0	1	0	2	2	3	2	2	2	6	0	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.205G>T	p.Ala69Ser	p.A69S	ENST00000307388	1/1	126	100	26	107	107	0	strelka-varscan-mutect	OR52A5,missense_variant,p.Ala69Ser,ENST00000307388,NM_001005160.2;	A	ENST00000307388	Transcript	missense_variant	205/951	205/951	69/316	A/S	Gca/Tca		1		-1	OR52A5	HGNC	HGNC:19580	protein_coding	YES	CCDS31373.1	ENSP00000303469	Q9H2C5	A0A126GWD2	UPI0000046AEF	NM_001005160.2	tolerated(0.11)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF48,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1463532884	.												A	3	1	20	5132438	5132438	C	A	1	0	0	0	0	1	0	0	0	11183	739	26	2		2	OR52A5	11	5132438	Missense_Mutation	SNP	C	C3L-00893_TP	1020443	5132438	129954184	59	7196											
HBD	0	.	GRCh38	chr11	5234012	5234012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagttctcaggatccacGtgcagcttgtcacagtgcag	9	10	11	11	1	2	1	2	1	1	0	4	2	3	2	1	1	3	4	1	1	1	2	rs61746501		C3L-00893_TP	C3L-00893_NB	G	G																c.294C>A	p.His98Gln	p.H98Q	ENST00000380299	2/3	574	425	149	476	476	0	strelka-varscan-mutect	HBD,missense_variant,p.His98Gln,ENST00000380299,NM_000519.3;HBD,missense_variant,p.His98Gln,ENST00000429817,;HBD,missense_variant,p.His98Gln,ENST00000292901,;HBD,intron_variant,,ENST00000417377,;HBB,upstream_gene_variant,,ENST00000380315,;	T	ENST00000380299	Transcript	missense_variant	509/785	294/444	98/147	H/Q	caC/caA	rs61746501	1		-1	HBD	HGNC	HGNC:4829	protein_coding	YES	CCDS31376.1	ENSP00000369654	P02042	A0N071	UPI0000161DC2	NM_000519.3	deleterious(0.02)		2/3		PROSITE_profiles:PS01033,hmmpanther:PTHR11442:SF50,hmmpanther:PTHR11442,Pfam_domain:PF00042,Gene3D:1.10.490.10,Superfamily_domains:SSF46458,Prints_domain:PR00814																	MODERATE	1	SNV	1			1										PASS		rs61746501	.												T	3	4	20	5234012	5234012	G	T	1	0	0	0	0	1	0	0	0	6865	1136	40	1		1	HBD	11	5234012	Missense_Mutation	SNP	G	C3L-00893_TP	101574	5234012	129852610	60	7197											
IGSF22	0	.	GRCh38	chr11	18706935	18706935	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtccttattgatgagccAggtgtccctggagtcaagtg	7	12	13	9	0	1	2	1	2	0	0	3	3	3	3	3	3	1	0	3	3	2	2	novel		C3L-00893_TP	C3L-00893_NB	A	A																c.3559T>A	p.Trp1187Arg	p.W1187R	ENST00000513874	21/23	47	30	17	34	34	0	strelka-varscan-mutect	IGSF22,missense_variant,p.Trp1187Arg,ENST00000513874,NM_173588.3;TMEM86A,downstream_gene_variant,,ENST00000280734,NM_153347.2;RP11-1081L13.4,non_coding_transcript_exon_variant,,ENST00000527285,;IGSF22,upstream_gene_variant,,ENST00000510673,;IGSF22,3_prime_UTR_variant,,ENST00000319338,;IGSF22,downstream_gene_variant,,ENST00000504981,;	T	ENST00000513874	Transcript	missense_variant	3699/4284	3559/3981	1187/1326	W/R	Tgg/Agg		1		-1	IGSF22	HGNC	HGNC:26750	protein_coding	YES	CCDS41625.2	ENSP00000421191	Q8N9C0		UPI0001D3B05B	NM_173588.3	deleterious(0.01)		21/23		PROSITE_profiles:PS50853																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	20	18706935	18706935	A	T	1	0	0	0	0	1	0	0	0	7507	188	7	4		4	IGSF22	11	18706935	Missense_Mutation	SNP	A	C3L-00893_TP	13472923	18706935	116379687	61	7198											
DYNC2H1	0	.	GRCh38	chr11	103253363	103253363	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctctttttgtcaacaagaaAcccaaatccttttattccac	12	14	2	13	0	2	1	1	0	1	1	4	1	4	1	4	0	2	0	4	0	5	5	novel		C3L-00893_TP	C3L-00893_NB	A	A																c.10142A>T	p.Asn3381Ile	p.N3381I	ENST00000398093	67/90	167	137	30	63	63	0	strelka-varscan-mutect	DYNC2H1,missense_variant,p.Asn3374Ile,ENST00000375735,NM_001377.2;DYNC2H1,missense_variant,p.Asn3381Ile,ENST00000398093,NM_001080463.1;DYNC2H1,intron_variant,,ENST00000334267,;	T	ENST00000398093	Transcript	missense_variant	10142/12945	10142/12945	3381/4314	N/I	aAc/aTc		1		1	DYNC2H1	HGNC	HGNC:2962	protein_coding	YES	CCDS44717.1	ENSP00000381167	Q8NCM8		UPI0000481AC7	NM_001080463.1	deleterious(0)		67/90		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF282,Pfam_domain:PF12781																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	20	103253363	103253363	A	T	1	0	0	0	0	1	0	0	0	4670	43	2	4		4	DYNC2H1	11	103253363	Missense_Mutation	SNP	A	C3L-00893_TP	84546428	103253363	31833259	62	7199											
ANO2	0	.	GRCh38	chr12	5922646	5922646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggtgctctctccacCgcagggctggccaggatctc	4	8	14	15	2	2	0	0	0	2	0	5	1	3	1	3	4	2	4	3	4	0	0			C3L-00893_TP	C3L-00893_NB	C	C																c.169G>A	p.Gly57Ser	p.G57S	ENST00000356134	2/27	124	111	13	134	134	0	strelka-varscan-mutect	ANO2,missense_variant,p.Gly57Ser,ENST00000327087,;ANO2,missense_variant,p.Gly57Ser,ENST00000356134,NM_001278597.1,NM_001278596.1;ANO2,missense_variant,p.Gly61Ser,ENST00000546188,;	T	ENST00000356134	Transcript	missense_variant	241/3717	169/3000	57/999	G/S	Ggt/Agt	COSM5375739,COSM5375740,COSM5375741	1		-1	ANO2	HGNC	HGNC:1183	protein_coding	YES	CCDS44807.2	ENSP00000348453	Q9NQ90		UPI00000715DF	NM_001278597.1,NM_001278596.1	tolerated_low_confidence(0.54)		2/27		hmmpanther:PTHR12308:SF20,hmmpanther:PTHR12308											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		rs943604098	.												T	3	4	20	5922646	5922646	C	T	1	0	0	0	0	1	0	0	0	804	652	23	1		1	ANO2	12	5922646	Missense_Mutation	SNP	C	C3L-00893_TP		5922646	127352663	63	7200											
ASIC1	0	.	GRCh38	chr12	50059859	50059859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacccaaacccttcaacatgCgtgagttctacgaccgagct	12	8	7	14	3	2	1	1	1	1	0	2	3	2	1	3	0	6	2	3	0	4	3	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.463C>T	p.Arg155Cys	p.R155C	ENST00000228468	3/12	338	275	63	233	233	0	strelka-varscan-mutect	ASIC1,missense_variant,p.Arg155Cys,ENST00000228468,NM_020039.3;ASIC1,missense_variant,p.Arg155Cys,ENST00000447966,NM_001095.3;ASIC1,upstream_gene_variant,,ENST00000453327,;ASIC1,missense_variant,p.Arg155Cys,ENST00000550558,;	T	ENST00000228468	Transcript	missense_variant	848/4072	463/1725	155/574	R/C	Cgt/Tgt		1		1	ASIC1	HGNC	HGNC:100	protein_coding	YES	CCDS8796.1	ENSP00000228468	P78348		UPI000013C8D6	NM_020039.3	tolerated(0.18)		3/12		hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF170,Gene3D:2qtsA03,Pfam_domain:PF00858																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	20	50059859	50059859	C	T	1	0	0	0	0	1	0	0	0	1185	768	27	1		1	ASIC1	12	50059859	Missense_Mutation	SNP	C	C3L-00893_TP	44137213	50059859	83215450	64	7201											
GALNT6	0	.	GRCh38	chr12	51377344	51377344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtggccagtggggggcagCgccggaacttctggtccaca	6	7	17	11	2	1	0	0	0	1	0	2	1	2	1	3	7	2	1	3	7	1	1	rs146516622		C3L-00893_TP	C3L-00893_NB	C	C																c.515G>C	p.Arg172Pro	p.R172P	ENST00000543196	3/11	329	237	92	190	190	0	strelka-varscan-mutect	GALNT6,missense_variant,p.Arg172Pro,ENST00000543196,;GALNT6,missense_variant,p.Arg172Pro,ENST00000356317,NM_007210.3;GALNT6,downstream_gene_variant,,ENST00000603563,;GALNT6,downstream_gene_variant,,ENST00000605138,;GALNT6,downstream_gene_variant,,ENST00000605617,;GALNT6,downstream_gene_variant,,ENST00000603188,;GALNT6,downstream_gene_variant,,ENST00000604506,;GALNT6,downstream_gene_variant,,ENST00000604381,;GALNT6,downstream_gene_variant,,ENST00000604847,;GALNT6,downstream_gene_variant,,ENST00000605055,;GALNT6,downstream_gene_variant,,ENST00000604426,;GALNT6,downstream_gene_variant,,ENST00000603203,;GALNT6,downstream_gene_variant,,ENST00000605089,;GALNT6,downstream_gene_variant,,ENST00000605822,;GALNT6,downstream_gene_variant,,ENST00000603482,;GALNT6,missense_variant,p.Arg172Pro,ENST00000603641,;	G	ENST00000543196	Transcript	missense_variant	721/5207	515/1869	172/622	R/P	cGc/cCc	rs146516622	1		-1	GALNT6	HGNC	HGNC:4128	protein_coding	YES	CCDS8813.1	ENSP00000444171	Q8NCL4		UPI000013D726		tolerated(0.1)		3/11		hmmpanther:PTHR11675:SF58,hmmpanther:PTHR11675,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		rs146516622	.												G	3	3	20	51377344	51377344	C	G	1	0	0	0	0	1	0	0	0	6088	768	27	4		4	GALNT6	12	51377344	Missense_Mutation	SNP	C	C3L-00893_TP	1317485	51377344	81897965	65	7202											
STAC3	0	.	GRCh38	chr12	57243824	57243824	+	Silent	SNP	T	T	A																															ccgcacgcctaaatttcctcTagaaagtcggtgggaaacag																								novel		C3L-00893_TP	C3L-00893_NB	T	T																c.1083A>T	p.=	p.L361L	ENST00000332782	12/12	346	282	64	309	309	0	strelka-varscan-mutect	STAC3,synonymous_variant,p.=,ENST00000332782,NM_145064.2;STAC3,synonymous_variant,p.=,ENST00000554578,NM_001286256.1;STAC3,synonymous_variant,p.=,ENST00000546246,NM_001286257.1;NDUFA4L2,upstream_gene_variant,,ENST00000393825,;STAC3,downstream_gene_variant,,ENST00000553489,;NDUFA4L2,upstream_gene_variant,,ENST00000557276,;NDUFA4L2,upstream_gene_variant,,ENST00000556234,;STAC3,3_prime_UTR_variant,,ENST00000557176,;STAC3,downstream_gene_variant,,ENST00000554003,;	A	ENST00000332782	Transcript	synonymous_variant	1285/1656	1083/1095	361/364	L	ctA/ctT		1		-1	STAC3	HGNC	HGNC:28423	protein_coding	YES	CCDS8936.1	ENSP00000329200	Q96MF2	A0A024RB38	UPI000006E4D3	NM_145064.2			12/12		hmmpanther:PTHR15135:SF2,hmmpanther:PTHR15135,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044																	LOW		SNV	2			1										PASS		.	.												A	2	1	20	57243824	57243824	T	A	1	0	0	0	0	0	0	0	1	15619	1509	53	4		4	STAC3	12	57243824	Silent	SNP	T	C3L-00893_TP	5866480	57243824	76031485	66	7203	165	2									
STAC3	0	.	GRCh38	chr12	57243825	57243825	+	Missense_Mutation	SNP	A	A	G																															cgcacgcctaaatttcctctAgaaagtcggtgggaaacagc																								novel		C3L-00893_TP	C3L-00893_NB	A	A																c.1082T>C	p.Leu361Pro	p.L361P	ENST00000332782	12/12	349	287	62	313	313	0	strelka-varscan-mutect	STAC3,missense_variant,p.Leu361Pro,ENST00000332782,NM_145064.2;STAC3,missense_variant,p.Leu322Pro,ENST00000554578,NM_001286256.1;STAC3,missense_variant,p.Leu175Pro,ENST00000546246,NM_001286257.1;NDUFA4L2,upstream_gene_variant,,ENST00000393825,;STAC3,downstream_gene_variant,,ENST00000553489,;NDUFA4L2,upstream_gene_variant,,ENST00000557276,;NDUFA4L2,upstream_gene_variant,,ENST00000556234,;STAC3,3_prime_UTR_variant,,ENST00000557176,;STAC3,downstream_gene_variant,,ENST00000554003,;	G	ENST00000332782	Transcript	missense_variant	1284/1656	1082/1095	361/364	L/P	cTa/cCa		1		-1	STAC3	HGNC	HGNC:28423	protein_coding	YES	CCDS8936.1	ENSP00000329200	Q96MF2	A0A024RB38	UPI000006E4D3	NM_145064.2	deleterious(0)		12/12		hmmpanther:PTHR15135:SF2,hmmpanther:PTHR15135,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	20	57243825	57243825	A	G	1	0	0	0	0	1	0	0	0	15619	420	15	5		5	STAC3	12	57243825	Missense_Mutation	SNP	A	C3L-00893_TP	1	57243825	76031484	67	7204	165	2									
ALX1	0	.	GRCh38	chr12	85283634	85283634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgaactgaatagagctatgGacaactgtaacagtctccga	14	8	9	10	2	1	2	0	1	1	1	2	5	1	3	2	1	4	2	2	1	6	3	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.289G>T	p.Asp97Tyr	p.D97Y	ENST00000316824	2/4	296	208	88	217	217	0	strelka-varscan-mutect	ALX1,missense_variant,p.Asp97Tyr,ENST00000316824,NM_006982.2;	T	ENST00000316824	Transcript	missense_variant	444/1445	289/981	97/326	D/Y	Gac/Tac		1		1	ALX1	HGNC	HGNC:1494	protein_coding	YES	CCDS9028.1	ENSP00000315417	Q15699	V9HWA7	UPI000013FEBD	NM_006982.2	deleterious(0)		2/4		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF359																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	20	85283634	85283634	G	T	1	0	0	0	0	1	0	0	0	654	1174	41	2		2	ALX1	12	85283634	Missense_Mutation	SNP	G	C3L-00893_TP	28039809	85283634	47991675	68	7205											
GALNT9	0	.	GRCh38	chr12	132261028	132261028	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagccctgcagccgcgcGcggatcagtccttcccgccg	4	7	11	19	6	1	0	1	0	0	0	4	1	4	1	6	1	3	1	6	1	0	2	rs782365196		C3L-00893_TP	C3L-00893_NB	G	G																c.681C>A	p.=	p.R227R	ENST00000328957	4/11	176	133	43	203	203	0	strelka-varscan-mutect	GALNT9,synonymous_variant,p.=,ENST00000328957,;GALNT9,upstream_gene_variant,,ENST00000411988,;GALNT9,non_coding_transcript_exon_variant,,ENST00000535208,;GALNT9,non_coding_transcript_exon_variant,,ENST00000424720,;	T	ENST00000328957	Transcript	synonymous_variant	681/2410	681/1812	227/603	R	cgC/cgA	rs782365196	1		-1	GALNT9	HGNC	HGNC:4131	protein_coding			ENSP00000329846		J3KNN1	UPI00004566BE				4/11		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF28,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448																	LOW	1	SNV	1			1										PASS		rs782365196	.												T	2	4	20	132261028	132261028	G	T	1	0	0	0	0	0	0	0	1	6091	1074	38	1		1	GALNT9	12	132261028	Silent	SNP	G	C3L-00893_TP	46977394	132261028	1014281	69	7206											
DACH1	0	.	GRCh38	chr13	71559867	71559867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggggagctggacacgCtgctgctgcgatgtgatgat	8	8	17	8	2	0	2	0	2	0	0	0	6	0	4	0	3	5	5	0	3	0	0	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.1388G>T	p.Ser463Ile	p.S463I	ENST00000613252	5/11	103	73	30	106	106	0	strelka-varscan-mutect	DACH1,missense_variant,p.Ser463Ile,ENST00000613252,NM_080759.5;DACH1,missense_variant,p.Ser515Ile,ENST00000619232,;DACH1,intron_variant,,ENST00000611519,NM_080760.5;DACH1,intron_variant,,ENST00000620444,NM_004392.6;	A	ENST00000613252	Transcript	missense_variant	1811/5233	1388/2121	463/706	S/I	aGc/aTc		1		-1	DACH1	HGNC	HGNC:2663	protein_coding	YES	CCDS41899.1	ENSP00000482245	Q9UI36		UPI000007308B	NM_080759.5	deleterious_low_confidence(0)		5/11		Low_complexity_(Seg):seg,hmmpanther:PTHR12577:SF14,hmmpanther:PTHR12577																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	20	71559867	71559867	C	A	1	0	0	0	0	1	0	0	0	4021	797	28	2		2	DACH1	13	71559867	Missense_Mutation	SNP	C	C3L-00893_TP		71559867	42804461	70	7207											
OR4K17	0	.	GRCh38	chr14	20118326	20118326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttccttgctgtgttttataCcatcatcactcctatcttga	7	18	5	11	0	3	1	2	1	1	0	5	1	5	1	3	0	2	3	3	0	3	7	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.920C>T	p.Thr307Ile	p.T307I	ENST00000315543	1/1	201	162	39	159	158	1	strelka-varscan-mutect	OR4K17,missense_variant,p.Thr307Ile,ENST00000315543,NM_001004715.1;	T	ENST00000315543	Transcript	missense_variant	920/1032	920/1032	307/343	T/I	aCc/aTc		1		1	OR4K17	HGNC	HGNC:15355	protein_coding	YES	CCDS32030.1	ENSP00000319197	Q8NGC6	A0A126GVZ4	UPI000004B1EA	NM_001004715.1	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF322,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1332380344	.												T	3	4	20	20118326	20118326	C	T	1	0	0	0	0	1	0	0	0	11148	507	18	3		3	OR4K17	14	20118326	Missense_Mutation	SNP	C	C3L-00893_TP		20118326	86925392	71	7208											
NKX2-1	0	.	GRCh38	chr14	36517753	36517753	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcctggcgcttcattttgTagcggtggttctggaaccag	5	13	14	9	2	2	0	1	0	1	0	2	1	2	1	2	5	2	3	2	5	2	5	novel		C3L-00893_TP	C3L-00893_NB	T	T																c.731A>G	p.Tyr244Cys	p.Y244C	ENST00000354822	3/3	826	756	70	639	639	0	strelka-varscan-mutect	NKX2-1,missense_variant,p.Tyr214Cys,ENST00000518149,;NKX2-1,missense_variant,p.Tyr214Cys,ENST00000498187,NM_003317.3;NKX2-1,missense_variant,p.Tyr244Cys,ENST00000354822,NM_001079668.2;NKX2-1,missense_variant,p.Tyr214Cys,ENST00000522719,;SFTA3,upstream_gene_variant,,ENST00000518529,NM_001101341.1;NKX2-1,downstream_gene_variant,,ENST00000546983,;RP11-964E11.3,intron_variant,,ENST00000634305,;NKX2-1-AS1,upstream_gene_variant,,ENST00000521292,;RP11-896J10.3,intron_variant,,ENST00000521945,;SFTA3,upstream_gene_variant,,ENST00000518987,;SFTA3,upstream_gene_variant,,ENST00000521114,;SFTA3,upstream_gene_variant,,ENST00000418548,;SFTA3,upstream_gene_variant,,ENST00000518446,;SFTA3,upstream_gene_variant,,ENST00000518002,;SFTA3,upstream_gene_variant,,ENST00000524122,;	C	ENST00000354822	Transcript	missense_variant	830/2191	731/1206	244/401	Y/C	tAc/tGc		1		-1	NKX2-1	HGNC	HGNC:11825	protein_coding	YES	CCDS41945.1	ENSP00000346879	P43699		UPI000007328C	NM_001079668.2	deleterious(0)		3/3		PROSITE_profiles:PS50071,hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF33,PROSITE_patterns:PS00027,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	20	36517753	36517753	T	C	1	0	0	0	0	1	0	0	0	10485	1638	57	5		5	NKX2-1	14	36517753	Missense_Mutation	SNP	T	C3L-00893_TP	16399427	36517753	70525965	72	7209											
SLC35F4	0	.	GRCh38	chr14	57581350	57581350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaaggtaattagtcaaaGtccatagaatagaaaaggga	21	8	9	3	0	1	2	1	0	0	2	2	3	2	3	1	2	0	1	1	2	11	5	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.671C>A	p.Thr224Asn	p.T224N	ENST00000556826	4/8	174	136	38	137	137	0	strelka-varscan-mutect	SLC35F4,missense_variant,p.Thr224Asn,ENST00000556826,NM_001306087.1,NM_001206920.1;SLC35F4,missense_variant,p.Thr260Asn,ENST00000339762,;SLC35F4,missense_variant,p.Thr101Asn,ENST00000554729,;RP11-409I10.2,downstream_gene_variant,,ENST00000555600,;SLC35F4,missense_variant,p.Thr101Asn,ENST00000557254,;SLC35F4,upstream_gene_variant,,ENST00000556306,;	T	ENST00000556826	Transcript	missense_variant	908/1908	671/1458	224/485	T/N	aCt/aAt		1		-1	SLC35F4	HGNC	HGNC:19845	protein_coding	YES	CCDS76684.1	ENSP00000452086		G3V4Z9	UPI000045678B	NM_001306087.1,NM_001206920.1	deleterious(0)		4/8		Low_complexity_(Seg):seg,hmmpanther:PTHR19346:SF2,hmmpanther:PTHR19346,Superfamily_domains:0043518,Transmembrane_helices:TMhelix																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	20	57581350	57581350	G	T	1	0	0	0	0	1	0	0	0	14862	1029	36	2		2	SLC35F4	14	57581350	Missense_Mutation	SNP	G	C3L-00893_TP	21063597	57581350	49462368	73	7210											
UNC79	0	.	GRCh38	chr14	93477703	93477703	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatatcattgaatatcttagCacatcttttctaccaatggc	12	15	5	9	0	4	1	1	1	3	0	4	2	4	1	1	1	2	1	1	1	6	7	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.63C>G	p.Ser21Arg	p.S21R	ENST00000256339	4/50	69	53	16	37	37	0	strelka-varscan-mutect	UNC79,missense_variant,p.Ser198Arg,ENST00000553484,;UNC79,missense_variant,p.Ser198Arg,ENST00000555664,;UNC79,missense_variant,p.Ser21Arg,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Ser198Arg,ENST00000393151,;UNC79,missense_variant,p.Ser21Arg,ENST00000621021,;	G	ENST00000256339	Transcript	missense_variant	718/8400	63/7377	21/2458	S/R	agC/agG		1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3	deleterious(0)		4/50		hmmpanther:PTHR21696:SF2,hmmpanther:PTHR21696,Pfam_domain:PF14776																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	20	93477703	93477703	C	G	1	0	0	0	0	1	0	0	0	17520	709	25	4		4	UNC79	14	93477703	Missense_Mutation	SNP	C	C3L-00893_TP	35896353	93477703	13566015	74	7211											
GOLGA8K	0	.	GRCh38	chr15	32396434	32396434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagacttatgcgctgattCtttttgacctgggcctggag	7	13	13	8	1	1	3	0	2	1	1	1	5	1	4	2	3	1	1	2	3	1	4	rs200425540		C3L-00893_TP	C3L-00893_NB	C	C																c.984G>C	p.Lys328Asn	p.K328N	ENST00000512626	12/19	308	292	16	254	249	5	varscan-mutect	GOLGA8K,missense_variant,p.Lys328Asn,ENST00000512626,NM_001282493.1;RN7SL185P,upstream_gene_variant,,ENST00000615150,;RP13-395E19.3,downstream_gene_variant,,ENST00000562108,;	G	ENST00000512626	Transcript	missense_variant	985/1894	984/1893	328/630	K/N	aaG/aaC	rs200425540	1		-1	GOLGA8K	HGNC	HGNC:38652	protein_coding	YES	CCDS61577.1	ENSP00000426691	D6RF30		UPI0001A5E7CC	NM_001282493.1	tolerated(1)		12/19		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15070,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48																	MODERATE		SNV	5			1										PASS		rs4042395	.												G	3	3	20	32396434	32396434	C	G	1	0	0	0	0	1	0	0	0	6453	912	32	4		4	GOLGA8K	15	32396434	Missense_Mutation	SNP	C	C3L-00893_TP		32396434	69594755	75	7212											
AVEN	0	.	GRCh38	chr15	34003157	34003157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctttcttttagaataatttCcctgttcatcattctcttct	7	22	2	10	0	6	1	2	0	4	1	8	1	7	1	1	0	0	1	1	0	3	8	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.320G>A	p.Gly107Glu	p.G107E	ENST00000306730	2/6	136	93	43	118	118	0	strelka-varscan-mutect	AVEN,missense_variant,p.Gly107Glu,ENST00000306730,NM_020371.2;CHRM5,intron_variant,,ENST00000383263,NM_012125.3;CHRM5,intron_variant,,ENST00000560035,;	T	ENST00000306730	Transcript	missense_variant	450/1605	320/1089	107/362	G/E	gGa/gAa		1		-1	AVEN	HGNC	HGNC:13509	protein_coding	YES	CCDS10030.1	ENSP00000306822	Q9NQS1		UPI000012666A	NM_020371.2	tolerated(0.33)		2/6		hmmpanther:PTHR16524																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	20	34003157	34003157	C	T	1	0	0	0	0	1	0	0	0	1382	855	30	3		3	AVEN	15	34003157	Missense_Mutation	SNP	C	C3L-00893_TP	1606723	34003157	67988032	76	7213											
CELF6	0	.	GRCh38	chr15	72290226	72290226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctcaccctgctgcttgcCcagcatccccacaaacagct	8	8	5	20	0	1	0	1	0	0	0	3	0	3	0	5	0	6	4	5	0	1	1	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.424G>T	p.Gly142Cys	p.G142C	ENST00000287202	4/13	182	135	47	153	153	0	strelka-varscan-mutect	CELF6,missense_variant,p.Gly142Cys,ENST00000287202,NM_052840.4;CELF6,missense_variant,p.Gly29Cys,ENST00000395258,;CELF6,missense_variant,p.Gly27Cys,ENST00000543764,NM_001172685.1;CELF6,missense_variant,p.Gly142Cys,ENST00000567083,NM_001172684.1;RP11-106M3.3,intron_variant,,ENST00000570175,;CELF6,missense_variant,p.Trp96Cys,ENST00000437872,;RP11-106M3.5,missense_variant,p.Gly142Cys,ENST00000569547,;RP11-106M3.2,3_prime_UTR_variant,,ENST00000379915,;	A	ENST00000287202	Transcript	missense_variant	679/3345	424/1446	142/481	G/C	Ggc/Tgc		1		-1	CELF6	HGNC	HGNC:14059	protein_coding	YES	CCDS10242.1	ENSP00000287202	Q96J87		UPI000006F0AA	NM_052840.4	deleterious(0.04)		4/13		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF385,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	20	72290226	72290226	C	A	1	0	0	0	0	1	0	0	0	2927	623	22	2		2	CELF6	15	72290226	Missense_Mutation	SNP	C	C3L-00893_TP	38287069	72290226	29700963	77	7214											
ISL2	0	.	GRCh38	chr15	76340542	76340542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcagctgcagcagcagCagcacagcgacaagacggtg	13	3	14	11	2	0	2	0	1	0	1	0	3	0	2	0	1	8	7	0	1	2	0	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.778C>A	p.Gln260Lys	p.Q260K	ENST00000290759	4/6	110	76	34	97	97	0	strelka-varscan-mutect	ISL2,missense_variant,p.Gln260Lys,ENST00000290759,NM_145805.2;RP11-685G9.4,upstream_gene_variant,,ENST00000602530,;RP11-685G9.2,intron_variant,,ENST00000559539,;ISL2,missense_variant,p.Ala172Glu,ENST00000558656,;ISL2,downstream_gene_variant,,ENST00000558437,;	A	ENST00000290759	Transcript	missense_variant	938/1881	778/1080	260/359	Q/K	Cag/Aag		1		1	ISL2	HGNC	HGNC:18524	protein_coding	YES	CCDS10290.1	ENSP00000290759	Q96A47		UPI000012D8FC	NM_145805.2	tolerated(0.25)		4/6		hmmpanther:PTHR24204:SF2,hmmpanther:PTHR24204																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	20	76340542	76340542	C	A	1	0	0	0	0	1	0	0	0	7764	711	25	2		2	ISL2	15	76340542	Missense_Mutation	SNP	C	C3L-00893_TP	4050316	76340542	25650647	78	7215											
CACNA1H	0	.	GRCh38	chr16	1209319	1209319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccaagtgccgcgatcgCgacgggcaggtggtggccct	6	6	15	14	5	0	0	0	0	0	0	1	2	0	0	4	4	2	1	4	4	2	1	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.3651C>T	p.=	p.R1217R	ENST00000348261	17/35	453	409	44	522	522	0	strelka-varscan-mutect	CACNA1H,synonymous_variant,p.=,ENST00000348261,NM_021098.2;CACNA1H,synonymous_variant,p.=,ENST00000358590,NM_001005407.1;CACNA1H,synonymous_variant,p.=,ENST00000565831,;CACNA1H,upstream_gene_variant,,ENST00000569107,;CACNA1H,upstream_gene_variant,,ENST00000564231,;CACNA1H,upstream_gene_variant,,ENST00000562079,;RP11-616M22.3,upstream_gene_variant,,ENST00000564700,;CACNA1H,upstream_gene_variant,,ENST00000637236,;CACNA1H,upstream_gene_variant,,ENST00000569953,;	T	ENST00000348261	Transcript	synonymous_variant	4019/8208	3651/7062	1217/2353	R	cgC/cgT		1		1	CACNA1H	HGNC	HGNC:1395	protein_coding	YES	CCDS45375.1	ENSP00000334198	O95180		UPI000012727B	NM_021098.2			17/35																			LOW	1	SNV	1			1										PASS		rs929083218	.												T	2	4	20	1209319	1209319	C	T	1	0	0	0	0	0	0	0	1	2233	755	27	1		1	CACNA1H	16	1209319	Silent	SNP	C	C3L-00893_TP		1209319	89129026	79	7216											
SALL1	0	.	GRCh38	chr16	51138908	51138908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccagacgggacgtgactgGtgggggtgtccttactgtcc	5	9	16	11	2	0	2	0	1	0	1	2	3	2	3	3	4	1	0	3	4	1	1	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.3314C>A	p.Thr1105Asn	p.T1105N	ENST00000251020	2/3	733	547	186	443	443	0	strelka-varscan-mutect	SALL1,missense_variant,p.Thr1008Asn,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Thr1105Asn,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Thr1008Asn,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	T	ENST00000251020	Transcript	missense_variant	3348/5146	3314/3975	1105/1324	T/N	aCc/aAc		1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	tolerated(0.19)		2/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	20	51138908	51138908	G	T	1	0	0	0	0	1	0	0	0	14069	1261	44	2		2	SALL1	16	51138908	Missense_Mutation	SNP	G	C3L-00893_TP	49929589	51138908	39199437	80	7217											
WDR81	0	.	GRCh38	chr17	1726296	1726296	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccacatctcagacgtgctctCcgacatcacgtactatgtgt	9	11	7	14	3	3	1	2	0	2	1	5	2	3	1	2	0	2	2	2	0	2	2	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.1337C>G	p.Ser446Cys	p.S446C	ENST00000409644	1/10	74	59	15	48	48	0	strelka-varscan-mutect	WDR81,missense_variant,p.Ser446Cys,ENST00000409644,NM_001163809.1;WDR81,intron_variant,,ENST00000309182,NM_152348.3;WDR81,intron_variant,,ENST00000419248,NM_001163811.1;WDR81,intron_variant,,ENST00000437219,NM_001163673.1;WDR81,intron_variant,,ENST00000446363,;WDR81,intron_variant,,ENST00000418841,;WDR81,intron_variant,,ENST00000455636,;WDR81,intron_variant,,ENST00000468539,;WDR81,upstream_gene_variant,,ENST00000575206,;RP11-961A15.1,intron_variant,,ENST00000576540,;WDR81,intron_variant,,ENST00000492901,;WDR81,upstream_gene_variant,,ENST00000464528,;WDR81,upstream_gene_variant,,ENST00000479966,;WDR81,upstream_gene_variant,,ENST00000474958,;WDR81,upstream_gene_variant,,ENST00000495411,;	G	ENST00000409644	Transcript	missense_variant	1337/6733	1337/5826	446/1941	S/C	tCc/tGc		1		1	WDR81	HGNC	HGNC:26600	protein_coding	YES	CCDS54062.1	ENSP00000386609	Q562E7		UPI0001881A85	NM_001163809.1	deleterious(0)		1/10		PROSITE_profiles:PS50197,Pfam_domain:PF02138,Gene3D:1t77A02,SMART_domains:SM01026,Superfamily_domains:SSF81837																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	20	1726296	1726296	C	G	1	0	0	0	0	1	0	0	0	17885	855	30	4		4	WDR81	17	1726296	Missense_Mutation	SNP	C	C3L-00893_TP		1726296	81531145	81	7218											
ZBTB4	0	.	GRCh38	chr17	7463027	7463029	+	In_Frame_Del	DEL	TCA	TCA	-																															caccagcctttgattcctccTcatcctcctcctcctcctct																								rs753552629		C3L-00893_TP	C3L-00893_NB	TCA	TCA																c.1953_1955delTGA	p.Asp651del	p.D651del	ENST00000311403	4/4	132	124	8	114	114	0	varindel-pindel	ZBTB4,inframe_deletion,p.Asp651del,ENST00000311403,NM_020899.3;ZBTB4,inframe_deletion,p.Asp651del,ENST00000380599,NM_001128833.1;	-	ENST00000311403	Transcript	inframe_deletion	2293-2295/5956	1953-1955/3042	651-652/1013	DE/E	gaTGAg/gag	rs753552629,COSM2741618,COSM2741619	1		-1	ZBTB4	HGNC	HGNC:23847	protein_coding	YES	CCDS11107.1	ENSP00000307858	Q9P1Z0		UPI00001A9C9A	NM_020899.3			4/4		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF302											0,1,1						MODERATE	1	deletion	1		0,1,1	1										PASS		.	.												-	7	5	20	7463027	7463027	TCA	-	1	0	1	0	1	0	0	0	0	18110	1551	54	0		0	ZBTB4	17	7463027	In_Frame_Del	DEL	TCA	C3L-00893_TP	5736731	7463027	75794414	82	7219											
PPM1D	0	.	GRCh38	chr17	60663148	60663148	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataccctcaaaagatccaGaaccacttgaagaaaattgc	17	8	5	11	0	2	4	2	1	0	3	3	4	3	4	3	0	3	0	3	0	7	3			C3L-00893_TP	C3L-00893_NB	G	G																c.1414G>T	p.Glu472Ter	p.E472*	ENST00000305921	6/6	271	210	61	220	220	0	strelka-varscan-mutect	PPM1D,stop_gained,p.Glu472Ter,ENST00000305921,NM_003620.3;AC110602.1,upstream_gene_variant,,ENST00000625901,;RNU6-623P,upstream_gene_variant,,ENST00000363143,;PPM1D,3_prime_UTR_variant,,ENST00000392995,;	T	ENST00000305921	Transcript	stop_gained	1646/4778	1414/1818	472/605	E/*	Gaa/Taa	COSM1736844	1		1	PPM1D	HGNC	HGNC:9277	protein_coding	YES	CCDS11625.1	ENSP00000306682	O15297	A0A0S2Z4M2	UPI0000130FE8	NM_003620.3			6/6													1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	20	60663148	60663148	G	T	1	0	0	0	0	0	1	0	0	12447	943	33	2		2	PPM1D	17	60663148	Nonsense_Mutation	SNP	G	C3L-00893_TP	53200121	60663148	22594293	83	7220											
PRCD	0	.	GRCh38	chr17	76540189	76540189	+	Silent	SNP	C	C	A																															accctggccatgctctggcgCcgccgatttgccaaccgagt																								novel		C3L-00893_TP	C3L-00893_NB	C	C																c.48C>A	p.=	p.R16R	ENST00000586148	1/4	334	268	66	273	273	0	strelka-varscan-mutect	PRCD,synonymous_variant,p.=,ENST00000586148,;PRCD,synonymous_variant,p.=,ENST00000592014,NM_001077620.2;CYGB,intron_variant,,ENST00000589145,;CYGB,upstream_gene_variant,,ENST00000293230,NM_134268.4;CYGB,upstream_gene_variant,,ENST00000589342,;PRCD,intron_variant,,ENST00000592432,;PRCD,intron_variant,,ENST00000397633,;PRCD,intron_variant,,ENST00000465808,;PRCD,intron_variant,,ENST00000590555,;PRCD,upstream_gene_variant,,ENST00000591317,;PRCD,upstream_gene_variant,,ENST00000587289,;PRCD,upstream_gene_variant,,ENST00000592340,;PRCD,upstream_gene_variant,,ENST00000587813,;PRCD,upstream_gene_variant,,ENST00000397630,;	A	ENST00000586148	Transcript	synonymous_variant	100/630	48/165	16/54	R	cgC/cgA		1		1	PRCD	HGNC	HGNC:32528	protein_coding	YES	CCDS42382.1	ENSP00000465932	Q00LT1		UPI000047DE08				1/4		Pfam_domain:PF15201,hmmpanther:PTHR38501,hmmpanther:PTHR38501:SF1,Cleavage_site_(Signalp):SignalP-noTM																	LOW		SNV	5			1										PASS		.	.												A	2	1	20	76540189	76540189	C	A	1	0	0	0	0	0	0	0	1	12579	726	26	2		2	PRCD	17	76540189	Silent	SNP	C	C3L-00893_TP	15877041	76540189	6717252	84	7221	166	2									
PRCD	0	.	GRCh38	chr17	76540190	76540190	+	Missense_Mutation	SNP	C	C	A																															ccctggccatgctctggcgcCgccgatttgccaaccgagtc																								rs375181336		C3L-00893_TP	C3L-00893_NB	C	C																c.49C>A	p.Arg17Ser	p.R17S	ENST00000586148	1/4	330	265	65	275	275	0	strelka-varscan-mutect	PRCD,missense_variant,p.Arg17Ser,ENST00000586148,;PRCD,missense_variant,p.Arg17Ser,ENST00000592014,NM_001077620.2;CYGB,intron_variant,,ENST00000589145,;CYGB,upstream_gene_variant,,ENST00000293230,NM_134268.4;CYGB,upstream_gene_variant,,ENST00000589342,;PRCD,intron_variant,,ENST00000592432,;PRCD,intron_variant,,ENST00000397633,;PRCD,intron_variant,,ENST00000465808,;PRCD,intron_variant,,ENST00000590555,;PRCD,upstream_gene_variant,,ENST00000591317,;PRCD,upstream_gene_variant,,ENST00000587289,;PRCD,upstream_gene_variant,,ENST00000592340,;PRCD,upstream_gene_variant,,ENST00000587813,;PRCD,upstream_gene_variant,,ENST00000397630,;	A	ENST00000586148	Transcript	missense_variant	101/630	49/165	17/54	R/S	Cgc/Agc	rs375181336	1		1	PRCD	HGNC	HGNC:32528	protein_coding	YES	CCDS42382.1	ENSP00000465932	Q00LT1		UPI000047DE08		deleterious_low_confidence(0)		1/4		Pfam_domain:PF15201,hmmpanther:PTHR38501,hmmpanther:PTHR38501:SF1,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE		SNV	5			1										PASS		rs375181336	.												A	3	1	20	76540190	76540190	C	A	1	0	0	0	0	1	0	0	0	12579	652	23	1		1	PRCD	17	76540190	Missense_Mutation	SNP	C	C3L-00893_TP	1	76540190	6717251	85	7222	166	2									
DNAH17	0	.	GRCh38	chr17	78507533	78507533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgtcttcggagccgatGaagatgctctccaggtggct	7	10	14	10	3	2	2	0	1	2	1	4	5	2	4	2	4	2	2	2	4	1	1	rs780954162		C3L-00893_TP	C3L-00893_NB	G	G																c.4509C>A	p.Phe1503Leu	p.F1503L	ENST00000389840	28/81	334	227	107	186	186	0	strelka-varscan-mutect	DNAH17,missense_variant,p.Phe1503Leu,ENST00000389840,NM_173628.3;DNAH17,missense_variant,p.Phe1500Leu,ENST00000585328,;DNAH17,non_coding_transcript_exon_variant,,ENST00000587177,;DNAH17-AS1,downstream_gene_variant,,ENST00000598378,;	T	ENST00000389840	Transcript	missense_variant	4634/13723	4509/13389	1503/4462	F/L	ttC/ttA	rs780954162	1		-1	DNAH17	HGNC	HGNC:2946	protein_coding	YES		ENSP00000374490	Q9UFH2		UPI0001B25601	NM_173628.3	deleterious(0)		28/81		Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF284																	MODERATE		SNV	5			1										PASS		rs780954162	.												T	3	4	20	78507533	78507533	G	T	1	0	0	0	0	1	0	0	0	4416	1281	45	2		2	DNAH17	17	78507533	Missense_Mutation	SNP	G	C3L-00893_TP	1967343	78507533	4749908	86	7223											
YES1	0	.	GRCh38	chr18	751806	751806	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaatatagtaacaccaccTatcagagggaaaaaagacca	21	5	6	9	0	1	2	1	0	0	2	1	3	1	3	3	1	1	1	3	1	8	4	novel		C3L-00893_TP	C3L-00893_NB	T	T																c.272-2A>G		p.X91_splice	ENST00000584307		39	25	14	41	41	0	strelka-varscan-mutect	YES1,splice_acceptor_variant,,ENST00000584307,;YES1,splice_acceptor_variant,,ENST00000577961,;YES1,splice_acceptor_variant,,ENST00000314574,NM_005433.3;YES1,splice_acceptor_variant,,ENST00000577611,;YES1,downstream_gene_variant,,ENST00000581960,;	C	ENST00000584307	Transcript	splice_acceptor_variant	-/4639	272/1632	91/543				1		-1	YES1	HGNC	HGNC:12841	protein_coding	YES	CCDS11824.1	ENSP00000462468	P07947		UPI0000062316					2/11																		HIGH	1	SNV	1			1										PASS		rs542657377	.												C	5	2	20	751806	751806	T	C	1	0	0	0	0	0	0	1	0	18036	1536	53	5		5	YES1	18	751806	Splice_Site	SNP	T	C3L-00893_TP		751806	79621479	87	7224											
NFATC1	0	.	GRCh38	chr18	79448897	79448897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaccgcatcacagggaagaCcgtgtccaccaccagccacg	11	3	10	17	3	1	1	1	0	0	1	2	2	2	2	6	1	1	2	6	1	1	0	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.1502C>A	p.Thr501Asn	p.T501N	ENST00000427363	4/10	422	312	110	385	383	2	strelka-varscan-mutect	NFATC1,missense_variant,p.Thr501Asn,ENST00000591814,NM_172390.2;NFATC1,missense_variant,p.Thr501Asn,ENST00000253506,NM_006162.4;NFATC1,missense_variant,p.Thr488Asn,ENST00000329101,NM_172387.2;NFATC1,missense_variant,p.Thr488Asn,ENST00000318065,NM_172389.2;NFATC1,missense_variant,p.Thr29Asn,ENST00000545796,NM_001278673.1;NFATC1,missense_variant,p.Thr29Asn,ENST00000397790,NM_172388.2;NFATC1,missense_variant,p.Thr501Asn,ENST00000427363,NM_001278669.1;NFATC1,missense_variant,p.Thr488Asn,ENST00000592223,NM_001278675.1;NFATC1,missense_variant,p.Thr501Asn,ENST00000587635,;NFATC1,missense_variant,p.Thr501Asn,ENST00000542384,NM_001278670.1;NFATC1,missense_variant,p.Thr488Asn,ENST00000586434,NM_001278672.1;NFATC1,non_coding_transcript_exon_variant,,ENST00000590224,;NFATC1,3_prime_UTR_variant,,ENST00000590313,;NFATC1,non_coding_transcript_exon_variant,,ENST00000591065,;NFATC1,upstream_gene_variant,,ENST00000591089,;	A	ENST00000427363	Transcript	missense_variant	1502/2832	1502/2832	501/943	T/N	aCc/aAc		1		1	NFATC1	HGNC	HGNC:7775	protein_coding	YES	CCDS62467.1	ENSP00000389377	O95644		UPI000012FFB5	NM_001278669.1	deleterious(0)		4/10		PROSITE_profiles:PS50254,hmmpanther:PTHR12533:SF5,hmmpanther:PTHR12533,Gene3D:2.60.40.340,Pfam_domain:PF00554,Superfamily_domains:SSF49417																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	20	79448897	79448897	C	A	1	0	0	0	0	1	0	0	0	10398	507	18	2		2	NFATC1	18	79448897	Missense_Mutation	SNP	C	C3L-00893_TP	78697091	79448897	924388	88	7225											
MUC16	0	.	GRCh38	chr19	8938522	8938522	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttcaccaggggagtttgtCagagctcgattagttgtact	8	13	13	7	1	2	1	2	0	0	1	3	3	2	2	1	3	2	5	1	3	2	5	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.32433G>A	p.=	p.L10811L	ENST00000397910	5/84	336	261	75	287	287	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	synonymous_variant	32637/43816	32433/43524	10811/14507	L	ctG/ctA		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			5/84																			LOW	1	SNV	5			1										PASS		rs1238667852	.												T	2	4	20	8938522	8938522	C	T	1	0	0	0	0	0	0	0	1	9972	813	29	3		3	MUC16	19	8938522	Silent	SNP	C	C3L-00893_TP		8938522	49679094	89	7226											
ELAVL3	0	.	GRCh38	chr19	11458139	11458139	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtgggtgagcagcgccTgccccgtcttctgacttggg	5	9	16	11	2	2	3	0	2	2	1	2	3	2	3	3	3	3	1	3	3	0	2	novel		C3L-00893_TP	C3L-00893_NB	T	T																c.635A>T	p.Gln212Leu	p.Q212L	ENST00000359227	5/7	629	438	191	421	419	2	strelka-varscan-mutect	ELAVL3,missense_variant,p.Gln212Leu,ENST00000359227,NM_001420.3;ELAVL3,missense_variant,p.Gln212Leu,ENST00000438662,NM_032281.2;	A	ENST00000359227	Transcript	missense_variant	1060/4729	635/1104	212/367	Q/L	cAg/cTg		1		-1	ELAVL3	HGNC	HGNC:3314	protein_coding	YES	CCDS32912.1	ENSP00000352162	Q14576		UPI0000129E75	NM_001420.3	tolerated(0.23)		5/7		hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF351,TIGRFAM_domain:TIGR01661,Superfamily_domains:SSF54928																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	20	11458139	11458139	T	A	1	0	0	0	0	1	0	0	0	4884	1580	55	4		4	ELAVL3	19	11458139	Missense_Mutation	SNP	T	C3L-00893_TP	2519617	11458139	47159477	90	7227											
EPS8L1	0	.	GRCh38	chr19	55086881	55086881	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgcaggccaagggctttAgctccgggtgagtggggccg	5	7	19	10	2	0	1	0	1	0	0	1	1	1	1	3	6	2	4	3	6	2	2	novel		C3L-00893_TP	C3L-00893_NB	A	A																c.1945A>C	p.Ser649Arg	p.S649R	ENST00000201647	18/20	43	33	10	44	44	0	strelka-varscan-mutect	EPS8L1,missense_variant,p.Ser649Arg,ENST00000201647,NM_133180.2;EPS8L1,missense_variant,p.Ser585Arg,ENST00000540810,;EPS8L1,missense_variant,p.Ser522Arg,ENST00000245618,NM_017729.3;EPS8L1,missense_variant,p.Ser335Arg,ENST00000588359,;EPS8L1,intron_variant,,ENST00000586329,;PPP1R12C,downstream_gene_variant,,ENST00000263433,NM_017607.3,NM_001271618.1;PPP1R12C,downstream_gene_variant,,ENST00000435544,;PPP1R12C,downstream_gene_variant,,ENST00000592993,;PPP1R12C,downstream_gene_variant,,ENST00000591938,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000587901,;EPS8L1,downstream_gene_variant,,ENST00000592824,;EPS8L1,downstream_gene_variant,,ENST00000585347,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592102,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000589362,;EPS8L1,downstream_gene_variant,,ENST00000587786,;PPP1R12C,downstream_gene_variant,,ENST00000590268,;EPS8L1,upstream_gene_variant,,ENST00000587715,;EPS8L1,downstream_gene_variant,,ENST00000592284,;EPS8L1,downstream_gene_variant,,ENST00000590610,;EPS8L1,downstream_gene_variant,,ENST00000589694,;	C	ENST00000201647	Transcript	missense_variant	2001/2536	1945/2172	649/723	S/R	Agc/Cgc		1		1	EPS8L1	HGNC	HGNC:21295	protein_coding	YES	CCDS12914.1	ENSP00000201647	Q8TE68		UPI000013C630	NM_133180.2	deleterious(0)		18/20		hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	20	55086881	55086881	A	C	1	0	0	0	0	1	0	0	0	5043	420	15	5		5	EPS8L1	19	55086881	Missense_Mutation	SNP	A	C3L-00893_TP	43628742	55086881	3530735	91	7228											
ZNF304	0	.	GRCh38	chr19	57356228	57356228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagaaactgtgcacacgtgGgctgtgtaggagaagattct	12	9	13	7	1	1	3	0	0	1	3	1	4	1	3	0	2	2	3	0	2	3	2	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.500G>A	p.Gly167Glu	p.G167E	ENST00000443917	4/4	232	182	50	152	152	0	strelka-varscan-mutect	ZNF304,missense_variant,p.Gly120Glu,ENST00000391705,NM_020657.3;ZNF304,missense_variant,p.Gly120Glu,ENST00000282286,;ZNF304,missense_variant,p.Gly167Glu,ENST00000443917,NM_001290318.1;ZNF304,missense_variant,p.Gly78Glu,ENST00000598744,NM_001290319.1;CTC-444N24.13,upstream_gene_variant,,ENST00000597973,;	A	ENST00000443917	Transcript	missense_variant	839/3391	500/2121	167/706	G/E	gGg/gAg		1		1	ZNF304	HGNC	HGNC:13505	protein_coding	YES	CCDS77365.1	ENSP00000401642		E7EQD3	UPI00015DFA73	NM_001290318.1	tolerated(0.25)		4/4		PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF205,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	20	57356228	57356228	G	A	1	0	0	0	0	1	0	0	0	18408	1232	43	3		3	ZNF304	19	57356228	Missense_Mutation	SNP	G	C3L-00893_TP	2269347	57356228	1261388	92	7229											
SIGLEC1	0	.	GRCh38	chr20	3690135	3690135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccctggggctgactggagGccaccagtcgactgccaagg	8	5	14	14	1	0	1	0	1	0	0	1	3	0	2	4	5	1	1	4	5	1	0	rs746740761		C3L-00893_TP	C3L-00893_NB	G	G																c.4721C>A	p.Ala1574Asp	p.A1574D	ENST00000344754	18/21	347	248	99	271	271	0	strelka-varscan-mutect	SIGLEC1,missense_variant,p.Ala1574Asp,ENST00000344754,NM_023068.3;SIGLEC1,missense_variant,p.Ala388Asp,ENST00000419548,;	T	ENST00000344754	Transcript	missense_variant	4721/6720	4721/5130	1574/1709	A/D	gCc/gAc	rs746740761	1		-1	SIGLEC1	HGNC	HGNC:11127	protein_coding	YES	CCDS13060.1	ENSP00000341141	Q9BZZ2		UPI0000049BA6	NM_023068.3	deleterious(0)		18/21		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF70,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs746740761	.												T	3	4	20	3690135	3690135	G	T	1	0	0	0	0	1	0	0	0	14569	1203	42	2		2	SIGLEC1	20	3690135	Missense_Mutation	SNP	G	C3L-00893_TP		3690135	60754032	93	7230											
DTD1	0	.	GRCh38	chr20	18744231	18744231	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggggctgagggcgacgtGtcctctgaacgggagccgta	7	6	18	10	5	1	2	0	2	1	0	2	4	2	3	2	4	3	2	2	4	2	1	novel		C3L-00893_TP	C3L-00893_NB	G	G																c.609G>T	p.=	p.V203V	ENST00000377452	5/6	252	184	68	185	185	0	strelka-varscan-mutect	DTD1,synonymous_variant,p.=,ENST00000377452,NM_080820.4;DTD1,downstream_gene_variant,,ENST00000618693,;	T	ENST00000377452	Transcript	synonymous_variant	789/1387	609/630	203/209	V	gtG/gtT		1		1	DTD1	HGNC	HGNC:16219	protein_coding	YES	CCDS13138.1	ENSP00000366672	Q8TEA8		UPI000013D2D6	NM_080820.4			5/6		hmmpanther:PTHR10472																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	20	18744231	18744231	G	T	1	0	0	0	0	0	0	0	1	4607	1364	48	2		2	DTD1	20	18744231	Silent	SNP	G	C3L-00893_TP	15054096	18744231	45699936	94	7231											
MRPL39	0	.	GRCh38	chr21	25601399	25601399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctctgaccaaattgacCatatattcatctttgaatgc	12	13	7	9	0	3	3	1	3	2	0	3	4	3	4	2	1	2	1	2	1	4	5	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.489G>T	p.Met163Ile	p.M163I	ENST00000307301	4/11	190	162	28	135	134	1	strelka-varscan-mutect	MRPL39,missense_variant,p.Met163Ile,ENST00000307301,NM_080794.3;MRPL39,missense_variant,p.Met163Ile,ENST00000352957,NM_017446.3;MRPL39,missense_variant,p.Met163Ile,ENST00000419219,;	A	ENST00000307301	Transcript	missense_variant	531/1199	489/1062	163/353	M/I	atG/atT		1		-1	MRPL39	HGNC	HGNC:14027	protein_coding	YES	CCDS33522.1	ENSP00000305682	Q9NYK5		UPI00001AEAC0	NM_080794.3	tolerated(0.39)		4/11		Gene3D:1tkeA02,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF34,Superfamily_domains:SSF55186																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	20	25601399	25601399	C	A	1	0	0	0	0	1	0	0	0	9777	594	21	2		2	MRPL39	21	25601399	Missense_Mutation	SNP	C	C3L-00893_TP		25601399	21108584	95	7232											
SIM2	0	.	GRCh38	chr21	36747708	36747708	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcggcgaggacaccgcgccCccgagcttcccgagctgcgg	5	5	14	17	7	0	0	0	0	0	0	2	4	1	1	4	3	3	2	4	3	0	2	novel		C3L-00893_TP	C3L-00893_NB	C	C																c.1620C>A	p.=	p.P540P	ENST00000290399	11/11	31	22	9	65	65	0	strelka-varscan-mutect	SIM2,synonymous_variant,p.=,ENST00000290399,NM_005069.4,NM_009586.3;HLCS,downstream_gene_variant,,ENST00000399120,NM_001242784.1;HLCS,downstream_gene_variant,,ENST00000612277,NM_001242785.1;HLCS,downstream_gene_variant,,ENST00000336648,NM_000411.6;SIM2,downstream_gene_variant,,ENST00000431229,;SIM2,downstream_gene_variant,,ENST00000481185,;	A	ENST00000290399	Transcript	synonymous_variant	2233/4442	1620/2004	540/667	P	ccC/ccA		1		1	SIM2	HGNC	HGNC:10883	protein_coding	YES	CCDS13646.1	ENSP00000290399	Q14190		UPI000013599A	NM_005069.4,NM_009586.3			11/11		PROSITE_profiles:PS51302,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF19,Pfam_domain:PF06621																	LOW	1	SNV	1			1										PASS		rs1174942263	.												A	2	1	20	36747708	36747708	C	A	1	0	0	0	0	0	0	0	1	14587	610	22	2		2	SIM2	21	36747708	Silent	SNP	C	C3L-00893_TP	11146309	36747708	9962275	96	7233											
CBX6	0	.	GRCh38	chr22	38866532	38866532	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccggctcgcgccagcTgggggcggatgggctcacgg	4	5	17	15	5	1	0	1	0	0	0	3	1	2	1	3	6	1	3	3	6	0	0	novel		C3L-00893_TP	C3L-00893_NB	T	T																c.916A>G	p.Ser306Gly	p.S306G	ENST00000407418	5/5	185	151	34	144	144	0	strelka-varscan-mutect	CBX6,missense_variant,p.Ser306Gly,ENST00000407418,NM_014292.4;CBX6,missense_variant,p.Ser288Gly,ENST00000216083,NM_001303494.1;CBX6,downstream_gene_variant,,ENST00000469420,;	C	ENST00000407418	Transcript	missense_variant	1040/6122	916/1239	306/412	S/G	Agc/Ggc		1		-1	CBX6	HGNC	HGNC:1556	protein_coding	YES	CCDS13980.1	ENSP00000384490	O95503		UPI00001271FD	NM_014292.4	tolerated_low_confidence(0.14)		5/5		hmmpanther:PTHR22812,hmmpanther:PTHR22812:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	20	38866532	38866532	T	C	1	0	0	0	0	1	0	0	0	2422	1580	55	5		5	CBX6	22	38866532	Missense_Mutation	SNP	T	C3L-00893_TP		38866532	11951936	97	7234											
GK	0	.	GRCh38	chrX	30720734	30720734	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagcagacattctgtatatAccagtaggttagtaagtctt	13	13	8	7	0	2	1	0	0	2	1	2	1	2	1	1	1	2	5	1	1	7	8	novel		C3L-00893_TP	C3L-00893_NB	A	A																c.1350A>G	p.Ile450Met	p.I450M	ENST00000427190	17/21	248	109	139	175	175	0	strelka-varscan-mutect	GK,missense_variant,p.Ile450Met,ENST00000427190,NM_001205019.1;GK,missense_variant,p.Ile444Met,ENST00000378943,NM_001128127.2;GK,missense_variant,p.Ile450Met,ENST00000378946,NM_203391.3;GK,missense_variant,p.Ile444Met,ENST00000378945,NM_000167.5;GK,missense_variant,p.Ile39Met,ENST00000378938,;GK-AS1,intron_variant,,ENST00000464659,;RP11-242C19.2,intron_variant,,ENST00000497961,;GK,3_prime_UTR_variant,,ENST00000481024,;	G	ENST00000427190	Transcript	missense_variant	1529/4573	1350/1680	450/559	I/M	atA/atG		1		1	GK	HGNC	HGNC:4289	protein_coding	YES	CCDS75963.1	ENSP00000401720	P32189		UPI000002AA8A	NM_001205019.1	deleterious(0.04)		17/21		hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF63,Pfam_domain:PF02782,TIGRFAM_domain:TIGR01311,PIRSF_domain:PIRSF000538,Gene3D:3.30.420.40,Superfamily_domains:SSF53067																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	20	30720734	30720734	A	G	1	0	0	0	0	1	0	0	0	6298	381	14	5		5	GK	23	30720734	Missense_Mutation	SNP	A	C3L-00893_TP		30720734	125320161	98	7235											
MED12	0	.	GRCh38	chrX	71129375	71129375	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctggctgcctcccagAaccgcatcgtggatggagcc	7	7	12	15	2	0	1	0	0	0	1	2	3	1	3	5	3	4	3	5	3	1	0	novel		C3L-00893_TP	C3L-00893_NB	A	A																c.3637A>T	p.Asn1213Tyr	p.N1213Y	ENST00000374080	26/45	314	140	174	200	200	0	strelka-varscan-mutect	MED12,missense_variant,p.Asn1060Tyr,ENST00000333646,;MED12,missense_variant,p.Asn1213Tyr,ENST00000374102,;MED12,missense_variant,p.Asn1213Tyr,ENST00000374080,NM_005120.2;MED12,non_coding_transcript_exon_variant,,ENST00000460771,;MED12,downstream_gene_variant,,ENST00000462984,;MED12,downstream_gene_variant,,ENST00000471663,;MED12,downstream_gene_variant,,ENST00000489199,;	T	ENST00000374080	Transcript	missense_variant	3669/6795	3637/6534	1213/2177	N/Y	Aac/Tac		1		1	MED12	HGNC	HGNC:11957	protein_coding	YES	CCDS43970.1	ENSP00000363193	Q93074		UPI00004257E2	NM_005120.2	deleterious(0)		26/45		hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	20	71129375	71129375	A	T	1	0	0	0	0	1	0	0	0	9367	246	9	4		4	MED12	23	71129375	Missense_Mutation	SNP	A	C3L-00893_TP	40408641	71129375	84911520	99	7236											
CEP104	0	.	GRCh38	chr1	3833893	3833897	+	Frame_Shift_Del	DEL	CGGGC	CGGGC	-																															ttgcagctgtgacgcggaggCgggcagaagaatctccagtt																								novel		C3L-00913_TP	C3L-00913_NB	CGGGC	CGGGC																c.1624_1628delGCCCG	p.Ala542ProfsTer16	p.A542Pfs*16	ENST00000378230	12/22	294	270	24	205	205	0	sindel-varindel-pindel	CEP104,frameshift_variant,p.Ala542ProfsTer16,ENST00000378230,NM_014704.3;CEP104,upstream_gene_variant,,ENST00000461667,;CEP104,upstream_gene_variant,,ENST00000438539,;CEP104,downstream_gene_variant,,ENST00000443466,;CEP104,non_coding_transcript_exon_variant,,ENST00000460038,;CEP104,non_coding_transcript_exon_variant,,ENST00000494653,;CEP104,upstream_gene_variant,,ENST00000495701,;	-	ENST00000378230	Transcript	frameshift_variant	1949-1953/6424	1624-1628/2778	542-543/925	AR/X	GCCCGc/c		1		-1	CEP104	HGNC	HGNC:24866	protein_coding	YES	CCDS30571.1	ENSP00000367476	O60308		UPI0000139AA8	NM_014704.3			12/22		hmmpanther:PTHR13371:SF0,hmmpanther:PTHR13371,Gene3D:1.25.10.10,SMART_domains:SM01349,Superfamily_domains:SSF48371																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	21	3833893	3833893	CGGGC	-	1	0	1	0	1	0	0	0	0	2954	768	27	0		0	CEP104	1	3833893	Frame_Shift_Del	DEL	CGGGC	C3L-00913_TP		3833893	245122529	1	7237											
MFN2	0	.	GRCh38	chr1	11996195	11996195	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgtgatcaatgccatgctCtgggacaaagttctgccctc	9	10	9	13	1	3	1	1	1	2	0	4	2	3	2	3	1	3	2	3	1	2	1	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.351C>G	p.=	p.L117L	ENST00000235329	5/19	587	552	35	371	371	0	strelka-varscan-mutect	MFN2,synonymous_variant,p.=,ENST00000235329,NM_014874.3;MFN2,synonymous_variant,p.=,ENST00000444836,NM_001127660.1;MFN2,downstream_gene_variant,,ENST00000412236,;MFN2,downstream_gene_variant,,ENST00000497302,;	G	ENST00000235329	Transcript	synonymous_variant	673/4539	351/2274	117/757	L	ctC/ctG		1		1	MFN2	HGNC	HGNC:16877	protein_coding	YES	CCDS30587.1	ENSP00000235329	O95140		UPI0000039854	NM_014874.3			5/19		Gene3D:3.40.50.300,Pfam_domain:PF00350,PROSITE_profiles:PS51718,hmmpanther:PTHR10465,hmmpanther:PTHR10465:SF1,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs1468573342	.												G	2	3	21	11996195	11996195	C	G	1	0	0	0	0	0	0	0	1	9476	900	32	4		4	MFN2	1	11996195	Silent	SNP	C	C3L-00913_TP	8162302	11996195	236960227	2	7238											
VWA5B1	0	.	GRCh38	chr1	20345495	20345495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgagcgccttgcacaccaGcaaggcctgcaacatcatta	12	7	9	13	1	1	1	1	1	0	0	1	1	1	1	3	1	5	3	3	1	3	2	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.2666G>A	p.Ser889Asn	p.S889N	ENST00000375079	17/22	366	330	36	242	242	0	strelka-varscan-mutect	VWA5B1,missense_variant,p.Ser889Asn,ENST00000289815,NM_001039500.2;VWA5B1,missense_variant,p.Ser889Asn,ENST00000375079,;VWA5B1,non_coding_transcript_exon_variant,,ENST00000525343,;VWA5B1,missense_variant,p.Ser316Asn,ENST00000467486,;VWA5B1,3_prime_UTR_variant,,ENST00000485375,;	A	ENST00000375079	Transcript	missense_variant	2862/3859	2666/3663	889/1220	S/N	aGc/aAc		1		1	VWA5B1	HGNC	HGNC:26538	protein_coding	YES		ENSP00000364220	Q5TIE3		UPI000066D8B8		deleterious(0)		17/22		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF109																	MODERATE	1	SNV	5			1										PASS		rs1483336742	.												A	3	1	21	20345495	20345495	G	A	1	0	0	0	0	1	0	0	0	17797	971	34	3		3	VWA5B1	1	20345495	Missense_Mutation	SNP	G	C3L-00913_TP	8349300	20345495	228610927	3	7239											
ADGRB2	0	.	GRCh38	chr1	31744667	31744667	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgtctgcgccatgtatagCccaggctcatctgcagacct	7	10	9	15	1	3	1	1	0	2	1	3	1	3	1	4	1	3	3	4	1	2	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.903G>C	p.=	p.G301G	ENST00000373655	5/33	323	288	35	242	242	0	strelka-varscan-mutect	ADGRB2,synonymous_variant,p.=,ENST00000373658,;ADGRB2,synonymous_variant,p.=,ENST00000373655,NM_001294335.1;ADGRB2,synonymous_variant,p.=,ENST00000398542,;ADGRB2,synonymous_variant,p.=,ENST00000527361,NM_001294336.1;ADGRB2,synonymous_variant,p.=,ENST00000398556,;ADGRB2,synonymous_variant,p.=,ENST00000398547,;ADGRB2,synonymous_variant,p.=,ENST00000398538,;ADGRB2,synonymous_variant,p.=,ENST00000420125,;ADGRB2,synonymous_variant,p.=,ENST00000533175,;ADGRB2,non_coding_transcript_exon_variant,,ENST00000530134,;ADGRB2,upstream_gene_variant,,ENST00000468430,;	G	ENST00000373655	Transcript	synonymous_variant	1245/5400	903/4755	301/1584	G	ggG/ggC		1		-1	ADGRB2	HGNC	HGNC:944	protein_coding	YES	CCDS72747.1	ENSP00000362759	O60241		UPI000046FEC7	NM_001294335.1			5/33																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	21	31744667	31744667	C	G	1	0	0	0	0	0	0	0	1	356	726	26	4		4	ADGRB2	1	31744667	Silent	SNP	C	C3L-00913_TP	11399172	31744667	217211755	4	7240											
AZIN2	0	.	GRCh38	chr1	33094677	33094677	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggaccttggtggtggcttCcctggcacagaaggggccaa	7	8	15	11	0	0	1	0	0	0	1	1	2	1	2	3	7	0	2	3	7	2	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.717C>T	p.=	p.F239F	ENST00000373441	5/9	205	186	19	113	112	1	strelka-varscan-mutect	AZIN2,synonymous_variant,p.=,ENST00000294517,NM_052998.3;AZIN2,synonymous_variant,p.=,ENST00000373443,NM_001293562.1,NM_001301823.1;AZIN2,synonymous_variant,p.=,ENST00000373441,NM_001301825.1;AZIN2,intron_variant,,ENST00000373440,;AZIN2,non_coding_transcript_exon_variant,,ENST00000484656,;AZIN2,non_coding_transcript_exon_variant,,ENST00000475935,;AZIN2,non_coding_transcript_exon_variant,,ENST00000478204,;AZIN2,non_coding_transcript_exon_variant,,ENST00000481886,;AZIN2,non_coding_transcript_exon_variant,,ENST00000471119,;AZIN2,non_coding_transcript_exon_variant,,ENST00000477570,;AZIN2,non_coding_transcript_exon_variant,,ENST00000483027,;AZIN2,non_coding_transcript_exon_variant,,ENST00000473089,;AZIN2,non_coding_transcript_exon_variant,,ENST00000497280,;AZIN2,non_coding_transcript_exon_variant,,ENST00000492521,;AZIN2,downstream_gene_variant,,ENST00000492420,;AZIN2,downstream_gene_variant,,ENST00000462920,;AZIN2,downstream_gene_variant,,ENST00000497710,;AZIN2,downstream_gene_variant,,ENST00000478635,;	T	ENST00000373441	Transcript	synonymous_variant	717/1443	717/1443	239/480	F	ttC/ttT		1		1	AZIN2	HGNC	HGNC:29957	protein_coding	YES	CCDS76138.1	ENSP00000362540	Q96A70		UPI000002A7C5	NM_001301825.1			5/9		Gene3D:3.20.20.10,Pfam_domain:PF02784,PROSITE_patterns:PS00879,hmmpanther:PTHR11482,hmmpanther:PTHR11482:SF4,Superfamily_domains:SSF51419																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	21	33094677	33094677	C	T	1	0	0	0	0	0	0	0	1	1399	854	30	3		3	AZIN2	1	33094677	Silent	SNP	C	C3L-00913_TP	1350010	33094677	215861745	5	7241											
STIL	0	.	GRCh38	chr1	47299919	47299919	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acttacccatatttataagtCccttgaacttgagaaatatt	14	15	4	8	0	0	2	0	2	0	1	1	3	1	2	2	0	2	0	2	0	7	9	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.687G>C	p.=	p.G229G	ENST00000371877	6/17	287	263	24	205	205	0	strelka-mutect	STIL,synonymous_variant,p.=,ENST00000360380,NM_001282936.1,NM_003035.2;STIL,synonymous_variant,p.=,ENST00000337817,NM_001282939.1,NM_001282938.1;STIL,synonymous_variant,p.=,ENST00000371877,NM_001048166.1;STIL,synonymous_variant,p.=,ENST00000396221,NM_001282937.1;STIL,synonymous_variant,p.=,ENST00000447475,;STIL,downstream_gene_variant,,ENST00000413565,;STIL,non_coding_transcript_exon_variant,,ENST00000433827,;	G	ENST00000371877	Transcript	synonymous_variant	835/5009	687/3867	229/1288	G	ggG/ggC		1		-1	STIL	HGNC	HGNC:10879	protein_coding	YES	CCDS41329.1	ENSP00000360944	Q15468		UPI00002042D5	NM_001048166.1			6/17		Pfam_domain:PF15253,hmmpanther:PTHR15128,hmmpanther:PTHR15128:SF0																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	21	47299919	47299919	C	G	1	0	0	0	0	0	0	0	1	15659	842	30	4		4	STIL	1	47299919	Silent	SNP	C	C3L-00913_TP	14205242	47299919	201656503	6	7242											
WDR78	0	.	GRCh38	chr1	66837657	66837657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgtaattatatattttatGagaattttgtcaacagccag	14	16	6	5	0	1	1	1	1	0	1	1	2	1	1	1	0	2	1	1	0	7	8			C3L-00913_TP	C3L-00913_NB	G	G																c.1634C>T	p.Ser545Leu	p.S545L	ENST00000371023	10/10	208	183	25	126	126	0	strelka-varscan-mutect	WDR78,missense_variant,p.Ser545Leu,ENST00000371023,NM_207014.2;WDR78,missense_variant,p.Ser167Leu,ENST00000531552,;WDR78,intron_variant,,ENST00000371026,NM_024763.4;WDR78,intron_variant,,ENST00000464352,;WDR78,intron_variant,,ENST00000491297,;	A	ENST00000371023	Transcript	missense_variant	1643/1697	1634/1638	545/545	S/L	tCa/tTa	COSM5381450	1		-1	WDR78	HGNC	HGNC:26252	protein_coding		CCDS44157.1	ENSP00000360062	Q5VTH9		UPI0000366548	NM_207014.2			10/10													1						MODERATE		SNV	1		1	1										PASS		.	.												A	3	1	21	66837657	66837657	G	A	1	0	0	0	0	1	0	0	0	17884	1294	45	3		3	WDR78	1	66837657	Missense_Mutation	SNP	G	C3L-00913_TP	19537738	66837657	182118765	7	7243											
LRRC7	0	.	GRCh38	chr1	69760200	69760200	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttctctagtgcagtgccTggagatgaccaccaaacgga	10	9	11	11	2	1	2	0	1	1	1	2	4	1	3	3	2	3	2	3	2	2	2	rs746453993		C3L-00913_TP	C3L-00913_NB	T	T																c.11T>A	p.Leu4Gln	p.L4Q	ENST00000310961	4/27	219	192	27	161	160	1	strelka-varscan-mutect	LRRC7,missense_variant,p.Leu4Gln,ENST00000310961,;LRRC7,missense_variant,p.Leu37Gln,ENST00000370958,;LRRC7,5_prime_UTR_variant,,ENST00000035383,NM_020794.2;LRRC7,5_prime_UTR_variant,,ENST00000415775,;	A	ENST00000310961	Transcript	missense_variant	429/6507	11/4488	4/1495	L/Q	cTg/cAg	rs746453993	1		1	LRRC7	HGNC	HGNC:18531	protein_coding			ENSP00000309245		A0A075B6E9	UPI00004588A5		deleterious_low_confidence(0)		4/27																			MODERATE		SNV	5			1										PASS		rs746453993	.												A	3	1	21	69760200	69760200	T	A	1	0	0	0	0	1	0	0	0	8916	1580	55	4		4	LRRC7	1	69760200	Missense_Mutation	SNP	T	C3L-00913_TP	2922543	69760200	179196222	8	7244											
GBP7	0	.	GRCh38	chr1	89150351	89150351	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttccagtgacaaggattcCctctctcagggtcttggtct	6	14	10	11	0	4	1	1	1	3	0	7	2	6	2	2	3	0	1	2	3	1	3	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.850G>C	p.Gly284Arg	p.G284R	ENST00000294671	6/11	184	155	29	132	132	0	strelka-varscan-mutect	GBP7,missense_variant,p.Gly284Arg,ENST00000294671,NM_207398.2;GBP2,5_prime_UTR_variant,,ENST00000464839,;	G	ENST00000294671	Transcript	missense_variant	989/2454	850/1917	284/638	G/R	Gga/Cga		1		-1	GBP7	HGNC	HGNC:29606	protein_coding	YES	CCDS720.1	ENSP00000294671	Q8N8V2		UPI000013E1A3	NM_207398.2	deleterious(0.01)		6/11		hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF17,Gene3D:1f5nA01,Pfam_domain:PF02841,Superfamily_domains:0037397																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	21	89150351	89150351	C	G	1	0	0	0	0	1	0	0	0	6149	632	22	4		4	GBP7	1	89150351	Missense_Mutation	SNP	C	C3L-00913_TP	19390151	89150351	159806071	9	7245											
EPHX4	0	.	GRCh38	chr1	92063105	92063105	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactccaacactactactgtGgggagagaatgacgcattca	13	8	9	11	1	1	2	1	1	0	1	2	4	2	3	1	2	3	1	1	2	4	3	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.908G>A	p.Trp303Ter	p.W303*	ENST00000370383	7/7	244	217	27	155	155	0	strelka-varscan-mutect	EPHX4,stop_gained,p.Trp303Ter,ENST00000370383,NM_173567.4;LPCAT2BP,upstream_gene_variant,,ENST00000420263,;	A	ENST00000370383	Transcript	stop_gained	1006/1437	908/1089	303/362	W/*	tGg/tAg		1		1	EPHX4	HGNC	HGNC:23758	protein_coding	YES	CCDS736.1	ENSP00000359410	Q8IUS5		UPI000013E9F5	NM_173567.4			7/7		Gene3D:3.40.50.1820,Prints_domain:PR00412,hmmpanther:PTHR10992,hmmpanther:PTHR10992:SF278,Superfamily_domains:SSF53474																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	21	92063105	92063105	G	A	1	0	0	0	0	0	1	0	0	5029	1357	47	3		3	EPHX4	1	92063105	Nonsense_Mutation	SNP	G	C3L-00913_TP	2912754	92063105	156893317	10	7246											
NBPF4	0	.	GRCh38	chr1	108223743	108223743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtccttccagcagtatttgGtatctgtaggggagagagag	9	11	14	7	1	1	2	0	0	1	2	3	4	3	2	2	3	1	4	2	3	3	5	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1879C>T	p.Pro627Ser	p.P627S	ENST00000415641	15/15	189	171	18	140	139	1	varscan-mutect	NBPF4,missense_variant,p.Pro627Ser,ENST00000415641,NM_001143989.2;NBPF4,missense_variant,p.Pro656Ser,ENST00000613157,;	A	ENST00000415641	Transcript	missense_variant	2083/2485	1879/1917	627/638	P/S	Cca/Tca		1		-1	NBPF4	HGNC	HGNC:26550	protein_coding	YES	CCDS44182.1	ENSP00000389237	Q96M43		UPI000046FF97	NM_001143989.2	deleterious_low_confidence(0)		15/15																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	21	108223743	108223743	G	A	1	0	0	0	0	1	0	0	0	10213	1275	44	3		3	NBPF4	1	108223743	Missense_Mutation	SNP	G	C3L-00913_TP	16160638	108223743	140732679	11	7247											
SLC6A17	0	.	GRCh38	chr1	110198246	110198246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagggccgcatgatgaaGgacatctccaacctggagga	14	5	13	9	1	1	3	0	2	1	1	2	6	1	6	3	4	1	1	3	4	4	0	rs550485152		C3L-00913_TP	C3L-00913_NB	G	G																c.1986G>T	p.Lys662Asn	p.K662N	ENST00000331565	12/12	322	281	41	198	197	1	strelka-varscan-mutect	SLC6A17,missense_variant,p.Lys662Asn,ENST00000331565,NM_001010898.2;SLC6A17,downstream_gene_variant,,ENST00000465159,;	T	ENST00000331565	Transcript	missense_variant	2471/6427	1986/2184	662/727	K/N	aaG/aaT	rs550485152	1		1	SLC6A17	HGNC	HGNC:31399	protein_coding	YES	CCDS30799.1	ENSP00000330199	Q9H1V8		UPI0000470B3D	NM_001010898.2	tolerated(0.05)		12/12		hmmpanther:PTHR11616:SF102,hmmpanther:PTHR11616																	MODERATE	1	SNV	2			1										PASS		rs550485152	.												T	3	4	21	110198246	110198246	G	T	1	0	0	0	0	1	0	0	0	14963	991	35	2		2	SLC6A17	1	110198246	Missense_Mutation	SNP	G	C3L-00913_TP	1974503	110198246	138758176	12	7248											
KCND3	0	.	GRCh38	chr1	111982709	111982709	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaaaaggcagccaggcCgcaactccggccgccatggt	9	3	14	15	4	0	0	0	0	0	0	1	0	1	0	5	5	2	3	5	5	3	0	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.18G>C	p.=	p.A6A	ENST00000315987	2/8	253	227	26	164	164	0	strelka-varscan-mutect	KCND3,synonymous_variant,p.=,ENST00000369697,;KCND3,synonymous_variant,p.=,ENST00000315987,NM_004980.4;KCND3,synonymous_variant,p.=,ENST00000302127,NM_172198.2;	G	ENST00000315987	Transcript	synonymous_variant	498/2716	18/1968	6/655	A	gcG/gcC		1		-1	KCND3	HGNC	HGNC:6239	protein_coding	YES	CCDS843.1	ENSP00000319591	Q9UK17		UPI000003050A	NM_004980.4			2/8		Pfam_domain:PF11601,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		rs1222104971	.												G	2	3	21	111982709	111982709	C	G	1	0	0	0	0	0	0	0	1	7936	639	23	4		4	KCND3	1	111982709	Silent	SNP	C	C3L-00913_TP	1784463	111982709	136973713	13	7249											
BCAS2	0	.	GRCh38	chr1	114576721	114576721	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaattcaattggttgtcgaGcagccagtctttcaaattca	11	13	8	9	1	4	0	3	0	1	0	5	1	4	0	1	1	2	3	1	1	3	5	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.224C>G	p.Ala75Gly	p.A75G	ENST00000369541	3/7	241	222	19	174	174	0	strelka-varscan-mutect	BCAS2,missense_variant,p.Ala75Gly,ENST00000369541,NM_005872.2;BCAS2,intron_variant,,ENST00000485021,;	C	ENST00000369541	Transcript	missense_variant	272/1299	224/678	75/225	A/G	gCt/gGt		1		-1	BCAS2	HGNC	HGNC:975	protein_coding	YES	CCDS874.1	ENSP00000358554	O75934	B2R7W3	UPI0000029BC3	NM_005872.2	tolerated(0.29)		3/7		Pfam_domain:PF05700,hmmpanther:PTHR13296,hmmpanther:PTHR13296:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	21	114576721	114576721	G	C	1	0	0	0	0	1	0	0	0	1498	971	34	4		4	BCAS2	1	114576721	Missense_Mutation	SNP	G	C3L-00913_TP	2594012	114576721	134379701	14	7250											
VANGL1	0	.	GRCh38	chr1	115664002	115664002	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagctgacatgccacgggtGtttgtgtttcgtgccctttt	5	15	12	9	2	0	2	0	1	0	1	1	2	0	2	2	1	3	3	2	1	0	4	rs143094973		C3L-00913_TP	C3L-00913_NB	G	G																c.546G>T	p.=	p.V182V	ENST00000355485	4/8	755	680	75	591	591	0	strelka-varscan-mutect	VANGL1,synonymous_variant,p.=,ENST00000355485,NM_138959.2;VANGL1,synonymous_variant,p.=,ENST00000369510,NM_001172411.1;VANGL1,synonymous_variant,p.=,ENST00000310260,NM_001172412.1;VANGL1,synonymous_variant,p.=,ENST00000369509,;	T	ENST00000355485	Transcript	synonymous_variant	817/8691	546/1575	182/524	V	gtG/gtT	rs143094973	1		1	VANGL1	HGNC	HGNC:15512	protein_coding	YES	CCDS883.1	ENSP00000347672	Q8TAA9	A0A024R0E3	UPI0000070B72	NM_138959.2			4/8		Pfam_domain:PF06638,PIRSF_domain:PIRSF007991,hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF8,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs143094973	.												T	2	4	21	115664002	115664002	G	T	1	0	0	0	0	0	0	0	1	17664	1364	48	2		2	VANGL1	1	115664002	Silent	SNP	G	C3L-00913_TP	1087281	115664002	133292420	15	7251											
NBPF12	0	.	GRCh38	chr1	146978957	146978957	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctctgaatttatttacAgaaaatgaaagtgatgatga	15	14	8	4	0	1	6	0	5	1	1	2	6	1	6	0	0	1	1	0	0	6	5	novel		C3L-00913_TP	C3L-00913_NB	A	A																c.2399-2A>T		p.X800_splice	ENST00000617931		70	60	10	66	66	0	varscan-mutect	NBPF12,splice_acceptor_variant,,ENST00000617931,;NBPF12,splice_acceptor_variant,,ENST00000617844,NM_001278141.1;NBPF12,splice_acceptor_variant,,ENST00000611443,;NBPF12,splice_acceptor_variant,,ENST00000579935,;NBPF12,splice_acceptor_variant,,ENST00000617614,;NBPF12,splice_acceptor_variant,,ENST00000613714,;NBPF12,splice_acceptor_variant,,ENST00000617864,;NBPF12,splice_acceptor_variant,,ENST00000439206,;	T	ENST00000617931	Transcript	splice_acceptor_variant	-/7061	2399/4374	800/1457				1		1	NBPF12	HGNC	HGNC:24297	protein_coding	YES	CCDS72881.1	ENSP00000478609		A0A087WUF1	UPI00032968BC					20/35																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	21	146978957	146978957	A	T	1	0	0	0	0	0	0	1	0	10206	202	7	4		4	NBPF12	1	146978957	Splice_Site	SNP	A	C3L-00913_TP	31314955	146978957	101977465	16	7252											
MR1	0	.	GRCh38	chr1	181049296	181049296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaactgaagcgcctacagagGcactacaatcactcaggtgt	13	7	10	11	1	2	2	2	1	0	1	2	3	2	2	1	2	4	1	1	2	5	2	rs550176170		C3L-00913_TP	C3L-00913_NB	G	G																c.312G>T	p.Arg104Ser	p.R104S	ENST00000614012	3/7	187	174	13	148	148	0	strelka-varscan-mutect	MR1,missense_variant,p.Arg104Ser,ENST00000614012,NM_001531.2;MR1,missense_variant,p.Arg104Ser,ENST00000367580,;MR1,missense_variant,p.Arg104Ser,ENST00000617803,NM_001310213.1,NM_001195000.1;MR1,missense_variant,p.Arg104Ser,ENST00000434571,NM_001195035.1;MR1,missense_variant,p.Arg104Ser,ENST00000282990,;MR1,missense_variant,p.Arg104Ser,ENST00000367579,NM_001194999.1;MR1,non_coding_transcript_exon_variant,,ENST00000438435,;MR1,non_coding_transcript_exon_variant,,ENST00000367578,;MR1,non_coding_transcript_exon_variant,,ENST00000486453,;	T	ENST00000614012	Transcript	missense_variant	473/7860	312/1026	104/341	R/S	agG/agT	rs550176170	1		1	MR1	HGNC	HGNC:4975	protein_coding	YES	CCDS1342.1	ENSP00000477563	Q95460		UPI0000072BD9	NM_001531.2	tolerated(0.5)		3/7		hmmpanther:PTHR16675:SF141,hmmpanther:PTHR16675,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452,Prints_domain:PR01638																	MODERATE	1	SNV	5			1										PASS		rs550176170	.												T	3	4	21	181049296	181049296	G	T	1	0	0	0	0	1	0	0	0	9718	1194	42	2		2	MR1	1	181049296	Missense_Mutation	SNP	G	C3L-00913_TP	34070339	181049296	67907126	17	7253											
PTPRC	0	.	GRCh38	chr1	198699687	198699687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaactcaaccctaccccagGcagcaatgctatctcaggtt	13	8	6	14	0	2	0	2	0	1	0	3	0	2	0	3	2	5	4	3	2	6	3	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.422G>T	p.Gly141Val	p.G141V	ENST00000442510	5/33	632	552	80	428	427	1	strelka-varscan-mutect	PTPRC,missense_variant,p.Gly141Val,ENST00000442510,NM_002838.4;PTPRC,missense_variant,p.Gly75Val,ENST00000367367,;PTPRC,missense_variant,p.Gly75Val,ENST00000530727,;PTPRC,intron_variant,,ENST00000348564,NM_080921.3;PTPRC,intron_variant,,ENST00000367379,;PTPRC,downstream_gene_variant,,ENST00000413409,NM_001267798.1;PTPRC,downstream_gene_variant,,ENST00000418674,;PTPRC,non_coding_transcript_exon_variant,,ENST00000391970,;PTPRC,non_coding_transcript_exon_variant,,ENST00000427110,;PTPRC,missense_variant,p.Gly141Val,ENST00000529828,;PTPRC,non_coding_transcript_exon_variant,,ENST00000462363,;PTPRC,non_coding_transcript_exon_variant,,ENST00000484135,;	T	ENST00000442510	Transcript	missense_variant	563/5164	422/3921	141/1306	G/V	gGc/gTc		1		1	PTPRC	HGNC	HGNC:9666	protein_coding	YES	CCDS1397.2	ENSP00000411355		A0A0A0MT22	UPI000046FDB4	NM_002838.4	tolerated(0.38)		5/33		PIRSF_domain:PIRSF002004																	MODERATE	1	SNV	1			1										PASS		rs1170608605	.												T	3	4	21	198699687	198699687	G	T	1	0	0	0	0	1	0	0	0	12951	1203	42	2		2	PTPRC	1	198699687	Missense_Mutation	SNP	G	C3L-00913_TP	17650391	198699687	50256735	18	7254											
RBBP5	0	.	GRCh38	chr1	205105103	205105115	+	Frame_Shift_Del	DEL	ACATCCCACTGTG	ACATCCCACTGTG	-																															ggtcacagtcgcctgaaagaAcatcccactgtgacactatg																								novel		C3L-00913_TP	C3L-00913_NB	ACATCCCACTGTG	ACATCCCACTGTG																c.272_284delCACAGTGGGATGT	p.Ser91PhefsTer17	p.S91Ffs*17	ENST00000264515	4/14	230	216	14	180	180	0	sindel-pindel	RBBP5,frameshift_variant,p.Ser91PhefsTer17,ENST00000264515,NM_001193273.1,NM_005057.3;RBBP5,frameshift_variant,p.Ser91PhefsTer17,ENST00000367164,NM_001193272.1;RBBP5,non_coding_transcript_exon_variant,,ENST00000484379,;	-	ENST00000264515	Transcript	frameshift_variant	414-426/4404	272-284/1617	91-95/538	SQWDV/X	tCACAGTGGGATGTt/tt		1		-1	RBBP5	HGNC	HGNC:9888	protein_coding	YES	CCDS30983.1	ENSP00000264515	Q15291	A0A024R9B5	UPI00001A9CA5	NM_001193273.1,NM_005057.3			4/14		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF433,SMART_domains:SM00320,Superfamily_domains:SSF117289																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	21	205105103	205105103	ACATCCCACTGTG	-	1	0	1	0	1	0	0	0	0	13263	43	2	0		0	RBBP5	1	205105103	Frame_Shift_Del	DEL	ACATCCCACTGTG	C3L-00913_TP	6405416	205105103	43851319	19	7255											
USH2A	0	.	GRCh38	chr1	216246992	216246992	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacagtcccagggagggatCcagctgtgtcacagtcacag	11	6	13	11	0	2	1	2	0	0	1	4	3	4	3	2	2	1	1	2	2	0	0	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.2402G>T	p.Gly801Val	p.G801V	ENST00000307340	13/72	242	215	27	173	172	1	strelka-varscan-mutect	USH2A,missense_variant,p.Gly801Val,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Gly801Val,ENST00000366942,NM_007123.5;	A	ENST00000307340	Transcript	missense_variant	2789/18883	2402/15609	801/5202	G/V	gGa/gTa		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		13/72		Gene3D:2.10.25.10,Pfam_domain:PF00053,Prints_domain:PR00011,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00180,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	216246992	216246992	C	A	1	0	0	0	0	1	0	0	0	17570	855	30	2		2	USH2A	1	216246992	Missense_Mutation	SNP	C	C3L-00913_TP	11141889	216246992	32709430	20	7256											
SLC30A10	0	.	GRCh38	chr1	219928351	219928351	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcgcgatggagttgcccagGtagccggagaccagctccgc	8	5	15	13	4	0	1	0	0	0	1	1	4	1	2	4	3	4	3	4	3	1	2	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.90C>A	p.Tyr30Ter	p.Y30*	ENST00000366926	1/4	347	320	27	303	303	0	strelka-varscan	SLC30A10,stop_gained,p.Tyr30Ter,ENST00000366926,NM_018713.2;SLC30A10,intron_variant,,ENST00000484239,;SLC30A10,stop_gained,p.Tyr30Ter,ENST00000356609,;	T	ENST00000366926	Transcript	stop_gained	252/1915	90/1458	30/485	Y/*	taC/taA		1		-1	SLC30A10	HGNC	HGNC:25355	protein_coding	YES	CCDS31026.1	ENSP00000355893	Q6XR72		UPI000040E993	NM_018713.2			1/4		Superfamily_domains:0054606,Gene3D:3h90A01,Pfam_domain:PF01545,hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF14,TIGRFAM_domain:TIGR01297,Transmembrane_helices:TMhelix																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	21	219928351	219928351	G	T	1	0	0	0	0	0	1	0	0	14824	1256	44	2		2	SLC30A10	1	219928351	Nonsense_Mutation	SNP	G	C3L-00913_TP	3681359	219928351	29028071	21	7257											
ACTN2	0	.	GRCh38	chr1	236762485	236762485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcctggcggaggagctgCgtcgggagctgcccccggat	6	6	16	13	4	0	0	0	0	0	0	2	4	1	4	3	5	4	2	3	5	0	0	rs141563497		C3L-00913_TP	C3L-00913_NB	C	C																c.2551C>A	p.Arg851Ser	p.R851S	ENST00000542672	21/21	458	429	29	339	338	1	strelka-varscan	ACTN2,missense_variant,p.Arg643Ser,ENST00000546208,NM_001278344.1;ACTN2,missense_variant,p.Arg851Ser,ENST00000542672,NM_001278343.1;ACTN2,missense_variant,p.Arg851Ser,ENST00000366578,NM_001103.3;ACTN2,non_coding_transcript_exon_variant,,ENST00000461367,;	A	ENST00000542672	Transcript	missense_variant	2771/4906	2551/2685	851/894	R/S	Cgt/Agt	rs141563497,COSM1639758,COSM4233962	1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1	deleterious(0)		21/21		Gene3D:1.10.238.10,Pfam_domain:PF08726,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,SMART_domains:SM01184,Superfamily_domains:SSF47473											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		.	.												A	3	1	21	236762485	236762485	C	A	1	0	0	0	0	1	0	0	0	249	768	27	1		1	ACTN2	1	236762485	Missense_Mutation	SNP	C	C3L-00913_TP	16834134	236762485	12193937	22	7258											
RYR2	0	.	GRCh38	chr1	237590732	237590732	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagcaacactgatatcatGttttatcgcctgagcatgcc	12	11	7	11	1	1	2	1	2	0	0	2	2	1	2	2	0	5	3	2	0	4	3	rs762489681		C3L-00913_TP	C3L-00913_NB	G	G																c.3900G>C	p.Met1300Ile	p.M1300I	ENST00000366574	31/105	89	75	14	78	78	0	strelka-varscan	RYR2,missense_variant,p.Met1300Ile,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Met1284Ile,ENST00000360064,;	C	ENST00000366574	Transcript	missense_variant	4217/16562	3900/14904	1300/4967	M/I	atG/atC	rs762489681	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.46)		31/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	21	237590732	237590732	G	C	1	0	0	0	0	1	0	0	0	14029	1377	48	4		4	RYR2	1	237590732	Missense_Mutation	SNP	G	C3L-00913_TP	828247	237590732	11365690	23	7259											
RYR2	0	.	GRCh38	chr1	237650036	237650036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgtatagactttctaagGgctgttcacttaccaaagct	10	14	8	9	0	2	1	1	0	1	1	2	1	2	1	1	1	2	4	1	1	5	6	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.7672G>A	p.Gly2558Ser	p.G2558S	ENST00000366574	50/105	409	386	23	292	291	1	strelka-varscan	RYR2,missense_variant,p.Gly2558Ser,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Gly2542Ser,ENST00000360064,;	A	ENST00000366574	Transcript	missense_variant	7989/16562	7672/14904	2558/4967	G/S	Ggc/Agc		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.06)		50/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	237650036	237650036	G	A	1	0	0	0	0	1	0	0	0	14029	1232	43	3		3	RYR2	1	237650036	Missense_Mutation	SNP	G	C3L-00913_TP	59304	237650036	11306386	24	7260											
ZP4	0	.	GRCh38	chr1	237885433	237885433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgactcagggggtcaGtgctgggtgttgcccaacac	6	9	16	10	0	2	1	2	1	0	0	2	1	2	1	1	4	3	3	1	4	1	1	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1118C>A	p.Thr373Asn	p.T373N	ENST00000611898	8/13	155	134	21	138	138	0	strelka-varscan	ZP4,missense_variant,p.Thr373Asn,ENST00000611898,NM_021186.3;ZP4,missense_variant,p.Thr373Asn,ENST00000366570,;RP11-193H5.1,intron_variant,,ENST00000450451,;	T	ENST00000611898	Transcript	missense_variant	1405/2474	1118/1623	373/540	T/N	aCt/aAt		1		-1	ZP4	HGNC	HGNC:15770	protein_coding	YES	CCDS1615.1	ENSP00000482304	Q12836		UPI000006F0E4	NM_021186.3	tolerated(0.19)		8/13		Pfam_domain:PF00100,Prints_domain:PR00023,PROSITE_patterns:PS00682,PROSITE_profiles:PS51034,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,SMART_domains:SM00241																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	21	237885433	237885433	G	T	1	0	0	0	0	1	0	0	0	18810	1029	36	2		2	ZP4	1	237885433	Missense_Mutation	SNP	G	C3L-00913_TP	235397	237885433	11070989	25	7261											
MAP1LC3C	0	.	GRCh38	chr1	241998954	241998954	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccccaagaaatttacccaAgcttttcctctgcttgaagg	11	12	6	12	0	1	2	0	1	1	1	2	2	2	2	4	1	4	2	4	1	6	6	novel		C3L-00913_TP	C3L-00913_NB	A	A																c.55T>A	p.Leu19Met	p.L19M	ENST00000357246	1/4	129	109	20	122	122	0	strelka-varscan	MAP1LC3C,missense_variant,p.Leu19Met,ENST00000357246,NM_001004343.2;	T	ENST00000357246	Transcript	missense_variant	120/1182	55/444	19/147	L/M	Ttg/Atg		1		-1	MAP1LC3C	HGNC	HGNC:13353	protein_coding	YES	CCDS31074.1	ENSP00000349785	Q9BXW4		UPI0000070E14	NM_001004343.2	deleterious(0.02)		1/4		Gene3D:3.10.20.90,hmmpanther:PTHR10969,hmmpanther:PTHR10969:SF41,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	241998954	241998954	A	T	1	0	0	0	0	1	0	0	0	9155	86	3	4		4	MAP1LC3C	1	241998954	Missense_Mutation	SNP	A	C3L-00913_TP	4113521	241998954	6957468	26	7262											
OR2G2	0	.	GRCh38	chr1	247589133	247589133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatcttttatggaaccatCatcttcatgtatctgcagcc	10	14	5	12	0	5	0	2	0	3	0	5	1	5	1	3	1	3	2	3	1	3	4	rs865888004		C3L-00913_TP	C3L-00913_NB	C	C																c.774C>T	p.=	p.I258I	ENST00000320065	1/1	327	310	17	247	247	0	strelka-varscan	OR2G2,synonymous_variant,p.=,ENST00000320065,NM_001001915.1;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;	T	ENST00000320065	Transcript	synonymous_variant	774/954	774/954	258/317	I	atC/atT	rs865888004,COSM5249562	1		1	OR2G2	HGNC	HGNC:15007	protein_coding	YES	CCDS31092.1	ENSP00000326349	Q8NGZ5		UPI0000061EB9	NM_001001915.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF132,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						LOW		SNV			0,1	1										PASS		.	.												T	2	4	21	247589133	247589133	C	T	1	0	0	0	0	0	0	0	1	11076	816	29	3		3	OR2G2	1	247589133	Silent	SNP	C	C3L-00913_TP	5590179	247589133	1367289	27	7263											
OR1C1	0	.	GRCh38	chr1	247757596	247757596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	catgatggttgacagagtgtCgctctcaggcatatgggggg	8	10	16	7	1	1	3	1	2	1	1	3	3	1	3	0	5	0	3	0	5	1	2	rs774677753		C3L-00913_TP	C3L-00913_NB	C	C																c.811G>C	p.Asp271His	p.D271H	ENST00000408896	1/1	309	293	16	229	229	0	strelka-varscan	OR1C1,missense_variant,p.Asp271His,ENST00000408896,NM_012353.2;	G	ENST00000408896	Transcript	missense_variant	811/945	811/945	271/314	D/H	Gac/Cac	rs774677753,COSM4559607	1		-1	OR1C1	HGNC	HGNC:8182	protein_coding	YES	CCDS41481.1	ENSP00000386138	Q15619	A0A126GV94	UPI000004B1DC	NM_012353.2	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF388,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		.	.												G	3	3	21	247757596	247757596	C	G	1	0	0	0	0	1	0	0	0	11029	884	31	4		4	OR1C1	1	247757596	Missense_Mutation	SNP	C	C3L-00913_TP	168463	247757596	1198826	28	7264											
OR2AJ1	0	.	GRCh38	chr1	247934272	247934272	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcactgcagtttcccttCtgtggctctagggcaattga	7	14	10	10	0	2	1	0	1	2	0	3	1	3	1	1	2	2	5	1	2	3	5	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.504C>A	p.Phe168Leu	p.F168L	ENST00000318244	1/1	213	185	28	172	172	0	strelka-varscan	OR2AJ1,missense_variant,p.Phe168Leu,ENST00000318244,;CLK3P2,downstream_gene_variant,,ENST00000427566,;OR2X1P,upstream_gene_variant,,ENST00000421144,;	A	ENST00000318244	Transcript	missense_variant	504/987	504/987	168/328	F/L	ttC/ttA		1		1	OR2AJ1	HGNC	HGNC:15001	protein_coding	YES		ENSP00000325078	Q8NGZ0		UPI0000061E5C		deleterious(0.04)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF214,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	21	247934272	247934272	C	A	1	0	0	0	0	1	0	0	0	11063	912	32	2		2	OR2AJ1	1	247934272	Missense_Mutation	SNP	C	C3L-00913_TP	176676	247934272	1022150	29	7265											
RHOB	0	.	GRCh38	chr2	20447667	20447667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccaggaggactacgacCgcctgcggccgctctcctac	6	5	13	17	5	1	0	0	0	1	0	2	3	1	2	5	4	3	1	5	4	2	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.202C>T	p.Arg68Cys	p.R68C	ENST00000272233	1/1	203	185	18	158	158	0	strelka-varscan-mutect	RHOB,missense_variant,p.Arg68Cys,ENST00000272233,NM_004040.3;AC023137.2,upstream_gene_variant,,ENST00000448241,;	T	ENST00000272233	Transcript	missense_variant	594/2372	202/591	68/196	R/C	Cgc/Tgc		1		1	RHOB	HGNC	HGNC:668	protein_coding	YES	CCDS1699.1	ENSP00000272233	P62745		UPI0000021989	NM_004040.3	deleterious(0)		1/1		PROSITE_profiles:PS51420,hmmpanther:PTHR24072:SF100,hmmpanther:PTHR24072,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449																	MODERATE		SNV				1										PASS		.	.												T	3	4	21	20447667	20447667	C	T	1	0	0	0	0	1	0	0	0	13505	652	23	1		1	RHOB	2	20447667	Missense_Mutation	SNP	C	C3L-00913_TP		20447667	221745862	30	7266											
GDF7	0	.	GRCh38	chr2	20671356	20671356	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cccatcagcatcctctacatCgacgccgccaacaacgttgt	10	8	6	17	4	2	0	1	0	1	0	4	1	3	0	4	0	4	2	4	0	3	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1284C>G	p.Ile428Met	p.I428M	ENST00000272224	2/2	341	322	19	231	231	0	strelka-varscan-mutect	GDF7,missense_variant,p.Ile428Met,ENST00000272224,NM_182828.2;	G	ENST00000272224	Transcript	missense_variant	1860/9749	1284/1353	428/450	I/M	atC/atG		1		1	GDF7	HGNC	HGNC:4222	protein_coding	YES	CCDS1701.1	ENSP00000272224	Q7Z4P5		UPI0000208B29	NM_182828.2	deleterious(0)		2/2		PROSITE_profiles:PS51362,hmmpanther:PTHR11848:SF160,hmmpanther:PTHR11848,Gene3D:2.10.90.10,Pfam_domain:PF00019,SMART_domains:SM00204,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	21	20671356	20671356	C	G	1	0	0	0	0	1	0	0	0	6191	874	31	4		4	GDF7	2	20671356	Missense_Mutation	SNP	C	C3L-00913_TP	223689	20671356	221522173	31	7267											
SLC8A1	0	.	GRCh38	chr2	40115456	40115456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtgacagagaaagctaGtgtgccaggggacactttga	13	7	15	6	0	0	4	0	2	0	2	0	7	0	5	1	2	2	1	1	2	2	2	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.2719C>G	p.Leu907Val	p.L907V	ENST00000403092	11/11	292	264	28	221	221	0	strelka-varscan	SLC8A1,missense_variant,p.Leu871Val,ENST00000406785,;SLC8A1,missense_variant,p.Leu907Val,ENST00000403092,;SLC8A1,missense_variant,p.Leu902Val,ENST00000405901,NM_001112800.1;SLC8A1,missense_variant,p.Leu871Val,ENST00000402441,NM_001112802.1;SLC8A1,missense_variant,p.Leu871Val,ENST00000405269,;SLC8A1,missense_variant,p.Leu907Val,ENST00000332839,NM_021097.2;SLC8A1,missense_variant,p.Leu899Val,ENST00000408028,NM_001112801.1,NM_001252624.1;SLC8A1,missense_variant,p.Leu871Val,ENST00000406391,;SLC8A1-AS1,intron_variant,,ENST00000610721,;SLC8A1-AS1,intron_variant,,ENST00000444629,;SLC8A1-AS1,intron_variant,,ENST00000625324,;SLC8A1-AS1,intron_variant,,ENST00000593848,;SLC8A1-AS1,intron_variant,,ENST00000625780,;SLC8A1-AS1,intron_variant,,ENST00000598247,;SLC8A1-AS1,intron_variant,,ENST00000593878,;SLC8A1-AS1,intron_variant,,ENST00000596532,;SLC8A1-AS1,intron_variant,,ENST00000625234,;SLC8A1-AS1,intron_variant,,ENST00000631022,;SLC8A1-AS1,intron_variant,,ENST00000599268,;SLC8A1-AS1,intron_variant,,ENST00000631142,;SLC8A1-AS1,intron_variant,,ENST00000628471,;SLC8A1-AS1,intron_variant,,ENST00000601679,;SLC8A1-AS1,intron_variant,,ENST00000435515,;SLC8A1-AS1,intron_variant,,ENST00000597385,;SLC8A1-AS1,intron_variant,,ENST00000627219,;SLC8A1-AS1,intron_variant,,ENST00000629329,;SLC8A1-AS1,intron_variant,,ENST00000599956,;SLC8A1-AS1,intron_variant,,ENST00000597170,;SLC8A1-AS1,intron_variant,,ENST00000629180,;SLC8A1-AS1,intron_variant,,ENST00000629157,;SLC8A1-AS1,intron_variant,,ENST00000631204,;SLC8A1-AS1,intron_variant,,ENST00000630783,;SLC8A1-AS1,intron_variant,,ENST00000625381,;SLC8A1-AS1,intron_variant,,ENST00000631137,;SLC8A1-AS1,intron_variant,,ENST00000627108,;SLC8A1-AS1,intron_variant,,ENST00000626098,;SLC8A1-AS1,intron_variant,,ENST00000631330,;SLC8A1-AS1,intron_variant,,ENST00000630006,;SLC8A1-AS1,intron_variant,,ENST00000599740,;SLC8A1,3_prime_UTR_variant,,ENST00000407929,;	C	ENST00000403092	Transcript	missense_variant	2753/3178	2719/2922	907/973	L/V	Cta/Gta		1		-1	SLC8A1	HGNC	HGNC:11068	protein_coding	YES	CCDS1806.1	ENSP00000384763	P32418		UPI000012FC46		deleterious(0)		11/11		Pfam_domain:PF01699,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,TIGRFAM_domain:TIGR00845,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	21	40115456	40115456	G	C	1	0	0	0	0	1	0	0	0	14989	1020	36	4		4	SLC8A1	2	40115456	Missense_Mutation	SNP	G	C3L-00913_TP	19444100	40115456	202078073	32	7268											
LRPPRC	0	.	GRCh38	chr2	43946155	43946155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttctactttatcatgtCgacagcataaatttattaaa	14	16	3	8	1	3	0	1	0	2	0	4	1	3	0	0	0	2	1	0	0	7	8	rs754760201		C3L-00913_TP	C3L-00913_NB	C	C																c.2168G>T	p.Arg723Leu	p.R723L	ENST00000260665	21/38	573	503	70	383	383	0	strelka-varscan	LRPPRC,missense_variant,p.Arg723Leu,ENST00000260665,NM_133259.3;LRPPRC,downstream_gene_variant,,ENST00000467058,;	A	ENST00000260665	Transcript	missense_variant	2226/6335	2168/4185	723/1394	R/L	cGa/cTa	rs754760201	1		-1	LRPPRC	HGNC	HGNC:15714	protein_coding	YES	CCDS33189.1	ENSP00000260665	P42704	E5KNY5	UPI000019B4D2	NM_133259.3	deleterious(0.04)		21/38		PROSITE_profiles:PS51375,hmmpanther:PTHR24015,hmmpanther:PTHR24015:SF187,Pfam_domain:PF01535																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	43946155	43946155	C	A	1	0	0	0	0	1	0	0	0	8860	884	31	1		1	LRPPRC	2	43946155	Missense_Mutation	SNP	C	C3L-00913_TP	3830699	43946155	198247374	33	7269											
ETAA1	0	.	GRCh38	chr2	67403965	67403965	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaactgttaaaaatacgtCaagagcaaatacaagtccag	20	8	6	7	1	1	1	1	0	0	1	2	1	2	1	1	0	4	2	1	0	10	4	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1283C>G	p.Ser428Ter	p.S428*	ENST00000272342	5/6	128	118	10	115	115	0	strelka-varscan	ETAA1,stop_gained,p.Ser428Ter,ENST00000272342,NM_019002.3;ETAA1,intron_variant,,ENST00000462772,;	G	ENST00000272342	Transcript	stop_gained	1413/3418	1283/2781	428/926	S/*	tCa/tGa		1		1	ETAA1	HGNC	HGNC:24648	protein_coding	YES	CCDS1882.1	ENSP00000272342	Q9NY74		UPI00001414BC	NM_019002.3			5/6		Pfam_domain:PF15350,hmmpanther:PTHR16434																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	21	67403965	67403965	C	G	1	0	0	0	0	0	1	0	0	5129	838	29	4		4	ETAA1	2	67403965	Nonsense_Mutation	SNP	C	C3L-00913_TP	23457810	67403965	174789564	34	7270											
ADD2	0	.	GRCh38	chr2	70696286	70696286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgggcccagccatagaggtCcaggagtcggtagacactgc	9	6	14	12	1	0	2	0	0	0	2	2	3	1	3	3	4	2	1	3	4	2	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.433G>A	p.Asp145Asn	p.D145N	ENST00000264436	5/16	364	316	48	278	277	1	strelka-varscan	ADD2,missense_variant,p.Asp145Asn,ENST00000264436,NM_001617.3;ADD2,missense_variant,p.Asp145Asn,ENST00000413157,NM_017482.3;ADD2,missense_variant,p.Asp145Asn,ENST00000407644,NM_001185054.1;ADD2,missense_variant,p.Asp145Asn,ENST00000355733,NM_017488.3;ADD2,missense_variant,p.Asp161Asn,ENST00000430656,NM_001185055.1;ADD2,missense_variant,p.Asp145Asn,ENST00000456320,;ADD2,missense_variant,p.Asp145Asn,ENST00000415348,;ADD2,missense_variant,p.Asp145Asn,ENST00000522886,;ADD2,downstream_gene_variant,,ENST00000425976,;AC007395.3,downstream_gene_variant,,ENST00000457851,;ADD2,missense_variant,p.Asp145Asn,ENST00000403045,;	T	ENST00000264436	Transcript	missense_variant	878/9267	433/2181	145/726	D/N	Gac/Aac		1		-1	ADD2	HGNC	HGNC:244	protein_coding	YES	CCDS1906.1	ENSP00000264436	P35612		UPI0000125503	NM_001617.3	deleterious(0)		5/16		hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF6,Pfam_domain:PF00596,Gene3D:3.40.225.10,SMART_domains:SM01007,Superfamily_domains:SSF53639																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	70696286	70696286	C	T	1	0	0	0	0	1	0	0	0	349	855	30	3		3	ADD2	2	70696286	Missense_Mutation	SNP	C	C3L-00913_TP	3292321	70696286	171497243	35	7271											
SFXN5	0	.	GRCh38	chr2	72968459	72968459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaactcacttctccagcatGgacatgacgatcgggggtag	10	8	11	12	2	2	1	1	1	1	0	4	3	2	2	2	3	2	2	2	3	2	2	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.816C>T	p.=	p.S272S	ENST00000272433	12/14	163	143	20	104	104	0	strelka-varscan	SFXN5,missense_variant,p.His224Tyr,ENST00000411783,;SFXN5,synonymous_variant,p.=,ENST00000272433,NM_144579.2;SFXN5,intron_variant,,ENST00000410065,;SFXN5,non_coding_transcript_exon_variant,,ENST00000474528,;SFXN5,non_coding_transcript_exon_variant,,ENST00000461352,;SFXN5,non_coding_transcript_exon_variant,,ENST00000490056,;SFXN5,non_coding_transcript_exon_variant,,ENST00000482289,;SFXN5,non_coding_transcript_exon_variant,,ENST00000495208,;SFXN5,non_coding_transcript_exon_variant,,ENST00000463277,;SFXN5,non_coding_transcript_exon_variant,,ENST00000482542,;SFXN5,downstream_gene_variant,,ENST00000416579,;	A	ENST00000272433	Transcript	synonymous_variant	947/4140	816/1023	272/340	S	tcC/tcT		1		-1	SFXN5	HGNC	HGNC:16073	protein_coding	YES	CCDS1922.1	ENSP00000272433	Q8TD22		UPI000006D292	NM_144579.2			12/14		Pfam_domain:PF03820,hmmpanther:PTHR11153,hmmpanther:PTHR11153:SF17,TIGRFAM_domain:TIGR00798,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	21	72968459	72968459	G	A	1	0	0	0	0	0	0	0	1	14458	1335	47	3		3	SFXN5	2	72968459	Silent	SNP	G	C3L-00913_TP	2272173	72968459	169225070	36	7272											
SLC4A5	0	.	GRCh38	chr2	74252379	74252379	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagctctgctagggagaaCacagatttcctggaagagaa	13	7	11	10	0	1	3	0	0	1	3	2	6	2	4	2	2	3	2	2	2	4	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1278G>C	p.=	p.V426V	ENST00000346834	13/29	203	184	19	113	113	0	strelka-varscan	SLC4A5,synonymous_variant,p.=,ENST00000394019,NM_133478.2;SLC4A5,synonymous_variant,p.=,ENST00000346834,NM_021196.3;SLC4A5,synonymous_variant,p.=,ENST00000423644,;SLC4A5,synonymous_variant,p.=,ENST00000377634,;SLC4A5,synonymous_variant,p.=,ENST00000358683,;SLC4A5,synonymous_variant,p.=,ENST00000377632,;SLC4A5,synonymous_variant,p.=,ENST00000425249,;SLC4A5,non_coding_transcript_exon_variant,,ENST00000483195,;RP11-287D1.3,3_prime_UTR_variant,,ENST00000451608,;SLC4A5,upstream_gene_variant,,ENST00000479776,;	G	ENST00000346834	Transcript	synonymous_variant	1514/6233	1278/3414	426/1137	V	gtG/gtC		1		-1	SLC4A5	HGNC	HGNC:18168	protein_coding	YES	CCDS1936.1	ENSP00000251768	Q9BY07		UPI000013C97B	NM_021196.3			13/29		Gene3D:1hynR00,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF20,Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	21	74252379	74252379	C	G	1	0	0	0	0	0	0	0	1	14934	465	17	4		4	SLC4A5	2	74252379	Silent	SNP	C	C3L-00913_TP	1283920	74252379	167941150	37	7273											
COX5B	0	.	GRCh38	chr2	97646094	97646094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcgcggacgcaatggcttCaaggttacttcgcggagctg	8	9	14	10	5	1	0	1	0	0	0	3	2	1	2	0	4	2	4	0	4	3	3	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.8C>T	p.Ser3Leu	p.S3L	ENST00000258424	1/4	286	259	27	183	183	0	strelka-varscan	COX5B,missense_variant,p.Ser3Leu,ENST00000258424,NM_001862.2;COX5B,upstream_gene_variant,,ENST00000464949,;COX5B,upstream_gene_variant,,ENST00000491989,;COX5B,upstream_gene_variant,,ENST00000494306,;	T	ENST00000258424	Transcript	missense_variant	55/712	8/390	3/129	S/L	tCa/tTa		1		1	COX5B	HGNC	HGNC:2269	protein_coding	YES	CCDS2032.1	ENSP00000258424	P10606		UPI0000128135	NM_001862.2	deleterious(0.03)		1/4		hmmpanther:PTHR10122,hmmpanther:PTHR10122:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	97646094	97646094	C	T	1	0	0	0	0	1	0	0	0	3568	838	29	3		3	COX5B	2	97646094	Missense_Mutation	SNP	C	C3L-00913_TP	23393715	97646094	144547435	38	7274											
SH3RF3	0	.	GRCh38	chr2	109419584	109419584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccccacggctgtcccacggGctgcctcggtgtctggagag	4	7	14	16	3	1	1	0	0	1	1	3	2	2	1	4	4	1	2	4	4	0	0	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1345G>T	p.Ala449Ser	p.A449S	ENST00000309415	5/10	290	272	18	205	204	1	strelka-varscan	SH3RF3,missense_variant,p.Ala449Ser,ENST00000309415,NM_001099289.2;	T	ENST00000309415	Transcript	missense_variant	1538/5803	1345/2649	449/882	A/S	Gct/Tct		1		1	SH3RF3	HGNC	HGNC:24699	protein_coding	YES	CCDS74557.1	ENSP00000309186	Q8TEJ3		UPI0000DD7AEA	NM_001099289.2	tolerated(0.99)		5/10																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	21	109419584	109419584	G	T	1	0	0	0	0	1	0	0	0	14519	1203	42	2		2	SH3RF3	2	109419584	Missense_Mutation	SNP	G	C3L-00913_TP	11773490	109419584	132773945	39	7275											
MCM6	0	.	GRCh38	chr2	135840894	135840894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatcttcttcatagctctCacttccctctgtggagcctt	5	15	8	13	0	5	0	2	0	4	0	7	2	6	2	2	2	2	1	2	2	1	5	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.2407G>A	p.Glu803Lys	p.E803K	ENST00000264156	17/17	319	283	36	242	241	1	strelka-varscan-mutect	MCM6,missense_variant,p.Glu803Lys,ENST00000264156,NM_005915.5;LCT,upstream_gene_variant,,ENST00000264162,NM_002299.2;MCM6,downstream_gene_variant,,ENST00000492091,;	T	ENST00000264156	Transcript	missense_variant	2468/3736	2407/2466	803/821	E/K	Gag/Aag		1		-1	MCM6	HGNC	HGNC:6949	protein_coding	YES	CCDS2179.1	ENSP00000264156	Q14566		UPI0000001611	NM_005915.5	tolerated(0.1)		17/17																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	135840894	135840894	C	T	1	0	0	0	0	1	0	0	0	9323	835	29	3		3	MCM6	2	135840894	Missense_Mutation	SNP	C	C3L-00913_TP	26421310	135840894	106352635	40	7276											
MCM6	0	.	GRCh38	chr2	135857997	135857997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcaaattcatcaatacaaCacacaccctgtaaccaaaca	19	8	1	13	0	3	0	3	0	0	0	3	0	3	0	2	0	4	1	2	0	7	4	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1370G>A	p.Cys457Tyr	p.C457Y	ENST00000264156	10/17	184	174	10	123	123	0	strelka-mutect	MCM6,missense_variant,p.Cys457Tyr,ENST00000264156,NM_005915.5;MCM6,intron_variant,,ENST00000492091,;	T	ENST00000264156	Transcript	missense_variant	1431/3736	1370/2466	457/821	C/Y	tGt/tAt		1		-1	MCM6	HGNC	HGNC:6949	protein_coding	YES	CCDS2179.1	ENSP00000264156	Q14566		UPI0000001611	NM_005915.5	deleterious(0)		10/17		Gene3D:3.40.50.300,Pfam_domain:PF00493,Prints_domain:PR01657,PROSITE_patterns:PS00847,PROSITE_profiles:PS50051,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF73,SMART_domains:SM00350,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	135857997	135857997	C	T	1	0	0	0	0	1	0	0	0	9323	478	17	3		3	MCM6	2	135857997	Missense_Mutation	SNP	C	C3L-00913_TP	17103	135857997	106335532	41	7277											
LRP1B	0	.	GRCh38	chr2	141049057	141049058	+	Frame_Shift_Ins	INS	-	-	A																															taggaaactggtggtgtcagINScaaagtagatgtaattggtt																								novel		C3L-00913_TP	C3L-00913_NB	-	-																c.1717_1718insT	p.Ala573ValfsTer2	p.A573Vfs*2	ENST00000389484	11/91	351	316	35	271	271	0	sindel-varindel	LRP1B,frameshift_variant,p.Ala573ValfsTer2,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	A	ENST00000389484	Transcript	frameshift_variant	2689-2690/16535	1717-1718/13800	573/4599	A/VX	gct/gTct		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2			11/91		PROSITE_profiles:PS51120,Pfam_domain:PF00058,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	21	141049057	141049057	-	A	1	0	1	1	0	0	0	0	0	8850	971	34	0		0	LRP1B	2	141049057	Frame_Shift_Ins	INS	-	C3L-00913_TP	5191060	141049057	101144472	42	7278	167	2									
LRP1B	0	.	GRCh38	chr2	141049058	141049058	+	Missense_Mutation	SNP	C	C	A																															taggaaactggtggtgtcagCaaagtagatgtaattggttt																								novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1717G>T	p.Ala573Ser	p.A573S	ENST00000389484	11/91	399	359	40	281	280	1	strelka-mutect	LRP1B,missense_variant,p.Ala573Ser,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	A	ENST00000389484	Transcript	missense_variant	2689/16535	1717/13800	573/4599	A/S	Gct/Tct		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(0.43)		11/91		PROSITE_profiles:PS51120,Pfam_domain:PF00058,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	141049058	141049058	C	A	1	0	0	0	0	1	0	0	0	8850	710	25	2		2	LRP1B	2	141049058	Missense_Mutation	SNP	C	C3L-00913_TP	1	141049058	101144471	43	7279	167	2									
CYTIP	0	.	GRCh38	chr2	157415826	157415826	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaagggagacatggatcCgctgctggtgttactgatgc	9	9	13	10	1	0	2	0	1	0	1	1	4	1	3	2	3	3	3	2	3	2	1			C3L-00913_TP	C3L-00913_NB	C	C																c.931G>T	p.Gly311Ter	p.G311*	ENST00000264192	8/8	438	406	32	295	295	0	strelka-varscan-mutect	CYTIP,stop_gained,p.Gly311Ter,ENST00000264192,NM_004288.4;CYTIP,downstream_gene_variant,,ENST00000418920,;CYTIP,downstream_gene_variant,,ENST00000457793,;	A	ENST00000264192	Transcript	stop_gained	1053/2260	931/1080	311/359	G/*	Gga/Tga	COSM5006322	1		-1	CYTIP	HGNC	HGNC:9506	protein_coding	YES	CCDS2204.1	ENSP00000264192	O60759		UPI0000035D67	NM_004288.4			8/8		Low_complexity_(Seg):seg,hmmpanther:PTHR15963:SF1,hmmpanther:PTHR15963											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	21	157415826	157415826	C	A	1	0	0	0	0	0	1	0	0	4012	661	23	1		1	CYTIP	2	157415826	Nonsense_Mutation	SNP	C	C3L-00913_TP	16366768	157415826	84777703	44	7280											
BAZ2B	0	.	GRCh38	chr2	159412538	159412538	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctttcaaaagacaccacTgcattcccttttaattaaca	13	14	2	12	0	2	1	1	0	1	1	3	1	3	1	2	0	2	1	2	0	4	6	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.2474A>T	p.Gln825Leu	p.Q825L	ENST00000392783	14/37	325	307	18	249	248	1	strelka-varscan-mutect	BAZ2B,missense_variant,p.Gln825Leu,ENST00000392783,NM_013450.3;BAZ2B,missense_variant,p.Gln789Leu,ENST00000392782,NM_001289975.1;BAZ2B,missense_variant,p.Gln531Leu,ENST00000343439,;BAZ2B,missense_variant,p.Gln159Leu,ENST00000441143,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000482501,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000472953,;	A	ENST00000392783	Transcript	missense_variant	2970/8289	2474/6507	825/2168	Q/L	cAg/cTg		1		-1	BAZ2B	HGNC	HGNC:963	protein_coding	YES	CCDS2209.2	ENSP00000376534	Q9UIF8		UPI0000D74C4A	NM_013450.3	deleterious(0)		14/37		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF154,Superfamily_domains:SSF54171																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	21	159412538	159412538	T	A	1	0	0	0	0	1	0	0	0	1477	1580	55	4		4	BAZ2B	2	159412538	Missense_Mutation	SNP	T	C3L-00913_TP	1996712	159412538	82780991	45	7281											
FIGN	0	.	GRCh38	chr2	163611493	163611493	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggataaacagcttctgaattCaaggaaggctgccagggttc	12	9	12	8	0	2	1	1	1	1	0	3	3	2	3	1	4	3	3	1	4	5	4	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.339G>T	p.Leu113Phe	p.L113F	ENST00000333129	3/3	441	398	43	313	313	0	strelka-varscan-mutect	FIGN,missense_variant,p.Leu113Phe,ENST00000333129,NM_018086.2;FIGN,intron_variant,,ENST00000409634,;FIGN,non_coding_transcript_exon_variant,,ENST00000482917,;	A	ENST00000333129	Transcript	missense_variant	654/9536	339/2280	113/759	L/F	ttG/ttT		1		-1	FIGN	HGNC	HGNC:13285	protein_coding	YES	CCDS2221.2	ENSP00000333836	Q5HY92		UPI000022BD13	NM_018086.2	tolerated(0.48)		3/3		hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	163611493	163611493	C	A	1	0	0	0	0	1	0	0	0	5755	825	29	2		2	FIGN	2	163611493	Missense_Mutation	SNP	C	C3L-00913_TP	4198955	163611493	78582036	46	7282											
FSIP2	0	.	GRCh38	chr2	185794033	185794033	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacaaaatgacagcatcttTtatgattcaagccaagtgga	17	10	7	7	0	2	2	1	2	1	0	2	3	2	3	1	1	3	1	1	1	6	3	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.7164T>C	p.=	p.F2388F	ENST00000343098	16/23	172	150	22	144	144	0	strelka-varscan-mutect	FSIP2,synonymous_variant,p.=,ENST00000343098,NM_173651.2;FSIP2,synonymous_variant,p.=,ENST00000424728,;FSIP2-AS1,intron_variant,,ENST00000436557,;FSIP2-AS1,intron_variant,,ENST00000429929,;FSIP2,upstream_gene_variant,,ENST00000415915,;	C	ENST00000343098	Transcript	synonymous_variant	7164/21054	7164/20991	2388/6996	F	ttT/ttC		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2			16/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	LOW		SNV	5			1										PASS		rs1442251252	.												C	2	2	21	185794033	185794033	T	C	1	0	0	0	0	0	0	0	1	5949	1838	64	5		5	FSIP2	2	185794033	Silent	SNP	T	C3L-00913_TP	22182540	185794033	56399496	47	7283											
PLCL1	0	.	GRCh38	chr2	198085539	198085539	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgaattttcagactccGggtccaatgatggaccttca	11	11	9	10	1	2	3	2	2	0	1	4	4	4	4	3	2	0	1	3	2	3	3	rs558973603		C3L-00913_TP	C3L-00913_NB	G	G																c.2022G>T	p.=	p.P674P	ENST00000428675	2/6	236	211	25	178	177	1	strelka-varscan-mutect	PLCL1,synonymous_variant,p.=,ENST00000437704,;PLCL1,synonymous_variant,p.=,ENST00000428675,NM_006226.3;PLCL1,synonymous_variant,p.=,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	T	ENST00000428675	Transcript	synonymous_variant	2420/5125	2022/3288	674/1095	P	ccG/ccT	rs558973603,COSM1530062,COSM1530063	1		1	PLCL1	HGNC	HGNC:9063	protein_coding	YES	CCDS2326.2	ENSP00000402861	Q15111		UPI000165BCF5	NM_006226.3			2/6		PROSITE_profiles:PS50008,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF102,Pfam_domain:PF00387,Gene3D:3.20.20.190,SMART_domains:SM00149,Superfamily_domains:SSF51695,Prints_domain:PR00390											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs558973603	.												T	2	4	21	198085539	198085539	G	T	1	0	0	0	0	0	0	0	1	12133	1103	39	1		1	PLCL1	2	198085539	Silent	SNP	G	C3L-00913_TP	12291506	198085539	44107990	48	7284											
MROH2A	0	.	GRCh38	chr2	233814656	233814656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaggcagctggaccccaaGgggctgcaggagatggtgca	10	4	17	10	0	0	2	0	0	0	2	0	4	0	3	2	6	3	5	2	6	1	0	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.2844G>T	p.Lys948Asn	p.K948N	ENST00000610772	26/42	169	144	25	114	114	0	strelka-varscan-mutect	MROH2A,missense_variant,p.Lys945Asn,ENST00000389758,;MROH2A,missense_variant,p.Lys948Asn,ENST00000610772,NM_001287395.1;	T	ENST00000610772	Transcript	missense_variant	2937/5324	2844/5067	948/1688	K/N	aaG/aaT		1		1	MROH2A	HGNC	HGNC:27936	protein_coding	YES	CCDS74674.1	ENSP00000477597		A0A087WT58	UPI00021AED4F	NM_001287395.1	deleterious(0.03)		26/42		Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	21	233814656	233814656	G	T	1	0	0	0	0	1	0	0	0	9744	991	35	2		2	MROH2A	2	233814656	Missense_Mutation	SNP	G	C3L-00913_TP	35729117	233814656	8378873	49	7285											
ITPR1	0	.	GRCh38	chr3	4693539	4693539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttctacaacgacagagcctCtttccagactctgatccaga	11	10	7	13	1	3	4	0	1	3	3	5	5	5	4	3	0	3	1	3	0	2	3			C3L-00913_TP	C3L-00913_NB	C	C																c.4034C>G	p.Ser1345Cys	p.S1345C	ENST00000302640	32/61	250	236	14	167	167	0	strelka-varscan-mutect	ITPR1,missense_variant,p.Ser1360Cys,ENST00000354582,;ITPR1,missense_variant,p.Ser1345Cys,ENST00000302640,NM_001168272.1;ITPR1,missense_variant,p.Ser1351Cys,ENST00000357086,NM_001099952.2;ITPR1,missense_variant,p.Ser1336Cys,ENST00000456211,NM_002222.5;ITPR1,missense_variant,p.Ser1345Cys,ENST00000443694,;ITPR1,intron_variant,,ENST00000544951,;	G	ENST00000302640	Transcript	missense_variant	4384/10197	4034/8232	1345/2743	S/C	tCt/tGt	COSM261461	1		1	ITPR1	HGNC	HGNC:6180	protein_coding	YES	CCDS54551.1	ENSP00000306253	Q14643		UPI0000E5A461	NM_001168272.1	deleterious(0)		32/61		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF52											1						MODERATE	1	SNV	5		1	1										PASS		.	.												G	3	3	21	4693539	4693539	C	G	1	0	0	0	0	1	0	0	0	7826	913	32	4		4	ITPR1	3	4693539	Missense_Mutation	SNP	C	C3L-00913_TP		4693539	193602020	50	7286											
GRIP2	0	.	GRCh38	chr3	14523639	14523639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaaagccaaagctattgcCctccttgtagagggagacgt	12	8	11	10	1	0	2	0	0	0	2	1	4	1	2	3	1	3	2	3	1	4	4	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.754G>T	p.Gly252Cys	p.G252C	ENST00000619221	6/25	250	222	28	214	214	0	strelka-varscan-mutect	GRIP2,missense_variant,p.Gly252Cys,ENST00000619221,;GRIP2,missense_variant,p.Gly155Cys,ENST00000621039,NM_001080423.3;GRIP2,missense_variant,p.Gly160Cys,ENST00000637182,;GRIP2,downstream_gene_variant,,ENST00000637939,;GRIP2,non_coding_transcript_exon_variant,,ENST00000422481,;GRIP2,non_coding_transcript_exon_variant,,ENST00000413414,;	A	ENST00000619221	Transcript	missense_variant	754/7977	754/3423	252/1140	G/C	Ggc/Tgc		1		-1	GRIP2	HGNC	HGNC:23841	protein_coding	YES		ENSP00000480660		A0A087WX15	UPI0001DD380B		deleterious(0)		6/25		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF42,Superfamily_domains:SSF50156																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	21	14523639	14523639	C	A	1	0	0	0	0	1	0	0	0	6669	623	22	2		2	GRIP2	3	14523639	Missense_Mutation	SNP	C	C3L-00913_TP	9830100	14523639	183771920	51	7287											
MYL3	0	.	GRCh38	chr3	46859502	46859502	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccagcacgtggcgaagctCagcacccatgacagtgccat	10	5	12	14	2	1	1	1	1	0	0	1	2	1	1	3	2	4	3	3	2	1	0	rs199474705		C3L-00913_TP	C3L-00913_NB	C	C																c.454G>C	p.Glu152Gln	p.E152Q	ENST00000395869	4/6	240	218	22	216	216	0	strelka-varscan-mutect	MYL3,missense_variant,p.Glu152Gln,ENST00000395869,;MYL3,missense_variant,p.Glu152Gln,ENST00000292327,NM_000258.2;MYL3,downstream_gene_variant,,ENST00000431168,;	G	ENST00000395869	Transcript	missense_variant	506/1012	454/588	152/195	E/Q	Gag/Cag	rs199474705,CM0910617	1		-1	MYL3	HGNC	HGNC:7584	protein_coding	YES	CCDS2746.1	ENSP00000379210	P08590	A0A024R2Q5	UPI0000000CA2		deleterious(0)		4/6		Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR23048,hmmpanther:PTHR23048:SF2,Superfamily_domains:SSF47473										not_provided		20031618					MODERATE	1	SNV	1		1,1	1										PASS		rs199474705	.												G	3	3	21	46859502	46859502	C	G	1	0	0	0	0	1	0	0	0	10048	835	29	4		4	MYL3	3	46859502	Missense_Mutation	SNP	C	C3L-00913_TP	32335863	46859502	151436057	52	7288											
ZNF717	0	.	GRCh38	chr3	75737293	75737293	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctgagtgagtccccTgatgcgtactgaggtttgac	6	13	11	11	1	1	5	0	5	1	0	4	5	3	5	3	1	2	2	3	1	1	2	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.2180A>T	p.Gln727Leu	p.Q727L	ENST00000478296	4/4	381	345	36	342	342	0	varscan-mutect	ZNF717,missense_variant,p.Gln727Leu,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001290210.1;ZNF717,downstream_gene_variant,,ENST00000468296,;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,;	A	ENST00000478296	Transcript	missense_variant	2457/3875	2180/2595	727/864	Q/L	cAg/cTg		1		-1	ZNF717	HGNC	HGNC:29448	protein_coding	YES	CCDS77773.1	ENSP00000419377		C9JVC3	UPI0001B794C0	NM_001290209.1	deleterious(0)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF241,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	21	75737293	75737293	T	A	1	0	0	0	0	1	0	0	0	18695	1580	55	4		4	ZNF717	3	75737293	Missense_Mutation	SNP	T	C3L-00913_TP	28877791	75737293	122558266	53	7289											
ADGRG7	0	.	GRCh38	chr3	100646104	100646104	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgacatggtctttagtcCaaaggtgagtttttcattgc	8	17	10	6	0	2	2	1	2	1	0	3	2	3	2	1	2	1	2	1	2	2	6	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1106C>A	p.Pro369Gln	p.P369Q	ENST00000273352	9/16	289	258	31	185	185	0	strelka-varscan-mutect	ADGRG7,missense_variant,p.Pro369Gln,ENST00000273352,NM_032787.2;ADGRG7,missense_variant,p.Pro74Gln,ENST00000475887,NM_001308362.1;SNORA31,upstream_gene_variant,,ENST00000517180,;ADGRG7,downstream_gene_variant,,ENST00000481361,;	A	ENST00000273352	Transcript	missense_variant	1374/3140	1106/2394	369/797	P/Q	cCa/cAa		1		1	ADGRG7	HGNC	HGNC:19241	protein_coding	YES	CCDS2938.1	ENSP00000273352	Q96K78		UPI000004B6DF	NM_032787.2	deleterious(0.03)		9/16		hmmpanther:PTHR12011:SF305,hmmpanther:PTHR12011																	MODERATE	1	SNV	1			1										PASS		rs1476513280	.												A	3	1	21	100646104	100646104	C	A	1	0	0	0	0	1	0	0	0	374	608	21	2		2	ADGRG7	3	100646104	Missense_Mutation	SNP	C	C3L-00913_TP	24908811	100646104	97649455	54	7290											
IMPG2	0	.	GRCh38	chr3	101275727	101275727	+	Frame_Shift_Del	DEL	G	G	-																															aggcgtccacctctggatgtGgaacactgagagtagtgtct																								novel		C3L-00913_TP	C3L-00913_NB	G	G																c.602delC	p.Pro201HisfsTer30	p.P201Hfs*30	ENST00000193391	6/19	394	362	32	301	301	0	sindel-varindel-pindel	IMPG2,frameshift_variant,p.Pro201HisfsTer30,ENST00000193391,NM_016247.3;	-	ENST00000193391	Transcript	frameshift_variant	790/8337	602/3726	201/1241	P/X	cCa/ca		1		-1	IMPG2	HGNC	HGNC:18362	protein_coding	YES	CCDS2940.1	ENSP00000193391	Q9BZV3	F1T0J3	UPI000013C605	NM_016247.3			6/19		hmmpanther:PTHR12199,hmmpanther:PTHR12199:SF4																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	21	101275727	101275727	G	-	1	0	1	0	1	0	0	0	0	7631	1348	47	0		0	IMPG2	3	101275727	Frame_Shift_Del	DEL	G	C3L-00913_TP	629623	101275727	97019832	55	7291											
UPK1B	0	.	GRCh38	chr3	119194378	119194378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggcttgtaaactaggcgtgCctggtttttatcacaatcag	10	13	10	8	1	2	0	2	0	0	0	2	0	2	0	1	3	2	3	1	3	5	6	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.628C>A	p.Pro210Thr	p.P210T	ENST00000264234	6/8	171	153	18	135	135	0	varscan-mutect	UPK1B,missense_variant,p.Pro210Thr,ENST00000264234,NM_006952.3;UPK1B,missense_variant,p.Pro202Thr,ENST00000460625,;UPK1B,missense_variant,p.Pro130Thr,ENST00000497685,;UPK1B,downstream_gene_variant,,ENST00000479520,;UPK1B,downstream_gene_variant,,ENST00000494855,;	A	ENST00000264234	Transcript	missense_variant	777/2118	628/783	210/260	P/T	Cct/Act		1		1	UPK1B	HGNC	HGNC:12578	protein_coding	YES	CCDS2985.1	ENSP00000264234	O75841		UPI000013D4E8	NM_006952.3	tolerated(0.68)		6/8		hmmpanther:PTHR19282:SF24,hmmpanther:PTHR19282,Pfam_domain:PF00335,Superfamily_domains:0037997																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	119194378	119194378	C	A	1	0	0	0	0	1	0	0	0	17534	739	26	2		2	UPK1B	3	119194378	Missense_Mutation	SNP	C	C3L-00913_TP	17918651	119194378	79101181	56	7292											
STXBP5L	0	.	GRCh38	chr3	121233638	121233638	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaagaaccctatgctgtCgtggtacttctggagaaaga	11	12	10	8	1	2	3	1	0	1	3	3	4	2	3	1	2	3	2	1	2	5	4	rs189961487		C3L-00913_TP	C3L-00913_NB	C	C																c.1134C>A	p.=	p.V378V	ENST00000273666	12/28	244	225	19	173	172	1	strelka-varscan-mutect	STXBP5L,synonymous_variant,p.=,ENST00000273666,NM_014980.2;STXBP5L,synonymous_variant,p.=,ENST00000471454,NM_001308330.1;STXBP5L,synonymous_variant,p.=,ENST00000471262,;STXBP5L,synonymous_variant,p.=,ENST00000492541,;STXBP5L,synonymous_variant,p.=,ENST00000472879,;STXBP5L,synonymous_variant,p.=,ENST00000497029,;	A	ENST00000273666	Transcript	synonymous_variant	1405/9496	1134/3561	378/1186	V	gtC/gtA	rs189961487	1		1	STXBP5L	HGNC	HGNC:30757	protein_coding	YES	CCDS43137.1	ENSP00000273666	Q9Y2K9		UPI00001C1DEA	NM_014980.2			12/28		hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Pfam_domain:PF08366,Prints_domain:PR00962																	LOW	1	SNV	1			1										PASS		rs189961487	.												A	2	1	21	121233638	121233638	C	A	1	0	0	0	0	0	0	0	1	15741	871	31	1		1	STXBP5L	3	121233638	Silent	SNP	C	C3L-00913_TP	2039260	121233638	77061921	57	7293											
IQCB1	0	.	GRCh38	chr3	121795483	121795484	+	Frame_Shift_Ins	INS	-	-	G																															tcctctgcaaagcaatcacaINSgcagatggaagcttctttaa																								novel		C3L-00913_TP	C3L-00913_NB	-	-																c.959dupC	p.Val321CysfsTer21	p.V321Cfs*21	ENST00000310864	10/15	354	316	38	284	284	0	sindel-varindel-pindel	IQCB1,frameshift_variant,p.Val321CysfsTer21,ENST00000310864,NM_001319107.1,NM_001023570.2;IQCB1,frameshift_variant,p.Val137CysfsTer?,ENST00000460108,;IQCB1,intron_variant,,ENST00000349820,NM_001023571.2;IQCB1,downstream_gene_variant,,ENST00000498104,;IQCB1,intron_variant,,ENST00000393650,;	G	ENST00000310864	Transcript	frameshift_variant	1174-1175/2594	959-960/1797	320/598	A/AX	gct/gcCt		1		-1	IQCB1	HGNC	HGNC:28949	protein_coding	YES	CCDS33837.1	ENSP00000311505	Q15051		UPI0000139154	NM_001319107.1,NM_001023570.2			10/15		PROSITE_profiles:PS50096,hmmpanther:PTHR15673,Superfamily_domains:SSF52540																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	21	121795483	121795483	-	G	1	0	1	1	0	0	0	0	0	7707	175	7	0		0	IQCB1	3	121795483	Frame_Shift_Ins	INS	-	C3L-00913_TP	561845	121795483	76500076	58	7294											
HEG1	0	.	GRCh38	chr3	125019544	125019544	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtctcagtctgagacaTgggacttccattttgcacct	9	12	8	12	0	2	1	1	1	2	1	4	3	3	2	2	1	1	1	2	1	0	3	rs751829674		C3L-00913_TP	C3L-00913_NB	T	T																c.1306A>T	p.Met436Leu	p.M436L	ENST00000311127	5/17	159	140	19	95	95	0	strelka-varscan-mutect	HEG1,missense_variant,p.Met436Leu,ENST00000311127,NM_020733.1;HEG1,upstream_gene_variant,,ENST00000477536,;	A	ENST00000311127	Transcript	missense_variant	1374/9156	1306/4146	436/1381	M/L	Atg/Ttg	rs751829674	1		-1	HEG1	HGNC	HGNC:29227	protein_coding	YES	CCDS46898.1	ENSP00000311502	Q9ULI3		UPI00006C069B	NM_020733.1	tolerated(0.31)		5/17		hmmpanther:PTHR24037:SF3,hmmpanther:PTHR24037																	MODERATE	1	SNV	5			1										PASS		rs751829674	.												A	3	1	21	125019544	125019544	T	A	1	0	0	0	0	1	0	0	0	6926	1464	51	4		4	HEG1	3	125019544	Missense_Mutation	SNP	T	C3L-00913_TP	3224061	125019544	73276015	59	7295											
SI	0	.	GRCh38	chr3	165015130	165015130	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgatttagtacctttgccCaacaaatgtcattggtgttt	10	16	7	8	1	1	0	1	0	0	0	2	1	1	0	2	1	3	2	2	1	4	6	rs776755426		C3L-00913_TP	C3L-00913_NB	C	C																c.3992G>T	p.Trp1331Leu	p.W1331L	ENST00000264382	33/48	444	404	40	319	318	1	strelka-varscan	SI,missense_variant,p.Trp1331Leu,ENST00000264382,NM_001041.3;	A	ENST00000264382	Transcript	missense_variant	4055/6011	3992/5484	1331/1827	W/L	tGg/tTg	rs776755426,COSM354351	1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	tolerated(0.08)		33/48		Pfam_domain:PF01055,Superfamily_domains:SSF51445											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	21	165015130	165015130	C	A	1	0	0	0	0	1	0	0	0	14561	595	21	2		2	SI	3	165015130	Missense_Mutation	SNP	C	C3L-00913_TP	39995586	165015130	33280429	60	7296											
COX7B2	0	.	GRCh38	chr4	46735136	46735136	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatgtcttgccatgctttgCagaatgctttgaatcttgag	8	16	9	8	0	2	3	0	2	2	1	2	3	2	3	1	0	4	3	1	0	3	5	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.57G>T	p.=	p.L19L	ENST00000396533	4/4	254	210	44	169	169	0	strelka-varscan-mutect	COX7B2,synonymous_variant,p.=,ENST00000396533,;COX7B2,synonymous_variant,p.=,ENST00000543208,;COX7B2,synonymous_variant,p.=,ENST00000355591,NM_130902.2;COX7B2,synonymous_variant,p.=,ENST00000505102,;	A	ENST00000396533	Transcript	synonymous_variant	308/617	57/246	19/81	L	ctG/ctT		1		-1	COX7B2	HGNC	HGNC:24381	protein_coding	YES	CCDS3472.2	ENSP00000379784	Q8TF08		UPI000005034B				4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR16716:SF1,hmmpanther:PTHR16716,Pfam_domain:PF05392																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	21	46735136	46735136	C	A	1	0	0	0	0	0	0	0	1	3578	697	25	2		2	COX7B2	4	46735136	Silent	SNP	C	C3L-00913_TP		46735136	143479419	61	7297											
MTTP	0	.	GRCh38	chr4	99582063	99582063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactatggaggaatcctgatGgtgatgatgaccagttgatc	11	12	12	6	0	0	5	0	5	0	0	2	7	1	7	2	3	1	1	2	3	3	3	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.301G>A	p.Gly101Ser	p.G101S	ENST00000511045	2/18	373	350	23	279	279	0	strelka-varscan-mutect	MTTP,missense_variant,p.Gly74Ser,ENST00000457717,NM_000253.3;MTTP,missense_variant,p.Gly74Ser,ENST00000265517,;MTTP,missense_variant,p.Gly101Ser,ENST00000511045,NM_001300785.1;MTTP,missense_variant,p.Gly74Ser,ENST00000422897,;MTTP,missense_variant,p.Gly84Ser,ENST00000506883,;MTTP,3_prime_UTR_variant,,ENST00000515141,;MTTP,3_prime_UTR_variant,,ENST00000513404,;MTTP,3_prime_UTR_variant,,ENST00000505094,;MTTP,downstream_gene_variant,,ENST00000511610,;MTTP,downstream_gene_variant,,ENST00000505142,;	A	ENST00000511045	Transcript	missense_variant	314/3154	301/2766	101/921	G/S	Ggt/Agt		1		1	MTTP	HGNC	HGNC:7467	protein_coding	YES	CCDS75169.1	ENSP00000427679		E9PBP6	UPI0001D3B6EF	NM_001300785.1	tolerated(0.23)		2/18		Gene3D:1lshA01,Pfam_domain:PF01347,PROSITE_profiles:PS51211,hmmpanther:PTHR13024,hmmpanther:PTHR13024:SF1,SMART_domains:SM00638,Superfamily_domains:SSF56968																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	21	99582063	99582063	G	A	1	0	0	0	0	1	0	0	0	9961	1348	47	3		3	MTTP	4	99582063	Missense_Mutation	SNP	G	C3L-00913_TP	52846927	99582063	90632492	62	7298											
ANKRD50	0	.	GRCh38	chr4	124670372	124670372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgcttctacgtttgcacCattttctaaaaaatattcgg	11	16	5	9	2	2	0	0	0	2	0	3	0	2	0	1	1	3	3	1	1	5	9	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.2905G>T	p.Gly969Cys	p.G969C	ENST00000504087	4/5	265	248	17	263	262	1	strelka-varscan-mutect	ANKRD50,missense_variant,p.Gly969Cys,ENST00000504087,NM_020337.2;ANKRD50,missense_variant,p.Gly790Cys,ENST00000515641,NM_001167882.1;	A	ENST00000504087	Transcript	missense_variant	3943/8794	2905/4290	969/1429	G/C	Ggt/Tgt		1		-1	ANKRD50	HGNC	HGNC:29223	protein_coding	YES	CCDS34060.1	ENSP00000425658	Q9ULJ7		UPI00002377E8	NM_020337.2	deleterious(0)		4/5		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24151,hmmpanther:PTHR24151:SF1,Pfam_domain:PF13637,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	21	124670372	124670372	C	A	1	0	0	0	0	1	0	0	0	781	594	21	2		2	ANKRD50	4	124670372	Missense_Mutation	SNP	C	C3L-00913_TP	25088309	124670372	65544183	63	7299											
EDNRA	0	.	GRCh38	chr4	147532506	147532506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccattaccctttttttcagGtacagagcagttgcctcctg	7	15	7	12	0	1	1	1	0	0	1	3	1	3	1	4	1	4	3	4	1	2	6	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.549G>T	p.Arg183Ser	p.R183S	ENST00000324300	4/8	195	184	11	195	194	1	varscan-mutect	EDNRA,missense_variant,p.Arg183Ser,ENST00000324300,NM_001957.3;EDNRA,splice_region_variant,,ENST00000511804,NM_001256283.1;EDNRA,intron_variant,,ENST00000358556,NM_001166055.1;EDNRA,intron_variant,,ENST00000506066,;EDNRA,splice_region_variant,,ENST00000503721,;EDNRA,splice_region_variant,,ENST00000514245,;EDNRA,intron_variant,,ENST00000510697,;	T	ENST00000324300	Transcript	missense_variant,splice_region_variant	1064/4135	549/1284	183/427	R/S	agG/agT		1		1	EDNRA	HGNC	HGNC:3179	protein_coding	YES	CCDS3769.1	ENSP00000315011	P25101		UPI00000503F9	NM_001957.3	deleterious(0)		4/8		PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF31,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	147532506	147532506	G	T	1	0	0	0	0	1	0	0	0	4747	1275	44	2		2	EDNRA	4	147532506	Missense_Mutation	SNP	G	C3L-00913_TP	22862134	147532506	42682049	64	7300											
TENM3	0	.	GRCh38	chr4	182730933	182730933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttggtatttgaacgatccCcattcctcactcagtatcat	9	15	5	12	1	3	1	3	1	0	0	5	2	5	1	3	1	1	2	3	1	3	5	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.2761C>A	p.Pro921Thr	p.P921T	ENST00000511685	16/28	277	258	19	197	195	2	strelka-varscan-mutect	TENM3,missense_variant,p.Pro921Thr,ENST00000511685,NM_001080477.2;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;	A	ENST00000511685	Transcript	missense_variant	2884/10896	2761/8100	921/2699	P/T	Cca/Aca		1		1	TENM3	HGNC	HGNC:29944	protein_coding	YES	CCDS47165.1	ENSP00000424226	Q9P273	A0A140VJW8	UPI00006C0820	NM_001080477.2	deleterious(0)		16/28		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,Superfamily_domains:SSF49464																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	21	182730933	182730933	C	A	1	0	0	0	0	1	0	0	0	16173	623	22	2		2	TENM3	4	182730933	Missense_Mutation	SNP	C	C3L-00913_TP	35198427	182730933	7483622	65	7301											
ADAMTS16	0	.	GRCh38	chr5	5303763	5303763	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggctggtgtccgcctggtcCcaggtaggtgcactggtctc	3	11	15	12	1	1	0	0	0	1	0	4	0	3	0	3	6	1	3	3	6	1	1	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.3183C>A	p.=	p.S1061S	ENST00000274181	20/23	251	217	34	160	160	0	strelka-varscan-mutect	ADAMTS16,synonymous_variant,p.=,ENST00000274181,NM_139056.2;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	A	ENST00000274181	Transcript	synonymous_variant	3321/4979	3183/3675	1061/1224	S	tcC/tcA		1		1	ADAMTS16	HGNC	HGNC:17108	protein_coding	YES	CCDS43299.1	ENSP00000274181	Q8TE57		UPI00004572CA	NM_139056.2			20/23		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	21	5303763	5303763	C	A	1	0	0	0	0	0	0	0	1	305	637	22	2		2	ADAMTS16	5	5303763	Silent	SNP	C	C3L-00913_TP		5303763	176234496	66	7302											
ADAMTS12	0	.	GRCh38	chr5	33637746	33637746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatttccctccaaactttggCctgcaaatgaaacagacaag	14	10	6	11	0	0	2	0	1	0	1	2	2	2	2	3	1	3	1	3	1	5	3			C3L-00913_TP	C3L-00913_NB	C	C																c.1719G>T	p.Glu573Asp	p.E573D	ENST00000504830	12/24	168	151	17	117	117	0	strelka-varscan	ADAMTS12,missense_variant,p.Glu573Asp,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Glu573Asp,ENST00000352040,;ADAMTS12,splice_region_variant,,ENST00000504582,;	A	ENST00000504830	Transcript	missense_variant,splice_region_variant	2055/8774	1719/4785	573/1594	E/D	gaG/gaT	COSM3381238	1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	tolerated(0.22)		12/24		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,SMART_domains:SM00209,Superfamily_domains:SSF82895											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	21	33637746	33637746	C	A	1	0	0	0	0	1	0	0	0	301	753	26	2		2	ADAMTS12	5	33637746	Missense_Mutation	SNP	C	C3L-00913_TP	28333983	33637746	147900513	67	7303											
RICTOR	0	.	GRCh38	chr5	38950188	38950188	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgttgtagtgtctgtattGaaactttggctacgtatctt	7	19	9	6	1	2	1	0	1	2	0	2	1	2	1	0	1	2	5	0	1	5	9	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.3660C>T	p.=	p.F1220F	ENST00000296782	31/39	270	255	15	258	258	0	strelka-varscan	RICTOR,synonymous_variant,p.=,ENST00000357387,NM_152756.4,NM_001285440.1;RICTOR,synonymous_variant,p.=,ENST00000296782,NM_001285439.1;RICTOR,downstream_gene_variant,,ENST00000503698,;RICTOR,3_prime_UTR_variant,,ENST00000511516,;OSMR,downstream_gene_variant,,ENST00000509237,;	A	ENST00000296782	Transcript	synonymous_variant	3682/7505	3660/5199	1220/1732	F	ttC/ttT		1		-1	RICTOR	HGNC	HGNC:28611	protein_coding	YES	CCDS68861.1	ENSP00000296782	Q6R327		UPI0000EE67F5	NM_001285439.1			31/39																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	21	38950188	38950188	G	A	1	0	0	0	0	0	0	0	1	13531	1281	45	3		3	RICTOR	5	38950188	Silent	SNP	G	C3L-00913_TP	5312442	38950188	142588071	68	7304											
POU5F2	0	.	GRCh38	chr5	93740850	93740850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaatgtggctgatttgCtggggtgtgggcttagggca	6	11	17	7	0	0	1	0	1	0	0	0	1	0	1	1	5	2	5	1	5	2	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.714G>T	p.Gln238His	p.Q238H	ENST00000606183	1/1	502	457	45	315	314	1	strelka-varscan	POU5F2,missense_variant,p.Gln238His,ENST00000606183,NM_153216.1;FAM172A,intron_variant,,ENST00000395965,NM_032042.5;FAM172A,intron_variant,,ENST00000505869,NM_001163418.1;FAM172A,intron_variant,,ENST00000509163,NM_001163417.1;FAM172A,intron_variant,,ENST00000509739,;RP11-185E12.2,upstream_gene_variant,,ENST00000606528,;FAM172A,intron_variant,,ENST00000502503,;	A	ENST00000606183	Transcript	missense_variant	788/8418	714/987	238/328	Q/H	caG/caT		1		-1	POU5F2	HGNC	HGNC:26367	protein_coding	YES	CCDS59489.1	ENSP00000489796	Q8N7G0		UPI0000135E4C	NM_153216.1	deleterious(0.04)		1/1		PROSITE_profiles:PS50071,hmmpanther:PTHR11636:SF14,hmmpanther:PTHR11636,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE		SNV				1										PASS		.	.												A	3	1	21	93740850	93740850	C	A	1	0	0	0	0	1	0	0	0	12399	796	28	2		2	POU5F2	5	93740850	Missense_Mutation	SNP	C	C3L-00913_TP	54790662	93740850	87797409	69	7305											
TTC37	0	.	GRCh38	chr5	95528142	95528142	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgcaccaagattatctacGatcttcagagctgacaaaat	15	9	7	10	2	3	3	1	1	2	2	3	5	3	3	1	0	2	2	1	0	5	3	rs774106534		C3L-00913_TP	C3L-00913_NB	G	G																c.1005C>T	p.=	p.I335I	ENST00000358746	13/43	569	509	60	332	332	0	strelka-varscan	TTC37,synonymous_variant,p.=,ENST00000358746,NM_014639.3;TTC37,synonymous_variant,p.=,ENST00000514952,;TTC37,non_coding_transcript_exon_variant,,ENST00000504421,;TTC37,intron_variant,,ENST00000505578,;TTC37,upstream_gene_variant,,ENST00000513232,;TTC37,downstream_gene_variant,,ENST00000503279,;	A	ENST00000358746	Transcript	synonymous_variant	1304/5706	1005/4695	335/1564	I	atC/atT	rs774106534,COSM3618827	1		-1	TTC37	HGNC	HGNC:23639	protein_coding	YES	CCDS4072.1	ENSP00000351596	Q6PGP7		UPI00000709BD	NM_014639.3			13/43		Gene3D:1.25.40.10,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR15704,hmmpanther:PTHR15704:SF7,SMART_domains:SM00028,Superfamily_domains:SSF48452											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												A	2	1	21	95528142	95528142	G	A	1	0	0	0	0	0	0	0	1	17214	1048	37	1		1	TTC37	5	95528142	Silent	SNP	G	C3L-00913_TP	1787292	95528142	86010117	70	7306											
SH3PXD2B	0	.	GRCh38	chr5	172353917	172353917	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccagccttccaggtttttCtggatgacctccaccacagc	8	10	7	16	0	1	1	0	1	1	0	3	2	3	2	6	2	2	1	6	2	0	3	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.756G>C	p.Gln252His	p.Q252H	ENST00000311601	9/13	471	435	36	345	345	0	strelka-varscan	SH3PXD2B,missense_variant,p.Gln252His,ENST00000311601,NM_001017995.2;SH3PXD2B,missense_variant,p.Gln266His,ENST00000636523,;SH3PXD2B,missense_variant,p.Gln252His,ENST00000519643,NM_001308175.1;SH3PXD2B,upstream_gene_variant,,ENST00000518522,;	G	ENST00000311601	Transcript	missense_variant	927/7777	756/2736	252/911	Q/H	caG/caC		1		-1	SH3PXD2B	HGNC	HGNC:29242	protein_coding	YES	CCDS34291.1	ENSP00000309714	A1X283		UPI000020C12E	NM_001017995.2	tolerated(0.11)		9/13		Gene3D:2.30.30.40,Pfam_domain:PF00018,PROSITE_profiles:PS50002,hmmpanther:PTHR15706,hmmpanther:PTHR15706:SF8,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	21	172353917	172353917	C	G	1	0	0	0	0	1	0	0	0	14516	912	32	4		4	SH3PXD2B	5	172353917	Missense_Mutation	SNP	C	C3L-00913_TP	76825775	172353917	9184342	71	7307											
BTNL9	0	.	GRCh38	chr5	181056581	181056581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggagaaggtatccaGgctgcctctaactccacaac	10	8	8	15	0	1	1	0	0	1	1	4	2	4	1	5	3	3	2	5	3	4	2	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.999G>T	p.Gln333His	p.Q333H	ENST00000376841	10/11	255	213	42	164	164	0	strelka-varscan	BTNL9,missense_variant,p.Gln333His,ENST00000376841,NM_001308245.1;BTNL9,intron_variant,,ENST00000327705,NM_152547.4;BTNL9,downstream_gene_variant,,ENST00000515271,;BTNL9,downstream_gene_variant,,ENST00000511589,;BTNL9,intron_variant,,ENST00000512570,;BTNL9,downstream_gene_variant,,ENST00000491209,;BTNL9,downstream_gene_variant,,ENST00000506782,;BTNL9,downstream_gene_variant,,ENST00000509395,;BTNL9,downstream_gene_variant,,ENST00000511056,;	T	ENST00000376841	Transcript	missense_variant	1230/1626	999/1035	333/344	Q/H	caG/caT		1		1	BTNL9	HGNC	HGNC:24176	protein_coding		CCDS78104.1	ENSP00000366037	Q6UXG8		UPI000021FB76	NM_001308245.1	tolerated_low_confidence(0.46)		10/11																			MODERATE		SNV	1			1										PASS		.	.												T	3	4	21	181056581	181056581	G	T	1	0	0	0	0	1	0	0	0	1744	991	35	2		2	BTNL9	5	181056581	Missense_Mutation	SNP	G	C3L-00913_TP	8702664	181056581	481678	72	7308											
DSP	0	.	GRCh38	chr6	7580333	7580333	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccatccaccagctcacCatgcagaaggaagaggatac	15	4	8	14	0	1	2	1	0	0	2	2	4	2	4	5	2	3	2	5	2	3	1	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.4143C>A	p.=	p.T1381T	ENST00000379802	23/24	228	189	39	210	209	1	strelka-varscan-mutect	DSP,synonymous_variant,p.=,ENST00000379802,NM_004415.2;DSP,intron_variant,,ENST00000418664,NM_001008844.1;	A	ENST00000379802	Transcript	synonymous_variant	4484/9796	4143/8616	1381/2871	T	acC/acA		1		1	DSP	HGNC	HGNC:3052	protein_coding	YES	CCDS4501.1	ENSP00000369129	P15924		UPI000013C67F	NM_004415.2			23/24		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF234,PD936484																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	21	7580333	7580333	C	A	1	0	0	0	0	0	0	0	1	4602	581	21	2		2	DSP	6	7580333	Silent	SNP	C	C3L-00913_TP		7580333	163225646	73	7309											
ID4	0	.	GRCh38	chr6	19837845	19837845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcgctgcctggccgagCacggccacagcctgggtggc	4	5	16	16	4	0	0	0	0	0	0	0	1	0	0	4	4	4	3	4	4	0	0	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.91C>A	p.His31Asn	p.H31N	ENST00000378700	1/3	29	24	5	23	23	0	strelka-varscan-mutect	ID4,missense_variant,p.His31Asn,ENST00000378700,NM_001546.3;RP4-625H18.2,intron_variant,,ENST00000432171,;	A	ENST00000378700	Transcript	missense_variant	460/2344	91/486	31/161	H/N	Cac/Aac		1		1	ID4	HGNC	HGNC:5363	protein_coding	YES	CCDS4544.1	ENSP00000367972	P47928		UPI000012D193	NM_001546.3	deleterious(0.03)		1/3		hmmpanther:PTHR11723,hmmpanther:PTHR11723:SF6																	MODERATE	1	SNV	1			1										PASS		rs1374749619	.												A	3	1	21	19837845	19837845	C	A	1	0	0	0	0	1	0	0	0	7392	710	25	2		2	ID4	6	19837845	Missense_Mutation	SNP	C	C3L-00913_TP	12257512	19837845	150968134	74	7310											
OR10C1	0	.	GRCh38	chr6	29440280	29440280	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacctccttactggccggCgccacatctctcgctctgga	6	9	8	18	3	2	0	0	0	2	0	5	1	3	1	5	3	1	1	5	3	1	1	rs11755182		C3L-00913_TP	C3L-00913_NB	C	C																c.265C>G	p.Arg89Gly	p.R89G	ENST00000444197	1/1	353	295	58	258	258	0	strelka-varscan	OR10C1,missense_variant,p.Arg89Gly,ENST00000444197,NM_013941.3;OR10C1,missense_variant,p.Arg91Gly,ENST00000622521,;OR11A1,intron_variant,,ENST00000377149,;	G	ENST00000444197	Transcript	missense_variant	975/1649	265/939	89/312	R/G	Cgc/Ggc	rs11755182	1		1	OR10C1	HGNC	HGNC:8165	protein_coding	YES	CCDS34364.1	ENSP00000419119	Q96KK4	A0A126GV80	UPI000014068E	NM_013941.3	tolerated(0.09)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF191,Superfamily_domains:SSF81321												19833159					MODERATE	1	SNV				1										PASS		.	.												G	3	3	21	29440280	29440280	C	G	1	0	0	0	0	1	0	0	0	10973	768	27	4		4	OR10C1	6	29440280	Missense_Mutation	SNP	C	C3L-00913_TP	9602435	29440280	141365699	75	7311											
TREML4	0	.	GRCh38	chr6	41229568	41229568	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctggctcccaacaagcAcaggtaggttggaggcctcg	8	8	12	13	1	0	0	0	0	0	0	3	1	2	1	3	5	2	4	3	5	3	3	novel		C3L-00913_TP	C3L-00913_NB	A	A																c.442A>T	p.Thr148Ser	p.T148S	ENST00000341495	3/6	354	320	34	244	243	1	strelka-varscan	TREML4,missense_variant,p.Thr148Ser,ENST00000341495,NM_198153.2;TREML4,missense_variant,p.Thr148Ser,ENST00000448827,;TREML4,missense_variant,p.Thr47Ser,ENST00000461240,;	T	ENST00000341495	Transcript	missense_variant	546/2070	442/603	148/200	T/S	Aca/Tca		1		1	TREML4	HGNC	HGNC:30807	protein_coding	YES	CCDS34446.1	ENSP00000342570	Q6UXN2		UPI00001D696F	NM_198153.2	tolerated(0.17)		3/6		hmmpanther:PTHR16423,hmmpanther:PTHR16423:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	41229568	41229568	A	T	1	0	0	0	0	1	0	0	0	16963	173	6	4		4	TREML4	6	41229568	Missense_Mutation	SNP	A	C3L-00913_TP	11789288	41229568	129576411	76	7312											
TCTE1	0	.	GRCh38	chr6	44286252	44286252	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgtggaccctgcgcacgtaAttccggcagagcggcagcag	9	5	14	13	5	0	1	0	0	0	1	1	2	1	2	2	3	3	5	2	3	1	2	novel		C3L-00913_TP	C3L-00913_NB	A	A																c.558T>A	p.Asn186Lys	p.N186K	ENST00000371505	3/5	224	192	32	197	196	1	strelka-varscan	TCTE1,missense_variant,p.Asn186Lys,ENST00000371505,NM_182539.3;TCTE1,missense_variant,p.Asn33Lys,ENST00000371504,;TMEM151B,intron_variant,,ENST00000438774,;RP11-444E17.6,intron_variant,,ENST00000505802,;	T	ENST00000371505	Transcript	missense_variant	681/3067	558/1506	186/501	N/K	aaT/aaA		1		-1	TCTE1	HGNC	HGNC:11693	protein_coding	YES	CCDS4910.1	ENSP00000360560	Q5JU00		UPI0000160BC0	NM_182539.3	tolerated(0.28)		3/5		hmmpanther:PTHR24107:SF2,hmmpanther:PTHR24107																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	44286252	44286252	A	T	1	0	0	0	0	1	0	0	0	16125	98	4	4		4	TCTE1	6	44286252	Missense_Mutation	SNP	A	C3L-00913_TP	3056684	44286252	126519727	77	7313											
PKHD1	0	.	GRCh38	chr6	52053196	52053196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgccggagggggctggaGatccccgaagcaacgcacac	9	5	15	12	3	0	1	0	0	0	1	1	4	1	2	3	4	3	4	3	4	2	1	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.2020C>T	p.Leu674Phe	p.L674F	ENST00000371117	21/67	306	266	40	227	227	0	strelka-varscan	PKHD1,missense_variant,p.Leu674Phe,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Leu674Phe,ENST00000340994,NM_170724.2;	A	ENST00000371117	Transcript	missense_variant	2296/16282	2020/12225	674/4074	L/F	Ctc/Ttc		1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3	deleterious(0.02)		21/67																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	52053196	52053196	G	A	1	0	0	0	0	1	0	0	0	12067	942	33	3		3	PKHD1	6	52053196	Missense_Mutation	SNP	G	C3L-00913_TP	7766944	52053196	118752783	78	7314											
KLHL31	0	.	GRCh38	chr6	53652178	53652178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcggctgccactgattggtgGagggcacgtagcactccagc	7	8	14	12	2	0	1	0	1	0	0	2	2	1	2	2	4	3	4	2	4	1	2	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1325C>T	p.Ser442Phe	p.S442F	ENST00000370905	3/3	153	132	21	140	139	1	strelka-varscan	KLHL31,missense_variant,p.Ser442Phe,ENST00000370905,NM_001003760.4;KLHL31,missense_variant,p.Ser442Phe,ENST00000407079,;	A	ENST00000370905	Transcript	missense_variant	1466/5743	1325/1905	442/634	S/F	tCc/tTc		1		-1	KLHL31	HGNC	HGNC:21353	protein_coding	YES	CCDS34478.1	ENSP00000359942	Q9H511		UPI000006D624	NM_001003760.4	deleterious(0.01)		3/3		hmmpanther:PTHR24412:SF247,hmmpanther:PTHR24412,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,Gene3D:1k3iA02,SMART_domains:SM00612,Superfamily_domains:0052715																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	53652178	53652178	G	A	1	0	0	0	0	1	0	0	0	8250	1174	41	3		3	KLHL31	6	53652178	Missense_Mutation	SNP	G	C3L-00913_TP	1598982	53652178	117153801	79	7315											
ADGRB3	0	.	GRCh38	chr6	69233315	69233315	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctttgggaacgtggtccAcccagggatgtaaaactgtg	10	10	13	8	1	1	0	0	0	1	0	2	2	2	2	2	3	2	1	2	3	3	2	novel		C3L-00913_TP	C3L-00913_NB	A	A																c.2506A>T	p.Thr836Ser	p.T836S	ENST00000370598	18/32	222	197	25	151	151	0	strelka-varscan	ADGRB3,missense_variant,p.Thr836Ser,ENST00000370598,NM_001704.2;ADGRB3,missense_variant,p.Thr836Ser,ENST00000546190,;ADGRB3,missense_variant,p.Thr42Ser,ENST00000238918,;ADGRB3,missense_variant,p.Thr20Ser,ENST00000603207,;ADGRB3,5_prime_UTR_variant,,ENST00000604969,;	T	ENST00000370598	Transcript	missense_variant	3327/6010	2506/4569	836/1522	T/S	Acc/Tcc		1		1	ADGRB3	HGNC	HGNC:945	protein_coding	YES	CCDS4968.1	ENSP00000359630	O60242		UPI00001AE6A9	NM_001704.2	tolerated(0.25)		18/32		PROSITE_profiles:PS50221,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF40,Pfam_domain:PF01825,SMART_domains:SM00303																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	69233315	69233315	A	T	1	0	0	0	0	1	0	0	0	357	159	6	4		4	ADGRB3	6	69233315	Missense_Mutation	SNP	A	C3L-00913_TP	15581137	69233315	101572664	80	7316											
RIMS1	0	.	GRCh38	chr6	72292002	72292002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcagcagtcgcaggggaaGacagctcccacaagtgccag	11	5	13	12	1	1	1	1	0	0	1	3	2	2	2	2	2	3	4	2	2	2	1	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.3806G>A	p.Arg1269Lys	p.R1269K	ENST00000521978	26/34	216	203	13	160	159	1	strelka-varscan	RIMS1,missense_variant,p.Arg1118Lys,ENST00000264839,;RIMS1,missense_variant,p.Arg1269Lys,ENST00000521978,NM_014989.5;RIMS1,missense_variant,p.Arg1092Lys,ENST00000491071,;RIMS1,missense_variant,p.Arg1091Lys,ENST00000520567,;RIMS1,missense_variant,p.Arg1061Lys,ENST00000517960,;RIMS1,missense_variant,p.Arg1120Lys,ENST00000518273,;RIMS1,missense_variant,p.Arg1040Lys,ENST00000522291,;RIMS1,missense_variant,p.Arg589Lys,ENST00000401910,NM_001168407.1;RIMS1,missense_variant,p.Arg615Lys,ENST00000517433,;RIMS1,missense_variant,p.Arg566Lys,ENST00000523963,NM_001168408.1;RIMS1,missense_variant,p.Arg575Lys,ENST00000517827,NM_001168410.1;RIMS1,missense_variant,p.Arg509Lys,ENST00000425662,NM_001168409.1;RIMS1,missense_variant,p.Arg434Lys,ENST00000453976,;RIMS1,missense_variant,p.Arg177Lys,ENST00000522211,;RIMS1,missense_variant,p.Arg317Lys,ENST00000370420,;RIMS1,non_coding_transcript_exon_variant,,ENST00000463023,;	A	ENST00000521978	Transcript	missense_variant	3806/5079	3806/5079	1269/1692	R/K	aGa/aAa		1		1	RIMS1	HGNC	HGNC:17282	protein_coding	YES	CCDS47449.1	ENSP00000428417	Q86UR5		UPI00001908FB	NM_014989.5	deleterious(0)		26/34		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	72292002	72292002	G	A	1	0	0	0	0	1	0	0	0	13542	942	33	3		3	RIMS1	6	72292002	Missense_Mutation	SNP	G	C3L-00913_TP	3058687	72292002	98513977	81	7317											
BCKDHB	0	.	GRCh38	chr6	80129181	80129181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatttggtgaagatgttGcctttggtggagtctttaga	9	17	12	3	0	1	3	0	1	1	2	1	4	1	4	1	3	1	1	1	3	4	7	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.295G>T	p.Ala99Ser	p.A99S	ENST00000320393	3/10	313	277	36	228	228	0	strelka-varscan	BCKDHB,missense_variant,p.Ala99Ser,ENST00000320393,NM_001318975.1,NM_183050.2;BCKDHB,missense_variant,p.Ala99Ser,ENST00000356489,NM_000056.3;BCKDHB,missense_variant,p.Ala99Ser,ENST00000369760,;BCKDHB,non_coding_transcript_exon_variant,,ENST00000486968,;	T	ENST00000320393	Transcript	missense_variant	342/3692	295/1179	99/392	A/S	Gcc/Tcc		1		1	BCKDHB	HGNC	HGNC:987	protein_coding	YES	CCDS4994.1	ENSP00000318351	P21953	A0A140VKB3	UPI0000001C97	NM_001318975.1,NM_183050.2	tolerated(0.1)		3/10		Gene3D:3.40.50.970,Pfam_domain:PF02779,hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF21,SMART_domains:SM00861,Superfamily_domains:SSF52518																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	80129181	80129181	G	T	1	0	0	0	0	1	0	0	0	1507	1319	46	2		2	BCKDHB	6	80129181	Missense_Mutation	SNP	G	C3L-00913_TP	7837179	80129181	90676798	82	7318											
ME1	0	.	GRCh38	chr6	83227448	83227448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catatctttgagaatttgttCtgagaatgcaccaccaattg	12	14	7	8	0	2	2	0	2	2	2	2	4	2	2	2	0	1	2	2	0	4	5	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1162G>A	p.Glu388Lys	p.E388K	ENST00000369705	11/14	129	114	15	88	88	0	strelka-varscan	ME1,missense_variant,p.Glu388Lys,ENST00000369705,NM_002395.5;	T	ENST00000369705	Transcript	missense_variant	1279/3371	1162/1719	388/572	E/K	Gaa/Aaa		1		-1	ME1	HGNC	HGNC:6983	protein_coding	YES	CCDS34492.1	ENSP00000358719	P48163		UPI000000127E	NM_002395.5	tolerated(0.65)		11/14		Gene3D:3.40.50.720,Pfam_domain:PF03949,PIRSF_domain:PIRSF000106,hmmpanther:PTHR23406,hmmpanther:PTHR23406:SF17,SMART_domains:SM00919,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	83227448	83227448	C	T	1	0	0	0	0	1	0	0	0	9356	922	32	3		3	ME1	6	83227448	Missense_Mutation	SNP	C	C3L-00913_TP	3098267	83227448	87578531	83	7319											
ORC3	0	.	GRCh38	chr6	87616366	87616366	+	Frame_Shift_Del	DEL	T	T	-																															aaatgaaaaagtattacaggTtctgaccaacatctttttgt																								novel		C3L-00913_TP	C3L-00913_NB	T	T																c.927delT	p.Leu310Ter	p.L310*	ENST00000257789	9/20	222	202	20	153	153	0	sindel-varindel-pindel	ORC3,frameshift_variant,p.Leu310Ter,ENST00000392844,NM_012381.3;ORC3,frameshift_variant,p.Leu310Ter,ENST00000257789,NM_181837.2;ORC3,frameshift_variant,p.Leu167Ter,ENST00000546266,NM_001197259.1;	-	ENST00000257789	Transcript	frameshift_variant	960/2501	926/2139	309/712	V/X	gTt/gt		1		1	ORC3	HGNC	HGNC:8489	protein_coding	YES	CCDS5012.1	ENSP00000257789	Q9UBD5		UPI00001B216A	NM_181837.2			9/20		Pfam_domain:PF07034,hmmpanther:PTHR12748,hmmpanther:PTHR12748:SF0																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	21	87616366	87616366	T	-	1	0	1	0	1	0	0	0	0	11329	1725	60	0		0	ORC3	6	87616366	Frame_Shift_Del	DEL	T	C3L-00913_TP	4388918	87616366	83189613	84	7320											
REV3L	0	.	GRCh38	chr6	111365281	111365281	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctttgcttgtgttaacAgtactcttctaagagtgtca	9	17	7	8	0	3	1	1	0	2	1	3	1	3	1	1	0	4	3	1	0	4	7	novel		C3L-00913_TP	C3L-00913_NB	A	A																c.6737T>G	p.Leu2246Arg	p.L2246R	ENST00000358835	16/33	278	259	19	247	247	0	strelka-varscan-mutect	REV3L,missense_variant,p.Leu2168Arg,ENST00000435970,NM_001286431.1,NM_001286432.1;REV3L,missense_variant,p.Leu2246Arg,ENST00000358835,NM_002912.4;REV3L,missense_variant,p.Leu2246Arg,ENST00000368802,;REV3L,missense_variant,p.Leu2246Arg,ENST00000368805,;REV3L-IT1,upstream_gene_variant,,ENST00000411895,;REV3L,missense_variant,p.Leu103Arg,ENST00000413831,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,;	C	ENST00000358835	Transcript	missense_variant	7195/10815	6737/9393	2246/3130	L/R	cTg/cGg		1		-1	REV3L	HGNC	HGNC:9968	protein_coding	YES	CCDS5091.2	ENSP00000351697	O60673		UPI0000140023	NM_002912.4	deleterious(0)		16/33																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	21	111365281	111365281	A	C	1	0	0	0	0	1	0	0	0	13411	188	7	5		5	REV3L	6	111365281	Missense_Mutation	SNP	A	C3L-00913_TP	23748915	111365281	59440698	85	7321											
HIVEP2	0	.	GRCh38	chr6	142760051	142760051	+	Frame_Shift_Del	DEL	C	C	-																															ctcatgggtgacagatctctCctaggtgataaatgtctcct																								novel		C3L-00913_TP	C3L-00913_NB	C	C																c.6237delG	p.Arg2080GlufsTer6	p.R2080Efs*6	ENST00000367603	9/10	215	193	22	199	199	0	sindel-varindel-pindel	HIVEP2,frameshift_variant,p.Arg2080GlufsTer6,ENST00000367603,NM_006734.3;HIVEP2,frameshift_variant,p.Arg2080GlufsTer6,ENST00000367604,;HIVEP2,frameshift_variant,p.Arg2080GlufsTer6,ENST00000012134,;	-	ENST00000367603	Transcript	frameshift_variant	6980/9723	6237/7341	2079/2446	R/X	agG/ag		1		-1	HIVEP2	HGNC	HGNC:4921	protein_coding	YES	CCDS43510.1	ENSP00000356575	P31629		UPI00004708DD	NM_006734.3			9/10		hmmpanther:PTHR23233:SF53,hmmpanther:PTHR23233																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	21	142760051	142760051	C	-	1	0	1	0	1	0	0	0	0	7076	854	30	0		0	HIVEP2	6	142760051	Frame_Shift_Del	DEL	C	C3L-00913_TP	31394770	142760051	28045928	86	7322											
SYNE1	0	.	GRCh38	chr6	152466051	152466051	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtcacctcatattgttCaaagaacttgctattttcta	11	17	5	8	0	4	1	3	0	1	1	4	1	4	1	1	0	2	3	1	0	6	9	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1660G>T	p.Glu554Ter	p.E554*	ENST00000367255	17/146	269	239	30	157	157	0	strelka-varscan-mutect	SYNE1,stop_gained,p.Glu554Ter,ENST00000367255,NM_182961.3;SYNE1,stop_gained,p.Glu561Ter,ENST00000423061,NM_033071.3;SYNE1,stop_gained,p.Glu544Ter,ENST00000341594,;SYNE1,stop_gained,p.Glu544Ter,ENST00000367248,;SYNE1,stop_gained,p.Glu554Ter,ENST00000367253,;SYNE1,stop_gained,p.Glu554Ter,ENST00000413186,;SYNE1,stop_gained,p.Glu537Ter,ENST00000537750,;SYNE1,stop_gained,p.Glu554Ter,ENST00000466159,;SYNE1,stop_gained,p.Glu121Ter,ENST00000495090,;SYNE1,non_coding_transcript_exon_variant,,ENST00000535896,;SYNE1,non_coding_transcript_exon_variant,,ENST00000481502,;SYNE1,upstream_gene_variant,,ENST00000498751,;SYNE1,3_prime_UTR_variant,,ENST00000474655,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;SYNE1,non_coding_transcript_exon_variant,,ENST00000468937,;	A	ENST00000367255	Transcript	stop_gained	2262/27748	1660/26394	554/8797	E/*	Gaa/Taa		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			17/146		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	21	152466051	152466051	C	A	1	0	0	0	0	0	1	0	0	15837	835	29	2		2	SYNE1	6	152466051	Nonsense_Mutation	SNP	C	C3L-00913_TP	9706000	152466051	18339928	87	7323											
AGMO	0	.	GRCh38	chr7	15560270	15560270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatgaaaaatggagttGcctggaaaggaagttgcaga	18	7	13	3	0	0	3	0	1	0	2	0	6	0	6	1	3	2	3	1	3	6	2			C3L-00913_TP	C3L-00913_NB	G	G																c.128C>A	p.Ala43Glu	p.A43E	ENST00000342526	2/13	123	111	12	100	99	1	strelka-varscan-mutect	AGMO,missense_variant,p.Ala43Glu,ENST00000342526,NM_001004320.1;	T	ENST00000342526	Transcript	missense_variant,splice_region_variant	298/2475	128/1338	43/445	A/E	gCa/gAa	COSM5612440	1		-1	AGMO	HGNC	HGNC:33784	protein_coding	YES	CCDS34604.1	ENSP00000341662	Q6ZNB7	X5D773	UPI0000050343	NM_001004320.1	deleterious(0)		2/13		hmmpanther:PTHR21624,hmmpanther:PTHR21624:SF1											1						MODERATE	1	SNV	1		1	1										PASS		rs1286930315	.												T	3	4	21	15560270	15560270	G	T	1	0	0	0	0	1	0	0	0	463	1333	46	2		2	AGMO	7	15560270	Missense_Mutation	SNP	G	C3L-00913_TP		15560270	143785703	88	7324											
DNAH11	0	.	GRCh38	chr7	21681554	21681554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattccttctagatttctcaGctgaatacactgattacact	11	15	5	10	0	2	3	1	2	2	1	4	4	3	3	1	0	3	1	1	0	4	6	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.5337G>T	p.Gln1779His	p.Q1779H	ENST00000409508	31/82	271	248	23	227	227	0	strelka-varscan-mutect	DNAH11,missense_variant,p.Gln1779His,ENST00000409508,NM_001277115.1;DNAH11,missense_variant,p.Gln1784His,ENST00000328843,;DNAH11,missense_variant,p.Gln1784His,ENST00000620169,;	T	ENST00000409508	Transcript	missense_variant	5368/14167	5337/13551	1779/4516	Q/H	caG/caT		1		1	DNAH11	HGNC	HGNC:2942	protein_coding	YES	CCDS64602.1	ENSP00000475939	Q96DT5		UPI0002B8CE70	NM_001277115.1	deleterious(0)		31/82		hmmpanther:PTHR10676:SF263,hmmpanther:PTHR10676																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	21	21681554	21681554	G	T	1	0	0	0	0	1	0	0	0	4413	962	34	2		2	DNAH11	7	21681554	Missense_Mutation	SNP	G	C3L-00913_TP	6121284	21681554	137664419	89	7325											
CREB5	0	.	GRCh38	chr7	28570503	28570503	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcagtccagctctgtcAtcactcaggcaccttccacc	7	9	6	19	1	5	0	4	0	1	0	7	0	7	0	5	1	1	2	5	1	0	1			C3L-00913_TP	C3L-00913_NB	A	A																c.430A>T	p.Ile144Phe	p.I144F	ENST00000357727	5/11	148	127	21	105	105	0	strelka-varscan-mutect	CREB5,missense_variant,p.Ile144Phe,ENST00000357727,NM_182898.3;CREB5,missense_variant,p.Ile137Phe,ENST00000396300,NM_004904.3;CREB5,missense_variant,p.Ile111Phe,ENST00000396299,NM_182899.4;CREB5,missense_variant,p.Ile111Phe,ENST00000409603,;CREB5,downstream_gene_variant,,ENST00000424599,;CREB5,non_coding_transcript_exon_variant,,ENST00000461921,;	T	ENST00000357727	Transcript	missense_variant	820/8532	430/1527	144/508	I/F	Atc/Ttc	COSM131375	1		1	CREB5	HGNC	HGNC:16844	protein_coding	YES	CCDS5417.1	ENSP00000350359	Q02930		UPI0000457534	NM_182898.3	deleterious(0)		5/11		PIRSF_domain:PIRSF003153,hmmpanther:PTHR19304,hmmpanther:PTHR19304:SF8											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	21	28570503	28570503	A	T	1	0	0	0	0	1	0	0	0	3660	217	8	4		4	CREB5	7	28570503	Missense_Mutation	SNP	A	C3L-00913_TP	6888949	28570503	130775470	90	7326											
AEBP1	0	.	GRCh38	chr7	44106676	44106676	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagccacccaaggccacCaagaagcccaaggagaagcc	16	0	11	14	0	0	3	0	0	0	3	0	5	0	3	6	2	3	0	6	2	6	0	rs200224104		C3L-00913_TP	C3L-00913_NB	C	C																c.384C>A	p.=	p.T128T	ENST00000223357	2/21	557	515	42	376	376	0	varscan-mutect	AEBP1,synonymous_variant,p.=,ENST00000223357,NM_001129.4;AEBP1,synonymous_variant,p.=,ENST00000455443,;AEBP1,synonymous_variant,p.=,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000450684,;AEBP1,upstream_gene_variant,,ENST00000582839,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000413907,;AEBP1,upstream_gene_variant,,ENST00000431035,;AEBP1,upstream_gene_variant,,ENST00000453052,;AEBP1,upstream_gene_variant,,ENST00000434445,;	A	ENST00000223357	Transcript	synonymous_variant	689/4081	384/3477	128/1158	T	acC/acA	rs200224104	1		1	AEBP1	HGNC	HGNC:303	protein_coding	YES	CCDS5476.1	ENSP00000223357	Q8IUX7		UPI00000746E2	NM_001129.4			2/21		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs200224104	.												A	2	1	21	44106676	44106676	C	A	1	0	0	0	0	0	0	0	1	424	581	21	2		2	AEBP1	7	44106676	Silent	SNP	C	C3L-00913_TP	15536173	44106676	115239297	91	7327											
EGFR	0	.	GRCh38	chr7	55181340	55181340	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacccccacgtgtgccgcctGctgggcatctgcctcacctc	5	8	9	19	2	2	0	1	0	1	0	3	0	2	0	6	1	4	2	6	1	1	0	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.2331G>T	p.=	p.L777L	ENST00000275493	20/28	327	285	42	222	222	0	strelka-varscan-mutect	EGFR,synonymous_variant,p.=,ENST00000275493,NM_005228.3;EGFR,synonymous_variant,p.=,ENST00000454757,;EGFR,synonymous_variant,p.=,ENST00000455089,;EGFR-AS1,non_coding_transcript_exon_variant,,ENST00000442411,;	T	ENST00000275493	Transcript	synonymous_variant	2508/9821	2331/3633	777/1210	L	ctG/ctT		1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			20/28		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		rs1210093278	.												T	2	4	21	55181340	55181340	G	T	1	0	0	0	0	0	0	0	1	4803	1306	46	2		2	EGFR	7	55181340	Silent	SNP	G	C3L-00913_TP	11074664	55181340	104164633	92	7328											
CLIP2	0	.	GRCh38	chr7	74356553	74356553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcactgacccacagtcccaGcagttcctccatcagctccg	9	7	7	18	1	1	1	1	1	0	0	5	1	5	1	5	0	3	4	5	0	0	1	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.947G>T	p.Ser316Ile	p.S316I	ENST00000223398	5/17	625	553	72	409	408	1	strelka-varscan-mutect	CLIP2,missense_variant,p.Ser316Ile,ENST00000223398,NM_003388.4;CLIP2,missense_variant,p.Ser316Ile,ENST00000361545,NM_032421.2;CLIP2,missense_variant,p.Ser316Ile,ENST00000395060,;	T	ENST00000223398	Transcript	missense_variant	1274/5563	947/3141	316/1046	S/I	aGc/aTc		1		1	CLIP2	HGNC	HGNC:2586	protein_coding	YES	CCDS5569.1	ENSP00000223398	Q9UDT6		UPI000007061E	NM_003388.4	deleterious(0)		5/17		hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF10,Low_complexity_(Seg):seg,Superfamily_domains:SSF74924																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	21	74356553	74356553	G	T	1	0	0	0	0	1	0	0	0	3302	971	34	2		2	CLIP2	7	74356553	Missense_Mutation	SNP	G	C3L-00913_TP	19175213	74356553	84989420	93	7329											
PCLO	0	.	GRCh38	chr7	82847148	82847148	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaactcacagtcttacaCatatttctgcttccccactt	12	13	3	13	0	3	0	1	0	2	0	4	1	4	0	2	0	3	1	2	0	4	5	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.13754G>T	p.Cys4585Phe	p.C4585F	ENST00000333891	11/25	209	184	25	136	136	0	strelka-varscan-mutect	PCLO,missense_variant,p.Cys4585Phe,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Cys4585Phe,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Val18Leu,ENST00000618073,;PCLO,splice_region_variant,,ENST00000426442,;PCLO,3_prime_UTR_variant,,ENST00000413807,;PCLO,3_prime_UTR_variant,,ENST00000456006,;	A	ENST00000333891	Transcript	missense_variant	14092/20329	13754/15429	4585/5142	C/F	tGt/tTt		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	deleterious(0)		11/25		PROSITE_profiles:PS50106,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	21	82847148	82847148	C	A	1	0	0	0	0	1	0	0	0	11671	492	17	2		2	PCLO	7	82847148	Missense_Mutation	SNP	C	C3L-00913_TP	8490595	82847148	76498825	94	7330											
SMURF1	0	.	GRCh38	chr7	99038482	99038482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgcccgaaggcgttgtgttCcacgcagaaggtgtggtcca	7	8	14	12	4	0	1	0	0	0	1	2	2	2	1	4	3	0	3	4	3	2	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1672G>A	p.Glu558Lys	p.E558K	ENST00000361125	15/19	262	246	16	220	220	0	strelka-varscan-mutect	SMURF1,missense_variant,p.Glu558Lys,ENST00000361125,NM_020429.2;SMURF1,missense_variant,p.Glu532Lys,ENST00000361368,NM_001199847.1,NM_181349.2;AC004893.11,intron_variant,,ENST00000468960,;AC004893.11,downstream_gene_variant,,ENST00000360902,;	T	ENST00000361125	Transcript	missense_variant	1992/5737	1672/2274	558/757	E/K	Gaa/Aaa		1		-1	SMURF1	HGNC	HGNC:16807	protein_coding	YES	CCDS34690.1	ENSP00000354621	Q9HCE7		UPI00000015C4	NM_020429.2	deleterious(0)		15/19		PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF293,hmmpanther:PTHR11254,Gene3D:1c4zA02,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	99038482	99038482	C	T	1	0	0	0	0	1	0	0	0	15140	864	30	3		3	SMURF1	7	99038482	Missense_Mutation	SNP	C	C3L-00913_TP	16191334	99038482	60307491	95	7331											
MUC17	0	.	GRCh38	chr7	101040523	101040523	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgctgaaggtaccggcaTaccaatctcaactcctagtg	12	9	8	12	1	1	1	1	1	1	0	3	1	2	1	3	2	5	3	3	2	7	3	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.9107T>A	p.Ile3036Lys	p.I3036K	ENST00000306151	3/13	204	184	20	180	180	0	strelka-varscan-mutect	MUC17,missense_variant,p.Ile3036Lys,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ile3036Lys,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	A	ENST00000306151	Transcript	missense_variant	9171/14247	9107/13482	3036/4493	I/K	aTa/aAa		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	deleterious(0.01)		3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	101040523	101040523	T	A	1	0	0	0	0	1	0	0	0	9973	1406	49	4		4	MUC17	7	101040523	Missense_Mutation	SNP	T	C3L-00913_TP	2002041	101040523	58305450	96	7332											
PPP1R3A	0	.	GRCh38	chr7	113878065	113878065	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgttgattaaaatcattggCcctagagatttttccacact	11	16	6	8	0	1	2	1	1	0	1	2	3	2	2	2	1	0	1	2	1	3	7	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.3027G>A	p.=	p.G1009G	ENST00000284601	4/4	619	558	61	440	439	1	strelka-varscan-mutect	PPP1R3A,synonymous_variant,p.=,ENST00000284601,NM_002711.3;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	T	ENST00000284601	Transcript	synonymous_variant	3096/4384	3027/3369	1009/1122	G	ggG/ggA		1		-1	PPP1R3A	HGNC	HGNC:9291	protein_coding	YES	CCDS5759.1	ENSP00000284601	Q16821		UPI000013DDAA	NM_002711.3			4/4		hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	21	113878065	113878065	C	T	1	0	0	0	0	0	0	0	1	12492	726	26	3		3	PPP1R3A	7	113878065	Silent	SNP	C	C3L-00913_TP	12837542	113878065	45467908	97	7333											
AGBL3	0	.	GRCh38	chr7	135034345	135034345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaaaaagaggccaaggctCatcacattggctggcagaga	14	6	12	9	0	2	3	2	1	0	2	2	4	2	3	1	4	0	3	1	4	3	1	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.754C>T	p.His252Tyr	p.H252Y	ENST00000436302	7/17	236	219	17	177	176	1	strelka-varscan-mutect	AGBL3,missense_variant,p.His252Tyr,ENST00000436302,NM_178563.3;AGBL3,missense_variant,p.His252Tyr,ENST00000435976,;AGBL3,missense_variant,p.His252Tyr,ENST00000275763,;	T	ENST00000436302	Transcript	missense_variant	1007/3533	754/2763	252/920	H/Y	Cat/Tat		1		1	AGBL3	HGNC	HGNC:27981	protein_coding	YES	CCDS47718.1	ENSP00000388275	Q8NEM8		UPI000192952B	NM_178563.3	tolerated(0.13)		7/17		hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF23																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	21	135034345	135034345	C	T	1	0	0	0	0	1	0	0	0	453	826	29	3		3	AGBL3	7	135034345	Missense_Mutation	SNP	C	C3L-00913_TP	21156280	135034345	24311628	98	7334											
OR2F2	0	.	GRCh38	chr7	143936012	143936012	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acaacgattttcacttacatCcagccccactctggtccctc	9	11	4	17	1	2	0	1	0	1	0	5	1	4	0	4	1	3	0	4	1	2	3	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.780C>G	p.Ile260Met	p.I260M	ENST00000408955	1/1	320	275	45	223	223	0	strelka-varscan-mutect	OR2F2,missense_variant,p.Ile260Met,ENST00000408955,NM_001004685.1;	G	ENST00000408955	Transcript	missense_variant	847/1114	780/954	260/317	I/M	atC/atG		1		1	OR2F2	HGNC	HGNC:8247	protein_coding	YES	CCDS43666.1	ENSP00000386222	O95006		UPI0000041C25	NM_001004685.1	tolerated(1)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF63,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	21	143936012	143936012	C	G	1	0	0	0	0	1	0	0	0	11075	845	30	4		4	OR2F2	7	143936012	Missense_Mutation	SNP	C	C3L-00913_TP	8901667	143936012	15409961	99	7335											
NOBOX	0	.	GRCh38	chr7	144400233	144400233	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggggggtcacccccacCgtctgggcaatctctcggcg	4	7	14	16	4	3	0	1	0	2	0	5	0	3	0	3	5	0	2	3	5	1	0	rs780163926		C3L-00913_TP	C3L-00913_NB	C	C																c.924G>T	p.=	p.T308T	ENST00000467773	5/10	397	366	31	246	246	0	strelka-varscan-mutect	NOBOX,synonymous_variant,p.=,ENST00000467773,NM_001080413.3;NOBOX,synonymous_variant,p.=,ENST00000483238,;	A	ENST00000467773	Transcript	synonymous_variant	924/2076	924/2076	308/691	T	acG/acT	rs780163926	1		-1	NOBOX	HGNC	HGNC:22448	protein_coding	YES		ENSP00000419457	O60393		UPI00019B220B	NM_001080413.3			5/10		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF282,SMART_domains:SM00389,Superfamily_domains:SSF46689																	LOW	1	SNV	5			1										PASS		rs780163926	.												A	2	1	21	144400233	144400233	C	A	1	0	0	0	0	0	0	0	1	10554	639	23	1		1	NOBOX	7	144400233	Silent	SNP	C	C3L-00913_TP	464221	144400233	14945740	100	7336											
AOC1	0	.	GRCh38	chr7	150856781	150856781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgtgccgtcatcttctttgGtgaccaggagcatcccaatg	7	11	10	13	2	3	1	1	1	2	0	4	2	4	2	4	2	2	1	4	2	1	2	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.311G>A	p.Gly104Asp	p.G104D	ENST00000416793	2/5	359	320	39	265	265	0	strelka-varscan-mutect	AOC1,missense_variant,p.Gly104Asp,ENST00000493429,;AOC1,missense_variant,p.Gly104Asp,ENST00000467291,;AOC1,missense_variant,p.Gly104Asp,ENST00000360937,NM_001091.3;AOC1,missense_variant,p.Gly104Asp,ENST00000416793,NM_001272072.1;AOC1,missense_variant,p.Gly104Asp,ENST00000483043,;AOC1,missense_variant,p.Gly104Asp,ENST00000460213,;AOC1,upstream_gene_variant,,ENST00000480582,;	A	ENST00000416793	Transcript	missense_variant	371/2453	311/2313	104/770	G/D	gGt/gAt		1		1	AOC1	HGNC	HGNC:80	protein_coding	YES	CCDS64797.1	ENSP00000411613	P19801		UPI000020F2D0	NM_001272072.1	deleterious(0)		2/5		hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF3,Gene3D:3.10.450.40,Pfam_domain:PF02727,Superfamily_domains:SSF54416,Prints_domain:PR00766																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	150856781	150856781	G	A	1	0	0	0	0	1	0	0	0	836	1261	44	3		3	AOC1	7	150856781	Missense_Mutation	SNP	G	C3L-00913_TP	6456548	150856781	8489192	101	7337											
ASB10	0	.	GRCh38	chr7	151187619	151187619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggccgagggggctccCaggctgggcgggagtggggc	4	5	23	9	2	0	1	0	1	0	0	1	3	1	2	2	8	0	2	2	8	0	0	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.104G>T	p.Trp35Leu	p.W35L	ENST00000377867	1/6	94	88	6	55	55	0	strelka-mutect	ASB10,missense_variant,p.Trp35Leu,ENST00000377867,NM_080871.3;IQCA1L,downstream_gene_variant,,ENST00000615129,NM_001304419.1;ASB10,upstream_gene_variant,,ENST00000275838,NM_001142460.1;ASB10,upstream_gene_variant,,ENST00000420175,NM_001142459.1;ASB10,missense_variant,p.Trp35Leu,ENST00000415615,;IQCA1L,downstream_gene_variant,,ENST00000611102,;	A	ENST00000377867	Transcript	missense_variant	214/1738	104/1359	35/452	W/L	tGg/tTg		1		-1	ASB10	HGNC	HGNC:17185	protein_coding		CCDS5921.2	ENSP00000367098	Q8WXI3		UPI0000D61D05	NM_080871.3	tolerated(0.63)		1/6																			MODERATE		SNV	2			1										PASS		rs1406872923	.												A	3	1	21	151187619	151187619	C	A	1	0	0	0	0	1	0	0	0	1156	595	21	2		2	ASB10	7	151187619	Missense_Mutation	SNP	C	C3L-00913_TP	330838	151187619	8158354	102	7338											
DLGAP2	0	.	GRCh38	chr8	1678231	1678231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagacacggacgttttaaacGttctaacagcgtcacggccg	11	8	10	12	6	2	1	1	0	1	1	2	2	2	2	1	2	3	2	1	2	3	4			C3L-00913_TP	C3L-00913_NB	G	G																c.2024G>A	p.Arg675His	p.R675H	ENST00000612087	8/11	128	106	22	103	103	0	strelka-varscan-mutect	DLGAP2,missense_variant,p.Arg675His,ENST00000612087,NM_001277161.1;DLGAP2,missense_variant,p.Arg692His,ENST00000520901,;DLGAP2,missense_variant,p.Arg769His,ENST00000637795,;DLGAP2,missense_variant,p.Arg768His,ENST00000421627,;DLGAP2,missense_variant,p.Arg689His,ENST00000637152,NM_004745.4;DLGAP2,missense_variant,p.Arg34His,ENST00000522499,;DLGAP2,upstream_gene_variant,,ENST00000518530,;DLGAP2,upstream_gene_variant,,ENST00000524065,;	A	ENST00000612087	Transcript	missense_variant	2158/10088	2024/2886	675/961	R/H	cGt/cAt	COSM3382174,COSM3382175	1		1	DLGAP2	HGNC	HGNC:2906	protein_coding	YES	CCDS75689.1	ENSP00000484215		H0YBY6	UPI0002B8CE71	NM_001277161.1	deleterious(0.04)		8/11		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3,Pfam_domain:PF03359											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1259369243	.												A	3	1	21	1678231	1678231	G	A	1	0	0	0	0	1	0	0	0	4367	1145	40	1		1	DLGAP2	8	1678231	Missense_Mutation	SNP	G	C3L-00913_TP		1678231	143460405	103	7339											
NRG1	0	.	GRCh38	chr8	32763217	32763217	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctctttttttttcataaGacataaccttatagctgagc	11	17	5	8	0	2	2	1	1	1	1	2	2	2	2	1	0	4	2	1	0	4	8	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.807-1G>T		p.X269_splice	ENST00000539990		122	112	10	144	143	1	varscan-mutect	NRG1,splice_acceptor_variant,,ENST00000539990,NM_001159996.1;NRG1,splice_acceptor_variant,,ENST00000521670,NM_013960.3;NRG1,intron_variant,,ENST00000356819,NM_013957.3;NRG1,intron_variant,,ENST00000523534,;NRG1,intron_variant,,ENST00000287842,NM_013956.3;NRG1,intron_variant,,ENST00000405005,NM_013964.3;NRG1,intron_variant,,ENST00000519301,NM_001160001.1;NRG1,intron_variant,,ENST00000518104,NM_001159995.1,NM_001159999.1;NRG1,downstream_gene_variant,,ENST00000523079,NM_001160008.1,NM_001160004.1;	T	ENST00000539990	Transcript	splice_acceptor_variant	-/2401	807/927	269/308				1		1	NRG1	HGNC	HGNC:7997	protein_coding		CCDS75727.1	ENSP00000439276		F6RJN6	UPI0001A47186	NM_001159996.1				7/8																		HIGH		SNV	2			1										PASS		.	.												T	5	4	21	32763217	32763217	G	T	1	0	0	0	0	0	0	1	0	10705	956	33	2		2	NRG1	8	32763217	Splice_Site	SNP	G	C3L-00913_TP	31084986	32763217	112375419	104	7340											
SNTG1	0	.	GRCh38	chr8	50658592	50658592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tattttcttatcttttaaagGtgaccacctgggactggacg	9	15	9	8	1	2	1	0	1	2	0	2	3	2	3	2	3	0	0	2	3	4	6	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.967G>T	p.Val323Leu	p.V323L	ENST00000522124	15/19	143	127	16	117	117	0	strelka-varscan-mutect	SNTG1,missense_variant,p.Val323Leu,ENST00000522124,NM_018967.3;SNTG1,missense_variant,p.Val323Leu,ENST00000518864,NM_001287813.1;SNTG1,missense_variant,p.Val323Leu,ENST00000517473,NM_001287814.1;SNTG1,missense_variant,p.Val323Leu,ENST00000520825,;SNTG1,missense_variant,p.Val97Leu,ENST00000524004,;	T	ENST00000522124	Transcript	missense_variant,splice_region_variant	1628/3504	967/1554	323/517	V/L	Gtg/Ttg		1		1	SNTG1	HGNC	HGNC:13740	protein_coding	YES	CCDS6147.1	ENSP00000429842	Q9NSN8	A0A024R7Y0	UPI000004A0DD	NM_018967.3	tolerated(0.26)		15/19		Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF2,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	50658592	50658592	G	T	1	0	0	0	0	1	0	0	0	15194	1275	44	2		2	SNTG1	8	50658592	Missense_Mutation	SNP	G	C3L-00913_TP	17895375	50658592	94480044	105	7341											
ST18	0	.	GRCh38	chr8	52166982	52166982	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcttttcaggccttggTgaatctatggagaaattcaa	10	14	8	9	0	4	2	2	1	2	1	5	3	5	2	2	3	0	0	2	3	4	5	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.1074A>G	p.=	p.S358S	ENST00000276480	11/26	81	72	9	61	61	0	strelka-varscan-mutect	ST18,synonymous_variant,p.=,ENST00000276480,NM_014682.2;ST18,synonymous_variant,p.=,ENST00000517580,;ST18,3_prime_UTR_variant,,ENST00000522251,;ST18,3_prime_UTR_variant,,ENST00000521582,;ST18,3_prime_UTR_variant,,ENST00000521824,;	C	ENST00000276480	Transcript	synonymous_variant	1758/6187	1074/3144	358/1047	S	tcA/tcG		1		-1	ST18	HGNC	HGNC:18695	protein_coding	YES	CCDS6149.1	ENSP00000276480	O60284		UPI0000046C30	NM_014682.2			11/26		hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816																	LOW	1	SNV	1			1										PASS		rs1426457295	.												C	2	2	21	52166982	52166982	T	C	1	0	0	0	0	0	0	0	1	15590	1710	59	5		5	ST18	8	52166982	Silent	SNP	T	C3L-00913_TP	1508390	52166982	92971654	106	7342											
ESRP1	0	.	GRCh38	chr8	94662275	94662275	+	Nonsense_Mutation	SNP	T	T	G																															ttaatttaatctcacagattTaaattttgagaagagtagtt																								novel		C3L-00913_TP	C3L-00913_NB	T	T																c.494T>G	p.Leu165Ter	p.L165*	ENST00000433389	5/16	182	146	36	121	121	0	strelka-varscan-mutect	ESRP1,stop_gained,p.Leu165Ter,ENST00000433389,NM_017697.3;ESRP1,stop_gained,p.Leu165Ter,ENST00000358397,NM_001034915.2;ESRP1,stop_gained,p.Leu165Ter,ENST00000423620,NM_001122826.1;ESRP1,stop_gained,p.Leu165Ter,ENST00000454170,NM_001122825.1,NM_001122827.1;ESRP1,stop_gained,p.Leu31Ter,ENST00000519505,;ESRP1,stop_gained,p.Leu24Ter,ENST00000517610,;ESRP1,stop_gained,p.Leu5Ter,ENST00000520385,;ESRP1,intron_variant,,ENST00000522756,;ESRP1,upstream_gene_variant,,ENST00000517556,;	G	ENST00000433389	Transcript	stop_gained	684/3770	494/2046	165/681	L/*	tTa/tGa		1		1	ESRP1	HGNC	HGNC:25966	protein_coding	YES	CCDS47897.1	ENSP00000405738	Q6NXG1		UPI0000210327	NM_017697.3			5/16		hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,Gene3D:3.30.420.10,Superfamily_domains:SSF53098																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	21	94662275	94662275	T	G	1	0	0	0	0	0	1	0	0	5120	1768	61	5		5	ESRP1	8	94662275	Nonsense_Mutation	SNP	T	C3L-00913_TP	42495293	94662275	50476361	107	7343	168	2									
ESRP1	0	.	GRCh38	chr8	94662276	94662276	+	Silent	SNP	A	A	G																															taatttaatctcacagatttAaattttgagaagagtagttc																										C3L-00913_TP	C3L-00913_NB	A	A																c.495A>G	p.=	p.L165L	ENST00000433389	5/16	182	146	36	122	122	0	strelka-varscan-mutect	ESRP1,synonymous_variant,p.=,ENST00000433389,NM_017697.3;ESRP1,synonymous_variant,p.=,ENST00000358397,NM_001034915.2;ESRP1,synonymous_variant,p.=,ENST00000423620,NM_001122826.1;ESRP1,synonymous_variant,p.=,ENST00000454170,NM_001122825.1,NM_001122827.1;ESRP1,synonymous_variant,p.=,ENST00000519505,;ESRP1,synonymous_variant,p.=,ENST00000517610,;ESRP1,synonymous_variant,p.=,ENST00000520385,;ESRP1,intron_variant,,ENST00000522756,;ESRP1,upstream_gene_variant,,ENST00000517556,;	G	ENST00000433389	Transcript	synonymous_variant	685/3770	495/2046	165/681	L	ttA/ttG	COSM3699216,COSM3699217	1		1	ESRP1	HGNC	HGNC:25966	protein_coding	YES	CCDS47897.1	ENSP00000405738	Q6NXG1		UPI0000210327	NM_017697.3			5/16		hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,Gene3D:3.30.420.10,Superfamily_domains:SSF53098											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												G	2	3	21	94662276	94662276	A	G	1	0	0	0	0	0	0	0	1	5120	376	13	5		5	ESRP1	8	94662276	Silent	SNP	A	C3L-00913_TP	1	94662276	50476360	108	7344	168	2									
ZFPM2	0	.	GRCh38	chr8	105801376	105801376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccatgcagactaaagatGcgagctctgacacagagctg	13	6	12	10	1	1	4	0	1	1	3	1	5	1	4	1	1	4	3	1	1	2	1	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1294G>A	p.Ala432Thr	p.A432T	ENST00000407775	8/8	579	545	34	446	446	0	strelka-varscan-mutect	ZFPM2,missense_variant,p.Ala432Thr,ENST00000407775,NM_012082.3;ZFPM2,missense_variant,p.Ala300Thr,ENST00000520492,;ZFPM2,missense_variant,p.Ala300Thr,ENST00000517361,;ZFPM2-AS1,intron_variant,,ENST00000524045,;ZFPM2-AS1,intron_variant,,ENST00000520433,;ZFPM2-AS1,intron_variant,,ENST00000518932,;ZFPM2-AS1,intron_variant,,ENST00000520594,;ZFPM2-AS1,intron_variant,,ENST00000509144,;ZFPM2-AS1,intron_variant,,ENST00000521622,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;ZFPM2-AS1,intron_variant,,ENST00000520078,;	A	ENST00000407775	Transcript	missense_variant	1544/4700	1294/3456	432/1151	A/T	Gcg/Acg		1		1	ZFPM2	HGNC	HGNC:16700	protein_coding	YES	CCDS47908.1	ENSP00000384179	Q8WW38		UPI000057A0B4	NM_012082.3	tolerated(0.56)		8/8		hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	105801376	105801376	G	A	1	0	0	0	0	1	0	0	0	18236	1319	46	3		3	ZFPM2	8	105801376	Missense_Mutation	SNP	G	C3L-00913_TP	11139100	105801376	39337260	109	7345											
CSMD3	0	.	GRCh38	chr8	112291528	112291529	+	Frame_Shift_Ins	INS	-	-	T																															ctgatacattctggtaaaggINStttgtcccattgtccatttg																								novel		C3L-00913_TP	C3L-00913_NB	-	-																c.8955dupA	p.Pro2986ThrfsTer9	p.P2986Tfs*9	ENST00000297405	56/71	347	301	46	274	274	0	sindel-varindel-pindel	CSMD3,frameshift_variant,p.Pro2986ThrfsTer9,ENST00000297405,NM_198123.1;CSMD3,frameshift_variant,p.Pro2946ThrfsTer9,ENST00000343508,NM_198124.1;CSMD3,frameshift_variant,p.Pro2817ThrfsTer9,ENST00000455883,NM_052900.2;CSMD3,frameshift_variant,p.Pro2256ThrfsTer9,ENST00000339701,;	T	ENST00000297405	Transcript	frameshift_variant	9200-9201/13212	8955-8956/11124	2985-2986/3707	-/X	-/A		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			56/71		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	21	112291528	112291528	-	T	1	0	1	1	0	0	0	0	0	3747	1261	44	0		0	CSMD3	8	112291528	Frame_Shift_Ins	INS	-	C3L-00913_TP	6490152	112291528	32847108	110	7346											
CSMD3	0	.	GRCh38	chr8	112921720	112921720	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgtaggacataatcttCatcacaagagaactgcacag	14	8	8	11	0	3	1	2	0	1	1	3	3	3	2	1	1	2	2	1	1	4	3			C3L-00913_TP	C3L-00913_NB	C	C																c.1540G>T	p.Glu514Ter	p.E514*	ENST00000297405	10/71	563	472	91	464	463	1	strelka-varscan-mutect	CSMD3,stop_gained,p.Glu514Ter,ENST00000297405,NM_198123.1;CSMD3,stop_gained,p.Glu474Ter,ENST00000343508,NM_198124.1;CSMD3,stop_gained,p.Glu410Ter,ENST00000455883,NM_052900.2;	A	ENST00000297405	Transcript	stop_gained	1785/13212	1540/11124	514/3707	E/*	Gaa/Taa	COSM3164151,COSM3164152	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			10/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												A	4	1	21	112921720	112921720	C	A	1	0	0	0	0	0	1	0	0	3747	835	29	2		2	CSMD3	8	112921720	Nonsense_Mutation	SNP	C	C3L-00913_TP	630192	112921720	32216916	111	7347											
KIAA2026	0	.	GRCh38	chr9	5922239	5922239	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctgttgtgcaaaacagtTgaaggaactaccaggatttg	13	11	11	6	0	1	1	0	1	1	0	1	3	1	3	1	2	4	3	1	2	5	4	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.3757A>G	p.Asn1253Asp	p.N1253D	ENST00000399933	8/8	425	374	51	380	380	0	strelka-varscan-mutect	KIAA2026,missense_variant,p.Asn1253Asp,ENST00000399933,NM_001017969.2;KIAA2026,missense_variant,p.Asn1223Asp,ENST00000381461,;KIAA2026,3_prime_UTR_variant,,ENST00000540714,;KIAA2026,upstream_gene_variant,,ENST00000436015,;	C	ENST00000399933	Transcript	missense_variant	3757/6988	3757/6312	1253/2103	N/D	Aac/Gac		1		-1	KIAA2026	HGNC	HGNC:23378	protein_coding	YES		ENSP00000382815	Q5HYC2		UPI0001533DB0	NM_001017969.2	tolerated(0.17)		8/8		hmmpanther:PTHR31095,hmmpanther:PTHR31095:SF3																	MODERATE	1	SNV	5			1										PASS		rs1327661205	.												C	3	2	21	5922239	5922239	T	C	1	0	0	0	0	1	0	0	0	8134	1812	63	5		5	KIAA2026	9	5922239	Missense_Mutation	SNP	T	C3L-00913_TP		5922239	132472478	112	7348											
SPATA31A6	0	.	GRCh38	chr9	42187767	42187767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaaaagcttcccacggaagGttctgggggtgacttctgag	9	10	14	8	1	2	3	0	3	2	0	3	4	3	4	1	4	1	2	1	4	3	3	rs772274413		C3L-00913_TP	C3L-00913_NB	G	G																c.2065G>T	p.Val689Phe	p.V689F	ENST00000332857	4/4	85	66	19	52	52	0	strelka-varscan-mutect	SPATA31A6,missense_variant,p.Val689Phe,ENST00000332857,NM_001145196.1;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	T	ENST00000332857	Transcript	missense_variant	2094/4209	2065/4032	689/1343	V/F	Gtt/Ttt	rs772274413	1		1	SPATA31A6	HGNC	HGNC:32006	protein_coding	YES	CCDS75837.1	ENSP00000329825	Q5VVP1		UPI0000197F6E	NM_001145196.1	tolerated(0.36)		4/4		hmmpanther:PTHR21859:SF18,hmmpanther:PTHR21859,Pfam_domain:PF14650																	MODERATE	1	SNV	5			1										PASS		rs772274413	.												T	3	4	21	42187767	42187767	G	T	1	0	0	0	0	1	0	0	0	15345	1261	44	2		2	SPATA31A6	9	42187767	Missense_Mutation	SNP	G	C3L-00913_TP	36265528	42187767	96206950	113	7349											
GRIN3A	0	.	GRCh38	chr9	101670401	101670401	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtccagtggagtggccAcatgaaggctccaatgggag	10	8	14	9	0	0	1	0	1	0	0	2	3	2	3	3	4	0	1	3	4	2	1	rs755679939		C3L-00913_TP	C3L-00913_NB	A	A																c.2011T>A	p.Trp671Arg	p.W671R	ENST00000361820	3/9	440	390	50	316	316	0	strelka-varscan-mutect	GRIN3A,missense_variant,p.Trp671Arg,ENST00000361820,NM_133445.2;	T	ENST00000361820	Transcript	missense_variant	2612/7770	2011/3348	671/1115	W/R	Tgg/Agg	rs755679939	1		-1	GRIN3A	HGNC	HGNC:16767	protein_coding	YES	CCDS6758.1	ENSP00000355155	Q8TCU5		UPI0000367661	NM_133445.2	tolerated(0.11)		3/9		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154,Gene3D:3.40.190.10,SMART_domains:SM00079,Superfamily_domains:SSF53850																	MODERATE	1	SNV	1			1										PASS		rs755679939	.												T	3	4	21	101670401	101670401	A	T	1	0	0	0	0	1	0	0	0	6665	159	6	4		4	GRIN3A	9	101670401	Missense_Mutation	SNP	A	C3L-00913_TP	59482634	101670401	36724316	114	7350											
OR13C4	0	.	GRCh38	chr9	104526716	104526716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttcccacagaaaggccatCgcatggcaagtgatgtttgc	10	10	11	10	1	0	2	0	1	0	1	2	2	1	2	2	2	1	4	2	2	2	2	rs75737900		C3L-00913_TP	C3L-00913_NB	C	C																c.494G>A	p.Arg165Gln	p.R165Q	ENST00000277216	1/1	182	162	20	185	185	0	strelka-varscan-mutect	OR13C4,missense_variant,p.Arg165Gln,ENST00000277216,NM_001001919.1;RP11-317C20.9,intron_variant,,ENST00000635678,;	T	ENST00000277216	Transcript	missense_variant	494/957	494/957	165/318	R/Q	cGa/cAa	rs75737900,COSM3432723	1		-1	OR13C4	HGNC	HGNC:14722	protein_coding	YES	CCDS35088.1	ENSP00000277216	Q8NGS5	A0A126GVC9	UPI0000041B46	NM_001001919.1	tolerated(1)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF14,Superfamily_domains:SSF81321											0,1						MODERATE		SNV			0,1	1										PASS		rs75737900	.												T	3	4	21	104526716	104526716	C	T	1	0	0	0	0	1	0	0	0	11012	884	31	1		1	OR13C4	9	104526716	Missense_Mutation	SNP	C	C3L-00913_TP	2856315	104526716	33868001	115	7351											
ASTN2	0	.	GRCh38	chr9	117291393	117291393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggctcctggagagtggggGcggtggcttgggccagctgc	4	7	21	9	1	0	1	0	0	0	1	1	2	1	1	2	7	2	3	2	7	0	1			C3L-00913_TP	C3L-00913_NB	G	G																c.563C>T	p.Ala188Val	p.A188V	ENST00000361209	2/22	330	276	54	198	198	0	strelka-varscan-mutect	ASTN2,missense_variant,p.Ala188Val,ENST00000313400,;ASTN2,missense_variant,p.Ala188Val,ENST00000361209,NM_014010.4;ASTN2,5_prime_UTR_variant,,ENST00000361477,NM_198187.3;	A	ENST00000361209	Transcript	missense_variant	695/4622	563/3867	188/1288	A/V	gCc/gTc	COSM3903569,COSM3903570	1		-1	ASTN2	HGNC	HGNC:17021	protein_coding	YES	CCDS6815.1	ENSP00000354504	O75129		UPI00002116D7	NM_014010.4	tolerated_low_confidence(0.17)		2/22		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF2											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	21	117291393	117291393	G	A	1	0	0	0	0	1	0	0	0	1212	1203	42	3		3	ASTN2	9	117291393	Missense_Mutation	SNP	G	C3L-00913_TP	12764677	117291393	21103324	116	7352											
CNTRL	0	.	GRCh38	chr9	121113706	121113706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacgcaactggaagacaaaGaaaaaaaaataagtgcaggt	22	4	9	6	1	0	2	0	0	0	2	0	3	0	3	0	2	2	2	0	2	8	1	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1327G>A	p.Glu443Lys	p.E443K	ENST00000373855	10/44	122	109	13	81	80	1	strelka-varscan-mutect	CNTRL,missense_variant,p.Glu443Lys,ENST00000373855,;CNTRL,missense_variant,p.Glu443Lys,ENST00000238341,NM_007018.4;CNTRL,missense_variant,p.Glu443Lys,ENST00000373865,;CNTRL,upstream_gene_variant,,ENST00000373850,;CNTRL,downstream_gene_variant,,ENST00000468952,;CNTRL,non_coding_transcript_exon_variant,,ENST00000373851,;	A	ENST00000373855	Transcript	missense_variant	1587/7660	1327/6978	443/2325	E/K	Gaa/Aaa		1		1	CNTRL	HGNC	HGNC:1858	protein_coding	YES	CCDS35118.1	ENSP00000362962	Q7Z7A1		UPI0000211718		deleterious(0.01)		10/44		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	5			1										PASS		rs777925006	.												A	3	1	21	121113706	121113706	G	A	1	0	0	0	0	1	0	0	0	3433	943	33	3		3	CNTRL	9	121113706	Missense_Mutation	SNP	G	C3L-00913_TP	3822313	121113706	17281011	117	7353											
OR1L3	0	.	GRCh38	chr9	122675799	122675799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttatctaagaattctcatcGctgttctcaagattccctca	10	15	4	12	1	4	2	3	0	3	2	8	2	5	2	1	0	0	2	1	0	4	5	rs200264223		C3L-00913_TP	C3L-00913_NB	G	G																c.670G>A	p.Ala224Thr	p.A224T	ENST00000304820	1/1	319	287	32	276	276	0	strelka-varscan-mutect	OR1L3,missense_variant,p.Ala224Thr,ENST00000304820,NM_001005234.1;	A	ENST00000304820	Transcript	missense_variant	670/975	670/975	224/324	A/T	Gct/Act	rs200264223,COSM4709704	1		1	OR1L3	HGNC	HGNC:8215	protein_coding	YES	CCDS35128.1	ENSP00000302863	Q8NH93	A0A126GVD1	UPI000004618D	NM_001005234.1	tolerated(0.48)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF198,SMART_domains:SM01381,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs200264223	.												A	3	1	21	122675799	122675799	G	A	1	0	0	0	0	1	0	0	0	11042	1087	38	1		1	OR1L3	9	122675799	Missense_Mutation	SNP	G	C3L-00913_TP	1562093	122675799	15718918	118	7354											
OR1K1	0	.	GRCh38	chr9	122800245	122800245	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatgtggccagcctcctGggtaatggactcattgtggc	6	13	13	9	0	1	0	1	0	0	0	2	1	2	1	3	4	1	2	3	4	2	4			C3L-00913_TP	C3L-00913_NB	G	G																c.123G>A	p.=	p.L41L	ENST00000277309	1/1	348	316	32	207	207	0	strelka-varscan-mutect	OR1K1,synonymous_variant,p.=,ENST00000277309,NM_080859.1;PDCL,intron_variant,,ENST00000436632,;	A	ENST00000277309	Transcript	synonymous_variant	123/951	123/951	41/316	L	ctG/ctA	COSM3675224	1		1	OR1K1	HGNC	HGNC:8212	protein_coding	YES	CCDS35132.1	ENSP00000277309	Q8NGR3	A0A126GVB9	UPI000004B1FE	NM_080859.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF331,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						LOW	1	SNV			1	1										PASS		.	.												A	2	1	21	122800245	122800245	G	A	1	0	0	0	0	0	0	0	1	11040	1335	47	3		3	OR1K1	9	122800245	Silent	SNP	G	C3L-00913_TP	124446	122800245	15594472	119	7355											
HMCN2	0	.	GRCh38	chr9	130425781	130425781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcctcccctcgttcctacGctgcaaccacagcatccagt	7	8	7	19	3	0	0	0	0	0	0	4	0	3	0	6	1	4	4	6	1	2	2	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.13676G>T	p.Arg4559Leu	p.R4559L	ENST00000624552	90/98	466	422	44	345	345	0	strelka-varscan-mutect	HMCN2,missense_variant,p.Arg4559Leu,ENST00000624552,NM_001291815.1;HMCN2,missense_variant,p.Arg23Leu,ENST00000428715,;HMCN2,upstream_gene_variant,,ENST00000623487,;	T	ENST00000624552	Transcript	missense_variant	13676/15610	13676/15180	4559/5059	R/L	cGc/cTc		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	deleterious(0.01)		90/98		Gene3D:2.40.155.10,Pfam_domain:PF07474,PROSITE_profiles:PS50993,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25,SMART_domains:SM00682,Superfamily_domains:SSF54511																	MODERATE	1	SNV	5			1										PASS		rs926380414	.												T	3	4	21	130425781	130425781	G	T	1	0	0	0	0	1	0	0	0	7112	1087	38	1		1	HMCN2	9	130425781	Missense_Mutation	SNP	G	C3L-00913_TP	7625536	130425781	7968936	120	7356											
GLT6D1	0	.	GRCh38	chr9	135624433	135624433	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgaagaggaagtccacCtcgtcctggatgtgactggc	9	9	13	10	1	0	3	0	2	0	1	3	5	2	5	3	3	1	1	3	3	2	0	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.495G>A	p.=	p.E165E	ENST00000371763	5/5	253	228	25	216	216	0	strelka-varscan-mutect	GLT6D1,synonymous_variant,p.=,ENST00000371763,NM_182974.2;GLT6D1,synonymous_variant,p.=,ENST00000613244,;	T	ENST00000371763	Transcript	synonymous_variant	749/1526	495/831	165/276	E	gaG/gaA		1		-1	GLT6D1	HGNC	HGNC:23671	protein_coding	YES	CCDS43900.1	ENSP00000360829	Q7Z4J2		UPI0000246F68	NM_182974.2			5/5		hmmpanther:PTHR10462:SF27,hmmpanther:PTHR10462,Gene3D:3.90.550.10,Pfam_domain:PF03414,Superfamily_domains:SSF53448																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	21	135624433	135624433	C	T	1	0	0	0	0	0	0	0	1	6345	680	24	3		3	GLT6D1	9	135624433	Silent	SNP	C	C3L-00913_TP	5198652	135624433	2770284	121	7357											
GLT6D1	0	.	GRCh38	chr9	135624647	135624647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttgcggagtgtaggaacGgcctcaggtactcctctgca	8	11	12	10	2	2	0	1	0	1	0	3	2	3	2	2	4	4	3	2	4	4	4	rs753115294		C3L-00913_TP	C3L-00913_NB	G	G																c.281C>A	p.Pro94Gln	p.P94Q	ENST00000371763	5/5	80	71	9	65	65	0	strelka-varscan-mutect	GLT6D1,missense_variant,p.Pro94Gln,ENST00000371763,NM_182974.2;GLT6D1,missense_variant,p.Pro94Gln,ENST00000613244,;	T	ENST00000371763	Transcript	missense_variant	535/1526	281/831	94/276	P/Q	cCg/cAg	rs753115294	1		-1	GLT6D1	HGNC	HGNC:23671	protein_coding	YES	CCDS43900.1	ENSP00000360829	Q7Z4J2		UPI0000246F68	NM_182974.2	tolerated(0.6)		5/5		hmmpanther:PTHR10462:SF27,hmmpanther:PTHR10462,Gene3D:3.90.550.10,Pfam_domain:PF03414,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		rs753115294	.												T	3	4	21	135624647	135624647	G	T	1	0	0	0	0	1	0	0	0	6345	1116	39	1		1	GLT6D1	9	135624647	Missense_Mutation	SNP	G	C3L-00913_TP	214	135624647	2770070	122	7358											
FAM208B	0	.	GRCh38	chr10	5748303	5748303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatttgaaaacagatgaaGgcatttatctgcaggtgaag	14	11	12	4	0	1	5	0	4	1	1	1	5	1	5	0	2	2	2	0	2	5	3	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.4882G>A	p.Gly1628Ser	p.G1628S	ENST00000328090	15/21	434	402	32	276	275	1	strelka-varscan-mutect	FAM208B,missense_variant,p.Gly1628Ser,ENST00000328090,NM_001321784.1,NM_001321783.1,NM_017782.4;RP11-336A10.2,upstream_gene_variant,,ENST00000411512,;	A	ENST00000328090	Transcript	missense_variant	5507/8626	4882/7293	1628/2430	G/S	Ggc/Agc		1		1	FAM208B	HGNC	HGNC:23484	protein_coding	YES	CCDS41485.1	ENSP00000328426	Q5VWN6		UPI00004589BB	NM_001321784.1,NM_001321783.1,NM_017782.4	tolerated(0.21)		15/21		hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	5748303	5748303	G	A	1	0	0	0	0	1	0	0	0	5390	1000	35	3		3	FAM208B	10	5748303	Missense_Mutation	SNP	G	C3L-00913_TP		5748303	128049119	123	7359											
MEIG1	0	.	GRCh38	chr10	14972618	14972618	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgacaaagaagtccacAaagtgaaaatttatgcttac	17	10	8	6	0	0	4	0	3	0	1	1	4	1	4	1	0	2	1	1	0	7	3	novel		C3L-00913_TP	C3L-00913_NB	A	A																c.244A>G	p.Lys82Glu	p.K82E	ENST00000407572	3/3	186	171	15	111	111	0	strelka-varscan-mutect	MEIG1,missense_variant,p.Lys82Glu,ENST00000407572,NM_001080836.2;MEIG1,missense_variant,p.Lys82Glu,ENST00000378240,;MEIG1,splice_region_variant,,ENST00000467536,;MEIG1,non_coding_transcript_exon_variant,,ENST00000496225,;MEIG1,non_coding_transcript_exon_variant,,ENST00000477770,;	G	ENST00000407572	Transcript	missense_variant	392/625	244/267	82/88	K/E	Aaa/Gaa		1		1	MEIG1	HGNC	HGNC:23429	protein_coding	YES	CCDS31151.1	ENSP00000384334	Q5JSS6		UPI000013EEBE	NM_001080836.2	deleterious(0.01)		3/3		PD062760,Pfam_domain:PF15163,hmmpanther:PTHR17008,hmmpanther:PTHR17008:SF1																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	21	14972618	14972618	A	G	1	0	0	0	0	1	0	0	0	9407	131	5	5		5	MEIG1	10	14972618	Missense_Mutation	SNP	A	C3L-00913_TP	9224315	14972618	118824804	124	7360											
GDF10	0	.	GRCh38	chr10	47310103	47310103	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggacatctcccccatCgtcaaggcggcccgccggga	8	4	12	17	4	2	0	1	0	1	0	4	2	2	2	5	4	0	0	5	4	2	0	rs373114581		C3L-00913_TP	C3L-00913_NB	C	C																c.627C>A	p.=	p.I209I	ENST00000580279	2/3	164	149	15	142	141	1	strelka-varscan-mutect	GDF10,synonymous_variant,p.=,ENST00000580279,NM_004962.3;	A	ENST00000580279	Transcript	synonymous_variant	893/2458	627/1437	209/478	I	atC/atA	rs373114581	1		1	GDF10	HGNC	HGNC:4215	protein_coding	YES	CCDS73117.1	ENSP00000464145	P55107		UPI0000126A13	NM_004962.3			2/3		PIRSF_domain:PIRSF037403,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF145																	LOW	1	SNV	1			1										PASS		rs373114581	.												A	2	1	21	47310103	47310103	C	A	1	0	0	0	0	0	0	0	1	6184	874	31	1		1	GDF10	10	47310103	Silent	SNP	C	C3L-00913_TP	32337485	47310103	86487319	125	7361											
GDF10	0	.	GRCh38	chr10	47312715	47312715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaactcccttggggtcCtcttcctggatgagaatcgg	8	11	12	10	1	1	3	0	2	1	2	5	5	4	4	3	4	1	0	3	4	2	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1360C>T	p.Leu454Phe	p.L454F	ENST00000580279	3/3	129	115	14	78	78	0	strelka-varscan-mutect	GDF10,missense_variant,p.Leu454Phe,ENST00000580279,NM_004962.3;	T	ENST00000580279	Transcript	missense_variant	1626/2458	1360/1437	454/478	L/F	Ctc/Ttc		1		1	GDF10	HGNC	HGNC:4215	protein_coding	YES	CCDS73117.1	ENSP00000464145	P55107		UPI0000126A13	NM_004962.3	deleterious(0)		3/3		Gene3D:2.10.90.10,Pfam_domain:PF00019,PIRSF_domain:PIRSF037403,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF145,SMART_domains:SM00204,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	47312715	47312715	C	T	1	0	0	0	0	1	0	0	0	6184	681	24	3		3	GDF10	10	47312715	Missense_Mutation	SNP	C	C3L-00913_TP	2612	47312715	86484707	126	7362											
C10orf71	0	.	GRCh38	chr10	49326481	49326481	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtatgtcaaggtctccatCccgtcctccgagggggcctc	7	9	11	14	2	2	0	1	0	1	0	7	1	5	0	5	3	0	1	5	3	3	1	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.3936C>A	p.=	p.I1312I	ENST00000374144	3/3	209	188	21	171	171	0	strelka-varscan-mutect	C10orf71,synonymous_variant,p.=,ENST00000374144,NM_001135196.1;	A	ENST00000374144	Transcript	synonymous_variant	4224/5230	3936/4308	1312/1435	I	atC/atA		1		1	C10orf71	HGNC	HGNC:26973	protein_coding	YES	CCDS44387.1	ENSP00000363259	Q711Q0		UPI0000161572	NM_001135196.1			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR33775,Pfam_domain:PF15232																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	21	49326481	49326481	C	A	1	0	0	0	0	0	0	0	1	1769	845	30	2		2	C10orf71	10	49326481	Silent	SNP	C	C3L-00913_TP	2013766	49326481	84470941	127	7363											
PCDH15	0	.	GRCh38	chr10	53806885	53806885	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtgtcactgccaacttGtctagtttcttaaagggccc	8	14	8	11	0	4	0	2	0	2	0	4	0	4	0	2	1	2	1	2	1	4	4			C3L-00913_TP	C3L-00913_NB	G	G																c.4740C>G	p.Asp1580Glu	p.D1580E	ENST00000614895	35/35	504	452	52	434	434	0	strelka-varscan-mutect	PCDH15,missense_variant,p.Asp1580Glu,ENST00000614895,;PCDH15,missense_variant,p.Asp1576Glu,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Asp1575Glu,ENST00000414778,;PCDH15,missense_variant,p.Asp1574Glu,ENST00000616114,;PCDH15,missense_variant,p.Asp1581Glu,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Asp315Glu,ENST00000495484,;PCDH15,missense_variant,p.Asp359Glu,ENST00000618301,;PCDH15,downstream_gene_variant,,ENST00000617271,NM_001142770.1;PCDH15,downstream_gene_variant,,ENST00000613657,NM_001142769.1;PCDH15,downstream_gene_variant,,ENST00000395445,;PCDH15,downstream_gene_variant,,ENST00000395438,;PCDH15,downstream_gene_variant,,ENST00000612394,;PCDH15,downstream_gene_variant,,ENST00000409834,;PCDH15,downstream_gene_variant,,ENST00000395446,;PCDH15,downstream_gene_variant,,ENST00000395440,;PCDH15,downstream_gene_variant,,ENST00000395442,;PCDH15,downstream_gene_variant,,ENST00000615043,;PCDH15,downstream_gene_variant,,ENST00000414367,;PCDH15,downstream_gene_variant,,ENST00000476074,;	C	ENST00000614895	Transcript	missense_variant	5135/9249	4740/5046	1580/1681	D/E	gaC/gaG	COSM5667361	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding			ENSP00000478512		A0A087WUA8	UPI0004E4CB60		tolerated_low_confidence(0.25)		35/35													1						MODERATE		SNV	5		1	1										PASS		.	.												C	3	2	21	53806885	53806885	G	C	1	0	0	0	0	1	0	0	0	11598	1368	48	4		4	PCDH15	10	53806885	Missense_Mutation	SNP	G	C3L-00913_TP	4480404	53806885	79990537	128	7364											
JMJD1C	0	.	GRCh38	chr10	63217245	63217245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggtgcgggtgaagagatCatgatgagtaattatgccag	12	10	14	5	1	1	4	1	3	0	1	1	5	1	4	1	2	2	1	1	2	3	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.640G>C	p.Asp214His	p.D214H	ENST00000399262	5/26	260	237	23	199	199	0	strelka-varscan-mutect	JMJD1C,missense_variant,p.Asp214His,ENST00000399262,NM_001318154.1,NM_001322252.1,NM_001322254.1,NM_001322258.1,NM_032776.2;JMJD1C,missense_variant,p.Asp32His,ENST00000542921,NM_001318153.1,NM_001282948.1;JMJD1C,non_coding_transcript_exon_variant,,ENST00000402544,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000489372,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000469152,;JMJD1C,downstream_gene_variant,,ENST00000633035,;TATDN1P1,upstream_gene_variant,,ENST00000414123,;	G	ENST00000399262	Transcript	missense_variant	859/8666	640/7623	214/2540	D/H	Gat/Cat		1		-1	JMJD1C	HGNC	HGNC:12313	protein_coding	YES	CCDS41532.1	ENSP00000382204	Q15652		UPI0000198BEF	NM_001318154.1,NM_001322252.1,NM_001322254.1,NM_001322258.1,NM_032776.2	deleterious(0)		5/26		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	21	63217245	63217245	C	G	1	0	0	0	0	1	0	0	0	7864	826	29	4		4	JMJD1C	10	63217245	Missense_Mutation	SNP	C	C3L-00913_TP	9410360	63217245	70580177	129	7365											
FFAR4	0	.	GRCh38	chr10	93567273	93567273	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtcgtcccgcaacggctcCccggcgccgaccaggtgagc	6	4	14	17	6	0	1	0	1	0	0	3	3	2	1	5	3	2	2	5	3	1	0	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.553C>G	p.Pro185Ala	p.P185A	ENST00000371483	1/4	257	228	29	166	166	0	strelka-varscan-mutect	FFAR4,missense_variant,p.Pro185Ala,ENST00000371483,NM_181745.3;FFAR4,missense_variant,p.Pro185Ala,ENST00000371481,NM_001195755.1;FFAR4,missense_variant,p.Pro185Ala,ENST00000604414,;	G	ENST00000371483	Transcript	missense_variant	609/3653	553/1134	185/377	P/A	Ccc/Gcc		1		1	FFAR4	HGNC	HGNC:19061	protein_coding	YES	CCDS31248.1	ENSP00000360538	Q5NUL3		UPI00001C1EE5	NM_181745.3	tolerated(0.07)		1/4		PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF67,hmmpanther:PTHR24241,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	21	93567273	93567273	C	G	1	0	0	0	0	1	0	0	0	5693	623	22	4		4	FFAR4	10	93567273	Missense_Mutation	SNP	C	C3L-00913_TP	30350028	93567273	40230149	130	7366											
PYROXD2	0	.	GRCh38	chr10	98390638	98390638	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggcatcttcaaaggcctGatgaaggaggagggtgtctt	10	10	14	7	0	3	2	1	2	2	0	3	4	3	4	1	5	0	1	1	5	2	2	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1252C>T	p.Gln418Ter	p.Q418*	ENST00000370575	12/16	90	82	8	66	66	0	strelka-varscan-mutect	PYROXD2,stop_gained,p.Gln418Ter,ENST00000370575,NM_032709.2;PYROXD2,downstream_gene_variant,,ENST00000408492,;PYROXD2,non_coding_transcript_exon_variant,,ENST00000483923,;PYROXD2,upstream_gene_variant,,ENST00000464808,;	A	ENST00000370575	Transcript	stop_gained	1301/2028	1252/1746	418/581	Q/*	Cag/Tag		1		-1	PYROXD2	HGNC	HGNC:23517	protein_coding	YES	CCDS7474.1	ENSP00000359607	Q8N2H3		UPI000013CA6A	NM_032709.2			12/16		hmmpanther:PTHR10668:SF83,hmmpanther:PTHR10668																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	21	98390638	98390638	G	A	1	0	0	0	0	0	1	0	0	13022	1299	45	3		3	PYROXD2	10	98390638	Nonsense_Mutation	SNP	G	C3L-00913_TP	4823365	98390638	35406784	131	7367											
MGEA5	0	.	GRCh38	chr10	101798913	101798914	+	Frame_Shift_Ins	INS	-	-	T																															cgaagccattgaaattcccgINStaacatctgtgctcctttgg																								novel		C3L-00913_TP	C3L-00913_NB	-	-																c.1737dupA	p.Arg580ThrfsTer10	p.R580Tfs*10	ENST00000361464	9/16	230	210	20	170	170	0	varindel-pindel	MGEA5,frameshift_variant,p.Arg580ThrfsTer10,ENST00000361464,NM_012215.3;MGEA5,frameshift_variant,p.Arg527ThrfsTer10,ENST00000439817,NM_001142434.1;MGEA5,frameshift_variant,p.Arg580ThrfsTer10,ENST00000370094,;MGEA5,frameshift_variant,p.Arg527ThrfsTer10,ENST00000357797,;MGEA5,downstream_gene_variant,,ENST00000429860,;MGEA5,non_coding_transcript_exon_variant,,ENST00000482611,;MGEA5,upstream_gene_variant,,ENST00000479811,;MGEA5,upstream_gene_variant,,ENST00000492204,;	T	ENST00000361464	Transcript	frameshift_variant	2133-2134/5155	1737-1738/2751	579-580/916	-/X	-/A		1		-1	MGEA5	HGNC	HGNC:7056	protein_coding	YES	CCDS7520.1	ENSP00000354850	O60502		UPI0000073533	NM_012215.3			9/16		hmmpanther:PTHR13170:SF16,hmmpanther:PTHR13170																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	21	101798913	101798913	-	T	1	0	1	1	0	0	0	0	0	9511	1144	40	0		0	MGEA5	10	101798913	Frame_Shift_Ins	INS	-	C3L-00913_TP	3408275	101798913	31998509	132	7368											
NFKB2	0	.	GRCh38	chr10	102399431	102399431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactccggggaggaagccGcggagccaagcgccccctcc	7	2	16	16	4	0	0	0	0	0	0	2	4	2	4	6	5	3	0	6	5	2	0	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1261G>T	p.Ala421Ser	p.A421S	ENST00000369966	13/23	84	72	12	89	89	0	strelka-varscan-mutect	NFKB2,missense_variant,p.Ala421Ser,ENST00000428099,NM_001288724.1;NFKB2,missense_variant,p.Ala421Ser,ENST00000369966,NM_001077494.3;NFKB2,missense_variant,p.Ala421Ser,ENST00000189444,NM_001322934.1,NM_001261403.2,NM_002502.5;PSD,downstream_gene_variant,,ENST00000020673,NM_002779.4;PSD,downstream_gene_variant,,ENST00000406432,NM_001270965.1;PSD,downstream_gene_variant,,ENST00000611678,NM_001270966.1;NFKB2,downstream_gene_variant,,ENST00000601386,;NFKB2,downstream_gene_variant,,ENST00000471698,;NFKB2,non_coding_transcript_exon_variant,,ENST00000336486,;NFKB2,downstream_gene_variant,,ENST00000593908,;NFKB2,downstream_gene_variant,,ENST00000467116,;NFKB2,upstream_gene_variant,,ENST00000473400,;	T	ENST00000369966	Transcript	missense_variant	1511/3101	1261/2703	421/900	A/S	Gcg/Tcg		1		1	NFKB2	HGNC	HGNC:7795	protein_coding	YES	CCDS41564.1	ENSP00000358983	Q00653		UPI000016A5CD	NM_001077494.3	tolerated(0.72)		13/23																			MODERATE	1	SNV	1			1										PASS		rs1211166977	.												T	3	4	21	102399431	102399431	G	T	1	0	0	0	0	1	0	0	0	10413	1087	38	1		1	NFKB2	10	102399431	Missense_Mutation	SNP	G	C3L-00913_TP	600518	102399431	31397991	133	7369											
SEC23IP	0	.	GRCh38	chr10	119892856	119892856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcactaacttacttttctCctcctcggccacggagttca	7	12	8	14	2	2	0	1	0	1	0	5	1	3	1	3	3	2	2	3	3	2	5	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.74C>T	p.Ser25Phe	p.S25F	ENST00000369075	1/19	201	184	17	148	148	0	strelka-varscan-mutect	SEC23IP,missense_variant,p.Ser25Phe,ENST00000369075,NM_007190.3;SEC23IP,missense_variant,p.Ser25Phe,ENST00000543134,;SEC23IP,non_coding_transcript_exon_variant,,ENST00000470478,;MCMBP,upstream_gene_variant,,ENST00000569515,;	T	ENST00000369075	Transcript	missense_variant	146/7168	74/3003	25/1000	S/F	tCc/tTc		1		1	SEC23IP	HGNC	HGNC:17018	protein_coding	YES	CCDS7618.1	ENSP00000358071	Q9Y6Y8		UPI000006FCCE	NM_007190.3	deleterious(0)		1/19		Low_complexity_(Seg):seg,hmmpanther:PTHR23509,hmmpanther:PTHR23509:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	119892856	119892856	C	T	1	0	0	0	0	1	0	0	0	14270	855	30	3		3	SEC23IP	10	119892856	Missense_Mutation	SNP	C	C3L-00913_TP	17493425	119892856	13904566	134	7370											
SYCE1	0	.	GRCh38	chr10	133555400	133555400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgctctgggcttgggcaGggacttgcattccatgcttt	4	14	14	9	0	1	0	0	0	1	0	2	1	2	1	1	3	3	5	1	3	0	4			C3L-00913_TP	C3L-00913_NB	G	G																c.869C>G	p.Pro290Arg	p.P290R	ENST00000343131	12/13	351	319	32	253	253	0	strelka-varscan-mutect	SYCE1,missense_variant,p.Pro254Arg,ENST00000368517,NM_130784.2;SYCE1,missense_variant,p.Pro290Arg,ENST00000343131,NM_001143764.1;SYCE1,missense_variant,p.Pro290Arg,ENST00000303903,NM_001143763.1;CYP2E1,non_coding_transcript_exon_variant,,ENST00000368520,;SYCE1,non_coding_transcript_exon_variant,,ENST00000479535,;	C	ENST00000343131	Transcript	missense_variant	974/1309	869/1056	290/351	P/R	cCt/cGt	COSM5678382,COSM5678383	1		-1	SYCE1	HGNC	HGNC:28852	protein_coding	YES	CCDS44501.1	ENSP00000341282	Q8N0S2		UPI000013F901	NM_001143764.1	deleterious(0.02)		12/13		hmmpanther:PTHR21731:SF0,hmmpanther:PTHR21731											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	21	133555400	133555400	G	C	1	0	0	0	0	1	0	0	0	15816	1000	35	4		4	SYCE1	10	133555400	Missense_Mutation	SNP	G	C3L-00913_TP	13662544	133555400	242022	135	7371											
TRIM21	0	.	GRCh38	chr11	4390354	4390354	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccacgaaggggtccaggCagatagggcatgtgacctcc	9	6	14	12	1	0	2	0	1	0	1	3	3	3	2	4	4	0	3	4	4	2	1	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.56G>T	p.Cys19Phe	p.C19F	ENST00000254436	2/7	144	127	17	114	114	0	strelka-varscan-mutect	TRIM21,missense_variant,p.Cys19Phe,ENST00000254436,NM_003141.3;TRIM21,upstream_gene_variant,,ENST00000533692,;	A	ENST00000254436	Transcript	missense_variant	169/1924	56/1428	19/475	C/F	tGc/tTc		1		-1	TRIM21	HGNC	HGNC:11312	protein_coding	YES	CCDS44525.1	ENSP00000254436	P19474		UPI000013450B	NM_003141.3	deleterious(0)		2/7		PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF46,Pfam_domain:PF15227,Gene3D:3.30.40.10,SMART_domains:SM00184,SMART_domains:SM00504,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	4390354	4390354	C	A	1	0	0	0	0	1	0	0	0	16984	710	25	2		2	TRIM21	11	4390354	Missense_Mutation	SNP	C	C3L-00913_TP		4390354	130696268	136	7372											
OR51S1	0	.	GRCh38	chr11	4848854	4848854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcgagcaagacagaggactCcatgacagaaaagacatgga	17	3	13	8	1	0	5	0	1	0	4	1	8	1	7	1	3	1	1	1	3	3	0	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.355G>A	p.Glu119Lys	p.E119K	ENST00000322101	1/1	249	226	23	225	225	0	strelka-varscan-mutect	OR51S1,missense_variant,p.Glu119Lys,ENST00000322101,NM_001004758.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	T	ENST00000322101	Transcript	missense_variant	355/972	355/972	119/323	E/K	Gag/Aag		1		-1	OR51S1	HGNC	HGNC:15204	protein_coding	YES	CCDS31362.1	ENSP00000322754	Q8NGJ8	A0A126GWN3	UPI0000041C33	NM_001004758.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF73,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE		SNV				1										PASS		.	.												T	3	4	21	4848854	4848854	C	T	1	0	0	0	0	1	0	0	0	11179	864	30	3		3	OR51S1	11	4848854	Missense_Mutation	SNP	C	C3L-00913_TP	458500	4848854	130237768	137	7373											
OR51B6	0	.	GRCh38	chr11	5351729	5351729	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcggagtgacattgacCacaatgcccacagtgctagg	11	7	11	12	1	0	2	0	2	0	0	1	4	0	3	3	2	2	1	3	2	2	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.222C>A	p.=	p.T74T	ENST00000380219	1/1	160	138	22	152	152	0	strelka-varscan-mutect	OR51B6,synonymous_variant,p.=,ENST00000380219,NM_001004750.1;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;AC104389.31,upstream_gene_variant,,ENST00000450768,;	A	ENST00000380219	Transcript	synonymous_variant	222/939	222/939	74/312	T	acC/acA		1		1	OR51B6	HGNC	HGNC:19600	protein_coding	YES	CCDS31379.1	ENSP00000369568	Q9H340		UPI000014017D	NM_001004750.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF22,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW		SNV				1										PASS		.	.												A	2	1	21	5351729	5351729	C	A	1	0	0	0	0	0	0	0	1	11166	581	21	2		2	OR51B6	11	5351729	Silent	SNP	C	C3L-00913_TP	502875	5351729	129734893	138	7374											
SOX6	0	.	GRCh38	chr11	16055872	16055872	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgctccaggtgacacctgCatgctggccagctgagcggc	6	9	13	13	1	0	2	0	2	0	0	1	2	1	2	3	3	5	4	3	3	0	1	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1131G>T	p.Met377Ile	p.M377I	ENST00000396356	10/16	420	370	50	322	322	0	strelka-varscan-mutect	SOX6,missense_variant,p.Met377Ile,ENST00000396356,NM_033326.3;SOX6,missense_variant,p.Met377Ile,ENST00000316399,;SOX6,missense_variant,p.Met336Ile,ENST00000528252,NM_001145811.1;SOX6,missense_variant,p.Met339Ile,ENST00000527619,NM_017508.2;SOX6,missense_variant,p.Met377Ile,ENST00000528429,NM_001145819.1;SOX6,non_coding_transcript_exon_variant,,ENST00000524650,;	A	ENST00000396356	Transcript	missense_variant	1209/8865	1131/2427	377/808	M/I	atG/atT		1		-1	SOX6	HGNC	HGNC:16421	protein_coding	YES	CCDS7821.1	ENSP00000379644	P35712		UPI00001F9DE4	NM_033326.3	deleterious(0.03)		10/16		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF89																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	16055872	16055872	C	A	1	0	0	0	0	1	0	0	0	15281	710	25	2		2	SOX6	11	16055872	Missense_Mutation	SNP	C	C3L-00913_TP	10704143	16055872	119030750	139	7375											
KIAA1549L	0	.	GRCh38	chr11	33667981	33667981	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaacctgcaccccagcCtggagcaggccccggcgccc	7	2	11	21	2	0	0	0	0	0	0	0	1	0	1	8	3	5	2	8	3	1	0	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.5377C>A	p.Leu1793Met	p.L1793M	ENST00000321505	20/20	368	323	45	293	293	0	strelka-varscan-mutect	KIAA1549L,missense_variant,p.Leu1793Met,ENST00000321505,NM_012194.2;RP4-541C22.5,intron_variant,,ENST00000534431,;	A	ENST00000321505	Transcript	missense_variant	5557/11678	5377/5550	1793/1849	L/M	Ctg/Atg		1		1	KIAA1549L	HGNC	HGNC:24836	protein_coding	YES	CCDS44565.2	ENSP00000315295	Q6ZVL6		UPI0000E59322	NM_012194.2	deleterious(0)		20/20		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	33667981	33667981	C	A	1	0	0	0	0	1	0	0	0	8121	680	24	2		2	KIAA1549L	11	33667981	Missense_Mutation	SNP	C	C3L-00913_TP	17612109	33667981	101418641	140	7376											
OR4C13	0	.	GRCh38	chr11	49952677	49952677	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcacagattcactctaTgaaaacaagactatcttatt	15	13	4	9	0	4	4	2	2	2	2	4	4	4	4	0	0	1	0	0	0	6	5	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.255T>C	p.=	p.Y85Y	ENST00000555099	1/1	669	625	44	319	319	0	varscan-mutect	OR4C13,synonymous_variant,p.=,ENST00000555099,NM_001001955.2;	C	ENST00000555099	Transcript	synonymous_variant	287/1029	255/930	85/309	Y	taT/taC		1		1	OR4C13	HGNC	HGNC:15169	protein_coding	YES	CCDS31495.1	ENSP00000452277	Q8NGP0		UPI000013F7D1	NM_001001955.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF60,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												C	2	2	21	49952677	49952677	T	C	1	0	0	0	0	0	0	0	1	11124	1471	51	5		5	OR4C13	11	49952677	Silent	SNP	T	C3L-00913_TP	16284696	49952677	85133945	141	7377											
OR10AG1	0	.	GRCh38	chr11	55968164	55968164	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaaggagacactccgtGcctccaagcataagaaaaaa	17	5	9	10	1	1	3	1	0	0	3	3	4	3	3	3	1	2	1	3	1	6	1	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.300C>G	p.=	p.G100G	ENST00000312345	1/1	217	195	22	160	160	0	strelka-varscan-mutect	OR10AG1,synonymous_variant,p.=,ENST00000312345,NM_001005491.1;	C	ENST00000312345	Transcript	synonymous_variant	300/906	300/906	100/301	G	ggC/ggG		1		-1	OR10AG1	HGNC	HGNC:19607	protein_coding	YES	CCDS31514.1	ENSP00000311477	Q8NH19	A0A126GVM8	UPI000004B22B	NM_001005491.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF159,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												C	2	2	21	55968164	55968164	G	C	1	0	0	0	0	0	0	0	1	10972	1306	46	4		4	OR10AG1	11	55968164	Silent	SNP	G	C3L-00913_TP	6015487	55968164	79118458	142	7378											
MS4A3	0	.	GRCh38	chr11	60069618	60069618	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttgctggaattatgCgtaaccatctctaccatagc	10	12	6	13	1	2	0	1	0	1	0	3	1	2	1	3	1	5	2	3	1	5	5	rs778541342		C3L-00913_TP	C3L-00913_NB	C	C																c.558C>G	p.Cys186Trp	p.C186W	ENST00000278865	6/7	276	259	17	190	190	0	strelka-varscan-mutect	MS4A3,missense_variant,p.Cys186Trp,ENST00000278865,NM_006138.4;MS4A3,missense_variant,p.Cys140Trp,ENST00000358152,NM_001031809.1;MS4A3,missense_variant,p.Cys63Trp,ENST00000395032,NM_001031666.1;MS4A3,missense_variant,p.Cys140Trp,ENST00000534744,;MS4A3,3_prime_UTR_variant,,ENST00000525686,;MS4A3,non_coding_transcript_exon_variant,,ENST00000528952,;	G	ENST00000278865	Transcript	missense_variant	631/1613	558/645	186/214	C/W	tgC/tgG	rs778541342,COSM245777	1		1	MS4A3	HGNC	HGNC:7317	protein_coding	YES	CCDS31567.1	ENSP00000278865	Q96HJ5		UPI000006E45E	NM_006138.4	deleterious(0)		6/7		Transmembrane_helices:TMhelix,hmmpanther:PTHR23320:SF74,hmmpanther:PTHR23320,Pfam_domain:PF04103											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs778541342	.												G	3	3	21	60069618	60069618	C	G	1	0	0	0	0	1	0	0	0	9839	776	27	4		4	MS4A3	11	60069618	Missense_Mutation	SNP	C	C3L-00913_TP	4101454	60069618	75017004	143	7379											
CD6	0	.	GRCh38	chr11	61018360	61018360	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttccagccaccacccCagcccccttcggaggagcag	10	4	9	18	1	0	1	0	0	0	1	2	3	1	3	7	2	4	1	7	2	1	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1909C>A	p.Gln637Lys	p.Q637K	ENST00000313421	12/13	192	174	18	119	119	0	strelka-varscan-mutect	CD6,missense_variant,p.Gln637Lys,ENST00000313421,NM_006725.4;CD6,intron_variant,,ENST00000352009,NM_001254750.1;CD6,intron_variant,,ENST00000452451,NM_001254751.1;CD6,downstream_gene_variant,,ENST00000433107,;CD6,downstream_gene_variant,,ENST00000542157,;CD6,downstream_gene_variant,,ENST00000538611,;CD6,downstream_gene_variant,,ENST00000545105,;CD6,non_coding_transcript_exon_variant,,ENST00000505761,;CD6,intron_variant,,ENST00000344931,;CD6,downstream_gene_variant,,ENST00000419282,;	A	ENST00000313421	Transcript	missense_variant	2095/3252	1909/2007	637/668	Q/K	Cag/Aag		1		1	CD6	HGNC	HGNC:1691	protein_coding	YES	CCDS7999.1	ENSP00000323280	P30203		UPI000013F532	NM_006725.4	tolerated(0.09)		12/13		Low_complexity_(Seg):seg,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF331																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	61018360	61018360	C	A	1	0	0	0	0	1	0	0	0	2732	595	21	2		2	CD6	11	61018360	Missense_Mutation	SNP	C	C3L-00913_TP	948742	61018360	74068262	144	7380											
MYRF	0	.	GRCh38	chr11	61784353	61784353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgtgaggaggggagccttCcacagagtctccacacccac	10	6	11	14	0	1	2	0	1	1	1	3	4	2	4	4	3	1	0	4	3	0	1	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.3268C>A	p.Pro1090Thr	p.P1090T	ENST00000278836	25/27	291	264	27	178	177	1	strelka-varscan-mutect	MYRF,missense_variant,p.Pro1090Thr,ENST00000278836,NM_001127392.2;MYRF,missense_variant,p.Pro1050Thr,ENST00000265460,NM_013279.3;MYRF,missense_variant,p.Pro476Thr,ENST00000389602,;TMEM258,downstream_gene_variant,,ENST00000543510,;TMEM258,downstream_gene_variant,,ENST00000537328,NM_014206.3;TMEM258,intron_variant,,ENST00000535042,;MYRF,non_coding_transcript_exon_variant,,ENST00000539361,;MYRF,downstream_gene_variant,,ENST00000537318,;MYRF,downstream_gene_variant,,ENST00000536352,;MYRF,downstream_gene_variant,,ENST00000546247,;TMEM258,downstream_gene_variant,,ENST00000545210,;TMEM258,downstream_gene_variant,,ENST00000541893,;TMEM258,downstream_gene_variant,,ENST00000257262,;TMEM258,downstream_gene_variant,,ENST00000535297,;	A	ENST00000278836	Transcript	missense_variant	3364/5927	3268/3456	1090/1151	P/T	Cca/Aca		1		1	MYRF	HGNC	HGNC:1181	protein_coding	YES	CCDS44622.1	ENSP00000278836	Q9Y2G1		UPI0000D45F7B	NM_001127392.2	tolerated(0.58)		25/27		Pfam_domain:PF13888,hmmpanther:PTHR13029,hmmpanther:PTHR13029:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	61784353	61784353	C	A	1	0	0	0	0	1	0	0	0	10101	855	30	2		2	MYRF	11	61784353	Missense_Mutation	SNP	C	C3L-00913_TP	765993	61784353	73302269	145	7381											
INCENP	0	.	GRCh38	chr11	62146897	62146897	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggagcggctccaggcCgagaggtgagggacctgctg	8	4	19	10	2	0	2	0	1	0	1	1	6	1	4	3	5	3	3	3	5	0	0	rs35595038		C3L-00913_TP	C3L-00913_NB	C	C																c.2199C>T	p.=	p.A733A	ENST00000394818	15/19	303	262	41	227	227	0	strelka-varscan-mutect	INCENP,synonymous_variant,p.=,ENST00000394818,NM_001040694.1;INCENP,synonymous_variant,p.=,ENST00000278849,NM_020238.2;	T	ENST00000394818	Transcript	synonymous_variant	2401/3964	2199/2757	733/918	A	gcC/gcT	rs35595038	1		1	INCENP	HGNC	HGNC:6058	protein_coding	YES	CCDS44624.1	ENSP00000378295	Q9NQS7		UPI0000D7D6F3	NM_001040694.1			15/19		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13142:SF1,hmmpanther:PTHR13142																	LOW	1	SNV	1			1										PASS		rs35595038	.												T	2	4	21	62146897	62146897	C	T	1	0	0	0	0	0	0	0	1	7635	666	23	1		1	INCENP	11	62146897	Silent	SNP	C	C3L-00913_TP	362544	62146897	72939725	146	7382											
CHRM1	0	.	GRCh38	chr11	62910544	62910544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgccaaaggtgatgatgGgctgggagaggaactggatg	10	8	18	5	0	0	3	0	2	0	1	0	6	0	5	1	5	2	1	1	5	2	0	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.557C>A	p.Pro186His	p.P186H	ENST00000306960	2/2	294	258	36	256	255	1	strelka-varscan-mutect	CHRM1,missense_variant,p.Pro186His,ENST00000306960,NM_000738.2;CHRM1,missense_variant,p.Pro186His,ENST00000543973,;CHRM1,downstream_gene_variant,,ENST00000536524,;AP000438.2,intron_variant,,ENST00000543624,;	T	ENST00000306960	Transcript	missense_variant	1099/2964	557/1383	186/460	P/H	cCc/cAc		1		-1	CHRM1	HGNC	HGNC:1950	protein_coding	YES	CCDS8040.1	ENSP00000306490	P11229	Q53XZ3	UPI00001252AB	NM_000738.2	deleterious(0)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF283,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00243																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	62910544	62910544	G	T	1	0	0	0	0	1	0	0	0	3136	1232	43	2		2	CHRM1	11	62910544	Missense_Mutation	SNP	G	C3L-00913_TP	763647	62910544	72176078	147	7383											
PCF11	0	.	GRCh38	chr11	83169396	83169396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaggtggcctgagaattGaagggcctctgggtcaaggt	9	8	17	7	0	2	2	1	2	1	1	2	4	2	3	2	6	0	0	2	6	3	1	rs777465037		C3L-00913_TP	C3L-00913_NB	G	G																c.3061G>A	p.Glu1021Lys	p.E1021K	ENST00000298281	8/16	377	320	57	293	293	0	strelka-varscan-mutect	PCF11,missense_variant,p.Glu1021Lys,ENST00000298281,NM_015885.3;PCF11,downstream_gene_variant,,ENST00000530660,;PCF11,downstream_gene_variant,,ENST00000530304,;PCF11,upstream_gene_variant,,ENST00000530906,;	A	ENST00000298281	Transcript	missense_variant	3513/7677	3061/4668	1021/1555	E/K	Gaa/Aaa	rs777465037	1		1	PCF11	HGNC	HGNC:30097	protein_coding	YES	CCDS44689.1	ENSP00000298281	O94913		UPI00001BB2B7	NM_015885.3	deleterious(0.04)		8/16		hmmpanther:PTHR15921,hmmpanther:PTHR15921:SF3																	MODERATE	1	SNV	1			1										PASS		rs777465037	.												A	3	1	21	83169396	83169396	G	A	1	0	0	0	0	1	0	0	0	11661	1291	45	3		3	PCF11	11	83169396	Missense_Mutation	SNP	G	C3L-00913_TP	20258852	83169396	51917226	148	7384											
PCF11	0	.	GRCh38	chr11	83169441	83169441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagatttgaaggttgtcatGctttaaggtttgatgggcag	10	14	13	4	0	1	3	1	2	0	1	1	3	1	3	0	3	1	4	0	3	3	5	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.3106G>T	p.Ala1036Ser	p.A1036S	ENST00000298281	8/16	341	294	47	264	264	0	strelka-varscan-mutect	PCF11,missense_variant,p.Ala1036Ser,ENST00000298281,NM_015885.3;PCF11,downstream_gene_variant,,ENST00000530660,;PCF11,downstream_gene_variant,,ENST00000530304,;PCF11,upstream_gene_variant,,ENST00000530906,;	T	ENST00000298281	Transcript	missense_variant	3558/7677	3106/4668	1036/1555	A/S	Gct/Tct		1		1	PCF11	HGNC	HGNC:30097	protein_coding	YES	CCDS44689.1	ENSP00000298281	O94913		UPI00001BB2B7	NM_015885.3	tolerated(0.77)		8/16		hmmpanther:PTHR15921,hmmpanther:PTHR15921:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	83169441	83169441	G	T	1	0	0	0	0	1	0	0	0	11661	1319	46	2		2	PCF11	11	83169441	Missense_Mutation	SNP	G	C3L-00913_TP	45	83169441	51917181	149	7385											
GRM5	0	.	GRCh38	chr11	88604914	88604914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatagatggcgttgatcaCaaatcccattttggaatcct	12	12	8	9	2	1	2	1	1	0	1	3	4	3	3	2	2	0	1	2	2	4	4	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1198G>T	p.Val400Leu	p.V400L	ENST00000305447	4/9	424	356	68	276	276	0	strelka-varscan-mutect	GRM5,missense_variant,p.Val400Leu,ENST00000455756,NM_000842.4;GRM5,missense_variant,p.Val400Leu,ENST00000305447,NM_001143831.2;GRM5,missense_variant,p.Val400Leu,ENST00000305432,;	A	ENST00000305447	Transcript	missense_variant	1348/4571	1198/3639	400/1212	V/L	Gtg/Ttg		1		-1	GRM5	HGNC	HGNC:4597	protein_coding	YES	CCDS44694.1	ENSP00000306138	P41594		UPI000012F081	NM_001143831.2	deleterious(0)		4/9		Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00593,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		rs1281123762	.												A	3	1	21	88604914	88604914	C	A	1	0	0	0	0	1	0	0	0	6682	478	17	2		2	GRM5	11	88604914	Missense_Mutation	SNP	C	C3L-00913_TP	5435473	88604914	46481708	150	7386											
ATM	0	.	GRCh38	chr11	108353764	108353764	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcactgtattctttactttAggtgttgcttttgaacaggg	7	19	9	6	0	2	1	1	1	1	0	2	1	2	1	0	2	3	3	0	2	4	10	novel		C3L-00913_TP	C3L-00913_NB	A	A																c.8672-2A>G		p.X2891_splice	ENST00000278616		507	429	78	396	396	0	strelka-varscan-mutect	ATM,splice_acceptor_variant,,ENST00000278616,NM_000051.3;ATM,splice_acceptor_variant,,ENST00000452508,;C11orf65,intron_variant,,ENST00000615746,;C11orf65,intron_variant,,ENST00000525729,;C11orf65,intron_variant,,ENST00000524755,;ATM,splice_acceptor_variant,,ENST00000525178,;C11orf65,intron_variant,,ENST00000526725,;ATM,splice_acceptor_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000527181,;C11orf65,intron_variant,,ENST00000527531,;	G	ENST00000278616	Transcript	splice_acceptor_variant	-/13147	8672/9171	2891/3056				1		1	ATM	HGNC	HGNC:795	protein_coding	YES	CCDS31669.1	ENSP00000278616	Q13315	A0A024R3C7	UPI000016B511	NM_000051.3				59/62																		HIGH		SNV	5			1										PASS		rs779170307	.												G	5	3	21	108353764	108353764	A	G	1	0	0	0	0	0	0	1	0	1261	434	15	5		5	ATM	11	108353764	Splice_Site	SNP	A	C3L-00913_TP	19748850	108353764	26732858	151	7387											
OR8B4	0	.	GRCh38	chr11	124424104	124424104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagatgttgttaagtaggtGaatgtccctgacccaaaaaa	16	10	9	6	0	0	3	0	2	0	1	1	3	1	3	2	1	0	3	2	1	7	3			C3L-00913_TP	C3L-00913_NB	G	G																c.768C>G	p.Phe256Leu	p.F256L	ENST00000356130	1/1	346	325	21	259	259	0	strelka-varscan-mutect	OR8B4,missense_variant,p.Phe256Leu,ENST00000356130,NM_001005196.1;	C	ENST00000356130	Transcript	missense_variant	790/990	768/930	256/309	F/L	ttC/ttG	COSM3444781	1		-1	OR8B4	HGNC	HGNC:8473	protein_coding	YES	CCDS31710.1	ENSP00000348449	Q96RC9		UPI00000015B0	NM_001005196.1	tolerated_low_confidence(0.23)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF208,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												C	3	2	21	124424104	124424104	G	C	1	0	0	0	0	1	0	0	0	11299	1281	45	4		4	OR8B4	11	124424104	Missense_Mutation	SNP	G	C3L-00913_TP	16070340	124424104	10662518	152	7388											
DDX25	0	.	GRCh38	chr11	125905572	125905572	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggttctattaataacatCaatgaagatgatgaagaaga	18	11	9	3	0	2	6	1	3	1	3	2	7	2	6	0	1	1	1	0	1	7	4	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.150C>T	p.=	p.I50I	ENST00000263576	3/12	236	223	13	169	169	0	strelka-varscan-mutect	DDX25,synonymous_variant,p.=,ENST00000263576,NM_013264.4;DDX25,synonymous_variant,p.=,ENST00000530414,;DDX25,synonymous_variant,p.=,ENST00000530129,;DDX25,5_prime_UTR_variant,,ENST00000525943,;HYLS1,downstream_gene_variant,,ENST00000425380,NM_001134793.1;PUS3,upstream_gene_variant,,ENST00000227474,NM_031307.3;HYLS1,downstream_gene_variant,,ENST00000356438,NM_145014.2;HYLS1,downstream_gene_variant,,ENST00000526028,;DDX25,upstream_gene_variant,,ENST00000526875,;PUS3,upstream_gene_variant,,ENST00000613398,NM_001271985.1;PUS3,upstream_gene_variant,,ENST00000534158,;PUS3,upstream_gene_variant,,ENST00000529801,;RP11-680F20.9,intron_variant,,ENST00000533033,;DDX25,5_prime_UTR_variant,,ENST00000637851,;	T	ENST00000263576	Transcript	synonymous_variant	305/7555	150/1452	50/483	I	atC/atT		1		1	DDX25	HGNC	HGNC:18698	protein_coding	YES	CCDS44766.1	ENSP00000263576	Q9UHL0		UPI000018CE78	NM_013264.4			3/12		hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF331,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	21	125905572	125905572	C	T	1	0	0	0	0	0	0	0	1	4155	816	29	3		3	DDX25	11	125905572	Silent	SNP	C	C3L-00913_TP	1481468	125905572	9181050	153	7389											
PRMT8	0	.	GRCh38	chr12	3593125	3593125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatttcacagtagacttGgattttaagggacagctgtg	10	13	11	7	1	1	1	1	0	0	1	2	4	1	3	0	2	1	2	0	2	2	5			C3L-00913_TP	C3L-00913_NB	G	G																c.1128G>T	p.Leu376Phe	p.L376F	ENST00000382622	10/10	459	405	54	358	357	1	strelka-varscan-mutect	PRMT8,missense_variant,p.Leu376Phe,ENST00000382622,NM_019854.4;PRMT8,missense_variant,p.Leu367Phe,ENST00000452611,NM_001256536.1;PRMT8,non_coding_transcript_exon_variant,,ENST00000261252,;PRMT8,non_coding_transcript_exon_variant,,ENST00000543701,;	T	ENST00000382622	Transcript	missense_variant	1518/2366	1128/1185	376/394	L/F	ttG/ttT	COSM5375062,COSM5375063	1		1	PRMT8	HGNC	HGNC:5188	protein_coding	YES	CCDS8521.2	ENSP00000372067	Q9NR22		UPI00005B2E00	NM_019854.4	tolerated(0.15)		10/10		Gene3D:2.70.160.11,PROSITE_profiles:PS51678,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF47,Superfamily_domains:SSF53335											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	21	3593125	3593125	G	T	1	0	0	0	0	1	0	0	0	12673	1339	47	2		2	PRMT8	12	3593125	Missense_Mutation	SNP	G	C3L-00913_TP		3593125	129682184	154	7390											
CHD4	0	.	GRCh38	chr12	6582267	6582268	+	Frame_Shift_Del	DEL	AG	AG	-																															cacataaatgccgcatgaaaAgagagacatatgccctgtgt																								novel		C3L-00913_TP	C3L-00913_NB	AG	AG																c.4384_4385delCT	p.Leu1462PhefsTer7	p.L1462Ffs*7	ENST00000357008	30/40	42	36	6	23	23	0	sindel-pindel	CHD4,frameshift_variant,p.Leu1487PhefsTer7,ENST00000544484,;CHD4,frameshift_variant,p.Leu1455PhefsTer7,ENST00000544040,NM_001297553.1;CHD4,frameshift_variant,p.Leu1462PhefsTer7,ENST00000357008,NM_001273.3;SCARNA11,upstream_gene_variant,,ENST00000516089,;RP5-940J5.6,intron_variant,,ENST00000501075,;CHD4,non_coding_transcript_exon_variant,,ENST00000540960,;CHD4,intron_variant,,ENST00000536301,;CHD4,upstream_gene_variant,,ENST00000542717,;	-	ENST00000357008	Transcript	frameshift_variant	4548-4549/6496	4384-4385/5739	1462/1912	L/X	CTt/t		1		-1	CHD4	HGNC	HGNC:1919	protein_coding	YES	CCDS8552.1	ENSP00000349508	Q14839		UPI000013C8EF	NM_001273.3			30/40		hmmpanther:PTHR10799:SF554,hmmpanther:PTHR10799,Pfam_domain:PF06461,SMART_domains:SM01146																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	21	6582267	6582267	AG	-	1	0	1	0	1	0	0	0	0	3086	72	3	0		0	CHD4	12	6582267	Frame_Shift_Del	DEL	AG	C3L-00913_TP	2989142	6582267	126693042	155	7391											
KRAS	0	.	GRCh38	chr12	25245348	25245348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcactcttgcctacgcCaccagctccaactaccacaa	12	6	5	18	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	5	3	rs121913535		C3L-00913_TP	C3L-00913_NB	C	C																c.37G>T	p.Gly13Cys	p.G13C	ENST00000256078	2/6	479	419	60	344	343	1	strelka-varscan-mutect	KRAS,missense_variant,p.Gly13Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly13Cys,ENST00000556131,;KRAS,missense_variant,p.Gly13Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly13Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	101/1119	37/570	13/189	G/C	Ggc/Tgc	rs121913535,COSM1152505,COSM3384258,COSM527,COSM528,COSM529	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.02)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1	1										PASS		rs121913535	.												A	3	1	21	25245348	25245348	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245348	Missense_Mutation	SNP	C	C3L-00913_TP	18663081	25245348	108029961	156	7392											
TMTC1	0	.	GRCh38	chr12	29751811	29751811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgaggatggcctggcaGtgaggagggctgggggctcc	5	6	21	9	1	0	2	0	2	0	0	1	4	1	4	3	8	0	3	3	8	0	0	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.793C>A	p.Leu265Met	p.L265M	ENST00000539277	5/18	210	193	17	148	148	0	strelka-mutect	TMTC1,missense_variant,p.Leu157Met,ENST00000256062,NM_175861.3;TMTC1,missense_variant,p.Leu265Met,ENST00000551659,;TMTC1,missense_variant,p.Leu265Met,ENST00000552618,;TMTC1,missense_variant,p.Leu265Met,ENST00000539277,NM_001193451.1;TMTC1,non_coding_transcript_exon_variant,,ENST00000553189,;	T	ENST00000539277	Transcript	missense_variant	852/2758	793/2649	265/882	L/M	Ctg/Atg		1		-1	TMTC1	HGNC	HGNC:24099	protein_coding	YES	CCDS53772.1	ENSP00000442046	Q8IUR5		UPI0001DD37FA	NM_001193451.1	tolerated(0.09)		5/18		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF401,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	29751811	29751811	G	T	1	0	0	0	0	1	0	0	0	16734	1020	36	2		2	TMTC1	12	29751811	Missense_Mutation	SNP	G	C3L-00913_TP	4506463	29751811	103523498	157	7393											
CAPRIN2	0	.	GRCh38	chr12	30719209	30719209	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctagtgaagacggttgcttgCctgggggaattgctgcctgg	6	11	16	8	1	0	2	0	1	0	1	0	3	0	3	2	4	4	3	2	4	3	4	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.2060G>T	p.Gly687Val	p.G687V	ENST00000395805	12/17	182	161	21	114	114	0	strelka-varscan-mutect	CAPRIN2,missense_variant,p.Gly687Val,ENST00000395805,NM_001206856.2;CAPRIN2,missense_variant,p.Gly722Val,ENST00000417045,NM_032156.4;CAPRIN2,missense_variant,p.Gly468Val,ENST00000433722,;CAPRIN2,missense_variant,p.Gly641Val,ENST00000537108,;CAPRIN2,intron_variant,,ENST00000298892,NM_023925.4,NM_001002259.2;CAPRIN2,non_coding_transcript_exon_variant,,ENST00000620681,;CAPRIN2,3_prime_UTR_variant,,ENST00000537553,;CAPRIN2,3_prime_UTR_variant,,ENST00000454014,NM_001319842.1;CAPRIN2,3_prime_UTR_variant,,ENST00000548676,;CAPRIN2,upstream_gene_variant,,ENST00000614865,;	A	ENST00000395805	Transcript	missense_variant	2608/4156	2060/2718	687/905	G/V	gGc/gTc		1		-1	CAPRIN2	HGNC	HGNC:21259	protein_coding		CCDS55816.1	ENSP00000379150	Q6IMN6		UPI0000DA6CAD	NM_001206856.2	tolerated(0.43)		12/17		hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF5																	MODERATE		SNV	1			1										PASS		.	.												A	3	1	21	30719209	30719209	C	A	1	0	0	0	0	1	0	0	0	2331	739	26	2		2	CAPRIN2	12	30719209	Missense_Mutation	SNP	C	C3L-00913_TP	967398	30719209	102556100	158	7394											
DNM1L	0	.	GRCh38	chr12	32742668	32742698	+	Frame_Shift_Del	DEL	AAATCATCCTTATTGGATGATCTTCTGACAG	AAATCATCCTTATTGGATGATCTTCTGACAG	-																															agctagtaggccagctgtatAaatcatccttattggatgat																								novel		C3L-00913_TP	C3L-00913_NB	AAATCATCCTTATTGGATGATCTTCTGACAG	AAATCATCCTTATTGGATGATCTTCTGACAG																c.2115_2145delATCATCCTTATTGGATGATCTTCTGACAGAA	p.Lys705AsnfsTer16	p.K705Nfs*16	ENST00000553257	20/21	689	617	72	474	474	0	sindel-pindel	DNM1L,frameshift_variant,p.Lys666AsnfsTer16,ENST00000452533,NM_012063.3;DNM1L,frameshift_variant,p.Lys694AsnfsTer16,ENST00000381000,NM_001278465.1;DNM1L,frameshift_variant,p.Lys489AsnfsTer16,ENST00000414834,NM_001278466.1;DNM1L,frameshift_variant,p.Lys668AsnfsTer16,ENST00000358214,;DNM1L,frameshift_variant,p.Lys655AsnfsTer16,ENST00000266481,NM_005690.4;DNM1L,frameshift_variant,p.Lys705AsnfsTer16,ENST00000553257,NM_001278464.1;DNM1L,frameshift_variant,p.Lys692AsnfsTer16,ENST00000549701,NM_012062.4;DNM1L,frameshift_variant,p.Lys681AsnfsTer16,ENST00000547312,NM_001278463.1;YARS2,downstream_gene_variant,,ENST00000324868,NM_001040436.2;YARS2,intron_variant,,ENST00000551673,;DNM1L,3_prime_UTR_variant,,ENST00000546757,;DNM1L,3_prime_UTR_variant,,ENST00000546649,;DNM1L,non_coding_transcript_exon_variant,,ENST00000553031,;DNM1L,non_coding_transcript_exon_variant,,ENST00000547640,;YARS2,downstream_gene_variant,,ENST00000548490,;DNM1L,downstream_gene_variant,,ENST00000552743,;DNM1L,downstream_gene_variant,,ENST00000550093,;DNM1L,downstream_gene_variant,,ENST00000549157,;DNM1L,downstream_gene_variant,,ENST00000547078,;	-	ENST00000553257	Transcript	frameshift_variant	2190-2220/2699	2113-2143/2250	705-715/749	KSSLLDDLLTE/X	AAATCATCCTTATTGGATGATCTTCTGACAGaa/aa		1		1	DNM1L	HGNC	HGNC:2973	protein_coding	YES	CCDS61095.1	ENSP00000449089	O00429		UPI00017A7CB6	NM_001278464.1			20/21		Low_complexity_(Seg):seg,PROSITE_profiles:PS51388,hmmpanther:PTHR11566:SF39,hmmpanther:PTHR11566,Pfam_domain:PF02212,SMART_domains:SM00302																	HIGH		deletion	2	2		1										PASS		.	.												-	7	5	21	32742668	32742668	AAATCATCCTTATTGGATGATCTTCTGACAG	-	1	0	1	0	1	0	0	0	0	4484	363	13	0		0	DNM1L	12	32742668	Frame_Shift_Del	DEL	AAATCATCCTTATTGGATGATCTTCTGACAG	C3L-00913_TP	2023459	32742668	100532641	159	7395											
ADAMTS20	0	.	GRCh38	chr12	43492540	43492540	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagtgtcatggtgggaaggGtgaacatcatcaaggtcatt	11	10	14	6	0	4	1	4	1	0	0	4	2	4	2	0	4	1	1	0	4	3	1	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1041C>G	p.His347Gln	p.H347Q	ENST00000389420	6/39	339	297	42	211	211	0	strelka-varscan-mutect	ADAMTS20,missense_variant,p.His347Gln,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.His347Gln,ENST00000395541,;ADAMTS20,missense_variant,p.His347Gln,ENST00000553158,;	C	ENST00000389420	Transcript	missense_variant	1041/6076	1041/5733	347/1910	H/Q	caC/caG		1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3	tolerated(0.13)		6/39		PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	21	43492540	43492540	G	C	1	0	0	0	0	1	0	0	0	310	1252	44	4		4	ADAMTS20	12	43492540	Missense_Mutation	SNP	G	C3L-00913_TP	10749872	43492540	89782769	160	7396											
DDX23	0	.	GRCh38	chr12	48837636	48837636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctccctgcgttcccgaCgttcccgttcctgaggatct	3	13	8	17	4	2	1	0	1	2	0	7	3	6	2	5	1	1	3	5	1	0	3	rs768510377		C3L-00913_TP	C3L-00913_NB	C	C																c.641G>A	p.Arg214His	p.R214H	ENST00000308025	7/17	276	251	25	175	175	0	strelka-varscan-mutect	DDX23,missense_variant,p.Arg214His,ENST00000308025,NM_004818.2;DDX23,missense_variant,p.Arg58His,ENST00000550834,;DDX23,downstream_gene_variant,,ENST00000552512,;DDX23,downstream_gene_variant,,ENST00000551468,;DDX23,intron_variant,,ENST00000553182,;DDX23,downstream_gene_variant,,ENST00000552369,;DDX23,downstream_gene_variant,,ENST00000552555,;DDX23,non_coding_transcript_exon_variant,,ENST00000551098,;DDX23,non_coding_transcript_exon_variant,,ENST00000547165,;DDX23,non_coding_transcript_exon_variant,,ENST00000551189,;DDX23,intron_variant,,ENST00000547135,;DDX23,upstream_gene_variant,,ENST00000552802,;DDX23,upstream_gene_variant,,ENST00000547290,;DDX23,upstream_gene_variant,,ENST00000551331,;DDX23,upstream_gene_variant,,ENST00000552069,;DDX23,upstream_gene_variant,,ENST00000549795,;DDX23,upstream_gene_variant,,ENST00000547842,;DDX23,upstream_gene_variant,,ENST00000553065,;	T	ENST00000308025	Transcript	missense_variant	721/3248	641/2463	214/820	R/H	cGt/cAt	rs768510377,COSM4676782	1		-1	DDX23	HGNC	HGNC:17347	protein_coding	YES	CCDS8770.1	ENSP00000310723	Q9BUQ8	A0A024R0Z3	UPI0000073875	NM_004818.2	tolerated(0.13)		7/17		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs768510377	.												T	3	4	21	48837636	48837636	C	T	1	0	0	0	0	1	0	0	0	4153	536	19	1		1	DDX23	12	48837636	Missense_Mutation	SNP	C	C3L-00913_TP	5345096	48837636	84437673	161	7397											
KMT2D	0	.	GRCh38	chr12	49048041	49048041	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggccctctgccccccggCcaaagctgccacataccaca	8	5	9	19	1	1	0	0	0	1	0	1	0	1	0	7	3	4	1	7	3	2	1			C3L-00913_TP	C3L-00913_NB	C	C																c.4160G>C	p.Gly1387Ala	p.G1387A	ENST00000301067	14/54	85	73	12	50	50	0	strelka-varscan-mutect	KMT2D,missense_variant,p.Gly1387Ala,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000550356,;	G	ENST00000301067	Transcript	missense_variant	4160/19419	4160/16614	1387/5537	G/A	gGc/gCc	COSM693665,COSM693666,COSM940073,COSM940074	1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3	deleterious(0)		14/54		PROSITE_profiles:PS50016,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF380,Gene3D:3.30.40.10,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		.	.												G	3	3	21	49048041	49048041	C	G	1	0	0	0	0	1	0	0	0	8298	739	26	4		4	KMT2D	12	49048041	Missense_Mutation	SNP	C	C3L-00913_TP	210405	49048041	84227268	162	7398											
ARHGAP9	0	.	GRCh38	chr12	57476443	57476443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaacaccacccaagacgggCcccagttcttcctgcgggga	9	7	10	15	2	1	1	0	0	1	1	2	2	2	2	5	3	2	1	5	3	2	3	rs773143456		C3L-00913_TP	C3L-00913_NB	C	C																c.1037G>T	p.Gly346Val	p.G346V	ENST00000393791	8/18	201	183	18	135	135	0	strelka-varscan-mutect	ARHGAP9,missense_variant,p.Gly417Val,ENST00000393797,NM_001319850.1;ARHGAP9,missense_variant,p.Gly425Val,ENST00000550288,;ARHGAP9,missense_variant,p.Gly346Val,ENST00000393791,NM_032496.2;ARHGAP9,missense_variant,p.Gly346Val,ENST00000424809,NM_001080157.1;ARHGAP9,missense_variant,p.Gly162Val,ENST00000430041,NM_001080156.1;ARHGAP9,missense_variant,p.Gly162Val,ENST00000548139,;ARHGAP9,missense_variant,p.Gly131Val,ENST00000552604,;GLI1,downstream_gene_variant,,ENST00000228682,NM_005269.2;GLI1,downstream_gene_variant,,ENST00000546141,NM_001167609.1;GLI1,downstream_gene_variant,,ENST00000543426,NM_001160045.1;GLI1,downstream_gene_variant,,ENST00000528467,;ARHGAP9,upstream_gene_variant,,ENST00000550399,;ARHGAP9,downstream_gene_variant,,ENST00000552066,;ARHGAP9,downstream_gene_variant,,ENST00000552249,;ARHGAP9,downstream_gene_variant,,ENST00000549602,;ARHGAP9,downstream_gene_variant,,ENST00000551452,;ARHGAP9,upstream_gene_variant,,ENST00000550130,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000550454,;MARS,intron_variant,,ENST00000549133,;ARHGAP9,upstream_gene_variant,,ENST00000547200,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000546200,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000552953,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000548148,;ARHGAP9,downstream_gene_variant,,ENST00000552420,;ARHGAP9,upstream_gene_variant,,ENST00000550440,;ARHGAP9,downstream_gene_variant,,ENST00000547216,;ARHGAP9,upstream_gene_variant,,ENST00000546704,;ARHGAP9,downstream_gene_variant,,ENST00000551000,;ARHGAP9,downstream_gene_variant,,ENST00000551574,;	A	ENST00000393791	Transcript	missense_variant	1176/2597	1037/2196	346/731	G/V	gGc/gTc	rs773143456	1		-1	ARHGAP9	HGNC	HGNC:14130	protein_coding	YES	CCDS8941.2	ENSP00000377380	Q9BRR9		UPI000007131B	NM_032496.2	tolerated(0.14)		8/18		PROSITE_profiles:PS50003,hmmpanther:PTHR23181:SF4,hmmpanther:PTHR23181,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		rs773143456	.												A	3	1	21	57476443	57476443	C	A	1	0	0	0	0	1	0	0	0	1019	739	26	2		2	ARHGAP9	12	57476443	Missense_Mutation	SNP	C	C3L-00913_TP	8428402	57476443	75798866	163	7399											
KCNC2	0	.	GRCh38	chr12	75051274	75051274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttccaggcaaaaagttGtaattgaaaccaggatgaag	15	10	11	5	0	0	2	0	2	0	0	1	3	1	3	2	2	1	4	2	2	5	4	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.731C>A	p.Thr244Lys	p.T244K	ENST00000549446	3/5	70	60	10	74	73	1	strelka-varscan-mutect	KCNC2,missense_variant,p.Thr244Lys,ENST00000549446,NM_139137.3;KCNC2,missense_variant,p.Thr244Lys,ENST00000298972,NM_139136.3;KCNC2,missense_variant,p.Thr244Lys,ENST00000350228,NM_153748.2;KCNC2,missense_variant,p.Thr244Lys,ENST00000548513,;KCNC2,missense_variant,p.Thr244Lys,ENST00000550433,NM_001260498.1;KCNC2,missense_variant,p.Thr244Lys,ENST00000393288,NM_001260497.1;KCNC2,missense_variant,p.Thr244Lys,ENST00000540018,NM_001260499.1;KCNC2,non_coding_transcript_exon_variant,,ENST00000546456,;KCNC2,upstream_gene_variant,,ENST00000548243,;	T	ENST00000549446	Transcript	missense_variant	1412/5625	731/1917	244/638	T/K	aCa/aAa		1		-1	KCNC2	HGNC	HGNC:6234	protein_coding	YES	CCDS9007.1	ENSP00000449253	Q96PR1	A0A024RBA5	UPI000004DB9B	NM_139137.3	tolerated(0.05)		3/5		Gene3D:1.20.120.350,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF157,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	75051274	75051274	G	T	1	0	0	0	0	1	0	0	0	7931	1377	48	2		2	KCNC2	12	75051274	Missense_Mutation	SNP	G	C3L-00913_TP	17574831	75051274	58224035	164	7400											
LRRIQ1	0	.	GRCh38	chr12	85153094	85153094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagctcaagcatggttatGtaatgacaaagaaaatttgt	15	12	8	6	0	1	2	1	1	0	1	2	2	2	2	1	1	2	4	1	1	6	3	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.4490G>T	p.Cys1497Phe	p.C1497F	ENST00000393217	21/27	264	229	35	193	193	0	strelka-varscan-mutect	LRRIQ1,missense_variant,p.Cys1497Phe,ENST00000393217,NM_001079910.1;	T	ENST00000393217	Transcript	missense_variant	4551/5394	4490/5169	1497/1722	C/F	tGt/tTt		1		1	LRRIQ1	HGNC	HGNC:25708	protein_coding	YES	CCDS41816.1	ENSP00000376910	Q96JM4	A0A140VJN5	UPI0000ED4E82	NM_001079910.1	deleterious(0.03)		21/27																			MODERATE	1	SNV	5			1										PASS		rs1179266189	.												T	3	4	21	85153094	85153094	G	T	1	0	0	0	0	1	0	0	0	8935	1377	48	2		2	LRRIQ1	12	85153094	Missense_Mutation	SNP	G	C3L-00913_TP	10101820	85153094	48122215	165	7401											
UTP20	0	.	GRCh38	chr12	101381191	101381191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattgcattccaaattcttgGatcagtctctaggagaacag	13	12	8	8	0	3	1	1	0	2	1	5	3	4	2	1	2	2	1	1	2	4	5	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.7636G>A	p.Asp2546Asn	p.D2546N	ENST00000261637	58/62	281	253	28	276	276	0	strelka-varscan-mutect	UTP20,missense_variant,p.Asp2546Asn,ENST00000261637,NM_014503.2;	A	ENST00000261637	Transcript	missense_variant	7810/9025	7636/8358	2546/2785	D/N	Gat/Aat		1		1	UTP20	HGNC	HGNC:17897	protein_coding	YES	CCDS9081.1	ENSP00000261637	O75691		UPI00001FB38B	NM_014503.2	tolerated(0.05)		58/62		hmmpanther:PTHR17695,hmmpanther:PTHR17695:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	101381191	101381191	G	A	1	0	0	0	0	1	0	0	0	17642	1174	41	3		3	UTP20	12	101381191	Missense_Mutation	SNP	G	C3L-00913_TP	16228097	101381191	31894118	166	7402											
ZNF140	0	.	GRCh38	chr12	133093424	133093424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgttttccaggctttttttCagctaactgtgtcagcttct	5	19	8	9	0	3	0	2	0	1	0	4	0	4	0	1	1	3	4	1	1	1	7	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.245C>T	p.Ser82Leu	p.S82L	ENST00000319849	5/6	210	196	14	160	160	0	strelka-mutect	ZNF140,missense_variant,p.Ser82Leu,ENST00000319849,;ZNF140,intron_variant,,ENST00000355557,NM_003440.3;ZNF140,intron_variant,,ENST00000544426,NM_001300776.1,NM_001300778.1,NM_001300777.1;ZNF140,intron_variant,,ENST00000429434,;ZNF140,intron_variant,,ENST00000440550,;ZNF140,intron_variant,,ENST00000356456,;ZNF140,intron_variant,,ENST00000412146,;ZNF140,intron_variant,,ENST00000536790,;ZNF140,intron_variant,,ENST00000392041,;	T	ENST00000319849	Transcript	missense_variant	434/596	245/345	82/114	S/L	tCa/tTa		1		1	ZNF140	HGNC	HGNC:12925	protein_coding			ENSP00000437913		F5H644	UPI000204AC09		deleterious(0)		5/6																			MODERATE		SNV	5			1										PASS		.	.												T	3	4	21	133093424	133093424	C	T	1	0	0	0	0	1	0	0	0	18310	838	29	3		3	ZNF140	12	133093424	Missense_Mutation	SNP	C	C3L-00913_TP	31712233	133093424	181885	167	7403											
TRPC4	0	.	GRCh38	chr13	37637365	37637365	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgggcggctcctgaacCaccagggcagagccattgct	7	7	12	15	1	0	2	0	1	0	1	2	2	2	2	5	3	3	3	5	3	1	1	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.2487G>T	p.=	p.V829V	ENST00000625583	10/10	241	228	13	236	236	0	strelka-varscan-mutect	TRPC4,synonymous_variant,p.=,ENST00000379705,NM_016179.2;TRPC4,synonymous_variant,p.=,ENST00000625583,NM_003306.1;TRPC4,synonymous_variant,p.=,ENST00000338947,NM_001135958.1;TRPC4,synonymous_variant,p.=,ENST00000379679,;TRPC4,intron_variant,,ENST00000358477,NM_001135955.1;TRPC4,intron_variant,,ENST00000355779,NM_001135957.1;TRPC4,intron_variant,,ENST00000379673,NM_001135956.1;TRPC4,intron_variant,,ENST00000426868,;TRPC4,3_prime_UTR_variant,,ENST00000488717,;	A	ENST00000625583	Transcript	synonymous_variant	2487/3009	2487/2949	829/982	V	gtG/gtT		1		-1	TRPC4	HGNC	HGNC:12336	protein_coding	YES	CCDS45037.1	ENSP00000486109	Q9UBN4		UPI000006E5BE	NM_003306.1			10/10		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF25,Prints_domain:PR01645																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	21	37637365	37637365	C	A	1	0	0	0	0	0	0	0	1	17085	581	21	2		2	TRPC4	13	37637365	Silent	SNP	C	C3L-00913_TP		37637365	76726963	168	7404											
FREM2	0	.	GRCh38	chr13	38690586	38690586	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatagtaatggaaggtgAtaaaagtgttataacatcag	16	12	11	2	0	1	2	1	2	0	0	1	3	1	3	0	2	1	3	0	2	7	6	rs762896753		C3L-00913_TP	C3L-00913_NB	A	A																c.3242A>G	p.Asp1081Gly	p.D1081G	ENST00000280481	1/24	668	627	41	520	519	1	strelka-varscan-mutect	FREM2,missense_variant,p.Asp1081Gly,ENST00000280481,NM_207361.5;	G	ENST00000280481	Transcript	missense_variant	3458/16070	3242/9510	1081/3169	D/G	gAt/gGt	rs762896753	1		1	FREM2	HGNC	HGNC:25396	protein_coding	YES	CCDS31960.1	ENSP00000280481	Q5SZK8		UPI000443805C	NM_207361.5	tolerated(0.49)		1/24		hmmpanther:PTHR11878:SF32,hmmpanther:PTHR11878,Pfam_domain:PF16184																	MODERATE	1	SNV	2			1										PASS		rs762896753	.												G	3	3	21	38690586	38690586	A	G	1	0	0	0	0	1	0	0	0	5912	333	12	5		5	FREM2	13	38690586	Missense_Mutation	SNP	A	C3L-00913_TP	1053221	38690586	75673742	169	7405											
ATP7B	0	.	GRCh38	chr13	51968537	51968537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgagctatctcgaggggCtggatgacctctgggtcata	9	10	13	9	1	3	2	1	2	2	0	4	4	3	3	1	4	2	2	1	4	3	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1614G>T	p.Gln538His	p.Q538H	ENST00000242839	4/21	510	467	43	414	413	1	strelka-varscan-mutect	ATP7B,missense_variant,p.Gln538His,ENST00000242839,NM_000053.3;ATP7B,missense_variant,p.Gln538His,ENST00000448424,;ATP7B,missense_variant,p.Gln427His,ENST00000400366,NM_001243182.1;ATP7B,missense_variant,p.Gln538His,ENST00000344297,NM_001005918.2;ATP7B,missense_variant,p.Gln538His,ENST00000634844,;ATP7B,missense_variant,p.Gln538His,ENST00000418097,;ATP7B,intron_variant,,ENST00000400370,;ATP7B,non_coding_transcript_exon_variant,,ENST00000483772,;ATP7B,intron_variant,,ENST00000482841,;ATP7B,intron_variant,,ENST00000635406,;ATP7B,missense_variant,p.Gln538His,ENST00000634308,;ATP7B,non_coding_transcript_exon_variant,,ENST00000634620,;ATP7B,upstream_gene_variant,,ENST00000634296,;FABP5P2,downstream_gene_variant,,ENST00000439042,;	A	ENST00000242839	Transcript	missense_variant	1771/6638	1614/4398	538/1465	Q/H	caG/caT		1		-1	ATP7B	HGNC	HGNC:870	protein_coding	YES	CCDS41892.1	ENSP00000242839	P35670	A0A024RDX3	UPI00001FCE15	NM_000053.3	tolerated(0.07)		4/21		PROSITE_profiles:PS50846,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF326,Gene3D:3.30.70.100,Pfam_domain:PF00403,TIGRFAM_domain:TIGR00003,Superfamily_domains:SSF55008,Prints_domain:PR00942																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	51968537	51968537	C	A	1	0	0	0	0	1	0	0	0	1344	796	28	2		2	ATP7B	13	51968537	Missense_Mutation	SNP	C	C3L-00913_TP	13277951	51968537	62395791	170	7406											
CCDC168	0	.	GRCh38	chr13	102742105	102742105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatttttacttctgtaagCtttttaatgctagacacaca	11	17	4	9	0	1	1	0	0	1	1	2	1	2	1	1	0	3	3	1	0	4	9	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.8592G>C	p.Lys2864Asn	p.K2864N	ENST00000322527	4/4	290	271	19	248	248	0	strelka-varscan-mutect	CCDC168,missense_variant,p.Lys2864Asn,ENST00000322527,NM_001146197.1;LINC00283,upstream_gene_variant,,ENST00000430111,;	G	ENST00000322527	Transcript	missense_variant	8730/21466	8592/21246	2864/7081	K/N	aaG/aaC		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	deleterious(0.04)		4/4		Pfam_domain:PF15804																	MODERATE	1	SNV	3			1										PASS		.	.												G	3	3	21	102742105	102742105	C	G	1	0	0	0	0	1	0	0	0	2484	796	28	4		4	CCDC168	13	102742105	Missense_Mutation	SNP	C	C3L-00913_TP	50773568	102742105	11622223	171	7407											
RALGAPA1	0	.	GRCh38	chr14	35595660	35595660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcaaagaatcatcagaatCagaaggcattcttgttgaca	15	10	9	7	0	5	4	4	1	1	3	5	4	5	4	0	2	0	2	0	2	4	3	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.5665G>A	p.Asp1889Asn	p.D1889N	ENST00000307138	36/40	447	420	27	365	364	1	strelka-varscan-mutect	RALGAPA1,missense_variant,p.Asp2348Asn,ENST00000637992,;RALGAPA1,missense_variant,p.Asp1889Asn,ENST00000307138,NM_194301.2;RALGAPA1,missense_variant,p.Asp1889Asn,ENST00000389698,NM_014990.1;RALGAPA1,missense_variant,p.Asp1902Asn,ENST00000382366,NM_001283043.1;RALGAPA1,missense_variant,p.Asp1936Asn,ENST00000553892,NM_001283044.1;RALGAPA1,missense_variant,p.Asp527Asn,ENST00000554259,;RALGAPA1,missense_variant,p.Asp172Asn,ENST00000554573,;	T	ENST00000307138	Transcript	missense_variant	6134/7911	5665/6252	1889/2083	D/N	Gat/Aat		1		-1	RALGAPA1	HGNC	HGNC:17770	protein_coding	YES	CCDS32064.1	ENSP00000302647	Q6GYQ0		UPI00003B5C51	NM_194301.2	tolerated(0.06)		36/40		PROSITE_profiles:PS50085,hmmpanther:PTHR10063:SF3,hmmpanther:PTHR10063,Pfam_domain:PF02145,Superfamily_domains:0043732																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	35595660	35595660	C	T	1	0	0	0	0	1	0	0	0	13172	826	29	3		3	RALGAPA1	14	35595660	Missense_Mutation	SNP	C	C3L-00913_TP		35595660	71448058	172	7408											
LRFN5	0	.	GRCh38	chr14	41886863	41886863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgaccagcttggtggacCtgactctatccaggaataca	12	10	9	10	0	1	2	0	2	1	0	2	4	2	4	3	3	2	1	3	3	4	4	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.238C>A	p.Leu80Met	p.L80M	ENST00000298119	3/6	185	166	19	158	158	0	strelka-varscan-mutect	LRFN5,missense_variant,p.Leu80Met,ENST00000554171,;LRFN5,missense_variant,p.Leu80Met,ENST00000298119,NM_152447.3;LRFN5,missense_variant,p.Leu80Met,ENST00000554120,;	A	ENST00000298119	Transcript	missense_variant	1427/3723	238/2160	80/719	L/M	Ctg/Atg		1		1	LRFN5	HGNC	HGNC:20360	protein_coding	YES	CCDS9678.1	ENSP00000298119	Q96NI6		UPI000000DA1E	NM_152447.3	deleterious(0.01)		3/6		PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,Pfam_domain:PF13306,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	41886863	41886863	C	A	1	0	0	0	0	1	0	0	0	8835	680	24	2		2	LRFN5	14	41886863	Missense_Mutation	SNP	C	C3L-00913_TP	6291203	41886863	65156855	173	7409											
CCDC175	0	.	GRCh38	chr14	59545185	59545185	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcatgaatcttttgtttttGcaaaaaagctttttcttcct	10	20	4	7	0	3	1	1	1	2	0	4	1	4	1	1	0	2	3	1	0	4	7	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1150C>T	p.Gln384Ter	p.Q384*	ENST00000537690	9/20	199	159	40	142	141	1	strelka-varscan-mutect	CCDC175,stop_gained,p.Gln384Ter,ENST00000537690,NM_001164399.1;CCDC175,stop_gained,p.Gln384Ter,ENST00000281581,;CCDC175,intron_variant,,ENST00000556936,;	A	ENST00000537690	Transcript	stop_gained	1206/2616	1150/2382	384/793	Q/*	Caa/Taa		1		-1	CCDC175	HGNC	HGNC:19847	protein_coding	YES	CCDS53898.1	ENSP00000453940	P0C221		UPI000059D254	NM_001164399.1			9/20		hmmpanther:PTHR35347																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	21	59545185	59545185	G	A	1	0	0	0	0	0	1	0	0	2492	1328	46	3		3	CCDC175	14	59545185	Nonsense_Mutation	SNP	G	C3L-00913_TP	17658322	59545185	47498533	174	7410											
VIPAS39	0	.	GRCh38	chr14	77453318	77453318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcccacaggttccccactCcagctgactcgctccaggtc	6	9	7	19	1	0	1	0	1	0	0	6	1	4	1	5	2	1	3	5	2	0	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.177G>T	p.Trp59Cys	p.W59C	ENST00000553888	3/20	657	565	92	464	464	0	strelka-varscan-mutect	VIPAS39,missense_variant,p.Trp59Cys,ENST00000553888,NM_022067.3,NM_001193314.1,NM_001193317.1;VIPAS39,missense_variant,p.Trp59Cys,ENST00000343765,;VIPAS39,missense_variant,p.Trp59Cys,ENST00000327028,;VIPAS39,missense_variant,p.Trp59Cys,ENST00000557658,NM_001193315.1;VIPAS39,missense_variant,p.Trp85Cys,ENST00000556412,;VIPAS39,missense_variant,p.Trp59Cys,ENST00000448935,NM_001193316.1;AHSA1,upstream_gene_variant,,ENST00000216479,NM_012111.2;AHSA1,upstream_gene_variant,,ENST00000535854,;AHSA1,upstream_gene_variant,,ENST00000555133,;AHSA1,upstream_gene_variant,,ENST00000555517,;VIPAS39,downstream_gene_variant,,ENST00000557466,;VIPAS39,downstream_gene_variant,,ENST00000556909,;VIPAS39,non_coding_transcript_exon_variant,,ENST00000553691,;AHSA1,upstream_gene_variant,,ENST00000556963,;AHSA1,upstream_gene_variant,,ENST00000554156,;	A	ENST00000553888	Transcript	missense_variant	688/2934	177/1482	59/493	W/C	tgG/tgT		1		-1	VIPAS39	HGNC	HGNC:20347	protein_coding	YES	CCDS9862.1	ENSP00000452181	Q9H9C1	Q6IA61	UPI00000735EF	NM_022067.3,NM_001193314.1,NM_001193317.1	deleterious(0)		3/20		hmmpanther:PTHR13364,hmmpanther:PTHR13364:SF6																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	21	77453318	77453318	C	A	1	0	0	0	0	1	0	0	0	17715	856	30	2		2	VIPAS39	14	77453318	Missense_Mutation	SNP	C	C3L-00913_TP	17908133	77453318	29590400	175	7411											
CEP170B	0	.	GRCh38	chr14	104886067	104886067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggtgccgggctcccctgggGgtcagaagtgggtgtcccgc	3	7	18	13	3	1	1	1	0	0	1	3	1	3	1	4	5	1	1	4	5	1	0	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1972G>T	p.Gly658Cys	p.G658C	ENST00000414716	11/19	66	54	12	35	35	0	strelka-varscan-mutect	CEP170B,missense_variant,p.Gly659Cys,ENST00000453495,;CEP170B,missense_variant,p.Gly658Cys,ENST00000414716,NM_001112726.2;CEP170B,missense_variant,p.Gly588Cys,ENST00000556508,NM_015005.2;	T	ENST00000414716	Transcript	missense_variant	2200/6705	1972/4665	658/1554	G/C	Ggt/Tgt		1		1	CEP170B	HGNC	HGNC:20362	protein_coding	YES	CCDS45175.1	ENSP00000404151	Q9Y4F5		UPI00001FDCF7	NM_001112726.2	deleterious(0)		11/19		hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF18																	MODERATE	1	SNV	1			1										PASS		rs1316601109	.												T	3	4	21	104886067	104886067	G	T	1	0	0	0	0	1	0	0	0	2965	1232	43	2		2	CEP170B	14	104886067	Missense_Mutation	SNP	G	C3L-00913_TP	27432749	104886067	2157651	176	7412											
GABRG3	0	.	GRCh38	chr15	26977093	26977093	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagacaccgacgtgactCttattctcaacaagttgcta	12	10	6	13	2	2	2	1	1	2	1	3	3	2	2	2	0	2	2	2	0	5	4	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.145C>A	p.Leu49Ile	p.L49I	ENST00000615808	2/10	243	226	17	175	175	0	strelka-mutect	GABRG3,missense_variant,p.Leu49Ile,ENST00000615808,NM_033223.4;GABRG3,missense_variant,p.Leu49Ile,ENST00000555083,NM_001270873.1;GABRG3,non_coding_transcript_exon_variant,,ENST00000553440,;	A	ENST00000615808	Transcript	missense_variant	399/10768	145/1404	49/467	L/I	Ctt/Att		1		1	GABRG3	HGNC	HGNC:4088	protein_coding	YES	CCDS45195.1	ENSP00000479113	Q99928		UPI000012AFCB	NM_033223.4	tolerated(0.2)		2/10		Superfamily_domains:0038932,Prints_domain:PR01620,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF195,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	26977093	26977093	C	A	1	0	0	0	0	1	0	0	0	6044	913	32	2		2	GABRG3	15	26977093	Missense_Mutation	SNP	C	C3L-00913_TP		26977093	75014096	177	7413											
PLA2G4D	0	.	GRCh38	chr15	42072351	42072351	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagagggttctgaccccgTtccagggcggctctctgtcc	4	9	14	14	2	2	2	0	1	2	1	5	2	4	2	4	4	0	4	4	4	0	2	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.1359A>T	p.Glu453Asp	p.E453D	ENST00000290472	14/20	183	161	22	137	137	0	strelka-varscan-mutect	PLA2G4D,missense_variant,p.Glu453Asp,ENST00000290472,NM_178034.3;PLA2G4D,upstream_gene_variant,,ENST00000560932,;	A	ENST00000290472	Transcript	missense_variant	1454/3584	1359/2457	453/818	E/D	gaA/gaT		1		-1	PLA2G4D	HGNC	HGNC:30038	protein_coding	YES	CCDS32203.1	ENSP00000290472	Q86XP0		UPI00001FE2F2	NM_178034.3	tolerated(0.44)		14/20		Gene3D:3.40.1090.10,Pfam_domain:PF01735,PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF31,SMART_domains:SM00022,Superfamily_domains:SSF52151																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	42072351	42072351	T	A	1	0	0	0	0	1	0	0	0	12100	1722	60	4		4	PLA2G4D	15	42072351	Missense_Mutation	SNP	T	C3L-00913_TP	15095258	42072351	59918838	178	7414											
CYP19A1	0	.	GRCh38	chr15	51227788	51227788	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacctgcttacctttcataaAgaagggtcgagttgttttcc	9	15	8	9	1	1	1	1	0	0	1	3	2	2	1	3	1	3	3	3	1	5	7	novel		C3L-00913_TP	C3L-00913_NB	A	A																c.442T>G	p.Phe148Val	p.F148V	ENST00000396402	4/10	460	407	53	287	286	1	strelka-varscan-mutect	CYP19A1,missense_variant,p.Phe148Val,ENST00000396402,NM_000103.3;CYP19A1,missense_variant,p.Phe148Val,ENST00000396404,NM_031226.2;CYP19A1,missense_variant,p.Phe148Val,ENST00000559878,;CYP19A1,missense_variant,p.Phe148Val,ENST00000405913,;CYP19A1,missense_variant,p.Phe148Val,ENST00000453807,;CYP19A1,missense_variant,p.Phe148Val,ENST00000558328,;CYP19A1,missense_variant,p.Phe148Val,ENST00000559980,;CYP19A1,missense_variant,p.Phe148Val,ENST00000561075,;CYP19A1,missense_variant,p.Phe148Val,ENST00000557858,;CYP19A1,missense_variant,p.Phe148Val,ENST00000405011,;CYP19A1,missense_variant,p.Phe148Val,ENST00000559646,;RP11-108K3.1,intron_variant,,ENST00000559909,;CYP19A1,missense_variant,p.Phe148Val,ENST00000439712,;CYP19A1,missense_variant,p.Phe148Val,ENST00000557934,;	C	ENST00000396402	Transcript	missense_variant	596/4417	442/1512	148/503	F/V	Ttt/Gtt		1		-1	CYP19A1	HGNC	HGNC:2594	protein_coding	YES	CCDS10139.1	ENSP00000379683	P11511	A0A024R5S8	UPI000013D0D7	NM_000103.3	deleterious(0)		4/10		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF43,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	21	51227788	51227788	A	C	1	0	0	0	0	1	0	0	0	3951	72	3	5		5	CYP19A1	15	51227788	Missense_Mutation	SNP	A	C3L-00913_TP	9155437	51227788	50763401	179	7415											
SCAPER	0	.	GRCh38	chr15	76705978	76705978	+	Missense_Mutation	SNP	C	C	A																															agtgctgccaatcgttcttcCctgtctctgtaagaagacag																								novel		C3L-00913_TP	C3L-00913_NB	C	C																c.2172G>T	p.Arg724Ser	p.R724S	ENST00000563290	18/32	195	177	18	169	169	0	strelka-varscan-mutect	SCAPER,missense_variant,p.Arg724Ser,ENST00000563290,;SCAPER,missense_variant,p.Arg478Ser,ENST00000538941,NM_001145923.1;SCAPER,missense_variant,p.Arg724Ser,ENST00000324767,NM_020843.2;SCAPER,missense_variant,p.Arg730Ser,ENST00000564590,;SCAPER,missense_variant,p.Arg730Ser,ENST00000565970,;SCAPER,3_prime_UTR_variant,,ENST00000565507,;SCAPER,non_coding_transcript_exon_variant,,ENST00000303521,;	A	ENST00000563290	Transcript	missense_variant	2268/5028	2172/4203	724/1400	R/S	agG/agT		1		-1	SCAPER	HGNC	HGNC:13081	protein_coding	YES	CCDS53962.1	ENSP00000454973	Q9BY12		UPI0000E59CC3		deleterious(0)		18/32		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31434:SF2,hmmpanther:PTHR31434																	MODERATE	1	SNV	5			1										PASS		rs1413392601	.												A	3	1	21	76705978	76705978	C	A	1	0	0	0	0	1	0	0	0	14144	622	22	2		2	SCAPER	15	76705978	Missense_Mutation	SNP	C	C3L-00913_TP	25478190	76705978	25285211	180	7416	169	2									
SCAPER	0	.	GRCh38	chr15	76705979	76705979	+	Missense_Mutation	SNP	C	C	T																															gtgctgccaatcgttcttccCtgtctctgtaagaagacagt																								novel		C3L-00913_TP	C3L-00913_NB	C	C																c.2171G>A	p.Arg724Lys	p.R724K	ENST00000563290	18/32	193	176	17	168	168	0	strelka-varscan-mutect	SCAPER,missense_variant,p.Arg724Lys,ENST00000563290,;SCAPER,missense_variant,p.Arg478Lys,ENST00000538941,NM_001145923.1;SCAPER,missense_variant,p.Arg724Lys,ENST00000324767,NM_020843.2;SCAPER,missense_variant,p.Arg730Lys,ENST00000564590,;SCAPER,missense_variant,p.Arg730Lys,ENST00000565970,;SCAPER,3_prime_UTR_variant,,ENST00000565507,;SCAPER,non_coding_transcript_exon_variant,,ENST00000303521,;	T	ENST00000563290	Transcript	missense_variant	2267/5028	2171/4203	724/1400	R/K	aGg/aAg		1		-1	SCAPER	HGNC	HGNC:13081	protein_coding	YES	CCDS53962.1	ENSP00000454973	Q9BY12		UPI0000E59CC3		deleterious(0.01)		18/32		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31434:SF2,hmmpanther:PTHR31434																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	21	76705979	76705979	C	T	1	0	0	0	0	1	0	0	0	14144	695	24	3		3	SCAPER	15	76705979	Missense_Mutation	SNP	C	C3L-00913_TP	1	76705979	25285210	181	7417	169	2									
CEMIP	0	.	GRCh38	chr15	80942015	80942015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaccgagagggctgtcgtaGacgtgccgatgcccaagaag	10	6	14	11	4	1	3	1	0	0	3	2	5	1	3	3	1	2	2	3	1	3	1	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.3574G>A	p.Asp1192Asn	p.D1192N	ENST00000394685	26/30	480	416	64	387	387	0	strelka-varscan-mutect	CEMIP,missense_variant,p.Asp1192Asn,ENST00000394685,NM_001293298.1;CEMIP,missense_variant,p.Asp1192Asn,ENST00000356249,NM_001293304.1;CEMIP,missense_variant,p.Asp1192Asn,ENST00000220244,NM_018689.2;CEMIP,intron_variant,,ENST00000611615,;CEMIP,downstream_gene_variant,,ENST00000560027,;RP11-351M8.2,intron_variant,,ENST00000560873,;CEMIP,intron_variant,,ENST00000495041,;MESDC2,downstream_gene_variant,,ENST00000619987,;CEMIP,upstream_gene_variant,,ENST00000559966,;	A	ENST00000394685	Transcript	missense_variant	3993/7357	3574/4086	1192/1361	D/N	Gac/Aac		1		1	CEMIP	HGNC	HGNC:29213	protein_coding	YES	CCDS10315.1	ENSP00000378177	Q8WUJ3		UPI00001D7799	NM_001293298.1	tolerated(0.51)		26/30		hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	80942015	80942015	G	A	1	0	0	0	0	1	0	0	0	2931	942	33	3		3	CEMIP	15	80942015	Missense_Mutation	SNP	G	C3L-00913_TP	4236036	80942015	21049174	182	7418											
AGBL1	0	.	GRCh38	chr15	86397423	86397423	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggagagagcaatgccaGttgggtgatgaagggtacct	11	8	15	7	0	0	3	0	2	0	1	1	5	1	4	3	3	3	3	3	3	3	2	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.2432G>T	p.Ser811Ile	p.S811I	ENST00000441037	18/25	161	140	21	127	127	0	strelka-varscan-mutect	AGBL1,missense_variant,p.Ser31Ile,ENST00000614907,;AGBL1,missense_variant,p.Ser811Ile,ENST00000441037,;AGBL1,missense_variant,p.Ser765Ile,ENST00000635782,NM_152336.2;AGBL1,missense_variant,p.Ser765Ile,ENST00000421325,;	T	ENST00000441037	Transcript	missense_variant	2432/3551	2432/3339	811/1112	S/I	aGt/aTt		1		1	AGBL1	Clone_based_vega_gene	HGNC:26504	protein_coding	YES		ENSP00000413001	Q96MI9		UPI000387C1D9		deleterious(0)		18/25		Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF5,Superfamily_domains:SSF53187																	MODERATE	1	SNV	5			1										PASS		rs765741949	.												T	3	4	21	86397423	86397423	G	T	1	0	0	0	0	1	0	0	0	451	1029	36	2		2	AGBL1	15	86397423	Missense_Mutation	SNP	G	C3L-00913_TP	5455408	86397423	15593766	183	7419											
LRRK1	0	.	GRCh38	chr15	101066155	101066155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggagaccttcagccagcaCctgcaggccgtgaagatcct	9	6	13	13	1	1	3	1	1	0	2	2	4	2	3	5	3	3	2	5	3	1	1	rs373703455		C3L-00913_TP	C3L-00913_NB	C	C																c.5718C>A	p.His1906Gln	p.H1906Q	ENST00000388948	32/34	150	134	16	118	118	0	strelka-varscan-mutect	LRRK1,missense_variant,p.His1906Gln,ENST00000388948,NM_024652.4;RP11-505E24.2,intron_variant,,ENST00000559857,;LRRK1,non_coding_transcript_exon_variant,,ENST00000532145,;LRRK1,downstream_gene_variant,,ENST00000525395,;LRRK1,missense_variant,p.His583Gln,ENST00000526457,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;	A	ENST00000388948	Transcript	missense_variant	6077/7671	5718/6048	1906/2015	H/Q	caC/caA	rs373703455	1		1	LRRK1	HGNC	HGNC:18608	protein_coding	YES	CCDS42086.1	ENSP00000373600	Q38SD2		UPI0000D4FE63	NM_024652.4	tolerated_low_confidence(0.07)		32/34		hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF498																	MODERATE		SNV	5			1										PASS		rs373703455	.												A	3	1	21	101066155	101066155	C	A	1	0	0	0	0	1	0	0	0	8938	506	18	2		2	LRRK1	15	101066155	Missense_Mutation	SNP	C	C3L-00913_TP	14668732	101066155	925034	184	7420											
RAB11FIP3	0	.	GRCh38	chr16	488916	488916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagcactttgaggactacgGtgaaggcagtgaggcggagc	10	6	18	7	2	0	3	0	3	0	0	0	6	0	6	0	6	3	2	0	6	2	2	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1181G>T	p.Gly394Val	p.G394V	ENST00000262305	5/14	261	229	32	178	178	0	strelka-varscan-mutect	RAB11FIP3,missense_variant,p.Gly394Val,ENST00000262305,NM_014700.3;RAB11FIP3,missense_variant,p.Gly270Val,ENST00000434585,;RAB11FIP3,missense_variant,p.Gly98Val,ENST00000450428,NM_001142272.1;RAB11FIP3,missense_variant,p.Gly84Val,ENST00000452814,;RAB11FIP3,missense_variant,p.Gly98Val,ENST00000449879,;RAB11FIP3,missense_variant,p.Gly49Val,ENST00000412256,;RAB11FIP3,non_coding_transcript_exon_variant,,ENST00000483002,;RAB11FIP3,upstream_gene_variant,,ENST00000495663,;	T	ENST00000262305	Transcript	missense_variant	1569/4831	1181/2271	394/756	G/V	gGt/gTt		1		1	RAB11FIP3	HGNC	HGNC:17224	protein_coding	YES	CCDS32351.1	ENSP00000262305	O75154		UPI0000129C9C	NM_014700.3	deleterious(0)		5/14		hmmpanther:PTHR15726,hmmpanther:PTHR15726:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	488916	488916	G	T	1	0	0	0	0	1	0	0	0	13053	1261	44	2		2	RAB11FIP3	16	488916	Missense_Mutation	SNP	G	C3L-00913_TP		488916	89849429	185	7421											
MSLN	0	.	GRCh38	chr16	763263	763263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccctcgaggaccctggctgGagagacagggcaggtaaggt	9	5	17	10	1	0	1	0	0	0	1	1	5	0	3	2	6	0	3	2	6	1	1	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.116G>T	p.Gly39Val	p.G39V	ENST00000382862	3/17	166	157	9	134	134	0	strelka-varscan-mutect	MSLN,missense_variant,p.Gly39Val,ENST00000566549,;MSLN,missense_variant,p.Gly39Val,ENST00000545450,NM_005823.5;MSLN,missense_variant,p.Gly39Val,ENST00000382862,NM_013404.4;MSLN,missense_variant,p.Gly39Val,ENST00000563941,NM_001177355.1;MSLN,missense_variant,p.Gly39Val,ENST00000563651,;MSLN,missense_variant,p.Gly39Val,ENST00000569566,;MSLN,upstream_gene_variant,,ENST00000561896,;MSLN,upstream_gene_variant,,ENST00000566269,;	T	ENST00000382862	Transcript	missense_variant	211/2116	116/1893	39/630	G/V	gGa/gTa		1		1	MSLN	HGNC	HGNC:7371	protein_coding	YES	CCDS32356.1	ENSP00000372313	Q13421		UPI000004EC9C	NM_013404.4	tolerated(0.42)		3/17		hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF6,Pfam_domain:PF06060																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	21	763263	763263	G	T	1	0	0	0	0	1	0	0	0	9863	1174	41	2		2	MSLN	16	763263	Missense_Mutation	SNP	G	C3L-00913_TP	274347	763263	89575082	186	7422											
ADCY9	0	.	GRCh38	chr16	3965890	3965890	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccctttcttcggctttgAcgggctccttccacggtctc	3	13	9	16	3	2	1	0	1	2	0	6	2	4	1	4	3	0	2	4	3	0	4	novel		C3L-00913_TP	C3L-00913_NB	A	A																c.3947T>G	p.Val1316Gly	p.V1316G	ENST00000294016	11/11	456	433	23	312	311	1	strelka-varscan	ADCY9,missense_variant,p.Val1316Gly,ENST00000294016,NM_001116.3;ADCY9,intron_variant,,ENST00000576936,;	C	ENST00000294016	Transcript	missense_variant	4486/7725	3947/4062	1316/1353	V/G	gTc/gGc		1		-1	ADCY9	HGNC	HGNC:240	protein_coding	YES	CCDS32382.1	ENSP00000294016	O60503		UPI000012887F	NM_001116.3	tolerated_low_confidence(0.5)		11/11																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	21	3965890	3965890	A	C	1	0	0	0	0	1	0	0	0	345	275	10	5		5	ADCY9	16	3965890	Missense_Mutation	SNP	A	C3L-00913_TP	3202627	3965890	86372455	187	7423											
MGRN1	0	.	GRCh38	chr16	4625008	4625008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggggtggaggacatcgaCatccaggcgaactcggccta	9	5	16	11	4	0	0	0	0	0	0	3	4	1	2	2	6	1	0	2	6	2	1	rs773522921		C3L-00913_TP	C3L-00913_NB	C	C																c.48C>G	p.Asp16Glu	p.D16E	ENST00000262370	1/17	342	323	19	232	232	0	strelka-varscan-mutect	MGRN1,missense_variant,p.Asp16Glu,ENST00000399577,NM_001142290.2;MGRN1,missense_variant,p.Asp16Glu,ENST00000415496,NM_001142291.2;MGRN1,missense_variant,p.Asp16Glu,ENST00000262370,NM_015246.3;MGRN1,missense_variant,p.Asp16Glu,ENST00000587747,;MGRN1,missense_variant,p.Asp16Glu,ENST00000586183,;MGRN1,missense_variant,p.Asp16Glu,ENST00000588994,NM_001142289.2;MGRN1,intron_variant,,ENST00000591895,;MGRN1,missense_variant,p.Asp16Glu,ENST00000536343,;	G	ENST00000262370	Transcript	missense_variant	219/3968	48/1731	16/576	D/E	gaC/gaG	rs773522921	1		1	MGRN1	HGNC	HGNC:20254	protein_coding	YES	CCDS42115.1	ENSP00000262370	O60291		UPI000018CE7F	NM_015246.3	tolerated(0.09)		1/17		hmmpanther:PTHR22996,hmmpanther:PTHR22996:SF2																	MODERATE	1	SNV	1			1										PASS		rs773522921	.												G	3	3	21	4625008	4625008	C	G	1	0	0	0	0	1	0	0	0	9516	477	17	4		4	MGRN1	16	4625008	Missense_Mutation	SNP	C	C3L-00913_TP	659118	4625008	85713337	188	7424											
ITGAM	0	.	GRCh38	chr16	31277980	31277980	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaggttatgctgccgcCatcatcttacggaaccgggt	7	11	10	13	3	3	0	2	0	1	0	3	1	3	1	4	3	4	2	4	3	3	3	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1227C>A	p.=	p.A409A	ENST00000544665	12/30	145	129	16	103	103	0	strelka-varscan-mutect	ITGAM,synonymous_variant,p.=,ENST00000544665,NM_001145808.1;ITGAM,synonymous_variant,p.=,ENST00000287497,NM_000632.3;ITGAM,intron_variant,,ENST00000567031,;ITGAM,downstream_gene_variant,,ENST00000570242,;	A	ENST00000544665	Transcript	synonymous_variant	1298/4718	1227/3462	409/1153	A	gcC/gcA		1		1	ITGAM	HGNC	HGNC:6149	protein_coding	YES	CCDS54004.1	ENSP00000441691	P11215		UPI000004B26A	NM_001145808.1			12/30		Gene3D:3nigC00,Prints_domain:PR01185,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,SMART_domains:SM00191,Superfamily_domains:SSF69318																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	21	31277980	31277980	C	A	1	0	0	0	0	0	0	0	1	7794	581	21	2		2	ITGAM	16	31277980	Silent	SNP	C	C3L-00913_TP	26652972	31277980	59060365	189	7425											
RPGRIP1L	0	.	GRCh38	chr16	53645952	53645952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttcatttaagttgccatCtgtggaatctgtagaactga	12	14	9	6	0	3	2	1	1	2	1	3	3	3	3	1	1	2	3	1	1	5	5	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.2356G>A	p.Asp786Asn	p.D786N	ENST00000379925	17/27	323	294	29	295	294	1	strelka-varscan-mutect	RPGRIP1L,missense_variant,p.Asp786Asn,ENST00000262135,NM_001127897.1;RPGRIP1L,missense_variant,p.Asp786Asn,ENST00000621565,NM_001308334.1;RPGRIP1L,missense_variant,p.Asp786Asn,ENST00000379925,NM_015272.2;RPGRIP1L,missense_variant,p.Asp786Asn,ENST00000563746,;RPGRIP1L,missense_variant,p.Asp786Asn,ENST00000564374,;	T	ENST00000379925	Transcript	missense_variant	2407/5297	2356/3948	786/1315	D/N	Gat/Aat		1		-1	RPGRIP1L	HGNC	HGNC:29168	protein_coding	YES	CCDS32447.1	ENSP00000369257	Q68CZ1		UPI000047DAF2	NM_015272.2	deleterious(0.02)		17/27		hmmpanther:PTHR14240:SF4,hmmpanther:PTHR14240,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	53645952	53645952	C	T	1	0	0	0	0	1	0	0	0	13802	913	32	3		3	RPGRIP1L	16	53645952	Missense_Mutation	SNP	C	C3L-00913_TP	22367972	53645952	36692393	190	7426											
COQ9	0	.	GRCh38	chr16	57456519	57456519	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtctctgggtctctccAgtgcagcagccagcatgttc	6	12	11	12	0	2	0	0	0	2	0	6	0	3	0	2	1	4	5	2	1	1	2	novel		C3L-00913_TP	C3L-00913_NB	A	A																c.394A>C	p.Ser132Arg	p.S132R	ENST00000262507	4/9	648	609	39	450	450	0	strelka-varscan-mutect	COQ9,missense_variant,p.Ser132Arg,ENST00000262507,NM_020312.3;COQ9,missense_variant,p.Ser132Arg,ENST00000567072,;COQ9,missense_variant,p.Ser136Arg,ENST00000564655,;COQ9,5_prime_UTR_variant,,ENST00000563391,;COQ9,intron_variant,,ENST00000567933,;COQ9,intron_variant,,ENST00000565964,;COQ9,intron_variant,,ENST00000563166,;COQ9,downstream_gene_variant,,ENST00000567384,;AC009052.12,upstream_gene_variant,,ENST00000567090,;COQ9,missense_variant,p.Ser132Arg,ENST00000564115,;COQ9,non_coding_transcript_exon_variant,,ENST00000562734,;COQ9,non_coding_transcript_exon_variant,,ENST00000568790,;COQ9,non_coding_transcript_exon_variant,,ENST00000562426,;COQ9,non_coding_transcript_exon_variant,,ENST00000567576,;COQ9,non_coding_transcript_exon_variant,,ENST00000567480,;COQ9,downstream_gene_variant,,ENST00000566388,;COQ9,upstream_gene_variant,,ENST00000569980,;	C	ENST00000262507	Transcript	missense_variant	463/1677	394/957	132/318	S/R	Agt/Cgt		1		1	COQ9	HGNC	HGNC:25302	protein_coding	YES	CCDS32459.1	ENSP00000262507	O75208	A0A024R6U3	UPI0000070ECA	NM_020312.3	tolerated(0.16)		4/9		Low_complexity_(Seg):seg,hmmpanther:PTHR21427,TIGRFAM_domain:TIGR02396																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	21	57456519	57456519	A	C	1	0	0	0	0	1	0	0	0	3545	188	7	5		5	COQ9	16	57456519	Missense_Mutation	SNP	A	C3L-00913_TP	3810567	57456519	32881826	191	7427											
ADGRG5	0	.	GRCh38	chr16	57575041	57575041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccttcttttcttttggcGtcttcctgctgccccagctg	1	17	9	14	1	3	0	0	0	3	0	4	0	4	0	4	2	3	2	4	2	0	6	rs570246683		C3L-00913_TP	C3L-00913_NB	G	G																c.1435G>T	p.Val479Phe	p.V479F	ENST00000340339	11/12	178	166	12	154	154	0	strelka-varscan-mutect	ADGRG5,missense_variant,p.Val479Phe,ENST00000340339,NM_153837.2;ADGRG5,missense_variant,p.Val479Phe,ENST00000349457,NM_001304376.1;ADGRG5,non_coding_transcript_exon_variant,,ENST00000394361,;ADGRG5,non_coding_transcript_exon_variant,,ENST00000569839,;ADGRG5,non_coding_transcript_exon_variant,,ENST00000564607,;	T	ENST00000340339	Transcript	missense_variant	1958/3767	1435/1587	479/528	V/F	Gtc/Ttc	rs570246683	1		1	ADGRG5	HGNC	HGNC:19010	protein_coding	YES	CCDS10785.1	ENSP00000342981	Q8IZF4	A0A024R6S3	UPI0000039944	NM_153837.2	deleterious(0)		11/12		Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF326,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs570246683	.												T	3	4	21	57575041	57575041	G	T	1	0	0	0	0	1	0	0	0	372	1145	40	1		1	ADGRG5	16	57575041	Missense_Mutation	SNP	G	C3L-00913_TP	118522	57575041	32763304	192	7428											
TRADD	0	.	GRCh38	chr16	67154746	67154746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaccaggcgctgcagcGtggcgcggcggccctcggcc	3	4	15	19	6	0	0	0	0	0	0	2	0	1	0	5	5	2	2	5	5	0	0			C3L-00913_TP	C3L-00913_NB	G	G																c.842C>T	p.Thr281Met	p.T281M	ENST00000345057	5/5	215	195	20	149	149	0	strelka-varscan-mutect	TRADD,missense_variant,p.Thr281Met,ENST00000345057,NM_003789.3;TRADD,missense_variant,p.Thr221Met,ENST00000486556,;B3GNT9,upstream_gene_variant,,ENST00000449549,NM_033309.2;TRADD,downstream_gene_variant,,ENST00000566104,;TRADD,downstream_gene_variant,,ENST00000563348,;TRADD,downstream_gene_variant,,ENST00000566247,;	A	ENST00000345057	Transcript	missense_variant	1311/1877	842/939	281/312	T/M	aCg/aTg	COSM703896	1		-1	TRADD	HGNC	HGNC:12030	protein_coding	YES	CCDS10829.1	ENSP00000341268	Q15628		UPI00001372E3	NM_003789.3	deleterious(0)		5/5		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50017,hmmpanther:PTHR14913,Pfam_domain:PF00531,Gene3D:1.10.533.10,SMART_domains:SM00005,Superfamily_domains:SSF47986											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	21	67154746	67154746	G	A	1	0	0	0	0	1	0	0	0	16919	1145	40	1		1	TRADD	16	67154746	Missense_Mutation	SNP	G	C3L-00913_TP	9579705	67154746	23183599	193	7429											
COG4	0	.	GRCh38	chr16	70496371	70496371	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcacttgtcaccccgcgCtggatgtcctggaaggtggt	6	9	14	12	3	1	0	1	0	0	0	2	2	2	2	3	5	0	2	3	5	1	1	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1542G>T	p.Gln514His	p.Q514H	ENST00000323786	12/19	564	508	56	364	364	0	strelka-varscan-mutect	COG4,missense_variant,p.Gln514His,ENST00000323786,NM_015386.2;COG4,missense_variant,p.Gln514His,ENST00000393612,NM_001195139.1;COG4,3_prime_UTR_variant,,ENST00000564415,;COG4,3_prime_UTR_variant,,ENST00000482252,;COG4,non_coding_transcript_exon_variant,,ENST00000530314,;COG4,non_coding_transcript_exon_variant,,ENST00000526700,;COG4,non_coding_transcript_exon_variant,,ENST00000564315,;COG4,downstream_gene_variant,,ENST00000567244,;	A	ENST00000323786	Transcript	missense_variant	1564/2833	1542/2370	514/789	Q/H	caG/caT		1		-1	COG4	HGNC	HGNC:18620	protein_coding	YES	CCDS10892.2	ENSP00000315775		J3KNI1	UPI000059D3B0	NM_015386.2	deleterious(0)		12/19		hmmpanther:PTHR24016:SF0,hmmpanther:PTHR24016																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	70496371	70496371	C	A	1	0	0	0	0	1	0	0	0	3448	796	28	2		2	COG4	16	70496371	Missense_Mutation	SNP	C	C3L-00913_TP	3341625	70496371	19841974	194	7430											
WDR59	0	.	GRCh38	chr16	74887751	74887751	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaaccagaagaggtaaagCtaggctacagaagggaagag	18	3	15	5	0	0	4	0	0	0	4	0	6	0	6	1	4	3	3	1	4	8	3	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.2351G>T	p.Ser784Ile	p.S784I	ENST00000262144	23/26	194	178	16	136	136	0	strelka-varscan-mutect	WDR59,missense_variant,p.Ser784Ile,ENST00000262144,NM_030581.3;WDR59,missense_variant,p.Ser99Ile,ENST00000563797,;WDR59,downstream_gene_variant,,ENST00000569229,;WDR59,upstream_gene_variant,,ENST00000569183,;WDR59,downstream_gene_variant,,ENST00000569788,;WDR59,downstream_gene_variant,,ENST00000563381,;WDR59,downstream_gene_variant,,ENST00000566924,;WDR59,downstream_gene_variant,,ENST00000567018,;WDR59,upstream_gene_variant,,ENST00000569968,;	A	ENST00000262144	Transcript	missense_variant	2482/5898	2351/2925	784/974	S/I	aGc/aTc		1		-1	WDR59	HGNC	HGNC:25706	protein_coding	YES	CCDS32488.1	ENSP00000262144	Q6PJI9		UPI000019839C	NM_030581.3	tolerated(0.17)		23/26		hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF116,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	21	74887751	74887751	C	A	1	0	0	0	0	1	0	0	0	17867	811	28	2		2	WDR59	16	74887751	Missense_Mutation	SNP	C	C3L-00913_TP	4391380	74887751	15450594	195	7431											
CHST5	0	.	GRCh38	chr16	75530366	75530366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagtgggcaactttagggaCccgggccctcatgcccatcc	7	7	13	14	1	1	0	1	0	0	0	2	2	2	2	4	4	2	1	4	4	2	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.19G>A	p.Val7Ile	p.V7I	ENST00000336257	3/3	85	77	8	71	71	0	strelka-varscan-mutect	CHST5,missense_variant,p.Val7Ile,ENST00000336257,NM_024533.4;CHST5,intron_variant,,ENST00000565039,;RP11-77K12.7,intron_variant,,ENST00000460606,;	T	ENST00000336257	Transcript	missense_variant	1414/3245	19/1236	7/411	V/I	Gtc/Atc		1		-1	CHST5	HGNC	HGNC:1973	protein_coding	YES	CCDS10919.1	ENSP00000338783	Q9GZS9		UPI000006EAEA	NM_024533.4	deleterious_low_confidence(0)		3/3																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	75530366	75530366	C	T	1	0	0	0	0	1	0	0	0	3167	507	18	3		3	CHST5	16	75530366	Missense_Mutation	SNP	C	C3L-00913_TP	642615	75530366	14807979	196	7432											
ADAD2	0	.	GRCh38	chr16	84194570	84194570	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgctacatccggagtcagCtggagaacccaggtaatgga	11	8	12	10	1	2	1	1	0	1	1	3	4	3	3	2	4	4	3	2	4	3	2	rs763776438		C3L-00913_TP	C3L-00913_NB	C	C																c.763C>G	p.Leu255Val	p.L255V	ENST00000268624	3/11	323	287	36	228	228	0	strelka-varscan-mutect	ADAD2,missense_variant,p.Leu255Val,ENST00000268624,NM_139174.3;ADAD2,missense_variant,p.Leu183Val,ENST00000315906,NM_001145400.1;ADAD2,missense_variant,p.Leu108Val,ENST00000567685,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000536986,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000565643,;RP11-486L19.2,non_coding_transcript_exon_variant,,ENST00000561900,;RP11-486L19.2,downstream_gene_variant,,ENST00000569834,;ADAD2,downstream_gene_variant,,ENST00000567413,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564430,;ADAD2,non_coding_transcript_exon_variant,,ENST00000566526,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564169,;ADAD2,non_coding_transcript_exon_variant,,ENST00000569221,;ADAD2,upstream_gene_variant,,ENST00000563849,;	G	ENST00000268624	Transcript	missense_variant	856/2283	763/1998	255/665	L/V	Ctg/Gtg	rs763776438	1		1	ADAD2	HGNC	HGNC:30714	protein_coding	YES	CCDS10944.1	ENSP00000268624	Q8NCV1		UPI000013D7CA	NM_139174.3	tolerated(0.1)		3/11		hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF106,Superfamily_domains:SSF54768																	MODERATE	1	SNV	2			1										PASS		rs763776438	.												G	3	3	21	84194570	84194570	C	G	1	0	0	0	0	1	0	0	0	276	796	28	4		4	ADAD2	16	84194570	Missense_Mutation	SNP	C	C3L-00913_TP	8664204	84194570	6143775	197	7433											
SLC43A2	0	.	GRCh38	chr17	1585927	1585927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgcactggttggcgtctttCtcctcgggctcctcggaggc	3	11	13	14	4	2	0	0	0	2	0	6	1	3	1	2	5	0	3	2	5	0	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1215G>C	p.Glu405Asp	p.E405D	ENST00000571650	11/15	357	319	38	314	314	0	strelka-varscan-mutect	SLC43A2,missense_variant,p.Glu401Asp,ENST00000301335,NM_001321364.1,NM_001321365.1,NM_152346.2;SLC43A2,missense_variant,p.Glu405Asp,ENST00000571650,NM_001284498.1;SLC43A2,missense_variant,p.Glu264Asp,ENST00000412517,NM_001284499.1;SLC43A2,downstream_gene_variant,,ENST00000574274,;SLC43A2,non_coding_transcript_exon_variant,,ENST00000572135,;SLC43A2,non_coding_transcript_exon_variant,,ENST00000574743,;SLC43A2,downstream_gene_variant,,ENST00000572801,;SLC43A2,upstream_gene_variant,,ENST00000576769,;	G	ENST00000571650	Transcript	missense_variant	1522/3261	1215/1722	405/573	E/D	gaG/gaC		1		-1	SLC43A2	HGNC	HGNC:23087	protein_coding	YES	CCDS67108.1	ENSP00000461382	Q8N370		UPI00004EAF8C	NM_001284498.1	tolerated(0.58)		11/15		hmmpanther:PTHR20766,hmmpanther:PTHR20766:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	21	1585927	1585927	C	G	1	0	0	0	0	1	0	0	0	14911	912	32	4		4	SLC43A2	17	1585927	Missense_Mutation	SNP	C	C3L-00913_TP		1585927	81671514	198	7434											
OR3A2	0	.	GRCh38	chr17	3278033	3278033	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgaacatcagggtttctGaggctgtagataagagggtt	10	11	13	7	0	2	4	1	2	1	2	2	4	2	4	1	3	1	4	1	3	3	4	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.903C>G	p.=	p.L301L	ENST00000408891	1/1	101	94	7	84	84	0	strelka-varscan-mutect	OR3A2,synonymous_variant,p.=,ENST00000408891,NM_002551.3;RP11-64J4.2,downstream_gene_variant,,ENST00000573491,;RP11-64J4.2,downstream_gene_variant,,ENST00000576166,;	C	ENST00000408891	Transcript	synonymous_variant	942/1076	903/966	301/321	L	ctC/ctG		1		-1	OR3A2	HGNC	HGNC:8283	protein_coding	YES	CCDS42233.1	ENSP00000386180	P47893	A0A126GVQ3	UPI0000050B3C	NM_002551.3			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF449,Superfamily_domains:SSF81321																	LOW		SNV				1										PASS		.	.												C	2	2	21	3278033	3278033	G	C	1	0	0	0	0	0	0	0	1	11115	1277	45	4		4	OR3A2	17	3278033	Silent	SNP	G	C3L-00913_TP	1692106	3278033	79979408	199	7435											
OR1E1	0	.	GRCh38	chr17	3397954	3397954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaacatggcatggaaggTggtcagcacccaggacagcg	11	6	15	9	1	1	0	1	0	0	0	1	2	1	2	1	5	3	3	1	5	2	1	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.457A>G	p.Thr153Ala	p.T153A	ENST00000322608	1/1	421	363	58	341	341	0	strelka-varscan-mutect	OR1E1,missense_variant,p.Thr153Ala,ENST00000322608,NM_003553.2;	C	ENST00000322608	Transcript	missense_variant	457/1307	457/945	153/314	T/A	Acc/Gcc		1		-1	OR1E1	HGNC	HGNC:8189	protein_coding	YES	CCDS11024.1	ENSP00000313384	P30953		UPI0000041BB6	NM_003553.2	tolerated(0.24)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF367,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	21	3397954	3397954	T	C	1	0	0	0	0	1	0	0	0	11032	1696	59	5		5	OR1E1	17	3397954	Missense_Mutation	SNP	T	C3L-00913_TP	119921	3397954	79859487	200	7436											
TP53	0	.	GRCh38	chr17	7676056	7676056	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagacggaaaccgtagctgcCctggtaggttttctgggaag	9	9	14	9	2	1	1	0	0	1	1	1	3	1	3	2	4	3	4	2	4	4	4			C3L-00913_TP	C3L-00913_NB	C	C																c.313G>T	p.Gly105Cys	p.G105C	ENST00000269305	4/11	187	155	32	140	140	0	strelka-varscan-mutect	TP53,missense_variant,p.Gly105Cys,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Gly105Cys,ENST00000420246,;TP53,missense_variant,p.Gly66Cys,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Gly66Cys,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Gly105Cys,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Gly66Cys,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Gly105Cys,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Gly66Cys,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Gly105Cys,ENST00000445888,;TP53,missense_variant,p.Gly66Cys,ENST00000619485,;TP53,missense_variant,p.Gly105Cys,ENST00000359597,;TP53,missense_variant,p.Gly105Cys,ENST00000615910,;TP53,missense_variant,p.Gly105Cys,ENST00000413465,;TP53,missense_variant,p.Gly105Cys,ENST00000508793,;TP53,missense_variant,p.Gly105Cys,ENST00000604348,;TP53,missense_variant,p.Gly105Cys,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000510385,NM_001126116.1;TP53,upstream_gene_variant,,ENST00000618944,NM_001276698.1;TP53,upstream_gene_variant,,ENST00000504290,NM_001126117.1;TP53,upstream_gene_variant,,ENST00000610623,NM_001276699.1;TP53,upstream_gene_variant,,ENST00000504937,NM_001126115.1;TP53,upstream_gene_variant,,ENST00000619186,NM_001276697.1;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Gly66Cys,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	503/2579	313/1182	105/393	G/C	Ggc/Tgc	CM043949,TP53_g.11544G>T,TP53_g.11544G>C,TP53_g.11544del,TP53_g.11544G>A,COSM2155200,COSM2155201,COSM2155202,COSM338570,COSM338571,COSM3403300,COSM44481,COSM45179,COSM45833,COSM5318159,COSM5318160,COSM78687	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		4/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417											0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs1060501195	.												A	3	1	21	7676056	7676056	C	A	1	0	0	0	0	1	0	0	0	16859	623	22	2		2	TP53	17	7676056	Missense_Mutation	SNP	C	C3L-00913_TP	4278102	7676056	75581385	201	7437											
CFAP52	0	.	GRCh38	chr17	9635519	9635519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacgaggagtgtgtcaccGccagcaccgatgggacttgt	10	7	13	11	3	1	0	1	0	0	0	1	4	1	2	3	2	2	1	3	2	1	1	rs766179265		C3L-00913_TP	C3L-00913_NB	G	G																c.1435G>A	p.Ala479Thr	p.A479T	ENST00000352665	11/14	317	284	33	233	232	1	strelka-varscan-mutect	CFAP52,missense_variant,p.Ala479Thr,ENST00000352665,NM_145054.4;CFAP52,missense_variant,p.Ala411Thr,ENST00000396219,NM_001080556.1;CFAP52,missense_variant,p.Ala31Thr,ENST00000574097,;RP11-55L4.2,downstream_gene_variant,,ENST00000584676,;CFAP52,non_coding_transcript_exon_variant,,ENST00000576714,;CFAP52,3_prime_UTR_variant,,ENST00000576630,;	A	ENST00000352665	Transcript	missense_variant	1504/2193	1435/1863	479/620	A/T	Gcc/Acc	rs766179265,COSM180362,COSM5104919	1		1	CFAP52	HGNC	HGNC:16053	protein_coding	YES	CCDS11149.2	ENSP00000339449	Q8N1V2		UPI00001AECC1	NM_145054.4	deleterious(0.02)		11/14		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_patterns:PS00678,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF14,SMART_domains:SM00320,Superfamily_domains:SSF50978											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs766179265	.												A	3	1	21	9635519	9635519	G	A	1	0	0	0	0	1	0	0	0	3023	1087	38	1		1	CFAP52	17	9635519	Missense_Mutation	SNP	G	C3L-00913_TP	1959463	9635519	73621922	202	7438											
KCNJ18	0	.	GRCh38	chr17	21703957	21703957	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccgtgacgaggaggatGaggcggacggagaccaggac	11	3	19	8	4	0	4	0	3	0	1	0	10	0	8	2	6	1	0	2	6	0	0	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1171G>T	p.Glu391Ter	p.E391*	ENST00000567955	3/3	170	144	26	132	132	0	varscan-mutect	KCNJ18,stop_gained,p.Glu391Ter,ENST00000567955,NM_001194958.2;	T	ENST00000567955	Transcript	stop_gained	1541/2196	1171/1302	391/433	E/*	Gag/Tag		1		1	KCNJ18	HGNC	HGNC:39080	protein_coding	YES	CCDS74015.1	ENSP00000457807	B7U540		UPI0002064ECF	NM_001194958.2			3/3		Prints_domain:PR01325,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	21	21703957	21703957	G	T	1	0	0	0	0	0	1	0	0	7967	1291	45	2		2	KCNJ18	17	21703957	Nonsense_Mutation	SNP	G	C3L-00913_TP	12068438	21703957	61553484	203	7439											
SLC9A3R1	0	.	GRCh38	chr17	74749056	74749056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaaaacgtggagaaggaGacccaccagcaggtggtgag	13	3	17	8	2	0	3	0	1	0	2	0	6	0	3	2	5	2	1	2	5	3	0	rs747050189		C3L-00913_TP	C3L-00913_NB	G	G																c.210G>T	p.Glu70Asp	p.E70D	ENST00000262613	1/6	285	268	17	237	237	0	strelka-varscan-mutect	SLC9A3R1,missense_variant,p.Glu70Asp,ENST00000262613,NM_004252.4;SLC9A3R1,missense_variant,p.Glu70Asp,ENST00000583369,;RAB37,downstream_gene_variant,,ENST00000340415,;RAB37,downstream_gene_variant,,ENST00000392610,;RAB37,downstream_gene_variant,,ENST00000392614,NM_001163989.1;RAB37,downstream_gene_variant,,ENST00000392615,;RAB37,downstream_gene_variant,,ENST00000392613,NM_001006638.2;RAB37,downstream_gene_variant,,ENST00000392612,NM_001163990.1;RAB37,downstream_gene_variant,,ENST00000613645,;RAB37,downstream_gene_variant,,ENST00000402449,NM_175738.4;RAB37,downstream_gene_variant,,ENST00000528438,;SLC9A3R1,downstream_gene_variant,,ENST00000581999,;RP11-452I5.2,upstream_gene_variant,,ENST00000585285,;RAB37,downstream_gene_variant,,ENST00000392617,;RAB37,downstream_gene_variant,,ENST00000488977,;RAB37,downstream_gene_variant,,ENST00000481224,;RAB37,downstream_gene_variant,,ENST00000577548,;RAB37,downstream_gene_variant,,ENST00000533530,;RAB37,downstream_gene_variant,,ENST00000531420,;RAB37,downstream_gene_variant,,ENST00000527040,;	T	ENST00000262613	Transcript	missense_variant	405/1969	210/1077	70/358	E/D	gaG/gaT	rs747050189	1		1	SLC9A3R1	HGNC	HGNC:11075	protein_coding	YES	CCDS11705.1	ENSP00000262613	O14745		UPI0000072521	NM_004252.4	tolerated(0.09)		1/6		Gene3D:2.30.42.10,Pfam_domain:PF00595,PIRSF_domain:PIRSF037866,PROSITE_profiles:PS50106,hmmpanther:PTHR14191,hmmpanther:PTHR14191:SF7,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		rs747050189	.												T	3	4	21	74749056	74749056	G	T	1	0	0	0	0	1	0	0	0	14996	933	33	2		2	SLC9A3R1	17	74749056	Missense_Mutation	SNP	G	C3L-00913_TP	53045099	74749056	8508385	204	7440											
RECQL5	0	.	GRCh38	chr17	75658323	75658323	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgctacttccttcctgAtcaggaagctgacttggtcc	6	15	9	11	0	1	2	1	2	0	0	4	3	4	3	3	2	3	3	3	2	2	6	novel		C3L-00913_TP	C3L-00913_NB	A	A																c.1124T>A	p.Ile375Asn	p.I375N	ENST00000317905	7/20	167	155	12	144	143	1	strelka-varscan-mutect	RECQL5,missense_variant,p.Ile375Asn,ENST00000420326,NM_001003716.3;RECQL5,missense_variant,p.Ile375Asn,ENST00000317905,NM_004259.6;RECQL5,missense_variant,p.Ile348Asn,ENST00000423245,;RECQL5,missense_variant,p.Ile375Asn,ENST00000578201,;RECQL5,missense_variant,p.Ile375Asn,ENST00000584999,;RECQL5,missense_variant,p.Ile375Asn,ENST00000340830,NM_001003715.3;RECQL5,3_prime_UTR_variant,,ENST00000580078,;RECQL5,non_coding_transcript_exon_variant,,ENST00000579274,;RECQL5,missense_variant,p.Ile58Asn,ENST00000582464,;	T	ENST00000317905	Transcript	missense_variant	1284/3704	1124/2976	375/991	I/N	aTc/aAc		1		-1	RECQL5	HGNC	HGNC:9950	protein_coding	YES	CCDS42380.1	ENSP00000317636	O94762	A0A024R8M9	UPI0000133477	NM_004259.6	deleterious(0)		7/20		Gene3D:1.10.10.10,Pfam_domain:PF16124,PROSITE_profiles:PS51194,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF85,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00614																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	75658323	75658323	A	T	1	0	0	0	0	1	0	0	0	13373	333	12	4		4	RECQL5	17	75658323	Missense_Mutation	SNP	A	C3L-00913_TP	909267	75658323	7599118	205	7441											
RNF213	0	.	GRCh38	chr17	80345403	80345403	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtaccagggcctgctgctCcagagggtgcccttcaatgt	6	10	12	13	0	1	1	1	0	0	1	2	1	2	1	4	2	4	3	4	2	2	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.7068C>T	p.=	p.L2356L	ENST00000582970	29/68	151	140	11	141	141	0	strelka-varscan-mutect	RNF213,synonymous_variant,p.=,ENST00000582970,NM_001256071.2;RNF213,synonymous_variant,p.=,ENST00000508628,;CTD-2047H16.3,downstream_gene_variant,,ENST00000622931,;	T	ENST00000582970	Transcript	synonymous_variant	7211/21055	7068/15624	2356/5207	L	ctC/ctT		1		1	RNF213	HGNC	HGNC:14539	protein_coding	YES	CCDS58606.1	ENSP00000464087		A0A0A0MTR7	UPI00043788D6	NM_001256071.2			29/68		hmmpanther:PTHR22605:SF5,hmmpanther:PTHR22605																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	21	80345403	80345403	C	T	1	0	0	0	0	0	0	0	1	13656	842	30	3		3	RNF213	17	80345403	Silent	SNP	C	C3L-00913_TP	4687080	80345403	2912038	206	7442											
DUS1L	0	.	GRCh38	chr17	82060039	82060039	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtgccaccctcctcttcCtccagggcccgcttgctgcg	2	10	9	20	3	1	0	0	0	1	0	5	0	5	0	7	1	3	2	7	1	0	2	rs200132619		C3L-00913_TP	C3L-00913_NB	C	C																c.1077G>T	p.Glu359Asp	p.E359D	ENST00000354321	10/13	201	189	12	176	176	0	strelka-varscan-mutect	DUS1L,missense_variant,p.Glu359Asp,ENST00000354321,;DUS1L,missense_variant,p.Glu359Asp,ENST00000306796,NM_022156.4;DUS1L,missense_variant,p.Glu227Asp,ENST00000538833,;DUS1L,missense_variant,p.Glu44Asp,ENST00000542088,;DUS1L,missense_variant,p.Glu19Asp,ENST00000577574,;GPS1,downstream_gene_variant,,ENST00000392358,NM_212492.1;GPS1,downstream_gene_variant,,ENST00000320548,NM_001321093.1;GPS1,downstream_gene_variant,,ENST00000623761,;GPS1,downstream_gene_variant,,ENST00000578552,NM_001321092.1;GPS1,downstream_gene_variant,,ENST00000306823,NM_004127.4;GPS1,downstream_gene_variant,,ENST00000623691,;GPS1,downstream_gene_variant,,ENST00000624957,;DUS1L,downstream_gene_variant,,ENST00000582529,;DUS1L,downstream_gene_variant,,ENST00000578907,;DUS1L,downstream_gene_variant,,ENST00000578176,;DUS1L,downstream_gene_variant,,ENST00000577907,;GPS1,downstream_gene_variant,,ENST00000578168,;DUS1L,missense_variant,p.Arg174Met,ENST00000580731,;DUS1L,non_coding_transcript_exon_variant,,ENST00000578846,;DUS1L,non_coding_transcript_exon_variant,,ENST00000578428,;DUS1L,non_coding_transcript_exon_variant,,ENST00000579854,;GPS1,downstream_gene_variant,,ENST00000392357,;GPS1,downstream_gene_variant,,ENST00000584460,;DUS1L,downstream_gene_variant,,ENST00000578264,;GPS1,downstream_gene_variant,,ENST00000580141,;GPS1,downstream_gene_variant,,ENST00000578279,;GPS1,downstream_gene_variant,,ENST00000583486,;DUS1L,downstream_gene_variant,,ENST00000582407,;DUS1L,upstream_gene_variant,,ENST00000584871,;	A	ENST00000354321	Transcript	missense_variant	1563/2151	1077/1422	359/473	E/D	gaG/gaT	rs200132619	1		-1	DUS1L	HGNC	HGNC:30086	protein_coding	YES	CCDS32775.1	ENSP00000346280	Q6P1R4		UPI00002004B5		tolerated(0.25)		10/13		hmmpanther:PTHR11082,hmmpanther:PTHR11082:SF5																	MODERATE	1	SNV	1			1										PASS		rs200132619	.												A	3	1	21	82060039	82060039	C	A	1	0	0	0	0	1	0	0	0	4627	680	24	2		2	DUS1L	17	82060039	Missense_Mutation	SNP	C	C3L-00913_TP	1714636	82060039	1197402	207	7443											
LAMA3	0	.	GRCh38	chr18	23847578	23847578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acactcattcagcttccaccCcatggccggctgcgaaggct	8	8	9	16	2	2	0	2	0	0	0	3	1	3	0	4	3	2	3	4	3	1	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.4046C>G	p.Pro1349Arg	p.P1349R	ENST00000313654	32/75	570	526	44	456	456	0	strelka-varscan-mutect	LAMA3,missense_variant,p.Pro1349Arg,ENST00000313654,NM_198129.2;LAMA3,missense_variant,p.Pro1349Arg,ENST00000399516,NM_001127717.2;	G	ENST00000313654	Transcript	missense_variant	4287/10661	4046/10002	1349/3333	P/R	cCc/cGc		1		1	LAMA3	HGNC	HGNC:6483	protein_coding	YES	CCDS42419.1	ENSP00000324532	Q16787		UPI000035154D	NM_198129.2	deleterious(0)		32/75		Gene3D:2.10.25.10,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF285,SMART_domains:SM00180																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	21	23847578	23847578	C	G	1	0	0	0	0	1	0	0	0	8511	623	22	4		4	LAMA3	18	23847578	Missense_Mutation	SNP	C	C3L-00913_TP		23847578	56525707	208	7444											
MAPRE2	0	.	GRCh38	chr18	35005533	35005533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agttcatttcaacagccaggGagaaagcctggatgctcaag	13	8	11	9	0	3	1	3	0	0	1	3	3	3	2	2	2	4	2	2	2	3	2	rs760492138		C3L-00913_TP	C3L-00913_NB	G	G																c.66G>A	p.=	p.G22G	ENST00000436190	2/8	165	150	15	154	153	1	strelka-varscan-mutect	MAPRE2,synonymous_variant,p.=,ENST00000436190,NM_001143827.2;MAPRE2,5_prime_UTR_variant,,ENST00000413393,NM_001143826.2;MAPRE2,5_prime_UTR_variant,,ENST00000591734,;MAPRE2,5_prime_UTR_variant,,ENST00000587359,;MAPRE2,5_prime_UTR_variant,,ENST00000589180,;MAPRE2,5_prime_UTR_variant,,ENST00000588349,;	A	ENST00000436190	Transcript	synonymous_variant	340/4323	66/948	22/315	G	ggG/ggA	rs760492138	1		1	MAPRE2	HGNC	HGNC:6891	protein_coding		CCDS45850.1	ENSP00000407723	Q15555		UPI00018AC3AF	NM_001143827.2			2/8																			LOW	1	SNV	2			1										PASS		rs760492138	.												A	2	1	21	35005533	35005533	G	A	1	0	0	0	0	0	0	0	1	9218	1161	41	3		3	MAPRE2	18	35005533	Silent	SNP	G	C3L-00913_TP	11157955	35005533	45367752	209	7445											
SYT4	0	.	GRCh38	chr18	43273970	43273970	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaagaagagagttcccagCttctcttgtttctcttctga	9	14	9	9	0	3	4	0	1	3	3	6	6	4	4	1	0	1	3	1	0	2	5			C3L-00913_TP	C3L-00913_NB	C	C																c.459G>A	p.=	p.K153K	ENST00000255224	2/4	323	305	18	311	311	0	strelka-varscan-mutect	SYT4,synonymous_variant,p.=,ENST00000255224,NM_020783.3;SYT4,synonymous_variant,p.=,ENST00000590752,;SYT4,intron_variant,,ENST00000596867,;SYT4,intron_variant,,ENST00000593720,;SYT4,intron_variant,,ENST00000586678,;SYT4,intron_variant,,ENST00000585604,;SYT4,upstream_gene_variant,,ENST00000589479,;SYT4,downstream_gene_variant,,ENST00000591820,;	T	ENST00000255224	Transcript	synonymous_variant	828/4110	459/1278	153/425	K	aaG/aaA	COSM563990,COSM563991	1		-1	SYT4	HGNC	HGNC:11512	protein_coding	YES	CCDS11922.1	ENSP00000255224	Q9H2B2		UPI000013669E	NM_020783.3			2/4		Gene3D:2.60.40.150,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF114,Low_complexity_(Seg):seg,Superfamily_domains:SSF49562											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	21	43273970	43273970	C	T	1	0	0	0	0	0	0	0	1	15870	796	28	3		3	SYT4	18	43273970	Silent	SNP	C	C3L-00913_TP	8268437	43273970	37099315	210	7446											
ALPK2	0	.	GRCh38	chr18	58537826	58537826	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcatcacacacattttccagGgtgagggcagtatctgtggg	9	11	12	9	0	3	1	2	1	1	0	4	1	4	1	1	3	0	2	1	3	1	3	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.2361C>A	p.=	p.T787T	ENST00000361673	5/13	234	209	25	208	208	0	strelka-varscan-mutect	ALPK2,synonymous_variant,p.=,ENST00000361673,NM_052947.3;RP11-1151B14.4,non_coding_transcript_exon_variant,,ENST00000591360,;ALPK2,downstream_gene_variant,,ENST00000587842,;ALPK2,upstream_gene_variant,,ENST00000589204,;	T	ENST00000361673	Transcript	synonymous_variant	2575/7303	2361/6513	787/2170	T	acC/acA		1		-1	ALPK2	HGNC	HGNC:20565	protein_coding	YES	CCDS11966.2	ENSP00000354991	Q86TB3		UPI000022A768	NM_052947.3			5/13		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	21	58537826	58537826	G	T	1	0	0	0	0	0	0	0	1	645	1219	43	2		2	ALPK2	18	58537826	Silent	SNP	G	C3L-00913_TP	15263856	58537826	21835459	211	7447											
NFATC1	0	.	GRCh38	chr18	79410458	79410458	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctgccgctccccacggcGcactccaccctgccggcccc	3	4	9	25	4	0	0	0	0	0	0	2	0	2	0	9	2	2	2	9	2	0	0	rs776245598		C3L-00913_TP	C3L-00913_NB	G	G																c.183G>C	p.=	p.A61A	ENST00000427363	2/10	143	130	13	153	153	0	strelka-varscan-mutect	NFATC1,synonymous_variant,p.=,ENST00000591814,NM_172390.2;NFATC1,synonymous_variant,p.=,ENST00000253506,NM_006162.4;NFATC1,synonymous_variant,p.=,ENST00000329101,NM_172387.2;NFATC1,synonymous_variant,p.=,ENST00000318065,NM_172389.2;NFATC1,synonymous_variant,p.=,ENST00000427363,NM_001278669.1;NFATC1,synonymous_variant,p.=,ENST00000592223,NM_001278675.1;NFATC1,synonymous_variant,p.=,ENST00000587635,;NFATC1,synonymous_variant,p.=,ENST00000542384,NM_001278670.1;NFATC1,synonymous_variant,p.=,ENST00000586434,NM_001278672.1;NFATC1,intron_variant,,ENST00000545796,NM_001278673.1;NFATC1,intron_variant,,ENST00000397790,NM_172388.2;NFATC1,intron_variant,,ENST00000590313,;	C	ENST00000427363	Transcript	synonymous_variant	183/2832	183/2832	61/943	A	gcG/gcC	rs776245598,COSM4790157,COSM4790158	1		1	NFATC1	HGNC	HGNC:7775	protein_coding	YES	CCDS62467.1	ENSP00000389377	O95644		UPI000012FFB5	NM_001278669.1			2/10		hmmpanther:PTHR12533:SF5,hmmpanther:PTHR12533											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs776245598	.												C	2	2	21	79410458	79410458	G	C	1	0	0	0	0	0	0	0	1	10398	1074	38	4		4	NFATC1	18	79410458	Silent	SNP	G	C3L-00913_TP	20872632	79410458	962827	212	7448											
THOP1	0	.	GRCh38	chr19	2790512	2790512	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcagatagaggagcgCaccagggagctcatcgagca	12	3	14	12	2	1	2	1	0	0	2	2	5	1	4	2	2	4	4	2	2	1	1			C3L-00913_TP	C3L-00913_NB	C	C																c.108C>T	p.=	p.R36R	ENST00000307741	2/13	68	58	10	59	59	0	strelka-varscan-mutect	THOP1,synonymous_variant,p.=,ENST00000307741,NM_003249.3;THOP1,synonymous_variant,p.=,ENST00000585338,;THOP1,non_coding_transcript_exon_variant,,ENST00000585673,;THOP1,non_coding_transcript_exon_variant,,ENST00000586780,;	T	ENST00000307741	Transcript	synonymous_variant	311/4804	108/2070	36/689	R	cgC/cgT	COSM5149797	1		1	THOP1	HGNC	HGNC:11793	protein_coding	YES	CCDS12095.1	ENSP00000304467	P52888		UPI0000000C3E	NM_003249.3			2/13		Gene3D:2o36A01,hmmpanther:PTHR11804,hmmpanther:PTHR11804:SF50,Superfamily_domains:SSF55486											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	21	2790512	2790512	C	T	1	0	0	0	0	0	0	0	1	16305	697	25	3		3	THOP1	19	2790512	Silent	SNP	C	C3L-00913_TP		2790512	55827104	213	7449											
ZNF358	0	.	GRCh38	chr19	7520464	7520464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgctgctgcagctgccgcgGccgctgcagctgcagcagcg	4	5	15	17	5	0	0	0	0	0	0	0	0	0	0	3	1	9	9	3	1	0	0	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1222G>T	p.Ala408Ser	p.A408S	ENST00000597229	2/2	132	109	23	146	146	0	strelka-varscan-mutect	ZNF358,missense_variant,p.Ala408Ser,ENST00000597229,NM_018083.4;MCOLN1,upstream_gene_variant,,ENST00000264079,NM_020533.2;MCOLN1,upstream_gene_variant,,ENST00000601003,;ZNF358,downstream_gene_variant,,ENST00000596712,;CTD-2207O23.12,downstream_gene_variant,,ENST00000599312,;CTD-2207O23.11,upstream_gene_variant,,ENST00000602083,;MCOLN1,upstream_gene_variant,,ENST00000394321,;MCOLN1,upstream_gene_variant,,ENST00000596390,;CTD-2207O23.12,downstream_gene_variant,,ENST00000597384,;	T	ENST00000597229	Transcript	missense_variant	1392/1954	1222/1707	408/568	A/S	Gcc/Tcc		1		1	ZNF358	HGNC	HGNC:16838	protein_coding	YES	CCDS32890.2	ENSP00000472305	Q9NW07		UPI0000201F0C	NM_018083.4	deleterious(0.02)		2/2		Low_complexity_(Seg):seg																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	21	7520464	7520464	G	T	1	0	0	0	0	1	0	0	0	18439	1203	42	2		2	ZNF358	19	7520464	Missense_Mutation	SNP	G	C3L-00913_TP	4729952	7520464	51097152	214	7450											
MUC16	0	.	GRCh38	chr19	8914974	8914974	+	Silent	SNP	G	G	T																															acactggtgttcttgaacaaGggcttgagctgtggaggagg																								rs760544812		C3L-00913_TP	C3L-00913_NB	G	G																c.36804C>A	p.=	p.P12268P	ENST00000397910	15/84	244	212	32	181	181	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	synonymous_variant	37008/43816	36804/43524	12268/14507	P	ccC/ccA	rs760544812	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			15/84		PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Gene3D:1ivzA00,Pfam_domain:PF01390,SMART_domains:SM00200,Superfamily_domains:0047452																	LOW	1	SNV	5			1										PASS		rs760544812	.												T	2	4	21	8914974	8914974	G	T	1	0	0	0	0	0	0	0	1	9972	987	35	2		2	MUC16	19	8914974	Silent	SNP	G	C3L-00913_TP	1394510	8914974	49702642	215	7451	170	2									
MUC16	0	.	GRCh38	chr19	8914975	8914975	+	Missense_Mutation	SNP	G	G	T																															cactggtgttcttgaacaagGgcttgagctgtggaggaggg																								novel		C3L-00913_TP	C3L-00913_NB	G	G																c.36803C>A	p.Pro12268His	p.P12268H	ENST00000397910	15/84	241	209	32	179	179	0	strelka-varscan-mutect	MUC16,missense_variant,p.Pro12268His,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	37007/43816	36803/43524	12268/14507	P/H	cCc/cAc		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			15/84		PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Gene3D:1ivzA00,Pfam_domain:PF01390,SMART_domains:SM00200,Superfamily_domains:0047452																	MODERATE	1	SNV	5			1										PASS		rs1178618606	.												T	3	4	21	8914975	8914975	G	T	1	0	0	0	0	1	0	0	0	9972	1232	43	2		2	MUC16	19	8914975	Missense_Mutation	SNP	G	C3L-00913_TP	1	8914975	49702641	216	7452	170	2									
ZNF439	0	.	GRCh38	chr19	11867464	11867464	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtgaagttggcctaggtaActcatcttctaatatgaaca	12	13	9	7	0	3	2	1	2	2	0	3	2	3	2	1	2	2	2	1	2	6	6	novel		C3L-00913_TP	C3L-00913_NB	A	A																c.395A>G	p.Asn132Ser	p.N132S	ENST00000304030	3/3	392	344	48	296	296	0	strelka-varscan-mutect	ZNF439,missense_variant,p.Asn132Ser,ENST00000304030,NM_152262.2;ZNF439,5_prime_UTR_variant,,ENST00000455282,;ZNF439,downstream_gene_variant,,ENST00000442091,;ZNF439,intron_variant,,ENST00000592534,;	G	ENST00000304030	Transcript	missense_variant	595/2622	395/1500	132/499	N/S	aAc/aGc		1		1	ZNF439	HGNC	HGNC:20873	protein_coding	YES	CCDS12268.1	ENSP00000305077	Q8NDP4		UPI000006F768	NM_152262.2	deleterious(0.02)		3/3		hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF146																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	21	11867464	11867464	A	G	1	0	0	0	0	1	0	0	0	18482	43	2	5		5	ZNF439	19	11867464	Missense_Mutation	SNP	A	C3L-00913_TP	2952489	11867464	46750152	217	7453											
ZNF136	0	.	GRCh38	chr19	12187989	12187989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaccttataaatgcatgtgGgaaagcctttaatgctctgg	11	12	9	9	0	1	0	0	0	1	0	1	1	1	1	3	2	3	2	3	2	5	4	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1611G>T	p.Trp537Cys	p.W537C	ENST00000343979	4/4	28	20	8	31	31	0	varscan-mutect	ZNF136,missense_variant,p.Trp537Cys,ENST00000343979,NM_003437.3;ZNF136,downstream_gene_variant,,ENST00000418338,;ZNF136,downstream_gene_variant,,ENST00000439995,;ZNF136,downstream_gene_variant,,ENST00000425827,;ZNF136,non_coding_transcript_exon_variant,,ENST00000464860,;ZNF136,downstream_gene_variant,,ENST00000476676,;	T	ENST00000343979	Transcript	missense_variant	1751/3643	1611/1623	537/540	W/C	tgG/tgT		1		1	ZNF136	HGNC	HGNC:12920	protein_coding	YES	CCDS32916.1	ENSP00000344162	P52737		UPI0000000C7B	NM_003437.3	deleterious_low_confidence(0)		4/4																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	12187989	12187989	G	T	1	0	0	0	0	1	0	0	0	18307	1241	43	2		2	ZNF136	19	12187989	Missense_Mutation	SNP	G	C3L-00913_TP	320525	12187989	46429627	218	7454											
COMP	0	.	GRCh38	chr19	18791218	18791218	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctggccctgtccggacgCgccgagggcagccagggtga	5	5	17	14	4	1	1	0	1	1	0	2	3	2	2	4	4	1	2	4	4	0	0	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.52G>T	p.Ala18Ser	p.A18S	ENST00000222271	1/19	267	238	29	207	207	0	strelka-varscan-mutect	COMP,missense_variant,p.Ala18Ser,ENST00000222271,NM_000095.2;COMP,missense_variant,p.Ala18Ser,ENST00000425807,;COMP,5_prime_UTR_variant,,ENST00000542601,;COMP,upstream_gene_variant,,ENST00000612179,;	A	ENST00000222271	Transcript	missense_variant	97/2461	52/2274	18/757	A/S	Gcg/Tcg		1		-1	COMP	HGNC	HGNC:2227	protein_coding	YES	CCDS12385.1	ENSP00000222271	P49747		UPI000013C7F6	NM_000095.2	tolerated_low_confidence(0.34)		1/19		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	18791218	18791218	C	A	1	0	0	0	0	1	0	0	0	3516	768	27	1		1	COMP	19	18791218	Missense_Mutation	SNP	C	C3L-00913_TP	6603229	18791218	39826398	219	7455											
ZNF724P	0	.	GRCh38	chr19	23232203	23232203	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtagttctctaacatcaCgttcctatataaattctgct	10	17	4	10	1	4	0	1	0	3	0	6	0	5	0	1	0	2	4	1	0	6	8	rs762886653		C3L-00913_TP	C3L-00913_NB	C	C																c.94G>C	p.Val32Leu	p.V32L	ENST00000418100	2/4	277	242	35	260	260	0	strelka-varscan-mutect	ZNF724P,missense_variant,p.Val32Leu,ENST00000418100,;RP11-15H20.8,missense_variant,p.Val26Leu,ENST00000611392,;ZNF724P,missense_variant,p.Val32Leu,ENST00000597037,;ZNF724P,missense_variant,p.Val26Leu,ENST00000597537,;BNIP3P38,upstream_gene_variant,,ENST00000601117,;	G	ENST00000418100	Transcript	missense_variant	212/2764	94/1860	32/619	V/L	Gtg/Ctg	rs762886653	1		-1	ZNF724P	HGNC	HGNC:32460	protein_coding	YES		ENSP00000413411	A8MTY0		UPI0000EE61E4		deleterious(0)		2/4		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF123,SMART_domains:SM00349																	MODERATE	1	SNV	2			1										PASS		rs762886653	.												G	3	3	21	23232203	23232203	C	G	1	0	0	0	0	1	0	0	0	18699	536	19	4		4	ZNF724P	19	23232203	Missense_Mutation	SNP	C	C3L-00913_TP	4440985	23232203	35385413	220	7456											
SBSN	0	.	GRCh38	chr19	35528027	35528027	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggttgagcccctggacgccTttgtccaactccttgccggt	4	12	11	14	2	0	1	0	1	0	0	2	2	2	2	6	3	3	1	6	3	1	3	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.255A>T	p.Lys85Asn	p.K85N	ENST00000452271	1/4	393	276	117	285	285	0	strelka-varscan-mutect	SBSN,missense_variant,p.Lys85Asn,ENST00000452271,NM_001166034.1;SBSN,missense_variant,p.Lys85Asn,ENST00000518157,NM_198538.3;SBSN,missense_variant,p.Lys65Asn,ENST00000588674,NM_001166035.1;	A	ENST00000452271	Transcript	missense_variant	284/1945	255/1773	85/590	K/N	aaA/aaT		1		-1	SBSN	HGNC	HGNC:24950	protein_coding	YES	CCDS54253.1	ENSP00000430242	Q6UWP8		UPI000059D6E7	NM_001166034.1	deleterious(0)		1/4		hmmpanther:PTHR23243,hmmpanther:PTHR23243:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	35528027	35528027	T	A	1	0	0	0	0	1	0	0	0	14129	1606	56	4		4	SBSN	19	35528027	Missense_Mutation	SNP	T	C3L-00913_TP	12295824	35528027	23089589	221	7457											
DYRK1B	0	.	GRCh38	chr19	39825844	39825844	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccggagggctgaggcagcCgggtgctggggggcaggcgc	4	4	23	10	3	0	1	0	1	0	0	1	2	1	2	2	8	2	4	2	8	0	0	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1761G>T	p.=	p.P587P	ENST00000593685	11/11	151	106	45	116	116	0	strelka-varscan-mutect	DYRK1B,synonymous_variant,p.=,ENST00000593685,;DYRK1B,synonymous_variant,p.=,ENST00000323039,NM_004714.2;DYRK1B,synonymous_variant,p.=,ENST00000348817,NM_006484.2;DYRK1B,synonymous_variant,p.=,ENST00000430012,NM_006483.2;DYRK1B,synonymous_variant,p.=,ENST00000597639,;DYRK1B,downstream_gene_variant,,ENST00000601972,;DYRK1B,downstream_gene_variant,,ENST00000600611,;MIR6719,downstream_gene_variant,,ENST00000622428,;DYRK1B,downstream_gene_variant,,ENST00000601696,;	A	ENST00000593685	Transcript	synonymous_variant	2230/2724	1761/1890	587/629	P	ccG/ccT		1		-1	DYRK1B	HGNC	HGNC:3092	protein_coding	YES	CCDS12543.1	ENSP00000469863	Q9Y463	A0A024R0I0	UPI0000001059				11/11		hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF27,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs1014387393	.												A	2	1	21	39825844	39825844	C	A	1	0	0	0	0	0	0	0	1	4679	639	23	1		1	DYRK1B	19	39825844	Silent	SNP	C	C3L-00913_TP	4297817	39825844	18791772	222	7458											
ATP1A3	0	.	GRCh38	chr19	41976502	41976502	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtgtgattctgcaggatctCgtcgatttgctcggaggtga	6	13	15	7	3	2	2	0	2	2	0	5	5	2	4	0	4	2	2	0	4	0	2	rs782439924		C3L-00913_TP	C3L-00913_NB	C	C																c.2047G>C	p.Glu683Gln	p.E683Q	ENST00000545399	15/23	592	429	163	350	350	0	strelka-varscan-mutect	ATP1A3,missense_variant,p.Glu683Gln,ENST00000545399,NM_001256214.1;ATP1A3,missense_variant,p.Glu670Gln,ENST00000302102,NM_152296.4;ATP1A3,missense_variant,p.Glu640Gln,ENST00000602133,;ATP1A3,missense_variant,p.Glu681Gln,ENST00000543770,NM_001256213.1;ATP1A3,missense_variant,p.Glu670Gln,ENST00000441343,;	G	ENST00000545399	Transcript	missense_variant	2231/3618	2047/3081	683/1026	E/Q	Gag/Cag	rs782439924,COSM1712386	1		-1	ATP1A3	HGNC	HGNC:801	protein_coding	YES	CCDS58664.1	ENSP00000444688	P13637		UPI0001914BDE	NM_001256214.1	tolerated(0.13)		15/23		Gene3D:1.20.1110.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF259,TIGRFAM_domain:TIGR01106											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs782439924	.												G	3	3	21	41976502	41976502	C	G	1	0	0	0	0	1	0	0	0	1282	893	31	4		4	ATP1A3	19	41976502	Missense_Mutation	SNP	C	C3L-00913_TP	2150658	41976502	16641114	223	7459											
PPP5C	0	.	GRCh38	chr19	46376518	46376518	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacaatcagtttcatgaagGagctcatgcagtggtacaag	13	10	11	7	0	3	2	3	2	0	0	3	3	3	3	0	2	3	4	0	2	4	2	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.577G>T	p.Glu193Ter	p.E193*	ENST00000012443	4/13	266	196	70	173	173	0	strelka-varscan-mutect	PPP5C,stop_gained,p.Glu193Ter,ENST00000012443,NM_001204284.1,NM_006247.3;PPP5C,stop_gained,p.Glu87Ter,ENST00000391919,;PPP5C,stop_gained,p.Glu192Ter,ENST00000478046,;PPP5C,non_coding_transcript_exon_variant,,ENST00000527193,;PPP5C,non_coding_transcript_exon_variant,,ENST00000467902,;PPP5C,upstream_gene_variant,,ENST00000487483,;	T	ENST00000012443	Transcript	stop_gained	680/2109	577/1500	193/499	E/*	Gag/Tag		1		1	PPP5C	HGNC	HGNC:9322	protein_coding	YES	CCDS12684.1	ENSP00000012443	P53041	A0A024R0Q7	UPI0000041859	NM_001204284.1,NM_006247.3			4/13		hmmpanther:PTHR11668:SF21,hmmpanther:PTHR11668,Pfam_domain:PF08321,Gene3D:3.60.21.10,PIRSF_domain:PIRSF033096,Superfamily_domains:SSF56300																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	21	46376518	46376518	G	T	1	0	0	0	0	0	1	0	0	12531	1175	41	2		2	PPP5C	19	46376518	Nonsense_Mutation	SNP	G	C3L-00913_TP	4400016	46376518	12241098	224	7460											
MYH14	0	.	GRCh38	chr19	50286683	50286683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagcagcaaggatgacGtcggcaagagcgtgagcagg	11	5	17	8	3	0	4	0	3	0	1	1	5	0	5	0	3	5	5	0	3	2	0	rs680446		C3L-00913_TP	C3L-00913_NB	G	G																c.4741G>T	p.Val1581Phe	p.V1581F	ENST00000601313	34/43	197	184	13	183	183	0	strelka-varscan-mutect	MYH14,missense_variant,p.Val1581Phe,ENST00000601313,NM_001145809.1;MYH14,missense_variant,p.Val1548Phe,ENST00000425460,NM_001077186.1;MYH14,missense_variant,p.Val1540Phe,ENST00000376970,NM_024729.3;MYH14,missense_variant,p.Val1548Phe,ENST00000598205,;MYH14,missense_variant,p.Val1540Phe,ENST00000596571,;MYH14,missense_variant,p.Val183Phe,ENST00000440075,;MYH14,3_prime_UTR_variant,,ENST00000262269,;MYH14,non_coding_transcript_exon_variant,,ENST00000595016,;	T	ENST00000601313	Transcript	missense_variant	4771/6896	4741/6111	1581/2036	V/F	Gtc/Ttc	rs680446	1		1	MYH14	HGNC	HGNC:23212	protein_coding	YES	CCDS54295.1	ENSP00000470298	Q7Z406		UPI0001641C2F	NM_001145809.1	tolerated(0.07)		34/43		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF462,Pfam_domain:PF01576,Superfamily_domains:SSF90257										benign							MODERATE	1	SNV	1		1	1										PASS		rs680446	.												T	3	4	21	50286683	50286683	G	T	1	0	0	0	0	1	0	0	0	10033	1145	40	1		1	MYH14	19	50286683	Missense_Mutation	SNP	G	C3L-00913_TP	3910165	50286683	8330933	225	7461											
C19orf84	0	.	GRCh38	chr19	51389219	51389219	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctgtgcctgacttccCagcctccgcgtcccctggga	3	9	11	18	2	0	1	0	1	0	0	3	2	3	2	7	2	2	0	7	2	0	1	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.326G>A	p.Trp109Ter	p.W109*	ENST00000574814	2/2	120	112	8	124	124	0	strelka-varscan-mutect	C19orf84,stop_gained,p.Trp109Ter,ENST00000574814,NM_001193623.1;C19orf84,5_prime_UTR_variant,,ENST00000570516,;LIM2,upstream_gene_variant,,ENST00000221973,NM_030657.3;LIM2,upstream_gene_variant,,ENST00000596399,NM_001161748.1;	T	ENST00000574814	Transcript	stop_gained	388/1318	326/561	109/186	W/*	tGg/tAg		1		-1	C19orf84	HGNC	HGNC:27112	protein_coding	YES	CCDS58676.1	ENSP00000458772	I3L1E1		UPI0000161964	NM_001193623.1			2/2																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	21	51389219	51389219	C	T	1	0	0	0	0	0	1	0	0	1927	595	21	3		3	C19orf84	19	51389219	Nonsense_Mutation	SNP	C	C3L-00913_TP	1102536	51389219	7228397	226	7462											
SIGLEC6	0	.	GRCh38	chr19	51530733	51530733	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcacaccggctccagggaaCgtcacctgacaggtgaggtt	9	7	13	12	2	2	2	2	2	0	0	3	3	3	3	3	4	1	2	3	4	1	1			C3L-00913_TP	C3L-00913_NB	C	C																c.654G>T	p.=	p.T218T	ENST00000425629	3/8	302	283	19	278	278	0	strelka-varscan-mutect	SIGLEC6,synonymous_variant,p.=,ENST00000346477,NM_198845.4;SIGLEC6,synonymous_variant,p.=,ENST00000425629,NM_001245.5;SIGLEC6,synonymous_variant,p.=,ENST00000359982,NM_001177548.1;SIGLEC6,synonymous_variant,p.=,ENST00000343300,NM_198846.4;SIGLEC6,synonymous_variant,p.=,ENST00000436458,NM_001177547.1;SIGLEC6,synonymous_variant,p.=,ENST00000391797,NM_001177549.1;SIGLEC6,upstream_gene_variant,,ENST00000474054,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000496422,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000489837,;	A	ENST00000425629	Transcript	synonymous_variant	809/1852	654/1362	218/453	T	acG/acT	COSM2926002,COSM2926003	1		-1	SIGLEC6	HGNC	HGNC:10875	protein_coding	YES	CCDS12834.3	ENSP00000401502	O43699	A0A024R4K4	UPI0000223FFD	NM_001245.5			3/8		Gene3D:2.60.40.10,Pfam_domain:PF00047,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF52,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1						LOW	1	SNV	2		1,1	1										PASS		rs1339012854	.												A	2	1	21	51530733	51530733	C	A	1	0	0	0	0	0	0	0	1	14576	523	19	1		1	SIGLEC6	19	51530733	Silent	SNP	C	C3L-00913_TP	141514	51530733	7086883	227	7463											
SLC27A5	0	.	GRCh38	chr19	58498873	58498873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccgtcgaaagtctggccgGgggctagctgcacagcagcc	7	5	14	15	3	1	0	0	0	1	0	2	1	1	0	4	3	4	4	4	3	2	1	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1808C>T	p.Pro603Leu	p.P603L	ENST00000263093	9/10	166	150	16	108	108	0	strelka-varscan-mutect	SLC27A5,missense_variant,p.Pro603Leu,ENST00000263093,NM_012254.2;SLC27A5,missense_variant,p.Pro519Leu,ENST00000601355,NM_001321196.1;SLC27A5,missense_variant,p.Pro8Leu,ENST00000594786,;CTD-2619J13.27,upstream_gene_variant,,ENST00000619318,;SLC27A5,intron_variant,,ENST00000599700,;SLC27A5,missense_variant,p.Pro8Leu,ENST00000595851,;SLC27A5,non_coding_transcript_exon_variant,,ENST00000601997,;SLC27A5,downstream_gene_variant,,ENST00000594683,;	A	ENST00000263093	Transcript	missense_variant	1918/2361	1808/2073	603/690	P/L	cCc/cTc		1		-1	SLC27A5	HGNC	HGNC:10999	protein_coding	YES	CCDS12983.1	ENSP00000263093	Q9Y2P5		UPI0000072ECE	NM_012254.2	deleterious(0.01)		9/10		Gene3D:3.30.300.30,Pfam_domain:PF13193,hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF99,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	58498873	58498873	G	A	1	0	0	0	0	1	0	0	0	14799	1232	43	3		3	SLC27A5	19	58498873	Missense_Mutation	SNP	G	C3L-00913_TP	6968140	58498873	118743	228	7464											
SIRPB1	0	.	GRCh38	chr20	1571749	1571749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcagacaagttggcagtcCcacgaagagggtccccctgc	9	6	11	15	1	1	2	1	0	0	2	3	3	3	2	4	2	1	2	4	2	2	1	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.722G>T	p.Gly241Val	p.G241V	ENST00000381605	3/6	452	405	47	331	330	1	strelka-varscan-mutect	SIRPB1,missense_variant,p.Gly241Val,ENST00000381605,NM_006065.3;SIRPB1,missense_variant,p.Gly55Val,ENST00000565076,;SIRPB1,intron_variant,,ENST00000381603,NM_001083910.2;SIRPB1,intron_variant,,ENST00000262929,;RP4-576H24.4,intron_variant,,ENST00000564763,;SIRPB1,intron_variant,,ENST00000563840,;RP4-576H24.4,intron_variant,,ENST00000567028,;RP4-576H24.4,intron_variant,,ENST00000566961,;SIRPB1,intron_variant,,ENST00000569629,;	A	ENST00000381605	Transcript	missense_variant	787/3241	722/1197	241/398	G/V	gGg/gTg		1		-1	SIRPB1	HGNC	HGNC:15928	protein_coding	YES	CCDS13019.1	ENSP00000371018	O00241		UPI000036700F	NM_006065.3	deleterious(0.01)		3/6		PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF12																	MODERATE	1	SNV	1			1										PASS		rs895241919	.												A	3	1	21	1571749	1571749	C	A	1	0	0	0	0	1	0	0	0	14596	623	22	2		2	SIRPB1	20	1571749	Missense_Mutation	SNP	C	C3L-00913_TP		1571749	62872418	229	7465											
PLCB4	0	.	GRCh38	chr20	9337165	9337165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaactgcctcttcaaagtgGatgagtttggcttctttctg	7	15	9	10	0	4	1	1	1	3	0	4	2	4	2	2	2	2	2	2	2	2	4	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.124G>A	p.Asp42Asn	p.D42N	ENST00000378501	2/36	248	231	17	197	197	0	strelka-varscan-mutect	PLCB4,missense_variant,p.Asp42Asn,ENST00000378501,NM_000933.3;PLCB4,missense_variant,p.Asp42Asn,ENST00000378493,;PLCB4,missense_variant,p.Asp42Asn,ENST00000378473,NM_001172646.1;PLCB4,missense_variant,p.Asp42Asn,ENST00000278655,NM_182797.2;PLCB4,missense_variant,p.Asp42Asn,ENST00000414679,;PLCB4,missense_variant,p.Asp42Asn,ENST00000407043,;PLCB4,missense_variant,p.Asp42Asn,ENST00000416836,;PLCB4,missense_variant,p.Asp42Asn,ENST00000441846,;PLCB4,missense_variant,p.Asp42Asn,ENST00000437503,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;	A	ENST00000378501	Transcript	missense_variant	139/5833	124/3585	42/1194	D/N	Gat/Aat		1		1	PLCB4	HGNC	HGNC:9059	protein_coding	YES	CCDS13104.1	ENSP00000367762	Q15147		UPI00002069DF	NM_000933.3	deleterious(0)		2/36		Gene3D:2.30.29.30,PIRSF_domain:PIRSF000956,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF106,Superfamily_domains:SSF50729																	MODERATE	1	SNV	5			1										PASS		rs897976423	.												A	3	1	21	9337165	9337165	G	A	1	0	0	0	0	1	0	0	0	12124	1174	41	3		3	PLCB4	20	9337165	Missense_Mutation	SNP	G	C3L-00913_TP	7765416	9337165	55107002	230	7466											
KIAA1755	0	.	GRCh38	chr20	38241367	38241367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagccacctccccacacCgggcttgctccaccttgatg	8	8	8	17	1	0	2	0	2	0	0	2	2	2	2	7	1	2	2	7	1	1	2	rs41282824		C3L-00913_TP	C3L-00913_NB	C	C																c.764G>A	p.Arg255Gln	p.R255Q	ENST00000279024	3/14	447	407	40	314	314	0	strelka-varscan-mutect	KIAA1755,missense_variant,p.Arg255Gln,ENST00000279024,NM_001029864.1;KIAA1755,missense_variant,p.Arg255Gln,ENST00000496900,;KIAA1755,upstream_gene_variant,,ENST00000611812,;	T	ENST00000279024	Transcript	missense_variant	1036/6429	764/3603	255/1200	R/Q	cGg/cAg	rs41282824	1		-1	KIAA1755	HGNC	HGNC:29372	protein_coding	YES	CCDS33467.1	ENSP00000279024	Q5JYT7		UPI000041AADF	NM_001029864.1	tolerated(0.26)		3/14		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF125																	MODERATE	1	SNV	5			1										PASS		rs41282824	.												T	3	4	21	38241367	38241367	C	T	1	0	0	0	0	1	0	0	0	8128	652	23	1		1	KIAA1755	20	38241367	Missense_Mutation	SNP	C	C3L-00913_TP	28904202	38241367	26202800	231	7467											
PTPRT	0	.	GRCh38	chr20	42084752	42084752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccagtcgtcggaccaCtttgagcagagagcgcttgg	7	10	12	12	3	1	2	0	1	1	1	4	4	1	3	2	2	2	2	2	2	0	3	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.4123G>A	p.Val1375Met	p.V1375M	ENST00000373198	30/32	67	62	5	34	34	0	strelka-mutect	PTPRT,missense_variant,p.Val1375Met,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Val1378Met,ENST00000373193,;PTPRT,missense_variant,p.Val1346Met,ENST00000373201,;PTPRT,missense_variant,p.Val1355Met,ENST00000373190,;PTPRT,missense_variant,p.Val1366Met,ENST00000373184,;PTPRT,missense_variant,p.Val1365Met,ENST00000356100,;PTPRT,missense_variant,p.Val1356Met,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Val974Met,ENST00000612229,;PTPRT,missense_variant,p.Val991Met,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	T	ENST00000373198	Transcript	missense_variant	4359/12746	4123/4383	1375/1460	V/M	Gtg/Atg		1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	deleterious(0.03)		30/32		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	21	42084752	42084752	C	T	1	0	0	0	0	1	0	0	0	12967	565	20	3		3	PTPRT	20	42084752	Missense_Mutation	SNP	C	C3L-00913_TP	3843385	42084752	22359415	232	7468											
CTCFL	0	.	GRCh38	chr20	57519330	57519330	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgattaaaacttgacattcTagaagaggtgaacatgcaga	17	9	9	6	1	1	5	0	2	1	3	1	6	1	5	0	1	3	1	0	1	5	4	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.802A>G	p.Arg268Gly	p.R268G	ENST00000423479	4/12	244	218	26	170	169	1	strelka-varscan-mutect	CTCFL,missense_variant,p.Arg268Gly,ENST00000608263,NM_001269041.1;CTCFL,missense_variant,p.Arg268Gly,ENST00000429804,NM_001269046.1;CTCFL,missense_variant,p.Arg268Gly,ENST00000609232,NM_080618.3;CTCFL,missense_variant,p.Arg268Gly,ENST00000243914,;CTCFL,missense_variant,p.Arg268Gly,ENST00000371196,NM_001269042.1,NM_001269040.1;CTCFL,missense_variant,p.Arg268Gly,ENST00000422869,NM_001269047.1;CTCFL,missense_variant,p.Arg268Gly,ENST00000432255,NM_001269048.1;CTCFL,missense_variant,p.Arg268Gly,ENST00000608425,NM_001269045.1;CTCFL,missense_variant,p.Arg268Gly,ENST00000608440,NM_001269044.1;CTCFL,missense_variant,p.Arg268Gly,ENST00000423479,NM_001269043.1;CTCFL,missense_variant,p.Arg63Gly,ENST00000539382,NM_001269050.1;CTCFL,missense_variant,p.Arg63Gly,ENST00000433949,NM_001269049.1;CTCFL,missense_variant,p.Arg6Gly,ENST00000608903,NM_001269055.1;CTCFL,missense_variant,p.Arg6Gly,ENST00000502686,NM_001269054.1;CTCFL,missense_variant,p.Arg268Gly,ENST00000608158,NM_001269052.1;CTCFL,missense_variant,p.Arg268Gly,ENST00000481655,NM_001269051.1;CTCFL,non_coding_transcript_exon_variant,,ENST00000608858,;CTCFL,missense_variant,p.Arg268Gly,ENST00000426658,;CTCFL,missense_variant,p.Arg268Gly,ENST00000422109,;CTCFL,missense_variant,p.Arg268Gly,ENST00000608720,;CTCFL,non_coding_transcript_exon_variant,,ENST00000607923,;CTCFL,non_coding_transcript_exon_variant,,ENST00000608108,;	C	ENST00000423479	Transcript	missense_variant	893/2478	802/2103	268/700	R/G	Aga/Gga		1		-1	CTCFL	HGNC	HGNC:16234	protein_coding	YES	CCDS58780.1	ENSP00000415579	Q8NI51		UPI000157860F	NM_001269043.1	deleterious(0)		4/12		PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF96,hmmpanther:PTHR24375,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	21	57519330	57519330	T	C	1	0	0	0	0	1	0	0	0	3808	1530	53	5		5	CTCFL	20	57519330	Missense_Mutation	SNP	T	C3L-00913_TP	15434578	57519330	6924837	233	7469											
HRH3	0	.	GRCh38	chr20	62218609	62218619	+	Frame_Shift_Del	DEL	CAGCGGCCTGT	CAGCGGCCTGT	-																															agaggccccggccgaaggtcCagcggcctgtcagcacgtag																								novel		C3L-00913_TP	C3L-00913_NB	CAGCGGCCTGT	CAGCGGCCTGT																c.289_299delACAGGCCGCTG	p.Thr97AspfsTer48	p.T97Dfs*48	ENST00000340177	2/3	294	260	34	228	228	0	sindel-varindel-pindel	HRH3,frameshift_variant,p.Thr97AspfsTer48,ENST00000340177,NM_007232.2;HRH3,frameshift_variant,p.Thr97AspfsTer48,ENST00000317393,;HRH3,frameshift_variant,p.Thr97AspfsTer48,ENST00000611492,;	-	ENST00000340177	Transcript	frameshift_variant	574-584/2659	289-299/1338	97-100/445	TGRW/X	ACAGGCCGCTGg/g		1		-1	HRH3	HGNC	HGNC:5184	protein_coding	YES	CCDS13493.1	ENSP00000342560	Q9Y5N1		UPI000012C6ED	NM_007232.2			2/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF292,Superfamily_domains:SSF81321																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	21	62218609	62218609	CAGCGGCCTGT	-	1	0	1	0	1	0	0	0	0	7252	595	21	0		0	HRH3	20	62218609	Frame_Shift_Del	DEL	CAGCGGCCTGT	C3L-00913_TP	4699279	62218609	2225558	234	7470											
COL20A1	0	.	GRCh38	chr20	63329617	63329617	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgttggtcagatgggcagcCctgggcagcagggggctagc	6	7	18	10	0	1	1	1	0	0	1	1	1	1	1	1	5	3	5	1	5	1	2	rs372046790		C3L-00913_TP	C3L-00913_NB	C	C																c.3814C>A	p.Pro1272Thr	p.P1272T	ENST00000358894	35/36	176	154	22	108	108	0	strelka-mutect	COL20A1,missense_variant,p.Pro1285Thr,ENST00000422202,;COL20A1,missense_variant,p.Pro1272Thr,ENST00000358894,NM_020882.2;COL20A1,downstream_gene_variant,,ENST00000415763,;COL20A1,downstream_gene_variant,,ENST00000455906,;COL20A1,non_coding_transcript_exon_variant,,ENST00000496810,;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;COL20A1,non_coding_transcript_exon_variant,,ENST00000471582,;COL20A1,non_coding_transcript_exon_variant,,ENST00000494913,;	A	ENST00000358894	Transcript	missense_variant	3914/4172	3814/3855	1272/1284	P/T	Cct/Act	rs372046790	1		1	COL20A1	HGNC	HGNC:14670	protein_coding	YES	CCDS46628.1	ENSP00000351767	Q9P218		UPI000051910D	NM_020882.2	tolerated(0.05)		35/36		hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF131																	MODERATE	1	SNV	1			1										PASS		rs372046790	.												A	3	1	21	63329617	63329617	C	A	1	0	0	0	0	1	0	0	0	3467	623	22	2		2	COL20A1	20	63329617	Missense_Mutation	SNP	C	C3L-00913_TP	1111008	63329617	1114550	235	7471											
KRTAP27-1	0	.	GRCh38	chr21	30337423	30337423	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taagtagtttggacaactccGgggaagcagttactttgcac	11	11	11	8	1	0	0	0	0	0	0	1	2	1	2	1	3	4	5	1	3	5	5	rs139729864		C3L-00913_TP	C3L-00913_NB	G	G																c.246C>T	p.=	p.P82P	ENST00000382835	1/1	385	334	51	286	286	0	strelka-varscan-mutect	KRTAP27-1,synonymous_variant,p.=,ENST00000382835,NM_001077711.1;	A	ENST00000382835	Transcript	synonymous_variant	272/682	246/624	82/207	P	ccC/ccT	rs139729864,COSM2842165,COSM4101102	1		-1	KRTAP27-1	HGNC	HGNC:33864	protein_coding	YES	CCDS33532.1	ENSP00000372286	Q3LI81		UPI00001618F6	NM_001077711.1			1/1		hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF5,Pfam_domain:PF05287											0,1,1						LOW	1	SNV			0,1,1	1										PASS		rs139729864	.												A	2	1	21	30337423	30337423	G	A	1	0	0	0	0	0	0	0	1	8436	1103	39	1		1	KRTAP27-1	21	30337423	Silent	SNP	G	C3L-00913_TP		30337423	16372560	236	7472											
KRTAP19-3	0	.	GRCh38	chr21	30491861	30491861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagccagaacccagtctgcGgaagctgccacatccacagc	12	4	9	16	1	1	1	0	0	1	1	2	2	2	2	4	1	6	1	4	1	2	0	rs529648956		C3L-00913_TP	C3L-00913_NB	G	G																c.97C>A	p.Arg33Ser	p.R33S	ENST00000334063	1/1	452	418	34	330	330	0	varscan-mutect	KRTAP19-3,missense_variant,p.Arg33Ser,ENST00000334063,NM_181609.3;KRTAP19-2,upstream_gene_variant,,ENST00000334055,NM_181608.1;KRTAP19-4,downstream_gene_variant,,ENST00000334058,NM_181610.1;	T	ENST00000334063	Transcript	missense_variant	125/522	97/246	33/81	R/S	Cgc/Agc	rs529648956	1		-1	KRTAP19-3	HGNC	HGNC:18938	protein_coding	YES	CCDS13596.1	ENSP00000386376	Q7Z4W3		UPI00001A9E52	NM_181609.3	tolerated_low_confidence(0.33)		1/1		Pfam_domain:PF11759																	MODERATE	1	SNV				1										PASS		rs529648956	.												T	3	4	21	30491861	30491861	G	T	1	0	0	0	0	1	0	0	0	8414	1116	39	1		1	KRTAP19-3	21	30491861	Missense_Mutation	SNP	G	C3L-00913_TP	154438	30491861	16218122	237	7473											
KRTAP20-3	0	.	GRCh38	chr21	30642926	30642926	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactacggaggactgggctAtggctatgactgtaaatata	12	11	11	7	1	0	1	0	1	0	0	0	3	0	3	0	4	2	3	0	4	8	7	novel		C3L-00913_TP	C3L-00913_NB	A	A																c.38A>G	p.Tyr13Cys	p.Y13C	ENST00000382826	1/1	215	185	30	165	165	0	strelka-varscan-mutect	KRTAP20-3,missense_variant,p.Tyr13Cys,ENST00000382826,NM_001128077.1;	G	ENST00000382826	Transcript	missense_variant	63/273	38/135	13/44	Y/C	tAt/tGt		1		1	KRTAP20-3	HGNC	HGNC:34001	protein_coding	YES	CCDS46642.1	ENSP00000372276	Q3LI60		UPI00003D4D74	NM_001128077.1	deleterious_low_confidence(0)		1/1		Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	21	30642926	30642926	A	G	1	0	0	0	0	1	0	0	0	8425	449	16	5		5	KRTAP20-3	21	30642926	Missense_Mutation	SNP	A	C3L-00913_TP	151065	30642926	16067057	238	7474											
SCAF4	0	.	GRCh38	chr21	31696580	31696580	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactaacaatggtgcctgTggaggaggaggagaggcagc	14	5	16	6	0	0	1	0	0	0	1	0	5	0	4	1	6	4	1	1	6	4	1	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.948A>C	p.=	p.P316P	ENST00000286835	8/20	85	79	6	70	70	0	varscan-mutect	SCAF4,synonymous_variant,p.=,ENST00000286835,NM_020706.2;SCAF4,synonymous_variant,p.=,ENST00000399804,NM_001145445.1;SCAF4,synonymous_variant,p.=,ENST00000434667,NM_001145444.1;SCAF4,non_coding_transcript_exon_variant,,ENST00000467731,;SCAF4,downstream_gene_variant,,ENST00000485790,;SCAF4,upstream_gene_variant,,ENST00000472318,;	G	ENST00000286835	Transcript	synonymous_variant	1331/4193	948/3444	316/1147	P	ccA/ccC		1		-1	SCAF4	HGNC	HGNC:19304	protein_coding	YES	CCDS33537.1	ENSP00000286835	O95104		UPI0000206D66	NM_020706.2			8/20		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs750594194	.												G	2	3	21	31696580	31696580	T	G	1	0	0	0	0	0	0	0	1	14134	1683	59	5		5	SCAF4	21	31696580	Silent	SNP	T	C3L-00913_TP	1053654	31696580	15013403	239	7475											
KRTAP10-10	0	.	GRCh38	chr21	44637504	44637504	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagagctgctgcgagccCtgctgctgtgccccagcccc	5	6	12	18	1	0	1	0	0	0	1	0	3	0	1	6	0	8	4	6	0	0	0	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.87C>A	p.=	p.P29P	ENST00000380095	1/1	216	172	44	149	149	0	strelka-varscan-mutect	KRTAP10-10,synonymous_variant,p.=,ENST00000380095,NM_181688.2;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;	A	ENST00000380095	Transcript	synonymous_variant	149/1100	87/756	29/251	P	ccC/ccA		1		1	KRTAP10-10	HGNC	HGNC:22972	protein_coding	YES	CCDS33585.1	ENSP00000369438	P60014		UPI00001A95B8	NM_181688.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF61																	LOW		SNV				1										PASS		.	.												A	2	1	21	44637504	44637504	C	A	1	0	0	0	0	0	0	0	1	8389	668	24	2		2	KRTAP10-10	21	44637504	Silent	SNP	C	C3L-00913_TP	12940924	44637504	2072479	240	7476											
KRTAP10-10	0	.	GRCh38	chr21	44637951	44637951	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctagctgccagcctgcttgCtgcaccgcctcctgctgcag	4	10	10	17	1	1	0	0	0	1	0	2	0	2	0	5	0	8	6	5	0	1	2	rs782673603		C3L-00913_TP	C3L-00913_NB	C	C																c.534C>A	p.Cys178Ter	p.C178*	ENST00000380095	1/1	593	558	35	427	427	0	varscan-mutect	KRTAP10-10,stop_gained,p.Cys178Ter,ENST00000380095,NM_181688.2;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;	A	ENST00000380095	Transcript	stop_gained	596/1100	534/756	178/251	C/*	tgC/tgA	rs782673603	1		1	KRTAP10-10	HGNC	HGNC:22972	protein_coding	YES	CCDS33585.1	ENSP00000369438	P60014		UPI00001A95B8	NM_181688.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF61,hmmpanther:PTHR23262																	HIGH		SNV				1										PASS		rs782673603	.												A	4	1	21	44637951	44637951	C	A	1	0	0	0	0	0	1	0	0	8389	805	28	2		2	KRTAP10-10	21	44637951	Nonsense_Mutation	SNP	C	C3L-00913_TP	447	44637951	2072032	241	7477											
SLC25A18	0	.	GRCh38	chr22	17581387	17581387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgaagacggctcgggCggagggcttcttcggcatgt	6	9	16	10	4	1	3	0	2	1	1	3	4	1	4	1	5	0	3	1	5	1	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.173C>T	p.Ala58Val	p.A58V	ENST00000327451	5/11	194	171	23	129	129	0	strelka-varscan-mutect	SLC25A18,missense_variant,p.Ala58Val,ENST00000327451,NM_031481.2;SLC25A18,missense_variant,p.Ala58Val,ENST00000399813,NM_001303484.1;AC004019.13,non_coding_transcript_exon_variant,,ENST00000443935,;AC004019.13,non_coding_transcript_exon_variant,,ENST00000611039,;SLC25A18,non_coding_transcript_exon_variant,,ENST00000497401,;SLC25A18,non_coding_transcript_exon_variant,,ENST00000467228,;	T	ENST00000327451	Transcript	missense_variant	711/2244	173/948	58/315	A/V	gCg/gTg		1		1	SLC25A18	HGNC	HGNC:10988	protein_coding	YES	CCDS13744.1	ENSP00000329033	Q9H1K4	A0A024R0W0	UPI00000015FA	NM_031481.2	tolerated(0.08)		5/11		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF277,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	17581387	17581387	C	T	1	0	0	0	0	1	0	0	0	14745	768	27	1		1	SLC25A18	22	17581387	Missense_Mutation	SNP	C	C3L-00913_TP		17581387	33237081	242	7478											
COMT	0	.	GRCh38	chr22	19963678	19963678	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgcctgctgtcaccaggggcGaggctcatcaccatcgagat	8	7	12	14	3	3	1	3	0	0	1	4	3	3	1	3	3	1	2	3	3	0	0	rs769223		C3L-00913_TP	C3L-00913_NB	G	G																c.402G>C	p.=	p.A134A	ENST00000361682	4/6	437	404	33	349	349	0	strelka-varscan-mutect	COMT,synonymous_variant,p.=,ENST00000361682,NM_000754.3,NM_001135161.1;COMT,synonymous_variant,p.=,ENST00000403184,;COMT,synonymous_variant,p.=,ENST00000403710,;COMT,synonymous_variant,p.=,ENST00000407537,;COMT,synonymous_variant,p.=,ENST00000406520,NM_001135162.1;COMT,synonymous_variant,p.=,ENST00000449653,NM_007310.2;COMT,synonymous_variant,p.=,ENST00000412786,;COMT,upstream_gene_variant,,ENST00000428707,;COMT,upstream_gene_variant,,ENST00000585066,;COMT,non_coding_transcript_exon_variant,,ENST00000493893,;COMT,synonymous_variant,p.=,ENST00000207636,;COMT,downstream_gene_variant,,ENST00000467943,;	C	ENST00000361682	Transcript	synonymous_variant	784/2437	402/816	134/271	A	gcG/gcC	rs769223	1		1	COMT	HGNC	HGNC:2228	protein_coding	YES	CCDS13770.1	ENSP00000354511	P21964	A0A140VJG8	UPI0000000CBF	NM_000754.3,NM_001135161.1			4/6		Gene3D:3.40.50.150,Pfam_domain:PF01596,PIRSF_domain:PIRSF037177,PROSITE_profiles:PS51682,hmmpanther:PTHR10509,hmmpanther:PTHR10509:SF2,Superfamily_domains:SSF53335												1866336916816940					LOW	1	SNV	1			1										PASS		rs769223	.												C	2	2	21	19963678	19963678	G	C	1	0	0	0	0	0	0	0	1	3517	1045	37	4		4	COMT	22	19963678	Silent	SNP	G	C3L-00913_TP	2382291	19963678	30854790	243	7479											
SEZ6L	0	.	GRCh38	chr22	26347721	26347721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacgtttctcttttaaagagGtatcaaggaatgactcctgc	11	13	9	8	1	2	2	1	1	1	1	4	4	3	3	1	2	1	2	1	2	5	4	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.2215G>T	p.Val739Leu	p.V739L	ENST00000248933	11/17	246	209	37	166	166	0	strelka-varscan-mutect	SEZ6L,missense_variant,p.Val739Leu,ENST00000529632,NM_001184775.1;SEZ6L,missense_variant,p.Val739Leu,ENST00000360929,NM_001184776.1;SEZ6L,missense_variant,p.Val739Leu,ENST00000404234,NM_001184773.1;SEZ6L,missense_variant,p.Val512Leu,ENST00000402979,;SEZ6L,missense_variant,p.Val739Leu,ENST00000248933,NM_021115.4;SEZ6L,missense_variant,p.Val739Leu,ENST00000629590,NM_001184774.1;SEZ6L,missense_variant,p.Val512Leu,ENST00000403121,;SEZ6L,missense_variant,p.Val739Leu,ENST00000343706,NM_001184777.1;SEZ6L,upstream_gene_variant,,ENST00000483291,;	T	ENST00000248933	Transcript	missense_variant,splice_region_variant	2310/3248	2215/3075	739/1024	V/L	Gta/Tta		1		1	SEZ6L	HGNC	HGNC:10763	protein_coding	YES	CCDS13833.1	ENSP00000248933	Q9BYH1		UPI0000136779	NM_021115.4	deleterious(0)		11/17		PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81,SMART_domains:SM00042																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	26347721	26347721	G	T	1	0	0	0	0	1	0	0	0	14422	1275	44	2		2	SEZ6L	22	26347721	Missense_Mutation	SNP	G	C3L-00913_TP	6384043	26347721	24470747	244	7480											
SLC5A4	0	.	GRCh38	chr22	32235023	32235023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgattgtcaagttgtccccCtcgactacggatggggtggc	6	11	13	11	2	1	1	1	1	0	0	3	3	2	2	2	4	1	1	2	4	2	3	rs781767196		C3L-00913_TP	C3L-00913_NB	C	C																c.735G>T	p.Glu245Asp	p.E245D	ENST00000266086	8/15	300	264	36	245	245	0	strelka-varscan-mutect	SLC5A4,missense_variant,p.Glu245Asp,ENST00000266086,NM_014227.2;RP1-90G24.10,intron_variant,,ENST00000434942,;	A	ENST00000266086	Transcript	missense_variant	747/2030	735/1980	245/659	E/D	gaG/gaT	rs781767196	1		-1	SLC5A4	HGNC	HGNC:11039	protein_coding	YES	CCDS13903.1	ENSP00000266086	Q9NY91		UPI00001359F4	NM_014227.2	tolerated(0.62)		8/15		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF112,TIGRFAM_domain:TIGR00813																	MODERATE	1	SNV	1			1										PASS		rs781767196	.												A	3	1	21	32235023	32235023	C	A	1	0	0	0	0	1	0	0	0	14950	680	24	2		2	SLC5A4	22	32235023	Missense_Mutation	SNP	C	C3L-00913_TP	5887302	32235023	18583445	245	7481											
APOBEC3A	0	.	GRCh38	chr22	38961596	38961596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtatcttcgctgcccgCatctatgattacgaccccct	6	12	7	16	4	2	1	0	1	2	0	3	2	2	1	3	0	3	3	3	0	3	4	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.384C>T	p.=	p.R128R	ENST00000402255	4/6	674	631	43	462	461	1	varscan-mutect	APOBEC3A,synonymous_variant,p.=,ENST00000402255,;APOBEC3A,synonymous_variant,p.=,ENST00000249116,NM_001270406.1,NM_145699.3;APOBEC3A,synonymous_variant,p.=,ENST00000618553,;APOBEC3A,downstream_gene_variant,,ENST00000488758,;	T	ENST00000402255	Transcript	synonymous_variant	588/1478	384/600	128/199	R	cgC/cgT		1		1	APOBEC3A	HGNC	HGNC:17343	protein_coding	YES	CCDS13981.1	ENSP00000384359	P31941	A0A0K0MJ49	UPI00001318F4				4/6		PROSITE_profiles:PS51747,hmmpanther:PTHR13857:SF14,hmmpanther:PTHR13857,Pfam_domain:PF08210,Superfamily_domains:SSF53927																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	21	38961596	38961596	C	T	1	0	0	0	0	0	0	0	1	910	697	25	3		3	APOBEC3A	22	38961596	Silent	SNP	C	C3L-00913_TP	6726573	38961596	11856872	246	7482											
FAM118A	0	.	GRCh38	chr22	45332661	45332661	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgttttgaccactttccAggatatgtgcaagaccttgc	9	13	9	10	0	0	2	0	1	0	1	1	4	1	3	3	1	2	2	3	1	2	5	novel		C3L-00913_TP	C3L-00913_NB	A	A																c.888A>G	p.=	p.P296P	ENST00000216214	7/10	176	166	10	117	117	0	strelka-varscan-mutect	FAM118A,synonymous_variant,p.=,ENST00000216214,NM_001104595.1;FAM118A,synonymous_variant,p.=,ENST00000441876,NM_017911.2;FAM118A,downstream_gene_variant,,ENST00000405673,;FAM118A,downstream_gene_variant,,ENST00000427777,;FAM118A,non_coding_transcript_exon_variant,,ENST00000459849,;FAM118A,downstream_gene_variant,,ENST00000476754,;FAM118A,upstream_gene_variant,,ENST00000483102,;FAM118A,upstream_gene_variant,,ENST00000479180,;FAM118A,downstream_gene_variant,,ENST00000476478,;FAM118A,non_coding_transcript_exon_variant,,ENST00000487732,;FAM118A,downstream_gene_variant,,ENST00000477714,;FAM118A,upstream_gene_variant,,ENST00000462361,;	G	ENST00000216214	Transcript	synonymous_variant	1722/3458	888/1074	296/357	P	ccA/ccG		1		1	FAM118A	HGNC	HGNC:1313	protein_coding	YES	CCDS14065.1	ENSP00000216214	Q9NWS6	A0A024R4V3	UPI000022B897	NM_001104595.1			7/10		hmmpanther:PTHR28623:SF2,hmmpanther:PTHR28623																	LOW	1	SNV	2			1										PASS		.	.												G	2	3	21	45332661	45332661	A	G	1	0	0	0	0	0	0	0	1	5270	175	7	5		5	FAM118A	22	45332661	Silent	SNP	A	C3L-00913_TP	6371065	45332661	5485807	247	7483											
TBC1D22A	0	.	GRCh38	chr22	47037179	47037179	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgcgttgtaccatccGcctgtgggacacctaccagg	6	8	11	16	2	0	0	0	0	0	0	1	1	1	1	7	2	3	2	7	2	2	3	rs753037531		C3L-00913_TP	C3L-00913_NB	G	G																c.1310G>C	p.Arg437Pro	p.R437P	ENST00000337137	11/13	261	219	42	174	174	0	strelka-varscan-mutect	TBC1D22A,missense_variant,p.Arg407Pro,ENST00000380995,NM_001284304.1;TBC1D22A,missense_variant,p.Arg437Pro,ENST00000337137,NM_014346.3;TBC1D22A,missense_variant,p.Arg390Pro,ENST00000406733,NM_001284305.1;TBC1D22A,missense_variant,p.Arg378Pro,ENST00000407381,;TBC1D22A,missense_variant,p.Arg359Pro,ENST00000355704,NM_001284303.1;TBC1D22A,3_prime_UTR_variant,,ENST00000441162,;TBC1D22A,3_prime_UTR_variant,,ENST00000394449,;	C	ENST00000337137	Transcript	missense_variant	1476/3787	1310/1554	437/517	R/P	cGc/cCc	rs753037531,COSM1416921	1		1	TBC1D22A	HGNC	HGNC:1309	protein_coding	YES	CCDS14078.1	ENSP00000336724	Q8WUA7		UPI0000128722	NM_014346.3	deleterious(0)		11/13		PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF255,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs753037531	.												C	3	2	21	47037179	47037179	G	C	1	0	0	0	0	1	0	0	0	16011	1087	38	4		4	TBC1D22A	22	47037179	Missense_Mutation	SNP	G	C3L-00913_TP	1704518	47037179	3781289	248	7484											
TUBGCP6	0	.	GRCh38	chr22	50221564	50221564	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggtgcctccccaggagctGaggggggcaggtccaagtta	7	6	17	11	1	0	1	0	1	0	0	2	2	2	2	4	6	2	3	4	6	2	1	rs775980514		C3L-00913_TP	C3L-00913_NB	G	G																c.2795C>G	p.Ser932Ter	p.S932*	ENST00000248846	16/25	85	78	7	69	69	0	strelka-varscan-mutect	TUBGCP6,stop_gained,p.Ser932Ter,ENST00000439308,;TUBGCP6,stop_gained,p.Ser932Ter,ENST00000248846,NM_020461.3;SELO,downstream_gene_variant,,ENST00000380903,NM_031454.1;SELO,downstream_gene_variant,,ENST00000611222,;TUBGCP6,upstream_gene_variant,,ENST00000425018,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;SELO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000498611,;	C	ENST00000248846	Transcript	stop_gained	2900/5612	2795/5460	932/1819	S/*	tCa/tGa	rs775980514,COSM4484303	1		-1	TUBGCP6	HGNC	HGNC:18127	protein_coding	YES	CCDS14087.1	ENSP00000248846	Q96RT7		UPI000013CC55	NM_020461.3			16/25		Low_complexity_(Seg):seg,Pfam_domain:PF04130											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs775980514	.												C	4	2	21	50221564	50221564	G	C	1	0	0	0	0	0	1	0	0	17280	1294	45	4		4	TUBGCP6	22	50221564	Nonsense_Mutation	SNP	G	C3L-00913_TP	3184385	50221564	596904	249	7485											
TLR7	0	.	GRCh38	chrX	12886511	12886511	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaaattggggatgctaaaTttctgcattttctccccagc	11	13	8	9	0	2	1	0	0	2	1	3	2	2	2	2	2	3	2	2	2	4	5	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.1003T>A	p.Phe335Ile	p.F335I	ENST00000380659	3/3	185	141	44	124	124	0	strelka-varscan-mutect	TLR7,missense_variant,p.Phe335Ile,ENST00000380659,NM_016562.3;	A	ENST00000380659	Transcript	missense_variant	1142/5011	1003/3150	335/1049	F/I	Ttt/Att		1		1	TLR7	HGNC	HGNC:15631	protein_coding	YES	CCDS14151.1	ENSP00000370034	Q9NYK1	B2R9N9	UPI000004BAF6	NM_016562.3	deleterious(0)		3/3		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF222,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	21	12886511	12886511	T	A	1	0	0	0	0	1	0	0	0	16402	1493	52	4		4	TLR7	23	12886511	Missense_Mutation	SNP	T	C3L-00913_TP		12886511	143154384	250	7486											
EGFL6	0	.	GRCh38	chrX	13603427	13603427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggccccaaatggaagaGactgtctaggtacaacagca	13	6	11	11	0	1	1	0	0	1	1	1	3	1	2	3	3	3	2	3	3	5	2	rs771301705		C3L-00913_TP	C3L-00913_NB	G	G																c.511G>T	p.Asp171Tyr	p.D171Y	ENST00000380602	5/12	78	52	26	56	56	0	strelka-varscan-mutect	EGFL6,missense_variant,p.Asp171Tyr,ENST00000361306,NM_015507.3;EGFL6,missense_variant,p.Asp171Tyr,ENST00000380602,NM_001167890.1;	T	ENST00000380602	Transcript	missense_variant	751/2385	511/1665	171/554	D/Y	Gac/Tac	rs771301705	1		1	EGFL6	HGNC	HGNC:3235	protein_coding	YES	CCDS55370.1	ENSP00000369976	Q8IUX8		UPI0000034CAE	NM_001167890.1	deleterious(0)		5/12		Gene3D:2.10.25.10,hmmpanther:PTHR24050,hmmpanther:PTHR24050:SF18,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		rs771301705	.												T	3	4	21	13603427	13603427	G	T	1	0	0	0	0	1	0	0	0	4799	942	33	2		2	EGFL6	23	13603427	Missense_Mutation	SNP	G	C3L-00913_TP	716916	13603427	142437468	251	7487											
CNKSR2	0	.	GRCh38	chrX	21609560	21609562	+	In_Frame_Del	DEL	GAG	GAG	-																															aacccccagaggtggaggaaGaggaggaggaggaggaggag																								rs778488952		C3L-00913_TP	C3L-00913_NB	GAG	GAG																c.2655_2657delGGA	p.Glu886del	p.E886del	ENST00000379510	20/22	88	75	13	60	60	0	sindel-varindel	CNKSR2,inframe_deletion,p.Glu856del,ENST00000425654,NM_001168647.1;CNKSR2,inframe_deletion,p.Glu886del,ENST00000379510,NM_014927.3;CNKSR2,inframe_deletion,p.Glu886del,ENST00000279451,NM_001168648.1;CNKSR2,inframe_deletion,p.Glu837del,ENST00000543067,NM_001168649.1;	-	ENST00000379510	Transcript	inframe_deletion	2671-2673/5315	2635-2637/3105	879/1034	E/-	GAG/-	rs778488952,COSM1745083,COSM5082983	1		1	CNKSR2	HGNC	HGNC:19701	protein_coding	YES	CCDS14198.1	ENSP00000368824	Q8WXI2		UPI0000070D72	NM_014927.3			20/22		Low_complexity_(Seg):seg,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF21											0,1,1						MODERATE	1	deletion	1	20	0,1,1	1										PASS		.	.												-	7	5	21	21609560	21609560	GAG	-	1	0	1	0	1	0	0	0	0	3387	943	33	0		0	CNKSR2	23	21609560	In_Frame_Del	DEL	GAG	C3L-00913_TP	8006133	21609560	134431335	252	7488											
MAGEB18	0	.	GRCh38	chrX	26139240	26139240	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttcaaatgaaggtgcCagcagccaagatgagaaaag	16	6	12	7	0	1	3	1	2	0	2	1	4	1	3	2	1	4	3	2	1	5	1	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.255C>A	p.=	p.A85A	ENST00000325250	2/3	222	167	55	158	156	2	strelka-varscan-mutect	MAGEB18,synonymous_variant,p.=,ENST00000325250,NM_173699.3;	A	ENST00000325250	Transcript	synonymous_variant	442/1811	255/1032	85/343	A	gcC/gcA		1		1	MAGEB18	HGNC	HGNC:28515	protein_coding	YES	CCDS14216.1	ENSP00000314543	Q96M61		UPI00001415E3	NM_173699.3			2/3		hmmpanther:PTHR11736:SF23,hmmpanther:PTHR11736,Pfam_domain:PF12440,SMART_domains:SM01392																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	21	26139240	26139240	C	A	1	0	0	0	0	0	0	0	1	9091	581	21	2		2	MAGEB18	23	26139240	Silent	SNP	C	C3L-00913_TP	4529680	26139240	129901655	253	7489											
FAM47A	0	.	GRCh38	chrX	34130840	34130840	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgtcttgggatgttccGggtggggatgggacacctga	6	10	18	7	2	1	1	0	1	1	0	2	5	2	4	2	5	0	1	2	5	0	2	rs773204999		C3L-00913_TP	C3L-00913_NB	G	G																c.1439C>A	p.Pro480Gln	p.P480Q	ENST00000346193	1/1	37	30	7	43	43	0	strelka-varscan-mutect	FAM47A,missense_variant,p.Pro480Gln,ENST00000346193,NM_203408.3;FAM47A,missense_variant,p.Pro480Gln,ENST00000613251,;	T	ENST00000346193	Transcript	missense_variant	1472/2556	1439/2376	480/791	P/Q	cCg/cAg	rs773204999	1		-1	FAM47A	HGNC	HGNC:29962	protein_coding	YES	CCDS43926.1	ENSP00000345029	Q5JRC9		UPI000013F1F4	NM_203408.3	deleterious(0.05)		1/1		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF200,Pfam_domain:PF14642																	MODERATE	1	SNV				1										PASS		rs773204999	.												T	3	4	21	34130840	34130840	G	T	1	0	0	0	0	1	0	0	0	5447	1116	39	1		1	FAM47A	23	34130840	Missense_Mutation	SNP	G	C3L-00913_TP	7991600	34130840	121910055	254	7490											
FAM47B	0	.	GRCh38	chrX	34943395	34943395	+	Frame_Shift_Del	DEL	C	C	-																															tatccctgtggggaatcctgCccgcggcctcccgagactcc																								novel		C3L-00913_TP	C3L-00913_NB	C	C																c.566delC	p.Pro189ArgfsTer161	p.P189Rfs*161	ENST00000329357	1/1	113	90	23	103	103	0	sindel-varindel-pindel	FAM47B,frameshift_variant,p.Pro189ArgfsTer161,ENST00000329357,NM_152631.2;	-	ENST00000329357	Transcript	frameshift_variant	600/2120	564/1938	188/645	C/X	tgC/tg		1		1	FAM47B	HGNC	HGNC:26659	protein_coding	YES	CCDS14236.1	ENSP00000328307	Q8NA70		UPI000013F47B	NM_152631.2			1/1		Pfam_domain:PF14642,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF192																	HIGH	1	deletion		2		1										PASS		.	.												-	7	5	21	34943395	34943395	C	-	1	0	1	0	1	0	0	0	0	5448	747	26	0		0	FAM47B	23	34943395	Frame_Shift_Del	DEL	C	C3L-00913_TP	812555	34943395	121097500	255	7491											
PPP1R3F	0	.	GRCh38	chrX	49286045	49286045	+	Missense_Mutation	SNP	A	A	G																															gcctttcctggagcccagtcAgcagcaggcagaggccacat																								novel		C3L-00913_TP	C3L-00913_NB	A	A																c.1355A>G	p.Gln452Arg	p.Q452R	ENST00000055335	4/4	24	20	4	20	20	0	strelka-mutect	PPP1R3F,missense_variant,p.Gln452Arg,ENST00000055335,NM_033215.4;PPP1R3F,missense_variant,p.Gln106Arg,ENST00000376188,;PPP1R3F,missense_variant,p.Gln106Arg,ENST00000466508,;PPP1R3F,missense_variant,p.Gln106Arg,ENST00000495799,NM_001184745.1;PPP1R3F,intron_variant,,ENST00000471261,;	G	ENST00000055335	Transcript	missense_variant	1371/3421	1355/2400	452/799	Q/R	cAg/cGg		1		1	PPP1R3F	HGNC	HGNC:14944	protein_coding	YES	CCDS35254.1	ENSP00000055335	Q6ZSY5		UPI00001D7BA8	NM_033215.4	deleterious_low_confidence(0.05)		4/4		hmmpanther:PTHR12307:SF5,hmmpanther:PTHR12307																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	21	49286045	49286045	A	G	1	0	0	0	0	1	0	0	0	12496	188	7	5		5	PPP1R3F	23	49286045	Missense_Mutation	SNP	A	C3L-00913_TP	14342650	49286045	106754850	256	7492	171	2									
PPP1R3F	0	.	GRCh38	chrX	49286046	49286046	+	Missense_Mutation	SNP	G	G	T																															cctttcctggagcccagtcaGcagcaggcagaggccacatg																								novel		C3L-00913_TP	C3L-00913_NB	G	G																c.1356G>T	p.Gln452His	p.Q452H	ENST00000055335	4/4	23	19	4	20	20	0	strelka-mutect	PPP1R3F,missense_variant,p.Gln452His,ENST00000055335,NM_033215.4;PPP1R3F,missense_variant,p.Gln106His,ENST00000376188,;PPP1R3F,missense_variant,p.Gln106His,ENST00000466508,;PPP1R3F,missense_variant,p.Gln106His,ENST00000495799,NM_001184745.1;PPP1R3F,intron_variant,,ENST00000471261,;	T	ENST00000055335	Transcript	missense_variant	1372/3421	1356/2400	452/799	Q/H	caG/caT		1		1	PPP1R3F	HGNC	HGNC:14944	protein_coding	YES	CCDS35254.1	ENSP00000055335	Q6ZSY5		UPI00001D7BA8	NM_033215.4	deleterious_low_confidence(0.04)		4/4		hmmpanther:PTHR12307:SF5,hmmpanther:PTHR12307																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	21	49286046	49286046	G	T	1	0	0	0	0	1	0	0	0	12496	962	34	2		2	PPP1R3F	23	49286046	Missense_Mutation	SNP	G	C3L-00913_TP	1	49286046	106754849	257	7493	171	2									
VSIG4	0	.	GRCh38	chrX	66032592	66032592	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaaggtacttagggttgcTactttgatgggttcctggtt	7	16	13	5	0	0	1	0	1	0	0	1	1	1	1	1	4	3	6	1	4	4	8	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.570A>C	p.=	p.V190V	ENST00000374737	3/8	255	198	57	168	168	0	strelka-varscan-mutect	VSIG4,synonymous_variant,p.=,ENST00000455586,NM_001184830.1,NM_001184831.1,NM_001257403.1;VSIG4,synonymous_variant,p.=,ENST00000374737,NM_007268.2;VSIG4,synonymous_variant,p.=,ENST00000427538,;VSIG4,intron_variant,,ENST00000412866,NM_001100431.1;	G	ENST00000374737	Transcript	synonymous_variant	679/1834	570/1200	190/399	V	gtA/gtC		1		-1	VSIG4	HGNC	HGNC:17032	protein_coding	YES	CCDS14383.1	ENSP00000363869	Q9Y279		UPI000006F146	NM_007268.2			3/8		PROSITE_profiles:PS50835,hmmpanther:PTHR15466:SF2,hmmpanther:PTHR15466,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs1297300550	.												G	2	3	21	66032592	66032592	T	G	1	0	0	0	0	0	0	0	1	17776	1509	53	5		5	VSIG4	23	66032592	Silent	SNP	T	C3L-00913_TP	16746546	66032592	90008303	258	7494											
MAGEE1	0	.	GRCh38	chrX	76428509	76428509	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtggtgcccacccctgaTgagggaccaagcacctccgt	7	7	11	16	2	0	2	0	2	0	0	2	3	2	3	7	2	2	1	7	2	1	0	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.579T>A	p.Asp193Glu	p.D193E	ENST00000361470	1/1	196	147	49	144	144	0	strelka-varscan-mutect	MAGEE1,missense_variant,p.Asp193Glu,ENST00000361470,NM_020932.2;	A	ENST00000361470	Transcript	missense_variant	786/3630	579/2874	193/957	D/E	gaT/gaA		1		1	MAGEE1	HGNC	HGNC:24934	protein_coding	YES	CCDS14433.1	ENSP00000354912	Q9HCI5		UPI000006F138	NM_020932.2	deleterious_low_confidence(0.05)		1/1																			MODERATE	1	SNV				1										PASS		.	.												A	3	1	21	76428509	76428509	T	A	1	0	0	0	0	1	0	0	0	9103	1461	51	4		4	MAGEE1	23	76428509	Missense_Mutation	SNP	T	C3L-00913_TP	10395917	76428509	79612386	259	7495											
VSIG1	0	.	GRCh38	chrX	108058189	108058189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccataagaaggagatGgagccaatttctgtaaggac	13	11	10	7	0	2	2	0	0	2	2	3	5	3	4	2	3	1	1	2	3	4	5	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.201G>A	p.Met67Ile	p.M67I	ENST00000415430	2/8	64	49	15	49	49	0	strelka-varscan-mutect	VSIG1,missense_variant,p.Met67Ile,ENST00000415430,NM_001170553.1;VSIG1,missense_variant,p.Met67Ile,ENST00000217957,NM_182607.4;VSIG1,missense_variant,p.Met67Ile,ENST00000458383,;	A	ENST00000415430	Transcript	missense_variant	362/3236	201/1272	67/423	M/I	atG/atA		1		1	VSIG1	HGNC	HGNC:28675	protein_coding	YES	CCDS55474.1	ENSP00000402219	Q86XK7		UPI00017A7E2F	NM_001170553.1	tolerated(0.21)		2/8		PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF115,SMART_domains:SM00409,SMART_domains:SM00406,SMART_domains:SM00408																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	21	108058189	108058189	G	A	1	0	0	0	0	1	0	0	0	17772	1348	47	3		3	VSIG1	23	108058189	Missense_Mutation	SNP	G	C3L-00913_TP	31629680	108058189	47982706	260	7496											
HTR2C	0	.	GRCh38	chrX	114906863	114906863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatacggccgaggaagaGaactctgcaaaccctaacca	16	4	10	11	2	1	1	0	0	1	1	1	5	1	3	3	3	5	1	3	3	6	2	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.825G>T	p.Glu275Asp	p.E275D	ENST00000276198	6/6	291	224	67	191	191	0	strelka-varscan-mutect	HTR2C,stop_gained,p.Glu244Ter,ENST00000371950,NM_001256761.2;HTR2C,missense_variant,p.Glu275Asp,ENST00000276198,NM_000868.3;HTR2C,missense_variant,p.Glu275Asp,ENST00000371951,NM_001256760.2;	T	ENST00000276198	Transcript	missense_variant	1553/4751	825/1377	275/458	E/D	gaG/gaT		1		1	HTR2C	HGNC	HGNC:5295	protein_coding	YES	CCDS14564.1	ENSP00000276198	P28335		UPI000014653A	NM_000868.3	tolerated(0.67)		6/6		Pfam_domain:PF00001,SMART_domains:SM01381,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF32,hmmpanther:PTHR24247,Prints_domain:PR00517																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	21	114906863	114906863	G	T	1	0	0	0	0	1	0	0	0	7339	943	33	2		2	HTR2C	23	114906863	Missense_Mutation	SNP	G	C3L-00913_TP	6848674	114906863	41134032	261	7497											
RP13-347D8.7	0	.	GRCh38	chrX	119073397	119073397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgagaggcctcggggaggagGagggtgagcaggcggcaggc	8	3	23	7	2	0	2	0	2	0	1	1	6	0	5	1	9	1	2	1	9	0	0	novel		C3L-00913_TP	C3L-00913_NB	G	G																c.172G>A	p.Glu58Lys	p.E58K	ENST00000620151	1/3	96	71	25	71	71	0	strelka-varscan-mutect	RP13-347D8.7,missense_variant,p.Glu58Lys,ENST00000620151,;	A	ENST00000620151	Transcript	missense_variant	172/1147	172/975	58/324	E/K	Gag/Aag		1		1	RP13-347D8.7	Clone_based_vega_gene		protein_coding	YES		ENSP00000488984		A0A0U1RQG5	UPI000719A0D1		tolerated(0.06)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR32157,hmmpanther:PTHR32157:SF2,Pfam_domain:PF15623																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	21	119073397	119073397	G	A	1	0	0	0	0	1	0	0	0	13772	1175	41	3		3	RP13-347D8.7	23	119073397	Missense_Mutation	SNP	G	C3L-00913_TP	4166534	119073397	36967498	262	7498											
TENM1	0	.	GRCh38	chrX	124737160	124737160	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtggcggtgggaggggTctgaaggtgaactggttgtg	6	9	23	3	1	1	2	0	2	1	0	1	4	1	4	0	9	1	1	0	9	2	1	novel		C3L-00913_TP	C3L-00913_NB	T	T																c.573A>G	p.=	p.R191R	ENST00000422452	4/32	118	108	10	80	80	0	strelka-varscan-mutect	TENM1,synonymous_variant,p.=,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,synonymous_variant,p.=,ENST00000371130,NM_014253.3;	C	ENST00000422452	Transcript	synonymous_variant	637/12891	573/8199	191/2732	R	agA/agG		1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1			4/32		PROSITE_profiles:PS51361,hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219,Pfam_domain:PF06484																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	21	124737160	124737160	T	C	1	0	0	0	0	0	0	0	1	16171	1664	58	5		5	TENM1	23	124737160	Silent	SNP	T	C3L-00913_TP	5663763	124737160	31303735	263	7499											
ADGRG4	0	.	GRCh38	chrX	136346244	136346244	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaagaaaagaagcaacttcCcattatcttatgagaaaatc	19	9	5	8	0	1	3	0	1	1	3	3	4	2	3	1	0	2	1	1	0	9	3	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.2538C>T	p.=	p.S846S	ENST00000394143	6/26	136	102	34	88	88	0	strelka-varscan-mutect	ADGRG4,synonymous_variant,p.=,ENST00000394143,NM_153834.3;ADGRG4,synonymous_variant,p.=,ENST00000370652,;ADGRG4,synonymous_variant,p.=,ENST00000394141,;	T	ENST00000394143	Transcript	synonymous_variant	2829/9931	2538/9243	846/3080	S	tcC/tcT		1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3			6/26																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	21	136346244	136346244	C	T	1	0	0	0	0	0	0	0	1	371	610	22	3		3	ADGRG4	23	136346244	Silent	SNP	C	C3L-00913_TP	11609084	136346244	19694651	264	7500											
ADGRG4	0	.	GRCh38	chrX	136347099	136347099	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccacccttttctctacCtcagttgatacagtaacccc	10	11	5	15	0	2	2	1	1	1	1	3	3	2	2	5	0	3	2	5	0	3	6			C3L-00913_TP	C3L-00913_NB	C	C																c.3393C>A	p.=	p.T1131T	ENST00000394143	6/26	126	90	36	103	103	0	strelka-varscan-mutect	ADGRG4,synonymous_variant,p.=,ENST00000394143,NM_153834.3;ADGRG4,synonymous_variant,p.=,ENST00000370652,;ADGRG4,synonymous_variant,p.=,ENST00000394141,;	A	ENST00000394143	Transcript	synonymous_variant	3684/9931	3393/9243	1131/3080	T	acC/acA	COSM1331234	1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3			6/26													1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	21	136347099	136347099	C	A	1	0	0	0	0	0	0	0	1	371	668	24	2		2	ADGRG4	23	136347099	Silent	SNP	C	C3L-00913_TP	855	136347099	19693796	265	7501											
CD40LG	0	.	GRCh38	chrX	136648305	136648305	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggccactggactgcccatCagcatgaaaatttttatgta	11	11	9	10	1	1	1	1	1	0	0	1	2	1	2	2	2	2	2	2	2	4	4	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.57C>T	p.=	p.I19I	ENST00000370629	1/5	273	209	64	189	189	0	strelka-varscan-mutect	CD40LG,synonymous_variant,p.=,ENST00000370629,NM_000074.2;CD40LG,synonymous_variant,p.=,ENST00000370628,;	T	ENST00000370629	Transcript	synonymous_variant	113/1817	57/786	19/261	I	atC/atT		1		1	CD40LG	HGNC	HGNC:11935	protein_coding	YES	CCDS14659.1	ENSP00000359663	P29965		UPI00000315E7	NM_000074.2			1/5		hmmpanther:PTHR11471:SF5,hmmpanther:PTHR11471,PIRSF_domain:PIRSF016527																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	21	136648305	136648305	C	T	1	0	0	0	0	0	0	0	1	2720	816	29	3		3	CD40LG	23	136648305	Silent	SNP	C	C3L-00913_TP	301206	136648305	19392590	266	7502											
SLITRK2	0	.	GRCh38	chrX	145824239	145824239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcggtcgcttagtgtgtCtcctagttcctatcctgaac	6	14	8	13	2	1	1	0	1	1	0	6	1	3	1	4	1	1	2	4	1	4	4	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.1814C>T	p.Ser605Phe	p.S605F	ENST00000370490	1/1	170	150	20	121	121	0	strelka-varscan-mutect	SLITRK2,missense_variant,p.Ser605Phe,ENST00000370490,NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2;SLITRK2,missense_variant,p.Ser605Phe,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,NM_004709.2;	T	ENST00000370490	Transcript	missense_variant	6069/7672	1814/2538	605/845	S/F	tCt/tTt		1		1	SLITRK2	HGNC	HGNC:13449	protein_coding	YES	CCDS14680.1	ENSP00000359521	Q9H156		UPI000004E64B	NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2	tolerated(0.33)		1/1		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF36																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	21	145824239	145824239	C	T	1	0	0	0	0	1	0	0	0	15034	913	32	3		3	SLITRK2	23	145824239	Missense_Mutation	SNP	C	C3L-00913_TP	9175934	145824239	10216656	267	7503											
MAMLD1	0	.	GRCh38	chrX	150470480	150470480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccagtgcctcagtggcatCacgcccaccagctgaaggcg	9	6	11	15	2	2	1	2	1	0	0	2	1	2	1	4	2	3	2	4	2	2	1	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.832C>T	p.His278Tyr	p.H278Y	ENST00000432680	3/5	212	187	25	137	136	1	strelka-varscan-mutect	MAMLD1,missense_variant,p.His303Tyr,ENST00000370401,;MAMLD1,missense_variant,p.His303Tyr,ENST00000262858,NM_005491.4;MAMLD1,missense_variant,p.His278Tyr,ENST00000426613,NM_001177466.2;MAMLD1,missense_variant,p.His278Tyr,ENST00000432680,NM_001177465.2;MAMLD1,downstream_gene_variant,,ENST00000358892,;MAMLD1,downstream_gene_variant,,ENST00000468306,;	T	ENST00000432680	Transcript	missense_variant	1007/3224	832/2997	278/998	H/Y	Cac/Tac		1		1	MAMLD1	HGNC	HGNC:2568	protein_coding	YES	CCDS55526.1	ENSP00000414517	Q13495		UPI00017A6EBC	NM_001177465.2	deleterious(0)		3/5		hmmpanther:PTHR15275,hmmpanther:PTHR15275:SF0																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	21	150470480	150470480	C	T	1	0	0	0	0	1	0	0	0	9129	826	29	3		3	MAMLD1	23	150470480	Missense_Mutation	SNP	C	C3L-00913_TP	4646241	150470480	5570415	268	7504											
GABRA3	0	.	GRCh38	chrX	152255948	152255948	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatggggccatcaaatttCagtctttcatcatgccatgt	9	15	7	10	0	6	0	5	0	1	0	6	0	6	0	2	2	1	0	2	2	1	3	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.381G>A	p.=	p.L127L	ENST00000370314	5/10	365	335	30	218	217	1	strelka-varscan-mutect	GABRA3,synonymous_variant,p.=,ENST00000370314,NM_000808.3;GABRA3,synonymous_variant,p.=,ENST00000535043,;GABRA3,non_coding_transcript_exon_variant,,ENST00000417858,;	T	ENST00000370314	Transcript	synonymous_variant	620/3712	381/1479	127/492	L	ctG/ctA		1		-1	GABRA3	HGNC	HGNC:4077	protein_coding	YES	CCDS14706.1	ENSP00000359337	P34903		UPI000002D730	NM_000808.3			5/10		hmmpanther:PTHR18945:SF216,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR00252																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	21	152255948	152255948	C	T	1	0	0	0	0	0	0	0	1	6033	813	29	3		3	GABRA3	23	152255948	Silent	SNP	C	C3L-00913_TP	1785468	152255948	3784947	269	7505											
L1CAM	0	.	GRCh38	chrX	153864885	153864885	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccctctttggtggtggcCtgaagctggaagcggtaccg	5	9	17	10	2	1	1	0	1	1	0	1	2	1	2	3	6	3	2	3	6	3	2	novel		C3L-00913_TP	C3L-00913_NB	C	C																c.2982G>A	p.=	p.Q994Q	ENST00000370060	23/29	252	151	101	134	134	0	strelka-varscan-mutect	L1CAM,synonymous_variant,p.=,ENST00000370060,NM_001278116.1,NM_000425.4;L1CAM,synonymous_variant,p.=,ENST00000361981,NM_001143963.2;L1CAM,synonymous_variant,p.=,ENST00000370055,;L1CAM,synonymous_variant,p.=,ENST00000361699,NM_024003.3;L1CAM,upstream_gene_variant,,ENST00000370058,;L1CAM,downstream_gene_variant,,ENST00000455590,;L1CAM,upstream_gene_variant,,ENST00000491983,;L1CAM,downstream_gene_variant,,ENST00000474853,;L1CAM,downstream_gene_variant,,ENST00000496122,;L1CAM,downstream_gene_variant,,ENST00000484652,;	T	ENST00000370060	Transcript	synonymous_variant	3172/5113	2982/3774	994/1257	Q	caG/caA		1		-1	L1CAM	HGNC	HGNC:6470	protein_coding	YES	CCDS14733.1	ENSP00000359077	P32004		UPI0000126E89	NM_001278116.1,NM_000425.4			23/29		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF593,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	21	153864885	153864885	C	T	1	0	0	0	0	0	0	0	1	8489	680	24	3		3	L1CAM	23	153864885	Silent	SNP	C	C3L-00913_TP	1608937	153864885	2176010	270	7506											
HCFC1	0	.	GRCh38	chrX	153952820	153952820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgctcagatccacggCggccgggagctcaggggtct	5	8	16	12	3	3	1	2	0	1	1	4	2	4	2	2	5	3	3	2	5	0	0	rs782151196		C3L-00913_TP	C3L-00913_NB	C	C																c.4636G>T	p.Ala1546Ser	p.A1546S	ENST00000310441	19/26	73	63	10	41	41	0	strelka-varscan-mutect	HCFC1,missense_variant,p.Ala1546Ser,ENST00000310441,NM_005334.2;HCFC1,missense_variant,p.Ala1590Ser,ENST00000369984,;HCFC1,missense_variant,p.Ala121Ser,ENST00000444191,;	A	ENST00000310441	Transcript	missense_variant	5603/8869	4636/6108	1546/2035	A/S	Gcc/Tcc	rs782151196	1		-1	HCFC1	HGNC	HGNC:4839	protein_coding	YES	CCDS44020.1	ENSP00000309555	P51610		UPI0000142F1F	NM_005334.2	tolerated_low_confidence(0.23)		19/26																			MODERATE	1	SNV	1			1										PASS		rs782151196	.												A	3	1	21	153952820	153952820	C	A	1	0	0	0	0	1	0	0	0	6879	768	27	1		1	HCFC1	23	153952820	Missense_Mutation	SNP	C	C3L-00913_TP	87935	153952820	2088075	271	7507											
FLNA	0	.	GRCh38	chrX	154366345	154366345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtaggtggtcttgttggcGatgttgccactgggctccag	6	12	15	8	1	1	0	0	0	1	0	2	1	2	0	2	4	1	4	2	4	2	4	rs200048692		C3L-00913_TP	C3L-00913_NB	G	G																c.1191C>T	p.=	p.I397I	ENST00000369850	8/48	383	342	41	205	205	0	strelka-varscan-mutect	FLNA,synonymous_variant,p.=,ENST00000422373,NM_001456.3;FLNA,synonymous_variant,p.=,ENST00000369850,NM_001110556.1;FLNA,synonymous_variant,p.=,ENST00000360319,;FLNA,synonymous_variant,p.=,ENST00000369856,;FLNA,synonymous_variant,p.=,ENST00000344736,;FLNA,synonymous_variant,p.=,ENST00000610817,;FLNA,synonymous_variant,p.=,ENST00000420627,;FLNA,upstream_gene_variant,,ENST00000465144,;	A	ENST00000369850	Transcript	synonymous_variant	1428/8382	1191/7944	397/2647	I	atC/atT	rs200048692,COSM4684939,COSM4684940	1		-1	FLNA	HGNC	HGNC:3754	protein_coding	YES	CCDS48194.1	ENSP00000358866	P21333		UPI000013C596	NM_001110556.1			8/48		PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF173,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296										benign	0,1,1						LOW	1	SNV	1		1,1,1	1										PASS		rs200048692	.												A	2	1	21	154366345	154366345	G	A	1	0	0	0	0	0	0	0	1	5789	1048	37	1		1	FLNA	23	154366345	Silent	SNP	G	C3L-00913_TP	413525	154366345	1674550	272	7508											
PLXNA3	0	.	GRCh38	chrX	154466041	154466041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgggtggctggcgtgcGttgcaactccattccggccg	3	9	15	14	5	0	0	0	0	0	0	2	0	2	0	4	4	4	3	4	4	1	2	rs782688882		C3L-00913_TP	C3L-00913_NB	G	G																c.2639G>T	p.Arg880Leu	p.R880L	ENST00000369682	14/33	96	55	41	74	74	0	strelka-varscan-mutect	PLXNA3,missense_variant,p.Arg880Leu,ENST00000369682,NM_017514.4;PLXNA3,upstream_gene_variant,,ENST00000493546,;PLXNA3,downstream_gene_variant,,ENST00000495040,;PLXNA3,upstream_gene_variant,,ENST00000467463,;PLXNA3,upstream_gene_variant,,ENST00000480645,;PLXNA3,upstream_gene_variant,,ENST00000497802,;PLXNA3,upstream_gene_variant,,ENST00000491066,;PLXNA3,upstream_gene_variant,,ENST00000478236,;PLXNA3,downstream_gene_variant,,ENST00000482598,;	T	ENST00000369682	Transcript	missense_variant	2814/10885	2639/5616	880/1871	R/L	cGt/cTt	rs782688882	1		1	PLXNA3	HGNC	HGNC:9101	protein_coding	YES	CCDS14752.1	ENSP00000358696	P51805		UPI0002AB801F	NM_017514.4	tolerated(0.34)		14/33		hmmpanther:PTHR22625:SF32,hmmpanther:PTHR22625,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		rs782688882	.												T	3	4	21	154466041	154466041	G	T	1	0	0	0	0	1	0	0	0	12227	1145	40	1		1	PLXNA3	23	154466041	Missense_Mutation	SNP	G	C3L-00913_TP	99696	154466041	1574854	273	7509											
ATAD3B	0	.	GRCh38	chr1	1495785	1495785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcttgtggtggcggtcggCcgttctgccccccagggcac	2	10	15	14	3	2	0	0	0	2	0	3	0	2	0	4	5	1	2	4	5	0	2	rs9792879		C3L-00973_TP	C3L-00973_NB	C	C																c.1915C>T	p.Pro639Ser	p.P639S	ENST00000308647	16/16	47	43	4	53	53	0	varscan-mutect	ATAD3B,missense_variant,p.Pro639Ser,ENST00000308647,NM_031921.4;ATAD3B,non_coding_transcript_exon_variant,,ENST00000472194,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000474481,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000485748,;	T	ENST00000308647	Transcript	missense_variant	2031/2448	1915/1947	639/648	P/S	Ccg/Tcg	rs9792879	1		1	ATAD3B	HGNC	HGNC:24007	protein_coding	YES	CCDS30.1	ENSP00000311766	Q5T9A4		UPI000013E044	NM_031921.4	tolerated_low_confidence(0.34)		16/16																			MODERATE	1	SNV	1			1										PASS		rs9792879	.												T	3	4	22	1495785	1495785	C	T	1	0	0	0	0	1	0	0	0	1222	739	26	3		3	ATAD3B	1	1495785	Missense_Mutation	SNP	C	C3L-00973_TP		1495785	247460637	1	7510											
NBPF10	0	.	GRCh38	chr1	146074374	146074374	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagataacctgaaggagtTgaataacatctatccagtga	16	10	8	7	0	2	4	1	3	1	1	3	5	3	5	2	1	2	1	2	1	6	4	novel		C3L-00973_TP	C3L-00973_NB	T	T																c.9975A>G	p.=	p.S3325S	ENST00000583866	80/90	58	38	20	54	54	0	varscan-mutect	NBPF10,synonymous_variant,p.=,ENST00000583866,NM_001039703.5,NM_001302371.1;NBPF10,synonymous_variant,p.=,ENST00000617010,;NBPF10,intron_variant,,ENST00000610925,;NBPF10,intron_variant,,ENST00000622244,;NBPF10,intron_variant,,ENST00000613557,;NBPF10,intron_variant,,ENST00000616399,;NBPF10,intron_variant,,ENST00000613224,;	C	ENST00000583866	Transcript	synonymous_variant	10010/13042	9975/11388	3325/3795	S	tcA/tcG		1		-1	NBPF10	HGNC	HGNC:31992	protein_coding	YES	CCDS76206.1	ENSP00000463957		A0A075B762	UPI00051EF319	NM_001039703.5,NM_001302371.1			80/90		Pfam_domain:PF06758,PROSITE_profiles:PS51316,SMART_domains:SM01148																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	22	146074374	146074374	T	C	1	0	0	0	0	0	0	0	1	10204	1799	63	5		5	NBPF10	1	146074374	Silent	SNP	T	C3L-00973_TP	144578589	146074374	102882048	2	7511											
PGBD2	0	.	GRCh38	chr1	248917258	248917258	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagatttgaactaatctTctcatacttacattttgcag	12	15	6	8	0	2	2	1	1	2	1	3	3	2	3	0	1	4	1	0	1	4	7	novel		C3L-00973_TP	C3L-00973_NB	T	T																c.674T>G	p.Phe225Cys	p.F225C	ENST00000329291	3/3	436	368	68	322	322	0	strelka-varscan-mutect	PGBD2,missense_variant,p.Phe225Cys,ENST00000329291,NM_170725.2;PGBD2,intron_variant,,ENST00000355360,NM_001017434.1;RNU6-1205P,upstream_gene_variant,,ENST00000363625,;PGBD2,intron_variant,,ENST00000462488,;	G	ENST00000329291	Transcript	missense_variant	821/2136	674/1779	225/592	F/C	tTc/tGc		1		1	PGBD2	HGNC	HGNC:19399	protein_coding	YES	CCDS31128.1	ENSP00000331643	Q6P3X8		UPI000016196D	NM_170725.2	deleterious(0)		3/3		Pfam_domain:PF13843,hmmpanther:PTHR28576,hmmpanther:PTHR28576:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	22	248917258	248917258	T	G	1	0	0	0	0	1	0	0	0	11871	1783	62	5		5	PGBD2	1	248917258	Missense_Mutation	SNP	T	C3L-00973_TP	102842884	248917258	39164	3	7512											
WNT7A	0	.	GRCh38	chr3	13819261	13819261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgggccgcttgttgcGgctggcacgcacaggctcca	6	7	16	12	3	0	0	0	0	0	0	1	1	1	0	2	5	1	6	2	5	1	2	novel		C3L-00973_TP	C3L-00973_NB	G	G																c.733C>T	p.Arg245Cys	p.R245C	ENST00000285018	4/4	183	168	15	179	179	0	strelka-varscan-mutect	WNT7A,missense_variant,p.Arg245Cys,ENST00000285018,NM_004625.3;	A	ENST00000285018	Transcript	missense_variant	1038/4041	733/1050	245/349	R/C	Cgc/Tgc		1		-1	WNT7A	HGNC	HGNC:12786	protein_coding	YES	CCDS2616.1	ENSP00000285018	O00755		UPI0000033777	NM_004625.3	deleterious(0)		4/4		Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF78,SMART_domains:SM00097																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	22	13819261	13819261	G	A	1	0	0	0	0	1	0	0	0	17950	1116	39	1		1	WNT7A	3	13819261	Missense_Mutation	SNP	G	C3L-00973_TP		13819261	184476298	4	7513											
XRN1	0	.	GRCh38	chr3	142422697	142422697	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaacaagaaaccccatCaaaatccaatcatctattat	18	10	1	12	0	3	1	2	0	1	1	4	1	4	1	4	0	3	0	4	0	9	3			C3L-00973_TP	C3L-00973_NB	C	C																c.852G>T	p.Leu284Phe	p.L284F	ENST00000264951	8/42	259	223	36	205	204	1	strelka-mutect	XRN1,missense_variant,p.Leu284Phe,ENST00000264951,NM_019001.4;XRN1,missense_variant,p.Leu284Phe,ENST00000392981,NM_001282857.1;XRN1,missense_variant,p.Leu284Phe,ENST00000463916,NM_001282859.1;XRN1,missense_variant,p.Leu145Phe,ENST00000477237,;RNU1-100P,upstream_gene_variant,,ENST00000365255,;XRN1,3_prime_UTR_variant,,ENST00000486211,;XRN1,non_coding_transcript_exon_variant,,ENST00000472697,;XRN1,downstream_gene_variant,,ENST00000470537,;	A	ENST00000264951	Transcript	missense_variant	970/10143	852/5121	284/1706	L/F	ttG/ttT	COSM3588255,COSM3588256	1		-1	XRN1	HGNC	HGNC:30654	protein_coding	YES	CCDS3123.1	ENSP00000264951	Q8IZH2		UPI0000074113	NM_019001.4	deleterious(0.03)		8/42		hmmpanther:PTHR12341:SF7,hmmpanther:PTHR12341											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1455187290	.												A	3	1	22	142422697	142422697	C	A	1	0	0	0	0	1	0	0	0	18017	825	29	2		2	XRN1	3	142422697	Missense_Mutation	SNP	C	C3L-00973_TP	128603436	142422697	55872862	5	7514											
ATP13A3	0	.	GRCh38	chr3	194441456	194441456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacattttcttctggtgaaAgaaatctaagcagaagacac	16	10	7	8	0	3	4	0	1	3	3	3	4	3	4	0	1	1	1	0	1	4	4	novel		C3L-00973_TP	C3L-00973_NB	A	A																c.1565T>C	p.Leu522Pro	p.L522P	ENST00000439040	16/33	131	112	19	93	93	0	strelka-varscan-mutect	ATP13A3,missense_variant,p.Leu522Pro,ENST00000439040,;ATP13A3,missense_variant,p.Leu522Pro,ENST00000256031,NM_024524.3;ATP13A3,missense_variant,p.Leu245Pro,ENST00000619199,;	G	ENST00000439040	Transcript	missense_variant	2357/7720	1565/3681	522/1226	L/P	cTt/cCt		1		-1	ATP13A3	HGNC	HGNC:24113	protein_coding	YES	CCDS43187.1	ENSP00000416508	Q9H7F0		UPI000049DFC3		tolerated(0.21)		16/33		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF249,TIGRFAM_domain:TIGR01657,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01494,Superfamily_domains:SSF81660																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	22	194441456	194441456	A	G	1	0	0	0	0	1	0	0	0	1277	86	3	5		5	ATP13A3	3	194441456	Missense_Mutation	SNP	A	C3L-00973_TP	52018759	194441456	3854103	6	7515											
USP17L18	0	.	GRCh38	chr4	9248880	9248880	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgggggctgggctccagaAtatgggaaatacctgctacg	9	8	16	8	1	0	1	0	0	0	1	1	2	1	2	2	5	3	3	2	5	5	3	rs778593063		C3L-00973_TP	C3L-00973_NB	A	A																c.251A>T	p.Asn84Ile	p.N84I	ENST00000504209	1/1	246	233	13	330	324	6	varscan-mutect	USP17L18,missense_variant,p.Asn84Ile,ENST00000619296,;USP17L18,missense_variant,p.Asn84Ile,ENST00000504209,NM_001256859.1;USP17L17,downstream_gene_variant,,ENST00000614762,;USP17L19,upstream_gene_variant,,ENST00000615989,;USP17L17,downstream_gene_variant,,ENST00000511568,NM_001256857.1;USP17L19,upstream_gene_variant,,ENST00000515566,NM_001256860.1;	T	ENST00000504209	Transcript	missense_variant	251/1593	251/1593	84/530	N/I	aAt/aTt	rs778593063	1		1	USP17L18	HGNC	HGNC:44446	protein_coding	YES	CCDS59459.1	ENSP00000423503	D6R9N7		UPI0000185F09	NM_001256859.1	deleterious(0)		1/1		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF511,PROSITE_patterns:PS00972,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	MODERATE	1	SNV				1										PASS		rs778593063	.												T	3	4	22	9248880	9248880	A	T	1	0	0	0	0	1	0	0	0	17585	101	4	4		4	USP17L18	4	9248880	Missense_Mutation	SNP	A	C3L-00973_TP		9248880	180965675	7	7516											
PDHA2	0	.	GRCh38	chr4	95840359	95840359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatgatgctgactgttcGccgcatggaattgaaggcag	10	9	14	8	2	0	3	0	3	0	0	1	5	0	5	1	3	1	4	1	3	2	2	novel		C3L-00973_TP	C3L-00973_NB	G	G																c.209G>A	p.Arg70His	p.R70H	ENST00000295266	1/1	211	188	23	183	183	0	strelka-varscan-mutect	PDHA2,missense_variant,p.Arg70His,ENST00000295266,NM_005390.4;	A	ENST00000295266	Transcript	missense_variant	341/1456	209/1167	70/388	R/H	cGc/cAc		1		1	PDHA2	HGNC	HGNC:8807	protein_coding	YES	CCDS3644.1	ENSP00000295266	P29803		UPI0000130C31	NM_005390.4	deleterious(0)		1/1		hmmpanther:PTHR11516:SF27,hmmpanther:PTHR11516,Pfam_domain:PF00676,TIGRFAM_domain:TIGR03182,Gene3D:3.40.50.970,Superfamily_domains:SSF52518																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	22	95840359	95840359	G	A	1	0	0	0	0	1	0	0	0	11753	1087	38	1		1	PDHA2	4	95840359	Missense_Mutation	SNP	G	C3L-00973_TP	86591479	95840359	94374196	8	7517											
BBS7	0	.	GRCh38	chr4	121828221	121828221	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcctcttctagaatacagtGatattctggtatcagaaagt	12	14	8	7	0	4	3	1	1	3	2	4	3	4	3	1	1	2	1	1	1	6	6	novel		C3L-00973_TP	C3L-00973_NB	G	G																c.1939C>G	p.His647Asp	p.H647D	ENST00000264499	18/19	336	304	32	241	241	0	strelka-varscan-mutect	BBS7,missense_variant,p.His647Asp,ENST00000264499,NM_176824.2;BBS7,missense_variant,p.His647Asp,ENST00000506636,NM_018190.3;BBS7,missense_variant,p.His70Asp,ENST00000507814,;CCNA2,upstream_gene_variant,,ENST00000274026,;CCNA2,upstream_gene_variant,,ENST00000618014,NM_001237.3;	C	ENST00000264499	Transcript	missense_variant	2123/3752	1939/2148	647/715	H/D	Cac/Gac		1		-1	BBS7	HGNC	HGNC:18758	protein_coding	YES	CCDS3724.1	ENSP00000264499	Q8IWZ6		UPI00001684D7	NM_176824.2	deleterious(0.01)		18/19		hmmpanther:PTHR16074,hmmpanther:PTHR16074:SF4,PIRSF_domain:PIRSF011091																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	22	121828221	121828221	G	C	1	0	0	0	0	1	0	0	0	1488	1290	45	4		4	BBS7	4	121828221	Missense_Mutation	SNP	G	C3L-00973_TP	25987862	121828221	68386334	9	7518											
CCDC110	0	.	GRCh38	chr4	185462647	185462661	+	In_Frame_Del	DEL	CTGACATTCTGCAAA	CTGACATTCTGCAAA	-																															atcaaaagaaacataccatgCtgacattctgcaaagtctgc																								novel		C3L-00973_TP	C3L-00973_NB	CTGACATTCTGCAAA	CTGACATTCTGCAAA																c.219_233delTTTGCAGAATGTCAG	p.Leu74_Ser78del	p.L74_S78del	ENST00000307588	4/7	222	206	16	178	178	0	sindel-varindel-pindel	CCDC110,inframe_deletion,p.Leu74_Ser78del,ENST00000307588,NM_152775.3;CCDC110,inframe_deletion,p.Leu74_Ser78del,ENST00000393540,NM_001145411.1;CCDC110,inframe_deletion,p.Leu74_Ser78del,ENST00000510617,;CCDC110,inframe_deletion,p.Leu74_Ser78del,ENST00000506876,;CCDC110,inframe_deletion,p.Leu4_Ser8del,ENST00000507501,;CCDC110,inframe_deletion,p.Leu4_Ser8del,ENST00000506962,;CCDC110,upstream_gene_variant,,ENST00000508538,;CCDC110,inframe_deletion,p.Phe55_Gln59del,ENST00000510481,;CCDC110,3_prime_UTR_variant,,ENST00000504020,;	-	ENST00000307588	Transcript	inframe_deletion	295-309/2898	219-233/2502	73-78/833	TLQNVS/T	acTTTGCAGAATGTCAGc/acc		1		-1	CCDC110	HGNC	HGNC:28504	protein_coding	YES	CCDS3843.1	ENSP00000306776	Q8TBZ0		UPI0000070BFC	NM_152775.3			4/7		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF32																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	22	185462647	185462647	CTGACATTCTGCAAA	-	1	0	1	0	1	0	0	0	0	2441	811	28	0		0	CCDC110	4	185462647	In_Frame_Del	DEL	CTGACATTCTGCAAA	C3L-00973_TP	63634426	185462647	4751908	10	7519											
HIST1H2BK	0	.	GRCh38	chr6	27146790	27146790	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgggagcggacttcgctggTtccggcatgttgaaggcgaa	7	8	17	9	5	0	1	0	1	0	0	2	4	1	3	1	5	1	4	1	5	2	3	rs764224999		C3L-00973_TP	C3L-00973_NB	T	T																c.9A>G	p.=	p.E3E	ENST00000356950	1/1	126	119	7	160	159	1	varscan-mutect	HIST1H2BK,synonymous_variant,p.=,ENST00000356950,NM_080593.2;HIST1H2AH,upstream_gene_variant,,ENST00000377459,NM_080596.2;MIR3143,upstream_gene_variant,,ENST00000584253,;	C	ENST00000356950	Transcript	synonymous_variant	9/381	9/381	3/126	E	gaA/gaG	rs764224999,COSM3722042,COSM3722043	1		-1	HIST1H2BK	HGNC	HGNC:13954	protein_coding	YES	CCDS4621.1	ENSP00000349430	O60814	A0A024RCL8	UPI0000073CF8	NM_080593.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23428											0,1,1						LOW	1	SNV			0,1,1	1										PASS		rs764224999	.												C	2	2	22	27146790	27146790	T	C	1	0	0	0	0	0	0	0	1	7038	1722	60	5		5	HIST1H2BK	6	27146790	Silent	SNP	T	C3L-00973_TP		27146790	143659189	11	7520											
C6orf163	0	.	GRCh38	chr6	87356344	87356344	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatgtatcaaaacatggAtgacgaaatgaagagagagc	19	6	12	4	1	1	5	1	2	0	3	1	9	1	6	0	1	2	1	0	1	5	1	novel		C3L-00973_TP	C3L-00973_NB	A	A																c.395A>T	p.Asp132Val	p.D132V	ENST00000388923	4/5	313	283	30	214	213	1	strelka-varscan-mutect	C6orf163,missense_variant,p.Asp2Val,ENST00000608326,;C6orf163,missense_variant,p.Asp132Val,ENST00000388923,NM_001010868.2;SMIM8,intron_variant,,ENST00000369572,;RP1-102H19.7,upstream_gene_variant,,ENST00000623904,;C6orf163,upstream_gene_variant,,ENST00000608891,;C6orf163,non_coding_transcript_exon_variant,,ENST00000369574,;SMIM8,intron_variant,,ENST00000448282,;	T	ENST00000388923	Transcript	missense_variant	646/1308	395/990	132/329	D/V	gAt/gTt		1		1	C6orf163	HGNC	HGNC:21403	protein_coding	YES	CCDS55042.1	ENSP00000373575	Q5TEZ5		UPI0000DBEE6F	NM_001010868.2	deleterious(0.04)		4/5		hmmpanther:PTHR34645																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	22	87356344	87356344	A	T	1	0	0	0	0	1	0	0	0	2121	333	12	4		4	C6orf163	6	87356344	Missense_Mutation	SNP	A	C3L-00973_TP	60209554	87356344	83449635	12	7521											
MACC1	0	.	GRCh38	chr7	20159595	20159595	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaagcatgtgtggcggatCaaggaaagcccttagagaca	13	8	13	7	1	1	1	1	0	0	1	1	4	1	3	1	3	2	2	1	3	4	2	novel		C3L-00973_TP	C3L-00973_NB	C	C																c.766G>T	p.Asp256Tyr	p.D256Y	ENST00000400331	5/7	259	233	26	249	248	1	strelka-varscan-mutect	MACC1,missense_variant,p.Asp256Tyr,ENST00000400331,NM_182762.3;MACC1,missense_variant,p.Asp256Tyr,ENST00000332878,;MACC1,missense_variant,p.Asp256Tyr,ENST00000589011,;MACC1,downstream_gene_variant,,ENST00000471019,;	A	ENST00000400331	Transcript	missense_variant	1075/9159	766/2559	256/852	D/Y	Gat/Tat		1		-1	MACC1	HGNC	HGNC:30215	protein_coding	YES	CCDS5369.1	ENSP00000383185	Q6ZN28		UPI00001B2F47	NM_182762.3	deleterious(0.02)		5/7		Pfam_domain:PF00791,hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1																	MODERATE	1	SNV	2			1										PASS		rs752730820	.												A	3	1	22	20159595	20159595	C	A	1	0	0	0	0	1	0	0	0	9059	826	29	2		2	MACC1	7	20159595	Missense_Mutation	SNP	C	C3L-00973_TP		20159595	139186378	13	7522											
SHFM1	0	.	GRCh38	chr7	96486236	96486236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaactctgttgtcgctctgGagttgggcatctccaagttt	6	15	10	10	1	3	0	0	0	3	0	5	1	3	1	1	2	1	5	1	2	2	4	novel		C3L-00973_TP	C3L-00973_NB	G	G																c.194C>A	p.Ser65Tyr	p.S65Y	ENST00000615352	2/3	383	333	50	286	286	0	strelka-varscan-mutect	SHFM1,missense_variant,p.Ser65Tyr,ENST00000356686,NM_001201450.1;SHFM1,missense_variant,p.Ser65Tyr,ENST00000615352,NM_001201451.1;SHFM1,non_coding_transcript_exon_variant,,ENST00000493858,;SHFM1,non_coding_transcript_exon_variant,,ENST00000611360,;SHFM1,3_prime_UTR_variant,,ENST00000466986,;SHFM1,downstream_gene_variant,,ENST00000613919,;SHFM1,downstream_gene_variant,,ENST00000617133,;SHFM1,downstream_gene_variant,,ENST00000618105,;SHFM1,downstream_gene_variant,,ENST00000619259,;	T	ENST00000615352	Transcript	missense_variant	241/2637	194/357	65/118	S/Y	tCc/tAc		1		-1	SHFM1	HGNC	HGNC:10845	protein_coding	YES	CCDS75638.1	ENSP00000481021		B7ZVW6	UPI000189A9A3	NM_001201451.1	deleterious_low_confidence(0)		2/3																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	22	96486236	96486236	G	T	1	0	0	0	0	1	0	0	0	14538	1174	41	2		2	SHFM1	7	96486236	Missense_Mutation	SNP	G	C3L-00973_TP	76326641	96486236	62859737	14	7523											
PIK3CG	0	.	GRCh38	chr7	106868111	106868111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggcttggtgaccccgCgcatggcggaggtggccagc	4	6	18	13	4	0	1	0	1	0	0	0	2	0	2	4	6	1	2	4	6	0	1			C3L-00973_TP	C3L-00973_NB	C	C																c.550C>T	p.Arg184Cys	p.R184C	ENST00000359195	2/11	79	71	8	88	88	0	strelka-varscan-mutect	PIK3CG,missense_variant,p.Arg184Cys,ENST00000359195,NM_002649.3;PIK3CG,missense_variant,p.Arg184Cys,ENST00000496166,NM_001282426.1;PIK3CG,missense_variant,p.Arg184Cys,ENST00000440650,NM_001282427.1;PIK3CG,intron_variant,,ENST00000473541,;	T	ENST00000359195	Transcript	missense_variant	860/5377	550/3309	184/1102	R/C	Cgc/Tgc	COSM4992816	1		1	PIK3CG	HGNC	HGNC:8978	protein_coding	YES	CCDS5739.1	ENSP00000352121	P48736	A0A024R720	UPI00000746B8	NM_002649.3	deleterious(0)		2/11		hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,Gene3D:3.10.20.90,Superfamily_domains:SSF54236											1						MODERATE	1	SNV	1		1	1										PASS		rs1189118505	.												T	3	4	22	106868111	106868111	C	T	1	0	0	0	0	1	0	0	0	12011	768	27	1		1	PIK3CG	7	106868111	Missense_Mutation	SNP	C	C3L-00973_TP	10381875	106868111	52477862	15	7524											
BMP1	0	.	GRCh38	chr8	22177954	22177954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttacgctcggaacacattctCcaggtgggagacgggattgg	9	9	14	9	3	1	1	0	0	1	1	3	4	1	3	1	5	2	1	1	5	2	3	novel		C3L-00973_TP	C3L-00973_NB	C	C																c.833C>T	p.Ser278Phe	p.S278F	ENST00000306385	6/20	68	59	9	44	44	0	strelka-varscan-mutect	BMP1,missense_variant,p.Ser278Phe,ENST00000306385,NM_006129.4;BMP1,missense_variant,p.Ser278Phe,ENST00000306349,NM_001199.3;BMP1,3_prime_UTR_variant,,ENST00000354870,;BMP1,downstream_gene_variant,,ENST00000397814,;BMP1,downstream_gene_variant,,ENST00000523849,;BMP1,downstream_gene_variant,,ENST00000521521,;BMP1,missense_variant,p.Ser278Phe,ENST00000520970,;BMP1,missense_variant,p.Ser278Phe,ENST00000471755,;BMP1,missense_variant,p.Ser278Phe,ENST00000521385,;BMP1,3_prime_UTR_variant,,ENST00000520626,;BMP1,3_prime_UTR_variant,,ENST00000520982,;BMP1,3_prime_UTR_variant,,ENST00000518913,;BMP1,3_prime_UTR_variant,,ENST00000483364,;BMP1,downstream_gene_variant,,ENST00000518656,;BMP1,upstream_gene_variant,,ENST00000523457,;	T	ENST00000306385	Transcript	missense_variant	1503/4229	833/2961	278/986	S/F	tCc/tTc		1		1	BMP1	HGNC	HGNC:1067	protein_coding	YES	CCDS6026.1	ENSP00000305714	P13497		UPI0000049818	NM_006129.4	deleterious(0)		6/20		hmmpanther:PTHR10127:SF638,hmmpanther:PTHR10127,Pfam_domain:PF01400,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001199,Superfamily_domains:SSF55486,Prints_domain:PR00480																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	22	22177954	22177954	C	T	1	0	0	0	0	1	0	0	0	1611	869	30	3		3	BMP1	8	22177954	Missense_Mutation	SNP	C	C3L-00973_TP		22177954	122960682	16	7525											
PXDNL	0	.	GRCh38	chr8	51408882	51408882	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggagaccccgaggcacCgaagggtctctgagagcctg	9	6	14	12	2	2	2	1	1	1	2	3	6	2	2	4	3	1	1	4	3	1	1	rs570625073		C3L-00973_TP	C3L-00973_NB	C	C																c.2742G>A	p.=	p.S914S	ENST00000356297	17/23	84	75	9	96	96	0	strelka-varscan-mutect	PXDNL,synonymous_variant,p.=,ENST00000356297,NM_144651.4;PXDNL,synonymous_variant,p.=,ENST00000522933,;PXDNL,synonymous_variant,p.=,ENST00000522628,;	T	ENST00000356297	Transcript	synonymous_variant	2843/4805	2742/4392	914/1463	S	tcG/tcA	rs570625073,COSM4719570,COSM4719571	1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4			17/23		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs570625073	.												T	2	4	22	51408882	51408882	C	T	1	0	0	0	0	0	0	0	1	13002	639	23	1		1	PXDNL	8	51408882	Silent	SNP	C	C3L-00973_TP	29230928	51408882	93729754	17	7526											
KIAA1217	0	.	GRCh38	chr10	24543719	24543719	+	Frame_Shift_Del	DEL	G	G	-																															gaggaaaagatagaggaggaGgaagaggaggaaaatgggga																								novel		C3L-00973_TP	C3L-00973_NB	G	G																c.4450delG	p.Glu1484LysfsTer9	p.E1484Kfs*9	ENST00000376454	19/21	314	291	23	267	267	0	varindel-pindel	KIAA1217,frameshift_variant,p.Glu1167LysfsTer9,ENST00000376451,;KIAA1217,frameshift_variant,p.Glu1484LysfsTer9,ENST00000376454,NM_019590.4;KIAA1217,frameshift_variant,p.Glu367LysfsTer9,ENST00000635163,;KIAA1217,intron_variant,,ENST00000376462,NM_001098500.2;KIAA1217,intron_variant,,ENST00000376452,NM_001282767.1;KIAA1217,intron_variant,,ENST00000458595,NM_001282768.1;KIAA1217,intron_variant,,ENST00000430453,;KIAA1217,intron_variant,,ENST00000396445,;KIAA1217,intron_variant,,ENST00000307544,NM_001282769.1;KIAA1217,intron_variant,,ENST00000396446,NM_001282770.1;KIAA1217,downstream_gene_variant,,ENST00000492009,;	-	ENST00000376454	Transcript	frameshift_variant	4479/7381	4449/5832	1483/1943	E/X	gaG/ga		1		1	KIAA1217	HGNC	HGNC:25428	protein_coding	YES	CCDS31165.1	ENSP00000365637	Q5T5P2		UPI000013EC2A	NM_019590.4			19/21		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4,Low_complexity_(Seg):seg																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	22	24543719	24543719	G	-	1	0	1	0	1	0	0	0	0	8109	991	35	0		0	KIAA1217	10	24543719	Frame_Shift_Del	DEL	G	C3L-00973_TP		24543719	109253703	18	7527											
MRGPRX2	0	.	GRCh38	chr11	19055704	19055704	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaaagggcaggccgcagagGaggaacaccagcactgtgag	13	2	15	11	1	0	2	0	1	0	1	0	4	0	4	3	4	2	3	3	4	2	0	novel		C3L-00973_TP	C3L-00973_NB	G	G																c.699C>T	p.=	p.L233L	ENST00000329773	2/2	255	229	26	206	206	0	strelka-varscan-mutect	MRGPRX2,synonymous_variant,p.=,ENST00000329773,NM_001303615.1,NM_054030.3;	A	ENST00000329773	Transcript	synonymous_variant	787/2036	699/993	233/330	L	ctC/ctT		1		-1	MRGPRX2	HGNC	HGNC:17983	protein_coding	YES	CCDS7847.1	ENSP00000333800	Q96LB1		UPI0000038C81	NM_001303615.1,NM_054030.3			2/2		Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR02108,PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF35,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	22	19055704	19055704	G	A	1	0	0	0	0	0	0	0	1	9734	1161	41	3		3	MRGPRX2	11	19055704	Silent	SNP	G	C3L-00973_TP		19055704	116030918	19	7528											
RAG1	0	.	GRCh38	chr11	36573919	36573919	+	Frame_Shift_Del	DEL	C	C	-																															aacgtgaccatggagtggcaCccccacacaccatcctgtga																								rs760237407		C3L-00973_TP	C3L-00973_NB	C	C																c.619delC	p.His207ThrfsTer57	p.H207Tfs*57	ENST00000299440	2/2	273	236	37	247	247	0	sindel-varindel-pindel	RAG1,frameshift_variant,p.His207ThrfsTer57,ENST00000299440,NM_000448.2;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,frameshift_variant,p.His207ThrfsTer57,ENST00000534663,;	-	ENST00000299440	Transcript	frameshift_variant	727/6564	615/3132	205/1043	H/X	caC/ca	rs760237407,COSM4746985	1		1	RAG1	HGNC	HGNC:9831	protein_coding	YES	CCDS7902.1	ENSP00000299440	P15918		UPI000013E5A0	NM_000448.2			2/2		Pfam_domain:PF12560,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0											0,1						HIGH	1	deletion	1	4	0,1	1										PASS		.	.												-	7	5	22	36573919	36573919	C	-	1	0	1	0	1	0	0	0	0	13164	506	18	0		0	RAG1	11	36573919	Frame_Shift_Del	DEL	C	C3L-00973_TP	17518215	36573919	98512703	20	7529											
DSCAML1	0	.	GRCh38	chr11	117524890	117524890	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgctgtcctcggtccgCaagtcgctgatggtcagccc	4	9	13	15	4	1	1	1	1	0	0	5	1	3	1	4	2	2	3	4	2	1	0	novel		C3L-00973_TP	C3L-00973_NB	C	C																c.1032G>A	p.=	p.L344L	ENST00000321322	5/33	302	268	34	211	211	0	strelka-varscan-mutect	DSCAML1,synonymous_variant,p.=,ENST00000321322,NM_020693.3;DSCAML1,synonymous_variant,p.=,ENST00000527706,;	T	ENST00000321322	Transcript	synonymous_variant	1034/6899	1032/6342	344/2113	L	ttG/ttA		1		-1	DSCAML1	HGNC	HGNC:14656	protein_coding	YES	CCDS8384.1	ENSP00000315465	Q8TD84		UPI00000726E2	NM_020693.3			5/33		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	22	117524890	117524890	C	T	1	0	0	0	0	0	0	0	1	4590	709	25	3		3	DSCAML1	11	117524890	Silent	SNP	C	C3L-00973_TP	80950971	117524890	17561732	21	7530											
KRAS	0	.	GRCh38	chr12	25245350	25245350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		C3L-00973_TP	C3L-00973_NB	C	C																c.35G>A	p.Gly12Asp	p.G12D	ENST00000256078	2/6	512	374	138	268	268	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Asp,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Asp,ENST00000556131,;KRAS,missense_variant,p.Gly12Asp,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Asp,ENST00000557334,;	T	ENST00000256078	Transcript	missense_variant	99/1119	35/570	12/189	G/D	gGt/gAt	rs121913529,CM087372,COSM1135366,COSM1140133,COSM1140134,COSM12657,COSM49168,COSM520,COSM521,COSM522	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,0,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1,1,1	1										PASS		rs121913529	.												T	3	4	22	25245350	25245350	C	T	1	0	0	0	0	1	0	0	0	8318	507	18	3		3	KRAS	12	25245350	Missense_Mutation	SNP	C	C3L-00973_TP		25245350	108029959	22	7531											
MYF6	0	.	GRCh38	chr12	80708201	80708201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagaagatgcaggagctggGggtggaccccttcagctaca	10	6	16	9	0	1	2	1	0	0	2	1	5	1	4	2	5	4	3	2	5	2	2	novel		C3L-00973_TP	C3L-00973_NB	G	G																c.482G>A	p.Gly161Glu	p.G161E	ENST00000228641	1/3	112	106	6	123	123	0	varscan-mutect	MYF6,missense_variant,p.Gly161Glu,ENST00000228641,NM_002469.2;	A	ENST00000228641	Transcript	missense_variant	704/1465	482/729	161/242	G/E	gGg/gAg		1		1	MYF6	HGNC	HGNC:7566	protein_coding	YES	CCDS9019.1	ENSP00000228641	P23409		UPI0000001050	NM_002469.2	tolerated(0.34)		1/3		hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF4,Superfamily_domains:SSF47459																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	22	80708201	80708201	G	A	1	0	0	0	0	1	0	0	0	10028	1232	43	3		3	MYF6	12	80708201	Missense_Mutation	SNP	G	C3L-00973_TP	55462851	80708201	52567108	23	7532											
UBE3B	0	.	GRCh38	chr12	109483923	109483923	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactaaaagaagtgcactttGtattttcaagattgccagga	14	12	8	7	0	1	2	1	0	0	2	1	3	1	3	1	1	2	2	1	1	5	6	rs755365552		C3L-00973_TP	C3L-00973_NB	G	G																c.224G>C	p.Cys75Ser	p.C75S	ENST00000342494	4/28	177	160	17	133	133	0	strelka-varscan-mutect	UBE3B,missense_variant,p.Cys75Ser,ENST00000342494,NM_130466.3;UBE3B,missense_variant,p.Cys75Ser,ENST00000434735,NM_183415.2;UBE3B,missense_variant,p.Cys75Ser,ENST00000537063,;UBE3B,missense_variant,p.Cys75Ser,ENST00000539599,;UBE3B,missense_variant,p.Cys75Ser,ENST00000540230,;UBE3B,missense_variant,p.Cys75Ser,ENST00000340074,NM_001270449.1;UBE3B,missense_variant,p.Cys75Ser,ENST00000536398,NM_001270450.1,NM_001270451.1;UBE3B,missense_variant,p.Cys75Ser,ENST00000449510,;UBE3B,non_coding_transcript_exon_variant,,ENST00000539843,;	C	ENST00000342494	Transcript	missense_variant	819/5722	224/3207	75/1068	C/S	tGt/tCt	rs755365552	1		1	UBE3B	HGNC	HGNC:13478	protein_coding	YES	CCDS9129.1	ENSP00000340596	Q7Z3V4	A0A024RBI2	UPI000013DC3B	NM_130466.3	tolerated(0.76)		4/28		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF352																	MODERATE	1	SNV	1			1										PASS		rs755365552	.												C	3	2	22	109483923	109483923	G	C	1	0	0	0	0	1	0	0	0	17403	1377	48	4		4	UBE3B	12	109483923	Missense_Mutation	SNP	G	C3L-00973_TP	28775722	109483923	23791386	24	7533											
RB1	0	.	GRCh38	chr13	48453046	48453049	+	Frame_Shift_Del	DEL	TGAT	TGAT	-																															aaggaccgagaaggaccaacTgatcaccttgaatctgcttg																								novel		C3L-00973_TP	C3L-00973_NB	TGAT	TGAT																c.1749_1752delTGAT	p.Asp584ThrfsTer26	p.D584Tfs*26	ENST00000267163	18/27	309	282	27	254	254	0	sindel-varindel-pindel	RB1,frameshift_variant,p.Asp584ThrfsTer26,ENST00000267163,NM_000321.2;RB1,non_coding_transcript_exon_variant,,ENST00000480491,;	-	ENST00000267163	Transcript	frameshift_variant	1887-1890/4840	1749-1752/2787	583-584/928	TD/X	acTGAT/ac		1		1	RB1	HGNC	HGNC:9884	protein_coding	YES	CCDS31973.1	ENSP00000267163	P06400	A0A024RDV3	UPI0000001C79	NM_000321.2			18/27		hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF21																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	22	48453046	48453046	TGAT	-	1	0	1	0	1	0	0	0	0	13259	1567	55	0		0	RB1	13	48453046	Frame_Shift_Del	DEL	TGAT	C3L-00973_TP		48453046	65911282	25	7534											
NKX2-1	0	.	GRCh38	chr14	36517564	36517571	+	Frame_Shift_Del	DEL	GGCGCGGG	GGCGCGGG	-																															cttgtaggctggcggcgcccGgcgcgggggcacccgcctgg																								novel		C3L-00973_TP	C3L-00973_NB	GGCGCGGG	GGCGCGGG																c.913_920delCCCGCGCC	p.Pro305GlyfsTer131	p.P305Gfs*131	ENST00000354822	3/3	74	65	9	134	134	0	sindel-varindel-pindel	NKX2-1,frameshift_variant,p.Pro275GlyfsTer131,ENST00000518149,;NKX2-1,frameshift_variant,p.Pro275GlyfsTer131,ENST00000498187,NM_003317.3;NKX2-1,frameshift_variant,p.Pro305GlyfsTer131,ENST00000354822,NM_001079668.2;NKX2-1,frameshift_variant,p.Pro275GlyfsTer?,ENST00000522719,;SFTA3,upstream_gene_variant,,ENST00000518529,NM_001101341.1;NKX2-1,downstream_gene_variant,,ENST00000546983,;RP11-964E11.3,intron_variant,,ENST00000634305,;NKX2-1-AS1,upstream_gene_variant,,ENST00000521292,;RP11-896J10.3,intron_variant,,ENST00000521945,;SFTA3,upstream_gene_variant,,ENST00000518987,;SFTA3,upstream_gene_variant,,ENST00000521114,;SFTA3,upstream_gene_variant,,ENST00000418548,;SFTA3,upstream_gene_variant,,ENST00000518446,;SFTA3,upstream_gene_variant,,ENST00000518002,;SFTA3,upstream_gene_variant,,ENST00000524122,;	-	ENST00000354822	Transcript	frameshift_variant	1012-1019/2191	913-920/1206	305-307/401	PAP/X	CCCGCGCCg/g		1		-1	NKX2-1	HGNC	HGNC:11825	protein_coding	YES	CCDS41945.1	ENSP00000346879	P43699		UPI000007328C	NM_001079668.2			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF33																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	22	36517564	36517564	GGCGCGGG	-	1	0	1	0	1	0	0	0	0	10485	1116	39	0		0	NKX2-1	14	36517564	Frame_Shift_Del	DEL	GGCGCGGG	C3L-00973_TP		36517564	70526154	26	7535											
SMCR8	0	.	GRCh38	chr17	18316552	18316552	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgaagcagatccgcTcataccctcatcggaagttg	10	9	9	13	2	2	2	2	1	0	1	4	3	3	3	3	1	3	4	3	1	3	2	novel		C3L-00973_TP	C3L-00973_NB	T	T																c.763T>C	p.Ser255Pro	p.S255P	ENST00000406438	1/2	216	189	27	237	237	0	strelka-varscan-mutect	SMCR8,missense_variant,p.Ser255Pro,ENST00000406438,NM_144775.2;TOP3A,upstream_gene_variant,,ENST00000542570,NM_004618.3;TOP3A,upstream_gene_variant,,ENST00000321105,;TOP3A,upstream_gene_variant,,ENST00000580095,;TOP3A,upstream_gene_variant,,ENST00000582230,;TOP3A,upstream_gene_variant,,ENST00000584669,;TOP3A,upstream_gene_variant,,ENST00000584887,;TOP3A,upstream_gene_variant,,ENST00000584582,;TOP3A,upstream_gene_variant,,ENST00000582981,;TOP3A,upstream_gene_variant,,ENST00000472959,;TOP3A,upstream_gene_variant,,ENST00000461127,;TOP3A,upstream_gene_variant,,ENST00000583328,;TOP3A,upstream_gene_variant,,ENST00000585031,;TOP3A,upstream_gene_variant,,ENST00000580713,;RPL7AP65,downstream_gene_variant,,ENST00000418183,;RPL21P121,downstream_gene_variant,,ENST00000439258,;	C	ENST00000406438	Transcript	missense_variant	1243/8279	763/2814	255/937	S/P	Tca/Cca		1		1	SMCR8	HGNC	HGNC:17921	protein_coding	YES	CCDS11195.2	ENSP00000385025	Q8TEV9		UPI0000E0322D	NM_144775.2	deleterious(0.01)		1/2		hmmpanther:PTHR31334:SF1,hmmpanther:PTHR31334																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	22	18316552	18316552	T	C	1	0	0	0	0	1	0	0	0	15087	1551	54	5		5	SMCR8	17	18316552	Missense_Mutation	SNP	T	C3L-00973_TP		18316552	64940889	27	7536											
SIRPD	0	.	GRCh38	chr20	1534426	1534426	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttccttccctgtttggatTattttgacagcaagcctgaa	8	15	8	10	1	0	2	0	2	0	0	2	3	2	3	3	1	2	3	3	1	3	6	novel		C3L-00973_TP	C3L-00973_NB	T	T																c.593A>G	p.=	p.*198*	ENST00000381623	4/4	293	266	27	194	194	0	strelka-varscan-mutect	SIRPD,stop_retained_variant,p.=,ENST00000381623,NM_178460.2;SIRPD,stop_retained_variant,p.=,ENST00000381621,;SIRPD,stop_retained_variant,p.=,ENST00000429387,;RP4-576H24.2,intron_variant,,ENST00000453770,;	C	ENST00000381623	Transcript	stop_retained_variant	1783/1958	593/594	198/197	*	tAa/tGa		1		-1	SIRPD	HGNC	HGNC:16248	protein_coding	YES	CCDS13018.1	ENSP00000371036	Q9H106		UPI000013CBD7	NM_178460.2			4/4																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	22	1534426	1534426	T	C	1	0	0	0	0	0	0	0	1	14598	1761	61	5		5	SIRPD	20	1534426	Silent	SNP	T	C3L-00973_TP		1534426	62909741	28	7537											
NRK	0	.	GRCh38	chrX	105923148	105923148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttaaagtaggaaaaataTcaccccctgtatacttgaca	16	11	6	8	0	1	1	1	1	0	0	1	3	1	2	2	1	1	2	2	1	8	7	novel		C3L-00973_TP	C3L-00973_NB	T	T																c.2641T>C	p.Ser881Pro	p.S881P	ENST00000243300	18/29	97	61	36	71	71	0	strelka-varscan-mutect	NRK,missense_variant,p.Ser881Pro,ENST00000243300,NM_198465.3;NRK,3_prime_UTR_variant,,ENST00000428173,;	C	ENST00000243300	Transcript	missense_variant	2944/8062	2641/4749	881/1582	S/P	Tca/Cca		1		1	NRK	HGNC	HGNC:25391	protein_coding	YES	CCDS65305.1	ENSP00000434830	Q7Z2Y5		UPI0000418886	NM_198465.3	tolerated(0.05)		18/29																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	22	105923148	105923148	T	C	1	0	0	0	0	1	0	0	0	10713	1435	50	5		5	NRK	23	105923148	Missense_Mutation	SNP	T	C3L-00973_TP		105923148	50117747	29	7538											
MEGF6	0	.	GRCh38	chr1	3499159	3499159	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggcaggagggccccaTccagccaggggcacagtggc	8	3	16	14	0	0	0	0	0	0	0	1	1	1	1	4	6	2	3	4	6	0	0	novel		C3L-01330_TP	C3L-01330_NB	T	T																c.3073A>T	p.Met1025Leu	p.M1025L	ENST00000356575	24/37	327	307	20	256	256	0	strelka-varscan-mutect	MEGF6,missense_variant,p.Met1025Leu,ENST00000356575,NM_001409.3;MEGF6,intron_variant,,ENST00000294599,;MEGF6,upstream_gene_variant,,ENST00000491842,;MEGF6,missense_variant,p.Met1032Leu,ENST00000485002,;MEGF6,upstream_gene_variant,,ENST00000475790,;MEGF6,upstream_gene_variant,,ENST00000461795,;	A	ENST00000356575	Transcript	missense_variant	3300/5455	3073/4626	1025/1541	M/L	Atg/Ttg		1		-1	MEGF6	HGNC	HGNC:3232	protein_coding	YES	CCDS41237.1	ENSP00000348982	O75095		UPI0000DACACB	NM_001409.3	deleterious(0.05)		24/37		PROSITE_profiles:PS50026,hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF106,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,Gene3D:2.10.25.10,SMART_domains:SM00180,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	23	3499159	3499159	T	A	1	0	0	0	0	1	0	0	0	9402	1435	50	4		4	MEGF6	1	3499159	Missense_Mutation	SNP	T	C3L-01330_TP		3499159	245457263	1	7539											
TNFRSF9	0	.	GRCh38	chr1	7920924	7920924	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtactggtctcataaatgCtaaaaaaaaaattttaagat	18	14	5	4	0	1	1	1	0	1	1	2	1	1	1	0	1	2	2	0	1	9	6	novel		C3L-01330_TP	C3L-01330_NB	C	C																c.680-1G>T		p.X227_splice	ENST00000615230		145	137	8	123	123	0	varscan-mutect	TNFRSF9,splice_acceptor_variant,,ENST00000615230,NM_001561.5;TNFRSF9,splice_acceptor_variant,,ENST00000377507,;TNFRSF9,downstream_gene_variant,,ENST00000474475,;	A	ENST00000615230	Transcript	splice_acceptor_variant	-/5970	680/768	227/255				1		-1	TNFRSF9	HGNC	HGNC:11924	protein_coding	YES	CCDS92.1	ENSP00000478699	Q07011		UPI00001370F1	NM_001561.5				8/8																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	23	7920924	7920924	C	A	1	0	0	0	0	0	0	1	0	16774	811	28	2		2	TNFRSF9	1	7920924	Splice_Site	SNP	C	C3L-01330_TP	4421765	7920924	241035498	2	7540											
GRIK3	0	.	GRCh38	chr1	36872252	36872252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatgcggaattcccggcctCgcttcatctccttgagcaag	8	11	9	13	3	2	1	1	1	1	0	5	2	3	2	3	2	2	2	3	2	3	4	rs773388016		C3L-01330_TP	C3L-01330_NB	C	C																c.668G>A	p.Arg223Gln	p.R223Q	ENST00000373091	4/16	144	133	11	91	91	0	strelka-varscan-mutect	GRIK3,missense_variant,p.Arg223Gln,ENST00000373091,NM_000831.3;GRIK3,missense_variant,p.Arg223Gln,ENST00000373093,;	T	ENST00000373091	Transcript	missense_variant	685/9101	668/2760	223/919	R/Q	cGa/cAa	rs773388016	1		-1	GRIK3	HGNC	HGNC:4581	protein_coding	YES	CCDS416.1	ENSP00000362183	Q13003		UPI000013E311	NM_000831.3	tolerated(0.32)		4/16		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF174,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		rs773388016	.												T	3	4	23	36872252	36872252	C	T	1	0	0	0	0	1	0	0	0	6657	884	31	1		1	GRIK3	1	36872252	Missense_Mutation	SNP	C	C3L-01330_TP	28951328	36872252	212084170	3	7541											
JUN	0	.	GRCh38	chr1	58782841	58782842	+	Frame_Shift_Ins	INS	-	-	C																															ggactggattatcaggcgctINSccagctcgggcgacgccagc																								novel		C3L-01330_TP	C3L-01330_NB	-	-																c.229dupG	p.Glu77GlyfsTer30	p.E77Gfs*30	ENST00000371222	1/1	87	72	15	86	86	0	sindel-varindel-pindel	JUN,frameshift_variant,p.Glu77GlyfsTer30,ENST00000371222,NM_002228.3;LINC01135,upstream_gene_variant,,ENST00000419531,;	C	ENST00000371222	Transcript	frameshift_variant	1486-1487/3540	229-230/996	77/331	E/GX	gag/gGag		1		-1	JUN	HGNC	HGNC:6204	protein_coding	YES	CCDS610.1	ENSP00000360266	P05412		UPI000000D908	NM_002228.3			1/1		Pfam_domain:PF03957,hmmpanther:PTHR11462,hmmpanther:PTHR11462:SF8																	HIGH		insertion				1										PASS		.	.												C	7	5	23	58782841	58782841	-	C	1	0	1	1	0	0	0	0	0	7879	1551	54	0		0	JUN	1	58782841	Frame_Shift_Ins	INS	-	C3L-01330_TP	21910589	58782841	190173581	4	7542											
OR2T6	0	.	GRCh38	chr1	248388468	248388468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacacccttattaaaccCtctcatctacagtctgagga	11	11	4	15	0	4	1	2	1	3	0	5	2	4	2	3	1	2	0	3	1	4	3	rs867677850		C3L-01330_TP	C3L-01330_NB	C	C																c.860C>G	p.Pro287Arg	p.P287R	ENST00000355728	1/1	28	24	4	37	37	0	strelka-varscan	OR2T6,missense_variant,p.Pro287Arg,ENST00000355728,NM_001005471.1;	G	ENST00000355728	Transcript	missense_variant	860/927	860/927	287/308	P/R	cCt/cGt	rs867677850	1		1	OR2T6	HGNC	HGNC:15018	protein_coding	YES	CCDS31114.1	ENSP00000347965	Q8NHC8		UPI0000199147	NM_001005471.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	23	248388468	248388468	C	G	1	0	0	0	0	1	0	0	0	11106	681	24	4		4	OR2T6	1	248388468	Missense_Mutation	SNP	C	C3L-01330_TP	189605627	248388468	567954	5	7543											
TANC1	0	.	GRCh38	chr2	159229671	159229671	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctggcccgcgtagaagaGgagtgcaaacaactccagag	12	6	12	11	2	1	3	0	0	1	3	2	4	2	4	2	2	3	2	2	2	4	2	novel		C3L-01330_TP	C3L-01330_NB	G	G																c.4245G>A	p.=	p.E1415E	ENST00000263635	27/27	272	185	87	299	299	0	strelka-varscan	TANC1,synonymous_variant,p.=,ENST00000263635,NM_033394.2,NM_001145909.1;TANC1,intron_variant,,ENST00000454300,;TANC1,non_coding_transcript_exon_variant,,ENST00000496406,;TANC1,non_coding_transcript_exon_variant,,ENST00000470074,;	A	ENST00000263635	Transcript	synonymous_variant	4482/7470	4245/5586	1415/1861	E	gaG/gaA		1		1	TANC1	HGNC	HGNC:29364	protein_coding	YES	CCDS42766.1	ENSP00000263635	Q9C0D5		UPI0000421D80	NM_033394.2,NM_001145909.1			27/27		Gene3D:1.25.40.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF23,Superfamily_domains:SSF48452																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	23	159229671	159229671	G	A	1	0	0	0	0	0	0	0	1	15941	991	35	3		3	TANC1	2	159229671	Silent	SNP	G	C3L-01330_TP		159229671	82963858	6	7544											
CD302	0	.	GRCh38	chr2	159780116	159780116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaactaaatcctcatcatCatcttggtctgtccacttat	10	15	4	12	0	6	0	4	0	2	0	8	0	8	0	2	1	1	0	2	1	4	3	novel		C3L-01330_TP	C3L-01330_NB	C	C																c.5281G>A	p.Asp1761Asn	p.D1761N	ENST00000504764	37/39	110	94	16	148	148	0	strelka-varscan	LY75-CD302,missense_variant,p.Asp1761Asn,ENST00000504764,NM_001198759.1;LY75-CD302,missense_variant,p.Asp1705Asn,ENST00000505052,NM_001198760.1;CD302,missense_variant,p.Asp83Asn,ENST00000553424,NM_001198764.1;CD302,missense_variant,p.Asp120Asn,ENST00000259053,NM_014880.4;CD302,intron_variant,,ENST00000429078,NM_001198763.1;CD302,non_coding_transcript_exon_variant,,ENST00000480212,;	T	ENST00000504764	Transcript	missense_variant	5309/5650	5281/5622	1761/1873	D/N	Gat/Aat		1		-1	LY75-CD302	HGNC	HGNC:38828	protein_coding	YES	CCDS56141.1	ENSP00000423463			UPI00018817E3	NM_001198759.1	tolerated(0.35)		37/39		Low_complexity_(Seg):seg,PROSITE_profiles:PS50041,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	23	159780116	159780116	C	T	1	0	0	0	0	1	0	0	0	2707	826	29	3		3	CD302	2	159780116	Missense_Mutation	SNP	C	C3L-01330_TP	550445	159780116	82413413	7	7545											
CPS1	0	.	GRCh38	chr2	210608492	210608492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggtcaccaagattccccGctgggatcttgaccgttttc	7	12	9	13	2	2	2	1	1	1	1	4	3	3	3	4	2	0	2	4	2	1	4	rs766970243		C3L-01330_TP	C3L-01330_NB	G	G																c.2342G>A	p.Arg781His	p.R781H	ENST00000430249	20/39	267	222	45	272	272	0	strelka-varscan-mutect	CPS1,missense_variant,p.Arg775His,ENST00000233072,NM_001875.4;CPS1,missense_variant,p.Arg781His,ENST00000430249,NM_001122633.2;CPS1,missense_variant,p.Arg324His,ENST00000451903,NM_001122634.3;CPS1,downstream_gene_variant,,ENST00000467353,;	A	ENST00000430249	Transcript	missense_variant	2397/5698	2342/4521	781/1506	R/H	cGc/cAc	rs766970243,COSM4090801,COSM4090802	1		1	CPS1	HGNC	HGNC:2323	protein_coding	YES	CCDS46505.1	ENSP00000402608	P31327		UPI000166C19F	NM_001122633.2	deleterious(0)		20/39		hmmpanther:PTHR11405:SF38,hmmpanther:PTHR11405,TIGRFAM_domain:TIGR01369,Gene3D:3.30.470.20,Superfamily_domains:SSF56059											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs766970243	.												A	3	1	23	210608492	210608492	G	A	1	0	0	0	0	1	0	0	0	3619	1087	38	1		1	CPS1	2	210608492	Missense_Mutation	SNP	G	C3L-01330_TP	50828376	210608492	31585037	8	7546											
OBSL1	0	.	GRCh38	chr2	219552661	219552661	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgccttcgcgggcgctcAccgaccgcagctcggagagt	5	6	14	16	8	1	1	1	0	0	1	4	3	1	1	3	2	1	3	3	2	0	1	rs769360822		C3L-01330_TP	C3L-01330_NB	A	A																c.5183T>G	p.Val1728Gly	p.V1728G	ENST00000404537	18/21	195	156	39	155	154	1	strelka-varscan-mutect	OBSL1,missense_variant,p.Val1728Gly,ENST00000404537,NM_015311.2;OBSL1,missense_variant,p.Val1636Gly,ENST00000373876,;OBSL1,downstream_gene_variant,,ENST00000603926,NM_001173431.1;TMEM198,downstream_gene_variant,,ENST00000344458,NM_001303098.1;TMEM198,downstream_gene_variant,,ENST00000373883,NM_001005209.2;OBSL1,downstream_gene_variant,,ENST00000604031,;OBSL1,downstream_gene_variant,,ENST00000456147,;TMEM198,downstream_gene_variant,,ENST00000421791,;MIR3132,upstream_gene_variant,,ENST00000581997,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,non_coding_transcript_exon_variant,,ENST00000489804,;OBSL1,upstream_gene_variant,,ENST00000462534,;OBSL1,downstream_gene_variant,,ENST00000472388,;OBSL1,downstream_gene_variant,,ENST00000596474,;	C	ENST00000404537	Transcript	missense_variant	5240/5841	5183/5691	1728/1896	V/G	gTg/gGg	rs769360822	1		-1	OBSL1	HGNC	HGNC:29092	protein_coding	YES	CCDS46520.1	ENSP00000385636	O75147		UPI0000E07EA0	NM_015311.2	deleterious(0.02)		18/21		hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs769360822	.												C	3	2	23	219552661	219552661	A	C	1	0	0	0	0	1	0	0	0	10890	159	6	5		5	OBSL1	2	219552661	Missense_Mutation	SNP	A	C3L-01330_TP	8944169	219552661	22640868	9	7547											
CACNA2D2	0	.	GRCh38	chr3	50384214	50384214	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcctttgtagatgtccgTagggatctgtacagccgcgt	8	11	12	10	3	1	1	0	0	1	1	2	2	2	2	3	1	3	3	3	1	3	4	novel		C3L-01330_TP	C3L-01330_NB	T	T																c.634A>G	p.Thr212Ala	p.T212A	ENST00000479441	6/39	105	99	6	127	127	0	strelka-mutect	CACNA2D2,missense_variant,p.Thr212Ala,ENST00000266039,NM_001005505.2;CACNA2D2,missense_variant,p.Thr212Ala,ENST00000423994,;CACNA2D2,missense_variant,p.Thr212Ala,ENST00000429770,;CACNA2D2,missense_variant,p.Thr143Ala,ENST00000360963,NM_001291101.1;CACNA2D2,missense_variant,p.Thr212Ala,ENST00000424201,NM_006030.3;CACNA2D2,missense_variant,p.Thr212Ala,ENST00000479441,NM_001174051.2;	C	ENST00000479441	Transcript	missense_variant	634/3453	634/3453	212/1150	T/A	Acg/Gcg		1		-1	CACNA2D2	HGNC	HGNC:1400	protein_coding	YES	CCDS54588.1	ENSP00000418081	Q9NY47		UPI0000E5A6AF	NM_001174051.2	deleterious(0.01)		6/39		Pfam_domain:PF08399,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	23	50384214	50384214	T	C	1	0	0	0	0	1	0	0	0	2237	1638	57	5		5	CACNA2D2	3	50384214	Missense_Mutation	SNP	T	C3L-01330_TP		50384214	147911345	10	7548											
ALCAM	0	.	GRCh38	chr3	105545258	105545258	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacccaagtggagaagtgActagacagattggtgatgcc	14	8	12	7	0	0	5	0	2	0	3	0	6	0	5	2	2	2	0	2	2	5	3	novel		C3L-01330_TP	C3L-01330_NB	A	A																c.1027A>T	p.Thr343Ser	p.T343S	ENST00000306107	9/16	323	284	39	337	337	0	strelka-varscan-mutect	ALCAM,missense_variant,p.Thr343Ser,ENST00000306107,NM_001627.3,NM_001243281.1;ALCAM,missense_variant,p.Thr343Ser,ENST00000472644,NM_001243280.1;ALCAM,missense_variant,p.Thr104Ser,ENST00000465413,;ALCAM,missense_variant,p.Thr292Ser,ENST00000486979,;ALCAM,non_coding_transcript_exon_variant,,ENST00000481337,;ALCAM,non_coding_transcript_exon_variant,,ENST00000491388,;ALCAM,upstream_gene_variant,,ENST00000489178,;	T	ENST00000306107	Transcript	missense_variant	1527/4701	1027/1752	343/583	T/S	Act/Tct		1		1	ALCAM	HGNC	HGNC:400	protein_coding	YES	CCDS33810.1	ENSP00000305988	Q13740		UPI0000209ECA	NM_001627.3,NM_001243281.1	deleterious(0.04)		9/16		hmmpanther:PTHR11973,hmmpanther:PTHR11973:SF2,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	23	105545258	105545258	A	T	1	0	0	0	0	1	0	0	0	587	275	10	4		4	ALCAM	3	105545258	Missense_Mutation	SNP	A	C3L-01330_TP	55161044	105545258	92750301	11	7549											
BMP2K	0	.	GRCh38	chr4	78871009	78871009	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcaccaccaccaccaccacca	14	0	7	20	0	0	0	0	0	0	0	0	0	0	0	6	0	7	7	6	0	0	0	rs2114202		C3L-01330_TP	C3L-01330_NB	G	G																c.1458G>C	p.Gln486His	p.Q486H	ENST00000335016	11/16	329	312	17	314	311	3	varscan-mutect	BMP2K,missense_variant,p.Gln179His,ENST00000502613,;BMP2K,missense_variant,p.Gln486His,ENST00000335016,NM_198892.1;BMP2K,missense_variant,p.Gln486His,ENST00000502871,NM_017593.3;BMP2K,3_prime_UTR_variant,,ENST00000628286,;BMP2K,3_prime_UTR_variant,,ENST00000389010,;BMP2K,upstream_gene_variant,,ENST00000507670,;	C	ENST00000335016	Transcript	missense_variant	1624/3804	1458/3486	486/1161	Q/H	caG/caC	rs2114202	1		1	BMP2K	HGNC	HGNC:18041	protein_coding	YES	CCDS47083.1	ENSP00000334836	Q9NSY1		UPI00001BDC7C	NM_198892.1	tolerated_low_confidence(0.27)		11/16		Gene3D:1.10.510.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22967,hmmpanther:PTHR22967:SF10,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs2114202	.												C	3	2	23	78871009	78871009	G	C	1	0	0	0	0	1	0	0	0	1615	962	34	4		4	BMP2K	4	78871009	Missense_Mutation	SNP	G	C3L-01330_TP		78871009	111343546	12	7550											
GALNT7	0	.	GRCh38	chr4	173295764	173295764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctgcctcttttttttaagGttttgatataccttgatgcc	7	19	6	9	0	1	2	0	2	1	0	1	2	1	2	4	1	3	1	4	1	3	9	novel		C3L-01330_TP	C3L-01330_NB	G	G																c.886G>T	p.Val296Phe	p.V296F	ENST00000265000	5/12	135	128	7	113	113	0	varscan-mutect	GALNT7,missense_variant,p.Val296Phe,ENST00000265000,NM_017423.2;GALNT7,missense_variant,p.Val93Phe,ENST00000505308,;GALNT7,missense_variant,p.Val296Phe,ENST00000512285,;GALNT7,downstream_gene_variant,,ENST00000502407,;GALNT7,upstream_gene_variant,,ENST00000506317,;	T	ENST00000265000	Transcript	missense_variant,splice_region_variant	969/4307	886/1974	296/657	V/F	Gtt/Ttt		1		1	GALNT7	HGNC	HGNC:4129	protein_coding	YES	CCDS3815.1	ENSP00000265000	Q86SF2		UPI000000DB3C	NM_017423.2	deleterious(0)		5/12		Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF60,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	23	173295764	173295764	G	T	1	0	0	0	0	1	0	0	0	6089	1275	44	2		2	GALNT7	4	173295764	Missense_Mutation	SNP	G	C3L-01330_TP	94424755	173295764	16918791	13	7551											
MAP1B	0	.	GRCh38	chr5	72199901	72199901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatatcgactctgaagaCgagtcggaaaccatccccac	13	6	8	14	3	1	2	0	1	1	1	4	5	2	3	4	1	1	0	4	1	4	1	rs77733766		C3L-01330_TP	C3L-01330_NB	C	C																c.6546C>T	p.=	p.D2182D	ENST00000296755	5/7	198	186	12	214	214	0	strelka-mutect	MAP1B,synonymous_variant,p.=,ENST00000296755,NM_001324255.1,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;	T	ENST00000296755	Transcript	synonymous_variant	6844/12036	6546/7407	2182/2468	D	gaC/gaT	rs77733766,COSM3856179	1		1	MAP1B	HGNC	HGNC:6836	protein_coding	YES	CCDS4012.1	ENSP00000296755	P46821		UPI000013E382	NM_001324255.1,NM_005909.3			5/7		hmmpanther:PTHR13843:SF5,hmmpanther:PTHR13843											0,1						LOW	1	SNV	2		0,1	1										PASS		rs77733766	.												T	2	4	23	72199901	72199901	C	T	1	0	0	0	0	0	0	0	1	9151	535	19	1		1	MAP1B	5	72199901	Silent	SNP	C	C3L-01330_TP		72199901	109338358	14	7552											
TMED7	0	.	GRCh38	chr5	115620459	115620459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaagagcactgactcggttCtcactaggaaacaaaggtgg	13	8	12	8	1	1	2	1	1	1	1	3	3	1	3	0	4	2	3	0	4	4	3	novel		C3L-01330_TP	C3L-01330_NB	C	C																c.414G>A	p.=	p.E138E	ENST00000456936	2/3	42	38	4	33	33	0	strelka-mutect	TMED7,synonymous_variant,p.=,ENST00000456936,NM_181836.5;TMED7-TICAM2,synonymous_variant,p.=,ENST00000282382,NM_001164468.3;TMED7-TICAM2,synonymous_variant,p.=,ENST00000333314,NM_001164469.3;TMED7,downstream_gene_variant,,ENST00000508420,;AC010226.4,non_coding_transcript_exon_variant,,ENST00000515570,;AC010226.4,downstream_gene_variant,,ENST00000508517,;TMED7,non_coding_transcript_exon_variant,,ENST00000503010,;TMED7-TICAM2,upstream_gene_variant,,ENST00000514548,;	T	ENST00000456936	Transcript	synonymous_variant	795/3757	414/675	138/224	E	gaG/gaA		1		-1	TMED7	HGNC	HGNC:24253	protein_coding	YES	CCDS4120.1	ENSP00000405926	Q9Y3B3		UPI000007008A	NM_181836.5			2/3		hmmpanther:PTHR22811:SF49,hmmpanther:PTHR22811,Pfam_domain:PF01105,SMART_domains:SM01190																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	23	115620459	115620459	C	T	1	0	0	0	0	0	0	0	1	16454	912	32	3		3	TMED7	5	115620459	Silent	SNP	C	C3L-01330_TP	43420558	115620459	65917800	15	7553											
ETF1	0	.	GRCh38	chr5	138511197	138511197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgatttcatcaaagtatCgtcctacgattagggatcag	11	12	10	8	2	3	1	3	1	0	0	5	3	4	2	1	2	1	2	1	2	4	4	novel		C3L-01330_TP	C3L-01330_NB	C	C																c.866G>T	p.Arg289Leu	p.R289L	ENST00000360541	8/11	92	58	34	82	82	0	strelka-varscan-mutect	ETF1,missense_variant,p.Arg256Leu,ENST00000499810,NM_001256302.1,NM_001291975.1,NM_001291974.1;ETF1,missense_variant,p.Arg289Leu,ENST00000360541,NM_004730.3;ETF1,missense_variant,p.Arg275Leu,ENST00000503014,NM_001282185.1;ETF1,downstream_gene_variant,,ENST00000572514,;ETF1,downstream_gene_variant,,ENST00000507939,;ETF1,non_coding_transcript_exon_variant,,ENST00000506345,;ETF1,downstream_gene_variant,,ENST00000512198,;ETF1,downstream_gene_variant,,ENST00000503183,;	A	ENST00000360541	Transcript	missense_variant	1088/3742	866/1314	289/437	R/L	cGa/cTa		1		-1	ETF1	HGNC	HGNC:3477	protein_coding	YES	CCDS4207.1	ENSP00000353741	P62495		UPI00001110CB	NM_004730.3	deleterious(0.05)		8/11		hmmpanther:PTHR10113,TIGRFAM_domain:TIGR03676,Gene3D:3.30.1330.30,Pfam_domain:PF03465,Superfamily_domains:SSF55315																	MODERATE	1	SNV	1			1										PASS		rs1435593497	.												A	3	1	23	138511197	138511197	C	A	1	0	0	0	0	1	0	0	0	5130	898	31	1		1	ETF1	5	138511197	Missense_Mutation	SNP	C	C3L-01330_TP	22890738	138511197	43027062	16	7554											
ZSCAN31	0	.	GRCh38	chr6	28326540	28326540	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctccgccgatgttcatTcaggcttgacctccggctga	5	11	12	13	3	2	2	2	2	0	0	4	3	4	2	4	3	0	4	4	3	0	3	novel		C3L-01330_TP	C3L-01330_NB	T	T																c.847A>T	p.Asn283Tyr	p.N283Y	ENST00000414429	8/8	183	151	32	159	159	0	strelka-varscan-mutect	ZSCAN31,missense_variant,p.Asn283Tyr,ENST00000414429,NM_001135215.1;ZSCAN31,missense_variant,p.Asn283Tyr,ENST00000396838,NM_145909.2;ZSCAN31,missense_variant,p.Asn283Tyr,ENST00000439158,NM_001135216.1;ZSCAN31,missense_variant,p.Asn124Tyr,ENST00000611469,NM_001243242.1,NM_001243244.1;ZSCAN31,missense_variant,p.Asn283Tyr,ENST00000344279,NM_030899.4,NM_001243241.1;ZSCAN31,missense_variant,p.Asn124Tyr,ENST00000446474,NM_001243243.1;ZSCAN31,missense_variant,p.Asn124Tyr,ENST00000435857,;ZSCAN31,downstream_gene_variant,,ENST00000453745,;ZSCAN31,downstream_gene_variant,,ENST00000446222,;ZSCAN31,downstream_gene_variant,,ENST00000434036,;ZSCAN31,downstream_gene_variant,,ENST00000439636,;ZSCAN31,downstream_gene_variant,,ENST00000447021,;ZSCAN31,downstream_gene_variant,,ENST00000439628,;ZSCAN31,downstream_gene_variant,,ENST00000426756,;ZSCAN31,downstream_gene_variant,,ENST00000426434,;ZSCAN31,downstream_gene_variant,,ENST00000414431,;ZSCAN31,downstream_gene_variant,,ENST00000444081,;ZSCAN31,non_coding_transcript_exon_variant,,ENST00000481934,;	A	ENST00000414429	Transcript	missense_variant	1751/3551	847/1221	283/406	N/Y	Aat/Tat		1		-1	ZSCAN31	HGNC	HGNC:14097	protein_coding	YES	CCDS4649.1	ENSP00000390076	Q96LW9	A0A024RCL4	UPI000013C358	NM_001135215.1	deleterious(0.01)		8/8		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF48,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	23	28326540	28326540	T	A	1	0	0	0	0	1	0	0	0	18834	1783	62	4		4	ZSCAN31	6	28326540	Missense_Mutation	SNP	T	C3L-01330_TP		28326540	142479439	17	7555											
PRDM1	0	.	GRCh38	chr6	106088291	106088291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaatggacatggaggatgcgGatatgactctgtggacagag	13	8	15	5	1	1	2	0	1	1	1	1	7	1	7	0	5	1	0	0	5	2	1	rs762587225		C3L-01330_TP	C3L-01330_NB	G	G																c.133G>A	p.Asp45Asn	p.D45N	ENST00000369096	2/7	315	292	23	338	338	0	strelka-varscan	PRDM1,missense_variant,p.Asp45Asn,ENST00000369096,NM_001198.3;PRDM1,missense_variant,p.Asp9Asn,ENST00000369091,;PRDM1,missense_variant,p.Asp9Asn,ENST00000424894,;ATG5,intron_variant,,ENST00000636437,;ATG5,intron_variant,,ENST00000636335,;PRDM1,upstream_gene_variant,,ENST00000489365,;	A	ENST00000369096	Transcript	missense_variant	367/5164	133/2478	45/825	D/N	Gat/Aat	rs762587225	1		1	PRDM1	HGNC	HGNC:9346	protein_coding	YES	CCDS5054.2	ENSP00000358092	O75626		UPI0000D49069	NM_001198.3	deleterious(0)		2/7		PIRSF_domain:PIRSF013212																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	23	106088291	106088291	G	A	1	0	0	0	0	1	0	0	0	12581	1174	41	3		3	PRDM1	6	106088291	Missense_Mutation	SNP	G	C3L-01330_TP	77761751	106088291	64717688	18	7556											
ROS1	0	.	GRCh38	chr6	117386964	117386964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtttactccaaagcccatCttctttcacagccatgataa	11	13	5	12	0	3	1	1	1	2	0	4	1	4	1	3	1	3	1	3	1	3	5	novel		C3L-01330_TP	C3L-01330_NB	C	C																c.2050G>A	p.Asp684Asn	p.D684N	ENST00000368508	14/43	91	82	9	102	102	0	strelka-varscan	ROS1,missense_variant,p.Asp684Asn,ENST00000368508,NM_002944.2;ROS1,missense_variant,p.Asp679Asn,ENST00000368507,;RP1-179P9.3,intron_variant,,ENST00000467125,;	T	ENST00000368508	Transcript	missense_variant	2249/7435	2050/7044	684/2347	D/N	Gat/Aat		1		-1	ROS1	HGNC	HGNC:10261	protein_coding	YES	CCDS5116.1	ENSP00000357494	P08922		UPI000013D467	NM_002944.2	tolerated(0.12)		14/43		Gene3D:2.120.10.30,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	23	117386964	117386964	C	T	1	0	0	0	0	1	0	0	0	13708	913	32	3		3	ROS1	6	117386964	Missense_Mutation	SNP	C	C3L-01330_TP	11298673	117386964	53419015	19	7557											
RNF216	0	.	GRCh38	chr7	5741798	5741798	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgagattgggtcgtgaTctctgaggtttatttgtcta	7	18	12	4	1	2	4	0	4	2	1	4	5	2	4	0	2	0	1	0	2	2	6	novel		C3L-01330_TP	C3L-01330_NB	T	T																c.219A>G	p.=	p.R73R	ENST00000389902	4/17	107	97	10	84	84	0	strelka-varscan-mutect	RNF216,synonymous_variant,p.=,ENST00000389902,NM_207111.3;RNF216,intron_variant,,ENST00000425013,NM_207116.2;RNF216,intron_variant,,ENST00000389900,;RNF216,intron_variant,,ENST00000411812,;RNF216,upstream_gene_variant,,ENST00000479541,;	C	ENST00000389902	Transcript	synonymous_variant	487/3293	219/2772	73/923	R	agA/agG		1		-1	RNF216	HGNC	HGNC:21698	protein_coding	YES	CCDS34594.1	ENSP00000374552	Q9NWF9		UPI000013F5B3	NM_207111.3			4/17		hmmpanther:PTHR22770,hmmpanther:PTHR22770:SF13																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	23	5741798	5741798	T	C	1	0	0	0	0	0	0	0	1	13659	1432	50	5		5	RNF216	7	5741798	Silent	SNP	T	C3L-01330_TP		5741798	153604175	20	7558											
THSD7A	0	.	GRCh38	chr7	11411265	11411265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaacacaatccaacatcCttgtttttattccatttcca	11	16	2	12	1	0	0	0	0	0	0	5	1	4	0	4	0	2	1	4	0	4	7	novel		C3L-01330_TP	C3L-01330_NB	C	C																c.3740G>A	p.Arg1247Lys	p.R1247K	ENST00000423059	19/28	137	125	12	132	132	0	strelka-varscan-mutect	THSD7A,missense_variant,p.Arg1247Lys,ENST00000423059,NM_015204.2;THSD7A,missense_variant,p.Arg1247Lys,ENST00000617773,;AC004538.3,intron_variant,,ENST00000445839,;AC004160.4,intron_variant,,ENST00000425837,;	T	ENST00000423059	Transcript	missense_variant	3992/10663	3740/4974	1247/1657	R/K	aGg/aAg		1		-1	THSD7A	HGNC	HGNC:22207	protein_coding	YES	CCDS47543.1	ENSP00000406482	Q9UPZ6		UPI00006C0B74	NM_015204.2	deleterious(0)		19/28		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,SMART_domains:SM00209																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	23	11411265	11411265	C	T	1	0	0	0	0	1	0	0	0	16313	681	24	3		3	THSD7A	7	11411265	Missense_Mutation	SNP	C	C3L-01330_TP	5669467	11411265	147934708	21	7559											
MYO1G	0	.	GRCh38	chr7	44965701	44965701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggggcagcggccacaCaaggtcacgcccgtagagtg	10	3	16	12	3	1	1	1	0	0	1	1	1	1	1	2	4	2	3	2	4	2	1	novel		C3L-01330_TP	C3L-01330_NB	C	C																c.2317G>A	p.Val773Met	p.V773M	ENST00000258787	17/22	191	164	27	205	205	0	strelka-varscan	MYO1G,missense_variant,p.Val773Met,ENST00000258787,NM_033054.2;RP4-647J21.1,upstream_gene_variant,,ENST00000568457,;MYO1G,3_prime_UTR_variant,,ENST00000495831,;MYO1G,non_coding_transcript_exon_variant,,ENST00000488554,;MYO1G,non_coding_transcript_exon_variant,,ENST00000463516,;MYO1G,non_coding_transcript_exon_variant,,ENST00000483585,;MYO1G,downstream_gene_variant,,ENST00000480503,;MYO1G,downstream_gene_variant,,ENST00000464434,;	T	ENST00000258787	Transcript	missense_variant	2454/3267	2317/3057	773/1018	V/M	Gtg/Atg		1		-1	MYO1G	HGNC	HGNC:13880	protein_coding	YES	CCDS34629.1	ENSP00000258787	B0I1T2		UPI00001D747C	NM_033054.2	tolerated(0.1)		17/22		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF381																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	23	44965701	44965701	C	T	1	0	0	0	0	1	0	0	0	10075	478	17	3		3	MYO1G	7	44965701	Missense_Mutation	SNP	C	C3L-01330_TP	33554436	44965701	114380272	22	7560											
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcacagattttgggcTggccaaactgctgggtgcgg	9	9	14	9	1	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	2	2	rs121434568		C3L-01330_TP	C3L-01330_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	496	389	107	396	396	0	strelka-varscan	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												G	3	3	23	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3L-01330_TP	10226121	55191822	104154151	23	7561											
TPK1	0	.	GRCh38	chr7	144453554	144453554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtcaacaggttagcttttGatggccatggtccagaggag	10	10	13	8	0	1	2	1	1	0	1	2	3	2	3	2	4	2	2	2	4	2	3	novel		C3L-01330_TP	C3L-01330_NB	G	G																c.723C>G	p.Ile241Met	p.I241M	ENST00000360057	9/9	128	119	9	129	129	0	strelka-varscan-mutect	TPK1,missense_variant,p.Ile241Met,ENST00000360057,NM_022445.3;TPK1,missense_variant,p.Ile192Met,ENST00000378099,NM_001042482.1;TPK1,missense_variant,p.Ile187Met,ENST00000538212,;RNU6ATAC40P,downstream_gene_variant,,ENST00000408580,;TPK1,non_coding_transcript_exon_variant,,ENST00000547966,;TPK1,3_prime_UTR_variant,,ENST00000482940,;TPK1,3_prime_UTR_variant,,ENST00000378098,;	C	ENST00000360057	Transcript	missense_variant	826/2439	723/732	241/243	I/M	atC/atG		1		-1	TPK1	HGNC	HGNC:17358	protein_coding	YES	CCDS5888.1	ENSP00000353165	Q9H3S4	A0A090N8Y0	UPI000004FD50	NM_022445.3	deleterious(0)		9/9		hmmpanther:PTHR13622,PIRSF_domain:PIRSF031057,Gene3D:2.60.120.320,Superfamily_domains:SSF63862																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	23	144453554	144453554	G	C	1	0	0	0	0	1	0	0	0	16885	1280	45	4		4	TPK1	7	144453554	Missense_Mutation	SNP	G	C3L-01330_TP	89261732	144453554	14892419	24	7562											
CSMD3	0	.	GRCh38	chr8	112289410	112289410	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatggccattcaattggcAggttcttgatgactggccta	9	12	10	10	0	2	2	1	2	1	0	2	2	2	2	3	4	0	2	3	4	3	5	novel		C3L-01330_TP	C3L-01330_NB	A	A																c.9103T>G	p.Cys3035Gly	p.C3035G	ENST00000297405	57/71	683	625	58	428	427	1	strelka-varscan-mutect	CSMD3,missense_variant,p.Cys3035Gly,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Cys2995Gly,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Cys2866Gly,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Cys2305Gly,ENST00000339701,;	C	ENST00000297405	Transcript	missense_variant	9348/13212	9103/11124	3035/3707	C/G	Tgc/Ggc		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		57/71		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	23	112289410	112289410	A	C	1	0	0	0	0	1	0	0	0	3747	188	7	5		5	CSMD3	8	112289410	Missense_Mutation	SNP	A	C3L-01330_TP		112289410	32849226	25	7563											
SLC45A4	0	.	GRCh38	chr8	141218670	141218670	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcgtgcaggaacagcaGctcgggctccaggtccagcg	8	6	15	12	3	0	0	0	0	0	0	4	2	2	1	2	3	5	4	2	3	1	0			C3L-01330_TP	C3L-01330_NB	G	G																c.970C>G	p.Leu324Val	p.L324V	ENST00000517878	4/8	194	164	30	155	155	0	strelka-varscan-mutect	SLC45A4,missense_variant,p.Leu273Val,ENST00000519067,NM_001286648.1;SLC45A4,missense_variant,p.Leu273Val,ENST00000024061,NM_001080431.2;SLC45A4,missense_variant,p.Leu324Val,ENST00000517878,NM_001286646.1;SLC45A4,downstream_gene_variant,,ENST00000520137,;SLC45A4,downstream_gene_variant,,ENST00000519986,;	C	ENST00000517878	Transcript	missense_variant	970/3470	970/2427	324/808	L/V	Ctg/Gtg	COSM1623676,COSM4781356	1		-1	SLC45A4	HGNC	HGNC:29196	protein_coding	YES	CCDS75795.1	ENSP00000428137		E7EV90	UPI0001E8F5C7	NM_001286646.1	tolerated(0.15)		4/8													1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	23	141218670	141218670	G	C	1	0	0	0	0	1	0	0	0	14920	962	34	4		4	SLC45A4	8	141218670	Missense_Mutation	SNP	G	C3L-01330_TP	28929260	141218670	3919966	26	7564											
CACNA1B	0	.	GRCh38	chr9	138073553	138073553	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggctgatcaagctgctccgCcagggctacaccatccgcat	8	7	10	16	3	1	1	1	1	0	0	3	1	3	1	4	2	3	5	4	2	2	1			C3L-01330_TP	C3L-01330_NB	C	C																c.4740C>T	p.=	p.R1580R	ENST00000371372	33/47	119	107	12	176	176	0	strelka-varscan-mutect	CACNA1B,synonymous_variant,p.=,ENST00000371372,NM_000718.3;CACNA1B,synonymous_variant,p.=,ENST00000371363,;CACNA1B,synonymous_variant,p.=,ENST00000371355,;CACNA1B,synonymous_variant,p.=,ENST00000371357,;CACNA1B,synonymous_variant,p.=,ENST00000277549,;CACNA1B,synonymous_variant,p.=,ENST00000277551,NM_001243812.1;CACNA1B,upstream_gene_variant,,ENST00000413253,;	T	ENST00000371372	Transcript	synonymous_variant	4885/9790	4740/7020	1580/2339	R	cgC/cgT	COSM3906208	1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3			33/47		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324											1						LOW	1	SNV	5		1	1										PASS		.	.												T	2	4	23	138073553	138073553	C	T	1	0	0	0	0	0	0	0	1	2227	726	26	3		3	CACNA1B	9	138073553	Silent	SNP	C	C3L-01330_TP		138073553	321164	27	7565											
PLXDC2	0	.	GRCh38	chr10	20211711	20211711	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcggcaggactgggtggaCagtggatgccctgaagaggt	9	7	17	8	1	0	2	0	1	0	1	1	5	0	5	1	6	1	1	1	6	1	0	novel		C3L-01330_TP	C3L-01330_NB	C	C																c.1104C>T	p.=	p.D368D	ENST00000377252	10/14	102	78	24	123	123	0	strelka-varscan-mutect	PLXDC2,synonymous_variant,p.=,ENST00000377252,NM_032812.8;PLXDC2,synonymous_variant,p.=,ENST00000377242,NM_001282736.1;PLXDC2,non_coding_transcript_exon_variant,,ENST00000377238,;	T	ENST00000377252	Transcript	synonymous_variant	1945/12468	1104/1590	368/529	D	gaC/gaT		1		1	PLXDC2	HGNC	HGNC:21013	protein_coding	YES	CCDS7132.1	ENSP00000366460	Q6UX71		UPI0000048F2C	NM_032812.8			10/14		hmmpanther:PTHR13055:SF11,hmmpanther:PTHR13055,Pfam_domain:PF01437,SMART_domains:SM00423																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	23	20211711	20211711	C	T	1	0	0	0	0	0	0	0	1	12224	477	17	3		3	PLXDC2	10	20211711	Silent	SNP	C	C3L-01330_TP		20211711	113585711	28	7566											
SVIL	0	.	GRCh38	chr10	29473969	29473969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgccctcaccgagtgctCtcccttctggcgacttccca	4	10	9	18	2	3	0	1	0	2	0	5	2	4	0	4	2	2	2	4	2	0	2	novel		C3L-01330_TP	C3L-01330_NB	C	C																c.5398G>A	p.Glu1800Lys	p.E1800K	ENST00000355867	30/38	189	174	15	176	176	0	strelka-varscan-mutect	SVIL,missense_variant,p.Glu1768Lys,ENST00000375398,;SVIL,missense_variant,p.Glu1800Lys,ENST00000355867,NM_021738.2;SVIL,missense_variant,p.Glu1374Lys,ENST00000375400,NM_003174.3;SVIL,missense_variant,p.Glu726Lys,ENST00000632315,;SVIL-AS1,intron_variant,,ENST00000414457,;SVIL-AS1,intron_variant,,ENST00000446807,;SVIL-AS1,intron_variant,,ENST00000413405,;SVIL-AS1,intron_variant,,ENST00000423223,;SVIL-AS1,downstream_gene_variant,,ENST00000455774,;SVIL,non_coding_transcript_exon_variant,,ENST00000460007,;	T	ENST00000355867	Transcript	missense_variant	6151/7586	5398/6645	1800/2214	E/K	Gag/Aag		1		-1	SVIL	HGNC	HGNC:11480	protein_coding	YES	CCDS7164.1	ENSP00000348128	O95425		UPI0000366678	NM_021738.2	deleterious(0)		30/38		hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF45,Gene3D:3.40.20.10,SMART_domains:SM00262,Superfamily_domains:SSF55753																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	23	29473969	29473969	C	T	1	0	0	0	0	1	0	0	0	15806	922	32	3		3	SVIL	10	29473969	Missense_Mutation	SNP	C	C3L-01330_TP	9262258	29473969	104323453	29	7567											
HECTD2	0	.	GRCh38	chr10	91482989	91482989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcagtttaataacacatCtacgtatgtcatctatgctc	11	15	4	11	1	4	0	2	0	2	0	6	0	5	0	1	0	3	3	1	0	5	6	novel		C3L-01330_TP	C3L-01330_NB	C	C																c.734C>T	p.Ser245Phe	p.S245F	ENST00000446394	8/22	118	108	10	115	115	0	strelka-varscan-mutect	HECTD2,missense_variant,p.Ser245Phe,ENST00000446394,NM_001284274.1;HECTD2,missense_variant,p.Ser245Phe,ENST00000298068,NM_182765.4;HECTD2,upstream_gene_variant,,ENST00000371667,;HECTD2,upstream_gene_variant,,ENST00000498446,;	T	ENST00000446394	Transcript	missense_variant	888/4939	734/2343	245/780	S/F	tCt/tTt		1		1	HECTD2	HGNC	HGNC:26736	protein_coding	YES	CCDS60591.1	ENSP00000401023		E7ERR3	UPI0001AE6DAB	NM_001284274.1	tolerated(0.08)		8/22		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF301																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	23	91482989	91482989	C	T	1	0	0	0	0	1	0	0	0	6921	913	32	3		3	HECTD2	10	91482989	Missense_Mutation	SNP	C	C3L-01330_TP	62009020	91482989	42314433	30	7568											
DKK3	0	.	GRCh38	chr11	11964720	11964720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacaaagccaggctctaaaCgtgggagcctgcccaggccg	10	4	14	13	2	1	0	0	0	1	0	1	2	1	2	4	4	4	1	4	4	3	1	rs770613373		C3L-01330_TP	C3L-01330_NB	C	C																c.839G>T	p.Arg280Leu	p.R280L	ENST00000525493	8/8	115	84	31	126	126	0	strelka-varscan-mutect	DKK3,missense_variant,p.Arg280Leu,ENST00000525493,;DKK3,intron_variant,,ENST00000396505,NM_015881.5;DKK3,intron_variant,,ENST00000326932,NM_001018057.1,NM_013253.4;DKK3,downstream_gene_variant,,ENST00000533813,;DKK3,downstream_gene_variant,,ENST00000534511,;DKK3,downstream_gene_variant,,ENST00000529338,;DKK3,intron_variant,,ENST00000527132,;DKK3,intron_variant,,ENST00000528188,;DKK3,downstream_gene_variant,,ENST00000532873,;DKK3,downstream_gene_variant,,ENST00000525927,;DKK3,downstream_gene_variant,,ENST00000532372,;	A	ENST00000525493	Transcript	missense_variant	997/1326	839/1095	280/364	R/L	cGt/cTt	rs770613373	1		-1	DKK3	HGNC	HGNC:2893	protein_coding			ENSP00000433112		F6SYF8	UPI0001AE6B78		tolerated_low_confidence(0.11)		8/8		hmmpanther:PTHR12113:SF8,hmmpanther:PTHR12113																	MODERATE		SNV	2			1										PASS		rs770613373	.												A	3	1	23	11964720	11964720	C	A	1	0	0	0	0	1	0	0	0	4352	536	19	1		1	DKK3	11	11964720	Missense_Mutation	SNP	C	C3L-01330_TP		11964720	123121902	31	7569											
BCL9L	0	.	GRCh38	chr11	118902396	118902396	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtggctgctgggggggAgggggggcttgtgctggtgg	1	9	27	4	0	0	0	0	0	0	0	0	1	0	1	0	10	2	4	0	10	0	1	novel		C3L-01330_TP	C3L-01330_NB	A	A																c.1347T>C	p.=	p.P449P	ENST00000334801	6/8	28	24	4	29	29	0	strelka-mutect	BCL9L,synonymous_variant,p.=,ENST00000334801,NM_182557.2;BCL9L,synonymous_variant,p.=,ENST00000526143,;CXCR5,downstream_gene_variant,,ENST00000292174,NM_001716.4;BCL9L,intron_variant,,ENST00000530293,;BCL9L,downstream_gene_variant,,ENST00000527266,;	G	ENST00000334801	Transcript	synonymous_variant	2312/10005	1347/4500	449/1499	P	ccT/ccC		1		-1	BCL9L	HGNC	HGNC:23688	protein_coding	YES	CCDS8403.1	ENSP00000335320	Q86UU0		UPI0000192102	NM_182557.2			6/8		hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF3,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1231023200	.												G	2	3	23	118902396	118902396	A	G	1	0	0	0	0	0	0	0	1	1529	291	11	5		5	BCL9L	11	118902396	Silent	SNP	A	C3L-01330_TP	106937676	118902396	16184226	32	7570											
UBE3B	0	.	GRCh38	chr12	109509670	109509670	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcactatctcctcttTcctgaattcttttgtgttta	5	20	6	10	0	4	1	1	1	3	0	6	1	5	1	2	1	0	2	2	1	3	7	novel		C3L-01330_TP	C3L-01330_NB	T	T																c.1697T>C	p.Phe566Ser	p.F566S	ENST00000342494	16/28	73	61	12	90	90	0	strelka-varscan-mutect	UBE3B,missense_variant,p.Phe566Ser,ENST00000342494,NM_130466.3;UBE3B,missense_variant,p.Phe566Ser,ENST00000434735,NM_183415.2;UBE3B,missense_variant,p.Phe566Ser,ENST00000539599,;UBE3B,intron_variant,,ENST00000535900,;UBE3B,missense_variant,p.Phe566Ser,ENST00000449510,;UBE3B,non_coding_transcript_exon_variant,,ENST00000539584,;	C	ENST00000342494	Transcript	missense_variant	2292/5722	1697/3207	566/1068	F/S	tTc/tCc		1		1	UBE3B	HGNC	HGNC:13478	protein_coding	YES	CCDS9129.1	ENSP00000340596	Q7Z3V4	A0A024RBI2	UPI000013DC3B	NM_130466.3	deleterious(0)		16/28		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF352																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	23	109509670	109509670	T	C	1	0	0	0	0	1	0	0	0	17403	1783	62	5		5	UBE3B	12	109509670	Missense_Mutation	SNP	T	C3L-01330_TP		109509670	23765639	33	7571											
EP400	0	.	GRCh38	chr12	131960716	131960716	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcagccggcccaccccAacccacccccgtcccccgca	8	1	8	24	3	0	0	0	0	0	0	1	1	1	1	9	2	3	2	9	2	1	0	rs759890586		C3L-01330_TP	C3L-01330_NB	A	A																c.97A>C	p.Asn33His	p.N33H	ENST00000389562	1/52	114	104	10	98	98	0	varscan-mutect	EP400,missense_variant,p.Asn33His,ENST00000389562,;EP400,missense_variant,p.Asn33His,ENST00000389561,NM_015409.4;EP400,missense_variant,p.Asn33His,ENST00000333577,;EP400,missense_variant,p.Asn33His,ENST00000332482,;	C	ENST00000389562	Transcript	missense_variant	132/12836	97/9372	33/3123	N/H	Aac/Cac	rs759890586	1		1	EP400	HGNC	HGNC:11958	protein_coding	YES	CCDS31929.2	ENSP00000374213	Q96L91		UPI00004566BC		deleterious_low_confidence(0)		1/52		Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799,Pfam_domain:PF15790																	MODERATE	1	SNV	1			1										PASS		rs759890586	.												C	3	2	23	131960716	131960716	A	C	1	0	0	0	0	1	0	0	0	4995	130	5	5		5	EP400	12	131960716	Missense_Mutation	SNP	A	C3L-01330_TP	22451046	131960716	1314593	34	7572											
BRCA2	0	.	GRCh38	chr13	32326100	32326100	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgctttgttttattttaGtcctgttgttctacaatgta	7	23	6	5	0	1	0	0	0	1	0	2	0	2	0	1	0	2	5	1	0	5	10	novel		C3L-01330_TP	C3L-01330_NB	G	G																c.426-1G>C		p.X142_splice	ENST00000380152		74	67	7	92	92	0	strelka-varscan-mutect	BRCA2,splice_acceptor_variant,,ENST00000380152,;BRCA2,splice_acceptor_variant,,ENST00000544455,NM_000059.3;BRCA2,splice_acceptor_variant,,ENST00000614259,;BRCA2,splice_acceptor_variant,,ENST00000530893,;	C	ENST00000380152	Transcript	splice_acceptor_variant	-/11986	426/10257	142/3418				1		1	BRCA2	HGNC	HGNC:1101	protein_coding	YES	CCDS9344.1	ENSP00000369497	P51587		UPI00001FCBCC					4/26																		HIGH	1	SNV	5			1										PASS		rs1060502485	.												C	5	2	23	32326100	32326100	G	C	1	0	0	0	0	0	0	1	0	1669	1043	36	4		4	BRCA2	13	32326100	Splice_Site	SNP	G	C3L-01330_TP		32326100	82038228	35	7573											
CMTM5	0	.	GRCh38	chr14	23378705	23378705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaggaggaccacatccgCtagatctactctcccactca	12	8	6	15	1	4	1	2	0	2	1	6	3	5	3	3	2	1	1	3	2	3	2	novel		C3L-01330_TP	C3L-01330_NB	C	C																c.316C>T	p.=	p.L106L	ENST00000339180	3/6	184	165	19	221	221	0	strelka-varscan-mutect	CMTM5,synonymous_variant,p.=,ENST00000339180,NM_001288746.1;CMTM5,intron_variant,,ENST00000359320,NM_138460.2;CMTM5,intron_variant,,ENST00000555731,;CMTM5,intron_variant,,ENST00000397227,NM_001288744.1;CMTM5,intron_variant,,ENST00000342473,NM_001288745.1;CMTM5,intron_variant,,ENST00000382809,NM_001037288.1;MYH6,downstream_gene_variant,,ENST00000405093,NM_002471.3;MYH6,downstream_gene_variant,,ENST00000356287,;IL25,downstream_gene_variant,,ENST00000329715,NM_022789.3;IL25,downstream_gene_variant,,ENST00000397242,NM_172314.1;CMTM5,non_coding_transcript_exon_variant,,ENST00000555487,;CMTM5,intron_variant,,ENST00000553750,;	T	ENST00000339180	Transcript	synonymous_variant	532/1173	316/672	106/223	L	Cta/Tta		1		1	CMTM5	HGNC	HGNC:19176	protein_coding	YES	CCDS73617.1	ENSP00000344819	Q96DZ9		UPI00001B5BF1	NM_001288746.1			3/6		Pfam_domain:PF01284,PROSITE_profiles:PS51225																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	23	23378705	23378705	C	T	1	0	0	0	0	0	0	0	1	3362	796	28	3		3	CMTM5	14	23378705	Silent	SNP	C	C3L-01330_TP		23378705	83665013	36	7574											
NUMB	0	.	GRCh38	chr14	73279375	73279375	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctacgggtgctagagcAgtatgggctggcttagcaag	9	10	15	7	1	0	1	0	0	0	1	0	1	0	1	0	3	5	7	0	3	5	5	novel		C3L-01330_TP	C3L-01330_NB	A	A																c.1146T>A	p.=	p.T382T	ENST00000555238	12/13	75	62	13	82	82	0	strelka-varscan-mutect	NUMB,synonymous_variant,p.=,ENST00000556772,;NUMB,synonymous_variant,p.=,ENST00000555238,NM_001005743.1;NUMB,synonymous_variant,p.=,ENST00000557597,NM_003744.5;NUMB,synonymous_variant,p.=,ENST00000355058,;NUMB,synonymous_variant,p.=,ENST00000359560,;NUMB,intron_variant,,ENST00000554546,NM_001005745.1;NUMB,intron_variant,,ENST00000356296,NM_001320114.1;NUMB,intron_variant,,ENST00000535282,;NUMB,intron_variant,,ENST00000555394,NM_001005744.1;NUMB,intron_variant,,ENST00000544991,;NUMB,intron_variant,,ENST00000560335,;NUMB,intron_variant,,ENST00000555738,;NUMB,intron_variant,,ENST00000559312,;NUMB,intron_variant,,ENST00000554521,;PAPLN,downstream_gene_variant,,ENST00000340738,NM_173462.3;PAPLN,downstream_gene_variant,,ENST00000559759,;NUMB,downstream_gene_variant,,ENST00000555307,;NUMB,downstream_gene_variant,,ENST00000554394,;NUMB,downstream_gene_variant,,ENST00000555859,;NUMB,downstream_gene_variant,,ENST00000553997,;NUMB,intron_variant,,ENST00000554014,;PAPLN,downstream_gene_variant,,ENST00000555700,;PAPLN,downstream_gene_variant,,ENST00000557061,;NUMB,downstream_gene_variant,,ENST00000557486,;	T	ENST00000555238	Transcript	synonymous_variant	1416/3588	1146/1956	382/651	T	acT/acA		1		-1	NUMB	HGNC	HGNC:8060	protein_coding	YES	CCDS32116.1	ENSP00000451300	P49757	A0A024R6F4	UPI00001309BF	NM_001005743.1			12/13		hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF33,PIRSF_domain:PIRSF017607																	LOW	1	SNV	1			1										PASS		rs1443202767	.												T	2	4	23	73279375	73279375	A	T	1	0	0	0	0	0	0	0	1	10816	175	7	4		4	NUMB	14	73279375	Silent	SNP	A	C3L-01330_TP	49900670	73279375	33764343	37	7575											
SPINT1	0	.	GRCh38	chr15	40844662	40844662	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccagggcacccaggccggGccaccgcccgcgccccctgg	4	2	13	22	4	0	0	0	0	0	0	1	0	1	0	8	4	0	1	8	4	0	0	novel		C3L-01330_TP	C3L-01330_NB	G	G																c.108G>C	p.=	p.G36G	ENST00000344051	2/11	209	173	36	176	176	0	strelka-varscan-mutect	SPINT1,synonymous_variant,p.=,ENST00000344051,NM_181642.2;SPINT1,synonymous_variant,p.=,ENST00000562057,NM_003710.3,NM_001032367.1;SPINT1,synonymous_variant,p.=,ENST00000563656,;SPINT1,synonymous_variant,p.=,ENST00000568823,;SPINT1,upstream_gene_variant,,ENST00000568580,;RP11-532F12.5,upstream_gene_variant,,ENST00000564302,;RP11-532F12.5,upstream_gene_variant,,ENST00000565315,;RP11-532F12.5,upstream_gene_variant,,ENST00000568419,;RP11-532F12.5,upstream_gene_variant,,ENST00000568525,;RP11-532F12.5,upstream_gene_variant,,ENST00000563217,;	C	ENST00000344051	Transcript	synonymous_variant	342/3056	108/1590	36/529	G	ggG/ggC		1		1	SPINT1	HGNC	HGNC:11246	protein_coding	YES	CCDS10067.1	ENSP00000342098	O43278		UPI00001AE46F	NM_181642.2			2/11		Low_complexity_(Seg):seg,hmmpanther:PTHR10083:SF231,hmmpanther:PTHR10083																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	23	40844662	40844662	G	C	1	0	0	0	0	0	0	0	1	15420	1190	42	4		4	SPINT1	15	40844662	Silent	SNP	G	C3L-01330_TP		40844662	61146527	38	7576											
LRRC49	0	.	GRCh38	chr15	70963932	70963934	+	Splice_Site	DEL	GGT	GGT	-																															ctagatatgaagagaatcacGgtgagaacccttccaaagtg																								novel		C3L-01330_TP	C3L-01330_NB	GGT	GGT																c.936+1_936+3delGTG		p.X312_splice	ENST00000560369	9/16	61	43	18	51	51	0	sindel-varindel-pindel	LRRC49,splice_donor_variant,,ENST00000544974,NM_001284357.1;LRRC49,splice_donor_variant,,ENST00000443425,NM_001199018.2;LRRC49,splice_donor_variant,,ENST00000260382,NM_017691.4;LRRC49,splice_donor_variant,,ENST00000560369,NM_001199017.2;LRRC49,splice_donor_variant,,ENST00000560691,;LRRC49,splice_donor_variant,,ENST00000559806,;LRRC49,splice_donor_variant,,ENST00000558808,;LRRC49,splice_donor_variant,,ENST00000558456,;LRRC49,splice_donor_variant,,ENST00000559069,;LRRC49,intron_variant,,ENST00000560158,;LRRC49,splice_donor_variant,,ENST00000436542,;LRRC49,downstream_gene_variant,,ENST00000558137,;LRRC49,downstream_gene_variant,,ENST00000561285,;LRRC49,splice_donor_variant,,ENST00000561081,;LRRC49,splice_donor_variant,,ENST00000560107,;LRRC49,splice_donor_variant,,ENST00000560980,;LRRC49,splice_donor_variant,,ENST00000559685,;LRRC49,non_coding_transcript_exon_variant,,ENST00000559469,;	-	ENST00000560369	Transcript	splice_donor_variant,coding_sequence_variant	1205-?/2586	936-?/2076	312-?/691				1		1	LRRC49	HGNC	HGNC:25965	protein_coding	YES	CCDS58376.1	ENSP00000453273	Q8IUZ0		UPI0001E92A32	NM_001199017.2			9/16	9/15																		HIGH	1	deletion	2	1		1										PASS		.	.												-	8	5	23	70963932	70963932	GGT	-	1	0	1	0	1	0	0	1	0	8901	1130	39	0		0	LRRC49	15	70963932	Splice_Site	DEL	GGT	C3L-01330_TP	30119270	70963932	31027257	39	7577											
ARIH1	0	.	GRCh38	chr15	72474894	72474894	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggtggcgggccggg	0	3	28	10	9	0	0	0	0	0	0	0	0	0	0	1	13	0	0	1	13	0	0	rs754910711		C3L-01330_TP	C3L-01330_NB	C	C																c.255C>T	p.=	p.G85G	ENST00000379887	1/14	117	110	7	104	103	1	varscan-mutect	ARIH1,synonymous_variant,p.=,ENST00000379887,NM_005744.3;ARIH1,synonymous_variant,p.=,ENST00000564062,;RP11-1007O24.3,non_coding_transcript_exon_variant,,ENST00000565181,;RP11-1007O24.3,upstream_gene_variant,,ENST00000562573,;ARIH1,upstream_gene_variant,,ENST00000567762,;ARIH1,synonymous_variant,p.=,ENST00000570085,;	T	ENST00000379887	Transcript	synonymous_variant	569/21681	255/1674	85/557	G	ggC/ggT	rs754910711,COSM4808999	1		1	ARIH1	HGNC	HGNC:689	protein_coding	YES	CCDS10244.1	ENSP00000369217	Q9Y4X5		UPI0000033466	NM_005744.3			1/14		Low_complexity_(Seg):seg											0,1						LOW	1	SNV	1		0,1	1										PASS		rs767633154	.												T	2	4	23	72474894	72474894	C	T	1	0	0	0	0	0	0	0	1	1059	755	27	1		1	ARIH1	15	72474894	Silent	SNP	C	C3L-01330_TP	1510962	72474894	29516295	40	7578											
RP11-566K11.2	0	.	GRCh38	chr16	89935172	89935172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggagtcaccacctccttgCgcttcccgggccagctcaac	6	7	10	18	3	2	0	2	0	0	0	4	1	4	1	5	2	3	2	5	2	1	2	rs751967547		C3L-01330_TP	C3L-01330_NB	C	C																c.1762C>T	p.Arg588Cys	p.R588C	ENST00000556922	5/5	429	346	83	483	483	0	strelka-varscan-mutect	RP11-566K11.2,missense_variant,p.Arg588Cys,ENST00000556922,;TUBB3,missense_variant,p.Arg169Cys,ENST00000554444,NM_001197181.1;TUBB3,missense_variant,p.Arg241Cys,ENST00000315491,NM_006086.3;TUBB3,missense_variant,p.Arg169Cys,ENST00000555810,;TUBB3,intron_variant,,ENST00000555576,;TUBB3,downstream_gene_variant,,ENST00000554336,;TUBB3,downstream_gene_variant,,ENST00000553967,;TUBB3,downstream_gene_variant,,ENST00000625617,;TUBB3,downstream_gene_variant,,ENST00000556565,;TUBB3,downstream_gene_variant,,ENST00000554116,;TUBB3,3_prime_UTR_variant,,ENST00000555609,;TUBB3,downstream_gene_variant,,ENST00000556536,;TUBB3,downstream_gene_variant,,ENST00000557262,;TUBB3,downstream_gene_variant,,ENST00000557490,;TUBB3,downstream_gene_variant,,ENST00000554927,;TUBB3,downstream_gene_variant,,ENST00000553656,;	T	ENST00000556922	Transcript	missense_variant	1856/2776	1762/2394	588/797	R/C	Cgc/Tgc	rs751967547	1		1	RP11-566K11.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000451560		A0A0B4J269	UPI00000718A4		deleterious_low_confidence(0.02)		5/5		Gene3D:3.40.50.1440,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF43,SMART_domains:SM00864,Superfamily_domains:SSF52490																	MODERATE		SNV	2			1										PASS		rs751967547	.												T	3	4	23	89935172	89935172	C	T	1	0	0	0	0	1	0	0	0	13753	768	27	1		1	RP11-566K11.2	16	89935172	Missense_Mutation	SNP	C	C3L-01330_TP		89935172	403173	41	7579											
ARHGEF15	0	.	GRCh38	chr17	8315852	8315852	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtggggcctttctcggtgTatgtggattatgtgcggaac	5	14	15	7	2	1	0	0	0	1	0	2	2	1	2	1	5	2	1	1	5	3	3	novel		C3L-01330_TP	C3L-01330_NB	T	T																c.1519T>C	p.Tyr507His	p.Y507H	ENST00000361926	8/16	128	109	19	152	152	0	strelka-varscan-mutect	ARHGEF15,missense_variant,p.Tyr507His,ENST00000361926,NM_173728.3;ARHGEF15,missense_variant,p.Tyr507His,ENST00000421050,NM_025014.1;ARHGEF15,downstream_gene_variant,,ENST00000579439,;ARHGEF15,downstream_gene_variant,,ENST00000583529,;AC135178.7,downstream_gene_variant,,ENST00000458568,;ARHGEF15,upstream_gene_variant,,ENST00000582060,;ARHGEF15,downstream_gene_variant,,ENST00000455564,;ARHGEF15,downstream_gene_variant,,ENST00000581809,;ARHGEF15,downstream_gene_variant,,ENST00000578286,;	C	ENST00000361926	Transcript	missense_variant	1629/4159	1519/2526	507/841	Y/H	Tat/Cat		1		1	ARHGEF15	HGNC	HGNC:15590	protein_coding	YES	CCDS11139.1	ENSP00000355026	O94989	A0A0S2Z547	UPI000013D2C0	NM_173728.3	deleterious(0)		8/16		Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF7,SMART_domains:SM00325,Superfamily_domains:SSF48065																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	23	8315852	8315852	T	C	1	0	0	0	0	1	0	0	0	1028	1638	57	5		5	ARHGEF15	17	8315852	Missense_Mutation	SNP	T	C3L-01330_TP		8315852	74941589	42	7580											
CNTNAP1	0	.	GRCh38	chr17	42688482	42688482	+	Missense_Mutation	SNP	T	T	A																															ggtaccgactgaatgacggcTtttggcacgaggtgaatttt																								novel		C3L-01330_TP	C3L-01330_NB	T	T																c.1327T>A	p.Phe443Ile	p.F443I	ENST00000264638	9/24	189	151	38	163	163	0	strelka-mutect	CNTNAP1,missense_variant,p.Phe443Ile,ENST00000264638,NM_003632.2;CCR10,upstream_gene_variant,,ENST00000591568,;CTD-3193K9.3,intron_variant,,ENST00000592440,;CNTNAP1,missense_variant,p.Phe443Ile,ENST00000591662,;CNTNAP1,non_coding_transcript_exon_variant,,ENST00000586801,;CNTNAP1,upstream_gene_variant,,ENST00000585534,;	A	ENST00000264638	Transcript	missense_variant	1544/5276	1327/4155	443/1384	F/I	Ttt/Att		1		1	CNTNAP1	HGNC	HGNC:8011	protein_coding	YES	CCDS11436.1	ENSP00000264638	P78357		UPI00001285F6	NM_003632.2	tolerated(0.38)		9/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF4,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	23	42688482	42688482	T	A	1	0	0	0	0	1	0	0	0	3427	1609	56	4		4	CNTNAP1	17	42688482	Missense_Mutation	SNP	T	C3L-01330_TP	34372630	42688482	40568959	43	7581	172	2									
CNTNAP1	0	.	GRCh38	chr17	42688484	42688492	+	In_Frame_Del	DEL	TTGGCACGA	TTGGCACGA	-																															taccgactgaatgacggcttTtggcacgaggtgaattttgt																								novel		C3L-01330_TP	C3L-01330_NB	TTGGCACGA	TTGGCACGA																c.1329_1337delTTGGCACGA	p.Phe443_Glu446delinsLeu	p.F443_E446delinsL	ENST00000264638	9/24	190	157	33	191	191	0	sindel-varindel	CNTNAP1,inframe_deletion,p.Phe443_Glu446delinsLeu,ENST00000264638,NM_003632.2;CCR10,upstream_gene_variant,,ENST00000591568,;CTD-3193K9.3,intron_variant,,ENST00000592440,;CNTNAP1,inframe_deletion,p.Phe443_Glu446delinsLeu,ENST00000591662,;CNTNAP1,non_coding_transcript_exon_variant,,ENST00000586801,;CNTNAP1,upstream_gene_variant,,ENST00000585534,;	-	ENST00000264638	Transcript	inframe_deletion	1546-1554/5276	1329-1337/4155	443-446/1384	FWHE/L	ttTTGGCACGAg/ttg		1		1	CNTNAP1	HGNC	HGNC:8011	protein_coding	YES	CCDS11436.1	ENSP00000264638	P78357		UPI00001285F6	NM_003632.2			9/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF4,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	23	42688484	42688484	TTGGCACGA	-	1	0	1	0	1	0	0	0	0	3427	1838	64	0		0	CNTNAP1	17	42688484	In_Frame_Del	DEL	TTGGCACGA	C3L-01330_TP	2	42688484	40568957	44	7582	172	2									
SLC4A1	0	.	GRCh38	chr17	44258606	44258606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcggctctgagccatgtaGgcatctatgcggaacaccta	9	9	10	13	2	2	1	0	1	2	0	3	2	2	2	3	3	3	3	3	3	4	3	novel		C3L-01330_TP	C3L-01330_NB	G	G																c.894C>T	p.=	p.A298A	ENST00000262418	10/20	288	222	66	201	201	0	strelka-varscan-mutect	SLC4A1,synonymous_variant,p.=,ENST00000262418,NM_000342.3;SLC4A1,intron_variant,,ENST00000399246,;SLC4A1,downstream_gene_variant,,ENST00000471005,;SLC4A1,non_coding_transcript_exon_variant,,ENST00000497360,;SLC4A1,downstream_gene_variant,,ENST00000498270,;	A	ENST00000262418	Transcript	synonymous_variant	1050/4965	894/2736	298/911	A	gcC/gcT		1		-1	SLC4A1	HGNC	HGNC:11027	protein_coding	YES	CCDS11481.1	ENSP00000262418	P02730		UPI00000375B8	NM_000342.3			10/20		Gene3D:1hynR00,Pfam_domain:PF07565,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	23	44258606	44258606	G	A	1	0	0	0	0	0	0	0	1	14927	987	35	3		3	SLC4A1	17	44258606	Silent	SNP	G	C3L-01330_TP	1570122	44258606	38998835	45	7583											
GAA	0	.	GRCh38	chr17	80117686	80117686	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgaggggcagtgggtgacGctgccggcccccctggacac	6	4	17	14	3	0	1	0	1	0	0	0	3	0	2	4	5	2	2	4	5	0	0	rs371528938		C3L-01330_TP	C3L-01330_NB	G	G																c.2418G>A	p.=	p.T806T	ENST00000302262	17/20	279	252	27	264	264	0	strelka-varscan-mutect	GAA,synonymous_variant,p.=,ENST00000302262,NM_000152.3;GAA,synonymous_variant,p.=,ENST00000390015,NM_001079803.1,NM_001079804.1;GAA,non_coding_transcript_exon_variant,,ENST00000573556,;GAA,downstream_gene_variant,,ENST00000572080,;GAA,downstream_gene_variant,,ENST00000572803,;GAA,downstream_gene_variant,,ENST00000570716,;	A	ENST00000302262	Transcript	synonymous_variant	2637/3626	2418/2859	806/952	T	acG/acA	rs371528938,COSM2803174	1		1	GAA	HGNC	HGNC:4065	protein_coding	YES	CCDS32760.1	ENSP00000305692	P10253		UPI00000744FF	NM_000152.3			17/20		hmmpanther:PTHR22762:SF92,hmmpanther:PTHR22762,Pfam_domain:PF01055,Superfamily_domains:SSF51011											0,1						LOW	1	SNV	1		0,1	1										PASS		rs371528938	.												A	2	1	23	80117686	80117686	G	A	1	0	0	0	0	0	0	0	1	6018	1074	38	1		1	GAA	17	80117686	Silent	SNP	G	C3L-01330_TP	35859080	80117686	3139755	46	7584											
LAMA1	0	.	GRCh38	chr18	7049079	7049079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccgtcccatactcacgCgtctggtaacaataggatcc	10	9	8	14	3	2	0	1	0	1	0	4	1	4	1	3	2	3	1	3	2	4	3	rs748576952		C3L-01330_TP	C3L-01330_NB	C	C																c.767G>A	p.Arg256His	p.R256H	ENST00000389658	5/63	328	288	40	278	278	0	strelka-varscan-mutect	LAMA1,missense_variant,p.Arg256His,ENST00000389658,NM_005559.3;LAMA1,splice_region_variant,,ENST00000579014,;	T	ENST00000389658	Transcript	missense_variant,splice_region_variant	861/9657	767/9228	256/3075	R/H	cGc/cAc	rs748576952,COSM3146046	1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	deleterious(0)		5/63		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299,SMART_domains:SM00136											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs748576952	.												T	3	4	23	7049079	7049079	C	T	1	0	0	0	0	1	0	0	0	8509	782	27	1		1	LAMA1	18	7049079	Missense_Mutation	SNP	C	C3L-01330_TP		7049079	73324206	47	7585											
ANKRD30B	0	.	GRCh38	chr18	14752980	14752980	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatggtggcaacactgctgTcctatggtgcagtcatcgag	9	11	12	9	1	1	0	1	0	0	0	3	1	2	0	1	3	3	3	1	3	3	2	novel		C3L-01330_TP	C3L-01330_NB	T	T																c.478T>G	p.Ser160Ala	p.S160A	ENST00000358984	3/36	107	97	10	103	103	0	strelka-mutect	ANKRD30B,missense_variant,p.Ser160Ala,ENST00000358984,NM_001145029.1;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,missense_variant,p.Ser160Ala,ENST00000580206,;	G	ENST00000358984	Transcript	missense_variant	658/4359	478/4179	160/1392	S/A	Tcc/Gcc		1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1	tolerated(0.29)		3/36		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	23	14752980	14752980	T	G	1	0	0	0	0	1	0	0	0	762	1667	58	5		5	ANKRD30B	18	14752980	Missense_Mutation	SNP	T	C3L-01330_TP	7703901	14752980	65620305	48	7586											
ARHGAP45	0	.	GRCh38	chr19	1074383	1074385	+	In_Frame_Del	DEL	CTG	CTG	-																															ctgcagaagatcgctcacaaCtgcagacagagcgtcatgca																								novel		C3L-01330_TP	C3L-01330_NB	CTG	CTG																c.1018_1020delTGC	p.Cys340del	p.C340del	ENST00000539243	8/23	33	25	8	45	45	0	sindel-varindel	ARHGAP45,inframe_deletion,p.Cys324del,ENST00000313093,NM_012292.4;ARHGAP45,inframe_deletion,p.Cys351del,ENST00000590214,;ARHGAP45,inframe_deletion,p.Cys340del,ENST00000539243,NM_001258328.2;ARHGAP45,inframe_deletion,p.Cys328del,ENST00000586866,;ARHGAP45,inframe_deletion,p.Cys207del,ENST00000543365,NM_001282335.1;ARHGAP45,upstream_gene_variant,,ENST00000590577,NM_001282334.1;ARHGAP45,downstream_gene_variant,,ENST00000587186,;ARHGAP45,downstream_gene_variant,,ENST00000592335,;ARHGAP45,3_prime_UTR_variant,,ENST00000587602,;ARHGAP45,non_coding_transcript_exon_variant,,ENST00000586033,;ARHGAP45,intron_variant,,ENST00000591293,;	-	ENST00000539243	Transcript	inframe_deletion	1120-1122/4184	1017-1019/3459	339-340/1152	NC/N	aaCTGc/aac		1		1	ARHGAP45	HGNC	HGNC:17102	protein_coding	YES	CCDS58637.1	ENSP00000439601	Q92619		UPI0001AE63E1	NM_001258328.2			8/23		PROSITE_profiles:PS51741,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF18,SMART_domains:SM00055,Superfamily_domains:SSF103657																	MODERATE	1	deletion	2	1		1										PASS		.	.												-	7	5	23	1074383	1074383	CTG	-	1	0	1	0	1	0	0	0	0	1015	564	20	0		0	ARHGAP45	19	1074383	In_Frame_Del	DEL	CTG	C3L-01330_TP		1074383	57543233	49	7587											
DMKN	0	.	GRCh38	chr19	35511484	35511484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaccactgctgccgccaCtgctgccgccactgctgctg	4	8	10	19	2	0	0	0	0	0	0	0	0	0	0	6	0	7	4	6	0	0	0	rs117522133		C3L-01330_TP	C3L-01330_NB	C	C																c.845G>A	p.Ser282Asn	p.S282N	ENST00000339686	5/16	132	121	11	256	253	3	strelka-varscan-mutect	DMKN,missense_variant,p.Ser282Asn,ENST00000339686,NM_033317.4;DMKN,missense_variant,p.Ser282Asn,ENST00000447113,NM_001190348.1;DMKN,missense_variant,p.Ser282Asn,ENST00000424570,NM_001126057.2;DMKN,missense_variant,p.Ser282Asn,ENST00000418261,NM_001126058.2;DMKN,missense_variant,p.Ser282Asn,ENST00000451297,NM_001190349.1;DMKN,intron_variant,,ENST00000419602,NM_001126056.2;DMKN,intron_variant,,ENST00000429837,NM_001190347.1;DMKN,upstream_gene_variant,,ENST00000402589,NM_001308380.1;DMKN,upstream_gene_variant,,ENST00000434389,;DMKN,upstream_gene_variant,,ENST00000414866,NM_001126059.2;DMKN,upstream_gene_variant,,ENST00000436012,NM_001308383.1;DMKN,upstream_gene_variant,,ENST00000443640,;DMKN,upstream_gene_variant,,ENST00000467637,;DMKN,upstream_gene_variant,,ENST00000602781,;DMKN,upstream_gene_variant,,ENST00000480502,;DMKN,upstream_gene_variant,,ENST00000492341,;DMKN,upstream_gene_variant,,ENST00000472252,;DMKN,upstream_gene_variant,,ENST00000474928,;DMKN,upstream_gene_variant,,ENST00000461300,;DMKN,upstream_gene_variant,,ENST00000602679,;DMKN,upstream_gene_variant,,ENST00000458071,;DMKN,upstream_gene_variant,,ENST00000392206,;DMKN,upstream_gene_variant,,ENST00000488892,;DMKN,upstream_gene_variant,,ENST00000450261,;DMKN,upstream_gene_variant,,ENST00000462126,;DMKN,upstream_gene_variant,,ENST00000476051,;DMKN,upstream_gene_variant,,ENST00000474992,;DMKN,upstream_gene_variant,,ENST00000489395,;DMKN,upstream_gene_variant,,ENST00000490622,;DMKN,upstream_gene_variant,,ENST00000488542,;DMKN,upstream_gene_variant,,ENST00000462721,;DMKN,upstream_gene_variant,,ENST00000465927,;DMKN,upstream_gene_variant,,ENST00000467532,;DMKN,upstream_gene_variant,,ENST00000482321,;DMKN,upstream_gene_variant,,ENST00000464709,;DMKN,upstream_gene_variant,,ENST00000464894,;DMKN,upstream_gene_variant,,ENST00000471786,;DMKN,upstream_gene_variant,,ENST00000476246,;DMKN,upstream_gene_variant,,ENST00000488762,;DMKN,upstream_gene_variant,,ENST00000498211,;DMKN,upstream_gene_variant,,ENST00000493979,;DMKN,upstream_gene_variant,,ENST00000463292,;DMKN,upstream_gene_variant,,ENST00000597212,;DMKN,upstream_gene_variant,,ENST00000460051,;DMKN,upstream_gene_variant,,ENST00000498593,;DMKN,upstream_gene_variant,,ENST00000483855,;DMKN,upstream_gene_variant,,ENST00000486450,;DMKN,upstream_gene_variant,,ENST00000462538,;DMKN,upstream_gene_variant,,ENST00000470857,;DMKN,upstream_gene_variant,,ENST00000493517,;DMKN,upstream_gene_variant,,ENST00000480507,;DMKN,upstream_gene_variant,,ENST00000472065,;DMKN,upstream_gene_variant,,ENST00000498269,;DMKN,upstream_gene_variant,,ENST00000470746,;DMKN,upstream_gene_variant,,ENST00000595571,;	T	ENST00000339686	Transcript	missense_variant	1022/1927	845/1431	282/476	S/N	aGt/aAt	rs117522133	1		-1	DMKN	HGNC	HGNC:25063	protein_coding	YES	CCDS12463.1	ENSP00000342012	Q6E0U4		UPI00002020EB	NM_033317.4	tolerated_low_confidence(0.67)		5/16		hmmpanther:PTHR36881,hmmpanther:PTHR36881:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs117522133	.												T	3	4	23	35511484	35511484	C	T	1	0	0	0	0	1	0	0	0	4389	565	20	3		3	DMKN	19	35511484	Missense_Mutation	SNP	C	C3L-01330_TP	34437101	35511484	23106132	50	7588											
PROCR	0	.	GRCh38	chr20	35176261	35176261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtggctgtgaatgggagctCctttgtgagtttccggccgg	5	12	16	8	2	0	2	0	2	0	0	2	3	2	3	3	4	1	3	3	4	1	2	novel		C3L-01330_TP	C3L-01330_NB	C	C																c.416C>T	p.Ser139Phe	p.S139F	ENST00000216968	3/4	458	401	57	464	464	0	strelka-varscan-mutect	PROCR,missense_variant,p.Ser139Phe,ENST00000216968,NM_006404.4;PROCR,missense_variant,p.Ser106Phe,ENST00000635377,;PROCR,upstream_gene_variant,,ENST00000634509,;RP11-42O4.2,upstream_gene_variant,,ENST00000615962,;	T	ENST00000216968	Transcript	missense_variant	498/1348	416/717	139/238	S/F	tCc/tTc		1		1	PROCR	HGNC	HGNC:9452	protein_coding	YES	CCDS13248.1	ENSP00000216968	Q9UNN8		UPI000012A08E	NM_006404.4	deleterious(0)		3/4		hmmpanther:PTHR15349,Gene3D:3.30.500.10,Pfam_domain:PF16497,Superfamily_domains:SSF54452																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	23	35176261	35176261	C	T	1	0	0	0	0	1	0	0	0	12681	855	30	3		3	PROCR	20	35176261	Missense_Mutation	SNP	C	C3L-01330_TP		35176261	29267906	51	7589											
PIN4	0	.	GRCh38	chrX	72262794	72262794	+	Nonstop_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catatttacaaaccacccctTaaagtggattattttgcaga	14	13	5	9	0	0	1	0	0	0	1	0	2	0	2	3	1	3	1	3	1	6	7	novel		C3L-01330_TP	C3L-01330_NB	T	T																c.400T>G	p.Ter134GluextTer15	p.*134Eext*15	ENST00000423432	4/4	80	54	26	101	101	0	strelka-mutect	PIN4,stop_lost,p.Ter134GluextTer15,ENST00000423432,NM_001170747.1;PIN4,stop_lost,p.Ter116GluextTer15,ENST00000496835,;RPS4X,intron_variant,,ENST00000470671,;RPS4X,intron_variant,,ENST00000492695,;PIN4,intron_variant,,ENST00000439980,;	G	ENST00000423432	Transcript	stop_lost	435/1605	400/402	134/133	*/E	Taa/Gaa		1		1	PIN4	HGNC	HGNC:8992	protein_coding		CCDS55447.1	ENSP00000409154	Q9Y237		UPI0001C0B3B6	NM_001170747.1			4/4																			HIGH	1	SNV	2			1										PASS		.	.												G	4	3	23	72262794	72262794	T	G	1	0	0	0	0	0	0	0	0	12026	1767	61	5		5	PIN4	23	72262794	Nonstop_Mutation	SNP	T	C3L-01330_TP		72262794	83778101	52	7590											
TENM1	0	.	GRCh38	chrX	124420527	124420527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcactgaattgccattgCtgctggtaatcgcgcccaag	8	11	11	11	2	0	1	0	1	0	0	1	1	0	1	2	1	4	4	2	1	3	3	novel		C3L-01330_TP	C3L-01330_NB	C	C																c.4766G>T	p.Ser1589Ile	p.S1589I	ENST00000422452	25/32	183	155	28	167	167	0	strelka-varscan-mutect	TENM1,missense_variant,p.Ser1589Ile,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,missense_variant,p.Ser1582Ile,ENST00000371130,NM_014253.3;STAG2,intron_variant,,ENST00000469481,;	A	ENST00000422452	Transcript	missense_variant	4830/12891	4766/8199	1589/2732	S/I	aGc/aTc		1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1	deleterious(0.01)		25/32		hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219,Gene3D:2.120.10.30,Superfamily_domains:SSF63829																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	23	124420527	124420527	C	A	1	0	0	0	0	1	0	0	0	16171	797	28	2		2	TENM1	23	124420527	Missense_Mutation	SNP	C	C3L-01330_TP	52157733	124420527	31620368	53	7591											
CXorf66	0	.	GRCh38	chrX	139956389	139956389	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatctgaactggctagcttaCacgcatagtctagcttacat	11	13	7	10	1	2	1	0	1	2	0	2	1	2	1	0	1	5	4	0	1	7	6	novel		C3L-01330_TP	C3L-01330_NB	C	C																c.593G>T	p.Cys198Phe	p.C198F	ENST00000370540	3/3	222	188	34	205	205	0	strelka-varscan-mutect	CXorf66,missense_variant,p.Cys198Phe,ENST00000370540,NM_001013403.2;	A	ENST00000370540	Transcript	missense_variant	617/1281	593/1086	198/361	C/F	tGt/tTt		1		-1	CXorf66	HGNC	HGNC:33743	protein_coding	YES	CCDS35411.1	ENSP00000359571	Q5JRM2		UPI00001D7C1C	NM_001013403.2	tolerated(0.7)		3/3		hmmpanther:PTHR37340,hmmpanther:PTHR37340:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	23	139956389	139956389	C	A	1	0	0	0	0	1	0	0	0	3920	478	17	2		2	CXorf66	23	139956389	Missense_Mutation	SNP	C	C3L-01330_TP	15535862	139956389	16084506	54	7592											
SLITRK2	0	.	GRCh38	chrX	145823415	145823415	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttggacccatcatggtgtaCcagaccaagtctcctgtgcc	8	11	9	13	0	2	1	1	0	1	1	3	2	2	2	5	2	2	1	5	2	2	2			C3L-01330_TP	C3L-01330_NB	C	C																c.990C>T	p.=	p.Y330Y	ENST00000370490	1/1	327	287	40	252	252	0	strelka-varscan-mutect	SLITRK2,synonymous_variant,p.=,ENST00000370490,NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2;SLITRK2,synonymous_variant,p.=,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,NM_004709.2;	T	ENST00000370490	Transcript	synonymous_variant	5245/7672	990/2538	330/845	Y	taC/taT	COSM5320754	1		1	SLITRK2	HGNC	HGNC:13449	protein_coding	YES	CCDS14680.1	ENSP00000359521	Q9H156		UPI000004E64B	NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2			1/1													1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	23	145823415	145823415	C	T	1	0	0	0	0	0	0	0	1	15034	518	18	3		3	SLITRK2	23	145823415	Silent	SNP	C	C3L-01330_TP	5867026	145823415	10217480	55	7593											
CAMTA1	0	.	GRCh38	chr1	7664193	7664193	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatggccaaagaagcgtactCctcctccgcggcggctgtgg	7	7	14	13	4	0	1	0	0	0	1	3	2	3	1	4	4	2	2	4	4	3	1	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.1646C>A	p.Ser549Tyr	p.S549Y	ENST00000303635	9/23	394	341	53	509	509	0	strelka-varscan-mutect	CAMTA1,missense_variant,p.Ser549Tyr,ENST00000303635,NM_015215.3;	A	ENST00000303635	Transcript	missense_variant	1853/8444	1646/5022	549/1673	S/Y	tCc/tAc		1		1	CAMTA1	HGNC	HGNC:18806	protein_coding	YES	CCDS30576.1	ENSP00000306522	Q9Y6Y1		UPI00001C1D72	NM_015215.3	tolerated_low_confidence(1)		9/23		Low_complexity_(Seg):seg,hmmpanther:PTHR23335:SF11,hmmpanther:PTHR23335																	MODERATE	1	SNV	1			1										PASS		rs1230605537	.												A	3	1	24	7664193	7664193	C	A	1	0	0	0	0	1	0	0	0	2306	855	30	2		2	CAMTA1	1	7664193	Missense_Mutation	SNP	C	C3L-01632_TP		7664193	241292229	1	7594											
NRDC	0	.	GRCh38	chr1	51814063	51814063	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaatgaaattcattatccTcaattttccgaatctcttca	12	16	4	9	1	4	1	3	1	1	0	7	2	6	1	2	1	0	1	2	1	5	6	novel		C3L-01632_TP	C3L-01632_NB	T	T																c.1850A>T	p.Glu617Val	p.E617V	ENST00000354831	16/33	83	72	11	131	131	0	strelka-varscan-mutect	NRDC,missense_variant,p.Glu617Val,ENST00000354831,NM_002525.2;NRDC,missense_variant,p.Glu549Val,ENST00000544028,;NRDC,missense_variant,p.Glu549Val,ENST00000352171,NM_001101662.1;NRDC,missense_variant,p.Glu485Val,ENST00000539524,NM_001242361.1;NRDC,missense_variant,p.Glu4Val,ENST00000440943,;NRDC,non_coding_transcript_exon_variant,,ENST00000485608,;NRDC,non_coding_transcript_exon_variant,,ENST00000483007,;NRDC,downstream_gene_variant,,ENST00000473805,;	A	ENST00000354831	Transcript	missense_variant	2040/3895	1850/3660	617/1219	E/V	gAg/gTg		1		-1	NRDC	HGNC	HGNC:7995	protein_coding	YES	CCDS559.1	ENSP00000346890		B1AKJ5	UPI0000458A53	NM_002525.2	deleterious(0)		16/33		Low_complexity_(Seg):seg,Gene3D:3.30.830.10,Superfamily_domains:SSF63411																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	51814063	51814063	T	A	1	0	0	0	0	1	0	0	0	10701	1551	54	4		4	NRDC	1	51814063	Missense_Mutation	SNP	T	C3L-01632_TP	44149870	51814063	197142359	2	7595											
FAM102B	0	.	GRCh38	chr1	108629647	108629647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacctttggcagtcatcatCttccaaataggtaagtagta	13	12	7	9	0	3	0	2	0	1	0	4	0	4	0	2	2	1	4	2	2	6	6	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.1030C>T	p.Leu344Phe	p.L344F	ENST00000370035	10/11	172	156	16	248	248	0	strelka-varscan-mutect	FAM102B,missense_variant,p.Leu344Phe,ENST00000370035,NM_001010883.2;FAM102B,missense_variant,p.Leu344Phe,ENST00000405454,;FAM102B,non_coding_transcript_exon_variant,,ENST00000483371,;	T	ENST00000370035	Transcript	missense_variant	1370/5600	1030/1083	344/360	L/F	Ctt/Ttt		1		1	FAM102B	HGNC	HGNC:27637	protein_coding	YES	CCDS30786.2	ENSP00000359052	Q5T8I3		UPI00001D7585	NM_001010883.2	deleterious(0.01)		10/11		hmmpanther:PTHR21456,hmmpanther:PTHR21456:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	24	108629647	108629647	C	T	1	0	0	0	0	1	0	0	0	5251	913	32	3		3	FAM102B	1	108629647	Missense_Mutation	SNP	C	C3L-01632_TP	56815584	108629647	140326775	3	7596											
TCHHL1	0	.	GRCh38	chr1	152086227	152086227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctttctgctgcaggtgcGtttttgctgttcacaaatgc	5	16	10	10	1	2	0	1	0	1	0	3	0	3	0	1	1	5	5	1	1	1	4	rs150195731		C3L-01632_TP	C3L-01632_NB	G	G																c.1455C>A	p.Asn485Lys	p.N485K	ENST00000368806	3/3	293	239	54	343	342	1	strelka-varscan-mutect	TCHHL1,missense_variant,p.Asn485Lys,ENST00000368806,NM_001008536.1;	T	ENST00000368806	Transcript	missense_variant	1520/3603	1455/2715	485/904	N/K	aaC/aaA	rs150195731,COSM3399701	1		-1	TCHHL1	HGNC	HGNC:31796	protein_coding	YES	CCDS30857.1	ENSP00000357796	Q5QJ38		UPI0000496834	NM_001008536.1	deleterious(0.01)		3/3		hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF65											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs150195731	.												T	3	4	24	152086227	152086227	G	T	1	0	0	0	0	1	0	0	0	16108	1136	40	1		1	TCHHL1	1	152086227	Missense_Mutation	SNP	G	C3L-01632_TP	43456580	152086227	96870195	4	7597											
SPTA1	0	.	GRCh38	chr1	158620257	158620257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaggcacacctaaggcCttaatctgctggtctagctc	9	10	10	12	0	2	0	0	0	2	0	3	1	2	1	2	4	2	3	2	4	4	3	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.6330G>T	p.Lys2110Asn	p.K2110N	ENST00000368147	44/52	269	182	87	316	314	2	strelka-varscan-mutect	SPTA1,missense_variant,p.Lys2110Asn,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000484520,;SPTA1,downstream_gene_variant,,ENST00000461624,;SPTA1,upstream_gene_variant,,ENST00000492934,;SPTA1,upstream_gene_variant,,ENST00000498708,;	A	ENST00000368147	Transcript	missense_variant	6511/7999	6330/7260	2110/2419	K/N	aaG/aaT		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0)		44/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	158620257	158620257	C	A	1	0	0	0	0	1	0	0	0	15472	680	24	2		2	SPTA1	1	158620257	Missense_Mutation	SNP	C	C3L-01632_TP	6534030	158620257	90336165	5	7598											
LAMC2	0	.	GRCh38	chr1	183227622	183227622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaagccatgtccctgtCataacgggttcagctgctca	8	10	10	13	1	3	0	3	0	0	0	4	0	4	0	2	1	5	5	2	1	2	2	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.1393C>A	p.His465Asn	p.H465N	ENST00000264144	10/23	265	177	88	367	367	0	strelka-varscan-mutect	LAMC2,missense_variant,p.His465Asn,ENST00000264144,NM_005562.2;LAMC2,missense_variant,p.His465Asn,ENST00000493293,NM_018891.2;	A	ENST00000264144	Transcript	missense_variant	1458/5147	1393/3582	465/1193	H/N	Cat/Aat		1		1	LAMC2	HGNC	HGNC:6493	protein_coding	YES	CCDS1352.1	ENSP00000264144	Q13753		UPI000013D4CA	NM_005562.2	tolerated(0.54)		10/23		PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF270,hmmpanther:PTHR10574,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		rs1195000634	.												A	3	1	24	183227622	183227622	C	A	1	0	0	0	0	1	0	0	0	8519	826	29	2		2	LAMC2	1	183227622	Missense_Mutation	SNP	C	C3L-01632_TP	24607365	183227622	65728800	6	7599											
IGFN1	0	.	GRCh38	chr1	201213462	201213462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggtgcctggaggagatgCtgaatgaagatcagagccgg	10	6	19	6	1	1	5	1	2	0	3	1	7	1	6	2	5	3	1	2	5	2	0	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.8569C>T	p.=	p.L2857L	ENST00000335211	12/24	333	289	44	486	486	0	strelka-varscan	IGFN1,synonymous_variant,p.=,ENST00000335211,NM_001164586.1;IGFN1,synonymous_variant,p.=,ENST00000412892,;IGFN1,intron_variant,,ENST00000295591,;IGFN1,non_coding_transcript_exon_variant,,ENST00000473483,;IGFN1,intron_variant,,ENST00000437879,;	T	ENST00000335211	Transcript	synonymous_variant	8699/11810	8569/11127	2857/3708	L	Ctg/Ttg		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1			12/24		hmmpanther:PTHR10489:SF630,hmmpanther:PTHR10489																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	24	201213462	201213462	C	T	1	0	0	0	0	0	0	0	1	7497	796	28	3		3	IGFN1	1	201213462	Silent	SNP	C	C3L-01632_TP	17985840	201213462	47742960	7	7600											
PKP1	0	.	GRCh38	chr1	201319838	201319838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagactgggcatgcgggagCttctggctcttgttccgcaa	7	10	14	10	2	2	1	0	0	2	1	3	3	3	2	1	3	2	5	1	3	1	3			C3L-01632_TP	C3L-01632_NB	C	C																c.1255C>A	p.Leu419Ile	p.L419I	ENST00000263946	7/15	425	369	56	519	519	0	strelka-varscan	PKP1,missense_variant,p.Leu419Ile,ENST00000263946,NM_000299.3;PKP1,missense_variant,p.Leu419Ile,ENST00000352845,;PKP1,intron_variant,,ENST00000367324,NM_001005337.2;PKP1,non_coding_transcript_exon_variant,,ENST00000475988,;	A	ENST00000263946	Transcript	missense_variant	1506/5447	1255/2244	419/747	L/I	Ctt/Att	COSM1659264	1		1	PKP1	HGNC	HGNC:9023	protein_coding	YES	CCDS30966.1	ENSP00000263946	Q13835		UPI0000131B86	NM_000299.3	tolerated_low_confidence(0.32)		7/15		Gene3D:1.25.10.10,Superfamily_domains:SSF48371											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	24	201319838	201319838	C	A	1	0	0	0	0	1	0	0	0	12080	797	28	2		2	PKP1	1	201319838	Missense_Mutation	SNP	C	C3L-01632_TP	106376	201319838	47636584	8	7601											
TATDN3	0	.	GRCh38	chr1	212807757	212807757	+	Frame_Shift_Del	DEL	A	A	-																															tgctgagaaggtactgctgcAtgcatttgatggtcggccat																								novel		C3L-01632_TP	C3L-01632_NB	A	A																c.509delA	p.His170LeufsTer9	p.H170Lfs*9	ENST00000532324	8/10	164	114	50	169	169	0	sindel-varindel	TATDN3,frameshift_variant,p.His170LeufsTer9,ENST00000366974,NM_001042552.2;TATDN3,frameshift_variant,p.His170LeufsTer9,ENST00000366973,NM_001042553.2;TATDN3,frameshift_variant,p.His170LeufsTer9,ENST00000532324,NM_001146171.1;TATDN3,frameshift_variant,p.His170LeufsTer9,ENST00000531963,NM_001146169.1;TATDN3,frameshift_variant,p.His149LeufsTer9,ENST00000526641,NM_001146170.1;TATDN3,intron_variant,,ENST00000527693,;TATDN3,intron_variant,,ENST00000526997,;TATDN3,downstream_gene_variant,,ENST00000530399,;TATDN3,downstream_gene_variant,,ENST00000488246,;TATDN3,downstream_gene_variant,,ENST00000530441,;TATDN3,non_coding_transcript_exon_variant,,ENST00000525569,;TATDN3,downstream_gene_variant,,ENST00000530392,;TATDN3,frameshift_variant,p.Met94CysfsTer3,ENST00000533650,;TATDN3,3_prime_UTR_variant,,ENST00000525574,;	-	ENST00000532324	Transcript	frameshift_variant	603/1381	509/846	170/281	H/X	cAt/ct		1		1	TATDN3	HGNC	HGNC:27010	protein_coding	YES	CCDS53475.1	ENSP00000431376	Q17R31		UPI0000205E43	NM_001146171.1			8/10		hmmpanther:PTHR10060,hmmpanther:PTHR10060:SF25,Gene3D:3.20.20.140,Pfam_domain:PF01026,PIRSF_domain:PIRSF005902,Superfamily_domains:SSF51556																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	24	212807757	212807757	A	-	1	0	1	0	1	0	0	0	0	15992	217	8	0		0	TATDN3	1	212807757	Frame_Shift_Del	DEL	A	C3L-01632_TP	11487919	212807757	36148665	9	7602											
USH2A	0	.	GRCh38	chr1	215647598	215647598	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccaccactctcagcttGtatgtggtgtagggctggag	6	12	14	9	0	1	0	1	0	1	0	2	1	1	1	2	3	2	4	2	3	2	3	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.14715C>A	p.Tyr4905Ter	p.Y4905*	ENST00000307340	67/72	478	414	64	599	599	0	strelka-varscan	USH2A,stop_gained,p.Tyr4905Ter,ENST00000307340,NM_206933.2;	T	ENST00000307340	Transcript	stop_gained	15102/18883	14715/15609	4905/5202	Y/*	taC/taA		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			67/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	24	215647598	215647598	G	T	1	0	0	0	0	0	1	0	0	17570	1372	48	2		2	USH2A	1	215647598	Nonsense_Mutation	SNP	G	C3L-01632_TP	2839841	215647598	33308824	10	7603											
ACBD3	0	.	GRCh38	chr1	226161638	226161638	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtttctcttcctccttttgCagacgttctctttcttcctc	2	20	4	15	2	3	1	0	0	3	1	9	1	6	1	3	0	1	3	3	0	0	7	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.621G>A	p.=	p.L207L	ENST00000366812	4/8	267	240	27	306	306	0	strelka-varscan	ACBD3,synonymous_variant,p.=,ENST00000366812,NM_022735.3;ACBD3,upstream_gene_variant,,ENST00000464927,;	T	ENST00000366812	Transcript	synonymous_variant	676/3573	621/1587	207/528	L	ctG/ctA		1		-1	ACBD3	HGNC	HGNC:15453	protein_coding	YES	CCDS1551.1	ENSP00000355777	Q9H3P7	A0A024R3P9	UPI000006F1E1	NM_022735.3			4/8		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22973,hmmpanther:PTHR22973:SF11,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	24	226161638	226161638	C	T	1	0	0	0	0	0	0	0	1	166	697	25	3		3	ACBD3	1	226161638	Silent	SNP	C	C3L-01632_TP	10514040	226161638	22794784	11	7604											
OBSCN	0	.	GRCh38	chr1	228318141	228318141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactgtggcctggctcaggGctccatctgccctgcggctg	3	9	13	16	1	2	0	1	0	1	0	3	0	3	0	4	4	2	3	4	4	0	0	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.16970G>T	p.Gly5657Val	p.G5657V	ENST00000570156	64/116	202	167	35	250	250	0	strelka-varscan	OBSCN,missense_variant,p.Gly5657Val,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Gly5657Val,ENST00000366707,;OBSCN,missense_variant,p.Gly4700Val,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Gly4700Val,ENST00000636875,;OBSCN,missense_variant,p.Gly4700Val,ENST00000284548,NM_052843.3;OBSCN,intron_variant,,ENST00000483539,;	T	ENST00000570156	Transcript	missense_variant	17044/26925	16970/26772	5657/8923	G/V	gGc/gTc		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	deleterious(0.01)		64/116		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF708,hmmpanther:PTHR10489,SMART_domains:SM00408,SMART_domains:SM00409																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	24	228318141	228318141	G	T	1	0	0	0	0	1	0	0	0	10889	1203	42	2		2	OBSCN	1	228318141	Missense_Mutation	SNP	G	C3L-01632_TP	2156503	228318141	20638281	12	7605											
DISC1	0	.	GRCh38	chr1	231818361	231818361	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacggctaaagacctcaccGaggagattagatcattaaca	15	7	10	9	2	2	3	2	0	0	3	2	6	2	4	2	3	1	1	2	3	4	3	rs150138912		C3L-01632_TP	C3L-01632_NB	G	G																c.1825G>T	p.Glu609Ter	p.E609*	ENST00000366633	9/10	355	306	49	392	391	1	strelka-varscan	DISC1,stop_gained,p.Glu609Ter,ENST00000439617,NM_001164537.1,NM_018662.2;DISC1,stop_gained,p.Glu609Ter,ENST00000366637,NM_001012957.1;DISC1,stop_gained,p.Glu487Ter,ENST00000620189,NM_001164540.1;DISC1,stop_gained,p.Glu609Ter,ENST00000602281,NM_001164542.1,NM_001164544.1;DISC1,stop_gained,p.Glu609Ter,ENST00000366633,NM_001164539.1;DISC1,stop_gained,p.Glu609Ter,ENST00000535983,NM_001164541.1,NM_001164538.1;DISC1,stop_gained,p.Glu609Ter,ENST00000366636,NM_001012959.1;DISC1,synonymous_variant,p.=,ENST00000539444,NM_001164545.1,NM_001164548.1;DISC1,3_prime_UTR_variant,,ENST00000622252,;DISC1,3_prime_UTR_variant,,ENST00000537876,;DISC1,3_prime_UTR_variant,,ENST00000602873,NM_001164556.1;DISC1,intron_variant,,ENST00000628350,NM_001164546.1,NM_001164549.1,NM_001164547.1;DISC2,downstream_gene_variant,,ENST00000612827,;DISC1,upstream_gene_variant,,ENST00000427560,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602567,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;DISC1,3_prime_UTR_variant,,ENST00000535944,;DISC1,3_prime_UTR_variant,,ENST00000422590,;DISC1,3_prime_UTR_variant,,ENST00000295051,;DISC1,3_prime_UTR_variant,,ENST00000602822,;DISC1,3_prime_UTR_variant,,ENST00000602713,;DISC1,3_prime_UTR_variant,,ENST00000602700,;DISC1,3_prime_UTR_variant,,ENST00000366632,;	T	ENST00000366633	Transcript	stop_gained	1878/2676	1825/2268	609/755	E/*	Gag/Tag	rs150138912	1		1	DISC1	HGNC	HGNC:2888	protein_coding	YES	CCDS53482.1	ENSP00000355593	Q9NRI5		UPI0001A61692	NM_001164539.1			9/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14332,hmmpanther:PTHR14332:SF4																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	24	231818361	231818361	G	T	1	0	0	0	0	0	1	0	0	4344	1059	37	1		1	DISC1	1	231818361	Nonsense_Mutation	SNP	G	C3L-01632_TP	3500220	231818361	17138061	13	7606											
ACTN2	0	.	GRCh38	chr1	236744741	236744741	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagcgcaccaggaccgCgtggagcagatcgcagccat	9	4	14	14	4	0	1	0	0	0	1	1	3	0	3	3	3	3	4	3	3	0	0	rs114008185		C3L-01632_TP	C3L-01632_NB	C	C																c.1371C>T	p.=	p.R457R	ENST00000542672	12/21	275	256	19	397	397	0	strelka-varscan	ACTN2,synonymous_variant,p.=,ENST00000546208,NM_001278344.1;ACTN2,synonymous_variant,p.=,ENST00000542672,NM_001278343.1;ACTN2,synonymous_variant,p.=,ENST00000366578,NM_001103.3;ACTN2,non_coding_transcript_exon_variant,,ENST00000492634,;ACTN2,downstream_gene_variant,,ENST00000494762,;ACTN2,upstream_gene_variant,,ENST00000492101,;	T	ENST00000542672	Transcript	synonymous_variant	1591/4906	1371/2685	457/894	R	cgC/cgT	rs114008185,COSM1748245	1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1			12/21		Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,SMART_domains:SM00150,Superfamily_domains:SSF46966										benign	0,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	24	236744741	236744741	C	T	1	0	0	0	0	0	0	0	1	249	755	27	1		1	ACTN2	1	236744741	Silent	SNP	C	C3L-01632_TP	4926380	236744741	12211681	14	7607											
RYR2	0	.	GRCh38	chr1	237602091	237602091	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagtcccaatgttttccagTttgagttgggaagaataaag	13	12	10	6	0	0	2	0	1	0	1	2	3	2	3	2	1	0	3	2	1	6	5	novel		C3L-01632_TP	C3L-01632_NB	T	T																c.4663T>C	p.Phe1555Leu	p.F1555L	ENST00000366574	35/105	216	188	28	228	228	0	strelka-varscan	RYR2,missense_variant,p.Phe1555Leu,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Phe1539Leu,ENST00000360064,;	C	ENST00000366574	Transcript	missense_variant	4980/16562	4663/14904	1555/4967	F/L	Ttt/Ctt		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0.05)		35/105		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,SMART_domains:SM00449																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	24	237602091	237602091	T	C	1	0	0	0	0	1	0	0	0	14029	1725	60	5		5	RYR2	1	237602091	Missense_Mutation	SNP	T	C3L-01632_TP	857350	237602091	11354331	15	7608											
ADSS	0	.	GRCh38	chr1	244437721	244437721	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtaagagatgaaaatcAtattccacagaatccacaac	17	8	7	9	0	1	3	1	1	0	2	3	4	3	3	2	1	1	1	2	1	6	3	novel		C3L-01632_TP	C3L-01632_NB	A	A																c.231T>A	p.Tyr77Ter	p.Y77*	ENST00000366535	2/13	287	246	41	297	297	0	strelka-varscan	ADSS,stop_gained,p.Tyr77Ter,ENST00000366535,NM_001126.3;	T	ENST00000366535	Transcript	stop_gained	548/2780	231/1371	77/456	Y/*	taT/taA		1		-1	ADSS	HGNC	HGNC:292	protein_coding	YES	CCDS1624.1	ENSP00000355493	P30520	A0A024R5Q7	UPI0000132AF5	NM_001126.3			2/13		HAMAP:MF_00011,HAMAP:MF_03127,hmmpanther:PTHR11846:SF1,hmmpanther:PTHR11846,Pfam_domain:PF00709,TIGRFAM_domain:TIGR00184,Gene3D:2v40A01,SMART_domains:SM00788,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	24	244437721	244437721	A	T	1	0	0	0	0	0	1	0	0	421	224	8	4		4	ADSS	1	244437721	Nonsense_Mutation	SNP	A	C3L-01632_TP	6835630	244437721	4518701	16	7609											
SMYD3	0	.	GRCh38	chr1	246330530	246330530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctctgattctgaaggtgctCcatccatctgtgaaggaaaa	11	12	9	9	0	3	3	0	3	3	0	6	4	5	4	2	2	1	1	2	2	4	1			C3L-01632_TP	C3L-01632_NB	C	C																c.344G>C	p.Gly115Ala	p.G115A	ENST00000490107	4/12	128	114	14	156	156	0	strelka-varscan	SMYD3,missense_variant,p.Gly115Ala,ENST00000490107,NM_001167740.1;SMYD3,missense_variant,p.Gly56Ala,ENST00000630181,NM_022743.2;SMYD3,missense_variant,p.Gly115Ala,ENST00000403792,;SMYD3,missense_variant,p.Gly56Ala,ENST00000455277,;SMYD3,missense_variant,p.Gly56Ala,ENST00000453676,;SMYD3,non_coding_transcript_exon_variant,,ENST00000470863,;SMYD3,non_coding_transcript_exon_variant,,ENST00000462422,;	G	ENST00000490107	Transcript	missense_variant	384/1548	344/1287	115/428	G/A	gGa/gCa	COSM277402	1		-1	SMYD3	HGNC	HGNC:15513	protein_coding	YES	CCDS53486.1	ENSP00000419184	Q9H7B4		UPI000022AFDA	NM_001167740.1	tolerated(0.47)		4/12		Pfam_domain:PF00856,PROSITE_profiles:PS50280,PROSITE_profiles:PS51574,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF163,SMART_domains:SM00317,Superfamily_domains:SSF82199											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	24	246330530	246330530	C	G	1	0	0	0	0	1	0	0	0	15144	855	30	4		4	SMYD3	1	246330530	Missense_Mutation	SNP	C	C3L-01632_TP	1892809	246330530	2625892	17	7610											
NLRP3	0	.	GRCh38	chr1	247424954	247424954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtgtctgctttcctgaGgatgaacctgttccaaaagg	9	12	12	8	0	1	2	0	2	1	0	3	4	3	4	3	3	2	2	3	3	3	2	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1511G>T	p.Arg504Met	p.R504M	ENST00000336119	3/9	268	161	107	413	412	1	strelka-varscan	NLRP3,missense_variant,p.Arg504Met,ENST00000366497,NM_001127461.2;NLRP3,missense_variant,p.Arg504Met,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,missense_variant,p.Arg504Met,ENST00000366496,;NLRP3,missense_variant,p.Arg504Met,ENST00000391828,NM_001079821.2;NLRP3,missense_variant,p.Arg504Met,ENST00000348069,NM_183395.2;NLRP3,missense_variant,p.Arg504Met,ENST00000391827,NM_001127462.2;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	T	ENST00000336119	Transcript	missense_variant	2257/4170	1511/3111	504/1036	R/M	aGg/aTg		1		1	NLRP3	HGNC	HGNC:16400	protein_coding	YES	CCDS1632.1	ENSP00000337383	Q96P20		UPI00001CE3AD	NM_004895.4,NM_001243133.1	deleterious(0)		3/9		PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	24	247424954	247424954	G	T	1	0	0	0	0	1	0	0	0	10516	1000	35	2		2	NLRP3	1	247424954	Missense_Mutation	SNP	G	C3L-01632_TP	1094424	247424954	1531468	18	7611											
OR11L1	0	.	GRCh38	chr1	247841880	247841880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaagttagtcacagtggagGtattttggggctccattgcc	9	12	13	7	0	1	0	1	0	0	0	2	2	2	1	2	4	1	3	2	4	3	5			C3L-01632_TP	C3L-01632_NB	G	G																c.17C>G	p.Thr6Ser	p.T6S	ENST00000355784	1/1	94	61	33	114	114	0	strelka-varscan	OR11L1,missense_variant,p.Thr6Ser,ENST00000355784,NM_001001959.1;	C	ENST00000355784	Transcript	missense_variant	17/969	17/969	6/322	T/S	aCc/aGc	COSM357935	1		-1	OR11L1	HGNC	HGNC:14998	protein_coding	YES	CCDS31098.1	ENSP00000348033	Q8NGX0		UPI0000061EBC	NM_001001959.1	tolerated(0.74)		1/1		hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF295,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												C	3	2	24	247841880	247841880	G	C	1	0	0	0	0	1	0	0	0	11007	1261	44	4		4	OR11L1	1	247841880	Missense_Mutation	SNP	G	C3L-01632_TP	416926	247841880	1114542	19	7612											
OR2L2	0	.	GRCh38	chr1	248039055	248039055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacctatgtacgtccaagatCcctgcgatctccaacagagg	11	9	8	13	2	1	2	0	0	1	2	4	3	3	2	4	1	4	1	4	1	5	3	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.788C>A	p.Ser263Tyr	p.S263Y	ENST00000366479	1/1	219	147	72	282	281	1	strelka-varscan	OR2L2,missense_variant,p.Ser263Tyr,ENST00000366479,NM_001004686.2;	A	ENST00000366479	Transcript	missense_variant	788/939	788/939	263/312	S/Y	tCc/tAc		1		1	OR2L2	HGNC	HGNC:8266	protein_coding	YES	CCDS31103.1	ENSP00000355435	Q8NH16	A0A126GW34	UPI0000061EAA	NM_001004686.2	deleterious(0.02)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF189,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	24	248039055	248039055	C	A	1	0	0	0	0	1	0	0	0	11085	855	30	2		2	OR2L2	1	248039055	Missense_Mutation	SNP	C	C3L-01632_TP	197175	248039055	917367	20	7613											
OR14C36	0	.	GRCh38	chr1	248348883	248348883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgttgtatttggtaactCtaatgggaaacatcctcatt	11	17	7	6	0	2	0	1	0	1	0	3	1	3	1	1	2	2	3	1	2	5	7			C3L-01632_TP	C3L-01632_NB	C	C																c.109C>A	p.Leu37Ile	p.L37I	ENST00000317861	1/1	204	169	35	282	281	1	strelka-varscan	OR14C36,missense_variant,p.Leu37Ile,ENST00000317861,NM_001001918.1;	A	ENST00000317861	Transcript	missense_variant	109/939	109/939	37/312	L/I	Cta/Ata	COSM3487131	1		1	OR14C36	HGNC	HGNC:15026	protein_coding	YES	CCDS31112.1	ENSP00000324534	Q8NHC7		UPI0000041CB1	NM_001001918.1	tolerated(0.06)		1/1		hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF180,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	24	248348883	248348883	C	A	1	0	0	0	0	1	0	0	0	11023	912	32	2		2	OR14C36	1	248348883	Missense_Mutation	SNP	C	C3L-01632_TP	309828	248348883	607539	21	7614											
ZNF692	0	.	GRCh38	chr1	248857278	248857278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggaacaccaacttctcCgagtagtatgtggaagggag	11	8	12	10	2	1	0	0	0	1	0	3	4	1	3	3	3	2	2	3	3	5	3	rs758599570		C3L-01632_TP	C3L-01632_NB	C	C																c.446G>T	p.Arg149Leu	p.R149L	ENST00000451251	4/12	207	182	25	303	303	0	strelka-varscan	ZNF692,missense_variant,p.Arg149Leu,ENST00000451251,NM_001136036.2;ZNF692,missense_variant,p.Arg144Leu,ENST00000306601,NM_017865.3;ZNF692,missense_variant,p.Arg144Leu,ENST00000366471,NM_001193328.1;ZNF692,upstream_gene_variant,,ENST00000476503,;ZNF692,downstream_gene_variant,,ENST00000496231,;AL672294.1,upstream_gene_variant,,ENST00000417047,;ZNF692,non_coding_transcript_exon_variant,,ENST00000468455,;ZNF692,downstream_gene_variant,,ENST00000533614,;ZNF692,downstream_gene_variant,,ENST00000495731,;ZNF692,missense_variant,p.Arg74Leu,ENST00000477070,;ZNF692,3_prime_UTR_variant,,ENST00000463519,;ZNF692,3_prime_UTR_variant,,ENST00000412341,;ZNF692,3_prime_UTR_variant,,ENST00000496411,;ZNF692,3_prime_UTR_variant,,ENST00000483223,;ZNF692,3_prime_UTR_variant,,ENST00000533647,;ZNF692,non_coding_transcript_exon_variant,,ENST00000533927,;ZNF692,non_coding_transcript_exon_variant,,ENST00000470787,;ZNF692,non_coding_transcript_exon_variant,,ENST00000478107,;ZNF692,non_coding_transcript_exon_variant,,ENST00000491971,;ZNF692,downstream_gene_variant,,ENST00000497847,;ZNF692,downstream_gene_variant,,ENST00000530699,;ZNF692,upstream_gene_variant,,ENST00000474351,;ZNF692,upstream_gene_variant,,ENST00000482023,;ZNF692,upstream_gene_variant,,ENST00000462037,;ZNF692,downstream_gene_variant,,ENST00000496053,;ZNF692,downstream_gene_variant,,ENST00000483791,;ZNF692,downstream_gene_variant,,ENST00000530986,;ZNF692,downstream_gene_variant,,ENST00000534456,;ZNF692,downstream_gene_variant,,ENST00000528141,;ZNF692,downstream_gene_variant,,ENST00000534660,;ZNF692,downstream_gene_variant,,ENST00000533976,;	A	ENST00000451251	Transcript	missense_variant	792/2065	446/1575	149/524	R/L	cGg/cTg	rs758599570,COSM4816971	1		-1	ZNF692	HGNC	HGNC:26049	protein_coding	YES	CCDS44348.1	ENSP00000391200	Q9BU19		UPI00017A804A	NM_001136036.2	tolerated(0.25)		4/12													0,1						MODERATE	1	SNV	2		0,1	1										PASS		.	.												A	3	1	24	248857278	248857278	C	A	1	0	0	0	0	1	0	0	0	18670	652	23	1		1	ZNF692	1	248857278	Missense_Mutation	SNP	C	C3L-01632_TP	508395	248857278	99144	22	7615											
NBAS	0	.	GRCh38	chr2	15558593	15558593	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttacctcgaattgctttCgtgatgataaaggatgcacc	11	14	8	8	2	0	2	0	2	0	0	2	4	0	3	2	1	3	2	2	1	5	6			C3L-01632_TP	C3L-01632_NB	C	C																c.159G>T	p.=	p.T53T	ENST00000281513	2/52	190	164	26	310	310	0	strelka-varscan-mutect	NBAS,synonymous_variant,p.=,ENST00000281513,NM_015909.3;	A	ENST00000281513	Transcript	synonymous_variant	185/7281	159/7116	53/2371	T	acG/acT	COSM235019	1		-1	NBAS	HGNC	HGNC:15625	protein_coding	YES	CCDS1685.1	ENSP00000281513	A2RRP1		UPI00001AEA68	NM_015909.3			2/52		hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	24	15558593	15558593	C	A	1	0	0	0	0	0	0	0	1	10197	871	31	1		1	NBAS	2	15558593	Silent	SNP	C	C3L-01632_TP		15558593	226634936	23	7616											
LTBP1	0	.	GRCh38	chr2	32948922	32948922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggctggagtaaggcccCtggctcccagaggtgcacca	8	7	13	13	0	1	1	1	0	0	1	2	2	2	2	4	5	1	4	4	5	1	1	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.542C>A	p.Pro181His	p.P181H	ENST00000404816	2/34	250	200	50	360	359	1	strelka-varscan	LTBP1,missense_variant,p.Pro181His,ENST00000404816,NM_206943.2;Y_RNA,upstream_gene_variant,,ENST00000384224,;	A	ENST00000404816	Transcript	missense_variant	895/6333	542/5166	181/1721	P/H	cCt/cAt		1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2	deleterious(0)		2/34		hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF39																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	24	32948922	32948922	C	A	1	0	0	0	0	1	0	0	0	8979	681	24	2		2	LTBP1	2	32948922	Missense_Mutation	SNP	C	C3L-01632_TP	17390329	32948922	209244607	24	7617											
PLEKHH2	0	.	GRCh38	chr2	43678902	43678902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttattgatgctgaacgtCaagcagaaaaagcttttcaa	16	11	8	6	1	2	3	2	2	0	1	2	3	2	3	0	0	4	4	0	0	7	4	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.163C>A	p.Gln55Lys	p.Q55K	ENST00000282406	3/30	60	50	10	111	111	0	strelka-varscan-mutect	PLEKHH2,missense_variant,p.Gln55Lys,ENST00000282406,NM_172069.3;C1GALT1C1L,upstream_gene_variant,,ENST00000475092,NM_001101330.2;PLEKHH2,missense_variant,p.Gln55Lys,ENST00000491692,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405223,;AC011242.5,downstream_gene_variant,,ENST00000433596,;	A	ENST00000282406	Transcript	missense_variant	273/6981	163/4482	55/1493	Q/K	Caa/Aaa		1		1	PLEKHH2	HGNC	HGNC:30506	protein_coding	YES	CCDS1812.1	ENSP00000282406	Q8IVE3		UPI000016021B	NM_172069.3	tolerated(0.06)		3/30		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	43678902	43678902	C	A	1	0	0	0	0	1	0	0	0	12170	827	29	2		2	PLEKHH2	2	43678902	Missense_Mutation	SNP	C	C3L-01632_TP	10729980	43678902	198514627	25	7618											
KIAA1841	0	.	GRCh38	chr2	61117369	61117369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttagtcagcttctagaGatgtgtctcctttcgtgtga	6	19	9	7	1	3	2	1	1	2	1	5	3	3	2	1	0	1	1	1	0	2	6	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1849G>A	p.Asp617Asn	p.D617N	ENST00000402291	18/22	277	232	45	405	405	0	strelka-varscan-mutect	KIAA1841,missense_variant,p.Asp617Asn,ENST00000402291,NM_001129993.1;KIAA1841,missense_variant,p.Asp617Asn,ENST00000453873,;KIAA1841,missense_variant,p.Asp471Asn,ENST00000612149,;KIAA1841,missense_variant,p.Asp617Asn,ENST00000295031,NM_032506.2;KIAA1841,missense_variant,p.Asp617Asn,ENST00000356719,;RP11-493E12.3,non_coding_transcript_exon_variant,,ENST00000462959,;KIAA1841,non_coding_transcript_exon_variant,,ENST00000488322,;KIAA1841,3_prime_UTR_variant,,ENST00000453186,;KIAA1841,non_coding_transcript_exon_variant,,ENST00000471625,;	A	ENST00000402291	Transcript	missense_variant	2090/4516	1849/2157	617/718	D/N	Gat/Aat		1		1	KIAA1841	HGNC	HGNC:29387	protein_coding	YES	CCDS46296.1	ENSP00000385579	Q6NSI8		UPI0000197410	NM_001129993.1	tolerated(0.17)		18/22		hmmpanther:PTHR20946:SF0,hmmpanther:PTHR20946																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	61117369	61117369	G	A	1	0	0	0	0	1	0	0	0	8129	942	33	3		3	KIAA1841	2	61117369	Missense_Mutation	SNP	G	C3L-01632_TP	17438467	61117369	181076160	26	7619											
THSD7B	0	.	GRCh38	chr2	137056471	137056471	+	Missense_Mutation	SNP	G	G	T																															tcccggaggagtccagagtcGggcagtgtggtgttttcatg																								novel		C3L-01632_TP	C3L-01632_NB	G	G																c.191G>T	p.Arg64Leu	p.R64L	ENST00000272643	2/27	122	104	18	221	221	0	strelka-varscan-mutect	THSD7B,missense_variant,p.Arg64Leu,ENST00000409968,NM_001316349.1;THSD7B,missense_variant,p.Arg64Leu,ENST00000272643,;THSD7B,missense_variant,p.Arg33Leu,ENST00000413152,NM_001080427.1;THSD7B,3_prime_UTR_variant,,ENST00000472720,;	T	ENST00000272643	Transcript	missense_variant	191/5939	191/4827	64/1608	R/L	cGg/cTg		1		1	THSD7B	HGNC	HGNC:29348	protein_coding	YES		ENSP00000272643	Q9C0I4		UPI0004E4C87A		deleterious(0)		2/27		PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7,SMART_domains:SM00209																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	24	137056471	137056471	G	T	1	0	0	0	0	1	0	0	0	16314	1116	39	1		1	THSD7B	2	137056471	Missense_Mutation	SNP	G	C3L-01632_TP	75939102	137056471	105137058	27	7620	173	2									
THSD7B	0	.	GRCh38	chr2	137056472	137056472	+	Silent	SNP	G	G	T																															cccggaggagtccagagtcgGgcagtgtggtgttttcatgt																								novel		C3L-01632_TP	C3L-01632_NB	G	G																c.192G>T	p.=	p.R64R	ENST00000272643	2/27	127	106	21	225	225	0	strelka-varscan-mutect	THSD7B,synonymous_variant,p.=,ENST00000409968,NM_001316349.1;THSD7B,synonymous_variant,p.=,ENST00000272643,;THSD7B,synonymous_variant,p.=,ENST00000413152,NM_001080427.1;THSD7B,3_prime_UTR_variant,,ENST00000472720,;	T	ENST00000272643	Transcript	synonymous_variant	192/5939	192/4827	64/1608	R	cgG/cgT		1		1	THSD7B	HGNC	HGNC:29348	protein_coding	YES		ENSP00000272643	Q9C0I4		UPI0004E4C87A				2/27		PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7,SMART_domains:SM00209																	LOW	1	SNV	5			1										PASS		rs1337381075	.												T	2	4	24	137056472	137056472	G	T	1	0	0	0	0	0	0	0	1	16314	1219	43	2		2	THSD7B	2	137056472	Silent	SNP	G	C3L-01632_TP	1	137056472	105137057	28	7621	173	2									
LRP2	0	.	GRCh38	chr2	169318877	169318877	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatagccctgctggcaggtCacaacagctaaaacaaacca	17	5	7	12	0	1	0	1	0	0	0	1	0	1	0	2	2	6	3	2	2	6	2	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.195G>T	p.=	p.V65V	ENST00000263816	3/79	466	386	80	602	600	2	strelka-varscan-mutect	LRP2,synonymous_variant,p.=,ENST00000263816,NM_004525.2;LRP2,synonymous_variant,p.=,ENST00000443831,;	A	ENST00000263816	Transcript	synonymous_variant	481/15808	195/13968	65/4655	V	gtG/gtT		1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2			3/79		Gene3D:4.10.400.10,Superfamily_domains:SSF57424																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	24	169318877	169318877	C	A	1	0	0	0	0	0	0	0	1	8851	813	29	2		2	LRP2	2	169318877	Silent	SNP	C	C3L-01632_TP	32262405	169318877	72874652	29	7622											
FAM171B	0	.	GRCh38	chr2	186762804	186762804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagcgagaggaacgccCactgattcccataaattaac	16	6	9	10	2	0	3	0	1	0	2	1	6	1	4	2	1	3	0	2	1	6	3	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.2462C>A	p.Pro821Gln	p.P821Q	ENST00000304698	8/8	55	47	8	117	117	0	strelka-varscan-mutect	FAM171B,missense_variant,p.Pro821Gln,ENST00000304698,NM_177454.3;	A	ENST00000304698	Transcript	missense_variant	2665/5826	2462/2481	821/826	P/Q	cCa/cAa		1		1	FAM171B	HGNC	HGNC:29412	protein_coding	YES	CCDS33347.1	ENSP00000304108	Q6P995		UPI0000161631	NM_177454.3	deleterious(0)		8/8		hmmpanther:PTHR31626:SF2,hmmpanther:PTHR31626,Pfam_domain:PF10577																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	186762804	186762804	C	A	1	0	0	0	0	1	0	0	0	5339	594	21	2		2	FAM171B	2	186762804	Missense_Mutation	SNP	C	C3L-01632_TP	17443927	186762804	55430725	30	7623											
HSPD1	0	.	GRCh38	chr2	197498777	197498777	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttacatctttggcataagcCcgagtgagatgaggagccag	11	10	12	8	1	1	2	0	2	1	1	1	5	1	3	2	2	3	1	2	2	2	4	rs201599915		C3L-01632_TP	C3L-01632_NB	C	C																c.72G>A	p.=	p.R24R	ENST00000388968	2/12	223	209	14	363	357	6	varscan-mutect	HSPD1,synonymous_variant,p.=,ENST00000388968,NM_002156.4;HSPD1,synonymous_variant,p.=,ENST00000345042,NM_199440.1;HSPD1,synonymous_variant,p.=,ENST00000452200,;HSPD1,synonymous_variant,p.=,ENST00000430176,;HSPD1,synonymous_variant,p.=,ENST00000439605,;HSPD1,synonymous_variant,p.=,ENST00000428204,;HSPD1,synonymous_variant,p.=,ENST00000418022,;HSPD1,synonymous_variant,p.=,ENST00000426480,;HSPE1,upstream_gene_variant,,ENST00000233893,NM_002157.2;HSPE1-MOB4,upstream_gene_variant,,ENST00000604458,NM_001202485.1;HSPE1,upstream_gene_variant,,ENST00000409468,;HSPE1,upstream_gene_variant,,ENST00000409729,;HSPE1,upstream_gene_variant,,ENST00000465573,;HSPD1,synonymous_variant,p.=,ENST00000440114,;HSPD1,non_coding_transcript_exon_variant,,ENST00000476746,;HSPD1,non_coding_transcript_exon_variant,,ENST00000461097,;HSPE1,upstream_gene_variant,,ENST00000463841,;HSPD1,upstream_gene_variant,,ENST00000486181,;HSPE1,upstream_gene_variant,,ENST00000473395,;HSPE1,upstream_gene_variant,,ENST00000495200,;HSPD1,upstream_gene_variant,,ENST00000482167,;	T	ENST00000388968	Transcript	synonymous_variant	340/2455	72/1722	24/573	R	cgG/cgA	rs201599915,COSM1179258,COSM3675540,COSM442074	1		-1	HSPD1	HGNC	HGNC:5261	protein_coding	YES	CCDS33357.1	ENSP00000373620	P10809	A0A024R3X4	UPI0000042366	NM_002156.4			2/12		Gene3D:1.10.560.10,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF64											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs78187001	.												T	2	4	24	197498777	197498777	C	T	1	0	0	0	0	0	0	0	1	7324	610	22	3		3	HSPD1	2	197498777	Silent	SNP	C	C3L-01632_TP	10735973	197498777	44694752	31	7624											
IQCA1	0	.	GRCh38	chr2	236419186	236419186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcctttcttttgttttttgGctttcttgggttgtttttcc	0	27	7	7	0	2	0	0	0	2	0	4	0	4	0	2	2	0	4	2	2	0	12	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1118C>A	p.Ala373Asp	p.A373D	ENST00000431676	8/19	146	115	31	239	237	2	strelka-varscan-mutect	IQCA1,missense_variant,p.Ala366Asp,ENST00000409907,NM_024726.4;IQCA1,missense_variant,p.Ala373Asp,ENST00000431676,NM_001270585.1;IQCA1,missense_variant,p.Ala385Asp,ENST00000418802,;IQCA1,intron_variant,,ENST00000309507,NM_001270584.1;IQCA1,non_coding_transcript_exon_variant,,ENST00000465621,;IQCA1,missense_variant,p.Ala366Asp,ENST00000254653,;	T	ENST00000431676	Transcript	missense_variant	1153/3069	1118/2493	373/830	A/D	gCc/gAc		1		-1	IQCA1	HGNC	HGNC:26195	protein_coding	YES	CCDS74677.1	ENSP00000407213		A0A0A0MSY6	UPI0001AE77A0	NM_001270585.1	tolerated(0.16)		8/19		hmmpanther:PTHR14690,hmmpanther:PTHR14690:SF8,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	24	236419186	236419186	G	T	1	0	0	0	0	1	0	0	0	7705	1203	42	2		2	IQCA1	2	236419186	Missense_Mutation	SNP	G	C3L-01632_TP	38920409	236419186	5774343	32	7625											
GAL3ST2	0	.	GRCh38	chr2	241803459	241803459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcccccgccttccggggcGccccgagcctggacgcgttc	3	5	13	20	7	0	0	0	0	0	0	2	2	1	1	7	3	1	1	7	3	0	2			C3L-01632_TP	C3L-01632_NB	G	G																c.490G>T	p.Ala164Ser	p.A164S	ENST00000192314	4/4	214	184	30	376	375	1	strelka-varscan-mutect	GAL3ST2,missense_variant,p.Ala164Ser,ENST00000192314,NM_022134.2;AC114730.3,downstream_gene_variant,,ENST00000413820,;AC114730.5,upstream_gene_variant,,ENST00000437438,;	T	ENST00000192314	Transcript	missense_variant	621/1370	490/1197	164/398	A/S	Gcc/Tcc	COSM1207821	1		1	GAL3ST2	HGNC	HGNC:24869	protein_coding	YES	CCDS33427.1	ENSP00000192314	Q9H3Q3		UPI000049DF44	NM_022134.2	tolerated(0.59)		4/4		hmmpanther:PTHR14647,hmmpanther:PTHR14647:SF55,Pfam_domain:PF06990,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		rs750473496	.												T	3	4	24	241803459	241803459	G	T	1	0	0	0	0	1	0	0	0	6066	1087	38	1		1	GAL3ST2	2	241803459	Missense_Mutation	SNP	G	C3L-01632_TP	5384273	241803459	390070	33	7626											
FANCD2	0	.	GRCh38	chr3	10094345	10094345	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtatgccgctcctagacttCagttttagaaaacaccgggt	10	12	9	10	2	1	2	1	0	0	2	2	2	2	2	3	1	2	3	3	1	5	5	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.3945C>G	p.Phe1315Leu	p.F1315L	ENST00000287647	40/43	416	383	33	611	611	0	strelka-varscan-mutect	FANCD2,missense_variant,p.Phe1315Leu,ENST00000287647,NM_033084.3;FANCD2,missense_variant,p.Phe1315Leu,ENST00000419585,NM_001319984.1;FANCD2,missense_variant,p.Phe1315Leu,ENST00000383807,NM_001018115.1;FANCD2OS,intron_variant,,ENST00000524279,NM_173472.1;FANCD2,intron_variant,,ENST00000470028,;FANCD2OS,intron_variant,,ENST00000436517,;FANCD2OS,intron_variant,,ENST00000431315,;FANCD2,3_prime_UTR_variant,,ENST00000421731,;	G	ENST00000287647	Transcript	missense_variant	4038/5219	3945/4416	1315/1471	F/L	ttC/ttG		1		1	FANCD2	HGNC	HGNC:3585	protein_coding	YES	CCDS2595.1	ENSP00000287647	Q9BXW9		UPI000006F678	NM_033084.3	tolerated(0.22)		40/43		hmmpanther:PTHR32086,Pfam_domain:PF14631																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	24	10094345	10094345	C	G	1	0	0	0	0	1	0	0	0	5524	825	29	4		4	FANCD2	3	10094345	Missense_Mutation	SNP	C	C3L-01632_TP		10094345	188201214	34	7627											
KCNH8	0	.	GRCh38	chr3	19533557	19533557	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttacagaccagaacgagcTggagtgcacaccagccttgc	11	6	11	13	1	0	2	0	0	0	2	0	4	0	3	3	1	6	3	3	1	2	2	novel		C3L-01632_TP	C3L-01632_NB	T	T																c.2782T>G	p.Trp928Gly	p.W928G	ENST00000328405	16/16	358	340	18	538	538	0	strelka-varscan-mutect	KCNH8,missense_variant,p.Trp928Gly,ENST00000328405,NM_144633.2;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	G	ENST00000328405	Transcript	missense_variant	3048/5137	2782/3324	928/1107	W/G	Tgg/Ggg		1		1	KCNH8	HGNC	HGNC:18864	protein_coding	YES	CCDS2632.1	ENSP00000328813	Q96L42		UPI0000167D12	NM_144633.2	tolerated_low_confidence(0.09)		16/16		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	24	19533557	19533557	T	G	1	0	0	0	0	1	0	0	0	7954	1580	55	5		5	KCNH8	3	19533557	Missense_Mutation	SNP	T	C3L-01632_TP	9439212	19533557	178762002	35	7628											
NEK10	0	.	GRCh38	chr3	27344326	27344326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatctcctgaaatagtttaCgctgaggatgtttgctgaaa	12	13	10	6	1	1	4	0	3	1	1	2	5	1	5	1	1	2	4	1	1	4	4	rs200401044		C3L-01632_TP	C3L-01632_NB	C	C																c.308G>T	p.Arg103Leu	p.R103L	ENST00000341435	6/25	170	146	24	258	258	0	strelka-varscan-mutect	NEK10,missense_variant,p.Arg103Leu,ENST00000429845,NM_152534.4;NEK10,missense_variant,p.Arg103Leu,ENST00000341435,NM_199347.3;NEK10,missense_variant,p.Arg103Leu,ENST00000435750,;NEK10,non_coding_transcript_exon_variant,,ENST00000491627,;	A	ENST00000341435	Transcript	missense_variant	582/2638	308/2139	103/712	R/L	cGt/cTt	rs200401044,COSM1043439,COSM1593597,COSM1593598	1		-1	NEK10	HGNC	HGNC:18592	protein_coding	YES	CCDS46781.1	ENSP00000343847	Q6ZWH5		UPI00001C089B	NM_199347.3	tolerated(0.07)		6/25													0,1,1,1						MODERATE	1	SNV	2		0,1,1,1	1										PASS		rs200401044	.												A	3	1	24	27344326	27344326	C	A	1	0	0	0	0	1	0	0	0	10350	536	19	1		1	NEK10	3	27344326	Missense_Mutation	SNP	C	C3L-01632_TP	7810769	27344326	170951233	36	7629											
DOCK3	0	.	GRCh38	chr3	51381545	51381545	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcctgggagcacggcCgaggggagcagtgaggggca	8	3	21	9	2	0	1	0	1	0	0	0	4	0	3	2	7	2	4	2	7	0	0	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.6079C>T	p.Arg2027Ter	p.R2027*	ENST00000266037	53/53	33	26	7	78	78	0	strelka-varscan-mutect	DOCK3,stop_gained,p.Arg2027Ter,ENST00000266037,NM_004947.4;MANF,upstream_gene_variant,,ENST00000528157,NM_006010.5;MANF,upstream_gene_variant,,ENST00000470900,;MANF,upstream_gene_variant,,ENST00000446668,;	T	ENST00000266037	Transcript	stop_gained	6102/8755	6079/6093	2027/2030	R/*	Cga/Tga		1		1	DOCK3	HGNC	HGNC:2989	protein_coding	YES	CCDS46835.1	ENSP00000266037	Q8IZD9		UPI000007412C	NM_004947.4			53/53																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	24	51381545	51381545	C	T	1	0	0	0	0	0	1	0	0	4503	644	23	1		1	DOCK3	3	51381545	Nonsense_Mutation	SNP	C	C3L-01632_TP	24037219	51381545	146914014	37	7630											
ALAS1	0	.	GRCh38	chr3	52202683	52202683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagtgtcttctgcaaaGccagtcttgagcttcaggag	9	10	12	10	0	4	1	1	1	3	0	4	2	4	2	1	1	4	4	1	1	1	3	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.376G>A	p.Ala126Thr	p.A126T	ENST00000394965	4/12	186	171	15	326	325	1	strelka-varscan-mutect	ALAS1,missense_variant,p.Ala126Thr,ENST00000394965,NM_000688.5,NM_001304444.1;ALAS1,missense_variant,p.Ala126Thr,ENST00000484952,;ALAS1,missense_variant,p.Ala126Thr,ENST00000310271,NM_001304443.1,NM_199166.2;ALAS1,missense_variant,p.Ala126Thr,ENST00000469224,;ALAS1,upstream_gene_variant,,ENST00000493402,;	A	ENST00000394965	Transcript	missense_variant	736/2430	376/1923	126/640	A/T	Gcc/Acc		1		1	ALAS1	HGNC	HGNC:396	protein_coding	YES	CCDS2847.1	ENSP00000378416	P13196	Q5JAM2	UPI0000001230	NM_000688.5,NM_001304444.1	deleterious(0.02)		4/12		hmmpanther:PTHR13693,hmmpanther:PTHR13693:SF50,Pfam_domain:PF09029																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	24	52202683	52202683	G	A	1	0	0	0	0	1	0	0	0	584	971	34	3		3	ALAS1	3	52202683	Missense_Mutation	SNP	G	C3L-01632_TP	821138	52202683	146092876	38	7631											
ASB14	0	.	GRCh38	chr3	57278573	57278573	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactctgcagaagtaattgAcattggccccatgccttagc	11	11	8	11	0	1	2	0	1	1	1	1	2	1	2	3	1	4	2	3	1	4	5	novel		C3L-01632_TP	C3L-01632_NB	A	A																c.1235T>A	p.Val412Asp	p.V412D	ENST00000487349	8/11	129	116	13	232	232	0	strelka-varscan-mutect	ASB14,missense_variant,p.Val412Asp,ENST00000487349,NM_001142733.2;ASB14,missense_variant,p.Val412Asp,ENST00000389601,;ASB14,non_coding_transcript_exon_variant,,ENST00000515033,;	T	ENST00000487349	Transcript	missense_variant	1356/3179	1235/1764	412/587	V/D	gTc/gAc		1		-1	ASB14	HGNC	HGNC:19766	protein_coding	YES	CCDS46856.2	ENSP00000419199	A6NK59		UPI0000E5A753	NM_001142733.2	deleterious(0)		8/11		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF0,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs1384769833	.												T	3	4	24	57278573	57278573	A	T	1	0	0	0	0	1	0	0	0	1160	275	10	4		4	ASB14	3	57278573	Missense_Mutation	SNP	A	C3L-01632_TP	5075890	57278573	141016986	39	7632											
PDZRN3	0	.	GRCh38	chr3	73404330	73404330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcaccactatgggctcCttggctgtcttgaaagcttc	7	12	9	13	0	1	1	0	1	1	0	3	1	2	1	3	2	2	4	3	2	2	4	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.984G>T	p.Lys328Asn	p.K328N	ENST00000263666	4/10	195	164	31	301	301	0	strelka-varscan-mutect	PDZRN3,missense_variant,p.Lys328Asn,ENST00000263666,NM_015009.2;PDZRN3,missense_variant,p.Lys45Asn,ENST00000479530,NM_001303142.1;PDZRN3,missense_variant,p.Lys26Asn,ENST00000492909,NM_001303139.1;PDZRN3,5_prime_UTR_variant,,ENST00000462146,NM_001303141.1;PDZRN3,5_prime_UTR_variant,,ENST00000466780,NM_001303140.1;PDZRN3,upstream_gene_variant,,ENST00000494559,;PDZRN3,downstream_gene_variant,,ENST00000308537,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000498048,;PDZRN3,upstream_gene_variant,,ENST00000466348,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000477434,;PDZRN3,upstream_gene_variant,,ENST00000484487,;	A	ENST00000263666	Transcript	missense_variant	1099/4248	984/3201	328/1066	K/N	aaG/aaT		1		-1	PDZRN3	HGNC	HGNC:17704	protein_coding	YES	CCDS33789.1	ENSP00000263666	Q9UPQ7		UPI00001C1DE6	NM_015009.2	deleterious(0)		4/10		PROSITE_profiles:PS50106,hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	73404330	73404330	C	A	1	0	0	0	0	1	0	0	0	11797	680	24	2		2	PDZRN3	3	73404330	Missense_Mutation	SNP	C	C3L-01632_TP	16125757	73404330	124891229	40	7633											
LNP1	0	.	GRCh38	chr3	100451752	100451752	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaattccatcatctgacTgccatcctagaaggcattct	11	11	6	13	0	3	3	1	1	2	2	5	3	5	3	4	1	1	1	4	1	3	3	rs75122231		C3L-01632_TP	C3L-01632_NB	T	T																c.190T>C	p.Cys64Arg	p.C64R	ENST00000383693	3/4	93	85	8	181	179	2	varscan-mutect	LNP1,missense_variant,p.Cys64Arg,ENST00000383693,NM_001085451.1;LNP1,missense_variant,p.Cys77Arg,ENST00000489752,;LNP1,3_prime_UTR_variant,,ENST00000466996,;	C	ENST00000383693	Transcript	missense_variant	1470/2210	190/537	64/178	C/R	Tgc/Cgc	rs75122231	1		1	LNP1	HGNC	HGNC:28014	protein_coding	YES	CCDS43120.1	ENSP00000373191	A1A4G5		UPI00001B64A6	NM_001085451.1	tolerated(0.35)		3/4		hmmpanther:PTHR35667:SF1,hmmpanther:PTHR35667,Pfam_domain:PF15419																	MODERATE	1	SNV	1			1										PASS		rs75122231	.												C	3	2	24	100451752	100451752	T	C	1	0	0	0	0	1	0	0	0	8790	1580	55	5		5	LNP1	3	100451752	Missense_Mutation	SNP	T	C3L-01632_TP	27047422	100451752	97843807	41	7634											
TP63	0	.	GRCh38	chr3	189868604	189868604	+	Frame_Shift_Del	DEL	C	C	-																															caagtcctgggccgacgctgCtttgaggcccggatctgtgc																								novel		C3L-01632_TP	C3L-01632_NB	C	C																c.1017delC	p.Phe340LeufsTer48	p.F340Lfs*48	ENST00000264731	8/14	301	247	54	533	533	0	sindel-varindel-pindel	TP63,frameshift_variant,p.Phe340LeufsTer48,ENST00000264731,NM_003722.4;TP63,frameshift_variant,p.Phe246LeufsTer48,ENST00000354600,NM_001114980.1;TP63,frameshift_variant,p.Phe340LeufsTer48,ENST00000418709,NM_001114979.1;TP63,frameshift_variant,p.Phe246LeufsTer48,ENST00000437221,NM_001114982.1;TP63,frameshift_variant,p.Phe340LeufsTer48,ENST00000320472,;TP63,frameshift_variant,p.Phe340LeufsTer44,ENST00000440651,;TP63,frameshift_variant,p.Phe246LeufsTer44,ENST00000456148,;TP63,frameshift_variant,p.Phe340LeufsTer48,ENST00000392460,NM_001114978.1;TP63,frameshift_variant,p.Phe161LeufsTer48,ENST00000449992,;TP63,frameshift_variant,p.Phe246LeufsTer48,ENST00000392463,NM_001114981.1;TP63,frameshift_variant,p.Phe246LeufsTer48,ENST00000392461,;TP63,downstream_gene_variant,,ENST00000434928,;TP63,non_coding_transcript_exon_variant,,ENST00000460036,;	-	ENST00000264731	Transcript	frameshift_variant	1106/4909	1017/2043	339/680	C/X	tgC/tg		1		1	TP63	HGNC	HGNC:15979	protein_coding	YES	CCDS3293.1	ENSP00000264731	Q9H3D4	A0A0S2Z4N5	UPI0000073CF2	NM_003722.4			8/14		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF8,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	24	189868604	189868604	C	-	1	0	1	0	1	0	0	0	0	16871	805	28	0		0	TP63	3	189868604	Frame_Shift_Del	DEL	C	C3L-01632_TP	89416852	189868604	8426955	42	7635											
MUC4	0	.	GRCh38	chr3	195782032	195782032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctagtgacaggaagaggcGtggtgtcacctgtggatact	9	9	16	7	1	1	2	1	1	0	1	1	4	1	4	1	5	1	1	1	5	3	2	rs778176783		C3L-01632_TP	C3L-01632_NB	G	G																c.9548C>T	p.Thr3183Met	p.T3183M	ENST00000463781	2/25	130	122	8	297	293	4	varscan-mutect	MUC4,missense_variant,p.Thr3183Met,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr3183Met,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr3183Met,ENST00000478156,;MUC4,missense_variant,p.Thr3183Met,ENST00000466475,;MUC4,missense_variant,p.Thr3183Met,ENST00000477756,;MUC4,missense_variant,p.Thr3183Met,ENST00000477086,;MUC4,missense_variant,p.Thr3183Met,ENST00000480843,;MUC4,missense_variant,p.Thr3183Met,ENST00000462323,;MUC4,missense_variant,p.Thr3183Met,ENST00000470451,;MUC4,missense_variant,p.Thr3183Met,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	A	ENST00000463781	Transcript	missense_variant	10008/17110	9548/16239	3183/5412	T/M	aCg/aTg	rs778176783	1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	deleterious_low_confidence(0.01)		2/25																			MODERATE	1	SNV	5			1										PASS		rs778176783	.												A	3	1	24	195782032	195782032	G	A	1	0	0	0	0	1	0	0	0	9977	1145	40	1		1	MUC4	3	195782032	Missense_Mutation	SNP	G	C3L-01632_TP	5913428	195782032	2513527	43	7636											
WDR19	0	.	GRCh38	chr4	39232230	39232230	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgattataacctggctcaGgacttgtaccttgcatccag	11	11	8	11	1	1	0	1	0	0	0	2	2	2	1	3	2	4	3	3	2	4	5	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.2211G>A	p.=	p.Q737Q	ENST00000399820	19/37	97	83	14	128	128	0	strelka-varscan	WDR19,synonymous_variant,p.=,ENST00000399820,NM_025132.3;WDR19,non_coding_transcript_exon_variant,,ENST00000515631,;WDR19,non_coding_transcript_exon_variant,,ENST00000511729,;WDR19,upstream_gene_variant,,ENST00000502718,;WDR19,missense_variant,p.Arg121Lys,ENST00000507228,;WDR19,3_prime_UTR_variant,,ENST00000506869,NM_001317924.1;WDR19,non_coding_transcript_exon_variant,,ENST00000512095,;	A	ENST00000399820	Transcript	synonymous_variant	2365/4520	2211/4029	737/1342	Q	caG/caA		1		1	WDR19	HGNC	HGNC:18340	protein_coding	YES	CCDS47042.1	ENSP00000382717	Q8NEZ3		UPI000004CC24	NM_025132.3			19/37		hmmpanther:PTHR14920,hmmpanther:PTHR14920:SF0																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	24	39232230	39232230	G	A	1	0	0	0	0	0	0	0	1	17839	991	35	3		3	WDR19	4	39232230	Silent	SNP	G	C3L-01632_TP		39232230	150982325	44	7637											
RFC1	0	.	GRCh38	chr4	39311457	39311457	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacgaacctcagtttcaacTgctatttcatacttggattt	11	16	5	9	1	3	0	3	0	0	0	3	2	3	1	1	1	5	2	1	1	5	7	novel		C3L-01632_TP	C3L-01632_NB	T	T																c.1476A>G	p.=	p.A492A	ENST00000381897	12/25	175	148	27	225	225	0	strelka-varscan	RFC1,synonymous_variant,p.=,ENST00000381897,NM_001204747.1;RFC1,synonymous_variant,p.=,ENST00000349703,NM_002913.4;RFC1,synonymous_variant,p.=,ENST00000504554,;RFC1,non_coding_transcript_exon_variant,,ENST00000502706,;RFC1,downstream_gene_variant,,ENST00000509084,;	C	ENST00000381897	Transcript	synonymous_variant	1610/4886	1476/3447	492/1148	A	gcA/gcG		1		-1	RFC1	HGNC	HGNC:9969	protein_coding	YES	CCDS56329.1	ENSP00000371321	P35251		UPI0000167BB4	NM_001204747.1			12/25		hmmpanther:PTHR23389:SF10,hmmpanther:PTHR23389,PIRSF_domain:PIRSF036578																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	24	39311457	39311457	T	C	1	0	0	0	0	0	0	0	1	13415	1567	55	5		5	RFC1	4	39311457	Silent	SNP	T	C3L-01632_TP	79227	39311457	150903098	45	7638											
GABRG1	0	.	GRCh38	chr4	46058336	46058336	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatcccattcttctgctcAggtcaaaaaaaattgtcatg	14	13	5	9	0	5	0	3	0	2	0	6	0	6	0	1	1	1	1	1	1	6	4	novel		C3L-01632_TP	C3L-01632_NB	A	A																c.797T>G	p.Leu266Arg	p.L266R	ENST00000295452	7/9	107	92	15	154	153	1	strelka-varscan	GABRG1,missense_variant,p.Leu266Arg,ENST00000295452,NM_173536.3;	C	ENST00000295452	Transcript	missense_variant	965/6785	797/1398	266/465	L/R	cTg/cGg		1		-1	GABRG1	HGNC	HGNC:4086	protein_coding	YES	CCDS3470.1	ENSP00000295452	Q8N1C3		UPI0000047AE2	NM_173536.3	deleterious(0)		7/9		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR00252,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	24	46058336	46058336	A	C	1	0	0	0	0	1	0	0	0	6042	188	7	5		5	GABRG1	4	46058336	Missense_Mutation	SNP	A	C3L-01632_TP	6746879	46058336	144156219	46	7639											
LRRC66	0	.	GRCh38	chr4	51995992	51995992	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcttcttcctgagacCagagccggcctttgccttct	4	14	8	15	1	3	2	0	1	3	2	5	3	4	2	5	1	3	1	5	1	0	4	rs369693787		C3L-01632_TP	C3L-01632_NB	C	C																c.1030G>T	p.Gly344Cys	p.G344C	ENST00000343457	4/4	165	128	37	303	303	0	strelka-varscan	LRRC66,missense_variant,p.Gly344Cys,ENST00000343457,NM_001024611.1;	A	ENST00000343457	Transcript	missense_variant	1037/3327	1030/2643	344/880	G/C	Ggt/Tgt	rs369693787	1		-1	LRRC66	HGNC	HGNC:34299	protein_coding	YES	CCDS43229.1	ENSP00000341944	Q68CR7		UPI0000425C5B	NM_001024611.1	deleterious(0.03)		4/4																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	51995992	51995992	C	A	1	0	0	0	0	1	0	0	0	8914	594	21	2		2	LRRC66	4	51995992	Missense_Mutation	SNP	C	C3L-01632_TP	5937656	51995992	138218563	47	7640											
UGT2B11	0	.	GRCh38	chr4	69208424	69208424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatgttacttatcactgacCccagagaaaacaccacaaca	16	8	4	13	0	2	2	2	1	0	1	2	3	2	2	3	0	3	1	3	0	5	2	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.929G>T	p.Gly310Val	p.G310V	ENST00000446444	3/6	206	164	42	304	302	2	strelka-varscan-mutect	UGT2B11,missense_variant,p.Gly310Val,ENST00000446444,NM_001073.1;RP11-704M14.1,intron_variant,,ENST00000505646,;RP11-704M14.1,intron_variant,,ENST00000504301,;UGT2B11,upstream_gene_variant,,ENST00000513315,;	A	ENST00000446444	Transcript	missense_variant	938/2088	929/1590	310/529	G/V	gGg/gTg		1		-1	UGT2B11	HGNC	HGNC:12545	protein_coding	YES	CCDS3527.1	ENSP00000387683	O75310		UPI0000137A97	NM_001073.1	deleterious(0)		3/6		Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF365,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	69208424	69208424	C	A	1	0	0	0	0	1	0	0	0	17481	623	22	2		2	UGT2B11	4	69208424	Missense_Mutation	SNP	C	C3L-01632_TP	17212432	69208424	121006131	48	7641											
ENAM	0	.	GRCh38	chr4	70643786	70643786	+	Missense_Mutation	SNP	G	G	T																															gtattttaacagaaatatctGggatcaggcaacacatttac																								novel		C3L-01632_TP	C3L-01632_NB	G	G																c.2360G>T	p.Trp787Leu	p.W787L	ENST00000396073	9/9	316	264	52	520	520	0	strelka-varscan-mutect	ENAM,missense_variant,p.Trp787Leu,ENST00000396073,NM_031889.2;ENAM,intron_variant,,ENST00000472903,;ENAM,downstream_gene_variant,,ENST00000472597,;	T	ENST00000396073	Transcript	missense_variant	2641/5679	2360/3429	787/1142	W/L	tGg/tTg		1		1	ENAM	HGNC	HGNC:3344	protein_coding	YES	CCDS3544.2	ENSP00000379383	Q9NRM1		UPI000013CE60	NM_031889.2	deleterious(0)		9/9		hmmpanther:PTHR16784:SF2,hmmpanther:PTHR16784,Pfam_domain:PF15362																	MODERATE	1	SNV	1			1										PASS		rs987268909	.												T	3	4	24	70643786	70643786	G	T	1	0	0	0	0	1	0	0	0	4954	1357	47	2		2	ENAM	4	70643786	Missense_Mutation	SNP	G	C3L-01632_TP	1435362	70643786	119570769	49	7642	174	2									
ENAM	0	.	GRCh38	chr4	70643787	70643787	+	Missense_Mutation	SNP	G	G	T																															tattttaacagaaatatctgGgatcaggcaacacatttaca																								rs748480572		C3L-01632_TP	C3L-01632_NB	G	G																c.2361G>T	p.Trp787Cys	p.W787C	ENST00000396073	9/9	322	269	53	517	517	0	strelka-varscan-mutect	ENAM,missense_variant,p.Trp787Cys,ENST00000396073,NM_031889.2;ENAM,intron_variant,,ENST00000472903,;ENAM,downstream_gene_variant,,ENST00000472597,;	T	ENST00000396073	Transcript	missense_variant	2642/5679	2361/3429	787/1142	W/C	tgG/tgT	rs748480572,COSM3605525	1		1	ENAM	HGNC	HGNC:3344	protein_coding	YES	CCDS3544.2	ENSP00000379383	Q9NRM1		UPI000013CE60	NM_031889.2	deleterious(0)		9/9		hmmpanther:PTHR16784:SF2,hmmpanther:PTHR16784,Pfam_domain:PF15362											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs748480572	.												T	3	4	24	70643787	70643787	G	T	1	0	0	0	0	1	0	0	0	4954	1241	43	2		2	ENAM	4	70643787	Missense_Mutation	SNP	G	C3L-01632_TP	1	70643787	119570768	50	7643	174	2									
PTPN13	0	.	GRCh38	chr4	86745069	86745069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacctctgctcttaccAgcataagttccagctacaga	10	10	7	14	0	2	1	0	0	2	1	3	1	3	1	3	0	6	6	3	0	3	4	novel		C3L-01632_TP	C3L-01632_NB	A	A																c.2591A>G	p.Gln864Arg	p.Q864R	ENST00000436978	17/48	106	89	17	195	195	0	strelka-varscan-mutect	PTPN13,missense_variant,p.Gln864Arg,ENST00000436978,NM_080685.2;PTPN13,missense_variant,p.Gln864Arg,ENST00000427191,NM_006264.2;PTPN13,missense_variant,p.Gln864Arg,ENST00000411767,NM_080683.2;PTPN13,missense_variant,p.Gln864Arg,ENST00000511467,;PTPN13,missense_variant,p.Gln864Arg,ENST00000316707,NM_080684.2;	G	ENST00000436978	Transcript	missense_variant	3071/8573	2591/7473	864/2490	Q/R	cAg/cGg		1		1	PTPN13	HGNC	HGNC:9646	protein_coding	YES	CCDS47093.1	ENSP00000394794	Q12923		UPI000016075D	NM_080685.2	deleterious(0.01)		17/48		PROSITE_profiles:PS50057,hmmpanther:PTHR19134:SF197,hmmpanther:PTHR19134,PIRSF_domain:PIRSF000933,Gene3D:2.30.29.30,Pfam_domain:PF09380,SMART_domains:SM01196,Superfamily_domains:SSF50729																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	24	86745069	86745069	A	G	1	0	0	0	0	1	0	0	0	12935	188	7	5		5	PTPN13	4	86745069	Missense_Mutation	SNP	A	C3L-01632_TP	16101282	86745069	103469486	51	7644											
ADH7	0	.	GRCh38	chr4	99415497	99415497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttgtcctgaattgagcaGctcaaatccttcactgattt	9	15	6	11	0	2	3	2	3	0	0	4	3	4	3	3	0	2	2	3	0	2	4	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1141C>A	p.Leu381Met	p.L381M	ENST00000476959	8/9	60	56	4	120	120	0	varscan-mutect	ADH7,missense_variant,p.Leu361Met,ENST00000437033,;ADH7,missense_variant,p.Leu373Met,ENST00000209665,NM_000673.4;ADH7,missense_variant,p.Leu304Met,ENST00000482593,;ADH7,missense_variant,p.Leu381Met,ENST00000476959,NM_001166504.1;ADH7,non_coding_transcript_exon_variant,,ENST00000485660,;	T	ENST00000476959	Transcript	missense_variant	1171/1325	1141/1185	381/394	L/M	Ctg/Atg		1		-1	ADH7	HGNC	HGNC:256	protein_coding	YES	CCDS54781.1	ENSP00000420269	P40394		UPI00017A81B5	NM_001166504.1	deleterious(0.01)		8/9		hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF355,Superfamily_domains:SSF50129																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	24	99415497	99415497	G	T	1	0	0	0	0	1	0	0	0	386	962	34	2		2	ADH7	4	99415497	Missense_Mutation	SNP	G	C3L-01632_TP	12670428	99415497	90799058	52	7645											
USP38	0	.	GRCh38	chr4	143213779	143213779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaactcacatacgttgtttGaactgcaggagtacctcaca	12	10	8	11	2	2	1	2	1	0	0	2	3	2	2	1	1	5	4	1	1	4	4	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1803G>T	p.Leu601Phe	p.L601F	ENST00000307017	9/10	137	106	31	245	244	1	strelka-varscan-mutect	USP38,missense_variant,p.Leu601Phe,ENST00000307017,NM_001290326.1,NM_032557.6;USP38,missense_variant,p.Leu601Phe,ENST00000510377,NM_001290325.1;USP38,3_prime_UTR_variant,,ENST00000511739,;	T	ENST00000307017	Transcript	missense_variant	2309/7009	1803/3129	601/1042	L/F	ttG/ttT		1		1	USP38	HGNC	HGNC:20067	protein_coding	YES	CCDS3758.1	ENSP00000303434	Q8NB14		UPI0000047AF9	NM_001290326.1,NM_032557.6	deleterious(0)		9/10		Gene3D:1nbfA02,Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF500,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	24	143213779	143213779	G	T	1	0	0	0	0	1	0	0	0	17611	1281	45	2		2	USP38	4	143213779	Missense_Mutation	SNP	G	C3L-01632_TP	43798282	143213779	47000776	53	7646											
FSTL5	0	.	GRCh38	chr4	161542623	161542623	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttggtatgccctctgcatgGcacctaagactggcagttac	8	12	10	11	0	1	1	0	0	1	1	1	1	1	1	2	3	3	5	2	3	3	4	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1086C>A	p.Cys362Ter	p.C362*	ENST00000306100	9/16	138	130	8	188	188	0	strelka-varscan-mutect	FSTL5,stop_gained,p.Cys362Ter,ENST00000306100,NM_020116.4;FSTL5,stop_gained,p.Cys361Ter,ENST00000379164,NM_001128427.2;FSTL5,stop_gained,p.Cys361Ter,ENST00000427802,NM_001128428.2;FSTL5,non_coding_transcript_exon_variant,,ENST00000511170,;	T	ENST00000306100	Transcript	stop_gained	1523/4831	1086/2544	362/847	C/*	tgC/tgA		1		-1	FSTL5	HGNC	HGNC:21386	protein_coding	YES	CCDS3802.1	ENSP00000305334	Q8N475		UPI000020B66B	NM_020116.4			9/16		PROSITE_profiles:PS50835,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF44,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	24	161542623	161542623	G	T	1	0	0	0	0	0	1	0	0	5954	1195	42	2		2	FSTL5	4	161542623	Nonsense_Mutation	SNP	G	C3L-01632_TP	18328844	161542623	28671932	54	7647											
FSTL5	0	.	GRCh38	chr4	161920516	161920516	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgtcagatccacacacAggtttgtagtgacgtttgca	9	12	9	11	2	2	2	1	1	1	1	4	2	3	2	2	1	1	4	2	1	1	3	novel		C3L-01632_TP	C3L-01632_NB	A	A																c.297T>A	p.=	p.P99P	ENST00000306100	4/16	280	259	21	432	432	0	strelka-varscan-mutect	FSTL5,synonymous_variant,p.=,ENST00000306100,NM_020116.4;FSTL5,synonymous_variant,p.=,ENST00000379164,NM_001128427.2;FSTL5,synonymous_variant,p.=,ENST00000427802,NM_001128428.2;	T	ENST00000306100	Transcript	synonymous_variant	734/4831	297/2544	99/847	P	ccT/ccA		1		-1	FSTL5	HGNC	HGNC:21386	protein_coding	YES	CCDS3802.1	ENSP00000305334	Q8N475		UPI000020B66B	NM_020116.4			4/16		PROSITE_profiles:PS51465,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF44,Gene3D:3.30.60.30,Pfam_domain:PF07648,SMART_domains:SM00280,Superfamily_domains:SSF100895																	LOW	1	SNV	1			1										PASS		rs1231455420	.												T	2	4	24	161920516	161920516	A	T	1	0	0	0	0	0	0	0	1	5954	175	7	4		4	FSTL5	4	161920516	Silent	SNP	A	C3L-01632_TP	377893	161920516	28294039	55	7648											
TENM3	0	.	GRCh38	chr4	182775039	182775039	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggcaccgctaatccgacGgttgccaaaagaaacatgac	13	6	10	12	3	0	2	0	1	0	1	1	3	1	2	3	2	2	4	3	2	4	2	rs183374276		C3L-01632_TP	C3L-01632_NB	G	G																c.5190G>C	p.=	p.T1730T	ENST00000511685	24/28	349	256	93	577	577	0	strelka-varscan	TENM3,synonymous_variant,p.=,ENST00000511685,NM_001080477.2;RP11-18D7.2,upstream_gene_variant,,ENST00000513255,;	C	ENST00000511685	Transcript	synonymous_variant	5313/10896	5190/8100	1730/2699	T	acG/acC	rs183374276	1		1	TENM3	HGNC	HGNC:29944	protein_coding	YES	CCDS47165.1	ENSP00000424226	Q9P273	A0A140VJW8	UPI00006C0820	NM_001080477.2			24/28		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10																	LOW		SNV	5			1										PASS		.	.												C	2	2	24	182775039	182775039	G	C	1	0	0	0	0	0	0	0	1	16173	1103	39	4		4	TENM3	4	182775039	Silent	SNP	G	C3L-01632_TP	20854523	182775039	7439516	56	7649											
DNAH5	0	.	GRCh38	chr5	13701341	13701341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacccgtcatccaaaagcaGtgaggtcggccattgaaaac	15	6	9	11	2	1	2	1	2	0	0	3	2	2	2	3	2	3	1	3	2	5	1	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.13434C>A	p.His4478Gln	p.H4478Q	ENST00000265104	77/79	337	272	65	406	406	0	strelka-varscan-mutect	DNAH5,missense_variant,p.His4478Gln,ENST00000265104,NM_001369.2;	T	ENST00000265104	Transcript	missense_variant	13539/15633	13434/13875	4478/4624	H/Q	caC/caA		1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2	tolerated(0.12)		77/79		hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676,Pfam_domain:PF03028																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	24	13701341	13701341	G	T	1	0	0	0	0	1	0	0	0	4419	1020	36	2		2	DNAH5	5	13701341	Missense_Mutation	SNP	G	C3L-01632_TP		13701341	167836918	57	7650											
CDH10	0	.	GRCh38	chr5	24492882	24492882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaaaaaaatttctgtccaCctaaagggtcatctttgtct	13	14	6	8	0	4	1	1	1	3	0	5	1	5	1	2	1	0	0	2	1	6	3	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.1559G>T	p.Gly520Val	p.G520V	ENST00000264463	10/12	140	116	24	199	198	1	strelka-varscan	CDH10,missense_variant,p.Gly520Val,ENST00000264463,NM_006727.3;CDH10,non_coding_transcript_exon_variant,,ENST00000502921,;CDH10,3_prime_UTR_variant,,ENST00000510477,;CDH10,non_coding_transcript_exon_variant,,ENST00000503958,;	A	ENST00000264463	Transcript	missense_variant	2067/3438	1559/2367	520/788	G/V	gGt/gTt		1		-1	CDH10	HGNC	HGNC:1749	protein_coding	YES	CCDS3892.1	ENSP00000264463	Q9Y6N8	X5D8X5	UPI0000167B7B	NM_006727.3	tolerated(0.37)		10/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	24492882	24492882	C	A	1	0	0	0	0	1	0	0	0	2799	507	18	2		2	CDH10	5	24492882	Missense_Mutation	SNP	C	C3L-01632_TP	10791541	24492882	157045377	58	7651											
NPR3	0	.	GRCh38	chr5	32780741	32780741	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatcgccgggcaggtgtcCatagatgccaacggagaccg	9	6	15	11	4	0	2	0	0	0	2	2	3	1	2	4	4	2	2	4	4	3	2			C3L-01632_TP	C3L-01632_NB	C	C																c.1215C>T	p.=	p.S405S	ENST00000265074	5/8	337	275	62	407	407	0	strelka-varscan	NPR3,synonymous_variant,p.=,ENST00000265074,NM_001204375.1;NPR3,synonymous_variant,p.=,ENST00000326958,NM_001204376.1;NPR3,synonymous_variant,p.=,ENST00000434067,;NPR3,synonymous_variant,p.=,ENST00000415167,NM_000908.3;NPR3,synonymous_variant,p.=,ENST00000509104,;NPR3,non_coding_transcript_exon_variant,,ENST00000506712,;	T	ENST00000265074	Transcript	synonymous_variant	1558/7344	1215/1626	405/541	S	tcC/tcT	COSM1067337,COSM5332799,COSM5332800	1		1	NPR3	HGNC	HGNC:7945	protein_coding	YES	CCDS56357.1	ENSP00000265074	P17342		UPI0000125B46	NM_001204375.1			5/8		hmmpanther:PTHR11920:SF302,hmmpanther:PTHR11920,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR00255											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												T	2	4	24	32780741	32780741	C	T	1	0	0	0	0	0	0	0	1	10652	581	21	3		3	NPR3	5	32780741	Silent	SNP	C	C3L-01632_TP	8287859	32780741	148757518	59	7652											
C9	0	.	GRCh38	chr5	39342096	39342096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgaacacttaccatttGtctgagacaaggatcgcatt	13	11	9	8	1	1	3	0	2	1	2	2	6	1	4	1	1	2	1	1	1	3	3	rs372918983		C3L-01632_TP	C3L-01632_NB	G	G																c.178C>A	p.Gln60Lys	p.Q60K	ENST00000263408	2/11	236	194	42	263	263	0	strelka-varscan	C9,missense_variant,p.Gln60Lys,ENST00000263408,NM_001737.3;C9,non_coding_transcript_exon_variant,,ENST00000509186,;C9,non_coding_transcript_exon_variant,,ENST00000483232,;C9,non_coding_transcript_exon_variant,,ENST00000467285,;	T	ENST00000263408	Transcript	missense_variant	274/2713	178/1680	60/559	Q/K	Caa/Aaa	rs372918983	1		-1	C9	HGNC	HGNC:1358	protein_coding	YES	CCDS3929.1	ENSP00000263408	P02748		UPI0000001065	NM_001737.3	tolerated(0.07)		2/11		PROSITE_profiles:PS50092,hmmpanther:PTHR19325:SF362,hmmpanther:PTHR19325,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	24	39342096	39342096	G	T	1	0	0	0	0	1	0	0	0	2169	1391	48	2		2	C9	5	39342096	Missense_Mutation	SNP	G	C3L-01632_TP	6561355	39342096	142196163	60	7653											
BHMT2	0	.	GRCh38	chr5	79077585	79077585	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgggctctggactccaGaggcagtgatagaacaccca	11	6	13	11	0	1	3	0	1	1	2	2	4	2	4	2	4	1	3	2	4	2	1	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.139G>T	p.Glu47Ter	p.E47*	ENST00000255192	2/8	140	109	31	174	174	0	strelka-varscan-mutect	BHMT2,stop_gained,p.Glu47Ter,ENST00000255192,NM_017614.4;BHMT2,stop_gained,p.Glu47Ter,ENST00000521567,NM_001178005.1;BHMT2,5_prime_UTR_variant,,ENST00000518666,;DMGDH,intron_variant,,ENST00000520388,;BHMT2,splice_region_variant,,ENST00000519743,;BHMT2,non_coding_transcript_exon_variant,,ENST00000523472,;BHMT2,non_coding_transcript_exon_variant,,ENST00000518758,;BHMT2,upstream_gene_variant,,ENST00000523046,;	T	ENST00000255192	Transcript	stop_gained	205/2050	139/1092	47/363	E/*	Gag/Tag		1		1	BHMT2	HGNC	HGNC:1048	protein_coding	YES	CCDS4045.1	ENSP00000255192	Q9H2M3	A0A024RAQ0	UPI00000701B9	NM_017614.4			2/8		PROSITE_profiles:PS50970,hmmpanther:PTHR21091,hmmpanther:PTHR21091:SF115,PIRSF_domain:PIRSF037505,Gene3D:3.20.20.330,Pfam_domain:PF02574,Superfamily_domains:SSF82282																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	24	79077585	79077585	G	T	1	0	0	0	0	0	1	0	0	1575	943	33	2		2	BHMT2	5	79077585	Nonsense_Mutation	SNP	G	C3L-01632_TP	39735489	79077585	102460674	61	7654											
VCAN	0	.	GRCh38	chr5	83538814	83538814	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagatttcagtggtgaCtttagagaatactcaacagt	14	11	11	5	0	2	3	2	1	0	2	2	6	2	4	0	2	2	0	0	2	5	4			C3L-01632_TP	C3L-01632_NB	C	C																c.5811C>G	p.Asp1937Glu	p.D1937E	ENST00000265077	8/15	358	337	21	553	553	0	strelka-varscan-mutect	VCAN,missense_variant,p.Asp1937Glu,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Asp950Glu,ENST00000343200,NM_001164097.1;VCAN,missense_variant,p.Asp950Glu,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	G	ENST00000265077	Transcript	missense_variant	6376/12625	5811/10191	1937/3396	D/E	gaC/gaG	COSM4766736	1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	tolerated(0.39)		8/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6											1						MODERATE	1	SNV	1		1	1										PASS		rs1428527779	.												G	3	3	24	83538814	83538814	C	G	1	0	0	0	0	1	0	0	0	17683	564	20	4		4	VCAN	5	83538814	Missense_Mutation	SNP	C	C3L-01632_TP	4461229	83538814	97999445	62	7655											
FBN2	0	.	GRCh38	chr5	128311314	128311314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcaccttcacagatgcggGtatcctcgctgaggtagtag	8	11	11	11	2	2	2	2	1	1	1	5	2	3	2	2	2	1	4	2	2	3	4	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.5060C>A	p.Thr1687Asn	p.T1687N	ENST00000508053	45/71	289	241	48	474	474	0	strelka-varscan-mutect	FBN2,missense_variant,p.Thr1687Asn,ENST00000508053,;FBN2,missense_variant,p.Thr1687Asn,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Thr1686Asn,ENST00000619499,;	T	ENST00000508053	Transcript	missense_variant	6035/11132	5060/8739	1687/2912	T/N	aCc/aAc		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		deleterious(0.04)		45/71		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	24	128311314	128311314	G	T	1	0	0	0	0	1	0	0	0	5566	1261	44	2		2	FBN2	5	128311314	Missense_Mutation	SNP	G	C3L-01632_TP	44772500	128311314	53226945	63	7656			1	7		2	2	12	G		7.301581e-05
FBN2	0	.	GRCh38	chr5	128311325	128311325	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgcgggtatcctcgctGaggtagtagccttgtgggca	7	10	15	9	2	0	2	0	1	0	1	2	2	1	2	2	3	2	5	2	3	3	4	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.5049C>A	p.=	p.L1683L	ENST00000508053	45/71	317	256	61	486	486	0	strelka-varscan-mutect	FBN2,synonymous_variant,p.=,ENST00000508053,;FBN2,synonymous_variant,p.=,ENST00000262464,NM_001999.3;FBN2,synonymous_variant,p.=,ENST00000619499,;	T	ENST00000508053	Transcript	synonymous_variant	6024/11132	5049/8739	1683/2912	L	ctC/ctA		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468				45/71		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	24	128311325	128311325	G	T	1	0	0	0	0	0	0	0	1	5566	1277	45	2		2	FBN2	5	128311325	Silent	SNP	G	C3L-01632_TP	11	128311325	53226934	64	7657			1	7		2	2	12	G		7.301581e-05
FNIP1	0	.	GRCh38	chr5	131671508	131671508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacttcctacttacccaGgaaaaggtatctcatcctct	13	11	5	12	0	2	0	1	0	2	0	5	2	4	1	3	2	3	1	3	2	7	4	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.2936C>T	p.Pro979Leu	p.P979L	ENST00000510461	14/18	57	45	12	122	122	0	strelka-varscan-mutect	FNIP1,missense_variant,p.Pro731Leu,ENST00000615660,;FNIP1,missense_variant,p.Pro951Leu,ENST00000307968,NM_001008738.2;FNIP1,missense_variant,p.Pro934Leu,ENST00000307954,;FNIP1,missense_variant,p.Pro979Leu,ENST00000510461,NM_133372.2;CTC-432M15.3,intron_variant,,ENST00000514667,;	A	ENST00000510461	Transcript	missense_variant	3032/3845	2936/3501	979/1166	P/L	cCt/cTt		1		-1	FNIP1	HGNC	HGNC:29418	protein_coding	YES	CCDS34227.1	ENSP00000421985	Q8TF40		UPI00001AEE81	NM_133372.2	deleterious(0)		14/18		Pfam_domain:PF14638,hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	131671508	131671508	G	A	1	0	0	0	0	1	0	0	0	5833	1014	35	3		3	FNIP1	5	131671508	Missense_Mutation	SNP	G	C3L-01632_TP	3360183	131671508	49866751	65	7658											
CSF2	0	.	GRCh38	chr5	132075773	132075773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgcaacccagattatcaCctttgaaagtttcaaagaga	14	11	7	9	0	2	3	2	1	0	2	2	4	2	3	2	0	2	2	2	0	4	3	rs755412035		C3L-01632_TP	C3L-01632_NB	C	C																c.356C>T	p.Thr119Ile	p.T119I	ENST00000296871	4/4	275	230	45	422	420	2	strelka-varscan-mutect	CSF2,missense_variant,p.Thr119Ile,ENST00000296871,NM_000758.3;snoZ6,upstream_gene_variant,,ENST00000517258,;	T	ENST00000296871	Transcript	missense_variant	390/787	356/435	119/144	T/I	aCc/aTc	rs755412035	1		1	CSF2	HGNC	HGNC:2434	protein_coding	YES	CCDS4150.1	ENSP00000296871	P04141		UPI00000358DB	NM_000758.3	deleterious(0.03)		4/4		Gene3D:1.20.1250.10,PD007349,Pfam_domain:PF01109,Prints_domain:PR00693,hmmpanther:PTHR10059,hmmpanther:PTHR10059:SF0,SMART_domains:SM00040,Superfamily_domains:SSF47266																	MODERATE	1	SNV	1			1										PASS		rs755412035	.												T	3	4	24	132075773	132075773	C	T	1	0	0	0	0	1	0	0	0	3734	507	18	3		3	CSF2	5	132075773	Missense_Mutation	SNP	C	C3L-01632_TP	404265	132075773	49462486	66	7659											
SLIT3	0	.	GRCh38	chr5	168671243	168671243	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcctgatcgcagagtgggCcggtccagcctgggcggcac	5	6	15	15	3	0	2	0	1	0	1	3	2	2	2	5	4	1	2	5	4	0	0	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.4103G>T	p.Gly1368Val	p.G1368V	ENST00000332966	34/36	119	96	23	203	203	0	strelka-varscan-mutect	SLIT3,missense_variant,p.Gly1361Val,ENST00000519560,NM_003062.3;SLIT3,missense_variant,p.Gly1231Val,ENST00000404867,;SLIT3,missense_variant,p.Gly1368Val,ENST00000332966,NM_001271946.1;CTC-558O2.2,downstream_gene_variant,,ENST00000520041,;	A	ENST00000332966	Transcript	missense_variant	4176/4895	4103/4593	1368/1530	G/V	gGc/gTc		1		-1	SLIT3	HGNC	HGNC:11087	protein_coding	YES	CCDS64311.1	ENSP00000332164	O75094		UPI0001E8F75D	NM_001271946.1	deleterious(0.02)		34/36		PROSITE_profiles:PS50026,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,Pfam_domain:PF12661,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00179																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	168671243	168671243	C	A	1	0	0	0	0	1	0	0	0	15032	739	26	2		2	SLIT3	5	168671243	Missense_Mutation	SNP	C	C3L-01632_TP	36595470	168671243	12867016	67	7660											
FAM196B	0	.	GRCh38	chr5	169882654	169882654	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcctccacagattgcagTcggccttggaggtcgcagag	8	9	13	11	2	0	2	0	0	0	2	4	4	2	3	3	3	1	2	3	3	0	3	novel		C3L-01632_TP	C3L-01632_NB	T	T																c.1245A>C	p.=	p.R415R	ENST00000377365	2/4	222	205	17	306	305	1	strelka-mutect	FAM196B,synonymous_variant,p.=,ENST00000377365,NM_001129891.1;DOCK2,intron_variant,,ENST00000256935,NM_004946.2;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;	G	ENST00000377365	Transcript	synonymous_variant	2627/2999	1245/1608	415/535	R	cgA/cgC		1		-1	FAM196B	HGNC	HGNC:37271	protein_coding	YES	CCDS47336.1	ENSP00000366582	A6NMK8		UPI0000480500	NM_001129891.1			2/4		Pfam_domain:PF15265,hmmpanther:PTHR28682,hmmpanther:PTHR28682:SF2																	LOW		SNV	2			1										PASS		.	.												G	2	3	24	169882654	169882654	T	G	1	0	0	0	0	0	0	0	1	5374	1654	58	5		5	FAM196B	5	169882654	Silent	SNP	T	C3L-01632_TP	1211411	169882654	11655605	68	7661											
LCP2	0	.	GRCh38	chr5	170270816	170270816	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcggctcataatccgcGtcatcttccacgggtgcctc	5	10	12	14	4	3	0	2	0	1	0	6	0	5	0	3	4	1	1	3	4	1	2	rs561432915		C3L-01632_TP	C3L-01632_NB	G	G																c.426C>G	p.Asp142Glu	p.D142E	ENST00000046794	7/21	147	120	27	182	182	0	strelka-varscan-mutect	LCP2,missense_variant,p.Asp142Glu,ENST00000046794,NM_005565.3;LCP2,missense_variant,p.Asp142Glu,ENST00000628092,;LCP2,upstream_gene_variant,,ENST00000521416,;LCP2,upstream_gene_variant,,ENST00000520344,;LCP2,non_coding_transcript_exon_variant,,ENST00000519594,;LCP2,downstream_gene_variant,,ENST00000522760,;LCP2,downstream_gene_variant,,ENST00000522823,;	C	ENST00000046794	Transcript	missense_variant	1042/4678	426/1602	142/533	D/E	gaC/gaG	rs561432915,COSM4919377,COSM4919378	1		-1	LCP2	HGNC	HGNC:6529	protein_coding	YES	CCDS47339.1	ENSP00000046794	Q13094		UPI000012E2AE	NM_005565.3	tolerated(0.11)		7/21		hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF1,Low_complexity_(Seg):seg											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs561432915	.												C	3	2	24	170270816	170270816	G	C	1	0	0	0	0	1	0	0	0	8598	1136	40	4		4	LCP2	5	170270816	Missense_Mutation	SNP	G	C3L-01632_TP	388162	170270816	11267443	69	7662											
ZNF354C	0	.	GRCh38	chr5	179079654	179079654	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatcagcgaattcacactGgacaaaaaccttatcagtgc	16	8	6	11	1	3	0	3	0	0	0	3	2	3	1	1	1	4	0	1	1	5	2	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1222G>T	p.Gly408Ter	p.G408*	ENST00000315475	5/5	174	130	44	305	305	0	strelka-varscan-mutect	ZNF354C,stop_gained,p.Gly408Ter,ENST00000315475,NM_014594.1;RP11-281O15.7,downstream_gene_variant,,ENST00000523735,;	T	ENST00000315475	Transcript	stop_gained	1528/5411	1222/1665	408/554	G/*	Gga/Tga		1		1	ZNF354C	HGNC	HGNC:16736	protein_coding	YES	CCDS4443.1	ENSP00000324064	Q86Y25		UPI0000161A6A	NM_014594.1			5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF140,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	24	179079654	179079654	G	T	1	0	0	0	0	0	1	0	0	18438	1349	47	2		2	ZNF354C	5	179079654	Nonsense_Mutation	SNP	G	C3L-01632_TP	8808838	179079654	2458605	70	7663											
RREB1	0	.	GRCh38	chr6	7229303	7229303	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcaagtgtcagctacctCaggaccccggctgcaccaac	10	6	8	17	1	3	0	3	0	0	0	3	1	3	1	4	2	4	3	4	2	3	1	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.1204C>T	p.Gln402Ter	p.Q402*	ENST00000379938	10/13	146	131	15	318	318	0	strelka-varscan-mutect	RREB1,stop_gained,p.Gln402Ter,ENST00000379938,NM_001003699.3;RREB1,stop_gained,p.Gln402Ter,ENST00000349384,NM_001003698.3;RREB1,stop_gained,p.Gln402Ter,ENST00000379933,NM_001168344.1;RREB1,stop_gained,p.Gln402Ter,ENST00000334984,NM_001003700.1;RREB1,stop_gained,p.Gln402Ter,ENST00000483150,;RREB1,upstream_gene_variant,,ENST00000611109,;	T	ENST00000379938	Transcript	stop_gained	1741/8778	1204/5229	402/1742	Q/*	Cag/Tag		1		1	RREB1	HGNC	HGNC:10449	protein_coding	YES	CCDS34335.1	ENSP00000369270	Q92766		UPI000020E496	NM_001003699.3			10/13		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF42																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	24	7229303	7229303	C	T	1	0	0	0	0	0	1	0	0	13933	827	29	3		3	RREB1	6	7229303	Nonsense_Mutation	SNP	C	C3L-01632_TP		7229303	163576676	71	7664											
ZNF184	0	.	GRCh38	chr6	27452289	27452289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggctgaaggctttccCacattcattgcattcgtacg	7	13	10	11	2	1	1	1	1	0	0	3	1	2	1	1	2	3	5	1	2	2	5	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.1270G>T	p.Gly424Trp	p.G424W	ENST00000211936	6/6	126	111	15	245	245	0	strelka-varscan-mutect	ZNF184,missense_variant,p.Gly424Trp,ENST00000211936,NM_001318892.1,NM_007149.2;ZNF184,missense_variant,p.Gly424Trp,ENST00000377419,;	A	ENST00000211936	Transcript	missense_variant	1555/3101	1270/2256	424/751	G/W	Ggg/Tgg		1		-1	ZNF184	HGNC	HGNC:12975	protein_coding	YES	CCDS4624.1	ENSP00000211936	Q99676	A0A024RCM2	UPI000013C311	NM_001318892.1,NM_007149.2	deleterious(0)		6/6		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF22,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	27452289	27452289	C	A	1	0	0	0	0	1	0	0	0	18331	594	21	2		2	ZNF184	6	27452289	Missense_Mutation	SNP	C	C3L-01632_TP	20222986	27452289	143353690	72	7665											
GRM4	0	.	GRCh38	chr6	34133137	34133137	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagcgcctgcacaaaggtCagcgactgctcgagggcatg	10	6	14	11	3	1	1	1	1	0	0	2	3	1	1	1	2	4	3	1	2	1	0	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.360G>A	p.=	p.L120L	ENST00000538487	2/11	110	87	23	223	222	1	strelka-varscan-mutect	GRM4,synonymous_variant,p.=,ENST00000374181,NM_001256811.2;GRM4,synonymous_variant,p.=,ENST00000538487,NM_000841.3;GRM4,intron_variant,,ENST00000374177,NM_001256809.2;GRM4,synonymous_variant,p.=,ENST00000609278,;GRM4,non_coding_transcript_exon_variant,,ENST00000607916,;GRM4,upstream_gene_variant,,ENST00000609973,;	T	ENST00000538487	Transcript	synonymous_variant	804/4153	360/2739	120/912	L	ctG/ctA		1		-1	GRM4	HGNC	HGNC:4596	protein_coding	YES	CCDS4787.1	ENSP00000440556	Q14833	A1L4F9	UPI000004A7DE	NM_000841.3			2/11		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF23,Superfamily_domains:SSF53822																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	24	34133137	34133137	C	T	1	0	0	0	0	0	0	0	1	6681	813	29	3		3	GRM4	6	34133137	Silent	SNP	C	C3L-01632_TP	6680848	34133137	136672842	73	7666											
CUL9	0	.	GRCh38	chr6	43198711	43198711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actactcctggacttggagcGtgtgctgtgccgtgagggca	6	10	15	10	2	0	1	0	1	0	0	1	3	1	3	2	3	4	2	2	3	1	2	rs145736095		C3L-01632_TP	C3L-01632_NB	G	G																c.2906G>C	p.Arg969Pro	p.R969P	ENST00000252050	12/41	341	292	49	501	501	0	strelka-varscan-mutect	CUL9,missense_variant,p.Arg969Pro,ENST00000252050,NM_015089.3;CUL9,missense_variant,p.Arg969Pro,ENST00000372647,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,upstream_gene_variant,,ENST00000515344,;	C	ENST00000252050	Transcript	missense_variant	2990/7780	2906/7554	969/2517	R/P	cGt/cCt	rs145736095,COSM1319088	1		1	CUL9	HGNC	HGNC:15982	protein_coding	YES	CCDS4890.1	ENSP00000252050	Q8IWT3		UPI000006F22F	NM_015089.3	deleterious(0)		12/41		hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs145736095	.												C	3	2	24	43198711	43198711	G	C	1	0	0	0	0	1	0	0	0	3871	1145	40	4		4	CUL9	6	43198711	Missense_Mutation	SNP	G	C3L-01632_TP	9065574	43198711	127607268	74	7667											
SPATS1	0	.	GRCh38	chr6	44360552	44360552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatcctgaggaattcagcCtgcttaagttgcagacgagt	12	11	10	8	1	1	2	1	1	0	1	2	4	2	3	2	1	3	3	2	1	4	4	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.394C>A	p.Leu132Met	p.L132M	ENST00000288390	3/8	140	117	23	199	199	0	strelka-varscan-mutect	SPATS1,missense_variant,p.Leu132Met,ENST00000288390,;SPATS1,missense_variant,p.Leu132Met,ENST00000323108,NM_145026.3;SPATS1,downstream_gene_variant,,ENST00000515220,;RP11-444E17.6,3_prime_UTR_variant,,ENST00000505802,;SPATS1,3_prime_UTR_variant,,ENST00000506468,;	A	ENST00000288390	Transcript	missense_variant	741/1354	394/903	132/300	L/M	Ctg/Atg		1		1	SPATS1	HGNC	HGNC:22957	protein_coding	YES	CCDS4911.1	ENSP00000424400	Q496A3		UPI0000072310		deleterious(0.02)		3/8		hmmpanther:PTHR35845,Pfam_domain:PF15160																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	44360552	44360552	C	A	1	0	0	0	0	1	0	0	0	15364	680	24	2		2	SPATS1	6	44360552	Missense_Mutation	SNP	C	C3L-01632_TP	1161841	44360552	126445427	75	7668											
CRISP3	0	.	GRCh38	chr6	49735562	49735562	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactggtttgcccacttttgGgcatttgctgcagcctcttt	4	16	9	12	0	1	0	0	0	1	0	1	0	1	0	2	2	4	4	2	2	0	5	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.288C>A	p.=	p.A96A	ENST00000433368	4/8	162	133	29	245	245	0	strelka-varscan-mutect	CRISP3,synonymous_variant,p.=,ENST00000433368,NM_001190986.1;CRISP3,synonymous_variant,p.=,ENST00000263045,NM_006061.2;CRISP3,synonymous_variant,p.=,ENST00000371159,;CRISP3,synonymous_variant,p.=,ENST00000354620,;	T	ENST00000433368	Transcript	synonymous_variant	358/2205	288/807	96/268	A	gcC/gcA		1		-1	CRISP3	HGNC	HGNC:16904	protein_coding	YES	CCDS55019.1	ENSP00000389026	P54108		UPI0001DBC27E	NM_001190986.1			4/8		Gene3D:3.40.33.10,Pfam_domain:PF00188,Prints_domain:PR00837,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF228,SMART_domains:SM00198,Superfamily_domains:SSF55797																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	24	49735562	49735562	G	T	1	0	0	0	0	0	0	0	1	3682	1219	43	2		2	CRISP3	6	49735562	Silent	SNP	G	C3L-01632_TP	5375010	49735562	121070417	76	7669											
COL9A1	0	.	GRCh38	chr6	70300331	70300331	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtaagtcatcttggccaatCctgatctttggacagagttc	9	13	10	9	0	3	2	1	1	2	1	5	3	4	3	2	3	0	2	2	3	2	4	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.144G>T	p.Arg48Ser	p.R48S	ENST00000357250	3/38	324	292	32	452	451	1	strelka-varscan-mutect	COL9A1,missense_variant,p.Arg48Ser,ENST00000357250,NM_001851.4;COL9A1,missense_variant,p.Arg48Ser,ENST00000370496,;	A	ENST00000357250	Transcript	missense_variant	303/4761	144/2766	48/921	R/S	agG/agT		1		-1	COL9A1	HGNC	HGNC:2217	protein_coding	YES	CCDS4971.1	ENSP00000349790	P20849		UPI000020D14B	NM_001851.4			3/38																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	70300331	70300331	C	A	1	0	0	0	0	1	0	0	0	3496	854	30	2		2	COL9A1	6	70300331	Missense_Mutation	SNP	C	C3L-01632_TP	20564769	70300331	100505648	77	7670											
COL12A1	0	.	GRCh38	chr6	75151141	75151141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactctgggttaaacttacCtggacctttgacactgttac	11	13	7	10	0	1	1	0	1	1	0	1	2	1	2	2	2	4	2	2	2	5	4	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.4147G>T	p.Gly1383Cys	p.G1383C	ENST00000322507	21/66	63	52	11	118	117	1	strelka-varscan-mutect	COL12A1,missense_variant,p.Gly1383Cys,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Gly194Cys,ENST00000615798,;COL12A1,missense_variant,p.Gly1383Cys,ENST00000483888,;COL12A1,missense_variant,p.Gly1383Cys,ENST00000416123,;COL12A1,missense_variant,p.Gly219Cys,ENST00000345356,NM_080645.2;COL12A1,missense_variant,p.Gly125Cys,ENST00000419671,;COL12A1,upstream_gene_variant,,ENST00000474564,;	A	ENST00000322507	Transcript	missense_variant,splice_region_variant	4457/11723	4147/9192	1383/3063	G/C	Ggt/Tgt		1		-1	COL12A1	HGNC	HGNC:2188	protein_coding	YES	CCDS43482.1	ENSP00000325146	Q99715		UPI000045890B	NM_004370.5	deleterious(0)		21/66		hmmpanther:PTHR11132:SF106,hmmpanther:PTHR11132																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	75151141	75151141	C	A	1	0	0	0	0	1	0	0	0	3457	695	24	2		2	COL12A1	6	75151141	Missense_Mutation	SNP	C	C3L-01632_TP	4850810	75151141	95654838	78	7671											
LAMA4	0	.	GRCh38	chr6	112114112	112114112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacaggctccctgtgatCaattggttttggattcaggg	10	12	11	8	0	2	1	2	1	0	0	3	2	3	2	1	4	1	2	1	4	2	4	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.5290G>T	p.Asp1764Tyr	p.D1764Y	ENST00000230538	38/39	252	210	42	361	361	0	strelka-varscan-mutect	LAMA4,missense_variant,p.Asp1764Tyr,ENST00000230538,NM_001105206.2;LAMA4,missense_variant,p.Asp1757Tyr,ENST00000522006,NM_001105207.2,NM_002290.4;LAMA4,missense_variant,p.Asp1757Tyr,ENST00000389463,;LAMA4,missense_variant,p.Asp1757Tyr,ENST00000424408,;	A	ENST00000230538	Transcript	missense_variant	5688/6547	5290/5472	1764/1823	D/Y	Gat/Tat		1		-1	LAMA4	HGNC	HGNC:6484	protein_coding	YES	CCDS43491.1	ENSP00000230538		A0A0A0MQS9	UPI000153D541	NM_001105206.2	deleterious(0.01)		38/39		PROSITE_profiles:PS50025,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	112114112	112114112	C	A	1	0	0	0	0	1	0	0	0	8512	826	29	2		2	LAMA4	6	112114112	Missense_Mutation	SNP	C	C3L-01632_TP	36962971	112114112	58691867	79	7672											
HS3ST5	0	.	GRCh38	chr6	114057692	114057692	+	Frame_Shift_Del	DEL	C	C	-																															ttgtaataagttttgttcttCctctccttcccctctagcac																										C3L-01632_TP	C3L-01632_NB	C	C																c.606delG	p.Lys203ArgfsTer13	p.K203Rfs*13	ENST00000312719	5/5	157	143	14	289	288	1	varindel-pindel	HS3ST5,frameshift_variant,p.Lys203ArgfsTer13,ENST00000312719,;HS3ST5,frameshift_variant,p.Lys203ArgfsTer13,ENST00000411826,NM_153612.3;RP3-399L15.3,intron_variant,,ENST00000519104,;RP3-399L15.3,intron_variant,,ENST00000519270,;RP3-399L15.3,intron_variant,,ENST00000523087,;	-	ENST00000312719	Transcript	frameshift_variant	1795/3901	606/1041	202/346	R/X	agG/ag	COSM3619635	1		-1	HS3ST5	HGNC	HGNC:19419	protein_coding	YES	CCDS34517.1	ENSP00000427888	Q8IZT8		UPI00000740A8				5/5		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF46,Superfamily_domains:SSF52540											1						HIGH		deletion	2		1	1										PASS		.	.												-	7	5	24	114057692	114057692	C	-	1	0	1	0	1	0	0	0	0	7262	854	30	0		0	HS3ST5	6	114057692	Frame_Shift_Del	DEL	C	C3L-01632_TP	1943580	114057692	56748287	80	7673											
SNX9	0	.	GRCh38	chr6	157940882	157940882	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttctgatttgggttgtaGctgagatgaatcactttcac	9	16	10	6	0	3	3	2	3	1	1	3	4	3	3	0	1	1	4	0	1	2	5	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1649-1G>T		p.X550_splice	ENST00000392185		112	86	26	181	181	0	strelka-mutect	SNX9,splice_acceptor_variant,,ENST00000392185,NM_016224.4;	T	ENST00000392185	Transcript	splice_acceptor_variant	-/4198	1649/1788	550/595				1		1	SNX9	HGNC	HGNC:14973	protein_coding	YES	CCDS5253.1	ENSP00000376024	Q9Y5X1		UPI0000135B47	NM_016224.4				16/17																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	24	157940882	157940882	G	T	1	0	0	0	0	0	0	1	0	15230	985	34	2		2	SNX9	6	157940882	Splice_Site	SNP	G	C3L-01632_TP	43883190	157940882	12865097	81	7674											
DACT2	0	.	GRCh38	chr6	168308236	168308236	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgccttgcaaacctcagCaccttgtccatgggacttct	7	11	9	14	0	2	0	1	0	1	0	3	1	3	1	4	2	4	3	4	2	1	3			C3L-01632_TP	C3L-01632_NB	C	C																c.1521G>T	p.=	p.V507V	ENST00000366795	4/4	210	197	13	427	427	0	strelka-varscan-mutect	DACT2,synonymous_variant,p.=,ENST00000366795,NM_214462.4;DACT2,synonymous_variant,p.=,ENST00000610183,NM_001286350.1;DACT2,synonymous_variant,p.=,ENST00000607983,;DACT2,intron_variant,,ENST00000366796,NM_001286351.1;	A	ENST00000366795	Transcript	synonymous_variant	1610/2942	1521/2325	507/774	V	gtG/gtT	COSM1076090,COSM1076091	1		-1	DACT2	HGNC	HGNC:21231	protein_coding	YES	CCDS47519.1	ENSP00000355760	Q5SW24		UPI00001D8145	NM_214462.4			4/4		hmmpanther:PTHR15919:SF13,hmmpanther:PTHR15919,Pfam_domain:PF15268											1,1						LOW	1	SNV	2		1,1	1										PASS		.	.												A	2	1	24	168308236	168308236	C	A	1	0	0	0	0	0	0	0	1	4024	697	25	2		2	DACT2	6	168308236	Silent	SNP	C	C3L-01632_TP	10367354	168308236	2497743	82	7675											
THSD7A	0	.	GRCh38	chr7	11636926	11636926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcgtttggatgcctccggGaccacattcatctcccatac	7	11	7	16	2	2	0	1	0	1	0	5	2	3	2	5	2	2	1	5	2	1	3	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.226C>T	p.Pro76Ser	p.P76S	ENST00000423059	2/28	106	93	13	202	202	0	strelka-varscan-mutect	THSD7A,missense_variant,p.Pro76Ser,ENST00000423059,NM_015204.2;THSD7A,missense_variant,p.Pro76Ser,ENST00000617773,;THSD7A,non_coding_transcript_exon_variant,,ENST00000480061,;	A	ENST00000423059	Transcript	missense_variant	478/10663	226/4974	76/1657	P/S	Ccc/Tcc		1		-1	THSD7A	HGNC	HGNC:22207	protein_coding	YES	CCDS47543.1	ENSP00000406482	Q9UPZ6		UPI00006C0B74	NM_015204.2	tolerated(0.29)		2/28		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,SMART_domains:SM00209																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	24	11636926	11636926	G	A	1	0	0	0	0	1	0	0	0	16313	1174	41	3		3	THSD7A	7	11636926	Missense_Mutation	SNP	G	C3L-01632_TP		11636926	147709047	83	7676											
HOXA10	0	.	GRCh38	chr7	27173448	27173448	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcctcctcgtcgccctGcgagcccccgccgctgccgc	1	6	12	22	7	0	0	0	0	0	0	3	1	1	0	7	0	4	1	7	0	0	0	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.859C>A	p.Gln287Lys	p.Q287K	ENST00000283921	1/2	109	86	23	203	203	0	strelka-varscan-mutect	HOXA10,missense_variant,p.Gln287Lys,ENST00000283921,NM_018951.3;HOXA10,missense_variant,p.Ala165Glu,ENST00000613671,;HOXA10,intron_variant,,ENST00000396344,;HOXA10-HOXA9,intron_variant,,ENST00000470747,;HOXA9,upstream_gene_variant,,ENST00000384852,;HOXA10-AS,downstream_gene_variant,,ENST00000519935,;HOXA10-AS,downstream_gene_variant,,ENST00000523790,;HOXA10-AS,downstream_gene_variant,,ENST00000519694,;HOXA9,intron_variant,,ENST00000465941,;HOXA9,upstream_gene_variant,,ENST00000497089,;HOXA10,upstream_gene_variant,,ENST00000521421,;HOXA10,upstream_gene_variant,,ENST00000524368,;HOXA10,upstream_gene_variant,,ENST00000519593,;HOXA9,upstream_gene_variant,,ENST00000487384,;HOXA9,upstream_gene_variant,,ENST00000489695,;	T	ENST00000283921	Transcript	missense_variant	859/2541	859/1233	287/410	Q/K	Cag/Aag		1		-1	HOXA10	HGNC	HGNC:5100	protein_coding	YES	CCDS5410.2	ENSP00000283921	P31260		UPI0000EE42DA	NM_018951.3	tolerated(0.77)		1/2																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	24	27173448	27173448	G	T	1	0	0	0	0	1	0	0	0	7183	1328	46	2		2	HOXA10	7	27173448	Missense_Mutation	SNP	G	C3L-01632_TP	15536522	27173448	132172525	84	7677											
ZNF804B	0	.	GRCh38	chr7	89327434	89327434	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaagaaaaagcacttaaaCgacttcatcagctggctgag	17	7	8	9	1	2	2	2	1	0	1	2	3	2	2	0	1	4	3	0	1	6	2			C3L-01632_TP	C3L-01632_NB	C	C																c.340C>T	p.Arg114Ter	p.R114*	ENST00000333190	3/4	236	190	46	359	359	0	strelka-varscan-mutect	ZNF804B,stop_gained,p.Arg114Ter,ENST00000333190,NM_181646.3;ZNF804B,stop_gained,p.Arg31Ter,ENST00000611114,;	T	ENST00000333190	Transcript	stop_gained	949/4659	340/4050	114/1349	R/*	Cga/Tga	COSM3785798	1		1	ZNF804B	HGNC	HGNC:21958	protein_coding	YES	CCDS5613.1	ENSP00000329638	A4D1E1		UPI00001A92D2	NM_181646.3			3/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12											1						HIGH	1	SNV	1		1	1										PASS		rs950169909	.												T	4	4	24	89327434	89327434	C	T	1	0	0	0	0	0	1	0	0	18756	528	19	1		1	ZNF804B	7	89327434	Nonsense_Mutation	SNP	C	C3L-01632_TP	62153986	89327434	70018539	85	7678											
PDK4	0	.	GRCh38	chr7	95589678	95589678	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catatgatggaggtgagaagGaacatacacgatgtgaattg	15	9	13	4	1	0	3	0	3	0	1	0	7	0	5	0	3	2	0	0	3	5	3			C3L-01632_TP	C3L-01632_NB	G	G																c.733C>G	p.Pro245Ala	p.P245A	ENST00000005178	7/11	73	69	4	122	122	0	varscan-mutect	PDK4,missense_variant,p.Pro245Ala,ENST00000005178,NM_002612.3;PDK4,non_coding_transcript_exon_variant,,ENST00000473796,;PDK4,non_coding_transcript_exon_variant,,ENST00000498190,;PDK4,upstream_gene_variant,,ENST00000468445,;	C	ENST00000005178	Transcript	missense_variant	931/3576	733/1236	245/411	P/A	Cct/Gct	COSM5536892	1		-1	PDK4	HGNC	HGNC:8812	protein_coding	YES	CCDS5643.1	ENSP00000005178	Q16654	A4D1H4	UPI000000D984	NM_002612.3	deleterious(0)		7/11		PROSITE_profiles:PS50109,hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF22,Gene3D:3.30.565.10,Pfam_domain:PF02518,SMART_domains:SM00387,Superfamily_domains:SSF55874											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	24	95589678	95589678	G	C	1	0	0	0	0	1	0	0	0	11766	1174	41	4		4	PDK4	7	95589678	Missense_Mutation	SNP	G	C3L-01632_TP	6262244	95589678	63756295	86	7679											
TECPR1	0	.	GRCh38	chr7	98241161	98241161	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgtggggcccacagctgatCtgaaccacctccccgggggt	6	7	13	15	2	1	2	0	2	1	0	3	2	2	2	5	4	2	1	5	4	1	0	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.741G>C	p.Gln247His	p.Q247H	ENST00000447648	7/26	99	75	24	217	217	0	strelka-varscan-mutect	TECPR1,missense_variant,p.Gln247His,ENST00000447648,NM_015395.2;TECPR1,downstream_gene_variant,,ENST00000420697,;TECPR1,downstream_gene_variant,,ENST00000423128,;TECPR1,downstream_gene_variant,,ENST00000415086,;TECPR1,intron_variant,,ENST00000471397,;TECPR1,downstream_gene_variant,,ENST00000472845,;TECPR1,non_coding_transcript_exon_variant,,ENST00000463648,;	G	ENST00000447648	Transcript	missense_variant	1041/6564	741/3498	247/1165	Q/H	caG/caC		1		-1	TECPR1	HGNC	HGNC:22214	protein_coding	YES	CCDS47648.1	ENSP00000404923	Q7Z6L1		UPI0000161940	NM_015395.2	deleterious(0)		7/26		Gene3D:2.130.10.30,hmmpanther:PTHR23250,hmmpanther:PTHR23250:SF1,SMART_domains:SM00706																	MODERATE	1	SNV	1			1										PASS		rs1213591165	.												G	3	3	24	98241161	98241161	C	G	1	0	0	0	0	1	0	0	0	16154	912	32	4		4	TECPR1	7	98241161	Missense_Mutation	SNP	C	C3L-01632_TP	2651483	98241161	61104812	87	7680											
CHRM2	0	.	GRCh38	chr7	137015760	137015760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcctctaatatgagagatGatgaaataacccaggatgaa	16	10	9	6	0	1	5	0	4	1	1	1	7	1	6	2	1	2	0	2	1	5	4	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.895G>A	p.Asp299Asn	p.D299N	ENST00000445907	3/3	173	153	20	282	282	0	strelka-varscan-mutect	CHRM2,missense_variant,p.Asp299Asn,ENST00000445907,NM_001006630.1,NM_001006627.1;CHRM2,missense_variant,p.Asp299Asn,ENST00000401861,NM_000739.2,NM_001006626.1,NM_001006628.1;CHRM2,missense_variant,p.Asp299Asn,ENST00000453373,NM_001006631.1,NM_001006629.1;CHRM2,missense_variant,p.Asp299Asn,ENST00000320658,NM_001006632.1;AC009264.1,intron_variant,,ENST00000439694,;AC009264.1,intron_variant,,ENST00000425981,;AC009264.1,intron_variant,,ENST00000586239,;AC009264.1,intron_variant,,ENST00000597642,;AC009264.1,intron_variant,,ENST00000598184,;AC009264.1,intron_variant,,ENST00000593789,;AC009264.1,intron_variant,,ENST00000592183,;	A	ENST00000445907	Transcript	missense_variant	1423/5918	895/1401	299/466	D/N	Gat/Aat		1		1	CHRM2	HGNC	HGNC:1951	protein_coding	YES	CCDS5843.1	ENSP00000399745	P08172	A4D1Q0	UPI0000050410	NM_001006630.1,NM_001006627.1	tolerated(0.37)		3/3		Pfam_domain:PF00001,Prints_domain:PR00539,PROSITE_profiles:PS50262,SMART_domains:SM01381																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	137015760	137015760	G	A	1	0	0	0	0	1	0	0	0	3137	1290	45	3		3	CHRM2	7	137015760	Missense_Mutation	SNP	G	C3L-01632_TP	38774599	137015760	22330213	88	7681											
MGAM	0	.	GRCh38	chr7	142047809	142047809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaccctcttggtcttatCattgccctagatgagaacaa	13	11	7	10	0	3	3	1	1	2	3	3	4	3	3	2	1	3	0	2	1	6	4	rs747370287		C3L-01632_TP	C3L-01632_NB	C	C																c.2523C>G	p.Ile841Met	p.I841M	ENST00000549489	22/48	312	250	62	438	438	0	strelka-varscan-mutect	MGAM,missense_variant,p.Ile841Met,ENST00000475668,;MGAM,missense_variant,p.Ile841Met,ENST00000549489,NM_004668.2;MGAM,missense_variant,p.Ile841Met,ENST00000620571,;	G	ENST00000549489	Transcript	missense_variant	2618/6525	2523/5574	841/1857	I/M	atC/atG	rs747370287	1		1	MGAM	HGNC	HGNC:7043	protein_coding	YES	CCDS47727.1	ENSP00000447378	O43451		UPI000183CB7B	NM_004668.2	deleterious(0)		22/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF63																	MODERATE	1	SNV	1			1										PASS		rs747370287	.												G	3	3	24	142047809	142047809	C	G	1	0	0	0	0	1	0	0	0	9499	816	29	4		4	MGAM	7	142047809	Missense_Mutation	SNP	C	C3L-01632_TP	5032049	142047809	17298164	89	7682											
MGAM	0	.	GRCh38	chr7	142066692	142066692	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggcccacacggagggCgtcactgttgtgcggcctct	8	7	13	13	3	2	0	1	0	1	0	2	1	2	1	2	4	1	1	2	4	2	1	rs531387144		C3L-01632_TP	C3L-01632_NB	C	C																c.4890C>A	p.=	p.G1630G	ENST00000475668	41/71	165	127	38	254	254	0	strelka-varscan-mutect	MGAM,synonymous_variant,p.=,ENST00000475668,;MGAM,intron_variant,,ENST00000549489,NM_004668.2;MGAM,intron_variant,,ENST00000620571,;	A	ENST00000475668	Transcript	synonymous_variant	4944/9172	4890/8262	1630/2753	G	ggC/ggA	rs531387144,COSM2862417	1		1	MGAM	HGNC	HGNC:7043	protein_coding			ENSP00000417515		E7ER45	UPI0002B832FC				41/71		Pfam_domain:PF01055,Superfamily_domains:SSF51445											0,1						LOW		SNV	5		0,1	1										PASS		rs531387144	.												A	2	1	24	142066692	142066692	C	A	1	0	0	0	0	0	0	0	1	9499	755	27	1		1	MGAM	7	142066692	Silent	SNP	C	C3L-01632_TP	18883	142066692	17279281	90	7683											
CNTNAP2	0	.	GRCh38	chr7	146839835	146839835	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagctcagattgggtgacCcaataccggatgctctacag	11	8	11	11	1	2	2	1	1	1	1	2	3	2	3	2	2	5	3	2	2	3	3	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.333C>A	p.=	p.T111T	ENST00000361727	3/24	243	218	25	378	378	0	strelka-varscan-mutect	CNTNAP2,synonymous_variant,p.=,ENST00000361727,NM_014141.5;CNTNAP2,synonymous_variant,p.=,ENST00000625365,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637694,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636561,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637150,;	A	ENST00000361727	Transcript	synonymous_variant	851/9896	333/3996	111/1331	T	acC/acA		1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5			3/24		Gene3D:2.60.120.260,Pfam_domain:PF00754,PROSITE_profiles:PS50022,SMART_domains:SM00231,Superfamily_domains:SSF49785																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	24	146839835	146839835	C	A	1	0	0	0	0	0	0	0	1	3428	610	22	2		2	CNTNAP2	7	146839835	Silent	SNP	C	C3L-01632_TP	4773143	146839835	12506138	91	7684											
CNTNAP2	0	.	GRCh38	chr7	148383816	148383816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggtggagtccaactgcGgggcctcgccgctgaccctc	5	7	14	15	3	0	1	0	1	0	0	3	2	1	2	4	4	3	2	4	4	1	0	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.3643G>T	p.Gly1215Trp	p.G1215W	ENST00000361727	22/24	205	167	38	356	356	0	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Gly1215Trp,ENST00000361727,NM_014141.5;CNTNAP2,missense_variant,p.Gly274Trp,ENST00000628930,;CNTNAP2,5_prime_UTR_variant,,ENST00000463592,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636242,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636399,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637020,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000627772,;	T	ENST00000361727	Transcript	missense_variant	4161/9896	3643/3996	1215/1331	G/W	Ggg/Tgg		1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	deleterious(0)		22/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644																	MODERATE	1	SNV	1			1										PASS		rs1212113314	.												T	3	4	24	148383816	148383816	G	T	1	0	0	0	0	1	0	0	0	3428	1116	39	1		1	CNTNAP2	7	148383816	Missense_Mutation	SNP	G	C3L-01632_TP	1543981	148383816	10962157	92	7685											
AOC1	0	.	GRCh38	chr7	150861010	150861010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggacattcccaacacagCcacacctgggaactccgtgg	12	5	10	14	1	0	1	0	0	0	1	2	3	2	3	4	3	3	0	4	3	2	1	rs770606382		C3L-01632_TP	C3L-01632_NB	C	C																c.2114C>A	p.Ala705Asp	p.A705D	ENST00000416793	5/5	128	107	21	225	224	1	strelka-varscan-mutect	AOC1,missense_variant,p.Ala686Asp,ENST00000493429,;AOC1,missense_variant,p.Ala686Asp,ENST00000467291,;AOC1,missense_variant,p.Ala686Asp,ENST00000360937,NM_001091.3;AOC1,missense_variant,p.Ala705Asp,ENST00000416793,NM_001272072.1;AOC1,downstream_gene_variant,,ENST00000483043,;AOC1,downstream_gene_variant,,ENST00000460213,;AOC1,non_coding_transcript_exon_variant,,ENST00000480582,;	A	ENST00000416793	Transcript	missense_variant	2174/2453	2114/2313	705/770	A/D	gCc/gAc	rs770606382	1		1	AOC1	HGNC	HGNC:80	protein_coding	YES	CCDS64797.1	ENSP00000411613	P19801		UPI000020F2D0	NM_001272072.1	deleterious(0)		5/5		hmmpanther:PTHR10638:SF3,hmmpanther:PTHR10638,Pfam_domain:PF01179,Gene3D:2.70.98.20,Superfamily_domains:SSF49998																	MODERATE	1	SNV	1			1										PASS		rs770606382	.												A	3	1	24	150861010	150861010	C	A	1	0	0	0	0	1	0	0	0	836	739	26	2		2	AOC1	7	150861010	Missense_Mutation	SNP	C	C3L-01632_TP	2477194	150861010	8484963	93	7686											
ANK1	0	.	GRCh38	chr8	41692856	41692856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacagcctcagcagtccgaGgacagtccgacagccaaaac	13	4	9	15	2	2	0	2	0	0	0	4	3	4	1	4	1	4	1	4	1	2	0	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.3773C>T	p.Pro1258Leu	p.P1258L	ENST00000265709	32/43	395	356	39	628	628	0	strelka-varscan-mutect	ANK1,missense_variant,p.Pro1217Leu,ENST00000289734,NM_000037.3;ANK1,missense_variant,p.Pro1217Leu,ENST00000347528,NM_020476.2,NM_020475.2,NM_020477.2;ANK1,missense_variant,p.Pro1258Leu,ENST00000265709,NM_001142446.1;ANK1,missense_variant,p.Pro539Leu,ENST00000520299,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,non_coding_transcript_exon_variant,,ENST00000524069,;ANK1,upstream_gene_variant,,ENST00000518061,;	A	ENST00000265709	Transcript	missense_variant	4055/6379	3773/5694	1258/1897	P/L	cCt/cTt		1		-1	ANK1	HGNC	HGNC:492	protein_coding	YES	CCDS47849.1	ENSP00000265709	P16157		UPI0000E4453A	NM_001142446.1	tolerated(0.07)		32/43		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	41692856	41692856	G	A	1	0	0	0	0	1	0	0	0	720	1000	35	3		3	ANK1	8	41692856	Missense_Mutation	SNP	G	C3L-01632_TP		41692856	103445780	94	7687											
CSMD3	0	.	GRCh38	chr8	112587142	112587142	+	Missense_Mutation	SNP	C	C	A																															ttcctgcttgaacctgaataCtataaatgcattcatggttg																										C3L-01632_TP	C3L-01632_NB	C	C																c.3809G>T	p.Ser1270Ile	p.S1270I	ENST00000297405	23/71	139	110	29	224	224	0	strelka-mutect	CSMD3,missense_variant,p.Ser1270Ile,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Ser1230Ile,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Ser1166Ile,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Ser610Ile,ENST00000339701,;	A	ENST00000297405	Transcript	missense_variant	4054/13212	3809/11124	1270/3707	S/I	aGt/aTt	COSM1645270,COSM1645271,COSM3951192,COSM3951193	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0.03)		23/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												A	3	1	24	112587142	112587142	C	A	1	0	0	0	0	1	0	0	0	3747	565	20	2		2	CSMD3	8	112587142	Missense_Mutation	SNP	C	C3L-01632_TP	70894286	112587142	32551494	95	7688	175	3									
CSMD3	0	.	GRCh38	chr8	112587143	112587143	+	Missense_Mutation	SNP	T	T	A																															tcctgcttgaacctgaatacTataaatgcattcatggttgt																								rs368012163		C3L-01632_TP	C3L-01632_NB	T	T																c.3808A>T	p.Ser1270Cys	p.S1270C	ENST00000297405	23/71	135	109	26	222	222	0	strelka-mutect	CSMD3,missense_variant,p.Ser1270Cys,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Ser1230Cys,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Ser1166Cys,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Ser610Cys,ENST00000339701,;	A	ENST00000297405	Transcript	missense_variant	4053/13212	3808/11124	1270/3707	S/C	Agt/Tgt	rs368012163	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		23/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		rs368012163	.												A	3	1	24	112587143	112587143	T	A	1	0	0	0	0	1	0	0	0	3747	1522	53	4		4	CSMD3	8	112587143	Missense_Mutation	SNP	T	C3L-01632_TP	1	112587143	32551493	96	7689	175	3									
CSMD3	0	.	GRCh38	chr8	112587144	112587144	+	Nonsense_Mutation	SNP	A	A	T																															cctgcttgaacctgaatactAtaaatgcattcatggttgtt																								novel		C3L-01632_TP	C3L-01632_NB	A	A																c.3807T>A	p.Tyr1269Ter	p.Y1269*	ENST00000297405	23/71	134	108	26	217	216	1	strelka-mutect	CSMD3,stop_gained,p.Tyr1269Ter,ENST00000297405,NM_198123.1;CSMD3,stop_gained,p.Tyr1229Ter,ENST00000343508,NM_198124.1;CSMD3,stop_gained,p.Tyr1165Ter,ENST00000455883,NM_052900.2;CSMD3,stop_gained,p.Tyr609Ter,ENST00000339701,;	T	ENST00000297405	Transcript	stop_gained	4052/13212	3807/11124	1269/3707	Y/*	taT/taA		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			23/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	24	112587144	112587144	A	T	1	0	0	0	0	0	1	0	0	3747	456	16	4		4	CSMD3	8	112587144	Nonsense_Mutation	SNP	A	C3L-01632_TP	1	112587144	32551492	97	7690	175	3									
ADCY8	0	.	GRCh38	chr8	131039950	131039950	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagtcaaggtgcaggaaGcccaggtcgcccccgcctcc	8	4	12	17	2	1	0	1	0	0	0	3	1	2	1	5	3	2	2	5	3	2	0			C3L-01632_TP	C3L-01632_NB	G	G																c.384C>A	p.=	p.G128G	ENST00000286355	1/18	87	68	19	195	195	0	strelka-varscan-mutect	ADCY8,synonymous_variant,p.=,ENST00000286355,NM_001115.2;ADCY8,synonymous_variant,p.=,ENST00000377928,;	T	ENST00000286355	Transcript	synonymous_variant	2477/5938	384/3756	128/1251	G	ggC/ggA	COSM4439238	1		-1	ADCY8	HGNC	HGNC:239	protein_coding	YES	CCDS6363.1	ENSP00000286355	P40145	A0A0K0K1K3	UPI000012887C	NM_001115.2			1/18		hmmpanther:PTHR11920:SF320,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050											1						LOW	1	SNV	1		1	1										PASS		rs991369629	.												T	2	4	24	131039950	131039950	G	T	1	0	0	0	0	0	0	0	1	344	958	34	2		2	ADCY8	8	131039950	Silent	SNP	G	C3L-01632_TP	18452806	131039950	14098686	98	7691											
PLEC	0	.	GRCh38	chr8	143929186	143929186	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagcgcagcgtgggggcCgcaggcgatggctctggtag	5	6	19	11	5	1	0	0	0	1	0	2	2	2	0	2	5	2	4	2	5	1	1	rs376090972		C3L-01632_TP	C3L-01632_NB	C	C																c.3588G>T	p.=	p.A1196A	ENST00000322810	25/32	174	122	52	241	241	0	strelka-varscan-mutect	PLEC,synonymous_variant,p.=,ENST00000322810,NM_201380.3;PLEC,synonymous_variant,p.=,ENST00000345136,NM_201384.2;PLEC,synonymous_variant,p.=,ENST00000436759,NM_000445.4;PLEC,synonymous_variant,p.=,ENST00000354958,NM_201379.2;PLEC,synonymous_variant,p.=,ENST00000354589,NM_201382.3;PLEC,synonymous_variant,p.=,ENST00000357649,NM_201383.2;PLEC,synonymous_variant,p.=,ENST00000356346,NM_201378.3;PLEC,synonymous_variant,p.=,ENST00000398774,NM_201381.2;PLEC,synonymous_variant,p.=,ENST00000527096,;PLEC,downstream_gene_variant,,ENST00000528025,;PLEC,upstream_gene_variant,,ENST00000527303,;	A	ENST00000322810	Transcript	synonymous_variant	3758/15249	3588/14055	1196/4684	A	gcG/gcT	rs376090972	1		-1	PLEC	HGNC	HGNC:9069	protein_coding	YES	CCDS43772.1	ENSP00000323856	Q15149		UPI0000233FCD	NM_201380.3			25/32		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,SMART_domains:SM00150																	LOW	1	SNV	1			1										PASS		rs376090972	.												A	2	1	24	143929186	143929186	C	A	1	0	0	0	0	0	0	0	1	12145	639	23	1		1	PLEC	8	143929186	Silent	SNP	C	C3L-01632_TP	12889236	143929186	1209450	99	7692											
UNC13B	0	.	GRCh38	chr9	35231216	35231218	+	In_Frame_Del	DEL	TGT	TGT	-																															ttcctgggaacaggatttcaTgttgtaagtattttgcagca																								novel		C3L-01632_TP	C3L-01632_NB	TGT	TGT																c.152_152+2delTGT			ENST00000378495	3/39	93	78	15	145	145	0	sindel-varindel-pindel	UNC13B,inframe_deletion,,ENST00000635942,;UNC13B,inframe_deletion,,ENST00000619578,;UNC13B,inframe_deletion,,ENST00000378495,NM_006377.3;UNC13B,inframe_deletion,,ENST00000396787,;UNC13B,splice_region_variant,,ENST00000617908,;UNC13B,splice_region_variant,,ENST00000378496,;UNC13B,splice_region_variant,,ENST00000485086,;UNC13B,inframe_deletion,,ENST00000634487,;	-	ENST00000378495	Transcript	inframe_deletion,splice_region_variant	371-373/6303	149-151/4776	50-51/1591	MF/I	aTGTtt/att		1		1	UNC13B	HGNC	HGNC:12566	protein_coding	YES	CCDS6579.1	ENSP00000367756	O14795		UPI0000211336	NM_006377.3			3/39		Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10480,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	deletion	1	3		1										PASS		.	.												-	7	5	24	35231216	35231216	TGT	-	1	0	1	0	1	0	0	0	0	17509	1478	51	0		0	UNC13B	9	35231216	In_Frame_Del	DEL	TGT	C3L-01632_TP		35231216	103163501	100	7693											
SPAG8	0	.	GRCh38	chr9	35811651	35811651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacagggccaggattagaaCtatggtcagttgtagtgcaa	13	9	13	6	0	1	1	1	0	0	1	1	3	1	2	1	3	3	3	1	3	6	4	rs148749223		C3L-01632_TP	C3L-01632_NB	C	C																c.395G>A	p.Ser132Asn	p.S132N	ENST00000340291	2/8	142	128	14	340	340	0	strelka-varscan-mutect	SPAG8,missense_variant,p.Ser132Asn,ENST00000340291,NM_172312.1;SPAG8,missense_variant,p.Ser130Asn,ENST00000484764,;SPAG8,missense_variant,p.Ser132Asn,ENST00000396638,NM_001039592.1;SPAG8,missense_variant,p.Ser130Asn,ENST00000497810,;NPR2,downstream_gene_variant,,ENST00000342694,NM_003995.3;TMEM8B,upstream_gene_variant,,ENST00000377996,;NPR2,downstream_gene_variant,,ENST00000421267,;HINT2,downstream_gene_variant,,ENST00000259667,NM_032593.2;NPR2,downstream_gene_variant,,ENST00000447210,;SPAG8,intron_variant,,ENST00000463889,;HINT2,downstream_gene_variant,,ENST00000474908,;SPAG8,upstream_gene_variant,,ENST00000479751,;HINT2,downstream_gene_variant,,ENST00000474848,;HINT2,downstream_gene_variant,,ENST00000461169,;HINT2,downstream_gene_variant,,ENST00000490578,;SPAG8,upstream_gene_variant,,ENST00000489063,;HINT2,downstream_gene_variant,,ENST00000472085,;HINT2,downstream_gene_variant,,ENST00000471774,;SPAG8,missense_variant,p.Ser132Asn,ENST00000475644,;SPAG8,intron_variant,,ENST00000472605,;SPAG8,intron_variant,,ENST00000495667,;SPAG8,intron_variant,,ENST00000471631,;FAM221B,downstream_gene_variant,,ENST00000388950,;NPR2,downstream_gene_variant,,ENST00000464810,;NPR2,downstream_gene_variant,,ENST00000448821,;SPAG8,upstream_gene_variant,,ENST00000460836,;NPR2,downstream_gene_variant,,ENST00000469249,;	T	ENST00000340291	Transcript	missense_variant	520/1759	395/1506	132/501	S/N	aGt/aAt	rs148749223	1		-1	SPAG8	HGNC	HGNC:14105	protein_coding	YES	CCDS6592.1	ENSP00000340982	Q99932		UPI000013E78B	NM_172312.1	tolerated_low_confidence(0.1)		2/8		Low_complexity_(Seg):seg,hmmpanther:PTHR15510																	MODERATE	1	SNV	1			1										PASS		rs148749223	.												T	3	4	24	35811651	35811651	C	T	1	0	0	0	0	1	0	0	0	15315	565	20	3		3	SPAG8	9	35811651	Missense_Mutation	SNP	C	C3L-01632_TP	580435	35811651	102583066	101	7694											
RECK	0	.	GRCh38	chr9	36109996	36109996	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattgactgcaatgtctgttCttgttttgctggcaatttgg	6	19	10	6	0	2	1	0	1	2	0	2	1	2	1	0	2	2	5	0	2	3	7	rs749734137		C3L-01632_TP	C3L-01632_NB	C	C																c.1805C>G	p.Ser602Cys	p.S602C	ENST00000377966	15/21	77	68	9	136	136	0	strelka-varscan-mutect	RECK,missense_variant,p.Ser602Cys,ENST00000377966,NM_021111.2;	G	ENST00000377966	Transcript	missense_variant	2371/4888	1805/2916	602/971	S/C	tCt/tGt	rs749734137	1		1	RECK	HGNC	HGNC:11345	protein_coding	YES	CCDS6597.1	ENSP00000367202	O95980		UPI0000133587	NM_021111.2	deleterious(0.01)		15/21		hmmpanther:PTHR13487																	MODERATE	1	SNV	1			1										PASS		rs749734137	.												G	3	3	24	36109996	36109996	C	G	1	0	0	0	0	1	0	0	0	13370	913	32	4		4	RECK	9	36109996	Missense_Mutation	SNP	C	C3L-01632_TP	298345	36109996	102284721	102	7695											
ZBTB5	0	.	GRCh38	chr9	37441863	37441863	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctggtgaaaagaactccTcccgagaatgaacccctgaa	15	7	8	11	1	1	5	0	3	1	2	3	6	3	5	4	1	2	0	4	1	7	0	novel		C3L-01632_TP	C3L-01632_NB	T	T																c.689A>C	p.Glu230Ala	p.E230A	ENST00000307750	2/2	198	180	18	448	446	2	strelka-varscan-mutect	ZBTB5,missense_variant,p.Glu230Ala,ENST00000307750,NM_014872.2;GRHPR,downstream_gene_variant,,ENST00000318158,NM_012203.1;GRHPR,downstream_gene_variant,,ENST00000497693,;GRHPR,downstream_gene_variant,,ENST00000480596,;GRHPR,downstream_gene_variant,,ENST00000494290,;	G	ENST00000307750	Transcript	missense_variant	878/4627	689/2034	230/677	E/A	gAg/gCg		1		-1	ZBTB5	HGNC	HGNC:23836	protein_coding	YES	CCDS6610.1	ENSP00000307604	O15062	Q5T942	UPI000006FAE2	NM_014872.2	tolerated(0.12)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	24	37441863	37441863	T	G	1	0	0	0	0	1	0	0	0	18121	1551	54	5		5	ZBTB5	9	37441863	Missense_Mutation	SNP	T	C3L-01632_TP	1331867	37441863	100952854	103	7696											
TLE1	0	.	GRCh38	chr9	81600098	81600098	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaacttctcaatgtgcTggggcaggaacaaggctcct	10	10	10	11	0	1	0	1	0	1	0	4	1	3	1	2	4	3	3	2	4	4	2	novel		C3L-01632_TP	C3L-01632_NB	T	T																c.375A>T	p.=	p.P125P	ENST00000376484	4/4	126	102	24	193	193	0	strelka-varscan-mutect	TLE1,synonymous_variant,p.=,ENST00000376484,;TLE1,intron_variant,,ENST00000376499,NM_005077.4,NM_001303104.1,NM_001303103.1;	A	ENST00000376484	Transcript	synonymous_variant	433/666	375/384	125/127	P	ccA/ccT		1		-1	TLE1	HGNC	HGNC:11837	protein_coding			ENSP00000365667		F6T2C8	UPI000046FE90				4/4																			LOW		SNV	3			1										PASS		.	.												A	2	1	24	81600098	81600098	T	A	1	0	0	0	0	0	0	0	1	16384	1567	55	4		4	TLE1	9	81600098	Silent	SNP	T	C3L-01632_TP	44158235	81600098	56794619	104	7697											
SPTLC1	0	.	GRCh38	chr9	92038284	92038284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcagtctgacatcttgCtcgcgagacccagtgctctc	8	10	10	13	2	3	3	0	2	3	1	5	4	3	3	1	0	3	3	1	0	1	1	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.1218G>T	p.Glu406Asp	p.E406D	ENST00000262554	13/15	310	249	61	450	450	0	strelka-varscan-mutect	SPTLC1,missense_variant,p.Glu406Asp,ENST00000262554,NM_006415.3,NM_001281303.1;SPTLC1,non_coding_transcript_exon_variant,,ENST00000469778,;	A	ENST00000262554	Transcript	missense_variant	1224/1894	1218/1422	406/473	E/D	gaG/gaT		1		-1	SPTLC1	HGNC	HGNC:11277	protein_coding	YES	CCDS6692.1	ENSP00000262554	O15269	A0A024R277	UPI000012E27B	NM_006415.3,NM_001281303.1	tolerated(0.43)		13/15		hmmpanther:PTHR13693:SF2,hmmpanther:PTHR13693,Pfam_domain:PF00155,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	92038284	92038284	C	A	1	0	0	0	0	1	0	0	0	15479	796	28	2		2	SPTLC1	9	92038284	Missense_Mutation	SNP	C	C3L-01632_TP	10438186	92038284	46356433	105	7698											
TUBAL3	0	.	GRCh38	chr10	5393865	5393865	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctgcattcacttccttgggGaccacatcccctctatagag	8	11	8	14	0	2	1	1	0	1	1	4	2	4	2	4	2	1	2	4	2	2	5	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.993C>G	p.=	p.V331V	ENST00000380419	4/4	201	158	43	273	273	0	strelka-varscan-mutect	TUBAL3,synonymous_variant,p.=,ENST00000380419,NM_024803.2;TUBAL3,synonymous_variant,p.=,ENST00000479328,NM_001171864.1;	C	ENST00000380419	Transcript	synonymous_variant	1031/1798	993/1341	331/446	V	gtC/gtG		1		-1	TUBAL3	HGNC	HGNC:23534	protein_coding	YES	CCDS7066.2	ENSP00000369784	A6NHL2		UPI00000497AE	NM_024803.2			4/4		hmmpanther:PTHR11588:SF130,hmmpanther:PTHR11588,Gene3D:3.30.1330.20,Pfam_domain:PF03953,SMART_domains:SM00865,Superfamily_domains:SSF55307,Prints_domain:PR01162																	LOW	1	SNV	1			1										PASS		rs947999143	.												C	2	2	24	5393865	5393865	G	C	1	0	0	0	0	0	0	0	1	17262	1161	41	4		4	TUBAL3	10	5393865	Silent	SNP	G	C3L-01632_TP		5393865	128403557	106	7699											
PFKFB3	0	.	GRCh38	chr10	6232922	6232922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggctcccggagcagcgctGactcctccaggaaacactga	11	5	11	14	2	0	2	0	2	0	0	3	4	3	4	3	3	3	3	3	3	2	0	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1585G>A	p.Asp529Asn	p.D529N	ENST00000536985	15/15	131	119	12	205	205	0	strelka-varscan-mutect	PFKFB3,missense_variant,p.Asp515Asn,ENST00000379775,NM_001323016.1,NM_004566.3;PFKFB3,missense_variant,p.Asp529Asn,ENST00000536985,NM_001282630.1;PFKFB3,missense_variant,p.Asp495Asn,ENST00000379789,NM_001145443.1;PFKFB3,missense_variant,p.Asp138Asn,ENST00000450232,;PFKFB3,missense_variant,p.Asp26Asn,ENST00000441697,;PFKFB3,3_prime_UTR_variant,,ENST00000379785,;PFKFB3,3_prime_UTR_variant,,ENST00000360521,;PFKFB3,3_prime_UTR_variant,,ENST00000414237,;PFKFB3,downstream_gene_variant,,ENST00000317350,;PFKFB3,downstream_gene_variant,,ENST00000626882,;PFKFB3,3_prime_UTR_variant,,ENST00000467491,;PFKFB3,3_prime_UTR_variant,,ENST00000490474,;PFKFB3,3_prime_UTR_variant,,ENST00000477914,;PFKFB3,3_prime_UTR_variant,,ENST00000475881,;PFKFB3,downstream_gene_variant,,ENST00000461744,;	A	ENST00000536985	Transcript	missense_variant	1648/4271	1585/1605	529/534	D/N	Gac/Aac		1		1	PFKFB3	HGNC	HGNC:8874	protein_coding	YES	CCDS60479.1	ENSP00000443319	Q16875		UPI0001915356	NM_001282630.1			15/15																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	24	6232922	6232922	G	A	1	0	0	0	0	1	0	0	0	11852	1290	45	3		3	PFKFB3	10	6232922	Missense_Mutation	SNP	G	C3L-01632_TP	839057	6232922	127564500	107	7700											
ARMC3	0	.	GRCh38	chr10	22981652	22981652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaggtacgggaagcagCagctctagccctggcaaacc	12	5	13	11	1	1	2	0	1	1	1	1	3	1	3	2	3	6	5	2	3	5	2	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.1127C>T	p.Ala376Val	p.A376V	ENST00000298032	10/19	183	162	21	218	218	0	strelka-varscan-mutect	ARMC3,missense_variant,p.Ala113Val,ENST00000376528,NM_001282747.1;ARMC3,missense_variant,p.Ala376Val,ENST00000298032,NM_173081.4;ARMC3,missense_variant,p.Ala376Val,ENST00000409983,NM_001282745.1;ARMC3,missense_variant,p.Ala376Val,ENST00000409049,NM_001282746.1;ARMC3,downstream_gene_variant,,ENST00000484642,;ARMC3,downstream_gene_variant,,ENST00000496741,;	T	ENST00000298032	Transcript	missense_variant	1211/2811	1127/2619	376/872	A/V	gCa/gTa		1		1	ARMC3	HGNC	HGNC:30964	protein_coding	YES	CCDS7142.1	ENSP00000298032	Q5W041		UPI0000161785	NM_173081.4	deleterious(0.04)		10/19		Low_complexity_(Seg):seg,PROSITE_profiles:PS50176,hmmpanther:PTHR23315:SF78,hmmpanther:PTHR23315,Gene3D:1.25.10.10,Pfam_domain:PF13646,SMART_domains:SM00185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	24	22981652	22981652	C	T	1	0	0	0	0	1	0	0	0	1093	710	25	3		3	ARMC3	10	22981652	Missense_Mutation	SNP	C	C3L-01632_TP	16748730	22981652	110815770	108	7701											
KIAA1217	0	.	GRCh38	chr10	24543519	24543519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatacagacggttaatatcGatgccagaaaagagatgacc	17	7	9	8	2	0	4	0	1	0	3	1	6	0	4	2	1	2	1	2	1	5	3	rs200657746		C3L-01632_TP	C3L-01632_NB	G	G																c.4249G>A	p.Asp1417Asn	p.D1417N	ENST00000376454	19/21	256	223	33	357	356	1	strelka-varscan-mutect	KIAA1217,missense_variant,p.Asp1100Asn,ENST00000376451,;KIAA1217,missense_variant,p.Asp1417Asn,ENST00000376454,NM_019590.4;KIAA1217,missense_variant,p.Asp300Asn,ENST00000635163,;KIAA1217,intron_variant,,ENST00000376462,NM_001098500.2;KIAA1217,intron_variant,,ENST00000376452,NM_001282767.1;KIAA1217,intron_variant,,ENST00000458595,NM_001282768.1;KIAA1217,intron_variant,,ENST00000430453,;KIAA1217,intron_variant,,ENST00000396445,;KIAA1217,intron_variant,,ENST00000307544,NM_001282769.1;KIAA1217,intron_variant,,ENST00000396446,NM_001282770.1;KIAA1217,non_coding_transcript_exon_variant,,ENST00000492009,;	A	ENST00000376454	Transcript	missense_variant	4279/7381	4249/5832	1417/1943	D/N	Gat/Aat	rs200657746,COSM917126	1		1	KIAA1217	HGNC	HGNC:25428	protein_coding	YES	CCDS31165.1	ENSP00000365637	Q5T5P2		UPI000013EC2A	NM_019590.4	tolerated(0.06)		19/21		hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs200657746	.												A	3	1	24	24543519	24543519	G	A	1	0	0	0	0	1	0	0	0	8109	1058	37	1		1	KIAA1217	10	24543519	Missense_Mutation	SNP	G	C3L-01632_TP	1561867	24543519	109253903	109	7702											
ARHGAP21	0	.	GRCh38	chr10	24584567	24584567	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatggaaagaaggggccTgtttgttgaagccaaggtgc	10	10	16	5	0	0	2	0	1	0	1	0	3	0	3	2	5	2	3	2	5	5	3	novel		C3L-01632_TP	C3L-01632_NB	T	T																c.5722A>T	p.Arg1908Trp	p.R1908W	ENST00000396432	26/26	213	194	19	270	269	1	varscan-mutect	ARHGAP21,missense_variant,p.Arg1908Trp,ENST00000396432,NM_020824.3;ARHGAP21,missense_variant,p.Arg1356Trp,ENST00000612832,;ARHGAP21,missense_variant,p.Arg1357Trp,ENST00000320481,;ARHGAP21,downstream_gene_variant,,ENST00000636789,;ARHGAP21,downstream_gene_variant,,ENST00000418033,;ARHGAP21,3_prime_UTR_variant,,ENST00000638156,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000486374,;ARHGAP21,downstream_gene_variant,,ENST00000477190,;	A	ENST00000396432	Transcript	missense_variant	6209/7167	5722/5877	1908/1958	R/W	Agg/Tgg		1		-1	ARHGAP21	HGNC	HGNC:23725	protein_coding	YES	CCDS7144.2	ENSP00000379709	Q5T5U3		UPI0001639C78	NM_020824.3	deleterious_low_confidence(0.01)		26/26		hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	24584567	24584567	T	A	1	0	0	0	0	1	0	0	0	995	1579	55	4		4	ARHGAP21	10	24584567	Missense_Mutation	SNP	T	C3L-01632_TP	41048	24584567	109212855	110	7703											
MTPAP	0	.	GRCh38	chr10	30349262	30349262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacgggtcaagagccccacgCcgggaaccgccattgctaaa	12	4	11	14	4	1	1	1	0	0	1	1	2	1	2	5	2	4	1	5	2	5	2	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.14G>A	p.Gly5Asp	p.G5D	ENST00000263063	1/9	242	206	36	376	376	0	strelka-varscan-mutect	MTPAP,missense_variant,p.Gly5Asp,ENST00000263063,NM_018109.3;MTPAP,upstream_gene_variant,,ENST00000417581,;MTPAP,upstream_gene_variant,,ENST00000421701,;MTPAP,intron_variant,,ENST00000488290,;DNM1P17,upstream_gene_variant,,ENST00000512082,;	T	ENST00000263063	Transcript	missense_variant	58/5601	14/1749	5/582	G/D	gGc/gAc		1		-1	MTPAP	HGNC	HGNC:25532	protein_coding	YES	CCDS7165.1	ENSP00000263063	Q9NVV4		UPI0000070081	NM_018109.3	deleterious_low_confidence(0.01)		1/9																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	24	30349262	30349262	C	T	1	0	0	0	0	1	0	0	0	9942	739	26	3		3	MTPAP	10	30349262	Missense_Mutation	SNP	C	C3L-01632_TP	5764695	30349262	103448160	111	7704											
GDF2	0	.	GRCh38	chr10	47324972	47324972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctcctgtcaaaatcacGtggacccctctcatgacctg	9	11	7	14	1	4	1	3	1	2	0	6	2	4	2	4	1	0	0	4	1	2	0	rs144705412		C3L-01632_TP	C3L-01632_NB	G	G																c.478G>T	p.Val160Leu	p.V160L	ENST00000581492	2/2	328	280	48	500	499	1	strelka-varscan-mutect	GDF2,missense_variant,p.Val160Leu,ENST00000581492,NM_016204.2;	T	ENST00000581492	Transcript	missense_variant	657/1955	478/1290	160/429	V/L	Gtg/Ttg	rs144705412	1		1	GDF2	HGNC	HGNC:4217	protein_coding	YES	CCDS73118.1	ENSP00000463051	Q9UK05		UPI000012B394	NM_016204.2	tolerated(0.36)		2/2		hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF157,Pfam_domain:PF00688																	MODERATE	1	SNV	1			1										PASS		rs144705412	.												T	3	4	24	47324972	47324972	G	T	1	0	0	0	0	1	0	0	0	6186	1145	40	1		1	GDF2	10	47324972	Missense_Mutation	SNP	G	C3L-01632_TP	16975710	47324972	86472450	112	7705											
TSPAN14	0	.	GRCh38	chr10	80509361	80509361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggccgtgctggccttcCtgttccaggactgggtgagg	3	11	16	11	1	0	1	0	1	0	0	2	2	2	2	4	5	1	2	4	5	0	2	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.340C>T	p.=	p.L114L	ENST00000429989	5/9	269	195	74	346	346	0	strelka-varscan-mutect	TSPAN14,synonymous_variant,p.=,ENST00000429989,NM_030927.2;TSPAN14,synonymous_variant,p.=,ENST00000372164,;TSPAN14,synonymous_variant,p.=,ENST00000616406,;TSPAN14,synonymous_variant,p.=,ENST00000372156,;TSPAN14,synonymous_variant,p.=,ENST00000372158,;TSPAN14,synonymous_variant,p.=,ENST00000372157,;TSPAN14,intron_variant,,ENST00000341863,;TSPAN14,intron_variant,,ENST00000481124,NM_001128309.1;TSPAN14,non_coding_transcript_exon_variant,,ENST00000469149,;	T	ENST00000429989	Transcript	synonymous_variant	563/16183	340/813	114/270	L	Ctg/Ttg		1		1	TSPAN14	HGNC	HGNC:23303	protein_coding	YES	CCDS7369.1	ENSP00000396270	Q8NG11		UPI000004ACAE	NM_030927.2			5/9		Superfamily_domains:0037997,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF256,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	24	80509361	80509361	C	T	1	0	0	0	0	0	0	0	1	17143	680	24	3		3	TSPAN14	10	80509361	Silent	SNP	C	C3L-01632_TP	33184389	80509361	53288061	113	7706											
NUTM2A	0	.	GRCh38	chr10	87234555	87234555	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctctttggaagcctgtcCcctgctgaaaagacacccca	9	9	7	16	0	1	2	0	1	1	1	3	3	2	3	6	1	2	1	6	1	3	1	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.2484C>A	p.=	p.S828S	ENST00000381707	7/7	176	143	33	203	203	0	strelka-varscan-mutect	NUTM2A,synonymous_variant,p.=,ENST00000381707,NM_001099338.1;NUTM2A,intron_variant,,ENST00000381689,;NUTM2A-AS1,intron_variant,,ENST00000451940,;NUTM2A-AS1,downstream_gene_variant,,ENST00000433920,;NUTM2A-AS1,downstream_gene_variant,,ENST00000447424,;NUTM2A-AS1,downstream_gene_variant,,ENST00000456104,;NUTM2A-AS1,downstream_gene_variant,,ENST00000433530,;	A	ENST00000381707	Transcript	synonymous_variant	2867/3290	2484/2637	828/878	S	tcC/tcA		1		1	NUTM2A	HGNC	HGNC:23438	protein_coding	YES	CCDS44452.1	ENSP00000371126	Q8IVF1		UPI00001B6532	NM_001099338.1			7/7		Pfam_domain:PF12881,hmmpanther:PTHR22879																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	24	87234555	87234555	C	A	1	0	0	0	0	0	0	0	1	10847	610	22	2		2	NUTM2A	10	87234555	Silent	SNP	C	C3L-01632_TP	6725194	87234555	46562867	114	7707											
LGI1	0	.	GRCh38	chr10	93758211	93758211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaagaattgcttatttcCtatgtctcttatctgcgctt	9	18	6	8	1	2	2	0	1	2	1	4	2	3	2	1	0	2	2	1	0	6	6			C3L-01632_TP	C3L-01632_NB	C	C																c.67C>A	p.Leu23Ile	p.L23I	ENST00000371418	1/8	521	387	134	645	643	2	strelka-varscan-mutect	LGI1,missense_variant,p.Leu23Ile,ENST00000630184,;LGI1,missense_variant,p.Leu23Ile,ENST00000371418,NM_005097.2;LGI1,missense_variant,p.Leu23Ile,ENST00000629035,;LGI1,missense_variant,p.Leu23Ile,ENST00000630047,;LGI1,missense_variant,p.Leu23Ile,ENST00000636155,;LGI1,missense_variant,p.Leu23Ile,ENST00000371413,NM_001308275.1;LGI1,missense_variant,p.Leu23Ile,ENST00000627699,;LGI1,missense_variant,p.Leu23Ile,ENST00000478763,;LGI1,intron_variant,,ENST00000637689,;RP11-437J2.3,upstream_gene_variant,,ENST00000630034,;LGI1,upstream_gene_variant,,ENST00000637347,;LGI1,upstream_gene_variant,,ENST00000636683,;LGI1,upstream_gene_variant,,ENST00000636140,;LGI1,missense_variant,p.Leu23Ile,ENST00000637037,;LGI1,missense_variant,p.Leu23Ile,ENST00000635953,;LGI1,missense_variant,p.Leu23Ile,ENST00000627420,;LGI1,missense_variant,p.Leu23Ile,ENST00000637611,;LGI1,missense_variant,p.Leu23Ile,ENST00000636754,;LGI1,missense_variant,p.Leu23Ile,ENST00000636232,;LGI1,missense_variant,p.Leu23Ile,ENST00000637925,;LGI1,missense_variant,p.Leu23Ile,ENST00000638049,;LGI1,missense_variant,p.Leu23Ile,ENST00000636946,;LGI1,missense_variant,p.Leu23Ile,ENST00000630487,;	A	ENST00000371418	Transcript	missense_variant	403/2381	67/1674	23/557	L/I	Cta/Ata	COSM921623	1		1	LGI1	HGNC	HGNC:6572	protein_coding	YES	CCDS7431.1	ENSP00000360472	O95970	A0A0S2Z4S7	UPI0000048F03	NM_005097.2	tolerated(0.32)		1/8		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF17,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	24	93758211	93758211	C	A	1	0	0	0	0	1	0	0	0	8661	680	24	2		2	LGI1	10	93758211	Missense_Mutation	SNP	C	C3L-01632_TP	6523656	93758211	40039211	115	7708											
OR51F2	0	.	GRCh38	chr11	4821888	4821888	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgttgataagaaatgttgCcgtcatgttgccagtcatgc	10	13	10	8	1	2	2	2	1	0	1	2	2	2	2	2	0	3	3	2	0	2	4	rs752518921		C3L-01632_TP	C3L-01632_NB	C	C																c.503C>A	p.Ala168Asp	p.A168D	ENST00000322110	1/1	126	103	23	247	247	0	strelka-varscan-mutect	OR51F2,missense_variant,p.Ala168Asp,ENST00000322110,NM_001004753.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	A	ENST00000322110	Transcript	missense_variant	503/1029	503/1029	168/342	A/D	gCc/gAc	rs752518921	1		1	OR51F2	HGNC	HGNC:15197	protein_coding	YES	CCDS31361.1	ENSP00000323952	Q8NH61		UPI000004B219	NM_001004753.1	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF87,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs752518921	.												A	3	1	24	4821888	4821888	C	A	1	0	0	0	0	1	0	0	0	11170	739	26	2		2	OR51F2	11	4821888	Missense_Mutation	SNP	C	C3L-01632_TP		4821888	130264734	116	7709											
CCDC73	0	.	GRCh38	chr11	32642064	32642064	+	Frame_Shift_Del	DEL	C	C	-																															taccttctccctttgcagctCattatctctttcaagggtct																								novel		C3L-01632_TP	C3L-01632_NB	C	C																c.958delG	p.Glu320SerfsTer7	p.E320Sfs*7	ENST00000335185	13/18	82	66	16	158	158	0	sindel-varindel-pindel	CCDC73,frameshift_variant,p.Glu320SerfsTer7,ENST00000335185,NM_001008391.3;CCDC73,non_coding_transcript_exon_variant,,ENST00000534415,;	-	ENST00000335185	Transcript	frameshift_variant	1002/3849	958/3240	320/1079	E/X	Gag/ag		1		-1	CCDC73	HGNC	HGNC:23261	protein_coding	YES	CCDS41630.1	ENSP00000335325	Q6ZRK6		UPI000066725E	NM_001008391.3			13/18		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15818,hmmpanther:PTHR28660,hmmpanther:PTHR28660:SF1																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	24	32642064	32642064	C	-	1	0	1	0	1	0	0	0	0	2546	835	29	0		0	CCDC73	11	32642064	Frame_Shift_Del	DEL	C	C3L-01632_TP	27820176	32642064	102444558	117	7710											
ALX4	0	.	GRCh38	chr11	44264955	44264955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccgttgagctcgtagcCattgaggcctgggctgaggc	5	9	15	12	3	0	3	0	3	0	0	2	3	0	3	3	3	2	4	3	3	1	3	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.1135G>T	p.Gly379Cys	p.G379C	ENST00000329255	4/4	225	192	33	376	373	3	strelka-varscan-mutect	ALX4,missense_variant,p.Gly379Cys,ENST00000329255,NM_021926.3;	A	ENST00000329255	Transcript	missense_variant	1239/5750	1135/1236	379/411	G/C	Ggc/Tgc		1		-1	ALX4	HGNC	HGNC:450	protein_coding	YES	CCDS31468.1	ENSP00000332744	Q9H161		UPI000016A402	NM_021926.3	deleterious(0)		4/4		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF322																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	44264955	44264955	C	A	1	0	0	0	0	1	0	0	0	656	594	21	2		2	ALX4	11	44264955	Missense_Mutation	SNP	C	C3L-01632_TP	11622891	44264955	90821667	118	7711											
TRIM49B	0	.	GRCh38	chr11	49031749	49031749	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagacagcccatttcttgtCcagtgctctgaatgcacaaa	13	10	7	11	0	2	2	0	1	2	1	3	2	3	2	2	0	3	2	2	0	3	2	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.150C>A	p.=	p.V50V	ENST00000622138	3/8	376	293	83	664	663	1	strelka-varscan-mutect	TRIM49B,synonymous_variant,p.=,ENST00000622138,;TRIM49B,synonymous_variant,p.=,ENST00000332682,NM_001206626.1;	A	ENST00000622138	Transcript	synonymous_variant	479/2162	150/1359	50/452	V	gtC/gtA		1		1	TRIM49B	HGNC	HGNC:42955	protein_coding	YES	CCDS55762.1	ENSP00000481457	A6NDI0		UPI000013EEA1				3/8		PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,Pfam_domain:PF15227,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	24	49031749	49031749	C	A	1	0	0	0	0	0	0	0	1	17015	842	30	2		2	TRIM49B	11	49031749	Silent	SNP	C	C3L-01632_TP	4766794	49031749	86054873	119	7712											
TRIM49B	0	.	GRCh38	chr11	49032365	49032365	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaccaccagaaccagatgCtggaaggttagtcctgtact	13	8	10	10	0	0	2	0	0	0	2	1	4	1	3	4	2	4	3	4	2	5	2	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.501C>A	p.Cys167Ter	p.C167*	ENST00000622138	4/8	131	101	30	216	216	0	strelka-varscan-mutect	TRIM49B,stop_gained,p.Cys167Ter,ENST00000622138,;TRIM49B,stop_gained,p.Cys167Ter,ENST00000332682,NM_001206626.1;	A	ENST00000622138	Transcript	stop_gained	830/2162	501/1359	167/452	C/*	tgC/tgA		1		1	TRIM49B	HGNC	HGNC:42955	protein_coding	YES	CCDS55762.1	ENSP00000481457	A6NDI0		UPI000013EEA1				4/8		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	24	49032365	49032365	C	A	1	0	0	0	0	0	1	0	0	17015	805	28	2		2	TRIM49B	11	49032365	Nonsense_Mutation	SNP	C	C3L-01632_TP	616	49032365	86054257	120	7713											
OR5L2	0	.	GRCh38	chr11	55827357	55827357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagccaatctgggcatgactGcactgattcaggtcagctct	9	11	10	11	0	4	2	2	2	2	0	4	2	4	2	1	2	3	3	1	2	2	2	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.139G>T	p.Ala47Ser	p.A47S	ENST00000378397	1/1	202	165	37	324	324	0	strelka-varscan-mutect	OR5L2,missense_variant,p.Ala47Ser,ENST00000378397,NM_001004739.1;	T	ENST00000378397	Transcript	missense_variant	139/936	139/936	47/311	A/S	Gca/Tca		1		1	OR5L2	HGNC	HGNC:8351	protein_coding	YES	CCDS31511.1	ENSP00000367650	Q8NGL0		UPI0000041C49	NM_001004739.1	deleterious(0.04)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF368,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	24	55827357	55827357	G	T	1	0	0	0	0	1	0	0	0	11240	1319	46	2		2	OR5L2	11	55827357	Missense_Mutation	SNP	G	C3L-01632_TP	6794992	55827357	79259265	121	7714											
OR5F1	0	.	GRCh38	chr11	55993936	55993936	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgtgcctcccctccccCgaatgcatagaaaaaatgga	11	8	8	14	1	1	1	0	0	1	1	3	3	3	2	5	1	2	2	5	1	5	1	rs144082157		C3L-01632_TP	C3L-01632_NB	C	C																c.690G>C	p.=	p.S230S	ENST00000278409	1/1	145	125	20	212	212	0	strelka-varscan-mutect	OR5F1,synonymous_variant,p.=,ENST00000278409,NM_003697.1;	G	ENST00000278409	Transcript	synonymous_variant	690/945	690/945	230/314	S	tcG/tcC	rs144082157,COSM543307	1		-1	OR5F1	HGNC	HGNC:8343	protein_coding	YES	CCDS31515.1	ENSP00000278409	O95221		UPI0000041D19	NM_003697.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF168,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											0,1						LOW	1	SNV			0,1	1										PASS		rs144082157	.												G	2	3	24	55993936	55993936	C	G	1	0	0	0	0	0	0	0	1	11228	639	23	4		4	OR5F1	11	55993936	Silent	SNP	C	C3L-01632_TP	166579	55993936	79092686	122	7715											
OR5J2	0	.	GRCh38	chr11	56176693	56176693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgctgaactaaaagctGtgctttttgtggtgttcctg	8	16	10	7	0	1	1	1	1	0	0	2	1	2	1	1	1	4	4	1	1	3	4			C3L-01632_TP	C3L-01632_NB	G	G																c.76G>C	p.Val26Leu	p.V26L	ENST00000312298	1/1	119	103	16	178	178	0	strelka-varscan-mutect	OR5J2,missense_variant,p.Val26Leu,ENST00000312298,NM_001005492.1;	C	ENST00000312298	Transcript	missense_variant	76/939	76/939	26/312	V/L	Gtg/Ctg	COSM4962884	1		1	OR5J2	HGNC	HGNC:19612	protein_coding	YES	CCDS31522.1	ENSP00000310788	Q8NH18	A0A126GVP0	UPI000004B232	NM_001005492.1	tolerated(0.66)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR26452:SF343,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		rs1463945328	.												C	3	2	24	56176693	56176693	G	C	1	0	0	0	0	1	0	0	0	11235	1377	48	4		4	OR5J2	11	56176693	Missense_Mutation	SNP	G	C3L-01632_TP	182757	56176693	78909929	123	7716											
TCN1	0	.	GRCh38	chr11	59861592	59861592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagtggttgacaacttcgGcggttgagtagttcccattg	8	13	13	7	2	0	3	0	3	0	0	2	3	1	3	1	3	1	4	1	3	3	6	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.491C>A	p.Ala164Asp	p.A164D	ENST00000257264	4/9	395	344	51	570	569	1	strelka-varscan-mutect	TCN1,missense_variant,p.Ala164Asp,ENST00000257264,NM_001062.3;TCN1,non_coding_transcript_exon_variant,,ENST00000532419,;TCN1,non_coding_transcript_exon_variant,,ENST00000534531,;TCN1,non_coding_transcript_exon_variant,,ENST00000533734,;	T	ENST00000257264	Transcript	missense_variant	596/1582	491/1302	164/433	A/D	gCc/gAc		1		-1	TCN1	HGNC	HGNC:11652	protein_coding	YES	CCDS7978.1	ENSP00000257264	P20061		UPI000013CF55	NM_001062.3	deleterious(0.01)		4/9		Pfam_domain:PF01122,hmmpanther:PTHR10559,hmmpanther:PTHR10559:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	24	59861592	59861592	G	T	1	0	0	0	0	1	0	0	0	16113	1203	42	2		2	TCN1	11	59861592	Missense_Mutation	SNP	G	C3L-01632_TP	3684899	59861592	75225030	124	7717											
TMEM135	0	.	GRCh38	chr11	87038067	87038067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggccctcagcaagtccAtccctcataactgctatgag	9	9	9	14	1	2	1	2	1	0	0	4	1	4	1	3	2	3	2	3	2	3	2	novel		C3L-01632_TP	C3L-01632_NB	A	A																c.22A>G	p.Ile8Val	p.I8V	ENST00000305494	1/15	414	322	92	665	665	0	strelka-varscan-mutect	TMEM135,missense_variant,p.Ile8Val,ENST00000340353,NM_001168724.1;TMEM135,missense_variant,p.Ile8Val,ENST00000305494,NM_022918.3;TMEM135,missense_variant,p.Ile8Val,ENST00000525018,;TMEM135,missense_variant,p.Ile8Val,ENST00000526733,;TMEM135,5_prime_UTR_variant,,ENST00000532959,;TMEM135,non_coding_transcript_exon_variant,,ENST00000529023,;	G	ENST00000305494	Transcript	missense_variant	61/2433	22/1377	8/458	I/V	Atc/Gtc		1		1	TMEM135	HGNC	HGNC:26167	protein_coding	YES	CCDS8280.1	ENSP00000306344	Q86UB9		UPI00001FB0C7	NM_022918.3	tolerated(0.11)		1/15		hmmpanther:PTHR12459,hmmpanther:PTHR12459:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	24	87038067	87038067	A	G	1	0	0	0	0	1	0	0	0	16496	217	8	5		5	TMEM135	11	87038067	Missense_Mutation	SNP	A	C3L-01632_TP	27176475	87038067	48048555	125	7718											
FAT3	0	.	GRCh38	chr11	92810048	92810048	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccaaggctctgttgacCagagttcaagccgtggaccc	9	7	11	14	1	2	2	1	1	1	1	2	3	2	3	5	2	1	3	5	2	2	2	rs779982599		C3L-01632_TP	C3L-01632_NB	C	C																c.9003C>A	p.=	p.T3001T	ENST00000525166	12/27	117	99	18	195	195	0	strelka-varscan-mutect	FAT3,synonymous_variant,p.=,ENST00000409404,NM_001008781.2;FAT3,synonymous_variant,p.=,ENST00000525166,;	A	ENST00000525166	Transcript	synonymous_variant	9025/18699	9003/13320	3001/4439	T	acC/acA	rs779982599	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895				12/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313																	LOW	1	SNV	5			1										PASS		rs779982599	.												A	2	1	24	92810048	92810048	C	A	1	0	0	0	0	0	0	0	1	5551	581	21	2		2	FAT3	11	92810048	Silent	SNP	C	C3L-01632_TP	5771981	92810048	42276574	126	7719											
CNTN5	0	.	GRCh38	chr11	99916058	99916058	+	Frame_Shift_Del	DEL	G	G	-																															tttattatgttgacagatctGggaaattttagtggccggac																								novel		C3L-01632_TP	C3L-01632_NB	G	G																c.584delG	p.Gly195GlufsTer13	p.G195Efs*13	ENST00000524871	7/25	74	63	11	140	140	0	sindel-varindel-pindel	CNTN5,frameshift_variant,p.Gly195GlufsTer13,ENST00000524871,NM_014361.3;CNTN5,frameshift_variant,p.Gly179GlufsTer13,ENST00000279463,;CNTN5,frameshift_variant,p.Gly117GlufsTer13,ENST00000619298,;CNTN5,frameshift_variant,p.Gly195GlufsTer13,ENST00000527185,NM_001243271.1;CNTN5,frameshift_variant,p.Gly195GlufsTer13,ENST00000528682,NM_001243270.1;CNTN5,frameshift_variant,p.Gly121GlufsTer13,ENST00000418526,NM_175566.2;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	-	ENST00000524871	Transcript	frameshift_variant	872/6258	582/3303	194/1100	L/X	ctG/ct		1		1	CNTN5	HGNC	HGNC:2175	protein_coding	YES	CCDS53696.1	ENSP00000435637	O94779		UPI000006DAB0	NM_014361.3			7/25		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	24	99916058	99916058	G	-	1	0	1	0	1	0	0	0	0	3425	1362	47	0		0	CNTN5	11	99916058	Frame_Shift_Del	DEL	G	C3L-01632_TP	7106010	99916058	35170564	127	7720											
DLAT	0	.	GRCh38	chr11	112045204	112045204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctacaggtgtcttcacaGatatcccaatcagcaacatt	12	12	5	12	0	3	1	2	0	1	1	5	1	5	1	2	1	3	1	2	1	4	5	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1264G>A	p.Asp422Asn	p.D422N	ENST00000280346	9/14	353	331	22	455	455	0	strelka-varscan-mutect	DLAT,missense_variant,p.Asp422Asn,ENST00000280346,NM_001931.4;DLAT,missense_variant,p.Asp317Asn,ENST00000393051,;DLAT,missense_variant,p.Asp254Asn,ENST00000531306,;DLAT,3_prime_UTR_variant,,ENST00000533297,;	A	ENST00000280346	Transcript	missense_variant	1923/4458	1264/1944	422/647	D/N	Gat/Aat		1		1	DLAT	HGNC	HGNC:2896	protein_coding	YES	CCDS8354.1	ENSP00000280346	P10515	Q86YI5	UPI000000D963	NM_001931.4	deleterious(0)		9/14		Gene3D:3.30.559.10,Pfam_domain:PF00198,hmmpanther:PTHR23151,hmmpanther:PTHR23151:SF9,Superfamily_domains:SSF52777,TIGRFAM_domain:TIGR01349																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	112045204	112045204	G	A	1	0	0	0	0	1	0	0	0	4355	942	33	3		3	DLAT	11	112045204	Missense_Mutation	SNP	G	C3L-01632_TP	12129146	112045204	23041418	128	7721											
CEP164	0	.	GRCh38	chr11	117410873	117410873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccccgctggagagcaGgctgggttacatgtctgcca	7	7	12	15	1	1	1	0	0	1	1	1	2	1	1	5	3	3	4	5	3	1	1	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.4142G>T	p.Arg1381Met	p.R1381M	ENST00000278935	31/33	97	78	19	166	165	1	strelka-varscan-mutect	CEP164,missense_variant,p.Arg1381Met,ENST00000278935,NM_001271933.1,NM_014956.4;CEP164,non_coding_transcript_exon_variant,,ENST00000533706,;CEP164,non_coding_transcript_exon_variant,,ENST00000533675,;CEP164,non_coding_transcript_exon_variant,,ENST00000528706,;CEP164,non_coding_transcript_exon_variant,,ENST00000532187,;CEP164,downstream_gene_variant,,ENST00000533223,;CEP164,upstream_gene_variant,,ENST00000533433,;	T	ENST00000278935	Transcript	missense_variant	4289/5630	4142/4383	1381/1460	R/M	aGg/aTg		1		1	CEP164	HGNC	HGNC:29182	protein_coding	YES	CCDS31683.1	ENSP00000278935	Q9UPV0		UPI00001FA422	NM_001271933.1,NM_014956.4	deleterious(0.04)		31/33		hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF27																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	24	117410873	117410873	G	T	1	0	0	0	0	1	0	0	0	2963	1000	35	2		2	CEP164	11	117410873	Missense_Mutation	SNP	G	C3L-01632_TP	5365669	117410873	17675749	129	7722											
TMPRSS13	0	.	GRCh38	chr11	117918478	117918478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatcggatgggtacagcccCcactggtgttgctctaacaa	9	10	11	11	1	1	1	0	1	1	0	2	2	1	2	2	3	4	3	2	3	3	3	rs752289870		C3L-01632_TP	C3L-01632_NB	C	C																c.382G>T	p.Gly128Trp	p.G128W	ENST00000524993	2/13	239	172	67	433	431	2	strelka-varscan-mutect	TMPRSS13,missense_variant,p.Gly128Trp,ENST00000528626,NM_001206789.1;TMPRSS13,missense_variant,p.Gly128Trp,ENST00000526090,NM_001206790.1;TMPRSS13,missense_variant,p.Gly128Trp,ENST00000445164,;TMPRSS13,missense_variant,p.Gly128Trp,ENST00000430170,NM_001244995.1;TMPRSS13,missense_variant,p.Gly128Trp,ENST00000524993,NM_001077263.2;TMPRSS13,non_coding_transcript_exon_variant,,ENST00000525794,;TMPRSS13,intron_variant,,ENST00000528135,;	A	ENST00000524993	Transcript	missense_variant	440/1950	382/1704	128/567	G/W	Ggg/Tgg	rs752289870	1		-1	TMPRSS13	HGNC	HGNC:29808	protein_coding	YES	CCDS41721.1	ENSP00000434279		E9PRA0	UPI0000E5923F	NM_001077263.2	deleterious(0.01)		2/13		PIRSF_domain:PIRSF037935																	MODERATE	1	SNV	1			1										PASS		rs752289870	.												A	3	1	24	117918478	117918478	C	A	1	0	0	0	0	1	0	0	0	16721	623	22	2		2	TMPRSS13	11	117918478	Missense_Mutation	SNP	C	C3L-01632_TP	507605	117918478	17168144	130	7723											
IL10RA	0	.	GRCh38	chr11	117999236	117999236	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgctgtggcattccaGggttacctgaggcagaccag	8	8	13	12	0	0	2	0	1	0	1	1	2	1	2	4	3	3	5	4	3	1	2	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1332G>C	p.Gln444His	p.Q444H	ENST00000227752	7/7	186	150	36	332	332	0	strelka-varscan-mutect	IL10RA,missense_variant,p.Gln444His,ENST00000227752,NM_001558.3;TMPRSS4-AS1,downstream_gene_variant,,ENST00000636151,;IL10RA,non_coding_transcript_exon_variant,,ENST00000533700,;IL10RA,3_prime_UTR_variant,,ENST00000534574,;IL10RA,3_prime_UTR_variant,,ENST00000526544,;IL10RA,non_coding_transcript_exon_variant,,ENST00000529924,;IL10RA,non_coding_transcript_exon_variant,,ENST00000530761,;IL10RA,non_coding_transcript_exon_variant,,ENST00000525467,;IL10RA,downstream_gene_variant,,ENST00000530178,;	C	ENST00000227752	Transcript	missense_variant	1452/3695	1332/1737	444/578	Q/H	caG/caC		1		1	IL10RA	HGNC	HGNC:5964	protein_coding	YES	CCDS8388.1	ENSP00000227752	Q13651		UPI000013C8BF	NM_001558.3	deleterious(0)		7/7		hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF43																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	24	117999236	117999236	G	C	1	0	0	0	0	1	0	0	0	7528	991	35	4		4	IL10RA	11	117999236	Missense_Mutation	SNP	G	C3L-01632_TP	80758	117999236	17087386	131	7724											
TRIM29	0	.	GRCh38	chr11	120137321	120137321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatgcaggtctggtcggtCtggcagaagagctccatcgt	8	9	14	10	2	2	3	0	0	2	3	5	3	3	3	1	4	2	3	1	4	1	0	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.711G>A	p.=	p.Q237Q	ENST00000341846	1/9	324	298	26	506	505	1	strelka-varscan-mutect	TRIM29,synonymous_variant,p.=,ENST00000341846,NM_012101.3;TRIM29,downstream_gene_variant,,ENST00000532833,;TRIM29,downstream_gene_variant,,ENST00000529495,;TRIM29,downstream_gene_variant,,ENST00000529040,;TRIM29,downstream_gene_variant,,ENST00000529011,;TRIM29,downstream_gene_variant,,ENST00000627238,;TRIM29,3_prime_UTR_variant,,ENST00000475051,;	T	ENST00000341846	Transcript	synonymous_variant	1133/3328	711/1767	237/588	Q	caG/caA		1		-1	TRIM29	HGNC	HGNC:17274	protein_coding	YES	CCDS8428.1	ENSP00000343129	Q14134	A0A024R3J1	UPI0000073FDE	NM_012101.3			1/9		Gene3D:1freA00,Pfam_domain:PF00643,PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF412,SMART_domains:SM00336,Superfamily_domains:SSF57845																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	24	120137321	120137321	C	T	1	0	0	0	0	0	0	0	1	16992	912	32	3		3	TRIM29	11	120137321	Silent	SNP	C	C3L-01632_TP	2138085	120137321	14949301	132	7725											
ACSM4	0	.	GRCh38	chr12	7328309	7328309	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatttgttcaagaactccCaaagacaatcactgggaaaa	17	8	8	8	0	2	2	2	0	0	2	3	4	3	4	1	2	1	1	1	2	7	2	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.1679C>A	p.Pro560Gln	p.P560Q	ENST00000399422	13/13	168	132	36	213	213	0	strelka-varscan-mutect	ACSM4,missense_variant,p.Pro560Gln,ENST00000399422,NM_001080454.1;	A	ENST00000399422	Transcript	missense_variant	1727/2142	1679/1743	560/580	P/Q	cCa/cAa		1		1	ACSM4	HGNC	HGNC:32016	protein_coding	YES	CCDS44825.1	ENSP00000382349	P0C7M7		UPI0000DD812A	NM_001080454.1	deleterious(0)		13/13		hmmpanther:PTHR24095:SF127,hmmpanther:PTHR24095,Gene3D:3.30.300.30,Pfam_domain:PF13193,Superfamily_domains:SSF56801																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	24	7328309	7328309	C	A	1	0	0	0	0	1	0	0	0	228	594	21	2		2	ACSM4	12	7328309	Missense_Mutation	SNP	C	C3L-01632_TP		7328309	125947000	133	7726											
KLRC2	0	.	GRCh38	chr12	10433833	10433833	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcagactggagttcttCgaagtacaggccagcaaact	14	7	11	9	1	1	1	0	0	1	1	2	4	1	2	1	2	4	4	1	2	4	3	rs779739177		C3L-01632_TP	C3L-01632_NB	C	C																c.441G>T	p.=	p.S147S	ENST00000381902	4/6	236	182	54	326	326	0	strelka-varscan-mutect	KLRC2,synonymous_variant,p.=,ENST00000381902,NM_002260.3;KLRC2,synonymous_variant,p.=,ENST00000381901,;KLRC2,synonymous_variant,p.=,ENST00000619500,;KLRC2,synonymous_variant,p.=,ENST00000536833,;KLRC2,synonymous_variant,p.=,ENST00000537017,;RP11-277P12.6,intron_variant,,ENST00000539033,;KLRC2,missense_variant,p.Arg96Leu,ENST00000535069,;	A	ENST00000381902	Transcript	synonymous_variant	448/1221	441/696	147/231	S	tcG/tcT	rs779739177	1		-1	KLRC2	HGNC	HGNC:6375	protein_coding	YES	CCDS31745.1	ENSP00000371327	P26717		UPI0000140823	NM_002260.3			4/6		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF167,SMART_domains:SM00034,Superfamily_domains:SSF56436																	LOW	1	SNV	1			1										PASS		rs779739177	.												A	2	1	24	10433833	10433833	C	A	1	0	0	0	0	0	0	0	1	8285	871	31	1		1	KLRC2	12	10433833	Silent	SNP	C	C3L-01632_TP	3105524	10433833	122841476	134	7727											
KLRC1	0	.	GRCh38	chr12	10449382	10449382	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggacaatggccacaaTgacgtgctaaataaagatat	16	8	8	9	1	1	2	1	1	0	1	1	3	1	3	2	2	1	1	2	2	7	3	rs760718931		C3L-01632_TP	C3L-01632_NB	T	T																c.344A>C	p.His115Pro	p.H115P	ENST00000544822	6/8	152	143	9	181	179	2	varscan-mutect	KLRC1,missense_variant,p.His115Pro,ENST00000544822,NM_213658.2;KLRC1,missense_variant,p.His97Pro,ENST00000408006,NM_213657.2;KLRC1,missense_variant,p.His115Pro,ENST00000359151,NM_002259.4;KLRC1,missense_variant,p.His97Pro,ENST00000347831,NM_007328.3;KLRC1,missense_variant,p.His115Pro,ENST00000536188,NM_001304448.1;KLRC1,upstream_gene_variant,,ENST00000543893,;KLRC1,downstream_gene_variant,,ENST00000537699,;	G	ENST00000544822	Transcript	missense_variant	732/1600	344/702	115/233	H/P	cAt/cCt	rs760718931	1		-1	KLRC1	HGNC	HGNC:6374	protein_coding	YES	CCDS8625.1	ENSP00000438038	P26715		UPI000013CF3D	NM_213658.2	tolerated(0.14)		6/8		hmmpanther:PTHR22800:SF167,hmmpanther:PTHR22800,Gene3D:3.10.100.10,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		rs760718931	.												G	3	3	24	10449382	10449382	T	G	1	0	0	0	0	1	0	0	0	8284	1464	51	5		5	KLRC1	12	10449382	Missense_Mutation	SNP	T	C3L-01632_TP	15549	10449382	122825927	135	7728											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3L-01632_TP	C3L-01632_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	277	220	57	369	369	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												A	3	1	24	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	C3L-01632_TP	14795969	25245351	108029958	136	7729											
AGAP2	0	.	GRCh38	chr12	57734668	57734668	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcccactcctggcatcGcccagcacaccctgagggca	8	6	9	18	1	0	1	0	1	0	0	3	2	2	1	4	2	1	3	4	2	0	1	rs536899006		C3L-01632_TP	C3L-01632_NB	G	G																c.1239C>G	p.=	p.G413G	ENST00000547588	3/19	160	137	23	282	282	0	strelka-varscan-mutect	AGAP2,synonymous_variant,p.=,ENST00000257897,NM_014770.3;AGAP2,synonymous_variant,p.=,ENST00000328568,;AGAP2,synonymous_variant,p.=,ENST00000547588,NM_001122772.2;AGAP2,upstream_gene_variant,,ENST00000549129,;TSPAN31,upstream_gene_variant,,ENST00000553221,;	C	ENST00000547588	Transcript	synonymous_variant	1239/3579	1239/3579	413/1192	G	ggC/ggG	rs536899006	1		-1	AGAP2	HGNC	HGNC:16921	protein_coding	YES	CCDS44932.1	ENSP00000449241		F8VVT9	UPI00001AF80C	NM_001122772.2			3/19		Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51419,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs536899006	.												C	2	2	24	57734668	57734668	G	C	1	0	0	0	0	0	0	0	1	445	1074	38	4		4	AGAP2	12	57734668	Silent	SNP	G	C3L-01632_TP	32489317	57734668	75540641	137	7730											
METTL1	0	.	GRCh38	chr12	57772068	57772068	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctccggccacgttccGagtctcggctgccatgatcc	4	10	10	17	4	2	1	0	1	2	0	6	2	5	1	5	2	2	3	5	2	0	1	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.16C>A	p.=	p.R6R	ENST00000324871	1/6	66	52	14	147	147	0	strelka-mutect	METTL1,synonymous_variant,p.=,ENST00000324871,NM_005371.5;METTL1,synonymous_variant,p.=,ENST00000257848,NM_023033.3;METTL21B,intron_variant,,ENST00000548256,;METTL21B,upstream_gene_variant,,ENST00000333012,NM_206914.1;METTL21B,upstream_gene_variant,,ENST00000300209,NM_015433.2;CYP27B1,upstream_gene_variant,,ENST00000228606,NM_000785.3;METTL21B,upstream_gene_variant,,ENST00000551420,;METTL1,upstream_gene_variant,,ENST00000547653,;CYP27B1,upstream_gene_variant,,ENST00000546609,;RP11-571M6.15,upstream_gene_variant,,ENST00000546504,;METTL1,upstream_gene_variant,,ENST00000548504,;METTL1,non_coding_transcript_exon_variant,,ENST00000548681,;METTL21B,upstream_gene_variant,,ENST00000552307,;RP11-571M6.15,upstream_gene_variant,,ENST00000553083,;METTL1,synonymous_variant,p.=,ENST00000553125,;METTL1,synonymous_variant,p.=,ENST00000551117,;METTL1,non_coding_transcript_exon_variant,,ENST00000549773,;CYP27B1,upstream_gene_variant,,ENST00000547344,;RP11-571M6.15,upstream_gene_variant,,ENST00000471530,;	T	ENST00000324871	Transcript	synonymous_variant	726/2066	16/831	6/276	R	Cgg/Agg		1		-1	METTL1	HGNC	HGNC:7030	protein_coding	YES	CCDS8955.3	ENSP00000314441	Q9UBP6		UPI0000072720	NM_005371.5			1/6		hmmpanther:PTHR23417:SF16,hmmpanther:PTHR23417																	LOW	1	SNV	1			1										PASS		rs1293312643	.												T	2	4	24	57772068	57772068	G	T	1	0	0	0	0	0	0	0	1	9436	1057	37	1		1	METTL1	12	57772068	Silent	SNP	G	C3L-01632_TP	37400	57772068	75503241	138	7731											
NAV3	0	.	GRCh38	chr12	78006473	78006473	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatggtaacgtgcagcctcCcagtactgctgggcagcctc	9	8	11	13	1	0	0	0	0	0	0	2	0	1	0	3	2	6	5	3	2	3	2			C3L-01632_TP	C3L-01632_NB	C	C																c.935C>G	p.Pro312Arg	p.P312R	ENST00000397909	8/40	131	108	23	236	236	0	varscan-mutect	NAV3,missense_variant,p.Pro312Arg,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Pro312Arg,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Pro312Arg,ENST00000549464,;NAV3,missense_variant,p.Pro255Arg,ENST00000550042,;NAV3,missense_variant,p.Pro136Arg,ENST00000550503,;NAV3,splice_region_variant,,ENST00000547725,;NAV3,upstream_gene_variant,,ENST00000550673,;	G	ENST00000397909	Transcript	missense_variant	1108/9821	935/7158	312/2385	P/R	cCc/cGc	COSM5331521,COSM5331522	1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	deleterious(0.01)		8/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1260108374	.												G	3	3	24	78006473	78006473	C	G	1	0	0	0	0	1	0	0	0	10194	623	22	4		4	NAV3	12	78006473	Missense_Mutation	SNP	C	C3L-01632_TP	20234405	78006473	55268836	139	7732											
TUBA3C	0	.	GRCh38	chr13	19179476	19179476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcatctgaccatcgggctGaattccatgttccaggcagt	8	11	11	11	1	1	2	0	2	1	0	4	2	3	2	3	3	0	4	3	3	1	2	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.91C>G	p.Gln31Glu	p.Q31E	ENST00000400113	2/5	235	185	50	367	367	0	strelka-varscan-mutect	TUBA3C,missense_variant,p.Gln31Glu,ENST00000400113,NM_006001.2;TUBA3C,missense_variant,p.Gln31Glu,ENST00000618094,;	C	ENST00000400113	Transcript	missense_variant	196/1551	91/1353	31/450	Q/E	Cag/Gag		1		-1	TUBA3C	HGNC	HGNC:12408	protein_coding	YES	CCDS9284.1	ENSP00000382982	Q13748	Q1ZYQ1	UPI0000027DB1	NM_006001.2	deleterious_low_confidence(0.05)		2/5		hmmpanther:PTHR11588:SF94,hmmpanther:PTHR11588,Gene3D:3.40.50.1440,Pfam_domain:PF00091,Superfamily_domains:SSF52490,Prints_domain:PR01162																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	24	19179476	19179476	G	C	1	0	0	0	0	1	0	0	0	17256	1299	45	4		4	TUBA3C	13	19179476	Missense_Mutation	SNP	G	C3L-01632_TP		19179476	95184852	140	7733											
MTUS2	0	.	GRCh38	chr13	29492708	29492708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattttgaaaaactgcggCtgtcattgcaggttagtatt	13	14	9	5	1	1	1	1	1	0	0	1	1	1	1	0	2	3	4	0	2	6	6			C3L-01632_TP	C3L-01632_NB	C	C																c.3598C>A	p.Leu1200Met	p.L1200M	ENST00000612955	12/16	127	110	17	187	187	0	strelka-varscan-mutect	MTUS2,missense_variant,p.Leu1200Met,ENST00000612955,NM_001033602.2;MTUS2,missense_variant,p.Leu169Met,ENST00000380808,NM_015233.5;MTUS2,missense_variant,p.Leu79Met,ENST00000542829,;MTUS2-AS1,upstream_gene_variant,,ENST00000323380,;MTUS2,upstream_gene_variant,,ENST00000400542,;MTUS2,upstream_gene_variant,,ENST00000467990,;	A	ENST00000612955	Transcript	missense_variant	4147/7430	3598/4140	1200/1379	L/M	Ctg/Atg	COSM3688666,COSM3688667	1		1	MTUS2	HGNC	HGNC:20595	protein_coding	YES	CCDS45022.1	ENSP00000483729		J3KQA9	UPI0000F734AC	NM_001033602.2	deleterious(0)		12/16		hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200,Coiled-coils_(Ncoils):Coil											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	24	29492708	29492708	C	A	1	0	0	0	0	1	0	0	0	9964	796	28	2		2	MTUS2	13	29492708	Missense_Mutation	SNP	C	C3L-01632_TP	10313232	29492708	84871620	141	7734											
PCDH17	0	.	GRCh38	chr13	57632761	57632761	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctggagaactccgcacCgcacctgctggacgtggacg	7	6	15	13	4	0	1	0	0	0	1	1	4	1	3	3	4	3	4	3	4	1	0			C3L-01632_TP	C3L-01632_NB	C	C																c.215C>G	p.Pro72Arg	p.P72R	ENST00000377918	1/4	354	295	59	626	626	0	strelka-varscan-mutect	PCDH17,missense_variant,p.Pro72Arg,ENST00000377918,NM_001040429.2;PCDH17,upstream_gene_variant,,ENST00000612954,;PCDH17,upstream_gene_variant,,ENST00000615375,;RP11-95F22.1,non_coding_transcript_exon_variant,,ENST00000610846,;PCDH17,missense_variant,p.Pro72Arg,ENST00000484979,;	G	ENST00000377918	Transcript	missense_variant	950/8232	215/3480	72/1159	P/R	cCg/cGg	COSM3885437	1		1	PCDH17	HGNC	HGNC:14267	protein_coding	YES	CCDS31986.1	ENSP00000367151	O14917		UPI00001FCE5B	NM_001040429.2	tolerated(0.16)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE	1	SNV	1		1	1										PASS		rs1254284380	.												G	3	3	24	57632761	57632761	C	G	1	0	0	0	0	1	0	0	0	11599	652	23	4		4	PCDH17	13	57632761	Missense_Mutation	SNP	C	C3L-01632_TP	28140053	57632761	56731567	142	7735											
ABCC4	0	.	GRCh38	chr13	95163648	95163648	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaagcacataggcaacCtaggaggggagaaacaacaa	17	5	11	8	0	1	2	0	1	1	1	1	4	1	3	1	4	4	2	1	4	7	3	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.2176-1G>T		p.X726_splice	ENST00000376887		170	147	23	251	251	0	strelka-varscan-mutect	ABCC4,splice_acceptor_variant,,ENST00000376887,NM_005845.4,NM_001301829.1;ABCC4,splice_acceptor_variant,,ENST00000629385,NM_001105515.2;ABCC4,splice_acceptor_variant,,ENST00000536256,NM_001301830.1;	A	ENST00000376887	Transcript	splice_acceptor_variant	-/5839	2176/3978	726/1325				1		-1	ABCC4	HGNC	HGNC:55	protein_coding	YES	CCDS9474.1	ENSP00000366084	O15439		UPI00001A36E6	NM_005845.4,NM_001301829.1				16/30																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	24	95163648	95163648	C	A	1	0	0	0	0	0	0	1	0	59	695	24	2		2	ABCC4	13	95163648	Splice_Site	SNP	C	C3L-01632_TP	37530887	95163648	19200680	143	7736											
MYO16	0	.	GRCh38	chr13	109127403	109127403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtctccttcgctgcactcgGtgttcagcatggatgacagc	6	11	12	12	2	2	1	1	1	1	0	5	2	2	2	1	3	3	4	1	3	0	2	rs772784357		C3L-01632_TP	C3L-01632_NB	G	G																c.3904G>T	p.Val1302Leu	p.V1302L	ENST00000457511	31/35	212	172	40	319	319	0	strelka-varscan-mutect	MYO16,missense_variant,p.Val1302Leu,ENST00000457511,NM_001198950.1;MYO16,missense_variant,p.Val1280Leu,ENST00000356711,NM_015011.1;MYO16,missense_variant,p.Val1280Leu,ENST00000357550,;	T	ENST00000457511	Transcript	missense_variant	4526/7436	3904/5643	1302/1880	V/L	Gtg/Ttg	rs772784357	1		1	MYO16	HGNC	HGNC:29822	protein_coding	YES	CCDS73598.1	ENSP00000401633		F8W883	UPI00002375AE	NM_001198950.1	deleterious(0.01)		31/35		Pfam_domain:PF15439																	MODERATE	1	SNV	1			1										PASS		rs772784357	.												T	3	4	24	109127403	109127403	G	T	1	0	0	0	0	1	0	0	0	10065	1261	44	2		2	MYO16	13	109127403	Missense_Mutation	SNP	G	C3L-01632_TP	13963755	109127403	5236925	144	7737											
DIO2	0	.	GRCh38	chr14	80202994	80202994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacaaagaggagtcccccgGtatcgcccagccatctgatg	11	6	11	13	2	1	3	0	1	1	2	3	4	2	4	4	2	1	1	4	2	2	1	rs760217727		C3L-01632_TP	C3L-01632_NB	G	G																c.625C>A	p.Pro209Thr	p.P209T	ENST00000555750	3/3	165	137	28	291	290	1	strelka-varscan-mutect	DIO2,stop_gained,p.Tyr47Ter,ENST00000557125,;DIO2,missense_variant,p.Pro173Thr,ENST00000557010,NM_001324462.1,NM_000793.5;DIO2,missense_variant,p.Pro173Thr,ENST00000438257,NM_013989.4;DIO2,missense_variant,p.Pro209Thr,ENST00000555750,NM_001007023.3;DIO2,3_prime_UTR_variant,,ENST00000422005,NM_001242503.2,NM_001242502.1;DIO2,3_prime_UTR_variant,,ENST00000556811,;DIO2,3_prime_UTR_variant,,ENST00000555844,;	T	ENST00000555750	Transcript	missense_variant	653/1049	625/930	209/309	P/T	Ccg/Acg	rs760217727	1		-1	DIO2	HGNC	HGNC:2884	protein_coding	YES	CCDS55934.1	ENSP00000450980		A0A0A0MTQ2	UPI000046D384	NM_001007023.3	tolerated(0.17)		3/3		Gene3D:3.40.30.10,Pfam_domain:PF00837,hmmpanther:PTHR11781,hmmpanther:PTHR11781:SF3,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		rs760217727	.												T	3	4	24	80202994	80202994	G	T	1	0	0	0	0	1	0	0	0	4330	1265	44	2		2	DIO2	14	80202994	Missense_Mutation	SNP	G	C3L-01632_TP		80202994	26840724	145	7738											
C14orf159	0	.	GRCh38	chr14	91189040	91189040	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcatgagcctccagaagaGacagatggcccaccaggagc	14	4	11	12	0	1	4	1	1	0	3	2	6	2	5	4	2	2	0	4	2	2	0	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1065G>C	p.Glu355Asp	p.E355D	ENST00000518868	12/17	389	292	97	623	623	0	strelka-varscan-mutect	C14orf159,missense_variant,p.Glu355Asp,ENST00000518868,NM_001286470.1;C14orf159,missense_variant,p.Glu350Asp,ENST00000523771,NM_001286471.1;C14orf159,missense_variant,p.Glu355Asp,ENST00000256324,NM_001102368.2;C14orf159,missense_variant,p.Glu350Asp,ENST00000522322,NM_001102367.2;C14orf159,missense_variant,p.Glu350Asp,ENST00000523816,NM_001102366.2;C14orf159,missense_variant,p.Glu355Asp,ENST00000521077,NM_001286472.1;C14orf159,missense_variant,p.Glu338Asp,ENST00000520328,NM_001102369.2;C14orf159,missense_variant,p.Glu355Asp,ENST00000412671,;C14orf159,missense_variant,p.Glu350Asp,ENST00000428926,NM_024952.7;C14orf159,missense_variant,p.Glu355Asp,ENST00000525393,;C14orf159,missense_variant,p.Glu355Asp,ENST00000517518,;C14orf159,upstream_gene_variant,,ENST00000557303,;C14orf159,missense_variant,p.Glu340Asp,ENST00000523461,;C14orf159,missense_variant,p.Glu231Asp,ENST00000517306,;C14orf159,3_prime_UTR_variant,,ENST00000523837,;C14orf159,downstream_gene_variant,,ENST00000519994,;	C	ENST00000518868	Transcript	missense_variant	1755/3075	1065/1866	355/621	E/D	gaG/gaC		1		1	C14orf159	HGNC	HGNC:20498	protein_coding	YES	CCDS41979.1	ENSP00000428263	Q7Z3D6		UPI000000CC60	NM_001286470.1	deleterious(0)		12/17		hmmpanther:PTHR32022,Pfam_domain:PF14336,PIRSF_domain:PIRSF037204																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	24	91189040	91189040	G	C	1	0	0	0	0	1	0	0	0	1830	933	33	4		4	C14orf159	14	91189040	Missense_Mutation	SNP	G	C3L-01632_TP	10986046	91189040	15854678	146	7739											
SERPINA11	0	.	GRCh38	chr14	94448418	94448418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggtgtggaggaggctccgGaagccctggtggatgtcggc	6	7	20	8	2	0	0	0	0	0	0	2	4	1	4	2	8	1	1	2	8	1	0	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.357C>A	p.Phe119Leu	p.F119L	ENST00000334708	2/5	227	166	61	425	425	0	strelka-varscan-mutect	SERPINA11,missense_variant,p.Phe119Leu,ENST00000334708,NM_001080451.1;RP11-349I1.2,intron_variant,,ENST00000536735,;	T	ENST00000334708	Transcript	missense_variant	422/1476	357/1269	119/422	F/L	ttC/ttA		1		-1	SERPINA11	HGNC	HGNC:19193	protein_coding	YES	CCDS32149.1	ENSP00000335024	Q86U17		UPI000015DA3A	NM_001080451.1	deleterious(0)		2/5		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF154,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	24	94448418	94448418	G	T	1	0	0	0	0	1	0	0	0	14364	1165	41	2		2	SERPINA11	14	94448418	Missense_Mutation	SNP	G	C3L-01632_TP	3259378	94448418	12595300	147	7740											
RYR3	0	.	GRCh38	chr15	33662556	33662556	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccttgctttgttgtgactGgtgaggatcaccaaaagcag	9	11	11	10	0	1	2	1	2	0	0	1	3	1	3	3	2	2	3	3	2	2	3	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.5026G>C	p.Gly1676Arg	p.G1676R	ENST00000634891	35/104	196	163	33	305	305	0	strelka-varscan-mutect	RYR3,missense_variant,p.Gly1676Arg,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Gly1676Arg,ENST00000622037,;RYR3,missense_variant,p.Gly1676Arg,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Gly1676Arg,ENST00000389232,;RYR3,missense_variant,p.Gly1676Arg,ENST00000634418,;	C	ENST00000634891	Transcript	missense_variant	5127/15591	5026/14613	1676/4870	G/R	Ggt/Cgt		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	tolerated(0.5)		35/104		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	24	33662556	33662556	G	C	1	0	0	0	0	1	0	0	0	14030	1348	47	4		4	RYR3	15	33662556	Missense_Mutation	SNP	G	C3L-01632_TP		33662556	68328633	148	7741											
RPAP1	0	.	GRCh38	chr15	41520429	41520429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagctcgcaaggctcccaCgtgttccccaaagagggcaa	11	5	11	14	2	0	2	0	0	0	2	3	2	2	2	3	2	1	5	3	2	3	1	rs143725774		C3L-01632_TP	C3L-01632_NB	C	C																c.3757G>A	p.Val1253Met	p.V1253M	ENST00000304330	22/25	115	109	6	198	198	0	strelka-varscan	RPAP1,missense_variant,p.Val1253Met,ENST00000304330,NM_015540.3;RPAP1,intron_variant,,ENST00000561603,;RPAP1,downstream_gene_variant,,ENST00000565035,;RPAP1,missense_variant,p.Val1253Met,ENST00000562303,;RPAP1,non_coding_transcript_exon_variant,,ENST00000565167,;RPAP1,downstream_gene_variant,,ENST00000564934,;RPAP1,downstream_gene_variant,,ENST00000561631,;	T	ENST00000304330	Transcript	missense_variant	3874/4665	3757/4182	1253/1393	V/M	Gtg/Atg	rs143725774,COSM4054516	1		-1	RPAP1	HGNC	HGNC:24567	protein_coding	YES	CCDS10079.1	ENSP00000306123	Q9BWH6		UPI000013D465	NM_015540.3	tolerated(0.07)		22/25		hmmpanther:PTHR21483,hmmpanther:PTHR21483:SF18											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	24	41520429	41520429	C	T	1	0	0	0	0	1	0	0	0	13793	536	19	1		1	RPAP1	15	41520429	Missense_Mutation	SNP	C	C3L-01632_TP	7857873	41520429	60470760	149	7742											
UNC13C	0	.	GRCh38	chr15	54567908	54567908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatacccaaactactgatGccttgataaagaaattcata	16	13	4	8	0	1	3	1	2	0	1	1	3	1	3	2	0	4	0	2	0	8	8	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.6067G>T	p.Ala2023Ser	p.A2023S	ENST00000260323	29/32	101	94	7	163	163	0	strelka-varscan-mutect	UNC13C,missense_variant,p.Ala2023Ser,ENST00000260323,NM_001080534.1;	T	ENST00000260323	Transcript	missense_variant	6067/12946	6067/6645	2023/2214	A/S	Gcc/Tcc		1		1	UNC13C	HGNC	HGNC:23149	protein_coding	YES	CCDS45264.1	ENSP00000260323	Q8NB66		UPI0000DD82AB	NM_001080534.1	tolerated_low_confidence(0.13)		29/32		Pfam_domain:PF10540,PROSITE_profiles:PS51259,hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	24	54567908	54567908	G	T	1	0	0	0	0	1	0	0	0	17510	1319	46	2		2	UNC13C	15	54567908	Missense_Mutation	SNP	G	C3L-01632_TP	13047479	54567908	47423281	150	7743											
ITGA11	0	.	GRCh38	chr15	68358528	68358528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgctgaacctccacccagGggtagatgctgttggagcca	9	8	13	11	0	0	2	0	1	0	1	1	3	1	3	4	3	4	4	4	3	2	2	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.530C>T	p.Pro177Leu	p.P177L	ENST00000315757	6/30	163	145	18	242	242	0	strelka-mutect	ITGA11,missense_variant,p.Pro177Leu,ENST00000423218,;ITGA11,missense_variant,p.Pro177Leu,ENST00000315757,NM_001004439.1;ITGA11,non_coding_transcript_exon_variant,,ENST00000562826,;ITGA11,non_coding_transcript_exon_variant,,ENST00000568677,;ITGA11,non_coding_transcript_exon_variant,,ENST00000565868,;	A	ENST00000315757	Transcript	missense_variant	626/3955	530/3567	177/1188	P/L	cCc/cTc		1		-1	ITGA11	HGNC	HGNC:6136	protein_coding	YES	CCDS45291.1	ENSP00000327290	Q9UKX5		UPI00001FE74D	NM_001004439.1	deleterious(0)		6/30		PROSITE_profiles:PS50234,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300,Prints_domain:PR00453																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	68358528	68358528	G	A	1	0	0	0	0	1	0	0	0	7781	1232	43	3		3	ITGA11	15	68358528	Missense_Mutation	SNP	G	C3L-01632_TP	13790620	68358528	33632661	151	7744											
CORO2B	0	.	GRCh38	chr15	68719452	68719452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaagaaggctataagaagtCctcaaaaatggtatttaagg	18	9	10	4	0	1	2	1	0	0	2	2	3	2	2	1	3	0	2	1	3	9	5	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.1211C>T	p.Ser404Phe	p.S404F	ENST00000566799	11/12	123	114	9	206	206	0	strelka-mutect	CORO2B,missense_variant,p.Ser399Phe,ENST00000543950,NM_001190457.1;CORO2B,missense_variant,p.Ser399Phe,ENST00000261861,NM_001324015.1,NM_001324014.1;CORO2B,missense_variant,p.Ser404Phe,ENST00000566799,NM_006091.4;CORO2B,missense_variant,p.Ser399Phe,ENST00000540068,NM_001190456.1;	T	ENST00000566799	Transcript	missense_variant	1505/3566	1211/1443	404/480	S/F	tCc/tTc		1		1	CORO2B	HGNC	HGNC:2256	protein_coding	YES	CCDS10229.2	ENSP00000454783	Q9UQ03		UPI0000E59C95	NM_006091.4	tolerated(0.1)		11/12		hmmpanther:PTHR10856:SF17,hmmpanther:PTHR10856																	MODERATE	1	SNV	1			1										PASS		rs1400602853	.												T	3	4	24	68719452	68719452	C	T	1	0	0	0	0	1	0	0	0	3551	855	30	3		3	CORO2B	15	68719452	Missense_Mutation	SNP	C	C3L-01632_TP	360924	68719452	33271737	152	7745											
AGBL1	0	.	GRCh38	chr15	86295409	86295409	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatctagagcagttccGtgagtaaaatgggatcctct	11	11	11	8	1	2	3	0	2	2	1	4	4	4	4	2	1	2	4	2	1	3	3	rs760446554		C3L-01632_TP	C3L-01632_NB	G	G																c.2374+1G>T		p.X792_splice	ENST00000441037		46	35	11	98	97	1	strelka-varscan-mutect	AGBL1,splice_donor_variant,,ENST00000614907,;AGBL1,splice_donor_variant,,ENST00000441037,;AGBL1,splice_donor_variant,,ENST00000635782,NM_152336.2;AGBL1,splice_donor_variant,,ENST00000421325,;AGBL1-AS1,downstream_gene_variant,,ENST00000564487,;AGBL1-AS1,downstream_gene_variant,,ENST00000566878,;AGBL1,non_coding_transcript_exon_variant,,ENST00000567715,;AGBL1,non_coding_transcript_exon_variant,,ENST00000568785,;	T	ENST00000441037	Transcript	splice_donor_variant	-/3551	2374/3339	792/1112			rs760446554,COSM3944304,COSM4422286,COSM966099	1		1	AGBL1	Clone_based_vega_gene	HGNC:26504	protein_coding	YES		ENSP00000413001	Q96MI9		UPI000387C1D9					17/24												0,1,1,1						HIGH		SNV	5		0,1,1,1	1										PASS		rs760446554	.												T	5	4	24	86295409	86295409	G	T	1	0	0	0	0	0	0	1	0	451	1159	40	1		1	AGBL1	15	86295409	Splice_Site	SNP	G	C3L-01632_TP	17575957	86295409	15695780	153	7746											
NTRK3	0	.	GRCh38	chr15	87933079	87933079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagggggtccccatcgcCgcacactccatagaacttga	10	7	11	13	2	0	3	0	2	0	1	3	4	2	3	4	2	1	1	4	2	2	2	rs760692815		C3L-01632_TP	C3L-01632_NB	C	C																c.1822G>T	p.Gly608Cys	p.G608C	ENST00000360948	16/20	323	284	39	475	475	0	strelka-varscan-mutect	NTRK3,missense_variant,p.Gly608Cys,ENST00000394480,NM_002530.3;NTRK3,missense_variant,p.Gly600Cys,ENST00000558676,;NTRK3,missense_variant,p.Gly608Cys,ENST00000360948,NM_001012338.2;NTRK3,missense_variant,p.Gly600Cys,ENST00000357724,;NTRK3,missense_variant,p.Gly600Cys,ENST00000355254,NM_001243101.1;NTRK3,missense_variant,p.Gly608Cys,ENST00000626019,;NTRK3,missense_variant,p.Gly608Cys,ENST00000629765,;NTRK3,missense_variant,p.Gly600Cys,ENST00000557856,;NTRK3,missense_variant,p.Gly510Cys,ENST00000542733,NM_001320135.1;NTRK3,missense_variant,p.Gly5Cys,ENST00000558576,;NTRK3,non_coding_transcript_exon_variant,,ENST00000559680,;	A	ENST00000360948	Transcript	missense_variant	2128/3004	1822/2520	608/839	G/C	Ggc/Tgc	rs760692815,COSM1517967,COSM1517968,COSM4708559,COSM88799	1		-1	NTRK3	HGNC	HGNC:8033	protein_coding	YES	CCDS32322.1	ENSP00000354207	Q16288	X5D2R1	UPI000006DC82	NM_001012338.2	deleterious(0.01)		16/20		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF66,SMART_domains:SM00219,Superfamily_domains:SSF56112											0,1,1,1,1						MODERATE	1	SNV	5		0,1,1,1,1	1										PASS		rs760692815	.												A	3	1	24	87933079	87933079	C	A	1	0	0	0	0	1	0	0	0	10774	652	23	1		1	NTRK3	15	87933079	Missense_Mutation	SNP	C	C3L-01632_TP	1637670	87933079	14058110	154	7747											
MSLN	0	.	GRCh38	chr16	764063	764063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggcttcccgtgtgcggagGtgtccggcctgagcacggag	4	9	17	11	4	0	1	0	1	0	0	2	3	2	3	3	5	2	2	3	5	0	2	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.220G>A	p.Val74Met	p.V74M	ENST00000382862	5/17	168	154	14	296	296	0	strelka-varscan-mutect	MSLN,missense_variant,p.Val74Met,ENST00000566549,;MSLN,missense_variant,p.Val74Met,ENST00000545450,NM_005823.5;MSLN,missense_variant,p.Val74Met,ENST00000382862,NM_013404.4;MSLN,missense_variant,p.Val74Met,ENST00000563941,NM_001177355.1;MSLN,missense_variant,p.Val74Met,ENST00000563651,;MSLN,missense_variant,p.Val74Met,ENST00000569566,;MSLN,upstream_gene_variant,,ENST00000561896,;MSLN,upstream_gene_variant,,ENST00000566269,;	A	ENST00000382862	Transcript	missense_variant	315/2116	220/1893	74/630	V/M	Gtg/Atg		1		1	MSLN	HGNC	HGNC:7371	protein_coding	YES	CCDS32356.1	ENSP00000372313	Q13421		UPI000004EC9C	NM_013404.4	deleterious(0.02)		5/17		hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF6,Pfam_domain:PF06060																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	24	764063	764063	G	A	1	0	0	0	0	1	0	0	0	9863	1261	44	3		3	MSLN	16	764063	Missense_Mutation	SNP	G	C3L-01632_TP		764063	89574282	155	7748											
ABCA3	0	.	GRCh38	chr16	2297913	2297913	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcacttctgacgtgacagGcccttcagctgcaacgacag	9	7	12	13	2	2	2	1	2	1	0	2	3	2	2	1	2	3	3	1	2	1	2	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1905C>T	p.=	p.G635G	ENST00000301732	16/33	194	165	29	313	313	0	strelka-varscan-mutect	ABCA3,synonymous_variant,p.=,ENST00000301732,NM_001089.2;ABCA3,synonymous_variant,p.=,ENST00000382381,;ABCA3,non_coding_transcript_exon_variant,,ENST00000563623,;	A	ENST00000301732	Transcript	synonymous_variant	2606/6609	1905/5115	635/1704	G	ggC/ggT		1		-1	ABCA3	HGNC	HGNC:33	protein_coding	YES	CCDS10466.1	ENSP00000301732	Q99758		UPI0000001232	NM_001089.2			16/33		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	24	2297913	2297913	G	A	1	0	0	0	0	0	0	0	1	37	1190	42	3		3	ABCA3	16	2297913	Silent	SNP	G	C3L-01632_TP	1533850	2297913	88040432	156	7749											
DNAH3	0	.	GRCh38	chr16	20933285	20933285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagggttcctctgcgggCacttgttttgtagactggac	6	12	15	8	1	1	2	0	0	1	2	2	4	2	3	1	4	1	4	1	4	1	5	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.12220G>C	p.Ala4074Pro	p.A4074P	ENST00000261383	62/62	261	236	25	320	320	0	strelka-varscan-mutect	DNAH3,missense_variant,p.Ala4074Pro,ENST00000261383,NM_017539.2;	G	ENST00000261383	Transcript	missense_variant	12220/12394	12220/12351	4074/4116	A/P	Gcc/Ccc		1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2	deleterious(0.03)		62/62		hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676,Pfam_domain:PF03028																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	24	20933285	20933285	C	G	1	0	0	0	0	1	0	0	0	4418	710	25	4		4	DNAH3	16	20933285	Missense_Mutation	SNP	C	C3L-01632_TP	18635372	20933285	69405060	157	7750											
RP11-457D20.2	0	.	GRCh38	chr16	60358762	60358762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aactgtggccggcagctctgGgtggagaagacctacttgat	9	9	14	9	1	1	3	0	1	1	2	1	4	1	3	2	4	3	2	2	4	3	2	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.719C>A	p.Pro240His	p.P240H	ENST00000614215	1/1	155	141	14	301	301	0	varscan-mutect	RP11-457D20.2,missense_variant,p.Pro240His,ENST00000614215,NM_001282301.1;RP11-354I13.2,upstream_gene_variant,,ENST00000565506,;RP11-354I13.2,upstream_gene_variant,,ENST00000565133,;RP11-457D20.1,downstream_gene_variant,,ENST00000563482,;	T	ENST00000614215	Transcript	missense_variant	719/1026	719/1026	240/341	P/H	cCc/cAc		1		-1	RP11-457D20.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000482925	A8MU76		UPI00017616FE	NM_001282301.1	deleterious(0)		1/1		Pfam_domain:PF15229,hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF76																	MODERATE		SNV				1										PASS		.	.												T	3	4	24	60358762	60358762	G	T	1	0	0	0	0	1	0	0	0	13744	1232	43	2		2	RP11-457D20.2	16	60358762	Missense_Mutation	SNP	G	C3L-01632_TP	39425477	60358762	29979583	158	7751											
TSNAXIP1	0	.	GRCh38	chr16	67827481	67827481	+	Frame_Shift_Del	DEL	G	G	-																															ggcccctcccaggatgaggaGggccagagtgagccctttgt																								novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1802delG	p.Gly601AlafsTer25	p.G601Afs*25	ENST00000561639	15/16	139	126	13	275	275	0	varindel-pindel	TSNAXIP1,frameshift_variant,p.Gly547AlafsTer25,ENST00000388833,NM_018430.3;TSNAXIP1,frameshift_variant,p.Gly532AlafsTer25,ENST00000415766,NM_001288993.1,NM_001288992.1,NM_001288991.1;TSNAXIP1,frameshift_variant,p.Gly601AlafsTer25,ENST00000561639,NM_001288990.1;TSNAXIP1,frameshift_variant,p.Gly418AlafsTer?,ENST00000431934,;CENPT,downstream_gene_variant,,ENST00000562787,NM_025082.3;CENPT,downstream_gene_variant,,ENST00000440851,;CENPT,downstream_gene_variant,,ENST00000626059,;CENPT,downstream_gene_variant,,ENST00000564817,;CENPT,downstream_gene_variant,,ENST00000566758,;TSNAXIP1,downstream_gene_variant,,ENST00000567852,;CENPT,downstream_gene_variant,,ENST00000561593,;TSNAXIP1,downstream_gene_variant,,ENST00000565148,;TSNAXIP1,downstream_gene_variant,,ENST00000561654,;CENPT,downstream_gene_variant,,ENST00000562947,;CENPT,downstream_gene_variant,,ENST00000564538,;TSNAXIP1,downstream_gene_variant,,ENST00000562321,;TSNAXIP1,3_prime_UTR_variant,,ENST00000568990,;TSNAXIP1,3_prime_UTR_variant,,ENST00000466164,;TSNAXIP1,non_coding_transcript_exon_variant,,ENST00000487120,;TSNAXIP1,non_coding_transcript_exon_variant,,ENST00000569504,;TSNAXIP1,non_coding_transcript_exon_variant,,ENST00000565339,;CENPT,downstream_gene_variant,,ENST00000569862,;CENPT,downstream_gene_variant,,ENST00000564128,;CENPT,downstream_gene_variant,,ENST00000565157,;CENPT,downstream_gene_variant,,ENST00000436104,;CENPT,downstream_gene_variant,,ENST00000563885,;CENPT,downstream_gene_variant,,ENST00000562513,;CENPT,downstream_gene_variant,,ENST00000568495,;CENPT,downstream_gene_variant,,ENST00000562462,;CENPT,downstream_gene_variant,,ENST00000574569,;CENPT,downstream_gene_variant,,ENST00000565713,;TSNAXIP1,upstream_gene_variant,,ENST00000565558,;CENPT,downstream_gene_variant,,ENST00000562483,;CENPT,downstream_gene_variant,,ENST00000566067,;TSNAXIP1,downstream_gene_variant,,ENST00000563363,;CENPT,downstream_gene_variant,,ENST00000562338,;CENPT,downstream_gene_variant,,ENST00000568564,;CENPT,downstream_gene_variant,,ENST00000568069,;	-	ENST00000561639	Transcript	frameshift_variant	1845/2258	1800/2139	600/712	E/X	gaG/ga		1		1	TSNAXIP1	HGNC	HGNC:18586	protein_coding	YES	CCDS73903.1	ENSP00000457241		B4DXD0	UPI00017A80C1	NM_001288990.1			15/16		hmmpanther:PTHR16306,hmmpanther:PTHR16306:SF0																	HIGH	1	deletion	2	2		1										PASS		.	.												-	7	5	24	67827481	67827481	G	-	1	0	1	0	1	0	0	0	0	17137	991	35	0		0	TSNAXIP1	16	67827481	Frame_Shift_Del	DEL	G	C3L-01632_TP	7468719	67827481	22510864	159	7752											
OR3A2	0	.	GRCh38	chr17	3278389	3278389	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcacagtagaagtgattgaCctcattggggccacagaagt	12	9	12	8	0	2	4	2	2	0	2	2	4	2	4	2	2	0	1	2	2	3	3	rs772174674		C3L-01632_TP	C3L-01632_NB	C	C																c.547G>T	p.Val183Phe	p.V183F	ENST00000408891	1/1	241	223	18	399	398	1	varscan-mutect	OR3A2,missense_variant,p.Val183Phe,ENST00000408891,NM_002551.3;RP11-64J4.2,downstream_gene_variant,,ENST00000573491,;RP11-64J4.2,downstream_gene_variant,,ENST00000576166,;	A	ENST00000408891	Transcript	missense_variant	586/1076	547/966	183/321	V/F	Gtc/Ttc	rs772174674,COSM3516051	1		-1	OR3A2	HGNC	HGNC:8283	protein_coding	YES	CCDS42233.1	ENSP00000386180	P47893	A0A126GVQ3	UPI0000050B3C	NM_002551.3	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF449,Superfamily_domains:SSF81321											0,1						MODERATE		SNV			0,1	1										PASS		rs772174674	.												A	3	1	24	3278389	3278389	C	A	1	0	0	0	0	1	0	0	0	11115	507	18	2		2	OR3A2	17	3278389	Missense_Mutation	SNP	C	C3L-01632_TP		3278389	79979052	160	7753											
OR3A3	0	.	GRCh38	chr17	3421173	3421173	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctcctgctccagcacccaActcaatgagctgctgctctt	7	11	6	17	0	3	1	1	1	2	0	5	1	4	1	3	0	6	5	3	0	2	1	novel		C3L-01632_TP	C3L-01632_NB	A	A																c.606A>G	p.=	p.Q202Q	ENST00000291231	1/1	324	256	68	554	553	1	strelka-varscan-mutect	OR3A3,synonymous_variant,p.=,ENST00000291231,NM_012373.2;	G	ENST00000291231	Transcript	synonymous_variant	606/966	606/966	202/321	Q	caA/caG		1		1	OR3A3	HGNC	HGNC:8284	protein_coding	YES	CCDS11025.1	ENSP00000291231	P47888		UPI000013E033	NM_012373.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF7,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												G	2	3	24	3421173	3421173	A	G	1	0	0	0	0	0	0	0	1	11116	40	2	5		5	OR3A3	17	3421173	Silent	SNP	A	C3L-01632_TP	142784	3421173	79836268	161	7754											
P2RX1	0	.	GRCh38	chr17	3916096	3916096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccggactcacccgatgaCgtagaccaggaccaccagct	10	4	10	17	4	1	2	1	1	0	1	1	5	1	4	5	2	1	2	5	2	1	1	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.130G>T	p.Val44Phe	p.V44F	ENST00000225538	1/12	155	135	20	232	232	0	strelka-varscan-mutect	P2RX1,missense_variant,p.Val44Phe,ENST00000225538,NM_002558.3;P2RX1,missense_variant,p.Val44Phe,ENST00000571637,;P2RX1,non_coding_transcript_exon_variant,,ENST00000572418,;	A	ENST00000225538	Transcript	missense_variant	405/2697	130/1200	44/399	V/F	Gtc/Ttc		1		-1	P2RX1	HGNC	HGNC:8533	protein_coding	YES	CCDS11040.1	ENSP00000225538	P51575		UPI000000DAAB	NM_002558.3	deleterious(0.02)		1/12		Transmembrane_helices:TMhelix,hmmpanther:PTHR10125:SF9,hmmpanther:PTHR10125,TIGRFAM_domain:TIGR00863,PIRSF_domain:PIRSF005713,Pfam_domain:PF00864																	MODERATE	1	SNV	1			1										PASS		rs1454866122	.												A	3	1	24	3916096	3916096	C	A	1	0	0	0	0	1	0	0	0	11412	536	19	1		1	P2RX1	17	3916096	Missense_Mutation	SNP	C	C3L-01632_TP	494923	3916096	79341345	162	7755											
ARHGEF15	0	.	GRCh38	chr17	8312370	8312370	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcgctccgcctccccaGaacctgctccccggtctcca	4	6	8	23	4	1	1	0	0	1	1	5	1	4	1	9	2	2	2	9	2	1	0	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.331G>T	p.Glu111Ter	p.E111*	ENST00000361926	2/16	40	31	9	109	108	1	strelka-mutect	ARHGEF15,stop_gained,p.Glu111Ter,ENST00000361926,NM_173728.3;ARHGEF15,stop_gained,p.Glu111Ter,ENST00000421050,NM_025014.1;ARHGEF15,stop_gained,p.Glu111Ter,ENST00000579439,;ARHGEF15,stop_gained,p.Glu111Ter,ENST00000583529,;ARHGEF15,non_coding_transcript_exon_variant,,ENST00000455564,;ARHGEF15,upstream_gene_variant,,ENST00000581809,;ARHGEF15,upstream_gene_variant,,ENST00000578286,;	T	ENST00000361926	Transcript	stop_gained	441/4159	331/2526	111/841	E/*	Gaa/Taa		1		1	ARHGEF15	HGNC	HGNC:15590	protein_coding	YES	CCDS11139.1	ENSP00000355026	O94989	A0A0S2Z547	UPI000013D2C0	NM_173728.3			2/16		hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF7,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	24	8312370	8312370	G	T	1	0	0	0	0	0	1	0	0	1028	943	33	2		2	ARHGEF15	17	8312370	Nonsense_Mutation	SNP	G	C3L-01632_TP	4396274	8312370	74945071	163	7756											
MYH8	0	.	GRCh38	chr17	10394252	10394252	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatgtgagggtctcacctgGgtgtggaggagctggacacg	7	9	18	7	1	1	2	1	2	1	0	2	5	1	5	1	5	1	1	1	5	0	0	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.5163C>A	p.=	p.T1721T	ENST00000403437	35/40	390	313	77	606	606	0	strelka-varscan-mutect	MYH8,synonymous_variant,p.=,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000403437	Transcript	synonymous_variant	5258/6041	5163/5814	1721/1937	T	acC/acA		1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2			35/40		hmmpanther:PTHR13140:SF368,hmmpanther:PTHR13140,Pfam_domain:PF01576																	LOW		SNV	5			1										PASS		.	.												T	2	4	24	10394252	10394252	G	T	1	0	0	0	0	0	0	0	1	10041	1246	43	2		2	MYH8	17	10394252	Silent	SNP	G	C3L-01632_TP	2081882	10394252	72863189	164	7757											
SPECC1	0	.	GRCh38	chr17	20247317	20247317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgctgtctctccaatgCaggtagatgagccccagaaa	11	8	10	12	0	1	3	0	1	1	2	3	3	2	3	3	1	4	4	3	1	3	1	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.2596C>A	p.Gln866Lys	p.Q866K	ENST00000261503	9/15	172	163	9	156	156	0	strelka-varscan-mutect	SPECC1,missense_variant,p.Gln785Lys,ENST00000395530,NM_001033555.2;SPECC1,missense_variant,p.Gln866Lys,ENST00000261503,NM_001033553.2;SPECC1,missense_variant,p.Gln866Lys,ENST00000395527,NM_001243439.1;SPECC1,missense_variant,p.Gln371Lys,ENST00000581399,;AC004702.2,intron_variant,,ENST00000580225,;	A	ENST00000261503	Transcript	missense_variant,splice_region_variant	2647/3948	2596/3207	866/1068	Q/K	Cag/Aag		1		1	SPECC1	HGNC	HGNC:30615	protein_coding	YES	CCDS32590.1	ENSP00000261503	Q5M775	A0A024QYY9	UPI000020187D	NM_001033553.2	deleterious(0.03)		9/15		hmmpanther:PTHR23167,hmmpanther:PTHR23167:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	20247317	20247317	C	A	1	0	0	0	0	1	0	0	0	15383	724	25	2		2	SPECC1	17	20247317	Missense_Mutation	SNP	C	C3L-01632_TP	9853065	20247317	63010124	165	7758											
TNFAIP1	0	.	GRCh38	chr17	28344519	28344519	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagacctttgaactgcgggaCcgtgtccgccgcatccacgt	7	8	12	14	5	0	2	0	1	0	1	2	4	2	3	5	1	2	1	5	1	1	1	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.870C>T	p.=	p.D290D	ENST00000226225	7/7	342	299	43	542	542	0	strelka-varscan-mutect	TNFAIP1,synonymous_variant,p.=,ENST00000226225,NM_021137.4;TNFAIP1,synonymous_variant,p.=,ENST00000544907,;POLDIP2,downstream_gene_variant,,ENST00000540200,NM_015584.4;POLDIP2,downstream_gene_variant,,ENST00000618887,NM_001290145.1;TNFAIP1,downstream_gene_variant,,ENST00000582302,;TNFAIP1,downstream_gene_variant,,ENST00000578158,;TNFAIP1,downstream_gene_variant,,ENST00000577535,;TNFAIP1,downstream_gene_variant,,ENST00000583213,;	T	ENST00000226225	Transcript	synonymous_variant	1137/3627	870/951	290/316	D	gaC/gaT		1		1	TNFAIP1	HGNC	HGNC:11894	protein_coding	YES	CCDS11227.1	ENSP00000226225	Q13829		UPI00001370D5	NM_021137.4			7/7		hmmpanther:PTHR11145,hmmpanther:PTHR11145:SF17																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	24	28344519	28344519	C	T	1	0	0	0	0	0	0	0	1	16746	506	18	3		3	TNFAIP1	17	28344519	Silent	SNP	C	C3L-01632_TP	8097202	28344519	54912922	166	7759											
CNTNAP1	0	.	GRCh38	chr17	42698708	42698708	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagggctcctaccataccaAtgagcccaaggctgcccacg	11	6	9	15	1	0	1	0	1	0	0	1	1	1	1	5	2	4	2	5	2	5	3	novel		C3L-01632_TP	C3L-01632_NB	A	A																c.3953A>G	p.Asn1318Ser	p.N1318S	ENST00000264638	24/24	152	124	28	236	236	0	strelka-varscan-mutect	CNTNAP1,missense_variant,p.Asn1318Ser,ENST00000264638,NM_003632.2;EZH1,downstream_gene_variant,,ENST00000428826,NM_001321079.1,NM_001991.3;EZH1,downstream_gene_variant,,ENST00000415827,NM_001321081.1;EZH1,downstream_gene_variant,,ENST00000592743,;EZH1,downstream_gene_variant,,ENST00000585893,;EZH1,downstream_gene_variant,,ENST00000590078,;CTD-3193K9.3,intron_variant,,ENST00000592440,;CNTNAP1,3_prime_UTR_variant,,ENST00000591662,;EZH1,downstream_gene_variant,,ENST00000586103,;EZH1,downstream_gene_variant,,ENST00000591330,;EZH1,downstream_gene_variant,,ENST00000585912,;EZH1,downstream_gene_variant,,ENST00000588897,;EZH1,downstream_gene_variant,,ENST00000585550,;EZH1,downstream_gene_variant,,ENST00000586714,;	G	ENST00000264638	Transcript	missense_variant	4170/5276	3953/4155	1318/1384	N/S	aAt/aGt		1		1	CNTNAP1	HGNC	HGNC:8011	protein_coding	YES	CCDS11436.1	ENSP00000264638	P78357		UPI00001285F6	NM_003632.2	deleterious(0.04)		24/24		SMART_domains:SM00294																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	24	42698708	42698708	A	G	1	0	0	0	0	1	0	0	0	3427	101	4	5		5	CNTNAP1	17	42698708	Missense_Mutation	SNP	A	C3L-01632_TP	14354189	42698708	40558733	167	7760											
KANSL1	0	.	GRCh38	chr17	46034271	46034271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagctctctccccttctcctCcttactggctgctgctgtaa	4	14	7	16	0	2	0	0	0	2	0	6	1	4	0	4	1	4	5	4	1	2	3	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.2556G>T	p.Arg852Ser	p.R852S	ENST00000262419	11/15	300	277	23	460	458	2	strelka-varscan-mutect	KANSL1,missense_variant,p.Arg852Ser,ENST00000262419,NM_001193466.1;KANSL1,missense_variant,p.Arg852Ser,ENST00000574590,;KANSL1,missense_variant,p.Arg851Ser,ENST00000432791,NM_001193465.1;KANSL1,missense_variant,p.Arg852Ser,ENST00000572904,NM_015443.3;KANSL1,missense_variant,p.Arg788Ser,ENST00000575318,;RP11-669E14.6,upstream_gene_variant,,ENST00000570454,;KANSL1,non_coding_transcript_exon_variant,,ENST00000572218,;KANSL1,non_coding_transcript_exon_variant,,ENST00000576870,;KANSL1,non_coding_transcript_exon_variant,,ENST00000576137,;KANSL1,upstream_gene_variant,,ENST00000574963,;KANSL1,downstream_gene_variant,,ENST00000573286,;KANSL1,downstream_gene_variant,,ENST00000572679,;KANSL1,upstream_gene_variant,,ENST00000573682,;	A	ENST00000262419	Transcript	missense_variant	3027/5309	2556/3318	852/1105	R/S	agG/agT		1		-1	KANSL1	HGNC	HGNC:24565	protein_coding	YES	CCDS11503.2	ENSP00000262419	Q7Z3B3	A0A024R9Y2	UPI000013D2AE	NM_001193466.1	deleterious(0.02)		11/15		hmmpanther:PTHR22443:SF14,hmmpanther:PTHR22443																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	46034271	46034271	C	A	1	0	0	0	0	1	0	0	0	7889	854	30	2		2	KANSL1	17	46034271	Missense_Mutation	SNP	C	C3L-01632_TP	3335563	46034271	37223170	168	7761											
TTLL6	0	.	GRCh38	chr17	48770059	48770059	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttggggagattgagagttgGgtggtggattctggggtggt	5	14	21	1	0	1	2	0	1	1	2	1	5	1	3	0	8	0	1	0	8	0	4	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.2079C>A	p.=	p.T693T	ENST00000393382	14/16	67	59	8	181	178	3	strelka-varscan-mutect	TTLL6,synonymous_variant,p.=,ENST00000393382,NM_001130918.1;TTLL6,synonymous_variant,p.=,ENST00000433608,NM_173623.3;RN7SL125P,upstream_gene_variant,,ENST00000480790,;TTLL6,non_coding_transcript_exon_variant,,ENST00000490027,;TTLL6,intron_variant,,ENST00000376681,;TTLL6,intron_variant,,ENST00000416950,;	T	ENST00000393382	Transcript	synonymous_variant	2221/3551	2079/2676	693/891	T	acC/acA		1		-1	TTLL6	HGNC	HGNC:26664	protein_coding	YES	CCDS45724.1	ENSP00000377043	Q8N841		UPI00017BCE80	NM_001130918.1			14/16																			LOW	1	SNV	2			1										PASS		.	.												T	2	4	24	48770059	48770059	G	T	1	0	0	0	0	0	0	0	1	17242	1219	43	2		2	TTLL6	17	48770059	Silent	SNP	G	C3L-01632_TP	2735788	48770059	34487382	169	7762											
DLX3	0	.	GRCh38	chr17	49994913	49994913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagactcgggcagggtaggcGagtccttggagcccgcatgg	8	6	17	10	3	0	1	0	0	0	1	2	3	1	2	2	5	1	3	2	5	2	2	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.86C>T	p.Ser29Leu	p.S29L	ENST00000434704	1/3	200	189	11	347	347	0	strelka-varscan-mutect	DLX3,missense_variant,p.Ser29Leu,ENST00000434704,NM_005220.2;DLX3,upstream_gene_variant,,ENST00000512495,;RP11-1094H24.3,upstream_gene_variant,,ENST00000511867,;	A	ENST00000434704	Transcript	missense_variant	312/2602	86/864	29/287	S/L	tCg/tTg		1		-1	DLX3	HGNC	HGNC:2916	protein_coding	YES	CCDS11556.1	ENSP00000389870	O60479		UPI00001294B0	NM_005220.2	deleterious(0.03)		1/3		Pfam_domain:PF12413,hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	49994913	49994913	G	A	1	0	0	0	0	1	0	0	0	4379	1059	37	1		1	DLX3	17	49994913	Missense_Mutation	SNP	G	C3L-01632_TP	1224854	49994913	33262528	170	7763											
CACNA1G	0	.	GRCh38	chr17	50626682	50626682	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacagcatggctgcctcGccctccccaaagaaagatgt	10	7	9	15	1	0	3	0	1	0	2	2	3	1	3	5	1	2	2	5	1	2	0			C3L-01632_TP	C3L-01632_NB	G	G																c.7065G>T	p.=	p.S2355S	ENST00000359106	38/38	132	106	26	236	236	0	strelka-varscan-mutect	CACNA1G,synonymous_variant,p.=,ENST00000354983,NM_198396.2;CACNA1G,synonymous_variant,p.=,ENST00000352832,NM_198387.2;CACNA1G,synonymous_variant,p.=,ENST00000359106,NM_018896.4;CACNA1G,synonymous_variant,p.=,ENST00000360761,NM_198382.2;CACNA1G,synonymous_variant,p.=,ENST00000442258,NM_198388.2;CACNA1G,synonymous_variant,p.=,ENST00000429973,NM_198386.2;CACNA1G,synonymous_variant,p.=,ENST00000507336,NM_198377.2;CACNA1G,synonymous_variant,p.=,ENST00000358244,NM_198376.2;CACNA1G,synonymous_variant,p.=,ENST00000507510,NM_198385.2;CACNA1G,synonymous_variant,p.=,ENST00000515765,NM_198380.2;CACNA1G,synonymous_variant,p.=,ENST00000515411,NM_001256324.1;CACNA1G,synonymous_variant,p.=,ENST00000502264,NM_198383.2;CACNA1G,synonymous_variant,p.=,ENST00000510115,NM_198379.2;CACNA1G,synonymous_variant,p.=,ENST00000514079,NM_001256325.1;CACNA1G,synonymous_variant,p.=,ENST00000513689,NM_001256326.1;CACNA1G,synonymous_variant,p.=,ENST00000515165,NM_198384.2;CACNA1G,synonymous_variant,p.=,ENST00000507609,NM_001256327.1;CACNA1G,synonymous_variant,p.=,ENST00000512389,NM_198378.2;CACNA1G,synonymous_variant,p.=,ENST00000514181,NM_001256328.1;CACNA1G,synonymous_variant,p.=,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,synonymous_variant,p.=,ENST00000513964,NM_001256360.1,NM_001256361.1,NM_001256330.1;CACNA1G,synonymous_variant,p.=,ENST00000510366,NM_001256331.1;CACNA1G,synonymous_variant,p.=,ENST00000514717,NM_001256332.1;CACNA1G,synonymous_variant,p.=,ENST00000505165,NM_001256333.1;CACNA1G,synonymous_variant,p.=,ENST00000507896,NM_001256334.1;CTB-22K21.2,downstream_gene_variant,,ENST00000502435,;CACNA1G,3_prime_UTR_variant,,ENST00000506406,;CACNA1G,3_prime_UTR_variant,,ENST00000504076,;CACNA1G,3_prime_UTR_variant,,ENST00000511765,;CACNA1G,3_prime_UTR_variant,,ENST00000503436,;CACNA1G,3_prime_UTR_variant,,ENST00000511768,;CACNA1G,3_prime_UTR_variant,,ENST00000503607,;	T	ENST00000359106	Transcript	synonymous_variant	7065/7648	7065/7134	2355/2377	S	tcG/tcT	COSM3192739,COSM3192740,COSM3192741	1		1	CACNA1G	HGNC	HGNC:1394	protein_coding	YES	CCDS45730.1	ENSP00000352011	O43497		UPI000012727A	NM_018896.4			38/38													1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		rs1033768096	.												T	2	4	24	50626682	50626682	G	T	1	0	0	0	0	0	0	0	1	2232	1074	38	1		1	CACNA1G	17	50626682	Silent	SNP	G	C3L-01632_TP	631769	50626682	32630759	171	7764											
KIF2B	0	.	GRCh38	chr17	53823526	53823526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgggaaaagcgcaggCggctgcagcaggagatccga	12	2	17	10	4	0	1	0	0	0	1	1	4	1	2	1	4	5	5	1	4	2	0	rs374635000		C3L-01632_TP	C3L-01632_NB	C	C																c.493C>T	p.Arg165Trp	p.R165W	ENST00000268919	1/1	162	151	11	335	335	0	strelka-varscan-mutect	KIF2B,missense_variant,p.Arg165Trp,ENST00000268919,NM_032559.4;	T	ENST00000268919	Transcript	missense_variant	626/2313	493/2022	165/673	R/W	Cgg/Tgg	rs374635000,COSM4755188	1		1	KIF2B	HGNC	HGNC:29443	protein_coding	YES	CCDS32685.1	ENSP00000268919	Q8N4N8	A0A140VKG5	UPI000013D7E6	NM_032559.4	tolerated(0.19)		1/1		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil											0,1						MODERATE	1	SNV			0,1	1										PASS		rs374635000	.												T	3	4	24	53823526	53823526	C	T	1	0	0	0	0	1	0	0	0	8163	759	27	1		1	KIF2B	17	53823526	Missense_Mutation	SNP	C	C3L-01632_TP	3196844	53823526	29433915	172	7765											
ANKRD62	0	.	GRCh38	chr18	12125941	12125941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattctttctcagcaactttCtaaagctgagagtacatcca	12	13	6	10	0	3	1	1	1	3	1	5	3	4	1	1	0	4	3	1	0	4	5	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.2120C>G	p.Ser707Cys	p.S707C	ENST00000587848	13/14	148	121	27	183	183	0	strelka-varscan-mutect	ANKRD62,missense_variant,p.Ser707Cys,ENST00000587848,NM_001277333.1;ANKRD62,non_coding_transcript_exon_variant,,ENST00000418274,;	G	ENST00000587848	Transcript	missense_variant	2285/2919	2120/2754	707/917	S/C	tCt/tGt		1		1	ANKRD62	HGNC	HGNC:35241	protein_coding	YES	CCDS67439.1	ENSP00000467740	A6NC57		UPI0000DD848C	NM_001277333.1	deleterious(0.01)		13/14		hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF29,Pfam_domain:PF14915,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	5			1										PASS		rs1221984172	.												G	3	3	24	12125941	12125941	C	G	1	0	0	0	0	1	0	0	0	789	913	32	4		4	ANKRD62	18	12125941	Missense_Mutation	SNP	C	C3L-01632_TP		12125941	68247344	173	7766											
OR7G3	0	.	GRCh38	chr19	9126193	9126193	+	Missense_Mutation	SNP	C	C	A																															ggtacaccccaaaccctgttCcataaaacaaggaaacaacg																								novel		C3L-01632_TP	C3L-01632_NB	C	C																c.758G>T	p.Gly253Val	p.G253V	ENST00000305444	1/1	153	121	32	270	270	0	strelka-varscan-mutect	OR7G3,missense_variant,p.Gly253Val,ENST00000305444,NM_001001958.1;OR7G15P,upstream_gene_variant,,ENST00000617262,;	A	ENST00000305444	Transcript	missense_variant	758/939	758/939	253/312	G/V	gGa/gTa		1		-1	OR7G3	HGNC	HGNC:8467	protein_coding	YES	CCDS32899.1	ENSP00000302867	Q8NG95	A0A126GVR4	UPI0000041C0E	NM_001001958.1	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF415,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	24	9126193	9126193	C	A	1	0	0	0	0	1	0	0	0	11294	855	30	2		2	OR7G3	19	9126193	Missense_Mutation	SNP	C	C3L-01632_TP		9126193	49491423	174	7767	176	2									
OR7G3	0	.	GRCh38	chr19	9126194	9126194	+	Missense_Mutation	SNP	C	C	T																															gtacaccccaaaccctgttcCataaaacaaggaaacaacga																								novel		C3L-01632_TP	C3L-01632_NB	C	C																c.757G>A	p.Gly253Arg	p.G253R	ENST00000305444	1/1	153	121	32	272	272	0	strelka-varscan-mutect	OR7G3,missense_variant,p.Gly253Arg,ENST00000305444,NM_001001958.1;OR7G15P,upstream_gene_variant,,ENST00000617262,;	T	ENST00000305444	Transcript	missense_variant	757/939	757/939	253/312	G/R	Gga/Aga		1		-1	OR7G3	HGNC	HGNC:8467	protein_coding	YES	CCDS32899.1	ENSP00000302867	Q8NG95	A0A126GVR4	UPI0000041C0E	NM_001001958.1	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF415,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	24	9126194	9126194	C	T	1	0	0	0	0	1	0	0	0	11294	603	21	3		3	OR7G3	19	9126194	Missense_Mutation	SNP	C	C3L-01632_TP	1	9126194	49491422	175	7768	176	2									
KEAP1	0	.	GRCh38	chr19	10499694	10499694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccctgctcccgcagccCgttggtgaacatggccttga	6	9	11	15	2	0	2	0	2	0	0	1	2	1	2	4	2	4	3	4	2	1	2			C3L-01632_TP	C3L-01632_NB	C	C																c.340G>T	p.Gly114Trp	p.G114W	ENST00000171111	2/6	136	105	31	309	309	0	strelka-varscan-mutect	KEAP1,missense_variant,p.Gly114Trp,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Gly114Trp,ENST00000393623,NM_012289.3;KEAP1,missense_variant,p.Gly114Trp,ENST00000591419,;KEAP1,missense_variant,p.Gly114Trp,ENST00000592055,;KEAP1,missense_variant,p.Gly114Trp,ENST00000591039,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000585845,;	A	ENST00000171111	Transcript	missense_variant	888/2955	340/1875	114/624	G/W	Ggg/Tgg	COSM1725916	1		-1	KEAP1	HGNC	HGNC:23177	protein_coding	YES	CCDS12239.1	ENSP00000171111	Q14145	A0A024R7C0	UPI000007139C	NM_203500.1	deleterious(0)		2/6		PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF00651,Gene3D:3.30.710.10,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	24	10499694	10499694	C	A	1	0	0	0	0	1	0	0	0	8061	652	23	1		1	KEAP1	19	10499694	Missense_Mutation	SNP	C	C3L-01632_TP	1373500	10499694	48117922	176	7769											
SMARCA4	0	.	GRCh38	chr19	11030826	11030826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcagcacccgggctggggGgctcggcctgaacctccagt	5	6	15	15	2	1	1	1	1	0	0	3	1	2	1	4	5	2	4	4	5	1	0			C3L-01632_TP	C3L-01632_NB	G	G																c.3479G>A	p.Gly1160Glu	p.G1160E	ENST00000429416	26/36	184	174	10	369	369	0	strelka-varscan-mutect	SMARCA4,missense_variant,p.Gly1160Glu,ENST00000429416,NM_001128844.1;SMARCA4,missense_variant,p.Gly1224Glu,ENST00000413806,;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000450717,NM_001128849.1;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000344626,NM_003072.3;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000590574,NM_001128847.1;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000589677,NM_001128846.1;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000541122,NM_001128845.1;SMARCA4,missense_variant,p.Gly1160Glu,ENST00000444061,NM_001128848.1;SMARCA4,missense_variant,p.Gly5Glu,ENST00000592158,;uc_338,upstream_gene_variant,,ENST00000620113,;SMARCA4,upstream_gene_variant,,ENST00000538456,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,upstream_gene_variant,,ENST00000586892,;	A	ENST00000429416	Transcript	missense_variant	3760/5691	3479/4944	1160/1647	G/E	gGg/gAg	COSM4915594,COSM4915595	1		1	SMARCA4	HGNC	HGNC:11100	protein_coding	YES	CCDS12253.1	ENSP00000395654	P51532	A7E2E1	UPI000006F973	NM_001128844.1	deleterious(0)		26/36		PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												A	3	1	24	11030826	11030826	G	A	1	0	0	0	0	1	0	0	0	15063	1232	43	3		3	SMARCA4	19	11030826	Missense_Mutation	SNP	G	C3L-01632_TP	531132	11030826	47586790	177	7770											
ZNF493	0	.	GRCh38	chr19	21423363	21423363	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagagttcatactggagAgaaatcctacaaatatgaat	17	9	9	6	0	1	3	1	1	0	2	2	6	2	4	1	2	2	1	1	2	6	4	novel		C3L-01632_TP	C3L-01632_NB	A	A																c.704A>G	p.Glu235Gly	p.E235G	ENST00000392288	4/4	124	105	19	268	268	0	strelka-varscan-mutect	ZNF493,missense_variant,p.Glu235Gly,ENST00000392288,NM_001076678.2;ZNF493,missense_variant,p.Glu107Gly,ENST00000355504,NM_175910.6;ZNF493,downstream_gene_variant,,ENST00000596302,;CTD-2561J22.3,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,;	G	ENST00000392288	Transcript	missense_variant	813/5023	704/2325	235/774	E/G	gAg/gGg		1		1	ZNF493	HGNC	HGNC:23708	protein_coding	YES	CCDS42536.1	ENSP00000376110	Q6ZR52		UPI000022ABBF	NM_001076678.2	deleterious(0.02)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF247,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	24	21423363	21423363	A	G	1	0	0	0	0	1	0	0	0	18517	304	11	5		5	ZNF493	19	21423363	Missense_Mutation	SNP	A	C3L-01632_TP	10392537	21423363	37194253	178	7771											
ZNF792	0	.	GRCh38	chr19	34960237	34960237	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcccatcgctgcttaccaGagccaggcctgccataagcc	8	7	9	17	1	0	1	0	0	0	1	2	1	1	1	6	1	5	3	6	1	2	2	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.281C>G	p.Ser94Cys	p.S94C	ENST00000404801	3/4	65	50	15	106	106	0	strelka-varscan-mutect	ZNF792,missense_variant,p.Ser94Cys,ENST00000404801,NM_175872.4;ZNF792,missense_variant,p.Ser27Cys,ENST00000605484,;	C	ENST00000404801	Transcript	missense_variant,splice_region_variant	668/3888	281/1899	94/632	S/C	tCt/tGt		1		-1	ZNF792	HGNC	HGNC:24751	protein_coding	YES	CCDS12440.2	ENSP00000385099	Q3KQV3		UPI0000202090	NM_175872.4	deleterious(0.01)		3/4		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF187																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	24	34960237	34960237	G	C	1	0	0	0	0	1	0	0	0	18749	956	33	4		4	ZNF792	19	34960237	Missense_Mutation	SNP	G	C3L-01632_TP	13536874	34960237	23657379	179	7772											
NPHS1	0	.	GRCh38	chr19	35849310	35849310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaagctctgtcctgcccGcacgtgcccctcatccaggc	5	8	8	20	2	2	0	1	0	1	0	5	0	5	0	6	1	3	2	6	1	1	0	rs386833960		C3L-01632_TP	C3L-01632_NB	G	G																c.766C>T	p.Arg256Trp	p.R256W	ENST00000378910	7/29	125	93	32	283	283	0	strelka-varscan-mutect	NPHS1,missense_variant,p.Arg256Trp,ENST00000378910,NM_004646.3;NPHS1,missense_variant,p.Arg256Trp,ENST00000353632,;NPHS1,downstream_gene_variant,,ENST00000591817,;NPHS1,upstream_gene_variant,,ENST00000585400,;NPHS1,upstream_gene_variant,,ENST00000592132,;	A	ENST00000378910	Transcript	missense_variant	766/4276	766/3726	256/1241	R/W	Cgg/Tgg	rs386833960,CM081720	1		-1	NPHS1	HGNC	HGNC:7908	protein_coding	YES	CCDS32996.1	ENSP00000368190	O60500		UPI000004EF61	NM_004646.3	deleterious(0)		7/29		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF31,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726										likely_pathogenic		18503012					MODERATE	1	SNV	1		1,1	1										PASS		rs386833960	.												A	3	1	24	35849310	35849310	G	A	1	0	0	0	0	1	0	0	0	10630	1086	38	1		1	NPHS1	19	35849310	Missense_Mutation	SNP	G	C3L-01632_TP	889073	35849310	22768306	180	7773											
ACTN4	0	.	GRCh38	chr19	38724472	38724472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggaccatgccctcctggaGgagcagagcaagcagcagtc	10	4	14	13	1	0	1	0	0	0	1	2	4	1	4	3	3	5	4	3	3	1	0	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1917G>T	p.Glu639Asp	p.E639D	ENST00000252699	16/21	515	441	74	902	902	0	strelka-varscan-mutect	ACTN4,missense_variant,p.Glu639Asp,ENST00000252699,NM_004924.4;ACTN4,missense_variant,p.Glu75Asp,ENST00000440400,;ACTN4,missense_variant,p.Glu420Asp,ENST00000390009,;ACTN4,missense_variant,p.Glu249Asp,ENST00000424234,;ACTN4,intron_variant,,ENST00000589528,;ACTN4,downstream_gene_variant,,ENST00000588618,;ACTN4,upstream_gene_variant,,ENST00000497637,;ACTN4,upstream_gene_variant,,ENST00000477174,;	T	ENST00000252699	Transcript	missense_variant	1993/4963	1917/2736	639/911	E/D	gaG/gaT		1		1	ACTN4	HGNC	HGNC:166	protein_coding	YES	CCDS12518.1	ENSP00000252699	O43707	A0A0S2Z3G9	UPI0000125093	NM_004924.4	tolerated(0.23)		16/21		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF271,Gene3D:1.20.58.60,Pfam_domain:PF00435,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		rs1314840744	.												T	3	4	24	38724472	38724472	G	T	1	0	0	0	0	1	0	0	0	251	991	35	2		2	ACTN4	19	38724472	Missense_Mutation	SNP	G	C3L-01632_TP	2875162	38724472	19893144	181	7774											
CCDC155	0	.	GRCh38	chr19	49407618	49407618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggctttcctagcgcactCgcgatgtggagagcctggcc	5	10	13	13	4	0	1	0	0	0	1	3	3	1	1	3	3	2	2	3	3	1	3	rs145761002		C3L-01632_TP	C3L-01632_NB	C	C																c.940C>A	p.Arg314Ser	p.R314S	ENST00000447857	12/20	219	173	46	368	368	0	strelka-varscan-mutect	CCDC155,missense_variant,p.Arg314Ser,ENST00000447857,NM_144688.4;CCDC155,missense_variant,p.Arg278Ser,ENST00000600570,;CCDC155,non_coding_transcript_exon_variant,,ENST00000596130,;CCDC155,upstream_gene_variant,,ENST00000593362,;CCDC155,upstream_gene_variant,,ENST00000596419,;	A	ENST00000447857	Transcript	missense_variant	1145/2378	940/1689	314/562	R/S	Cgc/Agc	rs145761002	1		1	CCDC155	HGNC	HGNC:26520	protein_coding	YES	CCDS46140.1	ENSP00000404220	Q8N6L0		UPI000006F690	NM_144688.4	tolerated(0.45)		12/20		Pfam_domain:PF14662,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF341																	MODERATE	1	SNV	1			1										PASS		rs145761002	.												A	3	1	24	49407618	49407618	C	A	1	0	0	0	0	1	0	0	0	2476	884	31	1		1	CCDC155	19	49407618	Missense_Mutation	SNP	C	C3L-01632_TP	10683146	49407618	9209998	182	7775											
PTH2	0	.	GRCh38	chr19	49423276	49423276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgccccagggcaccaccaGcagcagcagcagcagcagca	12	0	12	17	1	0	0	0	0	0	0	0	1	0	0	4	1	7	8	4	1	0	0	rs200733272		C3L-01632_TP	C3L-01632_NB	G	G																c.64C>G	p.Leu22Val	p.L22V	ENST00000270631	1/2	160	151	9	275	271	4	varscan-mutect	PTH2,missense_variant,p.Leu22Val,ENST00000270631,NM_178449.3;GFY,upstream_gene_variant,,ENST00000576655,;GFY,upstream_gene_variant,,ENST00000610896,NM_001195256.1;	C	ENST00000270631	Transcript	missense_variant	166/459	64/303	22/100	L/V	Ctg/Gtg	rs200733272	1		-1	PTH2	HGNC	HGNC:30828	protein_coding	YES	CCDS12763.1	ENSP00000270631	Q96A98		UPI000006DF4C	NM_178449.3	deleterious_low_confidence(0.02)		1/2		hmmpanther:PTHR28585,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs200733272	.												C	3	2	24	49423276	49423276	G	C	1	0	0	0	0	1	0	0	0	12915	962	34	4		4	PTH2	19	49423276	Missense_Mutation	SNP	G	C3L-01632_TP	15658	49423276	9194340	183	7776											
LILRB3	0	.	GRCh38	chr19	54221215	54221216	+	Frame_Shift_Ins	INS	-	-	A																															aagttggcctgggagagcccINSagcctggggctgctggccag																								novel		C3L-01632_TP	C3L-01632_NB	-	-																c.822dupT	p.Gly275TrpfsTer37	p.G275Wfs*37	ENST00000245620	5/13	59	43	16	92	92	0	sindel-varindel-pindel	LILRB3,frameshift_variant,p.Gly275TrpfsTer37,ENST00000391750,NM_006864.3;LILRB3,frameshift_variant,p.Gly275TrpfsTer37,ENST00000346401,;LILRB3,frameshift_variant,p.Gly275TrpfsTer37,ENST00000245620,NM_001081450.2;LILRB3,downstream_gene_variant,,ENST00000445347,;CTB-83J4.1,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,downstream_gene_variant,,ENST00000468668,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,upstream_gene_variant,,ENST00000436504,;	A	ENST00000245620	Transcript	frameshift_variant	824-825/2066	822-823/1899	274-275/632	-/X	-/T		1		-1	LILRB3	HGNC	HGNC:6607	protein_coding	YES	CCDS46175.1	ENSP00000245620	O75022		UPI00034F2393	NM_001081450.2			5/13		hmmpanther:PTHR11738:SF116,hmmpanther:PTHR11738,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	24	54221215	54221215	-	A	1	0	1	1	0	0	0	0	0	8700	594	21	0		0	LILRB3	19	54221215	Frame_Shift_Ins	INS	-	C3L-01632_TP	4797939	54221215	4396401	184	7777											
VSTM2L	0	.	GRCh38	chr20	37931714	37931714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgctccttccgcggcagCggctccccctcctactcgct	2	9	9	21	4	0	0	0	0	0	0	5	0	4	0	6	2	3	4	6	2	1	2	rs773073130		C3L-01632_TP	C3L-01632_NB	C	C																c.201C>A	p.Ser67Arg	p.S67R	ENST00000373461	2/4	215	185	30	285	285	0	strelka-varscan-mutect	VSTM2L,missense_variant,p.Ser67Arg,ENST00000373461,NM_080607.2;VSTM2L,missense_variant,p.Ser67Arg,ENST00000448944,;VSTM2L,intron_variant,,ENST00000373459,;	A	ENST00000373461	Transcript	missense_variant	448/1959	201/615	67/204	S/R	agC/agA	rs773073130	1		1	VSTM2L	HGNC	HGNC:16096	protein_coding	YES	CCDS13299.1	ENSP00000362560	Q96N03		UPI0000128674	NM_080607.2	deleterious(0)		2/4		PROSITE_profiles:PS50835,hmmpanther:PTHR10075,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs773073130	.												A	3	1	24	37931714	37931714	C	A	1	0	0	0	0	1	0	0	0	17782	767	27	1		1	VSTM2L	20	37931714	Missense_Mutation	SNP	C	C3L-01632_TP		37931714	26512453	185	7778											
TP53TG5	0	.	GRCh38	chr20	45375519	45375519	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctcctggaactcttcattAttttgttttgttttattgca	7	22	5	7	0	3	0	1	0	2	0	4	1	3	1	1	1	2	3	1	1	3	9	rs75989623		C3L-01632_TP	C3L-01632_NB	A	A																c.288T>A	p.Asn96Lys	p.N96K	ENST00000372726	4/5	86	81	5	237	235	2	varscan-mutect	TP53TG5,missense_variant,p.Asn96Lys,ENST00000372726,NM_014477.2;SYS1,3_prime_UTR_variant,,ENST00000426004,NM_001099791.2;TP53TG5,non_coding_transcript_exon_variant,,ENST00000494455,;SYS1-DBNDD2,intron_variant,,ENST00000475242,;TP53TG5,downstream_gene_variant,,ENST00000488588,;SYS1-DBNDD2,intron_variant,,ENST00000419593,;SYS1-DBNDD2,intron_variant,,ENST00000452133,;SYS1-DBNDD2,intron_variant,,ENST00000458187,;	T	ENST00000372726	Transcript	missense_variant	445/2374	288/873	96/290	N/K	aaT/aaA	rs75989623	1		-1	TP53TG5	HGNC	HGNC:15856	protein_coding	YES	CCDS13352.1	ENSP00000361811	Q9Y2B4		UPI000000165C	NM_014477.2	tolerated(0.14)		4/5		hmmpanther:PTHR15562,hmmpanther:PTHR15562:SF0,Pfam_domain:PF15331																	MODERATE	1	SNV	1			1										PASS		rs75989623	.												T	3	4	24	45375519	45375519	A	T	1	0	0	0	0	1	0	0	0	16870	446	16	4		4	TP53TG5	20	45375519	Missense_Mutation	SNP	A	C3L-01632_TP	7443805	45375519	19068648	186	7779											
RBM38	0	.	GRCh38	chr20	57391808	57391808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagacgggcaagtcccgcgGctacggcttcgtaagtggcc	7	6	14	14	5	0	1	0	0	0	1	2	1	1	1	3	4	1	4	3	4	3	3			C3L-01632_TP	C3L-01632_NB	G	G																c.227G>T	p.Gly76Val	p.G76V	ENST00000356208	1/4	118	95	23	198	198	0	strelka-varscan-mutect	RBM38,missense_variant,p.Gly76Val,ENST00000356208,NM_017495.5;RBM38,missense_variant,p.Gly76Val,ENST00000440234,NM_183425.2;RBM38,upstream_gene_variant,,ENST00000371219,;RP4-800J21.3,intron_variant,,ENST00000417346,;RBM38,missense_variant,p.Gly53Val,ENST00000344785,;RBM38,intron_variant,,ENST00000342690,;	T	ENST00000356208	Transcript	missense_variant	402/2382	227/720	76/239	G/V	gGc/gTc	COSM5653747	1		1	RBM38	HGNC	HGNC:15818	protein_coding	YES	CCDS46617.1	ENSP00000348538	Q9H0Z9		UPI00001C1571	NM_017495.5	deleterious(0)		1/4		PROSITE_profiles:PS50102,hmmpanther:PTHR24012,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	24	57391808	57391808	G	T	1	0	0	0	0	1	0	0	0	13298	1203	42	2		2	RBM38	20	57391808	Missense_Mutation	SNP	G	C3L-01632_TP	12016289	57391808	7052359	187	7780											
ADAMTS5	0	.	GRCh38	chr21	26934611	26934611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcacaccacaggcgaGcacagacatccatgccggga	13	2	10	16	2	0	1	0	0	0	1	1	3	1	2	4	2	3	2	4	2	0	0	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1544C>A	p.Ala515Asp	p.A515D	ENST00000284987	4/8	413	347	66	577	577	0	strelka-varscan-mutect	ADAMTS5,missense_variant,p.Ala515Asp,ENST00000284987,NM_007038.3;AP001601.2,intron_variant,,ENST00000426771,;	T	ENST00000284987	Transcript	missense_variant	1666/9056	1544/2793	515/930	A/D	gCt/gAt		1		-1	ADAMTS5	HGNC	HGNC:221	protein_coding	YES	CCDS13579.1	ENSP00000284987	Q9UNA0		UPI00001AEAC2	NM_007038.3	deleterious(0.01)		4/8		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF37,SMART_domains:SM00608																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	24	26934611	26934611	G	T	1	0	0	0	0	1	0	0	0	313	971	34	2		2	ADAMTS5	21	26934611	Missense_Mutation	SNP	G	C3L-01632_TP		26934611	19775372	188	7781											
CCT8L2	0	.	GRCh38	chr22	16592511	16592511	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgggttcagtgccagccGctggggcagctccagggctg	4	8	16	13	1	1	0	1	0	0	0	2	0	2	0	4	4	3	5	4	4	0	2	rs553618420		C3L-01632_TP	C3L-01632_NB	G	G																c.40C>A	p.=	p.R14R	ENST00000359963	1/1	102	75	27	151	151	0	strelka-varscan-mutect	CCT8L2,synonymous_variant,p.=,ENST00000359963,NM_014406.4;FABP5P11,downstream_gene_variant,,ENST00000430910,;	T	ENST00000359963	Transcript	synonymous_variant	300/2060	40/1674	14/557	R	Cgg/Agg	rs553618420,COSM3673210	1		-1	CCT8L2	HGNC	HGNC:15553	protein_coding	YES	CCDS13738.1	ENSP00000353048	Q96SF2		UPI000006CF87	NM_014406.4			1/1		hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF100											0,1						LOW	1	SNV			0,1	1										PASS		rs553618420	.												T	2	4	24	16592511	16592511	G	T	1	0	0	0	0	0	0	0	1	2662	1086	38	1		1	CCT8L2	22	16592511	Silent	SNP	G	C3L-01632_TP		16592511	34225957	189	7782											
MICAL3	0	.	GRCh38	chr22	17841929	17841929	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagcctgcctcagggaCaggcggtagttctccagctc	6	8	12	15	1	3	0	2	0	1	0	5	1	3	1	4	3	3	3	4	3	1	2	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.2694G>T	p.=	p.L898L	ENST00000441493	20/32	206	170	36	296	296	0	strelka-varscan-mutect	MICAL3,synonymous_variant,p.=,ENST00000441493,NM_015241.2;MICAL3,synonymous_variant,p.=,ENST00000414725,;MICAL3,synonymous_variant,p.=,ENST00000400561,NM_001122731.2;MICAL3,synonymous_variant,p.=,ENST00000383094,;MICAL3,3_prime_UTR_variant,,ENST00000495076,;MICAL3,non_coding_transcript_exon_variant,,ENST00000578905,;	A	ENST00000441493	Transcript	synonymous_variant	3047/9445	2694/6009	898/2002	L	ctG/ctT		1		-1	MICAL3	HGNC	HGNC:24694	protein_coding	YES	CCDS46659.1	ENSP00000416015	Q7RTP6		UPI0001823FDE	NM_015241.2			20/32																			LOW	1	SNV	5			1										PASS		rs1325327112	.												A	2	1	24	17841929	17841929	C	A	1	0	0	0	0	0	0	0	1	9528	465	17	2		2	MICAL3	22	17841929	Silent	SNP	C	C3L-01632_TP	1249418	17841929	32976539	190	7783											
BCR	0	.	GRCh38	chr22	23181185	23181185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctatgaccggcagcgatgGggcttccggcgcgcggcgca	6	5	17	13	7	0	1	0	1	0	0	1	2	1	1	2	5	2	4	2	5	1	2	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.225G>T	p.Trp75Cys	p.W75C	ENST00000305877	1/23	55	45	10	81	81	0	strelka-varscan-mutect	BCR,missense_variant,p.Trp75Cys,ENST00000305877,NM_004327.3;BCR,missense_variant,p.Trp75Cys,ENST00000398512,;BCR,missense_variant,p.Trp75Cys,ENST00000359540,NM_021574.2;BCR,intron_variant,,ENST00000479188,;BCRP8,upstream_gene_variant,,ENST00000412037,;	T	ENST00000305877	Transcript	missense_variant	976/7082	225/3816	75/1271	W/C	tgG/tgT		1		1	BCR	HGNC	HGNC:1014	protein_coding	YES	CCDS13806.1	ENSP00000303507	P11274		UPI000016A088	NM_004327.3	deleterious_low_confidence(0)		1/23		hmmpanther:PTHR23182,hmmpanther:PTHR23182:SF3,Pfam_domain:PF09036																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	24	23181185	23181185	G	T	1	0	0	0	0	1	0	0	0	1535	1241	43	2		2	BCR	22	23181185	Missense_Mutation	SNP	G	C3L-01632_TP	5339256	23181185	27637283	191	7784											
GAS2L1	0	.	GRCh38	chr22	29308405	29308405	+	Frame_Shift_Del	DEL	C	C	-																															cctggctccttcatggcgcgCgacaacgtggccaccttcat																								novel		C3L-01632_TP	C3L-01632_NB	C	C																c.300delC	p.Asp101ThrfsTer100	p.D101Tfs*100	ENST00000618518	1/5	66	51	15	171	171	0	sindel-varindel	GAS2L1,frameshift_variant,p.Asp101ThrfsTer100,ENST00000618518,;GAS2L1,frameshift_variant,p.Asp101ThrfsTer100,ENST00000616432,;GAS2L1,frameshift_variant,p.Asp101ThrfsTer100,ENST00000621062,NM_006478.4;GAS2L1,frameshift_variant,p.Asp101ThrfsTer100,ENST00000611648,NM_152236.2;GAS2L1,frameshift_variant,p.Asp101ThrfsTer100,ENST00000610653,;GAS2L1,frameshift_variant,p.Asp101ThrfsTer100,ENST00000406549,NM_001278730.1;GAS2L1,frameshift_variant,p.Asp101ThrfsTer?,ENST00000416823,;GAS2L1,frameshift_variant,p.Asp101ThrfsTer?,ENST00000428622,;RASL10A,downstream_gene_variant,,ENST00000401450,;RASL10A,downstream_gene_variant,,ENST00000216101,NM_006477.4;GAS2L1,upstream_gene_variant,,ENST00000491016,;GAS2L1,downstream_gene_variant,,ENST00000487341,;	-	ENST00000618518	Transcript	frameshift_variant	1348/3382	300/2046	100/681	R/X	cgC/cg		1		1	GAS2L1	HGNC	HGNC:16955	protein_coding	YES	CCDS74840.1	ENSP00000481012		A0A5E8	UPI0000073BD7				1/5		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF296,SMART_domains:SM00033,Superfamily_domains:SSF47576																	HIGH		deletion	2			1										PASS		.	.												-	7	5	24	29308405	29308405	C	-	1	0	1	0	1	0	0	0	0	6116	755	27	0		0	GAS2L1	22	29308405	Frame_Shift_Del	DEL	C	C3L-01632_TP	6127220	29308405	21510063	192	7785	177	2									
GAS2L1	0	.	GRCh38	chr22	29308406	29308406	+	Missense_Mutation	SNP	G	G	T																															ctggctccttcatggcgcgcGacaacgtggccaccttcatc																								novel		C3L-01632_TP	C3L-01632_NB	G	G																c.301G>T	p.Asp101Tyr	p.D101Y	ENST00000618518	1/5	82	65	17	177	177	0	strelka-mutect	GAS2L1,missense_variant,p.Asp101Tyr,ENST00000618518,;GAS2L1,missense_variant,p.Asp101Tyr,ENST00000616432,;GAS2L1,missense_variant,p.Asp101Tyr,ENST00000621062,NM_006478.4;GAS2L1,missense_variant,p.Asp101Tyr,ENST00000611648,NM_152236.2;GAS2L1,missense_variant,p.Asp101Tyr,ENST00000610653,;GAS2L1,missense_variant,p.Asp101Tyr,ENST00000406549,NM_001278730.1;GAS2L1,missense_variant,p.Asp101Tyr,ENST00000416823,;GAS2L1,missense_variant,p.Asp101Tyr,ENST00000428622,;RASL10A,downstream_gene_variant,,ENST00000401450,;RASL10A,downstream_gene_variant,,ENST00000216101,NM_006477.4;GAS2L1,upstream_gene_variant,,ENST00000491016,;GAS2L1,downstream_gene_variant,,ENST00000487341,;	T	ENST00000618518	Transcript	missense_variant	1349/3382	301/2046	101/681	D/Y	Gac/Tac		1		1	GAS2L1	HGNC	HGNC:16955	protein_coding	YES	CCDS74840.1	ENSP00000481012		A0A5E8	UPI0000073BD7		deleterious(0)		1/5		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF296,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	24	29308406	29308406	G	T	1	0	0	0	0	1	0	0	0	6116	1058	37	1		1	GAS2L1	22	29308406	Missense_Mutation	SNP	G	C3L-01632_TP	1	29308406	21510062	193	7786	177	2									
FAM9C	0	.	GRCh38	chrX	13039807	13039807	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagctaagcctgataccaaCaatttgttcttccttttctc	11	15	4	11	0	2	1	0	1	2	0	4	1	3	1	3	0	4	2	3	0	5	7	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.438+1G>T		p.X146_splice	ENST00000333995		72	64	8	103	103	0	strelka-varscan-mutect	FAM9C,splice_donor_variant,,ENST00000542843,;FAM9C,splice_donor_variant,,ENST00000333995,;FAM9C,splice_donor_variant,,ENST00000380625,NM_174901.5;FAM9C,splice_donor_variant,,ENST00000438997,;FAM9C,splice_donor_variant,,ENST00000468287,;	A	ENST00000333995	Transcript	splice_donor_variant	-/3361	438/501	146/166				1		-1	FAM9C	HGNC	HGNC:18405	protein_coding	YES	CCDS35203.1	ENSP00000334430	Q8IZT9	A0A024RBW5	UPI000012A41A					6/6																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	24	13039807	13039807	C	A	1	0	0	0	0	0	0	1	0	5519	492	17	2		2	FAM9C	23	13039807	Splice_Site	SNP	C	C3L-01632_TP		13039807	143001088	194	7787											
SCML2	0	.	GRCh38	chrX	18256893	18256893	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgtgagtatgaccccTggaagaactaaaaggctggc	13	7	13	8	0	0	4	0	2	0	2	0	5	0	5	2	3	2	3	2	3	5	2	novel		C3L-01632_TP	C3L-01632_NB	T	T																c.1411A>T	p.Arg471Trp	p.R471W	ENST00000251900	11/15	103	80	23	160	160	0	strelka-varscan-mutect	SCML2,missense_variant,p.Arg471Trp,ENST00000251900,NM_006089.2;	A	ENST00000251900	Transcript	missense_variant	1571/4200	1411/2103	471/700	R/W	Agg/Tgg		1		-1	SCML2	HGNC	HGNC:10581	protein_coding	YES	CCDS14185.1	ENSP00000251900	Q9UQR0		UPI0000071E54	NM_006089.2	tolerated(0.09)		11/15		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF84																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	18256893	18256893	T	A	1	0	0	0	0	1	0	0	0	14179	1579	55	4		4	SCML2	23	18256893	Missense_Mutation	SNP	T	C3L-01632_TP	5217086	18256893	137784002	195	7788											
PPEF1	0	.	GRCh38	chrX	18789244	18789244	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacaaatggatctcctactGaacacttaacagagcatgaa	18	8	6	9	0	1	3	0	2	1	1	2	4	1	4	1	1	5	1	1	1	6	2	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1036G>C	p.Glu346Gln	p.E346Q	ENST00000361511	13/19	152	120	32	188	188	0	strelka-varscan-mutect	PPEF1,missense_variant,p.Glu346Gln,ENST00000361511,NM_006240.2,NM_152224.1;PPEF1,missense_variant,p.Glu346Gln,ENST00000349874,NM_152226.1;PPEF1,downstream_gene_variant,,ENST00000496075,;PPEF1,non_coding_transcript_exon_variant,,ENST00000379962,;	C	ENST00000361511	Transcript	missense_variant	1530/2890	1036/1962	346/653	E/Q	Gaa/Caa		1		1	PPEF1	HGNC	HGNC:9243	protein_coding	YES	CCDS14188.1	ENSP00000354871	O14829	A0A024RBZ9	UPI0000001C4F	NM_006240.2,NM_152224.1	tolerated(0.17)		13/19		Pfam_domain:PF00149,PIRSF_domain:PIRSF000912,SMART_domains:SM00156,Prints_domain:PR00114																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	24	18789244	18789244	G	C	1	0	0	0	0	1	0	0	0	12416	1291	45	4		4	PPEF1	23	18789244	Missense_Mutation	SNP	G	C3L-01632_TP	532351	18789244	137251651	196	7789											
HDAC6	0	.	GRCh38	chrX	48808138	48808138	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaaacaccgcatccggagGtcagcaacagagggcagatg	14	3	13	11	2	1	3	1	0	0	3	2	4	2	4	2	3	3	3	2	3	2	0	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.737+1G>T		p.X246_splice	ENST00000334136		186	162	24	364	363	1	strelka-varscan-mutect	HDAC6,splice_donor_variant,,ENST00000334136,NM_001321227.1,NM_001321229.1;HDAC6,splice_donor_variant,,ENST00000376619,NM_001321225.1,NM_001321228.1,NM_006044.2;HDAC6,splice_donor_variant,,ENST00000426196,;HDAC6,downstream_gene_variant,,ENST00000376643,;HDAC6,downstream_gene_variant,,ENST00000376610,;HDAC6,downstream_gene_variant,,ENST00000440653,;HDAC6,downstream_gene_variant,,ENST00000441703,;HDAC6,downstream_gene_variant,,ENST00000423941,;HDAC6,downstream_gene_variant,,ENST00000443563,;HDAC6,splice_donor_variant,,ENST00000477561,;HDAC6,downstream_gene_variant,,ENST00000469223,;HDAC6,downstream_gene_variant,,ENST00000483656,;HDAC6,splice_donor_variant,,ENST00000477528,;HDAC6,downstream_gene_variant,,ENST00000462730,;HDAC6,downstream_gene_variant,,ENST00000465269,;HDAC6,downstream_gene_variant,,ENST00000476625,;HDAC6,downstream_gene_variant,,ENST00000481929,;HDAC6,downstream_gene_variant,,ENST00000489352,;HDAC6,downstream_gene_variant,,ENST00000468949,;HDAC6,downstream_gene_variant,,ENST00000493923,;HDAC6,downstream_gene_variant,,ENST00000461608,;	T	ENST00000334136	Transcript	splice_donor_variant	-/4190	737/3648	246/1215				1		1	HDAC6	HGNC	HGNC:14064	protein_coding	YES	CCDS14306.1	ENSP00000334061	Q9UBN7	A0A024QZ26	UPI0000073E04	NM_001321227.1,NM_001321229.1				9/28																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	24	48808138	48808138	G	T	1	0	0	0	0	0	0	1	0	6898	1275	44	2		2	HDAC6	23	48808138	Splice_Site	SNP	G	C3L-01632_TP	30018894	48808138	107232757	197	7790											
WNK3	0	.	GRCh38	chrX	54250110	54250110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcgccaccgaccaactgggGatgactgaggagcagattca	12	6	12	11	2	1	3	1	2	0	1	2	6	1	5	3	3	2	1	3	3	1	1	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.2597C>A	p.Ser866Tyr	p.S866Y	ENST00000354646	16/24	178	145	33	237	236	1	strelka-varscan-mutect	WNK3,missense_variant,p.Ser866Tyr,ENST00000354646,NM_020922.4;WNK3,missense_variant,p.Ser866Tyr,ENST00000375169,NM_001002838.3;WNK3,missense_variant,p.Ser866Tyr,ENST00000375159,;WNK3,missense_variant,p.Ser866Tyr,ENST00000620763,;	T	ENST00000354646	Transcript	missense_variant	3036/11341	2597/5403	866/1800	S/Y	tCc/tAc		1		-1	WNK3	HGNC	HGNC:14543	protein_coding	YES	CCDS14357.1	ENSP00000346667	Q9BYP7		UPI00001AF003	NM_020922.4	deleterious(0)		16/24		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF47																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	24	54250110	54250110	G	T	1	0	0	0	0	1	0	0	0	17935	1174	41	2		2	WNK3	23	54250110	Missense_Mutation	SNP	G	C3L-01632_TP	5441972	54250110	101790785	198	7791											
RRAGB	0	.	GRCh38	chrX	55722258	55722258	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcaaattatattgccAgagacacacgtcgccttggc	10	12	8	11	2	1	1	0	0	1	1	2	2	1	1	2	1	2	1	2	1	3	5	novel		C3L-01632_TP	C3L-01632_NB	A	A																c.199A>T	p.Arg67Ter	p.R67*	ENST00000262850	3/11	85	75	10	115	114	1	strelka-varscan-mutect	RRAGB,stop_gained,p.Arg67Ter,ENST00000374941,NM_006064.4;RRAGB,stop_gained,p.Arg67Ter,ENST00000262850,NM_016656.3;RRAGB,stop_gained,p.Arg29Ter,ENST00000414239,;RRAGB,non_coding_transcript_exon_variant,,ENST00000498762,;	T	ENST00000262850	Transcript	stop_gained	642/1573	199/1125	67/374	R/*	Aga/Tga		1		1	RRAGB	HGNC	HGNC:19901	protein_coding	YES	CCDS14372.1	ENSP00000262850	Q5VZM2		UPI00001AE856	NM_016656.3			3/11		Gene3D:3.40.50.300,Pfam_domain:PF04670,hmmpanther:PTHR11259,hmmpanther:PTHR11259:SF4,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	24	55722258	55722258	A	T	1	0	0	0	0	0	1	0	0	13927	180	7	4		4	RRAGB	23	55722258	Nonsense_Mutation	SNP	A	C3L-01632_TP	1472148	55722258	100318637	199	7792											
TAF1	0	.	GRCh38	chrX	71394066	71394066	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgctttttctctttttaGggttctgtcatcaactgaag	7	19	7	8	0	4	1	2	1	2	0	5	1	4	1	0	1	2	2	0	1	3	7	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.3288-1G>T		p.X1096_splice	ENST00000423759		71	67	4	149	149	0	varscan-mutect	TAF1,splice_acceptor_variant,,ENST00000423759,NM_001286074.1;TAF1,splice_acceptor_variant,,ENST00000373790,NM_138923.3;TAF1,splice_acceptor_variant,,ENST00000276072,NM_004606.4;TAF1,upstream_gene_variant,,ENST00000483985,;TAF1,downstream_gene_variant,,ENST00000478305,;TAF1,downstream_gene_variant,,ENST00000474917,;	T	ENST00000423759	Transcript	splice_acceptor_variant	-/7722	3288/5688	1096/1895				1		1	TAF1	HGNC	HGNC:11535	protein_coding	YES	CCDS69783.1	ENSP00000406549	P21675		UPI000171708A	NM_001286074.1				21/38																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	24	71394066	71394066	G	T	1	0	0	0	0	0	0	1	0	15909	1014	35	2		2	TAF1	23	71394066	Splice_Site	SNP	G	C3L-01632_TP	15671808	71394066	84646829	200	7793											
CHIC1	0	.	GRCh38	chrX	73563530	73563530	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgagcgaggagcatctgcgGagatatgctcccgaccctgt	8	8	14	11	3	1	2	0	1	1	1	2	6	2	3	2	2	4	2	2	2	1	1	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.246G>C	p.=	p.R82R	ENST00000373502	1/6	29	25	4	49	49	0	strelka-varscan-mutect	CHIC1,synonymous_variant,p.=,ENST00000373504,NM_001300884.1;CHIC1,synonymous_variant,p.=,ENST00000373502,NM_001039840.2;MAP2K4P1,upstream_gene_variant,,ENST00000602584,;CHIC1,synonymous_variant,p.=,ENST00000498318,;CHIC1,synonymous_variant,p.=,ENST00000498407,;	C	ENST00000373502	Transcript	synonymous_variant	323/4158	246/675	82/224	R	cgG/cgC		1		1	CHIC1	HGNC	HGNC:1934	protein_coding	YES	CCDS35335.2	ENSP00000362601	Q5VXU3		UPI0000160F74	NM_001039840.2			1/6		hmmpanther:PTHR13005,hmmpanther:PTHR13005:SF2																	LOW	1	SNV	1			1										PASS		rs1171093632	.												C	2	2	24	73563530	73563530	G	C	1	0	0	0	0	0	0	0	1	3102	1161	41	4		4	CHIC1	23	73563530	Silent	SNP	G	C3L-01632_TP	2169464	73563530	82477365	201	7794											
DRP2	0	.	GRCh38	chrX	101256169	101256169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccatcacagaccgggaGccagcctttggacagcaggc	10	4	12	15	1	1	1	1	0	0	1	1	3	1	3	5	3	4	1	5	3	0	1	rs775130803		C3L-01632_TP	C3L-01632_NB	G	G																c.2298G>T	p.Glu766Asp	p.E766D	ENST00000395209	21/24	96	75	21	119	119	0	strelka-varscan-mutect	DRP2,missense_variant,p.Glu766Asp,ENST00000395209,NM_001939.2;DRP2,missense_variant,p.Glu766Asp,ENST00000402866,;DRP2,missense_variant,p.Glu766Asp,ENST00000538510,;DRP2,missense_variant,p.Glu688Asp,ENST00000541709,NM_001171184.1;DRP2,downstream_gene_variant,,ENST00000372916,;	T	ENST00000395209	Transcript	missense_variant	2825/7277	2298/2874	766/957	E/D	gaG/gaT	rs775130803	1		1	DRP2	HGNC	HGNC:3032	protein_coding	YES	CCDS14480.2	ENSP00000378635	Q13474	A0A024RCH3	UPI000013D388	NM_001939.2	tolerated(0.39)		21/24		hmmpanther:PTHR11915,PIRSF_domain:PIRSF038205																	MODERATE	1	SNV	1			1										PASS		rs775130803	.												T	3	4	24	101256169	101256169	G	T	1	0	0	0	0	1	0	0	0	4585	962	34	2		2	DRP2	23	101256169	Missense_Mutation	SNP	G	C3L-01632_TP	27692639	101256169	54784726	202	7795											
MORC4	0	.	GRCh38	chrX	106958380	106958380	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taacaaaaccatcttgcaggTaacatggatggatcaatctt	15	11	7	8	0	3	0	1	0	2	0	3	2	3	2	1	3	4	2	1	3	5	4	novel		C3L-01632_TP	C3L-01632_NB	T	T																c.1341A>T	p.Leu447Phe	p.L447F	ENST00000355610	11/17	125	110	15	205	205	0	strelka-varscan-mutect	MORC4,missense_variant,p.Leu447Phe,ENST00000355610,NM_024657.4;MORC4,missense_variant,p.Leu447Phe,ENST00000255495,NM_001085354.2;MORC4,intron_variant,,ENST00000604604,;	A	ENST00000355610	Transcript	missense_variant	1616/3834	1341/2814	447/937	L/F	ttA/ttT		1		-1	MORC4	HGNC	HGNC:23485	protein_coding	YES	CCDS14525.2	ENSP00000347821	Q8TE76		UPI00003E75D3	NM_024657.4	tolerated(0.06)		11/17		PROSITE_profiles:PS51050,hmmpanther:PTHR23336,hmmpanther:PTHR23336:SF22,Pfam_domain:PF07496																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	24	106958380	106958380	T	A	1	0	0	0	0	1	0	0	0	9668	1635	57	4		4	MORC4	23	106958380	Missense_Mutation	SNP	T	C3L-01632_TP	5702211	106958380	49082515	203	7796											
PRPS1	0	.	GRCh38	chrX	107639422	107639422	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagattgcttcagccagcCgggttactgcagtcatccca	9	9	10	13	1	2	1	2	0	0	1	3	1	3	1	3	1	5	4	3	1	2	3	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.250C>A	p.=	p.R84R	ENST00000372435	2/7	379	310	69	595	594	1	strelka-varscan-mutect	PRPS1,synonymous_variant,p.=,ENST00000372435,NM_002764.3;PRPS1,synonymous_variant,p.=,ENST00000372418,;PRPS1,synonymous_variant,p.=,ENST00000372419,;PRPS1,intron_variant,,ENST00000372428,NM_001204402.1;	A	ENST00000372435	Transcript	synonymous_variant	372/2073	250/957	84/318	R	Cgg/Agg		1		1	PRPS1	HGNC	HGNC:9462	protein_coding	YES	CCDS14529.1	ENSP00000361512	P60891		UPI00000000A5	NM_002764.3			2/7		Gene3D:3.40.50.2020,HAMAP:MF_00583_B,Pfam_domain:PF13793,hmmpanther:PTHR10210,hmmpanther:PTHR10210:SF60,SMART_domains:SM01400,Superfamily_domains:SSF53271,TIGRFAM_domain:TIGR01251																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	24	107639422	107639422	C	A	1	0	0	0	0	0	0	0	1	12714	643	23	1		1	PRPS1	23	107639422	Silent	SNP	C	C3L-01632_TP	681042	107639422	48401473	204	7797											
IGSF1	0	.	GRCh38	chrX	131283228	131283228	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaggtgccatgatgggcCcaggatgggctgtcaaagtt	8	9	14	10	0	1	1	1	1	0	0	2	2	2	2	3	4	1	2	3	4	1	1	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.704G>T	p.Gly235Val	p.G235V	ENST00000370903	6/20	98	85	13	187	187	0	strelka-varscan-mutect	IGSF1,missense_variant,p.Gly226Val,ENST00000370904,;IGSF1,missense_variant,p.Gly235Val,ENST00000370903,NM_001170961.1;IGSF1,missense_variant,p.Gly226Val,ENST00000370910,NM_001170962.1;IGSF1,missense_variant,p.Gly235Val,ENST00000361420,NM_001555.4;IGSF1,downstream_gene_variant,,ENST00000370901,NM_205833.3;IGSF1,downstream_gene_variant,,ENST00000370900,NM_001170963.1;IGSF1,upstream_gene_variant,,ENST00000469836,;	A	ENST00000370903	Transcript	missense_variant	987/4594	704/4026	235/1341	G/V	gGg/gTg		1		-1	IGSF1	HGNC	HGNC:5948	protein_coding	YES	CCDS55491.1	ENSP00000359940	Q8N6C5		UPI0000E0C769	NM_001170961.1	deleterious(0.01)		6/20		Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	131283228	131283228	C	A	1	0	0	0	0	1	0	0	0	7503	623	22	2		2	IGSF1	23	131283228	Missense_Mutation	SNP	C	C3L-01632_TP	23643806	131283228	24757667	205	7798											
PHF6	0	.	GRCh38	chrX	134393910	134393910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttcttcattttttataggGtctattgccgaaaacacaag	12	16	6	7	1	3	0	1	0	2	0	3	1	3	0	1	1	2	0	1	1	6	8	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.376G>A	p.Val126Ile	p.V126I	ENST00000332070	5/10	220	195	25	366	364	2	strelka-varscan-mutect	PHF6,missense_variant,p.Val126Ile,ENST00000332070,NM_032458.2,NM_001015877.1;PHF6,missense_variant,p.Val126Ile,ENST00000370803,;PHF6,missense_variant,p.Val126Ile,ENST00000625464,;PHF6,missense_variant,p.Val126Ile,ENST00000370799,;PHF6,missense_variant,p.Val126Ile,ENST00000370800,NM_032335.3;	A	ENST00000332070	Transcript	missense_variant,splice_region_variant	578/4759	376/1098	126/365	V/I	Gtc/Atc		1		1	PHF6	HGNC	HGNC:18145	protein_coding	YES	CCDS14639.1	ENSP00000329097	Q8IWS0		UPI0000074487	NM_032458.2,NM_001015877.1	tolerated(0.77)		5/10		hmmpanther:PTHR12420:SF15,hmmpanther:PTHR12420,Pfam_domain:PF13771,Gene3D:3.30.40.10,SMART_domains:SM00249																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	134393910	134393910	G	A	1	0	0	0	0	1	0	0	0	11925	1275	44	3		3	PHF6	23	134393910	Missense_Mutation	SNP	G	C3L-01632_TP	3110682	134393910	21646985	206	7799											
SMIM10	0	.	GRCh38	chrX	134991203	134991203	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgcccgcaggggacccgCggctcttacggcgccttctg	3	7	14	17	7	2	0	0	0	2	0	3	1	2	1	3	4	1	2	3	4	1	2	novel		C3L-01632_TP	C3L-01632_NB	C	C																c.108C>T	p.=	p.R36R	ENST00000330288	1/1	182	145	37	278	277	1	strelka-varscan-mutect	SMIM10,synonymous_variant,p.=,ENST00000330288,NM_001163438.1;	T	ENST00000330288	Transcript	synonymous_variant	266/1536	108/252	36/83	R	cgC/cgT		1		1	SMIM10	HGNC	HGNC:41913	protein_coding	YES	CCDS55502.1	ENSP00000328335	Q96HG1,P0DMW3		UPI00003FCD5A	NM_001163438.1			1/1		Pfam_domain:PF15118,hmmpanther:PTHR34446,hmmpanther:PTHR34446:SF4																	LOW	1	SNV				1										PASS		.	.												T	2	4	24	134991203	134991203	C	T	1	0	0	0	0	0	0	0	1	15096	755	27	1		1	SMIM10	23	134991203	Silent	SNP	C	C3L-01632_TP	597293	134991203	21049692	207	7800											
MCF2	0	.	GRCh38	chrX	139617522	139617522	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattacactacctgctgtagGagtttatgcattttgaaggt	10	15	9	7	0	0	1	0	1	0	0	0	2	0	2	1	2	4	4	1	2	5	7	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.1170C>A	p.=	p.L390L	ENST00000519895	11/29	46	38	8	97	97	0	strelka-varscan-mutect	MCF2,synonymous_variant,p.=,ENST00000520602,;MCF2,synonymous_variant,p.=,ENST00000414978,NM_001099855.1;MCF2,synonymous_variant,p.=,ENST00000370576,NM_005369.4;MCF2,synonymous_variant,p.=,ENST00000536274,NM_001171877.1;MCF2,synonymous_variant,p.=,ENST00000519895,NM_001171876.1;MCF2,synonymous_variant,p.=,ENST00000338585,NM_001171879.1;MCF2,synonymous_variant,p.=,ENST00000370573,NM_001171878.1;MCF2,upstream_gene_variant,,ENST00000446225,;MCF2,upstream_gene_variant,,ENST00000483690,;	T	ENST00000519895	Transcript	synonymous_variant	1336/3346	1170/3006	390/1001	L	ctC/ctA		1		-1	MCF2	HGNC	HGNC:6940	protein_coding	YES	CCDS55517.1	ENSP00000430276	P10911		UPI0001C33995	NM_001171876.1			11/29		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF138																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	24	139617522	139617522	G	T	1	0	0	0	0	0	0	0	1	9309	1161	41	2		2	MCF2	23	139617522	Silent	SNP	G	C3L-01632_TP	4626319	139617522	16423373	208	7801											
SLITRK2	0	.	GRCh38	chrX	145822540	145822540	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgtctgtgcgaagaaaagGaaaacgtactgaatatcaac	16	8	10	7	2	2	2	1	1	1	1	2	4	2	3	0	1	4	2	0	1	9	2	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.115G>T	p.Glu39Ter	p.E39*	ENST00000370490	1/1	232	193	39	373	372	1	strelka-varscan-mutect	SLITRK2,stop_gained,p.Glu39Ter,ENST00000370490,NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2;SLITRK2,stop_gained,p.Glu39Ter,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,NM_004709.2;	T	ENST00000370490	Transcript	stop_gained	4370/7672	115/2538	39/845	E/*	Gaa/Taa		1		1	SLITRK2	HGNC	HGNC:13449	protein_coding	YES	CCDS14680.1	ENSP00000359521	Q9H156		UPI000004E64B	NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2			1/1		Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF36,SMART_domains:SM00013,Superfamily_domains:SSF52058																	HIGH	1	SNV				1										PASS		.	.												T	4	4	24	145822540	145822540	G	T	1	0	0	0	0	0	1	0	0	15034	1175	41	2		2	SLITRK2	23	145822540	Nonsense_Mutation	SNP	G	C3L-01632_TP	6205018	145822540	10218355	209	7802											
AFF2	0	.	GRCh38	chrX	148980782	148980783	+	Frame_Shift_Ins	INS	-	-	A																															taccctctccatgggtaagcINSaatggaaagtaagtattttc																								novel		C3L-01632_TP	C3L-01632_NB	-	-																c.3617dupA	p.Asn1206LysfsTer24	p.N1206Kfs*24	ENST00000370460	19/21	90	77	13	144	144	0	sindel-varindel-pindel	AFF2,frameshift_variant,p.Asn1206LysfsTer24,ENST00000370460,NM_001169123.1,NM_002025.3;AFF2,frameshift_variant,p.Asn847LysfsTer24,ENST00000286437,NM_001170628.1;AFF2,frameshift_variant,p.Asn1171LysfsTer24,ENST00000342251,NM_001169122.1;AFF2,frameshift_variant,p.Asn1171LysfsTer24,ENST00000370457,NM_001169124.1,NM_001169125.1;	A	ENST00000370460	Transcript	frameshift_variant	4094-4095/13746	3615-3616/3936	1205-1206/1311	-/X	-/A		1		1	AFF2	HGNC	HGNC:3776	protein_coding	YES	CCDS14684.1	ENSP00000359489	P51816		UPI000049E130	NM_001169123.1,NM_002025.3			19/21		hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF18,Pfam_domain:PF05110																	HIGH	1	insertion	5	2		1										PASS		.	.												A	7	5	24	148980782	148980782	-	A	1	0	1	1	0	0	0	0	0	434	709	25	0		0	AFF2	23	148980782	Frame_Shift_Ins	INS	-	C3L-01632_TP	3158242	148980782	7060113	210	7803											
FLNA	0	.	GRCh38	chrX	154361412	154361412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atagggcccttcctcacgggGcaggaagcgcaccacactgt	9	6	12	14	2	1	0	1	0	0	0	2	1	2	1	3	4	1	2	3	4	2	2	novel		C3L-01632_TP	C3L-01632_NB	G	G																c.3103C>T	p.Pro1035Ser	p.P1035S	ENST00000369850	21/48	360	340	20	563	561	2	strelka-varscan	FLNA,missense_variant,p.Pro1035Ser,ENST00000422373,NM_001456.3;FLNA,missense_variant,p.Pro1035Ser,ENST00000369850,NM_001110556.1;FLNA,missense_variant,p.Pro1035Ser,ENST00000360319,;FLNA,missense_variant,p.Pro1008Ser,ENST00000369856,;FLNA,missense_variant,p.Pro1035Ser,ENST00000344736,;FLNA,missense_variant,p.Pro1008Ser,ENST00000610817,;FLNA,upstream_gene_variant,,ENST00000466319,;FLNA,3_prime_UTR_variant,,ENST00000420627,;FLNA,upstream_gene_variant,,ENST00000490936,;FLNA,downstream_gene_variant,,ENST00000465144,;	A	ENST00000369850	Transcript	missense_variant	3340/8382	3103/7944	1035/2647	P/S	Ccc/Tcc		1		-1	FLNA	HGNC	HGNC:3754	protein_coding	YES	CCDS48194.1	ENSP00000358866	P21333		UPI000013C596	NM_001110556.1	deleterious(0)		21/48		PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF173,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	24	154361412	154361412	G	A	1	0	0	0	0	1	0	0	0	5789	1203	42	3		3	FLNA	23	154361412	Missense_Mutation	SNP	G	C3L-01632_TP	5380630	154361412	1679483	211	7804											
PLK3	0	.	GRCh38	chr1	44800643	44800643	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggacccgcgcagcggccgCacctacctcaaaggccgctt	8	4	11	18	6	1	0	1	0	0	0	1	1	1	1	5	3	2	3	5	3	2	2	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.180C>A	p.=	p.R60R	ENST00000372201	1/15	221	196	25	215	215	0	strelka-varscan-mutect	PLK3,synonymous_variant,p.=,ENST00000372201,NM_004073.2;PLK3,non_coding_transcript_exon_variant,,ENST00000465443,;PLK3,upstream_gene_variant,,ENST00000492398,;PLK3,upstream_gene_variant,,ENST00000493100,;PLK3,upstream_gene_variant,,ENST00000461358,;PLK3,upstream_gene_variant,,ENST00000476731,;PLK3,upstream_gene_variant,,ENST00000461769,;	A	ENST00000372201	Transcript	synonymous_variant	419/2492	180/1941	60/646	R	cgC/cgA		1		1	PLK3	HGNC	HGNC:2154	protein_coding	YES	CCDS515.1	ENSP00000361275	Q9H4B4		UPI000013ED1D	NM_004073.2			1/15		hmmpanther:PTHR24345,hmmpanther:PTHR24345:SF42,Gene3D:3.30.200.20																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	25	44800643	44800643	C	A	1	0	0	0	0	0	0	0	1	12192	697	25	2		2	PLK3	1	44800643	Silent	SNP	C	C3L-01682_TP		44800643	204155779	1	7805											
PLPPR4	0	.	GRCh38	chr1	99306995	99306995	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaggaacctcccccacacgGgcttataaggattgagtgat	13	8	10	10	1	0	2	0	2	0	0	1	4	1	4	3	3	1	1	3	3	4	3	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.2277G>T	p.=	p.R759R	ENST00000370185	7/7	75	65	10	82	81	1	strelka-varscan-mutect	PLPPR4,synonymous_variant,p.=,ENST00000370185,NM_014839.4;PLPPR4,synonymous_variant,p.=,ENST00000457765,NM_001166252.1;PLPPR4,synonymous_variant,p.=,ENST00000370184,;	T	ENST00000370185	Transcript	synonymous_variant	2774/5369	2277/2292	759/763	R	cgG/cgT		1		1	PLPPR4	HGNC	HGNC:23496	protein_coding	YES	CCDS757.1	ENSP00000359204	Q7Z2D5		UPI0000161229	NM_014839.4			7/7																			LOW	1	SNV	1			1										PASS		rs1320737744	.												T	2	4	25	99306995	99306995	G	T	1	0	0	0	0	0	0	0	1	12212	1219	43	2		2	PLPPR4	1	99306995	Silent	SNP	G	C3L-01682_TP	54506352	99306995	149649427	2	7806											
SLC6A17	0	.	GRCh38	chr1	110198394	110198394	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggtaaccccaatggaCgctatgggagcggctacctg	9	6	13	13	3	0	0	0	0	0	0	0	2	0	2	4	4	4	3	4	4	4	3	rs142470334		C3L-01682_TP	C3L-01682_NB	C	C																c.2134C>A	p.Arg712Ser	p.R712S	ENST00000331565	12/12	172	150	22	151	151	0	varscan-mutect	SLC6A17,missense_variant,p.Arg712Ser,ENST00000331565,NM_001010898.2;SLC6A17,downstream_gene_variant,,ENST00000465159,;	A	ENST00000331565	Transcript	missense_variant	2619/6427	2134/2184	712/727	R/S	Cgc/Agc	rs142470334	1		1	SLC6A17	HGNC	HGNC:31399	protein_coding	YES	CCDS30799.1	ENSP00000330199	Q9H1V8		UPI0000470B3D	NM_001010898.2	tolerated_low_confidence(0.13)		12/12		hmmpanther:PTHR11616:SF102,hmmpanther:PTHR11616																	MODERATE	1	SNV	2			1										PASS		rs142470334	.												A	3	1	25	110198394	110198394	C	A	1	0	0	0	0	1	0	0	0	14963	536	19	1		1	SLC6A17	1	110198394	Missense_Mutation	SNP	C	C3L-01682_TP	10891399	110198394	138758028	3	7807											
RNF115	0	.	GRCh38	chr1	145823773	145823773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaacacagcgctcttaccGgtagtttggggctgacctcg	8	9	13	11	3	1	2	0	1	1	1	2	3	1	2	2	3	3	4	2	3	3	3	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.101C>T	p.Pro34Leu	p.P34L	ENST00000582693	1/9	122	105	17	109	109	0	strelka-varscan-mutect	RNF115,missense_variant,p.Pro34Leu,ENST00000582693,NM_014455.3;POLR3C,upstream_gene_variant,,ENST00000334163,NM_006468.7,NM_001303456.1;POLR3C,upstream_gene_variant,,ENST00000369294,;POLR3C,upstream_gene_variant,,ENST00000471254,;POLR3C,upstream_gene_variant,,ENST00000466003,;	A	ENST00000582693	Transcript	missense_variant,splice_region_variant	305/9117	101/915	34/304	P/L	cCg/cTg		1		-1	RNF115	HGNC	HGNC:18154	protein_coding	YES	CCDS72863.1	ENSP00000463650	Q9Y4L5		UPI00001B061B	NM_014455.3	deleterious(0)		1/9		hmmpanther:PTHR22763,hmmpanther:PTHR22763:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	25	145823773	145823773	G	A	1	0	0	0	0	1	0	0	0	13608	1130	39	1		1	RNF115	1	145823773	Missense_Mutation	SNP	G	C3L-01682_TP	35625379	145823773	103132649	4	7808											
LMNA	0	.	GRCh38	chr1	156134458	156134458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatgagatgctgcggcGggtggatgctgagaacaggc	9	7	18	7	2	1	2	1	2	0	2	1	6	1	4	0	5	4	2	0	5	1	0	rs267607571		C3L-01682_TP	C3L-01682_NB	G	G																c.569G>T	p.Arg190Leu	p.R190L	ENST00000368300	3/12	590	525	65	623	621	2	strelka-varscan	LMNA,missense_variant,p.Arg190Leu,ENST00000368300,NM_170707.3;LMNA,missense_variant,p.Arg190Leu,ENST00000347559,NM_170708.3;LMNA,missense_variant,p.Arg190Leu,ENST00000368301,NM_001282625.1,NM_005572.3;LMNA,missense_variant,p.Arg190Leu,ENST00000368299,NM_001282626.1;LMNA,missense_variant,p.Arg91Leu,ENST00000473598,;LMNA,missense_variant,p.Arg78Leu,ENST00000448611,NM_001257374.2;LMNA,missense_variant,p.Arg190Leu,ENST00000361308,;LMNA,missense_variant,p.Arg109Leu,ENST00000368297,NM_001282624.1;LMNA,missense_variant,p.Arg107Leu,ENST00000504687,;LMNA,upstream_gene_variant,,ENST00000508500,;LMNA,non_coding_transcript_exon_variant,,ENST00000502751,;LMNA,non_coding_transcript_exon_variant,,ENST00000470199,;LMNA,non_coding_transcript_exon_variant,,ENST00000502357,;LMNA,upstream_gene_variant,,ENST00000496738,;LMNA,upstream_gene_variant,,ENST00000459904,;LMNA,downstream_gene_variant,,ENST00000469565,;LMNA,3_prime_UTR_variant,,ENST00000515459,;LMNA,upstream_gene_variant,,ENST00000368298,;LMNA,upstream_gene_variant,,ENST00000498722,;LMNA,upstream_gene_variant,,ENST00000506981,;LMNA,upstream_gene_variant,,ENST00000515824,;	T	ENST00000368300	Transcript	missense_variant	781/3190	569/1995	190/664	R/L	cGg/cTg	rs267607571,CM050658,HIFD_LMNA:c.569G>A,COSM1472743,COSM5229102	1		1	LMNA	HGNC	HGNC:6636	protein_coding	YES	CCDS1129.1	ENSP00000357283	P02545		UPI000012E20D	NM_170707.3	deleterious(0)		3/12		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF158,Pfam_domain:PF00038,SMART_domains:SM01391										pathogenic	0,0,0,1,1						MODERATE	1	SNV	1		1,1,0,1,1	1										PASS		.	.												T	3	4	25	156134458	156134458	G	T	1	0	0	0	0	1	0	0	0	8772	1116	39	1		1	LMNA	1	156134458	Missense_Mutation	SNP	G	C3L-01682_TP	10310685	156134458	92821964	5	7809											
FCRL5	0	.	GRCh38	chr1	157521230	157521230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagtgaagctccagcaGgtcccccaccgcagcatggg	9	5	11	16	1	1	1	1	1	0	0	3	1	3	1	4	2	3	4	4	2	1	0	rs780580169		C3L-01682_TP	C3L-01682_NB	G	G																c.2302C>A	p.Leu768Met	p.L768M	ENST00000361835	11/17	211	189	22	177	177	0	strelka-varscan	FCRL5,missense_variant,p.Leu768Met,ENST00000361835,NM_001195388.1,NM_031281.2;FCRL5,downstream_gene_variant,,ENST00000368190,;FCRL5,non_coding_transcript_exon_variant,,ENST00000461387,;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,;FCRL5,upstream_gene_variant,,ENST00000483875,;	T	ENST00000361835	Transcript	missense_variant	2460/5390	2302/2934	768/977	L/M	Ctg/Atg	rs780580169	1		-1	FCRL5	HGNC	HGNC:18508	protein_coding	YES	CCDS1165.1	ENSP00000354691	Q96RD9		UPI0000458907	NM_001195388.1,NM_031281.2	tolerated(0.36)		11/17		PROSITE_profiles:PS50835,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	157521230	157521230	G	T	1	0	0	0	0	1	0	0	0	5660	991	35	2		2	FCRL5	1	157521230	Missense_Mutation	SNP	G	C3L-01682_TP	1386772	157521230	91435192	6	7810											
OLFML2B	0	.	GRCh38	chr1	161983695	161983695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtaggcaaagatgacatGgtaagtgacctggtggccat	12	9	13	7	0	1	3	1	2	0	1	1	3	1	3	2	4	0	3	2	4	3	2			C3L-01682_TP	C3L-01682_NB	G	G																c.2236C>A	p.His746Asn	p.H746N	ENST00000367940	8/8	105	88	17	80	80	0	strelka-varscan	OLFML2B,missense_variant,p.His745Asn,ENST00000294794,NM_015441.2;OLFML2B,missense_variant,p.His746Asn,ENST00000367940,NM_001297713.1;OLFML2B,missense_variant,p.His228Asn,ENST00000367938,;OLFML2B,missense_variant,p.His83Asn,ENST00000525589,;OLFML2B,missense_variant,p.His85Asn,ENST00000533556,;	T	ENST00000367940	Transcript	missense_variant	2446/2685	2236/2256	746/751	H/N	Cat/Aat	COSM4429085	1		-1	OLFML2B	HGNC	HGNC:24558	protein_coding	YES	CCDS72966.1	ENSP00000356917		F2Z3N3	UPI0001AE79B2	NM_001297713.1	tolerated(0.54)		8/8		PROSITE_profiles:PS51132,hmmpanther:PTHR23192:SF37,hmmpanther:PTHR23192,Pfam_domain:PF02191,SMART_domains:SM00284											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	25	161983695	161983695	G	T	1	0	0	0	0	1	0	0	0	10933	1348	47	2		2	OLFML2B	1	161983695	Missense_Mutation	SNP	G	C3L-01682_TP	4462465	161983695	86972727	7	7811											
DTL	0	.	GRCh38	chr1	212100660	212100660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaaagaggaggctagactCaagctgtctggagagtgtga	13	8	15	5	0	2	4	1	1	1	3	2	6	2	5	0	3	1	3	0	3	4	2	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.1670C>T	p.Ser557Leu	p.S557L	ENST00000366991	14/15	390	364	26	353	353	0	strelka-varscan	DTL,missense_variant,p.Ser557Leu,ENST00000366991,NM_016448.3;DTL,missense_variant,p.Ser515Leu,ENST00000542077,NM_001286229.1,NM_001286230.1;RN7SKP98,upstream_gene_variant,,ENST00000517070,;DTL,non_coding_transcript_exon_variant,,ENST00000475419,;DTL,non_coding_transcript_exon_variant,,ENST00000489149,;DTL,non_coding_transcript_exon_variant,,ENST00000496442,;DTL,downstream_gene_variant,,ENST00000463791,;	T	ENST00000366991	Transcript	missense_variant	1984/4573	1670/2193	557/730	S/L	tCa/tTa		1		1	DTL	HGNC	HGNC:30288	protein_coding	YES	CCDS1502.1	ENSP00000355958	Q9NZJ0		UPI000013E1C1	NM_016448.3	deleterious(0.03)		14/15		hmmpanther:PTHR22852																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	212100660	212100660	C	T	1	0	0	0	0	1	0	0	0	4610	838	29	3		3	DTL	1	212100660	Missense_Mutation	SNP	C	C3L-01682_TP	50116965	212100660	36855762	8	7812											
HEATR1	0	.	GRCh38	chr1	236576943	236576943	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttaatgagtaaagatGtcaccactaaaatcaaagga	18	8	8	7	0	2	2	2	1	0	1	2	3	2	3	2	2	0	2	2	2	6	3	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.2762C>A	p.Thr921Lys	p.T921K	ENST00000366582	21/45	95	90	5	80	80	0	strelka-varscan	HEATR1,missense_variant,p.Thr921Lys,ENST00000366582,NM_018072.5;HEATR1,missense_variant,p.Thr921Lys,ENST00000366581,;HEATR1,upstream_gene_variant,,ENST00000490339,;	T	ENST00000366582	Transcript	missense_variant	2877/8447	2762/6435	921/2144	T/K	aCa/aAa		1		-1	HEATR1	HGNC	HGNC:25517	protein_coding	YES	CCDS31066.1	ENSP00000355541	Q9H583		UPI000013D4D4	NM_018072.5	tolerated(0.07)		21/45		Gene3D:1.25.10.10,hmmpanther:PTHR13457,hmmpanther:PTHR13457:SF1,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	25	236576943	236576943	G	T	1	0	0	0	0	1	0	0	0	6910	1377	48	2		2	HEATR1	1	236576943	Missense_Mutation	SNP	G	C3L-01682_TP	24476283	236576943	12379479	9	7813											
OR14A16	0	.	GRCh38	chr1	247815020	247815020	+	Missense_Mutation	SNP	G	G	T																															gcaagtgtggaaggcaaataGagtaggcttttgactggcct																								novel		C3L-01682_TP	C3L-01682_NB	G	G																c.710C>A	p.Ser237Tyr	p.S237Y	ENST00000357627	1/1	192	178	14	212	212	0	strelka-varscan	OR14A16,missense_variant,p.Ser237Tyr,ENST00000357627,NM_001001966.1;	T	ENST00000357627	Transcript	missense_variant	710/930	710/930	237/309	S/Y	tCt/tAt		1		-1	OR14A16	HGNC	HGNC:15022	protein_coding	YES	CCDS31097.1	ENSP00000350248	Q8NHC5		UPI0000041CE2	NM_001001966.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF352,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	25	247815020	247815020	G	T	1	0	0	0	0	1	0	0	0	11021	942	33	2		2	OR14A16	1	247815020	Missense_Mutation	SNP	G	C3L-01682_TP	11238077	247815020	1141402	10	7814	178	2									
OR14A16	0	.	GRCh38	chr1	247815022	247815022	+	Nonsense_Mutation	SNP	G	G	T																															aagtgtggaaggcaaatagaGtaggcttttgactggccttc																								novel		C3L-01682_TP	C3L-01682_NB	G	G																c.708C>A	p.Tyr236Ter	p.Y236*	ENST00000357627	1/1	202	184	18	212	211	1	strelka-varscan	OR14A16,stop_gained,p.Tyr236Ter,ENST00000357627,NM_001001966.1;	T	ENST00000357627	Transcript	stop_gained	708/930	708/930	236/309	Y/*	taC/taA		1		-1	OR14A16	HGNC	HGNC:15022	protein_coding	YES	CCDS31097.1	ENSP00000350248	Q8NHC5		UPI0000041CE2	NM_001001966.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF352,Superfamily_domains:SSF81321																	HIGH	1	SNV				1										PASS		.	.												T	4	4	25	247815022	247815022	G	T	1	0	0	0	0	0	1	0	0	11021	1024	36	2		2	OR14A16	1	247815022	Nonsense_Mutation	SNP	G	C3L-01682_TP	2	247815022	1141400	11	7815	178	2									
DRC1	0	.	GRCh38	chr2	26453373	26453373	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgagcatggaggagacaagCacgaggtcagaattggagct	13	5	16	7	2	1	2	1	0	0	2	1	7	1	4	0	4	3	3	0	4	2	1	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.1743C>A	p.Ser581Arg	p.S581R	ENST00000288710	14/17	415	366	49	412	412	0	strelka-varscan	DRC1,missense_variant,p.Ser581Arg,ENST00000288710,NM_145038.3;OTOF,downstream_gene_variant,,ENST00000272371,NM_194248.2;OTOF,downstream_gene_variant,,ENST00000403946,NM_001287489.1;OTOF,downstream_gene_variant,,ENST00000402415,NM_194322.2;OTOF,downstream_gene_variant,,ENST00000338581,NM_004802.3;OTOF,downstream_gene_variant,,ENST00000339598,NM_194323.2;DRC1,non_coding_transcript_exon_variant,,ENST00000439066,;	A	ENST00000288710	Transcript	missense_variant	1817/2491	1743/2223	581/740	S/R	agC/agA		1		1	DRC1	HGNC	HGNC:24245	protein_coding	YES	CCDS1723.1	ENSP00000288710	Q96MC2		UPI000013DF36	NM_145038.3	tolerated(0.25)		14/17																			MODERATE		SNV	2			1										PASS		.	.												A	3	1	25	26453373	26453373	C	A	1	0	0	0	0	1	0	0	0	4572	709	25	2		2	DRC1	2	26453373	Missense_Mutation	SNP	C	C3L-01682_TP		26453373	215740156	12	7816											
ABCG8	0	.	GRCh38	chr2	43844527	43844527	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctccaggatagattgttCtcctctgaaagtgacaacag	11	10	10	10	0	2	3	0	2	2	1	4	4	3	4	3	2	1	1	3	2	3	3	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.84C>T	p.=	p.F28F	ENST00000272286	2/13	461	417	44	414	413	1	strelka-varscan-mutect	ABCG8,synonymous_variant,p.=,ENST00000272286,NM_022437.2;	T	ENST00000272286	Transcript	synonymous_variant	174/2665	84/2022	28/673	F	ttC/ttT		1		1	ABCG8	HGNC	HGNC:13887	protein_coding	YES	CCDS1815.1	ENSP00000272286	Q9H221		UPI000004C4CD	NM_022437.2			2/13		hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF239																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	25	43844527	43844527	C	T	1	0	0	0	0	0	0	0	1	76	912	32	3		3	ABCG8	2	43844527	Silent	SNP	C	C3L-01682_TP	17391154	43844527	198349002	13	7817											
LHCGR	0	.	GRCh38	chr2	48687737	48687737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttgtctaggagagctgtaCcttgacagtgcaatgtggac	9	12	12	8	0	2	2	0	1	2	1	2	4	2	3	1	2	3	3	1	2	3	4	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.2060G>T	p.Gly687Val	p.G687V	ENST00000294954	11/11	281	251	30	266	266	0	strelka-varscan-mutect	LHCGR,missense_variant,p.Gly687Val,ENST00000294954,NM_000233.3;LHCGR,missense_variant,p.Gly660Val,ENST00000405626,;LHCGR,3_prime_UTR_variant,,ENST00000403273,;LHCGR,3_prime_UTR_variant,,ENST00000401907,;STON1-GTF2A1L,intron_variant,,ENST00000402114,NM_001198593.1;GTF2A1L,intron_variant,,ENST00000508440,;RP11-310N16.1,intron_variant,,ENST00000602369,;	A	ENST00000294954	Transcript	missense_variant	2082/3044	2060/2100	687/699	G/V	gGt/gTt		1		-1	LHCGR	HGNC	HGNC:6585	protein_coding	YES	CCDS1842.1	ENSP00000294954	P22888		UPI000013E1E1	NM_000233.3	tolerated(0.52)		11/11																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	25	48687737	48687737	C	A	1	0	0	0	0	1	0	0	0	8671	507	18	2		2	LHCGR	2	48687737	Missense_Mutation	SNP	C	C3L-01682_TP	4843210	48687737	193505792	14	7818											
INO80B	0	.	GRCh38	chr2	74455596	74455596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaagtcctggggaccaaGaggtgaggccaagagggtca	12	4	17	8	0	1	3	1	1	0	2	2	5	2	5	3	6	0	0	3	6	3	0	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.249G>T	p.Lys83Asn	p.K83N	ENST00000233331	2/5	111	99	12	98	98	0	strelka-varscan-mutect	INO80B,missense_variant,p.Lys83Asn,ENST00000233331,NM_031288.3;INO80B,missense_variant,p.Lys83Asn,ENST00000409917,;INO80B,missense_variant,p.Lys88Asn,ENST00000409493,;INO80B,missense_variant,p.Lys83Asn,ENST00000431187,;WBP1,upstream_gene_variant,,ENST00000393972,;WBP1,upstream_gene_variant,,ENST00000233615,NM_012477.3;WBP1,upstream_gene_variant,,ENST00000409737,;WBP1,upstream_gene_variant,,ENST00000428943,;INO80B,splice_region_variant,,ENST00000494986,;INO80B,intron_variant,,ENST00000469849,;WBP1,upstream_gene_variant,,ENST00000494741,;WBP1,upstream_gene_variant,,ENST00000470536,;WBP1,upstream_gene_variant,,ENST00000466835,;WBP1,upstream_gene_variant,,ENST00000464774,;WBP1,upstream_gene_variant,,ENST00000474185,;INO80B-WBP1,missense_variant,p.Lys83Asn,ENST00000452361,;INO80B-WBP1,missense_variant,p.Lys83Asn,ENST00000441673,;INO80B,missense_variant,p.Lys35Asn,ENST00000455562,;INO80B,splice_region_variant,,ENST00000471577,;INO80B,splice_region_variant,,ENST00000473618,;WBP1,upstream_gene_variant,,ENST00000484744,;WBP1,upstream_gene_variant,,ENST00000490120,;WBP1,upstream_gene_variant,,ENST00000473467,;WBP1,upstream_gene_variant,,ENST00000466303,;WBP1,upstream_gene_variant,,ENST00000492047,;	T	ENST00000233331	Transcript	missense_variant,splice_region_variant	343/1261	249/1071	83/356	K/N	aaG/aaT		1		1	INO80B	HGNC	HGNC:13324	protein_coding	YES	CCDS1942.2	ENSP00000233331	Q9C086		UPI0000456DE1	NM_031288.3	deleterious(0)		2/5		hmmpanther:PTHR21561																	MODERATE	1	SNV	1			1										PASS		rs1236415024	.												T	3	4	25	74455596	74455596	G	T	1	0	0	0	0	1	0	0	0	7650	956	33	2		2	INO80B	2	74455596	Missense_Mutation	SNP	G	C3L-01682_TP	25767859	74455596	167737933	15	7819											
DNAH6	0	.	GRCh38	chr2	84544446	84544446	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaagaatgtccgctccaaGaaaatcactggatgtcaaaa	17	7	9	8	1	2	2	2	0	0	2	4	4	4	4	2	2	0	1	2	2	7	0	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.876G>C	p.Lys292Asn	p.K292N	ENST00000389394	5/77	173	158	15	159	159	0	strelka-varscan-mutect	DNAH6,missense_variant,p.Lys292Asn,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Lys292Asn,ENST00000237449,;DNAH6,downstream_gene_variant,,ENST00000468661,;DNAH6,intron_variant,,ENST00000476689,;DNAH6,intron_variant,,ENST00000494025,;	C	ENST00000389394	Transcript	missense_variant	1013/12795	876/12477	292/4158	K/N	aaG/aaC		1		1	DNAH6	HGNC	HGNC:2951	protein_coding	YES	CCDS46348.1	ENSP00000374045	Q9C0G6		UPI000163AC9D	NM_001370.1	tolerated(0.2)		5/77		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	25	84544446	84544446	G	C	1	0	0	0	0	1	0	0	0	4420	933	33	4		4	DNAH6	2	84544446	Missense_Mutation	SNP	G	C3L-01682_TP	10088850	84544446	157649083	16	7820											
LRP1B	0	.	GRCh38	chr2	140536593	140536593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacttaccacagtagagcaGtttttcatctgatttatctt	11	16	5	9	0	3	2	1	1	2	1	3	2	3	2	1	0	2	3	1	0	3	7	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.7630C>A	p.Leu2544Met	p.L2544M	ENST00000389484	46/91	357	328	29	331	331	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Leu2544Met,ENST00000389484,NM_018557.2;	T	ENST00000389484	Transcript	missense_variant	8602/16535	7630/13800	2544/4599	L/M	Ctg/Atg		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(0.22)		46/91		PROSITE_profiles:PS50068,PROSITE_patterns:PS01209,SMART_domains:SM00192,Superfamily_domains:SSF57424																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	140536593	140536593	G	T	1	0	0	0	0	1	0	0	0	8850	1020	36	2		2	LRP1B	2	140536593	Missense_Mutation	SNP	G	C3L-01682_TP	55992147	140536593	101656936	17	7821											
LRP1B	0	.	GRCh38	chr2	141005435	141005435	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgtactacagcccccattAtttactcggcacatattgtc	10	13	6	12	1	0	0	0	0	0	0	2	0	0	0	2	1	4	2	2	1	5	7	rs749949683		C3L-01682_TP	C3L-01682_NB	A	A																c.2403T>A	p.Asn801Lys	p.N801K	ENST00000389484	15/91	271	255	16	230	229	1	strelka-varscan-mutect	LRP1B,missense_variant,p.Asn801Lys,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	T	ENST00000389484	Transcript	missense_variant	3375/16535	2403/13800	801/4599	N/K	aaT/aaA	rs749949683	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0.05)		15/91		Pfam_domain:PF14670,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		rs749949683	.												T	3	4	25	141005435	141005435	A	T	1	0	0	0	0	1	0	0	0	8850	446	16	4		4	LRP1B	2	141005435	Missense_Mutation	SNP	A	C3L-01682_TP	468842	141005435	101188094	18	7822											
WDSUB1	0	.	GRCh38	chr2	159256249	159256249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taagattcaacagttcttttCcatcaatgttattcatcttg	11	18	4	8	0	5	1	3	0	2	1	6	1	6	1	1	0	1	2	1	0	4	8	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.1079G>A	p.Gly360Glu	p.G360E	ENST00000409990	9/11	176	162	14	192	192	0	strelka-varscan-mutect	WDSUB1,missense_variant,p.Gly360Glu,ENST00000409990,NM_001128213.1;WDSUB1,missense_variant,p.Gly360Glu,ENST00000359774,NM_001128212.1;WDSUB1,missense_variant,p.Gly360Glu,ENST00000392796,NM_152528.2;WDSUB1,missense_variant,p.Gly360Glu,ENST00000409124,;WDSUB1,missense_variant,p.Gly268Glu,ENST00000358147,NM_001307994.1;	T	ENST00000409990	Transcript	missense_variant	1336/1920	1079/1431	360/476	G/E	gGa/gAa		1		-1	WDSUB1	HGNC	HGNC:26697	protein_coding	YES	CCDS2208.1	ENSP00000387078	Q8N9V3	D3DPA6	UPI000058E905	NM_001128213.1	deleterious(0)		9/11		PROSITE_profiles:PS50105,hmmpanther:PTHR22849,hmmpanther:PTHR22849:SF0,Pfam_domain:PF07647,Gene3D:1.10.150.50,SMART_domains:SM00454,Superfamily_domains:SSF47769																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	25	159256249	159256249	C	T	1	0	0	0	0	1	0	0	0	17898	855	30	3		3	WDSUB1	2	159256249	Missense_Mutation	SNP	C	C3L-01682_TP	18250814	159256249	82937280	19	7823											
TTN	0	.	GRCh38	chr2	178804579	178804579	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgagcctcaaaggttgcggTactaccctccagtaccacaa	11	8	9	13	1	1	1	1	1	0	0	2	1	2	1	4	2	5	3	4	2	5	4			C3L-01682_TP	C3L-01682_NB	T	T																c.64A>T	p.Thr22Ser	p.T22S	ENST00000589042	2/363	504	473	31	433	433	0	strelka-varscan-mutect	TTN,missense_variant,p.Thr22Ser,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Thr22Ser,ENST00000591111,;TTN,missense_variant,p.Thr22Ser,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Thr22Ser,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Thr22Ser,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Thr22Ser,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Thr22Ser,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Thr22Ser,ENST00000360870,NM_133379.4;TTN,missense_variant,p.Thr22Ser,ENST00000412264,;TTN,non_coding_transcript_exon_variant,,ENST00000470257,;	A	ENST00000589042	Transcript	missense_variant	289/109224	64/107976	22/35991	T/S	Acc/Tcc	COSM5354841,COSM5354842,COSM5354843,COSM5354844,COSM5354846	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			2/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1,1,1,1						MODERATE	1	SNV	5		1,1,1,1,1	1										PASS		rs1305775594	.												A	3	1	25	178804579	178804579	T	A	1	0	0	0	0	1	0	0	0	17245	1638	57	4		4	TTN	2	178804579	Missense_Mutation	SNP	T	C3L-01682_TP	19548330	178804579	63388950	20	7824											
GULP1	0	.	GRCh38	chr2	188584272	188584272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttcattgcaggcaggcaGtatgacacctaagtcgccct	10	11	9	11	1	1	1	1	1	0	0	2	1	1	1	2	2	1	4	2	2	2	5	rs777660706		C3L-01682_TP	C3L-01682_NB	G	G																c.617G>T	p.Ser206Ile	p.S206I	ENST00000409580	11/13	150	137	13	137	137	0	varscan-mutect	GULP1,missense_variant,p.Ser31Ile,ENST00000451191,;GULP1,missense_variant,p.Ser206Ile,ENST00000409580,;GULP1,missense_variant,p.Ser206Ile,ENST00000359135,;GULP1,missense_variant,p.Ser206Ile,ENST00000409843,NM_001252668.1;GULP1,missense_variant,p.Ser206Ile,ENST00000409609,;GULP1,missense_variant,p.Ser206Ile,ENST00000409830,NM_016315.3;GULP1,missense_variant,p.Ser103Ile,ENST00000409805,NM_001252669.1;GULP1,missense_variant,p.Ser91Ile,ENST00000433052,;GULP1,non_coding_transcript_exon_variant,,ENST00000478306,;GULP1,non_coding_transcript_exon_variant,,ENST00000495745,;GULP1,non_coding_transcript_exon_variant,,ENST00000467422,;GULP1,non_coding_transcript_exon_variant,,ENST00000476422,;	T	ENST00000409580	Transcript	missense_variant	1331/3544	617/915	206/304	S/I	aGt/aTt	rs777660706	1		1	GULP1	HGNC	HGNC:18649	protein_coding	YES	CCDS2295.1	ENSP00000386289	Q9UBP9		UPI0000031CE3		tolerated(0.21)		11/13		hmmpanther:PTHR11232:SF48,hmmpanther:PTHR11232																	MODERATE	1	SNV	2			1										PASS		rs777660706	.												T	3	4	25	188584272	188584272	G	T	1	0	0	0	0	1	0	0	0	6783	1029	36	2		2	GULP1	2	188584272	Missense_Mutation	SNP	G	C3L-01682_TP	9779693	188584272	53609257	21	7825											
AC013264.1	0	.	GRCh38	chr2	197000419	197000419	+	Missense_Mutation	SNP	C	C	A																															tgctgttttagattacttacCtgcctttgtcatctctacaa																								novel		C3L-01682_TP	C3L-01682_NB	C	C																c.2519G>T	p.Arg840Met	p.R840M	ENST00000282272	23/28	268	246	22	245	245	0	strelka-varscan-mutect	ANKRD44,missense_variant,p.Arg815Met,ENST00000328737,;AC013264.1,missense_variant,p.Arg840Met,ENST00000282272,NM_001195144.1;ANKRD44,missense_variant,p.Arg655Met,ENST00000424317,;ANKRD44,missense_variant,p.Arg29Met,ENST00000448801,;ANKRD44,upstream_gene_variant,,ENST00000493808,;	A	ENST00000282272	Transcript	missense_variant,splice_region_variant	2519/2982	2519/2982	840/993	R/M	aGg/aTg		1		-1	AC013264.1	Clone_based_ensembl_gene		protein_coding	YES	CCDS74619.1	ENSP00000282272	Q8N8A2		UPI000185D541	NM_001195144.1	deleterious(0)		23/28		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24158,hmmpanther:PTHR24158:SF19,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	25	197000419	197000419	C	A	1	0	0	0	0	1	0	0	0	123	695	24	2		2	AC013264.1	2	197000419	Missense_Mutation	SNP	C	C3L-01682_TP	8416147	197000419	45193110	22	7826	179	2									
AC013264.1	0	.	GRCh38	chr2	197000420	197000420	+	Missense_Mutation	SNP	T	T	A																															gctgttttagattacttaccTgcctttgtcatctctacaac																								novel		C3L-01682_TP	C3L-01682_NB	T	T																c.2518A>T	p.Arg840Trp	p.R840W	ENST00000282272	23/28	273	249	24	249	249	0	strelka-varscan-mutect	ANKRD44,missense_variant,p.Arg815Trp,ENST00000328737,;AC013264.1,missense_variant,p.Arg840Trp,ENST00000282272,NM_001195144.1;ANKRD44,missense_variant,p.Arg655Trp,ENST00000424317,;ANKRD44,missense_variant,p.Arg29Trp,ENST00000448801,;ANKRD44,upstream_gene_variant,,ENST00000493808,;	A	ENST00000282272	Transcript	missense_variant,splice_region_variant	2518/2982	2518/2982	840/993	R/W	Agg/Tgg		1		-1	AC013264.1	Clone_based_ensembl_gene		protein_coding	YES	CCDS74619.1	ENSP00000282272	Q8N8A2		UPI000185D541	NM_001195144.1	deleterious(0)		23/28		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24158,hmmpanther:PTHR24158:SF19,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	25	197000420	197000420	T	A	1	0	0	0	0	1	0	0	0	123	1594	55	4		4	AC013264.1	2	197000420	Missense_Mutation	SNP	T	C3L-01682_TP	1	197000420	45193109	23	7827	179	2									
MAP2	0	.	GRCh38	chr2	209730248	209730248	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccatggggctgagatcAttacacagtccccaggcaga	11	7	12	11	0	1	2	1	1	0	2	2	4	2	3	3	4	1	2	3	4	1	1	novel		C3L-01682_TP	C3L-01682_NB	A	A																c.5335A>T	p.Ile1779Phe	p.I1779F	ENST00000360351	15/15	405	362	43	344	344	0	strelka-varscan-mutect	MAP2,missense_variant,p.Ile1779Phe,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Ile1775Phe,ENST00000447185,;MAP2,missense_variant,p.Ile423Phe,ENST00000392194,NM_031845.2;MAP2,missense_variant,p.Ile511Phe,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,missense_variant,p.Ile423Phe,ENST00000361559,;MAP2,downstream_gene_variant,,ENST00000475600,;	T	ENST00000360351	Transcript	missense_variant	5841/9711	5335/5484	1779/1827	I/F	Att/Ttt		1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3	deleterious(0)		15/15		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	25	209730248	209730248	A	T	1	0	0	0	0	1	0	0	0	9157	217	8	4		4	MAP2	2	209730248	Missense_Mutation	SNP	A	C3L-01682_TP	12729828	209730248	32463281	24	7828											
GRIP2	0	.	GRCh38	chr3	14524423	14524423	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcatactccacctccaGcaccacgcgctcgcccacat	9	6	5	21	3	1	0	1	0	0	0	4	0	3	0	5	0	3	3	5	0	1	1	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.664C>A	p.Leu222Met	p.L222M	ENST00000619221	5/25	199	178	21	224	224	0	strelka-varscan-mutect	GRIP2,missense_variant,p.Leu222Met,ENST00000619221,;GRIP2,missense_variant,p.Leu125Met,ENST00000621039,NM_001080423.3;GRIP2,missense_variant,p.Leu130Met,ENST00000637182,;GRIP2,missense_variant,p.Leu132Met,ENST00000637939,;GRIP2,non_coding_transcript_exon_variant,,ENST00000422481,;GRIP2,non_coding_transcript_exon_variant,,ENST00000413414,;	T	ENST00000619221	Transcript	missense_variant	664/7977	664/3423	222/1140	L/M	Ctg/Atg		1		-1	GRIP2	HGNC	HGNC:23841	protein_coding	YES		ENSP00000480660		A0A087WX15	UPI0001DD380B		deleterious(0)		5/25		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF42,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	25	14524423	14524423	G	T	1	0	0	0	0	1	0	0	0	6669	962	34	2		2	GRIP2	3	14524423	Missense_Mutation	SNP	G	C3L-01682_TP		14524423	183771136	25	7829											
PLXNB1	0	.	GRCh38	chr3	48415705	48415705	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagggagcgtggcaggCgtggggcgtgggctggtctc	4	6	21	10	3	1	0	0	0	1	0	2	1	1	1	1	7	1	2	1	7	0	0	rs756546017		C3L-01682_TP	C3L-01682_NB	C	C																c.3672G>T	p.=	p.T1224T	ENST00000358536	19/38	164	145	19	157	157	0	strelka-varscan-mutect	PLXNB1,synonymous_variant,p.=,ENST00000358536,NM_002673.5;PLXNB1,synonymous_variant,p.=,ENST00000296440,NM_001130082.2;PLXNB1,synonymous_variant,p.=,ENST00000456774,;PLXNB1,upstream_gene_variant,,ENST00000465117,;PLXNB1,downstream_gene_variant,,ENST00000466353,;PLXNB1,downstream_gene_variant,,ENST00000484485,;PLXNB1,3_prime_UTR_variant,,ENST00000449094,;PLXNB1,non_coding_transcript_exon_variant,,ENST00000464294,;PLXNB1,upstream_gene_variant,,ENST00000485535,;PLXNB1,upstream_gene_variant,,ENST00000473996,;PLXNB1,upstream_gene_variant,,ENST00000461261,;PLXNB1,upstream_gene_variant,,ENST00000470525,;PLXNB1,upstream_gene_variant,,ENST00000467913,;PLXNB1,downstream_gene_variant,,ENST00000462738,;	A	ENST00000358536	Transcript	synonymous_variant	3942/7308	3672/6408	1224/2135	T	acG/acT	rs756546017	1		-1	PLXNB1	HGNC	HGNC:9103	protein_coding	YES	CCDS2765.1	ENSP00000351338	O43157		UPI0000038131	NM_002673.5			19/38		Gene3D:2.60.40.10,Pfam_domain:PF01833,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF36,SMART_domains:SM00429,Superfamily_domains:SSF81296																	LOW	1	SNV	1			1										PASS		rs756546017	.												A	2	1	25	48415705	48415705	C	A	1	0	0	0	0	0	0	0	1	12229	755	27	1		1	PLXNB1	3	48415705	Silent	SNP	C	C3L-01682_TP	33891282	48415705	149879854	26	7830											
GPR62	0	.	GRCh38	chr3	51956679	51956679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctgccgtaggcccttctGaggctccagaacagaccccc	7	6	10	18	1	1	3	0	1	1	2	2	3	2	3	6	2	2	2	6	2	2	2			C3L-01682_TP	C3L-01682_NB	G	G																c.1027G>A	p.Glu343Lys	p.E343K	ENST00000322241	1/1	233	219	14	229	229	0	strelka-varscan-mutect	GPR62,missense_variant,p.Glu343Lys,ENST00000322241,NM_080865.3;PCBP4,downstream_gene_variant,,ENST00000461554,NM_001174100.1;PCBP4,downstream_gene_variant,,ENST00000355852,NM_033008.2;PCBP4,downstream_gene_variant,,ENST00000484633,NM_020418.3;PCBP4,downstream_gene_variant,,ENST00000322099,NM_033010.2;PCBP4,downstream_gene_variant,,ENST00000428823,;PCBP4,downstream_gene_variant,,ENST00000471622,;PCBP4,downstream_gene_variant,,ENST00000395014,;PCBP4,downstream_gene_variant,,ENST00000466412,;PCBP4,downstream_gene_variant,,ENST00000468324,;PCBP4,downstream_gene_variant,,ENST00000483411,;PCBP4,downstream_gene_variant,,ENST00000461544,;PCBP4,downstream_gene_variant,,ENST00000497653,;PCBP4,downstream_gene_variant,,ENST00000489595,;PCBP4,downstream_gene_variant,,ENST00000490063,;RP11-155D18.13,upstream_gene_variant,,ENST00000624646,;RP11-155D18.12,downstream_gene_variant,,ENST00000488257,;PCBP4,downstream_gene_variant,,ENST00000492809,;PCBP4,downstream_gene_variant,,ENST00000498822,;PCBP4,downstream_gene_variant,,ENST00000497390,;PCBP4,downstream_gene_variant,,ENST00000471308,;PCBP4,downstream_gene_variant,,ENST00000471358,;	A	ENST00000322241	Transcript	missense_variant	1366/2191	1027/1107	343/368	E/K	Gag/Aag	COSM3775211	1		1	GPR62	HGNC	HGNC:13301	protein_coding	YES	CCDS2838.1	ENSP00000319250	Q9BZJ7		UPI0000457117	NM_080865.3	tolerated(0.58)		1/1		hmmpanther:PTHR22752:SF6,hmmpanther:PTHR22752											1						MODERATE		SNV			1	1										PASS		.	.												A	3	1	25	51956679	51956679	G	A	1	0	0	0	0	1	0	0	0	6587	1291	45	3		3	GPR62	3	51956679	Missense_Mutation	SNP	G	C3L-01682_TP	3540974	51956679	146338880	27	7831											
SLC34A2	0	.	GRCh38	chr4	25676472	25676485	+	Frame_Shift_Del	DEL	CGCTGAAGCCCTGG	CGCTGAAGCCCTGG	-																															cctgccgctgtggatgcgctCgctgaagccctgggatgccg																								novel		C3L-01682_TP	C3L-01682_NB	CGCTGAAGCCCTGG	CGCTGAAGCCCTGG																c.1796_1809delCGCTGAAGCCCTGG	p.Ser599Ter	p.S599*	ENST00000382051	13/13	87	79	8	76	76	0	sindel-pindel	SLC34A2,frameshift_variant,p.Ser599Ter,ENST00000382051,NM_006424.2;SLC34A2,frameshift_variant,p.Ser598Ter,ENST00000503434,NM_001177999.1;SLC34A2,frameshift_variant,p.Ser598Ter,ENST00000504570,NM_001177998.1;RP11-302F12.1,upstream_gene_variant,,ENST00000496507,;	-	ENST00000382051	Transcript	frameshift_variant	1846-1859/4122	1796-1809/2073	599-603/690	SLKPW/X	tCGCTGAAGCCCTGG/t		1		1	SLC34A2	HGNC	HGNC:11020	protein_coding	YES	CCDS3435.1	ENSP00000371483	O95436		UPI000013DF24	NM_006424.2			13/13		hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF23,TIGRFAM_domain:TIGR01013																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	25	25676472	25676472	CGCTGAAGCCCTGG	-	1	0	1	0	1	0	0	0	0	14838	893	31	0		0	SLC34A2	4	25676472	Frame_Shift_Del	DEL	CGCTGAAGCCCTGG	C3L-01682_TP		25676472	164538083	28	7832											
KLB	0	.	GRCh38	chr4	39434291	39434291	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcgatcacgttgggatctCattggatcgagccaaaccgg	10	10	11	10	4	2	0	2	0	1	0	5	4	2	2	2	3	2	1	2	3	2	3	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.907C>G	p.His303Asp	p.H303D	ENST00000257408	2/5	191	178	13	220	219	1	strelka-varscan	KLB,missense_variant,p.His303Asp,ENST00000257408,NM_175737.3;	G	ENST00000257408	Transcript	missense_variant	1004/6082	907/3135	303/1044	H/D	Cat/Gat		1		1	KLB	HGNC	HGNC:15527	protein_coding	YES	CCDS3451.1	ENSP00000257408	Q86Z14		UPI000000D726	NM_175737.3	tolerated(0.05)		2/5		Gene3D:3.20.20.80,Pfam_domain:PF00232,hmmpanther:PTHR10353,hmmpanther:PTHR10353:SF68,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	25	39434291	39434291	C	G	1	0	0	0	0	1	0	0	0	8197	826	29	4		4	KLB	4	39434291	Missense_Mutation	SNP	C	C3L-01682_TP	13757819	39434291	150780264	29	7833											
ATP10D	0	.	GRCh38	chr4	47568871	47568871	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgatgagcacaattttgaAagaacttcagaagaaaactc	17	9	8	7	0	1	6	1	3	0	3	2	6	1	6	0	0	3	2	0	0	6	3	novel		C3L-01682_TP	C3L-01682_NB	A	A																c.2888A>T	p.Lys963Ile	p.K963I	ENST00000273859	16/23	143	135	8	132	132	0	strelka-varscan	ATP10D,missense_variant,p.Lys963Ile,ENST00000273859,NM_020453.3;ATP10D,3_prime_UTR_variant,,ENST00000503288,;	T	ENST00000273859	Transcript	missense_variant	3157/6655	2888/4281	963/1426	K/I	aAa/aTa		1		1	ATP10D	HGNC	HGNC:13549	protein_coding	YES	CCDS3476.1	ENSP00000273859	Q9P241		UPI00001AE9B7	NM_020453.3	tolerated(0.05)		16/23		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF84,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01652																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	47568871	47568871	A	T	1	0	0	0	0	1	0	0	0	1270	14	1	4		4	ATP10D	4	47568871	Missense_Mutation	SNP	A	C3L-01682_TP	8134580	47568871	142645684	30	7834											
IBSP	0	.	GRCh38	chr4	87811587	87811587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagtgtcactggagccaatGcagaagacaccacagagacc	16	4	10	11	0	1	3	1	0	0	3	1	5	1	4	3	1	2	1	3	1	3	0	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.631G>T	p.Ala211Ser	p.A211S	ENST00000226284	7/7	224	211	13	206	206	0	strelka-varscan-mutect	IBSP,missense_variant,p.Ala211Ser,ENST00000226284,NM_004967.3;	T	ENST00000226284	Transcript	missense_variant	698/1546	631/954	211/317	A/S	Gca/Tca		1		1	IBSP	HGNC	HGNC:5341	protein_coding	YES	CCDS3624.1	ENSP00000226284	P21815		UPI000013C899	NM_004967.3	tolerated(0.38)		7/7		hmmpanther:PTHR10345:SF0,hmmpanther:PTHR10345,Pfam_domain:PF05432																	MODERATE	1	SNV	1			1										PASS		rs1349058180	.												T	3	4	25	87811587	87811587	G	T	1	0	0	0	0	1	0	0	0	7375	1319	46	2		2	IBSP	4	87811587	Missense_Mutation	SNP	G	C3L-01682_TP	40242716	87811587	102402968	31	7835											
RAB33B	0	.	GRCh38	chr4	139454407	139454407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgataggggtggatttccGagaacgagcggtggagattg	10	8	17	6	4	0	2	0	0	0	2	1	7	1	3	1	5	2	0	1	5	2	3	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.212G>A	p.Arg71Gln	p.R71Q	ENST00000305626	1/2	241	228	13	190	190	0	strelka-varscan-mutect	RAB33B,missense_variant,p.Arg71Gln,ENST00000305626,NM_031296.1;RP11-83A24.2,upstream_gene_variant,,ENST00000610159,;RP11-83A24.2,upstream_gene_variant,,ENST00000608661,;RP11-83A24.2,upstream_gene_variant,,ENST00000609359,;RP11-83A24.2,upstream_gene_variant,,ENST00000608663,;RAB33B,downstream_gene_variant,,ENST00000507271,;	A	ENST00000305626	Transcript	missense_variant	601/4562	212/690	71/229	R/Q	cGa/cAa		1		1	RAB33B	HGNC	HGNC:16075	protein_coding	YES	CCDS3747.1	ENSP00000306496	Q9H082		UPI000000123D	NM_031296.1	deleterious(0.04)		1/2		PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF378,hmmpanther:PTHR24073,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	25	139454407	139454407	G	A	1	0	0	0	0	1	0	0	0	13082	1058	37	1		1	RAB33B	4	139454407	Missense_Mutation	SNP	G	C3L-01682_TP	51642820	139454407	50760148	32	7836											
DDX60	0	.	GRCh38	chr4	168283602	168283602	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaacacgagggtctctagaTttttctgaaaaagaaaagac	17	9	9	6	1	2	5	0	1	2	4	3	6	2	5	0	1	1	0	0	1	6	3	novel		C3L-01682_TP	C3L-01682_NB	T	T																c.1566A>T	p.Lys522Asn	p.K522N	ENST00000393743	13/38	134	113	21	131	131	0	strelka-varscan	DDX60,missense_variant,p.Lys522Asn,ENST00000393743,NM_017631.5;	A	ENST00000393743	Transcript	missense_variant	1858/6071	1566/5139	522/1712	K/N	aaA/aaT		1		-1	DDX60	HGNC	HGNC:25942	protein_coding	YES	CCDS34097.1	ENSP00000377344	Q8IY21		UPI000020B6AB	NM_017631.5	tolerated(0.15)		13/38																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	25	168283602	168283602	T	A	1	0	0	0	0	1	0	0	0	4181	1507	52	4		4	DDX60	4	168283602	Missense_Mutation	SNP	T	C3L-01682_TP	28829195	168283602	21930953	33	7837											
FAT1	0	.	GRCh38	chr4	186599933	186599933	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgcaaacgcctccattcTggcaagggttgctggcgcag	8	9	13	11	2	1	0	0	0	1	0	2	1	2	0	2	3	3	5	2	3	2	3	novel		C3L-01682_TP	C3L-01682_NB	T	T																c.12068A>T	p.Gln4023Leu	p.Q4023L	ENST00000441802	22/27	155	130	25	150	150	0	strelka-varscan-mutect	FAT1,missense_variant,p.Gln4023Leu,ENST00000441802,NM_005245.3;FAT1,missense_variant,p.Gln4025Leu,ENST00000614102,;FAT1,upstream_gene_variant,,ENST00000512772,;FAT1,upstream_gene_variant,,ENST00000507105,;FAT1,upstream_gene_variant,,ENST00000509927,;FAT1,upstream_gene_variant,,ENST00000512347,;FAT1,upstream_gene_variant,,ENST00000507662,;FAT1,upstream_gene_variant,,ENST00000500085,;FAT1,upstream_gene_variant,,ENST00000509537,;FAT1,downstream_gene_variant,,ENST00000503253,;	A	ENST00000441802	Transcript	missense_variant	12278/14786	12068/13767	4023/4588	Q/L	cAg/cTg		1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3	tolerated(1)		22/27		Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_profiles:PS50026,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	25	186599933	186599933	T	A	1	0	0	0	0	1	0	0	0	5549	1580	55	4		4	FAT1	4	186599933	Missense_Mutation	SNP	T	C3L-01682_TP	18316331	186599933	3614622	34	7838											
TARS	0	.	GRCh38	chr5	33462191	33462198	+	Frame_Shift_Del	DEL	ATGGGGGC	ATGGGGGC	-																															tgctatcctcacagaaaactAtgggggcaaatggtaatttt																								novel		C3L-01682_TP	C3L-01682_NB	ATGGGGGC	ATGGGGGC																c.1923_1930delTGGGGGCA	p.Tyr641Ter	p.Y641*	ENST00000455217	17/20	220	194	26	263	263	0	sindel-varindel-pindel	TARS,frameshift_variant,p.Tyr608Ter,ENST00000265112,NM_152295.4;TARS,frameshift_variant,p.Tyr608Ter,ENST00000502553,NM_001258437.1;TARS,frameshift_variant,p.Tyr641Ter,ENST00000455217,NM_001258438.1;TARS,non_coding_transcript_exon_variant,,ENST00000509410,;TARS,3_prime_UTR_variant,,ENST00000508361,;TARS,3_prime_UTR_variant,,ENST00000507716,;TARS,3_prime_UTR_variant,,ENST00000509731,;TARS,upstream_gene_variant,,ENST00000503422,;TARS,downstream_gene_variant,,ENST00000504698,;	-	ENST00000455217	Transcript	frameshift_variant	2044-2051/2523	1922-1929/2271	641-643/756	YGG/X	tATGGGGGC/t		1		1	TARS	HGNC	HGNC:11572	protein_coding	YES	CCDS58943.1	ENSP00000387710	P26639		UPI00017A6D60	NM_001258438.1			17/20		PROSITE_profiles:PS50862,HAMAP:MF_00184,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF36,TIGRFAM_domain:TIGR00418,Gene3D:3.30.930.10,Gene3D:3.40.50.800,Pfam_domain:PF00587,Superfamily_domains:SSF52954																	HIGH	1	deletion	2	1		1										PASS		.	.												-	7	5	25	33462191	33462191	ATGGGGGC	-	1	0	1	0	1	0	0	0	0	15958	449	16	0		0	TARS	5	33462191	Frame_Shift_Del	DEL	ATGGGGGC	C3L-01682_TP		33462191	148076068	35	7839											
CARTPT	0	.	GRCh38	chr5	71720593	71720593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgaggaacctcctgcaattCcttcctcctgaagtgcttat	8	12	7	14	1	0	1	0	1	0	0	4	3	4	2	6	1	3	2	6	1	4	3	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.329C>A	p.Ser110Tyr	p.S110Y	ENST00000296777	3/3	474	427	47	472	470	2	strelka-varscan-mutect	CARTPT,missense_variant,p.Ser110Tyr,ENST00000296777,NM_004291.3;CARTPT,non_coding_transcript_exon_variant,,ENST00000513096,;	A	ENST00000296777	Transcript	missense_variant	460/915	329/351	110/116	S/Y	tCc/tAc		1		1	CARTPT	HGNC	HGNC:24323	protein_coding	YES	CCDS4011.1	ENSP00000296777	Q16568		UPI00000015E9	NM_004291.3	tolerated(0.44)		3/3		hmmpanther:PTHR16655,Pfam_domain:PF06373,Gene3D:1hy9A00,Superfamily_domains:0047261																	MODERATE	1	SNV	1			1										PASS		rs1302611855	.												A	3	1	25	71720593	71720593	C	A	1	0	0	0	0	1	0	0	0	2358	855	30	2		2	CARTPT	5	71720593	Missense_Mutation	SNP	C	C3L-01682_TP	38258402	71720593	109817666	36	7840											
KDM3B	0	.	GRCh38	chr5	138429893	138429893	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaggattcatgatggaaaAgagaagccaggtgctttatg	14	9	13	5	0	1	3	1	1	0	2	1	6	1	5	1	3	2	1	1	3	4	3	novel		C3L-01682_TP	C3L-01682_NB	A	A																c.4821A>G	p.=	p.K1607K	ENST00000314358	21/24	381	344	37	343	343	0	strelka-varscan-mutect	KDM3B,synonymous_variant,p.=,ENST00000314358,NM_016604.3;KDM3B,synonymous_variant,p.=,ENST00000542866,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;KDM3B,downstream_gene_variant,,ENST00000505756,;KDM3B,downstream_gene_variant,,ENST00000509468,;	G	ENST00000314358	Transcript	synonymous_variant	5021/6813	4821/5286	1607/1761	K	aaA/aaG		1		1	KDM3B	HGNC	HGNC:1337	protein_coding	YES	CCDS34242.1	ENSP00000326563	Q7LBC6		UPI000020C6A8	NM_016604.3			21/24		Pfam_domain:PF02373,PROSITE_profiles:PS51184,hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8,SMART_domains:SM00558																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	25	138429893	138429893	A	G	1	0	0	0	0	0	0	0	1	8045	69	3	5		5	KDM3B	5	138429893	Silent	SNP	A	C3L-01682_TP	66709300	138429893	43108366	37	7841											
ADAM19	0	.	GRCh38	chr5	157481853	157481853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcaccagggggccgcagtgGggatgcacctcctggcctgg	6	5	17	13	1	0	0	0	0	0	0	1	1	1	1	5	6	2	3	5	6	0	0	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.2641C>A	p.Pro881Thr	p.P881T	ENST00000257527	22/23	297	268	29	284	284	0	strelka-varscan-mutect	ADAM19,missense_variant,p.Pro881Thr,ENST00000257527,NM_033274.4;ADAM19,missense_variant,p.Pro881Thr,ENST00000517905,;ADAM19,missense_variant,p.Pro452Thr,ENST00000517374,;ADAM19,intron_variant,,ENST00000517951,;	T	ENST00000257527	Transcript	missense_variant	2720/6481	2641/2757	881/918	P/T	Cca/Aca		1		-1	ADAM19	HGNC	HGNC:197	protein_coding	YES	CCDS4338.1	ENSP00000257527	Q9H013		UPI000013CF6A	NM_033274.4	tolerated(0.76)		22/23																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	157481853	157481853	G	T	1	0	0	0	0	1	0	0	0	284	1232	43	2		2	ADAM19	5	157481853	Missense_Mutation	SNP	G	C3L-01682_TP	19051960	157481853	24056406	38	7842											
ADAM19	0	.	GRCh38	chr5	157491685	157491686	+	Frame_Shift_Ins	INS	-	-	C																															tgcagaagggcggggcccagINScccggcaggcagtggcagtt																								novel		C3L-01682_TP	C3L-01682_NB	-	-																c.2024dupG	p.Trp676LeufsTer23	p.W676Lfs*23	ENST00000257527	18/23	36	31	5	54	54	0	sindel-pindel	ADAM19,frameshift_variant,p.Trp676LeufsTer23,ENST00000257527,NM_033274.4;ADAM19,frameshift_variant,p.Trp676LeufsTer23,ENST00000517905,;ADAM19,frameshift_variant,p.Trp247LeufsTer23,ENST00000517374,;ADAM19,3_prime_UTR_variant,,ENST00000517951,;	C	ENST00000257527	Transcript	frameshift_variant	2103-2104/6481	2024-2025/2757	675/918	G/GX	ggc/ggGc		1		-1	ADAM19	HGNC	HGNC:197	protein_coding	YES	CCDS4338.1	ENSP00000257527	Q9H013		UPI000013CF6A	NM_033274.4			18/23		PROSITE_profiles:PS50026,hmmpanther:PTHR11905:SF19,hmmpanther:PTHR11905,PROSITE_patterns:PS01186																	HIGH	1	insertion	1			1										PASS		.	.												C	7	5	25	157491685	157491685	-	C	1	0	1	1	0	0	0	0	0	284	958	34	0		0	ADAM19	5	157491685	Frame_Shift_Ins	INS	-	C3L-01682_TP	9832	157491685	24046574	39	7843											
DEK	0	.	GRCh38	chr6	18237389	18237389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctaacataccttttttgGaactgttttgattcttcttg	7	22	5	7	0	3	1	0	1	3	0	3	2	3	2	1	1	3	1	1	1	3	11	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.890C>A	p.Ser297Tyr	p.S297Y	ENST00000397239	8/11	147	137	10	134	132	2	varscan-mutect	DEK,missense_variant,p.Ser297Tyr,ENST00000397239,NM_003472.3;DEK,missense_variant,p.Ser263Tyr,ENST00000244776,NM_001134709.1;DEK,missense_variant,p.Ser73Tyr,ENST00000507591,;DEK,missense_variant,p.Ser269Tyr,ENST00000505224,;DEK,3_prime_UTR_variant,,ENST00000515770,;DEK,non_coding_transcript_exon_variant,,ENST00000512145,;	T	ENST00000397239	Transcript	missense_variant	1338/3427	890/1128	297/375	S/Y	tCc/tAc		1		-1	DEK	HGNC	HGNC:2768	protein_coding	YES	CCDS34344.1	ENSP00000380414	P35659		UPI0000001C2C	NM_003472.3	tolerated(0.09)		8/11		Low_complexity_(Seg):seg,hmmpanther:PTHR13468																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	18237389	18237389	G	T	1	0	0	0	0	1	0	0	0	4229	1174	41	2		2	DEK	6	18237389	Missense_Mutation	SNP	G	C3L-01682_TP		18237389	152568590	40	7844											
LRFN2	0	.	GRCh38	chr6	40431975	40431975	+	Frame_Shift_Del	DEL	G	G	-																															tggtgctgttgctgaggtgtGgcagctggacgatggagacc																								novel		C3L-01682_TP	C3L-01682_NB	G	G																c.1139delC	p.Pro380HisfsTer52	p.P380Hfs*52	ENST00000338305	2/3	223	204	19	236	236	0	sindel-varindel-pindel	LRFN2,frameshift_variant,p.Pro380HisfsTer52,ENST00000338305,NM_020737.2;	-	ENST00000338305	Transcript	frameshift_variant	1682/3270	1139/2370	380/789	P/X	cCa/ca		1		-1	LRFN2	HGNC	HGNC:21226	protein_coding	YES	CCDS34443.1	ENSP00000345985	Q9ULH4		UPI00001C1E47	NM_020737.2			2/3		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	25	40431975	40431975	G	-	1	0	1	0	1	0	0	0	0	8832	1348	47	0		0	LRFN2	6	40431975	Frame_Shift_Del	DEL	G	C3L-01682_TP	22194586	40431975	130374004	41	7845											
TREML4	0	.	GRCh38	chr6	41230109	41230109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggccatccctccatcaatGgctctgagaccaggtaggtc	8	9	10	14	0	2	1	1	1	1	1	5	2	4	1	4	4	0	2	4	4	2	1	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.493G>T	p.Gly165Cys	p.G165C	ENST00000341495	4/6	186	169	17	152	152	0	strelka-varscan-mutect	TREML4,missense_variant,p.Gly165Cys,ENST00000341495,NM_198153.2;TREML4,missense_variant,p.Gly165Cys,ENST00000448827,;TREML4,missense_variant,p.Gly64Cys,ENST00000461240,;	T	ENST00000341495	Transcript	missense_variant	597/2070	493/603	165/200	G/C	Ggc/Tgc		1		1	TREML4	HGNC	HGNC:30807	protein_coding	YES	CCDS34446.1	ENSP00000342570	Q6UXN2		UPI00001D696F	NM_198153.2	deleterious(0)		4/6		hmmpanther:PTHR16423,hmmpanther:PTHR16423:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	41230109	41230109	G	T	1	0	0	0	0	1	0	0	0	16963	1348	47	2		2	TREML4	6	41230109	Missense_Mutation	SNP	G	C3L-01682_TP	798134	41230109	129575870	42	7846											
OOEP	0	.	GRCh38	chr6	73369279	73369279	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acccgattctgtacacggggCcgcccgaaaacggtgatttc	9	8	11	13	5	1	1	0	1	1	0	2	3	1	1	3	3	2	1	3	3	3	3	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.297G>T	p.=	p.R99R	ENST00000370359	2/3	215	202	13	192	192	0	strelka-mutect	OOEP,synonymous_variant,p.=,ENST00000370363,;OOEP,synonymous_variant,p.=,ENST00000441145,;OOEP,synonymous_variant,p.=,ENST00000370359,NM_001080507.2;OOEP-AS1,upstream_gene_variant,,ENST00000445350,;RPL39P3,downstream_gene_variant,,ENST00000424573,;	A	ENST00000370359	Transcript	synonymous_variant	297/478	297/450	99/149	R	cgG/cgT		1		-1	OOEP	HGNC	HGNC:21382	protein_coding	YES	CCDS47451.1	ENSP00000359384	A6NGQ2		UPI00001D8132	NM_001080507.2			2/3		hmmpanther:PTHR19447:SF14,hmmpanther:PTHR19447,Pfam_domain:PF16005																	LOW	1	SNV	1			1										PASS		rs1255565067	.												A	2	1	25	73369279	73369279	C	A	1	0	0	0	0	0	0	0	1	10946	726	26	2		2	OOEP	6	73369279	Silent	SNP	C	C3L-01682_TP	32139170	73369279	97436700	43	7847											
SNX14	0	.	GRCh38	chr6	85533755	85533755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtattaggtgtgctcacagCctccactggagaatcatctt	10	12	9	10	0	3	1	2	0	1	1	4	2	4	1	2	2	2	2	2	2	3	3	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.1654G>T	p.Ala552Ser	p.A552S	ENST00000314673	18/29	349	315	34	332	331	1	strelka-varscan-mutect	SNX14,missense_variant,p.Ala552Ser,ENST00000314673,NM_153816.5;SNX14,missense_variant,p.Ala499Ser,ENST00000346348,NM_020468.5;SNX14,missense_variant,p.Ala470Ser,ENST00000515216,;SNX14,missense_variant,p.Ala500Ser,ENST00000505648,NM_001304479.1;SNX14,missense_variant,p.Ala543Ser,ENST00000369627,NM_001297614.2;SNX14,intron_variant,,ENST00000513865,;SNX14,non_coding_transcript_exon_variant,,ENST00000508980,;SNX14,3_prime_UTR_variant,,ENST00000369635,;SNX14,non_coding_transcript_exon_variant,,ENST00000503491,;SNX14,non_coding_transcript_exon_variant,,ENST00000506182,;SNX14,non_coding_transcript_exon_variant,,ENST00000514801,;SNX14,upstream_gene_variant,,ENST00000503608,;	A	ENST00000314673	Transcript	missense_variant	1831/3486	1654/2841	552/946	A/S	Gct/Tct		1		-1	SNX14	HGNC	HGNC:14977	protein_coding	YES	CCDS5004.1	ENSP00000313121	Q9Y5W7		UPI000013F8C8	NM_153816.5	tolerated(0.72)		18/29		hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	25	85533755	85533755	C	A	1	0	0	0	0	1	0	0	0	15206	739	26	2		2	SNX14	6	85533755	Missense_Mutation	SNP	C	C3L-01682_TP	12164476	85533755	85272224	44	7848											
REV3L	0	.	GRCh38	chr6	111373453	111373453	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagataaactatcttcaagTgagtaacaactttcaaagcc	16	10	7	8	0	3	2	2	1	1	1	3	3	3	2	1	1	4	1	1	1	7	5	novel		C3L-01682_TP	C3L-01682_NB	T	T																c.4902A>C	p.=	p.S1634S	ENST00000358835	14/33	216	203	13	201	201	0	strelka-varscan-mutect	REV3L,synonymous_variant,p.=,ENST00000435970,NM_001286431.1,NM_001286432.1;REV3L,synonymous_variant,p.=,ENST00000358835,NM_002912.4;REV3L,synonymous_variant,p.=,ENST00000368802,;REV3L,synonymous_variant,p.=,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,;	G	ENST00000358835	Transcript	synonymous_variant	5360/10815	4902/9393	1634/3130	S	tcA/tcC		1		-1	REV3L	HGNC	HGNC:9968	protein_coding	YES	CCDS5091.2	ENSP00000351697	O60673		UPI0000140023	NM_002912.4			14/33																			LOW	1	SNV	5			1										PASS		.	.												G	2	3	25	111373453	111373453	T	G	1	0	0	0	0	0	0	0	1	13411	1683	59	5		5	REV3L	6	111373453	Silent	SNP	T	C3L-01682_TP	25839698	111373453	59432526	45	7849											
FAM26D	0	.	GRCh38	chr6	116557864	116557864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttggcaaccattgctGccttagtctcctgctgtgtg	5	14	9	13	0	2	0	1	0	1	0	3	0	2	0	4	1	4	3	4	1	2	3	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.169G>T	p.Ala57Ser	p.A57S	ENST00000405399	4/4	173	155	18	148	148	0	strelka-varscan-mutect	FAM26D,missense_variant,p.Ala200Ser,ENST00000368596,;FAM26D,missense_variant,p.Ala14Ser,ENST00000368597,NM_001256889.1,NM_153036.3;FAM26D,missense_variant,p.Ala57Ser,ENST00000405399,NM_001256887.1;FAM26D,missense_variant,p.Ala56Ser,ENST00000628083,NM_001256888.1;FAM26D,missense_variant,p.Ala14Ser,ENST00000452373,;	T	ENST00000405399	Transcript	missense_variant	454/1165	169/516	57/171	A/S	Gcc/Tcc		1		1	FAM26D	HGNC	HGNC:21094	protein_coding	YES	CCDS59032.1	ENSP00000385836	Q5JW98		UPI000056D4A2	NM_001256887.1	deleterious(0)		4/4		Transmembrane_helices:TMhelix,hmmpanther:PTHR32261,hmmpanther:PTHR32261:SF5,Pfam_domain:PF14798																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	116557864	116557864	G	T	1	0	0	0	0	1	0	0	0	5431	1319	46	2		2	FAM26D	6	116557864	Missense_Mutation	SNP	G	C3L-01682_TP	5184411	116557864	54248115	46	7850											
TTLL2	0	.	GRCh38	chr6	167341073	167341073	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaggtcaactacagcccAgccttgaccttggattgttc	9	12	9	11	0	1	2	1	1	0	1	2	3	1	3	3	2	4	1	3	2	3	6	novel		C3L-01682_TP	C3L-01682_NB	A	A																c.1173A>T	p.=	p.P391P	ENST00000239587	3/3	359	327	32	333	333	0	strelka-varscan-mutect	TTLL2,synonymous_variant,p.=,ENST00000239587,NM_031949.4;TTLL2,synonymous_variant,p.=,ENST00000515138,;TTLL2,downstream_gene_variant,,ENST00000512917,;	T	ENST00000239587	Transcript	synonymous_variant	1261/2075	1173/1779	391/592	P	ccA/ccT		1		1	TTLL2	HGNC	HGNC:21211	protein_coding	YES	CCDS5301.1	ENSP00000239587	Q9BWV7		UPI00001A3A8B	NM_031949.4			3/3		Pfam_domain:PF03133,PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF11,Superfamily_domains:SSF56059																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	25	167341073	167341073	A	T	1	0	0	0	0	0	0	0	1	17238	175	7	4		4	TTLL2	6	167341073	Silent	SNP	A	C3L-01682_TP	50783209	167341073	3464906	47	7851											
TRIM50	0	.	GRCh38	chr7	73313199	73313199	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggcaggcaaaggcttCgtacacccggccctccttca	7	6	12	16	3	1	0	1	0	0	0	3	0	2	0	4	5	1	4	4	5	2	3	rs370311701		C3L-01682_TP	C3L-01682_NB	C	C																c.1186G>T	p.Glu396Ter	p.E396*	ENST00000333149	7/7	178	168	10	186	186	0	strelka-varscan-mutect	TRIM50,stop_gained,p.Glu396Ter,ENST00000333149,NM_178125.3,NM_001281450.1;TRIM50,stop_gained,p.Glu396Ter,ENST00000453152,NM_001281451.1;NSUN5,upstream_gene_variant,,ENST00000428206,NM_001168348.2;NSUN5,upstream_gene_variant,,ENST00000252594,NM_018044.4;NSUN5,upstream_gene_variant,,ENST00000438747,NM_148956.3;NSUN5,upstream_gene_variant,,ENST00000310326,NM_001168347.2;NSUN5,upstream_gene_variant,,ENST00000471461,;TRIM50,downstream_gene_variant,,ENST00000488217,;NSUN5,upstream_gene_variant,,ENST00000455763,;RP11-483G21.3,upstream_gene_variant,,ENST00000417100,;	A	ENST00000333149	Transcript	stop_gained	1387/2047	1186/1464	396/487	E/*	Gaa/Taa	rs370311701	1		-1	TRIM50	HGNC	HGNC:19017	protein_coding	YES	CCDS34654.1	ENSP00000327994	Q86XT4	Q2M204	UPI0000684286	NM_178125.3,NM_001281450.1			7/7		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF399,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	HIGH	1	SNV	1			1										PASS		rs370311701	.												A	4	1	25	73313199	73313199	C	A	1	0	0	0	0	0	1	0	0	17018	893	31	1		1	TRIM50	7	73313199	Nonsense_Mutation	SNP	C	C3L-01682_TP		73313199	86032774	48	7852											
MAGI2	0	.	GRCh38	chr7	78135022	78135022	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcctcaggcactcaccCtcctgaggaatgatgcgaag	9	7	12	13	1	2	2	2	2	0	0	3	4	3	3	3	3	2	2	3	3	2	0	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.3030G>C	p.Glu1010Asp	p.E1010D	ENST00000354212	17/22	116	108	8	119	119	0	strelka-varscan-mutect	MAGI2,missense_variant,p.Glu1010Asp,ENST00000354212,NM_012301.3;MAGI2,missense_variant,p.Glu996Asp,ENST00000419488,NM_001301128.1;MAGI2,missense_variant,p.Glu833Asp,ENST00000629359,;MAGI2,missense_variant,p.Glu872Asp,ENST00000628980,;MAGI2,missense_variant,p.Glu858Asp,ENST00000535697,;MAGI2,missense_variant,p.Glu1010Asp,ENST00000522391,;MAGI2,missense_variant,p.Glu847Asp,ENST00000626691,;MAGI2,missense_variant,p.Glu603Asp,ENST00000519748,;MAGI2,missense_variant,p.Glu603Asp,ENST00000637282,;MAGI2,missense_variant,p.Glu700Asp,ENST00000636178,;MAGI2,intron_variant,,ENST00000637441,;RP4-587D13.1,downstream_gene_variant,,ENST00000627965,;MAGI2,splice_region_variant,,ENST00000637486,;	G	ENST00000354212	Transcript	missense_variant,splice_region_variant	3284/6880	3030/4368	1010/1455	E/D	gaG/gaC		1		-1	MAGI2	HGNC	HGNC:18957	protein_coding	YES	CCDS5594.1	ENSP00000346151	Q86UL8		UPI00001615D2	NM_012301.3	tolerated(0.75)		17/22		PROSITE_profiles:PS50106,hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF27,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	25	78135022	78135022	C	G	1	0	0	0	0	1	0	0	0	9109	695	24	4		4	MAGI2	7	78135022	Missense_Mutation	SNP	C	C3L-01682_TP	4821823	78135022	81210951	49	7853											
SEMA3E	0	.	GRCh38	chr7	83400129	83400129	+	Missense_Mutation	SNP	G	G	T																															catctgtttttaccaatattGgttttttatgggcaggtttt																								novel		C3L-01682_TP	C3L-01682_NB	G	G																c.1265C>A	p.Pro422Gln	p.P422Q	ENST00000307792	11/17	498	458	40	520	515	5	strelka-varscan-mutect	SEMA3E,missense_variant,p.Pro422Gln,ENST00000307792,NM_012431.2;SEMA3E,missense_variant,p.Pro362Gln,ENST00000427262,NM_001178129.1;	T	ENST00000307792	Transcript	missense_variant	1733/6476	1265/2328	422/775	P/Q	cCa/cAa		1		-1	SEMA3E	HGNC	HGNC:10727	protein_coding	YES	CCDS34674.1	ENSP00000303212	O15041		UPI0000135A68	NM_012431.2	deleterious(0)		11/17		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	83400129	83400129	G	T	1	0	0	0	0	1	0	0	0	14304	1348	47	2		2	SEMA3E	7	83400129	Missense_Mutation	SNP	G	C3L-01682_TP	5265107	83400129	75945844	50	7854	180	2									
SEMA3E	0	.	GRCh38	chr7	83400130	83400130	+	Missense_Mutation	SNP	G	G	T																															atctgtttttaccaatattgGttttttatgggcaggtttta																								rs762609959		C3L-01682_TP	C3L-01682_NB	G	G																c.1264C>A	p.Pro422Thr	p.P422T	ENST00000307792	11/17	509	464	45	529	529	0	strelka-varscan-mutect	SEMA3E,missense_variant,p.Pro422Thr,ENST00000307792,NM_012431.2;SEMA3E,missense_variant,p.Pro362Thr,ENST00000427262,NM_001178129.1;	T	ENST00000307792	Transcript	missense_variant	1732/6476	1264/2328	422/775	P/T	Cca/Aca	rs762609959	1		-1	SEMA3E	HGNC	HGNC:10727	protein_coding	YES	CCDS34674.1	ENSP00000303212	O15041		UPI0000135A68	NM_012431.2	deleterious(0)		11/17		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		rs762609959	.												T	3	4	25	83400130	83400130	G	T	1	0	0	0	0	1	0	0	0	14304	1261	44	2		2	SEMA3E	7	83400130	Missense_Mutation	SNP	G	C3L-01682_TP	1	83400130	75945843	51	7855	180	2									
SEMA3A	0	.	GRCh38	chr7	83961670	83961670	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttatgaagaagttcttccaAatgctctgtgtcaatgactt	11	16	7	7	0	3	3	1	2	2	1	4	3	4	3	1	0	1	2	1	0	5	5	rs750951156		C3L-01682_TP	C3L-01682_NB	A	A																c.2017T>G	p.Leu673Val	p.L673V	ENST00000265362	17/17	149	138	11	152	152	0	strelka-varscan-mutect	SEMA3A,missense_variant,p.Leu673Val,ENST00000265362,NM_006080.2;SEMA3A,missense_variant,p.Leu673Val,ENST00000436949,;	C	ENST00000265362	Transcript	missense_variant	2332/8225	2017/2316	673/771	L/V	Ttg/Gtg	rs750951156	1		-1	SEMA3A	HGNC	HGNC:10723	protein_coding	YES	CCDS5599.1	ENSP00000265362	Q14563		UPI0000135A60	NM_006080.2	tolerated(0.87)		17/17		hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF23																	MODERATE	1	SNV	1			1										PASS		rs750951156	.												C	3	2	25	83961670	83961670	A	C	1	0	0	0	0	1	0	0	0	14300	11	1	5		5	SEMA3A	7	83961670	Missense_Mutation	SNP	A	C3L-01682_TP	561540	83961670	75384303	52	7856											
FBXL13	0	.	GRCh38	chr7	102963631	102963631	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtagacactatatatttaTctggaatcacatttttcact	14	16	4	7	0	3	1	2	0	1	1	3	2	3	2	0	1	0	1	0	1	7	8	novel		C3L-01682_TP	C3L-01682_NB	T	T																c.626A>T	p.Asp209Val	p.D209V	ENST00000313221	8/20	254	228	26	269	269	0	strelka-varscan-mutect	FBXL13,missense_variant,p.Asp209Val,ENST00000313221,NM_145032.3;FBXL13,missense_variant,p.Asp299Val,ENST00000379308,;FBXL13,missense_variant,p.Asp209Val,ENST00000436908,;FBXL13,missense_variant,p.Asp209Val,ENST00000379305,NM_001287150.1;FBXL13,missense_variant,p.Asp209Val,ENST00000455112,NM_001111038.1;FBXL13,missense_variant,p.Asp209Val,ENST00000456695,;FBXL13,non_coding_transcript_exon_variant,,ENST00000471074,;FBXL13,non_coding_transcript_exon_variant,,ENST00000477915,;FBXL13,missense_variant,p.Asp299Val,ENST00000448002,;	A	ENST00000313221	Transcript	missense_variant	1053/2744	626/2208	209/735	D/V	gAt/gTt		1		-1	FBXL13	HGNC	HGNC:21658	protein_coding	YES	CCDS5726.1	ENSP00000321927	Q8NEE6		UPI000020F830	NM_145032.3	deleterious(0)		8/20		Gene3D:3.80.10.10,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF485,Superfamily_domains:SSF52047																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	25	102963631	102963631	T	A	1	0	0	0	0	1	0	0	0	5573	1435	50	4		4	FBXL13	7	102963631	Missense_Mutation	SNP	T	C3L-01682_TP	19001961	102963631	56382342	53	7857											
TRIM35	0	.	GRCh38	chr8	27287616	27287616	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaaggctctggaggcccGgcgccccgtgcaccccccag	6	3	13	19	4	1	0	0	0	1	0	1	1	1	1	6	4	1	3	6	4	1	0	rs117847001		C3L-01682_TP	C3L-01682_NB	G	G																c.1416C>T	p.=	p.A472A	ENST00000305364	6/6	163	140	23	192	191	1	strelka-mutect	TRIM35,synonymous_variant,p.=,ENST00000305364,NM_171982.4;TRIM35,intron_variant,,ENST00000521283,;TRIM35,downstream_gene_variant,,ENST00000521253,NM_001304495.1;	A	ENST00000305364	Transcript	synonymous_variant	1500/4229	1416/1482	472/493	A	gcC/gcT	rs117847001	1		-1	TRIM35	HGNC	HGNC:16285	protein_coding	YES	CCDS6056.2	ENSP00000301924	Q9UPQ4		UPI00001649FB	NM_171982.4			6/6		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF404,hmmpanther:PTHR24103,SMART_domains:SM00449,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		rs117847001	.												A	2	1	25	27287616	27287616	G	A	1	0	0	0	0	0	0	0	1	16998	1103	39	1		1	TRIM35	8	27287616	Silent	SNP	G	C3L-01682_TP		27287616	117851020	54	7858											
KIAA1429	0	.	GRCh38	chr8	94529261	94529261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagaatattgcccttccTggggaacagaattccgatca	12	10	8	11	1	2	2	2	0	0	2	4	4	4	3	3	2	2	0	3	2	4	4	novel		C3L-01682_TP	C3L-01682_NB	T	T																c.689A>G	p.Gln230Arg	p.Q230R	ENST00000297591	7/24	270	254	16	303	303	0	strelka-varscan-mutect	KIAA1429,missense_variant,p.Gln230Arg,ENST00000297591,NM_015496.4;KIAA1429,missense_variant,p.Gln230Arg,ENST00000421249,NM_183009.2;RP11-267M23.3,upstream_gene_variant,,ENST00000521010,;KIAA1429,non_coding_transcript_exon_variant,,ENST00000519001,;KIAA1429,upstream_gene_variant,,ENST00000522263,;	C	ENST00000297591	Transcript	missense_variant	765/6528	689/5439	230/1812	Q/R	cAg/cGg		1		-1	KIAA1429	HGNC	HGNC:24500	protein_coding	YES	CCDS34923.1	ENSP00000297591	Q69YN4		UPI00001BBB23	NM_015496.4	tolerated(0.27)		7/24		Pfam_domain:PF15912,hmmpanther:PTHR23185																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	25	94529261	94529261	T	C	1	0	0	0	0	1	0	0	0	8114	1580	55	5		5	KIAA1429	8	94529261	Missense_Mutation	SNP	T	C3L-01682_TP	67241645	94529261	50609375	55	7859											
DCSTAMP	0	.	GRCh38	chr8	104349018	104349018	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggatttatggccttgccActccactaagtgtatttgat	9	15	9	8	0	0	1	0	1	0	0	1	2	1	2	3	2	1	1	3	2	3	6	novel		C3L-01682_TP	C3L-01682_NB	A	A																c.466A>G	p.Thr156Ala	p.T156A	ENST00000297581	2/4	283	268	15	317	316	1	strelka-varscan	DCSTAMP,missense_variant,p.Thr156Ala,ENST00000297581,NM_030788.3;DCSTAMP,missense_variant,p.Thr156Ala,ENST00000622554,NM_001257317.1;DCSTAMP,missense_variant,p.Thr156Ala,ENST00000517991,;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,downstream_gene_variant,,ENST00000518023,;DCSTAMP,upstream_gene_variant,,ENST00000518051,;DCSTAMP,downstream_gene_variant,,ENST00000517364,;DCSTAMP,downstream_gene_variant,,ENST00000519562,;	G	ENST00000297581	Transcript	missense_variant	515/1953	466/1413	156/470	T/A	Act/Gct		1		1	DCSTAMP	HGNC	HGNC:18549	protein_coding	YES	CCDS6301.1	ENSP00000297581	Q9H295		UPI000003BCB5	NM_030788.3	tolerated(0.25)		2/4		hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	25	104349018	104349018	A	G	1	0	0	0	0	1	0	0	0	4106	159	6	5		5	DCSTAMP	8	104349018	Missense_Mutation	SNP	A	C3L-01682_TP	9819757	104349018	40789618	56	7860											
TMEM74	0	.	GRCh38	chr8	108784356	108784356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatggacatcattaacaagCaggacaggatgacgcccccc	14	5	9	13	1	1	1	1	1	0	0	1	4	1	4	3	3	2	1	3	3	2	1	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.743G>A	p.Cys248Tyr	p.C248Y	ENST00000297459	2/2	217	191	26	210	210	0	strelka-varscan-mutect	TMEM74,missense_variant,p.Cys248Tyr,ENST00000297459,NM_153015.1;TMEM74,intron_variant,,ENST00000518838,;	T	ENST00000297459	Transcript	missense_variant	922/1741	743/918	248/305	C/Y	tGc/tAc		1		-1	TMEM74	HGNC	HGNC:26409	protein_coding	YES	CCDS6310.1	ENSP00000297459	Q96NL1	A0A024R9D4	UPI000006E80B	NM_153015.1	deleterious(0.01)		2/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR16125,hmmpanther:PTHR16125:SF3,Pfam_domain:PF14927																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	108784356	108784356	C	T	1	0	0	0	0	1	0	0	0	16677	710	25	3		3	TMEM74	8	108784356	Missense_Mutation	SNP	C	C3L-01682_TP	4435338	108784356	36354280	57	7861											
SAXO1	0	.	GRCh38	chr9	18928698	18928698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtctagcccaggaggcCtggctagaggtttcaagctc	8	9	13	11	0	2	1	1	0	1	1	3	2	2	2	2	4	2	4	2	4	3	3	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.779G>T	p.Arg260Met	p.R260M	ENST00000380534	4/4	339	316	23	385	384	1	strelka-varscan-mutect	SAXO1,missense_variant,p.Arg260Met,ENST00000380534,NM_153707.3;SAXO1,missense_variant,p.Arg195Met,ENST00000542071,NM_001287049.1;SAXO1,3_prime_UTR_variant,,ENST00000380530,NM_001287050.1;	A	ENST00000380534	Transcript	missense_variant	1059/2099	779/1425	260/474	R/M	aGg/aTg		1		-1	SAXO1	HGNC	HGNC:28566	protein_coding	YES	CCDS6487.1	ENSP00000369907	Q8IYX7		UPI0000367609	NM_153707.3	tolerated(0.07)		4/4		hmmpanther:PTHR31516,hmmpanther:PTHR31516:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	25	18928698	18928698	C	A	1	0	0	0	0	1	0	0	0	14118	681	24	2		2	SAXO1	9	18928698	Missense_Mutation	SNP	C	C3L-01682_TP		18928698	119466019	58	7862											
PRRC2B	0	.	GRCh38	chr9	131477833	131477833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctggagcgggcagcccatgCcagtgctgaccttcccgaag	7	6	13	15	2	0	1	0	1	0	0	1	3	1	2	5	2	4	2	5	2	1	1	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.4496C>T	p.Ala1499Val	p.A1499V	ENST00000357304	16/31	214	203	11	244	244	0	strelka-varscan-mutect	PRRC2B,missense_variant,p.Ala1499Val,ENST00000357304,NM_013318.3;PRRC2B,missense_variant,p.Ala805Val,ENST00000405995,;PRRC2B,missense_variant,p.Ala233Val,ENST00000451855,;PRRC2B,downstream_gene_variant,,ENST00000456307,;	T	ENST00000357304	Transcript	missense_variant	4551/11042	4496/6690	1499/2229	A/V	gCc/gTc		1		1	PRRC2B	HGNC	HGNC:28121	protein_coding	YES	CCDS48044.1	ENSP00000349856	Q5JSZ5		UPI00002374A3	NM_013318.3	tolerated(0.28)		16/31		hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	25	131477833	131477833	C	T	1	0	0	0	0	1	0	0	0	12749	739	26	3		3	PRRC2B	9	131477833	Missense_Mutation	SNP	C	C3L-01682_TP	112549135	131477833	6916884	59	7863											
COL5A1	0	.	GRCh38	chr9	134730282	134730282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccatgcctgaaaccaGtgaaggggctgggaaggaag	11	6	15	9	0	0	2	0	2	0	0	1	4	1	4	3	4	3	2	3	4	4	0	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.971G>T	p.Ser324Ile	p.S324I	ENST00000371817	7/66	564	524	40	564	564	0	strelka-varscan-mutect	COL5A1,missense_variant,p.Ser324Ile,ENST00000371817,NM_000093.4;COL5A1,missense_variant,p.Ser324Ile,ENST00000618395,NM_001278074.1;COL5A1,upstream_gene_variant,,ENST00000469093,;	T	ENST00000371817	Transcript	missense_variant	1385/8471	971/5517	324/1838	S/I	aGt/aTt		1		1	COL5A1	HGNC	HGNC:2209	protein_coding	YES	CCDS6982.1	ENSP00000360882	P20908	A0A024R8E5	UPI0000210EE3	NM_000093.4	tolerated(0.19)		7/66																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	134730282	134730282	G	T	1	0	0	0	0	1	0	0	0	3485	1029	36	2		2	COL5A1	9	134730282	Missense_Mutation	SNP	G	C3L-01682_TP	3252449	134730282	3664435	60	7864											
COL5A1	0	.	GRCh38	chr9	134812668	134812668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgctgatggcccacaaGgtcccccaggtggaatagga	10	6	14	11	0	0	1	0	1	0	0	1	3	1	3	3	6	1	1	3	6	3	1	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.3808G>T	p.Gly1270Cys	p.G1270C	ENST00000371817	48/66	478	446	32	495	494	1	strelka-varscan-mutect	COL5A1,missense_variant,p.Gly1270Cys,ENST00000371817,NM_000093.4;COL5A1,missense_variant,p.Gly1270Cys,ENST00000618395,NM_001278074.1;COL5A1,downstream_gene_variant,,ENST00000463925,;	T	ENST00000371817	Transcript	missense_variant	4222/8471	3808/5517	1270/1838	G/C	Ggt/Tgt		1		1	COL5A1	HGNC	HGNC:2209	protein_coding	YES	CCDS6982.1	ENSP00000360882	P20908	A0A024R8E5	UPI0000210EE3	NM_000093.4	deleterious(0)		48/66		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF387,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	134812668	134812668	G	T	1	0	0	0	0	1	0	0	0	3485	1000	35	2		2	COL5A1	9	134812668	Missense_Mutation	SNP	G	C3L-01682_TP	82386	134812668	3582049	61	7865											
LRRC18	0	.	GRCh38	chr10	48913750	48913750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccagtgtggtgggcaCgctgtccaggtggttcaagc	5	8	16	12	1	1	0	1	0	0	0	2	0	2	0	3	5	1	3	3	5	1	1	rs138127999		C3L-01682_TP	C3L-01682_NB	C	C																c.406G>A	p.Val136Met	p.V136M	ENST00000374160	1/2	126	101	25	127	127	0	strelka-varscan-mutect	LRRC18,missense_variant,p.Val136Met,ENST00000374160,NM_001006939.3;WDFY4,intron_variant,,ENST00000325239,NM_020945.1;WDFY4,intron_variant,,ENST00000265453,;RP11-523O18.7,intron_variant,,ENST00000430438,;	T	ENST00000374160	Transcript	missense_variant	483/1617	406/786	136/261	V/M	Gtg/Atg	rs138127999,COSM2144922	1		-1	LRRC18	HGNC	HGNC:23199	protein_coding	YES	CCDS31197.1	ENSP00000363275	Q8N456		UPI00001F98A9	NM_001006939.3	deleterious(0.01)		1/2		PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF593,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs138127999	.												T	3	4	25	48913750	48913750	C	T	1	0	0	0	0	1	0	0	0	8869	536	19	1		1	LRRC18	10	48913750	Missense_Mutation	SNP	C	C3L-01682_TP		48913750	84883672	62	7866											
SLC18A3	0	.	GRCh38	chr10	49611148	49611148	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaaggctatcctgcagctGctagtgaaccccttgagcgg	8	9	11	13	1	0	2	0	2	0	0	2	2	2	2	4	2	5	4	4	2	4	3	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.408G>T	p.=	p.L136L	ENST00000374115	1/1	435	380	55	499	499	0	strelka-varscan-mutect	SLC18A3,synonymous_variant,p.=,ENST00000374115,NM_003055.2;CHAT,intron_variant,,ENST00000339797,NM_020984.3;CHAT,upstream_gene_variant,,ENST00000395562,NM_001142933.1;CHAT,upstream_gene_variant,,ENST00000337653,NM_020549.4;CHAT,upstream_gene_variant,,ENST00000351556,NM_020985.3,NM_001142934.1,NM_001142929.1;CHAT,upstream_gene_variant,,ENST00000395559,NM_020986.3;CHAT,upstream_gene_variant,,ENST00000460699,;CHAT,upstream_gene_variant,,ENST00000490270,;CHAT,upstream_gene_variant,,ENST00000481336,;CHAT,upstream_gene_variant,,ENST00000466590,;	T	ENST00000374115	Transcript	synonymous_variant	848/2420	408/1599	136/532	L	ctG/ctT		1		1	SLC18A3	HGNC	HGNC:10936	protein_coding	YES	CCDS7231.1	ENSP00000363229	Q16572		UPI00001F98C1	NM_003055.2			1/1		PROSITE_profiles:PS50850,hmmpanther:PTHR23506,hmmpanther:PTHR23506:SF13,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	LOW		SNV				1										PASS		rs1311479958	.												T	2	4	25	49611148	49611148	G	T	1	0	0	0	0	0	0	0	1	14692	1306	46	2		2	SLC18A3	10	49611148	Silent	SNP	G	C3L-01682_TP	697398	49611148	84186274	63	7867											
ANK3	0	.	GRCh38	chr10	60075103	60075103	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttcaggttggaatggcttCtcctcaggcacatctgtctg	7	13	11	10	0	5	0	2	0	3	0	6	1	5	1	1	4	0	4	1	4	1	3	rs771306574		C3L-01682_TP	C3L-01682_NB	C	C																c.5778G>A	p.=	p.E1926E	ENST00000280772	37/44	371	327	44	403	403	0	strelka-varscan-mutect	ANK3,synonymous_variant,p.=,ENST00000280772,NM_020987.3;ANK3,synonymous_variant,p.=,ENST00000610321,;ANK3,intron_variant,,ENST00000373827,NM_001204403.1;ANK3,intron_variant,,ENST00000503366,NM_001204404.1;ANK3,intron_variant,,ENST00000355288,NM_001149.3;ANK3,intron_variant,,ENST00000616444,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000511043,;ANK3,upstream_gene_variant,,ENST00000610901,;ANK3,upstream_gene_variant,,ENST00000613207,;ANK3,upstream_gene_variant,,ENST00000621739,;	T	ENST00000280772	Transcript	synonymous_variant	5970/16874	5778/13134	1926/4377	E	gaG/gaA	rs771306574	1		-1	ANK3	HGNC	HGNC:494	protein_coding	YES	CCDS7258.1	ENSP00000280772	Q12955		UPI0000141BA9	NM_020987.3			37/44		hmmpanther:PTHR24123:SF22,hmmpanther:PTHR24123																	LOW	1	SNV	1			1										PASS		rs771306574	.												T	2	4	25	60075103	60075103	C	T	1	0	0	0	0	0	0	0	1	722	912	32	3		3	ANK3	10	60075103	Silent	SNP	C	C3L-01682_TP	10463955	60075103	73722319	64	7868											
NOC3L	0	.	GRCh38	chr10	94346465	94346465	+	Frame_Shift_Del	DEL	A	A	-																															gagattttctcttttctttgAaagtcataaatttttttggt																								novel		C3L-01682_TP	C3L-01682_NB	A	A																c.1349delT	p.Phe450SerfsTer22	p.F450Sfs*22	ENST00000371361	11/21	122	110	12	152	151	1	varindel-pindel	NOC3L,frameshift_variant,p.Phe450SerfsTer22,ENST00000371361,NM_022451.10;NOC3L,downstream_gene_variant,,ENST00000463649,;	-	ENST00000371361	Transcript	frameshift_variant	1450/3455	1349/2403	450/800	F/X	tTc/tc		1		-1	NOC3L	HGNC	HGNC:24034	protein_coding	YES	CCDS7433.1	ENSP00000360412	Q8WTT2		UPI000006DE09	NM_022451.10			11/21		hmmpanther:PTHR14428,hmmpanther:PTHR14428:SF5,PIRSF_domain:PIRSF028977																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	25	94346465	94346465	A	-	1	0	1	0	1	0	0	0	0	10556	246	9	0		0	NOC3L	10	94346465	Frame_Shift_Del	DEL	A	C3L-01682_TP	34271362	94346465	39450957	65	7869											
XPNPEP1	0	.	GRCh38	chr10	109877857	109877857	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcaggtccacaaagtCtgcctgttgcctgtaacaga	11	9	10	11	0	2	1	1	0	1	1	3	2	3	1	3	1	4	3	3	1	3	2			C3L-01682_TP	C3L-01682_NB	C	C																c.1252G>T	p.Asp418Tyr	p.D418Y	ENST00000502935	14/21	445	394	51	417	415	2	strelka-varscan-mutect	XPNPEP1,missense_variant,p.Asp418Tyr,ENST00000502935,NM_001324132.1,NM_020383.3;XPNPEP1,missense_variant,p.Asp418Tyr,ENST00000322238,NM_001167604.1;XPNPEP1,missense_variant,p.Asp304Tyr,ENST00000369683,NM_001324128.1;XPNPEP1,downstream_gene_variant,,ENST00000403138,;XPNPEP1,downstream_gene_variant,,ENST00000423625,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000494564,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000510988,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000460055,;XPNPEP1,downstream_gene_variant,,ENST00000430337,;XPNPEP1,downstream_gene_variant,,ENST00000460523,;XPNPEP1,downstream_gene_variant,,ENST00000443078,;XPNPEP1,downstream_gene_variant,,ENST00000507328,;XPNPEP1,downstream_gene_variant,,ENST00000508059,;XPNPEP1,downstream_gene_variant,,ENST00000509646,;XPNPEP1,downstream_gene_variant,,ENST00000512582,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000488118,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000513817,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000472336,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000508525,;XPNPEP1,upstream_gene_variant,,ENST00000369658,;	A	ENST00000502935	Transcript	missense_variant	1372/2539	1252/2001	418/666	D/Y	Gac/Tac	COSM348181	1		-1	XPNPEP1	HGNC	HGNC:12822	protein_coding	YES	CCDS7560.2	ENSP00000421566	Q9NQW7		UPI00003D2EAD	NM_001324132.1,NM_020383.3	tolerated(0.56)		14/21		hmmpanther:PTHR10804:SF87,hmmpanther:PTHR10804,Pfam_domain:PF00557,Gene3D:3.90.230.10,Superfamily_domains:SSF55920											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	25	109877857	109877857	C	A	1	0	0	0	0	1	0	0	0	18001	913	32	2		2	XPNPEP1	10	109877857	Missense_Mutation	SNP	C	C3L-01682_TP	15531392	109877857	23919565	66	7870											
EPS8L2	0	.	GRCh38	chr11	721988	721988	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaagctggcgattaacttGctggtgggtccggtggcccc	6	10	14	11	2	1	0	1	0	0	0	2	1	2	0	3	5	3	2	3	5	2	2	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.981G>A	p.=	p.L327L	ENST00000533256	12/22	113	104	9	160	160	0	strelka-varscan-mutect	EPS8L2,synonymous_variant,p.=,ENST00000533256,;EPS8L2,synonymous_variant,p.=,ENST00000614442,;EPS8L2,synonymous_variant,p.=,ENST00000318562,NM_022772.3;EPS8L2,synonymous_variant,p.=,ENST00000530636,;EPS8L2,synonymous_variant,p.=,ENST00000526198,;EPS8L2,5_prime_UTR_variant,,ENST00000610855,;EPS8L2,downstream_gene_variant,,ENST00000533500,;EPS8L2,downstream_gene_variant,,ENST00000531348,;EPS8L2,downstream_gene_variant,,ENST00000524763,;EPS8L2,downstream_gene_variant,,ENST00000534755,;AP006621.9,intron_variant,,ENST00000527021,;EPS8L2,upstream_gene_variant,,ENST00000534449,;EPS8L2,upstream_gene_variant,,ENST00000524973,;EPS8L2,3_prime_UTR_variant,,ENST00000526909,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000531393,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000529346,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000524474,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000526651,;EPS8L2,non_coding_transcript_exon_variant,,ENST00000533816,;EPS8L2,intron_variant,,ENST00000528770,;EPS8L2,intron_variant,,ENST00000530452,;EPS8L2,upstream_gene_variant,,ENST00000527832,;EPS8L2,downstream_gene_variant,,ENST00000527807,;EPS8L2,upstream_gene_variant,,ENST00000534679,;EPS8L2,downstream_gene_variant,,ENST00000530118,;EPS8L2,downstream_gene_variant,,ENST00000531471,;EPS8L2,downstream_gene_variant,,ENST00000532545,;EPS8L2,upstream_gene_variant,,ENST00000534027,;	A	ENST00000533256	Transcript	synonymous_variant	1356/3266	981/2148	327/715	L	ttG/ttA		1		1	EPS8L2	HGNC	HGNC:21296	protein_coding	YES	CCDS31328.1	ENSP00000435585	Q9H6S3		UPI000006226C				12/22		Low_complexity_(Seg):seg,hmmpanther:PTHR12287:SF20,hmmpanther:PTHR12287																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	25	721988	721988	G	A	1	0	0	0	0	0	0	0	1	5044	1333	46	3		3	EPS8L2	11	721988	Silent	SNP	G	C3L-01682_TP		721988	134364634	67	7871											
MRGPRX3	0	.	GRCh38	chr11	18137233	18137233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcccagtcttgggtacaGaactgacaccaatcaacgga	13	7	8	13	1	2	2	1	1	1	1	3	3	3	3	3	2	3	1	3	2	4	2	rs201566518		C3L-01682_TP	C3L-01682_NB	G	G																c.31G>A	p.Glu11Lys	p.E11K	ENST00000396275	3/3	81	76	5	66	66	0	varscan-mutect	MRGPRX3,missense_variant,p.Glu11Lys,ENST00000396275,NM_054031.3;MRGPRX3,missense_variant,p.Glu11Lys,ENST00000621697,;MRGPRX3,missense_variant,p.Glu11Lys,ENST00000531264,;RP11-113D6.6,downstream_gene_variant,,ENST00000527671,;	A	ENST00000396275	Transcript	missense_variant	392/1639	31/969	11/322	E/K	Gaa/Aaa	rs201566518,COSM5482844	1		1	MRGPRX3	HGNC	HGNC:17980	protein_coding	YES	CCDS7830.1	ENSP00000379571	Q96LB0		UPI0000061FCF	NM_054031.3	tolerated(0.1)		3/3		hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF34											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201566518	.												A	3	1	25	18137233	18137233	G	A	1	0	0	0	0	1	0	0	0	9735	943	33	3		3	MRGPRX3	11	18137233	Missense_Mutation	SNP	G	C3L-01682_TP	17415245	18137233	116949389	68	7872											
SLC5A12	0	.	GRCh38	chr11	26686523	26686523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccacagccatagaggtaCacatcacgccaaataagaga	17	4	8	12	1	1	2	1	0	0	2	1	3	1	2	3	1	3	1	3	1	4	3	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.1175G>A	p.Cys392Tyr	p.C392Y	ENST00000396005	10/15	220	208	12	226	222	4	varscan-mutect	SLC5A12,missense_variant,p.Cys392Tyr,ENST00000396005,NM_178498.3;SLC5A12,synonymous_variant,p.=,ENST00000527405,;	T	ENST00000396005	Transcript	missense_variant	1485/6250	1175/1857	392/618	C/Y	tGt/tAt		1		-1	SLC5A12	HGNC	HGNC:28750	protein_coding	YES	CCDS7860.2	ENSP00000379326	Q1EHB4		UPI000003ED2C	NM_178498.3	deleterious(0)		10/15		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF152,Pfam_domain:PF00474,TIGRFAM_domain:TIGR00813																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	26686523	26686523	C	T	1	0	0	0	0	1	0	0	0	14947	478	17	3		3	SLC5A12	11	26686523	Missense_Mutation	SNP	C	C3L-01682_TP	8549290	26686523	108400099	69	7873											
RAG1	0	.	GRCh38	chr11	36573835	36573835	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccccactgagttctgccaTaactgctggagcatcatgca	10	9	8	14	0	2	1	1	1	1	0	2	2	2	2	3	1	5	4	3	1	1	2	novel		C3L-01682_TP	C3L-01682_NB	T	T																c.531T>C	p.=	p.H177H	ENST00000299440	2/2	526	495	31	516	516	0	strelka-varscan-mutect	RAG1,synonymous_variant,p.=,ENST00000299440,NM_000448.2;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,synonymous_variant,p.=,ENST00000534663,;	C	ENST00000299440	Transcript	synonymous_variant	643/6564	531/3132	177/1043	H	caT/caC		1		1	RAG1	HGNC	HGNC:9831	protein_coding	YES	CCDS7902.1	ENSP00000299440	P15918		UPI000013E5A0	NM_000448.2			2/2		Pfam_domain:PF12560,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	25	36573835	36573835	T	C	1	0	0	0	0	0	0	0	1	13164	1403	49	5		5	RAG1	11	36573835	Silent	SNP	T	C3L-01682_TP	9887312	36573835	98512787	70	7874											
DDB1	0	.	GRCh38	chr11	61304030	61304030	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgttgtccactcatagagCcgcacctgggaagggcattg	8	10	12	11	1	2	1	1	0	1	1	3	2	3	2	3	2	1	3	3	2	2	3	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.2667G>T	p.=	p.R889R	ENST00000301764	22/27	155	147	8	175	175	0	strelka-varscan-mutect	DDB1,synonymous_variant,p.=,ENST00000301764,NM_001923.4;DDB1,synonymous_variant,p.=,ENST00000540166,;DDB1,non_coding_transcript_exon_variant,,ENST00000539332,;DDB1,upstream_gene_variant,,ENST00000545894,;DDB1,upstream_gene_variant,,ENST00000451943,;DDB1,upstream_gene_variant,,ENST00000538470,;	A	ENST00000301764	Transcript	synonymous_variant	3065/4506	2667/3423	889/1140	R	cgG/cgT		1		-1	DDB1	HGNC	HGNC:2717	protein_coding	YES	CCDS31576.1	ENSP00000301764	Q16531		UPI0000000CB7	NM_001923.4			22/27		hmmpanther:PTHR10644,Pfam_domain:PF03178,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		rs1159285940	.												A	2	1	25	61304030	61304030	C	A	1	0	0	0	0	0	0	0	1	4126	753	26	2		2	DDB1	11	61304030	Silent	SNP	C	C3L-01682_TP	24730195	61304030	73782592	71	7875											
CAPN5	0	.	GRCh38	chr11	77116262	77116262	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagtgagcaagagtgagcgGgagaagatgggtgtgaccgt	13	6	18	4	2	0	6	0	3	0	3	0	7	0	6	1	2	2	1	1	2	3	0	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.930G>T	p.=	p.R310R	ENST00000278559	7/13	365	335	30	347	347	0	strelka-varscan-mutect	CAPN5,synonymous_variant,p.=,ENST00000278559,NM_004055.4;CAPN5,synonymous_variant,p.=,ENST00000456580,;CAPN5,synonymous_variant,p.=,ENST00000529629,;CAPN5,intron_variant,,ENST00000531028,;CAPN5,upstream_gene_variant,,ENST00000527129,;CAPN5,downstream_gene_variant,,ENST00000533889,;	T	ENST00000278559	Transcript	synonymous_variant	1119/4397	930/1923	310/640	R	cgG/cgT		1		1	CAPN5	HGNC	HGNC:1482	protein_coding	YES	CCDS8248.1	ENSP00000278559	O15484	A0A140VKH4	UPI0000126E9F	NM_004055.4			7/13		PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF138,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	25	77116262	77116262	G	T	1	0	0	0	0	0	0	0	1	2323	1219	43	2		2	CAPN5	11	77116262	Silent	SNP	G	C3L-01682_TP	15812232	77116262	57970360	72	7876											
GRM5	0	.	GRCh38	chr11	88567624	88567624	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggcacaggcactcatgaAtctgggctttttggtacaga	9	11	12	9	0	2	2	1	1	1	1	2	2	2	2	0	4	1	4	0	4	2	3	novel		C3L-01682_TP	C3L-01682_NB	A	A																c.2059T>A	p.Phe687Ile	p.F687I	ENST00000305447	7/9	369	339	30	349	349	0	strelka-varscan-mutect	GRM5,missense_variant,p.Phe687Ile,ENST00000455756,NM_000842.4;GRM5,missense_variant,p.Phe687Ile,ENST00000305447,NM_001143831.2;GRM5,missense_variant,p.Phe687Ile,ENST00000305432,;	T	ENST00000305447	Transcript	missense_variant	2209/4571	2059/3639	687/1212	F/I	Ttc/Atc		1		-1	GRM5	HGNC	HGNC:4597	protein_coding	YES	CCDS44694.1	ENSP00000306138	P41594		UPI000012F081	NM_001143831.2	deleterious(0)		7/9		Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	88567624	88567624	A	T	1	0	0	0	0	1	0	0	0	6682	101	4	4		4	GRM5	11	88567624	Missense_Mutation	SNP	A	C3L-01682_TP	11451362	88567624	46518998	73	7877											
DDI1	0	.	GRCh38	chr11	104037908	104037908	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcagacttattttcttccTgagggagagttgcccttatg	8	14	10	9	1	1	3	0	1	1	2	2	4	2	3	2	1	1	2	2	1	2	6	novel		C3L-01682_TP	C3L-01682_NB	T	T																c.1086T>G	p.=	p.P362P	ENST00000302259	1/1	251	216	35	283	282	1	strelka-varscan-mutect	DDI1,synonymous_variant,p.=,ENST00000302259,NM_001001711.2;PDGFD,intron_variant,,ENST00000302251,NM_033135.3;PDGFD,intron_variant,,ENST00000393158,NM_025208.4;PDGFD,upstream_gene_variant,,ENST00000529268,;	G	ENST00000302259	Transcript	synonymous_variant	1329/2609	1086/1191	362/396	P	ccT/ccG		1		1	DDI1	HGNC	HGNC:18961	protein_coding	YES	CCDS31660.1	ENSP00000302805	Q8WTU0		UPI0000047AEA	NM_001001711.2			1/1		hmmpanther:PTHR12917,hmmpanther:PTHR12917:SF15																	LOW		SNV				1										PASS		.	.												G	2	3	25	104037908	104037908	T	G	1	0	0	0	0	0	0	0	1	4131	1567	55	5		5	DDI1	11	104037908	Silent	SNP	T	C3L-01682_TP	15470284	104037908	31048714	74	7878											
KRT75	0	.	GRCh38	chr12	52433076	52433076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaacatcctgcatgttcctCagttcagcttcaagcctgcc	9	11	6	15	0	3	0	3	0	0	0	5	0	5	0	4	0	5	4	4	0	2	3	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.675G>A	p.=	p.L225L	ENST00000252245	2/9	727	679	48	716	715	1	strelka-varscan-mutect	KRT75,synonymous_variant,p.=,ENST00000252245,NM_004693.2;RP11-1020M18.10,downstream_gene_variant,,ENST00000548135,;	T	ENST00000252245	Transcript	synonymous_variant	896/2324	675/1656	225/551	L	ctG/ctA		1		-1	KRT75	HGNC	HGNC:24431	protein_coding	YES	CCDS8827.1	ENSP00000252245	O95678		UPI000013CD4E	NM_004693.2			2/9		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,Prints_domain:PR01276,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF200,SMART_domains:SM01391,Superfamily_domains:SSF64593																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	25	52433076	52433076	C	T	1	0	0	0	0	0	0	0	1	8370	813	29	3		3	KRT75	12	52433076	Silent	SNP	C	C3L-01682_TP		52433076	80842233	75	7879											
EFNB2	0	.	GRCh38	chr13	106512708	106512708	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcaaccatataaactttaTaatattcatactggccaaca	17	13	2	9	0	2	0	2	0	0	0	2	0	2	0	2	1	4	0	2	1	10	9	novel		C3L-01682_TP	C3L-01682_NB	T	T																c.227A>G	p.Tyr76Cys	p.Y76C	ENST00000245323	2/5	265	249	16	257	257	0	strelka-varscan-mutect	EFNB2,missense_variant,p.Tyr76Cys,ENST00000245323,NM_004093.3;	C	ENST00000245323	Transcript	missense_variant	377/4461	227/1002	76/333	Y/C	tAt/tGt		1		-1	EFNB2	HGNC	HGNC:3227	protein_coding	YES	CCDS9507.1	ENSP00000245323	P52799		UPI0000129C9B	NM_004093.3	deleterious(0)		2/5		PROSITE_profiles:PS51551,hmmpanther:PTHR11304:SF18,hmmpanther:PTHR11304,Gene3D:2.60.40.420,Pfam_domain:PF00812,Superfamily_domains:SSF49503,Prints_domain:PR01347,PD002533																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	25	106512708	106512708	T	C	1	0	0	0	0	1	0	0	0	4792	1406	49	5		5	EFNB2	13	106512708	Missense_Mutation	SNP	T	C3L-01682_TP		106512708	7851620	76	7880											
SLC8A3	0	.	GRCh38	chr14	70167218	70167218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcactggtaagaacatGggtcaaagaagaccttggaa	15	6	12	8	0	1	3	1	0	0	3	1	4	1	4	2	4	1	2	2	4	5	2	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.1205C>T	p.Pro402Leu	p.P402L	ENST00000381269	2/8	295	250	45	321	320	1	strelka-varscan-mutect	SLC8A3,missense_variant,p.Pro402Leu,ENST00000381269,NM_183002.2;SLC8A3,missense_variant,p.Pro402Leu,ENST00000357887,NM_033262.4;SLC8A3,missense_variant,p.Pro402Leu,ENST00000356921,NM_182932.2;SLC8A3,missense_variant,p.Pro402Leu,ENST00000528359,;SLC8A3,missense_variant,p.Pro402Leu,ENST00000534137,NM_058240.3;SLC8A3,missense_variant,p.Pro402Leu,ENST00000494208,;	A	ENST00000381269	Transcript	missense_variant	1959/5268	1205/2784	402/927	P/L	cCa/cTa		1		-1	SLC8A3	HGNC	HGNC:11070	protein_coding	YES	CCDS35498.1	ENSP00000370669	P57103		UPI0000073C9A	NM_183002.2	deleterious(0)		2/8		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF7,Pfam_domain:PF03160,TIGRFAM_domain:TIGR00845,SMART_domains:SM00237,Superfamily_domains:SSF141072																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	25	70167218	70167218	G	A	1	0	0	0	0	1	0	0	0	14991	1348	47	3		3	SLC8A3	14	70167218	Missense_Mutation	SNP	G	C3L-01682_TP		70167218	36876500	77	7881											
GABRA5	0	.	GRCh38	chr15	26937289	26937289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaaccagtaccacctgatgGggcagacggtgggcactgag	10	6	15	10	1	0	4	0	3	0	1	0	4	0	4	3	4	2	3	3	4	2	1	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.685G>A	p.Gly229Arg	p.G229R	ENST00000335625	8/11	124	117	7	160	160	0	strelka-varscan-mutect	GABRA5,missense_variant,p.Gly229Arg,ENST00000335625,NM_000810.3;GABRA5,missense_variant,p.Gly229Arg,ENST00000400081,NM_001165037.1;GABRA5,missense_variant,p.Gly229Arg,ENST00000355395,;GABRB3,intron_variant,,ENST00000541819,;GABRA5,downstream_gene_variant,,ENST00000555182,;	A	ENST00000335625	Transcript	missense_variant	1573/3251	685/1389	229/462	G/R	Ggg/Agg		1		1	GABRA5	HGNC	HGNC:4079	protein_coding	YES	CCDS45194.1	ENSP00000335592	P31644		UPI000002D731	NM_000810.3	deleterious(0.01)		8/11		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	25	26937289	26937289	G	A	1	0	0	0	0	1	0	0	0	6035	1232	43	3		3	GABRA5	15	26937289	Missense_Mutation	SNP	G	C3L-01682_TP		26937289	75053900	78	7882											
PLCB2	0	.	GRCh38	chr15	40299177	40299178	+	Frame_Shift_Del	DEL	GG	GG	-																															ccgaggacagaggctcatgaGgaaactcttgtagacaggtt																								novel		C3L-01682_TP	C3L-01682_NB	GG	GG																c.633_634delCC	p.Leu212HisfsTer11	p.L212Hfs*11	ENST00000260402	8/32	150	142	8	176	176	0	varindel-pindel	PLCB2,frameshift_variant,p.Leu212HisfsTer11,ENST00000260402,NM_004573.2;PLCB2,frameshift_variant,p.Leu212HisfsTer11,ENST00000557821,NM_001284297.1;PLCB2,frameshift_variant,p.Leu212HisfsTer11,ENST00000456256,NM_001284298.1;PLCB2,downstream_gene_variant,,ENST00000543785,NM_001284299.1;PLCB2-AS1,upstream_gene_variant,,ENST00000559520,;PLCB2,non_coding_transcript_exon_variant,,ENST00000558588,;PLCB2,non_coding_transcript_exon_variant,,ENST00000560093,;PLCB2,downstream_gene_variant,,ENST00000559634,;PLCB2,upstream_gene_variant,,ENST00000558409,;	-	ENST00000260402	Transcript	frameshift_variant	883-884/4616	633-634/3558	211-212/1185	FL/FX	ttCCtc/tttc		1		-1	PLCB2	HGNC	HGNC:9055	protein_coding	YES	CCDS42020.1	ENSP00000260402	Q00722		UPI0000D79B75	NM_004573.2			8/32		hmmpanther:PTHR10336:SF10,hmmpanther:PTHR10336,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF47473																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	25	40299177	40299177	GG	-	1	0	1	0	1	0	0	0	0	12122	1000	35	0		0	PLCB2	15	40299177	Frame_Shift_Del	DEL	GG	C3L-01682_TP	13361888	40299177	61692012	79	7883											
MEFV	0	.	GRCh38	chr16	3243682	3243682	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaagcggtttctgcatccAgaatcacattaactgcaaag	13	10	9	9	1	2	1	1	0	1	1	3	1	3	1	1	2	4	4	1	2	4	3	novel		C3L-01682_TP	C3L-01682_NB	A	A																c.1805T>C	p.Leu602Pro	p.L602P	ENST00000219596	10/10	122	115	7	112	112	0	strelka-varscan-mutect	MEFV,missense_variant,p.Leu602Pro,ENST00000219596,NM_000243.2;MEFV,missense_variant,p.Leu422Pro,ENST00000339854,;MEFV,missense_variant,p.Leu391Pro,ENST00000536379,;MEFV,3_prime_UTR_variant,,ENST00000541159,NM_001198536.1;MEFV,3_prime_UTR_variant,,ENST00000542898,;MEFV,3_prime_UTR_variant,,ENST00000537682,;MEFV,3_prime_UTR_variant,,ENST00000538326,;MEFV,3_prime_UTR_variant,,ENST00000536980,;MEFV,3_prime_UTR_variant,,ENST00000570511,;MEFV,3_prime_UTR_variant,,ENST00000539145,;MEFV,3_prime_UTR_variant,,ENST00000576315,;MEFV,3_prime_UTR_variant,,ENST00000574583,;MEFV,3_prime_UTR_variant,,ENST00000572244,;MEFV,downstream_gene_variant,,ENST00000539154,;	G	ENST00000219596	Transcript	missense_variant	1845/3499	1805/2346	602/781	L/P	cTg/cCg		1		-1	MEFV	HGNC	HGNC:6998	protein_coding	YES	CCDS10498.1	ENSP00000219596	O15553		UPI000004C0CA	NM_000243.2	deleterious(0)		10/10		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,Pfam_domain:PF13765,SMART_domains:SM00589,Superfamily_domains:SSF49899,Prints_domain:PR01407																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	25	3243682	3243682	A	G	1	0	0	0	0	1	0	0	0	9399	188	7	5		5	MEFV	16	3243682	Missense_Mutation	SNP	A	C3L-01682_TP		3243682	87094663	80	7884											
KIAA0430	0	.	GRCh38	chr16	15608438	15608438	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttttgggaccgaaggagTttaacaaactgggcagctag	11	11	12	7	1	1	0	0	0	1	0	1	3	1	2	1	3	3	3	1	3	4	5	novel		C3L-01682_TP	C3L-01682_NB	T	T																c.4035A>G	p.=	p.K1345K	ENST00000396368	21/27	516	489	27	441	441	0	strelka-varscan-mutect	KIAA0430,synonymous_variant,p.=,ENST00000396368,NM_014647.3;KIAA0430,synonymous_variant,p.=,ENST00000540441,;KIAA0430,synonymous_variant,p.=,ENST00000551742,NM_001184998.1;KIAA0430,synonymous_variant,p.=,ENST00000548025,NM_001184999.1;C16orf45,intron_variant,,ENST00000565857,;KIAA0430,downstream_gene_variant,,ENST00000614811,;CTB-193M12.1,upstream_gene_variant,,ENST00000549756,;KIAA0430,upstream_gene_variant,,ENST00000547936,;KIAA0430,3_prime_UTR_variant,,ENST00000552553,;KIAA0430,downstream_gene_variant,,ENST00000552535,;	C	ENST00000396368	Transcript	synonymous_variant	4242/7743	4035/5229	1345/1742	K	aaA/aaG		1		-1	KIAA0430	HGNC	HGNC:29562	protein_coding	YES	CCDS10562.2	ENSP00000379654	Q9Y4F3		UPI00006881BC	NM_014647.3			21/27		Pfam_domain:PF12872,PROSITE_profiles:PS51644,hmmpanther:PTHR14379,hmmpanther:PTHR14379:SF3																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	25	15608438	15608438	T	C	1	0	0	0	0	0	0	0	1	8086	1722	60	5		5	KIAA0430	16	15608438	Silent	SNP	T	C3L-01682_TP	12364756	15608438	74729907	81	7885											
CBLN1	0	.	GRCh38	chr16	49279532	49279532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taggactccgttgctggcggCctcccgggtcacgtcctggt	3	10	14	14	4	1	0	1	0	0	0	4	1	4	1	4	5	1	2	4	5	1	2	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.454G>A	p.Ala152Thr	p.A152T	ENST00000219197	3/3	511	476	35	398	398	0	strelka-varscan-mutect	CBLN1,missense_variant,p.Ala152Thr,ENST00000219197,NM_004352.3;CBLN1,missense_variant,p.Ala152Thr,ENST00000536749,;CBLN1,3_prime_UTR_variant,,ENST00000564786,;	T	ENST00000219197	Transcript	missense_variant	820/2435	454/582	152/193	A/T	Gcc/Acc		1		-1	CBLN1	HGNC	HGNC:1543	protein_coding	YES	CCDS10736.1	ENSP00000219197	P23435		UPI0000127506	NM_004352.3	tolerated(0.37)		3/3		PROSITE_profiles:PS50871,hmmpanther:PTHR22923:SF5,hmmpanther:PTHR22923,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	49279532	49279532	C	T	1	0	0	0	0	1	0	0	0	2405	739	26	3		3	CBLN1	16	49279532	Missense_Mutation	SNP	C	C3L-01682_TP	33671094	49279532	41058813	82	7886											
PELP1	0	.	GRCh38	chr17	4672773	4672773	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagtcccactaggggcaaGgatggggtcctcatttgagc	8	8	16	9	0	1	1	1	1	0	0	3	3	3	3	2	6	1	1	2	6	2	2			C3L-01682_TP	C3L-01682_NB	G	G																c.2368C>G	p.Leu790Val	p.L790V	ENST00000572293	16/17	157	137	20	188	188	0	strelka-varscan-mutect	PELP1,missense_variant,p.Leu790Val,ENST00000572293,;PELP1,missense_variant,p.Leu790Val,ENST00000301396,NM_014389.2;PELP1,missense_variant,p.Leu593Val,ENST00000436683,NM_001278241.1;PELP1,missense_variant,p.Leu740Val,ENST00000574876,;PELP1,downstream_gene_variant,,ENST00000570571,;PELP1,downstream_gene_variant,,ENST00000570387,;PELP1,downstream_gene_variant,,ENST00000575101,;AC091153.4,upstream_gene_variant,,ENST00000441700,;AC091153.4,upstream_gene_variant,,ENST00000631268,;PELP1,3_prime_UTR_variant,,ENST00000575329,;PELP1,non_coding_transcript_exon_variant,,ENST00000573523,;PELP1,downstream_gene_variant,,ENST00000575534,;PELP1,downstream_gene_variant,,ENST00000573242,;PELP1,downstream_gene_variant,,ENST00000573506,;	C	ENST00000572293	Transcript	missense_variant	2432/5272	2368/3543	790/1180	L/V	Ctt/Gtt	COSM4579797,COSM4579798	1		-1	PELP1	HGNC	HGNC:30134	protein_coding	YES	CCDS58503.2	ENSP00000460300		C9JFV4	UPI0001AE6688		deleterious_low_confidence(0.01)		16/17		Prints_domain:PR01217											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1456100311	.												C	3	2	25	4672773	4672773	G	C	1	0	0	0	0	1	0	0	0	11813	1000	35	4		4	PELP1	17	4672773	Missense_Mutation	SNP	G	C3L-01682_TP		4672773	78584668	83	7887											
TP53	0	.	GRCh38	chr17	7675095	7675095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	6	9	14	12	2	2	0	2	0	0	0	3	0	3	0	3	3	3	2	3	3	1	0			C3L-01682_TP	C3L-01682_NB	C	C																c.517G>T	p.Val173Leu	p.V173L	ENST00000269305	5/11	424	357	67	417	417	0	strelka-varscan-mutect	TP53,missense_variant,p.Val173Leu,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Val173Leu,ENST00000420246,;TP53,missense_variant,p.Val134Leu,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Val134Leu,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Val173Leu,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Val134Leu,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Val173Leu,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Val134Leu,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Val173Leu,ENST00000445888,;TP53,missense_variant,p.Val134Leu,ENST00000619485,;TP53,missense_variant,p.Val41Leu,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Val14Leu,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Val41Leu,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Val14Leu,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Val41Leu,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Val14Leu,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Val173Leu,ENST00000359597,;TP53,missense_variant,p.Val162Leu,ENST00000615910,;TP53,missense_variant,p.Val173Leu,ENST00000413465,;TP53,missense_variant,p.Val41Leu,ENST00000509690,;TP53,missense_variant,p.Val80Leu,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,missense_variant,p.Val134Leu,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	707/2579	517/1182	173/393	V/L	Gtg/Ttg	CM070299,TP53_g.12505G>T,TP53_g.12505G>C,TP53_g.12505del,TP53_g.12505G>A,COSM11084,COSM121041,COSM121042,COSM121043,COSM121044,COSM121045,COSM1741210,COSM2744864,COSM3388205,COSM3723936,COSM3723937,COSM3970358,COSM43559,COSM43732,COSM44057,COSM98964,COSM98965,COSM98966,COSM99638,COSM99639,COSM99640,COSM99641	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		5/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386											0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs876660754	.												A	3	1	25	7675095	7675095	C	A	1	0	0	0	0	1	0	0	0	16859	478	17	2		2	TP53	17	7675095	Missense_Mutation	SNP	C	C3L-01682_TP	3002322	7675095	75582346	84	7888											
TRPV2	0	.	GRCh38	chr17	16426115	16426115	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagattttcaggcacatccTgcagcgggagttttcaggac	9	10	12	10	1	2	1	2	0	0	1	3	3	3	3	1	3	2	4	1	3	0	4	novel		C3L-01682_TP	C3L-01682_NB	T	T																c.941T>A	p.Leu314Gln	p.L314Q	ENST00000338560	6/15	105	91	14	132	132	0	strelka-varscan-mutect	TRPV2,missense_variant,p.Leu314Gln,ENST00000338560,NM_016113.4;TRPV2,downstream_gene_variant,,ENST00000455666,;TRPV2,upstream_gene_variant,,ENST00000577277,;TRPV2,upstream_gene_variant,,ENST00000583241,;AC093484.4,upstream_gene_variant,,ENST00000441875,;	A	ENST00000338560	Transcript	missense_variant	1340/2808	941/2295	314/764	L/Q	cTg/cAg		1		1	TRPV2	HGNC	HGNC:18082	protein_coding	YES	CCDS32576.1	ENSP00000342222	Q9Y5S1		UPI0000032F4E	NM_016113.4	deleterious(0)		6/15		PROSITE_profiles:PS50297,hmmpanther:PTHR10582:SF5,hmmpanther:PTHR10582,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	25	16426115	16426115	T	A	1	0	0	0	0	1	0	0	0	17102	1580	55	4		4	TRPV2	17	16426115	Missense_Mutation	SNP	T	C3L-01682_TP	8751020	16426115	66831326	85	7889											
GSDMA	0	.	GRCh38	chr17	39976879	39976879	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttttccccctgcaacctGagctgctctcctcccttggg	3	13	9	16	0	1	1	0	1	1	0	4	1	3	1	5	1	4	4	5	1	1	3	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.1159G>T	p.Glu387Ter	p.E387*	ENST00000301659	12/12	476	434	42	457	457	0	strelka-varscan-mutect	GSDMA,stop_gained,p.Glu387Ter,ENST00000301659,NM_178171.4;GSDMA,stop_gained,p.Glu387Ter,ENST00000635792,;PSMD3,upstream_gene_variant,,ENST00000264639,NM_002809.3;PSMD3,upstream_gene_variant,,ENST00000415039,;	T	ENST00000301659	Transcript	stop_gained	1277/2164	1159/1338	387/445	E/*	Gag/Tag		1		1	GSDMA	HGNC	HGNC:13311	protein_coding	YES	CCDS45669.1	ENSP00000301659	Q96QA5		UPI0000140D2A	NM_178171.4			12/12		hmmpanther:PTHR16399:SF18,hmmpanther:PTHR16399,Pfam_domain:PF04598																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	25	39976879	39976879	G	T	1	0	0	0	0	0	1	0	0	6698	1291	45	2		2	GSDMA	17	39976879	Nonsense_Mutation	SNP	G	C3L-01682_TP	23550764	39976879	43280562	86	7890											
KRTAP1-4	0	.	GRCh38	chr17	41029984	41029984	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccggttccgcaggagctgGtctggcagcagcttggctgg	5	8	17	11	2	1	0	0	0	1	0	2	1	2	1	2	6	4	7	2	6	0	2	rs748894240		C3L-01682_TP	C3L-01682_NB	G	G																c.95C>A	p.Thr32Asn	p.T32N	ENST00000377747	1/1	562	485	77	446	446	0	strelka-varscan-mutect	KRTAP1-4,missense_variant,p.Thr32Asn,ENST00000377747,NM_001257305.1;KRTAP1-5,upstream_gene_variant,,ENST00000361883,NM_031957.1;KRTAP1-3,downstream_gene_variant,,ENST00000344363,NM_030966.1;	T	ENST00000377747	Transcript	missense_variant	121/408	95/366	32/121	T/N	aCc/aAc	rs748894240,COSM4938892,COSM4938893	1		-1	KRTAP1-4	HGNC	HGNC:18904	protein_coding	YES	CCDS58548.1	ENSP00000366976	P0C5Y4		UPI0000198A7D	NM_001257305.1	tolerated(0.12)		1/1		Pfam_domain:PF01500,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF58,Low_complexity_(Seg):seg											0,1,1						MODERATE	1	SNV			0,1,1	1										PASS		rs748894240	.												T	3	4	25	41029984	41029984	G	T	1	0	0	0	0	1	0	0	0	8386	1261	44	2		2	KRTAP1-4	17	41029984	Missense_Mutation	SNP	G	C3L-01682_TP	1053105	41029984	42227457	87	7891											
KAT2A	0	.	GRCh38	chr17	42119331	42119331	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttccagcagctgccggcgGgtaacggtgaaaatggaccg	9	8	14	10	4	0	1	0	1	0	0	1	2	1	2	3	4	4	3	3	4	3	3	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.987C>T	p.=	p.T329T	ENST00000225916	6/18	237	221	16	221	221	0	strelka-mutect	KAT2A,synonymous_variant,p.=,ENST00000225916,NM_021078.2;HSPB9,upstream_gene_variant,,ENST00000565659,NM_033194.2;CTD-2132N18.3,downstream_gene_variant,,ENST00000592574,;KAT2A,synonymous_variant,p.=,ENST00000465682,;KAT2A,upstream_gene_variant,,ENST00000586972,;CTD-2132N18.3,downstream_gene_variant,,ENST00000592248,;CTD-2132N18.3,downstream_gene_variant,,ENST00000585562,;KAT2A,upstream_gene_variant,,ENST00000592310,;KAT2A,upstream_gene_variant,,ENST00000588759,;	A	ENST00000225916	Transcript	synonymous_variant	1041/3109	987/2514	329/837	T	acC/acT		1		-1	KAT2A	HGNC	HGNC:4201	protein_coding	YES	CCDS11417.1	ENSP00000225916	Q92830		UPI000000D978	NM_021078.2			6/18		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF124,PIRSF_domain:PIRSF003048,Pfam_domain:PF06466																	LOW	1	SNV	1			1										PASS		rs1245480291	.												A	2	1	25	42119331	42119331	G	A	1	0	0	0	0	0	0	0	1	7895	1219	43	3		3	KAT2A	17	42119331	Silent	SNP	G	C3L-01682_TP	1089347	42119331	41138110	88	7892											
HOXB1	0	.	GRCh38	chr17	48530473	48530473	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcggtctgctcgttcccAtaagggggatgctgcggagg	5	9	16	11	4	1	0	0	0	1	0	4	2	2	2	1	5	3	3	1	5	1	2	novel		C3L-01682_TP	C3L-01682_NB	A	A																c.432T>C	p.=	p.Y144Y	ENST00000239174	1/2	246	220	26	225	225	0	strelka-varscan-mutect	HOXB1,synonymous_variant,p.=,ENST00000239174,NM_002144.3;HOXB1,synonymous_variant,p.=,ENST00000577092,;	G	ENST00000239174	Transcript	synonymous_variant	525/2020	432/906	144/301	Y	taT/taC		1		-1	HOXB1	HGNC	HGNC:5111	protein_coding	YES	CCDS32675.1	ENSP00000355140	P14653		UPI0000163BFF	NM_002144.3			1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF167,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	25	48530473	48530473	A	G	1	0	0	0	0	0	0	0	1	7193	224	8	5		5	HOXB1	17	48530473	Silent	SNP	A	C3L-01682_TP	6411142	48530473	34726968	89	7893											
KCNH6	0	.	GRCh38	chr17	63534205	63534205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaatgatgaggtggtcaGccacccccgccgcatcgccg	8	5	11	17	4	1	2	1	2	0	0	2	2	1	2	6	2	1	1	6	2	1	0	rs759222952		C3L-01682_TP	C3L-01682_NB	G	G																c.995G>A	p.Ser332Asn	p.S332N	ENST00000583023	5/14	383	336	47	327	327	0	strelka-varscan-mutect	KCNH6,missense_variant,p.Ser332Asn,ENST00000583023,NM_030779.3;KCNH6,missense_variant,p.Ser332Asn,ENST00000314672,NM_001278919.1,NM_001278920.1;KCNH6,missense_variant,p.Ser332Asn,ENST00000581784,NM_173092.2;KCNH6,missense_variant,p.Ser332Asn,ENST00000456941,;KCNH6,missense_variant,p.Ser332Asn,ENST00000580652,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	A	ENST00000583023	Transcript	missense_variant	1006/3821	995/2985	332/994	S/N	aGc/aAc	rs759222952	1		1	KCNH6	HGNC	HGNC:18862	protein_coding	YES	CCDS11638.1	ENSP00000463533	Q9H252		UPI000012DCAB	NM_030779.3	deleterious(0)		5/14		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF468,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		rs759222952	.												A	3	1	25	63534205	63534205	G	A	1	0	0	0	0	1	0	0	0	7952	971	34	3		3	KCNH6	17	63534205	Missense_Mutation	SNP	G	C3L-01682_TP	15003732	63534205	19723236	90	7894											
FASN	0	.	GRCh38	chr17	82082647	82082647	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcacctgtacgccctggcgCctccaccggcggacctgctt	4	8	11	18	4	0	0	0	0	0	0	1	1	1	1	6	3	3	3	6	3	1	2	rs779145049		C3L-01682_TP	C3L-01682_NB	C	C																c.5799G>T	p.Arg1933Ser	p.R1933S	ENST00000306749	34/43	363	337	26	307	307	0	strelka-varscan-mutect	FASN,missense_variant,p.Arg1933Ser,ENST00000306749,NM_004104.4;FASN,missense_variant,p.Arg1931Ser,ENST00000634990,;FASN,upstream_gene_variant,,ENST00000636628,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,upstream_gene_variant,,ENST00000580382,;FASN,downstream_gene_variant,,ENST00000579410,;	A	ENST00000306749	Transcript	missense_variant	6018/8565	5799/7536	1933/2511	R/S	agG/agT	rs779145049	1		-1	FASN	HGNC	HGNC:3594	protein_coding	YES	CCDS11801.1	ENSP00000304592	P49327		UPI000013EB82	NM_004104.4	deleterious(0)		34/43		Gene3D:3.40.50.720,Pfam_domain:PF08659,hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF280,Low_complexity_(Seg):seg,SMART_domains:SM00822,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		rs779145049	.												A	3	1	25	82082647	82082647	C	A	1	0	0	0	0	1	0	0	0	5543	738	26	2		2	FASN	17	82082647	Missense_Mutation	SNP	C	C3L-01682_TP	18548442	82082647	1174794	91	7895											
SERPINB10	0	.	GRCh38	chr18	63935112	63935112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgaagctgcagctggcaGtgggagtgagatagatatac	12	9	14	6	0	0	3	0	2	0	2	0	5	0	4	0	2	5	4	0	2	5	4	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.1064G>T	p.Ser355Ile	p.S355I	ENST00000238508	8/8	177	167	10	218	218	0	strelka-varscan-mutect	SERPINB10,missense_variant,p.Ser355Ile,ENST00000238508,;SERPINB10,missense_variant,p.Ser355Ile,ENST00000619595,NM_005024.1;	T	ENST00000238508	Transcript	missense_variant	1123/2122	1064/1194	355/397	S/I	aGt/aTt		1		1	SERPINB10	HGNC	HGNC:8942	protein_coding	YES	CCDS11990.1	ENSP00000238508	P48595		UPI000013558E		deleterious(0.02)		8/8		Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF175,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	63935112	63935112	G	T	1	0	0	0	0	1	0	0	0	14373	1029	36	2		2	SERPINB10	18	63935112	Missense_Mutation	SNP	G	C3L-01682_TP		63935112	16438173	92	7896											
SALL3	0	.	GRCh38	chr18	78994999	78994999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagccatactaaggagcGgccattcgtctgcgcgctct	7	8	11	15	5	2	0	0	0	2	0	3	1	2	1	3	2	4	2	3	2	2	3			C3L-01682_TP	C3L-01682_NB	G	G																c.3008G>T	p.Arg1003Leu	p.R1003L	ENST00000537592	2/3	282	261	21	288	288	0	strelka-varscan-mutect	SALL3,missense_variant,p.Arg1003Leu,ENST00000537592,NM_171999.3;SALL3,intron_variant,,ENST00000536229,;SALL3,intron_variant,,ENST00000575389,;SALL3,intron_variant,,ENST00000616649,;SALL3,intron_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	T	ENST00000537592	Transcript	missense_variant	3008/6555	3008/3903	1003/1300	R/L	cGg/cTg	COSM1750593	1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3	deleterious(0.02)		2/3		PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46,Gene3D:3.30.160.60,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	5		1	1										PASS		rs1413367730	.												T	3	4	25	78994999	78994999	G	T	1	0	0	0	0	1	0	0	0	14071	1116	39	1		1	SALL3	18	78994999	Missense_Mutation	SNP	G	C3L-01682_TP	15059887	78994999	1378286	93	7897											
KDM4B	0	.	GRCh38	chr19	5131319	5131319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccagtgaggagctagaggCcaagcctcggcccatcatcc	9	5	12	15	1	1	2	1	1	0	1	3	3	2	3	5	3	2	1	5	3	2	1	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.1559C>G	p.Ala520Gly	p.A520G	ENST00000159111	12/23	245	220	25	271	271	0	strelka-varscan-mutect	KDM4B,missense_variant,p.Ala554Gly,ENST00000611640,;KDM4B,missense_variant,p.Ala520Gly,ENST00000159111,NM_015015.2;KDM4B,missense_variant,p.Ala554Gly,ENST00000536461,;KDM4B,missense_variant,p.Ala266Gly,ENST00000588361,;KDM4B,upstream_gene_variant,,ENST00000588166,;KDM4B,non_coding_transcript_exon_variant,,ENST00000589104,;	G	ENST00000159111	Transcript	missense_variant	1777/5593	1559/3291	520/1096	A/G	gCc/gGc		1		1	KDM4B	HGNC	HGNC:29136	protein_coding	YES	CCDS12138.1	ENSP00000159111		A0A0C4DFL8	UPI000023B7FC	NM_015015.2	tolerated(0.35)		12/23		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF30																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	25	5131319	5131319	C	G	1	0	0	0	0	1	0	0	0	8047	739	26	4		4	KDM4B	19	5131319	Missense_Mutation	SNP	C	C3L-01682_TP		5131319	53486297	94	7898											
FBN3	0	.	GRCh38	chr19	8096516	8096516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catgtagctgccttctgtgtCcatgcagtcaccatggctac	7	12	9	13	0	2	0	1	0	1	0	3	0	3	0	3	1	4	4	3	1	2	3	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.5467G>A	p.Asp1823Asn	p.D1823N	ENST00000600128	44/64	162	152	10	167	167	0	strelka-varscan-mutect	FBN3,missense_variant,p.Asp1823Asn,ENST00000600128,;FBN3,missense_variant,p.Asp1823Asn,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Asp1823Asn,ENST00000601739,NM_001321431.1;FBN3,missense_variant,p.Asp84Asn,ENST00000602121,;	T	ENST00000600128	Transcript	missense_variant	5882/9362	5467/8430	1823/2809	D/N	Gac/Aac		1		-1	FBN3	HGNC	HGNC:18794	protein_coding	YES	CCDS12196.1	ENSP00000470498	Q75N90		UPI000013D88F		tolerated(0.45)		44/64		PROSITE_profiles:PS50026,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PROSITE_patterns:PS00010,PIRSF_domain:PIRSF036312,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	8096516	8096516	C	T	1	0	0	0	0	1	0	0	0	5567	855	30	3		3	FBN3	19	8096516	Missense_Mutation	SNP	C	C3L-01682_TP	2965197	8096516	50521100	95	7899											
CACNA1A	0	.	GRCh38	chr19	13303780	13303780	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatacagttcccaaagagCgtcagtacaatgaaatagat	17	8	9	7	1	1	3	1	1	0	2	2	4	2	4	1	1	3	2	1	1	6	4	rs16016		C3L-01682_TP	C3L-01682_NB	C	C																c.2091G>T	p.=	p.T697T	ENST00000360228	16/47	266	245	21	250	250	0	strelka-varscan-mutect	CACNA1A,synonymous_variant,p.=,ENST00000638009,NM_001127221.1;CACNA1A,synonymous_variant,p.=,ENST00000635895,;CACNA1A,synonymous_variant,p.=,ENST00000637769,;CACNA1A,synonymous_variant,p.=,ENST00000360228,NM_001127222.1;CACNA1A,synonymous_variant,p.=,ENST00000614285,;CACNA1A,synonymous_variant,p.=,ENST00000637736,;CACNA1A,synonymous_variant,p.=,ENST00000636389,;CACNA1A,synonymous_variant,p.=,ENST00000638029,NM_023035.2;CACNA1A,synonymous_variant,p.=,ENST00000637432,NM_000068.3;CACNA1A,synonymous_variant,p.=,ENST00000573710,;CACNA1A,synonymous_variant,p.=,ENST00000635727,;CACNA1A,synonymous_variant,p.=,ENST00000636012,;CACNA1A,synonymous_variant,p.=,ENST00000637276,;CACNA1A,synonymous_variant,p.=,ENST00000637927,;CACNA1A,synonymous_variant,p.=,ENST00000636549,NM_001174080.1;CACNA1A,downstream_gene_variant,,ENST00000637966,;CACNA1A,downstream_gene_variant,,ENST00000636974,;CACNA1A,downstream_gene_variant,,ENST00000637117,;	A	ENST00000360228	Transcript	synonymous_variant	2326/8627	2091/7521	697/2506	T	acG/acT	rs16016	1		-1	CACNA1A	HGNC	HGNC:1388	protein_coding	YES	CCDS45998.1	ENSP00000353362	O00555		UPI0000141565	NM_001127222.1			16/47		Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Pfam_domain:PF00520,Superfamily_domains:SSF81324										likely_benign							LOW	1	SNV	1		1	1										PASS		rs16016	.												A	2	1	25	13303780	13303780	C	A	1	0	0	0	0	0	0	0	1	2226	755	27	1		1	CACNA1A	19	13303780	Silent	SNP	C	C3L-01682_TP	5207264	13303780	45313836	96	7900											
SLC1A6	0	.	GRCh38	chr19	14956645	14956645	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctgaccccccaggaCggccatgtcttccatctcca	7	7	8	19	1	2	1	0	1	2	0	4	2	3	2	7	2	1	1	7	2	0	1	rs751282250		C3L-01682_TP	C3L-01682_NB	C	C																c.1000G>T	p.Val334Phe	p.V334F	ENST00000221742	6/9	166	146	20	165	165	0	strelka-varscan-mutect	SLC1A6,missense_variant,p.Val270Phe,ENST00000430939,;SLC1A6,missense_variant,p.Val334Phe,ENST00000221742,NM_005071.2;SLC1A6,intron_variant,,ENST00000600144,;SLC1A6,downstream_gene_variant,,ENST00000598504,NM_001272087.1;SLC1A6,downstream_gene_variant,,ENST00000544886,NM_001272088.1;	A	ENST00000221742	Transcript	missense_variant	1008/1719	1000/1695	334/564	V/F	Gtc/Ttc	rs751282250,COSM349515,COSM84500	1		-1	SLC1A6	HGNC	HGNC:10944	protein_coding	YES	CCDS12321.1	ENSP00000221742	P48664		UPI0000129B1A	NM_005071.2	deleterious(0.02)		6/9		hmmpanther:PTHR11958:SF67,hmmpanther:PTHR11958,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs751282250	.												A	3	1	25	14956645	14956645	C	A	1	0	0	0	0	1	0	0	0	14702	536	19	1		1	SLC1A6	19	14956645	Missense_Mutation	SNP	C	C3L-01682_TP	1652865	14956645	43660971	97	7901											
RASAL3	0	.	GRCh38	chr19	15458638	15458638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggccagcgactccctagagCccagagcactggggggtctg	7	6	15	13	1	1	2	0	0	1	2	2	3	2	2	3	4	3	1	3	4	1	1	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.680G>T	p.Gly227Val	p.G227V	ENST00000343625	7/18	197	175	22	239	239	0	strelka-mutect	RASAL3,missense_variant,p.Gly227Val,ENST00000343625,NM_022904.1;RASAL3,upstream_gene_variant,,ENST00000609274,;RASAL3,upstream_gene_variant,,ENST00000599694,;RASAL3,upstream_gene_variant,,ENST00000608577,;RASAL3,upstream_gene_variant,,ENST00000595098,;RASAL3,non_coding_transcript_exon_variant,,ENST00000602101,;RASAL3,upstream_gene_variant,,ENST00000597025,;	A	ENST00000343625	Transcript	missense_variant	766/3293	680/3036	227/1011	G/V	gGc/gTc		1		-1	RASAL3	HGNC	HGNC:26129	protein_coding	YES	CCDS46006.1	ENSP00000341905	Q86YV0		UPI0000197831	NM_022904.1	deleterious(0)		7/18		hmmpanther:PTHR10194:SF96,hmmpanther:PTHR10194																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	25	15458638	15458638	C	A	1	0	0	0	0	1	0	0	0	13226	739	26	2		2	RASAL3	19	15458638	Missense_Mutation	SNP	C	C3L-01682_TP	501993	15458638	43158978	98	7902											
POP4	0	.	GRCh38	chr19	29610595	29610595	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctctgccaggcaaaggaggGagctgcggctctttgacatt	8	10	13	10	1	2	1	0	1	2	0	3	3	2	3	1	4	3	3	1	4	1	2	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.247G>C	p.Glu83Gln	p.E83Q	ENST00000585603	3/7	265	251	14	308	308	0	strelka-varscan-mutect	POP4,missense_variant,p.Glu83Gln,ENST00000585603,NM_006627.2;POP4,missense_variant,p.Glu83Gln,ENST00000586420,;POP4,missense_variant,p.Glu112Gln,ENST00000590688,;POP4,intron_variant,,ENST00000221770,;POP4,non_coding_transcript_exon_variant,,ENST00000591824,;POP4,non_coding_transcript_exon_variant,,ENST00000586136,;POP4,non_coding_transcript_exon_variant,,ENST00000592759,;POP4,3_prime_UTR_variant,,ENST00000586823,;POP4,non_coding_transcript_exon_variant,,ENST00000588551,;POP4,intron_variant,,ENST00000591061,;POP4,downstream_gene_variant,,ENST00000586173,;POP4,upstream_gene_variant,,ENST00000587232,;POP4,upstream_gene_variant,,ENST00000592749,;	C	ENST00000585603	Transcript	missense_variant	2549/3385	247/663	83/220	E/Q	Gag/Cag		1		1	POP4	HGNC	HGNC:30081	protein_coding	YES	CCDS12416.1	ENSP00000465213	O95707		UPI0000034DFA	NM_006627.2	tolerated(0.2)		3/7		hmmpanther:PTHR13348,PIRSF_domain:PIRSF027081																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	25	29610595	29610595	G	C	1	0	0	0	0	1	0	0	0	12366	1175	41	4		4	POP4	19	29610595	Missense_Mutation	SNP	G	C3L-01682_TP	14151957	29610595	29007021	99	7903											
ZNF780A	0	.	GRCh38	chr19	40075509	40075509	+	Frame_Shift_Del	DEL	C	C	-																															taatgatatcgaaaggccatCccacattccttacatacaaa																								novel		C3L-01682_TP	C3L-01682_NB	C	C																c.936delG	p.Met313TrpfsTer34	p.M313Wfs*34	ENST00000455521	6/6	397	370	27	382	381	1	varindel-pindel	ZNF780A,frameshift_variant,p.Met278TrpfsTer34,ENST00000450241,;ZNF780A,frameshift_variant,p.Met312TrpfsTer34,ENST00000340963,NM_001010880.2,NM_001142578.1;ZNF780A,frameshift_variant,p.Met313TrpfsTer34,ENST00000455521,NM_001142577.1;ZNF780A,frameshift_variant,p.Met312TrpfsTer34,ENST00000595687,;ZNF780A,frameshift_variant,p.Met313TrpfsTer34,ENST00000594395,;ZNF780A,intron_variant,,ENST00000414720,NM_001142579.1;ZNF780A,downstream_gene_variant,,ENST00000595773,;ZNF780A,downstream_gene_variant,,ENST00000599972,;AC005614.5,intron_variant,,ENST00000595508,;ZNF780A,downstream_gene_variant,,ENST00000599368,;ZNF780A,downstream_gene_variant,,ENST00000601688,;ZNF780A,downstream_gene_variant,,ENST00000601715,;	-	ENST00000455521	Transcript	frameshift_variant	1084/3600	936/1929	312/642	G/X	ggG/gg		1		-1	ZNF780A	HGNC	HGNC:27603	protein_coding	YES	CCDS46079.1	ENSP00000400997	O75290		UPI0001881B53	NM_001142577.1			6/6		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF313,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	25	40075509	40075509	C	-	1	0	1	0	1	0	0	0	0	18735	842	30	0		0	ZNF780A	19	40075509	Frame_Shift_Del	DEL	C	C3L-01682_TP	10464914	40075509	18542107	100	7904											
ZNF525	0	.	GRCh38	chr19	53380927	53380927	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacccatgacaaaaatCaaaaaattgatgggtagtac	19	7	8	7	0	1	2	1	2	0	0	1	3	1	2	1	1	2	3	1	1	8	3	rs570381955		C3L-01682_TP	C3L-01682_NB	C	C																c.348C>A	p.=	p.I116I	ENST00000474037	4/4	176	162	14	178	176	2	varscan-mutect	ZNF525,synonymous_variant,p.=,ENST00000467003,;ZNF525,synonymous_variant,p.=,ENST00000474037,;ZNF525,intron_variant,,ENST00000475179,;ZNF525,intron_variant,,ENST00000593918,;ZNF525,intron_variant,,ENST00000635711,;ZNF525,downstream_gene_variant,,ENST00000491101,;ZNF525,non_coding_transcript_exon_variant,,ENST00000600148,;ZNF525,upstream_gene_variant,,ENST00000601790,;ZNF525,downstream_gene_variant,,ENST00000497729,;	A	ENST00000474037	Transcript	synonymous_variant	482/3890	348/1440	116/479	I	atC/atA	rs570381955,COSM2928739	1		1	ZNF525	HGNC	HGNC:29423	protein_coding	YES		ENSP00000417696		J3KR51	UPI0000EE700C				4/4		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF301											0,1						LOW	1	SNV	5		0,1	1										PASS		rs570381955	.												A	2	1	25	53380927	53380927	C	A	1	0	0	0	0	0	0	0	1	18539	816	29	2		2	ZNF525	19	53380927	Silent	SNP	C	C3L-01682_TP	13305418	53380927	5236689	101	7905											
MCM8	0	.	GRCh38	chr20	5983030	5983030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatcaagccttgttggaagCcatggagcagcaaagtatta	14	9	10	8	0	1	0	1	0	0	0	1	2	1	2	2	2	4	4	2	2	5	4	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.1718C>T	p.Ala573Val	p.A573V	ENST00000378886	14/19	346	307	39	404	404	0	strelka-varscan-mutect	MCM8,missense_variant,p.Ala533Val,ENST00000610722,;MCM8,missense_variant,p.Ala573Val,ENST00000378886,NM_001281521.1;MCM8,missense_variant,p.Ala533Val,ENST00000378896,NM_001281520.1,NM_032485.5;MCM8,missense_variant,p.Ala486Val,ENST00000378883,NM_001281522.1;MCM8,missense_variant,p.Ala517Val,ENST00000265187,NM_182802.2;	T	ENST00000378886	Transcript	missense_variant	2095/3835	1718/2643	573/880	A/V	gCc/gTc		1		1	MCM8	HGNC	HGNC:16147	protein_coding	YES	CCDS63227.1	ENSP00000368164	Q9UJA3		UPI0000D61029	NM_001281521.1	deleterious(0.03)		14/19		PROSITE_profiles:PS50051,hmmpanther:PTHR11630:SF47,hmmpanther:PTHR11630,Pfam_domain:PF00493,Gene3D:3.40.50.300,SMART_domains:SM00382,SMART_domains:SM00350,Superfamily_domains:SSF52540,Prints_domain:PR01657																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	5983030	5983030	C	T	1	0	0	0	0	1	0	0	0	9325	739	26	3		3	MCM8	20	5983030	Missense_Mutation	SNP	C	C3L-01682_TP		5983030	58461137	102	7906											
LAMA5	0	.	GRCh38	chr20	62309786	62309786	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcaaggggcccacggtgtgGttgctctgcgcgtccacctc	5	8	14	14	3	1	0	0	0	1	0	3	0	2	0	3	4	3	3	3	4	1	1	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.10878C>G	p.Asn3626Lys	p.N3626K	ENST00000252999	79/80	209	194	15	226	226	0	strelka-varscan-mutect	LAMA5,missense_variant,p.Asn3626Lys,ENST00000252999,NM_005560.4;ADRM1,downstream_gene_variant,,ENST00000491935,;ADRM1,downstream_gene_variant,,ENST00000253003,NM_007002.3,NM_175573.2;ADRM1,downstream_gene_variant,,ENST00000620230,NM_001281437.1,NM_001281438.1;ADRM1,downstream_gene_variant,,ENST00000462554,;RP11-157P1.4,upstream_gene_variant,,ENST00000414042,;LAMA5,upstream_gene_variant,,ENST00000492698,;ADRM1,downstream_gene_variant,,ENST00000465805,;LAMA5,non_coding_transcript_exon_variant,,ENST00000370691,;LAMA5,non_coding_transcript_exon_variant,,ENST00000495695,;LAMA5,downstream_gene_variant,,ENST00000491036,;LAMA5,downstream_gene_variant,,ENST00000462415,;LAMA5,downstream_gene_variant,,ENST00000468786,;	C	ENST00000252999	Transcript	missense_variant	10945/11426	10878/11088	3626/3695	N/K	aaC/aaG		1		-1	LAMA5	HGNC	HGNC:6485	protein_coding	YES	CCDS33502.1	ENSP00000252999	O15230		UPI0000161FDC	NM_005560.4	deleterious(0.01)		79/80		PROSITE_profiles:PS50025,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	25	62309786	62309786	G	C	1	0	0	0	0	1	0	0	0	8513	1252	44	4		4	LAMA5	20	62309786	Missense_Mutation	SNP	G	C3L-01682_TP	56326756	62309786	2134381	103	7907											
TNFRSF6B	0	.	GRCh38	chr20	63697330	63697330	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctcctggctgcaggcAcccccagccagaacacgcag	8	5	9	19	1	0	1	0	0	0	1	2	1	2	1	5	2	3	4	5	2	1	1	novel		C3L-01682_TP	C3L-01682_NB	A	A																c.427A>T	p.Thr143Ser	p.T143S	ENST00000369996	2/3	208	176	32	237	237	0	strelka-varscan-mutect	TNFRSF6B,missense_variant,p.Thr143Ser,ENST00000369996,NM_003823.3;RTEL1,downstream_gene_variant,,ENST00000370018,NM_016434.3;RTEL1,downstream_gene_variant,,ENST00000318100,NM_001283010.1;RTEL1,downstream_gene_variant,,ENST00000360203,NM_001283009.1;RTEL1,downstream_gene_variant,,ENST00000508582,NM_032957.4;ARFRP1,downstream_gene_variant,,ENST00000612256,;ARFRP1,downstream_gene_variant,,ENST00000622789,NM_001267547.2,NM_003224.5;ARFRP1,downstream_gene_variant,,ENST00000614942,NM_001267545.2;ARFRP1,downstream_gene_variant,,ENST00000619493,NM_001267548.2;RTEL1,downstream_gene_variant,,ENST00000370003,;ARFRP1,downstream_gene_variant,,ENST00000612157,NM_001267549.2,NM_001134758.3,NM_001267544.2;ARFRP1,downstream_gene_variant,,ENST00000618838,;ARFRP1,downstream_gene_variant,,ENST00000607873,NM_001267546.2;ARFRP1,downstream_gene_variant,,ENST00000612772,;ARFRP1,downstream_gene_variant,,ENST00000610414,;ARFRP1,downstream_gene_variant,,ENST00000609188,;RTEL1-TNFRSF6B,splice_region_variant,,ENST00000480273,;RTEL1-TNFRSF6B,splice_region_variant,,ENST00000496281,;RTEL1-TNFRSF6B,splice_region_variant,,ENST00000482936,;RTEL1-TNFRSF6B,splice_region_variant,,ENST00000492259,;ARFRP1,downstream_gene_variant,,ENST00000610774,;RTEL1,downstream_gene_variant,,ENST00000496816,;ARFRP1,downstream_gene_variant,,ENST00000618568,;ARFRP1,downstream_gene_variant,,ENST00000609537,;	T	ENST00000369996	Transcript	missense_variant,splice_region_variant	527/1124	427/903	143/300	T/S	Acc/Tcc		1		1	TNFRSF6B	HGNC	HGNC:11921	protein_coding	YES	CCDS13532.1	ENSP00000359013	O95407		UPI0000032CAD	NM_003823.3	tolerated(0.06)		2/3		Gene3D:2.10.50.10,Pfam_domain:PF00020,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF116,SMART_domains:SM00208,Superfamily_domains:SSF57586																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	63697330	63697330	A	T	1	0	0	0	0	1	0	0	0	16772	173	6	4		4	TNFRSF6B	20	63697330	Missense_Mutation	SNP	A	C3L-01682_TP	1387544	63697330	746837	104	7908											
SHROOM2	0	.	GRCh38	chrX	9895238	9895238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgtgctgacagccttGggcaggagccaggggctgcc	5	7	15	14	0	1	1	0	1	1	0	1	2	1	2	4	4	4	3	4	4	0	1	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.1330G>T	p.Gly444Trp	p.G444W	ENST00000380913	4/10	85	71	14	94	93	1	strelka-varscan-mutect	SHROOM2,missense_variant,p.Gly444Trp,ENST00000380913,NM_001649.2;SHROOM2,upstream_gene_variant,,ENST00000493668,;	T	ENST00000380913	Transcript	missense_variant	1420/7447	1330/4851	444/1616	G/W	Ggg/Tgg		1		1	SHROOM2	HGNC	HGNC:630	protein_coding	YES	CCDS14135.1	ENSP00000370299	Q13796		UPI0000125D05	NM_001649.2	tolerated(0.07)		4/10		hmmpanther:PTHR15012:SF8,hmmpanther:PTHR15012																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	9895238	9895238	G	T	1	0	0	0	0	1	0	0	0	14557	1348	47	2		2	SHROOM2	23	9895238	Missense_Mutation	SNP	G	C3L-01682_TP		9895238	146145657	105	7909											
BMX	0	.	GRCh38	chrX	15534223	15534223	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgttactagtgataaaaaagGaactgtcaaacattaccacg	17	10	7	7	1	1	1	1	1	0	0	1	2	1	2	1	1	4	1	1	1	8	4	rs756542747		C3L-01682_TP	C3L-01682_NB	G	G																c.1031G>C	p.Gly344Ala	p.G344A	ENST00000357607	12/19	153	145	8	142	142	0	strelka-varscan-mutect	BMX,missense_variant,p.Gly344Ala,ENST00000357607,;BMX,missense_variant,p.Gly344Ala,ENST00000348343,NM_001320866.1,NM_203281.2;BMX,missense_variant,p.Gly344Ala,ENST00000342014,NM_001721.6;BMX,intron_variant,,ENST00000489983,;	C	ENST00000357607	Transcript	missense_variant	1219/2598	1031/2028	344/675	G/A	gGa/gCa	rs756542747	1		1	BMX	HGNC	HGNC:1079	protein_coding	YES	CCDS14168.1	ENSP00000350224	P51813		UPI0000000DFF		tolerated(0.11)		12/19		Gene3D:3.30.505.10,Pfam_domain:PF00017,PROSITE_profiles:PS50001,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF91,SMART_domains:SM00252,Superfamily_domains:SSF55550																	MODERATE	1	SNV	2			1										PASS		rs756542747	.												C	3	2	25	15534223	15534223	G	C	1	0	0	0	0	1	0	0	0	1629	1174	41	4		4	BMX	23	15534223	Missense_Mutation	SNP	G	C3L-01682_TP	5638985	15534223	140506672	106	7910											
RPGR	0	.	GRCh38	chrX	38310614	38310614	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacagtggactccacacataCccgtgagaaccacagtatgc	14	6	8	13	1	0	1	0	1	0	1	1	3	1	2	3	1	4	1	3	1	4	2			C3L-01682_TP	C3L-01682_NB	C	C																c.778+1G>T		p.X260_splice	ENST00000378505		437	405	32	485	484	1	strelka-varscan-mutect	RPGR,splice_donor_variant,,ENST00000378505,NM_001034853.1;RPGR,splice_donor_variant,,ENST00000339363,;RPGR,splice_donor_variant,,ENST00000318842,NM_000328.2;RP5-972B16.2,intron_variant,,ENST00000465127,;SNORA31,upstream_gene_variant,,ENST00000516241,;RPGR,splice_donor_variant,,ENST00000482855,;RPGR,splice_donor_variant,,ENST00000474584,;	A	ENST00000378505	Transcript	splice_donor_variant	-/4767	778/3459	260/1152			CS067115,RPGR_00318	1		-1	RPGR	HGNC	HGNC:10295	protein_coding	YES	CCDS35229.1	ENSP00000367766	Q92834		UPI00005D3C95	NM_001034853.1				7/14																		HIGH	1	SNV	5		1,0	1										PASS		.	.												A	5	1	25	38310614	38310614	C	A	1	0	0	0	0	0	0	1	0	13800	521	18	2		2	RPGR	23	38310614	Splice_Site	SNP	C	C3L-01682_TP	22776391	38310614	117730281	107	7911											
RBM10	0	.	GRCh38	chrX	47179431	47179431	+	Missense_Mutation	SNP	G	G	T																															ccgcagccctaccaggcccaGggagtcctggcctcccaagc																								novel		C3L-01682_TP	C3L-01682_NB	G	G																c.1032G>T	p.Gln344His	p.Q344H	ENST00000329236	9/24	232	207	25	219	219	0	strelka-varscan-mutect	RBM10,missense_variant,p.Gln279His,ENST00000377604,NM_005676.4,NM_001204467.1;RBM10,missense_variant,p.Gln344His,ENST00000329236,NM_001204468.1;RBM10,missense_variant,p.Gln202His,ENST00000345781,NM_001204466.1;RBM10,missense_variant,p.Gln202His,ENST00000628161,NM_152856.2;RBM10,non_coding_transcript_exon_variant,,ENST00000478410,;RBM10,intron_variant,,ENST00000496012,;	T	ENST00000329236	Transcript	missense_variant	1032/3201	1032/2988	344/995	Q/H	caG/caT		1		1	RBM10	HGNC	HGNC:9896	protein_coding	YES	CCDS75969.1	ENSP00000328848		A0A0A0MR66	UPI0000211F0E	NM_001204468.1	tolerated(0.06)		9/24		hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	25	47179431	47179431	G	T	1	0	0	0	0	1	0	0	0	13277	991	35	2		2	RBM10	23	47179431	Missense_Mutation	SNP	G	C3L-01682_TP	8868817	47179431	108861464	108	7912	181	2									
RBM10	0	.	GRCh38	chrX	47179432	47179432	+	Nonsense_Mutation	SNP	G	G	T																															cgcagccctaccaggcccagGgagtcctggcctcccaagcc																								novel		C3L-01682_TP	C3L-01682_NB	G	G																c.1033G>T	p.Gly345Ter	p.G345*	ENST00000329236	9/24	230	206	24	221	221	0	strelka-varscan-mutect	RBM10,stop_gained,p.Gly280Ter,ENST00000377604,NM_005676.4,NM_001204467.1;RBM10,stop_gained,p.Gly345Ter,ENST00000329236,NM_001204468.1;RBM10,stop_gained,p.Gly203Ter,ENST00000345781,NM_001204466.1;RBM10,stop_gained,p.Gly203Ter,ENST00000628161,NM_152856.2;RBM10,non_coding_transcript_exon_variant,,ENST00000478410,;RBM10,intron_variant,,ENST00000496012,;	T	ENST00000329236	Transcript	stop_gained	1033/3201	1033/2988	345/995	G/*	Gga/Tga		1		1	RBM10	HGNC	HGNC:9896	protein_coding	YES	CCDS75969.1	ENSP00000328848		A0A0A0MR66	UPI0000211F0E	NM_001204468.1			9/24		hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF4																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	25	47179432	47179432	G	T	1	0	0	0	0	0	1	0	0	13277	1233	43	2		2	RBM10	23	47179432	Nonsense_Mutation	SNP	G	C3L-01682_TP	1	47179432	108861463	109	7913	181	2									
FAM155B	0	.	GRCh38	chrX	69505459	69505459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaccgtgctgctcgctgaCcatctgtggctgtgcgcggg	3	11	14	13	4	2	1	1	1	1	0	3	1	2	1	2	2	3	4	2	2	0	1	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.177C>T	p.=	p.D59D	ENST00000252338	1/3	99	87	12	83	83	0	strelka-varscan-mutect	FAM155B,synonymous_variant,p.=,ENST00000252338,NM_015686.2;	T	ENST00000252338	Transcript	synonymous_variant	219/4013	177/1419	59/472	D	gaC/gaT		1		1	FAM155B	HGNC	HGNC:30701	protein_coding	YES	CCDS35317.1	ENSP00000252338	O75949		UPI0000070EAA	NM_015686.2			1/3		hmmpanther:PTHR15819,hmmpanther:PTHR15819:SF8																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	25	69505459	69505459	C	T	1	0	0	0	0	0	0	0	1	5314	506	18	3		3	FAM155B	23	69505459	Silent	SNP	C	C3L-01682_TP	22326027	69505459	86535436	110	7914											
ZCCHC13	0	.	GRCh38	chrX	74304557	74304557	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttatacctgcggcagactAggacatctggctcgtgactg	8	11	12	10	2	1	2	0	1	1	1	2	3	1	3	1	3	2	3	1	3	3	3	novel		C3L-01682_TP	C3L-01682_NB	A	A																c.291A>G	p.=	p.L97L	ENST00000339534	1/1	319	286	33	317	317	0	strelka-varscan-mutect	ZCCHC13,synonymous_variant,p.=,ENST00000339534,NM_203303.2;	G	ENST00000339534	Transcript	synonymous_variant	368/842	291/501	97/166	L	ctA/ctG		1		1	ZCCHC13	HGNC	HGNC:31749	protein_coding	YES	CCDS14425.1	ENSP00000345633	Q8WW36		UPI0000070721	NM_203303.2			1/1		Gene3D:4.10.60.10,Pfam_domain:PF00098,PROSITE_profiles:PS50158,hmmpanther:PTHR23002,hmmpanther:PTHR23002:SF53,SMART_domains:SM00343,Superfamily_domains:SSF57756																	LOW	1	SNV				1										PASS		.	.												G	2	3	25	74304557	74304557	A	G	1	0	0	0	0	0	0	0	1	18157	407	15	5		5	ZCCHC13	23	74304557	Silent	SNP	A	C3L-01682_TP	4799098	74304557	81736338	111	7915											
GPR174	0	.	GRCh38	chrX	79171266	79171266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcatgactggccatttGggcctggtctctgcatgttc	6	14	11	10	0	2	2	1	2	1	0	4	2	2	2	2	3	1	2	2	3	1	2			C3L-01682_TP	C3L-01682_NB	G	G																c.259G>A	p.Gly87Arg	p.G87R	ENST00000276077	1/1	241	224	17	239	239	0	strelka-varscan-mutect	GPR174,missense_variant,p.Gly87Arg,ENST00000276077,NM_032553.1;	A	ENST00000276077	Transcript	missense_variant	295/1258	259/1002	87/333	G/R	Ggg/Agg	COSM5320570	1		1	GPR174	HGNC	HGNC:30245	protein_coding	YES	CCDS14443.1	ENSP00000276077	Q9BXC1		UPI0000050477	NM_032553.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF4,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	25	79171266	79171266	G	A	1	0	0	0	0	1	0	0	0	6556	1348	47	3		3	GPR174	23	79171266	Missense_Mutation	SNP	G	C3L-01682_TP	4866709	79171266	76869629	112	7916											
RPL36A-HNRNPH2	0	.	GRCh38	chrX	101411935	101411935	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttctttttttttttttcaGctacaccaaaattgcattga	9	21	3	8	0	3	1	1	1	2	0	3	1	3	1	1	0	3	2	1	0	3	10	novel		C3L-01682_TP	C3L-01682_NB	G	G																c.-53-1G>T			ENST00000316594		49	42	7	35	35	0	varscan-mutect	HNRNPH2,splice_acceptor_variant,,ENST00000316594,NM_001032393.2,NM_019597.4;RPL36A-HNRNPH2,splice_acceptor_variant,,ENST00000409338,;RPL36A-HNRNPH2,splice_acceptor_variant,,ENST00000409170,NM_001199973.1;GLA,upstream_gene_variant,,ENST00000218516,NM_000169.2;GLA,upstream_gene_variant,,ENST00000479445,;GLA,upstream_gene_variant,,ENST00000486121,;GLA,upstream_gene_variant,,ENST00000480513,;GLA,upstream_gene_variant,,ENST00000493905,;	T	ENST00000316594	Transcript	splice_acceptor_variant	-/2223	-/1350	-/449				1		1	HNRNPH2	HGNC	HGNC:5042	protein_coding	YES	CCDS14485.1	ENSP00000361927	P55795		UPI0000134537	NM_001032393.2,NM_019597.4				1/1																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	25	101411935	101411935	G	T	1	0	0	0	0	0	0	1	0	13840	985	34	2		2	RPL36A-HNRNPH2	23	101411935	Splice_Site	SNP	G	C3L-01682_TP	22240669	101411935	54628960	113	7917											
MID2	0	.	GRCh38	chrX	107854632	107854632	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actctggagatgaacctcacCaacctggttaagcgcaacag	13	7	9	12	1	2	2	1	1	1	1	2	3	2	2	3	2	4	2	3	2	4	1	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.744C>A	p.=	p.T248T	ENST00000262843	3/10	318	300	18	277	276	1	strelka-varscan-mutect	MID2,synonymous_variant,p.=,ENST00000262843,NM_012216.3;MID2,synonymous_variant,p.=,ENST00000443968,NM_052817.2;	A	ENST00000262843	Transcript	synonymous_variant	1292/2876	744/2208	248/735	T	acC/acA		1		1	MID2	HGNC	HGNC:7096	protein_coding	YES	CCDS14532.2	ENSP00000262843	Q9UJV3		UPI0000D4F411	NM_012216.3			3/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF283,SMART_domains:SM00502,Superfamily_domains:SSF57845																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	25	107854632	107854632	C	A	1	0	0	0	0	0	0	0	1	9538	581	21	2		2	MID2	23	107854632	Silent	SNP	C	C3L-01682_TP	6442697	107854632	48186263	114	7918											
TENM1	0	.	GRCh38	chrX	124385872	124385872	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtctgtagcaatcggcCatctcgactatagtcttgga	9	11	11	10	2	3	0	0	0	3	0	5	2	3	1	1	3	1	2	1	3	4	4			C3L-01682_TP	C3L-01682_NB	C	C																c.5881G>T	p.Gly1961Cys	p.G1961C	ENST00000422452	29/32	238	191	47	212	212	0	strelka-varscan-mutect	TENM1,missense_variant,p.Gly1961Cys,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,missense_variant,p.Gly1954Cys,ENST00000371130,NM_014253.3;STAG2,intron_variant,,ENST00000469481,;	A	ENST00000422452	Transcript	missense_variant	5945/12891	5881/8199	1961/2732	G/C	Ggc/Tgc	COSM5271025,COSM610617	1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1	deleterious(0)		29/32		hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	25	124385872	124385872	C	A	1	0	0	0	0	1	0	0	0	16171	594	21	2		2	TENM1	23	124385872	Missense_Mutation	SNP	C	C3L-01682_TP	16531240	124385872	31655023	115	7919											
ATP2B3	0	.	GRCh38	chrX	153564979	153564979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggaagccgggcacgggcCcgggaaggacgagatgaccg	11	1	19	10	5	0	2	0	1	0	1	0	7	0	5	3	5	1	1	3	5	3	0	novel		C3L-01682_TP	C3L-01682_NB	C	C																c.3218C>A	p.Pro1073His	p.P1073H	ENST00000263519	19/20	200	189	11	196	195	1	strelka-mutect	ATP2B3,missense_variant,p.Pro1059His,ENST00000370186,;ATP2B3,missense_variant,p.Pro1073His,ENST00000263519,NM_001001344.2;ATP2B3,missense_variant,p.Pro1073His,ENST00000349466,;ATP2B3,missense_variant,p.Pro1073His,ENST00000359149,NM_021949.3;ATP2B3,missense_variant,p.Pro1059His,ENST00000393842,;ATP2B3,downstream_gene_variant,,ENST00000460549,;ATP2B3,upstream_gene_variant,,ENST00000496610,;	A	ENST00000263519	Transcript	missense_variant	3344/6420	3218/3663	1073/1220	P/H	cCc/cAc		1		1	ATP2B3	HGNC	HGNC:816	protein_coding	YES	CCDS35440.1	ENSP00000263519	Q16720		UPI00001AE881	NM_001001344.2	tolerated(0.14)		19/20		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF284																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	25	153564979	153564979	C	A	1	0	0	0	0	1	0	0	0	1294	623	22	2		2	ATP2B3	23	153564979	Missense_Mutation	SNP	C	C3L-01682_TP	29179107	153564979	2475916	116	7920											
HCFC1	0	.	GRCh38	chrX	153954312	153954312	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtggtgccagtggaagTggtctggtgtgtctcacagg	6	11	17	7	0	2	0	1	0	2	0	3	1	2	1	1	6	1	0	1	6	1	0	novel		C3L-01682_TP	C3L-01682_NB	T	T																c.4087A>T	p.Thr1363Ser	p.T1363S	ENST00000310441	17/26	114	87	27	83	82	1	strelka-varscan-mutect	HCFC1,missense_variant,p.Thr1363Ser,ENST00000310441,NM_005334.2;HCFC1,missense_variant,p.Thr1363Ser,ENST00000369984,;HCFC1,upstream_gene_variant,,ENST00000444191,;	A	ENST00000310441	Transcript	missense_variant	5054/8869	4087/6108	1363/2035	T/S	Act/Tct		1		-1	HCFC1	HGNC	HGNC:4839	protein_coding	YES	CCDS44020.1	ENSP00000309555	P51610		UPI0000142F1F	NM_005334.2	tolerated_low_confidence(0.68)		17/26		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	25	153954312	153954312	T	A	1	0	0	0	0	1	0	0	0	6879	1696	59	4		4	HCFC1	23	153954312	Missense_Mutation	SNP	T	C3L-01682_TP	389333	153954312	2086583	117	7921											
TMEM61	0	.	GRCh38	chr1	54986310	54986310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgtctgctgcggtgcaGgtggcctgctgctgctcatt	2	13	14	12	2	2	0	1	0	1	0	3	0	2	0	1	3	6	6	1	3	0	2	novel		C3L-01683_TP	C3L-01683_NB	G	G																c.229G>T	p.Gly77Cys	p.G77C	ENST00000371268	2/3	170	158	12	208	208	0	strelka-varscan-mutect	TMEM61,missense_variant,p.Gly77Cys,ENST00000371268,NM_182532.2;RP11-12C17.2,intron_variant,,ENST00000436960,;	T	ENST00000371268	Transcript	missense_variant	503/1097	229/633	77/210	G/C	Ggt/Tgt		1		1	TMEM61	HGNC	HGNC:27296	protein_coding	YES	CCDS601.1	ENSP00000360315	Q8N0U2		UPI00000361F8	NM_182532.2	deleterious(0)		2/3		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR37151,hmmpanther:PTHR37151:SF1,Pfam_domain:PF15105																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	26	54986310	54986310	G	T	1	0	0	0	0	1	0	0	0	16664	1000	35	2		2	TMEM61	1	54986310	Missense_Mutation	SNP	G	C3L-01683_TP		54986310	193970112	1	7922											
LRRC7	0	.	GRCh38	chr1	70038177	70038177	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagccagcgggaggctgttCccccaggcaatataccacag	10	6	11	14	1	1	0	1	0	0	0	2	1	2	1	4	3	3	3	4	3	3	3	novel		C3L-01683_TP	C3L-01683_NB	C	C																c.2239C>A	p.Pro747Thr	p.P747T	ENST00000035383	19/25	123	116	7	155	155	0	varscan-mutect	LRRC7,missense_variant,p.Pro752Thr,ENST00000310961,;LRRC7,missense_variant,p.Pro747Thr,ENST00000035383,NM_020794.2;LRRC7,missense_variant,p.Pro31Thr,ENST00000415775,;	A	ENST00000035383	Transcript	missense_variant	2269/5000	2239/4614	747/1537	P/T	Ccc/Acc		1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2	deleterious_low_confidence(0)		19/25																			MODERATE	1	SNV	1			1										PASS		rs1355662935	.												A	3	1	26	70038177	70038177	C	A	1	0	0	0	0	1	0	0	0	8916	855	30	2		2	LRRC7	1	70038177	Missense_Mutation	SNP	C	C3L-01683_TP	15051867	70038177	178918245	2	7923											
ADIPOR1	0	.	GRCh38	chr1	202943926	202943926	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccccataattagaagagCaatccctgaatagtccagtc	13	9	7	12	0	0	3	0	1	0	2	4	3	3	3	4	0	1	2	4	0	6	3	novel		C3L-01683_TP	C3L-01683_NB	C	C																c.637G>T	p.Ala213Ser	p.A213S	ENST00000340990	6/8	95	88	7	139	139	0	strelka-varscan-mutect	ADIPOR1,missense_variant,p.Ala213Ser,ENST00000340990,NM_015999.5,NM_001290553.1,NM_001290557.1,NM_001290629.1;ADIPOR1,missense_variant,p.Ala213Ser,ENST00000417068,;ADIPOR1,intron_variant,,ENST00000367254,;ADIPOR1,downstream_gene_variant,,ENST00000426229,;ADIPOR1,non_coding_transcript_exon_variant,,ENST00000495562,;	A	ENST00000340990	Transcript	missense_variant	936/2177	637/1128	213/375	A/S	Gct/Tct		1		-1	ADIPOR1	HGNC	HGNC:24040	protein_coding	YES	CCDS1430.1	ENSP00000341785	Q96A54		UPI000003779A	NM_015999.5,NM_001290553.1,NM_001290557.1,NM_001290629.1	tolerated(0.18)		6/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF40,Pfam_domain:PF03006																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	26	202943926	202943926	C	A	1	0	0	0	0	1	0	0	0	391	710	25	2		2	ADIPOR1	1	202943926	Missense_Mutation	SNP	C	C3L-01683_TP	132905749	202943926	46012496	3	7924											
EPHA5	0	.	GRCh38	chr4	65336095	65336095	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaatccatggggcttggcaGacgatagccttcctctaccg	9	9	10	13	2	1	1	0	0	1	1	3	2	3	1	4	3	2	2	4	3	3	4			C3L-01683_TP	C3L-01683_NB	G	G																c.2692C>T	p.=	p.L898L	ENST00000622150	16/18	113	107	6	111	111	0	strelka-mutect	EPHA5,synonymous_variant,p.=,ENST00000622150,NM_001281765.1;EPHA5,synonymous_variant,p.=,ENST00000613740,NM_001281766.1;EPHA5,synonymous_variant,p.=,ENST00000273854,NM_004439.6;EPHA5,synonymous_variant,p.=,ENST00000511294,NM_001281767.1;EPHA5,synonymous_variant,p.=,ENST00000432638,;EPHA5,synonymous_variant,p.=,ENST00000354839,NM_182472.3;	A	ENST00000622150	Transcript	synonymous_variant	3445/8421	2692/3117	898/1038	L	Ctg/Ttg	COSM4848483	1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1			16/18		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17,SMART_domains:SM00219,Superfamily_domains:SSF56112											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	26	65336095	65336095	G	A	1	0	0	0	0	0	0	0	1	5017	933	33	3		3	EPHA5	4	65336095	Silent	SNP	G	C3L-01683_TP		65336095	124878460	4	7925											
PGRMC2	0	.	GRCh38	chr4	128287547	128287547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgcccgccccggccccggCccccagaccccgccgccccc	2	1	9	29	6	0	1	0	0	0	1	1	1	0	1	12	2	0	0	12	2	0	0	novel		C3L-01683_TP	C3L-01683_NB	C	C																c.316G>C	p.Ala106Pro	p.A106P	ENST00000520121	1/3	100	92	8	103	103	0	varscan-mutect	PGRMC2,missense_variant,p.Ala106Pro,ENST00000520121,NM_006320.4;PGRMC2,missense_variant,p.Ala106Pro,ENST00000613358,;PGRMC2,missense_variant,p.Ala82Pro,ENST00000296425,;PGRMC2,intron_variant,,ENST00000512483,;PGRMC2,upstream_gene_variant,,ENST00000503872,;PGRMC2,upstream_gene_variant,,ENST00000503588,;PGRMC2,upstream_gene_variant,,ENST00000509070,;	G	ENST00000520121	Transcript	missense_variant	1283/3785	316/744	106/247	A/P	Gcc/Ccc		1		-1	PGRMC2	HGNC	HGNC:16089	protein_coding	YES	CCDS3739.2	ENSP00000429301	O15173		UPI00001B2483	NM_006320.4	tolerated(0.31)		1/3		hmmpanther:PTHR10281,hmmpanther:PTHR10281:SF24,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1274446167	.												G	3	3	26	128287547	128287547	C	G	1	0	0	0	0	1	0	0	0	11896	739	26	4		4	PGRMC2	4	128287547	Missense_Mutation	SNP	C	C3L-01683_TP	62951452	128287547	61927008	5	7926											
PCDHGA1	0	.	GRCh38	chr5	141332211	141332211	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacctctccatcaactcCgacactggggtcctgtatgc	7	10	8	16	1	2	0	1	0	1	0	5	1	4	0	5	2	3	1	5	2	3	2	rs761988261		C3L-01683_TP	C3L-01683_NB	C	C																c.1527C>A	p.=	p.S509S	ENST00000517417	1/4	207	196	11	276	276	0	strelka-varscan-mutect	PCDHGA1,synonymous_variant,p.=,ENST00000517417,NM_018912.2;PCDHGA1,synonymous_variant,p.=,ENST00000378105,NM_031993.1;AC005618.6,downstream_gene_variant,,ENST00000606901,;AC005618.6,downstream_gene_variant,,ENST00000606674,;	A	ENST00000517417	Transcript	synonymous_variant	1527/4604	1527/2796	509/931	S	tcC/tcA	rs761988261,COSM1434347,COSM1434348	1		1	PCDHGA1	HGNC	HGNC:8696	protein_coding	YES	CCDS54922.1	ENSP00000431083	Q9Y5H4		UPI0000070596	NM_018912.2			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF108,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs761988261	.												A	2	1	26	141332211	141332211	C	A	1	0	0	0	0	0	0	0	1	11637	639	23	1		1	PCDHGA1	5	141332211	Silent	SNP	C	C3L-01683_TP		141332211	40206048	6	7927											
MICAL1	0	.	GRCh38	chr6	109449472	109449472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggctagcacatcatacaGgtctcgtacctaaggcagcc	10	9	9	13	1	2	0	1	0	1	0	3	0	2	0	2	3	4	4	2	3	4	5	novel		C3L-01683_TP	C3L-01683_NB	G	G																c.1501C>A	p.Leu501Met	p.L501M	ENST00000630715	11/25	314	293	21	343	343	0	strelka-varscan-mutect	MICAL1,missense_variant,p.Leu501Met,ENST00000630715,NM_001286613.1;MICAL1,missense_variant,p.Leu482Met,ENST00000358807,NM_022765.3;MICAL1,missense_variant,p.Leu396Met,ENST00000358577,NM_001159291.1;MICAL1,missense_variant,p.Leu47Met,ENST00000433205,;MICAL1,downstream_gene_variant,,ENST00000431946,;MICAL1,downstream_gene_variant,,ENST00000483856,;MICAL1,non_coding_transcript_exon_variant,,ENST00000465904,;MICAL1,non_coding_transcript_exon_variant,,ENST00000456101,;	T	ENST00000630715	Transcript	missense_variant	1792/3678	1501/3261	501/1086	L/M	Ctg/Atg		1		-1	MICAL1	HGNC	HGNC:20619	protein_coding	YES	CCDS69170.1	ENSP00000486901	Q8TDZ2		UPI0002064DFD	NM_001286613.1	deleterious(0.01)		11/25		hmmpanther:PTHR11915,Superfamily_domains:SSF47576																	MODERATE	1	SNV	2			1										PASS		rs1036164647	.												T	3	4	26	109449472	109449472	G	T	1	0	0	0	0	1	0	0	0	9526	991	35	2		2	MICAL1	6	109449472	Missense_Mutation	SNP	G	C3L-01683_TP		109449472	61356507	7	7928											
POM121L12	0	.	GRCh38	chr7	53036406	53036406	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcctcggcccctggagcctCagtttttgtgatgatgcttg	5	13	12	11	1	1	2	1	2	0	0	2	3	1	3	4	2	3	2	4	2	0	3			C3L-01683_TP	C3L-01683_NB	C	C																c.735C>G	p.=	p.L245L	ENST00000408890	1/1	153	145	8	197	197	0	strelka-varscan-mutect	POM121L12,synonymous_variant,p.=,ENST00000408890,NM_182595.3;	G	ENST00000408890	Transcript	synonymous_variant	765/1283	735/891	245/296	L	ctC/ctG	COSM1313175	1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3			1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30											1						LOW	1	SNV			1	1										PASS		.	.												G	2	3	26	53036406	53036406	C	G	1	0	0	0	0	0	0	0	1	12352	813	29	4		4	POM121L12	7	53036406	Silent	SNP	C	C3L-01683_TP		53036406	106309567	8	7929											
NOLC1	0	.	GRCh38	chr10	102159538	102159538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctccagtgacgaggaagagGagcaaaaaaaacccatgaaa	19	3	10	9	1	0	3	0	2	0	1	1	6	1	5	3	2	2	1	3	2	6	0	novel		C3L-01683_TP	C3L-01683_NB	G	G																c.859G>A	p.Glu287Lys	p.E287K	ENST00000405356	7/13	149	141	8	156	155	1	varscan-mutect	NOLC1,missense_variant,p.Glu287Lys,ENST00000405356,NM_001284388.1;NOLC1,missense_variant,p.Glu277Lys,ENST00000605788,NM_004741.4;NOLC1,missense_variant,p.Glu286Lys,ENST00000370007,;NOLC1,missense_variant,p.Glu278Lys,ENST00000488254,NM_001284389.1;NOLC1,missense_variant,p.Glu258Lys,ENST00000476468,;NOLC1,missense_variant,p.Glu170Lys,ENST00000461421,;NOLC1,upstream_gene_variant,,ENST00000477977,;NOLC1,3_prime_UTR_variant,,ENST00000603946,;NOLC1,3_prime_UTR_variant,,ENST00000464969,;	A	ENST00000405356	Transcript	missense_variant	1094/3967	859/2130	287/709	E/K	Gag/Aag		1		1	NOLC1	HGNC	HGNC:15608	protein_coding	YES	CCDS65926.1	ENSP00000385410	Q14978		UPI0000366713	NM_001284388.1	tolerated_low_confidence(0.09)		7/13		Low_complexity_(Seg):seg,hmmpanther:PTHR23216																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	26	102159538	102159538	G	A	1	0	0	0	0	1	0	0	0	10573	1175	41	3		3	NOLC1	10	102159538	Missense_Mutation	SNP	G	C3L-01683_TP		102159538	31637884	9	7930											
FAT3	0	.	GRCh38	chr11	92801216	92801216	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccctgaggattttgcccAgtcagaatgtctggttcagc	9	11	10	11	0	3	2	2	1	1	1	3	3	3	3	2	2	2	1	2	2	1	3	rs752304576		C3L-01683_TP	C3L-01683_NB	A	A																c.7753A>T	p.Ser2585Cys	p.S2585C	ENST00000525166	9/27	153	145	8	187	187	0	strelka-varscan-mutect	FAT3,missense_variant,p.Ser2735Cys,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Ser2585Cys,ENST00000525166,;	T	ENST00000525166	Transcript	missense_variant	7775/18699	7753/13320	2585/4439	S/C	Agt/Tgt	rs752304576	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		deleterious(0.04)		9/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		rs752304576	.												T	3	4	26	92801216	92801216	A	T	1	0	0	0	0	1	0	0	0	5551	188	7	4		4	FAT3	11	92801216	Missense_Mutation	SNP	A	C3L-01683_TP		92801216	42285406	10	7931											
PIGB	0	.	GRCh38	chr15	55329731	55329731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttttcttagtttttttGccagttgtgctcctggttca	4	22	7	8	0	2	0	1	0	1	0	3	0	3	0	2	1	3	4	2	1	2	9	novel		C3L-01683_TP	C3L-01683_NB	G	G																c.530G>T	p.Cys177Phe	p.C177F	ENST00000164305	5/12	85	77	8	112	112	0	varscan-mutect	PIGB,missense_variant,p.Cys177Phe,ENST00000164305,NM_004855.4;PIGB,missense_variant,p.Cys178Phe,ENST00000539642,;PIGB,missense_variant,p.Cys168Phe,ENST00000566999,;PIGB,downstream_gene_variant,,ENST00000566072,;PIGB,missense_variant,p.Leu57Phe,ENST00000565367,;PIGB,3_prime_UTR_variant,,ENST00000570059,;	T	ENST00000164305	Transcript	missense_variant	821/2172	530/1665	177/554	C/F	tGc/tTc		1		1	PIGB	HGNC	HGNC:8959	protein_coding	YES	CCDS61641.1	ENSP00000164305	Q92521		UPI0000072A05	NM_004855.4	deleterious(0)		5/12		Pfam_domain:PF03901,hmmpanther:PTHR22760,hmmpanther:PTHR22760:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	26	55329731	55329731	G	T	1	0	0	0	0	1	0	0	0	11979	1319	46	2		2	PIGB	15	55329731	Missense_Mutation	SNP	G	C3L-01683_TP		55329731	46661458	11	7932											
CCDC33	0	.	GRCh38	chr15	74244063	74244063	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacctgtctccctctaagAaggagaccatcatggtcacc	10	9	8	14	0	5	2	3	0	2	2	6	3	5	2	4	2	0	0	4	2	2	1	rs199782040		C3L-01683_TP	C3L-01683_NB	A	A																c.100A>G	p.Lys34Glu	p.K34E	ENST00000398814	2/19	75	69	6	79	79	0	varscan-mutect	CCDC33,missense_variant,p.Lys34Glu,ENST00000398814,NM_025055.4;CCDC33,missense_variant,p.Lys252Glu,ENST00000635913,;	G	ENST00000398814	Transcript	missense_variant	531/2787	100/2268	34/755	K/E	Aag/Gag	rs199782040	1		1	CCDC33	HGNC	HGNC:26552	protein_coding	YES	CCDS42058.1	ENSP00000381795	Q8N5R6		UPI0000E671FE	NM_025055.4	deleterious(0)		2/19		hmmpanther:PTHR21623,hmmpanther:PTHR21623:SF3,Gene3D:2.60.40.150,Superfamily_domains:SSF49562																	MODERATE	1	SNV	2			1										PASS		rs199782040	.												G	3	3	26	74244063	74244063	A	G	1	0	0	0	0	1	0	0	0	2516	247	9	5		5	CCDC33	15	74244063	Missense_Mutation	SNP	A	C3L-01683_TP	18914332	74244063	27747126	12	7933											
ABCA5	0	.	GRCh38	chr17	69302897	69302897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaggtgtcagcattaaagCaaaaaatacctataaaatac	21	8	6	6	0	1	1	1	0	0	1	1	1	1	1	1	1	4	2	1	1	11	5	novel		C3L-01683_TP	C3L-01683_NB	C	C																c.940G>T	p.Ala314Ser	p.A314S	ENST00000392676	8/39	60	56	4	73	73	0	varscan-mutect	ABCA5,missense_variant,p.Ala314Ser,ENST00000392676,NM_172232.3;ABCA5,missense_variant,p.Ala314Ser,ENST00000588877,NM_018672.4;ABCA5,missense_variant,p.Ala314Ser,ENST00000593153,;ABCA5,downstream_gene_variant,,ENST00000589975,;ABCA5,upstream_gene_variant,,ENST00000586995,;ABCA5,downstream_gene_variant,,ENST00000593253,;ABCA5,downstream_gene_variant,,ENST00000587607,;	A	ENST00000392676	Transcript	missense_variant	1005/8220	940/4929	314/1642	A/S	Gct/Tct		1		-1	ABCA5	HGNC	HGNC:35	protein_coding	YES	CCDS11685.1	ENSP00000376443	Q8WWZ7		UPI000013DD9E	NM_172232.3	tolerated(0.67)		8/39		Transmembrane_helices:TMhelix,hmmpanther:PTHR19229:SF100,hmmpanther:PTHR19229,Pfam_domain:PF12698																	MODERATE	1	SNV	1			1										PASS		rs1212081749	.												A	3	1	26	69302897	69302897	C	A	1	0	0	0	0	1	0	0	0	39	710	25	2		2	ABCA5	17	69302897	Missense_Mutation	SNP	C	C3L-01683_TP		69302897	13954544	13	7934											
SULT2A1	0	.	GRCh38	chr19	47874835	47874835	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatggttcttcctgtgtcCtaaaaaagaaaaatcaagag	15	12	7	7	0	3	2	1	0	2	2	5	2	5	2	2	1	0	1	2	1	7	4	rs760732288		C3L-01683_TP	C3L-01683_NB	C	C																c.568-1G>T		p.X190_splice	ENST00000222002		77	71	6	113	112	1	varscan-mutect	SULT2A1,splice_acceptor_variant,,ENST00000222002,NM_003167.3;	A	ENST00000222002	Transcript	splice_acceptor_variant	-/1987	568/858	190/285			rs760732288	1		-1	SULT2A1	HGNC	HGNC:11458	protein_coding	YES	CCDS12707.1	ENSP00000222002	Q06520	A8K015	UPI000013C7E8	NM_003167.3				4/5																		HIGH	1	SNV	1			1										PASS		rs760732288	.												A	5	1	26	47874835	47874835	C	A	1	0	0	0	0	0	0	1	0	15767	695	24	2		2	SULT2A1	19	47874835	Splice_Site	SNP	C	C3L-01683_TP		47874835	10742781	14	7935											
GGT7	0	.	GRCh38	chr20	34863436	34863436	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcactcggccgctgcggcGgagaacgggtctttgcgcgt	5	7	17	12	7	1	1	0	0	1	1	2	3	1	1	1	4	4	2	1	4	1	1	novel		C3L-01683_TP	C3L-01683_NB	G	G																c.282C>A	p.=	p.S94S	ENST00000336431	2/15	272	257	15	270	270	0	strelka-mutect	GGT7,synonymous_variant,p.=,ENST00000336431,NM_178026.2;GGT7,synonymous_variant,p.=,ENST00000427420,;	T	ENST00000336431	Transcript	synonymous_variant	327/2642	282/1989	94/662	S	tcC/tcA		1		-1	GGT7	HGNC	HGNC:4259	protein_coding	YES	CCDS13242.2	ENSP00000338964	Q9UJ14		UPI000004C2AB	NM_178026.2			2/15		hmmpanther:PTHR11686:SF20,hmmpanther:PTHR11686																	LOW	1	SNV	1			1										PASS		rs972812335	.												T	2	4	26	34863436	34863436	G	T	1	0	0	0	0	0	0	0	1	6241	1103	39	1		1	GGT7	20	34863436	Silent	SNP	G	C3L-01683_TP		34863436	29580731	15	7936											
DMD	0	.	GRCh38	chrX	31169575	31169575	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcaaactttggcagtaaTgctggattaacaaatgttca	13	13	9	6	0	2	0	2	0	0	0	2	1	2	1	0	3	3	5	0	3	4	5	novel		C3L-01683_TP	C3L-01683_NB	T	T																c.10421A>C	p.His3474Pro	p.H3474P	ENST00000357033	74/79	113	105	8	149	148	1	strelka-varscan-mutect	DMD,missense_variant,p.His3474Pro,ENST00000357033,NM_000109.3,NM_004006.2;DMD,missense_variant,p.His3470Pro,ENST00000378677,NM_004010.3,NM_004009.3;DMD,missense_variant,p.His3473Pro,ENST00000620040,;DMD,missense_variant,p.His3469Pro,ENST00000619831,;DMD,missense_variant,p.His1014Pro,ENST00000378707,NM_004013.2;DMD,missense_variant,p.His1001Pro,ENST00000359836,NM_004022.2;DMD,missense_variant,p.His1157Pro,ENST00000358062,;DMD,missense_variant,p.His745Pro,ENST00000343523,NM_004014.2;DMD,missense_variant,p.His1014Pro,ENST00000474231,NM_004021.2;DMD,missense_variant,p.His406Pro,ENST00000378723,NM_004016.2;DMD,missense_variant,p.His406Pro,ENST00000378702,NM_004015.2,NM_004017.2;DMD,missense_variant,p.His393Pro,ENST00000361471,NM_004018.2;DMD,intron_variant,,ENST00000541735,NM_004020.3,NM_004023.2;DMD,intron_variant,,ENST00000378680,;DMD,downstream_gene_variant,,ENST00000378705,;DMD,upstream_gene_variant,,ENST00000481143,;	G	ENST00000357033	Transcript	missense_variant	10628/13956	10421/11058	3474/3685	H/P	cAt/cCt		1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2	deleterious(0.01)		74/79		hmmpanther:PTHR11915:SF261,hmmpanther:PTHR11915,PIRSF_domain:PIRSF002341																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	26	31169575	31169575	T	G	1	0	0	0	0	1	0	0	0	4387	1464	51	5		5	DMD	23	31169575	Missense_Mutation	SNP	T	C3L-01683_TP		31169575	124871320	16	7937											
SYTL5	0	.	GRCh38	chrX	38089521	38089521	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcagtcggagcaatggTgtgaccccaggcactcagag	12	5	14	10	1	1	3	1	1	0	2	2	4	1	4	2	3	2	3	2	3	2	0	novel		C3L-01683_TP	C3L-01683_NB	T	T																c.765T>C	p.=	p.G255G	ENST00000456733	6/17	117	110	7	126	126	0	strelka-varscan-mutect	SYTL5,synonymous_variant,p.=,ENST00000297875,NM_138780.2,NM_001163335.1;SYTL5,synonymous_variant,p.=,ENST00000456733,NM_001163334.1;RP5-972B16.2,intron_variant,,ENST00000465127,;	C	ENST00000456733	Transcript	synonymous_variant	1121/4704	765/2259	255/752	G	ggT/ggC		1		1	SYTL5	HGNC	HGNC:15589	protein_coding	YES	CCDS55399.1	ENSP00000395220	Q8TDW5		UPI0000F0599F	NM_001163334.1			6/17		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF13																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	26	38089521	38089521	T	C	1	0	0	0	0	0	0	0	1	15880	1683	59	5		5	SYTL5	23	38089521	Silent	SNP	T	C3L-01683_TP	6919946	38089521	117951374	17	7938											
MAGEA8	0	.	GRCh38	chrX	149884989	149884989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatgatgggagggagcaCagtgtctattggaagctcag	10	10	15	6	0	2	1	1	1	1	0	2	4	2	4	0	3	2	3	0	3	3	3	novel		C3L-01683_TP	C3L-01683_NB	C	C																c.717C>A	p.His239Gln	p.H239Q	ENST00000535454	4/4	53	48	5	57	57	0	strelka-varscan-mutect	MAGEA8,missense_variant,p.His239Gln,ENST00000535454,NM_001166400.1;MAGEA8,missense_variant,p.His239Gln,ENST00000542674,NM_001166401.1;MAGEA8,missense_variant,p.His239Gln,ENST00000286482,NM_005364.4;MAGEA8-AS1,upstream_gene_variant,,ENST00000427671,;MAGEA8,downstream_gene_variant,,ENST00000493910,;MAGEA8,downstream_gene_variant,,ENST00000345830,;	A	ENST00000535454	Transcript	missense_variant	1266/2112	717/957	239/318	H/Q	caC/caA		1		1	MAGEA8	HGNC	HGNC:6806	protein_coding	YES	CCDS14692.1	ENSP00000438293	P43361		UPI0000071C79	NM_001166400.1	deleterious(0.04)		4/4		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF65,Pfam_domain:PF01454,SMART_domains:SM01373																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	26	149884989	149884989	C	A	1	0	0	0	0	1	0	0	0	9086	477	17	2		2	MAGEA8	23	149884989	Missense_Mutation	SNP	C	C3L-01683_TP	111795468	149884989	6155906	18	7939											
PANK4	0	.	GRCh38	chr1	2520387	2520387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaatggagctgccgccgaCccactcgaacctgtcctccg	7	7	9	18	4	0	0	0	0	0	0	4	3	3	1	7	1	3	1	7	1	2	0	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.658G>T	p.Val220Phe	p.V220F	ENST00000378466	5/19	201	168	33	176	176	0	strelka-varscan-mutect	PANK4,missense_variant,p.Val220Phe,ENST00000378466,NM_018216.2;PANK4,missense_variant,p.Val176Phe,ENST00000435556,;PANK4,downstream_gene_variant,,ENST00000491212,;PANK4,missense_variant,p.Val70Phe,ENST00000505228,;PANK4,3_prime_UTR_variant,,ENST00000486396,;PANK4,downstream_gene_variant,,ENST00000502770,;PANK4,upstream_gene_variant,,ENST00000468002,;PANK4,downstream_gene_variant,,ENST00000514922,;PANK4,upstream_gene_variant,,ENST00000515423,;	A	ENST00000378466	Transcript	missense_variant	675/2677	658/2346	220/781	V/F	Gtc/Ttc		1		-1	PANK4	HGNC	HGNC:19366	protein_coding	YES		ENSP00000367727	Q9NVE7		UPI0001AE783E	NM_018216.2	deleterious(0)		5/19		hmmpanther:PTHR12280,Pfam_domain:PF03630,TIGRFAM_domain:TIGR00555,PIRSF_domain:PIRSF036939,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	2520387	2520387	C	A	1	0	0	0	0	1	0	0	0	11500	507	18	2		2	PANK4	1	2520387	Missense_Mutation	SNP	C	C3L-01862_TP		2520387	246436035	1	7940											
SPEN	0	.	GRCh38	chr1	15933146	15933146	+	Frame_Shift_Del	DEL	A	A	-																															acagataccaaggaagccagAggaaatagcagtgaaacctc																								novel		C3L-01862_TP	C3L-01862_NB	A	A																c.6906delA	p.Gly2303GlufsTer50	p.G2303Efs*50	ENST00000375759	11/15	181	153	28	276	276	0	sindel-varindel-pindel	SPEN,frameshift_variant,p.Gly2303GlufsTer50,ENST00000375759,NM_015001.2;	-	ENST00000375759	Transcript	frameshift_variant	7110/12232	6906/10995	2302/3664	R/X	agA/ag		1		1	SPEN	HGNC	HGNC:17575	protein_coding	YES	CCDS164.1	ENSP00000364912	Q96T58		UPI000006FF0C	NM_015001.2			11/15		hmmpanther:PTHR23189:SF48,hmmpanther:PTHR23189																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	27	15933146	15933146	A	-	1	0	1	0	1	0	0	0	0	15389	301	11	0		0	SPEN	1	15933146	Frame_Shift_Del	DEL	A	C3L-01862_TP	13412759	15933146	233023276	2	7941											
ARHGEF19	0	.	GRCh38	chr1	16207102	16207102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttggcccgcggcggccccGgcccctcctctgcgccctcg	0	6	14	21	6	1	0	0	0	1	0	3	0	2	0	7	5	1	1	7	5	0	1	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.983C>T	p.Pro328Leu	p.P328L	ENST00000270747	6/16	105	90	15	97	97	0	strelka-varscan-mutect	ARHGEF19,missense_variant,p.Pro328Leu,ENST00000270747,NM_153213.3;ARHGEF19,upstream_gene_variant,,ENST00000449495,;ARHGEF19,upstream_gene_variant,,ENST00000441785,;ARHGEF19,upstream_gene_variant,,ENST00000478117,;ARHGEF19,upstream_gene_variant,,ENST00000478210,;ARHGEF19,upstream_gene_variant,,ENST00000471928,;	A	ENST00000270747	Transcript	missense_variant	1120/3029	983/2409	328/802	P/L	cCg/cTg		1		-1	ARHGEF19	HGNC	HGNC:26604	protein_coding	YES	CCDS170.1	ENSP00000270747	Q8IW93		UPI0000074533	NM_153213.3	tolerated(0.11)		6/16		Low_complexity_(Seg):seg,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	16207102	16207102	G	A	1	0	0	0	0	1	0	0	0	1032	1116	39	1		1	ARHGEF19	1	16207102	Missense_Mutation	SNP	G	C3L-01862_TP	273956	16207102	232749320	3	7942											
GRIK3	0	.	GRCh38	chr1	36872199	36872199	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgcacctgcttgaggaTctgggccgccatagtgtggc	6	9	13	13	2	2	1	1	1	1	0	2	2	2	2	3	3	1	2	3	3	1	2	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.721A>G	p.Ile241Val	p.I241V	ENST00000373091	4/16	41	28	13	37	37	0	strelka-varscan-mutect	GRIK3,missense_variant,p.Ile241Val,ENST00000373091,NM_000831.3;GRIK3,missense_variant,p.Ile241Val,ENST00000373093,;	C	ENST00000373091	Transcript	missense_variant	738/9101	721/2760	241/919	I/V	Atc/Gtc		1		-1	GRIK3	HGNC	HGNC:4581	protein_coding	YES	CCDS416.1	ENSP00000362183	Q13003		UPI000013E311	NM_000831.3	tolerated(0.55)		4/16		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF174,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	27	36872199	36872199	T	C	1	0	0	0	0	1	0	0	0	6657	1435	50	5		5	GRIK3	1	36872199	Missense_Mutation	SNP	T	C3L-01862_TP	20665097	36872199	212084223	4	7943											
ZNF684	0	.	GRCh38	chr1	40546965	40546965	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcataatggagagagaccCtttgtgtgcaatgattgtgg	11	13	12	5	0	1	3	1	1	0	2	1	5	1	3	1	2	1	1	1	2	2	4	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.642C>G	p.=	p.P214P	ENST00000372699	5/5	133	112	21	186	186	0	strelka-varscan-mutect	ZNF684,synonymous_variant,p.=,ENST00000372699,NM_152373.3;ZNF684,downstream_gene_variant,,ENST00000372697,;ZNF684,downstream_gene_variant,,ENST00000372696,;ZNF684,non_coding_transcript_exon_variant,,ENST00000493756,;ZNF684,downstream_gene_variant,,ENST00000465152,;ZNF684,downstream_gene_variant,,ENST00000472043,;	G	ENST00000372699	Transcript	synonymous_variant	893/2097	642/1137	214/378	P	ccC/ccG		1		1	ZNF684	HGNC	HGNC:28418	protein_coding	YES	CCDS454.1	ENSP00000361784	Q5T5D7		UPI00000437E3	NM_152373.3			5/5		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF0,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	27	40546965	40546965	C	G	1	0	0	0	0	0	0	0	1	18664	668	24	4		4	ZNF684	1	40546965	Silent	SNP	C	C3L-01862_TP	3674766	40546965	208409457	5	7944											
ZNF684	0	.	GRCh38	chr1	40547248	40547248	+	Missense_Mutation	SNP	G	G	T																															tcatatgtggcaaagcttttGgcaacacatccgtgcttgtt																								rs752531951		C3L-01862_TP	C3L-01862_NB	G	G																c.925G>T	p.Gly309Cys	p.G309C	ENST00000372699	5/5	311	285	26	416	415	1	strelka-varscan-mutect	ZNF684,missense_variant,p.Gly309Cys,ENST00000372699,NM_152373.3;ZNF684,downstream_gene_variant,,ENST00000372697,;ZNF684,downstream_gene_variant,,ENST00000372696,;ZNF684,non_coding_transcript_exon_variant,,ENST00000493756,;ZNF684,downstream_gene_variant,,ENST00000465152,;ZNF684,downstream_gene_variant,,ENST00000472043,;	T	ENST00000372699	Transcript	missense_variant	1176/2097	925/1137	309/378	G/C	Ggc/Tgc	rs752531951	1		1	ZNF684	HGNC	HGNC:28418	protein_coding	YES	CCDS454.1	ENSP00000361784	Q5T5D7		UPI00000437E3	NM_152373.3	tolerated(0.2)		5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF0,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs752531951	.												T	3	4	27	40547248	40547248	G	T	1	0	0	0	0	1	0	0	0	18664	1348	47	2		2	ZNF684	1	40547248	Missense_Mutation	SNP	G	C3L-01862_TP	283	40547248	208409174	6	7945	182	2									
ZNF684	0	.	GRCh38	chr1	40547249	40547249	+	Missense_Mutation	SNP	G	G	T																															catatgtggcaaagcttttgGcaacacatccgtgcttgtta																								novel		C3L-01862_TP	C3L-01862_NB	G	G																c.926G>T	p.Gly309Val	p.G309V	ENST00000372699	5/5	312	285	27	413	412	1	strelka-varscan-mutect	ZNF684,missense_variant,p.Gly309Val,ENST00000372699,NM_152373.3;ZNF684,downstream_gene_variant,,ENST00000372697,;ZNF684,downstream_gene_variant,,ENST00000372696,;ZNF684,non_coding_transcript_exon_variant,,ENST00000493756,;ZNF684,downstream_gene_variant,,ENST00000465152,;ZNF684,downstream_gene_variant,,ENST00000472043,;	T	ENST00000372699	Transcript	missense_variant	1177/2097	926/1137	309/378	G/V	gGc/gTc		1		1	ZNF684	HGNC	HGNC:28418	protein_coding	YES	CCDS454.1	ENSP00000361784	Q5T5D7		UPI00000437E3	NM_152373.3	tolerated(0.37)		5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF0,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1161518385	.												T	3	4	27	40547249	40547249	G	T	1	0	0	0	0	1	0	0	0	18664	1203	42	2		2	ZNF684	1	40547249	Missense_Mutation	SNP	G	C3L-01862_TP	1	40547249	208409173	7	7946	182	2									
DMRTA2	0	.	GRCh38	chr1	50421504	50421504	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgtcgccgcgccGggcacgctgggcagctccga	3	3	16	19	9	0	0	0	0	0	0	2	1	1	0	6	2	1	4	6	2	0	0	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.33C>A	p.=	p.P11P	ENST00000404795	2/3	37	30	7	56	56	0	strelka-mutect	DMRTA2,synonymous_variant,p.=,ENST00000404795,NM_032110.2;DMRTA2,synonymous_variant,p.=,ENST00000418121,;	T	ENST00000404795	Transcript	synonymous_variant	426/3137	33/1629	11/542	P	ccC/ccA		1		-1	DMRTA2	HGNC	HGNC:13908	protein_coding	YES	CCDS44141.1	ENSP00000383909	Q96SC8		UPI00003D7962	NM_032110.2			2/3		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	27	50421504	50421504	G	T	1	0	0	0	0	0	0	0	1	4396	1103	39	1		1	DMRTA2	1	50421504	Silent	SNP	G	C3L-01862_TP	9874255	50421504	198534918	8	7947											
MROH7	0	.	GRCh38	chr1	54665167	54665167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgaaatcgtgccctgcagGagcctttgatgaagtgacct	10	11	11	9	1	0	4	0	4	0	0	1	5	0	5	3	1	3	1	3	1	2	2	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.1232G>T	p.Gly411Val	p.G411V	ENST00000421030	4/24	145	129	16	117	117	0	strelka-varscan-mutect	MROH7,missense_variant,p.Gly411Val,ENST00000421030,NM_001039464.3;MROH7,missense_variant,p.Gly411Val,ENST00000339553,;MROH7,missense_variant,p.Gly411Val,ENST00000395690,;MROH7,splice_region_variant,,ENST00000409996,NM_001291332.1;MROH7,splice_region_variant,,ENST00000478097,;MROH7,downstream_gene_variant,,ENST00000472987,;MROH7-TTC4,missense_variant,p.Gly436Val,ENST00000425300,;MROH7-TTC4,missense_variant,p.Gly411Val,ENST00000414150,;MROH7-TTC4,missense_variant,p.Gly411Val,ENST00000606515,;MROH7,missense_variant,p.Gly411Val,ENST00000413188,;MROH7,missense_variant,p.Gly411Val,ENST00000422659,;MROH7,missense_variant,p.Gly411Val,ENST00000440047,;MROH7,missense_variant,p.Gly411Val,ENST00000438846,;MROH7,splice_region_variant,,ENST00000440217,;	T	ENST00000421030	Transcript	missense_variant,splice_region_variant	1517/4329	1232/3972	411/1323	G/V	gGa/gTa		1		1	MROH7	HGNC	HGNC:24802	protein_coding	YES	CCDS41342.2	ENSP00000396622	Q68CQ1		UPI000198C4E2	NM_001039464.3	deleterious_low_confidence(0)		4/24																			MODERATE	1	SNV	2			1										PASS		rs1161473803	.												T	3	4	27	54665167	54665167	G	T	1	0	0	0	0	1	0	0	0	9747	1188	41	2		2	MROH7	1	54665167	Missense_Mutation	SNP	G	C3L-01862_TP	4243663	54665167	194291255	9	7948											
MROH7	0	.	GRCh38	chr1	54674145	54674145	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacactattctggagctcCaaaaacgtaagccctatcgg	12	10	7	12	2	2	0	0	0	2	0	4	1	3	1	2	2	4	2	2	2	6	5	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.1930C>T	p.Gln644Ter	p.Q644*	ENST00000421030	10/24	107	88	19	88	88	0	strelka-varscan-mutect	MROH7,stop_gained,p.Gln644Ter,ENST00000421030,NM_001039464.3;MROH7,stop_gained,p.Gln644Ter,ENST00000339553,;MROH7,stop_gained,p.Gln644Ter,ENST00000395690,;MROH7,stop_gained,p.Gln212Ter,ENST00000409996,NM_001291332.1;MROH7,downstream_gene_variant,,ENST00000478097,;MROH7-TTC4,stop_gained,p.Gln644Ter,ENST00000414150,;MROH7,stop_gained,p.Gln644Ter,ENST00000440047,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000425300,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000606515,;MROH7,3_prime_UTR_variant,,ENST00000413188,;MROH7,3_prime_UTR_variant,,ENST00000422659,;MROH7,3_prime_UTR_variant,,ENST00000438846,;MROH7,3_prime_UTR_variant,,ENST00000440217,;	T	ENST00000421030	Transcript	stop_gained	2215/4329	1930/3972	644/1323	Q/*	Caa/Taa		1		1	MROH7	HGNC	HGNC:24802	protein_coding	YES	CCDS41342.2	ENSP00000396622	Q68CQ1		UPI000198C4E2	NM_001039464.3			10/24		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF17,Superfamily_domains:SSF48371																	HIGH	1	SNV	2			1										PASS		rs1446614517	.												T	4	4	27	54674145	54674145	C	T	1	0	0	0	0	0	1	0	0	9747	595	21	3		3	MROH7	1	54674145	Nonsense_Mutation	SNP	C	C3L-01862_TP	8978	54674145	194282277	10	7949											
USP33	0	.	GRCh38	chr1	77717989	77717989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggaaatgaaacatgggtaCtgattttggtggaaaacatt	14	11	12	4	1	0	2	0	2	0	0	0	4	0	4	0	4	3	1	0	4	5	4	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.1889G>T	p.Ser630Ile	p.S630I	ENST00000370793	18/25	156	143	13	167	167	0	strelka-varscan-mutect	USP33,missense_variant,p.Ser630Ile,ENST00000370793,NM_015017.4;USP33,missense_variant,p.Ser599Ile,ENST00000370794,NM_201624.2;USP33,missense_variant,p.Ser630Ile,ENST00000357428,;USP33,missense_variant,p.Ser622Ile,ENST00000370792,NM_201626.2;USP33,missense_variant,p.Ser235Ile,ENST00000481579,;USP33,missense_variant,p.Ser47Ile,ENST00000527390,;USP33,non_coding_transcript_exon_variant,,ENST00000461986,;USP33,non_coding_transcript_exon_variant,,ENST00000498328,;USP33,non_coding_transcript_exon_variant,,ENST00000531637,;USP33,upstream_gene_variant,,ENST00000477949,;USP33,downstream_gene_variant,,ENST00000462192,;USP33,upstream_gene_variant,,ENST00000472462,;	A	ENST00000370793	Transcript	missense_variant	2236/4502	1889/2829	630/942	S/I	aGt/aTt		1		-1	USP33	HGNC	HGNC:20059	protein_coding	YES	CCDS678.1	ENSP00000359829	Q8TEY7		UPI000022ABDA	NM_015017.4	deleterious(0.02)		18/25		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	77717989	77717989	C	A	1	0	0	0	0	1	0	0	0	17606	565	20	2		2	USP33	1	77717989	Missense_Mutation	SNP	C	C3L-01862_TP	23043844	77717989	171238433	11	7950											
COL11A1	0	.	GRCh38	chr1	102935112	102935112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctgggggaccgggagggCcctgcagtgagataaaaata	12	5	16	8	1	0	1	0	1	0	1	0	5	0	3	3	4	1	1	3	4	4	2	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.3440G>T	p.Gly1147Val	p.G1147V	ENST00000370096	45/67	277	235	42	272	272	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Gly1159Val,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Gly1147Val,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Gly1108Val,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Gly1031Val,ENST00000512756,NM_080630.3;COL11A1,splice_region_variant,,ENST00000635193,;	A	ENST00000370096	Transcript	missense_variant,splice_region_variant	3753/7286	3440/5421	1147/1806	G/V	gGc/gTc		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0.03)		45/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	102935112	102935112	C	A	1	0	0	0	0	1	0	0	0	3455	753	26	2		2	COL11A1	1	102935112	Missense_Mutation	SNP	C	C3L-01862_TP	25217123	102935112	146021310	12	7951											
CSDE1	0	.	GRCh38	chr1	114719744	114719744	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagttaatgaagccaaacTgaaaaaaaaaagtaggtaaa	23	7	7	4	0	0	2	0	2	0	0	0	2	0	2	1	1	2	3	1	1	12	4	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.2191-2A>T		p.X731_splice	ENST00000610726		72	65	7	84	83	1	varscan-mutect	CSDE1,splice_acceptor_variant,,ENST00000610726,NM_001242891.1;CSDE1,splice_acceptor_variant,,ENST00000438362,;CSDE1,splice_acceptor_variant,,ENST00000358528,NM_001007553.2;CSDE1,splice_acceptor_variant,,ENST00000339438,NM_007158.5;CSDE1,splice_acceptor_variant,,ENST00000369530,NM_001130523.2;CSDE1,splice_acceptor_variant,,ENST00000530886,;CSDE1,splice_acceptor_variant,,ENST00000261443,NM_001242893.1;CSDE1,splice_acceptor_variant,,ENST00000534699,NM_001242892.1;NRAS,upstream_gene_variant,,ENST00000369535,NM_002524.4;CSDE1,upstream_gene_variant,,ENST00000483407,;CSDE1,downstream_gene_variant,,ENST00000483030,;CSDE1,downstream_gene_variant,,ENST00000530784,;	A	ENST00000610726	Transcript	splice_acceptor_variant	-/4312	2191/2535	731/844				1		-1	CSDE1	HGNC	HGNC:29905	protein_coding	YES	CCDS55626.1	ENSP00000481762	O75534		UPI0000D99B0F	NM_001242891.1				18/20																		HIGH		SNV	5			1										PASS		rs1373368599	.												A	5	1	27	114719744	114719744	T	A	1	0	0	0	0	0	0	1	0	3730	1594	55	4		4	CSDE1	1	114719744	Splice_Site	SNP	T	C3L-01862_TP	11784632	114719744	134236678	13	7952											
SEMA6C	0	.	GRCh38	chr1	151135603	151135603	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcctcaccgggcagggctgTaggcatcaatctcttccagg	7	8	13	13	1	3	0	2	0	1	0	5	0	4	0	3	5	0	4	3	5	2	2	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.1421A>G	p.Tyr474Cys	p.Y474C	ENST00000368913	14/20	131	82	49	104	104	0	strelka-varscan-mutect	SEMA6C,missense_variant,p.Tyr474Cys,ENST00000341697,;SEMA6C,missense_variant,p.Tyr474Cys,ENST00000368914,NM_030913.4;SEMA6C,missense_variant,p.Tyr474Cys,ENST00000368913,NM_001178061.1;SEMA6C,missense_variant,p.Tyr434Cys,ENST00000368912,NM_001178062.1;SEMA6C,splice_region_variant,,ENST00000613223,;SEMA6C,intron_variant,,ENST00000621728,;RP11-68I18.10,upstream_gene_variant,,ENST00000563624,;SEMA6C,upstream_gene_variant,,ENST00000479820,;SEMA6C,upstream_gene_variant,,ENST00000464018,;SEMA6C,upstream_gene_variant,,ENST00000489944,;SEMA6C,downstream_gene_variant,,ENST00000485745,;	C	ENST00000368913	Transcript	missense_variant	1550/3817	1421/2889	474/962	Y/C	tAc/tGc		1		-1	SEMA6C	HGNC	HGNC:10740	protein_coding	YES	CCDS53364.1	ENSP00000357909	Q9H3T2		UPI00001414D0	NM_001178061.1	deleterious(0)		14/20		PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF11,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	27	151135603	151135603	T	C	1	0	0	0	0	1	0	0	0	14317	1652	57	5		5	SEMA6C	1	151135603	Missense_Mutation	SNP	T	C3L-01862_TP	36415859	151135603	97820819	14	7953											
OLFML2B	0	.	GRCh38	chr1	162000308	162000308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttgatctgctgggacaCggtttcttcctgcagaaacc	8	11	12	10	1	2	2	0	1	2	1	3	4	3	4	2	3	3	4	2	3	1	3	rs750492409		C3L-01862_TP	C3L-01862_NB	C	C																c.757G>A	p.Val253Met	p.V253M	ENST00000367940	5/8	214	178	36	138	138	0	strelka-varscan-mutect	OLFML2B,missense_variant,p.Val252Met,ENST00000294794,NM_015441.2;OLFML2B,missense_variant,p.Val253Met,ENST00000367940,NM_001297713.1;	T	ENST00000367940	Transcript	missense_variant	967/2685	757/2256	253/751	V/M	Gtg/Atg	rs750492409,COSM898637	1		-1	OLFML2B	HGNC	HGNC:24558	protein_coding	YES	CCDS72966.1	ENSP00000356917		F2Z3N3	UPI0001AE79B2	NM_001297713.1	tolerated(0.11)		5/8		hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs750492409	.												T	3	4	27	162000308	162000308	C	T	1	0	0	0	0	1	0	0	0	10933	536	19	1		1	OLFML2B	1	162000308	Missense_Mutation	SNP	C	C3L-01862_TP	10864705	162000308	86956114	15	7954											
CREG1	0	.	GRCh38	chr1	167553444	167553444	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaaatagggcacgccgcTgcccgcgcccgggggcccgt	6	4	16	15	6	0	1	0	0	0	1	0	1	0	1	4	3	1	3	4	3	3	2	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.298A>T	p.Ser100Cys	p.S100C	ENST00000370509	1/4	123	109	14	84	84	0	strelka-varscan-mutect	CREG1,missense_variant,p.Ser100Cys,ENST00000370509,NM_003851.2;	A	ENST00000370509	Transcript	missense_variant	324/1974	298/663	100/220	S/C	Agc/Tgc		1		-1	CREG1	HGNC	HGNC:2351	protein_coding	YES	CCDS1262.1	ENSP00000359540	O75629		UPI0000047822	NM_003851.2	deleterious(0)		1/4		hmmpanther:PTHR13343:SF12,hmmpanther:PTHR13343,Gene3D:2.30.110.10,PIRSF_domain:PIRSF036911,Pfam_domain:PF13883,Superfamily_domains:SSF50475																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	167553444	167553444	T	A	1	0	0	0	0	1	0	0	0	3665	1580	55	4		4	CREG1	1	167553444	Missense_Mutation	SNP	T	C3L-01862_TP	5553136	167553444	81402978	16	7955											
DDX59	0	.	GRCh38	chr1	200650456	200650456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaataattttttctttttgGctgggtcttctacccacaaa	10	17	5	9	0	3	0	0	0	3	0	3	0	3	0	1	2	1	1	1	2	4	8	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.1283C>A	p.Ala428Asp	p.A428D	ENST00000331314	5/8	160	151	9	153	151	2	varscan-mutect	DDX59,missense_variant,p.Ala428Asp,ENST00000447706,;DDX59,missense_variant,p.Ala428Asp,ENST00000331314,NM_001031725.4;DDX59,missense_variant,p.Ala66Asp,ENST00000413408,;DDX59,missense_variant,p.Ala71Asp,ENST00000433235,;DDX59,missense_variant,p.Ala71Asp,ENST00000453944,;DDX59,intron_variant,,ENST00000429498,;DDX59,upstream_gene_variant,,ENST00000452560,;	T	ENST00000331314	Transcript	missense_variant	1497/2289	1283/1860	428/619	A/D	gCc/gAc		1		-1	DDX59	HGNC	HGNC:25360	protein_coding	YES	CCDS30964.1	ENSP00000330460	Q5T1V6		UPI00001AFE4C	NM_001031725.4	deleterious(0.02)		5/8		PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF42,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	200650456	200650456	G	T	1	0	0	0	0	1	0	0	0	4179	1203	42	2		2	DDX59	1	200650456	Missense_Mutation	SNP	G	C3L-01862_TP	33097012	200650456	48305966	17	7956											
OPTC	0	.	GRCh38	chr1	203496231	203496231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagattatggggaccaactcCccgaggtgagggacacagca	12	5	13	11	1	0	2	0	1	0	1	1	5	1	4	3	4	2	1	3	4	2	1	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.226C>T	p.Pro76Ser	p.P76S	ENST00000367222	2/8	671	581	90	489	489	0	strelka-varscan-mutect	OPTC,missense_variant,p.Pro76Ser,ENST00000367222,NM_014359.3;OPTC,missense_variant,p.Pro76Ser,ENST00000448911,;PRELP,downstream_gene_variant,,ENST00000343110,NM_002725.3,NM_201348.1;	T	ENST00000367222	Transcript	missense_variant	342/1359	226/999	76/332	P/S	Ccc/Tcc		1		1	OPTC	HGNC	HGNC:8158	protein_coding	YES	CCDS1439.1	ENSP00000356191	Q9UBM4		UPI00000015D9	NM_014359.3	tolerated(0.16)		2/8		hmmpanther:PTHR24370																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	203496231	203496231	C	T	1	0	0	0	0	1	0	0	0	10964	637	22	3		3	OPTC	1	203496231	Missense_Mutation	SNP	C	C3L-01862_TP	2845775	203496231	45460191	18	7957											
LYPLAL1	0	.	GRCh38	chr1	219173958	219173958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggaggcatagcgcctCtctgatcttcctgcatggct	6	10	13	12	1	2	1	0	1	2	0	4	2	3	2	2	4	2	4	2	4	1	2	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.68C>A	p.Ser23Tyr	p.S23Y	ENST00000366928	1/5	309	196	113	218	218	0	strelka-varscan-mutect	LYPLAL1,missense_variant,p.Ser23Tyr,ENST00000366928,NM_001300772.1,NM_001300771.1,NM_138794.4;LYPLAL1,missense_variant,p.Ser23Tyr,ENST00000366927,NM_001300770.1;LYPLAL1-AS1,non_coding_transcript_exon_variant,,ENST00000441331,;LYPLAL1,non_coding_transcript_exon_variant,,ENST00000483635,;LYPLAL1,non_coding_transcript_exon_variant,,ENST00000463964,;LYPLAL1,non_coding_transcript_exon_variant,,ENST00000477938,;LYPLAL1,non_coding_transcript_exon_variant,,ENST00000460522,;LYPLAL1,non_coding_transcript_exon_variant,,ENST00000474379,;LYPLAL1,non_coding_transcript_exon_variant,,ENST00000496776,;LYPLAL1,upstream_gene_variant,,ENST00000469590,;LYPLAL1,upstream_gene_variant,,ENST00000478794,;	A	ENST00000366928	Transcript	missense_variant	115/1898	68/714	23/237	S/Y	tCt/tAt		1		1	LYPLAL1	HGNC	HGNC:20440	protein_coding	YES	CCDS1522.1	ENSP00000355895	Q5VWZ2		UPI000013D8ED	NM_001300772.1,NM_001300771.1,NM_138794.4	deleterious(0)		1/5		Gene3D:3.40.50.1820,Pfam_domain:PF02230,hmmpanther:PTHR10655,hmmpanther:PTHR10655:SF27,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	219173958	219173958	C	A	1	0	0	0	0	1	0	0	0	9030	913	32	2		2	LYPLAL1	1	219173958	Missense_Mutation	SNP	C	C3L-01862_TP	15677727	219173958	29782464	19	7958											
LEFTY1	0	.	GRCh38	chr1	225888986	225888986	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgccgcagcaggctgcccagGagctgctccccggtcagggc	5	5	15	16	2	1	0	1	0	0	0	2	1	2	1	4	4	5	5	4	4	0	0	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.81C>T	p.=	p.L27L	ENST00000272134	1/4	73	68	5	71	71	0	strelka-varscan-mutect	LEFTY1,synonymous_variant,p.=,ENST00000272134,NM_020997.3;RP4-559A3.7,intron_variant,,ENST00000432920,;LEFTY1,intron_variant,,ENST00000492457,;	A	ENST00000272134	Transcript	synonymous_variant	161/1626	81/1101	27/366	L	ctC/ctT		1		-1	LEFTY1	HGNC	HGNC:6552	protein_coding	YES	CCDS1548.1	ENSP00000272134	O75610		UPI000003721B	NM_020997.3			1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR11848:SF167,hmmpanther:PTHR11848,PIRSF_domain:PIRSF037402,Prints_domain:PR01427																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	27	225888986	225888986	G	A	1	0	0	0	0	0	0	0	1	8623	1161	41	3		3	LEFTY1	1	225888986	Silent	SNP	G	C3L-01862_TP	6715028	225888986	23067436	20	7959											
PGBD5	0	.	GRCh38	chr1	230337154	230337154	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcaggctggtgatgctgggCcccgtgaaaatgatgtagtt	8	11	15	7	1	1	3	1	3	0	0	1	3	1	3	2	3	1	4	2	3	3	2	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.1029G>T	p.=	p.G343G	ENST00000391860	4/7	248	150	98	163	163	0	strelka-varscan-mutect	PGBD5,synonymous_variant,p.=,ENST00000391860,NM_001258311.1;PGBD5,synonymous_variant,p.=,ENST00000525115,;PGBD5,upstream_gene_variant,,ENST00000530424,;	A	ENST00000391860	Transcript	synonymous_variant	1472/10961	1029/1575	343/524	G	ggG/ggT		1		-1	PGBD5	HGNC	HGNC:19405	protein_coding	YES		ENSP00000375733		A0A0A0MS21	UPI000004EBDA	NM_001258311.1			4/7		hmmpanther:PTHR28576,hmmpanther:PTHR28576:SF2,Pfam_domain:PF13843																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	27	230337154	230337154	C	A	1	0	0	0	0	0	0	0	1	11874	726	26	2		2	PGBD5	1	230337154	Silent	SNP	C	C3L-01862_TP	4448168	230337154	18619268	21	7960											
RYR2	0	.	GRCh38	chr1	237614556	237614556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcatgcccgggacccaGttggagggactactgaattc	8	10	12	11	1	2	1	1	1	1	0	3	4	2	4	2	3	2	1	2	3	2	4	rs754364233		C3L-01862_TP	C3L-01862_NB	G	G																c.5428G>T	p.Val1810Phe	p.V1810F	ENST00000366574	37/105	440	378	62	425	424	1	strelka-varscan-mutect	RYR2,missense_variant,p.Val1810Phe,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Val1794Phe,ENST00000360064,;	T	ENST00000366574	Transcript	missense_variant	5745/16562	5428/14904	1810/4967	V/F	Gtt/Ttt	rs754364233,CM122155	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		37/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1		0,1	1										PASS		rs754364233	.												T	3	4	27	237614556	237614556	G	T	1	0	0	0	0	1	0	0	0	14029	1029	36	2		2	RYR2	1	237614556	Missense_Mutation	SNP	G	C3L-01862_TP	7277402	237614556	11341866	22	7961											
RYR2	0	.	GRCh38	chr1	237732107	237732107	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagttgatcctctacatcAgctgatccttctgtttagtc	8	15	8	10	0	3	3	1	2	2	1	6	4	5	3	2	0	2	3	2	0	2	5	novel		C3L-01862_TP	C3L-01862_NB	A	A																c.10997A>T	p.Gln3666Leu	p.Q3666L	ENST00000366574	78/105	174	146	28	153	153	0	strelka-varscan-mutect	RYR2,missense_variant,p.Gln3666Leu,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Gln3650Leu,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;RYR2,downstream_gene_variant,,ENST00000609253,;	T	ENST00000366574	Transcript	missense_variant	11314/16562	10997/14904	3666/4967	Q/L	cAg/cTg		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0.01)		78/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	237732107	237732107	A	T	1	0	0	0	0	1	0	0	0	14029	188	7	4		4	RYR2	1	237732107	Missense_Mutation	SNP	A	C3L-01862_TP	117551	237732107	11224315	23	7962											
FMN2	0	.	GRCh38	chr1	240092380	240092380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaaggggaaaggcgccGgcggctcccgcgaagatgta	9	5	16	11	5	0	1	0	0	0	1	2	3	2	2	3	5	0	2	3	5	4	1	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.271G>T	p.Gly91Cys	p.G91C	ENST00000319653	1/18	146	78	68	143	143	0	strelka-varscan-mutect	FMN2,missense_variant,p.Gly91Cys,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,intron_variant,,ENST00000447095,;	T	ENST00000319653	Transcript	missense_variant	501/6434	271/5169	91/1722	G/C	Ggc/Tgc		1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4	tolerated_low_confidence(0.14)		1/18																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	27	240092380	240092380	G	T	1	0	0	0	0	1	0	0	0	5806	1116	39	1		1	FMN2	1	240092380	Missense_Mutation	SNP	G	C3L-01862_TP	2360273	240092380	8864042	24	7963											
OR14C36	0	.	GRCh38	chr1	248349037	248349037	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caattccctactggacagcaCcaccatttctaaggcgggat	11	9	8	13	1	1	0	0	0	1	0	2	2	2	2	3	3	2	1	3	3	3	4	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.263C>A	p.Thr88Asn	p.T88N	ENST00000317861	1/1	272	168	104	263	263	0	strelka-varscan-mutect	OR14C36,missense_variant,p.Thr88Asn,ENST00000317861,NM_001001918.1;	A	ENST00000317861	Transcript	missense_variant	263/939	263/939	88/312	T/N	aCc/aAc		1		1	OR14C36	HGNC	HGNC:15026	protein_coding	YES	CCDS31112.1	ENSP00000324534	Q8NHC7		UPI0000041CB1	NM_001001918.1	tolerated(0.06)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF180,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	27	248349037	248349037	C	A	1	0	0	0	0	1	0	0	0	11023	507	18	2		2	OR14C36	1	248349037	Missense_Mutation	SNP	C	C3L-01862_TP	8256657	248349037	607385	25	7964											
CAD	0	.	GRCh38	chr2	27235271	27235271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttctccttctcccgcttGgcgggtgctgacgtggtgtt	2	14	13	12	3	2	1	0	1	2	0	4	1	2	1	2	3	1	4	2	3	0	4			C3L-01862_TP	C3L-01862_NB	G	G																c.3813G>T	p.Leu1271Phe	p.L1271F	ENST00000264705	24/44	97	75	22	95	95	0	strelka-varscan-mutect	CAD,missense_variant,p.Leu1271Phe,ENST00000264705,NM_004341.3;CAD,missense_variant,p.Leu1208Phe,ENST00000403525,NM_001306079.1;CAD,upstream_gene_variant,,ENST00000456311,;CAD,upstream_gene_variant,,ENST00000458503,;CAD,downstream_gene_variant,,ENST00000464159,;CAD,upstream_gene_variant,,ENST00000491461,;CAD,non_coding_transcript_exon_variant,,ENST00000479002,;CAD,upstream_gene_variant,,ENST00000487239,;CAD,downstream_gene_variant,,ENST00000475695,;CAD,downstream_gene_variant,,ENST00000491891,;	T	ENST00000264705	Transcript	missense_variant	3975/7265	3813/6678	1271/2225	L/F	ttG/ttT	COSM290431	1		1	CAD	HGNC	HGNC:1424	protein_coding	YES	CCDS1742.1	ENSP00000264705	P27708		UPI000013D558	NM_004341.3	deleterious(0)		24/44		Gene3D:3.30.470.20,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF5,Superfamily_domains:SSF56059,TIGRFAM_domain:TIGR01369											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	27	27235271	27235271	G	T	1	0	0	0	0	1	0	0	0	2255	1339	47	2		2	CAD	2	27235271	Missense_Mutation	SNP	G	C3L-01862_TP		27235271	214958258	26	7965											
EML6	0	.	GRCh38	chr2	54894922	54894922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgccttcacagggctttgTaacaggtggaaaggacggca	10	9	14	8	1	1	0	1	0	0	0	1	2	1	2	1	5	2	3	1	5	2	3	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.2750T>C	p.Val917Ala	p.V917A	ENST00000356458	19/41	154	116	38	163	163	0	strelka-varscan-mutect	EML6,missense_variant,p.Val917Ala,ENST00000356458,NM_001039753.2;	C	ENST00000356458	Transcript	missense_variant	3270/8320	2750/5877	917/1958	V/A	gTa/gCa		1		1	EML6	HGNC	HGNC:35412	protein_coding	YES	CCDS46286.1	ENSP00000348842	Q6ZMW3		UPI00006C0432	NM_001039753.2	tolerated(0.06)		19/41		PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF8,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	27	54894922	54894922	T	C	1	0	0	0	0	1	0	0	0	4944	1638	57	5		5	EML6	2	54894922	Missense_Mutation	SNP	T	C3L-01862_TP	27659651	54894922	187298607	27	7966											
CCDC85A	0	.	GRCh38	chr2	56375830	56375830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaagggttcttttaggttGtcatcaggggctgatgggag	8	13	15	5	0	3	1	2	1	1	0	3	2	3	2	0	5	0	3	0	5	2	5	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.1467G>T	p.Leu489Phe	p.L489F	ENST00000407595	5/6	217	186	31	264	263	1	strelka-varscan-mutect	CCDC85A,missense_variant,p.Leu489Phe,ENST00000407595,NM_001080433.1;RP11-482H16.1,intron_variant,,ENST00000607540,;	T	ENST00000407595	Transcript	missense_variant	1969/3982	1467/1662	489/553	L/F	ttG/ttT		1		1	CCDC85A	HGNC	HGNC:29400	protein_coding	YES	CCDS46290.1	ENSP00000384040	Q96PX6		UPI00001C1DC1	NM_001080433.1	tolerated_low_confidence(0.09)		5/6																			MODERATE	1	SNV	1			1										PASS		rs1310275422	.												T	3	4	27	56375830	56375830	G	T	1	0	0	0	0	1	0	0	0	2557	1368	48	2		2	CCDC85A	2	56375830	Missense_Mutation	SNP	G	C3L-01862_TP	1480908	56375830	185817699	28	7967											
KIF5C	0	.	GRCh38	chr2	149010330	149010330	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggccaagaacatggccagaAgggcccattcagcccagatc	12	4	12	13	0	1	3	1	0	0	3	2	3	1	3	4	3	2	0	4	3	3	1	novel		C3L-01862_TP	C3L-01862_NB	A	A																c.2746A>T	p.Arg916Trp	p.R916W	ENST00000435030	24/26	82	67	15	96	95	1	strelka-varscan-mutect	KIF5C,missense_variant,p.Arg916Trp,ENST00000435030,NM_004522.2;KIF5C,non_coding_transcript_exon_variant,,ENST00000464066,;KIF5C,non_coding_transcript_exon_variant,,ENST00000482151,;	T	ENST00000435030	Transcript	missense_variant	3114/6931	2746/2874	916/957	R/W	Agg/Tgg		1		1	KIF5C	HGNC	HGNC:6325	protein_coding	YES	CCDS74586.1	ENSP00000393379	O60282		UPI000012DDB7	NM_004522.2	deleterious(0)		24/26		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF380																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	149010330	149010330	A	T	1	0	0	0	0	1	0	0	0	8172	63	3	4		4	KIF5C	2	149010330	Missense_Mutation	SNP	A	C3L-01862_TP	92634500	149010330	93183199	29	7968											
SCN9A	0	.	GRCh38	chr2	166199071	166199071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgaacgaagagaatcCatctccccactctcacccaa	13	8	5	15	1	3	2	1	1	3	1	6	4	4	2	4	0	1	0	4	0	4	0	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.5535G>A	p.Met1845Ile	p.M1845I	ENST00000409672	27/27	296	249	47	411	410	1	strelka-varscan-mutect	SCN9A,missense_variant,p.Met1856Ile,ENST00000303354,;SCN9A,missense_variant,p.Met1845Ile,ENST00000409672,NM_002977.3;SCN9A,missense_variant,p.Met1856Ile,ENST00000409435,;AC010127.3,intron_variant,,ENST00000447809,;	T	ENST00000409672	Transcript	missense_variant	5882/9768	5535/5934	1845/1977	M/I	atG/atA		1		-1	SCN9A	HGNC	HGNC:10597	protein_coding	YES	CCDS46441.1	ENSP00000386306	Q15858		UPI0000140AC7	NM_002977.3	deleterious(0)		27/27		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF221																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	27	166199071	166199071	C	T	1	0	0	0	0	1	0	0	0	14194	594	21	3		3	SCN9A	2	166199071	Missense_Mutation	SNP	C	C3L-01862_TP	17188741	166199071	75994458	30	7969											
DYNC1I2	0	.	GRCh38	chr2	171728391	171728391	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatggaaaaatttgttcatgGagtctggacatgctttccca	11	13	10	7	0	2	0	1	0	1	0	3	4	3	3	1	3	1	2	1	3	2	3	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.1230G>A	p.Trp410Ter	p.W410*	ENST00000397119	13/18	93	81	12	117	116	1	varscan-mutect	DYNC1I2,stop_gained,p.Trp410Ter,ENST00000397119,NM_001378.2;DYNC1I2,stop_gained,p.Trp384Ter,ENST00000340296,NM_001271788.1;DYNC1I2,stop_gained,p.Trp410Ter,ENST00000409773,NM_001271785.1;DYNC1I2,stop_gained,p.Trp384Ter,ENST00000409197,NM_001271789.1;DYNC1I2,stop_gained,p.Trp410Ter,ENST00000409453,;DYNC1I2,stop_gained,p.Trp384Ter,ENST00000508530,NM_001271790.1;DYNC1I2,stop_gained,p.Trp404Ter,ENST00000409317,;DYNC1I2,stop_gained,p.Trp402Ter,ENST00000410079,NM_001271786.1,NM_001271787.1;DYNC1I2,downstream_gene_variant,,ENST00000435234,;DYNC1I2,downstream_gene_variant,,ENST00000452242,;DYNC1I2,downstream_gene_variant,,ENST00000438879,;DYNC1I2,downstream_gene_variant,,ENST00000456808,;DYNC1I2,downstream_gene_variant,,ENST00000425485,;DYNC1I2,downstream_gene_variant,,ENST00000423910,;DYNC1I2,downstream_gene_variant,,ENST00000422646,;DYNC1I2,non_coding_transcript_exon_variant,,ENST00000482454,;DYNC1I2,non_coding_transcript_exon_variant,,ENST00000479806,;DYNC1I2,downstream_gene_variant,,ENST00000470286,;DYNC1I2,downstream_gene_variant,,ENST00000445378,;	A	ENST00000397119	Transcript	stop_gained	1397/2604	1230/1917	410/638	W/*	tgG/tgA		1		1	DYNC1I2	HGNC	HGNC:2964	protein_coding	YES	CCDS46450.1	ENSP00000380308	Q13409	A0A140VKE9	UPI0000129A05	NM_001378.2			13/18		PROSITE_profiles:PS50294,hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF36,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	27	171728391	171728391	G	A	1	0	0	0	0	0	1	0	0	4667	1183	41	3		3	DYNC1I2	2	171728391	Nonsense_Mutation	SNP	G	C3L-01862_TP	5529320	171728391	70465138	31	7970											
GPR155	0	.	GRCh38	chr2	174453766	174453766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaaggaatcacaggctcaCtggtgcttgtgtttgctatt	9	13	11	8	1	2	0	2	0	0	0	2	2	2	1	0	3	2	4	0	3	3	4	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.1847G>C	p.Ser616Thr	p.S616T	ENST00000392552	11/16	162	129	33	170	170	0	strelka-varscan-mutect	GPR155,missense_variant,p.Ser588Thr,ENST00000614352,NM_001267051.1;GPR155,missense_variant,p.Ser616Thr,ENST00000392552,NM_152529.6;GPR155,missense_variant,p.Ser616Thr,ENST00000392551,NM_001267050.1;GPR155,missense_variant,p.Ser616Thr,ENST00000295500,NM_001033045.3;	G	ENST00000392552	Transcript	missense_variant	2086/6730	1847/2613	616/870	S/T	aGt/aCt		1		-1	GPR155	HGNC	HGNC:22951	protein_coding	YES	CCDS2259.1	ENSP00000376335	Q7Z3F1		UPI000013E262	NM_152529.6	tolerated(0.66)		11/16		hmmpanther:PTHR22829																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	27	174453766	174453766	C	G	1	0	0	0	0	1	0	0	0	6546	565	20	4		4	GPR155	2	174453766	Missense_Mutation	SNP	C	C3L-01862_TP	2725375	174453766	67739763	32	7971											
TTN	0	.	GRCh38	chr2	178557443	178557443	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctgtctttcatttccagGtgatagcctacgactgcact	7	16	7	11	1	3	1	1	1	2	0	4	2	4	1	2	1	3	1	2	1	2	5	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.87819C>T	p.=	p.H29273H	ENST00000589042	329/363	637	534	103	667	667	0	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.4;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.3,non_coding_transcript_exon_variant,,ENST00000624360,;	A	ENST00000589042	Transcript	synonymous_variant	88044/109224	87819/107976	29273/35991	H	caC/caT		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			329/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW		SNV	5			1										PASS		.	.												A	2	1	27	178557443	178557443	G	A	1	0	0	0	0	0	0	0	1	17245	1252	44	3		3	TTN	2	178557443	Silent	SNP	G	C3L-01862_TP	4103677	178557443	63636086	33	7972											
COL3A1	0	.	GRCh38	chr2	188998276	188998276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctttctagggcttgcctgGtacaggtggtcctccaggag	5	13	13	10	0	2	0	0	0	2	0	4	1	4	1	3	5	2	2	3	5	2	5	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.1934G>T	p.Gly645Val	p.G645V	ENST00000304636	28/51	285	245	40	302	302	0	strelka-varscan-mutect	COL3A1,missense_variant,p.Gly645Val,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Gly645Val,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000450867,;COL3A1,downstream_gene_variant,,ENST00000637672,;	T	ENST00000304636	Transcript	missense_variant	2104/5543	1934/4401	645/1466	G/V	gGt/gTt		1		1	COL3A1	HGNC	HGNC:2201	protein_coding	YES	CCDS2297.1	ENSP00000304408	P02461		UPI0000456EBA	NM_000090.3	deleterious(0)		28/51		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	188998276	188998276	G	T	1	0	0	0	0	1	0	0	0	3477	1261	44	2		2	COL3A1	2	188998276	Missense_Mutation	SNP	G	C3L-01862_TP	10440833	188998276	53195253	34	7973											
SLC11A1	0	.	GRCh38	chr2	218382373	218382373	+	Frame_Shift_Del	DEL	C	C	-																															tgaagtcggcatttcaatgaCaggtgagtagtggcccctag																								rs551043157		C3L-01862_TP	C3L-01862_NB	C	C																c.5delC	p.Thr2LysfsTer9	p.T2Kfs*9	ENST00000233202	1/15	109	95	14	95	95	0	sindel-varindel-pindel	SLC11A1,frameshift_variant,p.Thr2LysfsTer9,ENST00000233202,NM_000578.3;SLC11A1,frameshift_variant,p.Thr2LysfsTer9,ENST00000354352,;SLC11A1,frameshift_variant,p.Thr2LysfsTer378,ENST00000539932,;SLC11A1,frameshift_variant,p.Thr2LysfsTer9,ENST00000473367,;SLC11A1,frameshift_variant,p.Thr2LysfsTer?,ENST00000481524,;SLC11A1,splice_region_variant,,ENST00000468221,;SLC11A1,splice_region_variant,,ENST00000465984,;SLC11A1,splice_region_variant,,ENST00000494322,;SLC11A1,splice_region_variant,,ENST00000475225,;SLC11A1,splice_region_variant,,ENST00000492413,;SLC11A1,splice_region_variant,,ENST00000469799,;SLC11A1,splice_region_variant,,ENST00000471875,;SLC11A1,upstream_gene_variant,,ENST00000469449,;SLC11A1,upstream_gene_variant,,ENST00000483487,;SLC11A1,upstream_gene_variant,,ENST00000460592,;	-	ENST00000233202	Transcript	frameshift_variant,splice_region_variant	345/3852	5/1653	2/550	T/X	aCa/aa	rs551043157	1		1	SLC11A1	HGNC	HGNC:10907	protein_coding	YES	CCDS2415.1	ENSP00000233202	P49279	A0A024R474	UPI0000130520	NM_000578.3			1/15																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	27	218382373	218382373	C	-	1	0	1	0	1	0	0	0	0	14645	492	17	0		0	SLC11A1	2	218382373	Frame_Shift_Del	DEL	C	C3L-01862_TP	29384097	218382373	23811156	35	7974											
RBMS3	0	.	GRCh38	chr3	29739865	29739865	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatggagtcagcagaggtgTtggctttgccaggtaaaatt	11	12	13	5	0	1	1	1	0	0	1	1	2	1	2	1	4	2	4	1	4	3	5	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.545T>A	p.Val182Asp	p.V182D	ENST00000383767	5/15	77	64	13	80	79	1	varscan-mutect	RBMS3,missense_variant,p.Val181Asp,ENST00000434693,;RBMS3,missense_variant,p.Val181Asp,ENST00000383766,NM_001003792.2;RBMS3,missense_variant,p.Val182Asp,ENST00000383767,NM_001003793.2;RBMS3,missense_variant,p.Val248Asp,ENST00000636680,;RBMS3,missense_variant,p.Val182Asp,ENST00000273139,NM_014483.3;RBMS3,missense_variant,p.Val182Asp,ENST00000452462,NM_001177711.1;RBMS3,missense_variant,p.Val182Asp,ENST00000456853,NM_001177712.1;RBMS3,missense_variant,p.Val182Asp,ENST00000445033,;RBMS3,downstream_gene_variant,,ENST00000478716,;RP11-9J18.1,3_prime_UTR_variant,,ENST00000635992,;RBMS3,3_prime_UTR_variant,,ENST00000637842,;RBMS3,non_coding_transcript_exon_variant,,ENST00000497205,;	A	ENST00000383767	Transcript	missense_variant	881/1864	545/1314	182/437	V/D	gTt/gAt		1		1	RBMS3	HGNC	HGNC:13427	protein_coding	YES	CCDS33724.1	ENSP00000373277	Q6XE24		UPI000023FE75	NM_001003793.2	deleterious(0.03)		5/15		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF473,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	29739865	29739865	T	A	1	0	0	0	0	1	0	0	0	13316	1725	60	4		4	RBMS3	3	29739865	Missense_Mutation	SNP	T	C3L-01862_TP		29739865	168555694	36	7975											
BSN	0	.	GRCh38	chr3	49663333	49663333	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgacagcaagaagggctcCcggcaagcccactccgggcc	9	4	12	16	2	1	2	0	1	1	1	3	2	3	2	4	3	2	3	4	3	3	0	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.11175C>A	p.=	p.S3725S	ENST00000296452	7/12	365	310	55	348	348	0	strelka-varscan-mutect	BSN,synonymous_variant,p.=,ENST00000296452,NM_003458.3;	A	ENST00000296452	Transcript	synonymous_variant	11289/15955	11175/11781	3725/3926	S	tcC/tcA		1		1	BSN	HGNC	HGNC:1117	protein_coding	YES	CCDS2800.1	ENSP00000296452	Q9UPA5		UPI000013E33C	NM_003458.3			7/12		hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	27	49663333	49663333	C	A	1	0	0	0	0	0	0	0	1	1704	610	22	2		2	BSN	3	49663333	Silent	SNP	C	C3L-01862_TP	19923468	49663333	148632226	37	7976											
IQCF3	0	.	GRCh38	chr3	51830539	51830539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgattcagtgctggtggaGgacgttggtgcagagacgga	9	9	18	5	2	1	2	1	1	0	1	1	7	1	5	0	5	2	3	0	5	0	2	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.203G>A	p.Arg68Lys	p.R68K	ENST00000456080	8/8	136	116	20	143	143	0	strelka-varscan-mutect	IQCF3,missense_variant,p.Arg68Lys,ENST00000456080,;IQCF3,missense_variant,p.Arg68Lys,ENST00000437810,NM_001085479.2;IQCF3,missense_variant,p.Arg68Lys,ENST00000446775,NM_001207023.1;IQCF3,missense_variant,p.Arg68Lys,ENST00000440739,;IQCF3,synonymous_variant,p.=,ENST00000444293,;IQCF3,non_coding_transcript_exon_variant,,ENST00000462079,;IQCF3,downstream_gene_variant,,ENST00000472485,;IQCF3,downstream_gene_variant,,ENST00000474242,;IQCF3,downstream_gene_variant,,ENST00000465028,;	A	ENST00000456080	Transcript	missense_variant	1368/1685	203/465	68/154	R/K	aGg/aAg		1		1	IQCF3	HGNC	HGNC:31816	protein_coding	YES	CCDS46837.1	ENSP00000415609	P0C7M6		UPI000015EE9E		tolerated(0.07)		8/8		Low_complexity_(Seg):seg,hmmpanther:PTHR21633:SF5,hmmpanther:PTHR21633																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	27	51830539	51830539	G	A	1	0	0	0	0	1	0	0	0	7713	1000	35	3		3	IQCF3	3	51830539	Missense_Mutation	SNP	G	C3L-01862_TP	2167206	51830539	146465020	38	7977											
CPB1	0	.	GRCh38	chr3	148841839	148841840	+	Frame_Shift_Del	DEL	AA	AA	-																															ataggttggcaaagctggacAaaataagcctgccattttca																								novel		C3L-01862_TP	C3L-01862_NB	AA	AA																c.493_494delAA	p.Asn165Ter	p.N165*	ENST00000491148	7/12	80	65	15	133	133	0	sindel-varindel-pindel	CPB1,frameshift_variant,p.Asn165Ter,ENST00000491148,;CPB1,frameshift_variant,p.Asn165Ter,ENST00000282957,NM_001871.2;CPB1,frameshift_variant,p.Asn131Ter,ENST00000468341,;CPB1,downstream_gene_variant,,ENST00000462345,;CPB1,non_coding_transcript_exon_variant,,ENST00000484877,;CPB1,downstream_gene_variant,,ENST00000465718,;	-	ENST00000491148	Transcript	frameshift_variant	825-826/1773	491-492/1254	164/417	Q/X	cAA/c		1		1	CPB1	HGNC	HGNC:2299	protein_coding	YES	CCDS33874.1	ENSP00000417222	P15086		UPI00001271CD				7/12		hmmpanther:PTHR11705:SF20,hmmpanther:PTHR11705,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187																	HIGH	1	deletion	5	2		1										PASS		.	.												-	7	5	27	148841839	148841839	AA	-	1	0	1	0	1	0	0	0	0	3590	130	5	0		0	CPB1	3	148841839	Frame_Shift_Del	DEL	AA	C3L-01862_TP	97011300	148841839	49453720	39	7978											
SLITRK3	0	.	GRCh38	chr3	165188931	165188931	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcactggttggtgcccCaataaggtgagaatctccag	10	10	12	9	0	1	2	0	2	1	1	2	3	1	2	3	3	2	2	3	3	3	2	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.1900G>T	p.Gly634Trp	p.G634W	ENST00000475390	2/2	243	213	30	279	278	1	strelka-varscan-mutect	SLITRK3,missense_variant,p.Gly634Trp,ENST00000475390,NM_001318811.1,NM_001318810.1;SLITRK3,missense_variant,p.Gly634Trp,ENST00000241274,NM_014926.2;SLITRK3,downstream_gene_variant,,ENST00000497724,;	A	ENST00000475390	Transcript	missense_variant	2344/4555	1900/2934	634/977	G/W	Ggg/Tgg		1		-1	SLITRK3	HGNC	HGNC:23501	protein_coding	YES	CCDS3197.1	ENSP00000420091	O94933		UPI000004F259	NM_001318811.1,NM_001318810.1	deleterious(0.01)		2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	165188931	165188931	C	A	1	0	0	0	0	1	0	0	0	15035	594	21	2		2	SLITRK3	3	165188931	Missense_Mutation	SNP	C	C3L-01862_TP	16347092	165188931	33106628	40	7979											
SPATA18	0	.	GRCh38	chr4	52079844	52079844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaggagatatgttgcattgCctttgcaatgcaggccttag	9	12	11	9	0	0	1	0	0	0	1	0	2	0	1	3	2	4	4	3	2	3	5	rs766949831		C3L-01862_TP	C3L-01862_NB	C	C																c.1280C>T	p.Ala427Val	p.A427V	ENST00000295213	9/13	288	247	41	285	285	0	strelka-varscan-mutect	SPATA18,missense_variant,p.Ala427Val,ENST00000295213,NM_145263.3;SPATA18,missense_variant,p.Ala395Val,ENST00000419395,NM_001297608.1;SPATA18,downstream_gene_variant,,ENST00000514670,;SPATA18,missense_variant,p.Ala427Val,ENST00000505320,;SPATA18,non_coding_transcript_exon_variant,,ENST00000511028,;SPATA18,non_coding_transcript_exon_variant,,ENST00000510549,;	T	ENST00000295213	Transcript	missense_variant	1654/4396	1280/1617	427/538	A/V	gCc/gTc	rs766949831	1		1	SPATA18	HGNC	HGNC:29579	protein_coding	YES	CCDS3489.1	ENSP00000295213	Q8TC71	A0A140VKF4	UPI000006FB0D	NM_145263.3	deleterious(0)		9/13		Pfam_domain:PF16026,hmmpanther:PTHR21771,hmmpanther:PTHR21771:SF0																	MODERATE	1	SNV	1			1										PASS		rs766949831	.												T	3	4	27	52079844	52079844	C	T	1	0	0	0	0	1	0	0	0	15333	739	26	3		3	SPATA18	4	52079844	Missense_Mutation	SNP	C	C3L-01862_TP		52079844	138134711	41	7980											
SRD5A3	0	.	GRCh38	chr4	55369964	55369964	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggttccacaacttaacttGgtggctagtggtgacaaatg	10	12	12	7	0	0	1	0	1	0	0	1	1	1	1	1	4	2	2	1	4	4	4	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.830G>C	p.Trp277Ser	p.W277S	ENST00000264228	5/5	285	241	44	351	351	0	strelka-varscan-mutect	SRD5A3,missense_variant,p.Trp277Ser,ENST00000264228,NM_024592.4;SRD5A3,missense_variant,p.Trp141Ser,ENST00000505210,;SRD5A3-AS1,intron_variant,,ENST00000433175,;SRD5A3-AS1,intron_variant,,ENST00000510637,;SRD5A3-AS1,intron_variant,,ENST00000595734,;SRD5A3-AS1,intron_variant,,ENST00000596289,;SRD5A3-AS1,intron_variant,,ENST00000609573,;SRD5A3-AS1,intron_variant,,ENST00000609051,;SRD5A3-AS1,intron_variant,,ENST00000596312,;SRD5A3-AS1,intron_variant,,ENST00000598906,;SRD5A3-AS1,intron_variant,,ENST00000608086,;SRD5A3-AS1,intron_variant,,ENST00000608265,;SRD5A3-AS1,intron_variant,,ENST00000609580,;SRD5A3-AS1,intron_variant,,ENST00000609487,;SRD5A3-AS1,intron_variant,,ENST00000608558,;SRD5A3-AS1,intron_variant,,ENST00000595103,;SRD5A3-AS1,intron_variant,,ENST00000619912,;SRD5A3-AS1,intron_variant,,ENST00000609700,;SRD5A3-AS1,intron_variant,,ENST00000609500,;SRD5A3-AS1,intron_variant,,ENST00000613794,;SRD5A3-AS1,downstream_gene_variant,,ENST00000592823,;SRD5A3,non_coding_transcript_exon_variant,,ENST00000514398,;SRD5A3-AS1,intron_variant,,ENST00000610396,;SRD5A3-AS1,intron_variant,,ENST00000619685,;SRD5A3-AS1,downstream_gene_variant,,ENST00000619203,;	C	ENST00000264228	Transcript	missense_variant	1058/4190	830/957	277/318	W/S	tGg/tCg		1		1	SRD5A3	HGNC	HGNC:25812	protein_coding	YES	CCDS3498.1	ENSP00000264228	Q9H8P0		UPI0000043F70	NM_024592.4	deleterious(0)		5/5		Pfam_domain:PF02544,PROSITE_profiles:PS50244,hmmpanther:PTHR14624,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	27	55369964	55369964	G	C	1	0	0	0	0	1	0	0	0	15497	1357	47	4		4	SRD5A3	4	55369964	Missense_Mutation	SNP	G	C3L-01862_TP	3290120	55369964	134844591	42	7981											
AASDH	0	.	GRCh38	chr4	56378449	56378449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagttcaataatgtttcatGaaaagatttaaatttctgtg	15	17	6	3	0	3	2	2	1	1	1	3	2	3	2	0	0	0	2	0	0	7	7	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.367C>T	p.His123Tyr	p.H123Y	ENST00000205214	4/15	85	74	11	133	133	0	strelka-varscan-mutect	AASDH,missense_variant,p.His123Tyr,ENST00000205214,NM_181806.3;AASDH,missense_variant,p.His23Tyr,ENST00000513376,NM_001286668.1;AASDH,missense_variant,p.His123Tyr,ENST00000451613,NM_001286671.1;AASDH,missense_variant,p.His123Tyr,ENST00000502617,NM_001286672.1;AASDH,5_prime_UTR_variant,,ENST00000602986,NM_001286669.1;AASDH,non_coding_transcript_exon_variant,,ENST00000510762,;AASDH,synonymous_variant,p.=,ENST00000503808,;AASDH,intron_variant,,ENST00000514745,NM_001286670.1;AASDH,downstream_gene_variant,,ENST00000510012,;AASDH,downstream_gene_variant,,ENST00000514796,;	A	ENST00000205214	Transcript	missense_variant	548/3590	367/3297	123/1098	H/Y	Cat/Tat		1		-1	AASDH	HGNC	HGNC:23993	protein_coding	YES	CCDS3504.1	ENSP00000205214	Q4L235		UPI000020B8EF	NM_181806.3	tolerated(0.54)		4/15		hmmpanther:PTHR24095:SF185,hmmpanther:PTHR24095,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	56378449	56378449	G	A	1	0	0	0	0	1	0	0	0	26	1290	45	3		3	AASDH	4	56378449	Missense_Mutation	SNP	G	C3L-01862_TP	1008485	56378449	133836106	43	7982											
EPHA5	0	.	GRCh38	chr4	65365080	65365080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactgtcccatgatacttgCttcacctaggaaatctctgc	11	12	6	12	0	2	1	1	1	1	0	4	2	3	2	2	1	4	1	2	1	4	4			C3L-01862_TP	C3L-01862_NB	C	C																c.2176G>A	p.Ala726Thr	p.A726T	ENST00000622150	12/18	221	192	29	282	282	0	strelka-varscan-mutect	EPHA5,missense_variant,p.Ala726Thr,ENST00000622150,NM_001281765.1;EPHA5,missense_variant,p.Ala704Thr,ENST00000613740,NM_001281766.1;EPHA5,missense_variant,p.Ala725Thr,ENST00000273854,NM_004439.6;EPHA5,missense_variant,p.Ala726Thr,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Ala562Thr,ENST00000432638,;EPHA5,missense_variant,p.Ala703Thr,ENST00000354839,NM_182472.3;	T	ENST00000622150	Transcript	missense_variant	2929/8421	2176/3117	726/1038	A/T	Gca/Aca	COSM4125548,COSM4681295	1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1	deleterious(0)		12/18		Gene3D:3.30.200.20,Pfam_domain:PF07714,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17,SMART_domains:SM00219,Superfamily_domains:SSF56112											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	27	65365080	65365080	C	T	1	0	0	0	0	1	0	0	0	5017	797	28	3		3	EPHA5	4	65365080	Missense_Mutation	SNP	C	C3L-01862_TP	8986631	65365080	124849475	44	7983											
EPHA5	0	.	GRCh38	chr4	65490701	65490701	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagatggcattccgaggagCagaggggggtcctggtttac	8	9	17	7	1	0	2	0	1	0	2	2	5	2	3	2	6	2	3	2	6	1	3	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.1078G>C	p.Ala360Pro	p.A360P	ENST00000622150	5/18	117	93	24	145	145	0	strelka-varscan-mutect	EPHA5,missense_variant,p.Ala360Pro,ENST00000622150,NM_001281765.1;EPHA5,missense_variant,p.Ala360Pro,ENST00000613740,NM_001281766.1;EPHA5,missense_variant,p.Ala360Pro,ENST00000273854,NM_004439.6;EPHA5,missense_variant,p.Ala360Pro,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Ala360Pro,ENST00000354839,NM_182472.3;EPHA5,intron_variant,,ENST00000432638,;	G	ENST00000622150	Transcript	missense_variant	1831/8421	1078/3117	360/1038	A/P	Gct/Cct		1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1	tolerated(0.12)		5/18		Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	27	65490701	65490701	C	G	1	0	0	0	0	1	0	0	0	5017	710	25	4		4	EPHA5	4	65490701	Missense_Mutation	SNP	C	C3L-01862_TP	125621	65490701	124723854	45	7984											
ADH7	0	.	GRCh38	chr4	99427816	99427816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatccagtggaaaacccaCagccaattaaacagactttc	16	8	5	12	0	0	1	0	0	0	1	2	2	1	2	3	1	3	0	3	1	6	3	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.581G>T	p.Cys194Phe	p.C194F	ENST00000476959	5/9	66	54	12	73	73	0	strelka-varscan-mutect	ADH7,missense_variant,p.Cys174Phe,ENST00000437033,;ADH7,missense_variant,p.Cys186Phe,ENST00000209665,NM_000673.4;ADH7,missense_variant,p.Cys117Phe,ENST00000482593,;ADH7,missense_variant,p.Cys194Phe,ENST00000476959,NM_001166504.1;ADH7,downstream_gene_variant,,ENST00000474027,;	A	ENST00000476959	Transcript	missense_variant	611/1325	581/1185	194/394	C/F	tGt/tTt		1		-1	ADH7	HGNC	HGNC:256	protein_coding	YES	CCDS54781.1	ENSP00000420269	P40394		UPI00017A81B5	NM_001166504.1	deleterious(0)		5/9		hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF355,Gene3D:3.90.180.10,Superfamily_domains:SSF50129,Superfamily_domains:SSF51735																	MODERATE	1	SNV	2			1										PASS		rs1323092909	.												A	3	1	27	99427816	99427816	C	A	1	0	0	0	0	1	0	0	0	386	478	17	2		2	ADH7	4	99427816	Missense_Mutation	SNP	C	C3L-01862_TP	33937115	99427816	90786739	46	7985											
NIPBL	0	.	GRCh38	chr5	36984682	36984682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttaaatttcagataagcCtttgaaaaaaagaaaacaag	20	11	5	5	0	2	3	1	1	1	2	2	3	2	3	1	0	2	0	1	0	9	5	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.1502C>T	p.Pro501Leu	p.P501L	ENST00000282516	10/47	95	81	14	161	161	0	strelka-varscan-mutect	NIPBL,missense_variant,p.Pro501Leu,ENST00000282516,NM_133433.3;NIPBL,missense_variant,p.Pro501Leu,ENST00000448238,NM_015384.4;NIPBL,intron_variant,,ENST00000621733,;NIPBL,non_coding_transcript_exon_variant,,ENST00000504430,;	T	ENST00000282516	Transcript	missense_variant	2001/10435	1502/8415	501/2804	P/L	cCt/cTt		1		1	NIPBL	HGNC	HGNC:28862	protein_coding	YES	CCDS3920.1	ENSP00000282516	Q6KC79		UPI00003761B5	NM_133433.3	deleterious_low_confidence(0)		10/47																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	36984682	36984682	C	T	1	0	0	0	0	1	0	0	0	10463	681	24	3		3	NIPBL	5	36984682	Missense_Mutation	SNP	C	C3L-01862_TP		36984682	144553577	47	7986											
CWC27	0	.	GRCh38	chr5	64801301	64801301	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcttattttttttataGtgaaaaaggtgatgcaccag	11	18	8	4	0	0	2	0	2	0	0	0	2	0	2	1	1	2	2	1	1	5	8	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.750-1G>T		p.X250_splice	ENST00000381070		84	68	16	149	149	0	strelka-varscan-mutect	CWC27,splice_acceptor_variant,,ENST00000508024,NM_001297645.1;CWC27,splice_acceptor_variant,,ENST00000381070,NM_001297644.1,NM_005869.3;CWC27,splice_acceptor_variant,,ENST00000506168,;	T	ENST00000381070	Transcript	splice_acceptor_variant	-/2078	750/1419	250/472				1		1	CWC27	HGNC	HGNC:10664	protein_coding	YES	CCDS3982.2	ENSP00000370460	Q6UX04		UPI0000048ECC	NM_001297644.1,NM_005869.3				8/13																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	27	64801301	64801301	G	T	1	0	0	0	0	0	0	1	0	3880	1043	36	2		2	CWC27	5	64801301	Splice_Site	SNP	G	C3L-01862_TP	27816619	64801301	116736958	48	7987											
VCAN	0	.	GRCh38	chr5	83537810	83537810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaagaagcagttaccCtaataggaaatccttggcca	15	7	10	9	0	0	2	0	0	0	2	1	4	1	4	3	3	2	2	3	3	6	4	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.4807C>G	p.Leu1603Val	p.L1603V	ENST00000265077	8/15	332	287	45	442	442	0	strelka-varscan-mutect	VCAN,missense_variant,p.Leu1603Val,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Leu616Val,ENST00000343200,NM_001164097.1;VCAN,missense_variant,p.Leu616Val,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	G	ENST00000265077	Transcript	missense_variant	5372/12625	4807/10191	1603/3396	L/V	Cta/Gta		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	tolerated(0.23)		8/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	27	83537810	83537810	C	G	1	0	0	0	0	1	0	0	0	17683	680	24	4		4	VCAN	5	83537810	Missense_Mutation	SNP	C	C3L-01862_TP	18736509	83537810	98000449	49	7988											
ADGRV1	0	.	GRCh38	chr5	90756474	90756474	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccttcctgaattggaGgaaggatttattgtcactat	11	14	10	6	0	1	2	1	2	0	0	2	6	2	5	2	3	0	0	2	3	4	6	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.11601G>C	p.Glu3867Asp	p.E3867D	ENST00000405460	56/90	60	52	8	120	120	0	strelka-varscan-mutect	ADGRV1,missense_variant,p.Glu3867Asp,ENST00000405460,NM_032119.3;ADGRV1,missense_variant,p.Glu1433Asp,ENST00000509621,;	C	ENST00000405460	Transcript	missense_variant	11697/19338	11601/18921	3867/6306	E/D	gaG/gaC		1		1	ADGRV1	HGNC	HGNC:17416	protein_coding	YES	CCDS47246.1	ENSP00000384582	Q8WXG9		UPI00002127A7	NM_032119.3	tolerated(0.27)		56/90		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	27	90756474	90756474	G	C	1	0	0	0	0	1	0	0	0	379	991	35	4		4	ADGRV1	5	90756474	Missense_Mutation	SNP	G	C3L-01862_TP	7218664	90756474	90781785	50	7989											
MCTP1	0	.	GRCh38	chr5	94894778	94894778	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccctcaccctcttccagCtgcaactccagcttgtgcgt	5	12	7	17	1	2	0	1	0	1	0	5	0	5	0	4	0	5	3	4	0	1	2	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.1710G>T	p.Gln570His	p.Q570H	ENST00000515393	11/23	82	75	7	54	54	0	strelka-varscan-mutect	MCTP1,missense_variant,p.Gln570His,ENST00000515393,NM_024717.5;MCTP1,missense_variant,p.Gln303His,ENST00000429576,NM_001297777.1;MCTP1,missense_variant,p.Gln86His,ENST00000505078,;MCTP1,missense_variant,p.Gln171His,ENST00000506568,;MCTP1,missense_variant,p.Gln349His,ENST00000312216,NM_001002796.3;MCTP1,missense_variant,p.Gln290His,ENST00000508509,;MCTP1,missense_variant,p.Gln349His,ENST00000505208,;MCTP1,missense_variant,p.Gln231His,ENST00000512425,;	A	ENST00000515393	Transcript	missense_variant	1710/5396	1710/3000	570/999	Q/H	caG/caT		1		-1	MCTP1	HGNC	HGNC:26183	protein_coding	YES	CCDS34203.1	ENSP00000424126	Q6DN14		UPI0000D6165C	NM_024717.5	tolerated(0.11)		11/23		Low_complexity_(Seg):seg,hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF56,Gene3D:2.60.40.150,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	94894778	94894778	C	A	1	0	0	0	0	1	0	0	0	9336	796	28	2		2	MCTP1	5	94894778	Missense_Mutation	SNP	C	C3L-01862_TP	4138304	94894778	86643481	51	7990											
SPOCK1	0	.	GRCh38	chr5	137067742	137067742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctgccttgtgctttggtgGctcaggctctgggagacagg	4	13	15	9	0	3	1	1	0	2	1	3	2	3	1	1	5	2	3	1	5	0	3	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.562C>A	p.Pro188Thr	p.P188T	ENST00000394945	6/11	180	142	38	166	166	0	strelka-varscan-mutect	SPOCK1,missense_variant,p.Pro188Thr,ENST00000394945,NM_004598.3;SPOCK1,missense_variant,p.Pro126Thr,ENST00000282223,;SPOCK1,missense_variant,p.Pro43Thr,ENST00000510689,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000635347,;	T	ENST00000394945	Transcript	missense_variant	732/4846	562/1320	188/439	P/T	Cca/Aca		1		-1	SPOCK1	HGNC	HGNC:11251	protein_coding	YES	CCDS4191.1	ENSP00000378401	Q08629		UPI0000136F50	NM_004598.3	tolerated(1)		6/11		hmmpanther:PTHR22118,hmmpanther:PTHR22118:SF9,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	137067742	137067742	G	T	1	0	0	0	0	1	0	0	0	15432	1203	42	2		2	SPOCK1	5	137067742	Missense_Mutation	SNP	G	C3L-01862_TP	42172964	137067742	44470517	52	7991											
PCDHA13	0	.	GRCh38	chr5	140882482	140882482	+	Frame_Shift_Del	DEL	G	G	-																															gggtggcgtccaaaagacacGgggaccttctggaggtaaat																								rs200256955		C3L-01862_TP	C3L-01862_NB	G	G																c.217delG	p.Asp73ThrfsTer5	p.D73Tfs*5	ENST00000289272	1/4	391	330	61	445	445	0	sindel-varindel-pindel	PCDHA13,frameshift_variant,p.Asp73ThrfsTer5,ENST00000289272,NM_018904.2;PCDHA13,frameshift_variant,p.Asp73ThrfsTer5,ENST00000409494,;PCDHA13,frameshift_variant,p.Asp73ThrfsTer5,ENST00000617769,NM_031865.1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA11,intron_variant,,ENST00000398640,NM_018902.4;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA12,intron_variant,,ENST00000398631,NM_018903.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA11,intron_variant,,ENST00000617408,;PCDHA12,downstream_gene_variant,,ENST00000613593,NM_031864.2;AC005609.17,non_coding_transcript_exon_variant,,ENST00000625195,;	-	ENST00000289272	Transcript	frameshift_variant	214/5260	214/2853	72/950	G/X	Ggg/gg	rs200256955	1		1	PCDHA13	HGNC	HGNC:8667	protein_coding	YES	CCDS4240.1	ENSP00000289272	Q9Y5I0		UPI00001273D6	NM_018904.2			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,Gene3D:2.60.40.60,Pfam_domain:PF08266,SMART_domains:SM00112,Superfamily_domains:SSF49313																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	27	140882482	140882482	G	-	1	0	1	0	1	0	0	0	0	11610	1116	39	0		0	PCDHA13	5	140882482	Frame_Shift_Del	DEL	G	C3L-01862_TP	3814740	140882482	40655777	53	7992											
PCDHA13	0	.	GRCh38	chr5	140883002	140883002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgccccggaattttaccaatCcgtttataaagtgacggtgt	10	12	9	10	4	0	1	0	1	0	0	1	2	1	2	4	2	1	1	4	2	6	5	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.734C>G	p.Ser245Cys	p.S245C	ENST00000289272	1/4	175	148	27	240	240	0	strelka-varscan-mutect	PCDHA13,missense_variant,p.Ser245Cys,ENST00000289272,NM_018904.2;PCDHA13,missense_variant,p.Ser245Cys,ENST00000409494,;PCDHA13,missense_variant,p.Ser245Cys,ENST00000617769,NM_031865.1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA11,intron_variant,,ENST00000398640,NM_018902.4;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA12,intron_variant,,ENST00000398631,NM_018903.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA11,intron_variant,,ENST00000617408,;AC005609.17,upstream_gene_variant,,ENST00000625195,;	G	ENST00000289272	Transcript	missense_variant	734/5260	734/2853	245/950	S/C	tCc/tGc		1		1	PCDHA13	HGNC	HGNC:8667	protein_coding	YES	CCDS4240.1	ENSP00000289272	Q9Y5I0		UPI00001273D6	NM_018904.2	deleterious_low_confidence(0.01)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	27	140883002	140883002	C	G	1	0	0	0	0	1	0	0	0	11610	855	30	4		4	PCDHA13	5	140883002	Missense_Mutation	SNP	C	C3L-01862_TP	520	140883002	40655257	54	7993											
PCDHGA4	0	.	GRCh38	chr5	141355593	141355593	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttaatgataacccaccCagttttgggacagaacagag	14	9	10	8	0	0	3	0	1	0	2	0	5	0	4	2	1	2	2	2	1	3	4	rs770322971		C3L-01862_TP	C3L-01862_NB	C	C																c.486C>A	p.=	p.P162P	ENST00000571252	1/4	140	115	25	199	197	2	strelka-varscan-mutect	PCDHGA4,synonymous_variant,p.=,ENST00000571252,NM_018917.3;PCDHGA4,synonymous_variant,p.=,ENST00000612927,NM_032053.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB2,upstream_gene_variant,,ENST00000522605,NM_018923.2;PCDHGB1,downstream_gene_variant,,ENST00000611598,NM_032095.1;PCDHGB2,upstream_gene_variant,,ENST00000622527,NM_032096.1;AC005618.8,upstream_gene_variant,,ENST00000625053,;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000571252	Transcript	synonymous_variant	569/4778	486/2889	162/962	P	ccC/ccA	rs770322971	1		1	PCDHGA4	HGNC	HGNC:8702	protein_coding	YES	CCDS58979.2	ENSP00000458570		A0A087WT05	UPI0003583741	NM_018917.3			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF94,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs770322971	.												A	2	1	27	141355593	141355593	C	A	1	0	0	0	0	0	0	0	1	11643	581	21	2		2	PCDHGA4	5	141355593	Silent	SNP	C	C3L-01862_TP	472591	141355593	40182666	55	7994											
CSF1R	0	.	GRCh38	chr5	150080803	150080803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggcggcgctgcctcccaGggggtctccaggctcagtgc	4	7	16	14	2	2	0	1	0	1	0	4	1	3	0	3	5	2	2	3	5	0	0	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.271C>A	p.Leu91Met	p.L91M	ENST00000286301	3/22	239	198	41	239	239	0	strelka-varscan-mutect	CSF1R,missense_variant,p.Leu91Met,ENST00000286301,NM_001288705.1,NM_005211.3;CSF1R,missense_variant,p.Leu91Met,ENST00000543093,;CSF1R,5_prime_UTR_variant,,ENST00000511344,;CSF1R,missense_variant,p.Leu91Met,ENST00000504875,;CSF1R,non_coding_transcript_exon_variant,,ENST00000502660,;	T	ENST00000286301	Transcript	missense_variant	563/3989	271/2919	91/972	L/M	Ctg/Atg		1		-1	CSF1R	HGNC	HGNC:2433	protein_coding	YES	CCDS4302.1	ENSP00000286301	P07333		UPI000004984A	NM_001288705.1,NM_005211.3	tolerated(0.14)		3/22		hmmpanther:PTHR24416:SF47,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000615,Gene3D:2.60.40.10,PIRSF_domain:PIRSF500947,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	150080803	150080803	G	T	1	0	0	0	0	1	0	0	0	3733	991	35	2		2	CSF1R	5	150080803	Missense_Mutation	SNP	G	C3L-01862_TP	8725210	150080803	31457456	56	7995											
ARSI	0	.	GRCh38	chr5	150297925	150297925	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccgttgctttcgcttgagCaggggactgtggacaaagcc	7	10	14	10	2	0	1	0	1	0	0	2	3	1	3	2	3	3	4	2	3	1	3	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.999G>T	p.=	p.L333L	ENST00000328668	2/2	98	85	13	113	113	0	strelka-varscan-mutect	ARSI,synonymous_variant,p.=,ENST00000328668,NM_001012301.2;ARSI,synonymous_variant,p.=,ENST00000515301,;ARSI,downstream_gene_variant,,ENST00000509146,;	A	ENST00000328668	Transcript	synonymous_variant	1579/3161	999/1710	333/569	L	ctG/ctT		1		-1	ARSI	HGNC	HGNC:32521	protein_coding	YES	CCDS34275.1	ENSP00000333395	Q5FYB1		UPI000003FD83	NM_001012301.2			2/2		Gene3D:3.40.720.10,Pfam_domain:PF00884,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF68,Superfamily_domains:SSF53649																	LOW	1	SNV	1			1										PASS		rs1170814129	.												A	2	1	27	150297925	150297925	C	A	1	0	0	0	0	0	0	0	1	1137	697	25	2		2	ARSI	5	150297925	Silent	SNP	C	C3L-01862_TP	217122	150297925	31240334	57	7996											
FAM71B	0	.	GRCh38	chr5	157163188	157163188	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agactggcggcccccgccatCgaggtggaagtaccttccaa	9	6	12	14	3	0	1	0	0	0	1	2	3	1	2	5	4	1	1	5	4	3	2	rs369213663		C3L-01862_TP	C3L-01862_NB	C	C																c.1077G>A	p.=	p.S359S	ENST00000302938	2/2	145	128	17	220	220	0	strelka-varscan-mutect	FAM71B,synonymous_variant,p.=,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;MED7,upstream_gene_variant,,ENST00000524289,;	T	ENST00000302938	Transcript	synonymous_variant	1173/2515	1077/1818	359/605	S	tcG/tcA	rs369213663,COSM260817	1		-1	FAM71B	HGNC	HGNC:28397	protein_coding	YES	CCDS4335.1	ENSP00000305596	Q8TC56	A0A140VJJ4	UPI000006F9DC	NM_130899.2			2/2		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2											0,1						LOW	1	SNV	1		0,1	1										PASS		rs369213663	.												T	2	4	27	157163188	157163188	C	T	1	0	0	0	0	0	0	0	1	5472	871	31	1		1	FAM71B	5	157163188	Silent	SNP	C	C3L-01862_TP	6865263	157163188	24375071	58	7997											
TRIM7	0	.	GRCh38	chr5	181195364	181195364	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggcgaccgctcggggctGgtcacggcccagtactggcc	5	5	17	14	4	1	0	1	0	0	0	2	1	1	0	3	7	1	3	3	7	1	1	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.1338C>G	p.=	p.T446T	ENST00000274773	7/7	116	102	14	116	115	1	strelka-varscan-mutect	TRIM7,synonymous_variant,p.=,ENST00000393315,NM_203294.1,NM_203296.1;TRIM7,synonymous_variant,p.=,ENST00000274773,NM_203293.2;TRIM7,synonymous_variant,p.=,ENST00000393319,NM_203297.1;TRIM7,synonymous_variant,p.=,ENST00000422067,NM_203295.1;CTC-338M12.2,upstream_gene_variant,,ENST00000513771,;CTC-338M12.6,upstream_gene_variant,,ENST00000511517,;CTC-338M12.6,upstream_gene_variant,,ENST00000509080,;CTC-338M12.6,upstream_gene_variant,,ENST00000502812,;CTC-338M12.6,upstream_gene_variant,,ENST00000512508,;CTC-338M12.5,downstream_gene_variant,,ENST00000508877,;CTC-338M12.6,upstream_gene_variant,,ENST00000419707,;CTC-338M12.5,downstream_gene_variant,,ENST00000514487,;TRIM7,non_coding_transcript_exon_variant,,ENST00000504241,;	C	ENST00000274773	Transcript	synonymous_variant	1400/2840	1338/1536	446/511	T	acC/acG		1		-1	TRIM7	HGNC	HGNC:16278	protein_coding	YES	CCDS4462.1	ENSP00000274773	Q9C029		UPI000006D24A	NM_203293.2			7/7		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF361,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	27	181195364	181195364	G	C	1	0	0	0	0	0	0	0	1	17039	1335	47	4		4	TRIM7	5	181195364	Silent	SNP	G	C3L-01862_TP	24032176	181195364	342895	59	7998											
OR10C1	0	.	GRCh38	chr6	29440174	29440175	+	Frame_Shift_Ins	INS	-	-	T																															tggtctccactgatgctgccINSctccagtcccctatgtactt																								novel		C3L-01862_TP	C3L-01862_NB	-	-																c.159_160insT	p.Leu54SerfsTer67	p.L54Sfs*67	ENST00000444197	1/1	238	192	46	281	281	0	sindel-varindel	OR10C1,frameshift_variant,p.Leu54SerfsTer67,ENST00000444197,NM_013941.3;OR10C1,frameshift_variant,p.Leu56SerfsTer67,ENST00000622521,;OR11A1,intron_variant,,ENST00000377149,;	T	ENST00000444197	Transcript	frameshift_variant	869-870/1649	159-160/939	53-54/312	-/X	-/T		1		1	OR10C1	HGNC	HGNC:8165	protein_coding	YES	CCDS34364.1	ENSP00000419119	Q96KK4	A0A126GV80	UPI000014068E	NM_013941.3			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF191,Superfamily_domains:SSF81321																	HIGH	1	insertion				1										PASS		.	.												T	7	5	27	29440174	29440174	-	T	1	0	1	1	0	0	0	0	0	10973	610	22	0		0	OR10C1	6	29440174	Frame_Shift_Ins	INS	-	C3L-01862_TP		29440174	141365805	60	7999											
ZFP57	0	.	GRCh38	chr6	29673172	29673172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaaaagcccctggatggaCctctggcttctggcgatggg	7	9	13	12	1	2	0	0	0	2	0	3	3	3	2	4	5	1	1	4	5	2	1	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.939G>T	p.Arg313Ser	p.R313S	ENST00000488757	4/4	206	168	38	304	303	1	strelka-varscan-mutect	ZFP57,missense_variant,p.Arg293Ser,ENST00000376883,;ZFP57,missense_variant,p.Arg313Ser,ENST00000488757,NM_001109809.2;ZFP57,missense_variant,p.Arg229Ser,ENST00000376881,;MOG,downstream_gene_variant,,ENST00000376894,;MOG,downstream_gene_variant,,ENST00000376917,NM_206809.3;MOG,downstream_gene_variant,,ENST00000431798,NM_206812.3;MOG,downstream_gene_variant,,ENST00000376888,NM_206814.5;MOG,downstream_gene_variant,,ENST00000376898,NM_002433.4;MOG,downstream_gene_variant,,ENST00000494692,NM_206811.3;MOG,downstream_gene_variant,,ENST00000396701,NM_206810.3;MOG,downstream_gene_variant,,ENST00000376891,NM_001008229.2;MOG,downstream_gene_variant,,ENST00000396704,NM_001008228.2;MOG,downstream_gene_variant,,ENST00000416766,;MOG,downstream_gene_variant,,ENST00000490427,NM_001170418.1;MOG,downstream_gene_variant,,ENST00000483013,;MOG,downstream_gene_variant,,ENST00000376889,;MOG,downstream_gene_variant,,ENST00000485211,;MOG,downstream_gene_variant,,ENST00000485885,;	A	ENST00000488757	Transcript	missense_variant	1090/1870	939/1611	313/536	R/S	agG/agT		1		-1	ZFP57	HGNC	HGNC:18791	protein_coding	YES	CCDS43436.2	ENSP00000418259	Q9NU63		UPI0001951170	NM_001109809.2	tolerated(0.46)		4/4																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	29673172	29673172	C	A	1	0	0	0	0	1	0	0	0	18226	506	18	2		2	ZFP57	6	29673172	Missense_Mutation	SNP	C	C3L-01862_TP	232998	29673172	141132807	61	8000											
PTCHD4	0	.	GRCh38	chr6	47879225	47879225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaatccactacagagtCttcttaggtcatcctggacg	10	11	9	11	1	3	2	1	1	2	1	5	3	5	3	2	2	1	0	2	2	3	3	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.1619G>T	p.Arg540Ile	p.R540I	ENST00000339488	3/3	134	107	27	207	207	0	strelka-varscan-mutect	PTCHD4,missense_variant,p.Arg540Ile,ENST00000339488,NM_001013732.3;	A	ENST00000339488	Transcript	missense_variant	1653/2850	1619/2541	540/846	R/I	aGa/aTa		1		-1	PTCHD4	HGNC	HGNC:21345	protein_coding	YES	CCDS34473.2	ENSP00000341914	Q6ZW05		UPI000179A8D3	NM_001013732.3	tolerated(0.06)		3/3		Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	27	47879225	47879225	C	A	1	0	0	0	0	1	0	0	0	12887	913	32	2		2	PTCHD4	6	47879225	Missense_Mutation	SNP	C	C3L-01862_TP	18206053	47879225	122926754	62	8001											
LAMA4	0	.	GRCh38	chr6	112119195	112119195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaggagccacacctccCaaataaatgggacccttgat	12	9	7	13	0	0	1	0	1	0	0	2	3	2	3	5	2	1	0	5	2	3	3	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.4782G>T	p.Leu1594Phe	p.L1594F	ENST00000230538	34/39	454	386	68	423	423	0	strelka-varscan-mutect	LAMA4,missense_variant,p.Leu1594Phe,ENST00000230538,NM_001105206.2;LAMA4,missense_variant,p.Leu1587Phe,ENST00000522006,NM_001105207.2,NM_002290.4;LAMA4,missense_variant,p.Leu1587Phe,ENST00000389463,;LAMA4,missense_variant,p.Leu1587Phe,ENST00000424408,;LAMA4,downstream_gene_variant,,ENST00000604740,;LAMA4,downstream_gene_variant,,ENST00000521693,;	A	ENST00000230538	Transcript	missense_variant	5180/6547	4782/5472	1594/1823	L/F	ttG/ttT		1		-1	LAMA4	HGNC	HGNC:6484	protein_coding	YES	CCDS43491.1	ENSP00000230538		A0A0A0MQS9	UPI000153D541	NM_001105206.2	deleterious(0)		34/39		PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF277,Gene3D:2.60.120.200,Pfam_domain:PF00054,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	112119195	112119195	C	A	1	0	0	0	0	1	0	0	0	8512	593	21	2		2	LAMA4	6	112119195	Missense_Mutation	SNP	C	C3L-01862_TP	64239970	112119195	58686784	63	8002											
SMOC2	0	.	GRCh38	chr6	168509952	168509952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agataaagacaaggattgtaGcttggactgtgcgggttcgc	11	10	14	6	2	0	2	0	0	0	2	1	4	0	4	0	3	2	3	0	3	4	5	rs746350725		C3L-01862_TP	C3L-01862_NB	G	G																c.122G>T	p.Ser41Ile	p.S41I	ENST00000354536	2/13	150	122	28	150	150	0	strelka-varscan-mutect	SMOC2,missense_variant,p.Ser41Ile,ENST00000354536,NM_022138.2;SMOC2,missense_variant,p.Ser41Ile,ENST00000356284,NM_001166412.1;	T	ENST00000354536	Transcript	missense_variant	342/3150	122/1374	41/457	S/I	aGc/aTc	rs746350725	1		1	SMOC2	HGNC	HGNC:20323	protein_coding	YES	CCDS5307.1	ENSP00000346537	Q9H3U7		UPI0000072A56	NM_022138.2	tolerated(0.06)		2/13		PROSITE_profiles:PS51465,hmmpanther:PTHR12352,hmmpanther:PTHR12352:SF14,SMART_domains:SM00280,Superfamily_domains:SSF100895																	MODERATE	1	SNV	1			1										PASS		rs746350725	.												T	3	4	27	168509952	168509952	G	T	1	0	0	0	0	1	0	0	0	15123	971	34	2		2	SMOC2	6	168509952	Missense_Mutation	SNP	G	C3L-01862_TP	56390757	168509952	2296027	64	8003											
TNRC18	0	.	GRCh38	chr7	5361697	5361697	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggcctctgcgtgccaagcTtctatggggttcctcgcgcc	4	10	13	14	3	2	0	0	0	2	0	4	0	3	0	4	3	3	2	4	3	2	3	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.4558A>C	p.Ser1520Arg	p.S1520R	ENST00000430969	14/30	173	151	22	163	163	0	strelka-varscan-mutect	TNRC18,missense_variant,p.Ser1520Arg,ENST00000399537,;TNRC18,missense_variant,p.Ser1520Arg,ENST00000430969,NM_001080495.2;TNRC18,intron_variant,,ENST00000440081,;	G	ENST00000430969	Transcript	missense_variant	4907/10562	4558/8907	1520/2968	S/R	Agc/Cgc		1		-1	TNRC18	HGNC	HGNC:11962	protein_coding	YES	CCDS47534.1	ENSP00000395538	O15417		UPI00016632FD	NM_001080495.2	deleterious(0.01)		14/30		hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF21																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	27	5361697	5361697	T	G	1	0	0	0	0	1	0	0	0	16812	1609	56	5		5	TNRC18	7	5361697	Missense_Mutation	SNP	T	C3L-01862_TP		5361697	153984276	65	8004											
CDK13	0	.	GRCh38	chr7	40001947	40001947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgagaaattaaaattctcCggcagcttacccatcagagt	13	11	7	10	2	2	2	1	0	1	2	4	3	2	2	2	1	2	2	2	1	4	4	rs549473641		C3L-01862_TP	C3L-01862_NB	C	C																c.2269C>T	p.Arg757Trp	p.R757W	ENST00000181839	5/14	253	223	30	288	288	0	strelka-varscan-mutect	CDK13,missense_variant,p.Arg757Trp,ENST00000181839,NM_003718.4;CDK13,missense_variant,p.Arg757Trp,ENST00000340829,NM_031267.3;CDK13,missense_variant,p.Arg143Trp,ENST00000613626,;CDK13,missense_variant,p.Arg143Trp,ENST00000611390,;CDK13,non_coding_transcript_exon_variant,,ENST00000484589,;	T	ENST00000181839	Transcript	missense_variant	2874/7298	2269/4539	757/1512	R/W	Cgg/Tgg	rs549473641,COSM5635517	1		1	CDK13	HGNC	HGNC:1733	protein_coding	YES	CCDS5461.1	ENSP00000181839	Q14004	A0A024RA85	UPI000013C5E3	NM_003718.4	deleterious(0)		5/14		PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF125,hmmpanther:PTHR24056,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs549473641	.												T	3	4	27	40001947	40001947	C	T	1	0	0	0	0	1	0	0	0	2833	643	23	1		1	CDK13	7	40001947	Missense_Mutation	SNP	C	C3L-01862_TP	34640250	40001947	119344026	66	8005											
ZNF716	0	.	GRCh38	chr7	57469653	57469653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccctcaaccttcacttacCacaagagaactcatactgga	14	9	4	14	0	3	1	3	0	0	1	3	3	3	2	3	1	5	0	3	1	6	4	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.1192C>A	p.His398Asn	p.H398N	ENST00000420713	4/4	253	217	36	392	390	2	strelka-varscan-mutect	ZNF716,missense_variant,p.His398Asn,ENST00000420713,NM_001159279.1;	A	ENST00000420713	Transcript	missense_variant	1304/5197	1192/1488	398/495	H/N	Cac/Aac		1		1	ZNF716	HGNC	HGNC:32458	protein_coding	YES	CCDS55112.1	ENSP00000394248	A6NP11		UPI00004192FD	NM_001159279.1	deleterious(0)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	4			1										PASS		.	.												A	3	1	27	57469653	57469653	C	A	1	0	0	0	0	1	0	0	0	18694	594	21	2		2	ZNF716	7	57469653	Missense_Mutation	SNP	C	C3L-01862_TP	17467706	57469653	101876320	67	8006											
GATAD1	0	.	GRCh38	chr7	92456487	92456487	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagttcccaccagaccagaGaagggctacatatggactca	14	6	9	12	0	1	2	1	0	0	2	2	4	2	3	3	2	1	2	3	2	3	3	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.735G>A	p.=	p.E245E	ENST00000287957	5/5	208	180	28	201	201	0	strelka-varscan-mutect	GATAD1,synonymous_variant,p.=,ENST00000287957,NM_021167.4;AC007566.10,upstream_gene_variant,,ENST00000427458,;GATAD1,non_coding_transcript_exon_variant,,ENST00000493878,;GATAD1,non_coding_transcript_exon_variant,,ENST00000465247,;	A	ENST00000287957	Transcript	synonymous_variant	1012/3361	735/810	245/269	E	gaG/gaA		1		1	GATAD1	HGNC	HGNC:29941	protein_coding	YES	CCDS5625.1	ENSP00000287957	Q8WUU5		UPI000006FF00	NM_021167.4			5/5		hmmpanther:PTHR13340																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	27	92456487	92456487	G	A	1	0	0	0	0	0	0	0	1	6129	933	33	3		3	GATAD1	7	92456487	Silent	SNP	G	C3L-01862_TP	34986834	92456487	66889486	68	8007											
ZAN	0	.	GRCh38	chr7	100736824	100736824	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagggcagctatctgcAtatggaatcgaacagcttcc	11	8	10	12	1	1	1	0	0	1	1	3	3	2	2	2	2	4	4	2	2	4	3	rs763870641		C3L-01862_TP	C3L-01862_NB	A	A																c.269A>T	p.His90Leu	p.H90L	ENST00000613979	5/48	131	114	17	218	218	0	strelka-varscan-mutect	ZAN,missense_variant,p.His90Leu,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.His90Leu,ENST00000618565,;ZAN,missense_variant,p.His90Leu,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.His90Leu,ENST00000546292,;ZAN,missense_variant,p.His90Leu,ENST00000542585,;ZAN,missense_variant,p.His90Leu,ENST00000538115,;ZAN,missense_variant,p.His90Leu,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,;	T	ENST00000613979	Transcript	missense_variant	434/8669	269/8439	90/2812	H/L	cAt/cTt	rs763870641	1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.2	tolerated(0.18)		5/48		Pfam_domain:PF00629,PROSITE_profiles:PS50060,SMART_domains:SM00137,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs763870641	.												T	3	4	27	100736824	100736824	A	T	1	0	0	0	0	1	0	0	0	18074	217	8	4		4	ZAN	7	100736824	Missense_Mutation	SNP	A	C3L-01862_TP	8280337	100736824	58609149	69	8008											
WNT16	0	.	GRCh38	chr7	121331741	121331741	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgcattctgtgaccaGgtcatgcagtgcaggcaaca	9	9	12	11	0	2	1	1	1	1	0	2	1	2	1	2	3	4	4	2	3	1	1	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.410G>C	p.Arg137Thr	p.R137T	ENST00000222462	3/4	252	205	47	283	283	0	strelka-varscan-mutect	WNT16,missense_variant,p.Arg137Thr,ENST00000222462,NM_057168.1;WNT16,missense_variant,p.Arg127Thr,ENST00000361301,NM_016087.2;	C	ENST00000222462	Transcript	missense_variant	700/3147	410/1098	137/365	R/T	aGg/aCg		1		1	WNT16	HGNC	HGNC:16267	protein_coding	YES	CCDS5781.1	ENSP00000222462	Q9UBV4		UPI000005104C	NM_057168.1	tolerated(0.12)		3/4		Pfam_domain:PF00110,Prints_domain:PR01349,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF70,SMART_domains:SM00097																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	27	121331741	121331741	G	C	1	0	0	0	0	1	0	0	0	17941	1000	35	4		4	WNT16	7	121331741	Missense_Mutation	SNP	G	C3L-01862_TP	20594917	121331741	38014232	70	8009											
CNTNAP2	0	.	GRCh38	chr7	147043988	147043988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccgctatgtgcgcataGtgcctctggattggaatgga	7	12	13	9	2	1	0	0	0	1	0	1	3	1	3	2	3	3	2	2	3	3	4	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.484G>T	p.Val162Leu	p.V162L	ENST00000361727	4/24	485	401	84	469	468	1	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Val162Leu,ENST00000361727,NM_014141.5;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637694,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636561,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637150,;CNTNAP2,upstream_gene_variant,,ENST00000637825,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637555,;	T	ENST00000361727	Transcript	missense_variant	1002/9896	484/3996	162/1331	V/L	Gtg/Ttg		1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	tolerated(0.7)		4/24		Gene3D:2.60.120.260,Pfam_domain:PF00754,PROSITE_profiles:PS50022,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644,SMART_domains:SM00231,Superfamily_domains:SSF49785,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	147043988	147043988	G	T	1	0	0	0	0	1	0	0	0	3428	1029	36	2		2	CNTNAP2	7	147043988	Missense_Mutation	SNP	G	C3L-01862_TP	25712247	147043988	12301985	71	8010											
PTPRN2	0	.	GRCh38	chr7	158133691	158133691	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcactctctgtctgtcacGatgtagccccgcgcctcttc	5	12	7	17	3	5	0	2	0	3	0	7	1	5	0	3	0	1	1	3	0	1	2	rs201964824		C3L-01862_TP	C3L-01862_NB	G	G																c.1542C>T	p.=	p.I514I	ENST00000389418	9/23	28	21	7	50	49	1	strelka-varscan-mutect	PTPRN2,synonymous_variant,p.=,ENST00000389413,NM_130843.2;PTPRN2,synonymous_variant,p.=,ENST00000409483,NM_001308267.1;PTPRN2,synonymous_variant,p.=,ENST00000389418,NM_001308268.1,NM_002847.3;PTPRN2,synonymous_variant,p.=,ENST00000389416,NM_130842.2;PTPRN2,synonymous_variant,p.=,ENST00000404321,;	A	ENST00000389418	Transcript	synonymous_variant	1552/4706	1542/3048	514/1015	I	atC/atT	rs201964824,COSM289758,COSM3636794	1		-1	PTPRN2	HGNC	HGNC:9677	protein_coding	YES	CCDS5947.1	ENSP00000374069	Q92932		UPI000002E7C7	NM_001308268.1,NM_002847.3			9/23		Pfam_domain:PF11548,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF266											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs201964824	.												A	2	1	27	158133691	158133691	G	A	1	0	0	0	0	0	0	0	1	12962	1048	37	1		1	PTPRN2	7	158133691	Silent	SNP	G	C3L-01862_TP	11089703	158133691	1212282	72	8011											
VPS37A	0	.	GRCh38	chr8	17274927	17274927	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcctttcaaatctgccatTacccattcccacagtggatg	9	13	6	13	0	2	0	1	0	1	0	4	1	4	1	4	1	2	0	4	1	2	3	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.611T>C	p.Leu204Ser	p.L204S	ENST00000324849	5/12	123	101	22	185	185	0	strelka-varscan-mutect	VPS37A,missense_variant,p.Leu204Ser,ENST00000324849,NM_152415.2;VPS37A,missense_variant,p.Leu179Ser,ENST00000521829,NM_001145152.1;VPS37A,upstream_gene_variant,,ENST00000521976,;VPS37A,missense_variant,p.Leu204Ser,ENST00000520140,;VPS37A,3_prime_UTR_variant,,ENST00000425020,;	C	ENST00000324849	Transcript	missense_variant	1285/4906	611/1194	204/397	L/S	tTa/tCa		1		1	VPS37A	HGNC	HGNC:24928	protein_coding	YES	CCDS6001.1	ENSP00000318629	Q8NEZ2		UPI0000039EC3	NM_152415.2	tolerated(0.27)		5/12		hmmpanther:PTHR13678,hmmpanther:PTHR13678:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	27	17274927	17274927	T	C	1	0	0	0	0	1	0	0	0	17751	1764	61	5		5	VPS37A	8	17274927	Missense_Mutation	SNP	T	C3L-01862_TP		17274927	127863709	73	8012											
CCAR2	0	.	GRCh38	chr8	22614997	22614997	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatttgagcggctgtaccAagtggtgagtgggcttcctg	6	13	15	7	1	0	3	0	3	0	0	1	3	1	3	2	3	2	3	2	3	2	4	novel		C3L-01862_TP	C3L-01862_NB	A	A																c.1201A>T	p.Lys401Ter	p.K401*	ENST00000308511	11/21	64	53	11	80	79	1	strelka-varscan-mutect	CCAR2,stop_gained,p.Lys401Ter,ENST00000308511,;CCAR2,stop_gained,p.Lys401Ter,ENST00000389279,NM_021174.5;CCAR2,stop_gained,p.Lys76Ter,ENST00000520861,;CCAR2,stop_gained,p.Lys93Ter,ENST00000520738,;CCAR2,stop_gained,p.Lys219Ter,ENST00000522599,;CCAR2,upstream_gene_variant,,ENST00000613179,;RP11-582J16.5,non_coding_transcript_exon_variant,,ENST00000521025,;CCAR2,upstream_gene_variant,,ENST00000520536,;CCAR2,upstream_gene_variant,,ENST00000521436,;CCAR2,downstream_gene_variant,,ENST00000521020,;	T	ENST00000308511	Transcript	stop_gained	1450/4853	1201/2772	401/923	K/*	Aag/Tag		1		1	CCAR2	HGNC	HGNC:23360	protein_coding	YES	CCDS34863.1	ENSP00000310670	Q8N163		UPI0000070A46				11/21		Pfam_domain:PF14443,hmmpanther:PTHR14304,hmmpanther:PTHR14304:SF12,SMART_domains:SM01122																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	27	22614997	22614997	A	T	1	0	0	0	0	0	1	0	0	2432	144	5	4		4	CCAR2	8	22614997	Nonsense_Mutation	SNP	A	C3L-01862_TP	5340070	22614997	122523639	74	8013											
EYA1	0	.	GRCh38	chr8	71271878	71271878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctttaatgggtgttgatggGctgtggattgtgctgtactc	5	17	14	5	0	1	1	0	1	1	0	2	2	1	2	0	3	2	4	0	3	2	5	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.846C>A	p.Ser282Arg	p.S282R	ENST00000340726	10/18	501	412	89	581	577	4	strelka-varscan-mutect	EYA1,missense_variant,p.Ser282Arg,ENST00000340726,NM_000503.5;EYA1,missense_variant,p.Ser276Arg,ENST00000303824,NM_001288575.1,NM_001288574.1;EYA1,missense_variant,p.Ser282Arg,ENST00000388742,NM_172058.3;EYA1,missense_variant,p.Ser249Arg,ENST00000388740,NM_172060.3;EYA1,missense_variant,p.Ser248Arg,ENST00000388741,;EYA1,missense_variant,p.Ser281Arg,ENST00000388743,;EYA1,missense_variant,p.Ser277Arg,ENST00000419131,NM_172059.3;EYA1,3_prime_UTR_variant,,ENST00000465115,;EYA1,5_prime_UTR_variant,,ENST00000493349,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;	T	ENST00000340726	Transcript	missense_variant	1486/4326	846/1779	282/592	S/R	agC/agA		1		-1	EYA1	HGNC	HGNC:3519	protein_coding	YES	CCDS34906.1	ENSP00000342626	Q99502	A0A024R813	UPI000012A3B3	NM_000503.5	tolerated(0.07)		10/18		hmmpanther:PTHR10190,hmmpanther:PTHR10190:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	71271878	71271878	G	T	1	0	0	0	0	1	0	0	0	5196	1194	42	2		2	EYA1	8	71271878	Missense_Mutation	SNP	G	C3L-01862_TP	48656881	71271878	73866758	75	8014											
MMP16	0	.	GRCh38	chr8	88041695	88041695	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttggtccatcacagccCataaaatccttgaggatgga	11	11	9	10	0	2	1	1	1	1	0	4	3	4	3	3	3	1	1	3	3	2	3			C3L-01862_TP	C3L-01862_NB	C	C																c.1590G>T	p.Met530Ile	p.M530I	ENST00000286614	10/10	209	168	41	287	287	0	strelka-varscan-mutect	MMP16,missense_variant,p.Met530Ile,ENST00000286614,NM_005941.4;	A	ENST00000286614	Transcript	missense_variant	1872/11558	1590/1824	530/607	M/I	atG/atT	COSM2790060,COSM5294083	1		-1	MMP16	HGNC	HGNC:7162	protein_coding	YES	CCDS6246.1	ENSP00000286614	P51512		UPI000003DC73	NM_005941.4	deleterious(0)		10/10		PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF26,Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,Pfam_domain:PF00045,SMART_domains:SM00120,Superfamily_domains:SSF50923											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	27	88041695	88041695	C	A	1	0	0	0	0	1	0	0	0	9618	594	21	2		2	MMP16	8	88041695	Missense_Mutation	SNP	C	C3L-01862_TP	16769817	88041695	57096941	76	8015											
MMP16	0	.	GRCh38	chr8	88056160	88056160	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaataggttttcccgacGtcctcccaccaaatggctga	12	9	8	12	2	0	2	0	1	0	1	3	3	3	2	4	2	0	2	4	2	4	3	rs200751407		C3L-01862_TP	C3L-01862_NB	G	G																c.1341C>G	p.Asp447Glu	p.D447E	ENST00000286614	8/10	98	81	17	125	125	0	strelka-varscan-mutect	MMP16,missense_variant,p.Asp447Glu,ENST00000286614,NM_005941.4;	C	ENST00000286614	Transcript	missense_variant	1623/11558	1341/1824	447/607	D/E	gaC/gaG	rs200751407,COSM2790078	1		-1	MMP16	HGNC	HGNC:7162	protein_coding	YES	CCDS6246.1	ENSP00000286614	P51512		UPI000003DC73	NM_005941.4	tolerated(0.08)		8/10		PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF26,Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,Pfam_domain:PF00045,SMART_domains:SM00120,Superfamily_domains:SSF50923											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs200751407	.												C	3	2	27	88056160	88056160	G	C	1	0	0	0	0	1	0	0	0	9618	1136	40	4		4	MMP16	8	88056160	Missense_Mutation	SNP	G	C3L-01862_TP	14465	88056160	57082476	77	8016											
RUNX1T1	0	.	GRCh38	chr8	91986315	91986315	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctaccatgtccattatgCagtttaacagctatttggga	10	16	7	8	0	1	0	0	0	1	0	2	1	2	1	2	1	4	3	2	1	4	7	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.1265G>T	p.Cys422Phe	p.C422F	ENST00000436581	9/12	214	182	32	243	243	0	strelka-varscan-mutect	RUNX1T1,missense_variant,p.Cys363Phe,ENST00000613302,NM_001198630.1,NM_001198627.1;RUNX1T1,missense_variant,p.Cys363Phe,ENST00000617740,NM_001198629.1,NM_001198626.1;RUNX1T1,missense_variant,p.Cys363Phe,ENST00000523629,NM_175634.2;RUNX1T1,missense_variant,p.Cys363Phe,ENST00000614812,NM_001198631.1;RUNX1T1,missense_variant,p.Cys422Phe,ENST00000436581,NM_001198679.1;RUNX1T1,missense_variant,p.Cys336Phe,ENST00000613886,NM_001198632.1;RUNX1T1,missense_variant,p.Cys343Phe,ENST00000615601,NM_001198633.1;RUNX1T1,missense_variant,p.Cys363Phe,ENST00000265814,NM_001198628.1;RUNX1T1,missense_variant,p.Cys336Phe,ENST00000396218,NM_004349.3;RUNX1T1,missense_variant,p.Cys336Phe,ENST00000518844,NM_001198625.1;RUNX1T1,missense_variant,p.Cys326Phe,ENST00000422361,NM_175636.2;RUNX1T1,missense_variant,p.Cys326Phe,ENST00000360348,NM_175635.2;RUNX1T1,missense_variant,p.Cys374Phe,ENST00000520724,NM_001198634.1;RUNX1T1,missense_variant,p.Cys63Phe,ENST00000521751,;RUNX1T1,3_prime_UTR_variant,,ENST00000520978,;RUNX1T1,downstream_gene_variant,,ENST00000518361,;	A	ENST00000436581	Transcript	missense_variant	1452/7454	1265/1992	422/663	C/F	tGc/tTc		1		-1	RUNX1T1	HGNC	HGNC:1535	protein_coding	YES	CCDS75766.1	ENSP00000402257		A0A0A0MSU1	UPI0001E7B0BD	NM_001198679.1	deleterious(0)		9/12		hmmpanther:PTHR10379:SF5,hmmpanther:PTHR10379,Pfam_domain:PF08788																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	27	91986315	91986315	C	A	1	0	0	0	0	1	0	0	0	14008	710	25	2		2	RUNX1T1	8	91986315	Missense_Mutation	SNP	C	C3L-01862_TP	3930155	91986315	53152321	78	8017											
VPS13B	0	.	GRCh38	chr8	99818864	99818864	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacatagaacctgaccttgTacatcacctgacattccaag	15	9	5	12	0	1	3	1	2	0	1	2	3	2	3	4	0	3	1	4	0	5	4	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.8672T>A	p.Val2891Glu	p.V2891E	ENST00000358544	47/62	350	297	53	401	401	0	strelka-varscan-mutect	VPS13B,missense_variant,p.Val2891Glu,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Val2866Glu,ENST00000357162,NM_152564.4;	A	ENST00000358544	Transcript	missense_variant	8783/14094	8672/12069	2891/4022	V/E	gTa/gAa		1		1	VPS13B	HGNC	HGNC:2183	protein_coding	YES	CCDS6280.1	ENSP00000351346	Q7Z7G8		UPI00001D2D35	NM_017890.4	deleterious(0.01)		47/62		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	99818864	99818864	T	A	1	0	0	0	0	1	0	0	0	17737	1638	57	4		4	VPS13B	8	99818864	Missense_Mutation	SNP	T	C3L-01862_TP	7832549	99818864	45319772	79	8018											
CSMD3	0	.	GRCh38	chr8	112859195	112859195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacacattgtgcattgctgtCatactggaacggaaagttgg	11	11	12	7	1	1	0	1	0	0	0	1	3	1	2	0	3	4	3	0	3	3	4			C3L-01862_TP	C3L-01862_NB	C	C																c.1705G>A	p.Asp569Asn	p.D569N	ENST00000297405	11/71	299	266	33	339	339	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Asp569Asn,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Asp529Asn,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Asp465Asn,ENST00000455883,NM_052900.2;	T	ENST00000297405	Transcript	missense_variant	1950/13212	1705/11124	569/3707	D/N	Gac/Aac	COSM5313257,COSM5313258,COSM5328062,COSM5328063	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0.03)		11/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												T	3	4	27	112859195	112859195	C	T	1	0	0	0	0	1	0	0	0	3747	826	29	3		3	CSMD3	8	112859195	Missense_Mutation	SNP	C	C3L-01862_TP	13040331	112859195	32279441	80	8019											
EFR3A	0	.	GRCh38	chr8	131968399	131968399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attattcaggttctgttagaGgctgttgccattgctgctaa	8	16	10	7	0	2	1	1	0	1	1	2	1	2	1	1	2	3	6	1	2	3	7	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.960G>T	p.Glu320Asp	p.E320D	ENST00000254624	9/23	193	171	22	198	198	0	strelka-varscan-mutect	EFR3A,missense_variant,p.Glu320Asp,ENST00000254624,NM_001323553.1,NM_001323557.1,NM_015137.4;EFR3A,missense_variant,p.Glu284Asp,ENST00000519656,NM_001323553.1,NM_001323556.1,NM_001323557.1;EFR3A,missense_variant,p.Glu347Asp,ENST00000637848,;	T	ENST00000254624	Transcript	missense_variant	1185/5438	960/2466	320/821	E/D	gaG/gaT		1		1	EFR3A	HGNC	HGNC:28970	protein_coding	YES	CCDS34942.2	ENSP00000254624	Q14156		UPI00001C1E8F	NM_001323553.1,NM_001323557.1,NM_015137.4	tolerated(0.06)		9/23		Gene3D:1.25.10.10,hmmpanther:PTHR12444,hmmpanther:PTHR12444:SF1,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	131968399	131968399	G	T	1	0	0	0	0	1	0	0	0	4794	991	35	2		2	EFR3A	8	131968399	Missense_Mutation	SNP	G	C3L-01862_TP	19109204	131968399	13170237	81	8020											
ADGRB1	0	.	GRCh38	chr8	142477486	142477486	+	Frame_Shift_Del	DEL	G	G	-																															cctgcaggcccccccagtttGggggcaacccctgtgagggc																										C3L-01862_TP	C3L-01862_NB	G	G																c.1328delG	p.Gly443AlafsTer147	p.G443Afs*147	ENST00000517894	6/31	171	145	26	163	163	0	sindel-varindel-pindel	ADGRB1,frameshift_variant,p.Gly443AlafsTer147,ENST00000517894,;ADGRB1,frameshift_variant,p.Gly443AlafsTer147,ENST00000323289,NM_001702.2;ADGRB1,frameshift_variant,p.Gly443AlafsTer147,ENST00000521208,;ADGRB1,upstream_gene_variant,,ENST00000518820,;	-	ENST00000517894	Transcript	frameshift_variant	2218/6241	1324/4755	442/1584	G/X	Ggg/gg	COSM4613744	1		1	ADGRB1	HGNC	HGNC:943	protein_coding	YES	CCDS64985.1	ENSP00000430945	O14514		UPI00002109E8				6/31		PROSITE_profiles:PS50092,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895											1						HIGH	1	deletion	5	4	1	1										PASS		.	.												-	7	5	27	142477486	142477486	G	-	1	0	1	0	1	0	0	0	0	355	1348	47	0		0	ADGRB1	8	142477486	Frame_Shift_Del	DEL	G	C3L-01862_TP	10509087	142477486	2661150	82	8021											
BNC2	0	.	GRCh38	chr9	16436039	16436039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgttctcatagtcccgctCaggttcttggtcttcagaag	6	14	9	12	2	5	1	3	0	3	1	8	1	6	1	1	2	0	3	1	2	2	5	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.2155G>A	p.Glu719Lys	p.E719K	ENST00000380672	6/7	273	249	24	408	408	0	strelka-varscan-mutect	BNC2,missense_variant,p.Glu719Lys,ENST00000380672,NM_001317940.1,NM_017637.5;BNC2,missense_variant,p.Glu545Lys,ENST00000545497,;BNC2,missense_variant,p.Glu676Lys,ENST00000418777,;BNC2,missense_variant,p.Glu652Lys,ENST00000380667,;BNC2,missense_variant,p.Glu112Lys,ENST00000411752,;BNC2,downstream_gene_variant,,ENST00000380666,;BNC2,downstream_gene_variant,,ENST00000603713,;BNC2,missense_variant,p.Glu719Lys,ENST00000484726,;	T	ENST00000380672	Transcript	missense_variant	2213/12844	2155/3300	719/1099	E/K	Gag/Aag		1		-1	BNC2	HGNC	HGNC:30988	protein_coding	YES	CCDS6482.2	ENSP00000370047	Q6ZN30		UPI000035E7B0	NM_001317940.1,NM_017637.5	tolerated(0.14)		6/7		hmmpanther:PTHR15021:SF2,hmmpanther:PTHR15021																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	27	16436039	16436039	C	T	1	0	0	0	0	1	0	0	0	1631	835	29	3		3	BNC2	9	16436039	Missense_Mutation	SNP	C	C3L-01862_TP		16436039	121958678	83	8022											
SLC24A2	0	.	GRCh38	chr9	19786341	19786341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccatgaaggtggctcCagccacatcatcagagatgc	11	7	11	12	0	2	2	2	1	0	1	3	3	3	2	3	2	4	2	3	2	1	0	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.526G>A	p.Gly176Arg	p.G176R	ENST00000341998	1/10	443	378	65	516	516	0	strelka-varscan-mutect	SLC24A2,missense_variant,p.Gly176Arg,ENST00000341998,NM_020344.3;SLC24A2,missense_variant,p.Gly176Arg,ENST00000286344,NM_001193288.2;	T	ENST00000341998	Transcript	missense_variant	588/10749	526/1986	176/661	G/R	Gga/Aga		1		-1	SLC24A2	HGNC	HGNC:10976	protein_coding	YES	CCDS6493.1	ENSP00000344801	Q9UI40		UPI000004FA46	NM_020344.3	deleterious(0)		1/10		hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF41,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	19786341	19786341	C	T	1	0	0	0	0	1	0	0	0	14732	603	21	3		3	SLC24A2	9	19786341	Missense_Mutation	SNP	C	C3L-01862_TP	3350302	19786341	118608376	84	8023											
IFNA8	0	.	GRCh38	chr9	21409210	21409210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatttactggtggccctaGtggtgctcagctacaagtca	8	14	10	9	0	2	0	2	0	0	0	2	0	2	0	1	3	4	2	1	3	5	6	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.34G>C	p.Val12Leu	p.V12L	ENST00000380205	1/1	211	174	37	262	262	0	strelka-varscan-mutect	IFNA8,missense_variant,p.Val12Leu,ENST00000380205,NM_002170.3;IFNA1,missense_variant,p.Val12Leu,ENST00000613815,;	C	ENST00000380205	Transcript	missense_variant	64/1039	34/570	12/189	V/L	Gtg/Ctg		1		1	IFNA8	HGNC	HGNC:5429	protein_coding	YES	CCDS6507.1	ENSP00000369553	P32881		UPI000002C35B	NM_002170.3	tolerated(0.12)		1/1		hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF28,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	27	21409210	21409210	G	C	1	0	0	0	0	1	0	0	0	7443	1029	36	4		4	IFNA8	9	21409210	Missense_Mutation	SNP	G	C3L-01862_TP	1622869	21409210	116985507	85	8024											
PHF24	0	.	GRCh38	chr9	34976634	34976634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagcaagaagagcaggCggcccgccagtttgctgccc	9	5	15	12	2	0	3	0	1	0	2	0	4	0	4	3	3	4	4	3	3	2	1	rs751086037		C3L-01862_TP	C3L-01862_NB	C	C																c.743C>A	p.Ala248Glu	p.A248E	ENST00000242315	5/8	217	189	28	182	182	0	strelka-varscan-mutect	PHF24,missense_variant,p.Ala248Glu,ENST00000242315,NM_001304333.1,NM_015297.2;PHF24,non_coding_transcript_exon_variant,,ENST00000476115,;PHF24,upstream_gene_variant,,ENST00000440503,;	A	ENST00000242315	Transcript	missense_variant	825/5718	743/1203	248/400	A/E	gCg/gAg	rs751086037,COSM1108532	1		1	PHF24	HGNC	HGNC:29180	protein_coding	YES	CCDS43796.1	ENSP00000242315	Q9UPV7		UPI00001C1EB1	NM_001304333.1,NM_015297.2	tolerated(0.29)		5/8		Low_complexity_(Seg):seg,hmmpanther:PTHR10891:SF579,hmmpanther:PTHR10891,Gene3D:1.10.238.10,Superfamily_domains:SSF47473											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs751086037	.												A	3	1	27	34976634	34976634	C	A	1	0	0	0	0	1	0	0	0	11922	768	27	1		1	PHF24	9	34976634	Missense_Mutation	SNP	C	C3L-01862_TP	13567424	34976634	103418083	86	8025											
SPATA31D1	0	.	GRCh38	chr9	81993979	81993979	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagtcaggaagctgctCactgacaaatgtgaaagcaa	16	6	10	9	0	2	2	2	2	0	0	2	3	2	3	0	1	4	4	0	1	5	0	rs758789167		C3L-01862_TP	C3L-01862_NB	C	C																c.3509C>A	p.Ser1170Ter	p.S1170*	ENST00000344803	4/4	197	172	25	252	252	0	strelka-varscan-mutect	SPATA31D1,stop_gained,p.Ser1170Ter,ENST00000344803,NM_001001670.2;RP11-15B24.5,intron_variant,,ENST00000637606,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	A	ENST00000344803	Transcript	stop_gained	3556/4833	3509/4731	1170/1576	S/*	tCa/tAa	rs758789167	1		1	SPATA31D1	HGNC	HGNC:37283	protein_coding	YES	CCDS47986.1	ENSP00000341988	Q6ZQQ2		UPI00001C10A6	NM_001001670.2			4/4		hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859																	HIGH	1	SNV	2			1										PASS		rs758789167	.												A	4	1	27	81993979	81993979	C	A	1	0	0	0	0	0	1	0	0	15347	838	29	2		2	SPATA31D1	9	81993979	Nonsense_Mutation	SNP	C	C3L-01862_TP	47017345	81993979	56400738	87	8026											
SECISBP2	0	.	GRCh38	chr9	89358159	89358159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcagaagatggcccccCagccctgaaagaaaaagaag	15	3	10	13	0	0	5	0	1	0	4	0	5	0	5	5	1	2	1	5	1	5	0	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.2429C>T	p.Pro810Leu	p.P810L	ENST00000375807	16/17	369	301	68	380	380	0	strelka-varscan-mutect	SECISBP2,missense_variant,p.Pro742Leu,ENST00000534113,NM_001282690.1;SECISBP2,missense_variant,p.Pro810Leu,ENST00000375807,NM_001282688.1,NM_024077.4;SECISBP2,missense_variant,p.Pro737Leu,ENST00000339901,NM_001282689.1;SEMA4D,downstream_gene_variant,,ENST00000420987,NM_001142287.1;SEMA4D,downstream_gene_variant,,ENST00000339861,;SEMA4D,downstream_gene_variant,,ENST00000455551,;SEMA4D,downstream_gene_variant,,ENST00000420101,;SEMA4D,downstream_gene_variant,,ENST00000469653,;SEMA4D,downstream_gene_variant,,ENST00000475255,;SECISBP2,downstream_gene_variant,,ENST00000496597,;SECISBP2,downstream_gene_variant,,ENST00000498819,;SEMA4D,downstream_gene_variant,,ENST00000429836,;SEMA4D,downstream_gene_variant,,ENST00000537934,;SEMA4D,downstream_gene_variant,,ENST00000492386,;	T	ENST00000375807	Transcript	missense_variant	2500/3462	2429/2565	810/854	P/L	cCa/cTa		1		1	SECISBP2	HGNC	HGNC:30972	protein_coding	YES	CCDS6683.1	ENSP00000364965	Q96T21		UPI00001AEA0A	NM_001282688.1,NM_024077.4	tolerated(0.55)		16/17		hmmpanther:PTHR13284,hmmpanther:PTHR13284:SF9																	MODERATE	1	SNV	1			1										PASS		rs1248757496	.												T	3	4	27	89358159	89358159	C	T	1	0	0	0	0	1	0	0	0	14283	594	21	3		3	SECISBP2	9	89358159	Missense_Mutation	SNP	C	C3L-01862_TP	7364180	89358159	49036558	88	8027											
ABCA1	0	.	GRCh38	chr9	104832573	104832573	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatcccagcaacagattcaCctccatgaagcgagatatgg	13	8	9	11	1	1	4	1	2	0	2	3	5	3	4	3	1	3	1	3	1	3	2	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.1509+1G>T		p.X503_splice	ENST00000374736		399	321	78	464	464	0	strelka-varscan-mutect	ABCA1,splice_donor_variant,,ENST00000374736,NM_005502.3;ABCA1,upstream_gene_variant,,ENST00000494467,;	A	ENST00000374736	Transcript	splice_donor_variant	-/10494	1509/6786	503/2261				1		-1	ABCA1	HGNC	HGNC:29	protein_coding	YES	CCDS6762.1	ENSP00000363868	O95477		UPI000013E441	NM_005502.3				12/49																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	27	104832573	104832573	C	A	1	0	0	0	0	0	0	1	0	32	521	18	2		2	ABCA1	9	104832573	Splice_Site	SNP	C	C3L-01862_TP	15474414	104832573	33562144	89	8028											
UGCG	0	.	GRCh38	chr9	111914686	111914686	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcttctgaaaccactgaaAggggtagatcctaacttaat	13	12	7	9	0	2	3	0	2	2	1	4	3	3	3	2	2	2	1	2	2	5	4	novel		C3L-01862_TP	C3L-01862_NB	A	A																c.180A>C	p.Lys60Asn	p.K60N	ENST00000374279	2/9	242	209	33	268	268	0	strelka-varscan-mutect	UGCG,missense_variant,p.Lys60Asn,ENST00000374279,NM_003358.2;UGCG,non_coding_transcript_exon_variant,,ENST00000495085,;UGCG,non_coding_transcript_exon_variant,,ENST00000490110,;UGCG,non_coding_transcript_exon_variant,,ENST00000489355,;	C	ENST00000374279	Transcript	missense_variant	630/4007	180/1185	60/394	K/N	aaA/aaC		1		1	UGCG	HGNC	HGNC:12524	protein_coding	YES	CCDS6782.1	ENSP00000363397	Q16739	A0A024R157	UPI0000052740	NM_003358.2	deleterious(0.03)		2/9		Gene3D:3.90.550.10,hmmpanther:PTHR12726,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	27	111914686	111914686	A	C	1	0	0	0	0	1	0	0	0	17464	69	3	5		5	UGCG	9	111914686	Missense_Mutation	SNP	A	C3L-01862_TP	7082113	111914686	26480031	90	8029											
GAPVD1	0	.	GRCh38	chr9	125350335	125350335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcttgctctttgctctgcgGactctgttgccttcccagtg	2	15	11	13	1	3	0	0	0	3	0	4	1	4	1	2	2	4	4	2	2	0	4	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.3421G>T	p.Asp1141Tyr	p.D1141Y	ENST00000394105	21/27	182	154	28	185	185	0	strelka-varscan-mutect	GAPVD1,missense_variant,p.Asp1087Tyr,ENST00000470056,;GAPVD1,missense_variant,p.Asp1132Tyr,ENST00000394104,;GAPVD1,missense_variant,p.Asp1114Tyr,ENST00000297933,NM_001282680.1;GAPVD1,missense_variant,p.Asp1132Tyr,ENST00000495955,NM_001282679.1;GAPVD1,missense_variant,p.Asp1141Tyr,ENST00000394105,NM_015635.3;GAPVD1,missense_variant,p.Asp1066Tyr,ENST00000394083,;GAPVD1,missense_variant,p.Asp1093Tyr,ENST00000312123,NM_001282681.1;GAPVD1,non_coding_transcript_exon_variant,,ENST00000474637,;GAPVD1,upstream_gene_variant,,ENST00000467707,;	T	ENST00000394105	Transcript	missense_variant	3581/5207	3421/4464	1141/1487	D/Y	Gac/Tac		1		1	GAPVD1	HGNC	HGNC:23375	protein_coding	YES	CCDS35138.1	ENSP00000377665	Q14C86	A0A024R8A2	UPI00001D76F1	NM_015635.3	deleterious(0)		21/27		hmmpanther:PTHR23101:SF68,hmmpanther:PTHR23101																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	27	125350335	125350335	G	T	1	0	0	0	0	1	0	0	0	6107	1174	41	2		2	GAPVD1	9	125350335	Missense_Mutation	SNP	G	C3L-01862_TP	13435649	125350335	13044382	91	8030											
KYAT1	0	.	GRCh38	chr9	128838105	128838105	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcattgtcatgggctcGtagcagtcaaaaaagggttc	11	10	11	9	1	3	0	3	0	0	0	5	0	3	0	1	2	1	4	1	2	4	3	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.666C>T	p.=	p.Y222Y	ENST00000436267	7/15	260	208	52	270	269	1	strelka-varscan-mutect	KYAT1,synonymous_variant,p.=,ENST00000436267,NM_001287390.1;KYAT1,synonymous_variant,p.=,ENST00000302586,NM_001122671.1,NM_004059.4;KYAT1,synonymous_variant,p.=,ENST00000320665,NM_001122672.1;KYAT1,synonymous_variant,p.=,ENST00000451800,;KYAT1,synonymous_variant,p.=,ENST00000416084,;KYAT1,downstream_gene_variant,,ENST00000427720,;KYAT1,non_coding_transcript_exon_variant,,ENST00000483599,;KYAT1,non_coding_transcript_exon_variant,,ENST00000462722,;KYAT1,non_coding_transcript_exon_variant,,ENST00000474824,;KYAT1,upstream_gene_variant,,ENST00000466418,;	A	ENST00000436267	Transcript	synonymous_variant	960/2487	666/1551	222/516	Y	taC/taT		1		-1	KYAT1	HGNC	HGNC:1564	protein_coding	YES	CCDS75915.1	ENSP00000399415		B7Z4W5	UPI0000EE5683	NM_001287390.1			7/15		hmmpanther:PTHR11751:SF349,hmmpanther:PTHR11751,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383																	LOW	1	SNV	2			1										PASS		rs1047703673	.												A	2	1	27	128838105	128838105	G	A	1	0	0	0	0	0	0	0	1	8486	1140	40	1		1	KYAT1	9	128838105	Silent	SNP	G	C3L-01862_TP	3487770	128838105	9556612	92	8031											
ABCA2	0	.	GRCh38	chr9	137011957	137011957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggaagacaacgaagctggCcggcacgaaggacatggcca	14	2	15	10	3	0	1	0	0	0	1	0	6	0	3	2	5	2	2	2	5	4	0	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.5422G>T	p.Ala1808Ser	p.A1808S	ENST00000341511	35/49	226	198	28	235	234	1	strelka-varscan-mutect	ABCA2,missense_variant,p.Ala1808Ser,ENST00000265662,;ABCA2,missense_variant,p.Ala1807Ser,ENST00000371605,;ABCA2,missense_variant,p.Ala1838Ser,ENST00000614293,;ABCA2,missense_variant,p.Ala1808Ser,ENST00000341511,NM_001606.4,NM_212533.2;ABCA2,upstream_gene_variant,,ENST00000490486,;ABCA2,upstream_gene_variant,,ENST00000437791,;ABCA2,upstream_gene_variant,,ENST00000464157,;ABCA2,missense_variant,p.Ala1158Ser,ENST00000479446,;ABCA2,3_prime_UTR_variant,,ENST00000487109,;ABCA2,non_coding_transcript_exon_variant,,ENST00000459850,;ABCA2,non_coding_transcript_exon_variant,,ENST00000431584,;ABCA2,downstream_gene_variant,,ENST00000488535,;ABCA2,upstream_gene_variant,,ENST00000464520,;ABCA2,upstream_gene_variant,,ENST00000463603,;	A	ENST00000341511	Transcript	missense_variant	5472/8063	5422/7311	1808/2436	A/S	Gcc/Tcc		1		-1	ABCA2	HGNC	HGNC:32	protein_coding	YES	CCDS43909.1	ENSP00000344155	Q9BZC7		UPI0000049F97	NM_001606.4,NM_212533.2	deleterious(0)		35/49		Transmembrane_helices:TMhelix,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF116,Pfam_domain:PF12698																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	27	137011957	137011957	C	A	1	0	0	0	0	1	0	0	0	36	739	26	2		2	ABCA2	9	137011957	Missense_Mutation	SNP	C	C3L-01862_TP	8173852	137011957	1382760	93	8032											
ALOX5	0	.	GRCh38	chr10	45443798	45443798	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgatcttcaccgcctcCgcccagcacgccgcggtcaa	6	7	11	17	5	3	1	2	1	1	0	4	1	4	1	5	2	1	1	5	2	1	1	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.1644C>T	p.=	p.S548S	ENST00000374391	12/14	220	185	35	187	187	0	strelka-varscan-mutect	ALOX5,synonymous_variant,p.=,ENST00000374391,NM_001256153.1,NM_000698.3;ALOX5,synonymous_variant,p.=,ENST00000542434,NM_001256154.1;ALOX5,3_prime_UTR_variant,,ENST00000612635,;RP11-67C2.2,downstream_gene_variant,,ENST00000435635,;ALOX5,non_coding_transcript_exon_variant,,ENST00000498461,;ALOX5,non_coding_transcript_exon_variant,,ENST00000481117,;ALOX5,downstream_gene_variant,,ENST00000493336,;ALOX5,downstream_gene_variant,,ENST00000475300,;	T	ENST00000374391	Transcript	synonymous_variant	1697/2506	1644/2025	548/674	S	tcC/tcT		1		1	ALOX5	HGNC	HGNC:435	protein_coding	YES	CCDS7212.1	ENSP00000363512	P09917		UPI0000043F84	NM_001256153.1,NM_000698.3			12/14		PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF5,hmmpanther:PTHR11771,Gene3D:1.20.245.10,Pfam_domain:PF00305,Superfamily_domains:SSF48484																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	27	45443798	45443798	C	T	1	0	0	0	0	0	0	0	1	640	639	23	1		1	ALOX5	10	45443798	Silent	SNP	C	C3L-01862_TP		45443798	88353624	94	8033											
MYPN	0	.	GRCh38	chr10	68121502	68121502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctaagagagagctatttaGctgaaaccagacatcgggga	14	9	11	7	1	1	4	0	1	1	3	2	6	1	5	1	2	3	2	1	2	4	5	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.64G>A	p.Ala22Thr	p.A22T	ENST00000358913	2/20	115	95	20	185	184	1	strelka-varscan-mutect	MYPN,missense_variant,p.Ala22Thr,ENST00000358913,NM_032578.3;MYPN,missense_variant,p.Ala22Thr,ENST00000540630,NM_001256267.1;MYPN,missense_variant,p.Ala22Thr,ENST00000373675,;MYPN,5_prime_UTR_variant,,ENST00000613327,NM_001256268.1;MYPN,intron_variant,,ENST00000354393,;	A	ENST00000358913	Transcript	missense_variant	552/6013	64/3963	22/1320	A/T	Gct/Act		1		1	MYPN	HGNC	HGNC:23246	protein_coding	YES	CCDS7275.1	ENSP00000351790	Q86TC9		UPI00002288CF	NM_032578.3	deleterious(0)		2/20																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	68121502	68121502	G	A	1	0	0	0	0	1	0	0	0	10099	971	34	3		3	MYPN	10	68121502	Missense_Mutation	SNP	G	C3L-01862_TP	22677704	68121502	65675920	95	8034											
CDH23	0	.	GRCh38	chr10	71732355	71732355	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacccaggccaaagccctcTtcaagatagacgccatcacg	12	5	8	16	2	3	2	2	0	1	2	3	2	3	2	4	1	1	1	4	1	3	2	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.4099T>A	p.Phe1367Ile	p.F1367I	ENST00000224721	32/70	203	167	36	228	228	0	strelka-varscan-mutect	CDH23,missense_variant,p.Phe1367Ile,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Phe1362Ile,ENST00000622827,;CDH23,missense_variant,p.Phe1362Ile,ENST00000616684,NM_001171930.1;CDH23,missense_variant,p.Phe1361Ile,ENST00000398809,;C10orf105,intron_variant,,ENST00000398786,NM_001168390.1;CDH23,non_coding_transcript_exon_variant,,ENST00000398792,;	A	ENST00000224721	Transcript	missense_variant	4489/11139	4099/10080	1367/3359	F/I	Ttc/Atc		1		1	CDH23	HGNC	HGNC:13733	protein_coding			ENSP00000224721		A0A0A0MQS6	UPI0002B831D5	NM_022124.5	deleterious(0)		32/70		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF277,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	27	71732355	71732355	T	A	1	0	0	0	0	1	0	0	0	2811	1609	56	4		4	CDH23	10	71732355	Missense_Mutation	SNP	T	C3L-01862_TP	3610853	71732355	62065067	96	8035											
C10orf54	0	.	GRCh38	chr10	71751291	71751291	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagtcagggacagggtCtgcaagaaaaggagaagcaa	16	4	16	5	0	2	3	1	0	1	3	2	6	2	4	0	4	2	2	0	4	5	0	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.899-1G>T		p.X300_splice	ENST00000394957		142	118	24	153	153	0	strelka-varscan-mutect	C10orf54,splice_acceptor_variant,,ENST00000394957,NM_022153.1;C10orf54,splice_acceptor_variant,,ENST00000470317,;CDH23,intron_variant,,ENST00000224721,NM_022124.5;CDH23,intron_variant,,ENST00000622827,;	A	ENST00000394957	Transcript	splice_acceptor_variant	-/4689	899/936	300/311				1		-1	C10orf54	HGNC	HGNC:30085	protein_coding	YES	CCDS31218.1	ENSP00000378409	Q9H7M9		UPI000004781D	NM_022153.1				6/6																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	27	71751291	71751291	C	A	1	0	0	0	0	0	0	1	0	1765	927	32	2		2	C10orf54	10	71751291	Splice_Site	SNP	C	C3L-01862_TP	18936	71751291	62046131	97	8036											
RGR	0	.	GRCh38	chr10	84258638	84258638	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagaaggaccgaaccaagtGagcctgccaccctggagtga	12	4	14	11	1	0	3	0	2	0	1	0	7	0	5	5	3	3	0	5	3	3	0	rs776462561		C3L-01862_TP	C3L-01862_NB	G	G																c.887G>C	p.Ter296SerextTer98	p.*296Sext*98	ENST00000359452	7/7	385	326	59	391	391	0	strelka-varscan-mutect	RGR,stop_lost,p.Ter296SerextTer98,ENST00000359452,NM_002921.3,NM_001012720.1;RGR,stop_lost,p.Ter254SerextTer98,ENST00000358110,NM_001012722.1;RGR,non_coding_transcript_exon_variant,,ENST00000479725,;RGR,downstream_gene_variant,,ENST00000478727,;RGR,downstream_gene_variant,,ENST00000483660,;RGR,downstream_gene_variant,,ENST00000497161,;RGR,downstream_gene_variant,,ENST00000483744,;RGR,non_coding_transcript_exon_variant,,ENST00000483771,;	C	ENST00000359452	Transcript	stop_lost	925/2247	887/888	296/295	*/S	tGa/tCa	rs776462561	1		1	RGR	HGNC	HGNC:9990	protein_coding	YES	CCDS7374.1	ENSP00000352427	P47804	A0A0S2Z498	UPI0000072293	NM_002921.3,NM_001012720.1			7/7																			HIGH	1	SNV	1			1										PASS		rs776462561	.												C	4	2	27	84258638	84258638	G	C	1	0	0	0	0	0	0	0	0	13462	1285	45	4		4	RGR	10	84258638	Nonstop_Mutation	SNP	G	C3L-01862_TP	12507347	84258638	49538784	98	8037											
TBC1D12	0	.	GRCh38	chr10	94402850	94402850	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctcgcggcggccggggaGcagctggagccggggctctg	4	5	19	13	5	1	0	0	0	1	0	2	2	1	2	3	7	4	3	3	7	1	1	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.237G>A	p.=	p.E79E	ENST00000225235	1/13	118	93	25	155	155	0	strelka-varscan-mutect	TBC1D12,synonymous_variant,p.=,ENST00000225235,NM_015188.1;	A	ENST00000225235	Transcript	synonymous_variant	347/5272	237/2328	79/775	E	gaG/gaA		1		1	TBC1D12	HGNC	HGNC:29082	protein_coding	YES	CCDS41553.1	ENSP00000225235	O60347		UPI00001C1ED6	NM_015188.1			1/13																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	27	94402850	94402850	G	A	1	0	0	0	0	0	0	0	1	16001	962	34	3		3	TBC1D12	10	94402850	Silent	SNP	G	C3L-01862_TP	10144212	94402850	39394572	99	8038											
TLL2	0	.	GRCh38	chr10	96373724	96373724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcagaaacggcccagaatgGgggccaggctgtccggcccg	8	3	16	14	4	0	2	0	0	0	2	1	2	1	2	4	5	1	2	4	5	2	0	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.2534C>A	p.Pro845His	p.P845H	ENST00000357947	19/21	352	293	59	307	306	1	strelka-varscan-mutect	TLL2,missense_variant,p.Pro845His,ENST00000357947,NM_012465.3;TLL2,non_coding_transcript_exon_variant,,ENST00000506028,;	T	ENST00000357947	Transcript	missense_variant	2760/6756	2534/3048	845/1015	P/H	cCc/cAc		1		-1	TLL2	HGNC	HGNC:11844	protein_coding	YES	CCDS7449.1	ENSP00000350630	Q9Y6L7		UPI0000073AEE	NM_012465.3	tolerated(0.15)		19/21		PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF638,hmmpanther:PTHR10127,Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	96373724	96373724	G	T	1	0	0	0	0	1	0	0	0	16392	1232	43	2		2	TLL2	10	96373724	Missense_Mutation	SNP	G	C3L-01862_TP	1970874	96373724	37423698	100	8039											
TEAD1	0	.	GRCh38	chr11	12862259	12862259	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctttcaggtaggaatgAattgatagccagatacatca	13	13	8	7	0	3	3	2	2	1	1	3	4	3	4	1	2	2	1	1	2	5	6	novel		C3L-01862_TP	C3L-01862_NB	A	A																c.212A>C	p.Glu71Ala	p.E71A	ENST00000527636	4/13	314	271	43	352	352	0	strelka-varscan-mutect	TEAD1,missense_variant,p.Glu56Ala,ENST00000334310,;TEAD1,missense_variant,p.Glu71Ala,ENST00000527575,;TEAD1,missense_variant,p.Glu71Ala,ENST00000527636,NM_021961.5;TEAD1,non_coding_transcript_exon_variant,,ENST00000525312,;	C	ENST00000527636	Transcript	missense_variant	663/2544	212/1281	71/426	E/A	gAa/gCa		1		1	TEAD1	HGNC	HGNC:11714	protein_coding	YES	CCDS7810.2	ENSP00000435233		H0YE88	UPI000013D412	NM_021961.5	deleterious(0.03)		4/13		PROSITE_profiles:PS51088,hmmpanther:PTHR11834,PROSITE_patterns:PS00554,Pfam_domain:PF01285,PIRSF_domain:PIRSF002603,SMART_domains:SM00426,Prints_domain:PR00065																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	27	12862259	12862259	A	C	1	0	0	0	0	1	0	0	0	16149	246	9	5		5	TEAD1	11	12862259	Missense_Mutation	SNP	A	C3L-01862_TP		12862259	122224363	101	8040											
INSC	0	.	GRCh38	chr11	15112561	15112561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtccaggaggctgtgctGtgccgtatgtatctgggaag	7	10	17	7	1	1	0	0	0	1	0	2	3	2	3	2	4	2	4	2	4	3	2	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.92G>T	p.Cys31Phe	p.C31F	ENST00000379554	1/13	68	51	17	63	63	0	strelka-varscan-mutect	INSC,missense_variant,p.Cys31Phe,ENST00000379554,NM_001031853.4;INSC,upstream_gene_variant,,ENST00000379556,NM_001042536.2;	T	ENST00000379554	Transcript	missense_variant	138/2954	92/1740	31/579	C/F	tGt/tTt		1		1	INSC	HGNC	HGNC:33116	protein_coding	YES	CCDS41621.1	ENSP00000368872	Q1MX18		UPI0000D63F1D	NM_001031853.4	deleterious_low_confidence(0)		1/13		hmmpanther:PTHR21386:SF0,hmmpanther:PTHR21386																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	15112561	15112561	G	T	1	0	0	0	0	1	0	0	0	7666	1391	48	2		2	INSC	11	15112561	Missense_Mutation	SNP	G	C3L-01862_TP	2250302	15112561	119974061	102	8041											
NAV2	0	.	GRCh38	chr11	19713889	19713889	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaatcgcaggtgctgcaggGgctgcaggagccagcggggg	8	4	20	9	2	0	0	0	0	0	0	1	2	0	1	1	6	5	5	1	6	1	0	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.194G>C	p.Gly65Ala	p.G65A	ENST00000396087	1/41	242	204	38	188	187	1	strelka-varscan-mutect	NAV2,missense_variant,p.Gly65Ala,ENST00000527559,;NAV2,missense_variant,p.Gly65Ala,ENST00000540292,;NAV2,missense_variant,p.Gly65Ala,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.Gly65Ala,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.Gly65Ala,ENST00000396087,NM_001244963.1;NAV2,intron_variant,,ENST00000360655,NM_001111018.1;RP11-359E10.1,upstream_gene_variant,,ENST00000603468,;	C	ENST00000396087	Transcript	missense_variant	293/7882	194/7467	65/2488	G/A	gGg/gCg		1		1	NAV2	HGNC	HGNC:15997	protein_coding	YES	CCDS58126.1	ENSP00000379396	Q8IVL1		UPI00001E0580	NM_001244963.1	tolerated_low_confidence(0.09)		1/41		Superfamily_domains:SSF47576																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	27	19713889	19713889	G	C	1	0	0	0	0	1	0	0	0	10193	1232	43	4		4	NAV2	11	19713889	Missense_Mutation	SNP	G	C3L-01862_TP	4601328	19713889	115372733	103	8042											
NELL1	0	.	GRCh38	chr11	21573235	21573235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccccaacttgagctgtgaGtatacagctatcttagaagg	11	11	10	9	0	1	3	0	2	1	1	1	3	1	3	2	1	5	3	2	1	6	5			C3L-01862_TP	C3L-01862_NB	G	G																c.2292G>T	p.Glu764Asp	p.E764D	ENST00000298925	20/21	175	155	20	229	229	0	strelka-varscan-mutect	NELL1,missense_variant,p.Glu764Asp,ENST00000298925,NM_001288713.1;NELL1,missense_variant,p.Glu679Asp,ENST00000325319,NM_001288714.1;NELL1,missense_variant,p.Glu736Asp,ENST00000357134,NM_006157.4;NELL1,missense_variant,p.Glu689Asp,ENST00000532434,NM_201551.2;NELL1,non_coding_transcript_exon_variant,,ENST00000529218,;	T	ENST00000298925	Transcript	missense_variant	2445/3329	2292/2517	764/838	E/D	gaG/gaT	COSM5046249	1		1	NELL1	HGNC	HGNC:7750	protein_coding	YES	CCDS73267.1	ENSP00000298925		J3KNC5	UPI0000228C6F	NM_001288713.1	tolerated(0.33)		20/21		Pfam_domain:PF00093,PROSITE_patterns:PS01208,PROSITE_profiles:PS50184,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	27	21573235	21573235	G	T	1	0	0	0	0	1	0	0	0	10364	1020	36	2		2	NELL1	11	21573235	Missense_Mutation	SNP	G	C3L-01862_TP	1859346	21573235	113513387	104	8043											
TRIM49B	0	.	GRCh38	chr11	49032344	49032344	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcacagaaacctgaatgtGgaaaccaccagaaccagatg	18	5	8	10	0	1	4	1	1	0	3	1	5	1	5	4	1	3	0	4	1	5	0	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.480G>T	p.=	p.V160V	ENST00000622138	4/8	181	151	30	245	245	0	strelka-varscan-mutect	TRIM49B,synonymous_variant,p.=,ENST00000622138,;TRIM49B,synonymous_variant,p.=,ENST00000332682,NM_001206626.1;	T	ENST00000622138	Transcript	synonymous_variant	809/2162	480/1359	160/452	V	gtG/gtT		1		1	TRIM49B	HGNC	HGNC:42955	protein_coding	YES	CCDS55762.1	ENSP00000481457	A6NDI0		UPI000013EEA1				4/8		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	27	49032344	49032344	G	T	1	0	0	0	0	0	0	0	1	17015	1335	47	2		2	TRIM49B	11	49032344	Silent	SNP	G	C3L-01862_TP	27459109	49032344	86054278	105	8044											
FOLH1	0	.	GRCh38	chr11	49173453	49173453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacacccatgagtcccggtGacctcccagaatgacatatc	13	7	7	14	1	0	4	0	3	0	1	3	4	2	4	4	1	1	0	4	1	3	1	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.1129C>T	p.His377Tyr	p.H377Y	ENST00000256999	10/19	104	81	23	127	127	0	strelka-varscan-mutect	FOLH1,missense_variant,p.His362Tyr,ENST00000340334,NM_001193471.1;FOLH1,missense_variant,p.His377Tyr,ENST00000256999,NM_004476.1;FOLH1,missense_variant,p.His377Tyr,ENST00000356696,NM_001014986.1;FOLH1,missense_variant,p.His69Tyr,ENST00000343844,NM_001193473.1;FOLH1,missense_variant,p.His362Tyr,ENST00000533034,NM_001193472.1;FOLH1,non_coding_transcript_exon_variant,,ENST00000525629,;FOLH1,3_prime_UTR_variant,,ENST00000525826,;FOLH1,non_coding_transcript_exon_variant,,ENST00000458311,;	A	ENST00000256999	Transcript	missense_variant	1390/2635	1129/2253	377/750	H/Y	Cac/Tac		1		-1	FOLH1	HGNC	HGNC:3788	protein_coding	YES	CCDS7946.1	ENSP00000256999	Q04609		UPI0000000A01	NM_004476.1	deleterious(0)		10/19		Gene3D:3.40.630.10,Pfam_domain:PF04389,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF36,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	49173453	49173453	G	A	1	0	0	0	0	1	0	0	0	5840	1290	45	3		3	FOLH1	11	49173453	Missense_Mutation	SNP	G	C3L-01862_TP	141109	49173453	85913169	106	8045											
OR5T1	0	.	GRCh38	chr11	56276552	56276552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccatcatctacagtttgcGgaacaaagatgtaaaggagg	14	9	10	8	1	2	1	1	0	1	1	3	3	3	3	1	3	3	2	1	3	5	3	rs143790336		C3L-01862_TP	C3L-01862_NB	G	G																c.914G>A	p.Arg305Gln	p.R305Q	ENST00000313033	1/1	109	92	17	174	173	1	strelka-varscan-mutect	OR5T1,missense_variant,p.Arg305Gln,ENST00000313033,NM_001004745.1;	A	ENST00000313033	Transcript	missense_variant	914/981	914/981	305/326	R/Q	cGg/cAg	rs143790336,COSM4033856	1		1	OR5T1	HGNC	HGNC:14821	protein_coding	YES	CCDS31525.1	ENSP00000323612	Q8NG75	A0A126GVL6	UPI000004B22E	NM_001004745.1	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF33,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245											0,1						MODERATE	1	SNV			0,1	1										PASS		rs143790336	.												A	3	1	27	56276552	56276552	G	A	1	0	0	0	0	1	0	0	0	11249	1116	39	1		1	OR5T1	11	56276552	Missense_Mutation	SNP	G	C3L-01862_TP	7103099	56276552	78810070	107	8046											
GLYATL2	0	.	GRCh38	chr11	58834506	58834506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaccccaaattgttcagtgCctgtaggcttttctcattat	10	15	6	10	0	2	0	2	0	1	0	3	0	2	0	3	1	2	3	3	1	4	6	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.808G>T	p.Ala270Ser	p.A270S	ENST00000287275	6/6	106	83	23	135	133	2	strelka-varscan-mutect	GLYATL2,missense_variant,p.Ala270Ser,ENST00000287275,NM_145016.3;GLYATL2,missense_variant,p.Ala270Ser,ENST00000532258,;GLYATL2,downstream_gene_variant,,ENST00000533636,;	A	ENST00000287275	Transcript	missense_variant	1199/1640	808/885	270/294	A/S	Gca/Tca		1		-1	GLYATL2	HGNC	HGNC:24178	protein_coding	YES	CCDS41649.1	ENSP00000287275	Q8WU03	A0A024R4Z5	UPI000003FFB7	NM_145016.3	tolerated(0.55)		6/6		hmmpanther:PTHR15298,hmmpanther:PTHR15298:SF4,Gene3D:3.40.630.30,Pfam_domain:PF08444,Superfamily_domains:SSF55729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	58834506	58834506	C	A	1	0	0	0	0	1	0	0	0	6359	739	26	2		2	GLYATL2	11	58834506	Missense_Mutation	SNP	C	C3L-01862_TP	2557954	58834506	76252116	108	8047											
TSGA10IP	0	.	GRCh38	chr11	65947255	65947255	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccctcctcgttctcccagCgtcagtccaggcgcaagtcc	5	9	9	18	3	2	0	1	0	1	0	7	0	5	0	5	1	2	2	5	1	1	1	rs776914318		C3L-01862_TP	C3L-01862_NB	C	C																c.430C>A	p.Arg144Ser	p.R144S	ENST00000532620	3/8	269	229	40	242	242	0	strelka-varscan-mutect	TSGA10IP,missense_variant,p.Arg144Ser,ENST00000532620,NM_152762.2;TSGA10IP,missense_variant,p.Arg144Ser,ENST00000608857,;TSGA10IP,3_prime_UTR_variant,,ENST00000528291,;TSGA10IP,non_coding_transcript_exon_variant,,ENST00000531518,;TSGA10IP,intron_variant,,ENST00000534740,;	A	ENST00000532620	Transcript	missense_variant	661/1925	430/1671	144/556	R/S	Cgt/Agt	rs776914318	1		1	TSGA10IP	HGNC	HGNC:26555	protein_coding	YES	CCDS66138.1	ENSP00000484252	Q3SY00		UPI0000EE47ED	NM_152762.2	tolerated(0.4)		3/8		hmmpanther:PTHR21501,hmmpanther:PTHR21501:SF5,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs776914318	.												A	3	1	27	65947255	65947255	C	A	1	0	0	0	0	1	0	0	0	17124	768	27	1		1	TSGA10IP	11	65947255	Missense_Mutation	SNP	C	C3L-01862_TP	7112749	65947255	69139367	109	8048											
PC	0	.	GRCh38	chr11	66866234	66866234	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcgcggggtcctcggTggtgacccggcactggatgg	3	7	19	12	5	0	1	0	1	0	0	2	2	1	2	2	7	1	2	2	7	0	0	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.1138A>G	p.Thr380Ala	p.T380A	ENST00000393960	11/23	114	92	22	100	100	0	strelka-varscan-mutect	PC,missense_variant,p.Thr380Ala,ENST00000393960,NM_001040716.1;PC,missense_variant,p.Thr380Ala,ENST00000393958,NM_000920.3;PC,missense_variant,p.Thr380Ala,ENST00000393955,NM_022172.2;PC,missense_variant,p.Thr340Ala,ENST00000524491,;PC,missense_variant,p.Thr340Ala,ENST00000628663,;	C	ENST00000393960	Transcript	missense_variant	1420/4192	1138/3537	380/1178	T/A	Acc/Gcc		1		-1	PC	HGNC	HGNC:8636	protein_coding	YES	CCDS8152.1	ENSP00000377532	P11498	A0A024R5C5	UPI0000132BC4	NM_001040716.1	deleterious(0.01)		11/23		PROSITE_profiles:PS50979,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF110,Gene3D:3.30.470.20,TIGRFAM_domain:TIGR01235,Pfam_domain:PF02785,PIRSF_domain:PIRSF001594,SMART_domains:SM00878,Superfamily_domains:SSF51246,Superfamily_domains:SSF56059																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	27	66866234	66866234	T	C	1	0	0	0	0	1	0	0	0	11584	1696	59	5		5	PC	11	66866234	Missense_Mutation	SNP	T	C3L-01862_TP	918979	66866234	68220388	110	8049											
FAT3	0	.	GRCh38	chr11	92883266	92883266	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgtttcaccctgagtcGccccgcatcctgacagcccg	7	7	8	19	4	1	2	1	2	0	0	3	2	2	2	6	0	1	2	6	0	0	1	rs768838868		C3L-01862_TP	C3L-01862_NB	G	G																c.12360G>A	p.=	p.S4120S	ENST00000525166	23/27	257	220	37	232	231	1	strelka-varscan-mutect	FAT3,synonymous_variant,p.=,ENST00000409404,NM_001008781.2;FAT3,synonymous_variant,p.=,ENST00000525166,;FAT3,synonymous_variant,p.=,ENST00000533797,;FAT3,upstream_gene_variant,,ENST00000489716,;FAT3,upstream_gene_variant,,ENST00000469900,;	A	ENST00000525166	Transcript	synonymous_variant	12382/18699	12360/13320	4120/4439	S	tcG/tcA	rs768838868	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895				23/27		hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026																	LOW	1	SNV	5			1										PASS		rs768838868	.												A	2	1	27	92883266	92883266	G	A	1	0	0	0	0	0	0	0	1	5551	1074	38	1		1	FAT3	11	92883266	Silent	SNP	G	C3L-01862_TP	26017032	92883266	42203356	111	8050											
NFRKB	0	.	GRCh38	chr11	129882112	129882112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggctagcctgactctccaGcagcaagatctctaatagaa	14	8	8	11	0	2	3	0	1	2	2	4	3	2	3	2	1	3	3	2	1	6	3	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.1240C>A	p.Leu414Met	p.L414M	ENST00000524794	9/25	89	76	13	125	125	0	strelka-varscan-mutect	NFRKB,missense_variant,p.Leu389Met,ENST00000446488,NM_001143835.1;NFRKB,missense_variant,p.Leu414Met,ENST00000524794,NM_006165.3;NFRKB,missense_variant,p.Leu389Met,ENST00000524746,;NFRKB,missense_variant,p.Leu401Met,ENST00000531755,;NFRKB,downstream_gene_variant,,ENST00000532225,;NFRKB,downstream_gene_variant,,ENST00000529319,;NFRKB,downstream_gene_variant,,ENST00000530278,;	T	ENST00000524794	Transcript	missense_variant	1361/4351	1240/3975	414/1324	L/M	Ctg/Atg		1		-1	NFRKB	HGNC	HGNC:7802	protein_coding	YES	CCDS8483.1	ENSP00000436926	Q6P4R8		UPI000006E542	NM_006165.3	tolerated(0.19)		9/25		Low_complexity_(Seg):seg,hmmpanther:PTHR13052:SF0,hmmpanther:PTHR13052,Pfam_domain:PF14465																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	129882112	129882112	G	T	1	0	0	0	0	1	0	0	0	10420	962	34	2		2	NFRKB	11	129882112	Missense_Mutation	SNP	G	C3L-01862_TP	36998846	129882112	5204510	112	8051											
WNK1	0	.	GRCh38	chr12	861160	861160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaagagagcagtctcAaacagcaggtagaacaatcc	17	4	11	9	0	1	2	1	0	1	2	3	4	2	3	1	2	5	4	1	2	5	1	novel		C3L-01862_TP	C3L-01862_NB	A	A																c.1768A>G	p.Lys590Glu	p.K590E	ENST00000340908	7/28	214	170	44	295	294	1	strelka-varscan-mutect	WNK1,missense_variant,p.Lys590Glu,ENST00000530271,;WNK1,missense_variant,p.Lys590Glu,ENST00000537687,NM_001184985.1;WNK1,missense_variant,p.Lys590Glu,ENST00000340908,NM_213655.4;WNK1,missense_variant,p.Lys590Glu,ENST00000315939,NM_018979.3;WNK1,missense_variant,p.Lys590Glu,ENST00000535572,NM_014823.2;WNK1,upstream_gene_variant,,ENST00000535698,;WNK1,upstream_gene_variant,,ENST00000544965,;WNK1,upstream_gene_variant,,ENST00000545285,;WNK1,downstream_gene_variant,,ENST00000540360,;WNK1,downstream_gene_variant,,ENST00000538787,;	G	ENST00000340908	Transcript	missense_variant	2411/11208	1768/7905	590/2634	K/E	Aaa/Gaa		1		1	WNK1	HGNC	HGNC:14540	protein_coding	YES	CCDS73419.1	ENSP00000341292	Q9H4A3		UPI0001DD21C4	NM_213655.4	tolerated(0.21)		7/28		Gene3D:1.10.510.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF46,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	27	861160	861160	A	G	1	0	0	0	0	1	0	0	0	17933	131	5	5		5	WNK1	12	861160	Missense_Mutation	SNP	A	C3L-01862_TP		861160	132414149	113	8052											
KRAS	0	.	GRCh38	chr12	25227341	25227341	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcattgcactgtactcctcTtgacctgctgtgtcgagaat	7	14	8	12	1	2	2	1	1	1	1	4	3	3	2	2	0	3	3	2	0	2	3	rs17851045		C3L-01862_TP	C3L-01862_NB	T	T																c.183A>C	p.Gln61His	p.Q61H	ENST00000256078	3/6	151	117	34	201	201	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gln61His,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gln61His,ENST00000256078,NM_033360.3;KRAS,intron_variant,,ENST00000557334,;RP11-295I5.4,downstream_gene_variant,,ENST00000620933,;	G	ENST00000256078	Transcript	missense_variant	247/1119	183/570	61/189	Q/H	caA/caC	rs17851045,COSM1135364,COSM1146992,COSM554,COSM555	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0)		3/6		PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1	1										PASS		rs17851045	.												G	3	3	27	25227341	25227341	T	G	1	0	0	0	0	1	0	0	0	8318	1606	56	5		5	KRAS	12	25227341	Missense_Mutation	SNP	T	C3L-01862_TP	24366181	25227341	108047968	114	8053											
KRT6B	0	.	GRCh38	chr12	52452033	52452033	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagttggcactgaaaccccGgcggctgctgctgtggctcc	5	9	14	13	2	0	2	0	2	0	0	1	2	1	2	3	4	3	6	3	4	1	1	rs768946287		C3L-01862_TP	C3L-01862_NB	G	G																c.46C>A	p.=	p.R16R	ENST00000252252	1/9	317	274	43	238	238	0	varscan-mutect	KRT6B,synonymous_variant,p.=,ENST00000252252,NM_005555.3;	T	ENST00000252252	Transcript	synonymous_variant	94/2282	46/1695	16/564	R	Cgg/Agg	rs768946287	1		-1	KRT6B	HGNC	HGNC:6444	protein_coding	YES	CCDS8828.1	ENSP00000252252	P04259		UPI000013CD50	NM_005555.3			1/9		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs768946287	.												T	2	4	27	52452033	52452033	G	T	1	0	0	0	0	0	0	0	1	8363	1115	39	1		1	KRT6B	12	52452033	Silent	SNP	G	C3L-01862_TP	27224692	52452033	80823276	115	8054											
SDR9C7	0	.	GRCh38	chr12	56934058	56934058	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctgcagccgataggaggtAtcccgctgaagtttctggga	8	10	14	9	2	2	1	0	1	2	0	3	4	3	3	2	3	2	4	2	3	3	3	novel		C3L-01862_TP	C3L-01862_NB	A	A																c.204T>G	p.Asp68Glu	p.D68E	ENST00000293502	1/4	202	172	30	213	213	0	strelka-varscan-mutect	SDR9C7,missense_variant,p.Asp68Glu,ENST00000293502,NM_148897.2;	C	ENST00000293502	Transcript	missense_variant	348/1765	204/942	68/313	D/E	gaT/gaG		1		-1	SDR9C7	HGNC	HGNC:29958	protein_coding	YES	CCDS8926.1	ENSP00000293502	Q8NEX9		UPI0000046169	NM_148897.2	tolerated(1)		1/4		hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF646,Gene3D:3.40.50.720,Pfam_domain:PF00106,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	27	56934058	56934058	A	C	1	0	0	0	0	1	0	0	0	14250	446	16	5		5	SDR9C7	12	56934058	Missense_Mutation	SNP	A	C3L-01862_TP	4482025	56934058	76341251	116	8055											
SDR9C7	0	.	GRCh38	chr12	56934120	56934120	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagcacctgcatgccccGatcaaccagctgtttggcca	9	7	9	16	1	1	0	1	0	0	0	1	1	1	0	6	1	6	4	6	1	1	1	rs760003577		C3L-01862_TP	C3L-01862_NB	G	G																c.142C>A	p.=	p.R48R	ENST00000293502	1/4	322	268	54	311	311	0	strelka-varscan-mutect	SDR9C7,synonymous_variant,p.=,ENST00000293502,NM_148897.2;	T	ENST00000293502	Transcript	synonymous_variant	286/1765	142/942	48/313	R	Cgg/Agg	rs760003577	1		-1	SDR9C7	HGNC	HGNC:29958	protein_coding	YES	CCDS8926.1	ENSP00000293502	Q8NEX9		UPI0000046169	NM_148897.2			1/4		hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF646,Gene3D:3.40.50.720,Pfam_domain:PF00106,Superfamily_domains:SSF51735																	LOW	1	SNV	1			1										PASS		rs760003577	.												T	2	4	27	56934120	56934120	G	T	1	0	0	0	0	0	0	0	1	14250	1057	37	1		1	SDR9C7	12	56934120	Silent	SNP	G	C3L-01862_TP	62	56934120	76341189	117	8056											
DPY19L2	0	.	GRCh38	chr12	63644420	63644420	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctcaggtatgctccataCatgaagaacaatcccatcat	14	10	5	12	0	2	2	2	1	0	1	4	2	4	2	3	1	4	2	3	1	6	3	rs768747258		C3L-01862_TP	C3L-01862_NB	C	C																c.786G>T	p.Met262Ile	p.M262I	ENST00000324472	6/22	109	94	15	136	136	0	varscan-mutect	DPY19L2,missense_variant,p.Met262Ile,ENST00000324472,NM_173812.4;RP11-415I12.3,intron_variant,,ENST00000509615,;DPY19L2,3_prime_UTR_variant,,ENST00000306389,;	A	ENST00000324472	Transcript	missense_variant	970/4060	786/2277	262/758	M/I	atG/atT	rs768747258	1		-1	DPY19L2	HGNC	HGNC:19414	protein_coding	YES	CCDS31851.1	ENSP00000315988	Q6NUT2		UPI000006EC0C	NM_173812.4	tolerated(1)		6/22		Pfam_domain:PF10034,hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF6,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs768747258	.												A	3	1	27	63644420	63644420	C	A	1	0	0	0	0	1	0	0	0	4556	478	17	2		2	DPY19L2	12	63644420	Missense_Mutation	SNP	C	C3L-01862_TP	6710300	63644420	69630889	118	8057											
SNRPF	0	.	GRCh38	chr12	95866062	95866062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggaagaagatggggaaatGagagaatagcatcttttgtg	15	9	15	2	0	1	4	0	1	1	3	1	8	1	6	0	3	1	1	0	3	5	3	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.252G>A	p.Met84Ile	p.M84I	ENST00000266735	4/4	190	149	41	252	252	0	strelka-varscan-mutect	SNRPF,missense_variant,p.Met84Ile,ENST00000266735,NM_003095.2;SNRPF,intron_variant,,ENST00000552085,;SNRPF,intron_variant,,ENST00000553192,;CCDC38,downstream_gene_variant,,ENST00000344280,NM_182496.2;SNRPF,non_coding_transcript_exon_variant,,ENST00000549580,;SNRPF,downstream_gene_variant,,ENST00000551316,;CCDC38,downstream_gene_variant,,ENST00000549876,;CCDC38,downstream_gene_variant,,ENST00000546816,;	A	ENST00000266735	Transcript	missense_variant	398/1389	252/261	84/86	M/I	atG/atA		1		1	SNRPF	HGNC	HGNC:11162	protein_coding	YES	CCDS9055.1	ENSP00000266735	P62306		UPI0000027DBC	NM_003095.2	tolerated(0.09)		4/4		hmmpanther:PTHR11021,hmmpanther:PTHR11021:SF3,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	95866062	95866062	G	A	1	0	0	0	0	1	0	0	0	15188	1290	45	3		3	SNRPF	12	95866062	Missense_Mutation	SNP	G	C3L-01862_TP	32221642	95866062	37409247	119	8058											
PTPN11	0	.	GRCh38	chr12	112489160	112489160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgaaacactacagcgcagGattgaagaagagcaggtacc	16	6	11	8	1	0	4	0	2	0	2	0	5	0	5	1	2	5	3	1	2	5	4	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.1584G>T	p.Arg528Ser	p.R528S	ENST00000351677	13/16	494	409	85	507	507	0	strelka-varscan-mutect	PTPN11,missense_variant,p.Arg528Ser,ENST00000351677,NM_002834.3;PTPN11,missense_variant,p.Arg532Ser,ENST00000635625,;PTPN11,downstream_gene_variant,,ENST00000392597,NM_080601.1;PTPN11,downstream_gene_variant,,ENST00000635652,;	T	ENST00000351677	Transcript	missense_variant	1782/6101	1584/1782	528/593	R/S	agG/agT		1		1	PTPN11	HGNC	HGNC:9644	protein_coding	YES	CCDS9163.1	ENSP00000340944	Q06124		UPI000013296E	NM_002834.3	deleterious(0)		13/16		PIRSF_domain:PIRSF000929,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF150																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	112489160	112489160	G	T	1	0	0	0	0	1	0	0	0	12933	1165	41	2		2	PTPN11	12	112489160	Missense_Mutation	SNP	G	C3L-01862_TP	16623098	112489160	20786149	120	8059											
TPCN1	0	.	GRCh38	chr12	113292971	113292971	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgagaaggaaatctccaaAgaagagctggttgccgtcct	12	9	11	9	1	1	3	0	1	1	3	3	5	2	4	3	2	2	2	3	2	4	2	novel		C3L-01862_TP	C3L-01862_NB	A	A																c.2367A>C	p.Lys789Asn	p.K789N	ENST00000550785	27/29	116	98	18	130	129	1	strelka-varscan-mutect	TPCN1,missense_variant,p.Lys789Asn,ENST00000550785,NM_001143819.2;TPCN1,missense_variant,p.Lys717Asn,ENST00000335509,NM_017901.5;TPCN1,missense_variant,p.Lys789Asn,ENST00000541517,;TPCN1,missense_variant,p.Lys649Asn,ENST00000392569,NM_001301214.1;MIR6762,downstream_gene_variant,,ENST00000613340,;TPCN1,upstream_gene_variant,,ENST00000546787,;TPCN1,non_coding_transcript_exon_variant,,ENST00000552077,;TPCN1,non_coding_transcript_exon_variant,,ENST00000551127,;TPCN1,downstream_gene_variant,,ENST00000428632,;TPCN1,downstream_gene_variant,,ENST00000547955,;TPCN1,downstream_gene_variant,,ENST00000546907,;	C	ENST00000550785	Transcript	missense_variant	2536/5345	2367/2667	789/888	K/N	aaA/aaC		1		1	TPCN1	HGNC	HGNC:18182	protein_coding	YES	CCDS44985.1	ENSP00000448083	Q9ULQ1		UPI00004066FB	NM_001143819.2	tolerated(0.44)		27/29																			MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	27	113292971	113292971	A	C	1	0	0	0	0	1	0	0	0	16874	69	3	5		5	TPCN1	12	113292971	Missense_Mutation	SNP	A	C3L-01862_TP	803811	113292971	19982338	121	8060											
ULK1	0	.	GRCh38	chr12	131913759	131913759	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccacaggagctcactggtGgcctctgcgggcttggagag	6	7	15	13	1	2	1	1	0	1	1	2	3	2	2	3	5	2	2	3	5	0	1	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.1170G>T	p.=	p.V390V	ENST00000321867	15/28	35	29	6	27	27	0	strelka-varscan-mutect	ULK1,synonymous_variant,p.=,ENST00000321867,NM_003565.2;ULK1,upstream_gene_variant,,ENST00000541761,;ULK1,upstream_gene_variant,,ENST00000540647,;ULK1,downstream_gene_variant,,ENST00000537421,;ULK1,downstream_gene_variant,,ENST00000542313,;	T	ENST00000321867	Transcript	synonymous_variant	1521/5310	1170/3153	390/1050	V	gtG/gtT		1		1	ULK1	HGNC	HGNC:12558	protein_coding	YES	CCDS9274.1	ENSP00000324560	O75385		UPI00001FB0D9	NM_003565.2			15/28		PIRSF_domain:PIRSF000580,hmmpanther:PTHR24348,hmmpanther:PTHR24348:SF19																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	27	131913759	131913759	G	T	1	0	0	0	0	0	0	0	1	17499	1335	47	2		2	ULK1	12	131913759	Silent	SNP	G	C3L-01862_TP	18620788	131913759	1361550	122	8061											
RNF17	0	.	GRCh38	chr13	24799578	24799578	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattctgaagtcctgattgTcactgggtatgatattttat	11	17	8	5	0	2	3	1	3	1	0	3	3	3	3	1	1	0	1	1	1	5	6	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.1583T>A	p.Val528Asp	p.V528D	ENST00000255324	12/36	75	62	13	124	124	0	strelka-varscan-mutect	RNF17,missense_variant,p.Val528Asp,ENST00000255324,NM_031277.2,NM_001184993.1;RNF17,missense_variant,p.Val528Asp,ENST00000255325,;RNF17,upstream_gene_variant,,ENST00000418120,;RNF17,downstream_gene_variant,,ENST00000255326,;	A	ENST00000255324	Transcript	missense_variant	1635/5119	1583/4872	528/1623	V/D	gTc/gAc		1		1	RNF17	HGNC	HGNC:10060	protein_coding	YES	CCDS9308.2	ENSP00000255324	Q9BXT8		UPI00001FC8BA	NM_031277.2,NM_001184993.1	deleterious(0.02)		12/36		hmmpanther:PTHR16442																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	27	24799578	24799578	T	A	1	0	0	0	0	1	0	0	0	13638	1667	58	4		4	RNF17	13	24799578	Missense_Mutation	SNP	T	C3L-01862_TP		24799578	89564750	123	8062											
TRPC4	0	.	GRCh38	chr13	37637567	37637567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgtattgtggaaagtttgCttcctcttagtaatcccagg	9	16	9	7	0	1	0	0	0	1	0	3	1	3	1	2	2	1	4	2	2	4	7	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.2285G>T	p.Ser762Ile	p.S762I	ENST00000625583	10/10	88	71	17	114	114	0	strelka-varscan-mutect	TRPC4,missense_variant,p.Ser757Ile,ENST00000379705,NM_016179.2;TRPC4,missense_variant,p.Ser762Ile,ENST00000625583,NM_003306.1;TRPC4,missense_variant,p.Ser757Ile,ENST00000358477,NM_001135955.1;TRPC4,missense_variant,p.Ser584Ile,ENST00000338947,NM_001135958.1;TRPC4,missense_variant,p.Ser692Ile,ENST00000379673,NM_001135956.1;TRPC4,missense_variant,p.Ser584Ile,ENST00000379679,;TRPC4,3_prime_UTR_variant,,ENST00000426868,;TRPC4,intron_variant,,ENST00000355779,NM_001135957.1;TRPC4,3_prime_UTR_variant,,ENST00000488717,;	A	ENST00000625583	Transcript	missense_variant	2285/3009	2285/2949	762/982	S/I	aGc/aTc		1		-1	TRPC4	HGNC	HGNC:12336	protein_coding	YES	CCDS45037.1	ENSP00000486109	Q9UBN4		UPI000006E5BE	NM_003306.1	deleterious(0.02)		10/10		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF25,Prints_domain:PR01645																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	37637567	37637567	C	A	1	0	0	0	0	1	0	0	0	17085	797	28	2		2	TRPC4	13	37637567	Missense_Mutation	SNP	C	C3L-01862_TP	12837989	37637567	76726761	124	8063											
KLHL1	0	.	GRCh38	chr13	70107573	70107573	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgctcaaagctgccacTgccgtcctgttgcaggcagc	7	8	11	15	1	1	0	1	0	0	0	2	0	2	0	4	1	6	5	4	1	1	1	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.127A>T	p.Ser43Cys	p.S43C	ENST00000377844	1/11	44	35	9	101	101	0	strelka-varscan-mutect	KLHL1,missense_variant,p.Ser43Cys,ENST00000377844,NM_020866.2;KLHL1,missense_variant,p.Ser43Cys,ENST00000545028,NM_001286725.1;ATXN8OS,non_coding_transcript_exon_variant,,ENST00000414504,;ATXN8OS,upstream_gene_variant,,ENST00000424524,;	A	ENST00000377844	Transcript	missense_variant	887/4115	127/2247	43/748	S/C	Agt/Tgt		1		-1	KLHL1	HGNC	HGNC:6352	protein_coding	YES	CCDS9445.1	ENSP00000367075	Q9NR64		UPI000004B136	NM_020866.2	tolerated_low_confidence(0.25)		1/11																			MODERATE	1	SNV	1			1										PASS		rs1016613270	.												A	3	1	27	70107573	70107573	T	A	1	0	0	0	0	1	0	0	0	8229	1580	55	4		4	KLHL1	13	70107573	Missense_Mutation	SNP	T	C3L-01862_TP	32470006	70107573	44256755	125	8064											
OR6J1	0	.	GRCh38	chr14	22633891	22633891	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttcaaaaactcctcgAaccctgacccacacatccct	11	10	2	18	1	2	1	1	1	1	0	5	2	4	1	4	0	2	0	4	0	3	2	novel		C3L-01862_TP	C3L-01862_NB	A	A																c.921T>G	p.=	p.V307V	ENST00000540461	1/1	202	177	25	223	223	0	strelka-varscan-mutect	OR6J1,synonymous_variant,p.=,ENST00000540461,;AC243945.1,downstream_gene_variant,,ENST00000623775,;	C	ENST00000540461	Transcript	synonymous_variant	921/1044	921/1044	307/347	V	gtT/gtG		1		-1	OR6J1	HGNC	HGNC:14707	protein_coding	YES		ENSP00000437629	Q8NGC5		UPI000462094B				1/1		hmmpanther:PTHR26454:SF53,hmmpanther:PTHR26454,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												C	2	2	27	22633891	22633891	A	C	1	0	0	0	0	0	0	0	1	11270	233	9	5		5	OR6J1	14	22633891	Silent	SNP	A	C3L-01862_TP		22633891	84409827	126	8065											
RP11-244E17.1	0	.	GRCh38	chr14	23101708	23101708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacatgcggcagccttccagCatggggtctgaggagcagct	8	8	14	11	1	1	1	0	1	1	0	2	2	2	2	2	4	6	4	2	4	1	2	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.1437G>A	p.Met479Ile	p.M479I	ENST00000637218	12/16	270	239	31	289	289	0	strelka-varscan-mutect	RP11-244E17.1,missense_variant,p.Met479Ile,ENST00000637218,;C14orf119,downstream_gene_variant,,ENST00000319074,NM_017924.3;C14orf119,downstream_gene_variant,,ENST00000554203,;	T	ENST00000637218	Transcript	missense_variant	1509/2656	1437/2367	479/788	M/I	atG/atA		1		-1	RP11-244E17.1	Clone_based_vega_gene		protein_coding	YES		ENSP00000489869							12/16		hmmpanther:PTHR10942,hmmpanther:PTHR10942:SF6,Pfam_domain:PF01457,Superfamily_domains:SSF55486																	MODERATE		SNV				1										PASS		.	.												T	3	4	27	23101708	23101708	C	T	1	0	0	0	0	1	0	0	0	13723	710	25	3		3	RP11-244E17.1	14	23101708	Missense_Mutation	SNP	C	C3L-01862_TP	467817	23101708	83942010	127	8066											
FITM1	0	.	GRCh38	chr14	24132559	24132559	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagcagctgtgttcgcCaagtacctggcccatgggct	8	8	14	11	1	0	0	0	0	0	0	1	2	0	1	3	3	3	5	3	3	3	2	rs746849731		C3L-01862_TP	C3L-01862_NB	C	C																c.615C>A	p.=	p.A205A	ENST00000267426	2/2	256	225	31	308	308	0	strelka-varscan-mutect	FITM1,synonymous_variant,p.=,ENST00000267426,NM_203402.2;FITM1,synonymous_variant,p.=,ENST00000559294,;PSME1,upstream_gene_variant,,ENST00000382708,NM_176783.2;PSME1,upstream_gene_variant,,ENST00000559123,;PSME1,upstream_gene_variant,,ENST00000206451,NM_001281529.1,NM_006263.3;PSME1,upstream_gene_variant,,ENST00000561435,NM_001281528.1;RP11-468E2.6,downstream_gene_variant,,ENST00000558325,;PSME1,upstream_gene_variant,,ENST00000470718,;PSME1,upstream_gene_variant,,ENST00000561059,;PSME1,upstream_gene_variant,,ENST00000560420,;PSME1,upstream_gene_variant,,ENST00000561142,;PSME1,upstream_gene_variant,,ENST00000559741,;PSME1,upstream_gene_variant,,ENST00000558112,;	A	ENST00000267426	Transcript	synonymous_variant	904/1194	615/879	205/292	A	gcC/gcA	rs746849731	1		1	FITM1	HGNC	HGNC:33714	protein_coding	YES	CCDS9611.1	ENSP00000267426	A5D6W6		UPI000016146D	NM_203402.2			2/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR23129,hmmpanther:PTHR23129:SF3																	LOW	1	SNV	1			1										PASS		rs746849731	.												A	2	1	27	24132559	24132559	C	A	1	0	0	0	0	0	0	0	1	5761	581	21	2		2	FITM1	14	24132559	Silent	SNP	C	C3L-01862_TP	1030851	24132559	82911159	128	8067											
TRIM9	0	.	GRCh38	chr14	51094340	51094340	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcttggctaggggcccccgGggcgggtggcagcgcaggcg	3	5	21	12	4	0	0	0	0	0	0	0	0	0	0	2	8	2	4	2	8	1	2			C3L-01862_TP	C3L-01862_NB	G	G																c.600C>A	p.=	p.P200P	ENST00000298355	1/10	239	205	34	207	206	1	strelka-varscan-mutect	TRIM9,synonymous_variant,p.=,ENST00000298355,NM_015163.5;TRIM9,synonymous_variant,p.=,ENST00000360392,NM_052978.4;TRIM9,synonymous_variant,p.=,ENST00000338969,;RP11-1140I5.1,downstream_gene_variant,,ENST00000554475,;	T	ENST00000298355	Transcript	synonymous_variant	1722/5284	600/2133	200/710	P	ccC/ccA	COSM4246274,COSM4246275,COSM4246276	1		-1	TRIM9	HGNC	HGNC:16288	protein_coding	YES	CCDS9703.1	ENSP00000298355	Q9C026		UPI000006D630	NM_015163.5			1/10		PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF400,SMART_domains:SM00336											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												T	2	4	27	51094340	51094340	G	T	1	0	0	0	0	0	0	0	1	17046	1219	43	2		2	TRIM9	14	51094340	Silent	SNP	G	C3L-01862_TP	26961781	51094340	55949378	129	8068											
SYNE2	0	.	GRCh38	chr14	64130097	64130097	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagccaggtacacagaacTcagcagccctttcgtcactg	12	7	9	13	1	2	2	2	0	0	2	3	2	2	2	2	1	5	2	2	1	3	2	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.14189T>G	p.Leu4730Arg	p.L4730R	ENST00000358025	76/116	421	349	72	471	471	0	strelka-varscan-mutect	SYNE2,missense_variant,p.Leu4730Arg,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Leu4730Arg,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Leu4647Arg,ENST00000357395,;SYNE2,missense_variant,p.Leu4647Arg,ENST00000554584,;SYNE2,missense_variant,p.Leu1364Arg,ENST00000555002,;SYNE2,missense_variant,p.Leu1115Arg,ENST00000394768,;ESR2,intron_variant,,ENST00000556275,;	G	ENST00000358025	Transcript	missense_variant	14401/21842	14189/20724	4730/6907	L/R	cTc/cGc		1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2	deleterious(0)		76/116		hmmpanther:PTHR11915:SF317,hmmpanther:PTHR11915																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	27	64130097	64130097	T	G	1	0	0	0	0	1	0	0	0	15838	1551	54	5		5	SYNE2	14	64130097	Missense_Mutation	SNP	T	C3L-01862_TP	13035757	64130097	42913621	130	8069											
TTLL5	0	.	GRCh38	chr14	75793032	75793032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttacagctgaacttcagCggctagctgagaagcaggca	11	8	13	9	1	1	2	1	2	0	1	1	3	1	2	0	3	6	6	0	3	4	3	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.3103C>T	p.Arg1035Trp	p.R1035W	ENST00000298832	27/32	126	104	22	135	135	0	strelka-varscan-mutect	TTLL5,missense_variant,p.Arg1035Trp,ENST00000298832,NM_015072.4;TTLL5,missense_variant,p.Arg1050Trp,ENST00000557636,;TTLL5,missense_variant,p.Arg586Trp,ENST00000556893,;TTLL5,missense_variant,p.Arg544Trp,ENST00000554510,;TTLL5,upstream_gene_variant,,ENST00000555018,;	T	ENST00000298832	Transcript	missense_variant	3308/4683	3103/3846	1035/1281	R/W	Cgg/Tgg		1		1	TTLL5	HGNC	HGNC:19963	protein_coding	YES	CCDS32124.1	ENSP00000298832	Q6EMB2		UPI00003FF22B	NM_015072.4	deleterious(0)		27/32																			MODERATE	1	SNV	1			1										PASS		rs1348688599	.												T	3	4	27	75793032	75793032	C	T	1	0	0	0	0	1	0	0	0	17241	759	27	1		1	TTLL5	14	75793032	Missense_Mutation	SNP	C	C3L-01862_TP	11662935	75793032	31250686	131	8070											
TUBGCP5	0	.	GRCh38	chr15	23008774	23008774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagacacattctgccatGtttccttttctcttatttta	10	18	4	9	0	2	1	0	0	2	1	4	2	3	1	2	0	1	1	2	0	4	7	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.2252C>T	p.Thr751Ile	p.T751I	ENST00000615383	16/23	183	155	28	221	221	0	strelka-varscan-mutect	TUBGCP5,missense_variant,p.Thr751Ile,ENST00000615383,NM_052903.4;TUBGCP5,missense_variant,p.Thr751Ile,ENST00000620435,NM_001102610.1;TUBGCP5,missense_variant,p.Thr37Ile,ENST00000610294,;TUBGCP5,downstream_gene_variant,,ENST00000615455,;TUBGCP5,missense_variant,p.Thr751Ile,ENST00000614508,;TUBGCP5,non_coding_transcript_exon_variant,,ENST00000613552,;TUBGCP5,upstream_gene_variant,,ENST00000620238,;	A	ENST00000615383	Transcript	missense_variant	2382/3849	2252/3075	751/1024	T/I	aCa/aTa		1		-1	TUBGCP5	HGNC	HGNC:18600	protein_coding	YES	CCDS73698.1	ENSP00000480316	Q96RT8		UPI000012B2EE	NM_052903.4	tolerated(0.35)		16/23		hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF33,Pfam_domain:PF04130																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	23008774	23008774	G	A	1	0	0	0	0	1	0	0	0	17279	1377	48	3		3	TUBGCP5	15	23008774	Missense_Mutation	SNP	G	C3L-01862_TP		23008774	78982415	132	8071											
STARD9	0	.	GRCh38	chr15	42686773	42686773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataccttcactctgctccctGgaatccattgtcatcttccc	7	14	4	16	0	4	0	2	0	2	0	7	1	7	1	4	1	2	1	4	1	2	4	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.5195G>T	p.Trp1732Leu	p.W1732L	ENST00000290607	23/33	169	133	36	221	221	0	strelka-varscan-mutect	STARD9,missense_variant,p.Trp1732Leu,ENST00000290607,NM_020759.2;STARD9,upstream_gene_variant,,ENST00000562619,;STARD9,downstream_gene_variant,,ENST00000562139,;	T	ENST00000290607	Transcript	missense_variant	5252/15567	5195/14103	1732/4700	W/L	tGg/tTg		1		1	STARD9	HGNC	HGNC:19162	protein_coding	YES	CCDS53935.1	ENSP00000290607	Q9P2P6		UPI0001BE8155	NM_020759.2	deleterious(0.01)		23/33																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	27	42686773	42686773	G	T	1	0	0	0	0	1	0	0	0	15639	1357	47	2		2	STARD9	15	42686773	Missense_Mutation	SNP	G	C3L-01862_TP	19677999	42686773	59304416	133	8072											
ALPK3	0	.	GRCh38	chr15	84859846	84859846	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactgcggtgtgtatcggTgcaccatccacaatgagcac	10	9	11	11	2	0	2	0	1	0	1	2	2	1	2	2	2	3	3	2	2	3	2	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.4642T>C	p.Cys1548Arg	p.C1548R	ENST00000258888	8/14	228	191	37	222	222	0	strelka-varscan-mutect	ALPK3,missense_variant,p.Cys1548Arg,ENST00000258888,NM_020778.4;ALPK3,upstream_gene_variant,,ENST00000558077,;	C	ENST00000258888	Transcript	missense_variant	4809/10917	4642/5724	1548/1907	C/R	Tgc/Cgc		1		1	ALPK3	HGNC	HGNC:17574	protein_coding	YES	CCDS10333.1	ENSP00000258888	Q96L96		UPI000013D013	NM_020778.4	deleterious(0)		8/14		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF667,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	27	84859846	84859846	T	C	1	0	0	0	0	1	0	0	0	646	1696	59	5		5	ALPK3	15	84859846	Missense_Mutation	SNP	T	C3L-01862_TP	42173073	84859846	17131343	134	8073											
RBBP6	0	.	GRCh38	chr16	24540750	24540750	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagagaagctgaaagctGccgactgcgacctgcagatc	12	5	14	10	2	0	4	0	1	0	3	1	8	0	4	2	1	5	3	2	1	2	0	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.124G>T	p.Ala42Ser	p.A42S	ENST00000319715	1/18	117	102	15	111	110	1	strelka-varscan-mutect	RBBP6,missense_variant,p.Ala42Ser,ENST00000319715,NM_006910.4;RBBP6,missense_variant,p.Ala42Ser,ENST00000348022,NM_018703.3;RBBP6,missense_variant,p.Ala42Ser,ENST00000381039,;RBBP6,missense_variant,p.Ala42Ser,ENST00000567686,;RBBP6,missense_variant,p.Ala42Ser,ENST00000452655,NM_032626.5;RBBP6,missense_variant,p.Ala42Ser,ENST00000568015,;RBBP6,intron_variant,,ENST00000564314,;RBBP6,downstream_gene_variant,,ENST00000568316,;	T	ENST00000319715	Transcript	missense_variant	556/6229	124/5379	42/1792	A/S	Gcc/Tcc		1		1	RBBP6	HGNC	HGNC:9889	protein_coding	YES	CCDS10621.1	ENSP00000317872	Q7Z6E9		UPI00001A96B8	NM_006910.4	tolerated_low_confidence(0.06)		1/18		PROSITE_profiles:PS51282,hmmpanther:PTHR15439,hmmpanther:PTHR15439:SF3,Pfam_domain:PF08783,SMART_domains:SM01180																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	24540750	24540750	G	T	1	0	0	0	0	1	0	0	0	13264	1319	46	2		2	RBBP6	16	24540750	Missense_Mutation	SNP	G	C3L-01862_TP		24540750	65797595	135	8074											
ITGAM	0	.	GRCh38	chr16	31297524	31297524	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctttcagatcggcgcctActtcggggcctccctctgct	3	13	9	16	3	3	1	1	0	2	1	7	1	4	1	3	3	2	1	3	3	1	3	novel		C3L-01862_TP	C3L-01862_NB	A	A																c.1367A>G	p.Tyr456Cys	p.Y456C	ENST00000544665	13/30	420	361	59	359	359	0	strelka-varscan-mutect	ITGAM,missense_variant,p.Tyr456Cys,ENST00000544665,NM_001145808.1;ITGAM,missense_variant,p.Tyr456Cys,ENST00000287497,NM_000632.3;ITGAM,synonymous_variant,p.=,ENST00000567031,;	G	ENST00000544665	Transcript	missense_variant	1438/4718	1367/3462	456/1153	Y/C	tAc/tGc		1		1	ITGAM	HGNC	HGNC:6149	protein_coding	YES	CCDS54004.1	ENSP00000441691	P11215		UPI000004B26A	NM_001145808.1	deleterious(0)		13/30		Gene3D:3nigC00,Prints_domain:PR01185,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,SMART_domains:SM00191,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	27	31297524	31297524	A	G	1	0	0	0	0	1	0	0	0	7794	391	14	5		5	ITGAM	16	31297524	Missense_Mutation	SNP	A	C3L-01862_TP	6756774	31297524	59040821	136	8075											
CDH8	0	.	GRCh38	chr16	61817564	61817564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcattttcatgaacttcaaGtaggtaagtcggtgaagaga	14	11	11	5	1	2	3	2	2	0	1	3	4	2	3	0	2	2	3	0	2	5	5	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.1192C>T	p.Leu398Phe	p.L398F	ENST00000577390	7/12	248	203	45	236	236	0	strelka-varscan-mutect	CDH8,missense_variant,p.Leu398Phe,ENST00000577390,NM_001796.4;CDH8,missense_variant,p.Leu398Phe,ENST00000577730,;CDH8,missense_variant,p.Leu398Phe,ENST00000584337,;CDH8,missense_variant,p.Leu398Phe,ENST00000299345,;CDH8,missense_variant,p.Leu398Phe,ENST00000583382,;CDH8,missense_variant,p.Leu398Phe,ENST00000585315,;CDH8,non_coding_transcript_exon_variant,,ENST00000582242,;	A	ENST00000577390	Transcript	missense_variant	2147/9721	1192/2400	398/799	L/F	Ctt/Ttt		1		-1	CDH8	HGNC	HGNC:1767	protein_coding	YES	CCDS10802.1	ENSP00000462701	P55286		UPI0000126D9F	NM_001796.4	tolerated(0.24)		7/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF273,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	61817564	61817564	G	A	1	0	0	0	0	1	0	0	0	2819	1029	36	3		3	CDH8	16	61817564	Missense_Mutation	SNP	G	C3L-01862_TP	30520040	61817564	28520781	137	8076											
PIEZO1	0	.	GRCh38	chr16	88736333	88736333	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggccagttggtggcggcTgcgcaccgtccagatgaggc	6	7	16	12	3	0	2	0	1	0	1	1	2	1	2	3	5	1	3	3	5	0	1	novel		C3L-01862_TP	C3L-01862_NB	T	T																c.1372A>G	p.Ser458Gly	p.S458G	ENST00000301015	12/51	238	190	48	183	182	1	strelka-varscan-mutect	PIEZO1,missense_variant,p.Ser458Gly,ENST00000301015,NM_001142864.2;RP5-1142A6.2,intron_variant,,ENST00000440406,;RP5-1142A6.2,upstream_gene_variant,,ENST00000567968,;PIEZO1,upstream_gene_variant,,ENST00000490756,;	C	ENST00000301015	Transcript	missense_variant	1619/8072	1372/7566	458/2521	S/G	Agc/Ggc		1		-1	PIEZO1	HGNC	HGNC:28993	protein_coding	YES	CCDS54058.1	ENSP00000301015	Q92508		UPI0001B300F3	NM_001142864.2	deleterious(0.03)		12/51		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF40																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	27	88736333	88736333	T	C	1	0	0	0	0	1	0	0	0	11974	1580	55	5		5	PIEZO1	16	88736333	Missense_Mutation	SNP	T	C3L-01862_TP	26918769	88736333	1602012	138	8077											
PDK2	0	.	GRCh38	chr17	50108331	50108331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccgcagaatgccatgaggGcgactgtggaaagccatgag	11	6	14	10	2	0	3	0	2	0	1	1	5	1	4	3	2	2	1	3	2	2	0	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.775G>T	p.Ala259Ser	p.A259S	ENST00000503176	8/11	209	167	42	237	237	0	strelka-varscan-mutect	PDK2,missense_variant,p.Ala259Ser,ENST00000503176,NM_002611.4;PDK2,missense_variant,p.Ala195Ser,ENST00000614357,NM_001199899.1;PDK2,missense_variant,p.Ala195Ser,ENST00000007708,NM_001199898.1;PDK2,missense_variant,p.Ala195Ser,ENST00000503614,;SAMD14,downstream_gene_variant,,ENST00000330175,NM_001257359.1;SAMD14,downstream_gene_variant,,ENST00000285206,;SAMD14,downstream_gene_variant,,ENST00000503131,NM_174920.3;PDK2,downstream_gene_variant,,ENST00000505440,;PDK2,downstream_gene_variant,,ENST00000512238,;PDK2,downstream_gene_variant,,ENST00000508030,;PDK2,downstream_gene_variant,,ENST00000510219,;PDK2,non_coding_transcript_exon_variant,,ENST00000512204,;PDK2,non_coding_transcript_exon_variant,,ENST00000506647,;SAMD14,downstream_gene_variant,,ENST00000508892,;SAMD14,downstream_gene_variant,,ENST00000573376,;PDK2,downstream_gene_variant,,ENST00000505897,;PDK2,downstream_gene_variant,,ENST00000515040,;PDK2,downstream_gene_variant,,ENST00000503076,;PDK2,downstream_gene_variant,,ENST00000506242,;	T	ENST00000503176	Transcript	missense_variant	936/3440	775/1224	259/407	A/S	Gcg/Tcg		1		1	PDK2	HGNC	HGNC:8810	protein_coding	YES	CCDS11559.1	ENSP00000420927	Q15119		UPI000000D98D	NM_002611.4	deleterious(0)		8/11		Gene3D:3.30.565.10,Pfam_domain:PF02518,PROSITE_profiles:PS50109,hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF15,SMART_domains:SM00387,Superfamily_domains:SSF55874																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	50108331	50108331	G	T	1	0	0	0	0	1	0	0	0	11764	1203	42	2		2	PDK2	17	50108331	Missense_Mutation	SNP	G	C3L-01862_TP		50108331	33149110	139	8078											
RBFOX3	0	.	GRCh38	chr17	79101631	79101631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtcatcactcgggccGtggcattattgacctgttca	6	14	11	10	2	3	1	3	1	0	0	4	1	3	1	2	3	0	3	2	3	1	4			C3L-01862_TP	C3L-01862_NB	G	G																c.521C>T	p.Thr174Met	p.T174M	ENST00000580155	9/15	393	333	60	323	323	0	strelka-varscan-mutect	RBFOX3,missense_variant,p.Thr173Met,ENST00000583458,;RBFOX3,missense_variant,p.Thr174Met,ENST00000584778,;RBFOX3,missense_variant,p.Thr174Met,ENST00000580155,NM_001082575.2;RBFOX3,missense_variant,p.Thr143Met,ENST00000582043,;RBFOX3,upstream_gene_variant,,ENST00000582880,;RBFOX3,upstream_gene_variant,,ENST00000582894,;RBFOX3,upstream_gene_variant,,ENST00000578998,;RBFOX3,upstream_gene_variant,,ENST00000581393,;	A	ENST00000580155	Transcript	missense_variant	1034/1519	521/939	174/312	T/M	aCg/aTg	COSM2802458,COSM2802459	1		-1	RBFOX3	HGNC	HGNC:27097	protein_coding	YES	CCDS45805.1	ENSP00000463653	A6NFN3		UPI000020041C	NM_001082575.2	deleterious(0)		9/15		PROSITE_profiles:PS50102,hmmpanther:PTHR15597,Gene3D:3.30.70.330,PIRSF_domain:PIRSF037932,Superfamily_domains:SSF54928											1,1						MODERATE	1	SNV	2		1,1	1										PASS		rs1207425560	.												A	3	1	27	79101631	79101631	G	A	1	0	0	0	0	1	0	0	0	13273	1145	40	1		1	RBFOX3	17	79101631	Missense_Mutation	SNP	G	C3L-01862_TP	28993300	79101631	4155810	140	8079											
LAMA1	0	.	GRCh38	chr18	6974924	6974924	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctacatggatactgtgcCatctgttgtcatcaatggga	9	13	11	8	0	3	0	2	0	1	0	3	2	3	2	1	3	3	2	1	3	3	3	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.6602G>T	p.Trp2201Leu	p.W2201L	ENST00000389658	46/63	357	295	62	344	344	0	strelka-varscan-mutect	LAMA1,missense_variant,p.Trp2201Leu,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,upstream_gene_variant,,ENST00000484335,;	A	ENST00000389658	Transcript	missense_variant	6696/9657	6602/9228	2201/3075	W/L	tGg/tTg		1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	deleterious(0)		46/63		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	27	6974924	6974924	C	A	1	0	0	0	0	1	0	0	0	8509	595	21	2		2	LAMA1	18	6974924	Missense_Mutation	SNP	C	C3L-01862_TP		6974924	73398361	141	8080											
MOCOS	0	.	GRCh38	chr18	36220074	36220074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtgaccaggtggcctgtagGaaaccaagggctgctatatg	10	8	15	8	0	0	1	0	1	0	0	0	2	0	2	3	5	2	3	3	5	5	3	rs571933510		C3L-01862_TP	C3L-01862_NB	G	G																c.1817G>C	p.Gly606Ala	p.G606A	ENST00000261326	9/15	478	396	82	484	484	0	strelka-varscan-mutect	MOCOS,missense_variant,p.Gly606Ala,ENST00000261326,NM_017947.2;	C	ENST00000261326	Transcript	missense_variant	1838/6160	1817/2667	606/888	G/A	gGa/gCa	rs571933510	1		1	MOCOS	HGNC	HGNC:18234	protein_coding	YES	CCDS11919.1	ENSP00000261326	Q96EN8		UPI000013D165	NM_017947.2	deleterious(0.01)		9/15		Superfamily_domains:0052540,HAMAP:MF_03050,Pfam_domain:PF03476																	MODERATE	1	SNV	1			1										PASS		rs571933510	.												C	3	2	27	36220074	36220074	G	C	1	0	0	0	0	1	0	0	0	9652	1174	41	4		4	MOCOS	18	36220074	Missense_Mutation	SNP	G	C3L-01862_TP	29245150	36220074	44153211	142	8081											
STK11	0	.	GRCh38	chr19	1207093	1207093	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgggggaaggctcttaCggcaaggtgaaggaggtgct	8	8	18	7	1	1	1	0	1	1	0	1	3	1	3	0	7	3	4	0	7	4	1	rs778376925		C3L-01862_TP	C3L-01862_NB	C	C																c.180C>A	p.Tyr60Ter	p.Y60*	ENST00000326873	1/10	284	230	54	290	290	0	strelka-varscan-mutect	STK11,stop_gained,p.Tyr60Ter,ENST00000586243,;STK11,stop_gained,p.Tyr60Ter,ENST00000326873,NM_000455.4;STK11,stop_gained,p.Tyr60Ter,ENST00000585851,;STK11,intron_variant,,ENST00000585748,;STK11,stop_gained,p.Tyr60Ter,ENST00000593219,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;HMGB2P1,downstream_gene_variant,,ENST00000591146,;	A	ENST00000326873	Transcript	stop_gained	630/2611	180/1302	60/433	Y/*	taC/taA	rs778376925,CD064644,CM981863,CM991149,KinMutBase_STK11_DNA:g.1180C>G,COSM20874,COSM27322,COSM48900,COSM5328246,COSM5490514	1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4			1/10		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,0,0,0,0,1,1,1,1,1						HIGH	1	SNV	1		0,1,1,1,0,1,1,1,1,1	1										PASS		rs778376925	.												A	4	1	27	1207093	1207093	C	A	1	0	0	0	0	0	1	0	0	15664	547	19	1		1	STK11	19	1207093	Nonsense_Mutation	SNP	C	C3L-01862_TP		1207093	57410523	143	8082											
CLEC4G	0	.	GRCh38	chr19	7731704	7731704	+	Frame_Shift_Del	DEL	G	G	-																															atcacagcccaaaggactgtGgtgaccaggacagccagggc																								rs759251117		C3L-01862_TP	C3L-01862_NB	G	G																c.123delC	p.Thr42GlnfsTer6	p.T42Qfs*6	ENST00000328853	2/9	163	130	33	196	196	0	sindel-varindel-pindel	CLEC4G,frameshift_variant,p.Thr42GlnfsTer6,ENST00000328853,NM_198492.3,NM_001244856.1;CLEC4G,frameshift_variant,p.Thr84GlnfsTer6,ENST00000599020,;CLEC4G,non_coding_transcript_exon_variant,,ENST00000598081,;	-	ENST00000328853	Transcript	frameshift_variant	192/1360	123/882	41/293	T/X	acC/ac	rs759251117	1		-1	CLEC4G	HGNC	HGNC:24591	protein_coding	YES	CCDS12185.1	ENSP00000327599	Q6UXB4	Q08G24	UPI000004C65D	NM_198492.3,NM_001244856.1			2/9		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF245																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	27	7731704	7731704	G	-	1	0	1	0	1	0	0	0	0	3285	1335	47	0		0	CLEC4G	19	7731704	Frame_Shift_Del	DEL	G	C3L-01862_TP	6524611	7731704	50885912	144	8083											
MYO1F	0	.	GRCh38	chr19	8550291	8550291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggctgtccatcttgcGgctggtcagcttctcctgca	4	11	11	15	2	3	0	1	0	2	0	5	0	4	0	3	3	4	4	3	3	0	2	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.970C>A	p.Arg324Ser	p.R324S	ENST00000338257	10/28	176	135	41	190	189	1	strelka-varscan-mutect	MYO1F,missense_variant,p.Arg324Ser,ENST00000338257,NM_012335.3;MYO1F,missense_variant,p.Arg324Ser,ENST00000613525,;MYO1F,downstream_gene_variant,,ENST00000596675,;AC092316.1,downstream_gene_variant,,ENST00000598703,;MYO1F,non_coding_transcript_exon_variant,,ENST00000594977,;MYO1F,non_coding_transcript_exon_variant,,ENST00000595191,;MYO1F,non_coding_transcript_exon_variant,,ENST00000600825,;MYO1F,non_coding_transcript_exon_variant,,ENST00000596937,;MYO1F,downstream_gene_variant,,ENST00000595325,;MYO1F,downstream_gene_variant,,ENST00000594774,;MYO1F,downstream_gene_variant,,ENST00000598529,;MYO1F,upstream_gene_variant,,ENST00000602136,;MYO1F,downstream_gene_variant,,ENST00000598321,;MYO1F,downstream_gene_variant,,ENST00000599123,;MYO1F,upstream_gene_variant,,ENST00000601502,;	T	ENST00000338257	Transcript	missense_variant	1238/4303	970/3297	324/1098	R/S	Cgc/Agc		1		-1	MYO1F	HGNC	HGNC:7600	protein_coding	YES	CCDS42494.1	ENSP00000344871	O00160		UPI00001678F0	NM_012335.3	deleterious(0)		10/28		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF288,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	8550291	8550291	G	T	1	0	0	0	0	1	0	0	0	10074	1116	39	1		1	MYO1F	19	8550291	Missense_Mutation	SNP	G	C3L-01862_TP	818587	8550291	50067325	145	8084											
MUC16	0	.	GRCh38	chr19	8965653	8965653	+	Missense_Mutation	SNP	G	G	T																															ctgtagaaaccattgaaacaGgcacatcttctgcttctgta																								rs368422707		C3L-01862_TP	C3L-01862_NB	G	G																c.11117C>A	p.Pro3706His	p.P3706H	ENST00000397910	3/84	92	78	14	159	159	0	strelka-varscan-mutect	MUC16,missense_variant,p.Pro3706His,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	11321/43816	11117/43524	3706/14507	P/H	cCt/cAt	rs368422707	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			MODERATE	1	SNV	5			1										PASS		rs368422707	.												T	3	4	27	8965653	8965653	G	T	1	0	0	0	0	1	0	0	0	9972	1000	35	2		2	MUC16	19	8965653	Missense_Mutation	SNP	G	C3L-01862_TP	415362	8965653	49651963	146	8085	183	2									
MUC16	0	.	GRCh38	chr19	8965654	8965654	+	Missense_Mutation	SNP	G	G	T																															tgtagaaaccattgaaacagGcacatcttctgcttctgtac																								novel		C3L-01862_TP	C3L-01862_NB	G	G																c.11116C>A	p.Pro3706Thr	p.P3706T	ENST00000397910	3/84	90	77	13	158	158	0	strelka-varscan-mutect	MUC16,missense_variant,p.Pro3706Thr,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	11320/43816	11116/43524	3706/14507	P/T	Cct/Act		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	27	8965654	8965654	G	T	1	0	0	0	0	1	0	0	0	9972	1203	42	2		2	MUC16	19	8965654	Missense_Mutation	SNP	G	C3L-01862_TP	1	8965654	49651962	147	8086	183	2									
ZNF317	0	.	GRCh38	chr19	9160897	9160897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatcgtcaagaaacccGtggaatgtcggcagtgcggg	10	8	13	10	4	2	1	2	0	0	1	4	2	2	2	1	3	2	1	1	3	3	1	rs781139661		C3L-01862_TP	C3L-01862_NB	G	G																c.1252G>T	p.Val418Leu	p.V418L	ENST00000247956	7/7	196	159	37	271	271	0	strelka-varscan-mutect	ZNF317,missense_variant,p.Val418Leu,ENST00000247956,NM_020933.4;ZNF317,missense_variant,p.Val386Leu,ENST00000360385,NM_001190791.1;ZNF317,intron_variant,,ENST00000591508,;ZNF317,3_prime_UTR_variant,,ENST00000591278,;ZNF317,non_coding_transcript_exon_variant,,ENST00000590152,;ZNF317,downstream_gene_variant,,ENST00000419608,;	T	ENST00000247956	Transcript	missense_variant	1557/4073	1252/1788	418/595	V/L	Gtg/Ttg	rs781139661,COSM2701801	1		1	ZNF317	HGNC	HGNC:13507	protein_coding	YES	CCDS12210.1	ENSP00000247956	Q96PQ6	A0A024R7B1	UPI0000366D00	NM_020933.4	deleterious(0.02)		7/7		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF22,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs781139661	.												T	3	4	27	9160897	9160897	G	T	1	0	0	0	0	1	0	0	0	18410	1145	40	1		1	ZNF317	19	9160897	Missense_Mutation	SNP	G	C3L-01862_TP	195243	9160897	49456719	148	8087											
OR7E24	0	.	GRCh38	chr19	9251076	9251076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaattctctttttttttttCctcaaaaggtgtccgagcta	8	18	5	10	1	2	0	1	0	1	0	5	1	4	0	3	1	1	1	3	1	4	7	rs756873275		C3L-01862_TP	C3L-01862_NB	C	C																c.33C>T	p.=	p.F11F	ENST00000456448	1/1	37	32	5	92	91	1	varscan-mutect	OR7E24,synonymous_variant,p.=,ENST00000456448,NM_001079935.1;	T	ENST00000456448	Transcript	synonymous_variant	147/1550	33/1020	11/339	F	ttC/ttT	rs756873275	1		1	OR7E24	HGNC	HGNC:8396	protein_coding	YES	CCDS45955.1	ENSP00000387523	Q6IFN5		UPI00003B2886	NM_001079935.1			1/1																			LOW	1	SNV				1										PASS		rs1173215882	.												T	2	4	27	9251076	9251076	C	T	1	0	0	0	0	0	0	0	1	11291	854	30	3		3	OR7E24	19	9251076	Silent	SNP	C	C3L-01862_TP	90179	9251076	49366540	149	8088											
KEAP1	0	.	GRCh38	chr19	10489271	10489274	+	Frame_Shift_Del	DEL	CGTC	CGTC	-																															atgggggctacgaaagtccaCgtctctgtttccacatcgta																								novel		C3L-01862_TP	C3L-01862_NB	CGTC	CGTC																c.1626_1629delGACG	p.Glu542AspfsTer5	p.E542Dfs*5	ENST00000171111	5/6	141	118	23	141	141	0	sindel-varindel-pindel	KEAP1,frameshift_variant,p.Glu542AspfsTer5,ENST00000171111,NM_203500.1;KEAP1,frameshift_variant,p.Glu542AspfsTer5,ENST00000393623,NM_012289.3;KEAP1,intron_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000592055,;CTC-429L19.3,downstream_gene_variant,,ENST00000592671,;KEAP1,downstream_gene_variant,,ENST00000588024,;KEAP1,3_prime_UTR_variant,,ENST00000590593,;KEAP1,non_coding_transcript_exon_variant,,ENST00000590237,;KEAP1,downstream_gene_variant,,ENST00000585845,;	-	ENST00000171111	Transcript	frameshift_variant	2174-2177/2955	1626-1629/1875	542-543/624	ET/X	gaGACG/ga		1		-1	KEAP1	HGNC	HGNC:23177	protein_coding	YES	CCDS12239.1	ENSP00000171111	Q14145	A0A024R7C0	UPI000007139C	NM_203500.1			5/6		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	27	10489271	10489271	CGTC	-	1	0	1	0	1	0	0	0	0	8061	523	19	0		0	KEAP1	19	10489271	Frame_Shift_Del	DEL	CGTC	C3L-01862_TP	1238195	10489271	48128345	150	8089											
SMARCA4	0	.	GRCh38	chr19	10984360	10984361	+	Frame_Shift_Ins	INS	-	-	C																															taccctcaggacaacatgcaINSccagatgcacaaggtaggga																								novel		C3L-01862_TP	C3L-01862_NB	-	-																c.211dupC	p.Gln71ProfsTer11	p.Q71Pfs*11	ENST00000429416	3/36	199	157	42	297	297	0	sindel-varindel-pindel	SMARCA4,frameshift_variant,p.Gln71ProfsTer11,ENST00000429416,NM_001128844.1;SMARCA4,frameshift_variant,p.Gln71ProfsTer11,ENST00000413806,;SMARCA4,frameshift_variant,p.Gln71ProfsTer11,ENST00000450717,NM_001128849.1;SMARCA4,frameshift_variant,p.Gln71ProfsTer11,ENST00000344626,NM_003072.3;SMARCA4,frameshift_variant,p.Gln71ProfsTer11,ENST00000590574,NM_001128847.1;SMARCA4,frameshift_variant,p.Gln71ProfsTer11,ENST00000589677,NM_001128846.1;SMARCA4,frameshift_variant,p.Gln71ProfsTer11,ENST00000541122,NM_001128845.1;SMARCA4,frameshift_variant,p.Gln71ProfsTer11,ENST00000444061,NM_001128848.1;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;	C	ENST00000429416	Transcript	frameshift_variant	490-491/5691	209-210/4944	70/1647	H/HX	cac/caCc		1		1	SMARCA4	HGNC	HGNC:11100	protein_coding	YES	CCDS12253.1	ENSP00000395654	P51532	A7E2E1	UPI000006F973	NM_001128844.1			3/36		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76																	HIGH	1	insertion	2	2		1										PASS		.	.												C	7	5	27	10984360	10984360	-	C	1	0	1	1	0	0	0	0	0	15063	159	6	0		0	SMARCA4	19	10984360	Frame_Shift_Ins	INS	-	C3L-01862_TP	495089	10984360	47633256	151	8090											
SLC1A6	0	.	GRCh38	chr19	14954170	14954170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacccaggttgagctcgtaGttgttaacttgagcaatgaa	11	12	11	7	1	0	4	0	4	0	0	1	4	0	4	1	1	3	6	1	1	4	5	rs779747638		C3L-01862_TP	C3L-01862_NB	G	G																c.1329C>A	p.Asn443Lys	p.N443K	ENST00000221742	7/9	58	42	16	122	122	0	strelka-varscan-mutect	SLC1A6,missense_variant,p.Asn379Lys,ENST00000430939,;SLC1A6,missense_variant,p.Asn365Lys,ENST00000600144,;SLC1A6,missense_variant,p.Asn443Lys,ENST00000221742,NM_005071.2;	T	ENST00000221742	Transcript	missense_variant	1337/1719	1329/1695	443/564	N/K	aaC/aaA	rs779747638	1		-1	SLC1A6	HGNC	HGNC:10944	protein_coding	YES	CCDS12321.1	ENSP00000221742	P48664		UPI0000129B1A	NM_005071.2	deleterious(0.01)		7/9		hmmpanther:PTHR11958:SF67,hmmpanther:PTHR11958,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221																	MODERATE	1	SNV	1			1										PASS		rs779747638	.												T	3	4	27	14954170	14954170	G	T	1	0	0	0	0	1	0	0	0	14702	1020	36	2		2	SLC1A6	19	14954170	Missense_Mutation	SNP	G	C3L-01862_TP	3969810	14954170	43663446	152	8091											
CCDC105	0	.	GRCh38	chr19	15010937	15010937	+	Missense_Mutation	SNP	C	C	A																															ccgcgcacattctgaccgatCgctgcgggcaggaggcggtg																								novel		C3L-01862_TP	C3L-01862_NB	C	C																c.112C>A	p.Arg38Ser	p.R38S	ENST00000292574	1/7	216	177	39	227	227	0	strelka-mutect	CCDC105,missense_variant,p.Arg38Ser,ENST00000292574,NM_173482.2;SLC1A6,intron_variant,,ENST00000595863,;SLC1A6,upstream_gene_variant,,ENST00000430939,;SLC1A6,upstream_gene_variant,,ENST00000599636,;	A	ENST00000292574	Transcript	missense_variant	194/1732	112/1500	38/499	R/S	Cgc/Agc		1		1	CCDC105	HGNC	HGNC:26866	protein_coding	YES	CCDS12322.1	ENSP00000292574	Q8IYK2		UPI0000073091	NM_173482.2	deleterious(0.01)		1/7		hmmpanther:PTHR35081																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	15010937	15010937	C	A	1	0	0	0	0	1	0	0	0	2437	884	31	1		1	CCDC105	19	15010937	Missense_Mutation	SNP	C	C3L-01862_TP	56767	15010937	43606679	153	8092	184	3									
CCDC105	0	.	GRCh38	chr19	15010938	15010938	+	Missense_Mutation	SNP	G	G	A																															cgcgcacattctgaccgatcGctgcgggcaggaggcggtga																								novel		C3L-01862_TP	C3L-01862_NB	G	G																c.113G>A	p.Arg38His	p.R38H	ENST00000292574	1/7	216	177	39	228	228	0	strelka-mutect	CCDC105,missense_variant,p.Arg38His,ENST00000292574,NM_173482.2;SLC1A6,intron_variant,,ENST00000595863,;SLC1A6,upstream_gene_variant,,ENST00000430939,;SLC1A6,upstream_gene_variant,,ENST00000599636,;	A	ENST00000292574	Transcript	missense_variant	195/1732	113/1500	38/499	R/H	cGc/cAc		1		1	CCDC105	HGNC	HGNC:26866	protein_coding	YES	CCDS12322.1	ENSP00000292574	Q8IYK2		UPI0000073091	NM_173482.2	deleterious(0)		1/7		hmmpanther:PTHR35081																	MODERATE	1	SNV	1			1										PASS		rs1190643407	.												A	3	1	27	15010938	15010938	G	A	1	0	0	0	0	1	0	0	0	2437	1087	38	1		1	CCDC105	19	15010938	Missense_Mutation	SNP	G	C3L-01862_TP	1	15010938	43606678	154	8093	184	3									
CCDC105	0	.	GRCh38	chr19	15010940	15010940	+	Frame_Shift_Del	DEL	T	T	-																															cgcacattctgaccgatcgcTgcgggcaggaggcggtgacc																								novel		C3L-01862_TP	C3L-01862_NB	T	T																c.115delT	p.Cys39AlafsTer6	p.C39Afs*6	ENST00000292574	1/7	205	166	39	231	231	0	sindel-varindel	CCDC105,frameshift_variant,p.Cys39AlafsTer6,ENST00000292574,NM_173482.2;SLC1A6,intron_variant,,ENST00000595863,;SLC1A6,upstream_gene_variant,,ENST00000430939,;SLC1A6,upstream_gene_variant,,ENST00000599636,;	-	ENST00000292574	Transcript	frameshift_variant	197/1732	115/1500	39/499	C/X	Tgc/gc		1		1	CCDC105	HGNC	HGNC:26866	protein_coding	YES	CCDS12322.1	ENSP00000292574	Q8IYK2		UPI0000073091	NM_173482.2			1/7		hmmpanther:PTHR35081																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	27	15010940	15010940	T	-	1	0	1	0	1	0	0	0	0	2437	1580	55	0		0	CCDC105	19	15010940	Frame_Shift_Del	DEL	T	C3L-01862_TP	2	15010940	43606676	155	8094	184	3									
OR10H3	0	.	GRCh38	chr19	15741396	15741396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccagatacagtatccatgCctggtcagaactacagaacc	14	7	7	13	0	1	3	1	0	0	3	2	3	2	3	4	1	5	1	4	1	5	3	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.4C>T	p.Pro2Ser	p.P2S	ENST00000305892	1/1	44	33	11	109	109	0	strelka-varscan-mutect	OR10H3,missense_variant,p.Pro2Ser,ENST00000305892,NM_013938.1;	T	ENST00000305892	Transcript	missense_variant	4/951	4/951	2/316	P/S	Cct/Tct		1		1	OR10H3	HGNC	HGNC:8174	protein_coding	YES	CCDS12334.1	ENSP00000307130	O60404	A0A126GW93	UPI0000041DB5	NM_013938.1	tolerated(0.61)		1/1		hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF78,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1356616155	.												T	3	4	27	15741396	15741396	C	T	1	0	0	0	0	1	0	0	0	10984	753	26	3		3	OR10H3	19	15741396	Missense_Mutation	SNP	C	C3L-01862_TP	730456	15741396	42876220	156	8095											
ZNF568	0	.	GRCh38	chr19	36950493	36950493	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagctgagaaaccctatgAatgtaaggaatgtggaaaag	17	8	11	5	0	0	2	0	2	0	1	0	5	0	4	1	2	3	2	1	2	8	3	novel		C3L-01862_TP	C3L-01862_NB	A	A																c.1340A>T	p.Glu447Val	p.E447V	ENST00000619231	5/5	175	143	32	235	235	0	strelka-varscan-mutect	ZNF568,missense_variant,p.Glu447Val,ENST00000619231,;ZNF568,missense_variant,p.Glu383Val,ENST00000415168,NM_001204837.1,NM_001204836.1;ZNF568,missense_variant,p.Glu447Val,ENST00000333987,NM_001204835.1,NM_198539.3;ZNF568,missense_variant,p.Glu383Val,ENST00000587857,;ZNF568,3_prime_UTR_variant,,ENST00000616085,;ZNF568,intron_variant,,ENST00000617745,NM_001204838.1;ZNF568,intron_variant,,ENST00000455427,NM_001204839.1;ZNF568,intron_variant,,ENST00000444991,;ZNF568,intron_variant,,ENST00000427117,;	T	ENST00000619231	Transcript	missense_variant	1549/3797	1340/1935	447/644	E/V	gAa/gTa		1		1	ZNF568	HGNC	HGNC:25392	protein_coding	YES	CCDS42558.1	ENSP00000481819	Q3ZCX4		UPI000059D700		deleterious(0.03)		5/5		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF372,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	27	36950493	36950493	A	T	1	0	0	0	0	1	0	0	0	18573	246	9	4		4	ZNF568	19	36950493	Missense_Mutation	SNP	A	C3L-01862_TP	21209097	36950493	21667123	157	8096											
IL4I1	0	.	GRCh38	chr19	49894463	49894463	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggccctggcagagcttgtgGaggatcctgatcaggggagt	8	8	17	8	0	1	2	1	1	0	1	2	5	2	5	2	6	1	2	2	6	0	1	rs754928014		C3L-01862_TP	C3L-01862_NB	G	G																c.438C>A	p.=	p.L146L	ENST00000595948	7/10	195	147	48	211	211	0	strelka-varscan-mutect	IL4I1,synonymous_variant,p.=,ENST00000595948,NM_001258018.1;IL4I1,synonymous_variant,p.=,ENST00000341114,NM_172374.2,NM_001258017.1;IL4I1,synonymous_variant,p.=,ENST00000391826,NM_152899.1;IL4I1,synonymous_variant,p.=,ENST00000593956,;IL4I1,downstream_gene_variant,,ENST00000596022,;IL4I1,downstream_gene_variant,,ENST00000596011,;IL4I1,downstream_gene_variant,,ENST00000597295,;IL4I1,3_prime_UTR_variant,,ENST00000601717,;	T	ENST00000595948	Transcript	synonymous_variant	1059/2407	438/1770	146/589	L	ctC/ctA	rs754928014,COSM5583630	1		-1	IL4I1	HGNC	HGNC:19094	protein_coding	YES	CCDS12786.1	ENSP00000472474	Q96RQ9		UPI00001678CE	NM_001258018.1			7/10		hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF21,Pfam_domain:PF01593,Gene3D:3.90.660.10,Superfamily_domains:SSF51905											0,1						LOW	1	SNV	1		0,1	1										PASS		rs754928014	.												T	2	4	27	49894463	49894463	G	T	1	0	0	0	0	0	0	0	1	7601	1161	41	2		2	IL4I1	19	49894463	Silent	SNP	G	C3L-01862_TP	12943970	49894463	8723153	158	8097											
AC018755.18	0	.	GRCh38	chr19	51629490	51629490	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgaggagcgggtggtctcggGgtccagggggctgagggcat	5	6	22	8	3	1	1	0	1	1	0	3	3	2	2	1	8	1	2	1	8	0	0	rs772339797		C3L-01862_TP	C3L-01862_NB	G	G																c.568C>G	p.Pro190Ala	p.P190A	ENST00000534261	4/10	122	107	15	156	156	0	varscan-mutect	SIGLEC5,missense_variant,p.Pro190Ala,ENST00000534261,NM_003830.3;AC018755.18,missense_variant,p.Pro190Ala,ENST00000429354,;AC018755.18,missense_variant,p.Pro190Ala,ENST00000599649,;	C	ENST00000534261	Transcript	missense_variant	968/2360	568/1656	190/551	P/A	Ccc/Gcc	rs772339797	1		-1	SIGLEC5	HGNC	HGNC:10874	protein_coding	YES	CCDS33088.1	ENSP00000473238	O15389		UPI000011B40C	NM_003830.3	deleterious(0.03)		4/10		PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF67,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		rs772339797	.												C	3	2	27	51629490	51629490	G	C	1	0	0	0	0	1	0	0	0	125	1232	43	4		4	AC018755.18	19	51629490	Missense_Mutation	SNP	G	C3L-01862_TP	1735027	51629490	6988126	159	8098											
ZNF805	0	.	GRCh38	chr19	57248610	57248610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttctccataaacagggtgtCctgttcccagacctgagctg	8	12	9	12	0	1	2	0	1	1	1	4	2	3	2	4	1	2	2	4	1	2	3	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.163C>T	p.Pro55Ser	p.P55S	ENST00000414468	3/4	262	226	36	296	296	0	strelka-varscan-mutect	ZNF805,missense_variant,p.Pro55Ser,ENST00000414468,NM_001023563.3;ZNF805,5_prime_UTR_variant,,ENST00000354309,NM_001145078.1;	T	ENST00000414468	Transcript	missense_variant	163/1884	163/1884	55/627	P/S	Cct/Tct		1		1	ZNF805	HGNC	HGNC:23272	protein_coding	YES	CCDS46207.1	ENSP00000412999	Q5CZA5		UPI000041AAAF	NM_001023563.3	tolerated(0.08)		3/4		Superfamily_domains:0044637,PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF192,SMART_domains:SM00349																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	27	57248610	57248610	C	T	1	0	0	0	0	1	0	0	0	18757	869	30	3		3	ZNF805	19	57248610	Missense_Mutation	SNP	C	C3L-01862_TP	5619120	57248610	1369006	160	8099											
ZNF416	0	.	GRCh38	chr19	57572186	57572186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacgaggcctctccacaGtgtgagattttcggtggaga	8	11	13	9	2	2	2	1	1	1	2	4	5	2	2	2	3	0	0	2	3	0	2	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.1718C>A	p.Thr573Asn	p.T573N	ENST00000196489	4/4	106	87	19	134	134	0	strelka-varscan-mutect	ZNF416,missense_variant,p.Thr573Asn,ENST00000196489,NM_017879.1;	T	ENST00000196489	Transcript	missense_variant	1941/2561	1718/1785	573/594	T/N	aCt/aAt		1		-1	ZNF416	HGNC	HGNC:20645	protein_coding	YES	CCDS12954.1	ENSP00000196489	Q9BWM5		UPI000007314D	NM_017879.1	deleterious(0.01)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF160,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1491111421	.												T	3	4	27	57572186	57572186	G	T	1	0	0	0	0	1	0	0	0	18465	1029	36	2		2	ZNF416	19	57572186	Missense_Mutation	SNP	G	C3L-01862_TP	323576	57572186	1045430	161	8100											
TTLL9	0	.	GRCh38	chr20	31937486	31937486	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcctggaagacaccctGcatgttgtggacatggaagc	9	9	12	11	0	0	1	0	0	0	1	1	4	1	4	3	3	3	2	3	3	2	1	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.1095G>A	p.=	p.L365L	ENST00000535842	12/14	203	179	24	184	184	0	strelka-varscan-mutect	TTLL9,synonymous_variant,p.=,ENST00000535842,;TTLL9,synonymous_variant,p.=,ENST00000620043,;TTLL9,synonymous_variant,p.=,ENST00000375938,NM_001008409.2;TTLL9,synonymous_variant,p.=,ENST00000612972,;TTLL9,non_coding_transcript_exon_variant,,ENST00000375922,;TTLL9,3_prime_UTR_variant,,ENST00000375921,;TTLL9,3_prime_UTR_variant,,ENST00000619753,;TTLL9,3_prime_UTR_variant,,ENST00000616761,;TTLL9,3_prime_UTR_variant,,ENST00000611624,;TTLL9,3_prime_UTR_variant,,ENST00000310998,;TTLL9,3_prime_UTR_variant,,ENST00000375934,;	A	ENST00000535842	Transcript	synonymous_variant	1095/3261	1095/1320	365/439	L	ctG/ctA		1		1	TTLL9	HGNC	HGNC:16118	protein_coding	YES	CCDS42863.1	ENSP00000442515	Q3SXZ7		UPI00001998D0				12/14		PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF39,Pfam_domain:PF03133																	LOW	1	SNV	5			1										PASS		rs1287052164	.												A	2	1	27	31937486	31937486	G	A	1	0	0	0	0	0	0	0	1	17244	1306	46	3		3	TTLL9	20	31937486	Silent	SNP	G	C3L-01862_TP		31937486	32506681	162	8101											
KCNB1	0	.	GRCh38	chr20	49374097	49374097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctctttgtccatttcCatttgttaggagacaagtgg	7	16	10	8	0	1	1	0	0	1	1	4	2	4	1	3	2	0	1	3	2	2	4	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.1463G>T	p.Trp488Leu	p.W488L	ENST00000371741	2/2	183	149	34	235	234	1	strelka-varscan-mutect	KCNB1,missense_variant,p.Trp488Leu,ENST00000371741,NM_004975.2;KCNB1,missense_variant,p.Trp488Leu,ENST00000635465,;KCNB1,intron_variant,,ENST00000635878,;RP4-791K14.2,intron_variant,,ENST00000637341,;KCNB1,upstream_gene_variant,,ENST00000636838,;RP4-791K14.2,downstream_gene_variant,,ENST00000637091,;RP4-791K14.2,downstream_gene_variant,,ENST00000637575,;KCNB1,downstream_gene_variant,,ENST00000635210,;KCNB1,upstream_gene_variant,,ENST00000637131,;	A	ENST00000371741	Transcript	missense_variant	1659/11879	1463/2577	488/858	W/L	tGg/tTg		1		-1	KCNB1	HGNC	HGNC:6231	protein_coding	YES	CCDS13418.1	ENSP00000360806	Q14721		UPI000012DC80	NM_004975.2	tolerated_low_confidence(0.05)		2/2		hmmpanther:PTHR11537:SF134,hmmpanther:PTHR11537,Pfam_domain:PF03521																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	49374097	49374097	C	A	1	0	0	0	0	1	0	0	0	7928	595	21	2		2	KCNB1	20	49374097	Missense_Mutation	SNP	C	C3L-01862_TP	17436611	49374097	15070070	163	8102											
PRELID3B	0	.	GRCh38	chr20	59038484	59038484	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacttcacaatggaaggCagtccccactctgtgctgag	11	8	10	12	0	2	2	1	1	1	1	3	3	3	3	2	2	1	2	2	2	2	1			C3L-01862_TP	C3L-01862_NB	C	C																c.183G>A	p.=	p.L61L	ENST00000355937	2/6	102	95	7	123	122	1	varscan-mutect	PRELID3B,synonymous_variant,p.=,ENST00000355937,NM_016045.2;PRELID3B,synonymous_variant,p.=,ENST00000371033,NM_001256403.1;PRELID3B,synonymous_variant,p.=,ENST00000463057,;PRELID3B,non_coding_transcript_exon_variant,,ENST00000466051,;	T	ENST00000355937	Transcript	synonymous_variant	362/2626	183/585	61/194	L	ctG/ctA	COSM1533896	1		-1	PRELID3B	HGNC	HGNC:15892	protein_coding	YES	CCDS42893.1	ENSP00000348206	Q9Y3B1		UPI00001285DF	NM_016045.2			2/6		PROSITE_profiles:PS50904,hmmpanther:PTHR11158:SF22,hmmpanther:PTHR11158,Pfam_domain:PF04707											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	27	59038484	59038484	C	T	1	0	0	0	0	0	0	0	1	12606	697	25	3		3	PRELID3B	20	59038484	Silent	SNP	C	C3L-01862_TP	9664387	59038484	5405683	164	8103											
KRTAP25-1	0	.	GRCh38	chr21	30289365	30289365	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatagctcaagggatagcaGgtcctggacacaaaattcag	16	7	10	8	0	2	0	2	0	0	0	3	2	3	2	1	3	2	2	1	3	6	3	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.126C>A	p.=	p.T42T	ENST00000416044	1/1	261	226	35	275	272	3	strelka-varscan-mutect	KRTAP25-1,synonymous_variant,p.=,ENST00000416044,NM_001128598.1;	T	ENST00000416044	Transcript	synonymous_variant	150/370	126/309	42/102	T	acC/acA		1		-1	KRTAP25-1	HGNC	HGNC:34003	protein_coding	YES	CCDS46640.1	ENSP00000398619	Q3LHN0		UPI00005C50FC	NM_001128598.1			1/1		hmmpanther:PTHR19051:SF19,hmmpanther:PTHR19051,Pfam_domain:PF05287																	LOW	1	SNV				1										PASS		.	.												T	2	4	27	30289365	30289365	G	T	1	0	0	0	0	0	0	0	1	8434	987	35	2		2	KRTAP25-1	21	30289365	Silent	SNP	G	C3L-01862_TP		30289365	16420618	165	8104											
DHRSX	0	.	GRCh38	chrX	2243039	2243039	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttaccttgaaaagcaaccagCcgagaagcttcttcgccaga	13	8	8	12	2	1	3	0	1	1	2	2	4	1	3	4	0	5	2	4	0	5	4	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.788G>T	p.Gly263Val	p.G263V	ENST00000334651	6/7	86	70	16	108	108	0	varscan-mutect	DHRSX,missense_variant,p.Gly263Val,ENST00000334651,NM_145177.2;DHRSX,downstream_gene_variant,,ENST00000412516,;	A	ENST00000334651	Transcript	missense_variant	841/2571	788/993	263/330	G/V	gGc/gTc		1		-1	DHRSX	HGNC	HGNC:18399	protein_coding	YES	CCDS35195.1	ENSP00000334113	Q8N5I4		UPI0000D61D1C	NM_145177.2	deleterious(0.01)		6/7		hmmpanther:PTHR24319,hmmpanther:PTHR24319:SF33,Gene3D:3.40.50.720,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	27	2243039	2243039	C	A	1	0	0	0	0	1	0	0	0	4303	739	26	2		2	DHRSX	23	2243039	Missense_Mutation	SNP	C	C3L-01862_TP		2243039	153797856	166	8105											
MAGEB17	0	.	GRCh38	chrX	16170981	16170981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggggctttcccctgagcgGgctcctgatggttctcctga	3	11	14	13	2	1	3	0	3	1	0	4	3	3	3	4	4	1	3	4	4	0	2	novel		C3L-01862_TP	C3L-01862_NB	G	G																c.599G>T	p.Gly200Val	p.G200V	ENST00000400004	2/2	40	28	12	70	69	1	strelka-varscan-mutect	MAGEB17,missense_variant,p.Gly200Val,ENST00000400004,NM_001277307.1;MAGEB17,missense_variant,p.Gly200Val,ENST00000400003,;RP11-431J24.2,upstream_gene_variant,,ENST00000435789,;	T	ENST00000400004	Transcript	missense_variant	951/1434	599/1011	200/336	G/V	gGg/gTg		1		1	MAGEB17	HGNC	HGNC:17418	protein_coding	YES	CCDS59524.1	ENSP00000382884	A8MXT2		UPI00001602F1	NM_001277307.1	deleterious(0)		2/2		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF67,Pfam_domain:PF01454,SMART_domains:SM01373																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	27	16170981	16170981	G	T	1	0	0	0	0	1	0	0	0	9090	1232	43	2		2	MAGEB17	23	16170981	Missense_Mutation	SNP	G	C3L-01862_TP	13927942	16170981	139869914	167	8106											
MAP3K15	0	.	GRCh38	chrX	19371441	19371441	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgatattgtggtcgccatCacccggtgctctggggagcg	5	12	14	10	3	2	1	1	1	1	0	3	2	2	2	2	4	2	1	2	4	1	3	novel		C3L-01862_TP	C3L-01862_NB	C	C																c.3198G>A	p.=	p.V1066V	ENST00000338883	23/29	73	65	8	63	63	0	strelka-varscan-mutect	MAP3K15,synonymous_variant,p.=,ENST00000338883,NM_001001671.3;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;MAP3K15,3_prime_UTR_variant,,ENST00000359173,;MAP3K15,non_coding_transcript_exon_variant,,ENST00000470101,;	T	ENST00000338883	Transcript	synonymous_variant	3198/4012	3198/3942	1066/1313	V	gtG/gtA		1		-1	MAP3K15	HGNC	HGNC:31689	protein_coding	YES	CCDS35212.2	ENSP00000345629	Q6ZN16		UPI0000E444D0	NM_001001671.3			23/29		hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	27	19371441	19371441	C	T	1	0	0	0	0	0	0	0	1	9171	813	29	3		3	MAP3K15	23	19371441	Silent	SNP	C	C3L-01862_TP	3200460	19371441	136669454	168	8107											
GPR50	0	.	GRCh38	chrX	151180216	151180216	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctgctacgtgaggatCtggaccaaagtgctggcggc	7	10	15	9	2	2	1	0	1	2	0	2	3	2	3	1	5	3	3	1	5	2	2			C3L-01862_TP	C3L-01862_NB	C	C																c.633C>A	p.=	p.I211I	ENST00000218316	2/2	70	50	20	75	75	0	strelka-varscan-mutect	GPR50,synonymous_variant,p.=,ENST00000218316,NM_004224.3;AF003625.3,upstream_gene_variant,,ENST00000602313,;GPR50-AS1,upstream_gene_variant,,ENST00000454196,;	A	ENST00000218316	Transcript	synonymous_variant	702/1951	633/1854	211/617	I	atC/atA	COSM1253560,COSM1253561	1		1	GPR50	HGNC	HGNC:4506	protein_coding	YES	CCDS44012.1	ENSP00000218316	Q13585		UPI000013C755	NM_004224.3			2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF51,hmmpanther:PTHR24242,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	27	151180216	151180216	C	A	1	0	0	0	0	0	0	0	1	6582	903	32	2		2	GPR50	23	151180216	Silent	SNP	C	C3L-01862_TP	131808775	151180216	4860679	169	8108											
MIB2	0	.	GRCh38	chr1	1628687	1628687	+	Frame_Shift_Del	DEL	G	G	-																															ccctggtggctgatggggccGggggggacccagggcccttg																								rs762387286,rs773234714		C3L-01889_TP	C3L-01889_NB	G	G																c.2518delG	p.Asp840ThrfsTer22	p.D840Tfs*22	ENST00000505820	16/20	66	61	5	61	61	0	varindel-pindel	MIB2,frameshift_variant,p.Asp836ThrfsTer22,ENST00000520777,NM_001170686.1;MIB2,frameshift_variant,p.Asp739ThrfsTer22,ENST00000504599,;MIB2,frameshift_variant,p.Asp840ThrfsTer22,ENST00000505820,NM_080875.2;MIB2,frameshift_variant,p.Asp826ThrfsTer22,ENST00000355826,NM_001170687.1;MIB2,frameshift_variant,p.Asp775ThrfsTer22,ENST00000518681,NM_001170688.1;MIB2,frameshift_variant,p.Asp689ThrfsTer22,ENST00000378708,;MIB2,frameshift_variant,p.Asp660ThrfsTer22,ENST00000378712,NM_001170689.1;MIB2,frameshift_variant,p.Asp599ThrfsTer22,ENST00000514234,;MIB2,frameshift_variant,p.Asp69ThrfsTer55,ENST00000483015,;MMP23B,upstream_gene_variant,,ENST00000356026,NM_006983.1;MMP23B,upstream_gene_variant,,ENST00000378675,;MMP23B,upstream_gene_variant,,ENST00000479814,;MIB2,downstream_gene_variant,,ENST00000510793,;MMP23B,upstream_gene_variant,,ENST00000503792,;MMP23B,upstream_gene_variant,,ENST00000435358,;MIB2,downstream_gene_variant,,ENST00000503789,;MMP23B,upstream_gene_variant,,ENST00000472264,;MIB2,downstream_gene_variant,,ENST00000512004,;MIB2,frameshift_variant,p.Asp739ThrfsTer22,ENST00000487053,;MIB2,3_prime_UTR_variant,,ENST00000489635,;MIB2,3_prime_UTR_variant,,ENST00000506488,;MIB2,non_coding_transcript_exon_variant,,ENST00000479659,;MIB2,non_coding_transcript_exon_variant,,ENST00000511502,;MIB2,non_coding_transcript_exon_variant,,ENST00000507229,;MIB2,non_coding_transcript_exon_variant,,ENST00000473511,;MIB2,non_coding_transcript_exon_variant,,ENST00000464570,;MMP23B,upstream_gene_variant,,ENST00000512731,;MIB2,downstream_gene_variant,,ENST00000505370,;MIB2,downstream_gene_variant,,ENST00000502470,;MIB2,downstream_gene_variant,,ENST00000467597,;MMP23B,upstream_gene_variant,,ENST00000489782,;MIB2,downstream_gene_variant,,ENST00000514363,;MIB2,upstream_gene_variant,,ENST00000511910,;MIB2,downstream_gene_variant,,ENST00000508148,;MIB2,downstream_gene_variant,,ENST00000486072,;MIB2,downstream_gene_variant,,ENST00000508455,;MIB2,upstream_gene_variant,,ENST00000470373,;	-	ENST00000505820	Transcript	frameshift_variant	2529/3305	2512/3213	838/1070	G/X	Ggg/gg	rs762387286,rs773234714,COSM1241432,COSM5092475	1		1	MIB2	HGNC	HGNC:30577	protein_coding	YES	CCDS41224.2	ENSP00000426103	Q96AX9		UPI0001C0B37A	NM_080875.2			16/20		PROSITE_profiles:PS50297,hmmpanther:PTHR24202:SF4,hmmpanther:PTHR24202,SMART_domains:SM00248											0,0,1,1						HIGH	1	deletion	1	6	0,0,1,1	1										PASS		.	.												-	7	5	28	1628687	1628687	G	-	1	0	1	0	1	0	0	0	0	9524	1116	39	0		0	MIB2	1	1628687	Frame_Shift_Del	DEL	G	C3L-01889_TP		1628687	247327735	1	8109											
PRAMEF1	0	.	GRCh38	chr1	12795678	12795678	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tactcccaactcagtgccatCctgcctggcctgagccgctg	6	9	9	17	1	1	1	1	1	0	0	3	1	3	1	6	1	5	1	6	1	2	1	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.1107C>A	p.=	p.I369I	ENST00000332296	4/4	268	201	67	320	319	1	strelka-varscan-mutect	PRAMEF1,synonymous_variant,p.=,ENST00000332296,NM_001291380.1,NM_023013.4;PRAMEF1,non_coding_transcript_exon_variant,,ENST00000400814,;	A	ENST00000332296	Transcript	synonymous_variant	1210/2160	1107/1425	369/474	I	atC/atA		1		1	PRAMEF1	HGNC	HGNC:28840	protein_coding	YES	CCDS148.1	ENSP00000332134	O95521		UPI0004620BB8	NM_001291380.1,NM_023013.4			4/4		Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF2,Superfamily_domains:SSF52047																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	28	12795678	12795678	C	A	1	0	0	0	0	0	0	0	1	12554	845	30	2		2	PRAMEF1	1	12795678	Silent	SNP	C	C3L-01889_TP	11166991	12795678	236160744	2	8110											
ADGRB2	0	.	GRCh38	chr1	31756317	31756317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggctagggcagcgggcgCcagcaggcgcggggcctcgg	6	2	21	12	5	0	0	0	0	0	0	1	1	0	0	2	7	2	3	2	7	2	1	rs200554940		C3L-01889_TP	C3L-01889_NB	C	C																c.520G>T	p.Ala174Ser	p.A174S	ENST00000373655	4/33	355	259	96	299	298	1	strelka-varscan-mutect	ADGRB2,missense_variant,p.Ala174Ser,ENST00000373658,;ADGRB2,missense_variant,p.Ala174Ser,ENST00000373655,NM_001294335.1;ADGRB2,missense_variant,p.Ala162Ser,ENST00000398542,;ADGRB2,missense_variant,p.Ala174Ser,ENST00000527361,NM_001294336.1;ADGRB2,missense_variant,p.Ala177Ser,ENST00000398556,;ADGRB2,missense_variant,p.Ala162Ser,ENST00000398547,;ADGRB2,missense_variant,p.Ala162Ser,ENST00000398538,;ADGRB2,missense_variant,p.Ala167Ser,ENST00000420125,;ADGRB2,missense_variant,p.Ala208Ser,ENST00000533175,;ADGRB2,downstream_gene_variant,,ENST00000436464,;MIR4254,downstream_gene_variant,,ENST00000581063,;ADGRB2,upstream_gene_variant,,ENST00000530134,;	A	ENST00000373655	Transcript	missense_variant	862/5400	520/4755	174/1584	A/S	Gcg/Tcg	rs200554940	1		-1	ADGRB2	HGNC	HGNC:944	protein_coding	YES	CCDS72747.1	ENSP00000362759	O60241		UPI000046FEC7	NM_001294335.1	tolerated(0.57)		4/33		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs200554940	.												A	3	1	28	31756317	31756317	C	A	1	0	0	0	0	1	0	0	0	356	739	26	2		2	ADGRB2	1	31756317	Missense_Mutation	SNP	C	C3L-01889_TP	18960639	31756317	217200105	3	8111											
CSMD2	0	.	GRCh38	chr1	33523413	33523413	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgaaaatcttctttcttgTaagttcctgggaaataaagt	13	15	8	5	0	3	1	0	1	3	0	4	3	4	2	1	1	0	2	1	1	6	6	rs555430648		C3L-01889_TP	C3L-01889_NB	T	T																c.10403A>T	p.Tyr3468Phe	p.Y3468F	ENST00000373381	67/71	131	94	37	157	157	0	strelka-varscan-mutect	CSMD2,missense_variant,p.Tyr3468Phe,ENST00000373381,NM_001281956.1;CSMD2,missense_variant,p.Tyr3428Phe,ENST00000619121,;CSMD2,missense_variant,p.Tyr3324Phe,ENST00000373388,NM_052896.4;CSMD2,missense_variant,p.Tyr3324Phe,ENST00000241312,;	A	ENST00000373381	Transcript	missense_variant	10580/13698	10403/10896	3468/3631	Y/F	tAc/tTc	rs555430648	1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1	deleterious(0.03)		67/71		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF371																	MODERATE	1	SNV	1			1										PASS		rs555430648	.												A	3	1	28	33523413	33523413	T	A	1	0	0	0	0	1	0	0	0	3746	1638	57	4		4	CSMD2	1	33523413	Missense_Mutation	SNP	T	C3L-01889_TP	1767096	33523413	215433009	4	8112											
GRIK3	0	.	GRCh38	chr1	37034058	37034058	+	Frame_Shift_Del	DEL	G	G	-																															aaggcgcacacgaggagcccGgcccagtattcccaaaccag																								novel		C3L-01889_TP	C3L-01889_NB	G	G																c.51delC	p.Leu19SerfsTer35	p.L19Sfs*35	ENST00000373091	1/16	145	118	27	157	157	0	sindel-varindel-pindel	GRIK3,frameshift_variant,p.Leu19SerfsTer35,ENST00000373091,NM_000831.3;GRIK3,frameshift_variant,p.Leu19SerfsTer35,ENST00000373093,;	-	ENST00000373091	Transcript	frameshift_variant	68/9101	51/2760	17/919	A/X	gcC/gc		1		-1	GRIK3	HGNC	HGNC:4581	protein_coding	YES	CCDS416.1	ENSP00000362183	Q13003		UPI000013E311	NM_000831.3			1/16		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF174,Cleavage_site_(Signalp):SignalP-noTM																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	28	37034058	37034058	G	-	1	0	1	0	1	0	0	0	0	6657	1103	39	0		0	GRIK3	1	37034058	Frame_Shift_Del	DEL	G	C3L-01889_TP	3510645	37034058	211922364	5	8113											
PTCH2	0	.	GRCh38	chr1	44830946	44830946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcccacctgtgccttgtCtagcagctcccggaagccct	5	9	10	17	1	1	0	0	0	1	0	2	1	2	1	5	2	4	2	5	2	2	2	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.715G>A	p.Asp239Asn	p.D239N	ENST00000372192	6/22	44	31	13	56	56	0	strelka-varscan-mutect	PTCH2,missense_variant,p.Asp239Asn,ENST00000447098,NM_001166292.1;PTCH2,missense_variant,p.Asp239Asn,ENST00000372192,NM_003738.4;	T	ENST00000372192	Transcript	missense_variant	846/4225	715/3612	239/1203	D/N	Gac/Aac		1		-1	PTCH2	HGNC	HGNC:9586	protein_coding	YES	CCDS516.1	ENSP00000361266	Q9Y6C5		UPI00001328B8	NM_003738.4	tolerated(0.47)		6/22		hmmpanther:PTHR10796:SF62,hmmpanther:PTHR10796,TIGRFAM_domain:TIGR00918																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	44830946	44830946	C	T	1	0	0	0	0	1	0	0	0	12884	913	32	3		3	PTCH2	1	44830946	Missense_Mutation	SNP	C	C3L-01889_TP	7796888	44830946	204125476	6	8114											
DMRTA2	0	.	GRCh38	chr1	50418760	50418760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcagcggcggccgagcGgtcacgcatgagatcgctaa	9	4	15	13	7	1	1	1	1	0	1	2	3	1	1	1	3	3	4	1	3	1	1	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.1534C>A	p.Arg512Ser	p.R512S	ENST00000404795	3/3	79	67	12	90	90	0	strelka-varscan-mutect	DMRTA2,missense_variant,p.Arg512Ser,ENST00000404795,NM_032110.2;DMRTA2,missense_variant,p.Arg512Ser,ENST00000418121,;	T	ENST00000404795	Transcript	missense_variant	1927/3137	1534/1629	512/542	R/S	Cgc/Agc		1		-1	DMRTA2	HGNC	HGNC:13908	protein_coding	YES	CCDS44141.1	ENSP00000383909	Q96SC8		UPI00003D7962	NM_032110.2	tolerated(0.57)		3/3		hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF76																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	28	50418760	50418760	G	T	1	0	0	0	0	1	0	0	0	4396	1116	39	1		1	DMRTA2	1	50418760	Missense_Mutation	SNP	G	C3L-01889_TP	5587814	50418760	198537662	7	8115											
PARS2	0	.	GRCh38	chr1	54759106	54759106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatacccagagagctggCggctgcaggtggccagggcg	9	4	17	11	2	0	1	0	0	0	1	0	3	0	1	2	5	4	3	2	5	2	1	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.56G>T	p.Arg19Leu	p.R19L	ENST00000371279	2/2	65	53	12	53	53	0	strelka-varscan-mutect	PARS2,missense_variant,p.Arg19Leu,ENST00000371279,NM_152268.3;	A	ENST00000371279	Transcript	missense_variant	139/2347	56/1428	19/475	R/L	cGc/cTc		1		-1	PARS2	HGNC	HGNC:30563	protein_coding	YES	CCDS597.1	ENSP00000360327	Q7L3T8		UPI00000492D2	NM_152268.3	tolerated_low_confidence(0.42)		2/2																			MODERATE	1	SNV	1			1										PASS		rs1369337533	.												A	3	1	28	54759106	54759106	C	A	1	0	0	0	0	1	0	0	0	11548	768	27	1		1	PARS2	1	54759106	Missense_Mutation	SNP	C	C3L-01889_TP	4340346	54759106	194197316	8	8116											
ST6GALNAC5	0	.	GRCh38	chr1	77044493	77044493	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgggacggcaagggccAggtctacaacaacctgcatc	10	4	14	13	3	1	0	0	0	1	0	2	1	1	1	2	5	4	2	2	5	4	1	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.551A>T	p.Gln184Leu	p.Q184L	ENST00000477717	3/5	90	69	21	76	76	0	strelka-varscan-mutect	ST6GALNAC5,missense_variant,p.Gln184Leu,ENST00000477717,NM_030965.1;ST6GALNAC5,non_coding_transcript_exon_variant,,ENST00000488940,;ST6GALNAC5,missense_variant,p.Gln184Leu,ENST00000318803,;	T	ENST00000477717	Transcript	missense_variant	786/3751	551/1011	184/336	Q/L	cAg/cTg		1		1	ST6GALNAC5	HGNC	HGNC:19342	protein_coding	YES	CCDS673.1	ENSP00000417583	Q9BVH7		UPI0000001C9F	NM_030965.1			3/5		Pfam_domain:PF00777,hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF33																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	77044493	77044493	A	T	1	0	0	0	0	1	0	0	0	15605	188	7	4		4	ST6GALNAC5	1	77044493	Missense_Mutation	SNP	A	C3L-01889_TP	22285387	77044493	171911929	9	8117											
COL11A1	0	.	GRCh38	chr1	102962742	102962742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacgttcccctattggacCagtctcaccggttggtccct	5	11	8	17	2	1	0	1	0	1	0	4	1	3	1	6	3	0	2	6	3	1	4	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.2935G>T	p.Gly979Cys	p.G979C	ENST00000370096	39/67	255	186	69	222	222	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Gly991Cys,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Gly979Cys,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Gly940Cys,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Gly863Cys,ENST00000512756,NM_080630.3;COL11A1,3_prime_UTR_variant,,ENST00000635193,;COL11A1,upstream_gene_variant,,ENST00000465209,;	A	ENST00000370096	Transcript	missense_variant	3248/7286	2935/5421	979/1806	G/C	Ggt/Tgt		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0)		39/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	102962742	102962742	C	A	1	0	0	0	0	1	0	0	0	3455	594	21	2		2	COL11A1	1	102962742	Missense_Mutation	SNP	C	C3L-01889_TP	25918249	102962742	145993680	10	8118											
TCHH	0	.	GRCh38	chr1	152112615	152112615	+	Frame_Shift_Del	DEL	G	G	-																															cttcgtctggaaactcctcaGtttcgtgacctttgcaactc																								rs756454573		C3L-01889_TP	C3L-01889_NB	G	G																c.602delC	p.Thr201MetfsTer18	p.T201Mfs*18	ENST00000614923	3/3	271	209	62	227	227	0	sindel-varindel	TCHH,frameshift_variant,p.Thr201MetfsTer18,ENST00000614923,NM_007113.3;TCHH,frameshift_variant,p.Thr201MetfsTer18,ENST00000368804,;	-	ENST00000614923	Transcript	frameshift_variant	697/6995	602/5832	201/1943	T/X	aCt/at	rs756454573	1		-1	TCHH	HGNC	HGNC:11791	protein_coding	YES	CCDS41396.1	ENSP00000480484	Q07283		UPI0000458A5E	NM_007113.3			3/3																			HIGH	1	deletion	5			1										PASS		.	.												-	7	5	28	152112615	152112615	G	-	1	0	1	0	1	0	0	0	0	16107	1029	36	0		0	TCHH	1	152112615	Frame_Shift_Del	DEL	G	C3L-01889_TP	49149873	152112615	96843807	11	8119	185	2									
TCHH	0	.	GRCh38	chr1	152112616	152112616	+	Missense_Mutation	SNP	T	T	A																															ttcgtctggaaactcctcagTttcgtgacctttgcaactct																								novel		C3L-01889_TP	C3L-01889_NB	T	T																c.601A>T	p.Thr201Ser	p.T201S	ENST00000614923	3/3	288	223	65	226	226	0	strelka-mutect	TCHH,missense_variant,p.Thr201Ser,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Thr201Ser,ENST00000368804,;	A	ENST00000614923	Transcript	missense_variant	696/6995	601/5832	201/1943	T/S	Act/Tct		1		-1	TCHH	HGNC	HGNC:11791	protein_coding	YES	CCDS41396.1	ENSP00000480484	Q07283		UPI0000458A5E	NM_007113.3	tolerated_low_confidence(0.07)		3/3																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	28	152112616	152112616	T	A	1	0	0	0	0	1	0	0	0	16107	1725	60	4		4	TCHH	1	152112616	Missense_Mutation	SNP	T	C3L-01889_TP	1	152112616	96843806	12	8120	185	2									
NFASC	0	.	GRCh38	chr1	204952034	204952034	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagccgccaaccatcaccAagcagtcagcgaaggatcac	13	3	9	16	3	3	0	3	0	0	0	3	2	3	1	4	1	4	2	4	1	3	0	rs138945016		C3L-01889_TP	C3L-01889_NB	A	A																c.133A>T	p.Lys45Ter	p.K45*	ENST00000339876	5/30	238	140	98	183	183	0	strelka-varscan-mutect	NFASC,stop_gained,p.Lys45Ter,ENST00000339876,NM_001005388.2;NFASC,stop_gained,p.Lys45Ter,ENST00000401399,;NFASC,stop_gained,p.Lys39Ter,ENST00000539706,NM_001160332.1;NFASC,stop_gained,p.Lys39Ter,ENST00000360049,NM_015090.3;NFASC,stop_gained,p.Lys39Ter,ENST00000404076,;NFASC,stop_gained,p.Lys39Ter,ENST00000404907,;NFASC,stop_gained,p.Lys15Ter,ENST00000430393,NM_001160331.1;NFASC,stop_gained,p.Lys15Ter,ENST00000367173,;NFASC,stop_gained,p.Lys39Ter,ENST00000513543,;NFASC,stop_gained,p.Lys45Ter,ENST00000403080,NM_001160333.1,NM_001005389.1;NFASC,stop_gained,p.Lys45Ter,ENST00000505079,;NFASC,non_coding_transcript_exon_variant,,ENST00000404977,;NFASC,stop_gained,p.Lys45Ter,ENST00000504476,;NFASC,non_coding_transcript_exon_variant,,ENST00000514644,;RP11-494K3.2,downstream_gene_variant,,ENST00000452580,;	T	ENST00000339876	Transcript	stop_gained	461/10333	133/3723	45/1240	K/*	Aag/Tag	rs138945016	1		1	NFASC	HGNC	HGNC:29866	protein_coding	YES	CCDS53460.1	ENSP00000344786	O94856		UPI0000237208	NM_001005388.2			5/30		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF715,Pfam_domain:PF13927,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	HIGH	1	SNV	5			1										PASS		rs138945016	.												T	4	4	28	204952034	204952034	A	T	1	0	0	0	0	0	1	0	0	10396	131	5	4		4	NFASC	1	204952034	Nonsense_Mutation	SNP	A	C3L-01889_TP	52839418	204952034	44004388	13	8121											
CNTN2	0	.	GRCh38	chr1	205072021	205072021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagggctggacaccagtgcCcgagtcagcggcctgcatcc	7	5	14	15	2	1	0	1	0	0	0	2	2	2	1	4	3	3	3	4	3	0	0	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.2619C>T	p.=	p.A873A	ENST00000331830	20/23	206	165	41	132	132	0	strelka-varscan-mutect	CNTN2,synonymous_variant,p.=,ENST00000331830,NM_005076.3;CNTN2,downstream_gene_variant,,ENST00000636641,;CNTN2,3_prime_UTR_variant,,ENST00000638050,;CNTN2,non_coding_transcript_exon_variant,,ENST00000481872,;CNTN2,non_coding_transcript_exon_variant,,ENST00000636809,;CNTN2,upstream_gene_variant,,ENST00000525433,;CNTN2,upstream_gene_variant,,ENST00000636312,;	T	ENST00000331830	Transcript	synonymous_variant	2976/8214	2619/3123	873/1040	A	gcC/gcT		1		1	CNTN2	HGNC	HGNC:2172	protein_coding	YES	CCDS1449.1	ENSP00000330633	Q02246	A0A024R9B4	UPI00001266A5	NM_005076.3			20/23		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	28	205072021	205072021	C	T	1	0	0	0	0	0	0	0	1	3422	610	22	3		3	CNTN2	1	205072021	Silent	SNP	C	C3L-01889_TP	119987	205072021	43884401	14	8122											
HSD11B1	0	.	GRCh38	chr1	209705916	209705916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccatgtggtggtgacagCgaggtcaaaagaaactctac	13	7	12	9	1	2	2	1	1	1	1	2	3	2	2	1	3	4	0	1	3	4	1	rs374234875		C3L-01889_TP	C3L-01889_NB	C	C																c.194C>A	p.Ala65Glu	p.A65E	ENST00000367028	3/7	319	260	59	289	288	1	strelka-varscan-mutect	HSD11B1,missense_variant,p.Ala65Glu,ENST00000367028,NM_181755.2,NM_001206741.1;HSD11B1,missense_variant,p.Ala65Glu,ENST00000367027,NM_005525.3;HSD11B1,missense_variant,p.Ala65Glu,ENST00000261465,;HSD11B1,missense_variant,p.Ala65Glu,ENST00000615289,;RP1-28O10.1,intron_variant,,ENST00000441672,;	A	ENST00000367028	Transcript	missense_variant	348/1461	194/879	65/292	A/E	gCg/gAg	rs374234875	1		1	HSD11B1	HGNC	HGNC:5208	protein_coding	YES	CCDS1489.1	ENSP00000355995	P28845	X5D2L1	UPI000004C796	NM_181755.2,NM_001206741.1	deleterious(0)		3/7		Gene3D:3.40.50.720,Pfam_domain:PF00106,hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF249,Superfamily_domains:SSF51735																	MODERATE		SNV	5			1										PASS		rs374234875	.												A	3	1	28	209705916	209705916	C	A	1	0	0	0	0	1	0	0	0	7270	768	27	1		1	HSD11B1	1	209705916	Missense_Mutation	SNP	C	C3L-01889_TP	4633895	209705916	39250506	15	8123											
RYR2	0	.	GRCh38	chr1	237702036	237702036	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttatatgctttgggaacCagcaagagtatttacgtgga	12	12	11	6	1	0	1	0	0	0	1	0	3	0	3	1	2	5	4	1	2	6	6	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.9426C>T	p.=	p.T3142T	ENST00000366574	66/105	285	243	42	196	196	0	strelka-varscan-mutect	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	T	ENST00000366574	Transcript	synonymous_variant	9743/16562	9426/14904	3142/4967	T	acC/acT		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			66/105																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	28	237702036	237702036	C	T	1	0	0	0	0	0	0	0	1	14029	581	21	3		3	RYR2	1	237702036	Silent	SNP	C	C3L-01889_TP	27996120	237702036	11254386	16	8124											
AKT3	0	.	GRCh38	chr1	243695604	243695604	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttacttgccactgaaaaGttgttgaggggataaggtaa	14	11	11	5	0	0	2	0	2	0	0	0	3	0	3	1	3	3	3	1	3	6	6	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.159C>G	p.Asn53Lys	p.N53K	ENST00000263826	2/13	210	110	100	145	145	0	strelka-varscan-mutect	AKT3,missense_variant,p.Asn53Lys,ENST00000263826,NM_005465.4;AKT3,missense_variant,p.Asn53Lys,ENST00000366539,;AKT3,missense_variant,p.Asn53Lys,ENST00000336199,NM_181690.2;AKT3,missense_variant,p.Asn53Lys,ENST00000366540,NM_001206729.1;AKT3,missense_variant,p.Asn53Lys,ENST00000552631,;AKT3,non_coding_transcript_exon_variant,,ENST00000490018,;AKT3,non_coding_transcript_exon_variant,,ENST00000491219,;AKT3,non_coding_transcript_exon_variant,,ENST00000463991,;	C	ENST00000263826	Transcript	missense_variant	271/7081	159/1440	53/479	N/K	aaC/aaG		1		-1	AKT3	HGNC	HGNC:393	protein_coding	YES	CCDS31077.1	ENSP00000263826	Q9Y243		UPI00000335E8	NM_005465.4	tolerated(0.07)		2/13		PROSITE_profiles:PS50003,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF190,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		rs1415162628	.												C	3	2	28	243695604	243695604	G	C	1	0	0	0	0	1	0	0	0	564	1020	36	4		4	AKT3	1	243695604	Missense_Mutation	SNP	G	C3L-01889_TP	5993568	243695604	5260818	17	8125											
NBAS	0	.	GRCh38	chr2	15558613	15558613	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgatgataaaggatgcacCatgtttttggttgcctctag	9	14	11	7	1	1	2	0	2	1	0	1	3	1	3	2	2	2	3	2	2	3	5	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.139G>C	p.Gly47Arg	p.G47R	ENST00000281513	2/52	273	215	58	278	278	0	strelka-varscan-mutect	NBAS,missense_variant,p.Gly47Arg,ENST00000281513,NM_015909.3;	G	ENST00000281513	Transcript	missense_variant	165/7281	139/7116	47/2371	G/R	Ggt/Cgt		1		-1	NBAS	HGNC	HGNC:15625	protein_coding	YES	CCDS1685.1	ENSP00000281513	A2RRP1		UPI00001AEA68	NM_015909.3	deleterious(0.01)		2/52		hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	28	15558613	15558613	C	G	1	0	0	0	0	1	0	0	0	10197	594	21	4		4	NBAS	2	15558613	Missense_Mutation	SNP	C	C3L-01889_TP		15558613	226634916	18	8126											
NT5C1B	0	.	GRCh38	chr2	18587127	18587127	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacgacgagtgaccctggAaggggcaacatctcagcgag	12	5	13	11	3	1	1	1	1	1	0	2	5	1	2	1	3	3	1	1	3	3	1	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.167T>A	p.Phe56Tyr	p.F56Y	ENST00000359846	3/10	167	143	24	121	121	0	strelka-varscan-mutect	NT5C1B,missense_variant,p.Phe56Tyr,ENST00000359846,NM_001002006.2,NM_001199087.1,NM_001199088.1,NM_001199086.1;NT5C1B-RDH14,missense_variant,p.Phe56Tyr,ENST00000532967,NM_001199104.1;NT5C1B,missense_variant,p.Phe56Tyr,ENST00000416783,;NT5C1B,intron_variant,,ENST00000304081,NM_033253.3;NT5C1B-RDH14,intron_variant,,ENST00000444297,NM_001199103.1;NT5C1B,upstream_gene_variant,,ENST00000418427,;RNU6-1215P,upstream_gene_variant,,ENST00000384441,;NT5C1B,intron_variant,,ENST00000460052,;NT5C1B,intron_variant,,ENST00000406971,;NT5C1B,upstream_gene_variant,,ENST00000490687,;	T	ENST00000359846	Transcript	missense_variant	245/2475	167/1833	56/610	F/Y	tTc/tAc		1		-1	NT5C1B	HGNC	HGNC:17818	protein_coding	YES	CCDS33150.1	ENSP00000352904	Q96P26	A0A140VJC7	UPI000035B1B0	NM_001002006.2,NM_001199087.1,NM_001199088.1,NM_001199086.1	deleterious_low_confidence(0)		3/10		hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	18587127	18587127	A	T	1	0	0	0	0	1	0	0	0	10749	246	9	4		4	NT5C1B	2	18587127	Missense_Mutation	SNP	A	C3L-01889_TP	3028514	18587127	223606402	19	8127											
NRXN1	0	.	GRCh38	chr2	51027856	51027856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccctgcgcttggacttgaCctccacccacttggcctcca	5	10	8	18	1	0	1	0	1	0	0	3	2	3	2	6	2	1	1	6	2	0	3	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.418G>T	p.Val140Phe	p.V140F	ENST00000404971	2/24	406	296	110	369	369	0	strelka-varscan	NRXN1,missense_variant,p.Val140Phe,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Val140Phe,ENST00000625672,;NRXN1,missense_variant,p.Val140Phe,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Val140Phe,ENST00000401669,;NRXN1,missense_variant,p.Val140Phe,ENST00000405472,;NRXN1,missense_variant,p.Val140Phe,ENST00000405581,;NRXN1,missense_variant,p.Val140Phe,ENST00000630543,;NRXN1,missense_variant,p.Val140Phe,ENST00000637511,;NRXN1,missense_variant,p.Val140Phe,ENST00000628515,;NRXN1,missense_variant,p.Val140Phe,ENST00000626899,;NRXN1,upstream_gene_variant,,ENST00000636066,;NRXN1,upstream_gene_variant,,ENST00000627198,;NRXN1,upstream_gene_variant,,ENST00000496792,;AC007682.1,upstream_gene_variant,,ENST00000440698,;NRXN1,downstream_gene_variant,,ENST00000635310,;NRXN1,downstream_gene_variant,,ENST00000635126,;NRXN1,downstream_gene_variant,,ENST00000636599,;NRXN1,upstream_gene_variant,,ENST00000637679,;NRXN1,downstream_gene_variant,,ENST00000638060,;NRXN1,downstream_gene_variant,,ENST00000637006,;	A	ENST00000404971	Transcript	missense_variant	1758/7578	418/4644	140/1547	V/F	Gtc/Ttc		1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	deleterious(0.04)		2/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	51027856	51027856	C	A	1	0	0	0	0	1	0	0	0	10724	507	18	2		2	NRXN1	2	51027856	Missense_Mutation	SNP	C	C3L-01889_TP	32440729	51027856	191165673	20	8128											
CNGA3	0	.	GRCh38	chr2	98395917	98395917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagacgaccacgcagttCaagctggatgtgttgtccct	10	10	10	11	2	1	1	1	0	0	1	2	3	2	2	2	1	2	4	2	1	3	3	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.747C>A	p.Phe249Leu	p.F249L	ENST00000393504	8/8	183	128	55	197	197	0	strelka-varscan	CNGA3,missense_variant,p.Phe249Leu,ENST00000393504,NM_001298.2;CNGA3,missense_variant,p.Phe249Leu,ENST00000272602,;CNGA3,missense_variant,p.Phe253Leu,ENST00000409937,;CNGA3,missense_variant,p.Phe231Leu,ENST00000436404,NM_001079878.1;	A	ENST00000393504	Transcript	missense_variant	1164/3841	747/2085	249/694	F/L	ttC/ttA		1		1	CNGA3	HGNC	HGNC:2150	protein_coding	YES	CCDS2034.1	ENSP00000377140	Q16281		UPI000004717B	NM_001298.2	deleterious(0)		8/8		hmmpanther:PTHR10217:SF390,hmmpanther:PTHR10217,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	28	98395917	98395917	C	A	1	0	0	0	0	1	0	0	0	3378	825	29	2		2	CNGA3	2	98395917	Missense_Mutation	SNP	C	C3L-01889_TP	47368061	98395917	143797612	21	8129											
CCDC74B	0	.	GRCh38	chr2	130140259	130140259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtggtgggctttcgcaGgggaaggggcaggatcattg	8	9	19	5	1	1	0	1	0	0	0	2	2	1	2	0	7	0	3	0	7	2	2	rs745983669		C3L-01889_TP	C3L-01889_NB	G	G																c.796C>A	p.Leu266Met	p.L266M	ENST00000310463	5/8	127	95	32	131	131	0	strelka-varscan	CCDC74B,missense_variant,p.Leu266Met,ENST00000310463,NM_207310.2;CCDC74B,missense_variant,p.Leu200Met,ENST00000409943,NM_001258307.1;CCDC74B,intron_variant,,ENST00000392984,;CCDC74B,downstream_gene_variant,,ENST00000409234,;CCDC74B,downstream_gene_variant,,ENST00000409128,;CCDC74B,downstream_gene_variant,,ENST00000457413,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,downstream_gene_variant,,ENST00000423263,;CCDC74B,downstream_gene_variant,,ENST00000434929,;CCDC74B,upstream_gene_variant,,ENST00000498526,;MED15P9,downstream_gene_variant,,ENST00000424716,;	T	ENST00000310463	Transcript	missense_variant	934/1549	796/1143	266/380	L/M	Ctg/Atg	rs745983669	1		-1	CCDC74B	HGNC	HGNC:25267	protein_coding	YES	CCDS2155.1	ENSP00000308873	Q96LY2		UPI000006D822	NM_207310.2	tolerated(0.16)		5/8		Low_complexity_(Seg):seg,hmmpanther:PTHR14882,hmmpanther:PTHR14882:SF5,Pfam_domain:PF14917																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	28	130140259	130140259	G	T	1	0	0	0	0	1	0	0	0	2548	991	35	2		2	CCDC74B	2	130140259	Missense_Mutation	SNP	G	C3L-01889_TP	31744342	130140259	112053270	22	8130											
LRP1B	0	.	GRCh38	chr2	140335815	140335815	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acccagtcaactgcaatgtcCctgggccttttaaattcagg	10	11	8	12	0	2	0	2	0	0	0	3	0	3	0	3	2	2	1	3	2	4	3	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.11916G>T	p.Arg3972Ser	p.R3972S	ENST00000389484	78/91	175	126	49	224	224	0	strelka-varscan	LRP1B,missense_variant,p.Arg3972Ser,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Arg204Ser,ENST00000437977,;	A	ENST00000389484	Transcript	missense_variant	12888/16535	11916/13800	3972/4599	R/S	agG/agT		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(0.06)		78/91		PROSITE_profiles:PS51120,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	140335815	140335815	C	A	1	0	0	0	0	1	0	0	0	8850	622	22	2		2	LRP1B	2	140335815	Missense_Mutation	SNP	C	C3L-01889_TP	10195556	140335815	101857714	23	8131											
BAZ2B	0	.	GRCh38	chr2	159453625	159453625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtttacctggaaaagatgCtagttggggatgtgcggcta	10	12	14	5	1	0	1	0	0	0	1	0	3	0	3	1	4	3	4	1	4	5	5	rs749608430		C3L-01889_TP	C3L-01889_NB	C	C																c.322G>T	p.Ala108Ser	p.A108S	ENST00000392783	4/37	92	65	27	111	111	0	strelka-varscan	BAZ2B,missense_variant,p.Ala108Ser,ENST00000392783,NM_013450.3;BAZ2B,missense_variant,p.Ala108Ser,ENST00000392782,NM_001289975.1;BAZ2B,missense_variant,p.Ala108Ser,ENST00000437839,;BAZ2B,5_prime_UTR_variant,,ENST00000343439,;BAZ2B,intron_variant,,ENST00000541068,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000482503,;BAZ2B,downstream_gene_variant,,ENST00000483316,;BAZ2B,intron_variant,,ENST00000467184,;	A	ENST00000392783	Transcript	missense_variant	818/8289	322/6507	108/2168	A/S	Gca/Tca	rs749608430	1		-1	BAZ2B	HGNC	HGNC:963	protein_coding	YES	CCDS2209.2	ENSP00000376534	Q9UIF8		UPI0000D74C4A	NM_013450.3	tolerated_low_confidence(0.12)		4/37																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	28	159453625	159453625	C	A	1	0	0	0	0	1	0	0	0	1477	797	28	2		2	BAZ2B	2	159453625	Missense_Mutation	SNP	C	C3L-01889_TP	19117810	159453625	82739904	24	8132											
LRP2	0	.	GRCh38	chr2	169207098	169207098	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttggtctctgcccatagtCagcccagaagaggtatctgt	8	12	10	11	0	3	2	1	0	2	2	4	2	3	2	2	2	2	1	2	2	3	3	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.6622G>C	p.Asp2208His	p.D2208H	ENST00000263816	39/79	84	66	18	125	125	0	strelka-varscan	LRP2,missense_variant,p.Asp2208His,ENST00000263816,NM_004525.2;	G	ENST00000263816	Transcript	missense_variant	6908/15808	6622/13968	2208/4655	D/H	Gac/Cac		1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2	deleterious(0)		39/79		Gene3D:2.120.10.30,Pfam_domain:PF00058,PROSITE_profiles:PS51120,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	28	169207098	169207098	C	G	1	0	0	0	0	1	0	0	0	8851	826	29	4		4	LRP2	2	169207098	Missense_Mutation	SNP	C	C3L-01889_TP	9753473	169207098	72986431	25	8133											
ORC2	0	.	GRCh38	chr2	200935810	200935810	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgactgcattagtgtcctcTtcatgttcctgtgcaacccc	7	14	7	13	0	2	1	1	1	1	0	4	1	4	1	4	0	3	3	4	0	2	3	novel		C3L-01889_TP	C3L-01889_NB	T	T																c.597A>G	p.=	p.E199E	ENST00000234296	9/18	237	176	61	247	247	0	strelka-varscan	ORC2,synonymous_variant,p.=,ENST00000234296,NM_006190.4;ORC2,non_coding_transcript_exon_variant,,ENST00000474877,;	C	ENST00000234296	Transcript	synonymous_variant	847/4312	597/1734	199/577	E	gaA/gaG		1		-1	ORC2	HGNC	HGNC:8488	protein_coding	YES	CCDS2334.1	ENSP00000234296	Q13416	A0A024R411	UPI0000130E5A	NM_006190.4			9/18		hmmpanther:PTHR14052,hmmpanther:PTHR14052:SF0																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	28	200935810	200935810	T	C	1	0	0	0	0	0	0	0	1	11328	1606	56	5		5	ORC2	2	200935810	Silent	SNP	T	C3L-01889_TP	31728712	200935810	41257719	26	8134											
NYAP2	0	.	GRCh38	chr2	225582924	225582924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagccccgggtggctccCggtcccggacacccacgagc	5	3	15	18	4	0	0	0	0	0	0	2	2	2	1	5	5	2	2	5	5	0	0	rs752903462		C3L-01889_TP	C3L-01889_NB	C	C																c.1507C>T	p.Arg503Trp	p.R503W	ENST00000636099	5/7	289	229	60	237	237	0	strelka-varscan	NYAP2,missense_variant,p.Arg503Trp,ENST00000636099,;NYAP2,missense_variant,p.Arg503Trp,ENST00000272907,NM_020864.1;	T	ENST00000636099	Transcript	missense_variant	2553/5461	1507/1962	503/653	R/W	Cgg/Tgg	rs752903462,COSM3798691	1		1	NYAP2	HGNC	HGNC:29291	protein_coding	YES	CCDS46529.1	ENSP00000490942			UPI00001C1DB6		deleterious(0.01)		5/7		hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF1,Pfam_domain:PF15452											0,1						MODERATE	1	SNV			0,1	1										PASS		.	.												T	3	4	28	225582924	225582924	C	T	1	0	0	0	0	1	0	0	0	10873	643	23	1		1	NYAP2	2	225582924	Missense_Mutation	SNP	C	C3L-01889_TP	24647114	225582924	16610605	27	8135											
SLC16A14	0	.	GRCh38	chr2	230059168	230059168	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctggtggaattcttccAgccattccacgttgaggaca	8	11	11	11	1	2	1	0	1	2	0	4	3	4	3	3	4	1	2	3	4	1	4	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.185T>A	p.Leu62Gln	p.L62Q	ENST00000295190	2/5	144	112	32	131	131	0	strelka-varscan-mutect	SLC16A14,missense_variant,p.Leu62Gln,ENST00000295190,NM_152527.4;SLC16A14,missense_variant,p.Leu62Gln,ENST00000457406,;SLC16A14,missense_variant,p.Leu62Gln,ENST00000412034,;SLC16A14,downstream_gene_variant,,ENST00000436869,;SLC16A14,downstream_gene_variant,,ENST00000425822,;RNY4P19,upstream_gene_variant,,ENST00000362530,;	T	ENST00000295190	Transcript	missense_variant	644/4398	185/1533	62/510	L/Q	cTg/cAg		1		-1	SLC16A14	HGNC	HGNC:26417	protein_coding	YES	CCDS2473.1	ENSP00000295190	Q7RTX9		UPI000004EE99	NM_152527.4	deleterious(0)		2/5		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF121,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	230059168	230059168	A	T	1	0	0	0	0	1	0	0	0	14673	188	7	4		4	SLC16A14	2	230059168	Missense_Mutation	SNP	A	C3L-01889_TP	4476244	230059168	12134361	28	8136											
SP140	0	.	GRCh38	chr2	230294306	230294306	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcctccaagaatacgttaCaggaaaaaaaaggtgattat	18	9	8	6	1	0	2	0	1	0	1	2	4	2	3	2	2	2	1	2	2	9	3	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.2004C>G	p.Tyr668Ter	p.Y668*	ENST00000392045	21/27	105	82	23	132	132	0	strelka-varscan-mutect	SP140,stop_gained,p.Tyr668Ter,ENST00000392045,NM_007237.4;SP140,stop_gained,p.Tyr641Ter,ENST00000420434,NM_001278451.1;SP140,stop_gained,p.Tyr608Ter,ENST00000343805,NM_001278452.1;SP140,stop_gained,p.Tyr554Ter,ENST00000417495,NM_001278453.1;SP140,non_coding_transcript_exon_variant,,ENST00000486750,;	G	ENST00000392045	Transcript	stop_gained	2118/3246	2004/2604	668/867	Y/*	taC/taG		1		1	SP140	HGNC	HGNC:17133	protein_coding	YES	CCDS42831.1	ENSP00000375899	Q13342		UPI0000209746	NM_007237.4			21/27		Low_complexity_(Seg):seg																	HIGH	1	SNV	2			1										PASS		rs1165216065	.												G	4	3	28	230294306	230294306	C	G	1	0	0	0	0	0	1	0	0	15288	489	17	4		4	SP140	2	230294306	Nonsense_Mutation	SNP	C	C3L-01889_TP	235138	230294306	11899223	29	8137											
EFHB	0	.	GRCh38	chr3	19933280	19933280	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccagagtatatgggtcTgatgcgatctggaggttcca	8	12	12	9	1	2	2	0	1	2	1	4	4	4	3	2	3	1	2	2	3	2	4	novel		C3L-01889_TP	C3L-01889_NB	T	T																c.739A>C	p.=	p.R247R	ENST00000295824	1/13	144	108	36	172	172	0	varscan-mutect	EFHB,synonymous_variant,p.=,ENST00000295824,NM_144715.3;EFHB,synonymous_variant,p.=,ENST00000344838,;EFHB,synonymous_variant,p.=,ENST00000440022,;EFHB,non_coding_transcript_exon_variant,,ENST00000498089,;EFHB,synonymous_variant,p.=,ENST00000389256,;	G	ENST00000295824	Transcript	synonymous_variant	901/2823	739/2502	247/833	R	Aga/Cga		1		-1	EFHB	HGNC	HGNC:26330	protein_coding	YES	CCDS33715.2	ENSP00000295824	Q8N7U6		UPI0000209A4C	NM_144715.3			1/13		hmmpanther:PTHR12086:SF12,hmmpanther:PTHR12086																	LOW	1	SNV	1			1										PASS		rs1339742005	.												G	2	3	28	19933280	19933280	T	G	1	0	0	0	0	0	0	0	1	4780	1588	55	5		5	EFHB	3	19933280	Silent	SNP	T	C3L-01889_TP		19933280	178362279	30	8138											
SCN11A	0	.	GRCh38	chr3	38919952	38919952	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgttacccatccagatGccacacattttgaattcagg	11	12	6	12	0	1	2	1	1	0	1	2	2	2	2	4	1	3	1	4	1	3	5	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.942C>A	p.=	p.G314G	ENST00000302328	7/26	230	174	56	214	214	0	strelka-varscan-mutect	SCN11A,synonymous_variant,p.=,ENST00000302328,NM_014139.2,NM_001287223.1;SCN11A,synonymous_variant,p.=,ENST00000444237,;SCN11A,synonymous_variant,p.=,ENST00000456224,;	T	ENST00000302328	Transcript	synonymous_variant	1141/6500	942/5376	314/1791	G	ggC/ggA		1		-1	SCN11A	HGNC	HGNC:10583	protein_coding	YES	CCDS33737.1	ENSP00000307599	Q9UI33		UPI000006CCD7	NM_014139.2,NM_001287223.1			7/26		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF210																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	28	38919952	38919952	G	T	1	0	0	0	0	0	0	0	1	14182	1306	46	2		2	SCN11A	3	38919952	Silent	SNP	G	C3L-01889_TP	18986672	38919952	159375607	31	8139											
CCR1	0	.	GRCh38	chr3	46203512	46203512	+	Frame_Shift_Del	DEL	G	G	-																															ctcacactcatgggtgaacaGgaagtcttggaaaacagaaa																								novel		C3L-01889_TP	C3L-01889_NB	G	G																c.802delC	p.Leu268CysfsTer18	p.L268Cfs*18	ENST00000296140	2/2	131	100	31	218	218	0	sindel-varindel-pindel	CCR1,frameshift_variant,p.Leu268CysfsTer18,ENST00000296140,NM_001295.2;CCR3,intron_variant,,ENST00000357422,;	-	ENST00000296140	Transcript	frameshift_variant	928/2731	802/1068	268/355	L/X	Ctg/tg		1		-1	CCR1	HGNC	HGNC:1602	protein_coding	YES	CCDS2737.1	ENSP00000296140	P32246	Q5U003	UPI0000043584	NM_001295.2			2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR10489:SF711,hmmpanther:PTHR10489,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01106																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	28	46203512	46203512	G	-	1	0	1	0	1	0	0	0	0	2639	991	35	0		0	CCR1	3	46203512	Frame_Shift_Del	DEL	G	C3L-01889_TP	7283560	46203512	152092047	32	8140											
SYNPR	0	.	GRCh38	chr3	63278544	63278544	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcgagctatggaccctgTgagtcaggtgagacagaact	11	7	15	8	1	1	3	1	2	0	2	1	6	1	4	1	3	2	1	1	3	2	1			C3L-01889_TP	C3L-01889_NB	T	T																c.11T>A	p.Val4Glu	p.V4E	ENST00000478300	1/6	92	74	18	78	78	0	strelka-varscan-mutect	SYNPR,missense_variant,p.Val4Glu,ENST00000478300,NM_001130003.1;SYNPR,missense_variant,p.Val4Glu,ENST00000450542,;SYNPR,intron_variant,,ENST00000478456,;SYNPR,upstream_gene_variant,,ENST00000496889,;SYNPR,upstream_gene_variant,,ENST00000460142,;SYNPR,missense_variant,p.Val4Glu,ENST00000468110,;	A	ENST00000478300	Transcript	missense_variant	422/2709	11/858	4/285	V/E	gTg/gAg	COSM1047994	1		1	SYNPR	HGNC	HGNC:16507	protein_coding	YES	CCDS46859.1	ENSP00000418994	Q8TBG9		UPI00005796D8	NM_001130003.1	deleterious(0)		1/6		hmmpanther:PTHR10306,hmmpanther:PTHR10306:SF16											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	28	63278544	63278544	T	A	1	0	0	0	0	1	0	0	0	15853	1696	59	4		4	SYNPR	3	63278544	Missense_Mutation	SNP	T	C3L-01889_TP	17075032	63278544	135017015	33	8141											
SHQ1	0	.	GRCh38	chr3	72792945	72792945	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatccacacacagtagtcTgagatgtagagatcattcag	14	10	9	8	0	3	3	2	2	1	2	4	5	4	3	1	0	0	2	1	0	3	3	novel		C3L-01889_TP	C3L-01889_NB	T	T																c.1152A>G	p.=	p.S384S	ENST00000325599	10/11	245	183	62	246	245	1	strelka-varscan-mutect	SHQ1,synonymous_variant,p.=,ENST00000325599,NM_018130.2;SHQ1,synonymous_variant,p.=,ENST00000463369,;SHQ1,non_coding_transcript_exon_variant,,ENST00000468371,;SHQ1,3_prime_UTR_variant,,ENST00000444040,;	C	ENST00000325599	Transcript	synonymous_variant	1292/2879	1152/1734	384/577	S	tcA/tcG		1		-1	SHQ1	HGNC	HGNC:25543	protein_coding	YES	CCDS33788.1	ENSP00000315182	Q6PI26		UPI00001416C5	NM_018130.2			10/11		Pfam_domain:PF04925,hmmpanther:PTHR12967,hmmpanther:PTHR12967:SF0																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	28	72792945	72792945	T	C	1	0	0	0	0	0	0	0	1	14555	1567	55	5		5	SHQ1	3	72792945	Silent	SNP	T	C3L-01889_TP	9514401	72792945	125502614	34	8142											
EPHA6	0	.	GRCh38	chr3	96866836	96866836	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taattccagttgtgttgcttGatacaacaactgtactggga	11	14	9	7	0	0	1	0	1	0	0	1	2	1	2	1	1	5	4	1	1	5	7	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.397G>C	p.Asp133His	p.D133H	ENST00000389672	2/18	183	145	38	191	191	0	strelka-varscan-mutect	EPHA6,missense_variant,p.Asp133His,ENST00000389672,NM_001080448.2;EPHA6,missense_variant,p.Asp133His,ENST00000470610,;EPHA6,missense_variant,p.Asp78His,ENST00000506569,NM_001278301.1;	C	ENST00000389672	Transcript	missense_variant	435/3971	397/3393	133/1130	D/H	Gat/Cat		1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2	deleterious(0)		2/18		Gene3D:2.60.120.260,Pfam_domain:PF01404,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,SMART_domains:SM00615,Superfamily_domains:SSF49785																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	28	96866836	96866836	G	C	1	0	0	0	0	1	0	0	0	5018	1290	45	4		4	EPHA6	3	96866836	Missense_Mutation	SNP	G	C3L-01889_TP	24073891	96866836	101428723	35	8143											
OR5H15	0	.	GRCh38	chr3	98168777	98168777	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaccacagtggaaaataccCctgttcttggcattcttggt	10	12	8	11	0	2	0	0	0	2	0	2	1	2	1	3	3	2	2	3	3	4	5	rs188567114		C3L-01889_TP	C3L-01889_NB	C	C																c.78C>A	p.=	p.P26P	ENST00000356526	1/1	270	203	67	255	254	1	strelka-varscan-mutect	OR5H15,synonymous_variant,p.=,ENST00000356526,NM_001005515.1;OR5H15,synonymous_variant,p.=,ENST00000615035,;	A	ENST00000356526	Transcript	synonymous_variant	78/942	78/942	26/313	P	ccC/ccA	rs188567114,COSM5260318	1		1	OR5H15	HGNC	HGNC:31287	protein_coding	YES	CCDS33799.1	ENSP00000373195	A6NDH6		UPI00001606CE	NM_001005515.1			1/1		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF325,Superfamily_domains:SSF81321											0,1						LOW	1	SNV			0,1	1										PASS		rs188567114	.												A	2	1	28	98168777	98168777	C	A	1	0	0	0	0	0	0	0	1	11231	610	22	2		2	OR5H15	3	98168777	Silent	SNP	C	C3L-01889_TP	1301941	98168777	100126782	36	8144											
ESYT3	0	.	GRCh38	chr3	138434814	138434814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgagatgcgagcagaggagCcctgcgcccccggggccccc	7	2	15	17	4	0	2	0	0	0	2	0	5	0	3	5	3	4	1	5	3	0	0	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.16C>T	p.Pro6Ser	p.P6S	ENST00000389567	1/23	75	61	14	81	81	0	strelka-varscan-mutect	ESYT3,missense_variant,p.Pro6Ser,ENST00000389567,NM_031913.3;ESYT3,missense_variant,p.Pro6Ser,ENST00000289135,;ESYT3,missense_variant,p.Pro6Ser,ENST00000490835,;ESYT3,non_coding_transcript_exon_variant,,ENST00000486831,;	T	ENST00000389567	Transcript	missense_variant	202/4407	16/2661	6/886	P/S	Ccc/Tcc		1		1	ESYT3	HGNC	HGNC:24295	protein_coding	YES	CCDS3101.2	ENSP00000374218	A0FGR9		UPI0000251E45	NM_031913.3	tolerated(0.07)		1/23																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	138434814	138434814	C	T	1	0	0	0	0	1	0	0	0	5128	739	26	3		3	ESYT3	3	138434814	Missense_Mutation	SNP	C	C3L-01889_TP	40266037	138434814	59860745	37	8145											
RNF13	0	.	GRCh38	chr3	149872115	149872115	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcatctggcactttcatCgtgttaattagaagacttga	12	15	7	7	1	3	3	2	1	1	2	4	3	3	3	0	1	0	2	0	1	4	5	rs142620410		C3L-01889_TP	C3L-01889_NB	C	C																c.282C>A	p.=	p.I94I	ENST00000344229	5/11	130	100	30	150	150	0	strelka-varscan-mutect	RNF13,synonymous_variant,p.=,ENST00000344229,NM_007282.4;RNF13,synonymous_variant,p.=,ENST00000392894,NM_183381.2;RNF13,synonymous_variant,p.=,ENST00000459632,;RNF13,synonymous_variant,p.=,ENST00000466795,;RNF13,synonymous_variant,p.=,ENST00000490631,;RNF13,synonymous_variant,p.=,ENST00000468648,;RNF13,5_prime_UTR_variant,,ENST00000361785,;RNF13,5_prime_UTR_variant,,ENST00000491086,;RNF13,5_prime_UTR_variant,,ENST00000467977,;RNF13,downstream_gene_variant,,ENST00000470151,;RNF13,downstream_gene_variant,,ENST00000466478,;ANKUB1,intron_variant,,ENST00000481585,;RNF13,synonymous_variant,p.=,ENST00000474348,;RNF13,5_prime_UTR_variant,,ENST00000467996,;	A	ENST00000344229	Transcript	synonymous_variant	984/2866	282/1146	94/381	I	atC/atA	rs142620410	1		1	RNF13	HGNC	HGNC:10057	protein_coding	YES	CCDS3146.1	ENSP00000341361	O43567		UPI0000134318	NM_007282.4			5/11		Gene3D:3.50.30.30,Pfam_domain:PF02225,hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF34,Superfamily_domains:SSF52025																	LOW	1	SNV	1			1										PASS		rs142620410	.												A	2	1	28	149872115	149872115	C	A	1	0	0	0	0	0	0	0	1	13615	874	31	1		1	RNF13	3	149872115	Silent	SNP	C	C3L-01889_TP	11437301	149872115	48423444	38	8146											
SAMD7	0	.	GRCh38	chr3	169927117	169927117	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaggaggcttcggagcaGatttttgcaacctgtgatga	12	10	13	6	1	0	4	0	2	0	2	1	6	0	6	1	3	3	3	1	3	2	3	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.855G>A	p.=	p.Q285Q	ENST00000428432	6/9	48	37	11	57	57	0	strelka-varscan-mutect	SAMD7,synonymous_variant,p.=,ENST00000428432,NM_182610.3;SAMD7,synonymous_variant,p.=,ENST00000335556,NM_001304366.1;SAMD7,3_prime_UTR_variant,,ENST00000487910,;RP11-379K17.2,upstream_gene_variant,,ENST00000493762,;	A	ENST00000428432	Transcript	synonymous_variant	1244/2399	855/1341	285/446	Q	caG/caA		1		1	SAMD7	HGNC	HGNC:25394	protein_coding	YES	CCDS3209.1	ENSP00000391299	Q7Z3H4		UPI00001A9D13	NM_182610.3			6/9		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF89																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	28	169927117	169927117	G	A	1	0	0	0	0	0	0	0	1	14084	933	33	3		3	SAMD7	3	169927117	Silent	SNP	G	C3L-01889_TP	20055002	169927117	28368442	39	8147											
CPN2	0	.	GRCh38	chr3	194341344	194341344	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggccacgtgacctggaaGcccaagtggtcccgggtgac	7	6	14	14	3	0	2	0	2	0	0	2	3	2	3	5	4	1	0	5	4	2	0	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.1359C>A	p.=	p.G453G	ENST00000323830	2/2	190	131	59	165	165	0	strelka-varscan-mutect	CPN2,synonymous_variant,p.=,ENST00000323830,NM_001291988.1,NM_001080513.3;CPN2,synonymous_variant,p.=,ENST00000429275,;	T	ENST00000323830	Transcript	synonymous_variant	1449/3028	1359/1638	453/545	G	ggC/ggA		1		-1	CPN2	HGNC	HGNC:2313	protein_coding	YES	CCDS33920.1	ENSP00000319464	P22792		UPI0001AE76B7	NM_001291988.1,NM_001080513.3			2/2		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF278																	LOW	1	SNV	1			1										PASS		rs973433962	.												T	2	4	28	194341344	194341344	G	T	1	0	0	0	0	0	0	0	1	3605	958	34	2		2	CPN2	3	194341344	Silent	SNP	G	C3L-01889_TP	24414227	194341344	3954215	40	8148											
FAM43A	0	.	GRCh38	chr3	194687275	194687275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtggccgacgcgcggctgcCcaaggtcttcgcctgggtgt	3	8	16	14	6	1	0	0	0	1	0	2	1	1	0	3	4	1	1	3	4	1	1	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.449C>T	p.Pro150Leu	p.P150L	ENST00000329759	1/1	159	126	33	163	163	0	strelka-varscan-mutect	FAM43A,missense_variant,p.Pro150Leu,ENST00000329759,NM_153690.4;	T	ENST00000329759	Transcript	missense_variant	732/2494	449/1272	150/423	P/L	cCc/cTc		1		1	FAM43A	HGNC	HGNC:26888	protein_coding	YES	CCDS33923.1	ENSP00000371397	Q8N2R8		UPI0000074368	NM_153690.4	deleterious(0)		1/1		hmmpanther:PTHR11232:SF36,hmmpanther:PTHR11232,Pfam_domain:PF14719,Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	28	194687275	194687275	C	T	1	0	0	0	0	1	0	0	0	5440	623	22	3		3	FAM43A	3	194687275	Missense_Mutation	SNP	C	C3L-01889_TP	345931	194687275	3608284	41	8149											
GABRG1	0	.	GRCh38	chr4	46041245	46041245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggatccaggatggagacCaggagtcatctgagcacaat	13	7	13	8	0	2	2	1	1	1	1	3	6	3	5	2	4	1	1	2	4	1	0	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.1141G>T	p.Gly381Cys	p.G381C	ENST00000295452	9/9	133	112	21	165	164	1	strelka-varscan-mutect	GABRG1,missense_variant,p.Gly381Cys,ENST00000295452,NM_173536.3;	A	ENST00000295452	Transcript	missense_variant	1309/6785	1141/1398	381/465	G/C	Ggt/Tgt		1		-1	GABRG1	HGNC	HGNC:4086	protein_coding	YES	CCDS3470.1	ENSP00000295452	Q8N1C3		UPI0000047AE2	NM_173536.3	deleterious(0.04)		9/9		Prints_domain:PR01621,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Superfamily_domains:SSF90112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	46041245	46041245	C	A	1	0	0	0	0	1	0	0	0	6042	594	21	2		2	GABRG1	4	46041245	Missense_Mutation	SNP	C	C3L-01889_TP		46041245	144173310	42	8150											
ADGRL3	0	.	GRCh38	chr4	62031441	62031441	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattttctcttctctctacaGgtcatgggttataggtgcaa	9	16	8	8	0	4	0	1	0	3	0	6	0	4	0	0	3	2	2	0	3	5	6	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.3219-1G>T		p.X1073_splice	ENST00000514591		118	84	34	107	107	0	strelka-varscan-mutect	ADGRL3,splice_acceptor_variant,,ENST00000512091,NM_001322246.1;ADGRL3,splice_acceptor_variant,,ENST00000514591,NM_015236.4;ADGRL3,splice_acceptor_variant,,ENST00000509896,;ADGRL3,splice_acceptor_variant,,ENST00000511324,;ADGRL3,splice_acceptor_variant,,ENST00000508693,;ADGRL3,splice_acceptor_variant,,ENST00000507164,;ADGRL3,splice_acceptor_variant,,ENST00000506720,;ADGRL3,splice_acceptor_variant,,ENST00000506746,;ADGRL3,splice_acceptor_variant,,ENST00000507625,;ADGRL3,splice_acceptor_variant,,ENST00000506700,;ADGRL3,splice_acceptor_variant,,ENST00000504896,;ADGRL3,splice_acceptor_variant,,ENST00000514157,;ADGRL3,splice_acceptor_variant,,ENST00000508946,;ADGRL3,splice_acceptor_variant,,ENST00000514996,;ADGRL3,splice_acceptor_variant,,ENST00000502815,;	T	ENST00000514591	Transcript	splice_acceptor_variant	-/6297	3219/4410	1073/1469				1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4				21/24																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	28	62031441	62031441	G	T	1	0	0	0	0	0	0	1	0	377	1014	35	2		2	ADGRL3	4	62031441	Splice_Site	SNP	G	C3L-01889_TP	15990196	62031441	128183114	43	8151											
PDHA2	0	.	GRCh38	chr4	95840535	95840535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatactcggggactttctGtccgatccattctcgcagag	7	12	10	12	3	2	1	0	0	2	1	6	3	4	2	2	2	1	2	2	2	2	4	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.385G>A	p.Val129Ile	p.V129I	ENST00000295266	1/1	187	141	46	191	191	0	strelka-varscan-mutect	PDHA2,missense_variant,p.Val129Ile,ENST00000295266,NM_005390.4;	A	ENST00000295266	Transcript	missense_variant	517/1456	385/1167	129/388	V/I	Gtc/Atc		1		1	PDHA2	HGNC	HGNC:8807	protein_coding	YES	CCDS3644.1	ENSP00000295266	P29803		UPI0000130C31	NM_005390.4	tolerated(0.22)		1/1		hmmpanther:PTHR11516:SF27,hmmpanther:PTHR11516,Pfam_domain:PF00676,TIGRFAM_domain:TIGR03182,Gene3D:3.40.50.970,Superfamily_domains:SSF52518																	MODERATE	1	SNV				1										PASS		rs1401316578	.												A	3	1	28	95840535	95840535	G	A	1	0	0	0	0	1	0	0	0	11753	1377	48	3		3	PDHA2	4	95840535	Missense_Mutation	SNP	G	C3L-01889_TP	33809094	95840535	94374020	44	8152											
JADE1	0	.	GRCh38	chr4	128861854	128861854	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataggaaacccgaggagagtCttggcaagggggctgcacag	12	5	16	8	1	1	1	0	0	1	1	1	4	1	2	1	5	2	3	1	5	3	2	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.1132C>G	p.Leu378Val	p.L378V	ENST00000226319	9/11	288	216	72	267	267	0	strelka-varscan-mutect	JADE1,missense_variant,p.Leu378Val,ENST00000226319,NM_199320.3;JADE1,missense_variant,p.Leu378Val,ENST00000611140,NM_001287443.1;JADE1,missense_variant,p.Leu378Val,ENST00000610919,NM_001287442.1;JADE1,missense_variant,p.Leu366Val,ENST00000452328,NM_001287437.1;JADE1,missense_variant,p.Leu378Val,ENST00000413543,NM_001287441.1;JADE1,missense_variant,p.Leu378Val,ENST00000511647,NM_024900.4;JADE1,missense_variant,p.Leu378Val,ENST00000512960,NM_001287439.1,NM_001287440.1;SCLT1,downstream_gene_variant,,ENST00000503565,;	G	ENST00000226319	Transcript	missense_variant	1413/5772	1132/2529	378/842	L/V	Ctt/Gtt		1		1	JADE1	HGNC	HGNC:30027	protein_coding	YES	CCDS34062.1	ENSP00000226319	Q6IE81		UPI000020B45B	NM_199320.3	tolerated(0.41)		9/11		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF79																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	28	128861854	128861854	C	G	1	0	0	0	0	1	0	0	0	7844	913	32	4		4	JADE1	4	128861854	Missense_Mutation	SNP	C	C3L-01889_TP	33021319	128861854	61352701	45	8153											
IL15	0	.	GRCh38	chr4	141720549	141720558	+	Frame_Shift_Del	DEL	TCATGTCTTC	TCATGTCTTC	-																															tttctaactgaagctggcatTcatgtcttcattttggggta																								novel		C3L-01889_TP	C3L-01889_NB	TCATGTCTTC	TCATGTCTTC																c.93_102delTCATGTCTTC	p.His32PhefsTer17	p.H32Ffs*17	ENST00000296545	4/8	352	274	78	386	386	0	sindel-varindel-pindel	IL15,frameshift_variant,p.His32PhefsTer17,ENST00000296545,;IL15,frameshift_variant,p.His32PhefsTer17,ENST00000320650,NM_000585.4;IL15,frameshift_variant,p.His32PhefsTer17,ENST00000529613,;IL15,5_prime_UTR_variant,,ENST00000477265,;IL15,5_prime_UTR_variant,,ENST00000514653,NM_172175.2;IL15,upstream_gene_variant,,ENST00000394159,;IL15,non_coding_transcript_exon_variant,,ENST00000505351,;IL15,upstream_gene_variant,,ENST00000509249,;	-	ENST00000296545	Transcript	frameshift_variant	937-946/2472	93-102/489	31-34/162	IHVF/X	atTCATGTCTTC/at		1		1	IL15	HGNC	HGNC:5977	protein_coding	YES	CCDS3755.1	ENSP00000296545	P40933		UPI0000031AC7				4/8		Pfam_domain:PF02372,Prints_domain:PR01947,hmmpanther:PTHR11323,hmmpanther:PTHR11323:SF0																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	28	141720549	141720549	TCATGTCTTC	-	1	0	1	0	1	0	0	0	0	7539	1771	62	0		0	IL15	4	141720549	Frame_Shift_Del	DEL	TCATGTCTTC	C3L-01889_TP	12858695	141720549	48494006	46	8154											
LPCAT1	0	.	GRCh38	chr5	1494865	1494865	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacccggtggaagccgcCggcgaaccacatggtgcgca	8	3	15	15	5	0	0	0	0	0	0	0	2	0	1	5	5	3	1	5	5	2	0	rs369052835		C3L-01889_TP	C3L-01889_NB	C	C																c.328G>T	p.Gly110Cys	p.G110C	ENST00000283415	3/14	213	165	48	166	166	0	strelka-varscan-mutect	LPCAT1,missense_variant,p.Gly110Cys,ENST00000283415,NM_024830.3;LPCAT1,non_coding_transcript_exon_variant,,ENST00000514484,;LPCAT1,missense_variant,p.Gly110Cys,ENST00000475622,;LPCAT1,non_coding_transcript_exon_variant,,ENST00000507282,;LPCAT1,upstream_gene_variant,,ENST00000513757,;	A	ENST00000283415	Transcript	missense_variant	461/3966	328/1605	110/534	G/C	Ggc/Tgc	rs369052835	1		-1	LPCAT1	HGNC	HGNC:25718	protein_coding	YES	CCDS3864.1	ENSP00000283415	Q8NF37		UPI000004771C	NM_024830.3	tolerated(0.07)		3/14		hmmpanther:PTHR23063:SF11,hmmpanther:PTHR23063,Superfamily_domains:0039877																	MODERATE	1	SNV	1			1										PASS		rs369052835	.												A	3	1	28	1494865	1494865	C	A	1	0	0	0	0	1	0	0	0	8813	652	23	1		1	LPCAT1	5	1494865	Missense_Mutation	SNP	C	C3L-01889_TP		1494865	180043394	47	8155											
PRDM9	0	.	GRCh38	chr5	23526850	23526850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgcagggagtgtgggcggGgctttagctggcagtcagtc	5	10	18	8	1	2	0	1	0	1	0	3	1	2	1	0	5	2	4	0	5	1	2	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.1762G>T	p.Gly588Cys	p.G588C	ENST00000296682	11/11	140	104	36	96	96	0	strelka-varscan-mutect	PRDM9,missense_variant,p.Gly588Cys,ENST00000296682,NM_020227.2;PRDM9,downstream_gene_variant,,ENST00000635252,;	T	ENST00000296682	Transcript	missense_variant	1944/3691	1762/2685	588/894	G/C	Ggc/Tgc		1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	deleterious(0)		11/11		PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	23526850	23526850	G	T	1	0	0	0	0	1	0	0	0	12595	1232	43	2		2	PRDM9	5	23526850	Missense_Mutation	SNP	G	C3L-01889_TP	22031985	23526850	158011409	48	8156											
CWC27	0	.	GRCh38	chr5	64971782	64971782	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctttgaggaagcaacaGtcaaagaagggaacttcccg	15	6	12	8	1	1	2	1	1	0	1	2	5	2	4	1	2	4	2	1	2	6	2	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.1122G>A	p.=	p.Q374Q	ENST00000381070	12/14	134	107	27	152	152	0	strelka-varscan-mutect	CWC27,synonymous_variant,p.=,ENST00000381070,NM_001297644.1,NM_005869.3;CWC27,non_coding_transcript_exon_variant,,ENST00000545000,;	A	ENST00000381070	Transcript	synonymous_variant	1339/2078	1122/1419	374/472	Q	caG/caA		1		1	CWC27	HGNC	HGNC:10664	protein_coding	YES	CCDS3982.2	ENSP00000370460	Q6UX04		UPI0000048ECC	NM_001297644.1,NM_005869.3			12/14		Coiled-coils_(Ncoils):Coil																	LOW	1	SNV	1			1										PASS		rs1325597558	.												A	2	1	28	64971782	64971782	G	A	1	0	0	0	0	0	0	0	1	3880	1020	36	3		3	CWC27	5	64971782	Silent	SNP	G	C3L-01889_TP	41444932	64971782	116566477	49	8157											
MAP1B	0	.	GRCh38	chr5	72107598	72107598	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgccaacccggcggcgTccacctcgcctagcctgtcg	5	6	11	19	6	0	0	0	0	0	0	4	0	1	0	6	2	2	1	6	2	2	1	novel		C3L-01889_TP	C3L-01889_NB	T	T																c.67T>G	p.Ser23Ala	p.S23A	ENST00000296755	1/7	214	172	42	166	165	1	strelka-varscan-mutect	MAP1B,missense_variant,p.Ser23Ala,ENST00000296755,NM_001324255.1,NM_005909.3;MAP1B,missense_variant,p.Ser23Ala,ENST00000511641,;MAP1B,missense_variant,p.Ser23Ala,ENST00000512974,;MAP1B,non_coding_transcript_exon_variant,,ENST00000504183,;MAP1B,missense_variant,p.Ser23Ala,ENST00000513526,;	G	ENST00000296755	Transcript	missense_variant	365/12036	67/7407	23/2468	S/A	Tcc/Gcc		1		1	MAP1B	HGNC	HGNC:6836	protein_coding	YES	CCDS4012.1	ENSP00000296755	P46821		UPI000013E382	NM_001324255.1,NM_005909.3	tolerated_low_confidence(0.37)		1/7		hmmpanther:PTHR13843:SF5,hmmpanther:PTHR13843																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	28	72107598	72107598	T	G	1	0	0	0	0	1	0	0	0	9151	1667	58	5		5	MAP1B	5	72107598	Missense_Mutation	SNP	T	C3L-01889_TP	7135816	72107598	109430661	50	8158											
VCAN	0	.	GRCh38	chr5	83541022	83541022	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctttcacttcacaactggGatccctgctcctagcacaga	9	10	8	14	0	2	1	2	0	0	1	4	2	4	2	2	2	3	3	2	2	2	3	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.8019G>T	p.=	p.G2673G	ENST00000265077	8/15	250	172	78	271	270	1	strelka-varscan-mutect	VCAN,synonymous_variant,p.=,ENST00000265077,NM_004385.4;VCAN,synonymous_variant,p.=,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	T	ENST00000265077	Transcript	synonymous_variant	8584/12625	8019/10191	2673/3396	G	ggG/ggT		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4			8/15		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	28	83541022	83541022	G	T	1	0	0	0	0	0	0	0	1	17683	1161	41	2		2	VCAN	5	83541022	Silent	SNP	G	C3L-01889_TP	11433424	83541022	97997237	51	8159											
PCSK1	0	.	GRCh38	chr5	96394971	96394971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggctgagaagaggtccCgtgcaaaatcagcttccagt	10	9	11	11	1	2	2	1	1	1	2	4	3	4	2	2	2	2	3	2	2	3	1			C3L-01889_TP	C3L-01889_NB	C	C																c.1777G>T	p.Gly593Trp	p.G593W	ENST00000311106	13/14	407	301	106	373	373	0	strelka-varscan-mutect	PCSK1,missense_variant,p.Gly593Trp,ENST00000311106,NM_000439.4;PCSK1,missense_variant,p.Gly546Trp,ENST00000508626,NM_001177875.1;CTD-2337A12.1,intron_variant,,ENST00000502645,;PCSK1,non_coding_transcript_exon_variant,,ENST00000513085,;	A	ENST00000311106	Transcript	missense_variant	2015/5086	1777/2262	593/753	G/W	Ggg/Tgg	CM971141	1		-1	PCSK1	HGNC	HGNC:8743	protein_coding	YES	CCDS4081.1	ENSP00000308024	P29120		UPI000013F0F5	NM_000439.4	deleterious(0)		13/14		hmmpanther:PTHR10795:SF407,hmmpanther:PTHR10795,Gene3D:2.60.120.260,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	28	96394971	96394971	C	A	1	0	0	0	0	1	0	0	0	11688	652	23	1		1	PCSK1	5	96394971	Missense_Mutation	SNP	C	C3L-01889_TP	12853949	96394971	85143288	52	8160											
HNRNPA0	0	.	GRCh38	chr5	137753737	137753737	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgatcaggtcgccctcAgccacgtctcctttaaggcc	6	10	9	16	3	3	0	2	0	1	0	6	1	3	0	4	2	2	1	4	2	1	2	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.330T>A	p.=	p.A110A	ENST00000314940	1/1	228	170	58	237	237	0	strelka-varscan-mutect	HNRNPA0,synonymous_variant,p.=,ENST00000314940,NM_006805.3;	T	ENST00000314940	Transcript	synonymous_variant	640/8726	330/918	110/305	A	gcT/gcA		1		-1	HNRNPA0	HGNC	HGNC:5030	protein_coding	YES	CCDS4193.1	ENSP00000316042	Q13151		UPI0000000C1D	NM_006805.3			1/1		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF492,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928																	LOW	1	SNV				1										PASS		rs899506386	.												T	2	4	28	137753737	137753737	A	T	1	0	0	0	0	0	0	0	1	7147	175	7	4		4	HNRNPA0	5	137753737	Silent	SNP	A	C3L-01889_TP	41358766	137753737	43784522	53	8161											
PCDHB9	0	.	GRCh38	chr5	141188797	141188797	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctactcgctgctgccgccCcaggacccacacctgcccct	6	6	7	22	2	0	0	0	0	0	0	1	1	0	1	8	1	4	2	8	1	1	1	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.1479C>A	p.=	p.P493P	ENST00000316105	1/1	493	336	157	438	438	0	strelka-varscan-mutect	PCDHB9,synonymous_variant,p.=,ENST00000316105,NM_019119.4;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.3;PCDHB16,downstream_gene_variant,,ENST00000625044,;PCDHB9,downstream_gene_variant,,ENST00000624909,;CH17-140K24.5,downstream_gene_variant,,ENST00000623884,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,upstream_gene_variant,,ENST00000624089,;CH17-140K24.6,downstream_gene_variant,,ENST00000625144,;PCDHB9,non_coding_transcript_exon_variant,,ENST00000623266,;CH17-140K24.5,downstream_gene_variant,,ENST00000623407,;	A	ENST00000316105	Transcript	synonymous_variant	1671/4415	1479/2394	493/797	P	ccC/ccA		1		1	PCDHB9	HGNC	HGNC:8694	protein_coding	YES	CCDS75328.1	ENSP00000478606	Q9Y5E1		UPI00005764A0	NM_019119.4			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF128,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW		SNV				1										PASS		rs1259803022	.												A	2	1	28	141188797	141188797	C	A	1	0	0	0	0	0	0	0	1	11636	610	22	2		2	PCDHB9	5	141188797	Silent	SNP	C	C3L-01889_TP	3435060	141188797	40349462	54	8162											
PANK3	0	.	GRCh38	chr5	168561392	168561392	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtgttttttgtttttttaCctcattaacagcacacattc	8	21	4	8	0	1	0	1	0	0	0	2	0	1	0	1	0	3	3	1	0	2	10			C3L-01889_TP	C3L-01889_NB	C	C																c.936+1G>A		p.X312_splice	ENST00000239231		49	43	6	42	42	0	varscan-mutect	PANK3,splice_donor_variant,,ENST00000239231,NM_024594.3;PANK3,downstream_gene_variant,,ENST00000522176,;MIR103A1,upstream_gene_variant,,ENST00000362165,;MIR103B1,downstream_gene_variant,,ENST00000636572,;PANK3,splice_donor_variant,,ENST00000520504,;	T	ENST00000239231	Transcript	splice_donor_variant	-/10506	936/1113	312/370			COSM1435884	1		-1	PANK3	HGNC	HGNC:19365	protein_coding	YES	CCDS4368.1	ENSP00000239231	Q9H999		UPI0000131D4D	NM_024594.3				5/6												1						HIGH	1	SNV	1		1	1										PASS		rs1414917096	.												T	5	4	28	168561392	168561392	C	T	1	0	0	0	0	0	0	1	0	11499	521	18	3		3	PANK3	5	168561392	Splice_Site	SNP	C	C3L-01889_TP	27372595	168561392	12976867	55	8163											
DOCK2	0	.	GRCh38	chr5	169803146	169803146	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcaacaccaggtcctggaGaggaagtactgcgttgaatt	12	9	12	8	1	0	2	0	1	0	1	1	4	1	3	2	3	4	3	2	3	4	3	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.2643G>C	p.Glu881Asp	p.E881D	ENST00000256935	26/52	155	109	46	184	184	0	strelka-varscan-mutect	DOCK2,missense_variant,p.Glu881Asp,ENST00000256935,NM_004946.2;DOCK2,missense_variant,p.Glu373Asp,ENST00000520908,;DOCK2,missense_variant,p.Glu261Asp,ENST00000540750,;DOCK2,missense_variant,p.Glu85Asp,ENST00000519628,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520181,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520836,;DOCK2,missense_variant,p.Glu881Asp,ENST00000524185,;	C	ENST00000256935	Transcript	missense_variant	2723/6097	2643/5493	881/1830	E/D	gaG/gaC		1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2	tolerated(0.51)		26/52		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	28	169803146	169803146	G	C	1	0	0	0	0	1	0	0	0	4502	933	33	4		4	DOCK2	5	169803146	Missense_Mutation	SNP	G	C3L-01889_TP	1241754	169803146	11735113	56	8164											
NEURL1B	0	.	GRCh38	chr5	172683931	172683931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacccagacgcgctgctcGaccgcaaagagtactgggtg	9	5	13	14	5	0	2	0	0	0	2	1	4	0	2	3	1	2	4	3	1	2	1	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.1090G>T	p.Asp364Tyr	p.D364Y	ENST00000369800	3/5	77	61	16	80	80	0	strelka-varscan-mutect	NEURL1B,missense_variant,p.Asp364Tyr,ENST00000369800,NM_001142651.1;NEURL1B,missense_variant,p.Asp182Tyr,ENST00000522853,;NEURL1B,intron_variant,,ENST00000520919,NM_001308178.1;	T	ENST00000369800	Transcript	missense_variant	1231/6424	1090/1668	364/555	D/Y	Gac/Tac		1		1	NEURL1B	HGNC	HGNC:35422	protein_coding	YES	CCDS47342.1	ENSP00000358815	A8MQ27		UPI0000D6E5EA	NM_001142651.1	deleterious(0)		3/5		PROSITE_profiles:PS51065,hmmpanther:PTHR12429,SMART_domains:SM00588																	MODERATE	1	SNV	1			1										PASS		rs1429888653	.												T	3	4	28	172683931	172683931	G	T	1	0	0	0	0	1	0	0	0	10381	1058	37	1		1	NEURL1B	5	172683931	Missense_Mutation	SNP	G	C3L-01889_TP	2880785	172683931	8854328	57	8165											
BNIP1	0	.	GRCh38	chr5	173158792	173158792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcacctgcaaaattgcaatCgacaatctagagaaagcaga	17	7	7	10	1	2	2	1	0	1	2	3	4	2	2	1	0	3	3	1	0	6	2	rs142359158		C3L-01889_TP	C3L-01889_NB	C	C																c.447C>G	p.Ile149Met	p.I149M	ENST00000231668	5/7	189	154	35	188	188	0	strelka-varscan-mutect	BNIP1,missense_variant,p.Ile149Met,ENST00000231668,NM_013979.2;BNIP1,missense_variant,p.Ile106Met,ENST00000351486,NM_001205.2;BNIP1,intron_variant,,ENST00000352523,NM_013980.2;BNIP1,intron_variant,,ENST00000393770,NM_013978.2;BNIP1,upstream_gene_variant,,ENST00000519459,;	G	ENST00000231668	Transcript	missense_variant	551/1339	447/816	149/271	I/M	atC/atG	rs142359158	1		1	BNIP1	HGNC	HGNC:1082	protein_coding	YES	CCDS4385.1	ENSP00000231668	Q12981		UPI000000D92A	NM_013979.2	tolerated(0.11)		5/7		hmmpanther:PTHR12825:SF1,hmmpanther:PTHR12825																	MODERATE	1	SNV	1			1										PASS		rs142359158	.												G	3	3	28	173158792	173158792	C	G	1	0	0	0	0	1	0	0	0	1632	874	31	4		4	BNIP1	5	173158792	Missense_Mutation	SNP	C	C3L-01889_TP	474861	173158792	8379467	58	8166											
UNC5A	0	.	GRCh38	chr5	176874029	176874029	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgccgtggccgtctgcctGgtcctgctgctgcttgtcct	1	13	12	15	3	1	0	0	0	1	0	4	0	3	0	5	2	4	3	5	2	0	1	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.948G>T	p.=	p.L316L	ENST00000329542	7/15	143	108	35	108	108	0	strelka-varscan-mutect	UNC5A,synonymous_variant,p.=,ENST00000329542,NM_133369.2;UNC5A,synonymous_variant,p.=,ENST00000509580,;UNC5A,3_prime_UTR_variant,,ENST00000513890,;	T	ENST00000329542	Transcript	synonymous_variant	1222/3812	948/2529	316/842	L	ctG/ctT		1		1	UNC5A	HGNC	HGNC:12567	protein_coding	YES	CCDS34299.1	ENSP00000332737	Q6ZN44		UPI0000047F37	NM_133369.2			7/15		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582																	LOW	1	SNV	1			1										PASS		rs1193491972	.												T	2	4	28	176874029	176874029	G	T	1	0	0	0	0	0	0	0	1	17515	1335	47	2		2	UNC5A	5	176874029	Silent	SNP	G	C3L-01889_TP	3715237	176874029	4664230	59	8167											
TAP2	0	.	GRCh38	chr6	32835202	32835202	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctattgtgaagggcatGtgcagcagagaaaggagggt	11	8	17	5	0	0	2	0	1	0	1	0	4	0	3	0	3	3	5	0	3	3	2	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.897C>G	p.His299Gln	p.H299Q	ENST00000374897	5/12	263	194	69	176	176	0	strelka-varscan	TAP2,missense_variant,p.His299Gln,ENST00000374897,NM_001290043.1;TAP2,missense_variant,p.His299Gln,ENST00000620123,NM_000544.3;XXbac-BPG246D15.9,missense_variant,p.His299Gln,ENST00000452392,;TAP2,missense_variant,p.His299Gln,ENST00000374899,NM_018833.2;TAP2,upstream_gene_variant,,ENST00000485701,;TAP2,upstream_gene_variant,,ENST00000464100,;	C	ENST00000374897	Transcript	missense_variant	1029/5684	897/2061	299/686	H/Q	caC/caG		1		-1	TAP2	HGNC	HGNC:44	protein_coding	YES	CCDS78129.1	ENSP00000364032	Q03519	Q5JNW1	UPI000011D578	NM_001290043.1	deleterious(0.02)		5/12		PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF237,hmmpanther:PTHR24221,Gene3D:2hydA01,Pfam_domain:PF00664,PIRSF_domain:PIRSF002773,TIGRFAM_domain:TIGR00958,Superfamily_domains:SSF90123																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	28	32835202	32835202	G	C	1	0	0	0	0	1	0	0	0	15950	1368	48	4		4	TAP2	6	32835202	Missense_Mutation	SNP	G	C3L-01889_TP		32835202	137970777	60	8168											
MAPK14	0	.	GRCh38	chr6	36075962	36075962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcattacaaccagacaGgtattactcgccttggttat	11	12	9	9	1	0	1	0	0	0	1	1	2	0	2	2	3	4	3	2	3	5	5	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.610G>T	p.Val204Phe	p.V204F	ENST00000229795	7/12	216	149	67	214	213	1	strelka-varscan	MAPK14,missense_variant,p.Val204Phe,ENST00000229795,NM_001315.2;MAPK14,missense_variant,p.Val204Phe,ENST00000229794,NM_139012.2;MAPK14,missense_variant,p.Val127Phe,ENST00000468133,;MAPK14,missense_variant,p.Val204Phe,ENST00000310795,NM_139014.2;MAPK14,missense_variant,p.Val127Phe,ENST00000472333,;MAPK14,downstream_gene_variant,,ENST00000622903,;MAPK14,splice_region_variant,,ENST00000491957,;MAPK14,splice_region_variant,,ENST00000496250,;MAPK14,splice_region_variant,,ENST00000474429,;MAPK14,splice_region_variant,,ENST00000490379,;	T	ENST00000229795	Transcript	missense_variant,splice_region_variant	1057/4319	610/1083	204/360	V/F	Gtt/Ttt		1		1	MAPK14	HGNC	HGNC:6876	protein_coding	YES	CCDS4815.1	ENSP00000229795	Q16539	L7RSM2	UPI000002AE13	NM_001315.2	deleterious(0)		7/12		PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF110,hmmpanther:PTHR24055,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	36075962	36075962	G	T	1	0	0	0	0	1	0	0	0	9200	1014	35	2		2	MAPK14	6	36075962	Missense_Mutation	SNP	G	C3L-01889_TP	3240760	36075962	134730017	61	8169											
CPNE5	0	.	GRCh38	chr6	36746500	36746500	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggatgatctctccgaCggcagtcagcgccagcgcgt	6	8	14	13	5	2	1	1	1	1	0	4	3	3	2	2	2	3	2	2	2	0	0	rs150078502		C3L-01889_TP	C3L-01889_NB	C	C																c.1096G>T	p.Val366Phe	p.V366F	ENST00000244751	16/21	202	144	58	189	189	0	strelka-varscan	CPNE5,missense_variant,p.Val366Phe,ENST00000244751,NM_020939.1;CPNE5,missense_variant,p.Val74Phe,ENST00000393189,NM_001314018.1,NM_001314020.1;CPNE5,non_coding_transcript_exon_variant,,ENST00000459703,;CPNE5,non_coding_transcript_exon_variant,,ENST00000633929,;CPNE5,non_coding_transcript_exon_variant,,ENST00000493411,;	A	ENST00000244751	Transcript	missense_variant	1721/3897	1096/1782	366/593	V/F	Gtc/Ttc	rs150078502	1		-1	CPNE5	HGNC	HGNC:2318	protein_coding	YES	CCDS4825.1	ENSP00000244751	Q9HCH3		UPI0000127C15	NM_020939.1	deleterious(0)		16/21		PROSITE_profiles:PS50234,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF51,Pfam_domain:PF07002,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	36746500	36746500	C	A	1	0	0	0	0	1	0	0	0	3610	536	19	1		1	CPNE5	6	36746500	Missense_Mutation	SNP	C	C3L-01889_TP	670538	36746500	134059479	62	8170											
RUNX2	0	.	GRCh38	chr6	45512308	45512308	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttacccctcctacctgAgccagatgacgtccccgtcc	7	9	7	18	2	1	3	0	2	1	1	4	3	4	3	8	0	3	0	8	0	2	2	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.922A>T	p.Ser308Cys	p.S308C	ENST00000371438	6/8	303	228	75	276	276	0	strelka-varscan	RUNX2,missense_variant,p.Ser308Cys,ENST00000371438,NM_001024630.3;RUNX2,missense_variant,p.Ser308Cys,ENST00000371432,NM_001015051.3;RUNX2,missense_variant,p.Ser294Cys,ENST00000359524,;RUNX2,missense_variant,p.Ser308Cys,ENST00000576263,;RUNX2,missense_variant,p.Ser308Cys,ENST00000465038,;RUNX2,missense_variant,p.Ser308Cys,ENST00000371436,;RUNX2,missense_variant,p.Ser294Cys,ENST00000625924,NM_001278478.1;RUNX2,missense_variant,p.Ser236Cys,ENST00000478660,;RUNX2,3_prime_UTR_variant,,ENST00000483377,;	T	ENST00000371438	Transcript	missense_variant	1280/5698	922/1566	308/521	S/C	Agc/Tgc		1		1	RUNX2	HGNC	HGNC:10472	protein_coding	YES	CCDS43467.2	ENSP00000360493	Q13950		UPI000013532F	NM_001024630.3	deleterious(0.02)		6/8		hmmpanther:PTHR11950:SF7,hmmpanther:PTHR11950,PIRSF_domain:PIRSF009374																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	28	45512308	45512308	A	T	1	0	0	0	0	1	0	0	0	14009	304	11	4		4	RUNX2	6	45512308	Missense_Mutation	SNP	A	C3L-01889_TP	8765808	45512308	125293671	63	8171											
ADGRB3	0	.	GRCh38	chr6	69239206	69239206	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcctcatactggttggaCagactcagacacataataag	15	10	7	9	0	2	2	2	0	0	2	3	3	3	3	1	2	1	1	1	2	4	5	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.2794C>G	p.Gln932Glu	p.Q932E	ENST00000370598	20/32	137	119	18	138	138	0	strelka-varscan	ADGRB3,missense_variant,p.Gln932Glu,ENST00000370598,NM_001704.2;ADGRB3,missense_variant,p.Gln932Glu,ENST00000546190,;ADGRB3,missense_variant,p.Gln138Glu,ENST00000238918,;ADGRB3,missense_variant,p.Gln62Glu,ENST00000604969,;ADGRB3,missense_variant,p.Gln116Glu,ENST00000603207,;	G	ENST00000370598	Transcript	missense_variant	3615/6010	2794/4569	932/1522	Q/E	Cag/Gag		1		1	ADGRB3	HGNC	HGNC:945	protein_coding	YES	CCDS4968.1	ENSP00000359630	O60242		UPI00001AE6A9	NM_001704.2	deleterious(0.02)		20/32		PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF40,Pfam_domain:PF00002																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	28	69239206	69239206	C	G	1	0	0	0	0	1	0	0	0	357	479	17	4		4	ADGRB3	6	69239206	Missense_Mutation	SNP	C	C3L-01889_TP	23726898	69239206	101566773	64	8172											
GRIK2	0	.	GRCh38	chr6	101928580	101928580	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatgatttagctaaacaaaCcaagatagaatatggagcag	18	9	9	5	0	0	4	0	2	0	2	0	5	0	5	1	1	4	2	1	1	8	5	rs763591971		C3L-01889_TP	C3L-01889_NB	C	C																c.2033C>A	p.Thr678Asn	p.T678N	ENST00000421544	13/16	241	188	53	286	286	0	strelka-varscan	GRIK2,missense_variant,p.Thr678Asn,ENST00000369138,NM_001166247.1;GRIK2,missense_variant,p.Thr678Asn,ENST00000413795,NM_175768.3;GRIK2,missense_variant,p.Thr678Asn,ENST00000421544,NM_021956.4;GRIK2,missense_variant,p.Thr640Asn,ENST00000318991,;GRIK2,missense_variant,p.Thr640Asn,ENST00000369137,;GRIK2,missense_variant,p.Thr640Asn,ENST00000369134,;GRIK2,non_coding_transcript_exon_variant,,ENST00000487395,;GRIK2,non_coding_transcript_exon_variant,,ENST00000487161,;	A	ENST00000421544	Transcript	missense_variant	2523/4789	2033/2727	678/908	T/N	aCc/aAc	rs763591971	1		1	GRIK2	HGNC	HGNC:4580	protein_coding	YES	CCDS5048.1	ENSP00000397026	Q13002		UPI000012B617	NM_021956.4	deleterious(0.02)		13/16		Gene3D:1.10.287.70,Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,SMART_domains:SM00079,Superfamily_domains:SSF53850																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	101928580	101928580	C	A	1	0	0	0	0	1	0	0	0	6656	507	18	2		2	GRIK2	6	101928580	Missense_Mutation	SNP	C	C3L-01889_TP	32689374	101928580	68877399	65	8173											
DDO	0	.	GRCh38	chr6	110392864	110392864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcagtgccccagtgcaCtgagatgcccccactcccat	9	6	9	17	0	0	2	0	1	0	2	1	3	1	2	5	0	4	2	5	0	0	0			C3L-01889_TP	C3L-01889_NB	C	C																c.1021G>T	p.Val341Leu	p.V341L	ENST00000368924	5/5	102	71	31	82	82	0	strelka-varscan	DDO,missense_variant,p.Val341Leu,ENST00000368924,NM_003649.2;DDO,missense_variant,p.Val282Leu,ENST00000368923,NM_004032.2;DDO,3_prime_UTR_variant,,ENST00000479373,;	A	ENST00000368924	Transcript	missense_variant	1037/2130	1021/1110	341/369	V/L	Gtg/Ttg	COSM2155895	1		-1	DDO	HGNC	HGNC:2727	protein_coding	YES	CCDS5082.1	ENSP00000357920	Q99489		UPI000006D9AB	NM_003649.2	tolerated(0.33)		5/5		hmmpanther:PTHR11530:SF12,hmmpanther:PTHR11530,PROSITE_patterns:PS00677,Gene3D:3.50.50.60,PIRSF_domain:PIRSF000189,Pfam_domain:PF01266,Superfamily_domains:SSF51971											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	28	110392864	110392864	C	A	1	0	0	0	0	1	0	0	0	4138	565	20	2		2	DDO	6	110392864	Missense_Mutation	SNP	C	C3L-01889_TP	8464284	110392864	60413115	66	8174											
LAMA2	0	.	GRCh38	chr6	129438697	129438697	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggatagaaaatgctgatgCtagaaatggggatctcttga	14	10	12	5	0	1	4	0	2	1	2	2	6	1	6	0	3	2	2	0	3	5	3	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.6020C>A	p.Ala2007Asp	p.A2007D	ENST00000421865	42/65	277	212	65	304	304	0	strelka-varscan	LAMA2,missense_variant,p.Ala2007Asp,ENST00000618192,;LAMA2,missense_variant,p.Ala2007Asp,ENST00000617695,;LAMA2,missense_variant,p.Ala2007Asp,ENST00000421865,NM_001079823.1,NM_000426.3;RNU6-861P,upstream_gene_variant,,ENST00000516745,;	A	ENST00000421865	Transcript	missense_variant	6069/9640	6020/9369	2007/3122	A/D	gCt/gAt		1		1	LAMA2	HGNC	HGNC:6482	protein_coding	YES	CCDS5138.1	ENSP00000400365	P24043		UPI00003673E0	NM_001079823.1,NM_000426.3	tolerated(0.45)		42/65		Coiled-coils_(Ncoils):Coil,PD936484,Superfamily_domains:SSF58104																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	28	129438697	129438697	C	A	1	0	0	0	0	1	0	0	0	8510	797	28	2		2	LAMA2	6	129438697	Missense_Mutation	SNP	C	C3L-01889_TP	19045833	129438697	41367282	67	8175											
STX11	0	.	GRCh38	chr6	144187256	144187256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaacgagatcgagagccGccaccgcgaactgctgcgcc	9	4	11	17	6	1	2	1	0	0	2	2	5	1	2	5	0	5	1	5	0	2	0	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.629G>A	p.Arg210His	p.R210H	ENST00000367568	2/2	207	184	23	210	210	0	strelka-varscan	STX11,missense_variant,p.Arg210His,ENST00000367568,NM_003764.3;	A	ENST00000367568	Transcript	missense_variant	812/1926	629/864	210/287	R/H	cGc/cAc		1		1	STX11	HGNC	HGNC:11429	protein_coding	YES	CCDS5205.1	ENSP00000356540	O75558		UPI0000001C25	NM_003764.3	deleterious(0)		2/2		Gene3D:1.20.58.70,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00804,PROSITE_patterns:PS00914,PROSITE_profiles:PS50192,hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF30,Low_complexity_(Seg):seg,SMART_domains:SM00397,Superfamily_domains:SSF47661																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	144187256	144187256	G	A	1	0	0	0	0	1	0	0	0	15721	1087	38	1		1	STX11	6	144187256	Missense_Mutation	SNP	G	C3L-01889_TP	14748559	144187256	26618723	68	8176											
ADGB	0	.	GRCh38	chr6	146788488	146788488	+	Frame_Shift_Del	DEL	G	G	-																															aggatcagggagtgcggtgtGgaagaagtggcaattgacca																								novel		C3L-01889_TP	C3L-01889_NB	G	G																c.4416delG	p.Trp1472Ter	p.W1472*	ENST00000397944	33/36	324	241	83	389	389	0	sindel-varindel-pindel	ADGB,frameshift_variant,p.Trp1472Ter,ENST00000397944,NM_024694.3;ADGB,frameshift_variant,p.Trp430Ter,ENST00000367490,;ADGB,frameshift_variant,p.Trp195Ter,ENST00000326916,;ADGB,frameshift_variant,p.Trp136Ter,ENST00000470716,;ADGB,downstream_gene_variant,,ENST00000523560,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,3_prime_UTR_variant,,ENST00000480328,;	-	ENST00000397944	Transcript	frameshift_variant	4491/5325	4415/5004	1472/1667	W/X	tGg/tg		1		1	ADGB	HGNC	HGNC:21212	protein_coding	YES		ENSP00000381036	Q8N7X0		UPI000020E382	NM_024694.3			33/36																			HIGH	1	deletion	5	1		1										PASS		.	.												-	7	5	28	146788488	146788488	G	-	1	0	1	0	1	0	0	0	0	351	1357	47	0		0	ADGB	6	146788488	Frame_Shift_Del	DEL	G	C3L-01889_TP	2601232	146788488	24017491	69	8177											
MAD1L1	0	.	GRCh38	chr7	2230027	2230027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcagagaacctggggccGaggtagaaatatccagtcca	12	7	12	10	1	1	2	0	0	1	2	3	4	3	2	4	3	2	2	4	3	4	2	rs776910007		C3L-01889_TP	C3L-01889_NB	G	G																c.107C>T	p.Ser36Leu	p.S36L	ENST00000406869	3/19	175	139	36	152	152	0	strelka-varscan-mutect	MAD1L1,missense_variant,p.Ser36Leu,ENST00000406869,;MAD1L1,missense_variant,p.Ser36Leu,ENST00000399654,NM_001013836.1,NM_003550.2,NM_001013837.1,NM_001304523.1;MAD1L1,missense_variant,p.Ser36Leu,ENST00000265854,;MAD1L1,missense_variant,p.Ser36Leu,ENST00000455998,;MAD1L1,missense_variant,p.Ser36Leu,ENST00000429779,;MAD1L1,intron_variant,,ENST00000402746,NM_001304524.1;MRM2,downstream_gene_variant,,ENST00000242257,NM_013393.1;MRM2,downstream_gene_variant,,ENST00000440306,;MAD1L1,upstream_gene_variant,,ENST00000429625,;MRM2,downstream_gene_variant,,ENST00000486040,;MRM2,downstream_gene_variant,,ENST00000467199,;	A	ENST00000406869	Transcript	missense_variant	665/2991	107/2157	36/718	S/L	tCg/tTg	rs776910007,COSM1450018	1		-1	MAD1L1	HGNC	HGNC:6762	protein_coding	YES	CCDS43539.1	ENSP00000385334	Q9Y6D9		UPI0000072C4D		deleterious(0.03)		3/19		hmmpanther:PTHR23168:SF0,hmmpanther:PTHR23168											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs776910007	.												A	3	1	28	2230027	2230027	G	A	1	0	0	0	0	1	0	0	0	9063	1059	37	1		1	MAD1L1	7	2230027	Missense_Mutation	SNP	G	C3L-01889_TP		2230027	157115946	70	8178											
CCDC129	0	.	GRCh38	chr7	31651937	31651937	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttctattatttacttgcAgggaggaggccgagcaactg	10	13	11	7	1	1	0	0	0	1	0	1	3	1	2	1	3	4	2	1	3	4	7	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.2790-2A>T		p.X930_splice	ENST00000451887		135	94	41	121	121	0	strelka-varscan-mutect	CCDC129,splice_acceptor_variant,,ENST00000319386,;CCDC129,splice_acceptor_variant,,ENST00000615280,NM_001257967.1;CCDC129,splice_acceptor_variant,,ENST00000409210,;CCDC129,splice_acceptor_variant,,ENST00000451887,NM_001257968.1;CCDC129,splice_acceptor_variant,,ENST00000407970,NM_194300.3;CCDC129,upstream_gene_variant,,ENST00000463693,;	T	ENST00000451887	Transcript	splice_acceptor_variant	-/3611	2790/3189	930/1062				1		1	CCDC129	HGNC	HGNC:27363	protein_coding	YES	CCDS59050.1	ENSP00000395835	Q6ZRS4		UPI00020655D9	NM_001257968.1				12/14																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	28	31651937	31651937	A	T	1	0	0	0	0	0	0	1	0	2456	202	7	4		4	CCDC129	7	31651937	Splice_Site	SNP	A	C3L-01889_TP	29421910	31651937	127694036	71	8179											
NPC1L1	0	.	GRCh38	chr7	44539200	44539200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaagaaggggccgaaatgCtggtcatggaaagctttctc	11	8	14	8	2	2	1	1	0	1	1	3	4	2	3	1	5	2	2	1	5	4	1	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.1197G>A	p.=	p.Q399Q	ENST00000289547	2/20	454	417	37	394	394	0	strelka-varscan-mutect	NPC1L1,synonymous_variant,p.=,ENST00000289547,NM_013389.2;NPC1L1,synonymous_variant,p.=,ENST00000546276,;NPC1L1,synonymous_variant,p.=,ENST00000381160,NM_001101648.1;NPC1L1,synonymous_variant,p.=,ENST00000423141,NM_001300967.1;	T	ENST00000289547	Transcript	synonymous_variant	1253/5048	1197/4080	399/1359	Q	caG/caA		1		-1	NPC1L1	HGNC	HGNC:7898	protein_coding	YES	CCDS5491.1	ENSP00000289547	Q9UHC9		UPI000013DF88	NM_013389.2			2/20		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	28	44539200	44539200	C	T	1	0	0	0	0	0	0	0	1	10619	796	28	3		3	NPC1L1	7	44539200	Silent	SNP	C	C3L-01889_TP	12887263	44539200	114806773	72	8180											
NPC1L1	0	.	GRCh38	chr7	44541239	44541239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggcccacagcagccagccCctcaggccggcctccgccat	7	3	11	20	2	1	0	1	0	0	0	2	0	2	0	8	3	3	1	8	3	0	0	rs751337767		C3L-01889_TP	C3L-01889_NB	C	C																c.21G>T	p.Arg7Ser	p.R7S	ENST00000289547	1/20	121	91	30	99	99	0	strelka-varscan-mutect	NPC1L1,missense_variant,p.Arg7Ser,ENST00000289547,NM_013389.2;NPC1L1,missense_variant,p.Arg7Ser,ENST00000546276,;NPC1L1,missense_variant,p.Arg7Ser,ENST00000381160,NM_001101648.1;NPC1L1,missense_variant,p.Arg7Ser,ENST00000423141,NM_001300967.1;	A	ENST00000289547	Transcript	missense_variant	77/5048	21/4080	7/1359	R/S	agG/agT	rs751337767	1		-1	NPC1L1	HGNC	HGNC:7898	protein_coding	YES	CCDS5491.1	ENSP00000289547	Q9UHC9		UPI000013DF88	NM_013389.2	deleterious_low_confidence(0.01)		1/20		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89																	MODERATE	1	SNV	1			1										PASS		rs751337767	.												A	3	1	28	44541239	44541239	C	A	1	0	0	0	0	1	0	0	0	10619	622	22	2		2	NPC1L1	7	44541239	Missense_Mutation	SNP	C	C3L-01889_TP	2039	44541239	114804734	73	8181											
ZNF679	0	.	GRCh38	chr7	64266285	64266285	+	Frame_Shift_Del	DEL	G	G	-																															cctaccaatgtgaagaatgcGgcaaacccttcaactgctct																								rs779462779		C3L-01889_TP	C3L-01889_NB	G	G																c.653delG	p.Gly218AlafsTer127	p.G218Afs*127	ENST00000421025	5/5	122	87	35	146	146	0	sindel-varindel-pindel	ZNF679,frameshift_variant,p.Gly218AlafsTer127,ENST00000421025,NM_153363.2;ZNF679,frameshift_variant,p.Gly218AlafsTer127,ENST00000255746,;	-	ENST00000421025	Transcript	frameshift_variant	921/1567	652/1236	218/411	G/X	Ggc/gc	rs779462779	1		1	ZNF679	HGNC	HGNC:28650	protein_coding	YES	CCDS47592.1	ENSP00000416809	Q8IYX0		UPI000045756A	NM_153363.2			5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF91,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF13894,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	28	64266285	64266285	G	-	1	0	1	0	1	0	0	0	0	18659	1116	39	0		0	ZNF679	7	64266285	Frame_Shift_Del	DEL	G	C3L-01889_TP	19725046	64266285	95079688	74	8182											
FZD1	0	.	GRCh38	chr7	91265684	91265684	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccggggggcgccggcgcGtcggagcgaggcaagttctc	4	6	18	13	7	1	0	0	0	1	0	4	2	2	1	2	6	1	2	2	6	1	2	rs780354235		C3L-01889_TP	C3L-01889_NB	G	G																c.804G>A	p.=	p.A268A	ENST00000287934	1/1	63	47	16	69	69	0	strelka-varscan-mutect	FZD1,synonymous_variant,p.=,ENST00000287934,NM_003505.1;	A	ENST00000287934	Transcript	synonymous_variant	1321/6963	804/1944	268/647	A	gcG/gcA	rs780354235	1		1	FZD1	HGNC	HGNC:4038	protein_coding	YES	CCDS5620.1	ENSP00000287934	Q9UP38		UPI000005104D	NM_003505.1			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF81																	LOW	1	SNV				1										PASS		rs780354235	.												A	2	1	28	91265684	91265684	G	A	1	0	0	0	0	0	0	0	1	5999	1132	40	1		1	FZD1	7	91265684	Silent	SNP	G	C3L-01889_TP	26999399	91265684	68080289	75	8183											
ZSCAN21	0	.	GRCh38	chr7	100057379	100057379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcctcgaagatctggagCgggaactggatgagccagga	10	7	14	10	2	2	2	0	1	2	1	4	7	2	6	2	4	3	0	2	4	2	0	rs373816425		C3L-01889_TP	C3L-01889_NB	C	C																c.373C>T	p.Arg125Trp	p.R125W	ENST00000292450	2/4	45	31	14	51	51	0	strelka-varscan-mutect	ZSCAN21,missense_variant,p.Arg125Trp,ENST00000292450,NM_145914.2;ZSCAN21,missense_variant,p.Arg125Trp,ENST00000456748,;ZSCAN21,missense_variant,p.Arg125Trp,ENST00000438937,;ZSCAN21,intron_variant,,ENST00000543588,;ZSCAN21,non_coding_transcript_exon_variant,,ENST00000477297,;	T	ENST00000292450	Transcript	missense_variant	537/2005	373/1422	125/473	R/W	Cgg/Tgg	rs373816425,COSM73507	1		1	ZSCAN21	HGNC	HGNC:13104	protein_coding	YES	CCDS5681.1	ENSP00000292450	Q9Y5A6		UPI000000DBCC	NM_145914.2	deleterious(0)		2/4		Low_complexity_(Seg):seg,PROSITE_profiles:PS50804,hmmpanther:PTHR23226:SF10,hmmpanther:PTHR23226,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs373816425	.												T	3	4	28	100057379	100057379	C	T	1	0	0	0	0	1	0	0	0	18827	759	27	1		1	ZSCAN21	7	100057379	Missense_Mutation	SNP	C	C3L-01889_TP	8791695	100057379	59288594	76	8184											
MUC3A	0	.	GRCh38	chr7	100957895	100957895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccgagaccacatcccataGtactcccagcttcacttctt	10	10	4	17	1	2	1	1	0	1	1	4	2	4	1	4	0	2	2	4	0	2	5	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.6116G>A	p.Ser2039Asn	p.S2039N	ENST00000379458	2/12	134	127	7	181	179	2	varscan-mutect	MUC3A,missense_variant,p.Ser2039Asn,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Ser2039Asn,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,;	A	ENST00000379458	Transcript	missense_variant	6186/11226	6116/9972	2039/3323	S/N	aGt/aAt		1		1	MUC3A	HGNC	HGNC:7513	protein_coding	YES	CCDS78262.1	ENSP00000368771	Q02505		UPI000455B941	NM_005960.1	deleterious_low_confidence(0.01)		2/12		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	28	100957895	100957895	G	A	1	0	0	0	0	1	0	0	0	9976	1029	36	3		3	MUC3A	7	100957895	Missense_Mutation	SNP	G	C3L-01889_TP	900516	100957895	58388078	77	8185											
MUC17	0	.	GRCh38	chr7	101037205	101037205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggcctccattaacaaGtatacctgtcagcaccacaa	15	7	7	12	0	1	0	1	0	0	0	2	1	2	1	4	2	3	2	4	2	6	3	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.5789G>T	p.Ser1930Ile	p.S1930I	ENST00000306151	3/13	63	44	19	91	91	0	strelka-varscan-mutect	MUC17,missense_variant,p.Ser1930Ile,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ser1930Ile,ENST00000379439,;	T	ENST00000306151	Transcript	missense_variant	5853/14247	5789/13482	1930/4493	S/I	aGt/aTt		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	tolerated(0.06)		3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		rs1252236878	.												T	3	4	28	101037205	101037205	G	T	1	0	0	0	0	1	0	0	0	9973	1029	36	2		2	MUC17	7	101037205	Missense_Mutation	SNP	G	C3L-01889_TP	79310	101037205	58308768	78	8186											
KMT2E	0	.	GRCh38	chr7	105105451	105105451	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctagcacttggttaatGaatggttaagtgagaagaat	13	14	10	4	0	1	3	0	2	1	2	2	4	1	3	0	2	1	3	0	2	6	5	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.2209G>T	p.Glu737Ter	p.E737*	ENST00000311117	18/27	86	63	23	111	111	0	strelka-varscan-mutect	KMT2E,stop_gained,p.Glu737Ter,ENST00000311117,NM_182931.2;KMT2E,stop_gained,p.Glu737Ter,ENST00000257745,NM_018682.3;KMT2E,downstream_gene_variant,,ENST00000622386,;KMT2E,downstream_gene_variant,,ENST00000479838,;KMT2E,upstream_gene_variant,,ENST00000473063,;CTB-152G17.6,non_coding_transcript_exon_variant,,ENST00000607968,;KMT2E,stop_gained,p.Glu737Ter,ENST00000334884,;KMT2E,upstream_gene_variant,,ENST00000478079,;	T	ENST00000311117	Transcript	stop_gained	2754/6874	2209/5577	737/1858	E/*	Gaa/Taa		1		1	KMT2E	HGNC	HGNC:18541	protein_coding	YES	CCDS34723.1	ENSP00000312379	Q8IZD2		UPI0000074133	NM_182931.2			18/27																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	28	105105451	105105451	G	T	1	0	0	0	0	0	1	0	0	8299	1291	45	2		2	KMT2E	7	105105451	Nonsense_Mutation	SNP	G	C3L-01889_TP	4068246	105105451	54240522	79	8187											
GRM8	0	.	GRCh38	chr7	126533130	126533130	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatactgtatccaagtgaaCaaatgagtgagagatcagaa	17	8	11	5	0	1	5	1	3	0	2	2	7	2	6	1	1	2	1	1	1	6	2	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.2252G>T	p.Cys751Phe	p.C751F	ENST00000339582	9/11	124	89	35	137	137	0	strelka-varscan	GRM8,missense_variant,p.Cys751Phe,ENST00000339582,NM_000845.2;GRM8,missense_variant,p.Cys751Phe,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Cys259Phe,ENST00000444921,;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,missense_variant,p.Cys751Phe,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	A	ENST00000339582	Transcript	missense_variant	3061/4057	2252/2727	751/908	C/F	tGt/tTt		1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2	tolerated(0.35)		9/11		Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	28	126533130	126533130	C	A	1	0	0	0	0	1	0	0	0	6685	478	17	2		2	GRM8	7	126533130	Missense_Mutation	SNP	C	C3L-01889_TP	21427679	126533130	32812843	80	8188											
LRGUK	0	.	GRCh38	chr7	134249038	134249038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttgatctttgtgaagaCtattttaaacctccatttgg	10	18	7	6	0	1	3	0	2	1	1	2	3	2	3	2	1	1	1	2	1	4	7	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.2160C>A	p.Asp720Glu	p.D720E	ENST00000285928	18/20	42	27	15	51	51	0	strelka-varscan-mutect	LRGUK,missense_variant,p.Asp720Glu,ENST00000285928,NM_144648.1;	A	ENST00000285928	Transcript	missense_variant	2229/3163	2160/2478	720/825	D/E	gaC/gaA		1		1	LRGUK	HGNC	HGNC:21964	protein_coding	YES	CCDS5830.1	ENSP00000285928	Q96M69		UPI0000072C76	NM_144648.1	tolerated(0.16)		18/20																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	134249038	134249038	C	A	1	0	0	0	0	1	0	0	0	8837	564	20	2		2	LRGUK	7	134249038	Missense_Mutation	SNP	C	C3L-01889_TP	7715908	134249038	25096935	81	8189											
CHRM2	0	.	GRCh38	chr7	137015374	137015374	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcattgtaggggtgagaaCtgtggaggatggggagtgct	8	11	19	3	0	1	1	1	1	0	1	1	5	1	4	0	6	2	3	0	6	2	3			C3L-01889_TP	C3L-01889_NB	C	C																c.509C>G	p.Thr170Ser	p.T170S	ENST00000445907	3/3	286	208	78	338	338	0	strelka-varscan-mutect	CHRM2,missense_variant,p.Thr170Ser,ENST00000445907,NM_001006630.1,NM_001006627.1;CHRM2,missense_variant,p.Thr170Ser,ENST00000401861,NM_000739.2,NM_001006626.1,NM_001006628.1;CHRM2,missense_variant,p.Thr170Ser,ENST00000453373,NM_001006631.1,NM_001006629.1;CHRM2,missense_variant,p.Thr170Ser,ENST00000320658,NM_001006632.1;AC009264.1,intron_variant,,ENST00000439694,;AC009264.1,intron_variant,,ENST00000425981,;AC009264.1,intron_variant,,ENST00000586239,;AC009264.1,intron_variant,,ENST00000597642,;AC009264.1,intron_variant,,ENST00000598184,;AC009264.1,intron_variant,,ENST00000593789,;AC009264.1,intron_variant,,ENST00000592183,;	G	ENST00000445907	Transcript	missense_variant	1037/5918	509/1401	170/466	T/S	aCt/aGt	COSM4497973	1		1	CHRM2	HGNC	HGNC:1951	protein_coding	YES	CCDS5843.1	ENSP00000399745	P08172	A4D1Q0	UPI0000050410	NM_001006630.1,NM_001006627.1	deleterious(0)		3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00243,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF57,SMART_domains:SM01381,Superfamily_domains:SSF81321											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	28	137015374	137015374	C	G	1	0	0	0	0	1	0	0	0	3137	565	20	4		4	CHRM2	7	137015374	Missense_Mutation	SNP	C	C3L-01889_TP	2766336	137015374	22330599	82	8190											
BRAF	0	.	GRCh38	chr7	140753393	140753393	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttcatgaagaaatataTctgaggtgtagtaagtaaag	15	12	11	3	0	3	3	1	2	2	1	3	3	3	3	0	2	0	3	0	2	8	6	rs121913370		C3L-01889_TP	C3L-01889_NB	T	T																c.1742A>G	p.Asn581Ser	p.N581S	ENST00000288602	15/18	274	182	92	287	287	0	strelka-varscan-mutect	BRAF,missense_variant,p.Asn189Ser,ENST00000496384,;BRAF,missense_variant,p.Asn581Ser,ENST00000288602,NM_004333.4;BRAF,missense_variant,p.Asn9Ser,ENST00000479537,;BRAF,splice_region_variant,,ENST00000497784,;	C	ENST00000288602	Transcript	missense_variant,splice_region_variant	1803/2480	1742/2301	581/766	N/S	aAt/aGt	rs121913370,COSM1699452,COSM26460,COSM462	1		-1	BRAF	HGNC	HGNC:1097	protein_coding	YES	CCDS5863.1	ENSP00000288602	P15056		UPI000013DF26	NM_004333.4	deleterious(0.04)		15/18		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_patterns:PS00108,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF43,SMART_domains:SM00220,Superfamily_domains:SSF56112										likely_pathogenic	0,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs121913370	.												C	3	2	28	140753393	140753393	T	C	1	0	0	0	0	1	0	0	0	1665	1449	50	5		5	BRAF	7	140753393	Missense_Mutation	SNP	T	C3L-01889_TP	3738019	140753393	18592580	83	8191											
KEL	0	.	GRCh38	chr7	142942488	142942488	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaggtccaggctgggcagGacagtctccccatggtgccg	6	7	15	13	1	1	1	0	1	1	0	3	2	2	2	4	5	1	2	4	5	0	0	rs769151837		C3L-01889_TP	C3L-01889_NB	G	G																c.1983C>A	p.=	p.V661V	ENST00000355265	18/19	311	235	76	282	281	1	strelka-varscan-mutect	KEL,synonymous_variant,p.=,ENST00000355265,NM_000420.2;C7orf34,downstream_gene_variant,,ENST00000409607,NM_178829.4;C7orf34,downstream_gene_variant,,ENST00000458732,;KEL,downstream_gene_variant,,ENST00000479768,;KEL,non_coding_transcript_exon_variant,,ENST00000470850,;KEL,non_coding_transcript_exon_variant,,ENST00000478969,;KEL,downstream_gene_variant,,ENST00000465697,;	T	ENST00000355265	Transcript	synonymous_variant	2458/2812	1983/2199	661/732	V	gtC/gtA	rs769151837	1		-1	KEL	HGNC	HGNC:6308	protein_coding	YES	CCDS34766.1	ENSP00000347409	P23276	A0A077QP03	UPI000000D923	NM_000420.2			18/19		hmmpanther:PTHR11733:SF128,hmmpanther:PTHR11733,Pfam_domain:PF01431,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		rs769151837	.												T	2	4	28	142942488	142942488	G	T	1	0	0	0	0	0	0	0	1	8062	1161	41	2		2	KEL	7	142942488	Silent	SNP	G	C3L-01889_TP	2189095	142942488	16403485	84	8192											
OR6V1	0	.	GRCh38	chr7	143053182	143053182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgacttcagttctcacccCctttctcaatccctttatcc	6	15	4	16	0	3	1	3	1	2	0	7	1	5	1	4	1	0	1	4	1	2	5	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.842C>A	p.Pro281His	p.P281H	ENST00000418316	1/1	237	184	53	213	213	0	strelka-varscan-mutect	OR6V1,missense_variant,p.Pro281His,ENST00000418316,NM_001001667.1;	A	ENST00000418316	Transcript	missense_variant	863/1028	842/942	281/313	P/H	cCc/cAc		1		1	OR6V1	HGNC	HGNC:15090	protein_coding	YES	CCDS47728.1	ENSP00000396085	Q8N148	A0A126GWQ4	UPI0000041C19	NM_001001667.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF10,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	28	143053182	143053182	C	A	1	0	0	0	0	1	0	0	0	11281	623	22	2		2	OR6V1	7	143053182	Missense_Mutation	SNP	C	C3L-01889_TP	110694	143053182	16292791	85	8193											
OR2F2	0	.	GRCh38	chr7	143935687	143935687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcacatcctgggtcagtgGctccatcaactctcttgtgc	7	12	8	14	0	4	0	3	0	1	0	7	0	6	0	2	2	2	1	2	2	1	1	rs759869818		C3L-01889_TP	C3L-01889_NB	G	G																c.455G>T	p.Gly152Val	p.G152V	ENST00000408955	1/1	175	134	41	212	212	0	strelka-varscan-mutect	OR2F2,missense_variant,p.Gly152Val,ENST00000408955,NM_001004685.1;	T	ENST00000408955	Transcript	missense_variant	522/1114	455/954	152/317	G/V	gGc/gTc	rs759869818	1		1	OR2F2	HGNC	HGNC:8247	protein_coding	YES	CCDS43666.1	ENSP00000386222	O95006		UPI0000041C25	NM_001004685.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF63,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs759869818	.												T	3	4	28	143935687	143935687	G	T	1	0	0	0	0	1	0	0	0	11075	1203	42	2		2	OR2F2	7	143935687	Missense_Mutation	SNP	G	C3L-01889_TP	882505	143935687	15410286	86	8194											
CNTNAP2	0	.	GRCh38	chr7	147903695	147903695	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagatcccaagtactactgTaactgcgacgcggactacaa	14	7	8	12	3	0	1	0	0	0	1	1	3	1	2	1	1	5	2	1	1	6	4	novel		C3L-01889_TP	C3L-01889_NB	T	T																c.2229T>A	p.Cys743Ter	p.C743*	ENST00000361727	14/24	396	283	113	387	387	0	strelka-varscan-mutect	CNTNAP2,stop_gained,p.Cys743Ter,ENST00000361727,NM_014141.5;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000627772,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637825,;CNTNAP2,downstream_gene_variant,,ENST00000636755,;CNTNAP2,downstream_gene_variant,,ENST00000637654,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000455301,;	A	ENST00000361727	Transcript	stop_gained	2747/9896	2229/3996	743/1331	C/*	tgT/tgA		1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5			14/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644																	HIGH	1	SNV	1			1										PASS		rs929257551	.												A	4	1	28	147903695	147903695	T	A	1	0	0	0	0	0	1	0	0	3428	1644	57	4		4	CNTNAP2	7	147903695	Nonsense_Mutation	SNP	T	C3L-01889_TP	3968008	147903695	11442278	87	8195											
MYOM2	0	.	GRCh38	chr8	2116068	2116068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagattcatgatgggaaaGccaaaagtcagtcttctcta	13	11	9	8	0	4	2	2	1	2	1	5	3	4	3	1	1	2	1	1	1	4	3	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.3289G>T	p.Ala1097Ser	p.A1097S	ENST00000262113	26/37	164	135	29	156	153	3	strelka-varscan-mutect	MYOM2,missense_variant,p.Ala1097Ser,ENST00000262113,NM_003970.3;MYOM2,missense_variant,p.Ala522Ser,ENST00000523438,;MYOM2,upstream_gene_variant,,ENST00000520072,;MYOM2,upstream_gene_variant,,ENST00000519631,;MYOM2,non_coding_transcript_exon_variant,,ENST00000523443,;	T	ENST00000262113	Transcript	missense_variant	3430/5014	3289/4398	1097/1465	A/S	Gcc/Tcc		1		1	MYOM2	HGNC	HGNC:7614	protein_coding	YES	CCDS5957.1	ENSP00000262113	P54296		UPI000442D01B	NM_003970.3	deleterious(0)		26/37																			MODERATE	1	SNV	1			1										PASS		rs1411394617	.												T	3	4	28	2116068	2116068	G	T	1	0	0	0	0	1	0	0	0	10093	971	34	2		2	MYOM2	8	2116068	Missense_Mutation	SNP	G	C3L-01889_TP		2116068	143022568	88	8196											
PXDNL	0	.	GRCh38	chr8	51409187	51409187	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcactgtgtggtccaagtCgtgctctagaaaccagcccc	9	8	11	13	1	1	1	0	0	1	1	3	1	2	1	4	2	3	2	4	2	3	1	rs866469976		C3L-01889_TP	C3L-01889_NB	C	C																c.2437G>T	p.Asp813Tyr	p.D813Y	ENST00000356297	17/23	124	88	36	122	122	0	strelka-varscan-mutect	PXDNL,missense_variant,p.Asp813Tyr,ENST00000356297,NM_144651.4;PXDNL,upstream_gene_variant,,ENST00000522933,;PXDNL,missense_variant,p.Asp79Tyr,ENST00000522628,;	A	ENST00000356297	Transcript	missense_variant	2538/4805	2437/4392	813/1463	D/Y	Gac/Tac	rs866469976	1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4	deleterious(0)		17/23		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457																	MODERATE	1	SNV	1			1										PASS		rs866469976	.												A	3	1	28	51409187	51409187	C	A	1	0	0	0	0	1	0	0	0	13002	884	31	1		1	PXDNL	8	51409187	Missense_Mutation	SNP	C	C3L-01889_TP	49293119	51409187	93729449	89	8197											
ZFHX4	0	.	GRCh38	chr8	76705137	76705137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttatccccatttttctaCtacaaacctcataggacccg	10	14	4	13	1	2	0	1	0	1	0	3	1	3	1	4	1	3	1	4	1	5	7	rs370676988		C3L-01889_TP	C3L-01889_NB	C	C																c.1049C>T	p.Thr350Ile	p.T350I	ENST00000521891	2/11	155	112	43	177	177	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Thr350Ile,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Thr350Ile,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	T	ENST00000521891	Transcript	missense_variant	1497/14019	1049/10851	350/3616	T/I	aCt/aTt	rs370676988	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0)		2/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	MODERATE	1	SNV	5			1										PASS		rs370676988	.												T	3	4	28	76705137	76705137	C	T	1	0	0	0	0	1	0	0	0	18213	565	20	3		3	ZFHX4	8	76705137	Missense_Mutation	SNP	C	C3L-01889_TP	25295950	76705137	68433499	90	8198											
ZFHX4	0	.	GRCh38	chr8	76851910	76851910	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgtaaacagcaaagatacCcatttagatgccaaagaatt	17	9	7	8	0	0	3	0	0	0	3	0	3	0	3	2	0	4	3	2	0	7	5	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.4989C>G	p.=	p.T1663T	ENST00000521891	10/11	192	150	42	245	245	0	strelka-varscan-mutect	ZFHX4,synonymous_variant,p.=,ENST00000521891,NM_024721.4;ZFHX4,synonymous_variant,p.=,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;	G	ENST00000521891	Transcript	synonymous_variant	5437/14019	4989/10851	1663/3616	T	acC/acG		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4			10/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	28	76851910	76851910	C	G	1	0	0	0	0	0	0	0	1	18213	610	22	4		4	ZFHX4	8	76851910	Silent	SNP	C	C3L-01889_TP	146773	76851910	68286726	91	8199											
PUF60	0	.	GRCh38	chr8	143818049	143818049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctatgatgggctgggcCtgccctatgttgctgggtct	3	14	15	9	0	2	1	0	1	2	0	2	1	2	1	2	4	2	3	2	4	2	3	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.630G>T	p.Gln210His	p.Q210H	ENST00000526683	8/12	322	234	88	246	246	0	strelka-varscan-mutect	PUF60,missense_variant,p.Gln210His,ENST00000526683,NM_001271098.1,NM_078480.2;PUF60,missense_variant,p.Gln167His,ENST00000453551,NM_001136033.2;PUF60,missense_variant,p.Gln193His,ENST00000349157,NM_014281.4,NM_001271096.1;PUF60,missense_variant,p.Gln150His,ENST00000313352,NM_001271100.1;PUF60,missense_variant,p.Gln181His,ENST00000456095,NM_001271099.1;PUF60,missense_variant,p.Gln164His,ENST00000527197,NM_001271097.1;PUF60,missense_variant,p.Gln208His,ENST00000527744,;PUF60,missense_variant,p.Gln192His,ENST00000526459,;PUF60,missense_variant,p.Gln230His,ENST00000529999,;PUF60,missense_variant,p.Gln230His,ENST00000531897,;PUF60,intron_variant,,ENST00000532884,;SCRIB,upstream_gene_variant,,ENST00000356994,NM_182706.4;SCRIB,upstream_gene_variant,,ENST00000320476,NM_015356.4;SCRIB,upstream_gene_variant,,ENST00000377533,;PUF60,downstream_gene_variant,,ENST00000533162,;PUF60,non_coding_transcript_exon_variant,,ENST00000524570,;PUF60,non_coding_transcript_exon_variant,,ENST00000531951,;PUF60,non_coding_transcript_exon_variant,,ENST00000528999,;PUF60,downstream_gene_variant,,ENST00000533362,;PUF60,non_coding_transcript_exon_variant,,ENST00000528320,;PUF60,downstream_gene_variant,,ENST00000529693,;PUF60,downstream_gene_variant,,ENST00000531995,;PUF60,downstream_gene_variant,,ENST00000532127,;PUF60,downstream_gene_variant,,ENST00000526151,;PUF60,downstream_gene_variant,,ENST00000527584,;	A	ENST00000526683	Transcript	missense_variant	1186/2412	630/1680	210/559	Q/H	caG/caT		1		-1	PUF60	HGNC	HGNC:17042	protein_coding	YES	CCDS47934.1	ENSP00000434359	Q9UHX1		UPI00000713CF	NM_001271098.1,NM_078480.2	deleterious(0)		8/12		Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01645																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	143818049	143818049	C	A	1	0	0	0	0	1	0	0	0	12981	680	24	2		2	PUF60	8	143818049	Missense_Mutation	SNP	C	C3L-01889_TP	66966139	143818049	1320587	92	8200											
ADAMTSL1	0	.	GRCh38	chr9	18639378	18639378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagagatactgagaatGgctggaccactcacagcaga	16	5	11	9	0	1	3	1	1	0	3	1	7	1	4	1	2	2	2	1	2	3	1	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.801G>A	p.Met267Ile	p.M267I	ENST00000380548	7/29	135	127	8	160	160	0	strelka-varscan-mutect	ADAMTSL1,missense_variant,p.Met267Ile,ENST00000380548,NM_001040272.5;ADAMTSL1,missense_variant,p.Met267Ile,ENST00000276935,;ADAMTSL1,missense_variant,p.Met267Ile,ENST00000380566,;ADAMTSL1,missense_variant,p.Met267Ile,ENST00000327883,NM_052866.4;	A	ENST00000380548	Transcript	missense_variant	1140/8030	801/5289	267/1762	M/I	atG/atA		1		1	ADAMTSL1	HGNC	HGNC:14632	protein_coding	YES	CCDS47954.1	ENSP00000369921	Q8N6G6		UPI000004FD83	NM_001040272.5	tolerated(1)		7/29		hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	28	18639378	18639378	G	A	1	0	0	0	0	1	0	0	0	318	1348	47	3		3	ADAMTSL1	9	18639378	Missense_Mutation	SNP	G	C3L-01889_TP		18639378	119755339	93	8201											
LINC00961	0	.	GRCh38	chr9	35910529	35910529	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgtggccatcacctgcgtCctctgctgcttcagctgtga	5	12	10	14	1	3	1	2	1	1	0	4	1	4	1	3	1	4	3	3	1	0	1	rs41312816		C3L-01889_TP	C3L-01889_NB	C	C																c.66C>A	p.=	p.V22V	ENST00000443779	2/2	326	244	82	264	263	1	strelka-varscan-mutect	LINC00961,synonymous_variant,p.=,ENST00000443779,;LINC00961,synonymous_variant,p.=,ENST00000636776,;HRCT1,downstream_gene_variant,,ENST00000354323,NM_001039792.1;LINC00961,synonymous_variant,p.=,ENST00000638062,;	A	ENST00000443779	Transcript	synonymous_variant	455/1612	66/228	22/75	V	gtC/gtA	rs41312816	1		1	LINC00961	HGNC	HGNC:27244	protein_coding	YES		ENSP00000490187			UPI00002113C6				2/2		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		rs41312816	.												A	2	1	28	35910529	35910529	C	A	1	0	0	0	0	0	0	0	1	8731	842	30	2		2	LINC00961	9	35910529	Silent	SNP	C	C3L-01889_TP	17271151	35910529	102484188	94	8202											
SHC3	0	.	GRCh38	chr9	89038047	89038047	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggccattgtgcatgccCgtgaggacaaaggagcccgg	8	6	15	12	2	0	1	0	1	0	0	0	3	0	3	4	4	3	1	4	4	1	1	rs575391468		C3L-01889_TP	C3L-01889_NB	C	C																c.1602G>T	p.=	p.T534T	ENST00000375835	11/12	164	110	54	179	179	0	strelka-varscan-mutect	SHC3,synonymous_variant,p.=,ENST00000375835,NM_016848.5;SHC3,synonymous_variant,p.=,ENST00000375831,;	A	ENST00000375835	Transcript	synonymous_variant	1909/9768	1602/1785	534/594	T	acG/acT	rs575391468	1		-1	SHC3	HGNC	HGNC:18181	protein_coding	YES	CCDS6681.1	ENSP00000364995	Q92529		UPI0000073E1F	NM_016848.5			11/12		PROSITE_profiles:PS50001,hmmpanther:PTHR10337:SF4,hmmpanther:PTHR10337,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550																	LOW	1	SNV	1			1										PASS		rs575391468	.												A	2	1	28	89038047	89038047	C	A	1	0	0	0	0	0	0	0	1	14531	639	23	1		1	SHC3	9	89038047	Silent	SNP	C	C3L-01889_TP	53127518	89038047	49356670	95	8203											
OR13C3	0	.	GRCh38	chr9	104536777	104536777	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacatgaaatgtatttactgCcaagaaacaaacagtacaaa	21	8	5	7	0	0	2	0	1	0	1	0	2	0	2	1	0	6	2	1	0	9	4	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.37G>T	p.Ala13Ser	p.A13S	ENST00000374781	1/1	113	79	34	114	114	0	strelka-varscan-mutect	OR13C3,missense_variant,p.Ala13Ser,ENST00000374781,NM_001001961.1;RP11-317C20.9,non_coding_transcript_exon_variant,,ENST00000635678,;	A	ENST00000374781	Transcript	missense_variant	80/1108	37/1044	13/347	A/S	Gca/Tca		1		-1	OR13C3	HGNC	HGNC:14704	protein_coding	YES	CCDS35089.1	ENSP00000363913	Q8NGS6	A0A126GVY9	UPI000015F232	NM_001001961.1	tolerated_low_confidence(0.72)		1/1		Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												A	3	1	28	104536777	104536777	C	A	1	0	0	0	0	1	0	0	0	11011	739	26	2		2	OR13C3	9	104536777	Missense_Mutation	SNP	C	C3L-01889_TP	15498730	104536777	33857940	96	8204											
AMBP	0	.	GRCh38	chr9	114061053	114061053	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaatgcccagagctggAtgaaggctcggcaggggccc	10	5	14	12	1	1	2	1	1	0	1	2	3	1	3	2	5	2	3	2	5	2	0	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.899T>C	p.Ile300Thr	p.I300T	ENST00000265132	9/10	207	161	46	164	164	0	strelka-varscan-mutect	AMBP,missense_variant,p.Ile300Thr,ENST00000265132,NM_001633.3;AMBP,missense_variant,p.Ile173Thr,ENST00000466610,;ZNF618,downstream_gene_variant,,ENST00000615615,NM_001318040.1,NM_001318042.1,NM_001318041.1;ZNF618,downstream_gene_variant,,ENST00000288466,NM_133374.2;AMBP,non_coding_transcript_exon_variant,,ENST00000540645,;AMBP,downstream_gene_variant,,ENST00000603230,;	G	ENST00000265132	Transcript	missense_variant	1162/1434	899/1059	300/352	I/T	aTc/aCc		1		-1	AMBP	HGNC	HGNC:453	protein_coding	YES	CCDS6800.1	ENSP00000265132	P02760		UPI000000D9AF	NM_001633.3	tolerated(0.39)		9/10		PROSITE_profiles:PS50279,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF18,Gene3D:4.10.410.10,Pfam_domain:PF00014,SMART_domains:SM00131,Superfamily_domains:SSF57362																	MODERATE	1	SNV	1			1										PASS		rs1388694890	.												G	3	3	28	114061053	114061053	A	G	1	0	0	0	0	1	0	0	0	660	333	12	5		5	AMBP	9	114061053	Missense_Mutation	SNP	A	C3L-01889_TP	9524276	114061053	24333664	97	8205											
GARNL3	0	.	GRCh38	chr9	127355342	127355342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaccacagcagagagctgaGgattgtggttgcaattcgga	11	9	13	8	1	1	2	1	1	0	1	2	5	1	4	1	3	3	4	1	3	1	3	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.1805G>T	p.Arg602Met	p.R602M	ENST00000373387	20/28	169	130	39	187	187	0	strelka-varscan-mutect	GARNL3,missense_variant,p.Arg602Met,ENST00000373387,NM_032293.4;GARNL3,missense_variant,p.Arg580Met,ENST00000435213,NM_001286779.1;GARNL3,non_coding_transcript_exon_variant,,ENST00000478696,;GARNL3,upstream_gene_variant,,ENST00000496711,;GARNL3,missense_variant,p.Arg584Met,ENST00000373386,;GARNL3,3_prime_UTR_variant,,ENST00000460176,;GARNL3,non_coding_transcript_exon_variant,,ENST00000481875,;	T	ENST00000373387	Transcript	missense_variant	2157/3800	1805/3042	602/1013	R/M	aGg/aTg		1		1	GARNL3	HGNC	HGNC:25425	protein_coding	YES	CCDS6869.2	ENSP00000362485	Q5VVW2		UPI0000EE56F2	NM_032293.4	deleterious(0)		20/28		PROSITE_profiles:PS50219,hmmpanther:PTHR15711:SF24,hmmpanther:PTHR15711,Pfam_domain:PF00780,SMART_domains:SM00036																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	127355342	127355342	G	T	1	0	0	0	0	1	0	0	0	6111	1000	35	2		2	GARNL3	9	127355342	Missense_Mutation	SNP	G	C3L-01889_TP	13294289	127355342	11039375	98	8206											
ITGA8	0	.	GRCh38	chr10	15684065	15684065	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattgctacatagcaggtGccaactgggtccttttctgg	8	13	11	9	0	1	1	0	1	1	0	2	1	2	1	2	3	5	2	2	3	4	5	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.507C>A	p.=	p.G169G	ENST00000378076	4/30	235	182	53	233	233	0	strelka-varscan-mutect	ITGA8,synonymous_variant,p.=,ENST00000378076,NM_003638.2,NM_001291494.1;	T	ENST00000378076	Transcript	synonymous_variant	861/6755	507/3192	169/1063	G	ggC/ggA		1		-1	ITGA8	HGNC	HGNC:6144	protein_coding	YES	CCDS31155.1	ENSP00000367316	P53708		UPI00001D80A0	NM_003638.2,NM_001291494.1			4/30		Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Superfamily_domains:SSF69318																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	28	15684065	15684065	G	T	1	0	0	0	0	0	0	0	1	7789	1306	46	2		2	ITGA8	10	15684065	Silent	SNP	G	C3L-01889_TP		15684065	118113357	99	8207											
LRRTM3	0	.	GRCh38	chr10	66927985	66927985	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgatcgatgcagtgaagAactacagcatctgtggcaaa	14	9	11	7	1	1	3	0	2	1	1	2	4	1	3	0	1	4	3	0	1	4	1	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.1069A>T	p.Asn357Tyr	p.N357Y	ENST00000361320	2/3	282	211	71	320	320	0	strelka-varscan-mutect	LRRTM3,missense_variant,p.Asn357Tyr,ENST00000361320,NM_178011.4;CTNNA3,intron_variant,,ENST00000433211,NM_001127384.2,NM_013266.3;CTNNA3,intron_variant,,ENST00000494580,;	T	ENST00000361320	Transcript	missense_variant	1647/4358	1069/1746	357/581	N/Y	Aac/Tac		1		1	LRRTM3	HGNC	HGNC:19410	protein_coding	YES	CCDS7270.1	ENSP00000355187	Q86VH5		UPI0000088C0F	NM_178011.4	tolerated(0.76)		2/3		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF54																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	66927985	66927985	A	T	1	0	0	0	0	1	0	0	0	8947	246	9	4		4	LRRTM3	10	66927985	Missense_Mutation	SNP	A	C3L-01889_TP	51243920	66927985	66869437	100	8208											
ANKRD22	0	.	GRCh38	chr10	88831846	88831846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacctcacctggtttttgaGgttgacattagcatttcttc	7	17	8	9	0	2	3	1	3	1	0	3	3	2	3	2	2	1	3	2	2	1	6	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.202C>A	p.Leu68Ile	p.L68I	ENST00000371930	2/6	60	56	4	69	69	0	varscan-mutect	ANKRD22,missense_variant,p.Leu68Ile,ENST00000371930,NM_144590.2;	T	ENST00000371930	Transcript	missense_variant	413/1596	202/576	68/191	L/I	Ctc/Atc		1		-1	ANKRD22	HGNC	HGNC:28321	protein_coding	YES	CCDS7390.1	ENSP00000360998	Q5VYY1		UPI000013DCF6	NM_144590.2	tolerated(0.58)		2/6		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24139,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs1437457952	.												T	3	4	28	88831846	88831846	G	T	1	0	0	0	0	1	0	0	0	754	1000	35	2		2	ANKRD22	10	88831846	Missense_Mutation	SNP	G	C3L-01889_TP	21903861	88831846	44965576	101	8209											
ZNF518A	0	.	GRCh38	chr10	96158386	96158386	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttatcactagtgaggcaGgagagctcaaaaccagatag	14	10	10	7	0	2	3	2	1	0	2	2	4	2	3	1	2	2	2	1	2	5	5	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.2064G>A	p.=	p.Q688Q	ENST00000624776	6/6	207	155	52	206	206	0	strelka-varscan-mutect	ZNF518A,synonymous_variant,p.=,ENST00000624776,NM_001278525.1;ZNF518A,synonymous_variant,p.=,ENST00000614149,;ZNF518A,synonymous_variant,p.=,ENST00000316045,NM_001278524.1,NM_014803.3;ZNF518A,downstream_gene_variant,,ENST00000478086,;ZNF518A,intron_variant,,ENST00000563195,;ZNF518A,intron_variant,,ENST00000442635,;ZNF518A,downstream_gene_variant,,ENST00000488700,;ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,;	A	ENST00000624776	Transcript	synonymous_variant	2628/7994	2064/4452	688/1483	Q	caG/caA		1		1	ZNF518A	HGNC	HGNC:29009	protein_coding	YES	CCDS73170.1	ENSP00000485614	Q6AHZ1		UPI00003FEC7C	NM_001278525.1			6/6		hmmpanther:PTHR10032:SF198,hmmpanther:PTHR10032																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	28	96158386	96158386	G	A	1	0	0	0	0	0	0	0	1	18534	991	35	3		3	ZNF518A	10	96158386	Silent	SNP	G	C3L-01889_TP	7326540	96158386	37639036	102	8210											
GFRA1	0	.	GRCh38	chr10	116125472	116125472	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgcacggggtgatgtaCgccgacctgtacttcttgca	6	11	14	10	3	1	1	0	1	1	0	1	2	1	1	2	3	4	4	2	3	2	4	rs768119844		C3L-01889_TP	C3L-01889_NB	C	C																c.519G>C	p.=	p.A173A	ENST00000355422	6/11	167	122	45	186	186	0	strelka-varscan-mutect	GFRA1,synonymous_variant,p.=,ENST00000439649,NM_001145453.1;GFRA1,synonymous_variant,p.=,ENST00000369236,NM_145793.3;GFRA1,synonymous_variant,p.=,ENST00000355422,NM_005264.4;GFRA1,synonymous_variant,p.=,ENST00000369234,;	G	ENST00000355422	Transcript	synonymous_variant	1070/2583	519/1398	173/465	A	gcG/gcC	rs768119844	1		-1	GFRA1	HGNC	HGNC:4243	protein_coding	YES	CCDS44481.1	ENSP00000347591	P56159		UPI000012B3A8	NM_005264.4			6/11		hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF3,Pfam_domain:PF02351,PIRSF_domain:PIRSF038071,SMART_domains:SM00907																	LOW	1	SNV	5			1										PASS		rs768119844	.												G	2	3	28	116125472	116125472	C	G	1	0	0	0	0	0	0	0	1	6221	523	19	4		4	GFRA1	10	116125472	Silent	SNP	C	C3L-01889_TP	19967086	116125472	17671950	103	8211											
PNLIPRP1	0	.	GRCh38	chr10	116594810	116594810	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacctacacacaggctgcCaacaacgtgcgagtggtggg	10	5	13	13	2	0	0	0	0	0	0	0	1	0	0	3	3	5	1	3	3	3	1			C3L-01889_TP	C3L-01889_NB	C	C																c.411C>A	p.=	p.A137A	ENST00000528052	5/13	276	211	65	226	226	0	strelka-varscan-mutect	PNLIPRP1,synonymous_variant,p.=,ENST00000528052,NM_001303135.1;PNLIPRP1,synonymous_variant,p.=,ENST00000358834,NM_006229.3;PNLIPRP1,synonymous_variant,p.=,ENST00000534537,;PNLIPRP1,synonymous_variant,p.=,ENST00000531984,;PNLIPRP1,intron_variant,,ENST00000530319,;PNLIPRP1,intron_variant,,ENST00000527980,;PNLIPRP1,downstream_gene_variant,,ENST00000471549,;PNLIPRP1,downstream_gene_variant,,ENST00000480870,;PNLIPRP1,downstream_gene_variant,,ENST00000525157,;PNLIPRP1,downstream_gene_variant,,ENST00000510125,;PNLIPRP1,synonymous_variant,p.=,ENST00000482833,;PNLIPRP1,3_prime_UTR_variant,,ENST00000497792,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000526223,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000531825,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525820,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000484402,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000529584,;PNLIPRP1,downstream_gene_variant,,ENST00000482159,;PNLIPRP1,downstream_gene_variant,,ENST00000530626,;PNLIPRP1,upstream_gene_variant,,ENST00000534513,;PNLIPRP1,downstream_gene_variant,,ENST00000470678,;	A	ENST00000528052	Transcript	synonymous_variant	482/1533	411/1404	137/467	A	gcC/gcA	COSM2153960	1		1	PNLIPRP1	HGNC	HGNC:9156	protein_coding	YES	CCDS7595.1	ENSP00000433933	P54315		UPI000012E6AA	NM_001303135.1			5/13		Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Prints_domain:PR00823,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF108,Superfamily_domains:SSF53474											1						LOW	1	SNV	2		1	1										PASS		.	.												A	2	1	28	116594810	116594810	C	A	1	0	0	0	0	0	0	0	1	12258	581	21	2		2	PNLIPRP1	10	116594810	Silent	SNP	C	C3L-01889_TP	469338	116594810	17202612	104	8212											
DEAF1	0	.	GRCh38	chr11	688391	688391	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacgatgctcccatctgTgtggacgacaatcagtgtcg	8	10	10	13	3	2	0	1	0	1	0	5	3	4	1	2	1	1	1	2	1	1	0	rs772491770		C3L-01889_TP	C3L-01889_NB	T	T																c.457A>T	p.Thr153Ser	p.T153S	ENST00000382409	3/12	247	180	67	204	204	0	strelka-varscan-mutect	DEAF1,missense_variant,p.Thr153Ser,ENST00000382409,NM_021008.3;DEAF1,non_coding_transcript_exon_variant,,ENST00000525626,;DEAF1,non_coding_transcript_exon_variant,,ENST00000528864,;DEAF1,non_coding_transcript_exon_variant,,ENST00000524786,;DEAF1,upstream_gene_variant,,ENST00000530813,;DEAF1,downstream_gene_variant,,ENST00000529727,;DEAF1,3_prime_UTR_variant,,ENST00000529717,;DEAF1,upstream_gene_variant,,ENST00000527170,;	A	ENST00000382409	Transcript	missense_variant	942/2500	457/1698	153/565	T/S	Aca/Tca	rs772491770	1		-1	DEAF1	HGNC	HGNC:14677	protein_coding	YES	CCDS31327.1	ENSP00000371846	O75398		UPI00001290E6	NM_021008.3	tolerated(0.08)		3/12		hmmpanther:PTHR10237																	MODERATE	1	SNV	1			1										PASS		rs772491770	.												A	3	1	28	688391	688391	T	A	1	0	0	0	0	1	0	0	0	4183	1696	59	4		4	DEAF1	11	688391	Missense_Mutation	SNP	T	C3L-01889_TP		688391	134398231	105	8213											
OR52N2	0	.	GRCh38	chr11	5820511	5820511	+	Missense_Mutation	SNP	G	G	A																															ccatgaggaggccctgcaccGgcccatgtactacttcctgg																								rs754168631		C3L-01889_TP	C3L-01889_NB	G	G																c.176G>A	p.Arg59Gln	p.R59Q	ENST00000317037	1/1	81	61	20	79	79	0	strelka-varscan-mutect	OR52N2,missense_variant,p.Arg59Gln,ENST00000317037,NM_001005174.1;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	A	ENST00000317037	Transcript	missense_variant	198/1035	176/966	59/321	R/Q	cGg/cAg	rs754168631,COSM1260404	1		1	OR52N2	HGNC	HGNC:15228	protein_coding	YES	CCDS31399.1	ENSP00000322801	Q8NGI0		UPI0000041BEB	NM_001005174.1	tolerated(0.49)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF185,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs754168631	.												A	3	1	28	5820511	5820511	G	A	1	0	0	0	0	1	0	0	0	11201	1116	39	1		1	OR52N2	11	5820511	Missense_Mutation	SNP	G	C3L-01889_TP	5132120	5820511	129266111	106	8214	186	2									
OR52N2	0	.	GRCh38	chr11	5820512	5820512	+	Silent	SNP	G	G	T																															catgaggaggccctgcaccgGcccatgtactacttcctggc																								novel		C3L-01889_TP	C3L-01889_NB	G	G																c.177G>T	p.=	p.R59R	ENST00000317037	1/1	81	61	20	78	78	0	strelka-varscan-mutect	OR52N2,synonymous_variant,p.=,ENST00000317037,NM_001005174.1;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	T	ENST00000317037	Transcript	synonymous_variant	199/1035	177/966	59/321	R	cgG/cgT		1		1	OR52N2	HGNC	HGNC:15228	protein_coding	YES	CCDS31399.1	ENSP00000322801	Q8NGI0		UPI0000041BEB	NM_001005174.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF185,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	28	5820512	5820512	G	T	1	0	0	0	0	0	0	0	1	11201	1190	42	2		2	OR52N2	11	5820512	Silent	SNP	G	C3L-01889_TP	1	5820512	129266110	107	8215	186	2									
DNHD1	0	.	GRCh38	chr11	6498689	6498689	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcggaggctccatcaCaggcccccatgcccagcttg	9	5	11	16	1	1	1	1	0	0	1	2	2	2	2	4	3	3	2	4	3	1	1	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.474C>T	p.=	p.H158H	ENST00000254579	3/43	165	127	38	157	157	0	strelka-varscan-mutect	DNHD1,synonymous_variant,p.=,ENST00000254579,NM_144666.2;DNHD1,synonymous_variant,p.=,ENST00000527990,;DNHD1,synonymous_variant,p.=,ENST00000354685,NM_173589.3;DNHD1,downstream_gene_variant,,ENST00000496802,;DNHD1,non_coding_transcript_exon_variant,,ENST00000477562,;DNHD1,intron_variant,,ENST00000473019,;	T	ENST00000254579	Transcript	synonymous_variant	1038/14862	474/14262	158/4753	H	caC/caT		1		1	DNHD1	HGNC	HGNC:26532	protein_coding	YES	CCDS44532.1	ENSP00000254579	Q96M86		UPI0001929529	NM_144666.2			3/43		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF244																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	28	6498689	6498689	C	T	1	0	0	0	0	0	0	0	1	4481	477	17	3		3	DNHD1	11	6498689	Silent	SNP	C	C3L-01889_TP	678177	6498689	128587933	108	8216											
OTOG	0	.	GRCh38	chr11	17586572	17586572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaggtgatgtctccttGccatacctggtaagtgaggg	8	10	14	9	0	1	2	0	2	1	0	2	3	1	3	4	4	2	1	4	4	2	3	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.2894G>T	p.Cys965Phe	p.C965F	ENST00000399391	23/55	17	12	5	25	25	0	strelka-varscan-mutect	OTOG,missense_variant,p.Cys953Phe,ENST00000399397,NM_001292063.1;OTOG,missense_variant,p.Cys965Phe,ENST00000399391,NM_001277269.1;OTOG,missense_variant,p.Leu26Phe,ENST00000342528,;	T	ENST00000399391	Transcript	missense_variant	2894/8778	2894/8778	965/2925	C/F	tGc/tTc		1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1	deleterious(0.01)		23/55		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228,SMART_domains:SM00215,Superfamily_domains:SSF57603																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	28	17586572	17586572	G	T	1	0	0	0	0	1	0	0	0	11370	1319	46	2		2	OTOG	11	17586572	Missense_Mutation	SNP	G	C3L-01889_TP	11087883	17586572	117500050	109	8217											
BBOX1	0	.	GRCh38	chr11	27125773	27125773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgaaggagtttgttgAcctcatgaacagcaaagaat	13	11	10	7	0	2	4	1	3	1	1	2	5	2	5	1	1	3	4	1	1	4	2	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.956A>G	p.Asp319Gly	p.D319G	ENST00000263182	8/9	174	134	40	194	194	0	strelka-varscan-mutect	BBOX1,missense_variant,p.Asp319Gly,ENST00000263182,NM_003986.2;BBOX1,missense_variant,p.Asp319Gly,ENST00000529202,;BBOX1,missense_variant,p.Asp319Gly,ENST00000528583,;BBOX1,missense_variant,p.Asp319Gly,ENST00000525090,;BBOX1-AS1,intron_variant,,ENST00000530430,;BBOX1-AS1,intron_variant,,ENST00000525302,;BBOX1-AS1,intron_variant,,ENST00000526061,;	G	ENST00000263182	Transcript	missense_variant	1324/1886	956/1164	319/387	D/G	gAc/gGc		1		1	BBOX1	HGNC	HGNC:964	protein_coding	YES	CCDS7862.1	ENSP00000263182	O75936		UPI0000126A4C	NM_003986.2	deleterious(0.04)		8/9		hmmpanther:PTHR10696:SF33,hmmpanther:PTHR10696,TIGRFAM_domain:TIGR02409,Gene3D:3.60.130.10,Pfam_domain:PF02668,Superfamily_domains:SSF51197																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	28	27125773	27125773	A	G	1	0	0	0	0	1	0	0	0	1481	275	10	5		5	BBOX1	11	27125773	Missense_Mutation	SNP	A	C3L-01889_TP	9539201	27125773	107960849	110	8218											
HSD17B12	0	.	GRCh38	chr11	43815502	43815503	+	Splice_Site	INS	-	-	T																															tgttcctgacttggacaatgINStaagtctttctttgtgtatt																								novel		C3L-01889_TP	C3L-01889_NB	-	-																c.456+2dupT		p.X152_splice	ENST00000278353		52	39	13	54	54	0	sindel-varindel-pindel	HSD17B12,splice_donor_variant,,ENST00000278353,NM_016142.2;HSD17B12,splice_donor_variant,,ENST00000637401,;HSD17B12,splice_donor_variant,,ENST00000531185,;HSD17B12,splice_donor_variant,,ENST00000638034,;RP11-472I20.4,splice_donor_variant,,ENST00000532864,;RP11-472I20.4,splice_donor_variant,,ENST00000529261,;HSD17B12,splice_donor_variant,,ENST00000527213,;HSD17B12,splice_donor_variant,,ENST00000527433,;HSD17B12,intron_variant,,ENST00000636007,;	T	ENST00000278353	Transcript	splice_donor_variant	-/2571	456/939	152/312				1		1	HSD17B12	HGNC	HGNC:18646	protein_coding	YES	CCDS7905.1	ENSP00000278353	Q53GQ0		UPI000004C79B	NM_016142.2				5/10																		HIGH	1	insertion	1	1		1										PASS		.	.												T	8	5	28	43815502	43815502	-	T	1	0	1	1	0	0	0	1	0	7276	1391	48	0		0	HSD17B12	11	43815502	Splice_Site	INS	-	C3L-01889_TP	16689729	43815502	91271120	111	8219											
OR5T3	0	.	GRCh38	chr11	56252576	56252576	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	taaatccatttcatttatcgGatgtgcaacacagatgcttc	12	14	6	9	1	1	1	1	0	0	1	4	2	2	2	1	1	3	2	1	1	4	5	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.377G>C	p.Gly126Ala	p.G126A	ENST00000303059	1/1	270	193	77	304	304	0	strelka-varscan-mutect	OR5T3,missense_variant,p.Gly126Ala,ENST00000303059,NM_001004747.1;	C	ENST00000303059	Transcript	missense_variant	377/1023	377/1023	126/340	G/A	gGa/gCa		1		1	OR5T3	HGNC	HGNC:15297	protein_coding	YES	CCDS31524.1	ENSP00000305403	Q8NGG3		UPI0000061E96	NM_001004747.1	tolerated(0.19)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	28	56252576	56252576	G	C	1	0	0	0	0	1	0	0	0	11251	1174	41	4		4	OR5T3	11	56252576	Missense_Mutation	SNP	G	C3L-01889_TP	12437074	56252576	78834046	112	8220											
MPEG1	0	.	GRCh38	chr11	59211440	59211440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcccccaaaaagcagtcCtgagttttcaggtacttggc	10	9	11	11	0	1	1	1	1	0	0	2	2	2	1	3	3	2	3	3	3	3	4	rs753784064		C3L-01889_TP	C3L-01889_NB	C	C																c.1426G>A	p.Gly476Arg	p.G476R	ENST00000361050	1/1	135	121	14	168	168	0	strelka-varscan-mutect	MPEG1,missense_variant,p.Gly476Arg,ENST00000361050,NM_001039396.1;DTX4,downstream_gene_variant,,ENST00000227451,NM_015177.1;RN7SL42P,downstream_gene_variant,,ENST00000579786,;	T	ENST00000361050	Transcript	missense_variant	1512/4442	1426/2151	476/716	G/R	Gga/Aga	rs753784064	1		-1	MPEG1	HGNC	HGNC:29619	protein_coding	YES	CCDS41650.1	ENSP00000354335	Q2M385		UPI0000049D9F	NM_001039396.1	deleterious(0)		1/1		hmmpanther:PTHR31463,hmmpanther:PTHR31463:SF4																	MODERATE		SNV				1										PASS		rs753784064	.												T	3	4	28	59211440	59211440	C	T	1	0	0	0	0	1	0	0	0	9688	690	24	3		3	MPEG1	11	59211440	Missense_Mutation	SNP	C	C3L-01889_TP	2958864	59211440	75875182	113	8221											
ALDH3B2	0	.	GRCh38	chr11	67666593	67666593	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcggcgagggcgcccacCaggagcaccagggtcaggtt	7	4	16	14	3	1	0	1	0	0	0	1	2	1	1	4	5	2	2	4	5	0	1	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.132G>T	p.=	p.L44L	ENST00000349015	4/10	183	128	55	161	161	0	strelka-varscan-mutect	ALDH3B2,synonymous_variant,p.=,ENST00000349015,NM_000695.3;ALDH3B2,synonymous_variant,p.=,ENST00000530069,NM_001031615.1;ALDH3B2,synonymous_variant,p.=,ENST00000525827,;ALDH3B2,synonymous_variant,p.=,ENST00000528756,;ALDH3B2,upstream_gene_variant,,ENST00000531248,;ALDH3B2,non_coding_transcript_exon_variant,,ENST00000531881,;ALDH3B2,downstream_gene_variant,,ENST00000533962,;ALDH3B2,non_coding_transcript_exon_variant,,ENST00000534425,;	A	ENST00000349015	Transcript	synonymous_variant	571/2649	132/1158	44/385	L	ctG/ctT		1		-1	ALDH3B2	HGNC	HGNC:411	protein_coding	YES	CCDS31622.1	ENSP00000255084	P48448		UPI000013CE83	NM_000695.3			4/10		Low_complexity_(Seg):seg,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF179,Pfam_domain:PF00171,Gene3D:3.40.605.10,Superfamily_domains:SSF53720																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	28	67666593	67666593	C	A	1	0	0	0	0	0	0	0	1	600	581	21	2		2	ALDH3B2	11	67666593	Silent	SNP	C	C3L-01889_TP	8455153	67666593	67420029	114	8222											
CEP57	0	.	GRCh38	chr11	95818825	95818825	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttgacatttttatcactAgaaaaaaatgcaagagttgg	15	14	7	5	0	1	3	1	1	0	2	1	3	1	3	0	1	1	2	0	1	6	7	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.622-2A>G		p.X208_splice	ENST00000325542		273	198	75	285	285	0	strelka-varscan-mutect	CEP57,splice_acceptor_variant,,ENST00000325542,NM_014679.4;CEP57,splice_acceptor_variant,,ENST00000325486,NM_001243777.1;CEP57,splice_acceptor_variant,,ENST00000541150,NM_001243776.1;CEP57,splice_acceptor_variant,,ENST00000538658,;CEP57,splice_acceptor_variant,,ENST00000537677,;CEP57,splice_acceptor_variant,,ENST00000541365,;CEP57,splice_acceptor_variant,,ENST00000535224,;CEP57,splice_acceptor_variant,,ENST00000537093,;CEP57,downstream_gene_variant,,ENST00000544522,;CEP57,downstream_gene_variant,,ENST00000536587,;CEP57,splice_acceptor_variant,,ENST00000540830,;CEP57,splice_acceptor_variant,,ENST00000539855,;CEP57,downstream_gene_variant,,ENST00000541768,;	G	ENST00000325542	Transcript	splice_acceptor_variant	-/3178	622/1503	208/500				1		1	CEP57	HGNC	HGNC:30794	protein_coding	YES	CCDS8304.1	ENSP00000317902	Q86XR8		UPI0000070D0B	NM_014679.4				5/10																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	28	95818825	95818825	A	G	1	0	0	0	0	0	0	1	0	2976	434	15	5		5	CEP57	11	95818825	Splice_Site	SNP	A	C3L-01889_TP	28152232	95818825	39267797	115	8223											
ARHGAP42	0	.	GRCh38	chr11	100973304	100973304	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaaatttcagaatattgtGgtagaaattctgatagagca	16	14	8	3	0	2	4	1	1	1	3	2	4	2	4	0	1	1	2	0	1	7	7			C3L-01889_TP	C3L-01889_NB	G	G																c.1680G>T	p.=	p.V560V	ENST00000298815	18/24	200	135	65	210	210	0	strelka-varscan-mutect	ARHGAP42,synonymous_variant,p.=,ENST00000524892,;ARHGAP42,synonymous_variant,p.=,ENST00000298815,NM_152432.2;ARHGAP42,synonymous_variant,p.=,ENST00000529535,;	T	ENST00000298815	Transcript	synonymous_variant	1683/4752	1680/2625	560/874	V	gtG/gtT	COSM3383133,COSM3383134	1		1	ARHGAP42	HGNC	HGNC:26545	protein_coding	YES		ENSP00000298815	A6NI28		UPI00005778C9	NM_152432.2			18/24		PROSITE_profiles:PS50238,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF3,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350											1,1						LOW	1	SNV	5		1,1	1										PASS		rs1362276486	.												T	2	4	28	100973304	100973304	G	T	1	0	0	0	0	0	0	0	1	1013	1335	47	2		2	ARHGAP42	11	100973304	Silent	SNP	G	C3L-01889_TP	5154479	100973304	34113318	116	8224											
NXPE1	0	.	GRCh38	chr11	114530277	114530277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatgtgttgaggcttcataCaatagaaggcttcttggtct	9	14	11	7	0	3	2	1	1	2	1	3	2	3	2	0	3	1	4	0	3	4	6	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.305G>T	p.Cys102Phe	p.C102F	ENST00000251921	3/6	194	152	42	213	212	1	strelka-mutect	NXPE1,missense_variant,p.Cys244Phe,ENST00000536312,;NXPE1,missense_variant,p.Cys244Phe,ENST00000424269,;NXPE1,missense_variant,p.Cys102Phe,ENST00000251921,NM_152315.3;NXPE1,upstream_gene_variant,,ENST00000536271,;NXPE1,downstream_gene_variant,,ENST00000539878,;NXPE1,downstream_gene_variant,,ENST00000534921,;snoU13,downstream_gene_variant,,ENST00000459372,;	A	ENST00000251921	Transcript	missense_variant	722/1888	305/1218	102/405	C/F	tGt/tTt		1		-1	NXPE1	HGNC	HGNC:28527	protein_coding	YES	CCDS8372.1	ENSP00000251921	Q8N323		UPI000013CD22	NM_152315.3	deleterious(0)		3/6		Pfam_domain:PF06312,hmmpanther:PTHR16165,hmmpanther:PTHR16165:SF4																	MODERATE	1	SNV	1			1										PASS		rs1326349872	.												A	3	1	28	114530277	114530277	C	A	1	0	0	0	0	1	0	0	0	10862	478	17	2		2	NXPE1	11	114530277	Missense_Mutation	SNP	C	C3L-01889_TP	13556973	114530277	20556345	117	8225											
OR4D5	0	.	GRCh38	chr11	123940426	123940426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattccccatggacaaggcCgtctctgtgctatacacaat	11	10	7	13	1	1	0	0	0	1	0	3	1	2	1	3	2	2	1	3	2	4	3			C3L-01889_TP	C3L-01889_NB	C	C																c.810C>T	p.=	p.A270A	ENST00000307033	1/1	198	152	46	200	200	0	strelka-varscan-mutect	OR4D5,synonymous_variant,p.=,ENST00000307033,NM_001001965.1;OR6T1,downstream_gene_variant,,ENST00000321252,NM_001005187.1;	T	ENST00000307033	Transcript	synonymous_variant	884/1095	810/957	270/318	A	gcC/gcT	COSM3687142	1		1	OR4D5	HGNC	HGNC:14852	protein_coding	YES	CCDS31699.1	ENSP00000305970	Q8NGN0	A0A126GVD9	UPI000003F227	NM_001001965.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF73,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						LOW	1	SNV			1	1										PASS		rs1244893409	.												T	2	4	28	123940426	123940426	C	T	1	0	0	0	0	0	0	0	1	11134	639	23	1		1	OR4D5	11	123940426	Silent	SNP	C	C3L-01889_TP	9410149	123940426	11146196	118	8226											
ROBO3	0	.	GRCh38	chr11	124880520	124880520	+	Missense_Mutation	SNP	G	G	T																															ctcttccaggggctccagcaGctctaggggctcccggggcc																								novel		C3L-01889_TP	C3L-01889_NB	G	G																c.4061G>T	p.Ser1354Ile	p.S1354I	ENST00000397801	27/28	120	95	25	112	112	0	strelka-varscan-mutect	ROBO3,missense_variant,p.Ser1354Ile,ENST00000397801,NM_022370.3;ROBO3,missense_variant,p.Ser1332Ile,ENST00000538940,;ROBO3,missense_variant,p.Ser117Ile,ENST00000543966,;ROBO4,downstream_gene_variant,,ENST00000306534,NM_019055.5;ROBO4,downstream_gene_variant,,ENST00000533054,NM_001301088.1;RP11-664I21.5,upstream_gene_variant,,ENST00000524453,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525482,;ROBO3,downstream_gene_variant,,ENST00000528820,;ROBO3,downstream_gene_variant,,ENST00000528144,;ROBO3,downstream_gene_variant,,ENST00000531075,;ROBO3,downstream_gene_variant,,ENST00000526551,;ROBO3,downstream_gene_variant,,ENST00000532472,;ROBO3,downstream_gene_variant,,ENST00000531545,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527245,;ROBO3,non_coding_transcript_exon_variant,,ENST00000529658,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525448,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527196,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525304,;ROBO4,downstream_gene_variant,,ENST00000534407,;ROBO3,downstream_gene_variant,,ENST00000534598,;ROBO3,downstream_gene_variant,,ENST00000524971,;ROBO3,downstream_gene_variant,,ENST00000528068,;ROBO3,downstream_gene_variant,,ENST00000531888,;ROBO3,downstream_gene_variant,,ENST00000530647,;ROBO3,downstream_gene_variant,,ENST00000531119,;	T	ENST00000397801	Transcript	missense_variant	4253/4569	4061/4161	1354/1386	S/I	aGc/aTc		1		1	ROBO3	HGNC	HGNC:13433	protein_coding	YES	CCDS44755.1	ENSP00000380903	Q96MS0		UPI000035AA82	NM_022370.3	deleterious_low_confidence(0.02)		27/28		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	124880520	124880520	G	T	1	0	0	0	0	1	0	0	0	13693	971	34	2		2	ROBO3	11	124880520	Missense_Mutation	SNP	G	C3L-01889_TP	940094	124880520	10206102	119	8227	187	2									
ROBO3	0	.	GRCh38	chr11	124880521	124880521	+	Silent	SNP	C	C	T																															tcttccaggggctccagcagCtctaggggctcccggggccc																								novel		C3L-01889_TP	C3L-01889_NB	C	C																c.4062C>T	p.=	p.S1354S	ENST00000397801	27/28	125	98	27	108	108	0	strelka-varscan-mutect	ROBO3,synonymous_variant,p.=,ENST00000397801,NM_022370.3;ROBO3,synonymous_variant,p.=,ENST00000538940,;ROBO3,synonymous_variant,p.=,ENST00000543966,;ROBO4,downstream_gene_variant,,ENST00000306534,NM_019055.5;ROBO4,downstream_gene_variant,,ENST00000533054,NM_001301088.1;RP11-664I21.5,upstream_gene_variant,,ENST00000524453,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525482,;ROBO3,downstream_gene_variant,,ENST00000528820,;ROBO3,downstream_gene_variant,,ENST00000528144,;ROBO3,downstream_gene_variant,,ENST00000531075,;ROBO3,downstream_gene_variant,,ENST00000526551,;ROBO3,downstream_gene_variant,,ENST00000532472,;ROBO3,downstream_gene_variant,,ENST00000531545,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527245,;ROBO3,non_coding_transcript_exon_variant,,ENST00000529658,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525448,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527196,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525304,;ROBO4,downstream_gene_variant,,ENST00000534407,;ROBO3,downstream_gene_variant,,ENST00000534598,;ROBO3,downstream_gene_variant,,ENST00000524971,;ROBO3,downstream_gene_variant,,ENST00000528068,;ROBO3,downstream_gene_variant,,ENST00000531888,;ROBO3,downstream_gene_variant,,ENST00000530647,;ROBO3,downstream_gene_variant,,ENST00000531119,;	T	ENST00000397801	Transcript	synonymous_variant	4254/4569	4062/4161	1354/1386	S	agC/agT		1		1	ROBO3	HGNC	HGNC:13433	protein_coding	YES	CCDS44755.1	ENSP00000380903	Q96MS0		UPI000035AA82	NM_022370.3			27/28		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	28	124880521	124880521	C	T	1	0	0	0	0	0	0	0	1	13693	796	28	3		3	ROBO3	11	124880521	Silent	SNP	C	C3L-01889_TP	1	124880521	10206101	120	8228	187	2									
KDM5A	0	.	GRCh38	chr12	285519	285519	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatgaaggaaggaggtggTgctggacctgggctaactgg	10	9	17	5	0	0	1	0	1	0	0	0	4	0	4	1	7	2	2	1	7	4	2	novel		C3L-01889_TP	C3L-01889_NB	T	T																c.5010A>C	p.=	p.A1670A	ENST00000399788	28/28	269	194	75	310	310	0	strelka-varscan-mutect	KDM5A,synonymous_variant,p.=,ENST00000399788,NM_001042603.2;KDM5A,non_coding_transcript_exon_variant,,ENST00000540838,;	G	ENST00000399788	Transcript	synonymous_variant	5373/10763	5010/5073	1670/1690	A	gcA/gcC		1		-1	KDM5A	HGNC	HGNC:9886	protein_coding	YES	CCDS41736.1	ENSP00000382688	P29375		UPI0000DB2E73	NM_001042603.2			28/28		Low_complexity_(Seg):seg,hmmpanther:PTHR10694:SF17,hmmpanther:PTHR10694																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	28	285519	285519	T	G	1	0	0	0	0	0	0	0	1	8051	1683	59	5		5	KDM5A	12	285519	Silent	SNP	T	C3L-01889_TP		285519	132989790	121	8229											
GRIN2B	0	.	GRCh38	chr12	13563516	13563516	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttgcaagcctcacacCggatgcacgcctgcctgccc	6	9	8	18	2	2	0	1	0	1	0	2	1	2	1	5	1	5	2	5	1	1	2	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.3722G>T	p.Arg1241Leu	p.R1241L	ENST00000609686	13/13	245	193	52	234	234	0	strelka-varscan-mutect	GRIN2B,missense_variant,p.Arg1241Leu,ENST00000609686,NM_000834.3;GRIN2B,intron_variant,,ENST00000637214,;GRIN2B,non_coding_transcript_exon_variant,,ENST00000628166,;GRIN2B,upstream_gene_variant,,ENST00000636207,;	A	ENST00000609686	Transcript	missense_variant	4176/30355	3722/4455	1241/1484	R/L	cGg/cTg		1		-1	GRIN2B	HGNC	HGNC:4586	protein_coding	YES	CCDS8662.1	ENSP00000477455	Q13224		UPI000013026C	NM_000834.3	deleterious(0)		13/13		Pfam_domain:PF10565																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	13563516	13563516	C	A	1	0	0	0	0	1	0	0	0	6662	652	23	1		1	GRIN2B	12	13563516	Missense_Mutation	SNP	C	C3L-01889_TP	13277997	13563516	119711793	122	8230											
KRT77	0	.	GRCh38	chr12	52697783	52697783	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgcctccgcaggtcaccGatgtagttctccaagagggg	8	8	12	13	2	2	1	1	0	1	1	4	2	3	1	5	3	1	3	5	3	2	2	rs760106782		C3L-01889_TP	C3L-01889_NB	G	G																c.657C>T	p.=	p.I219I	ENST00000341809	2/9	357	274	83	340	340	0	strelka-varscan-mutect	KRT77,synonymous_variant,p.=,ENST00000341809,NM_175078.2;RP11-641A6.3,downstream_gene_variant,,ENST00000547533,;KRT77,missense_variant,p.Arg248Trp,ENST00000553168,;KRT77,upstream_gene_variant,,ENST00000550823,;	A	ENST00000341809	Transcript	synonymous_variant	686/3305	657/1737	219/578	I	atC/atT	rs760106782,COSM4042918	1		-1	KRT77	HGNC	HGNC:20411	protein_coding	YES	CCDS8837.1	ENSP00000342710	Q7Z794		UPI00001D797A	NM_175078.2			2/9		hmmpanther:PTHR23239:SF87,hmmpanther:PTHR23239,Pfam_domain:PF00038,SMART_domains:SM01391											0,1						LOW	1	SNV	1		0,1	1										PASS		rs760106782	.												A	2	1	28	52697783	52697783	G	A	1	0	0	0	0	0	0	0	1	8372	1048	37	1		1	KRT77	12	52697783	Silent	SNP	G	C3L-01889_TP	39134267	52697783	80577526	123	8231											
PPP1CC	0	.	GRCh38	chr12	110731801	110731801	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggtgcttcaagttctagTaggataggctgactgagaaa	12	11	13	5	0	2	2	1	2	1	1	2	4	2	3	0	3	1	4	0	3	5	5	novel		C3L-01889_TP	C3L-01889_NB	T	T																c.156A>T	p.=	p.L52L	ENST00000340766	2/8	85	53	32	84	84	0	strelka-varscan-mutect	PPP1CC,synonymous_variant,p.=,ENST00000335007,NM_002710.3;PPP1CC,synonymous_variant,p.=,ENST00000546933,;PPP1CC,synonymous_variant,p.=,ENST00000550991,;PPP1CC,synonymous_variant,p.=,ENST00000551676,;PPP1CC,synonymous_variant,p.=,ENST00000340766,NM_001244974.1;PPP1CC,downstream_gene_variant,,ENST00000551690,;PPP1CC,synonymous_variant,p.=,ENST00000620030,;PPP1CC,upstream_gene_variant,,ENST00000550261,;	A	ENST00000340766	Transcript	synonymous_variant	388/1472	156/1014	52/337	L	ctA/ctT		1		-1	PPP1CC	HGNC	HGNC:9283	protein_coding	YES	CCDS58279.1	ENSP00000341779	P36873		UPI000002B16F	NM_001244974.1			2/8		hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF255,Pfam_domain:PF16891,Gene3D:3.60.21.10,SMART_domains:SM00156,Superfamily_domains:SSF56300																	LOW	1	SNV	2			1										PASS		rs1164020939	.												A	2	1	28	110731801	110731801	T	A	1	0	0	0	0	0	0	0	1	12461	1625	57	4		4	PPP1CC	12	110731801	Silent	SNP	T	C3L-01889_TP	58034018	110731801	22543508	124	8232											
ORAI1	0	.	GRCh38	chr12	121641281	121641281	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggccttctccaccgtcAtcggcacgctgctcttccta	4	11	8	18	3	3	0	1	0	2	0	6	0	4	0	5	2	1	3	5	2	1	3	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.355A>T	p.Ile119Phe	p.I119F	ENST00000617316	2/2	322	208	114	362	362	0	strelka-varscan-mutect	ORAI1,missense_variant,p.Ile119Phe,ENST00000617316,NM_032790.3;ORAI1,3_prime_UTR_variant,,ENST00000611718,;	T	ENST00000617316	Transcript	missense_variant	742/2138	355/717	119/238	I/F	Atc/Ttc		1		1	ORAI1	HGNC	HGNC:25896	protein_coding	YES		ENSP00000482568		A0A0B4J2E8	UPI0000036A44	NM_032790.3	tolerated(0.13)		2/2		Pfam_domain:PF07856,hmmpanther:PTHR31501,hmmpanther:PTHR31501:SF3,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1266070960	.												T	3	4	28	121641281	121641281	A	T	1	0	0	0	0	1	0	0	0	11323	217	8	4		4	ORAI1	12	121641281	Missense_Mutation	SNP	A	C3L-01889_TP	10909480	121641281	11634028	125	8233											
PIWIL1	0	.	GRCh38	chr12	130347064	130347064	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataatattattttcaggaggTatgtgttttatttcaacatt	12	20	6	3	0	2	0	2	0	0	0	2	1	2	1	0	2	1	2	0	2	6	10	novel		C3L-01889_TP	C3L-01889_NB	T	T																c.653+2T>A		p.X218_splice	ENST00000245255		195	162	33	122	122	0	strelka-varscan-mutect	PIWIL1,splice_donor_variant,,ENST00000245255,NM_004764.4,NM_001190971.1;PIWIL1,downstream_gene_variant,,ENST00000542723,;PIWIL1,downstream_gene_variant,,ENST00000546060,;PIWIL1,downstream_gene_variant,,ENST00000535956,;PIWIL1,downstream_gene_variant,,ENST00000539995,;PIWIL1,downstream_gene_variant,,ENST00000539400,;RP11-200K12.3,downstream_gene_variant,,ENST00000624997,;PIWIL1,splice_donor_variant,,ENST00000540672,;	A	ENST00000245255	Transcript	splice_donor_variant	-/3897	653/2586	218/861				1		1	PIWIL1	HGNC	HGNC:9007	protein_coding	YES	CCDS9268.1	ENSP00000245255	Q96J94	A0A024RBS5	UPI000007059F	NM_004764.4,NM_001190971.1				6/20																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	28	130347064	130347064	T	A	1	0	0	0	0	0	0	1	0	12053	1652	57	4		4	PIWIL1	12	130347064	Splice_Site	SNP	T	C3L-01889_TP	8705783	130347064	2928245	126	8234											
LATS2	0	.	GRCh38	chr13	21045908	21045908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaagtgtcactgtttggtCctgcgggtagcccctgaacc	6	10	14	11	1	1	1	1	1	0	0	2	2	2	2	4	3	3	2	4	3	3	2			C3L-01889_TP	C3L-01889_NB	C	C																c.119G>T	p.Gly40Val	p.G40V	ENST00000382592	2/8	335	248	87	316	312	4	strelka-varscan-mutect	LATS2,missense_variant,p.Gly40Val,ENST00000382592,NM_014572.2;	A	ENST00000382592	Transcript	missense_variant	525/5511	119/3267	40/1088	G/V	gGa/gTa	COSM12866	1		-1	LATS2	HGNC	HGNC:6515	protein_coding	YES	CCDS9294.1	ENSP00000372035	Q9NRM7	A0A024RDM3	UPI000013DBF5	NM_014572.2	deleterious_low_confidence(0.01)		2/8													1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	28	21045908	21045908	C	A	1	0	0	0	0	1	0	0	0	8552	855	30	2		2	LATS2	13	21045908	Missense_Mutation	SNP	C	C3L-01889_TP		21045908	93318420	127	8235											
ATP12A	0	.	GRCh38	chr13	24690392	24690392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatcccttcagagcagctgGtggtgggggacattgtggag	7	9	16	9	0	1	1	1	0	0	1	2	3	2	3	2	5	2	2	2	5	0	2	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.601G>A	p.Val201Met	p.V201M	ENST00000218548	6/23	132	103	29	105	104	1	strelka-varscan-mutect	ATP12A,missense_variant,p.Val201Met,ENST00000381946,NM_001676.5;ATP12A,missense_variant,p.Val201Met,ENST00000218548,NM_001185085.1;	A	ENST00000218548	Transcript	missense_variant	934/3732	601/3138	201/1045	V/M	Gtg/Atg		1		1	ATP12A	HGNC	HGNC:13816	protein_coding	YES	CCDS53858.1	ENSP00000218548	P54707		UPI000006D1DE	NM_001185085.1	deleterious(0)		6/23		hmmpanther:PTHR24093:SF282,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01494,Pfam_domain:PF00122,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01106,Superfamily_domains:0049471																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	24690392	24690392	G	A	1	0	0	0	0	1	0	0	0	1274	1261	44	3		3	ATP12A	13	24690392	Missense_Mutation	SNP	G	C3L-01889_TP	3644484	24690392	89673936	128	8236											
AKAP11	0	.	GRCh38	chr13	42301278	42301278	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttcagaacacaatccAggtaatcagaatgattttaa	16	12	5	8	0	2	3	2	1	0	2	3	3	3	3	2	1	2	1	2	1	6	5	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.2532A>T	p.=	p.P844P	ENST00000025301	8/13	138	88	50	160	159	1	strelka-varscan-mutect	AKAP11,synonymous_variant,p.=,ENST00000025301,NM_016248.3;	T	ENST00000025301	Transcript	synonymous_variant	2707/9920	2532/5706	844/1901	P	ccA/ccT		1		1	AKAP11	HGNC	HGNC:369	protein_coding	YES	CCDS9383.1	ENSP00000025301	Q9UKA4		UPI0000125747	NM_016248.3			8/13		hmmpanther:PTHR10226:SF3,hmmpanther:PTHR10226																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	28	42301278	42301278	A	T	1	0	0	0	0	0	0	0	1	530	175	7	4		4	AKAP11	13	42301278	Silent	SNP	A	C3L-01889_TP	17610886	42301278	72063050	129	8237											
NUFIP1	0	.	GRCh38	chr13	44949744	44949744	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctcactctctgacccTgaaagactgccatagctact	9	11	7	14	0	3	3	1	2	2	1	4	3	3	3	2	1	3	2	2	1	3	2	rs563561324		C3L-01889_TP	C3L-01889_NB	T	T																c.1116A>G	p.=	p.S372S	ENST00000379161	8/10	88	83	5	89	89	0	varscan-mutect	NUFIP1,synonymous_variant,p.=,ENST00000379161,NM_012345.2;	C	ENST00000379161	Transcript	synonymous_variant	1163/3492	1116/1488	372/495	S	tcA/tcG	rs563561324,COSM403671	1		-1	NUFIP1	HGNC	HGNC:8057	protein_coding	YES	CCDS9393.1	ENSP00000368459	Q9UHK0		UPI000013C768	NM_012345.2			8/10		Low_complexity_(Seg):seg,hmmpanther:PTHR13309											0,1						LOW	1	SNV	1		0,1	1										PASS		rs563561324	.												C	2	2	28	44949744	44949744	T	C	1	0	0	0	0	0	0	0	1	10812	1567	55	5		5	NUFIP1	13	44949744	Silent	SNP	T	C3L-01889_TP	2648466	44949744	69414584	130	8238											
KLHL1	0	.	GRCh38	chr13	69839103	69839103	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttcattgcttctagaatCagcttttgacattccagatc	10	17	5	9	0	3	3	2	1	1	2	5	3	4	3	1	0	2	2	1	0	3	8	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.1287G>T	p.=	p.L429L	ENST00000377844	6/11	111	85	26	129	129	0	strelka-varscan-mutect	KLHL1,synonymous_variant,p.=,ENST00000377844,NM_020866.2;KLHL1,synonymous_variant,p.=,ENST00000545028,NM_001286725.1;	A	ENST00000377844	Transcript	synonymous_variant	2047/4115	1287/2247	429/748	L	ctG/ctT		1		-1	KLHL1	HGNC	HGNC:6352	protein_coding	YES	CCDS9445.1	ENSP00000367075	Q9NR64		UPI000004B136	NM_020866.2			6/11		hmmpanther:PTHR24412:SF75,hmmpanther:PTHR24412																	LOW	1	SNV	1			1										PASS		rs1205461810	.												A	2	1	28	69839103	69839103	C	A	1	0	0	0	0	0	0	0	1	8229	813	29	2		2	KLHL1	13	69839103	Silent	SNP	C	C3L-01889_TP	24889359	69839103	44525225	131	8239											
UGGT2	0	.	GRCh38	chr13	95854351	95854351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttaaaagatgtgatgccCagtatcctgttttccagaaa	12	13	8	8	0	1	3	0	1	1	2	3	3	3	3	3	0	1	2	3	0	4	4	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.4133G>T	p.Trp1378Leu	p.W1378L	ENST00000376747	35/39	113	83	30	125	125	0	strelka-varscan-mutect	UGGT2,missense_variant,p.Trp1378Leu,ENST00000376747,NM_020121.3;UGGT2,3_prime_UTR_variant,,ENST00000621375,;UGGT2,downstream_gene_variant,,ENST00000462472,;	A	ENST00000376747	Transcript	missense_variant	4204/4832	4133/4551	1378/1516	W/L	tGg/tTg		1		-1	UGGT2	HGNC	HGNC:15664	protein_coding	YES	CCDS9480.1	ENSP00000365938	Q9NYU1		UPI00001FC9AA	NM_020121.3	deleterious(0)		35/39		Gene3D:3.90.550.10,Pfam_domain:PF01501,hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF1,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	95854351	95854351	C	A	1	0	0	0	0	1	0	0	0	17467	595	21	2		2	UGGT2	13	95854351	Missense_Mutation	SNP	C	C3L-01889_TP	26015248	95854351	18509977	132	8240											
HS6ST3	0	.	GRCh38	chr13	96091425	96091425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagtgcacctgccaccGgcctggcaagaaggagacgt	12	4	14	11	2	0	3	0	0	0	3	0	5	0	3	4	3	2	2	4	3	4	0	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.563G>T	p.Arg188Leu	p.R188L	ENST00000376705	1/2	195	132	63	170	170	0	strelka-varscan-mutect	HS6ST3,missense_variant,p.Arg188Leu,ENST00000376705,NM_153456.3;	T	ENST00000376705	Transcript	missense_variant	587/7804	563/1416	188/471	R/L	cGg/cTg		1		1	HS6ST3	HGNC	HGNC:19134	protein_coding	YES	CCDS9481.1	ENSP00000365895	Q8IZP7		UPI00001AF933	NM_153456.3	deleterious(0.02)		1/2		hmmpanther:PTHR12812,hmmpanther:PTHR12812:SF3,Pfam_domain:PF03567,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	96091425	96091425	G	T	1	0	0	0	0	1	0	0	0	7266	1116	39	1		1	HS6ST3	13	96091425	Missense_Mutation	SNP	G	C3L-01889_TP	237074	96091425	18272903	133	8241											
OR4K5	0	.	GRCh38	chr14	19921028	19921028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcatgagccgaaggacatGcactgtcttggtaatgatct	11	11	10	9	1	3	2	1	2	2	0	3	4	3	3	1	2	2	2	1	2	2	2	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.422G>T	p.Cys141Phe	p.C141F	ENST00000315915	1/1	275	260	15	287	287	0	strelka-mutect	OR4K5,missense_variant,p.Cys141Phe,ENST00000315915,NM_001005483.1;	T	ENST00000315915	Transcript	missense_variant	447/1078	422/972	141/323	C/F	tGc/tTc		1		1	OR4K5	HGNC	HGNC:14745	protein_coding	YES	CCDS32024.1	ENSP00000319511	Q8NGD3	A0A126GVN5	UPI0000061E9E	NM_001005483.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF46,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	28	19921028	19921028	G	T	1	0	0	0	0	1	0	0	0	11150	1319	46	2		2	OR4K5	14	19921028	Missense_Mutation	SNP	G	C3L-01889_TP		19921028	87122690	134	8242											
PPP2R3C	0	.	GRCh38	chr14	35116631	35116631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctataataaaaccggggaatGgtcttatagaattcatttgt	14	14	8	5	1	2	1	1	0	1	1	2	2	2	2	1	3	1	0	1	3	8	7	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.165C>T	p.=	p.T55T	ENST00000261475	2/13	113	87	26	99	99	0	strelka-varscan-mutect	PPP2R3C,synonymous_variant,p.=,ENST00000261475,NM_017917.2;PPP2R3C,synonymous_variant,p.=,ENST00000555644,;PPP2R3C,synonymous_variant,p.=,ENST00000557278,;PPP2R3C,synonymous_variant,p.=,ENST00000554361,;PPP2R3C,synonymous_variant,p.=,ENST00000555630,;PPP2R3C,synonymous_variant,p.=,ENST00000554563,;PPP2R3C,3_prime_UTR_variant,,ENST00000553282,;PPP2R3C,non_coding_transcript_exon_variant,,ENST00000557773,;PPP2R3C,non_coding_transcript_exon_variant,,ENST00000556254,;PPP2R3C,intron_variant,,ENST00000557217,NM_001305155.1;PPP2R3C,intron_variant,,ENST00000554222,NM_001305156.1;PPP2R3C,intron_variant,,ENST00000553273,;PPP2R3C,intron_variant,,ENST00000554265,;PPP2R3C,intron_variant,,ENST00000554899,;PPP2R3C,intron_variant,,ENST00000554488,;PPP2R3C,intron_variant,,ENST00000555726,;PPP2R3C,intron_variant,,ENST00000557288,;FAM177A1,downstream_gene_variant,,ENST00000555260,;	A	ENST00000261475	Transcript	synonymous_variant	519/1839	165/1362	55/453	T	acC/acT		1		-1	PPP2R3C	HGNC	HGNC:17485	protein_coding	YES	CCDS9654.1	ENSP00000261475	Q969Q6		UPI000006E6EC	NM_017917.2			2/13		hmmpanther:PTHR12085																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	28	35116631	35116631	G	A	1	0	0	0	0	0	0	0	1	12513	1335	47	3		3	PPP2R3C	14	35116631	Silent	SNP	G	C3L-01889_TP	15195603	35116631	71927087	135	8243											
GPR135	0	.	GRCh38	chr14	59463842	59463842	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtacaactggatttttgCgggcccacatggccacgtcc	10	9	10	12	2	0	0	0	0	0	0	1	1	1	1	3	3	3	1	3	3	3	3	rs201849909		C3L-01889_TP	C3L-01889_NB	C	C																c.1385G>C	p.Arg462Pro	p.R462P	ENST00000395116	1/1	159	123	36	153	153	0	strelka-varscan-mutect	GPR135,missense_variant,p.Arg462Pro,ENST00000395116,NM_022571.5;L3HYPDH,intron_variant,,ENST00000466522,;GPR135,missense_variant,p.Arg462Pro,ENST00000481661,;	G	ENST00000395116	Transcript	missense_variant	1501/4578	1385/1485	462/494	R/P	cGc/cCc	rs201849909,COSM311561	1		-1	GPR135	HGNC	HGNC:19991	protein_coding	YES	CCDS9738.1	ENSP00000378548	Q8IZ08		UPI0000046D5B	NM_022571.5	tolerated(0.25)		1/1		hmmpanther:PTHR22752,hmmpanther:PTHR22752:SF3											0,1						MODERATE	1	SNV			0,1	1										PASS		rs201849909	.												G	3	3	28	59463842	59463842	C	G	1	0	0	0	0	1	0	0	0	6530	768	27	4		4	GPR135	14	59463842	Missense_Mutation	SNP	C	C3L-01889_TP	24347211	59463842	47579876	136	8244											
FUT8	0	.	GRCh38	chr14	65733328	65733328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacttcgtggagtgatcctgGatatacattttctctctcag	8	15	8	10	1	2	1	1	1	2	0	6	3	3	3	1	2	1	0	1	2	2	5	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.1357G>T	p.Asp453Tyr	p.D453Y	ENST00000360689	10/11	103	93	10	86	86	0	strelka-varscan-mutect	FUT8,missense_variant,p.Asp453Tyr,ENST00000360689,NM_178155.2;FUT8,missense_variant,p.Asp453Tyr,ENST00000394586,NM_178156.2;FUT8,missense_variant,p.Asp324Tyr,ENST00000358307,;FUT8,missense_variant,p.Asp290Tyr,ENST00000557164,NM_004480.4;FUT8,3_prime_UTR_variant,,ENST00000342677,;	T	ENST00000360689	Transcript	missense_variant	3084/5166	1357/1728	453/575	D/Y	Gat/Tat		1		1	FUT8	HGNC	HGNC:4019	protein_coding	YES	CCDS9775.1	ENSP00000353910	Q9BYC5	Q546E0	UPI000000DCC9	NM_178155.2	deleterious(0)		10/11		PROSITE_profiles:PS51659,hmmpanther:PTHR13132,hmmpanther:PTHR13132:SF29,PIRSF_domain:PIRSF000472																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	65733328	65733328	G	T	1	0	0	0	0	1	0	0	0	5982	1174	41	2		2	FUT8	14	65733328	Missense_Mutation	SNP	G	C3L-01889_TP	6269486	65733328	41310390	137	8245											
ASB2	0	.	GRCh38	chr14	93939423	93939423	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgcggttggggtcggcGccgtgttgcagcagcagctc	4	8	17	12	6	0	0	0	0	0	0	3	0	0	0	1	4	4	6	1	4	0	2			C3L-01889_TP	C3L-01889_NB	G	G																c.1302C>T	p.=	p.G434G	ENST00000555019	8/10	215	202	13	191	191	0	strelka-varscan-mutect	ASB2,synonymous_variant,p.=,ENST00000555019,NM_001202429.1;ASB2,synonymous_variant,p.=,ENST00000315988,NM_016150.4;ASB2,synonymous_variant,p.=,ENST00000555507,;RP11-131H24.4,upstream_gene_variant,,ENST00000557646,;ASB2,non_coding_transcript_exon_variant,,ENST00000556337,;ASB2,non_coding_transcript_exon_variant,,ENST00000553883,;	A	ENST00000555019	Transcript	synonymous_variant	1733/2842	1302/1908	434/635	G	ggC/ggT	COSM4933412	1		-1	ASB2	HGNC	HGNC:16012	protein_coding	YES	CCDS55940.1	ENSP00000451575	Q96Q27	A0A024R6E7	UPI000013D23C	NM_001202429.1			8/10		Gene3D:1.25.40.20,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF33,SMART_domains:SM00248,Superfamily_domains:SSF48403											1						LOW	1	SNV	1		1	1										PASS		rs1185256349	.												A	2	1	28	93939423	93939423	G	A	1	0	0	0	0	0	0	0	1	1165	1074	38	1		1	ASB2	14	93939423	Silent	SNP	G	C3L-01889_TP	28206095	93939423	13104295	138	8246											
TNFAIP2	0	.	GRCh38	chr14	103130362	103130362	+	Frame_Shift_Del	DEL	G	G	-																															gagagcatcacgctggacttGggctcacagataaagcgggt																								novel		C3L-01889_TP	C3L-01889_NB	G	G																c.1148delG	p.Gly383AlafsTer4	p.G383Afs*4	ENST00000560869	6/12	146	114	32	113	113	0	sindel-varindel	TNFAIP2,frameshift_variant,p.Gly383AlafsTer4,ENST00000560869,;TNFAIP2,frameshift_variant,p.Gly383AlafsTer4,ENST00000333007,NM_006291.2;TNFAIP2,frameshift_variant,p.Gly76AlafsTer4,ENST00000560670,;TNFAIP2,upstream_gene_variant,,ENST00000559255,;TNFAIP2,downstream_gene_variant,,ENST00000558056,;TNFAIP2,downstream_gene_variant,,ENST00000559195,;TNFAIP2,3_prime_UTR_variant,,ENST00000559406,;TNFAIP2,3_prime_UTR_variant,,ENST00000560562,;TNFAIP2,non_coding_transcript_exon_variant,,ENST00000560428,;TNFAIP2,upstream_gene_variant,,ENST00000561156,;	-	ENST00000560869	Transcript	frameshift_variant	1785/4683	1146/1965	382/654	L/X	ttG/tt		1		1	TNFAIP2	HGNC	HGNC:11895	protein_coding	YES	CCDS9979.1	ENSP00000452634	Q03169		UPI0000164A41				6/12		hmmpanther:PTHR21292:SF4,hmmpanther:PTHR21292,Pfam_domain:PF06046																	HIGH	1	deletion	5	2		1										PASS		.	.												-	7	5	28	103130362	103130362	G	-	1	0	1	0	1	0	0	0	0	16747	1339	47	0		0	TNFAIP2	14	103130362	Frame_Shift_Del	DEL	G	C3L-01889_TP	9190939	103130362	3913356	139	8247	188	2									
TNFAIP2	0	.	GRCh38	chr14	103130364	103130364	+	Missense_Mutation	SNP	G	G	T																															gagcatcacgctggacttggGctcacagataaagcgggtgc																								novel		C3L-01889_TP	C3L-01889_NB	G	G																c.1148G>T	p.Gly383Val	p.G383V	ENST00000560869	6/12	162	127	35	120	120	0	strelka-mutect	TNFAIP2,missense_variant,p.Gly383Val,ENST00000560869,;TNFAIP2,missense_variant,p.Gly383Val,ENST00000333007,NM_006291.2;TNFAIP2,missense_variant,p.Gly76Val,ENST00000560670,;TNFAIP2,upstream_gene_variant,,ENST00000559255,;TNFAIP2,downstream_gene_variant,,ENST00000558056,;TNFAIP2,downstream_gene_variant,,ENST00000559195,;TNFAIP2,3_prime_UTR_variant,,ENST00000559406,;TNFAIP2,3_prime_UTR_variant,,ENST00000560562,;TNFAIP2,non_coding_transcript_exon_variant,,ENST00000560428,;TNFAIP2,upstream_gene_variant,,ENST00000561156,;	T	ENST00000560869	Transcript	missense_variant	1787/4683	1148/1965	383/654	G/V	gGc/gTc		1		1	TNFAIP2	HGNC	HGNC:11895	protein_coding	YES	CCDS9979.1	ENSP00000452634	Q03169		UPI0000164A41		deleterious(0)		6/12		hmmpanther:PTHR21292:SF4,hmmpanther:PTHR21292,Pfam_domain:PF06046																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	28	103130364	103130364	G	T	1	0	0	0	0	1	0	0	0	16747	1203	42	2		2	TNFAIP2	14	103130364	Missense_Mutation	SNP	G	C3L-01889_TP	2	103130364	3913354	140	8248	188	2									
KIF26A	0	.	GRCh38	chr14	104173224	104173224	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacctgcgggaggacccCgtgtgtggggcgcaggtgcg	4	7	20	10	4	0	0	0	0	0	0	0	2	0	2	3	5	3	2	3	5	1	1	rs376308267		C3L-01889_TP	C3L-01889_NB	C	C																c.1668C>A	p.=	p.P556P	ENST00000423312	8/15	79	57	22	71	71	0	strelka-varscan-mutect	KIF26A,synonymous_variant,p.=,ENST00000315264,;KIF26A,synonymous_variant,p.=,ENST00000423312,NM_015656.1;	A	ENST00000423312	Transcript	synonymous_variant	1668/5649	1668/5649	556/1882	P	ccC/ccA	rs376308267	1		1	KIF26A	HGNC	HGNC:20226	protein_coding	YES	CCDS45171.1	ENSP00000388241	Q9ULI4		UPI00006C145D	NM_015656.1			8/15		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407,SMART_domains:SM00129,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		rs376308267	.												A	2	1	28	104173224	104173224	C	A	1	0	0	0	0	0	0	0	1	8159	639	23	1		1	KIF26A	14	104173224	Silent	SNP	C	C3L-01889_TP	1042860	104173224	2870494	141	8249											
POTEB3	0	.	GRCh38	chr15	21439880	21439880	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgtggtctccagaagtGcccatgttgctcttgccgct	4	13	11	13	3	2	1	0	0	2	1	5	1	2	1	3	1	3	3	3	1	1	2	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.132C>A	p.=	p.G44G	ENST00000611217	1/11	466	408	58	430	430	0	varscan-mutect	POTEB3,synonymous_variant,p.=,ENST00000611217,NM_207355.3;POTEB3,synonymous_variant,p.=,ENST00000624267,;POTEB3,synonymous_variant,p.=,ENST00000612601,;	T	ENST00000611217	Transcript	synonymous_variant	180/1813	132/1746	44/581	G	ggC/ggA		1		-1	POTEB3	HGNC	HGNC:51240	protein_coding	YES	CCDS73690.1	ENSP00000483103	A0JP26,Q6S5H4		UPI0000197FCA	NM_207355.3			1/11																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	28	21439880	21439880	G	T	1	0	0	0	0	0	0	0	1	12375	1306	46	2		2	POTEB3	15	21439880	Silent	SNP	G	C3L-01889_TP		21439880	80551309	142	8250											
FAM189A1	0	.	GRCh38	chr15	29123389	29123389	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacggcctcctcctcgaggcGctcctcgttggtgacagcca	5	8	12	16	4	0	1	0	1	0	0	5	3	3	1	5	3	1	2	5	3	0	1	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.1570C>G	p.Arg524Gly	p.R524G	ENST00000261275	11/11	64	46	18	73	73	0	strelka-varscan-mutect	FAM189A1,missense_variant,p.Arg524Gly,ENST00000261275,NM_015307.1;FAM189A1,non_coding_transcript_exon_variant,,ENST00000560021,;	C	ENST00000261275	Transcript	missense_variant	1570/4705	1570/1620	524/539	R/G	Cgc/Ggc		1		-1	FAM189A1	HGNC	HGNC:29075	protein_coding	YES	CCDS45198.1	ENSP00000261275	O60320		UPI0001641C10	NM_015307.1	tolerated(0.12)		11/11		hmmpanther:PTHR17615,hmmpanther:PTHR17615:SF6																	MODERATE	1	SNV	5			1										PASS		rs1314160163	.												C	3	2	28	29123389	29123389	G	C	1	0	0	0	0	1	0	0	0	5367	1087	38	4		4	FAM189A1	15	29123389	Missense_Mutation	SNP	G	C3L-01889_TP	7683509	29123389	72867800	143	8251											
TRIP4	0	.	GRCh38	chr15	64387877	64387877	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggaagatggcggtggctgGggcggtgtccggggagccgc	4	5	24	8	4	0	1	0	0	0	1	1	3	1	3	2	10	1	1	2	10	1	0	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.14G>C	p.Gly5Ala	p.G5A	ENST00000261884	1/13	77	59	18	64	64	0	strelka-varscan-mutect	TRIP4,missense_variant,p.Gly5Ala,ENST00000261884,NM_016213.4;TRIP4,non_coding_transcript_exon_variant,,ENST00000557834,;TRIP4,non_coding_transcript_exon_variant,,ENST00000558442,;TRIP4,intron_variant,,ENST00000559565,;TRIP4,intron_variant,,ENST00000559833,;KIAA0101,upstream_gene_variant,,ENST00000558250,;KIAA0101,upstream_gene_variant,,ENST00000560234,;TRIP4,missense_variant,p.Gly5Ala,ENST00000560567,;TRIP4,missense_variant,p.Gly5Ala,ENST00000558820,;TRIP4,missense_variant,p.Gly5Ala,ENST00000560920,;	C	ENST00000261884	Transcript	missense_variant	74/2045	14/1746	5/581	G/A	gGg/gCg		1		1	TRIP4	HGNC	HGNC:12310	protein_coding	YES	CCDS10194.1	ENSP00000261884	Q15650		UPI0000035D96	NM_016213.4	tolerated_low_confidence(0.07)		1/13																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	28	64387877	64387877	G	C	1	0	0	0	0	1	0	0	0	17055	1232	43	4		4	TRIP4	15	64387877	Missense_Mutation	SNP	G	C3L-01889_TP	35264488	64387877	37603312	144	8252											
IGDCC3	0	.	GRCh38	chr15	65329840	65329840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggcggcctcctccttcCggcagtcacatggtgggctc	3	10	14	14	2	1	0	1	0	0	0	5	0	4	0	4	6	0	3	4	6	0	2	rs776056063		C3L-01889_TP	C3L-01889_NB	C	C																c.1883G>T	p.Arg628Leu	p.R628L	ENST00000327987	12/14	201	136	65	192	192	0	strelka-varscan-mutect	IGDCC3,missense_variant,p.Arg628Leu,ENST00000327987,NM_004884.3;IGDCC3,missense_variant,p.Arg491Leu,ENST00000558354,;IGDCC3,downstream_gene_variant,,ENST00000559058,;IGDCC3,downstream_gene_variant,,ENST00000559231,;	A	ENST00000327987	Transcript	missense_variant	2135/4479	1883/2445	628/814	R/L	cGg/cTg	rs776056063,COSM1749270	1		-1	IGDCC3	HGNC	HGNC:9700	protein_coding	YES	CCDS10205.1	ENSP00000332773	Q8IVU1		UPI000019908F	NM_004884.3	tolerated(0.25)		12/14		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF106											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs776056063	.												A	3	1	28	65329840	65329840	C	A	1	0	0	0	0	1	0	0	0	7474	652	23	1		1	IGDCC3	15	65329840	Missense_Mutation	SNP	C	C3L-01889_TP	941963	65329840	36661349	145	8253											
STRA6	0	.	GRCh38	chr15	74181334	74181334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcggtggcagcaggctgaGgtccatctggccaaggtgga	7	8	16	10	1	2	1	0	1	2	0	4	2	3	2	2	7	1	3	2	7	1	0	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.1762C>A	p.Leu588Ile	p.L588I	ENST00000563965	17/19	181	145	36	191	191	0	strelka-varscan-mutect	STRA6,missense_variant,p.Leu549Ile,ENST00000323940,NM_001142617.1;STRA6,missense_variant,p.Leu549Ile,ENST00000616000,NM_001142618.1;STRA6,missense_variant,p.Leu549Ile,ENST00000395105,NM_022369.3;STRA6,missense_variant,p.Leu540Ile,ENST00000423167,NM_001142619.1;STRA6,missense_variant,p.Leu541Ile,ENST00000416286,;STRA6,missense_variant,p.Leu549Ile,ENST00000449139,;STRA6,missense_variant,p.Leu586Ile,ENST00000535552,NM_001199040.1;STRA6,missense_variant,p.Leu588Ile,ENST00000563965,NM_001199042.1;STRA6,missense_variant,p.Leu564Ile,ENST00000574278,NM_001199041.1;STRA6,missense_variant,p.Leu168Ile,ENST00000572785,;ISLR,downstream_gene_variant,,ENST00000249842,NM_005545.3;ISLR,downstream_gene_variant,,ENST00000395118,NM_201526.1;RP11-665J16.1,upstream_gene_variant,,ENST00000561647,;STRA6,non_coding_transcript_exon_variant,,ENST00000574439,;STRA6,non_coding_transcript_exon_variant,,ENST00000545137,;STRA6,downstream_gene_variant,,ENST00000569936,;STRA6,downstream_gene_variant,,ENST00000575272,;	T	ENST00000563965	Transcript	missense_variant	2101/2565	1762/2121	588/706	L/I	Ctc/Atc		1		-1	STRA6	HGNC	HGNC:30650	protein_coding	YES	CCDS55973.1	ENSP00000456609	Q9BX79		UPI00015F460B	NM_001199042.1	tolerated(0.85)		17/19		hmmpanther:PTHR21444:SF16,hmmpanther:PTHR21444,Pfam_domain:PF14752																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	74181334	74181334	G	T	1	0	0	0	0	1	0	0	0	15703	1000	35	2		2	STRA6	15	74181334	Missense_Mutation	SNP	G	C3L-01889_TP	8851494	74181334	27809855	146	8254											
IQGAP1	0	.	GRCh38	chr15	90441505	90441505	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttttgtttttttttttaGtacatgctgctgttattgct	4	27	6	4	0	0	0	0	0	0	0	0	0	0	0	0	0	4	6	0	0	3	12	rs752666392		C3L-01889_TP	C3L-01889_NB	G	G																c.650-1G>T		p.X217_splice	ENST00000268182		37	32	5	61	61	0	varscan-mutect	IQGAP1,splice_acceptor_variant,,ENST00000268182,NM_003870.3;IQGAP1,intron_variant,,ENST00000560738,;IQGAP1,downstream_gene_variant,,ENST00000560418,;IQGAP1,splice_acceptor_variant,,ENST00000633485,;	T	ENST00000268182	Transcript	splice_acceptor_variant	-/7233	650/4974	217/1657			rs752666392	1		1	IQGAP1	HGNC	HGNC:6110	protein_coding	YES	CCDS10362.1	ENSP00000268182	P46940	A0A024RC65	UPI000012D863	NM_003870.3				7/37																		HIGH	1	SNV	1			1										PASS		rs752666392	.												T	5	4	28	90441505	90441505	G	T	1	0	0	0	0	0	0	1	0	7720	1043	36	2		2	IQGAP1	15	90441505	Splice_Site	SNP	G	C3L-01889_TP	16260171	90441505	11549684	147	8255											
COG7	0	.	GRCh38	chr16	23418755	23418755	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcttccatgtcgccatacTtcagctggtagggtttgtat	6	16	9	10	1	2	0	1	0	1	0	5	0	3	0	2	2	2	4	2	2	3	6	novel		C3L-01889_TP	C3L-01889_NB	T	T																c.1082A>G	p.Lys361Arg	p.K361R	ENST00000307149	8/17	395	289	106	370	370	0	strelka-varscan-mutect	COG7,missense_variant,p.Lys361Arg,ENST00000307149,NM_153603.3;RN7SKP23,downstream_gene_variant,,ENST00000625159,;COG7,upstream_gene_variant,,ENST00000567821,;	C	ENST00000307149	Transcript	missense_variant	1268/2926	1082/2313	361/770	K/R	aAg/aGg		1		-1	COG7	HGNC	HGNC:18622	protein_coding	YES	CCDS10610.1	ENSP00000305442	P83436	A0A0S2Z652	UPI0000127E42	NM_153603.3	tolerated(0.36)		8/17		hmmpanther:PTHR21443,Pfam_domain:PF10191																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	28	23418755	23418755	T	C	1	0	0	0	0	1	0	0	0	3451	1609	56	5		5	COG7	16	23418755	Missense_Mutation	SNP	T	C3L-01889_TP		23418755	66919590	148	8256											
NIP7	0	.	GRCh38	chr16	69341197	69341197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtataaagtttggataaaGcctggtgcagagcagtcctt	12	12	11	6	0	0	1	0	0	0	1	1	2	1	2	2	2	3	4	2	2	6	6	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.300G>A	p.=	p.K100K	ENST00000254940	4/5	132	90	42	139	139	0	strelka-varscan-mutect	NIP7,synonymous_variant,p.=,ENST00000254940,NM_016101.4;NIP7,synonymous_variant,p.=,ENST00000562523,;NIP7,synonymous_variant,p.=,ENST00000567202,;NIP7,intron_variant,,ENST00000254941,NM_001199434.1;RP11-343C2.9,intron_variant,,ENST00000563634,;COG8,upstream_gene_variant,,ENST00000306875,NM_032382.4;COG8,upstream_gene_variant,,ENST00000562595,;COG8,upstream_gene_variant,,ENST00000562081,;NIP7,downstream_gene_variant,,ENST00000569637,;TMED6,downstream_gene_variant,,ENST00000288025,NM_144676.3;COG8,upstream_gene_variant,,ENST00000567493,;COG8,upstream_gene_variant,,ENST00000615447,;NIP7,non_coding_transcript_exon_variant,,ENST00000565034,;NIP7,non_coding_transcript_exon_variant,,ENST00000563364,;RP11-343C2.7,intron_variant,,ENST00000564737,;RP11-343C2.7,intron_variant,,ENST00000570293,;TMED6,downstream_gene_variant,,ENST00000568748,;NIP7,downstream_gene_variant,,ENST00000562131,;	A	ENST00000254940	Transcript	synonymous_variant	700/2402	300/543	100/180	K	aaG/aaA		1		1	NIP7	HGNC	HGNC:24328	protein_coding	YES	CCDS10877.1	ENSP00000254940	Q9Y221		UPI000006FFF0	NM_016101.4			4/5		PROSITE_profiles:PS50890,hmmpanther:PTHR23415,hmmpanther:PTHR23415:SF4,Pfam_domain:PF03657,Gene3D:2.30.130.10,PIRSF_domain:PIRSF017190,SMART_domains:SM00359,Superfamily_domains:SSF88697																	LOW	1	SNV	1			1										PASS		rs914626529	.												A	2	1	28	69341197	69341197	G	A	1	0	0	0	0	0	0	0	1	10456	962	34	3		3	NIP7	16	69341197	Silent	SNP	G	C3L-01889_TP	45922442	69341197	20997148	149	8257											
CNTNAP4	0	.	GRCh38	chr16	76553310	76553310	+	Missense_Mutation	SNP	C	C	A																															tgatgtggaccaggatactgCactggcaggtgcgcagggct																								novel		C3L-01889_TP	C3L-01889_NB	C	C																c.3470C>A	p.Ala1157Glu	p.A1157E	ENST00000611870	22/24	87	58	29	104	104	0	strelka-varscan-mutect	CNTNAP4,missense_variant,p.Ala1157Glu,ENST00000307431,;CNTNAP4,missense_variant,p.Ala1157Glu,ENST00000611870,NM_033401.3;CNTNAP4,missense_variant,p.Ala1109Glu,ENST00000377504,;CNTNAP4,missense_variant,p.Ala1160Glu,ENST00000476707,;CNTNAP4,missense_variant,p.Ala1109Glu,ENST00000622250,;CNTNAP4,missense_variant,p.Ala1084Glu,ENST00000478060,NM_138994.3;CNTNAP4,upstream_gene_variant,,ENST00000619533,;RP11-58C22.1,upstream_gene_variant,,ENST00000563764,;	A	ENST00000611870	Transcript	missense_variant	3855/4867	3470/3927	1157/1308	A/E	gCa/gAa		1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3	tolerated(0.23)		22/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	76553310	76553310	C	A	1	0	0	0	0	1	0	0	0	3431	710	25	2		2	CNTNAP4	16	76553310	Missense_Mutation	SNP	C	C3L-01889_TP	7212113	76553310	13785035	150	8258	189	2									
CNTNAP4	0	.	GRCh38	chr16	76553312	76553312	+	Missense_Mutation	SNP	C	C	A																															atgtggaccaggatactgcaCtggcaggtgcgcagggcttc																								rs368462428		C3L-01889_TP	C3L-01889_NB	C	C																c.3472C>A	p.Leu1158Met	p.L1158M	ENST00000611870	22/24	88	61	27	110	110	0	strelka-varscan-mutect	CNTNAP4,missense_variant,p.Leu1158Met,ENST00000307431,;CNTNAP4,missense_variant,p.Leu1158Met,ENST00000611870,NM_033401.3;CNTNAP4,missense_variant,p.Leu1110Met,ENST00000377504,;CNTNAP4,missense_variant,p.Leu1161Met,ENST00000476707,;CNTNAP4,missense_variant,p.Leu1110Met,ENST00000622250,;CNTNAP4,missense_variant,p.Leu1085Met,ENST00000478060,NM_138994.3;CNTNAP4,upstream_gene_variant,,ENST00000619533,;RP11-58C22.1,upstream_gene_variant,,ENST00000563764,;	A	ENST00000611870	Transcript	missense_variant	3857/4867	3472/3927	1158/1308	L/M	Ctg/Atg	rs368462428	1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3	deleterious(0.04)		22/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs368462428	.												A	3	1	28	76553312	76553312	C	A	1	0	0	0	0	1	0	0	0	3431	564	20	2		2	CNTNAP4	16	76553312	Missense_Mutation	SNP	C	C3L-01889_TP	2	76553312	13785033	151	8259	189	2									
TRPV1	0	.	GRCh38	chr17	3573863	3573891	+	Frame_Shift_Del	DEL	CGGGGGGCCTGCAGGCAGGCCCCCGCCAC	CGGGGGGCCTGCAGGCAGGCCCCCGCCAC	-																															caggctgttgtaggagctatCggggggcctgcaggcaggcc																								novel		C3L-01889_TP	C3L-01889_NB	CGGGGGGCCTGCAGGCAGGCCCCCGCCAC	CGGGGGGCCTGCAGGCAGGCCCCCGCCAC																c.1845_1873delGTGGCGGGGGCCTGCCTGCAGGCCCCCCG	p.Trp616Ter	p.W616*	ENST00000572705	14/17	267	204	63	296	296	0	sindel-pindel	TRPV1,frameshift_variant,p.Trp616Ter,ENST00000572705,NM_080704.3;TRPV1,frameshift_variant,p.Trp616Ter,ENST00000571088,NM_018727.5;TRPV1,frameshift_variant,p.Trp616Ter,ENST00000399759,NM_080705.3;TRPV1,frameshift_variant,p.Trp616Ter,ENST00000399756,NM_080706.3;TRPV1,frameshift_variant,p.Trp627Ter,ENST00000425167,;TRPV1,frameshift_variant,p.Trp606Ter,ENST00000576351,;TRPV1,frameshift_variant,p.Trp556Ter,ENST00000310522,;RP11-235E17.3,downstream_gene_variant,,ENST00000573568,;TRPV1,non_coding_transcript_exon_variant,,ENST00000574085,;TRPV1,non_coding_transcript_exon_variant,,ENST00000570742,;	-	ENST00000572705	Transcript	frameshift_variant	2120-2148/4166	1845-1873/2520	615-625/839	RWRGPACRPPD/RX	agGTGGCGGGGGCCTGCCTGCAGGCCCCCCGat/agat		1		-1	TRPV1	HGNC	HGNC:12716	protein_coding	YES	CCDS45576.1	ENSP00000459962	Q8NER1		UPI00005B2E0C	NM_080704.3			14/17		Pfam_domain:PF00520,TIGRFAM_domain:TIGR00870																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	28	3573863	3573863	CGGGGGGCCTGCAGGCAGGCCCCCGCCAC	-	1	0	1	0	1	0	0	0	0	17101	884	31	0		0	TRPV1	17	3573863	Frame_Shift_Del	DEL	CGGGGGGCCTGCAGGCAGGCCCCCGCCAC	C3L-01889_TP		3573863	79683578	152	8260											
DNAH9	0	.	GRCh38	chr17	11807731	11807731	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgcttccttctctttaGctgccatatcaatcgcatct	6	16	5	14	1	3	0	1	0	2	0	6	0	4	0	3	0	4	3	3	0	3	5	rs760328778		C3L-01889_TP	C3L-01889_NB	G	G																c.8421-1G>T		p.X2807_splice	ENST00000262442		47	29	18	47	47	0	strelka-varscan-mutect	DNAH9,splice_acceptor_variant,,ENST00000262442,NM_001372.3;DNAH9,splice_acceptor_variant,,ENST00000454412,;	T	ENST00000262442	Transcript	splice_acceptor_variant	-/13750	8421/13461	2807/4486			rs760328778	1		1	DNAH9	HGNC	HGNC:2953	protein_coding	YES	CCDS11160.1	ENSP00000262442	Q9NYC9		UPI0000141BA2	NM_001372.3				43/68																		HIGH	1	SNV	1			1										PASS		rs760328778	.												T	5	4	28	11807731	11807731	G	T	1	0	0	0	0	0	0	1	0	4423	985	34	2		2	DNAH9	17	11807731	Splice_Site	SNP	G	C3L-01889_TP	8233868	11807731	71449710	153	8261											
CWC25	0	.	GRCh38	chr17	38821008	38821008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgctcagcctcatgcttCtgctcggccttccacacttt	4	14	6	17	2	3	0	2	0	1	0	6	0	5	0	4	1	3	3	4	1	0	4	rs754703083		C3L-01889_TP	C3L-01889_NB	C	C																c.84G>T	p.Gln28His	p.Q28H	ENST00000614790	2/10	107	67	40	158	158	0	strelka-varscan-mutect	CWC25,missense_variant,p.Gln28His,ENST00000614790,NM_017748.4;MIR4727,upstream_gene_variant,,ENST00000622232,;CWC25,non_coding_transcript_exon_variant,,ENST00000619818,;CWC25,missense_variant,p.Gln28His,ENST00000619299,;CWC25,missense_variant,p.Gln28His,ENST00000622665,;	A	ENST00000614790	Transcript	missense_variant	382/3234	84/1278	28/425	Q/H	caG/caT	rs754703083	1		-1	CWC25	HGNC	HGNC:25989	protein_coding	YES	CCDS45663.1	ENSP00000478070	Q9NXE8		UPI000007081D	NM_017748.4	deleterious(0)		2/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16196,Pfam_domain:PF10197,SMART_domains:SM01083																	MODERATE	1	SNV	1			1										PASS		rs754703083	.												A	3	1	28	38821008	38821008	C	A	1	0	0	0	0	1	0	0	0	3879	912	32	2		2	CWC25	17	38821008	Missense_Mutation	SNP	C	C3L-01889_TP	27013277	38821008	44436433	154	8262											
SLC4A1	0	.	GRCh38	chr17	44258412	44258412	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagctgggaagggcaggtaCctaggcccttgtagaagctg	9	8	15	9	0	1	1	1	0	0	1	1	2	1	2	2	4	3	5	2	4	5	4	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.1087+1G>A		p.X363_splice	ENST00000262418		117	72	45	130	130	0	strelka-varscan-mutect	SLC4A1,splice_donor_variant,,ENST00000262418,NM_000342.3;SLC4A1,intron_variant,,ENST00000399246,;SLC4A1,downstream_gene_variant,,ENST00000471005,;SLC4A1,splice_donor_variant,,ENST00000497360,;SLC4A1,downstream_gene_variant,,ENST00000498270,;	T	ENST00000262418	Transcript	splice_donor_variant	-/4965	1087/2736	363/911				1		-1	SLC4A1	HGNC	HGNC:11027	protein_coding	YES	CCDS11481.1	ENSP00000262418	P02730		UPI00000375B8	NM_000342.3				10/19																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	28	44258412	44258412	C	T	1	0	0	0	0	0	0	1	0	14927	521	18	3		3	SLC4A1	17	44258412	Splice_Site	SNP	C	C3L-01889_TP	5437404	44258412	38999029	155	8263											
KIF18B	0	.	GRCh38	chr17	44935283	44935283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagctgatgagcacctcGaagtgcttctcctgctggcg	6	11	13	11	2	1	2	0	2	1	0	3	3	1	2	2	2	4	5	2	2	2	2	rs200332226		C3L-01889_TP	C3L-01889_NB	G	G																c.447C>A	p.Phe149Leu	p.F149L	ENST00000593135	3/16	63	59	4	62	62	0	strelka-mutect	KIF18B,missense_variant,p.Phe149Leu,ENST00000587309,NM_001264573.1;KIF18B,missense_variant,p.Phe149Leu,ENST00000593135,NM_001265577.1;KIF18B,missense_variant,p.Phe158Leu,ENST00000590129,;MIR6783,upstream_gene_variant,,ENST00000619908,;KIF18B,upstream_gene_variant,,ENST00000585687,;	T	ENST00000593135	Transcript	missense_variant	545/2745	447/2559	149/852	F/L	ttC/ttA	rs200332226,COSM4267808,COSM980079	1		-1	KIF18B	HGNC	HGNC:27102	protein_coding	YES	CCDS45709.2	ENSP00000465992		A0A0C4DGP5	UPI000192C418	NM_001265577.1	tolerated(0.1)		3/16		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF414,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs200332226	.												T	3	4	28	44935283	44935283	G	T	1	0	0	0	0	1	0	0	0	8145	1049	37	1		1	KIF18B	17	44935283	Missense_Mutation	SNP	G	C3L-01889_TP	676871	44935283	38322158	156	8264											
MRPL27	0	.	GRCh38	chr17	50373135	50373135	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgcgtcccattaccggcTgtccgggtcctcagcgccaa	6	9	10	16	4	1	0	1	0	0	0	4	0	4	0	5	2	4	1	5	2	3	2	novel		C3L-01889_TP	C3L-01889_NB	T	T																c.36A>T	p.=	p.T12T	ENST00000225969	1/4	534	472	62	220	220	0	strelka-varscan-mutect	MRPL27,synonymous_variant,p.=,ENST00000442592,;MRPL27,synonymous_variant,p.=,ENST00000503633,;MRPL27,synonymous_variant,p.=,ENST00000225969,NM_016504.2;EME1,upstream_gene_variant,,ENST00000393271,NM_001166131.1;EME1,upstream_gene_variant,,ENST00000338165,NM_152463.2;EME1,upstream_gene_variant,,ENST00000511648,;EME1,upstream_gene_variant,,ENST00000510246,;MRPL27,upstream_gene_variant,,ENST00000511860,;MRPL27,upstream_gene_variant,,ENST00000507088,;MRPL27,upstream_gene_variant,,ENST00000508200,;EME1,upstream_gene_variant,,ENST00000511519,;LRRC59,downstream_gene_variant,,ENST00000503118,;MRPL27,non_coding_transcript_exon_variant,,ENST00000514928,;EME1,upstream_gene_variant,,ENST00000510007,;EME1,upstream_gene_variant,,ENST00000511711,;EME1,upstream_gene_variant,,ENST00000513077,;	A	ENST00000225969	Transcript	synonymous_variant	80/716	36/447	12/148	T	acA/acT		1		-1	MRPL27	HGNC	HGNC:14483	protein_coding	YES	CCDS11564.1	ENSP00000225969	Q9P0M9		UPI00001342E1	NM_016504.2			1/4		hmmpanther:PTHR15893																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	28	50373135	50373135	T	A	1	0	0	0	0	0	0	0	1	9766	1594	55	4		4	MRPL27	17	50373135	Silent	SNP	T	C3L-01889_TP	5437852	50373135	32884306	157	8265											
WFIKKN2	0	.	GRCh38	chr17	50840165	50840165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgcacggcccggaacgtgGctggggtcctgagggctgat	5	7	17	12	3	0	2	0	2	0	0	1	3	1	3	3	6	2	3	3	6	1	0	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.877G>T	p.Ala293Ser	p.A293S	ENST00000311378	2/2	415	389	26	244	243	1	strelka-varscan-mutect	WFIKKN2,missense_variant,p.Ala293Ser,ENST00000311378,NM_175575.5;WFIKKN2,missense_variant,p.Ala200Ser,ENST00000426127,;RP11-506D12.5,non_coding_transcript_exon_variant,,ENST00000572491,;	T	ENST00000311378	Transcript	missense_variant	1405/3588	877/1731	293/576	A/S	Gct/Tct		1		1	WFIKKN2	HGNC	HGNC:30916	protein_coding	YES	CCDS11575.1	ENSP00000311184	Q8TEU8		UPI000004139B	NM_175575.5	tolerated(0.17)		2/2		PROSITE_profiles:PS50835,hmmpanther:PTHR10083:SF87,hmmpanther:PTHR10083,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	50840165	50840165	G	T	1	0	0	0	0	1	0	0	0	17916	1203	42	2		2	WFIKKN2	17	50840165	Missense_Mutation	SNP	G	C3L-01889_TP	467030	50840165	32417276	158	8266											
RNF43	0	.	GRCh38	chr17	58363592	58363592	+	Missense_Mutation	SNP	C	C	A																															ctggctcctcgctcacccgcCatccgagcctgcagaggcac																								novel		C3L-01889_TP	C3L-01889_NB	C	C																c.384G>T	p.Met128Ile	p.M128I	ENST00000584437	3/9	35	29	6	29	29	0	strelka-varscan-mutect	RNF43,start_lost,p.Met1?,ENST00000581868,;RNF43,start_lost,p.Met1?,ENST00000577625,;RNF43,missense_variant,p.Met128Ile,ENST00000584437,;RNF43,missense_variant,p.Met128Ile,ENST00000407977,;RNF43,missense_variant,p.Met128Ile,ENST00000577716,NM_017763.4;RNF43,missense_variant,p.Met87Ile,ENST00000583753,;TSPOAP1-AS1,intron_variant,,ENST00000583841,;RNF43,non_coding_transcript_exon_variant,,ENST00000582293,;	A	ENST00000584437	Transcript	missense_variant	2340/5575	384/2352	128/783	M/I	atG/atT		1		-1	RNF43	HGNC	HGNC:18505	protein_coding	YES	CCDS11607.1	ENSP00000463069	Q68DV7		UPI000022A469		tolerated(0.12)		3/9		hmmpanther:PTHR16200,hmmpanther:PTHR16200:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	58363592	58363592	C	A	1	0	0	0	0	1	0	0	0	13675	594	21	2		2	RNF43	17	58363592	Missense_Mutation	SNP	C	C3L-01889_TP	7523427	58363592	24893849	159	8267	190	2									
RNF43	0	.	GRCh38	chr17	58363593	58363593	+	Missense_Mutation	SNP	A	A	T																															tggctcctcgctcacccgccAtccgagcctgcagaggcaca																								novel		C3L-01889_TP	C3L-01889_NB	A	A																c.383T>A	p.Met128Lys	p.M128K	ENST00000584437	3/9	34	28	6	29	29	0	strelka-varscan-mutect	RNF43,start_lost,p.Met1?,ENST00000581868,;RNF43,start_lost,p.Met1?,ENST00000577625,;RNF43,missense_variant,p.Met128Lys,ENST00000584437,;RNF43,missense_variant,p.Met128Lys,ENST00000407977,;RNF43,missense_variant,p.Met128Lys,ENST00000577716,NM_017763.4;RNF43,missense_variant,p.Met87Lys,ENST00000583753,;TSPOAP1-AS1,intron_variant,,ENST00000583841,;RNF43,upstream_gene_variant,,ENST00000582293,;	T	ENST00000584437	Transcript	missense_variant	2339/5575	383/2352	128/783	M/K	aTg/aAg		1		-1	RNF43	HGNC	HGNC:18505	protein_coding	YES	CCDS11607.1	ENSP00000463069	Q68DV7		UPI000022A469		deleterious(0.01)		3/9		hmmpanther:PTHR16200,hmmpanther:PTHR16200:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	58363593	58363593	A	T	1	0	0	0	0	1	0	0	0	13675	217	8	4		4	RNF43	17	58363593	Missense_Mutation	SNP	A	C3L-01889_TP	1	58363593	24893848	160	8268	190	2									
HELZ	0	.	GRCh38	chr17	67194004	67194004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctcgctgcttgtgattcCcctaggtggtgggcggaaat	5	13	13	10	2	0	1	0	1	0	0	3	2	2	2	3	4	1	2	3	4	2	4	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.520G>A	p.Gly174Arg	p.G174R	ENST00000358691	9/33	397	164	233	214	213	1	strelka-varscan-mutect	HELZ,missense_variant,p.Gly174Arg,ENST00000358691,NM_014877.3;HELZ,missense_variant,p.Gly174Arg,ENST00000580168,;HELZ,intron_variant,,ENST00000580662,;HELZ,missense_variant,p.Gly174Arg,ENST00000579953,;HELZ,missense_variant,p.Gly174Arg,ENST00000417253,;HELZ,upstream_gene_variant,,ENST00000582864,;	T	ENST00000358691	Transcript	missense_variant	687/13810	520/5829	174/1942	G/R	Gga/Aga		1		-1	HELZ	HGNC	HGNC:16878	protein_coding	YES	CCDS42374.1	ENSP00000351524	P42694		UPI000013D7F5	NM_014877.3	deleterious(0)		9/33		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF365																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	67194004	67194004	C	T	1	0	0	0	0	1	0	0	0	6931	632	22	3		3	HELZ	17	67194004	Missense_Mutation	SNP	C	C3L-01889_TP	8830411	67194004	16063437	161	8269											
TMEM94	0	.	GRCh38	chr17	75498967	75498967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcagctgtggacacacaggGacagccacgtccactttggc	9	7	12	13	1	0	0	0	0	0	0	1	2	1	2	2	3	3	2	2	3	0	1	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.3883G>A	p.Asp1295Asn	p.D1295N	ENST00000314256	31/32	76	36	40	40	40	0	strelka-varscan-mutect	TMEM94,missense_variant,p.Asp1295Asn,ENST00000314256,NM_001321149.1,NM_014738.4;TMEM94,missense_variant,p.Asp1305Asn,ENST00000375248,;TMEM94,missense_variant,p.Asp946Asn,ENST00000579208,;TMEM94,missense_variant,p.Asp234Asn,ENST00000577247,;TMEM94,missense_variant,p.Asp142Asn,ENST00000584694,;CASKIN2,downstream_gene_variant,,ENST00000321617,NM_020753.4;CASKIN2,downstream_gene_variant,,ENST00000433559,NM_001142643.2;TMEM94,downstream_gene_variant,,ENST00000577245,;TMEM94,downstream_gene_variant,,ENST00000618984,;TMEM94,non_coding_transcript_exon_variant,,ENST00000585105,;TMEM94,non_coding_transcript_exon_variant,,ENST00000581085,;TMEM94,non_coding_transcript_exon_variant,,ENST00000579898,;TMEM94,downstream_gene_variant,,ENST00000581453,;TMEM94,downstream_gene_variant,,ENST00000581867,;CASKIN2,downstream_gene_variant,,ENST00000580021,;TMEM94,downstream_gene_variant,,ENST00000581723,;TMEM94,downstream_gene_variant,,ENST00000577194,;	A	ENST00000314256	Transcript	missense_variant	4277/5213	3883/4071	1295/1356	D/N	Gac/Aac		1		1	TMEM94	HGNC	HGNC:28983	protein_coding	YES	CCDS32732.1	ENSP00000313885	Q12767	A0A024R8S6	UPI0000139439	NM_001321149.1,NM_014738.4	tolerated(0.42)		31/32		hmmpanther:PTHR13219,hmmpanther:PTHR13219:SF6,Pfam_domain:PF00689,Gene3D:1.20.1110.10,Superfamily_domains:0049473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	75498967	75498967	G	A	1	0	0	0	0	1	0	0	0	16697	1174	41	3		3	TMEM94	17	75498967	Missense_Mutation	SNP	G	C3L-01889_TP	8304963	75498967	7758474	162	8270											
TRIM47	0	.	GRCh38	chr17	75876344	75876344	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggctgcgctgttcctccTgtcgccgcaggtcaccctgg	2	9	14	16	4	1	0	1	0	0	0	4	0	3	0	4	4	1	4	4	4	0	1	novel		C3L-01889_TP	C3L-01889_NB	T	T																c.920A>T	p.Gln307Leu	p.Q307L	ENST00000254816	3/6	246	102	144	127	127	0	strelka-varscan-mutect	TRIM47,missense_variant,p.Gln307Leu,ENST00000254816,NM_033452.2;TRIM65,downstream_gene_variant,,ENST00000591668,;TRIM47,downstream_gene_variant,,ENST00000586495,;TRIM47,upstream_gene_variant,,ENST00000585333,;TRIM65,downstream_gene_variant,,ENST00000592642,;RP11-552F3.9,upstream_gene_variant,,ENST00000586076,;TRIM47,3_prime_UTR_variant,,ENST00000587339,;TRIM47,non_coding_transcript_exon_variant,,ENST00000593089,;TRIM47,upstream_gene_variant,,ENST00000592942,;TRIM47,downstream_gene_variant,,ENST00000587774,;	A	ENST00000254816	Transcript	missense_variant	947/2266	920/1917	307/638	Q/L	cAg/cTg		1		-1	TRIM47	HGNC	HGNC:19020	protein_coding	YES	CCDS32737.1	ENSP00000254816	Q96LD4		UPI000013CE62	NM_033452.2	tolerated(0.31)		3/6		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103:SF328,hmmpanther:PTHR24103																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	75876344	75876344	T	A	1	0	0	0	0	1	0	0	0	17012	1580	55	4		4	TRIM47	17	75876344	Missense_Mutation	SNP	T	C3L-01889_TP	377377	75876344	7381097	163	8271											
WDR45B	0	.	GRCh38	chr17	82627257	82627257	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagaaaattctatttcaatAacagtcttcttcttcaggtc	12	16	5	8	0	6	1	2	0	4	1	7	1	6	1	0	1	1	1	0	1	6	8	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.279T>G	p.=	p.V93V	ENST00000392325	4/10	311	204	107	349	348	1	strelka-varscan-mutect	WDR45B,synonymous_variant,p.=,ENST00000392325,NM_019613.3;WDR45B,non_coding_transcript_exon_variant,,ENST00000571835,;WDR45B,non_coding_transcript_exon_variant,,ENST00000574828,;FOXK2,intron_variant,,ENST00000574694,;WDR45B,upstream_gene_variant,,ENST00000571767,;WDR45B,synonymous_variant,p.=,ENST00000572583,;WDR45B,synonymous_variant,p.=,ENST00000573616,;WDR45B,3_prime_UTR_variant,,ENST00000571817,;WDR45B,upstream_gene_variant,,ENST00000573656,;	C	ENST00000392325	Transcript	synonymous_variant	474/2587	279/1035	93/344	V	gtT/gtG		1		-1	WDR45B	HGNC	HGNC:25072	protein_coding	YES	CCDS11815.2	ENSP00000376139	Q5MNZ6	A0A024R8U4	UPI000020051D	NM_019613.3			4/10		hmmpanther:PTHR11227,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		rs1476732300	.												C	2	2	28	82627257	82627257	A	C	1	0	0	0	0	0	0	0	1	17858	349	13	5		5	WDR45B	17	82627257	Silent	SNP	A	C3L-01889_TP	6750913	82627257	630184	164	8272											
ANKRD30B	0	.	GRCh38	chr18	14840632	14840632	+	Frame_Shift_Del	DEL	G	G	-																															aattatgagtgtttacctgaGgctacatatcaaaaagaaat																								novel		C3L-01889_TP	C3L-01889_NB	G	G																c.2677delG	p.Ala893LeufsTer7	p.A893Lfs*7	ENST00000358984	31/36	148	113	35	150	150	0	sindel-varindel-pindel	ANKRD30B,frameshift_variant,p.Ala893LeufsTer7,ENST00000358984,NM_001145029.1;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000320584,;	-	ENST00000358984	Transcript	frameshift_variant	2856/4359	2676/4179	892/1392	E/X	gaG/ga		1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1			31/36		hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	28	14840632	14840632	G	-	1	0	1	0	1	0	0	0	0	762	991	35	0		0	ANKRD30B	18	14840632	Frame_Shift_Del	DEL	G	C3L-01889_TP		14840632	65532653	165	8273											
BOD1L2	0	.	GRCh38	chr18	57147383	57147383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgggccagcgggggcggcgGccccatcaacccggcctcgt	4	3	16	18	6	1	0	1	0	0	0	2	0	1	0	6	6	2	0	6	6	1	0	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.71G>T	p.Gly24Val	p.G24V	ENST00000585477	1/1	59	34	25	74	74	0	strelka-varscan-mutect	BOD1L2,missense_variant,p.Gly24Val,ENST00000585477,NM_001257964.1;CTD-2526M8.3,upstream_gene_variant,,ENST00000590942,;	T	ENST00000585477	Transcript	missense_variant	322/3239	71/519	24/172	G/V	gGc/gTc		1		1	BOD1L2	HGNC	HGNC:28505	protein_coding	YES	CCDS59322.1	ENSP00000467843	Q8IYS8		UPI000006F702	NM_001257964.1	tolerated_low_confidence(0.07)		1/1		hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF5,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		rs1291210995	.												T	3	4	28	57147383	57147383	G	T	1	0	0	0	0	1	0	0	0	1640	1203	42	2		2	BOD1L2	18	57147383	Missense_Mutation	SNP	G	C3L-01889_TP	42306751	57147383	23225902	166	8274											
CD226	0	.	GRCh38	chr18	69873203	69873203	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacaacaacaataaaacTgtccctccagccacaaagag	20	4	4	13	0	0	1	0	0	0	1	2	1	2	1	3	0	5	0	3	0	7	1	novel		C3L-01889_TP	C3L-01889_NB	T	T																c.771A>T	p.=	p.T257T	ENST00000280200	5/7	276	206	70	283	283	0	strelka-varscan-mutect	CD226,synonymous_variant,p.=,ENST00000280200,NM_006566.3;CD226,synonymous_variant,p.=,ENST00000581982,NM_001303619.1;CD226,synonymous_variant,p.=,ENST00000582621,NM_001303618.1;CD226,synonymous_variant,p.=,ENST00000579496,;CD226,synonymous_variant,p.=,ENST00000577287,;CD226,intron_variant,,ENST00000578928,;	A	ENST00000280200	Transcript	synonymous_variant	1040/12319	771/1011	257/336	T	acA/acT		1		-1	CD226	HGNC	HGNC:16961	protein_coding	YES	CCDS11997.1	ENSP00000280200	Q15762		UPI000013DC05	NM_006566.3			5/7		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF58																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	28	69873203	69873203	T	A	1	0	0	0	0	0	0	0	1	2689	1567	55	4		4	CD226	18	69873203	Silent	SNP	T	C3L-01889_TP	12725820	69873203	10500082	167	8275											
NETO1	0	.	GRCh38	chr18	72794195	72794195	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctttgccttccttcataatTtgtatagactccacaattcc	9	16	4	12	0	1	1	1	0	0	1	4	1	4	1	4	0	1	2	4	0	4	8	novel		C3L-01889_TP	C3L-01889_NB	T	T																c.561A>G	p.=	p.Q187Q	ENST00000327305	6/11	305	226	79	315	315	0	strelka-varscan-mutect	NETO1,synonymous_variant,p.=,ENST00000327305,NM_138966.3;NETO1,synonymous_variant,p.=,ENST00000583169,NM_001201465.1;NETO1,intron_variant,,ENST00000579730,;	C	ENST00000327305	Transcript	synonymous_variant	1219/3058	561/1602	187/533	Q	caA/caG		1		-1	NETO1	HGNC	HGNC:13823	protein_coding	YES	CCDS12000.1	ENSP00000313088	Q8TDF5	A0A024R375	UPI000013E59E	NM_138966.3			6/11		Gene3D:2.60.120.290,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF315,SMART_domains:SM00042,Superfamily_domains:SSF49854																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	28	72794195	72794195	T	C	1	0	0	0	0	0	0	0	1	10374	1838	64	5		5	NETO1	18	72794195	Silent	SNP	T	C3L-01889_TP	2920992	72794195	7579090	168	8276											
STK11	0	.	GRCh38	chr19	1218493	1218493	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttatacaacgaagagaagCagaaaatatatcctttccgg	16	10	8	7	2	0	2	0	0	0	2	2	4	2	2	2	1	3	2	2	1	9	5			C3L-01889_TP	C3L-01889_NB	C	C																c.367C>T	p.Gln123Ter	p.Q123*	ENST00000326873	2/10	124	98	26	199	199	0	strelka-varscan-mutect	STK11,stop_gained,p.Gln123Ter,ENST00000586243,;STK11,stop_gained,p.Gln123Ter,ENST00000326873,NM_000455.4;STK11,5_prime_UTR_variant,,ENST00000585748,;STK11,intron_variant,,ENST00000585851,;STK11,upstream_gene_variant,,ENST00000585465,;STK11,3_prime_UTR_variant,,ENST00000593219,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;STK11,upstream_gene_variant,,ENST00000591133,;	T	ENST00000326873	Transcript	stop_gained	817/2611	367/1302	123/433	Q/*	Cag/Tag	CM041078,COSM380443,COSM5224269	1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4			2/10		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1,1						HIGH	1	SNV	1		1,1,1	1										PASS		rs1131690925	.												T	4	4	28	1218493	1218493	C	T	1	0	0	0	0	0	1	0	0	15664	711	25	3		3	STK11	19	1218493	Nonsense_Mutation	SNP	C	C3L-01889_TP		1218493	57399123	169	8277											
ATCAY	0	.	GRCh38	chr19	3913813	3913813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttggaagacctggagcaaCtcatccctatggaacacgtc	11	8	10	12	1	1	1	1	0	0	1	3	4	2	4	2	3	3	2	2	3	4	2	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.922C>T	p.Leu308Phe	p.L308F	ENST00000450849	9/13	178	125	53	210	208	2	strelka-varscan-mutect	ATCAY,missense_variant,p.Leu308Phe,ENST00000450849,NM_033064.4;ATCAY,missense_variant,p.Leu308Phe,ENST00000600960,;ATCAY,3_prime_UTR_variant,,ENST00000597739,;	T	ENST00000450849	Transcript	missense_variant	1389/5070	922/1116	308/371	L/F	Ctc/Ttc		1		1	ATCAY	HGNC	HGNC:779	protein_coding	YES	CCDS45923.1	ENSP00000390941	Q86WG3	A0A0S2Z5T8	UPI000006DE3B	NM_033064.4	tolerated(0.14)		9/13		Gene3D:3.40.525.10,Pfam_domain:PF13716,PROSITE_profiles:PS50191,hmmpanther:PTHR12112,hmmpanther:PTHR12112:SF9,SMART_domains:SM00516,Superfamily_domains:SSF52087																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	3913813	3913813	C	T	1	0	0	0	0	1	0	0	0	1226	565	20	3		3	ATCAY	19	3913813	Missense_Mutation	SNP	C	C3L-01889_TP	2695320	3913813	54703803	170	8278											
C19orf45	0	.	GRCh38	chr19	7506152	7506152	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagcaaagctacctgccGcggggcacgggcggtgagcg	7	5	17	12	5	0	1	0	1	0	0	0	1	0	1	2	4	6	4	2	4	2	2	rs776584000		C3L-01889_TP	C3L-01889_NB	G	G																c.1194G>A	p.=	p.P398P	ENST00000361664	7/9	61	40	21	85	85	0	strelka-varscan-mutect	C19orf45,synonymous_variant,p.=,ENST00000361664,NM_198534.2;C19orf45,downstream_gene_variant,,ENST00000601176,;C19orf45,downstream_gene_variant,,ENST00000596132,;C19orf45,downstream_gene_variant,,ENST00000597207,;CTD-2207O23.12,upstream_gene_variant,,ENST00000599312,;C19orf45,non_coding_transcript_exon_variant,,ENST00000600112,;CTD-2207O23.12,upstream_gene_variant,,ENST00000597384,;C19orf45,upstream_gene_variant,,ENST00000601292,;C19orf45,downstream_gene_variant,,ENST00000596524,;	A	ENST00000361664	Transcript	synonymous_variant	1335/1679	1194/1518	398/505	P	ccG/ccA	rs776584000,COSM4581575,COSM4881822	1		1	C19orf45	HGNC	HGNC:24745	protein_coding	YES	CCDS12179.2	ENSP00000355241	Q8NA69		UPI00001D83AB	NM_198534.2			7/9		Pfam_domain:PF15373,hmmpanther:PTHR34828											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs776584000	.												A	2	1	28	7506152	7506152	G	A	1	0	0	0	0	0	0	0	1	1912	1074	38	1		1	C19orf45	19	7506152	Silent	SNP	G	C3L-01889_TP	3592339	7506152	51111464	171	8279											
KEAP1	0	.	GRCh38	chr19	10492130	10492130	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtagaaccgtcgctgttCgcagtcgtacttgacccagt	8	10	11	12	5	0	2	0	1	0	1	3	3	0	2	2	0	2	5	2	0	3	4	rs374324474		C3L-01889_TP	C3L-01889_NB	C	C																c.772G>T	p.Glu258Ter	p.E258*	ENST00000171111	3/6	225	138	87	268	268	0	strelka-varscan-mutect	KEAP1,stop_gained,p.Glu258Ter,ENST00000171111,NM_203500.1;KEAP1,stop_gained,p.Glu258Ter,ENST00000393623,NM_012289.3;KEAP1,stop_gained,p.Glu258Ter,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000592478,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,non_coding_transcript_exon_variant,,ENST00000588024,;KEAP1,3_prime_UTR_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590593,;KEAP1,upstream_gene_variant,,ENST00000590237,;	A	ENST00000171111	Transcript	stop_gained	1320/2955	772/1875	258/624	E/*	Gaa/Taa	rs374324474	1		-1	KEAP1	HGNC	HGNC:23177	protein_coding	YES	CCDS12239.1	ENSP00000171111	Q14145	A0A024R7C0	UPI000007139C	NM_203500.1			3/6		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,SMART_domains:SM00875																	HIGH	1	SNV	1			1										PASS		rs374324474	.												A	4	1	28	10492130	10492130	C	A	1	0	0	0	0	0	1	0	0	8061	893	31	1		1	KEAP1	19	10492130	Nonsense_Mutation	SNP	C	C3L-01889_TP	2985978	10492130	48125486	172	8280											
PLVAP	0	.	GRCh38	chr19	17365507	17365507	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaccttctgtttcgcctCctgactggcccgcaggccct	3	11	8	19	2	1	1	0	1	1	0	4	1	3	1	6	2	0	2	6	2	0	2	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.958G>T	p.Glu320Ter	p.E320*	ENST00000252590	3/6	117	80	37	154	154	0	strelka-varscan-mutect	PLVAP,stop_gained,p.Glu320Ter,ENST00000252590,NM_031310.2;PLVAP,intron_variant,,ENST00000599426,;PLVAP,intron_variant,,ENST00000595816,;CTD-2278I10.1,downstream_gene_variant,,ENST00000597592,;	A	ENST00000252590	Transcript	stop_gained	1020/2305	958/1329	320/442	E/*	Gag/Tag		1		-1	PLVAP	HGNC	HGNC:13635	protein_coding	YES	CCDS32952.1	ENSP00000252590	Q9BX97		UPI000003ED36	NM_031310.2			3/6		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21687:SF5,hmmpanther:PTHR21687,Pfam_domain:PF06637																	HIGH	1	SNV	1			1										PASS		rs1228702428	.												A	4	1	28	17365507	17365507	C	A	1	0	0	0	0	0	1	0	0	12222	864	30	2		2	PLVAP	19	17365507	Nonsense_Mutation	SNP	C	C3L-01889_TP	6873377	17365507	41252109	173	8281											
ZNF615	0	.	GRCh38	chr19	51993975	51993975	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catataaagggtttctcaccAgtatgagttcgatgatgtgc	11	13	10	7	1	1	2	1	2	1	0	3	3	1	2	1	1	1	3	1	1	4	5	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.1134T>A	p.=	p.T378T	ENST00000594083	6/6	116	82	34	203	203	0	strelka-varscan-mutect	ZNF615,synonymous_variant,p.=,ENST00000602063,NM_001321320.1,NM_001321317.1;ZNF615,synonymous_variant,p.=,ENST00000376716,NM_198480.3;ZNF615,synonymous_variant,p.=,ENST00000594083,NM_001321322.1,NM_001321321.1,NM_001321323.1,NM_001321319.1,NM_001321318.1;ZNF615,synonymous_variant,p.=,ENST00000391795,;ZNF615,synonymous_variant,p.=,ENST00000598071,NM_001199324.1;ZNF615,synonymous_variant,p.=,ENST00000618049,;ZNF615,synonymous_variant,p.=,ENST00000618487,;ZNF615,downstream_gene_variant,,ENST00000593650,;ZNF615,downstream_gene_variant,,ENST00000601178,;ZNF615,3_prime_UTR_variant,,ENST00000599177,;ZNF615,downstream_gene_variant,,ENST00000599115,;	T	ENST00000594083	Transcript	synonymous_variant	1379/4020	1134/2229	378/742	T	acT/acA		1		-1	ZNF615	HGNC	HGNC:24740	protein_coding	YES	CCDS59418.1	ENSP00000471549	Q8N8J6		UPI000022A99B	NM_001321322.1,NM_001321321.1,NM_001321323.1,NM_001321319.1,NM_001321318.1			6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF167,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	28	51993975	51993975	A	T	1	0	0	0	0	0	0	0	1	18615	175	7	4		4	ZNF615	19	51993975	Silent	SNP	A	C3L-01889_TP	34628468	51993975	6623641	174	8282											
KIR2DL1	0	.	GRCh38	chr19	54775459	54775459	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgcttgtttctgtcacagGtgaggaaagcccatggctgt	8	12	12	9	0	2	1	1	1	1	0	2	2	2	2	1	3	2	3	1	3	1	2	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.664+1G>T		p.X222_splice	ENST00000336077		102	60	42	132	132	0	strelka-varscan-mutect	KIR2DL1,splice_donor_variant,,ENST00000336077,NM_014218.2;KIR2DL1,splice_donor_variant,,ENST00000291633,;CTB-61M7.1,intron_variant,,ENST00000400864,;	T	ENST00000336077	Transcript	splice_donor_variant	-/1596	664/1047	222/348				1		1	KIR2DL1	HGNC	HGNC:6329	protein_coding	YES	CCDS12904.1	ENSP00000336769		Q6H2H3	UPI00001195F7	NM_014218.2				4/7																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	28	54775459	54775459	G	T	1	0	0	0	0	0	0	1	0	8181	1275	44	2		2	KIR2DL1	19	54775459	Splice_Site	SNP	G	C3L-01889_TP	2781484	54775459	3842157	175	8283											
PDYN	0	.	GRCh38	chr20	1980393	1980393	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaccaccttgaactggCgccggagaaaaccgccatag	12	5	11	13	3	1	2	1	1	0	1	1	4	1	2	5	2	2	0	5	2	4	2	rs774175877		C3L-01889_TP	C3L-01889_NB	C	C																c.695G>T	p.Arg232Leu	p.R232L	ENST00000539905	3/3	187	122	65	212	212	0	strelka-varscan-mutect	PDYN,missense_variant,p.Arg232Leu,ENST00000539905,NM_001190899.2;PDYN,missense_variant,p.Arg232Leu,ENST00000217305,NM_024411.4,NM_001190898.2;PDYN,missense_variant,p.Arg232Leu,ENST00000540134,NM_001190892.1,NM_001190900.1;RP4-684O24.5,intron_variant,,ENST00000446562,;	A	ENST00000539905	Transcript	missense_variant	1089/2725	695/765	232/254	R/L	cGc/cTc	rs774175877,COSM98097	1		-1	PDYN	HGNC	HGNC:8820	protein_coding	YES	CCDS13023.1	ENSP00000440185	P01213		UPI000012FE6A	NM_001190899.2	deleterious(0)		3/3		hmmpanther:PTHR11438,hmmpanther:PTHR11438:SF4											0,1						MODERATE		SNV	4		0,1	1										PASS		rs774175877	.												A	3	1	28	1980393	1980393	C	A	1	0	0	0	0	1	0	0	0	11787	768	27	1		1	PDYN	20	1980393	Missense_Mutation	SNP	C	C3L-01889_TP		1980393	62463774	176	8284											
GPCPD1	0	.	GRCh38	chr20	5559991	5559991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactattctcctcttcccaGaattttctaaaacagttttt	11	17	2	11	0	3	1	0	0	3	1	5	1	4	1	2	0	1	1	2	0	4	8	rs777683264		C3L-01889_TP	C3L-01889_NB	G	G																c.1481C>T	p.Ser494Phe	p.S494F	ENST00000379019	17/20	88	74	14	74	74	0	strelka-varscan-mutect	GPCPD1,missense_variant,p.Ser494Phe,ENST00000379019,NM_019593.3;GPCPD1,intron_variant,,ENST00000418646,;GPCPD1,3_prime_UTR_variant,,ENST00000633552,;GPCPD1,non_coding_transcript_exon_variant,,ENST00000481038,;	A	ENST00000379019	Transcript	missense_variant	1694/5489	1481/2019	494/672	S/F	tCt/tTt	rs777683264	1		-1	GPCPD1	HGNC	HGNC:26957	protein_coding	YES	CCDS13090.1	ENSP00000368305	Q9NPB8		UPI0000062241	NM_019593.3	deleterious(0)		17/20		PROSITE_profiles:PS51704,hmmpanther:PTHR22958,Gene3D:3.20.20.190,Pfam_domain:PF03009,Superfamily_domains:SSF51695																	MODERATE	1	SNV	1			1										PASS		rs777683264	.												A	3	1	28	5559991	5559991	G	A	1	0	0	0	0	1	0	0	0	6505	942	33	3		3	GPCPD1	20	5559991	Missense_Mutation	SNP	G	C3L-01889_TP	3579598	5559991	58884176	177	8285											
ANKEF1	0	.	GRCh38	chr20	10050079	10050079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atattatcaccaaagcagggGatctggcttctctgaaaaag	14	10	9	8	0	3	1	1	1	2	0	4	2	3	2	1	3	1	2	1	3	5	3			C3L-01889_TP	C3L-01889_NB	G	G																c.1510G>T	p.Asp504Tyr	p.D504Y	ENST00000378380	6/10	292	220	72	277	277	0	strelka-varscan-mutect	ANKEF1,missense_variant,p.Asp504Tyr,ENST00000378380,NM_198798.2,NM_001303472.1;ANKEF1,missense_variant,p.Asp504Tyr,ENST00000378392,NM_022096.5;SNAP25-AS1,intron_variant,,ENST00000603542,;SNAP25-AS1,intron_variant,,ENST00000421143,;ANKEF1,non_coding_transcript_exon_variant,,ENST00000488991,;	T	ENST00000378380	Transcript	missense_variant	1839/5303	1510/2331	504/776	D/Y	Gat/Tat	COSM5391549	1		1	ANKEF1	HGNC	HGNC:15803	protein_coding	YES	CCDS13108.1	ENSP00000367631	Q9NU02		UPI0000125B51	NM_198798.2,NM_001303472.1	deleterious(0)		6/10		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR24127,hmmpanther:PTHR24127:SF1,Superfamily_domains:SSF48403											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	28	10050079	10050079	G	T	1	0	0	0	0	1	0	0	0	726	1174	41	2		2	ANKEF1	20	10050079	Missense_Mutation	SNP	G	C3L-01889_TP	4490088	10050079	54394088	178	8286											
ARHGAP40	0	.	GRCh38	chr20	38641733	38641733	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttcccgcagacatcccCaacctgaagcagcgcctgca	9	6	7	19	2	0	2	0	1	0	1	3	2	3	2	6	0	4	3	6	0	2	1	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.1128C>T	p.=	p.P376P	ENST00000373345	10/15	205	145	60	171	171	0	strelka-varscan-mutect	ARHGAP40,synonymous_variant,p.=,ENST00000373345,NM_001164431.1;ARHGAP40,synonymous_variant,p.=,ENST00000243967,;ARHGAP40,upstream_gene_variant,,ENST00000373346,;	T	ENST00000373345	Transcript	synonymous_variant	1296/2841	1128/1869	376/622	P	ccC/ccT		1		1	ARHGAP40	HGNC	HGNC:16226	protein_coding	YES		ENSP00000362442	Q5TG30		UPI0000DD8570	NM_001164431.1			10/15		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF4,SMART_domains:SM00324,Superfamily_domains:SSF48350																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	28	38641733	38641733	C	T	1	0	0	0	0	0	0	0	1	1012	581	21	3		3	ARHGAP40	20	38641733	Silent	SNP	C	C3L-01889_TP	28591654	38641733	25802434	179	8287											
OCSTAMP	0	.	GRCh38	chr20	46541568	46541568	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caggcaggtctgggtgtgggGacgcaagaaggatcccctag	9	6	17	9	1	1	1	0	0	1	1	2	3	2	3	2	6	0	2	2	6	3	1	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.1407C>G	p.=	p.V469V	ENST00000279028	3/3	281	203	78	264	264	0	strelka-varscan-mutect	OCSTAMP,synonymous_variant,p.=,ENST00000279028,NM_080721.2;	C	ENST00000279028	Transcript	synonymous_variant	1421/2043	1407/1701	469/566	V	gtC/gtG		1		-1	OCSTAMP	HGNC	HGNC:16116	protein_coding	YES	CCDS54468.1	ENSP00000279028	Q9BR26		UPI00006C1A90	NM_080721.2			3/3		hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF3																	LOW	1	SNV	5			1										PASS		rs1259257985	.												C	2	2	28	46541568	46541568	G	C	1	0	0	0	0	0	0	0	1	10901	1161	41	4		4	OCSTAMP	20	46541568	Silent	SNP	G	C3L-01889_TP	7899835	46541568	17902599	180	8288											
TPTE	0	.	GRCh38	chr21	10559494	10559494	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttacttctttttgcagCagcaagattaagaaaattgt	13	17	6	5	0	1	2	0	0	1	2	1	2	1	2	0	0	4	3	0	0	5	8	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.234C>A	p.Asp78Glu	p.D78E	ENST00000618007	9/24	248	212	36	249	248	1	strelka-varscan-mutect	TPTE,missense_variant,p.Asp60Glu,ENST00000622113,NM_199259.3;TPTE,missense_variant,p.Asp78Glu,ENST00000618007,NM_199261.3;TPTE,missense_variant,p.Ser40Arg,ENST00000427445,NM_199260.3;TPTE,missense_variant,p.Asp60Glu,ENST00000612957,;TPTE,splice_region_variant,,ENST00000612746,NM_001290224.1;AL078471.5,splice_region_variant,,ENST00000612267,;	A	ENST00000618007	Transcript	missense_variant,splice_region_variant	564/2150	234/1656	78/551	D/E	gaC/gaA		1		1	TPTE	HGNC	HGNC:12023	protein_coding	YES	CCDS74771.1	ENSP00000484403	P56180		UPI000016A18A	NM_199261.3	tolerated(0.27)		9/24																			MODERATE	1	SNV	1			1										PASS		rs1244920047	.												A	3	1	28	10559494	10559494	C	A	1	0	0	0	0	1	0	0	0	16911	724	25	2		2	TPTE	21	10559494	Missense_Mutation	SNP	C	C3L-01889_TP		10559494	36150489	181	8289											
PAXBP1	0	.	GRCh38	chr21	32771661	32771661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttcacccgccgggcctttCggaacatccccgcggcccgc	4	6	11	20	7	1	0	1	0	0	0	3	1	2	1	6	3	1	1	6	3	1	2	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.8G>A	p.Arg3Gln	p.R3Q	ENST00000331923	1/18	54	39	15	62	62	0	strelka-mutect	PAXBP1,missense_variant,p.Arg3Gln,ENST00000331923,NM_016631.3;PAXBP1,missense_variant,p.Arg3Gln,ENST00000290178,NM_013329.3;C21orf62-AS1,upstream_gene_variant,,ENST00000382375,;C21orf62-AS1,upstream_gene_variant,,ENST00000612326,;C21orf62-AS1,upstream_gene_variant,,ENST00000382377,;C21orf62-AS1,upstream_gene_variant,,ENST00000491756,;C21orf62-AS1,upstream_gene_variant,,ENST00000382378,;C21orf62-AS1,upstream_gene_variant,,ENST00000454365,;C21orf62-AS1,upstream_gene_variant,,ENST00000477513,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000472588,;PAXBP1,missense_variant,p.Arg3Gln,ENST00000443785,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000464256,;	T	ENST00000331923	Transcript	missense_variant	198/3995	8/2754	3/917	R/Q	cGa/cAa		1		-1	PAXBP1	HGNC	HGNC:13579	protein_coding	YES	CCDS13619.1	ENSP00000328992	Q9Y5B6		UPI000012B294	NM_016631.3	tolerated_low_confidence(0.06)		1/18		Low_complexity_(Seg):seg,hmmpanther:PTHR12214:SF2,hmmpanther:PTHR12214																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	28	32771661	32771661	C	T	1	0	0	0	0	1	0	0	0	11572	884	31	1		1	PAXBP1	21	32771661	Missense_Mutation	SNP	C	C3L-01889_TP	22212167	32771661	13938322	182	8290											
BRWD1	0	.	GRCh38	chr21	39210906	39210906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaacatagttcgtagctctGatgctttttttcccatcatg	8	17	6	10	1	3	1	2	1	1	0	5	1	4	1	1	0	3	4	1	0	3	6	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.3924C>T	p.=	p.I1308I	ENST00000333229	35/42	240	145	95	181	181	0	strelka-varscan-mutect	BRWD1,synonymous_variant,p.=,ENST00000342449,NM_033656.3;BRWD1,synonymous_variant,p.=,ENST00000333229,NM_018963.4;BRWD1,synonymous_variant,p.=,ENST00000380800,;BRWD1,intron_variant,,ENST00000424441,;BRWD1,3_prime_UTR_variant,,ENST00000446924,;BRWD1,non_coding_transcript_exon_variant,,ENST00000473813,;	A	ENST00000333229	Transcript	synonymous_variant	4252/10141	3924/6963	1308/2320	I	atC/atT		1		-1	BRWD1	HGNC	HGNC:12760	protein_coding	YES	CCDS13662.1	ENSP00000330753	Q9NSI6		UPI0000163C12	NM_018963.4			35/42		hmmpanther:PTHR16266:SF26,hmmpanther:PTHR16266																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	28	39210906	39210906	G	A	1	0	0	0	0	0	0	0	1	1699	1280	45	3		3	BRWD1	21	39210906	Silent	SNP	G	C3L-01889_TP	6439245	39210906	7499077	183	8291											
DIP2A	0	.	GRCh38	chr21	46556020	46556020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatagcaagcgttttcaggCccccctcccccgatgtcctc	7	9	8	17	2	1	1	1	0	0	1	4	2	3	1	6	1	2	2	6	1	2	3	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.3427C>A	p.Pro1143Thr	p.P1143T	ENST00000417564	29/38	355	212	143	284	283	1	strelka-varscan-mutect	DIP2A,missense_variant,p.Pro1139Thr,ENST00000400274,NM_001146116.1;DIP2A,missense_variant,p.Pro1143Thr,ENST00000417564,NM_015151.3;DIP2A,non_coding_transcript_exon_variant,,ENST00000481883,;DIP2A,non_coding_transcript_exon_variant,,ENST00000472364,;	A	ENST00000417564	Transcript	missense_variant	3448/6967	3427/4716	1143/1571	P/T	Ccc/Acc		1		1	DIP2A	HGNC	HGNC:17217	protein_coding	YES	CCDS46655.1	ENSP00000392066	Q14689		UPI00001B2E47	NM_015151.3	tolerated(0.05)		29/38		Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF24,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	46556020	46556020	C	A	1	0	0	0	0	1	0	0	0	4332	739	26	2		2	DIP2A	21	46556020	Missense_Mutation	SNP	C	C3L-01889_TP	7345114	46556020	153963	184	8292											
MICAL3	0	.	GRCh38	chr22	17901939	17901939	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaattcatactctgacacAggatgagtcttggggtgcac	11	11	10	9	0	4	2	2	2	2	0	4	3	4	3	0	3	2	1	0	3	2	3	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.630T>C	p.=	p.P210P	ENST00000441493	5/32	128	99	29	88	88	0	strelka-varscan-mutect	MICAL3,synonymous_variant,p.=,ENST00000441493,NM_015241.2;MICAL3,synonymous_variant,p.=,ENST00000414725,;MICAL3,synonymous_variant,p.=,ENST00000585038,NM_001136004.3;MICAL3,synonymous_variant,p.=,ENST00000400561,NM_001122731.2;MICAL3,synonymous_variant,p.=,ENST00000383094,;MICAL3,downstream_gene_variant,,ENST00000424046,;MICAL3,synonymous_variant,p.=,ENST00000495076,;	G	ENST00000441493	Transcript	synonymous_variant	983/9445	630/6009	210/2002	P	ccT/ccC		1		-1	MICAL3	HGNC	HGNC:24694	protein_coding	YES	CCDS46659.1	ENSP00000416015	Q7RTP6		UPI0001823FDE	NM_015241.2			5/32		hmmpanther:PTHR11915:SF239,hmmpanther:PTHR11915,Gene3D:3.50.50.60,Superfamily_domains:SSF51905																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	28	17901939	17901939	A	G	1	0	0	0	0	0	0	0	1	9528	175	7	5		5	MICAL3	22	17901939	Silent	SNP	A	C3L-01889_TP		17901939	32916529	185	8293											
SRRD	0	.	GRCh38	chr22	26483992	26483992	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcggagggaggcggcgccCcgggggagagaggcggcgcc	5	0	24	12	7	0	1	0	0	0	1	0	5	0	4	3	9	0	0	3	9	0	0	rs62226564		C3L-01889_TP	C3L-01889_NB	C	C																c.102C>G	p.=	p.P34P	ENST00000215917	1/7	50	44	6	45	45	0	varscan-mutect	SRRD,synonymous_variant,p.=,ENST00000215917,NM_001013694.2;HPS4,upstream_gene_variant,,ENST00000398145,NM_022081.5;HPS4,upstream_gene_variant,,ENST00000336873,;HPS4,upstream_gene_variant,,ENST00000402105,NM_152841.2;HPS4,upstream_gene_variant,,ENST00000422379,;HPS4,upstream_gene_variant,,ENST00000483631,;HPS4,upstream_gene_variant,,ENST00000479064,;HPS4,upstream_gene_variant,,ENST00000473782,;HPS4,upstream_gene_variant,,ENST00000466781,;HPS4,upstream_gene_variant,,ENST00000464362,;HPS4,upstream_gene_variant,,ENST00000439453,;HPS4,upstream_gene_variant,,ENST00000429411,;HPS4,upstream_gene_variant,,ENST00000496385,;HPS4,upstream_gene_variant,,ENST00000481910,;SRRD,upstream_gene_variant,,ENST00000477945,;	G	ENST00000215917	Transcript	synonymous_variant	116/4020	102/1020	34/339	P	ccC/ccG	rs62226564	1		1	SRRD	HGNC	HGNC:33910	protein_coding	YES	CCDS42995.1	ENSP00000215917	Q9UH36		UPI00000723CF	NM_001013694.2			1/7		Low_complexity_(Seg):seg,hmmpanther:PTHR28626,hmmpanther:PTHR28626:SF3																	LOW	1	SNV	1			1										PASS		rs62226564	.												G	2	3	28	26483992	26483992	C	G	1	0	0	0	0	0	0	0	1	15528	610	22	4		4	SRRD	22	26483992	Silent	SNP	C	C3L-01889_TP	8582053	26483992	24334476	186	8294											
CCDC117	0	.	GRCh38	chr22	28773777	28773782	+	Splice_Site	DEL	GAGTAA	GAGTAA	-																															gagaggaggaggaggatgatGagtaagtttcagtggttgtt																								novel		C3L-01889_TP	C3L-01889_NB	GAGTAA	GAGTAA																c.239_239+5delAGTAAG		p.X80_splice	ENST00000249064	2/5	143	113	30	161	161	0	sindel-varindel-pindel	CCDC117,splice_donor_variant,,ENST00000249064,NM_001284265.1,NM_173510.3;CCDC117,splice_donor_variant,,ENST00000421503,NM_001284264.1;CCDC117,splice_donor_variant,,ENST00000432510,;CCDC117,intron_variant,,ENST00000448492,NM_001284263.1;CCDC117,intron_variant,,ENST00000444523,;CCDC117,splice_donor_variant,,ENST00000453543,;	-	ENST00000249064	Transcript	splice_donor_variant,coding_sequence_variant,intron_variant	414-?/3985	238-?/840	80-?/279				1		1	CCDC117	HGNC	HGNC:26599	protein_coding	YES	CCDS13846.1	ENSP00000249064	Q8IWD4	A0A024R1C5	UPI000007450B	NM_001284265.1,NM_173510.3			2/5	2/4																		HIGH	1	deletion	1	1		1										PASS		.	.												-	8	5	28	28773777	28773777	GAGTAA	-	1	0	1	0	1	0	0	1	0	2447	1304	45	0		0	CCDC117	22	28773777	Splice_Site	DEL	GAGTAA	C3L-01889_TP	2289785	28773777	22044691	187	8295											
RFPL2	0	.	GRCh38	chr22	32193103	32193103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcacttgaggcagacggCgcatccacactccagggaca	12	5	11	13	2	0	2	0	1	0	1	2	3	2	3	2	3	1	3	2	3	1	1	rs8135276		C3L-01889_TP	C3L-01889_NB	C	C																c.355G>A	p.Ala119Thr	p.A119T	ENST00000400237	4/5	284	208	76	249	248	1	strelka-varscan-mutect	RFPL2,missense_variant,p.Ala119Thr,ENST00000400237,NM_001098527.2;RFPL2,missense_variant,p.Ala58Thr,ENST00000248980,NM_001159545.1,NM_006605.3,NM_001159546.1;RFPL2,missense_variant,p.Ala119Thr,ENST00000248983,;AL008723.1,downstream_gene_variant,,ENST00000623133,;RFPL3-AS1_1,upstream_gene_variant,,ENST00000618747,;RFPL2,non_coding_transcript_exon_variant,,ENST00000489846,;RFPL2,missense_variant,p.Arg70His,ENST00000626996,;RFPL2,missense_variant,p.Arg88His,ENST00000628378,;	T	ENST00000400237	Transcript	missense_variant	1291/2407	355/1137	119/378	A/T	Gcc/Acc	rs8135276	1		-1	RFPL2	HGNC	HGNC:9979	protein_coding	YES	CCDS43009.2	ENSP00000383096	O75678		UPI000013CC66	NM_001098527.2	tolerated(0.55)		4/5		Gene3D:3.30.40.10,Pfam_domain:PF15227,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF225,Superfamily_domains:SSF57850																	MODERATE	1	SNV	2			1										PASS		rs8135276	.												T	3	4	28	32193103	32193103	C	T	1	0	0	0	0	1	0	0	0	13425	768	27	1		1	RFPL2	22	32193103	Missense_Mutation	SNP	C	C3L-01889_TP	3419326	32193103	18625365	188	8296											
CELSR1	0	.	GRCh38	chr22	46535036	46535036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgttggcgtcacggtcgCgggcctgcagggtcagcacg	5	7	16	13	5	2	0	2	0	0	0	3	0	2	0	1	4	2	3	1	4	0	1	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.2135G>T	p.Arg712Leu	p.R712L	ENST00000262738	1/35	173	125	48	118	118	0	strelka-varscan-mutect	CELSR1,missense_variant,p.Arg712Leu,ENST00000262738,NM_014246.1;CELSR1,missense_variant,p.Arg87Leu,ENST00000454637,;CELSR1,upstream_gene_variant,,ENST00000497509,;	A	ENST00000262738	Transcript	missense_variant	2135/11389	2135/9045	712/3014	R/L	cGc/cTc		1		-1	CELSR1	HGNC	HGNC:1850	protein_coding	YES	CCDS14076.1	ENSP00000262738	Q9NYQ6		UPI0000040648	NM_014246.1	tolerated(0.14)		1/35		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF36,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	46535036	46535036	C	A	1	0	0	0	0	1	0	0	0	2928	768	27	1		1	CELSR1	22	46535036	Missense_Mutation	SNP	C	C3L-01889_TP	14341933	46535036	4283432	189	8297											
PDK3	0	.	GRCh38	chrX	24533979	24533979	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttttaataagtccgcAtggcgccattacaagaccac	12	10	7	12	2	0	1	0	0	0	1	1	1	1	1	4	1	1	2	4	1	4	5	rs746656692		C3L-01889_TP	C3L-01889_NB	A	A																c.1128A>T	p.=	p.A376A	ENST00000441463	11/12	131	96	35	104	104	0	strelka-varscan-mutect	PDK3,synonymous_variant,p.=,ENST00000441463,NM_001142386.2;PDK3,synonymous_variant,p.=,ENST00000379162,NM_005391.4;	T	ENST00000441463	Transcript	synonymous_variant	1128/1921	1128/1248	376/415	A	gcA/gcT	rs746656692	1		1	PDK3	HGNC	HGNC:8811	protein_coding	YES	CCDS48088.1	ENSP00000387536	Q15120		UPI00002124D4	NM_001142386.2			11/12		hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF21																	LOW	1	SNV	2			1										PASS		rs746656692	.												T	2	4	28	24533979	24533979	A	T	1	0	0	0	0	0	0	0	1	11765	204	8	4		4	PDK3	23	24533979	Silent	SNP	A	C3L-01889_TP		24533979	131506916	190	8298											
DMD	0	.	GRCh38	chrX	32644284	32644284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatattaccaacccggccCtgatgggctgtcaaatccat	12	9	8	12	1	1	2	1	1	0	1	2	2	2	2	4	2	2	1	4	2	5	2	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.1179G>T	p.Gln393His	p.Q393H	ENST00000357033	11/79	304	236	68	286	286	0	strelka-varscan-mutect	DMD,missense_variant,p.Gln393His,ENST00000357033,NM_000109.3,NM_004006.2;DMD,missense_variant,p.Gln389His,ENST00000378677,NM_004010.3,NM_004009.3;DMD,missense_variant,p.Gln393His,ENST00000620040,;DMD,missense_variant,p.Gln389His,ENST00000619831,;DMD,missense_variant,p.Gln385His,ENST00000288447,;DMD,intron_variant,,ENST00000447523,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;MIR548F5,upstream_gene_variant,,ENST00000408421,;DMD,intron_variant,,ENST00000488902,;DMD,intron_variant,,ENST00000480751,;	A	ENST00000357033	Transcript	missense_variant	1386/13956	1179/11058	393/3685	Q/H	caG/caT		1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2	deleterious(0)		11/79		hmmpanther:PTHR11915:SF261,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002341,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	32644284	32644284	C	A	1	0	0	0	0	1	0	0	0	4387	680	24	2		2	DMD	23	32644284	Missense_Mutation	SNP	C	C3L-01889_TP	8110305	32644284	123396611	191	8299											
MAOB	0	.	GRCh38	chrX	43795872	43795872	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactcacttgaccagatccgCccacaaatttcctctcctgg	9	10	5	17	1	2	2	1	1	1	1	5	2	4	2	5	1	0	0	5	1	1	2	rs780719254		C3L-01889_TP	C3L-01889_NB	C	C																c.635G>T	p.Gly212Val	p.G212V	ENST00000378069	7/15	90	65	25	82	82	0	strelka-varscan-mutect	MAOB,missense_variant,p.Gly212Val,ENST00000378069,NM_000898.4;MAOB,downstream_gene_variant,,ENST00000487544,;	A	ENST00000378069	Transcript	missense_variant	783/2566	635/1563	212/520	G/V	gGc/gTc	rs780719254	1		-1	MAOB	HGNC	HGNC:6834	protein_coding	YES	CCDS14261.1	ENSP00000367309	P27338		UPI0000049071	NM_000898.4	deleterious(0)		7/15		Pfam_domain:PF01593,Prints_domain:PR00757,hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF267,Superfamily_domains:SSF51905																	MODERATE	1	SNV	1			1										PASS		rs780719254	.												A	3	1	28	43795872	43795872	C	A	1	0	0	0	0	1	0	0	0	9148	739	26	2		2	MAOB	23	43795872	Missense_Mutation	SNP	C	C3L-01889_TP	11151588	43795872	112245023	192	8300											
ZNF630	0	.	GRCh38	chrX	48059951	48059951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcaaggtctgtgcacCgattgaacattttcccaaat	13	10	9	9	1	1	1	0	1	1	0	2	3	2	2	2	2	3	2	2	2	4	3	rs782800953		C3L-01889_TP	C3L-01889_NB	C	C																c.491G>T	p.Arg164Leu	p.R164L	ENST00000442455	5/5	285	204	81	345	344	1	strelka-varscan-mutect	ZNF630,missense_variant,p.Arg164Leu,ENST00000442455,NM_001190255.2,NM_001282201.1;ZNF630,missense_variant,p.Arg40Leu,ENST00000276054,NM_001282202.1;ZNF630,missense_variant,p.Arg164Leu,ENST00000409324,NM_001037735.3;ZNF630,missense_variant,p.Arg150Leu,ENST00000616492,;ZNF630,missense_variant,p.Arg164Leu,ENST00000428686,;ZNF630,missense_variant,p.Arg150Leu,ENST00000627643,;ZNF630,missense_variant,p.Arg40Leu,ENST00000421903,;ZNF630-AS1,intron_variant,,ENST00000614448,;ZNF630,intron_variant,,ENST00000428463,;	A	ENST00000442455	Transcript	missense_variant	1058/2829	491/1974	164/657	R/L	cGg/cTg	rs782800953	1		-1	ZNF630	HGNC	HGNC:28855	protein_coding	YES	CCDS35237.2	ENSP00000393163	Q2M218		UPI0000160BE4	NM_001190255.2,NM_001282201.1	tolerated(0.3)		5/5																			MODERATE		SNV	4			1										PASS		rs782800953	.												A	3	1	28	48059951	48059951	C	A	1	0	0	0	0	1	0	0	0	18629	652	23	1		1	ZNF630	23	48059951	Missense_Mutation	SNP	C	C3L-01889_TP	4264079	48059951	107980944	193	8301											
SMC1A	0	.	GRCh38	chrX	53403796	53403796	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggttcatcttctccttcAagtctttcatttccctctct	4	19	3	15	0	7	0	3	0	4	0	10	0	8	0	3	1	0	1	3	1	1	5	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.2294T>A	p.Leu765Ter	p.L765*	ENST00000322213	14/25	479	347	132	518	518	0	strelka-varscan-mutect	SMC1A,stop_gained,p.Leu743Ter,ENST00000375340,NM_001281463.1;SMC1A,stop_gained,p.Leu765Ter,ENST00000322213,NM_006306.3;MIR6857,downstream_gene_variant,,ENST00000613267,;	T	ENST00000322213	Transcript	stop_gained	2422/9784	2294/3702	765/1233	L/*	tTg/tAg		1		-1	SMC1A	HGNC	HGNC:11111	protein_coding	YES	CCDS14352.1	ENSP00000323421	Q14683		UPI0000135A4D	NM_006306.3			14/25		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF170																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	28	53403796	53403796	A	T	1	0	0	0	0	0	1	0	0	15074	131	5	4		4	SMC1A	23	53403796	Nonsense_Mutation	SNP	A	C3L-01889_TP	5343845	53403796	102637099	194	8302											
RP11-402P6.15	0	.	GRCh38	chrX	71667836	71667836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgaagtgtccgtttgcagGgctggtttaggcccagaggg	7	10	17	7	1	0	2	0	1	0	1	1	3	1	2	2	4	1	4	2	4	2	3	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.33G>T	p.Arg11Ser	p.R11S	ENST00000636096	1/5	19	13	6	22	22	0	strelka-varscan-mutect	RP11-402P6.15,missense_variant,p.Arg11Ser,ENST00000636096,;RP11-402P6.15,intron_variant,,ENST00000636797,;RP11-402P6.9,upstream_gene_variant,,ENST00000422194,;RP11-402P6.9,upstream_gene_variant,,ENST00000433410,;RP11-402P6.9,upstream_gene_variant,,ENST00000637198,;	T	ENST00000636096	Transcript	missense_variant	33/1732	33/1590	11/529	R/S	agG/agT		1		1	RP11-402P6.15	Clone_based_vega_gene		protein_coding	YES		ENSP00000490941					tolerated(0.05)		1/5		hmmpanther:PTHR31866,hmmpanther:PTHR31866:SF1																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	28	71667836	71667836	G	T	1	0	0	0	0	1	0	0	0	13738	1223	43	2		2	RP11-402P6.15	23	71667836	Missense_Mutation	SNP	G	C3L-01889_TP	18264040	71667836	84373059	195	8303											
CDX4	0	.	GRCh38	chrX	73453596	73453596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaaaggaattccattgCaatagatatatcaccatcca	16	10	6	9	0	1	1	1	0	0	1	3	3	3	3	3	2	1	1	3	2	7	5	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.582C>T	p.=	p.C194C	ENST00000373514	2/3	285	207	78	244	244	0	strelka-varscan-mutect	CDX4,synonymous_variant,p.=,ENST00000373514,NM_005193.1;	T	ENST00000373514	Transcript	synonymous_variant	582/1515	582/855	194/284	C	tgC/tgT		1		1	CDX4	HGNC	HGNC:1808	protein_coding	YES	CCDS14424.1	ENSP00000362613	O14627		UPI0000127473	NM_005193.1			2/3		PROSITE_profiles:PS50071,hmmpanther:PTHR24332:SF15,hmmpanther:PTHR24332,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	28	73453596	73453596	C	T	1	0	0	0	0	0	0	0	1	2890	718	25	3		3	CDX4	23	73453596	Silent	SNP	C	C3L-01889_TP	1785760	73453596	82587299	196	8304											
CHIC1	0	.	GRCh38	chrX	73679708	73679708	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgaaactagcaatatgatgGagtatgtaagtatgaggttg	14	12	13	2	0	0	3	0	3	0	0	0	4	0	4	0	2	2	5	0	2	7	6	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.619G>C	p.Glu207Gln	p.E207Q	ENST00000373502	5/6	79	75	4	94	94	0	varscan-mutect	CHIC1,missense_variant,p.Glu207Gln,ENST00000373502,NM_001039840.2;CHIC1,intron_variant,,ENST00000373504,NM_001300884.1;CHIC1,missense_variant,p.Glu200Gln,ENST00000498407,;CHIC1,3_prime_UTR_variant,,ENST00000498318,;	C	ENST00000373502	Transcript	missense_variant	696/4158	619/675	207/224	E/Q	Gag/Cag		1		1	CHIC1	HGNC	HGNC:1934	protein_coding	YES	CCDS35335.2	ENSP00000362601	Q5VXU3		UPI0000160F74	NM_001039840.2	deleterious(0)		5/6		hmmpanther:PTHR13005,hmmpanther:PTHR13005:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	28	73679708	73679708	G	C	1	0	0	0	0	1	0	0	0	3102	1188	41	4		4	CHIC1	23	73679708	Missense_Mutation	SNP	G	C3L-01889_TP	226112	73679708	82361187	197	8305											
TEX13A	0	.	GRCh38	chrX	105219416	105219416	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccctccttctgcccccAataggtgtacttttcctgat	6	15	5	15	0	2	1	0	1	2	0	5	1	4	1	5	1	2	1	5	1	3	5	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.778T>G	p.Trp260Gly	p.W260G	ENST00000600991	3/3	349	267	82	375	375	0	strelka-varscan-mutect	TEX13A,missense_variant,p.Trp260Gly,ENST00000600991,NM_031274.4;TEX13A,missense_variant,p.Trp260Gly,ENST00000609007,NM_001291277.1;IL1RAPL2,intron_variant,,ENST00000372582,NM_017416.1;	C	ENST00000600991	Transcript	missense_variant	890/1377	778/1230	260/409	W/G	Tgg/Ggg		1		-1	TEX13A	HGNC	HGNC:11735	protein_coding	YES	CCDS76005.1	ENSP00000471604	Q9BXU3		UPI0000042200	NM_031274.4	tolerated(1)		3/3		hmmpanther:PTHR23111:SF25,hmmpanther:PTHR23111																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	28	105219416	105219416	A	C	1	0	0	0	0	1	0	0	0	16197	130	5	5		5	TEX13A	23	105219416	Missense_Mutation	SNP	A	C3L-01889_TP	31539708	105219416	50821479	198	8306											
PAK3	0	.	GRCh38	chrX	111196615	111196615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtggaaggtgaaccccCttaccttaatgaaaatccac	14	9	8	10	0	0	2	0	2	0	0	1	3	1	3	4	3	2	0	4	3	7	2	novel		C3L-01889_TP	C3L-01889_NB	C	C																c.1490C>A	p.Pro497His	p.P497H	ENST00000360648	14/16	319	243	76	350	350	0	strelka-varscan-mutect	PAK3,missense_variant,p.Pro461His,ENST00000372007,NM_001324327.1,NM_001324326.1,NM_001324331.1,NM_001324333.1,NM_001324332.1,NM_001324334.1,NM_001324328.1,NM_001324330.1,NM_001324325.1,NM_002578.3;PAK3,missense_variant,p.Pro482His,ENST00000519681,;PAK3,missense_variant,p.Pro476His,ENST00000372010,;PAK3,missense_variant,p.Pro461His,ENST00000446737,NM_001128166.1;PAK3,missense_variant,p.Pro461His,ENST00000425146,NM_001128167.1;PAK3,missense_variant,p.Pro497His,ENST00000360648,NM_001128168.1;PAK3,missense_variant,p.Pro482His,ENST00000417227,NM_001128172.1;PAK3,missense_variant,p.Pro476His,ENST00000262836,NM_001128173.1;PAK3,missense_variant,p.Pro460His,ENST00000620137,;PAK3,missense_variant,p.Pro497His,ENST00000518291,;	A	ENST00000360648	Transcript	missense_variant	1517/2241	1490/1743	497/580	P/H	cCt/cAt		1		1	PAK3	HGNC	HGNC:8592	protein_coding	YES	CCDS48151.1	ENSP00000353864	O75914		UPI0000D61DBC	NM_001128168.1	deleterious(0.02)		14/16		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF250,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	28	111196615	111196615	C	A	1	0	0	0	0	1	0	0	0	11482	681	24	2		2	PAK3	23	111196615	Missense_Mutation	SNP	C	C3L-01889_TP	5977199	111196615	44844280	199	8307											
ALG13	0	.	GRCh38	chrX	111708072	111708072	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtccattgcttctgctccTgggaagtgccaagattctgc	8	12	10	11	0	2	1	0	0	2	1	4	2	4	2	3	1	4	2	3	1	3	3	novel		C3L-01889_TP	C3L-01889_NB	T	T																c.429T>A	p.=	p.P143P	ENST00000394780	4/27	104	76	28	104	104	0	strelka-varscan-mutect	ALG13,synonymous_variant,p.=,ENST00000610588,NM_001257231.1;ALG13,synonymous_variant,p.=,ENST00000394780,NM_001099922.2;ALG13,synonymous_variant,p.=,ENST00000251943,NM_001324292.1,NM_001257237.1;ALG13,synonymous_variant,p.=,ENST00000621367,NM_001257230.1,NM_001257234.1;ALG13,synonymous_variant,p.=,ENST00000436609,;ALG13-AS1,intron_variant,,ENST00000430794,;ALG13,missense_variant,p.Trp124Arg,ENST00000624881,;ALG13,synonymous_variant,p.=,ENST00000636363,;ALG13,3_prime_UTR_variant,,ENST00000624161,;ALG13,3_prime_UTR_variant,,ENST00000623144,;ALG13,3_prime_UTR_variant,,ENST00000623148,;ALG13,3_prime_UTR_variant,,ENST00000495283,;ALG13,3_prime_UTR_variant,,ENST00000486353,;ALG13,3_prime_UTR_variant,,ENST00000471924,;ALG13,intron_variant,,ENST00000470971,;ALG13,intron_variant,,ENST00000487141,;ALG13,intron_variant,,ENST00000622997,;ALG13,intron_variant,,ENST00000470704,;	A	ENST00000394780	Transcript	synonymous_variant	498/4133	429/3414	143/1137	P	ccT/ccA		1		1	ALG13	HGNC	HGNC:30881	protein_coding	YES	CCDS55477.1	ENSP00000378260	Q9NP73		UPI0000E5AFF9	NM_001099922.2			4/27		hmmpanther:PTHR12867:SF5,hmmpanther:PTHR12867																	LOW	1	SNV	2			1										PASS		rs1173829709	.												A	2	1	28	111708072	111708072	T	A	1	0	0	0	0	0	0	0	1	615	1567	55	4		4	ALG13	23	111708072	Silent	SNP	T	C3L-01889_TP	511457	111708072	44332823	200	8308											
DCAF12L2	0	.	GRCh38	chrX	126165356	126165356	+	Missense_Mutation	SNP	C	C	A																															tccagtccttgtggccatggCggtcgcccaggcacaggggg																								novel		C3L-01889_TP	C3L-01889_NB	C	C																c.569G>T	p.Arg190Leu	p.R190L	ENST00000360028	1/1	294	245	49	271	271	0	strelka-mutect	DCAF12L2,missense_variant,p.Arg190Leu,ENST00000360028,NM_001013628.2;	A	ENST00000360028	Transcript	missense_variant	742/2599	569/1392	190/463	R/L	cGc/cTc		1		-1	DCAF12L2	HGNC	HGNC:32950	protein_coding	YES	CCDS43991.1	ENSP00000353128	Q5VW00		UPI0000197594	NM_001013628.2	tolerated(0.25)		1/1		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19860:SF8,hmmpanther:PTHR19860,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	28	126165356	126165356	C	A	1	0	0	0	0	1	0	0	0	4066	768	27	1		1	DCAF12L2	23	126165356	Missense_Mutation	SNP	C	C3L-01889_TP	14457284	126165356	29875539	201	8309	191	3									
DCAF12L2	0	.	GRCh38	chrX	126165361	126165361	+	Silent	SNP	G	G	A																															tccttgtggccatggcggtcGcccaggcacagggggtccag																										C3L-01889_TP	C3L-01889_NB	G	G																c.564C>T	p.=	p.G188G	ENST00000360028	1/1	281	235	46	263	263	0	strelka-mutect	DCAF12L2,synonymous_variant,p.=,ENST00000360028,NM_001013628.2;	A	ENST00000360028	Transcript	synonymous_variant	737/2599	564/1392	188/463	G	ggC/ggT	COSM4790853,COSM4790854	1		-1	DCAF12L2	HGNC	HGNC:32950	protein_coding	YES	CCDS43991.1	ENSP00000353128	Q5VW00		UPI0000197594	NM_001013628.2			1/1		hmmpanther:PTHR19860:SF8,hmmpanther:PTHR19860,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978											1,1						LOW	1	SNV			1,1	1										PASS		rs1224019540	.												A	2	1	28	126165361	126165361	G	A	1	0	0	0	0	0	0	0	1	4066	1074	38	1		1	DCAF12L2	23	126165361	Silent	SNP	G	C3L-01889_TP	5	126165361	29875534	202	8310	191	3									
DCAF12L2	0	.	GRCh38	chrX	126165363	126165363	+	Missense_Mutation	SNP	C	C	A																															cttgtggccatggcggtcgcCcaggcacagggggtccaggg																								novel		C3L-01889_TP	C3L-01889_NB	C	C																c.562G>T	p.Gly188Cys	p.G188C	ENST00000360028	1/1	279	233	46	254	254	0	strelka-mutect	DCAF12L2,missense_variant,p.Gly188Cys,ENST00000360028,NM_001013628.2;	A	ENST00000360028	Transcript	missense_variant	735/2599	562/1392	188/463	G/C	Ggc/Tgc		1		-1	DCAF12L2	HGNC	HGNC:32950	protein_coding	YES	CCDS43991.1	ENSP00000353128	Q5VW00		UPI0000197594	NM_001013628.2	deleterious(0)		1/1		hmmpanther:PTHR19860:SF8,hmmpanther:PTHR19860,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	28	126165363	126165363	C	A	1	0	0	0	0	1	0	0	0	4066	623	22	2		2	DCAF12L2	23	126165363	Missense_Mutation	SNP	C	C3L-01889_TP	2	126165363	29875532	203	8311	191	3									
BCORL1	0	.	GRCh38	chrX	130015939	130015939	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaaatggagaaggtggatgGtgatgtggtcttcaatttag	12	12	15	2	0	2	2	1	1	1	1	2	5	2	3	0	5	0	0	0	5	5	3	novel		C3L-01889_TP	C3L-01889_NB	G	G																c.3167G>C	p.Gly1056Ala	p.G1056A	ENST00000540052	3/12	287	214	73	305	305	0	strelka-varscan-mutect	BCORL1,missense_variant,p.Gly1056Ala,ENST00000540052,NM_021946.4;BCORL1,missense_variant,p.Gly1056Ala,ENST00000218147,;BCORL1,missense_variant,p.Gly656Ala,ENST00000456822,;BCORL1,missense_variant,p.Gly492Ala,ENST00000441294,;BCORL1,downstream_gene_variant,,ENST00000488135,;	C	ENST00000540052	Transcript	missense_variant	3211/7127	3167/5136	1056/1711	G/A	gGt/gCt		1		1	BCORL1	HGNC	HGNC:25657	protein_coding	YES	CCDS14616.1	ENSP00000437775	Q5H9F3		UPI0001D3414A	NM_021946.4			3/12		hmmpanther:PTHR24117,hmmpanther:PTHR24117:SF6																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	28	130015939	130015939	G	C	1	0	0	0	0	1	0	0	0	1534	1261	44	4		4	BCORL1	23	130015939	Missense_Mutation	SNP	G	C3L-01889_TP	3850576	130015939	26024956	204	8312											
MAGEC3	0	.	GRCh38	chrX	141895353	141895353	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacctgaagcattttgcgagGagtctggactcaggtcagca	10	9	13	9	1	3	1	2	1	1	0	3	5	3	3	1	3	3	2	1	3	1	2			C3L-01889_TP	C3L-01889_NB	G	G																c.994G>T	p.Glu332Ter	p.E332*	ENST00000298296	5/8	189	132	57	195	194	1	strelka-varscan-mutect	MAGEC3,stop_gained,p.Glu332Ter,ENST00000298296,NM_138702.1;MAGEC3,5_prime_UTR_variant,,ENST00000544766,NM_177456.2;MAGEC3,intron_variant,,ENST00000443323,;MAGEC3,upstream_gene_variant,,ENST00000409007,;MAGEC3,non_coding_transcript_exon_variant,,ENST00000483584,;	T	ENST00000298296	Transcript	stop_gained	994/1932	994/1932	332/643	E/*	Gag/Tag	COSM1214232	1		1	MAGEC3	HGNC	HGNC:23798	protein_coding	YES	CCDS14676.1	ENSP00000298296	Q8TD91		UPI000006E09B	NM_138702.1			5/8		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF86,SMART_domains:SM01373											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	28	141895353	141895353	G	T	1	0	0	0	0	0	1	0	0	9100	1175	41	2		2	MAGEC3	23	141895353	Nonsense_Mutation	SNP	G	C3L-01889_TP	11879414	141895353	14145542	205	8313											
SLITRK4	0	.	GRCh38	chrX	143629294	143629294	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaggacttcgaatgggAcccaaaggagtggtgaatgt	12	7	15	7	1	0	1	0	1	0	0	1	6	0	5	2	5	0	0	2	5	3	1	novel		C3L-01889_TP	C3L-01889_NB	A	A																c.1815T>C	p.=	p.G605G	ENST00000596188	2/2	205	154	51	220	220	0	strelka-varscan-mutect	SLITRK4,synonymous_variant,p.=,ENST00000596188,NM_001184750.2;SLITRK4,synonymous_variant,p.=,ENST00000338017,NM_173078.4;SLITRK4,synonymous_variant,p.=,ENST00000356928,NM_001184749.2;	G	ENST00000596188	Transcript	synonymous_variant	2041/8545	1815/2514	605/837	G	ggT/ggC		1		-1	SLITRK4	HGNC	HGNC:23502	protein_coding	YES	CCDS14679.1	ENSP00000469205	Q8IW52		UPI000004E650	NM_001184750.2			2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	28	143629294	143629294	A	G	1	0	0	0	0	0	0	0	1	15036	262	10	5		5	SLITRK4	23	143629294	Silent	SNP	A	C3L-01889_TP	1733941	143629294	12411601	206	8314											
AFF2	0	.	GRCh38	chrX	148956175	148956175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaaagtctcgggaattCattgaaacagattcatctac	13	11	8	9	1	4	2	2	1	2	1	5	3	4	3	1	1	3	0	1	1	4	4			C3L-01889_TP	C3L-01889_NB	C	C																c.2130C>A	p.Phe710Leu	p.F710L	ENST00000370460	11/21	346	257	89	364	363	1	strelka-varscan-mutect	AFF2,missense_variant,p.Phe710Leu,ENST00000370460,NM_001169123.1,NM_002025.3;AFF2,missense_variant,p.Phe351Leu,ENST00000286437,NM_001170628.1;AFF2,missense_variant,p.Phe677Leu,ENST00000342251,NM_001169122.1;AFF2,missense_variant,p.Phe675Leu,ENST00000370457,NM_001169124.1,NM_001169125.1;	A	ENST00000370460	Transcript	missense_variant	2609/13746	2130/3936	710/1311	F/L	ttC/ttA	COSM4477189,COSM4477190,COSM4477191	1		1	AFF2	HGNC	HGNC:3776	protein_coding	YES	CCDS14684.1	ENSP00000359489	P51816		UPI000049E130	NM_001169123.1,NM_002025.3	deleterious(0)		11/21		hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF18,Pfam_domain:PF05110											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												A	3	1	28	148956175	148956175	C	A	1	0	0	0	0	1	0	0	0	434	825	29	2		2	AFF2	23	148956175	Missense_Mutation	SNP	C	C3L-01889_TP	5326881	148956175	7084720	207	8315											
MMEL1	0	.	GRCh38	chr1	2629479	2629479	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccactgggccttcggacttCcccatcagcagggctctgga	6	8	11	16	1	2	0	1	0	1	0	4	2	3	2	4	4	1	2	4	4	0	2	rs562014966		C3L-01924_TP	C3L-01924_NB	C	C																c.6G>T	p.=	p.G2G	ENST00000378412	2/24	68	49	19	50	50	0	strelka-varscan-mutect	MMEL1,synonymous_variant,p.=,ENST00000378412,NM_033467.3;MMEL1,synonymous_variant,p.=,ENST00000502556,;RP13-436F16.1,upstream_gene_variant,,ENST00000427302,;MMEL1,downstream_gene_variant,,ENST00000511099,;MMEL1,synonymous_variant,p.=,ENST00000504800,;	A	ENST00000378412	Transcript	synonymous_variant	168/2849	6/2340	2/779	G	ggG/ggT	rs562014966	1		-1	MMEL1	HGNC	HGNC:14668	protein_coding	YES	CCDS30569.2	ENSP00000367668	Q495T6		UPI0000047596	NM_033467.3			2/24																			LOW	1	SNV	2			1										PASS		rs562014966	.												A	2	1	29	2629479	2629479	C	A	1	0	0	0	0	0	0	0	1	9609	842	30	2		2	MMEL1	1	2629479	Silent	SNP	C	C3L-01924_TP		2629479	246326943	1	8316											
ACTRT2	0	.	GRCh38	chr1	3022272	3022272	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacggagctcctcatgcagCtgctcctggccagcggccac	6	7	11	17	2	2	0	2	0	0	0	4	1	4	1	4	3	5	4	4	3	0	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.586C>A	p.Leu196Met	p.L196M	ENST00000378404	1/1	118	77	41	162	162	0	strelka-varscan-mutect	ACTRT2,missense_variant,p.Leu196Met,ENST00000378404,NM_080431.4;	A	ENST00000378404	Transcript	missense_variant	790/1421	586/1134	196/377	L/M	Ctg/Atg		1		1	ACTRT2	HGNC	HGNC:24026	protein_coding	YES	CCDS45.1	ENSP00000367658	Q8TDY3		UPI0000070494	NM_080431.4	deleterious(0.02)		1/1		Gene3D:3.90.640.10,Pfam_domain:PF00022,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF38,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	29	3022272	3022272	C	A	1	0	0	0	0	1	0	0	0	262	796	28	2		2	ACTRT2	1	3022272	Missense_Mutation	SNP	C	C3L-01924_TP	392793	3022272	245934150	2	8317											
ACTRT2	0	.	GRCh38	chr1	3022752	3022752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctctgagtagcttcaagCagatgtgggtcaccgccgca	8	9	11	13	2	3	2	2	1	1	1	4	2	3	2	3	1	2	4	3	1	2	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1066C>A	p.Gln356Lys	p.Q356K	ENST00000378404	1/1	153	143	10	179	179	0	strelka-mutect	ACTRT2,missense_variant,p.Gln356Lys,ENST00000378404,NM_080431.4;	A	ENST00000378404	Transcript	missense_variant	1270/1421	1066/1134	356/377	Q/K	Cag/Aag		1		1	ACTRT2	HGNC	HGNC:24026	protein_coding	YES	CCDS45.1	ENSP00000367658	Q8TDY3		UPI0000070494	NM_080431.4	tolerated(0.11)		1/1		Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF38,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	29	3022752	3022752	C	A	1	0	0	0	0	1	0	0	0	262	711	25	2		2	ACTRT2	1	3022752	Missense_Mutation	SNP	C	C3L-01924_TP	480	3022752	245933670	3	8318											
CHD5	0	.	GRCh38	chr1	6131694	6131694	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccaccatcaatccgctcatActtgtagccttcgtactcca	9	11	5	16	2	2	0	2	0	0	0	5	0	4	0	5	0	3	3	5	0	4	5	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.3199T>A	p.Tyr1067Asn	p.Y1067N	ENST00000262450	21/42	110	98	12	115	115	0	strelka-varscan-mutect	CHD5,missense_variant,p.Tyr1067Asn,ENST00000262450,NM_015557.2;CHD5,missense_variant,p.Tyr1067Asn,ENST00000496404,;CHD5,missense_variant,p.Tyr450Asn,ENST00000462991,;CHD5,missense_variant,p.Tyr16Asn,ENST00000377999,;CHD5,upstream_gene_variant,,ENST00000491020,;	T	ENST00000262450	Transcript	missense_variant	3299/9646	3199/5865	1067/1954	Y/N	Tat/Aat		1		-1	CHD5	HGNC	HGNC:16816	protein_coding	YES	CCDS57.1	ENSP00000262450	Q8TDI0		UPI000006CD03	NM_015557.2	deleterious(0)		21/42		Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	6131694	6131694	A	T	1	0	0	0	0	1	0	0	0	3087	391	14	4		4	CHD5	1	6131694	Missense_Mutation	SNP	A	C3L-01924_TP	3108942	6131694	242824728	4	8319											
GPR153	0	.	GRCh38	chr1	6253913	6253913	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacctgcacggccagcgtCtggaagagggcgatggctgt	7	6	15	13	3	1	1	0	0	1	1	1	3	1	2	3	4	2	2	3	4	1	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.591G>T	p.Gln197His	p.Q197H	ENST00000377893	3/6	147	116	31	141	141	0	strelka-varscan-mutect	GPR153,missense_variant,p.Gln197His,ENST00000377893,NM_207370.2;	A	ENST00000377893	Transcript	missense_variant	851/4082	591/1830	197/609	Q/H	caG/caT		1		-1	GPR153	HGNC	HGNC:23618	protein_coding	YES	CCDS64.1	ENSP00000367125	Q6NV75	A0A0I9QQ03	UPI000040E9D7	NM_207370.2	tolerated(0.1)		3/6		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01992,PROSITE_profiles:PS50262,hmmpanther:PTHR16518,hmmpanther:PTHR16518:SF5,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		rs1218269797	.												A	3	1	29	6253913	6253913	C	A	1	0	0	0	0	1	0	0	0	6545	912	32	2		2	GPR153	1	6253913	Missense_Mutation	SNP	C	C3L-01924_TP	122219	6253913	242702509	5	8320											
PIK3CD	0	.	GRCh38	chr1	9722020	9722020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaatgacttcgtcaagCtgagctctcagaagaccccc	10	8	8	15	1	2	5	2	3	1	2	4	5	2	5	3	0	2	2	3	0	3	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2101C>A	p.Leu701Met	p.L701M	ENST00000377346	17/24	494	383	111	493	493	0	strelka-varscan-mutect	PIK3CD,missense_variant,p.Leu725Met,ENST00000536656,;PIK3CD,missense_variant,p.Leu725Met,ENST00000628140,;PIK3CD,missense_variant,p.Leu701Met,ENST00000377346,NM_005026.3;PIK3CD,missense_variant,p.Leu725Met,ENST00000361110,;PIK3CD,missense_variant,p.Leu725Met,ENST00000543390,;PIK3CD,downstream_gene_variant,,ENST00000479223,;	A	ENST00000377346	Transcript	missense_variant	2296/5203	2101/3135	701/1044	L/M	Ctg/Atg		1		1	PIK3CD	HGNC	HGNC:8977	protein_coding	YES	CCDS104.1	ENSP00000366563	O00329		UPI000013E807	NM_005026.3	tolerated(0.1)		17/24		hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF35,Gene3D:3.30.1010.10,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	9722020	9722020	C	A	1	0	0	0	0	1	0	0	0	12010	796	28	2		2	PIK3CD	1	9722020	Missense_Mutation	SNP	C	C3L-01924_TP	3468107	9722020	239234402	6	8321											
DISP3	0	.	GRCh38	chr1	11501132	11501132	+	Missense_Mutation	SNP	G	G	A																															agggggacagtgttgctggcGgcactggcccctggcttccc																										C3L-01924_TP	C3L-01924_NB	G	G																c.140G>A	p.Arg47Gln	p.R47Q	ENST00000294484	2/21	169	150	19	186	186	0	strelka-varscan-mutect	DISP3,missense_variant,p.Arg47Gln,ENST00000294484,NM_020780.1;	A	ENST00000294484	Transcript	missense_variant	278/5215	140/4179	47/1392	R/Q	cGg/cAg	COSM246851	1		1	DISP3	HGNC	HGNC:29251	protein_coding	YES	CCDS41247.1	ENSP00000294484	Q9P2K9		UPI00001C1D7A	NM_020780.1	tolerated_low_confidence(0.07)		2/21		hmmpanther:PTHR10796:SF125,hmmpanther:PTHR10796											1						MODERATE	1	SNV	1		1	1										PASS		rs1372854383	.												A	3	1	29	11501132	11501132	G	A	1	0	0	0	0	1	0	0	0	4347	1116	39	1		1	DISP3	1	11501132	Missense_Mutation	SNP	G	C3L-01924_TP	1779112	11501132	237455290	7	8322	192	2									
DISP3	0	.	GRCh38	chr1	11501133	11501133	+	Silent	SNP	G	G	T																															gggggacagtgttgctggcgGcactggcccctggcttcccg																								novel		C3L-01924_TP	C3L-01924_NB	G	G																c.141G>T	p.=	p.R47R	ENST00000294484	2/21	166	149	17	188	188	0	strelka-varscan-mutect	DISP3,synonymous_variant,p.=,ENST00000294484,NM_020780.1;	T	ENST00000294484	Transcript	synonymous_variant	279/5215	141/4179	47/1392	R	cgG/cgT		1		1	DISP3	HGNC	HGNC:29251	protein_coding	YES	CCDS41247.1	ENSP00000294484	Q9P2K9		UPI00001C1D7A	NM_020780.1			2/21		hmmpanther:PTHR10796:SF125,hmmpanther:PTHR10796																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	11501133	11501133	G	T	1	0	0	0	0	0	0	0	1	4347	1190	42	2		2	DISP3	1	11501133	Silent	SNP	G	C3L-01924_TP	1	11501133	237455289	8	8323	192	2									
AADACL4	0	.	GRCh38	chr1	12661839	12661839	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccgggagactgaatctgTacttctgatgattgggtgag	8	11	15	7	1	2	5	0	4	2	1	2	6	2	5	1	3	1	1	1	3	2	3	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.434T>A	p.Val145Glu	p.V145E	ENST00000376221	3/4	255	229	26	269	269	0	strelka-mutect	AADACL4,missense_variant,p.Val145Glu,ENST00000376221,NM_001013630.1;	A	ENST00000376221	Transcript	missense_variant	434/1575	434/1224	145/407	V/E	gTa/gAa		1		1	AADACL4	HGNC	HGNC:32038	protein_coding	YES	CCDS30590.1	ENSP00000365395	Q5VUY2		UPI0000160609	NM_001013630.1	deleterious(0)		3/4		hmmpanther:PTHR23024:SF197,hmmpanther:PTHR23024,PIRSF_domain:PIRSF037251,Gene3D:3.40.50.1820,Pfam_domain:PF07859,Superfamily_domains:SSF53474																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	12661839	12661839	T	A	1	0	0	0	0	1	0	0	0	13	1638	57	4		4	AADACL4	1	12661839	Missense_Mutation	SNP	T	C3L-01924_TP	1160706	12661839	236294583	9	8324											
PRAMEF6	0	.	GRCh38	chr1	12938784	12938784	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccttaagtccctcactCtcttcatcagctcagcccta	7	12	6	16	0	5	0	4	0	1	0	7	0	6	0	3	1	3	1	3	1	2	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1322G>T	p.Arg441Ile	p.R441I	ENST00000376189	4/4	937	831	106	933	933	0	varscan-mutect	PRAMEF6,missense_variant,p.Arg441Ile,ENST00000376189,NM_001010889.2;PRAMEF6,missense_variant,p.Arg441Ile,ENST00000415464,;	A	ENST00000376189	Transcript	missense_variant	1408/1720	1322/1431	441/476	R/I	aGa/aTa		1		-1	PRAMEF6	HGNC	HGNC:30583	protein_coding	YES	CCDS30594.1	ENSP00000365360	Q5VXH4		UPI0000418E57	NM_001010889.2	tolerated(1)		4/4		PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	12938784	12938784	C	A	1	0	0	0	0	1	0	0	0	12568	913	32	2		2	PRAMEF6	1	12938784	Missense_Mutation	SNP	C	C3L-01924_TP	276945	12938784	236017638	10	8325											
PRAMEF15	0	.	GRCh38	chr1	13322198	13322198	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggatcttgttctgtacTgactactgccctgactgtgg	8	13	11	9	0	2	3	0	2	2	1	2	4	2	4	1	2	3	2	1	2	3	4	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1371T>A	p.=	p.T457T	ENST00000376152	4/4	215	192	23	267	267	0	varscan-mutect	PRAMEF15,synonymous_variant,p.=,ENST00000376152,NM_001098376.2;PRAMEF15,synonymous_variant,p.=,ENST00000613530,;RP11-219C24.10,upstream_gene_variant,,ENST00000432559,;	A	ENST00000376152	Transcript	synonymous_variant	1465/1865	1371/1437	457/478	T	acT/acA		1		1	PRAMEF15	HGNC	HGNC:26764	protein_coding	YES	CCDS44059.1	ENSP00000365322	Q5VWM5		UPI0000199BA7	NM_001098376.2			4/4		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF19,PIRSF_domain:PIRSF038286																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	29	13322198	13322198	T	A	1	0	0	0	0	0	0	0	1	12559	1567	55	4		4	PRAMEF15	1	13322198	Silent	SNP	T	C3L-01924_TP	383414	13322198	235634224	11	8326											
ATP13A2	0	.	GRCh38	chr1	16988339	16988339	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgatgaccatgggcacGcactcaatactggccatgct	10	9	9	13	1	1	2	1	2	0	0	1	2	1	2	3	2	3	3	3	2	3	2	rs372361807		C3L-01924_TP	C3L-01924_NB	G	G																c.2745C>T	p.=	p.C915C	ENST00000326735	24/29	651	618	33	627	626	1	strelka-varscan-mutect	ATP13A2,synonymous_variant,p.=,ENST00000452699,NM_001141973.2;ATP13A2,synonymous_variant,p.=,ENST00000326735,NM_022089.3;ATP13A2,synonymous_variant,p.=,ENST00000341676,NM_001141974.2;ATP13A2,synonymous_variant,p.=,ENST00000502418,;ATP13A2,downstream_gene_variant,,ENST00000503552,;RP1-37C10.3,intron_variant,,ENST00000446261,;ATP13A2,non_coding_transcript_exon_variant,,ENST00000466561,;	A	ENST00000326735	Transcript	synonymous_variant	2779/3840	2745/3543	915/1180	C	tgC/tgT	rs372361807,COSM1560446,COSM4225870	1		-1	ATP13A2	HGNC	HGNC:30213	protein_coding	YES	CCDS175.1	ENSP00000327214	Q9NQ11		UPI0000049724	NM_022089.3			24/29		Gene3D:3.40.50.1000,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01657											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs372361807	.												A	2	1	29	16988339	16988339	G	A	1	0	0	0	0	0	0	0	1	1276	1079	38	1		1	ATP13A2	1	16988339	Silent	SNP	G	C3L-01924_TP	3666141	16988339	231968083	12	8327											
SH2D5	0	.	GRCh38	chr1	20724563	20724563	+	Frame_Shift_Del	DEL	C	C	-																															tgggcagggctctggctgtgCccgctcctcagggtgctgca																								novel		C3L-01924_TP	C3L-01924_NB	C	C																c.463delG	p.Ala155HisfsTer15	p.A155Hfs*15	ENST00000444387	6/10	126	102	24	100	100	0	sindel-varindel	SH2D5,frameshift_variant,p.Ala71HisfsTer15,ENST00000375031,NM_001103160.1;SH2D5,frameshift_variant,p.Ala155HisfsTer15,ENST00000444387,NM_001103161.1;SH2D5,downstream_gene_variant,,ENST00000517430,;SH2D5,downstream_gene_variant,,ENST00000447746,;SH2D5,downstream_gene_variant,,ENST00000519434,;SH2D5,downstream_gene_variant,,ENST00000518294,;SH2D5,non_coding_transcript_exon_variant,,ENST00000460804,;	-	ENST00000444387	Transcript	frameshift_variant	861/1934	463/1272	155/423	A/X	Gca/ca		1		-1	SH2D5	HGNC	HGNC:28819	protein_coding	YES	CCDS44080.1	ENSP00000406026	Q6ZV89		UPI0000EE70C3	NM_001103161.1			6/10		SMART_domains:SM00462																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	29	20724563	20724563	C	-	1	0	1	0	1	0	0	0	0	14495	739	26	0		0	SH2D5	1	20724563	Frame_Shift_Del	DEL	C	C3L-01924_TP	3736224	20724563	228231859	13	8328	193	2									
SH2D5	0	.	GRCh38	chr1	20724564	20724564	+	Silent	SNP	C	C	A																															gggcagggctctggctgtgcCcgctcctcagggtgctgcaa																								novel		C3L-01924_TP	C3L-01924_NB	C	C																c.462G>T	p.=	p.R154R	ENST00000444387	6/10	134	110	24	101	101	0	strelka-mutect	SH2D5,synonymous_variant,p.=,ENST00000375031,NM_001103160.1;SH2D5,synonymous_variant,p.=,ENST00000444387,NM_001103161.1;SH2D5,downstream_gene_variant,,ENST00000517430,;SH2D5,downstream_gene_variant,,ENST00000447746,;SH2D5,downstream_gene_variant,,ENST00000519434,;SH2D5,downstream_gene_variant,,ENST00000518294,;SH2D5,non_coding_transcript_exon_variant,,ENST00000460804,;	A	ENST00000444387	Transcript	synonymous_variant	860/1934	462/1272	154/423	R	cgG/cgT		1		-1	SH2D5	HGNC	HGNC:28819	protein_coding	YES	CCDS44080.1	ENSP00000406026	Q6ZV89		UPI0000EE70C3	NM_001103161.1			6/10		SMART_domains:SM00462																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	29	20724564	20724564	C	A	1	0	0	0	0	0	0	0	1	14495	610	22	2		2	SH2D5	1	20724564	Silent	SNP	C	C3L-01924_TP	1	20724564	228231858	14	8329	193	2									
GPR3	0	.	GRCh38	chr1	27393973	27393973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggtgtcctgcgagaatGcgctagtggtggccatcatc	6	10	13	12	2	1	1	1	0	0	1	3	2	2	1	3	3	2	1	3	3	2	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.175G>T	p.Ala59Ser	p.A59S	ENST00000374024	2/2	92	84	8	120	120	0	strelka-varscan-mutect	GPR3,missense_variant,p.Ala59Ser,ENST00000374024,NM_005281.3;RP1-144C9.2,downstream_gene_variant,,ENST00000443746,;	T	ENST00000374024	Transcript	missense_variant	274/2115	175/993	59/330	A/S	Gcg/Tcg		1		1	GPR3	HGNC	HGNC:4484	protein_coding	YES	CCDS303.1	ENSP00000363136	P46089	F1DAM5	UPI0000001624	NM_005281.3	tolerated(0.08)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF39,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	27393973	27393973	G	T	1	0	0	0	0	1	0	0	0	6570	1319	46	2		2	GPR3	1	27393973	Missense_Mutation	SNP	G	C3L-01924_TP	6669409	27393973	221562449	15	8330											
CLSPN	0	.	GRCh38	chr1	35746850	35746850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcctgggtagatgtttttCagcctgagatgtgaactttc	7	16	10	8	0	1	3	1	2	0	2	3	4	2	3	2	1	2	2	2	1	2	5	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2770G>A	p.Glu924Lys	p.E924K	ENST00000318121	15/25	366	279	87	409	409	0	strelka-varscan-mutect	CLSPN,missense_variant,p.Glu924Lys,ENST00000251195,;CLSPN,missense_variant,p.Glu924Lys,ENST00000318121,NM_022111.3;CLSPN,missense_variant,p.Glu871Lys,ENST00000520551,;CLSPN,missense_variant,p.Glu860Lys,ENST00000373220,NM_001190481.1;RP11-435D7.3,downstream_gene_variant,,ENST00000373226,;CLSPN,downstream_gene_variant,,ENST00000517467,;	T	ENST00000318121	Transcript	missense_variant	2828/4169	2770/4020	924/1339	E/K	Gaa/Aaa		1		-1	CLSPN	HGNC	HGNC:19715	protein_coding	YES	CCDS396.1	ENSP00000312995	Q9HAW4		UPI0000161087	NM_022111.3	tolerated(0.15)		15/25		hmmpanther:PTHR14396:SF10,hmmpanther:PTHR14396																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	35746850	35746850	C	T	1	0	0	0	0	1	0	0	0	3332	835	29	3		3	CLSPN	1	35746850	Missense_Mutation	SNP	C	C3L-01924_TP	8352877	35746850	213209572	16	8331											
HIVEP3	0	.	GRCh38	chr1	41584133	41584133	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaagccacaggggccgCaggggtagggcctctcacct	9	4	16	12	1	1	1	1	0	1	1	2	2	1	1	4	6	1	2	4	6	2	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.665G>T	p.Cys222Phe	p.C222F	ENST00000372583	4/9	226	198	28	221	221	0	strelka-varscan-mutect	HIVEP3,missense_variant,p.Cys222Phe,ENST00000372584,NM_001127714.2;HIVEP3,missense_variant,p.Cys222Phe,ENST00000372583,NM_024503.4;HIVEP3,upstream_gene_variant,,ENST00000460604,;	A	ENST00000372583	Transcript	missense_variant	1551/12193	665/7221	222/2406	C/F	tGc/tTc		1		-1	HIVEP3	HGNC	HGNC:13561	protein_coding	YES	CCDS463.1	ENSP00000361664	Q5T1R4		UPI000013CC24	NM_024503.4	deleterious(0)		4/9		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	41584133	41584133	C	A	1	0	0	0	0	1	0	0	0	7077	710	25	2		2	HIVEP3	1	41584133	Missense_Mutation	SNP	C	C3L-01924_TP	5837283	41584133	207372289	17	8332											
CDC20	0	.	GRCh38	chr1	43363040	43363040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagaccctgaggctatggCgctgttttgagttggaccct	7	12	13	9	1	0	3	0	3	0	1	0	5	0	4	2	3	0	4	2	3	1	4	rs761756771		C3L-01924_TP	C3L-01924_NB	C	C																c.1411C>T	p.Arg471Cys	p.R471C	ENST00000372462	10/10	129	114	15	138	138	0	strelka-varscan-mutect	CDC20,missense_variant,p.Arg471Cys,ENST00000372462,;CDC20,missense_variant,p.Arg471Cys,ENST00000310955,NM_001255.2;ELOVL1,downstream_gene_variant,,ENST00000621943,NM_001256399.1;ELOVL1,downstream_gene_variant,,ENST00000372458,NM_001256402.1,NM_022821.3;ELOVL1,downstream_gene_variant,,ENST00000413844,NM_001256401.1;ELOVL1,downstream_gene_variant,,ENST00000621166,;RP1-92O14.3,upstream_gene_variant,,ENST00000424948,;CDC20,non_coding_transcript_exon_variant,,ENST00000482046,;ELOVL1,downstream_gene_variant,,ENST00000470769,;ELOVL1,downstream_gene_variant,,ENST00000464204,;ELOVL1,downstream_gene_variant,,ENST00000482302,;ELOVL1,downstream_gene_variant,,ENST00000497050,;ELOVL1,downstream_gene_variant,,ENST00000470968,;ELOVL1,downstream_gene_variant,,ENST00000497569,;ELOVL1,downstream_gene_variant,,ENST00000487209,;ELOVL1,downstream_gene_variant,,ENST00000468865,;ELOVL1,downstream_gene_variant,,ENST00000496932,;CDC20,downstream_gene_variant,,ENST00000478882,;ELOVL1,downstream_gene_variant,,ENST00000465321,;ELOVL1,downstream_gene_variant,,ENST00000479439,;ELOVL1,downstream_gene_variant,,ENST00000478481,;ELOVL1,downstream_gene_variant,,ENST00000479686,;	T	ENST00000372462	Transcript	missense_variant	1614/1777	1411/1500	471/499	R/C	Cgc/Tgc	rs761756771,COSM1736946	1		1	CDC20	HGNC	HGNC:1723	protein_coding	YES	CCDS484.1	ENSP00000361540	Q12834		UPI0000072C04		deleterious(0)		10/10		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR19918,hmmpanther:PTHR19918:SF3,SMART_domains:SM00320,Superfamily_domains:SSF50978											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs761756771	.												T	3	4	29	43363040	43363040	C	T	1	0	0	0	0	1	0	0	0	2762	768	27	1		1	CDC20	1	43363040	Missense_Mutation	SNP	C	C3L-01924_TP	1778907	43363040	205593382	18	8333											
CYP4A22	0	.	GRCh38	chr1	47145920	47145920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacaacccaaaagtgtggcCcaacctagaggtatgtggtc	12	7	10	12	0	0	1	0	0	0	1	1	1	0	1	4	3	2	1	4	3	6	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1277C>A	p.Pro426His	p.P426H	ENST00000371891	10/12	159	132	27	184	183	1	strelka-varscan-mutect	CYP4A22,missense_variant,p.Pro426His,ENST00000371891,NM_001010969.2;CYP4A22,missense_variant,p.Pro328His,ENST00000619754,NM_001308102.1;CYP4A22,missense_variant,p.Pro328His,ENST00000371890,;CYP4A22,missense_variant,p.Pro427His,ENST00000620131,;CYP4A22,missense_variant,p.Pro426His,ENST00000294337,;CYP4A22-AS1,intron_variant,,ENST00000444042,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000485117,;CYP4A22,non_coding_transcript_exon_variant,,ENST00000490948,;	A	ENST00000371891	Transcript	missense_variant	1308/2535	1277/1560	426/519	P/H	cCc/cAc		1		1	CYP4A22	HGNC	HGNC:20575	protein_coding	YES	CCDS30707.1	ENSP00000360958	Q5TCH4		UPI00002371F0	NM_001010969.2	deleterious(0.01)		10/12		hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF39,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	47145920	47145920	C	A	1	0	0	0	0	1	0	0	0	3987	623	22	2		2	CYP4A22	1	47145920	Missense_Mutation	SNP	C	C3L-01924_TP	3782880	47145920	201810502	19	8334											
ZYG11A	0	.	GRCh38	chr1	52857404	52857404	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctagtcactgatatttcTgcactgcttacctgtaagga	10	14	7	10	0	3	1	1	1	2	0	3	2	3	2	1	1	3	3	1	1	4	5	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.663T>C	p.=	p.S221S	ENST00000371528	3/14	126	118	8	157	157	0	strelka-varscan-mutect	ZYG11A,synonymous_variant,p.=,ENST00000371528,NM_001004339.2;ZYG11A,intron_variant,,ENST00000371532,;ZYG11A,intron_variant,,ENST00000612017,;	C	ENST00000371528	Transcript	synonymous_variant	811/4469	663/2280	221/759	S	tcT/tcC		1		1	ZYG11A	HGNC	HGNC:32058	protein_coding	YES	CCDS44148.1	ENSP00000360583	Q6WRX3		UPI000066D8BB	NM_001004339.2			3/14		Gene3D:3.80.10.10,hmmpanther:PTHR12904,hmmpanther:PTHR12904:SF20,Superfamily_domains:SSF52047																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	29	52857404	52857404	T	C	1	0	0	0	0	0	0	0	1	18856	1567	55	5		5	ZYG11A	1	52857404	Silent	SNP	T	C3L-01924_TP	5711484	52857404	196099018	20	8335											
MROH7	0	.	GRCh38	chr1	54701190	54701190	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatggtgaagggcctgaaGaacatggatgggatgctggt	10	9	16	6	0	0	3	0	2	0	1	1	5	1	5	2	5	2	1	2	5	3	0	rs776782420		C3L-01924_TP	C3L-01924_NB	G	G																c.3153G>A	p.=	p.K1051K	ENST00000421030	19/24	126	116	10	122	122	0	strelka-varscan-mutect	MROH7,synonymous_variant,p.=,ENST00000421030,NM_001039464.3;MROH7,synonymous_variant,p.=,ENST00000409996,NM_001291332.1;MROH7,downstream_gene_variant,,ENST00000339553,;MROH7,downstream_gene_variant,,ENST00000395690,;MROH7-TTC4,synonymous_variant,p.=,ENST00000414150,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000425300,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000606515,;MROH7,3_prime_UTR_variant,,ENST00000413188,;MROH7,3_prime_UTR_variant,,ENST00000422659,;MROH7,3_prime_UTR_variant,,ENST00000440047,;MROH7,3_prime_UTR_variant,,ENST00000440217,;MROH7,non_coding_transcript_exon_variant,,ENST00000371287,;MROH7-TTC4,non_coding_transcript_exon_variant,,ENST00000460155,;MROH7,downstream_gene_variant,,ENST00000438846,;	A	ENST00000421030	Transcript	synonymous_variant	3438/4329	3153/3972	1051/1323	K	aaG/aaA	rs776782420	1		1	MROH7	HGNC	HGNC:24802	protein_coding	YES	CCDS41342.2	ENSP00000396622	Q68CQ1		UPI000198C4E2	NM_001039464.3			19/24		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF17,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	LOW	1	SNV	2			1										PASS		rs776782420	.												A	2	1	29	54701190	54701190	G	A	1	0	0	0	0	0	0	0	1	9747	933	33	3		3	MROH7	1	54701190	Silent	SNP	G	C3L-01924_TP	1843786	54701190	194255232	21	8336											
C8A	0	.	GRCh38	chr1	56883652	56883652	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcacaagacacttcattcTtgaacgaattaaacaagtat	17	11	4	9	1	3	2	2	1	1	1	3	3	3	2	0	0	2	1	0	0	7	5	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.826T>G	p.Leu276Val	p.L276V	ENST00000361249	6/11	184	168	16	249	248	1	strelka-varscan-mutect	C8A,missense_variant,p.Leu276Val,ENST00000361249,NM_000562.2;	G	ENST00000361249	Transcript	missense_variant	922/2356	826/1755	276/584	L/V	Ttg/Gtg		1		1	C8A	HGNC	HGNC:1352	protein_coding	YES	CCDS606.1	ENSP00000354458	P07357		UPI0000127C5A	NM_000562.2	tolerated(0.08)		6/11		PROSITE_profiles:PS51412,hmmpanther:PTHR19325:SF385,hmmpanther:PTHR19325,Pfam_domain:PF01823																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	56883652	56883652	T	G	1	0	0	0	0	1	0	0	0	2150	1606	56	5		5	C8A	1	56883652	Missense_Mutation	SNP	T	C3L-01924_TP	2182462	56883652	192072770	22	8337											
DAB1	0	.	GRCh38	chr1	57010774	57010774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggatcactgttggatgagGcctgtgatccatcaggctag	9	11	13	8	0	2	2	2	2	0	0	3	4	3	4	2	4	0	2	2	4	1	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1589C>T	p.Ala530Val	p.A530V	ENST00000371236	14/15	32	26	6	38	38	0	strelka-varscan-mutect	DAB1,missense_variant,p.Ala530Val,ENST00000371236,;DAB1,missense_variant,p.Ala530Val,ENST00000414851,NM_021080.3;DAB1,missense_variant,p.Ala528Val,ENST00000420954,;DAB1,missense_variant,p.Ala563Val,ENST00000371231,;DAB1,downstream_gene_variant,,ENST00000371232,;DAB1,non_coding_transcript_exon_variant,,ENST00000485760,;	A	ENST00000371236	Transcript	missense_variant	1853/5298	1589/1668	530/555	A/V	gCc/gTc		1		-1	DAB1	HGNC	HGNC:2661	protein_coding	YES	CCDS607.1	ENSP00000360280	O75553		UPI000013EE33		tolerated(0.05)		14/15		hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF40																	MODERATE	1	SNV	5			1										PASS		rs1187002473	.												A	3	1	29	57010774	57010774	G	A	1	0	0	0	0	1	0	0	0	4018	1203	42	3		3	DAB1	1	57010774	Missense_Mutation	SNP	G	C3L-01924_TP	127122	57010774	191945648	23	8338											
DOCK7	0	.	GRCh38	chr1	62474045	62474045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaagagctttgggtcaCtaggtatttcagacagaaaa	13	11	11	6	0	3	4	2	1	1	3	3	4	3	4	0	2	1	2	0	2	5	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.6116G>T	p.Ser2039Ile	p.S2039I	ENST00000454575	47/49	140	126	14	173	172	1	strelka-varscan-mutect	DOCK7,missense_variant,p.Ser2041Ile,ENST00000251157,;DOCK7,missense_variant,p.Ser2039Ile,ENST00000454575,NM_001271999.1;DOCK7,missense_variant,p.Ser2019Ile,ENST00000340370,NM_033407.3;DOCK7,missense_variant,p.Ser2050Ile,ENST00000635253,;DOCK7,missense_variant,p.Ser2010Ile,ENST00000634264,NM_001272000.1;DOCK7,missense_variant,p.Ser2008Ile,ENST00000635123,NM_001272001.1;DOCK7,missense_variant,p.Ser1139Ile,ENST00000637255,;DOCK7,non_coding_transcript_exon_variant,,ENST00000634495,;DOCK7,downstream_gene_variant,,ENST00000637839,;DOCK7,downstream_gene_variant,,ENST00000637487,;DOCK7,downstream_gene_variant,,ENST00000636370,;DOCK7,upstream_gene_variant,,ENST00000637306,;DOCK7,downstream_gene_variant,,ENST00000638042,;DOCK7,non_coding_transcript_exon_variant,,ENST00000635983,;DOCK7,non_coding_transcript_exon_variant,,ENST00000489185,;DOCK7,downstream_gene_variant,,ENST00000467758,;DOCK7,downstream_gene_variant,,ENST00000635088,;	A	ENST00000454575	Transcript	missense_variant	6127/6985	6116/6390	2039/2129	S/I	aGt/aTt		1		-1	DOCK7	HGNC	HGNC:19190	protein_coding	YES	CCDS60156.1	ENSP00000413583	Q96N67	H0Y7L2	UPI0000E45660	NM_001271999.1	tolerated(0.1)		47/49		PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317,Pfam_domain:PF06920																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	62474045	62474045	C	A	1	0	0	0	0	1	0	0	0	4507	565	20	2		2	DOCK7	1	62474045	Missense_Mutation	SNP	C	C3L-01924_TP	5463271	62474045	186482377	24	8339											
LRRC7	0	.	GRCh38	chr1	70039701	70039701	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgatttaaagacgaggcctActcctgtgaagggagaggag	12	8	15	6	1	0	4	0	2	0	2	1	7	1	5	2	3	1	0	2	3	4	3	rs770654648		C3L-01924_TP	C3L-01924_NB	A	A																c.3763A>T	p.Thr1255Ser	p.T1255S	ENST00000035383	19/25	139	107	32	221	220	1	strelka-varscan-mutect	LRRC7,missense_variant,p.Thr1260Ser,ENST00000310961,;LRRC7,missense_variant,p.Thr1255Ser,ENST00000035383,NM_020794.2;LRRC7,missense_variant,p.Thr539Ser,ENST00000415775,;	T	ENST00000035383	Transcript	missense_variant	3793/5000	3763/4614	1255/1537	T/S	Act/Tct	rs770654648	1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2	tolerated(0.33)		19/25																			MODERATE	1	SNV	1			1										PASS		rs770654648	.												T	3	4	29	70039701	70039701	A	T	1	0	0	0	0	1	0	0	0	8916	391	14	4		4	LRRC7	1	70039701	Missense_Mutation	SNP	A	C3L-01924_TP	7565656	70039701	178916721	25	8340											
LRRIQ3	0	.	GRCh38	chr1	74182603	74182603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctttgaatctttcaggaaGatgccagttctgaattattt	10	17	8	6	0	3	3	1	2	2	1	3	4	3	4	1	1	2	2	1	1	4	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.508C>T	p.Leu170Phe	p.L170F	ENST00000354431	3/8	134	102	32	165	165	0	strelka-varscan-mutect	LRRIQ3,missense_variant,p.Leu170Phe,ENST00000354431,NM_001105659.1;LRRIQ3,missense_variant,p.Leu170Phe,ENST00000395089,;LRRIQ3,missense_variant,p.Leu170Phe,ENST00000370911,;LRRIQ3,intron_variant,,ENST00000370909,;LRRIQ3,intron_variant,,ENST00000444984,;LRRIQ3,non_coding_transcript_exon_variant,,ENST00000495179,;LRRIQ3,missense_variant,p.Leu170Phe,ENST00000415760,;LRRIQ3,non_coding_transcript_exon_variant,,ENST00000463724,;	A	ENST00000354431	Transcript	missense_variant	700/2849	508/1875	170/624	L/F	Ctt/Ttt		1		-1	LRRIQ3	HGNC	HGNC:28318	protein_coding	YES	CCDS41350.1	ENSP00000346414	A6PVS8		UPI000155D493	NM_001105659.1	deleterious(0)		3/8		hmmpanther:PTHR24365																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	74182603	74182603	G	A	1	0	0	0	0	1	0	0	0	8936	942	33	3		3	LRRIQ3	1	74182603	Missense_Mutation	SNP	G	C3L-01924_TP	4142902	74182603	174773819	26	8341											
LRRC53	0	.	GRCh38	chr1	74475677	74475677	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcccttagtgtggtaattTcttgcctcatgagcacacag	9	14	8	10	0	2	1	1	1	1	0	3	1	3	1	2	1	2	2	2	1	3	5	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1038A>T	p.Arg346Ser	p.R346S	ENST00000294635	4/5	69	65	4	86	86	0	varscan-mutect	LRRC53,missense_variant,p.Arg346Ser,ENST00000294635,;TNNI3K,intron_variant,,ENST00000326637,NM_015978.2;FPGT-TNNI3K,intron_variant,,ENST00000557284,NM_001112808.2;	A	ENST00000294635	Transcript	missense_variant	1153/3859	1038/3744	346/1247	R/S	agA/agT		1		-1	LRRC53	HGNC	HGNC:25255	protein_coding	YES		ENSP00000294635	A6NM62		UPI000178DEDE		deleterious(0)		4/5																			MODERATE		SNV	5			1										PASS		.	.												A	3	1	29	74475677	74475677	T	A	1	0	0	0	0	1	0	0	0	8905	1780	62	4		4	LRRC53	1	74475677	Missense_Mutation	SNP	T	C3L-01924_TP	293074	74475677	174480745	27	8342											
ERICH3	0	.	GRCh38	chr1	74641347	74641347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccagtgctaacggactgGaatgtccttcatcaaccaga	12	9	8	12	1	3	1	3	0	0	1	4	3	4	3	3	2	3	1	3	2	3	2	rs755253909		C3L-01924_TP	C3L-01924_NB	G	G																c.428C>A	p.Ser143Tyr	p.S143Y	ENST00000326665	5/15	219	202	17	267	266	1	strelka-varscan-mutect	ERICH3,missense_variant,p.Ser143Tyr,ENST00000326665,NM_001002912.4;	T	ENST00000326665	Transcript	missense_variant	647/7159	428/4593	143/1530	S/Y	tCc/tAc	rs755253909	1		-1	ERICH3	HGNC	HGNC:25346	protein_coding	YES	CCDS30755.1	ENSP00000322609	Q5RHP9		UPI0000237200	NM_001002912.4	deleterious(0)		5/15		hmmpanther:PTHR23034																	MODERATE	1	SNV	5			1										PASS		rs755253909	.												T	3	4	29	74641347	74641347	G	T	1	0	0	0	0	1	0	0	0	5083	1174	41	2		2	ERICH3	1	74641347	Missense_Mutation	SNP	G	C3L-01924_TP	165670	74641347	174315075	28	8343											
GBP4	0	.	GRCh38	chr1	89195374	89195374	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaggtggggcacacaccAcatccagatgcccttagttt	11	8	11	11	0	0	2	0	0	0	2	1	3	1	2	3	3	1	2	3	3	1	2	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.286T>A	p.Trp96Arg	p.W96R	ENST00000355754	3/11	218	192	26	231	231	0	strelka-varscan-mutect	GBP4,missense_variant,p.Trp96Arg,ENST00000355754,NM_052941.4;	T	ENST00000355754	Transcript	missense_variant	384/6127	286/1923	96/640	W/R	Tgg/Agg		1		-1	GBP4	HGNC	HGNC:20480	protein_coding	YES	CCDS721.1	ENSP00000359490	Q96PP9		UPI000013E1A4	NM_052941.4	deleterious(0.02)		3/11		Gene3D:3.40.50.300,Pfam_domain:PF02263,PROSITE_profiles:PS51715,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF17,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	89195374	89195374	A	T	1	0	0	0	0	1	0	0	0	6146	159	6	4		4	GBP4	1	89195374	Missense_Mutation	SNP	A	C3L-01924_TP	14554027	89195374	159761048	29	8344											
ABCA4	0	.	GRCh38	chr1	94098970	94098970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgatgtccttcagcgccaGgtccgggactccatgagcga	7	7	14	13	4	1	1	1	1	0	0	4	4	4	2	4	3	2	0	4	3	0	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.592C>A	p.Leu198Met	p.L198M	ENST00000370225	6/50	288	247	41	304	304	0	strelka-varscan-mutect	ABCA4,missense_variant,p.Leu198Met,ENST00000370225,NM_000350.2;	T	ENST00000370225	Transcript	missense_variant	679/7309	592/6822	198/2273	L/M	Ctg/Atg		1		-1	ABCA4	HGNC	HGNC:34	protein_coding	YES	CCDS747.1	ENSP00000359245	P78363		UPI000012511C	NM_000350.2	tolerated(0.12)		6/50		TIGRFAM_domain:TIGR01257																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	94098970	94098970	G	T	1	0	0	0	0	1	0	0	0	38	991	35	2		2	ABCA4	1	94098970	Missense_Mutation	SNP	G	C3L-01924_TP	4903596	94098970	154857452	30	8345											
AMPD2	0	.	GRCh38	chr1	109621186	109621186	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcccagccatggcatcctAtccatctggctctggcaagc	7	9	10	15	0	2	0	0	0	2	0	5	0	5	0	4	4	2	3	4	4	2	1	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.173A>G	p.Tyr58Cys	p.Y58C	ENST00000256578	1/18	130	123	7	122	121	1	strelka-varscan-mutect	AMPD2,missense_variant,p.Tyr58Cys,ENST00000256578,NM_004037.7;AMPD2,missense_variant,p.Tyr58Cys,ENST00000528667,NM_001257360.1;AMPD2,missense_variant,p.Tyr29Cys,ENST00000369840,;AMPD2,missense_variant,p.Ile27Val,ENST00000358729,NM_001308170.1;AMPD2,intron_variant,,ENST00000342115,NM_139156.3;AMPD2,intron_variant,,ENST00000474459,;AMPD2,intron_variant,,ENST00000531203,;AMPD2,intron_variant,,ENST00000531734,;GNAI3,downstream_gene_variant,,ENST00000369851,NM_006496.3;AMPD2,upstream_gene_variant,,ENST00000393688,NM_203404.1;AMPD2,upstream_gene_variant,,ENST00000528454,NM_001257361.1;AMPD2,upstream_gene_variant,,ENST00000527846,;AMPD2,downstream_gene_variant,,ENST00000469039,;GNAT2,upstream_gene_variant,,ENST00000622865,;AMPD2,intron_variant,,ENST00000526301,;AMPD2,upstream_gene_variant,,ENST00000459643,;AMPD2,missense_variant,p.Tyr12Cys,ENST00000528270,;AMPD2,non_coding_transcript_exon_variant,,ENST00000486282,;AMPD2,upstream_gene_variant,,ENST00000534144,;	G	ENST00000256578	Transcript	missense_variant	533/3899	173/2640	58/879	Y/C	tAt/tGt		1		1	AMPD2	HGNC	HGNC:469	protein_coding	YES	CCDS805.1	ENSP00000256578	Q01433	A0A024R098	UPI0000125956	NM_004037.7	deleterious_low_confidence(0.05)		1/18		PIRSF_domain:PIRSF001251,hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF3,Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	29	109621186	109621186	A	G	1	0	0	0	0	1	0	0	0	684	449	16	5		5	AMPD2	1	109621186	Missense_Mutation	SNP	A	C3L-01924_TP	15522216	109621186	139335236	31	8346											
SLC16A1	0	.	GRCh38	chr1	112917242	112917242	+	Silent	SNP	G	G	T																															gtcaccaatcccacagcgctGgagaacctctggggtccaac																										C3L-01924_TP	C3L-01924_NB	G	G																c.1164C>A	p.=	p.S388S	ENST00000538576	4/5	277	206	71	328	327	1	strelka-varscan-mutect	SLC16A1,synonymous_variant,p.=,ENST00000538576,NM_001166496.1;SLC16A1,synonymous_variant,p.=,ENST00000369626,NM_003051.3;SLC16A1,synonymous_variant,p.=,ENST00000458229,;SLC16A1,downstream_gene_variant,,ENST00000443580,;SLC16A1,downstream_gene_variant,,ENST00000429288,;SLC16A1,downstream_gene_variant,,ENST00000481750,;	T	ENST00000538576	Transcript	synonymous_variant	1996/4374	1164/1503	388/500	S	tcC/tcA	COSM4871552,COSM893981	1		-1	SLC16A1	HGNC	HGNC:10922	protein_coding	YES	CCDS858.1	ENSP00000441065	P53985	A0A024R0H1	UPI00000012F5	NM_001166496.1			4/5		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF24,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00892,Transmembrane_helices:TMhelix											1,1						LOW	1	SNV	2		1,1	1										PASS		.	.												T	2	4	29	112917242	112917242	G	T	1	0	0	0	0	0	0	0	1	14668	1335	47	2		2	SLC16A1	1	112917242	Silent	SNP	G	C3L-01924_TP	3296056	112917242	136039180	32	8347	194	2									
SLC16A1	0	.	GRCh38	chr1	112917243	112917243	+	Missense_Mutation	SNP	G	G	T																															tcaccaatcccacagcgctgGagaacctctggggtccaaca																								novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1163C>A	p.Ser388Tyr	p.S388Y	ENST00000538576	4/5	278	210	68	330	328	2	strelka-varscan-mutect	SLC16A1,missense_variant,p.Ser388Tyr,ENST00000538576,NM_001166496.1;SLC16A1,missense_variant,p.Ser388Tyr,ENST00000369626,NM_003051.3;SLC16A1,missense_variant,p.Ser388Tyr,ENST00000458229,;SLC16A1,downstream_gene_variant,,ENST00000443580,;SLC16A1,downstream_gene_variant,,ENST00000429288,;SLC16A1,downstream_gene_variant,,ENST00000481750,;	T	ENST00000538576	Transcript	missense_variant	1995/4374	1163/1503	388/500	S/Y	tCc/tAc		1		-1	SLC16A1	HGNC	HGNC:10922	protein_coding	YES	CCDS858.1	ENSP00000441065	P53985	A0A024R0H1	UPI00000012F5	NM_001166496.1	deleterious(0)		4/5		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF24,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00892,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	29	112917243	112917243	G	T	1	0	0	0	0	1	0	0	0	14668	1174	41	2		2	SLC16A1	1	112917243	Missense_Mutation	SNP	G	C3L-01924_TP	1	112917243	136039179	33	8348	194	2									
RSBN1	0	.	GRCh38	chr1	113766399	113766399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagctgaattctagcataacGaatgccttcccgcctcattt	11	12	6	12	2	2	1	1	1	1	0	3	2	3	1	3	0	4	2	3	0	5	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1990C>T	p.Arg664Cys	p.R664C	ENST00000261441	7/7	98	81	17	141	141	0	strelka-varscan-mutect	RSBN1,missense_variant,p.Arg664Cys,ENST00000261441,NM_018364.4;RSBN1,missense_variant,p.Arg664Cys,ENST00000612242,;RSBN1,missense_variant,p.Arg547Cys,ENST00000616024,;RSBN1,missense_variant,p.Arg616Cys,ENST00000615321,;RSBN1,non_coding_transcript_exon_variant,,ENST00000369581,;RSBN1,3_prime_UTR_variant,,ENST00000476412,;	A	ENST00000261441	Transcript	missense_variant	2054/6621	1990/2409	664/802	R/C	Cgt/Tgt		1		-1	RSBN1	HGNC	HGNC:25642	protein_coding	YES	CCDS862.1	ENSP00000261441	Q5VWQ0		UPI00002263B4	NM_018364.4	deleterious(0)		7/7		hmmpanther:PTHR13354,hmmpanther:PTHR13354:SF8																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	29	113766399	113766399	G	A	1	0	0	0	0	1	0	0	0	13952	1058	37	1		1	RSBN1	1	113766399	Missense_Mutation	SNP	G	C3L-01924_TP	849156	113766399	135190023	34	8349											
TRIM33	0	.	GRCh38	chr1	114405733	114405733	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttggttgagagaggtggTgtcaagctactctcaggact	9	11	15	6	0	2	2	2	1	1	1	3	4	2	3	0	5	2	3	0	5	2	3	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.2445A>G	p.=	p.T815T	ENST00000358465	15/20	107	94	13	143	142	1	strelka-varscan-mutect	TRIM33,synonymous_variant,p.=,ENST00000358465,NM_015906.3;TRIM33,synonymous_variant,p.=,ENST00000369543,NM_033020.2;TRIM33,synonymous_variant,p.=,ENST00000448034,;TRIM33,non_coding_transcript_exon_variant,,ENST00000476908,;	C	ENST00000358465	Transcript	synonymous_variant	2529/8339	2445/3384	815/1127	T	acA/acG		1		-1	TRIM33	HGNC	HGNC:16290	protein_coding	YES	CCDS872.1	ENSP00000351250	Q9UPN9		UPI000013D8CD	NM_015906.3			15/20		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	29	114405733	114405733	T	C	1	0	0	0	0	0	0	0	1	16996	1683	59	5		5	TRIM33	1	114405733	Silent	SNP	T	C3L-01924_TP	639334	114405733	134550689	35	8350											
PPIAL4D	0	.	GRCh38	chr1	145241858	145241858	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagaacctgtatgctttcgGatgaggttctcatcatcaaa	11	12	8	10	1	3	2	3	1	1	1	5	3	3	3	2	2	2	3	2	2	3	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.267C>A	p.=	p.I89I	ENST00000544708	1/1	182	145	37	181	181	0	strelka-varscan-mutect	PPIAL4D,synonymous_variant,p.=,ENST00000544708,NM_001164261.1;	T	ENST00000544708	Transcript	synonymous_variant	267/495	267/495	89/164	I	atC/atA		1		-1	PPIAL4D	HGNC	HGNC:33998	protein_coding	YES	CCDS59199.1	ENSP00000439444	F5H284		UPI000016003C	NM_001164261.1			1/1		PROSITE_profiles:PS50072,hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF281,Gene3D:2.40.100.10,PIRSF_domain:PIRSF001467,Pfam_domain:PF00160,Superfamily_domains:SSF50891																	LOW	1	SNV				1										PASS		.	.												T	2	4	29	145241858	145241858	G	T	1	0	0	0	0	0	0	0	1	12428	1164	41	2		2	PPIAL4D	1	145241858	Silent	SNP	G	C3L-01924_TP	30836125	145241858	103714564	36	8351											
SF3B4	0	.	GRCh38	chr1	149925924	149925924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggggttcctgccgatggGgggccatgtcctgcagcccc	3	8	15	15	1	0	0	0	0	0	0	2	1	2	0	7	5	3	2	7	5	0	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.825C>T	p.=	p.P275P	ENST00000271628	4/6	51	27	24	46	46	0	strelka-varscan-mutect	SF3B4,synonymous_variant,p.=,ENST00000271628,NM_005850.4;MTMR11,downstream_gene_variant,,ENST00000439741,NM_001145862.1;MTMR11,downstream_gene_variant,,ENST00000369140,NM_181873.3;SF3B4,downstream_gene_variant,,ENST00000457312,;MTMR11,downstream_gene_variant,,ENST00000492824,;MTMR11,downstream_gene_variant,,ENST00000482025,;MTMR11,downstream_gene_variant,,ENST00000466496,;MTMR11,downstream_gene_variant,,ENST00000490310,;MTMR11,downstream_gene_variant,,ENST00000495054,;MTMR11,downstream_gene_variant,,ENST00000482343,;	A	ENST00000271628	Transcript	synonymous_variant	1410/2085	825/1275	275/424	P	ccC/ccT		1		-1	SF3B4	HGNC	HGNC:10771	protein_coding	YES	CCDS72900.1	ENSP00000271628	Q15427		UPI0000135472	NM_005850.4			4/6		Low_complexity_(Seg):seg,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF449																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	29	149925924	149925924	G	A	1	0	0	0	0	0	0	0	1	14431	1219	43	3		3	SF3B4	1	149925924	Silent	SNP	G	C3L-01924_TP	4684066	149925924	99030498	37	8352											
VPS72	0	.	GRCh38	chr1	151185579	151185579	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgagagctaccagcCggggtgttgacctttcgagg	6	10	14	11	2	1	2	0	2	1	1	2	4	1	2	4	3	3	2	4	3	1	4	rs752210930		C3L-01924_TP	C3L-01924_NB	C	C																c.312G>T	p.=	p.P104P	ENST00000354473	3/6	386	297	89	301	298	3	strelka-varscan-mutect	VPS72,synonymous_variant,p.=,ENST00000368892,NM_001271088.1,NM_005997.2;VPS72,synonymous_variant,p.=,ENST00000354473,NM_001271087.1;VPS72,non_coding_transcript_exon_variant,,ENST00000496809,;VPS72,non_coding_transcript_exon_variant,,ENST00000463470,;VPS72,non_coding_transcript_exon_variant,,ENST00000491094,;VPS72,non_coding_transcript_exon_variant,,ENST00000471423,;	A	ENST00000354473	Transcript	synonymous_variant	349/1347	312/1128	104/375	P	ccG/ccT	rs752210930,COSM3965797,COSM4740589	1		-1	VPS72	HGNC	HGNC:11644	protein_coding	YES	CCDS59201.1	ENSP00000346464	Q15906		UPI0000204210	NM_001271087.1			3/6		hmmpanther:PTHR13275,Pfam_domain:PF05764											0,1,1						LOW	1	SNV	3		0,1,1	1										PASS		rs752210930	.												A	2	1	29	151185579	151185579	C	A	1	0	0	0	0	0	0	0	1	17765	639	23	1		1	VPS72	1	151185579	Silent	SNP	C	C3L-01924_TP	1259655	151185579	97770843	38	8353											
FLG	0	.	GRCh38	chr1	152304568	152304569	+	Frame_Shift_Ins	INS	-	-	C																															tgccttcctcttctgcttgaINSccccgggtgtccacgaatgg																								novel		C3L-01924_TP	C3L-01924_NB	-	-																c.10317dupG	p.Ser3440ValfsTer17	p.S3440Vfs*17	ENST00000368799	3/3	549	425	124	474	473	1	sindel-varindel-pindel	FLG,frameshift_variant,p.Ser3440ValfsTer17,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	C	ENST00000368799	Transcript	frameshift_variant	10353-10354/12747	10317-10318/12186	3439-3440/4061	-/X	-/G		1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1			3/3																			HIGH	1	insertion	1			1										PASS		.	.												C	7	5	29	152304568	152304568	-	C	1	0	1	1	0	0	0	0	0	5784	275	10	0		0	FLG	1	152304568	Frame_Shift_Ins	INS	-	C3L-01924_TP	1118989	152304568	96651854	39	8354											
SNAPIN	0	.	GRCh38	chr1	153659531	153659531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttaatgcccggcgacgcGttgtcttggttaacaacatt	9	13	9	10	4	1	0	0	0	1	0	1	1	1	0	1	2	4	2	1	2	4	6	rs376802072		C3L-01924_TP	C3L-01924_NB	G	G																c.274G>C	p.Val92Leu	p.V92L	ENST00000368685	3/4	319	220	99	248	248	0	strelka-varscan-mutect	SNAPIN,missense_variant,p.Val92Leu,ENST00000368685,NM_012437.5;ILF2,downstream_gene_variant,,ENST00000615950,NM_001267809.1;ILF2,downstream_gene_variant,,ENST00000361891,NM_004515.3;SNAPIN,non_coding_transcript_exon_variant,,ENST00000478558,;SNAPIN,non_coding_transcript_exon_variant,,ENST00000462880,;SNAPIN,non_coding_transcript_exon_variant,,ENST00000474959,;ILF2,downstream_gene_variant,,ENST00000480213,;	C	ENST00000368685	Transcript	missense_variant	364/1030	274/411	92/136	V/L	Gtt/Ctt	rs376802072,COSM4444223	1		1	SNAPIN	HGNC	HGNC:17145	protein_coding	YES	CCDS1049.1	ENSP00000357674	O95295		UPI000003E7DC	NM_012437.5	deleterious(0.04)		3/4		hmmpanther:PTHR31305,PIRSF_domain:PIRSF037631,Pfam_domain:PF14712,Coiled-coils_(Ncoils):Coil											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs376802072	.												C	3	2	29	153659531	153659531	G	C	1	0	0	0	0	1	0	0	0	15160	1145	40	4		4	SNAPIN	1	153659531	Missense_Mutation	SNP	G	C3L-01924_TP	1354963	153659531	95296891	40	8355											
KIRREL	0	.	GRCh38	chr1	158091553	158091553	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatcatccagctggaagagCgaggtgactggtagtgctgc	9	8	14	10	1	1	2	1	1	0	1	2	4	2	3	2	3	4	3	2	3	2	1			C3L-01924_TP	C3L-01924_NB	C	C																c.1468C>A	p.=	p.R490R	ENST00000359209	11/15	201	143	58	172	172	0	strelka-varscan-mutect	KIRREL,synonymous_variant,p.=,ENST00000368173,NM_001286349.1;KIRREL,synonymous_variant,p.=,ENST00000368172,;KIRREL,synonymous_variant,p.=,ENST00000360089,;KIRREL,synonymous_variant,p.=,ENST00000359209,NM_018240.6;	A	ENST00000359209	Transcript	synonymous_variant	1535/2874	1468/2274	490/757	R	Cga/Aga	COSM1212529,COSM1212530,COSM1212531	1		1	KIRREL	HGNC	HGNC:15734	protein_coding	YES	CCDS1172.2	ENSP00000352138	Q96J84		UPI0000443FBD	NM_018240.6			11/15		Gene3D:2.60.40.10,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF14,SMART_domains:SM00409											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												A	2	1	29	158091553	158091553	C	A	1	0	0	0	0	0	0	0	1	8188	782	27	1		1	KIRREL	1	158091553	Silent	SNP	C	C3L-01924_TP	4432022	158091553	90864869	41	8356											
CD1C	0	.	GRCh38	chr1	158292660	158292660	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagctgttgctggtttgTcatgcctccggcttctaccc	3	13	11	14	1	2	0	1	0	1	0	3	0	3	0	4	3	4	5	4	3	1	4	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.675T>C	p.=	p.C225C	ENST00000368170	4/6	224	167	57	208	208	0	strelka-varscan-mutect	CD1C,synonymous_variant,p.=,ENST00000368170,NM_001765.2;CD1C,synonymous_variant,p.=,ENST00000443761,;	C	ENST00000368170	Transcript	synonymous_variant	954/1435	675/1002	225/333	C	tgT/tgC		1		1	CD1C	HGNC	HGNC:1636	protein_coding	YES	CCDS1175.1	ENSP00000357152	P29017		UPI000013DF78	NM_001765.2			4/6		PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF155,hmmpanther:PTHR16675,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	29	158292660	158292660	T	C	1	0	0	0	0	0	0	0	1	2679	1673	58	5		5	CD1C	1	158292660	Silent	SNP	T	C3L-01924_TP	201107	158292660	90663762	42	8357											
OR10Z1	0	.	GRCh38	chr1	158606763	158606763	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttctgcctcatgggccTgtactaactgcttccttctg	4	17	7	13	0	4	0	1	0	3	0	5	0	5	0	3	1	4	2	3	1	2	6	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.325T>A	p.Cys109Ser	p.C109S	ENST00000361284	1/1	332	270	62	348	348	0	strelka-varscan-mutect	OR10Z1,missense_variant,p.Cys109Ser,ENST00000361284,NM_001004478.1;SPTA1,downstream_gene_variant,,ENST00000368147,NM_003126.2;SPTA1,downstream_gene_variant,,ENST00000485680,;	A	ENST00000361284	Transcript	missense_variant	325/942	325/942	109/313	C/S	Tgt/Agt		1		1	OR10Z1	HGNC	HGNC:14996	protein_coding	YES	CCDS30901.1	ENSP00000354707	Q8NGY1	A0A126GV63	UPI000004CA23	NM_001004478.1	tolerated(0.16)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		rs1159672050	.												A	3	1	29	158606763	158606763	T	A	1	0	0	0	0	1	0	0	0	10999	1580	55	4		4	OR10Z1	1	158606763	Missense_Mutation	SNP	T	C3L-01924_TP	314103	158606763	90349659	43	8358											
SPTA1	0	.	GRCh38	chr1	158626858	158626858	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatccaagcctctaccacAtcagccttccagttgaattc	10	11	4	16	0	2	1	1	1	1	0	5	1	4	1	6	0	3	1	6	0	4	5	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.5814T>G	p.Asp1938Glu	p.D1938E	ENST00000368147	41/52	471	354	117	421	419	2	strelka-varscan-mutect	SPTA1,missense_variant,p.Asp1938Glu,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000461624,;	C	ENST00000368147	Transcript	missense_variant	5995/7999	5814/7260	1938/2419	D/E	gaT/gaG		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	tolerated(0.05)		41/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	158626858	158626858	A	C	1	0	0	0	0	1	0	0	0	15472	214	8	5		5	SPTA1	1	158626858	Missense_Mutation	SNP	A	C3L-01924_TP	20095	158626858	90329564	44	8359											
PEX19	0	.	GRCh38	chr1	160279576	160279576	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcagacactgttcaccaCtggcacctggtgggcccgaa	9	8	11	13	1	2	2	2	1	0	1	2	3	2	2	3	3	0	2	3	3	1	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.875G>C	p.Ser292Thr	p.S292T	ENST00000368072	8/8	475	355	120	379	379	0	strelka-varscan-mutect	PEX19,missense_variant,p.Ser292Thr,ENST00000368072,NM_002857.3,NM_001193644.1;PEX19,3_prime_UTR_variant,,ENST00000495624,;RP11-574F21.3,intron_variant,,ENST00000556710,;RP11-574F21.3,intron_variant,,ENST00000485079,;PEX19,downstream_gene_variant,,ENST00000392220,;PEX19,non_coding_transcript_exon_variant,,ENST00000532508,;PEX19,intron_variant,,ENST00000467711,;PEX19,downstream_gene_variant,,ENST00000533699,;PEX19,downstream_gene_variant,,ENST00000533104,;PEX19,3_prime_UTR_variant,,ENST00000472750,;PEX19,3_prime_UTR_variant,,ENST00000462644,;PEX19,3_prime_UTR_variant,,ENST00000532643,;PEX19,downstream_gene_variant,,ENST00000532516,;PEX19,downstream_gene_variant,,ENST00000524939,;	G	ENST00000368072	Transcript	missense_variant	897/3661	875/900	292/299	S/T	aGt/aCt		1		-1	PEX19	HGNC	HGNC:9713	protein_coding	YES	CCDS1201.1	ENSP00000357051	P40855	A0A0S2Z497	UPI0000132BAD	NM_002857.3,NM_001193644.1	tolerated(0.19)		8/8		hmmpanther:PTHR12774,Pfam_domain:PF04614																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	160279576	160279576	C	G	1	0	0	0	0	1	0	0	0	11834	565	20	4		4	PEX19	1	160279576	Missense_Mutation	SNP	C	C3L-01924_TP	1652718	160279576	88676846	45	8360											
COPA	0	.	GRCh38	chr1	160290631	160290631	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggggttgtgcatgtcataaTtgagctggtaggcatctgtg	8	13	15	5	0	2	1	1	1	1	0	2	1	2	1	0	4	2	5	0	4	2	4	rs757736121		C3L-01924_TP	C3L-01924_NB	T	T																c.3503A>G	p.Asn1168Ser	p.N1168S	ENST00000368069	32/33	251	186	65	218	218	0	strelka-varscan-mutect	COPA,missense_variant,p.Asn1159Ser,ENST00000241704,NM_004371.3;COPA,missense_variant,p.Asn1168Ser,ENST00000368069,NM_001098398.1;PEX19,upstream_gene_variant,,ENST00000533699,;COPA,downstream_gene_variant,,ENST00000545284,;	C	ENST00000368069	Transcript	missense_variant	3581/4664	3503/3702	1168/1233	N/S	aAt/aGt	rs757736121	1		-1	COPA	HGNC	HGNC:2230	protein_coding	YES	CCDS41424.1	ENSP00000357048	P53621		UPI0000074301	NM_001098398.1	tolerated(0.37)		32/33		hmmpanther:PTHR19876,PIRSF_domain:PIRSF003354,Pfam_domain:PF06957																	MODERATE	1	SNV	1			1										PASS		rs757736121	.												C	3	2	29	160290631	160290631	T	C	1	0	0	0	0	1	0	0	0	3519	1493	52	5		5	COPA	1	160290631	Missense_Mutation	SNP	T	C3L-01924_TP	11055	160290631	88665791	46	8361											
ITLN2	0	.	GRCh38	chr1	160947977	160947977	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcccagcacaaagggcgttGgctgctctctcgttattaaa	10	11	9	11	2	1	0	0	0	1	0	4	0	2	0	1	2	2	5	1	2	4	3	rs750602994		C3L-01924_TP	C3L-01924_NB	G	G																c.777C>A	p.=	p.A259A	ENST00000368029	7/8	267	216	51	252	251	1	strelka-varscan-mutect	ITLN2,synonymous_variant,p.=,ENST00000368029,NM_080878.2;RP11-544M22.1,intron_variant,,ENST00000356006,;ITLN2,non_coding_transcript_exon_variant,,ENST00000494442,;ITLN2,downstream_gene_variant,,ENST00000490489,;	T	ENST00000368029	Transcript	synonymous_variant	835/1151	777/978	259/325	A	gcC/gcA	rs750602994	1		-1	ITLN2	HGNC	HGNC:20599	protein_coding	YES	CCDS1212.1	ENSP00000357008	Q8WWU7		UPI0000048F3E	NM_080878.2			7/8		hmmpanther:PTHR16146:SF21,hmmpanther:PTHR16146																	LOW	1	SNV	1			1										PASS		rs750602994	.												T	2	4	29	160947977	160947977	G	T	1	0	0	0	0	0	0	0	1	7817	1335	47	2		2	ITLN2	1	160947977	Silent	SNP	G	C3L-01924_TP	657346	160947977	88008445	47	8362											
LMX1A	0	.	GRCh38	chr1	165249447	165249447	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcaccaggctgagcagctCccgctccttctcatagtccc	6	9	8	18	1	2	1	2	1	1	0	6	1	5	1	4	1	2	5	4	1	1	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.457G>T	p.Glu153Ter	p.E153*	ENST00000342310	4/9	247	194	53	224	224	0	strelka-varscan-mutect	LMX1A,stop_gained,p.Glu153Ter,ENST00000342310,NM_177398.3;LMX1A,stop_gained,p.Glu153Ter,ENST00000294816,NM_001174069.1;LMX1A,stop_gained,p.Glu153Ter,ENST00000367893,;	A	ENST00000342310	Transcript	stop_gained	840/3545	457/1149	153/382	E/*	Gag/Tag		1		-1	LMX1A	HGNC	HGNC:6653	protein_coding	YES	CCDS1247.1	ENSP00000340226	Q8TE12		UPI000012E793	NM_177398.3			4/9		PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF88																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	29	165249447	165249447	C	A	1	0	0	0	0	0	1	0	0	8788	864	30	2		2	LMX1A	1	165249447	Nonsense_Mutation	SNP	C	C3L-01924_TP	4301470	165249447	83706975	48	8363											
DUSP27	0	.	GRCh38	chr1	167126717	167126717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgggctctgaggccagttCcttctacaacttctgcagca	7	11	10	13	1	3	1	0	1	3	0	4	1	4	1	2	2	4	4	2	2	2	4			C3L-01924_TP	C3L-01924_NB	C	C																c.1586C>A	p.Ser529Tyr	p.S529Y	ENST00000361200	6/6	280	259	21	258	258	0	strelka-varscan-mutect	DUSP27,missense_variant,p.Ser529Tyr,ENST00000361200,;DUSP27,missense_variant,p.Ser529Tyr,ENST00000443333,NM_001080426.1;DUSP27,missense_variant,p.Ser529Tyr,ENST00000271385,;GPA33,intron_variant,,ENST00000632571,;DUSP27,intron_variant,,ENST00000485151,;	A	ENST00000361200	Transcript	missense_variant	1752/4164	1586/3477	529/1158	S/Y	tCc/tAc	COSM5530261	1		1	DUSP27	HGNC	HGNC:25034	protein_coding	YES	CCDS30932.1	ENSP00000354483	Q5VZP5		UPI000040DFF5		deleterious(0)		6/6													1						MODERATE	1	SNV	5		1	1										PASS		rs1021409386	.												A	3	1	29	167126717	167126717	C	A	1	0	0	0	0	1	0	0	0	4646	855	30	2		2	DUSP27	1	167126717	Missense_Mutation	SNP	C	C3L-01924_TP	1877270	167126717	81829705	49	8364											
RGS18	0	.	GRCh38	chr1	192160385	192160385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttcttgtacagagtctccCctgaagaggcagtgaaatgg	10	11	12	8	0	2	4	0	2	2	2	3	4	2	4	2	2	1	3	2	2	3	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.229C>A	p.Pro77Thr	p.P77T	ENST00000367460	3/5	161	124	37	164	163	1	strelka-varscan-mutect	RGS18,missense_variant,p.Pro77Thr,ENST00000367460,NM_130782.2;RGS18,non_coding_transcript_exon_variant,,ENST00000481707,;RGS18,non_coding_transcript_exon_variant,,ENST00000492967,;RGS18,non_coding_transcript_exon_variant,,ENST00000491030,;	A	ENST00000367460	Transcript	missense_variant	410/2150	229/708	77/235	P/T	Cct/Act		1		1	RGS18	HGNC	HGNC:14261	protein_coding	YES	CCDS1374.1	ENSP00000356430	Q9NS28		UPI0000044571	NM_130782.2	tolerated(0.12)		3/5		hmmpanther:PTHR10845:SF155,hmmpanther:PTHR10845,Gene3D:1.10.196.10,Superfamily_domains:SSF48097																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	192160385	192160385	C	A	1	0	0	0	0	1	0	0	0	13471	623	22	2		2	RGS18	1	192160385	Missense_Mutation	SNP	C	C3L-01924_TP	25033668	192160385	56796037	50	8365											
KCNT2	0	.	GRCh38	chr1	196489899	196489899	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgtataataagcagcttaGtaatttgagagaaaaattga	18	13	8	2	0	0	3	0	2	0	1	0	4	0	3	0	0	2	4	0	0	8	8	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.214C>T	p.=	p.L72L	ENST00000294725	3/28	159	142	17	168	168	0	strelka-varscan-mutect	KCNT2,synonymous_variant,p.=,ENST00000367433,NM_001287819.1;KCNT2,synonymous_variant,p.=,ENST00000294725,NM_198503.3;KCNT2,synonymous_variant,p.=,ENST00000609185,NM_001287820.1;KCNT2,5_prime_UTR_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;	A	ENST00000294725	Transcript	synonymous_variant	1130/4409	214/3408	72/1135	L	Cta/Tta		1		-1	KCNT2	HGNC	HGNC:18866	protein_coding	YES	CCDS1384.1	ENSP00000294725	Q6UVM3	A9LNM6	UPI00001E0966	NM_198503.3			3/28		Gene3D:1.10.287.70,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	29	196489899	196489899	G	A	1	0	0	0	0	0	0	0	1	8008	1020	36	3		3	KCNT2	1	196489899	Silent	SNP	G	C3L-01924_TP	4329514	196489899	52466523	51	8366											
CFH	0	.	GRCh38	chr1	196728393	196728393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcaaatttaattatacttGaggaacatttaaaaaacaag	20	12	4	5	0	1	1	1	1	0	0	1	2	1	2	0	1	3	0	0	1	9	7	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2284G>A	p.Glu762Lys	p.E762K	ENST00000367429	15/22	170	134	36	164	164	0	strelka-varscan-mutect	CFH,missense_variant,p.Glu762Lys,ENST00000367429,NM_000186.3;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;	A	ENST00000367429	Transcript	missense_variant	2524/4127	2284/3696	762/1231	E/K	Gag/Aag		1		1	CFH	HGNC	HGNC:4883	protein_coding	YES	CCDS1385.1	ENSP00000356399	P08603	A0A024R962	UPI000013C4D1	NM_000186.3	tolerated(0.11)		15/22		PROSITE_profiles:PS50923,SMART_domains:SM00032																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	196728393	196728393	G	A	1	0	0	0	0	1	0	0	0	3041	1291	45	3		3	CFH	1	196728393	Missense_Mutation	SNP	G	C3L-01924_TP	238494	196728393	52228029	52	8367											
ASPM	0	.	GRCh38	chr1	197105040	197105040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttaaataagcacgcCaatgcctctgaattgtaact	12	14	5	10	1	3	1	0	1	3	0	3	1	3	1	2	0	3	2	2	0	6	6	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.4211G>T	p.Trp1404Leu	p.W1404L	ENST00000367409	18/28	64	43	21	58	58	0	strelka-varscan-mutect	ASPM,missense_variant,p.Trp1404Leu,ENST00000367409,NM_018136.4;ASPM,intron_variant,,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000612785,;ASPM,intron_variant,,ENST00000367408,;	A	ENST00000367409	Transcript	missense_variant	4468/10887	4211/10434	1404/3477	W/L	tGg/tTg		1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4	tolerated(0.58)		18/28		Pfam_domain:PF00612,PROSITE_profiles:PS50096,SMART_domains:SM00015																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	197105040	197105040	C	A	1	0	0	0	0	1	0	0	0	1203	595	21	2		2	ASPM	1	197105040	Missense_Mutation	SNP	C	C3L-01924_TP	376647	197105040	51851382	53	8368											
IGFN1	0	.	GRCh38	chr1	201208726	201208726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagggtattgggagttctgGggaaatggggtcagtggata	10	10	19	2	0	2	0	1	0	1	0	2	4	2	3	0	7	0	2	0	7	4	4	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.3833G>A	p.Gly1278Glu	p.G1278E	ENST00000335211	12/24	192	181	11	186	185	1	strelka-varscan-mutect	IGFN1,missense_variant,p.Gly1278Glu,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,upstream_gene_variant,,ENST00000473483,;IGFN1,downstream_gene_variant,,ENST00000444705,;	A	ENST00000335211	Transcript	missense_variant	3963/11810	3833/11127	1278/3708	G/E	gGg/gAg		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1	tolerated(0.05)		12/24																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	201208726	201208726	G	A	1	0	0	0	0	1	0	0	0	7497	1232	43	3		3	IGFN1	1	201208726	Missense_Mutation	SNP	G	C3L-01924_TP	4103686	201208726	47747696	54	8369											
LAD1	0	.	GRCh38	chr1	201386523	201386523	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgtggccctctttggggCcggcttagcatctgcagttg	3	12	15	11	1	2	0	0	0	2	0	2	0	2	0	2	5	2	5	2	5	1	3			C3L-01924_TP	C3L-01924_NB	C	C																c.838G>T	p.Ala280Ser	p.A280S	ENST00000391967	3/10	56	40	16	84	84	0	strelka-varscan-mutect	LAD1,missense_variant,p.Ala280Ser,ENST00000391967,NM_005558.3;LAD1,missense_variant,p.Ala294Ser,ENST00000367313,;LAD1,downstream_gene_variant,,ENST00000633953,;LAD1,upstream_gene_variant,,ENST00000503578,;LAD1,downstream_gene_variant,,ENST00000632743,;LAD1,downstream_gene_variant,,ENST00000631576,;LAD1,upstream_gene_variant,,ENST00000488842,;LAD1,upstream_gene_variant,,ENST00000475136,;	A	ENST00000391967	Transcript	missense_variant	1140/2906	838/1554	280/517	A/S	Gcc/Tcc	COSM1290086	1		-1	LAD1	HGNC	HGNC:6472	protein_coding	YES	CCDS1410.1	ENSP00000375829	O00515		UPI000006CD59	NM_005558.3	tolerated(0.15)		3/10		hmmpanther:PTHR12392,PIRSF_domain:PIRSF038144											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	29	201386523	201386523	C	A	1	0	0	0	0	1	0	0	0	8503	739	26	2		2	LAD1	1	201386523	Missense_Mutation	SNP	C	C3L-01924_TP	177797	201386523	47569899	55	8370											
ELK4	0	.	GRCh38	chr1	205620168	205620168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccagtgacaaattctctGgaagttccattggctgagaa	11	11	10	9	0	1	2	0	2	1	1	4	4	3	3	2	2	0	3	2	2	3	3	rs191743893		C3L-01924_TP	C3L-01924_NB	G	G																c.878C>T	p.Pro293Leu	p.P293L	ENST00000357992	3/5	362	272	90	339	338	1	strelka-varscan-mutect	ELK4,missense_variant,p.Pro293Leu,ENST00000357992,NM_001973.3;ELK4,missense_variant,p.Pro293Leu,ENST00000289703,NM_021795.2;ELK4,downstream_gene_variant,,ENST00000468523,;ELK4,missense_variant,p.Pro293Leu,ENST00000616704,;	A	ENST00000357992	Transcript	missense_variant	1218/10239	878/1296	293/431	P/L	cCa/cTa	rs191743893	1		-1	ELK4	HGNC	HGNC:3326	protein_coding	YES	CCDS1456.1	ENSP00000350681	P28324	A0A024R9C2	UPI0000129E67	NM_001973.3	deleterious(0.02)		3/5																			MODERATE	1	SNV	1			1										PASS		rs191743893	.												A	3	1	29	205620168	205620168	G	A	1	0	0	0	0	1	0	0	0	4895	1348	47	3		3	ELK4	1	205620168	Missense_Mutation	SNP	G	C3L-01924_TP	4233645	205620168	43336254	56	8371											
DIEXF	0	.	GRCh38	chr1	209838972	209838972	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctcttcatcagcctcCtcgagggtgacagcaagaag	10	8	11	12	1	3	2	2	1	1	1	5	3	4	2	2	1	4	3	2	1	2	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1126C>A	p.Leu376Ile	p.L376I	ENST00000491415	7/12	370	350	20	326	326	0	strelka-varscan-mutect	DIEXF,missense_variant,p.Leu376Ile,ENST00000491415,NM_014388.6;DIEXF,missense_variant,p.Leu57Ile,ENST00000457820,;	A	ENST00000491415	Transcript	missense_variant	1183/8446	1126/2271	376/756	L/I	Ctc/Atc		1		1	DIEXF	HGNC	HGNC:28440	protein_coding	YES	CCDS1493.1	ENSP00000419005	Q68CQ4		UPI000006D987	NM_014388.6	deleterious(0.03)		7/12		Gene3D:3.40.50.300,Pfam_domain:PF06862,hmmpanther:PTHR12933,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	209838972	209838972	C	A	1	0	0	0	0	1	0	0	0	4327	681	24	2		2	DIEXF	1	209838972	Missense_Mutation	SNP	C	C3L-01924_TP	4218804	209838972	39117450	57	8372											
USH2A	0	.	GRCh38	chr1	215782866	215782866	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctcacagctttgctgAgtcctcgcccatagctgttc	5	13	9	14	1	1	1	1	1	1	0	5	1	2	1	2	1	3	5	2	1	1	3	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.10457T>A	p.Leu3486His	p.L3486H	ENST00000307340	53/72	223	198	25	243	243	0	strelka-varscan-mutect	USH2A,missense_variant,p.Leu3486His,ENST00000307340,NM_206933.2;	T	ENST00000307340	Transcript	missense_variant	10844/18883	10457/15609	3486/5202	L/H	cTc/cAc		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(0.18)		53/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	215782866	215782866	A	T	1	0	0	0	0	1	0	0	0	17570	304	11	4		4	USH2A	1	215782866	Missense_Mutation	SNP	A	C3L-01924_TP	5943894	215782866	33173556	58	8373											
GPATCH2	0	.	GRCh38	chr1	217449252	217449252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcttttgttttacctgCagtagtaggtccaggcaaag	8	13	10	10	0	0	0	0	0	0	0	1	0	1	0	3	2	3	6	3	2	4	6	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1363G>T	p.Ala455Ser	p.A455S	ENST00000366935	9/10	250	185	65	218	217	1	strelka-varscan-mutect	GPATCH2,missense_variant,p.Ala455Ser,ENST00000366935,NM_018040.3;	A	ENST00000366935	Transcript	missense_variant	1474/5851	1363/1587	455/528	A/S	Gca/Tca		1		-1	GPATCH2	HGNC	HGNC:25499	protein_coding	YES	CCDS1518.1	ENSP00000355902	Q9NW75		UPI000004A012	NM_018040.3	tolerated(0.47)		9/10		hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF4																	MODERATE	1	SNV	2			1										PASS		rs771425837	.												A	3	1	29	217449252	217449252	C	A	1	0	0	0	0	1	0	0	0	6491	724	25	2		2	GPATCH2	1	217449252	Missense_Mutation	SNP	C	C3L-01924_TP	1666386	217449252	31507170	59	8374											
RRP15	0	.	GRCh38	chr1	218330983	218330983	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaggcccaggttggacGatcctacgtgatgatttcat	11	10	12	8	2	1	3	1	2	0	1	2	6	2	4	2	3	1	1	2	3	3	3	rs763400227		C3L-01924_TP	C3L-01924_NB	G	G																c.741G>T	p.=	p.T247T	ENST00000366932	5/5	240	206	34	200	200	0	strelka-varscan-mutect	RRP15,synonymous_variant,p.=,ENST00000366932,NM_016052.3;	T	ENST00000366932	Transcript	synonymous_variant	771/7771	741/849	247/282	T	acG/acT	rs763400227,COSM267364	1		1	RRP15	HGNC	HGNC:24255	protein_coding	YES	CCDS1520.2	ENSP00000355899	Q9Y3B9		UPI0000205BC1	NM_016052.3			5/5		hmmpanther:PTHR13245											0,1						LOW	1	SNV	1		0,1	1										PASS		rs763400227	.												T	2	4	29	218330983	218330983	G	T	1	0	0	0	0	0	0	0	1	13942	1045	37	1		1	RRP15	1	218330983	Silent	SNP	G	C3L-01924_TP	881731	218330983	30625439	60	8375											
ZC3H11B	0	.	GRCh38	chr1	219611899	219611899	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgttttttatcaatctccAtgtgccgaaacctgcacacc	9	13	6	13	2	2	0	1	0	1	0	3	1	2	0	4	0	4	2	4	0	3	3	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.164T>A	p.Met55Lys	p.M55K	ENST00000636126	2/2	184	168	16	169	169	0	varscan-mutect	ZC3H11B,missense_variant,p.Met55Lys,ENST00000636126,;ZC3H11B,missense_variant,p.Met55Lys,ENST00000367211,;	T	ENST00000636126	Transcript	missense_variant	880/4432	164/2418	55/805	M/K	aTg/aAg		1		-1	ZC3H11B	HGNC	HGNC:25659	protein_coding	YES		ENSP00000489836			UPI000013E86C		deleterious(0)		2/2		Pfam_domain:PF15663,PROSITE_profiles:PS50103,hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2,SMART_domains:SM00356																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	29	219611899	219611899	A	T	1	0	0	0	0	1	0	0	0	18135	217	8	4		4	ZC3H11B	1	219611899	Missense_Mutation	SNP	A	C3L-01924_TP	1280916	219611899	29344523	61	8376											
SLC30A10	0	.	GRCh38	chr1	219915512	219915512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgttaagactttgtccgtgGtcactcagacagctatccaa	10	13	8	10	1	2	2	2	0	0	2	4	2	4	2	2	1	1	2	2	1	3	4	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1395C>G	p.Asp465Glu	p.D465E	ENST00000366926	4/4	212	194	18	222	222	0	strelka-varscan-mutect	SLC30A10,missense_variant,p.Asp465Glu,ENST00000366926,NM_018713.2;SLC30A10,non_coding_transcript_exon_variant,,ENST00000484079,;SLC30A10,intron_variant,,ENST00000484239,;SLC30A10,3_prime_UTR_variant,,ENST00000356609,;	C	ENST00000366926	Transcript	missense_variant	1557/1915	1395/1458	465/485	D/E	gaC/gaG		1		-1	SLC30A10	HGNC	HGNC:25355	protein_coding	YES	CCDS31026.1	ENSP00000355893	Q6XR72		UPI000040E993	NM_018713.2	tolerated(0.3)		4/4																			MODERATE	1	SNV	1			1										PASS		rs1358458562	.												C	3	2	29	219915512	219915512	G	C	1	0	0	0	0	1	0	0	0	14824	1252	44	4		4	SLC30A10	1	219915512	Missense_Mutation	SNP	G	C3L-01924_TP	303613	219915512	29040910	62	8377											
MARK1	0	.	GRCh38	chr1	220635879	220635879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatataccaaaagacctcaGgctaacagtgtggaaagtga	16	8	9	8	0	2	2	2	1	0	1	2	3	2	3	2	2	2	1	2	2	6	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1323G>T	p.Gln441His	p.Q441H	ENST00000611084	13/18	187	135	52	138	138	0	strelka-varscan-mutect	MARK1,missense_variant,p.Gln441His,ENST00000611084,NM_001286124.1;MARK1,missense_variant,p.Gln441His,ENST00000402574,NM_001286126.1;MARK1,missense_variant,p.Gln419His,ENST00000366918,NM_001286128.1;MARK1,missense_variant,p.Gln441His,ENST00000366917,NM_018650.4;	T	ENST00000611084	Transcript	missense_variant	1963/5321	1323/2391	441/796	Q/H	caG/caT		1		1	MARK1	HGNC	HGNC:6896	protein_coding	YES	CCDS73033.1	ENSP00000483424		A0A087X0I6	UPI0000E592B1	NM_001286124.1	tolerated(0.14)		13/18		hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF21																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	220635879	220635879	G	T	1	0	0	0	0	1	0	0	0	9237	991	35	2		2	MARK1	1	220635879	Missense_Mutation	SNP	G	C3L-01924_TP	720367	220635879	28320543	63	8378											
TLR5	0	.	GRCh38	chr1	223111849	223111849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgaatggttgtaagagCattgtctcggagatccaagg	14	10	12	5	1	1	3	0	1	1	2	3	4	2	3	1	3	1	3	1	3	5	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1183G>A	p.Ala395Thr	p.A395T	ENST00000540964	4/4	206	190	16	272	272	0	strelka-varscan-mutect	TLR5,missense_variant,p.Ala395Thr,ENST00000540964,;TLR5,missense_variant,p.Ala395Thr,ENST00000366881,NM_003268.5;TLR5,downstream_gene_variant,,ENST00000407096,;	T	ENST00000540964	Transcript	missense_variant	1645/4088	1183/2577	395/858	A/T	Gct/Act		1		-1	TLR5	HGNC	HGNC:11851	protein_coding	YES	CCDS31033.1	ENSP00000440643	O60602		UPI000013E1D3		deleterious(0)		4/4		PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF311,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00365,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	223111849	223111849	C	T	1	0	0	0	0	1	0	0	0	16400	710	25	3		3	TLR5	1	223111849	Missense_Mutation	SNP	C	C3L-01924_TP	2475970	223111849	25844573	64	8379											
LIN9	0	.	GRCh38	chr1	226233143	226233143	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatatcatttaatgagtcTgtaagtgatttgaattcaaa	14	17	7	3	0	3	4	2	4	1	0	3	4	3	4	0	0	0	1	0	0	5	7	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1524A>C	p.=	p.T508T	ENST00000328205	14/15	184	162	22	161	161	0	strelka-varscan-mutect	LIN9,synonymous_variant,p.=,ENST00000328205,NM_173083.3;LIN9,synonymous_variant,p.=,ENST00000366808,NM_001270410.1;LIN9,synonymous_variant,p.=,ENST00000460719,NM_001270409.1;LIN9,synonymous_variant,p.=,ENST00000481685,;	G	ENST00000328205	Transcript	synonymous_variant	2070/3567	1524/1677	508/558	T	acA/acC		1		-1	LIN9	HGNC	HGNC:30830	protein_coding	YES	CCDS1553.1	ENSP00000329102	Q5TKA1		UPI00001B2F3C	NM_173083.3			14/15		hmmpanther:PTHR21689																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	29	226233143	226233143	T	G	1	0	0	0	0	0	0	0	1	8721	1567	55	5		5	LIN9	1	226233143	Silent	SNP	T	C3L-01924_TP	3121294	226233143	22723279	65	8380											
RYR2	0	.	GRCh38	chr1	237511695	237511695	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgtttcaggttagagAtgacaacaagagacaacacc	14	9	9	9	0	1	3	1	1	0	2	2	5	2	3	2	1	2	2	2	1	4	2	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.2726A>G	p.Asp909Gly	p.D909G	ENST00000366574	24/105	151	140	11	129	129	0	strelka-varscan-mutect	RYR2,missense_variant,p.Asp909Gly,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Asp893Gly,ENST00000360064,;	G	ENST00000366574	Transcript	missense_variant	3043/16562	2726/14904	909/4967	D/G	gAt/gGt		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		24/105		Pfam_domain:PF02026,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	237511695	237511695	A	G	1	0	0	0	0	1	0	0	0	14029	333	12	5		5	RYR2	1	237511695	Missense_Mutation	SNP	A	C3L-01924_TP	11278552	237511695	11444727	66	8381											
WDR64	0	.	GRCh38	chr1	241796308	241796308	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgattggcgtagaagccCaaaaggactcttcagatggc	12	8	11	10	1	2	3	1	1	1	2	2	4	2	4	1	3	1	1	1	3	4	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.3100C>T	p.Gln1034Ter	p.Q1034*	ENST00000366552	26/27	194	175	19	196	196	0	strelka-varscan-mutect	WDR64,stop_gained,p.Gln1034Ter,ENST00000366552,NM_144625.4;WDR64,stop_gained,p.Gln587Ter,ENST00000437684,;WDR64,stop_gained,p.Gln638Ter,ENST00000414635,;WDR64,stop_gained,p.Gln513Ter,ENST00000425826,;WDR64,downstream_gene_variant,,ENST00000472717,;	T	ENST00000366552	Transcript	stop_gained	3307/4371	3100/3246	1034/1081	Q/*	Caa/Taa		1		1	WDR64	HGNC	HGNC:26570	protein_coding	YES		ENSP00000355510	B1ANS9		UPI0000519142	NM_144625.4			26/27																			HIGH	1	SNV	5			1										PASS		.	.												T	4	4	29	241796308	241796308	C	T	1	0	0	0	0	0	1	0	0	17874	595	21	3		3	WDR64	1	241796308	Nonsense_Mutation	SNP	C	C3L-01924_TP	4284613	241796308	7160114	67	8382											
EXO1	0	.	GRCh38	chr1	241853399	241853399	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagggaaagcaacttcttcGtgaggggaaagtctcggaag	13	8	14	6	2	2	1	0	1	2	0	4	4	2	4	0	4	2	1	0	4	5	3	rs147687027		C3L-01924_TP	C3L-01924_NB	G	G																c.323G>C	p.Arg108Pro	p.R108P	ENST00000366548	6/16	360	285	75	341	341	0	strelka-varscan-mutect	EXO1,missense_variant,p.Arg108Pro,ENST00000366548,NM_130398.3;EXO1,missense_variant,p.Arg108Pro,ENST00000348581,NM_001319224.1,NM_006027.4;EXO1,missense_variant,p.Arg108Pro,ENST00000518483,NM_003686.4;EXO1,missense_variant,p.Arg68Pro,ENST00000423131,;EXO1,missense_variant,p.Arg68Pro,ENST00000523590,;EXO1,missense_variant,p.Arg108Pro,ENST00000450748,;EXO1,missense_variant,p.Arg68Pro,ENST00000437497,;EXO1,downstream_gene_variant,,ENST00000519225,;EXO1,non_coding_transcript_exon_variant,,ENST00000493702,;EXO1,intron_variant,,ENST00000469419,;	C	ENST00000366548	Transcript	missense_variant	916/3473	323/2541	108/846	R/P	cGt/cCt	rs147687027	1		1	EXO1	HGNC	HGNC:3511	protein_coding	YES	CCDS1620.1	ENSP00000355506	Q9UQ84		UPI000013DDA8	NM_130398.3	deleterious(0)		6/16		hmmpanther:PTHR11081:SF8,hmmpanther:PTHR11081,Gene3D:3.40.50.1010,Superfamily_domains:SSF88723																	MODERATE	1	SNV	1			1										PASS		rs147687027	.												C	3	2	29	241853399	241853399	G	C	1	0	0	0	0	1	0	0	0	5167	1145	40	4		4	EXO1	1	241853399	Missense_Mutation	SNP	G	C3L-01924_TP	57091	241853399	7103023	68	8383											
OR2AK2	0	.	GRCh38	chr1	247965794	247965794	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcttatgagcaagaagAtctgctgcctcatggttgca	10	12	10	9	0	2	3	1	1	1	2	2	3	2	3	1	1	5	5	1	1	4	3	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.463A>T	p.Ile155Phe	p.I155F	ENST00000366480	1/1	60	47	13	88	88	0	strelka-varscan-mutect	OR2AK2,missense_variant,p.Ile155Phe,ENST00000366480,NM_001004491.1;	T	ENST00000366480	Transcript	missense_variant	562/1107	463/1008	155/335	I/F	Atc/Ttc		1		1	OR2AK2	HGNC	HGNC:19569	protein_coding	YES	CCDS31102.1	ENSP00000355436	Q8NG84		UPI00003B2873	NM_001004491.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF299,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	29	247965794	247965794	A	T	1	0	0	0	0	1	0	0	0	11064	333	12	4		4	OR2AK2	1	247965794	Missense_Mutation	SNP	A	C3L-01924_TP	6112395	247965794	990628	69	8384											
OR2L2	0	.	GRCh38	chr1	248038418	248038418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgattcttctcatctttttgGacatccatctccacacacct	8	16	3	14	0	4	1	1	1	4	0	7	2	5	2	3	1	0	0	3	1	0	4			C3L-01924_TP	C3L-01924_NB	G	G																c.151G>T	p.Asp51Tyr	p.D51Y	ENST00000366479	1/1	321	274	47	327	326	1	strelka-varscan-mutect	OR2L2,missense_variant,p.Asp51Tyr,ENST00000366479,NM_001004686.2;	T	ENST00000366479	Transcript	missense_variant	151/939	151/939	51/312	D/Y	Gac/Tac	COSM534322	1		1	OR2L2	HGNC	HGNC:8266	protein_coding	YES	CCDS31103.1	ENSP00000355435	Q8NH16	A0A126GW34	UPI0000061EAA	NM_001004686.2	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF189,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	29	248038418	248038418	G	T	1	0	0	0	0	1	0	0	0	11085	1174	41	2		2	OR2L2	1	248038418	Missense_Mutation	SNP	G	C3L-01924_TP	72624	248038418	918004	70	8385											
OR2M5	0	.	GRCh38	chr1	248145879	248145879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttactacctgttcctctcaCctcatggtggtgggaatgta	7	15	9	10	0	2	0	2	0	1	0	4	1	3	1	3	3	2	2	3	3	4	5	rs760262593		C3L-01924_TP	C3L-01924_NB	C	C																c.732C>A	p.His244Gln	p.H244Q	ENST00000366476	1/1	318	293	25	366	366	0	varscan-mutect	OR2M5,missense_variant,p.His244Gln,ENST00000366476,NM_001004690.1;	A	ENST00000366476	Transcript	missense_variant	732/939	732/939	244/312	H/Q	caC/caA	rs760262593,COSM1502265	1		1	OR2M5	HGNC	HGNC:19576	protein_coding	YES	CCDS31105.1	ENSP00000355432	A3KFT3		UPI00001612E2	NM_001004690.1	deleterious(0.02)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF28,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV			0,1	1										PASS		rs1320736496	.												A	3	1	29	248145879	248145879	C	A	1	0	0	0	0	1	0	0	0	11091	506	18	2		2	OR2M5	1	248145879	Missense_Mutation	SNP	C	C3L-01924_TP	107461	248145879	810543	71	8386											
OR2T33	0	.	GRCh38	chr1	248273274	248273274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagccaaacgcaccagcaCgggggtctcgcagaagaagt	14	3	12	12	3	1	2	0	0	1	2	2	2	1	2	2	2	3	3	2	2	4	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.541G>T	p.Val181Leu	p.V181L	ENST00000318021	1/1	257	243	14	299	299	0	varscan-mutect	OR2T33,missense_variant,p.Val181Leu,ENST00000318021,NM_001004695.1;	A	ENST00000318021	Transcript	missense_variant	541/963	541/963	181/320	V/L	Gtg/Ttg		1		-1	OR2T33	HGNC	HGNC:31255	protein_coding	YES	CCDS31109.1	ENSP00000324687	Q8NG76		UPI000004B237	NM_001004695.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs919264329	.												A	3	1	29	248273274	248273274	C	A	1	0	0	0	0	1	0	0	0	11101	536	19	1		1	OR2T33	1	248273274	Missense_Mutation	SNP	C	C3L-01924_TP	127395	248273274	683148	72	8387											
ALLC	0	.	GRCh38	chr2	3702429	3702429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagatgtcatcactcacGccaggctcaccatcgtcccc	9	8	6	18	2	4	1	4	0	0	1	7	1	6	1	5	1	0	1	5	1	1	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1042G>T	p.Ala348Ser	p.A348S	ENST00000252505	12/12	183	131	52	192	191	1	strelka-varscan-mutect	ALLC,missense_variant,p.Ala348Ser,ENST00000252505,NM_018436.3;DCDC2C,upstream_gene_variant,,ENST00000399143,NM_001287444.1;DCDC2C,upstream_gene_variant,,ENST00000423741,;AC010907.5,downstream_gene_variant,,ENST00000441632,;ALLC,non_coding_transcript_exon_variant,,ENST00000471711,;ALLC,non_coding_transcript_exon_variant,,ENST00000476389,;	T	ENST00000252505	Transcript	missense_variant	1204/1446	1042/1176	348/391	A/S	Gcc/Tcc		1		1	ALLC	HGNC	HGNC:17377	protein_coding	YES	CCDS46223.1	ENSP00000252505		B4DY77	UPI000050BBEF	NM_018436.3	deleterious(0)		12/12		hmmpanther:PTHR12045,TIGRFAM_domain:TIGR02961,PIRSF_domain:PIRSF016516,Pfam_domain:PF03561,Gene3D:2.60.120.260,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	3702429	3702429	G	T	1	0	0	0	0	1	0	0	0	634	1087	38	1		1	ALLC	2	3702429	Missense_Mutation	SNP	G	C3L-01924_TP		3702429	238491100	73	8388											
NOL10	0	.	GRCh38	chr2	10682063	10682063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaataagttcaattctcctaCggacatctaaaaagagagaa	18	9	7	7	1	3	2	1	0	2	2	4	5	3	3	1	1	1	1	1	1	8	5	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.119G>T	p.Arg40Leu	p.R40L	ENST00000381685	3/21	63	56	7	69	68	1	strelka-varscan-mutect	NOL10,missense_variant,p.Arg40Leu,ENST00000538384,NM_001261392.1;NOL10,missense_variant,p.Arg40Leu,ENST00000345985,NM_001261394.1;NOL10,missense_variant,p.Arg40Leu,ENST00000381685,NM_024894.3;NOL10,non_coding_transcript_exon_variant,,ENST00000473087,;	A	ENST00000381685	Transcript	missense_variant	225/2589	119/2067	40/688	R/L	cGt/cTt		1		-1	NOL10	HGNC	HGNC:25862	protein_coding	YES	CCDS1673.2	ENSP00000371101	Q9BSC4		UPI000006F6E2	NM_024894.3	deleterious(0.01)		3/21		hmmpanther:PTHR14927,hmmpanther:PTHR14927:SF0																	MODERATE	1	SNV	1			1										PASS		rs1356857139	.												A	3	1	29	10682063	10682063	C	A	1	0	0	0	0	1	0	0	0	10563	536	19	1		1	NOL10	2	10682063	Missense_Mutation	SNP	C	C3L-01924_TP	6979634	10682063	231511466	74	8389											
MYCN	0	.	GRCh38	chr2	15945648	15945648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgggagggctcagtccAgcgagctgatcctcaaacga	9	6	13	13	3	2	1	2	1	0	0	5	4	5	2	3	2	3	2	3	2	1	0	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.946A>G	p.Ser316Gly	p.S316G	ENST00000281043	3/3	223	168	55	220	220	0	strelka-varscan-mutect	MYCN,missense_variant,p.Ser316Gly,ENST00000281043,NM_001293233.1,NM_001293228.1,NM_005378.5;MYCNOS,upstream_gene_variant,,ENST00000420452,;MYCNOS,upstream_gene_variant,,ENST00000419083,;MYCNOS,upstream_gene_variant,,ENST00000453400,;MYCNOS,upstream_gene_variant,,ENST00000439180,;MYCNOS,upstream_gene_variant,,ENST00000448719,;	G	ENST00000281043	Transcript	missense_variant	1243/2602	946/1395	316/464	S/G	Agc/Ggc		1		1	MYCN	HGNC	HGNC:7559	protein_coding	YES	CCDS1687.1	ENSP00000281043	P04198		UPI000012FAF8	NM_001293233.1,NM_001293228.1,NM_005378.5	tolerated(0.48)		3/3		Pfam_domain:PF01056,PIRSF_domain:PIRSF001705,hmmpanther:PTHR11514,hmmpanther:PTHR11514:SF3																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	29	15945648	15945648	A	G	1	0	0	0	0	1	0	0	0	10021	188	7	5		5	MYCN	2	15945648	Missense_Mutation	SNP	A	C3L-01924_TP	5263585	15945648	226247881	75	8390											
GAREM2	0	.	GRCh38	chr2	26182494	26182494	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcacaggatgccagatccagGtagggcccatgatcatctgt	10	8	12	11	0	2	2	1	1	1	1	3	3	3	3	3	3	1	2	3	3	1	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.22+1G>T		p.X8_splice	ENST00000407684		137	99	38	134	133	1	strelka-varscan-mutect	GAREM2,splice_donor_variant,,ENST00000407684,NM_001191033.1;GAREM2,intron_variant,,ENST00000401533,NM_001168241.1;GAREM2,upstream_gene_variant,,ENST00000496070,;	T	ENST00000407684	Transcript	splice_donor_variant	-/5138	22/1995	8/664				1		1	GAREM2	HGNC	HGNC:27172	protein_coding		CCDS54337.1	ENSP00000384581	Q75VX8		UPI00001C1DD0	NM_001191033.1				1/5																		HIGH		SNV	2			1										PASS		.	.												T	5	4	29	26182494	26182494	G	T	1	0	0	0	0	0	0	1	0	6110	1275	44	2		2	GAREM2	2	26182494	Splice_Site	SNP	G	C3L-01924_TP	10236846	26182494	216011035	76	8391											
MAP4K3	0	.	GRCh38	chr2	39343442	39343442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaactccatgcaaatccaaaGcttatctcgcctataaagag	16	9	5	11	1	1	1	0	0	1	1	4	1	3	1	3	0	3	2	3	0	7	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.256C>T	p.Leu86Phe	p.L86F	ENST00000263881	4/34	194	171	23	206	206	0	strelka-varscan-mutect	MAP4K3,missense_variant,p.Leu86Phe,ENST00000263881,NM_003618.3;MAP4K3,missense_variant,p.Leu86Phe,ENST00000341681,NM_001270425.1;MAP4K3,missense_variant,p.Leu23Phe,ENST00000437545,;MAP4K3,missense_variant,p.Leu86Phe,ENST00000429397,;MAP4K3,3_prime_UTR_variant,,ENST00000437968,;	A	ENST00000263881	Transcript	missense_variant	581/4362	256/2685	86/894	L/F	Ctt/Ttt		1		-1	MAP4K3	HGNC	HGNC:6865	protein_coding	YES	CCDS1803.1	ENSP00000263881	Q8IVH8		UPI00000747E6	NM_003618.3	deleterious(0)		4/34		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF205,PIRSF_domain:PIRSF038172,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	39343442	39343442	G	A	1	0	0	0	0	1	0	0	0	9185	971	34	3		3	MAP4K3	2	39343442	Missense_Mutation	SNP	G	C3L-01924_TP	13160948	39343442	202850087	77	8392											
SLC8A1	0	.	GRCh38	chr2	40429154	40429154	+	Frame_Shift_Del	DEL	C	C	-																															catgcctctttaaaatgttgCcagctccagtcatgaggcga																								novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1127delG	p.Gly376AlafsTer4	p.G376Afs*4	ENST00000403092	2/11	80	60	20	124	124	0	sindel-varindel-pindel	SLC8A1,frameshift_variant,p.Gly376AlafsTer4,ENST00000406785,;SLC8A1,frameshift_variant,p.Gly376AlafsTer4,ENST00000403092,;SLC8A1,frameshift_variant,p.Gly376AlafsTer4,ENST00000405901,NM_001112800.1;SLC8A1,frameshift_variant,p.Gly376AlafsTer4,ENST00000402441,NM_001112802.1;SLC8A1,frameshift_variant,p.Gly376AlafsTer4,ENST00000405269,;SLC8A1,frameshift_variant,p.Gly376AlafsTer4,ENST00000332839,NM_021097.2;SLC8A1,frameshift_variant,p.Gly376AlafsTer4,ENST00000408028,NM_001112801.1,NM_001252624.1;SLC8A1,frameshift_variant,p.Gly376AlafsTer4,ENST00000406391,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,frameshift_variant,p.Gly373AlafsTer4,ENST00000407929,;	-	ENST00000403092	Transcript	frameshift_variant	1161/3178	1127/2922	376/973	G/X	gGc/gc		1		-1	SLC8A1	HGNC	HGNC:11068	protein_coding	YES	CCDS1806.1	ENSP00000384763	P32418		UPI000012FC46				2/11		Pfam_domain:PF16494,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,TIGRFAM_domain:TIGR00845																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	29	40429154	40429154	C	-	1	0	1	0	1	0	0	0	0	14989	739	26	0		0	SLC8A1	2	40429154	Frame_Shift_Del	DEL	C	C3L-01924_TP	1085712	40429154	201764375	78	8393											
SIX3	0	.	GRCh38	chr2	44942208	44942208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctggcgagtagcggcggcgGgaacggtgcgggaggcggcg	5	4	23	9	8	1	0	0	0	1	0	1	3	1	2	0	8	3	1	0	8	2	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.104G>A	p.Gly35Glu	p.G35E	ENST00000260653	1/2	111	89	22	97	97	0	strelka-varscan-mutect	SIX3,missense_variant,p.Gly35Glu,ENST00000260653,NM_005413.3;RP11-89K21.1,upstream_gene_variant,,ENST00000437916,;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;RP11-89K21.1,upstream_gene_variant,,ENST00000444871,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;Six3os1_5,downstream_gene_variant,,ENST00000611000,;Six3os1_7,downstream_gene_variant,,ENST00000621512,;Six3os1_6,downstream_gene_variant,,ENST00000620790,;	A	ENST00000260653	Transcript	missense_variant	311/2523	104/999	35/332	G/E	gGg/gAg		1		1	SIX3	HGNC	HGNC:10889	protein_coding	YES	CCDS1821.1	ENSP00000260653	O95343		UPI00001359C4	NM_005413.3	tolerated_low_confidence(0.53)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR10390:SF31,hmmpanther:PTHR10390																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	44942208	44942208	G	A	1	0	0	0	0	1	0	0	0	14611	1232	43	3		3	SIX3	2	44942208	Missense_Mutation	SNP	G	C3L-01924_TP	4513054	44942208	197251321	79	8394											
BCL11A	0	.	GRCh38	chr2	60462014	60462014	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattggattcaaccgcagcaCcctgtcaaaggcactcgggt	10	8	10	13	2	2	0	2	0	0	0	3	1	2	1	2	3	2	3	2	3	2	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.898G>T	p.Val300Leu	p.V300L	ENST00000335712	4/4	81	62	19	111	111	0	strelka-varscan-mutect	BCL11A,missense_variant,p.Val300Leu,ENST00000335712,NM_022893.3;BCL11A,missense_variant,p.Val300Leu,ENST00000356842,NM_018014.3;BCL11A,missense_variant,p.Val266Leu,ENST00000358510,;BCL11A,intron_variant,,ENST00000359629,NM_138559.1;BCL11A,intron_variant,,ENST00000489516,;BCL11A,upstream_gene_variant,,ENST00000479026,;BCL11A,non_coding_transcript_exon_variant,,ENST00000477659,;BCL11A,intron_variant,,ENST00000492272,;BCL11A,intron_variant,,ENST00000631857,;	A	ENST00000335712	Transcript	missense_variant	1126/5942	898/2508	300/835	V/L	Gtg/Ttg		1		-1	BCL11A	HGNC	HGNC:13221	protein_coding	YES	CCDS1862.1	ENSP00000338774	Q9H165	D6W5D9	UPI000013DC00	NM_022893.3	tolerated(0.07)		4/4		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	60462014	60462014	C	A	1	0	0	0	0	1	0	0	0	1510	507	18	2		2	BCL11A	2	60462014	Missense_Mutation	SNP	C	C3L-01924_TP	15519806	60462014	181731515	80	8395											
LRRTM4	0	.	GRCh38	chr2	77518918	77518918	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaaataaaggacaaatgctCcgactgcattcccacatatt	16	10	5	10	1	0	0	0	0	0	0	2	2	2	1	2	1	2	2	2	1	6	5	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.951G>T	p.=	p.R317R	ENST00000409093	3/4	144	136	8	196	195	1	strelka-varscan-mutect	LRRTM4,synonymous_variant,p.=,ENST00000409088,NM_024993.4;LRRTM4,synonymous_variant,p.=,ENST00000409911,;LRRTM4,synonymous_variant,p.=,ENST00000409282,NM_001282928.1;LRRTM4,synonymous_variant,p.=,ENST00000409093,NM_001282924.1;LRRTM4,synonymous_variant,p.=,ENST00000409884,NM_001134745.1;LRRTM4,downstream_gene_variant,,ENST00000456154,;	A	ENST00000409093	Transcript	synonymous_variant	1288/2247	951/1773	317/590	R	cgG/cgT		1		-1	LRRTM4	HGNC	HGNC:19411	protein_coding	YES	CCDS46346.1	ENSP00000386357	Q86VH4		UPI0000047808	NM_001282924.1			3/4		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF1,Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	29	77518918	77518918	C	A	1	0	0	0	0	0	0	0	1	8948	842	30	2		2	LRRTM4	2	77518918	Silent	SNP	C	C3L-01924_TP	17056904	77518918	164674611	81	8396											
REG3A	0	.	GRCh38	chr2	79158759	79158759	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagagggcagttccctctgGggttcttcacctgaggtgga	6	10	15	10	0	3	2	1	1	2	1	4	3	4	3	2	5	0	4	2	5	0	3			C3L-01924_TP	C3L-01924_NB	G	G																c.87C>A	p.=	p.P29P	ENST00000393878	2/5	118	81	37	154	154	0	strelka-varscan-mutect	REG3A,synonymous_variant,p.=,ENST00000393878,NM_138938.2;REG3A,synonymous_variant,p.=,ENST00000409839,NM_002580.2,NM_138937.2;REG3A,synonymous_variant,p.=,ENST00000305165,;AC011754.1,intron_variant,,ENST00000415201,;REG3A,non_coding_transcript_exon_variant,,ENST00000490901,;REG3A,downstream_gene_variant,,ENST00000464746,;	T	ENST00000393878	Transcript	synonymous_variant	435/1095	87/528	29/175	P	ccC/ccA	COSM1752681	1		-1	REG3A	HGNC	HGNC:8601	protein_coding	YES	CCDS1965.1	ENSP00000377456	Q06141	Q53S56	UPI0000001C5B	NM_138938.2			2/5		hmmpanther:PTHR22801:SF45,hmmpanther:PTHR22801											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	29	79158759	79158759	G	T	1	0	0	0	0	0	0	0	1	13382	1219	43	2		2	REG3A	2	79158759	Silent	SNP	G	C3L-01924_TP	1639841	79158759	163034770	82	8397											
RGPD1	0	.	GRCh38	chr2	86986896	86986896	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttgaacctgttgttcctTtacctgatctagttgaagta	9	17	7	8	0	1	3	0	3	1	0	2	3	2	3	3	0	2	4	3	0	5	8	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.3973T>A	p.Leu1325Ile	p.L1325I	ENST00000559485	20/23	141	106	35	146	146	0	strelka-varscan-mutect	RGPD1,missense_variant,p.Leu1325Ile,ENST00000559485,NM_001024457.3;RGPD1,missense_variant,p.Leu1325Ile,ENST00000409776,;RGPD1,missense_variant,p.Leu1333Ile,ENST00000398193,;RGPD1,3_prime_UTR_variant,,ENST00000428128,;	A	ENST00000559485	Transcript	missense_variant	3989/6697	3973/5247	1325/1748	L/I	Tta/Ata		1		1	RGPD1	HGNC	HGNC:32414	protein_coding	YES	CCDS46358.2	ENSP00000453170	P0DJD0		UPI00018815D1	NM_001024457.3	deleterious(0)		20/23		Low_complexity_(Seg):seg,PROSITE_profiles:PS50196,hmmpanther:PTHR23138:SF86,hmmpanther:PTHR23138,SMART_domains:SM00160,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	86986896	86986896	T	A	1	0	0	0	0	1	0	0	0	13457	1838	64	4		4	RGPD1	2	86986896	Missense_Mutation	SNP	T	C3L-01924_TP	7828137	86986896	155206633	83	8398											
ASTL	0	.	GRCh38	chr2	96123890	96123890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatgatttctaggtacaCagccccctggcagagctggg	10	9	12	10	0	1	3	0	2	1	1	1	3	1	3	2	3	3	3	2	3	3	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1256G>A	p.Cys419Tyr	p.C419Y	ENST00000342380	9/9	138	111	27	163	163	0	strelka-varscan-mutect	ASTL,missense_variant,p.Cys419Tyr,ENST00000342380,NM_001002036.3;	T	ENST00000342380	Transcript	missense_variant	1256/1296	1256/1296	419/431	C/Y	tGt/tAt		1		-1	ASTL	HGNC	HGNC:31704	protein_coding	YES	CCDS33249.1	ENSP00000343674	Q6HA08		UPI0000161978	NM_001002036.3	tolerated_low_confidence(1)		9/9																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	96123890	96123890	C	T	1	0	0	0	0	1	0	0	0	1210	478	17	3		3	ASTL	2	96123890	Missense_Mutation	SNP	C	C3L-01924_TP	9136994	96123890	146069639	84	8399											
IL1R1	0	.	GRCh38	chr2	102168662	102168662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacaatggaagtagacttGggtaagtgggcttcagtgag	12	9	16	4	0	1	3	1	1	0	2	1	5	1	4	0	3	0	3	0	3	4	4	rs758499965		C3L-01924_TP	C3L-01924_NB	G	G																c.720G>T	p.Leu240Phe	p.L240F	ENST00000410023	7/12	139	124	15	132	132	0	varscan-mutect	IL1R1,missense_variant,p.Leu240Phe,ENST00000410023,NM_001320978.1,NM_001320980.1,NM_001320981.1,NM_001320982.1,NM_001320983.1,NM_000877.3;IL1R1,missense_variant,p.Leu240Phe,ENST00000424272,;IL1R1,missense_variant,p.Leu240Phe,ENST00000409329,;IL1R1,missense_variant,p.Leu240Phe,ENST00000409929,NM_001288706.1;IL1R1,missense_variant,p.Leu240Phe,ENST00000409288,;IL1R1,missense_variant,p.Leu96Phe,ENST00000428279,;IL1R1,intron_variant,,ENST00000409589,;IL1R1,downstream_gene_variant,,ENST00000430171,;IL1R1,downstream_gene_variant,,ENST00000452403,;IL1R1,downstream_gene_variant,,ENST00000442590,;IL1R1,downstream_gene_variant,,ENST00000450319,;AC007271.3,downstream_gene_variant,,ENST00000428188,;IL1R1,splice_region_variant,,ENST00000413623,;IL1R1,splice_region_variant,,ENST00000422532,;	T	ENST00000410023	Transcript	missense_variant,splice_region_variant	1038/5143	720/1710	240/569	L/F	ttG/ttT	rs758499965	1		1	IL1R1	HGNC	HGNC:5993	protein_coding	YES	CCDS2055.1	ENSP00000386380	P14778		UPI0000034759	NM_001320978.1,NM_001320980.1,NM_001320981.1,NM_001320982.1,NM_001320983.1,NM_000877.3	deleterious(0.04)		7/12		Gene3D:2.60.40.10,Prints_domain:PR01536,PROSITE_profiles:PS50835,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF26,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs758499965	.												T	3	4	29	102168662	102168662	G	T	1	0	0	0	0	1	0	0	0	7561	1362	47	2		2	IL1R1	2	102168662	Missense_Mutation	SNP	G	C3L-01924_TP	6044772	102168662	140024867	85	8400											
ST6GAL2	0	.	GRCh38	chr2	106843327	106843327	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgcaggcgcgggttCagcattttggaagagacgtt	7	11	14	9	3	2	1	1	0	1	1	2	3	2	2	1	3	2	4	1	3	1	5	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.651G>T	p.=	p.L217L	ENST00000409382	2/6	207	164	43	214	214	0	strelka-varscan-mutect	ST6GAL2,synonymous_variant,p.=,ENST00000409382,NM_001142351.1;ST6GAL2,synonymous_variant,p.=,ENST00000361686,NM_001322362.1,NM_032528.2;ST6GAL2,synonymous_variant,p.=,ENST00000409087,NM_001142352.1;ST6GAL2,downstream_gene_variant,,ENST00000419159,;AC016994.2,downstream_gene_variant,,ENST00000425419,;	A	ENST00000409382	Transcript	synonymous_variant	1262/7275	651/1590	217/529	L	ctG/ctT		1		-1	ST6GAL2	HGNC	HGNC:10861	protein_coding	YES	CCDS2073.1	ENSP00000386942	Q96JF0		UPI000007477B	NM_001142351.1			2/6		hmmpanther:PTHR13713:SF61,hmmpanther:PTHR13713																	LOW	1	SNV	1			1										PASS		rs998584220	.												A	2	1	29	106843327	106843327	C	A	1	0	0	0	0	0	0	0	1	15600	813	29	2		2	ST6GAL2	2	106843327	Silent	SNP	C	C3L-01924_TP	4674665	106843327	135350202	86	8401											
ANAPC1	0	.	GRCh38	chr2	111821443	111821443	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttcctgaaggaacatctGatgagagcacctgagtaaca	13	9	10	9	0	1	4	0	4	1	1	2	6	2	5	2	1	3	3	2	1	3	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.3002C>G	p.Ser1001Ter	p.S1001*	ENST00000341068	26/48	164	152	12	206	206	0	varscan-mutect	ANAPC1,stop_gained,p.Ser1001Ter,ENST00000341068,NM_022662.3;ANAPC1,stop_gained,p.Ser536Ter,ENST00000427997,;ANAPC1,non_coding_transcript_exon_variant,,ENST00000485325,;	C	ENST00000341068	Transcript	stop_gained	3775/8262	3002/5835	1001/1944	S/*	tCa/tGa		1		-1	ANAPC1	HGNC	HGNC:19988	protein_coding	YES	CCDS2093.1	ENSP00000339109	Q9H1A4		UPI000006EC6E	NM_022662.3			26/48		hmmpanther:PTHR12827																	HIGH	1	SNV	1			1										PASS		rs1267218406	.												C	4	2	29	111821443	111821443	G	C	1	0	0	0	0	0	1	0	0	695	1294	45	4		4	ANAPC1	2	111821443	Nonsense_Mutation	SNP	G	C3L-01924_TP	4978116	111821443	130372086	87	8402											
UGGT1	0	.	GRCh38	chr2	128182178	128182178	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatttcaatttggatggtGctccttatggttacactcct	8	16	9	8	0	1	1	1	0	0	1	3	3	3	2	2	3	2	2	2	3	3	4	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.4132G>C	p.Ala1378Pro	p.A1378P	ENST00000259253	37/41	153	118	35	201	201	0	strelka-varscan-mutect	UGGT1,missense_variant,p.Ala1378Pro,ENST00000259253,NM_020120.3;UGGT1,intron_variant,,ENST00000418197,;UGGT1,3_prime_UTR_variant,,ENST00000376723,;	C	ENST00000259253	Transcript	missense_variant	4179/10650	4132/4668	1378/1555	A/P	Gct/Cct		1		1	UGGT1	HGNC	HGNC:15663	protein_coding	YES	CCDS2154.1	ENSP00000259253	Q9NYU2		UPI00000707D8	NM_020120.3	deleterious(0)		37/41		Gene3D:3.90.550.10,hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF3,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	128182178	128182178	G	C	1	0	0	0	0	1	0	0	0	17466	1319	46	4		4	UGGT1	2	128182178	Missense_Mutation	SNP	G	C3L-01924_TP	16360735	128182178	114011351	88	8403											
AMER3	0	.	GRCh38	chr2	130764570	130764570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagtgccccagaatgccGctgcagcctcctggcccgtg	6	7	12	16	2	0	1	0	0	0	1	1	1	1	1	6	1	5	3	6	1	2	0	rs752266201		C3L-01924_TP	C3L-01924_NB	G	G																c.2498G>T	p.Arg833Leu	p.R833L	ENST00000423981	2/2	166	144	22	203	203	0	strelka-varscan-mutect	AMER3,missense_variant,p.Arg833Leu,ENST00000423981,NM_001105193.1,NM_001105195.1,NM_001105194.1;AMER3,missense_variant,p.Arg833Leu,ENST00000321420,NM_152698.2;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	T	ENST00000423981	Transcript	missense_variant	2608/6172	2498/2586	833/861	R/L	cGc/cTc	rs752266201	1		1	AMER3	HGNC	HGNC:26771	protein_coding	YES	CCDS2164.1	ENSP00000392700	Q8N944		UPI0000D61239	NM_001105193.1,NM_001105195.1,NM_001105194.1	tolerated(0.6)		2/2		hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2																	MODERATE	1	SNV	4			1										PASS		rs752266201	.												T	3	4	29	130764570	130764570	G	T	1	0	0	0	0	1	0	0	0	669	1087	38	1		1	AMER3	2	130764570	Missense_Mutation	SNP	G	C3L-01924_TP	2582392	130764570	111428959	89	8404											
POTEE	0	.	GRCh38	chr2	131263729	131263729	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctatgtgggcaaggaggcCcagagcaagagaggcatcct	11	6	14	10	0	0	2	0	0	0	2	2	4	2	3	3	4	1	3	3	4	3	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2274C>A	p.=	p.A758A	ENST00000356920	15/15	182	143	39	241	240	1	strelka-varscan-mutect	POTEE,synonymous_variant,p.=,ENST00000356920,NM_001083538.1;PLEKHB2,intron_variant,,ENST00000404460,;POTEE,downstream_gene_variant,,ENST00000626191,;POTEE,downstream_gene_variant,,ENST00000613282,;POTEE,downstream_gene_variant,,ENST00000358087,;POTEE,downstream_gene_variant,,ENST00000514256,;	A	ENST00000356920	Transcript	synonymous_variant	2610/4159	2274/3228	758/1075	A	gcC/gcA		1		1	POTEE	HGNC	HGNC:33895	protein_coding	YES	CCDS46414.1	ENSP00000439189	Q6S8J3		UPI0000F58EC8	NM_001083538.1			15/15		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	29	131263729	131263729	C	A	1	0	0	0	0	0	0	0	1	12378	610	22	2		2	POTEE	2	131263729	Silent	SNP	C	C3L-01924_TP	499159	131263729	110929800	90	8405											
THSD7B	0	.	GRCh38	chr2	137656875	137656875	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaagctttgagactgtGggccgccagtctagatcaag	11	8	14	8	1	2	3	1	1	1	3	2	5	2	4	2	2	1	1	2	2	4	2	rs755829942		C3L-01924_TP	C3L-01924_NB	G	G																c.4191G>T	p.=	p.V1397V	ENST00000272643	22/27	182	130	52	186	186	0	strelka-varscan-mutect	THSD7B,synonymous_variant,p.=,ENST00000409968,NM_001316349.1;THSD7B,synonymous_variant,p.=,ENST00000272643,;THSD7B,synonymous_variant,p.=,ENST00000413152,NM_001080427.1;THSD7B,downstream_gene_variant,,ENST00000480352,;	T	ENST00000272643	Transcript	synonymous_variant	4191/5939	4191/4827	1397/1608	V	gtG/gtT	rs755829942	1		1	THSD7B	HGNC	HGNC:29348	protein_coding	YES		ENSP00000272643	Q9C0I4		UPI0004E4C87A				22/27		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7,SMART_domains:SM00209,Superfamily_domains:SSF82895																	LOW	1	SNV	5			1										PASS		rs755829942	.												T	2	4	29	137656875	137656875	G	T	1	0	0	0	0	0	0	0	1	16314	1335	47	2		2	THSD7B	2	137656875	Silent	SNP	G	C3L-01924_TP	6393146	137656875	104536654	91	8406											
LRP1B	0	.	GRCh38	chr2	140334537	140334537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatatgggaatgatcccCaacaacagtccagtacatca	14	10	6	11	0	2	1	1	1	1	0	4	2	4	2	3	1	3	1	3	1	6	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.12139G>T	p.Gly4047Trp	p.G4047W	ENST00000389484	79/91	82	60	22	115	115	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Gly4047Trp,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Gly279Trp,ENST00000437977,;	A	ENST00000389484	Transcript	missense_variant	13111/16535	12139/13800	4047/4599	G/W	Ggg/Tgg		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0)		79/91		PROSITE_profiles:PS51120,Pfam_domain:PF00058,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	140334537	140334537	C	A	1	0	0	0	0	1	0	0	0	8850	594	21	2		2	LRP1B	2	140334537	Missense_Mutation	SNP	C	C3L-01924_TP	2677662	140334537	101858992	92	8407											
KCNH7	0	.	GRCh38	chr2	162446240	162446240	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggctacaagaatagccAcattctcgtcttttctgttc	11	13	7	10	1	3	1	0	0	3	1	5	1	3	1	1	1	2	2	1	1	5	6	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.1332T>A	p.Cys444Ter	p.C444*	ENST00000332142	7/16	281	208	73	363	363	0	strelka-varscan-mutect	KCNH7,stop_gained,p.Cys444Ter,ENST00000332142,NM_033272.3;KCNH7,stop_gained,p.Cys344Ter,ENST00000618399,;KCNH7,stop_gained,p.Cys437Ter,ENST00000328032,NM_173162.2;KCNH7,stop_gained,p.Cys335Ter,ENST00000621889,;	T	ENST00000332142	Transcript	stop_gained	1432/4113	1332/3591	444/1196	C/*	tgT/tgA		1		-1	KCNH7	HGNC	HGNC:18863	protein_coding	YES	CCDS2219.1	ENSP00000331727	Q9NS40		UPI0000167D11	NM_033272.3			7/16		hmmpanther:PTHR10217:SF466,hmmpanther:PTHR10217,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324																	HIGH	1	SNV	1			1										PASS		rs1469001235	.												T	4	4	29	162446240	162446240	A	T	1	0	0	0	0	0	1	0	0	7953	157	6	4		4	KCNH7	2	162446240	Nonsense_Mutation	SNP	A	C3L-01924_TP	22111703	162446240	79747289	93	8408											
SCN3A	0	.	GRCh38	chr2	165131348	165131348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagatattccagccttcttGgaaatagtaataaggatcca	16	11	7	7	0	1	1	0	0	1	1	3	3	3	3	3	2	1	1	3	2	6	7	rs367827161		C3L-01924_TP	C3L-01924_NB	G	G																c.2461C>A	p.Gln821Lys	p.Q821K	ENST00000283254	16/28	295	280	15	331	331	0	strelka-varscan-mutect	SCN3A,missense_variant,p.Gln821Lys,ENST00000360093,;SCN3A,missense_variant,p.Gln821Lys,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,missense_variant,p.Gln772Lys,ENST00000409101,NM_001081677.1;SCN3A,missense_variant,p.Gln772Lys,ENST00000440431,;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000625505,;AC013463.2,downstream_gene_variant,,ENST00000628085,;SCN3A,upstream_gene_variant,,ENST00000484898,;	T	ENST00000283254	Transcript	missense_variant	2929/9091	2461/6003	821/2000	Q/K	Caa/Aaa	rs367827161	1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1	deleterious(0)		16/28		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		rs367827161	.												T	3	4	29	165131348	165131348	G	T	1	0	0	0	0	1	0	0	0	14187	1357	47	2		2	SCN3A	2	165131348	Missense_Mutation	SNP	G	C3L-01924_TP	2685108	165131348	77062181	94	8409											
CSRNP3	0	.	GRCh38	chr2	165679189	165679189	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcgtggaaggtttgggCacccatgccgaagttgtccc	6	10	14	11	2	0	0	0	0	0	0	2	2	1	1	3	4	1	4	3	4	2	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1194C>G	p.=	p.G398G	ENST00000314499	7/7	160	145	15	242	242	0	strelka-varscan-mutect	CSRNP3,synonymous_variant,p.=,ENST00000314499,NM_001172173.1;CSRNP3,synonymous_variant,p.=,ENST00000342316,NM_024969.3;CSRNP3,synonymous_variant,p.=,ENST00000409420,;CSRNP3,synonymous_variant,p.=,ENST00000421875,;CSRNP3,downstream_gene_variant,,ENST00000409664,;	G	ENST00000314499	Transcript	synonymous_variant	1570/11788	1194/1758	398/585	G	ggC/ggG		1		1	CSRNP3	HGNC	HGNC:30729	protein_coding	YES	CCDS2225.1	ENSP00000318258	Q8WYN3		UPI0000136882	NM_001172173.1			7/7		hmmpanther:PTHR13580,hmmpanther:PTHR13580:SF13																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	29	165679189	165679189	C	G	1	0	0	0	0	0	0	0	1	3766	697	25	4		4	CSRNP3	2	165679189	Silent	SNP	C	C3L-01924_TP	547841	165679189	76514340	95	8410											
SCN7A	0	.	GRCh38	chr2	166465882	166465882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaagttgcccatgaagagcCccatcccaattagagaaaat	15	8	7	11	0	1	3	1	1	0	2	2	4	2	3	4	0	2	1	4	0	6	2	rs560243693		C3L-01924_TP	C3L-01924_NB	C	C																c.770G>T	p.Gly257Val	p.G257V	ENST00000409855	7/25	278	206	72	330	329	1	strelka-varscan-mutect	SCN7A,missense_variant,p.Gly257Val,ENST00000619410,;SCN7A,missense_variant,p.Gly257Val,ENST00000621965,;SCN7A,missense_variant,p.Gly257Val,ENST00000409855,NM_002976.3;SCN7A,missense_variant,p.Gly257Val,ENST00000419992,;SCN7A,missense_variant,p.Gly257Val,ENST00000441411,;SCN7A,missense_variant,p.Gly257Val,ENST00000424326,;SCN7A,upstream_gene_variant,,ENST00000497562,;	A	ENST00000409855	Transcript	missense_variant	897/7183	770/5049	257/1682	G/V	gGg/gTg	rs560243693	1		-1	SCN7A	HGNC	HGNC:10594	protein_coding	YES	CCDS46442.1	ENSP00000386796	Q01118		UPI0000209019	NM_002976.3	deleterious(0)		7/25		Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		rs560243693	.												A	3	1	29	166465882	166465882	C	A	1	0	0	0	0	1	0	0	0	14192	623	22	2		2	SCN7A	2	166465882	Missense_Mutation	SNP	C	C3L-01924_TP	786693	166465882	75727647	96	8411											
XIRP2	0	.	GRCh38	chr2	167246534	167246534	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaataggtggtgatgtcaaAcgtaccattcataatttatt	13	15	8	5	1	2	1	2	1	0	0	2	1	2	1	1	2	2	2	1	2	6	8	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.5142A>G	p.=	p.K1714K	ENST00000409195	9/11	135	116	19	193	193	0	strelka-varscan-mutect	XIRP2,synonymous_variant,p.=,ENST00000409195,NM_152381.5;XIRP2,synonymous_variant,p.=,ENST00000409273,NM_001199144.1;XIRP2,synonymous_variant,p.=,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	G	ENST00000409195	Transcript	synonymous_variant	5231/12675	5142/10650	1714/3549	K	aaA/aaG		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5			9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	29	167246534	167246534	A	G	1	0	0	0	0	0	0	0	1	17989	40	2	5		5	XIRP2	2	167246534	Silent	SNP	A	C3L-01924_TP	780652	167246534	74946995	97	8412											
DYNC1I2	0	.	GRCh38	chr2	171725638	171725638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaagaggaagatgatgatGtagtggctcctaaaccacct	14	9	11	7	0	0	5	0	3	0	2	1	6	1	6	3	2	1	2	3	2	5	2	rs372723362		C3L-01924_TP	C3L-01924_NB	G	G																c.532G>T	p.Val178Leu	p.V178L	ENST00000397119	8/18	97	74	23	135	135	0	strelka-varscan-mutect	DYNC1I2,missense_variant,p.Val178Leu,ENST00000397119,NM_001378.2;DYNC1I2,missense_variant,p.Val152Leu,ENST00000340296,NM_001271788.1;DYNC1I2,missense_variant,p.Val178Leu,ENST00000409773,NM_001271785.1;DYNC1I2,missense_variant,p.Val152Leu,ENST00000409197,NM_001271789.1;DYNC1I2,missense_variant,p.Val178Leu,ENST00000409453,;DYNC1I2,missense_variant,p.Val152Leu,ENST00000508530,NM_001271790.1;DYNC1I2,missense_variant,p.Val172Leu,ENST00000409317,;DYNC1I2,missense_variant,p.Val170Leu,ENST00000410079,NM_001271786.1,NM_001271787.1;DYNC1I2,missense_variant,p.Val152Leu,ENST00000435234,;DYNC1I2,missense_variant,p.Val172Leu,ENST00000452242,;DYNC1I2,missense_variant,p.Val190Leu,ENST00000438879,;DYNC1I2,missense_variant,p.Val170Leu,ENST00000456808,;DYNC1I2,missense_variant,p.Val152Leu,ENST00000425485,;DYNC1I2,missense_variant,p.Val170Leu,ENST00000423910,;DYNC1I2,missense_variant,p.Val172Leu,ENST00000422646,;DYNC1I2,missense_variant,p.Met121Ile,ENST00000445378,;DYNC1I2,non_coding_transcript_exon_variant,,ENST00000482454,;DYNC1I2,non_coding_transcript_exon_variant,,ENST00000470286,;DYNC1I2,upstream_gene_variant,,ENST00000479806,;	T	ENST00000397119	Transcript	missense_variant	699/2604	532/1917	178/638	V/L	Gta/Tta	rs372723362	1		1	DYNC1I2	HGNC	HGNC:2964	protein_coding	YES	CCDS46450.1	ENSP00000380308	Q13409	A0A140VKE9	UPI0000129A05	NM_001378.2	tolerated(0.73)		8/18		hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF36																	MODERATE	1	SNV	2			1										PASS		rs372723362	.												T	3	4	29	171725638	171725638	G	T	1	0	0	0	0	1	0	0	0	4667	1377	48	2		2	DYNC1I2	2	171725638	Missense_Mutation	SNP	G	C3L-01924_TP	4479104	171725638	70467891	98	8413											
TTC30A	0	.	GRCh38	chr2	177618156	177618156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctggtagcccgaggcCtgcagtgtggcagaaaactt	9	8	14	10	1	1	1	1	0	0	1	1	2	1	1	2	4	3	4	2	4	3	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.546G>T	p.Gln182His	p.Q182H	ENST00000355689	1/1	328	240	88	339	339	0	strelka-varscan-mutect	TTC30A,missense_variant,p.Gln182His,ENST00000355689,NM_152275.3;AC073834.3,intron_variant,,ENST00000357045,;	A	ENST00000355689	Transcript	missense_variant	811/5975	546/1998	182/665	Q/H	caG/caT		1		-1	TTC30A	HGNC	HGNC:25853	protein_coding	YES	CCDS2276.1	ENSP00000347915	Q86WT1		UPI0000209161	NM_152275.3	tolerated(0.12)		1/1		PROSITE_profiles:PS50293,hmmpanther:PTHR20931:SF3,hmmpanther:PTHR20931,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452,Superfamily_domains:SSF48452																	MODERATE		SNV				1										PASS		.	.												A	3	1	29	177618156	177618156	C	A	1	0	0	0	0	1	0	0	0	17207	680	24	2		2	TTC30A	2	177618156	Missense_Mutation	SNP	C	C3L-01924_TP	5892518	177618156	64575373	99	8414											
TTN	0	.	GRCh38	chr2	178615706	178615706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccagggccacatttgttaCgagcacaaactttaaataag	14	10	7	10	1	0	0	0	0	0	0	1	1	1	0	2	1	3	2	2	1	5	5	rs397517593		C3L-01924_TP	C3L-01924_NB	C	C																c.48395G>C	p.Arg16132Pro	p.R16132P	ENST00000589042	258/363	229	215	14	304	304	0	strelka-varscan-mutect	TTN,missense_variant,p.Arg16132Pro,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Arg14491Pro,ENST00000591111,;TTN,missense_variant,p.Arg14491Pro,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Arg13564Pro,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Arg7067Pro,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Arg7259Pro,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Arg7192Pro,ENST00000359218,NM_133432.3;RP11-171I2.4,upstream_gene_variant,,ENST00000605334,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000627527,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,upstream_gene_variant,,ENST00000604956,;TTN-AS1,downstream_gene_variant,,ENST00000589234,;TTN-AS1,downstream_gene_variant,,ENST00000610290,;	G	ENST00000589042	Transcript	missense_variant	48620/109224	48395/107976	16132/35991	R/P	cGt/cCt	rs397517593,COSM1402937,COSM1402938,COSM1402939,COSM1402940,COSM5287272,COSM5287273,COSM5287274,COSM5287275	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			258/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265										uncertain_significance	0,1,1,1,1,1,1,1,1						MODERATE	1	SNV	5		1,1,1,1,1,1,1,1,1	1										PASS		rs397517593	.												G	3	3	29	178615706	178615706	C	G	1	0	0	0	0	1	0	0	0	17245	536	19	4		4	TTN	2	178615706	Missense_Mutation	SNP	C	C3L-01924_TP	997550	178615706	63577823	100	8415											
ZNF804A	0	.	GRCh38	chr2	184937423	184937423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatgaagaaatgtgtaaaaCatggaatactgaatacaaca	21	8	7	5	0	0	3	0	2	0	1	0	4	0	4	0	1	4	1	0	1	10	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2027C>A	p.Thr676Lys	p.T676K	ENST00000302277	4/4	105	88	17	164	164	0	strelka-varscan-mutect	ZNF804A,missense_variant,p.Thr676Lys,ENST00000302277,NM_194250.1;ZNF804A,missense_variant,p.Thr591Lys,ENST00000613975,;	A	ENST00000302277	Transcript	missense_variant	2621/4690	2027/3630	676/1209	T/K	aCa/aAa		1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1	tolerated(0.09)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	184937423	184937423	C	A	1	0	0	0	0	1	0	0	0	18755	478	17	2		2	ZNF804A	2	184937423	Missense_Mutation	SNP	C	C3L-01924_TP	6321717	184937423	57256106	101	8416											
ZNF804A	0	.	GRCh38	chr2	184937718	184937718	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctatcgaaaacgtagacaAcattcacattcttattcttc	13	15	3	10	2	4	1	1	0	3	1	6	2	4	1	0	0	2	1	0	0	6	8	rs751143229		C3L-01924_TP	C3L-01924_NB	A	A																c.2322A>T	p.Gln774His	p.Q774H	ENST00000302277	4/4	170	156	14	225	225	0	strelka-varscan-mutect	ZNF804A,missense_variant,p.Gln774His,ENST00000302277,NM_194250.1;ZNF804A,missense_variant,p.Gln689His,ENST00000613975,;	T	ENST00000302277	Transcript	missense_variant	2916/4690	2322/3630	774/1209	Q/H	caA/caT	rs751143229	1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1	deleterious(0.04)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13																	MODERATE	1	SNV	1			1										PASS		rs751143229	.												T	3	4	29	184937718	184937718	A	T	1	0	0	0	0	1	0	0	0	18755	40	2	4		4	ZNF804A	2	184937718	Missense_Mutation	SNP	A	C3L-01924_TP	295	184937718	57255811	102	8417											
ZNF804A	0	.	GRCh38	chr2	184938430	184938430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccattcaaagaagcacatGtcagtggtcatacttttgta	13	13	7	8	0	3	1	3	0	0	1	3	1	3	1	1	1	3	2	1	1	5	6	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.3034G>A	p.Val1012Ile	p.V1012I	ENST00000302277	4/4	185	139	46	243	243	0	strelka-varscan-mutect	ZNF804A,missense_variant,p.Val1012Ile,ENST00000302277,NM_194250.1;ZNF804A,missense_variant,p.Val927Ile,ENST00000613975,;	A	ENST00000302277	Transcript	missense_variant	3628/4690	3034/3630	1012/1209	V/I	Gtc/Atc		1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1	tolerated(0.28)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13																	MODERATE	1	SNV	1			1										PASS		rs1487864350	.												A	3	1	29	184938430	184938430	G	A	1	0	0	0	0	1	0	0	0	18755	1377	48	3		3	ZNF804A	2	184938430	Missense_Mutation	SNP	G	C3L-01924_TP	712	184938430	57255099	103	8418											
FSIP2	0	.	GRCh38	chr2	185796312	185796312	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccgagtcaaatactattaAtttcaaggaaaacatacaga	19	10	5	7	1	2	1	2	0	0	1	3	3	3	2	1	1	3	0	1	1	8	5	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.9443A>C	p.Asn3148Thr	p.N3148T	ENST00000343098	16/23	145	123	22	193	193	0	strelka-varscan-mutect	FSIP2,missense_variant,p.Asn3148Thr,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Asn3059Thr,ENST00000424728,;FSIP2-AS1,intron_variant,,ENST00000436557,;FSIP2-AS1,intron_variant,,ENST00000429929,;FSIP2,missense_variant,p.Asn566Thr,ENST00000415915,;	C	ENST00000343098	Transcript	missense_variant	9443/21054	9443/20991	3148/6996	N/T	aAt/aCt		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	tolerated(0.06)		16/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	29	185796312	185796312	A	C	1	0	0	0	0	1	0	0	0	5949	101	4	5		5	FSIP2	2	185796312	Missense_Mutation	SNP	A	C3L-01924_TP	857882	185796312	56397217	104	8419											
CALCRL	0	.	GRCh38	chr2	187360679	187360679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtgtgtaggtaaatgcCttcacagagcatccaaaagt	13	10	11	7	0	1	1	1	0	0	1	2	2	2	1	2	1	2	3	2	1	5	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.700G>T	p.Gly234Cys	p.G234C	ENST00000409998	11/16	160	142	18	170	170	0	strelka-varscan-mutect	CALCRL,missense_variant,p.Gly234Cys,ENST00000409998,;CALCRL,missense_variant,p.Gly234Cys,ENST00000392370,NM_005795.5;CALCRL,missense_variant,p.Gly234Cys,ENST00000410068,NM_001271751.1;AC007319.1,intron_variant,,ENST00000412276,;AC007319.1,intron_variant,,ENST00000453517,;	A	ENST00000409998	Transcript	missense_variant	1482/5223	700/1386	234/461	G/C	Ggc/Tgc		1		-1	CALCRL	HGNC	HGNC:16709	protein_coding	YES	CCDS2293.1	ENSP00000386972	Q16602		UPI00000503EF		deleterious(0)		11/16		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF67,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	187360679	187360679	C	A	1	0	0	0	0	1	0	0	0	2270	681	24	2		2	CALCRL	2	187360679	Missense_Mutation	SNP	C	C3L-01924_TP	1564367	187360679	54832850	105	8420											
COL3A1	0	.	GRCh38	chr2	188997385	188997385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagggacccccagggcCtactgtaagttcactcatat	10	9	8	14	0	3	0	3	0	0	0	3	1	3	1	4	2	1	2	4	2	3	4			C3L-01924_TP	C3L-01924_NB	C	C																c.1865C>A	p.Pro622His	p.P622H	ENST00000304636	26/51	291	263	28	374	371	3	strelka-mutect	COL3A1,missense_variant,p.Pro622His,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Pro622His,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000450867,;COL3A1,downstream_gene_variant,,ENST00000637672,;	A	ENST00000304636	Transcript	missense_variant	2035/5543	1865/4401	622/1466	P/H	cCt/cAt	COSM4473659,COSM4473660	1		1	COL3A1	HGNC	HGNC:2201	protein_coding	YES	CCDS2297.1	ENSP00000304408	P02461		UPI0000456EBA	NM_000090.3	deleterious(0)		26/51		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	29	188997385	188997385	C	A	1	0	0	0	0	1	0	0	0	3477	695	24	2		2	COL3A1	2	188997385	Missense_Mutation	SNP	C	C3L-01924_TP	1636706	188997385	53196144	106	8421											
SGO2	0	.	GRCh38	chr2	200573899	200573899	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagtgctccccagcctttCaagtaagtgatgatgagcat	10	11	11	9	0	1	3	1	3	0	0	2	4	2	4	3	1	3	3	3	1	2	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.3553C>T	p.Gln1185Ter	p.Q1185*	ENST00000357799	7/9	85	77	8	124	124	0	strelka-mutect	SGO2,stop_gained,p.Gln1185Ter,ENST00000357799,NM_001160046.1,NM_001160033.1,NM_152524.5;SGO2,downstream_gene_variant,,ENST00000409203,;	T	ENST00000357799	Transcript	stop_gained	3651/4214	3553/3798	1185/1265	Q/*	Caa/Taa		1		1	SGO2	HGNC	HGNC:30812	protein_coding	YES	CCDS42796.1	ENSP00000350447	Q562F6		UPI00001AEBF5	NM_001160046.1,NM_001160033.1,NM_152524.5			7/9		hmmpanther:PTHR21577,hmmpanther:PTHR21577:SF5																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	29	200573899	200573899	C	T	1	0	0	0	0	0	1	0	0	14475	827	29	3		3	SGO2	2	200573899	Nonsense_Mutation	SNP	C	C3L-01924_TP	11576514	200573899	41619630	107	8422											
MAP2	0	.	GRCh38	chr2	209693260	209693260	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggcccagctactgccaaaGatagttttaaaattgaagag	14	10	10	7	0	0	3	0	1	0	2	0	3	0	3	2	1	3	2	2	1	6	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1090G>C	p.Asp364His	p.D364H	ENST00000360351	7/15	171	134	37	193	193	0	strelka-varscan-mutect	MAP2,missense_variant,p.Asp364His,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Asp360His,ENST00000447185,;MAP2,missense_variant,p.Asp446His,ENST00000445941,;MAP2,intron_variant,,ENST00000392194,NM_031845.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;	C	ENST00000360351	Transcript	missense_variant	1596/9711	1090/5484	364/1827	D/H	Gat/Cat		1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3	deleterious_low_confidence(0)		7/15		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	29	209693260	209693260	G	C	1	0	0	0	0	1	0	0	0	9157	942	33	4		4	MAP2	2	209693260	Missense_Mutation	SNP	G	C3L-01924_TP	9119361	209693260	32500269	108	8423											
UNC80	0	.	GRCh38	chr2	209995362	209995362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccactgaagaaggagaaaagGaggaggacacagaagcacaa	20	1	13	7	0	0	4	0	1	0	3	0	8	0	7	1	4	1	1	1	4	6	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.9544G>C	p.Glu3182Gln	p.E3182Q	ENST00000439458	64/64	183	160	23	246	246	0	strelka-varscan-mutect	UNC80,missense_variant,p.Glu3182Gln,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Glu3158Gln,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000477924,;	C	ENST00000439458	Transcript	missense_variant	9624/13562	9544/9777	3182/3258	E/Q	Gag/Cag		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1	tolerated_low_confidence(0.15)		64/64		Low_complexity_(Seg):seg,hmmpanther:PTHR31781:SF1,hmmpanther:PTHR31781																	MODERATE	1	SNV	5			1										PASS		rs1400301227	.												C	3	2	29	209995362	209995362	G	C	1	0	0	0	0	1	0	0	0	17521	1175	41	4		4	UNC80	2	209995362	Missense_Mutation	SNP	G	C3L-01924_TP	302102	209995362	32198167	109	8424											
TNS1	0	.	GRCh38	chr2	217818606	217818606	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagctactgcccacagtCgggagaggagaagagctctg	10	7	14	10	1	1	3	0	0	1	3	2	5	1	3	1	2	4	3	1	2	3	2	rs367925904		C3L-01924_TP	C3L-01924_NB	C	C																c.3414G>T	p.=	p.P1138P	ENST00000171887	24/33	266	242	24	280	279	1	strelka-varscan-mutect	TNS1,synonymous_variant,p.=,ENST00000171887,NM_022648.4;TNS1,synonymous_variant,p.=,ENST00000611415,;TNS1,synonymous_variant,p.=,ENST00000615025,;TNS1,synonymous_variant,p.=,ENST00000419504,;TNS1,synonymous_variant,p.=,ENST00000430930,NM_001308023.1;TNS1,synonymous_variant,p.=,ENST00000446688,;TNS1,upstream_gene_variant,,ENST00000490566,;TNS1,upstream_gene_variant,,ENST00000495556,;	A	ENST00000171887	Transcript	synonymous_variant	3867/10331	3414/5208	1138/1735	P	ccG/ccT	rs367925904	1		-1	TNS1	HGNC	HGNC:11973	protein_coding	YES	CCDS2407.1	ENSP00000171887	Q9HBL0		UPI0000456EEB	NM_022648.4			24/33																			LOW	1	SNV	1			1										PASS		rs367925904	.												A	2	1	29	217818606	217818606	C	A	1	0	0	0	0	0	0	0	1	16816	871	31	1		1	TNS1	2	217818606	Silent	SNP	C	C3L-01924_TP	7823244	217818606	24374923	110	8425											
CATIP	0	.	GRCh38	chr2	218367887	218367887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtggcgtccgtcgtcaccgGccttgggctcctcccaccgg	2	8	13	18	6	1	0	1	0	0	0	5	0	4	0	6	4	0	1	6	4	0	1	rs142470785		C3L-01924_TP	C3L-01924_NB	G	G																c.1087G>T	p.Ala363Ser	p.A363S	ENST00000289388	10/10	264	173	91	311	311	0	strelka-varscan-mutect	CATIP,missense_variant,p.Ala363Ser,ENST00000289388,NM_198559.1;CATIP-AS1,upstream_gene_variant,,ENST00000441749,;CATIP,non_coding_transcript_exon_variant,,ENST00000481940,;CATIP,non_coding_transcript_exon_variant,,ENST00000494447,;CATIP-AS1,upstream_gene_variant,,ENST00000425481,;	T	ENST00000289388	Transcript	missense_variant	1116/1323	1087/1164	363/387	A/S	Gcc/Tcc	rs142470785	1		1	CATIP	HGNC	HGNC:25062	protein_coding	YES	CCDS2414.1	ENSP00000289388	Q7Z7H3		UPI000019B2D3	NM_198559.1	tolerated(0.7)		10/10		hmmpanther:PTHR15505,hmmpanther:PTHR15505:SF3																	MODERATE	1	SNV	1			1										PASS		rs142470785	.												T	3	4	29	218367887	218367887	G	T	1	0	0	0	0	1	0	0	0	2386	1203	42	2		2	CATIP	2	218367887	Missense_Mutation	SNP	G	C3L-01924_TP	549281	218367887	23825642	111	8426											
TMEM198	0	.	GRCh38	chr2	219549847	219549847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcaggccccccagtgcGggtatagccatatctgtctg	6	10	11	14	1	3	0	1	0	2	0	3	0	3	0	4	2	3	2	4	2	3	3	rs374243531		C3L-01924_TP	C3L-01924_NB	G	G																c.1076G>T	p.Arg359Leu	p.R359L	ENST00000344458	6/6	94	78	16	92	92	0	strelka-varscan-mutect	TMEM198,missense_variant,p.Arg359Leu,ENST00000344458,NM_001303098.1;TMEM198,missense_variant,p.Arg359Leu,ENST00000373883,NM_001005209.2;OBSL1,downstream_gene_variant,,ENST00000404537,NM_015311.2;OBSL1,downstream_gene_variant,,ENST00000373876,;TMEM198,downstream_gene_variant,,ENST00000421791,;TMEM198,downstream_gene_variant,,ENST00000451952,;MIR3132,upstream_gene_variant,,ENST00000581997,;RP11-256I23.1,upstream_gene_variant,,ENST00000596829,;OBSL1,downstream_gene_variant,,ENST00000465149,;OBSL1,downstream_gene_variant,,ENST00000489804,;OBSL1,downstream_gene_variant,,ENST00000462534,;OBSL1,downstream_gene_variant,,ENST00000596474,;	T	ENST00000344458	Transcript	missense_variant	1661/2393	1076/1083	359/360	R/L	cGg/cTg	rs374243531	1		1	TMEM198	HGNC	HGNC:33704	protein_coding	YES	CCDS33385.1	ENSP00000343507	Q66K66	A0A024R483	UPI0000160257	NM_001303098.1	deleterious_low_confidence(0)		6/6		hmmpanther:PTHR31247,hmmpanther:PTHR31247:SF7																	MODERATE	1	SNV	1			1										PASS		rs374243531	.												T	3	4	29	219549847	219549847	G	T	1	0	0	0	0	1	0	0	0	16559	1116	39	1		1	TMEM198	2	219549847	Missense_Mutation	SNP	G	C3L-01924_TP	1181960	219549847	22643682	112	8427											
SPHKAP	0	.	GRCh38	chr2	228019777	228019777	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgcttctctgctctgcCacagcacatgcagaaggtac	9	10	10	12	0	2	1	0	0	2	1	3	1	2	1	1	2	6	6	1	2	2	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1077G>T	p.=	p.V359V	ENST00000392056	7/12	142	125	17	200	200	0	strelka-varscan-mutect	SPHKAP,synonymous_variant,p.=,ENST00000392056,NM_001142644.1;SPHKAP,synonymous_variant,p.=,ENST00000344657,NM_030623.3;	A	ENST00000392056	Transcript	synonymous_variant	1124/6917	1077/5103	359/1700	V	gtG/gtT		1		-1	SPHKAP	HGNC	HGNC:30619	protein_coding	YES	CCDS46537.1	ENSP00000375909	Q2M3C7		UPI0000411D7E	NM_001142644.1			7/12		hmmpanther:PTHR10226:SF7,hmmpanther:PTHR10226																	LOW	1	SNV	1			1										PASS		rs1198639071	.												A	2	1	29	228019777	228019777	C	A	1	0	0	0	0	0	0	0	1	15399	581	21	2		2	SPHKAP	2	228019777	Silent	SNP	C	C3L-01924_TP	8469930	228019777	14173752	113	8428											
MROH2A	0	.	GRCh38	chr2	233807436	233807436	+	Missense_Mutation	SNP	G	G	C																															tctccagggctttctgtaccGggccttgggcttcaccttgg																								rs751340296		C3L-01924_TP	C3L-01924_NB	G	G																c.2075G>C	p.Arg692Pro	p.R692P	ENST00000610772	20/42	78	67	11	101	101	0	strelka-varscan-mutect	MROH2A,missense_variant,p.Arg689Pro,ENST00000389758,;MROH2A,missense_variant,p.Arg692Pro,ENST00000610772,NM_001287395.1;MROH2A,downstream_gene_variant,,ENST00000477506,;	C	ENST00000610772	Transcript	missense_variant	2168/5324	2075/5067	692/1688	R/P	cGg/cCg	rs751340296	1		1	MROH2A	HGNC	HGNC:27936	protein_coding	YES	CCDS74674.1	ENSP00000477597		A0A087WT58	UPI00021AED4F	NM_001287395.1	deleterious(0)		20/42		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14																	MODERATE	1	SNV	5			1										PASS		rs751340296	.												C	3	2	29	233807436	233807436	G	C	1	0	0	0	0	1	0	0	0	9744	1116	39	4		4	MROH2A	2	233807436	Missense_Mutation	SNP	G	C3L-01924_TP	5787659	233807436	8386093	114	8429	195	2									
MROH2A	0	.	GRCh38	chr2	233807437	233807437	+	Silent	SNP	G	G	T																															ctccagggctttctgtaccgGgccttgggcttcaccttggc																								novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2076G>T	p.=	p.R692R	ENST00000610772	20/42	80	68	12	100	100	0	strelka-varscan-mutect	MROH2A,synonymous_variant,p.=,ENST00000389758,;MROH2A,synonymous_variant,p.=,ENST00000610772,NM_001287395.1;MROH2A,downstream_gene_variant,,ENST00000477506,;	T	ENST00000610772	Transcript	synonymous_variant	2169/5324	2076/5067	692/1688	R	cgG/cgT		1		1	MROH2A	HGNC	HGNC:27936	protein_coding	YES	CCDS74674.1	ENSP00000477597		A0A087WT58	UPI00021AED4F	NM_001287395.1			20/42		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	29	233807437	233807437	G	T	1	0	0	0	0	0	0	0	1	9744	1219	43	2		2	MROH2A	2	233807437	Silent	SNP	G	C3L-01924_TP	1	233807437	8386092	115	8430	195	2									
COL6A3	0	.	GRCh38	chr2	237366794	237366794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggacgttgcccacgCggaacgctgtggcgctgttg	4	9	15	13	5	0	0	0	0	0	0	1	2	1	2	2	3	2	5	2	3	1	2	rs371441617		C3L-01924_TP	C3L-01924_NB	C	C																c.5393G>T	p.Arg1798Leu	p.R1798L	ENST00000295550	11/44	307	280	27	390	389	1	strelka-varscan-mutect	COL6A3,missense_variant,p.Arg1798Leu,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Arg1592Leu,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Arg1592Leu,ENST00000409809,;COL6A3,missense_variant,p.Arg1191Leu,ENST00000472056,NM_057166.4;COL6A3,missense_variant,p.Arg1191Leu,ENST00000347401,;COL6A3,downstream_gene_variant,,ENST00000392004,NM_057165.4;COL6A3,downstream_gene_variant,,ENST00000392003,NM_057164.4;	A	ENST00000295550	Transcript	missense_variant	5846/10749	5393/9534	1798/3177	R/L	cGc/cTc	rs371441617,COSM210539	1		-1	COL6A3	HGNC	HGNC:2213	protein_coding	YES	CCDS33412.1	ENSP00000295550	P12111	D9ZGF2	UPI0000456F39	NM_004369.3	deleterious(0.03)		11/44		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF74,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs371441617	.												A	3	1	29	237366794	237366794	C	A	1	0	0	0	0	1	0	0	0	3490	768	27	1		1	COL6A3	2	237366794	Missense_Mutation	SNP	C	C3L-01924_TP	3559357	237366794	4826735	116	8431											
COL6A3	0	.	GRCh38	chr2	237374530	237374530	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggcgaaaggtgggaatGgccacggcaaagtccgggat	11	5	17	8	3	0	0	0	0	0	0	1	3	1	2	2	6	1	2	2	6	3	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.3561C>T	p.=	p.A1187A	ENST00000295550	8/44	357	309	48	434	434	0	strelka-varscan-mutect	COL6A3,synonymous_variant,p.=,ENST00000295550,NM_004369.3;COL6A3,synonymous_variant,p.=,ENST00000353578,NM_057167.3;COL6A3,synonymous_variant,p.=,ENST00000409809,;COL6A3,synonymous_variant,p.=,ENST00000472056,NM_057166.4;COL6A3,synonymous_variant,p.=,ENST00000347401,;COL6A3,synonymous_variant,p.=,ENST00000392004,NM_057165.4;COL6A3,synonymous_variant,p.=,ENST00000392003,NM_057164.4;COL6A3,downstream_gene_variant,,ENST00000433762,;	A	ENST00000295550	Transcript	synonymous_variant	4014/10749	3561/9534	1187/3177	A	gcC/gcT		1		-1	COL6A3	HGNC	HGNC:2213	protein_coding	YES	CCDS33412.1	ENSP00000295550	P12111	D9ZGF2	UPI0000456F39	NM_004369.3			8/44		PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	29	237374530	237374530	G	A	1	0	0	0	0	0	0	0	1	3490	1335	47	3		3	COL6A3	2	237374530	Silent	SNP	G	C3L-01924_TP	7736	237374530	4818999	117	8432											
UBE2F	0	.	GRCh38	chr2	238030597	238030597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatggcactggctgggctcCcacaagaacattaaaggtag	12	8	12	9	0	0	2	0	1	0	1	1	2	1	2	1	4	1	4	1	4	5	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.395C>T	p.Pro132Leu	p.P132L	ENST00000612130	7/10	197	184	13	239	239	0	strelka-varscan-mutect	UBE2F,missense_variant,p.Pro132Leu,ENST00000612130,NM_001278305.1;UBE2F,missense_variant,p.Pro100Leu,ENST00000414443,NM_001278307.1;UBE2F,missense_variant,p.Pro132Leu,ENST00000272930,NM_080678.2;UBE2F,missense_variant,p.Pro110Leu,ENST00000409332,;UBE2F,missense_variant,p.Pro108Leu,ENST00000409953,NM_001278306.1;UBE2F,missense_variant,p.Pro132Leu,ENST00000409633,NM_001278308.1;UBE2F,missense_variant,p.Pro132Leu,ENST00000434655,;UBE2F,missense_variant,p.Pro100Leu,ENST00000416292,;UBE2F,missense_variant,p.Pro122Leu,ENST00000434137,;UBE2F,downstream_gene_variant,,ENST00000448502,;RNU6-1333P,upstream_gene_variant,,ENST00000516162,;UBE2F-SCLY,3_prime_UTR_variant,,ENST00000449891,;UBE2F,3_prime_UTR_variant,,ENST00000454786,;UBE2F,3_prime_UTR_variant,,ENST00000441728,;UBE2F,3_prime_UTR_variant,,ENST00000417231,;UBE2F,3_prime_UTR_variant,,ENST00000439338,;UBE2F,3_prime_UTR_variant,,ENST00000445676,;UBE2F,3_prime_UTR_variant,,ENST00000440223,;UBE2F,3_prime_UTR_variant,,ENST00000455999,;UBE2F,non_coding_transcript_exon_variant,,ENST00000480828,;UBE2F,non_coding_transcript_exon_variant,,ENST00000482096,;UBE2F-SCLY,intron_variant,,ENST00000449191,;UBE2F,intron_variant,,ENST00000433241,;UBE2F,intron_variant,,ENST00000439780,;UBE2F,upstream_gene_variant,,ENST00000472479,;	T	ENST00000612130	Transcript	missense_variant	528/2135	395/558	132/185	P/L	cCc/cTc		1		1	UBE2F	HGNC	HGNC:12480	protein_coding	YES	CCDS2523.1	ENSP00000478474	Q969M7		UPI000007332C	NM_001278305.1	deleterious(0)		7/10		PROSITE_profiles:PS50127,hmmpanther:PTHR24067:SF152,hmmpanther:PTHR24067,Gene3D:3.10.110.10,Pfam_domain:PF00179,SMART_domains:SM00212,Superfamily_domains:SSF54495																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	29	238030597	238030597	C	T	1	0	0	0	0	1	0	0	0	17376	623	22	3		3	UBE2F	2	238030597	Missense_Mutation	SNP	C	C3L-01924_TP	656067	238030597	4162932	118	8433											
KIF1A	0	.	GRCh38	chr2	240757379	240757379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccggccgtcgcacagcGcgtgctccggaaagacgtcg	6	5	15	15	8	0	1	0	0	0	1	4	2	2	2	3	3	2	2	3	3	1	0	rs760841799		C3L-01924_TP	C3L-01924_NB	G	G																c.2798C>A	p.Ala933Glu	p.A933E	ENST00000498729	27/49	194	137	57	194	194	0	strelka-varscan-mutect	KIF1A,missense_variant,p.Ala933Glu,ENST00000498729,NM_001244008.1;KIF1A,missense_variant,p.Ala933Glu,ENST00000404283,;KIF1A,intron_variant,,ENST00000320389,NM_004321.6;	T	ENST00000498729	Transcript	missense_variant	3045/9223	2798/5376	933/1791	A/E	gCg/gAg	rs760841799	1		-1	KIF1A	HGNC	HGNC:888	protein_coding	YES	CCDS58757.1	ENSP00000438388	Q12756		UPI0002065B81	NM_001244008.1	tolerated(0.69)		27/49		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF361																	MODERATE	1	SNV	1			1										PASS		rs760841799	.												T	3	4	29	240757379	240757379	G	T	1	0	0	0	0	1	0	0	0	8147	1087	38	1		1	KIF1A	2	240757379	Missense_Mutation	SNP	G	C3L-01924_TP	2726782	240757379	1436150	119	8434											
CROCC2	0	.	GRCh38	chr2	240932821	240932821	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccccccatcaaggggcgtcCccaccacacatctgctcccc	7	6	6	22	1	2	0	1	0	1	0	5	0	5	0	8	2	1	1	8	2	1	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1164C>A	p.=	p.S388S	ENST00000443866	9/32	63	53	10	87	87	0	strelka-varscan-mutect	CROCC2,synonymous_variant,p.=,ENST00000443866,;CROCC2,non_coding_transcript_exon_variant,,ENST00000477311,;	A	ENST00000443866	Transcript	synonymous_variant	1348/5382	1164/4968	388/1655	S	tcC/tcA		1		1	CROCC2	HGNC	HGNC:51677	protein_coding	YES		ENSP00000397968	H7BZ55		UPI0004F2364A				9/32		hmmpanther:PTHR23159:SF16,hmmpanther:PTHR23159																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	29	240932821	240932821	C	A	1	0	0	0	0	0	0	0	1	3695	610	22	2		2	CROCC2	2	240932821	Silent	SNP	C	C3L-01924_TP	175442	240932821	1260708	120	8435											
GRM7	0	.	GRCh38	chr3	7298797	7298797	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaactccagggccgtcGtgatttttgccaacgatgag	8	9	10	14	3	0	2	0	2	0	0	2	3	1	2	5	1	3	0	5	1	2	2	rs772917243		C3L-01924_TP	C3L-01924_NB	G	G																c.850G>C	p.Val284Leu	p.V284L	ENST00000357716	3/10	310	283	27	363	363	0	strelka-varscan-mutect	GRM7,missense_variant,p.Val284Leu,ENST00000486284,NM_181874.2;GRM7,missense_variant,p.Val284Leu,ENST00000357716,NM_000844.3;GRM7,missense_variant,p.Val284Leu,ENST00000389336,;GRM7,missense_variant,p.Val39Leu,ENST00000402647,;GRM7,missense_variant,p.Val76Leu,ENST00000448328,;GRM7,missense_variant,p.Val284Leu,ENST00000467425,;GRM7,missense_variant,p.Val284Leu,ENST00000440923,;GRM7,missense_variant,p.Val284Leu,ENST00000389335,;GRM7,3_prime_UTR_variant,,ENST00000435689,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;GRM7,non_coding_transcript_exon_variant,,ENST00000461677,;	C	ENST00000357716	Transcript	missense_variant	1124/4127	850/2748	284/915	V/L	Gtg/Ctg	rs772917243,COSM4326991,COSM4326992,COSM4326993	1		1	GRM7	HGNC	HGNC:4599	protein_coding	YES	CCDS43042.1	ENSP00000350348	Q14831		UPI000004A7E3	NM_000844.3	deleterious(0.02)		3/10		hmmpanther:PTHR24060:SF98,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs772917243	.												C	3	2	29	7298797	7298797	G	C	1	0	0	0	0	1	0	0	0	6684	1145	40	4		4	GRM7	3	7298797	Missense_Mutation	SNP	G	C3L-01924_TP		7298797	190996762	121	8436											
HRH1	0	.	GRCh38	chr3	11259762	11259762	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaattaagctgaggccagAgaaccccaagggggatgcca	15	4	13	9	0	0	3	0	1	0	2	0	5	0	4	4	3	3	1	4	3	4	1	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.725A>G	p.Glu242Gly	p.E242G	ENST00000397056	3/3	200	150	50	271	270	1	strelka-varscan-mutect	HRH1,missense_variant,p.Glu242Gly,ENST00000397056,NM_000861.3;HRH1,missense_variant,p.Glu242Gly,ENST00000431010,NM_001098212.1,NM_001098211.1;HRH1,missense_variant,p.Glu242Gly,ENST00000438284,NM_001098213.1;HRH1,downstream_gene_variant,,ENST00000413416,;	G	ENST00000397056	Transcript	missense_variant	916/4711	725/1464	242/487	E/G	gAg/gGg		1		1	HRH1	HGNC	HGNC:5182	protein_coding	YES	CCDS2604.1	ENSP00000380247	P35367		UPI0000050401	NM_000861.3	tolerated(0.12)		3/3		Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF239,SMART_domains:SM01381																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	11259762	11259762	A	G	1	0	0	0	0	1	0	0	0	7250	304	11	5		5	HRH1	3	11259762	Missense_Mutation	SNP	A	C3L-01924_TP	3960965	11259762	187035797	122	8437											
EFHB	0	.	GRCh38	chr3	19896740	19896740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaacttttggtaattaaCtttcttcaggtgatgccgaa	11	15	8	7	1	3	1	2	1	1	0	3	2	3	1	1	2	3	1	1	2	4	6	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1672G>T	p.Val558Phe	p.V558F	ENST00000295824	9/13	296	266	30	405	405	0	strelka-varscan-mutect	EFHB,missense_variant,p.Val558Phe,ENST00000295824,NM_144715.3;EFHB,missense_variant,p.Val428Phe,ENST00000344838,;EFHB,downstream_gene_variant,,ENST00000440022,;EFHB,non_coding_transcript_exon_variant,,ENST00000498089,;EFHB,non_coding_transcript_exon_variant,,ENST00000467602,;EFHB,missense_variant,p.Val558Phe,ENST00000389256,;	A	ENST00000295824	Transcript	missense_variant	1834/2823	1672/2502	558/833	V/F	Gtt/Ttt		1		-1	EFHB	HGNC	HGNC:26330	protein_coding	YES	CCDS33715.2	ENSP00000295824	Q8N7U6		UPI0000209A4C	NM_144715.3	tolerated(0.64)		9/13		hmmpanther:PTHR12086:SF12,hmmpanther:PTHR12086,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	19896740	19896740	C	A	1	0	0	0	0	1	0	0	0	4780	565	20	2		2	EFHB	3	19896740	Missense_Mutation	SNP	C	C3L-01924_TP	8636978	19896740	178398819	123	8438											
KAT2B	0	.	GRCh38	chr3	20114985	20114985	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagccagctaggcatccaaAcaggtaagtttccttttaca	12	10	7	12	0	0	0	0	0	0	0	2	0	2	0	4	2	4	4	4	2	4	5	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.1147A>G	p.Thr383Ala	p.T383A	ENST00000263754	7/18	116	98	18	139	139	0	strelka-varscan-mutect	KAT2B,missense_variant,p.Thr383Ala,ENST00000263754,NM_003884.4;KAT2B,non_coding_transcript_exon_variant,,ENST00000469085,;	G	ENST00000263754	Transcript	missense_variant	1602/4833	1147/2499	383/832	T/A	Aca/Gca		1		1	KAT2B	HGNC	HGNC:8638	protein_coding	YES	CCDS2634.1	ENSP00000263754	Q92831		UPI00002132DE	NM_003884.4	tolerated(0.66)		7/18		PIRSF_domain:PIRSF003048,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF116																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	20114985	20114985	A	G	1	0	0	0	0	1	0	0	0	7896	57	2	5		5	KAT2B	3	20114985	Missense_Mutation	SNP	A	C3L-01924_TP	218245	20114985	178180574	124	8439											
CLEC3B	0	.	GRCh38	chr3	45035861	45035861	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaggcgcggccaacggCaagtggttcgacaagcgctg	8	6	15	12	5	1	0	1	0	0	0	2	1	1	0	1	4	2	3	1	4	3	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.546C>T	p.=	p.G182G	ENST00000296130	3/3	111	105	6	147	147	0	strelka-mutect	CLEC3B,synonymous_variant,p.=,ENST00000296130,NM_003278.2;CLEC3B,synonymous_variant,p.=,ENST00000428034,NM_001308394.1;RNU5B-3P,upstream_gene_variant,,ENST00000516601,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000481405,;CLEC3B,non_coding_transcript_exon_variant,,ENST00000490386,;	T	ENST00000296130	Transcript	synonymous_variant	726/936	546/609	182/202	G	ggC/ggT		1		1	CLEC3B	HGNC	HGNC:11891	protein_coding	YES	CCDS2726.1	ENSP00000296130	P05452	A0A024R2Q7	UPI000013E305	NM_003278.2			3/3		PROSITE_profiles:PS50041,hmmpanther:PTHR22799,PROSITE_patterns:PS00615,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	45035861	45035861	C	T	1	0	0	0	0	0	0	0	1	3279	697	25	3		3	CLEC3B	3	45035861	Silent	SNP	C	C3L-01924_TP	24920876	45035861	153259698	125	8440											
LAMB2	0	.	GRCh38	chr3	49131390	49131390	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcactcactctgaatccgtGagctgtaggggtctgggata	9	10	13	9	1	3	2	1	2	2	0	4	3	4	3	1	3	2	3	1	3	3	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.701C>G	p.Ser234Ter	p.S234*	ENST00000418109	7/33	254	226	28	332	332	0	strelka-varscan-mutect	LAMB2,stop_gained,p.Ser234Ter,ENST00000418109,NM_002292.3;LAMB2,stop_gained,p.Ser234Ter,ENST00000305544,;LAMB2,stop_gained,p.Ser85Ter,ENST00000494831,;LAMB2,upstream_gene_variant,,ENST00000486298,;LAMB2,upstream_gene_variant,,ENST00000493571,;LAMB2,upstream_gene_variant,,ENST00000483321,;LAMB2,upstream_gene_variant,,ENST00000488638,;	C	ENST00000418109	Transcript	stop_gained	866/5674	701/5397	234/1798	S/*	tCa/tGa		1		-1	LAMB2	HGNC	HGNC:6487	protein_coding	YES	CCDS2789.1	ENSP00000388325	P55268	A0A024R319	UPI000013EA62	NM_002292.3			7/33		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF36,SMART_domains:SM00136																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	29	49131390	49131390	G	C	1	0	0	0	0	0	1	0	0	8515	1294	45	4		4	LAMB2	3	49131390	Nonsense_Mutation	SNP	G	C3L-01924_TP	4095529	49131390	149164169	126	8441											
AMIGO3	0	.	GRCh38	chr3	49718518	49718518	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcgccctgagaagctcCtgctgcggcgaaacccaggc	7	5	13	16	3	0	1	0	1	0	1	1	3	1	1	4	3	4	2	4	3	2	0			C3L-01924_TP	C3L-01924_NB	C	C																c.948G>C	p.Gln316His	p.Q316H	ENST00000320431	1/1	426	357	69	406	406	0	strelka-varscan-mutect	AMIGO3,missense_variant,p.Gln316His,ENST00000320431,NM_198722.2;GMPPB,3_prime_UTR_variant,,ENST00000480687,;RNF123,intron_variant,,ENST00000327697,NM_022064.3;RNF123,intron_variant,,ENST00000433785,;GMPPB,downstream_gene_variant,,ENST00000308375,NM_013334.3;GMPPB,downstream_gene_variant,,ENST00000308388,NM_021971.2;RNF123,non_coding_transcript_exon_variant,,ENST00000497099,;RNF123,intron_variant,,ENST00000487805,;RNF123,intron_variant,,ENST00000486102,;RNF123,intron_variant,,ENST00000457726,;GMPPB,downstream_gene_variant,,ENST00000481959,;RNF123,downstream_gene_variant,,ENST00000469978,;RNF123,upstream_gene_variant,,ENST00000498376,;GMPPB,downstream_gene_variant,,ENST00000495627,;RNF123,downstream_gene_variant,,ENST00000444689,;	G	ENST00000320431	Transcript	missense_variant	1178/2862	948/1515	316/504	Q/H	caG/caC	COSM1182678	1		-1	AMIGO3	HGNC	HGNC:24075	protein_coding	YES	CCDS33759.1	ENSP00000323096	Q86WK7		UPI00000622D6	NM_198722.2	tolerated(1)		1/1		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR24368,hmmpanther:PTHR24368:SF62,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE		SNV			1	1										PASS		.	.												G	3	3	29	49718518	49718518	C	G	1	0	0	0	0	1	0	0	0	675	680	24	4		4	AMIGO3	3	49718518	Missense_Mutation	SNP	C	C3L-01924_TP	587128	49718518	148577041	127	8442											
CAMKV	0	.	GRCh38	chr3	49861450	49861450	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctcaccttgagattccTgtgcacgatcttgagtgagt	7	13	10	11	1	2	3	1	3	1	1	3	5	3	3	3	0	2	1	3	0	0	3	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.430A>T	p.Arg144Trp	p.R144W	ENST00000477224	5/11	131	113	18	173	173	0	strelka-varscan-mutect	CAMKV,splice_acceptor_variant,,ENST00000466940,;CAMKV,missense_variant,p.Arg144Trp,ENST00000477224,NM_024046.3;CAMKV,missense_variant,p.Arg144Trp,ENST00000296471,;CAMKV,missense_variant,p.Arg144Trp,ENST00000488336,;CAMKV,missense_variant,p.Arg144Trp,ENST00000463537,;CAMKV,missense_variant,p.Arg69Trp,ENST00000467248,;CAMKV,missense_variant,p.Arg144Trp,ENST00000620470,;CAMKV,missense_variant,p.Arg57Trp,ENST00000480398,;TRAIP,upstream_gene_variant,,ENST00000331456,NM_005879.2;TRAIP,upstream_gene_variant,,ENST00000469027,;TRAIP,upstream_gene_variant,,ENST00000482582,;TRAIP,upstream_gene_variant,,ENST00000482243,;RN7SL217P,downstream_gene_variant,,ENST00000584520,;CAMKV,downstream_gene_variant,,ENST00000498324,;TRAIP,upstream_gene_variant,,ENST00000473863,;CAMKV,synonymous_variant,p.=,ENST00000466535,;CAMKV,3_prime_UTR_variant,,ENST00000487726,;CAMKV,non_coding_transcript_exon_variant,,ENST00000475665,;CAMKV,non_coding_transcript_exon_variant,,ENST00000483811,;CAMKV,non_coding_transcript_exon_variant,,ENST00000472895,;CAMKV,non_coding_transcript_exon_variant,,ENST00000479704,;TRAIP,upstream_gene_variant,,ENST00000477546,;TRAIP,upstream_gene_variant,,ENST00000473195,;CAMKV,upstream_gene_variant,,ENST00000478149,;CAMKV,downstream_gene_variant,,ENST00000476105,;TRAIP,upstream_gene_variant,,ENST00000489948,;	A	ENST00000477224	Transcript	missense_variant	909/3314	430/1506	144/501	R/W	Agg/Tgg		1		-1	CAMKV	HGNC	HGNC:28788	protein_coding	YES	CCDS33762.1	ENSP00000419195	Q8NCB2	A0A140VKD5	UPI000004184F	NM_024046.3	deleterious(0)		5/11		PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF18,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	49861450	49861450	T	A	1	0	0	0	0	1	0	0	0	2300	1594	55	4		4	CAMKV	3	49861450	Missense_Mutation	SNP	T	C3L-01924_TP	142932	49861450	148434109	128	8443											
FAM107A	0	.	GRCh38	chr3	58567279	58567279	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccgcttggcttccagctCctccttcttcttcttgatga	4	15	7	15	1	3	2	0	2	3	0	6	2	6	2	4	1	2	3	4	1	0	6	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.349G>T	p.Glu117Ter	p.E117*	ENST00000474531	4/5	337	287	50	351	350	1	strelka-varscan-mutect	FAM107A,stop_gained,p.Glu86Ter,ENST00000394481,NM_007177.3;FAM107A,stop_gained,p.Glu86Ter,ENST00000360997,NM_001076778.2;FAM107A,stop_gained,p.Glu117Ter,ENST00000474531,NM_001282714.1;FAM107A,stop_gained,p.Glu86Ter,ENST00000464064,;FAM107A,stop_gained,p.Glu114Ter,ENST00000447756,NM_001282713.1;FAM107A,stop_gained,p.Glu86Ter,ENST00000465970,;	A	ENST00000474531	Transcript	stop_gained	965/2271	349/528	117/175	E/*	Gag/Tag		1		-1	FAM107A	HGNC	HGNC:30827	protein_coding	YES	CCDS63673.1	ENSP00000419124	O95990	A0A024R327	UPI000020AE2A	NM_001282714.1			4/5		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06625,hmmpanther:PTHR16768,hmmpanther:PTHR16768:SF3,Low_complexity_(Seg):seg																	HIGH	1	SNV	2			1										PASS		rs1176317305	.												A	4	1	29	58567279	58567279	C	A	1	0	0	0	0	0	1	0	0	5257	864	30	2		2	FAM107A	3	58567279	Nonsense_Mutation	SNP	C	C3L-01924_TP	8705829	58567279	139728280	129	8444											
EOGT	0	.	GRCh38	chr3	68978415	68978415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccaagtctaagtaacagCgttcatcttcacagttgtac	11	12	8	10	1	4	0	2	0	2	0	4	0	4	0	1	1	3	4	1	1	4	6	rs193201126		C3L-01924_TP	C3L-01924_NB	C	C																c.1355G>A	p.Arg452His	p.R452H	ENST00000383701	17/18	115	95	20	168	168	0	strelka-varscan-mutect	EOGT,missense_variant,p.Arg452His,ENST00000383701,NM_001278689.1;EOGT,missense_variant,p.Arg368His,ENST00000295571,NM_173654.2;EOGT,missense_variant,p.Arg452His,ENST00000540764,;EOGT,missense_variant,p.Arg368His,ENST00000540955,;EOGT,upstream_gene_variant,,ENST00000615922,;EOGT,3_prime_UTR_variant,,ENST00000403140,;EOGT,non_coding_transcript_exon_variant,,ENST00000496647,;EOGT,downstream_gene_variant,,ENST00000480846,;	T	ENST00000383701	Transcript	missense_variant	2098/4731	1355/1584	452/527	R/H	cGc/cAc	rs193201126,COSM4119963,COSM4119964	1		-1	EOGT	HGNC	HGNC:28526	protein_coding	YES	CCDS63684.1	ENSP00000373206	Q5NDL2		UPI00004982AF	NM_001278689.1	tolerated(0.24)		17/18		Pfam_domain:PF04577,hmmpanther:PTHR20961,hmmpanther:PTHR20961:SF0											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs193201126	.												T	3	4	29	68978415	68978415	C	T	1	0	0	0	0	1	0	0	0	4992	768	27	1		1	EOGT	3	68978415	Missense_Mutation	SNP	C	C3L-01924_TP	10411136	68978415	129317144	130	8445											
EPHA3	0	.	GRCh38	chr3	89210264	89210264	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttggcatttcaagatgtTggtgcttgtgttgccttggt	5	19	12	5	0	1	1	1	0	0	1	1	1	1	1	1	3	2	4	1	3	2	7	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.558T>G	p.=	p.V186V	ENST00000336596	3/17	186	169	17	231	231	0	strelka-varscan-mutect	EPHA3,synonymous_variant,p.=,ENST00000336596,NM_005233.5;EPHA3,synonymous_variant,p.=,ENST00000494014,;EPHA3,synonymous_variant,p.=,ENST00000452448,NM_182644.2;	G	ENST00000336596	Transcript	synonymous_variant	783/5809	558/2952	186/983	V	gtT/gtG		1		1	EPHA3	HGNC	HGNC:3387	protein_coding	YES	CCDS2922.1	ENSP00000337451	P29320	A0A140VJJ0	UPI0000163BE4	NM_005233.5			3/17		PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PROSITE_patterns:PS00790,PIRSF_domain:PIRSF000666,Pfam_domain:PF01404,Gene3D:2.60.120.260,SMART_domains:SM00615,Superfamily_domains:SSF49785																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	29	89210264	89210264	T	G	1	0	0	0	0	0	0	0	1	5015	1799	63	5		5	EPHA3	3	89210264	Silent	SNP	T	C3L-01924_TP	20231849	89210264	109085295	131	8446											
ZPLD1	0	.	GRCh38	chr3	102462342	102462342	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attacctttgaaaaccaaagTatttgcagctgtccaagcca	14	11	6	10	0	0	1	0	1	0	0	1	1	1	1	4	0	5	3	4	0	6	4	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.692T>A	p.Val231Glu	p.V231E	ENST00000306176	6/11	136	121	15	146	146	0	strelka-varscan-mutect	ZPLD1,missense_variant,p.Val231Glu,ENST00000306176,NM_175056.1;ZPLD1,missense_variant,p.Val215Glu,ENST00000491959,;ZPLD1,missense_variant,p.Val215Glu,ENST00000466937,;	A	ENST00000306176	Transcript	missense_variant	792/3619	692/1296	231/431	V/E	gTa/gAa		1		1	ZPLD1	HGNC	HGNC:27022	protein_coding	YES	CCDS2947.1	ENSP00000307801	Q8TCW7		UPI000006EC89	NM_175056.1	deleterious(0)		6/11		PROSITE_profiles:PS51034,hmmpanther:PTHR24044:SF333,hmmpanther:PTHR24044,Pfam_domain:PF00100,SMART_domains:SM00241																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	102462342	102462342	T	A	1	0	0	0	0	1	0	0	0	18813	1638	57	4		4	ZPLD1	3	102462342	Missense_Mutation	SNP	T	C3L-01924_TP	13252078	102462342	95833217	132	8447											
SLC15A2	0	.	GRCh38	chr3	121931645	121931645	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctgttccagatacccTgcagtgcactgtagaacaga	11	10	8	12	0	1	3	1	0	0	3	3	3	3	3	3	0	4	4	3	0	3	3	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1671T>C	p.=	p.P557P	ENST00000489711	19/22	141	129	12	169	169	0	strelka-varscan-mutect	SLC15A2,synonymous_variant,p.=,ENST00000489711,NM_021082.3;SLC15A2,synonymous_variant,p.=,ENST00000295605,NM_001145998.1;SLC15A2,downstream_gene_variant,,ENST00000465060,;SLC15A2,downstream_gene_variant,,ENST00000489957,;	C	ENST00000489711	Transcript	synonymous_variant	2059/5673	1671/2190	557/729	P	ccT/ccC		1		1	SLC15A2	HGNC	HGNC:10921	protein_coding	YES	CCDS3007.1	ENSP00000417085	Q16348		UPI000013E27D	NM_021082.3			19/22		TIGRFAM_domain:TIGR00926																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	29	121931645	121931645	T	C	1	0	0	0	0	0	0	0	1	14664	1567	55	5		5	SLC15A2	3	121931645	Silent	SNP	T	C3L-01924_TP	19469303	121931645	76363914	133	8448											
CASR	0	.	GRCh38	chr3	122261648	122261648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacatcatcgagtatttcCgctggaactgggtgggcaca	10	9	12	10	2	1	1	1	0	0	1	3	3	2	2	1	3	1	3	1	3	2	2	rs775751453		C3L-01924_TP	C3L-01924_NB	C	C																c.613C>T	p.Arg205Cys	p.R205C	ENST00000498619	4/7	328	283	45	415	415	0	strelka-varscan-mutect	CASR,missense_variant,p.Arg205Cys,ENST00000498619,NM_001178065.1;CASR,missense_variant,p.Arg205Cys,ENST00000490131,NM_000388.3;	T	ENST00000498619	Transcript	missense_variant	1051/5011	613/3267	205/1088	R/C	Cgc/Tgc	rs775751453,CM123746,COSM1037084	1		1	CASR	HGNC	HGNC:1514	protein_coding	YES	CCDS54632.1	ENSP00000420194		E7ENE0	UPI000020A065	NM_001178065.1	deleterious(0)		4/7		Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358,Superfamily_domains:SSF53822											0,0,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs775751453	.												T	3	4	29	122261648	122261648	C	T	1	0	0	0	0	1	0	0	0	2381	652	23	1		1	CASR	3	122261648	Missense_Mutation	SNP	C	C3L-01924_TP	330003	122261648	76033911	134	8449											
MYLK	0	.	GRCh38	chr3	123707958	123707958	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagggaggctgtcactGagcgaggcttactgatgaac	9	7	15	10	1	1	3	1	3	0	0	1	5	1	4	1	4	3	2	1	4	2	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2186C>A	p.Ser729Ter	p.S729*	ENST00000360304	15/33	303	261	42	335	334	1	strelka-varscan-mutect	MYLK,stop_gained,p.Ser729Ter,ENST00000360772,;MYLK,stop_gained,p.Ser729Ter,ENST00000360304,NM_001321309.1,NM_053025.3;MYLK,stop_gained,p.Ser729Ter,ENST00000359169,NM_053027.3;MYLK,stop_gained,p.Ser660Ter,ENST00000354792,;MYLK,stop_gained,p.Ser660Ter,ENST00000346322,NM_053028.3,NM_053026.3;MYLK,stop_gained,p.Ser729Ter,ENST00000475616,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,downstream_gene_variant,,ENST00000514623,;	T	ENST00000360304	Transcript	stop_gained	2372/7738	2186/5745	729/1914	S/*	tCa/tAa		1		-1	MYLK	HGNC	HGNC:7590	protein_coding	YES	CCDS46896.1	ENSP00000353452	Q15746		UPI000020A0AE	NM_001321309.1,NM_053025.3			15/33		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF700,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	29	123707958	123707958	G	T	1	0	0	0	0	0	1	0	0	10056	1294	45	2		2	MYLK	3	123707958	Nonsense_Mutation	SNP	G	C3L-01924_TP	1446310	123707958	74587601	135	8450											
EEFSEC	0	.	GRCh38	chr3	128153790	128153790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacgctggtcgactgccccGggcacgcctccctcatccgg	4	7	11	19	5	2	0	2	0	0	0	5	1	4	0	5	3	1	2	5	3	0	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.283G>T	p.Gly95Trp	p.G95W	ENST00000254730	1/7	226	195	31	233	233	0	strelka-varscan-mutect	EEFSEC,missense_variant,p.Gly95Trp,ENST00000254730,NM_021937.4;EEFSEC,missense_variant,p.Gly95Trp,ENST00000483457,;RUVBL1,5_prime_UTR_variant,,ENST00000464873,NM_001319086.1;EEFSEC,non_coding_transcript_exon_variant,,ENST00000484438,;	T	ENST00000254730	Transcript	missense_variant	337/2232	283/1791	95/596	G/W	Ggg/Tgg		1		1	EEFSEC	HGNC	HGNC:24614	protein_coding	YES	CCDS33849.1	ENSP00000254730	P57772		UPI000013CE58	NM_021937.4	deleterious(0)		1/7		Gene3D:3.40.50.300,Pfam_domain:PF00009,Prints_domain:PR00315,PROSITE_profiles:PS51722,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF91,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	128153790	128153790	G	T	1	0	0	0	0	1	0	0	0	4762	1116	39	1		1	EEFSEC	3	128153790	Missense_Mutation	SNP	G	C3L-01924_TP	4445832	128153790	70141769	136	8451											
COL6A6	0	.	GRCh38	chr3	130649256	130649256	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctataactcccacgcCaggcaccttgtgcgcttctc	6	11	6	18	2	2	0	0	0	2	0	5	0	3	0	4	1	2	2	4	1	2	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.5427C>A	p.=	p.A1809A	ENST00000358511	32/36	145	123	22	174	174	0	strelka-varscan-mutect	COL6A6,synonymous_variant,p.=,ENST00000358511,NM_001102608.1;COL6A6,intron_variant,,ENST00000506143,;	A	ENST00000358511	Transcript	synonymous_variant	5458/9581	5427/6792	1809/2263	A	gcC/gcA		1		1	COL6A6	HGNC	HGNC:27023	protein_coding	YES	CCDS46911.1	ENSP00000351310	A6NMZ7		UPI00015B6548	NM_001102608.1			32/36		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF61,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	29	130649256	130649256	C	A	1	0	0	0	0	0	0	0	1	3492	581	21	2		2	COL6A6	3	130649256	Silent	SNP	C	C3L-01924_TP	2495466	130649256	67646303	137	8452											
CLSTN2	0	.	GRCh38	chr3	140448553	140448553	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgagtaccagcctggctcCgggagcatgcccctgttccc	6	9	11	15	1	0	1	0	1	0	0	2	2	2	2	6	2	4	4	6	2	1	3	rs143908906		C3L-01924_TP	C3L-01924_NB	C	C																c.822C>G	p.=	p.S274S	ENST00000458420	6/17	106	91	15	151	151	0	strelka-varscan-mutect	CLSTN2,synonymous_variant,p.=,ENST00000458420,NM_022131.2;RP11-68L1.2,downstream_gene_variant,,ENST00000509191,;RP11-68L1.2,downstream_gene_variant,,ENST00000502712,;RP11-68L1.2,downstream_gene_variant,,ENST00000503357,;CLSTN2,non_coding_transcript_exon_variant,,ENST00000511524,;	G	ENST00000458420	Transcript	synonymous_variant	1012/14202	822/2868	274/955	S	tcC/tcG	rs143908906	1		1	CLSTN2	HGNC	HGNC:17448	protein_coding	YES	CCDS3112.1	ENSP00000402460	Q9H4D0		UPI00001B0051	NM_022131.2			6/17		PROSITE_profiles:PS50268,hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3																	LOW	1	SNV	1			1										PASS		rs143908906	.												G	2	3	29	140448553	140448553	C	G	1	0	0	0	0	0	0	0	1	3334	639	23	4		4	CLSTN2	3	140448553	Silent	SNP	C	C3L-01924_TP	9799297	140448553	57847006	138	8453											
XRN1	0	.	GRCh38	chr3	142370606	142370606	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagccaagtaataatttctTgaactttttcagcactaaag	14	15	5	7	0	2	1	1	1	1	0	2	1	2	1	1	0	3	2	1	0	7	8	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.3083A>T	p.Gln1028Leu	p.Q1028L	ENST00000264951	27/42	102	87	15	138	138	0	strelka-varscan-mutect	XRN1,missense_variant,p.Gln1028Leu,ENST00000264951,NM_019001.4;XRN1,missense_variant,p.Gln494Leu,ENST00000498077,;XRN1,missense_variant,p.Gln1028Leu,ENST00000392981,NM_001282857.1;XRN1,non_coding_transcript_exon_variant,,ENST00000472625,;XRN1,upstream_gene_variant,,ENST00000467077,;	A	ENST00000264951	Transcript	missense_variant	3201/10143	3083/5121	1028/1706	Q/L	cAa/cTa		1		-1	XRN1	HGNC	HGNC:30654	protein_coding	YES	CCDS3123.1	ENSP00000264951	Q8IZH2		UPI0000074113	NM_019001.4	tolerated(0.14)		27/42		hmmpanther:PTHR12341:SF7,hmmpanther:PTHR12341																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	142370606	142370606	T	A	1	0	0	0	0	1	0	0	0	18017	1812	63	4		4	XRN1	3	142370606	Missense_Mutation	SNP	T	C3L-01924_TP	1922053	142370606	55924953	139	8454											
ERICH6	0	.	GRCh38	chr3	150703738	150703738	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactcctcctccaccaccTcctcctcctcctcctccacc	5	9	0	27	0	0	0	0	0	0	0	9	0	9	0	13	0	1	0	13	0	1	0	rs753770853		C3L-01924_TP	C3L-01924_NB	T	T																c.161A>T	p.Glu54Val	p.E54V	ENST00000295910	1/14	84	79	5	129	128	1	varscan-mutect	ERICH6,missense_variant,p.Glu54Val,ENST00000295910,NM_152394.4;ERICH6,missense_variant,p.Glu54Val,ENST00000474463,;ERICH6,intron_variant,,ENST00000491361,NM_001308234.1;ERICH6,intron_variant,,ENST00000498386,;ERICH6-AS1,intron_variant,,ENST00000471093,;ERICH6-AS1,upstream_gene_variant,,ENST00000475393,;ERICH6-AS1,upstream_gene_variant,,ENST00000463755,;	A	ENST00000295910	Transcript	missense_variant	214/2052	161/1992	54/663	E/V	gAg/gTg	rs753770853,COSM1039883	1		-1	ERICH6	HGNC	HGNC:28602	protein_coding	YES	CCDS3151.2	ENSP00000295910	Q7L0X2		UPI000023281A	NM_152394.4	deleterious_low_confidence(0)		1/14		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23093,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs753770853	.												A	3	1	29	150703738	150703738	T	A	1	0	0	0	0	1	0	0	0	5086	1551	54	4		4	ERICH6	3	150703738	Missense_Mutation	SNP	T	C3L-01924_TP	8333132	150703738	47591821	140	8455											
P2RY13	0	.	GRCh38	chr3	151328525	151328525	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgctcaagatcgtattTggcagggagatgaagaacaa	13	11	12	5	1	1	4	1	1	0	3	2	5	1	4	0	2	2	4	0	2	5	4	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.531A>T	p.=	p.P177P	ENST00000325602	2/2	316	289	27	413	412	1	strelka-varscan-mutect	P2RY13,synonymous_variant,p.=,ENST00000325602,NM_176894.2;MED12L,intron_variant,,ENST00000474524,NM_053002.5;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000491549,;MED12L,intron_variant,,ENST00000468305,;	A	ENST00000325602	Transcript	synonymous_variant	551/2764	531/1065	177/354	P	ccA/ccT		1		-1	P2RY13	HGNC	HGNC:4537	protein_coding	YES	CCDS3158.2	ENSP00000320376	Q9BPV8		UPI000020A470	NM_176894.2			2/2		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF10,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	29	151328525	151328525	T	A	1	0	0	0	0	0	0	0	1	11423	1799	63	4		4	P2RY13	3	151328525	Silent	SNP	T	C3L-01924_TP	624787	151328525	46967034	141	8456											
SLITRK3	0	.	GRCh38	chr3	165188355	165188355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcactatggtgttaagctGggagctggacactgctaggg	8	10	15	8	1	1	0	1	0	0	0	1	2	1	2	0	4	3	4	0	4	3	3			C3L-01924_TP	C3L-01924_NB	G	G																c.2476C>A	p.Gln826Lys	p.Q826K	ENST00000475390	2/2	204	170	34	251	251	0	strelka-varscan-mutect	SLITRK3,missense_variant,p.Gln826Lys,ENST00000475390,NM_001318811.1,NM_001318810.1;SLITRK3,missense_variant,p.Gln826Lys,ENST00000241274,NM_014926.2;SLITRK3,downstream_gene_variant,,ENST00000497724,;	T	ENST00000475390	Transcript	missense_variant	2920/4555	2476/2934	826/977	Q/K	Cag/Aag	COSM3589617	1		-1	SLITRK3	HGNC	HGNC:23501	protein_coding	YES	CCDS3197.1	ENSP00000420091	O94933		UPI000004F259	NM_001318811.1,NM_001318810.1	tolerated(1)		2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF14											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	29	165188355	165188355	G	T	1	0	0	0	0	1	0	0	0	15035	1357	47	2		2	SLITRK3	3	165188355	Missense_Mutation	SNP	G	C3L-01924_TP	13859830	165188355	33107204	142	8457											
ZBBX	0	.	GRCh38	chr3	167333828	167333828	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatattttcctcagtttaccTcagagctgctcctctggaga	8	15	7	11	0	3	2	2	0	1	2	5	3	5	2	3	1	3	3	3	1	3	6	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.686A>T	p.Glu229Val	p.E229V	ENST00000455345	9/21	58	45	13	83	83	0	strelka-varscan-mutect	ZBBX,missense_variant,p.Glu229Val,ENST00000392766,NM_024687.3;ZBBX,missense_variant,p.Glu229Val,ENST00000455345,NM_001199201.1;ZBBX,missense_variant,p.Glu229Val,ENST00000307529,;ZBBX,missense_variant,p.Glu200Val,ENST00000392767,;ZBBX,missense_variant,p.Glu200Val,ENST00000392764,NM_001199202.1;ZBBX,intron_variant,,ENST00000469220,;	A	ENST00000455345	Transcript	missense_variant,splice_region_variant	970/3185	686/2520	229/839	E/V	gAg/gTg		1		-1	ZBBX	HGNC	HGNC:26245	protein_coding	YES	CCDS56296.1	ENSP00000390232	A8MT70		UPI000020A746	NM_001199201.1	deleterious(0.01)		9/21		hmmpanther:PTHR28634																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	167333828	167333828	T	A	1	0	0	0	0	1	0	0	0	18078	1565	54	4		4	ZBBX	3	167333828	Missense_Mutation	SNP	T	C3L-01924_TP	2145473	167333828	30961731	143	8458											
LRRC31	0	.	GRCh38	chr3	169860730	169860730	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaaaggcagcaaggcaacTagaagtgaacagaagaaaat	22	3	11	5	0	0	5	0	1	0	4	0	5	0	5	0	2	3	3	0	2	10	1	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.320-2A>T		p.X107_splice	ENST00000316428		111	102	9	184	184	0	strelka-varscan-mutect	LRRC31,splice_acceptor_variant,,ENST00000316428,NM_024727.3;LRRC31,splice_acceptor_variant,,ENST00000523069,NM_001277127.1;LRRC31,intron_variant,,ENST00000264676,NM_001277128.1;LRRC31,splice_acceptor_variant,,ENST00000397805,;	A	ENST00000316428	Transcript	splice_acceptor_variant	-/2520	320/1659	107/552				1		-1	LRRC31	HGNC	HGNC:26261	protein_coding	YES	CCDS43167.1	ENSP00000325978	Q6UY01		UPI00001D690F	NM_024727.3				2/8																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	29	169860730	169860730	T	A	1	0	0	0	0	0	0	1	0	8881	1536	53	4		4	LRRC31	3	169860730	Splice_Site	SNP	T	C3L-01924_TP	2526902	169860730	28434829	144	8459											
ECT2	0	.	GRCh38	chr3	172807831	172807831	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcaggcaaatgtgctactCagtttccagatgacatcaga	13	9	10	9	0	2	3	2	1	0	2	3	4	3	3	1	1	3	4	1	1	2	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2307C>T	p.=	p.L769L	ENST00000392692	22/25	131	121	10	170	170	0	strelka-mutect	ECT2,synonymous_variant,p.=,ENST00000540509,NM_001258316.1;ECT2,synonymous_variant,p.=,ENST00000417960,;ECT2,synonymous_variant,p.=,ENST00000392692,NM_001258315.1;ECT2,synonymous_variant,p.=,ENST00000232458,NM_018098.5;ECT2,synonymous_variant,p.=,ENST00000441497,;ECT2,synonymous_variant,p.=,ENST00000437296,;ECT2,non_coding_transcript_exon_variant,,ENST00000486027,;ECT2,downstream_gene_variant,,ENST00000460860,;	T	ENST00000392692	Transcript	synonymous_variant	2483/4158	2307/2745	769/914	L	ctC/ctT		1		1	ECT2	HGNC	HGNC:3155	protein_coding	YES	CCDS58860.1	ENSP00000376457	Q9H8V3		UPI00003DFD0A	NM_001258315.1			22/25		Gene3D:2.30.29.30,hmmpanther:PTHR16777,hmmpanther:PTHR16777:SF2,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		rs1363886717	.												T	2	4	29	172807831	172807831	C	T	1	0	0	0	0	0	0	0	1	4729	813	29	3		3	ECT2	3	172807831	Silent	SNP	C	C3L-01924_TP	2947101	172807831	25487728	145	8460											
USP13	0	.	GRCh38	chr3	179708874	179708874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttctttgacagctctggggGcaacgggcatgcgctggagc	6	9	16	10	2	2	1	0	1	2	0	2	2	2	2	0	4	4	5	0	4	1	2	rs773037853		C3L-01924_TP	C3L-01924_NB	G	G																c.722G>T	p.Gly241Val	p.G241V	ENST00000263966	6/21	189	175	14	200	200	0	strelka-varscan-mutect	USP13,missense_variant,p.Gly241Val,ENST00000263966,NM_003940.2;USP13,missense_variant,p.Gly176Val,ENST00000496897,;USP13,non_coding_transcript_exon_variant,,ENST00000482333,;USP13,downstream_gene_variant,,ENST00000497380,;	T	ENST00000263966	Transcript	missense_variant	1193/8323	722/2592	241/863	G/V	gGc/gTc	rs773037853	1		1	USP13	HGNC	HGNC:12611	protein_coding	YES	CCDS3235.1	ENSP00000263966	Q92995	A0A0A6YZ17	UPI000006DC10	NM_003940.2	deleterious(0)		6/21		PROSITE_profiles:PS50271,Gene3D:3.30.40.10,PIRSF_domain:PIRSF016308,Pfam_domain:PF02148,SMART_domains:SM00290,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		rs773037853	.												T	3	4	29	179708874	179708874	G	T	1	0	0	0	0	1	0	0	0	17578	1203	42	2		2	USP13	3	179708874	Missense_Mutation	SNP	G	C3L-01924_TP	6901043	179708874	18586685	146	8461											
EIF4G1	0	.	GRCh38	chr3	184322706	184322706	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgagaacatccagcccgggGaacagaagtatgaatataag	16	6	11	8	1	0	3	0	2	0	2	1	5	1	4	2	2	3	1	2	2	7	3			C3L-01924_TP	C3L-01924_NB	G	G																c.1792G>T	p.Glu598Ter	p.E598*	ENST00000424196	11/32	526	461	65	616	615	1	strelka-varscan-mutect	EIF4G1,stop_gained,p.Glu591Ter,ENST00000342981,NM_182917.4;EIF4G1,stop_gained,p.Glu598Ter,ENST00000424196,;EIF4G1,stop_gained,p.Glu551Ter,ENST00000414031,NM_001291157.1;EIF4G1,stop_gained,p.Glu591Ter,ENST00000346169,NM_198241.2;EIF4G1,stop_gained,p.Glu598Ter,ENST00000352767,NM_001194947.1;EIF4G1,stop_gained,p.Glu504Ter,ENST00000392537,NM_198244.2;EIF4G1,stop_gained,p.Glu598Ter,ENST00000382330,NM_001194946.1;EIF4G1,stop_gained,p.Glu504Ter,ENST00000427845,;EIF4G1,stop_gained,p.Glu395Ter,ENST00000434061,NM_004953.4;EIF4G1,stop_gained,p.Glu427Ter,ENST00000350481,NM_198242.2;EIF4G1,stop_gained,p.Glu551Ter,ENST00000411531,;EIF4G1,stop_gained,p.Glu395Ter,ENST00000435046,;EIF4G1,stop_gained,p.Glu427Ter,ENST00000441154,;EIF4G1,stop_gained,p.Glu532Ter,ENST00000426123,;EIF4G1,stop_gained,p.Glu598Ter,ENST00000421110,;EIF4G1,stop_gained,p.Glu591Ter,ENST00000450424,;EIF4G1,stop_gained,p.Glu427Ter,ENST00000444861,;EIF4G1,downstream_gene_variant,,ENST00000457456,;EIF4G1,downstream_gene_variant,,ENST00000427141,;EIF4G1,downstream_gene_variant,,ENST00000456033,;EIF4G1,upstream_gene_variant,,ENST00000448284,;EIF4G1,downstream_gene_variant,,ENST00000427607,;EIF4G1,downstream_gene_variant,,ENST00000440448,;EIF4G1,downstream_gene_variant,,ENST00000444134,;EIF4G1,downstream_gene_variant,,ENST00000455679,;EIF4G1,downstream_gene_variant,,ENST00000428387,;SNORD66,upstream_gene_variant,,ENST00000390856,;EIF4G1,3_prime_UTR_variant,,ENST00000442406,;EIF4G1,3_prime_UTR_variant,,ENST00000413967,;EIF4G1,downstream_gene_variant,,ENST00000484862,;EIF4G1,upstream_gene_variant,,ENST00000466311,;EIF4G1,downstream_gene_variant,,ENST00000493299,;EIF4G1,upstream_gene_variant,,ENST00000482303,;	T	ENST00000424196	Transcript	stop_gained	2181/5653	1792/4821	598/1606	E/*	Gaa/Taa	COSM3331176	1		1	EIF4G1	HGNC	HGNC:3296	protein_coding	YES	CCDS54687.1	ENSP00000416255	Q04637		UPI00015E0966				11/32		hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10											1						HIGH	1	SNV	2		1	1										PASS		.	.												T	4	4	29	184322706	184322706	G	T	1	0	0	0	0	0	1	0	0	4870	1175	41	2		2	EIF4G1	3	184322706	Nonsense_Mutation	SNP	G	C3L-01924_TP	4613832	184322706	13972853	147	8462											
GAK	0	.	GRCh38	chr4	851771	851771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagctgggtgcgcggacccCccgctcctcccgcgccccga	5	4	12	20	6	0	0	0	0	0	0	2	2	2	1	7	2	2	2	7	2	1	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.3487G>C	p.Gly1163Arg	p.G1163R	ENST00000314167	25/28	118	100	18	115	114	1	strelka-varscan-mutect	GAK,missense_variant,p.Gly1163Arg,ENST00000314167,NM_005255.2;GAK,missense_variant,p.Gly1084Arg,ENST00000511163,NM_001318134.1,NM_001286833.1;GAK,missense_variant,p.Gly319Arg,ENST00000511980,;GAK,missense_variant,p.Gly268Arg,ENST00000618573,;GAK,downstream_gene_variant,,ENST00000510799,;GAK,non_coding_transcript_exon_variant,,ENST00000509566,;GAK,missense_variant,p.Gly51Arg,ENST00000504668,;GAK,non_coding_transcript_exon_variant,,ENST00000515868,;GAK,non_coding_transcript_exon_variant,,ENST00000511345,;GAK,upstream_gene_variant,,ENST00000502799,;	G	ENST00000314167	Transcript	missense_variant	3598/4442	3487/3936	1163/1311	G/R	Ggg/Cgg		1		-1	GAK	HGNC	HGNC:4113	protein_coding	YES	CCDS3340.1	ENSP00000314499	O14976		UPI000012B04A	NM_005255.2	deleterious(0)		25/28		hmmpanther:PTHR23172:SF34,hmmpanther:PTHR23172,Superfamily_domains:SSF46565																	MODERATE	1	SNV	1			1										PASS		rs1455189049	.												G	3	3	29	851771	851771	C	G	1	0	0	0	0	1	0	0	0	6063	623	22	4		4	GAK	4	851771	Missense_Mutation	SNP	C	C3L-01924_TP		851771	189362784	148	8463											
CTBP1	0	.	GRCh38	chr4	1237899	1237899	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaccgaatgtccacctccTgatggggctcaggacaaacg	12	6	10	13	2	1	1	1	1	0	0	3	3	3	2	4	3	2	1	4	3	3	0	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.446A>G	p.Gln149Arg	p.Q149R	ENST00000510568	2/2	128	114	14	157	157	0	strelka-varscan-mutect	CTBP1,missense_variant,p.Gln149Arg,ENST00000510568,;CTBP1,intron_variant,,ENST00000382952,NM_001012614.1;CTBP1,intron_variant,,ENST00000290921,NM_001328.2;CTBP1,intron_variant,,ENST00000515399,;CTBP1,intron_variant,,ENST00000514210,;CTBP1,intron_variant,,ENST00000506180,;CTBP1,intron_variant,,ENST00000513420,;CTBP1,upstream_gene_variant,,ENST00000629223,;CTBP1,intron_variant,,ENST00000515690,;CTBP1,intron_variant,,ENST00000514495,;CTBP1,upstream_gene_variant,,ENST00000514669,;	C	ENST00000510568	Transcript	missense_variant	1038/4250	446/507	149/168	Q/R	cAg/cGg		1		-1	CTBP1	HGNC	HGNC:2494	protein_coding			ENSP00000423872		E7EUB3	UPI0000070FA2				2/2																			MODERATE		SNV	1			1										PASS		.	.												C	3	2	29	1237899	1237899	T	C	1	0	0	0	0	1	0	0	0	3803	1580	55	5		5	CTBP1	4	1237899	Missense_Mutation	SNP	T	C3L-01924_TP	386128	1237899	188976656	149	8464											
CFAP99	0	.	GRCh38	chr4	2436926	2436926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttctgtctgggtgccTcgagtaccggaagctgctga	6	10	16	9	2	2	1	0	1	2	0	3	4	2	3	2	4	4	4	2	4	2	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.164T>C	p.Leu55Pro	p.L55P	ENST00000616117	2/15	241	218	23	255	255	0	strelka-varscan-mutect	CFAP99,missense_variant,p.Leu55Pro,ENST00000635017,;CFAP99,missense_variant,p.Leu55Pro,ENST00000616117,NM_001193282.2;CFAP99,non_coding_transcript_exon_variant,,ENST00000511731,;	C	ENST00000616117	Transcript	missense_variant	164/1941	164/1941	55/646	L/P	cTc/cCc		1		1	CFAP99	HGNC	HGNC:51180	protein_coding	YES	CCDS75092.1	ENSP00000480601		A0A087WWY8	UPI00043788D2	NM_001193282.2	deleterious(0)		2/15		hmmpanther:PTHR34649,hmmpanther:PTHR34649:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	29	2436926	2436926	T	C	1	0	0	0	0	1	0	0	0	3036	1551	54	5		5	CFAP99	4	2436926	Missense_Mutation	SNP	T	C3L-01924_TP	1199027	2436926	187777629	150	8465											
PROM1	0	.	GRCh38	chr4	15980449	15980449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacgtcctccgaatccattCgacgatagtacttagccagt	11	10	7	13	4	0	0	0	0	0	0	4	3	3	0	4	0	2	1	4	0	4	4	rs370736469		C3L-01924_TP	C3L-01924_NB	C	C																c.2462G>A	p.Arg821Gln	p.R821Q	ENST00000510224	24/28	184	171	13	249	249	0	strelka-varscan-mutect	PROM1,missense_variant,p.Arg812Gln,ENST00000505450,NM_001145848.1;PROM1,missense_variant,p.Arg812Gln,ENST00000508167,NM_001145847.1;PROM1,missense_variant,p.Arg821Gln,ENST00000510224,;PROM1,missense_variant,p.Arg821Gln,ENST00000447510,NM_006017.2;PROM1,missense_variant,p.Arg821Gln,ENST00000540805,NM_001145849.1,NM_001145851.1;PROM1,missense_variant,p.Arg821Gln,ENST00000539194,NM_001145850.1,NM_001145852.1;PROM1,missense_variant,p.Arg72Gln,ENST00000513946,;PROM1,missense_variant,p.Arg44Gln,ENST00000503884,;	T	ENST00000510224	Transcript	missense_variant	2711/4006	2462/2598	821/865	R/Q	cGa/cAa	rs370736469	1		-1	PROM1	HGNC	HGNC:9454	protein_coding	YES	CCDS47029.1	ENSP00000426809	O43490		UPI000004ECD6		deleterious(0.03)		24/28		hmmpanther:PTHR22730,hmmpanther:PTHR22730:SF3																	MODERATE	1	SNV	5			1										PASS		rs370736469	.												T	3	4	29	15980449	15980449	C	T	1	0	0	0	0	1	0	0	0	12687	884	31	1		1	PROM1	4	15980449	Missense_Mutation	SNP	C	C3L-01924_TP	13543523	15980449	174234106	151	8466											
DHX15	0	.	GRCh38	chr4	24554750	24554750	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccagttaagaaaagaagaAgatctccctcttcctcttca	14	10	6	11	0	4	4	1	0	3	4	6	5	5	4	3	0	0	1	3	0	5	3	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.1055T>A	p.Leu352His	p.L352H	ENST00000336812	5/14	162	131	31	219	219	0	strelka-varscan-mutect	DHX15,missense_variant,p.Leu352His,ENST00000336812,NM_001358.2;	T	ENST00000336812	Transcript	missense_variant	1212/2994	1055/2388	352/795	L/H	cTt/cAt		1		-1	DHX15	HGNC	HGNC:2738	protein_coding	YES	CCDS33966.1	ENSP00000336741	O43143		UPI000012907A	NM_001358.2	deleterious(0)		5/14		PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF95,Pfam_domain:PF00271,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	24554750	24554750	A	T	1	0	0	0	0	1	0	0	0	4305	72	3	4		4	DHX15	4	24554750	Missense_Mutation	SNP	A	C3L-01924_TP	8574301	24554750	165659805	152	8467											
CNGA1	0	.	GRCh38	chr4	47937033	47937033	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagaccaactccaccaaCagaccagcttcacaatcagc	15	6	4	16	0	3	2	3	0	0	2	4	2	4	2	4	0	4	1	4	0	4	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1668G>T	p.=	p.L556L	ENST00000402813	10/10	251	234	17	323	322	1	strelka-varscan-mutect	CNGA1,synonymous_variant,p.=,ENST00000402813,NM_001142564.1;CNGA1,synonymous_variant,p.=,ENST00000514170,;CNGA1,synonymous_variant,p.=,ENST00000420489,NM_000087.3;CNGA1,synonymous_variant,p.=,ENST00000544810,;CNGA1,synonymous_variant,p.=,ENST00000358519,;NIPAL1,intron_variant,,ENST00000513724,;NIPAL1,intron_variant,,ENST00000500571,;	A	ENST00000402813	Transcript	synonymous_variant	1811/2867	1668/2280	556/759	L	ctG/ctT		1		-1	CNGA1	HGNC	HGNC:2148	protein_coding	YES	CCDS47050.1	ENSP00000384264	P29973		UPI0001881B54	NM_001142564.1			10/10		Gene3D:2.60.120.10,PROSITE_profiles:PS50042,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF387,SMART_domains:SM00100,Superfamily_domains:SSF51206																	LOW	1	SNV	1			1										PASS		rs1188728815	.												A	2	1	29	47937033	47937033	C	A	1	0	0	0	0	0	0	0	1	3376	465	17	2		2	CNGA1	4	47937033	Silent	SNP	C	C3L-01924_TP	23382283	47937033	142277522	153	8468											
KDR	0	.	GRCh38	chr4	55115397	55115397	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcactaacagaagcaataaAtggagatctgtaatctagaa	18	9	8	6	0	3	3	1	0	2	3	3	4	3	3	0	1	2	2	0	1	8	4	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.373T>A	p.Phe125Ile	p.F125I	ENST00000263923	4/30	210	177	33	267	267	0	strelka-varscan-mutect	KDR,missense_variant,p.Phe125Ile,ENST00000263923,NM_002253.2;KDR,non_coding_transcript_exon_variant,,ENST00000512566,;	T	ENST00000263923	Transcript	missense_variant	669/5831	373/4071	125/1356	F/I	Ttt/Att		1		-1	KDR	HGNC	HGNC:6307	protein_coding	YES	CCDS3497.1	ENSP00000263923	P35968	A0A024RD88	UPI000003AE04	NM_002253.2	deleterious(0)		4/30		Gene3D:2.60.40.10,Prints_domain:PR01832,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	55115397	55115397	A	T	1	0	0	0	0	1	0	0	0	8059	101	4	4		4	KDR	4	55115397	Missense_Mutation	SNP	A	C3L-01924_TP	7178364	55115397	135099158	154	8469											
HTN3	0	.	GRCh38	chr4	70031991	70031991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaagggagctgattcaCatgcaaaggtaagacatttt	13	12	9	7	0	1	2	1	1	0	1	2	3	2	3	1	2	2	3	1	2	3	5	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.64C>A	p.His22Asn	p.H22N	ENST00000530128	3/6	169	143	26	254	254	0	strelka-varscan-mutect	HTN3,missense_variant,p.His22Asn,ENST00000530128,;HTN3,missense_variant,p.His22Asn,ENST00000526767,NM_000200.2;HTN3,missense_variant,p.His22Asn,ENST00000381057,;HTN3,non_coding_transcript_exon_variant,,ENST00000529625,;HTN3,non_coding_transcript_exon_variant,,ENST00000533547,;HTN3,downstream_gene_variant,,ENST00000528003,;	A	ENST00000530128	Transcript	missense_variant	139/775	64/156	22/51	H/N	Cat/Aat		1		1	HTN3	HGNC	HGNC:5284	protein_coding	YES	CCDS33999.1	ENSP00000432561	P15516		UPI000012C7A2		tolerated_low_confidence(0.31)		3/6		hmmpanther:PTHR15057:SF1,hmmpanther:PTHR15057																	MODERATE	1	SNV	2			1										PASS		rs1370726708	.												A	3	1	29	70031991	70031991	C	A	1	0	0	0	0	1	0	0	0	7331	478	17	2		2	HTN3	4	70031991	Missense_Mutation	SNP	C	C3L-01924_TP	14916594	70031991	120182564	155	8470											
ENAM	0	.	GRCh38	chr4	70634494	70634494	+	Missense_Mutation	SNP	C	C	A																															accagactcagtcaaaaaagCcaccacaaaagcggcctttg																								rs762288141		C3L-01924_TP	C3L-01924_NB	C	C																c.397C>A	p.Pro133Thr	p.P133T	ENST00000396073	6/9	300	269	31	427	427	0	strelka-varscan-mutect	ENAM,missense_variant,p.Pro133Thr,ENST00000396073,NM_031889.2;ENAM,upstream_gene_variant,,ENST00000472903,;ENAM,upstream_gene_variant,,ENST00000472597,;	A	ENST00000396073	Transcript	missense_variant	678/5679	397/3429	133/1142	P/T	Cca/Aca	rs762288141	1		1	ENAM	HGNC	HGNC:3344	protein_coding	YES	CCDS3544.2	ENSP00000379383	Q9NRM1		UPI000013CE60	NM_031889.2	tolerated(0.05)		6/9		Low_complexity_(Seg):seg,hmmpanther:PTHR16784:SF2,hmmpanther:PTHR16784																	MODERATE	1	SNV	1			1										PASS		rs762288141	.												A	3	1	29	70634494	70634494	C	A	1	0	0	0	0	1	0	0	0	4954	739	26	2		2	ENAM	4	70634494	Missense_Mutation	SNP	C	C3L-01924_TP	602503	70634494	119580061	156	8471	196	2									
ENAM	0	.	GRCh38	chr4	70634495	70634495	+	Missense_Mutation	SNP	C	C	A																															ccagactcagtcaaaaaagcCaccacaaaagcggcctttga																								rs772524304		C3L-01924_TP	C3L-01924_NB	C	C																c.398C>A	p.Pro133Gln	p.P133Q	ENST00000396073	6/9	298	268	30	432	431	1	strelka-varscan-mutect	ENAM,missense_variant,p.Pro133Gln,ENST00000396073,NM_031889.2;ENAM,upstream_gene_variant,,ENST00000472903,;ENAM,upstream_gene_variant,,ENST00000472597,;	A	ENST00000396073	Transcript	missense_variant	679/5679	398/3429	133/1142	P/Q	cCa/cAa	rs772524304	1		1	ENAM	HGNC	HGNC:3344	protein_coding	YES	CCDS3544.2	ENSP00000379383	Q9NRM1		UPI000013CE60	NM_031889.2	deleterious(0)		6/9		Low_complexity_(Seg):seg,hmmpanther:PTHR16784:SF2,hmmpanther:PTHR16784																	MODERATE	1	SNV	1			1										PASS		rs772524304	.												A	3	1	29	70634495	70634495	C	A	1	0	0	0	0	1	0	0	0	4954	594	21	2		2	ENAM	4	70634495	Missense_Mutation	SNP	C	C3L-01924_TP	1	70634495	119580060	157	8472	196	2									
GK2	0	.	GRCh38	chr4	79407112	79407112	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcatataaccctgaaaaGgctgggacaaagtaacagcc	15	6	11	9	0	0	1	0	1	0	0	0	2	0	2	2	3	4	3	2	3	6	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1089C>A	p.=	p.A363A	ENST00000358842	1/1	224	184	40	292	292	0	strelka-varscan-mutect	GK2,synonymous_variant,p.=,ENST00000358842,NM_033214.2;	T	ENST00000358842	Transcript	synonymous_variant	1182/1942	1089/1662	363/553	A	gcC/gcA		1		-1	GK2	HGNC	HGNC:4291	protein_coding	YES	CCDS3585.1	ENSP00000351706	Q14410	A0A140VKG0	UPI000011E629	NM_033214.2			1/1		hmmpanther:PTHR10196:SF46,hmmpanther:PTHR10196,TIGRFAM_domain:TIGR01311,PIRSF_domain:PIRSF000538,Gene3D:3.30.420.40,Pfam_domain:PF02782,Superfamily_domains:SSF53067																	LOW	1	SNV				1										PASS		.	.												T	2	4	29	79407112	79407112	G	T	1	0	0	0	0	0	0	0	1	6299	987	35	2		2	GK2	4	79407112	Silent	SNP	G	C3L-01924_TP	8772617	79407112	110807443	158	8473											
GPAT3	0	.	GRCh38	chr4	83604757	83604757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgattgtgggcaatggatCtctcagctaagaggacggat	11	10	14	6	1	2	2	1	1	1	1	3	6	2	5	0	4	1	2	0	4	2	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1295C>T	p.Ser432Phe	p.S432F	ENST00000611707	13/13	114	97	17	148	148	0	strelka-varscan-mutect	GPAT3,missense_variant,p.Ser432Phe,ENST00000611707,NM_001256422.1;GPAT3,missense_variant,p.Ser432Phe,ENST00000395226,NM_001256421.1;GPAT3,missense_variant,p.Ser432Phe,ENST00000264409,NM_032717.4;GPAT3,non_coding_transcript_exon_variant,,ENST00000509044,;	T	ENST00000611707	Transcript	missense_variant	1518/2633	1295/1305	432/434	S/F	tCt/tTt		1		1	GPAT3	HGNC	HGNC:28157	protein_coding	YES	CCDS3606.1	ENSP00000482571	Q53EU6	A0A024RDG5	UPI000004B62F	NM_001256422.1	deleterious(0)		13/13		hmmpanther:PTHR23063:SF10,hmmpanther:PTHR23063																	MODERATE	1	SNV	5			1										PASS		rs763892708	.												T	3	4	29	83604757	83604757	C	T	1	0	0	0	0	1	0	0	0	6487	913	32	3		3	GPAT3	4	83604757	Missense_Mutation	SNP	C	C3L-01924_TP	4197645	83604757	106609798	159	8474											
UNC5C	0	.	GRCh38	chr4	95219148	95219148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagaggtcatcttgggggGtgacagcacctgaggtgttg	8	9	17	7	0	2	3	1	2	1	1	2	4	2	3	1	5	1	2	1	5	0	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1466C>A	p.Thr489Asn	p.T489N	ENST00000453304	9/16	231	218	13	319	319	0	strelka-varscan-mutect	UNC5C,missense_variant,p.Thr489Asn,ENST00000453304,NM_003728.3;UNC5C,missense_variant,p.Thr448Asn,ENST00000610318,;UNC5C,missense_variant,p.Thr508Asn,ENST00000513796,;UNC5C,missense_variant,p.Thr508Asn,ENST00000506749,;	T	ENST00000453304	Transcript	missense_variant	1815/9875	1466/2796	489/931	T/N	aCc/aAc		1		-1	UNC5C	HGNC	HGNC:12569	protein_coding	YES	CCDS3643.1	ENSP00000406022	O95185		UPI000004E6A5	NM_003728.3	tolerated(0.57)		9/16		hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7																	MODERATE	1	SNV	1			1										PASS		rs1169277663	.												T	3	4	29	95219148	95219148	G	T	1	0	0	0	0	1	0	0	0	17517	1261	44	2		2	UNC5C	4	95219148	Missense_Mutation	SNP	G	C3L-01924_TP	11614391	95219148	94995407	160	8475											
ARHGEF38	0	.	GRCh38	chr4	105659139	105659139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacaagctcatccagaaacGctatgacaaactgctggatt	14	9	7	11	1	2	2	2	1	0	1	3	3	3	3	1	1	4	3	1	1	4	2	rs187252943		C3L-01924_TP	C3L-01924_NB	G	G																c.1319G>T	p.Arg440Leu	p.R440L	ENST00000420470	10/14	211	177	34	231	231	0	strelka-varscan-mutect	ARHGEF38,missense_variant,p.Arg440Leu,ENST00000420470,NM_001242729.1;ARHGEF38,non_coding_transcript_exon_variant,,ENST00000508036,;	T	ENST00000420470	Transcript	missense_variant	1463/5454	1319/2334	440/777	R/L	cGc/cTc	rs187252943	1		1	ARHGEF38	HGNC	HGNC:25968	protein_coding	YES	CCDS56338.1	ENSP00000416125	Q9NXL2		UPI0001D3B6A5	NM_001242729.1	deleterious(0)		10/14		PROSITE_profiles:PS51021,hmmpanther:PTHR22834,hmmpanther:PTHR22834:SF17,Gene3D:1.20.1270.60,SMART_domains:SM00721,Superfamily_domains:SSF103657																	MODERATE	1	SNV	5			1										PASS		rs187252943	.												T	3	4	29	105659139	105659139	G	T	1	0	0	0	0	1	0	0	0	1041	1087	38	1		1	ARHGEF38	4	105659139	Missense_Mutation	SNP	G	C3L-01924_TP	10439991	105659139	84555416	161	8476											
EGF	0	.	GRCh38	chr4	109943970	109943970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attggatgtgcttgataagcGgctgttttggattcagtaca	9	15	12	5	1	1	1	1	1	0	0	1	3	1	3	0	3	3	4	0	3	2	7	rs373552129		C3L-01924_TP	C3L-01924_NB	G	G																c.638G>A	p.Arg213Gln	p.R213Q	ENST00000265171	4/24	374	338	36	542	542	0	strelka-varscan-mutect	EGF,missense_variant,p.Arg213Gln,ENST00000265171,NM_001963.4;EGF,missense_variant,p.Arg213Gln,ENST00000509793,NM_001178131.1;EGF,missense_variant,p.Arg213Gln,ENST00000503392,NM_001178130.1;EGF,non_coding_transcript_exon_variant,,ENST00000502723,;	A	ENST00000265171	Transcript	missense_variant	1083/4880	638/3624	213/1207	R/Q	cGg/cAg	rs373552129,COSM4121342	1		1	EGF	HGNC	HGNC:3229	protein_coding	YES	CCDS3689.1	ENSP00000265171	P01133		UPI000013D5C8	NM_001963.4	deleterious(0.01)		4/24		Gene3D:2.120.10.30,PIRSF_domain:PIRSF001778,PROSITE_profiles:PS51120,SMART_domains:SM00135,Superfamily_domains:SSF63825											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs373552129	.												A	3	1	29	109943970	109943970	G	A	1	0	0	0	0	1	0	0	0	4798	1116	39	1		1	EGF	4	109943970	Missense_Mutation	SNP	G	C3L-01924_TP	4284831	109943970	80270585	162	8477											
ENPEP	0	.	GRCh38	chr4	110509670	110509670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagataaaatcgctattccaGattttggcactggtgccatg	11	13	9	8	1	0	2	0	0	0	2	2	2	1	2	2	2	1	2	2	2	4	6	rs772717391		C3L-01924_TP	C3L-01924_NB	G	G																c.1057G>T	p.Asp353Tyr	p.D353Y	ENST00000265162	5/20	121	105	16	166	166	0	strelka-varscan-mutect	ENPEP,missense_variant,p.Asp353Tyr,ENST00000265162,NM_001977.3;RP11-380D23.1,downstream_gene_variant,,ENST00000503998,;ENPEP,downstream_gene_variant,,ENST00000510961,;ENPEP,upstream_gene_variant,,ENST00000509344,;	T	ENST00000265162	Transcript	missense_variant	1399/6943	1057/2874	353/957	D/Y	Gat/Tat	rs772717391	1		1	ENPEP	HGNC	HGNC:3355	protein_coding	YES	CCDS3691.1	ENSP00000265162	Q07075		UPI000013D5C6	NM_001977.3	deleterious(0)		5/20		Pfam_domain:PF01433,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF188,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		rs772717391	.												T	3	4	29	110509670	110509670	G	T	1	0	0	0	0	1	0	0	0	4973	942	33	2		2	ENPEP	4	110509670	Missense_Mutation	SNP	G	C3L-01924_TP	565700	110509670	79704885	163	8478											
ANK2	0	.	GRCh38	chr4	113356689	113356689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaccagtgattcgagtacaaCctccttctccacttccatca	11	11	4	15	1	2	1	1	1	1	0	6	2	4	1	5	0	3	1	5	0	3	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.8071C>A	p.Pro2691Thr	p.P2691T	ENST00000357077	38/46	327	269	58	456	456	0	strelka-varscan-mutect	ANK2,missense_variant,p.Pro2691Thr,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Pro2658Thr,ENST00000264366,;ANK2,5_prime_UTR_variant,,ENST00000612754,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;	A	ENST00000357077	Transcript	missense_variant	8124/14196	8071/11874	2691/3957	P/T	Cct/Act		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	deleterious_low_confidence(0)		38/46		Low_complexity_(Seg):seg,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	113356689	113356689	C	A	1	0	0	0	0	1	0	0	0	721	507	18	2		2	ANK2	4	113356689	Missense_Mutation	SNP	C	C3L-01924_TP	2847019	113356689	76857866	164	8479											
ANK2	0	.	GRCh38	chr4	113359148	113359148	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgatgaaagtagtagtgcCctggaagtatcagtaattga	14	10	12	5	1	1	2	1	2	0	0	1	5	1	3	1	1	1	4	1	1	6	5	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.10530C>A	p.=	p.A3510A	ENST00000357077	38/46	95	75	20	149	148	1	strelka-varscan-mutect	ANK2,synonymous_variant,p.=,ENST00000357077,NM_001148.4;ANK2,synonymous_variant,p.=,ENST00000264366,;ANK2,synonymous_variant,p.=,ENST00000505342,;ANK2,3_prime_UTR_variant,,ENST00000612754,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000508007,;	A	ENST00000357077	Transcript	synonymous_variant	10583/14196	10530/11874	3510/3957	A	gcC/gcA		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4			38/46		hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	29	113359148	113359148	C	A	1	0	0	0	0	0	0	0	1	721	610	22	2		2	ANK2	4	113359148	Silent	SNP	C	C3L-01924_TP	2459	113359148	76855407	165	8480											
TRAM1L1	0	.	GRCh38	chr4	117084617	117084617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaagtcacaagtctaccCaagataaacacaatggccca	18	7	5	11	0	2	1	1	0	1	1	2	1	2	1	2	1	2	0	2	1	8	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.777G>C	p.Leu259Phe	p.L259F	ENST00000310754	1/1	231	210	21	303	303	0	strelka-varscan-mutect	TRAM1L1,missense_variant,p.Leu259Phe,ENST00000310754,NM_152402.2;	G	ENST00000310754	Transcript	missense_variant	960/2023	777/1110	259/369	L/F	ttG/ttC		1		-1	TRAM1L1	HGNC	HGNC:28371	protein_coding	YES	CCDS3707.1	ENSP00000309402	Q8N609		UPI000013F075	NM_152402.2	tolerated(0.19)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50922,hmmpanther:PTHR12371,hmmpanther:PTHR12371:SF9,PIRSF_domain:PIRSF005449,Pfam_domain:PF03798,SMART_domains:SM00724																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	29	117084617	117084617	C	G	1	0	0	0	0	1	0	0	0	16935	593	21	4		4	TRAM1L1	4	117084617	Missense_Mutation	SNP	C	C3L-01924_TP	3725469	117084617	73129938	166	8481											
MFSD8	0	.	GRCh38	chr4	127921672	127921673	+	Frame_Shift_Ins	INS	-	-	A																															ccaggcttgttcaatcgagcINSaaccagttggtctttcattg																								novel		C3L-01924_TP	C3L-01924_NB	-	-																c.1201dupT	p.Cys401LeufsTer4	p.C401Lfs*4	ENST00000296468	12/13	378	320	58	482	481	1	sindel-varindel-pindel	MFSD8,frameshift_variant,p.Cys401LeufsTer4,ENST00000296468,NM_152778.2;MFSD8,frameshift_variant,p.Cys356LeufsTer4,ENST00000513559,;MFSD8,non_coding_transcript_exon_variant,,ENST00000515130,;MFSD8,downstream_gene_variant,,ENST00000505284,;MFSD8,upstream_gene_variant,,ENST00000503928,;MFSD8,non_coding_transcript_exon_variant,,ENST00000504126,;MFSD8,downstream_gene_variant,,ENST00000509826,;	A	ENST00000296468	Transcript	frameshift_variant	1329-1330/4510	1201-1202/1557	401/518	C/LX	tgc/tTgc		1		-1	MFSD8	HGNC	HGNC:28486	protein_coding	YES	CCDS3736.1	ENSP00000296468	Q8NHS3		UPI000004DAF1	NM_152778.2			12/13		PROSITE_profiles:PS50850,hmmpanther:PTHR23510:SF3,hmmpanther:PTHR23510																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	29	127921672	127921672	-	A	1	0	1	1	0	0	0	0	0	9496	710	25	0		0	MFSD8	4	127921672	Frame_Shift_Ins	INS	-	C3L-01924_TP	10837055	127921672	62292883	167	8482											
ABHD18	0	.	GRCh38	chr4	128030582	128030582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattccacgaacaggagttcGaagtttacaagaaatttggc	14	11	9	7	2	0	1	0	0	0	1	2	4	1	2	1	2	2	2	1	2	6	6	rs771220150		C3L-01924_TP	C3L-01924_NB	G	G																c.1151G>T	p.Arg384Leu	p.R384L	ENST00000398965	11/11	128	119	9	118	118	0	strelka-varscan-mutect	ABHD18,missense_variant,p.Arg336Leu,ENST00000388795,NM_001319305.1,NM_001319306.1;ABHD18,missense_variant,p.Arg384Leu,ENST00000398965,NM_001039717.1;ABHD18,missense_variant,p.Arg384Leu,ENST00000444616,;ABHD18,missense_variant,p.Arg291Leu,ENST00000611882,;ABHD18,3_prime_UTR_variant,,ENST00000473040,;	T	ENST00000398965	Transcript	missense_variant	1469/2177	1151/1245	384/414	R/L	cGa/cTa	rs771220150	1		1	ABHD18	HGNC	HGNC:26111	protein_coding	YES	CCDS47131.1	ENSP00000381937	Q0P651		UPI00006C511D	NM_001039717.1	tolerated(0.36)		11/11		hmmpanther:PTHR13617,Gene3D:3.40.50.1820,Pfam_domain:PF09752,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		rs771220150	.												T	3	4	29	128030582	128030582	G	T	1	0	0	0	0	1	0	0	0	91	1058	37	1		1	ABHD18	4	128030582	Missense_Mutation	SNP	G	C3L-01924_TP	108910	128030582	62183973	168	8483											
PCDH10	0	.	GRCh38	chr4	133152527	133152527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgcagagctccaatgtacCcagtaacccggcccaggtgc	9	6	12	14	1	0	1	0	0	0	1	1	1	1	1	4	3	5	4	4	3	3	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2387C>A	p.Pro796His	p.P796H	ENST00000264360	1/5	243	214	29	314	314	0	strelka-varscan-mutect	PCDH10,missense_variant,p.Pro796His,ENST00000264360,NM_032961.2;PCDH10,missense_variant,p.Pro796His,ENST00000618019,NM_020815.2;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;PCDH10,upstream_gene_variant,,ENST00000511112,;	A	ENST00000264360	Transcript	missense_variant	3213/8489	2387/3123	796/1040	P/H	cCc/cAc		1		1	PCDH10	HGNC	HGNC:13404	protein_coding	YES	CCDS34063.1	ENSP00000264360	Q9P2E7	X5D999	UPI0000161C61	NM_032961.2	deleterious(0.05)		1/5		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	133152527	133152527	C	A	1	0	0	0	0	1	0	0	0	11594	623	22	2		2	PCDH10	4	133152527	Missense_Mutation	SNP	C	C3L-01924_TP	5121945	133152527	57062028	169	8484											
SMARCA5	0	.	GRCh38	chr4	143528692	143528692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttaactttctgttgcCagatgtgtttaattcagcag	9	17	7	8	0	3	1	1	0	2	1	3	1	3	1	1	0	3	3	1	0	2	7	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1067C>T	p.Pro356Leu	p.P356L	ENST00000283131	8/24	120	102	18	205	202	3	strelka-varscan-mutect	SMARCA5,missense_variant,p.Pro356Leu,ENST00000283131,NM_003601.3;	T	ENST00000283131	Transcript	missense_variant	1529/7923	1067/3159	356/1052	P/L	cCa/cTa		1		1	SMARCA5	HGNC	HGNC:11101	protein_coding	YES	CCDS3761.1	ENSP00000283131	O60264		UPI000006E693	NM_003601.3	deleterious(0)		8/24		PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF691,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	143528692	143528692	C	T	1	0	0	0	0	1	0	0	0	15064	594	21	3		3	SMARCA5	4	143528692	Missense_Mutation	SNP	C	C3L-01924_TP	10376165	143528692	46685863	170	8485											
DCHS2	0	.	GRCh38	chr4	154489317	154489317	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacctgcagaaagcagTgtccaaccggggcatgctct	10	7	10	14	1	2	1	1	0	1	1	3	1	3	1	3	2	4	4	3	2	2	0	rs750128177		C3L-01924_TP	C3L-01924_NB	T	T																c.2039A>T	p.His680Leu	p.H680L	ENST00000339452	1/8	28	24	4	56	56	0	strelka-varscan-mutect	DCHS2,missense_variant,p.His680Leu,ENST00000339452,NM_001142552.1;DCHS2,non_coding_transcript_exon_variant,,ENST00000456341,;	A	ENST00000339452	Transcript	missense_variant	2400/5064	2039/4110	680/1369	H/L	cAc/cTc	rs750128177	1		-1	DCHS2	HGNC	HGNC:23111	protein_coding		CCDS47150.1	ENSP00000345062		A0A0A0MRC0	UPI00002372F1	NM_001142552.1	tolerated(0.19)		1/8		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	154489317	154489317	T	A	1	0	0	0	0	1	0	0	0	4091	1696	59	4		4	DCHS2	4	154489317	Missense_Mutation	SNP	T	C3L-01924_TP	10960625	154489317	35725238	171	8486											
NAF1	0	.	GRCh38	chr4	163166458	163166458	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgcagtctccgcaggcCggcgattcagccggtggctg	5	7	16	13	5	2	1	1	1	1	0	3	2	2	1	3	4	1	3	3	4	0	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.270G>T	p.=	p.P90P	ENST00000274054	1/8	74	70	4	93	93	0	strelka-varscan-mutect	NAF1,synonymous_variant,p.=,ENST00000274054,NM_138386.2;NAF1,synonymous_variant,p.=,ENST00000422287,NM_001128931.1;NAF1,non_coding_transcript_exon_variant,,ENST00000509232,;NAF1,non_coding_transcript_exon_variant,,ENST00000502973,;	A	ENST00000274054	Transcript	synonymous_variant	464/1907	270/1485	90/494	P	ccG/ccT		1		-1	NAF1	HGNC	HGNC:25126	protein_coding	YES	CCDS3803.1	ENSP00000274054	Q96HR8		UPI000013D9EB	NM_138386.2			1/8		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	29	163166458	163166458	C	A	1	0	0	0	0	0	0	0	1	10147	639	23	1		1	NAF1	4	163166458	Silent	SNP	C	C3L-01924_TP	8677141	163166458	27048097	172	8487											
TKTL2	0	.	GRCh38	chr4	163472194	163472194	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaggcttcatggagagtaActccagctccaattactgtg	11	11	9	10	0	1	1	1	0	0	1	3	2	3	1	2	2	3	3	2	2	4	4	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.1541T>G	p.Val514Gly	p.V514G	ENST00000280605	1/1	178	156	22	234	233	1	strelka-varscan-mutect	TKTL2,missense_variant,p.Val514Gly,ENST00000280605,NM_032136.4;	C	ENST00000280605	Transcript	missense_variant	1553/2654	1541/1881	514/626	V/G	gTt/gGt		1		-1	TKTL2	HGNC	HGNC:25313	protein_coding	YES	CCDS3805.1	ENSP00000280605	Q9H0I9	A0A140VKC2	UPI0000037C67	NM_032136.4	deleterious(0)		1/1		hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF49,Pfam_domain:PF02780,Gene3D:3.40.50.920,Superfamily_domains:SSF52922																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	29	163472194	163472194	A	C	1	0	0	0	0	1	0	0	0	16379	43	2	5		5	TKTL2	4	163472194	Missense_Mutation	SNP	A	C3L-01924_TP	305736	163472194	26742361	173	8488											
RP11-668G10.2	0	.	GRCh38	chr4	165279377	165279377	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttccctctggttgctgAcaccaatagcttttatgttg	6	17	9	9	0	1	1	0	1	1	0	2	1	2	1	2	2	2	5	2	2	3	6	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.269T>A	p.Val90Asp	p.V90D	ENST00000505354	1/1	382	314	68	571	571	0	strelka-varscan-mutect	RP11-668G10.2,missense_variant,p.Val90Asp,ENST00000505354,;KLHL2,intron_variant,,ENST00000226725,NM_007246.3;KLHL2,intron_variant,,ENST00000538127,NM_001161522.1;KLHL2,intron_variant,,ENST00000421009,;KLHL2,intron_variant,,ENST00000514860,NM_001161521.1;KLHL2,intron_variant,,ENST00000506761,;KLHL2,intron_variant,,ENST00000509028,;KLHL2,intron_variant,,ENST00000506541,;KLHL2,intron_variant,,ENST00000506824,;	T	ENST00000505354	Transcript	missense_variant	303/1868	269/1662	90/553	V/D	gTc/gAc		1		-1	RP11-668G10.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000489687	Q14409		UPI000013EB4C				1/1		Gene3D:3.30.420.40,Pfam_domain:PF00370,PIRSF_domain:PIRSF000538,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF63,Superfamily_domains:SSF53067,TIGRFAM_domain:TIGR01311																	MODERATE		SNV				1										PASS		.	.												T	3	4	29	165279377	165279377	A	T	1	0	0	0	0	1	0	0	0	13756	275	10	4		4	RP11-668G10.2	4	165279377	Missense_Mutation	SNP	A	C3L-01924_TP	1807183	165279377	24935178	174	8489											
TLL1	0	.	GRCh38	chr4	166055109	166055109	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattgtgcttatgactacCtggaagttagagatggaacc	13	11	10	7	0	0	2	0	1	0	1	0	5	0	4	2	2	3	2	2	2	6	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1558C>A	p.Leu520Met	p.L520M	ENST00000061240	13/21	127	110	17	141	141	0	strelka-varscan-mutect	TLL1,missense_variant,p.Leu520Met,ENST00000061240,NM_012464.4;TLL1,missense_variant,p.Leu543Met,ENST00000507499,;RNA5SP170,upstream_gene_variant,,ENST00000517150,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	A	ENST00000061240	Transcript	missense_variant	2205/6708	1558/3042	520/1013	L/M	Ctg/Atg		1		1	TLL1	HGNC	HGNC:11843	protein_coding	YES	CCDS3811.1	ENSP00000061240	O43897		UPI0000072EED	NM_012464.4	deleterious(0)		13/21		Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001199,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	166055109	166055109	C	A	1	0	0	0	0	1	0	0	0	16391	680	24	2		2	TLL1	4	166055109	Missense_Mutation	SNP	C	C3L-01924_TP	775732	166055109	24159446	175	8490											
HAND2	0	.	GRCh38	chr4	173529075	173529075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggagtggtccaggccggcgGcgccgctggcatactcgggg	4	5	20	12	5	0	0	0	0	0	0	2	1	1	1	3	8	1	2	3	8	1	1	rs758127022		C3L-01924_TP	C3L-01924_NB	G	G																c.215C>A	p.Ala72Asp	p.A72D	ENST00000359562	1/2	63	58	5	90	90	0	strelka-varscan-mutect	HAND2,missense_variant,p.Ala72Asp,ENST00000359562,NM_021973.2;HAND2,splice_region_variant,,ENST00000621866,;HAND2-AS1,intron_variant,,ENST00000512099,;HAND2-AS1,intron_variant,,ENST00000515310,;HAND2-AS1,upstream_gene_variant,,ENST00000502896,;HAND2-AS1,upstream_gene_variant,,ENST00000507062,;HAND2-AS1,upstream_gene_variant,,ENST00000510339,;HAND2-AS1,upstream_gene_variant,,ENST00000515350,;HAND2-AS1,upstream_gene_variant,,ENST00000507571,;HAND2-AS1,upstream_gene_variant,,ENST00000508534,;HAND2-AS1,upstream_gene_variant,,ENST00000503198,;HAND2-AS1,upstream_gene_variant,,ENST00000616485,;HAND2-AS1,upstream_gene_variant,,ENST00000503474,;HAND2-AS1,upstream_gene_variant,,ENST00000502334,;HAND2-AS1,upstream_gene_variant,,ENST00000514673,;HAND2-AS1,upstream_gene_variant,,ENST00000508887,;HAND2-AS1,upstream_gene_variant,,ENST00000515376,;HAND2-AS1,upstream_gene_variant,,ENST00000514431,;HAND2-AS1,upstream_gene_variant,,ENST00000512246,;HAND2-AS1,upstream_gene_variant,,ENST00000505621,;HAND2-AS1,upstream_gene_variant,,ENST00000507322,;HAND2-AS1,upstream_gene_variant,,ENST00000504740,;HAND2-AS1,upstream_gene_variant,,ENST00000515741,;HAND2-AS1,upstream_gene_variant,,ENST00000515345,;HAND2-AS1,upstream_gene_variant,,ENST00000504429,;HAND2-AS1,upstream_gene_variant,,ENST00000509640,;HAND2-AS1,upstream_gene_variant,,ENST00000509866,;HAND2-AS1,upstream_gene_variant,,ENST00000510268,;HAND2-AS1,upstream_gene_variant,,ENST00000511728,;HAND2-AS1,upstream_gene_variant,,ENST00000512929,;HAND2-AS1,upstream_gene_variant,,ENST00000507636,;HAND2-AS1,upstream_gene_variant,,ENST00000510221,;HAND2-AS1,upstream_gene_variant,,ENST00000511196,;HAND2-AS1,upstream_gene_variant,,ENST00000512209,;HAND2-AS1,upstream_gene_variant,,ENST00000512943,;HAND2-AS1,upstream_gene_variant,,ENST00000505032,;HAND2-AS1,upstream_gene_variant,,ENST00000503309,;HAND2-AS1,upstream_gene_variant,,ENST00000505817,;HAND2-AS1,upstream_gene_variant,,ENST00000502941,;HAND2,non_coding_transcript_exon_variant,,ENST00000505300,;HAND2,upstream_gene_variant,,ENST00000503024,;	T	ENST00000359562	Transcript	missense_variant	1155/2780	215/654	72/217	A/D	gCc/gAc	rs758127022	1		-1	HAND2	HGNC	HGNC:4808	protein_coding	YES	CCDS3819.1	ENSP00000352565	P61296		UPI0000003FE8	NM_021973.2	tolerated(0.14)		1/2		hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF41																	MODERATE	1	SNV	1			1										PASS		rs758127022	.												T	3	4	29	173529075	173529075	G	T	1	0	0	0	0	1	0	0	0	6836	1217	42	2		2	HAND2	4	173529075	Missense_Mutation	SNP	G	C3L-01924_TP	7473966	173529075	16685480	176	8491											
ASB5	0	.	GRCh38	chr4	176216948	176216948	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtttacaatttctgtgctGgattgttgagcagcagcatg	10	14	11	6	0	1	1	0	1	1	0	1	2	1	2	0	1	5	6	0	1	3	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.732C>A	p.=	p.S244S	ENST00000296525	6/7	152	117	35	192	192	0	strelka-varscan-mutect	ASB5,synonymous_variant,p.=,ENST00000296525,NM_080874.3;ASB5,synonymous_variant,p.=,ENST00000512254,;ASB5,downstream_gene_variant,,ENST00000511879,;	T	ENST00000296525	Transcript	synonymous_variant	846/3031	732/990	244/329	S	tcC/tcA		1		-1	ASB5	HGNC	HGNC:17180	protein_coding	YES	CCDS3827.1	ENSP00000296525	Q8WWX0	Q5HYF3	UPI00000015CF	NM_080874.3			6/7		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24136,hmmpanther:PTHR24136:SF18,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	176216948	176216948	G	T	1	0	0	0	0	0	0	0	1	1168	1335	47	2		2	ASB5	4	176216948	Silent	SNP	G	C3L-01924_TP	2687873	176216948	13997607	177	8492											
MTNR1A	0	.	GRCh38	chr4	186533856	186533856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattttggttcagtagccCgtatataatggcattgaggc	11	13	11	6	1	1	1	1	1	0	0	1	2	1	1	1	3	1	4	1	3	5	8			C3L-01924_TP	C3L-01924_NB	C	C																c.886G>A	p.Gly296Arg	p.G296R	ENST00000307161	2/2	439	384	55	481	481	0	strelka-varscan-mutect	MTNR1A,missense_variant,p.Gly296Arg,ENST00000307161,NM_005958.3;RP11-215A19.2,intron_variant,,ENST00000509111,;	T	ENST00000307161	Transcript	missense_variant	1088/1289	886/1053	296/350	G/R	Ggg/Agg	COSM3602629	1		-1	MTNR1A	HGNC	HGNC:7463	protein_coding	YES	CCDS3848.1	ENSP00000302811	P48039		UPI0000050407	NM_005958.3	deleterious(0.03)		2/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF52,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE	1	SNV	1		1	1										PASS		rs1483013458	.												T	3	4	29	186533856	186533856	C	T	1	0	0	0	0	1	0	0	0	9938	652	23	1		1	MTNR1A	4	186533856	Missense_Mutation	SNP	C	C3L-01924_TP	10316908	186533856	3680699	178	8493											
ICE1	0	.	GRCh38	chr5	5464880	5464880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagtgctaaaagactgcGcctggacactgggtccccag	11	6	13	11	1	0	2	0	0	0	2	1	4	1	3	3	2	2	1	3	2	3	1	rs757017386		C3L-01924_TP	C3L-01924_NB	G	G																c.5546G>T	p.Arg1849Leu	p.R1849L	ENST00000296564	13/19	333	304	29	313	313	0	strelka-varscan-mutect	ICE1,missense_variant,p.Arg1849Leu,ENST00000296564,NM_015325.2;	T	ENST00000296564	Transcript	missense_variant	5768/7927	5546/6801	1849/2266	R/L	cGc/cTc	rs757017386	1		1	ICE1	HGNC	HGNC:29154	protein_coding	YES	CCDS47187.1	ENSP00000296564	Q9Y2F5		UPI00015542F9	NM_015325.2	deleterious(0)		13/19		hmmpanther:PTHR11852:SF4,hmmpanther:PTHR11852																	MODERATE	1	SNV	1			1										PASS		rs757017386	.												T	3	4	29	5464880	5464880	G	T	1	0	0	0	0	1	0	0	0	7384	1087	38	1		1	ICE1	5	5464880	Missense_Mutation	SNP	G	C3L-01924_TP		5464880	176073379	179	8494											
ADCY2	0	.	GRCh38	chr5	7707768	7707768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcttataaagtggaggaggGagatggtgacattagggacc	12	8	16	5	1	0	2	0	1	0	1	0	6	0	5	1	5	0	1	1	5	4	3			C3L-01924_TP	C3L-01924_NB	G	G																c.1331G>T	p.Gly444Val	p.G444V	ENST00000338316	9/25	295	251	44	268	267	1	strelka-varscan-mutect	ADCY2,missense_variant,p.Gly444Val,ENST00000338316,NM_020546.2;RP11-711G10.1,downstream_gene_variant,,ENST00000514105,;	T	ENST00000338316	Transcript	missense_variant	1420/6575	1331/3276	444/1091	G/V	gGa/gTa	COSM365829,COSM4956689,COSM4956690	1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2	deleterious(0.04)		9/25		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,Superfamily_domains:SSF55073											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	29	7707768	7707768	G	T	1	0	0	0	0	1	0	0	0	338	1174	41	2		2	ADCY2	5	7707768	Missense_Mutation	SNP	G	C3L-01924_TP	2242888	7707768	173830491	180	8495											
DNAH5	0	.	GRCh38	chr5	13753288	13753288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatcttgccttgagtctgtGgatcaattaacaaagggtaa	13	12	10	6	0	3	2	1	1	2	1	3	3	3	3	1	2	2	1	1	2	4	4	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.10817C>T	p.Pro3606Leu	p.P3606L	ENST00000265104	63/79	366	222	144	335	334	1	strelka-varscan-mutect	DNAH5,missense_variant,p.Pro3606Leu,ENST00000265104,NM_001369.2;	A	ENST00000265104	Transcript	missense_variant	10922/15633	10817/13875	3606/4624	P/L	cCa/cTa		1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2	deleterious(0)		63/79		hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676,Pfam_domain:PF12781																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	13753288	13753288	G	A	1	0	0	0	0	1	0	0	0	4419	1348	47	3		3	DNAH5	5	13753288	Missense_Mutation	SNP	G	C3L-01924_TP	6045520	13753288	167784971	181	8496											
CDH12	0	.	GRCh38	chr5	21751916	21751916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtaggcatatgtggccaGtgaatcgtatggtggggcag	8	11	16	6	2	0	1	0	1	0	0	2	1	0	1	1	5	0	4	1	5	4	4	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2206C>A	p.Leu736Met	p.L736M	ENST00000382254	15/15	511	478	33	386	386	0	strelka-varscan-mutect	CDH12,missense_variant,p.Leu736Met,ENST00000382254,NM_004061.3;CDH12,missense_variant,p.Leu736Met,ENST00000504376,;CDH12,missense_variant,p.Leu696Met,ENST00000522262,;RP11-804N13.1,intron_variant,,ENST00000522350,;CDH12,non_coding_transcript_exon_variant,,ENST00000521384,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;	T	ENST00000382254	Transcript	missense_variant	3293/4164	2206/2385	736/794	L/M	Ctg/Atg		1		-1	CDH12	HGNC	HGNC:1751	protein_coding	YES	CCDS3890.1	ENSP00000371689	P55289		UPI00000622EB	NM_004061.3	deleterious(0)		15/15		Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF96																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	21751916	21751916	G	T	1	0	0	0	0	1	0	0	0	2801	1020	36	2		2	CDH12	5	21751916	Missense_Mutation	SNP	G	C3L-01924_TP	7998628	21751916	159786343	182	8497											
CDH10	0	.	GRCh38	chr5	24491618	24491618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatggcgatcaaggcccCagtgctgaggccggcaggga	9	4	18	10	2	1	1	1	1	0	0	1	5	1	3	3	6	1	2	3	6	1	0	rs369284486		C3L-01924_TP	C3L-01924_NB	C	C																c.1834G>T	p.Gly612Trp	p.G612W	ENST00000264463	11/12	262	216	46	219	219	0	strelka-varscan-mutect	CDH10,missense_variant,p.Gly612Trp,ENST00000264463,NM_006727.3;CDH10,non_coding_transcript_exon_variant,,ENST00000502921,;CDH10,3_prime_UTR_variant,,ENST00000510477,;CDH10,non_coding_transcript_exon_variant,,ENST00000503958,;	A	ENST00000264463	Transcript	missense_variant	2342/3438	1834/2367	612/788	G/W	Ggg/Tgg	rs369284486,COSM5351188	1		-1	CDH10	HGNC	HGNC:1749	protein_coding	YES	CCDS3892.1	ENSP00000264463	Q9Y6N8	X5D8X5	UPI0000167B7B	NM_006727.3	deleterious(0)		11/12		Transmembrane_helices:TMhelix,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs369284486	.												A	3	1	29	24491618	24491618	C	A	1	0	0	0	0	1	0	0	0	2799	594	21	2		2	CDH10	5	24491618	Missense_Mutation	SNP	C	C3L-01924_TP	2739702	24491618	157046641	183	8498											
RAI14	0	.	GRCh38	chr5	34824161	34824161	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctggagaaacaactcttAgaagagaaagctgctatgac	17	7	10	7	0	1	4	0	1	1	3	1	6	1	4	0	1	5	3	0	1	7	2	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.2328A>G	p.=	p.L776L	ENST00000515799	17/20	194	166	28	203	203	0	strelka-varscan-mutect	RAI14,synonymous_variant,p.=,ENST00000265109,NM_015577.2;RAI14,synonymous_variant,p.=,ENST00000428746,NM_001145520.1;RAI14,synonymous_variant,p.=,ENST00000515799,NM_001145525.1;RAI14,synonymous_variant,p.=,ENST00000503673,NM_001145521.1;RAI14,synonymous_variant,p.=,ENST00000506376,NM_001145523.1;RAI14,synonymous_variant,p.=,ENST00000512629,NM_001145522.1;RAI14,downstream_gene_variant,,ENST00000508777,;RAI14,upstream_gene_variant,,ENST00000507883,;RAI14,upstream_gene_variant,,ENST00000513772,;	G	ENST00000515799	Transcript	synonymous_variant	2820/3486	2328/2952	776/983	L	ttA/ttG		1		1	RAI14	HGNC	HGNC:14873	protein_coding	YES	CCDS54839.1	ENSP00000427123	Q9P0K7		UPI00001B296B	NM_001145525.1			17/20		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24129																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	29	34824161	34824161	A	G	1	0	0	0	0	0	0	0	1	13167	417	15	5		5	RAI14	5	34824161	Silent	SNP	A	C3L-01924_TP	10332543	34824161	146714098	184	8499											
CARD6	0	.	GRCh38	chr5	40853141	40853141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggatactgaacttgaaGccagcacagctactgttttg	12	10	10	9	0	0	3	0	2	0	1	0	4	0	4	1	1	6	3	1	1	4	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1809G>T	p.Lys603Asn	p.K603N	ENST00000254691	3/3	349	291	58	274	274	0	strelka-varscan-mutect	CARD6,missense_variant,p.Lys603Asn,ENST00000254691,NM_032587.3;CARD6,intron_variant,,ENST00000381677,;	T	ENST00000254691	Transcript	missense_variant	2008/4221	1809/3114	603/1037	K/N	aaG/aaT		1		1	CARD6	HGNC	HGNC:16394	protein_coding	YES	CCDS3935.1	ENSP00000254691	Q9BX69		UPI000013CE50	NM_032587.3	tolerated(0.12)		3/3		hmmpanther:PTHR22797,hmmpanther:PTHR22797:SF36																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	40853141	40853141	G	T	1	0	0	0	0	1	0	0	0	2346	962	34	2		2	CARD6	5	40853141	Missense_Mutation	SNP	G	C3L-01924_TP	6028980	40853141	140685118	185	8500											
MROH2B	0	.	GRCh38	chr5	41038866	41038866	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatctgtcttggtcaggCtctttttcccagaaaaaagg	10	13	9	9	0	4	2	1	1	3	1	5	2	5	2	1	3	0	1	1	3	3	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2084G>T	p.Ser695Ile	p.S695I	ENST00000399564	21/42	94	76	18	85	85	0	strelka-varscan-mutect	MROH2B,missense_variant,p.Ser695Ile,ENST00000399564,NM_173489.4;MROH2B,missense_variant,p.Ser250Ile,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;	A	ENST00000399564	Transcript	missense_variant	2535/5239	2084/4758	695/1585	S/I	aGc/aTc		1		-1	MROH2B	HGNC	HGNC:26857	protein_coding	YES	CCDS47202.1	ENSP00000382476	Q7Z745		UPI000020CA04	NM_173489.4	tolerated(0.07)		21/42		hmmpanther:PTHR23120:SF22,hmmpanther:PTHR23120,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	41038866	41038866	C	A	1	0	0	0	0	1	0	0	0	9745	797	28	2		2	MROH2B	5	41038866	Missense_Mutation	SNP	C	C3L-01924_TP	185725	41038866	140499393	186	8501											
CDC20B	0	.	GRCh38	chr5	55146649	55146649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagagtcaaggtctctttctCaggcggtgtcttcagcactg	7	13	11	10	1	5	1	3	0	3	1	7	1	5	1	0	3	1	1	0	3	2	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.334G>A	p.Glu112Lys	p.E112K	ENST00000381375	3/12	245	208	37	237	237	0	strelka-varscan-mutect	CDC20B,missense_variant,p.Glu112Lys,ENST00000296733,NM_152623.2;CDC20B,missense_variant,p.Glu112Lys,ENST00000381375,NM_001170402.1;CDC20B,missense_variant,p.Glu112Lys,ENST00000322374,NM_001145734.2;CDC20B,missense_variant,p.Glu91Lys,ENST00000507931,;CDC20B,missense_variant,p.Glu112Lys,ENST00000513180,;	T	ENST00000381375	Transcript	missense_variant	480/2591	334/1560	112/519	E/K	Gag/Aag		1		-1	CDC20B	HGNC	HGNC:24222	protein_coding	YES	CCDS54852.1	ENSP00000370781	Q86Y33		UPI0000D61625	NM_001170402.1	tolerated(0.33)		3/12		hmmpanther:PTHR19918,hmmpanther:PTHR19918:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	55146649	55146649	C	T	1	0	0	0	0	1	0	0	0	2763	835	29	3		3	CDC20B	5	55146649	Missense_Mutation	SNP	C	C3L-01924_TP	14107783	55146649	126391610	187	8502											
MAP1B	0	.	GRCh38	chr5	72194811	72194811	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgcggagaaaatcatcCgagtcctgtttcctgggaac	10	9	10	12	2	1	1	1	0	0	1	4	4	4	2	4	2	2	1	4	2	3	1	rs868169901		C3L-01924_TP	C3L-01924_NB	C	C																c.1456C>T	p.Arg486Ter	p.R486*	ENST00000296755	5/7	214	157	57	224	224	0	strelka-varscan-mutect	MAP1B,stop_gained,p.Arg486Ter,ENST00000296755,NM_001324255.1,NM_005909.3;MAP1B,stop_gained,p.Arg360Ter,ENST00000504492,;MAP1B,stop_gained,p.Arg503Ter,ENST00000511641,;MAP1B,3_prime_UTR_variant,,ENST00000513526,;	T	ENST00000296755	Transcript	stop_gained	1754/12036	1456/7407	486/2468	R/*	Cga/Tga	rs868169901,COSM1695858	1		1	MAP1B	HGNC	HGNC:6836	protein_coding	YES	CCDS4012.1	ENSP00000296755	P46821		UPI000013E382	NM_001324255.1,NM_005909.3			5/7		hmmpanther:PTHR13843:SF5,hmmpanther:PTHR13843											0,1						HIGH	1	SNV	2		0,1	1										PASS		rs868169901	.												T	4	4	29	72194811	72194811	C	T	1	0	0	0	0	0	1	0	0	9151	644	23	1		1	MAP1B	5	72194811	Nonsense_Mutation	SNP	C	C3L-01924_TP	17048162	72194811	109343448	188	8503											
HAPLN1	0	.	GRCh38	chr5	83673488	83673488	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagatgatcagcccagcaGattgaaatcagcaccagaag	17	5	10	9	0	2	5	2	2	0	3	2	6	2	5	2	0	3	2	2	0	3	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.36C>A	p.=	p.I12I	ENST00000274341	2/5	197	148	49	229	229	0	strelka-varscan-mutect	HAPLN1,synonymous_variant,p.=,ENST00000274341,NM_001884.3;HAPLN1,synonymous_variant,p.=,ENST00000514416,;HAPLN1,synonymous_variant,p.=,ENST00000510978,;HAPLN1,synonymous_variant,p.=,ENST00000504713,;HAPLN1,synonymous_variant,p.=,ENST00000508307,;HAPLN1,synonymous_variant,p.=,ENST00000503117,;HAPLN1,synonymous_variant,p.=,ENST00000515590,;	T	ENST00000274341	Transcript	synonymous_variant	887/5607	36/1065	12/354	I	atC/atA		1		-1	HAPLN1	HGNC	HGNC:2380	protein_coding	YES	CCDS4061.1	ENSP00000274341	P10915	A0A024RAK9	UPI0000131BFF	NM_001884.3			2/5		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR22804:SF10,hmmpanther:PTHR22804																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	83673488	83673488	G	T	1	0	0	0	0	0	0	0	1	6840	932	33	2		2	HAPLN1	5	83673488	Silent	SNP	G	C3L-01924_TP	11478677	83673488	97864771	189	8504											
PCSK1	0	.	GRCh38	chr5	96393216	96393216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggacttctttggtgattGctttggcggtgagtttttac	4	18	14	5	1	1	2	0	2	1	0	1	3	1	3	0	5	2	2	0	5	1	7	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2047C>A	p.Gln683Lys	p.Q683K	ENST00000311106	14/14	161	138	23	226	226	0	strelka-varscan-mutect	PCSK1,missense_variant,p.Gln683Lys,ENST00000311106,NM_000439.4;PCSK1,missense_variant,p.Gln636Lys,ENST00000508626,NM_001177875.1;CTD-2337A12.1,intron_variant,,ENST00000502645,;PCSK1,non_coding_transcript_exon_variant,,ENST00000513085,;	T	ENST00000311106	Transcript	missense_variant	2285/5086	2047/2262	683/753	Q/K	Caa/Aaa		1		-1	PCSK1	HGNC	HGNC:8743	protein_coding	YES	CCDS4081.1	ENSP00000308024	P29120		UPI000013F0F5	NM_000439.4	tolerated_low_confidence(0.23)		14/14		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	96393216	96393216	G	T	1	0	0	0	0	1	0	0	0	11688	1328	46	2		2	PCSK1	5	96393216	Missense_Mutation	SNP	G	C3L-01924_TP	12719728	96393216	85145043	190	8505											
TSLP	0	.	GRCh38	chr5	111071952	111071952	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaatcttcatcttacAacttgtagggctggtgttaa	12	13	9	7	0	3	0	1	0	2	0	3	1	3	1	0	3	2	3	0	3	6	5	rs144616951		C3L-01924_TP	C3L-01924_NB	A	A																c.62A>T	p.Gln21Leu	p.Q21L	ENST00000344895	1/4	133	106	27	182	182	0	strelka-varscan-mutect	TSLP,missense_variant,p.Gln21Leu,ENST00000420978,;TSLP,missense_variant,p.Gln21Leu,ENST00000344895,NM_033035.4;TSLP,upstream_gene_variant,,ENST00000379706,NM_138551.4;CTC-551A13.2,downstream_gene_variant,,ENST00000507269,;	T	ENST00000344895	Transcript	missense_variant	261/736	62/480	21/159	Q/L	cAa/cTa	rs144616951	1		1	TSLP	HGNC	HGNC:30743	protein_coding	YES	CCDS4101.1	ENSP00000339804	Q969D9		UPI000006DB21	NM_033035.4	deleterious(0)		1/4		hmmpanther:PTHR38003																	MODERATE	1	SNV	1			1										PASS		rs144616951	.												T	3	4	29	111071952	111071952	A	T	1	0	0	0	0	1	0	0	0	17133	130	5	4		4	TSLP	5	111071952	Missense_Mutation	SNP	A	C3L-01924_TP	14678736	111071952	70466307	191	8506											
CDO1	0	.	GRCh38	chr5	115811305	115811305	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgggagttggtatgatCatgaatactgctatatgtac	11	13	12	5	0	1	2	1	2	0	0	1	3	1	3	0	2	3	5	0	2	6	6	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.259G>T	p.Asp87Tyr	p.D87Y	ENST00000250535	3/5	108	93	15	147	147	0	strelka-varscan-mutect	CDO1,missense_variant,p.Asp87Tyr,ENST00000250535,NM_001801.2;CDO1,non_coding_transcript_exon_variant,,ENST00000502631,;CDO1,downstream_gene_variant,,ENST00000504613,;CDO1,downstream_gene_variant,,ENST00000504877,;	A	ENST00000250535	Transcript	missense_variant	816/1860	259/603	87/200	D/Y	Gat/Tat		1		-1	CDO1	HGNC	HGNC:1795	protein_coding	YES	CCDS4121.1	ENSP00000250535	Q16878		UPI000016A7B9	NM_001801.2	deleterious(0)		3/5		Gene3D:2.60.120.10,Pfam_domain:PF05995,hmmpanther:PTHR12918,Superfamily_domains:SSF51182																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	115811305	115811305	C	A	1	0	0	0	0	1	0	0	0	2873	826	29	2		2	CDO1	5	115811305	Missense_Mutation	SNP	C	C3L-01924_TP	4739353	115811305	65726954	192	8507											
FBN2	0	.	GRCh38	chr5	128376766	128376766	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catttggagccaagacaaatCctggtttgcagatgcacttg	11	11	10	9	0	0	2	0	0	0	2	1	3	1	3	2	2	3	3	2	2	2	3			C3L-01924_TP	C3L-01924_NB	C	C																c.1937G>T	p.Gly646Val	p.G646V	ENST00000508053	20/71	458	387	71	571	570	1	strelka-varscan-mutect	FBN2,missense_variant,p.Gly646Val,ENST00000508053,;FBN2,missense_variant,p.Gly646Val,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Gly645Val,ENST00000619499,;FBN2,missense_variant,p.Gly613Val,ENST00000508989,;FBN2,non_coding_transcript_exon_variant,,ENST00000511489,;	A	ENST00000508053	Transcript	missense_variant	2912/11132	1937/8739	646/2912	G/V	gGa/gTa	COSM4891127,COSM4891128	1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		deleterious(0)		20/71		Gene3D:2.10.25.10,Pfam_domain:PF12662,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	29	128376766	128376766	C	A	1	0	0	0	0	1	0	0	0	5566	855	30	2		2	FBN2	5	128376766	Missense_Mutation	SNP	C	C3L-01924_TP	12565461	128376766	53161493	193	8508											
FBN2	0	.	GRCh38	chr5	128527958	128527958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattcatgcatctcacactgCactgctgaactgcaaagagc	12	9	7	13	0	2	2	2	1	1	1	3	2	2	2	0	0	6	4	0	0	2	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.446G>T	p.Cys149Phe	p.C149F	ENST00000508053	10/71	285	258	27	371	371	0	strelka-varscan-mutect	FBN2,missense_variant,p.Cys149Phe,ENST00000508053,;FBN2,missense_variant,p.Cys149Phe,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Cys149Phe,ENST00000619499,;FBN2,missense_variant,p.Cys116Phe,ENST00000508989,;FBN2,missense_variant,p.Cys149Phe,ENST00000502468,;FBN2,non_coding_transcript_exon_variant,,ENST00000514742,;	A	ENST00000508053	Transcript	missense_variant	1421/11132	446/8739	149/2912	C/F	tGc/tTc		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		deleterious(0)		10/71		PIRSF_domain:PIRSF036312,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00181																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	128527958	128527958	C	A	1	0	0	0	0	1	0	0	0	5566	710	25	2		2	FBN2	5	128527958	Missense_Mutation	SNP	C	C3L-01924_TP	151192	128527958	53010301	194	8509											
SPOCK1	0	.	GRCh38	chr5	136979393	136979393	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcccatatttgtccacacaCcagcactgccccgtgctgcc	7	10	6	18	1	0	0	0	0	0	0	2	0	2	0	6	0	4	2	6	0	1	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1068G>T	p.Trp356Cys	p.W356C	ENST00000394945	10/11	227	172	55	224	224	0	strelka-varscan-mutect	SPOCK1,missense_variant,p.Trp356Cys,ENST00000394945,NM_004598.3;SPOCK1,missense_variant,p.Trp294Cys,ENST00000282223,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000509978,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000515091,;	A	ENST00000394945	Transcript	missense_variant	1238/4846	1068/1320	356/439	W/C	tgG/tgT		1		-1	SPOCK1	HGNC	HGNC:11251	protein_coding	YES	CCDS4191.1	ENSP00000378401	Q08629		UPI0000136F50	NM_004598.3	deleterious(0)		10/11		Gene3D:4.10.800.10,Pfam_domain:PF00086,PROSITE_patterns:PS00484,PROSITE_profiles:PS51162,hmmpanther:PTHR22118,hmmpanther:PTHR22118:SF9,SMART_domains:SM00211,Superfamily_domains:SSF57610																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	136979393	136979393	C	A	1	0	0	0	0	1	0	0	0	15432	508	18	2		2	SPOCK1	5	136979393	Missense_Mutation	SNP	C	C3L-01924_TP	8451435	136979393	44558866	195	8510											
PCDHA1	0	.	GRCh38	chr5	140788330	140788330	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgccaaaggcgtcttcGcgggcgtcggtgggtgtcgc	4	7	18	12	7	1	0	0	0	1	0	4	0	1	0	1	5	0	0	1	5	1	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2040G>T	p.=	p.S680S	ENST00000504120	1/4	249	186	63	301	301	0	strelka-varscan-mutect	PCDHA1,synonymous_variant,p.=,ENST00000504120,NM_018900.3;PCDHA1,synonymous_variant,p.=,ENST00000378133,NM_031410.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,downstream_gene_variant,,ENST00000624712,;AC005609.16,downstream_gene_variant,,ENST00000624176,;	T	ENST00000504120	Transcript	synonymous_variant	2040/5263	2040/2853	680/950	S	tcG/tcT		1		1	PCDHA1	HGNC	HGNC:8663	protein_coding	YES	CCDS54913.1	ENSP00000420840	Q9Y5I3		UPI00001273C7	NM_018900.3			1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	140788330	140788330	G	T	1	0	0	0	0	0	0	0	1	11606	1074	38	1		1	PCDHA1	5	140788330	Silent	SNP	G	C3L-01924_TP	3808937	140788330	40749929	196	8511											
PCDHA1	0	.	GRCh38	chr5	140788696	140788696	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggtaatgtaagtccaacTttcgagttttggctttaaat	10	17	8	6	1	1	0	0	0	1	0	3	1	2	0	1	2	1	4	1	2	5	7	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.2406T>A	p.=	p.T802T	ENST00000378133	1/1	39	29	10	55	55	0	strelka-varscan-mutect	PCDHA1,synonymous_variant,p.=,ENST00000378133,NM_031410.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,non_coding_transcript_exon_variant,,ENST00000624712,;AC005609.16,downstream_gene_variant,,ENST00000624176,;	A	ENST00000378133	Transcript	synonymous_variant	2561/2726	2406/2424	802/807	T	acT/acA		1		1	PCDHA1	HGNC	HGNC:8663	protein_coding			ENSP00000367373	Q9Y5I3		UPI000002A611	NM_031410.2			1/1																			LOW		SNV				1										PASS		.	.												A	2	1	29	140788696	140788696	T	A	1	0	0	0	0	0	0	0	1	11606	1596	56	4		4	PCDHA1	5	140788696	Silent	SNP	T	C3L-01924_TP	366	140788696	40749563	197	8512											
PCDHA11	0	.	GRCh38	chr5	140870720	140870720	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgagcgcgcgcgatgcGggcgtgccgcctctgagcag	5	5	18	13	7	1	2	0	2	1	0	1	3	1	2	2	2	4	1	2	2	0	0	rs544150374		C3L-01924_TP	C3L-01924_NB	G	G																c.1617G>T	p.=	p.A539A	ENST00000398640	1/4	660	495	165	703	702	1	strelka-varscan-mutect	PCDHA11,synonymous_variant,p.=,ENST00000398640,NM_018902.4;PCDHA11,synonymous_variant,p.=,ENST00000616325,NM_031861.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA10,downstream_gene_variant,,ENST00000562220,NM_031859.2;PCDHA12,upstream_gene_variant,,ENST00000398631,NM_018903.3;PCDHA12,upstream_gene_variant,,ENST00000613593,NM_031864.2;PCDHA11,upstream_gene_variant,,ENST00000617408,;AC005609.18,downstream_gene_variant,,ENST00000624566,;AC005609.20,upstream_gene_variant,,ENST00000625071,;	T	ENST00000398640	Transcript	synonymous_variant	2475/6115	1617/2850	539/949	A	gcG/gcT	rs544150374	1		1	PCDHA11	HGNC	HGNC:8665	protein_coding	YES	CCDS47284.1	ENSP00000381636	Q9Y5I1		UPI00001273D4	NM_018902.4			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs544150374	.												T	2	4	29	140870720	140870720	G	T	1	0	0	0	0	0	0	0	1	11608	1103	39	1		1	PCDHA11	5	140870720	Silent	SNP	G	C3L-01924_TP	82024	140870720	40667539	198	8513											
PCDHB7	0	.	GRCh38	chr5	141175012	141175012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggtcgctgctcggtgcCtgagggcccctttccacgac	3	9	15	14	3	0	1	0	1	0	0	3	2	1	1	4	4	2	2	4	4	0	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2177C>A	p.Pro726His	p.P726H	ENST00000231137	1/1	220	158	62	263	262	1	strelka-varscan-mutect	PCDHB7,missense_variant,p.Pro726His,ENST00000231137,NM_018940.3;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.4;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,upstream_gene_variant,,ENST00000625128,;AC005754.7,upstream_gene_variant,,ENST00000624802,;CH17-140K24.4,upstream_gene_variant,,ENST00000623995,;	A	ENST00000231137	Transcript	missense_variant	2394/3765	2177/2382	726/793	P/H	cCt/cAt		1		1	PCDHB7	HGNC	HGNC:8692	protein_coding	YES	CCDS4249.1	ENSP00000231137	Q9Y5E2		UPI00001273E3	NM_018940.3	deleterious_low_confidence(0)		1/1		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69																	MODERATE		SNV				1										PASS		.	.												A	3	1	29	141175012	141175012	C	A	1	0	0	0	0	1	0	0	0	11634	681	24	2		2	PCDHB7	5	141175012	Missense_Mutation	SNP	C	C3L-01924_TP	304292	141175012	40363247	199	8514											
PCDHB8	0	.	GRCh38	chr5	141179826	141179826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcggtggacggcgactcgGgccagaacgcctggctgtcg	5	6	18	12	6	0	1	0	0	0	1	2	3	0	2	2	6	1	1	2	6	1	0	rs782362169		C3L-01924_TP	C3L-01924_NB	G	G																c.1792G>T	p.Gly598Cys	p.G598C	ENST00000239444	1/1	308	251	57	311	310	1	strelka-varscan-mutect	PCDHB8,missense_variant,p.Gly598Cys,ENST00000239444,NM_019120.4;PCDHB16,upstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.3;PCDHB16,upstream_gene_variant,,ENST00000625044,;CH17-140K24.5,upstream_gene_variant,,ENST00000623884,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,downstream_gene_variant,,ENST00000624549,;CH17-140K24.7,downstream_gene_variant,,ENST00000624089,;CH17-140K24.4,intron_variant,,ENST00000623995,;CH17-140K24.5,upstream_gene_variant,,ENST00000623407,;	T	ENST00000239444	Transcript	missense_variant	2037/2740	1792/2406	598/801	G/C	Ggc/Tgc	rs782362169	1		1	PCDHB8	HGNC	HGNC:8693	protein_coding	YES	CCDS4250.1	ENSP00000239444	Q9UN66		UPI000192C41A	NM_019120.4	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		rs782362169	.												T	3	4	29	141179826	141179826	G	T	1	0	0	0	0	1	0	0	0	11635	1232	43	2		2	PCDHB8	5	141179826	Missense_Mutation	SNP	G	C3L-01924_TP	4814	141179826	40358433	200	8515											
PCDHB10	0	.	GRCh38	chr5	141194796	141194796	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggggcgctgagaccctgtcCcagagctaccagtatgaggt	9	7	14	11	1	0	3	0	2	0	2	1	4	1	3	3	3	2	3	3	3	2	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2244C>A	p.=	p.S748S	ENST00000239446	1/1	213	186	27	236	235	1	strelka-varscan-mutect	PCDHB10,synonymous_variant,p.=,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,NM_019119.4;PCDHB11,upstream_gene_variant,,ENST00000354757,NM_018931.2;PCDHB11,upstream_gene_variant,,ENST00000624887,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.6,upstream_gene_variant,,ENST00000625144,;	A	ENST00000239446	Transcript	synonymous_variant	2444/3290	2244/2403	748/800	S	tcC/tcA		1		1	PCDHB10	HGNC	HGNC:8681	protein_coding	YES	CCDS4252.1	ENSP00000239446	Q9UN67		UPI0000048F2E	NM_018930.3			1/1		hmmpanther:PTHR24028:SF54,hmmpanther:PTHR24028,Pfam_domain:PF16492																	LOW		SNV				1										PASS		.	.												A	2	1	29	141194796	141194796	C	A	1	0	0	0	0	0	0	0	1	11622	610	22	2		2	PCDHB10	5	141194796	Silent	SNP	C	C3L-01924_TP	14970	141194796	40343463	201	8516											
PCDHB14	0	.	GRCh38	chr5	141223530	141223530	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcagaggggcactcgatCtgcgaaaaaggcaagttcta	14	7	12	8	2	3	2	1	0	2	2	4	4	3	2	0	3	1	3	0	3	4	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.25C>A	p.Leu9Met	p.L9M	ENST00000239449	1/1	66	60	6	104	103	1	strelka-varscan-mutect	PCDHB14,missense_variant,p.Leu9Met,ENST00000239449,NM_018934.3;CH17-140K24.8,missense_variant,p.Leu9Met,ENST00000624396,;PCDHB14,5_prime_UTR_variant,,ENST00000624896,;PCDHB13,downstream_gene_variant,,ENST00000341948,NM_018933.3;CH17-140K24.2,intron_variant,,ENST00000624192,;	A	ENST00000239449	Transcript	missense_variant	599/4828	25/2397	9/798	L/M	Ctg/Atg		1		1	PCDHB14	HGNC	HGNC:8685	protein_coding	YES	CCDS4256.1	ENSP00000239449	Q9Y5E9		UPI00001273E7	NM_018934.3	tolerated_low_confidence(0.22)		1/1		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE		SNV				1										PASS		rs1301560778	.												A	3	1	29	141223530	141223530	C	A	1	0	0	0	0	1	0	0	0	11626	912	32	2		2	PCDHB14	5	141223530	Missense_Mutation	SNP	C	C3L-01924_TP	28734	141223530	40314729	202	8517											
PCDHGB1	0	.	GRCh38	chr5	141350773	141350773	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttatacaccatcaacccCaatcaatacttctctctgtc	13	12	2	14	0	4	0	2	0	2	0	6	0	4	0	3	0	3	1	3	0	7	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.513C>T	p.=	p.P171P	ENST00000523390	1/4	250	186	64	307	307	0	strelka-varscan-mutect	PCDHGB1,synonymous_variant,p.=,ENST00000523390,NM_018922.2;PCDHGB1,synonymous_variant,p.=,ENST00000611598,NM_032095.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA4,upstream_gene_variant,,ENST00000571252,NM_018917.3;PCDHGA3,downstream_gene_variant,,ENST00000619750,NM_032011.1;PCDHGA4,upstream_gene_variant,,ENST00000612927,NM_032053.2;AC005618.8,upstream_gene_variant,,ENST00000625053,;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000523390	Transcript	synonymous_variant	513/4590	513/2784	171/927	P	ccC/ccT		1		1	PCDHGB1	HGNC	HGNC:8708	protein_coding	YES	CCDS54923.1	ENSP00000429273	Q9Y5G3		UPI0000073588	NM_018922.2			1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	141350773	141350773	C	T	1	0	0	0	0	0	0	0	1	11649	581	21	3		3	PCDHGB1	5	141350773	Silent	SNP	C	C3L-01924_TP	127243	141350773	40187486	203	8518											
PCDHGB2	0	.	GRCh38	chr5	141362089	141362089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtgcgtgatggaggacagCcgccactctccgctacggcc	6	7	13	15	4	1	1	0	1	1	0	2	3	1	3	4	3	3	1	4	3	1	1			C3L-01924_TP	C3L-01924_NB	C	C																c.1954C>A	p.Pro652Thr	p.P652T	ENST00000522605	1/4	319	242	77	376	376	0	strelka-varscan-mutect	PCDHGB2,missense_variant,p.Pro652Thr,ENST00000522605,NM_018923.2;PCDHGB2,missense_variant,p.Pro652Thr,ENST00000622527,NM_032096.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA5,upstream_gene_variant,,ENST00000518069,NM_018918.2;PCDHGA5,upstream_gene_variant,,ENST00000611914,NM_032054.1;PCDHGA4,downstream_gene_variant,,ENST00000612927,NM_032053.2;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000522605	Transcript	missense_variant	1954/4602	1954/2796	652/931	P/T	Ccg/Acg	COSM1434431,COSM5093035	1		1	PCDHGB2	HGNC	HGNC:8709	protein_coding	YES	CCDS54924.1	ENSP00000429018	Q9Y5G2		UPI000006EE67	NM_018923.2	deleterious(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF73,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	29	141362089	141362089	C	A	1	0	0	0	0	1	0	0	0	11650	739	26	2		2	PCDHGB2	5	141362089	Missense_Mutation	SNP	C	C3L-01924_TP	11316	141362089	40176170	204	8519											
PCDHGA7	0	.	GRCh38	chr5	141384141	141384141	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacttggaccgggaaacActctctttgtataacatcac	15	10	6	10	1	2	0	1	0	1	0	3	2	2	2	1	2	3	1	1	2	5	4	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.1242A>T	p.=	p.T414T	ENST00000518325	1/4	218	193	25	233	232	1	strelka-varscan-mutect	PCDHGA7,synonymous_variant,p.=,ENST00000518325,NM_018920.3;PCDHGA7,synonymous_variant,p.=,ENST00000617050,NM_032087.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA6,downstream_gene_variant,,ENST00000610583,NM_032086.1;PCDHGB4,upstream_gene_variant,,ENST00000615384,NM_032098.1;PCDHGB4,upstream_gene_variant,,ENST00000519479,NM_003736.2;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000518325	Transcript	synonymous_variant	1242/4605	1242/2799	414/932	T	acA/acT		1		1	PCDHGA7	HGNC	HGNC:8705	protein_coding	YES	CCDS54927.1	ENSP00000430024	Q9Y5G6		UPI000007146F	NM_018920.3			1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF56,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs765902130	.												T	2	4	29	141384141	141384141	A	T	1	0	0	0	0	0	0	0	1	11646	146	6	4		4	PCDHGA7	5	141384141	Silent	SNP	A	C3L-01924_TP	22052	141384141	40154118	205	8520											
PCDHGB6	0	.	GRCh38	chr5	141408409	141408409	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcgcaagctgcgagtgagCgcggagaagctgcacttcag	9	6	15	11	4	1	2	1	1	0	1	2	4	1	2	0	1	5	5	0	1	2	1	rs780778580		C3L-01924_TP	C3L-01924_NB	C	C																c.207C>A	p.Ser69Arg	p.S69R	ENST00000520790	1/4	212	163	49	325	325	0	strelka-varscan-mutect	PCDHGB6,missense_variant,p.Ser69Arg,ENST00000616430,NM_032100.1;PCDHGB6,missense_variant,p.Ser69Arg,ENST00000520790,NM_018926.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGA10,upstream_gene_variant,,ENST00000398610,NM_018913.2;PCDHGA10,upstream_gene_variant,,ENST00000612503,NM_032090.1;PCDHGA9,downstream_gene_variant,,ENST00000616887,NM_032089.1;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000520790	Transcript	missense_variant	207/4599	207/2793	69/930	S/R	agC/agA	rs780778580	1		1	PCDHGB6	HGNC	HGNC:8713	protein_coding	YES	CCDS54929.1	ENSP00000428603	Q9Y5F9		UPI000006EB47	NM_018926.2	tolerated(0.23)		1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF66,Pfam_domain:PF08266,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs780778580	.												A	3	1	29	141408409	141408409	C	A	1	0	0	0	0	1	0	0	0	11654	767	27	1		1	PCDHGB6	5	141408409	Missense_Mutation	SNP	C	C3L-01924_TP	24268	141408409	40129850	206	8521											
PCDHGA1	0	.	GRCh38	chr5	141511028	141511028	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacggaccccagttcacccTgcagcacgtgcccgactacc	8	6	8	19	3	1	0	1	0	0	0	1	2	1	1	5	1	5	3	5	1	2	3	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.2744T>A	p.Leu915Gln	p.L915Q	ENST00000571252	4/4	442	385	57	436	436	0	strelka-varscan-mutect	PCDHGA4,missense_variant,p.Leu915Gln,ENST00000571252,NM_018917.3;PCDHGA6,missense_variant,p.Leu885Gln,ENST00000517434,NM_018919.2;PCDHGA3,missense_variant,p.Leu885Gln,ENST00000253812,NM_018916.3;PCDHGB7,missense_variant,p.Leu882Gln,ENST00000398594,NM_018927.3;PCDHGC5,missense_variant,p.Leu897Gln,ENST00000252087,NM_018929.2;PCDHGA12,missense_variant,p.Leu885Gln,ENST00000252085,NM_003735.2;PCDHGB3,missense_variant,p.Leu882Gln,ENST00000576222,NM_018924.4;PCDHGC3,missense_variant,p.Leu887Gln,ENST00000308177,NM_002588.3;PCDHGA11,missense_variant,p.Leu888Gln,ENST00000398587,NM_018914.2;PCDHGC4,missense_variant,p.Leu891Gln,ENST00000306593,NM_018928.2;PCDHGA10,missense_variant,p.Leu889Gln,ENST00000398610,NM_018913.2;PCDHGA2,missense_variant,p.Leu885Gln,ENST00000394576,NM_018915.3;PCDHGA8,missense_variant,p.Leu885Gln,ENST00000398604,NM_032088.1;PCDHGA7,missense_variant,p.Leu885Gln,ENST00000518325,NM_018920.3;PCDHGA9,missense_variant,p.Leu885Gln,ENST00000573521,NM_018921.2;PCDHGA1,missense_variant,p.Leu884Gln,ENST00000517417,NM_018912.2;PCDHGA5,missense_variant,p.Leu884Gln,ENST00000518069,NM_018918.2;PCDHGB2,missense_variant,p.Leu884Gln,ENST00000522605,NM_018923.2;PCDHGB6,missense_variant,p.Leu883Gln,ENST00000520790,NM_018926.2;PCDHGB1,missense_variant,p.Leu880Gln,ENST00000523390,NM_018922.2;PCDHGB4,missense_variant,p.Leu876Gln,ENST00000519479,NM_003736.2;PCDHGB5,missense_variant,p.Leu876Gln,ENST00000617380,NM_018925.2;PCDHGC3,missense_variant,p.Leu87Gln,ENST00000617641,NM_032403.2;PCDHGA11,missense_variant,p.Leu703Gln,ENST00000518882,NM_032092.1;PCDHGC4,missense_variant,p.Leu81Gln,ENST00000618371,;PCDHGC3,missense_variant,p.Leu138Gln,ENST00000617222,;DIAPH1,downstream_gene_variant,,ENST00000389054,NM_005219.4;DIAPH1,downstream_gene_variant,,ENST00000253811,;DIAPH1,downstream_gene_variant,,ENST00000398557,;DIAPH1,downstream_gene_variant,,ENST00000389057,;DIAPH1,downstream_gene_variant,,ENST00000518047,NM_001079812.2;DIAPH1,downstream_gene_variant,,ENST00000448451,;PCDHGC3,non_coding_transcript_exon_variant,,ENST00000622836,;PCDHGC3,downstream_gene_variant,,ENST00000622656,;PCDHGA3,3_prime_UTR_variant,,ENST00000612467,;DIAPH1,downstream_gene_variant,,ENST00000476339,;	A	ENST00000571252	Transcript	missense_variant	2827/4778	2744/2889	915/962	L/Q	cTg/cAg		1		1	PCDHGA4	HGNC	HGNC:8702	protein_coding	YES	CCDS58979.2	ENSP00000458570		A0A087WT05	UPI0003583741	NM_018917.3	deleterious_low_confidence(0)		4/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF94,Pfam_domain:PF15974																	MODERATE	1	SNV	1			1										PASS		rs1279056657	.												A	3	1	29	141511028	141511028	T	A	1	0	0	0	0	1	0	0	0	11637	1580	55	4		4	PCDHGA1	5	141511028	Missense_Mutation	SNP	T	C3L-01924_TP	102619	141511028	40027231	207	8522											
FAM71B	0	.	GRCh38	chr5	157165752	157165752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgagtttcaggcgcagCtgctgtttctcatgatcgtg	5	13	14	9	3	2	1	2	1	1	0	4	2	2	1	0	2	2	5	0	2	0	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.417G>T	p.Gln139His	p.Q139H	ENST00000302938	1/2	202	150	52	237	236	1	strelka-varscan-mutect	FAM71B,missense_variant,p.Gln139His,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;	A	ENST00000302938	Transcript	missense_variant	513/2515	417/1818	139/605	Q/H	caG/caT		1		-1	FAM71B	HGNC	HGNC:28397	protein_coding	YES	CCDS4335.1	ENSP00000305596	Q8TC56	A0A140VJJ4	UPI000006F9DC	NM_130899.2	deleterious(0.01)		1/2		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2,Pfam_domain:PF12480																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	157165752	157165752	C	A	1	0	0	0	0	1	0	0	0	5472	796	28	2		2	FAM71B	5	157165752	Missense_Mutation	SNP	C	C3L-01924_TP	15654724	157165752	24372507	208	8523											
ATP10B	0	.	GRCh38	chr5	160612866	160612866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctggatcccagcctcccGcagagtggcaatcgtatctg	8	8	12	13	2	1	1	0	0	1	1	4	3	3	2	3	2	2	4	3	2	2	1	rs760610785		C3L-01924_TP	C3L-01924_NB	G	G																c.2713C>T	p.Arg905Trp	p.R905W	ENST00000327245	18/26	154	113	41	179	179	0	strelka-varscan-mutect	ATP10B,missense_variant,p.Arg905Trp,ENST00000327245,NM_025153.2;ATP10B,missense_variant,p.Arg513Trp,ENST00000520108,;CTC-348L5.1,upstream_gene_variant,,ENST00000523598,;ATP10B,non_coding_transcript_exon_variant,,ENST00000522169,;	A	ENST00000327245	Transcript	missense_variant	3560/7566	2713/4386	905/1461	R/W	Cgg/Tgg	rs760610785	1		-1	ATP10B	HGNC	HGNC:13543	protein_coding	YES	CCDS43394.1	ENSP00000313600	O94823		UPI0000191DAE	NM_025153.2	deleterious(0)		18/26		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF79,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01652,Superfamily_domains:SSF56784																	MODERATE	1	SNV	1			1										PASS		rs760610785	.												A	3	1	29	160612866	160612866	G	A	1	0	0	0	0	1	0	0	0	1269	1086	38	1		1	ATP10B	5	160612866	Missense_Mutation	SNP	G	C3L-01924_TP	3447114	160612866	20925393	209	8524											
F12	0	.	GRCh38	chr5	177405178	177405178	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagaagctgaggctcaaaGcacttctctggggacaaaga	13	6	13	9	1	2	3	1	1	1	2	3	5	2	4	0	4	2	3	0	4	3	1			C3L-01924_TP	C3L-01924_NB	G	G																c.405C>T	p.=	p.C135C	ENST00000253496	6/14	447	329	118	537	537	0	strelka-varscan-mutect	F12,synonymous_variant,p.=,ENST00000253496,NM_000505.3;GRK6,intron_variant,,ENST00000506296,;GRK6,intron_variant,,ENST00000502598,;PFN3,upstream_gene_variant,,ENST00000358571,NM_001029886.2;F12,upstream_gene_variant,,ENST00000514943,;F12,upstream_gene_variant,,ENST00000510358,;F12,upstream_gene_variant,,ENST00000502854,;F12,upstream_gene_variant,,ENST00000504406,;F12,upstream_gene_variant,,ENST00000503736,;	A	ENST00000253496	Transcript	synonymous_variant	454/2049	405/1848	135/615	C	tgC/tgT	CM102609	1		-1	F12	HGNC	HGNC:3530	protein_coding	YES	CCDS34302.1	ENSP00000253496	P00748		UPI000048055F	NM_000505.3			6/14		Gene3D:2.10.25.10,Pfam_domain:PF00039,PIRSF_domain:PIRSF001146,PROSITE_patterns:PS01253,PROSITE_profiles:PS51091,SMART_domains:SM00058																	LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	29	177405178	177405178	G	A	1	0	0	0	0	0	0	0	1	5207	963	34	3		3	F12	5	177405178	Silent	SNP	G	C3L-01924_TP	16792312	177405178	4133081	210	8525											
ADAMTS2	0	.	GRCh38	chr5	179154817	179154817	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccaggccacttacacgTggccagtctcatgggccacc	7	8	9	17	1	1	0	1	0	1	0	3	0	2	0	6	3	1	0	6	3	1	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1235A>T	p.His412Leu	p.H412L	ENST00000251582	7/22	133	125	8	142	142	0	strelka-mutect	ADAMTS2,missense_variant,p.His412Leu,ENST00000251582,NM_014244.4;ADAMTS2,missense_variant,p.His412Leu,ENST00000274609,NM_021599.2;	A	ENST00000251582	Transcript	missense_variant	1337/6754	1235/3636	412/1211	H/L	cAc/cTc		1		-1	ADAMTS2	HGNC	HGNC:218	protein_coding	YES	CCDS4444.1	ENSP00000251582	O95450		UPI00001AE729	NM_014244.4	deleterious(0)		7/22		PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	179154817	179154817	T	A	1	0	0	0	0	1	0	0	0	309	1710	59	4		4	ADAMTS2	5	179154817	Missense_Mutation	SNP	T	C3L-01924_TP	1749639	179154817	2383442	211	8526											
HIST1H3D	0	.	GRCh38	chr6	26196901	26196901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgggcatgatagtcactCgcttggcgtgaatggcgcat	7	11	13	10	3	1	2	1	2	0	0	2	2	1	2	1	3	0	3	1	3	2	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.350G>A	p.Arg117Gln	p.R117Q	ENST00000356476	1/1	316	300	16	352	352	0	strelka-varscan-mutect	HIST1H3D,missense_variant,p.Arg117Gln,ENST00000356476,NM_003530.4;RP1-34B20.21,3_prime_UTR_variant,,ENST00000635200,;HIST1H2BF,upstream_gene_variant,,ENST00000356530,NM_003522.3;HIST1H2AD,downstream_gene_variant,,ENST00000341023,NM_021065.3;RP1-34B20.21,3_prime_UTR_variant,,ENST00000635641,;HIST1H1PS1,downstream_gene_variant,,ENST00000404269,;	T	ENST00000356476	Transcript	missense_variant	350/411	350/411	117/136	R/Q	cGa/cAa		1		-1	HIST1H3D	HGNC	HGNC:4767	protein_coding	YES	CCDS4590.1	ENSP00000366999	P68431		UPI00000003C7	NM_003530.4	deleterious_low_confidence(0)		1/1		Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,SMART_domains:SM00428,Superfamily_domains:SSF47113																	MODERATE		SNV				1										PASS		.	.												T	3	4	29	26196901	26196901	C	T	1	0	0	0	0	1	0	0	0	7046	884	31	1		1	HIST1H3D	6	26196901	Missense_Mutation	SNP	C	C3L-01924_TP		26196901	144609078	212	8527											
BTN3A2	0	.	GRCh38	chr6	26368799	26368799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgggatggcatcactgcagGgaaggctgctctccgaatac	9	7	14	11	2	2	0	1	0	1	0	3	3	2	2	1	4	3	4	1	4	3	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.320G>T	p.Gly107Val	p.G107V	ENST00000356386	4/11	208	169	39	219	219	0	varscan-mutect	BTN3A2,missense_variant,p.Gly65Val,ENST00000508906,NM_001197249.2;BTN3A2,missense_variant,p.Gly84Val,ENST00000396934,NM_001197248.2;BTN3A2,missense_variant,p.Gly107Val,ENST00000356386,NM_007047.4,NM_001197247.2,NM_001197246.2;BTN3A2,missense_variant,p.Gly107Val,ENST00000377708,;BTN3A2,missense_variant,p.Gly107Val,ENST00000396948,;BTN3A2,missense_variant,p.Gly107Val,ENST00000527422,;BTN3A2,missense_variant,p.Gly65Val,ENST00000532865,;BTN3A2,missense_variant,p.Gly107Val,ENST00000527417,;BTN3A2,missense_variant,p.Gly65Val,ENST00000530653,;BTN3A2,upstream_gene_variant,,ENST00000527639,;BTN3A2,non_coding_transcript_exon_variant,,ENST00000532994,;BTN3A2,non_coding_transcript_exon_variant,,ENST00000524682,;BTN3A2,non_coding_transcript_exon_variant,,ENST00000532627,;BTN3A2,3_prime_UTR_variant,,ENST00000524459,;BTN3A2,upstream_gene_variant,,ENST00000604202,;BTN3A2,downstream_gene_variant,,ENST00000528222,;BTN3A2,upstream_gene_variant,,ENST00000531055,;BTN3A2,downstream_gene_variant,,ENST00000528541,;BTN3A2,upstream_gene_variant,,ENST00000532294,;	T	ENST00000356386	Transcript	missense_variant	508/3017	320/1005	107/334	G/V	gGg/gTg		1		1	BTN3A2	HGNC	HGNC:1139	protein_coding	YES	CCDS4605.1	ENSP00000348751	P78410		UPI000006E484	NM_007047.4,NM_001197247.2,NM_001197246.2	deleterious(0)		4/11		PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF70,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	29	26368799	26368799	G	T	1	0	0	0	0	1	0	0	0	1739	1232	43	2		2	BTN3A2	6	26368799	Missense_Mutation	SNP	G	C3L-01924_TP	171898	26368799	144437180	213	8528											
PRRC2A	0	.	GRCh38	chr6	31625835	31625835	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccgccctatggaccccAggggccttaccgatacccca	7	6	8	20	2	0	0	0	0	0	0	1	2	1	1	9	3	2	0	9	3	3	3	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.803A>T	p.Gln268Leu	p.Q268L	ENST00000376033	8/31	160	139	21	193	193	0	strelka-varscan-mutect	PRRC2A,missense_variant,p.Gln268Leu,ENST00000376033,NM_004638.3;PRRC2A,missense_variant,p.Gln268Leu,ENST00000376007,NM_080686.2;SNORA38,downstream_gene_variant,,ENST00000363946,;PRRC2A,non_coding_transcript_exon_variant,,ENST00000469577,;PRRC2A,non_coding_transcript_exon_variant,,ENST00000464890,;PRRC2A,upstream_gene_variant,,ENST00000483470,;PRRC2A,downstream_gene_variant,,ENST00000464079,;	T	ENST00000376033	Transcript	missense_variant	1037/6893	803/6474	268/2157	Q/L	cAg/cTg		1		1	PRRC2A	HGNC	HGNC:13918	protein_coding	YES	CCDS4708.1	ENSP00000365201	P48634		UPI000020E56F	NM_004638.3	deleterious(0.01)		8/31		Low_complexity_(Seg):seg,hmmpanther:PTHR14038:SF5,hmmpanther:PTHR14038																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	31625835	31625835	A	T	1	0	0	0	0	1	0	0	0	12748	188	7	4		4	PRRC2A	6	31625835	Missense_Mutation	SNP	A	C3L-01924_TP	5257036	31625835	139180144	214	8529											
C2	0	.	GRCh38	chr6	31928147	31928147	+	Frame_Shift_Del	DEL	C	C	-																															aggagccacccggtctctgtCtaaggcggtctgcaaacgtg																								novel		C3L-01924_TP	C3L-01924_NB	C	C																c.239delC	p.Ser80LeufsTer111	p.S80Lfs*111	ENST00000456570	2/30	307	272	35	357	357	0	sindel-varindel-pindel	XXbac-BPG116M5.17,frameshift_variant,p.Ser80LeufsTer111,ENST00000456570,;XXbac-BPG116M5.17,frameshift_variant,p.Ser80LeufsTer34,ENST00000477310,;C2,frameshift_variant,p.Ser80LeufsTer34,ENST00000299367,NM_001282458.1,NM_000063.5;C2,frameshift_variant,p.Ser80LeufsTer34,ENST00000418949,NM_001282459.1;C2,frameshift_variant,p.Ser80LeufsTer112,ENST00000447952,;C2,frameshift_variant,p.Ser80LeufsTer34,ENST00000413154,;C2,intron_variant,,ENST00000442278,NM_001145903.2;C2,intron_variant,,ENST00000452323,NM_001178063.2;C2,intron_variant,,ENST00000469372,NM_001282457.1;C2,intron_variant,,ENST00000383177,;C2,intron_variant,,ENST00000497706,;C2,intron_variant,,ENST00000452202,;C2,upstream_gene_variant,,ENST00000494905,;C2,frameshift_variant,p.Ser80LeufsTer683,ENST00000482060,;C2,intron_variant,,ENST00000411571,;C2,intron_variant,,ENST00000484636,;	-	ENST00000456570	Transcript	frameshift_variant	294/3874	239/3801	80/1266	S/X	tCt/tt		1		1	XXbac-BPG116M5.17	Clone_based_vega_gene		protein_coding	YES		ENSP00000410815		B4E1Z4	UPI00017A8869				2/30		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF394,Gene3D:2.10.70.10																	HIGH		deletion	2			1										PASS		.	.												-	7	5	29	31928147	31928147	C	-	1	0	1	0	1	0	0	0	0	2001	913	32	0		0	C2	6	31928147	Frame_Shift_Del	DEL	C	C3L-01924_TP	302312	31928147	138877832	215	8530											
HLA-DQB1	0	.	GRCh38	chr6	32661417	32661417	+	Silent	SNP	G	G	A																															cccagcacgaagcctccaacGccactcagcatcttgctctg																								rs9273650		C3L-01924_TP	C3L-01924_NB	G	G																c.702C>T	p.=	p.G234G	ENST00000374943	4/6	63	55	8	56	56	0	strelka-mutect	HLA-DQB1,synonymous_variant,p.=,ENST00000399084,;HLA-DQB1,synonymous_variant,p.=,ENST00000374943,NM_001243961.1;HLA-DQB1,synonymous_variant,p.=,ENST00000434651,NM_002123.4;HLA-DQB1,intron_variant,,ENST00000399079,;HLA-DQB1,intron_variant,,ENST00000399082,;HLA-DQB1-AS1,downstream_gene_variant,,ENST00000419852,;HLA-DQB1,intron_variant,,ENST00000443574,;HLA-DQB1,upstream_gene_variant,,ENST00000460185,;HLA-DQB1,3_prime_UTR_variant,,ENST00000484729,;HLA-DQB1,non_coding_transcript_exon_variant,,ENST00000487676,;	A	ENST00000374943	Transcript	synonymous_variant	779/1656	702/810	234/269	G	ggC/ggT	rs9273650	1		-1	HLA-DQB1	HGNC	HGNC:4944	protein_coding	YES	CCDS59006.1	ENSP00000364080		Q5SU54	UPI0000E5AD35	NM_001243961.1			4/6		Gene3D:2.60.40.10,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF61,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs9273650	.												A	2	1	29	32661417	32661417	G	A	1	0	0	0	0	0	0	0	1	7095	1074	38	1		1	HLA-DQB1	6	32661417	Silent	SNP	G	C3L-01924_TP	733270	32661417	138144562	216	8531	197	2									
HLA-DQB1	0	.	GRCh38	chr6	32661422	32661422	+	Missense_Mutation	SNP	T	T	C																															cacgaagcctccaacgccacTcagcatcttgctctgggcag																								rs9273651		C3L-01924_TP	C3L-01924_NB	T	T																c.697A>G	p.Ser233Gly	p.S233G	ENST00000374943	4/6	62	54	8	57	57	0	strelka-mutect	HLA-DQB1,missense_variant,p.Ser233Gly,ENST00000399084,;HLA-DQB1,missense_variant,p.Ser233Gly,ENST00000374943,NM_001243961.1;HLA-DQB1,missense_variant,p.Ser233Gly,ENST00000434651,NM_002123.4;HLA-DQB1,intron_variant,,ENST00000399079,;HLA-DQB1,intron_variant,,ENST00000399082,;HLA-DQB1-AS1,downstream_gene_variant,,ENST00000419852,;HLA-DQB1,intron_variant,,ENST00000443574,;HLA-DQB1,upstream_gene_variant,,ENST00000460185,;HLA-DQB1,3_prime_UTR_variant,,ENST00000484729,;HLA-DQB1,non_coding_transcript_exon_variant,,ENST00000487676,;	C	ENST00000374943	Transcript	missense_variant	774/1656	697/810	233/269	S/G	Agt/Ggt	rs9273651	1		-1	HLA-DQB1	HGNC	HGNC:4944	protein_coding	YES	CCDS59006.1	ENSP00000364080		Q5SU54	UPI0000E5AD35	NM_001243961.1	deleterious(0)		4/6		Gene3D:2.60.40.10,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF61,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs9273651	.												C	3	2	29	32661422	32661422	T	C	1	0	0	0	0	1	0	0	0	7095	1551	54	5		5	HLA-DQB1	6	32661422	Missense_Mutation	SNP	T	C3L-01924_TP	5	32661422	138144557	217	8532	197	2									
TMEM217	0	.	GRCh38	chr6	37218923	37218923	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcaactgccattccctagGtgcttctgttcaaagatgag	9	12	10	10	0	2	2	1	1	1	1	3	2	3	2	2	1	4	3	2	1	3	4	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.108C>T	p.=	p.H36H	ENST00000336655	2/4	276	204	72	289	289	0	strelka-varscan-mutect	TMEM217,synonymous_variant,p.=,ENST00000336655,NM_145316.3;TMEM217,synonymous_variant,p.=,ENST00000356757,NM_001286401.1;TMEM217,intron_variant,,ENST00000497775,;TMEM217,intron_variant,,ENST00000478262,;TMEM217,upstream_gene_variant,,ENST00000482580,;TMEM217,non_coding_transcript_exon_variant,,ENST00000357219,;	A	ENST00000336655	Transcript	synonymous_variant	148/1546	108/690	36/229	H	caC/caT		1		-1	TMEM217	HGNC	HGNC:21238	protein_coding	YES	CCDS4831.1	ENSP00000338164	Q8N7C4		UPI0000071695	NM_145316.3			2/4		Pfam_domain:PF15049,hmmpanther:PTHR34928,hmmpanther:PTHR34928:SF2																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	29	37218923	37218923	G	A	1	0	0	0	0	0	0	0	1	16581	1252	44	3		3	TMEM217	6	37218923	Silent	SNP	G	C3L-01924_TP	4557501	37218923	133587056	218	8533											
CMTR1	0	.	GRCh38	chr6	37459664	37459664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagatcgcaagggtgtcCattttctgatggctgatggg	9	11	13	8	1	1	3	0	2	1	1	3	3	2	3	1	3	0	2	1	3	1	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1075C>T	p.His359Tyr	p.H359Y	ENST00000373451	10/24	236	224	12	272	272	0	strelka-mutect	CMTR1,missense_variant,p.His359Tyr,ENST00000373451,NM_015050.2;CMTR1,missense_variant,p.His303Tyr,ENST00000455891,;CMTR1,non_coding_transcript_exon_variant,,ENST00000493656,;	T	ENST00000373451	Transcript	missense_variant	1239/4033	1075/2508	359/835	H/Y	Cat/Tat		1		1	CMTR1	HGNC	HGNC:21077	protein_coding	YES	CCDS4835.1	ENSP00000362550	Q8N1G2		UPI00000700C2	NM_015050.2	deleterious(0.03)		10/24		PROSITE_profiles:PS51613,hmmpanther:PTHR16121:SF0,hmmpanther:PTHR16121,Gene3D:3.40.50.150,Pfam_domain:PF01728,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	37459664	37459664	C	T	1	0	0	0	0	1	0	0	0	3366	594	21	3		3	CMTR1	6	37459664	Missense_Mutation	SNP	C	C3L-01924_TP	240741	37459664	133346315	219	8534											
DNAH8	0	.	GRCh38	chr6	38850282	38850282	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcagaatattgacaagtCttggataaaaataatgcagc	16	13	7	5	0	2	2	1	1	1	1	2	3	2	3	0	1	2	1	0	1	7	7	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.5231C>G	p.Ser1744Cys	p.S1744C	ENST00000327475	38/93	154	105	49	176	176	0	strelka-varscan-mutect	DNAH8,missense_variant,p.Ser1744Cys,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Ser1527Cys,ENST00000359357,;DNAH8,missense_variant,p.Ser1744Cys,ENST00000449981,;	G	ENST00000327475	Transcript	missense_variant	5340/14360	5231/14124	1744/4707	S/C	tCt/tGt		1		1	DNAH8	HGNC	HGNC:2952	protein_coding	YES	CCDS75447.1	ENSP00000333363		A0A075B6F3	UPI000179A984	NM_001206927.1	deleterious(0)		38/93		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF280,Pfam_domain:PF08393																	MODERATE	1	SNV	5			1										PASS		rs1023281989	.												G	3	3	29	38850282	38850282	C	G	1	0	0	0	0	1	0	0	0	4422	913	32	4		4	DNAH8	6	38850282	Missense_Mutation	SNP	C	C3L-01924_TP	1390618	38850282	131955697	220	8535											
KIF6	0	.	GRCh38	chr6	39540114	39540114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctgggtttcctaggcGgaagggtgggctctgggact	4	13	16	8	1	3	0	0	0	3	0	4	2	4	2	1	6	0	2	1	6	2	4	rs757976747		C3L-01924_TP	C3L-01924_NB	G	G																c.1534C>A	p.Arg512Ser	p.R512S	ENST00000287152	13/23	224	191	33	246	245	1	strelka-varscan-mutect	KIF6,missense_variant,p.Arg512Ser,ENST00000287152,NM_145027.4,NM_001289021.1,NM_001289020.1;KIF6,missense_variant,p.Arg404Ser,ENST00000458470,;KIF6,intron_variant,,ENST00000538893,;	T	ENST00000287152	Transcript	missense_variant	1629/9082	1534/2445	512/814	R/S	Cgc/Agc	rs757976747,COSM1487731,COSM1487732	1		-1	KIF6	HGNC	HGNC:21202	protein_coding	YES	CCDS4844.1	ENSP00000287152	Q6ZMV9		UPI0000457436	NM_145027.4,NM_001289021.1,NM_001289020.1	tolerated(0.82)		13/23		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF194											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs757976747	.												T	3	4	29	39540114	39540114	G	T	1	0	0	0	0	1	0	0	0	8173	1116	39	1		1	KIF6	6	39540114	Missense_Mutation	SNP	G	C3L-01924_TP	689832	39540114	131265865	221	8536											
MOCS1	0	.	GRCh38	chr6	39906980	39906981	+	Frame_Shift_Ins	INS	-	-	T																															gctagaggaggggtctggggINSgaccctgcatcctttccata																								novel		C3L-01924_TP	C3L-01924_NB	-	-																c.978_979insA	p.Pro327ThrfsTer34	p.P327Tfs*34	ENST00000373195	9/9	62	40	22	66	66	0	sindel-pindel	MOCS1,frameshift_variant,p.Pro327ThrfsTer34,ENST00000373195,;MOCS1,frameshift_variant,p.Pro430ThrfsTer34,ENST00000340692,;MOCS1,frameshift_variant,p.Pro430ThrfsTer34,ENST00000425303,;MOCS1,3_prime_UTR_variant,,ENST00000373186,NM_005943.5;MOCS1,3_prime_UTR_variant,,ENST00000373188,NM_001075098.3;DAAM2,downstream_gene_variant,,ENST00000538976,NM_015345.3;DAAM2,downstream_gene_variant,,ENST00000398904,;DAAM2,downstream_gene_variant,,ENST00000274867,NM_001201427.1;DAAM2,downstream_gene_variant,,ENST00000633794,;MOCS1,downstream_gene_variant,,ENST00000432280,;MOCS1,intron_variant,,ENST00000373181,;DAAM2,downstream_gene_variant,,ENST00000631498,;	T	ENST00000373195	Transcript	frameshift_variant	1192-1193/2852	978-979/1602	326-327/533	-/X	-/A		1		-1	MOCS1	HGNC	HGNC:7190	protein_coding			ENSP00000362291	Q9NZB8		UPI0000415071				9/9																			HIGH		insertion	2			1										PASS		.	.												T	7	5	29	39906980	39906980	-	T	1	0	1	1	0	0	0	0	0	9653	1232	43	0		0	MOCS1	6	39906980	Frame_Shift_Ins	INS	-	C3L-01924_TP	366866	39906980	130898999	222	8537											
ZNF318	0	.	GRCh38	chr6	43357207	43357207	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcacagatacttcctcaggCcgatgcaaagaatatcctgg	13	9	8	11	1	2	2	2	0	0	2	4	3	4	2	3	2	2	1	3	2	4	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1107G>T	p.=	p.R369R	ENST00000361428	3/10	182	160	22	214	212	2	strelka-varscan-mutect	ZNF318,synonymous_variant,p.=,ENST00000361428,NM_014345.2;ZNF318,synonymous_variant,p.=,ENST00000605935,;	A	ENST00000361428	Transcript	synonymous_variant	1185/8006	1107/6840	369/2279	R	cgG/cgT		1		-1	ZNF318	HGNC	HGNC:13578	protein_coding	YES	CCDS4895.2	ENSP00000354964	Q5VUA4		UPI000049E044	NM_014345.2			3/10		hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577																	LOW	1	SNV	1			1										PASS		rs1382386281	.												A	2	1	29	43357207	43357207	C	A	1	0	0	0	0	0	0	0	1	18411	726	26	2		2	ZNF318	6	43357207	Silent	SNP	C	C3L-01924_TP	3450227	43357207	127448772	223	8538											
PHF3	0	.	GRCh38	chr6	63712532	63712532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccacagtttatcaacctGaaaagggatcctaggcaagc	13	9	8	11	0	2	1	1	1	1	0	4	2	3	2	3	2	2	2	3	2	6	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.4944G>A	p.=	p.L1648L	ENST00000262043	16/16	254	229	25	317	317	0	strelka-varscan-mutect	PHF3,synonymous_variant,p.=,ENST00000262043,NM_001290259.1;PHF3,synonymous_variant,p.=,ENST00000393387,NM_015153.3;PHF3,intron_variant,,ENST00000505138,;PHF3,downstream_gene_variant,,ENST00000506783,;PHF3,downstream_gene_variant,,ENST00000515594,;PHF3,3_prime_UTR_variant,,ENST00000509876,;	A	ENST00000262043	Transcript	synonymous_variant	5284/8233	4944/6120	1648/2039	L	ctG/ctA		1		1	PHF3	HGNC	HGNC:8921	protein_coding	YES	CCDS4966.1	ENSP00000262043	Q92576		UPI000007154D	NM_001290259.1			16/16																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	29	63712532	63712532	G	A	1	0	0	0	0	0	0	0	1	11923	1277	45	3		3	PHF3	6	63712532	Silent	SNP	G	C3L-01924_TP	20355325	63712532	107093447	224	8539											
EYS	0	.	GRCh38	chr6	64590884	64590884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggataaacaagtcttatcCaaacataaattaacatccaa	20	10	3	8	0	1	0	0	0	1	0	3	1	3	1	2	1	3	0	2	1	9	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.4983G>T	p.Leu1661Phe	p.L1661F	ENST00000370621	26/44	179	153	26	243	243	0	strelka-varscan-mutect	EYS,missense_variant,p.Leu1661Phe,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Leu1661Phe,ENST00000370621,NM_001292009.1;EYS,downstream_gene_variant,,ENST00000330816,;	A	ENST00000370621	Transcript	missense_variant	5510/10485	4983/9498	1661/3165	L/F	ttG/ttT		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	deleterious_low_confidence(0.02)		26/44																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	64590884	64590884	C	A	1	0	0	0	0	1	0	0	0	5200	593	21	2		2	EYS	6	64590884	Missense_Mutation	SNP	C	C3L-01924_TP	878352	64590884	106215095	225	8540											
EYS	0	.	GRCh38	chr6	64813380	64813380	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtaaataaatactgacctGcagtcaaaagtatgtccagg	15	9	10	7	0	1	1	1	1	0	0	2	1	2	1	2	2	2	3	2	2	8	4	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.3441C>A	p.Cys1147Ter	p.C1147*	ENST00000370621	22/44	205	193	12	216	216	0	strelka-varscan-mutect	EYS,stop_gained,p.Cys1147Ter,ENST00000503581,NM_001142800.1;EYS,stop_gained,p.Cys1147Ter,ENST00000370621,NM_001292009.1;	T	ENST00000370621	Transcript	stop_gained,splice_region_variant	3968/10485	3441/9498	1147/3165	C/*	tgC/tgA		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1			22/44		Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	29	64813380	64813380	G	T	1	0	0	0	0	0	1	0	0	5200	1333	46	2		2	EYS	6	64813380	Nonsense_Mutation	SNP	G	C3L-01924_TP	222496	64813380	105992599	226	8541											
EYS	0	.	GRCh38	chr6	65332390	65332390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctatatgttgctgaatttgGtgtggtatcaccgtgttgag	7	17	12	5	1	2	2	1	2	1	0	2	2	2	2	1	2	1	4	1	2	4	6	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1794C>A	p.His598Gln	p.H598Q	ENST00000393380	12/12	217	171	46	278	276	2	strelka-varscan-mutect	EYS,missense_variant,p.His598Gln,ENST00000393380,NM_001142801.1;EYS,intron_variant,,ENST00000503581,NM_001142800.1;EYS,intron_variant,,ENST00000370621,NM_001292009.1;EYS,downstream_gene_variant,,ENST00000342421,NM_198283.1;	T	ENST00000393380	Transcript	missense_variant	2332/5450	1794/1860	598/619	H/Q	caC/caA		1		-1	EYS	HGNC	HGNC:21555	protein_coding		CCDS47446.1	ENSP00000377042	Q5T1H1		UPI00001D812F	NM_001142801.1	tolerated_low_confidence(0.65)		12/12																			MODERATE		SNV	1			1										PASS		.	.												T	3	4	29	65332390	65332390	G	T	1	0	0	0	0	1	0	0	0	5200	1252	44	2		2	EYS	6	65332390	Missense_Mutation	SNP	G	C3L-01924_TP	519010	65332390	105473589	227	8542											
EYS	0	.	GRCh38	chr6	65405262	65405262	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccattttggctggaagatCcttttgggcattcataagta	10	14	9	8	0	1	1	1	0	0	1	2	2	2	2	2	3	0	3	2	3	3	7	rs752456937		C3L-01924_TP	C3L-01924_NB	C	C																c.968G>T	p.Gly323Val	p.G323V	ENST00000370621	6/44	317	285	32	332	331	1	strelka-varscan-mutect	EYS,missense_variant,p.Gly323Val,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Gly323Val,ENST00000370621,NM_001292009.1;EYS,missense_variant,p.Gly323Val,ENST00000393380,NM_001142801.1;EYS,missense_variant,p.Gly323Val,ENST00000342421,NM_198283.1;	A	ENST00000370621	Transcript	missense_variant	1495/10485	968/9498	323/3165	G/V	gGa/gTa	rs752456937,COSM4563317,COSM4563318	1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	deleterious(0)		6/44		hmmpanther:PTHR24033,SMART_domains:SM00181											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs1411803360	.												A	3	1	29	65405262	65405262	C	A	1	0	0	0	0	1	0	0	0	5200	855	30	2		2	EYS	6	65405262	Missense_Mutation	SNP	C	C3L-01924_TP	72872	65405262	105400717	228	8543											
COL19A1	0	.	GRCh38	chr6	69929610	69929610	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatggattgtaatttaatTgcgaggaggcagactgatga	13	13	12	3	1	0	3	0	2	0	1	0	6	0	5	0	3	1	2	0	3	4	7	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.576T>C	p.=	p.I192I	ENST00000620364	6/51	223	182	41	303	303	0	strelka-mutect	COL19A1,synonymous_variant,p.=,ENST00000620364,NM_001858.5;	C	ENST00000620364	Transcript	synonymous_variant	678/6233	576/3429	192/1142	I	atT/atC		1		1	COL19A1	HGNC	HGNC:2196	protein_coding	YES	CCDS4970.1	ENSP00000480474	Q14993		UPI000004F1E3	NM_001858.5			6/51		Gene3D:2.60.120.200,SMART_domains:SM00210,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	29	69929610	69929610	T	C	1	0	0	0	0	0	0	0	1	3464	1800	63	5		5	COL19A1	6	69929610	Silent	SNP	T	C3L-01924_TP	4524348	69929610	100876369	229	8544											
MYO6	0	.	GRCh38	chr6	75914879	75914879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgactcggaagcgtggtgCtgagatcttgccaagacagt	9	9	13	10	2	1	3	0	2	1	2	2	5	1	4	2	2	3	1	2	2	2	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.3725C>T	p.Ala1242Val	p.A1242V	ENST00000369977	35/35	315	261	54	365	365	0	strelka-varscan-mutect	MYO6,missense_variant,p.Ala1252Val,ENST00000369981,;MYO6,missense_variant,p.Ala1219Val,ENST00000369985,NM_001300899.1;MYO6,missense_variant,p.Ala1242Val,ENST00000369977,NM_004999.3;MYO6,missense_variant,p.Ala1210Val,ENST00000369975,;MYO6,missense_variant,p.Ala1251Val,ENST00000627432,;MYO6,missense_variant,p.Ala1219Val,ENST00000615563,;	T	ENST00000369977	Transcript	missense_variant	3864/5597	3725/3858	1242/1285	A/V	gCt/gTt		1		1	MYO6	HGNC	HGNC:7605	protein_coding	YES	CCDS34487.1	ENSP00000358994	Q9UM54		UPI00000727CF	NM_004999.3	deleterious(0)		35/35		Pfam_domain:PF16521																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	75914879	75914879	C	T	1	0	0	0	0	1	0	0	0	10082	797	28	3		3	MYO6	6	75914879	Missense_Mutation	SNP	C	C3L-01924_TP	5985269	75914879	94891100	230	8545											
SIM1	0	.	GRCh38	chr6	100448615	100448615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgttttggtagcagcCgtcgaagggggacatgtcca	8	8	14	11	3	0	0	0	0	0	0	2	2	1	1	3	3	2	3	3	3	2	3	rs755172740		C3L-01924_TP	C3L-01924_NB	C	C																c.607G>T	p.Gly203Cys	p.G203C	ENST00000369208	7/12	138	116	22	168	168	0	strelka-mutect	SIM1,missense_variant,p.Gly203Cys,ENST00000369208,;SIM1,missense_variant,p.Gly203Cys,ENST00000262901,NM_005068.2;	A	ENST00000369208	Transcript	missense_variant	1390/8430	607/2301	203/766	G/C	Ggc/Tgc	rs755172740,COSM1071586	1		-1	SIM1	HGNC	HGNC:10882	protein_coding	YES	CCDS5045.1	ENSP00000358210	P81133		UPI000013D355		deleterious(0.04)		7/12		hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF29											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs755172740	.												A	3	1	29	100448615	100448615	C	A	1	0	0	0	0	1	0	0	0	14586	652	23	1		1	SIM1	6	100448615	Missense_Mutation	SNP	C	C3L-01924_TP	24533736	100448615	70357364	231	8546											
SLC22A16	0	.	GRCh38	chr6	110456864	110456864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccggtgtcctccaaactCcaattagagtgattatggaa	11	10	9	11	1	0	2	0	1	0	1	3	3	3	3	5	2	1	0	5	2	5	2	rs374020837		C3L-01924_TP	C3L-01924_NB	C	C																c.207G>T	p.Trp69Cys	p.W69C	ENST00000368919	2/8	103	90	13	167	167	0	strelka-varscan-mutect	SLC22A16,missense_variant,p.Trp69Cys,ENST00000368919,NM_033125.3;SLC22A16,missense_variant,p.Trp26Cys,ENST00000437378,;SLC22A16,missense_variant,p.Trp26Cys,ENST00000424139,;SLC22A16,intron_variant,,ENST00000330550,;SLC22A16,intron_variant,,ENST00000434949,;SLC22A16,upstream_gene_variant,,ENST00000451557,;SLC22A16,non_coding_transcript_exon_variant,,ENST00000461487,;	A	ENST00000368919	Transcript	missense_variant	274/1987	207/1734	69/577	W/C	tgG/tgT	rs374020837,COSM227276	1		-1	SLC22A16	HGNC	HGNC:20302	protein_coding	YES	CCDS5084.1	ENSP00000357915	Q86VW1	A0A0K0K1K9	UPI000000DC13	NM_033125.3	tolerated(0.07)		2/8		hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF186											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs374020837	.												A	3	1	29	110456864	110456864	C	A	1	0	0	0	0	1	0	0	0	14713	856	30	2		2	SLC22A16	6	110456864	Missense_Mutation	SNP	C	C3L-01924_TP	10008249	110456864	60349115	232	8547											
MARCKS	0	.	GRCh38	chr6	113860151	113860151	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcgcccgctgccgaaGgcggcaaggacgaggccgcc	7	2	17	15	6	0	1	0	1	0	0	0	4	0	2	4	5	1	2	4	5	2	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.571G>C	p.Gly191Arg	p.G191R	ENST00000612661	2/2	76	63	13	64	64	0	strelka-varscan-mutect	MARCKS,missense_variant,p.Gly191Arg,ENST00000612661,NM_002356.6;	C	ENST00000612661	Transcript	missense_variant	955/4275	571/999	191/332	G/R	Ggc/Cgc		1		1	MARCKS	HGNC	HGNC:6759	protein_coding	YES	CCDS5101.1	ENSP00000478061	P29966		UPI000013DDF0	NM_002356.6	deleterious_low_confidence(0.01)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR14353,hmmpanther:PTHR14353:SF9,Pfam_domain:PF02063																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	113860151	113860151	G	C	1	0	0	0	0	1	0	0	0	9234	1000	35	4		4	MARCKS	6	113860151	Missense_Mutation	SNP	G	C3L-01924_TP	3403287	113860151	56945828	233	8548											
RFX6	0	.	GRCh38	chr6	116919138	116919138	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacatagccttctttgtagcTtattagcagacataagaaat	14	13	6	8	0	1	2	0	0	1	2	1	2	1	2	1	0	3	3	1	0	6	7	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1024T>G	p.Leu342Val	p.L342V	ENST00000332958	11/19	175	160	15	261	260	1	strelka-varscan-mutect	RFX6,missense_variant,p.Leu342Val,ENST00000332958,NM_173560.3;RFX6,downstream_gene_variant,,ENST00000471966,;RFX6,splice_region_variant,,ENST00000487683,;	G	ENST00000332958	Transcript	missense_variant,splice_region_variant	1040/3460	1024/2787	342/928	L/V	Tta/Gta		1		1	RFX6	HGNC	HGNC:21478	protein_coding	YES	CCDS5113.1	ENSP00000332208	Q8HWS3		UPI00001609BE	NM_173560.3	deleterious(0)		11/19		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	116919138	116919138	T	G	1	0	0	0	0	1	0	0	0	13441	1623	56	5		5	RFX6	6	116919138	Missense_Mutation	SNP	T	C3L-01924_TP	3058987	116919138	53886841	234	8549											
C6orf58	0	.	GRCh38	chr6	127578735	127578735	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtggctatgaatctggAgatcatatgtgcatctctgt	10	14	10	7	0	3	2	1	1	2	1	4	3	3	2	0	2	2	2	0	2	4	2	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.351A>T	p.=	p.G117G	ENST00000329722	2/6	143	123	20	173	172	1	strelka-varscan-mutect	C6orf58,synonymous_variant,p.=,ENST00000329722,NM_001010905.2;C6orf58,downstream_gene_variant,,ENST00000498112,;	T	ENST00000329722	Transcript	synonymous_variant	363/1200	351/993	117/330	G	ggA/ggT		1		1	C6orf58	HGNC	HGNC:20960	protein_coding	YES	CCDS34533.1	ENSP00000328069	Q6P5S2		UPI00001D80C9	NM_001010905.2			2/6		Pfam_domain:PF05612,hmmpanther:PTHR18820,hmmpanther:PTHR18820:SF4																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	127578735	127578735	A	T	1	0	0	0	0	0	0	0	1	2131	291	11	4		4	C6orf58	6	127578735	Silent	SNP	A	C3L-01924_TP	10659597	127578735	43227244	235	8550											
ENPP3	0	.	GRCh38	chr6	131740286	131740286	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggtgctgaccagttgtaAaaacaagagccacacaccgg	13	7	11	10	1	0	2	0	1	0	1	0	2	0	2	3	2	3	3	3	2	4	2	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.2363A>C	p.Lys788Thr	p.K788T	ENST00000414305	25/26	140	127	13	186	186	0	strelka-varscan-mutect	ENPP3,missense_variant,p.Lys788Thr,ENST00000414305,;ENPP3,missense_variant,p.Lys788Thr,ENST00000357639,NM_005021.3;ENPP3,3_prime_UTR_variant,,ENST00000358229,;	C	ENST00000414305	Transcript	missense_variant	2691/3418	2363/2628	788/875	K/T	aAa/aCa		1		1	ENPP3	HGNC	HGNC:3358	protein_coding	YES	CCDS5148.1	ENSP00000406261	O14638		UPI000013DD9F		tolerated(0.08)		25/26		hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF64,Pfam_domain:PF01223,Gene3D:1g8tA00,SMART_domains:SM00892,SMART_domains:SM00477,Superfamily_domains:SSF54060																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	131740286	131740286	A	C	1	0	0	0	0	1	0	0	0	4976	14	1	5		5	ENPP3	6	131740286	Missense_Mutation	SNP	A	C3L-01924_TP	4161551	131740286	39065693	236	8551											
TAAR9	0	.	GRCh38	chr6	132539186	132539186	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgagattttagtttggtgTgtttattataattcagctat	10	21	8	2	0	1	1	1	1	0	1	1	2	1	1	0	1	1	3	0	1	6	10	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.897T>A	p.Cys299Ter	p.C299*	ENST00000434551	1/1	89	75	14	109	109	0	strelka-varscan-mutect	TAAR9,stop_gained,p.Cys299Ter,ENST00000434551,NM_175057.3;	A	ENST00000434551	Transcript	stop_gained	897/1047	897/1047	299/348	C/*	tgT/tgA		1		1	TAAR9	HGNC	HGNC:20977	protein_coding	YES	CCDS75520.1	ENSP00000424607	Q96RI9		UPI000000D880	NM_175057.3			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF79,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	HIGH	1	SNV				1										PASS		.	.												A	4	1	29	132539186	132539186	T	A	1	0	0	0	0	0	1	0	0	15890	1702	59	4		4	TAAR9	6	132539186	Nonsense_Mutation	SNP	T	C3L-01924_TP	798900	132539186	38266793	237	8552											
SLC35D3	0	.	GRCh38	chr6	136924390	136924390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaactacgaggacctggaGgcccagcctcggggagagga	11	3	16	11	2	0	1	0	0	0	1	1	6	0	4	3	6	4	1	3	6	2	1	rs755575098		C3L-01924_TP	C3L-01924_NB	G	G																c.945G>T	p.Glu315Asp	p.E315D	ENST00000331858	2/2	288	254	34	372	369	3	strelka-varscan-mutect	SLC35D3,missense_variant,p.Glu315Asp,ENST00000331858,NM_001008783.2;	T	ENST00000331858	Transcript	missense_variant	1110/2359	945/1251	315/416	E/D	gaG/gaT	rs755575098	1		1	SLC35D3	HGNC	HGNC:15621	protein_coding	YES	CCDS34544.1	ENSP00000333591	Q5M8T2		UPI00003673E9	NM_001008783.2	deleterious(0.04)		2/2																			MODERATE	1	SNV	1			1										PASS		rs755575098	.												T	3	4	29	136924390	136924390	G	T	1	0	0	0	0	1	0	0	0	14853	991	35	2		2	SLC35D3	6	136924390	Missense_Mutation	SNP	G	C3L-01924_TP	4385204	136924390	33881589	238	8553											
ADGRG6	0	.	GRCh38	chr6	142417332	142417332	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaacaatgaagtctatGgaaaagaaagttatgggaaa	21	7	10	3	0	1	2	0	1	1	1	1	5	1	4	0	2	2	1	0	2	10	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2998G>T	p.Gly1000Ter	p.G1000*	ENST00000367609	21/25	233	198	35	279	278	1	strelka-varscan-mutect	ADGRG6,stop_gained,p.Gly1000Ter,ENST00000230173,NM_020455.5;ADGRG6,stop_gained,p.Gly1000Ter,ENST00000367609,NM_198569.2;ADGRG6,stop_gained,p.Gly972Ter,ENST00000367608,NM_001032395.2;ADGRG6,stop_gained,p.Gly972Ter,ENST00000296932,NM_001032394.2;ADGRG6,non_coding_transcript_exon_variant,,ENST00000472054,;	T	ENST00000367609	Transcript	stop_gained	3399/6887	2998/3753	1000/1250	G/*	Gga/Tga		1		1	ADGRG6	HGNC	HGNC:13841	protein_coding	YES	CCDS47489.1	ENSP00000356581	Q86SQ4		UPI000022CCE4	NM_198569.2			21/25		Gene3D:1.20.1070.10,Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF290,Superfamily_domains:SSF81321																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	29	142417332	142417332	G	T	1	0	0	0	0	0	1	0	0	373	1349	47	2		2	ADGRG6	6	142417332	Nonsense_Mutation	SNP	G	C3L-01924_TP	5492942	142417332	28388647	239	8554											
SHPRH	0	.	GRCh38	chr6	145913478	145913478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtttatcataattttacCtgttttcctagctgtcgagc	8	18	7	8	1	1	0	1	0	0	0	3	2	2	0	2	0	3	3	2	0	4	8	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.4326G>T	p.Gln1442His	p.Q1442H	ENST00000367505	24/30	176	167	9	206	206	0	strelka-mutect	SHPRH,missense_variant,p.Gln1446His,ENST00000629427,;SHPRH,missense_variant,p.Gln1442His,ENST00000367505,;SHPRH,missense_variant,p.Gln1446His,ENST00000438092,NM_173082.3;SHPRH,missense_variant,p.Gln1442His,ENST00000275233,NM_001042683.2;SHPRH,downstream_gene_variant,,ENST00000367503,;SHPRH,splice_region_variant,,ENST00000433355,;SHPRH,downstream_gene_variant,,ENST00000519632,;SHPRH,downstream_gene_variant,,ENST00000523276,;	A	ENST00000367505	Transcript	missense_variant,splice_region_variant	4591/7201	4326/5052	1442/1683	Q/H	caG/caT		1		-1	SHPRH	HGNC	HGNC:19336	protein_coding	YES	CCDS43513.2	ENSP00000356475	Q149N8		UPI0000458A24		tolerated(0.1)		24/30		PROSITE_profiles:PS50089,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	145913478	145913478	C	A	1	0	0	0	0	1	0	0	0	14554	695	24	2		2	SHPRH	6	145913478	Missense_Mutation	SNP	C	C3L-01924_TP	3496146	145913478	24892501	240	8555											
ADGB	0	.	GRCh38	chr6	146672244	146672244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggatatatggacaaagtttgGgagctcctgaaagaaatatt	15	11	11	4	0	0	2	0	1	0	1	1	5	1	5	1	3	1	2	1	3	6	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.864G>T	p.Trp288Cys	p.W288C	ENST00000397944	8/36	97	91	6	138	136	2	strelka-varscan-mutect	ADGB,missense_variant,p.Trp288Cys,ENST00000397944,NM_024694.3;ADGB,stop_gained,p.Gly213Ter,ENST00000493950,;ADGB,non_coding_transcript_exon_variant,,ENST00000326929,;	T	ENST00000397944	Transcript	missense_variant	940/5325	864/5004	288/1667	W/C	tgG/tgT		1		1	ADGB	HGNC	HGNC:21212	protein_coding	YES		ENSP00000381036	Q8N7X0		UPI000020E382	NM_024694.3	deleterious(0)		8/36		PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF304,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	29	146672244	146672244	G	T	1	0	0	0	0	1	0	0	0	351	1241	43	2		2	ADGB	6	146672244	Missense_Mutation	SNP	G	C3L-01924_TP	758766	146672244	24133735	241	8556											
FBXO5	0	.	GRCh38	chr6	152973104	152973104	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccttatcatcttctaggAtcttcttccaagttgtgctc	6	16	5	14	0	5	0	1	0	4	0	7	1	6	1	3	1	1	2	3	1	3	6	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.851T>A	p.Ile284Asn	p.I284N	ENST00000229758	3/5	212	201	11	211	211	0	strelka-varscan-mutect	FBXO5,missense_variant,p.Ile238Asn,ENST00000367241,NM_001142522.1;FBXO5,missense_variant,p.Ile284Asn,ENST00000229758,NM_012177.3;FBXO5,non_coding_transcript_exon_variant,,ENST00000477822,;	T	ENST00000229758	Transcript	missense_variant	910/2037	851/1344	284/447	I/N	aTc/aAc		1		-1	FBXO5	HGNC	HGNC:13584	protein_coding	YES	CCDS5242.1	ENSP00000229758	Q9UKT4		UPI000012A585	NM_012177.3	deleterious(0)		3/5		Gene3D:1.20.1280.50,Pfam_domain:PF00646,hmmpanther:PTHR15493,hmmpanther:PTHR15493:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	152973104	152973104	A	T	1	0	0	0	0	1	0	0	0	5621	333	12	4		4	FBXO5	6	152973104	Missense_Mutation	SNP	A	C3L-01924_TP	6300860	152973104	17832875	242	8557											
CLDN20	0	.	GRCh38	chr6	155275979	155275979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagccaccatggtcctggCgtgtgttctgtctgctttgg	4	13	14	10	1	2	1	0	0	2	1	3	2	3	1	3	3	2	2	3	3	0	2	rs201661997		C3L-01924_TP	C3L-01924_NB	C	C																c.260C>A	p.Ala87Glu	p.A87E	ENST00000367165	2/2	243	196	47	335	335	0	strelka-varscan-mutect	CLDN20,missense_variant,p.Ala87Glu,ENST00000367165,NM_001001346.3;TFB1M,intron_variant,,ENST00000367166,NM_016020.3;TFB1M,intron_variant,,ENST00000468889,;TFB1M,intron_variant,,ENST00000489874,;TFB1M,intron_variant,,ENST00000495806,;TFB1M,intron_variant,,ENST00000470239,;	A	ENST00000367165	Transcript	missense_variant	640/1209	260/660	87/219	A/E	gCg/gAg	rs201661997,COSM3859952	1		1	CLDN20	HGNC	HGNC:2042	protein_coding	YES	CCDS5249.1	ENSP00000356133	P56880	A0A140VKA2	UPI0000001069	NM_001001346.3	deleterious(0.01)		2/2		Pfam_domain:PF00822,Prints_domain:PR01077,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF17,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201661997	.												A	3	1	29	155275979	155275979	C	A	1	0	0	0	0	1	0	0	0	3246	768	27	1		1	CLDN20	6	155275979	Missense_Mutation	SNP	C	C3L-01924_TP	2302875	155275979	15530000	243	8558											
TULP4	0	.	GRCh38	chr6	158502034	158502034	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgtccacggtgggccatGgagaccgagaccacgaacac	11	4	13	13	3	0	2	0	0	0	2	1	5	1	2	4	3	2	1	4	3	1	0	rs537043044		C3L-01924_TP	C3L-01924_NB	G	G																c.2371G>T	p.Gly791Ter	p.G791*	ENST00000367097	13/14	87	76	11	130	130	0	strelka-varscan-mutect	TULP4,stop_gained,p.Gly791Ter,ENST00000367097,NM_020245.4;TULP4,intron_variant,,ENST00000367094,NM_001007466.2;TULP4,downstream_gene_variant,,ENST00000613390,;	T	ENST00000367097	Transcript	stop_gained	3900/11295	2371/4632	791/1543	G/*	Gga/Tga	rs537043044	1		1	TULP4	HGNC	HGNC:15530	protein_coding	YES	CCDS34561.1	ENSP00000356064	Q9NRJ4		UPI000013CD76	NM_020245.4			13/14		hmmpanther:PTHR16517:SF33,hmmpanther:PTHR16517																	HIGH	1	SNV	1			1										PASS		rs537043044	.												T	4	4	29	158502034	158502034	G	T	1	0	0	0	0	0	1	0	0	17286	1349	47	2		2	TULP4	6	158502034	Nonsense_Mutation	SNP	G	C3L-01924_TP	3226055	158502034	12303945	244	8559											
TCP1	0	.	GRCh38	chr6	159788096	159788096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cattttatccaagccaactgGaccaagagaactttttacaa	15	11	5	10	0	0	1	0	0	0	1	1	3	1	2	3	1	4	0	3	1	7	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.112C>T	p.Pro38Ser	p.P38S	ENST00000321394	2/12	237	218	19	302	302	0	strelka-varscan-mutect	TCP1,missense_variant,p.Pro38Ser,ENST00000321394,NM_030752.2;TCP1,missense_variant,p.Pro38Ser,ENST00000420894,;TCP1,missense_variant,p.Pro16Ser,ENST00000539948,;TCP1,missense_variant,p.Pro16Ser,ENST00000537390,;TCP1,missense_variant,p.Pro16Ser,ENST00000536394,;TCP1,intron_variant,,ENST00000392168,NM_001008897.1;TCP1,intron_variant,,ENST00000544255,;TCP1,intron_variant,,ENST00000539756,;TCP1,intron_variant,,ENST00000538128,;MRPL18,upstream_gene_variant,,ENST00000367034,NM_014161.3;SNORA29,upstream_gene_variant,,ENST00000384183,;TCP1,non_coding_transcript_exon_variant,,ENST00000543532,;TCP1,downstream_gene_variant,,ENST00000546023,;MRPL18,upstream_gene_variant,,ENST00000480842,;MRPL18,upstream_gene_variant,,ENST00000476826,;MRPL18,upstream_gene_variant,,ENST00000479638,;TCP1,missense_variant,p.Pro38Ser,ENST00000538530,;TCP1,missense_variant,p.Pro38Ser,ENST00000543517,;TCP1,non_coding_transcript_exon_variant,,ENST00000545764,;TCP1,non_coding_transcript_exon_variant,,ENST00000536607,;TCP1,upstream_gene_variant,,ENST00000536807,;TCP1,upstream_gene_variant,,ENST00000467544,;	A	ENST00000321394	Transcript	missense_variant	393/2499	112/1671	38/556	P/S	Cca/Tca		1		-1	TCP1	HGNC	HGNC:11655	protein_coding	YES	CCDS5269.1	ENSP00000317334	P17987		UPI0000136AEA	NM_030752.2	deleterious(0)		2/12		hmmpanther:PTHR11353,PROSITE_patterns:PS00750,Pfam_domain:PF00118,TIGRFAM_domain:TIGR02340,Gene3D:1.10.560.10,Superfamily_domains:SSF48592,Prints_domain:PR00304																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	159788096	159788096	G	A	1	0	0	0	0	1	0	0	0	16116	1174	41	3		3	TCP1	6	159788096	Missense_Mutation	SNP	G	C3L-01924_TP	1286062	159788096	11017883	245	8560											
KDELR2	0	.	GRCh38	chr7	6469742	6469742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtggcataggagcaggCaaggtagataacctacaaat	15	7	11	8	0	0	1	0	0	0	1	0	2	0	2	1	4	3	4	1	4	6	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.205G>T	p.Ala69Ser	p.A69S	ENST00000258739	3/5	107	74	33	110	110	0	strelka-varscan-mutect	KDELR2,missense_variant,p.Ala69Ser,ENST00000258739,NM_006854.3;KDELR2,missense_variant,p.Ala69Ser,ENST00000490996,NM_001100603.1;DAGLB,intron_variant,,ENST00000436575,;KDELR2,intron_variant,,ENST00000463747,;KDELR2,3_prime_UTR_variant,,ENST00000382267,;KDELR2,non_coding_transcript_exon_variant,,ENST00000454368,;KDELR2,downstream_gene_variant,,ENST00000462052,;	A	ENST00000258739	Transcript	missense_variant	390/2884	205/639	69/212	A/S	Gcc/Tcc		1		-1	KDELR2	HGNC	HGNC:6305	protein_coding	YES	CCDS5351.1	ENSP00000258739	P33947	A0A024QZT7	UPI000012A0CC	NM_006854.3	tolerated(0.42)		3/5		Pfam_domain:PF00810,hmmpanther:PTHR10585,hmmpanther:PTHR10585:SF37,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1328710222	.												A	3	1	29	6469742	6469742	C	A	1	0	0	0	0	1	0	0	0	8037	710	25	2		2	KDELR2	7	6469742	Missense_Mutation	SNP	C	C3L-01924_TP		6469742	152876231	246	8561											
DGKB	0	.	GRCh38	chr7	14149198	14149198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccggtttttggaggcgggCccatcagcattggggcttgg	6	10	16	9	2	1	0	1	0	0	0	1	1	1	1	2	7	2	3	2	7	1	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2348G>A	p.Gly783Asp	p.G783D	ENST00000403951	26/26	236	221	15	259	259	0	strelka-varscan-mutect	DGKB,missense_variant,p.Gly783Asp,ENST00000403951,;DGKB,missense_variant,p.Gly783Asp,ENST00000399322,NM_004080.2;DGKB,missense_variant,p.Gly782Asp,ENST00000402815,;DGKB,missense_variant,p.Gly775Asp,ENST00000407950,;DGKB,non_coding_transcript_exon_variant,,ENST00000493142,;	T	ENST00000403951	Transcript	missense_variant	2768/6917	2348/2415	783/804	G/D	gGc/gAc		1		-1	DGKB	HGNC	HGNC:2850	protein_coding	YES	CCDS47547.1	ENSP00000385780	Q9Y6T7		UPI0000033B9B		deleterious(0)		26/26		hmmpanther:PTHR11255:SF32,hmmpanther:PTHR11255																	MODERATE	1	SNV	5			1										PASS		rs1260652993	.												T	3	4	29	14149198	14149198	C	T	1	0	0	0	0	1	0	0	0	4272	739	26	3		3	DGKB	7	14149198	Missense_Mutation	SNP	C	C3L-01924_TP	7679456	14149198	145196775	247	8562											
AGMO	0	.	GRCh38	chr7	15544899	15544899	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatataaatataactggtCagttcaatgctcctgaaaaa	17	11	6	7	0	2	2	2	1	0	1	3	2	3	2	1	1	2	2	1	1	8	5	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.282G>T	p.=	p.L94L	ENST00000342526	3/13	100	78	22	122	121	1	strelka-varscan-mutect	AGMO,synonymous_variant,p.=,ENST00000342526,NM_001004320.1;	A	ENST00000342526	Transcript	synonymous_variant	452/2475	282/1338	94/445	L	ctG/ctT		1		-1	AGMO	HGNC	HGNC:33784	protein_coding	YES	CCDS34604.1	ENSP00000341662	Q6ZNB7	X5D773	UPI0000050343	NM_001004320.1			3/13		hmmpanther:PTHR21624,hmmpanther:PTHR21624:SF1																	LOW	1	SNV	1			1										PASS		rs1248944917	.												A	2	1	29	15544899	15544899	C	A	1	0	0	0	0	0	0	0	1	463	813	29	2		2	AGMO	7	15544899	Silent	SNP	C	C3L-01924_TP	1395701	15544899	143801074	248	8563											
HDAC9	0	.	GRCh38	chr7	18590420	18590420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcagcagaggcaagaacagGaagtagagaggcatcgcaga	17	2	15	7	1	0	4	0	0	0	4	1	6	0	5	0	3	3	6	0	3	4	1	rs867599481		C3L-01924_TP	C3L-01924_NB	G	G																c.349G>A	p.Glu117Lys	p.E117K	ENST00000441542	3/25	249	222	27	269	269	0	strelka-varscan-mutect	HDAC9,missense_variant,p.Glu114Lys,ENST00000406451,NM_001321897.1,NM_178423.1;HDAC9,missense_variant,p.Glu117Lys,ENST00000622668,NM_001321879.1,NM_001321885.1,NM_001321893.1,NM_001321891.1,NM_001321894.1,NM_001204146.1;HDAC9,missense_variant,p.Glu114Lys,ENST00000405010,NM_001321869.1,NM_001321870.1,NM_001321874.1,NM_001321875.1,NM_001321884.1,NM_001321886.1,NM_001321887.1,NM_001321890.1,NM_001321899.1,NM_001321900.1,NM_001321901.1,NM_001321902.1,NM_014707.1;HDAC9,missense_variant,p.Glu145Lys,ENST00000406072,NM_001321871.1,NM_001321872.1,NM_001321873.1,NM_001321888.1,NM_001321895.1,NM_001321898.1;HDAC9,missense_variant,p.Glu117Lys,ENST00000401921,;HDAC9,missense_variant,p.Glu117Lys,ENST00000441542,NM_178425.2;HDAC9,missense_variant,p.Glu114Lys,ENST00000432645,NM_058176.2;HDAC9,missense_variant,p.Glu156Lys,ENST00000417496,NM_001204144.1;HDAC9,missense_variant,p.Glu114Lys,ENST00000428307,NM_001204145.1;HDAC9,missense_variant,p.Glu86Lys,ENST00000456174,NM_001204148.1;HDAC9,missense_variant,p.Glu83Lys,ENST00000524023,NM_001204147.1;HDAC9,missense_variant,p.Glu117Lys,ENST00000413380,;HDAC9,missense_variant,p.Glu83Lys,ENST00000441986,;HDAC9,missense_variant,p.Glu117Lys,ENST00000413509,;HDAC9,downstream_gene_variant,,ENST00000430454,;HDAC9,downstream_gene_variant,,ENST00000476135,;HDAC9,3_prime_UTR_variant,,ENST00000446646,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;	A	ENST00000441542	Transcript	missense_variant	349/3210	349/3210	117/1069	E/K	Gaa/Aaa	rs867599481,COSM4549183,COSM4549184,COSM4549185,COSM4549186	1		1	HDAC9	HGNC	HGNC:14065	protein_coding	YES	CCDS47553.1	ENSP00000408617	Q9UKV0		UPI000019AB75	NM_178425.2	deleterious(0)		3/25		Low_complexity_(Seg):seg,Pfam_domain:PF12203,PIRSF_domain:PIRSF037911,Coiled-coils_(Ncoils):Coil											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs867599481	.												A	3	1	29	18590420	18590420	G	A	1	0	0	0	0	1	0	0	0	6901	1175	41	3		3	HDAC9	7	18590420	Missense_Mutation	SNP	G	C3L-01924_TP	3045521	18590420	140755553	249	8564											
HOXA6	0	.	GRCh38	chr7	27145703	27145703	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctccccgctgggctgcgtGgaattgatgagcttgttttc	4	14	12	11	2	0	2	0	2	0	0	3	3	2	3	3	2	2	4	3	2	1	4	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.657C>A	p.=	p.S219S	ENST00000222728	2/2	139	106	33	130	130	0	strelka-varscan-mutect	HOXA6,synonymous_variant,p.=,ENST00000222728,NM_024014.3;HOXA5,upstream_gene_variant,,ENST00000222726,NM_019102.3;HOXA-AS3,intron_variant,,ENST00000521197,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS3,upstream_gene_variant,,ENST00000518947,;HOXA-AS3,upstream_gene_variant,,ENST00000524304,;HOXA-AS3,upstream_gene_variant,,ENST00000521231,;HOXA6,non_coding_transcript_exon_variant,,ENST00000521478,;RP1-170O19.22,intron_variant,,ENST00000467897,;HOXA3,intron_variant,,ENST00000518451,;RP1-170O19.23,downstream_gene_variant,,ENST00000498652,;HOXA5,upstream_gene_variant,,ENST00000520854,;	T	ENST00000222728	Transcript	synonymous_variant	682/989	657/702	219/233	S	tcC/tcA		1		-1	HOXA6	HGNC	HGNC:5107	protein_coding	YES	CCDS5407.1	ENSP00000222728	P31267		UPI000012CF32	NM_024014.3			2/2		hmmpanther:PTHR24326:SF223,hmmpanther:PTHR24326																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	27145703	27145703	G	T	1	0	0	0	0	0	0	0	1	7190	1335	47	2		2	HOXA6	7	27145703	Silent	SNP	G	C3L-01924_TP	8555283	27145703	132200270	250	8565											
NEUROD6	0	.	GRCh38	chr7	31338906	31338906	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgggttttagaataacagggGaccacttttcttaagttgtc	10	15	10	6	0	1	1	0	0	1	1	2	2	1	2	1	3	1	2	1	3	4	7	rs188459254		C3L-01924_TP	C3L-01924_NB	G	G																c.363C>G	p.=	p.V121V	ENST00000297142	2/2	326	294	32	426	426	0	strelka-varscan-mutect	NEUROD6,synonymous_variant,p.=,ENST00000297142,NM_022728.3;	C	ENST00000297142	Transcript	synonymous_variant	686/2131	363/1014	121/337	V	gtC/gtG	rs188459254	1		-1	NEUROD6	HGNC	HGNC:13804	protein_coding	YES	CCDS5434.1	ENSP00000297142	Q96NK8	A0A090N7T3	UPI000000D77D	NM_022728.3			2/2		PROSITE_profiles:PS50888,hmmpanther:PTHR19290:SF9,hmmpanther:PTHR19290,Gene3D:4.10.280.10,Pfam_domain:PF00010,PIRSF_domain:PIRSF015618,SMART_domains:SM00353,Superfamily_domains:SSF47459																	LOW	1	SNV	1			1										PASS		rs188459254	.												C	2	2	29	31338906	31338906	G	C	1	0	0	0	0	0	0	0	1	10388	1161	41	4		4	NEUROD6	7	31338906	Silent	SNP	G	C3L-01924_TP	4193203	31338906	128007067	251	8566											
POLD2	0	.	GRCh38	chr7	44117625	44117625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attgggctccctacccgtaaCcagctttgacacgtcaatgg	9	10	9	13	2	1	1	1	1	0	0	2	1	2	1	3	2	3	3	3	2	3	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.565G>A	p.Val189Ile	p.V189I	ENST00000610533	4/11	180	145	35	160	159	1	strelka-varscan-mutect	POLD2,missense_variant,p.Val154Ile,ENST00000406581,NM_001256879.1;POLD2,missense_variant,p.Val154Ile,ENST00000452185,NM_001127218.2;POLD2,missense_variant,p.Val189Ile,ENST00000610533,NM_006230.3;POLD2,missense_variant,p.Val154Ile,ENST00000223361,;POLD2,missense_variant,p.Val154Ile,ENST00000433715,;POLD2,missense_variant,p.Val154Ile,ENST00000456038,;POLD2,intron_variant,,ENST00000436844,;AEBP1,downstream_gene_variant,,ENST00000223357,NM_001129.4;AEBP1,downstream_gene_variant,,ENST00000450684,;POLD2,downstream_gene_variant,,ENST00000418438,;POLD2,upstream_gene_variant,,ENST00000436400,;POLD2,downstream_gene_variant,,ENST00000481763,;POLD2,non_coding_transcript_exon_variant,,ENST00000463464,;POLD2,non_coding_transcript_exon_variant,,ENST00000470867,;POLD2,non_coding_transcript_exon_variant,,ENST00000464871,;POLD2,non_coding_transcript_exon_variant,,ENST00000467469,;POLD2,non_coding_transcript_exon_variant,,ENST00000461116,;AEBP1,downstream_gene_variant,,ENST00000413907,;POLD2,downstream_gene_variant,,ENST00000496539,;POLD2,upstream_gene_variant,,ENST00000481104,;POLD2,upstream_gene_variant,,ENST00000489883,;	T	ENST00000610533	Transcript	missense_variant	565/1619	565/1515	189/504	V/I	Gtt/Att		1		-1	POLD2	HGNC	HGNC:9176	protein_coding	YES	CCDS75586.1	ENSP00000480186		A0A087WWF6	UPI0002528875	NM_006230.3	tolerated(0.14)		4/11		hmmpanther:PTHR10416,hmmpanther:PTHR10416:SF0																	MODERATE	1	SNV	1			1										PASS		rs1248600158	.												T	3	4	29	44117625	44117625	C	T	1	0	0	0	0	1	0	0	0	12301	507	18	3		3	POLD2	7	44117625	Missense_Mutation	SNP	C	C3L-01924_TP	12778719	44117625	115228348	252	8567											
CAMK2B	0	.	GRCh38	chr7	44228925	44228925	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcagagatcctgggggCtggggtggaacagatgagac	10	7	18	6	0	1	3	1	1	0	3	2	7	2	4	1	5	1	1	1	5	1	0	rs745379322		C3L-01924_TP	C3L-01924_NB	C	C																c.1340-1G>T		p.X447_splice	ENST00000395749		88	76	12	109	109	0	strelka-varscan-mutect	CAMK2B,splice_acceptor_variant,,ENST00000395749,NM_001220.4;CAMK2B,intron_variant,,ENST00000457475,NM_172079.2;CAMK2B,intron_variant,,ENST00000350811,NM_001293170.1;CAMK2B,intron_variant,,ENST00000440254,NM_172078.2;CAMK2B,intron_variant,,ENST00000358707,NM_172081.2;CAMK2B,intron_variant,,ENST00000258682,NM_172080.2;CAMK2B,intron_variant,,ENST00000353625,NM_172083.2;CAMK2B,intron_variant,,ENST00000347193,NM_172082.2;CAMK2B,intron_variant,,ENST00000395747,;CAMK2B,intron_variant,,ENST00000346990,NM_172084.2;CAMK2B,intron_variant,,ENST00000433930,;CAMK2B,upstream_gene_variant,,ENST00000425809,;CAMK2B,non_coding_transcript_exon_variant,,ENST00000489429,;CAMK2B,intron_variant,,ENST00000497584,;CAMK2B,intron_variant,,ENST00000523845,;CAMK2B,intron_variant,,ENST00000353185,;	A	ENST00000395749	Transcript	splice_acceptor_variant	-/4447	1340/2001	447/666			rs745379322	1		-1	CAMK2B	HGNC	HGNC:1461	protein_coding	YES	CCDS5483.1	ENSP00000379098	Q13554	A4D2J9	UPI0000164A3E	NM_001220.4				18/23																		HIGH	1	SNV	1			1										PASS		rs745379322	.												A	5	1	29	44228925	44228925	C	A	1	0	0	0	0	0	0	1	0	2291	811	28	2		2	CAMK2B	7	44228925	Splice_Site	SNP	C	C3L-01924_TP	111300	44228925	115117048	253	8568											
OGDH	0	.	GRCh38	chr7	44674515	44674515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatcattgacaagtctaGtgagaatggcgtggactacg	12	9	12	8	2	2	2	1	2	1	1	2	5	2	3	1	2	1	0	1	2	4	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.893G>T	p.Ser298Ile	p.S298I	ENST00000222673	7/23	207	168	39	193	193	0	strelka-varscan-mutect	OGDH,missense_variant,p.Ser298Ile,ENST00000222673,NM_002541.3;OGDH,missense_variant,p.Ser298Ile,ENST00000631326,;OGDH,missense_variant,p.Ser294Ile,ENST00000449767,NM_001165036.1;OGDH,missense_variant,p.Ser309Ile,ENST00000447398,;OGDH,missense_variant,p.Ser313Ile,ENST00000444676,;OGDH,missense_variant,p.Ser148Ile,ENST00000439616,;OGDH,missense_variant,p.Ser298Ile,ENST00000443864,NM_001003941.2;OGDH,non_coding_transcript_exon_variant,,ENST00000459672,;OGDH,non_coding_transcript_exon_variant,,ENST00000497326,;	T	ENST00000222673	Transcript	missense_variant	935/4181	893/3072	298/1023	S/I	aGt/aTt		1		1	OGDH	HGNC	HGNC:8124	protein_coding	YES	CCDS34627.1	ENSP00000222673	Q02218		UPI000006D5FE	NM_002541.3	tolerated(0.31)		7/23		Gene3D:3.40.50.970,Pfam_domain:PF00676,PIRSF_domain:PIRSF000157,hmmpanther:PTHR23152,hmmpanther:PTHR23152:SF7,Superfamily_domains:SSF52518,TIGRFAM_domain:TIGR00239																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	44674515	44674515	G	T	1	0	0	0	0	1	0	0	0	10913	1029	36	2		2	OGDH	7	44674515	Missense_Mutation	SNP	G	C3L-01924_TP	445590	44674515	114671458	254	8569											
MYO1G	0	.	GRCh38	chr7	44965650	44965650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagtacctgcagaagagtgCgtggcaggtgtcctggaagg	9	8	17	7	1	0	2	0	0	0	2	1	3	1	3	2	4	3	4	2	4	4	2	rs755972612		C3L-01924_TP	C3L-01924_NB	C	C																c.2368G>T	p.Ala790Ser	p.A790S	ENST00000258787	17/22	121	91	30	144	144	0	strelka-varscan-mutect	MYO1G,missense_variant,p.Ala790Ser,ENST00000258787,NM_033054.2;RP4-647J21.1,upstream_gene_variant,,ENST00000568457,;MYO1G,3_prime_UTR_variant,,ENST00000495831,;MYO1G,non_coding_transcript_exon_variant,,ENST00000488554,;MYO1G,non_coding_transcript_exon_variant,,ENST00000463516,;MYO1G,non_coding_transcript_exon_variant,,ENST00000483585,;MYO1G,downstream_gene_variant,,ENST00000480503,;MYO1G,downstream_gene_variant,,ENST00000464434,;	A	ENST00000258787	Transcript	missense_variant	2505/3267	2368/3057	790/1018	A/S	Gca/Tca	rs755972612,COSM4704938	1		-1	MYO1G	HGNC	HGNC:13880	protein_coding	YES	CCDS34629.1	ENSP00000258787	B0I1T2		UPI00001D747C	NM_033054.2	tolerated(0.76)		17/22		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF381											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs755972612	.												A	3	1	29	44965650	44965650	C	A	1	0	0	0	0	1	0	0	0	10075	768	27	1		1	MYO1G	7	44965650	Missense_Mutation	SNP	C	C3L-01924_TP	291135	44965650	114380323	255	8570											
CCT6A	0	.	GRCh38	chr7	56058051	56058051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcctgatatgaagaaaaggGtggaggatgcatacatcctc	14	9	11	7	0	0	3	0	2	0	1	3	5	2	5	2	3	2	1	2	3	5	2	rs146242535		C3L-01924_TP	C3L-01924_NB	G	G																c.673G>A	p.Val225Met	p.V225M	ENST00000275603	6/14	175	142	33	169	169	0	strelka-varscan-mutect	CCT6A,missense_variant,p.Val225Met,ENST00000275603,NM_001762.3;CCT6A,missense_variant,p.Val180Met,ENST00000335503,NM_001009186.1;SNORA22,downstream_gene_variant,,ENST00000383876,;SNORA15,upstream_gene_variant,,ENST00000384439,;CCT6A,upstream_gene_variant,,ENST00000462133,;CCT6A,non_coding_transcript_exon_variant,,ENST00000482776,;CCT6A,upstream_gene_variant,,ENST00000466479,;CCT6A,upstream_gene_variant,,ENST00000492618,;CCT6A,upstream_gene_variant,,ENST00000466572,;CCT6A,upstream_gene_variant,,ENST00000494736,;CCT6A,downstream_gene_variant,,ENST00000493855,;	A	ENST00000275603	Transcript	missense_variant	892/2719	673/1596	225/531	V/M	Gtg/Atg	rs146242535	1		1	CCT6A	HGNC	HGNC:1620	protein_coding	YES	CCDS5523.1	ENSP00000275603	P40227	A0A024RDL1	UPI0000136B11	NM_001762.3	deleterious(0.05)		6/14		hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF58,Pfam_domain:PF00118,Gene3D:3.50.7.10,TIGRFAM_domain:TIGR02347,Superfamily_domains:SSF52029																	MODERATE	1	SNV	1			1										PASS		rs146242535	.												A	3	1	29	56058051	56058051	G	A	1	0	0	0	0	1	0	0	0	2658	1261	44	3		3	CCT6A	7	56058051	Missense_Mutation	SNP	G	C3L-01924_TP	11092401	56058051	103287922	256	8571											
ZNF736	0	.	GRCh38	chr7	64348620	64348620	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacacaagagaaatcatactGgagacagaccctacaaatgt	19	6	7	9	0	1	3	1	0	0	3	1	5	1	3	1	1	3	0	1	1	6	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.757G>T	p.Gly253Ter	p.G253*	ENST00000423484	4/4	170	137	33	199	198	1	strelka-varscan-mutect	ZNF736,stop_gained,p.Gly253Ter,ENST00000423484,NM_001170905.2;ZNF736,stop_gained,p.Gly253Ter,ENST00000355095,;	T	ENST00000423484	Transcript	stop_gained	879/7119	757/1284	253/427	G/*	Gga/Tga		1		1	ZNF736	HGNC	HGNC:32467	protein_coding	YES	CCDS55114.1	ENSP00000400852	B4DX44		UPI0001662442	NM_001170905.2			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF98,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	29	64348620	64348620	G	T	1	0	0	0	0	0	1	0	0	18707	1349	47	2		2	ZNF736	7	64348620	Nonsense_Mutation	SNP	G	C3L-01924_TP	8290569	64348620	94997353	257	8572											
HGF	0	.	GRCh38	chr7	81705658	81705658	+	Frame_Shift_Del	DEL	C	C	-																															ctagcttacatccagtgtagCcccagccataaacactgcaa																								rs771594786		C3L-01924_TP	C3L-01924_NB	C	C																c.1853delG	p.Gly618AlafsTer5	p.G618Afs*5	ENST00000222390	16/18	390	317	73	417	416	1	sindel-varindel-pindel	HGF,frameshift_variant,p.Gly618AlafsTer5,ENST00000222390,NM_000601.4;HGF,frameshift_variant,p.Gly613AlafsTer5,ENST00000457544,NM_001010932.1;	-	ENST00000222390	Transcript	frameshift_variant	2080/5989	1853/2187	618/728	G/X	gGc/gc	rs771594786	1		-1	HGF	HGNC	HGNC:4893	protein_coding	YES	CCDS5597.1	ENSP00000222390	P14210		UPI000000D92B	NM_000601.4			16/18		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF190,hmmpanther:PTHR24256,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	29	81705658	81705658	C	-	1	0	1	0	1	0	0	0	0	6969	739	26	0		0	HGF	7	81705658	Frame_Shift_Del	DEL	C	C3L-01924_TP	17357038	81705658	77640315	258	8573											
HGF	0	.	GRCh38	chr7	81769936	81769936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgcaggaggacatgctgCagcagcagggctggcaggag	11	4	18	8	0	0	1	0	0	0	1	0	4	0	4	0	5	5	7	0	5	0	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.36G>A	p.=	p.L12L	ENST00000222390	1/18	362	317	45	342	341	1	strelka-varscan-mutect	HGF,synonymous_variant,p.=,ENST00000222390,NM_000601.4;HGF,synonymous_variant,p.=,ENST00000457544,NM_001010932.1;HGF,synonymous_variant,p.=,ENST00000423064,NM_001010934.1;HGF,synonymous_variant,p.=,ENST00000354224,;HGF,synonymous_variant,p.=,ENST00000444829,NM_001010931.1;HGF,synonymous_variant,p.=,ENST00000453411,NM_001010933.1;HGF,synonymous_variant,p.=,ENST00000412881,;HGF,synonymous_variant,p.=,ENST00000421558,;HGF,non_coding_transcript_exon_variant,,ENST00000465234,;	T	ENST00000222390	Transcript	synonymous_variant	263/5989	36/2187	12/728	L	ctG/ctA		1		-1	HGF	HGNC	HGNC:4893	protein_coding	YES	CCDS5597.1	ENSP00000222390	P14210		UPI000000D92B	NM_000601.4			1/18		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	81769936	81769936	C	T	1	0	0	0	0	0	0	0	1	6969	697	25	3		3	HGF	7	81769936	Silent	SNP	C	C3L-01924_TP	64278	81769936	77576037	259	8574											
PCLO	0	.	GRCh38	chr7	82955057	82955057	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccatctaccgatccatTgtacgtgtcttctactaaag	10	13	6	12	2	3	0	0	0	3	0	4	1	4	0	3	0	4	1	3	0	5	6	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.5896A>T	p.Asn1966Tyr	p.N1966Y	ENST00000333891	5/25	251	185	66	316	316	0	strelka-varscan-mutect	PCLO,missense_variant,p.Asn1966Tyr,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Asn1966Tyr,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	A	ENST00000333891	Transcript	missense_variant	6234/20329	5896/15429	1966/5142	N/Y	Aat/Tat		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	deleterious(0.03)		5/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	29	82955057	82955057	T	A	1	0	0	0	0	1	0	0	0	11671	1812	63	4		4	PCLO	7	82955057	Missense_Mutation	SNP	T	C3L-01924_TP	1185121	82955057	76390916	260	8575											
ZNF804B	0	.	GRCh38	chr7	89333707	89333707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagttttcagtgagaacaCagaagaaacccatgattgta	16	10	8	7	0	2	4	2	2	0	3	2	5	2	4	1	0	2	2	1	0	4	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.725C>G	p.Thr242Arg	p.T242R	ENST00000333190	4/4	180	171	9	231	231	0	strelka-varscan-mutect	ZNF804B,missense_variant,p.Thr242Arg,ENST00000333190,NM_181646.3;ZNF804B,missense_variant,p.Thr159Arg,ENST00000611114,;	G	ENST00000333190	Transcript	missense_variant	1334/4659	725/4050	242/1349	T/R	aCa/aGa		1		1	ZNF804B	HGNC	HGNC:21958	protein_coding	YES	CCDS5613.1	ENSP00000329638	A4D1E1		UPI00001A92D2	NM_181646.3	deleterious(0)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	89333707	89333707	C	G	1	0	0	0	0	1	0	0	0	18756	478	17	4		4	ZNF804B	7	89333707	Missense_Mutation	SNP	C	C3L-01924_TP	6378650	89333707	70012266	261	8576											
FZD1	0	.	GRCh38	chr7	91266042	91266042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaatgacaagttcgccgagGacggggcacgcactgtggcg	9	6	16	10	5	0	1	0	1	0	0	1	3	0	2	1	4	0	4	1	4	2	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1162G>T	p.Asp388Tyr	p.D388Y	ENST00000287934	1/1	238	181	57	232	232	0	strelka-varscan-mutect	FZD1,missense_variant,p.Asp388Tyr,ENST00000287934,NM_003505.1;	T	ENST00000287934	Transcript	missense_variant	1679/6963	1162/1944	388/647	D/Y	Gac/Tac		1		1	FZD1	HGNC	HGNC:4038	protein_coding	YES	CCDS5620.1	ENSP00000287934	Q9UP38		UPI000005104D	NM_003505.1	tolerated(0.05)		1/1		PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF81,Pfam_domain:PF01534,SMART_domains:SM01330																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	29	91266042	91266042	G	T	1	0	0	0	0	1	0	0	0	5999	1174	41	2		2	FZD1	7	91266042	Missense_Mutation	SNP	G	C3L-01924_TP	1932335	91266042	68079931	262	8577											
DYNC1I1	0	.	GRCh38	chr7	96035698	96035698	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaacgggagacgtcaataActtcgtggttggcagtgagg	10	8	14	9	3	1	2	1	1	0	1	2	3	1	2	1	4	2	2	1	4	3	3	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.1361A>C	p.Asn454Thr	p.N454T	ENST00000324972	13/17	208	196	12	215	215	0	strelka-mutect	DYNC1I1,missense_variant,p.Asn454Thr,ENST00000324972,NM_004411.4;DYNC1I1,missense_variant,p.Asn437Thr,ENST00000447467,NM_001135556.1;DYNC1I1,missense_variant,p.Asn434Thr,ENST00000437599,NM_001278421.1;DYNC1I1,missense_variant,p.Asn417Thr,ENST00000359388,NM_001135557.1;DYNC1I1,missense_variant,p.Asn437Thr,ENST00000457059,;DYNC1I1,missense_variant,p.Asn417Thr,ENST00000630942,NM_001278422.1;DYNC1I1,missense_variant,p.Asn359Thr,ENST00000537881,;DYNC1I1,non_coding_transcript_exon_variant,,ENST00000497626,;	C	ENST00000324972	Transcript	missense_variant	1554/2950	1361/1938	454/645	N/T	aAc/aCc		1		1	DYNC1I1	HGNC	HGNC:2963	protein_coding	YES	CCDS5644.1	ENSP00000320130	O14576	A4D1I7	UPI0000129A01	NM_004411.4	deleterious(0)		13/17		PROSITE_profiles:PS50294,hmmpanther:PTHR12442:SF34,hmmpanther:PTHR12442,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	96035698	96035698	A	C	1	0	0	0	0	1	0	0	0	4666	43	2	5		5	DYNC1I1	7	96035698	Missense_Mutation	SNP	A	C3L-01924_TP	4769656	96035698	63310275	263	8578											
MUC12	0	.	GRCh38	chr7	100991998	100991998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctcaatggaaaccacaGcgttacccggcagtaccaca	13	5	9	14	2	1	0	1	0	0	0	1	1	1	1	3	3	4	4	3	3	4	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1435G>T	p.Ala479Ser	p.A479S	ENST00000536621	2/12	502	426	76	501	498	3	strelka-varscan-mutect	MUC12,missense_variant,p.Ala622Ser,ENST00000379442,;MUC12,missense_variant,p.Ala479Ser,ENST00000536621,NM_001164462.1;	T	ENST00000536621	Transcript	missense_variant	1435/16321	1435/16008	479/5335	A/S	Gcg/Tcg		1		1	MUC12	HGNC	HGNC:7510	protein_coding	YES	CCDS55139.1	ENSP00000441929	Q9UKN1		UPI0001B25898	NM_001164462.1	tolerated(0.1)		2/12																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	29	100991998	100991998	G	T	1	0	0	0	0	1	0	0	0	9969	971	34	2		2	MUC12	7	100991998	Missense_Mutation	SNP	G	C3L-01924_TP	4956300	100991998	58353975	264	8579											
MUC17	0	.	GRCh38	chr7	101035100	101035100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagtatgcctgtcagacaCacgccagtggccagttctga	11	8	10	12	1	2	2	1	1	1	1	2	2	2	2	3	1	1	2	3	1	2	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.3684C>A	p.His1228Gln	p.H1228Q	ENST00000306151	3/13	140	113	27	202	201	1	strelka-varscan-mutect	MUC17,missense_variant,p.His1228Gln,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.His1228Gln,ENST00000379439,;	A	ENST00000306151	Transcript	missense_variant	3748/14247	3684/13482	1228/4493	H/Q	caC/caA		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	deleterious(0.02)		3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	101035100	101035100	C	A	1	0	0	0	0	1	0	0	0	9973	477	17	2		2	MUC17	7	101035100	Missense_Mutation	SNP	C	C3L-01924_TP	43102	101035100	58310873	265	8580											
MUC17	0	.	GRCh38	chr7	101048008	101048008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagatgggtgccagaataCggcctctcgctgcaagaatg	10	8	14	9	2	1	3	0	0	1	3	2	4	1	3	2	3	3	2	2	3	4	1	rs375341069		C3L-01924_TP	C3L-01924_NB	C	C																c.12428C>A	p.Thr4143Lys	p.T4143K	ENST00000306151	4/13	83	72	11	80	80	0	strelka-varscan-mutect	MUC17,missense_variant,p.Thr4143Lys,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr4143Lys,ENST00000379439,;MUC17,non_coding_transcript_exon_variant,,ENST00000470303,;MUC17,upstream_gene_variant,,ENST00000497859,;	A	ENST00000306151	Transcript	missense_variant	12492/14247	12428/13482	4143/4493	T/K	aCg/aAg	rs375341069	1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	tolerated(0.18)		4/13		PROSITE_profiles:PS50026,hmmpanther:PTHR37999:SF1,hmmpanther:PTHR37999,Gene3D:2.10.25.10																	MODERATE	1	SNV	1			1										PASS		rs375341069	.												A	3	1	29	101048008	101048008	C	A	1	0	0	0	0	1	0	0	0	9973	536	19	1		1	MUC17	7	101048008	Missense_Mutation	SNP	C	C3L-01924_TP	12908	101048008	58297965	266	8581											
PSMC2	0	.	GRCh38	chr7	103367412	103367412	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttccttttgtcttctcaGgggctcgttttgatgatggt	3	20	10	8	1	3	2	1	2	3	0	6	2	4	2	1	3	0	2	1	3	0	6	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.845-1G>T		p.X282_splice	ENST00000435765		186	170	16	186	186	0	strelka-varscan-mutect	PSMC2,splice_acceptor_variant,,ENST00000435765,;PSMC2,splice_acceptor_variant,,ENST00000292644,NM_002803.3;SLC26A5,intron_variant,,ENST00000339444,NM_206883.2;SLC26A5,intron_variant,,ENST00000393735,NM_206884.2;SLC26A5,intron_variant,,ENST00000356767,NM_206885.2;PSMC2,downstream_gene_variant,,ENST00000460021,;	T	ENST00000435765	Transcript	splice_acceptor_variant	-/3054	845/1302	282/433				1		1	PSMC2	HGNC	HGNC:9548	protein_coding	YES	CCDS5731.1	ENSP00000391211	P35998	A0A140VK70	UPI000013237A					10/12																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	29	103367412	103367412	G	T	1	0	0	0	0	0	0	1	0	12837	1014	35	2		2	PSMC2	7	103367412	Splice_Site	SNP	G	C3L-01924_TP	2319404	103367412	55978561	267	8582											
PIK3CG	0	.	GRCh38	chr7	106874795	106874795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctggactgaaagcaggaGcgctggcagtaggtatcact	11	8	13	9	1	1	1	1	1	0	0	2	3	2	3	1	4	2	5	1	4	3	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2383G>A	p.Ala795Thr	p.A795T	ENST00000359195	5/11	128	92	36	102	102	0	strelka-varscan-mutect	PIK3CG,missense_variant,p.Ala795Thr,ENST00000359195,NM_002649.3;PIK3CG,missense_variant,p.Ala795Thr,ENST00000496166,NM_001282426.1;PIK3CG,missense_variant,p.Ala795Thr,ENST00000440650,NM_001282427.1;PIK3CG,missense_variant,p.Ala68Thr,ENST00000473541,;	A	ENST00000359195	Transcript	missense_variant	2693/5377	2383/3309	795/1102	A/T	Gcg/Acg		1		1	PIK3CG	HGNC	HGNC:8978	protein_coding	YES	CCDS5739.1	ENSP00000352121	P48736	A0A024R720	UPI00000746B8	NM_002649.3	tolerated(0.69)		5/11		hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,Gene3D:3.30.1010.10,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs945222564	.												A	3	1	29	106874795	106874795	G	A	1	0	0	0	0	1	0	0	0	12011	971	34	3		3	PIK3CG	7	106874795	Missense_Mutation	SNP	G	C3L-01924_TP	3507383	106874795	52471178	268	8583											
PPP1R3A	0	.	GRCh38	chr7	113882300	113882300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagttattttcttctgatGttactgatgattcttcttta	9	21	5	6	0	4	3	0	3	4	0	4	3	4	3	0	0	1	2	0	0	4	9	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.803C>A	p.Thr268Lys	p.T268K	ENST00000284601	2/4	230	180	50	255	255	0	strelka-varscan-mutect	PPP1R3A,missense_variant,p.Thr268Lys,ENST00000284601,NM_002711.3;PPP1R3A,5_prime_UTR_variant,,ENST00000449795,;PPP1R3A,3_prime_UTR_variant,,ENST00000284602,;	T	ENST00000284601	Transcript	missense_variant	872/4384	803/3369	268/1122	T/K	aCa/aAa		1		-1	PPP1R3A	HGNC	HGNC:9291	protein_coding	YES	CCDS5759.1	ENSP00000284601	Q16821		UPI000013DDAA	NM_002711.3	deleterious(0)		2/4		hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	113882300	113882300	G	T	1	0	0	0	0	1	0	0	0	12492	1377	48	2		2	PPP1R3A	7	113882300	Missense_Mutation	SNP	G	C3L-01924_TP	7007505	113882300	45463673	269	8584											
WNT2	0	.	GRCh38	chr7	117297774	117297774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctccagagataatcgcCcgttttcctgaagtcggcca	8	11	8	14	3	0	2	0	1	0	1	5	3	3	2	5	1	0	1	5	1	2	4	rs750454001		C3L-01924_TP	C3L-01924_NB	C	C																c.691G>T	p.Gly231Cys	p.G231C	ENST00000265441	4/5	171	155	16	166	166	0	strelka-varscan-mutect	WNT2,missense_variant,p.Gly231Cys,ENST00000265441,NM_003391.2;WNT2,missense_variant,p.Gly138Val,ENST00000491214,;AC002465.2,upstream_gene_variant,,ENST00000436097,;WNT2,3_prime_UTR_variant,,ENST00000449446,;	A	ENST00000265441	Transcript	missense_variant	991/2907	691/1083	231/360	G/C	Ggc/Tgc	rs750454001	1		-1	WNT2	HGNC	HGNC:12780	protein_coding	YES	CCDS5771.1	ENSP00000265441	P09544		UPI0000051044	NM_003391.2	deleterious(0)		4/5		hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF86,Pfam_domain:PF00110,SMART_domains:SM00097																	MODERATE	1	SNV	1			1										PASS		rs750454001	.												A	3	1	29	117297774	117297774	C	A	1	0	0	0	0	1	0	0	0	17942	623	22	2		2	WNT2	7	117297774	Missense_Mutation	SNP	C	C3L-01924_TP	3415474	117297774	42048199	270	8585											
PTPRZ1	0	.	GRCh38	chr7	122011909	122011909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacctgtgcatgattctgtgGgtgtaacttatcagggttcc	7	15	11	8	0	2	1	1	1	1	0	3	1	3	1	2	2	3	3	2	2	3	5	rs763354591		C3L-01924_TP	C3L-01924_NB	G	G																c.2863G>T	p.Gly955Cys	p.G955C	ENST00000393386	12/30	284	209	75	381	380	1	strelka-varscan-mutect	PTPRZ1,missense_variant,p.Gly955Cys,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,intron_variant,,ENST00000449182,NM_001206839.1;PTPRZ1,intron_variant,,ENST00000483028,;	T	ENST00000393386	Transcript	missense_variant	3274/8175	2863/6948	955/2315	G/C	Ggt/Tgt	rs763354591,COSM1222725,COSM1222726	1		1	PTPRZ1	HGNC	HGNC:9685	protein_coding	YES	CCDS34740.1	ENSP00000377047	P23471		UPI000020F9BB	NM_001206838.1,NM_002851.2	deleterious_low_confidence(0.01)		12/30													0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs763354591	.												T	3	4	29	122011909	122011909	G	T	1	0	0	0	0	1	0	0	0	12969	1232	43	2		2	PTPRZ1	7	122011909	Missense_Mutation	SNP	G	C3L-01924_TP	4714135	122011909	37334064	271	8586											
FEZF1	0	.	GRCh38	chr7	122304345	122304345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgattcgttcaatggaGaaagccaagggtttggacgt	11	10	13	7	2	1	2	1	1	0	1	2	4	1	3	2	3	1	2	2	3	3	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.93C>A	p.Phe31Leu	p.F31L	ENST00000442488	1/4	41	31	10	43	43	0	strelka-varscan-mutect	FEZF1,missense_variant,p.Phe31Leu,ENST00000442488,NM_001024613.3;FEZF1,missense_variant,p.Phe31Leu,ENST00000427185,NM_001160264.2;FEZF1,missense_variant,p.Phe31Leu,ENST00000418046,;FEZF1-AS1,intron_variant,,ENST00000428449,;FEZF1-AS1,upstream_gene_variant,,ENST00000437317,;FEZF1-AS1,upstream_gene_variant,,ENST00000424404,;	T	ENST00000442488	Transcript	missense_variant	161/2099	93/1428	31/475	F/L	ttC/ttA		1		-1	FEZF1	HGNC	HGNC:22788	protein_coding	YES	CCDS34741.2	ENSP00000411145	A0PJY2		UPI00004193D6	NM_001024613.3	deleterious(0)		1/4																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	122304345	122304345	G	T	1	0	0	0	0	1	0	0	0	5688	933	33	2		2	FEZF1	7	122304345	Missense_Mutation	SNP	G	C3L-01924_TP	292436	122304345	37041628	272	8587											
TMEM140	0	.	GRCh38	chr7	135164529	135164529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtcatctgcctgatgtttTacgctcttctctgggaggct	4	16	11	10	1	4	1	1	1	3	0	5	2	4	2	1	3	2	3	1	3	1	3	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.88T>C	p.Tyr30His	p.Y30H	ENST00000275767	2/2	105	96	9	131	131	0	strelka-varscan-mutect	TMEM140,missense_variant,p.Tyr30His,ENST00000275767,NM_018295.4;C7orf49,downstream_gene_variant,,ENST00000424142,;C7orf49,downstream_gene_variant,,ENST00000617987,NM_001243751.1,NM_001243753.1,NM_001243749.1,NM_001243752.1;C7orf49,downstream_gene_variant,,ENST00000430372,;C7orf49,downstream_gene_variant,,ENST00000393114,NM_024033.3;C7orf49,downstream_gene_variant,,ENST00000620897,NM_001243755.1;C7orf49,downstream_gene_variant,,ENST00000483029,NM_001243754.1;RP11-134L10.1,upstream_gene_variant,,ENST00000608819,;C7orf49,intron_variant,,ENST00000459937,;C7orf49,downstream_gene_variant,,ENST00000472428,;C7orf49,downstream_gene_variant,,ENST00000477820,;C7orf49,downstream_gene_variant,,ENST00000488161,;C7orf49,downstream_gene_variant,,ENST00000481410,;C7orf49,downstream_gene_variant,,ENST00000487774,;C7orf49,downstream_gene_variant,,ENST00000486115,;	C	ENST00000275767	Transcript	missense_variant	311/1997	88/558	30/185	Y/H	Tac/Cac		1		1	TMEM140	HGNC	HGNC:21870	protein_coding	YES	CCDS5837.1	ENSP00000275767	Q9NV12		UPI000045760C	NM_018295.4	deleterious(0.03)		2/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR16103:SF0,hmmpanther:PTHR16103,Pfam_domain:PF14985																	MODERATE	1	SNV	1			1										PASS		rs1489262160	.												C	3	2	29	135164529	135164529	T	C	1	0	0	0	0	1	0	0	0	16500	1754	61	5		5	TMEM140	7	135164529	Missense_Mutation	SNP	T	C3L-01924_TP	12860184	135164529	24181444	273	8588											
CLCN1	0	.	GRCh38	chr7	143345609	143345609	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcgcaggctgcgcgcAgcccaagagatggcgcggaa	9	3	16	13	5	0	2	0	1	0	1	0	4	0	3	2	3	3	3	2	3	2	0	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.2019A>T	p.=	p.A673A	ENST00000343257	17/23	166	141	25	141	141	0	strelka-varscan-mutect	CLCN1,synonymous_variant,p.=,ENST00000343257,NM_000083.2;	T	ENST00000343257	Transcript	synonymous_variant	2106/3172	2019/2967	673/988	A	gcA/gcT		1		1	CLCN1	HGNC	HGNC:2019	protein_coding	YES	CCDS5881.1	ENSP00000339867	P35523		UPI000020F1EC	NM_000083.2			17/23		hmmpanther:PTHR11689:SF29,hmmpanther:PTHR11689																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	143345609	143345609	A	T	1	0	0	0	0	0	0	0	1	3226	175	7	4		4	CLCN1	7	143345609	Silent	SNP	A	C3L-01924_TP	8181080	143345609	16000364	274	8589											
OR6B1	0	.	GRCh38	chr7	144004614	144004614	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcctggcactggtcatCttcctattcccactctttat	6	18	4	13	0	3	0	1	0	2	0	6	0	6	0	3	2	0	1	3	2	3	7			C3L-01924_TP	C3L-01924_NB	C	C																c.618C>A	p.=	p.I206I	ENST00000408922	1/1	373	281	92	418	417	1	strelka-varscan-mutect	OR6B1,synonymous_variant,p.=,ENST00000408922,NM_001005281.1;	A	ENST00000408922	Transcript	synonymous_variant	686/1055	618/936	206/311	I	atC/atA	COSM745117	1		1	OR6B1	HGNC	HGNC:8354	protein_coding	YES	CCDS43667.1	ENSP00000386151	O95007		UPI0000041B18	NM_001005281.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF284,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						LOW	1	SNV			1	1										PASS		.	.												A	2	1	29	144004614	144004614	C	A	1	0	0	0	0	0	0	0	1	11255	903	32	2		2	OR6B1	7	144004614	Silent	SNP	C	C3L-01924_TP	659005	144004614	15341359	275	8590											
CNTNAP2	0	.	GRCh38	chr7	147108301	147108301	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaggacagcaaggagattaCattaccttggaactgaaaaa	18	7	10	6	0	0	2	0	1	0	1	0	6	0	4	1	3	4	1	1	3	7	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.705C>A	p.Tyr235Ter	p.Y235*	ENST00000361727	5/24	194	176	18	173	173	0	strelka-varscan-mutect	CNTNAP2,stop_gained,p.Tyr235Ter,ENST00000361727,NM_014141.5;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637694,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637825,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636561,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637150,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637555,;	A	ENST00000361727	Transcript	stop_gained	1223/9896	705/3996	235/1331	Y/*	taC/taA		1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5			5/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644,SMART_domains:SM00282,Superfamily_domains:SSF49899																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	29	147108301	147108301	C	A	1	0	0	0	0	0	1	0	0	3428	489	17	2		2	CNTNAP2	7	147108301	Nonsense_Mutation	SNP	C	C3L-01924_TP	3103687	147108301	12237672	276	8591											
CNTNAP2	0	.	GRCh38	chr7	148172452	148172452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgattgctctaatactgCatatgatggaacattttgca	11	14	8	8	1	1	1	0	1	1	0	1	3	1	2	0	1	6	3	0	1	4	6	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2984C>A	p.Ala995Glu	p.A995E	ENST00000361727	18/24	376	281	95	398	398	0	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Ala995Glu,ENST00000361727,NM_014141.5;CNTNAP2,missense_variant,p.Ala54Glu,ENST00000628930,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637020,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000627772,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636988,;CNTNAP2,downstream_gene_variant,,ENST00000631199,;	A	ENST00000361727	Transcript	missense_variant	3502/9896	2984/3996	995/1331	A/E	gCa/gAa		1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	deleterious(0)		18/24		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644,SMART_domains:SM00181,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	148172452	148172452	C	A	1	0	0	0	0	1	0	0	0	3428	710	25	2		2	CNTNAP2	7	148172452	Missense_Mutation	SNP	C	C3L-01924_TP	1064151	148172452	11173521	277	8592											
SSPO	0	.	GRCh38	chr7	149803504	149803504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcccccggggctccttctgCatgacactcgctgcctgccc	3	9	10	19	2	1	1	0	1	1	0	4	1	3	1	5	2	3	3	5	2	0	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.7996C>T	p.His2666Tyr	p.H2666Y	ENST00000378016	53/107	77	70	7	59	59	0	strelka-varscan-mutect	SSPO,missense_variant,p.His2666Tyr,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,downstream_gene_variant,,ENST00000475488,;	T	ENST00000378016	Transcript	missense_variant	7996/15589	7996/15453	2666/5150	H/Y	Cat/Tat		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2	tolerated(0.16)		53/107		Pfam_domain:PF01826,Gene3D:2.10.25.10,Superfamily_domains:SSF57567																	MODERATE	1	SNV	5			1										PASS		rs1300279600	.												T	3	4	29	149803504	149803504	C	T	1	0	0	0	0	1	0	0	0	15566	710	25	3		3	SSPO	7	149803504	Missense_Mutation	SNP	C	C3L-01924_TP	1631052	149803504	9542469	278	8593											
SSPO	0	.	GRCh38	chr7	149815269	149815269	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgtgccagccaggctcTgtgggctgccagcccacttg	5	9	14	13	0	1	0	0	0	1	0	1	0	1	0	4	2	4	2	4	2	0	1	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.10680T>C	p.=	p.S3560S	ENST00000378016	74/107	89	70	19	59	59	0	strelka-varscan-mutect	SSPO,synonymous_variant,p.=,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,downstream_gene_variant,,ENST00000481772,;	C	ENST00000378016	Transcript	synonymous_variant	10680/15589	10680/15453	3560/5150	S	tcT/tcC		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2			74/107		Pfam_domain:PF01826,Gene3D:2.10.25.10,hmmpanther:PTHR11339:SF294,hmmpanther:PTHR11339																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	29	149815269	149815269	T	C	1	0	0	0	0	0	0	0	1	15566	1567	55	5		5	SSPO	7	149815269	Silent	SNP	T	C3L-01924_TP	11765	149815269	9530704	279	8594											
GIMAP8	0	.	GRCh38	chr7	150477734	150477734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaaaatgtccaggaaatgtCccaagccgaaaaactcctta	17	8	6	10	1	0	0	0	0	0	0	3	2	3	1	4	1	2	0	4	1	8	2			C3L-01924_TP	C3L-01924_NB	C	C																c.1952C>A	p.Ser651Tyr	p.S651Y	ENST00000307271	5/5	188	167	21	197	196	1	strelka-varscan-mutect	GIMAP8,missense_variant,p.Ser651Tyr,ENST00000307271,NM_175571.3;	A	ENST00000307271	Transcript	missense_variant	2526/4184	1952/1998	651/665	S/Y	tCc/tAc	COSM3832274	1		1	GIMAP8	HGNC	HGNC:21792	protein_coding	YES	CCDS34777.1	ENSP00000305107	Q8ND71	A0A090N8H2	UPI0000168646	NM_175571.3	tolerated(0.12)		5/5		hmmpanther:PTHR10903:SF73,hmmpanther:PTHR10903,Pfam_domain:PF04548											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	29	150477734	150477734	C	A	1	0	0	0	0	1	0	0	0	6265	855	30	2		2	GIMAP8	7	150477734	Missense_Mutation	SNP	C	C3L-01924_TP	662465	150477734	8868239	280	8595											
KMT2C	0	.	GRCh38	chr7	152273779	152273779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatcctgaaaggtgccggctCctgcagcacaaggataatga	13	7	11	10	1	0	2	0	2	0	0	2	3	2	3	3	3	3	3	3	3	4	1	rs771643713		C3L-01924_TP	C3L-01924_NB	C	C																c.938G>C	p.Gly313Ala	p.G313A	ENST00000262189	7/59	472	443	29	441	441	0	varscan-mutect	KMT2C,missense_variant,p.Gly313Ala,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Gly313Ala,ENST00000355193,;KMT2C,missense_variant,p.Gly313Ala,ENST00000558084,;	G	ENST00000262189	Transcript	missense_variant	1157/16862	938/14736	313/4911	G/A	gGa/gCa	rs771643713	1		-1	KMT2C	HGNC	HGNC:13726	protein_coding	YES	CCDS5931.1	ENSP00000262189	Q8NEZ4		UPI0000141B9F	NM_170606.2	tolerated(0.88)		7/59		Pfam_domain:PF13771,SMART_domains:SM00249																	MODERATE	1	SNV	1			1										PASS		rs771643713	.												G	3	3	29	152273779	152273779	C	G	1	0	0	0	0	1	0	0	0	8297	855	30	4		4	KMT2C	7	152273779	Missense_Mutation	SNP	C	C3L-01924_TP	1796045	152273779	7072194	281	8596											
UBE3C	0	.	GRCh38	chr7	157256991	157256991	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgatgaagaaaagcgcAaactgctgaagtttgtaaca	16	9	9	7	1	1	4	1	3	0	1	1	4	1	4	0	0	4	4	0	0	6	2	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.3028A>G	p.Lys1010Glu	p.K1010E	ENST00000348165	22/23	246	173	73	244	244	0	strelka-varscan-mutect	UBE3C,missense_variant,p.Lys1010Glu,ENST00000348165,NM_014671.2;UBE3C,non_coding_transcript_exon_variant,,ENST00000470408,;UBE3C,non_coding_transcript_exon_variant,,ENST00000474153,;	G	ENST00000348165	Transcript	missense_variant	3388/5229	3028/3252	1010/1083	K/E	Aaa/Gaa		1		1	UBE3C	HGNC	HGNC:16803	protein_coding	YES	CCDS34789.1	ENSP00000309198	Q15386		UPI000020E72A	NM_014671.2	deleterious(0.03)		22/23		Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF336,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	157256991	157256991	A	G	1	0	0	0	0	1	0	0	0	17404	131	5	5		5	UBE3C	7	157256991	Missense_Mutation	SNP	A	C3L-01924_TP	4983212	157256991	2088982	282	8597											
CSMD1	0	.	GRCh38	chr8	4032036	4032036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtctcctatgttgaatCtcgttccatgcagaactcct	7	17	6	11	1	2	2	0	1	2	1	6	2	4	2	3	0	2	3	3	0	3	5	rs866901808		C3L-01924_TP	C3L-01924_NB	C	C																c.479G>T	p.Arg160Ile	p.R160I	ENST00000520002	4/71	170	149	21	225	225	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Arg22Ile,ENST00000537824,;CSMD1,missense_variant,p.Arg160Ile,ENST00000520002,;CSMD1,missense_variant,p.Arg160Ile,ENST00000602557,;CSMD1,missense_variant,p.Arg160Ile,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Arg160Ile,ENST00000400186,;CSMD1,missense_variant,p.Arg160Ile,ENST00000602723,;	A	ENST00000520002	Transcript	missense_variant	1035/11740	479/10698	160/3565	R/I	aGa/aTa	rs866901808	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		tolerated(0.05)		4/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		rs866901808	.												A	3	1	29	4032036	4032036	C	A	1	0	0	0	0	1	0	0	0	3745	913	32	2		2	CSMD1	8	4032036	Missense_Mutation	SNP	C	C3L-01924_TP		4032036	141106600	283	8598											
STMN4	0	.	GRCh38	chr8	27241111	27241111	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcttccagggatgggtcTcgccgccttggcagggaggc	5	9	15	12	2	2	0	0	0	2	0	5	2	3	2	3	5	0	1	3	5	0	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.342A>G	p.=	p.R114R	ENST00000350889	5/7	85	76	9	160	160	0	strelka-varscan-mutect	STMN4,synonymous_variant,p.=,ENST00000350889,NM_030795.3;STMN4,synonymous_variant,p.=,ENST00000519997,NM_001283055.1;STMN4,synonymous_variant,p.=,ENST00000519614,;STMN4,synonymous_variant,p.=,ENST00000265770,NM_001283054.1;STMN4,synonymous_variant,p.=,ENST00000523048,NM_001283053.1;STMN4,synonymous_variant,p.=,ENST00000522908,;STMN4,downstream_gene_variant,,ENST00000522750,;	C	ENST00000350889	Transcript	synonymous_variant	456/2288	342/651	114/216	R	cgA/cgG		1		-1	STMN4	HGNC	HGNC:16078	protein_coding	YES	CCDS6055.1	ENSP00000342538	Q9H169		UPI000002B451	NM_030795.3			5/7		Superfamily_domains:0043535,Pfam_domain:PF00836,PIRSF_domain:PIRSF002285,Prints_domain:PR00345,PROSITE_patterns:PS00563,PROSITE_profiles:PS51663,hmmpanther:PTHR10104,hmmpanther:PTHR10104:SF6																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	29	27241111	27241111	T	C	1	0	0	0	0	0	0	0	1	15689	1538	54	5		5	STMN4	8	27241111	Silent	SNP	T	C3L-01924_TP	23209075	27241111	117897525	284	8599											
KCNU1	0	.	GRCh38	chr8	36840543	36840543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaacgtctctctgatgaCtttgctggaatgagctttcc	8	13	8	12	1	2	3	0	3	2	0	4	4	3	4	2	1	3	2	2	1	2	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1599C>A	p.Asp533Glu	p.D533E	ENST00000399881	15/27	121	110	11	174	173	1	strelka-varscan-mutect	KCNU1,missense_variant,p.Asp533Glu,ENST00000399881,NM_001031836.2;KCNU1,missense_variant,p.Asp533Glu,ENST00000522372,;	A	ENST00000399881	Transcript	missense_variant	1636/3695	1599/3450	533/1149	D/E	gaC/gaA		1		1	KCNU1	HGNC	HGNC:18867	protein_coding	YES	CCDS55220.1	ENSP00000382770	A8MYU2		UPI0000F079EF	NM_001031836.2	deleterious(0.01)		15/27		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF23,Pfam_domain:PF03493																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	29	36840543	36840543	C	A	1	0	0	0	0	1	0	0	0	8009	564	20	2		2	KCNU1	8	36840543	Missense_Mutation	SNP	C	C3L-01924_TP	9599432	36840543	108298093	285	8600											
SPIDR	0	.	GRCh38	chr8	47700403	47700403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttgacttttcttgttccagGacagcggggattttcagttt	6	18	10	7	1	2	1	1	1	1	0	3	3	3	3	1	3	1	2	1	3	0	8	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1686G>C	p.Arg562Ser	p.R562S	ENST00000297423	12/20	225	212	13	272	272	0	strelka-mutect	SPIDR,missense_variant,p.Arg562Ser,ENST00000297423,NM_001080394.3;SPIDR,missense_variant,p.Arg492Ser,ENST00000541342,NM_001282916.1;SPIDR,missense_variant,p.Arg502Ser,ENST00000518074,NM_001282919.1;SPIDR,missense_variant,p.Arg244Ser,ENST00000519401,;SPIDR,missense_variant,p.Arg37Ser,ENST00000517693,;SPIDR,splice_region_variant,,ENST00000521214,;SPIDR,splice_region_variant,,ENST00000521550,;SPIDR,splice_region_variant,,ENST00000519141,;SPIDR,splice_region_variant,,ENST00000522321,;SPIDR,splice_region_variant,,ENST00000518692,;SPIDR,splice_region_variant,,ENST00000524141,;SPIDR,splice_region_variant,,ENST00000522117,;SPIDR,splice_region_variant,,ENST00000524126,;SPIDR,splice_region_variant,,ENST00000519362,;	C	ENST00000297423	Transcript	missense_variant,splice_region_variant	2070/3988	1686/2748	562/915	R/S	agG/agC		1		1	SPIDR	HGNC	HGNC:28971	protein_coding	YES	CCDS43737.1	ENSP00000297423	Q14159		UPI0000253B92	NM_001080394.3	deleterious(0)		12/20		Pfam_domain:PF14951,hmmpanther:PTHR34347,hmmpanther:PTHR34347:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	47700403	47700403	G	C	1	0	0	0	0	1	0	0	0	15404	1188	41	4		4	SPIDR	8	47700403	Missense_Mutation	SNP	G	C3L-01924_TP	10859860	47700403	97438233	286	8601											
SOX17	0	.	GRCh38	chr8	54459747	54459747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accccccgggccccggacagCcgtcgccccctccggaggca	5	2	12	22	5	0	0	0	0	0	0	2	2	1	2	9	4	1	1	9	4	0	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.997C>T	p.Pro333Ser	p.P333S	ENST00000297316	2/2	284	243	41	298	298	0	strelka-varscan-mutect	SOX17,missense_variant,p.Pro333Ser,ENST00000297316,NM_022454.3;	T	ENST00000297316	Transcript	missense_variant	1201/2342	997/1245	333/414	P/S	Ccg/Tcg		1		1	SOX17	HGNC	HGNC:18122	protein_coding	YES	CCDS6159.1	ENSP00000297316	Q9H6I2		UPI00001362B7	NM_022454.3	tolerated(0.13)		2/2		PROSITE_profiles:PS51516,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF216,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	54459747	54459747	C	T	1	0	0	0	0	1	0	0	0	15273	739	26	3		3	SOX17	8	54459747	Missense_Mutation	SNP	C	C3L-01924_TP	6759344	54459747	90678889	287	8602											
SULF1	0	.	GRCh38	chr8	69627805	69627805	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagataaaattaagaatttaAgagaagtgagaggacatctg	20	9	10	2	0	1	4	0	1	1	4	1	7	1	5	0	1	0	0	0	1	7	4	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.1981A>G	p.Arg661Gly	p.R661G	ENST00000260128	17/23	116	94	22	150	150	0	strelka-varscan-mutect	SULF1,missense_variant,p.Arg661Gly,ENST00000260128,NM_015170.2;SULF1,missense_variant,p.Arg661Gly,ENST00000458141,NM_001128204.1;SULF1,missense_variant,p.Arg661Gly,ENST00000402687,NM_001128205.1;SULF1,missense_variant,p.Arg661Gly,ENST00000419716,NM_001128206.1;SULF1,missense_variant,p.Arg445Gly,ENST00000616868,;SULF1,non_coding_transcript_exon_variant,,ENST00000521946,;SULF1,non_coding_transcript_exon_variant,,ENST00000524731,;SULF1,missense_variant,p.Arg2Gly,ENST00000531512,;	G	ENST00000260128	Transcript	missense_variant	2698/5710	1981/2616	661/871	R/G	Aga/Gga		1		1	SULF1	HGNC	HGNC:20391	protein_coding	YES	CCDS6204.1	ENSP00000260128	Q8IWU6	A0A024R809	UPI000003FD82	NM_015170.2	deleterious(0)		17/23		Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF036665,Pfam_domain:PF12548																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	29	69627805	69627805	A	G	1	0	0	0	0	1	0	0	0	15758	64	3	5		5	SULF1	8	69627805	Missense_Mutation	SNP	A	C3L-01924_TP	15168058	69627805	75510831	288	8603											
JPH1	0	.	GRCh38	chr8	74244643	74244643	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctttctttggcaactggTtttgtcacagatttggaggg	6	17	12	6	0	2	1	1	0	1	1	2	2	2	2	0	4	2	3	0	4	1	6	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1791A>T	p.Lys597Asn	p.K597N	ENST00000342232	4/6	206	177	29	234	234	0	strelka-varscan-mutect	JPH1,missense_variant,p.Lys597Asn,ENST00000342232,NM_020647.2;JPH1,non_coding_transcript_exon_variant,,ENST00000518195,;JPH1,3_prime_UTR_variant,,ENST00000519947,;	A	ENST00000342232	Transcript	missense_variant	1832/4378	1791/1986	597/661	K/N	aaA/aaT		1		-1	JPH1	HGNC	HGNC:14201	protein_coding	YES	CCDS6217.1	ENSP00000344488	Q9HDC5		UPI000012DAC0	NM_020647.2	deleterious(0.05)		4/6		Low_complexity_(Seg):seg,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF6,PIRSF_domain:PIRSF037387																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	74244643	74244643	T	A	1	0	0	0	0	1	0	0	0	7872	1722	60	4		4	JPH1	8	74244643	Missense_Mutation	SNP	T	C3L-01924_TP	4616838	74244643	70893993	289	8604											
HNF4G	0	.	GRCh38	chr8	75543939	75543939	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatgggtgcaagggtttcTtcagacgcagcattcgtaag	9	11	14	7	2	2	2	1	1	1	1	3	2	2	2	0	2	2	5	0	2	2	4	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.217T>G	p.Phe73Val	p.F73V	ENST00000396423	2/10	101	94	7	79	79	0	strelka-mutect	HNF4G,missense_variant,p.Phe73Val,ENST00000396423,NM_004133.4;HNF4G,missense_variant,p.Phe36Val,ENST00000354370,;HNF4G,intron_variant,,ENST00000396419,;	G	ENST00000396423	Transcript	missense_variant	341/4209	217/1338	73/445	F/V	Ttc/Gtc		1		1	HNF4G	HGNC	HGNC:5026	protein_coding	YES	CCDS6220.2	ENSP00000379701	Q14541	F1D8Q4	UPI0000D47E07	NM_004133.4	deleterious(0.02)		2/10		PROSITE_profiles:PS51030,hmmpanther:PTHR24083:SF42,hmmpanther:PTHR24083,PROSITE_patterns:PS00031,Pfam_domain:PF00105,Gene3D:3.30.50.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	75543939	75543939	T	G	1	0	0	0	0	1	0	0	0	7145	1609	56	5		5	HNF4G	8	75543939	Missense_Mutation	SNP	T	C3L-01924_TP	1299296	75543939	69594697	290	8605											
HNF4G	0	.	GRCh38	chr8	75558625	75558625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagaaatccagattgatGacaatgagtatgcttgttta	14	14	8	5	0	1	5	1	3	0	2	2	5	2	5	1	0	1	3	1	0	5	6	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.811G>T	p.Asp271Tyr	p.D271Y	ENST00000396423	7/10	259	235	24	188	188	0	strelka-varscan-mutect	HNF4G,missense_variant,p.Asp271Tyr,ENST00000396423,NM_004133.4;HNF4G,missense_variant,p.Asp234Tyr,ENST00000354370,;	T	ENST00000396423	Transcript	missense_variant	935/4209	811/1338	271/445	D/Y	Gac/Tac		1		1	HNF4G	HGNC	HGNC:5026	protein_coding	YES	CCDS6220.2	ENSP00000379701	Q14541	F1D8Q4	UPI0000D47E07	NM_004133.4	deleterious(0)		7/10		hmmpanther:PTHR24083:SF42,hmmpanther:PTHR24083,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR00398																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	75558625	75558625	G	T	1	0	0	0	0	1	0	0	0	7145	1290	45	2		2	HNF4G	8	75558625	Missense_Mutation	SNP	G	C3L-01924_TP	14686	75558625	69580011	291	8606											
ZFHX4	0	.	GRCh38	chr8	76854290	76854290	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagccaccaaaacaacccCaacttatcggaagacctccc	15	4	4	18	1	0	1	0	0	0	1	2	2	1	2	6	1	4	0	6	1	6	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.7369C>A	p.Gln2457Lys	p.Q2457K	ENST00000521891	10/11	411	348	63	309	308	1	strelka-varscan-mutect	ZFHX4,missense_variant,p.Gln2457Lys,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Gln2431Lys,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	A	ENST00000521891	Transcript	missense_variant	7817/14019	7369/10851	2457/3616	Q/K	Caa/Aaa		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	tolerated(0.19)		10/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	76854290	76854290	C	A	1	0	0	0	0	1	0	0	0	18213	595	21	2		2	ZFHX4	8	76854290	Missense_Mutation	SNP	C	C3L-01924_TP	1295665	76854290	68284346	292	8607											
TPD52	0	.	GRCh38	chr8	80038225	80038225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagcaggcttggttcccCctactttagacttaaaaaaa	13	10	6	12	0	0	1	0	0	0	1	1	1	1	1	3	2	2	3	3	2	6	6	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.635G>T	p.Gly212Val	p.G212V	ENST00000520527	8/8	121	89	32	121	120	1	strelka-varscan-mutect	TPD52,missense_variant,p.Gly203Val,ENST00000448733,NM_001287142.1;TPD52,missense_variant,p.Gly149Val,ENST00000379096,NM_001287144.1,NM_005079.3;TPD52,missense_variant,p.Gly172Val,ENST00000518937,NM_001025253.2;TPD52,missense_variant,p.Gly212Val,ENST00000520527,NM_001287140.1;TPD52,missense_variant,p.Gly198Val,ENST00000517427,NM_001287143.1;TPD52,missense_variant,p.Gly189Val,ENST00000379097,NM_001025252.2;TPD52,missense_variant,p.Gly25Val,ENST00000519303,;RP11-92K15.3,upstream_gene_variant,,ENST00000607017,;TPD52,non_coding_transcript_exon_variant,,ENST00000523395,;TPD52,non_coding_transcript_exon_variant,,ENST00000520877,;TPD52,3_prime_UTR_variant,,ENST00000517462,;TPD52,3_prime_UTR_variant,,ENST00000521354,;TPD52,3_prime_UTR_variant,,ENST00000521241,;TPD52,3_prime_UTR_variant,,ENST00000518517,;TPD52,non_coding_transcript_exon_variant,,ENST00000523193,;TPD52,non_coding_transcript_exon_variant,,ENST00000523319,;TPD52,non_coding_transcript_exon_variant,,ENST00000521618,;TPD52,non_coding_transcript_exon_variant,,ENST00000524194,;RP11-26J3.4,intron_variant,,ENST00000522938,;TPD52,downstream_gene_variant,,ENST00000517445,;	A	ENST00000520527	Transcript	missense_variant	998/2638	635/744	212/247	G/V	gGg/gTg		1		-1	TPD52	HGNC	HGNC:12005	protein_coding	YES	CCDS75759.1	ENSP00000429309	P55327		UPI0001BB3A09	NM_001287140.1	tolerated(0.5)		8/8		hmmpanther:PTHR19307,hmmpanther:PTHR19307:SF12,Pfam_domain:PF04201																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	80038225	80038225	C	A	1	0	0	0	0	1	0	0	0	16876	623	22	2		2	TPD52	8	80038225	Missense_Mutation	SNP	C	C3L-01924_TP	3183935	80038225	65100411	293	8608											
CA2	0	.	GRCh38	chr8	85477151	85477151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttcactaacttcgatcCtcgtggcctccttcctgaat	7	14	6	14	2	1	2	1	2	0	0	6	3	4	2	4	1	1	0	4	1	2	4			C3L-01924_TP	C3L-01924_NB	C	C																c.539C>A	p.Pro180His	p.P180H	ENST00000285379	6/7	462	432	30	353	351	2	strelka-varscan-mutect	CA2,missense_variant,p.Pro180His,ENST00000285379,NM_001293675.1,NM_000067.2;CA2,3_prime_UTR_variant,,ENST00000520127,;CA2,3_prime_UTR_variant,,ENST00000522742,;CA2,downstream_gene_variant,,ENST00000520996,;CA2,downstream_gene_variant,,ENST00000518231,;	A	ENST00000285379	Transcript	missense_variant	769/1717	539/783	180/260	P/H	cCt/cAt	COSM1755812	1		1	CA2	HGNC	HGNC:1373	protein_coding	YES	CCDS6239.1	ENSP00000285379	P00918	V9HW21	UPI0000110BA2	NM_001293675.1,NM_000067.2	deleterious(0)		6/7		PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF120,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057,Superfamily_domains:SSF51069											1						MODERATE	1	SNV	1		1	1										PASS		rs886063150	.												A	3	1	29	85477151	85477151	C	A	1	0	0	0	0	1	0	0	0	2202	681	24	2		2	CA2	8	85477151	Missense_Mutation	SNP	C	C3L-01924_TP	5438926	85477151	59661485	294	8609											
CA2	0	.	GRCh38	chr8	85477236	85477236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttctggaatgtgtgacctgGattgtgctcaaggaacccat	9	12	11	9	0	2	1	1	1	1	0	2	4	2	4	2	3	2	1	2	3	3	2			C3L-01924_TP	C3L-01924_NB	G	G																c.624G>T	p.Trp208Cys	p.W208C	ENST00000285379	6/7	496	446	50	329	328	1	strelka-varscan-mutect	CA2,missense_variant,p.Trp208Cys,ENST00000285379,NM_001293675.1,NM_000067.2;CA2,3_prime_UTR_variant,,ENST00000520127,;CA2,downstream_gene_variant,,ENST00000522742,;CA2,downstream_gene_variant,,ENST00000520996,;CA2,downstream_gene_variant,,ENST00000518231,;	T	ENST00000285379	Transcript	missense_variant	854/1717	624/783	208/260	W/C	tgG/tgT	COSM5252048	1		1	CA2	HGNC	HGNC:1373	protein_coding	YES	CCDS6239.1	ENSP00000285379	P00918	V9HW21	UPI0000110BA2	NM_001293675.1,NM_000067.2	deleterious(0)		6/7		PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF120,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057,Superfamily_domains:SSF51069											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	29	85477236	85477236	G	T	1	0	0	0	0	1	0	0	0	2202	1183	41	2		2	CA2	8	85477236	Missense_Mutation	SNP	G	C3L-01924_TP	85	85477236	59661400	295	8610											
SLC7A13	0	.	GRCh38	chr8	86217540	86217540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcattaataatatagacCataatgaacccgtgaaaaaa	20	10	4	7	1	1	3	1	2	0	1	1	3	1	3	2	0	1	0	2	0	10	6	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1109G>C	p.Trp370Ser	p.W370S	ENST00000297524	3/4	141	93	48	125	125	0	strelka-varscan-mutect	SLC7A13,missense_variant,p.Trp370Ser,ENST00000297524,NM_138817.2;SLC7A13,missense_variant,p.Trp361Ser,ENST00000419776,;SLC7A13,downstream_gene_variant,,ENST00000520624,;	G	ENST00000297524	Transcript	missense_variant	1213/1878	1109/1413	370/470	W/S	tGg/tCg		1		-1	SLC7A13	HGNC	HGNC:23092	protein_coding	YES	CCDS34917.1	ENSP00000297524	Q8TCU3		UPI000006DF39	NM_138817.2	tolerated(0.15)		3/4		Transmembrane_helices:TMhelix,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF238,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060																	MODERATE	1	SNV	1			1										PASS		rs1161580204	.												G	3	3	29	86217540	86217540	C	G	1	0	0	0	0	1	0	0	0	14978	595	21	4		4	SLC7A13	8	86217540	Missense_Mutation	SNP	C	C3L-01924_TP	740304	86217540	58921096	296	8611											
SLC7A13	0	.	GRCh38	chr8	86229683	86229683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagatatctggaagttcagCatcaaaagcattctgaaatc	16	10	8	7	0	4	2	2	1	2	1	5	4	4	3	0	1	2	3	0	1	5	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.595G>T	p.Ala199Ser	p.A199S	ENST00000297524	1/4	317	216	101	320	319	1	strelka-varscan-mutect	SLC7A13,missense_variant,p.Ala199Ser,ENST00000297524,NM_138817.2;SLC7A13,missense_variant,p.Ala199Ser,ENST00000419776,;SLC7A13,intron_variant,,ENST00000520624,;	A	ENST00000297524	Transcript	missense_variant	699/1878	595/1413	199/470	A/S	Gct/Tct		1		-1	SLC7A13	HGNC	HGNC:23092	protein_coding	YES	CCDS34917.1	ENSP00000297524	Q8TCU3		UPI000006DF39	NM_138817.2	tolerated(0.14)		1/4		hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF238,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	86229683	86229683	C	A	1	0	0	0	0	1	0	0	0	14978	710	25	2		2	SLC7A13	8	86229683	Missense_Mutation	SNP	C	C3L-01924_TP	12143	86229683	58908953	297	8612											
MMP16	0	.	GRCh38	chr8	88074659	88074659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataaactgcatcgatactagGaggcaagccccgccagaagt	14	6	10	11	2	0	1	0	0	0	1	1	3	0	2	3	2	4	2	3	2	6	3	rs774237231		C3L-01924_TP	C3L-01924_NB	G	G																c.1168C>A	p.Pro390Thr	p.P390T	ENST00000286614	7/10	223	133	90	226	226	0	strelka-varscan-mutect	MMP16,missense_variant,p.Pro390Thr,ENST00000286614,NM_005941.4;MMP16,non_coding_transcript_exon_variant,,ENST00000544227,;	T	ENST00000286614	Transcript	missense_variant	1450/11558	1168/1824	390/607	P/T	Cct/Act	rs774237231,COSM5599944	1		-1	MMP16	HGNC	HGNC:7162	protein_coding	YES	CCDS6246.1	ENSP00000286614	P51512		UPI000003DC73	NM_005941.4	tolerated(0.54)		7/10		PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF26,PROSITE_patterns:PS00024,Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,Pfam_domain:PF00045,SMART_domains:SM00120,Superfamily_domains:SSF50923											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs774237231	.												T	3	4	29	88074659	88074659	G	T	1	0	0	0	0	1	0	0	0	9618	1174	41	2		2	MMP16	8	88074659	Missense_Mutation	SNP	G	C3L-01924_TP	1844976	88074659	57063977	298	8613											
MMP16	0	.	GRCh38	chr8	88074735	88074735	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtttctcactcgccaaaaCcactggtcctgcaaaccaag	11	10	6	14	1	1	0	1	0	1	0	4	0	2	0	4	1	3	2	4	1	4	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1092G>C	p.Trp364Cys	p.W364C	ENST00000286614	7/10	154	134	20	142	142	0	strelka-varscan-mutect	MMP16,missense_variant,p.Trp364Cys,ENST00000286614,NM_005941.4;MMP16,non_coding_transcript_exon_variant,,ENST00000544227,;	G	ENST00000286614	Transcript	missense_variant	1374/11558	1092/1824	364/607	W/C	tgG/tgC		1		-1	MMP16	HGNC	HGNC:7162	protein_coding	YES	CCDS6246.1	ENSP00000286614	P51512		UPI000003DC73	NM_005941.4	deleterious(0)		7/10		PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF26,Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,Pfam_domain:PF00045,SMART_domains:SM00120,Superfamily_domains:SSF50923																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	88074735	88074735	C	G	1	0	0	0	0	1	0	0	0	9618	508	18	4		4	MMP16	8	88074735	Missense_Mutation	SNP	C	C3L-01924_TP	76	88074735	57063901	299	8614											
RUNX1T1	0	.	GRCh38	chr8	91986907	91986907	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtcaagatgtttccactCttctgcccattctctgtctg	6	16	7	12	0	5	1	1	0	4	1	7	1	6	1	2	1	1	1	2	1	1	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1234G>T	p.Glu412Ter	p.E412*	ENST00000436581	8/12	308	255	53	251	250	1	strelka-varscan-mutect	RUNX1T1,stop_gained,p.Glu353Ter,ENST00000613302,NM_001198630.1,NM_001198627.1;RUNX1T1,stop_gained,p.Glu353Ter,ENST00000617740,NM_001198629.1,NM_001198626.1;RUNX1T1,stop_gained,p.Glu353Ter,ENST00000523629,NM_175634.2;RUNX1T1,stop_gained,p.Glu353Ter,ENST00000614812,NM_001198631.1;RUNX1T1,stop_gained,p.Glu412Ter,ENST00000436581,NM_001198679.1;RUNX1T1,stop_gained,p.Glu326Ter,ENST00000613886,NM_001198632.1;RUNX1T1,stop_gained,p.Glu333Ter,ENST00000615601,NM_001198633.1;RUNX1T1,stop_gained,p.Glu353Ter,ENST00000265814,NM_001198628.1;RUNX1T1,stop_gained,p.Glu326Ter,ENST00000396218,NM_004349.3;RUNX1T1,stop_gained,p.Glu326Ter,ENST00000518844,NM_001198625.1;RUNX1T1,stop_gained,p.Glu316Ter,ENST00000422361,NM_175636.2;RUNX1T1,stop_gained,p.Glu316Ter,ENST00000360348,NM_175635.2;RUNX1T1,stop_gained,p.Glu364Ter,ENST00000520724,NM_001198634.1;RUNX1T1,stop_gained,p.Glu53Ter,ENST00000521751,;RUNX1T1,3_prime_UTR_variant,,ENST00000520978,;RUNX1T1,downstream_gene_variant,,ENST00000520047,;RUNX1T1,downstream_gene_variant,,ENST00000518361,;	A	ENST00000436581	Transcript	stop_gained	1421/7454	1234/1992	412/663	E/*	Gag/Tag		1		-1	RUNX1T1	HGNC	HGNC:1535	protein_coding	YES	CCDS75766.1	ENSP00000402257		A0A0A0MSU1	UPI0001E7B0BD	NM_001198679.1			8/12		hmmpanther:PTHR10379:SF5,hmmpanther:PTHR10379,Pfam_domain:PF08788																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	29	91986907	91986907	C	A	1	0	0	0	0	0	1	0	0	14008	922	32	2		2	RUNX1T1	8	91986907	Nonsense_Mutation	SNP	C	C3L-01924_TP	3912172	91986907	53151729	300	8615											
POP1	0	.	GRCh38	chr8	98130112	98130112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggttagaaactcacatctgGcacgccaagcggtttcatat	11	11	9	10	2	3	1	2	0	1	1	3	1	3	1	1	3	2	3	1	3	4	3	rs749388629		C3L-01924_TP	C3L-01924_NB	G	G																c.621G>C	p.Trp207Cys	p.W207C	ENST00000401707	5/16	477	318	159	394	394	0	strelka-varscan-mutect	POP1,missense_variant,p.Trp207Cys,ENST00000401707,NM_001145860.1,NM_001145861.1;POP1,missense_variant,p.Trp207Cys,ENST00000349693,NM_015029.2;POP1,downstream_gene_variant,,ENST00000522319,;	C	ENST00000401707	Transcript	missense_variant	702/4719	621/3075	207/1024	W/C	tgG/tgC	rs749388629	1		1	POP1	HGNC	HGNC:30129	protein_coding	YES	CCDS6277.1	ENSP00000385787	Q99575		UPI0000131F33	NM_001145860.1,NM_001145861.1	deleterious(0)		5/16		hmmpanther:PTHR22731,hmmpanther:PTHR22731:SF3,Pfam_domain:PF06978																	MODERATE	1	SNV	2			1										PASS		rs749388629	.												C	3	2	29	98130112	98130112	G	C	1	0	0	0	0	1	0	0	0	12365	1212	42	4		4	POP1	8	98130112	Missense_Mutation	SNP	G	C3L-01924_TP	6143205	98130112	47008524	301	8616											
KCNS2	0	.	GRCh38	chr8	98428369	98428369	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggccgcaaagtagagccCgagcaggagaagtgggacga	13	3	16	9	3	0	2	0	0	0	2	0	6	0	3	2	3	2	3	2	3	3	1	rs764750909		C3L-01924_TP	C3L-01924_NB	C	C																c.390C>A	p.=	p.P130P	ENST00000287042	2/2	510	415	95	396	396	0	strelka-varscan-mutect	KCNS2,synonymous_variant,p.=,ENST00000287042,NM_020697.2;KCNS2,synonymous_variant,p.=,ENST00000521839,;STK3,intron_variant,,ENST00000517832,;	A	ENST00000287042	Transcript	synonymous_variant	740/5219	390/1434	130/477	P	ccC/ccA	rs764750909	1		1	KCNS2	HGNC	HGNC:6301	protein_coding	YES	CCDS6279.1	ENSP00000287042	Q9ULS6		UPI0000001653	NM_020697.2			2/2		Gene3D:3.30.710.10,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF60																	LOW	1	SNV	1			1										PASS		rs764750909	.												A	2	1	29	98428369	98428369	C	A	1	0	0	0	0	0	0	0	1	8005	639	23	1		1	KCNS2	8	98428369	Silent	SNP	C	C3L-01924_TP	298257	98428369	46710267	302	8617											
RIMS2	0	.	GRCh38	chr8	103501006	103501006	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggaggagaggaaaatcatCctggccgtcatggataggca	13	6	15	7	1	2	1	2	0	0	1	3	6	3	4	2	6	0	1	2	6	3	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.120C>A	p.=	p.I40I	ENST00000504942	1/24	188	170	18	151	151	0	strelka-varscan-mutect	RIMS2,synonymous_variant,p.=,ENST00000504942,NM_001100117.2;RIMS2,synonymous_variant,p.=,ENST00000632716,;RP11-1C8.4,intron_variant,,ENST00000523422,;RP11-1C8.4,upstream_gene_variant,,ENST00000517376,;	A	ENST00000504942	Transcript	synonymous_variant	259/4228	120/4050	40/1349	I	atC/atA		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2			1/24		Gene3D:3.30.40.10,Pfam_domain:PF02318,PROSITE_profiles:PS50916,hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15,Superfamily_domains:SSF57903																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	29	103501006	103501006	C	A	1	0	0	0	0	0	0	0	1	13543	845	30	2		2	RIMS2	8	103501006	Silent	SNP	C	C3L-01924_TP	5072637	103501006	41637630	303	8618											
DCSTAMP	0	.	GRCh38	chr8	104348820	104348820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtctttctctcttgtGgcctgcgtgaaggcaggaat	5	16	11	9	1	4	1	0	1	4	0	5	2	4	2	1	3	1	1	1	3	2	4	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.268G>T	p.Gly90Cys	p.G90C	ENST00000297581	2/4	466	427	39	404	403	1	strelka-varscan-mutect	DCSTAMP,missense_variant,p.Gly90Cys,ENST00000297581,NM_030788.3;DCSTAMP,missense_variant,p.Gly90Cys,ENST00000622554,NM_001257317.1;DCSTAMP,missense_variant,p.Gly90Cys,ENST00000517991,;DCSTAMP,non_coding_transcript_exon_variant,,ENST00000518023,;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,upstream_gene_variant,,ENST00000518051,;DCSTAMP,downstream_gene_variant,,ENST00000517364,;DCSTAMP,downstream_gene_variant,,ENST00000519562,;	T	ENST00000297581	Transcript	missense_variant	317/1953	268/1413	90/470	G/C	Ggc/Tgc		1		1	DCSTAMP	HGNC	HGNC:18549	protein_coding	YES	CCDS6301.1	ENSP00000297581	Q9H295		UPI000003BCB5	NM_030788.3	deleterious(0)		2/4		hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	104348820	104348820	G	T	1	0	0	0	0	1	0	0	0	4106	1348	47	2		2	DCSTAMP	8	104348820	Missense_Mutation	SNP	G	C3L-01924_TP	847814	104348820	40789816	304	8619											
DPYS	0	.	GRCh38	chr8	104392960	104392960	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaaaatgttgaagttaaCagcctgatgatgagtttttg	12	14	10	5	1	0	4	0	4	0	0	1	5	0	4	1	0	2	3	1	0	4	4	rs776933209		C3L-01924_TP	C3L-01924_NB	C	C																c.1267G>T	p.Val423Phe	p.V423F	ENST00000351513	8/10	404	262	142	359	359	0	strelka-varscan-mutect	DPYS,missense_variant,p.Val423Phe,ENST00000351513,NM_001385.2;DPYS,upstream_gene_variant,,ENST00000533874,;DPYS,non_coding_transcript_exon_variant,,ENST00000521372,;DPYS,intron_variant,,ENST00000521601,;DPYS,non_coding_transcript_exon_variant,,ENST00000520483,;	A	ENST00000351513	Transcript	missense_variant	1400/2127	1267/1560	423/519	V/F	Gtt/Ttt	rs776933209	1		-1	DPYS	HGNC	HGNC:3013	protein_coding	YES	CCDS6302.1	ENSP00000276651	Q14117		UPI000012986F	NM_001385.2	deleterious(0.03)		8/10		hmmpanther:PTHR11647:SF50,hmmpanther:PTHR11647,TIGRFAM_domain:TIGR02033,Gene3D:2.30.40.10,Pfam_domain:PF01979,Superfamily_domains:SSF51338																	MODERATE	1	SNV	1			1										PASS		rs776933209	.												A	3	1	29	104392960	104392960	C	A	1	0	0	0	0	1	0	0	0	4561	478	17	2		2	DPYS	8	104392960	Missense_Mutation	SNP	C	C3L-01924_TP	44140	104392960	40745676	305	8620											
DPYS	0	.	GRCh38	chr8	104466903	104466903	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgacccccgcggatcaggagCcgcgagggcgccgccatagc	7	2	15	17	7	1	0	1	0	0	0	1	4	1	2	5	3	2	0	5	3	1	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.18G>T	p.=	p.R6R	ENST00000351513	1/10	133	122	11	90	90	0	strelka-varscan-mutect	DPYS,synonymous_variant,p.=,ENST00000351513,NM_001385.2;DPYS,synonymous_variant,p.=,ENST00000521573,;	A	ENST00000351513	Transcript	synonymous_variant	151/2127	18/1560	6/519	R	cgG/cgT		1		-1	DPYS	HGNC	HGNC:3013	protein_coding	YES	CCDS6302.1	ENSP00000276651	Q14117		UPI000012986F	NM_001385.2			1/10		hmmpanther:PTHR11647:SF50,hmmpanther:PTHR11647,Gene3D:2.30.40.10,Superfamily_domains:SSF51338																	LOW	1	SNV	1			1										PASS		rs1020926040	.												A	2	1	29	104466903	104466903	C	A	1	0	0	0	0	0	0	0	1	4561	726	26	2		2	DPYS	8	104466903	Silent	SNP	C	C3L-01924_TP	73943	104466903	40671733	306	8621											
CSMD3	0	.	GRCh38	chr8	112947849	112947849	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggatctgggcataaattGgaagctgttttaatacctcc	10	13	9	9	0	1	0	0	0	1	0	2	2	2	2	3	3	2	3	3	3	5	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1449C>A	p.=	p.S483S	ENST00000297405	9/71	381	331	50	325	324	1	strelka-varscan-mutect	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000455883,NM_052900.2;	T	ENST00000297405	Transcript	synonymous_variant	1694/13212	1449/11124	483/3707	S	tcC/tcA		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			9/71																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	112947849	112947849	G	T	1	0	0	0	0	0	0	0	1	3747	1335	47	2		2	CSMD3	8	112947849	Silent	SNP	G	C3L-01924_TP	8480946	112947849	32190787	307	8622											
TRPS1	0	.	GRCh38	chr8	115414235	115414235	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacacattttgttgaaagttCatcttgagtacttctatcaa	12	16	5	8	0	4	2	2	2	2	0	4	2	4	2	0	0	1	3	0	0	4	8			C3L-01924_TP	C3L-01924_NB	C	C																c.3673G>C	p.Glu1225Gln	p.E1225Q	ENST00000395715	7/7	567	523	44	489	489	0	strelka-varscan-mutect	TRPS1,missense_variant,p.Glu1225Gln,ENST00000395715,NM_014112.4,NM_001282903.2;TRPS1,missense_variant,p.Glu1212Gln,ENST00000220888,;TRPS1,missense_variant,p.Glu1216Gln,ENST00000520276,NM_001282902.2;TRPS1,missense_variant,p.Glu966Gln,ENST00000519076,;TRPS1,downstream_gene_variant,,ENST00000518018,;	G	ENST00000395715	Transcript	missense_variant	4251/9990	3673/3885	1225/1294	E/Q	Gaa/Caa	COSM5317923,COSM5317924	1		-1	TRPS1	HGNC	HGNC:12340	protein_coding	YES	CCDS6318.2	ENSP00000379065	Q9UHF7		UPI00002104B8	NM_014112.4,NM_001282903.2	deleterious_low_confidence(0.03)		7/7													1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	29	115414235	115414235	C	G	1	0	0	0	0	1	0	0	0	17099	835	29	4		4	TRPS1	8	115414235	Missense_Mutation	SNP	C	C3L-01924_TP	2466386	115414235	29724401	308	8623											
DEPTOR	0	.	GRCh38	chr8	119965231	119965231	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccctttttttcttcccaGgctgatgagccctgaaaaca	8	15	6	12	0	1	3	0	3	1	0	3	3	3	3	3	1	2	1	3	1	2	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.426-1G>T		p.X142_splice	ENST00000286234		154	146	8	128	128	0	varscan-mutect	DEPTOR,splice_acceptor_variant,,ENST00000286234,NM_022783.3;DEPTOR,splice_acceptor_variant,,ENST00000523492,NM_001283012.1;DEPTOR,upstream_gene_variant,,ENST00000518057,;	T	ENST00000286234	Transcript	splice_acceptor_variant	-/2569	426/1230	142/409				1		1	DEPTOR	HGNC	HGNC:22953	protein_coding	YES	CCDS6331.1	ENSP00000286234	Q8TB45		UPI000013DE38	NM_022783.3				3/8																		HIGH	1	SNV	1			1										PASS		rs1327297903	.												T	5	4	29	119965231	119965231	G	T	1	0	0	0	0	0	0	1	0	4250	1014	35	2		2	DEPTOR	8	119965231	Splice_Site	SNP	G	C3L-01924_TP	4550996	119965231	25173405	309	8624											
COL14A1	0	.	GRCh38	chr8	120270058	120270058	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaggcggccaaggctgacCtggtatttatggtggatgga	9	10	16	6	1	0	1	0	1	0	0	0	3	0	3	2	7	0	3	2	7	4	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.3097C>A	p.Leu1033Met	p.L1033M	ENST00000297848	26/48	220	175	45	157	156	1	strelka-varscan-mutect	COL14A1,missense_variant,p.Leu1033Met,ENST00000297848,NM_021110.2;COL14A1,missense_variant,p.Leu1033Met,ENST00000309791,;COL14A1,5_prime_UTR_variant,,ENST00000247781,;COL14A1,downstream_gene_variant,,ENST00000434620,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;	A	ENST00000297848	Transcript	missense_variant	3367/6466	3097/5391	1033/1796	L/M	Ctg/Atg		1		1	COL14A1	HGNC	HGNC:2191	protein_coding	YES	CCDS34938.1	ENSP00000297848	Q05707		UPI000046D377	NM_021110.2	deleterious(0.01)		26/48		PROSITE_profiles:PS50234,hmmpanther:PTHR11132:SF53,hmmpanther:PTHR11132,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300,Prints_domain:PR00453																	MODERATE	1	SNV	5			1										PASS		rs1273671029	.												A	3	1	29	120270058	120270058	C	A	1	0	0	0	0	1	0	0	0	3459	680	24	2		2	COL14A1	8	120270058	Missense_Mutation	SNP	C	C3L-01924_TP	304827	120270058	24868578	310	8625											
COL22A1	0	.	GRCh38	chr8	138663714	138663714	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatactgtaccggggatccTttgtctcctggtggtccgga	5	12	13	11	2	1	0	0	0	1	0	4	2	3	2	4	5	2	2	4	5	2	3	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.3177A>G	p.=	p.K1059K	ENST00000303045	42/65	223	206	17	137	137	0	strelka-varscan-mutect	COL22A1,synonymous_variant,p.=,ENST00000303045,NM_152888.2;COL22A1,synonymous_variant,p.=,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;	C	ENST00000303045	Transcript	synonymous_variant	3624/6346	3177/4881	1059/1626	K	aaA/aaG		1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2			42/65		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,Pfam_domain:PF01391																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	29	138663714	138663714	T	C	1	0	0	0	0	0	0	0	1	3469	1606	56	5		5	COL22A1	8	138663714	Silent	SNP	T	C3L-01924_TP	18393656	138663714	6474922	311	8626											
EEF1D	0	.	GRCh38	chr8	143580568	143580568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggcttcttggccttcttctCcgcgtactgccgtagccgct	3	13	10	15	4	3	0	0	0	3	0	4	0	3	0	4	2	3	4	4	2	2	6	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1648G>C	p.Glu550Gln	p.E550Q	ENST00000423316	7/9	241	193	48	168	168	0	strelka-varscan-mutect	EEF1D,missense_variant,p.Glu600Gln,ENST00000532741,;EEF1D,missense_variant,p.Glu550Gln,ENST00000423316,NM_001130053.2;EEF1D,missense_variant,p.Glu550Gln,ENST00000618139,;EEF1D,missense_variant,p.Glu550Gln,ENST00000442189,NM_032378.4;EEF1D,missense_variant,p.Glu184Gln,ENST00000317198,NM_001130057.2;EEF1D,missense_variant,p.Glu184Gln,ENST00000419152,NM_001130055.2;EEF1D,missense_variant,p.Glu184Gln,ENST00000529272,;EEF1D,missense_variant,p.Glu184Gln,ENST00000395119,NM_001289950.1,NM_001960.4;EEF1D,missense_variant,p.Glu160Gln,ENST00000524624,;EEF1D,missense_variant,p.Glu184Gln,ENST00000534380,;EEF1D,missense_variant,p.Glu165Gln,ENST00000526838,NM_001195203.1;EEF1D,missense_variant,p.Glu160Gln,ENST00000528610,NM_001130056.2;EEF1D,missense_variant,p.Glu184Gln,ENST00000530191,;EEF1D,missense_variant,p.Glu184Gln,ENST00000533204,;EEF1D,missense_variant,p.Glu141Gln,ENST00000531621,;EEF1D,missense_variant,p.Glu184Gln,ENST00000531218,;EEF1D,missense_variant,p.Glu160Gln,ENST00000534377,;EEF1D,missense_variant,p.Glu59Gln,ENST00000530109,;EEF1D,missense_variant,p.Glu24Gln,ENST00000529576,;EEF1D,3_prime_UTR_variant,,ENST00000530616,;EEF1D,5_prime_UTR_variant,,ENST00000528382,;EEF1D,intron_variant,,ENST00000532400,;NAPRT,upstream_gene_variant,,ENST00000449291,NM_145201.5;NAPRT,upstream_gene_variant,,ENST00000435154,;NAPRT,upstream_gene_variant,,ENST00000426292,NM_001286829.1;EEF1D,downstream_gene_variant,,ENST00000530445,;EEF1D,downstream_gene_variant,,ENST00000533494,;EEF1D,downstream_gene_variant,,ENST00000533749,;EEF1D,downstream_gene_variant,,ENST00000529516,;RP11-661A12.7,non_coding_transcript_exon_variant,,ENST00000529247,;RP11-661A12.9,downstream_gene_variant,,ENST00000531730,;RP11-661A12.8,non_coding_transcript_exon_variant,,ENST00000623257,;EEF1D,3_prime_UTR_variant,,ENST00000524397,;EEF1D,3_prime_UTR_variant,,ENST00000529007,;EEF1D,3_prime_UTR_variant,,ENST00000533833,;EEF1D,non_coding_transcript_exon_variant,,ENST00000527741,;EEF1D,non_coding_transcript_exon_variant,,ENST00000526786,;EEF1D,non_coding_transcript_exon_variant,,ENST00000530848,;NAPRT,upstream_gene_variant,,ENST00000340490,;NAPRT,upstream_gene_variant,,ENST00000464332,;NAPRT,upstream_gene_variant,,ENST00000480946,;NAPRT,upstream_gene_variant,,ENST00000525583,;NAPRT,upstream_gene_variant,,ENST00000488096,;NAPRT,upstream_gene_variant,,ENST00000532645,;EEF1D,downstream_gene_variant,,ENST00000534232,;NAPRT,upstream_gene_variant,,ENST00000462059,;NAPRT,upstream_gene_variant,,ENST00000460623,;NAPRT,upstream_gene_variant,,ENST00000491904,;	G	ENST00000423316	Transcript	missense_variant	1987/2378	1648/1944	550/647	E/Q	Gag/Cag		1		-1	EEF1D	HGNC	HGNC:3211	protein_coding	YES	CCDS6404.1	ENSP00000410059	P29692		UPI000013C7A6	NM_001130053.2	deleterious(0.04)		7/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11595:SF26,hmmpanther:PTHR11595,Pfam_domain:PF10587,SMART_domains:SM01182																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	29	143580568	143580568	C	G	1	0	0	0	0	1	0	0	0	4756	864	30	4		4	EEF1D	8	143580568	Missense_Mutation	SNP	C	C3L-01924_TP	4916854	143580568	1558068	312	8627											
EPPK1	0	.	GRCh38	chr8	143859709	143859709	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaagcccttggtgtcgtcGctggggtgggccaggacacg	7	7	17	10	3	0	1	0	0	0	1	2	2	0	2	2	5	1	1	2	5	2	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.13545C>G	p.Ser4515Arg	p.S4515R	ENST00000615648	2/2	118	110	8	129	129	0	varscan-mutect	EPPK1,missense_variant,p.Ser4515Arg,ENST00000615648,NM_031308.3;EPPK1,missense_variant,p.Ser4490Arg,ENST00000568225,;	C	ENST00000615648	Transcript	missense_variant	13617/16002	13545/15267	4515/5088	S/R	agC/agG		1		-1	EPPK1	HGNC	HGNC:15577	protein_coding	YES	CCDS75800.1	ENSP00000484472		A0A087X1U6	UPI0002065B93	NM_031308.3	deleterious(0.02)		2/2		Gene3D:3.90.1290.10,SMART_domains:SM00250,Superfamily_domains:SSF75399																	MODERATE	1	SNV	5			1										PASS		rs1321322855	.												C	3	2	29	143859709	143859709	G	C	1	0	0	0	0	1	0	0	0	5038	1078	38	4		4	EPPK1	8	143859709	Missense_Mutation	SNP	G	C3L-01924_TP	279141	143859709	1278927	313	8628											
MROH1	0	.	GRCh38	chr8	144248898	144248898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttattgccaagcgcctccccCcagaccagctcatcagcctc	8	8	6	19	1	2	1	2	0	0	1	4	1	3	1	7	0	4	1	7	0	2	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.3142C>T	p.Pro1048Ser	p.P1048S	ENST00000528919	31/43	695	440	255	492	492	0	strelka-varscan-mutect	MROH1,missense_variant,p.Pro1048Ser,ENST00000528919,NM_032450.2;MROH1,missense_variant,p.Pro1048Ser,ENST00000326134,;MROH1,missense_variant,p.Pro1039Ser,ENST00000534366,NM_001288814.1;MROH1,missense_variant,p.Pro10Ser,ENST00000544576,;MROH1,non_coding_transcript_exon_variant,,ENST00000527552,;MROH1,non_coding_transcript_exon_variant,,ENST00000532255,;	T	ENST00000528919	Transcript	missense_variant	3263/5234	3142/4926	1048/1641	P/S	Cca/Tca		1		1	MROH1	HGNC	HGNC:26958	protein_coding	YES	CCDS47938.1	ENSP00000435565	Q8NDA8		UPI0001AE6FA6	NM_032450.2	tolerated(0.19)		31/43		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF13,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs1485751985	.												T	3	4	29	144248898	144248898	C	T	1	0	0	0	0	1	0	0	0	9743	623	22	3		3	MROH1	8	144248898	Missense_Mutation	SNP	C	C3L-01924_TP	389189	144248898	889738	314	8629											
KIAA2026	0	.	GRCh38	chr9	5919900	5919911	+	In_Frame_Del	DEL	ACTTGGCAGTGG	ACTTGGCAGTGG	-																															aaatgaaacactgaagtgctActtggcagtggaggattact																								novel		C3L-01924_TP	C3L-01924_NB	ACTTGGCAGTGG	ACTTGGCAGTGG																c.6085_6096delCCACTGCCAAGT	p.Pro2029_Ser2032del	p.P2029_S2032del	ENST00000399933	8/8	156	144	12	267	267	0	sindel-varindel-pindel	KIAA2026,inframe_deletion,p.Pro2029_Ser2032del,ENST00000399933,NM_001017969.2;KIAA2026,inframe_deletion,p.Pro1999_Ser2002del,ENST00000381461,;KIAA2026,3_prime_UTR_variant,,ENST00000540714,;KIAA2026,intron_variant,,ENST00000436015,;	-	ENST00000399933	Transcript	inframe_deletion	6085-6096/6988	6085-6096/6312	2029-2032/2103	PLPS/-	CCACTGCCAAGT/-		1		-1	KIAA2026	HGNC	HGNC:23378	protein_coding	YES		ENSP00000382815	Q5HYC2		UPI0001533DB0	NM_001017969.2			8/8		hmmpanther:PTHR31095,hmmpanther:PTHR31095:SF3																	MODERATE	1	deletion	5			1										PASS		.	.												-	7	5	29	5919900	5919900	ACTTGGCAGTGG	-	1	0	1	0	1	0	0	0	0	8134	388	14	0		0	KIAA2026	9	5919900	In_Frame_Del	DEL	ACTTGGCAGTGG	C3L-01924_TP		5919900	132474817	315	8630											
GLDC	0	.	GRCh38	chr9	6605191	6605191	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccttcccctccgtgtcTgggtactggaacaacactcc	7	10	7	17	1	1	0	0	0	1	0	5	1	5	1	6	2	3	1	6	2	3	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.801A>G	p.=	p.P267P	ENST00000321612	6/25	397	351	46	469	468	1	strelka-varscan-mutect	GLDC,synonymous_variant,p.=,ENST00000321612,NM_000170.2;GLDC,non_coding_transcript_exon_variant,,ENST00000463305,;	C	ENST00000321612	Transcript	synonymous_variant	952/3767	801/3063	267/1020	P	ccA/ccG		1		-1	GLDC	HGNC	HGNC:4313	protein_coding	YES	CCDS34987.1	ENSP00000370737	P23378		UPI0000684276	NM_000170.2			6/25		HAMAP:MF_00711,hmmpanther:PTHR11773,hmmpanther:PTHR11773:SF1,Gene3D:3.40.640.10,Pfam_domain:PF02347,TIGRFAM_domain:TIGR00461,Superfamily_domains:SSF53383																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	29	6605191	6605191	T	C	1	0	0	0	0	0	0	0	1	6311	1567	55	5		5	GLDC	9	6605191	Silent	SNP	T	C3L-01924_TP	685291	6605191	131789526	316	8631											
EQTN	0	.	GRCh38	chr9	27292400	27292400	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtgtagtaatttaaataCtttgaatatttttatgagag	15	17	7	2	0	0	2	0	2	0	1	0	3	0	2	0	0	1	2	0	0	8	10	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.376+1G>A		p.X126_splice	ENST00000380032		94	67	27	102	102	0	strelka-varscan-mutect	EQTN,splice_donor_variant,,ENST00000380032,NM_020641.2;EQTN,missense_variant,p.Ser126Asn,ENST00000380031,;EQTN,intron_variant,,ENST00000537675,NM_001161585.1;EQTN,downstream_gene_variant,,ENST00000484994,;	T	ENST00000380032	Transcript	splice_donor_variant	-/1033	376/885	126/294				1		-1	EQTN	HGNC	HGNC:1359	protein_coding	YES	CCDS35001.1	ENSP00000369371	Q9NQ60		UPI000013CA7C	NM_020641.2				4/7																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	29	27292400	27292400	C	T	1	0	0	0	0	0	0	1	0	5050	579	20	3		3	EQTN	9	27292400	Splice_Site	SNP	C	C3L-01924_TP	20687209	27292400	111102317	317	8632											
TAF1L	0	.	GRCh38	chr9	32630393	32630394	+	In_Frame_Ins	INS	-	-	TCC																															ctggaggcttaggtttcccaINStcctcctcctcatcatcata																								novel		C3L-01924_TP	C3L-01924_NB	-	-																c.5184_5186dupGGA	p.Glu1728dup	p.E1728dup	ENST00000242310	1/1	270	232	38	421	421	0	sindel-varindel	TAF1L,inframe_insertion,p.Glu1728dup,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;	TCC	ENST00000242310	Transcript	inframe_insertion	5276-5277/6216	5186-5187/5481	1729/1826	D/ED	gat/gaGGAt		1		-1	TAF1L	HGNC	HGNC:18056	protein_coding	YES	CCDS35003.1	ENSP00000418379	Q8IZX4		UPI000007408A	NM_153809.2			1/1		PIRSF_domain:PIRSF003047,Low_complexity_(Seg):seg																	MODERATE		insertion				1										PASS		.	.												TCC	7	5	29	32630393	32630393	-	TCC	1	0	1	1	0	0	0	0	0	15919	214	8	0		0	TAF1L	9	32630393	In_Frame_Ins	INS	-	C3L-01924_TP	5337993	32630393	105764324	318	8633											
TAF1L	0	.	GRCh38	chr9	32631220	32631220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgggtagaggcatttacGcacattttcacggagtgttt	10	13	12	6	2	1	2	1	0	0	2	1	3	1	3	0	3	1	4	0	3	2	6	rs545988745		C3L-01924_TP	C3L-01924_NB	G	G																c.4360C>A	p.Arg1454Ser	p.R1454S	ENST00000242310	1/1	382	336	46	516	516	0	strelka-varscan-mutect	TAF1L,missense_variant,p.Arg1454Ser,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;	T	ENST00000242310	Transcript	missense_variant	4450/6216	4360/5481	1454/1826	R/S	Cgt/Agt	rs545988745,COSM1267362	1		-1	TAF1L	HGNC	HGNC:18056	protein_coding	YES	CCDS35003.1	ENSP00000418379	Q8IZX4		UPI000007408A	NM_153809.2	tolerated(0.12)		1/1		Gene3D:1.20.920.10,Pfam_domain:PF00439,PIRSF_domain:PIRSF003047,PROSITE_patterns:PS00633,PROSITE_profiles:PS50014,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,SMART_domains:SM00297,Superfamily_domains:SSF47370											0,1						MODERATE		SNV			0,1	1										PASS		rs545988745	.												T	3	4	29	32631220	32631220	G	T	1	0	0	0	0	1	0	0	0	15919	1087	38	1		1	TAF1L	9	32631220	Missense_Mutation	SNP	G	C3L-01924_TP	827	32631220	105763497	319	8634											
CNTNAP3B	0	.	GRCh38	chr9	41938397	41938397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaccagctcagtggggttCcatctgaaagacaagtataa	13	8	9	11	0	2	2	1	1	1	1	3	2	3	2	3	2	1	3	3	2	4	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2084G>T	p.Gly695Val	p.G695V	ENST00000377561	14/24	105	94	11	135	134	1	varscan-mutect	CNTNAP3B,missense_variant,p.Gly694Val,ENST00000612828,;CNTNAP3B,missense_variant,p.Gly695Val,ENST00000377561,NM_001201380.2;CNTNAP3B,missense_variant,p.Gly694Val,ENST00000341990,;CNTNAP3B,missense_variant,p.Gly601Val,ENST00000617422,;CNTNAP3B,intron_variant,,ENST00000489789,;CNTNAP3B,missense_variant,p.Gly601Val,ENST00000619138,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000618777,;CNTNAP3B,intron_variant,,ENST00000479351,;	A	ENST00000377561	Transcript	missense_variant	2477/5379	2084/3867	695/1288	G/V	gGa/gTa		1		-1	CNTNAP3B	HGNC	HGNC:32035	protein_coding	YES	CCDS75836.1	ENSP00000478671		A0A087WUH3	UPI00043788D3	NM_001201380.2	deleterious(0)		14/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	41938397	41938397	C	A	1	0	0	0	0	1	0	0	0	3430	869	30	2		2	CNTNAP3B	9	41938397	Missense_Mutation	SNP	C	C3L-01924_TP	9307177	41938397	96456320	320	8635											
GDA	0	.	GRCh38	chr9	72223127	72223127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattatctccagtattctaGagtgaagcccatagtgacac	13	12	7	9	0	2	3	0	2	2	1	3	3	2	3	2	0	1	1	2	0	6	6	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.614G>T	p.Arg205Ile	p.R205I	ENST00000238018	7/16	123	105	18	142	142	0	strelka-varscan-mutect	GDA,missense_variant,p.Arg131Ile,ENST00000545168,NM_001242507.2,NM_001242506.2;GDA,missense_variant,p.Arg205Ile,ENST00000358399,NM_004293.4;GDA,missense_variant,p.Arg205Ile,ENST00000238018,NM_001242505.2;GDA,missense_variant,p.Arg71Ile,ENST00000414671,;GDA,intron_variant,,ENST00000376986,;GDA,upstream_gene_variant,,ENST00000436438,;GDA,non_coding_transcript_exon_variant,,ENST00000477618,;GDA,missense_variant,p.Arg205Ile,ENST00000475764,;GDA,upstream_gene_variant,,ENST00000489618,;	T	ENST00000238018	Transcript	missense_variant	823/2074	614/1416	205/471	R/I	aGa/aTa		1		1	GDA	HGNC	HGNC:4212	protein_coding	YES	CCDS56576.1	ENSP00000238018	Q9Y2T3		UPI000015828B	NM_001242505.2	tolerated(0.06)		7/16		Gene3D:3.20.20.140,Pfam_domain:PF01979,hmmpanther:PTHR11271,hmmpanther:PTHR11271:SF6,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR02967																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	72223127	72223127	G	T	1	0	0	0	0	1	0	0	0	6178	942	33	2		2	GDA	9	72223127	Missense_Mutation	SNP	G	C3L-01924_TP	30284730	72223127	66171590	321	8636											
ZFAND5	0	.	GRCh38	chr9	72356089	72356089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaacaaatttccacatCggcagtcaaaccctgtacaa	17	7	4	13	1	1	0	1	0	0	0	3	0	2	0	2	1	3	2	2	1	6	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.506G>T	p.Arg169Leu	p.R169L	ENST00000237937	6/6	135	106	29	183	183	0	strelka-varscan-mutect	ZFAND5,missense_variant,p.Arg169Leu,ENST00000237937,NM_001278245.1,NM_001278244.1,NM_001278243.1;ZFAND5,missense_variant,p.Arg169Leu,ENST00000376962,NM_001102420.2;ZFAND5,missense_variant,p.Arg169Leu,ENST00000376960,NM_006007.3,NM_001102421.2;ZFAND5,missense_variant,p.Arg169Leu,ENST00000343431,;ZFAND5,downstream_gene_variant,,ENST00000376956,;ZFAND5,non_coding_transcript_exon_variant,,ENST00000488164,;ZFAND5,non_coding_transcript_exon_variant,,ENST00000471197,;ZFAND5,downstream_gene_variant,,ENST00000487330,;	A	ENST00000237937	Transcript	missense_variant	646/5310	506/642	169/213	R/L	cGa/cTa		1		-1	ZFAND5	HGNC	HGNC:13008	protein_coding	YES	CCDS6642.1	ENSP00000237937	O76080	A0A024R219	UPI000013C322	NM_001278245.1,NM_001278244.1,NM_001278243.1	deleterious(0.01)		6/6		Gene3D:4.10.1110.10,Pfam_domain:PF01428,PROSITE_profiles:PS51039,hmmpanther:PTHR10634,hmmpanther:PTHR10634:SF26,SMART_domains:SM00154,Superfamily_domains:SSF118310																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	72356089	72356089	C	A	1	0	0	0	0	1	0	0	0	18207	884	31	1		1	ZFAND5	9	72356089	Missense_Mutation	SNP	C	C3L-01924_TP	132962	72356089	66038628	322	8637											
RMI1	0	.	GRCh38	chr9	84002150	84002150	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactaatgaagacaaatcAtttggttgtccatctgttag	13	14	8	6	0	2	3	1	2	1	1	3	3	3	3	1	1	0	2	1	1	4	4	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.1164A>G	p.=	p.S388S	ENST00000325875	3/3	234	202	32	296	295	1	strelka-varscan-mutect	RMI1,synonymous_variant,p.=,ENST00000325875,NM_024945.2;RMI1,synonymous_variant,p.=,ENST00000445877,;	G	ENST00000325875	Transcript	synonymous_variant	1496/3420	1164/1878	388/625	S	tcA/tcG		1		1	RMI1	HGNC	HGNC:25764	protein_coding	YES	CCDS6669.1	ENSP00000317039	Q9H9A7		UPI000014178F	NM_024945.2			3/3		hmmpanther:PTHR14790,hmmpanther:PTHR14790:SF15																	LOW	1	SNV	2			1										PASS		.	.												G	2	3	29	84002150	84002150	A	G	1	0	0	0	0	0	0	0	1	13573	204	8	5		5	RMI1	9	84002150	Silent	SNP	A	C3L-01924_TP	11646061	84002150	54392567	323	8638											
COL15A1	0	.	GRCh38	chr9	99049755	99049755	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagctgtgattaacatcaaAggagtaagttggcacgcagt	13	9	13	6	1	1	1	1	1	0	0	1	3	1	3	0	3	2	5	0	3	3	3	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.2859A>T	p.Lys953Asn	p.K953N	ENST00000375001	29/42	203	179	24	257	257	0	strelka-varscan-mutect	COL15A1,missense_variant,p.Lys953Asn,ENST00000375001,NM_001855.4;COL15A1,missense_variant,p.Lys939Asn,ENST00000610452,;	T	ENST00000375001	Transcript	missense_variant	3282/5496	2859/4167	953/1388	K/N	aaA/aaT		1		1	COL15A1	HGNC	HGNC:2192	protein_coding	YES	CCDS35081.1	ENSP00000364140	P39059		UPI0000211506	NM_001855.4	tolerated(0.17)		29/42		Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	99049755	99049755	A	T	1	0	0	0	0	1	0	0	0	3460	86	3	4		4	COL15A1	9	99049755	Missense_Mutation	SNP	A	C3L-01924_TP	15047605	99049755	39344962	324	8639											
RGS3	0	.	GRCh38	chr9	113462193	113462193	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcacgcatgccaaagtccAgggtgcaggtaagtccatct	11	8	11	11	1	2	0	1	0	1	0	4	1	4	0	3	2	2	3	3	2	2	1	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.407A>T	p.Gln136Leu	p.Q136L	ENST00000374140	4/26	107	91	16	138	138	0	strelka-varscan-mutect	RGS3,missense_variant,p.Gln136Leu,ENST00000374140,NM_144488.5;RGS3,missense_variant,p.Gln136Leu,ENST00000350696,NM_001282923.1;RGS3,upstream_gene_variant,,ENST00000317613,NM_017790.4;RGS3,upstream_gene_variant,,ENST00000478599,;	T	ENST00000374140	Transcript	missense_variant	616/4591	407/3597	136/1198	Q/L	cAg/cTg		1		1	RGS3	HGNC	HGNC:9999	protein_coding	YES	CCDS43869.1	ENSP00000363255	P49796		UPI00001C0F58	NM_144488.5	tolerated(0.18)		4/26		Gene3D:2.60.40.150,Superfamily_domains:SSF49562																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	29	113462193	113462193	A	T	1	0	0	0	0	1	0	0	0	13477	188	7	4		4	RGS3	9	113462193	Missense_Mutation	SNP	A	C3L-01924_TP	14412438	113462193	24932524	325	8640											
AMBP	0	.	GRCh38	chr9	114074089	114074089	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggctgaatttcttggtcAggaaaatggcatactcatca	11	11	11	8	1	4	1	3	1	1	0	4	2	4	2	0	5	1	2	0	5	4	3	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.401T>A	p.Leu134Gln	p.L134Q	ENST00000265132	4/10	276	241	35	267	267	0	strelka-varscan-mutect	AMBP,missense_variant,p.Leu134Gln,ENST00000265132,NM_001633.3;AMBP,missense_variant,p.Leu25Gln,ENST00000466610,;AMBP,missense_variant,p.Leu134Gln,ENST00000603230,;AMBP,non_coding_transcript_exon_variant,,ENST00000540645,;	T	ENST00000265132	Transcript	missense_variant	664/1434	401/1059	134/352	L/Q	cTg/cAg		1		-1	AMBP	HGNC	HGNC:453	protein_coding	YES	CCDS6800.1	ENSP00000265132	P02760		UPI000000D9AF	NM_001633.3	deleterious(0.02)		4/10		hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF18,Gene3D:2.40.128.20,Pfam_domain:PF00061,Superfamily_domains:SSF50814,Prints_domain:PR00179																	MODERATE	1	SNV	1			1										PASS		rs1286445690	.												T	3	4	29	114074089	114074089	A	T	1	0	0	0	0	1	0	0	0	660	188	7	4		4	AMBP	9	114074089	Missense_Mutation	SNP	A	C3L-01924_TP	611896	114074089	24320628	326	8641											
PDCL	0	.	GRCh38	chr9	122820102	122820102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcaatctatttccaggtCgctatcctcactgtgacacg	9	13	7	12	2	3	1	2	1	1	0	6	1	5	1	2	1	0	2	2	1	3	4	rs747053060		C3L-01924_TP	C3L-01924_NB	C	C																c.889G>T	p.Asp297Tyr	p.D297Y	ENST00000259467	4/4	73	65	8	77	77	0	strelka-mutect	PDCL,missense_variant,p.Asp297Tyr,ENST00000259467,NM_005388.4;PDCL,intron_variant,,ENST00000436632,;PDCL,downstream_gene_variant,,ENST00000394285,;	A	ENST00000259467	Transcript	missense_variant	1055/2813	889/906	297/301	D/Y	Gac/Tac	rs747053060	1		-1	PDCL	HGNC	HGNC:8770	protein_coding	YES	CCDS6845.1	ENSP00000259467	Q13371		UPI0000131988	NM_005388.4	deleterious(0)		4/4		Pfam_domain:PF02114,hmmpanther:PTHR21148,hmmpanther:PTHR21148:SF21																	MODERATE	1	SNV	1			1										PASS		rs747053060	.												A	3	1	29	122820102	122820102	C	A	1	0	0	0	0	1	0	0	0	11714	884	31	1		1	PDCL	9	122820102	Missense_Mutation	SNP	C	C3L-01924_TP	8746013	122820102	15574615	327	8642											
RC3H2	0	.	GRCh38	chr9	122865376	122865376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacagaatctgcagagggcCcagcagcattctgaccatta	12	9	9	11	0	2	3	0	1	2	2	2	3	2	3	2	1	4	3	2	1	3	3	rs764672649		C3L-01924_TP	C3L-01924_NB	C	C																c.1607G>T	p.Gly536Val	p.G536V	ENST00000373670	9/20	107	87	20	154	152	2	strelka-varscan-mutect	RC3H2,missense_variant,p.Gly536Val,ENST00000373670,;RC3H2,missense_variant,p.Gly536Val,ENST00000357244,NM_001100588.1;RC3H2,missense_variant,p.Gly536Val,ENST00000423239,NM_018835.2;RC3H2,3_prime_UTR_variant,,ENST00000498479,;	A	ENST00000373670	Transcript	missense_variant	2208/9248	1607/3576	536/1191	G/V	gGg/gTg	rs764672649	1		-1	RC3H2	HGNC	HGNC:21461	protein_coding	YES	CCDS43874.1	ENSP00000362774	Q9HBD1	A0A024R899	UPI0000048D91		deleterious(0.01)		9/20		hmmpanther:PTHR13139,hmmpanther:PTHR13139:SF2																	MODERATE	1	SNV	5			1										PASS		rs764672649	.												A	3	1	29	122865376	122865376	C	A	1	0	0	0	0	1	0	0	0	13336	623	22	2		2	RC3H2	9	122865376	Missense_Mutation	SNP	C	C3L-01924_TP	45274	122865376	15529341	328	8643											
CRB2	0	.	GRCh38	chr9	123373200	123373200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggcacaacgcgtcgtcagGgcgcttgctcggcggcctgt	4	7	16	14	7	1	0	1	0	0	0	3	0	1	0	1	4	2	3	1	4	1	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2669G>T	p.Gly890Val	p.G890V	ENST00000373631	10/13	167	141	26	176	175	1	strelka-varscan-mutect	CRB2,missense_variant,p.Gly890Val,ENST00000373631,NM_173689.6;CRB2,missense_variant,p.Gly890Val,ENST00000359999,;CRB2,missense_variant,p.Gly558Val,ENST00000460253,;	T	ENST00000373631	Transcript	missense_variant	2670/5550	2669/3858	890/1285	G/V	gGg/gTg		1		1	CRB2	HGNC	HGNC:18688	protein_coding	YES	CCDS6852.2	ENSP00000362734	Q5IJ48		UPI000022D9DE	NM_173689.6	tolerated(0.21)		10/13		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF1,Low_complexity_(Seg):seg,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	123373200	123373200	G	T	1	0	0	0	0	1	0	0	0	3649	1232	43	2		2	CRB2	9	123373200	Missense_Mutation	SNP	G	C3L-01924_TP	507824	123373200	15021517	329	8644											
PKN3	0	.	GRCh38	chr9	128713076	128713076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgcaggtccgcctcctggGctgtgaacagttgctgacag	7	9	13	12	1	0	2	0	2	0	0	2	2	2	2	3	2	3	4	3	2	1	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.860G>T	p.Gly287Val	p.G287V	ENST00000291906	7/22	62	50	12	71	71	0	strelka-varscan-mutect	PKN3,missense_variant,p.Gly287Val,ENST00000291906,NM_013355.3;RN7SL560P,downstream_gene_variant,,ENST00000577943,;PKN3,upstream_gene_variant,,ENST00000485301,;PKN3,upstream_gene_variant,,ENST00000483521,;	T	ENST00000291906	Transcript	missense_variant	1253/3375	860/2670	287/889	G/V	gGc/gTc		1		1	PKN3	HGNC	HGNC:17999	protein_coding	YES	CCDS6908.1	ENSP00000291906	Q6P5Z2	A0A024R8D6	UPI000013E087	NM_013355.3	deleterious(0)		7/22		Gene3D:2.60.40.150,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF166,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	128713076	128713076	G	T	1	0	0	0	0	1	0	0	0	12077	1203	42	2		2	PKN3	9	128713076	Missense_Mutation	SNP	G	C3L-01924_TP	5339876	128713076	9681641	330	8645											
LAMC3	0	.	GRCh38	chr9	131079271	131079271	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagactgctgcccaggcgacGctacggcaaacagaacccct	11	4	10	16	3	0	2	0	0	0	2	0	3	0	2	3	2	5	3	3	2	3	1	rs145960571		C3L-01924_TP	C3L-01924_NB	G	G																c.3900G>C	p.=	p.T1300T	ENST00000361069	23/28	216	190	26	242	242	0	strelka-varscan-mutect	LAMC3,synonymous_variant,p.=,ENST00000361069,NM_006059.3;LAMC3,synonymous_variant,p.=,ENST00000355452,;LAMC3,intron_variant,,ENST00000480883,;	C	ENST00000361069	Transcript	synonymous_variant	4033/6133	3900/4728	1300/1575	T	acG/acC	rs145960571,COSM1460587	1		1	LAMC3	HGNC	HGNC:6494	protein_coding	YES	CCDS6938.1	ENSP00000354360	Q9Y6N6		UPI000013D6D3	NM_006059.3			23/28		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,Low_complexity_(Seg):seg											0,1						LOW	1	SNV	2		0,1	1										PASS		rs145960571	.												C	2	2	29	131079271	131079271	G	C	1	0	0	0	0	0	0	0	1	8520	1074	38	4		4	LAMC3	9	131079271	Silent	SNP	G	C3L-01924_TP	2366195	131079271	7315446	331	8646											
PRRC2B	0	.	GRCh38	chr9	131475929	131475929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagacaccctgacgcatttgGtggccggggctttgaggaca	8	8	14	11	2	0	3	0	2	0	1	0	4	0	4	2	5	0	2	2	5	0	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.3800G>T	p.Gly1267Val	p.G1267V	ENST00000357304	15/31	95	68	27	88	88	0	strelka-varscan-mutect	PRRC2B,missense_variant,p.Gly1267Val,ENST00000357304,NM_013318.3;PRRC2B,intron_variant,,ENST00000405995,;PRRC2B,upstream_gene_variant,,ENST00000451855,;PRRC2B,downstream_gene_variant,,ENST00000456307,;	T	ENST00000357304	Transcript	missense_variant	3855/11042	3800/6690	1267/2229	G/V	gGt/gTt		1		1	PRRC2B	HGNC	HGNC:28121	protein_coding	YES	CCDS48044.1	ENSP00000349856	Q5JSZ5		UPI00002374A3	NM_013318.3	tolerated(0.15)		15/31		hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	29	131475929	131475929	G	T	1	0	0	0	0	1	0	0	0	12749	1261	44	2		2	PRRC2B	9	131475929	Missense_Mutation	SNP	G	C3L-01924_TP	396658	131475929	6918788	332	8647											
DDX31	0	.	GRCh38	chr9	132648459	132648459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcaaacaccaaccacCgcagccgactaaaatgaatg	16	6	5	14	2	2	1	2	1	0	0	2	2	2	1	4	0	3	1	4	0	5	2	rs200289752		C3L-01924_TP	C3L-01924_NB	C	C																c.1148G>T	p.Arg383Leu	p.R383L	ENST00000372159	10/20	135	113	22	169	169	0	strelka-varscan-mutect	DDX31,missense_variant,p.Arg383Leu,ENST00000372159,;DDX31,missense_variant,p.Arg383Leu,ENST00000372153,NM_022779.7;DDX31,missense_variant,p.Arg278Leu,ENST00000438527,;DDX31,missense_variant,p.Arg383Leu,ENST00000310532,NM_138620.1;	A	ENST00000372159	Transcript	missense_variant	1300/4577	1148/2556	383/851	R/L	cGg/cTg	rs200289752	1		-1	DDX31	HGNC	HGNC:16715	protein_coding	YES	CCDS6951.1	ENSP00000361232	Q9H8H2		UPI00000736CA		deleterious(0.04)		10/20		Gene3D:3.40.50.300,Pfam_domain:PF00270,PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF89,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs200289752	.												A	3	1	29	132648459	132648459	C	A	1	0	0	0	0	1	0	0	0	4158	652	23	1		1	DDX31	9	132648459	Missense_Mutation	SNP	C	C3L-01924_TP	1172530	132648459	5746258	333	8648											
SARDH	0	.	GRCh38	chr9	133696226	133696226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacctcaggctccatacctgGgggtcggctgacatctgcgg	7	8	13	13	2	2	1	1	1	1	0	4	1	3	1	3	5	3	2	3	5	2	1			C3L-01924_TP	C3L-01924_NB	G	G																c.1804C>T	p.Pro602Ser	p.P602S	ENST00000371872	14/21	106	94	12	141	141	0	varscan-mutect	SARDH,missense_variant,p.Pro602Ser,ENST00000371872,NM_007101.3;SARDH,missense_variant,p.Pro602Ser,ENST00000439388,NM_001134707.1;SARDH,missense_variant,p.Pro322Ser,ENST00000422262,;SARDH,missense_variant,p.Pro30Ser,ENST00000371868,;SARDH,missense_variant,p.Pro602Ser,ENST00000427237,;	A	ENST00000371872	Transcript	missense_variant	2062/3344	1804/2757	602/918	P/S	Cca/Tca	COSM4655446,COSM4655447	1		-1	SARDH	HGNC	HGNC:10536	protein_coding	YES	CCDS6978.1	ENSP00000360938	Q9UL12		UPI000006F076	NM_007101.3	tolerated(0.23)		14/21		Gene3D:3.30.70.1400,Pfam_domain:PF01571,Superfamily_domains:SSF103025											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	29	133696226	133696226	G	A	1	0	0	0	0	1	0	0	0	14102	1246	43	3		3	SARDH	9	133696226	Missense_Mutation	SNP	G	C3L-01924_TP	1047767	133696226	4698491	334	8649											
SLC39A12	0	.	GRCh38	chr10	17981400	17981400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactttaagcaaatgagtcCagggatcatccagcagctcc	12	8	10	11	0	1	1	1	1	0	0	4	3	4	3	3	2	3	3	3	2	2	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1013C>G	p.Pro338Arg	p.P338R	ENST00000377369	6/13	66	56	10	125	125	0	strelka-varscan-mutect	SLC39A12,missense_variant,p.Pro338Arg,ENST00000377369,NM_001145195.1;SLC39A12,missense_variant,p.Pro338Arg,ENST00000377371,NM_001282733.1;SLC39A12,missense_variant,p.Pro338Arg,ENST00000377374,NM_152725.3;SLC39A12,missense_variant,p.Pro204Arg,ENST00000539911,NM_001282734.1;	G	ENST00000377369	Transcript	missense_variant	1286/2808	1013/2076	338/691	P/R	cCa/cGa		1		1	SLC39A12	HGNC	HGNC:20860	protein_coding	YES	CCDS44362.1	ENSP00000366586	Q504Y0		UPI00004044FC	NM_001145195.1	deleterious(0)		6/13		hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	17981400	17981400	C	G	1	0	0	0	0	1	0	0	0	14893	594	21	4		4	SLC39A12	10	17981400	Missense_Mutation	SNP	C	C3L-01924_TP		17981400	115816022	335	8650											
CCDC7	0	.	GRCh38	chr10	32472527	32472527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaaaagttgtgaagctctgGcacagaaaattgaaggtgat	15	10	12	4	0	1	5	0	4	1	1	1	5	1	5	0	2	1	3	0	2	6	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.724G>T	p.Ala242Ser	p.A242S	ENST00000362006	8/18	169	145	24	195	195	0	strelka-varscan-mutect	CCDC7,missense_variant,p.Ala242Ser,ENST00000362006,NM_145023.5,NM_001026383.2;CCDC7,missense_variant,p.Ala242Ser,ENST00000277657,;CCDC7,3_prime_UTR_variant,,ENST00000545067,;CCDC7,3_prime_UTR_variant,,ENST00000535327,;CCDC7,intron_variant,,ENST00000537047,;CCDC7,intron_variant,,ENST00000539197,;	T	ENST00000362006	Transcript	missense_variant	1231/2093	724/1461	242/486	A/S	Gca/Tca		1		1	CCDC7	HGNC	HGNC:26533	protein_coding	YES	CCDS7173.1	ENSP00000355078	Q96M83		UPI00000745EB	NM_145023.5,NM_001026383.2	tolerated(0.18)		8/18		hmmpanther:PTHR22035:SF4,hmmpanther:PTHR22035																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	32472527	32472527	G	T	1	0	0	0	0	1	0	0	0	2542	1203	42	2		2	CCDC7	10	32472527	Missense_Mutation	SNP	G	C3L-01924_TP	14491127	32472527	101324895	336	8651											
BMS1	0	.	GRCh38	chr10	42823183	42823183	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgattcgaacagtcagtggGataagggggcagatcaagaa	14	7	15	5	1	2	3	2	1	0	2	3	5	2	4	0	3	1	1	0	3	4	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.3198G>T	p.=	p.G1066G	ENST00000374518	20/23	74	56	18	76	76	0	strelka-varscan-mutect	BMS1,synonymous_variant,p.=,ENST00000374518,NM_014753.3;	T	ENST00000374518	Transcript	synonymous_variant	3261/7753	3198/3849	1066/1282	G	ggG/ggT		1		1	BMS1	HGNC	HGNC:23505	protein_coding	YES	CCDS7199.1	ENSP00000363642	Q14692		UPI0000126A3E	NM_014753.3			20/23		hmmpanther:PTHR12858:SF2,hmmpanther:PTHR12858,Pfam_domain:PF04950,SMART_domains:SM01362																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	42823183	42823183	G	T	1	0	0	0	0	0	0	0	1	1627	1161	41	2		2	BMS1	10	42823183	Silent	SNP	G	C3L-01924_TP	10350656	42823183	90974239	337	8652											
ALOX5	0	.	GRCh38	chr10	45424039	45424039	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctctctcctggtctgcAggatggagaacctgttcatc	7	12	10	12	0	3	2	1	1	2	1	6	4	4	3	3	3	2	2	3	3	1	1	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.555-2A>G		p.X185_splice	ENST00000374391		122	104	18	111	111	0	strelka-varscan-mutect	ALOX5,splice_acceptor_variant,,ENST00000374391,NM_001256153.1,NM_000698.3;ALOX5,splice_acceptor_variant,,ENST00000542434,NM_001256154.1;ALOX5,splice_acceptor_variant,,ENST00000612635,;ALOX5,upstream_gene_variant,,ENST00000483623,;	G	ENST00000374391	Transcript	splice_acceptor_variant	-/2506	555/2025	185/674				1		1	ALOX5	HGNC	HGNC:435	protein_coding	YES	CCDS7212.1	ENSP00000363512	P09917		UPI0000043F84	NM_001256153.1,NM_000698.3				4/13																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	29	45424039	45424039	A	G	1	0	0	0	0	0	0	1	0	640	202	7	5		5	ALOX5	10	45424039	Splice_Site	SNP	A	C3L-01924_TP	2600856	45424039	88373383	338	8653											
MBL2	0	.	GRCh38	chr10	52768191	52768191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggagcaggggacgtcattCcactggccatttttcagtag	8	11	13	9	1	2	0	2	0	0	0	3	2	3	2	2	4	1	2	2	4	1	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.693G>T	p.Trp231Cys	p.W231C	ENST00000373968	4/4	108	89	19	109	108	1	strelka-varscan-mutect	MBL2,missense_variant,p.Trp231Cys,ENST00000373968,NM_000242.2;	A	ENST00000373968	Transcript	missense_variant	758/3569	693/747	231/248	W/C	tgG/tgT		1		-1	MBL2	HGNC	HGNC:6922	protein_coding	YES	CCDS7247.1	ENSP00000363079	P11226		UPI0000035011	NM_000242.2	deleterious(0)		4/4		PROSITE_profiles:PS50041,hmmpanther:PTHR24020,PROSITE_patterns:PS00615,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	52768191	52768191	C	A	1	0	0	0	0	1	0	0	0	9282	856	30	2		2	MBL2	10	52768191	Missense_Mutation	SNP	C	C3L-01924_TP	7344152	52768191	81029231	339	8654											
ANK3	0	.	GRCh38	chr10	60070784	60070784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccaaattcattatcttttCcagatccattactttccagt	10	16	4	11	0	2	1	1	0	1	1	5	1	5	1	4	1	1	0	4	1	3	6	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.10097G>A	p.Gly3366Glu	p.G3366E	ENST00000280772	37/44	343	308	35	330	330	0	strelka-varscan-mutect	ANK3,missense_variant,p.Gly3366Glu,ENST00000280772,NM_020987.3;ANK3,intron_variant,,ENST00000373827,NM_001204403.1;ANK3,intron_variant,,ENST00000503366,NM_001204404.1;ANK3,intron_variant,,ENST00000610321,;ANK3,intron_variant,,ENST00000355288,NM_001149.3;ANK3,intron_variant,,ENST00000616444,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000511043,;ANK3,upstream_gene_variant,,ENST00000610901,;ANK3,upstream_gene_variant,,ENST00000613207,;ANK3,missense_variant,p.Gly596Glu,ENST00000621739,;	T	ENST00000280772	Transcript	missense_variant	10289/16874	10097/13134	3366/4377	G/E	gGa/gAa		1		-1	ANK3	HGNC	HGNC:494	protein_coding	YES	CCDS7258.1	ENSP00000280772	Q12955		UPI0000141BA9	NM_020987.3	tolerated_low_confidence(0.15)		37/44		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	60070784	60070784	C	T	1	0	0	0	0	1	0	0	0	722	855	30	3		3	ANK3	10	60070784	Missense_Mutation	SNP	C	C3L-01924_TP	7302593	60070784	73726638	340	8655											
CDH23	0	.	GRCh38	chr10	71810475	71810475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccttctcatctagttcCatgtggacaagaagggccgg	9	10	10	12	1	2	1	1	0	2	1	4	2	3	2	4	3	1	1	4	3	4	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2263C>G	p.His755Asp	p.H755D	ENST00000398788	15/23	255	207	48	242	242	0	strelka-varscan-mutect	CDH23,missense_variant,p.His3000Asp,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.His2995Asp,ENST00000622827,;CDH23,missense_variant,p.His755Asp,ENST00000398788,NM_001171933.1;CDH23,missense_variant,p.His755Asp,ENST00000619887,NM_001171934.1;CDH23,non_coding_transcript_exon_variant,,ENST00000475158,;	G	ENST00000398788	Transcript	missense_variant	2580/4329	2263/3345	755/1114	H/D	Cat/Gat		1		1	CDH23	HGNC	HGNC:13733	protein_coding	YES	CCDS53540.1	ENSP00000381768	Q9H251		UPI0000496839	NM_001171933.1	deleterious(0)		15/23		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF277																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	71810475	71810475	C	G	1	0	0	0	0	1	0	0	0	2811	608	21	4		4	CDH23	10	71810475	Missense_Mutation	SNP	C	C3L-01924_TP	11739691	71810475	61986947	341	8656											
P4HA1	0	.	GRCh38	chr10	73074827	73074827	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattgaagtaaaaaagccTggatgagccaaagactgggg	16	6	12	7	0	0	3	0	2	0	1	0	4	0	4	3	3	2	1	3	3	6	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.57A>C	p.=	p.P19P	ENST00000263556	2/15	327	272	55	343	343	0	strelka-varscan-mutect	P4HA1,synonymous_variant,p.=,ENST00000263556,NM_000917.3;P4HA1,synonymous_variant,p.=,ENST00000394890,NM_001017962.2,NM_001142595.1;P4HA1,synonymous_variant,p.=,ENST00000440381,NM_001142596.1;P4HA1,synonymous_variant,p.=,ENST00000307116,;P4HA1,synonymous_variant,p.=,ENST00000373008,;RP11-344N10.2,downstream_gene_variant,,ENST00000431293,;	G	ENST00000263556	Transcript	synonymous_variant	298/2844	57/1605	19/534	P	ccA/ccC		1		-1	P4HA1	HGNC	HGNC:8546	protein_coding	YES	CCDS7320.1	ENSP00000263556	P13674	Q5VSQ6	UPI000002B050	NM_000917.3			2/15		hmmpanther:PTHR10869,hmmpanther:PTHR10869:SF76																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	29	73074827	73074827	T	G	1	0	0	0	0	0	0	0	1	11433	1567	55	5		5	P4HA1	10	73074827	Silent	SNP	T	C3L-01924_TP	1264352	73074827	60722595	342	8657											
GRID1	0	.	GRCh38	chr10	85724599	85724599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatccccactgaatagtcCatgtaccgcttgctgaagtc	11	10	8	12	1	0	3	0	2	0	1	3	3	2	3	4	0	2	3	4	0	5	3			C3L-01924_TP	C3L-01924_NB	C	C																c.1611G>T	p.Met537Ile	p.M537I	ENST00000327946	11/16	188	164	24	219	219	0	varscan-mutect	GRID1,missense_variant,p.Met537Ile,ENST00000327946,NM_017551.2;GRID1,missense_variant,p.Met537Ile,ENST00000464741,;	A	ENST00000327946	Transcript	missense_variant	1697/5834	1611/3030	537/1009	M/I	atG/atT	COSM4529446	1		-1	GRID1	HGNC	HGNC:4575	protein_coding	YES	CCDS31236.1	ENSP00000330148	Q9ULK0		UPI00001D8051	NM_017551.2	deleterious(0.01)		11/16		Gene3D:3.40.190.10,Pfam_domain:PF10613,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF108,SMART_domains:SM00079,Superfamily_domains:SSF53850											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	29	85724599	85724599	C	A	1	0	0	0	0	1	0	0	0	6651	594	21	2		2	GRID1	10	85724599	Missense_Mutation	SNP	C	C3L-01924_TP	12649772	85724599	48072823	343	8658											
WAPL	0	.	GRCh38	chr10	86471052	86471052	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctaccatcccatgtgctctCaggtgcattcgaaaactggg	9	10	10	12	1	1	0	1	0	1	0	4	1	2	0	2	2	4	3	2	2	3	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2082G>A	p.=	p.L694L	ENST00000298767	8/19	251	238	13	253	253	0	strelka-varscan	WAPL,synonymous_variant,p.=,ENST00000298767,NM_001318328.1,NM_015045.2;WAPL,synonymous_variant,p.=,ENST00000618527,;WAPL,5_prime_UTR_variant,,ENST00000263070,;WAPL,upstream_gene_variant,,ENST00000372075,;WAPL,non_coding_transcript_exon_variant,,ENST00000489996,;	T	ENST00000298767	Transcript	synonymous_variant	2555/6333	2082/3573	694/1190	L	ctG/ctA		1		-1	WAPL	HGNC	HGNC:23293	protein_coding	YES	CCDS7375.1	ENSP00000298767	Q7Z5K2		UPI00001AE41A	NM_001318328.1,NM_015045.2			8/19		PROSITE_profiles:PS51271,hmmpanther:PTHR22100:SF13,hmmpanther:PTHR22100,Pfam_domain:PF07814,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	86471052	86471052	C	T	1	0	0	0	0	0	0	0	1	17808	813	29	3		3	WAPL	10	86471052	Silent	SNP	C	C3L-01924_TP	746453	86471052	47326370	344	8659											
MINPP1	0	.	GRCh38	chr10	87505112	87505112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctattgtcgggccccgaggCtccgtggcgggaccctgagc	4	7	16	14	4	0	1	0	1	0	0	2	3	1	2	4	4	1	2	4	4	1	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.197C>T	p.Ala66Val	p.A66V	ENST00000371996	1/5	465	361	104	373	373	0	strelka-varscan-mutect	MINPP1,missense_variant,p.Ala66Val,ENST00000371996,NM_004897.4;MINPP1,missense_variant,p.Ala66Val,ENST00000371994,NM_001178117.1;MINPP1,upstream_gene_variant,,ENST00000536010,NM_001178118.1;MIR4678,downstream_gene_variant,,ENST00000636979,;	T	ENST00000371996	Transcript	missense_variant	238/2415	197/1464	66/487	A/V	gCt/gTt		1		1	MINPP1	HGNC	HGNC:7102	protein_coding	YES	CCDS7384.1	ENSP00000361064	Q9UNW1		UPI0000035984	NM_004897.4	tolerated(0.14)		1/5		hmmpanther:PTHR20963,hmmpanther:PTHR20963:SF8,PIRSF_domain:PIRSF000894,Superfamily_domains:SSF53254																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	87505112	87505112	C	T	1	0	0	0	0	1	0	0	0	9553	797	28	3		3	MINPP1	10	87505112	Missense_Mutation	SNP	C	C3L-01924_TP	1034060	87505112	46292310	345	8660											
CYP26C1	0	.	GRCh38	chr10	93062850	93062850	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtctacgacgcctccaaagCgctcaccttccgcatggccg	8	7	9	17	5	2	0	1	0	1	0	4	1	4	0	5	1	2	2	5	1	2	2	rs558795251		C3L-01924_TP	C3L-01924_NB	C	C																c.560C>G	p.Ala187Gly	p.A187G	ENST00000285949	3/6	201	163	38	178	178	0	strelka-varscan-mutect	CYP26C1,missense_variant,p.Ala187Gly,ENST00000285949,NM_183374.2;EXOC6,downstream_gene_variant,,ENST00000260762,NM_001319195.1,NM_019053.4;EXOC6,downstream_gene_variant,,ENST00000371552,NM_001319194.1,NM_001013848.2;EXOC6,downstream_gene_variant,,ENST00000443748,NM_001319200.1;RP11-348J12.2,upstream_gene_variant,,ENST00000444965,;CYP26C1,missense_variant,p.Ala187Gly,ENST00000624358,;EXOC6,downstream_gene_variant,,ENST00000495132,;	G	ENST00000285949	Transcript	missense_variant	560/1569	560/1569	187/522	A/G	gCg/gGg	rs558795251	1		1	CYP26C1	HGNC	HGNC:20577	protein_coding	YES	CCDS7425.1	ENSP00000285949	Q6V0L0		UPI00002289F0	NM_183374.2	tolerated(0.1)		3/6		hmmpanther:PTHR24286,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		rs558795251	.												G	3	3	29	93062850	93062850	C	G	1	0	0	0	0	1	0	0	0	3960	768	27	4		4	CYP26C1	10	93062850	Missense_Mutation	SNP	C	C3L-01924_TP	5557738	93062850	40734572	346	8661											
ALDH18A1	0	.	GRCh38	chr10	95621245	95621245	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcagcagaggagctgcaAgtctccctgaaaagccatta	12	9	10	10	0	2	2	1	1	1	1	3	3	2	3	2	1	4	4	2	1	4	2	rs201069261		C3L-01924_TP	C3L-01924_NB	A	A																c.1253T>G	p.Leu418Arg	p.L418R	ENST00000371224	12/18	315	299	16	347	347	0	strelka-varscan-mutect	ALDH18A1,missense_variant,p.Leu418Arg,ENST00000371224,NM_001323414.1,NM_002860.3;ALDH18A1,missense_variant,p.Leu416Arg,ENST00000371221,NM_001017423.1;ALDH18A1,upstream_gene_variant,,ENST00000485428,;ALDH18A1,downstream_gene_variant,,ENST00000489386,;	C	ENST00000371224	Transcript	missense_variant	1391/3359	1253/2388	418/795	L/R	cTt/cGt	rs201069261	1		-1	ALDH18A1	HGNC	HGNC:9722	protein_coding	YES	CCDS7443.1	ENSP00000360268	P54886		UPI0000131056	NM_001323414.1,NM_002860.3	deleterious(0.01)		12/18		HAMAP:MF_00412,hmmpanther:PTHR11063:SF8,hmmpanther:PTHR11063,TIGRFAM_domain:TIGR01092,Gene3D:3.40.605.10,TIGRFAM_domain:TIGR00407,Pfam_domain:PF00171,PIRSF_domain:PIRSF036429,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		rs201069261	.												C	3	2	29	95621245	95621245	A	C	1	0	0	0	0	1	0	0	0	589	72	3	5		5	ALDH18A1	10	95621245	Missense_Mutation	SNP	A	C3L-01924_TP	2558395	95621245	38176177	347	8662											
PIK3AP1	0	.	GRCh38	chr10	96626897	96626897	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagattggtcattcccaTgctgttgcctagaaacgcag	9	11	9	12	1	1	2	1	0	0	2	3	2	3	2	3	1	3	3	3	1	2	4	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1480A>G	p.Met494Val	p.M494V	ENST00000339364	10/17	205	191	14	219	219	0	strelka-varscan-mutect	PIK3AP1,missense_variant,p.Met494Val,ENST00000339364,NM_152309.2;PIK3AP1,missense_variant,p.Met316Val,ENST00000371110,;PIK3AP1,missense_variant,p.Met93Val,ENST00000371109,;PIK3AP1,downstream_gene_variant,,ENST00000468783,;	C	ENST00000339364	Transcript	missense_variant	1600/4803	1480/2418	494/805	M/V	Atg/Gtg		1		-1	PIK3AP1	HGNC	HGNC:30034	protein_coding	YES	CCDS31259.1	ENSP00000339826	Q6ZUJ8		UPI00001F947F	NM_152309.2	tolerated(0.52)		10/17		hmmpanther:PTHR16267,hmmpanther:PTHR16267:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	96626897	96626897	T	C	1	0	0	0	0	1	0	0	0	12003	1464	51	5		5	PIK3AP1	10	96626897	Missense_Mutation	SNP	T	C3L-01924_TP	1005652	96626897	37170525	348	8663											
MFSD13A	0	.	GRCh38	chr10	102473934	102473934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcggcactcctctttGgcatggttgccttggtgacc	4	12	11	14	1	1	1	0	1	1	0	3	1	2	1	4	4	2	3	4	4	0	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1213G>T	p.Gly405Cys	p.G405C	ENST00000238936	9/10	72	49	23	81	81	0	strelka-varscan-mutect	MFSD13A,missense_variant,p.Gly405Cys,ENST00000238936,NM_024789.3;MFSD13A,downstream_gene_variant,,ENST00000369931,;MFSD13A,downstream_gene_variant,,ENST00000450947,;MFSD13A,downstream_gene_variant,,ENST00000469294,;ACTR1A,intron_variant,,ENST00000636707,;	T	ENST00000238936	Transcript	missense_variant	1450/2852	1213/1554	405/517	G/C	Ggc/Tgc		1		1	MFSD13A	HGNC	HGNC:26196	protein_coding	YES	CCDS7535.1	ENSP00000238936	Q14CX5		UPI00002374ED	NM_024789.3	deleterious(0)		9/10		hmmpanther:PTHR28658:SF3,hmmpanther:PTHR28658,Pfam_domain:PF13347,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	29	102473934	102473934	G	T	1	0	0	0	0	1	0	0	0	9483	1348	47	2		2	MFSD13A	10	102473934	Missense_Mutation	SNP	G	C3L-01924_TP	5847037	102473934	31323488	349	8664											
CFAP43	0	.	GRCh38	chr10	104172416	104172416	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atactttttcatacctttgcCacttcttcctgactttcatc	7	19	2	13	0	3	1	2	1	1	0	5	1	4	1	3	0	3	0	3	0	2	8	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2580G>T	p.=	p.V860V	ENST00000357060	20/38	276	226	50	302	300	2	strelka-varscan-mutect	CFAP43,synonymous_variant,p.=,ENST00000357060,NM_025145.5;CFAP43,synonymous_variant,p.=,ENST00000434629,;CFAP43,synonymous_variant,p.=,ENST00000278064,;	A	ENST00000357060	Transcript	synonymous_variant	2696/5365	2580/4998	860/1665	V	gtG/gtT		1		-1	CFAP43	HGNC	HGNC:26684	protein_coding	YES	CCDS31281.1	ENSP00000349568	Q8NDM7		UPI0000D60FC7	NM_025145.5			20/38		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14885,hmmpanther:PTHR14885:SF1																	LOW	1	SNV	1			1										PASS		rs1305781688	.												A	2	1	29	104172416	104172416	C	A	1	0	0	0	0	0	0	0	1	3018	581	21	2		2	CFAP43	10	104172416	Silent	SNP	C	C3L-01924_TP	1698482	104172416	29625006	350	8665											
SORCS3	0	.	GRCh38	chr10	105201223	105201223	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggatcagtggtctcagaacCctgtgtctgtgccaattggg	8	11	13	9	0	3	1	2	0	2	1	4	2	3	2	2	3	2	0	2	3	2	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2231C>G	p.Pro744Arg	p.P744R	ENST00000369701	16/27	139	108	31	177	177	0	strelka-varscan-mutect	SORCS3,missense_variant,p.Pro744Arg,ENST00000369701,NM_014978.2;SORCS3,missense_variant,p.Pro744Arg,ENST00000369699,;SORCS3,intron_variant,,ENST00000393176,;	G	ENST00000369701	Transcript	missense_variant	2458/5757	2231/3669	744/1222	P/R	cCc/cGc		1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2	deleterious(0.01)		16/27		Pfam_domain:PF15901,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,SMART_domains:SM00602																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	105201223	105201223	C	G	1	0	0	0	0	1	0	0	0	15254	623	22	4		4	SORCS3	10	105201223	Missense_Mutation	SNP	C	C3L-01924_TP	1028807	105201223	28596199	351	8666											
RBM20	0	.	GRCh38	chr10	110781130	110781130	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaattgccttttcaccccCcagccagacacgaggccccg	8	7	8	18	2	1	1	1	0	0	1	1	2	1	1	7	1	3	1	7	1	1	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.521C>A	p.Pro174His	p.P174H	ENST00000369519	2/14	468	362	106	443	443	0	strelka-varscan-mutect	RBM20,missense_variant,p.Pro174His,ENST00000369519,NM_001134363.2;	A	ENST00000369519	Transcript	missense_variant	579/7233	521/3684	174/1227	P/H	cCc/cAc		1		1	RBM20	HGNC	HGNC:27424	protein_coding	YES	CCDS44477.1	ENSP00000358532	Q5T481		UPI00044338F1	NM_001134363.2	tolerated(0.09)		2/14																			MODERATE	1	SNV	1			1										PASS		rs971703468	.												A	3	1	29	110781130	110781130	C	A	1	0	0	0	0	1	0	0	0	13287	623	22	2		2	RBM20	10	110781130	Missense_Mutation	SNP	C	C3L-01924_TP	5579907	110781130	23016292	352	8667											
RBM20	0	.	GRCh38	chr10	110812520	110812520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggatggacccctgggCacatgatcgcaaacaccacc	12	4	11	14	1	0	1	0	1	0	0	1	4	0	4	4	4	1	2	4	4	1	0	rs762685493		C3L-01924_TP	C3L-01924_NB	C	C																c.2123C>A	p.Ala708Glu	p.A708E	ENST00000369519	9/14	340	256	84	358	358	0	strelka-varscan-mutect	RBM20,missense_variant,p.Ala708Glu,ENST00000369519,NM_001134363.2;	A	ENST00000369519	Transcript	missense_variant	2181/7233	2123/3684	708/1227	A/E	gCa/gAa	rs762685493	1		1	RBM20	HGNC	HGNC:27424	protein_coding	YES	CCDS44477.1	ENSP00000358532	Q5T481		UPI00044338F1	NM_001134363.2	tolerated(0.74)		9/14																			MODERATE	1	SNV	1			1										PASS		rs762685493	.												A	3	1	29	110812520	110812520	C	A	1	0	0	0	0	1	0	0	0	13287	710	25	2		2	RBM20	10	110812520	Missense_Mutation	SNP	C	C3L-01924_TP	31390	110812520	22984902	353	8668											
BCCIP	0	.	GRCh38	chr10	125853172	125853172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttctctgaaggctggaCtaattcaatcaagatcaact	12	13	8	8	0	4	2	3	1	1	1	5	3	4	3	0	3	1	2	0	3	5	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.898C>A	p.Leu300Ile	p.L300I	ENST00000368759	8/8	120	110	10	146	146	0	strelka-varscan-mutect	BCCIP,missense_variant,p.Leu300Ile,ENST00000368759,NM_016567.3;DHX32,intron_variant,,ENST00000284690,NM_018180.2;DHX32,intron_variant,,ENST00000368721,;	A	ENST00000368759	Transcript	missense_variant	910/1433	898/969	300/322	L/I	Cta/Ata		1		1	BCCIP	HGNC	HGNC:978	protein_coding	YES	CCDS7649.1	ENSP00000357748	Q9P287		UPI0000073C44	NM_016567.3	tolerated_low_confidence(0.33)		8/8																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	125853172	125853172	C	A	1	0	0	0	0	1	0	0	0	1503	564	20	2		2	BCCIP	10	125853172	Missense_Mutation	SNP	C	C3L-01924_TP	15040652	125853172	7944250	354	8669											
JAKMIP3	0	.	GRCh38	chr10	132135155	132135155	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtcggaagagaggaatGagctggtgagcgcgggcggg	8	6	21	6	4	0	3	0	2	0	1	1	6	0	5	0	5	3	2	0	5	2	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.964G>T	p.Glu322Ter	p.E322*	ENST00000298622	4/24	60	51	9	89	89	0	strelka-varscan-mutect	JAKMIP3,stop_gained,p.Glu322Ter,ENST00000298622,NM_001105521.2;	T	ENST00000298622	Transcript	stop_gained	1102/6626	964/2535	322/844	E/*	Gag/Tag		1		1	JAKMIP3	HGNC	HGNC:23523	protein_coding	YES	CCDS44494.1	ENSP00000298622	Q5VZ66		UPI000157482F	NM_001105521.2			4/24		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF9																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	29	132135155	132135155	G	T	1	0	0	0	0	0	1	0	0	7855	1304	45	2		2	JAKMIP3	10	132135155	Nonsense_Mutation	SNP	G	C3L-01924_TP	6281983	132135155	1662267	355	8670											
IGF2	0	.	GRCh38	chr11	2135476	2135476	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagcacgaggcgaaggcCaagaaggtgagaagcaccag	15	2	15	9	2	0	2	0	1	0	2	0	5	0	2	2	3	3	3	2	3	4	0			C3L-01924_TP	C3L-01924_NB	C	C																c.216G>A	p.=	p.L72L	ENST00000434045	3/5	143	119	24	118	118	0	strelka-varscan-mutect	IGF2,synonymous_variant,p.=,ENST00000416167,NM_000612.5;IGF2,synonymous_variant,p.=,ENST00000381406,;IGF2,synonymous_variant,p.=,ENST00000381395,NM_001007139.5,NM_001291861.2;IGF2,synonymous_variant,p.=,ENST00000434045,NM_001127598.2;IGF2,synonymous_variant,p.=,ENST00000381389,NM_001291862.2;IGF2,synonymous_variant,p.=,ENST00000381392,;IGF2,synonymous_variant,p.=,ENST00000418738,;MIR483,upstream_gene_variant,,ENST00000385070,;INS-IGF2,3_prime_UTR_variant,,ENST00000356578,;	T	ENST00000434045	Transcript	synonymous_variant	601/1583	216/711	72/236	L	ttG/ttA	COSM5372267,COSM5372268	1		-1	IGF2	HGNC	HGNC:5466	protein_coding	YES	CCDS44517.1	ENSP00000391826	P01344		UPI0001751501	NM_001127598.2			3/5		Gene3D:1.10.100.10,hmmpanther:PTHR11454,hmmpanther:PTHR11454:SF10,Superfamily_domains:SSF56994											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	29	2135476	2135476	C	T	1	0	0	0	0	0	0	0	1	7478	593	21	3		3	IGF2	11	2135476	Silent	SNP	C	C3L-01924_TP		2135476	132951146	356	8671											
NLRP14	0	.	GRCh38	chr11	7057677	7057677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttctgtgttgttttccagGctggaatcttgcaacctaac	7	17	8	9	0	2	0	0	0	2	0	3	1	3	1	2	2	3	4	2	2	3	7	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2292G>T	p.Arg764Ser	p.R764S	ENST00000299481	7/12	334	253	81	439	439	0	strelka-varscan-mutect	NLRP14,missense_variant,p.Arg764Ser,ENST00000299481,NM_176822.3;	T	ENST00000299481	Transcript	missense_variant,splice_region_variant	2638/3628	2292/3282	764/1093	R/S	agG/agT		1		1	NLRP14	HGNC	HGNC:22939	protein_coding	YES	CCDS7776.1	ENSP00000299481	Q86W24		UPI0000167F6E	NM_176822.3	tolerated(0.44)		7/12		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF154,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	29	7057677	7057677	G	T	1	0	0	0	0	1	0	0	0	10513	1217	42	2		2	NLRP14	11	7057677	Missense_Mutation	SNP	G	C3L-01924_TP	4922201	7057677	128028945	357	8672											
OR10A3	0	.	GRCh38	chr11	7938753	7938753	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggttgtaaataagtcatAttggctgtgccatagaacag	12	13	11	5	0	1	1	1	0	0	1	1	1	1	1	1	2	2	3	1	2	6	7	rs138525938		C3L-01924_TP	C3L-01924_NB	A	A																c.768T>C	p.=	p.N256N	ENST00000360759	1/1	169	149	20	245	245	0	strelka-varscan-mutect	OR10A3,synonymous_variant,p.=,ENST00000360759,NM_001003745.1;	G	ENST00000360759	Transcript	synonymous_variant	842/1061	768/945	256/314	N	aaT/aaC	rs138525938	1		-1	OR10A3	HGNC	HGNC:8162	protein_coding	YES	CCDS31421.1	ENSP00000353988	P58181	A0A126GVZ2	UPI00000015AD	NM_001003745.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF30,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs138525938	.												G	2	3	29	7938753	7938753	A	G	1	0	0	0	0	0	0	0	1	10967	446	16	5		5	OR10A3	11	7938753	Silent	SNP	A	C3L-01924_TP	881076	7938753	127147869	358	8673											
DENND5A	0	.	GRCh38	chr11	9178367	9178367	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctgacagaaaagatgcCtggtgggaccaaaaagaagc	16	6	12	7	0	1	5	0	2	1	3	1	6	1	6	2	2	2	0	2	2	5	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1672-1G>T		p.X558_splice	ENST00000328194		121	107	14	180	180	0	strelka-varscan-mutect	DENND5A,splice_acceptor_variant,,ENST00000328194,NM_015213.3;DENND5A,splice_acceptor_variant,,ENST00000530044,NM_001243254.1;DENND5A,upstream_gene_variant,,ENST00000526523,;DENND5A,splice_acceptor_variant,,ENST00000526707,;DENND5A,splice_acceptor_variant,,ENST00000527896,;DENND5A,splice_acceptor_variant,,ENST00000530867,;	A	ENST00000328194	Transcript	splice_acceptor_variant	-/5031	1672/3864	558/1287				1		-1	DENND5A	HGNC	HGNC:19344	protein_coding	YES	CCDS31423.1	ENSP00000328524	Q6IQ26		UPI00001C1F29	NM_015213.3				7/22																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	29	9178367	9178367	C	A	1	0	0	0	0	0	0	1	0	4240	695	24	2		2	DENND5A	11	9178367	Splice_Site	SNP	C	C3L-01924_TP	1239614	9178367	125908255	359	8674											
PDE3B	0	.	GRCh38	chr11	14830732	14830732	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttctcgaaagaatcattCaaacttatggaaactcaaca	17	12	4	8	1	4	1	3	0	1	1	5	3	4	2	0	1	3	0	0	1	6	4	rs540418989		C3L-01924_TP	C3L-01924_NB	C	C																c.1842C>T	p.=	p.F614F	ENST00000282096	8/16	75	65	10	76	76	0	strelka-varscan-mutect	PDE3B,synonymous_variant,p.=,ENST00000282096,NM_000922.3;PDE3B,synonymous_variant,p.=,ENST00000455098,;	T	ENST00000282096	Transcript	synonymous_variant	2195/6076	1842/3339	614/1112	F	ttC/ttT	rs540418989	1		1	PDE3B	HGNC	HGNC:8779	protein_coding	YES	CCDS7817.1	ENSP00000282096	Q13370		UPI000013DCB7	NM_000922.3			8/16		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF29																	LOW	1	SNV	1			1										PASS		rs540418989	.												T	2	4	29	14830732	14830732	C	T	1	0	0	0	0	0	0	0	1	11726	825	29	3		3	PDE3B	11	14830732	Silent	SNP	C	C3L-01924_TP	5652365	14830732	120255890	360	8675											
OTOG	0	.	GRCh38	chr11	17576599	17576599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggagtggactatccccccGgagacagtgacatcccatcc	10	6	11	14	1	0	2	0	1	0	1	3	5	3	4	5	3	0	0	5	3	1	1	rs867715728		C3L-01924_TP	C3L-01924_NB	G	G																c.2566G>A	p.Gly856Arg	p.G856R	ENST00000399391	20/55	186	169	17	178	177	1	strelka-varscan-mutect	OTOG,missense_variant,p.Gly844Arg,ENST00000399397,NM_001292063.1;OTOG,missense_variant,p.Gly856Arg,ENST00000399391,NM_001277269.1;OTOG,upstream_gene_variant,,ENST00000342528,;	A	ENST00000399391	Transcript	missense_variant	2566/8778	2566/8778	856/2925	G/R	Gga/Aga	rs867715728,COSM3383370	1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1	deleterious(0)		20/55		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228,Gene3D:2.10.25.10											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs867715728	.												A	3	1	29	17576599	17576599	G	A	1	0	0	0	0	1	0	0	0	11370	1117	39	1		1	OTOG	11	17576599	Missense_Mutation	SNP	G	C3L-01924_TP	2745867	17576599	117510023	361	8676											
KCNC1	0	.	GRCh38	chr11	17772559	17772559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtactcagagtgacacatgtCcgctggcccaggaagaaatt	12	8	11	10	1	1	3	1	1	0	2	2	4	2	4	2	2	1	2	2	2	3	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1465C>T	p.Pro489Ser	p.P489S	ENST00000265969	2/4	161	139	22	178	178	0	strelka-varscan-mutect	KCNC1,missense_variant,p.Pro489Ser,ENST00000379472,NM_004976.4;KCNC1,missense_variant,p.Pro489Ser,ENST00000265969,NM_001112741.1;KCNC1,upstream_gene_variant,,ENST00000525802,;	T	ENST00000265969	Transcript	missense_variant	2656/3887	1465/1758	489/585	P/S	Ccg/Tcg		1		1	KCNC1	HGNC	HGNC:6233	protein_coding	YES	CCDS44547.1	ENSP00000265969	P48547		UPI0000E2291F	NM_001112741.1	tolerated(0.11)		2/4		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF157,Prints_domain:PR01581																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	29	17772559	17772559	C	T	1	0	0	0	0	1	0	0	0	7930	855	30	3		3	KCNC1	11	17772559	Missense_Mutation	SNP	C	C3L-01924_TP	195960	17772559	117314063	362	8677											
PTPN5	0	.	GRCh38	chr11	18743363	18743363	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtcagcaaagaggagaCgaggtttgtggcgttctgtg	9	9	17	6	3	2	2	1	0	1	2	2	5	2	2	0	3	2	3	0	3	1	2	rs202083124		C3L-01924_TP	C3L-01924_NB	C	C																c.358G>C	p.Val120Leu	p.V120L	ENST00000358540	5/15	252	222	30	315	315	0	strelka-varscan-mutect	PTPN5,missense_variant,p.Val120Leu,ENST00000358540,NM_032781.3,NM_006906.1;PTPN5,missense_variant,p.Val96Leu,ENST00000396168,NM_001278238.1,NM_001278239.1;PTPN5,5_prime_UTR_variant,,ENST00000477854,;PTPN5,intron_variant,,ENST00000396170,NM_001039970.1,NM_001278236.1;RP11-1081L13.4,downstream_gene_variant,,ENST00000527285,;PTPN5,non_coding_transcript_exon_variant,,ENST00000496201,;	G	ENST00000358540	Transcript	missense_variant	789/3135	358/1698	120/565	V/L	Gtc/Ctc	rs202083124,COSM3770046,COSM3770047	1		-1	PTPN5	HGNC	HGNC:9657	protein_coding	YES	CCDS7845.1	ENSP00000351342	P54829		UPI00001AE663	NM_032781.3,NM_006906.1	tolerated_low_confidence(1)		5/15		Low_complexity_(Seg):seg,hmmpanther:PTHR19134:SF40,hmmpanther:PTHR19134,PIRSF_domain:PIRSF001997											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs202083124	.												G	3	3	29	18743363	18743363	C	G	1	0	0	0	0	1	0	0	0	12945	536	19	4		4	PTPN5	11	18743363	Missense_Mutation	SNP	C	C3L-01924_TP	970804	18743363	116343259	363	8678											
PTPN5	0	.	GRCh38	chr11	18744113	18744113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggatctgagggcggcgaggGaggagggggtggcggcatct	6	6	23	6	3	2	1	0	1	2	0	2	5	2	4	0	9	0	1	0	9	0	0	rs780842182		C3L-01924_TP	C3L-01924_NB	G	G																c.184C>A	p.Pro62Thr	p.P62T	ENST00000358540	4/15	92	75	17	79	79	0	strelka-varscan-mutect	PTPN5,missense_variant,p.Pro62Thr,ENST00000396170,NM_001039970.1,NM_001278236.1;PTPN5,missense_variant,p.Pro62Thr,ENST00000358540,NM_032781.3,NM_006906.1;PTPN5,missense_variant,p.Pro38Thr,ENST00000396168,NM_001278238.1,NM_001278239.1;PTPN5,upstream_gene_variant,,ENST00000477854,;RP11-1081L13.4,downstream_gene_variant,,ENST00000527285,;PTPN5,non_coding_transcript_exon_variant,,ENST00000496201,;	T	ENST00000358540	Transcript	missense_variant	615/3135	184/1698	62/565	P/T	Ccc/Acc	rs780842182,COSM4473445,COSM4473446	1		-1	PTPN5	HGNC	HGNC:9657	protein_coding	YES	CCDS7845.1	ENSP00000351342	P54829		UPI00001AE663	NM_032781.3,NM_006906.1	tolerated_low_confidence(0.12)		4/15		Low_complexity_(Seg):seg,hmmpanther:PTHR19134:SF40,hmmpanther:PTHR19134,PIRSF_domain:PIRSF001997											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs780842182	.												T	3	4	29	18744113	18744113	G	T	1	0	0	0	0	1	0	0	0	12945	1174	41	2		2	PTPN5	11	18744113	Missense_Mutation	SNP	G	C3L-01924_TP	750	18744113	116342509	364	8679											
MUC15	0	.	GRCh38	chr11	26563137	26563137	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttcatttctgtcgtcatAaagtcgccgatgggaaaatg	10	13	11	7	3	3	0	2	0	1	0	5	2	3	1	1	2	0	1	1	2	4	3	rs777978468		C3L-01924_TP	C3L-01924_NB	A	A																c.904T>A	p.Tyr302Asn	p.Y302N	ENST00000436318	3/4	112	103	9	155	155	0	strelka-varscan-mutect	MUC15,missense_variant,p.Tyr275Asn,ENST00000455601,NM_145650.3;MUC15,missense_variant,p.Tyr302Asn,ENST00000436318,;MUC15,missense_variant,p.Tyr302Asn,ENST00000529533,NM_001135091.1;ANO3,intron_variant,,ENST00000256737,NM_031418.2;ANO3,intron_variant,,ENST00000525139,;ANO3,intron_variant,,ENST00000531568,;MUC15,intron_variant,,ENST00000281268,;MUC15,intron_variant,,ENST00000527569,NM_001135092.1;ANO3,non_coding_transcript_exon_variant,,ENST00000529242,;	T	ENST00000436318	Transcript	missense_variant	904/3118	904/1086	302/361	Y/N	Tat/Aat	rs777978468	1		-1	MUC15	HGNC	HGNC:14956	protein_coding	YES	CCDS44557.1	ENSP00000416753		A0A0A0MT67	UPI0000D4B9CF		deleterious(0)		3/4		hmmpanther:PTHR12231,Pfam_domain:PF15672																	MODERATE		SNV	5			1										PASS		rs777978468	.												T	3	4	29	26563137	26563137	A	T	1	0	0	0	0	1	0	0	0	9971	362	13	4		4	MUC15	11	26563137	Missense_Mutation	SNP	A	C3L-01924_TP	7819024	26563137	108523485	365	8680											
RAG2	0	.	GRCh38	chr11	36592731	36592731	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctatctccacatgctCattgcagtaatacttgttgc	8	16	6	11	0	3	0	1	0	2	0	4	0	3	0	1	0	5	5	1	0	3	7			C3L-01924_TP	C3L-01924_NB	C	C																c.1438G>T	p.Glu480Ter	p.E480*	ENST00000618712	3/3	389	342	47	479	477	2	strelka-varscan-mutect	RAG2,stop_gained,p.Glu480Ter,ENST00000618712,NM_001243785.1,NM_001243786.1;RAG2,stop_gained,p.Glu480Ter,ENST00000311485,NM_000536.3;C11orf74,upstream_gene_variant,,ENST00000446510,NM_001276723.1,NM_001276722.1;C11orf74,upstream_gene_variant,,ENST00000617650,NM_001276724.1;C11orf74,upstream_gene_variant,,ENST00000532470,;C11orf74,upstream_gene_variant,,ENST00000334307,NM_138787.3;C11orf74,upstream_gene_variant,,ENST00000534635,NM_001276725.1;C11orf74,upstream_gene_variant,,ENST00000531554,;C11orf74,upstream_gene_variant,,ENST00000347206,NM_001276727.1,NM_001276726.1;C11orf74,upstream_gene_variant,,ENST00000530697,;RAG2,downstream_gene_variant,,ENST00000529083,;RAG2,downstream_gene_variant,,ENST00000527033,;RAG2,downstream_gene_variant,,ENST00000532616,;C11orf74,upstream_gene_variant,,ENST00000527108,;RAG2,intron_variant,,ENST00000524423,;RAG2,downstream_gene_variant,,ENST00000528428,;RAG2,downstream_gene_variant,,ENST00000534379,;RAG2,downstream_gene_variant,,ENST00000530276,;RAG1,intron_variant,,ENST00000534663,;C11orf74,upstream_gene_variant,,ENST00000528092,;C11orf74,upstream_gene_variant,,ENST00000524539,;	A	ENST00000618712	Transcript	stop_gained	2032/2818	1438/1584	480/527	E/*	Gag/Tag	CM114604,COSM687405	1		-1	RAG2	HGNC	HGNC:9832	protein_coding	YES	CCDS7903.1	ENSP00000478672	P55895		UPI00001330E9	NM_001243785.1,NM_001243786.1			3/3		Pfam_domain:PF13341,hmmpanther:PTHR10960,hmmpanther:PTHR10960:SF0,Superfamily_domains:SSF57903											0,1						HIGH	1	SNV	4		1,1	1										PASS		.	.												A	4	1	29	36592731	36592731	C	A	1	0	0	0	0	0	1	0	0	13165	835	29	2		2	RAG2	11	36592731	Nonsense_Mutation	SNP	C	C3L-01924_TP	10029594	36592731	98493891	366	8681											
LRRC4C	0	.	GRCh38	chr11	40115515	40115515	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggttgtcaaaggcattccGttcaatcacttgaatctggg	11	12	10	8	1	4	1	3	1	1	0	5	1	5	1	1	3	0	3	1	3	4	4	rs765406670		C3L-01924_TP	C3L-01924_NB	G	G																c.778C>A	p.=	p.R260R	ENST00000278198	2/2	233	166	67	310	310	0	strelka-varscan-mutect	LRRC4C,synonymous_variant,p.=,ENST00000278198,;LRRC4C,synonymous_variant,p.=,ENST00000527150,;LRRC4C,synonymous_variant,p.=,ENST00000530763,NM_020929.2;LRRC4C,synonymous_variant,p.=,ENST00000528697,NM_001258419.1;LRRC4C,synonymous_variant,p.=,ENST00000619527,;LRRC4C,downstream_gene_variant,,ENST00000533474,;RP11-454H19.2,upstream_gene_variant,,ENST00000624239,;	T	ENST00000278198	Transcript	synonymous_variant	2742/4054	778/1923	260/640	R	Cgg/Agg	rs765406670,COSM3764301,COSM5263339	1		-1	LRRC4C	HGNC	HGNC:29317	protein_coding	YES	CCDS31464.1	ENSP00000278198	Q9HCJ2		UPI000000D9A7				2/2		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF8,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs765406670	.												T	2	4	29	40115515	40115515	G	T	1	0	0	0	0	0	0	0	1	8903	1144	40	1		1	LRRC4C	11	40115515	Silent	SNP	G	C3L-01924_TP	3522784	40115515	94971107	367	8682											
CHRM4	0	.	GRCh38	chr11	46386076	46386076	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggcgcccagagcacgAaggacagtacccaggcagca	12	2	14	13	2	0	1	0	0	0	1	0	3	0	2	2	4	3	5	2	4	2	1	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.482T>A	p.Phe161Tyr	p.F161Y	ENST00000433765	1/1	269	231	38	336	336	0	strelka-varscan-mutect	CHRM4,missense_variant,p.Phe161Tyr,ENST00000433765,NM_000741.3;MDK,downstream_gene_variant,,ENST00000405308,NM_001270550.1;MDK,downstream_gene_variant,,ENST00000407067,NM_001270551.1;MDK,downstream_gene_variant,,ENST00000359803,NM_001012334.2;MDK,downstream_gene_variant,,ENST00000395565,NM_001012333.2;MDK,downstream_gene_variant,,ENST00000395566,NM_002391.4;MDK,downstream_gene_variant,,ENST00000395569,NM_001270552.1;MDK,downstream_gene_variant,,ENST00000617138,;MDK,downstream_gene_variant,,ENST00000441869,;MDK,downstream_gene_variant,,ENST00000533952,;MDK,downstream_gene_variant,,ENST00000533283,;MDK,downstream_gene_variant,,ENST00000489525,;MDK,downstream_gene_variant,,ENST00000481047,;MDK,downstream_gene_variant,,ENST00000490240,;	T	ENST00000433765	Transcript	missense_variant	533/1511	482/1440	161/479	F/Y	tTc/tAc		1		-1	CHRM4	HGNC	HGNC:1953	protein_coding	YES	CCDS44581.1	ENSP00000409378	P08173		UPI00001252BB	NM_000741.3	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF60,hmmpanther:PTHR24249,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE		SNV				1										PASS		.	.												T	3	4	29	46386076	46386076	A	T	1	0	0	0	0	1	0	0	0	3139	246	9	4		4	CHRM4	11	46386076	Missense_Mutation	SNP	A	C3L-01924_TP	6270561	46386076	88700546	368	8683											
CKAP5	0	.	GRCh38	chr11	46753457	46753457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcattaggtcttttagtactCcagtggaggcctcccgggca	7	11	12	11	1	1	0	0	0	1	0	3	1	3	1	3	4	1	3	3	4	3	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.4910G>T	p.Gly1637Val	p.G1637V	ENST00000529230	37/44	138	128	10	124	124	0	strelka-varscan-mutect	CKAP5,missense_variant,p.Gly1637Val,ENST00000529230,NM_001008938.3;CKAP5,missense_variant,p.Gly1577Val,ENST00000312055,NM_014756.3;CKAP5,missense_variant,p.Gly1577Val,ENST00000354558,;CKAP5,missense_variant,p.Gly166Val,ENST00000527333,;CKAP5,upstream_gene_variant,,ENST00000525896,;CKAP5,downstream_gene_variant,,ENST00000526876,;MIR5582,upstream_gene_variant,,ENST00000579697,;CKAP5,non_coding_transcript_exon_variant,,ENST00000533413,;	A	ENST00000529230	Transcript	missense_variant	4957/7121	4910/6099	1637/2032	G/V	gGa/gTa		1		-1	CKAP5	HGNC	HGNC:28959	protein_coding	YES	CCDS31477.1	ENSP00000432768	Q14008		UPI000013F21E	NM_001008938.3	tolerated(0.18)		37/44		hmmpanther:PTHR12609:SF0,hmmpanther:PTHR12609																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	46753457	46753457	C	A	1	0	0	0	0	1	0	0	0	3208	855	30	2		2	CKAP5	11	46753457	Missense_Mutation	SNP	C	C3L-01924_TP	367381	46753457	88333165	369	8684											
AGBL2	0	.	GRCh38	chr11	47686017	47686017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtggccatggaaatcaCaatacaacagaacctctctt	14	9	7	11	0	2	1	1	0	1	1	3	3	2	2	2	2	3	0	2	2	5	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1664G>T	p.Cys555Phe	p.C555F	ENST00000525123	11/19	247	189	58	265	265	0	strelka-varscan-mutect	AGBL2,missense_variant,p.Cys555Phe,ENST00000525123,NM_024783.3;AGBL2,missense_variant,p.Cys555Phe,ENST00000357610,;AGBL2,missense_variant,p.Cys517Phe,ENST00000528244,;AGBL2,downstream_gene_variant,,ENST00000532595,;AGBL2,non_coding_transcript_exon_variant,,ENST00000529712,;AGBL2,intron_variant,,ENST00000528609,;	A	ENST00000525123	Transcript	missense_variant	1950/3577	1664/2709	555/902	C/F	tGt/tTt		1		-1	AGBL2	HGNC	HGNC:26296	protein_coding	YES	CCDS7944.1	ENSP00000435582	Q5U5Z8	A0A140VKH9	UPI00001A95E3	NM_024783.3	deleterious(0)		11/19		Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF19,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		rs1296611340	.												A	3	1	29	47686017	47686017	C	A	1	0	0	0	0	1	0	0	0	452	478	17	2		2	AGBL2	11	47686017	Missense_Mutation	SNP	C	C3L-01924_TP	932560	47686017	87400605	370	8685											
OR4B1	0	.	GRCh38	chr11	48216868	48216868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccttttccaggatccagCtgtgcagagtgtatgctttg	6	14	12	9	0	0	1	0	0	0	1	2	2	2	2	3	2	3	4	3	2	1	4	rs758861637		C3L-01924_TP	C3L-01924_NB	C	C																c.59C>A	p.Ala20Asp	p.A20D	ENST00000309562	1/1	151	120	31	215	215	0	strelka-varscan-mutect	OR4B1,missense_variant,p.Ala20Asp,ENST00000309562,NM_001005470.1;	A	ENST00000309562	Transcript	missense_variant	77/971	59/930	20/309	A/D	gCt/gAt	rs758861637,COSM1508129,COSM4033330	1		1	OR4B1	HGNC	HGNC:8290	protein_coding	YES	CCDS31485.1	ENSP00000311605	Q8NGF8	A0A126GVH6	UPI0000041BD9	NM_001005470.1	tolerated(0.24)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF377,Superfamily_domains:SSF81321											0,1,1						MODERATE	1	SNV			0,1,1	1										PASS		rs758861637	.												A	3	1	29	48216868	48216868	C	A	1	0	0	0	0	1	0	0	0	11121	797	28	2		2	OR4B1	11	48216868	Missense_Mutation	SNP	C	C3L-01924_TP	530851	48216868	86869754	371	8686											
TRIM49B	0	.	GRCh38	chr11	49031814	49031814	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccaacattcatttcaagaAgatggcttctcttgctagaa	14	12	6	9	0	3	3	2	0	1	3	4	3	3	3	1	1	3	2	1	1	6	5	rs746889281		C3L-01924_TP	C3L-01924_NB	A	A																c.215A>C	p.Lys72Thr	p.K72T	ENST00000622138	3/8	312	295	17	464	464	0	varscan-mutect	TRIM49B,missense_variant,p.Lys72Thr,ENST00000622138,;TRIM49B,missense_variant,p.Lys72Thr,ENST00000332682,NM_001206626.1;	C	ENST00000622138	Transcript	missense_variant	544/2162	215/1359	72/452	K/T	aAg/aCg	rs746889281	1		1	TRIM49B	HGNC	HGNC:42955	protein_coding	YES	CCDS55762.1	ENSP00000481457	A6NDI0		UPI000013EEA1		tolerated(0.29)		3/8		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,Gene3D:3.30.40.10,Superfamily_domains:SSF57850																	MODERATE	1	SNV	5			1										PASS		rs746889281	.												C	3	2	29	49031814	49031814	A	C	1	0	0	0	0	1	0	0	0	17015	72	3	5		5	TRIM49B	11	49031814	Missense_Mutation	SNP	A	C3L-01924_TP	814946	49031814	86054808	372	8687											
OR5D16	0	.	GRCh38	chr11	55839062	55839062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatgtttggtgcaattctTtttcttttgcacctttgtag	6	20	9	6	0	2	0	0	0	2	0	2	1	2	1	1	2	2	4	1	2	2	8	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.311T>C	p.Phe104Ser	p.F104S	ENST00000378396	1/1	306	284	22	369	369	0	strelka-varscan-mutect	OR5D16,missense_variant,p.Phe104Ser,ENST00000378396,NM_001005496.1;	C	ENST00000378396	Transcript	missense_variant	311/987	311/987	104/328	F/S	tTt/tCt		1		1	OR5D16	HGNC	HGNC:15283	protein_coding	YES	CCDS31512.1	ENSP00000367649	Q8NGK9		UPI0000046198	NM_001005496.1	tolerated(0.1)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF243,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	29	55839062	55839062	T	C	1	0	0	0	0	1	0	0	0	11226	1841	64	5		5	OR5D16	11	55839062	Missense_Mutation	SNP	T	C3L-01924_TP	6807248	55839062	79247560	373	8688											
OR8I2	0	.	GRCh38	chr11	56093963	56093963	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacagtcacttatatcaTcatcatctcagccatcctga	12	12	3	14	0	6	1	6	1	1	0	8	1	7	1	2	0	1	0	2	0	2	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.656T>G	p.Ile219Ser	p.I219S	ENST00000302124	1/1	184	165	19	227	226	1	strelka-varscan-mutect	OR8I2,missense_variant,p.Ile219Ser,ENST00000302124,NM_001003750.1;OR8I4P,downstream_gene_variant,,ENST00000526965,;	G	ENST00000302124	Transcript	missense_variant	656/933	656/933	219/310	I/S	aTc/aGc		1		1	OR8I2	HGNC	HGNC:15310	protein_coding	YES	CCDS31517.1	ENSP00000303864	Q8N0Y5		UPI0000041D16	NM_001003750.1	tolerated(0.86)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	29	56093963	56093963	T	G	1	0	0	0	0	1	0	0	0	11308	1435	50	5		5	OR8I2	11	56093963	Missense_Mutation	SNP	T	C3L-01924_TP	254901	56093963	78992659	374	8689											
OR8K5	0	.	GRCh38	chr11	56160298	56160298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgaattcagttagcactGttagattgtgttggcccatt	10	15	10	6	0	1	2	1	1	0	1	1	3	1	2	1	1	1	4	1	1	4	6	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.20C>T	p.Thr7Ile	p.T7I	ENST00000313447	1/1	82	66	16	106	106	0	strelka-varscan-mutect	OR8K5,missense_variant,p.Thr7Ile,ENST00000313447,NM_001004058.2;	A	ENST00000313447	Transcript	missense_variant	20/924	20/924	7/307	T/I	aCa/aTa		1		-1	OR8K5	HGNC	HGNC:15315	protein_coding	YES	CCDS31521.1	ENSP00000323853	Q8NH50		UPI000004B231	NM_001004058.2	deleterious_low_confidence(0)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF60,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	29	56160298	56160298	G	A	1	0	0	0	0	1	0	0	0	11312	1377	48	3		3	OR8K5	11	56160298	Missense_Mutation	SNP	G	C3L-01924_TP	66335	56160298	78926324	375	8690											
OR5T3	0	.	GRCh38	chr11	56252980	56252980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccattctgaagatgcattctGctaagggaaggcaaaaggcc	13	8	11	9	0	2	2	0	1	2	1	2	3	2	3	2	3	2	3	2	3	5	3			C3L-01924_TP	C3L-01924_NB	G	G																c.781G>A	p.Ala261Thr	p.A261T	ENST00000303059	1/1	204	160	44	237	237	0	strelka-varscan-mutect	OR5T3,missense_variant,p.Ala261Thr,ENST00000303059,NM_001004747.1;	A	ENST00000303059	Transcript	missense_variant	781/1023	781/1023	261/340	A/T	Gct/Act	COSM5250430,COSM543194	1		1	OR5T3	HGNC	HGNC:15297	protein_coding	YES	CCDS31524.1	ENSP00000305403	Q8NGG3		UPI0000061E96	NM_001004747.1	tolerated(0.1)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87,Superfamily_domains:SSF81321											1,1						MODERATE	1	SNV			1,1	1										PASS		.	.												A	3	1	29	56252980	56252980	G	A	1	0	0	0	0	1	0	0	0	11251	1319	46	3		3	OR5T3	11	56252980	Missense_Mutation	SNP	G	C3L-01924_TP	92682	56252980	78833642	376	8691											
OR5M8	0	.	GRCh38	chr11	56491342	56491342	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcccaggagaatgaacTcagtcaccaacgtgcagttt	12	9	9	11	1	3	2	3	1	0	1	4	3	4	2	2	1	3	2	2	1	3	1	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.29A>C	p.Glu10Ala	p.E10A	ENST00000327216	1/1	61	55	6	60	60	0	strelka-varscan-mutect	OR5M8,missense_variant,p.Glu10Ala,ENST00000327216,NM_001005282.1;CTD-3051L14.13,upstream_gene_variant,,ENST00000525853,;	G	ENST00000327216	Transcript	missense_variant	29/936	29/936	10/311	E/A	gAg/gCg		1		-1	OR5M8	HGNC	HGNC:14846	protein_coding	YES	CCDS31533.1	ENSP00000323354	Q8NGP6	A0A126GWD6	UPI00000405CC	NM_001005282.1	deleterious(0)		1/1		hmmpanther:PTHR26452:SF146,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	29	56491342	56491342	T	G	1	0	0	0	0	1	0	0	0	11245	1551	54	5		5	OR5M8	11	56491342	Missense_Mutation	SNP	T	C3L-01924_TP	238362	56491342	78595280	377	8692											
OR5AP2	0	.	GRCh38	chr11	56642178	56642178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagccatgaggttcaccaGcatcttgggagtgacggaag	10	8	13	10	1	3	2	2	2	1	0	3	4	3	4	2	3	2	2	2	3	1	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.262C>A	p.Leu88Met	p.L88M	ENST00000302981	1/1	308	238	70	397	397	0	strelka-varscan-mutect	OR5AP2,missense_variant,p.Leu89Met,ENST00000544374,;OR5AP2,missense_variant,p.Leu88Met,ENST00000302981,NM_001002925.1;	T	ENST00000302981	Transcript	missense_variant	262/951	262/951	88/316	L/M	Ctg/Atg		1		-1	OR5AP2	HGNC	HGNC:15258	protein_coding	YES	CCDS31534.1	ENSP00000303111	Q8NGF4		UPI0000061EE6	NM_001002925.1	tolerated(0.07)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF151,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	29	56642178	56642178	G	T	1	0	0	0	0	1	0	0	0	11216	962	34	2		2	OR5AP2	11	56642178	Missense_Mutation	SNP	G	C3L-01924_TP	150836	56642178	78444444	378	8693											
OR10Q1	0	.	GRCh38	chr11	58228478	58228478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagggtgtagtgcagcGggtggcagatagccacatag	10	8	17	6	1	0	3	0	2	0	1	0	3	0	3	1	3	3	3	1	3	3	3			C3L-01924_TP	C3L-01924_NB	G	G																c.398C>A	p.Pro133Gln	p.P133Q	ENST00000316770	1/1	179	157	22	242	242	0	strelka-varscan-mutect	OR10Q1,missense_variant,p.Pro133Gln,ENST00000316770,NM_001004471.2;	T	ENST00000316770	Transcript	missense_variant	441/1037	398/960	133/319	P/Q	cCg/cAg	COSM1676039	1		-1	OR10Q1	HGNC	HGNC:15134	protein_coding	YES	CCDS31547.1	ENSP00000314324	Q8NGQ4		UPI0000041C4C	NM_001004471.2	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF253,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		rs775674520	.												T	3	4	29	58228478	58228478	G	T	1	0	0	0	0	1	0	0	0	10993	1116	39	1		1	OR10Q1	11	58228478	Missense_Mutation	SNP	G	C3L-01924_TP	1586300	58228478	76858144	379	8694											
OR5AN1	0	.	GRCh38	chr11	59365158	59365158	+	Frame_Shift_Del	DEL	G	G	-																															tgaagatcacttcagctaaaGgcaggtccaaggcattcaac																								novel		C3L-01924_TP	C3L-01924_NB	G	G																c.701delG	p.Gly234AlafsTer13	p.G234Afs*13	ENST00000313940	1/1	103	81	22	170	170	0	sindel-varindel-pindel	OR5AN1,frameshift_variant,p.Gly234AlafsTer13,ENST00000313940,NM_001004729.1;	-	ENST00000313940	Transcript	frameshift_variant	747/1037	700/936	234/311	G/X	Ggc/gc		1		1	OR5AN1	HGNC	HGNC:15255	protein_coding	YES	CCDS31559.1	ENSP00000320302	Q8NGI8	A0A126GVP9	UPI000004B1FD	NM_001004729.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF262,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	HIGH	1	deletion		1		1										PASS		.	.												-	7	5	29	59365158	59365158	G	-	1	0	1	0	1	0	0	0	0	11215	1000	35	0		0	OR5AN1	11	59365158	Frame_Shift_Del	DEL	G	C3L-01924_TP	1136680	59365158	75721464	380	8695											
VWCE	0	.	GRCh38	chr11	61281109	61281109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggctgggggccctggagccCcagaaggagggctatgtcct	6	6	17	12	1	0	1	0	0	0	1	1	3	1	3	4	6	1	2	4	6	2	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.914G>A	p.Gly305Glu	p.G305E	ENST00000335613	8/20	112	81	31	136	136	0	strelka-varscan-mutect	VWCE,missense_variant,p.Gly305Glu,ENST00000335613,NM_152718.2;VWCE,missense_variant,p.Gly22Glu,ENST00000613271,;VWCE,3_prime_UTR_variant,,ENST00000301770,;VWCE,downstream_gene_variant,,ENST00000535599,;	T	ENST00000335613	Transcript	missense_variant	1301/3640	914/2868	305/955	G/E	gGg/gAg		1		-1	VWCE	HGNC	HGNC:26487	protein_coding	YES	CCDS8002.1	ENSP00000334186	Q96DN2		UPI000013E751	NM_152718.2	deleterious(0.03)		8/20		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	61281109	61281109	C	T	1	0	0	0	0	1	0	0	0	17804	623	22	3		3	VWCE	11	61281109	Missense_Mutation	SNP	C	C3L-01924_TP	1915951	61281109	73805513	381	8696											
CARNS1	0	.	GRCh38	chr11	67424314	67424314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccacccgcccacgtgctCgtggccatctggtgggcgtc	3	8	13	17	4	1	0	0	0	1	0	3	0	1	0	4	3	2	1	4	3	0	0	rs754430149		C3L-01924_TP	C3L-01924_NB	C	C																c.2566C>T	p.Arg856Cys	p.R856C	ENST00000445895	9/9	224	192	32	273	272	1	strelka-varscan-mutect	CARNS1,missense_variant,p.Arg856Cys,ENST00000445895,NM_001166222.1;CARNS1,missense_variant,p.Arg733Cys,ENST00000307823,NM_020811.1;CARNS1,missense_variant,p.Arg830Cys,ENST00000531040,;RPS6KB2,upstream_gene_variant,,ENST00000312629,NM_003952.2;PPP1CA,upstream_gene_variant,,ENST00000542876,;PPP1CA,upstream_gene_variant,,ENST00000546202,;RPS6KB2,upstream_gene_variant,,ENST00000524934,;RPS6KB2,upstream_gene_variant,,ENST00000420069,;RPS6KB2,upstream_gene_variant,,ENST00000524814,;CARNS1,non_coding_transcript_exon_variant,,ENST00000531388,;CARNS1,intron_variant,,ENST00000531958,;RPS6KB2,upstream_gene_variant,,ENST00000525088,;RPS6KB2,upstream_gene_variant,,ENST00000528964,;RPS6KB2,upstream_gene_variant,,ENST00000556575,;RPS6KB2,upstream_gene_variant,,ENST00000530623,;	T	ENST00000445895	Transcript	missense_variant	2680/3971	2566/2853	856/950	R/C	Cgt/Tgt	rs754430149,COSM2041827,COSM2041828	1		1	CARNS1	HGNC	HGNC:29268	protein_coding	YES	CCDS53667.1	ENSP00000389009	A5YM72		UPI0001B99E02	NM_001166222.1	deleterious(0)		9/9		Low_complexity_(Seg):seg,hmmpanther:PTHR10578,hmmpanther:PTHR10578:SF57,Gene3D:3.30.470.20											0,1,1						MODERATE		SNV	5		0,1,1	1										PASS		rs754430149	.												T	3	4	29	67424314	67424314	C	T	1	0	0	0	0	1	0	0	0	2355	884	31	1		1	CARNS1	11	67424314	Missense_Mutation	SNP	C	C3L-01924_TP	6143205	67424314	67662308	382	8697											
C11orf24	0	.	GRCh38	chr11	68261769	68261769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgatgaaaagggtcaccCcgagtaacagcaccaccaga	14	5	10	12	1	1	3	1	2	0	1	1	4	1	3	4	1	2	2	4	1	3	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1226G>T	p.Gly409Val	p.G409V	ENST00000304271	4/4	238	184	54	281	281	0	strelka-varscan-mutect	C11orf24,missense_variant,p.Gly409Val,ENST00000304271,NM_022338.3;C11orf24,intron_variant,,ENST00000533310,NM_001300913.1;C11orf24,downstream_gene_variant,,ENST00000527280,;C11orf24,non_coding_transcript_exon_variant,,ENST00000531745,;C11orf24,downstream_gene_variant,,ENST00000530166,;	A	ENST00000304271	Transcript	missense_variant	1629/2063	1226/1350	409/449	G/V	gGg/gTg		1		-1	C11orf24	HGNC	HGNC:1174	protein_coding	YES	CCDS8180.1	ENSP00000307264	Q96F05	A0A024R5K9	UPI000006E42A	NM_022338.3	deleterious(0)		4/4		hmmpanther:PTHR16021,hmmpanther:PTHR16021:SF9,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	68261769	68261769	C	A	1	0	0	0	0	1	0	0	0	1779	623	22	2		2	C11orf24	11	68261769	Missense_Mutation	SNP	C	C3L-01924_TP	837455	68261769	66824853	383	8698											
TESMIN	0	.	GRCh38	chr11	68715842	68715842	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacatttattaccttaaTggctttaaaccgttcaatat	13	16	5	7	1	1	0	1	0	0	0	1	1	1	1	2	2	2	2	2	2	7	8	rs763444744		C3L-01924_TP	C3L-01924_NB	T	T																c.1015A>G	p.Ile339Val	p.I339V	ENST00000255087	7/10	110	103	7	169	169	0	strelka-varscan-mutect	TESMIN,missense_variant,p.Ile339Val,ENST00000255087,NM_004923.3;TESMIN,missense_variant,p.Ile32Val,ENST00000543240,;	C	ENST00000255087	Transcript	missense_variant	1199/2579	1015/1527	339/508	I/V	Att/Gtt	rs763444744	1		-1	TESMIN	HGNC	HGNC:7446	protein_coding	YES	CCDS8184.1	ENSP00000255087	Q9Y4I5		UPI00001FAE07	NM_004923.3	tolerated(0.09)		7/10		PROSITE_profiles:PS51634,hmmpanther:PTHR12446:SF22,hmmpanther:PTHR12446																	MODERATE	1	SNV	1			1										PASS		rs763444744	.												C	3	2	29	68715842	68715842	T	C	1	0	0	0	0	1	0	0	0	16188	1478	51	5		5	TESMIN	11	68715842	Missense_Mutation	SNP	T	C3L-01924_TP	454073	68715842	66370780	384	8699											
PRCP	0	.	GRCh38	chr11	82850417	82850417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgacaggttgattttcagctCctgggattgttcttttcaag	7	17	10	7	0	3	2	2	2	1	0	4	3	4	3	1	2	1	3	1	2	1	7	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.563G>C	p.Gly188Ala	p.G188A	ENST00000393399	5/10	132	119	13	123	123	0	strelka-varscan-mutect	PRCP,missense_variant,p.Gly167Ala,ENST00000313010,NM_005040.2;PRCP,missense_variant,p.Gly188Ala,ENST00000393399,NM_199418.2;PRCP,missense_variant,p.Gly62Ala,ENST00000531801,;PRCP,missense_variant,p.Gly62Ala,ENST00000527444,;PRCP,missense_variant,p.Gly62Ala,ENST00000534631,;PRCP,missense_variant,p.Gly62Ala,ENST00000534396,;PRCP,missense_variant,p.Gly126Ala,ENST00000529671,;PRCP,missense_variant,p.Gly62Ala,ENST00000531128,;PRCP,missense_variant,p.Gly113Ala,ENST00000532809,;PRCP,missense_variant,p.Gly62Ala,ENST00000528082,;PRCP,downstream_gene_variant,,ENST00000534264,;PRCP,downstream_gene_variant,,ENST00000533126,;PRCP,upstream_gene_variant,,ENST00000525772,;PRCP,upstream_gene_variant,,ENST00000532476,;PRCP,upstream_gene_variant,,ENST00000531283,;PRCP,upstream_gene_variant,,ENST00000526918,;PRCP,upstream_gene_variant,,ENST00000524642,;	G	ENST00000393399	Transcript	missense_variant	591/2120	563/1554	188/517	G/A	gGa/gCa		1		-1	PRCP	HGNC	HGNC:9344	protein_coding	YES	CCDS41695.1	ENSP00000377055	P42785		UPI00001FB052	NM_199418.2	tolerated(0.05)		5/10		hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF38,Pfam_domain:PF05577,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	29	82850417	82850417	C	G	1	0	0	0	0	1	0	0	0	12580	855	30	4		4	PRCP	11	82850417	Missense_Mutation	SNP	C	C3L-01924_TP	14134575	82850417	52236205	385	8700											
NOX4	0	.	GRCh38	chr11	89342136	89342136	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccagccacgcagaggctGacctcatagttcagtgattc	9	9	9	14	1	2	3	2	2	0	1	4	3	3	3	4	1	1	3	4	1	1	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1275C>T	p.=	p.V425V	ENST00000263317	14/18	131	122	9	145	145	0	varscan-mutect	NOX4,synonymous_variant,p.=,ENST00000424319,NM_001291926.1;NOX4,synonymous_variant,p.=,ENST00000343727,NM_001291927.1;NOX4,synonymous_variant,p.=,ENST00000263317,NM_016931.4;NOX4,synonymous_variant,p.=,ENST00000527956,NM_001143837.1;NOX4,synonymous_variant,p.=,ENST00000528341,NM_001291929.1;NOX4,synonymous_variant,p.=,ENST00000527626,;NOX4,synonymous_variant,p.=,ENST00000375979,;NOX4,intron_variant,,ENST00000534731,NM_001143836.2;NOX4,intron_variant,,ENST00000532825,NM_001300995.1;NOX4,intron_variant,,ENST00000525196,;NOX4,intron_variant,,ENST00000531342,;NOX4,3_prime_UTR_variant,,ENST00000529343,;	A	ENST00000263317	Transcript	synonymous_variant	1514/2388	1275/1737	425/578	V	gtC/gtT		1		-1	NOX4	HGNC	HGNC:7891	protein_coding	YES	CCDS8285.1	ENSP00000263317	Q9NPH5		UPI000045655B	NM_016931.4			14/18		Pfam_domain:PF08030,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF78,Superfamily_domains:SSF52343																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	29	89342136	89342136	G	A	1	0	0	0	0	0	0	0	1	10604	1277	45	3		3	NOX4	11	89342136	Silent	SNP	G	C3L-01924_TP	6491719	89342136	45744486	386	8701											
ENDOD1	0	.	GRCh38	chr11	95128579	95128579	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcagccccaatgactcAgtccttccaggaacggtggt	11	9	9	12	1	2	1	2	1	0	0	4	2	4	2	4	3	2	0	4	3	3	2	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.503A>T	p.Gln168Leu	p.Q168L	ENST00000278505	2/2	177	124	53	185	185	0	strelka-varscan-mutect	ENDOD1,missense_variant,p.Gln168Leu,ENST00000278505,NM_015036.2;	T	ENST00000278505	Transcript	missense_variant	621/4687	503/1503	168/500	Q/L	cAg/cTg		1		1	ENDOD1	HGNC	HGNC:29129	protein_coding	YES	CCDS41699.1	ENSP00000278505	O94919		UPI0000071599	NM_015036.2	tolerated(0.08)		2/2		hmmpanther:PTHR21472,hmmpanther:PTHR21472:SF8,Gene3D:1g8tA00,Pfam_domain:PF01223,SMART_domains:SM00477,SMART_domains:SM00892,Superfamily_domains:SSF54060																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	95128579	95128579	A	T	1	0	0	0	0	1	0	0	0	4956	188	7	4		4	ENDOD1	11	95128579	Missense_Mutation	SNP	A	C3L-01924_TP	5786443	95128579	39958043	387	8702											
PGR	0	.	GRCh38	chr11	101039152	101039152	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggggtttcaccatcccTgccaatatcttgggtaattg	10	12	10	9	0	2	1	1	0	1	1	3	1	3	1	3	3	1	2	3	3	4	5	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.2766A>T	p.=	p.A922A	ENST00000325455	8/8	296	245	51	312	312	0	strelka-varscan-mutect	PGR,synonymous_variant,p.=,ENST00000325455,NM_000926.4,NM_001202474.3;PGR,synonymous_variant,p.=,ENST00000263463,NM_001271161.2;PGR,synonymous_variant,p.=,ENST00000534013,NM_001271162.1;PGR,3_prime_UTR_variant,,ENST00000534780,;PGR,3_prime_UTR_variant,,ENST00000528960,;PGR,3_prime_UTR_variant,,ENST00000526300,;PGR,non_coding_transcript_exon_variant,,ENST00000533207,;PGR,downstream_gene_variant,,ENST00000530764,;	A	ENST00000325455	Transcript	synonymous_variant	4220/13748	2766/2802	922/933	A	gcA/gcT		1		-1	PGR	HGNC	HGNC:8910	protein_coding	YES	CCDS8310.1	ENSP00000325120	P06401		UPI0000046E22	NM_000926.4,NM_001202474.3			8/8		hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF7																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	29	101039152	101039152	T	A	1	0	0	0	0	0	0	0	1	11894	1567	55	4		4	PGR	11	101039152	Silent	SNP	T	C3L-01924_TP	5910573	101039152	34047470	388	8703											
GRIA4	0	.	GRCh38	chr11	105979580	105979580	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatgcaacccagctgacCttttctgaagccataagaaa	13	10	6	12	0	1	3	0	2	1	1	2	3	2	3	4	0	4	2	4	0	4	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2550C>A	p.=	p.T850T	ENST00000282499	17/17	114	95	19	112	111	1	strelka-varscan-mutect	GRIA4,synonymous_variant,p.=,ENST00000282499,NM_000829.3;GRIA4,synonymous_variant,p.=,ENST00000530497,;GRIA4,3_prime_UTR_variant,,ENST00000393127,NM_001077243.2;GRIA4,3_prime_UTR_variant,,ENST00000525187,;RNU6-277P,upstream_gene_variant,,ENST00000516272,;GRIA4,non_coding_transcript_exon_variant,,ENST00000533094,;	A	ENST00000282499	Transcript	synonymous_variant	2996/5508	2550/2709	850/902	T	acC/acA		1		1	GRIA4	HGNC	HGNC:4574	protein_coding	YES	CCDS8333.1	ENSP00000282499	P48058		UPI000013DCE6	NM_000829.3			17/17		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF100																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	29	105979580	105979580	C	A	1	0	0	0	0	0	0	0	1	6650	695	24	2		2	GRIA4	11	105979580	Silent	SNP	C	C3L-01924_TP	4940428	105979580	29107042	389	8704											
CWF19L2	0	.	GRCh38	chr11	107353688	107353688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcagctgctttggagaCaaacatgtcatccagggtgt	9	12	10	10	0	3	1	2	0	1	1	5	2	4	1	1	2	3	2	1	2	1	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1921G>T	p.Val641Phe	p.V641F	ENST00000282251	13/18	261	211	50	349	348	1	strelka-varscan-mutect	CWF19L2,missense_variant,p.Val641Phe,ENST00000282251,NM_152434.2;CWF19L2,missense_variant,p.Val522Phe,ENST00000431778,;CWF19L2,non_coding_transcript_exon_variant,,ENST00000462890,;CWF19L2,intron_variant,,ENST00000532251,;	A	ENST00000282251	Transcript	missense_variant	1949/3278	1921/2685	641/894	V/F	Gtc/Ttc		1		-1	CWF19L2	HGNC	HGNC:26508	protein_coding	YES	CCDS8336.2	ENSP00000282251	Q2TBE0		UPI00005A81B4	NM_152434.2	deleterious(0)		13/18		hmmpanther:PTHR12072,hmmpanther:PTHR12072:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	107353688	107353688	C	A	1	0	0	0	0	1	0	0	0	3882	478	17	2		2	CWF19L2	11	107353688	Missense_Mutation	SNP	C	C3L-01924_TP	1374108	107353688	27732934	390	8705											
PPP2R1B	0	.	GRCh38	chr11	111760881	111760881	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacgctgaacaaaccacaTgcagatgtgcgagaggtgaa	16	5	11	9	2	0	4	0	2	0	2	0	5	0	4	1	1	5	2	1	1	4	0	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.477A>T	p.=	p.A159A	ENST00000311129	4/16	362	280	82	366	366	0	strelka-varscan-mutect	PPP2R1B,synonymous_variant,p.=,ENST00000527614,NM_002716.4;PPP2R1B,synonymous_variant,p.=,ENST00000311129,NM_181699.2;PPP2R1B,synonymous_variant,p.=,ENST00000341980,NM_001177562.1;PPP2R1B,synonymous_variant,p.=,ENST00000426998,NM_181700.1;PPP2R1B,intron_variant,,ENST00000393055,NM_001177563.1;PPP2R1B,downstream_gene_variant,,ENST00000531373,;PPP2R1B,3_prime_UTR_variant,,ENST00000534500,;PPP2R1B,intron_variant,,ENST00000534521,;	A	ENST00000311129	Transcript	synonymous_variant	498/2082	477/2004	159/667	A	gcA/gcT		1		-1	PPP2R1B	HGNC	HGNC:9303	protein_coding	YES	CCDS8348.1	ENSP00000311344	P30154		UPI000006CEE0	NM_181699.2			4/16		Gene3D:1.25.10.10,hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF9,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		rs868994631	.												A	2	1	29	111760881	111760881	T	A	1	0	0	0	0	0	0	0	1	12506	1451	51	4		4	PPP2R1B	11	111760881	Silent	SNP	T	C3L-01924_TP	4407193	111760881	23325741	391	8706											
RNF214	0	.	GRCh38	chr11	117238958	117238958	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgaagagaaatccccAcaaacctccatcctaaagga	15	7	6	13	0	1	2	0	1	1	1	4	4	4	3	5	1	2	1	5	1	5	1	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.465A>G	p.=	p.P155P	ENST00000300650	3/15	298	228	70	296	296	0	strelka-varscan-mutect	RNF214,synonymous_variant,p.=,ENST00000300650,NM_207343.3;RNF214,synonymous_variant,p.=,ENST00000531452,NM_001077239.1;RNF214,intron_variant,,ENST00000530849,;RNF214,intron_variant,,ENST00000531287,NM_001278249.1;RNF214,downstream_gene_variant,,ENST00000534428,;RNF214,non_coding_transcript_exon_variant,,ENST00000529869,;	G	ENST00000300650	Transcript	synonymous_variant	573/2755	465/2112	155/703	P	ccA/ccG		1		1	RNF214	HGNC	HGNC:25335	protein_coding	YES	CCDS41720.1	ENSP00000300650	Q8ND24	A0A024R3D4	UPI00001D7749	NM_207343.3			3/15		hmmpanther:PTHR15727																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	29	117238958	117238958	A	G	1	0	0	0	0	0	0	0	1	13657	146	6	5		5	RNF214	11	117238958	Silent	SNP	A	C3L-01924_TP	5478077	117238958	17847664	392	8707											
OR10G8	0	.	GRCh38	chr11	124030550	124030550	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagtagcacattctcagAgcaaatagacactagggaag	18	6	9	8	0	1	2	1	0	1	2	2	3	1	3	0	1	2	3	0	1	6	4	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.928A>T	p.Ser310Cys	p.S310C	ENST00000431524	1/1	58	44	14	65	65	0	strelka-varscan-mutect	OR10G8,missense_variant,p.Ser310Cys,ENST00000431524,NM_001004464.1;	T	ENST00000431524	Transcript	missense_variant	961/1045	928/936	310/311	S/C	Agc/Tgc		1		1	OR10G8	HGNC	HGNC:14845	protein_coding	YES	CCDS31704.1	ENSP00000389072	Q8NGN5	A0A126GVX3	UPI0000040A8F	NM_001004464.1	tolerated(0.06)		1/1																			MODERATE	1	SNV				1										PASS		.	.												T	3	4	29	124030550	124030550	A	T	1	0	0	0	0	1	0	0	0	10980	304	11	4		4	OR10G8	11	124030550	Missense_Mutation	SNP	A	C3L-01924_TP	6791592	124030550	11056072	393	8708											
ROBO4	0	.	GRCh38	chr11	124894228	124894228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggcagacaggtctactggGctccccagctccagcaccag	9	5	12	15	0	1	1	0	0	1	1	3	2	3	1	4	3	3	4	4	3	1	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1291C>A	p.Pro431Thr	p.P431T	ENST00000306534	8/18	81	69	12	104	104	0	strelka-mutect	ROBO4,missense_variant,p.Pro431Thr,ENST00000306534,NM_019055.5;ROBO4,missense_variant,p.Pro286Thr,ENST00000533054,NM_001301088.1;RP11-664I21.6,downstream_gene_variant,,ENST00000524433,;ROBO4,downstream_gene_variant,,ENST00000526899,;ROBO4,downstream_gene_variant,,ENST00000527279,;ROBO4,downstream_gene_variant,,ENST00000529941,;ROBO4,non_coding_transcript_exon_variant,,ENST00000525182,;ROBO4,upstream_gene_variant,,ENST00000534407,;ROBO4,upstream_gene_variant,,ENST00000532216,;ROBO4,downstream_gene_variant,,ENST00000533337,;ROBO4,downstream_gene_variant,,ENST00000532300,;	T	ENST00000306534	Transcript	missense_variant	1777/4710	1291/3024	431/1007	P/T	Ccc/Acc		1		-1	ROBO4	HGNC	HGNC:17985	protein_coding	YES	CCDS8455.1	ENSP00000304945	Q8WZ75		UPI000004A023	NM_019055.5	deleterious(0.02)		8/18		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	124894228	124894228	G	T	1	0	0	0	0	1	0	0	0	13694	1203	42	2		2	ROBO4	11	124894228	Missense_Mutation	SNP	G	C3L-01924_TP	863678	124894228	10192394	394	8709											
HEPN1	0	.	GRCh38	chr11	124919958	124919958	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaactgttcaataggcggTggcatgggcatgtcctggct	8	11	14	8	1	1	1	1	1	0	0	2	1	2	1	1	5	1	4	1	5	3	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.208T>A	p.Trp70Arg	p.W70R	ENST00000408930	1/1	219	178	41	252	252	0	strelka-varscan-mutect	HEPN1,missense_variant,p.Trp70Arg,ENST00000408930,NM_001037558.2;HEPACAM,3_prime_UTR_variant,,ENST00000298251,NM_152722.4;HEPACAM,downstream_gene_variant,,ENST00000528971,;HEPACAM,downstream_gene_variant,,ENST00000526273,;	A	ENST00000408930	Transcript	missense_variant	715/1434	208/267	70/88	W/R	Tgg/Agg		1		1	HEPN1	HGNC	HGNC:34400	protein_coding	YES	CCDS41729.1	ENSP00000386143	Q6WQI6		UPI0000D6269C	NM_001037558.2	tolerated_low_confidence(0.36)		1/1																			MODERATE		SNV				1										PASS		rs996510629	.												A	3	1	29	124919958	124919958	T	A	1	0	0	0	0	1	0	0	0	6940	1696	59	4		4	HEPN1	11	124919958	Missense_Mutation	SNP	T	C3L-01924_TP	25730	124919958	10166664	395	8710											
FEZ1	0	.	GRCh38	chr11	125460555	125460555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgcatctcctgcaggaGgaccgagtctgcctgggagg	6	8	15	12	1	2	0	0	0	2	0	3	4	2	3	4	4	4	2	4	4	0	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.610C>A	p.Leu204Ile	p.L204I	ENST00000278919	5/10	169	133	36	200	200	0	strelka-varscan-mutect	FEZ1,missense_variant,p.Leu204Ile,ENST00000278919,NM_005103.4;FEZ1,missense_variant,p.Leu137Ile,ENST00000577924,;FEZ1,intron_variant,,ENST00000527350,;FEZ1,non_coding_transcript_exon_variant,,ENST00000392709,;FEZ1,non_coding_transcript_exon_variant,,ENST00000533294,;FEZ1,non_coding_transcript_exon_variant,,ENST00000534022,;FEZ1,upstream_gene_variant,,ENST00000524427,;FEZ1,downstream_gene_variant,,ENST00000532981,;	T	ENST00000278919	Transcript	missense_variant	845/1748	610/1179	204/392	L/I	Ctc/Atc		1		-1	FEZ1	HGNC	HGNC:3659	protein_coding	YES	CCDS31716.1	ENSP00000278919	Q99689		UPI000012A6FE	NM_005103.4	deleterious(0.05)		5/10		hmmpanther:PTHR12394:SF4,hmmpanther:PTHR12394,Pfam_domain:PF07763																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	125460555	125460555	G	T	1	0	0	0	0	1	0	0	0	5686	1000	35	2		2	FEZ1	11	125460555	Missense_Mutation	SNP	G	C3L-01924_TP	540597	125460555	9626067	396	8711											
SLC6A13	0	.	GRCh38	chr12	237249	237249	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagctcccagcgcagggccCccaggtgctggatcccatca	7	5	11	18	1	1	0	1	0	0	0	3	1	3	1	5	3	3	3	5	3	0	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.605G>T	p.Gly202Val	p.G202V	ENST00000343164	6/15	175	131	44	168	167	1	strelka-varscan-mutect	SLC6A13,missense_variant,p.Gly202Val,ENST00000343164,NM_016615.4;SLC6A13,missense_variant,p.Gly110Val,ENST00000445055,NM_001190997.2;SLC6A13,missense_variant,p.Gly110Val,ENST00000546319,;SLC6A13,upstream_gene_variant,,ENST00000542379,;SLC6A13,non_coding_transcript_exon_variant,,ENST00000536842,;SLC6A13,non_coding_transcript_exon_variant,,ENST00000534887,;SLC6A13,downstream_gene_variant,,ENST00000539260,;SLC6A13,downstream_gene_variant,,ENST00000542272,;	A	ENST00000343164	Transcript	missense_variant	658/2185	605/1809	202/602	G/V	gGg/gTg		1		-1	SLC6A13	HGNC	HGNC:11046	protein_coding	YES	CCDS8502.1	ENSP00000339260	Q9NSD5		UPI0000046060	NM_016615.4	deleterious(0.01)		6/15		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF111,Pfam_domain:PF00209,Superfamily_domains:0053687																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	237249	237249	C	A	1	0	0	0	0	1	0	0	0	14959	623	22	2		2	SLC6A13	12	237249	Missense_Mutation	SNP	C	C3L-01924_TP		237249	133038060	397	8712											
STRAP	0	.	GRCh38	chr12	15890619	15890619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtaattatttgttaaccgGgggacaggataaactgttac	13	13	10	5	1	0	0	0	0	0	0	0	2	0	2	1	3	3	3	1	3	7	7	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.353G>T	p.Gly118Val	p.G118V	ENST00000419869	4/10	173	134	39	238	238	0	strelka-varscan-mutect	STRAP,missense_variant,p.Gly118Val,ENST00000419869,NM_007178.3;STRAP,missense_variant,p.Gly131Val,ENST00000025399,;STRAP,3_prime_UTR_variant,,ENST00000541731,;STRAP,upstream_gene_variant,,ENST00000536737,;	T	ENST00000419869	Transcript	missense_variant	666/1866	353/1053	118/350	G/V	gGg/gTg		1		1	STRAP	HGNC	HGNC:30796	protein_coding	YES	CCDS8676.1	ENSP00000392270	Q9Y3F4		UPI0000137C97	NM_007178.3	deleterious(0)		4/10		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19877,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00320																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	15890619	15890619	G	T	1	0	0	0	0	1	0	0	0	15707	1232	43	2		2	STRAP	12	15890619	Missense_Mutation	SNP	G	C3L-01924_TP	15653370	15890619	117384690	398	8713											
ETNK1	0	.	GRCh38	chr12	22673654	22673654	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcaagtcaatcagttTgcattggtaagtttaaatgt	12	17	7	5	0	4	0	4	0	0	0	4	0	4	0	0	1	1	4	0	1	5	7	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1206T>A	p.Phe402Leu	p.F402L	ENST00000266517	6/8	83	72	11	81	81	0	strelka-varscan-mutect	ETNK1,missense_variant,p.Phe402Leu,ENST00000266517,NM_018638.4;ETNK1,missense_variant,p.Phe393Leu,ENST00000538218,;ETNK1,non_coding_transcript_exon_variant,,ENST00000544191,;	A	ENST00000266517	Transcript	missense_variant	1295/7159	1206/1359	402/452	F/L	ttT/ttA		1		1	ETNK1	HGNC	HGNC:24649	protein_coding	YES	CCDS8698.1	ENSP00000266517	Q9HBU6		UPI0000129E2F	NM_018638.4	deleterious(0.05)		6/8		hmmpanther:PTHR22603,hmmpanther:PTHR22603:SF22,Gene3D:3.90.1200.10,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	22673654	22673654	T	A	1	0	0	0	0	1	0	0	0	5136	1809	63	4		4	ETNK1	12	22673654	Missense_Mutation	SNP	T	C3L-01924_TP	6783035	22673654	110601655	399	8714											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3L-01924_TP	C3L-01924_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	271	201	70	368	368	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												A	3	1	29	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	C3L-01924_TP	2571697	25245351	108029958	400	8715											
OVOS2	0	.	GRCh38	chr12	31125515	31125515	+	Missense_Mutation	SNP	C	C	A																															tcagtctgagcagaaggtgcCcagggaataaaggatggaaa																								novel		C3L-01924_TP	C3L-01924_NB	C	C																c.3540G>T	p.Trp1180Cys	p.W1180C	ENST00000632817	27/34	245	219	26	315	315	0	varscan-mutect	OVOS2,missense_variant,p.Trp1180Cys,ENST00000398963,;OVOS2,missense_variant,p.Trp1180Cys,ENST00000632817,;	A	ENST00000632817	Transcript	missense_variant	3540/4299	3540/4299	1180/1432	W/C	tgG/tgT		1		-1	OVOS2	Clone_based_vega_gene		protein_coding	YES		ENSP00000487815		A0A0J9YW53	UPI0001AE6AF7		deleterious(0.01)		27/34		hmmpanther:PTHR11412:SF77,hmmpanther:PTHR11412,Gene3D:1.50.10.20,Pfam_domain:PF07678,Superfamily_domains:SSF48239																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	31125515	31125515	C	A	1	0	0	0	0	1	0	0	0	11399	624	22	2		2	OVOS2	12	31125515	Missense_Mutation	SNP	C	C3L-01924_TP	5880164	31125515	102149794	401	8716	198	2									
OVOS2	0	.	GRCh38	chr12	31125516	31125516	+	Missense_Mutation	SNP	C	C	A																															cagtctgagcagaaggtgccCagggaataaaggatggaaat																								novel		C3L-01924_TP	C3L-01924_NB	C	C																c.3539G>T	p.Trp1180Leu	p.W1180L	ENST00000632817	27/34	245	220	25	313	313	0	varscan-mutect	OVOS2,missense_variant,p.Trp1180Leu,ENST00000398963,;OVOS2,missense_variant,p.Trp1180Leu,ENST00000632817,;	A	ENST00000632817	Transcript	missense_variant	3539/4299	3539/4299	1180/1432	W/L	tGg/tTg		1		-1	OVOS2	Clone_based_vega_gene		protein_coding	YES		ENSP00000487815		A0A0J9YW53	UPI0001AE6AF7		tolerated(0.15)		27/34		hmmpanther:PTHR11412:SF77,hmmpanther:PTHR11412,Gene3D:1.50.10.20,Pfam_domain:PF07678,Superfamily_domains:SSF48239																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	31125516	31125516	C	A	1	0	0	0	0	1	0	0	0	11399	595	21	2		2	OVOS2	12	31125516	Missense_Mutation	SNP	C	C3L-01924_TP	1	31125516	102149793	402	8717	198	2									
OVOS2	0	.	GRCh38	chr12	31148085	31148085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtactgaggcgtcaaccagCtgggaagatagcagctctta	12	8	12	9	1	2	2	1	1	1	1	2	3	2	3	1	2	5	4	1	2	5	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1241G>A	p.Ser414Asn	p.S414N	ENST00000632817	11/34	242	175	67	253	253	0	strelka-varscan-mutect	OVOS2,missense_variant,p.Ser414Asn,ENST00000398963,;OVOS2,missense_variant,p.Ser414Asn,ENST00000632817,;	T	ENST00000632817	Transcript	missense_variant	1241/4299	1241/4299	414/1432	S/N	aGc/aAc		1		-1	OVOS2	Clone_based_vega_gene		protein_coding	YES		ENSP00000487815		A0A0J9YW53	UPI0001AE6AF7		tolerated(0.21)		11/34		hmmpanther:PTHR11412:SF77,hmmpanther:PTHR11412																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	29	31148085	31148085	C	T	1	0	0	0	0	1	0	0	0	11399	797	28	3		3	OVOS2	12	31148085	Missense_Mutation	SNP	C	C3L-01924_TP	22569	31148085	102127224	403	8718											
YAF2	0	.	GRCh38	chr12	42161693	42161693	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttatcttttttctctttCtttgactgtgtaggaggcac	6	20	7	8	0	3	1	0	1	3	0	4	2	3	2	0	2	0	2	0	2	2	8	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.297G>A	p.=	p.K99K	ENST00000327791	4/5	196	169	27	264	261	3	strelka-varscan	YAF2,synonymous_variant,p.=,ENST00000327791,NM_001190979.1;YAF2,synonymous_variant,p.=,ENST00000534854,NM_005748.4;YAF2,synonymous_variant,p.=,ENST00000380790,NM_001190977.1;YAF2,downstream_gene_variant,,ENST00000548917,;YAF2,non_coding_transcript_exon_variant,,ENST00000547622,;YAF2,non_coding_transcript_exon_variant,,ENST00000547724,;YAF2,3_prime_UTR_variant,,ENST00000552109,;YAF2,3_prime_UTR_variant,,ENST00000547351,;YAF2,3_prime_UTR_variant,,ENST00000551268,;YAF2,3_prime_UTR_variant,,ENST00000546726,;YAF2,3_prime_UTR_variant,,ENST00000552928,;YAF2,3_prime_UTR_variant,,ENST00000548661,;YAF2,non_coding_transcript_exon_variant,,ENST00000551528,;YAF2,non_coding_transcript_exon_variant,,ENST00000546972,;YAF2,upstream_gene_variant,,ENST00000550315,;YAF2,downstream_gene_variant,,ENST00000547254,;	T	ENST00000327791	Transcript	synonymous_variant	353/4156	297/615	99/204	K	aaG/aaA		1		-1	YAF2	HGNC	HGNC:17363	protein_coding	YES	CCDS53779.1	ENSP00000328004	Q8IY57		UPI00000742C8	NM_001190979.1			4/5		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12920,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	42161693	42161693	C	T	1	0	0	0	0	0	0	0	1	18025	912	32	3		3	YAF2	12	42161693	Silent	SNP	C	C3L-01924_TP	11013608	42161693	91113616	404	8719											
PUS7L	0	.	GRCh38	chr12	43754980	43754980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtacttaatcaaagtaTgaacttcttggtttcttcca	11	16	6	8	0	3	1	1	1	2	0	4	1	4	1	1	1	2	3	1	1	5	7	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.266A>G	p.His89Arg	p.H89R	ENST00000344862	2/9	104	95	9	173	173	0	strelka-varscan-mutect	PUS7L,missense_variant,p.His89Arg,ENST00000344862,NM_031292.4;PUS7L,missense_variant,p.His89Arg,ENST00000416848,NM_001098615.1;PUS7L,missense_variant,p.His89Arg,ENST00000551923,NM_001098614.2;PUS7L,missense_variant,p.His89Arg,ENST00000549868,;PUS7L,intron_variant,,ENST00000431332,NM_001271826.1;PUS7L,intron_variant,,ENST00000550784,;PUS7L,intron_variant,,ENST00000547156,;IRAK4,upstream_gene_variant,,ENST00000613694,NM_016123.3;IRAK4,upstream_gene_variant,,ENST00000431837,NM_001145257.1,NM_001145256.1;IRAK4,upstream_gene_variant,,ENST00000551736,NM_001114182.2;IRAK4,upstream_gene_variant,,ENST00000440781,NM_001145258.1;IRAK4,upstream_gene_variant,,ENST00000550616,;PUS7L,missense_variant,p.His89Arg,ENST00000553166,;IRAK4,upstream_gene_variant,,ENST00000547521,;IRAK4,upstream_gene_variant,,ENST00000550386,;IRAK4,upstream_gene_variant,,ENST00000547101,;IRAK4,upstream_gene_variant,,ENST00000550615,;IRAK4,upstream_gene_variant,,ENST00000552309,;IRAK4,upstream_gene_variant,,ENST00000550361,;IRAK4,upstream_gene_variant,,ENST00000546780,;	C	ENST00000344862	Transcript	missense_variant	370/13593	266/2106	89/701	H/R	cAt/cGt		1		-1	PUS7L	HGNC	HGNC:25276	protein_coding	YES	CCDS8743.1	ENSP00000343081	Q9H0K6		UPI0000037C53	NM_031292.4	tolerated(0.62)		2/9		PIRSF_domain:PIRSF037016,hmmpanther:PTHR13326,hmmpanther:PTHR13326:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	43754980	43754980	T	C	1	0	0	0	0	1	0	0	0	12992	1464	51	5		5	PUS7L	12	43754980	Missense_Mutation	SNP	T	C3L-01924_TP	1593287	43754980	89520329	405	8720											
NELL2	0	.	GRCh38	chr12	44779855	44779855	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacactacacttacttattgCagtcaatgtgtaaaatcaaa	16	12	5	8	0	2	0	2	0	0	0	2	1	2	0	0	0	3	2	0	0	7	5	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.653G>T	p.Cys218Phe	p.C218F	ENST00000437801	5/21	136	118	18	171	171	0	strelka-varscan-mutect	NELL2,missense_variant,p.Cys168Phe,ENST00000429094,NM_001145108.1;NELL2,missense_variant,p.Cys218Phe,ENST00000437801,NM_001145107.1;NELL2,missense_variant,p.Cys167Phe,ENST00000395487,NM_001145109.1;NELL2,missense_variant,p.Cys168Phe,ENST00000452445,NM_006159.2;NELL2,missense_variant,p.Cys167Phe,ENST00000551601,;NELL2,missense_variant,p.Cys167Phe,ENST00000549027,;NELL2,missense_variant,p.Cys191Phe,ENST00000333837,NM_001145110.1;NELL2,missense_variant,p.Cys168Phe,ENST00000552993,;NELL2,missense_variant,p.Cys165Phe,ENST00000553120,;NELL2,upstream_gene_variant,,ENST00000550313,;NELL2,upstream_gene_variant,,ENST00000550462,;NELL2,non_coding_transcript_exon_variant,,ENST00000547172,;NELL2,non_coding_transcript_exon_variant,,ENST00000547751,;	A	ENST00000437801	Transcript	missense_variant	1025/3279	653/2601	218/866	C/F	tGc/tTc		1		-1	NELL2	HGNC	HGNC:7751	protein_coding	YES	CCDS44863.1	ENSP00000416341	Q99435		UPI000191537D	NM_001145107.1	deleterious(0)		5/21		hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF0,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,SMART_domains:SM00210,Superfamily_domains:SSF49899																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	29	44779855	44779855	C	A	1	0	0	0	0	1	0	0	0	10365	710	25	2		2	NELL2	12	44779855	Missense_Mutation	SNP	C	C3L-01924_TP	1024875	44779855	88495454	406	8721											
SLC4A8	0	.	GRCh38	chr12	51480074	51480074	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcctcccgagtagctGggactacaggcacgcaccac	8	5	10	18	3	0	0	0	0	0	0	2	2	2	1	5	2	2	4	5	2	2	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2096G>A	p.Trp699Ter	p.W699*	ENST00000514353	17/17	33	28	5	60	60	0	strelka-varscan-mutect	SLC4A8,stop_gained,p.Trp699Ter,ENST00000514353,NM_001258403.1;SLC4A8,intron_variant,,ENST00000453097,NM_001039960.2;SLC4A8,intron_variant,,ENST00000358657,NM_001258401.2;SLC4A8,intron_variant,,ENST00000551071,;SLC4A8,intron_variant,,ENST00000604314,;SLC4A8,intron_variant,,ENST00000319957,;	A	ENST00000514353	Transcript	stop_gained	2505/3041	2096/2244	699/747	W/*	tGg/tAg		1		1	SLC4A8	HGNC	HGNC:11034	protein_coding		CCDS58232.1	ENSP00000442561	Q2Y0W8		UPI0000E59655	NM_001258403.1			17/17																			HIGH		SNV	1			1										PASS		.	.												A	4	1	29	51480074	51480074	G	A	1	0	0	0	0	0	1	0	0	14936	1357	47	3		3	SLC4A8	12	51480074	Nonsense_Mutation	SNP	G	C3L-01924_TP	6700219	51480074	81795235	407	8722											
SOAT2	0	.	GRCh38	chr12	53119157	53119157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctatgcctgcttcatcCtgggccgcctctgtgttcct	2	15	9	15	1	3	0	1	0	2	0	5	0	5	0	5	1	3	3	5	1	1	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.943C>A	p.Leu315Met	p.L315M	ENST00000301466	10/15	165	131	34	177	177	0	strelka-varscan-mutect	SOAT2,missense_variant,p.Leu315Met,ENST00000301466,NM_003578.3;SOAT2,downstream_gene_variant,,ENST00000551896,;SOAT2,synonymous_variant,p.=,ENST00000542365,;	A	ENST00000301466	Transcript	missense_variant	1003/2044	943/1569	315/522	L/M	Ctg/Atg		1		1	SOAT2	HGNC	HGNC:11178	protein_coding	YES	CCDS8847.1	ENSP00000301466	O75908		UPI0000135B61	NM_003578.3	deleterious(0.02)		10/15		Pfam_domain:PF03062,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500230,hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF10,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1180278542	.												A	3	1	29	53119157	53119157	C	A	1	0	0	0	0	1	0	0	0	15232	680	24	2		2	SOAT2	12	53119157	Missense_Mutation	SNP	C	C3L-01924_TP	1639083	53119157	80156152	408	8723											
SP7	0	.	GRCh38	chr12	53328922	53328922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttgcagcccatcaccctGgccctgcccaccacctagcc	6	6	6	23	0	1	0	1	0	0	0	1	0	1	0	8	1	4	1	8	1	1	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.520C>A	p.Gln174Lys	p.Q174K	ENST00000536324	3/3	122	102	20	114	114	0	strelka-varscan-mutect	SP7,missense_variant,p.Gln174Lys,ENST00000536324,NM_001173467.2;SP7,missense_variant,p.Gln174Lys,ENST00000303846,NM_152860.1;SP7,missense_variant,p.Gln156Lys,ENST00000537210,NM_001300837.1;SP7,missense_variant,p.Gln156Lys,ENST00000547755,;AAAS,upstream_gene_variant,,ENST00000550286,;AAAS,upstream_gene_variant,,ENST00000551724,;AAAS,upstream_gene_variant,,ENST00000548258,;	T	ENST00000536324	Transcript	missense_variant	804/3151	520/1296	174/431	Q/K	Cag/Aag		1		-1	SP7	HGNC	HGNC:17321	protein_coding	YES	CCDS44897.1	ENSP00000443827	Q8TDD2		UPI000000D7AE	NM_001173467.2	tolerated(0.51)		3/3		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	29	53328922	53328922	G	T	1	0	0	0	0	1	0	0	0	15295	1357	47	2		2	SP7	12	53328922	Missense_Mutation	SNP	G	C3L-01924_TP	209765	53328922	79946387	409	8724											
PAN2	0	.	GRCh38	chr12	56333025	56333025	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaggtgggcatccaagaCagggtccagggcagaatgca	11	6	15	9	0	1	2	1	0	0	2	3	2	3	2	2	4	1	4	2	4	2	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.70G>C	p.Val24Leu	p.V24L	ENST00000425394	2/26	215	154	61	256	256	0	strelka-varscan-mutect	PAN2,missense_variant,p.Val24Leu,ENST00000425394,NM_001127460.2;PAN2,missense_variant,p.Val24Leu,ENST00000610546,;PAN2,missense_variant,p.Val24Leu,ENST00000548043,;PAN2,missense_variant,p.Val24Leu,ENST00000440411,NM_014871.4;PAN2,missense_variant,p.Val24Leu,ENST00000257931,NM_001166279.1;PAN2,intron_variant,,ENST00000547572,;IL23A,upstream_gene_variant,,ENST00000619177,;IL23A,upstream_gene_variant,,ENST00000622119,;PAN2,non_coding_transcript_exon_variant,,ENST00000551359,;PAN2,non_coding_transcript_exon_variant,,ENST00000547994,;PAN2,non_coding_transcript_exon_variant,,ENST00000549964,;PAN2,upstream_gene_variant,,ENST00000547518,;	G	ENST00000425394	Transcript	missense_variant	447/5372	70/3609	24/1202	V/L	Gtc/Ctc		1		-1	PAN2	HGNC	HGNC:20074	protein_coding	YES	CCDS44922.1	ENSP00000401721	Q504Q3		UPI0000577D0A	NM_001127460.2	tolerated_low_confidence(0.11)		2/26																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	56333025	56333025	C	G	1	0	0	0	0	1	0	0	0	11495	478	17	4		4	PAN2	12	56333025	Missense_Mutation	SNP	C	C3L-01924_TP	3004103	56333025	76942284	410	8725											
STAT2	0	.	GRCh38	chr12	56346166	56346166	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctattagagaccacaatgagCctgtgtttcaggtatttcct	10	14	8	9	0	1	2	1	1	0	1	2	3	2	2	3	1	1	2	3	1	4	5	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2082G>A	p.=	p.R694R	ENST00000314128	22/24	169	140	29	217	217	0	strelka-varscan-mutect	STAT2,synonymous_variant,p.=,ENST00000314128,NM_005419.3;STAT2,synonymous_variant,p.=,ENST00000557235,NM_198332.1;STAT2,downstream_gene_variant,,ENST00000418572,;STAT2,non_coding_transcript_exon_variant,,ENST00000556539,;STAT2,downstream_gene_variant,,ENST00000557252,;STAT2,non_coding_transcript_exon_variant,,ENST00000555488,;STAT2,downstream_gene_variant,,ENST00000557199,;STAT2,downstream_gene_variant,,ENST00000555519,;	T	ENST00000314128	Transcript	synonymous_variant	2106/3259	2082/2556	694/851	R	agG/agA		1		-1	STAT2	HGNC	HGNC:11363	protein_coding	YES	CCDS8917.1	ENSP00000315768	P52630	R9QE65	UPI00000473FC	NM_005419.3			22/24		Gene3D:3.30.505.10,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF41																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	56346166	56346166	C	T	1	0	0	0	0	0	0	0	1	15641	738	26	3		3	STAT2	12	56346166	Silent	SNP	C	C3L-01924_TP	13141	56346166	76929143	411	8726											
NXPH4	0	.	GRCh38	chr12	57225196	57225196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttttcgctgctggtgaccGgcaagatcgtggaccatgtg	7	11	14	9	3	0	2	0	1	0	1	2	3	0	3	2	3	1	4	2	3	1	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.376G>T	p.Gly126Cys	p.G126C	ENST00000349394	2/2	42	35	7	50	50	0	strelka-varscan-mutect	NXPH4,missense_variant,p.Gly126Cys,ENST00000349394,NM_007224.3;SHMT2,upstream_gene_variant,,ENST00000328923,NM_005412.5;SHMT2,upstream_gene_variant,,ENST00000414700,NM_001166358.1;SHMT2,upstream_gene_variant,,ENST00000557487,NM_001166356.1;SHMT2,upstream_gene_variant,,ENST00000555634,;SHMT2,upstream_gene_variant,,ENST00000556689,;SHMT2,upstream_gene_variant,,ENST00000554310,;SHMT2,upstream_gene_variant,,ENST00000553529,;SHMT2,upstream_gene_variant,,ENST00000557703,;RP11-123K3.9,downstream_gene_variant,,ENST00000617433,;NXPH4,non_coding_transcript_exon_variant,,ENST00000555154,;SHMT2,upstream_gene_variant,,ENST00000554600,;SHMT2,upstream_gene_variant,,ENST00000557740,;NXPH4,3_prime_UTR_variant,,ENST00000556415,;SHMT2,upstream_gene_variant,,ENST00000554467,;SHMT2,upstream_gene_variant,,ENST00000556825,;SHMT2,upstream_gene_variant,,ENST00000557433,;SHMT2,upstream_gene_variant,,ENST00000557348,;SHMT2,upstream_gene_variant,,ENST00000555563,;SHMT2,upstream_gene_variant,,ENST00000553950,;SHMT2,upstream_gene_variant,,ENST00000557269,;SHMT2,upstream_gene_variant,,ENST00000553324,;SHMT2,upstream_gene_variant,,ENST00000557302,;	T	ENST00000349394	Transcript	missense_variant	551/1804	376/927	126/308	G/C	Ggc/Tgc		1		1	NXPH4	HGNC	HGNC:8078	protein_coding	YES	CCDS8933.1	ENSP00000333593	O95158		UPI000004C619	NM_007224.3	deleterious(0)		2/2		Pfam_domain:PF06312,hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	57225196	57225196	G	T	1	0	0	0	0	1	0	0	0	10869	1116	39	1		1	NXPH4	12	57225196	Missense_Mutation	SNP	G	C3L-01924_TP	879030	57225196	76050113	412	8727											
DYRK2	0	.	GRCh38	chr12	67658064	67658064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacacgtacatccagtcgcGtttttaccgggctccagaag	9	10	9	13	4	0	1	0	0	0	1	3	1	2	1	3	1	3	3	3	1	4	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1157G>C	p.Arg386Pro	p.R386P	ENST00000344096	3/3	340	322	18	417	417	0	strelka-varscan-mutect	DYRK2,missense_variant,p.Arg386Pro,ENST00000344096,NM_006482.2;DYRK2,missense_variant,p.Arg313Pro,ENST00000393555,NM_003583.3;DYRK2,downstream_gene_variant,,ENST00000543747,;DYRK2,downstream_gene_variant,,ENST00000319833,;DYRK2,downstream_gene_variant,,ENST00000542503,;RP11-335O4.3,downstream_gene_variant,,ENST00000425371,;	C	ENST00000344096	Transcript	missense_variant	1570/8912	1157/1806	386/601	R/P	cGt/cCt		1		1	DYRK2	HGNC	HGNC:3093	protein_coding	YES	CCDS8978.1	ENSP00000342105	Q92630		UPI000006E92B	NM_006482.2	deleterious(0)		3/3		PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF51,hmmpanther:PTHR24058,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	67658064	67658064	G	C	1	0	0	0	0	1	0	0	0	4680	1145	40	4		4	DYRK2	12	67658064	Missense_Mutation	SNP	G	C3L-01924_TP	10432868	67658064	65617245	413	8728											
TRHDE	0	.	GRCh38	chr12	72656991	72656991	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaatttcttaatactGaaggtgaactcaaagaggta	16	11	8	6	0	3	4	2	2	1	2	3	4	3	4	0	2	2	1	0	2	7	4	rs750417544		C3L-01924_TP	C3L-01924_NB	G	G																c.2914G>T	p.Glu972Ter	p.E972*	ENST00000261180	18/19	163	151	12	242	242	0	strelka-varscan-mutect	TRHDE,stop_gained,p.Glu972Ter,ENST00000261180,NM_013381.2;	T	ENST00000261180	Transcript	stop_gained	3010/10733	2914/3075	972/1024	E/*	Gaa/Taa	rs750417544	1		1	TRHDE	HGNC	HGNC:30748	protein_coding	YES	CCDS9004.1	ENSP00000261180	Q9UKU6		UPI0000136D52	NM_013381.2			18/19		Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40																	HIGH	1	SNV	1			1										PASS		rs750417544	.												T	4	4	29	72656991	72656991	G	T	1	0	0	0	0	0	1	0	0	16968	1291	45	2		2	TRHDE	12	72656991	Nonsense_Mutation	SNP	G	C3L-01924_TP	4998927	72656991	60618318	414	8729											
PHLDA1	0	.	GRCh38	chr12	76031172	76031172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttgctgctgctgctgCtggtgttgcagctgcttggg	1	15	16	9	0	0	0	0	0	0	0	0	0	0	0	0	2	9	11	0	2	0	3	rs200070422		C3L-01924_TP	C3L-01924_NB	C	C																c.570G>C	p.Gln190His	p.Q190H	ENST00000266671	1/2	188	173	15	280	276	4	varscan-mutect	PHLDA1,missense_variant,p.Gln190His,ENST00000266671,;PHLDA1,missense_variant,p.Gln190His,ENST00000619060,NM_007350.3;PHLDA1,missense_variant,p.Gln49His,ENST00000602540,;RP11-290L1.3,non_coding_transcript_exon_variant,,ENST00000552367,;RP11-290L1.2,upstream_gene_variant,,ENST00000547721,;	G	ENST00000266671	Transcript	missense_variant	2761/8069	570/1206	190/401	Q/H	caG/caC	rs200070422	1		-1	PHLDA1	HGNC	HGNC:8933	protein_coding	YES	CCDS31861.1	ENSP00000266671	Q8WV24		UPI000013D704		tolerated_low_confidence(0.1)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR15478:SF4,hmmpanther:PTHR15478,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		rs200070422	.												G	3	3	29	76031172	76031172	C	G	1	0	0	0	0	1	0	0	0	11936	796	28	4		4	PHLDA1	12	76031172	Missense_Mutation	SNP	C	C3L-01924_TP	3374181	76031172	57244137	415	8730											
NAV3	0	.	GRCh38	chr12	78006720	78006720	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcaagctagtcaatgcccgGactgctttacgccccccgca	8	9	8	16	3	2	0	2	0	0	0	2	1	2	1	4	1	4	3	4	1	4	4			C3L-01924_TP	C3L-01924_NB	G	G																c.1182G>T	p.=	p.R394R	ENST00000397909	8/40	267	185	82	313	312	1	strelka-varscan-mutect	NAV3,synonymous_variant,p.=,ENST00000397909,NM_001024383.1;NAV3,synonymous_variant,p.=,ENST00000536525,NM_014903.5;NAV3,synonymous_variant,p.=,ENST00000549464,;NAV3,synonymous_variant,p.=,ENST00000550042,;NAV3,synonymous_variant,p.=,ENST00000550503,;NAV3,downstream_gene_variant,,ENST00000547725,;NAV3,upstream_gene_variant,,ENST00000550673,;	T	ENST00000397909	Transcript	synonymous_variant	1355/9821	1182/7158	394/2385	R	cgG/cgT	COSM4522836,COSM4522837	1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1			8/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	29	78006720	78006720	G	T	1	0	0	0	0	0	0	0	1	10194	1161	41	2		2	NAV3	12	78006720	Silent	SNP	G	C3L-01924_TP	1975548	78006720	55268589	416	8731											
OTOGL	0	.	GRCh38	chr12	80251745	80251745	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgagtatgctagagccTgctctcatgctggctaccct	7	11	9	14	0	1	2	1	1	1	1	2	2	1	2	3	1	5	5	3	1	3	3	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1078T>A	p.Cys360Ser	p.C360S	ENST00000458043	11/58	237	201	36	282	281	1	strelka-varscan-mutect	OTOGL,missense_variant,p.Cys360Ser,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Cys360Ser,ENST00000547103,;	A	ENST00000458043	Transcript	missense_variant	1084/8083	1078/7035	360/2344	C/S	Tgc/Agc		1		1	OTOGL	HGNC	HGNC:26901	protein_coding	YES		ENSP00000400895		A0A0A0MSS2	UPI0001D089C5	NM_173591.3	deleterious(0)		11/58		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF225,Pfam_domain:PF08742,SMART_domains:SM00832																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	80251745	80251745	T	A	1	0	0	0	0	1	0	0	0	11371	1580	55	4		4	OTOGL	12	80251745	Missense_Mutation	SNP	T	C3L-01924_TP	2245025	80251745	53023564	417	8732											
BTBD11	0	.	GRCh38	chr12	107610288	107610288	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccggatgctgaactgtggacGaacagacctggtgaagcagg	11	6	15	9	2	0	3	0	2	0	1	0	6	0	5	2	4	4	2	2	4	3	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1742G>C	p.Arg581Pro	p.R581P	ENST00000280758	5/17	211	174	37	257	257	0	strelka-varscan-mutect	BTBD11,missense_variant,p.Arg581Pro,ENST00000280758,NM_001018072.1;BTBD11,missense_variant,p.Arg581Pro,ENST00000490090,;BTBD11,missense_variant,p.Arg118Pro,ENST00000357167,NM_001017523.1;BTBD11,missense_variant,p.Arg581Pro,ENST00000420571,;BTBD11,missense_variant,p.Arg215Pro,ENST00000415943,;BTBD11,missense_variant,p.Arg212Pro,ENST00000550706,;RP11-128P10.1,non_coding_transcript_exon_variant,,ENST00000548473,;	C	ENST00000280758	Transcript	missense_variant	2270/5767	1742/3315	581/1104	R/P	cGa/cCa		1		1	BTBD11	HGNC	HGNC:23844	protein_coding	YES	CCDS31893.1	ENSP00000280758	A6QL63		UPI000051901E	NM_001018072.1	deleterious(0)		5/17		Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	MODERATE		SNV	5			1										PASS		rs1485751402	.												C	3	2	29	107610288	107610288	G	C	1	0	0	0	0	1	0	0	0	1714	1058	37	4		4	BTBD11	12	107610288	Missense_Mutation	SNP	G	C3L-01924_TP	27358543	107610288	25665021	418	8733											
ACACB	0	.	GRCh38	chr12	109188080	109188080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggttacttcagcgtggccGctactggaggcctgcacgag	6	8	16	11	3	1	0	1	0	0	0	1	2	1	1	2	5	4	3	2	5	2	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2062G>T	p.Ala688Ser	p.A688S	ENST00000338432	13/53	111	103	8	105	105	0	strelka-varscan-mutect	ACACB,missense_variant,p.Ala688Ser,ENST00000338432,;ACACB,missense_variant,p.Ala688Ser,ENST00000377848,NM_001093.3;ACACB,5_prime_UTR_variant,,ENST00000377854,;ACACB,upstream_gene_variant,,ENST00000544651,;	T	ENST00000338432	Transcript	missense_variant	2181/9360	2062/7377	688/2458	A/S	Gct/Tct		1		1	ACACB	HGNC	HGNC:85	protein_coding	YES	CCDS31898.1	ENSP00000341044	O00763		UPI0000DBEEFB		tolerated(0.3)		13/53		PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF94,hmmpanther:PTHR18866,Pfam_domain:PF02785,Gene3D:3.30.470.20,SMART_domains:SM00878,Superfamily_domains:SSF51246																	MODERATE	1	SNV	1			1										PASS		rs1247806490	.												T	3	4	29	109188080	109188080	G	T	1	0	0	0	0	1	0	0	0	150	1087	38	1		1	ACACB	12	109188080	Missense_Mutation	SNP	G	C3L-01924_TP	1577792	109188080	24087229	419	8734											
MMAB	0	.	GRCh38	chr12	109561045	109561045	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccagccctcttaccgtctCtcggcccggcggcacacggc	4	7	10	20	5	2	0	0	0	2	0	5	0	3	0	4	4	2	1	4	4	1	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.579G>C	p.Glu193Asp	p.E193D	ENST00000545712	7/9	420	396	24	412	412	0	strelka-varscan-mutect	MMAB,missense_variant,p.Glu193Asp,ENST00000545712,NM_052845.3;MMAB,missense_variant,p.Glu141Asp,ENST00000540016,;MMAB,3_prime_UTR_variant,,ENST00000541763,;MMAB,3_prime_UTR_variant,,ENST00000537496,;MMAB,3_prime_UTR_variant,,ENST00000544051,;MMAB,downstream_gene_variant,,ENST00000536760,;MMAB,downstream_gene_variant,,ENST00000420167,;MMAB,downstream_gene_variant,,ENST00000503497,;MMAB,downstream_gene_variant,,ENST00000542390,;	G	ENST00000545712	Transcript	missense_variant	973/4438	579/753	193/250	E/D	gaG/gaC		1		-1	MMAB	HGNC	HGNC:19331	protein_coding	YES	CCDS9131.1	ENSP00000445920	Q96EY8		UPI0000073CBF	NM_052845.3	deleterious(0)		7/9		Low_complexity_(Seg):seg,hmmpanther:PTHR12213:SF0,hmmpanther:PTHR12213,TIGRFAM_domain:TIGR00636,Gene3D:1.20.1200.10,Pfam_domain:PF01923,Superfamily_domains:SSF89028,PD007457																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	109561045	109561045	C	G	1	0	0	0	0	1	0	0	0	9603	927	32	4		4	MMAB	12	109561045	Missense_Mutation	SNP	C	C3L-01924_TP	372965	109561045	23714264	420	8735											
OAS3	0	.	GRCh38	chr12	112965946	112965946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaatgggagaatccccGcgtgctgagcttctcactga	9	9	10	13	2	1	3	1	2	1	1	4	4	3	3	3	1	2	2	3	1	2	1	rs16942374		C3L-01924_TP	C3L-01924_NB	G	G																c.2606G>T	p.Arg869Leu	p.R869L	ENST00000228928	12/16	292	259	33	322	321	1	strelka-varscan-mutect	OAS3,missense_variant,p.Arg869Leu,ENST00000228928,NM_006187.3;OAS3,missense_variant,p.Arg41Leu,ENST00000546973,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS3,upstream_gene_variant,,ENST00000549918,;OAS3,downstream_gene_variant,,ENST00000546800,;	T	ENST00000228928	Transcript	missense_variant	2785/6719	2606/3264	869/1087	R/L	cGc/cTc	rs16942374	1		1	OAS3	HGNC	HGNC:8088	protein_coding	YES	CCDS44981.1	ENSP00000228928	Q9Y6K5		UPI000034ECD3	NM_006187.3	deleterious(0.01)		12/16		hmmpanther:PTHR11258:SF4,hmmpanther:PTHR11258,Gene3D:3.30.460.10,Pfam_domain:PF01909,Superfamily_domains:SSF81301																	MODERATE	1	SNV	1			1										PASS		rs16942374	.												T	3	4	29	112965946	112965946	G	T	1	0	0	0	0	1	0	0	0	10880	1087	38	1		1	OAS3	12	112965946	Missense_Mutation	SNP	G	C3L-01924_TP	3404901	112965946	20309363	421	8736											
GCN1	0	.	GRCh38	chr12	120144666	120144666	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atacaggggatgatgggcccCacataaggagtaaacttgtc	13	8	12	8	0	0	1	0	1	0	0	1	3	0	3	2	4	2	1	2	4	4	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.5325G>T	p.=	p.V1775V	ENST00000300648	41/58	117	86	31	163	163	0	strelka-varscan-mutect	GCN1,synonymous_variant,p.=,ENST00000300648,NM_006836.1;	A	ENST00000300648	Transcript	synonymous_variant	5338/8675	5325/8016	1775/2671	V	gtG/gtT		1		-1	GCN1	HGNC	HGNC:4199	protein_coding	YES	CCDS41847.1	ENSP00000300648	Q92616		UPI0000451CA7	NM_006836.1			41/58		Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	29	120144666	120144666	C	A	1	0	0	0	0	0	0	0	1	6169	581	21	2		2	GCN1	12	120144666	Silent	SNP	C	C3L-01924_TP	7178720	120144666	13130643	422	8737											
TMEM132D	0	.	GRCh38	chr12	129209552	129209552	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcatcagacgatctacactCcacagactccagcagctctg	11	9	6	15	1	4	2	2	0	2	2	6	3	6	2	2	0	3	2	2	0	1	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1411G>T	p.Glu471Ter	p.E471*	ENST00000422113	5/9	176	125	51	192	192	0	strelka-varscan-mutect	TMEM132D,stop_gained,p.Glu471Ter,ENST00000422113,NM_133448.2;RP11-669N7.3,splice_region_variant,,ENST00000542578,;	A	ENST00000422113	Transcript	stop_gained	1738/5776	1411/3300	471/1099	E/*	Gag/Tag		1		-1	TMEM132D	HGNC	HGNC:29411	protein_coding	YES	CCDS9266.1	ENSP00000408581	Q14C87		UPI000023759C	NM_133448.2			5/9		Pfam_domain:PF16070,hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF2																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	29	129209552	129209552	C	A	1	0	0	0	0	0	1	0	0	16492	864	30	2		2	TMEM132D	12	129209552	Nonsense_Mutation	SNP	C	C3L-01924_TP	9064886	129209552	4065757	423	8738											
RIMBP2	0	.	GRCh38	chr12	130437138	130437138	+	Frame_Shift_Del	DEL	C	C	-																															cgggtggggggtaggaggcaCcaggagctcggggggaacgg																								novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1759delG	p.Val587CysfsTer16	p.V587Cfs*16	ENST00000261655	10/19	47	43	4	71	71	0	sindel-pindel	RIMBP2,frameshift_variant,p.Val587CysfsTer16,ENST00000261655,NM_015347.4;RIMBP2,frameshift_variant,p.Val495CysfsTer16,ENST00000535703,;	-	ENST00000261655	Transcript	frameshift_variant	1923/6321	1759/3159	587/1052	V/X	Gtg/tg		1		-1	RIMBP2	HGNC	HGNC:30339	protein_coding	YES	CCDS31925.1	ENSP00000261655	O15034		UPI00001C1F42	NM_015347.4			10/19		PROSITE_profiles:PS50853,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18,Low_complexity_(Seg):seg,Superfamily_domains:SSF49265																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	29	130437138	130437138	C	-	1	0	1	0	1	0	0	0	0	13538	507	18	0		0	RIMBP2	12	130437138	Frame_Shift_Del	DEL	C	C3L-01924_TP	1227586	130437138	2838171	424	8739											
KL	0	.	GRCh38	chr13	33060726	33060726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacctgaatgtttacctgtgGgatgtccaccacagtaaaag	12	10	10	9	0	0	1	0	1	0	0	1	3	1	2	4	1	1	2	4	1	4	3	rs143984655		C3L-01924_TP	C3L-01924_NB	G	G																c.1647G>T	p.Trp549Cys	p.W549C	ENST00000380099	4/5	205	174	31	306	305	1	strelka-varscan-mutect	KL,missense_variant,p.Trp549Cys,ENST00000380099,NM_004795.3;KL,non_coding_transcript_exon_variant,,ENST00000487852,;	T	ENST00000380099	Transcript	missense_variant	1655/5006	1647/3039	549/1012	W/C	tgG/tgT	rs143984655,COSM109105	1		1	KL	HGNC	HGNC:6344	protein_coding	YES	CCDS9347.1	ENSP00000369442	Q9UEF7		UPI000013CEBA	NM_004795.3	deleterious(0)		4/5		hmmpanther:PTHR10353,hmmpanther:PTHR10353:SF10,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445											1,1						MODERATE	1	SNV	1		0,1	1										PASS		rs143984655	.												T	3	4	29	33060726	33060726	G	T	1	0	0	0	0	1	0	0	0	8196	1241	43	2		2	KL	13	33060726	Missense_Mutation	SNP	G	C3L-01924_TP		33060726	81303602	425	8740											
DCLK1	0	.	GRCh38	chr13	35871252	35871252	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggaggcaggggacttgctAcgcctggacggtcctgggct	5	8	18	10	2	0	0	0	0	0	0	1	3	1	3	2	7	2	3	2	7	1	2	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.912T>A	p.=	p.R304R	ENST00000255448	5/18	142	121	21	222	221	1	strelka-varscan-mutect	DCLK1,synonymous_variant,p.=,ENST00000360631,;DCLK1,synonymous_variant,p.=,ENST00000255448,NM_004734.4;DCLK1,synonymous_variant,p.=,ENST00000379892,;	T	ENST00000255448	Transcript	synonymous_variant	1124/5703	912/2190	304/729	R	cgT/cgA		1		-1	DCLK1	HGNC	HGNC:2700	protein_coding	YES	CCDS9354.1	ENSP00000255448	O15075		UPI000002A7C2	NM_004734.4			5/18		hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF122,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	35871252	35871252	A	T	1	0	0	0	0	0	0	0	1	4093	378	14	4		4	DCLK1	13	35871252	Silent	SNP	A	C3L-01924_TP	2810526	35871252	78493076	426	8741											
LCP1	0	.	GRCh38	chr13	46158576	46158576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaagtaccaccgattgCacaaatcccttccttcttat	10	13	4	14	1	2	1	0	1	2	0	4	2	4	1	4	0	2	2	4	0	4	5	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.304G>T	p.Ala102Ser	p.A102S	ENST00000398576	7/19	189	169	20	286	286	0	strelka-varscan-mutect	LCP1,missense_variant,p.Ala102Ser,ENST00000398576,;LCP1,missense_variant,p.Ala102Ser,ENST00000323076,NM_002298.4;LCP1,missense_variant,p.Ala102Ser,ENST00000416500,;LCP1,downstream_gene_variant,,ENST00000442275,;LCP1,downstream_gene_variant,,ENST00000460190,;	A	ENST00000398576	Transcript	missense_variant	693/3944	304/1884	102/627	A/S	Gca/Tca		1		-1	LCP1	HGNC	HGNC:6528	protein_coding	YES	CCDS9403.1	ENSP00000381581	P13796	A0A024RDT4	UPI0000070B5C		tolerated(0.54)		7/19		hmmpanther:PTHR19961,hmmpanther:PTHR19961:SF35																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	46158576	46158576	C	A	1	0	0	0	0	1	0	0	0	8597	710	25	2		2	LCP1	13	46158576	Missense_Mutation	SNP	C	C3L-01924_TP	10287324	46158576	68205752	427	8742											
PCDH8	0	.	GRCh38	chr13	52846809	52846809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacacggcgcccccggcgCggcccacctcggcctccagc	4	3	13	21	6	0	0	0	0	0	0	2	1	1	1	6	5	1	0	6	5	0	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1628G>T	p.Arg543Leu	p.R543L	ENST00000377942	1/3	102	84	18	150	150	0	strelka-varscan-mutect	PCDH8,missense_variant,p.Arg543Leu,ENST00000377942,NM_002590.3;PCDH8,missense_variant,p.Arg543Leu,ENST00000338862,NM_032949.2;PCDH8,upstream_gene_variant,,ENST00000613548,;	A	ENST00000377942	Transcript	missense_variant	1832/5088	1628/3213	543/1070	R/L	cGc/cTc		1		-1	PCDH8	HGNC	HGNC:8660	protein_coding	YES	CCDS9438.1	ENSP00000367177	O95206		UPI0000072D47	NM_002590.3	tolerated(0.49)		1/3		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF46,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	52846809	52846809	C	A	1	0	0	0	0	1	0	0	0	11604	768	27	1		1	PCDH8	13	52846809	Missense_Mutation	SNP	C	C3L-01924_TP	6688233	52846809	61517519	428	8743											
PCDH17	0	.	GRCh38	chr13	57634754	57634754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagcgcgagaacaaggaGatccgcacttacaactgccg	13	5	11	12	4	0	2	0	0	0	2	1	4	1	2	2	1	6	2	2	1	5	1			C3L-01924_TP	C3L-01924_NB	G	G																c.2208G>T	p.Glu736Asp	p.E736D	ENST00000377918	1/4	289	255	34	334	334	0	strelka-varscan-mutect	PCDH17,missense_variant,p.Glu736Asp,ENST00000377918,NM_001040429.2;PCDH17,missense_variant,p.Glu124Asp,ENST00000612954,;PCDH17,upstream_gene_variant,,ENST00000615375,;RP11-95F22.1,upstream_gene_variant,,ENST00000610846,;PCDH17,missense_variant,p.Glu736Asp,ENST00000484979,;	T	ENST00000377918	Transcript	missense_variant	2943/8232	2208/3480	736/1159	E/D	gaG/gaT	COSM416332	1		1	PCDH17	HGNC	HGNC:14267	protein_coding	YES	CCDS31986.1	ENSP00000367151	O14917		UPI00001FCE5B	NM_001040429.2	tolerated(0.06)		1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	29	57634754	57634754	G	T	1	0	0	0	0	1	0	0	0	11599	933	33	2		2	PCDH17	13	57634754	Missense_Mutation	SNP	G	C3L-01924_TP	4787945	57634754	56729574	429	8744											
PCDH17	0	.	GRCh38	chr13	57724864	57724864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcattgccaacgttaaacCttatttaaaagccaaacgtg	14	12	5	10	2	1	0	1	0	1	0	2	0	1	0	3	0	5	1	3	0	7	5			C3L-01924_TP	C3L-01924_NB	C	C																c.3050C>A	p.Pro1017His	p.P1017H	ENST00000377918	4/4	224	197	27	309	309	0	strelka-varscan-mutect	PCDH17,missense_variant,p.Pro1017His,ENST00000377918,NM_001040429.2;PCDH17,missense_variant,p.Pro404His,ENST00000612954,;PCDH17,downstream_gene_variant,,ENST00000615375,;PCDH17,3_prime_UTR_variant,,ENST00000484979,;	A	ENST00000377918	Transcript	missense_variant	3785/8232	3050/3480	1017/1159	P/H	cCt/cAt	COSM3469399	1		1	PCDH17	HGNC	HGNC:14267	protein_coding	YES	CCDS31986.1	ENSP00000367151	O14917		UPI00001FCE5B	NM_001040429.2	deleterious(0.01)		4/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	29	57724864	57724864	C	A	1	0	0	0	0	1	0	0	0	11599	681	24	2		2	PCDH17	13	57724864	Missense_Mutation	SNP	C	C3L-01924_TP	90110	57724864	56639464	430	8745											
SLITRK5	0	.	GRCh38	chr13	87677774	87677774	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaccacctgcagcagcagCagcagccgccgccgccaccg	9	1	10	21	4	0	0	0	0	0	0	0	0	0	0	8	0	6	5	8	0	0	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2386C>G	p.Gln796Glu	p.Q796E	ENST00000325089	2/2	137	121	16	201	200	1	strelka-varscan-mutect	SLITRK5,missense_variant,p.Gln796Glu,ENST00000325089,NM_015567.1;	G	ENST00000325089	Transcript	missense_variant	2605/21103	2386/2877	796/958	Q/E	Cag/Gag		1		1	SLITRK5	HGNC	HGNC:20295	protein_coding	YES	CCDS9465.1	ENSP00000366283	O94991		UPI000015F6F7	NM_015567.1	tolerated(1)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	87677774	87677774	C	G	1	0	0	0	0	1	0	0	0	15037	711	25	4		4	SLITRK5	13	87677774	Missense_Mutation	SNP	C	C3L-01924_TP	29952910	87677774	26686554	431	8746											
RNF113B	0	.	GRCh38	chr13	98177142	98177142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggccgggcgctttctgaggCctgcagcccctttccgtcca	4	9	12	16	3	1	1	0	1	1	0	3	1	3	1	6	3	2	2	6	3	0	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.95G>A	p.Gly32Asp	p.G32D	ENST00000267291	1/2	67	62	5	107	107	0	strelka-varscan-mutect	RNF113B,missense_variant,p.Gly32Asp,ENST00000267291,NM_178861.4;FARP1,intron_variant,,ENST00000596580,;FARP1,intron_variant,,ENST00000319562,NM_005766.3;FARP1,intron_variant,,ENST00000627049,;FARP1,intron_variant,,ENST00000595437,NM_001286839.1;FARP1,intron_variant,,ENST00000376581,NM_001001715.3;FARP1,upstream_gene_variant,,ENST00000598389,;FARP1,intron_variant,,ENST00000600648,;	T	ENST00000267291	Transcript	missense_variant	124/1376	95/969	32/322	G/D	gGc/gAc		1		-1	RNF113B	HGNC	HGNC:17267	protein_coding	YES	CCDS9486.1	ENSP00000267291	Q8IZP6		UPI000006F203	NM_178861.4	tolerated(0.1)		1/2		hmmpanther:PTHR12930,hmmpanther:PTHR12930:SF1																	MODERATE	1	SNV	1			1										PASS		rs1368939643	.												T	3	4	29	98177142	98177142	C	T	1	0	0	0	0	1	0	0	0	13606	739	26	3		3	RNF113B	13	98177142	Missense_Mutation	SNP	C	C3L-01924_TP	10499368	98177142	16187186	432	8747											
CCDC168	0	.	GRCh38	chr13	102740477	102740477	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggatacttttgagggcaaGatatatgctcccaaaagttc	13	11	10	7	0	0	2	0	1	0	1	2	3	1	3	1	2	2	3	1	2	6	6	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.10220C>G	p.Ser3407Cys	p.S3407C	ENST00000322527	4/4	133	118	15	217	217	0	strelka-varscan-mutect	CCDC168,missense_variant,p.Ser3407Cys,ENST00000322527,NM_001146197.1;LINC00283,upstream_gene_variant,,ENST00000430111,;	C	ENST00000322527	Transcript	missense_variant	10358/21466	10220/21246	3407/7081	S/C	tCt/tGt		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	tolerated(0.13)		4/4																			MODERATE	1	SNV	3			1										PASS		.	.												C	3	2	29	102740477	102740477	G	C	1	0	0	0	0	1	0	0	0	2484	942	33	4		4	CCDC168	13	102740477	Missense_Mutation	SNP	G	C3L-01924_TP	4563335	102740477	11623851	433	8748											
DAOA	0	.	GRCh38	chr13	105489947	105489947	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaagtcttcatggcaagaAactatgagttccttgcctat	13	12	8	8	0	2	2	1	1	1	1	3	3	3	2	2	1	2	2	2	1	6	5			C3L-01924_TP	C3L-01924_NB	A	A																c.328A>C	p.Asn110His	p.N110H	ENST00000618629	4/4	218	200	18	279	279	0	strelka-varscan-mutect	DAOA,missense_variant,p.Asn39His,ENST00000329625,NM_001161814.1;DAOA,missense_variant,p.Asn110His,ENST00000618629,;DAOA,missense_variant,p.Asn110His,ENST00000375936,NM_172370.4,NM_001161812.1;DAOA-AS1,non_coding_transcript_exon_variant,,ENST00000448407,;DAOA,missense_variant,p.Asn39His,ENST00000559369,;DAOA,missense_variant,p.Asn39His,ENST00000600388,;DAOA,missense_variant,p.Asn82His,ENST00000595812,;DAOA,3_prime_UTR_variant,,ENST00000473269,;DAOA,3_prime_UTR_variant,,ENST00000471432,;DAOA,3_prime_UTR_variant,,ENST00000488534,;DAOA,3_prime_UTR_variant,,ENST00000601240,;DAOA,3_prime_UTR_variant,,ENST00000489237,;	C	ENST00000618629	Transcript	missense_variant	328/1368	328/462	110/153	N/H	Aac/Cac	COSM945222	1		1	DAOA	HGNC	HGNC:21191	protein_coding	YES	CCDS41905.1	ENSP00000483757	P59103		UPI00001B01AA		deleterious_low_confidence(0.02)		4/4		Pfam_domain:PF15199											1						MODERATE		SNV	5		1	1										PASS		.	.												C	3	2	29	105489947	105489947	A	C	1	0	0	0	0	1	0	0	0	4033	14	1	5		5	DAOA	13	105489947	Missense_Mutation	SNP	A	C3L-01924_TP	2749470	105489947	8874381	434	8749											
GRK1	0	.	GRCh38	chr13	113731309	113731309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccctgtatgagatgattgCggccagaggacccttccgag	9	8	12	12	2	0	3	0	2	0	2	1	6	1	4	4	2	1	1	4	2	1	3	rs766150912		C3L-01924_TP	C3L-01924_NB	C	C																c.1160C>T	p.Ala387Val	p.A387V	ENST00000335678	5/7	176	153	23	212	212	0	strelka-varscan-mutect	GRK1,missense_variant,p.Ala387Val,ENST00000335678,;GRK1,non_coding_transcript_exon_variant,,ENST00000545304,;GRK1,upstream_gene_variant,,ENST00000606140,;	T	ENST00000335678	Transcript	missense_variant	1392/4296	1160/1692	387/563	A/V	gCg/gTg	rs766150912,COSM945649	1		1	GRK1	HGNC	HGNC:10013	protein_coding	YES		ENSP00000334876	Q15835		UPI0000133B08		deleterious(0.03)		5/7		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF11,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs766150912	.												T	3	4	29	113731309	113731309	C	T	1	0	0	0	0	1	0	0	0	6671	768	27	1		1	GRK1	13	113731309	Missense_Mutation	SNP	C	C3L-01924_TP	8241362	113731309	633019	435	8750											
OR11H2	0	.	GRCh38	chr14	19713263	19713263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaccaaaaataactaatgaGcttagagtgtagcaaaacag	19	9	7	6	0	0	2	0	1	0	1	0	2	0	2	1	0	5	3	1	0	9	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.654C>A	p.Ser218Arg	p.S218R	ENST00000556246	1/1	228	203	25	295	294	1	varscan-mutect	OR11H2,missense_variant,p.Ser218Arg,ENST00000556246,NM_001197287.1;	T	ENST00000556246	Transcript	missense_variant	658/985	654/981	218/326	S/R	agC/agA		1		-1	OR11H2	HGNC	HGNC:14716	protein_coding	YES	CCDS76655.1	ENSP00000485150	Q8NH07		UPI0000061EAC	NM_001197287.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF201,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	29	19713263	19713263	G	T	1	0	0	0	0	1	0	0	0	11004	962	34	2		2	OR11H2	14	19713263	Missense_Mutation	SNP	G	C3L-01924_TP		19713263	87330455	436	8751											
OR4M1	0	.	GRCh38	chr14	19780383	19780383	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactggcctatcccagactCgggaggtccaactagtccta	9	9	9	14	1	1	1	1	0	0	1	5	2	4	2	4	3	1	0	4	3	4	3	rs748644352		C3L-01924_TP	C3L-01924_NB	C	C																c.61C>A	p.=	p.R21R	ENST00000315957	1/1	130	120	10	156	156	0	varscan-mutect	OR4M1,synonymous_variant,p.=,ENST00000315957,NM_001005500.1;OR4N2,intron_variant,,ENST00000557414,;	A	ENST00000315957	Transcript	synonymous_variant	142/1116	61/942	21/313	R	Cgg/Agg	rs748644352	1		1	OR4M1	HGNC	HGNC:14735	protein_coding	YES	CCDS32021.1	ENSP00000319654	Q8NGD0	A0A126GWC3	UPI0000061F0F	NM_001005500.1			1/1		hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs748644352	.												A	2	1	29	19780383	19780383	C	A	1	0	0	0	0	0	0	0	1	11152	875	31	1		1	OR4M1	14	19780383	Silent	SNP	C	C3L-01924_TP	67120	19780383	87263335	437	8752											
RNASE3	0	.	GRCh38	chr14	20891923	20891923	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaacttttgctaatgtagtTaatgtttgtggtaaccaaag	13	15	8	5	0	0	0	0	0	0	0	0	0	0	0	1	1	3	5	1	1	6	7	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.237T>C	p.=	p.V79V	ENST00000304639	2/2	480	313	167	520	520	0	strelka-varscan-mutect	RNASE3,synonymous_variant,p.=,ENST00000304639,NM_002935.2;	C	ENST00000304639	Transcript	synonymous_variant	295/720	237/483	79/160	V	gtT/gtC		1		1	RNASE3	HGNC	HGNC:10046	protein_coding	YES	CCDS9560.1	ENSP00000302324	P12724		UPI000013E9AE	NM_002935.2			2/2		hmmpanther:PTHR11437:SF26,hmmpanther:PTHR11437,Gene3D:3.10.130.10,Pfam_domain:PF00074,SMART_domains:SM00092,Superfamily_domains:SSF54076,Prints_domain:PR00794,PD000535																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	29	20891923	20891923	T	C	1	0	0	0	0	0	0	0	1	13584	1741	61	5		5	RNASE3	14	20891923	Silent	SNP	T	C3L-01924_TP	1111540	20891923	86151795	438	8753											
DAD1	0	.	GRCh38	chr14	22589146	22589146	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgaaatgacagacactacCgacgccgacataactgcacg	14	4	9	14	6	0	2	0	1	0	1	0	5	0	2	2	0	3	1	2	0	3	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.12G>T	p.=	p.S4S	ENST00000250498	1/3	212	198	14	203	202	1	strelka-varscan-mutect	DAD1,synonymous_variant,p.=,ENST00000250498,NM_001344.3;DAD1,synonymous_variant,p.=,ENST00000543337,;DAD1,synonymous_variant,p.=,ENST00000538631,;DAD1,synonymous_variant,p.=,ENST00000535847,;	A	ENST00000250498	Transcript	synonymous_variant	124/731	12/342	4/113	S	tcG/tcT		1		-1	DAD1	HGNC	HGNC:2664	protein_coding	YES	CCDS9571.1	ENSP00000250498	P61803		UPI00000040DF	NM_001344.3			1/3		PIRSF_domain:PIRSF005588,hmmpanther:PTHR10705																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	29	22589146	22589146	C	A	1	0	0	0	0	0	0	0	1	4026	639	23	1		1	DAD1	14	22589146	Silent	SNP	C	C3L-01924_TP	1697223	22589146	84454572	439	8754											
NPAS3	0	.	GRCh38	chr14	33800610	33800610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacggcggcgggggcggggGcgggggcggcggcgcggggg	2	0	30	9	9	0	0	0	0	0	0	0	1	0	0	0	12	1	0	0	12	1	0	rs773780585		C3L-01924_TP	C3L-01924_NB	G	G																c.2303G>T	p.Gly768Val	p.G768V	ENST00000356141	12/12	92	63	29	87	87	0	strelka-varscan-mutect	NPAS3,missense_variant,p.Gly736Val,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Gly738Val,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Gly773Val,ENST00000551492,;NPAS3,missense_variant,p.Gly768Val,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Gly755Val,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Gly742Val,ENST00000551634,;	T	ENST00000356141	Transcript	missense_variant	2303/2802	2303/2802	768/933	G/V	gGc/gTc	rs773780585	1		1	NPAS3	HGNC	HGNC:19311	protein_coding	YES	CCDS53891.1	ENSP00000348460	Q8IXF0	X5D2Q4	UPI00000743C2	NM_001164749.1	deleterious_low_confidence(0.01)		12/12		Low_complexity_(Seg):seg,hmmpanther:PTHR23043:SF30,hmmpanther:PTHR23043																	MODERATE	1	SNV	1			1										PASS		rs773780585	.												T	3	4	29	33800610	33800610	G	T	1	0	0	0	0	1	0	0	0	10612	1203	42	2		2	NPAS3	14	33800610	Missense_Mutation	SNP	G	C3L-01924_TP	11211464	33800610	73243108	440	8755											
RALGAPA1	0	.	GRCh38	chr14	35760888	35760888	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagttcgaggtccatgttcaGactgtggtgctgaaaatcca	11	11	11	8	1	1	2	1	1	0	1	4	3	3	2	2	2	1	3	2	2	3	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.488C>G	p.Ser163Cys	p.S163C	ENST00000307138	6/40	118	97	21	144	144	0	strelka-varscan-mutect	RALGAPA1,missense_variant,p.Ser163Cys,ENST00000637992,;RALGAPA1,missense_variant,p.Ser163Cys,ENST00000307138,NM_194301.2;RALGAPA1,missense_variant,p.Ser163Cys,ENST00000389698,NM_014990.1;RALGAPA1,missense_variant,p.Ser163Cys,ENST00000382366,NM_001283043.1;RALGAPA1,missense_variant,p.Ser163Cys,ENST00000553892,NM_001283044.1;SNORA31,downstream_gene_variant,,ENST00000517250,;RALGAPA1,upstream_gene_variant,,ENST00000554704,;RALGAPA1,upstream_gene_variant,,ENST00000555828,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554652,;QRSL1P3,upstream_gene_variant,,ENST00000552666,;	C	ENST00000307138	Transcript	missense_variant	957/7911	488/6252	163/2083	S/C	tCt/tGt		1		-1	RALGAPA1	HGNC	HGNC:17770	protein_coding	YES	CCDS32064.1	ENSP00000302647	Q6GYQ0		UPI00003B5C51	NM_194301.2	deleterious(0.04)		6/40		hmmpanther:PTHR10063:SF3,hmmpanther:PTHR10063																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	35760888	35760888	G	C	1	0	0	0	0	1	0	0	0	13172	942	33	4		4	RALGAPA1	14	35760888	Missense_Mutation	SNP	G	C3L-01924_TP	1960278	35760888	71282830	441	8756											
C14orf37	0	.	GRCh38	chr14	58138568	58138568	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtggcagcagcctgggtgTtatcagctgtcatctgcgaa	7	11	14	9	1	3	0	2	0	1	0	3	1	3	0	1	3	4	4	1	3	2	1	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.791A>T	p.Asn264Ile	p.N264I	ENST00000267485	2/8	152	138	14	198	197	1	strelka-varscan-mutect	C14orf37,missense_variant,p.Asn264Ile,ENST00000267485,NM_001001872.2;C14orf37,non_coding_transcript_exon_variant,,ENST00000334342,;C14orf37,non_coding_transcript_exon_variant,,ENST00000557175,;C14orf37,downstream_gene_variant,,ENST00000554218,;UBA52P3,upstream_gene_variant,,ENST00000491303,;	A	ENST00000267485	Transcript	missense_variant	986/6495	791/2325	264/774	N/I	aAc/aTc		1		-1	C14orf37	HGNC	HGNC:19846	protein_coding	YES	CCDS32089.1	ENSP00000267485	Q86TY3		UPI000000CC37	NM_001001872.2	tolerated(0.09)		2/8		hmmpanther:PTHR21585,hmmpanther:PTHR21585:SF0,Pfam_domain:PF15767																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	58138568	58138568	T	A	1	0	0	0	0	1	0	0	0	1838	1725	60	4		4	C14orf37	14	58138568	Missense_Mutation	SNP	T	C3L-01924_TP	22377680	58138568	48905150	442	8757											
SIX4	0	.	GRCh38	chr14	60714188	60714188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccatctgaagtgcttgagCttactgagatattacctaaa	12	14	7	8	0	1	3	0	3	1	1	2	4	2	3	2	0	4	2	2	0	6	6	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1565G>T	p.Ser522Ile	p.S522I	ENST00000216513	3/3	87	54	33	107	107	0	strelka-varscan-mutect	SIX4,missense_variant,p.Ser522Ile,ENST00000216513,NM_017420.4;SIX4,non_coding_transcript_exon_variant,,ENST00000554079,;	A	ENST00000216513	Transcript	missense_variant	1625/6285	1565/2346	522/781	S/I	aGc/aTc		1		-1	SIX4	HGNC	HGNC:10890	protein_coding	YES	CCDS9749.2	ENSP00000216513	Q9UIU6		UPI000066D924	NM_017420.4	deleterious(0)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF36																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	60714188	60714188	C	A	1	0	0	0	0	1	0	0	0	14612	797	28	2		2	SIX4	14	60714188	Missense_Mutation	SNP	C	C3L-01924_TP	2575620	60714188	46329530	443	8758											
PSEN1	0	.	GRCh38	chr14	73192665	73192665	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgtttaaaacctataaCgttgctgtggactacattac	13	13	8	7	1	0	0	0	0	0	0	0	2	0	1	1	1	5	3	1	1	7	7	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.570C>T	p.=	p.N190N	ENST00000324501	7/12	238	156	82	346	346	0	strelka-varscan-mutect	PSEN1,synonymous_variant,p.=,ENST00000324501,NM_000021.3;PSEN1,synonymous_variant,p.=,ENST00000406768,;PSEN1,synonymous_variant,p.=,ENST00000394164,;PSEN1,synonymous_variant,p.=,ENST00000357710,NM_007318.2;PSEN1,synonymous_variant,p.=,ENST00000557511,;PSEN1,synonymous_variant,p.=,ENST00000555386,;PSEN1,synonymous_variant,p.=,ENST00000553855,;RP4-687K1.2,downstream_gene_variant,,ENST00000554078,;	T	ENST00000324501	Transcript	synonymous_variant	842/6078	570/1404	190/467	N	aaC/aaT		1		1	PSEN1	HGNC	HGNC:9508	protein_coding	YES	CCDS9812.1	ENSP00000326366	P49768	A0A024R6A3	UPI000003F05F	NM_000021.3			7/12		Pfam_domain:PF01080,hmmpanther:PTHR10202,hmmpanther:PTHR10202:SF18,SMART_domains:SM00730																	LOW	1	SNV	1			1										PASS		rs1260743710	.												T	2	4	29	73192665	73192665	C	T	1	0	0	0	0	0	0	0	1	12801	535	19	1		1	PSEN1	14	73192665	Silent	SNP	C	C3L-01924_TP	12478477	73192665	33851053	444	8759											
NEK9	0	.	GRCh38	chr14	75109751	75109751	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtattccctgcacagacctgCcgggcactacagccactctt	8	9	8	16	1	1	1	0	0	1	1	2	1	2	1	4	1	4	3	4	1	2	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1116G>T	p.=	p.R372R	ENST00000238616	10/22	238	165	73	299	299	0	strelka-varscan-mutect	NEK9,synonymous_variant,p.=,ENST00000238616,NM_033116.4;NEK9,non_coding_transcript_exon_variant,,ENST00000557026,;NEK9,non_coding_transcript_exon_variant,,ENST00000556170,;	A	ENST00000238616	Transcript	synonymous_variant	1275/8310	1116/2940	372/979	R	cgG/cgT		1		-1	NEK9	HGNC	HGNC:18591	protein_coding	YES	CCDS9839.1	ENSP00000238616	Q8TD19		UPI00001FD89B	NM_033116.4			10/22		Gene3D:2.130.10.30,hmmpanther:PTHR24362,hmmpanther:PTHR24362:SF256,Superfamily_domains:SSF50985																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	29	75109751	75109751	C	A	1	0	0	0	0	0	0	0	1	10359	726	26	2		2	NEK9	14	75109751	Silent	SNP	C	C3L-01924_TP	1917086	75109751	31933967	445	8760											
NEK9	0	.	GRCh38	chr14	75117271	75117271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagatatcagacttgaaaTtgtactttactccttgacag	12	13	6	10	0	1	4	1	2	0	2	2	4	2	4	2	0	2	1	2	0	4	7			C3L-01924_TP	C3L-01924_NB	T	T																c.686A>G	p.Asn229Ser	p.N229S	ENST00000238616	6/22	173	140	33	242	242	0	strelka-varscan-mutect	NEK9,missense_variant,p.Asn229Ser,ENST00000238616,NM_033116.4;NEK9,missense_variant,p.Asn111Ser,ENST00000557673,;NEK9,downstream_gene_variant,,ENST00000553823,;NEK9,3_prime_UTR_variant,,ENST00000554258,;NEK9,non_coding_transcript_exon_variant,,ENST00000556170,;NEK9,upstream_gene_variant,,ENST00000557026,;NEK9,downstream_gene_variant,,ENST00000553945,;NEK9,downstream_gene_variant,,ENST00000555961,;HIF1AP1,upstream_gene_variant,,ENST00000553642,;	C	ENST00000238616	Transcript	missense_variant	845/8310	686/2940	229/979	N/S	aAt/aGt	COSM470261	1		-1	NEK9	HGNC	HGNC:18591	protein_coding	YES	CCDS9839.1	ENSP00000238616	Q8TD19		UPI00001FD89B	NM_033116.4	tolerated(0.07)		6/22		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24362,hmmpanther:PTHR24362:SF256,SMART_domains:SM00220,Superfamily_domains:SSF56112											1						MODERATE	1	SNV	1		1	1										PASS		rs954321670	.												C	3	2	29	75117271	75117271	T	C	1	0	0	0	0	1	0	0	0	10359	1493	52	5		5	NEK9	14	75117271	Missense_Mutation	SNP	T	C3L-01924_TP	7520	75117271	31926447	446	8761											
ZC3H14	0	.	GRCh38	chr14	88568037	88568037	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctacctttccttttaaatAgatgaagaacttcctgatta	13	16	4	8	0	1	4	0	2	1	2	3	4	3	4	3	0	2	0	3	0	7	7	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.80-2A>T		p.X27_splice	ENST00000251038		290	178	112	331	331	0	strelka-varscan-mutect	ZC3H14,splice_acceptor_variant,,ENST00000251038,NM_001160103.1,NM_024824.4;ZC3H14,splice_acceptor_variant,,ENST00000302216,NM_207660.3;ZC3H14,splice_acceptor_variant,,ENST00000555755,NM_001160104.1;ZC3H14,splice_acceptor_variant,,ENST00000393514,;ZC3H14,splice_acceptor_variant,,ENST00000556945,;ZC3H14,splice_acceptor_variant,,ENST00000336693,NM_207661.2;ZC3H14,splice_acceptor_variant,,ENST00000556158,;ZC3H14,splice_acceptor_variant,,ENST00000555799,;ZC3H14,splice_acceptor_variant,,ENST00000557693,;ZC3H14,5_prime_UTR_variant,,ENST00000554602,;ZC3H14,5_prime_UTR_variant,,ENST00000555120,;ZC3H14,intron_variant,,ENST00000557607,;ZC3H14,upstream_gene_variant,,ENST00000556000,;ZC3H14,splice_acceptor_variant,,ENST00000553495,;	T	ENST00000251038	Transcript	splice_acceptor_variant	-/18281	80/2211	27/736				1		1	ZC3H14	HGNC	HGNC:20509	protein_coding	YES	CCDS32133.1	ENSP00000251038	Q6PJT7		UPI00001BDB9B	NM_001160103.1,NM_024824.4				2/16																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	29	88568037	88568037	A	T	1	0	0	0	0	0	0	1	0	18141	434	15	4		4	ZC3H14	14	88568037	Splice_Site	SNP	A	C3L-01924_TP	13450766	88568037	18475681	447	8762											
BTBD7	0	.	GRCh38	chr14	93242548	93242548	+	Frame_Shift_Del	DEL	C	C	-																															actagcattttctggggctgCcaaaggaaagtctgaccgct																								novel		C3L-01924_TP	C3L-01924_NB	C	C																c.3124delG	p.Ala1042GlnfsTer19	p.A1042Qfs*19	ENST00000334746	11/11	301	180	121	393	393	0	sindel-varindel-pindel	BTBD7,frameshift_variant,p.Ala1042GlnfsTer19,ENST00000334746,NM_001002860.3;BTBD7,frameshift_variant,p.Ala691GlnfsTer19,ENST00000554565,NM_001289133.1;BTBD7,frameshift_variant,p.Ala657GlnfsTer19,ENST00000553975,;BTBD7,3_prime_UTR_variant,,ENST00000355125,;RP11-85G20.2,upstream_gene_variant,,ENST00000492041,;	-	ENST00000334746	Transcript	frameshift_variant	3432/8430	3124/3399	1042/1132	A/X	Gca/ca		1		-1	BTBD7	HGNC	HGNC:18269	protein_coding	YES	CCDS32146.1	ENSP00000335615	Q9P203		UPI00001FDA78	NM_001002860.3			11/11		hmmpanther:PTHR16064																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	29	93242548	93242548	C	-	1	0	1	0	1	0	0	0	0	1722	739	26	0		0	BTBD7	14	93242548	Frame_Shift_Del	DEL	C	C3L-01924_TP	4674511	93242548	13801170	448	8763											
GSC	0	.	GRCh38	chr14	94769990	94769990	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggcggctaggatgttgTcgatgctgaacatgctggcg	6	9	17	9	4	0	1	0	1	0	0	1	3	0	2	1	4	3	4	1	4	2	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.26A>T	p.Asp9Val	p.D9V	ENST00000238558	1/3	125	110	15	136	136	0	strelka-varscan-mutect	GSC,missense_variant,p.Asp9Val,ENST00000238558,NM_173849.2;	A	ENST00000238558	Transcript	missense_variant	241/1264	26/774	9/257	D/V	gAc/gTc		1		-1	GSC	HGNC	HGNC:4612	protein_coding	YES	CCDS9930.1	ENSP00000238558	P56915		UPI000000D86A	NM_173849.2	deleterious_low_confidence(0)		1/3		hmmpanther:PTHR24329:SF275,hmmpanther:PTHR24329																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	94769990	94769990	T	A	1	0	0	0	0	1	0	0	0	6696	1667	58	4		4	GSC	14	94769990	Missense_Mutation	SNP	T	C3L-01924_TP	1527442	94769990	12273728	449	8764											
RTL1	0	.	GRCh38	chr14	100882119	100882119	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggtcgtcgatttggatCagggaggcgtgcagggccgt	5	11	18	7	4	1	0	1	0	0	0	3	3	1	2	1	5	1	2	1	5	0	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2670G>T	p.=	p.L890L	ENST00000534062	1/1	130	105	25	187	186	1	strelka-varscan-mutect	RTL1,synonymous_variant,p.=,ENST00000534062,NM_001134888.2;MEG8,intron_variant,,ENST00000637474,;MIR431,downstream_gene_variant,,ENST00000385266,;MIR127,upstream_gene_variant,,ENST00000384876,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR433,downstream_gene_variant,,ENST00000384837,;MIR136,upstream_gene_variant,,ENST00000385207,;	A	ENST00000534062	Transcript	synonymous_variant	2729/4193	2670/4077	890/1358	L	ctG/ctT		1		-1	RTL1	HGNC	HGNC:14665	protein_coding	YES	CCDS53910.1	ENSP00000435342	A6NKG5		UPI00001D7B9E	NM_001134888.2			1/1		hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF9,Superfamily_domains:SSF56672																	LOW	1	SNV				1										PASS		rs1299749614	.												A	2	1	29	100882119	100882119	C	A	1	0	0	0	0	0	0	0	1	13984	813	29	2		2	RTL1	14	100882119	Silent	SNP	C	C3L-01924_TP	6112129	100882119	6161599	450	8765											
RCOR1	0	.	GRCh38	chr14	102722274	102722274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgaaaaacttttttgtaaAttatcgacgccgcttcaaca	14	13	6	8	3	1	1	1	1	0	0	2	2	1	1	1	0	2	2	1	0	6	6	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.1277A>G	p.Asn426Ser	p.N426S	ENST00000262241	11/12	252	164	88	292	292	0	strelka-varscan-mutect	RCOR1,missense_variant,p.Asn426Ser,ENST00000262241,NM_015156.3;RCOR1,3_prime_UTR_variant,,ENST00000560472,;RCOR1,downstream_gene_variant,,ENST00000559597,;	G	ENST00000262241	Transcript	missense_variant	1503/5754	1277/1458	426/485	N/S	aAt/aGt		1		1	RCOR1	HGNC	HGNC:17441	protein_coding	YES	CCDS9974.2	ENSP00000262241		J3KN32	UPI0000D6A053	NM_015156.3	tolerated(0.2)		11/12		Gene3D:1.10.10.60,Pfam_domain:PF00249,PROSITE_profiles:PS51293,hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF11,SMART_domains:SM00717,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	102722274	102722274	A	G	1	0	0	0	0	1	0	0	0	13352	101	4	5		5	RCOR1	14	102722274	Missense_Mutation	SNP	A	C3L-01924_TP	1840155	102722274	4321444	451	8766											
AHNAK2	0	.	GRCh38	chr14	104943923	104943923	+	Missense_Mutation	SNP	T	T	G																															cagtggtcttgaggtcccccTgcatggaggggagactcaca																								novel		C3L-01924_TP	C3L-01924_NB	T	T																c.11528A>C	p.Gln3843Pro	p.Q3843P	ENST00000333244	7/7	360	324	36	393	392	1	strelka-varscan-mutect	AHNAK2,missense_variant,p.Gln3843Pro,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	G	ENST00000333244	Transcript	missense_variant	11648/18254	11528/17388	3843/5795	Q/P	cAg/cCg		1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	tolerated(0.21)		7/7		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	29	104943923	104943923	T	G	1	0	0	0	0	1	0	0	0	492	1580	55	5		5	AHNAK2	14	104943923	Missense_Mutation	SNP	T	C3L-01924_TP	2221649	104943923	2099795	452	8767	199	2									
AHNAK2	0	.	GRCh38	chr14	104943925	104943925	+	Missense_Mutation	SNP	C	C	A																															gtggtcttgaggtccccctgCatggaggggagactcacatc																								novel		C3L-01924_TP	C3L-01924_NB	C	C																c.11526G>T	p.Met3842Ile	p.M3842I	ENST00000333244	7/7	358	322	36	393	392	1	strelka-varscan-mutect	AHNAK2,missense_variant,p.Met3842Ile,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	A	ENST00000333244	Transcript	missense_variant	11646/18254	11526/17388	3842/5795	M/I	atG/atT		1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	tolerated(0.59)		7/7		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	104943925	104943925	C	A	1	0	0	0	0	1	0	0	0	492	710	25	2		2	AHNAK2	14	104943925	Missense_Mutation	SNP	C	C3L-01924_TP	2	104943925	2099793	453	8768	199	2									
GOLGA6L6	0	.	GRCh38	chr15	20535111	20535111	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgcctcttctcctcctcCcgtatcttctcctgctcatg	2	16	4	19	1	5	0	1	0	4	0	10	0	8	0	6	0	2	2	6	0	1	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1323G>C	p.=	p.R441R	ENST00000619213	8/9	112	105	7	169	169	0	varscan-mutect	GOLGA6L6,synonymous_variant,p.=,ENST00000619213,NM_001145004.2;	G	ENST00000619213	Transcript	synonymous_variant	1414/4013	1323/2175	441/724	R	cgG/cgC		1		-1	GOLGA6L6	HGNC	HGNC:37225	protein_coding	YES	CCDS45184.1	ENSP00000480376	A8MZA4	A0A087WWN6	UPI000442CF04	NM_001145004.2			8/9		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	29	20535111	20535111	C	G	1	0	0	0	0	0	0	0	1	6442	610	22	4		4	GOLGA6L6	15	20535111	Silent	SNP	C	C3L-01924_TP		20535111	81456078	454	8769											
NPAP1	0	.	GRCh38	chr15	24677569	24677569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgcccacctaacctcaCagactgcggtagaccctgaa	11	7	7	16	1	2	3	1	1	1	2	2	3	2	3	4	1	3	1	4	1	3	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1702C>A	p.Gln568Lys	p.Q568K	ENST00000329468	1/1	230	165	65	305	305	0	strelka-varscan-mutect	NPAP1,missense_variant,p.Gln568Lys,ENST00000329468,NM_018958.2;	A	ENST00000329468	Transcript	missense_variant	1702/7526	1702/3471	568/1156	Q/K	Cag/Aag		1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2	tolerated(0.35)		1/1																			MODERATE	1	SNV				1										PASS		.	.												A	3	1	29	24677569	24677569	C	A	1	0	0	0	0	1	0	0	0	10609	479	17	2		2	NPAP1	15	24677569	Missense_Mutation	SNP	C	C3L-01924_TP	4142458	24677569	77313620	455	8770											
GABRA5	0	.	GRCh38	chr15	26937213	26937213	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctaattctgaagtcgtttaCgtctggaccaacggctccac	9	11	8	13	3	2	1	0	1	2	0	4	2	3	2	3	2	2	2	3	2	4	4	rs751197696		C3L-01924_TP	C3L-01924_NB	C	C																c.609C>G	p.Tyr203Ter	p.Y203*	ENST00000335625	8/11	226	180	46	259	259	0	strelka-varscan-mutect	GABRA5,stop_gained,p.Tyr203Ter,ENST00000335625,NM_000810.3;GABRA5,stop_gained,p.Tyr203Ter,ENST00000400081,NM_001165037.1;GABRA5,stop_gained,p.Tyr203Ter,ENST00000355395,;GABRB3,intron_variant,,ENST00000541819,;GABRA5,downstream_gene_variant,,ENST00000555182,;	G	ENST00000335625	Transcript	stop_gained	1497/3251	609/1389	203/462	Y/*	taC/taG	rs751197696,COSM2083013	1		1	GABRA5	HGNC	HGNC:4079	protein_coding	YES	CCDS45194.1	ENSP00000335592	P31644		UPI000002D731	NM_000810.3			8/11		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,TIGRFAM_domain:TIGR00860											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs751197696	.												G	4	3	29	26937213	26937213	C	G	1	0	0	0	0	0	1	0	0	6035	547	19	4		4	GABRA5	15	26937213	Nonsense_Mutation	SNP	C	C3L-01924_TP	2259644	26937213	75053976	456	8771											
CHRNA7	0	.	GRCh38	chr15	32157645	32157645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctacatcgatgtacgctgGtttccctttgatgtgcagca	7	14	10	10	2	0	1	0	1	0	0	2	2	1	1	1	1	5	6	1	1	2	4	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.555G>T	p.Trp185Cys	p.W185C	ENST00000454250	6/10	139	106	33	165	165	0	strelka-varscan-mutect	CHRNA7,missense_variant,p.Trp156Cys,ENST00000306901,NM_000746.5;CHRNA7,missense_variant,p.Trp94Cys,ENST00000637033,;CHRNA7,missense_variant,p.Trp77Cys,ENST00000637183,;CHRNA7,missense_variant,p.Trp185Cys,ENST00000454250,NM_001190455.2;CHRNA7,missense_variant,p.Trp94Cys,ENST00000636603,;CHRNA7,missense_variant,p.Trp94Cys,ENST00000635884,;CHRNA7,missense_variant,p.Trp156Cys,ENST00000637552,;CHRNA7,missense_variant,p.Trp77Cys,ENST00000635978,;CHRNA7,missense_variant,p.Trp163Cys,ENST00000636440,;CHRNA7,missense_variant,p.Trp12Cys,ENST00000638081,;CHRNA7,5_prime_UTR_variant,,ENST00000638106,;CHRNA7,upstream_gene_variant,,ENST00000637348,;CHRNA7,upstream_gene_variant,,ENST00000635883,;CHRNA7,non_coding_transcript_exon_variant,,ENST00000636245,;CHRNA7,non_coding_transcript_exon_variant,,ENST00000636957,;CHRNA7,missense_variant,p.Gly171Val,ENST00000637350,;CHRNA7,missense_variant,p.Trp104Cys,ENST00000636271,;CHRNA7,missense_variant,p.Gly93Val,ENST00000437966,;CHRNA7,missense_variant,p.Val130Phe,ENST00000636044,;CHRNA7,3_prime_UTR_variant,,ENST00000637519,;CHRNA7,3_prime_UTR_variant,,ENST00000637971,;CHRNA7,3_prime_UTR_variant,,ENST00000638031,;CHRNA7,3_prime_UTR_variant,,ENST00000635722,;CHRNA7,3_prime_UTR_variant,,ENST00000636850,;CHRNA7,non_coding_transcript_exon_variant,,ENST00000636709,;CHRNA7,non_coding_transcript_exon_variant,,ENST00000637189,;CHRNA7,non_coding_transcript_exon_variant,,ENST00000636292,;CHRNA7,non_coding_transcript_exon_variant,,ENST00000636898,;CHRNA7,non_coding_transcript_exon_variant,,ENST00000636647,;CHRNA7,non_coding_transcript_exon_variant,,ENST00000636521,;CHRNA7,upstream_gene_variant,,ENST00000637649,;	T	ENST00000454250	Transcript	missense_variant	662/2093	555/1596	185/531	W/C	tgG/tgT		1		1	CHRNA7	HGNC	HGNC:1960	protein_coding	YES	CCDS53924.1	ENSP00000407546	P36544		UPI0000E23BA6	NM_001190455.2	deleterious(0)		6/10		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF572,PROSITE_patterns:PS00236,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932,Prints_domain:PR00252																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	29	32157645	32157645	G	T	1	0	0	0	0	1	0	0	0	3148	1270	44	2		2	CHRNA7	15	32157645	Missense_Mutation	SNP	G	C3L-01924_TP	5220432	32157645	69833544	457	8772											
ACTC1	0	.	GRCh38	chr15	34794746	34794746	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcatcgcccgcaaagccGgccttcaccagcccagagcc	8	4	10	19	4	2	1	2	0	0	1	3	1	2	1	6	1	3	1	6	1	1	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.63C>A	p.=	p.A21A	ENST00000290378	2/7	133	115	18	122	122	0	strelka-varscan-mutect	ACTC1,synonymous_variant,p.=,ENST00000290378,NM_005159.4;RP11-814P5.1,intron_variant,,ENST00000503496,;RP11-814P5.1,downstream_gene_variant,,ENST00000558707,;ACTC1,upstream_gene_variant,,ENST00000557860,;ACTC1,upstream_gene_variant,,ENST00000560563,;	T	ENST00000290378	Transcript	synonymous_variant	719/4106	63/1134	21/377	A	gcC/gcA		1		-1	ACTC1	HGNC	HGNC:143	protein_coding	YES	CCDS10041.1	ENSP00000290378	P68032		UPI0000003F15	NM_005159.4			2/7		Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF238,SMART_domains:SM00268,Superfamily_domains:SSF53067																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	34794746	34794746	G	T	1	0	0	0	0	0	0	0	1	238	1103	39	1		1	ACTC1	15	34794746	Silent	SNP	G	C3L-01924_TP	2637101	34794746	67196443	458	8773											
EIF2AK4	0	.	GRCh38	chr15	39998780	39998780	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacgatggagagcatgcaaAgcaggtaattttctgatgcg	12	10	13	6	2	1	3	0	2	1	1	1	5	1	3	0	2	4	4	0	2	2	3	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.2918A>T	p.Lys973Met	p.K973M	ENST00000263791	20/39	209	165	44	228	228	0	strelka-varscan-mutect	EIF2AK4,missense_variant,p.Lys973Met,ENST00000263791,NM_001013703.3;EIF2AK4,missense_variant,p.Lys751Met,ENST00000560855,;EIF2AK4,upstream_gene_variant,,ENST00000559311,;EIF2AK4,non_coding_transcript_exon_variant,,ENST00000558629,;EIF2AK4,upstream_gene_variant,,ENST00000558557,;	T	ENST00000263791	Transcript	missense_variant	2961/5499	2918/4950	973/1649	K/M	aAg/aTg		1		1	EIF2AK4	HGNC	HGNC:19687	protein_coding	YES	CCDS42016.1	ENSP00000263791	Q9P2K8		UPI0000160791	NM_001013703.3	deleterious(0.03)		20/39		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF90,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	29	39998780	39998780	A	T	1	0	0	0	0	1	0	0	0	4835	86	3	4		4	EIF2AK4	15	39998780	Missense_Mutation	SNP	A	C3L-01924_TP	5204034	39998780	61992409	459	8774											
SPINT1	0	.	GRCh38	chr15	40844738	40844738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccggggtgcctggcttcGtgctggacaccaacgcctcg	4	7	14	16	5	0	0	0	0	0	0	2	1	0	1	5	4	3	2	5	4	1	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.184G>T	p.Val62Leu	p.V62L	ENST00000344051	2/11	125	86	39	157	157	0	strelka-varscan-mutect	SPINT1,missense_variant,p.Val62Leu,ENST00000344051,NM_181642.2;SPINT1,missense_variant,p.Val62Leu,ENST00000562057,NM_003710.3,NM_001032367.1;SPINT1,missense_variant,p.Val22Leu,ENST00000568580,;SPINT1,missense_variant,p.Val62Leu,ENST00000563656,;SPINT1,missense_variant,p.Val124Leu,ENST00000568823,;RP11-532F12.5,upstream_gene_variant,,ENST00000564302,;RP11-532F12.5,upstream_gene_variant,,ENST00000565315,;RP11-532F12.5,upstream_gene_variant,,ENST00000568419,;RP11-532F12.5,upstream_gene_variant,,ENST00000568525,;RP11-532F12.5,upstream_gene_variant,,ENST00000563217,;	T	ENST00000344051	Transcript	missense_variant	418/3056	184/1590	62/529	V/L	Gtg/Ttg		1		1	SPINT1	HGNC	HGNC:11246	protein_coding	YES	CCDS10067.1	ENSP00000342098	O43278		UPI00001AE46F	NM_181642.2	deleterious(0)		2/11		PROSITE_profiles:PS50986,hmmpanther:PTHR10083:SF231,hmmpanther:PTHR10083,Pfam_domain:PF07502,SMART_domains:SM00765																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	40844738	40844738	G	T	1	0	0	0	0	1	0	0	0	15420	1145	40	1		1	SPINT1	15	40844738	Missense_Mutation	SNP	G	C3L-01924_TP	845958	40844738	61146451	460	8775											
ZNF106	0	.	GRCh38	chr15	42450315	42450315	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctagaagtcttcaggatgcGgtcatcctcctctttctcat	7	15	7	12	1	6	1	3	0	4	1	9	2	8	2	2	2	1	0	2	2	2	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1888C>G	p.Arg630Gly	p.R630G	ENST00000263805	2/19	171	158	13	208	208	0	strelka-varscan-mutect	ZNF106,missense_variant,p.Arg630Gly,ENST00000263805,NM_022473.2;ZNF106,missense_variant,p.Arg413Gly,ENST00000565948,;ZNF106,intron_variant,,ENST00000565380,NM_001284307.1;ZNF106,intron_variant,,ENST00000565611,NM_001284306.1;ZNF106,upstream_gene_variant,,ENST00000565500,;ZNF106,downstream_gene_variant,,ENST00000564754,;ZNF106,upstream_gene_variant,,ENST00000567772,;ZNF106,downstream_gene_variant,,ENST00000567041,;	C	ENST00000263805	Transcript	missense_variant	2215/10460	1888/5652	630/1883	R/G	Cgc/Ggc		1		-1	ZNF106	HGNC	HGNC:12886	protein_coding	YES	CCDS32208.1	ENSP00000263805	Q9H2Y7		UPI000006D6CC	NM_022473.2	tolerated(0.14)		2/19		hmmpanther:PTHR14435																	MODERATE	1	SNV	1			1										PASS		rs1186725179	.												C	3	2	29	42450315	42450315	G	C	1	0	0	0	0	1	0	0	0	18294	1116	39	4		4	ZNF106	15	42450315	Missense_Mutation	SNP	G	C3L-01924_TP	1605577	42450315	59540874	461	8776											
RORA	0	.	GRCh38	chr15	60511239	60511239	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattacctaattctgccatGgacacagttggggaagtctc	10	11	9	11	0	2	0	0	0	2	0	3	2	2	2	3	3	2	1	3	3	3	4	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.906C>T	p.=	p.S302S	ENST00000261523	6/12	73	65	8	105	105	0	strelka-varscan-mutect	RORA,synonymous_variant,p.=,ENST00000335670,NM_134261.2;RORA,synonymous_variant,p.=,ENST00000261523,NM_134260.2;RORA,synonymous_variant,p.=,ENST00000309157,NM_002943.3;RORA,synonymous_variant,p.=,ENST00000449337,NM_134262.2;RORA,downstream_gene_variant,,ENST00000559343,;RORA-AS1,intron_variant,,ENST00000558140,;RORA-AS1,intron_variant,,ENST00000501579,;RORA-AS1,intron_variant,,ENST00000559824,;RORA-AS1,intron_variant,,ENST00000559902,;RORA-AS1,intron_variant,,ENST00000558235,;RORA,non_coding_transcript_exon_variant,,ENST00000559587,;RORA,downstream_gene_variant,,ENST00000560004,;RORA,downstream_gene_variant,,ENST00000551975,;	A	ENST00000261523	Transcript	synonymous_variant	995/1951	906/1671	302/556	S	tcC/tcT		1		-1	RORA	HGNC	HGNC:10258	protein_coding	YES	CCDS10179.1	ENSP00000261523	P35398		UPI0000134548	NM_134260.2			6/12		Prints_domain:PR01293,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF318																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	29	60511239	60511239	G	A	1	0	0	0	0	0	0	0	1	13705	1335	47	3		3	RORA	15	60511239	Silent	SNP	G	C3L-01924_TP	18060924	60511239	41479950	462	8777											
SNX22	0	.	GRCh38	chr15	64153678	64153678	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggagttcctgcctggcgAcagcaggcaagtcaaagccc	10	5	14	12	1	1	0	1	0	0	0	2	3	2	1	3	3	3	3	3	3	2	1	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.386A>G	p.Asp129Gly	p.D129G	ENST00000325881	5/7	224	190	34	264	264	0	strelka-varscan-mutect	SNX22,missense_variant,p.Asp129Gly,ENST00000325881,NM_024798.2;PPIB,downstream_gene_variant,,ENST00000300026,NM_000942.4;PPIB,downstream_gene_variant,,ENST00000558492,;SNX22,3_prime_UTR_variant,,ENST00000558466,;SNX22,non_coding_transcript_exon_variant,,ENST00000557789,;SNX22,non_coding_transcript_exon_variant,,ENST00000560997,;SNX22,non_coding_transcript_exon_variant,,ENST00000561334,;SNX22,non_coding_transcript_exon_variant,,ENST00000560945,;SNX22,non_coding_transcript_exon_variant,,ENST00000560607,;	G	ENST00000325881	Transcript	missense_variant	445/3614	386/582	129/193	D/G	gAc/gGc		1		1	SNX22	HGNC	HGNC:16315	protein_coding	YES	CCDS10190.1	ENSP00000323435	Q96L94	A0A024R5Y5	UPI0000135B52	NM_024798.2	tolerated(0.06)		5/7		hmmpanther:PTHR15813:SF8,hmmpanther:PTHR15813																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	64153678	64153678	A	G	1	0	0	0	0	1	0	0	0	15215	275	10	5		5	SNX22	15	64153678	Missense_Mutation	SNP	A	C3L-01924_TP	3642439	64153678	37837511	463	8778											
KBTBD13	0	.	GRCh38	chr15	65077507	65077507	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtagagctgggcttctgctAcgaccccgacggcggcacgt	6	7	15	13	5	1	1	0	0	1	1	1	3	1	1	2	4	3	5	2	4	2	3	rs746972923		C3L-01924_TP	C3L-01924_NB	A	A																c.692A>T	p.Tyr231Phe	p.Y231F	ENST00000432196	1/1	46	41	5	51	51	0	strelka-varscan-mutect	KBTBD13,missense_variant,p.Tyr231Phe,ENST00000432196,NM_001101362.2;RASL12,upstream_gene_variant,,ENST00000434605,;	T	ENST00000432196	Transcript	missense_variant	692/1377	692/1377	231/458	Y/F	tAc/tTc	rs746972923	1		1	KBTBD13	HGNC	HGNC:37227	protein_coding	YES	CCDS45281.1	ENSP00000388723	C9JR72		UPI0000161560	NM_001101362.2	deleterious(0.03)		1/1		hmmpanther:PTHR24412:SF57,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1zgkA00,SMART_domains:SM00612,Superfamily_domains:0052715																	MODERATE	1	SNV				1										PASS		rs746972923	.												T	3	4	29	65077507	65077507	A	T	1	0	0	0	0	1	0	0	0	7909	391	14	4		4	KBTBD13	15	65077507	Missense_Mutation	SNP	A	C3L-01924_TP	923829	65077507	36913682	464	8779											
ITGA11	0	.	GRCh38	chr15	68320337	68320337	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtggtgtcgaaggacaGcgtgtatgcggagcagtcct	8	9	16	8	3	0	0	0	0	0	0	2	4	1	2	1	3	3	2	1	3	2	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2464C>G	p.Leu822Val	p.L822V	ENST00000315757	20/30	179	154	25	209	209	0	strelka-varscan-mutect	ITGA11,missense_variant,p.Leu822Val,ENST00000423218,;ITGA11,missense_variant,p.Leu822Val,ENST00000315757,NM_001004439.1;	C	ENST00000315757	Transcript	missense_variant	2560/3955	2464/3567	822/1188	L/V	Ctg/Gtg		1		-1	ITGA11	HGNC	HGNC:6136	protein_coding	YES	CCDS45291.1	ENSP00000327290	Q9UKX5		UPI00001FE74D	NM_001004439.1	tolerated(0.42)		20/30		hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF21,Gene3D:2.60.40.1510,Pfam_domain:PF08441																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	68320337	68320337	G	C	1	0	0	0	0	1	0	0	0	7781	962	34	4		4	ITGA11	15	68320337	Missense_Mutation	SNP	G	C3L-01924_TP	3242830	68320337	33670852	465	8780											
LOXL1	0	.	GRCh38	chr15	73946494	73946494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagcgcgtgaagaaccaggGcacagcagacttcctcccca	11	4	10	16	2	0	3	0	1	0	2	2	3	2	3	5	1	3	2	5	1	2	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1289G>T	p.Gly430Val	p.G430V	ENST00000261921	3/7	170	144	26	203	203	0	strelka-varscan-mutect	LOXL1,missense_variant,p.Gly430Val,ENST00000261921,NM_005576.2;LOXL1,upstream_gene_variant,,ENST00000567675,;LOXL1,3_prime_UTR_variant,,ENST00000566011,;LOXL1,non_coding_transcript_exon_variant,,ENST00000566530,;LOXL1,upstream_gene_variant,,ENST00000562548,;	T	ENST00000261921	Transcript	missense_variant	1615/2351	1289/1725	430/574	G/V	gGc/gTc		1		1	LOXL1	HGNC	HGNC:6665	protein_coding	YES	CCDS10253.1	ENSP00000261921	Q08397		UPI000013D224	NM_005576.2	deleterious(0)		3/7		hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF4,Pfam_domain:PF01186,Prints_domain:PR00074																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	73946494	73946494	G	T	1	0	0	0	0	1	0	0	0	8802	1203	42	2		2	LOXL1	15	73946494	Missense_Mutation	SNP	G	C3L-01924_TP	5626157	73946494	28044695	466	8781											
GOLGA6A	0	.	GRCh38	chr15	74074926	74074926	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccttccacctcctgcCtcaggtgtttggcctcatct	5	12	7	17	0	3	1	2	0	1	1	5	1	5	1	7	2	1	1	7	2	0	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.923G>T	p.Arg308Met	p.R308M	ENST00000290438	11/18	129	122	7	164	164	0	varscan-mutect	GOLGA6A,missense_variant,p.Arg308Met,ENST00000290438,NM_001038640.2;RN7SL429P,upstream_gene_variant,,ENST00000479090,;GOLGA6A,upstream_gene_variant,,ENST00000562157,;GOLGA6A,downstream_gene_variant,,ENST00000568723,;GOLGA6A,upstream_gene_variant,,ENST00000569486,;	A	ENST00000290438	Transcript	missense_variant	964/3176	923/2082	308/693	R/M	aGg/aTg		1		-1	GOLGA6A	HGNC	HGNC:13567	protein_coding	YES	CCDS32290.1	ENSP00000290438	Q9NYA3		UPI00001AEB5B	NM_001038640.2	deleterious(0)		11/18		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15070,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF47																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	74074926	74074926	C	A	1	0	0	0	0	1	0	0	0	6435	681	24	2		2	GOLGA6A	15	74074926	Missense_Mutation	SNP	C	C3L-01924_TP	128432	74074926	27916263	467	8782											
HYKK	0	.	GRCh38	chr15	78513397	78513397	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgtgtcacactaaaggAgacaacacagcttctctcgt	11	11	8	11	1	3	1	1	0	2	1	5	2	3	1	0	1	2	1	0	1	3	2	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.309A>G	p.=	p.G103G	ENST00000569878	1/4	118	110	8	170	170	0	strelka-varscan-mutect	HYKK,synonymous_variant,p.=,ENST00000569878,;HYKK,synonymous_variant,p.=,ENST00000566332,;HYKK,synonymous_variant,p.=,ENST00000388988,NM_001013619.2;HYKK,synonymous_variant,p.=,ENST00000408962,NM_001083612.1;HYKK,synonymous_variant,p.=,ENST00000563233,;HYKK,synonymous_variant,p.=,ENST00000566289,;	G	ENST00000569878	Transcript	synonymous_variant	309/4097	309/1122	103/373	G	ggA/ggG		1		1	HYKK	HGNC	HGNC:34403	protein_coding	YES	CCDS42063.1	ENSP00000455459	A2RU49		UPI0000366A7F				1/4		Pfam_domain:PF01636,hmmpanther:PTHR21064,hmmpanther:PTHR21064:SF1,Superfamily_domains:SSF56112																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	29	78513397	78513397	A	G	1	0	0	0	0	0	0	0	1	7365	291	11	5		5	HYKK	15	78513397	Silent	SNP	A	C3L-01924_TP	4438471	78513397	23477792	468	8783											
CHRNA3	0	.	GRCh38	chr15	78602124	78602124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaaccgaacttcatggtaCagttttggtaatcaaacggg	13	10	11	7	2	2	0	2	0	0	0	2	2	2	1	1	4	4	3	1	4	5	5	rs555968931		C3L-01924_TP	C3L-01924_NB	C	C																c.518G>C	p.Cys173Ser	p.C173S	ENST00000326828	5/6	190	165	25	230	230	0	strelka-varscan-mutect	CHRNA3,missense_variant,p.Cys173Ser,ENST00000326828,NM_000743.4;CHRNA3,missense_variant,p.Cys173Ser,ENST00000348639,NM_001166694.1;CHRNA3,non_coding_transcript_exon_variant,,ENST00000558903,;RP11-335K5.3,upstream_gene_variant,,ENST00000624172,;CHRNA3,missense_variant,p.Cys173Ser,ENST00000559658,;	G	ENST00000326828	Transcript	missense_variant	903/3202	518/1518	173/505	C/S	tGt/tCt	rs555968931	1		-1	CHRNA3	HGNC	HGNC:1957	protein_coding	YES	CCDS10305.1	ENSP00000315602	P32297		UPI000013D783	NM_000743.4	deleterious(0)		5/6		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF445,PROSITE_patterns:PS00236,Pfam_domain:PF02931,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR00252																	MODERATE	1	SNV	1			1										PASS		rs555968931	.												G	3	3	29	78602124	78602124	C	G	1	0	0	0	0	1	0	0	0	3144	478	17	4		4	CHRNA3	15	78602124	Missense_Mutation	SNP	C	C3L-01924_TP	88727	78602124	23389065	469	8784											
SAXO2	0	.	GRCh38	chr15	82271802	82271802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactgtcccaacctataaaGgtaacttgctgtttcataca	13	12	5	11	0	1	0	1	0	0	0	2	0	2	0	2	1	4	3	2	1	6	6	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.253G>T	p.Asp85Tyr	p.D85Y	ENST00000339465	2/3	120	101	19	170	170	0	varscan-mutect	SAXO2,missense_variant,p.Asp85Tyr,ENST00000339465,NM_001008226.1;SAXO2,missense_variant,p.Gly98Cys,ENST00000565432,;SAXO2,splice_region_variant,,ENST00000565501,;	T	ENST00000339465	Transcript	missense_variant,splice_region_variant	322/3134	253/1197	85/398	D/Y	Gac/Tac		1		1	SAXO2	HGNC	HGNC:33727	protein_coding	YES	CCDS32310.1	ENSP00000340445	Q658L1		UPI00001D779A	NM_001008226.1	deleterious(0)		2/3		hmmpanther:PTHR31516:SF6,hmmpanther:PTHR31516																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	82271802	82271802	G	T	1	0	0	0	0	1	0	0	0	14119	1014	35	2		2	SAXO2	15	82271802	Missense_Mutation	SNP	G	C3L-01924_TP	3669678	82271802	19719387	470	8785											
ADAMTSL3	0	.	GRCh38	chr15	83892713	83892713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	taatccttggactgcatgttCcgtgtcctgtggaggaggga	7	12	14	8	1	0	0	0	0	0	0	3	4	3	4	3	4	1	2	3	4	1	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1292C>G	p.Ser431Cys	p.S431C	ENST00000286744	13/30	218	171	47	340	340	0	strelka-varscan-mutect	ADAMTSL3,missense_variant,p.Ser431Cys,ENST00000286744,NM_207517.2;ADAMTSL3,missense_variant,p.Ser431Cys,ENST00000567476,NM_001301110.1;ADAMTSL3,downstream_gene_variant,,ENST00000567663,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,;	G	ENST00000286744	Transcript	missense_variant	1516/7336	1292/5076	431/1691	S/C	tCc/tGc		1		1	ADAMTSL3	HGNC	HGNC:14633	protein_coding	YES	CCDS10326.1	ENSP00000286744	P82987		UPI00001615A5	NM_207517.2	deleterious(0)		13/30		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF169,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	83892713	83892713	C	G	1	0	0	0	0	1	0	0	0	320	855	30	4		4	ADAMTSL3	15	83892713	Missense_Mutation	SNP	C	C3L-01924_TP	1620911	83892713	18098476	471	8786											
ACAN	0	.	GRCh38	chr15	88856853	88856853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaagttctagagactactgCccctggagtagatgagatca	13	9	11	8	0	2	4	1	1	1	4	2	7	2	5	2	1	2	2	2	1	4	4	rs759176877		C3L-01924_TP	C3L-01924_NB	C	C																c.4268C>A	p.Ala1423Asp	p.A1423D	ENST00000439576	12/18	376	309	67	497	497	0	strelka-varscan-mutect	ACAN,missense_variant,p.Ala1423Asp,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Ala1404Asp,ENST00000617301,;ACAN,missense_variant,p.Ala1423Asp,ENST00000559004,;ACAN,missense_variant,p.Ala1423Asp,ENST00000561243,;ACAN,missense_variant,p.Ala1423Asp,ENST00000352105,NM_001135.3;ACAN,upstream_gene_variant,,ENST00000560601,;	A	ENST00000439576	Transcript	missense_variant	4642/8840	4268/7593	1423/2530	A/D	gCc/gAc	rs759176877	1		1	ACAN	HGNC	HGNC:319	protein_coding	YES	CCDS53970.1	ENSP00000387356		E7EX88	UPI0001B23381	NM_013227.3	tolerated(0.21)		12/18		hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804																	MODERATE	1	SNV	5			1										PASS		rs759176877	.												A	3	1	29	88856853	88856853	C	A	1	0	0	0	0	1	0	0	0	160	739	26	2		2	ACAN	15	88856853	Missense_Mutation	SNP	C	C3L-01924_TP	4964140	88856853	13134336	472	8787											
PIGQ	0	.	GRCh38	chr16	574625	574625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtgaccgctttgatgaggGccccgtgcggctgagccact	6	8	14	13	3	0	4	0	4	0	0	0	4	0	4	4	2	2	2	4	2	0	1	rs755768099		C3L-01924_TP	C3L-01924_NB	G	G																c.551G>T	p.Gly184Val	p.G184V	ENST00000026218	2/10	149	138	11	128	128	0	strelka-varscan-mutect	PIGQ,missense_variant,p.Gly184Val,ENST00000321878,NM_004204.3;PIGQ,missense_variant,p.Gly184Val,ENST00000026218,NM_148920.2;PIGQ,missense_variant,p.Gly184Val,ENST00000470411,;PIGQ,missense_variant,p.Gly184Val,ENST00000422307,;PIGQ,missense_variant,p.Gly184Val,ENST00000409527,;PIGQ,upstream_gene_variant,,ENST00000540241,;PIGQ,downstream_gene_variant,,ENST00000293874,;PIGQ,downstream_gene_variant,,ENST00000439574,;LA16c-407A10.3,non_coding_transcript_exon_variant,,ENST00000635107,;LA16c-407A10.3,non_coding_transcript_exon_variant,,ENST00000409439,;PIGQ,upstream_gene_variant,,ENST00000635935,;PIGQ,upstream_gene_variant,,ENST00000544860,;PIGQ,downstream_gene_variant,,ENST00000637701,;PIGQ,missense_variant,p.Gly198Val,ENST00000443147,;PIGQ,3_prime_UTR_variant,,ENST00000636657,;PIGQ,intron_variant,,ENST00000635909,;PIGQ,upstream_gene_variant,,ENST00000480424,;PIGQ,upstream_gene_variant,,ENST00000636005,;PIGQ,upstream_gene_variant,,ENST00000635205,;PIGQ,upstream_gene_variant,,ENST00000420990,;PIGQ,upstream_gene_variant,,ENST00000637468,;PIGQ,upstream_gene_variant,,ENST00000638143,;PIGQ,upstream_gene_variant,,ENST00000537901,;	T	ENST00000026218	Transcript	missense_variant	639/2846	551/2283	184/760	G/V	gGc/gTc	rs755768099	1		1	PIGQ	HGNC	HGNC:14135	protein_coding	YES	CCDS10411.1	ENSP00000026218	Q9BRB3		UPI000006CC88	NM_148920.2	deleterious_low_confidence(0.03)		2/10		hmmpanther:PTHR21329,hmmpanther:PTHR21329:SF3																	MODERATE	1	SNV	1			1										PASS		rs755768099	.												T	3	4	29	574625	574625	G	T	1	0	0	0	0	1	0	0	0	11990	1203	42	2		2	PIGQ	16	574625	Missense_Mutation	SNP	G	C3L-01924_TP		574625	89763720	473	8788											
SOX8	0	.	GRCh38	chr16	983873	983873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgactccgactcgggcGcggagctgggaccccaccct	7	4	13	17	5	0	0	0	0	0	0	2	4	1	2	4	3	2	1	4	3	0	0			C3L-01924_TP	C3L-01924_NB	G	G																c.568G>A	p.Ala190Thr	p.A190T	ENST00000293894	2/3	106	99	7	89	89	0	strelka-varscan-mutect	SOX8,missense_variant,p.Ala190Thr,ENST00000293894,NM_014587.4;LMF1,upstream_gene_variant,,ENST00000570014,;RP11-161M6.2,upstream_gene_variant,,ENST00000565467,;RP11-161M6.2,upstream_gene_variant,,ENST00000568394,;RP11-161M6.2,upstream_gene_variant,,ENST00000562570,;RP11-161M6.2,upstream_gene_variant,,ENST00000563863,;RP11-161M6.2,upstream_gene_variant,,ENST00000565069,;RP11-161M6.2,upstream_gene_variant,,ENST00000563837,;SOX8,non_coding_transcript_exon_variant,,ENST00000566034,;LMF1,upstream_gene_variant,,ENST00000545827,;	A	ENST00000293894	Transcript	missense_variant	683/3049	568/1341	190/446	A/T	Gcg/Acg	COSM1380647	1		1	SOX8	HGNC	HGNC:11203	protein_coding	YES	CCDS10428.1	ENSP00000293894	P57073		UPI00000015FB	NM_014587.4	tolerated(0.4)		2/3		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF20											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	29	983873	983873	G	A	1	0	0	0	0	1	0	0	0	15283	1087	38	1		1	SOX8	16	983873	Missense_Mutation	SNP	G	C3L-01924_TP	409248	983873	89354472	474	8789											
CASKIN1	0	.	GRCh38	chr16	2189319	2189319	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacgggttagactggtgctgTagcagcatctcagactgggg	8	9	15	9	1	1	2	1	0	1	2	2	2	1	2	0	4	3	5	0	4	2	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.405A>T	p.=	p.L135L	ENST00000343516	5/20	297	265	32	298	297	1	strelka-varscan-mutect	CASKIN1,synonymous_variant,p.=,ENST00000343516,NM_020764.3;CASKIN1,upstream_gene_variant,,ENST00000564289,;CASKIN1,non_coding_transcript_exon_variant,,ENST00000562055,;	A	ENST00000343516	Transcript	synonymous_variant	498/5759	405/4296	135/1431	L	ctA/ctT		1		-1	CASKIN1	HGNC	HGNC:20879	protein_coding	YES	CCDS42103.1	ENSP00000345436	Q8WXD9		UPI0000073A3B	NM_020764.3			5/20		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24177:SF12,hmmpanther:PTHR24177,Gene3D:1.25.40.20,Pfam_domain:PF13637,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	29	2189319	2189319	T	A	1	0	0	0	0	0	0	0	1	2366	1625	57	4		4	CASKIN1	16	2189319	Silent	SNP	T	C3L-01924_TP	1205446	2189319	88149026	475	8790											
PPL	0	.	GRCh38	chr16	4883545	4883545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcactgaggactccccatTgggacccttcactgagatct	9	11	8	13	0	3	2	2	2	1	1	4	5	4	4	3	2	0	0	3	2	1	3	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.5110A>G	p.Asn1704Asp	p.N1704D	ENST00000345988	22/22	173	132	41	163	163	0	strelka-varscan-mutect	PPL,missense_variant,p.Asn1704Asp,ENST00000345988,NM_002705.4;PPL,missense_variant,p.Asn1702Asp,ENST00000590782,;UBN1,downstream_gene_variant,,ENST00000396658,;UBN1,downstream_gene_variant,,ENST00000262376,NM_001079514.2;PPL,downstream_gene_variant,,ENST00000592772,;UBN1,downstream_gene_variant,,ENST00000590769,NM_001288656.1;UBN1,downstream_gene_variant,,ENST00000589191,;	C	ENST00000345988	Transcript	missense_variant	5200/6238	5110/5271	1704/1756	N/D	Aat/Gat		1		-1	PPL	HGNC	HGNC:9273	protein_coding	YES	CCDS10526.1	ENSP00000340510	O60437		UPI00001AE832	NM_002705.4	tolerated(0.19)		22/22		hmmpanther:PTHR23169,SMART_domains:SM00250,Superfamily_domains:SSF75399																	MODERATE	1	SNV	1			1										PASS		rs1346444200	.												C	3	2	29	4883545	4883545	T	C	1	0	0	0	0	1	0	0	0	12444	1812	63	5		5	PPL	16	4883545	Missense_Mutation	SNP	T	C3L-01924_TP	2694226	4883545	85454800	476	8791											
TXNDC11	0	.	GRCh38	chr16	11692044	11692044	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agacgctccaccacctggtcCccatgacagttgttgtactc	8	10	8	15	1	0	2	0	1	0	1	3	2	2	2	5	1	1	4	5	1	1	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1227G>T	p.=	p.G409G	ENST00000356957	9/13	28	23	5	40	40	0	strelka-varscan-mutect	TXNDC11,synonymous_variant,p.=,ENST00000356957,NM_001303447.1;TXNDC11,synonymous_variant,p.=,ENST00000283033,NM_015914.6;TXNDC11,synonymous_variant,p.=,ENST00000575591,;TXNDC11,upstream_gene_variant,,ENST00000570917,;TXNDC11,3_prime_UTR_variant,,ENST00000576969,;TXNDC11,non_coding_transcript_exon_variant,,ENST00000572732,;TXNDC11,downstream_gene_variant,,ENST00000571882,;TXNDC11,upstream_gene_variant,,ENST00000575349,;	A	ENST00000356957	Transcript	synonymous_variant	1335/3178	1227/2958	409/985	G	ggG/ggT		1		-1	TXNDC11	HGNC	HGNC:28030	protein_coding	YES	CCDS76822.1	ENSP00000349439	Q6PKC3		UPI000041D75B	NM_001303447.1			9/13																			LOW	1	SNV	1			1										PASS		rs1470590332	.												A	2	1	29	11692044	11692044	C	A	1	0	0	0	0	0	0	0	1	17308	610	22	2		2	TXNDC11	16	11692044	Silent	SNP	C	C3L-01924_TP	6808499	11692044	78646301	477	8792											
KNOP1	0	.	GRCh38	chr16	19714144	19714144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggtctcctgctacccCactctctttcctcttcttct	4	15	4	18	0	5	0	0	0	5	0	8	0	6	0	5	1	2	1	5	1	2	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.892G>T	p.Gly298Trp	p.G298W	ENST00000219837	2/5	134	119	15	146	144	2	strelka-varscan-mutect	KNOP1,missense_variant,p.Gly298Trp,ENST00000219837,NM_001012991.2;KNOP1,missense_variant,p.Gly146Trp,ENST00000567367,;IQCK,upstream_gene_variant,,ENST00000320394,NM_153208.1;KNOP1,upstream_gene_variant,,ENST00000568230,;KNOP1,downstream_gene_variant,,ENST00000564480,;IQCK,upstream_gene_variant,,ENST00000564186,;AC002550.5,intron_variant,,ENST00000565916,;KNOP1,non_coding_transcript_exon_variant,,ENST00000565844,;IQCK,upstream_gene_variant,,ENST00000308214,;IQCK,upstream_gene_variant,,ENST00000568300,;IQCK,upstream_gene_variant,,ENST00000568126,;IQCK,upstream_gene_variant,,ENST00000561839,;IQCK,upstream_gene_variant,,ENST00000564955,;IQCK,upstream_gene_variant,,ENST00000561935,;IQCK,upstream_gene_variant,,ENST00000564515,;IQCK,upstream_gene_variant,,ENST00000566312,;	A	ENST00000219837	Transcript	missense_variant	971/6432	892/1377	298/458	G/W	Ggg/Tgg		1		-1	KNOP1	HGNC	HGNC:34404	protein_coding	YES	CCDS42127.1	ENSP00000219837	Q1ED39		UPI00001982F5	NM_001012991.2	deleterious(0.02)		2/5		hmmpanther:PTHR22426																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	19714144	19714144	C	A	1	0	0	0	0	1	0	0	0	8306	594	21	2		2	KNOP1	16	19714144	Missense_Mutation	SNP	C	C3L-01924_TP	8022100	19714144	70624201	478	8793											
ZP2	0	.	GRCh38	chr16	21201744	21201744	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaggtaaatggacccaacTtcactgaggccactggagga	13	7	11	10	0	2	1	2	1	0	0	2	4	2	4	2	5	1	1	2	5	4	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1466A>T	p.Lys489Met	p.K489M	ENST00000574002	14/20	216	167	49	223	222	1	strelka-varscan-mutect	ZP2,missense_variant,p.Lys489Met,ENST00000574002,NM_003460.2;ZP2,missense_variant,p.Lys480Met,ENST00000574091,NM_001290104.1;AF001550.7,intron_variant,,ENST00000572747,;ZP2,downstream_gene_variant,,ENST00000576162,;ZP2,downstream_gene_variant,,ENST00000572752,;ZP2,downstream_gene_variant,,ENST00000573114,;	A	ENST00000574002	Transcript	missense_variant	1949/2749	1466/2238	489/745	K/M	aAg/aTg		1		-1	ZP2	HGNC	HGNC:13188	protein_coding	YES	CCDS10596.1	ENSP00000460971	Q05996		UPI000013C45C	NM_003460.2	deleterious(0)		14/20		PROSITE_profiles:PS51034,hmmpanther:PTHR23343:SF4,hmmpanther:PTHR23343,Pfam_domain:PF00100,SMART_domains:SM00241																	MODERATE	1	SNV	1			1										PASS		rs1488853858	.												A	3	1	29	21201744	21201744	T	A	1	0	0	0	0	1	0	0	0	18808	1609	56	4		4	ZP2	16	21201744	Missense_Mutation	SNP	T	C3L-01924_TP	1487600	21201744	69136601	479	8794											
EEF2K	0	.	GRCh38	chr16	22257652	22257652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgtccacaggtgtccgcgGgatggcgctcttcttctact	4	13	11	13	3	4	0	0	0	4	0	6	1	6	1	2	3	1	1	2	3	1	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.911G>T	p.Gly304Val	p.G304V	ENST00000263026	9/18	115	96	19	135	135	0	strelka-varscan-mutect	EEF2K,missense_variant,p.Gly304Val,ENST00000263026,NM_013302.3;EEF2K,missense_variant,p.Gly304Val,ENST00000568269,;EEF2K,non_coding_transcript_exon_variant,,ENST00000563555,;	T	ENST00000263026	Transcript	missense_variant	1385/7388	911/2178	304/725	G/V	gGg/gTg		1		1	EEF2K	HGNC	HGNC:24615	protein_coding	YES	CCDS10604.1	ENSP00000263026	O00418		UPI000013D387	NM_013302.3	deleterious(0)		9/18		PROSITE_profiles:PS51158,hmmpanther:PTHR14187,Pfam_domain:PF02816,PIRSF_domain:PIRSF038139,SMART_domains:SM00811,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	29	22257652	22257652	G	T	1	0	0	0	0	1	0	0	0	4760	1232	43	2		2	EEF2K	16	22257652	Missense_Mutation	SNP	G	C3L-01924_TP	1055908	22257652	68080693	480	8795											
IL21R	0	.	GRCh38	chr16	27437626	27437626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgacattttcagtgtcaaCatcacagaccagtctggcaa	13	9	8	11	1	4	1	3	0	1	1	4	3	4	1	1	1	1	1	1	1	2	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.291C>A	p.Asn97Lys	p.N97K	ENST00000337929	4/9	416	382	34	414	414	0	strelka-varscan-mutect	IL21R,missense_variant,p.Asn97Lys,ENST00000337929,NM_181078.2;IL21R,missense_variant,p.Asn97Lys,ENST00000564089,NM_181079.4;IL21R,missense_variant,p.Asn97Lys,ENST00000395754,NM_021798.3;	A	ENST00000337929	Transcript	missense_variant	764/4849	291/1617	97/538	N/K	aaC/aaA		1		1	IL21R	HGNC	HGNC:6006	protein_coding	YES	CCDS10630.1	ENSP00000338010	Q9HBE5		UPI0000043CF0	NM_181078.2	deleterious(0.01)		4/9		hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	27437626	27437626	C	A	1	0	0	0	0	1	0	0	0	7574	477	17	2		2	IL21R	16	27437626	Missense_Mutation	SNP	C	C3L-01924_TP	5179974	27437626	62900719	481	8796											
GTF3C1	0	.	GRCh38	chr16	27489629	27489629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actccagcatggcgcacttgCgctccaggttgtgcttgtcc	5	11	11	14	2	0	0	0	0	0	0	3	0	3	0	3	2	3	5	3	2	0	3			C3L-01924_TP	C3L-01924_NB	C	C																c.3266G>T	p.Arg1089Leu	p.R1089L	ENST00000356183	20/37	173	147	26	168	168	0	strelka-varscan-mutect	GTF3C1,missense_variant,p.Arg1089Leu,ENST00000356183,NM_001520.3;GTF3C1,missense_variant,p.Arg1089Leu,ENST00000561623,NM_001286242.1;GTF3C1,intron_variant,,ENST00000569653,;GTF3C1,upstream_gene_variant,,ENST00000568569,;GTF3C1,upstream_gene_variant,,ENST00000570129,;GTF3C1,upstream_gene_variant,,ENST00000564664,;	A	ENST00000356183	Transcript	missense_variant	3282/7018	3266/6330	1089/2109	R/L	cGc/cTc	COSM1377027	1		-1	GTF3C1	HGNC	HGNC:4664	protein_coding	YES	CCDS32414.1	ENSP00000348510	Q12789		UPI00001FF123	NM_001520.3	deleterious(0.02)		20/37		hmmpanther:PTHR15180,hmmpanther:PTHR15180:SF1											1						MODERATE	1	SNV	1		1	1										PASS		rs1167472934	.												A	3	1	29	27489629	27489629	C	A	1	0	0	0	0	1	0	0	0	6753	768	27	1		1	GTF3C1	16	27489629	Missense_Mutation	SNP	C	C3L-01924_TP	52003	27489629	62848716	482	8797											
SEZ6L2	0	.	GRCh38	chr16	29880025	29880025	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtagtgacatttccaTgtgccaggaagggggcgaag	9	8	16	8	2	0	1	0	1	0	0	1	3	1	2	3	4	1	1	3	4	3	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1412A>T	p.His471Leu	p.H471L	ENST00000617533	9/18	182	167	15	186	186	0	strelka-varscan-mutect	SEZ6L2,missense_variant,p.His471Leu,ENST00000308713,NM_201575.3,NM_001114099.2;SEZ6L2,missense_variant,p.His471Leu,ENST00000617533,NM_001243332.1;SEZ6L2,missense_variant,p.His427Leu,ENST00000537485,NM_001243333.1;SEZ6L2,missense_variant,p.His401Leu,ENST00000350527,NM_012410.3;SEZ6L2,missense_variant,p.His357Leu,ENST00000346932,NM_001114100.2;SEZ6L2,intron_variant,,ENST00000563118,;SEZ6L2,non_coding_transcript_exon_variant,,ENST00000568407,;	A	ENST00000617533	Transcript	missense_variant	1657/3555	1412/2772	471/923	H/L	cAt/cTt		1		-1	SEZ6L2	HGNC	HGNC:30844	protein_coding	YES	CCDS73865.1	ENSP00000481917		A0A087WYL5	UPI00001FFE46	NM_001243332.1	tolerated(0.07)		9/18		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF92,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	29880025	29880025	T	A	1	0	0	0	0	1	0	0	0	14423	1464	51	4		4	SEZ6L2	16	29880025	Missense_Mutation	SNP	T	C3L-01924_TP	2390396	29880025	60458320	483	8798											
SRCAP	0	.	GRCh38	chr16	30722597	30722597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgtcagcaggggggcaGcaccatctcatcagccagcc	8	6	12	15	1	3	0	3	0	1	0	5	0	3	0	3	3	4	3	3	3	0	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.3741G>T	p.Gln1247His	p.Q1247H	ENST00000262518	23/34	182	143	39	126	126	0	strelka-varscan-mutect	SRCAP,missense_variant,p.Gln1247His,ENST00000262518,NM_006662.2;SRCAP,missense_variant,p.Gln947His,ENST00000483083,;SRCAP,intron_variant,,ENST00000395059,;RP11-2C24.9,intron_variant,,ENST00000380361,;	T	ENST00000262518	Transcript	missense_variant	4126/11754	3741/9693	1247/3230	Q/H	caG/caT		1		1	SRCAP	HGNC	HGNC:16974	protein_coding	YES	CCDS10689.2	ENSP00000262518	Q6ZRS2		UPI000059D368	NM_006662.2	deleterious(0)		23/34																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	29	30722597	30722597	G	T	1	0	0	0	0	1	0	0	0	15493	962	34	2		2	SRCAP	16	30722597	Missense_Mutation	SNP	G	C3L-01924_TP	842572	30722597	59615748	484	8799											
FBXL19	0	.	GRCh38	chr16	30927316	30927316	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcccccaacagcccgtgctCccacacacagctgtgtgcct	7	7	7	20	1	0	0	0	0	0	0	2	0	2	0	5	0	5	2	5	0	1	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.246C>T	p.=	p.L82L	ENST00000380310	3/11	90	80	10	99	99	0	strelka-varscan-mutect	FBXL19,synonymous_variant,p.=,ENST00000338343,;FBXL19,synonymous_variant,p.=,ENST00000380310,NM_001099784.2;FBXL19,synonymous_variant,p.=,ENST00000427128,;FBXL19,synonymous_variant,p.=,ENST00000565690,;FBXL19,synonymous_variant,p.=,ENST00000562319,;FBXL19,5_prime_UTR_variant,,ENST00000471231,NM_001282351.1;FBXL19,downstream_gene_variant,,ENST00000562798,;FBXL19-AS1,upstream_gene_variant,,ENST00000563777,;	T	ENST00000380310	Transcript	synonymous_variant	404/3796	246/2085	82/694	L	ctC/ctT		1		1	FBXL19	HGNC	HGNC:25300	protein_coding	YES	CCDS45465.1	ENSP00000369666	Q6PCT2		UPI00015C725E	NM_001099784.2			3/11		Pfam_domain:PF16866,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF10,Superfamily_domains:SSF57903																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	29	30927316	30927316	C	T	1	0	0	0	0	0	0	0	1	5579	842	30	3		3	FBXL19	16	30927316	Silent	SNP	C	C3L-01924_TP	204719	30927316	59411029	485	8800											
PRSS8	0	.	GRCh38	chr16	31135172	31135172	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttctgccccttccgctcCtagaaagaaagagaaagagg	13	7	9	12	1	1	4	0	0	1	4	3	5	3	4	5	1	1	1	5	1	4	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.86-1G>T		p.X29_splice	ENST00000317508		199	174	25	181	180	1	strelka-varscan-mutect	PRSS8,splice_acceptor_variant,,ENST00000317508,NM_002773.3;PRSS8,splice_acceptor_variant,,ENST00000568261,;PRSS8,splice_acceptor_variant,,ENST00000567531,;PRSS8,intron_variant,,ENST00000567797,;PRSS36,downstream_gene_variant,,ENST00000268281,NM_173502.4;PRSS36,downstream_gene_variant,,ENST00000569305,NM_001258290.1;PRSS36,downstream_gene_variant,,ENST00000418068,NM_001258291.1;KAT8,downstream_gene_variant,,ENST00000543774,;KAT8,downstream_gene_variant,,ENST00000448516,NM_182958.2;KAT8,downstream_gene_variant,,ENST00000219797,NM_032188.2;KAT8,downstream_gene_variant,,ENST00000537402,;RP11-388M20.2,downstream_gene_variant,,ENST00000563605,;PRSS8,splice_acceptor_variant,,ENST00000567833,;PRSS8,splice_acceptor_variant,,ENST00000564025,;PRSS36,downstream_gene_variant,,ENST00000562368,;KAT8,downstream_gene_variant,,ENST00000538768,;KAT8,downstream_gene_variant,,ENST00000573144,;PRSS36,downstream_gene_variant,,ENST00000571878,;	A	ENST00000317508	Transcript	splice_acceptor_variant	-/1872	86/1032	29/343				1		-1	PRSS8	HGNC	HGNC:9491	protein_coding	YES	CCDS45469.1	ENSP00000319730	Q16651		UPI0000046DCB	NM_002773.3				1/5																		HIGH	1	SNV	1			1										PASS		rs1355144035	.												A	5	1	29	31135172	31135172	C	A	1	0	0	0	0	0	0	1	0	12786	695	24	2		2	PRSS8	16	31135172	Splice_Site	SNP	C	C3L-01924_TP	207856	31135172	59203173	486	8801											
TRIM72	0	.	GRCh38	chr16	31220916	31220916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatactgcctggtgaccagCaggtgagagcaacctggccc	11	6	12	12	0	0	2	0	2	0	1	0	3	0	2	4	3	5	2	4	3	3	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.738C>A	p.Ser246Arg	p.S246R	ENST00000322122	5/7	258	233	25	253	252	1	strelka-varscan-mutect	TRIM72,missense_variant,p.Ser246Arg,ENST00000322122,NM_001008274.3;TRIM72,missense_variant,p.Ser246Arg,ENST00000613872,;PYDC1,upstream_gene_variant,,ENST00000302964,NM_152901.3;PYDC1,upstream_gene_variant,,ENST00000568383,;	A	ENST00000322122	Transcript	missense_variant,splice_region_variant	1022/8500	738/1434	246/477	S/R	agC/agA		1		1	TRIM72	HGNC	HGNC:32671	protein_coding	YES	CCDS32437.1	ENSP00000312675	Q6ZMU5		UPI00001FFF74	NM_001008274.3	deleterious(0)		5/7		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF11																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	29	31220916	31220916	C	A	1	0	0	0	0	1	0	0	0	17041	724	25	2		2	TRIM72	16	31220916	Missense_Mutation	SNP	C	C3L-01924_TP	85744	31220916	59117429	487	8802											
ITGAM	0	.	GRCh38	chr16	31278019	31278019	+	Silent	SNP	G	G	T																															gtgcaaagcctggttctgggGgcacctcgatatcagcacat																										C3L-01924_TP	C3L-01924_NB	G	G																c.1266G>T	p.=	p.G422G	ENST00000544665	12/30	149	120	29	135	133	2	strelka-varscan-mutect	ITGAM,synonymous_variant,p.=,ENST00000544665,NM_001145808.1;ITGAM,synonymous_variant,p.=,ENST00000287497,NM_000632.3;ITGAM,intron_variant,,ENST00000567031,;ITGAM,downstream_gene_variant,,ENST00000570242,;	T	ENST00000544665	Transcript	synonymous_variant	1337/4718	1266/3462	422/1153	G	ggG/ggT	COSM361842	1		1	ITGAM	HGNC	HGNC:6149	protein_coding	YES	CCDS54004.1	ENSP00000441691	P11215		UPI000004B26A	NM_001145808.1			12/30		Gene3D:3nigC00,Prints_domain:PR01185,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,SMART_domains:SM00191,Superfamily_domains:SSF69318											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	29	31278019	31278019	G	T	1	0	0	0	0	0	0	0	1	7794	1219	43	2		2	ITGAM	16	31278019	Silent	SNP	G	C3L-01924_TP	57103	31278019	59060326	488	8803	200	2									
ITGAM	0	.	GRCh38	chr16	31278020	31278020	+	Missense_Mutation	SNP	G	G	T																															tgcaaagcctggttctggggGcacctcgatatcagcacatc																								novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1267G>T	p.Ala423Ser	p.A423S	ENST00000544665	12/30	150	121	29	135	135	0	strelka-varscan-mutect	ITGAM,missense_variant,p.Ala423Ser,ENST00000544665,NM_001145808.1;ITGAM,missense_variant,p.Ala423Ser,ENST00000287497,NM_000632.3;ITGAM,intron_variant,,ENST00000567031,;ITGAM,downstream_gene_variant,,ENST00000570242,;	T	ENST00000544665	Transcript	missense_variant	1338/4718	1267/3462	423/1153	A/S	Gca/Tca		1		1	ITGAM	HGNC	HGNC:6149	protein_coding	YES	CCDS54004.1	ENSP00000441691	P11215		UPI000004B26A	NM_001145808.1	deleterious(0.01)		12/30		Gene3D:3nigC00,Prints_domain:PR01185,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,SMART_domains:SM00191,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	31278020	31278020	G	T	1	0	0	0	0	1	0	0	0	7794	1203	42	2		2	ITGAM	16	31278020	Missense_Mutation	SNP	G	C3L-01924_TP	1	31278020	59060325	489	8804	200	2									
PHKB	0	.	GRCh38	chr16	47661794	47661794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggccccaacttcatcacaAaggaaggtaagcatgcatgt	15	7	9	10	0	2	0	2	0	0	0	2	1	2	1	2	3	3	3	2	3	5	2	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.2272A>G	p.Lys758Glu	p.K758E	ENST00000323584	23/31	332	298	34	427	427	0	strelka-varscan-mutect	PHKB,missense_variant,p.Lys758Glu,ENST00000299167,;PHKB,missense_variant,p.Lys758Glu,ENST00000323584,NM_000293.2;PHKB,missense_variant,p.Lys751Glu,ENST00000566044,NM_001031835.2;PHKB,missense_variant,p.Lys65Glu,ENST00000566275,;PHKB,non_coding_transcript_exon_variant,,ENST00000568171,;PHKB,upstream_gene_variant,,ENST00000566319,;	G	ENST00000323584	Transcript	missense_variant	2296/4283	2272/3282	758/1093	K/E	Aag/Gag		1		1	PHKB	HGNC	HGNC:8927	protein_coding	YES	CCDS10729.1	ENSP00000313504	Q93100		UPI0000141140	NM_000293.2	tolerated(0.66)		23/31		Pfam_domain:PF00723,hmmpanther:PTHR10749																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	47661794	47661794	A	G	1	0	0	0	0	1	0	0	0	11933	15	1	5		5	PHKB	16	47661794	Missense_Mutation	SNP	A	C3L-01924_TP	16383774	47661794	42676551	490	8805											
SALL1	0	.	GRCh38	chr16	51139767	51139767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaagttgtctaggtcatCaaaatttttctcatcaaagg	14	13	8	6	0	5	1	4	0	2	1	6	2	5	1	0	2	0	1	0	2	5	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2455G>T	p.Asp819Tyr	p.D819Y	ENST00000251020	2/3	382	346	36	466	466	0	strelka-varscan-mutect	SALL1,missense_variant,p.Asp722Tyr,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Asp819Tyr,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Asp722Tyr,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	A	ENST00000251020	Transcript	missense_variant	2489/5146	2455/3975	819/1324	D/Y	Gat/Tat		1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	deleterious(0)		2/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	51139767	51139767	C	A	1	0	0	0	0	1	0	0	0	14069	826	29	2		2	SALL1	16	51139767	Missense_Mutation	SNP	C	C3L-01924_TP	3477973	51139767	39198578	491	8806											
CDH8	0	.	GRCh38	chr16	61727050	61727050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttagtcaaatatgagacagTtgtatacaaacatattcagc	16	12	7	6	0	2	1	2	1	0	1	2	2	2	1	0	0	3	3	0	0	7	7	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1580A>G	p.Asn527Ser	p.N527S	ENST00000584337	9/9	94	86	8	99	99	0	varscan-mutect	CDH8,missense_variant,p.Asn527Ser,ENST00000584337,;CDH8,intron_variant,,ENST00000577390,NM_001796.4;CDH8,intron_variant,,ENST00000577730,;CDH8,intron_variant,,ENST00000299345,;CDH8,intron_variant,,ENST00000585315,;	C	ENST00000584337	Transcript	missense_variant	2102/3986	1580/1599	527/532	N/S	aAc/aGc		1		-1	CDH8	HGNC	HGNC:1767	protein_coding			ENSP00000463511		J3QLE6	UPI00001FF328		tolerated_low_confidence(1)		9/9																			MODERATE		SNV	5			1										PASS		.	.												C	3	2	29	61727050	61727050	T	C	1	0	0	0	0	1	0	0	0	2819	1725	60	5		5	CDH8	16	61727050	Missense_Mutation	SNP	T	C3L-01924_TP	10587283	61727050	28611295	492	8807											
WWP2	0	.	GRCh38	chr16	69799184	69799184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtttttcaggaatgtcacgGcacagagtcatttagattta	11	15	9	6	1	3	2	3	0	0	2	3	3	3	3	0	2	0	2	0	2	3	6	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.229G>T	p.Ala77Ser	p.A77S	ENST00000359154	4/24	63	44	19	87	87	0	strelka-varscan-mutect	WWP2,missense_variant,p.Ala77Ser,ENST00000359154,NM_007014.4,NM_001270454.1;WWP2,missense_variant,p.Ala77Ser,ENST00000569174,NM_001270455.1;WWP2,missense_variant,p.Ala77Ser,ENST00000561780,;WWP2,downstream_gene_variant,,ENST00000563659,;WWP2,non_coding_transcript_exon_variant,,ENST00000544162,;WWP2,missense_variant,p.Ala77Ser,ENST00000569620,;WWP2,non_coding_transcript_exon_variant,,ENST00000569658,;WWP2,non_coding_transcript_exon_variant,,ENST00000567986,;	T	ENST00000359154	Transcript	missense_variant	330/4515	229/2613	77/870	A/S	Gca/Tca		1		1	WWP2	HGNC	HGNC:16804	protein_coding	YES	CCDS10885.1	ENSP00000352069	O00308	A0A024R711	UPI000006CD16	NM_007014.4,NM_001270454.1	deleterious(0.03)		4/24		hmmpanther:PTHR11254:SF287,hmmpanther:PTHR11254,Gene3D:2.60.40.150,PIRSF_domain:PIRSF001569,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	69799184	69799184	G	T	1	0	0	0	0	1	0	0	0	17974	1203	42	2		2	WWP2	16	69799184	Missense_Mutation	SNP	G	C3L-01924_TP	8072134	69799184	20539161	493	8808											
CNTNAP4	0	.	GRCh38	chr16	76452615	76452615	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggagaggaggaggtttcTgccacttttcaatttcgaac	9	13	11	8	1	3	1	1	0	2	1	4	5	3	3	1	4	2	1	1	4	2	4	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1179T>A	p.=	p.S393S	ENST00000611870	8/24	153	101	52	184	184	0	strelka-varscan-mutect	CNTNAP4,synonymous_variant,p.=,ENST00000307431,;CNTNAP4,synonymous_variant,p.=,ENST00000611870,NM_033401.3;CNTNAP4,synonymous_variant,p.=,ENST00000377504,;CNTNAP4,synonymous_variant,p.=,ENST00000476707,;CNTNAP4,synonymous_variant,p.=,ENST00000622250,;CNTNAP4,synonymous_variant,p.=,ENST00000478060,NM_138994.3;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000471618,;	A	ENST00000611870	Transcript	synonymous_variant	1564/4867	1179/3927	393/1308	S	tcT/tcA		1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3			8/24		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659,SMART_domains:SM00282,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		rs1320439694	.												A	2	1	29	76452615	76452615	T	A	1	0	0	0	0	0	0	0	1	3431	1567	55	4		4	CNTNAP4	16	76452615	Silent	SNP	T	C3L-01924_TP	6653431	76452615	13885730	494	8809											
RTN4RL1	0	.	GRCh38	chr17	1937465	1937465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccaggccctggaaggtCtcgggtgccagcgtccgcag	6	7	14	14	3	2	0	1	0	1	0	4	1	3	1	4	4	2	1	4	4	1	1	rs760986954		C3L-01924_TP	C3L-01924_NB	C	C																c.357G>T	p.Glu119Asp	p.E119D	ENST00000331238	2/2	171	148	23	197	197	0	strelka-varscan-mutect	RTN4RL1,missense_variant,p.Glu119Asp,ENST00000331238,NM_178568.3;	A	ENST00000331238	Transcript	missense_variant	837/3625	357/1326	119/441	E/D	gaG/gaT	rs760986954	1		-1	RTN4RL1	HGNC	HGNC:21329	protein_coding	YES	CCDS45569.1	ENSP00000330631	Q86UN2		UPI000018CD23	NM_178568.3	tolerated(1)		2/2		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF11,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs760986954	.												A	3	1	29	1937465	1937465	C	A	1	0	0	0	0	1	0	0	0	13991	912	32	2		2	RTN4RL1	17	1937465	Missense_Mutation	SNP	C	C3L-01924_TP		1937465	81319976	495	8810											
TRPV1	0	.	GRCh38	chr17	3590059	3590059	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctgcagcaggaacttcacGatgcccagctggttggtgca	8	10	12	11	1	2	0	1	0	1	0	2	2	2	1	1	3	6	5	1	3	1	3	rs753718104		C3L-01924_TP	C3L-01924_NB	G	G																c.792C>T	p.=	p.I264I	ENST00000572705	7/17	85	76	9	117	117	0	strelka-varscan-mutect	TRPV1,synonymous_variant,p.=,ENST00000572705,NM_080704.3;TRPV1,synonymous_variant,p.=,ENST00000571088,NM_018727.5;TRPV1,synonymous_variant,p.=,ENST00000399759,NM_080705.3;TRPV1,synonymous_variant,p.=,ENST00000399756,NM_080706.3;TRPV1,synonymous_variant,p.=,ENST00000425167,;TRPV1,synonymous_variant,p.=,ENST00000576351,;TRPV1,synonymous_variant,p.=,ENST00000310522,;RP11-235E17.2,3_prime_UTR_variant,,ENST00000572919,;TRPV1,non_coding_transcript_exon_variant,,ENST00000574085,;	A	ENST00000572705	Transcript	synonymous_variant	1067/4166	792/2520	264/839	I	atC/atT	rs753718104,COSM3516430,COSM3516431,COSM3516432	1		-1	TRPV1	HGNC	HGNC:12716	protein_coding	YES	CCDS45576.1	ENSP00000459962	Q8NER1		UPI00005B2E0C	NM_080704.3			7/17		PROSITE_profiles:PS50297,hmmpanther:PTHR10582:SF17,hmmpanther:PTHR10582,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01768											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs753718104	.												A	2	1	29	3590059	3590059	G	A	1	0	0	0	0	0	0	0	1	17101	1048	37	1		1	TRPV1	17	3590059	Silent	SNP	G	C3L-01924_TP	1652594	3590059	79667382	496	8811											
TP53	0	.	GRCh38	chr17	7673772	7673772	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagattctcttcctctgtgCgccggtctctcccaggacag	5	11	11	14	2	3	1	0	0	3	1	7	3	5	2	3	3	1	0	3	3	0	2	rs371409680		C3L-01924_TP	C3L-01924_NB	C	C																c.848G>C	p.Arg283Pro	p.R283P	ENST00000269305	8/11	453	320	133	558	558	0	strelka-varscan-mutect	TP53,missense_variant,p.Arg283Pro,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Arg283Pro,ENST00000420246,;TP53,missense_variant,p.Arg244Pro,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Arg244Pro,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg283Pro,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Arg244Pro,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Arg283Pro,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Arg244Pro,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Arg283Pro,ENST00000445888,;TP53,missense_variant,p.Arg244Pro,ENST00000619485,;TP53,missense_variant,p.Arg151Pro,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Arg124Pro,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Arg151Pro,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Arg124Pro,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Arg151Pro,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Arg124Pro,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Arg283Pro,ENST00000359597,;TP53,missense_variant,p.Arg272Pro,ENST00000615910,;TP53,missense_variant,p.Arg151Pro,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Arg244Pro,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	G	ENST00000269305	Transcript	missense_variant	1038/2579	848/1182	283/393	R/P	cGc/cCc	rs371409680,CM021154,TP53_g.13828G>A,TP53_g.13828G>T,TP53_g.13828G>C,COSM10743,COSM11483,COSM1646817,COSM4271752,COSM44463,COSM99941	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0.01)		8/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										likely_benign,likely_pathogenic	0,0,0,0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,0,0,0,1,1,1,1,1,1	1										PASS		rs371409680	.												G	3	3	29	7673772	7673772	C	G	1	0	0	0	0	1	0	0	0	16859	768	27	4		4	TP53	17	7673772	Missense_Mutation	SNP	C	C3L-01924_TP	4083713	7673772	75583669	497	8812											
WRAP53	0	.	GRCh38	chr17	7689605	7689605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagggctcctgacggttcCtgcatcttgaccaatagtgc	7	12	10	12	1	2	2	0	2	2	0	4	2	4	2	3	2	2	3	3	2	3	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.546C>T	p.=	p.S182S	ENST00000316024	3/10	286	257	29	413	412	1	strelka-varscan-mutect	WRAP53,synonymous_variant,p.=,ENST00000316024,;WRAP53,synonymous_variant,p.=,ENST00000396463,NM_018081.2,NM_001143992.1;WRAP53,synonymous_variant,p.=,ENST00000457584,NM_001143991.1;WRAP53,synonymous_variant,p.=,ENST00000431639,NM_001143990.1;WRAP53,synonymous_variant,p.=,ENST00000534050,;TP53,upstream_gene_variant,,ENST00000617185,NM_001126114.2;TP53,upstream_gene_variant,,ENST00000420246,;TP53,upstream_gene_variant,,ENST00000622645,NM_001276696.1;TP53,upstream_gene_variant,,ENST00000610292,NM_001126118.1;TP53,upstream_gene_variant,,ENST00000455263,NM_001126113.2;TP53,upstream_gene_variant,,ENST00000610538,NM_001276695.1;TP53,upstream_gene_variant,,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,upstream_gene_variant,,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,upstream_gene_variant,,ENST00000445888,;TP53,upstream_gene_variant,,ENST00000619485,;TP53,upstream_gene_variant,,ENST00000509690,;TP53,upstream_gene_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000514944,;RP11-199F11.2,upstream_gene_variant,,ENST00000571370,;WRAP53,synonymous_variant,p.=,ENST00000498311,;WRAP53,non_coding_transcript_exon_variant,,ENST00000467699,;TP53,upstream_gene_variant,,ENST00000635293,;TP53,upstream_gene_variant,,ENST00000505014,;	T	ENST00000316024	Transcript	synonymous_variant	2894/4011	546/1647	182/548	S	tcC/tcT		1		1	WRAP53	HGNC	HGNC:25522	protein_coding	YES	CCDS11119.1	ENSP00000324203	Q9BUR4		UPI000007261E				3/10		Gene3D:2.130.10.10,hmmpanther:PTHR13211,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	7689605	7689605	C	T	1	0	0	0	0	0	0	0	1	17956	668	24	3		3	WRAP53	17	7689605	Silent	SNP	C	C3L-01924_TP	15833	7689605	75567836	498	8813											
MYH13	0	.	GRCh38	chr17	10311197	10311197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagattcttgccagtttctGcaatctgctcagttaagtcg	9	14	9	9	1	4	1	1	0	3	1	5	2	4	1	1	0	3	4	1	0	3	4	rs777192178		C3L-01924_TP	C3L-01924_NB	G	G																c.4562C>T	p.Ala1521Val	p.A1521V	ENST00000418404	32/41	183	139	44	230	230	0	strelka-varscan-mutect	MYH13,missense_variant,p.Ala1521Val,ENST00000418404,;MYH13,missense_variant,p.Ala1521Val,ENST00000252172,NM_003802.2;MYH13,missense_variant,p.Ala1521Val,ENST00000621918,;RP11-401O9.4,intron_variant,,ENST00000609088,;	A	ENST00000418404	Transcript	missense_variant	4726/6296	4562/5817	1521/1938	A/V	gCa/gTa	rs777192178	1		-1	MYH13	HGNC	HGNC:7571	protein_coding	YES	CCDS45613.1	ENSP00000404570	Q9UKX3		UPI0000DB39EA		deleterious(0.03)		32/41		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF504,Superfamily_domains:SSF90257																	MODERATE		SNV	5			1										PASS		rs777192178	.												A	3	1	29	10311197	10311197	G	A	1	0	0	0	0	1	0	0	0	10032	1319	46	3		3	MYH13	17	10311197	Missense_Mutation	SNP	G	C3L-01924_TP	2621592	10311197	72946244	499	8814											
MYH4	0	.	GRCh38	chr17	10453681	10453681	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctccttctcaaccttggCcagtgtcagctcaaggtcat	7	14	7	13	0	5	0	4	0	2	0	7	0	5	0	3	2	2	1	3	2	2	3			C3L-01924_TP	C3L-01924_NB	C	C																c.2896G>T	p.Ala966Ser	p.A966S	ENST00000255381	23/40	279	215	64	361	361	0	strelka-varscan-mutect	MYH4,missense_variant,p.Ala966Ser,ENST00000255381,NM_017533.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000255381	Transcript	missense_variant	3007/6016	2896/5820	966/1939	A/S	Gcc/Tcc	COSM3988757	1		-1	MYH4	HGNC	HGNC:7574	protein_coding	YES	CCDS11154.1	ENSP00000255381	Q9Y623		UPI000013CEAB	NM_017533.2	deleterious(0.03)		23/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF271,Superfamily_domains:SSF90257,Superfamily_domains:SSF90257											1						MODERATE	1	SNV	1		1	1										PASS		rs1462271152	.												A	3	1	29	10453681	10453681	C	A	1	0	0	0	0	1	0	0	0	10037	739	26	2		2	MYH4	17	10453681	Missense_Mutation	SNP	C	C3L-01924_TP	142484	10453681	72803760	500	8815											
MYH4	0	.	GRCh38	chr17	10455653	10455653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaggattctgcttgggaagCctttcctgcagatgcggatg	9	11	13	8	1	1	1	0	0	1	1	2	4	2	4	2	3	4	2	2	3	2	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2135G>T	p.Gly712Val	p.G712V	ENST00000255381	19/40	148	122	26	172	172	0	strelka-varscan-mutect	MYH4,missense_variant,p.Gly712Val,ENST00000255381,NM_017533.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000255381	Transcript	missense_variant	2246/6016	2135/5820	712/1939	G/V	gGc/gTc		1		-1	MYH4	HGNC	HGNC:7574	protein_coding	YES	CCDS11154.1	ENSP00000255381	Q9Y623		UPI000013CEAB	NM_017533.2	deleterious(0.01)		19/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF271,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1014306463	.												A	3	1	29	10455653	10455653	C	A	1	0	0	0	0	1	0	0	0	10037	739	26	2		2	MYH4	17	10455653	Missense_Mutation	SNP	C	C3L-01924_TP	1972	10455653	72801788	501	8816											
MYH4	0	.	GRCh38	chr17	10455717	10455717	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgatgcaggacaagctCatgctccatggcacctaaga	12	7	10	12	0	1	2	1	1	0	1	2	3	2	3	2	2	4	5	2	2	2	1	rs745388693		C3L-01924_TP	C3L-01924_NB	C	C																c.2071G>T	p.Glu691Ter	p.E691*	ENST00000255381	19/40	156	119	37	183	183	0	strelka-varscan-mutect	MYH4,stop_gained,p.Glu691Ter,ENST00000255381,NM_017533.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000255381	Transcript	stop_gained	2182/6016	2071/5820	691/1939	E/*	Gag/Tag	rs745388693,COSM5331814	1		-1	MYH4	HGNC	HGNC:7574	protein_coding	YES	CCDS11154.1	ENSP00000255381	Q9Y623		UPI000013CEAB	NM_017533.2			19/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF271,SMART_domains:SM00242,Superfamily_domains:SSF52540											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs745388693	.												A	4	1	29	10455717	10455717	C	A	1	0	0	0	0	0	1	0	0	10037	835	29	2		2	MYH4	17	10455717	Nonsense_Mutation	SNP	C	C3L-01924_TP	64	10455717	72801724	502	8817											
TRPV2	0	.	GRCh38	chr17	16423527	16423527	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggatgtggtaagctacctCctggagaacccacaccagcc	10	7	11	13	0	0	1	0	0	0	1	1	3	1	2	5	3	4	2	5	3	3	2	rs757975900		C3L-01924_TP	C3L-01924_NB	C	C																c.684C>A	p.=	p.L228L	ENST00000338560	5/15	104	92	12	97	96	1	strelka-varscan-mutect	TRPV2,synonymous_variant,p.=,ENST00000338560,NM_016113.4;TRPV2,synonymous_variant,p.=,ENST00000455666,;TRPV2,upstream_gene_variant,,ENST00000577277,;TRPV2,upstream_gene_variant,,ENST00000583241,;AC093484.4,upstream_gene_variant,,ENST00000441875,;	A	ENST00000338560	Transcript	synonymous_variant	1083/2808	684/2295	228/764	L	ctC/ctA	rs757975900	1		1	TRPV2	HGNC	HGNC:18082	protein_coding	YES	CCDS32576.1	ENSP00000342222	Q9Y5S1		UPI0000032F4E	NM_016113.4			5/15		PROSITE_profiles:PS50297,hmmpanther:PTHR10582:SF5,hmmpanther:PTHR10582,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01768																	LOW	1	SNV	1			1										PASS		rs757975900	.												A	2	1	29	16423527	16423527	C	A	1	0	0	0	0	0	0	0	1	17102	842	30	2		2	TRPV2	17	16423527	Silent	SNP	C	C3L-01924_TP	5967810	16423527	66833914	503	8818											
MAP2K3	0	.	GRCh38	chr17	21300906	21300906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgaactcacaggagcaGaagcggctgctcatggacct	11	6	12	12	2	2	2	2	1	0	1	2	4	2	4	2	3	4	3	2	3	2	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.312G>T	p.Gln104His	p.Q104H	ENST00000342679	5/12	305	268	37	340	340	0	strelka-varscan	MAP2K3,missense_variant,p.Gln104His,ENST00000342679,NM_145109.2;MAP2K3,missense_variant,p.Gln75His,ENST00000361818,NM_002756.4;MAP2K3,missense_variant,p.Gln75His,ENST00000613338,;MAP2K3,missense_variant,p.Gln75His,ENST00000316920,;MAP2K3,missense_variant,p.Gln75His,ENST00000526076,;MAP2K3,downstream_gene_variant,,ENST00000529517,;MAP2K3,missense_variant,p.Gln104His,ENST00000496046,;MAP2K3,3_prime_UTR_variant,,ENST00000395491,NM_001316332.1;MAP2K3,non_coding_transcript_exon_variant,,ENST00000583508,;MAP2K3,downstream_gene_variant,,ENST00000479129,;MAP2K3,downstream_gene_variant,,ENST00000483928,;	T	ENST00000342679	Transcript	missense_variant	561/2303	312/1044	104/347	Q/H	caG/caT		1		1	MAP2K3	HGNC	HGNC:6843	protein_coding	YES	CCDS11217.1	ENSP00000345083	P46734	Q6FI23	UPI000012F48C	NM_145109.2	deleterious(0)		5/12		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF191,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	21300906	21300906	G	T	1	0	0	0	0	1	0	0	0	9160	933	33	2		2	MAP2K3	17	21300906	Missense_Mutation	SNP	G	C3L-01924_TP	4877379	21300906	61956535	504	8819											
POLDIP2	0	.	GRCh38	chr17	28353779	28353779	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttggagccatggccagcAgggttctctgctctatgggg	5	11	14	11	0	2	0	0	0	2	0	4	1	3	1	3	5	3	3	3	5	1	3	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.354T>A	p.=	p.P118P	ENST00000540200	4/11	173	151	22	146	146	0	strelka-varscan-mutect	POLDIP2,synonymous_variant,p.=,ENST00000540200,NM_015584.4;POLDIP2,synonymous_variant,p.=,ENST00000618887,NM_001290145.1;TMEM199,upstream_gene_variant,,ENST00000292114,NM_152464.2;TMEM199,upstream_gene_variant,,ENST00000395404,;CTB-96E2.3,upstream_gene_variant,,ENST00000591482,;TMEM199,upstream_gene_variant,,ENST00000581386,;TMEM199,upstream_gene_variant,,ENST00000579762,;TMEM199,upstream_gene_variant,,ENST00000483505,;TMEM199,upstream_gene_variant,,ENST00000555264,;TMEM199,upstream_gene_variant,,ENST00000580868,;	T	ENST00000540200	Transcript	synonymous_variant	428/2121	354/1107	118/368	P	ccT/ccA		1		-1	POLDIP2	HGNC	HGNC:23781	protein_coding	YES	CCDS74018.1	ENSP00000475924	Q9Y2S7		UPI00000722ED	NM_015584.4			4/11		hmmpanther:PTHR14289:SF20,hmmpanther:PTHR14289,Pfam_domain:PF08755,SMART_domains:SM00992,Superfamily_domains:0050131																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	28353779	28353779	A	T	1	0	0	0	0	0	0	0	1	12304	175	7	4		4	POLDIP2	17	28353779	Silent	SNP	A	C3L-01924_TP	7052873	28353779	54903662	505	8820											
SEBOX	0	.	GRCh38	chr17	28364827	28364827	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggaaggcaagtgacccAggccaggtgctcatgggtgc	9	6	15	11	0	2	1	2	1	0	0	2	2	2	2	2	5	2	2	2	5	2	0	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.160T>A	p.Trp54Arg	p.W54R	ENST00000536498	2/3	160	131	29	234	233	1	strelka-varscan-mutect	SEBOX,missense_variant,p.Trp54Arg,ENST00000536498,NM_001080837.3;CTB-96E2.2,3_prime_UTR_variant,,ENST00000555059,;TMEM199,downstream_gene_variant,,ENST00000292114,NM_152464.2;VTN,downstream_gene_variant,,ENST00000226218,NM_000638.3;TMEM199,downstream_gene_variant,,ENST00000395404,;VTN,downstream_gene_variant,,ENST00000542029,;TMEM199,downstream_gene_variant,,ENST00000585070,;CTB-96E2.7,upstream_gene_variant,,ENST00000577850,;SARM1,intron_variant,,ENST00000379061,;CTB-96E2.3,intron_variant,,ENST00000591482,;TMEM199,downstream_gene_variant,,ENST00000483505,;TMEM199,downstream_gene_variant,,ENST00000555264,;TMEM199,downstream_gene_variant,,ENST00000509083,;VTN,downstream_gene_variant,,ENST00000539746,;TMEM199,downstream_gene_variant,,ENST00000585027,;TMEM199,downstream_gene_variant,,ENST00000580868,;	T	ENST00000536498	Transcript	missense_variant	253/666	160/573	54/190	W/R	Tgg/Agg		1		-1	SEBOX	HGNC	HGNC:32942	protein_coding	YES	CCDS45634.2	ENSP00000444503		F6T8T6	UPI000443806B	NM_001080837.3	tolerated(1)		2/3		PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF44,hmmpanther:PTHR24329,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	29	28364827	28364827	A	T	1	0	0	0	0	1	0	0	0	14253	188	7	4		4	SEBOX	17	28364827	Missense_Mutation	SNP	A	C3L-01924_TP	11048	28364827	54892614	506	8821											
NF1	0	.	GRCh38	chr17	31226603	31226603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagatatccggtgtggggtgGatgaagtgtcagtgcataac	10	10	15	6	1	1	2	1	1	0	1	2	3	2	3	1	4	2	1	1	4	3	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2170G>A	p.Asp724Asn	p.D724N	ENST00000358273	18/58	360	318	42	461	461	0	strelka-varscan-mutect	NF1,missense_variant,p.Asp724Asn,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Asp724Asn,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Asp390Asn,ENST00000456735,;NF1,downstream_gene_variant,,ENST00000431387,NM_001128147.2;NF1,missense_variant,p.Asp758Asn,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;	A	ENST00000358273	Transcript	missense_variant	2553/12425	2170/8520	724/2839	D/N	Gat/Aat		1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2	tolerated(0.08)		18/58																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	31226603	31226603	G	A	1	0	0	0	0	1	0	0	0	10393	1174	41	3		3	NF1	17	31226603	Missense_Mutation	SNP	G	C3L-01924_TP	2861776	31226603	52030838	507	8822											
TADA2A	0	.	GRCh38	chr17	37442616	37442616	+	Frame_Shift_Del	DEL	G	G	-																															tccttgctttctcgggacatGgccgggtacatgccagctcg																								novel		C3L-01924_TP	C3L-01924_NB	G	G																c.496delG	p.Ala166ProfsTer22	p.A166Pfs*22	ENST00000615182	7/16	227	176	51	230	230	0	sindel-varindel-pindel	TADA2A,frameshift_variant,p.Ala166ProfsTer22,ENST00000615182,NM_001166105.2;TADA2A,frameshift_variant,p.Ala166ProfsTer22,ENST00000612272,NM_001488.4;TADA2A,frameshift_variant,p.Ala166ProfsTer22,ENST00000620367,NM_001291918.1,NM_133439.3;TADA2A,frameshift_variant,p.Ala86ProfsTer22,ENST00000615328,;TADA2A,frameshift_variant,,ENST00000614112,;TADA2A,downstream_gene_variant,,ENST00000621780,;TADA2A,non_coding_transcript_exon_variant,,ENST00000620086,;TADA2A,frameshift_variant,p.Ala166ProfsTer22,ENST00000620628,;TADA2A,3_prime_UTR_variant,,ENST00000614122,;TADA2A,intron_variant,,ENST00000619777,;TADA2A,downstream_gene_variant,,ENST00000610834,;TADA2A,downstream_gene_variant,,ENST00000620838,;	-	ENST00000615182	Transcript	frameshift_variant	668/4253	495/1332	165/443	M/X	atG/at		1		1	TADA2A	HGNC	HGNC:11531	protein_coding	YES	CCDS11319.1	ENSP00000481091		A0A024R0Y4	UPI00001254E3	NM_001166105.2			7/16		PIRSF_domain:PIRSF025024,hmmpanther:PTHR12374																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	29	37442616	37442616	G	-	1	0	1	0	1	0	0	0	0	15906	1348	47	0		0	TADA2A	17	37442616	Frame_Shift_Del	DEL	G	C3L-01924_TP	6216013	37442616	45814825	508	8823											
FBXO47	0	.	GRCh38	chr17	38945129	38945129	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attcttaactccagtttttgGgcacttcctatgaagacaaa	12	14	6	9	0	1	2	0	1	1	1	3	2	3	2	2	1	1	2	2	1	4	6	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.624C>A	p.=	p.A208A	ENST00000378079	7/11	100	78	22	107	107	0	strelka-varscan-mutect	FBXO47,synonymous_variant,p.=,ENST00000378079,NM_001008777.2;	T	ENST00000378079	Transcript	synonymous_variant	824/2302	624/1359	208/452	A	gcC/gcA		1		-1	FBXO47	HGNC	HGNC:31969	protein_coding	YES	CCDS32639.1	ENSP00000367319	Q5MNV8		UPI00004DDAF1	NM_001008777.2			7/11		hmmpanther:PTHR34098:SF1,hmmpanther:PTHR34098																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	38945129	38945129	G	T	1	0	0	0	0	0	0	0	1	5619	1219	43	2		2	FBXO47	17	38945129	Silent	SNP	G	C3L-01924_TP	1502513	38945129	44312312	509	8824											
AARSD1	0	.	GRCh38	chr17	42956448	42956448	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagttctcggacattcaCaggcagccgatctctgattt	8	12	9	12	2	4	1	2	1	2	0	6	3	4	2	1	2	1	3	1	2	0	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1024G>T	p.Val342Leu	p.V342L	ENST00000421990	10/17	163	120	43	136	136	0	strelka-varscan-mutect	PTGES3L-AARSD1,missense_variant,p.Val342Leu,ENST00000421990,NM_001136042.2;PTGES3L-AARSD1,missense_variant,p.Val342Leu,ENST00000409399,;PTGES3L-AARSD1,missense_variant,p.Val281Leu,ENST00000360221,NM_025267.3;PTGES3L-AARSD1,missense_variant,p.Val251Leu,ENST00000409103,;AARSD1,missense_variant,p.Val168Leu,ENST00000427569,NM_001261434.1;AARSD1,missense_variant,p.Val63Leu,ENST00000430739,;PTGES3L-AARSD1,downstream_gene_variant,,ENST00000452752,;AARSD1,non_coding_transcript_exon_variant,,ENST00000416949,;AARSD1,missense_variant,p.Val63Leu,ENST00000450475,;AARSD1,3_prime_UTR_variant,,ENST00000591910,;AARSD1,3_prime_UTR_variant,,ENST00000436545,;PTGES3L-AARSD1,3_prime_UTR_variant,,ENST00000423601,;AARSD1,non_coding_transcript_exon_variant,,ENST00000441280,;AARSD1,non_coding_transcript_exon_variant,,ENST00000483774,;AARSD1,non_coding_transcript_exon_variant,,ENST00000491665,;AARSD1,non_coding_transcript_exon_variant,,ENST00000486664,;AARSD1,non_coding_transcript_exon_variant,,ENST00000478040,;AARSD1,upstream_gene_variant,,ENST00000593123,;AARSD1,upstream_gene_variant,,ENST00000474578,;AARSD1,downstream_gene_variant,,ENST00000492036,;AARSD1,upstream_gene_variant,,ENST00000591096,;AARSD1,upstream_gene_variant,,ENST00000587023,;AARSD1,upstream_gene_variant,,ENST00000592136,;AARSD1,upstream_gene_variant,,ENST00000483535,;AARSD1,upstream_gene_variant,,ENST00000486493,;	A	ENST00000421990	Transcript	missense_variant	1370/2150	1024/1761	342/586	V/L	Gtg/Ttg		1		-1	PTGES3L-AARSD1	HGNC	HGNC:43946	protein_coding	YES	CCDS45691.1	ENSP00000409924	Q9BTE6		UPI0000D4E5DF	NM_001136042.2	deleterious(0.02)		10/17		PROSITE_profiles:PS50860,hmmpanther:PTHR11777,Superfamily_domains:SSF55186																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	29	42956448	42956448	C	A	1	0	0	0	0	1	0	0	0	25	478	17	2		2	AARSD1	17	42956448	Missense_Mutation	SNP	C	C3L-01924_TP	4011319	42956448	40300993	510	8825											
USP32	0	.	GRCh38	chr17	60205596	60205596	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attggggatgaatattggtcGgggtaggtccccattggtag	8	12	16	5	1	0	1	0	1	0	0	2	2	1	2	2	7	0	2	2	7	4	6			C3L-01924_TP	C3L-01924_NB	G	G																c.3100C>T	p.Arg1034Ter	p.R1034*	ENST00000300896	26/34	246	182	64	306	306	0	strelka-varscan-mutect	USP32,stop_gained,p.Arg1034Ter,ENST00000300896,NM_032582.3;USP32,stop_gained,p.Arg704Ter,ENST00000592339,;USP32,downstream_gene_variant,,ENST00000590133,;USP32,downstream_gene_variant,,ENST00000585720,;	A	ENST00000300896	Transcript	stop_gained	3295/5171	3100/4815	1034/1604	R/*	Cga/Tga	COSM5364401	1		-1	USP32	HGNC	HGNC:19143	protein_coding	YES	CCDS32697.1	ENSP00000300896	Q8NFA0		UPI0000047AF8	NM_032582.3			26/34		PROSITE_profiles:PS50235,Pfam_domain:PF00443											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	29	60205596	60205596	G	A	1	0	0	0	0	0	1	0	0	17605	1124	39	1		1	USP32	17	60205596	Nonsense_Mutation	SNP	G	C3L-01924_TP	17249148	60205596	23051845	511	8826											
ABCA8	0	.	GRCh38	chr17	68881875	68881875	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaaccttttctaacacAgaaggagacatttctcgtgg	11	11	9	10	1	2	2	0	0	2	2	3	3	2	2	2	3	2	0	2	3	3	4			C3L-01924_TP	C3L-01924_NB	A	A																c.3934T>C	p.Cys1312Arg	p.C1312R	ENST00000586539	31/40	213	200	13	207	207	0	strelka-varscan-mutect	ABCA8,missense_variant,p.Cys1307Arg,ENST00000430352,NM_001288986.1;ABCA8,missense_variant,p.Cys1272Arg,ENST00000269080,NM_007168.3;ABCA8,missense_variant,p.Cys1312Arg,ENST00000586539,NM_001288985.1;ABCA8,non_coding_transcript_exon_variant,,ENST00000586292,;ABCA8,non_coding_transcript_exon_variant,,ENST00000589980,;ABCA8,downstream_gene_variant,,ENST00000541225,;ABCA8,upstream_gene_variant,,ENST00000591459,;ABCA8,upstream_gene_variant,,ENST00000588458,;	G	ENST00000586539	Transcript	missense_variant	4123/5088	3934/4866	1312/1621	C/R	Tgt/Cgt	COSM301603	1		-1	ABCA8	HGNC	HGNC:38	protein_coding	YES	CCDS74139.1	ENSP00000467271	O94911		UPI0002065B1E	NM_001288985.1	deleterious(0.01)		31/40		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF148,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	29	68881875	68881875	A	G	1	0	0	0	0	1	0	0	0	42	188	7	5		5	ABCA8	17	68881875	Missense_Mutation	SNP	A	C3L-01924_TP	8676279	68881875	14375566	512	8827											
ABCA8	0	.	GRCh38	chr17	68940923	68940923	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatgactatgaggatataTatacaaacaaagtagtagga	18	11	9	3	0	0	3	0	3	0	0	0	5	0	5	0	2	2	2	0	2	9	8	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.136A>G	p.Ile46Val	p.I46V	ENST00000586539	4/40	209	149	60	217	217	0	strelka-varscan-mutect	ABCA8,missense_variant,p.Ile46Val,ENST00000430352,NM_001288986.1;ABCA8,missense_variant,p.Ile46Val,ENST00000269080,NM_007168.3;ABCA8,missense_variant,p.Ile46Val,ENST00000586539,NM_001288985.1;ABCA8,missense_variant,p.Ile46Val,ENST00000585531,;ABCA8,5_prime_UTR_variant,,ENST00000615593,;ABCA9-AS1,upstream_gene_variant,,ENST00000630625,;ABCA8,non_coding_transcript_exon_variant,,ENST00000541225,;ABCA8,non_coding_transcript_exon_variant,,ENST00000428549,;ABCA8,non_coding_transcript_exon_variant,,ENST00000585850,;	C	ENST00000586539	Transcript	missense_variant	325/5088	136/4866	46/1621	I/V	Ata/Gta		1		-1	ABCA8	HGNC	HGNC:38	protein_coding	YES	CCDS74139.1	ENSP00000467271	O94911		UPI0002065B1E	NM_001288985.1	tolerated(0.11)		4/40		Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF148																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	68940923	68940923	T	C	1	0	0	0	0	1	0	0	0	42	1406	49	5		5	ABCA8	17	68940923	Missense_Mutation	SNP	T	C3L-01924_TP	59048	68940923	14316518	513	8828											
NUP85	0	.	GRCh38	chr17	75231577	75231577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatgttttattccagtttcGgttccaacatgagagagttc	9	17	8	7	1	0	2	0	1	0	1	4	3	2	2	2	1	1	4	2	1	3	7	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1183G>T	p.Gly395Cys	p.G395C	ENST00000245544	13/19	285	232	53	239	239	0	strelka-varscan-mutect	NUP85,missense_variant,p.Gly395Cys,ENST00000245544,NM_024844.4;NUP85,missense_variant,p.Gly283Cys,ENST00000579324,NM_001303276.1;NUP85,missense_variant,p.Gly350Cys,ENST00000579298,;NUP85,missense_variant,p.Gly91Cys,ENST00000583070,;NUP85,missense_variant,p.Gly168Cys,ENST00000579557,;NUP85,5_prime_UTR_variant,,ENST00000540768,;NUP85,upstream_gene_variant,,ENST00000579900,;NUP85,upstream_gene_variant,,ENST00000579838,;NUP85,downstream_gene_variant,,ENST00000449421,;NUP85,downstream_gene_variant,,ENST00000581335,;NUP85,3_prime_UTR_variant,,ENST00000581104,;NUP85,3_prime_UTR_variant,,ENST00000578830,;NUP85,3_prime_UTR_variant,,ENST00000580879,;NUP85,non_coding_transcript_exon_variant,,ENST00000577645,;NUP85,non_coding_transcript_exon_variant,,ENST00000582681,;NUP85,upstream_gene_variant,,ENST00000578987,;NUP85,upstream_gene_variant,,ENST00000578294,;NUP85,upstream_gene_variant,,ENST00000584155,;	T	ENST00000245544	Transcript	missense_variant	1254/2121	1183/1971	395/656	G/C	Ggt/Tgt		1		1	NUP85	HGNC	HGNC:8734	protein_coding	YES	CCDS32730.1	ENSP00000245544	Q9BW27		UPI00000735DC	NM_024844.4	deleterious(0.01)		13/19		Pfam_domain:PF07575,hmmpanther:PTHR13373,hmmpanther:PTHR13373:SF21																	MODERATE	1	SNV	1			1										PASS		rs1294115930	.												T	3	4	29	75231577	75231577	G	T	1	0	0	0	0	1	0	0	0	10836	1130	39	1		1	NUP85	17	75231577	Missense_Mutation	SNP	G	C3L-01924_TP	6290654	75231577	8025864	514	8829											
MYO15B	0	.	GRCh38	chr17	75594905	75594905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggagaaccaatgcacGgctggcaccaccaggggagg	11	4	15	11	1	1	2	0	1	1	1	1	4	1	3	3	6	2	3	3	6	2	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.3041G>T	p.Arg1014Leu	p.R1014L	ENST00000610510	10/63	219	196	23	237	237	0	strelka-varscan-mutect	MYO15B,missense_variant,p.Arg1014Leu,ENST00000610510,;MYO15B,upstream_gene_variant,,ENST00000633867,;MYO15B,upstream_gene_variant,,ENST00000584762,;MYO15B,downstream_gene_variant,,ENST00000582561,;MYO15B,downstream_gene_variant,,ENST00000578564,;MYO15B,missense_variant,p.Arg1014Leu,ENST00000621743,;MYO15B,3_prime_UTR_variant,,ENST00000619501,;MYO15B,3_prime_UTR_variant,,ENST00000584516,;MYO15B,non_coding_transcript_exon_variant,,ENST00000580701,;MYO15B,downstream_gene_variant,,ENST00000581612,;MYO15B,downstream_gene_variant,,ENST00000581866,;	T	ENST00000610510	Transcript	missense_variant	3041/9195	3041/9195	1014/3064	R/L	cGg/cTg		1		1	MYO15B	HGNC	HGNC:14083	protein_coding	YES		ENSP00000488624		A0A0J9YY01	UPI00064546F0		tolerated(0.18)		10/63		PROSITE_profiles:PS51456,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		rs991290816	.												T	3	4	29	75594905	75594905	G	T	1	0	0	0	0	1	0	0	0	10064	1116	39	1		1	MYO15B	17	75594905	Missense_Mutation	SNP	G	C3L-01924_TP	363328	75594905	7662536	515	8830											
AKAIN1	0	.	GRCh38	chr18	5145616	5145616	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgcccagttggatgtggtcCcggttgtcactgattctctc	5	13	11	12	2	2	1	1	1	1	0	5	2	3	2	2	3	0	2	2	3	0	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.156G>T	p.=	p.R52R	ENST00000434239	2/2	134	124	10	152	152	0	strelka-varscan-mutect	AKAIN1,synonymous_variant,p.=,ENST00000434239,NM_001145194.1;AKAIN1,synonymous_variant,p.=,ENST00000580650,;	A	ENST00000434239	Transcript	synonymous_variant	328/575	156/210	52/69	R	cgG/cgT		1		-1	AKAIN1	HGNC	HGNC:28285	protein_coding	YES	CCDS54179.1	ENSP00000399075	P0CW23		UPI0000201977	NM_001145194.1			2/2		hmmpanther:PTHR15934																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	29	5145616	5145616	C	A	1	0	0	0	0	0	0	0	1	527	610	22	2		2	AKAIN1	18	5145616	Silent	SNP	C	C3L-01924_TP		5145616	75227669	516	8831											
LAMA1	0	.	GRCh38	chr18	7012120	7012120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcgacattcgttgcactGaggaccaaagacattttcct	10	12	7	12	2	1	2	0	1	1	1	4	4	2	3	2	1	1	2	2	1	1	4			C3L-01924_TP	C3L-01924_NB	G	G																c.3382C>T	p.Gln1128Ter	p.Q1128*	ENST00000389658	24/63	329	307	22	350	350	0	strelka-varscan-mutect	LAMA1,stop_gained,p.Gln1128Ter,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	A	ENST00000389658	Transcript	stop_gained	3476/9657	3382/9228	1128/3075	Q/*	Cag/Tag	COSM4950734	1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3			24/63		Gene3D:2.10.25.10,Pfam_domain:PF00053,Prints_domain:PR00011,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,SMART_domains:SM00180											1						HIGH	1	SNV	2		1	1										PASS		.	.												A	4	1	29	7012120	7012120	G	A	1	0	0	0	0	0	1	0	0	8509	1299	45	3		3	LAMA1	18	7012120	Nonsense_Mutation	SNP	G	C3L-01924_TP	1866504	7012120	73361165	517	8832											
PIEZO2	0	.	GRCh38	chr18	10800351	10800351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacctgaggattcatcaGagggctcccaccggtactga	9	9	10	13	1	2	3	2	2	0	1	4	4	4	4	4	3	2	2	4	3	2	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1364C>A	p.Ser455Tyr	p.S455Y	ENST00000503781	11/52	215	166	49	247	246	1	strelka-varscan-mutect	PIEZO2,missense_variant,p.Ser404Tyr,ENST00000383408,;PIEZO2,missense_variant,p.Ser455Tyr,ENST00000302079,;PIEZO2,missense_variant,p.Ser455Tyr,ENST00000580640,;PIEZO2,missense_variant,p.Ser455Tyr,ENST00000503781,NM_022068.3;PIEZO2,missense_variant,p.Ser165Tyr,ENST00000579112,;PIEZO2,missense_variant,p.Ser455Tyr,ENST00000582913,;	T	ENST00000503781	Transcript	missense_variant	1364/8259	1364/8259	455/2752	S/Y	tCt/tAt		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3	deleterious(0)		11/52		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	10800351	10800351	G	T	1	0	0	0	0	1	0	0	0	11975	942	33	2		2	PIEZO2	18	10800351	Missense_Mutation	SNP	G	C3L-01924_TP	3788231	10800351	69572934	518	8833											
ANKRD30B	0	.	GRCh38	chr18	14797810	14797810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggaaagtttctcttcCaaataaagccttagaattaa	16	12	7	6	0	1	1	0	0	1	1	3	3	2	3	2	2	1	1	2	2	8	5	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1985C>A	p.Pro662Gln	p.P662Q	ENST00000358984	20/36	153	102	51	208	206	2	strelka-varscan-mutect	ANKRD30B,missense_variant,p.Pro662Gln,ENST00000358984,NM_001145029.1;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000579292,;ANKRD30B,3_prime_UTR_variant,,ENST00000580206,;	A	ENST00000358984	Transcript	missense_variant	2165/4359	1985/4179	662/1392	P/Q	cCa/cAa		1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1	tolerated(0.47)		20/36																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	14797810	14797810	C	A	1	0	0	0	0	1	0	0	0	762	594	21	2		2	ANKRD30B	18	14797810	Missense_Mutation	SNP	C	C3L-01924_TP	3997459	14797810	65575475	519	8834											
ZNF521	0	.	GRCh38	chr18	25225235	25225235	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaaagtttccatagtgtAggctgccccacaaatgtcgc	11	9	9	12	1	0	0	0	0	0	0	2	0	1	0	3	1	2	4	3	1	4	3	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.2683T>A	p.Tyr895Asn	p.Y895N	ENST00000361524	4/8	241	165	76	317	317	0	strelka-varscan-mutect	ZNF521,missense_variant,p.Tyr895Asn,ENST00000361524,NM_015461.2;ZNF521,missense_variant,p.Tyr675Asn,ENST00000584787,NM_001308225.1;ZNF521,missense_variant,p.Tyr895Asn,ENST00000538137,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,missense_variant,p.Tyr895Asn,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	T	ENST00000361524	Transcript	missense_variant	2832/4871	2683/3936	895/1311	Y/N	Tac/Aac		1		-1	ZNF521	HGNC	HGNC:24605	protein_coding	YES	CCDS32806.1	ENSP00000354794	Q96K83		UPI000006F982	NM_015461.2	deleterious(0.01)		4/8		PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF222,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	25225235	25225235	A	T	1	0	0	0	0	1	0	0	0	18537	420	15	4		4	ZNF521	18	25225235	Missense_Mutation	SNP	A	C3L-01924_TP	10427425	25225235	55148050	520	8835											
DSG1	0	.	GRCh38	chr18	31339795	31339795	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatattaacattcaaagttTtggtaatgacgacaggacta	16	13	7	5	1	1	1	1	1	0	0	1	3	1	2	0	2	1	2	0	2	6	8	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1457T>C	p.Phe486Ser	p.F486S	ENST00000257192	11/15	135	98	37	199	199	0	strelka-varscan-mutect	DSG1,missense_variant,p.Phe486Ser,ENST00000257192,NM_001942.3;DSG1,upstream_gene_variant,,ENST00000462981,;DSG1-AS1,downstream_gene_variant,,ENST00000581856,;DSG1-AS1,downstream_gene_variant,,ENST00000578119,;	C	ENST00000257192	Transcript	missense_variant	1669/5045	1457/3150	486/1049	F/S	tTt/tCt		1		1	DSG1	HGNC	HGNC:3048	protein_coding	YES	CCDS11896.1	ENSP00000257192	Q02413		UPI000013CF4C	NM_001942.3	tolerated(0.55)		11/15		PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF9,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	31339795	31339795	T	C	1	0	0	0	0	1	0	0	0	4597	1841	64	5		5	DSG1	18	31339795	Missense_Mutation	SNP	T	C3L-01924_TP	6114560	31339795	49033490	521	8836											
GAREM1	0	.	GRCh38	chr18	32268559	32268559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctagggtaactataactcCtgcttggatccagcaggaag	11	10	11	9	0	1	0	0	0	1	0	3	2	3	2	2	3	4	3	2	3	5	5	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1943G>C	p.Arg648Thr	p.R648T	ENST00000269209	6/6	237	161	76	368	368	0	strelka-varscan-mutect	GAREM1,missense_variant,p.Arg647Thr,ENST00000399218,NM_022751.2;GAREM1,missense_variant,p.Arg648Thr,ENST00000269209,NM_001242409.1;GAREM1,intron_variant,,ENST00000583696,;	G	ENST00000269209	Transcript	missense_variant	1947/3006	1943/2631	648/876	R/T	aGg/aCg		1		-1	GAREM1	HGNC	HGNC:26136	protein_coding	YES	CCDS56057.1	ENSP00000269209	Q9H706		UPI00005A72DA	NM_001242409.1	tolerated(0.08)		6/6		hmmpanther:PTHR14454,hmmpanther:PTHR14454:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	32268559	32268559	C	G	1	0	0	0	0	1	0	0	0	6109	681	24	4		4	GAREM1	18	32268559	Missense_Mutation	SNP	C	C3L-01924_TP	928764	32268559	48104726	522	8837											
KIAA1328	0	.	GRCh38	chr18	37160293	37160293	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagtggagagaataggaaGgagaggaagacagttgggtt	16	6	17	2	0	0	3	0	0	0	3	0	8	0	6	0	5	1	2	0	5	5	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1326G>A	p.=	p.K442K	ENST00000280020	8/10	178	125	53	257	256	1	strelka-varscan-mutect	KIAA1328,synonymous_variant,p.=,ENST00000591619,;KIAA1328,synonymous_variant,p.=,ENST00000280020,NM_020776.1;KIAA1328,synonymous_variant,p.=,ENST00000587139,;KIAA1328,synonymous_variant,p.=,ENST00000586135,;KIAA1328,3_prime_UTR_variant,,ENST00000590617,;KIAA1328,3_prime_UTR_variant,,ENST00000592611,;	A	ENST00000280020	Transcript	synonymous_variant	1348/4853	1326/1734	442/577	K	aaG/aaA		1		1	KIAA1328	HGNC	HGNC:29248	protein_coding	YES	CCDS45855.1	ENSP00000280020	Q86T90		UPI00001C1FF0	NM_020776.1			8/10		hmmpanther:PTHR28375,hmmpanther:PTHR28375:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	29	37160293	37160293	G	A	1	0	0	0	0	0	0	0	1	8113	991	35	3		3	KIAA1328	18	37160293	Silent	SNP	G	C3L-01924_TP	4891734	37160293	43212992	523	8838											
MYO5B	0	.	GRCh38	chr18	49902666	49902666	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagacgtttcagatgctcTgctgagcgggcctcaatcct	7	12	11	11	2	3	3	2	2	1	2	4	4	4	3	2	1	3	3	2	1	1	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.2739A>G	p.=	p.A913A	ENST00000285039	21/40	428	297	131	464	464	0	strelka-varscan-mutect	MYO5B,synonymous_variant,p.=,ENST00000285039,NM_001080467.2;MYO5B,synonymous_variant,p.=,ENST00000324581,;	C	ENST00000285039	Transcript	synonymous_variant	3039/9505	2739/5547	913/1848	A	gcA/gcG		1		-1	MYO5B	HGNC	HGNC:7603	protein_coding	YES	CCDS42436.1	ENSP00000285039	Q9ULV0		UPI00001D7B21	NM_001080467.2			21/40		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	29	49902666	49902666	T	C	1	0	0	0	0	0	0	0	1	10080	1567	55	5		5	MYO5B	18	49902666	Silent	SNP	T	C3L-01924_TP	12742373	49902666	30470619	524	8839											
ST8SIA3	0	.	GRCh38	chr18	57357443	57357443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtccaactggcttggcCgggaaatataatgcaacatg	15	8	10	8	1	0	0	0	0	0	0	1	1	1	1	2	3	3	2	2	3	7	3	rs145313732		C3L-01924_TP	C3L-01924_NB	C	C																c.833C>A	p.Pro278Gln	p.P278Q	ENST00000324000	3/4	95	89	6	135	135	0	strelka-varscan-mutect	ST8SIA3,missense_variant,p.Pro278Gln,ENST00000324000,NM_015879.2;ST8SIA3,missense_variant,p.Pro98Gln,ENST00000586360,;	A	ENST00000324000	Transcript	missense_variant	2867/11833	833/1143	278/380	P/Q	cCg/cAg	rs145313732	1		1	ST8SIA3	HGNC	HGNC:14269	protein_coding	YES	CCDS32834.1	ENSP00000320431	O43173		UPI000014126D	NM_015879.2			3/4		hmmpanther:PTHR11987:SF36,hmmpanther:PTHR11987,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557																	MODERATE	1	SNV	1			1										PASS		rs35655447	.												A	3	1	29	57357443	57357443	C	A	1	0	0	0	0	1	0	0	0	15611	652	23	1		1	ST8SIA3	18	57357443	Missense_Mutation	SNP	C	C3L-01924_TP	7454777	57357443	23015842	525	8840											
SERPINB13	0	.	GRCh38	chr18	63595179	63595179	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaacgacatcgatggcctgGagaaggtaaacgcttacacc	13	6	10	12	3	0	1	0	0	0	1	1	4	0	1	3	3	3	2	3	3	5	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.793G>T	p.Glu265Ter	p.E265*	ENST00000269489	7/8	73	51	22	83	83	0	strelka-varscan-mutect	SERPINB13,stop_gained,p.Glu265Ter,ENST00000269489,NM_001307923.1;SERPINB13,stop_gained,p.Glu256Ter,ENST00000344731,NM_012397.3;SERPINB13,stop_gained,p.Glu105Ter,ENST00000415733,;SERPINB13,downstream_gene_variant,,ENST00000431153,;SERPINB13,3_prime_UTR_variant,,ENST00000438844,;	T	ENST00000269489	Transcript	stop_gained	961/3206	793/1203	265/400	E/*	Gag/Tag		1		1	SERPINB13	HGNC	HGNC:8944	protein_coding	YES	CCDS77195.1	ENSP00000269489		A0A0A0MQW3	UPI000004EE0A	NM_001307923.1			7/8		Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF161,SMART_domains:SM00093,Superfamily_domains:SSF56574																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	29	63595179	63595179	G	T	1	0	0	0	0	0	1	0	0	14376	1188	41	2		2	SERPINB13	18	63595179	Nonsense_Mutation	SNP	G	C3L-01924_TP	6237736	63595179	16778106	526	8841											
SERPINB13	0	.	GRCh38	chr18	63597241	63597241	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgccaccggcataGgctttactgtcacatccgcc	7	9	9	16	2	1	0	1	0	0	0	2	0	2	0	4	2	4	4	4	2	2	3	rs369861529		C3L-01924_TP	C3L-01924_NB	G	G																c.1081G>T	p.Gly361Cys	p.G361C	ENST00000269489	8/8	167	131	36	212	211	1	strelka-varscan-mutect	SERPINB13,missense_variant,p.Gly361Cys,ENST00000269489,NM_001307923.1;SERPINB13,missense_variant,p.Gly352Cys,ENST00000344731,NM_012397.3;SERPINB13,intron_variant,,ENST00000415733,;SERPINB13,downstream_gene_variant,,ENST00000431153,;SERPINB13,3_prime_UTR_variant,,ENST00000438844,;	T	ENST00000269489	Transcript	missense_variant	1249/3206	1081/1203	361/400	G/C	Ggc/Tgc	rs369861529,COSM564073	1		1	SERPINB13	HGNC	HGNC:8944	protein_coding	YES	CCDS77195.1	ENSP00000269489		A0A0A0MQW3	UPI000004EE0A	NM_001307923.1	tolerated(0.05)		8/8		Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF161,SMART_domains:SM00093,Superfamily_domains:SSF56574											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs369861529	.												T	3	4	29	63597241	63597241	G	T	1	0	0	0	0	1	0	0	0	14376	1000	35	2		2	SERPINB13	18	63597241	Missense_Mutation	SNP	G	C3L-01924_TP	2062	63597241	16776044	527	8842											
GZMM	0	.	GRCh38	chr19	549136	549136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggaacggcagcctctcccCcagcatggtctgcctggcgg	5	7	13	16	2	2	0	0	0	2	0	3	1	2	1	4	5	4	2	4	5	1	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.563C>A	p.Pro188His	p.P188H	ENST00000264553	4/5	120	88	32	90	90	0	strelka-varscan-mutect	GZMM,missense_variant,p.Pro149His,ENST00000592501,NM_001258351.1;GZMM,missense_variant,p.Pro188His,ENST00000264553,NM_005317.3;	A	ENST00000264553	Transcript	missense_variant	600/940	563/774	188/257	P/H	cCc/cAc		1		1	GZMM	HGNC	HGNC:4712	protein_coding	YES	CCDS12031.1	ENSP00000264553	P51124		UPI000013D531	NM_005317.3	tolerated(0.05)		4/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF132,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs1306542422	.												A	3	1	29	549136	549136	C	A	1	0	0	0	0	1	0	0	0	6801	623	22	2		2	GZMM	19	549136	Missense_Mutation	SNP	C	C3L-01924_TP		549136	58068480	528	8843											
PTBP1	0	.	GRCh38	chr19	804565	804565	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgcaggcggtgaactcgGtccagtcggggaacctggcc	6	6	15	14	3	0	1	0	1	0	0	3	2	1	2	4	6	3	1	4	6	2	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.469G>C	p.Val157Leu	p.V157L	ENST00000356948	6/15	85	69	16	98	98	0	strelka-varscan-mutect	PTBP1,missense_variant,p.Val188Leu,ENST00000635647,;PTBP1,missense_variant,p.Val157Leu,ENST00000356948,NM_002819.4;PTBP1,missense_variant,p.Val157Leu,ENST00000394601,NM_031990.3;PTBP1,missense_variant,p.Val157Leu,ENST00000349038,NM_031991.3;PTBP1,missense_variant,p.Val127Leu,ENST00000350092,;PTBP1,missense_variant,p.Val154Leu,ENST00000589575,;PTBP1,missense_variant,p.Val127Leu,ENST00000586481,;PTBP1,intron_variant,,ENST00000627714,;PTBP1,intron_variant,,ENST00000587191,;PTBP1,intron_variant,,ENST00000585535,;PTBP1,upstream_gene_variant,,ENST00000585956,;PTBP1,downstream_gene_variant,,ENST00000587094,;PTBP1,upstream_gene_variant,,ENST00000577608,;PTBP1,missense_variant,p.Val29Leu,ENST00000621737,;PTBP1,non_coding_transcript_exon_variant,,ENST00000586944,;PTBP1,non_coding_transcript_exon_variant,,ENST00000592113,;PTBP1,non_coding_transcript_exon_variant,,ENST00000590887,;PTBP1,upstream_gene_variant,,ENST00000585856,;PTBP1,upstream_gene_variant,,ENST00000585932,;PTBP1,upstream_gene_variant,,ENST00000592804,;PTBP1,upstream_gene_variant,,ENST00000589883,;PTBP1,upstream_gene_variant,,ENST00000587136,;	C	ENST00000356948	Transcript	missense_variant	892/3598	469/1674	157/557	V/L	Gtc/Ctc		1		1	PTBP1	HGNC	HGNC:9583	protein_coding	YES	CCDS42456.1	ENSP00000349428	P26599		UPI00000720B7	NM_002819.4	tolerated(0.12)		6/15		TIGRFAM_domain:TIGR01649																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	804565	804565	G	C	1	0	0	0	0	1	0	0	0	12877	1261	44	4		4	PTBP1	19	804565	Missense_Mutation	SNP	G	C3L-01924_TP	255429	804565	57813051	529	8844											
TLE2	0	.	GRCh38	chr19	3009639	3009639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggtctccgttgagagtgCtgtgggagcccaggctgaag	8	8	17	8	1	1	3	0	2	1	2	2	5	1	4	2	3	2	3	2	3	1	1			C3L-01924_TP	C3L-01924_NB	C	C																c.1079G>T	p.Ser360Ile	p.S360I	ENST00000590536	13/20	199	181	18	185	185	0	strelka-varscan-mutect	TLE2,missense_variant,p.Ser359Ile,ENST00000262953,NM_003260.4;TLE2,missense_variant,p.Ser373Ile,ENST00000591529,NM_001144761.1;TLE2,missense_variant,p.Ser373Ile,ENST00000426948,;TLE2,missense_variant,p.Ser360Ile,ENST00000590536,NM_001300846.1;TLE2,missense_variant,p.Ser237Ile,ENST00000455444,;TLE2,missense_variant,p.Ser237Ile,ENST00000443826,NM_001144762.1;TLE2,intron_variant,,ENST00000589364,;TLE2,intron_variant,,ENST00000586422,;TLE2,downstream_gene_variant,,ENST00000587137,;TLE2,downstream_gene_variant,,ENST00000591457,;TLE2,downstream_gene_variant,,ENST00000587217,;TLE2,downstream_gene_variant,,ENST00000589205,;TLE2,downstream_gene_variant,,ENST00000590183,;TLE2,upstream_gene_variant,,ENST00000586492,;TLE2,non_coding_transcript_exon_variant,,ENST00000587672,;TLE2,downstream_gene_variant,,ENST00000590101,;	A	ENST00000590536	Transcript	missense_variant	1188/2344	1079/2235	360/744	S/I	aGc/aTc	COSM2750011	1		-1	TLE2	HGNC	HGNC:11838	protein_coding	YES	CCDS74255.1	ENSP00000466542		K7EMK7	UPI0000203012	NM_001300846.1	deleterious(0.04)		13/20		hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF4											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	29	3009639	3009639	C	A	1	0	0	0	0	1	0	0	0	16385	797	28	2		2	TLE2	19	3009639	Missense_Mutation	SNP	C	C3L-01924_TP	2205074	3009639	55607977	530	8845											
TBXA2R	0	.	GRCh38	chr19	3599898	3599898	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatgatccccaggagcTgagccatcatctccacctcg	9	7	7	18	1	2	2	1	2	1	0	5	3	3	3	7	1	2	1	7	1	0	0	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.737A>T	p.Gln246Leu	p.Q246L	ENST00000411851	2/4	229	161	68	242	241	1	strelka-varscan-mutect	TBXA2R,missense_variant,p.Gln246Leu,ENST00000375190,NM_001060.5;TBXA2R,missense_variant,p.Gln246Leu,ENST00000411851,NM_201636.2;TBXA2R,intron_variant,,ENST00000589966,;TBXA2R,non_coding_transcript_exon_variant,,ENST00000587717,;	A	ENST00000411851	Transcript	missense_variant	951/1494	737/1224	246/407	Q/L	cAg/cTg		1		-1	TBXA2R	HGNC	HGNC:11608	protein_coding	YES	CCDS54198.1	ENSP00000393333	P21731		UPI00000711C4	NM_201636.2	deleterious(0)		2/4		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR01788,PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF5,Superfamily_domains:SSF81321																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	29	3599898	3599898	T	A	1	0	0	0	0	1	0	0	0	16067	1580	55	4		4	TBXA2R	19	3599898	Missense_Mutation	SNP	T	C3L-01924_TP	590259	3599898	55017718	531	8846											
DPP9	0	.	GRCh38	chr19	4694686	4694686	+	Missense_Mutation	SNP	C	C	A																															ccggggctgaagggctcactCcaatcgtagccctgggattt																								novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1491G>T	p.Trp497Cys	p.W497C	ENST00000262960	13/22	199	185	14	162	162	0	strelka-varscan-mutect	DPP9,missense_variant,p.Trp497Cys,ENST00000262960,NM_139159.4;DPP9,missense_variant,p.Trp468Cys,ENST00000594671,;DPP9,missense_variant,p.Trp468Cys,ENST00000598800,;DPP9,missense_variant,p.Trp497Cys,ENST00000597849,;DPP9,upstream_gene_variant,,ENST00000595327,;DPP9,3_prime_UTR_variant,,ENST00000599163,;DPP9,non_coding_transcript_exon_variant,,ENST00000597145,;DPP9,non_coding_transcript_exon_variant,,ENST00000601764,;DPP9,non_coding_transcript_exon_variant,,ENST00000597253,;DPP9,non_coding_transcript_exon_variant,,ENST00000599998,;	A	ENST00000262960	Transcript	missense_variant	1769/4295	1491/2679	497/892	W/C	tgG/tgT		1		-1	DPP9	HGNC	HGNC:18648	protein_coding	YES	CCDS45928.1	ENSP00000262960	Q86TI2		UPI000004DB00	NM_139159.4	tolerated(0.09)		13/22		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF109,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	4694686	4694686	C	A	1	0	0	0	0	1	0	0	0	4548	856	30	2		2	DPP9	19	4694686	Missense_Mutation	SNP	C	C3L-01924_TP	1094788	4694686	53922930	532	8847	201	2									
DPP9	0	.	GRCh38	chr19	4694687	4694687	+	Missense_Mutation	SNP	C	C	A																															cggggctgaagggctcactcCaatcgtagccctgggatttt																								novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1490G>T	p.Trp497Leu	p.W497L	ENST00000262960	13/22	198	185	13	159	159	0	strelka-varscan-mutect	DPP9,missense_variant,p.Trp497Leu,ENST00000262960,NM_139159.4;DPP9,missense_variant,p.Trp468Leu,ENST00000594671,;DPP9,missense_variant,p.Trp468Leu,ENST00000598800,;DPP9,missense_variant,p.Trp497Leu,ENST00000597849,;DPP9,upstream_gene_variant,,ENST00000595327,;DPP9,3_prime_UTR_variant,,ENST00000599163,;DPP9,non_coding_transcript_exon_variant,,ENST00000597145,;DPP9,non_coding_transcript_exon_variant,,ENST00000601764,;DPP9,non_coding_transcript_exon_variant,,ENST00000597253,;DPP9,non_coding_transcript_exon_variant,,ENST00000599998,;	A	ENST00000262960	Transcript	missense_variant	1768/4295	1490/2679	497/892	W/L	tGg/tTg		1		-1	DPP9	HGNC	HGNC:18648	protein_coding	YES	CCDS45928.1	ENSP00000262960	Q86TI2		UPI000004DB00	NM_139159.4	tolerated(0.45)		13/22		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF109,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	4694687	4694687	C	A	1	0	0	0	0	1	0	0	0	4548	595	21	2		2	DPP9	19	4694687	Missense_Mutation	SNP	C	C3L-01924_TP	1	4694687	53922929	533	8848	201	2									
TICAM1	0	.	GRCh38	chr19	4816985	4816985	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttcacctggtgcaggcTcaggcgacagtcgaagttgg	7	10	15	9	2	2	0	2	0	0	0	3	2	2	0	1	5	1	4	1	5	1	3	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1393A>T	p.Ser465Cys	p.S465C	ENST00000248244	2/2	293	232	61	304	304	0	strelka-varscan-mutect	TICAM1,missense_variant,p.Ser465Cys,ENST00000248244,NM_182919.3;TICAM1,missense_variant,p.Ser326Cys,ENST00000621756,;	A	ENST00000248244	Transcript	missense_variant	1623/2676	1393/2139	465/712	S/C	Agc/Tgc		1		-1	TICAM1	HGNC	HGNC:18348	protein_coding	YES	CCDS12136.1	ENSP00000248244	Q8IUC6		UPI000000D72E	NM_182919.3	tolerated(0.13)		2/2		PIRSF_domain:PIRSF037744																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	4816985	4816985	T	A	1	0	0	0	0	1	0	0	0	16326	1551	54	4		4	TICAM1	19	4816985	Missense_Mutation	SNP	T	C3L-01924_TP	122298	4816985	53800631	534	8849											
CATSPERD	0	.	GRCh38	chr19	5778544	5778544	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcacgcggccgcaggatCaagaagtgtgcgacacagct	12	4	13	12	4	1	1	1	0	0	1	1	3	1	2	1	2	3	3	1	2	2	0	rs562529395		C3L-01924_TP	C3L-01924_NB	C	C																c.2265C>A	p.=	p.I755I	ENST00000381624	22/22	323	251	72	330	330	0	strelka-varscan-mutect	CATSPERD,synonymous_variant,p.=,ENST00000381624,NM_152784.3;PRR22,downstream_gene_variant,,ENST00000390672,;PRR22,downstream_gene_variant,,ENST00000419421,NM_001134316.1;CATSPERD,non_coding_transcript_exon_variant,,ENST00000309164,;CATSPERD,downstream_gene_variant,,ENST00000448307,;	A	ENST00000381624	Transcript	synonymous_variant	2326/2516	2265/2397	755/798	I	atC/atA	rs562529395	1		1	CATSPERD	HGNC	HGNC:28598	protein_coding	YES	CCDS12149.2	ENSP00000371037	Q86XM0		UPI000059D641	NM_152784.3			22/22		Pfam_domain:PF15020,hmmpanther:PTHR33722,hmmpanther:PTHR33722:SF1																	LOW	1	SNV	1			1										PASS		rs562529395	.												A	2	1	29	5778544	5778544	C	A	1	0	0	0	0	0	0	0	1	2392	816	29	2		2	CATSPERD	19	5778544	Silent	SNP	C	C3L-01924_TP	961559	5778544	52839072	535	8850											
VAV1	0	.	GRCh38	chr19	6828101	6828101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctcagagagccaacaacgGgaggttcaccctgcgggacc	10	6	12	13	2	2	1	2	0	1	1	3	4	2	3	3	3	4	1	3	3	2	2			C3L-01924_TP	C3L-01924_NB	G	G																c.953G>T	p.Gly318Val	p.G318V	ENST00000602142	10/27	159	127	32	155	155	0	strelka-varscan-mutect	VAV1,missense_variant,p.Gly318Val,ENST00000304076,NM_001258206.1;VAV1,missense_variant,p.Gly286Val,ENST00000596764,NM_001258207.1;VAV1,missense_variant,p.Gly263Val,ENST00000599806,;VAV1,missense_variant,p.Gly262Val,ENST00000539284,;VAV1,missense_variant,p.Gly318Val,ENST00000602142,NM_005428.3;VAV1,upstream_gene_variant,,ENST00000601452,;VAV1,downstream_gene_variant,,ENST00000594082,;VAV1,upstream_gene_variant,,ENST00000600396,;VAV1,upstream_gene_variant,,ENST00000597967,;	T	ENST00000602142	Transcript	missense_variant	1035/2620	953/2538	318/845	G/V	gGg/gTg	COSM5541528,COSM5541529	1		1	VAV1	HGNC	HGNC:12657	protein_coding	YES	CCDS12174.1	ENSP00000472929	P15498		UPI0000138213	NM_005428.3	deleterious(0.01)		10/27		PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF97,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	29	6828101	6828101	G	T	1	0	0	0	0	1	0	0	0	17676	1232	43	2		2	VAV1	19	6828101	Missense_Mutation	SNP	G	C3L-01924_TP	1049557	6828101	51789515	536	8851											
MUC16	0	.	GRCh38	chr19	8917702	8917702	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcatccactgccgtggcTgagctatccttctctggcct	5	12	10	14	1	1	1	0	1	1	0	4	1	3	1	4	3	2	3	4	3	1	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.36414A>C	p.=	p.S12138S	ENST00000397910	11/84	178	162	16	171	171	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	G	ENST00000397910	Transcript	synonymous_variant	36618/43816	36414/43524	12138/14507	S	tcA/tcC		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			11/84		PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Gene3D:1ivzA00,Pfam_domain:PF01390,SMART_domains:SM00200,Superfamily_domains:0047452																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	29	8917702	8917702	T	G	1	0	0	0	0	0	0	0	1	9972	1567	55	5		5	MUC16	19	8917702	Silent	SNP	T	C3L-01924_TP	2089601	8917702	49699914	537	8852											
MUC16	0	.	GRCh38	chr19	8972910	8972910	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagaaagtgccactgtgatCgaaccttcataggttgtatt	11	13	10	7	1	1	2	1	1	0	1	2	3	1	2	2	1	2	3	2	1	5	6			C3L-01924_TP	C3L-01924_NB	C	C																c.8229G>A	p.=	p.S2743S	ENST00000397910	1/84	141	128	13	196	195	1	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	synonymous_variant	8433/43816	8229/43524	2743/14507	S	tcG/tcA	COSM3543436,COSM3543437	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84													1,1						LOW	1	SNV	5		1,1	1										PASS		rs1364992085	.												T	2	4	29	8972910	8972910	C	T	1	0	0	0	0	0	0	0	1	9972	871	31	1		1	MUC16	19	8972910	Silent	SNP	C	C3L-01924_TP	55208	8972910	49644706	538	8853											
MUC16	0	.	GRCh38	chr19	8976678	8976678	+	Silent	SNP	A	A	T																															gtggacataggtggaaaaatAgcaaatgtactcatgggtga																										C3L-01924_TP	C3L-01924_NB	A	A																c.4461T>A	p.=	p.A1487A	ENST00000397910	1/84	192	156	36	281	281	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	synonymous_variant	4665/43816	4461/43524	1487/14507	A	gcT/gcA	COSM4083536,COSM4083537	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84													1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												T	2	4	29	8976678	8976678	A	T	1	0	0	0	0	0	0	0	1	9972	407	15	4		4	MUC16	19	8976678	Silent	SNP	A	C3L-01924_TP	3768	8976678	49640938	539	8854	202	2									
MUC16	0	.	GRCh38	chr19	8976679	8976679	+	Missense_Mutation	SNP	G	G	T																															tggacataggtggaaaaataGcaaatgtactcatgggtgaa																								novel		C3L-01924_TP	C3L-01924_NB	G	G																c.4460C>A	p.Ala1487Asp	p.A1487D	ENST00000397910	1/84	195	158	37	278	276	2	strelka-varscan-mutect	MUC16,missense_variant,p.Ala1487Asp,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	4664/43816	4460/43524	1487/14507	A/D	gCt/gAt		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	29	8976679	8976679	G	T	1	0	0	0	0	1	0	0	0	9972	971	34	2		2	MUC16	19	8976679	Missense_Mutation	SNP	G	C3L-01924_TP	1	8976679	49640937	540	8855	202	2									
MUC16	0	.	GRCh38	chr19	8976891	8976891	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagggattactacagagacAggtcctggagctgactgtgt	10	10	14	7	0	0	2	0	1	0	1	1	5	1	4	1	3	3	2	1	3	3	3	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.4248T>A	p.=	p.P1416P	ENST00000397910	1/84	228	183	45	291	291	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	synonymous_variant	4452/43816	4248/43524	1416/14507	P	ccT/ccA		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	29	8976891	8976891	A	T	1	0	0	0	0	0	0	0	1	9972	175	7	4		4	MUC16	19	8976891	Silent	SNP	A	C3L-01924_TP	212	8976891	49640725	541	8856											
MUC16	0	.	GRCh38	chr19	8980353	8980353	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagaggagaagggataTccagtggttgatagaatcag	14	8	15	4	0	2	4	2	1	0	3	3	7	3	5	1	4	0	1	1	4	4	3	rs773941579		C3L-01924_TP	C3L-01924_NB	T	T																c.786A>G	p.=	p.G262G	ENST00000397910	1/84	163	151	12	215	215	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	C	ENST00000397910	Transcript	synonymous_variant	990/43816	786/43524	262/14507	G	ggA/ggG	rs773941579,COSM3363129,COSM3363130	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84													0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs773941579	.												C	2	2	29	8980353	8980353	T	C	1	0	0	0	0	0	0	0	1	9972	1422	50	5		5	MUC16	19	8980353	Silent	SNP	T	C3L-01924_TP	3462	8980353	49637263	542	8857											
ZNF562	0	.	GRCh38	chr19	9659425	9659425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccatcgttcctatctttGtcttttcttcaaaaggacag	9	16	5	11	1	4	0	1	0	3	0	6	1	5	1	2	1	1	1	2	1	4	7	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.68C>A	p.Thr23Lys	p.T23K	ENST00000453372	3/6	107	94	13	150	150	0	strelka-varscan-mutect	ZNF562,missense_variant,p.Thr23Lys,ENST00000453372,NM_001130032.1,NM_001130031.1;ZNF562,missense_variant,p.Thr23Lys,ENST00000590155,NM_001300885.1;ZNF562,missense_variant,p.Thr23Lys,ENST00000587392,;ZNF562,missense_variant,p.Thr23Lys,ENST00000589542,;ZNF562,intron_variant,,ENST00000293648,NM_017656.3;ZNF562,intron_variant,,ENST00000588653,;ZNF562,downstream_gene_variant,,ENST00000585350,;ZNF562,missense_variant,p.Thr23Lys,ENST00000585688,;	T	ENST00000453372	Transcript	missense_variant	228/2111	68/1281	23/426	T/K	aCa/aAa		1		-1	ZNF562	HGNC	HGNC:25950	protein_coding	YES	CCDS45956.1	ENSP00000410734	Q6V9R5	A0A024R7A3	UPI000067CA26	NM_001130032.1,NM_001130031.1	tolerated(0.08)		3/6																			MODERATE	1	SNV	3			1										PASS		rs1186523581	.												T	3	4	29	9659425	9659425	G	T	1	0	0	0	0	1	0	0	0	18567	1377	48	2		2	ZNF562	19	9659425	Missense_Mutation	SNP	G	C3L-01924_TP	679072	9659425	48958191	543	8858											
C19orf38	0	.	GRCh38	chr19	10850553	10850553	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacctcagcgagcccgtgaAcgtctccttcccaggtaagg	9	7	11	14	3	2	2	1	1	1	1	4	3	3	2	4	2	3	1	4	2	2	2	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.326A>T	p.Asn109Ile	p.N109I	ENST00000397820	2/7	294	249	45	255	254	1	strelka-varscan-mutect	C19orf38,missense_variant,p.Asn109Ile,ENST00000397820,NM_001136482.1;C19orf38,missense_variant,p.Asn109Ile,ENST00000592854,;C19orf38,non_coding_transcript_exon_variant,,ENST00000587494,;	T	ENST00000397820	Transcript	missense_variant	433/1223	326/693	109/230	N/I	aAc/aTc		1		1	C19orf38	HGNC	HGNC:34073	protein_coding	YES	CCDS45970.1	ENSP00000380920	A8MVS5		UPI0000160991	NM_001136482.1	tolerated(0.18)		2/7		hmmpanther:PTHR36859,Gene3D:2.60.40.10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	10850553	10850553	A	T	1	0	0	0	0	1	0	0	0	1909	43	2	4		4	C19orf38	19	10850553	Missense_Mutation	SNP	A	C3L-01924_TP	1191128	10850553	47767063	544	8859											
ECSIT	0	.	GRCh38	chr19	11514120	11514120	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagggcaccagagccttGgtgggcctctgccggggttc	6	8	15	12	1	2	1	1	0	1	1	3	1	2	1	4	5	2	2	4	5	1	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.198C>A	p.=	p.T66T	ENST00000270517	3/8	124	99	25	142	141	1	strelka-varscan-mutect	ECSIT,synonymous_variant,p.=,ENST00000270517,NM_016581.4;ECSIT,synonymous_variant,p.=,ENST00000252440,NM_001142464.2;ECSIT,synonymous_variant,p.=,ENST00000591104,NM_001243204.1;ECSIT,synonymous_variant,p.=,ENST00000590480,;ECSIT,5_prime_UTR_variant,,ENST00000592312,;ECSIT,5_prime_UTR_variant,,ENST00000585318,;ECSIT,5_prime_UTR_variant,,ENST00000592665,;ECSIT,intron_variant,,ENST00000417981,NM_001142465.2;ECSIT,intron_variant,,ENST00000588998,;ECSIT,downstream_gene_variant,,ENST00000586149,;RN7SL833P,downstream_gene_variant,,ENST00000498758,;ECSIT,upstream_gene_variant,,ENST00000591352,;ECSIT,upstream_gene_variant,,ENST00000592571,;ECSIT,upstream_gene_variant,,ENST00000593231,;	T	ENST00000270517	Transcript	synonymous_variant	334/1700	198/1296	66/431	T	acC/acA		1		-1	ECSIT	HGNC	HGNC:29548	protein_coding	YES	CCDS12262.1	ENSP00000270517	Q9BQ95		UPI0000072F31	NM_016581.4			3/8		hmmpanther:PTHR13113,Pfam_domain:PF06239																	LOW	1	SNV	1			1										PASS		rs1402053357	.												T	2	4	29	11514120	11514120	G	T	1	0	0	0	0	0	0	0	1	4728	1335	47	2		2	ECSIT	19	11514120	Silent	SNP	G	C3L-01924_TP	663567	11514120	47103496	545	8860											
ZNF20	0	.	GRCh38	chr19	12135779	12135779	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattcttacctacagaggtCaggttcttgaaggtttcctg	8	15	9	9	0	4	2	2	1	2	1	5	2	5	2	2	3	2	2	2	3	3	6	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.129G>T	p.=	p.L43L	ENST00000334213	2/4	235	210	25	266	266	0	strelka-varscan-mutect	ZNF20,synonymous_variant,p.=,ENST00000334213,NM_001203250.1,NM_021143.3;ZNF20,synonymous_variant,p.=,ENST00000418866,;ZNF20,synonymous_variant,p.=,ENST00000600335,;ZNF20,non_coding_transcript_exon_variant,,ENST00000485451,;ZNF788,non_coding_transcript_exon_variant,,ENST00000601686,;ZNF20,non_coding_transcript_exon_variant,,ENST00000480770,;ZNF20,downstream_gene_variant,,ENST00000480477,;ZNF625-ZNF20,3_prime_UTR_variant,,ENST00000430024,;ZNF20,3_prime_UTR_variant,,ENST00000454949,;ZNF20,non_coding_transcript_exon_variant,,ENST00000478942,;ZNF625-ZNF20,downstream_gene_variant,,ENST00000434822,;	A	ENST00000334213	Transcript	synonymous_variant	354/3061	129/1599	43/532	L	ctG/ctT		1		-1	ZNF20	HGNC	HGNC:12992	protein_coding	YES	CCDS45986.1	ENSP00000335437	P17024		UPI000013C404	NM_001203250.1,NM_021143.3			2/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF162,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637																	LOW	1	SNV	1			1										PASS		rs1350474487	.												A	2	1	29	12135779	12135779	C	A	1	0	0	0	0	0	0	0	1	18338	813	29	2		2	ZNF20	19	12135779	Silent	SNP	C	C3L-01924_TP	621659	12135779	46481837	546	8861											
PRDX2	0	.	GRCh38	chr19	12800269	12800269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggatgttcagggggccCaagcctccctctttccgggg	5	8	16	12	1	2	0	1	0	1	0	4	1	4	1	4	6	1	1	4	6	1	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.288G>T	p.Leu96Phe	p.L96F	ENST00000301522	4/6	95	75	20	90	90	0	strelka-varscan-mutect	PRDX2,missense_variant,p.Leu96Phe,ENST00000301522,NM_005809.5;PRDX2,missense_variant,p.Leu96Phe,ENST00000334482,;CTD-2659N19.10,intron_variant,,ENST00000585496,;HOOK2,intron_variant,,ENST00000589765,;PRDX2,non_coding_transcript_exon_variant,,ENST00000466174,;PRDX2,non_coding_transcript_exon_variant,,ENST00000477555,;PRDX2,non_coding_transcript_exon_variant,,ENST00000478908,;PRDX2,upstream_gene_variant,,ENST00000498785,;	A	ENST00000301522	Transcript	missense_variant	417/987	288/597	96/198	L/F	ttG/ttT		1		-1	PRDX2	HGNC	HGNC:9353	protein_coding	YES	CCDS12281.1	ENSP00000301522	P32119	V9HW12	UPI0000001C80	NM_005809.5	deleterious(0.03)		4/6		PROSITE_profiles:PS51352,hmmpanther:PTHR10681:SF124,hmmpanther:PTHR10681,Gene3D:3.40.30.10,PIRSF_domain:PIRSF000239,Pfam_domain:PF00578,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	12800269	12800269	C	A	1	0	0	0	0	1	0	0	0	12597	593	21	2		2	PRDX2	19	12800269	Missense_Mutation	SNP	C	C3L-01924_TP	664490	12800269	45817347	547	8862											
CACNA1A	0	.	GRCh38	chr19	13261595	13261595	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttaagtgagttcaccaCacagtcaaacacagcctgtg	12	11	8	10	0	2	1	2	1	0	0	2	1	2	1	2	0	2	2	2	0	2	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.4105G>C	p.Val1369Leu	p.V1369L	ENST00000360228	26/47	170	143	27	203	203	0	strelka-varscan-mutect	CACNA1A,missense_variant,p.Val1370Leu,ENST00000638009,NM_001127221.1;CACNA1A,missense_variant,p.Val1370Leu,ENST00000635895,;CACNA1A,missense_variant,p.Val1370Leu,ENST00000637769,;CACNA1A,missense_variant,p.Val1369Leu,ENST00000360228,NM_001127222.1;CACNA1A,missense_variant,p.Val1373Leu,ENST00000614285,;CACNA1A,missense_variant,p.Val1323Leu,ENST00000637736,;CACNA1A,missense_variant,p.Val1370Leu,ENST00000636389,;CACNA1A,missense_variant,p.Val1373Leu,ENST00000638029,NM_023035.2;CACNA1A,missense_variant,p.Val1373Leu,ENST00000637432,NM_000068.3;CACNA1A,missense_variant,p.Val1371Leu,ENST00000573710,;CACNA1A,missense_variant,p.Val1370Leu,ENST00000635727,;CACNA1A,missense_variant,p.Val1370Leu,ENST00000636012,;CACNA1A,missense_variant,p.Val1370Leu,ENST00000637276,;CACNA1A,missense_variant,p.Val1371Leu,ENST00000637927,;CACNA1A,missense_variant,p.Val1370Leu,ENST00000636549,NM_001174080.1;CACNA1A,upstream_gene_variant,,ENST00000587525,;CACNA1A,upstream_gene_variant,,ENST00000637297,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000590205,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000637004,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000636816,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000635742,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000635917,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000637692,;CACNA1A,upstream_gene_variant,,ENST00000637168,;CACNA1A,upstream_gene_variant,,ENST00000636984,;	G	ENST00000360228	Transcript	missense_variant	4340/8627	4105/7521	1369/2506	V/L	Gtg/Ctg		1		-1	CACNA1A	HGNC	HGNC:1388	protein_coding	YES	CCDS45998.1	ENSP00000353362	O00555		UPI0000141565	NM_001127222.1	deleterious(0.02)		26/47		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	13261595	13261595	C	G	1	0	0	0	0	1	0	0	0	2226	478	17	4		4	CACNA1A	19	13261595	Missense_Mutation	SNP	C	C3L-01924_TP	461326	13261595	45356021	548	8863											
CACNA1A	0	.	GRCh38	chr19	13275908	13275908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcgagaatattccagaGgtcacggaagtaggcaccct	13	7	12	9	2	1	2	1	0	0	2	3	5	2	3	2	3	0	2	2	3	5	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.3931C>A	p.Leu1311Ile	p.L1311I	ENST00000360228	24/47	218	201	17	199	199	0	strelka-varscan-mutect	CACNA1A,missense_variant,p.Leu1312Ile,ENST00000638009,NM_001127221.1;CACNA1A,missense_variant,p.Leu1312Ile,ENST00000635895,;CACNA1A,missense_variant,p.Leu1312Ile,ENST00000637769,;CACNA1A,missense_variant,p.Leu1311Ile,ENST00000360228,NM_001127222.1;CACNA1A,missense_variant,p.Leu1315Ile,ENST00000614285,;CACNA1A,missense_variant,p.Leu1265Ile,ENST00000637736,;CACNA1A,missense_variant,p.Leu1312Ile,ENST00000636389,;CACNA1A,missense_variant,p.Leu1315Ile,ENST00000638029,NM_023035.2;CACNA1A,missense_variant,p.Leu1315Ile,ENST00000637432,NM_000068.3;CACNA1A,missense_variant,p.Leu1313Ile,ENST00000573710,;CACNA1A,missense_variant,p.Leu1312Ile,ENST00000635727,;CACNA1A,missense_variant,p.Leu1312Ile,ENST00000636012,;CACNA1A,missense_variant,p.Leu1312Ile,ENST00000637276,;CACNA1A,missense_variant,p.Leu1313Ile,ENST00000637927,;CACNA1A,missense_variant,p.Leu1312Ile,ENST00000636549,NM_001174080.1;CACNA1A,non_coding_transcript_exon_variant,,ENST00000637485,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000637774,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000635786,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000637004,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000635917,;	T	ENST00000360228	Transcript	missense_variant	4166/8627	3931/7521	1311/2506	L/I	Ctc/Atc		1		-1	CACNA1A	HGNC	HGNC:1388	protein_coding	YES	CCDS45998.1	ENSP00000353362	O00555		UPI0000141565	NM_001127222.1	deleterious(0.01)		24/47		Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	13275908	13275908	G	T	1	0	0	0	0	1	0	0	0	2226	1000	35	2		2	CACNA1A	19	13275908	Missense_Mutation	SNP	G	C3L-01924_TP	14313	13275908	45341708	549	8864											
PKN1	0	.	GRCh38	chr19	14458342	14458342	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggcatgaggtgcagctGgacatggaaccccagggctg	10	5	17	9	0	0	2	0	1	0	1	0	5	0	4	2	5	3	4	2	5	1	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1404G>T	p.=	p.L468L	ENST00000342216	9/22	141	123	18	178	178	0	strelka-varscan-mutect	PKN1,synonymous_variant,p.=,ENST00000242783,NM_002741.3;PKN1,synonymous_variant,p.=,ENST00000342216,NM_213560.1;PKN1,downstream_gene_variant,,ENST00000586557,;CTC-548K16.6,upstream_gene_variant,,ENST00000589702,;PKN1,non_coding_transcript_exon_variant,,ENST00000585839,;PKN1,downstream_gene_variant,,ENST00000588200,;	T	ENST00000342216	Transcript	synonymous_variant	1435/2960	1404/2847	468/948	L	ctG/ctT		1		1	PKN1	HGNC	HGNC:9405	protein_coding	YES	CCDS42514.1	ENSP00000343325	Q16512		UPI0000366D4D	NM_213560.1			9/22		Gene3D:2.60.40.150,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF158,Superfamily_domains:SSF49562																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	29	14458342	14458342	G	T	1	0	0	0	0	0	0	0	1	12075	1335	47	2		2	PKN1	19	14458342	Silent	SNP	G	C3L-01924_TP	1182434	14458342	44159274	550	8865											
FCHO1	0	.	GRCh38	chr19	17786581	17786581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttctctgccaggaacctgGaggagaagcggctcacttgg	8	9	13	11	1	2	1	1	0	1	1	3	4	2	3	2	5	3	1	2	5	2	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2434G>A	p.Glu812Lys	p.E812K	ENST00000594202	27/29	137	109	28	97	97	0	strelka-varscan-mutect	FCHO1,missense_variant,p.Glu812Lys,ENST00000594202,NM_001161357.1;FCHO1,missense_variant,p.Glu812Lys,ENST00000596536,NM_015122.2;FCHO1,missense_variant,p.Glu812Lys,ENST00000252771,;FCHO1,missense_variant,p.Glu812Lys,ENST00000600676,NM_001161358.1;FCHO1,missense_variant,p.Glu812Lys,ENST00000596951,;FCHO1,missense_variant,p.Glu819Lys,ENST00000597512,;FCHO1,missense_variant,p.Glu762Lys,ENST00000595033,NM_001161359.1;FCHO1,downstream_gene_variant,,ENST00000600058,;FCHO1,downstream_gene_variant,,ENST00000595594,;FCHO1,downstream_gene_variant,,ENST00000602111,;FCHO1,downstream_gene_variant,,ENST00000599766,;	A	ENST00000594202	Transcript	missense_variant	2713/3214	2434/2676	812/891	E/K	Gag/Aag		1		1	FCHO1	HGNC	HGNC:29002	protein_coding	YES	CCDS59365.1	ENSP00000473001		A0A0C3SFZ9	UPI000059D6B0	NM_001161357.1	deleterious(0.01)		27/29		Pfam_domain:PF10291,PROSITE_profiles:PS51072,hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF6																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	17786581	17786581	G	A	1	0	0	0	0	1	0	0	0	5649	1175	41	3		3	FCHO1	19	17786581	Missense_Mutation	SNP	G	C3L-01924_TP	3328239	17786581	40831035	551	8866											
ZNF738	0	.	GRCh38	chr19	21361765	21361765	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttattttctcccataGgacgacctgaggtatggagt	8	14	11	8	1	1	1	0	1	1	0	2	4	1	3	2	4	0	2	2	4	3	6	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.4-1G>C		p.X2_splice	ENST00000311015		282	240	42	326	326	0	strelka-varscan-mutect	ZNF738,splice_acceptor_variant,,ENST00000311015,;ZNF738,splice_acceptor_variant,,ENST00000380870,;ZNF738,splice_acceptor_variant,,ENST00000594245,;ZNF738,splice_acceptor_variant,,ENST00000597810,;ZNF738,splice_acceptor_variant,,ENST00000597492,;	C	ENST00000311015	Transcript	splice_acceptor_variant	-/2442	4/414	2/137				1		1	ZNF738	HGNC	HGNC:32469	protein_coding	YES		ENSP00000311957	Q8NE65		UPI000006D73F					1/4																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	29	21361765	21361765	G	C	1	0	0	0	0	0	0	1	0	18709	1014	35	4		4	ZNF738	19	21361765	Splice_Site	SNP	G	C3L-01924_TP	3575184	21361765	37255851	552	8867											
ZNF208	0	.	GRCh38	chr19	21987227	21987227	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctacctggggattctTccaccatctcatgtctcttc	6	14	5	16	0	4	0	2	0	3	0	8	1	5	1	4	2	1	0	4	2	1	4	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.215A>T	p.Glu72Val	p.E72V	ENST00000397126	3/4	118	100	18	143	143	0	strelka-varscan-mutect	ZNF208,missense_variant,p.Glu72Val,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Glu72Val,ENST00000609966,;ZNF208,missense_variant,p.Glu72Val,ENST00000601773,;ZNF208,missense_variant,p.Glu40Val,ENST00000597040,;ZNF208,missense_variant,p.Glu72Val,ENST00000599916,;ZNF208,missense_variant,p.Glu71Val,ENST00000599723,;ZNF208,downstream_gene_variant,,ENST00000601993,;	A	ENST00000397126	Transcript	missense_variant	364/3992	215/3843	72/1280	E/V	gAa/gTa		1		-1	ZNF208	HGNC	HGNC:12999	protein_coding	YES	CCDS54240.1	ENSP00000380315	O43345		UPI0001B23C28	NM_007153.3	tolerated(0.27)		3/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	29	21987227	21987227	T	A	1	0	0	0	0	1	0	0	0	18343	1783	62	4		4	ZNF208	19	21987227	Missense_Mutation	SNP	T	C3L-01924_TP	625462	21987227	36630389	553	8868											
ZNF676	0	.	GRCh38	chr19	22180583	22180583	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttatgtgtattaagggtTgagaccttactaaaggcttt	10	15	10	6	0	0	1	0	1	0	1	0	2	0	1	2	2	1	3	2	2	6	7	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1134A>T	p.=	p.S378S	ENST00000397121	3/3	309	280	29	381	381	0	varscan-mutect	ZNF676,synonymous_variant,p.=,ENST00000397121,NM_001001411.2;	A	ENST00000397121	Transcript	synonymous_variant	1452/2944	1134/1767	378/588	S	tcA/tcT		1		-1	ZNF676	HGNC	HGNC:20429	protein_coding	YES	CCDS42539.1	ENSP00000380310	Q8N7Q3		UPI00002376EC	NM_001001411.2			3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	29	22180583	22180583	T	A	1	0	0	0	0	0	0	0	1	18656	1799	63	4		4	ZNF676	19	22180583	Silent	SNP	T	C3L-01924_TP	193356	22180583	36437033	554	8869											
ZNF729	0	.	GRCh38	chr19	22316016	22316016	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttagccaatcctcatccCttagaaaacatgagataatt	14	13	4	10	0	1	2	1	1	0	2	3	3	3	2	3	0	2	0	3	0	6	5	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2599C>G	p.Leu867Val	p.L867V	ENST00000601693	4/4	320	254	66	430	430	0	strelka-varscan-mutect	ZNF729,missense_variant,p.Leu867Val,ENST00000601693,NM_001242680.1;	G	ENST00000601693	Transcript	missense_variant	2717/3877	2599/3759	867/1252	L/V	Ctt/Gtt		1		1	ZNF729	HGNC	HGNC:32464	protein_coding	YES	CCDS59368.1	ENSP00000469582	A6NN14		UPI000042600C	NM_001242680.1	deleterious(0.02)		4/4		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	29	22316016	22316016	C	G	1	0	0	0	0	1	0	0	0	18703	681	24	4		4	ZNF729	19	22316016	Missense_Mutation	SNP	C	C3L-01924_TP	135433	22316016	36301600	555	8870											
ZNF492	0	.	GRCh38	chr19	22664666	22664666	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacataagagaattcattctGgagagaaaccctacaagtgt	16	9	8	8	0	2	2	1	0	1	2	2	5	2	3	1	1	2	0	1	1	5	4	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.997G>C	p.Gly333Arg	p.G333R	ENST00000456783	4/4	189	171	18	225	225	0	varscan-mutect	ZNF492,missense_variant,p.Gly333Arg,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	C	ENST00000456783	Transcript	missense_variant	1241/4245	997/1596	333/531	G/R	Gga/Cga		1		1	ZNF492	HGNC	HGNC:23707	protein_coding	YES	CCDS46032.1	ENSP00000413660	Q9P255		UPI00001C200B	NM_020855.2	deleterious(0.04)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	22664666	22664666	G	C	1	0	0	0	0	1	0	0	0	18516	1349	47	4		4	ZNF492	19	22664666	Missense_Mutation	SNP	G	C3L-01924_TP	348650	22664666	35952950	556	8871											
UQCRFS1	0	.	GRCh38	chr19	29207766	29207766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaggtttctttactcgatCtagatcatgctgtgggtccc	6	16	9	10	1	4	1	2	0	2	1	6	2	5	1	1	2	2	2	1	2	2	5	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.607G>C	p.Asp203His	p.D203H	ENST00000304863	2/2	251	201	50	296	296	0	strelka-varscan-mutect	UQCRFS1,missense_variant,p.Asp203His,ENST00000304863,NM_006003.2;	G	ENST00000304863	Transcript	missense_variant	1030/3475	607/825	203/274	D/H	Gat/Cat		1		-1	UQCRFS1	HGNC	HGNC:12587	protein_coding	YES	CCDS12415.1	ENSP00000306397	P47985		UPI000013E9D6	NM_006003.2	deleterious(0)		2/2		PROSITE_profiles:PS51296,hmmpanther:PTHR10134,hmmpanther:PTHR10134:SF9,TIGRFAM_domain:TIGR01416,Gene3D:2.102.10.10,Pfam_domain:PF00355,Superfamily_domains:SSF50022																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	29207766	29207766	C	G	1	0	0	0	0	1	0	0	0	17549	913	32	4		4	UQCRFS1	19	29207766	Missense_Mutation	SNP	C	C3L-01924_TP	6543100	29207766	29409850	557	8872											
URI1	0	.	GRCh38	chr19	30012516	30012516	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaagaaacttttgcccttAtcagtaacacctgaggtgtg	13	11	8	9	0	1	2	1	1	0	1	1	2	1	2	2	1	3	1	2	1	5	4			C3L-01924_TP	C3L-01924_NB	A	A																c.1410A>G	p.=	p.L470L	ENST00000392271	10/11	123	109	14	192	192	0	strelka-varscan-mutect	URI1,synonymous_variant,p.=,ENST00000392271,NM_003796.3;URI1,synonymous_variant,p.=,ENST00000360605,NM_001252641.1;URI1,synonymous_variant,p.=,ENST00000575242,;URI1,synonymous_variant,p.=,ENST00000573052,;URI1,downstream_gene_variant,,ENST00000576442,;URI1,downstream_gene_variant,,ENST00000574176,;URI1,downstream_gene_variant,,ENST00000570704,;URI1,3_prime_UTR_variant,,ENST00000574110,;	G	ENST00000392271	Transcript	synonymous_variant	1707/3444	1410/1608	470/535	L	ttA/ttG	COSM4999332	1		1	URI1	HGNC	HGNC:13236	protein_coding	YES	CCDS12420.1	ENSP00000376097	O94763		UPI00001604C8	NM_003796.3			10/11		hmmpanther:PTHR15111,hmmpanther:PTHR15111:SF0											1						LOW	1	SNV	1		1	1										PASS		.	.												G	2	3	29	30012516	30012516	A	G	1	0	0	0	0	0	0	0	1	17558	446	16	5		5	URI1	19	30012516	Silent	SNP	A	C3L-01924_TP	804750	30012516	28605100	558	8873											
RGS9BP	0	.	GRCh38	chr19	32676795	32676795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctggaccgtgcaagccCggcaggcggcgggcgccgag	5	2	18	16	7	0	0	0	0	0	0	0	2	0	1	4	5	2	3	4	5	1	0	rs749442416		C3L-01924_TP	C3L-01924_NB	C	C																c.532C>T	p.Arg178Trp	p.R178W	ENST00000334176	1/1	263	211	52	303	303	0	strelka-varscan-mutect	RGS9BP,missense_variant,p.Arg178Trp,ENST00000334176,NM_207391.2;ANKRD27,upstream_gene_variant,,ENST00000306065,NM_032139.2;ANKRD27,upstream_gene_variant,,ENST00000587352,;ANKRD27,upstream_gene_variant,,ENST00000590519,;ANKRD27,upstream_gene_variant,,ENST00000586463,;ANKRD27,upstream_gene_variant,,ENST00000586693,;CTC-379B2.4,downstream_gene_variant,,ENST00000589127,;ANKRD27,upstream_gene_variant,,ENST00000588700,;	T	ENST00000334176	Transcript	missense_variant	1389/2894	532/708	178/235	R/W	Cgg/Tgg	rs749442416,COSM5564771	1		1	RGS9BP	HGNC	HGNC:30304	protein_coding	YES	CCDS12424.1	ENSP00000334134	Q6ZS82		UPI0000198BA8	NM_207391.2	deleterious(0)		1/1		hmmpanther:PTHR21029,hmmpanther:PTHR21029:SF1											0,1						MODERATE		SNV			0,1	1										PASS		rs749442416	.												T	3	4	29	32676795	32676795	C	T	1	0	0	0	0	1	0	0	0	13485	643	23	1		1	RGS9BP	19	32676795	Missense_Mutation	SNP	C	C3L-01924_TP	2664279	32676795	25940821	559	8874											
CHST8	0	.	GRCh38	chr19	33772485	33772485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtccactatggcagcgctCtcaagcgcctggacaccttc	7	8	9	17	3	1	0	1	0	1	0	4	1	2	1	4	2	2	2	4	2	2	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.697C>T	p.Leu233Phe	p.L233F	ENST00000262622	4/4	188	174	14	147	147	0	strelka-varscan-mutect	CHST8,missense_variant,p.Leu233Phe,ENST00000262622,NM_022467.3;CHST8,missense_variant,p.Leu233Phe,ENST00000434302,NM_001127895.1;CHST8,missense_variant,p.Leu233Phe,ENST00000438847,NM_001127896.1;CHST8,downstream_gene_variant,,ENST00000591231,;	T	ENST00000262622	Transcript	missense_variant	1455/2479	697/1275	233/424	L/F	Ctc/Ttc		1		1	CHST8	HGNC	HGNC:15993	protein_coding	YES	CCDS12433.1	ENSP00000262622	Q9H2A9		UPI000006F966	NM_022467.3	deleterious(0)		4/4		Pfam_domain:PF03567,hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	33772485	33772485	C	T	1	0	0	0	0	1	0	0	0	3170	913	32	3		3	CHST8	19	33772485	Missense_Mutation	SNP	C	C3L-01924_TP	1095690	33772485	24845131	560	8875											
ZNF599	0	.	GRCh38	chr19	34760377	34760377	+	Frame_Shift_Del	DEL	G	G	-																															ctcagggcatatctctttgtGggggtttgttcctggcctca																								rs375923674		C3L-01924_TP	C3L-01924_NB	G	G																c.424delC	p.His142ThrfsTer9	p.H142Tfs*9	ENST00000329285	4/4	221	177	44	312	312	0	sindel-varindel-pindel	ZNF599,frameshift_variant,p.His142ThrfsTer9,ENST00000329285,NM_001007248.2;ZNF599,downstream_gene_variant,,ENST00000587354,;	-	ENST00000329285	Transcript	frameshift_variant	798/3099	424/1767	142/588	H/X	Cac/ac	rs375923674	1		-1	ZNF599	HGNC	HGNC:26408	protein_coding	YES	CCDS32991.1	ENSP00000333802	Q96NL3		UPI0000071186	NM_001007248.2			4/4		hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF20																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	29	34760377	34760377	G	-	1	0	1	0	1	0	0	0	0	18604	1348	47	0		0	ZNF599	19	34760377	Frame_Shift_Del	DEL	G	C3L-01924_TP	987892	34760377	23857239	561	8876											
KMT2B	0	.	GRCh38	chr19	35730748	35730748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagtggatgctcggaggcGctgctggtatcggtgccgaa	7	8	16	10	4	0	0	0	0	0	0	2	3	0	2	1	5	3	4	1	5	2	1	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.5318G>A	p.Arg1773His	p.R1773H	ENST00000420124	26/37	198	185	13	211	209	2	strelka-varscan-mutect	KMT2B,missense_variant,p.Arg1773His,ENST00000420124,NM_014727.2;KMT2B,upstream_gene_variant,,ENST00000585476,;KMT2B,upstream_gene_variant,,ENST00000592092,;	A	ENST00000420124	Transcript	missense_variant	5318/8469	5318/8148	1773/2715	R/H	cGc/cAc		1		1	KMT2B	HGNC	HGNC:15840	protein_coding	YES	CCDS46055.1	ENSP00000398837	Q9UMN6		UPI00001376B5	NM_014727.2	deleterious(0)		26/37		Pfam_domain:PF05964,PROSITE_profiles:PS51542,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF341,SMART_domains:SM00541																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	35730748	35730748	G	A	1	0	0	0	0	1	0	0	0	8296	1087	38	1		1	KMT2B	19	35730748	Missense_Mutation	SNP	G	C3L-01924_TP	970371	35730748	22886868	562	8877											
U2AF1L4	0	.	GRCh38	chr19	35744534	35744534	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacctccacgtcactcAcatgacctggggtgggggcg	6	7	13	15	2	2	1	2	1	0	0	3	1	3	1	4	4	1	1	4	4	0	0	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.206T>G	p.Val69Gly	p.V69G	ENST00000412391	4/8	143	110	33	218	216	2	strelka-varscan-mutect	U2AF1L4,missense_variant,p.Val69Gly,ENST00000412391,;U2AF1L4,intron_variant,,ENST00000378975,NM_001040425.2;U2AF1L4,intron_variant,,ENST00000292879,NM_144987.3;U2AF1L4,intron_variant,,ENST00000587886,;PSENEN,upstream_gene_variant,,ENST00000587708,;IGFLR1,upstream_gene_variant,,ENST00000246532,;IGFLR1,upstream_gene_variant,,ENST00000592537,NM_024660.2;LIN37,upstream_gene_variant,,ENST00000301159,NM_019104.2;PSENEN,upstream_gene_variant,,ENST00000591949,;IGFLR1,upstream_gene_variant,,ENST00000592889,;IGFLR1,upstream_gene_variant,,ENST00000588992,;PSENEN,upstream_gene_variant,,ENST00000222266,NM_001281532.1,NM_172341.2;IGFLR1,upstream_gene_variant,,ENST00000591277,;IGFLR1,upstream_gene_variant,,ENST00000591748,;LIN37,upstream_gene_variant,,ENST00000587751,;IGFLR1,upstream_gene_variant,,ENST00000586140,;AC002398.11,downstream_gene_variant,,ENST00000591091,;AC002398.11,downstream_gene_variant,,ENST00000585365,;IGFLR1,upstream_gene_variant,,ENST00000587101,;U2AF1L4,downstream_gene_variant,,ENST00000588100,;LIN37,upstream_gene_variant,,ENST00000591076,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000588892,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000588980,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000586476,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000585554,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000591855,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000585771,;AD000671.6,intron_variant,,ENST00000589807,;U2AF1L4,intron_variant,,ENST00000590135,;U2AF1L4,intron_variant,,ENST00000587987,;U2AF1L4,intron_variant,,ENST00000592913,;U2AF1L4,intron_variant,,ENST00000591084,;U2AF1L4,intron_variant,,ENST00000594792,;U2AF1L4,intron_variant,,ENST00000591057,;U2AF1L4,intron_variant,,ENST00000589429,;U2AF1L4,intron_variant,,ENST00000600296,;U2AF1L4,intron_variant,,ENST00000601236,;LIN37,upstream_gene_variant,,ENST00000595455,;LIN37,upstream_gene_variant,,ENST00000587108,;LIN37,upstream_gene_variant,,ENST00000590706,;IGFLR1,upstream_gene_variant,,ENST00000588018,;AC002398.9,upstream_gene_variant,,ENST00000591613,;IGFLR1,upstream_gene_variant,,ENST00000592693,;LIN37,upstream_gene_variant,,ENST00000592871,;IGFLR1,upstream_gene_variant,,ENST00000589175,;U2AF1L4,downstream_gene_variant,,ENST00000590650,;	C	ENST00000412391	Transcript	missense_variant	257/904	206/663	69/220	V/G	gTg/gGg		1		-1	U2AF1L4	HGNC	HGNC:23020	protein_coding			ENSP00000397645	Q8WU68		UPI00015E0FE8		deleterious(0.04)		4/8		PROSITE_profiles:PS50102,hmmpanther:PTHR12620:SF3,hmmpanther:PTHR12620,Gene3D:3.30.70.330,SMART_domains:SM00361,Superfamily_domains:SSF54928																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	29	35744534	35744534	A	C	1	0	0	0	0	1	0	0	0	17338	159	6	5		5	U2AF1L4	19	35744534	Missense_Mutation	SNP	A	C3L-01924_TP	13786	35744534	22873082	563	8878											
ZNF382	0	.	GRCh38	chr19	36627237	36627237	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggaagtccttctgccAaaagacaaccctcactctcc	11	9	7	14	0	3	1	1	0	2	1	5	2	4	2	4	1	2	0	4	1	4	1	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.1340A>G	p.Gln447Arg	p.Q447R	ENST00000292928	5/5	187	166	21	214	214	0	strelka-varscan-mutect	ZNF382,missense_variant,p.Gln447Arg,ENST00000292928,NM_032825.4;ZNF382,missense_variant,p.Gln446Arg,ENST00000435416,;ZNF382,missense_variant,p.Gln446Arg,ENST00000439428,NM_001256838.1;ZNF382,missense_variant,p.Gln398Arg,ENST00000423582,;ZNF382,downstream_gene_variant,,ENST00000590785,;ZNF382,upstream_gene_variant,,ENST00000585467,;	G	ENST00000292928	Transcript	missense_variant	1453/8329	1340/1653	447/550	Q/R	cAa/cGa		1		1	ZNF382	HGNC	HGNC:17409	protein_coding	YES	CCDS33004.1	ENSP00000292928	Q96SR6		UPI000013E0E2	NM_032825.4	tolerated(0.44)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF22,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	36627237	36627237	A	G	1	0	0	0	0	1	0	0	0	18445	130	5	5		5	ZNF382	19	36627237	Missense_Mutation	SNP	A	C3L-01924_TP	882703	36627237	21990379	564	8879											
ZNF527	0	.	GRCh38	chr19	37389811	37389811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttataaatgtaacgaatgtGggaataattttagctgtgtc	13	15	9	4	1	0	0	0	0	0	0	1	2	0	1	0	1	2	2	0	1	8	6	rs552214606		C3L-01924_TP	C3L-01924_NB	G	G																c.1762G>T	p.Gly588Trp	p.G588W	ENST00000436120	5/5	126	111	15	122	122	0	strelka-varscan-mutect	ZNF527,missense_variant,p.Gly588Trp,ENST00000436120,NM_032453.1;ZNF527,intron_variant,,ENST00000587349,;ZNF527,downstream_gene_variant,,ENST00000483919,;ZNF527,downstream_gene_variant,,ENST00000588911,;ZNF527,3_prime_UTR_variant,,ENST00000356178,;ZNF527,downstream_gene_variant,,ENST00000588512,;	T	ENST00000436120	Transcript	missense_variant	1869/2828	1762/1830	588/609	G/W	Ggg/Tgg	rs552214606	1		1	ZNF527	HGNC	HGNC:29385	protein_coding	YES	CCDS42559.1	ENSP00000390179	Q8NB42		UPI00002021F5	NM_032453.1	deleterious(0)		5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF71,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	4			1										PASS		rs552214606	.												T	3	4	29	37389811	37389811	G	T	1	0	0	0	0	1	0	0	0	18541	1348	47	2		2	ZNF527	19	37389811	Missense_Mutation	SNP	G	C3L-01924_TP	762574	37389811	21227805	565	8880											
WDR87	0	.	GRCh38	chr19	37887395	37887395	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaacttccttgaagccttGgctaactttctttgcccctg	7	15	6	13	0	2	1	1	1	1	0	3	1	3	1	4	1	4	1	4	1	3	6	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.6276C>A	p.=	p.A2092A	ENST00000447313	6/6	274	247	27	316	316	0	strelka-varscan-mutect	WDR87,synonymous_variant,p.=,ENST00000447313,NM_001291088.1;WDR87,synonymous_variant,p.=,ENST00000303868,NM_031951.4;	T	ENST00000447313	Transcript	synonymous_variant	6437/9009	6276/8739	2092/2912	A	gcC/gcA		1		-1	WDR87	HGNC	HGNC:29934	protein_coding	YES	CCDS74356.1	ENSP00000405012		E7ESW6	UPI0003EAEFEF	NM_001291088.1			6/6		PD936484																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	29	37887395	37887395	G	T	1	0	0	0	0	0	0	0	1	17890	1335	47	2		2	WDR87	19	37887395	Silent	SNP	G	C3L-01924_TP	497584	37887395	20730221	566	8881											
SIPA1L3	0	.	GRCh38	chr19	38082453	38082453	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcggcggcggggacacGgtggactcgtccatctttcg	4	8	16	13	6	1	0	0	0	1	0	5	2	2	2	2	7	0	0	2	7	0	1	rs768508924		C3L-01924_TP	C3L-01924_NB	G	G																c.888G>T	p.=	p.T296T	ENST00000222345	3/22	74	55	19	63	63	0	strelka-varscan-mutect	SIPA1L3,synonymous_variant,p.=,ENST00000222345,NM_015073.2;SIPA1L3,downstream_gene_variant,,ENST00000476317,;	T	ENST00000222345	Transcript	synonymous_variant	1397/7987	888/5346	296/1781	T	acG/acT	rs768508924	1		1	SIPA1L3	HGNC	HGNC:23801	protein_coding	YES	CCDS33007.1	ENSP00000222345	O60292		UPI00001D8160	NM_015073.2			3/22		hmmpanther:PTHR15711:SF15,hmmpanther:PTHR15711																	LOW	1	SNV	1			1										PASS		rs768508924	.												T	2	4	29	38082453	38082453	G	T	1	0	0	0	0	0	0	0	1	14594	1103	39	1		1	SIPA1L3	19	38082453	Silent	SNP	G	C3L-01924_TP	195058	38082453	20535163	567	8882											
LGALS16	0	.	GRCh38	chr19	39658524	39658524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactcagaaattgccttcCatttgcgagtgcacttaggc	10	11	10	10	1	1	1	1	0	0	1	2	3	2	2	2	2	3	1	2	2	2	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.157C>A	p.His53Asn	p.H53N	ENST00000392051	3/4	298	231	67	325	324	1	strelka-varscan-mutect	LGALS16,missense_variant,p.His53Asn,ENST00000392051,NM_001190441.2;LGALS16,3_prime_UTR_variant,,ENST00000594480,;	A	ENST00000392051	Transcript	missense_variant	225/624	157/429	53/142	H/N	Cat/Aat		1		1	LGALS16	HGNC	HGNC:40039	protein_coding	YES	CCDS54267.1	ENSP00000375904	A8MUM7		UPI00006C1A40	NM_001190441.2	deleterious(0.01)		3/4		PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF77,Pfam_domain:PF00337,Gene3D:2.60.120.200,SMART_domains:SM00276,SMART_domains:SM00908,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs1478129963	.												A	3	1	29	39658524	39658524	C	A	1	0	0	0	0	1	0	0	0	8649	594	21	2		2	LGALS16	19	39658524	Missense_Mutation	SNP	C	C3L-01924_TP	1576071	39658524	18959092	568	8883											
AKT2	0	.	GRCh38	chr19	40234895	40234895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtccaaagaggaccaaCagcaaaagggcctgagagca	16	2	12	11	0	0	2	0	1	0	2	1	4	1	3	4	3	3	2	4	3	4	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1330G>T	p.Val444Phe	p.V444F	ENST00000579047	12/12	55	39	16	94	94	0	strelka-varscan-mutect	AKT2,missense_variant,p.Val444Phe,ENST00000579047,NM_001243027.2,NM_001243028.2;AKT2,intron_variant,,ENST00000392038,NM_001626.5;AKT2,intron_variant,,ENST00000424901,;AKT2,intron_variant,,ENST00000311278,;AKT2,intron_variant,,ENST00000476247,;AKT2,intron_variant,,ENST00000497948,;AKT2,downstream_gene_variant,,ENST00000578615,;AKT2,downstream_gene_variant,,ENST00000578310,;AKT2,downstream_gene_variant,,ENST00000391845,;AKT2,downstream_gene_variant,,ENST00000480878,;AKT2,downstream_gene_variant,,ENST00000486647,;AKT2,intron_variant,,ENST00000483166,;AKT2,intron_variant,,ENST00000476266,;AKT2,intron_variant,,ENST00000391844,;AKT2,intron_variant,,ENST00000584288,;AKT2,intron_variant,,ENST00000496089,;AKT2,intron_variant,,ENST00000489375,;AKT2,downstream_gene_variant,,ENST00000537834,;AKT2,downstream_gene_variant,,ENST00000492463,;AKT2,downstream_gene_variant,,ENST00000580878,;AKT2,downstream_gene_variant,,ENST00000579345,;AKT2,downstream_gene_variant,,ENST00000601166,;AKT2,downstream_gene_variant,,ENST00000578282,;	A	ENST00000579047	Transcript	missense_variant	1632/2029	1330/1353	444/450	V/F	Gtt/Ttt		1		-1	AKT2	HGNC	HGNC:392	protein_coding			ENSP00000471369		M0R0P9	UPI00024D0DDF	NM_001243027.2,NM_001243028.2	deleterious_low_confidence(0.01)		12/12		PROSITE_profiles:PS51285																	MODERATE		SNV	1			1										PASS		.	.												A	3	1	29	40234895	40234895	C	A	1	0	0	0	0	1	0	0	0	563	478	17	2		2	AKT2	19	40234895	Missense_Mutation	SNP	C	C3L-01924_TP	576371	40234895	18382721	569	8884											
DMRTC2	0	.	GRCh38	chr19	41850527	41850527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctccctttcccttgcaggCctctggagcctcgtgcctgg	2	12	11	16	1	2	0	0	0	2	0	5	1	3	1	5	3	3	1	5	3	0	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.818C>A	p.Ala273Asp	p.A273D	ENST00000269945	8/9	69	62	7	77	77	0	strelka-varscan-mutect	DMRTC2,missense_variant,p.Ala273Asp,ENST00000269945,NM_001040283.2;DMRTC2,missense_variant,p.Ala324Asp,ENST00000596827,;DMRTC2,downstream_gene_variant,,ENST00000596660,;DMRTC2,downstream_gene_variant,,ENST00000600017,;DMRTC2,downstream_gene_variant,,ENST00000596258,;DMRTC2,downstream_gene_variant,,ENST00000602098,;DMRTC2,3_prime_UTR_variant,,ENST00000601660,;DMRTC2,non_coding_transcript_exon_variant,,ENST00000599022,;	A	ENST00000269945	Transcript	missense_variant,splice_region_variant	869/1792	818/1104	273/367	A/D	gCc/gAc		1		1	DMRTC2	HGNC	HGNC:13911	protein_coding	YES	CCDS33034.1	ENSP00000269945	Q8IXT2		UPI0000071B2A	NM_001040283.2	deleterious(0.02)		8/9		hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF15,Pfam_domain:PF15791																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	41850527	41850527	C	A	1	0	0	0	0	1	0	0	0	4399	753	26	2		2	DMRTC2	19	41850527	Missense_Mutation	SNP	C	C3L-01924_TP	1615632	41850527	16767089	570	8885											
PSG11	0	.	GRCh38	chr19	43010038	43010038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaagttcctaatcctggaGgagctgtcatggaaagaaaa	16	8	10	7	0	1	1	1	0	0	1	3	4	3	4	2	3	1	2	2	3	6	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.968C>T	p.Pro323Leu	p.P323L	ENST00000320078	5/6	179	153	26	164	164	0	strelka-varscan-mutect	PSG11,missense_variant,p.Pro323Leu,ENST00000320078,NM_002785.2;PSG11,missense_variant,p.Pro201Leu,ENST00000403486,NM_203287.1,NM_001113410.1;PSG11,missense_variant,p.Pro201Leu,ENST00000306322,;CTC-490G23.6,intron_variant,,ENST00000635495,;PSG11,downstream_gene_variant,,ENST00000599976,;PSG11,3_prime_UTR_variant,,ENST00000593983,;PSG11,non_coding_transcript_exon_variant,,ENST00000593994,;PSG11,downstream_gene_variant,,ENST00000595138,;PSG11,downstream_gene_variant,,ENST00000594655,;	A	ENST00000320078	Transcript	missense_variant	1108/1575	968/1008	323/335	P/L	cCt/cTt		1		-1	PSG11	HGNC	HGNC:9516	protein_coding	YES	CCDS12614.2	ENSP00000319140	Q9UQ72		UPI000004EE8C	NM_002785.2	deleterious(0.05)		5/6		Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	MODERATE	1	SNV	2			1										PASS		rs1481421509	.												A	3	1	29	43010038	43010038	G	A	1	0	0	0	0	1	0	0	0	12805	1014	35	3		3	PSG11	19	43010038	Missense_Mutation	SNP	G	C3L-01924_TP	1159511	43010038	15607578	571	8886											
RSPH6A	0	.	GRCh38	chr19	45804670	45804670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctcctccttggggatcacgGgcggcggcttccatacggac	5	9	13	14	4	2	0	1	0	1	0	5	2	4	2	3	6	1	1	3	6	1	3	rs200271765		C3L-01924_TP	C3L-01924_NB	G	G																c.1235C>A	p.Pro412His	p.P412H	ENST00000221538	3/6	269	219	50	289	289	0	strelka-varscan-mutect	RSPH6A,missense_variant,p.Pro412His,ENST00000221538,NM_030785.3;RSPH6A,missense_variant,p.Pro412His,ENST00000597055,;RSPH6A,missense_variant,p.Pro148His,ENST00000600188,;	T	ENST00000221538	Transcript	missense_variant	1378/2456	1235/2154	412/717	P/H	cCc/cAc	rs200271765	1		-1	RSPH6A	HGNC	HGNC:14241	protein_coding	YES	CCDS12675.1	ENSP00000221538	Q9H0K4		UPI0000037C58	NM_030785.3	deleterious(0)		3/6		Pfam_domain:PF04712,hmmpanther:PTHR13159,hmmpanther:PTHR13159:SF1																	MODERATE	1	SNV	1			1										PASS		rs200271765	.												T	3	4	29	45804670	45804670	G	T	1	0	0	0	0	1	0	0	0	13965	1232	43	2		2	RSPH6A	19	45804670	Missense_Mutation	SNP	G	C3L-01924_TP	2794632	45804670	12812946	572	8887											
PPFIA3	0	.	GRCh38	chr19	49139694	49139694	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctaaggaggaagctggAgctccacgaggggaggggcc	9	4	18	10	1	0	0	0	0	0	0	2	5	2	4	3	7	2	2	3	7	2	1	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.2103A>T	p.=	p.G701G	ENST00000334186	17/30	49	39	10	56	55	1	strelka-varscan-mutect	PPFIA3,synonymous_variant,p.=,ENST00000334186,NM_003660.3;PPFIA3,synonymous_variant,p.=,ENST00000602351,;PPFIA3,upstream_gene_variant,,ENST00000602848,;PPFIA3,missense_variant,p.Glu627Val,ENST00000602655,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000421230,;PPFIA3,downstream_gene_variant,,ENST00000602716,;	T	ENST00000334186	Transcript	synonymous_variant	2452/4733	2103/3585	701/1194	G	ggA/ggT		1		1	PPFIA3	HGNC	HGNC:9247	protein_coding	YES	CCDS12758.1	ENSP00000335614	O75145		UPI00001AE464	NM_003660.3			17/30		hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF4																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	49139694	49139694	A	T	1	0	0	0	0	0	0	0	1	12420	291	11	4		4	PPFIA3	19	49139694	Silent	SNP	A	C3L-01924_TP	3335024	49139694	9477922	573	8888											
PRR12	0	.	GRCh38	chr19	49595722	49595722	+	Frame_Shift_Del	DEL	G	G	-																															cctacgggcaagggtttggaGgggggcaggcacaggacttg																								rs770385100		C3L-01924_TP	C3L-01924_NB	G	G																c.1392delG	p.Gln465ArgfsTer5	p.Q465Rfs*5	ENST00000418929	4/14	50	40	10	98	98	0	sindel-varindel-pindel	PRR12,frameshift_variant,p.Gln465ArgfsTer5,ENST00000418929,NM_020719.1;PRR12,intron_variant,,ENST00000615927,;PRRG2,downstream_gene_variant,,ENST00000246794,NM_000951.2;PRRG2,downstream_gene_variant,,ENST00000543867,;PRRG2,downstream_gene_variant,,ENST00000597121,NM_001316335.1;	-	ENST00000418929	Transcript	frameshift_variant	1399/6955	1387/6111	463/2036	G/X	Ggg/gg	rs770385100,COSM1395271	1		1	PRR12	HGNC	HGNC:29217	protein_coding	YES	CCDS46143.1	ENSP00000394510	Q9ULL5		UPI0001596889	NM_020719.1			4/14		hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF1,Low_complexity_(Seg):seg											0,1						HIGH		deletion	5	5	0,1	1										PASS		.	.												-	7	5	29	49595722	49595722	G	-	1	0	1	0	1	0	0	0	0	12719	1000	35	0		0	PRR12	19	49595722	Frame_Shift_Del	DEL	G	C3L-01924_TP	456028	49595722	9021894	574	8889											
BCL2L12	0	.	GRCh38	chr19	49666733	49666733	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctccgggaagacacgcTgagggtcctagctgccttcc	6	7	15	13	2	0	2	0	1	0	1	3	3	3	3	4	4	2	3	4	4	2	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.293T>C	p.Leu98Pro	p.L98P	ENST00000616144	2/7	93	86	7	116	116	0	varscan-mutect	BCL2L12,missense_variant,p.Leu98Pro,ENST00000616144,NM_138639.1;BCL2L12,missense_variant,p.Leu98Pro,ENST00000619007,NM_001282520.1,NM_001282516.1,NM_001282519.1;BCL2L12,missense_variant,p.Leu98Pro,ENST00000246785,;BCL2L12,missense_variant,p.Leu98Pro,ENST00000614495,NM_001282521.1;BCL2L12,missense_variant,p.Leu98Pro,ENST00000441864,NM_001040668.1;BCL2L12,missense_variant,p.Leu98Pro,ENST00000611631,;BCL2L12,missense_variant,p.Leu14Pro,ENST00000246784,;BCL2L12,missense_variant,p.Leu14Pro,ENST00000600947,;BCL2L12,missense_variant,p.Leu14Pro,ENST00000594157,NM_001282517.1;BCL2L12,missense_variant,p.Leu14Pro,ENST00000598306,;IRF3,upstream_gene_variant,,ENST00000597198,;IRF3,upstream_gene_variant,,ENST00000309877,;IRF3,upstream_gene_variant,,ENST00000600911,;IRF3,upstream_gene_variant,,ENST00000377139,NM_001571.5;IRF3,upstream_gene_variant,,ENST00000601291,NM_001197122.1;IRF3,upstream_gene_variant,,ENST00000593922,NM_001197123.1;IRF3,upstream_gene_variant,,ENST00000598808,;IRF3,upstream_gene_variant,,ENST00000377135,NM_001197125.1;IRF3,upstream_gene_variant,,ENST00000598108,;IRF3,upstream_gene_variant,,ENST00000599144,NM_001197126.1;IRF3,upstream_gene_variant,,ENST00000599223,NM_001197124.1;IRF3,upstream_gene_variant,,ENST00000596756,;IRF3,upstream_gene_variant,,ENST00000593818,;IRF3,upstream_gene_variant,,ENST00000600022,NM_001197127.1;IRF3,upstream_gene_variant,,ENST00000596822,;IRF3,upstream_gene_variant,,ENST00000601809,;IRF3,upstream_gene_variant,,ENST00000595034,;IRF3,upstream_gene_variant,,ENST00000596765,NM_001197128.1;IRF3,upstream_gene_variant,,ENST00000600453,;IRF3,upstream_gene_variant,,ENST00000601373,;IRF3,upstream_gene_variant,,ENST00000593337,;IRF3,upstream_gene_variant,,ENST00000442265,;IRF3,upstream_gene_variant,,ENST00000602190,;IRF3,upstream_gene_variant,,ENST00000597180,;BCL2L12,missense_variant,p.Leu14Pro,ENST00000598979,;BCL2L12,non_coding_transcript_exon_variant,,ENST00000601168,;IRF3,upstream_gene_variant,,ENST00000597636,;IRF3,upstream_gene_variant,,ENST00000594387,;IRF3,upstream_gene_variant,,ENST00000595240,;IRF3,upstream_gene_variant,,ENST00000597369,;IRF3,upstream_gene_variant,,ENST00000596788,;	C	ENST00000616144	Transcript	missense_variant	975/1854	293/1005	98/334	L/P	cTg/cCg		1		1	BCL2L12	HGNC	HGNC:13787	protein_coding	YES	CCDS12776.1	ENSP00000482218	Q9HB09		UPI00001267BC	NM_138639.1	deleterious_low_confidence(0)		2/7		hmmpanther:PTHR14965																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	49666733	49666733	T	C	1	0	0	0	0	1	0	0	0	1517	1580	55	5		5	BCL2L12	19	49666733	Missense_Mutation	SNP	T	C3L-01924_TP	71011	49666733	8950883	575	8890											
KLK4	0	.	GRCh38	chr19	50908691	50908691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggacacggattcgtccaaCttgatgagcatgaggtcgtt	9	11	12	9	4	0	3	0	3	0	0	4	5	1	5	1	3	2	2	1	3	1	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.363G>T	p.Lys121Asn	p.K121N	ENST00000324041	3/5	434	325	109	511	509	2	strelka-varscan-mutect	KLK4,missense_variant,p.Lys121Asn,ENST00000324041,NM_004917.4,NM_001302961.1;KLK4,missense_variant,p.Lys72Asn,ENST00000431178,;KLK4,upstream_gene_variant,,ENST00000597441,;KLK4,missense_variant,p.Lys26Asn,ENST00000598305,;KLK4,missense_variant,p.Lys26Asn,ENST00000593885,;KLK4,3_prime_UTR_variant,,ENST00000602148,;KLK4,non_coding_transcript_exon_variant,,ENST00000596876,;KLK4,non_coding_transcript_exon_variant,,ENST00000599865,;	A	ENST00000324041	Transcript	missense_variant	363/1347	363/765	121/254	K/N	aaG/aaT		1		-1	KLK4	HGNC	HGNC:6365	protein_coding	YES	CCDS12809.1	ENSP00000326159		A0A0C4DFQ5	UPI0000000896	NM_004917.4,NM_001302961.1	deleterious(0)		3/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF164,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	50908691	50908691	C	A	1	0	0	0	0	1	0	0	0	8275	564	20	2		2	KLK4	19	50908691	Missense_Mutation	SNP	C	C3L-01924_TP	1241958	50908691	7708925	576	8891											
TARM1	0	.	GRCh38	chr19	54075043	54075043	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggcaggagtccaacatcGcagcgtcacattgctgttgg	8	10	12	11	2	2	0	1	0	1	0	4	1	3	1	1	3	3	4	1	3	1	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.142C>T	p.Arg48Ter	p.R48*	ENST00000432826	3/5	223	196	27	244	244	0	strelka-varscan-mutect	TARM1,stop_gained,p.Arg56Ter,ENST00000616041,;TARM1,stop_gained,p.Arg48Ter,ENST00000432826,NM_001135686.2;	A	ENST00000432826	Transcript	stop_gained	167/897	142/816	48/271	R/*	Cga/Tga		1		-1	TARM1	HGNC	HGNC:37250	protein_coding	YES	CCDS46173.1	ENSP00000439454	B6A8C7		UPI00034F23B2	NM_001135686.2			3/5		Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF84,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		rs1335591843	.												A	4	1	29	54075043	54075043	G	A	1	0	0	0	0	0	1	0	0	15957	1095	38	1		1	TARM1	19	54075043	Nonsense_Mutation	SNP	G	C3L-01924_TP	3166352	54075043	4542573	577	8892											
LENG8	0	.	GRCh38	chr19	54454969	54454969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccgcccctgggactggagGtctcaagttcaacatccaga	10	7	11	13	1	2	1	2	0	1	1	4	3	3	3	4	3	2	1	4	3	2	1	rs200747306		C3L-01924_TP	C3L-01924_NB	G	G																c.698G>C	p.Gly233Ala	p.G233A	ENST00000326764	7/16	136	99	37	179	178	1	strelka-varscan-mutect	LENG8,missense_variant,p.Gly233Ala,ENST00000610347,;LENG8,missense_variant,p.Gly196Ala,ENST00000376514,;LENG8,missense_variant,p.Gly233Ala,ENST00000326764,NM_052925.3;LENG8,missense_variant,p.Gly196Ala,ENST00000616932,;LENG8,missense_variant,p.Gly233Ala,ENST00000439657,;LENG8,upstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000443957,;LENG8,downstream_gene_variant,,ENST00000436479,;LENG8,downstream_gene_variant,,ENST00000462541,;	C	ENST00000326764	Transcript	missense_variant	1177/3991	698/2403	233/800	G/A	gGt/gCt	rs200747306	1		1	LENG8	HGNC	HGNC:15500	protein_coding	YES	CCDS12894.1	ENSP00000318374	Q96PV6	A0A024R4R9	UPI0000074196	NM_052925.3	tolerated(0.21)		7/16		hmmpanther:PTHR12436:SF4,hmmpanther:PTHR12436																	MODERATE	1	SNV	1			1										PASS		rs200747306	.												C	3	2	29	54454969	54454969	G	C	1	0	0	0	0	1	0	0	0	8632	1261	44	4		4	LENG8	19	54454969	Missense_Mutation	SNP	G	C3L-01924_TP	379926	54454969	4162647	578	8893											
TNNT1	0	.	GRCh38	chr19	55138043	55138043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcctctgcccgcttcttgGcctcttcctcttccttcctc	1	16	4	20	1	4	0	0	0	4	0	9	0	8	0	6	1	1	1	6	1	0	5			C3L-01924_TP	C3L-01924_NB	G	G																c.419C>A	p.Ala140Asp	p.A140D	ENST00000588981	10/14	434	335	99	582	581	1	strelka-varscan-mutect	TNNT1,missense_variant,p.Ala140Asp,ENST00000588981,NM_003283.5;TNNT1,missense_variant,p.Ala70Asp,ENST00000587465,;TNNT1,missense_variant,p.Ala129Asp,ENST00000587758,NM_001291774.1;TNNT1,missense_variant,p.Ala70Asp,ENST00000585321,;TNNT1,missense_variant,p.Ala140Asp,ENST00000291901,NM_001126132.2;TNNT1,missense_variant,p.Ala129Asp,ENST00000356783,NM_001126133.2;TNNT1,missense_variant,p.Ala70Asp,ENST00000536926,;TNNT1,missense_variant,p.Ala140Asp,ENST00000593046,;TNNT1,missense_variant,p.Ala88Asp,ENST00000593194,;TNNT1,missense_variant,p.Ala37Asp,ENST00000588426,;TNNT1,missense_variant,p.Ala129Asp,ENST00000589226,;TNNT1,missense_variant,p.Ala25Asp,ENST00000589745,;TNNT1,missense_variant,p.Ala136Asp,ENST00000588147,;TNNT1,upstream_gene_variant,,ENST00000586649,;TNNT1,non_coding_transcript_exon_variant,,ENST00000592920,;TNNT1,3_prime_UTR_variant,,ENST00000587089,;	T	ENST00000588981	Transcript	missense_variant	624/1163	419/837	140/278	A/D	gCc/gAc	COSM1526397	1		-1	TNNT1	HGNC	HGNC:11948	protein_coding	YES	CCDS12917.1	ENSP00000467176	P13805		UPI000016A37B	NM_003283.5	deleterious(0.02)		10/14		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11521,hmmpanther:PTHR11521:SF6,Pfam_domain:PF00992											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	29	55138043	55138043	G	T	1	0	0	0	0	1	0	0	0	16803	1203	42	2		2	TNNT1	19	55138043	Missense_Mutation	SNP	G	C3L-01924_TP	683074	55138043	3479573	579	8894											
NLRP13	0	.	GRCh38	chr19	55932175	55932175	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgcccctggggggccGaccagaagtccatcagctgc	8	5	15	13	1	1	1	1	0	0	1	2	3	2	2	5	4	3	1	5	4	2	0	rs373438857		C3L-01924_TP	C3L-01924_NB	G	G																c.137C>A	p.Ser46Ter	p.S46*	ENST00000342929	1/11	175	152	23	274	274	0	strelka-varscan-mutect	NLRP13,stop_gained,p.Ser46Ter,ENST00000588751,NM_001321057.1;NLRP13,stop_gained,p.Ser46Ter,ENST00000342929,NM_176810.2;	T	ENST00000342929	Transcript	stop_gained	137/3132	137/3132	46/1043	S/*	tCg/tAg	rs373438857	1		-1	NLRP13	HGNC	HGNC:22937	protein_coding	YES	CCDS33119.1	ENSP00000343891	Q86W25		UPI00001AEEC8	NM_176810.2			1/11		Gene3D:1.10.533.10,Pfam_domain:PF02758,PROSITE_profiles:PS50824,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF10,SMART_domains:SM01289,Superfamily_domains:SSF47986																	HIGH	1	SNV	1			1										PASS		rs373438857	.												T	4	4	29	55932175	55932175	G	T	1	0	0	0	0	0	1	0	0	10512	1059	37	1		1	NLRP13	19	55932175	Nonsense_Mutation	SNP	G	C3L-01924_TP	794132	55932175	2685441	580	8895											
PEG3	0	.	GRCh38	chr19	56816799	56816799	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgaagctcactaaaggtgGggctaggcatgaaggcttcc	10	9	13	9	0	2	2	1	2	1	0	3	2	3	2	1	5	1	4	1	5	5	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1643C>G	p.Pro548Arg	p.P548R	ENST00000326441	10/10	152	106	46	233	233	0	strelka-varscan-mutect	PEG3,missense_variant,p.Pro548Arg,ENST00000326441,NM_001146186.1,NM_001146184.1,NM_006210.2;PEG3,missense_variant,p.Pro424Arg,ENST00000598410,NM_001146187.1;PEG3,missense_variant,p.Pro548Arg,ENST00000599534,;PEG3,missense_variant,p.Pro548Arg,ENST00000599577,;PEG3,missense_variant,p.Pro422Arg,ENST00000593695,NM_001146185.1;PEG3,missense_variant,p.Pro393Arg,ENST00000600833,;ZIM2,intron_variant,,ENST00000629319,NM_001146326.1,NM_001146327.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000593711,NM_015363.4;ZIM2,intron_variant,,ENST00000601070,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	C	ENST00000326441	Transcript	missense_variant	2007/8723	1643/4767	548/1588	P/R	cCc/cGc		1		-1	PEG3	HGNC	HGNC:8826	protein_coding	YES	CCDS12948.1	ENSP00000326581	Q9GZU2		UPI000006D36D	NM_001146186.1,NM_001146184.1,NM_006210.2	deleterious(0)		10/10		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1200148515	.												C	3	2	29	56816799	56816799	G	C	1	0	0	0	0	1	0	0	0	11808	1232	43	4		4	PEG3	19	56816799	Missense_Mutation	SNP	G	C3L-01924_TP	884624	56816799	1800817	581	8896											
ZSCAN4	0	.	GRCh38	chr19	57678691	57678691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcatcagataattcacaCaggaaagaagcctttcacat	15	9	8	9	0	3	2	3	0	0	2	3	3	3	3	1	2	2	1	1	2	3	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1088C>G	p.Thr363Arg	p.T363R	ENST00000318203	5/5	153	124	29	183	183	0	strelka-varscan-mutect	ZSCAN4,missense_variant,p.Thr363Arg,ENST00000318203,NM_152677.2;ZSCAN4,missense_variant,p.Thr363Arg,ENST00000612521,;ZNF551,upstream_gene_variant,,ENST00000282296,NM_138347.4;ZNF551,upstream_gene_variant,,ENST00000601064,NM_001270938.1;AC003006.7,upstream_gene_variant,,ENST00000594684,;ZNF551,upstream_gene_variant,,ENST00000596085,;ZNF551,upstream_gene_variant,,ENST00000599402,;AC003006.7,upstream_gene_variant,,ENST00000599221,;	G	ENST00000318203	Transcript	missense_variant	1785/2246	1088/1302	363/433	T/R	aCa/aGa		1		1	ZSCAN4	HGNC	HGNC:23709	protein_coding	YES	CCDS12958.1	ENSP00000321963	Q8NAM6		UPI000006E923	NM_152677.2	tolerated(0.51)		5/5		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF45,Superfamily_domains:SSF57667																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	29	57678691	57678691	C	G	1	0	0	0	0	1	0	0	0	18836	478	17	4		4	ZSCAN4	19	57678691	Missense_Mutation	SNP	C	C3L-01924_TP	861892	57678691	938925	582	8897											
ZNF135	0	.	GRCh38	chr19	58066824	58066824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaacagtgtcatcttggtaGaaagattcctgtgggatggt	10	12	12	7	0	2	2	1	0	1	2	3	3	3	3	2	3	1	1	2	3	3	3	rs746813877		C3L-01924_TP	C3L-01924_NB	G	G																c.412G>A	p.Glu138Lys	p.E138K	ENST00000401053	4/4	202	154	48	314	314	0	strelka-varscan-mutect	ZNF135,missense_variant,p.Glu72Lys,ENST00000506786,NM_001289402.1;ZNF135,missense_variant,p.Glu138Lys,ENST00000401053,NM_001164529.1,NM_007134.1;ZNF135,missense_variant,p.Glu114Lys,ENST00000313434,NM_001289401.1;ZNF135,missense_variant,p.Glu126Lys,ENST00000511556,NM_003436.3;ZNF135,missense_variant,p.Glu126Lys,ENST00000359978,NM_001164530.1;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;	A	ENST00000401053	Transcript	missense_variant	415/3346	412/2049	138/682	E/K	Gaa/Aaa	rs746813877	1		1	ZNF135	HGNC	HGNC:12919	protein_coding	YES	CCDS54329.1	ENSP00000441410	P52742		UPI0001B3CB2A	NM_001164529.1,NM_007134.1	tolerated(0.17)		4/4		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF250																	MODERATE	1	SNV	1			1										PASS		rs746813877	.												A	3	1	29	58066824	58066824	G	A	1	0	0	0	0	1	0	0	0	18306	943	33	3		3	ZNF135	19	58066824	Missense_Mutation	SNP	G	C3L-01924_TP	388133	58066824	550792	583	8898											
DEFB126	0	.	GRCh38	chr20	145518	145518	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttgggcaatgtgcggcaaAcaaagggactgctgtgttcc	9	9	15	8	1	0	0	0	0	0	0	1	1	1	1	1	4	3	5	1	4	3	2	rs754383543		C3L-01924_TP	C3L-01924_NB	A	A																c.162A>G	p.=	p.K54K	ENST00000382398	2/2	18	13	5	24	24	0	varscan-mutect	DEFB126,synonymous_variant,p.=,ENST00000382398,NM_030931.3;DEFB126,intron_variant,,ENST00000542572,;	G	ENST00000382398	Transcript	synonymous_variant	422/655	162/336	54/111	K	aaA/aaG	rs754383543	1		1	DEFB126	HGNC	HGNC:15900	protein_coding	YES	CCDS12990.1	ENSP00000371835	Q9BYW3		UPI000013CBC7	NM_030931.3			2/2		PD289049,Pfam_domain:PF13841,hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF0																	LOW	1	SNV	1			1										PASS		rs754383543	.												G	2	3	29	145518	145518	A	G	1	0	0	0	0	0	0	0	1	4215	40	2	5		5	DEFB126	20	145518	Silent	SNP	A	C3L-01924_TP		145518	64298649	584	8899											
SIRPA	0	.	GRCh38	chr20	1915350	1915350	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccatccgcatcggtaacAtcaccccagcagatgccggc	9	8	8	16	3	1	1	1	0	0	1	4	1	3	1	5	2	3	3	5	2	1	2	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.331A>G	p.Ile111Val	p.I111V	ENST00000400068	3/9	265	200	65	228	228	0	strelka-varscan-mutect	SIRPA,missense_variant,p.Ile111Val,ENST00000622179,;SIRPA,missense_variant,p.Ile111Val,ENST00000400068,NM_001040022.1;SIRPA,missense_variant,p.Ile111Val,ENST00000358771,NM_001040023.1;SIRPA,missense_variant,p.Ile111Val,ENST00000356025,NM_080792.2;	G	ENST00000400068	Transcript	missense_variant	691/4201	331/1515	111/504	I/V	Atc/Gtc		1		1	SIRPA	HGNC	HGNC:9662	protein_coding	YES	CCDS13022.1	ENSP00000382941	P78324		UPI0000073ADE	NM_001040022.1	tolerated(0.85)		3/9		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF12,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	29	1915350	1915350	A	G	1	0	0	0	0	1	0	0	0	14595	217	8	5		5	SIRPA	20	1915350	Missense_Mutation	SNP	A	C3L-01924_TP	1769832	1915350	62528817	585	8900											
LAMP5	0	.	GRCh38	chr20	9529665	9529665	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataaatgcccagtggatgagCgggagcaactggaagaaacc	15	5	13	8	1	0	2	0	1	0	1	0	5	0	5	2	3	5	1	2	3	5	1	rs368961716		C3L-01924_TP	C3L-01924_NB	C	C																c.688C>A	p.=	p.R230R	ENST00000246070	6/6	74	70	4	107	107	0	varscan-mutect	LAMP5,synonymous_variant,p.=,ENST00000246070,NM_012261.3;LAMP5,synonymous_variant,p.=,ENST00000427562,NM_001199897.1;	A	ENST00000246070	Transcript	synonymous_variant	1180/2039	688/843	230/280	R	Cgg/Agg	rs368961716	1		1	LAMP5	HGNC	HGNC:16097	protein_coding	YES	CCDS13106.1	ENSP00000246070	Q9UJQ1		UPI0000128675	NM_012261.3			6/6		hmmpanther:PTHR11506,Pfam_domain:PF01299																	LOW	1	SNV	1			1										PASS		rs368961716	.												A	2	1	29	9529665	9529665	C	A	1	0	0	0	0	0	0	0	1	8524	759	27	1		1	LAMP5	20	9529665	Silent	SNP	C	C3L-01924_TP	7614315	9529665	54914502	586	8901											
FOXA2	0	.	GRCh38	chr20	22582349	22582349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggagtctcggaggccggcCcggcggcctccccgagttga	4	5	16	16	6	1	1	0	1	1	0	3	4	2	3	6	6	0	1	6	6	0	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.893G>T	p.Gly298Val	p.G298V	ENST00000419308	2/2	29	23	6	52	52	0	strelka-mutect	FOXA2,missense_variant,p.Gly298Val,ENST00000419308,NM_021784.4;FOXA2,missense_variant,p.Gly292Val,ENST00000377115,NM_153675.2;LINC00261,upstream_gene_variant,,ENST00000564492,;	A	ENST00000419308	Transcript	missense_variant	1078/2422	893/1392	298/463	G/V	gGg/gTg		1		-1	FOXA2	HGNC	HGNC:5022	protein_coding	YES	CCDS46585.1	ENSP00000400341	Q9Y261	B0ZTD4	UPI000040F9A0	NM_021784.4	deleterious(0.03)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF167																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	22582349	22582349	C	A	1	0	0	0	0	1	0	0	0	5850	623	22	2		2	FOXA2	20	22582349	Missense_Mutation	SNP	C	C3L-01924_TP	13052684	22582349	41861818	587	8902											
CST8	0	.	GRCh38	chr20	23492957	23492957	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcataattgctaaccaacaGgtcacaaatcttctggaata	15	11	6	9	0	3	0	1	0	2	0	3	1	3	1	1	2	4	2	1	2	6	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.232-1G>C		p.X78_splice	ENST00000246012		115	78	37	180	179	1	strelka-varscan-mutect	CST8,splice_acceptor_variant,,ENST00000246012,NM_001281730.1,NM_005492.3;CST8,splice_acceptor_variant,,ENST00000449810,;RP3-333B15.4,intron_variant,,ENST00000619495,;RP3-333B15.6,upstream_gene_variant,,ENST00000615088,;	C	ENST00000246012	Transcript	splice_acceptor_variant	-/890	232/429	78/142				1		1	CST8	HGNC	HGNC:2480	protein_coding	YES	CCDS13156.1	ENSP00000246012	O60676		UPI00001285BB	NM_001281730.1,NM_005492.3				2/3																		HIGH	1	SNV	1			1										PASS		rs1346114504	.												C	5	2	29	23492957	23492957	G	C	1	0	0	0	0	0	0	1	0	3778	1014	35	4		4	CST8	20	23492957	Splice_Site	SNP	G	C3L-01924_TP	910608	23492957	40951210	588	8903											
BPIFB2	0	.	GRCh38	chr20	33013844	33013844	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggagctgacgctgcctgtgGaactgctggctgacacccgc	6	8	14	13	2	0	2	0	2	0	0	0	4	0	4	2	3	4	4	2	3	1	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.343G>C	p.Glu115Gln	p.E115Q	ENST00000170150	5/16	119	105	14	126	125	1	strelka-varscan-mutect	BPIFB2,missense_variant,p.Glu115Gln,ENST00000170150,NM_025227.2;	C	ENST00000170150	Transcript	missense_variant	538/1898	343/1377	115/458	E/Q	Gaa/Caa		1		1	BPIFB2	HGNC	HGNC:16177	protein_coding	YES	CCDS13210.1	ENSP00000170150	Q8N4F0		UPI00000377B0	NM_025227.2	tolerated(0.56)		5/16		Low_complexity_(Seg):seg,hmmpanther:PTHR10504:SF92,hmmpanther:PTHR10504,Pfam_domain:PF01273,PIRSF_domain:PIRSF002417,Superfamily_domains:SSF55394																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	33013844	33013844	G	C	1	0	0	0	0	1	0	0	0	1658	1175	41	4		4	BPIFB2	20	33013844	Missense_Mutation	SNP	G	C3L-01924_TP	9520887	33013844	31430323	589	8904											
CDK5RAP1	0	.	GRCh38	chr20	33387501	33387501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccattttctctctgttgaGaatctcctccttcaacctct	7	17	3	14	0	5	1	1	1	4	1	8	2	6	1	4	0	2	1	4	0	3	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.577C>T	p.Leu193Phe	p.L193F	ENST00000346416	6/14	219	161	58	238	238	0	strelka-varscan-mutect	CDK5RAP1,missense_variant,p.Leu193Phe,ENST00000357886,;CDK5RAP1,missense_variant,p.Leu193Phe,ENST00000346416,NM_016082.4,NM_001278167.1,NM_016408.3;CDK5RAP1,missense_variant,p.Leu103Phe,ENST00000473997,NM_001278169.1;CDK5RAP1,missense_variant,p.Leu193Phe,ENST00000339269,NM_001278168.1;CDK5RAP1,missense_variant,p.Leu12Phe,ENST00000427097,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000477105,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000498525,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000461356,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000488723,;CDK5RAP1,intron_variant,,ENST00000481964,;CDK5RAP1,intron_variant,,ENST00000496381,;CDK5RAP1,intron_variant,,ENST00000482967,;CDK5RAP1,intron_variant,,ENST00000471264,;CDK5RAP1,intron_variant,,ENST00000460043,;	A	ENST00000346416	Transcript	missense_variant	731/2122	577/1764	193/587	L/F	Ctc/Ttc		1		-1	CDK5RAP1	HGNC	HGNC:15880	protein_coding	YES	CCDS13219.1	ENSP00000217372	Q96SZ6	A0A0S2Z5J9	UPI000004495E	NM_016082.4,NM_001278167.1,NM_016408.3	deleterious(0.01)		6/14		PROSITE_profiles:PS51449,HAMAP:MF_01864,hmmpanther:PTHR11918,hmmpanther:PTHR11918:SF43,TIGRFAM_domain:TIGR01574,TIGRFAM_domain:TIGR00089,Pfam_domain:PF00919																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	33387501	33387501	G	A	1	0	0	0	0	1	0	0	0	2849	942	33	3		3	CDK5RAP1	20	33387501	Missense_Mutation	SNP	G	C3L-01924_TP	373657	33387501	31056666	590	8905											
RALY	0	.	GRCh38	chr20	34072280	34072280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaatgagcgccatgcccGggcagctgtgctgggagaga	8	6	15	12	2	0	2	0	1	0	1	1	4	1	3	3	2	4	3	3	2	1	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.206G>T	p.Arg69Leu	p.R69L	ENST00000246194	3/10	202	172	30	196	195	1	strelka-varscan-mutect	RALY,missense_variant,p.Arg69Leu,ENST00000375114,NM_007367.3;RALY,missense_variant,p.Arg69Leu,ENST00000246194,NM_016732.2;RALY,missense_variant,p.Arg69Leu,ENST00000448364,;RALY,missense_variant,p.Arg69Leu,ENST00000442805,;RALY,missense_variant,p.Arg69Leu,ENST00000413297,;RALY,intron_variant,,ENST00000333552,;RALY,intron_variant,,ENST00000493399,;RALY,upstream_gene_variant,,ENST00000488227,;RALY,upstream_gene_variant,,ENST00000489384,;RALY,upstream_gene_variant,,ENST00000481580,;	T	ENST00000246194	Transcript	missense_variant	708/1789	206/921	69/306	R/L	cGg/cTg		1		1	RALY	HGNC	HGNC:15921	protein_coding	YES	CCDS13230.1	ENSP00000246194	Q9UKM9		UPI00000467E6	NM_016732.2	deleterious(0.04)		3/10		Gene3D:3.30.70.330,Pfam_domain:PF00076,PIRSF_domain:PIRSF037992,PROSITE_profiles:PS50102,hmmpanther:PTHR13968,hmmpanther:PTHR13968:SF6,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		rs1417682106	.												T	3	4	29	34072280	34072280	G	T	1	0	0	0	0	1	0	0	0	13178	1116	39	1		1	RALY	20	34072280	Missense_Mutation	SNP	G	C3L-01924_TP	684779	34072280	30371887	591	8906											
LPIN3	0	.	GRCh38	chr20	41354865	41354865	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaaggagcagcaggggTgagtgagaccccctattggg	10	5	16	10	0	0	2	0	2	0	1	0	4	0	3	3	4	3	2	3	4	2	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1664+2T>A		p.X555_splice	ENST00000373257		75	68	7	89	88	1	strelka-varscan-mutect	LPIN3,splice_donor_variant,,ENST00000373257,;LPIN3,splice_donor_variant,,ENST00000632009,NM_001301860.1;LPIN3,splice_donor_variant,,ENST00000445975,;LPIN3,upstream_gene_variant,,ENST00000491528,;LPIN3,upstream_gene_variant,,ENST00000496565,;	A	ENST00000373257	Transcript	splice_donor_variant	-/4363	1664/2556	555/851				1		1	LPIN3	HGNC	HGNC:14451	protein_coding	YES		ENSP00000362354	Q9BQK8		UPI0000470AE3					13/19																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	29	41354865	41354865	T	A	1	0	0	0	0	0	0	1	0	8820	1710	59	4		4	LPIN3	20	41354865	Splice_Site	SNP	T	C3L-01924_TP	7282585	41354865	23089302	592	8907											
PTPRT	0	.	GRCh38	chr20	42448324	42448324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattctagaggaacagctcCtggaactacagaatggaaaa	16	7	11	7	0	1	2	0	0	1	2	2	6	2	6	1	4	4	1	1	4	7	3			C3L-01924_TP	C3L-01924_NB	C	C																c.1456G>A	p.Gly486Arg	p.G486R	ENST00000373198	9/32	206	179	27	219	219	0	strelka-mutect	PTPRT,missense_variant,p.Gly486Arg,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Gly486Arg,ENST00000373193,;PTPRT,missense_variant,p.Gly486Arg,ENST00000373201,;PTPRT,missense_variant,p.Gly486Arg,ENST00000373190,;PTPRT,missense_variant,p.Gly486Arg,ENST00000373184,;PTPRT,missense_variant,p.Gly486Arg,ENST00000356100,;PTPRT,missense_variant,p.Gly486Arg,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Gly104Arg,ENST00000612229,;PTPRT,missense_variant,p.Gly102Arg,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	T	ENST00000373198	Transcript	missense_variant	1692/12746	1456/4383	486/1460	G/R	Gga/Aga	COSM3291959,COSM4292159	1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	deleterious(0)		9/32		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,SMART_domains:SM00060,Superfamily_domains:SSF49265											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												T	3	4	29	42448324	42448324	C	T	1	0	0	0	0	1	0	0	0	12967	695	24	3		3	PTPRT	20	42448324	Missense_Mutation	SNP	C	C3L-01924_TP	1093459	42448324	21995843	593	8908											
SGK2	0	.	GRCh38	chr20	43567098	43567098	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaatgggaacatcaacctgGggccttcagccaacccaaag	13	5	9	14	0	2	0	2	0	0	0	2	1	2	1	5	3	4	0	5	3	5	1			C3L-01924_TP	C3L-01924_NB	G	G																c.247G>T	p.Gly83Trp	p.G83W	ENST00000341458	2/12	213	146	67	214	214	0	strelka-varscan-mutect	SGK2,missense_variant,p.Gly83Trp,ENST00000341458,NM_016276.3;SGK2,missense_variant,p.Gly23Trp,ENST00000373100,;SGK2,missense_variant,p.Gly23Trp,ENST00000423407,NM_001199264.1;SGK2,missense_variant,p.Gly23Trp,ENST00000373092,NM_170693.2;SGK2,missense_variant,p.Gly49Trp,ENST00000426287,;SGK2,missense_variant,p.Gly23Trp,ENST00000412111,;SGK2,downstream_gene_variant,,ENST00000617268,;SGK2,upstream_gene_variant,,ENST00000485914,;SGK2,missense_variant,p.Gly23Trp,ENST00000496343,;SGK2,missense_variant,p.Gly23Trp,ENST00000373077,;RP1-138B7.6,3_prime_UTR_variant,,ENST00000621802,;SGK2,non_coding_transcript_exon_variant,,ENST00000617358,;	T	ENST00000341458	Transcript	missense_variant	800/2498	247/1284	83/427	G/W	Ggg/Tgg	COSM4913390,COSM723611	1		1	SGK2	HGNC	HGNC:13900	protein_coding	YES	CCDS13320.1	ENSP00000340608	Q9HBY8		UPI0000033528	NM_016276.3	deleterious(0)		2/12		hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF197											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	29	43567098	43567098	G	T	1	0	0	0	0	1	0	0	0	14468	1232	43	2		2	SGK2	20	43567098	Missense_Mutation	SNP	G	C3L-01924_TP	1118774	43567098	20877069	594	8909											
TOX2	0	.	GRCh38	chr20	44066802	44066802	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatccaaccccaccagcAgcggggactgggacagcagc	10	2	12	17	1	0	0	0	0	0	0	1	2	1	2	5	3	5	2	5	3	1	0	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.1429A>C	p.Ser477Arg	p.S477R	ENST00000341197	8/9	178	151	27	166	166	0	strelka-varscan-mutect	TOX2,missense_variant,p.Ser459Arg,ENST00000358131,NM_001098798.1;TOX2,missense_variant,p.Ser435Arg,ENST00000372999,NM_032883.2;TOX2,missense_variant,p.Ser477Arg,ENST00000341197,NM_001098797.1;TOX2,missense_variant,p.Ser435Arg,ENST00000423191,NM_001098796.1;TOX2,synonymous_variant,p.=,ENST00000413823,;TOX2,non_coding_transcript_exon_variant,,ENST00000435864,;	C	ENST00000341197	Transcript	missense_variant	1457/1880	1429/1521	477/506	S/R	Agc/Cgc		1		1	TOX2	HGNC	HGNC:16095	protein_coding	YES	CCDS46603.1	ENSP00000344724	Q96NM4		UPI000040F535	NM_001098797.1	deleterious(0.01)		8/9		Low_complexity_(Seg):seg,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF220																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	29	44066802	44066802	A	C	1	0	0	0	0	1	0	0	0	16856	188	7	5		5	TOX2	20	44066802	Missense_Mutation	SNP	A	C3L-01924_TP	499704	44066802	20377365	595	8910											
CASS4	0	.	GRCh38	chr20	56451918	56451918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggatttatgacactccaGtgtctccaggaaaggccagc	12	9	10	10	0	1	1	0	1	1	0	3	3	2	3	3	3	1	0	3	3	3	2	rs764535764		C3L-01924_TP	C3L-01924_NB	G	G																c.742G>T	p.Val248Leu	p.V248L	ENST00000360314	6/7	200	171	29	255	255	0	strelka-varscan-mutect	CASS4,missense_variant,p.Val248Leu,ENST00000360314,NM_001164116.1,NM_020356.3,NM_001164114.1;CASS4,intron_variant,,ENST00000434344,NM_001164115.1;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;	T	ENST00000360314	Transcript	missense_variant	967/2619	742/2361	248/786	V/L	Gtg/Ttg	rs764535764	1		1	CASS4	HGNC	HGNC:15878	protein_coding	YES	CCDS33492.1	ENSP00000353462	Q9NQ75		UPI00001285DB	NM_001164116.1,NM_020356.3,NM_001164114.1	deleterious(0.04)		6/7		hmmpanther:PTHR10654:SF19,hmmpanther:PTHR10654																	MODERATE	1	SNV	1			1										PASS		rs764535764	.												T	3	4	29	56451918	56451918	G	T	1	0	0	0	0	1	0	0	0	2382	1029	36	2		2	CASS4	20	56451918	Missense_Mutation	SNP	G	C3L-01924_TP	12385116	56451918	7992249	596	8911											
GNAS	0	.	GRCh38	chr20	58854641	58854641	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgactccggggcggcccCtgacgccccagccgatccag	5	4	12	20	5	0	1	0	1	0	0	3	3	3	1	8	3	1	0	8	3	0	0	rs148033592		C3L-01924_TP	C3L-01924_NB	C	C																c.1376C>A	p.Pro459His	p.P459H	ENST00000371100	1/13	145	119	26	155	155	0	strelka-varscan-mutect	GNAS,missense_variant,p.Pro459His,ENST00000371100,NM_080425.2;GNAS,missense_variant,p.Pro459His,ENST00000371099,;GNAS,missense_variant,p.Pro459His,ENST00000371102,;GNAS,missense_variant,p.Leu396Met,ENST00000306120,NM_001077490.1;GNAS,intron_variant,,ENST00000313949,;GNAS,intron_variant,,ENST00000371075,NM_016592.2;GNAS,intron_variant,,ENST00000371098,;GNAS,intron_variant,,ENST00000419558,;GNAS,intron_variant,,ENST00000453292,;GNAS,upstream_gene_variant,,ENST00000423897,;GNAS,upstream_gene_variant,,ENST00000450130,;GNAS,upstream_gene_variant,,ENST00000349036,;GNAS-AS1,upstream_gene_variant,,ENST00000424094,;GNAS-AS1,upstream_gene_variant,,ENST00000598163,;GNAS-AS1_5,downstream_gene_variant,,ENST00000614281,;GNAS-AS1_4,downstream_gene_variant,,ENST00000616546,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,non_coding_transcript_exon_variant,,ENST00000481768,;GNAS,intron_variant,,ENST00000491348,;GNAS,intron_variant,,ENST00000472183,;GNAS,intron_variant,,ENST00000493744,;GNAS,intron_variant,,ENST00000482112,;GNAS,intron_variant,,ENST00000490374,;GNAS,intron_variant,,ENST00000467227,;GNAS,intron_variant,,ENST00000462499,;	A	ENST00000371100	Transcript	missense_variant	1928/4029	1376/3114	459/1037	P/H	cCt/cAt	rs148033592	1		1	GNAS	HGNC	HGNC:4392	protein_coding	YES	CCDS46622.1	ENSP00000360141	Q5JWF2		UPI0000E444AE	NM_080425.2	deleterious_low_confidence(0.01)		1/13		Low_complexity_(Seg):seg										not_provided							MODERATE	1	SNV	5		1	1										PASS		rs148033592	.												A	3	1	29	58854641	58854641	C	A	1	0	0	0	0	1	0	0	0	6390	681	24	2		2	GNAS	20	58854641	Missense_Mutation	SNP	C	C3L-01924_TP	2402723	58854641	5589526	597	8912											
PCMTD2	0	.	GRCh38	chr20	64265291	64265291	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaccttcctttgttactggGaattgcctggagatttctcc	7	15	9	10	0	1	1	0	0	1	1	3	4	2	2	4	2	3	1	4	2	3	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.444G>A	p.=	p.G148G	ENST00000308824	4/6	90	65	25	93	93	0	strelka-varscan-mutect	PCMTD2,synonymous_variant,p.=,ENST00000308824,NM_018257.2;PCMTD2,synonymous_variant,p.=,ENST00000369758,NM_001104925.1;PCMTD2,synonymous_variant,p.=,ENST00000299468,;PCMTD2,intron_variant,,ENST00000609372,;PCMTD2,downstream_gene_variant,,ENST00000609764,;PCMTD2,upstream_gene_variant,,ENST00000609818,;PCMTD2,downstream_gene_variant,,ENST00000610074,;PCMTD2,downstream_gene_variant,,ENST00000608844,;	A	ENST00000308824	Transcript	synonymous_variant	571/3843	444/1086	148/361	G	ggG/ggA		1		1	PCMTD2	HGNC	HGNC:15882	protein_coding	YES	CCDS13559.1	ENSP00000307854	Q9NV79		UPI0000049C88	NM_018257.2			4/6		Gene3D:3.40.50.150,Pfam_domain:PF01135,hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF2,Superfamily_domains:SSF53335																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	29	64265291	64265291	G	A	1	0	0	0	0	0	0	0	1	11675	1161	41	3		3	PCMTD2	20	64265291	Silent	SNP	G	C3L-01924_TP	5410650	64265291	178876	598	8913											
APP	0	.	GRCh38	chr21	25911840	25911840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacgggaaggagctccaCggtggttttcgtttcggtca	7	12	13	9	4	2	0	2	0	0	0	5	2	3	2	1	5	1	3	1	5	1	4	rs199887707		C3L-01924_TP	C3L-01924_NB	C	C																c.1810G>T	p.Val604Leu	p.V604L	ENST00000346798	14/18	546	416	130	569	569	0	strelka-varscan-mutect	APP,missense_variant,p.Val585Leu,ENST00000357903,NM_201413.2,NM_001204302.1;APP,missense_variant,p.Val604Leu,ENST00000346798,NM_000484.3;APP,missense_variant,p.Val529Leu,ENST00000348990,NM_201414.2,NM_001204303.1;APP,missense_variant,p.Val494Leu,ENST00000359726,NM_001136131.2;APP,missense_variant,p.Val473Leu,ENST00000354192,NM_001136129.2;APP,missense_variant,p.Val580Leu,ENST00000440126,NM_001136016.3;APP,missense_variant,p.Val548Leu,ENST00000439274,NM_001136130.2;APP,missense_variant,p.Val604Leu,ENST00000358918,NM_001204301.1;	A	ENST00000346798	Transcript	missense_variant	1844/3467	1810/2313	604/770	V/L	Gtg/Ttg	rs199887707,COSM1580523	1		-1	APP	HGNC	HGNC:620	protein_coding	YES	CCDS13576.1	ENSP00000284981	P05067	A0A140VJC8	UPI000002DB1C	NM_000484.3	tolerated(0.54)		14/18		hmmpanther:PTHR23103,hmmpanther:PTHR23103:SF7											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs199887707	.												A	3	1	29	25911840	25911840	C	A	1	0	0	0	0	1	0	0	0	938	536	19	1		1	APP	21	25911840	Missense_Mutation	SNP	C	C3L-01924_TP		25911840	20798143	599	8914											
ADAMTS1	0	.	GRCh38	chr21	26838279	26838279	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatatcatgatatccaggtCtgcaggtgacaaaaacaggc	14	9	10	8	0	2	3	1	3	1	0	3	3	3	3	1	3	2	1	1	3	4	2	rs111919920		C3L-01924_TP	C3L-01924_NB	C	C																c.2205-1G>T		p.X735_splice	ENST00000284984		60	45	15	74	74	0	strelka-varscan-mutect	ADAMTS1,splice_acceptor_variant,,ENST00000284984,NM_006988.4;ADAMTS1,downstream_gene_variant,,ENST00000451462,;ADAMTS1,downstream_gene_variant,,ENST00000517777,;ADAMTS1,downstream_gene_variant,,ENST00000517452,;ADAMTS1,splice_acceptor_variant,,ENST00000464589,;ADAMTS1,splice_acceptor_variant,,ENST00000492656,;	A	ENST00000284984	Transcript	splice_acceptor_variant	-/5191	2205/2904	735/967			rs111919920	1		-1	ADAMTS1	HGNC	HGNC:217	protein_coding	YES	CCDS33524.1	ENSP00000284984	Q9UHI8		UPI000013DDC6	NM_006988.4				8/8																		HIGH	1	SNV	1			1										PASS		rs111919920	.												A	5	1	29	26838279	26838279	C	A	1	0	0	0	0	0	0	1	0	299	927	32	2		2	ADAMTS1	21	26838279	Splice_Site	SNP	C	C3L-01924_TP	926439	26838279	19871704	600	8915											
KRTAP23-1	0	.	GRCh38	chr21	30348493	30348493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggagatcaaaggttcagtGctgtagaccaggttgctggg	9	10	16	6	0	2	2	2	0	0	2	2	3	2	2	1	4	2	5	1	4	2	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.114C>A	p.Ser38Arg	p.S38R	ENST00000334160	1/1	368	297	71	362	361	1	strelka-varscan-mutect	KRTAP23-1,missense_variant,p.Ser38Arg,ENST00000334160,NM_181624.1;	T	ENST00000334160	Transcript	missense_variant	117/211	114/198	38/65	S/R	agC/agA		1		-1	KRTAP23-1	HGNC	HGNC:18928	protein_coding	YES	CCDS33533.1	ENSP00000346536	A1A580		UPI00001A9E49	NM_181624.1	tolerated_low_confidence(0.09)		1/1		hmmpanther:PTHR19051:SF7,hmmpanther:PTHR19051,Pfam_domain:PF05287																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	29	30348493	30348493	G	T	1	0	0	0	0	1	0	0	0	8432	1310	46	2		2	KRTAP23-1	21	30348493	Missense_Mutation	SNP	G	C3L-01924_TP	3510214	30348493	16361490	601	8916											
KRTAP19-2	0	.	GRCh38	chr21	30487196	30487196	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actagagcagcagcttagtaGaagccagtgaatctatatct	14	10	9	8	0	2	3	0	1	2	2	2	3	2	3	1	0	4	4	1	0	7	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.153C>G	p.Phe51Leu	p.F51L	ENST00000334055	1/1	178	143	35	185	185	0	strelka-varscan-mutect	KRTAP19-2,missense_variant,p.Phe51Leu,ENST00000334055,NM_181608.1;KRTAP19-3,downstream_gene_variant,,ENST00000334063,NM_181609.3;	C	ENST00000334055	Transcript	missense_variant	241/380	153/159	51/52	F/L	ttC/ttG		1		-1	KRTAP19-2	HGNC	HGNC:18937	protein_coding	YES	CCDS13595.1	ENSP00000335660	Q3LHN2		UPI00001A9E55	NM_181608.1	deleterious_low_confidence(0)		1/1																			MODERATE	1	SNV				1										PASS		.	.												C	3	2	29	30487196	30487196	G	C	1	0	0	0	0	1	0	0	0	8413	933	33	4		4	KRTAP19-2	21	30487196	Missense_Mutation	SNP	G	C3L-01924_TP	138703	30487196	16222787	602	8917											
KRTAP19-5	0	.	GRCh38	chr21	30502000	30502000	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcccagtctgcggaagcTgccacatccacagccatagc	11	6	9	15	1	1	0	0	0	1	0	2	1	2	1	4	1	6	1	4	1	3	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.91A>G	p.Ser31Gly	p.S31G	ENST00000334151	1/1	436	390	46	413	412	1	strelka-varscan-mutect	KRTAP19-5,missense_variant,p.Ser31Gly,ENST00000334151,NM_181611.1;KRTAP19-4,upstream_gene_variant,,ENST00000334058,NM_181610.1;	C	ENST00000334151	Transcript	missense_variant	118/461	91/219	31/72	S/G	Agc/Ggc		1		-1	KRTAP19-5	HGNC	HGNC:18940	protein_coding	YES	CCDS13597.1	ENSP00000334985	Q3LI72		UPI00001A9E50	NM_181611.1	tolerated_low_confidence(0.17)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR38140:SF4,hmmpanther:PTHR38140,Pfam_domain:PF11759																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	29	30502000	30502000	T	C	1	0	0	0	0	1	0	0	0	8416	1580	55	5		5	KRTAP19-5	21	30502000	Missense_Mutation	SNP	T	C3L-01924_TP	14804	30502000	16207983	603	8918											
URB1	0	.	GRCh38	chr21	32361909	32361909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgcactggtgagcatcgCaggcagccgggggcccatcg	7	5	15	14	4	0	1	0	1	0	0	2	1	0	1	3	4	3	4	3	4	1	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1622G>T	p.Cys541Phe	p.C541F	ENST00000382751	12/39	163	122	41	139	139	0	strelka-varscan-mutect	URB1,missense_variant,p.Cys541Phe,ENST00000382751,NM_014825.2;	A	ENST00000382751	Transcript	missense_variant	1738/10832	1622/6816	541/2271	C/F	tGc/tTc		1		-1	URB1	HGNC	HGNC:17344	protein_coding	YES	CCDS46645.1	ENSP00000372199	O60287		UPI0000185F65	NM_014825.2	tolerated(0.07)		12/39		hmmpanther:PTHR13500																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	32361909	32361909	C	A	1	0	0	0	0	1	0	0	0	17554	710	25	2		2	URB1	21	32361909	Missense_Mutation	SNP	C	C3L-01924_TP	1859909	32361909	14348074	604	8919											
RCAN1	0	.	GRCh38	chr21	34518210	34518210	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcacatacatggaccacCacgctgggagtggtgtcagt	9	9	11	12	1	2	0	2	0	1	0	3	2	2	2	2	3	1	1	2	3	1	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.708G>T	p.=	p.V236V	ENST00000381135	4/4	206	155	51	168	168	0	strelka-varscan-mutect	RCAN1,synonymous_variant,p.=,ENST00000481448,;RCAN1,synonymous_variant,p.=,ENST00000482533,;RCAN1,synonymous_variant,p.=,ENST00000381135,NM_001285391.2;RCAN1,synonymous_variant,p.=,ENST00000487990,;RCAN1,synonymous_variant,p.=,ENST00000313806,NM_004414.6;RCAN1,synonymous_variant,p.=,ENST00000381132,NM_203418.2;RCAN1,synonymous_variant,p.=,ENST00000443408,NM_203417.2;RCAN1,synonymous_variant,p.=,ENST00000620920,NM_001285392.2,NM_001285393.2;RCAN1,synonymous_variant,p.=,ENST00000399272,NM_001285389.2;RCAN1,downstream_gene_variant,,ENST00000492600,;RCAN1,non_coding_transcript_exon_variant,,ENST00000489903,;RCAN1,intron_variant,,ENST00000487434,;RCAN1,downstream_gene_variant,,ENST00000609325,;	A	ENST00000381135	Transcript	synonymous_variant	761/2526	708/834	236/277	V	gtG/gtT		1		-1	RCAN1	HGNC	HGNC:3040	protein_coding	YES	CCDS74788.1	ENSP00000370527		E9PDJ2	UPI0003C35586	NM_001285391.2			4/4		Pfam_domain:PF04847,hmmpanther:PTHR10300,hmmpanther:PTHR10300:SF4																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	29	34518210	34518210	C	A	1	0	0	0	0	0	0	0	1	13337	581	21	2		2	RCAN1	21	34518210	Silent	SNP	C	C3L-01924_TP	2156301	34518210	12191773	605	8920											
RUNX1	0	.	GRCh38	chr21	34792539	34792539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgcctggatagtgcaTgcgggggtcggagatggagg	8	6	21	6	3	0	1	0	0	0	1	1	5	0	3	1	7	2	1	1	7	2	1	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.1039A>G	p.Met347Val	p.M347V	ENST00000300305	8/8	149	114	35	174	174	0	strelka-varscan-mutect	RUNX1,missense_variant,p.Met320Val,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Met347Val,ENST00000300305,;RUNX1,missense_variant,p.Met347Val,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Met256Val,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;	C	ENST00000300305	Transcript	missense_variant	1484/6222	1039/1443	347/480	M/V	Atg/Gtg		1		-1	RUNX1	HGNC	HGNC:10471	protein_coding	YES	CCDS13639.1	ENSP00000300305	Q01196		UPI000015FE6A		tolerated(0.11)		8/8		Gene3D:1b8xA03,PIRSF_domain:PIRSF009374,hmmpanther:PTHR11950																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	34792539	34792539	T	C	1	0	0	0	0	1	0	0	0	14007	1464	51	5		5	RUNX1	21	34792539	Missense_Mutation	SNP	T	C3L-01924_TP	274329	34792539	11917444	606	8921											
TMPRSS2	0	.	GRCh38	chr21	41480507	41480507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctgcaggccgcccgccCgtagttctcgttccagtcgt	3	10	11	17	5	1	0	0	0	1	0	5	0	3	0	5	1	1	4	5	1	1	3	rs781089181		C3L-01924_TP	C3L-01924_NB	C	C																c.652G>A	p.Gly218Arg	p.G218R	ENST00000398585	6/14	268	216	52	252	252	0	strelka-varscan-mutect	TMPRSS2,missense_variant,p.Gly218Arg,ENST00000398585,NM_001135099.1;TMPRSS2,missense_variant,p.Gly181Arg,ENST00000332149,NM_005656.3;TMPRSS2,missense_variant,p.Gly181Arg,ENST00000454499,;TMPRSS2,missense_variant,p.Gly181Arg,ENST00000458356,;TMPRSS2,missense_variant,p.Gly141Arg,ENST00000424093,;	T	ENST00000398585	Transcript	missense_variant	713/3240	652/1590	218/529	G/R	Ggg/Agg	rs781089181	1		-1	TMPRSS2	HGNC	HGNC:11876	protein_coding	YES	CCDS54486.1	ENSP00000381588	O15393		UPI00019D3EE0	NM_001135099.1	deleterious(0)		6/14		PROSITE_profiles:PS50287,hmmpanther:PTHR24256:SF94,hmmpanther:PTHR24256,Gene3D:3.10.250.10,Pfam_domain:PF15494,SMART_domains:SM00202,Superfamily_domains:SSF56487																	MODERATE	1	SNV	2			1										PASS		rs781089181	.												T	3	4	29	41480507	41480507	C	T	1	0	0	0	0	1	0	0	0	16723	652	23	1		1	TMPRSS2	21	41480507	Missense_Mutation	SNP	C	C3L-01924_TP	6687968	41480507	5229476	607	8922											
TRPM2	0	.	GRCh38	chr21	44423733	44423733	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcctccctggaggagcagGtgggtccgaggtcggggcct	4	7	19	11	2	0	0	0	0	0	0	3	3	2	2	4	8	1	1	4	8	0	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.3549+1G>A		p.X1183_splice	ENST00000397928		175	164	11	163	163	0	strelka-varscan-mutect	TRPM2,splice_donor_variant,,ENST00000397928,NM_003307.3;TRPM2,splice_donor_variant,,ENST00000300482,;TRPM2,splice_donor_variant,,ENST00000300481,;TRPM2,splice_donor_variant,,ENST00000397932,;TRPM2,upstream_gene_variant,,ENST00000621064,;TRPM2-AS,intron_variant,,ENST00000423310,;TRPM2,splice_donor_variant,,ENST00000498430,;TRPM2,upstream_gene_variant,,ENST00000490982,;	A	ENST00000397928	Transcript	splice_donor_variant	-/6221	3549/4512	1183/1503				1		1	TRPM2	HGNC	HGNC:12339	protein_coding	YES	CCDS13710.1	ENSP00000381023	O94759		UPI0000169D60	NM_003307.3				23/31																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	29	44423733	44423733	G	A	1	0	0	0	0	0	0	1	0	17092	1275	44	3		3	TRPM2	21	44423733	Splice_Site	SNP	G	C3L-01924_TP	2943226	44423733	2286250	608	8923											
SLC19A1	0	.	GRCh38	chr21	45531886	45531886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgagtagccggccacaCgctggtagcgcgcgggccgc	5	3	17	16	9	0	0	0	0	0	0	0	1	0	0	3	3	2	3	3	3	2	2	rs754075330		C3L-01924_TP	C3L-01924_NB	C	C																c.452G>T	p.Arg151Leu	p.R151L	ENST00000311124	3/6	178	129	49	194	194	0	strelka-varscan-mutect	SLC19A1,missense_variant,p.Arg151Leu,ENST00000311124,NM_194255.2;SLC19A1,missense_variant,p.Arg151Leu,ENST00000567670,;SLC19A1,missense_variant,p.Arg111Leu,ENST00000485649,NM_001205207.1;SLC19A1,missense_variant,p.Arg151Leu,ENST00000380010,NM_001205206.1;SLC19A1,missense_variant,p.Arg151Leu,ENST00000443742,;SLC19A1,missense_variant,p.Arg151Leu,ENST00000427839,;SLC19A1,upstream_gene_variant,,ENST00000417954,;SLC19A1,downstream_gene_variant,,ENST00000486303,;	A	ENST00000311124	Transcript	missense_variant	605/3811	452/1776	151/591	R/L	cGt/cTt	rs754075330	1		-1	SLC19A1	HGNC	HGNC:10937	protein_coding	YES	CCDS13725.1	ENSP00000308895	P41440		UPI000012AA0F	NM_194255.2	deleterious(0)		3/6		Gene3D:1.20.1250.20,Pfam_domain:PF01770,PIRSF_domain:PIRSF028739,PIRSF_domain:PIRSF500793,hmmpanther:PTHR10686,hmmpanther:PTHR10686:SF12,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00806																	MODERATE	1	SNV	1			1										PASS		rs754075330	.												A	3	1	29	45531886	45531886	C	A	1	0	0	0	0	1	0	0	0	14694	536	19	1		1	SLC19A1	21	45531886	Missense_Mutation	SNP	C	C3L-01924_TP	1108153	45531886	1178097	609	8924											
COL6A1	0	.	GRCh38	chr21	45990256	45990256	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgcttcctgtctccgcAgggctccaggggacccaagg	6	6	12	17	2	1	0	0	0	1	0	4	1	3	1	5	4	0	3	5	4	1	1	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.931-2A>T		p.X311_splice	ENST00000361866		339	263	76	287	287	0	strelka-varscan-mutect	COL6A1,splice_acceptor_variant,,ENST00000361866,NM_001848.2;COL6A1,splice_acceptor_variant,,ENST00000612273,;COL6A1,downstream_gene_variant,,ENST00000492851,;	T	ENST00000361866	Transcript	splice_acceptor_variant	-/4238	931/3087	311/1028				1		1	COL6A1	HGNC	HGNC:2211	protein_coding	YES	CCDS13727.1	ENSP00000355180	P12109		UPI000019B179	NM_001848.2				11/34																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	29	45990256	45990256	A	T	1	0	0	0	0	0	0	1	0	3488	202	7	4		4	COL6A1	21	45990256	Splice_Site	SNP	A	C3L-01924_TP	458370	45990256	719727	610	8925											
COL6A2	0	.	GRCh38	chr21	46132039	46132039	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggctgggtgagcagaacttCcacaaggcccggcgcttcgt	7	7	14	13	4	0	2	0	1	0	1	2	2	1	2	2	4	2	3	2	4	2	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2547C>A	p.Phe849Leu	p.F849L	ENST00000300527	28/28	418	318	100	405	403	2	strelka-varscan-mutect	COL6A2,missense_variant,p.Phe849Leu,ENST00000300527,NM_001849.3;COL6A2,downstream_gene_variant,,ENST00000310645,NM_058175.2;COL6A2,downstream_gene_variant,,ENST00000409416,;COL6A2,downstream_gene_variant,,ENST00000397763,NM_058174.2;FTCD,downstream_gene_variant,,ENST00000397748,NM_001320412.1;FTCD,downstream_gene_variant,,ENST00000291670,NM_006657.2;FTCD,downstream_gene_variant,,ENST00000397746,NM_206965.1;FTCD,downstream_gene_variant,,ENST00000397743,;FTCD,downstream_gene_variant,,ENST00000446405,;FTCD,downstream_gene_variant,,ENST00000498355,;FTCD,downstream_gene_variant,,ENST00000460011,;FTCD,downstream_gene_variant,,ENST00000483568,;	A	ENST00000300527	Transcript	missense_variant	2651/3461	2547/3060	849/1019	F/L	ttC/ttA		1		1	COL6A2	HGNC	HGNC:2212	protein_coding	YES	CCDS13728.1	ENSP00000300527	P12110		UPI00001AECE0	NM_001849.3	tolerated(0.06)		28/28		PROSITE_profiles:PS50234,hmmpanther:PTHR24023:SF119,hmmpanther:PTHR24023,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		rs1169525618	.												A	3	1	29	46132039	46132039	C	A	1	0	0	0	0	1	0	0	0	3489	854	30	2		2	COL6A2	21	46132039	Missense_Mutation	SNP	C	C3L-01924_TP	141783	46132039	577944	611	8926											
S100B	0	.	GRCh38	chr21	46599396	46599396	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaactcgtggcaggcagtAgtaaccatggcaacaaaggc	15	5	12	9	1	0	1	0	0	0	1	1	1	0	1	1	4	3	5	1	4	6	2	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.246T>A	p.=	p.T82T	ENST00000291700	3/3	268	183	85	263	263	0	strelka-varscan-mutect	S100B,synonymous_variant,p.=,ENST00000291700,NM_006272.2;S100B,synonymous_variant,p.=,ENST00000397648,;S100B,3_prime_UTR_variant,,ENST00000367071,;	T	ENST00000291700	Transcript	synonymous_variant	443/877	246/279	82/92	T	acT/acA		1		-1	S100B	HGNC	HGNC:10500	protein_coding	YES	CCDS13736.1	ENSP00000291700	P04271	A0A0S2Z4C5	UPI0000000D5F	NM_006272.2			3/3		PROSITE_profiles:PS50222,hmmpanther:PTHR11639:SF17,hmmpanther:PTHR11639,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	46599396	46599396	A	T	1	0	0	0	0	0	0	0	1	14047	407	15	4		4	S100B	21	46599396	Silent	SNP	A	C3L-01924_TP	467357	46599396	110587	612	8927											
SLC25A1	0	.	GRCh38	chr22	19177777	19177777	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacggcctcggccacgccagCgcccaggccgcacagcagcc	7	1	12	21	5	0	0	0	0	0	0	1	0	0	0	6	3	3	2	6	3	0	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.391G>T	p.Ala131Ser	p.A131S	ENST00000215882	4/9	488	438	50	311	311	0	strelka-varscan-mutect	SLC25A1,missense_variant,p.Ala131Ser,ENST00000215882,NM_001256534.1,NM_005984.4;SLC25A1,missense_variant,p.Ala28Ser,ENST00000451283,NM_001287387.1;CLTCL1,downstream_gene_variant,,ENST00000427926,NM_007098.3;CLTCL1,downstream_gene_variant,,ENST00000621271,NM_001835.3;CLTCL1,downstream_gene_variant,,ENST00000622493,;CLTCL1,downstream_gene_variant,,ENST00000617926,;LINC01311,downstream_gene_variant,,ENST00000565162,;SLC25A1,non_coding_transcript_exon_variant,,ENST00000461267,;SLC25A1,downstream_gene_variant,,ENST00000468824,;SLC25A1,non_coding_transcript_exon_variant,,ENST00000470922,;CLTCL1,downstream_gene_variant,,ENST00000615606,;CLTCL1,downstream_gene_variant,,ENST00000617103,;CLTCL1,downstream_gene_variant,,ENST00000412649,;	A	ENST00000215882	Transcript	missense_variant	548/1648	391/936	131/311	A/S	Gct/Tct		1		-1	SLC25A1	HGNC	HGNC:10979	protein_coding	YES	CCDS13758.1	ENSP00000215882	P53007		UPI0000137851	NM_001256534.1,NM_005984.4	deleterious(0.02)		4/9		Low_complexity_(Seg):seg,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF379,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	19177777	19177777	C	A	1	0	0	0	0	1	0	0	0	14736	768	27	1		1	SLC25A1	22	19177777	Missense_Mutation	SNP	C	C3L-01924_TP		19177777	31640691	613	8928											
CDC45	0	.	GRCh38	chr22	19516560	19516560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgcaaactgctgcccctgGtgatggctgcccccctgagc	5	8	12	16	0	0	2	0	2	0	0	0	2	0	2	5	2	6	4	5	2	1	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1570G>T	p.Val524Leu	p.V524L	ENST00000437685	17/20	284	248	36	180	180	0	strelka-varscan-mutect	CDC45,missense_variant,p.Val492Leu,ENST00000407835,;CDC45,missense_variant,p.Val524Leu,ENST00000437685,NM_001178010.2;CDC45,missense_variant,p.Val492Leu,ENST00000263201,NM_003504.4;CDC45,missense_variant,p.Val446Leu,ENST00000404724,NM_001178011.2;CDC45,non_coding_transcript_exon_variant,,ENST00000493724,;CDC45,downstream_gene_variant,,ENST00000471470,;	T	ENST00000437685	Transcript	missense_variant	1713/2072	1570/1797	524/598	V/L	Gtg/Ttg		1		1	CDC45	HGNC	HGNC:1739	protein_coding	YES	CCDS54499.1	ENSP00000405726	O75419		UPI000042153E	NM_001178010.2	tolerated(0.08)		17/20		Pfam_domain:PF02724,hmmpanther:PTHR10507,hmmpanther:PTHR10507:SF0																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	29	19516560	19516560	G	T	1	0	0	0	0	1	0	0	0	2784	1261	44	2		2	CDC45	22	19516560	Missense_Mutation	SNP	G	C3L-01924_TP	338783	19516560	31301908	614	8929											
MORC2	0	.	GRCh38	chr22	30941503	30941503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggatgaagatcctcatccGgggatcaatatagagcacag	14	8	11	8	1	2	3	2	1	0	2	4	5	4	5	2	3	1	1	2	3	4	2	rs864309503		C3L-01924_TP	C3L-01924_NB	G	G																c.754C>T	p.Arg252Trp	p.R252W	ENST00000397641	9/26	139	131	8	140	140	0	strelka-varscan-mutect	MORC2,missense_variant,p.Arg252Trp,ENST00000397641,NM_001303257.1,NM_001303256.1;MORC2,missense_variant,p.Arg190Trp,ENST00000215862,NM_014941.2;MORC2,non_coding_transcript_exon_variant,,ENST00000469915,;MORC2,downstream_gene_variant,,ENST00000476152,;	A	ENST00000397641	Transcript	missense_variant	1163/5181	754/3099	252/1032	R/W	Cgg/Tgg	rs864309503,COSM5511209,COSM5511210	1		-1	MORC2	HGNC	HGNC:23573	protein_coding	YES	CCDS77668.1	ENSP00000380763	Q9Y6X9		UPI000041AB7E	NM_001303257.1,NM_001303256.1	tolerated(0.1)		9/26		hmmpanther:PTHR23337:SF7,hmmpanther:PTHR23337,Superfamily_domains:SSF55874										pathogenic	0,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		rs864309503	.												A	3	1	29	30941503	30941503	G	A	1	0	0	0	0	1	0	0	0	9666	1115	39	1		1	MORC2	22	30941503	Missense_Mutation	SNP	G	C3L-01924_TP	11424943	30941503	19876965	615	8930											
INPP5J	0	.	GRCh38	chr22	31128497	31128497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacggaagccagcttggaCagaccgtatcctatggaagg	13	6	13	9	2	0	1	0	0	0	1	1	5	1	4	3	4	3	2	3	4	5	3	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2036C>T	p.Thr679Ile	p.T679I	ENST00000331075	9/13	240	217	23	250	250	0	strelka-varscan-mutect	INPP5J,missense_variant,p.Thr612Ile,ENST00000412277,NM_001284286.1;INPP5J,missense_variant,p.Thr679Ile,ENST00000331075,NM_001284285.1;INPP5J,missense_variant,p.Thr312Ile,ENST00000405300,NM_001284289.1;INPP5J,missense_variant,p.Thr312Ile,ENST00000400294,NM_001284288.1;INPP5J,missense_variant,p.Thr244Ile,ENST00000620191,NM_001284287.1;INPP5J,missense_variant,p.Thr311Ile,ENST00000404390,NM_001002837.2;INPP5J,missense_variant,p.Thr44Ile,ENST00000401755,;INPP5J,missense_variant,p.Thr44Ile,ENST00000404453,;INPP5J,missense_variant,p.Thr44Ile,ENST00000402238,;INPP5J,downstream_gene_variant,,ENST00000412985,;INPP5J,downstream_gene_variant,,ENST00000420017,;INPP5J,downstream_gene_variant,,ENST00000463528,;INPP5J,non_coding_transcript_exon_variant,,ENST00000461241,;	T	ENST00000331075	Transcript	missense_variant	2085/3347	2036/3021	679/1006	T/I	aCa/aTa		1		1	INPP5J	HGNC	HGNC:8956	protein_coding	YES	CCDS63453.1	ENSP00000333262	Q15735		UPI000004CB11	NM_001284285.1	deleterious(0)		9/13		hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF127,Pfam_domain:PF03372,Gene3D:3.60.10.10,SMART_domains:SM00128,Superfamily_domains:SSF56219																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	29	31128497	31128497	C	T	1	0	0	0	0	1	0	0	0	7662	478	17	3		3	INPP5J	22	31128497	Missense_Mutation	SNP	C	C3L-01924_TP	186994	31128497	19689971	616	8931											
SSTR3	0	.	GRCh38	chr22	37206722	37206722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccttgcccccctccctgCtctcctccccatcctcctcc	1	11	2	27	0	1	0	0	0	1	0	8	0	7	0	12	0	2	1	12	0	0	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1082G>T	p.Ser361Ile	p.S361I	ENST00000610913	2/2	151	136	15	177	177	0	strelka-varscan-mutect	SSTR3,missense_variant,p.Ser361Ile,ENST00000610913,NM_001051.4;SSTR3,missense_variant,p.Ser361Ile,ENST00000617123,NM_001278687.2;	A	ENST00000610913	Transcript	missense_variant	1616/4100	1082/1257	361/418	S/I	aGc/aTc		1		-1	SSTR3	HGNC	HGNC:11332	protein_coding	YES	CCDS13944.1	ENSP00000480971	P32745		UPI0000050435	NM_001051.4	tolerated(0.17)		2/2		hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF42,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	37206722	37206722	C	A	1	0	0	0	0	1	0	0	0	15576	797	28	2		2	SSTR3	22	37206722	Missense_Mutation	SNP	C	C3L-01924_TP	6078225	37206722	13611746	617	8932											
SGSM3	0	.	GRCh38	chr22	40407282	40407282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgggaagccatcctgcGcgtggcacgccacttccagt	6	7	11	17	4	0	0	0	0	0	0	3	1	3	1	6	2	2	1	6	2	1	1	rs371516999		C3L-01924_TP	C3L-01924_NB	G	G																c.1322G>T	p.Arg441Leu	p.R441L	ENST00000248929	12/22	213	192	21	223	222	1	strelka-varscan-mutect	SGSM3,missense_variant,p.Arg441Leu,ENST00000248929,NM_015705.5,NM_001301849.1;MKL1,downstream_gene_variant,,ENST00000396617,NM_001282662.1;MKL1,downstream_gene_variant,,ENST00000355630,NM_020831.4;MKL1,downstream_gene_variant,,ENST00000402042,NM_001282661.1;MKL1,downstream_gene_variant,,ENST00000618196,NM_001318139.1;MKL1,downstream_gene_variant,,ENST00000407029,NM_001282660.1;MKL1,downstream_gene_variant,,ENST00000614754,;MKL1,downstream_gene_variant,,ENST00000620651,;MKL1,downstream_gene_variant,,ENST00000618417,;SGSM3,downstream_gene_variant,,ENST00000457767,;SGSM3,upstream_gene_variant,,ENST00000427834,;SGSM3,upstream_gene_variant,,ENST00000417424,;SGSM3,non_coding_transcript_exon_variant,,ENST00000478085,;SGSM3,non_coding_transcript_exon_variant,,ENST00000485962,;SGSM3,non_coding_transcript_exon_variant,,ENST00000480830,;SGSM3,non_coding_transcript_exon_variant,,ENST00000481408,;SGSM3,non_coding_transcript_exon_variant,,ENST00000470518,;SGSM3,non_coding_transcript_exon_variant,,ENST00000481028,;SGSM3,upstream_gene_variant,,ENST00000469719,;SGSM3,upstream_gene_variant,,ENST00000462457,;SGSM3,upstream_gene_variant,,ENST00000467915,;MKL1,downstream_gene_variant,,ENST00000477468,;	T	ENST00000248929	Transcript	missense_variant	1511/2969	1322/2250	441/749	R/L	cGc/cTc	rs371516999,COSM1632617	1		1	SGSM3	HGNC	HGNC:25228	protein_coding	YES	CCDS14002.1	ENSP00000248929	Q96HU1	B9A6J5	UPI0000035D8C	NM_015705.5,NM_001301849.1	tolerated(0.31)		12/22		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF296											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs371516999	.												T	3	4	29	40407282	40407282	G	T	1	0	0	0	0	1	0	0	0	14482	1087	38	1		1	SGSM3	22	40407282	Missense_Mutation	SNP	G	C3L-01924_TP	3200560	40407282	10411186	618	8933											
RANGAP1	0	.	GRCh38	chr22	41254409	41254409	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctcctcctcttcttcctCctcttcctcatcttcctcct	1	18	0	22	0	5	0	1	0	4	0	13	0	13	0	8	0	0	0	8	0	0	4	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1159G>T	p.Glu387Ter	p.E387*	ENST00000455915	10/15	147	132	15	192	192	0	strelka-varscan-mutect	RANGAP1,stop_gained,p.Glu387Ter,ENST00000455915,;RANGAP1,stop_gained,p.Glu387Ter,ENST00000405486,NM_001278651.1;RANGAP1,stop_gained,p.Glu387Ter,ENST00000356244,NM_002883.3;RANGAP1,downstream_gene_variant,,ENST00000446258,;MIR6889,upstream_gene_variant,,ENST00000613185,;	A	ENST00000455915	Transcript	stop_gained	2629/4222	1159/1764	387/587	E/*	Gag/Tag		1		-1	RANGAP1	HGNC	HGNC:9854	protein_coding	YES	CCDS14012.1	ENSP00000401470	P46060	A0A024R1U0	UPI0000000DD9				10/15		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24113,hmmpanther:PTHR24113:SF5,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		rs1441490195	.												A	4	1	29	41254409	41254409	C	A	1	0	0	0	0	0	1	0	0	13192	864	30	2		2	RANGAP1	22	41254409	Nonsense_Mutation	SNP	C	C3L-01924_TP	847127	41254409	9564059	619	8934											
ASMTL	0	.	GRCh38	chrX	1435053	1435053	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggacgatcgcgacaccTgtgaacacgctgtgttctct	8	10	11	12	4	1	1	0	1	1	0	3	4	1	2	1	1	1	2	1	1	1	1	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.369A>T	p.=	p.T123T	ENST00000381317	5/13	262	191	71	336	336	0	strelka-varscan-mutect	ASMTL,synonymous_variant,p.=,ENST00000534940,NM_001173473.1;ASMTL,synonymous_variant,p.=,ENST00000381333,NM_001173474.1;ASMTL,synonymous_variant,p.=,ENST00000381317,NM_004192.3;ASMTL,non_coding_transcript_exon_variant,,ENST00000463763,;ASMTL,non_coding_transcript_exon_variant,,ENST00000462195,;	A	ENST00000381317	Transcript	synonymous_variant	402/2027	369/1866	123/621	T	acA/acT		1		-1	ASMTL	HGNC	HGNC:751	protein_coding	YES	CCDS43917.1	ENSP00000370718	O95671		UPI0000141AF9	NM_004192.3			5/13		Gene3D:3.90.950.10,HAMAP:MF_00528,Pfam_domain:PF02545,Superfamily_domains:SSF52972,TIGRFAM_domain:TIGR00172																	LOW	1	SNV	1			1										PASS		rs1387308138	.												A	2	1	29	1435053	1435053	T	A	1	0	0	0	0	0	0	0	1	1193	1567	55	4		4	ASMTL	23	1435053	Silent	SNP	T	C3L-01924_TP		1435053	154605842	620	8935											
MXRA5	0	.	GRCh38	chrX	3317554	3317554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gataacggggggcagtgccgCcacgtgcaggcggatggcca	8	4	18	11	4	0	0	0	0	0	0	0	2	0	1	3	6	3	2	3	6	1	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.6127G>T	p.Ala2043Ser	p.A2043S	ENST00000217939	6/7	152	111	41	194	194	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Ala2043Ser,ENST00000217939,NM_015419.3;	A	ENST00000217939	Transcript	missense_variant	6282/9793	6127/8487	2043/2828	A/S	Gcg/Tcg		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	deleterious(0.03)		6/7		hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	3317554	3317554	C	A	1	0	0	0	0	1	0	0	0	10002	739	26	2		2	MXRA5	23	3317554	Missense_Mutation	SNP	C	C3L-01924_TP	1882501	3317554	152723341	621	8936											
MXRA5	0	.	GRCh38	chrX	3330364	3330364	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagagagaccctggagggtCtgtcctgtgatcactctcag	8	11	12	10	0	3	3	2	1	2	2	5	5	4	4	2	2	0	0	2	2	1	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.363G>T	p.Gln121His	p.Q121H	ENST00000217939	4/7	101	94	7	171	171	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Gln121His,ENST00000217939,NM_015419.3;	A	ENST00000217939	Transcript	missense_variant	518/9793	363/8487	121/2828	Q/H	caG/caT		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	tolerated(0.12)		4/7		Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	29	3330364	3330364	C	A	1	0	0	0	0	1	0	0	0	10002	912	32	2		2	MXRA5	23	3330364	Missense_Mutation	SNP	C	C3L-01924_TP	12810	3330364	152710531	622	8937											
NLGN4X	0	.	GRCh38	chrX	5903265	5903265	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcagtgatgatagaaGgcatagaagtaggtggggga	12	9	17	3	0	0	4	0	2	0	2	0	5	0	5	0	5	0	3	0	5	5	4	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1413C>A	p.=	p.A471A	ENST00000381095	5/6	396	375	21	518	518	0	varscan-mutect	NLGN4X,synonymous_variant,p.=,ENST00000381095,NM_181332.2,NM_001282145.1;NLGN4X,synonymous_variant,p.=,ENST00000381093,NM_001282146.1;NLGN4X,synonymous_variant,p.=,ENST00000275857,NM_020742.3;NLGN4X,synonymous_variant,p.=,ENST00000381092,;NLGN4X,synonymous_variant,p.=,ENST00000538097,;NLGN4X,non_coding_transcript_exon_variant,,ENST00000477079,;	T	ENST00000381095	Transcript	synonymous_variant	2041/5870	1413/2451	471/816	A	gcC/gcA		1		-1	NLGN4X	HGNC	HGNC:14287	protein_coding	YES	CCDS14126.1	ENSP00000370485	Q8N0W4	A0A024RBV0	UPI0000072EC5	NM_181332.2,NM_001282145.1			5/6		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF260,Superfamily_domains:SSF53474																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	5903265	5903265	G	T	1	0	0	0	0	0	0	0	1	10501	987	35	2		2	NLGN4X	23	5903265	Silent	SNP	G	C3L-01924_TP	2572901	5903265	150137630	623	8938											
CLDN34	0	.	GRCh38	chrX	9967540	9967540	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttagagtctgcatttaccgGcgtcgcaccaacagcaccac	10	9	8	14	3	1	1	0	0	1	1	2	1	1	1	3	1	4	3	3	1	3	4	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.183G>T	p.=	p.R61R	ENST00000445307	1/1	219	206	13	273	272	1	strelka-mutect	CLDN34,synonymous_variant,p.=,ENST00000445307,NM_001195081.1;	T	ENST00000445307	Transcript	synonymous_variant	183/995	183/645	61/214	R	cgG/cgT		1		1	CLDN34	HGNC	HGNC:51259	protein_coding	YES	CCDS75951.1	ENSP00000403980	H7C241		UPI0001A5E8EC	NM_001195081.1			1/1		hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF4																	LOW	1	SNV				1										PASS		.	.												T	2	4	29	9967540	9967540	G	T	1	0	0	0	0	0	0	0	1	3252	1190	42	2		2	CLDN34	23	9967540	Silent	SNP	G	C3L-01924_TP	4064275	9967540	146073355	624	8939											
CLCN4	0	.	GRCh38	chrX	10208309	10208309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggctggggaagtacccgGtgctggaggtcattgtggtg	6	9	18	8	1	1	0	1	0	0	0	1	2	1	2	2	7	2	3	2	7	2	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1108G>T	p.Val370Leu	p.V370L	ENST00000380833	9/13	135	102	33	210	210	0	strelka-varscan-mutect	CLCN4,missense_variant,p.Val370Leu,ENST00000380833,NM_001830.3;CLCN4,missense_variant,p.Val276Leu,ENST00000421085,NM_001256944.1;CLCN4,missense_variant,p.Val339Leu,ENST00000380829,;CLCN4,downstream_gene_variant,,ENST00000454850,;	T	ENST00000380833	Transcript	missense_variant	1499/6750	1108/2283	370/760	V/L	Gtg/Ttg		1		1	CLCN4	HGNC	HGNC:2022	protein_coding	YES	CCDS14137.1	ENSP00000370213	P51793		UPI0000127A99	NM_001830.3	deleterious(0.04)		9/13		Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF18,Superfamily_domains:SSF81340,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	10208309	10208309	G	T	1	0	0	0	0	1	0	0	0	3229	1261	44	2		2	CLCN4	23	10208309	Missense_Mutation	SNP	G	C3L-01924_TP	240769	10208309	145832586	625	8940											
TLR7	0	.	GRCh38	chrX	12886457	12886457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagaacatcaacaaactcCaggaactggatctgtcccaa	16	8	6	11	0	2	1	1	0	1	1	4	3	4	3	2	2	4	0	2	2	6	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.949C>A	p.Gln317Lys	p.Q317K	ENST00000380659	3/3	188	136	52	281	281	0	strelka-varscan-mutect	TLR7,missense_variant,p.Gln317Lys,ENST00000380659,NM_016562.3;	A	ENST00000380659	Transcript	missense_variant	1088/5011	949/3150	317/1049	Q/K	Cag/Aag		1		1	TLR7	HGNC	HGNC:15631	protein_coding	YES	CCDS14151.1	ENSP00000370034	Q9NYK1	B2R9N9	UPI000004BAF6	NM_016562.3	tolerated(1)		3/3		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF222,SMART_domains:SM00365,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	12886457	12886457	C	A	1	0	0	0	0	1	0	0	0	16402	595	21	2		2	TLR7	23	12886457	Missense_Mutation	SNP	C	C3L-01924_TP	2678148	12886457	143154438	626	8941											
TLR7	0	.	GRCh38	chrX	12887757	12887757	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acaagatgccttccagttgcGatatctggatctcagctcaa	11	11	8	11	1	3	1	2	0	2	1	5	3	4	2	2	1	3	2	2	1	3	3	rs765513485		C3L-01924_TP	C3L-01924_NB	G	G																c.2249G>C	p.Arg750Pro	p.R750P	ENST00000380659	3/3	130	116	14	180	180	0	strelka-varscan-mutect	TLR7,missense_variant,p.Arg750Pro,ENST00000380659,NM_016562.3;	C	ENST00000380659	Transcript	missense_variant	2388/5011	2249/3150	750/1049	R/P	cGa/cCa	rs765513485	1		1	TLR7	HGNC	HGNC:15631	protein_coding	YES	CCDS14151.1	ENSP00000370034	Q9NYK1	B2R9N9	UPI000004BAF6	NM_016562.3	tolerated(0.18)		3/3		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF222,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs765513485	.												C	3	2	29	12887757	12887757	G	C	1	0	0	0	0	1	0	0	0	16402	1058	37	4		4	TLR7	23	12887757	Missense_Mutation	SNP	G	C3L-01924_TP	1300	12887757	143153138	627	8942											
RAI2	0	.	GRCh38	chrX	17801645	17801645	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctccagcaccacgggCagttgcacggggccctgggt	5	7	15	14	2	0	0	0	0	0	0	1	0	1	0	3	4	4	6	3	4	0	1	rs537190832		C3L-01924_TP	C3L-01924_NB	C	C																c.366G>T	p.=	p.L122L	ENST00000545871	3/3	156	147	9	187	186	1	strelka-mutect	RAI2,synonymous_variant,p.=,ENST00000545871,NM_001172739.1,NM_001172743.1;RAI2,synonymous_variant,p.=,ENST00000360011,;RAI2,synonymous_variant,p.=,ENST00000331511,;RAI2,synonymous_variant,p.=,ENST00000451717,NM_021785.4;RAI2,synonymous_variant,p.=,ENST00000415486,NM_001172732.1;RAI2,downstream_gene_variant,,ENST00000509491,;	A	ENST00000545871	Transcript	synonymous_variant	827/2421	366/1593	122/530	L	ctG/ctT	rs537190832	1		-1	RAI2	HGNC	HGNC:9835	protein_coding	YES	CCDS14183.1	ENSP00000444210	Q9Y5P3		UPI000013CE19	NM_001172739.1,NM_001172743.1			3/3		hmmpanther:PTHR23186:SF3,hmmpanther:PTHR23186,Pfam_domain:PF15279																	LOW	1	SNV	4			1										PASS		rs537190832	.												A	2	1	29	17801645	17801645	C	A	1	0	0	0	0	0	0	0	1	13168	697	25	2		2	RAI2	23	17801645	Silent	SNP	C	C3L-01924_TP	4913888	17801645	138239250	628	8943											
MAGEB6P1	0	.	GRCh38	chrX	26161014	26161014	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagaaaagtccaagcacCtcccgtgatgcctctgttcc	11	9	8	13	1	1	2	0	2	1	1	4	3	4	2	5	0	2	2	5	0	4	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.414C>A	p.=	p.T138T	ENST00000416929	1/1	268	240	28	316	315	1	strelka-varscan-mutect	MAGEB6P1,synonymous_variant,p.=,ENST00000416929,;	A	ENST00000416929	Transcript	synonymous_variant	414/1224	414/1224	138/407	T	acC/acA		1		1	MAGEB6P1	HGNC	HGNC:28824	protein_coding	YES		ENSP00000488257		A0A0J9YX57	UPI0000237759				1/1		Pfam_domain:PF12440,SMART_domains:SM01392																	LOW	1	SNV				1										PASS		.	.												A	2	1	29	26161014	26161014	C	A	1	0	0	0	0	0	0	0	1	9097	668	24	2		2	MAGEB6P1	23	26161014	Silent	SNP	C	C3L-01924_TP	8359369	26161014	129879881	629	8944											
DMD	0	.	GRCh38	chrX	32472217	32472217	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagtcggtgacactaagttGaggtatggagagtttggttt	10	14	14	3	1	0	3	0	2	0	1	1	4	0	3	0	4	0	4	0	4	3	6	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2896C>T	p.Gln966Ter	p.Q966*	ENST00000357033	22/79	396	372	24	406	406	0	strelka-varscan-mutect	DMD,stop_gained,p.Gln966Ter,ENST00000357033,NM_000109.3,NM_004006.2;DMD,stop_gained,p.Gln962Ter,ENST00000378677,NM_004010.3,NM_004009.3;DMD,stop_gained,p.Gln966Ter,ENST00000620040,;DMD,stop_gained,p.Gln962Ter,ENST00000619831,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;	A	ENST00000357033	Transcript	stop_gained	3103/13956	2896/11058	966/3685	Q/*	Caa/Taa		1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2			22/79		hmmpanther:PTHR11915:SF261,hmmpanther:PTHR11915,Pfam_domain:PF00435,PIRSF_domain:PIRSF002341,Gene3D:1.20.58.60,SMART_domains:SM00150																	HIGH	1	SNV	1			1										PASS		rs1424174974	.												A	4	1	29	32472217	32472217	G	A	1	0	0	0	0	0	1	0	0	4387	1299	45	3		3	DMD	23	32472217	Nonsense_Mutation	SNP	G	C3L-01924_TP	6311203	32472217	123568678	630	8945											
FAM47C	0	.	GRCh38	chrX	37009105	37009105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcccaagactcaggtgtCcagtctccacctggagcctc	7	8	9	17	0	2	1	1	0	1	1	6	2	4	2	6	2	1	0	6	2	1	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.695C>A	p.Ser232Tyr	p.S232Y	ENST00000358047	1/1	342	317	25	413	413	0	varscan-mutect	FAM47C,missense_variant,p.Ser232Tyr,ENST00000358047,NM_001013736.2;	A	ENST00000358047	Transcript	missense_variant	709/3270	695/3108	232/1035	S/Y	tCc/tAc		1		1	FAM47C	HGNC	HGNC:25301	protein_coding	YES	CCDS35227.1	ENSP00000367913	Q5HY64		UPI000041ABF8	NM_001013736.2	deleterious(0)		1/1		hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	29	37009105	37009105	C	A	1	0	0	0	0	1	0	0	0	5449	855	30	2		2	FAM47C	23	37009105	Missense_Mutation	SNP	C	C3L-01924_TP	4536888	37009105	119031790	631	8946											
OTC	0	.	GRCh38	chrX	38409000	38409000	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagcggctccaggcttTccaaggttaccaggttacaa	13	8	10	10	1	0	0	0	0	0	0	2	1	2	0	3	4	3	4	3	4	6	3			C3L-01924_TP	C3L-01924_NB	T	T																c.842T>C	p.Phe281Ser	p.F281S	ENST00000039007	8/10	395	284	111	547	547	0	strelka-varscan-mutect	OTC,missense_variant,p.Phe281Ser,ENST00000039007,NM_000531.5;RP5-972B16.2,intron_variant,,ENST00000465127,;	C	ENST00000039007	Transcript	missense_variant	994/1585	842/1065	281/354	F/S	tTc/tCc	CM065363	1		1	OTC	HGNC	HGNC:8512	protein_coding	YES	CCDS14247.1	ENSP00000039007	P00480		UPI000013C550	NM_000531.5	deleterious(0)		8/10		Gene3D:3.40.50.1370,Pfam_domain:PF00185,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF1,Superfamily_domains:SSF53671,TIGRFAM_domain:TIGR00658																	MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	29	38409000	38409000	T	C	1	0	0	0	0	1	0	0	0	11367	1783	62	5		5	OTC	23	38409000	Missense_Mutation	SNP	T	C3L-01924_TP	1399895	38409000	117631895	632	8947											
CHST7	0	.	GRCh38	chrX	46574384	46574384	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgccgagagcttgcagggCgcgctgcgcgacatgctgcg	6	5	17	13	7	0	1	0	0	0	1	0	4	0	1	1	1	5	4	1	1	0	1			C3L-01924_TP	C3L-01924_NB	C	C																c.453C>A	p.=	p.G151G	ENST00000276055	1/2	263	247	16	264	264	0	strelka-varscan-mutect	CHST7,synonymous_variant,p.=,ENST00000276055,NM_019886.3;	A	ENST00000276055	Transcript	synonymous_variant	601/2289	453/1461	151/486	G	ggC/ggA	COSM4109582	1		1	CHST7	HGNC	HGNC:13817	protein_coding	YES	CCDS14268.1	ENSP00000276055	Q9NS84		UPI000000DADD	NM_019886.3			1/2		Gene3D:3.40.50.300,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF5											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	29	46574384	46574384	C	A	1	0	0	0	0	0	0	0	1	3169	755	27	1		1	CHST7	23	46574384	Silent	SNP	C	C3L-01924_TP	8165384	46574384	109466511	633	8948											
SYP	0	.	GRCh38	chrX	49193280	49193280	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggcttaccaccgaggTgttgagtcccgaggtcacag	8	7	13	13	2	1	1	1	1	0	0	2	3	2	1	4	3	1	2	4	3	1	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.607A>T	p.Thr203Ser	p.T203S	ENST00000263233	5/7	328	309	19	368	367	1	strelka-varscan-mutect	SYP,missense_variant,p.Thr203Ser,ENST00000263233,NM_003179.2;SYP,missense_variant,p.Thr203Ser,ENST00000479808,;SYP,missense_variant,p.Thr93Ser,ENST00000472598,;SYP,3_prime_UTR_variant,,ENST00000376303,;SYP,downstream_gene_variant,,ENST00000494396,;SYP,downstream_gene_variant,,ENST00000469389,;SYP,downstream_gene_variant,,ENST00000472737,;SYP,downstream_gene_variant,,ENST00000466635,;	A	ENST00000263233	Transcript	missense_variant	680/2498	607/942	203/313	T/S	Acc/Tcc		1		-1	SYP	HGNC	HGNC:11506	protein_coding	YES	CCDS14321.1	ENSP00000263233	P08247		UPI0000117AEC	NM_003179.2	tolerated(0.13)		5/7		Pfam_domain:PF01284,PROSITE_profiles:PS51225,hmmpanther:PTHR10306,hmmpanther:PTHR10306:SF10,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	49193280	49193280	T	A	1	0	0	0	0	1	0	0	0	15855	1696	59	4		4	SYP	23	49193280	Missense_Mutation	SNP	T	C3L-01924_TP	2618896	49193280	106847615	634	8949											
PPP1R3F	0	.	GRCh38	chrX	49286781	49286781	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggagccagcctctcccgtCcttctgcaggggcaaaatcc	9	7	10	15	1	2	0	0	0	2	0	5	1	4	1	5	3	3	2	5	3	3	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2091C>T	p.=	p.V697V	ENST00000055335	4/4	62	57	5	97	96	1	strelka-varscan-mutect	PPP1R3F,synonymous_variant,p.=,ENST00000055335,NM_033215.4;PPP1R3F,synonymous_variant,p.=,ENST00000376188,;PPP1R3F,synonymous_variant,p.=,ENST00000466508,;PPP1R3F,synonymous_variant,p.=,ENST00000495799,NM_001184745.1;PPP1R3F,intron_variant,,ENST00000471261,;	T	ENST00000055335	Transcript	synonymous_variant	2107/3421	2091/2400	697/799	V	gtC/gtT		1		1	PPP1R3F	HGNC	HGNC:14944	protein_coding	YES	CCDS35254.1	ENSP00000055335	Q6ZSY5		UPI00001D7BA8	NM_033215.4			4/4		hmmpanther:PTHR12307:SF5,hmmpanther:PTHR12307																	LOW	1	SNV	2			1										PASS		rs782168549	.												T	2	4	29	49286781	49286781	C	T	1	0	0	0	0	0	0	0	1	12496	842	30	3		3	PPP1R3F	23	49286781	Silent	SNP	C	C3L-01924_TP	93501	49286781	106754114	635	8950											
MAGED1	0	.	GRCh38	chrX	51896614	51896614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagaccccaccagcacGtcagagccctccagctaggc	10	3	10	18	1	1	2	1	0	0	2	2	2	2	2	5	2	3	3	5	2	1	1	rs373153783		C3L-01924_TP	C3L-01924_NB	G	G																c.1127G>T	p.Arg376Leu	p.R376L	ENST00000375695	5/14	221	188	33	259	259	0	strelka-varscan-mutect	MAGED1,missense_variant,p.Arg376Leu,ENST00000375695,NM_001005333.1;MAGED1,missense_variant,p.Arg320Leu,ENST00000375722,;MAGED1,missense_variant,p.Arg320Leu,ENST00000326587,NM_006986.3;MAGED1,missense_variant,p.Arg320Leu,ENST00000375772,NM_001005332.1;MAGED1,non_coding_transcript_exon_variant,,ENST00000494718,;MAGED1,non_coding_transcript_exon_variant,,ENST00000485420,;MAGED1,upstream_gene_variant,,ENST00000473931,;MAGED1,downstream_gene_variant,,ENST00000470461,;MAGED1,downstream_gene_variant,,ENST00000482188,;MAGED1,downstream_gene_variant,,ENST00000482599,;	T	ENST00000375695	Transcript	missense_variant	1280/2875	1127/2505	376/834	R/L	cGt/cTt	rs373153783,COSM1122846	1		1	MAGED1	HGNC	HGNC:6813	protein_coding	YES	CCDS35279.1	ENSP00000364847	Q9Y5V3		UPI0000074161	NM_001005333.1	deleterious_low_confidence(0)		5/14		hmmpanther:PTHR11736:SF28,hmmpanther:PTHR11736											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs373153783	.												T	3	4	29	51896614	51896614	G	T	1	0	0	0	0	1	0	0	0	9101	1145	40	1		1	MAGED1	23	51896614	Missense_Mutation	SNP	G	C3L-01924_TP	2609833	51896614	104144281	636	8951											
TRO	0	.	GRCh38	chrX	54924682	54924682	+	Missense_Mutation	SNP	G	G	T																															cctcccaggctaataagttgGtgaaatacctgttggttaag																								novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1354G>T	p.Val452Leu	p.V452L	ENST00000173898	5/13	165	155	10	215	215	0	strelka-varscan-mutect	TRO,missense_variant,p.Val452Leu,ENST00000173898,NM_001039705.2;TRO,missense_variant,p.Val55Leu,ENST00000375041,NM_001271184.1;TRO,missense_variant,p.Val452Leu,ENST00000319167,NM_016157.3;TRO,missense_variant,p.Val452Leu,ENST00000375022,NM_177556.2;TRO,missense_variant,p.Val55Leu,ENST00000622017,;TRO,missense_variant,p.Val55Leu,ENST00000399736,NM_177557.2;TRO,missense_variant,p.Val55Leu,ENST00000431115,;TRO,5_prime_UTR_variant,,ENST00000420798,NM_001271183.1;TRO,downstream_gene_variant,,ENST00000411534,;TRO,downstream_gene_variant,,ENST00000452830,;TRO,downstream_gene_variant,,ENST00000430420,;TRO,downstream_gene_variant,,ENST00000453081,;TRO,downstream_gene_variant,,ENST00000440759,;TRO,downstream_gene_variant,,ENST00000442098,;TRO,downstream_gene_variant,,ENST00000440072,;TRO,downstream_gene_variant,,ENST00000416704,;TRO,downstream_gene_variant,,ENST00000449980,;TRO,downstream_gene_variant,,ENST00000427099,;SNORA11,upstream_gene_variant,,ENST00000408823,;TRO,non_coding_transcript_exon_variant,,ENST00000484031,;TRO,non_coding_transcript_exon_variant,,ENST00000492142,;TRO,upstream_gene_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000474933,;TRO,missense_variant,p.Val452Leu,ENST00000445561,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,upstream_gene_variant,,ENST00000469211,;	T	ENST00000173898	Transcript	missense_variant	1466/4647	1354/4296	452/1431	V/L	Gtg/Ttg		1		1	TRO	HGNC	HGNC:12326	protein_coding	YES	CCDS43959.1	ENSP00000173898	Q12816		UPI000021208F	NM_001039705.2	deleterious(0.01)		5/13		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF83,Pfam_domain:PF01454,SMART_domains:SM01373																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	54924682	54924682	G	T	1	0	0	0	0	1	0	0	0	17079	1261	44	2		2	TRO	23	54924682	Missense_Mutation	SNP	G	C3L-01924_TP	3028068	54924682	101116213	637	8952	203	2									
TRO	0	.	GRCh38	chrX	54924684	54924684	+	Silent	SNP	G	G	T																															tcccaggctaataagttggtGaaatacctgttggttaagga																								novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1356G>T	p.=	p.V452V	ENST00000173898	5/13	169	159	10	217	217	0	strelka-varscan-mutect	TRO,synonymous_variant,p.=,ENST00000173898,NM_001039705.2;TRO,synonymous_variant,p.=,ENST00000375041,NM_001271184.1;TRO,synonymous_variant,p.=,ENST00000319167,NM_016157.3;TRO,synonymous_variant,p.=,ENST00000375022,NM_177556.2;TRO,synonymous_variant,p.=,ENST00000622017,;TRO,synonymous_variant,p.=,ENST00000399736,NM_177557.2;TRO,synonymous_variant,p.=,ENST00000431115,;TRO,5_prime_UTR_variant,,ENST00000420798,NM_001271183.1;TRO,downstream_gene_variant,,ENST00000411534,;TRO,downstream_gene_variant,,ENST00000452830,;TRO,downstream_gene_variant,,ENST00000430420,;TRO,downstream_gene_variant,,ENST00000453081,;TRO,downstream_gene_variant,,ENST00000440759,;TRO,downstream_gene_variant,,ENST00000442098,;TRO,downstream_gene_variant,,ENST00000440072,;TRO,downstream_gene_variant,,ENST00000416704,;TRO,downstream_gene_variant,,ENST00000449980,;TRO,downstream_gene_variant,,ENST00000427099,;SNORA11,upstream_gene_variant,,ENST00000408823,;TRO,non_coding_transcript_exon_variant,,ENST00000484031,;TRO,non_coding_transcript_exon_variant,,ENST00000492142,;TRO,upstream_gene_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000474933,;TRO,synonymous_variant,p.=,ENST00000445561,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,upstream_gene_variant,,ENST00000469211,;	T	ENST00000173898	Transcript	synonymous_variant	1468/4647	1356/4296	452/1431	V	gtG/gtT		1		1	TRO	HGNC	HGNC:12326	protein_coding	YES	CCDS43959.1	ENSP00000173898	Q12816		UPI000021208F	NM_001039705.2			5/13		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF83,Pfam_domain:PF01454,SMART_domains:SM01373																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	54924684	54924684	G	T	1	0	0	0	0	0	0	0	1	17079	1277	45	2		2	TRO	23	54924684	Silent	SNP	G	C3L-01924_TP	2	54924684	101116211	638	8953	203	2									
PFKFB1	0	.	GRCh38	chrX	54952085	54952085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgtagcgtgtgcccacGtcgaagatcttgatgtagga	10	10	12	9	3	1	2	0	1	1	1	2	4	1	3	2	1	2	2	2	1	3	3	rs766396112		C3L-01924_TP	C3L-01924_NB	G	G																c.666C>A	p.Asp222Glu	p.D222E	ENST00000375006	8/14	161	150	11	189	189	0	strelka-mutect	PFKFB1,missense_variant,p.Asp222Glu,ENST00000375006,NM_001271804.1,NM_002625.3;PFKFB1,missense_variant,p.Asp157Glu,ENST00000545676,NM_001271805.1;PFKFB1,5_prime_UTR_variant,,ENST00000614686,;PFKFB1,intron_variant,,ENST00000374992,;	T	ENST00000375006	Transcript	missense_variant	737/1929	666/1416	222/471	D/E	gaC/gaA	rs766396112,COSM1558584,COSM3965386	1		-1	PFKFB1	HGNC	HGNC:8872	protein_coding	YES	CCDS14364.1	ENSP00000364145	P16118		UPI000012A3ED	NM_001271804.1,NM_002625.3			8/14		Gene3D:3.40.50.300,Pfam_domain:PF01591,PIRSF_domain:PIRSF000709,hmmpanther:PTHR10606,hmmpanther:PTHR10606:SF15,Superfamily_domains:SSF52540											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs766396112	.												T	3	4	29	54952085	54952085	G	T	1	0	0	0	0	1	0	0	0	11850	1136	40	1		1	PFKFB1	23	54952085	Missense_Mutation	SNP	G	C3L-01924_TP	27401	54952085	101088810	639	8954											
APEX2	0	.	GRCh38	chrX	55006767	55006767	+	Missense_Mutation	SNP	C	C	A																															ttcaggcctctttcctgctgCctgaggtgatgggctctgac																								novel		C3L-01924_TP	C3L-01924_NB	C	C																c.889C>A	p.Pro297Thr	p.P297T	ENST00000374987	6/6	63	57	6	73	73	0	strelka-varscan-mutect	APEX2,missense_variant,p.Pro297Thr,ENST00000374987,NM_014481.3;ALAS2,downstream_gene_variant,,ENST00000330807,NM_000032.4;ALAS2,downstream_gene_variant,,ENST00000396198,NM_001037968.3;ALAS2,downstream_gene_variant,,ENST00000335854,NM_001037967.3;ALAS2,downstream_gene_variant,,ENST00000498636,;APEX2,downstream_gene_variant,,ENST00000471758,;	A	ENST00000374987	Transcript	missense_variant	955/3245	889/1557	297/518	P/T	Cct/Act		1		1	APEX2	HGNC	HGNC:17889	protein_coding	YES	CCDS14365.1	ENSP00000364126	Q9UBZ4	E5KN95	UPI0000071F5B	NM_014481.3	deleterious(0)		6/6		Gene3D:3.60.10.10,Pfam_domain:PF03372,PROSITE_profiles:PS51435,hmmpanther:PTHR22748,hmmpanther:PTHR22748:SF4,Superfamily_domains:SSF56219,TIGRFAM_domain:TIGR00633																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	55006767	55006767	C	A	1	0	0	0	0	1	0	0	0	891	739	26	2		2	APEX2	23	55006767	Missense_Mutation	SNP	C	C3L-01924_TP	54682	55006767	101034128	640	8955	204	2									
APEX2	0	.	GRCh38	chrX	55006768	55006768	+	Missense_Mutation	SNP	C	C	T																															tcaggcctctttcctgctgcCtgaggtgatgggctctgacc																								novel		C3L-01924_TP	C3L-01924_NB	C	C																c.890C>T	p.Pro297Leu	p.P297L	ENST00000374987	6/6	64	58	6	78	78	0	strelka-varscan-mutect	APEX2,missense_variant,p.Pro297Leu,ENST00000374987,NM_014481.3;ALAS2,downstream_gene_variant,,ENST00000330807,NM_000032.4;ALAS2,downstream_gene_variant,,ENST00000396198,NM_001037968.3;ALAS2,downstream_gene_variant,,ENST00000335854,NM_001037967.3;ALAS2,downstream_gene_variant,,ENST00000498636,;APEX2,downstream_gene_variant,,ENST00000471758,;	T	ENST00000374987	Transcript	missense_variant	956/3245	890/1557	297/518	P/L	cCt/cTt		1		1	APEX2	HGNC	HGNC:17889	protein_coding	YES	CCDS14365.1	ENSP00000364126	Q9UBZ4	E5KN95	UPI0000071F5B	NM_014481.3	deleterious(0)		6/6		Gene3D:3.60.10.10,Pfam_domain:PF03372,PROSITE_profiles:PS51435,hmmpanther:PTHR22748,hmmpanther:PTHR22748:SF4,Superfamily_domains:SSF56219,TIGRFAM_domain:TIGR00633																	MODERATE	1	SNV	1			1										PASS		rs1213363044	.												T	3	4	29	55006768	55006768	C	T	1	0	0	0	0	1	0	0	0	891	681	24	3		3	APEX2	23	55006768	Missense_Mutation	SNP	C	C3L-01924_TP	1	55006768	101034127	641	8956	204	2									
LAS1L	0	.	GRCh38	chrX	65534573	65534573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctggtcccactcggccCtgctgagccaggcgaccacg	6	6	11	18	3	1	1	1	1	0	0	3	2	2	1	5	3	2	1	5	3	0	0	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.143G>T	p.Arg48Met	p.R48M	ENST00000374811	1/14	312	288	24	268	267	1	strelka-varscan-mutect	LAS1L,missense_variant,p.Arg48Met,ENST00000374811,NM_031206.4;LAS1L,missense_variant,p.Arg48Met,ENST00000374807,NM_001170649.1;LAS1L,missense_variant,p.Arg48Met,ENST00000374804,NM_001170650.1;LAS1L,missense_variant,p.Arg48Met,ENST00000484069,;	A	ENST00000374811	Transcript	missense_variant	184/2439	143/2205	48/734	R/M	aGg/aTg		1		-1	LAS1L	HGNC	HGNC:25726	protein_coding	YES	CCDS14381.1	ENSP00000363944	Q9Y4W2		UPI0000073CB7	NM_031206.4	deleterious(0)		1/14		Pfam_domain:PF04031,hmmpanther:PTHR15002																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	65534573	65534573	C	A	1	0	0	0	0	1	0	0	0	8547	681	24	2		2	LAS1L	23	65534573	Missense_Mutation	SNP	C	C3L-01924_TP	10527805	65534573	90506322	642	8957											
HEPH	0	.	GRCh38	chrX	66256291	66256291	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatccaggcagtattaacCtacaggatgaaactttcttg	13	11	9	8	0	1	1	0	1	1	0	2	3	2	3	2	3	3	2	2	3	4	5	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.3019C>A	p.Leu1007Ile	p.L1007I	ENST00000519389	17/21	159	143	16	215	215	0	strelka-varscan-mutect	HEPH,missense_variant,p.Leu1007Ile,ENST00000519389,NM_138737.4;HEPH,missense_variant,p.Leu953Ile,ENST00000343002,;HEPH,missense_variant,p.Leu956Ile,ENST00000441993,NM_001130860.3;HEPH,missense_variant,p.Leu686Ile,ENST00000336279,NM_014799.3;HEPH,missense_variant,p.Leu764Ile,ENST00000419594,NM_001282141.1;	A	ENST00000519389	Transcript	missense_variant	3198/6013	3019/3639	1007/1212	L/I	Cta/Ata		1		1	HEPH	HGNC	HGNC:4866	protein_coding	YES	CCDS14384.3	ENSP00000430620	Q9BQS7		UPI0001C06560	NM_138737.4	tolerated(0.38)		17/21		hmmpanther:PTHR10127:SF622,hmmpanther:PTHR10127,Gene3D:2.60.40.420,Superfamily_domains:SSF49503																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	66256291	66256291	C	A	1	0	0	0	0	1	0	0	0	6938	680	24	2		2	HEPH	23	66256291	Missense_Mutation	SNP	C	C3L-01924_TP	721718	66256291	89784604	643	8958											
AR	0	.	GRCh38	chrX	67545325	67545325	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgctgctgcagcagcAgcagcagcagcagcagcagc	9	6	13	13	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	0	1	rs868302830		C3L-01924_TP	C3L-01924_NB	A	A																c.179A>T	p.Gln60Leu	p.Q60L	ENST00000374690	1/8	209	196	13	280	275	5	varscan-mutect	AR,missense_variant,p.Gln60Leu,ENST00000396044,;AR,missense_variant,p.Gln60Leu,ENST00000374690,NM_000044.3;AR,missense_variant,p.Gln60Leu,ENST00000612010,;AR,missense_variant,p.Gln60Leu,ENST00000504326,;AR,missense_variant,p.Gln60Leu,ENST00000613054,;AR,5_prime_UTR_variant,,ENST00000612452,;AR,non_coding_transcript_exon_variant,,ENST00000513847,;AR,missense_variant,p.Gln60Leu,ENST00000514029,;	T	ENST00000374690	Transcript	missense_variant	703/10065	179/2763	60/920	Q/L	cAg/cTg	rs868302830	1		1	AR	HGNC	HGNC:644	protein_coding	YES	CCDS14387.1	ENSP00000363822	P10275		UPI0000167B08	NM_000044.3	deleterious_low_confidence(0.03)		1/8		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02166,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF6,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs759327087	.												T	3	4	29	67545325	67545325	A	T	1	0	0	0	0	1	0	0	0	958	188	7	4		4	AR	23	67545325	Missense_Mutation	SNP	A	C3L-01924_TP	1289034	67545325	88495570	644	8959											
PJA1	0	.	GRCh38	chrX	69161972	69161972	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccagccccggcactggCactagcaccggggccagggc	6	2	16	17	3	0	0	0	0	0	0	0	0	0	0	5	6	2	3	5	6	1	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1267G>T	p.Ala423Ser	p.A423S	ENST00000361478	2/2	240	220	20	249	249	0	strelka-varscan-mutect	PJA1,missense_variant,p.Ala423Ser,ENST00000361478,NM_145119.3;PJA1,missense_variant,p.Ala423Ser,ENST00000374583,;PJA1,missense_variant,p.Ala368Ser,ENST00000374571,NM_001032396.2;PJA1,missense_variant,p.Ala235Ser,ENST00000374584,NM_022368.4;PJA1,intron_variant,,ENST00000471141,;PJA1,downstream_gene_variant,,ENST00000590146,;PJA1,downstream_gene_variant,,ENST00000477231,;	A	ENST00000361478	Transcript	missense_variant	1645/2755	1267/1932	423/643	A/S	Gcc/Tcc		1		-1	PJA1	HGNC	HGNC:16648	protein_coding	YES	CCDS14393.1	ENSP00000355014	Q8NG27		UPI000006D00A	NM_145119.3	tolerated(0.58)		2/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	69161972	69161972	C	A	1	0	0	0	0	1	0	0	0	12057	710	25	2		2	PJA1	23	69161972	Missense_Mutation	SNP	C	C3L-01924_TP	1616647	69161972	86878923	645	8960											
P2RY4	0	.	GRCh38	chrX	70259564	70259564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtccagctccacctcacTgctgccaggacctgggctga	8	7	10	16	0	1	1	1	1	0	0	3	2	3	2	5	2	3	3	5	2	0	0	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.61A>G	p.Ser21Gly	p.S21G	ENST00000374519	1/1	126	119	7	182	181	1	strelka-varscan-mutect	P2RY4,missense_variant,p.Ser21Gly,ENST00000374519,NM_002565.3;	C	ENST00000374519	Transcript	missense_variant	201/1595	61/1098	21/365	S/G	Agt/Ggt		1		-1	P2RY4	HGNC	HGNC:8542	protein_coding	YES	CCDS14398.1	ENSP00000363643	P51582		UPI000002E776	NM_002565.3	tolerated(0.38)		1/1		hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF21,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	29	70259564	70259564	T	C	1	0	0	0	0	1	0	0	0	11426	1580	55	5		5	P2RY4	23	70259564	Missense_Mutation	SNP	T	C3L-01924_TP	1097592	70259564	85781331	646	8961											
MAGEE1	0	.	GRCh38	chrX	76429053	76429053	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccgcccaccgcctctgatGgatcggacacctccgtgccg	5	7	11	18	5	1	1	0	1	1	0	3	3	2	3	7	2	2	0	7	2	0	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1123G>T	p.Gly375Ter	p.G375*	ENST00000361470	1/1	260	161	99	271	271	0	strelka-varscan-mutect	MAGEE1,stop_gained,p.Gly375Ter,ENST00000361470,NM_020932.2;	T	ENST00000361470	Transcript	stop_gained	1330/3630	1123/2874	375/957	G/*	Gga/Tga		1		1	MAGEE1	HGNC	HGNC:24934	protein_coding	YES	CCDS14433.1	ENSP00000354912	Q9HCI5		UPI000006F138	NM_020932.2			1/1		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF9																	HIGH	1	SNV				1										PASS		.	.												T	4	4	29	76429053	76429053	G	T	1	0	0	0	0	0	1	0	0	9103	1349	47	2		2	MAGEE1	23	76429053	Nonsense_Mutation	SNP	G	C3L-01924_TP	6169489	76429053	79611842	647	8962											
LPAR4	0	.	GRCh38	chrX	78755968	78755968	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtggtgaattaatgctaGaatccaccttttaggtatga	12	14	10	5	0	0	3	0	2	0	1	1	3	1	3	2	3	1	2	2	3	6	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1099G>T	p.Glu367Ter	p.E367*	ENST00000435339	2/2	69	63	6	129	127	2	strelka-varscan-mutect	LPAR4,stop_gained,p.Glu367Ter,ENST00000435339,NM_005296.2;LPAR4,stop_gained,p.Glu367Ter,ENST00000614823,NM_001278000.1;LPAR4,downstream_gene_variant,,ENST00000514744,;LPAR4,downstream_gene_variant,,ENST00000610214,;LPAR4,downstream_gene_variant,,ENST00000607964,;	T	ENST00000435339	Transcript	stop_gained	1485/2611	1099/1113	367/370	E/*	Gaa/Taa		1		1	LPAR4	HGNC	HGNC:4478	protein_coding	YES	CCDS14441.1	ENSP00000408205	Q99677		UPI000005041D	NM_005296.2			2/2		hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF41																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	29	78755968	78755968	G	T	1	0	0	0	0	0	1	0	0	8810	943	33	2		2	LPAR4	23	78755968	Nonsense_Mutation	SNP	G	C3L-01924_TP	2326915	78755968	77284927	648	8963											
BRWD3	0	.	GRCh38	chrX	80676683	80676683	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactctgcctgatctggatgTaccaagattcagaggatcct	10	11	9	11	0	3	3	1	1	2	2	4	5	4	5	3	2	2	1	3	2	2	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.5335A>T	p.Thr1779Ser	p.T1779S	ENST00000373275	41/41	165	147	18	219	219	0	strelka-varscan-mutect	BRWD3,missense_variant,p.Thr1779Ser,ENST00000373275,NM_153252.4;BRWD3,downstream_gene_variant,,ENST00000473691,;	A	ENST00000373275	Transcript	missense_variant	5552/11381	5335/5409	1779/1802	T/S	Aca/Tca		1		-1	BRWD3	HGNC	HGNC:17342	protein_coding	YES	CCDS14447.1	ENSP00000362372	Q6RI45		UPI000045785B	NM_153252.4	deleterious_low_confidence(0.02)		41/41		hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	80676683	80676683	T	A	1	0	0	0	0	1	0	0	0	1700	1638	57	4		4	BRWD3	23	80676683	Missense_Mutation	SNP	T	C3L-01924_TP	1920715	80676683	75364212	649	8964											
TAF7L	0	.	GRCh38	chrX	101292889	101292889	+	Frame_Shift_Del	DEL	C	C	-																															ggcaggaatctgggtgccttCgtcgccagcaatgtcggcgc																								novel		C3L-01924_TP	C3L-01924_NB	C	C																c.157delG	p.Glu53LysfsTer35	p.E53Kfs*35	ENST00000372907	1/13	310	293	17	377	376	1	varindel-pindel	TAF7L,frameshift_variant,p.Glu53LysfsTer35,ENST00000372907,NM_024885.3;TAF7L,upstream_gene_variant,,ENST00000356784,NM_001168474.1;	-	ENST00000372907	Transcript	frameshift_variant	169/2341	157/1389	53/462	E/X	Gaa/aa		1		-1	TAF7L	HGNC	HGNC:11548	protein_coding	YES	CCDS35347.1	ENSP00000361998	Q5H9L4		UPI0000212176	NM_024885.3			1/13		hmmpanther:PTHR12228:SF8,hmmpanther:PTHR12228																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	29	101292889	101292889	C	-	1	0	1	0	1	0	0	0	0	15929	893	31	0		0	TAF7L	23	101292889	Frame_Shift_Del	DEL	C	C3L-01924_TP	20616206	101292889	54748006	650	8965											
RAB40A	0	.	GRCh38	chrX	103500386	103500386	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgtaggcgattccccAccaggattttagggacacca	11	8	10	12	1	0	1	0	0	0	1	1	4	1	3	5	3	0	1	5	3	2	4	novel		C3L-01924_TP	C3L-01924_NB	A	A																c.371T>A	p.Val124Glu	p.V124E	ENST00000372633	1/1	200	184	16	301	301	0	varscan-mutect	RAB40A,missense_variant,p.Val124Glu,ENST00000372633,;RAB40A,missense_variant,p.Val124Glu,ENST00000304236,NM_080879.2;LL0XNC01-250H12.3,downstream_gene_variant,,ENST00000445990,;	T	ENST00000372633	Transcript	missense_variant	2490/3126	371/834	124/277	V/E	gTg/gAg		1		-1	RAB40A	HGNC	HGNC:18283	protein_coding	YES	CCDS35357.1	ENSP00000361716	Q8WXH6		UPI000013E953		deleterious(0)		1/1		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF442,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231																	MODERATE		SNV				1										PASS		rs1427761871	.												T	3	4	29	103500386	103500386	A	T	1	0	0	0	0	1	0	0	0	13098	159	6	4		4	RAB40A	23	103500386	Missense_Mutation	SNP	A	C3L-01924_TP	2207497	103500386	52540509	651	8966											
MUM1L1	0	.	GRCh38	chrX	106207346	106207346	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaattaaatttatcctagaAgttcttctgccagaagcaat	16	13	5	7	0	2	2	0	0	2	2	3	2	3	2	2	0	2	2	2	0	9	6	rs749708056		C3L-01924_TP	C3L-01924_NB	A	A																c.1914A>C	p.Glu638Asp	p.E638D	ENST00000337685	5/5	148	139	9	208	207	1	strelka-varscan-mutect	MUM1L1,missense_variant,p.Glu638Asp,ENST00000337685,NM_152423.4;MUM1L1,missense_variant,p.Glu638Asp,ENST00000357175,NM_001171020.1;MUM1L1,missense_variant,p.Glu638Asp,ENST00000372552,;	C	ENST00000337685	Transcript	missense_variant	2699/4308	1914/2091	638/696	E/D	gaA/gaC	rs749708056,COSM5432931,COSM5432932	1		1	MUM1L1	HGNC	HGNC:26583	protein_coding	YES	CCDS55469.1	ENSP00000338641	Q5H9M0		UPI0000212206	NM_152423.4	deleterious(0.04)		5/5		hmmpanther:PTHR31333,hmmpanther:PTHR31333:SF3											0,1,1						MODERATE	1	SNV	3		0,1,1	1										PASS		rs749708056	.												C	3	2	29	106207346	106207346	A	C	1	0	0	0	0	1	0	0	0	9984	69	3	5		5	MUM1L1	23	106207346	Missense_Mutation	SNP	A	C3L-01924_TP	2706960	106207346	49833549	652	8967											
COL4A6	0	.	GRCh38	chrX	108180962	108180962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggaataatacagggcaggGtgattcctgtaaatggtaac	14	9	12	6	0	0	1	0	1	0	0	1	2	1	2	1	4	2	3	1	4	6	5	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.2009C>A	p.Thr670Asn	p.T670N	ENST00000394872	25/46	185	170	15	198	198	0	strelka-varscan-mutect	COL4A6,missense_variant,p.Thr670Asn,ENST00000394872,NM_001287758.1;COL4A6,missense_variant,p.Thr653Asn,ENST00000334504,NM_033641.3;COL4A6,missense_variant,p.Thr653Asn,ENST00000621266,NM_001287759.1;COL4A6,missense_variant,p.Thr654Asn,ENST00000372216,NM_001847.3;COL4A6,missense_variant,p.Thr653Asn,ENST00000538570,NM_001287760.1;COL4A6,missense_variant,p.Thr653Asn,ENST00000545689,;	T	ENST00000394872	Transcript	missense_variant	2243/6750	2009/5124	670/1707	T/N	aCc/aAc		1		-1	COL4A6	HGNC	HGNC:2208	protein_coding	YES	CCDS76010.1	ENSP00000378340		A8MXH5	UPI000387C996	NM_001287758.1	tolerated(0.09)		25/46																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	29	108180962	108180962	G	T	1	0	0	0	0	1	0	0	0	3484	1261	44	2		2	COL4A6	23	108180962	Missense_Mutation	SNP	G	C3L-01924_TP	1973616	108180962	47859933	653	8968											
SEPT6	0	.	GRCh38	chrX	119650084	119650084	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatctgctttggcaatgatGgggatgatgttcacctaggg	8	12	14	7	0	2	2	1	2	1	0	2	3	2	3	1	4	1	4	1	4	2	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.543C>A	p.=	p.P181P	ENST00000343984	5/10	120	114	6	135	135	0	strelka-mutect	SEPT6,synonymous_variant,p.=,ENST00000394610,NM_145799.3;SEPT6,synonymous_variant,p.=,ENST00000354416,;SEPT6,synonymous_variant,p.=,ENST00000343984,NM_015129.5;SEPT6,synonymous_variant,p.=,ENST00000360156,NM_145800.3;SEPT6,synonymous_variant,p.=,ENST00000489216,;SEPT6,synonymous_variant,p.=,ENST00000354228,NM_145802.3;MIR766,upstream_gene_variant,,ENST00000390223,;SEPT6,synonymous_variant,p.=,ENST00000460411,;	T	ENST00000343984	Transcript	synonymous_variant	808/2693	543/1305	181/434	P	ccC/ccA		1		-1	SEPT6	HGNC	HGNC:15848	protein_coding	YES	CCDS14584.1	ENSP00000341524	Q14141		UPI0000001C54	NM_015129.5			5/10		PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF55,Pfam_domain:PF00735,PIRSF_domain:PIRSF006698,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	29	119650084	119650084	G	T	1	0	0	0	0	0	0	0	1	14344	1335	47	2		2	SEPT6	23	119650084	Silent	SNP	G	C3L-01924_TP	11469122	119650084	36390811	654	8969											
ATP1B4	0	.	GRCh38	chrX	120371207	120371207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcctaaatggctttctcCagggtaagtaagttcgtctg	9	14	10	8	1	2	0	0	0	2	0	4	0	2	0	2	2	1	4	2	2	5	6	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.559C>A	p.Gln187Lys	p.Q187K	ENST00000218008	4/8	177	137	40	150	150	0	strelka-varscan-mutect	ATP1B4,missense_variant,p.Gln144Lys,ENST00000539306,;ATP1B4,missense_variant,p.Gln187Lys,ENST00000218008,NM_001142447.2;ATP1B4,missense_variant,p.Gln183Lys,ENST00000361319,NM_012069.4;	A	ENST00000218008	Transcript	missense_variant	616/3868	559/1074	187/357	Q/K	Cag/Aag		1		1	ATP1B4	HGNC	HGNC:808	protein_coding	YES	CCDS48158.1	ENSP00000218008	Q9UN42		UPI00001262A4	NM_001142447.2	tolerated(0.35)		4/8		Gene3D:2zxeB02,Pfam_domain:PF00287,hmmpanther:PTHR11523,hmmpanther:PTHR11523:SF12,TIGRFAM_domain:TIGR01107																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	120371207	120371207	C	A	1	0	0	0	0	1	0	0	0	1287	608	21	2		2	ATP1B4	23	120371207	Missense_Mutation	SNP	C	C3L-01924_TP	721123	120371207	35669688	655	8970											
CT47B1	0	.	GRCh38	chrX	120875469	120875469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcggccaggcctgccgcctGctcaccctcctcctccccga	3	7	9	22	3	1	0	1	0	0	0	4	1	4	0	9	2	3	1	9	2	0	0	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.202C>A	p.Gln68Lys	p.Q68K	ENST00000371311	1/3	541	503	38	611	611	0	varscan-mutect	CT47B1,missense_variant,p.Gln68Lys,ENST00000371311,NM_001145718.1;RP1-321E8.5,downstream_gene_variant,,ENST00000613352,;RP1-321E8.4,upstream_gene_variant,,ENST00000604718,;	T	ENST00000371311	Transcript	missense_variant	461/1328	202/900	68/299	Q/K	Cag/Aag		1		-1	CT47B1	HGNC	HGNC:33293	protein_coding	YES	CCDS48161.1	ENSP00000360360	P0C2W7		UPI000036776D	NM_001145718.1	tolerated(0.54)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR32157:SF4,hmmpanther:PTHR32157,Pfam_domain:PF15623																	MODERATE		SNV	5			1										PASS		rs1323365017	.												T	3	4	29	120875469	120875469	G	T	1	0	0	0	0	1	0	0	0	3791	1328	46	2		2	CT47B1	23	120875469	Missense_Mutation	SNP	G	C3L-01924_TP	504262	120875469	35165426	656	8971											
TENM1	0	.	GRCh38	chrX	124565414	124565414	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccatccagggctacactCacattttccatctttgcatt	8	14	4	15	0	2	0	1	0	1	0	5	0	5	0	3	1	2	2	3	1	1	5			C3L-01924_TP	C3L-01924_NB	C	C																c.2224G>T	p.Glu742Ter	p.E742*	ENST00000422452	12/32	125	114	11	146	146	0	strelka-varscan-mutect	TENM1,stop_gained,p.Glu742Ter,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,stop_gained,p.Glu742Ter,ENST00000371130,NM_014253.3;	A	ENST00000422452	Transcript	stop_gained	2288/12891	2224/8199	742/2732	E/*	Gag/Tag	COSM4823737,COSM4823738	1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1			12/32		PROSITE_profiles:PS50026,hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Pfam_domain:PF12661,Gene3D:2.10.25.10,SMART_domains:SM00181											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												A	4	1	29	124565414	124565414	C	A	1	0	0	0	0	0	1	0	0	16171	835	29	2		2	TENM1	23	124565414	Nonsense_Mutation	SNP	C	C3L-01924_TP	3689945	124565414	31475481	657	8972											
GPR119	0	.	GRCh38	chrX	130385371	130385371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagcagcacagccacaGccactagtgtgttagtagca	13	7	9	12	0	1	0	1	0	0	0	1	0	1	0	2	0	6	5	2	0	4	3	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.77C>T	p.Ala26Val	p.A26V	ENST00000276218	1/1	162	103	59	202	202	0	strelka-varscan-mutect	GPR119,missense_variant,p.Ala26Val,ENST00000276218,NM_178471.2;	A	ENST00000276218	Transcript	missense_variant	77/1008	77/1008	26/335	A/V	gCt/gTt		1		-1	GPR119	HGNC	HGNC:19060	protein_coding	YES	CCDS14625.1	ENSP00000276218	Q8TDV5		UPI000003AFD2	NM_178471.2	tolerated(0.22)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF7,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	29	130385371	130385371	G	A	1	0	0	0	0	1	0	0	0	6527	971	34	3		3	GPR119	23	130385371	Missense_Mutation	SNP	G	C3L-01924_TP	5819957	130385371	25655524	658	8973											
OR13H1	0	.	GRCh38	chrX	131544541	131544541	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacatcacttgtgctcacTgccatgctcatcctatccct	7	12	7	15	0	3	0	3	0	0	0	5	1	5	1	3	1	3	2	3	1	1	2	novel		C3L-01924_TP	C3L-01924_NB	T	T																c.468T>C	p.=	p.T156T	ENST00000338616	1/1	238	196	42	284	284	0	strelka-varscan-mutect	OR13H1,synonymous_variant,p.=,ENST00000338616,NM_001004486.1;IGSF1,intron_variant,,ENST00000370904,;	C	ENST00000338616	Transcript	synonymous_variant	468/927	468/927	156/308	T	acT/acC		1		1	OR13H1	HGNC	HGNC:14755	protein_coding	YES	CCDS35396.1	ENSP00000340748	Q8NG92	A0A126GW70	UPI000003CAC9	NM_001004486.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF76,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												C	2	2	29	131544541	131544541	T	C	1	0	0	0	0	0	0	0	1	11019	1567	55	5		5	OR13H1	23	131544541	Silent	SNP	T	C3L-01924_TP	1159170	131544541	24496354	659	8974											
USP26	0	.	GRCh38	chrX	133026552	133026552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcactcaagggaagaggtgGtctggtgccttcattgcaat	9	11	12	9	0	4	1	3	0	1	1	4	2	4	2	1	4	2	1	1	4	3	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1669C>G	p.Pro557Ala	p.P557A	ENST00000511190	6/6	163	149	14	205	205	0	strelka-varscan-mutect	USP26,missense_variant,p.Pro557Ala,ENST00000511190,;USP26,missense_variant,p.Pro557Ala,ENST00000370832,NM_031907.1;	C	ENST00000511190	Transcript	missense_variant	2139/3665	1669/2742	557/913	P/A	Cca/Gca		1		-1	USP26	HGNC	HGNC:13485	protein_coding	YES	CCDS14635.1	ENSP00000423390	Q9BXU7		UPI00000421FD		deleterious(0.04)		6/6		PROSITE_profiles:PS50235,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	MODERATE	1	SNV	2			1										PASS		rs1174150387	.												C	3	2	29	133026552	133026552	G	C	1	0	0	0	0	1	0	0	0	17598	1261	44	4		4	USP26	23	133026552	Missense_Mutation	SNP	G	C3L-01924_TP	1482011	133026552	23014343	660	8975											
GPC3	0	.	GRCh38	chrX	133536160	133536160	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcacaccaccgagatGgccatgctggtgagaagctt	13	6	12	10	1	0	3	0	1	0	3	0	5	0	3	3	2	3	3	3	2	3	1	rs769273303		C3L-01924_TP	C3L-01924_NB	G	G																c.1776C>A	p.=	p.A592A	ENST00000394299	9/9	211	195	16	300	299	1	strelka-varscan-mutect	GPC3,synonymous_variant,p.=,ENST00000370818,NM_004484.3,NM_001164618.1;GPC3,synonymous_variant,p.=,ENST00000394299,NM_001164617.1;GPC3,synonymous_variant,p.=,ENST00000631057,NM_001164619.1;RNU6-203P,upstream_gene_variant,,ENST00000384038,;	T	ENST00000394299	Transcript	synonymous_variant	1973/2379	1776/1812	592/603	A	gcC/gcA	rs769273303	1		-1	GPC3	HGNC	HGNC:4451	protein_coding	YES	CCDS55496.1	ENSP00000377836	P51654		UPI00015E044A	NM_001164617.1			9/9		Pfam_domain:PF01153,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF4																	LOW	1	SNV	1			1										PASS		rs769273303	.												T	2	4	29	133536160	133536160	G	T	1	0	0	0	0	0	0	0	1	6501	1335	47	2		2	GPC3	23	133536160	Silent	SNP	G	C3L-01924_TP	509608	133536160	22504735	661	8976											
ADGRG4	0	.	GRCh38	chrX	136349050	136349050	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtgcttctggacccacaAaaaatgttaaaacaaccacc	17	7	6	11	0	1	1	0	0	1	1	1	2	1	2	3	1	3	2	3	1	6	2	rs776278812		C3L-01924_TP	C3L-01924_NB	A	A																c.5344A>C	p.Lys1782Gln	p.K1782Q	ENST00000394143	6/26	118	110	8	195	195	0	strelka-varscan-mutect	ADGRG4,missense_variant,p.Lys1782Gln,ENST00000394143,NM_153834.3;ADGRG4,missense_variant,p.Lys1782Gln,ENST00000370652,;ADGRG4,missense_variant,p.Lys1577Gln,ENST00000394141,;	C	ENST00000394143	Transcript	missense_variant	5635/9931	5344/9243	1782/3080	K/Q	Aaa/Caa	rs776278812	1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3	deleterious(0.03)		6/26																			MODERATE	1	SNV	1			1										PASS		rs776278812	.												C	3	2	29	136349050	136349050	A	C	1	0	0	0	0	1	0	0	0	371	15	1	5		5	ADGRG4	23	136349050	Missense_Mutation	SNP	A	C3L-01924_TP	2812890	136349050	19691845	662	8977											
ADGRG4	0	.	GRCh38	chrX	136414236	136414236	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctttgagcacaaactgttGacgccatctctcaagtcaac	12	11	6	12	1	4	2	2	2	2	0	5	2	4	2	1	0	3	2	1	0	3	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.9114G>C	p.Leu3038Phe	p.L3038F	ENST00000394143	25/26	189	175	14	203	203	0	strelka-mutect	ADGRG4,missense_variant,p.Leu3038Phe,ENST00000394143,NM_153834.3;ADGRG4,missense_variant,p.Leu3038Phe,ENST00000370652,;ADGRG4,missense_variant,p.Leu2833Phe,ENST00000394141,;	C	ENST00000394143	Transcript	missense_variant	9405/9931	9114/9243	3038/3080	L/F	ttG/ttC		1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3	deleterious(0)		25/26		hmmpanther:PTHR12011:SF277,hmmpanther:PTHR12011																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	29	136414236	136414236	G	C	1	0	0	0	0	1	0	0	0	371	1281	45	4		4	ADGRG4	23	136414236	Missense_Mutation	SNP	G	C3L-01924_TP	65186	136414236	19626659	663	8978											
F9	0	.	GRCh38	chrX	139541100	139541100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcagtgtgagtccaatcCatgtttaaatggcggcagtt	11	12	11	7	1	1	2	1	1	0	1	3	2	3	2	2	2	0	3	2	2	3	3			C3L-01924_TP	C3L-01924_NB	C	C																c.302C>T	p.Pro101Leu	p.P101L	ENST00000218099	4/8	288	248	40	377	377	0	strelka-varscan-mutect	F9,missense_variant,p.Pro101Leu,ENST00000218099,NM_000133.3;F9,intron_variant,,ENST00000394090,;F9,non_coding_transcript_exon_variant,,ENST00000479617,;	T	ENST00000218099	Transcript	missense_variant	309/2780	302/1386	101/461	P/L	cCa/cTa	CM940456,CM940457,CM990569	1		1	F9	HGNC	HGNC:3551	protein_coding	YES	CCDS14666.1	ENSP00000218099	P00740		UPI000002BA13	NM_000133.3	deleterious(0.02)		4/8		Gene3D:2.10.25.10,Pfam_domain:PF00008,PIRSF_domain:PIRSF001143,Prints_domain:PR00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF135,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57630																	MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	29	139541100	139541100	C	T	1	0	0	0	0	1	0	0	0	5220	594	21	3		3	F9	23	139541100	Missense_Mutation	SNP	C	C3L-01924_TP	3126864	139541100	16499795	664	8979											
MAGEC1	0	.	GRCh38	chrX	141906890	141906890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactttattgagtcttttcCagagttcccctgagtgtact	7	16	7	11	0	1	3	0	2	1	1	3	3	3	3	4	0	1	2	4	0	2	7	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.1486C>A	p.Gln496Lys	p.Q496K	ENST00000285879	4/4	322	288	34	429	427	2	strelka-varscan-mutect	MAGEC1,missense_variant,p.Gln496Lys,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,;	A	ENST00000285879	Transcript	missense_variant	1772/4270	1486/3429	496/1142	Q/K	Cag/Aag		1		1	MAGEC1	HGNC	HGNC:6812	protein_coding	YES	CCDS35417.1	ENSP00000285879	O60732		UPI000006F2FD	NM_005462.4	deleterious_low_confidence(0.01)		4/4		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs918312137	.												A	3	1	29	141906890	141906890	C	A	1	0	0	0	0	1	0	0	0	9098	595	21	2		2	MAGEC1	23	141906890	Missense_Mutation	SNP	C	C3L-01924_TP	2365790	141906890	14134005	665	8980											
GABRA3	0	.	GRCh38	chrX	152255853	152255853	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcatgttatgagccactGatttcttgccattgtggaag	8	15	11	7	0	2	2	1	2	1	0	2	3	2	3	2	2	2	1	2	2	2	4	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.476C>A	p.Ser159Ter	p.S159*	ENST00000370314	5/10	387	364	23	468	468	0	strelka-varscan-mutect	GABRA3,stop_gained,p.Ser159Ter,ENST00000370314,NM_000808.3;GABRA3,stop_gained,p.Ser159Ter,ENST00000535043,;GABRA3,non_coding_transcript_exon_variant,,ENST00000417858,;	T	ENST00000370314	Transcript	stop_gained	715/3712	476/1479	159/492	S/*	tCa/tAa		1		-1	GABRA3	HGNC	HGNC:4077	protein_coding	YES	CCDS14706.1	ENSP00000359337	P34903		UPI000002D730	NM_000808.3			5/10		hmmpanther:PTHR18945:SF216,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932																	HIGH	1	SNV	1			1										PASS		rs1162760458	.												T	4	4	29	152255853	152255853	G	T	1	0	0	0	0	0	1	0	0	6033	1294	45	2		2	GABRA3	23	152255853	Nonsense_Mutation	SNP	G	C3L-01924_TP	10348963	152255853	3785042	666	8981											
GABRA3	0	.	GRCh38	chrX	152255967	152255967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtctttcatcatgccatGtctgccgaaaaaatacatca	13	12	5	11	1	6	0	4	0	2	0	6	1	6	0	2	0	3	0	2	0	4	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.362C>A	p.Thr121Lys	p.T121K	ENST00000370314	5/10	278	259	19	372	371	1	strelka-varscan-mutect	GABRA3,missense_variant,p.Thr121Lys,ENST00000370314,NM_000808.3;GABRA3,missense_variant,p.Thr121Lys,ENST00000535043,;GABRA3,non_coding_transcript_exon_variant,,ENST00000417858,;	T	ENST00000370314	Transcript	missense_variant	601/3712	362/1479	121/492	T/K	aCa/aAa		1		-1	GABRA3	HGNC	HGNC:4077	protein_coding	YES	CCDS14706.1	ENSP00000359337	P34903		UPI000002D730	NM_000808.3	tolerated(0.14)		5/10		hmmpanther:PTHR18945:SF216,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR00252																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	29	152255967	152255967	G	T	1	0	0	0	0	1	0	0	0	6033	1377	48	2		2	GABRA3	23	152255967	Missense_Mutation	SNP	G	C3L-01924_TP	114	152255967	3784928	667	8982											
MAGEA6	0	.	GRCh38	chrX	152766717	152766717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctcagactcactcttcccCctctctcaaagcccactcat	8	11	3	19	0	6	1	4	0	2	1	8	1	7	1	3	0	2	1	3	0	1	1	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.934G>T	p.Gly312Trp	p.G312W	ENST00000616035	3/3	108	100	8	128	128	0	varscan-mutect	MAGEA6,missense_variant,p.Gly312Trp,ENST00000616035,NM_175868.1;MAGEA6,missense_variant,p.Gly312Trp,ENST00000329342,NM_005363.2;MAGEA6,downstream_gene_variant,,ENST00000457643,;MAGEA6,downstream_gene_variant,,ENST00000412733,;	A	ENST00000616035	Transcript	missense_variant	1192/1762	934/945	312/314	G/W	Ggg/Tgg		1		-1	MAGEA6	HGNC	HGNC:6804	protein_coding	YES	CCDS76050.1	ENSP00000480637	P43360		UPI000000D9B0	NM_175868.1	deleterious(0)		3/3		hmmpanther:PTHR11736:SF60,hmmpanther:PTHR11736																	MODERATE	1	SNV	5			1										PASS		rs1285705665	.												A	3	1	29	152766717	152766717	C	A	1	0	0	0	0	1	0	0	0	9085	623	22	2		2	MAGEA6	23	152766717	Missense_Mutation	SNP	C	C3L-01924_TP	510750	152766717	3274178	668	8983											
PDZD4	0	.	GRCh38	chrX	153803603	153803603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccgctgctcacgggccCggatcaggtgctgcttccgc	3	9	13	16	4	2	0	2	0	0	0	4	1	4	1	3	3	3	5	3	3	0	2	novel		C3L-01924_TP	C3L-01924_NB	C	C																c.2078G>T	p.Arg693Leu	p.R693L	ENST00000393758	8/8	145	90	55	192	192	0	strelka-varscan-mutect	PDZD4,missense_variant,p.Arg693Leu,ENST00000393758,NM_001303515.1,NM_001303513.1,NM_001303512.1;PDZD4,missense_variant,p.Arg687Leu,ENST00000164640,NM_001303516.1,NM_032512.3;PDZD4,missense_variant,p.Arg578Leu,ENST00000544474,NM_001303514.1;PDZD4,downstream_gene_variant,,ENST00000475140,;PDZD4,downstream_gene_variant,,ENST00000483693,;PDZD4,downstream_gene_variant,,ENST00000484792,;PDZD4,downstream_gene_variant,,ENST00000468491,;PDZD4,downstream_gene_variant,,ENST00000480418,;PDZD4,downstream_gene_variant,,ENST00000480650,;	A	ENST00000393758	Transcript	missense_variant	2328/3763	2078/2328	693/775	R/L	cGg/cTg		1		-1	PDZD4	HGNC	HGNC:21167	protein_coding	YES	CCDS78518.1	ENSP00000377355		Q17RL8	UPI0000211CB2	NM_001303515.1,NM_001303513.1,NM_001303512.1	deleterious(0)		8/8		hmmpanther:PTHR15545,hmmpanther:PTHR15545:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	29	153803603	153803603	C	A	1	0	0	0	0	1	0	0	0	11791	652	23	1		1	PDZD4	23	153803603	Missense_Mutation	SNP	C	C3L-01924_TP	1036886	153803603	2237292	669	8984											
RENBP	0	.	GRCh38	chrX	153935514	153935514	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaggacctcccttgatggaGagggccaccttgccctctcg	8	8	11	14	1	1	2	0	1	1	1	3	4	2	3	5	3	1	0	5	3	1	2	novel		C3L-01924_TP	C3L-01924_NB	G	G																c.1140C>G	p.=	p.L380L	ENST00000393700	10/11	165	156	9	170	170	0	strelka-varscan-mutect	RENBP,synonymous_variant,p.=,ENST00000393700,NM_002910.5;RENBP,synonymous_variant,p.=,ENST00000369997,;RENBP,synonymous_variant,p.=,ENST00000451114,;NAA10,upstream_gene_variant,,ENST00000464845,NM_003491.3,NM_001256120.1;NAA10,upstream_gene_variant,,ENST00000370015,;NAA10,upstream_gene_variant,,ENST00000393712,;NAA10,upstream_gene_variant,,ENST00000370009,NM_001256119.1;NAA10,upstream_gene_variant,,ENST00000432089,;NAA10,upstream_gene_variant,,ENST00000370011,;NAA10,upstream_gene_variant,,ENST00000393710,;RENBP,3_prime_UTR_variant,,ENST00000423624,;RENBP,3_prime_UTR_variant,,ENST00000457282,;ARHGAP4,upstream_gene_variant,,ENST00000494813,;NAA10,upstream_gene_variant,,ENST00000466877,;NAA10,upstream_gene_variant,,ENST00000482485,;NAA10,upstream_gene_variant,,ENST00000477750,;NAA10,upstream_gene_variant,,ENST00000460996,;NAA10,upstream_gene_variant,,ENST00000484950,;RENBP,downstream_gene_variant,,ENST00000442361,;NAA10,upstream_gene_variant,,ENST00000477882,;NAA10,upstream_gene_variant,,ENST00000467451,;NAA10,upstream_gene_variant,,ENST00000478177,;NAA10,upstream_gene_variant,,ENST00000488481,;	C	ENST00000393700	Transcript	synonymous_variant	1221/1388	1140/1284	380/427	L	ctC/ctG		1		-1	RENBP	HGNC	HGNC:9959	protein_coding	YES	CCDS14738.2	ENSP00000377303	P51606		UPI0000E5B00C	NM_002910.5			10/11		Gene3D:1.50.10.10,Pfam_domain:PF07221,hmmpanther:PTHR15108,Superfamily_domains:SSF48208																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	29	153935514	153935514	G	C	1	0	0	0	0	0	0	0	1	13395	929	33	4		4	RENBP	23	153935514	Silent	SNP	G	C3L-01924_TP	131911	153935514	2105381	670	8985											
PLXNA3	0	.	GRCh38	chrX	154465145	154465145	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactatgagtgcgtggtgcGggtgcaggggcggcagcagc	7	6	20	8	3	0	1	0	1	0	0	0	2	0	1	0	5	6	3	0	5	2	1	rs367770095		C3L-01924_TP	C3L-01924_NB	G	G																c.2171G>C	p.Arg724Pro	p.R724P	ENST00000369682	11/33	273	253	20	241	241	0	strelka-varscan-mutect	PLXNA3,missense_variant,p.Arg724Pro,ENST00000369682,NM_017514.4;PLXNA3,upstream_gene_variant,,ENST00000493546,;PLXNA3,downstream_gene_variant,,ENST00000495040,;PLXNA3,upstream_gene_variant,,ENST00000467463,;PLXNA3,upstream_gene_variant,,ENST00000480645,;PLXNA3,upstream_gene_variant,,ENST00000491066,;PLXNA3,upstream_gene_variant,,ENST00000478236,;PLXNA3,downstream_gene_variant,,ENST00000482598,;	C	ENST00000369682	Transcript	missense_variant	2346/10885	2171/5616	724/1871	R/P	cGg/cCg	rs367770095	1		1	PLXNA3	HGNC	HGNC:9101	protein_coding	YES	CCDS14752.1	ENSP00000358696	P51805		UPI0002AB801F	NM_017514.4	deleterious(0.03)		11/33		Low_complexity_(Seg):seg,hmmpanther:PTHR22625:SF32,hmmpanther:PTHR22625																	MODERATE	1	SNV	1			1										PASS		rs367770095	.												C	3	2	29	154465145	154465145	G	C	1	0	0	0	0	1	0	0	0	12227	1116	39	4		4	PLXNA3	23	154465145	Missense_Mutation	SNP	G	C3L-01924_TP	529631	154465145	1575750	671	8986											
PKN2	0	.	GRCh38	chr1	88784716	88784716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaaaagcaacatcagttGcactgcctggttggagtcca	11	9	11	10	0	2	0	2	0	0	0	3	1	3	1	2	3	4	4	2	3	3	2	rs745647473		C3L-02219_TP	C3L-02219_NB	G	G																c.1063G>T	p.Ala355Ser	p.A355S	ENST00000370521	7/22	177	161	16	172	172	0	strelka-varscan-mutect	PKN2,missense_variant,p.Ala355Ser,ENST00000370521,NM_006256.2;PKN2,missense_variant,p.Ala355Ser,ENST00000370513,;PKN2,missense_variant,p.Ala355Ser,ENST00000316005,;PKN2,intron_variant,,ENST00000436111,;	T	ENST00000370521	Transcript	missense_variant	1422/6121	1063/2955	355/984	A/S	Gca/Tca	rs745647473	1		1	PKN2	HGNC	HGNC:9406	protein_coding	YES	CCDS714.1	ENSP00000359552	Q16513		UPI000004D291	NM_006256.2	tolerated(0.96)		7/22		hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF175,SMART_domains:SM00239																	MODERATE	1	SNV	1			1										PASS		rs745647473	.												T	3	4	30	88784716	88784716	G	T	1	0	0	0	0	1	0	0	0	12076	1319	46	2		2	PKN2	1	88784716	Missense_Mutation	SNP	G	C3L-02219_TP		88784716	160171706	1	8987											
RHBG	0	.	GRCh38	chr1	156384844	156384844	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggcagacactcaggcctAacccactgccagcccctgag	10	4	11	16	0	1	2	1	1	0	1	1	3	1	3	5	3	3	1	5	3	1	1	novel		C3L-02219_TP	C3L-02219_NB	A	A																c.1376A>T	p.Ter459LeuextTer6	p.*459Lext*6	ENST00000537040	10/10	93	85	8	111	111	0	strelka-varscan-mutect	RHBG,stop_lost,p.Ter459LeuextTer6,ENST00000537040,NM_001256395.1,NM_020407.4,NM_001256396.1;RP11-139I14.2,upstream_gene_variant,,ENST00000451362,;RHBG,non_coding_transcript_exon_variant,,ENST00000494874,;RHBG,3_prime_UTR_variant,,ENST00000620376,;RHBG,3_prime_UTR_variant,,ENST00000451864,;RHBG,3_prime_UTR_variant,,ENST00000613460,;RHBG,3_prime_UTR_variant,,ENST00000612897,;RHBG,non_coding_transcript_exon_variant,,ENST00000618120,;RHBG,downstream_gene_variant,,ENST00000622297,;	T	ENST00000537040	Transcript	stop_lost	1414/1789	1376/1377	459/458	*/L	tAa/tTa		1		1	RHBG	HGNC	HGNC:14572	protein_coding	YES		ENSP00000441197	Q9H310		UPI000004F267	NM_001256395.1,NM_020407.4,NM_001256396.1			10/10																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	30	156384844	156384844	A	T	1	0	0	0	0	0	0	0	0	13496	369	13	4		4	RHBG	1	156384844	Nonstop_Mutation	SNP	A	C3L-02219_TP	67600128	156384844	92571578	2	8988											
RFWD2	0	.	GRCh38	chr1	176175987	176175987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctattattgtcctccaaaCtctgatgaatacacttgtag	12	15	5	9	0	2	2	0	2	2	0	4	2	4	2	2	0	2	1	2	0	6	6	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.488G>A	p.Ser163Asn	p.S163N	ENST00000367669	3/20	145	132	13	160	159	1	strelka-varscan-mutect	RFWD2,missense_variant,p.Ser163Asn,ENST00000367669,NM_022457.6,NM_001286644.1;RFWD2,missense_variant,p.Ser163Asn,ENST00000308769,NM_001001740.3;RFWD2,missense_variant,p.Ser18Asn,ENST00000367666,;RFWD2,missense_variant,p.Ser22Asn,ENST00000498306,;RFWD2,missense_variant,p.Ser68Asn,ENST00000367667,;RFWD2,missense_variant,p.Ser22Asn,ENST00000491600,;RFWD2,intron_variant,,ENST00000474194,;	T	ENST00000367669	Transcript	missense_variant	1003/3033	488/2196	163/731	S/N	aGt/aAt		1		-1	RFWD2	HGNC	HGNC:17440	protein_coding	YES	CCDS30944.1	ENSP00000356641	Q8NHY2		UPI0000061E51	NM_022457.6,NM_001286644.1	tolerated(0.15)		3/20		PROSITE_profiles:PS50089,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF451,Pfam_domain:PF13923,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	176175987	176175987	C	T	1	0	0	0	0	1	0	0	0	13434	565	20	3		3	RFWD2	1	176175987	Missense_Mutation	SNP	C	C3L-02219_TP	19791143	176175987	72780435	3	8989											
SLC26A9	0	.	GRCh38	chr1	205932751	205932753	+	In_Frame_Del	DEL	GAA	GAA	-																															aagaagtaggtcaggaggggGaagaaggaggagtagaggcc																								novel		C3L-02219_TP	C3L-02219_NB	GAA	GAA																c.325_327delTTC	p.Phe109del	p.F109del	ENST00000367134	4/22	44	38	6	58	58	0	sindel-varindel-pindel	SLC26A9,inframe_deletion,p.Phe109del,ENST00000367135,NM_052934.3;SLC26A9,inframe_deletion,p.Phe109del,ENST00000367134,NM_134325.2;SLC26A9,inframe_deletion,p.Phe109del,ENST00000340781,;RP4-681L3.2,upstream_gene_variant,,ENST00000421166,;SLC26A9,upstream_gene_variant,,ENST00000491127,;SLC26A9,upstream_gene_variant,,ENST00000469392,;	-	ENST00000367134	Transcript	inframe_deletion	439-441/4616	325-327/2664	109/887	F/-	TTC/-		1		-1	SLC26A9	HGNC	HGNC:14469	protein_coding	YES	CCDS30989.1	ENSP00000356102	Q7LBE3		UPI000013DF98	NM_134325.2			4/22		Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF17,TIGRFAM_domain:TIGR00815,Transmembrane_helices:TMhelix																	MODERATE	1	deletion	5			1										PASS		.	.												-	7	5	30	205932751	205932751	GAA	-	1	0	1	0	1	0	0	0	0	14794	1165	41	0		0	SLC26A9	1	205932751	In_Frame_Del	DEL	GAA	C3L-02219_TP	29756764	205932751	43023671	4	8990											
DIEXF	0	.	GRCh38	chr1	209840922	209840922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcggatatcctcattgcttCccccctgggcttgaggacca	6	11	9	15	1	1	1	1	1	0	0	4	3	3	3	5	3	1	2	5	3	1	4	rs773562424		C3L-02219_TP	C3L-02219_NB	C	C																c.1352C>T	p.Ser451Phe	p.S451F	ENST00000491415	8/12	463	419	44	514	513	1	strelka-varscan-mutect	DIEXF,missense_variant,p.Ser451Phe,ENST00000491415,NM_014388.6;DIEXF,missense_variant,p.Ser132Phe,ENST00000457820,;	T	ENST00000491415	Transcript	missense_variant	1409/8446	1352/2271	451/756	S/F	tCc/tTc	rs773562424,COSM1240921,COSM3482940	1		1	DIEXF	HGNC	HGNC:28440	protein_coding	YES	CCDS1493.1	ENSP00000419005	Q68CQ4		UPI000006D987	NM_014388.6	deleterious(0)		8/12		Gene3D:3.40.50.300,Pfam_domain:PF06862,hmmpanther:PTHR12933,Superfamily_domains:SSF52540											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		.	.												T	3	4	30	209840922	209840922	C	T	1	0	0	0	0	1	0	0	0	4327	855	30	3		3	DIEXF	1	209840922	Missense_Mutation	SNP	C	C3L-02219_TP	3908171	209840922	39115500	5	8991											
KCNH1	0	.	GRCh38	chr1	210919714	210919714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgttcccaaagcccacaCtggtgaggctggtcattgtg	8	10	12	11	1	1	1	1	1	0	0	2	2	2	1	2	3	1	2	2	3	1	2			C3L-02219_TP	C3L-02219_NB	C	C																c.1388G>A	p.Ser463Asn	p.S463N	ENST00000271751	7/11	185	168	17	280	280	0	strelka-varscan-mutect	KCNH1,missense_variant,p.Ser463Asn,ENST00000271751,NM_172362.2;KCNH1,missense_variant,p.Ser436Asn,ENST00000367007,NM_002238.3;	T	ENST00000271751	Transcript	missense_variant	1416/7964	1388/2970	463/989	S/N	aGt/aAt	COSM4694313	1		-1	KCNH1	HGNC	HGNC:6250	protein_coding	YES	CCDS1496.1	ENSP00000271751	O95259		UPI000003230D	NM_172362.2	deleterious(0)		7/11		Transmembrane_helices:TMhelix,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF533,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR01463											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	30	210919714	210919714	C	T	1	0	0	0	0	1	0	0	0	7947	565	20	3		3	KCNH1	1	210919714	Missense_Mutation	SNP	C	C3L-02219_TP	1078792	210919714	38036708	6	8992											
CEP170	0	.	GRCh38	chr1	243191260	243191260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctaatagttaccttccctGgggtactgtcatcaaattca	10	14	6	11	0	4	0	3	0	1	0	5	0	5	0	2	2	2	2	2	2	5	6	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.866C>T	p.Pro289Leu	p.P289L	ENST00000366542	8/20	197	178	19	208	207	1	varscan-mutect	CEP170,missense_variant,p.Pro289Leu,ENST00000366542,NM_014812.2;CEP170,missense_variant,p.Pro289Leu,ENST00000366544,NM_001042404.1;CEP170,missense_variant,p.Pro289Leu,ENST00000366543,NM_001042405.1;CEP170,missense_variant,p.Pro191Leu,ENST00000336415,;CEP170,upstream_gene_variant,,ENST00000522895,;CEP170,upstream_gene_variant,,ENST00000461671,;CEP170,upstream_gene_variant,,ENST00000521911,;	A	ENST00000366542	Transcript	missense_variant	918/6828	866/4755	289/1584	P/L	cCa/cTa		1		-1	CEP170	HGNC	HGNC:28920	protein_coding	YES	CCDS44339.1	ENSP00000355500	Q5SW79		UPI0000470238	NM_014812.2	deleterious(0)		8/20		hmmpanther:PTHR15715:SF17,hmmpanther:PTHR15715																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	30	243191260	243191260	G	A	1	0	0	0	0	1	0	0	0	2964	1348	47	3		3	CEP170	1	243191260	Missense_Mutation	SNP	G	C3L-02219_TP	32271546	243191260	5765162	7	8993											
OR2C3	0	.	GRCh38	chr1	247531762	247531762	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgctcccgtaaaacagAgacaccacagccacgtggga	14	5	10	12	2	0	2	0	1	0	1	1	4	1	3	3	1	3	2	3	1	2	1	novel		C3L-02219_TP	C3L-02219_NB	A	A																c.750T>C	p.=	p.S250S	ENST00000366487	2/2	443	402	41	490	488	2	strelka-varscan-mutect	OR2C3,synonymous_variant,p.=,ENST00000366487,NM_198074.4;OR2C3,synonymous_variant,p.=,ENST00000617752,;GCSAML,intron_variant,,ENST00000366491,NM_001281834.1;GCSAML,intron_variant,,ENST00000536561,NM_001281853.1;GCSAML,intron_variant,,ENST00000366489,NM_001281835.1;GCSAML,intron_variant,,ENST00000623578,NM_001281837.1;GCSAML,intron_variant,,ENST00000463359,;GCSAML,intron_variant,,ENST00000527084,NM_001281836.1;GCSAML,intron_variant,,ENST00000527541,NM_001281838.1;GCSAML,intron_variant,,ENST00000529512,;GCSAML,intron_variant,,ENST00000526896,;GCSAML,intron_variant,,ENST00000531662,;	G	ENST00000366487	Transcript	synonymous_variant	1112/2742	750/963	250/320	S	tcT/tcC		1		-1	OR2C3	HGNC	HGNC:15005	protein_coding	YES	CCDS1634.2	ENSP00000355443	Q8N628		UPI0000061EBD	NM_198074.4			2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF117,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW		SNV				1										PASS		.	.												G	2	3	30	247531762	247531762	A	G	1	0	0	0	0	0	0	0	1	11072	291	11	5		5	OR2C3	1	247531762	Silent	SNP	A	C3L-02219_TP	4340502	247531762	1424660	8	8994											
DCDC2C	0	.	GRCh38	chr2	3752898	3752898	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggtgcccagtgaggtccaAcagtgagcatgcttcgtacc	9	8	13	11	1	0	2	0	2	0	0	2	2	1	2	3	2	5	3	3	2	2	2	novel		C3L-02219_TP	C3L-02219_NB	A	A																c.681A>T	p.Gln227His	p.Q227H	ENST00000399143	5/11	122	108	14	154	154	0	strelka-varscan-mutect	DCDC2C,missense_variant,p.Gln227His,ENST00000399143,NM_001287444.1;DCDC2C,missense_variant,p.Gln190His,ENST00000423741,;DCDC2C,intron_variant,,ENST00000537457,;	T	ENST00000399143	Transcript	missense_variant,splice_region_variant	841/1480	681/1095	227/364	Q/H	caA/caT		1		1	DCDC2C	HGNC	HGNC:32696	protein_coding	YES	CCDS74481.1	ENSP00000382097	A8MYV0		UPI0002742D44	NM_001287444.1	deleterious(0.03)		5/11		hmmpanther:PTHR23004:SF9,hmmpanther:PTHR23004,Superfamily_domains:SSF89837																	MODERATE	1	SNV	5			1										PASS		rs1004536359	.												T	3	4	30	3752898	3752898	A	T	1	0	0	0	0	1	0	0	0	4089	57	2	4		4	DCDC2C	2	3752898	Missense_Mutation	SNP	A	C3L-02219_TP		3752898	238440631	9	8995											
ROCK2	0	.	GRCh38	chr2	11197265	11197265	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgcaaggcttggagttgTgaccgcagctgctcaatgtc	9	11	12	9	1	1	1	1	1	0	0	2	2	1	2	1	2	3	6	1	2	3	3	novel		C3L-02219_TP	C3L-02219_NB	T	T																c.3363A>T	p.=	p.S1121S	ENST00000315872	27/33	233	210	23	276	276	0	strelka-varscan-mutect	ROCK2,synonymous_variant,p.=,ENST00000315872,NM_001321643.1,NM_004850.3;ROCK2,synonymous_variant,p.=,ENST00000616279,;ROCK2,synonymous_variant,p.=,ENST00000401753,;ROCK2,upstream_gene_variant,,ENST00000460262,;ROCK2,upstream_gene_variant,,ENST00000493096,;	A	ENST00000315872	Transcript	synonymous_variant	3812/8292	3363/4167	1121/1388	S	tcA/tcT		1		-1	ROCK2	HGNC	HGNC:10252	protein_coding	YES	CCDS42654.1	ENSP00000317985	O75116		UPI000034ECB0	NM_001321643.1,NM_004850.3			27/33		hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF28,PIRSF_domain:PIRSF037568																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	30	11197265	11197265	T	A	1	0	0	0	0	0	0	0	1	13696	1683	59	4		4	ROCK2	2	11197265	Silent	SNP	T	C3L-02219_TP	7444367	11197265	230996264	10	8996											
ST6GAL2	0	.	GRCh38	chr2	106806852	106806852	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtgcaggctgcgtcgtaGtacagctcgtggtagtggca	7	9	17	8	3	0	0	0	0	0	0	2	0	0	0	0	4	4	7	0	4	3	3			C3L-02219_TP	C3L-02219_NB	G	G																c.1416C>T	p.=	p.Y472Y	ENST00000409382	6/6	243	225	18	324	323	1	strelka-varscan	ST6GAL2,synonymous_variant,p.=,ENST00000409382,NM_001142351.1;ST6GAL2,synonymous_variant,p.=,ENST00000361686,NM_001322362.1,NM_032528.2;ST6GAL2,synonymous_variant,p.=,ENST00000361803,;	A	ENST00000409382	Transcript	synonymous_variant	2027/7275	1416/1590	472/529	Y	taC/taT	COSM1669194	1		-1	ST6GAL2	HGNC	HGNC:10861	protein_coding	YES	CCDS2073.1	ENSP00000386942	Q96JF0		UPI000007477B	NM_001142351.1			6/6		hmmpanther:PTHR13713:SF61,hmmpanther:PTHR13713,Pfam_domain:PF00777											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	30	106806852	106806852	G	A	1	0	0	0	0	0	0	0	1	15600	1024	36	3		3	ST6GAL2	2	106806852	Silent	SNP	G	C3L-02219_TP	95609587	106806852	135386677	11	8997											
GLI2	0	.	GRCh38	chr2	120988820	120988820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcggcggagccaggcgggCcagcgaccctgtgcggcggc	5	2	20	14	6	0	0	0	0	0	0	0	2	0	1	3	7	3	0	3	7	0	0	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.2906C>A	p.Ala969Asp	p.A969D	ENST00000452319	14/14	72	64	8	80	80	0	strelka-varscan	GLI2,missense_variant,p.Ala969Asp,ENST00000452319,;GLI2,missense_variant,p.Ala969Asp,ENST00000361492,NM_005270.4;GLI2,downstream_gene_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000438299,;GLI2,3_prime_UTR_variant,,ENST00000452692,;GLI2,downstream_gene_variant,,ENST00000437950,;	A	ENST00000452319	Transcript	missense_variant	2966/6799	2906/4761	969/1586	A/D	gCc/gAc		1		1	GLI2	HGNC	HGNC:4318	protein_coding	YES	CCDS33283.1	ENSP00000390436	P10070		UPI000053FCB4		deleterious(0)		14/14		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF73																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	30	120988820	120988820	C	A	1	0	0	0	0	1	0	0	0	6316	739	26	2		2	GLI2	2	120988820	Missense_Mutation	SNP	C	C3L-02219_TP	14181968	120988820	121204709	12	8998											
FARP2	0	.	GRCh38	chr2	241403843	241403843	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcctaaatgcgatggcCaggtattactgacacaagtg	13	8	10	10	1	0	1	0	1	0	0	0	2	0	1	2	2	3	1	2	2	5	3	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.199C>T	p.Gln67Ter	p.Q67*	ENST00000264042	3/27	151	111	40	238	238	0	strelka-varscan-mutect	FARP2,stop_gained,p.Gln67Ter,ENST00000264042,NM_014808.3;FARP2,stop_gained,p.Gln67Ter,ENST00000373287,NM_001282983.1;FARP2,stop_gained,p.Gln67Ter,ENST00000627550,NM_001282984.1;FARP2,stop_gained,p.Gln67Ter,ENST00000445489,;FARP2,stop_gained,p.Gln67Ter,ENST00000418082,;FARP2,non_coding_transcript_exon_variant,,ENST00000478489,;FARP2,non_coding_transcript_exon_variant,,ENST00000467260,;FARP2,non_coding_transcript_exon_variant,,ENST00000464142,;FARP2,non_coding_transcript_exon_variant,,ENST00000473082,;	T	ENST00000264042	Transcript	stop_gained	369/4051	199/3165	67/1054	Q/*	Cag/Tag		1		1	FARP2	HGNC	HGNC:16460	protein_coding	YES	CCDS33424.1	ENSP00000264042	O94887		UPI0000073D5B	NM_014808.3			3/27		Gene3D:3.10.20.90,Pfam_domain:PF09379,Prints_domain:PR00661,PROSITE_profiles:PS50057,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF58,SMART_domains:SM00295,Superfamily_domains:SSF54236																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	30	241403843	241403843	C	T	1	0	0	0	0	0	1	0	0	5537	595	21	3		3	FARP2	2	241403843	Nonsense_Mutation	SNP	C	C3L-02219_TP	120415023	241403843	789686	13	8999											
MAATS1	0	.	GRCh38	chr3	119707443	119707443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccatgttcagtaacctgAtccattatccaagatattct	14	13	4	10	0	2	2	1	1	1	1	4	2	4	2	4	0	2	2	4	0	5	5	novel		C3L-02219_TP	C3L-02219_NB	A	A																c.241A>G	p.Ile81Val	p.I81V	ENST00000273390	3/18	66	60	6	77	77	0	strelka-varscan-mutect	MAATS1,missense_variant,p.Ile81Val,ENST00000273390,NM_001320318.1,NM_001320316.1,NM_033364.3;MAATS1,missense_variant,p.Ile81Val,ENST00000463700,;MAATS1,3_prime_UTR_variant,,ENST00000482573,NM_001320318.1,NM_001320317.1;MAATS1,3_prime_UTR_variant,,ENST00000482927,;MAATS1,non_coding_transcript_exon_variant,,ENST00000483134,;MAATS1,non_coding_transcript_exon_variant,,ENST00000468630,;MAATS1,non_coding_transcript_exon_variant,,ENST00000469659,;MAATS1,intron_variant,,ENST00000475093,;MAATS1,upstream_gene_variant,,ENST00000498167,;MAATS1,downstream_gene_variant,,ENST00000488533,;	G	ENST00000273390	Transcript	missense_variant	318/4433	241/2304	81/767	I/V	Atc/Gtc		1		1	MAATS1	HGNC	HGNC:24010	protein_coding	YES	CCDS2994.1	ENSP00000273390	Q7Z4T9		UPI00001C1DFE	NM_001320318.1,NM_001320316.1,NM_033364.3	tolerated(0.57)		3/18		hmmpanther:PTHR22455,hmmpanther:PTHR22455:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	30	119707443	119707443	A	G	1	0	0	0	0	1	0	0	0	9055	333	12	5		5	MAATS1	3	119707443	Missense_Mutation	SNP	A	C3L-02219_TP		119707443	78588116	14	9000											
KIAA1211	0	.	GRCh38	chr4	56314271	56314271	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagaggctgcaggcgctgGagaggaggctttgggaagag	10	5	20	6	1	0	3	0	0	0	3	0	6	0	5	0	6	2	5	0	6	1	1	rs772735246		C3L-02219_TP	C3L-02219_NB	G	G																c.769G>T	p.Glu257Ter	p.E257*	ENST00000504228	6/9	275	245	30	357	356	1	strelka-varscan-mutect	KIAA1211,stop_gained,p.Glu257Ter,ENST00000504228,;KIAA1211,stop_gained,p.Glu250Ter,ENST00000541073,;KIAA1211,stop_gained,p.Glu257Ter,ENST00000264229,NM_020722.1;KIAA1211,stop_gained,p.Glu257Ter,ENST00000636006,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;	T	ENST00000504228	Transcript	stop_gained	874/4628	769/3702	257/1233	E/*	Gag/Tag	rs772735246	1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309				6/9		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil																	HIGH	1	SNV	5			1										PASS		rs772735246	.												T	4	4	30	56314271	56314271	G	T	1	0	0	0	0	0	1	0	0	8107	1175	41	2		2	KIAA1211	4	56314271	Nonsense_Mutation	SNP	G	C3L-02219_TP		56314271	133900284	15	9001											
FBXW7	0	.	GRCh38	chr4	152346953	152346955	+	In_Frame_Del	DEL	GGA	GGA	-																															aaacatttttagccattcctGgaggcctgtaggtggctgga																								novel		C3L-02219_TP	C3L-02219_NB	GGA	GGA																c.701_703delTCC	p.Leu234del	p.L234del	ENST00000281708	4/12	130	115	15	167	167	0	sindel-varindel-pindel	FBXW7,inframe_deletion,p.Leu234del,ENST00000281708,NM_033632.3;FBXW7,inframe_deletion,p.Leu154del,ENST00000263981,NM_018315.4;FBXW7,inframe_deletion,p.Leu116del,ENST00000296555,NM_001013415.1;FBXW7,inframe_deletion,p.Leu234del,ENST00000603548,;FBXW7,inframe_deletion,p.Leu234del,ENST00000603841,;FBXW7,inframe_deletion,p.Leu58del,ENST00000393956,;FBXW7,non_coding_transcript_exon_variant,,ENST00000604822,;	-	ENST00000281708	Transcript	inframe_deletion	1931-1933/4976	701-703/2124	234-235/707	LQ/Q	cTCCag/cag		1		-1	FBXW7	HGNC	HGNC:16712	protein_coding	YES	CCDS3777.1	ENSP00000281708	Q969H0		UPI000007007E	NM_033632.3			4/12		hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF217																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	30	152346953	152346953	GGA	-	1	0	1	0	1	0	0	0	0	5632	1357	47	0		0	FBXW7	4	152346953	In_Frame_Del	DEL	GGA	C3L-02219_TP	96032682	152346953	37867602	16	9002											
NPR3	0	.	GRCh38	chr5	32711837	32711837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactcggctgggcgttgctgGccggcggcaccggtggcggt	2	8	19	12	6	0	0	0	0	0	0	1	0	0	0	2	8	2	4	2	8	1	2	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.61G>T	p.Ala21Ser	p.A21S	ENST00000265074	1/8	48	43	5	39	39	0	strelka-mutect	NPR3,missense_variant,p.Ala21Ser,ENST00000265074,NM_001204375.1;NPR3,missense_variant,p.Ala21Ser,ENST00000415167,NM_000908.3;NPR3,intron_variant,,ENST00000326958,NM_001204376.1;NPR3,intron_variant,,ENST00000434067,;NPR3,intron_variant,,ENST00000509104,;NPR3,upstream_gene_variant,,ENST00000507141,;NPR3,intron_variant,,ENST00000506712,;	T	ENST00000265074	Transcript	missense_variant	404/7344	61/1626	21/541	A/S	Gcc/Tcc		1		1	NPR3	HGNC	HGNC:7945	protein_coding	YES	CCDS56357.1	ENSP00000265074	P17342		UPI0000125B46	NM_001204375.1	tolerated_low_confidence(0.08)		1/8		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11920:SF302,hmmpanther:PTHR11920																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	32711837	32711837	G	T	1	0	0	0	0	1	0	0	0	10652	1203	42	2		2	NPR3	5	32711837	Missense_Mutation	SNP	G	C3L-02219_TP		32711837	148826422	17	9003											
ANKHD1	0	.	GRCh38	chr5	140526260	140526260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagaacctagaggtggtgGtgcaggtgggaatagtgatt	10	10	18	3	0	0	3	0	1	0	2	0	5	0	4	1	6	2	1	1	6	4	3	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.4757G>T	p.Gly1586Val	p.G1586V	ENST00000532219	26/36	364	298	66	418	418	0	strelka-varscan-mutect	ANKHD1-EIF4EBP3,missense_variant,p.Gly1586Val,ENST00000532219,NM_020690.5;ANKHD1,missense_variant,p.Gly1586Val,ENST00000360839,NM_017747.2;ANKHD1,missense_variant,p.Gly242Val,ENST00000431508,;ANKHD1,missense_variant,p.Gly108Val,ENST00000433049,;ANKHD1,missense_variant,p.Gly77Val,ENST00000435794,;ANKHD1,missense_variant,p.Gly37Val,ENST00000432301,;ANKHD1,5_prime_UTR_variant,,ENST00000297183,;ANKHD1,downstream_gene_variant,,ENST00000421134,;ANKHD1-EIF4EBP3,upstream_gene_variant,,ENST00000437495,;ANKHD1,downstream_gene_variant,,ENST00000246149,;ANKHD1,downstream_gene_variant,,ENST00000412116,;SNORD45,downstream_gene_variant,,ENST00000363181,;ANKHD1-EIF4EBP3,upstream_gene_variant,,ENST00000474060,;ANKHD1,upstream_gene_variant,,ENST00000475148,;	T	ENST00000532219	Transcript	missense_variant	4817/8246	4757/7854	1586/2617	G/V	gGt/gTt		1		1	ANKHD1-EIF4EBP3	HGNC	HGNC:33530	protein_coding	YES	CCDS4224.1	ENSP00000432016			UPI0000074448	NM_020690.5	tolerated_low_confidence(0.27)		26/36		Low_complexity_(Seg):seg,hmmpanther:PTHR23206:SF5,hmmpanther:PTHR23206																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	30	140526260	140526260	G	T	1	0	0	0	0	1	0	0	0	730	1261	44	2		2	ANKHD1	5	140526260	Missense_Mutation	SNP	G	C3L-02219_TP	107814423	140526260	41011999	18	9004											
PCDHA6	0	.	GRCh38	chr5	140828854	140828854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtaagaatattcgaaaatGcagacaacggaacaacagtt	20	7	8	6	2	0	2	0	0	0	2	1	4	0	3	0	1	4	3	0	1	9	4	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.763G>A	p.Ala255Thr	p.A255T	ENST00000529310	1/4	303	273	30	399	399	0	strelka-varscan-mutect	PCDHA6,missense_variant,p.Ala255Thr,ENST00000529310,NM_018909.3;PCDHA6,missense_variant,p.Ala255Thr,ENST00000378126,NM_031848.2;PCDHA6,missense_variant,p.Ala255Thr,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA5,downstream_gene_variant,,ENST00000614258,NM_031501.1;	A	ENST00000529310	Transcript	missense_variant	877/5374	763/2853	255/950	A/T	Gca/Aca		1		1	PCDHA6	HGNC	HGNC:8672	protein_coding	YES	CCDS47281.1	ENSP00000433378	Q9UN73		UPI00001273CE	NM_018909.3	tolerated_low_confidence(0.47)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF131,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	30	140828854	140828854	G	A	1	0	0	0	0	1	0	0	0	11615	1319	46	3		3	PCDHA6	5	140828854	Missense_Mutation	SNP	G	C3L-02219_TP	302594	140828854	40709405	19	9005											
ID4	0	.	GRCh38	chr6	19837955	19837955	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgctgtgcctgcagtgcgaTatgaacgactgctatagccg	8	9	13	11	4	0	1	0	1	0	0	0	3	0	1	2	0	6	3	2	0	4	3	novel		C3L-02219_TP	C3L-02219_NB	T	T																c.201T>C	p.=	p.D67D	ENST00000378700	1/3	195	160	35	213	213	0	strelka-varscan-mutect	ID4,synonymous_variant,p.=,ENST00000378700,NM_001546.3;RP4-625H18.2,intron_variant,,ENST00000432171,;	C	ENST00000378700	Transcript	synonymous_variant	570/2344	201/486	67/161	D	gaT/gaC		1		1	ID4	HGNC	HGNC:5363	protein_coding	YES	CCDS4544.1	ENSP00000367972	P47928		UPI000012D193	NM_001546.3			1/3		Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR11723,hmmpanther:PTHR11723:SF6,SMART_domains:SM00353,Superfamily_domains:SSF47459																	LOW	1	SNV	1			1										PASS		rs1162203947	.												C	2	2	30	19837955	19837955	T	C	1	0	0	0	0	0	0	0	1	7392	1403	49	5		5	ID4	6	19837955	Silent	SNP	T	C3L-02219_TP		19837955	150968024	20	9006											
UHRF1BP1	0	.	GRCh38	chr6	34858352	34858352	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccttctgcacatgctttttTtgcatcatgcctttcagatg	6	17	7	11	0	3	1	2	0	1	1	3	1	3	1	2	0	4	3	2	0	0	5	novel		C3L-02219_TP	C3L-02219_NB	T	T																c.1996T>A	p.Leu666Met	p.L666M	ENST00000192788	14/21	366	308	58	457	457	0	strelka-varscan-mutect	UHRF1BP1,missense_variant,p.Leu666Met,ENST00000192788,NM_017754.3;UHRF1BP1,missense_variant,p.Leu666Met,ENST00000452449,;	A	ENST00000192788	Transcript	missense_variant	2167/9570	1996/4323	666/1440	L/M	Ttg/Atg		1		1	UHRF1BP1	HGNC	HGNC:21216	protein_coding	YES	CCDS43455.1	ENSP00000192788	Q6BDS2		UPI00001B654C	NM_017754.3	tolerated(0.07)		14/21		hmmpanther:PTHR22774,hmmpanther:PTHR22774:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	30	34858352	34858352	T	A	1	0	0	0	0	1	0	0	0	17492	1838	64	4		4	UHRF1BP1	6	34858352	Missense_Mutation	SNP	T	C3L-02219_TP	15020397	34858352	135947627	21	9007											
IMPG1	0	.	GRCh38	chr6	75950590	75950590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaattgttgctccagagctCggtactccagagagctcttg	8	12	11	10	1	1	3	0	1	1	2	4	4	3	3	2	1	4	5	2	1	2	4	rs368049446		C3L-02219_TP	C3L-02219_NB	C	C																c.1796G>A	p.Arg599Gln	p.R599Q	ENST00000369950	13/17	117	106	11	126	126	0	strelka-varscan	IMPG1,missense_variant,p.Arg599Gln,ENST00000369950,NM_001563.3;IMPG1,missense_variant,p.Arg521Gln,ENST00000611179,NM_001282368.1;	T	ENST00000369950	Transcript	missense_variant	1986/3558	1796/2394	599/797	R/Q	cGa/cAa	rs368049446	1		-1	IMPG1	HGNC	HGNC:6055	protein_coding	YES	CCDS4985.1	ENSP00000358966	Q17R60		UPI0000073F12	NM_001563.3	tolerated(1)		13/17		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR12199,SMART_domains:SM00200																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	75950590	75950590	C	T	1	0	0	0	0	1	0	0	0	7630	884	31	1		1	IMPG1	6	75950590	Missense_Mutation	SNP	C	C3L-02219_TP	41092238	75950590	94855389	22	9008											
ELOVL4	0	.	GRCh38	chr6	79921651	79921651	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcctgcaacccacttaattCcaatccaccacaaggtaaac	14	8	3	16	0	0	0	0	0	0	0	3	0	3	0	5	1	3	2	5	1	6	3			C3L-02219_TP	C3L-02219_NB	C	C																c.515G>C	p.Gly172Ala	p.G172A	ENST00000369816	4/6	426	400	26	447	447	0	strelka-varscan	ELOVL4,missense_variant,p.Gly172Ala,ENST00000369816,NM_022726.3;	G	ENST00000369816	Transcript	missense_variant	816/3042	515/945	172/314	G/A	gGa/gCa	COSM5061960	1		-1	ELOVL4	HGNC	HGNC:14415	protein_coding	YES	CCDS4992.1	ENSP00000358831	Q9GZR5		UPI0000049DA1	NM_022726.3	deleterious(0)		4/6		Pfam_domain:PF01151,hmmpanther:PTHR11157,hmmpanther:PTHR11157:SF45,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	30	79921651	79921651	C	G	1	0	0	0	0	1	0	0	0	4911	855	30	4		4	ELOVL4	6	79921651	Missense_Mutation	SNP	C	C3L-02219_TP	3971061	79921651	90884328	23	9009											
CNR1	0	.	GRCh38	chr6	88143945	88143945	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagctttctgcggcccTgtgaacactggctgcattgt	6	12	12	11	1	1	1	0	1	1	0	1	2	1	1	1	2	5	4	1	2	1	2	rs750464422		C3L-02219_TP	C3L-02219_NB	T	T																c.1330A>T	p.Arg444Trp	p.R444W	ENST00000369501	2/2	266	228	38	290	290	0	strelka-varscan-mutect	CNR1,missense_variant,p.Arg444Trp,ENST00000369501,NM_016083.4,NM_001160226.1,NM_001160258.1,NM_001160259.1;CNR1,missense_variant,p.Arg444Trp,ENST00000369499,;CNR1,missense_variant,p.Arg444Trp,ENST00000549890,;CNR1,missense_variant,p.Arg444Trp,ENST00000428600,;CNR1,missense_variant,p.Arg411Trp,ENST00000468898,NM_033181.3;CNR1,3_prime_UTR_variant,,ENST00000362094,;CNR1,downstream_gene_variant,,ENST00000551417,;	A	ENST00000369501	Transcript	missense_variant	1950/6031	1330/1419	444/472	R/W	Agg/Tgg	rs750464422	1		-1	CNR1	HGNC	HGNC:2159	protein_coding	YES	CCDS5015.1	ENSP00000358513	P21554	S5TLS4	UPI00000008AA	NM_016083.4,NM_001160226.1,NM_001160258.1,NM_001160259.1	deleterious(0)		2/2		hmmpanther:PTHR22750:SF47,hmmpanther:PTHR22750,PIRSF_domain:PIRSF037995,Prints_domain:PR00522																	MODERATE	1	SNV	1			1										PASS		rs750464422	.												A	3	1	30	88143945	88143945	T	A	1	0	0	0	0	1	0	0	0	3413	1579	55	4		4	CNR1	6	88143945	Missense_Mutation	SNP	T	C3L-02219_TP	8222294	88143945	82662034	24	9010											
HEY2	0	.	GRCh38	chr6	125759572	125759572	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctcttgtccctctctGccaccgtccacgccgcagcc	3	10	6	22	3	3	0	0	0	3	0	7	0	5	0	7	0	2	1	7	0	0	1	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.784G>C	p.Ala262Pro	p.A262P	ENST00000368364	5/5	149	137	12	168	168	0	strelka-varscan-mutect	HEY2,missense_variant,p.Ala262Pro,ENST00000368364,NM_012259.2;HEY2,missense_variant,p.Ala216Pro,ENST00000368365,;	C	ENST00000368364	Transcript	missense_variant	981/2678	784/1014	262/337	A/P	Gcc/Ccc		1		1	HEY2	HGNC	HGNC:4881	protein_coding	YES	CCDS5131.1	ENSP00000357348	Q9UBP5		UPI0000037AFE	NM_012259.2	tolerated(0.37)		5/5		hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF88,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	30	125759572	125759572	G	C	1	0	0	0	0	1	0	0	0	6963	1319	46	4		4	HEY2	6	125759572	Missense_Mutation	SNP	G	C3L-02219_TP	37615627	125759572	45046407	25	9011											
ARID1B	0	.	GRCh38	chr6	157148624	157148624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgtttgctttttgtttagGtaactactccagacccccag	7	16	8	10	0	0	1	0	0	0	1	1	1	1	1	3	1	3	4	3	1	3	7	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.2552G>T	p.Gly851Val	p.G851V	ENST00000346085	9/20	47	42	5	63	63	0	varscan-mutect	ARID1B,missense_variant,p.Gly851Val,ENST00000346085,NM_020732.3;ARID1B,missense_variant,p.Gly838Val,ENST00000636930,;ARID1B,missense_variant,p.Gly838Val,ENST00000350026,NM_017519.2;ARID1B,missense_variant,p.Gly307Val,ENST00000414678,;ARID1B,missense_variant,p.Gly88Val,ENST00000637904,;ARID1B,missense_variant,p.Gly28Val,ENST00000635849,;ARID1B,missense_variant,p.Gly88Val,ENST00000637810,;ARID1B,missense_variant,p.Gly259Val,ENST00000319584,;ARID1B,coding_sequence_variant,p.=,ENST00000637015,;ARID1B,upstream_gene_variant,,ENST00000635957,;ARID1B,upstream_gene_variant,,ENST00000400790,;ARID1B,splice_region_variant,,ENST00000452544,;ARID1B,upstream_gene_variant,,ENST00000637568,;ARID1B,upstream_gene_variant,,ENST00000636426,;	T	ENST00000346085	Transcript	missense_variant,splice_region_variant	3108/10194	2552/6750	851/2249	G/V	gGt/gTt		1		1	ARID1B	HGNC	HGNC:18040	protein_coding	YES	CCDS55072.1	ENSP00000344546	Q8NFD5		UPI000058E4B2	NM_020732.3	deleterious_low_confidence(0.04)		9/20		hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	157148624	157148624	G	T	1	0	0	0	0	1	0	0	0	1050	1275	44	2		2	ARID1B	6	157148624	Missense_Mutation	SNP	G	C3L-02219_TP	31389052	157148624	13657355	26	9012											
IGF2R	0	.	GRCh38	chr6	160048380	160048380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgaaattttagtctggCaaaatctgaaggtggccttg	10	14	11	6	0	2	2	0	2	2	0	2	2	2	2	1	3	0	2	1	3	5	4	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.2351C>T	p.Ala784Val	p.A784V	ENST00000356956	18/48	438	374	64	532	532	0	strelka-varscan-mutect	IGF2R,missense_variant,p.Ala784Val,ENST00000356956,NM_000876.2;	T	ENST00000356956	Transcript	missense_variant	2499/14044	2351/7476	784/2491	A/V	gCa/gTa		1		1	IGF2R	HGNC	HGNC:5467	protein_coding	YES	CCDS5273.1	ENSP00000349437	P11717		UPI0000072478	NM_000876.2	tolerated(0.14)		18/48		Gene3D:2.70.130.10,Pfam_domain:PF00878,hmmpanther:PTHR15071,hmmpanther:PTHR15071:SF5,SMART_domains:SM01404,Superfamily_domains:SSF50911																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	160048380	160048380	C	T	1	0	0	0	0	1	0	0	0	7482	724	25	3		3	IGF2R	6	160048380	Missense_Mutation	SNP	C	C3L-02219_TP	2899756	160048380	10757599	27	9013											
DLL1	0	.	GRCh38	chr6	170285610	170285610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagccttcctggcagttgCactgccagggctgctggcag	5	8	13	15	0	0	0	0	0	0	0	1	0	1	0	4	3	4	6	4	3	0	2	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.821G>A	p.Cys274Tyr	p.C274Y	ENST00000366756	6/11	360	336	24	404	404	0	strelka-varscan-mutect	DLL1,missense_variant,p.Cys274Tyr,ENST00000366756,NM_005618.3;DLL1,downstream_gene_variant,,ENST00000630500,;	T	ENST00000366756	Transcript	missense_variant	1155/3174	821/2172	274/723	C/Y	tGc/tAc		1		-1	DLL1	HGNC	HGNC:2908	protein_coding	YES	CCDS5313.1	ENSP00000355718	O00548		UPI000004C656	NM_005618.3	deleterious(0)		6/11		Gene3D:2gy5A03,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF283,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	170285610	170285610	C	T	1	0	0	0	0	1	0	0	0	4373	710	25	3		3	DLL1	6	170285610	Missense_Mutation	SNP	C	C3L-02219_TP	10237230	170285610	520369	28	9014											
FERD3L	0	.	GRCh38	chr7	19144934	19144934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atatagacgatggccaggcgGagggtctcgatccgggacag	10	6	16	9	4	1	1	0	0	1	1	3	5	2	3	2	5	0	0	2	5	2	2	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.429C>T	p.=	p.L143L	ENST00000275461	1/1	253	178	75	259	259	0	strelka-varscan-mutect	FERD3L,synonymous_variant,p.=,ENST00000275461,NM_152898.2;AC003986.5,non_coding_transcript_exon_variant,,ENST00000452700,;	A	ENST00000275461	Transcript	synonymous_variant	488/640	429/501	143/166	L	ctC/ctT		1		-1	FERD3L	HGNC	HGNC:16660	protein_coding	YES	CCDS5368.1	ENSP00000275461	Q96RJ6		UPI0000073BBA	NM_152898.2			1/1		PROSITE_profiles:PS50888,hmmpanther:PTHR23349:SF63,hmmpanther:PTHR23349,Pfam_domain:PF00010,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459																	LOW		SNV				1										PASS		.	.												A	2	1	30	19144934	19144934	G	A	1	0	0	0	0	0	0	0	1	5679	1161	41	3		3	FERD3L	7	19144934	Silent	SNP	G	C3L-02219_TP		19144934	140201039	29	9015											
EGFR	0	.	GRCh38	chr7	55191821	55191821	+	Missense_Mutation	SNP	C	C	A																															tcaagatcacagattttgggCtggccaaactgctgggtgcg																								rs121913443		C3L-02219_TP	C3L-02219_NB	C	C																c.2572C>A	p.Leu858Met	p.L858M	ENST00000275493	21/28	661	582	79	537	536	1	strelka-varscan	EGFR,missense_variant,p.Leu858Met,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Met,ENST00000454757,;EGFR,missense_variant,p.Leu813Met,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	A	ENST00000275493	Transcript	missense_variant	2749/9821	2572/3633	858/1210	L/M	Ctg/Atg	rs121913443,COSM12366,COSM26129	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										uncertain_significance,likely_benign	0,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	30	55191821	55191821	C	A	1	0	0	0	0	1	0	0	0	4803	796	28	2		2	EGFR	7	55191821	Missense_Mutation	SNP	C	C3L-02219_TP	36046887	55191821	104154152	30	9016	205	2									
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G																															caagatcacagattttgggcTggccaaactgctgggtgcgg																								rs121434568		C3L-02219_TP	C3L-02219_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	661	582	79	537	537	0	strelka-varscan	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												G	3	3	30	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3L-02219_TP	1	55191822	104154151	31	9017	205	2									
MUC17	0	.	GRCh38	chr7	101038603	101038603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacttatagtgaaggaaGcactccactaacaagtgtgc	14	9	8	10	0	1	1	1	1	0	0	2	2	2	2	1	1	4	1	1	1	7	3	rs767302410		C3L-02219_TP	C3L-02219_NB	G	G																c.7187G>T	p.Ser2396Ile	p.S2396I	ENST00000306151	3/13	145	129	16	278	278	0	strelka-varscan-mutect	MUC17,missense_variant,p.Ser2396Ile,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ser2396Ile,ENST00000379439,;	T	ENST00000306151	Transcript	missense_variant	7251/14247	7187/13482	2396/4493	S/I	aGc/aTc	rs767302410	1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	deleterious(0)		3/13		Low_complexity_(Seg):seg,hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		rs767302410	.												T	3	4	30	101038603	101038603	G	T	1	0	0	0	0	1	0	0	0	9973	971	34	2		2	MUC17	7	101038603	Missense_Mutation	SNP	G	C3L-02219_TP	45846781	101038603	58307370	32	9018											
PRSS2	0	.	GRCh38	chr7	142772179	142772179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccctcatcagcgaacagtgGgtggtgtcagcaggtcactg	8	9	13	11	1	4	0	4	0	0	0	5	1	5	0	1	3	3	1	1	3	1	0	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.171G>T	p.Trp57Cys	p.W57C	ENST00000633969	2/6	223	188	35	340	340	0	strelka-varscan-mutect	PRSS2,missense_variant,p.Trp57Cys,ENST00000633969,NM_001303414.1;PRSS2,missense_variant,p.Trp57Cys,ENST00000632998,;PRSS2,missense_variant,p.Trp57Cys,ENST00000632805,;PRSS2,missense_variant,p.Trp57Cys,ENST00000539842,NM_002770.3;TRBC2,intron_variant,,ENST00000637077,;TRBC2,intron_variant,,ENST00000610416,;TRBC2,intron_variant,,ENST00000636844,;PRSS2,non_coding_transcript_exon_variant,,ENST00000618750,;PRSS2,non_coding_transcript_exon_variant,,ENST00000610835,;	T	ENST00000633969	Transcript	missense_variant	187/852	171/786	57/261	W/C	tgG/tgT		1		1	PRSS2	HGNC	HGNC:9483	protein_coding	YES		ENSP00000488437		A6XMV9	UPI0001578AE2	NM_001303414.1	deleterious(0.02)		2/6		PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF21,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722																	MODERATE	1	SNV	1			1										PASS		rs1388816308	.												T	3	4	30	142772179	142772179	G	T	1	0	0	0	0	1	0	0	0	12764	1241	43	2		2	PRSS2	7	142772179	Missense_Mutation	SNP	G	C3L-02219_TP	41733576	142772179	16573794	33	9019											
PLAT	0	.	GRCh38	chr8	42182827	42182827	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggaggcaggaggcacccGactcggtgaggctgtgcgtg	7	5	19	10	4	0	1	0	1	0	0	1	4	0	3	1	6	1	3	1	6	0	0	rs758349613		C3L-02219_TP	C3L-02219_NB	G	G																c.695C>A	p.Ser232Ter	p.S232*	ENST00000220809	8/14	171	152	19	205	205	0	strelka-varscan-mutect	PLAT,stop_gained,p.Ser232Ter,ENST00000220809,NM_000930.3;PLAT,stop_gained,p.Ser232Ter,ENST00000429089,;PLAT,stop_gained,p.Ser186Ter,ENST00000352041,NM_033011.2;PLAT,stop_gained,p.Ser169Ter,ENST00000519510,;PLAT,stop_gained,p.Ser106Ter,ENST00000429710,;PLAT,stop_gained,p.Ser143Ter,ENST00000524009,;PLAT,downstream_gene_variant,,ENST00000520523,;PLAT,downstream_gene_variant,,ENST00000521694,;PLAT,non_coding_transcript_exon_variant,,ENST00000524261,;PLAT,intron_variant,,ENST00000521042,;PLAT,downstream_gene_variant,,ENST00000521647,;PLAT,upstream_gene_variant,,ENST00000522812,;	T	ENST00000220809	Transcript	stop_gained	952/2706	695/1689	232/562	S/*	tCg/tAg	rs758349613	1		-1	PLAT	HGNC	HGNC:9051	protein_coding	YES	CCDS6126.1	ENSP00000220809	P00750		UPI0000000DD4	NM_000930.3			8/14		Gene3D:2.40.20.10,Pfam_domain:PF00051,PIRSF_domain:PIRSF001145,Prints_domain:PR00018,PROSITE_profiles:PS50070,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF142,SMART_domains:SM00130,Superfamily_domains:SSF57440																	HIGH	1	SNV	1			1										PASS		rs758349613	.												T	4	4	30	42182827	42182827	G	T	1	0	0	0	0	0	1	0	0	12115	1059	37	1		1	PLAT	8	42182827	Nonsense_Mutation	SNP	G	C3L-02219_TP		42182827	102955809	34	9020											
SNTG1	0	.	GRCh38	chr8	50792788	50792788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctactgcttctactgctGccagctctgctaccacgagc	8	10	8	15	1	2	0	0	0	2	0	2	1	2	0	2	0	10	5	2	0	4	4	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.1513G>T	p.Ala505Ser	p.A505S	ENST00000522124	19/19	147	136	11	186	186	0	strelka-varscan-mutect	SNTG1,missense_variant,p.Ala505Ser,ENST00000522124,NM_018967.3;SNTG1,missense_variant,p.Ala505Ser,ENST00000518864,NM_001287813.1;SNTG1,missense_variant,p.Ala468Ser,ENST00000517473,NM_001287814.1;SNTG1,3_prime_UTR_variant,,ENST00000520825,;	T	ENST00000522124	Transcript	missense_variant	2174/3504	1513/1554	505/517	A/S	Gcc/Tcc		1		1	SNTG1	HGNC	HGNC:13740	protein_coding	YES	CCDS6147.1	ENSP00000429842	Q9NSN8	A0A024R7Y0	UPI000004A0DD	NM_018967.3	tolerated_low_confidence(0.7)		19/19		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	50792788	50792788	G	T	1	0	0	0	0	1	0	0	0	15194	1319	46	2		2	SNTG1	8	50792788	Missense_Mutation	SNP	G	C3L-02219_TP	8609961	50792788	94345848	35	9021											
PXDNL	0	.	GRCh38	chr8	51339722	51339722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaactgtcacatttctagCatcttcacccacatatattt	12	14	3	12	0	4	1	2	0	2	1	4	1	4	1	1	0	2	1	1	0	4	6	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.4048G>T	p.Ala1350Ser	p.A1350S	ENST00000356297	21/23	184	156	28	245	245	0	strelka-varscan-mutect	PXDNL,missense_variant,p.Ala1350Ser,ENST00000356297,NM_144651.4;PXDNL,missense_variant,p.Ala424Ser,ENST00000522933,;PXDNL,non_coding_transcript_exon_variant,,ENST00000519183,;PXDNL,intron_variant,,ENST00000522628,;	A	ENST00000356297	Transcript	missense_variant	4149/4805	4048/4392	1350/1463	A/S	Gct/Tct		1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4	tolerated(0.8)		21/23																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	30	51339722	51339722	C	A	1	0	0	0	0	1	0	0	0	13002	710	25	2		2	PXDNL	8	51339722	Missense_Mutation	SNP	C	C3L-02219_TP	546934	51339722	93798914	36	9022											
FAM91A1	0	.	GRCh38	chr8	123812575	123812575	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttttcaagtttgctttcAcagtcatcgtgtgctgacat	8	17	8	8	1	3	1	3	1	0	0	4	1	3	1	0	0	2	4	0	0	1	4	novel		C3L-02219_TP	C3L-02219_NB	A	A																c.2388A>G	p.=	p.S796S	ENST00000334705	24/24	110	89	21	120	120	0	strelka-varscan-mutect	FAM91A1,synonymous_variant,p.=,ENST00000334705,NM_001317917.1,NM_144963.2;FAM91A1,downstream_gene_variant,,ENST00000521166,NM_001317918.1;FAM91A1,3_prime_UTR_variant,,ENST00000519721,;FAM91A1,3_prime_UTR_variant,,ENST00000518976,;FAM91A1,non_coding_transcript_exon_variant,,ENST00000518333,;FAM91A1,downstream_gene_variant,,ENST00000520246,;	G	ENST00000334705	Transcript	synonymous_variant	2634/5511	2388/2517	796/838	S	tcA/tcG		1		1	FAM91A1	HGNC	HGNC:26306	protein_coding	YES	CCDS6346.2	ENSP00000335082	Q658Y4		UPI0000E5AF4E	NM_001317917.1,NM_144963.2			24/24		Pfam_domain:PF14648,hmmpanther:PTHR28441,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	30	123812575	123812575	A	G	1	0	0	0	0	0	0	0	1	5509	146	6	5		5	FAM91A1	8	123812575	Silent	SNP	A	C3L-02219_TP	72472853	123812575	21326061	37	9023											
SQLE	0	.	GRCh38	chr8	125018631	125018631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgagctatttcttttttagGccaaaaaatcattttactgg	12	17	6	6	0	2	1	1	1	1	0	2	1	2	1	1	2	2	1	1	2	6	7	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.1348G>T	p.Ala450Ser	p.A450S	ENST00000265896	9/11	128	120	8	149	149	0	varscan-mutect	SQLE,missense_variant,p.Ala450Ser,ENST00000265896,NM_003129.3;SQLE,missense_variant,p.Ala355Ser,ENST00000523430,;SQLE,missense_variant,p.Ala102Ser,ENST00000518931,;SQLE,splice_region_variant,,ENST00000518604,;SQLE,downstream_gene_variant,,ENST00000520493,;	T	ENST00000265896	Transcript	missense_variant,splice_region_variant	2246/2961	1348/1725	450/574	A/S	Gcc/Tcc		1		1	SQLE	HGNC	HGNC:11279	protein_coding	YES	CCDS47918.1	ENSP00000265896	Q14534	Q9UNR6	UPI0000073EEE	NM_003129.3	deleterious(0)		9/11		hmmpanther:PTHR10835,Pfam_domain:PF08491,Superfamily_domains:SSF51905																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	125018631	125018631	G	T	1	0	0	0	0	1	0	0	0	15487	1217	42	2		2	SQLE	8	125018631	Missense_Mutation	SNP	G	C3L-02219_TP	1206056	125018631	20120005	38	9024											
ASAP1	0	.	GRCh38	chr8	130112108	130112108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatacctttcccggcgttcCtaggaggcagagggggagcc	7	7	14	13	2	0	1	0	0	0	1	2	3	2	3	5	5	2	2	5	5	2	4	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.2387G>A	p.Arg796Lys	p.R796K	ENST00000518721	24/30	166	157	9	198	198	0	strelka-varscan-mutect	ASAP1,missense_variant,p.Arg789Lys,ENST00000357668,NM_001247996.1;ASAP1,missense_variant,p.Arg796Lys,ENST00000518721,NM_018482.3;ASAP1,missense_variant,p.Arg617Lys,ENST00000524124,;ASAP1,missense_variant,p.Arg210Lys,ENST00000519483,;ASAP1,3_prime_UTR_variant,,ENST00000521075,;ASAP1,non_coding_transcript_exon_variant,,ENST00000520189,;ASAP1,downstream_gene_variant,,ENST00000521057,;	T	ENST00000518721	Transcript	missense_variant	2615/5507	2387/3390	796/1129	R/K	aGg/aAg		1		-1	ASAP1	HGNC	HGNC:2720	protein_coding	YES	CCDS6362.1	ENSP00000429900	Q9ULH1		UPI0000351D6E	NM_018482.3	tolerated(0.15)		24/30		hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF192																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	30	130112108	130112108	C	T	1	0	0	0	0	1	0	0	0	1152	681	24	3		3	ASAP1	8	130112108	Missense_Mutation	SNP	C	C3L-02219_TP	5093477	130112108	15026528	39	9025											
SCX	0	.	GRCh38	chr8	144266665	144266665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggccgctacctgtaccccGaggtgagcccgctgtcggag	5	6	15	15	5	0	1	0	1	0	0	1	3	0	2	5	3	3	3	5	3	2	2	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.52G>A	p.Glu18Lys	p.E18K	ENST00000567180	1/2	140	128	12	91	91	0	strelka-varscan-mutect	SCX,missense_variant,p.Glu18Lys,ENST00000567180,NM_001080514.2;BOP1,intron_variant,,ENST00000569669,NM_015201.4;BOP1,intron_variant,,ENST00000569403,;MROH1,downstream_gene_variant,,ENST00000528919,NM_032450.2;MROH1,downstream_gene_variant,,ENST00000326134,;MROH1,downstream_gene_variant,,ENST00000534366,NM_001288814.1;MROH1,downstream_gene_variant,,ENST00000544576,;BOP1,upstream_gene_variant,,ENST00000616126,;BOP1,upstream_gene_variant,,ENST00000563210,;BOP1,upstream_gene_variant,,ENST00000568812,;BOP1,upstream_gene_variant,,ENST00000569160,;	A	ENST00000567180	Transcript	missense_variant	106/999	52/606	18/201	E/K	Gag/Aag		1		1	SCX	HGNC	HGNC:32322	protein_coding	YES	CCDS43779.1	ENSP00000476384	Q7RTU7		UPI00001D965C	NM_001080514.2	deleterious(0.01)		1/2		hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	30	144266665	144266665	G	A	1	0	0	0	0	1	0	0	0	14218	1059	37	1		1	SCX	8	144266665	Missense_Mutation	SNP	G	C3L-02219_TP	14154557	144266665	871971	40	9026											
TYRP1	0	.	GRCh38	chr9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															ctcctttttattccaactctAcaaacagtttccgaaacaca																								rs752724988		C3L-02219_TP	C3L-02219_NB	ACAA	ACAA																c.1057_1060delAACA	p.Asn353ValfsTer31	p.N353Vfs*31	ENST00000388918	5/8	319	289	30	454	454	0	sindel-varindel-pindel	TYRP1,frameshift_variant,p.Asn353ValfsTer31,ENST00000388918,NM_000550.2;TYRP1,frameshift_variant,p.Asn63ValfsTer31,ENST00000381136,;LURAP1L-AS1,intron_variant,,ENST00000417638,;TYRP1,non_coding_transcript_exon_variant,,ENST00000381142,;TYRP1,non_coding_transcript_exon_variant,,ENST00000470909,;	-	ENST00000388918	Transcript	frameshift_variant	1183-1186/2851	1054-1057/1614	352-353/537	TN/X	ACAAac/ac	rs752724988,COSM166262	1		1	TYRP1	HGNC	HGNC:12450	protein_coding	YES	CCDS34990.1	ENSP00000373570	P17643		UPI0000039DCA	NM_000550.2			5/8		Gene3D:1.10.1280.10,Pfam_domain:PF00264,hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF3,Superfamily_domains:SSF48056											0,1						HIGH	1	deletion	1	3	0,1	1										PASS		.	.												-	7	5	30	12702411	12702411	ACAA	-	1	0	1	0	1	0	0	0	0	17331	391	14	0		0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	C3L-02219_TP		12702411	125692306	41	9027											
CCDC171	0	.	GRCh38	chr9	15666315	15666315	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacaagagagctttgcaaaActaaatttgtaagtattcta	16	12	7	6	0	1	1	0	0	1	1	1	2	1	1	0	0	3	5	0	0	8	7	novel		C3L-02219_TP	C3L-02219_NB	A	A																c.1068A>G	p.=	p.K356K	ENST00000380701	9/26	79	75	4	107	107	0	varscan-mutect	CCDC171,synonymous_variant,p.=,ENST00000380701,NM_173550.2;	G	ENST00000380701	Transcript	synonymous_variant	1396/6512	1068/3981	356/1326	K	aaA/aaG		1		1	CCDC171	HGNC	HGNC:29828	protein_coding	YES	CCDS6481.1	ENSP00000370077	Q6TFL3		UPI000021C44B	NM_173550.2			9/26		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF388																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	30	15666315	15666315	A	G	1	0	0	0	0	0	0	0	1	2488	40	2	5		5	CCDC171	9	15666315	Silent	SNP	A	C3L-02219_TP	2963904	15666315	122728402	42	9028											
ABCA1	0	.	GRCh38	chr9	104824557	104824557	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgcaaggaaaataccagGgcctgggaattccgtactgg	11	8	14	8	1	0	0	0	0	0	0	1	2	1	2	3	5	3	2	3	5	6	3	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.2564C>G	p.Pro855Arg	p.P855R	ENST00000374736	18/50	348	312	36	489	489	0	strelka-varscan-mutect	ABCA1,missense_variant,p.Pro855Arg,ENST00000374736,NM_005502.3;ABCA1,downstream_gene_variant,,ENST00000494467,;	C	ENST00000374736	Transcript	missense_variant	2959/10494	2564/6786	855/2261	P/R	cCc/cGc		1		-1	ABCA1	HGNC	HGNC:29	protein_coding	YES	CCDS6762.1	ENSP00000363868	O95477		UPI000013E441	NM_005502.3	deleterious(0)		18/50		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF34																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	30	104824557	104824557	G	C	1	0	0	0	0	1	0	0	0	32	1232	43	4		4	ABCA1	9	104824557	Missense_Mutation	SNP	G	C3L-02219_TP	89158242	104824557	33570160	43	9029											
GOLGA2	0	.	GRCh38	chr9	128261224	128261224	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagctcctgtacccgactCatgctacattccttctcctc	6	13	4	18	1	2	0	1	0	1	0	7	1	5	0	5	0	4	3	5	0	2	4	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.1287G>C	p.Met429Ile	p.M429I	ENST00000421699	16/26	146	138	8	190	190	0	strelka-varscan-mutect	GOLGA2,missense_variant,p.Met429Ile,ENST00000421699,NM_004486.4;GOLGA2,missense_variant,p.Met429Ile,ENST00000611957,;GOLGA2,missense_variant,p.Met417Ile,ENST00000609374,;GOLGA2,missense_variant,p.Met456Ile,ENST00000450617,;GOLGA2,intron_variant,,ENST00000610329,;GOLGA2,downstream_gene_variant,,ENST00000458730,;GOLGA2,non_coding_transcript_exon_variant,,ENST00000490257,;GOLGA2,non_coding_transcript_exon_variant,,ENST00000470630,;GOLGA2,upstream_gene_variant,,ENST00000462089,;GOLGA2,upstream_gene_variant,,ENST00000486411,;GOLGA2,downstream_gene_variant,,ENST00000468488,;GOLGA2,upstream_gene_variant,,ENST00000461031,;GOLGA2,upstream_gene_variant,,ENST00000496221,;	G	ENST00000421699	Transcript	missense_variant	1300/4260	1287/3009	429/1002	M/I	atG/atC		1		-1	GOLGA2	HGNC	HGNC:4425	protein_coding	YES	CCDS6896.2	ENSP00000416097	Q08379		UPI0000D4C11A	NM_004486.4	tolerated(0.64)		16/26		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15070,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF45																	MODERATE	1	SNV	1			1										PASS		rs1211215333	.												G	3	3	30	128261224	128261224	C	G	1	0	0	0	0	1	0	0	0	6431	826	29	4		4	GOLGA2	9	128261224	Missense_Mutation	SNP	C	C3L-02219_TP	23436667	128261224	10133493	44	9030											
PRDM12	0	.	GRCh38	chr9	130666626	130666626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtgcagaagctgtccaGcctggtgctgcctgcggagg	8	7	16	10	1	0	2	0	0	0	2	1	3	1	3	3	3	6	3	3	3	2	0	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.242G>T	p.Ser81Ile	p.S81I	ENST00000253008	2/5	127	106	21	164	164	0	strelka-varscan-mutect	PRDM12,missense_variant,p.Ser81Ile,ENST00000253008,NM_021619.2;	T	ENST00000253008	Transcript	missense_variant	302/2476	242/1104	81/367	S/I	aGc/aTc		1		1	PRDM12	HGNC	HGNC:13997	protein_coding	YES	CCDS6934.1	ENSP00000253008	Q9H4Q4		UPI0000132184	NM_021619.2	deleterious(0)		2/5		Gene3D:2.170.270.10,PIRSF_domain:PIRSF037163																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	130666626	130666626	G	T	1	0	0	0	0	1	0	0	0	12584	971	34	2		2	PRDM12	9	130666626	Missense_Mutation	SNP	G	C3L-02219_TP	2405402	130666626	7728091	45	9031											
ATP5C1	0	.	GRCh38	chr10	7802825	7802825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcatcacaaaagagttGattgaaattatctctggtgc	12	13	9	7	0	3	3	2	2	1	1	4	3	3	3	0	1	1	2	0	1	4	3	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.861G>T	p.Leu287Phe	p.L287F	ENST00000356708	8/10	170	149	21	266	265	1	strelka-varscan-mutect	ATP5C1,missense_variant,p.Leu287Phe,ENST00000356708,NM_001001973.1;ATP5C1,missense_variant,p.Leu287Phe,ENST00000335698,NM_005174.2;ATP5C1,non_coding_transcript_exon_variant,,ENST00000493053,;ATP5C1,non_coding_transcript_exon_variant,,ENST00000473809,;ATP5C1,non_coding_transcript_exon_variant,,ENST00000480528,;ATP5C1,intron_variant,,ENST00000465936,;ATP5C1,downstream_gene_variant,,ENST00000460820,;ATP5C1,downstream_gene_variant,,ENST00000472202,;	T	ENST00000356708	Transcript	missense_variant	940/1163	861/897	287/298	L/F	ttG/ttT		1		1	ATP5C1	HGNC	HGNC:833	protein_coding	YES	CCDS31142.1	ENSP00000349142	P36542		UPI0000126574	NM_001001973.1	deleterious(0)		8/10		hmmpanther:PTHR11693,PROSITE_patterns:PS00153,TIGRFAM_domain:TIGR01146,PIRSF_domain:PIRSF039089,Gene3D:1.10.287.80,Pfam_domain:PF00231,Superfamily_domains:SSF52943,Prints_domain:PR00126																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	7802825	7802825	G	T	1	0	0	0	0	1	0	0	0	1302	1281	45	2		2	ATP5C1	10	7802825	Missense_Mutation	SNP	G	C3L-02219_TP		7802825	125994597	46	9032											
SVIL	0	.	GRCh38	chr10	29550908	29550908	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggtcctgagccccatCgtctcggtcccggggtacag	6	7	13	15	3	1	1	0	1	1	0	5	1	3	1	4	4	2	2	4	4	1	1	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.516G>T	p.=	p.T172T	ENST00000355867	6/38	240	210	30	325	325	0	strelka-varscan-mutect	SVIL,synonymous_variant,p.=,ENST00000375398,;SVIL,synonymous_variant,p.=,ENST00000355867,NM_021738.2;SVIL,synonymous_variant,p.=,ENST00000375400,NM_003174.3;SVIL,downstream_gene_variant,,ENST00000483758,;	A	ENST00000355867	Transcript	synonymous_variant	1269/7586	516/6645	172/2214	T	acG/acT		1		-1	SVIL	HGNC	HGNC:11480	protein_coding	YES	CCDS7164.1	ENSP00000348128	O95425		UPI0000366678	NM_021738.2			6/38		hmmpanther:PTHR11977:SF45,hmmpanther:PTHR11977																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	30	29550908	29550908	C	A	1	0	0	0	0	0	0	0	1	15806	871	31	1		1	SVIL	10	29550908	Silent	SNP	C	C3L-02219_TP	21748083	29550908	104246514	47	9033											
NRP1	0	.	GRCh38	chr10	33185670	33185670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggttattaatactaatgtCatccacagcaatcccaccaa	14	11	5	11	0	1	0	1	0	0	0	3	0	3	0	3	1	2	2	3	1	6	4	rs757346128		C3L-02219_TP	C3L-02219_NB	C	C																c.2389G>A	p.Asp797Asn	p.D797N	ENST00000265371	16/18	237	217	20	262	262	0	strelka-varscan-mutect	NRP1,missense_variant,p.Asp797Asn,ENST00000265371,;NRP1,missense_variant,p.Asp797Asn,ENST00000374867,NM_003873.5,NM_001244973.1,NM_001244972.1;NRP1,missense_variant,p.Asp797Asn,ENST00000395995,;NRP1,missense_variant,p.Asp609Asn,ENST00000374875,;NRP1,upstream_gene_variant,,ENST00000413802,;	T	ENST00000265371	Transcript	missense_variant	2915/5882	2389/2772	797/923	D/N	Gac/Aac	rs757346128	1		-1	NRP1	HGNC	HGNC:8004	protein_coding	YES	CCDS7177.1	ENSP00000265371	O14786		UPI000013D60A		tolerated(0.66)		16/18		Pfam_domain:PF00629,PIRSF_domain:PIRSF036960,Prints_domain:PR00020,PROSITE_profiles:PS50060,SMART_domains:SM00137,Superfamily_domains:SSF49899																	MODERATE	1	SNV	5			1										PASS		rs757346128	.												T	3	4	30	33185670	33185670	C	T	1	0	0	0	0	1	0	0	0	10718	826	29	3		3	NRP1	10	33185670	Missense_Mutation	SNP	C	C3L-02219_TP	3634762	33185670	100611752	48	9034											
UNC5B	0	.	GRCh38	chr10	71296727	71296727	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccagatattccagctgcaTaccactctggcagaggtgag	10	8	12	11	0	1	3	0	1	1	2	2	3	2	3	3	3	3	3	3	3	2	3	rs12783269		C3L-02219_TP	C3L-02219_NB	T	T																c.2475T>C	p.=	p.H825H	ENST00000335350	15/17	90	85	5	115	115	0	strelka-varscan	UNC5B,synonymous_variant,p.=,ENST00000335350,NM_170744.4;UNC5B,synonymous_variant,p.=,ENST00000373192,NM_001244889.1;	C	ENST00000335350	Transcript	synonymous_variant	2891/6841	2475/2838	825/945	H	caT/caC	rs12783269	1		1	UNC5B	HGNC	HGNC:12568	protein_coding	YES	CCDS7309.1	ENSP00000334329	Q8IZJ1		UPI000000D753	NM_170744.4			15/17		hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF6																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	30	71296727	71296727	T	C	1	0	0	0	0	0	0	0	1	17516	1403	49	5		5	UNC5B	10	71296727	Silent	SNP	T	C3L-02219_TP	38111057	71296727	62500695	49	9035											
CCNJ	0	.	GRCh38	chr10	96058210	96058210	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatcagataaatgaacattAcccttgtattactccatgtt	13	16	4	8	0	1	2	1	1	0	1	2	2	2	2	2	0	3	2	2	0	7	7	novel		C3L-02219_TP	C3L-02219_NB	A	A																c.1121A>T	p.Tyr374Phe	p.Y374F	ENST00000465148	6/6	89	75	14	112	112	0	strelka-varscan-mutect	CCNJ,missense_variant,p.Tyr363Phe,ENST00000265992,NM_019084.4;CCNJ,missense_variant,p.Tyr362Phe,ENST00000403870,NM_001134376.1;CCNJ,missense_variant,p.Tyr374Phe,ENST00000465148,NM_001134375.1;ENTPD1-AS1,intron_variant,,ENST00000416301,;ENTPD1-AS1,intron_variant,,ENST00000458228,;ENTPD1-AS1,intron_variant,,ENST00000454638,;ENTPD1-AS1,intron_variant,,ENST00000452728,;ENTPD1-AS1,intron_variant,,ENST00000427846,;ENTPD1-AS1,intron_variant,,ENST00000451364,;	T	ENST00000465148	Transcript	missense_variant	1299/2677	1121/1152	374/383	Y/F	tAc/tTc		1		1	CCNJ	HGNC	HGNC:23434	protein_coding	YES	CCDS44462.1	ENSP00000435373	Q5T5M9		UPI00001F9448	NM_001134375.1	tolerated(0.92)		6/6																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	30	96058210	96058210	A	T	1	0	0	0	0	1	0	0	0	2627	391	14	4		4	CCNJ	10	96058210	Missense_Mutation	SNP	A	C3L-02219_TP	24761483	96058210	37739212	50	9036											
BTRC	0	.	GRCh38	chr10	101462013	101462013	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaagactgtaataatggCgaaccccctaggaagataat	17	7	10	7	1	0	3	0	0	0	3	0	6	0	4	2	2	1	1	2	2	7	4	rs759103744		C3L-02219_TP	C3L-02219_NB	C	C																c.189C>T	p.=	p.G63G	ENST00000370187	3/15	161	151	10	197	197	0	strelka-varscan-mutect	BTRC,synonymous_variant,p.=,ENST00000370187,NM_033637.3;BTRC,synonymous_variant,p.=,ENST00000408038,NM_003939.4;BTRC,synonymous_variant,p.=,ENST00000370183,;BTRC,intron_variant,,ENST00000393441,NM_001256856.1;BTRC,non_coding_transcript_exon_variant,,ENST00000465182,;BTRC,non_coding_transcript_exon_variant,,ENST00000475200,;	T	ENST00000370187	Transcript	synonymous_variant	307/6134	189/1818	63/605	G	ggC/ggT	rs759103744,COSM4011121	1		1	BTRC	HGNC	HGNC:1144	protein_coding	YES	CCDS7512.1	ENSP00000359206	Q9Y297	A0A0S2Z4P6	UPI00000012B5	NM_033637.3			3/15													0,1						LOW	1	SNV	1		0,1	1										PASS		rs759103744	.												T	2	4	30	101462013	101462013	C	T	1	0	0	0	0	0	0	0	1	1745	755	27	1		1	BTRC	10	101462013	Silent	SNP	C	C3L-02219_TP	5403803	101462013	32335409	51	9037											
EMX2	0	.	GRCh38	chr10	117545698	117545698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgaaagcccaagcggatccGaaccgccttctccccgtccc	8	5	8	20	5	1	0	0	0	1	0	4	3	3	1	8	1	3	0	8	1	3	1			C3L-02219_TP	C3L-02219_NB	G	G																c.473G>A	p.Arg158Gln	p.R158Q	ENST00000553456	2/3	128	117	11	127	126	1	strelka-varscan-mutect	EMX2,missense_variant,p.Arg158Gln,ENST00000553456,NM_004098.3;EMX2,intron_variant,,ENST00000442245,NM_001165924.1;EMX2,intron_variant,,ENST00000616794,;EMX2OS,upstream_gene_variant,,ENST00000551288,;EMX2OS,upstream_gene_variant,,ENST00000440007,;EMX2OS,upstream_gene_variant,,ENST00000450314,;EMX2,non_coding_transcript_exon_variant,,ENST00000546446,;	A	ENST00000553456	Transcript	missense_variant	1297/2897	473/759	158/252	R/Q	cGa/cAa	COSM280793	1		1	EMX2	HGNC	HGNC:3341	protein_coding	YES	CCDS7601.1	ENSP00000450962	Q04743		UPI000004CC07	NM_004098.3	deleterious(0)		2/3		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24339,hmmpanther:PTHR24339:SF25,SMART_domains:SM00389,Superfamily_domains:SSF46689											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	30	117545698	117545698	G	A	1	0	0	0	0	1	0	0	0	4950	1058	37	1		1	EMX2	10	117545698	Missense_Mutation	SNP	G	C3L-02219_TP	16083685	117545698	16251724	52	9038											
FADS3	0	.	GRCh38	chr11	61876169	61876169	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttggtgaaaagtgagggctCcacgttgcaggtggctgcca	8	9	16	8	1	0	2	0	2	0	0	1	2	1	2	2	4	2	5	2	4	2	2	rs202232198		C3L-02219_TP	C3L-02219_NB	C	C																c.1102G>C	p.Glu368Gln	p.E368Q	ENST00000278829	10/12	222	206	16	191	191	0	strelka-varscan-mutect	FADS3,missense_variant,p.Glu368Gln,ENST00000278829,NM_021727.4;FADS3,missense_variant,p.Glu244Gln,ENST00000527697,;FADS3,missense_variant,p.Glu340Gln,ENST00000525588,;FADS3,missense_variant,p.Glu143Gln,ENST00000527379,;FADS3,missense_variant,p.Glu39Gln,ENST00000525094,;FADS3,downstream_gene_variant,,ENST00000531956,;FADS3,downstream_gene_variant,,ENST00000534223,;MIR6746,downstream_gene_variant,,ENST00000620971,;FADS3,non_coding_transcript_exon_variant,,ENST00000533676,;FADS3,non_coding_transcript_exon_variant,,ENST00000529404,;FADS3,downstream_gene_variant,,ENST00000414624,;FADS3,downstream_gene_variant,,ENST00000534426,;FADS3,downstream_gene_variant,,ENST00000526294,;	G	ENST00000278829	Transcript	missense_variant	1255/1779	1102/1338	368/445	E/Q	Gag/Cag	rs202232198	1		-1	FADS3	HGNC	HGNC:3576	protein_coding	YES	CCDS8013.1	ENSP00000278829	Q9Y5Q0	A0A024R564	UPI000003405F	NM_021727.4	tolerated(0.06)		10/12		Pfam_domain:PF00487,PIRSF_domain:PIRSF015921,hmmpanther:PTHR19353,hmmpanther:PTHR19353:SF11																	MODERATE	1	SNV	1			1										PASS		rs202232198	.												G	3	3	30	61876169	61876169	C	G	1	0	0	0	0	1	0	0	0	5239	864	30	4		4	FADS3	11	61876169	Missense_Mutation	SNP	C	C3L-02219_TP		61876169	73210453	53	9039											
ATM	0	.	GRCh38	chr11	108329125	108329125	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggttttcagatactcaataCcaaagaattgaaaactacat	17	11	5	8	1	2	3	2	1	0	2	2	3	2	3	1	1	4	1	1	1	8	6	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.7194C>A	p.Tyr2398Ter	p.Y2398*	ENST00000278616	49/63	289	212	77	407	407	0	strelka-varscan-mutect	ATM,stop_gained,p.Tyr2398Ter,ENST00000278616,NM_000051.3;ATM,stop_gained,p.Tyr2398Ter,ENST00000452508,;C11orf65,intron_variant,,ENST00000525729,;C11orf65,downstream_gene_variant,,ENST00000615746,;C11orf65,downstream_gene_variant,,ENST00000524755,;ATM,upstream_gene_variant,,ENST00000533979,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,non_coding_transcript_exon_variant,,ENST00000525537,;ATM,non_coding_transcript_exon_variant,,ENST00000527389,;C11orf65,downstream_gene_variant,,ENST00000527531,;ATM,upstream_gene_variant,,ENST00000525056,;	A	ENST00000278616	Transcript	stop_gained	7579/13147	7194/9171	2398/3056	Y/*	taC/taA		1		1	ATM	HGNC	HGNC:795	protein_coding	YES	CCDS31669.1	ENSP00000278616	Q13315	A0A024R3C7	UPI000016B511	NM_000051.3			49/63		PROSITE_profiles:PS51189,hmmpanther:PTHR11139:SF72,hmmpanther:PTHR11139,Pfam_domain:PF02259,Superfamily_domains:SSF48371																	HIGH		SNV	5			1										PASS		.	.												A	4	1	30	108329125	108329125	C	A	1	0	0	0	0	0	1	0	0	1261	518	18	2		2	ATM	11	108329125	Nonsense_Mutation	SNP	C	C3L-02219_TP	46452956	108329125	26757497	54	9040											
OR6X1	0	.	GRCh38	chr11	123754366	123754366	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacattggaatttgtagcctGggctcagcccacacagtggc	9	10	11	11	0	1	0	1	0	0	0	1	1	1	1	2	3	3	2	2	3	3	4	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.153C>T	p.=	p.P51P	ENST00000327930	1/1	120	99	21	178	178	0	strelka-varscan-mutect	OR6X1,synonymous_variant,p.=,ENST00000327930,NM_001005188.1;	A	ENST00000327930	Transcript	synonymous_variant	180/1058	153/939	51/312	P	ccC/ccT		1		-1	OR6X1	HGNC	HGNC:14737	protein_coding	YES	CCDS31695.1	ENSP00000333724	Q8NH79	A0A126GVM0	UPI000004B1D5	NM_001005188.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF30,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	30	123754366	123754366	G	A	1	0	0	0	0	0	0	0	1	11282	1335	47	3		3	OR6X1	11	123754366	Silent	SNP	G	C3L-02219_TP	15425241	123754366	11332256	55	9041											
GUCY2C	0	.	GRCh38	chr12	14643583	14643583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcattacagacccttttttgGaggtaaaatggaattgcagc	12	13	9	7	0	1	1	1	0	0	1	1	3	1	3	1	3	3	2	1	3	4	6	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.1921C>A	p.Pro641Thr	p.P641T	ENST00000261170	17/27	115	108	7	159	157	2	varscan-mutect	GUCY2C,missense_variant,p.Pro641Thr,ENST00000261170,NM_004963.3;	T	ENST00000261170	Transcript	missense_variant	2058/3844	1921/3222	641/1073	P/T	Cca/Aca		1		-1	GUCY2C	HGNC	HGNC:4688	protein_coding	YES	CCDS8664.1	ENSP00000261170	P25092		UPI000013D135	NM_004963.3	deleterious(0.04)		17/27		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF347,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	14643583	14643583	G	T	1	0	0	0	0	1	0	0	0	6778	1174	41	2		2	GUCY2C	12	14643583	Missense_Mutation	SNP	G	C3L-02219_TP		14643583	118631726	56	9042											
ANKS1B	0	.	GRCh38	chr12	99246677	99246677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttctattggagactgcttGaaaggcaaaggactgtttgc	10	14	11	6	0	1	2	0	1	1	1	1	4	1	3	0	3	2	3	0	3	3	6	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.1944C>G	p.Phe648Leu	p.F648L	ENST00000547776	13/26	152	126	26	221	221	0	strelka-varscan-mutect	ANKS1B,missense_variant,p.Phe648Leu,ENST00000547776,NM_152788.4;ANKS1B,missense_variant,p.Phe228Leu,ENST00000547010,;ANKS1B,downstream_gene_variant,,ENST00000549866,;ANKS1B,upstream_gene_variant,,ENST00000550778,;ANKS1B,non_coding_transcript_exon_variant,,ENST00000550833,;ANKS1B,non_coding_transcript_exon_variant,,ENST00000546631,;ANKS1B,non_coding_transcript_exon_variant,,ENST00000550157,;	C	ENST00000547776	Transcript	missense_variant	1944/3885	1944/3747	648/1248	F/L	ttC/ttG		1		-1	ANKS1B	HGNC	HGNC:24600	protein_coding	YES	CCDS55872.1	ENSP00000449629	Q7Z6G8		UPI00003FE521	NM_152788.4	tolerated(0.7)		13/26		hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	30	99246677	99246677	G	C	1	0	0	0	0	1	0	0	0	795	1281	45	4		4	ANKS1B	12	99246677	Missense_Mutation	SNP	G	C3L-02219_TP	84603094	99246677	34028632	57	9043											
PCDH9	0	.	GRCh38	chr13	67227665	67227665	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcattctctggaatatgcAcctccacttgaccctcttta	9	13	6	13	0	2	1	0	1	2	0	4	3	3	2	3	1	2	2	3	1	3	5	novel		C3L-02219_TP	C3L-02219_NB	A	A																c.776T>C	p.Val259Ala	p.V259A	ENST00000377865	2/5	124	108	16	168	168	0	strelka-varscan-mutect	PCDH9,missense_variant,p.Val259Ala,ENST00000377861,;PCDH9,missense_variant,p.Val259Ala,ENST00000544246,NM_020403.4;PCDH9,missense_variant,p.Val259Ala,ENST00000377865,NM_203487.2;PCDH9,missense_variant,p.Val259Ala,ENST00000456367,;	G	ENST00000377865	Transcript	missense_variant	950/5709	776/3714	259/1237	V/A	gTg/gCg		1		-1	PCDH9	HGNC	HGNC:8661	protein_coding	YES	CCDS9444.1	ENSP00000367096	Q9HC56	X5D7N0	UPI00001FCE90	NM_203487.2	tolerated(1)		2/5		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF25,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	30	67227665	67227665	A	G	1	0	0	0	0	1	0	0	0	11605	159	6	5		5	PCDH9	13	67227665	Missense_Mutation	SNP	A	C3L-02219_TP		67227665	47136663	58	9044											
HAUS4	0	.	GRCh38	chr14	22947221	22947221	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagtgtaagtgtcggacaaAatctttagctcctccatcct	11	12	7	11	1	1	0	0	0	1	0	5	1	4	1	3	1	1	2	3	1	4	3	novel		C3L-02219_TP	C3L-02219_NB	A	A																c.858T>A	p.=	p.I286I	ENST00000206474	9/10	191	151	40	233	233	0	strelka-varscan-mutect	HAUS4,synonymous_variant,p.=,ENST00000206474,;HAUS4,synonymous_variant,p.=,ENST00000541587,NM_001166269.1,NM_017815.2;HAUS4,synonymous_variant,p.=,ENST00000555986,;HAUS4,synonymous_variant,p.=,ENST00000342454,NM_001166270.1;HAUS4,synonymous_variant,p.=,ENST00000555367,;HAUS4,synonymous_variant,p.=,ENST00000490506,;HAUS4,synonymous_variant,p.=,ENST00000347758,;RP11-298I3.5,synonymous_variant,p.=,ENST00000555074,;HAUS4,downstream_gene_variant,,ENST00000555040,;HAUS4,downstream_gene_variant,,ENST00000554516,;HAUS4,downstream_gene_variant,,ENST00000554406,;HAUS4,downstream_gene_variant,,ENST00000557591,;HAUS4,downstream_gene_variant,,ENST00000556915,;HAUS4,downstream_gene_variant,,ENST00000553420,;RP11-298I3.1,intron_variant,,ENST00000548322,;RP11-298I3.1,intron_variant,,ENST00000548819,;HAUS4,non_coding_transcript_exon_variant,,ENST00000554446,;HAUS4,downstream_gene_variant,,ENST00000554373,;HAUS4,downstream_gene_variant,,ENST00000554651,;HAUS4,downstream_gene_variant,,ENST00000554349,;HAUS4,downstream_gene_variant,,ENST00000553794,;HAUS4,3_prime_UTR_variant,,ENST00000553859,;HAUS4,non_coding_transcript_exon_variant,,ENST00000556421,;HAUS4,downstream_gene_variant,,ENST00000554063,;	T	ENST00000206474	Transcript	synonymous_variant	1111/1642	858/1092	286/363	I	atT/atA		1		-1	HAUS4	HGNC	HGNC:20163	protein_coding	YES	CCDS9580.1	ENSP00000206474	Q9H6D7		UPI000006F422				9/10		hmmpanther:PTHR16219,hmmpanther:PTHR16219:SF1,Pfam_domain:PF14735,PD360721																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	30	22947221	22947221	A	T	1	0	0	0	0	0	0	0	1	6854	10	1	4		4	HAUS4	14	22947221	Silent	SNP	A	C3L-02219_TP		22947221	84096497	59	9045											
SERPINA12	0	.	GRCh38	chr14	94497791	94497791	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaatataatttgcaagaaGcatcacagtgccggggtcta	15	9	10	7	1	2	1	1	0	1	1	2	2	2	1	1	2	3	2	1	2	7	4	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.607C>G	p.Leu203Val	p.L203V	ENST00000341228	3/6	105	74	31	162	162	0	strelka-varscan-mutect	SERPINA12,missense_variant,p.Leu203Val,ENST00000341228,NM_173850.3;SERPINA12,missense_variant,p.Leu203Val,ENST00000556881,NM_001304461.1;	C	ENST00000341228	Transcript	missense_variant	1403/2061	607/1245	203/414	L/V	Ctt/Gtt		1		-1	SERPINA12	HGNC	HGNC:18359	protein_coding	YES	CCDS9926.1	ENSP00000342109	Q8IW75		UPI000000D86C	NM_173850.3	tolerated(0.6)		3/6		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF157,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	30	94497791	94497791	G	C	1	0	0	0	0	1	0	0	0	14365	971	34	4		4	SERPINA12	14	94497791	Missense_Mutation	SNP	G	C3L-02219_TP	71550570	94497791	12545927	60	9046											
CCNK	0	.	GRCh38	chr14	99510597	99510597	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaaccccaacttcccacccCcacccccacgcctcccgcct	8	4	2	27	2	0	0	0	0	0	0	2	0	2	0	10	0	2	0	10	0	2	1	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.1558C>G	p.Pro520Ala	p.P520A	ENST00000389879	11/11	19	12	7	23	23	0	strelka-varscan-mutect	CCNK,missense_variant,p.Pro520Ala,ENST00000389879,NM_001099402.1;CCDC85C,3_prime_UTR_variant,,ENST00000380243,NM_001144995.1;CCNK,intron_variant,,ENST00000555049,;CCDC85C,downstream_gene_variant,,ENST00000557769,;CCDC85C,downstream_gene_variant,,ENST00000555822,;CCDC85C,downstream_gene_variant,,ENST00000557576,;CCDC85C,downstream_gene_variant,,ENST00000554996,;CCDC85C,downstream_gene_variant,,ENST00000554877,;RP11-688G15.3,upstream_gene_variant,,ENST00000557733,;CCNK,non_coding_transcript_exon_variant,,ENST00000553865,;	G	ENST00000389879	Transcript	missense_variant	1681/3524	1558/1743	520/580	P/A	Cca/Gca		1		1	CCNK	HGNC	HGNC:1596	protein_coding	YES	CCDS45160.1	ENSP00000374529	O75909	A0A024R6K1	UPI00001FDB50	NM_001099402.1	deleterious_low_confidence(0.02)		11/11		Low_complexity_(Seg):seg,hmmpanther:PTHR10026:SF71,hmmpanther:PTHR10026																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	30	99510597	99510597	C	G	1	0	0	0	0	1	0	0	0	2629	623	22	4		4	CCNK	14	99510597	Missense_Mutation	SNP	C	C3L-02219_TP	5012806	99510597	7533121	61	9047											
GOLGA6L2	0	.	GRCh38	chr15	23443855	23443855	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagtgccaggaatgatgCaagcggccggcgagatcctt	11	6	14	10	3	0	2	0	1	0	1	1	4	1	3	3	3	3	2	3	3	3	1	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.513G>T	p.Leu171Phe	p.L171F	ENST00000567107	5/8	187	150	37	284	284	0	strelka-varscan-mutect	GOLGA6L2,missense_variant,p.Leu171Phe,ENST00000567107,NM_001304388.1;GOLGA6L2,missense_variant,p.Leu159Phe,ENST00000312015,;GOLGA6L2,5_prime_UTR_variant,,ENST00000345070,;GOLGA6L2,missense_variant,p.Leu161Phe,ENST00000566571,;	A	ENST00000567107	Transcript	missense_variant	566/3030	513/2730	171/909	L/F	ttG/ttT		1		-1	GOLGA6L2	HGNC	HGNC:26695	protein_coding	YES	CCDS76728.1	ENSP00000454407		H3BMJ4	UPI00024672CE	NM_001304388.1	deleterious_low_confidence(0)		5/8		hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF11																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	30	23443855	23443855	C	A	1	0	0	0	0	1	0	0	0	6440	709	25	2		2	GOLGA6L2	15	23443855	Missense_Mutation	SNP	C	C3L-02219_TP		23443855	78547334	62	9048											
HERC2	0	.	GRCh38	chr15	28192080	28192080	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggaccagctgtccagcaGcatgcctggctggctgctgt	5	8	15	13	1	0	0	0	0	0	0	1	1	1	1	3	3	5	6	3	3	0	0	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.8332C>T	p.=	p.L2778L	ENST00000261609	53/93	145	131	14	180	180	0	strelka-varscan-mutect	HERC2,synonymous_variant,p.=,ENST00000261609,NM_004667.5;HERC2,non_coding_transcript_exon_variant,,ENST00000567869,;	A	ENST00000261609	Transcript	synonymous_variant	8441/15337	8332/14505	2778/4834	L	Ctg/Ttg		1		-1	HERC2	HGNC	HGNC:4868	protein_coding	YES	CCDS10021.1	ENSP00000261609	O95714		UPI00004578F7	NM_004667.5			53/93		Gene3D:2.60.120.260,PROSITE_profiles:PS51284,Superfamily_domains:SSF49785																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	30	28192080	28192080	G	A	1	0	0	0	0	0	0	0	1	6942	962	34	3		3	HERC2	15	28192080	Silent	SNP	G	C3L-02219_TP	4748225	28192080	73799109	63	9049											
AP4E1	0	.	GRCh38	chr15	50929080	50929080	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctaatcaagtacaacAtattcatattaagtttcgga	14	14	5	8	1	2	0	2	0	0	0	4	1	3	1	1	1	3	3	1	1	7	7	novel		C3L-02219_TP	C3L-02219_NB	A	A																c.614A>T	p.His205Leu	p.H205L	ENST00000261842	6/21	313	281	32	467	466	1	strelka-varscan-mutect	AP4E1,missense_variant,p.His205Leu,ENST00000261842,NM_007347.4;AP4E1,missense_variant,p.His130Leu,ENST00000560508,NM_001252127.1;AP4E1,missense_variant,p.His205Leu,ENST00000558439,;AP4E1,missense_variant,p.His130Leu,ENST00000561393,;AP4E1,missense_variant,p.His205Leu,ENST00000561441,;	T	ENST00000261842	Transcript	missense_variant	720/6758	614/3414	205/1137	H/L	cAt/cTt		1		1	AP4E1	HGNC	HGNC:573	protein_coding	YES	CCDS32240.1	ENSP00000261842	Q9UPM8		UPI00001D89D8	NM_007347.4	deleterious(0)		6/21		hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF13,Pfam_domain:PF01602,PIRSF_domain:PIRSF037097,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	50929080	50929080	A	T	1	0	0	0	0	1	0	0	0	868	217	8	4		4	AP4E1	15	50929080	Missense_Mutation	SNP	A	C3L-02219_TP	22737000	50929080	51062109	64	9050											
KIF23	0	.	GRCh38	chr15	69446287	69446287	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcccctttttcagtagtCgaaaacgaagatcttccaca	11	13	6	11	2	2	1	1	0	1	1	5	3	4	1	3	0	1	2	3	0	4	5	rs778267317		C3L-02219_TP	C3L-02219_NB	C	C																c.2719C>A	p.=	p.R907R	ENST00000260363	21/23	292	243	49	435	431	4	strelka-varscan-mutect	KIF23,splice_region_variant,p.=,ENST00000395392,;KIF23,synonymous_variant,p.=,ENST00000260363,NM_138555.3,NM_001281301.1;KIF23,synonymous_variant,p.=,ENST00000559279,NM_004856.6;KIF23,synonymous_variant,p.=,ENST00000352331,;KIF23,synonymous_variant,p.=,ENST00000558585,;KIF23,3_prime_UTR_variant,,ENST00000561089,;KIF23,non_coding_transcript_exon_variant,,ENST00000558303,;KIF23,non_coding_transcript_exon_variant,,ENST00000560125,;KIF23,upstream_gene_variant,,ENST00000559944,;	A	ENST00000260363	Transcript	synonymous_variant	2939/3713	2719/2883	907/960	R	Cga/Aga	rs778267317,COSM4655234,COSM4655235	1		1	KIF23	HGNC	HGNC:6392	protein_coding	YES	CCDS32278.1	ENSP00000260363	Q02241		UPI0000072141	NM_138555.3,NM_001281301.1			21/23													0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs778267317	.												A	2	1	30	69446287	69446287	C	A	1	0	0	0	0	0	0	0	1	8156	898	31	1		1	KIF23	15	69446287	Silent	SNP	C	C3L-02219_TP	18517207	69446287	32544902	65	9051											
FAHD1	0	.	GRCh38	chr16	1827657	1827657	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagaagatccctgaccCtcacaagctgaagctctggc	12	6	10	13	0	2	4	1	2	1	2	3	5	3	4	2	2	2	2	2	2	4	0			C3L-02219_TP	C3L-02219_NB	C	C																c.428C>G	p.Pro143Arg	p.P143R	ENST00000382666	1/3	401	367	34	324	324	0	strelka-varscan-mutect	FAHD1,missense_variant,p.Pro143Arg,ENST00000427358,NM_031208.3;FAHD1,missense_variant,p.Pro143Arg,ENST00000382666,NM_001018104.2;FAHD1,missense_variant,p.Pro143Arg,ENST00000382668,NM_001142398.1;FAHD1,missense_variant,p.Pro143Arg,ENST00000615972,;HAGH,upstream_gene_variant,,ENST00000397356,NM_005326.4;HAGH,upstream_gene_variant,,ENST00000566709,;HAGH,upstream_gene_variant,,ENST00000455446,NM_001286249.1;HAGH,upstream_gene_variant,,ENST00000397353,NM_001040427.1;HAGH,upstream_gene_variant,,ENST00000564445,;HAGH,upstream_gene_variant,,ENST00000569339,;HAGH,upstream_gene_variant,,ENST00000569700,;HAGH,upstream_gene_variant,,ENST00000565097,;HAGH,upstream_gene_variant,,ENST00000564518,;HAGH,upstream_gene_variant,,ENST00000567190,;	G	ENST00000382666	Transcript	missense_variant	691/1964	428/747	143/248	P/R	cCt/cGt	COSM967690	1		1	FAHD1	HGNC	HGNC:14169	protein_coding	YES	CCDS32367.1	ENSP00000372112	Q6P587		UPI000051946E	NM_001018104.2	deleterious(0)		1/3		hmmpanther:PTHR11820:SF7,hmmpanther:PTHR11820,Pfam_domain:PF01557,Gene3D:3.90.850.10,Superfamily_domains:SSF56529											1						MODERATE		SNV	2		1	1										PASS		.	.												G	3	3	30	1827657	1827657	C	G	1	0	0	0	0	1	0	0	0	5244	681	24	4		4	FAHD1	16	1827657	Missense_Mutation	SNP	C	C3L-02219_TP		1827657	88510688	66	9052											
DOC2A	0	.	GRCh38	chr16	30009489	30009489	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgcccaccttggccctgaGgatgctacagtgcagagtgc	8	8	13	12	0	0	2	0	1	0	1	0	3	0	3	3	2	5	2	3	2	1	2	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.331C>G	p.Leu111Val	p.L111V	ENST00000350119	3/11	427	391	36	416	416	0	strelka-varscan-mutect	DOC2A,missense_variant,p.Leu111Val,ENST00000350119,NM_003586.2,NM_001282062.1;DOC2A,missense_variant,p.Leu111Val,ENST00000616445,NM_001282063.1;DOC2A,missense_variant,p.Leu111Val,ENST00000564944,;DOC2A,missense_variant,p.Leu111Val,ENST00000564979,NM_001282068.1;DOC2A,missense_variant,p.Leu111Val,ENST00000565273,;DOC2A,missense_variant,p.Leu111Val,ENST00000563378,;DOC2A,5_prime_UTR_variant,,ENST00000563125,;DOC2A,5_prime_UTR_variant,,ENST00000567332,;DOC2A,5_prime_UTR_variant,,ENST00000574405,;INO80E,downstream_gene_variant,,ENST00000563197,NM_173618.2;INO80E,downstream_gene_variant,,ENST00000304516,NM_001304562.1;INO80E,downstream_gene_variant,,ENST00000567705,;INO80E,downstream_gene_variant,,ENST00000562291,;DOC2A,downstream_gene_variant,,ENST00000567824,;DOC2A,downstream_gene_variant,,ENST00000570194,;DOC2A,5_prime_UTR_variant,,ENST00000566310,;DOC2A,5_prime_UTR_variant,,ENST00000561671,;DOC2A,non_coding_transcript_exon_variant,,ENST00000564233,;DOC2A,non_coding_transcript_exon_variant,,ENST00000566456,;INO80E,downstream_gene_variant,,ENST00000569957,;INO80E,downstream_gene_variant,,ENST00000540562,;INO80E,downstream_gene_variant,,ENST00000567987,;INO80E,downstream_gene_variant,,ENST00000562441,;DOC2A,upstream_gene_variant,,ENST00000564357,;INO80E,downstream_gene_variant,,ENST00000567065,;	C	ENST00000350119	Transcript	missense_variant	522/2071	331/1203	111/400	L/V	Ctc/Gtc		1		-1	DOC2A	HGNC	HGNC:2985	protein_coding	YES	CCDS10666.1	ENSP00000340017	Q14183		UPI000013DBC8	NM_003586.2,NM_001282062.1	tolerated(0.53)		3/11		PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF233,PIRSF_domain:PIRSF036931,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		rs1470378618	.												C	3	2	30	30009489	30009489	G	C	1	0	0	0	0	1	0	0	0	4497	1000	35	4		4	DOC2A	16	30009489	Missense_Mutation	SNP	G	C3L-02219_TP	28181832	30009489	60328856	67	9053											
ALDOA	0	.	GRCh38	chr16	30069373	30069373	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacttgaagcgctgccAgtatgtgaccgagaaggtaa	12	8	12	9	2	0	4	0	3	0	1	0	5	0	4	3	1	2	3	3	1	4	3	novel		C3L-02219_TP	C3L-02219_NB	A	A																c.770A>G	p.Gln257Arg	p.Q257R	ENST00000395248	13/16	670	602	68	643	643	0	strelka-varscan-mutect	ALDOA,missense_variant,p.Gln203Arg,ENST00000566897,;ALDOA,missense_variant,p.Gln257Arg,ENST00000395248,;ALDOA,missense_variant,p.Gln207Arg,ENST00000627059,;ALDOA,missense_variant,p.Gln203Arg,ENST00000338110,NM_000034.3;ALDOA,missense_variant,p.Gln203Arg,ENST00000564546,NM_184041.2;ALDOA,missense_variant,p.Gln257Arg,ENST00000564595,NM_001243177.1;ALDOA,missense_variant,p.Gln203Arg,ENST00000412304,NM_001127617.2;ALDOA,missense_variant,p.Gln203Arg,ENST00000563060,NM_184043.2;ALDOA,missense_variant,p.Gln203Arg,ENST00000569798,;ALDOA,missense_variant,p.Gln207Arg,ENST00000395240,;ALDOA,missense_variant,p.Gln203Arg,ENST00000569545,;ALDOA,missense_variant,p.Gln257Arg,ENST00000562679,;ALDOA,intron_variant,,ENST00000564688,;ALDOA,downstream_gene_variant,,ENST00000568435,;ALDOA,downstream_gene_variant,,ENST00000562168,;ALDOA,downstream_gene_variant,,ENST00000563987,;ALDOA,upstream_gene_variant,,ENST00000565355,;ALDOA,downstream_gene_variant,,ENST00000566846,;CTD-2515O10.5,upstream_gene_variant,,ENST00000617969,;ALDOA,downstream_gene_variant,,ENST00000566012,;ALDOA,non_coding_transcript_exon_variant,,ENST00000564521,;ALDOA,non_coding_transcript_exon_variant,,ENST00000566130,;ALDOA,non_coding_transcript_exon_variant,,ENST00000566146,;ALDOA,downstream_gene_variant,,ENST00000567555,;ALDOA,downstream_gene_variant,,ENST00000562302,;	G	ENST00000395248	Transcript	missense_variant	1752/2447	770/1257	257/418	Q/R	cAg/cGg		1		1	ALDOA	HGNC	HGNC:414	protein_coding	YES	CCDS58450.1	ENSP00000378669	P04075		UPI0000E59D76		deleterious(0.01)		13/16		hmmpanther:PTHR11627,Gene3D:3.20.20.70,Pfam_domain:PF00274,Superfamily_domains:SSF51569																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	30	30069373	30069373	A	G	1	0	0	0	0	1	0	0	0	607	188	7	5		5	ALDOA	16	30069373	Missense_Mutation	SNP	A	C3L-02219_TP	59884	30069373	60268972	68	9054											
FBXO31	0	.	GRCh38	chr16	87334078	87334078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggctgggcagggcttGgctgggactcccgggggccc	2	6	19	14	1	0	0	0	0	0	0	1	1	1	1	3	7	0	4	3	7	0	1	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.1205C>A	p.Pro402Gln	p.P402Q	ENST00000311635	8/9	97	71	26	109	109	0	strelka-varscan-mutect	FBXO31,missense_variant,p.Pro402Gln,ENST00000311635,NM_024735.4;FBXO31,missense_variant,p.Pro230Gln,ENST00000618298,NM_001282683.1;RP11-178L8.4,missense_variant,p.Pro66Gln,ENST00000568879,;FBXO31,downstream_gene_variant,,ENST00000563113,;FBXO31,missense_variant,p.Gln111Lys,ENST00000565593,;	T	ENST00000311635	Transcript	missense_variant	1218/5934	1205/1620	402/539	P/Q	cCa/cAa		1		-1	FBXO31	HGNC	HGNC:16510	protein_coding	YES	CCDS32501.1	ENSP00000310841	Q5XUX0		UPI000021D235	NM_024735.4	tolerated(0.4)		8/9																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	87334078	87334078	G	T	1	0	0	0	0	1	0	0	0	5604	1348	47	2		2	FBXO31	16	87334078	Missense_Mutation	SNP	G	C3L-02219_TP	57264705	87334078	3004267	69	9055											
KRTAP9-4	0	.	GRCh38	chr17	41250023	41250023	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtgcacctgtgtactgCagaagaacctgctactaccc	9	10	8	14	0	0	2	0	0	0	2	1	2	1	2	4	0	7	4	4	0	5	3	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.303C>T	p.=	p.C101C	ENST00000334109	1/1	535	472	63	714	714	0	strelka-varscan-mutect	KRTAP9-4,synonymous_variant,p.=,ENST00000334109,NM_033191.2;	T	ENST00000334109	Transcript	synonymous_variant	337/967	303/465	101/154	C	tgC/tgT		1		1	KRTAP9-4	HGNC	HGNC:18902	protein_coding	YES	CCDS11386.1	ENSP00000334922	Q9BYQ2		UPI000013F6DA	NM_033191.2			1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF65,Pfam_domain:PF13885																	LOW	1	SNV				1										PASS		.	.												T	2	4	30	41250023	41250023	C	T	1	0	0	0	0	0	0	0	1	8472	718	25	3		3	KRTAP9-4	17	41250023	Silent	SNP	C	C3L-02219_TP		41250023	42007418	70	9056											
MYCBPAP	0	.	GRCh38	chr17	50517309	50517309	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagcaacacattcctcgccTtactgaaaaggaagataaac	16	9	6	10	1	0	2	0	1	0	1	2	3	1	3	2	1	4	1	2	1	8	4	novel		C3L-02219_TP	C3L-02219_NB	T	T																c.350T>C	p.Leu117Pro	p.L117P	ENST00000323776	3/19	261	202	59	303	303	0	strelka-varscan-mutect	MYCBPAP,missense_variant,p.Leu117Pro,ENST00000323776,NM_032133.4;MYCBPAP,missense_variant,p.Leu80Pro,ENST00000436259,;MYCBPAP,missense_variant,p.Leu117Pro,ENST00000452039,;MYCBPAP,downstream_gene_variant,,ENST00000576179,;MYCBPAP,upstream_gene_variant,,ENST00000468821,;MYCBPAP,missense_variant,p.Leu92Pro,ENST00000437498,;MYCBPAP,3_prime_UTR_variant,,ENST00000458692,;MYCBPAP,non_coding_transcript_exon_variant,,ENST00000470609,;MYCBPAP,upstream_gene_variant,,ENST00000459754,;	C	ENST00000323776	Transcript	missense_variant	512/3186	350/2955	117/984	L/P	cTt/cCt		1		1	MYCBPAP	HGNC	HGNC:19677	protein_coding	YES	CCDS32680.2	ENSP00000323184	Q8TBZ2	A0A140VK87	UPI0000E5A00B	NM_032133.4	tolerated(0.28)		3/19																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	30	50517309	50517309	T	C	1	0	0	0	0	1	0	0	0	10019	1609	56	5		5	MYCBPAP	17	50517309	Missense_Mutation	SNP	T	C3L-02219_TP	9267286	50517309	32740132	71	9057											
CCDC137	0	.	GRCh38	chr17	81670444	81670444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagtctgagcagaaaaaagCaaaaaaagcgtgagtggagg	19	4	14	4	1	1	3	0	2	1	1	1	5	1	4	0	2	3	2	0	2	7	0	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.488C>A	p.Ala163Glu	p.A163E	ENST00000329214	3/6	120	111	9	120	118	2	varscan-mutect	CCDC137,missense_variant,p.Ala163Glu,ENST00000329214,NM_199287.2;CCDC137,missense_variant,p.Ala172Glu,ENST00000574107,;OXLD1,upstream_gene_variant,,ENST00000571503,NM_001304995.1,NM_001304999.1;OXLD1,upstream_gene_variant,,ENST00000374741,NM_001039842.2;OXLD1,upstream_gene_variant,,ENST00000573786,;CCDC137,missense_variant,p.Ala163Glu,ENST00000575223,;CCDC137,3_prime_UTR_variant,,ENST00000571916,;OXLD1,upstream_gene_variant,,ENST00000575963,;OXLD1,upstream_gene_variant,,ENST00000571757,;OXLD1,upstream_gene_variant,,ENST00000575992,;OXLD1,upstream_gene_variant,,ENST00000571092,;CCDC137,downstream_gene_variant,,ENST00000574200,;CCDC137,upstream_gene_variant,,ENST00000572531,;	A	ENST00000329214	Transcript	missense_variant	891/2468	488/870	163/289	A/E	gCa/gAa		1		1	CCDC137	HGNC	HGNC:33451	protein_coding	YES	CCDS42400.1	ENSP00000329360	Q6PK04		UPI00001983C7	NM_199287.2	tolerated(1)		3/6		hmmpanther:PTHR21838,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1435124182	.												A	3	1	30	81670444	81670444	C	A	1	0	0	0	0	1	0	0	0	2460	710	25	2		2	CCDC137	17	81670444	Missense_Mutation	SNP	C	C3L-02219_TP	31153135	81670444	1586997	72	9058											
SHD	0	.	GRCh38	chr19	4282886	4282886	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggaagccgacactgAgtatttagacccctttgatg	10	10	11	10	1	0	3	0	2	0	1	0	5	0	4	3	1	2	3	3	1	3	4	novel		C3L-02219_TP	C3L-02219_NB	A	A																c.314A>T	p.Glu105Val	p.E105V	ENST00000543264	2/6	153	139	14	171	171	0	strelka-varscan-mutect	SHD,missense_variant,p.Glu105Val,ENST00000543264,NM_020209.3;SHD,missense_variant,p.Glu105Val,ENST00000599689,;SHD,upstream_gene_variant,,ENST00000600475,;SHD,upstream_gene_variant,,ENST00000593383,;	T	ENST00000543264	Transcript	missense_variant	1777/2577	314/1023	105/340	E/V	gAg/gTg		1		1	SHD	HGNC	HGNC:30633	protein_coding	YES	CCDS12125.1	ENSP00000446058	Q96IW2		UPI000007030D	NM_020209.3	deleterious(0.01)		2/6		hmmpanther:PTHR15127,hmmpanther:PTHR15127:SF33																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	4282886	4282886	A	T	1	0	0	0	0	1	0	0	0	14535	304	11	4		4	SHD	19	4282886	Missense_Mutation	SNP	A	C3L-02219_TP		4282886	54334730	73	9059											
MUC16	0	.	GRCh38	chr19	8972740	8972740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagtggacccacttctgattCctccagagctagccataccc	9	9	8	15	0	1	2	0	1	1	1	3	4	3	3	5	1	3	1	5	1	2	4			C3L-02219_TP	C3L-02219_NB	C	C																c.8399G>A	p.Gly2800Glu	p.G2800E	ENST00000397910	1/84	170	154	16	239	239	0	strelka-varscan-mutect	MUC16,missense_variant,p.Gly2800Glu,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	8603/43816	8399/43524	2800/14507	G/E	gGa/gAa	COSM3543424,COSM3543425	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84													1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1199809085	.												T	3	4	30	8972740	8972740	C	T	1	0	0	0	0	1	0	0	0	9972	855	30	3		3	MUC16	19	8972740	Missense_Mutation	SNP	C	C3L-02219_TP	4689854	8972740	49644876	74	9060											
RLN3	0	.	GRCh38	chr19	14030325	14030325	+	Missense_Mutation	SNP	C	C	A																															catgctcagtcagcccagctCccaaatgtaccaggtcctca																								novel		C3L-02219_TP	C3L-02219_NB	C	C																c.271C>A	p.Pro91Thr	p.P91T	ENST00000585987	2/3	193	181	12	223	223	0	strelka-mutect	RLN3,missense_variant,p.Pro91Thr,ENST00000585987,;RLN3,intron_variant,,ENST00000431365,NM_080864.2;IL27RA,upstream_gene_variant,,ENST00000263379,NM_004843.3;CTB-55O6.4,downstream_gene_variant,,ENST00000590528,;	A	ENST00000585987	Transcript	missense_variant	271/541	271/330	91/109	P/T	Ccc/Acc		1		1	RLN3	HGNC	HGNC:17135	protein_coding			ENSP00000467130		K7ENX1	UPI0002840B17		tolerated_low_confidence(0.05)		2/3																			MODERATE		SNV	1			1										PASS		.	.												A	3	1	30	14030325	14030325	C	A	1	0	0	0	0	1	0	0	0	13569	855	30	2		2	RLN3	19	14030325	Missense_Mutation	SNP	C	C3L-02219_TP	5057585	14030325	44587291	75	9061	206	2									
RLN3	0	.	GRCh38	chr19	14030326	14030326	+	Missense_Mutation	SNP	C	C	A																															atgctcagtcagcccagctcCcaaatgtaccaggtcctcaa																								novel		C3L-02219_TP	C3L-02219_NB	C	C																c.272C>A	p.Pro91His	p.P91H	ENST00000585987	2/3	192	180	12	219	219	0	strelka-mutect	RLN3,missense_variant,p.Pro91His,ENST00000585987,;RLN3,intron_variant,,ENST00000431365,NM_080864.2;IL27RA,upstream_gene_variant,,ENST00000263379,NM_004843.3;CTB-55O6.4,downstream_gene_variant,,ENST00000590528,;	A	ENST00000585987	Transcript	missense_variant	272/541	272/330	91/109	P/H	cCc/cAc		1		1	RLN3	HGNC	HGNC:17135	protein_coding			ENSP00000467130		K7ENX1	UPI0002840B17		deleterious_low_confidence(0.03)		2/3																			MODERATE		SNV	1			1										PASS		.	.												A	3	1	30	14030326	14030326	C	A	1	0	0	0	0	1	0	0	0	13569	623	22	2		2	RLN3	19	14030326	Missense_Mutation	SNP	C	C3L-02219_TP	1	14030326	44587290	76	9062	206	2									
OR10H5	0	.	GRCh38	chr19	15794343	15794343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccttcctggcctgtgccAgtcagatgttcttctccttc	3	15	8	15	1	3	1	1	0	2	1	7	1	4	1	5	1	1	1	5	1	0	4	novel		C3L-02219_TP	C3L-02219_NB	A	A																c.295A>G	p.Ser99Gly	p.S99G	ENST00000308940	1/1	182	162	20	215	215	0	varscan-mutect	OR10H5,missense_variant,p.Ser99Gly,ENST00000308940,NM_001004466.1;	G	ENST00000308940	Transcript	missense_variant	393/1132	295/948	99/315	S/G	Agt/Ggt		1		1	OR10H5	HGNC	HGNC:15389	protein_coding	YES	CCDS32940.1	ENSP00000310704	Q8NGA6	A0A126GWE9	UPI0000041C8F	NM_001004466.1	tolerated(0.06)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF122,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	30	15794343	15794343	A	G	1	0	0	0	0	1	0	0	0	10986	188	7	5		5	OR10H5	19	15794343	Missense_Mutation	SNP	A	C3L-02219_TP	1764017	15794343	42823273	77	9063											
ZNF729	0	.	GRCh38	chr19	22315774	22315774	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcagcccttatgaaacAtaaggtaattcatactggag	13	13	7	8	0	2	1	2	1	1	0	3	2	2	2	1	2	3	1	1	2	5	6	novel		C3L-02219_TP	C3L-02219_NB	A	A																c.2357A>T	p.His786Leu	p.H786L	ENST00000601693	4/4	264	240	24	378	378	0	strelka-varscan-mutect	ZNF729,missense_variant,p.His786Leu,ENST00000601693,NM_001242680.1;	T	ENST00000601693	Transcript	missense_variant	2475/3877	2357/3759	786/1252	H/L	cAt/cTt		1		1	ZNF729	HGNC	HGNC:32464	protein_coding	YES	CCDS59368.1	ENSP00000469582	A6NN14		UPI000042600C	NM_001242680.1	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	30	22315774	22315774	A	T	1	0	0	0	0	1	0	0	0	18703	217	8	4		4	ZNF729	19	22315774	Missense_Mutation	SNP	A	C3L-02219_TP	6521431	22315774	36301842	78	9064											
C19orf47	0	.	GRCh38	chr19	40333880	40333881	+	Frame_Shift_Ins	INS	-	-	G																															acggcgaatttcgcctgcaaINSgggggctagggctgcagggt																								novel		C3L-02219_TP	C3L-02219_NB	-	-																c.382dupC	p.Leu128ProfsTer23	p.L128Pfs*23	ENST00000582783	5/9	131	117	14	141	140	1	sindel-varindel-pindel	C19orf47,frameshift_variant,p.Leu128ProfsTer23,ENST00000582783,NM_001256441.1,NM_001256440.1;C19orf47,frameshift_variant,p.Leu61ProfsTer23,ENST00000392035,;C19orf47,frameshift_variant,p.Leu91ProfsTer23,ENST00000580606,;C19orf47,frameshift_variant,p.Leu61ProfsTer23,ENST00000582006,;C19orf47,frameshift_variant,p.Leu101ProfsTer11,ENST00000357884,;C19orf47,3_prime_UTR_variant,,ENST00000580977,;	G	ENST00000582783	Transcript	frameshift_variant	395-396/3628	382-383/1269	128/422	L/PX	ctt/cCtt		1		-1	C19orf47	HGNC	HGNC:26723	protein_coding	YES	CCDS58662.1	ENSP00000463159	Q8N9M1		UPI000006FE9B	NM_001256441.1,NM_001256440.1			5/9		hmmpanther:PTHR21359,hmmpanther:PTHR21359:SF1																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	30	40333880	40333880	-	G	1	0	1	1	0	0	0	0	0	1913	72	3	0		0	C19orf47	19	40333880	Frame_Shift_Ins	INS	-	C3L-02219_TP	18018106	40333880	18283736	79	9065											
PTH2	0	.	GRCh38	chr19	49423276	49423276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgccccagggcaccaccaGcagcagcagcagcagcagca	12	0	12	17	1	0	0	0	0	0	0	0	1	0	0	4	1	7	8	4	1	0	0	rs200733272		C3L-02219_TP	C3L-02219_NB	G	G																c.64C>G	p.Leu22Val	p.L22V	ENST00000270631	1/2	170	160	10	170	169	1	strelka-varscan-mutect	PTH2,missense_variant,p.Leu22Val,ENST00000270631,NM_178449.3;GFY,upstream_gene_variant,,ENST00000576655,;GFY,upstream_gene_variant,,ENST00000610896,NM_001195256.1;	C	ENST00000270631	Transcript	missense_variant	166/459	64/303	22/100	L/V	Ctg/Gtg	rs200733272	1		-1	PTH2	HGNC	HGNC:30828	protein_coding	YES	CCDS12763.1	ENSP00000270631	Q96A98		UPI000006DF4C	NM_178449.3	deleterious_low_confidence(0.02)		1/2		hmmpanther:PTHR28585,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs200733272	.												C	3	2	30	49423276	49423276	G	C	1	0	0	0	0	1	0	0	0	12915	962	34	4		4	PTH2	19	49423276	Missense_Mutation	SNP	G	C3L-02219_TP	9089396	49423276	9194340	80	9066											
SHANK1	0	.	GRCh38	chr19	50662008	50662008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcccggtcgatgttcatgCggtggcccaccctggtcaca	6	8	13	14	3	2	0	2	0	0	0	3	2	2	0	3	4	2	1	3	4	0	1			C3L-02219_TP	C3L-02219_NB	C	C																c.6443G>T	p.Arg2148Leu	p.R2148L	ENST00000293441	23/23	237	205	32	263	262	1	strelka-varscan-mutect	SHANK1,missense_variant,p.Arg2148Leu,ENST00000293441,NM_016148.2;SHANK1,missense_variant,p.Arg2156Leu,ENST00000391814,;SHANK1,missense_variant,p.Arg2139Leu,ENST00000359082,;SHANK1,missense_variant,p.Arg1535Leu,ENST00000391813,;C19orf81,downstream_gene_variant,,ENST00000425202,NM_001195076.1;C19orf81,downstream_gene_variant,,ENST00000458538,;C19orf81,downstream_gene_variant,,ENST00000490451,;SHANK1,downstream_gene_variant,,ENST00000483981,;SHANK1,downstream_gene_variant,,ENST00000468654,;	A	ENST00000293441	Transcript	missense_variant	6462/6643	6443/6486	2148/2161	R/L	cGc/cTc	COSM4725726,COSM4725727	1		-1	SHANK1	HGNC	HGNC:15474	protein_coding	YES	CCDS12799.1	ENSP00000293441	Q9Y566		UPI000013E109	NM_016148.2	deleterious(0)		23/23		PROSITE_profiles:PS50105,hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135,Pfam_domain:PF00536,Gene3D:1.10.150.50,SMART_domains:SM00454,Superfamily_domains:SSF47769											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1259178592	.												A	3	1	30	50662008	50662008	C	A	1	0	0	0	0	1	0	0	0	14523	768	27	1		1	SHANK1	19	50662008	Missense_Mutation	SNP	C	C3L-02219_TP	1238732	50662008	7955608	81	9067											
NLRP11	0	.	GRCh38	chr19	55809640	55809640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcctcatgtacaagctGgagggctgccgacgccctct	7	10	10	14	2	3	0	2	0	1	0	4	2	4	1	3	2	3	3	3	2	2	2	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.970C>A	p.Gln324Lys	p.Q324K	ENST00000589093	3/10	208	181	27	251	251	0	strelka-varscan-mutect	NLRP11,missense_variant,p.Gln324Lys,ENST00000589093,NM_145007.3;NLRP11,missense_variant,p.Gln324Lys,ENST00000589824,;NLRP11,missense_variant,p.Gln225Lys,ENST00000592953,NM_001297743.1;NLRP11,downstream_gene_variant,,ENST00000593208,;NLRP11,missense_variant,p.Gln225Lys,ENST00000590409,;NLRP11,missense_variant,p.Gln324Lys,ENST00000593244,;	T	ENST00000589093	Transcript	missense_variant	1064/3417	970/3102	324/1033	Q/K	Cag/Aag		1		-1	NLRP11	HGNC	HGNC:22945	protein_coding	YES	CCDS12935.1	ENSP00000466285	P59045		UPI000013ED9D	NM_145007.3	tolerated(1)		3/10		hmmpanther:PTHR24106:SF62,hmmpanther:PTHR24106																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	55809640	55809640	G	T	1	0	0	0	0	1	0	0	0	10510	1357	47	2		2	NLRP11	19	55809640	Missense_Mutation	SNP	G	C3L-02219_TP	5147632	55809640	2807976	82	9068											
NLRP5	0	.	GRCh38	chr19	56028433	56028433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagcactgtccgtatttgCggaaaattcgggtggatgtc	8	12	12	9	3	0	0	0	0	0	0	4	2	2	2	2	3	2	2	2	3	3	3	rs771396943		C3L-02219_TP	C3L-02219_NB	C	C																c.2200C>T	p.Arg734Trp	p.R734W	ENST00000390649	7/15	191	162	29	241	241	0	strelka-varscan-mutect	NLRP5,missense_variant,p.Arg734Trp,ENST00000390649,NM_153447.4;NLRP5,missense_variant,p.Arg734Trp,ENST00000621651,;	T	ENST00000390649	Transcript	missense_variant	2200/3888	2200/3603	734/1200	R/W	Cgg/Tgg	rs771396943,COSM2150536	1		1	NLRP5	HGNC	HGNC:21269	protein_coding	YES	CCDS12938.1	ENSP00000375063	P59047		UPI00001AEEBD	NM_153447.4	deleterious(0.05)		7/15		Gene3D:3.80.10.10											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs771396943	.												T	3	4	30	56028433	56028433	C	T	1	0	0	0	0	1	0	0	0	10518	759	27	1		1	NLRP5	19	56028433	Missense_Mutation	SNP	C	C3L-02219_TP	218793	56028433	2589183	83	9069											
ZNF814	0	.	GRCh38	chr19	57874749	57874749	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatggattctccacagctgTagtgagctcccccacactga	9	10	8	14	0	2	2	1	2	1	0	4	3	3	3	3	1	2	3	3	1	1	2	novel		C3L-02219_TP	C3L-02219_NB	T	T																c.641A>G	p.Tyr214Cys	p.Y214C	ENST00000435989	3/3	347	306	41	449	449	0	strelka-varscan-mutect	ZNF814,missense_variant,p.Tyr214Cys,ENST00000435989,NM_001144989.1;ZNF814,missense_variant,p.Tyr214Cys,ENST00000614383,;ZNF814,intron_variant,,ENST00000597832,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,intron_variant,,ENST00000595048,;ZNF814,downstream_gene_variant,,ENST00000597807,;ZNF814,intron_variant,,ENST00000594629,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,intron_variant,,ENST00000595894,;ZNF814,upstream_gene_variant,,ENST00000594159,;CTD-2583A14.9,downstream_gene_variant,,ENST00000602124,;	C	ENST00000435989	Transcript	missense_variant	876/3146	641/2568	214/855	Y/C	tAc/tGc		1		-1	ZNF814	HGNC	HGNC:33258	protein_coding	YES	CCDS46212.1	ENSP00000410545	B7Z6K7		UPI0001662BAD	NM_001144989.1	tolerated(0.13)		3/3																			MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	30	57874749	57874749	T	C	1	0	0	0	0	1	0	0	0	18762	1638	57	5		5	ZNF814	19	57874749	Missense_Mutation	SNP	T	C3L-02219_TP	1846316	57874749	742867	84	9070											
TMC2	0	.	GRCh38	chr20	2624320	2624320	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagagaccattgaaaacgatTtcccaaccttcctgggcaag	14	8	8	11	1	0	2	0	1	0	1	2	4	2	2	4	1	2	1	4	1	5	3	novel		C3L-02219_TP	C3L-02219_NB	T	T																c.2230T>A	p.Phe744Ile	p.F744I	ENST00000358864	17/20	118	86	32	183	182	1	strelka-varscan-mutect	TMC2,missense_variant,p.Phe744Ile,ENST00000358864,NM_080751.2;	A	ENST00000358864	Transcript	missense_variant	2245/3169	2230/2721	744/906	F/I	Ttc/Atc		1		1	TMC2	HGNC	HGNC:16527	protein_coding	YES	CCDS13029.2	ENSP00000351732	Q8TDI7		UPI0000246C98	NM_080751.2	tolerated(0.06)		17/20		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	30	2624320	2624320	T	A	1	0	0	0	0	1	0	0	0	16431	1841	64	4		4	TMC2	20	2624320	Missense_Mutation	SNP	T	C3L-02219_TP		2624320	61819847	85	9071											
MACROD2	0	.	GRCh38	chr20	15862807	15862807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatctacaaaaagaaaatGaatgagtttttctccgtagg	18	11	7	5	1	2	3	0	2	2	1	3	3	2	3	1	1	1	2	1	1	9	4	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.708G>T	p.Met236Ile	p.M236I	ENST00000217246	9/17	97	90	7	143	142	1	strelka-varscan-mutect	MACROD2,start_lost,p.Met1?,ENST00000402914,NM_001033087.1;MACROD2,start_lost,p.Met1?,ENST00000378058,;MACROD2,missense_variant,p.Met236Ile,ENST00000217246,NM_080676.5;	T	ENST00000217246	Transcript	missense_variant	1103/4994	708/1278	236/425	M/I	atG/atT		1		1	MACROD2	HGNC	HGNC:16126	protein_coding	YES	CCDS13120.2	ENSP00000217246	A1Z1Q3		UPI00005B2E12	NM_080676.5	tolerated(0.13)		9/17		Gene3D:3.40.220.10,PROSITE_profiles:PS51154,hmmpanther:PTHR11106,hmmpanther:PTHR11106:SF67,Superfamily_domains:SSF52949																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	30	15862807	15862807	G	T	1	0	0	0	0	1	0	0	0	9062	1290	45	2		2	MACROD2	20	15862807	Missense_Mutation	SNP	G	C3L-02219_TP	13238487	15862807	48581360	86	9072											
KIAA1755	0	.	GRCh38	chr20	38223558	38223558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatccccccaggggggtCggccttctcgaattcctcga	5	9	11	16	3	1	0	0	0	1	0	6	2	3	0	5	4	1	1	5	4	1	2	rs768672282		C3L-02219_TP	C3L-02219_NB	C	C																c.2248G>T	p.Asp750Tyr	p.D750Y	ENST00000279024	9/14	86	74	12	131	130	1	strelka-varscan-mutect	KIAA1755,missense_variant,p.Asp750Tyr,ENST00000279024,NM_001029864.1;KIAA1755,missense_variant,p.Asp49Tyr,ENST00000435901,;KIAA1755,downstream_gene_variant,,ENST00000496900,;KIAA1755,upstream_gene_variant,,ENST00000484362,;	A	ENST00000279024	Transcript	missense_variant	2520/6429	2248/3603	750/1200	D/Y	Gac/Tac	rs768672282,COSM1212298	1		-1	KIAA1755	HGNC	HGNC:29372	protein_coding	YES	CCDS33467.1	ENSP00000279024	Q5JYT7		UPI000041AADF	NM_001029864.1	deleterious(0)		9/14		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF125											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs768672282	.												A	3	1	30	38223558	38223558	C	A	1	0	0	0	0	1	0	0	0	8128	884	31	1		1	KIAA1755	20	38223558	Missense_Mutation	SNP	C	C3L-02219_TP	22360751	38223558	26220609	87	9073											
SLC2A10	0	.	GRCh38	chr20	46725350	46725350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggctggtcctgggccGcgctgtggttggcttcgcca	1	10	17	13	3	0	0	0	0	0	0	2	0	1	0	4	6	0	4	4	6	0	2	rs753280877		C3L-02219_TP	C3L-02219_NB	G	G																c.314G>T	p.Arg105Leu	p.R105L	ENST00000359271	2/5	337	287	50	437	437	0	strelka-varscan-mutect	SLC2A10,missense_variant,p.Arg105Leu,ENST00000359271,NM_030777.3;SLC2A10,non_coding_transcript_exon_variant,,ENST00000611837,;	T	ENST00000359271	Transcript	missense_variant	564/4389	314/1626	105/541	R/L	cGc/cTc	rs753280877	1		1	SLC2A10	HGNC	HGNC:13444	protein_coding	YES	CCDS13402.1	ENSP00000352216	O95528		UPI000012BC8D	NM_030777.3	deleterious(0)		2/5		PROSITE_profiles:PS50850,hmmpanther:PTHR23500,hmmpanther:PTHR23500:SF81,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473,Prints_domain:PR00171										likely_pathogenic							MODERATE	1	SNV	1		1	1										PASS		rs753280877	.												T	3	4	30	46725350	46725350	G	T	1	0	0	0	0	1	0	0	0	14809	1087	38	1		1	SLC2A10	20	46725350	Missense_Mutation	SNP	G	C3L-02219_TP	8501792	46725350	17718817	88	9074											
BACH1	0	.	GRCh38	chr21	29342410	29342410	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttcacagcaaagtgaaaaGgagagcttgttgaaggaaag	17	7	12	5	0	1	3	1	2	0	1	1	5	1	4	0	2	2	3	0	2	5	3	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.1788G>A	p.=	p.K596K	ENST00000399921	5/5	93	84	9	118	117	1	strelka-varscan-mutect	BACH1,synonymous_variant,p.=,ENST00000399921,NM_206866.2;BACH1,synonymous_variant,p.=,ENST00000286800,NM_001186.3;BACH1,intron_variant,,ENST00000422809,;BACH1,intron_variant,,ENST00000468059,;	A	ENST00000399921	Transcript	synonymous_variant	2031/5769	1788/2211	596/736	K	aaG/aaA		1		1	BACH1	HGNC	HGNC:935	protein_coding	YES	CCDS13585.1	ENSP00000382805	O14867		UPI000012673F	NM_206866.2			5/5		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50217,Pfam_domain:PF03131,Gene3D:1.20.5.370,SMART_domains:SM00338,Superfamily_domains:SSF57959																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	30	29342410	29342410	G	A	1	0	0	0	0	0	0	0	1	1441	991	35	3		3	BACH1	21	29342410	Silent	SNP	G	C3L-02219_TP		29342410	17367573	89	9075											
LZTR1	0	.	GRCh38	chr22	20989624	20989624	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactggtctgtcctaatacaGgttgaatgacatgtggacaa	12	11	10	8	0	1	2	0	2	1	0	2	3	2	3	1	3	1	1	1	3	4	3	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.594-1G>T		p.X198_splice	ENST00000215739		186	176	10	251	250	1	strelka-varscan-mutect	LZTR1,splice_acceptor_variant,,ENST00000215739,NM_006767.3;LZTR1,splice_acceptor_variant,,ENST00000479606,;LZTR1,splice_acceptor_variant,,ENST00000480895,;LZTR1,upstream_gene_variant,,ENST00000497716,;LZTR1,splice_acceptor_variant,,ENST00000414985,;LZTR1,splice_acceptor_variant,,ENST00000443265,;LZTR1,upstream_gene_variant,,ENST00000495142,;LZTR1,upstream_gene_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000415354,;LZTR1,upstream_gene_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000461510,;LZTR1,downstream_gene_variant,,ENST00000493460,;	T	ENST00000215739	Transcript	splice_acceptor_variant	-/4572	594/2523	198/840				1		1	LZTR1	HGNC	HGNC:6742	protein_coding	YES	CCDS33606.1	ENSP00000215739	Q8N653		UPI000013C695	NM_006767.3				6/20																		HIGH	1	SNV	1			1										PASS		rs1401166273	.												T	5	4	30	20989624	20989624	G	T	1	0	0	0	0	0	0	1	0	9050	1014	35	2		2	LZTR1	22	20989624	Splice_Site	SNP	G	C3L-02219_TP		20989624	29828844	90	9076											
PRR14L	0	.	GRCh38	chr22	31714461	31714461	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatgatttttttattttGagaaagtccactgtagaagc	12	16	7	6	0	1	3	1	2	0	2	2	4	2	3	1	0	1	1	1	0	4	7	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.3378C>A	p.=	p.L1126L	ENST00000327423	4/9	176	167	9	236	234	2	varscan-mutect	PRR14L,synonymous_variant,p.=,ENST00000327423,NM_173566.2;PRR14L,upstream_gene_variant,,ENST00000330495,;PRR14L,downstream_gene_variant,,ENST00000461722,;PRR14L,upstream_gene_variant,,ENST00000492705,;PRR14L,upstream_gene_variant,,ENST00000431684,;	T	ENST00000327423	Transcript	synonymous_variant	3568/10826	3378/6456	1126/2151	L	ctC/ctA		1		-1	PRR14L	HGNC	HGNC:28738	protein_coding	YES	CCDS13900.2	ENSP00000331845	Q5THK1		UPI0000207582	NM_173566.2			4/9		hmmpanther:PTHR14522,hmmpanther:PTHR14522:SF0																	LOW	1	SNV	5			1										PASS		rs1456322497	.												T	2	4	30	31714461	31714461	G	T	1	0	0	0	0	0	0	0	1	12722	1277	45	2		2	PRR14L	22	31714461	Silent	SNP	G	C3L-02219_TP	10724837	31714461	19104007	91	9077											
WBP2NL	0	.	GRCh38	chr22	42026811	42026811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggatatggagccccacctcCcggatacggagccccacctg	9	5	11	16	2	0	0	0	0	0	0	1	4	1	4	7	4	3	0	7	4	2	2	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.560C>T	p.Pro187Leu	p.P187L	ENST00000328823	6/6	141	132	9	188	185	3	varscan-mutect	WBP2NL,missense_variant,p.Pro187Leu,ENST00000328823,NM_152613.2;WBP2NL,missense_variant,p.Pro113Leu,ENST00000543212,;WBP2NL,non_coding_transcript_exon_variant,,ENST00000475341,;WBP2NL,upstream_gene_variant,,ENST00000487176,;WBP2NL,missense_variant,p.Pro187Leu,ENST00000329620,;WBP2NL,missense_variant,p.Pro151Leu,ENST00000412113,;WBP2NL,missense_variant,p.Pro187Leu,ENST00000436265,;WBP2NL,upstream_gene_variant,,ENST00000470812,;WBP2NL,downstream_gene_variant,,ENST00000445185,;	T	ENST00000328823	Transcript	missense_variant	591/2255	560/930	187/309	P/L	cCc/cTc		1		1	WBP2NL	HGNC	HGNC:28389	protein_coding	YES	CCDS14029.1	ENSP00000332983	Q6ICG8		UPI00001AF89A	NM_152613.2	tolerated(0.13)		6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR31606,hmmpanther:PTHR31606:SF2,Pfam_domain:PF10349																	MODERATE	1	SNV	1			1										PASS		rs879025008	.												T	3	4	30	42026811	42026811	C	T	1	0	0	0	0	1	0	0	0	17821	623	22	3		3	WBP2NL	22	42026811	Missense_Mutation	SNP	C	C3L-02219_TP	10312350	42026811	8791657	92	9078											
MAPK8IP2	0	.	GRCh38	chr22	50604766	50604766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacagtgcggggtccccCgggggcaggggcacgggccc	5	2	21	13	3	0	0	0	0	0	0	1	2	1	1	3	8	1	2	3	8	0	0	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.1467C>T	p.=	p.P489P	ENST00000329492	5/12	135	122	13	173	173	0	strelka-mutect	MAPK8IP2,synonymous_variant,p.=,ENST00000329492,NM_012324.4;CHKB,upstream_gene_variant,,ENST00000463053,;MAPK8IP2,non_coding_transcript_exon_variant,,ENST00000008876,;	T	ENST00000329492	Transcript	synonymous_variant	1601/3381	1467/2475	489/824	P	ccC/ccT		1		1	MAPK8IP2	HGNC	HGNC:6883	protein_coding	YES	CCDS74886.1	ENSP00000330572	Q13387		UPI000012DAB7	NM_012324.4			5/12																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	30	50604766	50604766	C	T	1	0	0	0	0	0	0	0	1	9209	639	23	1		1	MAPK8IP2	22	50604766	Silent	SNP	C	C3L-02219_TP	8577955	50604766	213702	93	9079											
RBM10	0	.	GRCh38	chrX	47179318	47179318	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcccactgcccctgacaGaggcagagcagaagctgccc	9	5	11	16	0	1	4	0	1	1	3	2	4	1	4	4	1	4	3	4	1	1	0	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.920-1G>T		p.X307_splice	ENST00000329236		239	97	142	179	179	0	strelka-varscan-mutect	RBM10,splice_acceptor_variant,,ENST00000377604,NM_005676.4,NM_001204467.1;RBM10,splice_acceptor_variant,,ENST00000329236,NM_001204468.1;RBM10,splice_acceptor_variant,,ENST00000345781,NM_001204466.1;RBM10,splice_acceptor_variant,,ENST00000628161,NM_152856.2;RBM10,non_coding_transcript_exon_variant,,ENST00000478410,;RBM10,intron_variant,,ENST00000496012,;	T	ENST00000329236	Transcript	splice_acceptor_variant	-/3201	920/2988	307/995				1		1	RBM10	HGNC	HGNC:9896	protein_coding	YES	CCDS75969.1	ENSP00000328848		A0A0A0MR66	UPI0000211F0E	NM_001204468.1				8/23																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	30	47179318	47179318	G	T	1	0	0	0	0	0	0	1	0	13277	956	33	2		2	RBM10	23	47179318	Splice_Site	SNP	G	C3L-02219_TP		47179318	108861577	94	9080											
WAS	0	.	GRCh38	chrX	48688893	48688893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctccaccccctggagctGgtgggccacccatgccacca	6	5	9	21	0	0	0	0	0	0	0	1	1	1	1	9	3	2	1	9	3	0	0	novel		C3L-02219_TP	C3L-02219_NB	G	G																c.1165G>T	p.Gly389Cys	p.G389C	ENST00000376701	10/12	54	47	7	45	45	0	strelka-varscan-mutect	WAS,missense_variant,p.Gly389Cys,ENST00000376701,NM_000377.2;WAS,downstream_gene_variant,,ENST00000450772,;WAS,non_coding_transcript_exon_variant,,ENST00000474174,;WAS,downstream_gene_variant,,ENST00000483750,;WAS,downstream_gene_variant,,ENST00000465982,;WAS,upstream_gene_variant,,ENST00000470107,;WAS,downstream_gene_variant,,ENST00000490627,;	T	ENST00000376701	Transcript	missense_variant	1240/1849	1165/1509	389/502	G/C	Ggt/Tgt		1		1	WAS	HGNC	HGNC:12731	protein_coding	YES	CCDS14303.1	ENSP00000365891	P42768	A0A024QYX8	UPI000003CA0A	NM_000377.2	deleterious(0.01)		10/12		Low_complexity_(Seg):seg,hmmpanther:PTHR23202,hmmpanther:PTHR23202:SF35																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	30	48688893	48688893	G	T	1	0	0	0	0	1	0	0	0	17811	1348	47	2		2	WAS	23	48688893	Missense_Mutation	SNP	G	C3L-02219_TP	1509575	48688893	107352002	95	9081											
CLCN5	0	.	GRCh38	chrX	50088754	50088754	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctatagcaggtcgactTctaggagtaggaatggaaca	12	9	14	6	1	1	0	0	0	1	0	2	4	1	3	0	5	3	3	0	5	6	5	novel		C3L-02219_TP	C3L-02219_NB	T	T																c.1614T>C	p.=	p.L538L	ENST00000376088	12/15	253	205	48	247	247	0	strelka-varscan-mutect	CLCN5,synonymous_variant,p.=,ENST00000376088,NM_001127899.3,NM_001127898.3;CLCN5,synonymous_variant,p.=,ENST00000307367,NM_001282163.1;CLCN5,synonymous_variant,p.=,ENST00000376091,;CLCN5,synonymous_variant,p.=,ENST00000376108,NM_000084.4;	C	ENST00000376088	Transcript	synonymous_variant	2255/10108	1614/2451	538/816	L	ctT/ctC		1		1	CLCN5	HGNC	HGNC:2023	protein_coding	YES	CCDS48115.1	ENSP00000365256	P51795		UPI0000212052	NM_001127899.3,NM_001127898.3			12/15		Transmembrane_helices:TMhelix,hmmpanther:PTHR11689:SF63,hmmpanther:PTHR11689,Gene3D:1otsB00,Pfam_domain:PF00654,Superfamily_domains:SSF81340,Prints_domain:PR00762																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	30	50088754	50088754	T	C	1	0	0	0	0	0	0	0	1	3230	1770	62	5		5	CLCN5	23	50088754	Silent	SNP	T	C3L-02219_TP	1399861	50088754	105952141	96	9082											
EDA	0	.	GRCh38	chrX	69957044	69957044	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatggccctattgaatttCttcttccctgatgaaaagcc	10	13	7	11	0	2	4	0	3	2	1	3	4	3	4	3	1	1	0	3	1	4	5	novel		C3L-02219_TP	C3L-02219_NB	C	C																c.414C>G	p.Phe138Leu	p.F138L	ENST00000374552	2/8	184	156	28	202	202	0	strelka-varscan-mutect	EDA,missense_variant,p.Phe138Leu,ENST00000374552,NM_001399.4;EDA,missense_variant,p.Phe138Leu,ENST00000374553,NM_001005609.1;EDA,missense_variant,p.Phe6Leu,ENST00000616899,;EDA,missense_variant,p.Phe138Leu,ENST00000524573,NM_001005612.2;EDA,missense_variant,p.Phe6Leu,ENST00000503592,;EDA,non_coding_transcript_exon_variant,,ENST00000502251,;EDA,non_coding_transcript_exon_variant,,ENST00000533317,;EDA,non_coding_transcript_exon_variant,,ENST00000374548,;	G	ENST00000374552	Transcript	missense_variant	656/5278	414/1176	138/391	F/L	ttC/ttG		1		1	EDA	HGNC	HGNC:3157	protein_coding	YES	CCDS14394.1	ENSP00000363680	Q92838		UPI0000052244	NM_001399.4	tolerated_low_confidence(0.11)		2/8																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	30	69957044	69957044	C	G	1	0	0	0	0	1	0	0	0	4731	912	32	4		4	EDA	23	69957044	Missense_Mutation	SNP	C	C3L-02219_TP	19868290	69957044	86083851	97	9083											
TCEAL3	0	.	GRCh38	chrX	103609640	103609640	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggaggtaggggccagagGggcttacacgatatcccata	10	7	16	8	1	0	1	0	0	0	1	1	3	1	2	2	7	1	2	2	7	4	4	rs75427253		C3L-02219_TP	C3L-02219_NB	G	G																c.576G>A	p.=	p.R192R	ENST00000372628	3/3	68	63	5	108	107	1	varscan-mutect	TCEAL3,synonymous_variant,p.=,ENST00000372628,;TCEAL3,synonymous_variant,p.=,ENST00000243286,NM_001006933.1;TCEAL3,synonymous_variant,p.=,ENST00000372627,NM_032926.2;TCEAL3,intron_variant,,ENST00000477014,;	A	ENST00000372628	Transcript	synonymous_variant	934/1221	576/603	192/200	R	agG/agA	rs75427253	1		1	TCEAL3	HGNC	HGNC:28247	protein_coding	YES	CCDS14511.1	ENSP00000361711	Q969E4		UPI0000071CE7				3/3		hmmpanther:PTHR14754,hmmpanther:PTHR14754:SF17,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs75427253	.												A	2	1	30	103609640	103609640	G	A	1	0	0	0	0	0	0	0	1	16079	1223	43	3		3	TCEAL3	23	103609640	Silent	SNP	G	C3L-02219_TP	33652596	103609640	52431255	98	9084											
H6PD	0	.	GRCh38	chr1	9264557	9264557	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaacagcagcttcgacctGgtgctgctgggcatgggtgc	6	8	15	12	1	0	0	0	0	0	0	1	1	0	0	2	3	6	5	2	3	1	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.2097G>T	p.=	p.L699L	ENST00000602477	5/5	111	101	10	167	167	0	strelka-varscan-mutect	H6PD,synonymous_variant,p.=,ENST00000377403,NM_004285.3;H6PD,synonymous_variant,p.=,ENST00000602477,NM_001282587.1;H6PD,upstream_gene_variant,,ENST00000495451,;	T	ENST00000602477	Transcript	synonymous_variant	2249/5590	2097/2409	699/802	L	ctG/ctT		1		1	H6PD	HGNC	HGNC:4795	protein_coding	YES	CCDS72697.1	ENSP00000473348		R4GMU1	UPI0000D61E40	NM_001282587.1			5/5		Gene3D:3.40.50.1360,Pfam_domain:PF01182,TIGRFAM_domain:TIGR01198,Superfamily_domains:SSF100950																	LOW	1	SNV	1			1										PASS		rs1255181873	.												T	2	4	31	9264557	9264557	G	T	1	0	0	0	0	0	0	0	1	6818	1335	47	2		2	H6PD	1	9264557	Silent	SNP	G	C3L-02345_TP		9264557	239691865	1	9085											
UBE4B	0	.	GRCh38	chr1	10179493	10179493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaccgctccatcatcctgCggcacctgctcaactccccc	6	8	7	20	2	2	0	2	0	0	0	5	1	5	1	6	2	3	3	6	2	1	0	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.3778C>T	p.Arg1260Trp	p.R1260W	ENST00000343090	27/28	198	162	36	283	283	0	strelka-varscan-mutect	UBE4B,missense_variant,p.Arg1260Trp,ENST00000343090,NM_001105562.2;UBE4B,missense_variant,p.Arg1131Trp,ENST00000253251,NM_006048.4;UBE4B,non_coding_transcript_exon_variant,,ENST00000465408,;UBE4B,non_coding_transcript_exon_variant,,ENST00000487244,;	T	ENST00000343090	Transcript	missense_variant	3853/5267	3778/3909	1260/1302	R/W	Cgg/Tgg		1		1	UBE4B	HGNC	HGNC:12500	protein_coding	YES	CCDS41245.1	ENSP00000343001	O95155		UPI0000137944	NM_001105562.2	deleterious(0)		27/28		PROSITE_profiles:PS51698,hmmpanther:PTHR13931,hmmpanther:PTHR13931:SF14,Pfam_domain:PF04564,Gene3D:3.30.40.10,SMART_domains:SM00504,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	10179493	10179493	C	T	1	0	0	0	0	1	0	0	0	17407	759	27	1		1	UBE4B	1	10179493	Missense_Mutation	SNP	C	C3L-02345_TP	914936	10179493	238776929	2	9086											
C1orf167	0	.	GRCh38	chr1	11775555	11775555	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggtgcggatgaagcagctCcgggaatcagatggggcaaa	11	6	17	7	2	1	2	1	1	0	1	2	4	2	4	1	5	3	3	1	5	3	0	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.2181C>A	p.=	p.L727L	ENST00000433342	9/21	145	125	20	168	168	0	strelka-varscan-mutect	C1orf167,synonymous_variant,p.=,ENST00000433342,NM_001010881.1;C1orf167,synonymous_variant,p.=,ENST00000312793,;C1orf167,upstream_gene_variant,,ENST00000444493,;C1orf167,upstream_gene_variant,,ENST00000449278,;RP11-56N19.5,downstream_gene_variant,,ENST00000376620,;C1orf167,non_coding_transcript_exon_variant,,ENST00000484153,;	A	ENST00000433342	Transcript	synonymous_variant	2181/4545	2181/4407	727/1468	L	ctC/ctA		1		1	C1orf167	HGNC	HGNC:25262	protein_coding	YES		ENSP00000414909	Q5SNV9		UPI0000DD7886	NM_001010881.1			9/21		hmmpanther:PTHR38493,hmmpanther:PTHR38493:SF1																	LOW		SNV	5			1										PASS		.	.												A	2	1	31	11775555	11775555	C	A	1	0	0	0	0	0	0	0	1	1972	842	30	2		2	C1orf167	1	11775555	Silent	SNP	C	C3L-02345_TP	1596062	11775555	237180867	3	9087											
RAP1GAP	0	.	GRCh38	chr1	21617353	21617353	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggctgtggggttgcactCgagcttcaccttggttgtgg	3	12	17	9	2	1	0	1	0	0	0	2	1	1	0	1	5	2	5	1	5	0	4	rs771983527		C3L-02345_TP	C3L-02345_NB	C	C																c.436G>T	p.Glu146Ter	p.E146*	ENST00000495204	7/25	172	141	31	234	233	1	strelka-varscan-mutect	RAP1GAP,stop_gained,p.Glu82Ter,ENST00000290101,;RAP1GAP,stop_gained,p.Glu82Ter,ENST00000542643,NM_001145657.1;RAP1GAP,stop_gained,p.Glu82Ter,ENST00000374763,;RAP1GAP,stop_gained,p.Glu113Ter,ENST00000374761,;RAP1GAP,stop_gained,p.Glu82Ter,ENST00000374765,NM_002885.2;RAP1GAP,stop_gained,p.Glu146Ter,ENST00000495204,NM_001145658.1;RAP1GAP,stop_gained,p.Glu82Ter,ENST00000317967,;RAP1GAP,downstream_gene_variant,,ENST00000447293,;RAP1GAP,non_coding_transcript_exon_variant,,ENST00000374757,;RAP1GAP,downstream_gene_variant,,ENST00000482984,;RAP1GAP,stop_gained,p.Glu82Ter,ENST00000471600,;RAP1GAP,non_coding_transcript_exon_variant,,ENST00000611549,;	A	ENST00000495204	Transcript	stop_gained	450/2489	436/2184	146/727	E/*	Gag/Tag	rs771983527	1		-1	RAP1GAP	HGNC	HGNC:9858	protein_coding	YES	CCDS53277.1	ENSP00000434033	P47736		UPI0000EE7109	NM_001145658.1			7/25		hmmpanther:PTHR15711,Superfamily_domains:0043732																	HIGH	1	SNV	1			1										PASS		rs771983527	.												A	4	1	31	21617353	21617353	C	A	1	0	0	0	0	0	1	0	0	13196	893	31	1		1	RAP1GAP	1	21617353	Nonsense_Mutation	SNP	C	C3L-02345_TP	9841798	21617353	227339069	4	9088											
AIM1L	0	.	GRCh38	chr1	26345706	26345706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggcatccggggctctgcCctggtctctgtccggacagg	3	9	14	15	2	2	0	0	0	2	0	5	1	4	1	4	6	1	2	4	6	0	0	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.952G>T	p.Gly318Cys	p.G318C	ENST00000308182	2/20	94	78	16	132	132	0	strelka-varscan-mutect	AIM1L,missense_variant,p.Gly318Cys,ENST00000308182,NM_001039775.3;AIM1L,missense_variant,p.Gly318Cys,ENST00000475866,;AIM1L,upstream_gene_variant,,ENST00000527815,;AIM1L,intron_variant,,ENST00000374207,;	A	ENST00000308182	Transcript	missense_variant	1102/5245	952/4986	318/1661	G/C	Ggc/Tgc		1		-1	AIM1L	HGNC	HGNC:17295	protein_coding	YES		ENSP00000310435	Q8N1P7		UPI0001DD21C3	NM_001039775.3	deleterious_low_confidence(0.02)		2/20																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	31	26345706	26345706	C	A	1	0	0	0	0	1	0	0	0	508	623	22	2		2	AIM1L	1	26345706	Missense_Mutation	SNP	C	C3L-02345_TP	4728353	26345706	222610716	5	9089											
ZMYM4	0	.	GRCh38	chr1	35419598	35419598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggacaccatgttaacacGtattctcatggtgagggagg	10	10	12	9	1	1	1	1	1	1	0	2	3	1	3	2	4	1	2	2	4	2	3	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.4568G>A	p.Arg1523His	p.R1523H	ENST00000314607	30/30	321	287	34	352	352	0	strelka-varscan-mutect	ZMYM4,missense_variant,p.Arg1523His,ENST00000314607,NM_005095.2;ZMYM4,missense_variant,p.Arg1182His,ENST00000457946,;	A	ENST00000314607	Transcript	missense_variant	4648/6994	4568/4647	1523/1548	R/H	cGt/cAt		1		1	ZMYM4	HGNC	HGNC:13055	protein_coding	YES	CCDS389.1	ENSP00000322915	Q5VZL5		UPI0000203EE6	NM_005095.2	deleterious(0)		30/30		Pfam_domain:PF12012,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF10																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	31	35419598	35419598	G	A	1	0	0	0	0	1	0	0	0	18282	1145	40	1		1	ZMYM4	1	35419598	Missense_Mutation	SNP	G	C3L-02345_TP	9073892	35419598	213536824	6	9090											
COL8A2	0	.	GRCh38	chr1	36098912	36098912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctggggcctggaactccagGaggcccagactcacccttgt	7	7	12	15	0	1	1	1	0	0	1	2	3	2	3	5	5	1	0	5	5	1	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.769C>T	p.Pro257Ser	p.P257S	ENST00000397799	4/4	132	109	23	134	134	0	strelka-varscan-mutect	COL8A2,missense_variant,p.Pro257Ser,ENST00000397799,NM_005202.3;COL8A2,missense_variant,p.Pro257Ser,ENST00000303143,;COL8A2,missense_variant,p.Pro192Ser,ENST00000481785,NM_001294347.1;COL8A2,missense_variant,p.Pro257Ser,ENST00000615990,;ADPRHL2,downstream_gene_variant,,ENST00000373178,NM_017825.2;	A	ENST00000397799	Transcript	missense_variant	994/4670	769/2112	257/703	P/S	Cct/Tct		1		-1	COL8A2	HGNC	HGNC:2216	protein_coding	YES	CCDS403.1	ENSP00000380901	P25067		UPI00001B2F2D	NM_005202.3	deleterious(0.05)		4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF584																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	31	36098912	36098912	G	A	1	0	0	0	0	1	0	0	0	3495	1188	41	3		3	COL8A2	1	36098912	Missense_Mutation	SNP	G	C3L-02345_TP	679314	36098912	212857510	7	9091											
LRRC8B	0	.	GRCh38	chr1	89583852	89583852	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactgaaacagatcaaccTcaataatgaatggacagttg	18	8	7	8	0	2	3	2	2	0	1	2	4	2	4	1	1	3	1	1	1	6	2	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.1202T>A	p.Leu401His	p.L401H	ENST00000330947	5/6	133	125	8	208	208	0	varscan-mutect	LRRC8B,missense_variant,p.Leu401His,ENST00000330947,NM_001134476.1;LRRC8B,missense_variant,p.Leu401His,ENST00000439853,NM_015350.2;LRRC8B,3_prime_UTR_variant,,ENST00000358200,;LRRC8B,downstream_gene_variant,,ENST00000449440,;FLJ27354,intron_variant,,ENST00000443562,;	A	ENST00000330947	Transcript	missense_variant	1562/7593	1202/2412	401/803	L/H	cTc/cAc		1		1	LRRC8B	HGNC	HGNC:30692	protein_coding	YES	CCDS724.1	ENSP00000332674	Q6P9F7		UPI00000739FF	NM_001134476.1	deleterious(0)		5/6		hmmpanther:PTHR23155:SF465,hmmpanther:PTHR23155																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	31	89583852	89583852	T	A	1	0	0	0	0	1	0	0	0	8926	1551	54	4		4	LRRC8B	1	89583852	Missense_Mutation	SNP	T	C3L-02345_TP	53484940	89583852	159372570	8	9092											
BRDT	0	.	GRCh38	chr1	92014211	92014211	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttttctacagatggtGggtaccattgatatgaccct	8	15	9	9	0	1	3	0	2	1	1	1	3	1	3	2	2	3	2	2	2	3	6	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.2793G>T	p.=	p.V931V	ENST00000399546	19/19	159	130	29	234	233	1	strelka-varscan-mutect	BRDT,synonymous_variant,p.=,ENST00000370389,NM_001242810.2;BRDT,synonymous_variant,p.=,ENST00000362005,NM_001242805.2,NM_207189.3;BRDT,synonymous_variant,p.=,ENST00000399546,NM_001242806.2;BRDT,synonymous_variant,p.=,ENST00000394530,NM_001242808.2,NM_001242807.2;BRDT,synonymous_variant,p.=,ENST00000402388,NM_001726.4;	T	ENST00000399546	Transcript	synonymous_variant	3142/3357	2793/2856	931/951	V	gtG/gtT		1		1	BRDT	HGNC	HGNC:1105	protein_coding	YES	CCDS72820.1	ENSP00000387822	Q58F21		UPI000292A27D	NM_001242806.2			19/19		Pfam_domain:PF17105																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	31	92014211	92014211	G	T	1	0	0	0	0	0	0	0	1	1678	1362	47	2		2	BRDT	1	92014211	Silent	SNP	G	C3L-02345_TP	2430359	92014211	156942211	9	9093											
COL11A1	0	.	GRCh38	chr1	102995989	102995989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaacaatttaacgttacCtttactccccgggggcccgg	10	10	9	12	3	0	1	0	1	0	0	1	1	1	1	4	3	4	1	4	3	6	5			C3L-02345_TP	C3L-02345_NB	C	C																c.2295G>T	p.Lys765Asn	p.K765N	ENST00000370096	27/67	262	234	28	322	322	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Lys777Asn,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Lys765Asn,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Lys726Asn,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Lys649Asn,ENST00000512756,NM_080630.3;COL11A1,missense_variant,p.Lys538Asn,ENST00000635193,;	A	ENST00000370096	Transcript	missense_variant,splice_region_variant	2608/7286	2295/5421	765/1806	K/N	aaG/aaT	COSM4930870,COSM4930871,COSM674598,COSM674599	1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0)		27/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												A	3	1	31	102995989	102995989	C	A	1	0	0	0	0	1	0	0	0	3455	695	24	2		2	COL11A1	1	102995989	Missense_Mutation	SNP	C	C3L-02345_TP	10981778	102995989	145960433	10	9094											
VAV3	0	.	GRCh38	chr1	107772843	107772843	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttccacaagggtttcActacaacaaaggatatcata	15	11	5	10	0	4	0	3	0	1	0	5	1	5	1	1	2	2	1	1	2	6	5	rs769973929		C3L-02345_TP	C3L-02345_NB	A	A																c.447T>G	p.Asp149Glu	p.D149E	ENST00000370056	5/27	119	105	14	142	142	0	strelka-varscan-mutect	VAV3,missense_variant,p.Asp149Glu,ENST00000370056,NM_006113.4;VAV3,missense_variant,p.Asp149Glu,ENST00000527011,;VAV3,missense_variant,p.Asp144Glu,ENST00000490388,;VAV3,splice_region_variant,,ENST00000343258,;VAV3,splice_region_variant,,ENST00000469325,;VAV3,splice_region_variant,,ENST00000530671,;VAV3,splice_region_variant,,ENST00000524574,;	C	ENST00000370056	Transcript	missense_variant,splice_region_variant	722/4990	447/2544	149/847	D/E	gaT/gaG	rs769973929	1		-1	VAV3	HGNC	HGNC:12659	protein_coding	YES	CCDS785.1	ENSP00000359073	Q9UKW4		UPI0000138212	NM_006113.4	deleterious(0.03)		5/27		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF97,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		rs769973929	.												C	3	2	31	107772843	107772843	A	C	1	0	0	0	0	1	0	0	0	17678	173	6	5		5	VAV3	1	107772843	Missense_Mutation	SNP	A	C3L-02345_TP	4776854	107772843	141183579	11	9095											
KCND3	0	.	GRCh38	chr1	111982290	111982290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgttgtcgtccatgagcCgctcggcgttctccctcttg	3	13	11	14	5	2	1	0	1	2	0	7	1	3	1	3	1	1	3	3	1	0	3	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.437G>A	p.Arg146Gln	p.R146Q	ENST00000315987	2/8	272	237	35	288	288	0	strelka-varscan-mutect	KCND3,missense_variant,p.Arg146Gln,ENST00000369697,;KCND3,missense_variant,p.Arg146Gln,ENST00000315987,NM_004980.4;KCND3,missense_variant,p.Arg146Gln,ENST00000302127,NM_172198.2;	T	ENST00000315987	Transcript	missense_variant	917/2716	437/1968	146/655	R/Q	cGg/cAg		1		-1	KCND3	HGNC	HGNC:6239	protein_coding	YES	CCDS843.1	ENSP00000319591	Q9UK17		UPI000003050A	NM_004980.4	deleterious(0.03)		2/8		Gene3D:3.30.710.10,Coiled-coils_(Ncoils):Coil,Prints_domain:PR01497,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF149																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	111982290	111982290	C	T	1	0	0	0	0	1	0	0	0	7936	652	23	1		1	KCND3	1	111982290	Missense_Mutation	SNP	C	C3L-02345_TP	4209447	111982290	136974132	12	9096											
BOLA1	0	.	GRCh38	chr1	149900203	149900203	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggccctgagccccgaggtGctagagcttcgcaacgagag	9	5	15	12	3	0	3	0	1	0	2	1	6	0	3	3	2	4	3	3	2	2	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.144G>T	p.=	p.V48V	ENST00000369153	3/3	162	128	34	142	142	0	strelka-varscan-mutect	BOLA1,synonymous_variant,p.=,ENST00000369153,;BOLA1,synonymous_variant,p.=,ENST00000369152,NM_016074.3;BOLA1,synonymous_variant,p.=,ENST00000369150,;SV2A,downstream_gene_variant,,ENST00000369146,NM_014849.4;BOLA1,non_coding_transcript_exon_variant,,ENST00000476344,;	T	ENST00000369153	Transcript	synonymous_variant	808/1096	144/414	48/137	V	gtG/gtT		1		1	BOLA1	HGNC	HGNC:24263	protein_coding	YES	CCDS939.1	ENSP00000358149	Q9Y3E2		UPI000013A5F7				3/3		hmmpanther:PTHR12735:SF20,hmmpanther:PTHR12735,Gene3D:1ny8A00,Pfam_domain:PF01722,Superfamily_domains:SSF82657																	LOW		SNV	3			1										PASS		.	.												T	2	4	31	149900203	149900203	G	T	1	0	0	0	0	0	0	0	1	1642	1306	46	2		2	BOLA1	1	149900203	Silent	SNP	G	C3L-02345_TP	37917913	149900203	99056219	13	9097											
ANP32E	0	.	GRCh38	chr1	150231781	150231781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaaatgccaacttacttttCgaagtttatttaagctggga	12	15	8	6	1	0	0	0	0	0	0	1	2	0	1	1	1	4	3	1	1	7	8	rs782603651		C3L-02345_TP	C3L-02345_NB	C	C																c.200G>A	p.Arg67Gln	p.R67Q	ENST00000583931	2/7	114	108	6	122	122	0	strelka-varscan-mutect	ANP32E,missense_variant,p.Arg67Gln,ENST00000583931,NM_001280559.1,NM_030920.4;ANP32E,missense_variant,p.Arg19Gln,ENST00000616917,NM_001136479.2;ANP32E,missense_variant,p.Arg67Gln,ENST00000436748,NM_001136478.3;ANP32E,missense_variant,p.Arg67Gln,ENST00000369114,;ANP32E,missense_variant,p.Arg67Gln,ENST00000533654,NM_001280560.1;ANP32E,intron_variant,,ENST00000629042,;ANP32E,intron_variant,,ENST00000369115,;ANP32E,intron_variant,,ENST00000532744,;ANP32E,intron_variant,,ENST00000534220,;	T	ENST00000583931	Transcript	missense_variant	570/3451	200/807	67/268	R/Q	cGa/cAa	rs782603651,COSM895468	1		-1	ANP32E	HGNC	HGNC:16673	protein_coding	YES	CCDS946.1	ENSP00000463154	Q9BTT0		UPI0000071679	NM_001280559.1,NM_030920.4	tolerated(0.09)		2/7		PROSITE_profiles:PS51450,hmmpanther:PTHR11375:SF5,hmmpanther:PTHR11375,Gene3D:3.80.10.10,Pfam_domain:PF14580,Superfamily_domains:SSF52058											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs782603651	.												T	3	4	31	150231781	150231781	C	T	1	0	0	0	0	1	0	0	0	816	898	31	1		1	ANP32E	1	150231781	Missense_Mutation	SNP	C	C3L-02345_TP	331578	150231781	98724641	14	9098											
VHLL	0	.	GRCh38	chr1	156298999	156298999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacacaggcagcacgattCgtgggctgtgattgcagatg	9	8	14	10	2	0	2	0	1	0	1	1	3	0	2	1	2	2	4	1	2	0	2	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.191G>T	p.Arg64Leu	p.R64L	ENST00000339922	1/1	333	226	107	284	284	0	strelka-varscan-mutect	VHLL,missense_variant,p.Arg64Leu,ENST00000339922,NM_001004319.2;GLMP,upstream_gene_variant,,ENST00000614643,NM_001256609.1;GLMP,upstream_gene_variant,,ENST00000362007,NM_144580.2,NM_001256604.1;GLMP,upstream_gene_variant,,ENST00000612353,NM_001256608.1;GLMP,upstream_gene_variant,,ENST00000622703,NM_001256605.1;GLMP,upstream_gene_variant,,ENST00000481050,;GLMP,upstream_gene_variant,,ENST00000472870,;GLMP,upstream_gene_variant,,ENST00000497955,;GLMP,upstream_gene_variant,,ENST00000484214,;GLMP,upstream_gene_variant,,ENST00000479084,;GLMP,upstream_gene_variant,,ENST00000368264,;GLMP,upstream_gene_variant,,ENST00000476177,;	A	ENST00000339922	Transcript	missense_variant	301/676	191/420	64/139	R/L	cGa/cTa		1		-1	VHLL	HGNC	HGNC:30666	protein_coding	YES		ENSP00000464258	Q6RSH7		UPI0000253B18	NM_001004319.2	deleterious(0.01)		1/1		Superfamily_domains:0040561,Gene3D:1lm8V02,PD035809,Pfam_domain:PF01847,hmmpanther:PTHR15160,hmmpanther:PTHR15160:SF5																	MODERATE		SNV				1										PASS		rs1052325769	.												A	3	1	31	156298999	156298999	C	A	1	0	0	0	0	1	0	0	0	17709	884	31	1		1	VHLL	1	156298999	Missense_Mutation	SNP	C	C3L-02345_TP	6067218	156298999	92657423	15	9099											
LRRC71	0	.	GRCh38	chr1	156929406	156929406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaaaacccctaagggcctgGgcaagaaaaaggagaaatca	18	4	11	8	0	1	3	1	1	0	2	1	4	1	3	3	3	1	1	3	3	7	1	rs746690317		C3L-02345_TP	C3L-02345_NB	G	G																c.1123G>T	p.Gly375Cys	p.G375C	ENST00000337428	10/15	219	118	101	206	204	2	strelka-varscan-mutect	LRRC71,missense_variant,p.Gly375Cys,ENST00000337428,NM_144702.2;LRRC71,non_coding_transcript_exon_variant,,ENST00000490146,;LRRC71,intron_variant,,ENST00000476550,;LRRC71,upstream_gene_variant,,ENST00000472465,;	T	ENST00000337428	Transcript	missense_variant	1277/1959	1123/1680	375/559	G/C	Ggc/Tgc	rs746690317	1		1	LRRC71	HGNC	HGNC:26556	protein_coding	YES	CCDS44249.1	ENSP00000336661	Q8N4P6		UPI00000719B9	NM_144702.2	deleterious(0.02)		10/15		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs746690317	.												T	3	4	31	156929406	156929406	G	T	1	0	0	0	0	1	0	0	0	8918	1232	43	2		2	LRRC71	1	156929406	Missense_Mutation	SNP	G	C3L-02345_TP	630407	156929406	92027016	16	9100											
TEX35	0	.	GRCh38	chr1	178520863	178520863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatccccttcatcactgtGggacctgctgcgtaagtgaa	8	11	11	11	1	2	1	2	1	0	0	3	3	3	3	3	2	2	2	3	2	2	2	rs778823356		C3L-02345_TP	C3L-02345_NB	G	G																c.532G>T	p.Gly178Trp	p.G178W	ENST00000319416	7/9	342	291	51	344	344	0	strelka-varscan-mutect	TEX35,missense_variant,p.Gly178Trp,ENST00000367641,;TEX35,missense_variant,p.Gly178Trp,ENST00000319416,NM_032126.4;TEX35,missense_variant,p.Gly178Trp,ENST00000367643,NM_001170723.1;TEX35,missense_variant,p.Gly186Trp,ENST00000367639,NM_001170722.1,NM_001170724.1;TEX35,missense_variant,p.Trp12Leu,ENST00000442872,;TEX35,3_prime_UTR_variant,,ENST00000367642,;TEX35,3_prime_UTR_variant,,ENST00000419909,;	T	ENST00000319416	Transcript	missense_variant	644/1023	532/702	178/233	G/W	Ggg/Tgg	rs778823356	1		1	TEX35	HGNC	HGNC:25366	protein_coding	YES	CCDS1323.1	ENSP00000323795	Q5T0J7		UPI00001405CF	NM_032126.4	deleterious_low_confidence(0.02)		7/9		Pfam_domain:PF15079,hmmpanther:PTHR36860																	MODERATE	1	SNV	1			1										PASS		rs778823356	.												T	3	4	31	178520863	178520863	G	T	1	0	0	0	0	1	0	0	0	16211	1348	47	2		2	TEX35	1	178520863	Missense_Mutation	SNP	G	C3L-02345_TP	21591457	178520863	70435559	17	9101											
LHX4	0	.	GRCh38	chr1	180248402	180248402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgccagatgcagctggCggacaggtgcttctccaggg	8	7	15	11	1	1	2	0	0	1	2	2	3	1	3	2	4	4	3	2	4	0	1	rs752455651		C3L-02345_TP	C3L-02345_NB	C	C																c.194C>T	p.Ala65Val	p.A65V	ENST00000263726	2/6	323	295	28	336	336	0	strelka-varscan-mutect	LHX4,missense_variant,p.Ala65Val,ENST00000263726,NM_033343.3;LHX4,synonymous_variant,p.=,ENST00000561113,;LHX4,non_coding_transcript_exon_variant,,ENST00000558139,;	T	ENST00000263726	Transcript	missense_variant	438/5820	194/1173	65/390	A/V	gCg/gTg	rs752455651,COSM3849336	1		1	LHX4	HGNC	HGNC:21734	protein_coding	YES	CCDS1338.1	ENSP00000263726	Q969G2	A0A0S2Z5S4	UPI000007340D	NM_033343.3	deleterious(0.04)		2/6		PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF116,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs752455651	.												T	3	4	31	180248402	180248402	C	T	1	0	0	0	0	1	0	0	0	8682	768	27	1		1	LHX4	1	180248402	Missense_Mutation	SNP	C	C3L-02345_TP	1727539	180248402	68708020	18	9102											
KIF21B	0	.	GRCh38	chr1	200984940	200984940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcggggccgagtgggagggGatgatgggggtgtgaatccc	6	7	22	6	2	0	2	0	2	0	0	1	5	1	4	2	7	1	0	2	7	1	0	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.3722C>A	p.Ser1241Tyr	p.S1241Y	ENST00000422435	27/35	139	105	34	109	109	0	strelka-varscan-mutect	KIF21B,missense_variant,p.Ser1241Tyr,ENST00000332129,NM_017596.3;KIF21B,missense_variant,p.Ser1241Tyr,ENST00000422435,NM_001252100.1;KIF21B,missense_variant,p.Ser1241Tyr,ENST00000461742,NM_001252102.1;KIF21B,missense_variant,p.Ser1241Tyr,ENST00000360529,NM_001252103.1;	T	ENST00000422435	Transcript	missense_variant	4039/5519	3722/4914	1241/1637	S/Y	tCc/tAc		1		-1	KIF21B	HGNC	HGNC:29442	protein_coding	YES	CCDS58056.1	ENSP00000411831	O75037		UPI0000153E7C	NM_001252100.1	deleterious(0)		27/35		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	200984940	200984940	G	T	1	0	0	0	0	1	0	0	0	8154	1174	41	2		2	KIF21B	1	200984940	Missense_Mutation	SNP	G	C3L-02345_TP	20736538	200984940	47971482	19	9103											
CR2	0	.	GRCh38	chr1	207466626	207466626	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaggtacagttgttcaggTaccttccgcctcattggaga	10	12	10	9	1	2	1	2	0	0	1	3	2	3	1	3	3	2	4	3	3	3	7	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.159T>C	p.=	p.G53G	ENST00000367057	2/20	447	422	25	418	418	0	strelka-varscan-mutect	CR2,synonymous_variant,p.=,ENST00000367057,NM_001006658.2;CR2,synonymous_variant,p.=,ENST00000367058,NM_001877.4;CR2,synonymous_variant,p.=,ENST00000367059,;CR2,non_coding_transcript_exon_variant,,ENST00000479186,;CR2,upstream_gene_variant,,ENST00000485707,;CR2,upstream_gene_variant,,ENST00000475194,;	C	ENST00000367057	Transcript	synonymous_variant	348/4240	159/3279	53/1092	G	ggT/ggC		1		1	CR2	HGNC	HGNC:2336	protein_coding	YES	CCDS31007.1	ENSP00000356024	P20023		UPI0000366600	NM_001006658.2			2/20		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF391,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	31	207466626	207466626	T	C	1	0	0	0	0	0	0	0	1	3640	1625	57	5		5	CR2	1	207466626	Silent	SNP	T	C3L-02345_TP	6481686	207466626	41489796	20	9104											
KCNH1	0	.	GRCh38	chr1	211107337	211107337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcattgctgtacacaataggCcagtccactatctgagcatt	11	12	7	11	0	2	1	1	1	1	0	3	1	3	1	2	1	3	3	2	1	4	5	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.120G>T	p.Trp40Cys	p.W40C	ENST00000271751	2/11	197	176	21	212	212	0	strelka-varscan-mutect	KCNH1,missense_variant,p.Trp40Cys,ENST00000271751,NM_172362.2;KCNH1,missense_variant,p.Trp40Cys,ENST00000367007,NM_002238.3;	A	ENST00000271751	Transcript	missense_variant	148/7964	120/2970	40/989	W/C	tgG/tgT		1		-1	KCNH1	HGNC	HGNC:6250	protein_coding	YES	CCDS1496.1	ENSP00000271751	O95259		UPI000003230D	NM_172362.2	tolerated(0.32)		2/11		PROSITE_profiles:PS50112,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF533,Gene3D:3.30.450.20,TIGRFAM_domain:TIGR00229,Superfamily_domains:SSF55785																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	31	211107337	211107337	C	A	1	0	0	0	0	1	0	0	0	7947	740	26	2		2	KCNH1	1	211107337	Missense_Mutation	SNP	C	C3L-02345_TP	3640711	211107337	37849085	21	9105											
ACTN2	0	.	GRCh38	chr1	236739505	236739505	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcaaccgtcctgccttCatgccctccgagggcaagat	9	8	9	15	2	2	1	2	0	0	1	4	2	4	1	5	1	4	2	5	1	2	1			C3L-02345_TP	C3L-02345_NB	C	C																c.1080C>A	p.Phe360Leu	p.F360L	ENST00000542672	10/21	460	414	46	476	476	0	strelka-varscan-mutect	ACTN2,missense_variant,p.Phe152Leu,ENST00000546208,NM_001278344.1;ACTN2,missense_variant,p.Phe360Leu,ENST00000542672,NM_001278343.1;ACTN2,missense_variant,p.Phe360Leu,ENST00000366578,NM_001103.3;ACTN2,non_coding_transcript_exon_variant,,ENST00000492634,;ACTN2,non_coding_transcript_exon_variant,,ENST00000494762,;	A	ENST00000542672	Transcript	missense_variant	1300/4906	1080/2685	360/894	F/L	ttC/ttA	COSM4458297,COSM4458298	1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1	deleterious(0)		10/21		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,Superfamily_domains:SSF46966											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	31	236739505	236739505	C	A	1	0	0	0	0	1	0	0	0	249	825	29	2		2	ACTN2	1	236739505	Missense_Mutation	SNP	C	C3L-02345_TP	25632168	236739505	12216917	22	9106											
RYR2	0	.	GRCh38	chr1	237788030	237788030	+	Frame_Shift_Del	DEL	G	G	-																															gagaaagccaaggaagacaaGggcaaacaaaagttgaggca																								rs769311004		C3L-02345_TP	C3L-02345_NB	G	G																c.13373delG	p.Gly4458AlafsTer5	p.G4458Afs*5	ENST00000366574	92/105	230	212	18	236	236	0	varindel-pindel	RYR2,frameshift_variant,p.Gly4458AlafsTer5,ENST00000366574,NM_001035.2;RYR2,frameshift_variant,p.Gly4441AlafsTer5,ENST00000360064,;RYR2,downstream_gene_variant,,ENST00000609119,;RYR2,upstream_gene_variant,,ENST00000608590,;	-	ENST00000366574	Transcript	frameshift_variant	13688/16562	13371/14904	4457/4967	K/X	aaG/aa	rs769311004	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			92/105		Pfam_domain:PF06459,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Low_complexity_(Seg):seg																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	31	237788030	237788030	G	-	1	0	1	0	1	0	0	0	0	14029	991	35	0		0	RYR2	1	237788030	Frame_Shift_Del	DEL	G	C3L-02345_TP	1048525	237788030	11168392	23	9107											
CEP170	0	.	GRCh38	chr1	243164961	243164961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacgaccatctgctcttgaaCccacatctgtggaacgactt	10	11	7	13	2	3	1	0	1	3	0	3	4	3	2	2	1	4	1	2	1	3	3			C3L-02345_TP	C3L-02345_NB	C	C																c.2999G>T	p.Gly1000Val	p.G1000V	ENST00000366542	13/20	368	346	22	416	416	0	varscan-mutect	CEP170,missense_variant,p.Gly1000Val,ENST00000366542,NM_014812.2;CEP170,missense_variant,p.Gly902Val,ENST00000366544,NM_001042404.1;CEP170,missense_variant,p.Gly902Val,ENST00000366543,NM_001042405.1;CEP170,missense_variant,p.Gly964Val,ENST00000336415,;CEP170,upstream_gene_variant,,ENST00000490813,;CEP170,upstream_gene_variant,,ENST00000413359,;CEP170,upstream_gene_variant,,ENST00000464936,;CEP170,downstream_gene_variant,,ENST00000522895,;CEP170,upstream_gene_variant,,ENST00000492145,;RP11-261C10.4,intron_variant,,ENST00000437499,;RP11-261C10.4,intron_variant,,ENST00000422938,;CEP170,non_coding_transcript_exon_variant,,ENST00000451408,;CEP170,downstream_gene_variant,,ENST00000518289,;CEP170,downstream_gene_variant,,ENST00000461671,;	A	ENST00000366542	Transcript	missense_variant	3051/6828	2999/4755	1000/1584	G/V	gGt/gTt	COSM4577085,COSM4577086	1		-1	CEP170	HGNC	HGNC:28920	protein_coding	YES	CCDS44339.1	ENSP00000355500	Q5SW79		UPI0000470238	NM_014812.2	deleterious(0.02)		13/20		hmmpanther:PTHR15715:SF17,hmmpanther:PTHR15715,Pfam_domain:PF15308											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	31	243164961	243164961	C	A	1	0	0	0	0	1	0	0	0	2964	507	18	2		2	CEP170	1	243164961	Missense_Mutation	SNP	C	C3L-02345_TP	5376931	243164961	5791461	24	9108											
ZNF669	0	.	GRCh38	chr1	247100540	247100540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttttctccagtatgaattCtttcgtggaggtgaagggaa	9	15	12	5	1	2	2	0	2	2	0	4	4	2	4	1	3	0	2	1	3	4	5	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1229G>C	p.Arg410Thr	p.R410T	ENST00000343381	4/4	195	165	30	212	212	0	strelka-varscan-mutect	ZNF669,missense_variant,p.Arg410Thr,ENST00000343381,NM_024804.2;ZNF669,missense_variant,p.Arg324Thr,ENST00000448299,NM_001142572.1;ZNF669,downstream_gene_variant,,ENST00000366501,;ZNF669,downstream_gene_variant,,ENST00000476158,;ZNF669,downstream_gene_variant,,ENST00000366500,;	G	ENST00000343381	Transcript	missense_variant	1402/1951	1229/1395	410/464	R/T	aGa/aCa		1		-1	ZNF669	HGNC	HGNC:25736	protein_coding	YES	CCDS31088.1	ENSP00000342818	Q96BR6	A0A024R5S3	UPI000013E1E0	NM_024804.2	deleterious(0.01)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF127,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	31	247100540	247100540	C	G	1	0	0	0	0	1	0	0	0	18650	913	32	4		4	ZNF669	1	247100540	Missense_Mutation	SNP	C	C3L-02345_TP	3935579	247100540	1855882	25	9109											
OR2B11	0	.	GRCh38	chr1	247451215	247451215	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacatgtaaatcgcaggtagGtagaagagggagacgatcat	15	8	13	5	2	1	3	1	0	0	3	2	5	1	3	0	3	1	4	0	3	6	4	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.768C>G	p.Tyr256Ter	p.Y256*	ENST00000318749	1/1	55	42	13	68	68	0	strelka-varscan-mutect	OR2B11,stop_gained,p.Tyr256Ter,ENST00000318749,NM_001004492.1;NLRP3,downstream_gene_variant,,ENST00000366497,NM_001127461.2;NLRP3,downstream_gene_variant,,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000391828,NM_001079821.2;NLRP3,downstream_gene_variant,,ENST00000348069,NM_183395.2;NLRP3,downstream_gene_variant,,ENST00000391827,NM_001127462.2;NLRP3,downstream_gene_variant,,ENST00000532083,;	C	ENST00000318749	Transcript	stop_gained	768/954	768/954	256/317	Y/*	taC/taG		1		-1	OR2B11	HGNC	HGNC:31249	protein_coding	YES	CCDS31090.1	ENSP00000325682	Q5JQS5	A0A126GVY5	UPI0000418F50	NM_001004492.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF112,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	HIGH		SNV				1										PASS		.	.												C	4	2	31	247451215	247451215	G	C	1	0	0	0	0	0	1	0	0	11067	1256	44	4		4	OR2B11	1	247451215	Nonsense_Mutation	SNP	G	C3L-02345_TP	350675	247451215	1505207	26	9110											
OR2M5	0	.	GRCh38	chr1	248145168	248145168	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcatgggagaatcagacCttcaactctgacttcatcct	11	11	8	11	0	4	3	3	1	1	2	5	4	5	3	2	2	1	1	2	2	2	2	rs751103552		C3L-02345_TP	C3L-02345_NB	C	C																c.21C>A	p.=	p.T7T	ENST00000366476	1/1	85	74	11	102	102	0	strelka-varscan-mutect	OR2M5,synonymous_variant,p.=,ENST00000366476,NM_001004690.1;	A	ENST00000366476	Transcript	synonymous_variant	21/939	21/939	7/312	T	acC/acA	rs751103552,COSM3785228	1		1	OR2M5	HGNC	HGNC:19576	protein_coding	YES	CCDS31105.1	ENSP00000355432	A3KFT3		UPI00001612E2	NM_001004690.1			1/1		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF28,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											0,1						LOW	1	SNV			0,1	1										PASS		rs751103552	.												A	2	1	31	248145168	248145168	C	A	1	0	0	0	0	0	0	0	1	11091	668	24	2		2	OR2M5	1	248145168	Silent	SNP	C	C3L-02345_TP	693953	248145168	811254	27	9111											
OR2G6	0	.	GRCh38	chr1	248521787	248521787	+	Frame_Shift_Del	DEL	A	A	-																															gggaacactgccctcatactAgtatgttgtctggactccag																								rs148863520		C3L-02345_TP	C3L-02345_NB	A	A																c.141delA	p.Val48TyrfsTer38	p.V48Yfs*38	ENST00000343414	1/1	316	288	28	350	350	0	varindel-pindel	OR2G6,frameshift_variant,p.Val48TyrfsTer38,ENST00000343414,NM_001013355.1;	-	ENST00000343414	Transcript	frameshift_variant	141/951	141/951	47/316	L/X	ctA/ct	rs148863520	1		1	OR2G6	HGNC	HGNC:27019	protein_coding	YES	CCDS31119.1	ENSP00000341291	Q5TZ20	A0A126GW53	UPI0000237253	NM_001013355.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF110,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	HIGH	1	deletion				1										PASS		.	.												-	7	5	31	248521787	248521787	A	-	1	0	1	0	1	0	0	0	0	11078	407	15	0		0	OR2G6	1	248521787	Frame_Shift_Del	DEL	A	C3L-02345_TP	376619	248521787	434635	28	9112											
MYT1L	0	.	GRCh38	chr2	1922842	1922842	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccatcttttccatgagTccgttgttcatgggcttccc	5	15	7	14	1	2	1	1	1	1	0	6	1	6	1	5	1	0	3	5	1	0	5	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.927A>T	p.=	p.G309G	ENST00000399161	10/25	240	207	33	284	284	0	strelka-varscan-mutect	MYT1L,synonymous_variant,p.=,ENST00000399161,NM_001303052.1;MYT1L,synonymous_variant,p.=,ENST00000428368,NM_015025.3;MYT1L,upstream_gene_variant,,ENST00000602387,;	A	ENST00000399161	Transcript	synonymous_variant	1675/7063	927/3561	309/1186	G	ggA/ggT		1		-1	MYT1L	HGNC	HGNC:7623	protein_coding	YES	CCDS77378.1	ENSP00000382114	Q9UL68		UPI0000140B19	NM_001303052.1			10/25																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	31	1922842	1922842	T	A	1	0	0	0	0	0	0	0	1	10106	1654	58	4		4	MYT1L	2	1922842	Silent	SNP	T	C3L-02345_TP		1922842	240270687	29	9113											
APOB	0	.	GRCh38	chr2	21004332	21004332	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatccatatccatgcccacGgtgcctacggctggggaggc	7	8	12	14	2	1	0	1	0	0	0	3	1	3	1	4	5	3	1	4	5	2	2	rs145269223		C3L-02345_TP	C3L-02345_NB	G	G																c.12024C>G	p.=	p.T4008T	ENST00000233242	28/29	280	213	67	359	359	0	strelka-varscan-mutect	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	C	ENST00000233242	Transcript	synonymous_variant	12152/14121	12024/13692	4008/4563	T	acC/acG	rs145269223	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			28/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	LOW	1	SNV	1			1										PASS		rs145269223	.												C	2	2	31	21004332	21004332	G	C	1	0	0	0	0	0	0	0	1	907	1103	39	4		4	APOB	2	21004332	Silent	SNP	G	C3L-02345_TP	19081490	21004332	221189197	30	9114											
C2orf16	0	.	GRCh38	chr2	27578156	27578156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaattgtaaagtctgtgacGataccaaggccaacccctca	14	8	7	12	1	2	1	1	1	1	0	2	2	2	1	4	1	2	1	4	1	6	3			C3L-02345_TP	C3L-02345_NB	G	G																c.1584G>A	p.=	p.T528T	ENST00000408964	1/1	302	271	31	316	315	1	strelka-varscan	C2orf16,synonymous_variant,p.=,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271289.1,NM_001271318.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271287.1,NM_001271288.1;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000379717,;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;	A	ENST00000408964	Transcript	synonymous_variant	1635/6199	1584/5955	528/1984	T	acG/acA	COSM3580690,COSM3580691	1		1	C2orf16	HGNC	HGNC:25275	protein_coding	YES	CCDS42666.1	ENSP00000386190	Q68DN1		UPI0000D61179	NM_032266.3			1/1		hmmpanther:PTHR33888											1,1						LOW		SNV			1,1	1										PASS		.	.												A	2	1	31	27578156	27578156	G	A	1	0	0	0	0	0	0	0	1	2032	1045	37	1		1	C2orf16	2	27578156	Silent	SNP	G	C3L-02345_TP	6573824	27578156	214615373	31	9115											
USP34	0	.	GRCh38	chr2	61301374	61301374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatatccttaaaaccaaGctcatgaagtgctttttcat	12	14	5	10	0	2	1	2	1	0	0	3	1	3	1	2	0	4	3	2	0	5	4	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.3898C>T	p.Leu1300Phe	p.L1300F	ENST00000398571	28/80	161	121	40	168	167	1	strelka-varscan	USP34,missense_variant,p.Leu1300Phe,ENST00000398571,NM_014709.3;USP34,upstream_gene_variant,,ENST00000472706,;	A	ENST00000398571	Transcript	missense_variant	3975/11357	3898/10641	1300/3546	L/F	Ctt/Ttt		1		-1	USP34	HGNC	HGNC:20066	protein_coding	YES	CCDS42686.1	ENSP00000381577	Q70CQ2		UPI0000410E09	NM_014709.3	deleterious(0.01)		28/80																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	31	61301374	61301374	G	A	1	0	0	0	0	1	0	0	0	17607	971	34	3		3	USP34	2	61301374	Missense_Mutation	SNP	G	C3L-02345_TP	33723218	61301374	180892155	32	9116											
WDR92	0	.	GRCh38	chr2	68138837	68138837	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcacaaacaacacgttCttcttgattataagcattgc	13	11	6	11	1	2	1	0	1	2	0	2	1	2	1	1	0	5	3	1	0	4	6	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.538G>T	p.Glu180Ter	p.E180*	ENST00000295121	5/8	162	116	46	180	180	0	strelka-varscan	WDR92,stop_gained,p.Glu180Ter,ENST00000295121,NM_138458.3;WDR92,stop_gained,p.Glu180Ter,ENST00000409164,NM_001256476.1;WDR92,stop_gained,p.Glu79Ter,ENST00000406245,;WDR92,upstream_gene_variant,,ENST00000457114,;WDR92,non_coding_transcript_exon_variant,,ENST00000492039,;RP11-474G23.1,3_prime_UTR_variant,,ENST00000406334,;	A	ENST00000295121	Transcript	stop_gained	655/2626	538/1074	180/357	E/*	Gaa/Taa		1		-1	WDR92	HGNC	HGNC:25176	protein_coding	YES	CCDS1884.1	ENSP00000295121	Q96MX6	A0A140VK67	UPI000006F50D	NM_138458.3			5/8		Gene3D:2.130.10.10,hmmpanther:PTHR10971,hmmpanther:PTHR10971:SF2,Superfamily_domains:SSF50978																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	31	68138837	68138837	C	A	1	0	0	0	0	0	1	0	0	17895	922	32	2		2	WDR92	2	68138837	Nonsense_Mutation	SNP	C	C3L-02345_TP	6837463	68138837	174054692	33	9117											
ZNF638	0	.	GRCh38	chr2	71393408	71393408	+	Frame_Shift_Del	DEL	C	C	-																															cctcaggccctctttggattCcagtacgatgcatcagacca																								novel		C3L-02345_TP	C3L-02345_NB	C	C																c.2494delC	p.Gln832SerfsTer12	p.Q832Sfs*12	ENST00000410075	12/13	109	93	16	156	156	0	sindel-varindel-pindel	ZNF638,frameshift_variant,p.Gln832SerfsTer12,ENST00000410075,;ZNF638,intron_variant,,ENST00000409544,NM_001252612.1;ZNF638,intron_variant,,ENST00000264447,NM_014497.4,NM_001014972.2,NM_001252613.1;ZNF638,intron_variant,,ENST00000491843,;ZNF638,upstream_gene_variant,,ENST00000487638,;	-	ENST00000410075	Transcript	frameshift_variant	2857/3518	2493/2757	831/918	F/X	ttC/tt		1		1	ZNF638	HGNC	HGNC:17894	protein_coding			ENSP00000485608		A0A096LPH6	UPI000188166D				12/13																			HIGH		deletion	1	1		1										PASS		.	.												-	7	5	31	71393408	71393408	C	-	1	0	1	0	1	0	0	0	0	18630	854	30	0		0	ZNF638	2	71393408	Frame_Shift_Del	DEL	C	C3L-02345_TP	3254571	71393408	170800121	34	9118											
DYSF	0	.	GRCh38	chr2	71517034	71517034	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagatgctctcctcggggagTtccgggtaattgcttatttt	6	15	11	9	2	1	1	0	0	1	1	4	2	2	2	2	3	2	4	2	3	2	6	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.997T>A	p.Phe333Ile	p.F333I	ENST00000410020	10/56	407	346	61	441	440	1	strelka-varscan	DYSF,missense_variant,p.Phe301Ile,ENST00000258104,NM_003494.3,NM_001130976.1;DYSF,missense_variant,p.Phe332Ile,ENST00000409582,NM_001130981.1,NM_001130977.1;DYSF,missense_variant,p.Phe332Ile,ENST00000413539,NM_001130979.1;DYSF,missense_variant,p.Phe301Ile,ENST00000429174,NM_001130978.1;DYSF,missense_variant,p.Phe332Ile,ENST00000409762,NM_001130980.1;DYSF,missense_variant,p.Phe333Ile,ENST00000410020,NM_001130987.1;DYSF,missense_variant,p.Phe333Ile,ENST00000409651,NM_001130982.1;DYSF,missense_variant,p.Phe302Ile,ENST00000409366,NM_001130983.1;DYSF,missense_variant,p.Phe333Ile,ENST00000410041,NM_001130985.1;DYSF,missense_variant,p.Phe302Ile,ENST00000409744,NM_001130984.1,NM_001130986.1;DYSF,missense_variant,p.Phe302Ile,ENST00000394120,NM_001130455.1;	A	ENST00000410020	Transcript	missense_variant	1138/6657	997/6360	333/2119	F/I	Ttc/Atc		1		1	DYSF	HGNC	HGNC:3097	protein_coding	YES	CCDS46328.1	ENSP00000386881	O75923		UPI000171F710	NM_001130987.1	deleterious(0)		10/56		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF33,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	71517034	71517034	T	A	1	0	0	0	0	1	0	0	0	4683	1739	60	4		4	DYSF	2	71517034	Missense_Mutation	SNP	T	C3L-02345_TP	123626	71517034	170676495	35	9119											
DQX1	0	.	GRCh38	chr2	74525160	74525160	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagtaacctgtcctttctGgaaccctctggccagcgcaa	10	9	8	14	1	2	0	0	0	2	0	3	1	3	1	4	2	4	2	4	2	4	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.280C>T	p.Gln94Ter	p.Q94*	ENST00000404568	3/12	82	60	22	94	94	0	strelka-varscan	DQX1,stop_gained,p.Gln94Ter,ENST00000404568,NM_133637.2;DQX1,stop_gained,p.Gln94Ter,ENST00000393951,;DQX1,5_prime_UTR_variant,,ENST00000451518,;HTRA2,upstream_gene_variant,,ENST00000258080,NM_013247.4;AUP1,downstream_gene_variant,,ENST00000377526,NM_181575.4;HTRA2,upstream_gene_variant,,ENST00000437202,;HTRA2,upstream_gene_variant,,ENST00000352222,NM_145074.2;DQX1,intron_variant,,ENST00000498552,;HTRA2,upstream_gene_variant,,ENST00000467961,;HTRA2,upstream_gene_variant,,ENST00000462909,;HTRA2,upstream_gene_variant,,ENST00000484881,;DQX1,upstream_gene_variant,,ENST00000495597,;DQX1,non_coding_transcript_exon_variant,,ENST00000473508,;DQX1,upstream_gene_variant,,ENST00000418139,;AUP1,downstream_gene_variant,,ENST00000466894,;AUP1,downstream_gene_variant,,ENST00000463900,;AUP1,downstream_gene_variant,,ENST00000425118,;AUP1,downstream_gene_variant,,ENST00000486234,;AUP1,downstream_gene_variant,,ENST00000464887,;DQX1,upstream_gene_variant,,ENST00000483555,;AUP1,downstream_gene_variant,,ENST00000472800,;AUP1,downstream_gene_variant,,ENST00000462297,;	A	ENST00000404568	Transcript	stop_gained	500/2689	280/2154	94/717	Q/*	Cag/Tag		1		-1	DQX1	HGNC	HGNC:20410	protein_coding	YES	CCDS1949.2	ENSP00000384621	Q8TE96		UPI0000208758	NM_133637.2			3/12		PROSITE_profiles:PS51192,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF108,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540																	HIGH		SNV	5			1										PASS		.	.												A	4	1	31	74525160	74525160	G	A	1	0	0	0	0	0	1	0	0	4566	1357	47	3		3	DQX1	2	74525160	Nonsense_Mutation	SNP	G	C3L-02345_TP	3008126	74525160	167668369	36	9120											
ST3GAL5	0	.	GRCh38	chr2	85846456	85846456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagcaacaaataagtcattgGaataatattcaaggtcagac	18	9	7	7	0	3	1	3	0	0	1	3	2	3	2	0	2	2	1	0	2	7	5	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.770C>T	p.Ser257Phe	p.S257F	ENST00000377332	5/7	327	247	80	306	306	0	strelka-varscan	ST3GAL5,missense_variant,p.Ser257Phe,ENST00000377332,NM_003896.3;ST3GAL5,missense_variant,p.Ser229Phe,ENST00000393805,;ST3GAL5,missense_variant,p.Ser234Phe,ENST00000393808,NM_001042437.1;ST3GAL5,downstream_gene_variant,,ENST00000455892,;ST3GAL5,downstream_gene_variant,,ENST00000487896,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000461206,;ST3GAL5,downstream_gene_variant,,ENST00000306262,;ST3GAL5,downstream_gene_variant,,ENST00000433665,;	A	ENST00000377332	Transcript	missense_variant	879/2366	770/1257	257/418	S/F	tCc/tTc		1		-1	ST3GAL5	HGNC	HGNC:10872	protein_coding	YES	CCDS1986.2	ENSP00000366549	Q9UNP4		UPI000015F319	NM_003896.3	deleterious(0)		5/7		hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF60,PIRSF_domain:PIRSF005557,Pfam_domain:PF00777																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	85846456	85846456	G	A	1	0	0	0	0	1	0	0	0	15596	1174	41	3		3	ST3GAL5	2	85846456	Missense_Mutation	SNP	G	C3L-02345_TP	11321296	85846456	156347073	37	9121											
RGPD4	0	.	GRCh38	chr2	107882730	107882730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcaagaggagtctgcagCtaacgtggaacacttgaaga	15	6	13	7	1	1	4	0	1	1	3	1	6	1	6	0	2	5	3	0	2	4	2	rs774575902		C3L-02345_TP	C3L-02345_NB	C	C																c.5123C>A	p.Ala1708Asp	p.A1708D	ENST00000408999	22/23	454	380	74	472	472	0	strelka-varscan	RGPD4,missense_variant,p.Ala1708Asp,ENST00000408999,NM_182588.2;	A	ENST00000408999	Transcript	missense_variant	5200/5464	5123/5277	1708/1758	A/D	gCt/gAt	rs774575902	1		1	RGPD4	HGNC	HGNC:32417	protein_coding	YES	CCDS46381.1	ENSP00000386810	Q7Z3J3		UPI0000418FF7	NM_182588.2	deleterious_low_confidence(0)		22/23		PROSITE_profiles:PS50913,Gene3D:1uptF00,Pfam_domain:PF01465,SMART_domains:SM00755																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	107882730	107882730	C	A	1	0	0	0	0	1	0	0	0	13460	797	28	2		2	RGPD4	2	107882730	Missense_Mutation	SNP	C	C3L-02345_TP	22036274	107882730	134310799	38	9122											
MARCO	0	.	GRCh38	chr2	118993172	118993172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcagtagtaaccgaggccGggctgaagtttactacagtg	10	8	14	9	3	0	1	0	1	0	0	0	2	0	1	2	3	3	5	2	3	5	5	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1301G>T	p.Arg434Leu	p.R434L	ENST00000327097	16/17	215	174	41	267	267	0	strelka-varscan	MARCO,missense_variant,p.Arg434Leu,ENST00000327097,NM_006770.3;MARCO,non_coding_transcript_exon_variant,,ENST00000494979,;	T	ENST00000327097	Transcript	missense_variant	1436/1838	1301/1563	434/520	R/L	cGg/cTg		1		1	MARCO	HGNC	HGNC:6895	protein_coding	YES	CCDS2124.1	ENSP00000318916	Q9UEW3	Q4ZG40	UPI0000000DF8	NM_006770.3	deleterious(0)		16/17		PROSITE_profiles:PS50287,hmmpanther:PTHR24023:SF525,hmmpanther:PTHR24023,PROSITE_patterns:PS00420,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487,Prints_domain:PR00258																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	118993172	118993172	G	T	1	0	0	0	0	1	0	0	0	9236	1116	39	1		1	MARCO	2	118993172	Missense_Mutation	SNP	G	C3L-02345_TP	11110442	118993172	123200357	39	9123											
CNTNAP5	0	.	GRCh38	chr2	124764044	124764044	+	Frame_Shift_Del	DEL	G	G	-																															cactttcctaccttccatgcGgaattcagtgccgatatttc																								rs746143355		C3L-02345_TP	C3L-02345_NB	G	G																c.2428delG	p.Glu810AsnfsTer20	p.E810Nfs*20	ENST00000431078	16/24	153	140	13	206	205	1	varindel-pindel	CNTNAP5,frameshift_variant,p.Glu810AsnfsTer20,ENST00000431078,NM_130773.3;	-	ENST00000431078	Transcript	frameshift_variant	2791/5284	2427/3921	809/1306	A/X	gcG/gc	rs746143355,COSM715967	1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3			16/24		PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF665,Gene3D:2.60.120.200,Superfamily_domains:SSF49899											0,1						HIGH	1	deletion	1	1	0,1	1										PASS		.	.												-	7	5	31	124764044	124764044	G	-	1	0	1	0	1	0	0	0	0	3432	1103	39	0		0	CNTNAP5	2	124764044	Frame_Shift_Del	DEL	G	C3L-02345_TP	5770872	124764044	117429485	40	9124											
LRP1B	0	.	GRCh38	chr2	140495642	140495642	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaggcacttgtaagtcccgTatgtattgatgcattgctgg	9	13	12	7	1	0	2	0	1	0	1	1	2	1	2	1	2	2	6	1	2	3	6	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.8957A>T	p.Tyr2986Phe	p.Y2986F	ENST00000389484	56/91	106	86	20	136	136	0	strelka-varscan	LRP1B,missense_variant,p.Tyr2986Phe,ENST00000389484,NM_018557.2;	A	ENST00000389484	Transcript	missense_variant	9929/16535	8957/13800	2986/4599	Y/F	tAc/tTc		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(0.13)		56/91		PROSITE_profiles:PS50026,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	140495642	140495642	T	A	1	0	0	0	0	1	0	0	0	8850	1638	57	4		4	LRP1B	2	140495642	Missense_Mutation	SNP	T	C3L-02345_TP	15731598	140495642	101697887	41	9125											
FSIP2	0	.	GRCh38	chr2	185805275	185805275	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattctctgataagggaattTaagaaaagtgatattaaagt	18	13	8	2	0	1	3	0	2	1	1	2	4	1	4	0	1	0	0	0	1	9	6	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.16236T>G	p.Phe5412Leu	p.F5412L	ENST00000343098	17/23	84	68	16	115	115	0	strelka-varscan-mutect	FSIP2,missense_variant,p.Phe5412Leu,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Phe5323Leu,ENST00000424728,;FSIP2,upstream_gene_variant,,ENST00000611759,;FSIP2,intron_variant,,ENST00000415915,;	G	ENST00000343098	Transcript	missense_variant	16236/21054	16236/20991	5412/6996	F/L	ttT/ttG		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	deleterious(0)		17/23		Pfam_domain:PF15783,hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	31	185805275	185805275	T	G	1	0	0	0	0	1	0	0	0	5949	1751	61	5		5	FSIP2	2	185805275	Missense_Mutation	SNP	T	C3L-02345_TP	45309633	185805275	56388254	42	9126											
COL3A1	0	.	GRCh38	chr2	189007895	189007895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctttccagggccctgctgGtcagcagggtgcaatcggca	6	10	13	12	1	2	0	1	0	1	0	4	0	3	0	2	4	3	4	2	4	1	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.3374G>T	p.Gly1125Val	p.G1125V	ENST00000304636	46/51	455	357	98	478	476	2	strelka-varscan-mutect	COL3A1,missense_variant,p.Gly1125Val,ENST00000304636,NM_000090.3;COL3A1,intron_variant,,ENST00000317840,;COL3A1,upstream_gene_variant,,ENST00000487010,;COL3A1,downstream_gene_variant,,ENST00000467886,;	T	ENST00000304636	Transcript	missense_variant	3544/5543	3374/4401	1125/1466	G/V	gGt/gTt		1		1	COL3A1	HGNC	HGNC:2201	protein_coding	YES	CCDS2297.1	ENSP00000304408	P02461		UPI0000456EBA	NM_000090.3	deleterious(0)		46/51		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	189007895	189007895	G	T	1	0	0	0	0	1	0	0	0	3477	1261	44	2		2	COL3A1	2	189007895	Missense_Mutation	SNP	G	C3L-02345_TP	3202620	189007895	53185634	43	9127											
NBEAL1	0	.	GRCh38	chr2	203135921	203135921	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttgcctcagctaatgTgtcttcggatcagtggagtt	6	16	10	9	1	4	0	2	0	2	0	5	2	4	2	1	2	2	2	1	2	1	5	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.3971T>C	p.Val1324Ala	p.V1324A	ENST00000449802	27/55	200	170	30	235	235	0	strelka-varscan-mutect	NBEAL1,missense_variant,p.Val1324Ala,ENST00000449802,NM_001114132.1;	C	ENST00000449802	Transcript	missense_variant	4304/10938	3971/8085	1324/2694	V/A	gTg/gCg		1		1	NBEAL1	HGNC	HGNC:20681	protein_coding	YES	CCDS46495.1	ENSP00000399903	Q6ZS30		UPI000194EC27	NM_001114132.1	tolerated(1)		27/55		hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	31	203135921	203135921	T	C	1	0	0	0	0	1	0	0	0	10199	1696	59	5		5	NBEAL1	2	203135921	Missense_Mutation	SNP	T	C3L-02345_TP	14128026	203135921	39057608	44	9128											
SLC4A3	0	.	GRCh38	chr2	219632346	219632346	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccgctggatcaagtttgagGaggacgtggaggaggagacg	10	6	18	7	3	1	2	1	1	0	1	1	8	1	7	1	6	0	2	1	6	1	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1126G>T	p.Glu376Ter	p.E376*	ENST00000273063	8/23	150	116	34	185	185	0	strelka-varscan-mutect	SLC4A3,stop_gained,p.Glu349Ter,ENST00000358055,NM_005070.3;SLC4A3,stop_gained,p.Glu376Ter,ENST00000273063,NM_001326559.1,NM_201574.2;SLC4A3,stop_gained,p.Glu349Ter,ENST00000373760,;SLC4A3,stop_gained,p.Glu349Ter,ENST00000317151,;SLC4A3,stop_gained,p.Glu151Ter,ENST00000413743,;SLC4A3,non_coding_transcript_exon_variant,,ENST00000497589,;SLC4A3,stop_gained,p.Glu349Ter,ENST00000425141,;SLC4A3,stop_gained,p.Glu49Ter,ENST00000416910,;SLC4A3,upstream_gene_variant,,ENST00000444906,;	T	ENST00000273063	Transcript	stop_gained	1340/4246	1126/3780	376/1259	E/*	Gag/Tag		1		1	SLC4A3	HGNC	HGNC:11029	protein_coding	YES	CCDS2446.1	ENSP00000273063	P48751		UPI000022BE50	NM_001326559.1,NM_201574.2			8/23		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF15,Gene3D:1hynR00,TIGRFAM_domain:TIGR00834,Superfamily_domains:SSF55804																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	31	219632346	219632346	G	T	1	0	0	0	0	0	1	0	0	14932	1175	41	2		2	SLC4A3	2	219632346	Nonsense_Mutation	SNP	G	C3L-02345_TP	16496425	219632346	22561183	45	9129											
GPR55	0	.	GRCh38	chr2	230910883	230910883	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacgaaggtggggatgTggactgcaaactgtagggtt	10	8	17	6	1	0	0	0	0	0	0	0	4	0	3	1	6	2	3	1	6	3	2	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.80A>G	p.His27Arg	p.H27R	ENST00000392040	2/2	88	78	10	162	161	1	strelka-varscan-mutect	GPR55,missense_variant,p.His27Arg,ENST00000392040,NM_005683.3;GPR55,missense_variant,p.His27Arg,ENST00000622008,;GPR55,missense_variant,p.His27Arg,ENST00000392039,;GPR55,missense_variant,p.His27Arg,ENST00000438398,;AC012507.4,downstream_gene_variant,,ENST00000454890,;GPR55,missense_variant,p.His27Arg,ENST00000444078,;	C	ENST00000392040	Transcript	missense_variant	273/3828	80/960	27/319	H/R	cAc/cGc		1		-1	GPR55	HGNC	HGNC:4511	protein_coding	YES	CCDS2480.1	ENSP00000375894	Q9Y2T6	A8K858	UPI000006D64F	NM_005683.3	tolerated(0.08)		2/2		Gene3D:1.20.1070.10,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF56,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV	5			1										PASS		rs1194338874	.												C	3	2	31	230910883	230910883	T	C	1	0	0	0	0	1	0	0	0	6584	1696	59	5		5	GPR55	2	230910883	Missense_Mutation	SNP	T	C3L-02345_TP	11278537	230910883	11282646	46	9130											
TIGD1	0	.	GRCh38	chr2	232548445	232548445	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacaatgttcacagcatCttcaccaggtgtagattcca	12	12	6	11	0	4	1	3	0	1	1	5	1	5	1	2	1	2	3	2	1	3	5	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1438G>T	p.Asp480Tyr	p.D480Y	ENST00000408957	1/1	76	67	9	77	77	0	strelka-varscan-mutect	TIGD1,missense_variant,p.Asp480Tyr,ENST00000408957,NM_145702.2;EIF4E2,upstream_gene_variant,,ENST00000409514,NM_001282958.1;EIF4E2,upstream_gene_variant,,ENST00000409098,NM_001276336.1;CHRNG,downstream_gene_variant,,ENST00000389494,NM_005199.4;EIF4E2,upstream_gene_variant,,ENST00000258416,NM_004846.3;CHRNG,downstream_gene_variant,,ENST00000389492,;EIF4E2,upstream_gene_variant,,ENST00000409167,;EIF4E2,upstream_gene_variant,,ENST00000454501,;EIF4E2,upstream_gene_variant,,ENST00000409495,;EIF4E2,upstream_gene_variant,,ENST00000409322,;EIF4E2,upstream_gene_variant,,ENST00000409394,NM_001276337.1;TIGD1,downstream_gene_variant,,ENST00000580185,;EIF4E2,upstream_gene_variant,,ENST00000479834,;EIF4E2,upstream_gene_variant,,ENST00000498242,;EIF4E2,upstream_gene_variant,,ENST00000463074,;	A	ENST00000408957	Transcript	missense_variant	2148/2625	1438/1776	480/591	D/Y	Gat/Tat		1		-1	TIGD1	HGNC	HGNC:14523	protein_coding	YES	CCDS2495.1	ENSP00000386186	Q96MW7		UPI000006D1F3	NM_145702.2	deleterious(0.03)		1/1		hmmpanther:PTHR19303:SF253,hmmpanther:PTHR19303																	MODERATE		SNV				1										PASS		.	.												A	3	1	31	232548445	232548445	C	A	1	0	0	0	0	1	0	0	0	16333	913	32	2		2	TIGD1	2	232548445	Missense_Mutation	SNP	C	C3L-02345_TP	1637562	232548445	9645084	47	9131											
UGT1A1	0	.	GRCh38	chr2	233760913	233760913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacatgaccttcctgcagcGggtgaagaacatgctcattg	10	10	10	11	1	2	3	2	2	0	1	3	3	3	3	2	1	4	2	2	1	2	2	rs747662045		C3L-02345_TP	C3L-02345_NB	G	G																c.626G>T	p.Arg209Leu	p.R209L	ENST00000305208	1/5	74	57	17	71	71	0	strelka-varscan-mutect	UGT1A1,missense_variant,p.Arg209Leu,ENST00000360418,;UGT1A1,missense_variant,p.Arg209Leu,ENST00000305208,NM_000463.2;UGT1A6,intron_variant,,ENST00000305139,NM_001072.3;UGT1A9,intron_variant,,ENST00000354728,NM_021027.2;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A4,intron_variant,,ENST00000373409,NM_007120.2;UGT1A3,intron_variant,,ENST00000482026,NM_019093.2;UGT1A5,intron_variant,,ENST00000373414,NM_019078.1;UGT1A7,intron_variant,,ENST00000373426,NM_019077.2;UGT1A10,intron_variant,,ENST00000373445,;UGT1A6,intron_variant,,ENST00000373424,NM_205862.1;UGT1A6,intron_variant,,ENST00000406651,;UGT1A6,downstream_gene_variant,,ENST00000480628,;UGT1A4,intron_variant,,ENST00000450233,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A6,intron_variant,,ENST00000484784,;	T	ENST00000305208	Transcript	missense_variant	666/2382	626/1602	209/533	R/L	cGg/cTg	rs747662045,COSM5611129,COSM574371	1		1	UGT1A1	HGNC	HGNC:12530	protein_coding	YES	CCDS2510.1	ENSP00000304845	P22309	Q5DT03	UPI00000000C2	NM_000463.2	deleterious(0)		1/5		hmmpanther:PTHR11926:SF393,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs747662045	.												T	3	4	31	233760913	233760913	G	T	1	0	0	0	0	1	0	0	0	17469	1116	39	1		1	UGT1A1	2	233760913	Missense_Mutation	SNP	G	C3L-02345_TP	1212468	233760913	8432616	48	9132											
MROH2A	0	.	GRCh38	chr2	233794380	233794380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtgaagctgggggtgatCaagtccctgaagcccatgct	9	8	14	10	0	1	3	1	3	0	0	2	3	2	3	2	3	3	2	2	3	3	0	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.840C>G	p.Ile280Met	p.I280M	ENST00000610772	8/42	188	149	39	185	185	0	strelka-varscan-mutect	MROH2A,missense_variant,p.Ile280Met,ENST00000389758,;MROH2A,missense_variant,p.Ile280Met,ENST00000610772,NM_001287395.1;MROH2A,downstream_gene_variant,,ENST00000480634,;MROH2A,upstream_gene_variant,,ENST00000477506,;	G	ENST00000610772	Transcript	missense_variant	933/5324	840/5067	280/1688	I/M	atC/atG		1		1	MROH2A	HGNC	HGNC:27936	protein_coding	YES	CCDS74674.1	ENSP00000477597		A0A087WT58	UPI00021AED4F	NM_001287395.1	deleterious(0)		8/42		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14																	MODERATE	1	SNV	5			1										PASS		rs1439068456	.												G	3	3	31	233794380	233794380	C	G	1	0	0	0	0	1	0	0	0	9744	816	29	4		4	MROH2A	2	233794380	Missense_Mutation	SNP	C	C3L-02345_TP	33467	233794380	8399149	49	9133											
NDUFA10	0	.	GRCh38	chr2	239982214	239982214	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccgctgcgggtaggggatCcccagctacaaggttagacg	8	6	15	12	3	0	1	0	0	0	1	1	2	1	2	3	4	3	4	3	4	4	3	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1005G>T	p.=	p.G335G	ENST00000404554	10/11	232	194	38	241	241	0	strelka-varscan-mutect	NDUFA10,synonymous_variant,p.=,ENST00000404554,;NDUFA10,intron_variant,,ENST00000252711,NM_004544.3;NDUFA10,intron_variant,,ENST00000620965,;NDUFA10,intron_variant,,ENST00000443626,;NDUFA10,intron_variant,,ENST00000419408,;NDUFA10,intron_variant,,ENST00000444548,;NDUFA10,intron_variant,,ENST00000448880,;NDUFA10,downstream_gene_variant,,ENST00000307300,;NDUFA10,intron_variant,,ENST00000485344,;NDUFA10,intron_variant,,ENST00000476216,;	A	ENST00000404554	Transcript	synonymous_variant	1010/1557	1005/1173	335/390	G	ggG/ggT		1		-1	NDUFA10	HGNC	HGNC:7684	protein_coding			ENSP00000385697		E7ESZ7	UPI000173A5F9				10/11		PIRSF_domain:PIRSF000543,hmmpanther:PTHR10513,hmmpanther:PTHR10513:SF15																	LOW		SNV	5			1										PASS		.	.												A	2	1	31	239982214	239982214	C	A	1	0	0	0	0	0	0	0	1	10281	869	30	2		2	NDUFA10	2	239982214	Silent	SNP	C	C3L-02345_TP	6187834	239982214	2211315	50	9134											
DCAF1	0	.	GRCh38	chr3	51418681	51418681	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggaaggaacccttaccctGgaaggttcaagatgtgtgat	12	10	12	7	0	1	2	1	1	0	1	1	5	1	5	2	4	2	1	2	4	6	3	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.3432C>G	p.=	p.S1144S	ENST00000423656	15/25	68	63	5	110	110	0	strelka-varscan-mutect	DCAF1,synonymous_variant,p.=,ENST00000504652,NM_001171904.1;DCAF1,synonymous_variant,p.=,ENST00000423656,NM_014703.2;DCAF1,synonymous_variant,p.=,ENST00000335891,;	C	ENST00000423656	Transcript	synonymous_variant	3562/5946	3432/4524	1144/1507	S	tcC/tcG		1		-1	DCAF1	HGNC	HGNC:30911	protein_coding	YES	CCDS74943.1	ENSP00000393183	Q9Y4B6		UPI00000716AC	NM_014703.2			15/25		hmmpanther:PTHR13129,hmmpanther:PTHR13129:SF4,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	31	51418681	51418681	G	C	1	0	0	0	0	0	0	0	1	4061	1362	47	4		4	DCAF1	3	51418681	Silent	SNP	G	C3L-02345_TP		51418681	146876878	51	9135											
P2RY13	0	.	GRCh38	chr3	151328905	151328905	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcaagaaaaccactgtgtAgagggctgggaataccagct	13	7	13	8	0	1	2	1	0	0	2	1	3	1	3	2	3	3	3	2	3	6	2	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.151T>C	p.Tyr51His	p.Y51H	ENST00000325602	2/2	254	220	34	246	246	0	strelka-varscan-mutect	P2RY13,missense_variant,p.Tyr51His,ENST00000325602,NM_176894.2;MED12L,intron_variant,,ENST00000474524,NM_053002.5;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000491549,;MED12L,intron_variant,,ENST00000468305,;	G	ENST00000325602	Transcript	missense_variant	171/2764	151/1065	51/354	Y/H	Tac/Cac		1		-1	P2RY13	HGNC	HGNC:4537	protein_coding	YES	CCDS3158.2	ENSP00000320376	Q9BPV8		UPI000020A470	NM_176894.2	deleterious(0)		2/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF10,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	31	151328905	151328905	A	G	1	0	0	0	0	1	0	0	0	11423	420	15	5		5	P2RY13	3	151328905	Missense_Mutation	SNP	A	C3L-02345_TP	99910224	151328905	46966654	52	9136											
OTOL1	0	.	GRCh38	chr3	161503296	161503296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtgaggggggtatgaaagGggaaaaaggtagcaaaggag	16	4	20	1	0	0	2	0	2	0	0	0	4	0	4	0	8	1	3	0	8	6	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.788G>T	p.Gly263Val	p.G263V	ENST00000327928	4/4	25	15	10	41	41	0	strelka-varscan-mutect	OTOL1,missense_variant,p.Gly263Val,ENST00000327928,NM_001080440.1;	T	ENST00000327928	Transcript	missense_variant	788/1434	788/1434	263/477	G/V	gGg/gTg		1		1	OTOL1	HGNC	HGNC:34071	protein_coding	YES	CCDS46948.1	ENSP00000330808	A6NHN0		UPI0000D61BA3	NM_001080440.1	deleterious(0)		4/4		Pfam_domain:PF01391,hmmpanther:PTHR24023,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	31	161503296	161503296	G	T	1	0	0	0	0	1	0	0	0	11372	1232	43	2		2	OTOL1	3	161503296	Missense_Mutation	SNP	G	C3L-02345_TP	10174391	161503296	36792263	53	9137											
AASDH	0	.	GRCh38	chr4	56351373	56351373	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaatttttcccaaaggTcctctttcccactgagctta	9	15	5	12	0	1	1	0	1	1	0	4	1	4	1	3	1	1	2	3	1	3	5	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.1661A>G	p.Asp554Gly	p.D554G	ENST00000205214	10/15	194	166	28	232	232	0	strelka-varscan-mutect	AASDH,missense_variant,p.Asp554Gly,ENST00000205214,NM_181806.3;AASDH,missense_variant,p.Asp401Gly,ENST00000602986,NM_001286669.1;AASDH,missense_variant,p.Asp454Gly,ENST00000513376,NM_001286668.1;AASDH,missense_variant,p.Asp554Gly,ENST00000451613,NM_001286671.1;AASDH,missense_variant,p.Asp554Gly,ENST00000502617,NM_001286672.1;AASDH,downstream_gene_variant,,ENST00000510762,;AASDH,3_prime_UTR_variant,,ENST00000514745,NM_001286670.1;AASDH,3_prime_UTR_variant,,ENST00000503808,;RPL7AP31,upstream_gene_variant,,ENST00000470544,;	C	ENST00000205214	Transcript	missense_variant	1842/3590	1661/3297	554/1098	D/G	gAc/gGc		1		-1	AASDH	HGNC	HGNC:23993	protein_coding	YES	CCDS3504.1	ENSP00000205214	Q4L235		UPI000020B8EF	NM_181806.3	deleterious(0.01)		10/15		hmmpanther:PTHR24095:SF185,hmmpanther:PTHR24095,Gene3D:1.10.1200.10,Superfamily_domains:SSF47336																	MODERATE	1	SNV	1			1										PASS		rs747906678	.												C	3	2	31	56351373	56351373	T	C	1	0	0	0	0	1	0	0	0	26	1667	58	5		5	AASDH	4	56351373	Missense_Mutation	SNP	T	C3L-02345_TP		56351373	133863182	54	9138											
EPHA5	0	.	GRCh38	chr4	65367387	65367387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaaaatgcatcttttcctCttctggatcttgttttgctt	7	20	6	8	0	4	1	0	1	4	0	5	2	5	2	1	1	2	3	1	1	2	7			C3L-02345_TP	C3L-02345_NB	C	C																c.1897G>A	p.Glu633Lys	p.E633K	ENST00000622150	10/18	238	201	37	277	277	0	strelka-varscan-mutect	EPHA5,missense_variant,p.Glu633Lys,ENST00000622150,NM_001281765.1;EPHA5,missense_variant,p.Glu611Lys,ENST00000613740,NM_001281766.1;EPHA5,missense_variant,p.Glu632Lys,ENST00000273854,NM_004439.6;EPHA5,missense_variant,p.Glu633Lys,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Glu469Lys,ENST00000432638,;EPHA5,missense_variant,p.Glu610Lys,ENST00000354839,NM_182472.3;	T	ENST00000622150	Transcript	missense_variant	2650/8421	1897/3117	633/1038	E/K	Gag/Aag	COSM733897	1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1	tolerated(0.08)		10/18		Pfam_domain:PF14575,PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17											1						MODERATE	1	SNV	1		1	1										PASS		rs1198864954	.												T	3	4	31	65367387	65367387	C	T	1	0	0	0	0	1	0	0	0	5017	922	32	3		3	EPHA5	4	65367387	Missense_Mutation	SNP	C	C3L-02345_TP	9016014	65367387	124847168	55	9139											
RUFY3	0	.	GRCh38	chr4	70722617	70722617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatatgccaacccccaccaCtgacaagatcacacaggctg	13	5	7	16	1	1	2	1	1	0	1	1	3	1	2	4	1	2	1	4	1	3	1	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.44C>T	p.Thr15Ile	p.T15I	ENST00000381006	1/18	118	97	21	130	129	1	strelka-varscan-mutect	RUFY3,missense_variant,p.Thr15Ile,ENST00000226328,NM_001291994.1,NM_014961.4;RUFY3,missense_variant,p.Thr15Ile,ENST00000381006,NM_001037442.3;RUFY3,intron_variant,,ENST00000417478,NM_001130709.1;RUFY3,intron_variant,,ENST00000503876,;	T	ENST00000381006	Transcript	missense_variant	623/3098	44/1863	15/620	T/I	aCt/aTt		1		1	RUFY3	HGNC	HGNC:30285	protein_coding	YES	CCDS34001.1	ENSP00000370394	Q7L099		UPI00005FB126	NM_001037442.3	deleterious(0.01)		1/18		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	31	70722617	70722617	C	T	1	0	0	0	0	1	0	0	0	14002	565	20	3		3	RUFY3	4	70722617	Missense_Mutation	SNP	C	C3L-02345_TP	5355230	70722617	119491938	56	9140											
NPFFR2	0	.	GRCh38	chr4	72147405	72147405	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctgctttttattctcTcatggctgcccctgtggact	3	16	9	13	0	2	0	1	0	1	0	3	1	2	1	3	3	2	2	3	3	1	4	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.1162T>C	p.Ser388Pro	p.S388P	ENST00000308744	4/4	339	268	71	418	417	1	strelka-varscan-mutect	NPFFR2,missense_variant,p.Ser388Pro,ENST00000308744,NM_004885.2;NPFFR2,missense_variant,p.Ser289Pro,ENST00000395999,NM_001144756.1;NPFFR2,missense_variant,p.Ser286Pro,ENST00000358749,NM_053036.2;NPFFR2,3_prime_UTR_variant,,ENST00000344413,;NPFFR2,non_coding_transcript_exon_variant,,ENST00000506359,;	C	ENST00000308744	Transcript	missense_variant	1260/1922	1162/1569	388/522	S/P	Tca/Cca		1		1	NPFFR2	HGNC	HGNC:4525	protein_coding	YES	CCDS3551.1	ENSP00000307822	Q9Y5X5		UPI000012FFBD	NM_004885.2	deleterious(0)		4/4		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF3,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	31	72147405	72147405	T	C	1	0	0	0	0	1	0	0	0	10626	1551	54	5		5	NPFFR2	4	72147405	Missense_Mutation	SNP	T	C3L-02345_TP	1424788	72147405	118067150	57	9141											
GRID2	0	.	GRCh38	chr4	93422891	93422891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttaactacgaaatttacGtagcaccggatcacaaatac	15	11	6	9	3	1	0	1	0	0	0	1	2	1	1	1	1	5	3	1	1	7	7	rs10034345		C3L-02345_TP	C3L-02345_NB	G	G																c.1468G>T	p.Val490Leu	p.V490L	ENST00000282020	10/16	329	281	48	369	369	0	strelka-varscan-mutect	GRID2,missense_variant,p.Val490Leu,ENST00000282020,NM_001510.3;GRID2,missense_variant,p.Val409Leu,ENST00000611049,;GRID2,missense_variant,p.Val395Leu,ENST00000510992,NM_001286838.1;	T	ENST00000282020	Transcript	missense_variant	2503/6117	1468/3024	490/1007	V/L	Gta/Tta	rs10034345	1		1	GRID2	HGNC	HGNC:4576	protein_coding	YES	CCDS3637.1	ENSP00000282020	O43424		UPI00001AEA78	NM_001510.3	tolerated(0.14)		10/16		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF109,Pfam_domain:PF10613,Gene3D:3.40.190.10,SMART_domains:SM00079,SMART_domains:SM00918,Superfamily_domains:SSF53850,Prints_domain:PR00177																	MODERATE	1	SNV	1			1										PASS		rs10034345	.												T	3	4	31	93422891	93422891	G	T	1	0	0	0	0	1	0	0	0	6652	1145	40	1		1	GRID2	4	93422891	Missense_Mutation	SNP	G	C3L-02345_TP	21275486	93422891	96791664	58	9142											
POU4F2	0	.	GRCh38	chr4	146639369	146639369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagctccagcagcagtGgcagcagcggcggcgggggc	7	2	19	13	3	0	0	0	0	0	0	1	0	1	0	1	5	6	7	1	5	0	0	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.229G>T	p.Gly77Cys	p.G77C	ENST00000281321	1/2	97	76	21	71	71	0	strelka-varscan-mutect	POU4F2,missense_variant,p.Gly77Cys,ENST00000281321,NM_004575.2;	T	ENST00000281321	Transcript	missense_variant	477/3144	229/1230	77/409	G/C	Ggc/Tgc		1		1	POU4F2	HGNC	HGNC:9219	protein_coding	YES	CCDS34074.1	ENSP00000281321	Q12837		UPI000013DC6C	NM_004575.2	tolerated_low_confidence(0.1)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR11636:SF41,hmmpanther:PTHR11636																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	146639369	146639369	G	T	1	0	0	0	0	1	0	0	0	12395	1348	47	2		2	POU4F2	4	146639369	Missense_Mutation	SNP	G	C3L-02345_TP	53216478	146639369	43575186	59	9143											
GRIA2	0	.	GRCh38	chr4	157334110	157334110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaataagactgttgttgtcaCcacaattttggtaatttgct	11	16	8	6	0	1	1	1	0	0	1	1	2	1	1	1	1	1	4	1	1	4	7	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1256C>A	p.Thr419Asn	p.T419N	ENST00000296526	9/16	185	136	49	146	146	0	strelka-varscan-mutect	GRIA2,missense_variant,p.Thr419Asn,ENST00000296526,NM_000826.3;GRIA2,missense_variant,p.Thr372Asn,ENST00000393815,NM_001083620.1;GRIA2,missense_variant,p.Thr419Asn,ENST00000264426,NM_001083619.1;GRIA2,missense_variant,p.Thr372Asn,ENST00000507898,;GRIA2,missense_variant,p.Thr372Asn,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	A	ENST00000296526	Transcript	missense_variant	1581/5621	1256/2652	419/883	T/N	aCc/aAc		1		1	GRIA2	HGNC	HGNC:4572	protein_coding	YES	CCDS3797.1	ENSP00000296526	P42262		UPI000002AA8D	NM_000826.3	deleterious(0)		9/16		Gene3D:3.40.190.10,Pfam_domain:PF10613,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF206,SMART_domains:SM00079,Superfamily_domains:SSF53850																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	157334110	157334110	C	A	1	0	0	0	0	1	0	0	0	6648	507	18	2		2	GRIA2	4	157334110	Missense_Mutation	SNP	C	C3L-02345_TP	10694741	157334110	32880445	60	9144											
CTNND2	0	.	GRCh38	chr5	11412061	11412061	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccactgaaactgctctTctgctgaactgtaaaaaaga	14	10	7	10	0	2	3	0	2	2	1	2	3	2	3	1	0	5	3	1	0	5	2	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.296A>G	p.Glu99Gly	p.E99G	ENST00000304623	4/22	188	167	21	228	228	0	strelka-varscan-mutect	CTNND2,missense_variant,p.Glu99Gly,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Glu8Gly,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.Glu8Gly,ENST00000503622,NM_001288716.1;CTNND2,missense_variant,p.Glu85Gly,ENST00000508761,;CTNND2,missense_variant,p.Glu8Gly,ENST00000513598,;CTNND2,missense_variant,p.Glu85Gly,ENST00000502551,;CTNND2,non_coding_transcript_exon_variant,,ENST00000511278,;CTNND2,intron_variant,,ENST00000504354,;CTNND2,missense_variant,p.Glu99Gly,ENST00000513588,;CTNND2,missense_variant,p.Glu99Gly,ENST00000504499,;	C	ENST00000304623	Transcript	missense_variant	486/5481	296/3678	99/1225	E/G	gAa/gGa		1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	deleterious(0.04)		4/22		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	31	11412061	11412061	T	C	1	0	0	0	0	1	0	0	0	3829	1783	62	5		5	CTNND2	5	11412061	Missense_Mutation	SNP	T	C3L-02345_TP		11412061	170126198	61	9145											
DNAH5	0	.	GRCh38	chr5	13810198	13810198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagcgccgcccccgcgctCcacagcagcgcgaacacgaa	9	2	10	20	7	0	0	0	0	0	0	2	2	2	0	5	0	4	2	5	0	2	0	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.7470G>T	p.Trp2490Cys	p.W2490C	ENST00000265104	45/79	123	94	29	166	166	0	strelka-varscan-mutect	DNAH5,missense_variant,p.Trp2490Cys,ENST00000265104,NM_001369.2;DNAH5,non_coding_transcript_exon_variant,,ENST00000512443,;	A	ENST00000265104	Transcript	missense_variant	7575/15633	7470/13875	2490/4624	W/C	tgG/tgT		1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2	deleterious(0)		45/79		hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	13810198	13810198	C	A	1	0	0	0	0	1	0	0	0	4419	856	30	2		2	DNAH5	5	13810198	Missense_Mutation	SNP	C	C3L-02345_TP	2398137	13810198	167728061	62	9146											
PDZD2	0	.	GRCh38	chr5	32091127	32091127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccagttcagccagtgataCgggtgaagctgcccaggatc	10	7	12	12	1	1	2	1	2	0	0	2	3	1	3	3	2	4	2	3	2	2	2	rs768394344		C3L-02345_TP	C3L-02345_NB	C	C																c.7679C>T	p.Thr2560Met	p.T2560M	ENST00000438447	20/25	43	34	9	48	48	0	strelka-varscan-mutect	PDZD2,missense_variant,p.Thr2560Met,ENST00000438447,NM_178140.2;	T	ENST00000438447	Transcript	missense_variant	8067/11704	7679/8520	2560/2839	T/M	aCg/aTg	rs768394344,COSM257704	1		1	PDZD2	HGNC	HGNC:18486	protein_coding	YES	CCDS34137.1	ENSP00000402033	O15018	A0A024RE15	UPI000069648B	NM_178140.2	tolerated(0.16)		20/25		hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF16											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs768394344	.												T	3	4	31	32091127	32091127	C	T	1	0	0	0	0	1	0	0	0	11789	536	19	1		1	PDZD2	5	32091127	Missense_Mutation	SNP	C	C3L-02345_TP	18280929	32091127	149447132	63	9147											
C6	0	.	GRCh38	chr5	41160326	41160326	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgttccgttttgtcacTgcacaggggatgtttcttac	6	16	11	8	1	2	0	1	0	1	0	3	1	3	1	1	3	2	5	1	3	1	6	rs369321987		C3L-02345_TP	C3L-02345_NB	T	T																c.1500A>T	p.=	p.A500A	ENST00000263413	11/18	320	267	53	380	380	0	strelka-varscan-mutect	C6,synonymous_variant,p.=,ENST00000263413,NM_001115131.2;C6,synonymous_variant,p.=,ENST00000337836,NM_000065.3;C6,non_coding_transcript_exon_variant,,ENST00000475349,;C6,non_coding_transcript_exon_variant,,ENST00000473450,;C6,non_coding_transcript_exon_variant,,ENST00000511470,;	A	ENST00000263413	Transcript	synonymous_variant	1765/3661	1500/2805	500/934	A	gcA/gcT	rs369321987,COSM3697359	1		-1	C6	HGNC	HGNC:1339	protein_coding	YES	CCDS3936.1	ENSP00000263413	P13671		UPI000013D401	NM_001115131.2			11/18		PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,Pfam_domain:PF01823,SMART_domains:SM00457,Prints_domain:PR00764											0,1						LOW	1	SNV	1		0,1	1										PASS		rs369321987	.												A	2	1	31	41160326	41160326	T	A	1	0	0	0	0	0	0	0	1	2111	1567	55	4		4	C6	5	41160326	Silent	SNP	T	C3L-02345_TP	9069199	41160326	140377933	64	9148											
IGIP	0	.	GRCh38	chr5	140128607	140128607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaacgtgttgtgcatcaGccggcttgagtttgttcaat	9	13	11	8	2	2	1	2	1	0	0	2	1	2	1	1	1	4	6	1	1	2	4	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.131G>T	p.Ser44Ile	p.S44I	ENST00000333305	1/1	298	241	57	319	319	0	strelka-varscan-mutect	IGIP,missense_variant,p.Ser44Ile,ENST00000333305,NM_001007189.1;PURA,downstream_gene_variant,,ENST00000331327,NM_005859.4;	T	ENST00000333305	Transcript	missense_variant	2673/3458	131/162	44/53	S/I	aGc/aTc		1		1	IGIP	HGNC	HGNC:33847	protein_coding	YES	CCDS34244.1	ENSP00000327344	A6NJ69	A0A158RFU4	UPI000046D390	NM_001007189.1	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR39224																	MODERATE	1	SNV				1										PASS		rs1197009380	.												T	3	4	31	140128607	140128607	G	T	1	0	0	0	0	1	0	0	0	7499	971	34	2		2	IGIP	5	140128607	Missense_Mutation	SNP	G	C3L-02345_TP	98968281	140128607	41409652	65	9149											
PCDHB5	0	.	GRCh38	chr5	141136362	141136362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagggcattggatttcgagGcaactccatattataacgtg	13	11	10	7	2	0	0	0	0	0	0	2	2	1	1	1	3	2	2	1	3	5	5			C3L-02345_TP	C3L-02345_NB	G	G																c.928G>T	p.Ala310Ser	p.A310S	ENST00000231134	1/1	112	89	23	146	145	1	strelka-varscan-mutect	PCDHB5,missense_variant,p.Ala310Ser,ENST00000231134,NM_015669.4;PCDHB5,intron_variant,,ENST00000623915,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;CH17-140K24.2,downstream_gene_variant,,ENST00000624192,;	T	ENST00000231134	Transcript	missense_variant	1145/3408	928/2388	310/795	A/S	Gca/Tca	COSM5615467	1		1	PCDHB5	HGNC	HGNC:8690	protein_coding	YES	CCDS4247.1	ENSP00000231134	Q9Y5E4		UPI0000169DEA	NM_015669.4	tolerated_low_confidence(0.44)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF90,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE	1	SNV			1	1										PASS		rs975207995	.												T	3	4	31	141136362	141136362	G	T	1	0	0	0	0	1	0	0	0	11632	1203	42	2		2	PCDHB5	5	141136362	Missense_Mutation	SNP	G	C3L-02345_TP	1007755	141136362	40401897	66	9150											
PCDHB7	0	.	GRCh38	chr5	141174944	141174944	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgctcttcctcctctcggtGctcctgttcgtggcggtgcg	0	14	12	15	5	2	0	0	0	2	0	8	0	5	0	3	3	2	3	3	3	0	2	rs150314773		C3L-02345_TP	C3L-02345_NB	G	G																c.2109G>T	p.=	p.V703V	ENST00000231137	1/1	374	302	72	454	453	1	strelka-varscan-mutect	PCDHB7,synonymous_variant,p.=,ENST00000231137,NM_018940.3;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.4;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,upstream_gene_variant,,ENST00000625128,;AC005754.7,upstream_gene_variant,,ENST00000624802,;CH17-140K24.4,upstream_gene_variant,,ENST00000623995,;	T	ENST00000231137	Transcript	synonymous_variant	2326/3765	2109/2382	703/793	V	gtG/gtT	rs150314773	1		1	PCDHB7	HGNC	HGNC:8692	protein_coding	YES	CCDS4249.1	ENSP00000231137	Q9Y5E2		UPI00001273E3	NM_018940.3			1/1		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW		SNV				1										PASS		rs150314773	.												T	2	4	31	141174944	141174944	G	T	1	0	0	0	0	0	0	0	1	11634	1306	46	2		2	PCDHB7	5	141174944	Silent	SNP	G	C3L-02345_TP	38582	141174944	40363315	67	9151											
PCDHB12	0	.	GRCh38	chr5	141210617	141210617	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcagaacggctccgcGccctgcaccgagctggtgcc	5	5	13	18	5	0	1	0	0	0	1	1	2	1	1	5	2	5	5	5	2	1	0	rs782059381		C3L-02345_TP	C3L-02345_NB	G	G																c.1710G>A	p.=	p.A570A	ENST00000239450	1/1	756	671	85	839	839	0	varscan-mutect	PCDHB12,synonymous_variant,p.=,ENST00000239450,NM_018932.3;PCDHB12,synonymous_variant,p.=,ENST00000624949,;PCDHB12,3_prime_UTR_variant,,ENST00000622978,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.3;CH17-140K24.2,intron_variant,,ENST00000624192,;	A	ENST00000239450	Transcript	synonymous_variant	1899/3853	1710/2388	570/795	A	gcG/gcA	rs782059381,COSM5284619	1		1	PCDHB12	HGNC	HGNC:8683	protein_coding	YES	CCDS4254.1	ENSP00000239450	Q9Y5F1		UPI000000DAFD	NM_018932.3			1/1		hmmpanther:PTHR24028:SF59,hmmpanther:PTHR24028,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313											0,1						LOW	1	SNV			0,1	1										PASS		rs782059381	.												A	2	1	31	141210617	141210617	G	A	1	0	0	0	0	0	0	0	1	11624	1074	38	1		1	PCDHB12	5	141210617	Silent	SNP	G	C3L-02345_TP	35673	141210617	40327642	68	9152											
PCDHGA6	0	.	GRCh38	chr5	141375515	141375515	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcttctctgtgaatgcactgGaccctgacgtggaccagaac	9	10	10	12	1	2	3	0	2	2	1	3	5	2	5	2	2	2	1	2	2	2	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1432G>C	p.Asp478His	p.D478H	ENST00000517434	1/4	352	289	63	499	499	0	strelka-varscan-mutect	PCDHGA6,missense_variant,p.Asp478His,ENST00000610583,NM_032086.1;PCDHGA6,missense_variant,p.Asp478His,ENST00000517434,NM_018919.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB3,downstream_gene_variant,,ENST00000618934,NM_032097.2;PCDHGA3,intron_variant,,ENST00000612467,;	C	ENST00000517434	Transcript	missense_variant	1602/4775	1432/2799	478/932	D/H	Gac/Cac		1		1	PCDHGA6	HGNC	HGNC:8704	protein_coding	YES	CCDS54926.1	ENSP00000429601	Q9Y5G7		UPI00000715C8	NM_018919.2	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF107,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	31	141375515	141375515	G	C	1	0	0	0	0	1	0	0	0	11645	1174	41	4		4	PCDHGA6	5	141375515	Missense_Mutation	SNP	G	C3L-02345_TP	164898	141375515	40162744	69	9153											
PCDHGB7	0	.	GRCh38	chr5	141419245	141419245	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacctggtccacgtgccAgaaaacaaccagccgggtgc	10	5	11	15	2	0	1	0	0	0	1	1	1	1	1	6	2	6	0	6	2	4	1	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.1386A>G	p.=	p.P462P	ENST00000398594	1/4	241	183	58	282	282	0	strelka-varscan-mutect	PCDHGB7,synonymous_variant,p.=,ENST00000398594,NM_018927.3;PCDHGB7,synonymous_variant,p.=,ENST00000612073,NM_032101.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGA11,upstream_gene_variant,,ENST00000398587,NM_018914.2;PCDHGA10,downstream_gene_variant,,ENST00000612503,NM_032090.1;PCDHGA11,upstream_gene_variant,,ENST00000622044,NM_032091.1;PCDHGA11,upstream_gene_variant,,ENST00000518882,NM_032092.1;PCDHGA3,intron_variant,,ENST00000612467,;	G	ENST00000398594	Transcript	synonymous_variant	1555/4765	1386/2790	462/929	P	ccA/ccG		1		1	PCDHGB7	HGNC	HGNC:8714	protein_coding	YES	CCDS47293.1	ENSP00000381594	Q9Y5F8		UPI000007141F	NM_018927.3			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF113,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	31	141419245	141419245	A	G	1	0	0	0	0	0	0	0	1	11655	175	7	5		5	PCDHGB7	5	141419245	Silent	SNP	A	C3L-02345_TP	43730	141419245	40119014	70	9154											
ARHGAP26	0	.	GRCh38	chr5	143207255	143207255	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcccatgttctcggcGccatccagccctatgcccac	5	10	8	18	2	2	0	0	0	2	0	4	0	3	0	5	2	2	1	5	2	1	3	rs79503222		C3L-02345_TP	C3L-02345_NB	G	G																c.2046G>T	p.=	p.A682A	ENST00000274498	21/23	256	200	56	309	309	0	strelka-varscan-mutect	ARHGAP26,synonymous_variant,p.=,ENST00000378004,NM_001135608.1;ARHGAP26,synonymous_variant,p.=,ENST00000274498,NM_015071.4;ARHGAP26,synonymous_variant,p.=,ENST00000443674,;ARHGAP26,synonymous_variant,p.=,ENST00000425417,;ARHGAP26,synonymous_variant,p.=,ENST00000421521,;ARHGAP26,intron_variant,,ENST00000418236,;ARHGAP26,intron_variant,,ENST00000486650,;ARHGAP26,intron_variant,,ENST00000419676,;ARHGAP26,intron_variant,,ENST00000424007,;	T	ENST00000274498	Transcript	synonymous_variant	2424/6862	2046/2445	682/814	A	gcG/gcT	rs79503222,COSM590417	1		1	ARHGAP26	HGNC	HGNC:17073	protein_coding	YES	CCDS4277.1	ENSP00000274498	Q9UNA1		UPI0000130D6B	NM_015071.4			21/23		hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF4,Low_complexity_(Seg):seg,Superfamily_domains:SSF50044											0,1						LOW	1	SNV	1		0,1	1										PASS		rs79503222	.												T	2	4	31	143207255	143207255	G	T	1	0	0	0	0	0	0	0	1	1000	1074	38	1		1	ARHGAP26	5	143207255	Silent	SNP	G	C3L-02345_TP	1788010	143207255	38331004	71	9155											
SGCD	0	.	GRCh38	chr5	156589311	156589311	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaaagtgctaactcagctTataacaggtaagaaaaggga	18	8	9	6	0	1	1	1	0	0	1	1	2	1	2	0	2	4	3	0	2	8	5	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.375T>A	p.=	p.L125L	ENST00000337851	5/9	95	84	11	135	135	0	strelka-varscan-mutect	SGCD,synonymous_variant,p.=,ENST00000435422,NM_001128209.1;SGCD,synonymous_variant,p.=,ENST00000337851,NM_000337.5;SGCD,synonymous_variant,p.=,ENST00000517913,NM_172244.2;SGCD,downstream_gene_variant,,ENST00000524347,;	A	ENST00000337851	Transcript	synonymous_variant	894/1606	375/873	125/290	L	ctT/ctA		1		1	SGCD	HGNC	HGNC:10807	protein_coding	YES	CCDS47325.1	ENSP00000338343	Q92629		UPI00001678CF	NM_000337.5			5/9		hmmpanther:PTHR12939:SF6,hmmpanther:PTHR12939,Pfam_domain:PF04790																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	31	156589311	156589311	T	A	1	0	0	0	0	0	0	0	1	14461	1741	61	4		4	SGCD	5	156589311	Silent	SNP	T	C3L-02345_TP	13382056	156589311	24948948	72	9156											
FOXI1	0	.	GRCh38	chr5	170108397	170108397	+	Missense_Mutation	SNP	C	C	A																															accaggactgagccctgagcCcagtgacaagacggggcaga																								novel		C3L-02345_TP	C3L-02345_NB	C	C																c.923C>A	p.Pro308His	p.P308H	ENST00000306268	2/2	97	78	19	154	154	0	strelka-varscan-mutect	FOXI1,missense_variant,p.Pro213His,ENST00000449804,NM_144769.2;FOXI1,missense_variant,p.Pro308His,ENST00000306268,NM_012188.4;	A	ENST00000306268	Transcript	missense_variant	984/1990	923/1137	308/378	P/H	cCc/cAc		1		1	FOXI1	HGNC	HGNC:3815	protein_coding	YES	CCDS4372.1	ENSP00000304286	Q12951	E0XEN6	UPI000013EB16	NM_012188.4	tolerated(0.12)		2/2		hmmpanther:PTHR11829:SF180,hmmpanther:PTHR11829																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	170108397	170108397	C	A	1	0	0	0	0	1	0	0	0	5871	623	22	2		2	FOXI1	5	170108397	Missense_Mutation	SNP	C	C3L-02345_TP	13519086	170108397	11429862	73	9157	207	2									
FOXI1	0	.	GRCh38	chr5	170108398	170108398	+	Silent	SNP	C	C	A																															ccaggactgagccctgagccCagtgacaagacggggcagaa																								rs138032580		C3L-02345_TP	C3L-02345_NB	C	C																c.924C>A	p.=	p.P308P	ENST00000306268	2/2	95	76	19	154	154	0	strelka-varscan-mutect	FOXI1,synonymous_variant,p.=,ENST00000449804,NM_144769.2;FOXI1,synonymous_variant,p.=,ENST00000306268,NM_012188.4;	A	ENST00000306268	Transcript	synonymous_variant	985/1990	924/1137	308/378	P	ccC/ccA	rs138032580	1		1	FOXI1	HGNC	HGNC:3815	protein_coding	YES	CCDS4372.1	ENSP00000304286	Q12951	E0XEN6	UPI000013EB16	NM_012188.4			2/2		hmmpanther:PTHR11829:SF180,hmmpanther:PTHR11829																	LOW	1	SNV	1			1										PASS		rs138032580	.												A	2	1	31	170108398	170108398	C	A	1	0	0	0	0	0	0	0	1	5871	581	21	2		2	FOXI1	5	170108398	Silent	SNP	C	C3L-02345_TP	1	170108398	11429861	74	9158	207	2									
LCP2	0	.	GRCh38	chr5	170258084	170258084	+	Frame_Shift_Del	DEL	G	G	-																															gaggatgggagagggttcatGggacttggcttagtagatct																								novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1053delC	p.Met352Ter	p.M352*	ENST00000046794	16/21	233	179	54	248	248	0	sindel-varindel-pindel	LCP2,frameshift_variant,p.Met352Ter,ENST00000046794,NM_005565.3;LCP2,frameshift_variant,p.Met352Ter,ENST00000628092,;LCP2,frameshift_variant,p.Met147Ter,ENST00000521416,;LCP2,frameshift_variant,p.Met119Ter,ENST00000520344,;LCP2,non_coding_transcript_exon_variant,,ENST00000523369,;	-	ENST00000046794	Transcript	frameshift_variant	1669/4678	1053/1602	351/533	P/X	ccC/cc		1		-1	LCP2	HGNC	HGNC:6529	protein_coding	YES	CCDS47339.1	ENSP00000046794	Q13094		UPI000012E2AE	NM_005565.3			16/21		hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF1																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	31	170258084	170258084	G	-	1	0	1	0	1	0	0	0	0	8598	1335	47	0		0	LCP2	5	170258084	Frame_Shift_Del	DEL	G	C3L-02345_TP	149686	170258084	11280175	75	9159											
TSPAN17	0	.	GRCh38	chr5	176651783	176651783	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaacatctcagcgctgacAgatctgggaggccttgaccc	9	8	11	13	2	2	3	1	2	2	1	4	5	2	4	2	2	2	1	2	2	1	1	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.168A>T	p.=	p.T56T	ENST00000310032	3/9	186	146	40	243	243	0	strelka-varscan-mutect	TSPAN17,synonymous_variant,p.=,ENST00000310032,NM_012171.2;TSPAN17,synonymous_variant,p.=,ENST00000508164,NM_130465.4;TSPAN17,synonymous_variant,p.=,ENST00000515708,NM_001006616.2;TSPAN17,synonymous_variant,p.=,ENST00000503045,;TSPAN17,synonymous_variant,p.=,ENST00000504168,;TSPAN17,intron_variant,,ENST00000298564,;TSPAN17,intron_variant,,ENST00000507471,;TSPAN17,3_prime_UTR_variant,,ENST00000503030,;TSPAN17,non_coding_transcript_exon_variant,,ENST00000514705,;	T	ENST00000310032	Transcript	synonymous_variant	397/2550	168/999	56/332	T	acA/acT		1		1	TSPAN17	HGNC	HGNC:13594	protein_coding	YES	CCDS34298.1	ENSP00000309036		J3KNG2	UPI00004542F1	NM_012171.2			3/9		hmmpanther:PTHR19282:SF64,hmmpanther:PTHR19282,Pfam_domain:PF00335																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	31	176651783	176651783	A	T	1	0	0	0	0	0	0	0	1	17146	175	7	4		4	TSPAN17	5	176651783	Silent	SNP	A	C3L-02345_TP	6393699	176651783	4886476	76	9160											
TUBB2B	0	.	GRCh38	chr6	3226254	3226254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatccacgaggatggcccgaGgaacatatttgttacctgca	11	9	11	10	2	0	0	0	0	0	0	1	5	1	2	3	3	3	2	3	3	3	3	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.182C>T	p.Pro61Leu	p.P61L	ENST00000259818	3/4	325	251	74	408	408	0	strelka-varscan-mutect	TUBB2B,missense_variant,p.Pro61Leu,ENST00000259818,NM_178012.4;TUBB2B,non_coding_transcript_exon_variant,,ENST00000473006,;	A	ENST00000259818	Transcript	missense_variant	374/2020	182/1338	61/445	P/L	cCt/cTt		1		-1	TUBB2B	HGNC	HGNC:30829	protein_coding	YES	CCDS4485.1	ENSP00000259818	Q9BVA1		UPI0000024E6E	NM_178012.4	deleterious_low_confidence(0.01)		3/4		Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01161,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF138,SMART_domains:SM00864,Superfamily_domains:SSF52490																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	3226254	3226254	G	A	1	0	0	0	0	1	0	0	0	17266	1000	35	3		3	TUBB2B	6	3226254	Missense_Mutation	SNP	G	C3L-02345_TP		3226254	167579725	77	9161											
ZSCAN9	0	.	GRCh38	chr6	28232683	28232683	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcacagcaggatccctcAcatggagaagttggtgaaca	13	8	11	9	0	2	2	2	1	0	1	3	4	3	3	1	3	2	3	1	3	3	2	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.843A>T	p.=	p.S281S	ENST00000425468	5/5	315	263	52	350	350	0	strelka-varscan	ZSCAN9,synonymous_variant,p.=,ENST00000425468,NM_001199479.1;ZSCAN9,synonymous_variant,p.=,ENST00000252207,NM_006299.4;ZSCAN9,synonymous_variant,p.=,ENST00000531979,NM_001199480.1;ZSCAN9,synonymous_variant,p.=,ENST00000527844,;ZSCAN9,downstream_gene_variant,,ENST00000527436,;ZSCAN9,downstream_gene_variant,,ENST00000531981,;ZSCAN9,downstream_gene_variant,,ENST00000526391,;	T	ENST00000425468	Transcript	synonymous_variant	1008/1791	843/1338	281/445	S	tcA/tcT		1		1	ZSCAN9	HGNC	HGNC:12984	protein_coding	YES	CCDS56407.1	ENSP00000404074	O15535		UPI0000E09E19	NM_001199479.1			5/5		hmmpanther:PTHR23226:SF15,hmmpanther:PTHR23226																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	31	28232683	28232683	A	T	1	0	0	0	0	0	0	0	1	18840	146	6	4		4	ZSCAN9	6	28232683	Silent	SNP	A	C3L-02345_TP	25006429	28232683	142573296	78	9162											
OR10C1	0	.	GRCh38	chr6	29440032	29440032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggatgagtgcaaacacctCcatggtgactgagtttcttc	10	11	10	10	0	1	3	0	3	1	0	3	4	2	4	2	2	2	2	2	2	1	2	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.17C>T	p.Ser6Phe	p.S6F	ENST00000444197	1/1	89	68	21	104	104	0	strelka-varscan	OR10C1,missense_variant,p.Ser6Phe,ENST00000444197,NM_013941.3;OR10C1,missense_variant,p.Ser8Phe,ENST00000622521,;OR11A1,intron_variant,,ENST00000377149,;	T	ENST00000444197	Transcript	missense_variant	727/1649	17/939	6/312	S/F	tCc/tTc		1		1	OR10C1	HGNC	HGNC:8165	protein_coding	YES	CCDS34364.1	ENSP00000419119	Q96KK4	A0A126GV80	UPI000014068E	NM_013941.3	deleterious(0)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF191,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	31	29440032	29440032	C	T	1	0	0	0	0	1	0	0	0	10973	855	30	3		3	OR10C1	6	29440032	Missense_Mutation	SNP	C	C3L-02345_TP	1207349	29440032	141365947	79	9163											
OR2H2	0	.	GRCh38	chr6	29588330	29588330	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtctgccagcccctccActatgccaccatcatccacc	7	8	6	20	0	2	0	1	0	1	0	4	0	4	0	8	1	3	1	8	1	1	1	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.386A>T	p.His129Leu	p.H129L	ENST00000383640	1/1	134	100	34	129	128	1	strelka-varscan	OR2H2,missense_variant,p.His129Leu,ENST00000383640,NM_007160.3;GABBR1,intron_variant,,ENST00000355973,;	T	ENST00000383640	Transcript	missense_variant	876/1584	386/939	129/312	H/L	cAc/cTc		1		1	OR2H2	HGNC	HGNC:8253	protein_coding	YES	CCDS34365.1	ENSP00000373136	O95918		UPI00001404DC	NM_007160.3	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF199,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	31	29588330	29588330	A	T	1	0	0	0	0	1	0	0	0	11080	159	6	4		4	OR2H2	6	29588330	Missense_Mutation	SNP	A	C3L-02345_TP	148298	29588330	141217649	80	9164											
SKIV2L	0	.	GRCh38	chr6	31960527	31960527	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttatggggaaatccaacTcagtatcccttctggccagg	9	11	9	12	0	2	0	1	0	1	0	5	1	5	1	4	4	1	1	4	4	4	3	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.450T>A	p.=	p.T150T	ENST00000375394	5/28	221	181	40	242	241	1	strelka-varscan	SKIV2L,synonymous_variant,p.=,ENST00000375394,NM_006929.4;SKIV2L,intron_variant,,ENST00000628157,;NELFE,upstream_gene_variant,,ENST00000375429,NM_002904.5;NELFE,upstream_gene_variant,,ENST00000375425,;NELFE,upstream_gene_variant,,ENST00000444811,;NELFE,upstream_gene_variant,,ENST00000441998,;NELFE,upstream_gene_variant,,ENST00000454913,;NELFE,upstream_gene_variant,,ENST00000436289,;NELFE,upstream_gene_variant,,ENST00000426722,;NELFE,upstream_gene_variant,,ENST00000625905,;NELFE,upstream_gene_variant,,ENST00000408340,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000488648,;SKIV2L,synonymous_variant,p.=,ENST00000461073,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000465703,;SKIV2L,intron_variant,,ENST00000474839,;NELFE,upstream_gene_variant,,ENST00000488426,;NELFE,upstream_gene_variant,,ENST00000492185,;NELFE,upstream_gene_variant,,ENST00000481121,;SKIV2L,downstream_gene_variant,,ENST00000492900,;SKIV2L,upstream_gene_variant,,ENST00000466290,;NELFE,upstream_gene_variant,,ENST00000492539,;NELFE,upstream_gene_variant,,ENST00000491139,;NELFE,upstream_gene_variant,,ENST00000494956,;	A	ENST00000375394	Transcript	synonymous_variant	563/3894	450/3741	150/1246	T	acT/acA		1		1	SKIV2L	HGNC	HGNC:10898	protein_coding	YES	CCDS4731.1	ENSP00000364543	Q15477		UPI000045740B	NM_006929.4			5/28		PIRSF_domain:PIRSF005198																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	31	31960527	31960527	T	A	1	0	0	0	0	0	0	0	1	14622	1538	54	4		4	SKIV2L	6	31960527	Silent	SNP	T	C3L-02345_TP	2372197	31960527	138845452	81	9165											
IP6K3	0	.	GRCh38	chr6	33735314	33735314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaccgcttcatggccagcgGcagggattcatagaacctct	10	8	11	12	2	3	1	2	0	1	1	3	3	3	2	3	3	3	2	3	3	3	3	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.163C>A	p.Pro55Thr	p.P55T	ENST00000293756	2/6	147	106	41	116	116	0	strelka-varscan	IP6K3,missense_variant,p.Pro55Thr,ENST00000293756,NM_054111.4;IP6K3,missense_variant,p.Pro55Thr,ENST00000451316,NM_001142883.1;IP6K3,missense_variant,p.Pro55Thr,ENST00000634274,;	T	ENST00000293756	Transcript	missense_variant	490/2610	163/1233	55/410	P/T	Ccg/Acg		1		-1	IP6K3	HGNC	HGNC:17269	protein_coding	YES	CCDS34435.1	ENSP00000293756	Q96PC2	Q5TAQ4	UPI000013E117	NM_054111.4	deleterious(0)		2/6		hmmpanther:PTHR12400:SF40,hmmpanther:PTHR12400,Superfamily_domains:SSF56104																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	33735314	33735314	G	T	1	0	0	0	0	1	0	0	0	7693	1203	42	2		2	IP6K3	6	33735314	Missense_Mutation	SNP	G	C3L-02345_TP	1774787	33735314	137070665	82	9166											
TULP1	0	.	GRCh38	chr6	35506158	35506158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacctccacggggggagacgGggccctctcctccttctggg	4	7	14	16	2	2	1	0	0	2	1	5	2	4	1	5	6	0	0	5	6	0	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.844C>A	p.Pro282Thr	p.P282T	ENST00000229771	10/15	140	114	26	177	177	0	strelka-varscan	TULP1,missense_variant,p.Pro282Thr,ENST00000229771,NM_003322.4;TULP1,missense_variant,p.Pro280Thr,ENST00000614066,;TULP1,missense_variant,p.Pro229Thr,ENST00000322263,NM_001289395.1;TULP1,downstream_gene_variant,,ENST00000428978,;TULP1,non_coding_transcript_exon_variant,,ENST00000373892,;TULP1,upstream_gene_variant,,ENST00000495781,;TULP1,downstream_gene_variant,,ENST00000448446,;TULP1,upstream_gene_variant,,ENST00000496434,;	T	ENST00000229771	Transcript	missense_variant	924/2162	844/1629	282/542	P/T	Ccg/Acg		1		-1	TULP1	HGNC	HGNC:12423	protein_coding	YES	CCDS4807.1	ENSP00000229771	O00294		UPI000045742A	NM_003322.4	tolerated(0.1)		10/15		hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	35506158	35506158	G	T	1	0	0	0	0	1	0	0	0	17283	1232	43	2		2	TULP1	6	35506158	Missense_Mutation	SNP	G	C3L-02345_TP	1770844	35506158	135299821	83	9167											
PTCRA	0	.	GRCh38	chr6	42923112	42923112	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatggtggtggtctgcctGgtccttgatgttgcaccccc	4	12	13	12	0	1	2	0	1	1	1	2	2	2	2	4	4	2	2	4	4	0	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.144G>T	p.=	p.L48L	ENST00000616441	2/4	411	336	75	402	402	0	strelka-varscan	PTCRA,synonymous_variant,p.=,ENST00000616441,NM_001243168.1;PTCRA,synonymous_variant,p.=,ENST00000304672,NM_138296.2;PTCRA,intron_variant,,ENST00000441198,NM_001243169.1;PTCRA,intron_variant,,ENST00000446507,NM_001243170.1;	T	ENST00000616441	Transcript	synonymous_variant	225/1125	144/891	48/296	L	ctG/ctT		1		1	PTCRA	HGNC	HGNC:21290	protein_coding	YES	CCDS75457.1	ENSP00000477815		A0A087WTE9	UPI000016A2C4	NM_001243168.1			2/4		hmmpanther:PTHR37866,hmmpanther:PTHR37866:SF1,Gene3D:2.60.40.10,Pfam_domain:PF15028,Superfamily_domains:SSF48726																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	31	42923112	42923112	G	T	1	0	0	0	0	0	0	0	1	12888	1335	47	2		2	PTCRA	6	42923112	Silent	SNP	G	C3L-02345_TP	7416954	42923112	127882867	84	9168											
TINAG	0	.	GRCh38	chr6	54349720	54349720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcttattcctcatagactgGtatcccacgcatgctaccca	9	12	6	14	1	1	1	1	0	0	1	3	1	3	1	3	1	3	4	3	1	4	5	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.904G>A	p.Val302Ile	p.V302I	ENST00000259782	7/11	77	55	22	113	113	0	strelka-varscan	TINAG,missense_variant,p.Val302Ile,ENST00000259782,NM_014464.3;	A	ENST00000259782	Transcript	missense_variant	1000/1754	904/1431	302/476	V/I	Gta/Ata		1		1	TINAG	HGNC	HGNC:14599	protein_coding	YES	CCDS4955.1	ENSP00000259782	Q9UJW2		UPI000013D078	NM_014464.3	deleterious(0)		7/11		Gene3D:3.90.70.10,Pfam_domain:PF00112,hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF274,SMART_domains:SM00645,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	54349720	54349720	G	A	1	0	0	0	0	1	0	0	0	16362	1275	44	3		3	TINAG	6	54349720	Missense_Mutation	SNP	G	C3L-02345_TP	11426608	54349720	116456259	85	9169											
DST	0	.	GRCh38	chr6	56642464	56642464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttcacagatgacactgtcCctctgaactctgttggcaat	9	13	7	12	0	4	3	1	2	3	1	5	3	5	3	1	1	1	2	1	1	2	2	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1305G>T	p.Arg435Ser	p.R435S	ENST00000312431	13/95	386	296	90	408	406	2	strelka-varscan	DST,missense_variant,p.Arg395Ser,ENST00000361203,;DST,missense_variant,p.Arg395Ser,ENST00000421834,NM_183380.3;DST,missense_variant,p.Arg435Ser,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,missense_variant,p.Arg395Ser,ENST00000370788,;DST,missense_variant,p.Arg69Ser,ENST00000244364,NM_015548.4;DST,missense_variant,p.Arg69Ser,ENST00000439203,;DST,missense_variant,p.Arg69Ser,ENST00000370765,NM_001723.5;DST,missense_variant,p.Arg435Ser,ENST00000520645,;DST,missense_variant,p.Arg69Ser,ENST00000518935,;DST,missense_variant,p.Arg573Ser,ENST00000449297,;DST,non_coding_transcript_exon_variant,,ENST00000521104,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,non_coding_transcript_exon_variant,,ENST00000518828,;	A	ENST00000312431	Transcript	missense_variant	1431/17756	1305/16614	435/5537	R/S	agG/agT		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1	tolerated(0.1)		13/95		hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	31	56642464	56642464	C	A	1	0	0	0	0	1	0	0	0	4604	622	22	2		2	DST	6	56642464	Missense_Mutation	SNP	C	C3L-02345_TP	2292744	56642464	114163515	86	9170											
SNAP91	0	.	GRCh38	chr6	83594432	83594432	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggggtagctggtgcggcGgccccttcggatgctgcagg	3	9	19	10	3	0	0	0	0	0	0	1	1	0	1	2	7	4	5	2	7	1	3	rs764376228		C3L-02345_TP	C3L-02345_NB	G	G																c.1374C>T	p.=	p.A458A	ENST00000439399	17/30	103	92	11	141	141	0	strelka-varscan-mutect	SNAP91,synonymous_variant,p.=,ENST00000521485,;SNAP91,synonymous_variant,p.=,ENST00000439399,NM_014841.2;SNAP91,synonymous_variant,p.=,ENST00000369694,NM_001242792.1;SNAP91,synonymous_variant,p.=,ENST00000195649,NM_001256718.1;SNAP91,synonymous_variant,p.=,ENST00000521743,;SNAP91,synonymous_variant,p.=,ENST00000520302,NM_001256717.1,NM_001242793.1;SNAP91,intron_variant,,ENST00000520213,NM_001242794.1;SNAP91,intron_variant,,ENST00000521931,;SNAP91,intron_variant,,ENST00000369691,;SNAP91,upstream_gene_variant,,ENST00000523448,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;SNAP91,non_coding_transcript_exon_variant,,ENST00000523780,;	A	ENST00000439399	Transcript	synonymous_variant	1691/4452	1374/2724	458/907	A	gcC/gcT	rs764376228,COSM5100598,COSM5100599	1		-1	SNAP91	HGNC	HGNC:14986	protein_coding	YES	CCDS47455.1	ENSP00000400459	O60641		UPI0000124FB3	NM_014841.2			17/30		Low_complexity_(Seg):seg											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs764376228	.												A	2	1	31	83594432	83594432	G	A	1	0	0	0	0	0	0	0	1	15154	1103	39	1		1	SNAP91	6	83594432	Silent	SNP	G	C3L-02345_TP	26951968	83594432	87211547	87	9171											
TRDN	0	.	GRCh38	chr6	123464933	123464933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaggtgatgccggagtggGtctggaagcttgttctgtcg	5	11	18	7	2	2	1	0	1	2	0	3	3	2	3	1	5	2	3	1	5	1	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.904C>A	p.Pro302Thr	p.P302T	ENST00000334268	10/41	215	185	30	214	213	1	strelka-varscan	TRDN,missense_variant,p.Pro302Thr,ENST00000334268,NM_006073.3;TRDN,missense_variant,p.Pro282Thr,ENST00000628709,NM_001256020.1;RP11-532N4.2,intron_variant,,ENST00000587106,;RP11-532N4.2,intron_variant,,ENST00000625262,;RP11-532N4.2,intron_variant,,ENST00000629087,;RP11-532N4.2,intron_variant,,ENST00000418467,;RP11-532N4.2,intron_variant,,ENST00000589182,;RP11-532N4.2,intron_variant,,ENST00000628939,;RP11-532N4.2,intron_variant,,ENST00000434768,;RP11-532N4.2,intron_variant,,ENST00000625415,;RP11-532N4.2,intron_variant,,ENST00000427828,;RP11-532N4.2,downstream_gene_variant,,ENST00000587049,;	T	ENST00000334268	Transcript	missense_variant	1222/4770	904/2190	302/729	P/T	Ccc/Acc		1		-1	TRDN	HGNC	HGNC:12261	protein_coding	YES	CCDS55053.1	ENSP00000333984	Q13061		UPI0000D820CC	NM_006073.3	deleterious_low_confidence(0.01)		10/41		hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	123464933	123464933	G	T	1	0	0	0	0	1	0	0	0	16957	1261	44	2		2	TRDN	6	123464933	Missense_Mutation	SNP	G	C3L-02345_TP	39870501	123464933	47341046	88	9172											
ESR1	0	.	GRCh38	chr6	151944219	151944219	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaatgttgaaacacaagcgCcagagagatgatggggaggg	15	5	16	5	1	0	5	0	2	0	3	0	7	0	6	1	3	2	1	1	3	3	1	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.807C>A	p.=	p.R269R	ENST00000440973	6/10	184	125	59	281	279	2	strelka-varscan	ESR1,synonymous_variant,p.=,ENST00000440973,NM_001122742.1;ESR1,synonymous_variant,p.=,ENST00000206249,NM_001291230.1,NM_001122741.1,NM_001291241.1,NM_000125.3;ESR1,synonymous_variant,p.=,ENST00000443427,NM_001122740.1;ESR1,synonymous_variant,p.=,ENST00000427531,NM_001328100.1;ESR1,synonymous_variant,p.=,ENST00000338799,;ESR1,intron_variant,,ENST00000456483,;ESR1,intron_variant,,ENST00000406599,;ESR1,intron_variant,,ENST00000415488,;ESR1,non_coding_transcript_exon_variant,,ENST00000482101,;	A	ENST00000440973	Transcript	synonymous_variant	1177/6466	807/1788	269/595	R	cgC/cgA		1		1	ESR1	HGNC	HGNC:3467	protein_coding	YES	CCDS5234.1	ENSP00000405330	P03372	G4XH65	UPI000004A328	NM_001122742.1			6/10		hmmpanther:PTHR24084,PIRSF_domain:PIRSF500101,Gene3D:1.10.565.10,PIRSF_domain:PIRSF002527																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	31	151944219	151944219	C	A	1	0	0	0	0	0	0	0	1	5118	726	26	2		2	ESR1	6	151944219	Silent	SNP	C	C3L-02345_TP	28479286	151944219	18861760	89	9173											
GPER1	0	.	GRCh38	chr7	1092601	1092601	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggacgcagcctggggcCgctccctgcaagcagtcttt	6	7	13	15	3	1	0	0	0	1	0	2	1	2	1	3	3	4	4	3	3	1	1	rs374017708		C3L-02345_TP	C3L-02345_NB	C	C																c.873C>A	p.=	p.A291A	ENST00000397092	3/3	139	107	32	139	139	0	strelka-varscan-mutect	GPER1,synonymous_variant,p.=,ENST00000397092,NM_001039966.1;GPER1,synonymous_variant,p.=,ENST00000297469,NM_001505.2;GPER1,synonymous_variant,p.=,ENST00000397088,NM_001098201.1;GPER1,synonymous_variant,p.=,ENST00000617001,;GPER1,synonymous_variant,p.=,ENST00000401670,;C7orf50,intron_variant,,ENST00000397098,NM_001318252.1;C7orf50,intron_variant,,ENST00000357429,NM_001134395.1,NM_032350.5;C7orf50,intron_variant,,ENST00000397100,NM_001134396.1;C7orf50,intron_variant,,ENST00000491163,;GPER1,downstream_gene_variant,,ENST00000413368,;GPER1,upstream_gene_variant,,ENST00000619052,;C7orf50,intron_variant,,ENST00000488073,;	A	ENST00000397092	Transcript	synonymous_variant	1757/2971	873/1128	291/375	A	gcC/gcA	rs374017708	1		1	GPER1	HGNC	HGNC:4485	protein_coding	YES	CCDS5322.1	ENSP00000380281	Q99527	A0A024R849	UPI00000503F2	NM_001039966.1			3/3		PROSITE_profiles:PS50262,hmmpanther:PTHR24226:SF2,hmmpanther:PTHR24226,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	LOW		SNV	2			1										PASS		rs374017708	.												A	2	1	31	1092601	1092601	C	A	1	0	0	0	0	0	0	0	1	6509	639	23	1		1	GPER1	7	1092601	Silent	SNP	C	C3L-02345_TP		1092601	158253372	90	9174											
GRID2IP	0	.	GRCh38	chr7	6551167	6551167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgcggggccggatcctggGccggggccaccgtcgggagc	3	3	20	15	6	0	0	0	0	0	0	2	2	1	2	6	7	1	0	6	7	0	0	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.270C>T	p.=	p.G90G	ENST00000457091	1/22	71	56	15	65	65	0	strelka-varscan-mutect	GRID2IP,synonymous_variant,p.=,ENST00000457091,NM_001145118.1;	A	ENST00000457091	Transcript	synonymous_variant	270/3636	270/3636	90/1211	G	ggC/ggT		1		-1	GRID2IP	HGNC	HGNC:18464	protein_coding	YES	CCDS47537.1	ENSP00000397351	A4D2P6		UPI0001722D0B	NM_001145118.1			1/22		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	31	6551167	6551167	G	A	1	0	0	0	0	0	0	0	1	6653	1190	42	3		3	GRID2IP	7	6551167	Silent	SNP	G	C3L-02345_TP	5458566	6551167	152794806	91	9175											
MEOX2	0	.	GRCh38	chr7	15686184	15686184	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtggtgatggtggtggtgGtggtggtggtggtggtgccc	1	13	24	3	0	0	1	0	1	0	0	0	1	0	1	1	11	1	0	1	11	0	0	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.219C>T	p.=	p.H73H	ENST00000262041	1/3	141	107	34	164	164	0	strelka-varscan-mutect	MEOX2,synonymous_variant,p.=,ENST00000262041,NM_005924.4;MEOX2-AS1,upstream_gene_variant,,ENST00000442176,;AC005550.5,downstream_gene_variant,,ENST00000438923,;AC005550.3,downstream_gene_variant,,ENST00000451240,;	A	ENST00000262041	Transcript	synonymous_variant	629/2500	219/915	73/304	H	caC/caT		1		-1	MEOX2	HGNC	HGNC:7014	protein_coding	YES	CCDS34605.1	ENSP00000262041	P50222		UPI000013D247	NM_005924.4			1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24328,hmmpanther:PTHR24328:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	31	15686184	15686184	G	A	1	0	0	0	0	0	0	0	1	9419	1252	44	3		3	MEOX2	7	15686184	Silent	SNP	G	C3L-02345_TP	9135017	15686184	143659789	92	9176											
TMEM196	0	.	GRCh38	chr7	19772657	19772657	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctatctccagcacggagaGcaccaagaggctcccaataa	13	5	8	15	1	1	2	0	0	1	2	3	3	2	2	4	2	2	3	4	2	4	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.40C>G	p.Leu14Val	p.L14V	ENST00000405764	1/4	89	72	17	91	91	0	strelka-varscan-mutect	TMEM196,missense_variant,p.Leu14Val,ENST00000405844,;TMEM196,missense_variant,p.Leu14Val,ENST00000405764,NM_152774.3;TMEM196,intron_variant,,ENST00000422233,;TMEM196,intron_variant,,ENST00000433641,;TMEM196,intron_variant,,ENST00000493519,;	C	ENST00000405764	Transcript	missense_variant	737/3975	40/519	14/172	L/V	Ctc/Gtc		1		-1	TMEM196	HGNC	HGNC:22431	protein_coding	YES	CCDS34607.2	ENSP00000384234	Q5HYL7		UPI00005A9078	NM_152774.3	deleterious_low_confidence(0.03)		1/4		hmmpanther:PTHR28681,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1382694040	.												C	3	2	31	19772657	19772657	G	C	1	0	0	0	0	1	0	0	0	16558	971	34	4		4	TMEM196	7	19772657	Missense_Mutation	SNP	G	C3L-02345_TP	4086473	19772657	139573316	93	9177											
SCRN1	0	.	GRCh38	chr7	29936609	29936609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacggagagcttctattCtgcggcaggacagacactcc	10	8	11	12	2	2	2	0	0	2	2	3	4	3	3	1	3	3	3	1	3	1	3			C3L-02345_TP	C3L-02345_NB	C	C																c.912G>T	p.Gln304His	p.Q304H	ENST00000434476	6/8	57	51	6	55	55	0	strelka-varscan	SCRN1,missense_variant,p.Gln284His,ENST00000426154,NM_001145513.1;SCRN1,missense_variant,p.Gln284His,ENST00000242059,NM_014766.4;SCRN1,missense_variant,p.Gln284His,ENST00000409497,;SCRN1,missense_variant,p.Gln216His,ENST00000425819,NM_001145515.1;SCRN1,missense_variant,p.Gln304His,ENST00000434476,NM_001145514.1;SCRN1,downstream_gene_variant,,ENST00000421434,;	A	ENST00000434476	Transcript	missense_variant	961/1454	912/1305	304/434	Q/H	caG/caT	COSM1089035,COSM1596974	1		-1	SCRN1	HGNC	HGNC:22192	protein_coding	YES	CCDS47567.1	ENSP00000388942	Q12765		UPI000194EC2F	NM_001145514.1	deleterious(0.03)		6/8		hmmpanther:PTHR12994:SF7,hmmpanther:PTHR12994											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												A	3	1	31	29936609	29936609	C	A	1	0	0	0	0	1	0	0	0	14208	912	32	2		2	SCRN1	7	29936609	Missense_Mutation	SNP	C	C3L-02345_TP	10163952	29936609	129409364	94	9178											
DPY19L1	0	.	GRCh38	chr7	35011372	35011372	+	Frame_Shift_Del	DEL	C	C	-																															gagtccttctcctctggtaaCcgtccaacatatcttggttt																								rs189464206		C3L-02345_TP	C3L-02345_NB	C	C																c.409delG	p.Val137LeufsTer26	p.V137Lfs*26	ENST00000310974	5/22	267	206	61	275	275	0	sindel-varindel-pindel	DPY19L1,frameshift_variant,p.Val210LeufsTer26,ENST00000638088,;DPY19L1,frameshift_variant,p.Val137LeufsTer26,ENST00000310974,NM_015283.1;DPY19L1,non_coding_transcript_exon_variant,,ENST00000481923,;	-	ENST00000310974	Transcript	frameshift_variant	554/4870	409/2028	137/675	V/X	Gtt/tt	rs189464206	1		-1	DPY19L1	HGNC	HGNC:22205	protein_coding	YES	CCDS43567.1	ENSP00000308695	Q2PZI1		UPI000067CB92	NM_015283.1			5/22		hmmpanther:PTHR31488:SF5,hmmpanther:PTHR31488,Pfam_domain:PF10034																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	31	35011372	35011372	C	-	1	0	1	0	1	0	0	0	0	4555	507	18	0		0	DPY19L1	7	35011372	Frame_Shift_Del	DEL	C	C3L-02345_TP	5074763	35011372	124334601	95	9179											
PKD1L1	0	.	GRCh38	chr7	47931999	47931999	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacagccgcctgtgatggaaCctggggccaccactgctcca	8	6	11	16	1	0	1	0	1	0	0	1	2	1	2	6	3	3	1	6	3	1	0	rs759739549		C3L-02345_TP	C3L-02345_NB	C	C																c.456G>A	p.=	p.R152R	ENST00000289672	5/57	148	128	20	170	169	1	strelka-varscan	PKD1L1,synonymous_variant,p.=,ENST00000289672,NM_138295.3;HUS1,intron_variant,,ENST00000436444,;	T	ENST00000289672	Transcript	synonymous_variant	507/9092	456/8550	152/2849	R	agG/agA	rs759739549	1		-1	PKD1L1	HGNC	HGNC:18053	protein_coding	YES	CCDS34633.1	ENSP00000289672	Q8TDX9		UPI0000130FA9	NM_138295.3			5/57		hmmpanther:PTHR10877:SF145,hmmpanther:PTHR10877																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	31	47931999	47931999	C	T	1	0	0	0	0	0	0	0	1	12060	506	18	3		3	PKD1L1	7	47931999	Silent	SNP	C	C3L-02345_TP	12920627	47931999	111413974	96	9180											
ABCA13	0	.	GRCh38	chr7	48313099	48313099	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagcaaatggcttgctCaactccttgctggatatagt	10	13	9	9	0	2	1	1	1	1	0	3	2	3	2	1	2	4	4	1	2	5	4	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.9549C>A	p.=	p.L3183L	ENST00000435803	25/62	68	49	19	105	105	0	strelka-varscan	ABCA13,synonymous_variant,p.=,ENST00000435803,NM_152701.4;ABCA13,synonymous_variant,p.=,ENST00000544596,;ABCA13,non_coding_transcript_exon_variant,,ENST00000611776,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;	A	ENST00000435803	Transcript	synonymous_variant	9573/17184	9549/15177	3183/5058	L	ctC/ctA		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4			25/62																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	31	48313099	48313099	C	A	1	0	0	0	0	0	0	0	1	35	813	29	2		2	ABCA13	7	48313099	Silent	SNP	C	C3L-02345_TP	381100	48313099	111032874	97	9181											
ABCA13	0	.	GRCh38	chr7	48516776	48516776	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagaatcttttccagttcGgacgtggctttcatttccta	7	16	7	11	2	2	1	1	0	1	1	6	2	5	2	3	2	0	2	3	2	2	6	rs371594909		C3L-02345_TP	C3L-02345_NB	G	G																c.13692G>T	p.=	p.S4564S	ENST00000435803	52/62	189	155	34	178	178	0	strelka-varscan	ABCA13,synonymous_variant,p.=,ENST00000435803,NM_152701.4;ABCA13,synonymous_variant,p.=,ENST00000544596,;ABCA13,synonymous_variant,p.=,ENST00000411975,;ABCA13,synonymous_variant,p.=,ENST00000435451,;ABCA13,non_coding_transcript_exon_variant,,ENST00000611776,;ABCA13,synonymous_variant,p.=,ENST00000453246,;	T	ENST00000435803	Transcript	synonymous_variant	13716/17184	13692/15177	4564/5058	S	tcG/tcT	rs371594909,COSM3639400,COSM3639401	1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4			52/62		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Pfam_domain:PF12698											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		.	.												T	2	4	31	48516776	48516776	G	T	1	0	0	0	0	0	0	0	1	35	1103	39	1		1	ABCA13	7	48516776	Silent	SNP	G	C3L-02345_TP	203677	48516776	110829197	98	9182											
PCLO	0	.	GRCh38	chr7	82955497	82955497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtctttggcctttcccttCttctctgagctcgaagttca	4	17	8	12	1	4	1	1	1	3	0	7	2	5	1	2	1	1	2	2	1	1	5	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.5456G>A	p.Arg1819Lys	p.R1819K	ENST00000333891	5/25	140	110	30	160	160	0	strelka-varscan	PCLO,missense_variant,p.Arg1819Lys,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Arg1819Lys,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	T	ENST00000333891	Transcript	missense_variant	5794/20329	5456/15429	1819/5142	R/K	aGa/aAa		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	deleterious(0.03)		5/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	31	82955497	82955497	C	T	1	0	0	0	0	1	0	0	0	11671	913	32	3		3	PCLO	7	82955497	Missense_Mutation	SNP	C	C3L-02345_TP	34438721	82955497	76390476	99	9183											
PEG10	0	.	GRCh38	chr7	94664510	94664510	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaaagtcttcgccggcGggaaactccccggccccgct	6	6	11	18	5	2	0	1	0	1	0	4	1	3	1	6	3	1	1	6	3	2	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1182G>T	p.=	p.A394A	ENST00000488574	2/2	161	126	35	200	198	2	strelka-varscan	PEG10,missense_variant,p.Gly352Trp,ENST00000612941,;PEG10,missense_variant,p.Gly318Trp,ENST00000617526,;PEG10,missense_variant,p.Gly394Trp,ENST00000612748,;PEG10,synonymous_variant,p.=,ENST00000482108,NM_015068.3,NM_001184961.1,NM_001172437.2,NM_001040152.1;PEG10,synonymous_variant,p.=,ENST00000615790,NM_001184962.1;PEG10,synonymous_variant,p.=,ENST00000488574,NM_001172438.2;PEG10,downstream_gene_variant,,ENST00000613043,;PEG10,intron_variant,,ENST00000493935,;PEG10,upstream_gene_variant,,ENST00000465184,;	T	ENST00000488574	Transcript	synonymous_variant	1399/2587	1182/1206	394/401	A	gcG/gcT		1		1	PEG10	HGNC	HGNC:14005	protein_coding	YES	CCDS75636.1	ENSP00000418944		B4DSP0	UPI0000037665	NM_001172438.2			2/2		hmmpanther:PTHR15503:SF10,hmmpanther:PTHR15503																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	31	94664510	94664510	G	T	1	0	0	0	0	0	0	0	1	11807	1130	39	1		1	PEG10	7	94664510	Silent	SNP	G	C3L-02345_TP	11709013	94664510	64681463	100	9184											
SLC12A9	0	.	GRCh38	chr7	100860225	100860225	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtactttattcttggggccTggtgcaggtgagccttcttc	4	16	12	9	0	2	1	0	1	2	0	3	1	2	1	2	4	3	2	2	4	2	7	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.1211T>A	p.Leu404Gln	p.L404Q	ENST00000354161	9/14	131	117	14	161	161	0	varscan-mutect	SLC12A9,missense_variant,p.Leu404Gln,ENST00000354161,NM_020246.3;SLC12A9,missense_variant,p.Leu404Gln,ENST00000540482,NM_001267812.1;SLC12A9,missense_variant,p.Leu315Gln,ENST00000415287,NM_001267814.1;SLC12A9,missense_variant,p.Leu140Gln,ENST00000418037,;SLC12A9,missense_variant,p.Leu212Gln,ENST00000416675,;SLC12A9,downstream_gene_variant,,ENST00000434158,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000475623,;SLC12A9,upstream_gene_variant,,ENST00000482184,;SLC12A9,downstream_gene_variant,,ENST00000461016,;SLC12A9,3_prime_UTR_variant,,ENST00000448342,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000487651,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000467972,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000475687,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000497958,;SLC12A9,downstream_gene_variant,,ENST00000462106,;	A	ENST00000354161	Transcript	missense_variant	1336/3273	1211/2745	404/914	L/Q	cTg/cAg		1		1	SLC12A9	HGNC	HGNC:17435	protein_coding	YES	CCDS5707.1	ENSP00000275730	Q9BXP2		UPI000006CD28	NM_020246.3	deleterious(0)		9/14		hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF52,Pfam_domain:PF00324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	100860225	100860225	T	A	1	0	0	0	0	1	0	0	0	14655	1580	55	4		4	SLC12A9	7	100860225	Missense_Mutation	SNP	T	C3L-02345_TP	6195715	100860225	58485748	101	9185											
MUC17	0	.	GRCh38	chr7	101036549	101036549	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaatcagcaccctttcAacaactcccgttgacaacag	12	9	5	15	1	3	1	2	1	1	0	4	1	4	1	2	0	5	3	2	0	4	2	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.5133A>T	p.=	p.S1711S	ENST00000306151	3/13	86	64	22	103	103	0	strelka-varscan-mutect	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,synonymous_variant,p.=,ENST00000379439,;	T	ENST00000306151	Transcript	synonymous_variant	5197/14247	5133/13482	1711/4493	S	tcA/tcT		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1			3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	31	101036549	101036549	A	T	1	0	0	0	0	0	0	0	1	9973	117	5	4		4	MUC17	7	101036549	Silent	SNP	A	C3L-02345_TP	176324	101036549	58309424	102	9186											
CCDC136	0	.	GRCh38	chr7	128814758	128814758	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagctgcagtgctgccagGaggagctccgccagctcagg	7	5	16	13	1	1	0	1	0	0	0	2	2	2	2	3	4	6	6	3	4	0	0	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.2884G>T	p.Glu962Ter	p.E962*	ENST00000297788	15/18	178	130	48	199	199	0	strelka-varscan-mutect	CCDC136,stop_gained,p.Glu962Ter,ENST00000297788,NM_022742.4;CCDC136,stop_gained,p.Glu839Ter,ENST00000494552,;CCDC136,intron_variant,,ENST00000487361,;CCDC136,intron_variant,,ENST00000464672,;CCDC136,intron_variant,,ENST00000464832,;CCDC136,intron_variant,,ENST00000378685,NM_001201372.1;CCDC136,non_coding_transcript_exon_variant,,ENST00000471729,;CCDC136,non_coding_transcript_exon_variant,,ENST00000480137,;CCDC136,intron_variant,,ENST00000528772,;CCDC136,downstream_gene_variant,,ENST00000460941,;	T	ENST00000297788	Transcript	stop_gained	3251/4169	2884/3465	962/1154	E/*	Gag/Tag		1		1	CCDC136	HGNC	HGNC:22225	protein_coding	YES	CCDS47704.1	ENSP00000297788	Q96JN2		UPI0000E445DE	NM_022742.4			15/18		Low_complexity_(Seg):seg,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF26,Coiled-coils_(Ncoils):Coil																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	31	128814758	128814758	G	T	1	0	0	0	0	0	1	0	0	2459	1175	41	2		2	CCDC136	7	128814758	Nonsense_Mutation	SNP	G	C3L-02345_TP	27778209	128814758	30531215	103	9187											
TSGA13	0	.	GRCh38	chr7	130671693	130671693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatctctctcatggactggaGcaaaggtgagctgagggtac	10	10	13	8	0	2	2	1	2	2	0	4	4	2	4	0	4	3	3	0	4	3	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.626C>A	p.Ala209Asp	p.A209D	ENST00000456951	8/9	158	150	8	167	167	0	strelka-mutect	TSGA13,missense_variant,p.Ala209Asp,ENST00000456951,NM_001304968.1;TSGA13,missense_variant,p.Ala209Asp,ENST00000356588,NM_052933.3;COPG2,upstream_gene_variant,,ENST00000425248,NM_012133.5;COPG2,upstream_gene_variant,,ENST00000330992,NM_001290033.1;	T	ENST00000456951	Transcript	missense_variant	1478/2046	626/828	209/275	A/D	gCt/gAt		1		-1	TSGA13	HGNC	HGNC:12369	protein_coding	YES	CCDS5824.1	ENSP00000406047	Q96PP4	A0A024R769	UPI0000073CFB	NM_001304968.1	deleterious(0.04)		8/9		Pfam_domain:PF14994,hmmpanther:PTHR37352																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	31	130671693	130671693	G	T	1	0	0	0	0	1	0	0	0	17125	971	34	2		2	TSGA13	7	130671693	Missense_Mutation	SNP	G	C3L-02345_TP	1856935	130671693	28674280	104	9188											
MRPS33	0	.	GRCh38	chr7	141010523	141010523	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggccaagggcagttcactAaacagtttcaccactttcat	11	12	7	11	0	3	0	3	0	0	0	3	0	3	0	2	2	1	3	2	2	3	5	rs761120401		C3L-02345_TP	C3L-02345_NB	A	A																c.111T>C	p.=	p.F37F	ENST00000324787	2/3	457	354	103	499	499	0	strelka-varscan-mutect	MRPS33,synonymous_variant,p.=,ENST00000324787,NM_053035.2;MRPS33,synonymous_variant,p.=,ENST00000393008,NM_016071.3;MRPS33,synonymous_variant,p.=,ENST00000469351,;MRPS33,synonymous_variant,p.=,ENST00000496958,;MRPS33,synonymous_variant,p.=,ENST00000467334,;MRPS33,intron_variant,,ENST00000484502,;MRPS33,upstream_gene_variant,,ENST00000472343,;MRPS33,non_coding_transcript_exon_variant,,ENST00000496641,;MRPS33,non_coding_transcript_exon_variant,,ENST00000485202,;	G	ENST00000324787	Transcript	synonymous_variant	211/4241	111/321	37/106	F	ttT/ttC	rs761120401	1		-1	MRPS33	HGNC	HGNC:16634	protein_coding	YES	CCDS5864.1	ENSP00000320567	Q9Y291	A4D1T3	UPI00001352B2	NM_053035.2			2/3		Pfam_domain:PF08293,hmmpanther:PTHR13362,hmmpanther:PTHR13362:SF2																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	31	141010523	141010523	A	G	1	0	0	0	0	0	0	0	1	9819	359	13	5		5	MRPS33	7	141010523	Silent	SNP	A	C3L-02345_TP	10338830	141010523	18335450	105	9189											
GIMAP2	0	.	GRCh38	chr7	150693260	150693260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagttaatgatatttttgaGaacagttattagactagaac	17	14	7	3	0	0	4	0	2	0	3	0	5	0	4	0	0	2	2	0	0	8	7	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.974G>T	p.Arg325Ile	p.R325I	ENST00000223293	3/3	76	58	18	82	82	0	strelka-varscan-mutect	GIMAP2,missense_variant,p.Arg325Ile,ENST00000223293,NM_015660.2;GIMAP2,downstream_gene_variant,,ENST00000474605,;	T	ENST00000223293	Transcript	missense_variant	1068/1449	974/1014	325/337	R/I	aGa/aTa		1		1	GIMAP2	HGNC	HGNC:21789	protein_coding	YES	CCDS5905.1	ENSP00000223293	Q9UG22	A0A090N8H4	UPI000006D114	NM_015660.2	deleterious_low_confidence(0)		3/3		hmmpanther:PTHR10903:SF7,hmmpanther:PTHR10903																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	150693260	150693260	G	T	1	0	0	0	0	1	0	0	0	6260	942	33	2		2	GIMAP2	7	150693260	Missense_Mutation	SNP	G	C3L-02345_TP	9682737	150693260	8652713	106	9190											
HTR5A	0	.	GRCh38	chr7	155071146	155071146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaacctggtggcatccatgGccgtctcggatgtcctggtg	6	10	13	12	2	1	0	0	0	1	0	4	1	3	1	4	5	1	1	4	5	1	0	rs759496883		C3L-02345_TP	C3L-02345_NB	G	G																c.247G>T	p.Ala83Ser	p.A83S	ENST00000287907	1/2	120	84	36	128	127	1	strelka-varscan-mutect	HTR5A,missense_variant,p.Ala83Ser,ENST00000287907,NM_024012.3;HTR5A-AS1,non_coding_transcript_exon_variant,,ENST00000395731,;HTR5A-AS1,non_coding_transcript_exon_variant,,ENST00000493904,;RP11-5C23.4,upstream_gene_variant,,ENST00000637588,;	T	ENST00000287907	Transcript	missense_variant	823/2912	247/1074	83/357	A/S	Gcc/Tcc	rs759496883	1		1	HTR5A	HGNC	HGNC:5300	protein_coding	YES	CCDS5936.1	ENSP00000287907	P47898	A4D2N2	UPI000004477E	NM_024012.3	deleterious(0)		1/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF108,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs759496883	.												T	3	4	31	155071146	155071146	G	T	1	0	0	0	0	1	0	0	0	7346	1203	42	2		2	HTR5A	7	155071146	Missense_Mutation	SNP	G	C3L-02345_TP	4377886	155071146	4274827	107	9191											
EN2	0	.	GRCh38	chr7	155462516	155462516	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcggcgccagagcctGgcgcaggagctgagcctcaa	9	3	16	13	3	1	2	1	1	0	1	1	4	1	3	3	3	5	3	3	3	1	0	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.831G>T	p.=	p.L277L	ENST00000297375	2/2	335	261	74	333	333	0	strelka-varscan-mutect	EN2,synonymous_variant,p.=,ENST00000297375,NM_001427.3;	T	ENST00000297375	Transcript	synonymous_variant	1080/3395	831/1002	277/333	L	ctG/ctT		1		1	EN2	HGNC	HGNC:3343	protein_coding	YES	CCDS5940.1	ENSP00000297375	P19622		UPI000012CA05	NM_001427.3			2/2		PROSITE_profiles:PS50071,hmmpanther:PTHR24341:SF5,hmmpanther:PTHR24341,PROSITE_patterns:PS00027,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	31	155462516	155462516	G	T	1	0	0	0	0	0	0	0	1	4952	1335	47	2		2	EN2	7	155462516	Silent	SNP	G	C3L-02345_TP	391370	155462516	3883457	108	9192											
USP17L4	0	.	GRCh38	chr8	7338293	7338293	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggcagggaaccaagagcCcttggcgctgaagacacaga	14	3	14	10	1	0	5	0	1	0	4	0	6	0	6	2	3	2	2	2	3	3	1	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1179C>A	p.=	p.A393A	ENST00000526929	1/1	101	58	43	119	119	0	strelka-varscan-mutect	USP17L4,synonymous_variant,p.=,ENST00000526929,NM_001256874.1;USP17L1,downstream_gene_variant,,ENST00000529559,NM_001256873.1;FAM66B,intron_variant,,ENST00000606573,;FAM66B,intron_variant,,ENST00000529456,;AC130360.8,upstream_gene_variant,,ENST00000425489,;	A	ENST00000526929	Transcript	synonymous_variant	1179/1593	1179/1593	393/530	A	gcC/gcA		1		1	USP17L4	HGNC	HGNC:37176	protein_coding	YES	CCDS78299.1	ENSP00000485243	A6NCW7		UPI0000251F84	NM_001256874.1			1/1		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF511																	LOW		SNV				1										PASS		.	.												A	2	1	31	7338293	7338293	C	A	1	0	0	0	0	0	0	0	1	17588	610	22	2		2	USP17L4	8	7338293	Silent	SNP	C	C3L-02345_TP		7338293	137800343	109	9193											
SPIDR	0	.	GRCh38	chr8	47293917	47293917	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagtgacagggcagaggctAgtgactgtgatgaatttgaa	13	9	14	5	0	0	6	0	5	0	1	0	6	0	6	0	2	0	2	0	2	3	2	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.412A>G	p.Ser138Gly	p.S138G	ENST00000297423	5/20	195	144	51	219	219	0	strelka-varscan-mutect	SPIDR,missense_variant,p.Ser138Gly,ENST00000297423,NM_001080394.3;SPIDR,missense_variant,p.Ser68Gly,ENST00000541342,NM_001282916.1;SPIDR,missense_variant,p.Ser78Gly,ENST00000518074,NM_001282919.1;SPIDR,intron_variant,,ENST00000524006,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521214,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521550,;SPIDR,non_coding_transcript_exon_variant,,ENST00000522900,;SPIDR,missense_variant,p.Ser138Gly,ENST00000524126,;SPIDR,missense_variant,p.Ser138Gly,ENST00000519661,;SPIDR,missense_variant,p.Ser138Gly,ENST00000524033,;SPIDR,3_prime_UTR_variant,,ENST00000522117,;SPIDR,non_coding_transcript_exon_variant,,ENST00000524141,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521798,;SPIDR,intron_variant,,ENST00000517824,;SPIDR,intron_variant,,ENST00000523814,;SPIDR,intron_variant,,ENST00000522222,;	G	ENST00000297423	Transcript	missense_variant	796/3988	412/2748	138/915	S/G	Agt/Ggt		1		1	SPIDR	HGNC	HGNC:28971	protein_coding	YES	CCDS43737.1	ENSP00000297423	Q14159		UPI0000253B92	NM_001080394.3	tolerated(0.59)		5/20		Pfam_domain:PF14950,hmmpanther:PTHR34347,hmmpanther:PTHR34347:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	31	47293917	47293917	A	G	1	0	0	0	0	1	0	0	0	15404	420	15	5		5	SPIDR	8	47293917	Missense_Mutation	SNP	A	C3L-02345_TP	39955624	47293917	97844719	110	9194											
VCPIP1	0	.	GRCh38	chr8	66665460	66665460	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttgtcagtcctcagctgtCcatgagtactttttgccagg	6	16	9	10	0	2	1	2	1	0	0	4	1	4	1	3	1	3	2	3	1	1	5	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1499G>T	p.Gly500Val	p.G500V	ENST00000310421	1/3	138	107	31	168	168	0	strelka-varscan-mutect	VCPIP1,missense_variant,p.Gly500Val,ENST00000310421,NM_025054.4;C8orf44-SGK3,upstream_gene_variant,,ENST00000519289,NM_001204173.1;C8orf44,upstream_gene_variant,,ENST00000519561,NM_019607.2;C8orf44,upstream_gene_variant,,ENST00000521889,;C8orf44-SGK3,upstream_gene_variant,,ENST00000520044,;C8orf44,upstream_gene_variant,,ENST00000521113,;	A	ENST00000310421	Transcript	missense_variant	1758/9942	1499/3669	500/1222	G/V	gGa/gTa		1		-1	VCPIP1	HGNC	HGNC:30897	protein_coding	YES	CCDS6192.1	ENSP00000309031	Q96JH7		UPI00001D3EF3	NM_025054.4	deleterious(0.05)		1/3		hmmpanther:PTHR14843,hmmpanther:PTHR14843:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	66665460	66665460	C	A	1	0	0	0	0	1	0	0	0	17686	855	30	2		2	VCPIP1	8	66665460	Missense_Mutation	SNP	C	C3L-02345_TP	19371543	66665460	78473176	111	9195											
RALYL	0	.	GRCh38	chr8	84529368	84529368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtcaccaataagaatgaccCcaagtccatcaactcccgtg	13	7	6	15	2	2	2	2	1	0	1	4	2	4	2	5	0	1	0	5	0	5	1	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.86C>A	p.Pro29His	p.P29H	ENST00000517638	2/9	300	223	77	347	346	1	strelka-varscan-mutect	RALYL,missense_variant,p.Pro16His,ENST00000521268,NM_173848.5;RALYL,missense_variant,p.Pro16His,ENST00000518566,NM_001287243.1;RALYL,missense_variant,p.Pro16His,ENST00000522455,NM_001100392.1;RALYL,missense_variant,p.Pro29His,ENST00000517638,NM_001100391.1;RALYL,missense_variant,p.Pro16His,ENST00000521695,NM_001100393.1;RALYL,missense_variant,p.Pro16His,ENST00000522613,;RALYL,missense_variant,p.Pro16His,ENST00000517988,;RALYL,missense_variant,p.Pro16His,ENST00000522647,;	A	ENST00000517638	Transcript	missense_variant	210/1972	86/915	29/304	P/H	cCc/cAc		1		1	RALYL	HGNC	HGNC:27036	protein_coding	YES	CCDS55252.1	ENSP00000430128	Q86SE5		UPI00002108E6	NM_001100391.1	deleterious(0.01)		2/9		hmmpanther:PTHR13968:SF21,hmmpanther:PTHR13968,Gene3D:3.30.70.330,PIRSF_domain:PIRSF037992,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	84529368	84529368	C	A	1	0	0	0	0	1	0	0	0	13179	623	22	2		2	RALYL	8	84529368	Missense_Mutation	SNP	C	C3L-02345_TP	17863908	84529368	60609268	112	9196											
VPS13B	0	.	GRCh38	chr8	99121433	99121433	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttattgcacaaaggcaacGgtgactttcaaagtaggtct	12	13	9	7	1	2	1	1	1	1	0	2	1	2	1	0	3	2	3	0	3	5	5			C3L-02345_TP	C3L-02345_NB	G	G																c.1194G>T	p.=	p.T398T	ENST00000358544	8/62	125	98	27	127	127	0	strelka-varscan-mutect	VPS13B,synonymous_variant,p.=,ENST00000358544,NM_017890.4;VPS13B,synonymous_variant,p.=,ENST00000357162,NM_152564.4;VPS13B,synonymous_variant,p.=,ENST00000355155,NM_015243.2;VPS13B,synonymous_variant,p.=,ENST00000441350,NM_181661.2;CTD-2340D6.1,downstream_gene_variant,,ENST00000523226,;VPS13B,downstream_gene_variant,,ENST00000524330,;VPS13B,synonymous_variant,p.=,ENST00000496144,;	T	ENST00000358544	Transcript	synonymous_variant	1305/14094	1194/12069	398/4022	T	acG/acT	COSM5004317,COSM5004318,COSM5004319,COSM5004320	1		1	VPS13B	HGNC	HGNC:2183	protein_coding	YES	CCDS6280.1	ENSP00000351346	Q7Z7G8		UPI00001D2D35	NM_017890.4			8/62		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0											1,1,1,1						LOW	1	SNV	1		1,1,1,1	1										PASS		.	.												T	2	4	31	99121433	99121433	G	T	1	0	0	0	0	0	0	0	1	17737	1103	39	1		1	VPS13B	8	99121433	Silent	SNP	G	C3L-02345_TP	14592065	99121433	46017203	113	9197											
CSMD3	0	.	GRCh38	chr8	112921636	112921636	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaacattacctttacacaCaggcctgtgatcactccaag	14	10	5	12	0	1	1	1	1	0	0	2	1	2	1	3	1	3	0	3	1	5	4			C3L-02345_TP	C3L-02345_NB	C	C																c.1624G>T	p.Val542Leu	p.V542L	ENST00000297405	10/71	358	292	66	379	379	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Val542Leu,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Val502Leu,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Val438Leu,ENST00000455883,NM_052900.2;	A	ENST00000297405	Transcript	missense_variant	1869/13212	1624/11124	542/3707	V/L	Gtg/Ttg	COSM5666177,COSM5666178	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	tolerated(0.16)		10/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1407449531	.												A	3	1	31	112921636	112921636	C	A	1	0	0	0	0	1	0	0	0	3747	478	17	2		2	CSMD3	8	112921636	Missense_Mutation	SNP	C	C3L-02345_TP	13800203	112921636	32217000	114	9198											
DEPTOR	0	.	GRCh38	chr8	119965230	119965230	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccctttttttcttcccAggctgatgagccctgaaaac	7	16	6	12	0	1	3	0	3	1	0	3	3	3	3	3	1	2	1	3	1	2	6	rs764419762		C3L-02345_TP	C3L-02345_NB	A	A																c.426-2A>T		p.X142_splice	ENST00000286234		89	83	6	112	112	0	varscan-mutect	DEPTOR,splice_acceptor_variant,,ENST00000286234,NM_022783.3;DEPTOR,splice_acceptor_variant,,ENST00000523492,NM_001283012.1;DEPTOR,upstream_gene_variant,,ENST00000518057,;	T	ENST00000286234	Transcript	splice_acceptor_variant	-/2569	426/1230	142/409			rs764419762	1		1	DEPTOR	HGNC	HGNC:22953	protein_coding	YES	CCDS6331.1	ENSP00000286234	Q8TB45		UPI000013DE38	NM_022783.3				3/8																		HIGH	1	SNV	1			1										PASS		rs764419762	.												T	5	4	31	119965230	119965230	A	T	1	0	0	0	0	0	0	1	0	4250	202	7	4		4	DEPTOR	8	119965230	Splice_Site	SNP	A	C3L-02345_TP	7043594	119965230	25173406	115	9199											
KHDRBS3	0	.	GRCh38	chr8	135557552	135557552	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgagggaaacccaccttGcgtacaagaggtgtaccagc	11	7	12	11	2	0	1	0	0	0	1	1	3	0	2	3	2	5	3	3	2	4	4	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.576G>T	p.Leu192Phe	p.L192F	ENST00000355849	5/9	232	176	56	249	249	0	strelka-varscan-mutect	KHDRBS3,missense_variant,p.Leu192Phe,ENST00000355849,NM_006558.2;KHDRBS3,missense_variant,p.Leu164Phe,ENST00000524199,;KHDRBS3,missense_variant,p.Leu107Phe,ENST00000524282,;KHDRBS3,intron_variant,,ENST00000520981,;KHDRBS3,downstream_gene_variant,,ENST00000517394,;KHDRBS3,non_coding_transcript_exon_variant,,ENST00000522079,;KHDRBS3,missense_variant,p.Leu117Phe,ENST00000517859,;	T	ENST00000355849	Transcript	missense_variant	986/1977	576/1041	192/346	L/F	ttG/ttT		1		1	KHDRBS3	HGNC	HGNC:18117	protein_coding	YES	CCDS6374.1	ENSP00000348108	O75525		UPI0000073E6F	NM_006558.2	tolerated(0.7)		5/9		hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF29																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	135557552	135557552	G	T	1	0	0	0	0	1	0	0	0	8069	1310	46	2		2	KHDRBS3	8	135557552	Missense_Mutation	SNP	G	C3L-02345_TP	15592322	135557552	9581084	116	9200											
SCRIB	0	.	GRCh38	chr8	143812875	143812875	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcaggtcagtgagcagCaccagcccgccgagctcagc	10	3	13	15	2	2	1	2	1	0	0	2	2	2	1	3	1	7	5	3	1	0	0	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.729G>C	p.=	p.V243V	ENST00000356994	8/37	154	125	29	150	150	0	strelka-varscan-mutect	SCRIB,synonymous_variant,p.=,ENST00000356994,NM_182706.4;SCRIB,synonymous_variant,p.=,ENST00000320476,NM_015356.4;SCRIB,synonymous_variant,p.=,ENST00000377533,;PUF60,downstream_gene_variant,,ENST00000526683,NM_001271098.1,NM_078480.2;PUF60,downstream_gene_variant,,ENST00000453551,NM_001136033.2;PUF60,downstream_gene_variant,,ENST00000349157,NM_014281.4,NM_001271096.1;PUF60,downstream_gene_variant,,ENST00000313352,NM_001271100.1;PUF60,downstream_gene_variant,,ENST00000456095,NM_001271099.1;PUF60,downstream_gene_variant,,ENST00000527197,NM_001271097.1;PUF60,downstream_gene_variant,,ENST00000527744,;PUF60,downstream_gene_variant,,ENST00000526459,;PUF60,downstream_gene_variant,,ENST00000532884,;SCRIB,upstream_gene_variant,,ENST00000531942,;SCRIB,downstream_gene_variant,,ENST00000401271,;PUF60,downstream_gene_variant,,ENST00000524570,;PUF60,downstream_gene_variant,,ENST00000531951,;	G	ENST00000356994	Transcript	synonymous_variant	736/5218	729/4968	243/1655	V	gtG/gtC		1		-1	SCRIB	HGNC	HGNC:30377	protein_coding	YES	CCDS6412.1	ENSP00000349486	Q14160		UPI000232E1C0	NM_182706.4			8/37		Low_complexity_(Seg):seg,PROSITE_profiles:PS51450,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058																	LOW		SNV	2			1										PASS		rs1245907254	.												G	2	3	31	143812875	143812875	C	G	1	0	0	0	0	0	0	0	1	14207	697	25	4		4	SCRIB	8	143812875	Silent	SNP	C	C3L-02345_TP	8255323	143812875	1325761	117	9201											
DMRTA1	0	.	GRCh38	chr9	22451676	22451676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgattcaagtctctacgGcgtaaatcctagagtaggta	12	11	11	7	2	2	2	1	1	1	1	4	2	3	2	1	3	1	3	1	3	7	6	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1280G>A	p.Gly427Asp	p.G427D	ENST00000325870	2/2	251	223	28	361	361	0	strelka-varscan-mutect	DMRTA1,missense_variant,p.Gly427Asp,ENST00000325870,NM_022160.2;	A	ENST00000325870	Transcript	missense_variant	1505/5569	1280/1515	427/504	G/D	gGc/gAc		1		1	DMRTA1	HGNC	HGNC:13826	protein_coding	YES	CCDS6514.1	ENSP00000319651	Q5VZB9		UPI000014178A	NM_022160.2	tolerated(0.24)		2/2		hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF71																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	22451676	22451676	G	A	1	0	0	0	0	1	0	0	0	4395	1203	42	3		3	DMRTA1	9	22451676	Missense_Mutation	SNP	G	C3L-02345_TP		22451676	115943041	118	9202											
SPATA31A1	0	.	GRCh38	chr9	39359058	39359058	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtccctggtggctaacgcCtgggtaactgacaggtctta	8	10	13	10	1	1	1	0	1	1	0	2	2	2	1	2	4	2	2	2	4	3	3	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1335C>A	p.=	p.A445A	ENST00000377647	4/4	139	115	24	229	227	2	strelka-varscan-mutect	SPATA31A1,synonymous_variant,p.=,ENST00000377647,NM_001085452.2;RP11-347J14.4,downstream_gene_variant,,ENST00000615174,;SPATA31A1,downstream_gene_variant,,ENST00000473440,;	A	ENST00000377647	Transcript	synonymous_variant	1355/4256	1335/4086	445/1361	A	gcC/gcA		1		1	SPATA31A1	HGNC	HGNC:23394	protein_coding	YES	CCDS43808.2	ENSP00000366875		A0A0R4J2F1	UPI0001AE6DFD	NM_001085452.2			4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18,Pfam_domain:PF14650																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	31	39359058	39359058	C	A	1	0	0	0	0	0	0	0	1	15343	668	24	2		2	SPATA31A1	9	39359058	Silent	SNP	C	C3L-02345_TP	16907382	39359058	99035659	119	9203											
TRPM6	0	.	GRCh38	chr9	74752295	74752295	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctcttgagactgctttagGtaatcactgatttgtatagc	10	15	8	8	0	2	2	1	2	1	1	2	3	2	2	1	1	2	3	1	1	4	7	rs750345449		C3L-02345_TP	C3L-02345_NB	G	G																c.4980C>A	p.Tyr1660Ter	p.Y1660*	ENST00000360774	29/39	176	165	11	225	225	0	strelka-varscan-mutect	TRPM6,stop_gained,p.Tyr1660Ter,ENST00000360774,NM_017662.4;TRPM6,stop_gained,p.Tyr1655Ter,ENST00000361255,NM_001177311.1;TRPM6,stop_gained,p.Tyr1655Ter,ENST00000449912,NM_001177310.1;	T	ENST00000360774	Transcript	stop_gained	5218/8425	4980/6069	1660/2022	Y/*	taC/taA	rs750345449	1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4			29/39		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15																	HIGH	1	SNV	1			1										PASS		rs750345449	.												T	4	4	31	74752295	74752295	G	T	1	0	0	0	0	0	1	0	0	17096	1256	44	2		2	TRPM6	9	74752295	Nonsense_Mutation	SNP	G	C3L-02345_TP	35393237	74752295	63642422	120	9204											
TRPM6	0	.	GRCh38	chr9	74775938	74775938	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcgatgacagcacaggcgGcggaggagaaggcccacgtg	10	3	17	11	4	0	2	0	1	0	1	1	5	0	3	1	5	1	2	1	5	1	0	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.3348C>T	p.=	p.R1116R	ENST00000360774	24/39	210	197	13	306	306	0	strelka-varscan-mutect	TRPM6,synonymous_variant,p.=,ENST00000360774,NM_017662.4;TRPM6,synonymous_variant,p.=,ENST00000361255,NM_001177311.1;TRPM6,synonymous_variant,p.=,ENST00000449912,NM_001177310.1;	A	ENST00000360774	Transcript	synonymous_variant	3586/8425	3348/6069	1116/2022	R	cgC/cgT		1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4			24/39		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	31	74775938	74775938	G	A	1	0	0	0	0	0	0	0	1	17096	1190	42	3		3	TRPM6	9	74775938	Silent	SNP	G	C3L-02345_TP	23643	74775938	63618779	121	9205											
AGTPBP1	0	.	GRCh38	chr9	85657491	85657491	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaataaatgcttttcttcCcaacttgatgtttgtaacac	12	16	4	9	0	2	1	1	1	1	0	3	1	3	1	1	0	3	3	1	0	5	7	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1009G>T	p.Gly337Ter	p.G337*	ENST00000337006	9/25	193	181	12	309	307	2	strelka-mutect	AGTPBP1,stop_gained,p.Gly337Ter,ENST00000337006,NM_001286715.1;AGTPBP1,stop_gained,p.Gly285Ter,ENST00000357081,;AGTPBP1,stop_gained,p.Gly337Ter,ENST00000628899,NM_001286717.1;AGTPBP1,stop_gained,p.Gly285Ter,ENST00000376083,NM_015239.2;AGTPBP1,non_coding_transcript_exon_variant,,ENST00000491784,;AGTPBP1,non_coding_transcript_exon_variant,,ENST00000376080,;AGTPBP1,intron_variant,,ENST00000376081,;	A	ENST00000337006	Transcript	stop_gained	1076/4473	1009/3837	337/1278	G/*	Gga/Tga		1		-1	AGTPBP1	HGNC	HGNC:17258	protein_coding	YES	CCDS75854.1	ENSP00000338512		J3KNS1	UPI000387D56E	NM_001286715.1			9/25		hmmpanther:PTHR12756:SF24,hmmpanther:PTHR12756,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	31	85657491	85657491	C	A	1	0	0	0	0	0	1	0	0	479	632	22	2		2	AGTPBP1	9	85657491	Nonsense_Mutation	SNP	C	C3L-02345_TP	10881553	85657491	52737226	122	9206											
WNK2	0	.	GRCh38	chr9	93261891	93261891	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctgtgccaccggctgcGgtcctctcgccgcctctgcc	1	9	12	19	4	2	0	0	0	2	0	4	0	3	0	7	2	4	1	7	2	0	0	rs756092305		C3L-02345_TP	C3L-02345_NB	G	G																c.3144G>T	p.=	p.A1048A	ENST00000297954	12/30	127	99	28	171	171	0	strelka-varscan-mutect	WNK2,synonymous_variant,p.=,ENST00000432730,;WNK2,synonymous_variant,p.=,ENST00000297954,NM_001282394.1;WNK2,synonymous_variant,p.=,ENST00000395477,NM_006648.3;WNK2,synonymous_variant,p.=,ENST00000411624,;WNK2,5_prime_UTR_variant,,ENST00000427277,;WNK2,upstream_gene_variant,,ENST00000448251,;WNK2,downstream_gene_variant,,ENST00000448039,;WNK2,downstream_gene_variant,,ENST00000464625,;WNK2,upstream_gene_variant,,ENST00000478583,;	T	ENST00000297954	Transcript	synonymous_variant	3144/7138	3144/6894	1048/2297	A	gcG/gcT	rs756092305	1		1	WNK2	HGNC	HGNC:14542	protein_coding	YES	CCDS75858.1	ENSP00000297954	Q9Y3S1		UPI0000236D76	NM_001282394.1			12/30		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs756092305	.												T	2	4	31	93261891	93261891	G	T	1	0	0	0	0	0	0	0	1	17934	1103	39	1		1	WNK2	9	93261891	Silent	SNP	G	C3L-02345_TP	7604400	93261891	45132826	123	9207											
PTCH1	0	.	GRCh38	chr9	95476034	95476034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcaccagaagctcacCtggagggagaacgcccgcag	11	5	11	14	2	3	2	3	0	0	2	3	4	3	3	3	2	2	2	3	2	2	1	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1728G>T	p.Gln576His	p.Q576H	ENST00000331920	12/24	367	339	28	488	488	0	strelka-varscan-mutect	PTCH1,missense_variant,p.Gln510His,ENST00000430669,;PTCH1,missense_variant,p.Gln576His,ENST00000331920,NM_000264.3;PTCH1,missense_variant,p.Gln510His,ENST00000437951,NM_001083602.1;PTCH1,missense_variant,p.Gln425His,ENST00000418258,NM_001083607.1;PTCH1,missense_variant,p.Gln425His,ENST00000421141,NM_001083604.1,NM_001083605.1;PTCH1,missense_variant,p.Gln425His,ENST00000429896,NM_001083606.1;PTCH1,missense_variant,p.Gln575His,ENST00000375274,NM_001083603.1;PTCH1,missense_variant,p.Gln241His,ENST00000375271,;PTCH1,downstream_gene_variant,,ENST00000553011,;PTCH1,downstream_gene_variant,,ENST00000547672,;PTCH1,downstream_gene_variant,,ENST00000546820,;PTCH1,downstream_gene_variant,,ENST00000551845,;PTCH1,downstream_gene_variant,,ENST00000548420,;PTCH1,downstream_gene_variant,,ENST00000548379,;PTCH1,downstream_gene_variant,,ENST00000553256,;PTCH1,downstream_gene_variant,,ENST00000548945,;PTCH1,missense_variant,p.Gln455His,ENST00000375290,;PTCH1,downstream_gene_variant,,ENST00000550914,;PTCH1,downstream_gene_variant,,ENST00000488809,;	A	ENST00000331920	Transcript	missense_variant,splice_region_variant	2028/8057	1728/4344	576/1447	Q/H	caG/caT		1		-1	PTCH1	HGNC	HGNC:9585	protein_coding	YES	CCDS6714.1	ENSP00000332353	Q13635		UPI00001AFF9C	NM_000264.3	deleterious(0.01)		12/24		Gene3D:2j8sB01,Pfam_domain:PF02460,PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF61,Superfamily_domains:SSF82866,TIGRFAM_domain:TIGR00918,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	31	95476034	95476034	C	A	1	0	0	0	0	1	0	0	0	12883	695	24	2		2	PTCH1	9	95476034	Missense_Mutation	SNP	C	C3L-02345_TP	2214143	95476034	42918683	124	9208											
CYLC2	0	.	GRCh38	chr9	103005349	103005349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattacaagctgtaaaagcaGatgaaaagaaggatgaggat	20	7	11	3	0	0	4	0	2	0	2	0	6	0	6	0	2	3	3	0	2	8	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.718G>A	p.Asp240Asn	p.D240N	ENST00000374798	5/8	200	186	14	273	273	0	strelka-varscan-mutect	CYLC2,missense_variant,p.Asp240Asn,ENST00000374798,NM_001340.4;CYLC2,missense_variant,p.Asp240Asn,ENST00000487798,;CYLC2,missense_variant,p.Asp240Asn,ENST00000612124,;	A	ENST00000374798	Transcript	missense_variant	788/2171	718/1047	240/348	D/N	Gat/Aat		1		1	CYLC2	HGNC	HGNC:2583	protein_coding	YES	CCDS35085.1	ENSP00000420256	Q14093	A0A024R146	UPI0000128C36	NM_001340.4	tolerated(0.18)		5/8		hmmpanther:PTHR16742,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	103005349	103005349	G	A	1	0	0	0	0	1	0	0	0	3945	942	33	3		3	CYLC2	9	103005349	Missense_Mutation	SNP	G	C3L-02345_TP	7529315	103005349	35389368	125	9209											
SMC2	0	.	GRCh38	chr9	104096239	104096239	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcacttttgataattctgAcaaaaagcaaagtcctttag	16	13	5	7	0	2	2	1	2	1	0	3	2	3	2	1	0	1	1	1	0	6	6	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.260A>T	p.Asp87Val	p.D87V	ENST00000286398	3/25	135	128	7	179	178	1	strelka-varscan-mutect	SMC2,missense_variant,p.Asp87Val,ENST00000286398,NM_001042551.1,NM_006444.2,NM_001265602.1;SMC2,missense_variant,p.Asp87Val,ENST00000374793,;SMC2,missense_variant,p.Asp87Val,ENST00000374787,NM_001042550.1;SMC2,intron_variant,,ENST00000440179,;SMC2-AS1,upstream_gene_variant,,ENST00000603487,;SMC2-AS1,upstream_gene_variant,,ENST00000603949,;	T	ENST00000286398	Transcript	missense_variant	564/5992	260/3594	87/1197	D/V	gAc/gTc		1		1	SMC2	HGNC	HGNC:14011	protein_coding	YES	CCDS35086.1	ENSP00000286398	O95347	A0A024R158	UPI000013DE44	NM_001042551.1,NM_006444.2,NM_001265602.1	deleterious(0)		3/25		Gene3D:3.40.50.300,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF9,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1202967392	.												T	3	4	31	104096239	104096239	A	T	1	0	0	0	0	1	0	0	0	15076	275	10	4		4	SMC2	9	104096239	Missense_Mutation	SNP	A	C3L-02345_TP	1090890	104096239	34298478	126	9210											
OR1L6	0	.	GRCh38	chr9	122750599	122750599	+	Frame_Shift_Del	DEL	T	T	-																															ccacctcactgcagtagcccTtttctatgggagtattattt																								novel		C3L-02345_TP	C3L-02345_NB	T	T																c.755delT	p.Phe252SerfsTer23	p.F252Sfs*23	ENST00000304720	1/1	123	97	26	167	167	0	sindel-varindel-pindel	OR1L6,frameshift_variant,p.Phe288SerfsTer23,ENST00000373684,;OR1L6,frameshift_variant,p.Phe252SerfsTer23,ENST00000304720,NM_001004453.2;	-	ENST00000304720	Transcript	frameshift_variant	752/936	752/936	251/311	L/X	cTt/ct		1		1	OR1L6	HGNC	HGNC:8218	protein_coding	YES	CCDS35130.2	ENSP00000304235		A0A0C4DFP2	UPI000003CAAE	NM_001004453.2			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF342,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	HIGH	1	deletion		3		1										PASS		.	.												-	7	5	31	122750599	122750599	T	-	1	0	1	0	1	0	0	0	0	11044	1609	56	0		0	OR1L6	9	122750599	Frame_Shift_Del	DEL	T	C3L-02345_TP	18654360	122750599	15644118	127	9211											
CRB2	0	.	GRCh38	chr9	123366091	123366091	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgcgcacatgggggcaCgtgccacgacctggtcaacg	7	5	15	14	5	1	0	1	0	0	0	1	1	1	0	3	3	3	2	3	3	1	0	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.593C>G	p.Thr198Arg	p.T198R	ENST00000373631	3/13	47	43	4	69	69	0	strelka-varscan-mutect	CRB2,missense_variant,p.Thr198Arg,ENST00000373631,NM_173689.6;CRB2,missense_variant,p.Thr198Arg,ENST00000359999,;CRB2,upstream_gene_variant,,ENST00000460253,;	G	ENST00000373631	Transcript	missense_variant	594/5550	593/3858	198/1285	T/R	aCg/aGg		1		1	CRB2	HGNC	HGNC:18688	protein_coding	YES	CCDS6852.2	ENSP00000362734	Q5IJ48		UPI000022D9DE	NM_173689.6	tolerated(0.3)		3/13		Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF1,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		rs1168773901	.												G	3	3	31	123366091	123366091	C	G	1	0	0	0	0	1	0	0	0	3649	536	19	4		4	CRB2	9	123366091	Missense_Mutation	SNP	C	C3L-02345_TP	615492	123366091	15028626	128	9212											
ENTPD8	0	.	GRCh38	chr9	137438064	137438064	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacgtgtgggaggagccCgcatcaaacacgatcccaaa	13	4	13	11	3	1	0	1	0	0	0	2	4	2	3	2	3	2	1	2	3	2	0	rs531135716		C3L-02345_TP	C3L-02345_NB	C	C																c.147G>T	p.=	p.A49A	ENST00000371506	3/10	103	80	23	110	110	0	strelka-varscan-mutect	ENTPD8,synonymous_variant,p.=,ENST00000371506,NM_001033113.1;ENTPD8,synonymous_variant,p.=,ENST00000344119,NM_198585.2;ENTPD8,synonymous_variant,p.=,ENST00000472938,;ENTPD8,synonymous_variant,p.=,ENST00000493135,;NOXA1,downstream_gene_variant,,ENST00000341349,NM_001256067.1,NM_006647.1;NOXA1,downstream_gene_variant,,ENST00000392815,NM_001256068.1;ENTPD8,non_coding_transcript_exon_variant,,ENST00000461823,;	A	ENST00000371506	Transcript	synonymous_variant	331/2222	147/1488	49/495	A	gcG/gcT	rs531135716,COSM3375186,COSM3375187,COSM3656026,COSM3656027	1		-1	ENTPD8	HGNC	HGNC:24860	protein_coding	YES	CCDS43913.1	ENSP00000360561	Q5MY95		UPI0000D6195D	NM_001033113.1			3/10		Pfam_domain:PF01150,hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF31											0,1,1,1,1						LOW		SNV	5		0,1,1,1,1	1										PASS		rs531135716	.												A	2	1	31	137438064	137438064	C	A	1	0	0	0	0	0	0	0	1	4990	639	23	1		1	ENTPD8	9	137438064	Silent	SNP	C	C3L-02345_TP	14071973	137438064	956653	129	9213											
MRC1	0	.	GRCh38	chr10	17881162	17881162	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagggaatctggtctccatAcaaaatgaaaaagagcaagg	17	6	12	6	0	2	2	0	1	2	1	3	4	2	4	1	4	2	1	1	4	7	1	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.2961A>G	p.Ile987Met	p.I987M	ENST00000569591	21/30	322	263	59	333	333	0	strelka-mutect	MRC1,missense_variant,p.Ile987Met,ENST00000569591,NM_002438.3;	G	ENST00000569591	Transcript	missense_variant	3083/5198	2961/4371	987/1456	I/M	atA/atG		1		1	MRC1	HGNC	HGNC:7228	protein_coding	YES	CCDS7123.2	ENSP00000455897	P22897		UPI000012EB9A	NM_002438.3	deleterious(0)		21/30		PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF73,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	31	17881162	17881162	A	G	1	0	0	0	0	1	0	0	0	9722	381	14	5		5	MRC1	10	17881162	Missense_Mutation	SNP	A	C3L-02345_TP		17881162	115916260	130	9214											
ZNF33B	0	.	GRCh38	chr10	42593333	42593333	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttctctgatgtattgtgagGtctgacttcaagcagaaggt	9	14	12	6	0	3	4	1	3	2	1	4	4	3	4	0	2	1	3	0	2	3	4	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1617C>G	p.Asp539Glu	p.D539E	ENST00000359467	5/5	200	155	45	278	278	0	strelka-varscan-mutect	ZNF33B,missense_variant,p.Asp539Glu,ENST00000359467,NM_001305036.1,NM_001305033.1,NM_006955.1;ZNF33B,missense_variant,p.Asp539Glu,ENST00000613419,;ZNF33B,intron_variant,,ENST00000465206,;ZNF33B,intron_variant,,ENST00000462075,;ZNF33B,intron_variant,,ENST00000486187,;	C	ENST00000359467	Transcript	missense_variant	1732/5958	1617/2337	539/778	D/E	gaC/gaG		1		-1	ZNF33B	HGNC	HGNC:13097	protein_coding	YES	CCDS7198.1	ENSP00000352444	Q06732		UPI000007257B	NM_001305036.1,NM_001305033.1,NM_006955.1	tolerated(0.28)		5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF204,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	31	42593333	42593333	G	C	1	0	0	0	0	1	0	0	0	18427	1252	44	4		4	ZNF33B	10	42593333	Missense_Mutation	SNP	G	C3L-02345_TP	24712171	42593333	91204089	131	9215											
FRMPD2	0	.	GRCh38	chr10	48236546	48236546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaggatgaactctggcCtggaaaactggaggaaaaca	16	5	11	9	0	1	1	0	1	1	0	1	5	1	5	2	5	4	0	2	5	6	0	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.929G>T	p.Arg310Met	p.R310M	ENST00000374201	9/29	176	152	24	224	223	1	strelka-varscan-mutect	FRMPD2,missense_variant,p.Arg310Met,ENST00000374201,NM_001018071.3;FRMPD2,missense_variant,p.Arg286Met,ENST00000305531,NM_001318191.1;FRMPD2,missense_variant,p.Arg310Met,ENST00000636244,;FRMPD2,3_prime_UTR_variant,,ENST00000637395,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000486151,;	A	ENST00000374201	Transcript	missense_variant	1232/4997	929/3930	310/1309	R/M	aGg/aTg		1		-1	FRMPD2	HGNC	HGNC:28572	protein_coding	YES	CCDS31195.1	ENSP00000363317	Q68DX3		UPI0000D60F5F	NM_001018071.3	tolerated(0.06)		9/29		hmmpanther:PTHR19964:SF42,hmmpanther:PTHR19964																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	48236546	48236546	C	A	1	0	0	0	0	1	0	0	0	5928	681	24	2		2	FRMPD2	10	48236546	Missense_Mutation	SNP	C	C3L-02345_TP	5643213	48236546	85560876	132	9216											
DNA2	0	.	GRCh38	chr10	68470121	68470121	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttatccattcctgtgctCagaactgttcttggaaagga	9	13	10	9	1	2	1	1	0	1	1	4	3	4	3	2	3	2	3	2	3	3	4	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.117G>T	p.=	p.L39L	ENST00000358410	2/21	209	162	47	180	179	1	strelka-varscan-mutect	DNA2,synonymous_variant,p.=,ENST00000358410,NM_001080449.2;DNA2,synonymous_variant,p.=,ENST00000551118,;DNA2,synonymous_variant,p.=,ENST00000399180,;DNA2,synonymous_variant,p.=,ENST00000399179,;DNA2,3_prime_UTR_variant,,ENST00000550357,;	A	ENST00000358410	Transcript	synonymous_variant	168/4208	117/3183	39/1060	L	ctG/ctT		1		-1	DNA2	HGNC	HGNC:2939	protein_coding	YES	CCDS44415.2	ENSP00000351185	P51530		UPI00001C1EDB	NM_001080449.2			2/21		hmmpanther:PTHR10887:SF14,hmmpanther:PTHR10887																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	31	68470121	68470121	C	A	1	0	0	0	0	0	0	0	1	4405	813	29	2		2	DNA2	10	68470121	Silent	SNP	C	C3L-02345_TP	20233575	68470121	65327301	133	9217											
RGR	0	.	GRCh38	chr10	84253003	84253003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaccctggactactccaagGgggacaggtgaggtgggagg	9	5	18	9	0	0	1	0	1	0	0	1	4	1	4	2	7	1	1	2	7	2	1			C3L-02345_TP	C3L-02345_NB	G	G																c.517G>A	p.Gly173Arg	p.G173R	ENST00000359452	4/7	155	129	26	181	181	0	strelka-varscan-mutect	RGR,missense_variant,p.Gly173Arg,ENST00000359452,NM_002921.3,NM_001012720.1;RGR,missense_variant,p.Gly169Arg,ENST00000358110,NM_001012722.1;RGR,downstream_gene_variant,,ENST00000372092,;RGR,non_coding_transcript_exon_variant,,ENST00000478727,;RGR,non_coding_transcript_exon_variant,,ENST00000483660,;RGR,non_coding_transcript_exon_variant,,ENST00000497161,;RGR,non_coding_transcript_exon_variant,,ENST00000483744,;RGR,upstream_gene_variant,,ENST00000479725,;RGR,non_coding_transcript_exon_variant,,ENST00000483771,;	A	ENST00000359452	Transcript	missense_variant	555/2247	517/888	173/295	G/R	Ggg/Agg	COSM3441123	1		1	RGR	HGNC	HGNC:9990	protein_coding	YES	CCDS7374.1	ENSP00000352427	P47804	A0A0S2Z498	UPI0000072293	NM_002921.3,NM_001012720.1	tolerated(0.05)		4/7		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00667,PROSITE_profiles:PS50262,hmmpanther:PTHR24240,Superfamily_domains:SSF81321											1						MODERATE	1	SNV	1		1	1										PASS		rs1173272937	.												A	3	1	31	84253003	84253003	G	A	1	0	0	0	0	1	0	0	0	13462	1232	43	3		3	RGR	10	84253003	Missense_Mutation	SNP	G	C3L-02345_TP	15782882	84253003	49544419	134	9218											
NUTM2A	0	.	GRCh38	chr10	87228638	87228638	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctactcctggcagctgctcCtgtggtgcctgttatggctg	3	13	12	13	0	0	0	0	0	0	0	2	0	2	0	4	3	4	5	4	3	2	2	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.758C>G	p.Pro253Arg	p.P253R	ENST00000381707	2/7	62	55	7	101	101	0	varscan-mutect	NUTM2A,missense_variant,p.Pro253Arg,ENST00000381689,;NUTM2A,missense_variant,p.Pro253Arg,ENST00000381707,NM_001099338.1;NUTM2A-AS1,intron_variant,,ENST00000451940,;	G	ENST00000381707	Transcript	missense_variant	1141/3290	758/2637	253/878	P/R	cCt/cGt		1		1	NUTM2A	HGNC	HGNC:23438	protein_coding	YES	CCDS44452.1	ENSP00000371126	Q8IVF1		UPI00001B6532	NM_001099338.1	tolerated(0.21)		2/7		Pfam_domain:PF12881,hmmpanther:PTHR22879,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	31	87228638	87228638	C	G	1	0	0	0	0	1	0	0	0	10847	681	24	4		4	NUTM2A	10	87228638	Missense_Mutation	SNP	C	C3L-02345_TP	2975635	87228638	46568784	135	9219											
PNLIP	0	.	GRCh38	chr10	116546106	116546106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtagatgctgccactttGgactctttcactgctgctgg	5	14	11	11	1	2	1	1	0	1	1	2	2	2	2	1	2	4	4	1	2	1	3	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.14G>C	p.Trp5Ser	p.W5S	ENST00000369221	2/13	185	157	28	214	214	0	strelka-varscan-mutect	PNLIP,missense_variant,p.Trp5Ser,ENST00000369221,NM_000936.2;PNLIP,non_coding_transcript_exon_variant,,ENST00000470562,;	C	ENST00000369221	Transcript	missense_variant	42/1483	14/1398	5/465	W/S	tGg/tCg		1		1	PNLIP	HGNC	HGNC:9155	protein_coding	YES	CCDS7594.1	ENSP00000358223	P16233		UPI000004F1A0	NM_000936.2	deleterious(0)		2/13		PIRSF_domain:PIRSF000865,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	31	116546106	116546106	G	C	1	0	0	0	0	1	0	0	0	12257	1357	47	4		4	PNLIP	10	116546106	Missense_Mutation	SNP	G	C3L-02345_TP	29317468	116546106	17251316	136	9220											
CPXM2	0	.	GRCh38	chr10	123862655	123862655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgcccccaggccatagcGcttcaccgtggaggcatgga	8	7	13	13	2	1	0	1	0	0	0	1	2	1	2	4	4	2	2	4	4	1	2	rs761486980		C3L-02345_TP	C3L-02345_NB	G	G																c.472C>A	p.Arg158Ser	p.R158S	ENST00000241305	3/14	336	290	46	351	351	0	strelka-varscan-mutect	CPXM2,missense_variant,p.Arg158Ser,ENST00000241305,NM_198148.2;CPXM2,5_prime_UTR_variant,,ENST00000615851,;CPXM2,non_coding_transcript_exon_variant,,ENST00000368854,;	T	ENST00000241305	Transcript	missense_variant	627/3554	472/2271	158/756	R/S	Cgc/Agc	rs761486980	1		-1	CPXM2	HGNC	HGNC:26977	protein_coding	YES	CCDS7637.1	ENSP00000241305	Q8N436		UPI00001AE6BE	NM_198148.2	tolerated(0.17)		3/14		PROSITE_profiles:PS50022,hmmpanther:PTHR11532:SF45,hmmpanther:PTHR11532,Gene3D:2.60.120.260,SMART_domains:SM00231,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		rs761486980	.												T	3	4	31	123862655	123862655	G	T	1	0	0	0	0	1	0	0	0	3636	1087	38	1		1	CPXM2	10	123862655	Missense_Mutation	SNP	G	C3L-02345_TP	7316549	123862655	9934767	137	9221											
OR52N4	0	.	GRCh38	chr11	5754881	5754881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggtagggaattgtggactCctctacctcattcactatga	10	13	9	9	0	3	1	2	1	1	0	4	3	4	3	2	3	1	1	2	3	4	5	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.141C>T	p.=	p.L47L	ENST00000317254	1/1	317	252	65	345	345	0	strelka-varscan-mutect	OR52N4,synonymous_variant,p.=,ENST00000317254,NM_001005175.3;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	T	ENST00000317254	Transcript	synonymous_variant	189/1037	141/966	47/321	L	ctC/ctT		1		1	OR52N4	HGNC	HGNC:15230	protein_coding	YES	CCDS44528.1	ENSP00000323224	Q8NGI2		UPI00001AF18B	NM_001005175.3			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF74,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	31	5754881	5754881	C	T	1	0	0	0	0	0	0	0	1	11202	842	30	3		3	OR52N4	11	5754881	Silent	SNP	C	C3L-02345_TP		5754881	129331741	138	9222											
ARNTL	0	.	GRCh38	chr11	13374126	13374126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttggcatatttaccacaaGaacttctaggcacatcgtgt	11	14	7	9	1	1	1	0	0	1	1	2	1	1	1	1	2	2	2	1	2	5	7	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1099G>A	p.Glu367Lys	p.E367K	ENST00000403290	14/20	225	184	41	241	240	1	strelka-varscan-mutect	ARNTL,missense_variant,p.Glu324Lys,ENST00000401424,NM_001297724.1;ARNTL,missense_variant,p.Glu366Lys,ENST00000389707,NM_001030272.2,NM_001178.5;ARNTL,missense_variant,p.Glu367Lys,ENST00000403290,NM_001297722.1,NM_001297719.1;ARNTL,missense_variant,p.Glu323Lys,ENST00000403510,NM_001030273.2;ARNTL,missense_variant,p.Glu365Lys,ENST00000403482,;ARNTL,downstream_gene_variant,,ENST00000497429,;ARNTL,missense_variant,p.Glu12Lys,ENST00000524392,;ARNTL,non_coding_transcript_exon_variant,,ENST00000529390,;ARNTL,upstream_gene_variant,,ENST00000472842,;ARNTL,downstream_gene_variant,,ENST00000534102,;	A	ENST00000403290	Transcript	missense_variant	1454/2746	1099/1881	367/626	E/K	Gaa/Aaa		1		1	ARNTL	HGNC	HGNC:701	protein_coding	YES	CCDS73259.1	ENSP00000384517	O00327		UPI000002A4E9	NM_001297722.1,NM_001297719.1	deleterious(0)		14/20		Gene3D:3.30.450.20,Pfam_domain:PF14598,PROSITE_profiles:PS50112,hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF52,SMART_domains:SM00091,Superfamily_domains:SSF55785,TIGRFAM_domain:TIGR00229																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	13374126	13374126	G	A	1	0	0	0	0	1	0	0	0	1109	943	33	3		3	ARNTL	11	13374126	Missense_Mutation	SNP	G	C3L-02345_TP	7619245	13374126	121712496	139	9223											
C1QTNF4	0	.	GRCh38	chr11	47590479	47590479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgccgcgcgcctggcCgccgctgctcgtcgaaggcc	2	5	15	19	9	0	0	0	0	0	0	2	1	0	0	5	2	2	2	5	2	1	0	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.332G>T	p.Arg111Leu	p.R111L	ENST00000302514	2/2	78	57	21	79	79	0	strelka-varscan-mutect	C1QTNF4,missense_variant,p.Arg111Leu,ENST00000302514,NM_031909.2;C1QTNF4,intron_variant,,ENST00000530097,;FAM180B,downstream_gene_variant,,ENST00000538490,NM_001164379.1;	A	ENST00000302514	Transcript	missense_variant	849/1664	332/990	111/329	R/L	cGg/cTg		1		-1	C1QTNF4	HGNC	HGNC:14346	protein_coding	YES	CCDS7942.1	ENSP00000302274	Q9BXJ3		UPI00000746B6	NM_031909.2	deleterious(0.02)		2/2		Gene3D:2.60.120.40,Pfam_domain:PF00386,PROSITE_profiles:PS50871,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF551,SMART_domains:SM00110,Superfamily_domains:SSF49842																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	47590479	47590479	C	A	1	0	0	0	0	1	0	0	0	1943	652	23	1		1	C1QTNF4	11	47590479	Missense_Mutation	SNP	C	C3L-02345_TP	34216353	47590479	87496143	140	9224											
OR4P4	0	.	GRCh38	chr11	55638837	55638837	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccagtcagtttcttctCaccatctttgtaccattttg	6	18	5	12	0	5	0	2	0	4	0	6	0	5	0	3	0	2	2	3	0	1	6	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.480C>A	p.=	p.L160L	ENST00000314612	1/1	89	49	40	118	118	0	strelka-varscan-mutect	OR4P4,synonymous_variant,p.=,ENST00000314612,NM_001004124.2;	A	ENST00000314612	Transcript	synonymous_variant	480/939	480/939	160/312	L	ctC/ctA		1		1	OR4P4	HGNC	HGNC:15180	protein_coding	YES	CCDS31504.1	ENSP00000324831	Q8NGL7		UPI0000061E8A	NM_001004124.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF386,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												A	2	1	31	55638837	55638837	C	A	1	0	0	0	0	0	0	0	1	11156	813	29	2		2	OR4P4	11	55638837	Silent	SNP	C	C3L-02345_TP	8048358	55638837	79447785	141	9225											
OR8H3	0	.	GRCh38	chr11	56123309	56123309	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagaagacaggactccaggTagttaaaatagcagaaatgg	18	6	12	5	0	0	3	0	0	0	3	1	5	1	4	1	3	1	3	1	3	6	3	rs773933096		C3L-02345_TP	C3L-02345_NB	T	T																c.937T>A	p.Ter313LysextTer?	p.*313Kext*?	ENST00000313472	1/1	47	38	9	61	61	0	strelka-varscan-mutect	OR8H3,stop_lost,p.Ter313LysextTer?,ENST00000313472,NM_001005201.1;	A	ENST00000313472	Transcript	stop_lost	937/939	937/939	313/312	*/K	Tag/Aag	rs773933096	1		1	OR8H3	HGNC	HGNC:15309	protein_coding	YES	CCDS31519.1	ENSP00000323928	Q8N146		UPI0000041D25	NM_001005201.1			1/1																			HIGH	1	SNV				1										PASS		rs773933096	.												A	4	1	31	56123309	56123309	T	A	1	0	0	0	0	0	0	0	0	11307	1652	57	4		4	OR8H3	11	56123309	Nonstop_Mutation	SNP	T	C3L-02345_TP	484472	56123309	78963313	142	9226											
OR5B3	0	.	GRCh38	chr11	58403349	58403349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataaagaggggaacctgcaGttctgagtcattggttagtc	11	12	12	6	0	2	2	1	1	1	1	3	3	2	3	1	3	2	3	1	3	5	5	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.61C>A	p.Leu21Met	p.L21M	ENST00000309403	1/1	56	47	9	70	70	0	strelka-varscan-mutect	OR5B3,missense_variant,p.Leu21Met,ENST00000309403,NM_001005469.1;	T	ENST00000309403	Transcript	missense_variant	61/946	61/945	21/314	L/M	Ctg/Atg		1		-1	OR5B3	HGNC	HGNC:8324	protein_coding	YES	CCDS31549.1	ENSP00000308270	Q8NH48	A0A126GVH3	UPI0000041DD0	NM_001005469.1	deleterious_low_confidence(0.02)		1/1		hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF336,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	31	58403349	58403349	G	T	1	0	0	0	0	1	0	0	0	11223	1020	36	2		2	OR5B3	11	58403349	Missense_Mutation	SNP	G	C3L-02345_TP	2280040	58403349	76683273	143	9227											
TMEM132A	0	.	GRCh38	chr11	60927741	60927741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gactccagcagagccctacgCccgggttctcttccacctca	7	8	8	18	2	2	1	1	0	1	1	5	2	4	1	5	1	3	2	5	1	1	3			C3L-02345_TP	C3L-02345_NB	C	C																c.416C>A	p.Ala139Asp	p.A139D	ENST00000005286	3/11	278	217	61	276	276	0	strelka-varscan-mutect	TMEM132A,missense_variant,p.Ala139Asp,ENST00000005286,NM_017870.3;TMEM132A,missense_variant,p.Ala139Asp,ENST00000453848,NM_178031.2;TMEM132A,5_prime_UTR_variant,,ENST00000544065,;TMEM109,downstream_gene_variant,,ENST00000227525,NM_024092.2;TMEM109,downstream_gene_variant,,ENST00000536171,;TMEM132A,upstream_gene_variant,,ENST00000536409,;RP11-881M11.4,upstream_gene_variant,,ENST00000543907,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000540276,;TMEM132A,downstream_gene_variant,,ENST00000543732,;TMEM109,downstream_gene_variant,,ENST00000540280,;TMEM132A,downstream_gene_variant,,ENST00000537110,;TMEM132A,downstream_gene_variant,,ENST00000537065,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000544098,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000534983,;	A	ENST00000005286	Transcript	missense_variant	569/3480	416/3075	139/1024	A/D	gCc/gAc	COSM4734248,COSM4734249	1		1	TMEM132A	HGNC	HGNC:31092	protein_coding	YES	CCDS7997.1	ENSP00000005286	Q24JP5		UPI0000190977	NM_017870.3	deleterious(0.01)		3/11		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF9,Pfam_domain:PF15705											1,1						MODERATE		SNV	5		1,1	1										PASS		.	.												A	3	1	31	60927741	60927741	C	A	1	0	0	0	0	1	0	0	0	16489	739	26	2		2	TMEM132A	11	60927741	Missense_Mutation	SNP	C	C3L-02345_TP	2524392	60927741	74158881	144	9228											
B3GNT6	0	.	GRCh38	chr11	77040109	77040109	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgagcacggcgacgtgctGcagtgggccttcgcggacac	6	5	16	14	7	0	0	0	0	0	0	1	3	0	1	1	3	3	3	1	3	0	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.558G>T	p.=	p.L186L	ENST00000622824	2/2	201	159	42	201	200	1	strelka-varscan-mutect	B3GNT6,synonymous_variant,p.=,ENST00000622824,NM_138706.4;B3GNT6,downstream_gene_variant,,ENST00000528622,;	T	ENST00000622824	Transcript	synonymous_variant	639/2503	558/1155	186/384	L	ctG/ctT		1		1	B3GNT6	HGNC	HGNC:24141	protein_coding	YES	CCDS53681.1	ENSP00000484640	Q6ZMB0	A8K9Q8	UPI000006D55A	NM_138706.4			2/2		Pfam_domain:PF01762,hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF24																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	31	77040109	77040109	G	T	1	0	0	0	0	0	0	0	1	1417	1306	46	2		2	B3GNT6	11	77040109	Silent	SNP	G	C3L-02345_TP	16112368	77040109	58046513	145	9229											
PRCP	0	.	GRCh38	chr11	82850475	82850475	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcagccagagcttgttCtgatgtcaggaaattcaagt	14	11	9	7	0	4	2	3	1	1	1	4	3	4	3	1	1	2	2	1	1	4	3	rs774570476		C3L-02345_TP	C3L-02345_NB	C	C																c.505G>T	p.Glu169Ter	p.E169*	ENST00000393399	5/10	53	40	13	79	79	0	strelka-varscan-mutect	PRCP,stop_gained,p.Glu148Ter,ENST00000313010,NM_005040.2;PRCP,stop_gained,p.Glu169Ter,ENST00000393399,NM_199418.2;PRCP,stop_gained,p.Glu43Ter,ENST00000531801,;PRCP,stop_gained,p.Glu43Ter,ENST00000527444,;PRCP,stop_gained,p.Glu43Ter,ENST00000534631,;PRCP,stop_gained,p.Glu43Ter,ENST00000534396,;PRCP,stop_gained,p.Glu107Ter,ENST00000529671,;PRCP,stop_gained,p.Glu43Ter,ENST00000531128,;PRCP,stop_gained,p.Glu94Ter,ENST00000532809,;PRCP,stop_gained,p.Glu43Ter,ENST00000528082,;PRCP,stop_gained,p.Glu43Ter,ENST00000533126,;PRCP,downstream_gene_variant,,ENST00000534264,;PRCP,upstream_gene_variant,,ENST00000525772,;PRCP,upstream_gene_variant,,ENST00000532476,;PRCP,upstream_gene_variant,,ENST00000531283,;PRCP,upstream_gene_variant,,ENST00000526918,;PRCP,upstream_gene_variant,,ENST00000524642,;	A	ENST00000393399	Transcript	stop_gained	533/2120	505/1554	169/517	E/*	Gaa/Taa	rs774570476	1		-1	PRCP	HGNC	HGNC:9344	protein_coding	YES	CCDS41695.1	ENSP00000377055	P42785		UPI00001FB052	NM_199418.2			5/10		hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF38,Pfam_domain:PF05577,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	HIGH	1	SNV	2			1										PASS		rs774570476	.												A	4	1	31	82850475	82850475	C	A	1	0	0	0	0	0	1	0	0	12580	922	32	2		2	PRCP	11	82850475	Nonsense_Mutation	SNP	C	C3L-02345_TP	5810366	82850475	52236147	146	9230											
TYR	0	.	GRCh38	chr11	89295279	89295279	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgagcttgctgtgtcgTcacaagagaaagcagcttcc	9	11	11	10	1	1	2	1	1	0	1	3	3	2	2	1	0	4	4	1	0	2	3	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.1503T>A	p.=	p.R501R	ENST00000263321	5/5	243	187	56	307	307	0	strelka-varscan-mutect	TYR,synonymous_variant,p.=,ENST00000263321,NM_000372.4;TYR,non_coding_transcript_exon_variant,,ENST00000528243,;RP11-796A5.3,upstream_gene_variant,,ENST00000625091,;CBX3P7,upstream_gene_variant,,ENST00000532876,;	A	ENST00000263321	Transcript	synonymous_variant	2005/2485	1503/1590	501/529	R	cgT/cgA		1		1	TYR	HGNC	HGNC:12442	protein_coding	YES	CCDS8284.1	ENSP00000263321	P14679	L8B082	UPI000004441A	NM_000372.4			5/5		hmmpanther:PTHR11474:SF16,hmmpanther:PTHR11474																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	31	89295279	89295279	T	A	1	0	0	0	0	0	0	0	1	17328	1654	58	4		4	TYR	11	89295279	Silent	SNP	T	C3L-02345_TP	6444804	89295279	45791343	147	9231											
NOX4	0	.	GRCh38	chr11	89402507	89402507	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgatgcagccgggagggTgggtatctaaattagtttga	10	11	15	5	1	1	2	0	2	1	0	1	4	1	3	1	3	2	3	1	3	4	4	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.665A>T	p.His222Leu	p.H222L	ENST00000263317	9/18	142	106	36	171	171	0	strelka-varscan-mutect	NOX4,missense_variant,p.His198Leu,ENST00000424319,NM_001291926.1;NOX4,missense_variant,p.His198Leu,ENST00000343727,NM_001291927.1;NOX4,missense_variant,p.His222Leu,ENST00000263317,NM_016931.4;NOX4,missense_variant,p.His198Leu,ENST00000527956,NM_001143837.1;NOX4,missense_variant,p.His222Leu,ENST00000534731,NM_001143836.2;NOX4,missense_variant,p.His198Leu,ENST00000532825,NM_001300995.1;NOX4,missense_variant,p.His197Leu,ENST00000528341,NM_001291929.1;NOX4,missense_variant,p.His56Leu,ENST00000527626,;NOX4,intron_variant,,ENST00000525196,;NOX4,intron_variant,,ENST00000375979,;NOX4,intron_variant,,ENST00000531342,;NOX4,intron_variant,,ENST00000529343,;	A	ENST00000263317	Transcript	missense_variant	904/2388	665/1737	222/578	H/L	cAc/cTc		1		-1	NOX4	HGNC	HGNC:7891	protein_coding	YES	CCDS8285.1	ENSP00000263317	Q9NPH5		UPI000045655B	NM_016931.4	deleterious(0)		9/18																			MODERATE	1	SNV	1			1										PASS		rs752858739	.												A	3	1	31	89402507	89402507	T	A	1	0	0	0	0	1	0	0	0	10604	1696	59	4		4	NOX4	11	89402507	Missense_Mutation	SNP	T	C3L-02345_TP	107228	89402507	45684115	148	9232											
CBL	0	.	GRCh38	chr11	119278166	119278166	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaattttttttaatcaaagGaacaatatgaattatactgt	16	18	4	3	0	1	1	1	1	0	0	1	2	1	2	0	1	2	0	0	1	9	8	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1096G>T	p.Glu366Ter	p.E366*	ENST00000264033	8/16	159	126	33	240	239	1	strelka-varscan-mutect	CBL,stop_gained,p.Glu366Ter,ENST00000264033,NM_005188.3;CBL,stop_gained,p.Glu366Ter,ENST00000634840,;CBL,stop_gained,p.Glu366Ter,ENST00000634586,;CBL,stop_gained,p.Glu364Ter,ENST00000637974,;	T	ENST00000264033	Transcript	stop_gained,splice_region_variant	1238/11231	1096/2721	366/906	E/*	Gaa/Taa		1		1	CBL	HGNC	HGNC:1541	protein_coding	YES	CCDS8418.1	ENSP00000264033	P22681		UPI000013D4A7	NM_005188.3			8/16		Gene3D:3.30.40.10,hmmpanther:PTHR23007,hmmpanther:PTHR23007:SF5,Superfamily_domains:SSF57850																	HIGH	1	SNV	1			1										PASS		rs1245863855	.												T	4	4	31	119278166	119278166	G	T	1	0	0	0	0	0	1	0	0	2401	1188	41	2		2	CBL	11	119278166	Nonsense_Mutation	SNP	G	C3L-02345_TP	29875659	119278166	15808456	149	9233											
KCNA5	0	.	GRCh38	chr12	5045616	5045616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggacatgaggcccatcaCtgttgggggcaagatcgtgg	8	7	17	9	2	1	2	1	1	0	1	2	3	1	3	1	6	0	2	1	6	1	1	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1469C>A	p.Thr490Asn	p.T490N	ENST00000252321	1/1	196	110	86	258	258	0	strelka-varscan-mutect	KCNA5,missense_variant,p.Thr490Asn,ENST00000252321,NM_002234.3;	A	ENST00000252321	Transcript	missense_variant	1628/2800	1469/1842	490/613	T/N	aCt/aAt		1		1	KCNA5	HGNC	HGNC:6224	protein_coding	YES	CCDS8536.1	ENSP00000252321	P22460		UPI000013CD56	NM_002234.3	deleterious(0)		1/1		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25,Superfamily_domains:SSF81324																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	31	5045616	5045616	C	A	1	0	0	0	0	1	0	0	0	7922	565	20	2		2	KCNA5	12	5045616	Missense_Mutation	SNP	C	C3L-02345_TP		5045616	128229693	150	9234											
ABCC9	0	.	GRCh38	chr12	21894110	21894110	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatatggaagagagacAgtgaagcaaaggcctctgca	15	5	13	8	0	1	3	0	1	1	2	1	6	1	5	2	3	2	2	2	3	4	1			C3L-02345_TP	C3L-02345_NB	A	A																c.1724T>A	p.Leu575Gln	p.L575Q	ENST00000261200	12/38	356	225	131	400	399	1	strelka-varscan-mutect	ABCC9,missense_variant,p.Leu575Gln,ENST00000261200,NM_020297.3;ABCC9,missense_variant,p.Leu575Gln,ENST00000261201,NM_005691.3;ABCC9,missense_variant,p.Leu238Gln,ENST00000544039,;	T	ENST00000261200	Transcript	missense_variant	1724/8293	1724/4650	575/1549	L/Q	cTg/cAg	COSM3871292,COSM3871293	1		-1	ABCC9	HGNC	HGNC:60	protein_coding	YES	CCDS8693.1	ENSP00000261200	O60706		UPI000013D13F	NM_020297.3	deleterious(0)		12/38		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	31	21894110	21894110	A	T	1	0	0	0	0	1	0	0	0	63	188	7	4		4	ABCC9	12	21894110	Missense_Mutation	SNP	A	C3L-02345_TP	16848494	21894110	111381199	151	9235											
KRAS	0	.	GRCh38	chr12	25245348	25245348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcactcttgcctacgcCaccagctccaactaccacaa	12	6	5	18	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	5	3	rs121913535		C3L-02345_TP	C3L-02345_NB	C	C																c.37G>T	p.Gly13Cys	p.G13C	ENST00000256078	2/6	341	222	119	387	387	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly13Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly13Cys,ENST00000556131,;KRAS,missense_variant,p.Gly13Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly13Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	101/1119	37/570	13/189	G/C	Ggc/Tgc	rs121913535,COSM1152505,COSM3384258,COSM527,COSM528,COSM529	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.02)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1	1										PASS		rs121913535	.												A	3	1	31	25245348	25245348	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245348	Missense_Mutation	SNP	C	C3L-02345_TP	3351238	25245348	108029961	152	9236											
DTX3	0	.	GRCh38	chr12	57608580	57608580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacgggtggcctacctcccgGactgccctgagggcaacaag	8	5	13	15	2	0	1	0	1	0	0	1	2	1	2	4	4	3	1	4	4	3	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.820G>T	p.Asp274Tyr	p.D274Y	ENST00000551632	5/6	100	54	46	83	83	0	strelka-varscan-mutect	DTX3,missense_variant,p.Asp271Tyr,ENST00000548198,;DTX3,missense_variant,p.Asp271Tyr,ENST00000548804,NM_001286246.1;DTX3,missense_variant,p.Asp271Tyr,ENST00000337737,NM_178502.3;DTX3,missense_variant,p.Asp274Tyr,ENST00000551632,NM_001286245.1;DTX3,missense_variant,p.Asp59Tyr,ENST00000550300,;ARHGEF25,upstream_gene_variant,,ENST00000286494,NM_182947.3;DTX3,downstream_gene_variant,,ENST00000548478,;ARHGEF25,upstream_gene_variant,,ENST00000333972,NM_001111270.2;ARHGEF25,upstream_gene_variant,,ENST00000616622,;DTX3,downstream_gene_variant,,ENST00000549583,;DTX3,downstream_gene_variant,,ENST00000550596,;DTX3,downstream_gene_variant,,ENST00000551835,;AC025165.8,downstream_gene_variant,,ENST00000356672,;AC025165.8,downstream_gene_variant,,ENST00000444467,;	T	ENST00000551632	Transcript	missense_variant	955/1840	820/1053	274/350	D/Y	Gac/Tac		1		1	DTX3	HGNC	HGNC:24457	protein_coding	YES	CCDS66410.1	ENSP00000448696	Q8N9I9		UPI000006EA20	NM_001286245.1	deleterious(0)		5/6		hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF24																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	31	57608580	57608580	G	T	1	0	0	0	0	1	0	0	0	4618	1174	41	2		2	DTX3	12	57608580	Missense_Mutation	SNP	G	C3L-02345_TP	32363232	57608580	75666729	153	9237											
TBC1D30	0	.	GRCh38	chr12	64843425	64843425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaattctacagcaccatGgggcgccttacccaggagat	11	8	11	11	1	1	2	0	1	1	1	1	4	1	2	3	3	3	1	3	3	3	3	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.978G>T	p.Met326Ile	p.M326I	ENST00000539867	8/12	180	124	56	169	169	0	strelka-varscan-mutect	TBC1D30,missense_variant,p.Met212Ile,ENST00000542120,;TBC1D30,missense_variant,p.Met326Ile,ENST00000539867,NM_015279.1;	T	ENST00000539867	Transcript	missense_variant	1286/2594	978/2286	326/761	M/I	atG/atT		1		1	TBC1D30	HGNC	HGNC:29164	protein_coding	YES	CCDS53813.1	ENSP00000440207	Q9Y2I9		UPI000013F308	NM_015279.1	deleterious(0)		8/12		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF291,Superfamily_domains:SSF47923																	MODERATE	1	SNV	1			1										PASS		rs1483626358	.												T	3	4	31	64843425	64843425	G	T	1	0	0	0	0	1	0	0	0	16020	1348	47	2		2	TBC1D30	12	64843425	Missense_Mutation	SNP	G	C3L-02345_TP	7234845	64843425	68431884	154	9238											
ENOX1	0	.	GRCh38	chr13	43213999	43213999	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcttcgcagttaggtagtTttaattccttcaaaggcaca	10	14	8	9	1	2	0	1	0	1	0	4	0	3	0	1	2	0	6	1	2	4	7	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.1923A>G	p.=	p.K641K	ENST00000261488	17/17	86	65	21	94	94	0	strelka-varscan-mutect	ENOX1,synonymous_variant,p.=,ENST00000261488,NM_001242863.1,NM_017993.3,NM_001127615.1;	C	ENST00000261488	Transcript	synonymous_variant	2501/2982	1923/1932	641/643	K	aaA/aaG		1		-1	ENOX1	HGNC	HGNC:25474	protein_coding	YES	CCDS9389.1	ENSP00000261488	Q8TC92	A0A024RDT8	UPI0000071D6F	NM_001242863.1,NM_017993.3,NM_001127615.1			17/17		hmmpanther:PTHR16001,hmmpanther:PTHR16001:SF6																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	31	43213999	43213999	T	C	1	0	0	0	0	0	0	0	1	4971	1838	64	5		5	ENOX1	13	43213999	Silent	SNP	T	C3L-02345_TP		43213999	71150329	155	9239											
UGGT2	0	.	GRCh38	chr13	95902888	95902888	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttaattttatctccagagTaaatagctgtagcaatttct	12	18	5	6	0	2	1	0	0	2	1	3	1	2	1	1	0	2	4	1	0	7	8	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.2468A>C	p.Tyr823Ser	p.Y823S	ENST00000376747	21/39	215	173	42	270	270	0	strelka-varscan-mutect	UGGT2,missense_variant,p.Tyr823Ser,ENST00000376747,NM_020121.3;UGGT2,intron_variant,,ENST00000621375,;	G	ENST00000376747	Transcript	missense_variant	2539/4832	2468/4551	823/1516	Y/S	tAc/tCc		1		-1	UGGT2	HGNC	HGNC:15664	protein_coding	YES	CCDS9480.1	ENSP00000365938	Q9NYU1		UPI00001FC9AA	NM_020121.3	tolerated(0.5)		21/39		Pfam_domain:PF06427,hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	31	95902888	95902888	T	G	1	0	0	0	0	1	0	0	0	17467	1638	57	5		5	UGGT2	13	95902888	Missense_Mutation	SNP	T	C3L-02345_TP	52688889	95902888	18461440	156	9240											
ZIC5	0	.	GRCh38	chr13	99970914	99970914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaagagcgccgggccgccGctgccgtccgggcccgcgta	4	3	18	16	8	0	1	0	0	0	1	1	2	1	2	6	3	2	2	6	3	2	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.762C>A	p.Ser254Arg	p.S254R	ENST00000267294	1/2	80	64	16	52	52	0	strelka-varscan-mutect	ZIC5,missense_variant,p.Ser254Arg,ENST00000267294,NM_033132.3;	T	ENST00000267294	Transcript	missense_variant	996/4639	762/1992	254/663	S/R	agC/agA		1		-1	ZIC5	HGNC	HGNC:20322	protein_coding	YES	CCDS9494.2	ENSP00000267294	Q96T25		UPI0000458928	NM_033132.3	deleterious(0.03)		1/2		hmmpanther:PTHR19818																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	99970914	99970914	G	T	1	0	0	0	0	1	0	0	0	18260	1078	38	1		1	ZIC5	13	99970914	Missense_Mutation	SNP	G	C3L-02345_TP	4068026	99970914	14393414	157	9241											
CCDC168	0	.	GRCh38	chr13	102749316	102749316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaggcactgagctatataCagaatcctggttcaattctg	13	11	9	8	0	2	3	1	1	1	2	3	3	3	3	1	2	2	3	1	2	6	5	rs865995674		C3L-02345_TP	C3L-02345_NB	C	C																c.1381G>A	p.Val461Ile	p.V461I	ENST00000322527	4/4	226	195	31	289	289	0	strelka-varscan-mutect	CCDC168,missense_variant,p.Val461Ile,ENST00000322527,NM_001146197.1;LINC00283,downstream_gene_variant,,ENST00000430111,;	T	ENST00000322527	Transcript	missense_variant	1519/21466	1381/21246	461/7081	V/I	Gta/Ata	rs865995674	1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	tolerated(0.3)		4/4																			MODERATE	1	SNV	3			1										PASS		rs865995674	.												T	3	4	31	102749316	102749316	C	T	1	0	0	0	0	1	0	0	0	2484	478	17	3		3	CCDC168	13	102749316	Missense_Mutation	SNP	C	C3L-02345_TP	2778402	102749316	11615012	158	9242											
MYO16	0	.	GRCh38	chr13	109052337	109052337	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcaatcatttgttccagtcGaaattgtcacaaacaggatc	14	12	6	9	1	3	0	3	0	0	0	6	2	4	1	1	1	1	1	1	1	3	3	rs144060419		C3L-02345_TP	C3L-02345_NB	G	G																c.2910G>A	p.=	p.S970S	ENST00000457511	25/35	312	264	48	364	364	0	strelka-varscan-mutect	MYO16,synonymous_variant,p.=,ENST00000457511,NM_001198950.1;MYO16,synonymous_variant,p.=,ENST00000356711,NM_015011.1;MYO16,synonymous_variant,p.=,ENST00000357550,;MYO16,downstream_gene_variant,,ENST00000251041,;MYO16,non_coding_transcript_exon_variant,,ENST00000375857,;	A	ENST00000457511	Transcript	synonymous_variant	3532/7436	2910/5643	970/1880	S	tcG/tcA	rs144060419,COSM3467072,COSM945298	1		1	MYO16	HGNC	HGNC:29822	protein_coding	YES	CCDS73598.1	ENSP00000401633		F8W883	UPI00002375AE	NM_001198950.1			25/35		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,SMART_domains:SM00242,Superfamily_domains:SSF52540											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs144060419	.												A	2	1	31	109052337	109052337	G	A	1	0	0	0	0	0	0	0	1	10065	1045	37	1		1	MYO16	13	109052337	Silent	SNP	G	C3L-02345_TP	6303021	109052337	5311991	159	9243											
RIPK3	0	.	GRCh38	chr14	24336285	24336287	+	In_Frame_Del	DEL	CCG	CCG	-																															ctgcaagcccctccccttgcCcgaaggtgccaagccccatg																								novel		C3L-02345_TP	C3L-02345_NB	CCG	CCG																c.1445_1447delCGG	p.Ser482_Gly483delinsCys	p.S482_G483delinsC	ENST00000216274	10/10	198	165	33	235	235	0	sindel-varindel-pindel	RIPK3,inframe_deletion,p.Ser482_Gly483delinsCys,ENST00000216274,NM_006871.3;RP11-934B9.3,intron_variant,,ENST00000555591,;ADCY4,upstream_gene_variant,,ENST00000310677,NM_139247.3,NM_001198568.1,NM_001198592.1;ADCY4,upstream_gene_variant,,ENST00000554068,;ADCY4,upstream_gene_variant,,ENST00000418030,;RIPK3,downstream_gene_variant,,ENST00000554569,;ADCY4,upstream_gene_variant,,ENST00000559167,;ADCY4,upstream_gene_variant,,ENST00000561138,;ADCY4,upstream_gene_variant,,ENST00000558563,;RIPK3,downstream_gene_variant,,ENST00000554338,;ADCY4,upstream_gene_variant,,ENST00000558125,;RIPK3,3_prime_UTR_variant,,ENST00000554756,;ADCY4,upstream_gene_variant,,ENST00000554577,;ADCY4,upstream_gene_variant,,ENST00000557056,;ADCY4,upstream_gene_variant,,ENST00000554781,;RIPK3,downstream_gene_variant,,ENST00000557624,;ADCY4,upstream_gene_variant,,ENST00000557099,;ADCY4,upstream_gene_variant,,ENST00000554674,;RIPK3,downstream_gene_variant,,ENST00000557253,;RIPK3,downstream_gene_variant,,ENST00000557662,;	-	ENST00000216274	Transcript	inframe_deletion	1664-1666/1930	1445-1447/1557	482-483/518	SG/C	tCGGgc/tgc		1		-1	RIPK3	HGNC	HGNC:10021	protein_coding	YES	CCDS9628.1	ENSP00000216274	Q9Y572		UPI00000369E2	NM_006871.3			10/10		hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF496																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	31	24336285	24336285	CCG	-	1	0	1	0	1	0	0	0	0	13556	623	22	0		0	RIPK3	14	24336285	In_Frame_Del	DEL	CCG	C3L-02345_TP		24336285	82707433	160	9244											
AKAP6	0	.	GRCh38	chr14	32822984	32822984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcaggaagcgtctgactcGttcagtggctgatgaaagcg	9	10	14	8	3	3	3	2	3	1	0	4	4	3	4	0	2	2	3	0	2	2	2	rs748631841		C3L-02345_TP	C3L-02345_NB	G	G																c.5171G>A	p.Arg1724His	p.R1724H	ENST00000280979	13/14	243	213	30	354	352	2	strelka-varscan-mutect	AKAP6,missense_variant,p.Arg1724His,ENST00000280979,NM_004274.4;AKAP6,intron_variant,,ENST00000557272,;	A	ENST00000280979	Transcript	missense_variant	5341/15006	5171/6960	1724/2319	R/H	cGt/cAt	rs748631841,COSM368592	1		1	AKAP6	HGNC	HGNC:376	protein_coding	YES	CCDS9644.1	ENSP00000280979	Q13023		UPI000013DC48	NM_004274.4	tolerated(0.26)		13/14		hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs748631841	.												A	3	1	31	32822984	32822984	G	A	1	0	0	0	0	1	0	0	0	539	1145	40	1		1	AKAP6	14	32822984	Missense_Mutation	SNP	G	C3L-02345_TP	8486699	32822984	74220734	161	9245											
FBXO34	0	.	GRCh38	chr14	55352419	55352419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcagaaaggattccctGgctgtaagctggggcttcat	8	11	13	9	0	2	1	2	0	1	1	4	2	3	2	1	5	1	4	1	5	2	3	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.2029G>T	p.Gly677Cys	p.G677C	ENST00000313833	2/2	162	130	32	205	205	0	strelka-varscan-mutect	FBXO34,missense_variant,p.Gly677Cys,ENST00000313833,NM_017943.3;FBXO34,missense_variant,p.Gly677Cys,ENST00000440021,NM_152231.1;FBXO34,intron_variant,,ENST00000557647,;FBXO34,downstream_gene_variant,,ENST00000555087,;FBXO34,downstream_gene_variant,,ENST00000554940,;FBXO34,missense_variant,p.Gly543Cys,ENST00000555280,;	T	ENST00000313833	Transcript	missense_variant	2274/3464	2029/2136	677/711	G/C	Ggc/Tgc		1		1	FBXO34	HGNC	HGNC:20201	protein_coding	YES	CCDS32086.1	ENSP00000313159	Q9NWN3	A0A024R653	UPI00001FD5AD	NM_017943.3	deleterious(0)		2/2		hmmpanther:PTHR16271,hmmpanther:PTHR16271:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	55352419	55352419	G	T	1	0	0	0	0	1	0	0	0	5607	1348	47	2		2	FBXO34	14	55352419	Missense_Mutation	SNP	G	C3L-02345_TP	22529435	55352419	51691299	162	9246											
GPHB5	0	.	GRCh38	chr14	63312958	63312958	+	Frame_Shift_Del	DEL	G	G	-																															tcacactccgtggtggcagtGgagcaggctccgcagtcaca																								novel		C3L-02345_TP	C3L-02345_NB	G	G																c.363delC	p.Thr122LeufsTer?	p.T122Lfs*?	ENST00000621500	3/3	109	92	17	123	123	0	sindel-varindel-pindel	GPHB5,frameshift_variant,p.Thr122LeufsTer?,ENST00000621500,NM_145171.3;GPHB5,frameshift_variant,p.Thr122LeufsTer?,ENST00000314140,;	-	ENST00000621500	Transcript	frameshift_variant	420/543	363/393	121/130	S/X	tcC/tc		1		-1	GPHB5	HGNC	HGNC:18055	protein_coding	YES	CCDS73643.1	ENSP00000478993	Q86YW7	A0A0F7RPU1	UPI000000D7AF	NM_145171.3			3/3		Gene3D:2.10.90.10,Pfam_domain:PF00007,hmmpanther:PTHR11515,hmmpanther:PTHR11515:SF14,SMART_domains:SM00068,Superfamily_domains:SSF57501																	HIGH	1	deletion	3			1										PASS		.	.												-	7	5	31	63312958	63312958	G	-	1	0	1	0	1	0	0	0	0	6511	1335	47	0		0	GPHB5	14	63312958	Frame_Shift_Del	DEL	G	C3L-02345_TP	7960539	63312958	43730760	163	9247											
SPTB	0	.	GRCh38	chr14	64774401	64774401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagggggcgcacgcacccctCagggtggcctgcagacagca	8	3	15	15	2	1	1	1	0	0	1	1	1	1	1	3	4	2	4	3	4	0	0	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.4969G>A	p.Glu1657Lys	p.E1657K	ENST00000556626	24/36	133	126	7	157	157	0	strelka-mutect	SPTB,missense_variant,p.Glu1657Lys,ENST00000556626,;SPTB,missense_variant,p.Glu1657Lys,ENST00000389722,NM_001024858.2;SPTB,missense_variant,p.Glu1657Lys,ENST00000389721,NM_000347.5;SPTB,missense_variant,p.Glu1657Lys,ENST00000389720,;SPTB,missense_variant,p.Glu322Lys,ENST00000553938,;	T	ENST00000556626	Transcript	missense_variant	5112/10153	4969/6987	1657/2328	E/K	Gag/Aag		1		-1	SPTB	HGNC	HGNC:11274	protein_coding	YES	CCDS32099.1	ENSP00000451752	P11277		UPI000053030D		tolerated(0.07)		24/36		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF248,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	64774401	64774401	C	T	1	0	0	0	0	1	0	0	0	15474	840	29	3		3	SPTB	14	64774401	Missense_Mutation	SNP	C	C3L-02345_TP	1461443	64774401	42269317	164	9248											
ASB2	0	.	GRCh38	chr14	93953431	93953431	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgacaggagacagtcCaggtggcccctgcacgttgc	9	6	14	12	1	0	2	0	1	0	1	1	3	1	2	3	3	3	3	3	3	0	1	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.555G>T	p.=	p.L185L	ENST00000555019	5/10	87	73	14	86	86	0	strelka-varscan-mutect	ASB2,synonymous_variant,p.=,ENST00000555019,NM_001202429.1;ASB2,synonymous_variant,p.=,ENST00000315988,NM_016150.4;ASB2,synonymous_variant,p.=,ENST00000555507,;ASB2,synonymous_variant,p.=,ENST00000555287,;ASB2,intron_variant,,ENST00000556062,;ASB2,downstream_gene_variant,,ENST00000557613,;ASB2,intron_variant,,ENST00000556337,;ASB2,downstream_gene_variant,,ENST00000556793,;	A	ENST00000555019	Transcript	synonymous_variant	986/2842	555/1908	185/635	L	ctG/ctT		1		-1	ASB2	HGNC	HGNC:16012	protein_coding	YES	CCDS55940.1	ENSP00000451575	Q96Q27	A0A024R6E7	UPI000013D23C	NM_001202429.1			5/10		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF33,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	31	93953431	93953431	C	A	1	0	0	0	0	0	0	0	1	1165	581	21	2		2	ASB2	14	93953431	Silent	SNP	C	C3L-02345_TP	29179030	93953431	13090287	165	9249											
BCL11B	0	.	GRCh38	chr14	99257741	99257741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccacaggtgagcaggtcagGgtcggggccacccaccatca	9	4	14	14	1	2	1	2	1	0	0	3	1	2	1	4	5	1	1	4	5	0	0	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.157C>A	p.Pro53Thr	p.P53T	ENST00000357195	2/4	41	33	8	58	57	1	strelka-varscan-mutect	BCL11B,missense_variant,p.Pro53Thr,ENST00000345514,NM_001282238.1,NM_022898.2;BCL11B,missense_variant,p.Pro53Thr,ENST00000357195,NM_001282237.1,NM_138576.3;BCL11B,intron_variant,,ENST00000443726,;	T	ENST00000357195	Transcript	missense_variant	167/7559	157/2685	53/894	P/T	Cct/Act		1		-1	BCL11B	HGNC	HGNC:13222	protein_coding	YES	CCDS9950.1	ENSP00000349723	Q9C0K0	L8B7P7	UPI000006E083	NM_001282237.1,NM_138576.3	tolerated(0.21)		2/4		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	99257741	99257741	G	T	1	0	0	0	0	1	0	0	0	1511	1232	43	2		2	BCL11B	14	99257741	Missense_Mutation	SNP	G	C3L-02345_TP	5304310	99257741	7785977	166	9250											
NPAP1	0	.	GRCh38	chr15	24676814	24676814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattcctccaaggagcgctgCtcctcccagagctgcccgca	7	8	9	17	2	0	1	0	0	0	1	4	2	4	2	5	1	4	4	5	1	2	2	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.947C>A	p.Ala316Asp	p.A316D	ENST00000329468	1/1	102	89	13	134	134	0	strelka-varscan-mutect	NPAP1,missense_variant,p.Ala316Asp,ENST00000329468,NM_018958.2;	A	ENST00000329468	Transcript	missense_variant	947/7526	947/3471	316/1156	A/D	gCt/gAt		1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2	tolerated(0.11)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15,Pfam_domain:PF15229																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	31	24676814	24676814	C	A	1	0	0	0	0	1	0	0	0	10609	797	28	2		2	NPAP1	15	24676814	Missense_Mutation	SNP	C	C3L-02345_TP		24676814	77314375	167	9251											
HERC2	0	.	GRCh38	chr15	28256282	28256282	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagacctaaaccaaggaaTtccgggtcaacctggtgact	12	7	9	13	1	1	2	1	1	0	1	2	3	2	3	5	3	2	0	5	3	5	2	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.2553A>G	p.=	p.E851E	ENST00000261609	18/93	159	127	32	200	200	0	strelka-varscan-mutect	HERC2,synonymous_variant,p.=,ENST00000261609,NM_004667.5;HERC2,3_prime_UTR_variant,,ENST00000564734,;	C	ENST00000261609	Transcript	synonymous_variant	2662/15337	2553/14505	851/4834	E	gaA/gaG		1		-1	HERC2	HGNC	HGNC:4868	protein_coding	YES	CCDS10021.1	ENSP00000261609	O95714		UPI00004578F7	NM_004667.5			18/93		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF325																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	31	28256282	28256282	T	C	1	0	0	0	0	0	0	0	1	6942	1490	52	5		5	HERC2	15	28256282	Silent	SNP	T	C3L-02345_TP	3579468	28256282	73734907	168	9252											
GOLGA8F	0	.	GRCh38	chr15	28385290	28385290	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggcttcgggagcaggAggagaggcttcaggagcagc	10	4	20	7	1	1	2	1	0	0	2	2	7	1	5	0	7	3	4	0	7	0	2	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.1079A>T	p.Glu360Val	p.E360V	ENST00000532622	12/19	173	159	14	172	172	0	varscan-mutect	GOLGA8F,missense_variant,p.Glu142Val,ENST00000526619,;GOLGA8F,missense_variant,p.Glu360Val,ENST00000532622,;RN7SL238P,upstream_gene_variant,,ENST00000613832,;GOLGA8F,downstream_gene_variant,,ENST00000568250,;GOLGA8F,downstream_gene_variant,,ENST00000568913,;GOLGA8F,downstream_gene_variant,,ENST00000565126,;GOLGA8F,downstream_gene_variant,,ENST00000564114,;	T	ENST00000532622	Transcript	missense_variant	1141/2009	1079/1947	360/648	E/V	gAg/gTg		1		1	GOLGA8F	HGNC	HGNC:32378	protein_coding	YES		ENSP00000454322		H3BMC3	UPI00024672FE		deleterious(0)		12/19		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10881:SF48,hmmpanther:PTHR10881,Pfam_domain:PF15070																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	31	28385290	28385290	A	T	1	0	0	0	0	1	0	0	0	6449	304	11	4		4	GOLGA8F	15	28385290	Missense_Mutation	SNP	A	C3L-02345_TP	129008	28385290	73605899	169	9253											
RYR3	0	.	GRCh38	chr15	33750018	33750018	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaactatcacaatatcTgggccaagaagaagaagctg	16	7	10	8	0	2	4	1	1	1	4	2	5	2	4	1	1	2	1	1	1	8	2	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.8239T>A	p.Trp2747Arg	p.W2747R	ENST00000634891	56/104	216	187	29	282	282	0	strelka-varscan-mutect	RYR3,missense_variant,p.Trp2747Arg,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Trp2747Arg,ENST00000622037,;RYR3,missense_variant,p.Trp2747Arg,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Trp2746Arg,ENST00000389232,;RYR3,missense_variant,p.Trp2746Arg,ENST00000634418,;RYR3,missense_variant,p.Trp452Arg,ENST00000635790,;	A	ENST00000634891	Transcript	missense_variant	8340/15591	8239/14613	2747/4870	W/R	Tgg/Agg		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	deleterious(0)		56/104		Pfam_domain:PF02026,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	33750018	33750018	T	A	1	0	0	0	0	1	0	0	0	14030	1580	55	4		4	RYR3	15	33750018	Missense_Mutation	SNP	T	C3L-02345_TP	5364728	33750018	68241171	170	9254											
MEIS2	0	.	GRCh38	chr15	36895200	36895200	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccaacacaaagctcccCatgggctgaccctctggact	10	7	7	17	0	1	1	0	1	1	0	3	2	3	2	5	2	2	2	5	2	2	0	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1098G>T	p.Met366Ile	p.M366I	ENST00000561208	11/12	193	143	50	234	234	0	strelka-varscan-mutect	MEIS2,missense_variant,p.Met359Ile,ENST00000338564,NM_001220482.1,NM_170676.4;MEIS2,missense_variant,p.Met366Ile,ENST00000561208,NM_170675.4;MEIS2,missense_variant,p.Met346Ile,ENST00000340545,NM_002399.3;MEIS2,missense_variant,p.Met366Ile,ENST00000424352,NM_170677.4;MEIS2,missense_variant,p.Met271Ile,ENST00000397624,;MEIS2,missense_variant,p.Met346Ile,ENST00000557796,;MEIS2,missense_variant,p.Met353Ile,ENST00000559085,NM_172315.2;MEIS2,missense_variant,p.Met271Ile,ENST00000397620,NM_172316.2;MEIS2,missense_variant,p.Met359Ile,ENST00000559561,NM_170674.4;MEIS2,missense_variant,p.Met218Ile,ENST00000607277,;MEIS2,non_coding_transcript_exon_variant,,ENST00000559408,;MEIS2,3_prime_UTR_variant,,ENST00000314177,;MEIS2,3_prime_UTR_variant,,ENST00000560570,;MEIS2,non_coding_transcript_exon_variant,,ENST00000560702,;MEIS2,non_coding_transcript_exon_variant,,ENST00000558643,;MEIS2,non_coding_transcript_exon_variant,,ENST00000559371,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561284,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561264,;MEIS2,non_coding_transcript_exon_variant,,ENST00000557992,;MEIS2,non_coding_transcript_exon_variant,,ENST00000559972,;	A	ENST00000561208	Transcript	missense_variant	1517/4822	1098/1434	366/477	M/I	atG/atT		1		-1	MEIS2	HGNC	HGNC:7001	protein_coding	YES	CCDS10044.1	ENSP00000453793	O14770		UPI000012EEBC	NM_170675.4	tolerated(0.11)		11/12		hmmpanther:PTHR11850:SF47,hmmpanther:PTHR11850																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	36895200	36895200	C	A	1	0	0	0	0	1	0	0	0	9412	594	21	2		2	MEIS2	15	36895200	Missense_Mutation	SNP	C	C3L-02345_TP	3145182	36895200	65095989	171	9255											
TP53BP1	0	.	GRCh38	chr15	43456567	43456567	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctttgagttcctctcCttgactttcacaaggtgtct	5	19	6	11	0	5	2	1	2	4	0	7	2	6	2	2	1	0	1	2	1	1	6	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.2041G>T	p.Gly681Ter	p.G681*	ENST00000382044	12/28	79	57	22	135	134	1	varscan-mutect	TP53BP1,stop_gained,p.Gly681Ter,ENST00000382044,NM_001141980.1;TP53BP1,stop_gained,p.Gly676Ter,ENST00000263801,NM_005657.2;TP53BP1,stop_gained,p.Gly681Ter,ENST00000450115,NM_001141979.1;TP53BP1,stop_gained,p.Gly681Ter,ENST00000382039,;TP53BP1,stop_gained,p.Gly681Ter,ENST00000413546,;TP53BP1,upstream_gene_variant,,ENST00000605155,;TP53BP1,upstream_gene_variant,,ENST00000414758,;TP53BP1,non_coding_transcript_exon_variant,,ENST00000572085,;TP53BP1,upstream_gene_variant,,ENST00000411772,;TP53BP1,upstream_gene_variant,,ENST00000480860,;	A	ENST00000382044	Transcript	stop_gained	2169/10384	2041/5934	681/1977	G/*	Gga/Tga		1		-1	TP53BP1	HGNC	HGNC:11999	protein_coding	YES	CCDS45250.1	ENSP00000371475	Q12888		UPI0000D720ED	NM_001141980.1			12/28		hmmpanther:PTHR15321,hmmpanther:PTHR15321:SF3																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	31	43456567	43456567	C	A	1	0	0	0	0	0	1	0	0	16861	690	24	2		2	TP53BP1	15	43456567	Nonsense_Mutation	SNP	C	C3L-02345_TP	6561367	43456567	58534622	172	9256											
ATP8B4	0	.	GRCh38	chr15	49862344	49862344	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagaattacaagccagatGcacttctgggtcagggaatg	14	8	12	7	0	2	2	1	0	1	2	2	4	2	3	1	2	3	1	1	2	5	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.3198C>T	p.=	p.C1066C	ENST00000284509	27/28	145	110	35	194	194	0	strelka-varscan-mutect	ATP8B4,synonymous_variant,p.=,ENST00000284509,NM_024837.3;ATP8B4,synonymous_variant,p.=,ENST00000559829,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000558498,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000560479,;ATP8B4,3_prime_UTR_variant,,ENST00000559726,;ATP8B4,3_prime_UTR_variant,,ENST00000558906,;ATP8B4,3_prime_UTR_variant,,ENST00000557955,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000558203,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000560354,;	A	ENST00000284509	Transcript	synonymous_variant	3340/5676	3198/3579	1066/1192	C	tgC/tgT		1		-1	ATP8B4	HGNC	HGNC:13536	protein_coding	YES	CCDS32238.1	ENSP00000284509	Q8TF62		UPI0000055904	NM_024837.3			27/28		Transmembrane_helices:TMhelix,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF80,Pfam_domain:PF16212,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	31	49862344	49862344	G	A	1	0	0	0	0	0	0	0	1	1350	1311	46	3		3	ATP8B4	15	49862344	Silent	SNP	G	C3L-02345_TP	6405777	49862344	52128845	173	9257											
GOLGA6B	0	.	GRCh38	chr15	72661546	72661546	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccggtggcaggagaggAtgtggaaaatgtcggtggag	9	6	21	5	2	0	1	0	0	0	1	1	5	0	4	1	8	0	1	1	8	2	0	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.739A>G	p.Met247Val	p.M247V	ENST00000421285	9/18	31	23	8	73	73	0	varscan-mutect	GOLGA6B,missense_variant,p.Met247Val,ENST00000421285,NM_018652.4;RN7SL853P,upstream_gene_variant,,ENST00000617250,;GOLGA6B,downstream_gene_variant,,ENST00000568532,;	G	ENST00000421285	Transcript	missense_variant	739/2134	739/2082	247/693	M/V	Atg/Gtg		1		1	GOLGA6B	HGNC	HGNC:32205	protein_coding	YES	CCDS10245.2	ENSP00000408132	A6NDN3		UPI0000D74C4D	NM_018652.4	deleterious(0.02)		9/18		Pfam_domain:PF15070,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF47																	MODERATE	1	SNV	1			1										PASS		rs1386609036	.												G	3	3	31	72661546	72661546	A	G	1	0	0	0	0	1	0	0	0	6436	333	12	5		5	GOLGA6B	15	72661546	Missense_Mutation	SNP	A	C3L-02345_TP	22799202	72661546	29329643	174	9258											
ACAN	0	.	GRCh38	chr15	88843611	88843611	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaccagacgggctacccCgacccctcatcccgctacga	9	4	8	20	4	1	1	1	0	0	1	2	3	2	1	7	1	3	2	7	1	3	2	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1014C>A	p.=	p.P338P	ENST00000439576	6/18	51	37	14	63	63	0	strelka-varscan-mutect	ACAN,synonymous_variant,p.=,ENST00000439576,NM_013227.3;ACAN,synonymous_variant,p.=,ENST00000617301,;ACAN,synonymous_variant,p.=,ENST00000559004,;ACAN,synonymous_variant,p.=,ENST00000561243,;ACAN,synonymous_variant,p.=,ENST00000352105,NM_001135.3;ACAN,synonymous_variant,p.=,ENST00000558207,;	A	ENST00000439576	Transcript	synonymous_variant	1388/8840	1014/7593	338/2530	P	ccC/ccA		1		1	ACAN	HGNC	HGNC:319	protein_coding	YES	CCDS53970.1	ENSP00000387356		E7EX88	UPI0001B23381	NM_013227.3			6/18		PROSITE_profiles:PS50963,hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436																	LOW	1	SNV	5			1										PASS		rs1236933263	.												A	2	1	31	88843611	88843611	C	A	1	0	0	0	0	0	0	0	1	160	639	23	1		1	ACAN	15	88843611	Silent	SNP	C	C3L-02345_TP	16182065	88843611	13147578	175	9259											
ACAN	0	.	GRCh38	chr15	88859063	88859063	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacatttcaagaaggcGaggcgtccgctgccccagaa	10	8	11	12	3	1	3	1	1	0	2	2	4	2	3	3	2	1	1	3	2	3	2	rs373460432		C3L-02345_TP	C3L-02345_NB	G	G																c.6478G>T	p.Glu2160Ter	p.E2160*	ENST00000439576	12/18	255	203	52	258	258	0	strelka-varscan-mutect	ACAN,stop_gained,p.Glu2160Ter,ENST00000439576,NM_013227.3;ACAN,stop_gained,p.Glu2141Ter,ENST00000617301,;ACAN,stop_gained,p.Glu2160Ter,ENST00000559004,;ACAN,stop_gained,p.Glu2160Ter,ENST00000561243,;ACAN,stop_gained,p.Glu2160Ter,ENST00000352105,NM_001135.3;ACAN,upstream_gene_variant,,ENST00000560601,;	T	ENST00000439576	Transcript	stop_gained	6852/8840	6478/7593	2160/2530	E/*	Gag/Tag	rs373460432	1		1	ACAN	HGNC	HGNC:319	protein_coding	YES	CCDS53970.1	ENSP00000387356		E7EX88	UPI0001B23381	NM_013227.3			12/18		hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804																	HIGH	1	SNV	5			1										PASS		rs373460432	.												T	4	4	31	88859063	88859063	G	T	1	0	0	0	0	0	1	0	0	160	1059	37	1		1	ACAN	15	88859063	Nonsense_Mutation	SNP	G	C3L-02345_TP	15452	88859063	13132126	176	9260											
GP2	0	.	GRCh38	chr16	20323994	20323994	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgggtcccattcagccaCatgggagcgtctgtctggca	6	9	15	11	1	3	0	1	0	2	0	4	1	4	1	2	4	2	1	2	4	0	1	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.357G>T	p.Met119Ile	p.M119I	ENST00000381362	3/12	195	160	35	253	253	0	strelka-varscan-mutect	GP2,missense_variant,p.Met119Ile,ENST00000302555,NM_001502.3;GP2,missense_variant,p.Met119Ile,ENST00000381362,NM_001007240.2;GP2,missense_variant,p.Met31Ile,ENST00000572347,;GP2,missense_variant,p.Met119Ile,ENST00000575449,;GP2,missense_variant,p.Met54Ile,ENST00000572478,;GP2,intron_variant,,ENST00000381360,NM_001007241.2;GP2,intron_variant,,ENST00000341642,NM_001007242.2;GP2,intron_variant,,ENST00000575582,;GP2,upstream_gene_variant,,ENST00000573897,;GP2,downstream_gene_variant,,ENST00000575730,;GP2,intron_variant,,ENST00000574982,;	A	ENST00000381362	Transcript	missense_variant	434/2425	357/1614	119/537	M/I	atG/atT		1		-1	GP2	HGNC	HGNC:4441	protein_coding	YES	CCDS42128.1	ENSP00000370767	P55259		UPI000059D333	NM_001007240.2	deleterious(0.01)		3/12		hmmpanther:PTHR24044:SF284,hmmpanther:PTHR24044																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	20323994	20323994	C	A	1	0	0	0	0	1	0	0	0	6477	478	17	2		2	GP2	16	20323994	Missense_Mutation	SNP	C	C3L-02345_TP		20323994	70014351	177	9261											
OTOA	0	.	GRCh38	chr16	21716953	21716953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcatcgtggagatacaagGggctttctttaaggaagtgt	11	11	14	5	1	1	1	0	0	1	1	2	3	1	2	0	5	1	2	0	5	4	4	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1535G>A	p.Gly512Glu	p.G512E	ENST00000388958	14/28	315	253	62	395	394	1	strelka-varscan-mutect	OTOA,missense_variant,p.Gly512Glu,ENST00000388958,NM_144672.3;OTOA,missense_variant,p.Gly526Glu,ENST00000286149,;OTOA,missense_variant,p.Gly433Glu,ENST00000388956,NM_001161683.1;OTOA,missense_variant,p.Gly188Glu,ENST00000388957,NM_170664.2;OTOA,non_coding_transcript_exon_variant,,ENST00000563871,;	A	ENST00000388958	Transcript	missense_variant	1536/3610	1535/3420	512/1139	G/E	gGg/gAg		1		1	OTOA	HGNC	HGNC:16378	protein_coding	YES	CCDS10600.2	ENSP00000373610	Q7RTW8		UPI00005C8607	NM_144672.3	tolerated(0.08)		14/28		hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF18																	MODERATE	1	SNV	1			1										PASS		rs1418508879	.												A	3	1	31	21716953	21716953	G	A	1	0	0	0	0	1	0	0	0	11368	1232	43	3		3	OTOA	16	21716953	Missense_Mutation	SNP	G	C3L-02345_TP	1392959	21716953	68621392	178	9262											
VWA3A	0	.	GRCh38	chr16	22152561	22152561	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccttcaccggcggacgctAtcactgccctgtgggtgagg	5	10	13	13	3	2	1	2	1	0	0	3	2	3	2	3	4	1	1	3	4	1	3	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.3332A>T	p.Tyr1111Phe	p.Y1111F	ENST00000389398	31/34	327	266	61	316	316	0	strelka-varscan-mutect	VWA3A,missense_variant,p.Tyr1111Phe,ENST00000389398,NM_173615.4;VWA3A,missense_variant,p.Tyr213Phe,ENST00000563755,;VWA3A,3_prime_UTR_variant,,ENST00000299840,;	T	ENST00000389398	Transcript	missense_variant	3428/4600	3332/3555	1111/1184	Y/F	tAt/tTt		1		1	VWA3A	HGNC	HGNC:27088	protein_coding	YES	CCDS45441.1	ENSP00000374049	A6NCI4		UPI0001663067	NM_173615.4	tolerated(0.23)		31/34		PROSITE_profiles:PS50234,Pfam_domain:PF13768,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	31	22152561	22152561	A	T	1	0	0	0	0	1	0	0	0	17794	449	16	4		4	VWA3A	16	22152561	Missense_Mutation	SNP	A	C3L-02345_TP	435608	22152561	68185784	179	9263											
C16orf82	0	.	GRCh38	chr16	27067269	27067269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctgagcagcgggtacGcaggggacaaggagggcagc	10	2	18	11	2	0	1	0	1	0	0	0	3	0	3	2	5	5	4	2	5	2	1	rs765348127		C3L-02345_TP	C3L-02345_NB	G	G																c.463G>T	p.Ala155Ser	p.A155S	ENST00000505035	1/1	253	200	53	303	303	0	strelka-varscan-mutect	C16orf82,missense_variant,p.Ala155Ser,ENST00000505035,;C16orf82,missense_variant,p.Ala92Ser,ENST00000418886,NM_001145545.1;RP11-673P17.2,intron_variant,,ENST00000565783,;	T	ENST00000505035	Transcript	missense_variant	563/2459	463/654	155/217	A/S	Gca/Tca	rs765348127	1		1	C16orf82	HGNC	HGNC:30755	protein_coding	YES		ENSP00000489874	Q7Z2V1		UPI00001B3F63		tolerated(0.21)		1/1		Pfam_domain:PF15765,hmmpanther:PTHR40139,hmmpanther:PTHR40139:SF1																	MODERATE		SNV				1										PASS		rs765348127	.												T	3	4	31	27067269	27067269	G	T	1	0	0	0	0	1	0	0	0	1867	1087	38	1		1	C16orf82	16	27067269	Missense_Mutation	SNP	G	C3L-02345_TP	4914708	27067269	63271076	180	9264											
GTF3C1	0	.	GRCh38	chr16	27537872	27537872	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgggactgcattgtaaTcagcccgtttttgttcaaaa	11	13	8	9	1	2	0	2	0	0	0	2	1	2	1	1	1	2	4	1	1	3	5	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.664A>T	p.Ile222Phe	p.I222F	ENST00000356183	4/37	206	160	46	221	221	0	strelka-varscan-mutect	GTF3C1,missense_variant,p.Ile222Phe,ENST00000356183,NM_001520.3;GTF3C1,missense_variant,p.Ile222Phe,ENST00000561623,NM_001286242.1;	A	ENST00000356183	Transcript	missense_variant	680/7018	664/6330	222/2109	I/F	Att/Ttt		1		-1	GTF3C1	HGNC	HGNC:4664	protein_coding	YES	CCDS32414.1	ENSP00000348510	Q12789		UPI00001FF123	NM_001520.3	deleterious(0)		4/37		Pfam_domain:PF04182,hmmpanther:PTHR15180,hmmpanther:PTHR15180:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	27537872	27537872	T	A	1	0	0	0	0	1	0	0	0	6753	1435	50	4		4	GTF3C1	16	27537872	Missense_Mutation	SNP	T	C3L-02345_TP	470603	27537872	62800473	181	9265											
FUS	0	.	GRCh38	chr16	31188333	31188333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtcactaaaggccctcggGaccaaggatcacgtcatgac	12	7	10	12	2	3	1	3	1	0	0	4	3	3	3	2	3	0	0	2	3	3	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.808G>T	p.Asp270Tyr	p.D270Y	ENST00000254108	8/15	247	196	51	246	245	1	strelka-varscan-mutect	FUS,missense_variant,p.Asp270Tyr,ENST00000254108,NM_004960.3,NM_001170937.1;FUS,missense_variant,p.Asp269Tyr,ENST00000380244,NM_001170634.1;FUS,missense_variant,p.Asp270Tyr,ENST00000568685,;FUS,non_coding_transcript_exon_variant,,ENST00000474990,;FUS,missense_variant,p.Gly258Val,ENST00000566605,;FUS,non_coding_transcript_exon_variant,,ENST00000487509,;FUS,non_coding_transcript_exon_variant,,ENST00000568901,;FUS,downstream_gene_variant,,ENST00000487045,;FUS,upstream_gene_variant,,ENST00000564766,;FUS,upstream_gene_variant,,ENST00000483853,;FUS,downstream_gene_variant,,ENST00000487974,;FUS,upstream_gene_variant,,ENST00000569760,;FUS,downstream_gene_variant,,ENST00000570090,;	T	ENST00000254108	Transcript	missense_variant	913/5119	808/1581	270/526	D/Y	Gac/Tac		1		1	FUS	HGNC	HGNC:4010	protein_coding	YES	CCDS10707.1	ENSP00000254108	P35637	Q6IBQ5	UPI000012AD9A	NM_004960.3,NM_001170937.1	deleterious(0)		8/15		Gene3D:3.30.70.330,hmmpanther:PTHR23238,hmmpanther:PTHR23238:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	31188333	31188333	G	T	1	0	0	0	0	1	0	0	0	5972	1174	41	2		2	FUS	16	31188333	Missense_Mutation	SNP	G	C3L-02345_TP	3650461	31188333	59150012	182	9266											
CYLD	0	.	GRCh38	chr16	50751662	50751662	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggaaacagctttttcAgtgtgatgaagattgtggcg	11	11	13	6	1	1	3	1	2	0	1	1	4	1	4	1	2	2	1	1	2	3	3	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.563A>T	p.Gln188Leu	p.Q188L	ENST00000427738	3/18	210	150	60	228	227	1	strelka-varscan-mutect	CYLD,missense_variant,p.Gln188Leu,ENST00000427738,;CYLD,missense_variant,p.Gln188Leu,ENST00000311559,NM_015247.2;CYLD,missense_variant,p.Gln188Leu,ENST00000398568,NM_001042412.1;CYLD,missense_variant,p.Gln188Leu,ENST00000569418,NM_001042355.1;CYLD,missense_variant,p.Gln188Leu,ENST00000568704,;CYLD,missense_variant,p.Gln188Leu,ENST00000564326,;CYLD,missense_variant,p.Gln188Leu,ENST00000566206,;CYLD,missense_variant,p.Gln188Leu,ENST00000566679,;CYLD,downstream_gene_variant,,ENST00000569681,;CYLD,downstream_gene_variant,,ENST00000564634,;CYLD,non_coding_transcript_exon_variant,,ENST00000569891,;CYLD,non_coding_transcript_exon_variant,,ENST00000563629,;	T	ENST00000427738	Transcript	missense_variant	768/8503	563/2871	188/956	Q/L	cAg/cTg		1		1	CYLD	HGNC	HGNC:2584	protein_coding	YES	CCDS45482.1	ENSP00000392025	Q9NQC7		UPI0000073A15		tolerated(0.12)		3/18		PROSITE_profiles:PS50245,hmmpanther:PTHR11830:SF3,hmmpanther:PTHR11830,Pfam_domain:PF01302,Gene3D:2.30.30.190,SMART_domains:SM01052,Superfamily_domains:SSF74924																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	31	50751662	50751662	A	T	1	0	0	0	0	1	0	0	0	3946	188	7	4		4	CYLD	16	50751662	Missense_Mutation	SNP	A	C3L-02345_TP	19563329	50751662	39586683	183	9267											
ZFHX3	0	.	GRCh38	chr16	72950750	72950750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtatgagtcccccatcaCcgccttccactcgtcctccg	5	10	7	19	3	1	1	1	1	0	0	6	1	5	1	7	1	0	1	7	1	1	2	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.2935G>T	p.Val979Leu	p.V979L	ENST00000268489	3/10	205	158	47	245	245	0	strelka-varscan-mutect	ZFHX3,missense_variant,p.Val979Leu,ENST00000268489,NM_006885.3;ZFHX3,missense_variant,p.Val65Leu,ENST00000397992,NM_001164766.1;	A	ENST00000268489	Transcript	missense_variant	3608/16064	2935/11112	979/3703	V/L	Gtg/Ttg		1		-1	ZFHX3	HGNC	HGNC:777	protein_coding	YES	CCDS10908.1	ENSP00000268489	Q15911		UPI00001AE937	NM_006885.3	tolerated(0.18)		3/10		hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	72950750	72950750	C	A	1	0	0	0	0	1	0	0	0	18212	507	18	2		2	ZFHX3	16	72950750	Missense_Mutation	SNP	C	C3L-02345_TP	22199088	72950750	17387595	184	9268											
TCF25	0	.	GRCh38	chr16	89887709	89887709	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgcccgggcaatcctgggGgagcaaaggtaaggtccaca	10	5	16	10	1	0	0	0	0	0	0	2	1	2	1	3	6	2	3	3	6	3	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.606G>C	p.=	p.G202G	ENST00000263346	5/18	68	62	6	80	80	0	strelka-varscan-mutect	TCF25,synonymous_variant,p.=,ENST00000263346,NM_014972.2;TCF25,synonymous_variant,p.=,ENST00000614813,;TCF25,synonymous_variant,p.=,ENST00000562256,;TCF25,synonymous_variant,p.=,ENST00000568409,;TCF25,5_prime_UTR_variant,,ENST00000263347,;TCF25,intron_variant,,ENST00000568412,;TCF25,intron_variant,,ENST00000561958,;TCF25,intron_variant,,ENST00000565196,;TCF25,downstream_gene_variant,,ENST00000565404,;TCF25,non_coding_transcript_exon_variant,,ENST00000566751,;TCF25,downstream_gene_variant,,ENST00000563406,;TCF25,3_prime_UTR_variant,,ENST00000564652,;TCF25,downstream_gene_variant,,ENST00000561585,;TCF25,upstream_gene_variant,,ENST00000568870,;	C	ENST00000263346	Transcript	synonymous_variant	662/2233	606/2031	202/676	G	ggG/ggC		1		1	TCF25	HGNC	HGNC:29181	protein_coding	YES	CCDS10987.1	ENSP00000263346	Q9BQ70		UPI000012A80B	NM_014972.2			5/18		hmmpanther:PTHR22684,hmmpanther:PTHR22684:SF0																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	31	89887709	89887709	G	C	1	0	0	0	0	0	0	0	1	16100	1219	43	4		4	TCF25	16	89887709	Silent	SNP	G	C3L-02345_TP	16936959	89887709	450636	185	9269											
OR1E2	0	.	GRCh38	chr17	3433720	3433720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacaatgatgaggaggttcCccaggagggtggtaagatac	12	7	16	6	0	0	3	0	2	0	1	1	6	1	6	2	6	1	2	2	6	3	3			C3L-02345_TP	C3L-02345_NB	C	C																c.122G>A	p.Gly41Glu	p.G41E	ENST00000248384	1/1	249	198	51	291	291	0	strelka-varscan-mutect	OR1E2,missense_variant,p.Gly41Glu,ENST00000248384,NM_003554.2;	T	ENST00000248384	Transcript	missense_variant	122/972	122/972	41/323	G/E	gGg/gAg	COSM1743972	1		-1	OR1E2	HGNC	HGNC:8190	protein_coding	YES	CCDS11026.1	ENSP00000248384	P47887	A0A126GW81	UPI0000041BBF	NM_003554.2	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF367,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	31	3433720	3433720	C	T	1	0	0	0	0	1	0	0	0	11033	623	22	3		3	OR1E2	17	3433720	Missense_Mutation	SNP	C	C3L-02345_TP		3433720	79823721	186	9270											
CAMTA2	0	.	GRCh38	chr17	4972950	4972950	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtcggttccaacggaaaagGagcacagcagcttccaggtg	11	7	13	10	2	0	0	0	0	0	0	3	2	2	2	2	4	4	4	2	4	3	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.2391C>G	p.=	p.L797L	ENST00000414043	15/23	243	201	42	251	251	0	strelka-varscan-mutect	CAMTA2,synonymous_variant,p.=,ENST00000361571,NM_001171168.1;CAMTA2,synonymous_variant,p.=,ENST00000414043,NM_001171167.1;CAMTA2,synonymous_variant,p.=,ENST00000572543,;CAMTA2,synonymous_variant,p.=,ENST00000348066,NM_015099.3;CAMTA2,synonymous_variant,p.=,ENST00000381311,NM_001171166.1;MIR6864,upstream_gene_variant,,ENST00000617935,;MIR6865,upstream_gene_variant,,ENST00000614295,;RP5-1050D4.2,non_coding_transcript_exon_variant,,ENST00000430920,;RP5-1050D4.3,downstream_gene_variant,,ENST00000576752,;CAMTA2,downstream_gene_variant,,ENST00000572326,;CAMTA2,downstream_gene_variant,,ENST00000575365,;CAMTA2,3_prime_UTR_variant,,ENST00000574951,;CAMTA2,upstream_gene_variant,,ENST00000576872,;CAMTA2,upstream_gene_variant,,ENST00000572192,;CAMTA2,upstream_gene_variant,,ENST00000574442,;CAMTA2,downstream_gene_variant,,ENST00000575192,;	C	ENST00000414043	Transcript	synonymous_variant	2545/4589	2391/3726	797/1241	L	ctC/ctG		1		-1	CAMTA2	HGNC	HGNC:18807	protein_coding	YES	CCDS54072.1	ENSP00000412886	O94983		UPI0001892BAE	NM_001171167.1			15/23		PROSITE_profiles:PS50297,hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF9,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	31	4972950	4972950	G	C	1	0	0	0	0	0	0	0	1	2307	1161	41	4		4	CAMTA2	17	4972950	Silent	SNP	G	C3L-02345_TP	1539230	4972950	78284491	187	9271											
DNAH9	0	.	GRCh38	chr17	11883592	11883592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgatatttgcagtccgatCtcacaaagcagcagaatgga	13	10	9	9	1	1	2	1	1	1	1	3	4	2	3	1	1	3	3	1	1	3	3	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.10813C>T	p.Leu3605Phe	p.L3605F	ENST00000262442	56/69	90	72	18	114	114	0	strelka-varscan-mutect	DNAH9,missense_variant,p.Leu3605Phe,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Leu3605Phe,ENST00000454412,;DNAH9,5_prime_UTR_variant,,ENST00000608377,NM_004662.2;DNAH9,downstream_gene_variant,,ENST00000579703,;DNAH9,non_coding_transcript_exon_variant,,ENST00000396001,;DNAH9,upstream_gene_variant,,ENST00000581682,;DNAH9,downstream_gene_variant,,ENST00000580255,;	T	ENST00000262442	Transcript	missense_variant	10881/13750	10813/13461	3605/4486	L/F	Ctc/Ttc		1		1	DNAH9	HGNC	HGNC:2953	protein_coding	YES	CCDS11160.1	ENSP00000262442	Q9NYC9		UPI0000141BA2	NM_001372.3	deleterious(0)		56/69		Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	11883592	11883592	C	T	1	0	0	0	0	1	0	0	0	4423	913	32	3		3	DNAH9	17	11883592	Missense_Mutation	SNP	C	C3L-02345_TP	6910642	11883592	71373849	188	9272											
NF1	0	.	GRCh38	chr17	31201079	31201079	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccattctcaagaggcagtCagcctgcagatgtggatcta	11	9	11	10	0	3	2	2	0	2	2	4	3	3	3	2	2	3	2	2	2	2	2			C3L-02345_TP	C3L-02345_NB	C	C																c.1105C>T	p.Gln369Ter	p.Q369*	ENST00000358273	10/58	389	308	81	368	368	0	strelka-varscan-mutect	NF1,stop_gained,p.Gln369Ter,ENST00000358273,NM_001042492.2;NF1,stop_gained,p.Gln369Ter,ENST00000356175,NM_000267.3;NF1,stop_gained,p.Gln35Ter,ENST00000456735,;NF1,stop_gained,p.Gln369Ter,ENST00000431387,NM_001128147.2;NF1,stop_gained,p.Gln403Ter,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;	T	ENST00000358273	Transcript	stop_gained	1488/12425	1105/8520	369/2839	Q/*	Cag/Tag	COSM24452	1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2			10/58		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF90											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	31	31201079	31201079	C	T	1	0	0	0	0	0	1	0	0	10393	827	29	3		3	NF1	17	31201079	Nonsense_Mutation	SNP	C	C3L-02345_TP	19317487	31201079	52056362	189	9273											
CSF3	0	.	GRCh38	chr17	40016236	40016236	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccttccatccccagtgtGccacctacaagctgtgccac	8	9	6	18	0	0	0	0	0	0	0	3	0	3	0	7	0	4	1	7	0	2	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.208G>C	p.Ala70Pro	p.A70P	ENST00000225474	3/5	61	45	16	61	61	0	strelka-varscan-mutect	CSF3,missense_variant,p.Ala63Pro,ENST00000331769,;CSF3,missense_variant,p.Ala67Pro,ENST00000394149,NM_172219.2;CSF3,missense_variant,p.Ala70Pro,ENST00000225474,NM_000759.3;CSF3,intron_variant,,ENST00000577675,;CSF3,intron_variant,,ENST00000394148,NM_172220.2,NM_001178147.1;CSF3,intron_variant,,ENST00000583218,;MED24,downstream_gene_variant,,ENST00000394126,;MED24,downstream_gene_variant,,ENST00000394128,NM_014815.3;MED24,downstream_gene_variant,,ENST00000394127,NM_001079518.1;MED24,downstream_gene_variant,,ENST00000356271,NM_001267797.1;MED24,downstream_gene_variant,,ENST00000501516,;MED24,downstream_gene_variant,,ENST00000422942,;MED24,downstream_gene_variant,,ENST00000614384,;RP11-387H17.6,upstream_gene_variant,,ENST00000583462,;RP11-387H17.6,upstream_gene_variant,,ENST00000584649,;MED24,downstream_gene_variant,,ENST00000470126,;CSF3,missense_variant,p.Cys15Ser,ENST00000579852,;CSF3,non_coding_transcript_exon_variant,,ENST00000479880,;MED24,downstream_gene_variant,,ENST00000535508,;MED24,downstream_gene_variant,,ENST00000491466,;MED24,downstream_gene_variant,,ENST00000579364,;CSF3,downstream_gene_variant,,ENST00000582798,;	C	ENST00000225474	Transcript	missense_variant	239/1509	208/624	70/207	A/P	Gcc/Ccc		1		1	CSF3	HGNC	HGNC:2438	protein_coding	YES	CCDS11357.1	ENSP00000225474	P09919		UPI0000128525	NM_000759.3	tolerated(0.09)		3/5		Gene3D:1.20.1250.10,Pfam_domain:PF16647,PIRSF_domain:PIRSF001935,Prints_domain:PR00433,hmmpanther:PTHR10511,SMART_domains:SM00126,Superfamily_domains:SSF47266																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	31	40016236	40016236	G	C	1	0	0	0	0	1	0	0	0	3737	1333	46	4		4	CSF3	17	40016236	Missense_Mutation	SNP	G	C3L-02345_TP	8815157	40016236	43241205	190	9274											
KRT222	0	.	GRCh38	chr17	40657694	40657694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatggtaaaacaaaaccaActctacttgtggtaggcttt	13	12	8	8	0	1	1	0	1	1	0	1	1	1	1	1	3	4	3	1	3	7	5	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.503T>C	p.Val168Ala	p.V168A	ENST00000394052	4/6	184	156	28	205	205	0	strelka-varscan-mutect	KRT222,missense_variant,p.Val168Ala,ENST00000394052,NM_152349.2;RP5-1028K7.3,missense_variant,p.Val168Ala,ENST00000476049,;KRT222,3_prime_UTR_variant,,ENST00000394049,;KRT222,3_prime_UTR_variant,,ENST00000581564,;KRT222,downstream_gene_variant,,ENST00000580719,;	G	ENST00000394052	Transcript	missense_variant	545/1712	503/888	168/295	V/A	gTt/gCt		1		-1	KRT222	HGNC	HGNC:28695	protein_coding	YES	CCDS11371.1	ENSP00000377616	Q8N1A0		UPI0000072F8A	NM_152349.2	tolerated(0.15)		4/6		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF217																	MODERATE	1	SNV	1			1										PASS		rs759752785	.												G	3	3	31	40657694	40657694	A	G	1	0	0	0	0	1	0	0	0	8341	43	2	5		5	KRT222	17	40657694	Missense_Mutation	SNP	A	C3L-02345_TP	641458	40657694	42599747	191	9275											
BRCA1	0	.	GRCh38	chr17	43045694	43045694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagtcagtagtggctgtggGggatctggggtatcaggtag	7	10	19	5	0	3	0	2	0	1	0	3	1	3	1	0	6	0	5	0	6	3	3	rs80357322		C3L-02345_TP	C3L-02345_NB	G	G																c.5639C>T	p.Pro1880Leu	p.P1880L	ENST00000471181	24/24	97	70	27	155	155	0	strelka-varscan-mutect	BRCA1,missense_variant,p.Pro1859Leu,ENST00000357654,NM_007294.3;BRCA1,missense_variant,p.Pro1880Leu,ENST00000471181,NM_007300.3;BRCA1,missense_variant,p.Pro1812Leu,ENST00000493795,NM_007297.3;BRCA1,missense_variant,p.Pro717Leu,ENST00000352993,;BRCA1,missense_variant,p.Pro755Leu,ENST00000491747,NM_007298.3;BRCA1,missense_variant,p.Pro350Leu,ENST00000591534,;BRCA1,missense_variant,p.Pro169Leu,ENST00000586385,;BRCA1,missense_variant,p.Pro92Leu,ENST00000591849,;BRCA1,3_prime_UTR_variant,,ENST00000468300,NM_007299.3;BRCA1,3_prime_UTR_variant,,ENST00000461221,;	A	ENST00000471181	Transcript	missense_variant	5871/5936	5639/5655	1880/1884	P/L	cCc/cTc	rs80357322	1		-1	BRCA1	HGNC	HGNC:1100	protein_coding	YES	CCDS11456.2	ENSP00000418960	P38398		UPI0000E0360B	NM_007300.3	deleterious_low_confidence(0)		24/24		hmmpanther:PTHR13763:SF0,hmmpanther:PTHR13763										uncertain_significance,benign,likely_benign							MODERATE	1	SNV	1		1	1										PASS		rs80357322	.												A	3	1	31	43045694	43045694	G	A	1	0	0	0	0	1	0	0	0	1668	1232	43	3		3	BRCA1	17	43045694	Missense_Mutation	SNP	G	C3L-02345_TP	2388000	43045694	40211747	192	9276											
HOXB6	0	.	GRCh38	chr17	48597926	48597926	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggtagaaggccggcgccggCccgtagtcgcagggcgccgc	5	3	18	15	8	0	1	0	0	0	1	1	1	0	1	4	5	0	3	4	5	3	2	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.225G>T	p.=	p.G75G	ENST00000484302	2/3	137	112	25	156	156	0	strelka-varscan-mutect	HOXB6,synonymous_variant,p.=,ENST00000484302,;HOXB6,synonymous_variant,p.=,ENST00000225648,NM_018952.4;HOXB5,upstream_gene_variant,,ENST00000239151,NM_002147.3;HOXB-AS3,intron_variant,,ENST00000477144,;HOXB-AS3,intron_variant,,ENST00000474040,;HOXB-AS3,intron_variant,,ENST00000460041,;HOXB-AS3,intron_variant,,ENST00000476204,;HOXB-AS3,intron_variant,,ENST00000481995,;HOXB-AS3,intron_variant,,ENST00000466037,;HOXB-AS3,intron_variant,,ENST00000467155,;HOXB-AS3,intron_variant,,ENST00000480872,;HOXB-AS3,intron_variant,,ENST00000429755,;HOXB-AS3,intron_variant,,ENST00000465846,;HOXB-AS3,intron_variant,,ENST00000487849,;HOXB-AS3,intron_variant,,ENST00000474324,;HOXB-AS3,intron_variant,,ENST00000492897,;HOXB-AS3,upstream_gene_variant,,ENST00000491264,;HOXB-AS3,upstream_gene_variant,,ENST00000494420,;HOXB3,intron_variant,,ENST00000552000,;HOXB6,downstream_gene_variant,,ENST00000490419,;HOXB6,upstream_gene_variant,,ENST00000470193,;	A	ENST00000484302	Transcript	synonymous_variant	848/1960	225/675	75/224	G	ggG/ggT		1		-1	HOXB6	HGNC	HGNC:5117	protein_coding	YES	CCDS11531.1	ENSP00000420009	P17509		UPI000013C877				2/3		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF253																	LOW		SNV	2			1										PASS		rs1282860525	.												A	2	1	31	48597926	48597926	C	A	1	0	0	0	0	0	0	0	1	7199	726	26	2		2	HOXB6	17	48597926	Silent	SNP	C	C3L-02345_TP	5552232	48597926	34659515	193	9277											
ANKFN1	0	.	GRCh38	chr17	56457959	56457959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaactcggcagaagatgctcGcagcaacagcacagctacag	15	4	10	12	2	0	2	0	0	0	2	2	2	0	2	0	1	7	6	0	1	4	1	rs766900651		C3L-02345_TP	C3L-02345_NB	G	G																c.1546G>T	p.Ala516Ser	p.A516S	ENST00000318698	13/17	175	136	39	161	161	0	strelka-varscan-mutect	ANKFN1,missense_variant,p.Ala516Ser,ENST00000566473,;ANKFN1,missense_variant,p.Ala516Ser,ENST00000318698,NM_153228.2;ANKFN1,non_coding_transcript_exon_variant,,ENST00000572321,;	T	ENST00000318698	Transcript	missense_variant	1581/2426	1546/2292	516/763	A/S	Gca/Tca	rs766900651,COSM3194396	1		1	ANKFN1	HGNC	HGNC:26766	protein_coding	YES	CCDS32686.1	ENSP00000321627	Q8N957		UPI000049DE57	NM_153228.2	tolerated(0.88)		13/17		hmmpanther:PTHR21437,hmmpanther:PTHR21437:SF3											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs766900651	.												T	3	4	31	56457959	56457959	G	T	1	0	0	0	0	1	0	0	0	727	1087	38	1		1	ANKFN1	17	56457959	Missense_Mutation	SNP	G	C3L-02345_TP	7860033	56457959	26799482	194	9278											
TLK2	0	.	GRCh38	chr17	62606143	62606143	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccaggtatttaccaccaGagtgttttgtggttgggaaa	9	13	12	7	0	0	1	0	0	0	1	1	2	1	2	3	3	1	3	3	3	3	6	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1939G>T	p.Glu647Ter	p.E647*	ENST00000326270	21/23	54	45	9	51	51	0	varscan-mutect	TLK2,stop_gained,p.Glu476Ter,ENST00000582809,;TLK2,stop_gained,p.Glu647Ter,ENST00000326270,NM_001284333.1;TLK2,stop_gained,p.Glu625Ter,ENST00000346027,NM_006852.3;TLK2,stop_gained,p.Glu593Ter,ENST00000343388,NM_001284363.1;TLK2,stop_gained,p.Glu561Ter,ENST00000581041,;TLK2,non_coding_transcript_exon_variant,,ENST00000578931,;TLK2,non_coding_transcript_exon_variant,,ENST00000583310,;	T	ENST00000326270	Transcript	stop_gained	2207/3512	1939/2319	647/772	E/*	Gag/Tag		1		1	TLK2	HGNC	HGNC:11842	protein_coding	YES	CCDS62283.1	ENSP00000316512	Q86UE8		UPI00001B6B0E	NM_001284333.1			21/23		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		rs1187350981	.												T	4	4	31	62606143	62606143	G	T	1	0	0	0	0	0	1	0	0	16390	943	33	2		2	TLK2	17	62606143	Nonsense_Mutation	SNP	G	C3L-02345_TP	6148184	62606143	20651298	195	9279											
TANC2	0	.	GRCh38	chr17	63389537	63389537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgctgtgcaagaaacGggccaaggtactggctgccc	8	7	15	11	1	0	1	0	0	0	1	0	1	0	1	2	4	6	5	2	4	4	1	rs371161191		C3L-02345_TP	C3L-02345_NB	G	G																c.2822G>T	p.Arg941Leu	p.R941L	ENST00000424789	15/25	389	315	74	420	419	1	strelka-varscan-mutect	TANC2,missense_variant,p.Arg941Leu,ENST00000424789,NM_025185.3;TANC2,missense_variant,p.Arg870Leu,ENST00000583356,;TANC2,missense_variant,p.Arg941Leu,ENST00000389520,;TANC2,missense_variant,p.Arg42Leu,ENST00000613171,;AC015923.1,intron_variant,,ENST00000431604,;RP11-269G24.3,downstream_gene_variant,,ENST00000583552,;TANC2,non_coding_transcript_exon_variant,,ENST00000583545,;TANC2,non_coding_transcript_exon_variant,,ENST00000581143,;RP11-269G24.7,upstream_gene_variant,,ENST00000606610,;	T	ENST00000424789	Transcript	missense_variant	2826/11721	2822/5973	941/1990	R/L	cGg/cTg	rs371161191	1		1	TANC2	HGNC	HGNC:30212	protein_coding	YES	CCDS45754.1	ENSP00000387593	Q9HCD6		UPI00015D57DF	NM_025185.3	deleterious(0.01)		15/25		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF21,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	2			1										PASS		rs371161191	.												T	3	4	31	63389537	63389537	G	T	1	0	0	0	0	1	0	0	0	15942	1116	39	1		1	TANC2	17	63389537	Missense_Mutation	SNP	G	C3L-02345_TP	783394	63389537	19867904	196	9280											
BPTF	0	.	GRCh38	chr17	67826175	67826201	+	In_Frame_Del	DEL	GACGCCGAGGAGACCCAGGATTCTGAG	GACGCCGAGGAGACCCAGGATTCTGAG	-																															aggaggaggaggaggacggcGacgccgaggagacccaggat																								novel		C3L-02345_TP	C3L-02345_NB	GACGCCGAGGAGACCCAGGATTCTGAG	GACGCCGAGGAGACCCAGGATTCTGAG																c.455_481delCCGAGGAGACCCAGGATTCTGAGGACG	p.Ala152_Asp160del	p.A152_D160del	ENST00000306378	1/28	225	188	37	283	283	0	sindel-pindel	BPTF,inframe_deletion,p.Ala152_Asp160del,ENST00000321892,NM_004459.6;BPTF,inframe_deletion,p.Ala152_Asp160del,ENST00000306378,NM_182641.3;BPTF,inframe_deletion,p.Ala13_Asp21del,ENST00000424123,;BPTF,inframe_deletion,p.Ala152_Asp160del,ENST00000544778,;BPTF,inframe_deletion,p.Ala13_Asp21del,ENST00000335221,;	-	ENST00000306378	Transcript	inframe_deletion	511-537/9688	451-477/8763	151-159/2920	DAEETQDSE/-	GACGCCGAGGAGACCCAGGATTCTGAG/-		1		1	BPTF	HGNC	HGNC:3581	protein_coding	YES	CCDS11673.1	ENSP00000307208	Q12830		UPI00002263BF	NM_182641.3			1/28		Low_complexity_(Seg):seg																	MODERATE	1	deletion	1	4		1										PASS		.	.												-	7	5	31	67826175	67826175	GACGCCGAGGAGACCCAGGATTCTGAG	-	1	0	1	0	1	0	0	0	0	1664	1058	37	0		0	BPTF	17	67826175	In_Frame_Del	DEL	GACGCCGAGGAGACCCAGGATTCTGAG	C3L-02345_TP	4436638	67826175	15431266	197	9281	208	2									
BPTF	0	.	GRCh38	chr17	67826179	67826179	+	Missense_Mutation	SNP	C	C	A																															ggaggaggaggacggcgacgCcgaggagacccaggattctg																								rs143770213		C3L-02345_TP	C3L-02345_NB	C	C																c.455C>A	p.Ala152Asp	p.A152D	ENST00000306378	1/28	133	117	16	185	185	0	varscan-mutect	BPTF,missense_variant,p.Ala152Asp,ENST00000321892,NM_004459.6;BPTF,missense_variant,p.Ala152Asp,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Ala13Asp,ENST00000424123,;BPTF,missense_variant,p.Ala152Asp,ENST00000544778,;BPTF,missense_variant,p.Ala13Asp,ENST00000335221,;	A	ENST00000306378	Transcript	missense_variant	515/9688	455/8763	152/2920	A/D	gCc/gAc	rs143770213	1		1	BPTF	HGNC	HGNC:3581	protein_coding	YES	CCDS11673.1	ENSP00000307208	Q12830		UPI00002263BF	NM_182641.3	tolerated(0.22)		1/28		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs143770213	.												A	3	1	31	67826179	67826179	C	A	1	0	0	0	0	1	0	0	0	1664	739	26	2		2	BPTF	17	67826179	Missense_Mutation	SNP	C	C3L-02345_TP	4	67826179	15431262	198	9282	208	2									
SSTR2	0	.	GRCh38	chr17	73169779	73169779	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaagtcggccaagtggAggagaccccggacggccaag	11	3	14	13	3	1	1	1	0	0	1	2	4	1	3	5	5	0	0	5	5	3	0			C3L-02345_TP	C3L-02345_NB	A	A																c.460A>T	p.Arg154Trp	p.R154W	ENST00000357585	2/2	233	212	21	218	218	0	strelka-varscan-mutect	SSTR2,missense_variant,p.Arg154Trp,ENST00000357585,NM_001050.2;RP11-143K11.5,intron_variant,,ENST00000580671,;SSTR2,downstream_gene_variant,,ENST00000579323,;	T	ENST00000357585	Transcript	missense_variant	829/7683	460/1110	154/369	R/W	Agg/Tgg	COSM437266,COSM5207106	1		1	SSTR2	HGNC	HGNC:11331	protein_coding	YES	CCDS11691.1	ENSP00000350198	P30874		UPI0000000808	NM_001050.2	deleterious(0)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF6,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	31	73169779	73169779	A	T	1	0	0	0	0	1	0	0	0	15575	295	11	4		4	SSTR2	17	73169779	Missense_Mutation	SNP	A	C3L-02345_TP	5343600	73169779	10087662	199	9283											
TMC8	0	.	GRCh38	chr17	78138160	78138160	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgctgaatagcgtctTcctcttcctcaccttctaca	6	13	5	17	1	4	1	1	1	3	0	6	1	6	1	5	0	3	1	5	0	3	5	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.1505T>A	p.Phe502Tyr	p.F502Y	ENST00000318430	12/16	403	322	81	400	400	0	strelka-varscan-mutect	TMC8,missense_variant,p.Phe502Tyr,ENST00000318430,NM_152468.4;TMC8,missense_variant,p.Phe279Tyr,ENST00000589691,;TMC8,non_coding_transcript_exon_variant,,ENST00000591003,;TMC8,upstream_gene_variant,,ENST00000591144,;TMC8,downstream_gene_variant,,ENST00000592399,;TMC8,downstream_gene_variant,,ENST00000590184,;TMC8,downstream_gene_variant,,ENST00000591983,;	A	ENST00000318430	Transcript	missense_variant	1879/4411	1505/2181	502/726	F/Y	tTc/tAc		1		1	TMC8	HGNC	HGNC:20474	protein_coding	YES	CCDS32749.1	ENSP00000325561	Q8IU68	A0A024R8N8	UPI00000747D3	NM_152468.4	tolerated(0.08)		12/16		Pfam_domain:PF07810,hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF39,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	78138160	78138160	T	A	1	0	0	0	0	1	0	0	0	16437	1783	62	4		4	TMC8	17	78138160	Missense_Mutation	SNP	T	C3L-02345_TP	4968381	78138160	5119281	200	9284											
TXNDC2	0	.	GRCh38	chr18	9887270	9887270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagcaaagcccatccagcCcaagctgggcaatattccca	12	6	7	16	0	1	0	1	0	0	0	3	0	3	0	4	1	4	3	4	1	4	2	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.791C>A	p.Pro264His	p.P264H	ENST00000306084	2/2	222	184	38	262	262	0	strelka-varscan-mutect	TXNDC2,missense_variant,p.Pro197His,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Pro264His,ENST00000611534,;TXNDC2,missense_variant,p.Pro264His,ENST00000306084,NM_001098529.1;TXNDC2,intron_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,;	A	ENST00000306084	Transcript	missense_variant	990/1873	791/1662	264/553	P/H	cCc/cAc		1		1	TXNDC2	HGNC	HGNC:16470	protein_coding	YES	CCDS42414.1	ENSP00000304908	Q86VQ3	A0A140VJY8	UPI000013EAE7	NM_001098529.1	deleterious(0.01)		2/2																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	31	9887270	9887270	C	A	1	0	0	0	0	1	0	0	0	17313	623	22	2		2	TXNDC2	18	9887270	Missense_Mutation	SNP	C	C3L-02345_TP		9887270	70486015	201	9285											
DSG4	0	.	GRCh38	chr18	31409503	31409503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaacagagacagccagaagGcctgggaacaagatttgctc	15	5	11	10	0	0	3	0	0	0	3	1	5	0	4	2	2	4	1	2	2	4	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1985G>A	p.Gly662Asp	p.G662D	ENST00000359747	13/15	550	474	76	577	577	0	strelka-varscan-mutect	DSG4,missense_variant,p.Gly662Asp,ENST00000359747,NM_001134453.1;DSG4,missense_variant,p.Gly662Asp,ENST00000308128,NM_177986.3;DSG1-AS1,intron_variant,,ENST00000581856,;DSG1-AS1,intron_variant,,ENST00000578477,;	A	ENST00000359747	Transcript	missense_variant	2014/4526	1985/3180	662/1059	G/D	gGc/gAc		1		1	DSG4	HGNC	HGNC:21307	protein_coding	YES	CCDS45845.1	ENSP00000352785	Q86SJ6		UPI000035DB4E	NM_001134453.1	deleterious(0.02)		13/15		hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	31409503	31409503	G	A	1	0	0	0	0	1	0	0	0	4600	1203	42	3		3	DSG4	18	31409503	Missense_Mutation	SNP	G	C3L-02345_TP	21522233	31409503	48963782	202	9286											
PRSS57	0	.	GRCh38	chr19	687161	687161	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcctcagcagccccactgCagggcccaggacagcagagc	9	2	13	17	1	1	1	1	0	0	1	1	2	1	2	4	3	5	3	4	3	0	0	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.409G>C	p.Ala137Pro	p.A137P	ENST00000613411	4/5	38	29	9	50	50	0	strelka-varscan-mutect	PRSS57,missense_variant,p.Ala137Pro,ENST00000613411,NM_214710.3;PRSS57,missense_variant,p.Ala136Pro,ENST00000329267,NM_001308209.1;FSTL3,downstream_gene_variant,,ENST00000166139,NM_005860.2;FSTL3,downstream_gene_variant,,ENST00000592947,;RPS2P52,upstream_gene_variant,,ENST00000469610,;	G	ENST00000613411	Transcript	missense_variant	477/1090	409/852	137/283	A/P	Gca/Cca		1		-1	PRSS57	HGNC	HGNC:31397	protein_coding	YES	CCDS12041.1	ENSP00000482358	Q6UWY2		UPI000022AA4D	NM_214710.3	tolerated(0.19)		4/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF159,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	31	687161	687161	C	G	1	0	0	0	0	1	0	0	0	12784	710	25	4		4	PRSS57	19	687161	Missense_Mutation	SNP	C	C3L-02345_TP		687161	57930455	203	9287											
ABCA7	0	.	GRCh38	chr19	1046996	1046996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgggcccttcctgctcaGcgccgcactgctggttctgg	2	10	12	17	3	2	0	1	0	1	0	4	0	3	0	4	3	3	4	4	3	0	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1817G>T	p.Ser606Ile	p.S606I	ENST00000263094	14/47	114	88	26	176	176	0	strelka-varscan-mutect	ABCA7,missense_variant,p.Ser606Ile,ENST00000263094,NM_019112.3;ABCA7,missense_variant,p.Ser606Ile,ENST00000433129,;ABCA7,missense_variant,p.Ser468Ile,ENST00000435683,;ABCA7,downstream_gene_variant,,ENST00000524850,;ABCA7,downstream_gene_variant,,ENST00000531467,;ABCA7,intron_variant,,ENST00000533574,;ABCA7,downstream_gene_variant,,ENST00000525238,;ABCA7,downstream_gene_variant,,ENST00000526885,;ABCA7,downstream_gene_variant,,ENST00000527496,;	T	ENST00000263094	Transcript	missense_variant	2048/6816	1817/6441	606/2146	S/I	aGc/aTc		1		1	ABCA7	HGNC	HGNC:37	protein_coding	YES	CCDS12055.1	ENSP00000263094	Q8IZY2		UPI000013D3A4	NM_019112.3	deleterious(0)		14/47		Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	31	1046996	1046996	G	T	1	0	0	0	0	1	0	0	0	41	971	34	2		2	ABCA7	19	1046996	Missense_Mutation	SNP	G	C3L-02345_TP	359835	1046996	57570620	204	9288											
STK11	0	.	GRCh38	chr19	1207077	1207078	+	Frame_Shift_Ins	INS	-	-	G																															tacctgatgggggacctgctINSgggggaaggctcttacggca																								novel		C3L-02345_TP	C3L-02345_NB	-	-																c.169dupG	p.Glu57GlyfsTer106	p.E57Gfs*106	ENST00000326873	1/10	236	183	53	310	309	1	sindel-varindel-pindel	STK11,frameshift_variant,p.Glu57GlyfsTer106,ENST00000586243,;STK11,frameshift_variant,p.Glu57GlyfsTer106,ENST00000326873,NM_000455.4;STK11,frameshift_variant,p.Glu57GlyfsTer48,ENST00000585851,;STK11,intron_variant,,ENST00000585748,;STK11,frameshift_variant,p.Glu57GlyfsTer?,ENST00000593219,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,upstream_gene_variant,,ENST00000586358,;HMGB2P1,downstream_gene_variant,,ENST00000591146,;	G	ENST00000326873	Transcript	frameshift_variant	614-615/2611	164-165/1302	55/433	L/LX	ctg/ctGg		1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4			1/10		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	insertion	1	5		1										PASS		.	.												G	7	5	31	1207077	1207077	-	G	1	0	1	1	0	0	0	0	0	15664	1580	55	0		0	STK11	19	1207077	Frame_Shift_Ins	INS	-	C3L-02345_TP	160081	1207077	57410539	205	9289											
SMARCA4	0	.	GRCh38	chr19	11059834	11059834	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggatgacagtgaaggcGaggagagtgaggaggaggaa	15	3	21	2	1	0	4	0	3	0	1	0	11	0	9	0	7	0	0	0	7	2	0	rs775433905		C3L-02345_TP	C3L-02345_NB	G	G																c.4717G>T	p.Glu1573Ter	p.E1573*	ENST00000429416	34/36	293	218	75	355	354	1	strelka-varscan-mutect	SMARCA4,stop_gained,p.Glu1573Ter,ENST00000429416,NM_001128844.1;SMARCA4,stop_gained,p.Glu1607Ter,ENST00000413806,;SMARCA4,stop_gained,p.Glu1605Ter,ENST00000450717,NM_001128849.1;SMARCA4,stop_gained,p.Glu1573Ter,ENST00000344626,NM_003072.3;SMARCA4,stop_gained,p.Glu1540Ter,ENST00000590574,NM_001128847.1;SMARCA4,stop_gained,p.Glu1542Ter,ENST00000589677,NM_001128846.1;SMARCA4,stop_gained,p.Glu1543Ter,ENST00000541122,NM_001128845.1;SMARCA4,stop_gained,p.Glu1539Ter,ENST00000444061,NM_001128848.1;SMARCA4,stop_gained,p.Glu47Ter,ENST00000586985,;SMARCA4,upstream_gene_variant,,ENST00000586921,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;	T	ENST00000429416	Transcript	stop_gained	4998/5691	4717/4944	1573/1647	E/*	Gag/Tag	rs775433905	1		1	SMARCA4	HGNC	HGNC:11100	protein_coding	YES	CCDS12253.1	ENSP00000395654	P51532	A7E2E1	UPI000006F973	NM_001128844.1			34/36		Low_complexity_(Seg):seg																	HIGH	1	SNV	2			1										PASS		rs775433905	.												T	4	4	31	11059834	11059834	G	T	1	0	0	0	0	0	1	0	0	15063	1059	37	1		1	SMARCA4	19	11059834	Nonsense_Mutation	SNP	G	C3L-02345_TP	9852757	11059834	47557782	206	9290											
MAST1	0	.	GRCh38	chr19	12858680	12858680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgagaacccgtttgtggtcgGcatgttctgctcctttgaga	6	13	12	10	3	1	2	0	1	1	2	3	4	2	2	2	2	2	4	2	2	1	3	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1307G>T	p.Gly436Val	p.G436V	ENST00000251472	12/26	386	295	91	460	460	0	strelka-varscan-mutect	MAST1,missense_variant,p.Gly436Val,ENST00000251472,NM_014975.2;MAST1,missense_variant,p.Gly432Val,ENST00000591495,;MAST1,missense_variant,p.Gly390Val,ENST00000588379,;HOOK2,intron_variant,,ENST00000589765,;MAST1,non_coding_transcript_exon_variant,,ENST00000589040,;	T	ENST00000251472	Transcript	missense_variant	1346/4833	1307/4713	436/1570	G/V	gGc/gTc		1		1	MAST1	HGNC	HGNC:19034	protein_coding	YES	CCDS32921.1	ENSP00000251472	Q9Y2H9		UPI000004A042	NM_014975.2	deleterious(0)		12/26		PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF150,hmmpanther:PTHR24356,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	12858680	12858680	G	T	1	0	0	0	0	1	0	0	0	9250	1203	42	2		2	MAST1	19	12858680	Missense_Mutation	SNP	G	C3L-02345_TP	1798846	12858680	45758936	207	9291											
SUGP2	0	.	GRCh38	chr19	19004375	19004375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgcccgcccctccaggagCgggggcctcctctcccccat	3	7	10	21	2	1	0	0	0	1	0	4	1	3	1	8	3	2	0	8	3	0	1	rs202004163		C3L-02345_TP	C3L-02345_NB	C	C																c.2722G>T	p.Ala908Ser	p.A908S	ENST00000452918	7/11	83	58	25	141	140	1	strelka-varscan-mutect	SUGP2,missense_variant,p.Ala908Ser,ENST00000452918,NM_001321699.1,NM_001017392.3;SUGP2,missense_variant,p.Ala908Ser,ENST00000601879,;SUGP2,missense_variant,p.Ala922Ser,ENST00000600377,;SUGP2,missense_variant,p.Ala908Ser,ENST00000337018,NM_001321697.1,NM_001321698.1,NM_014884.3;SUGP2,3_prime_UTR_variant,,ENST00000600239,;SUGP2,3_prime_UTR_variant,,ENST00000598240,;SUGP2,intron_variant,,ENST00000594773,;SUGP2,intron_variant,,ENST00000330854,;SUGP2,upstream_gene_variant,,ENST00000597280,;SUGP2,upstream_gene_variant,,ENST00000593795,;	A	ENST00000452918	Transcript	missense_variant	2796/6176	2722/3249	908/1082	A/S	Gct/Tct	rs202004163	1		-1	SUGP2	HGNC	HGNC:18641	protein_coding	YES	CCDS12392.1	ENSP00000389380	Q8IX01		UPI000019825D	NM_001321699.1,NM_001017392.3	tolerated(0.86)		7/11		Low_complexity_(Seg):seg,hmmpanther:PTHR23340,hmmpanther:PTHR23340:SF2																	MODERATE	1	SNV	1			1										PASS		rs202004163	.												A	3	1	31	19004375	19004375	C	A	1	0	0	0	0	1	0	0	0	15756	768	27	1		1	SUGP2	19	19004375	Missense_Mutation	SNP	C	C3L-02345_TP	6145695	19004375	39613241	208	9292											
ARMC6	0	.	GRCh38	chr19	19055389	19055389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgacccagcatctgaccaGcccccaggtacccacctcgg	9	6	8	18	1	1	2	0	2	1	0	2	2	1	2	6	2	3	2	6	2	2	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1148G>T	p.Ser383Ile	p.S383I	ENST00000535612	7/9	61	41	20	68	68	0	strelka-mutect	ARMC6,missense_variant,p.Ser383Ile,ENST00000535612,NM_001199196.1;ARMC6,missense_variant,p.Ser358Ile,ENST00000269932,;ARMC6,missense_variant,p.Ser358Ile,ENST00000392335,NM_033415.3;ARMC6,missense_variant,p.Ser383Ile,ENST00000392336,;ARMC6,missense_variant,p.Ser290Ile,ENST00000546344,;ARMC6,missense_variant,p.Ser47Ile,ENST00000535795,;ARMC6,missense_variant,p.Ser73Ile,ENST00000535478,;ARMC6,upstream_gene_variant,,ENST00000540634,;ARMC6,downstream_gene_variant,,ENST00000537263,;ARMC6,downstream_gene_variant,,ENST00000541898,;ARMC6,downstream_gene_variant,,ENST00000540792,;ARMC6,downstream_gene_variant,,ENST00000535288,;ARMC6,downstream_gene_variant,,ENST00000536098,;ARMC6,downstream_gene_variant,,ENST00000541725,;ARMC6,downstream_gene_variant,,ENST00000538663,;ARMC6,downstream_gene_variant,,ENST00000539985,;ARMC6,downstream_gene_variant,,ENST00000545091,;ARMC6,downstream_gene_variant,,ENST00000535758,;	T	ENST00000535612	Transcript	missense_variant	1580/2488	1148/1506	383/501	S/I	aGc/aTc		1		1	ARMC6	HGNC	HGNC:25049	protein_coding	YES	CCDS56089.1	ENSP00000444156	Q6NXE6		UPI0000D4C04D	NM_001199196.1	deleterious(0.02)		7/9		Gene3D:1.25.10.10,hmmpanther:PTHR22895,SMART_domains:SM00185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	19055389	19055389	G	T	1	0	0	0	0	1	0	0	0	1096	971	34	2		2	ARMC6	19	19055389	Missense_Mutation	SNP	G	C3L-02345_TP	51014	19055389	39562227	209	9293											
UPK1A	0	.	GRCh38	chr19	35668625	35668625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttggtgtgggtgccgcaCtctgccgccgccggtccatg	2	11	15	13	4	1	0	0	0	1	0	2	0	2	0	5	3	2	2	5	3	0	2	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.256C>A	p.Leu86Ile	p.L86I	ENST00000616789	3/9	154	118	36	183	183	0	strelka-varscan-mutect	UPK1A,missense_variant,p.Leu86Ile,ENST00000616789,NM_001281443.1;UPK1A,missense_variant,p.Leu86Ile,ENST00000617999,NM_007000.3;UPK1A,missense_variant,p.Leu86Ile,ENST00000222275,;UPK1A,missense_variant,p.Leu86Ile,ENST00000379013,;UPK1A-AS1,non_coding_transcript_exon_variant,,ENST00000443196,;	A	ENST00000616789	Transcript	missense_variant	283/1366	256/822	86/273	L/I	Ctc/Atc		1		1	UPK1A	HGNC	HGNC:12577	protein_coding	YES	CCDS62640.1	ENSP00000478942	O00322		UPI00005C40C1	NM_001281443.1	tolerated(0.35)		3/9		Pfam_domain:PF00335,Prints_domain:PR00259,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF25																	MODERATE		SNV	5			1										PASS		rs981011094	.												A	3	1	31	35668625	35668625	C	A	1	0	0	0	0	1	0	0	0	17533	565	20	2		2	UPK1A	19	35668625	Missense_Mutation	SNP	C	C3L-02345_TP	16613236	35668625	22948991	210	9294											
ZNF345	0	.	GRCh38	chr19	36877356	36877356	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgagaagccttatgagTgtaaggaatgtgggaagtcc	11	10	16	4	0	0	2	0	2	0	1	1	5	1	4	2	3	1	1	2	3	5	2	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.526T>A	p.Cys176Ser	p.C176S	ENST00000529555	2/2	216	180	36	234	233	1	strelka-varscan-mutect	ZNF345,missense_variant,p.Cys176Ser,ENST00000529555,;ZNF345,missense_variant,p.Cys176Ser,ENST00000589046,NM_003419.4;ZNF345,missense_variant,p.Cys176Ser,ENST00000614069,NM_001242474.1;ZNF345,missense_variant,p.Cys176Ser,ENST00000612719,NM_001242476.1,NM_001242475.1;ZNF345,missense_variant,p.Cys176Ser,ENST00000420450,NM_001242472.1;ZNF345,missense_variant,p.Cys176Ser,ENST00000585396,;ZNF345,intron_variant,,ENST00000586933,;ZNF345,intron_variant,,ENST00000526123,;ZNF345,downstream_gene_variant,,ENST00000532141,;ZNF345,downstream_gene_variant,,ENST00000586646,;ZNF345,downstream_gene_variant,,ENST00000331800,;ZNF345,intron_variant,,ENST00000432005,;ZNF345,intron_variant,,ENST00000529989,;ZNF345,intron_variant,,ENST00000525851,;ZNF345,intron_variant,,ENST00000534729,;	A	ENST00000529555	Transcript	missense_variant	1314/3527	526/1467	176/488	C/S	Tgt/Agt		1		1	ZNF345	HGNC	HGNC:16367	protein_coding	YES	CCDS12497.1	ENSP00000431202	Q14585		UPI000013C364		deleterious(0)		2/2		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	36877356	36877356	T	A	1	0	0	0	0	1	0	0	0	18431	1696	59	4		4	ZNF345	19	36877356	Missense_Mutation	SNP	T	C3L-02345_TP	1208731	36877356	21740260	211	9295											
ZNF420	0	.	GRCh38	chr19	37127787	37127787	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttactcagaattcacaaCttacactacaccagagactt	14	11	3	13	0	2	2	2	0	0	2	2	3	2	2	2	0	4	0	2	0	5	6	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.796C>G	p.Leu266Val	p.L266V	ENST00000337995	5/5	205	170	35	240	240	0	strelka-varscan-mutect	ZNF420,missense_variant,p.Leu266Val,ENST00000337995,NM_144689.3;ZNF420,missense_variant,p.Leu266Val,ENST00000304239,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF420,downstream_gene_variant,,ENST00000589245,;ZNF420,downstream_gene_variant,,ENST00000587029,;ZNF420,downstream_gene_variant,,ENST00000590332,;ZNF420,upstream_gene_variant,,ENST00000585862,;CTC-454I21.4,downstream_gene_variant,,ENST00000587645,;ZNF585A,intron_variant,,ENST00000588723,;ZNF420,upstream_gene_variant,,ENST00000586540,;ZNF585A,intron_variant,,ENST00000587817,;ZNF420,downstream_gene_variant,,ENST00000589461,;	G	ENST00000337995	Transcript	missense_variant	1011/3535	796/2067	266/688	L/V	Ctt/Gtt		1		1	ZNF420	HGNC	HGNC:20649	protein_coding	YES	CCDS12498.1	ENSP00000338770	Q8TAQ5		UPI000007049F	NM_144689.3	deleterious(0)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF290,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	31	37127787	37127787	C	G	1	0	0	0	0	1	0	0	0	18469	565	20	4		4	ZNF420	19	37127787	Missense_Mutation	SNP	C	C3L-02345_TP	250431	37127787	21489829	212	9296											
LTBP4	0	.	GRCh38	chr19	40605456	40605456	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccgcaggaggcgtcggTggtggtgcaccaggtggagc	6	5	19	11	3	0	0	0	0	0	0	1	2	0	2	2	7	2	3	2	7	0	0	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.695T>G	p.Val232Gly	p.V232G	ENST00000308370	6/33	323	254	69	330	330	0	strelka-varscan-mutect	LTBP4,missense_variant,p.Val195Gly,ENST00000204005,NM_003573.2;LTBP4,missense_variant,p.Val232Gly,ENST00000308370,NM_001042544.1;LTBP4,missense_variant,p.Val165Gly,ENST00000396819,NM_001042545.1;LTBP4,upstream_gene_variant,,ENST00000243562,;LTBP4,3_prime_UTR_variant,,ENST00000599016,;LTBP4,3_prime_UTR_variant,,ENST00000594537,;LTBP4,intron_variant,,ENST00000598717,;LTBP4,upstream_gene_variant,,ENST00000546155,;LTBP4,upstream_gene_variant,,ENST00000595529,;LTBP4,upstream_gene_variant,,ENST00000598256,;LTBP4,downstream_gene_variant,,ENST00000600026,;LTBP4,downstream_gene_variant,,ENST00000593738,;	G	ENST00000308370	Transcript	missense_variant	695/4948	695/4875	232/1624	V/G	gTg/gGg		1		1	LTBP4	HGNC	HGNC:6717	protein_coding	YES	CCDS74369.1	ENSP00000311905	Q8N2S1		UPI0000DACAC4	NM_001042544.1	deleterious(0)		6/33		hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF43																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	31	40605456	40605456	T	G	1	0	0	0	0	1	0	0	0	8982	1696	59	5		5	LTBP4	19	40605456	Missense_Mutation	SNP	T	C3L-02345_TP	3477669	40605456	18012160	213	9297											
SHANK1	0	.	GRCh38	chr19	50668308	50668308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggccgctgggcgaggCgggggtgggcacgggcgagg	3	2	26	10	6	0	0	0	0	0	0	0	2	0	0	2	9	0	2	2	9	0	0	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.3652G>T	p.Ala1218Ser	p.A1218S	ENST00000293441	22/23	32	22	10	20	20	0	strelka-varscan-mutect	SHANK1,missense_variant,p.Ala1218Ser,ENST00000293441,NM_016148.2;SHANK1,missense_variant,p.Ala1226Ser,ENST00000391814,;SHANK1,missense_variant,p.Ala1209Ser,ENST00000359082,;SHANK1,missense_variant,p.Ala605Ser,ENST00000391813,;SHANK1,upstream_gene_variant,,ENST00000468654,;	A	ENST00000293441	Transcript	missense_variant	3671/6643	3652/6486	1218/2161	A/S	Gcc/Tcc		1		-1	SHANK1	HGNC	HGNC:15474	protein_coding	YES	CCDS12799.1	ENSP00000293441	Q9Y566		UPI000013E109	NM_016148.2	tolerated_low_confidence(0.91)		22/23		Low_complexity_(Seg):seg,hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	50668308	50668308	C	A	1	0	0	0	0	1	0	0	0	14523	768	27	1		1	SHANK1	19	50668308	Missense_Mutation	SNP	C	C3L-02345_TP	10062852	50668308	7949308	214	9298											
ZNF611	0	.	GRCh38	chr19	52705371	52705371	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttgtaaggtttctctcCactatgaattctagtatgtt	10	17	6	8	0	2	1	0	1	2	0	4	1	3	1	1	1	0	4	1	1	5	8	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1684G>T	p.Gly562Ter	p.G562*	ENST00000543227	6/6	208	159	49	216	216	0	strelka-varscan-mutect	ZNF611,stop_gained,p.Gly562Ter,ENST00000543227,NM_001161499.1;ZNF611,stop_gained,p.Gly562Ter,ENST00000540744,NM_001161500.1;ZNF611,stop_gained,p.Gly493Ter,ENST00000453741,NM_001161501.1;ZNF611,stop_gained,p.Gly493Ter,ENST00000602162,;ZNF611,stop_gained,p.Gly562Ter,ENST00000319783,NM_030972.3;ZNF611,stop_gained,p.Gly493Ter,ENST00000595798,;ZNF611,downstream_gene_variant,,ENST00000600943,;ZNF611,downstream_gene_variant,,ENST00000596702,;ZNF611,downstream_gene_variant,,ENST00000601643,;ZNF611,downstream_gene_variant,,ENST00000602046,;ZNF611,3_prime_UTR_variant,,ENST00000595001,;ZNF611,3_prime_UTR_variant,,ENST00000601249,;ZNF611,downstream_gene_variant,,ENST00000597343,;ZNF611,downstream_gene_variant,,ENST00000598639,;ZNF611,downstream_gene_variant,,ENST00000598723,;	A	ENST00000543227	Transcript	stop_gained	1959/4517	1684/2118	562/705	G/*	Gga/Tga		1		-1	ZNF611	HGNC	HGNC:28766	protein_coding	YES	CCDS12855.1	ENSP00000437616	Q8N823		UPI00001406C1	NM_001161499.1			6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF375,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	HIGH	1	SNV	4			1										PASS		.	.												A	4	1	31	52705371	52705371	C	A	1	0	0	0	0	0	1	0	0	18612	603	21	2		2	ZNF611	19	52705371	Nonsense_Mutation	SNP	C	C3L-02345_TP	2037063	52705371	5912245	215	9299											
LAIR2	0	.	GRCh38	chr19	54507995	54507995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttggggttcaaacattcCgcctggagagggaggataga	10	8	16	7	2	1	2	1	0	0	2	2	5	2	4	2	6	1	2	2	6	2	4	rs763891376		C3L-02345_TP	C3L-02345_NB	C	C																c.175C>T	p.Arg59Cys	p.R59C	ENST00000301202	3/5	305	245	60	280	280	0	strelka-varscan-mutect	LAIR2,missense_variant,p.Arg59Cys,ENST00000301202,NM_002288.5;LAIR2,missense_variant,p.Arg53Cys,ENST00000412608,;LAIR2,missense_variant,p.Arg41Cys,ENST00000610651,;LAIR2,missense_variant,p.Arg59Cys,ENST00000351841,NM_021270.4;	T	ENST00000301202	Transcript	missense_variant	297/699	175/459	59/152	R/C	Cgc/Tgc	rs763891376	1		1	LAIR2	HGNC	HGNC:6478	protein_coding	YES	CCDS12897.1	ENSP00000301202	Q6ISS4		UPI000013E6E5	NM_002288.5	deleterious(0)		3/5		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF122,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs763891376	.												T	3	4	31	54507995	54507995	C	T	1	0	0	0	0	1	0	0	0	8507	652	23	1		1	LAIR2	19	54507995	Missense_Mutation	SNP	C	C3L-02345_TP	1802624	54507995	4109621	216	9300											
LILRB1	0	.	GRCh38	chr19	54636821	54636821	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaactgagcctcctccatcCcaggaagggccctctccagc	8	6	9	18	0	1	1	0	1	1	0	5	2	4	2	6	2	3	1	6	2	2	0			C3L-02345_TP	C3L-02345_NB	C	C																c.1902C>A	p.=	p.S634S	ENST00000324602	15/15	238	199	39	287	287	0	strelka-varscan-mutect	LILRB1,synonymous_variant,p.=,ENST00000396331,NM_006669.6;LILRB1,synonymous_variant,p.=,ENST00000396327,NM_001081638.3;LILRB1,synonymous_variant,p.=,ENST00000396332,NM_001081639.3;LILRB1,synonymous_variant,p.=,ENST00000324602,NM_001081637.2;LILRB1,synonymous_variant,p.=,ENST00000427581,;LILRB1,synonymous_variant,p.=,ENST00000396315,;LILRB1,synonymous_variant,p.=,ENST00000396317,NM_001278398.2;AC009892.10,intron_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,3_prime_UTR_variant,,ENST00000421584,;LILRB1,downstream_gene_variant,,ENST00000480375,;LILRB1,downstream_gene_variant,,ENST00000487425,;	A	ENST00000324602	Transcript	synonymous_variant	2067/2774	1902/1959	634/652	S	tcC/tcA	COSM1612799	1		1	LILRB1	HGNC	HGNC:6605	protein_coding	YES	CCDS42614.1	ENSP00000315997		A0A087WSV6	UPI00034F23AA	NM_001081637.2			15/15		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF117											1						LOW		SNV	5		1	1										PASS		.	.												A	2	1	31	54636821	54636821	C	A	1	0	0	0	0	0	0	0	1	8698	610	22	2		2	LILRB1	19	54636821	Silent	SNP	C	C3L-02345_TP	128826	54636821	3980795	217	9301											
PEG3	0	.	GRCh38	chr19	56815104	56815104	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagatccacaaagcccaggCcacagtcctcacattcatag	13	7	7	14	0	2	1	2	1	0	1	4	2	4	1	4	1	1	0	4	1	2	2	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.3338G>T	p.Gly1113Val	p.G1113V	ENST00000326441	10/10	79	58	21	102	102	0	strelka-varscan-mutect	PEG3,missense_variant,p.Gly1113Val,ENST00000326441,NM_001146186.1,NM_001146184.1,NM_006210.2;PEG3,missense_variant,p.Gly989Val,ENST00000598410,NM_001146187.1;PEG3,missense_variant,p.Gly1113Val,ENST00000599534,;PEG3,missense_variant,p.Gly1113Val,ENST00000599577,;PEG3,missense_variant,p.Gly987Val,ENST00000593695,NM_001146185.1;ZIM2,intron_variant,,ENST00000629319,NM_001146326.1,NM_001146327.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000593711,NM_015363.4;ZIM2,intron_variant,,ENST00000601070,;PEG3,downstream_gene_variant,,ENST00000600833,;PEG3,upstream_gene_variant,,ENST00000599565,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	A	ENST00000326441	Transcript	missense_variant	3702/8723	3338/4767	1113/1588	G/V	gGc/gTc		1		-1	PEG3	HGNC	HGNC:8826	protein_coding	YES	CCDS12948.1	ENSP00000326581	Q9GZU2		UPI000006D36D	NM_001146186.1,NM_001146184.1,NM_006210.2	deleterious(0)		10/10		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	56815104	56815104	C	A	1	0	0	0	0	1	0	0	0	11808	739	26	2		2	PEG3	19	56815104	Missense_Mutation	SNP	C	C3L-02345_TP	2178283	56815104	1802512	218	9302											
ZNF329	0	.	GRCh38	chr19	58128283	58128283	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtacgcactctcgatgaaAgtcttgccacattctttaca	11	12	7	11	2	3	1	0	1	3	0	4	2	3	1	1	1	3	2	1	1	3	5	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.1221T>C	p.=	p.T407T	ENST00000597186	5/5	57	53	4	65	65	0	varscan-mutect	ZNF329,synonymous_variant,p.=,ENST00000597186,;ZNF329,synonymous_variant,p.=,ENST00000598312,NM_024620.3;ZNF329,synonymous_variant,p.=,ENST00000358067,;ZNF329,downstream_gene_variant,,ENST00000601887,;ZNF329,synonymous_variant,p.=,ENST00000500161,;	G	ENST00000597186	Transcript	synonymous_variant	1899/3930	1221/1626	407/541	T	acT/acC		1		-1	ZNF329	HGNC	HGNC:14209	protein_coding	YES	CCDS12972.1	ENSP00000470323	Q86UD4	A0A024R4Q4	UPI0000246E79				5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF118,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	31	58128283	58128283	A	G	1	0	0	0	0	0	0	0	1	18419	59	3	5		5	ZNF329	19	58128283	Silent	SNP	A	C3L-02345_TP	1313179	58128283	489333	219	9303											
TCF15	0	.	GRCh38	chr20	609994	609994	+	Silent	SNP	G	G	T																															cacgctctgagtgcggtcccGctcccgcgcgttggccgcct																								novel		C3L-02345_TP	C3L-02345_NB	G	G																c.244C>A	p.=	p.R82R	ENST00000246080	1/2	142	108	34	65	64	1	strelka-varscan-mutect	TCF15,synonymous_variant,p.=,ENST00000246080,NM_004609.3;	T	ENST00000246080	Transcript	synonymous_variant	405/1555	244/600	82/199	R	Cgg/Agg		1		-1	TCF15	HGNC	HGNC:11627	protein_coding	YES	CCDS33432.1	ENSP00000246080	Q12870		UPI000013CBD4	NM_004609.3			1/2		Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF4,Low_complexity_(Seg):seg,SMART_domains:SM00353,Superfamily_domains:SSF47459																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	31	609994	609994	G	T	1	0	0	0	0	0	0	0	1	16095	1086	38	1		1	TCF15	20	609994	Silent	SNP	G	C3L-02345_TP		609994	63834173	220	9304	209	2									
TCF15	0	.	GRCh38	chr20	609995	609995	+	Missense_Mutation	SNP	C	C	G																															acgctctgagtgcggtcccgCtcccgcgcgttggccgcctg																								novel		C3L-02345_TP	C3L-02345_NB	C	C																c.243G>C	p.Glu81Asp	p.E81D	ENST00000246080	1/2	140	108	32	66	66	0	strelka-varscan-mutect	TCF15,missense_variant,p.Glu81Asp,ENST00000246080,NM_004609.3;	G	ENST00000246080	Transcript	missense_variant	404/1555	243/600	81/199	E/D	gaG/gaC		1		-1	TCF15	HGNC	HGNC:11627	protein_coding	YES	CCDS33432.1	ENSP00000246080	Q12870		UPI000013CBD4	NM_004609.3	deleterious(0)		1/2		Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF4,Low_complexity_(Seg):seg,SMART_domains:SM00353,Superfamily_domains:SSF47459																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	31	609995	609995	C	G	1	0	0	0	0	1	0	0	0	16095	796	28	4		4	TCF15	20	609995	Missense_Mutation	SNP	C	C3L-02345_TP	1	609995	63834172	221	9305	209	2									
TMC2	0	.	GRCh38	chr20	2558520	2558520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgaggggaccccaggcagGcgcggagctcagcgaagcca	9	1	17	14	4	1	0	1	0	0	0	1	4	1	2	4	5	3	2	4	5	1	0	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.147G>T	p.Arg49Ser	p.R49S	ENST00000358864	3/20	402	307	95	370	369	1	strelka-varscan-mutect	TMC2,missense_variant,p.Arg49Ser,ENST00000358864,NM_080751.2;	T	ENST00000358864	Transcript	missense_variant	162/3169	147/2721	49/906	R/S	agG/agT		1		1	TMC2	HGNC	HGNC:16527	protein_coding	YES	CCDS13029.2	ENSP00000351732	Q8TDI7		UPI0000246C98	NM_080751.2	deleterious_low_confidence(0.01)		3/20		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF17																	MODERATE	1	SNV	1			1										PASS		rs1331512839	.												T	3	4	31	2558520	2558520	G	T	1	0	0	0	0	1	0	0	0	16431	1194	42	2		2	TMC2	20	2558520	Missense_Mutation	SNP	G	C3L-02345_TP	1948525	2558520	61885647	222	9306											
PROKR2	0	.	GRCh38	chr20	5313987	5313987	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtagttgacggaggcaCagagcacgtggccatgctcc	9	6	15	11	2	0	2	0	1	0	1	1	3	1	3	2	4	2	6	2	4	1	2	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.383G>T	p.Cys128Phe	p.C128F	ENST00000217270	1/2	168	120	48	174	173	1	strelka-varscan-mutect	PROKR2,missense_variant,p.Cys128Phe,ENST00000217270,NM_144773.2;	A	ENST00000217270	Transcript	missense_variant	383/1155	383/1155	128/384	C/F	tGt/tTt		1		-1	PROKR2	HGNC	HGNC:15836	protein_coding	YES	CCDS13089.1	ENSP00000217270	Q8NFJ6		UPI000003BCC6	NM_144773.2	deleterious(0)		1/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF234,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	5313987	5313987	C	A	1	0	0	0	0	1	0	0	0	12686	478	17	2		2	PROKR2	20	5313987	Missense_Mutation	SNP	C	C3L-02345_TP	2755467	5313987	59130180	223	9307											
NINL	0	.	GRCh38	chr20	25491468	25491468	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagaacagctctcgctcCgcctccacctcagaccgcag	8	6	7	20	3	2	2	1	0	1	2	6	2	5	2	6	0	2	3	6	0	1	0	rs774422757		C3L-02345_TP	C3L-02345_NB	C	C																c.1368G>T	p.=	p.A456A	ENST00000278886	11/24	178	147	31	187	187	0	strelka-varscan-mutect	NINL,synonymous_variant,p.=,ENST00000278886,NM_025176.4;NINL,synonymous_variant,p.=,ENST00000422516,NM_001318226.1;NINL,non_coding_transcript_exon_variant,,ENST00000489780,;NINL,intron_variant,,ENST00000461642,;	A	ENST00000278886	Transcript	synonymous_variant	1442/4969	1368/4149	456/1382	A	gcG/gcT	rs774422757	1		-1	NINL	HGNC	HGNC:29163	protein_coding	YES	CCDS33452.1	ENSP00000278886	Q9Y2I6		UPI0000206B64	NM_025176.4			11/24		hmmpanther:PTHR18905:SF12,hmmpanther:PTHR18905																	LOW	1	SNV	1			1										PASS		rs774422757	.												A	2	1	31	25491468	25491468	C	A	1	0	0	0	0	0	0	0	1	10455	639	23	1		1	NINL	20	25491468	Silent	SNP	C	C3L-02345_TP	20177481	25491468	38952699	224	9308											
DEFB115	0	.	GRCh38	chr20	31259511	31259511	+	Frame_Shift_Del	DEL	G	G	-																															tggcagatgcaggaaatcatGcaaagaaattgagaggaaga																								rs115431286		C3L-02345_TP	C3L-02345_NB	G	G																c.146delG	p.Cys49SerfsTer?	p.C49Sfs*?	ENST00000400552	2/2	116	88	28	148	148	0	sindel-pindel	DEFB115,frameshift_variant,p.Cys49SerfsTer?,ENST00000400552,NM_001037730.1;	-	ENST00000400552	Transcript	frameshift_variant	146/267	146/267	49/88	C/X	tGc/tc	rs115431286	1		1	DEFB115	HGNC	HGNC:18096	protein_coding	YES	CCDS42859.1	ENSP00000383398	Q30KQ5		UPI00005E4A74	NM_001037730.1			2/2		hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF20																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	31	31259511	31259511	G	-	1	0	1	0	1	0	0	0	0	4207	1319	46	0		0	DEFB115	20	31259511	Frame_Shift_Del	DEL	G	C3L-02345_TP	5768043	31259511	33184656	225	9309											
REM1	0	.	GRCh38	chr20	31476711	31476711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgctacttggagatcCtggagtggggaagaccagct	8	10	16	7	0	0	2	0	0	0	2	1	5	1	4	2	5	3	2	2	5	2	2	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.266C>G	p.Pro89Arg	p.P89R	ENST00000201979	2/5	176	136	40	172	172	0	strelka-varscan-mutect	REM1,missense_variant,p.Pro89Arg,ENST00000201979,NM_014012.5;DEFB124,upstream_gene_variant,,ENST00000317676,NM_001037500.1;DEFB124,non_coding_transcript_exon_variant,,ENST00000481595,;	G	ENST00000201979	Transcript	missense_variant	559/1665	266/897	89/298	P/R	cCt/cGt		1		1	REM1	HGNC	HGNC:15922	protein_coding	YES	CCDS13181.1	ENSP00000201979	O75628		UPI0000073CEB	NM_014012.5	tolerated(0.2)		2/5		Gene3D:3.40.50.300,Pfam_domain:PF00071,PIRSF_domain:PIRSF038017,Prints_domain:PR00449,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF260,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	31	31476711	31476711	C	G	1	0	0	0	0	1	0	0	0	13392	681	24	4		4	REM1	20	31476711	Missense_Mutation	SNP	C	C3L-02345_TP	217200	31476711	32967456	226	9310											
DLGAP4	0	.	GRCh38	chr20	36432288	36432288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggagcgggccaaggctGgggagcccaaacggcgcagc	10	1	18	12	3	0	0	0	0	0	0	0	2	0	2	2	6	4	3	2	6	3	0	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.571G>T	p.Gly191Trp	p.G191W	ENST00000373913	3/13	274	218	56	323	322	1	strelka-varscan-mutect	DLGAP4,missense_variant,p.Gly191Trp,ENST00000373913,NM_014902.5;DLGAP4,missense_variant,p.Gly191Trp,ENST00000339266,;DLGAP4,missense_variant,p.Gly191Trp,ENST00000401952,;DLGAP4,missense_variant,p.Gly191Trp,ENST00000373907,;	T	ENST00000373913	Transcript	missense_variant	1051/5056	571/2970	191/989	G/W	Ggg/Tgg		1		1	DLGAP4	HGNC	HGNC:24476	protein_coding	YES	CCDS13274.1	ENSP00000363023	Q9Y2H0		UPI000013D34B	NM_014902.5	deleterious(0.01)		3/13		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	36432288	36432288	G	T	1	0	0	0	0	1	0	0	0	4369	1348	47	2		2	DLGAP4	20	36432288	Missense_Mutation	SNP	G	C3L-02345_TP	4955577	36432288	28011879	227	9311											
SLC12A5	0	.	GRCh38	chr20	46043169	46043169	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagaacctctggagctcCtacctgaccaagggcgtgat	11	7	11	12	1	1	3	0	2	1	1	2	5	2	4	4	2	3	1	4	2	3	1			C3L-02345_TP	C3L-02345_NB	C	C																c.1152C>A	p.=	p.S384S	ENST00000454036	9/26	128	97	31	118	118	0	strelka-varscan-mutect	SLC12A5,synonymous_variant,p.=,ENST00000243964,NM_020708.4;SLC12A5,synonymous_variant,p.=,ENST00000454036,NM_001134771.1;SLC12A5,synonymous_variant,p.=,ENST00000616201,;SLC12A5,3_prime_UTR_variant,,ENST00000616933,;SLC12A5,intron_variant,,ENST00000616202,;SLC12A5,intron_variant,,ENST00000626937,;SLC12A5,intron_variant,,ENST00000539566,;SLC12A5,downstream_gene_variant,,ENST00000629054,;SLC12A5,downstream_gene_variant,,ENST00000625683,;SLC12A5,downstream_gene_variant,,ENST00000372315,;SLC12A5,downstream_gene_variant,,ENST00000622711,;SLC12A5,upstream_gene_variant,,ENST00000626144,;SLC12A5,upstream_gene_variant,,ENST00000608594,;	A	ENST00000454036	Transcript	synonymous_variant	1228/3593	1152/3420	384/1139	S	tcC/tcA	COSM5568164,COSM5568165	1		1	SLC12A5	HGNC	HGNC:13818	protein_coding	YES	CCDS46610.1	ENSP00000387694	Q9H2X9		UPI00015F4605	NM_001134771.1			9/26		hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF54,TIGRFAM_domain:TIGR00930											1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												A	2	1	31	46043169	46043169	C	A	1	0	0	0	0	0	0	0	1	14651	668	24	2		2	SLC12A5	20	46043169	Silent	SNP	C	C3L-02345_TP	9610881	46043169	18400998	228	9312											
OCSTAMP	0	.	GRCh38	chr20	46541593	46541593	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggatcccctaggggcAgctgctggccttggtgcctg	7	8	15	11	0	0	1	0	0	0	1	1	2	1	2	4	5	3	3	4	5	3	2	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.1382T>A	p.Leu461Gln	p.L461Q	ENST00000279028	3/3	323	252	71	308	307	1	strelka-varscan-mutect	OCSTAMP,missense_variant,p.Leu461Gln,ENST00000279028,NM_080721.2;	T	ENST00000279028	Transcript	missense_variant	1396/2043	1382/1701	461/566	L/Q	cTg/cAg		1		-1	OCSTAMP	HGNC	HGNC:16116	protein_coding	YES	CCDS54468.1	ENSP00000279028	Q9BR26		UPI00006C1A90	NM_080721.2	deleterious(0.03)		3/3		hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	31	46541593	46541593	A	T	1	0	0	0	0	1	0	0	0	10901	188	7	4		4	OCSTAMP	20	46541593	Missense_Mutation	SNP	A	C3L-02345_TP	498424	46541593	17902574	229	9313											
MOCS3	0	.	GRCh38	chr20	50960009	50960009	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcggagagcctgaaactcttAaaagaagcaatctgggaaga	16	6	12	7	1	2	4	0	1	2	3	2	6	2	5	1	2	3	1	1	2	6	1	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.1167A>G	p.=	p.L389L	ENST00000244051	1/1	259	205	54	275	275	0	strelka-varscan-mutect	MOCS3,synonymous_variant,p.=,ENST00000244051,NM_014484.4;DPM1,upstream_gene_variant,,ENST00000371582,NM_001317035.1;DPM1,upstream_gene_variant,,ENST00000371588,NM_003859.1;DPM1,upstream_gene_variant,,ENST00000371584,;DPM1,upstream_gene_variant,,ENST00000413082,;DPM1,upstream_gene_variant,,ENST00000466152,;	G	ENST00000244051	Transcript	synonymous_variant	1184/5106	1167/1383	389/460	L	ttA/ttG		1		1	MOCS3	HGNC	HGNC:15765	protein_coding	YES	CCDS13435.1	ENSP00000244051	O95396		UPI000012F369	NM_014484.4			1/1		Gene3D:3.40.250.10,HAMAP:MF_03049,Pfam_domain:PF00581,PROSITE_profiles:PS50206,hmmpanther:PTHR10953,SMART_domains:SM00450,Superfamily_domains:SSF69572																	LOW		SNV				1										PASS		.	.												G	2	3	31	50960009	50960009	A	G	1	0	0	0	0	0	0	0	1	9655	359	13	5		5	MOCS3	20	50960009	Silent	SNP	A	C3L-02345_TP	4418416	50960009	13484158	230	9314											
ZBP1	0	.	GRCh38	chr20	57611889	57611889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccccaagttgaggaatCacctggtgccattgaaggga	10	8	13	10	0	1	2	1	2	0	0	2	4	2	4	4	4	1	1	4	4	3	2	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.712G>T	p.Asp238Tyr	p.D238Y	ENST00000371173	6/8	223	186	37	219	219	0	strelka-varscan-mutect	ZBP1,missense_variant,p.Asp238Tyr,ENST00000371173,NM_001160417.1,NM_030776.2;ZBP1,missense_variant,p.Asp163Tyr,ENST00000395822,NM_001160418.1;ZBP1,downstream_gene_variant,,ENST00000541799,NM_001160419.2;ZBP1,upstream_gene_variant,,ENST00000453793,;ZBP1,downstream_gene_variant,,ENST00000538947,;ZBP1,downstream_gene_variant,,ENST00000432548,;ZBP1,downstream_gene_variant,,ENST00000546110,;ZBP1,non_coding_transcript_exon_variant,,ENST00000461547,;ZBP1,downstream_gene_variant,,ENST00000480037,;	A	ENST00000371173	Transcript	missense_variant	890/2195	712/1290	238/429	D/Y	Gat/Tat		1		-1	ZBP1	HGNC	HGNC:16176	protein_coding	YES	CCDS13461.1	ENSP00000360215	Q9H171		UPI000013CB5B	NM_001160417.1,NM_030776.2	deleterious(0.01)		6/8		hmmpanther:PTHR14966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	57611889	57611889	C	A	1	0	0	0	0	1	0	0	0	18087	826	29	2		2	ZBP1	20	57611889	Missense_Mutation	SNP	C	C3L-02345_TP	6651880	57611889	6832278	231	9315											
IFNAR1	0	.	GRCh38	chr21	33345275	33345275	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactacctccaccagaaaatAtagaagtcagtgtccaaaat	18	8	5	10	0	1	2	1	0	0	2	3	2	3	2	4	0	2	0	4	0	9	3			C3L-02345_TP	C3L-02345_NB	A	A																c.703A>T	p.Ile235Leu	p.I235L	ENST00000270139	6/11	157	112	45	229	229	0	strelka-varscan-mutect	IFNAR1,missense_variant,p.Ile235Leu,ENST00000270139,NM_000629.2;IFNAR1,missense_variant,p.Ile136Leu,ENST00000442071,;	T	ENST00000270139	Transcript	missense_variant	855/6139	703/1674	235/557	I/L	Ata/Tta	COSM3708025,COSM5629585	1		1	IFNAR1	HGNC	HGNC:5432	protein_coding	YES	CCDS13624.1	ENSP00000270139	P17181		UPI000006FE3C	NM_000629.2	tolerated(0.52)		6/11		PROSITE_profiles:PS50853,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF54,Gene3D:2.60.40.10,PIRSF_domain:PIRSF016567,Superfamily_domains:SSF49265											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	31	33345275	33345275	A	T	1	0	0	0	0	1	0	0	0	7444	449	16	4		4	IFNAR1	21	33345275	Missense_Mutation	SNP	A	C3L-02345_TP		33345275	13364708	232	9316											
CRYBB1	0	.	GRCh38	chr22	26601947	26601947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagagactgggtgcgtcGtccccctggatctctatggt	6	10	12	13	2	1	1	0	0	1	1	4	3	2	2	3	3	1	0	3	3	1	1	rs549883505		C3L-02345_TP	C3L-02345_NB	G	G																c.507C>T	p.=	p.D169D	ENST00000215939	5/6	521	427	94	559	559	0	strelka-varscan-mutect	CRYBB1,synonymous_variant,p.=,ENST00000215939,NM_001887.3;	A	ENST00000215939	Transcript	synonymous_variant	638/1102	507/759	169/252	D	gaC/gaT	rs549883505,COSM183939	1		-1	CRYBB1	HGNC	HGNC:2397	protein_coding	YES	CCDS13840.1	ENSP00000215939	P53674		UPI000000165D	NM_001887.3			5/6		PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF12,Gene3D:2.60.20.10,Pfam_domain:PF00030,SMART_domains:SM00247,Superfamily_domains:SSF49695,Prints_domain:PR01367											0,1						LOW	1	SNV	1		0,1	1										PASS		rs549883505	.												A	2	1	31	26601947	26601947	G	A	1	0	0	0	0	0	0	0	1	3712	1136	40	1		1	CRYBB1	22	26601947	Silent	SNP	G	C3L-02345_TP		26601947	24216521	233	9317											
SEC14L2	0	.	GRCh38	chr22	30410642	30410642	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctcatcaaacccttcctGagtgaggacactcgtaagaa	14	8	7	12	1	2	3	2	2	0	1	4	4	3	4	3	1	2	1	3	1	4	2	rs749351257		C3L-02345_TP	C3L-02345_NB	G	G																c.627G>C	p.=	p.L209L	ENST00000615189	8/12	180	150	30	179	179	0	strelka-varscan-mutect	SEC14L2,synonymous_variant,p.=,ENST00000615189,NM_012429.4;SEC14L2,synonymous_variant,p.=,ENST00000617837,NM_001291932.1;SEC14L2,synonymous_variant,p.=,ENST00000405717,NM_033382.2;RP4-539M6.19,synonymous_variant,p.=,ENST00000439838,;SEC14L2,synonymous_variant,p.=,ENST00000402592,NM_001204204.2;SEC14L2,synonymous_variant,p.=,ENST00000428195,;RP4-539M6.19,synonymous_variant,p.=,ENST00000439023,;RNF215,intron_variant,,ENST00000431544,;SEC14L2,downstream_gene_variant,,ENST00000429917,;SEC14L2,downstream_gene_variant,,ENST00000415072,;SEC14L2,downstream_gene_variant,,ENST00000459728,;SEC14L2,downstream_gene_variant,,ENST00000416523,;RP4-539M6.19,synonymous_variant,p.=,ENST00000454552,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000619483,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000620251,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000464335,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000483116,;SEC14L2,downstream_gene_variant,,ENST00000452649,;SEC14L2,downstream_gene_variant,,ENST00000437022,;	C	ENST00000615189	Transcript	synonymous_variant	887/4382	627/1212	209/403	L	ctG/ctC	rs749351257	1		1	SEC14L2	HGNC	HGNC:10699	protein_coding	YES	CCDS13876.1	ENSP00000478755	O76054	A0A024R1I5	UPI0000135433	NM_012429.4			8/12		Gene3D:3.40.525.10,Pfam_domain:PF00650,Prints_domain:PR00180,PROSITE_profiles:PS50191,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF64,SMART_domains:SM00516,Superfamily_domains:SSF52087																	LOW	1	SNV	1			1										PASS		rs749351257	.												C	2	2	31	30410642	30410642	G	C	1	0	0	0	0	0	0	0	1	14258	1277	45	4		4	SEC14L2	22	30410642	Silent	SNP	G	C3L-02345_TP	3808695	30410642	20407826	234	9318											
PHF21B	0	.	GRCh38	chr22	44914031	44914031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgaggggaagagaggaggGgtggaggggacagtgatggg	10	4	26	1	0	0	3	0	2	0	1	0	8	0	7	0	10	0	0	0	10	1	0	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.622C>A	p.Pro208Thr	p.P208T	ENST00000313237	5/13	54	37	17	57	57	0	strelka-varscan-mutect	PHF21B,missense_variant,p.Pro208Thr,ENST00000313237,NM_138415.4;PHF21B,intron_variant,,ENST00000403565,NM_001284296.1;PHF21B,intron_variant,,ENST00000396103,NM_001242450.1;PHF21B,intron_variant,,ENST00000629843,NM_001135862.2;PHF21B,intron_variant,,ENST00000420689,;PHF21B,intron_variant,,ENST00000414269,;PHF21B,downstream_gene_variant,,ENST00000490679,;PHF21B,downstream_gene_variant,,ENST00000460507,;PHF21B,downstream_gene_variant,,ENST00000474327,;	T	ENST00000313237	Transcript	missense_variant	773/3671	622/1596	208/531	P/T	Ccc/Acc		1		-1	PHF21B	HGNC	HGNC:25161	protein_coding	YES	CCDS14061.1	ENSP00000324403	Q96EK2	A0A0S2Z6R3	UPI0000072111	NM_138415.4	tolerated_low_confidence(0.46)		5/13		hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF18,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1211467722	.												T	3	4	31	44914031	44914031	G	T	1	0	0	0	0	1	0	0	0	11920	1232	43	2		2	PHF21B	22	44914031	Missense_Mutation	SNP	G	C3L-02345_TP	14503389	44914031	5904437	235	9319											
SHOX	0	.	GRCh38	chrX	644446	644446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcacccgcacctgcaccCgcacctggcggcgcacgcgc	5	2	12	22	8	0	0	0	0	0	0	0	0	0	0	4	2	1	5	4	2	0	0	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.689C>A	p.Pro230Gln	p.P230Q	ENST00000381578	6/6	408	269	139	275	275	0	strelka-varscan-mutect	SHOX,missense_variant,p.Pro230Gln,ENST00000381578,NM_000451.3;SHOX,missense_variant,p.Pro230Gln,ENST00000554971,;SHOX,intron_variant,,ENST00000334060,NM_006883.2;SHOX,intron_variant,,ENST00000381575,;	A	ENST00000381578	Transcript	missense_variant	1380/3757	689/879	230/292	P/Q	cCg/cAg		1		1	SHOX	HGNC	HGNC:10853	protein_coding	YES	CCDS14107.1	ENSP00000370990	O15266	A0A024R385	UPI0000053471	NM_000451.3	deleterious(0.02)		6/6		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF290,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	31	644446	644446	C	A	1	0	0	0	0	1	0	0	0	14551	652	23	1		1	SHOX	23	644446	Missense_Mutation	SNP	C	C3L-02345_TP		644446	155396449	236	9320											
MXRA5	0	.	GRCh38	chrX	3311517	3311517	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagcaccacgtagtcaTcaccaaccttatttcgagct	10	12	6	13	2	2	1	2	1	0	0	3	2	2	1	3	0	3	3	3	0	3	4	novel		C3L-02345_TP	C3L-02345_NB	T	T																c.6686A>G	p.Asp2229Gly	p.D2229G	ENST00000217939	7/7	475	407	68	396	396	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Asp2229Gly,ENST00000217939,NM_015419.3;	C	ENST00000217939	Transcript	missense_variant	6841/9793	6686/8487	2229/2828	D/G	gAt/gGt		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	deleterious(0)		7/7		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	31	3311517	3311517	T	C	1	0	0	0	0	1	0	0	0	10002	1435	50	5		5	MXRA5	23	3311517	Missense_Mutation	SNP	T	C3L-02345_TP	2667071	3311517	152729378	237	9321											
NLGN4X	0	.	GRCh38	chrX	5893661	5893661	+	Frame_Shift_Del	DEL	G	G	-																															cctgaggaactggttgatttGgatcactgaggatagaagga																								novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1607delC	p.Pro536GlnfsTer39	p.P536Qfs*39	ENST00000381095	6/6	257	171	86	312	312	0	sindel-varindel-pindel	NLGN4X,frameshift_variant,p.Pro536GlnfsTer39,ENST00000381095,NM_181332.2,NM_001282145.1;NLGN4X,frameshift_variant,p.Pro536GlnfsTer39,ENST00000381093,NM_001282146.1;NLGN4X,frameshift_variant,p.Pro536GlnfsTer39,ENST00000275857,NM_020742.3;NLGN4X,frameshift_variant,p.Pro536GlnfsTer39,ENST00000381092,;NLGN4X,frameshift_variant,p.Pro537GlnfsTer39,ENST00000538097,;NLGN4X,intron_variant,,ENST00000477079,;	-	ENST00000381095	Transcript	frameshift_variant	2235/5870	1607/2451	536/816	P/X	cCa/ca		1		-1	NLGN4X	HGNC	HGNC:14287	protein_coding	YES	CCDS14126.1	ENSP00000370485	Q8N0W4	A0A024RBV0	UPI0000072EC5	NM_181332.2,NM_001282145.1			6/6		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF260,Superfamily_domains:SSF53474																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	31	5893661	5893661	G	-	1	0	1	0	1	0	0	0	0	10501	1362	47	0		0	NLGN4X	23	5893661	Frame_Shift_Del	DEL	G	C3L-02345_TP	2582144	5893661	150147234	238	9322											
ARHGAP6	0	.	GRCh38	chrX	11169577	11169577	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgtgctctcctcagcccgGgctgaactctgaactgagaa	8	8	11	14	2	3	3	1	3	2	1	4	4	3	3	3	1	4	2	3	1	3	0	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1737C>A	p.=	p.A579A	ENST00000337414	9/13	156	105	51	144	144	0	strelka-varscan-mutect	ARHGAP6,synonymous_variant,p.=,ENST00000337414,NM_013427.2;ARHGAP6,synonymous_variant,p.=,ENST00000303025,NM_013423.2;ARHGAP6,synonymous_variant,p.=,ENST00000380736,NM_001287242.1;ARHGAP6,synonymous_variant,p.=,ENST00000380718,NM_006125.2;ARHGAP6,synonymous_variant,p.=,ENST00000380717,;ARHGAP6,non_coding_transcript_exon_variant,,ENST00000491514,;ARHGAP6,synonymous_variant,p.=,ENST00000495242,;ARHGAP6,non_coding_transcript_exon_variant,,ENST00000489330,;	T	ENST00000337414	Transcript	synonymous_variant	2610/5117	1737/2925	579/974	A	gcC/gcA		1		-1	ARHGAP6	HGNC	HGNC:676	protein_coding	YES	CCDS14140.1	ENSP00000338967	O43182		UPI00001AED54	NM_013427.2			9/13		Gene3D:1.10.555.10,PROSITE_profiles:PS50238,hmmpanther:PTHR12635,hmmpanther:PTHR12635:SF6,SMART_domains:SM00324,Superfamily_domains:SSF48350																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	31	11169577	11169577	G	T	1	0	0	0	0	0	0	0	1	1017	1219	43	2		2	ARHGAP6	23	11169577	Silent	SNP	G	C3L-02345_TP	5275916	11169577	144871318	239	9323											
AMELX	0	.	GRCh38	chrX	11298886	11298886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccacctctgcctccgatGttccccatgcagcccctgcc	5	8	7	21	1	1	0	0	0	1	0	3	1	3	0	9	0	5	2	9	0	0	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.525G>A	p.Met175Ile	p.M175I	ENST00000380712	6/7	218	179	39	175	175	0	strelka-varscan-mutect	AMELX,missense_variant,p.Met175Ile,ENST00000380712,NM_182680.1;AMELX,missense_variant,p.Met161Ile,ENST00000380714,NM_001142.2;AMELX,missense_variant,p.Met145Ile,ENST00000348912,NM_182681.1;ARHGAP6,intron_variant,,ENST00000337414,NM_013427.2;ARHGAP6,intron_variant,,ENST00000380736,NM_001287242.1;ARHGAP6,intron_variant,,ENST00000380718,NM_006125.2;ARHGAP6,intron_variant,,ENST00000489330,;ARHGAP6,intron_variant,,ENST00000495242,;	A	ENST00000380712	Transcript	missense_variant	593/835	525/618	175/205	M/I	atG/atA		1		1	AMELX	HGNC	HGNC:461	protein_coding	YES	CCDS14145.1	ENSP00000370088	Q99217		UPI000002A3B7	NM_182680.1	tolerated(1)		6/7		Low_complexity_(Seg):seg,hmmpanther:PTHR10039,hmmpanther:PTHR10039:SF7,Pfam_domain:PF02948,SMART_domains:SM00818																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	11298886	11298886	G	A	1	0	0	0	0	1	0	0	0	665	1377	48	3		3	AMELX	23	11298886	Missense_Mutation	SNP	G	C3L-02345_TP	129309	11298886	144742009	240	9324											
MAGEB17	0	.	GRCh38	chrX	16171102	16171102	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaagcacttcatctatggGgagccccaggagcttgtcac	10	8	12	11	0	3	0	2	0	1	0	3	3	3	3	2	4	3	2	2	4	2	3	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.720G>T	p.=	p.G240G	ENST00000400004	2/2	168	113	55	175	175	0	strelka-varscan-mutect	MAGEB17,synonymous_variant,p.=,ENST00000400004,NM_001277307.1;MAGEB17,synonymous_variant,p.=,ENST00000400003,;RP11-431J24.2,upstream_gene_variant,,ENST00000435789,;	T	ENST00000400004	Transcript	synonymous_variant	1072/1434	720/1011	240/336	G	ggG/ggT		1		1	MAGEB17	HGNC	HGNC:17418	protein_coding	YES	CCDS59524.1	ENSP00000382884	A8MXT2		UPI00001602F1	NM_001277307.1			2/2		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF67,Pfam_domain:PF01454,SMART_domains:SM01373																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	31	16171102	16171102	G	T	1	0	0	0	0	0	0	0	1	9090	1219	43	2		2	MAGEB17	23	16171102	Silent	SNP	G	C3L-02345_TP	4872216	16171102	139869793	241	9325											
KLHL34	0	.	GRCh38	chrX	21655977	21655977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcaacgcgcagccgatGtcctcccaacggtccaggtc	8	5	12	16	4	0	0	0	0	0	0	4	1	3	0	4	3	3	2	4	3	2	0	rs761704504		C3L-02345_TP	C3L-02345_NB	G	G																c.1812C>A	p.Asp604Glu	p.D604E	ENST00000379499	1/1	210	181	29	143	143	0	strelka-varscan-mutect	KLHL34,missense_variant,p.Asp604Glu,ENST00000379499,NM_153270.2;CNKSR2,downstream_gene_variant,,ENST00000425654,NM_001168647.1;CNKSR2,downstream_gene_variant,,ENST00000379510,NM_014927.3;	T	ENST00000379499	Transcript	missense_variant	2354/3641	1812/1935	604/644	D/E	gaC/gaA	rs761704504	1		-1	KLHL34	HGNC	HGNC:26634	protein_coding	YES	CCDS14199.1	ENSP00000368813	Q8N239		UPI0000072CC4	NM_153270.2	tolerated(1)		1/1		Superfamily_domains:0052715,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF199																	MODERATE		SNV				1										PASS		rs761704504	.												T	3	4	31	21655977	21655977	G	T	1	0	0	0	0	1	0	0	0	8253	1368	48	2		2	KLHL34	23	21655977	Missense_Mutation	SNP	G	C3L-02345_TP	5484875	21655977	134384918	242	9326											
MAGEB5	0	.	GRCh38	chrX	26217480	26217480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagttcaaaatgaaacagcGtattttgaaggaagatatgc	17	10	9	5	1	1	3	1	2	0	1	1	4	1	4	0	1	3	2	0	1	8	5	rs754656027		C3L-02345_TP	C3L-02345_NB	G	G																c.179G>T	p.Arg60Leu	p.R60L	ENST00000602297	2/2	176	122	54	211	210	1	strelka-varscan-mutect	MAGEB5,missense_variant,p.Arg60Leu,ENST00000602297,NM_001271752.1;	T	ENST00000602297	Transcript	missense_variant	426/1216	179/828	60/275	R/L	cGt/cTt	rs754656027	1		1	MAGEB5	HGNC	HGNC:23795	protein_coding	YES	CCDS65233.1	ENSP00000473493	Q9BZ81		UPI0000237754	NM_001271752.1	tolerated(0.08)		2/2		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF35,SMART_domains:SM01373																	MODERATE	1	SNV	3			1										PASS		rs754656027	.												T	3	4	31	26217480	26217480	G	T	1	0	0	0	0	1	0	0	0	9095	1145	40	1		1	MAGEB5	23	26217480	Missense_Mutation	SNP	G	C3L-02345_TP	4561503	26217480	129823415	243	9327											
FAM47A	0	.	GRCh38	chrX	34130560	34130560	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtaggatgctcgaatcttGggaggctccgagaattgatg	10	11	14	6	2	1	2	0	1	1	1	3	6	2	4	1	3	1	3	1	3	3	3	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1719C>A	p.=	p.P573P	ENST00000346193	1/1	298	251	47	259	259	0	strelka-varscan-mutect	FAM47A,synonymous_variant,p.=,ENST00000346193,NM_203408.3;FAM47A,synonymous_variant,p.=,ENST00000613251,;	T	ENST00000346193	Transcript	synonymous_variant	1752/2556	1719/2376	573/791	P	ccC/ccA		1		-1	FAM47A	HGNC	HGNC:29962	protein_coding	YES	CCDS43926.1	ENSP00000345029	Q5JRC9		UPI000013F1F4	NM_203408.3			1/1		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF200																	LOW	1	SNV				1										PASS		.	.												T	2	4	31	34130560	34130560	G	T	1	0	0	0	0	0	0	0	1	5447	1335	47	2		2	FAM47A	23	34130560	Silent	SNP	G	C3L-02345_TP	7913080	34130560	121910335	244	9328											
XK	0	.	GRCh38	chrX	37727900	37727900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctggatcctcttctggtGcagtggttccccattccctg	3	13	9	16	0	2	0	0	0	2	0	5	1	5	1	6	3	1	2	6	3	0	3	rs137995644		C3L-02345_TP	C3L-02345_NB	G	G																c.773G>T	p.Cys258Phe	p.C258F	ENST00000378616	3/3	384	271	113	389	388	1	strelka-varscan-mutect	XK,missense_variant,p.Cys258Phe,ENST00000378616,NM_021083.2;RP5-972B16.2,intron_variant,,ENST00000465127,;	T	ENST00000378616	Transcript	missense_variant	976/5206	773/1335	258/444	C/F	tGc/tTc	rs137995644	1		1	XK	HGNC	HGNC:12811	protein_coding	YES	CCDS14241.1	ENSP00000367879	P51811		UPI0000139000	NM_021083.2	tolerated(0.7)		3/3		Pfam_domain:PF09815,hmmpanther:PTHR14297,hmmpanther:PTHR14297:SF8																	MODERATE	1	SNV	1			1										PASS		rs137995644	.												T	3	4	31	37727900	37727900	G	T	1	0	0	0	0	1	0	0	0	17990	1319	46	2		2	XK	23	37727900	Missense_Mutation	SNP	G	C3L-02345_TP	3597340	37727900	118312995	245	9329											
RBM10	0	.	GRCh38	chrX	47171162	47171162	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactatcggaccgagcaaggGgaggaggaggaggaggagga	13	2	21	5	2	0	0	0	0	0	0	1	10	0	8	1	9	1	1	1	9	2	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.531G>T	p.=	p.G177G	ENST00000329236	4/24	220	190	30	239	239	0	strelka-varscan-mutect	RBM10,synonymous_variant,p.=,ENST00000377604,NM_005676.4,NM_001204467.1;RBM10,synonymous_variant,p.=,ENST00000329236,NM_001204468.1;RBM10,intron_variant,,ENST00000345781,NM_001204466.1;RBM10,intron_variant,,ENST00000628161,NM_152856.2;RBM10,upstream_gene_variant,,ENST00000496012,;	T	ENST00000329236	Transcript	synonymous_variant	531/3201	531/2988	177/995	G	ggG/ggT		1		1	RBM10	HGNC	HGNC:9896	protein_coding	YES	CCDS75969.1	ENSP00000328848		A0A0A0MR66	UPI0000211F0E	NM_001204468.1			4/24		Gene3D:3.30.70.330,hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF4																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	31	47171162	47171162	G	T	1	0	0	0	0	0	0	0	1	13277	1219	43	2		2	RBM10	23	47171162	Silent	SNP	G	C3L-02345_TP	9443262	47171162	108869733	246	9330											
SYN1	0	.	GRCh38	chrX	47575151	47575151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccatgggagcccctgccagGggaggcatcccgctgtcgct	5	6	15	15	2	0	0	0	0	0	0	2	2	1	2	5	4	2	3	5	4	0	0	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1282C>T	p.Pro428Ser	p.P428S	ENST00000295987	10/13	197	164	33	164	164	0	strelka-varscan-mutect	SYN1,missense_variant,p.Pro428Ser,ENST00000295987,NM_006950.3;SYN1,missense_variant,p.Pro428Ser,ENST00000340666,NM_133499.2;ARAF,downstream_gene_variant,,ENST00000290277,NM_001256196.1;ARAF,downstream_gene_variant,,ENST00000377045,NM_001654.4;ARAF,downstream_gene_variant,,ENST00000470206,;ARAF,downstream_gene_variant,,ENST00000469505,;	A	ENST00000295987	Transcript	missense_variant	1407/3209	1282/2118	428/705	P/S	Cct/Tct		1		-1	SYN1	HGNC	HGNC:11494	protein_coding	YES	CCDS14280.1	ENSP00000295987	P17600		UPI0000167B47	NM_006950.3	tolerated(0.16)		10/13		hmmpanther:PTHR10841:SF22,hmmpanther:PTHR10841																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	31	47575151	47575151	G	A	1	0	0	0	0	1	0	0	0	15830	1232	43	3		3	SYN1	23	47575151	Missense_Mutation	SNP	G	C3L-02345_TP	403989	47575151	108465744	247	9331											
ZNF81	0	.	GRCh38	chrX	47915217	47915217	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcacagaaaagaccccatAaacgtgattcatttgggaag	15	10	8	8	1	2	3	2	1	0	2	2	4	2	4	2	1	1	0	2	1	5	4	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.571A>C	p.Lys191Gln	p.K191Q	ENST00000376954	6/6	116	86	30	155	155	0	strelka-varscan-mutect	ZNF81,missense_variant,p.Lys191Gln,ENST00000376954,;ZNF81,missense_variant,p.Lys191Gln,ENST00000338637,NM_007137.3;ZNF81,intron_variant,,ENST00000376950,;	C	ENST00000376954	Transcript	missense_variant	939/7933	571/1986	191/661	K/Q	Aaa/Caa		1		1	ZNF81	HGNC	HGNC:13156	protein_coding	YES	CCDS43933.1	ENSP00000366153	P51508		UPI000023FCDA		tolerated(0.19)		6/6																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	31	47915217	47915217	A	C	1	0	0	0	0	1	0	0	0	18759	363	13	5		5	ZNF81	23	47915217	Missense_Mutation	SNP	A	C3L-02345_TP	340066	47915217	108125678	248	9332											
ZNF630	0	.	GRCh38	chrX	48059134	48059134	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggcagaaagttttcccAcattcaccacacttataggg	11	12	8	10	0	1	1	1	0	0	1	2	1	2	1	2	2	0	3	2	2	3	6	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.1308T>A	p.Cys436Ter	p.C436*	ENST00000442455	5/5	291	204	87	285	285	0	strelka-varscan-mutect	ZNF630,stop_gained,p.Cys436Ter,ENST00000442455,NM_001190255.2,NM_001282201.1;ZNF630,stop_gained,p.Cys312Ter,ENST00000276054,NM_001282202.1;ZNF630,stop_gained,p.Cys436Ter,ENST00000409324,NM_001037735.3;ZNF630,stop_gained,p.Cys422Ter,ENST00000616492,;ZNF630,downstream_gene_variant,,ENST00000428686,;ZNF630,downstream_gene_variant,,ENST00000627643,;ZNF630,downstream_gene_variant,,ENST00000421903,;ZNF630-AS1,intron_variant,,ENST00000614448,;ZNF630,intron_variant,,ENST00000428463,;	T	ENST00000442455	Transcript	stop_gained	1875/2829	1308/1974	436/657	C/*	tgT/tgA		1		-1	ZNF630	HGNC	HGNC:28855	protein_coding	YES	CCDS35237.2	ENSP00000393163	Q2M218		UPI0000160BE4	NM_001190255.2,NM_001282201.1			5/5		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF216,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH		SNV	4			1										PASS		.	.												T	4	4	31	48059134	48059134	A	T	1	0	0	0	0	0	1	0	0	18629	157	6	4		4	ZNF630	23	48059134	Nonsense_Mutation	SNP	A	C3L-02345_TP	143917	48059134	107981761	249	9333											
MAGED1	0	.	GRCh38	chrX	51894636	51894636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttttccagaatcctgacGcttgtagagcagtctgtcac	8	15	8	10	1	2	3	1	1	1	2	4	3	4	3	2	0	1	3	2	0	2	5	rs781866143		C3L-02345_TP	C3L-02345_NB	G	G																c.55G>A	p.Ala19Thr	p.A19T	ENST00000375695	3/14	125	104	21	103	103	0	strelka-varscan-mutect	MAGED1,missense_variant,p.Ala19Thr,ENST00000375695,NM_001005333.1;MAGED1,intron_variant,,ENST00000375722,;MAGED1,intron_variant,,ENST00000326587,NM_006986.3;MAGED1,intron_variant,,ENST00000375772,NM_001005332.1;MAGED1,intron_variant,,ENST00000494718,;MAGED1,intron_variant,,ENST00000485420,;MAGED1,intron_variant,,ENST00000470461,;MAGED1,intron_variant,,ENST00000482188,;MAGED1,upstream_gene_variant,,ENST00000473931,;MAGED1,upstream_gene_variant,,ENST00000482599,;	A	ENST00000375695	Transcript	missense_variant	208/2875	55/2505	19/834	A/T	Gct/Act	rs781866143	1		1	MAGED1	HGNC	HGNC:6813	protein_coding	YES	CCDS35279.1	ENSP00000364847	Q9Y5V3		UPI0000074161	NM_001005333.1	tolerated_low_confidence(0.14)		3/14																			MODERATE	1	SNV	1			1										PASS		rs781866143	.												A	3	1	31	51894636	51894636	G	A	1	0	0	0	0	1	0	0	0	9101	1087	38	1		1	MAGED1	23	51894636	Missense_Mutation	SNP	G	C3L-02345_TP	3835502	51894636	104146259	250	9334											
HUWE1	0	.	GRCh38	chrX	53593504	53593504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccagcataagccaggCatctaggaattctcctgtgc	10	9	8	14	0	2	0	0	0	2	0	4	1	3	1	4	2	3	2	4	2	3	3	rs782060360		C3L-02345_TP	C3L-02345_NB	C	C																c.3601G>A	p.Ala1201Thr	p.A1201T	ENST00000342160	31/83	362	314	48	341	341	0	strelka-varscan-mutect	HUWE1,missense_variant,p.Ala1201Thr,ENST00000342160,;HUWE1,missense_variant,p.Ala1201Thr,ENST00000262854,NM_031407.6;HUWE1,missense_variant,p.Ala1192Thr,ENST00000612484,;HUWE1,non_coding_transcript_exon_variant,,ENST00000218328,;	T	ENST00000342160	Transcript	missense_variant	4059/14796	3601/13125	1201/4374	A/T	Gcc/Acc	rs782060360	1		-1	HUWE1	HGNC	HGNC:30892	protein_coding	YES	CCDS35301.1	ENSP00000340648	Q7Z6Z7	A0A024R9W5	UPI00004A0DAC		deleterious(0)		31/83		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF291																	MODERATE	1	SNV	5			1										PASS		rs782060360	.												T	3	4	31	53593504	53593504	C	T	1	0	0	0	0	1	0	0	0	7357	710	25	3		3	HUWE1	23	53593504	Missense_Mutation	SNP	C	C3L-02345_TP	1698868	53593504	102447391	251	9335											
HUWE1	0	.	GRCh38	chrX	53595215	53595215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagtaggtgtatatggtgGgggctgccaagataacccct	9	9	16	7	0	0	1	0	0	0	1	0	2	0	2	3	5	2	3	3	5	5	4	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.3352C>G	p.Pro1118Ala	p.P1118A	ENST00000342160	29/83	263	190	73	279	279	0	strelka-varscan-mutect	HUWE1,missense_variant,p.Pro1118Ala,ENST00000342160,;HUWE1,missense_variant,p.Pro1118Ala,ENST00000262854,NM_031407.6;HUWE1,missense_variant,p.Pro1109Ala,ENST00000612484,;HUWE1,non_coding_transcript_exon_variant,,ENST00000218328,;	C	ENST00000342160	Transcript	missense_variant	3810/14796	3352/13125	1118/4374	P/A	Cca/Gca		1		-1	HUWE1	HGNC	HGNC:30892	protein_coding	YES	CCDS35301.1	ENSP00000340648	Q7Z6Z7	A0A024R9W5	UPI00004A0DAC		tolerated(0.18)		29/83		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF291																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	31	53595215	53595215	G	C	1	0	0	0	0	1	0	0	0	7357	1232	43	4		4	HUWE1	23	53595215	Missense_Mutation	SNP	G	C3L-02345_TP	1711	53595215	102445680	252	9336											
SPIN4	0	.	GRCh38	chrX	63350771	63350771	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgccttttcttcatcaggtAtgcggacacgccatctaccc	7	12	8	14	2	4	0	2	0	2	0	4	1	4	1	3	2	3	1	3	2	2	5	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.49T>C	p.Tyr17His	p.Y17H	ENST00000374884	1/1	81	68	13	112	112	0	strelka-varscan-mutect	SPIN4,missense_variant,p.Tyr17His,ENST00000374884,NM_001012968.2;LINC01278,intron_variant,,ENST00000610234,;LINC01278,intron_variant,,ENST00000610088,;SPIN4-AS1,intron_variant,,ENST00000451979,;	G	ENST00000374884	Transcript	missense_variant	574/4117	49/750	17/249	Y/H	Tac/Cac		1		-1	SPIN4	HGNC	HGNC:27040	protein_coding	YES	CCDS43964.1	ENSP00000364018	Q56A73	X6R8Y7	UPI000013FD3C	NM_001012968.2	tolerated(0.32)		1/1		hmmpanther:PTHR10405,hmmpanther:PTHR10405:SF9																	MODERATE		SNV				1										PASS		.	.												G	3	3	31	63350771	63350771	A	G	1	0	0	0	0	1	0	0	0	15409	449	16	5		5	SPIN4	23	63350771	Missense_Mutation	SNP	A	C3L-02345_TP	9755556	63350771	92690124	253	9337											
AMER1	0	.	GRCh38	chrX	64190769	64190769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtagcccagctcaaaggCttccaaggaggctgcaagat	13	7	11	10	0	1	1	1	0	0	1	2	2	2	2	2	3	3	5	2	3	5	3	rs773987432		C3L-02345_TP	C3L-02345_NB	C	C																c.2518G>T	p.Ala840Ser	p.A840S	ENST00000330258	2/2	420	339	81	467	466	1	strelka-varscan-mutect	AMER1,missense_variant,p.Ala840Ser,ENST00000330258,NM_152424.3;AMER1,intron_variant,,ENST00000374869,;	A	ENST00000330258	Transcript	missense_variant	2791/8443	2518/3408	840/1135	A/S	Gcc/Tcc	rs773987432	1		-1	AMER1	HGNC	HGNC:26837	protein_coding	YES	CCDS14377.2	ENSP00000329117	Q5JTC6		UPI0000EDA0FC	NM_152424.3	deleterious(0.01)		2/2		hmmpanther:PTHR22237:SF0,hmmpanther:PTHR22237																	MODERATE	1	SNV	1			1										PASS		rs773987432	.												A	3	1	31	64190769	64190769	C	A	1	0	0	0	0	1	0	0	0	667	797	28	2		2	AMER1	23	64190769	Missense_Mutation	SNP	C	C3L-02345_TP	839998	64190769	91850126	254	9338											
HEPH	0	.	GRCh38	chrX	66197852	66197852	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggcctggtgggcccgctGctggtgtgcagggctggtgc	1	10	19	11	1	1	0	0	0	1	0	1	0	1	0	2	6	3	4	2	6	0	0	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1833G>T	p.=	p.L611L	ENST00000519389	10/21	328	272	56	330	330	0	strelka-varscan-mutect	HEPH,synonymous_variant,p.=,ENST00000519389,NM_138737.4;HEPH,synonymous_variant,p.=,ENST00000343002,;HEPH,synonymous_variant,p.=,ENST00000441993,NM_001130860.3;HEPH,synonymous_variant,p.=,ENST00000336279,NM_014799.3;HEPH,synonymous_variant,p.=,ENST00000425114,;HEPH,intron_variant,,ENST00000419594,NM_001282141.1;HEPH,upstream_gene_variant,,ENST00000471121,;	T	ENST00000519389	Transcript	synonymous_variant	2012/6013	1833/3639	611/1212	L	ctG/ctT		1		1	HEPH	HGNC	HGNC:4866	protein_coding	YES	CCDS14384.3	ENSP00000430620	Q9BQS7		UPI0001C06560	NM_138737.4			10/21		hmmpanther:PTHR10127:SF622,hmmpanther:PTHR10127,Gene3D:2.60.40.420,Pfam_domain:PF07732,Superfamily_domains:SSF49503																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	31	66197852	66197852	G	T	1	0	0	0	0	0	0	0	1	6938	1306	46	2		2	HEPH	23	66197852	Silent	SNP	G	C3L-02345_TP	2007083	66197852	89843043	255	9339											
MED12	0	.	GRCh38	chrX	71130108	71130108	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagacccagtgttgagtaGtgcccaggcgcagcgcctca	9	6	13	13	2	1	2	1	1	0	1	1	2	1	2	3	1	2	4	3	1	2	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.3941G>T	p.Ser1314Ile	p.S1314I	ENST00000374080	28/45	199	163	36	246	246	0	strelka-varscan-mutect	MED12,missense_variant,p.Ser1161Ile,ENST00000333646,;MED12,missense_variant,p.Ser1314Ile,ENST00000374102,;MED12,missense_variant,p.Ser1314Ile,ENST00000374080,NM_005120.2;MED12,downstream_gene_variant,,ENST00000462984,;MED12,downstream_gene_variant,,ENST00000471663,;MED12,downstream_gene_variant,,ENST00000489199,;MED12,downstream_gene_variant,,ENST00000460771,;	T	ENST00000374080	Transcript	missense_variant	3973/6795	3941/6534	1314/2177	S/I	aGt/aTt		1		1	MED12	HGNC	HGNC:11957	protein_coding	YES	CCDS43970.1	ENSP00000363193	Q93074		UPI00004257E2	NM_005120.2	tolerated(0.15)		28/45		hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	71130108	71130108	G	T	1	0	0	0	0	1	0	0	0	9367	1029	36	2		2	MED12	23	71130108	Missense_Mutation	SNP	G	C3L-02345_TP	4932256	71130108	84910787	256	9340											
OGT	0	.	GRCh38	chrX	71562942	71562942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgaagttgctgagcaGtattccgagaaattggctta	11	11	11	8	1	0	3	0	2	0	1	1	4	1	3	2	1	3	6	2	1	4	5	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.2073G>T	p.Gln691His	p.Q691H	ENST00000373719	16/22	114	87	27	122	122	0	strelka-varscan-mutect	OGT,missense_variant,p.Gln691His,ENST00000373719,NM_181672.2;OGT,missense_variant,p.Gln681His,ENST00000373701,NM_181673.2;OGT,non_coding_transcript_exon_variant,,ENST00000488174,;OGT,upstream_gene_variant,,ENST00000474633,;	T	ENST00000373719	Transcript	missense_variant	2290/5461	2073/3141	691/1046	Q/H	caG/caT		1		1	OGT	HGNC	HGNC:8127	protein_coding	YES	CCDS14414.1	ENSP00000362824	O15294		UPI0000073C9F	NM_181672.2	tolerated(0.56)		16/22		Pfam_domain:PF13844,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		rs1488273153	.												T	3	4	31	71562942	71562942	G	T	1	0	0	0	0	1	0	0	0	10922	1020	36	2		2	OGT	23	71562942	Missense_Mutation	SNP	G	C3L-02345_TP	432834	71562942	84477953	257	9341											
ABCB7	0	.	GRCh38	chrX	75076612	75076612	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacatctggttgaggctgtCtacagcatatttaaacatga	12	12	9	8	1	2	2	0	2	2	0	2	3	2	2	0	2	3	3	0	2	4	5	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.499G>T	p.Asp167Tyr	p.D167Y	ENST00000253577	5/16	439	352	87	515	515	0	strelka-varscan-mutect	ABCB7,missense_variant,p.Asp127Tyr,ENST00000620875,NM_001271699.1;ABCB7,missense_variant,p.Asp167Tyr,ENST00000253577,NM_004299.4;ABCB7,missense_variant,p.Asp166Tyr,ENST00000373394,NM_001271696.1;ABCB7,missense_variant,p.Asp126Tyr,ENST00000339447,NM_001271697.1;ABCB7,missense_variant,p.Asp140Tyr,ENST00000529949,NM_001271698.1;ABCB7,missense_variant,p.Asp111Tyr,ENST00000534524,;ABCB7,downstream_gene_variant,,ENST00000526404,;ABCB7,upstream_gene_variant,,ENST00000534570,;	A	ENST00000253577	Transcript	missense_variant	524/2377	499/2262	167/753	D/Y	Gac/Tac		1		-1	ABCB7	HGNC	HGNC:48	protein_coding	YES	CCDS14428.1	ENSP00000253577	O75027	A0A0S2Z2Z3	UPI0000169E78	NM_004299.4	deleterious(0)		5/16		PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF187,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	75076612	75076612	C	A	1	0	0	0	0	1	0	0	0	50	913	32	2		2	ABCB7	23	75076612	Missense_Mutation	SNP	C	C3L-02345_TP	3513670	75076612	80964283	258	9342											
PGAM4	0	.	GRCh38	chrX	77969119	77969119	+	Frame_Shift_Del	DEL	G	G	-																															acgtttcccctccttgatctGgggaactatttcttcattcc																								novel		C3L-02345_TP	C3L-02345_NB	G	G																c.520delC	p.Gln174ArgfsTer9	p.Q174Rfs*9	ENST00000458128	1/1	246	199	47	296	295	1	sindel-varindel-pindel	PGAM4,frameshift_variant,p.Gln174ArgfsTer9,ENST00000458128,NM_001029891.2;ATP7A,intron_variant,,ENST00000341514,NM_000052.6;ATP7A,intron_variant,,ENST00000343533,NM_001282224.1;RP5-1000K24.2,downstream_gene_variant,,ENST00000602791,;	-	ENST00000458128	Transcript	frameshift_variant	520/765	520/765	174/254	Q/X	Cag/ag		1		-1	PGAM4	HGNC	HGNC:21731	protein_coding	YES	CCDS35338.1	ENSP00000412189	Q8N0Y7		UPI0000131CD2	NM_001029891.2			1/1		HAMAP:MF_01039,hmmpanther:PTHR11931:SF14,hmmpanther:PTHR11931,Gene3D:3.40.50.1240,Pfam_domain:PF00300,TIGRFAM_domain:TIGR01258,SMART_domains:SM00855,Superfamily_domains:SSF53254																	HIGH		deletion				1										PASS		.	.												-	7	5	31	77969119	77969119	G	-	1	0	1	0	1	0	0	0	0	11865	1357	47	0		0	PGAM4	23	77969119	Frame_Shift_Del	DEL	G	C3L-02345_TP	2892507	77969119	78071776	259	9343											
KLHL4	0	.	GRCh38	chrX	87632254	87632254	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcaggaccaacagttggCtacatattggcaccatgaat	13	9	8	11	0	1	1	1	1	0	0	1	2	1	2	3	3	2	3	3	3	4	4	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1369C>A	p.Leu457Ile	p.L457I	ENST00000373114	7/11	146	125	21	153	153	0	varscan-mutect	KLHL4,missense_variant,p.Leu457Ile,ENST00000373119,NM_019117.4;KLHL4,missense_variant,p.Leu457Ile,ENST00000373114,NM_057162.2;	A	ENST00000373114	Transcript	missense_variant	1449/2445	1369/2163	457/720	L/I	Cta/Ata		1		1	KLHL4	HGNC	HGNC:6355	protein_coding	YES	CCDS14456.1	ENSP00000362206	Q9C0H6		UPI000002ACC4	NM_057162.2	tolerated(0.6)		7/11		Superfamily_domains:0052715,Gene3D:1k3iA02,Pfam_domain:PF01344,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF74,SMART_domains:SM00612																	MODERATE	1	SNV	1			1										PASS		rs1273051674	.												A	3	1	31	87632254	87632254	C	A	1	0	0	0	0	1	0	0	0	8257	796	28	2		2	KLHL4	23	87632254	Missense_Mutation	SNP	C	C3L-02345_TP	9663135	87632254	68408641	260	9344											
PCDH19	0	.	GRCh38	chrX	100407078	100407078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcctgagttgggattgatgGagacataggtgaagacaggc	11	8	16	6	1	0	5	0	3	0	2	0	7	0	6	1	4	0	1	1	4	2	3	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1520C>T	p.Ser507Phe	p.S507F	ENST00000373034	1/6	395	303	92	477	477	0	strelka-varscan-mutect	PCDH19,missense_variant,p.Ser507Phe,ENST00000373034,NM_001184880.1;PCDH19,missense_variant,p.Ser507Phe,ENST00000255531,NM_001105243.1;PCDH19,missense_variant,p.Ser507Phe,ENST00000420881,NM_020766.2;PCDH19,upstream_gene_variant,,ENST00000636150,;	A	ENST00000373034	Transcript	missense_variant	3196/9756	1520/3447	507/1148	S/F	tCc/tTc		1		-1	PCDH19	HGNC	HGNC:14270	protein_coding	YES	CCDS55462.1	ENSP00000362125	Q8TAB3		UPI00001D7BCD	NM_001184880.1	deleterious(0)		1/6		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF40,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	100407078	100407078	G	A	1	0	0	0	0	1	0	0	0	11601	1174	41	3		3	PCDH19	23	100407078	Missense_Mutation	SNP	G	C3L-02345_TP	12774824	100407078	55633817	261	9345											
SRPX2	0	.	GRCh38	chrX	100664927	100664927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaagatgggagatggaGtggaggcgagcctgtatgtg	10	8	19	4	1	0	2	0	0	0	2	0	7	0	5	1	5	1	1	1	5	2	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.509G>T	p.Ser170Ile	p.S170I	ENST00000373004	5/11	401	328	73	459	458	1	strelka-varscan-mutect	SRPX2,missense_variant,p.Ser170Ile,ENST00000373004,NM_014467.2;	T	ENST00000373004	Transcript	missense_variant	937/2138	509/1398	170/465	S/I	aGt/aTt		1		1	SRPX2	HGNC	HGNC:30668	protein_coding	YES	CCDS14471.1	ENSP00000362095	O60687		UPI000006CCC6	NM_014467.2	deleterious(0)		5/11		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF93,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		rs763276086	.												T	3	4	31	100664927	100664927	G	T	1	0	0	0	0	1	0	0	0	15526	1029	36	2		2	SRPX2	23	100664927	Missense_Mutation	SNP	G	C3L-02345_TP	257849	100664927	55375968	262	9346											
SYTL4	0	.	GRCh38	chrX	100689856	100689856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatataagggcacctacCatatccacattgaggcctgg	14	9	8	10	0	0	1	0	1	0	0	1	1	1	1	4	3	1	1	4	3	6	6	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.912G>T	p.Met304Ile	p.M304I	ENST00000372989	11/19	118	92	26	146	146	0	strelka-varscan-mutect	SYTL4,missense_variant,p.Met304Ile,ENST00000372981,;SYTL4,missense_variant,p.Met304Ile,ENST00000372989,NM_080737.2;SYTL4,missense_variant,p.Met304Ile,ENST00000276141,NM_001174068.1;SYTL4,missense_variant,p.Met304Ile,ENST00000263033,NM_001129896.2;	A	ENST00000372989	Transcript	missense_variant,splice_region_variant	1244/3885	912/2016	304/671	M/I	atG/atT		1		-1	SYTL4	HGNC	HGNC:15588	protein_coding	YES	CCDS14472.1	ENSP00000362080	Q96C24	A0A024RCF8	UPI00001AE9F2	NM_080737.2	tolerated(0.39)		11/19		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	31	100689856	100689856	C	A	1	0	0	0	0	1	0	0	0	15879	608	21	2		2	SYTL4	23	100689856	Missense_Mutation	SNP	C	C3L-02345_TP	24929	100689856	55351039	263	9347											
ARL13A	0	.	GRCh38	chrX	100985896	100985896	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtccgataaaagagtGgcagggaaacccatcttaat	13	9	10	9	1	1	1	0	0	1	1	2	3	2	2	2	2	2	2	2	2	4	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.360G>T	p.=	p.V120V	ENST00000450049	4/8	92	66	26	134	134	0	strelka-varscan-mutect	ARL13A,synonymous_variant,p.=,ENST00000450049,NM_001162491.1;ARL13A,upstream_gene_variant,,ENST00000372953,;ARL13A,synonymous_variant,p.=,ENST00000450457,;ARL13A,upstream_gene_variant,,ENST00000494863,;	T	ENST00000450049	Transcript	synonymous_variant	473/1102	360/771	120/256	V	gtG/gtT		1		1	ARL13A	HGNC	HGNC:31709	protein_coding	YES	CCDS55463.1	ENSP00000398637	Q5H913		UPI0001747A4A	NM_001162491.1			4/8		Gene3D:3.40.50.300,Pfam_domain:PF00025,PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF111,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	31	100985896	100985896	G	T	1	0	0	0	0	0	0	0	1	1065	1335	47	2		2	ARL13A	23	100985896	Silent	SNP	G	C3L-02345_TP	296040	100985896	55054999	264	9348											
COL4A6	0	.	GRCh38	chrX	108187101	108187101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctatgactcacccttaGatccgggaaggccttgttgt	8	13	10	10	1	2	2	1	1	1	1	3	4	3	3	3	2	0	1	3	2	3	5	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1946C>A	p.Ser649Tyr	p.S649Y	ENST00000394872	23/46	31	23	8	33	33	0	strelka-varscan-mutect	COL4A6,missense_variant,p.Ser649Tyr,ENST00000394872,NM_001287758.1;COL4A6,missense_variant,p.Ser649Tyr,ENST00000334504,NM_033641.3;COL4A6,missense_variant,p.Ser649Tyr,ENST00000621266,NM_001287759.1;COL4A6,missense_variant,p.Ser650Tyr,ENST00000372216,NM_001847.3;COL4A6,missense_variant,p.Ser649Tyr,ENST00000538570,NM_001287760.1;COL4A6,missense_variant,p.Ser649Tyr,ENST00000545689,;	T	ENST00000394872	Transcript	missense_variant	2180/6750	1946/5124	649/1707	S/Y	tCt/tAt		1		-1	COL4A6	HGNC	HGNC:2208	protein_coding	YES	CCDS76010.1	ENSP00000378340		A8MXH5	UPI000387C996	NM_001287758.1	tolerated(0.26)		23/46		Pfam_domain:PF01391,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	31	108187101	108187101	G	T	1	0	0	0	0	1	0	0	0	3484	956	33	2		2	COL4A6	23	108187101	Missense_Mutation	SNP	G	C3L-02345_TP	7201205	108187101	47853794	265	9349											
TEX13C	0	.	GRCh38	chrX	125321845	125321845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagatccagtgatgcccCagaacatgatccccctggag	13	6	10	12	0	0	5	0	2	0	3	2	6	2	6	5	1	2	0	5	1	2	0	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1726C>A	p.Gln576Lys	p.Q576K	ENST00000632600	1/1	434	347	87	517	517	0	strelka-varscan-mutect	TEX13C,missense_variant,p.Gln576Lys,ENST00000632600,NM_001195272.1;	A	ENST00000632600	Transcript	missense_variant	1726/5095	1726/2982	576/993	Q/K	Cag/Aag		1		1	TEX13C	HGNC	HGNC:52277	protein_coding	YES		ENSP00000488022	A0A0J9YWL9		UPI000016014C	NM_001195272.1	tolerated(0.14)		1/1																			MODERATE	1	SNV				1										PASS		.	.												A	3	1	31	125321845	125321845	C	A	1	0	0	0	0	1	0	0	0	16199	595	21	2		2	TEX13C	23	125321845	Missense_Mutation	SNP	C	C3L-02345_TP	17134744	125321845	30719050	266	9350											
DCAF12L1	0	.	GRCh38	chrX	126552476	126552476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcgagcgatacgtcgccgGccgcctctgcctcttgagta	6	9	11	15	6	2	1	0	1	2	0	4	3	2	1	4	1	3	1	4	1	2	3	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.133C>A	p.Pro45Thr	p.P45T	ENST00000371126	1/2	234	185	49	230	230	0	strelka-varscan-mutect	DCAF12L1,missense_variant,p.Pro45Thr,ENST00000371126,NM_178470.4;	T	ENST00000371126	Transcript	missense_variant	376/3382	133/1392	45/463	P/T	Ccg/Acg		1		-1	DCAF12L1	HGNC	HGNC:29395	protein_coding	YES	CCDS14610.1	ENSP00000360167	Q5VU92		UPI0000160112	NM_178470.4	tolerated(0.21)		1/2		hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	126552476	126552476	G	T	1	0	0	0	0	1	0	0	0	4065	1203	42	2		2	DCAF12L1	23	126552476	Missense_Mutation	SNP	G	C3L-02345_TP	1230631	126552476	29488419	267	9351											
AIFM1	0	.	GRCh38	chrX	130136695	130136695	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgccactgctgactccaacgGattgcacaatagcattgggc	10	9	10	12	1	0	1	0	1	0	0	1	2	1	2	2	2	5	3	2	2	3	3	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1112C>G	p.Ser371Cys	p.S371C	ENST00000287295	11/16	442	358	84	445	444	1	strelka-varscan-mutect	AIFM1,missense_variant,p.Ser371Cys,ENST00000287295,NM_004208.3;AIFM1,missense_variant,p.Ser367Cys,ENST00000319908,NM_145812.2;AIFM1,missense_variant,p.Ser32Cys,ENST00000460436,NM_001130846.2;AIFM1,missense_variant,p.Ser84Cys,ENST00000346424,NM_145813.2;AIFM1,3_prime_UTR_variant,,ENST00000535724,NM_001130847.3;AIFM1,3_prime_UTR_variant,,ENST00000416073,;AIFM1,3_prime_UTR_variant,,ENST00000527892,;AIFM1,non_coding_transcript_exon_variant,,ENST00000533719,;	C	ENST00000287295	Transcript	missense_variant	1343/2260	1112/1842	371/613	S/C	tCc/tGc		1		-1	AIFM1	HGNC	HGNC:8768	protein_coding	YES	CCDS14618.1	ENSP00000287295	O95831		UPI00001313DB	NM_004208.3	deleterious(0.03)		11/16		Gene3D:3.50.50.60,Pfam_domain:PF07992,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF150,Superfamily_domains:SSF51905																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	31	130136695	130136695	G	C	1	0	0	0	0	1	0	0	0	503	1174	41	4		4	AIFM1	23	130136695	Missense_Mutation	SNP	G	C3L-02345_TP	3584219	130136695	25904200	268	9352											
SAGE1	0	.	GRCh38	chrX	135909673	135909673	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caaaatgtccatgaagagagGatggaaaataaccaaccaca	20	5	8	8	0	0	2	0	1	0	1	1	5	1	4	3	2	2	0	3	2	7	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1617G>C	p.Arg539Ser	p.R539S	ENST00000324447	14/20	82	68	14	85	85	0	strelka-varscan-mutect	SAGE1,missense_variant,p.Arg539Ser,ENST00000324447,;SAGE1,missense_variant,p.Arg539Ser,ENST00000370709,NM_018666.2;SAGE1,missense_variant,p.Arg163Ser,ENST00000537770,;	C	ENST00000324447	Transcript	missense_variant	1691/2952	1617/2715	539/904	R/S	agG/agC		1		1	SAGE1	HGNC	HGNC:30369	protein_coding	YES	CCDS14652.1	ENSP00000323191	Q9NXZ1		UPI00001413AB		deleterious(0)		14/20		hmmpanther:PTHR12957:SF25,hmmpanther:PTHR12957																	MODERATE	1	SNV	1			1										PASS		rs1452292692	.												C	3	2	31	135909673	135909673	G	C	1	0	0	0	0	1	0	0	0	14068	1165	41	4		4	SAGE1	23	135909673	Missense_Mutation	SNP	G	C3L-02345_TP	5772978	135909673	20131222	269	9353											
VGLL1	0	.	GRCh38	chrX	136536125	136536125	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttttcacctacttccaaggGgacatcagcagcgtagtgga	10	10	10	11	1	2	0	2	0	0	0	3	2	3	2	2	3	3	2	2	3	3	5	rs867662759		C3L-02345_TP	C3L-02345_NB	G	G																c.105G>T	p.=	p.G35G	ENST00000370634	2/5	302	238	64	336	336	0	strelka-varscan-mutect	VGLL1,synonymous_variant,p.=,ENST00000370634,NM_016267.3;VGLL1,upstream_gene_variant,,ENST00000440515,;VGLL1,upstream_gene_variant,,ENST00000456412,;	T	ENST00000370634	Transcript	synonymous_variant	275/1215	105/777	35/258	G	ggG/ggT	rs867662759	1		1	VGLL1	HGNC	HGNC:20985	protein_coding	YES	CCDS14658.1	ENSP00000359668	Q99990		UPI0000071D9A	NM_016267.3			2/5		Pfam_domain:PF07545,hmmpanther:PTHR15950,hmmpanther:PTHR15950:SF20																	LOW	1	SNV	1			1										PASS		rs867662759	.												T	2	4	31	136536125	136536125	G	T	1	0	0	0	0	0	0	0	1	17704	1219	43	2		2	VGLL1	23	136536125	Silent	SNP	G	C3L-02345_TP	626452	136536125	19504770	270	9354											
SPANXN1	0	.	GRCh38	chrX	145255698	145255698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaccaaacagggacttaGcccccgaaccgagtttgaaa	15	5	9	12	2	0	2	0	1	0	1	0	5	0	3	4	1	3	1	4	1	4	2	rs782409226		C3L-02345_TP	C3L-02345_NB	G	G																c.103G>T	p.Ala35Ser	p.A35S	ENST00000370493	2/2	266	201	65	286	286	0	strelka-varscan-mutect	SPANXN1,missense_variant,p.Ala35Ser,ENST00000370493,NM_001009614.2;	T	ENST00000370493	Transcript	missense_variant	862/1276	103/219	35/72	A/S	Gcc/Tcc	rs782409226	1		1	SPANXN1	HGNC	HGNC:33174	protein_coding	YES	CCDS35421.1	ENSP00000359524	Q5VSR9		UPI0000458AF7	NM_001009614.2	tolerated(0.21)		2/2		Pfam_domain:PF07458,hmmpanther:PTHR23425,hmmpanther:PTHR23425:SF7																	MODERATE	1	SNV	1			1										PASS		rs782409226	.												T	3	4	31	145255698	145255698	G	T	1	0	0	0	0	1	0	0	0	15321	971	34	2		2	SPANXN1	23	145255698	Missense_Mutation	SNP	G	C3L-02345_TP	8719573	145255698	10785197	271	9355											
AFF2	0	.	GRCh38	chrX	148955661	148955661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggcttaacaaagtgacatCccagaacaagtcttttattt	14	13	6	8	0	1	2	0	1	1	1	2	2	2	2	1	1	2	1	1	1	5	4	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.1616C>T	p.Ser539Phe	p.S539F	ENST00000370460	11/21	137	113	24	157	157	0	strelka-varscan-mutect	AFF2,missense_variant,p.Ser539Phe,ENST00000370460,NM_001169123.1,NM_002025.3;AFF2,missense_variant,p.Ser180Phe,ENST00000286437,NM_001170628.1;AFF2,missense_variant,p.Ser506Phe,ENST00000342251,NM_001169122.1;AFF2,missense_variant,p.Ser504Phe,ENST00000370457,NM_001169124.1,NM_001169125.1;	T	ENST00000370460	Transcript	missense_variant	2095/13746	1616/3936	539/1311	S/F	tCc/tTc		1		1	AFF2	HGNC	HGNC:3776	protein_coding	YES	CCDS14684.1	ENSP00000359489	P51816		UPI000049E130	NM_001169123.1,NM_002025.3	deleterious(0)		11/21		hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF18,Pfam_domain:PF05110																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	31	148955661	148955661	C	T	1	0	0	0	0	1	0	0	0	434	855	30	3		3	AFF2	23	148955661	Missense_Mutation	SNP	C	C3L-02345_TP	3699963	148955661	7085234	272	9356											
AFF2	0	.	GRCh38	chrX	148955752	148955752	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccaaccaatggaagtccaGatgaaagtgaagacgaatgc	17	6	10	8	1	0	4	0	2	0	2	2	6	2	5	3	1	2	0	3	1	6	0	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1707G>C	p.Gln569His	p.Q569H	ENST00000370460	11/21	278	222	56	291	291	0	strelka-varscan-mutect	AFF2,missense_variant,p.Gln569His,ENST00000370460,NM_001169123.1,NM_002025.3;AFF2,missense_variant,p.Gln210His,ENST00000286437,NM_001170628.1;AFF2,missense_variant,p.Gln536His,ENST00000342251,NM_001169122.1;AFF2,missense_variant,p.Gln534His,ENST00000370457,NM_001169124.1,NM_001169125.1;	C	ENST00000370460	Transcript	missense_variant	2186/13746	1707/3936	569/1311	Q/H	caG/caC		1		1	AFF2	HGNC	HGNC:3776	protein_coding	YES	CCDS14684.1	ENSP00000359489	P51816		UPI000049E130	NM_001169123.1,NM_002025.3	tolerated(0.16)		11/21		hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF18,Pfam_domain:PF05110																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	31	148955752	148955752	G	C	1	0	0	0	0	1	0	0	0	434	933	33	4		4	AFF2	23	148955752	Missense_Mutation	SNP	G	C3L-02345_TP	91	148955752	7085143	273	9357											
MAGEA11	0	.	GRCh38	chrX	149716628	149716628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccggcactgatcctgcatGctatgagttcctgtggggtc	5	11	13	12	1	0	2	0	2	0	0	3	2	2	2	3	3	2	4	3	3	1	2	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.1142G>T	p.Cys381Phe	p.C381F	ENST00000355220	5/5	189	165	24	243	241	2	strelka-varscan-mutect	MAGEA11,missense_variant,p.Cys381Phe,ENST00000355220,NM_005366.4;MAGEA11,missense_variant,p.Cys352Phe,ENST00000333104,NM_001011544.1;MAGEA11,downstream_gene_variant,,ENST00000412632,;MAGEA11,non_coding_transcript_exon_variant,,ENST00000518694,;	T	ENST00000355220	Transcript	missense_variant	1244/1864	1142/1290	381/429	C/F	tGc/tTc		1		1	MAGEA11	HGNC	HGNC:6798	protein_coding	YES	CCDS48180.1	ENSP00000347358	P43364		UPI0000211BB0	NM_005366.4	deleterious(0.05)		5/5		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF71,Pfam_domain:PF01454,SMART_domains:SM01373																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	149716628	149716628	G	T	1	0	0	0	0	1	0	0	0	9081	1319	46	2		2	MAGEA11	23	149716628	Missense_Mutation	SNP	G	C3L-02345_TP	760876	149716628	6324267	274	9358											
PASD1	0	.	GRCh38	chrX	151671074	151671074	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagttgcatatgacatcAttagccaggaactggaactg	13	9	9	10	0	1	1	1	1	0	0	1	3	1	3	2	2	4	2	2	2	4	3	novel		C3L-02345_TP	C3L-02345_NB	A	A																c.1108A>T	p.Ile370Phe	p.I370F	ENST00000370357	12/16	141	113	28	207	207	0	strelka-varscan-mutect	PASD1,missense_variant,p.Ile370Phe,ENST00000370357,NM_173493.2;PASD1,non_coding_transcript_exon_variant,,ENST00000464219,;RP11-45D17.1,non_coding_transcript_exon_variant,,ENST00000413236,;	T	ENST00000370357	Transcript	missense_variant	1353/3163	1108/2322	370/773	I/F	Att/Ttt		1		1	PASD1	HGNC	HGNC:20686	protein_coding	YES	CCDS35431.1	ENSP00000359382	Q8IV76		UPI0000074686	NM_173493.2	tolerated(0.09)		12/16		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	151671074	151671074	A	T	1	0	0	0	0	1	0	0	0	11552	217	8	4		4	PASD1	23	151671074	Missense_Mutation	SNP	A	C3L-02345_TP	1954446	151671074	4369821	275	9359											
MAGEA6	0	.	GRCh38	chrX	152767011	152767011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctcctcaggggcacagtCgccctcttttgcgattatgg	5	14	10	12	2	3	0	1	0	2	0	5	1	3	0	2	3	1	1	2	3	1	4	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.640G>A	p.Asp214Asn	p.D214N	ENST00000616035	3/3	424	349	75	470	469	1	strelka-varscan-mutect	MAGEA6,missense_variant,p.Asp214Asn,ENST00000616035,NM_175868.1;MAGEA6,missense_variant,p.Asp214Asn,ENST00000329342,NM_005363.2;MAGEA6,missense_variant,p.Asp214Asn,ENST00000457643,;MAGEA6,downstream_gene_variant,,ENST00000412733,;	T	ENST00000616035	Transcript	missense_variant	898/1762	640/945	214/314	D/N	Gac/Aac		1		-1	MAGEA6	HGNC	HGNC:6804	protein_coding	YES	CCDS76050.1	ENSP00000480637	P43360		UPI000000D9B0	NM_175868.1	tolerated(1)		3/3		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF60,hmmpanther:PTHR11736,Pfam_domain:PF01454,SMART_domains:SM01373																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	31	152767011	152767011	C	T	1	0	0	0	0	1	0	0	0	9085	884	31	1		1	MAGEA6	23	152767011	Missense_Mutation	SNP	C	C3L-02345_TP	1095937	152767011	3273884	276	9360											
HAUS7	0	.	GRCh38	chrX	153456314	153456314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactctcctgcagctgcctgGcaagctccgccagcttctcc	5	9	8	19	1	2	0	0	0	2	0	5	0	3	0	5	1	5	5	5	1	1	1	novel		C3L-02345_TP	C3L-02345_NB	G	G																c.686C>A	p.Ala229Asp	p.A229D	ENST00000370211	7/10	206	154	52	225	225	0	strelka-varscan-mutect	HAUS7,missense_variant,p.Ala229Asp,ENST00000370211,NM_017518.7;HAUS7,missense_variant,p.Ala13Asp,ENST00000435662,;TREX2,5_prime_UTR_variant,,ENST00000330912,;TREX2,5_prime_UTR_variant,,ENST00000338525,;TREX2,5_prime_UTR_variant,,ENST00000334497,;TREX2,5_prime_UTR_variant,,ENST00000370232,;HAUS7,non_coding_transcript_exon_variant,,ENST00000484394,;HAUS7,non_coding_transcript_exon_variant,,ENST00000491286,;HAUS7,non_coding_transcript_exon_variant,,ENST00000490165,;HAUS7,downstream_gene_variant,,ENST00000464993,;HAUS7,downstream_gene_variant,,ENST00000490453,;HAUS7,upstream_gene_variant,,ENST00000437046,;HAUS7,upstream_gene_variant,,ENST00000460898,;	T	ENST00000370211	Transcript	missense_variant	730/1363	686/1107	229/368	A/D	gCc/gAc		1		-1	HAUS7	HGNC	HGNC:32979	protein_coding	YES	CCDS35438.1	ENSP00000359230	Q99871		UPI00000731E0	NM_017518.7	deleterious(0.04)		7/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14352,hmmpanther:PTHR14352:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	31	153456314	153456314	G	T	1	0	0	0	0	1	0	0	0	6857	1203	42	2		2	HAUS7	23	153456314	Missense_Mutation	SNP	G	C3L-02345_TP	689303	153456314	2584581	277	9361											
SLC10A3	0	.	GRCh38	chrX	154488137	154488137	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggctgaagaggtagctcccCccgccgccaggcgacgagca	9	3	14	15	4	0	2	0	1	0	1	1	4	1	2	5	3	2	4	5	3	2	1	novel		C3L-02345_TP	C3L-02345_NB	C	C																c.804G>T	p.=	p.G268G	ENST00000263512	2/2	281	230	51	353	353	0	strelka-varscan-mutect	SLC10A3,synonymous_variant,p.=,ENST00000263512,NM_019848.4;SLC10A3,synonymous_variant,p.=,ENST00000393586,;SLC10A3,synonymous_variant,p.=,ENST00000393587,NM_001142392.2;SLC10A3,synonymous_variant,p.=,ENST00000369649,NM_001142391.2;UBL4A,upstream_gene_variant,,ENST00000369660,NM_014235.4;SLC10A3,downstream_gene_variant,,ENST00000453912,;UBL4A,upstream_gene_variant,,ENST00000369653,;UBL4A,upstream_gene_variant,,ENST00000630530,;UBL4A,upstream_gene_variant,,ENST00000477777,;UBL4A,upstream_gene_variant,,ENST00000421431,;UBL4A,upstream_gene_variant,,ENST00000417913,;UBL4A,upstream_gene_variant,,ENST00000481237,;	A	ENST00000263512	Transcript	synonymous_variant	1330/2161	804/1434	268/477	G	ggG/ggT		1		-1	SLC10A3	HGNC	HGNC:22979	protein_coding	YES	CCDS14755.1	ENSP00000263512	P09131		UPI0000131021	NM_019848.4			2/2		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF3,TIGRFAM_domain:TIGR00841,Pfam_domain:PF01758																	LOW		SNV	2			1										PASS		.	.												A	2	1	31	154488137	154488137	C	A	1	0	0	0	0	0	0	0	1	14640	610	22	2		2	SLC10A3	23	154488137	Silent	SNP	C	C3L-02345_TP	1031823	154488137	1552758	278	9362											
FAM110D	0	.	GRCh38	chr1	26161791	26161791	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagaaggagcgcttcttcaActactgcggcctggagcgcg	8	7	15	11	4	2	1	1	0	1	1	2	4	2	3	1	4	5	1	1	4	3	3	rs745461816		C3L-02348_TP	C3L-02348_NB	A	A																c.500A>C	p.Asn167Thr	p.N167T	ENST00000374268	2/2	118	101	17	136	136	0	strelka-varscan-mutect	FAM110D,missense_variant,p.Asn167Thr,ENST00000374268,NM_024869.2;RP11-96L14.8,downstream_gene_variant,,ENST00000634842,;RP11-96L14.8,downstream_gene_variant,,ENST00000635463,;	C	ENST00000374268	Transcript	missense_variant	687/2858	500/816	167/271	N/T	aAc/aCc	rs745461816	1		1	FAM110D	HGNC	HGNC:25860	protein_coding	YES	CCDS41285.1	ENSP00000363386	Q8TAY7		UPI000006DD1D	NM_024869.2	deleterious(0)		2/2		hmmpanther:PTHR14758,Pfam_domain:PF14160																	MODERATE	1	SNV	1			1										PASS		rs745461816	.												C	3	2	32	26161791	26161791	A	C	1	0	0	0	0	1	0	0	0	5263	43	2	5		5	FAM110D	1	26161791	Missense_Mutation	SNP	A	C3L-02348_TP		26161791	222794631	1	9363											
COL9A2	0	.	GRCh38	chr1	40303539	40303539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgactcacctccacgccCtgtctcccgggctgtcctgg	3	8	10	20	3	2	0	1	0	1	0	5	1	4	0	6	2	0	1	6	2	0	0	novel		C3L-02348_TP	C3L-02348_NB	C	C																c.1539G>C	p.Gln513His	p.Q513H	ENST00000372748	28/32	340	271	69	339	338	1	strelka-varscan-mutect	COL9A2,missense_variant,p.Gln513His,ENST00000372748,NM_001852.3;COL9A2,missense_variant,p.Arg117Thr,ENST00000427563,;COL9A2,non_coding_transcript_exon_variant,,ENST00000466267,;COL9A2,non_coding_transcript_exon_variant,,ENST00000482722,;COL9A2,downstream_gene_variant,,ENST00000488463,;	G	ENST00000372748	Transcript	missense_variant	1636/2862	1539/2070	513/689	Q/H	caG/caC		1		-1	COL9A2	HGNC	HGNC:2218	protein_coding	YES	CCDS450.1	ENSP00000361834	Q14055		UPI0000126D47	NM_001852.3	deleterious(0.03)		28/32		Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	32	40303539	40303539	C	G	1	0	0	0	0	1	0	0	0	3497	680	24	4		4	COL9A2	1	40303539	Missense_Mutation	SNP	C	C3L-02348_TP	14141748	40303539	208652883	2	9364											
HYI	0	.	GRCh38	chr1	43451527	43451527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctcggcctgggacctGtgccacctgcacatgccctg	4	8	10	19	1	0	0	0	0	0	0	2	1	1	1	7	2	3	1	7	2	0	0	novel		C3L-02348_TP	C3L-02348_NB	G	G																c.643C>A	p.Gln215Lys	p.Q215K	ENST00000372425	7/8	126	99	27	154	154	0	strelka-varscan-mutect	HYI,missense_variant,p.Gln240Lys,ENST00000583037,NM_001243526.1;HYI,missense_variant,p.Gln215Lys,ENST00000372425,NM_001190880.2;HYI,missense_variant,p.Gln215Lys,ENST00000372432,NM_031207.5;HYI,missense_variant,p.Gln240Lys,ENST00000372434,;HYI,missense_variant,p.Gln215Lys,ENST00000486909,;HYI,missense_variant,p.Gln176Lys,ENST00000372430,;HYI,missense_variant,p.Gln181Lys,ENST00000372433,;HYI,missense_variant,p.Gln124Lys,ENST00000470662,;HYI,missense_variant,p.Gln129Lys,ENST00000487366,;SZT2,3_prime_UTR_variant,,ENST00000562955,NM_015284.3;SZT2,downstream_gene_variant,,ENST00000634258,;MIR6735,downstream_gene_variant,,ENST00000615179,;SZT2-AS1,upstream_gene_variant,,ENST00000396885,;HYI-AS1,upstream_gene_variant,,ENST00000444386,;SZT2,non_coding_transcript_exon_variant,,ENST00000460536,;HYI,non_coding_transcript_exon_variant,,ENST00000372427,;HYI,non_coding_transcript_exon_variant,,ENST00000483618,;HYI,downstream_gene_variant,,ENST00000469587,;HYI,downstream_gene_variant,,ENST00000496142,;	T	ENST00000372425	Transcript	missense_variant	839/1265	643/834	215/277	Q/K	Cag/Aag		1		-1	HYI	HGNC	HGNC:26948	protein_coding	YES	CCDS53309.1	ENSP00000361502	Q5T013		UPI0000EE302B	NM_001190880.2	deleterious(0.04)		7/8		hmmpanther:PTHR12110,hmmpanther:PTHR12110:SF22,PIRSF_domain:PIRSF006241,Gene3D:3.20.20.150,Pfam_domain:PF01261,Superfamily_domains:SSF51658																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	32	43451527	43451527	G	T	1	0	0	0	0	1	0	0	0	7364	1386	48	2		2	HYI	1	43451527	Missense_Mutation	SNP	G	C3L-02348_TP	3147988	43451527	205504895	3	9365											
IGSF3	0	.	GRCh38	chr1	116607995	116607995	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacgcttgctctccttatcaAtgaattccccggtcacggtt	7	13	8	13	3	3	1	2	1	1	0	5	2	4	1	3	2	1	3	3	2	3	4	rs61786588		C3L-02348_TP	C3L-02348_NB	A	A																c.1169T>C	p.Ile390Thr	p.I390T	ENST00000369483	5/12	134	127	7	135	134	1	varscan-mutect	IGSF3,missense_variant,p.Ile390Thr,ENST00000369483,NM_001542.3;IGSF3,missense_variant,p.Ile390Thr,ENST00000369486,NM_001007237.2;IGSF3,missense_variant,p.Ile390Thr,ENST00000318837,;	G	ENST00000369483	Transcript	missense_variant	1937/7326	1169/3645	390/1214	I/T	aTt/aCt	rs61786588	1		-1	IGSF3	HGNC	HGNC:5950	protein_coding	YES	CCDS30814.1	ENSP00000358495	O75054		UPI0000140437	NM_001542.3	deleterious(0.01)		5/12		hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF21,SMART_domains:SM00409																	MODERATE	1	SNV	5			1										PASS		rs61786588	.												G	3	3	32	116607995	116607995	A	G	1	0	0	0	0	1	0	0	0	7509	101	4	5		5	IGSF3	1	116607995	Missense_Mutation	SNP	A	C3L-02348_TP	73156468	116607995	132348427	4	9366											
ZNF281	0	.	GRCh38	chr1	200409511	200409511	+	Frame_Shift_Del	DEL	C	C	-																															ggggcggccgaccccgccggCcgggtgaagctggtgaccgg																								novel		C3L-02348_TP	C3L-02348_NB	C	C																c.195delG	p.Pro66ArgfsTer33	p.P66Rfs*33	ENST00000294740	2/2	131	88	43	176	176	0	sindel-varindel-pindel	ZNF281,frameshift_variant,p.Pro66ArgfsTer33,ENST00000294740,NM_012482.4,NM_001281293.1;ZNF281,frameshift_variant,p.Pro66ArgfsTer33,ENST00000367353,;ZNF281,intron_variant,,ENST00000367352,NM_001281294.1;RP11-469A15.2,intron_variant,,ENST00000637430,;RP11-469A15.2,upstream_gene_variant,,ENST00000634596,;RP11-469A15.2,upstream_gene_variant,,ENST00000635220,;	-	ENST00000294740	Transcript	frameshift_variant	320/4891	195/2688	65/895	R/X	cgG/cg		1		-1	ZNF281	HGNC	HGNC:13075	protein_coding	YES	CCDS1402.1	ENSP00000294740	Q9Y2X9		UPI000013C345	NM_012482.4,NM_001281293.1			2/2																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	32	200409511	200409511	C	-	1	0	1	0	1	0	0	0	0	18394	726	26	0		0	ZNF281	1	200409511	Frame_Shift_Del	DEL	C	C3L-02348_TP	83801516	200409511	48546911	5	9367											
CNTNAP5	0	.	GRCh38	chr2	124865345	124865345	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcacctaaacaaggaagaaaCccatgtattcaccattgatg	16	9	6	10	0	2	2	2	1	0	1	2	3	2	3	3	1	2	1	3	1	6	4	novel		C3L-02348_TP	C3L-02348_NB	C	C																c.3254C>A	p.Thr1085Asn	p.T1085N	ENST00000431078	20/24	206	158	48	226	224	2	strelka-varscan-mutect	CNTNAP5,missense_variant,p.Thr1085Asn,ENST00000431078,NM_130773.3;	A	ENST00000431078	Transcript	missense_variant	3618/5284	3254/3921	1085/1306	T/N	aCc/aAc		1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3	tolerated(0.08)		20/24		PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF665,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	32	124865345	124865345	C	A	1	0	0	0	0	1	0	0	0	3432	507	18	2		2	CNTNAP5	2	124865345	Missense_Mutation	SNP	C	C3L-02348_TP		124865345	117328184	6	9368											
SLC4A10	0	.	GRCh38	chr2	161855005	161855005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaagatgtggaagatggagGagaaaggtggagcaagcctt	15	6	17	3	0	0	4	0	0	0	4	0	8	0	7	1	5	2	1	1	5	4	1	novel		C3L-02348_TP	C3L-02348_NB	G	G																c.452G>A	p.Gly151Glu	p.G151E	ENST00000446997	5/27	150	123	27	186	186	0	strelka-varscan-mutect	SLC4A10,missense_variant,p.Gly162Glu,ENST00000375514,NM_001178016.1;SLC4A10,missense_variant,p.Gly151Glu,ENST00000415876,NM_022058.3;SLC4A10,missense_variant,p.Gly151Glu,ENST00000446997,NM_001178015.1;SLC4A10,missense_variant,p.Gly151Glu,ENST00000272716,;SLC4A10,missense_variant,p.Gly151Glu,ENST00000421911,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000493021,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000461456,;SLC4A10,missense_variant,p.Gly151Glu,ENST00000446228,;	A	ENST00000446997	Transcript	missense_variant	545/5551	452/3357	151/1118	G/E	gGa/gAa		1		1	SLC4A10	HGNC	HGNC:13811	protein_coding	YES	CCDS54411.1	ENSP00000393066	Q6U841		UPI00001D4707	NM_001178015.1	deleterious(0)		5/27		hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,Gene3D:1hynR00,TIGRFAM_domain:TIGR00834,Pfam_domain:PF07565,Superfamily_domains:SSF55804,Prints_domain:PR01232																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	32	161855005	161855005	G	A	1	0	0	0	0	1	0	0	0	14928	1174	41	3		3	SLC4A10	2	161855005	Missense_Mutation	SNP	G	C3L-02348_TP	36989660	161855005	80338524	7	9369											
TTN	0	.	GRCh38	chr2	178770415	178770415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttctaaatcaacttactctCcacgtgcagtctggcactgg	9	13	7	12	1	4	0	1	0	3	0	5	0	4	0	1	2	3	2	1	2	4	3	novel		C3L-02348_TP	C3L-02348_NB	C	C																c.8377G>A	p.Glu2793Lys	p.E2793K	ENST00000589042	35/363	438	358	80	408	408	0	strelka-varscan-mutect	TTN,missense_variant,p.Glu2793Lys,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Glu2793Lys,ENST00000591111,;TTN,missense_variant,p.Glu2793Lys,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Glu2793Lys,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Glu2747Lys,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Glu2747Lys,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Glu2747Lys,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Glu2793Lys,ENST00000360870,NM_133379.4;TTN,upstream_gene_variant,,ENST00000634225,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,upstream_gene_variant,,ENST00000584485,;TTN-AS1,upstream_gene_variant,,ENST00000629094,;	T	ENST00000589042	Transcript	missense_variant	8602/109224	8377/107976	2793/35991	E/K	Gag/Aag		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			35/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,SMART_domains:SM00409																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	32	178770415	178770415	C	T	1	0	0	0	0	1	0	0	0	17245	869	30	3		3	TTN	2	178770415	Missense_Mutation	SNP	C	C3L-02348_TP	16915410	178770415	63423114	8	9370											
FGD5	0	.	GRCh38	chr3	14819220	14819220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggggcttgatgaggggcCccggtccatcccaaagtgct	7	7	15	12	1	0	2	0	2	0	0	2	2	2	2	4	5	1	2	4	5	1	1	novel		C3L-02348_TP	C3L-02348_NB	C	C																c.149C>A	p.Pro50His	p.P50H	ENST00000285046	1/20	108	85	23	105	105	0	strelka-varscan-mutect	FGD5,missense_variant,p.Pro50His,ENST00000285046,NM_152536.3;FGD5,5_prime_UTR_variant,,ENST00000543601,NM_001320276.1;FGD5,upstream_gene_variant,,ENST00000457774,;	A	ENST00000285046	Transcript	missense_variant	259/5720	149/4389	50/1462	P/H	cCc/cAc		1		1	FGD5	HGNC	HGNC:19117	protein_coding	YES	CCDS46767.1	ENSP00000285046	Q6ZNL6		UPI00002372AE	NM_152536.3	tolerated_low_confidence(0.66)		1/20																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	32	14819220	14819220	C	A	1	0	0	0	0	1	0	0	0	5700	623	22	2		2	FGD5	3	14819220	Missense_Mutation	SNP	C	C3L-02348_TP		14819220	183476339	9	9371											
CCDC50	0	.	GRCh38	chr3	191389556	191389556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacactcattttacaaaccaGcagagttccacacggcattt	13	11	5	12	1	1	1	1	0	0	1	2	1	2	1	2	1	4	3	2	1	3	5	novel		C3L-02348_TP	C3L-02348_NB	G	G																c.1383G>A	p.=	p.Q461Q	ENST00000392456	11/12	399	372	27	429	429	0	strelka-varscan-mutect	CCDC50,synonymous_variant,p.=,ENST00000392455,NM_174908.3;CCDC50,synonymous_variant,p.=,ENST00000392456,NM_178335.2;	A	ENST00000392456	Transcript	synonymous_variant	1973/2454	1383/1449	461/482	Q	caG/caA		1		1	CCDC50	HGNC	HGNC:18111	protein_coding	YES	CCDS33912.1	ENSP00000376250	Q8IVM0		UPI000018F5EF	NM_178335.2			11/12		hmmpanther:PTHR22115,hmmpanther:PTHR22115:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	32	191389556	191389556	G	A	1	0	0	0	0	0	0	0	1	2525	962	34	3		3	CCDC50	3	191389556	Silent	SNP	G	C3L-02348_TP	176570336	191389556	6906003	10	9372											
LAP3	0	.	GRCh38	chr4	17582358	17582358	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgaacaggaaaactggcAtgaaggcaaagaaaacatca	20	3	10	8	2	1	2	1	1	0	1	1	5	1	3	0	3	3	2	0	3	7	0	novel		C3L-02348_TP	C3L-02348_NB	A	A																c.344A>G	p.His115Arg	p.H115R	ENST00000226299	4/13	252	203	49	259	259	0	strelka-varscan-mutect	LAP3,missense_variant,p.His115Arg,ENST00000226299,;LAP3,missense_variant,p.His115Arg,ENST00000618908,NM_015907.2;LAP3,missense_variant,p.His84Arg,ENST00000606142,;LAP3,upstream_gene_variant,,ENST00000513105,;LAP3,upstream_gene_variant,,ENST00000503467,;LAP3,upstream_gene_variant,,ENST00000504614,;LAP3,upstream_gene_variant,,ENST00000507960,;LAP3,non_coding_transcript_exon_variant,,ENST00000512397,;LAP3,intron_variant,,ENST00000509583,;LAP3,downstream_gene_variant,,ENST00000508497,;LAP3,upstream_gene_variant,,ENST00000508014,;	G	ENST00000226299	Transcript	missense_variant	618/2213	344/1560	115/519	H/R	cAt/cGt		1		1	LAP3	HGNC	HGNC:18449	protein_coding	YES	CCDS3422.1	ENSP00000226299	P28838		UPI000014F97D		tolerated(0.07)		4/13		Gene3D:3.40.220.10,HAMAP:MF_00181,Pfam_domain:PF02789,hmmpanther:PTHR11963,hmmpanther:PTHR11963:SF19,Superfamily_domains:SSF52949																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	32	17582358	17582358	A	G	1	0	0	0	0	1	0	0	0	8533	217	8	5		5	LAP3	4	17582358	Missense_Mutation	SNP	A	C3L-02348_TP		17582358	172632197	11	9373											
RNF175	0	.	GRCh38	chr4	153748735	153748735	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcaagatcatttccacGtgcatggaatcgtggccccg	11	9	10	11	3	2	2	2	0	0	2	4	3	3	3	3	2	1	1	3	2	3	1	rs147318567		C3L-02348_TP	C3L-02348_NB	G	G																c.156C>T	p.=	p.H52H	ENST00000347063	3/9	162	133	29	169	169	0	strelka-varscan-mutect	RNF175,synonymous_variant,p.=,ENST00000347063,NM_173662.2;RNF175,intron_variant,,ENST00000508248,;RNF175,non_coding_transcript_exon_variant,,ENST00000506505,;RNF175,non_coding_transcript_exon_variant,,ENST00000508967,;RNF175,missense_variant,p.Thr66Met,ENST00000507512,;RNF175,synonymous_variant,p.=,ENST00000503694,;RNF175,non_coding_transcript_exon_variant,,ENST00000509321,;RNF175,non_coding_transcript_exon_variant,,ENST00000506358,;RNF175,intron_variant,,ENST00000513656,;	A	ENST00000347063	Transcript	synonymous_variant	529/1604	156/987	52/328	H	caC/caT	rs147318567,COSM3696488,COSM3696489	1		-1	RNF175	HGNC	HGNC:27735	protein_coding	YES	CCDS47149.1	ENSP00000340979	Q8N4F7		UPI0001AE7525	NM_173662.2			3/9		Transmembrane_helices:TMhelix,hmmpanther:PTHR13407:SF2,hmmpanther:PTHR13407											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs147318567	.												A	2	1	32	153748735	153748735	G	A	1	0	0	0	0	0	0	0	1	13640	1136	40	1		1	RNF175	4	153748735	Silent	SNP	G	C3L-02348_TP	136166377	153748735	36465820	12	9374											
PRR16	0	.	GRCh38	chr5	120686482	120686482	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtataacataaaaaacaggGaggtccacttacacagtgaa	18	7	9	7	0	0	1	0	1	0	0	1	2	1	2	1	3	3	1	1	3	7	4			C3L-02348_TP	C3L-02348_NB	G	G																c.688G>T	p.Glu230Ter	p.E230*	ENST00000407149	2/2	205	177	28	281	281	0	strelka-varscan-mutect	PRR16,stop_gained,p.Glu207Ter,ENST00000379551,NM_016644.2;PRR16,stop_gained,p.Glu230Ter,ENST00000407149,NM_001300783.1;PRR16,stop_gained,p.Glu160Ter,ENST00000505123,NM_001308087.1;PRR16,stop_gained,p.Glu177Ter,ENST00000446965,;PRR16,downstream_gene_variant,,ENST00000509923,;	T	ENST00000407149	Transcript	stop_gained	897/1747	688/915	230/304	E/*	Gag/Tag	COSM481789	1		1	PRR16	HGNC	HGNC:29654	protein_coding	YES	CCDS75290.1	ENSP00000385118	Q569H4		UPI00004F9C36	NM_001300783.1			2/2		Pfam_domain:PF15252,hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0											1						HIGH	1	SNV	1		1	1										PASS		rs1186244854	.												T	4	4	32	120686482	120686482	G	T	1	0	0	0	0	0	1	0	0	12725	1175	41	2		2	PRR16	5	120686482	Nonsense_Mutation	SNP	G	C3L-02348_TP		120686482	60851777	13	9375											
ZSCAN31	0	.	GRCh38	chr6	28326492	28326492	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgaaggctttcccacactCcttacattgatagggtttct	9	14	7	11	0	1	2	0	2	1	0	3	2	3	2	2	2	1	2	2	2	3	5	novel		C3L-02348_TP	C3L-02348_NB	C	C																c.895G>T	p.Glu299Ter	p.E299*	ENST00000414429	8/8	215	175	40	228	228	0	strelka-varscan-mutect	ZSCAN31,stop_gained,p.Glu299Ter,ENST00000414429,NM_001135215.1;ZSCAN31,stop_gained,p.Glu299Ter,ENST00000396838,NM_145909.2;ZSCAN31,stop_gained,p.Glu299Ter,ENST00000439158,NM_001135216.1;ZSCAN31,stop_gained,p.Glu140Ter,ENST00000611469,NM_001243242.1,NM_001243244.1;ZSCAN31,stop_gained,p.Glu299Ter,ENST00000344279,NM_030899.4,NM_001243241.1;ZSCAN31,stop_gained,p.Glu140Ter,ENST00000446474,NM_001243243.1;ZSCAN31,stop_gained,p.Glu140Ter,ENST00000435857,;ZSCAN31,downstream_gene_variant,,ENST00000453745,;ZSCAN31,downstream_gene_variant,,ENST00000446222,;ZSCAN31,downstream_gene_variant,,ENST00000434036,;ZSCAN31,downstream_gene_variant,,ENST00000439636,;ZSCAN31,downstream_gene_variant,,ENST00000447021,;ZSCAN31,downstream_gene_variant,,ENST00000439628,;ZSCAN31,downstream_gene_variant,,ENST00000426756,;ZSCAN31,downstream_gene_variant,,ENST00000426434,;ZSCAN31,downstream_gene_variant,,ENST00000414431,;ZSCAN31,downstream_gene_variant,,ENST00000444081,;ZSCAN31,non_coding_transcript_exon_variant,,ENST00000481934,;	A	ENST00000414429	Transcript	stop_gained	1799/3551	895/1221	299/406	E/*	Gag/Tag		1		-1	ZSCAN31	HGNC	HGNC:14097	protein_coding	YES	CCDS4649.1	ENSP00000390076	Q96LW9	A0A024RCL4	UPI000013C358	NM_001135215.1			8/8		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF48,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	2			1										PASS		rs971227763	.												A	4	1	32	28326492	28326492	C	A	1	0	0	0	0	0	1	0	0	18834	864	30	2		2	ZSCAN31	6	28326492	Nonsense_Mutation	SNP	C	C3L-02348_TP		28326492	142479487	14	9376											
EYS	0	.	GRCh38	chr6	65402549	65402549	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaatgactcacatgatgtTtgaatgctcttacaaagcaa	15	11	8	7	0	2	3	1	3	1	0	2	4	2	4	0	1	3	3	0	1	5	2	rs780396364		C3L-02348_TP	C3L-02348_NB	T	T																c.1113A>T	p.Gln371His	p.Q371H	ENST00000370621	7/44	155	129	26	224	224	0	strelka-varscan-mutect	EYS,missense_variant,p.Gln371His,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Gln371His,ENST00000370621,NM_001292009.1;EYS,missense_variant,p.Gln371His,ENST00000393380,NM_001142801.1;EYS,missense_variant,p.Gln371His,ENST00000342421,NM_198283.1;	A	ENST00000370621	Transcript	missense_variant	1640/10485	1113/9498	371/3165	Q/H	caA/caT	rs780396364	1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	tolerated(0.57)		7/44		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR24033																	MODERATE	1	SNV	1			1										PASS		rs780396364	.												A	3	1	32	65402549	65402549	T	A	1	0	0	0	0	1	0	0	0	5200	1838	64	4		4	EYS	6	65402549	Missense_Mutation	SNP	T	C3L-02348_TP	37076057	65402549	105403430	15	9377											
PEG10	0	.	GRCh38	chr7	94663544	94663544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccggccataagagtgcGtgtgtccccaacatgaccga	11	6	10	14	3	0	2	0	1	0	1	1	3	1	2	5	1	2	0	5	1	2	1	novel		C3L-02348_TP	C3L-02348_NB	G	G																c.216G>A	p.=	p.A72A	ENST00000488574	2/2	107	83	24	114	114	0	strelka-varscan-mutect	PEG10,synonymous_variant,p.=,ENST00000615790,NM_001184962.1;PEG10,synonymous_variant,p.=,ENST00000612941,;PEG10,synonymous_variant,p.=,ENST00000488574,NM_001172438.2;PEG10,synonymous_variant,p.=,ENST00000612748,;PEG10,5_prime_UTR_variant,,ENST00000482108,NM_015068.3,NM_001184961.1,NM_001172437.2,NM_001040152.1;PEG10,5_prime_UTR_variant,,ENST00000617526,;PEG10,5_prime_UTR_variant,,ENST00000613043,;PEG10,intron_variant,,ENST00000493935,;PEG10,upstream_gene_variant,,ENST00000465184,;	A	ENST00000488574	Transcript	synonymous_variant	433/2587	216/1206	72/401	A	gcG/gcA		1		1	PEG10	HGNC	HGNC:14005	protein_coding	YES	CCDS75636.1	ENSP00000418944		B4DSP0	UPI0000037665	NM_001172438.2			2/2		hmmpanther:PTHR15503:SF10,hmmpanther:PTHR15503																	LOW	1	SNV	2			1										PASS		rs1359839744	.												A	2	1	32	94663544	94663544	G	A	1	0	0	0	0	0	0	0	1	11807	1132	40	1		1	PEG10	7	94663544	Silent	SNP	G	C3L-02348_TP		94663544	64682429	16	9378											
EPHB4	0	.	GRCh38	chr7	100807369	100807369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacccccagcattaccaggGagctcgtgtaggtgggatcg	8	9	13	11	2	0	0	0	0	0	0	2	2	0	2	3	3	4	3	3	3	3	3	novel		C3L-02348_TP	C3L-02348_NB	G	G																c.2330C>A	p.Ser777Tyr	p.S777Y	ENST00000358173	13/17	120	110	10	141	141	0	strelka-varscan-mutect	EPHB4,missense_variant,p.Ser777Tyr,ENST00000358173,NM_004444.4;EPHB4,missense_variant,p.Ser777Tyr,ENST00000360620,;EPHB4,3_prime_UTR_variant,,ENST00000616502,;EPHB4,non_coding_transcript_exon_variant,,ENST00000487222,;EPHB4,non_coding_transcript_exon_variant,,ENST00000478459,;EPHB4,non_coding_transcript_exon_variant,,ENST00000492403,;EPHB4,non_coding_transcript_exon_variant,,ENST00000467515,;	T	ENST00000358173	Transcript	missense_variant	2799/4329	2330/2964	777/987	S/Y	tCc/tAc		1		-1	EPHB4	HGNC	HGNC:3395	protein_coding	YES	CCDS5706.1	ENSP00000350896	P54760	Q541P7	UPI0000000DBB	NM_004444.4	deleterious(0.01)		13/17		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF296,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	32	100807369	100807369	G	T	1	0	0	0	0	1	0	0	0	5024	1188	41	2		2	EPHB4	7	100807369	Missense_Mutation	SNP	G	C3L-02348_TP	6143825	100807369	58538604	17	9379											
RECQL4	0	.	GRCh38	chr8	144513216	144513216	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggggggggggggtgccaAcctggggctgcaggaagagg	6	5	24	6	0	0	1	0	0	0	1	0	2	0	2	2	10	3	2	2	10	2	0	novel		C3L-02348_TP	C3L-02348_NB	A	A																c.2463+2T>C		p.X821_splice	ENST00000617875		83	71	12	88	88	0	strelka-varscan-mutect	RECQL4,splice_donor_variant,,ENST00000621189,;RECQL4,splice_donor_variant,,ENST00000617875,NM_004260.3;RECQL4,intron_variant,,ENST00000534626,;LRRC14,upstream_gene_variant,,ENST00000292524,NM_014665.3;LRRC14,upstream_gene_variant,,ENST00000529022,NM_001272036.1;MFSD3,downstream_gene_variant,,ENST00000301327,NM_138431.2;RECQL4,downstream_gene_variant,,ENST00000532846,;RECQL4,upstream_gene_variant,,ENST00000531875,;LRRC14,upstream_gene_variant,,ENST00000527730,;RECQL4,downstream_gene_variant,,ENST00000524998,;CTD-2517M22.17,intron_variant,,ENST00000580385,;RECQL4,upstream_gene_variant,,ENST00000529424,;MFSD3,downstream_gene_variant,,ENST00000528047,;MFSD3,downstream_gene_variant,,ENST00000526749,;MFSD3,downstream_gene_variant,,ENST00000534427,;RECQL4,upstream_gene_variant,,ENST00000301323,;RECQL4,downstream_gene_variant,,ENST00000534538,;RECQL4,downstream_gene_variant,,ENST00000534270,;	G	ENST00000617875	Transcript	splice_donor_variant	-/3809	2463/3627	821/1208				1		-1	RECQL4	HGNC	HGNC:9949	protein_coding	YES	CCDS75804.1	ENSP00000482313		A0A087WZ30	UPI0000E5E124	NM_004260.3				14/20																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	32	144513216	144513216	A	G	1	0	0	0	0	0	0	1	0	13372	57	2	5		5	RECQL4	8	144513216	Splice_Site	SNP	A	C3L-02348_TP		144513216	625420	18	9380											
GNAQ	0	.	GRCh38	chr9	77922179	77922179	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttattgtgctcatacttGtatgggatcttgagtgtgtc	7	17	10	7	0	2	1	1	1	1	0	3	2	2	2	1	1	2	2	1	1	3	6	rs200106152		C3L-02348_TP	C3L-02348_NB	G	G																c.303C>A	p.Tyr101Ter	p.Y101*	ENST00000286548	2/7	83	76	7	98	97	1	varscan-mutect	GNAQ,stop_gained,p.Tyr101Ter,ENST00000286548,NM_002072.4;GNAQ,stop_gained,p.Tyr72Ter,ENST00000411677,;	T	ENST00000286548	Transcript	stop_gained	526/6539	303/1080	101/359	Y/*	taC/taA	rs200106152,COSM3218458	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4			2/7		Gene3D:1.10.400.10,Pfam_domain:PF00503,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF184,SMART_domains:SM00275,Superfamily_domains:SSF47895											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs200106152	.												T	4	4	32	77922179	77922179	G	T	1	0	0	0	0	0	1	0	0	6389	1372	48	2		2	GNAQ	9	77922179	Nonsense_Mutation	SNP	G	C3L-02348_TP		77922179	60472538	19	9381											
HMCN2	0	.	GRCh38	chr9	130299116	130299116	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacaaagctcagggaagccCctcctgactctgcccacgaa	11	5	9	16	1	2	1	1	1	1	0	3	3	3	2	4	1	3	2	4	1	3	0	novel		C3L-02348_TP	C3L-02348_NB	C	C																c.1101C>A	p.=	p.P367P	ENST00000624552	8/98	267	219	48	234	234	0	strelka-varscan-mutect	HMCN2,synonymous_variant,p.=,ENST00000624552,NM_001291815.1;	A	ENST00000624552	Transcript	synonymous_variant	1101/15610	1101/15180	367/5059	P	ccC/ccA		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1			8/98		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	32	130299116	130299116	C	A	1	0	0	0	0	0	0	0	1	7112	610	22	2		2	HMCN2	9	130299116	Silent	SNP	C	C3L-02348_TP	52376937	130299116	8095601	20	9382											
FAM149B1	0	.	GRCh38	chr10	73235199	73235199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcctctgcagaaacccCatggcgactctagtcgagct	8	10	9	14	2	3	1	0	0	3	1	5	3	3	1	3	1	3	2	3	1	2	1	novel		C3L-02348_TP	C3L-02348_NB	C	C																c.1483C>T	p.His495Tyr	p.H495Y	ENST00000242505	12/14	185	139	46	189	189	0	strelka-varscan-mutect	FAM149B1,missense_variant,p.His495Tyr,ENST00000242505,NM_173348.1;FAM149B1,missense_variant,p.His428Tyr,ENST00000372955,;FAM149B1,intron_variant,,ENST00000445951,;FAM149B1,non_coding_transcript_exon_variant,,ENST00000470798,;DNAJC9,intron_variant,,ENST00000469143,;FAM149B1,downstream_gene_variant,,ENST00000607940,;DNAJC9,downstream_gene_variant,,ENST00000453189,;FAM149B1,3_prime_UTR_variant,,ENST00000475829,;FAM149B1,non_coding_transcript_exon_variant,,ENST00000468462,;FAM149B1,non_coding_transcript_exon_variant,,ENST00000466261,;	T	ENST00000242505	Transcript	missense_variant	1657/5408	1483/1749	495/582	H/Y	Cat/Tat		1		1	FAM149B1	HGNC	HGNC:29162	protein_coding	YES	CCDS44435.1	ENSP00000242505	Q96BN6		UPI00001617A8	NM_173348.1	deleterious(0.01)		12/14		hmmpanther:PTHR31997,hmmpanther:PTHR31997:SF0																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	32	73235199	73235199	C	T	1	0	0	0	0	1	0	0	0	5305	594	21	3		3	FAM149B1	10	73235199	Missense_Mutation	SNP	C	C3L-02348_TP		73235199	60562223	21	9383											
FOXI2	0	.	GRCh38	chr10	127737521	127737521	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccccgggcggcctggcggGcgccgacctcgcctggctga	2	4	17	18	7	0	1	0	1	0	0	1	2	0	1	6	5	0	1	6	5	0	0	novel		C3L-02348_TP	C3L-02348_NB	G	G																c.248G>C	p.Gly83Ala	p.G83A	ENST00000388920	1/2	41	31	10	57	57	0	strelka-varscan-mutect	FOXI2,missense_variant,p.Gly83Ala,ENST00000388920,NM_207426.2;RP11-288A5.2,upstream_gene_variant,,ENST00000623953,;	C	ENST00000388920	Transcript	missense_variant	287/3217	248/957	83/318	G/A	gGc/gCc		1		1	FOXI2	HGNC	HGNC:32448	protein_coding	YES	CCDS7655.2	ENSP00000373572	Q6ZQN5		UPI0000253B9D	NM_207426.2	tolerated(0.13)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF192,hmmpanther:PTHR11829																	MODERATE	1	SNV	1			1										PASS		rs1177608982	.												C	3	2	32	127737521	127737521	G	C	1	0	0	0	0	1	0	0	0	5872	1203	42	4		4	FOXI2	10	127737521	Missense_Mutation	SNP	G	C3L-02348_TP	54502322	127737521	6059901	22	9384											
DEAF1	0	.	GRCh38	chr11	686892	686892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagggtcggcccgcgtagCgaatgcttcttttccagtcc	6	10	12	13	4	1	0	0	0	1	0	4	1	3	0	3	2	2	3	3	2	3	4			C3L-02348_TP	C3L-02348_NB	C	C																c.770G>A	p.Arg257His	p.R257H	ENST00000382409	5/12	384	361	23	420	420	0	strelka-varscan-mutect	DEAF1,missense_variant,p.Arg257His,ENST00000382409,NM_021008.3;DEAF1,upstream_gene_variant,,ENST00000530813,;DEAF1,downstream_gene_variant,,ENST00000525626,;DEAF1,downstream_gene_variant,,ENST00000528864,;DEAF1,downstream_gene_variant,,ENST00000524786,;DEAF1,downstream_gene_variant,,ENST00000529727,;DEAF1,missense_variant,p.Arg45His,ENST00000527170,;DEAF1,downstream_gene_variant,,ENST00000529717,;	T	ENST00000382409	Transcript	missense_variant	1255/2500	770/1698	257/565	R/H	cGc/cAc	COSM4676924	1		-1	DEAF1	HGNC	HGNC:14677	protein_coding	YES	CCDS31327.1	ENSP00000371846	O75398		UPI00001290E6	NM_021008.3	deleterious(0.01)		5/12		Gene3D:3.10.390.10,Pfam_domain:PF01342,PROSITE_profiles:PS50864,hmmpanther:PTHR10237,SMART_domains:SM00258,Superfamily_domains:SSF63763											1						MODERATE	1	SNV	1		1	1										PASS		rs1373112573	.												T	3	4	32	686892	686892	C	T	1	0	0	0	0	1	0	0	0	4183	768	27	1		1	DEAF1	11	686892	Missense_Mutation	SNP	C	C3L-02348_TP		686892	134399730	23	9385											
OVCH2	0	.	GRCh38	chr11	7700326	7700326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcgtggatccagggaaGcactttactaatgtctgtga	9	13	12	7	1	1	1	0	1	1	0	3	3	2	3	1	2	2	2	1	2	3	4	novel		C3L-02348_TP	C3L-02348_NB	G	G																c.871C>A	p.Leu291Ile	p.L291I	ENST00000533663	7/16	103	96	7	148	148	0	strelka-varscan-mutect	OVCH2,missense_variant,p.Leu291Ile,ENST00000533663,;OVCH2,missense_variant,p.Leu291Ile,ENST00000612000,NM_198185.4;RP11-35J10.5,downstream_gene_variant,,ENST00000527565,;RP11-35J10.4,upstream_gene_variant,,ENST00000527443,;RP11-35J10.6,upstream_gene_variant,,ENST00000612456,;RP11-35J10.7,upstream_gene_variant,,ENST00000611809,;OVCH2,upstream_gene_variant,,ENST00000534817,;	T	ENST00000533663	Transcript	missense_variant	898/1921	871/1698	291/565	L/I	Ctt/Att		1		-1	OVCH2	HGNC	HGNC:29970	protein_coding	YES	CCDS73251.1	ENSP00000484497		A0A087X1V8	UPI00024A9A3D		deleterious(0.01)		7/16		PROSITE_profiles:PS50240,hmmpanther:PTHR24251:SF16,hmmpanther:PTHR24251,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	32	7700326	7700326	G	T	1	0	0	0	0	1	0	0	0	11394	971	34	2		2	OVCH2	11	7700326	Missense_Mutation	SNP	G	C3L-02348_TP	7013434	7700326	127386296	24	9386											
RBM14	0	.	GRCh38	chr11	66616856	66616856	+	Frame_Shift_Del	DEL	G	G	-																															tcgtgcacatgcgcgagaacGcgggcgcgctgcgcgccatc																								novel		C3L-02348_TP	C3L-02348_NB	G	G																c.136delG	p.Ala46ArgfsTer66	p.A46Rfs*66	ENST00000310137	1/3	153	122	31	160	160	0	sindel-varindel-pindel	RBM14,frameshift_variant,p.Ala46ArgfsTer66,ENST00000310137,NM_006328.3;RBM14-RBM4,frameshift_variant,p.Ala46ArgfsTer66,ENST00000412278,NM_001198845.1;RBM14,frameshift_variant,p.Ala46ArgfsTer66,ENST00000393979,NM_001198836.1;RBM14,frameshift_variant,p.Ala46ArgfsTer66,ENST00000409372,;RBM14-RBM4,frameshift_variant,p.Ala46ArgfsTer66,ENST00000500635,NM_001198846.1;RBM14,frameshift_variant,p.Ala46ArgfsTer66,ENST00000443702,;RBM14,frameshift_variant,p.Ala46ArgfsTer66,ENST00000409738,NM_001198837.1;RNU4-39P,upstream_gene_variant,,ENST00000362455,;RBM14,non_coding_transcript_exon_variant,,ENST00000512283,;RBM14-RBM4,non_coding_transcript_exon_variant,,ENST00000511114,;RBM14,upstream_gene_variant,,ENST00000461478,;RBM14,upstream_gene_variant,,ENST00000496694,;RBM14,upstream_gene_variant,,ENST00000460762,;RBM14-RBM4,frameshift_variant,p.Ala46ArgfsTer66,ENST00000421355,;	-	ENST00000310137	Transcript	frameshift_variant	275/2828	136/2010	46/669	A/X	Gcg/cg		1		1	RBM14	HGNC	HGNC:14219	protein_coding	YES	CCDS8147.1	ENSP00000311747	Q96PK6	A0A0S2Z4Z0	UPI0000073D46	NM_006328.3			1/3		PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF413,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	32	66616856	66616856	G	-	1	0	1	0	1	0	0	0	0	13281	1087	38	0		0	RBM14	11	66616856	Frame_Shift_Del	DEL	G	C3L-02348_TP	58916530	66616856	68469766	25	9387											
ANO1	0	.	GRCh38	chr11	70149761	70149761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagatgcgactcaactaccGctgggacctcacgggctttg	9	8	11	13	3	2	1	2	0	0	1	2	3	2	2	2	2	3	2	2	2	2	2	novel		C3L-02348_TP	C3L-02348_NB	G	G																c.1310G>T	p.Arg437Leu	p.R437L	ENST00000355303	12/26	238	196	42	285	284	1	strelka-varscan-mutect	ANO1,missense_variant,p.Arg437Leu,ENST00000355303,NM_018043.5;ANO1,missense_variant,p.Arg172Leu,ENST00000531349,;ANO1,missense_variant,p.Arg321Leu,ENST00000530676,;ANO1,missense_variant,p.Arg409Leu,ENST00000316296,;ANO1,missense_variant,p.Arg14Leu,ENST00000531300,;RP11-805J14.3,downstream_gene_variant,,ENST00000530525,;	T	ENST00000355303	Transcript	missense_variant	1615/4790	1310/2961	437/986	R/L	cGc/cTc		1		1	ANO1	HGNC	HGNC:21625	protein_coding	YES	CCDS44663.1	ENSP00000347454	Q5XXA6		UPI000013CE03	NM_018043.5	tolerated(0.76)		12/26		Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF13																	MODERATE	1	SNV	1			1										PASS		rs1459928181	.												T	3	4	32	70149761	70149761	G	T	1	0	0	0	0	1	0	0	0	802	1087	38	1		1	ANO1	11	70149761	Missense_Mutation	SNP	G	C3L-02348_TP	3532905	70149761	64936861	26	9388											
CEP295	0	.	GRCh38	chr11	93698196	93698196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgggggacagtaagtctgGgctggtgagctcttcatcct	6	13	14	8	0	3	1	1	1	2	0	4	2	4	2	1	4	1	3	1	4	1	3	novel		C3L-02348_TP	C3L-02348_NB	G	G																c.3284G>T	p.Gly1095Val	p.G1095V	ENST00000325212	15/30	203	153	50	254	253	1	strelka-varscan-mutect	CEP295,missense_variant,p.Gly1095Val,ENST00000325212,NM_033395.1;CEP295,intron_variant,,ENST00000531700,;CEP295,upstream_gene_variant,,ENST00000530425,;CEP295,downstream_gene_variant,,ENST00000531877,;CEP295,downstream_gene_variant,,ENST00000531622,;	T	ENST00000325212	Transcript	missense_variant	3446/8057	3284/7806	1095/2601	G/V	gGg/gTg		1		1	CEP295	HGNC	HGNC:29366	protein_coding	YES	CCDS44708.1	ENSP00000316681	Q9C0D2		UPI0000251F0E	NM_033395.1	tolerated(0.18)		15/30		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF25,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	32	93698196	93698196	G	T	1	0	0	0	0	1	0	0	0	2970	1232	43	2		2	CEP295	11	93698196	Missense_Mutation	SNP	G	C3L-02348_TP	23548435	93698196	41388426	27	9389											
NCAPD3	0	.	GRCh38	chr11	134210312	134210312	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctttcccctttttctatgCctcccggggttagcctgaga	4	14	10	13	1	1	1	0	1	1	1	3	2	3	1	5	3	2	2	5	3	2	5	novel		C3L-02348_TP	C3L-02348_NB	C	C																c.525G>T	p.Arg175Ser	p.R175S	ENST00000534548	4/35	105	78	27	149	149	0	strelka-varscan-mutect	NCAPD3,missense_variant,p.Arg175Ser,ENST00000534548,NM_015261.2;NCAPD3,missense_variant,p.Arg175Ser,ENST00000534532,;NCAPD3,missense_variant,p.Arg175Ser,ENST00000525964,;NCAPD3,3_prime_UTR_variant,,ENST00000533155,;NCAPD3,upstream_gene_variant,,ENST00000528065,;	A	ENST00000534548	Transcript	missense_variant	590/5061	525/4497	175/1498	R/S	agG/agT		1		-1	NCAPD3	HGNC	HGNC:28952	protein_coding	YES	CCDS31723.1	ENSP00000433681	P42695		UPI00001C1EFE	NM_015261.2	tolerated(0.21)		4/35		Low_complexity_(Seg):seg,hmmpanther:PTHR14222:SF1,hmmpanther:PTHR14222,PIRSF_domain:PIRSF036508																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	32	134210312	134210312	C	A	1	0	0	0	0	1	0	0	0	10222	738	26	2		2	NCAPD3	11	134210312	Missense_Mutation	SNP	C	C3L-02348_TP	40512116	134210312	876310	28	9390											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3L-02348_TP	C3L-02348_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	231	175	56	383	383	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												A	3	1	32	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	C3L-02348_TP		25245351	108029958	29	9391											
KIAA1551	0	.	GRCh38	chr12	31981598	31981598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acccagattacagaccacctCcaaagctataccgttactca	14	8	4	15	1	1	2	1	0	0	2	2	2	2	2	5	0	4	2	5	0	5	4	novel		C3L-02348_TP	C3L-02348_NB	C	C																c.643C>T	p.Pro215Ser	p.P215S	ENST00000312561	4/6	401	331	70	390	389	1	strelka-varscan-mutect	KIAA1551,missense_variant,p.Pro215Ser,ENST00000312561,NM_018169.3;KIAA1551,missense_variant,p.Pro215Ser,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,intron_variant,,ENST00000541981,;	T	ENST00000312561	Transcript	missense_variant	1057/6230	643/5244	215/1747	P/S	Cca/Tca		1		1	KIAA1551	HGNC	HGNC:25559	protein_coding	YES	CCDS8725.2	ENSP00000310338	Q9HCM1		UPI0000577B2F	NM_018169.3	tolerated(0.07)		4/6		hmmpanther:PTHR21604																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	32	31981598	31981598	C	T	1	0	0	0	0	1	0	0	0	8122	855	30	3		3	KIAA1551	12	31981598	Missense_Mutation	SNP	C	C3L-02348_TP	6736247	31981598	101293711	30	9392											
KRT76	0	.	GRCh38	chr12	52768989	52768991	+	In_Frame_Del	DEL	ACT	ACT	-																															ccgccactgactccatagccActgctgctgctgctgctgct																								rs370657661		C3L-02348_TP	C3L-02348_NB	ACT	ACT																c.1639_1641delAGT	p.Ser547del	p.S547del	ENST00000332411	9/9	152	144	8	138	137	1	varindel-pindel	KRT76,inframe_deletion,p.Ser547del,ENST00000332411,NM_015848.4;	-	ENST00000332411	Transcript	inframe_deletion	1693-1695/2529	1639-1641/1917	547/638	S/-	AGT/-	rs370657661,COSM1362583	1		-1	KRT76	HGNC	HGNC:24430	protein_coding	YES	CCDS8838.1	ENSP00000330101	Q01546		UPI000019B3C1	NM_015848.4			9/9		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF199,Low_complexity_(Seg):seg											0,1						MODERATE	1	deletion	1		0,1	1										PASS		.	.												-	7	5	32	52768989	52768989	ACT	-	1	0	1	0	1	0	0	0	0	8371	156	6	0		0	KRT76	12	52768989	In_Frame_Del	DEL	ACT	C3L-02348_TP	20787391	52768989	80506320	31	9393											
DPY19L2	0	.	GRCh38	chr12	63570801	63570801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatgattcacaatgggatGaagtgtagacagcttgatgc	12	11	13	5	0	1	4	1	3	0	1	1	6	1	6	0	2	2	2	0	2	3	3			C3L-02348_TP	C3L-02348_NB	G	G																c.1957C>T	p.His653Tyr	p.H653Y	ENST00000324472	20/22	229	192	37	243	243	0	strelka-varscan-mutect	DPY19L2,missense_variant,p.His653Tyr,ENST00000324472,NM_173812.4;DPY19L2,3_prime_UTR_variant,,ENST00000439061,;DPY19L2,non_coding_transcript_exon_variant,,ENST00000413230,;DPY19L2,upstream_gene_variant,,ENST00000541911,;	A	ENST00000324472	Transcript	missense_variant	2141/4060	1957/2277	653/758	H/Y	Cat/Tat	COSM4474990	1		-1	DPY19L2	HGNC	HGNC:19414	protein_coding	YES	CCDS31851.1	ENSP00000315988	Q6NUT2		UPI000006EC0C	NM_173812.4	deleterious(0)		20/22		Pfam_domain:PF10034,hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF6											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	32	63570801	63570801	G	A	1	0	0	0	0	1	0	0	0	4556	1290	45	3		3	DPY19L2	12	63570801	Missense_Mutation	SNP	G	C3L-02348_TP	10801812	63570801	69704508	32	9394											
DYRK2	0	.	GRCh38	chr12	67657462	67657462	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaatatatttcttgggTctaaatgctaagaagcgcca	13	12	8	8	1	2	2	0	1	2	1	2	2	2	2	2	1	2	1	2	1	7	6	rs537543305		C3L-02348_TP	C3L-02348_NB	T	T																c.555T>A	p.=	p.G185G	ENST00000344096	3/3	187	153	34	204	204	0	strelka-varscan-mutect	DYRK2,synonymous_variant,p.=,ENST00000344096,NM_006482.2;DYRK2,synonymous_variant,p.=,ENST00000393555,NM_003583.3;DYRK2,synonymous_variant,p.=,ENST00000543747,;DYRK2,synonymous_variant,p.=,ENST00000542503,;DYRK2,downstream_gene_variant,,ENST00000319833,;RP11-335O4.3,downstream_gene_variant,,ENST00000425371,;DYRK2,downstream_gene_variant,,ENST00000537632,;	A	ENST00000344096	Transcript	synonymous_variant	968/8912	555/1806	185/601	G	ggT/ggA	rs537543305	1		1	DYRK2	HGNC	HGNC:3093	protein_coding	YES	CCDS8978.1	ENSP00000342105	Q92630		UPI000006E92B	NM_006482.2			3/3		hmmpanther:PTHR24058:SF51,hmmpanther:PTHR24058																	LOW	1	SNV	1			1										PASS		rs537543305	.												A	2	1	32	67657462	67657462	T	A	1	0	0	0	0	0	0	0	1	4680	1654	58	4		4	DYRK2	12	67657462	Silent	SNP	T	C3L-02348_TP	4086661	67657462	65617847	33	9395											
LIN7A	0	.	GRCh38	chr12	80889253	80889253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaattttagtgccatacctCtcgaatagctgtacaaaact	15	12	5	9	1	1	0	0	0	1	0	2	1	1	0	2	0	5	2	2	0	9	5	novel		C3L-02348_TP	C3L-02348_NB	C	C																c.199G>A	p.Glu67Lys	p.E67K	ENST00000552864	2/6	309	241	68	332	332	0	strelka-varscan-mutect	LIN7A,missense_variant,p.Glu67Lys,ENST00000552864,NM_001324423.1,NM_004664.2;LIN7A,missense_variant,p.Glu61Lys,ENST00000549417,;LIN7A,missense_variant,p.Glu33Lys,ENST00000552093,;LIN7A,missense_variant,p.Glu67Lys,ENST00000261203,;	T	ENST00000552864	Transcript	missense_variant,splice_region_variant	402/6112	199/702	67/233	E/K	Gag/Aag		1		-1	LIN7A	HGNC	HGNC:17787	protein_coding	YES	CCDS9021.1	ENSP00000447488	O14910		UPI0000073ECD	NM_001324423.1,NM_004664.2	deleterious(0)		2/6		Pfam_domain:PF02828,PROSITE_profiles:PS51022,hmmpanther:PTHR14063,hmmpanther:PTHR14063:SF4,SMART_domains:SM00569,Superfamily_domains:SSF101288																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	32	80889253	80889253	C	T	1	0	0	0	0	1	0	0	0	8718	927	32	3		3	LIN7A	12	80889253	Missense_Mutation	SNP	C	C3L-02348_TP	13231791	80889253	52386056	34	9396											
CCDC59	0	.	GRCh38	chr12	82358228	82358228	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttcttacataccctcgCgaacgctccccacgaaggct	8	9	7	17	4	1	0	0	0	1	0	3	2	2	0	4	1	4	2	4	1	4	3	novel		C3L-02348_TP	C3L-02348_NB	C	C																c.149G>T	p.Arg50Leu	p.R50L	ENST00000256151	1/4	148	116	32	167	167	0	strelka-varscan-mutect	CCDC59,missense_variant,p.Arg50Leu,ENST00000256151,NM_014167.4;CCDC59,missense_variant,p.Arg50Leu,ENST00000552377,;METTL25,upstream_gene_variant,,ENST00000248306,NM_032230.2;METTL25,upstream_gene_variant,,ENST00000548200,;METTL25,upstream_gene_variant,,ENST00000550058,;CCDC59,non_coding_transcript_exon_variant,,ENST00000552412,;CCDC59,intron_variant,,ENST00000548126,;METTL25,upstream_gene_variant,,ENST00000547357,;METTL25,upstream_gene_variant,,ENST00000548569,;METTL25,upstream_gene_variant,,ENST00000547985,;CCDC59,non_coding_transcript_exon_variant,,ENST00000552606,;CCDC59,intron_variant,,ENST00000547758,;CCDC59,upstream_gene_variant,,ENST00000550589,;	A	ENST00000256151	Transcript	missense_variant	561/1983	149/726	50/241	R/L	cGc/cTc		1		-1	CCDC59	HGNC	HGNC:25005	protein_coding	YES	CCDS9023.1	ENSP00000256151	Q9P031		UPI0000034DFE	NM_014167.4	tolerated(0.08)		1/4		hmmpanther:PTHR15657:SF1,hmmpanther:PTHR15657,Prints_domain:PR01854																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	32	82358228	82358228	C	A	1	0	0	0	0	1	0	0	0	2531	782	27	1		1	CCDC59	12	82358228	Missense_Mutation	SNP	C	C3L-02348_TP	1468975	82358228	50917081	35	9397											
FAM124A	0	.	GRCh38	chr13	51252158	51252158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccccatcagcgaggggcGctggcagacggaggaccatg	9	3	16	13	3	1	1	1	0	0	1	1	4	1	3	3	5	2	2	3	5	0	0	rs374624217		C3L-02348_TP	C3L-02348_NB	G	G																c.899G>A	p.Arg300His	p.R300H	ENST00000280057	4/5	142	111	31	151	151	0	strelka-mutect	FAM124A,missense_variant,p.Arg264His,ENST00000322475,NM_001242312.1;FAM124A,missense_variant,p.Arg264His,ENST00000615498,;FAM124A,missense_variant,p.Arg300His,ENST00000280057,NM_145019.3;	A	ENST00000280057	Transcript	missense_variant	1030/2104	899/1749	300/582	R/H	cGc/cAc	rs374624217,COSM4048004	1		1	FAM124A	HGNC	HGNC:26413	protein_coding	YES	CCDS9427.1	ENSP00000280057	Q86V42		UPI0000140E33	NM_145019.3	deleterious(0)		4/5		Pfam_domain:PF15067,hmmpanther:PTHR14715,hmmpanther:PTHR14715:SF4											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs374624217	.												A	3	1	32	51252158	51252158	G	A	1	0	0	0	0	1	0	0	0	5279	1087	38	1		1	FAM124A	13	51252158	Missense_Mutation	SNP	G	C3L-02348_TP		51252158	63112170	36	9398											
PPP4R3A	0	.	GRCh38	chr14	91481706	91481706	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaactctgtatgtctgaTgaattttttgtttcagctca	9	18	7	7	0	4	3	2	3	2	0	4	3	4	3	0	0	2	3	0	0	3	5	novel		C3L-02348_TP	C3L-02348_NB	T	T																c.785A>C	p.His262Pro	p.H262P	ENST00000554684	4/15	197	165	32	209	209	0	strelka-varscan-mutect	PPP4R3A,missense_variant,p.His262Pro,ENST00000554684,NM_001284280.1;PPP4R3A,missense_variant,p.His262Pro,ENST00000554943,;PPP4R3A,missense_variant,p.His57Pro,ENST00000555470,;PPP4R3A,intron_variant,,ENST00000555462,NM_001284281.1;PPP4R3A,intron_variant,,ENST00000555029,;PPP4R3A,downstream_gene_variant,,ENST00000554511,;PPP4R3A,downstream_gene_variant,,ENST00000557018,;PPP4R3A,missense_variant,p.His262Pro,ENST00000554390,;PPP4R3A,missense_variant,p.His265Pro,ENST00000554308,;PPP4R3A,non_coding_transcript_exon_variant,,ENST00000554574,;	G	ENST00000554684	Transcript	missense_variant	1282/4108	785/2463	262/820	H/P	cAt/cCt		1		-1	PPP4R3A	HGNC	HGNC:20219	protein_coding	YES	CCDS9895.1	ENSP00000450864	Q6IN85	A0A024R6M2	UPI00001A95E2	NM_001284280.1	deleterious(0)		4/15		hmmpanther:PTHR23318:SF3,hmmpanther:PTHR23318,Pfam_domain:PF04802,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	32	91481706	91481706	T	G	1	0	0	0	0	1	0	0	0	12527	1464	51	5		5	PPP4R3A	14	91481706	Missense_Mutation	SNP	T	C3L-02348_TP		91481706	15562012	37	9399											
DDX24	0	.	GRCh38	chr14	94062547	94062547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcggtgttacttggaggagGggcagcattcctcttctgcc	5	13	13	10	1	2	0	0	0	2	0	4	2	3	2	2	5	3	3	2	5	1	5	novel		C3L-02348_TP	C3L-02348_NB	G	G																c.793C>T	p.Pro265Ser	p.P265S	ENST00000621632	3/9	167	143	24	157	157	0	strelka-varscan-mutect	DDX24,missense_variant,p.Pro265Ser,ENST00000621632,NM_020414.3;DDX24,missense_variant,p.Pro222Ser,ENST00000555054,;DDX24,missense_variant,p.Pro210Ser,ENST00000330836,;DDX24,missense_variant,p.Pro15Ser,ENST00000544005,;DDX24,upstream_gene_variant,,ENST00000622786,;DDX24,non_coding_transcript_exon_variant,,ENST00000555762,;	A	ENST00000621632	Transcript	missense_variant	925/5612	793/2580	265/859	P/S	Cct/Tct		1		-1	DDX24	HGNC	HGNC:13266	protein_coding	YES	CCDS9918.1	ENSP00000481495	Q9GZR7		UPI0000129082	NM_020414.3	tolerated(0.31)		3/9		PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF91,hmmpanther:PTHR24031,Pfam_domain:PF00270,SMART_domains:SM00487																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	32	94062547	94062547	G	A	1	0	0	0	0	1	0	0	0	4154	1232	43	3		3	DDX24	14	94062547	Missense_Mutation	SNP	G	C3L-02348_TP	2580841	94062547	12981171	38	9400											
EML1	0	.	GRCh38	chr14	99850917	99850917	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcttcactggagcagagAgtccagatgcaagaagacga	14	7	12	8	1	1	4	1	0	0	4	2	7	2	5	1	1	3	3	1	1	2	2	novel		C3L-02348_TP	C3L-02348_NB	A	A																c.132A>T	p.Arg44Ser	p.R44S	ENST00000334192	2/23	162	152	10	176	176	0	strelka-varscan-mutect	EML1,missense_variant,p.Arg44Ser,ENST00000262233,NM_004434.2;EML1,missense_variant,p.Arg44Ser,ENST00000334192,NM_001008707.1;EML1,missense_variant,p.Arg13Ser,ENST00000327921,;EML1,missense_variant,p.Arg31Ser,ENST00000554479,;EML1,missense_variant,p.Arg13Ser,ENST00000556714,;EML1,missense_variant,p.Arg13Ser,ENST00000556199,;EML1,missense_variant,p.Arg13Ser,ENST00000556835,;EML1,missense_variant,p.Arg31Ser,ENST00000555145,;EML1,missense_variant,p.Arg50Ser,ENST00000556947,;EML1,missense_variant,p.Arg25Ser,ENST00000553720,;EML1,non_coding_transcript_exon_variant,,ENST00000556758,;EML1,missense_variant,p.Arg44Ser,ENST00000555096,;	T	ENST00000334192	Transcript	missense_variant	266/4064	132/2505	44/834	R/S	agA/agT		1		1	EML1	HGNC	HGNC:3330	protein_coding	YES	CCDS32154.1	ENSP00000334314	O00423		UPI00004A074E	NM_001008707.1	deleterious(0)		2/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF22																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	32	99850917	99850917	A	T	1	0	0	0	0	1	0	0	0	4939	301	11	4		4	EML1	14	99850917	Missense_Mutation	SNP	A	C3L-02348_TP	5788370	99850917	7192801	39	9401											
AKAP13	0	.	GRCh38	chr15	85722055	85722055	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtgggcaacataaccAgtctgtaaactacttcaaag	13	12	8	8	0	2	0	1	0	1	0	2	0	2	0	1	1	4	3	1	1	6	6	novel		C3L-02348_TP	C3L-02348_NB	A	A																c.6329A>T	p.Gln2110Leu	p.Q2110L	ENST00000361243	24/37	250	201	49	308	308	0	strelka-varscan-mutect	AKAP13,missense_variant,p.Gln2106Leu,ENST00000394518,NM_007200.4;AKAP13,missense_variant,p.Gln2110Leu,ENST00000361243,NM_006738.5;AKAP13,missense_variant,p.Gln727Leu,ENST00000394510,NM_001270546.1;AKAP13,missense_variant,p.Gln722Leu,ENST00000560579,;AKAP13,missense_variant,p.Gln727Leu,ENST00000560676,;RP11-158M2.2,downstream_gene_variant,,ENST00000561417,;AKAP13,downstream_gene_variant,,ENST00000559820,;AKAP13,non_coding_transcript_exon_variant,,ENST00000558644,;AKAP13,non_coding_transcript_exon_variant,,ENST00000558009,;AKAP13,downstream_gene_variant,,ENST00000560482,;AKAP13,downstream_gene_variant,,ENST00000559278,;	T	ENST00000361243	Transcript	missense_variant	6410/9468	6329/8454	2110/2817	Q/L	cAg/cTg		1		1	AKAP13	HGNC	HGNC:371	protein_coding	YES	CCDS32320.1	ENSP00000354718	Q12802		UPI00001A8BEB	NM_006738.5	deleterious(0)		24/37		PROSITE_profiles:PS50010,hmmpanther:PTHR13944,hmmpanther:PTHR13944:SF12,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	32	85722055	85722055	A	T	1	0	0	0	0	1	0	0	0	532	188	7	4		4	AKAP13	15	85722055	Missense_Mutation	SNP	A	C3L-02348_TP		85722055	16269134	40	9402											
ISG20	0	.	GRCh38	chr15	88639402	88639402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggtggccatggactgCgagatggtggggctggggcc	5	7	22	7	1	0	1	0	0	0	1	0	4	0	2	2	9	1	1	2	9	0	0	rs773881244		C3L-02348_TP	C3L-02348_NB	C	C																c.36C>G	p.Cys12Trp	p.C12W	ENST00000306072	2/4	125	111	14	157	157	0	strelka-varscan-mutect	ISG20,missense_variant,p.Cys12Trp,ENST00000306072,NM_001303233.1,NM_002201.5;ISG20,missense_variant,p.Cys12Trp,ENST00000560741,NM_001303234.1;ISG20,missense_variant,p.Cys12Trp,ENST00000559876,NM_001303237.1;ISG20,missense_variant,p.Cys12Trp,ENST00000379224,;ISG20,downstream_gene_variant,,ENST00000558992,;ISG20,non_coding_transcript_exon_variant,,ENST00000560573,;ISG20,non_coding_transcript_exon_variant,,ENST00000558942,;	G	ENST00000306072	Transcript	missense_variant	394/1856	36/546	12/181	C/W	tgC/tgG	rs773881244	1		1	ISG20	HGNC	HGNC:6130	protein_coding	YES	CCDS10345.1	ENSP00000306565	Q96AZ6		UPI000006FE4D	NM_001303233.1,NM_002201.5	deleterious(0)		2/4		Gene3D:3.30.420.10,Pfam_domain:PF00929,hmmpanther:PTHR12801,hmmpanther:PTHR12801:SF74,SMART_domains:SM00479,Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1										PASS		rs773881244	.												G	3	3	32	88639402	88639402	C	G	1	0	0	0	0	1	0	0	0	7761	776	27	4		4	ISG20	15	88639402	Missense_Mutation	SNP	C	C3L-02348_TP	2917347	88639402	13351787	41	9403											
SLC9A3R2	0	.	GRCh38	chr16	2036384	2036384	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacctgcgaaagggacctCagggctatgggttcaacctg	9	7	13	12	1	2	0	2	0	0	0	2	2	2	1	4	3	2	2	4	3	3	2	novel		C3L-02348_TP	C3L-02348_NB	C	C																c.475C>T	p.Gln159Ter	p.Q159*	ENST00000424542	3/7	162	143	19	168	168	0	strelka-varscan-mutect	SLC9A3R2,stop_gained,p.Gln159Ter,ENST00000424542,NM_001130012.2;SLC9A3R2,stop_gained,p.Gln159Ter,ENST00000432365,NM_004785.5;SLC9A3R2,stop_gained,p.Gln48Ter,ENST00000566198,NM_001252073.1,NM_001252076.1;SLC9A3R2,stop_gained,p.Gln53Ter,ENST00000563587,;SLC9A3R2,stop_gained,p.Gln46Ter,ENST00000565855,NM_001252075.1;SLC9A3R2,stop_gained,p.Gln31Ter,ENST00000561844,;SLC9A3R2,stop_gained,p.Gln150Ter,ENST00000567504,;NTHL1,downstream_gene_variant,,ENST00000219066,NM_002528.5;NTHL1,downstream_gene_variant,,ENST00000566380,;SLC9A3R2,non_coding_transcript_exon_variant,,ENST00000565086,;NTHL1,downstream_gene_variant,,ENST00000562951,;SLC9A3R2,non_coding_transcript_exon_variant,,ENST00000564033,;NTHL1,downstream_gene_variant,,ENST00000561841,;NTHL1,downstream_gene_variant,,ENST00000568513,;NTHL1,downstream_gene_variant,,ENST00000565406,;NTHL1,downstream_gene_variant,,ENST00000567727,;NTHL1,downstream_gene_variant,,ENST00000561862,;	T	ENST00000424542	Transcript	stop_gained	613/2194	475/1014	159/337	Q/*	Cag/Tag		1		1	SLC9A3R2	HGNC	HGNC:11076	protein_coding	YES	CCDS45382.1	ENSP00000408005	Q15599		UPI0000070578	NM_001130012.2			3/7		PROSITE_profiles:PS50106,hmmpanther:PTHR14191:SF4,hmmpanther:PTHR14191,Gene3D:2.30.42.10,Pfam_domain:PF00595,PIRSF_domain:PIRSF037866,SMART_domains:SM00228,Superfamily_domains:SSF50156																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	32	2036384	2036384	C	T	1	0	0	0	0	0	1	0	0	14997	827	29	3		3	SLC9A3R2	16	2036384	Nonsense_Mutation	SNP	C	C3L-02348_TP		2036384	88301961	42	9404											
CREBBP	0	.	GRCh38	chr16	3850807	3850807	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctggccacccaggccctgCtgcacggggctgctggcgct	3	6	15	17	2	0	0	0	0	0	0	0	0	0	0	4	5	3	5	4	5	0	0	rs370300481		C3L-02348_TP	C3L-02348_NB	C	C																c.288G>C	p.Gln96His	p.Q96H	ENST00000262367	2/31	266	203	63	304	304	0	strelka-varscan-mutect	CREBBP,missense_variant,p.Gln96His,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.Gln96His,ENST00000382070,NM_001079846.1;CREBBP,upstream_gene_variant,,ENST00000636895,;	G	ENST00000262367	Transcript	missense_variant	1098/10803	288/7329	96/2442	Q/H	caG/caC	rs370300481	1		-1	CREBBP	HGNC	HGNC:2348	protein_coding	YES	CCDS10509.1	ENSP00000262367	Q92793		UPI0000000620	NM_004380.2	tolerated_low_confidence(0.11)		2/31		Low_complexity_(Seg):seg,hmmpanther:PTHR13808:SF5,hmmpanther:PTHR13808																	MODERATE	1	SNV	1			1										PASS		rs370300481	.												G	3	3	32	3850807	3850807	C	G	1	0	0	0	0	1	0	0	0	3661	796	28	4		4	CREBBP	16	3850807	Missense_Mutation	SNP	C	C3L-02348_TP	1814423	3850807	86487538	43	9405											
ACSM2A	0	.	GRCh38	chr16	20475771	20475771	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcctatggccagacagaaAcggtacctgttcccagggga	12	7	11	11	1	0	2	0	0	0	2	2	3	2	3	4	4	2	2	4	4	4	3	novel		C3L-02348_TP	C3L-02348_NB	A	A																c.1096A>G	p.Thr366Ala	p.T366A	ENST00000573854	8/14	139	113	26	123	121	2	strelka-varscan-mutect	ACSM2A,missense_variant,p.Thr366Ala,ENST00000573854,NM_001308172.1,NM_001010845.2;ACSM2A,missense_variant,p.Thr366Ala,ENST00000396104,;ACSM2A,missense_variant,p.Thr366Ala,ENST00000575690,;ACSM2A,missense_variant,p.Thr366Ala,ENST00000219054,;ACSM2A,missense_variant,p.Thr287Ala,ENST00000417235,NM_001308169.1;ACSM2A,splice_region_variant,,ENST00000575558,;ACSM2A,downstream_gene_variant,,ENST00000572921,;ACSM2A,splice_region_variant,,ENST00000570698,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000572843,;ACSM2A,upstream_gene_variant,,ENST00000576101,;ACSM2A,downstream_gene_variant,,ENST00000574692,;	G	ENST00000573854	Transcript	missense_variant,splice_region_variant	1210/2837	1096/1734	366/577	T/A	Acg/Gcg		1		1	ACSM2A	HGNC	HGNC:32017	protein_coding	YES	CCDS32401.1	ENSP00000459451	Q08AH3		UPI0000251E27	NM_001308172.1,NM_001010845.2	deleterious(0.02)		8/14		hmmpanther:PTHR24095:SF188,hmmpanther:PTHR24095,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	32	20475771	20475771	A	G	1	0	0	0	0	1	0	0	0	225	57	2	5		5	ACSM2A	16	20475771	Missense_Mutation	SNP	A	C3L-02348_TP	16624964	20475771	69862574	44	9406											
ZNF768	0	.	GRCh38	chr16	30524997	30524997	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggacgagttctggctataGcacttgccgcactcggtgca	8	9	13	11	3	1	0	0	0	1	0	2	2	1	1	1	3	3	5	1	3	2	4	novel		C3L-02348_TP	C3L-02348_NB	G	G																c.1143C>A	p.Cys381Ter	p.C381*	ENST00000380412	2/2	320	274	46	280	278	2	strelka-varscan-mutect	ZNF768,stop_gained,p.Cys381Ter,ENST00000380412,NM_024671.3;ZNF768,stop_gained,p.Cys350Ter,ENST00000562803,;ITGAL,downstream_gene_variant,,ENST00000356798,NM_002209.2;ITGAL,downstream_gene_variant,,ENST00000358164,NM_001114380.1;ITGAL,downstream_gene_variant,,ENST00000433423,;AC002310.14,upstream_gene_variant,,ENST00000624451,;AC002310.11,downstream_gene_variant,,ENST00000569360,;ITGAL,downstream_gene_variant,,ENST00000564632,;	T	ENST00000380412	Transcript	stop_gained	1319/2315	1143/1623	381/540	C/*	tgC/tgA		1		-1	ZNF768	HGNC	HGNC:26273	protein_coding	YES	CCDS10681.2	ENSP00000369777	Q9H5H4	A0A024QZC8	UPI00001FFEED	NM_024671.3			2/2		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF208,SMART_domains:SM00355																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	32	30524997	30524997	G	T	1	0	0	0	0	0	1	0	0	18724	963	34	2		2	ZNF768	16	30524997	Nonsense_Mutation	SNP	G	C3L-02348_TP	10049226	30524997	59813348	45	9407											
ACLY	0	.	GRCh38	chr17	41910221	41910221	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggagccgcctcacacataCctgactgtgggggacgaagg	9	6	14	12	2	1	1	1	1	0	0	1	4	1	3	3	4	2	0	3	4	2	1	novel		C3L-02348_TP	C3L-02348_NB	C	C																c.345+1G>A		p.X115_splice	ENST00000352035		131	121	10	127	127	0	strelka-varscan-mutect	ACLY,splice_donor_variant,,ENST00000352035,NM_001303274.1,NM_001096.2;ACLY,splice_donor_variant,,ENST00000353196,NM_001303275.1,NM_198830.1;ACLY,splice_donor_variant,,ENST00000590151,;ACLY,splice_donor_variant,,ENST00000393896,;ACLY,intron_variant,,ENST00000537919,;ACLY,intron_variant,,ENST00000590770,;ACLY,downstream_gene_variant,,ENST00000592970,;ACLY,splice_donor_variant,,ENST00000590735,;ACLY,upstream_gene_variant,,ENST00000588547,;	T	ENST00000352035	Transcript	splice_donor_variant	-/4339	345/3306	115/1101				1		-1	ACLY	HGNC	HGNC:115	protein_coding	YES	CCDS11412.1	ENSP00000253792	P53396	A0A024R1T9	UPI000013CDF3	NM_001303274.1,NM_001096.2				4/28																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	32	41910221	41910221	C	T	1	0	0	0	0	0	0	1	0	185	521	18	3		3	ACLY	17	41910221	Splice_Site	SNP	C	C3L-02348_TP		41910221	41347220	46	9408											
HRH4	0	.	GRCh38	chr18	24468822	24468822	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttgtacatccctcacacGctgttcgaatgggattttgg	7	14	9	11	2	1	0	1	0	0	0	3	2	2	1	2	2	1	3	2	2	2	5	rs758519592		C3L-02348_TP	C3L-02348_NB	G	G																c.228G>T	p.=	p.T76T	ENST00000256906	2/3	159	141	18	178	178	0	strelka-varscan-mutect	HRH4,synonymous_variant,p.=,ENST00000256906,NM_021624.3;HRH4,intron_variant,,ENST00000426880,NM_001143828.1;	T	ENST00000256906	Transcript	synonymous_variant	328/3668	228/1173	76/390	T	acG/acT	rs758519592,COSM4071584	1		1	HRH4	HGNC	HGNC:17383	protein_coding	YES	CCDS11887.1	ENSP00000256906	Q9H3N8		UPI0000039A92	NM_021624.3			2/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF290,Superfamily_domains:SSF81321											0,1						LOW	1	SNV	1		0,1	1										PASS		rs758519592	.												T	2	4	32	24468822	24468822	G	T	1	0	0	0	0	0	0	0	1	7253	1074	38	1		1	HRH4	18	24468822	Silent	SNP	G	C3L-02348_TP		24468822	55904463	47	9409											
RNF125	0	.	GRCh38	chr18	32065916	32065916	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccagttctgtccactttgCcgtttaatacccgatgagaa	9	14	7	11	2	1	1	0	1	1	1	3	3	3	1	4	0	2	2	4	0	3	6	novel		C3L-02348_TP	C3L-02348_NB	C	C																c.519C>T	p.=	p.C173C	ENST00000217740	5/6	125	102	23	167	167	0	strelka-varscan-mutect	RNF125,synonymous_variant,p.=,ENST00000217740,NM_017831.3;RNF125,non_coding_transcript_exon_variant,,ENST00000583384,;RP11-53I6.2,intron_variant,,ENST00000583184,;RNF125,3_prime_UTR_variant,,ENST00000580209,;RNF125,non_coding_transcript_exon_variant,,ENST00000580863,;RNF125,intron_variant,,ENST00000583814,;	T	ENST00000217740	Transcript	synonymous_variant	1011/6020	519/699	173/232	C	tgC/tgT		1		1	RNF125	HGNC	HGNC:21150	protein_coding	YES	CCDS11902.1	ENSP00000217740	Q96EQ8		UPI000013C731	NM_017831.3			5/6		hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF17,Pfam_domain:PF05605																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	32	32065916	32065916	C	T	1	0	0	0	0	0	0	0	1	13612	747	26	3		3	RNF125	18	32065916	Silent	SNP	C	C3L-02348_TP	7597094	32065916	48307369	48	9410											
KIAA1468	0	.	GRCh38	chr18	62287397	62287397	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttggtgaacaacttacaGattgtggattctaaaagact	13	12	9	7	0	1	3	0	1	1	2	1	4	1	4	1	2	3	0	1	2	5	5			C3L-02348_TP	C3L-02348_NB	G	G																c.3300G>A	p.=	p.Q1100Q	ENST00000398130	26/29	250	231	19	296	296	0	strelka-varscan-mutect	KIAA1468,synonymous_variant,p.=,ENST00000398130,NM_020854.3;KIAA1468,synonymous_variant,p.=,ENST00000256858,;KIAA1468,non_coding_transcript_exon_variant,,ENST00000587764,;KIAA1468,downstream_gene_variant,,ENST00000593217,;KIAA1468,downstream_gene_variant,,ENST00000587714,;KIAA1468,non_coding_transcript_exon_variant,,ENST00000587198,;	A	ENST00000398130	Transcript	synonymous_variant	3532/6178	3300/3651	1100/1216	Q	caG/caA	COSM1303804	1		1	KIAA1468	HGNC	HGNC:29289	protein_coding	YES	CCDS11979.2	ENSP00000381198	Q9P260		UPI0000DA5AF7	NM_020854.3			26/29		hmmpanther:PTHR32059,hmmpanther:PTHR32059:SF0,Superfamily_domains:SSF48371											1						LOW	1	SNV	1		1	1										PASS		rs1414082475	.												A	2	1	32	62287397	62287397	G	A	1	0	0	0	0	0	0	0	1	8117	933	33	3		3	KIAA1468	18	62287397	Silent	SNP	G	C3L-02348_TP	30221481	62287397	18085888	49	9411											
GPR108	0	.	GRCh38	chr19	6735645	6735645	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatccttggtgttgatgagGaacaggaccaggaaactgct	12	9	13	7	0	0	3	0	2	0	1	1	6	1	6	2	4	3	2	2	4	2	2	novel		C3L-02348_TP	C3L-02348_NB	G	G																c.351C>T	p.=	p.F117F	ENST00000264080	4/18	183	159	24	211	211	0	strelka-varscan-mutect	GPR108,synonymous_variant,p.=,ENST00000264080,NM_001080452.1;GPR108,synonymous_variant,p.=,ENST00000601716,;GPR108,5_prime_UTR_variant,,ENST00000430424,;GPR108,5_prime_UTR_variant,,ENST00000597298,;TRIP10,upstream_gene_variant,,ENST00000600428,;TRIP10,upstream_gene_variant,,ENST00000313244,NM_001288962.1;TRIP10,upstream_gene_variant,,ENST00000313285,NM_004240.3;TRIP10,upstream_gene_variant,,ENST00000596758,NM_001288963.1;GPR108,upstream_gene_variant,,ENST00000594034,;GPR108,upstream_gene_variant,,ENST00000598955,;GPR108,upstream_gene_variant,,ENST00000594500,;GPR108,downstream_gene_variant,,ENST00000621745,;GPR108,upstream_gene_variant,,ENST00000537722,;GPR108,upstream_gene_variant,,ENST00000598626,;TRIP10,upstream_gene_variant,,ENST00000596543,;GPR108,synonymous_variant,p.=,ENST00000597706,;GPR108,synonymous_variant,p.=,ENST00000595908,;GPR108,non_coding_transcript_exon_variant,,ENST00000595108,;GPR108,non_coding_transcript_exon_variant,,ENST00000601402,;GPR108,non_coding_transcript_exon_variant,,ENST00000595620,;GPR108,intron_variant,,ENST00000598052,;TRIP10,upstream_gene_variant,,ENST00000595305,;TRIP10,upstream_gene_variant,,ENST00000600677,;GPR108,upstream_gene_variant,,ENST00000600773,;GPR108,downstream_gene_variant,,ENST00000597043,;	A	ENST00000264080	Transcript	synonymous_variant	378/2057	351/1632	117/543	F	ttC/ttT		1		-1	GPR108	HGNC	HGNC:17829	protein_coding	YES	CCDS42479.1	ENSP00000264080	Q9NPR9		UPI00001D8222	NM_001080452.1			4/18		hmmpanther:PTHR21229,hmmpanther:PTHR21229:SF11																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	32	6735645	6735645	G	A	1	0	0	0	0	0	0	0	1	6526	1165	41	3		3	GPR108	19	6735645	Silent	SNP	G	C3L-02348_TP		6735645	51881971	50	9412											
SLC1A6	0	.	GRCh38	chr19	14968301	14968301	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttttttaggttggcacAcctgatcaggtccatgaagg	8	13	13	7	0	1	2	1	2	0	0	2	2	2	2	2	5	0	3	2	5	2	4	novel		C3L-02348_TP	C3L-02348_NB	A	A																c.548+2T>C		p.X183_splice	ENST00000221742		127	115	12	120	120	0	strelka-varscan-mutect	SLC1A6,splice_donor_variant,,ENST00000598504,NM_001272087.1;SLC1A6,splice_donor_variant,,ENST00000544886,NM_001272088.1;SLC1A6,splice_donor_variant,,ENST00000600144,;SLC1A6,splice_donor_variant,,ENST00000221742,NM_005071.2;SLC1A6,intron_variant,,ENST00000430939,;SLC1A6,downstream_gene_variant,,ENST00000597262,;SLC1A6,downstream_gene_variant,,ENST00000599636,;SLC1A6,downstream_gene_variant,,ENST00000601761,;SLC1A6,downstream_gene_variant,,ENST00000594383,;SLC1A6,downstream_gene_variant,,ENST00000595863,;SLC1A6,splice_donor_variant,,ENST00000596697,;	G	ENST00000221742	Transcript	splice_donor_variant	-/1719	548/1695	183/564				1		-1	SLC1A6	HGNC	HGNC:10944	protein_coding	YES	CCDS12321.1	ENSP00000221742	P48664		UPI0000129B1A	NM_005071.2				3/8																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	32	14968301	14968301	A	G	1	0	0	0	0	0	0	1	0	14702	173	6	5		5	SLC1A6	19	14968301	Splice_Site	SNP	A	C3L-02348_TP	8232656	14968301	43649315	51	9413											
TMEM221	0	.	GRCh38	chr19	17448325	17448325	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcctggcccagcccctcGgcgcgcagcccccgcagctc	4	4	11	22	4	0	0	0	0	0	0	3	0	1	0	6	2	4	4	6	2	0	0	novel		C3L-02348_TP	C3L-02348_NB	G	G																c.138C>A	p.=	p.A46A	ENST00000341130	1/3	47	34	13	13	13	0	varscan-mutect	TMEM221,synonymous_variant,p.=,ENST00000341130,NM_001190844.1;CTD-2521M24.10,intron_variant,,ENST00000594663,;CTD-2521M24.11,downstream_gene_variant,,ENST00000598950,;TMEM221,upstream_gene_variant,,ENST00000593461,;	T	ENST00000341130	Transcript	synonymous_variant	243/1930	138/876	46/291	A	gcC/gcA		1		-1	TMEM221	HGNC	HGNC:21943	protein_coding	YES	CCDS54230.1	ENSP00000342162	A6NGB7		UPI00002036E7	NM_001190844.1			1/3		Pfam_domain:PF15038,hmmpanther:PTHR36132,hmmpanther:PTHR36132:SF1																	LOW	1	SNV	2			1										PASS		rs954832303	.												T	2	4	32	17448325	17448325	G	T	1	0	0	0	0	0	0	0	1	16585	1103	39	1		1	TMEM221	19	17448325	Silent	SNP	G	C3L-02348_TP	2480024	17448325	41169291	52	9414											
LSR	0	.	GRCh38	chr19	35266950	35266957	+	Frame_Shift_Del	DEL	GTGGCCGT	GTGGCCGT	-																															ttctcgacctggcccccccaGtggccgtgtggagcggggta																								novel		C3L-02348_TP	C3L-02348_NB	GTGGCCGT	GTGGCCGT																c.1275_1282delCCGTGTGG	p.Arg426AlafsTer5	p.R426Afs*5	ENST00000621372	8/10	89	81	8	117	117	0	sindel-varindel-pindel	LSR,frameshift_variant,p.Arg406AlafsTer5,ENST00000602122,NM_001260489.1;LSR,frameshift_variant,p.Arg426AlafsTer5,ENST00000621372,NM_205834.3;LSR,frameshift_variant,p.Arg426AlafsTer5,ENST00000361790,;LSR,frameshift_variant,p.Arg407AlafsTer5,ENST00000354900,NM_015925.6;LSR,frameshift_variant,p.Arg358AlafsTer5,ENST00000360798,NM_205835.3;LSR,frameshift_variant,p.Arg378AlafsTer5,ENST00000605618,;LSR,frameshift_variant,p.Arg368AlafsTer5,ENST00000347609,;LSR,frameshift_variant,p.Arg270AlafsTer5,ENST00000427250,NM_001260490.1;USF2,upstream_gene_variant,,ENST00000222305,NM_003367.2;USF2,upstream_gene_variant,,ENST00000595068,;USF2,upstream_gene_variant,,ENST00000343550,NM_207291.1;USF2,upstream_gene_variant,,ENST00000594064,;USF2,upstream_gene_variant,,ENST00000599471,;USF2,upstream_gene_variant,,ENST00000379134,;USF2,upstream_gene_variant,,ENST00000596380,;LSR,downstream_gene_variant,,ENST00000601623,;USF2,upstream_gene_variant,,ENST00000598058,;USF2,upstream_gene_variant,,ENST00000599625,;LSR,downstream_gene_variant,,ENST00000599658,;AD000684.2,downstream_gene_variant,,ENST00000602262,;USF2,upstream_gene_variant,,ENST00000600341,;LSR,downstream_gene_variant,,ENST00000597933,;LSR,non_coding_transcript_exon_variant,,ENST00000597446,;USF2,upstream_gene_variant,,ENST00000607959,;USF2,upstream_gene_variant,,ENST00000602164,;USF2,upstream_gene_variant,,ENST00000593708,;USF2,upstream_gene_variant,,ENST00000597671,;	-	ENST00000621372	Transcript	frameshift_variant	1494-1501/2274	1271-1278/1950	424-426/649	SGR/X	aGTGGCCGT/a		1		1	LSR	HGNC	HGNC:29572	protein_coding	YES	CCDS12450.1	ENSP00000480821	Q86X29		UPI000003117A	NM_205834.3			8/10		hmmpanther:PTHR15923:SF1,hmmpanther:PTHR15923																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	32	35266950	35266950	GTGGCCGT	-	1	0	1	0	1	0	0	0	0	8971	1029	36	0		0	LSR	19	35266950	Frame_Shift_Del	DEL	GTGGCCGT	C3L-02348_TP	17818625	35266950	23350666	53	9415											
FCGBP	0	.	GRCh38	chr19	39875705	39875705	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacctgccatccagcgggcTtcccgcccacagccttgagg	6	6	10	19	2	0	1	0	1	0	0	2	1	2	1	7	2	3	1	7	2	0	2	novel		C3L-02348_TP	C3L-02348_NB	T	T																c.10286A>C	p.Lys3429Thr	p.K3429T	ENST00000616721	22/28	652	554	98	662	662	0	strelka-varscan-mutect	FCGBP,missense_variant,p.Lys3429Thr,ENST00000616721,NM_003890.2;	G	ENST00000616721	Transcript	missense_variant	10294/12787	10286/12615	3429/4204	K/T	aAg/aCg		1		-1	FCGBP	HGNC	HGNC:13572	protein_coding	YES		ENSP00000481056		A0A087WXI2	UPI0004620B9E	NM_003890.2	tolerated(0.33)		22/28		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF244																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	32	39875705	39875705	T	G	1	0	0	0	0	1	0	0	0	5641	1609	56	5		5	FCGBP	19	39875705	Missense_Mutation	SNP	T	C3L-02348_TP	4608755	39875705	18741911	54	9416											
SCAF1	0	.	GRCh38	chr19	49652105	49652110	+	In_Frame_Del	DEL	CCGCTC	CCGCTC	-																															gcctcgtcgtccgcccgccgCcgctcccgctcccgctcccg																								rs3833232		C3L-02348_TP	C3L-02348_NB	CCGCTC	CCGCTC																c.1741_1746delCGCTCC	p.Arg581_Ser582del	p.R581_S582del	ENST00000360565	7/11	39	17	22	11	11	0	sindel-varindel	SCAF1,inframe_deletion,p.Arg581_Ser582del,ENST00000360565,NM_021228.2;SCAF1,downstream_gene_variant,,ENST00000598359,;	-	ENST00000360565	Transcript	inframe_deletion	1840-1845/4306	1716-1721/3939	572-574/1312	RRS/R	cgCCGCTCc/cgc	rs3833232,COSM4387053	1		1	SCAF1	HGNC	HGNC:30403	protein_coding	YES	CCDS33074.1	ENSP00000353769	Q9H7N4		UPI0000071891	NM_021228.2			7/11		Low_complexity_(Seg):seg											0,1						MODERATE	1	deletion	2	25	0,1	1										PASS		.	.												-	7	5	32	49652105	49652105	CCGCTC	-	1	0	1	0	1	0	0	0	0	14132	726	26	0		0	SCAF1	19	49652105	In_Frame_Del	DEL	CCGCTC	C3L-02348_TP	9776400	49652105	8965511	55	9417											
LILRA6	0	.	GRCh38	chr19	54240941	54240941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggggctcacagggcccaggGtgaagttggcctgggagagc	8	5	19	9	0	1	2	1	1	0	1	1	3	1	2	2	6	1	2	2	6	1	1	novel		C3L-02348_TP	C3L-02348_NB	G	G																c.845C>A	p.Thr282Asn	p.T282N	ENST00000396365	5/8	576	531	45	626	625	1	varscan-mutect	LILRA6,missense_variant,p.Thr282Asn,ENST00000396365,NM_024318.3;LILRA6,missense_variant,p.Thr282Asn,ENST00000245621,;LILRA6,3_prime_UTR_variant,,ENST00000430421,;RPS9,intron_variant,,ENST00000448962,;LILRA6,downstream_gene_variant,,ENST00000270464,;	T	ENST00000396365	Transcript	missense_variant	885/1890	845/1446	282/481	T/N	aCc/aAc		1		-1	LILRA6	HGNC	HGNC:15495	protein_coding	YES	CCDS42610.1	ENSP00000379651	Q6PI73	U5XH19	UPI000292EF7A	NM_024318.3	deleterious(0.03)		5/8		Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF116,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1241984592	.												T	3	4	32	54240941	54240941	G	T	1	0	0	0	0	1	0	0	0	8697	1261	44	2		2	LILRA6	19	54240941	Missense_Mutation	SNP	G	C3L-02348_TP	4588836	54240941	4376675	56	9418											
ZNF419	0	.	GRCh38	chr19	57493859	57493859	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtgcagggaatgtgggaaAttttttagccaaagctcaac	13	10	12	6	0	1	0	1	0	0	0	1	3	1	2	1	2	4	2	1	2	5	3	rs749176400		C3L-02348_TP	C3L-02348_NB	A	A																c.1305A>G	p.=	p.K435K	ENST00000424930	5/5	145	137	8	178	176	2	varscan-mutect	ZNF419,synonymous_variant,p.=,ENST00000347466,NM_001098494.1,NM_001291743.1;ZNF419,synonymous_variant,p.=,ENST00000424930,NM_001098491.1;ZNF419,synonymous_variant,p.=,ENST00000426954,NM_001098492.1;ZNF419,synonymous_variant,p.=,ENST00000221735,NM_024691.3;ZNF419,synonymous_variant,p.=,ENST00000415379,NM_001098496.1,NM_001098495.1;ZNF419,synonymous_variant,p.=,ENST00000442920,NM_001098493.1;ZNF419,synonymous_variant,p.=,ENST00000618093,;ZNF419,intron_variant,,ENST00000354197,;ZNF419,downstream_gene_variant,,ENST00000518999,;ZNF419,downstream_gene_variant,,ENST00000521137,;ZNF419,downstream_gene_variant,,ENST00000523882,;ZNF419,downstream_gene_variant,,ENST00000523312,;ZNF419,downstream_gene_variant,,ENST00000520540,;ZNF419,downstream_gene_variant,,ENST00000519310,;ZNF419,downstream_gene_variant,,ENST00000521754,;ZNF419,downstream_gene_variant,,ENST00000523138,;ZNF419,non_coding_transcript_exon_variant,,ENST00000522346,;ZNF419,non_coding_transcript_exon_variant,,ENST00000523439,;AC003005.4,intron_variant,,ENST00000601674,;AC003005.4,intron_variant,,ENST00000599674,;	G	ENST00000424930	Transcript	synonymous_variant	1534/2323	1305/1536	435/511	K	aaA/aaG	rs749176400,COSM4743777,COSM4743778,COSM4743779	1		1	ZNF419	HGNC	HGNC:20648	protein_coding	YES	CCDS54325.1	ENSP00000388864	Q96HQ0		UPI0000E04CBA	NM_001098491.1			5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF195,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs749176400	.												G	2	3	32	57493859	57493859	A	G	1	0	0	0	0	0	0	0	1	18468	98	4	5		5	ZNF419	19	57493859	Silent	SNP	A	C3L-02348_TP	3252918	57493859	1123757	57	9419											
GNAS	0	.	GRCh38	chr20	58909541	58909541	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtttgacgtgggtggccAgcgcgatgaacgccgcaagt	8	8	15	10	5	0	2	0	2	0	0	0	3	0	2	2	2	2	2	2	2	2	1	rs121913494		C3L-02348_TP	C3L-02348_NB	A	A																c.2609A>T	p.Gln870Leu	p.Q870L	ENST00000371100	9/13	734	587	147	751	750	1	strelka-varscan-mutect	GNAS,missense_variant,p.Gln870Leu,ENST00000371100,NM_080425.2;GNAS,missense_variant,p.Gln856Leu,ENST00000371102,;GNAS,missense_variant,p.Gln228Leu,ENST00000354359,NM_001077488.2;GNAS,missense_variant,p.Gln227Leu,ENST00000371085,NM_000516.4;GNAS,missense_variant,p.Gln213Leu,ENST00000371095,NM_080426.2;GNAS,missense_variant,p.Gln212Leu,ENST00000265620,NM_001077489.2;GNAS,3_prime_UTR_variant,,ENST00000313949,;GNAS,3_prime_UTR_variant,,ENST00000371075,NM_016592.2;GNAS,intron_variant,,ENST00000306090,;GNAS,downstream_gene_variant,,ENST00000419558,;GNAS,downstream_gene_variant,,ENST00000604005,;GNAS,downstream_gene_variant,,ENST00000450130,;GNAS,downstream_gene_variant,,ENST00000349036,;GNAS,downstream_gene_variant,,ENST00000603546,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,non_coding_transcript_exon_variant,,ENST00000477931,;GNAS,non_coding_transcript_exon_variant,,ENST00000480975,;GNAS,non_coding_transcript_exon_variant,,ENST00000488652,;GNAS,non_coding_transcript_exon_variant,,ENST00000470512,;GNAS,non_coding_transcript_exon_variant,,ENST00000488546,;GNAS,non_coding_transcript_exon_variant,,ENST00000480232,;GNAS,non_coding_transcript_exon_variant,,ENST00000476935,;GNAS,non_coding_transcript_exon_variant,,ENST00000492907,;GNAS,non_coding_transcript_exon_variant,,ENST00000481039,;GNAS,non_coding_transcript_exon_variant,,ENST00000467321,;GNAS,non_coding_transcript_exon_variant,,ENST00000468895,;GNAS,non_coding_transcript_exon_variant,,ENST00000493958,;GNAS,intron_variant,,ENST00000494081,;GNAS,downstream_gene_variant,,ENST00000472183,;GNAS,downstream_gene_variant,,ENST00000485673,;GNAS,downstream_gene_variant,,ENST00000482112,;GNAS,downstream_gene_variant,,ENST00000469431,;GNAS,downstream_gene_variant,,ENST00000490374,;GNAS,downstream_gene_variant,,ENST00000464788,;GNAS,downstream_gene_variant,,ENST00000467227,;GNAS,downstream_gene_variant,,ENST00000478585,;GNAS,non_coding_transcript_exon_variant,,ENST00000496934,;GNAS,non_coding_transcript_exon_variant,,ENST00000476196,;GNAS,non_coding_transcript_exon_variant,,ENST00000487862,;GNAS,non_coding_transcript_exon_variant,,ENST00000487981,;GNAS,non_coding_transcript_exon_variant,,ENST00000479025,;GNAS,upstream_gene_variant,,ENST00000475610,;	T	ENST00000371100	Transcript	missense_variant	3161/4029	2609/3114	870/1037	Q/L	cAg/cTg	rs121913494,COSM1566191,COSM1731065,COSM27888,COSM27896	1		1	GNAS	HGNC	HGNC:4392	protein_coding	YES	CCDS46622.1	ENSP00000360141	Q5JWF2		UPI0000E444AE	NM_080425.2	deleterious(0.04)		9/13		Gene3D:3.40.50.300,Pfam_domain:PF00503,Prints_domain:PR00318,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF36,SMART_domains:SM00275,Superfamily_domains:SSF52540										pathogenic	0,1,1,1,1						MODERATE	1	SNV	5		1,1,1,1,1	1										PASS		rs121913494	.												T	3	4	32	58909541	58909541	A	T	1	0	0	0	0	1	0	0	0	6390	188	7	4		4	GNAS	20	58909541	Missense_Mutation	SNP	A	C3L-02348_TP		58909541	5534626	58	9420											
SYCP2	0	.	GRCh38	chr20	59901664	59901664	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaagtttaaagacttacccTatgtttagttgcaccaaaaa	15	14	5	7	0	0	1	0	0	0	1	0	1	0	1	2	0	2	4	2	0	8	8	novel		C3L-02348_TP	C3L-02348_NB	T	T																c.1180A>T	p.Arg394Trp	p.R394W	ENST00000357552	16/45	61	49	12	92	92	0	strelka-varscan-mutect	SYCP2,missense_variant,p.Arg394Trp,ENST00000357552,;SYCP2,missense_variant,p.Arg394Trp,ENST00000371001,NM_014258.2;SYCP2,missense_variant,p.Arg394Trp,ENST00000446834,;SYCP2,splice_region_variant,,ENST00000461538,;	A	ENST00000357552	Transcript	missense_variant,splice_region_variant	1406/5567	1180/4593	394/1530	R/W	Agg/Tgg		1		-1	SYCP2	HGNC	HGNC:11490	protein_coding	YES	CCDS13482.1	ENSP00000350162	Q9BX26		UPI0000135683		deleterious(0.03)		16/45		hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	32	59901664	59901664	T	A	1	0	0	0	0	1	0	0	0	15822	1536	53	4		4	SYCP2	20	59901664	Missense_Mutation	SNP	T	C3L-02348_TP	992123	59901664	4542503	59	9421											
LZTR1	0	.	GRCh38	chr22	20982565	20982565	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccctgcgacgagttcgtggGtgcccggtacggtgggcttc	3	9	17	12	5	0	0	0	0	0	0	2	2	0	0	2	4	3	3	2	4	1	3	novel		C3L-02348_TP	C3L-02348_NB	G	G																c.194G>C	p.Gly65Ala	p.G65A	ENST00000215739	1/21	193	153	40	171	171	0	strelka-varscan-mutect	LZTR1,missense_variant,p.Gly65Ala,ENST00000215739,NM_006767.3;AIFM3,downstream_gene_variant,,ENST00000399167,NM_144704.2;AIFM3,downstream_gene_variant,,ENST00000440238,;AIFM3,downstream_gene_variant,,ENST00000405089,NM_001146288.1;AIFM3,downstream_gene_variant,,ENST00000399163,NM_001018060.2;XXbac-B135H6.18,upstream_gene_variant,,ENST00000610278,;LZTR1,intron_variant,,ENST00000479606,;AIFM3,downstream_gene_variant,,ENST00000465606,;AIFM3,downstream_gene_variant,,ENST00000483107,;LZTR1,upstream_gene_variant,,ENST00000480895,;LZTR1,missense_variant,p.Gly65Ala,ENST00000414985,;LZTR1,missense_variant,p.Gly65Ala,ENST00000443265,;LZTR1,non_coding_transcript_exon_variant,,ENST00000493460,;AIFM3,downstream_gene_variant,,ENST00000486003,;	C	ENST00000215739	Transcript	missense_variant	553/4572	194/2523	65/840	G/A	gGt/gCt		1		1	LZTR1	HGNC	HGNC:6742	protein_coding	YES	CCDS33606.1	ENSP00000215739	Q8N653		UPI000013C695	NM_006767.3	tolerated(0.15)		1/21		hmmpanther:PTHR23244:SF285,hmmpanther:PTHR23244,Superfamily_domains:0052715																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	32	20982565	20982565	G	C	1	0	0	0	0	1	0	0	0	9050	1261	44	4		4	LZTR1	22	20982565	Missense_Mutation	SNP	G	C3L-02348_TP		20982565	29835903	60	9422											
ZFX	0	.	GRCh38	chrX	24208935	24208935	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattgaaaaccggaatggcActgcaagtgccctcttgcac	12	8	10	11	1	1	1	0	1	1	0	1	3	1	2	2	2	4	3	2	2	5	2	novel		C3L-02348_TP	C3L-02348_NB	A	A																c.1129A>G	p.Thr377Ala	p.T377A	ENST00000379177	10/11	316	242	74	342	342	0	strelka-varscan-mutect	ZFX,missense_variant,p.Thr377Ala,ENST00000379177,NM_001178095.1,NM_001178084.1,NM_001178085.1,NM_003410.3;ZFX,missense_variant,p.Thr416Ala,ENST00000379188,;ZFX,missense_variant,p.Thr148Ala,ENST00000539115,NM_001178086.1;ZFX,missense_variant,p.Thr377Ala,ENST00000304543,;ZFX,missense_variant,p.Thr327Ala,ENST00000338565,;ZFX,non_coding_transcript_exon_variant,,ENST00000459724,;	G	ENST00000379177	Transcript	missense_variant	1556/7558	1129/2418	377/805	T/A	Act/Gct		1		1	ZFX	HGNC	HGNC:12869	protein_coding	YES	CCDS14211.1	ENSP00000368475	P17010	A0A024RC04	UPI000013C504	NM_001178095.1,NM_001178084.1,NM_001178085.1,NM_003410.3	tolerated(0.82)		10/11		hmmpanther:PTHR24387:SF222,hmmpanther:PTHR24387,Pfam_domain:PF04704																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	32	24208935	24208935	A	G	1	0	0	0	0	1	0	0	0	18239	159	6	5		5	ZFX	23	24208935	Missense_Mutation	SNP	A	C3L-02348_TP		24208935	131831960	61	9423											
FAM47B	0	.	GRCh38	chrX	34942886	34942886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccaaggcatggactccaagCcctggtactgtgacaaaccg	11	6	10	14	1	0	1	0	1	0	0	1	2	1	2	4	3	3	2	4	3	4	1			C3L-02348_TP	C3L-02348_NB	C	C																c.55C>A	p.Pro19Thr	p.P19T	ENST00000329357	1/1	102	86	16	138	138	0	strelka-varscan-mutect	FAM47B,missense_variant,p.Pro19Thr,ENST00000329357,NM_152631.2;	A	ENST00000329357	Transcript	missense_variant	91/2120	55/1938	19/645	P/T	Ccc/Acc	COSM1467740,COSM5469082	1		1	FAM47B	HGNC	HGNC:26659	protein_coding	YES	CCDS14236.1	ENSP00000328307	Q8NA70		UPI000013F47B	NM_152631.2	deleterious(0)		1/1		Pfam_domain:PF14642											1,1						MODERATE	1	SNV			1,1	1										PASS		.	.												A	3	1	32	34942886	34942886	C	A	1	0	0	0	0	1	0	0	0	5448	739	26	2		2	FAM47B	23	34942886	Missense_Mutation	SNP	C	C3L-02348_TP	10733951	34942886	121098009	62	9424											
APOOL	0	.	GRCh38	chrX	85074083	85074083	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagcagcaaagaagagtCactccctaaacctaaagaaa	22	4	6	9	0	1	3	1	0	0	3	2	3	2	3	2	0	3	2	2	0	9	2	novel		C3L-02348_TP	C3L-02348_NB	C	C																c.572C>A	p.Ser191Ter	p.S191*	ENST00000373173	7/9	170	150	20	234	234	0	strelka-varscan-mutect	APOOL,stop_gained,p.Ser191Ter,ENST00000613473,;APOOL,stop_gained,p.Ser191Ter,ENST00000373173,NM_198450.5;APOOL,missense_variant,p.His186Asn,ENST00000622540,;	A	ENST00000373173	Transcript	stop_gained	659/1279	572/807	191/268	S/*	tCa/tAa		1		1	APOOL	HGNC	HGNC:24009	protein_coding	YES	CCDS48138.1	ENSP00000362268	Q6UXV4		UPI00001D6936	NM_198450.5			7/9		hmmpanther:PTHR14564,hmmpanther:PTHR14564:SF3,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	32	85074083	85074083	C	A	1	0	0	0	0	0	1	0	0	936	838	29	2		2	APOOL	23	85074083	Nonsense_Mutation	SNP	C	C3L-02348_TP	50131197	85074083	70966812	63	9425											
LCE2D	0	.	GRCh38	chr1	152664373	152664373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgccggcaccagagccccGattgctgtgagagtgaacct	8	6	14	13	3	0	3	0	2	0	2	0	5	0	3	5	2	3	2	5	2	1	1	rs753899892		C3L-02350_TP	C3L-02350_NB	G	G																c.268G>A	p.Asp90Asn	p.D90N	ENST00000368784	2/2	146	123	23	142	142	0	strelka-varscan-mutect	LCE2D,missense_variant,p.Asp90Asn,ENST00000368784,NM_178430.3;	A	ENST00000368784	Transcript	missense_variant	323/609	268/333	90/110	D/N	Gat/Aat	rs753899892,COSM4953408	1		1	LCE2D	HGNC	HGNC:16518	protein_coding	YES	CCDS1018.1	ENSP00000357773	Q5TA82		UPI00001927D4	NM_178430.3	tolerated_low_confidence(0.62)		2/2		Pfam_domain:PF14672,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF51											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs753899892	.												A	3	1	33	152664373	152664373	G	A	1	0	0	0	0	1	0	0	0	8573	1058	37	1		1	LCE2D	1	152664373	Missense_Mutation	SNP	G	C3L-02350_TP		152664373	96292049	1	9426											
OR2B11	0	.	GRCh38	chr1	247451337	247451337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataggagagaaggatgagagCcaggggcaccaacacgaaga	17	2	15	7	1	0	3	0	1	0	3	0	8	0	5	2	4	2	1	2	4	4	1	novel		C3L-02350_TP	C3L-02350_NB	C	C																c.646G>A	p.Ala216Thr	p.A216T	ENST00000318749	1/1	237	214	23	215	215	0	strelka-varscan-mutect	OR2B11,missense_variant,p.Ala216Thr,ENST00000318749,NM_001004492.1;NLRP3,downstream_gene_variant,,ENST00000366497,NM_001127461.2;NLRP3,downstream_gene_variant,,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000391828,NM_001079821.2;NLRP3,downstream_gene_variant,,ENST00000348069,NM_183395.2;NLRP3,downstream_gene_variant,,ENST00000391827,NM_001127462.2;NLRP3,downstream_gene_variant,,ENST00000532083,;	T	ENST00000318749	Transcript	missense_variant	646/954	646/954	216/317	A/T	Gct/Act		1		-1	OR2B11	HGNC	HGNC:31249	protein_coding	YES	CCDS31090.1	ENSP00000325682	Q5JQS5	A0A126GVY5	UPI0000418F50	NM_001004492.1	tolerated(0.58)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF112,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE		SNV				1										PASS		.	.												T	3	4	33	247451337	247451337	C	T	1	0	0	0	0	1	0	0	0	11067	739	26	3		3	OR2B11	1	247451337	Missense_Mutation	SNP	C	C3L-02350_TP	94786964	247451337	1505085	2	9427											
SOS1	0	.	GRCh38	chr2	39067726	39067726	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcatcatcattagactCgagagtaggatgaacttgcc	14	9	10	8	1	2	4	2	1	0	3	3	6	2	5	1	1	3	2	1	1	4	3	rs375934353		C3L-02350_TP	C3L-02350_NB	C	C																c.115G>T	p.Glu39Ter	p.E39*	ENST00000426016	3/24	325	277	48	359	359	0	strelka-varscan-mutect	SOS1,stop_gained,p.Glu39Ter,ENST00000426016,;SOS1,stop_gained,p.Glu39Ter,ENST00000402219,NM_005633.3;SOS1,stop_gained,p.Glu39Ter,ENST00000395038,;SOS1,5_prime_UTR_variant,,ENST00000451331,;	A	ENST00000426016	Transcript	stop_gained	202/8517	115/4002	39/1333	E/*	Gag/Tag	rs375934353	1		-1	SOS1	HGNC	HGNC:11187	protein_coding	YES	CCDS1802.1	ENSP00000387784	Q07889		UPI0000135CF0				3/24		hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF168,Gene3D:1.10.20.10,Superfamily_domains:SSF47113																	HIGH	1	SNV	2			1										PASS		rs375934353	.												A	4	1	33	39067726	39067726	C	A	1	0	0	0	0	0	1	0	0	15258	893	31	1		1	SOS1	2	39067726	Nonsense_Mutation	SNP	C	C3L-02350_TP		39067726	203125803	3	9428											
POLR1A	0	.	GRCh38	chr2	86027458	86027458	+	Frame_Shift_Del	DEL	T	T	-																															cttgagctcgaacaggcctgTcccgcccctgacgaccttcc																								novel		C3L-02350_TP	C3L-02350_NB	T	T																c.5128delA	p.Thr1710GlnfsTer10	p.T1710Qfs*10	ENST00000263857	34/34	293	269	24	258	258	0	sindel-varindel-pindel	POLR1A,frameshift_variant,p.Thr1710GlnfsTer10,ENST00000263857,NM_015425.3;POLR1A,frameshift_variant,p.Thr1649GlnfsTer10,ENST00000409681,;POLR1A,downstream_gene_variant,,ENST00000492034,;POLR1A,downstream_gene_variant,,ENST00000496892,;POLR1A,downstream_gene_variant,,ENST00000471427,;	-	ENST00000263857	Transcript	frameshift_variant	5507/12749	5128/5163	1710/1720	T/X	Aca/ca		1		-1	POLR1A	HGNC	HGNC:17264	protein_coding	YES	CCDS42706.1	ENSP00000263857	O95602		UPI0000D7DB86	NM_015425.3			34/34		hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF11,Superfamily_domains:SSF64484																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	33	86027458	86027458	T	-	1	0	1	0	1	0	0	0	0	12319	1667	58	0		0	POLR1A	2	86027458	Frame_Shift_Del	DEL	T	C3L-02350_TP	46959732	86027458	156166071	4	9429											
SNRNP200	0	.	GRCh38	chr2	96275336	96275336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccaatcaccacccaccagCcctcttcacgtttctgcagt	8	10	4	19	1	4	0	2	0	2	0	5	0	5	0	5	0	2	2	5	0	1	2	novel		C3L-02350_TP	C3L-02350_NB	C	C																c.6188G>T	p.Gly2063Val	p.G2063V	ENST00000323853	44/45	538	489	49	446	446	0	strelka-varscan-mutect	SNRNP200,missense_variant,p.Gly2063Val,ENST00000323853,NM_014014.4;CIAO1,downstream_gene_variant,,ENST00000488633,NM_004804.2;SNRNP200,3_prime_UTR_variant,,ENST00000429650,;SNRNP200,non_coding_transcript_exon_variant,,ENST00000497539,;CIAO1,downstream_gene_variant,,ENST00000272402,;SNRNP200,downstream_gene_variant,,ENST00000493271,;SNRNP200,downstream_gene_variant,,ENST00000484372,;SNRNP200,downstream_gene_variant,,ENST00000480835,;	A	ENST00000323853	Transcript	missense_variant	6266/7165	6188/6411	2063/2136	G/V	gGc/gTc		1		-1	SNRNP200	HGNC	HGNC:30859	protein_coding	YES	CCDS2020.1	ENSP00000317123	O75643		UPI0000207C53	NM_014014.4	deleterious(0.02)		44/45		hmmpanther:PTHR24075,Gene3D:2.60.40.150,PIRSF_domain:PIRSF039073,Pfam_domain:PF02889,SMART_domains:SM00973,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	33	96275336	96275336	C	A	1	0	0	0	0	1	0	0	0	15172	739	26	2		2	SNRNP200	2	96275336	Missense_Mutation	SNP	C	C3L-02350_TP	10247878	96275336	145918193	5	9430											
IL36G	0	.	GRCh38	chr2	112985026	112985026	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagtcatacaacactgccTttgaattaaatataaatgac	17	11	6	7	0	1	2	1	2	0	0	1	3	1	3	1	1	3	0	1	1	9	5	novel		C3L-02350_TP	C3L-02350_NB	T	T																c.487T>C	p.Phe163Leu	p.F163L	ENST00000259205	5/5	154	129	25	169	169	0	strelka-varscan-mutect	IL36G,missense_variant,p.Phe163Leu,ENST00000259205,NM_019618.3;IL36G,missense_variant,p.Phe128Leu,ENST00000376489,NM_001278568.1;HMGN2P23,upstream_gene_variant,,ENST00000456759,;	C	ENST00000259205	Transcript	missense_variant	556/1195	487/510	163/169	F/L	Ttt/Ctt		1		1	IL36G	HGNC	HGNC:15741	protein_coding	YES	CCDS2108.1	ENSP00000259205	Q9NZH8		UPI0000038BF0	NM_019618.3	deleterious(0)		5/5		hmmpanther:PTHR10078:SF27,hmmpanther:PTHR10078,Gene3D:2.80.10.50,SMART_domains:SM00125,Superfamily_domains:SSF50353																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	33	112985026	112985026	T	C	1	0	0	0	0	1	0	0	0	7596	1609	56	5		5	IL36G	2	112985026	Missense_Mutation	SNP	T	C3L-02350_TP	16709690	112985026	129208503	6	9431											
LRP1B	0	.	GRCh38	chr2	140364783	140364783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctctacatatatttcctCctttattttaaaacaaaaag	15	15	2	9	0	1	0	0	0	1	0	3	0	3	0	2	0	3	1	2	0	8	8	novel		C3L-02350_TP	C3L-02350_NB	C	C																c.11009G>T	p.Gly3670Val	p.G3670V	ENST00000389484	72/91	110	96	14	125	125	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Gly3670Val,ENST00000389484,NM_018557.2;	A	ENST00000389484	Transcript	missense_variant,splice_region_variant	11981/16535	11009/13800	3670/4599	G/V	gGa/gTa		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(0.22)		72/91																			MODERATE	1	SNV	1			1										PASS		rs1290040715	.												A	3	1	33	140364783	140364783	C	A	1	0	0	0	0	1	0	0	0	8850	869	30	2		2	LRP1B	2	140364783	Missense_Mutation	SNP	C	C3L-02350_TP	27379757	140364783	101828746	7	9432											
DYTN	0	.	GRCh38	chr2	206663373	206663373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaaggaagaagatgaaGgaccgggtggctgcaacctt	13	8	14	6	1	0	4	0	2	0	2	0	6	0	6	2	4	2	2	2	4	5	2	novel		C3L-02350_TP	C3L-02350_NB	G	G																c.1163C>T	p.Pro388Leu	p.P388L	ENST00000452335	11/12	91	86	5	106	106	0	strelka-mutect	DYTN,missense_variant,p.Pro388Leu,ENST00000452335,NM_001093730.1;	A	ENST00000452335	Transcript	missense_variant	1280/2051	1163/1737	388/578	P/L	cCt/cTt		1		-1	DYTN	HGNC	HGNC:23279	protein_coding	YES	CCDS46502.1	ENSP00000396593	A2CJ06		UPI0000EE0AB9	NM_001093730.1	deleterious(0.01)		11/12		hmmpanther:PTHR11915:SF282,hmmpanther:PTHR11915																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	33	206663373	206663373	G	A	1	0	0	0	0	1	0	0	0	4684	1000	35	3		3	DYTN	2	206663373	Missense_Mutation	SNP	G	C3L-02350_TP	66298590	206663373	35530156	8	9433											
GRM7	0	.	GRCh38	chr3	7461708	7461709	+	Frame_Shift_Del	DEL	GA	GA	-																															tgatcgggcagtggacagacGaacttcagctcaatgtgagt																								novel		C3L-02350_TP	C3L-02350_NB	GA	GA																c.1501_1502delGA	p.Glu501ThrfsTer12	p.E501Tfs*12	ENST00000357716	7/10	165	139	26	152	152	0	sindel-varindel-pindel	GRM7,frameshift_variant,p.Glu501ThrfsTer12,ENST00000486284,NM_181874.2;GRM7,frameshift_variant,p.Glu501ThrfsTer12,ENST00000357716,NM_000844.3;GRM7,frameshift_variant,p.Glu501ThrfsTer12,ENST00000389336,;GRM7,frameshift_variant,p.Glu256ThrfsTer12,ENST00000402647,;GRM7,frameshift_variant,p.Glu158ThrfsTer12,ENST00000445087,;GRM7,non_coding_transcript_exon_variant,,ENST00000458641,;GRM7,frameshift_variant,p.Glu501ThrfsTer12,ENST00000467425,;GRM7,frameshift_variant,p.Glu501ThrfsTer12,ENST00000440923,;GRM7,frameshift_variant,p.Glu501ThrfsTer12,ENST00000389335,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;	-	ENST00000357716	Transcript	frameshift_variant	1775-1776/4127	1501-1502/2748	501/915	E/X	GAa/a		1		1	GRM7	HGNC	HGNC:4599	protein_coding	YES	CCDS43042.1	ENSP00000350348	Q14831		UPI000004A7E3	NM_000844.3			7/10		hmmpanther:PTHR24060:SF98,hmmpanther:PTHR24060,Superfamily_domains:SSF53822																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	33	7461708	7461708	GA	-	1	0	1	0	1	0	0	0	0	6684	1059	37	0		0	GRM7	3	7461708	Frame_Shift_Del	DEL	GA	C3L-02350_TP		7461708	190833851	9	9434											
VWA5B2	0	.	GRCh38	chr3	184234668	184234668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgatgctggagggcggcagCctgagctcagcagaatatga	10	7	15	9	1	1	4	1	3	0	1	1	5	1	5	1	3	4	4	1	3	2	1	novel		C3L-02350_TP	C3L-02350_NB	C	C																c.858C>A	p.Ser286Arg	p.S286R	ENST00000426955	6/19	224	204	20	180	179	1	strelka-varscan-mutect	VWA5B2,missense_variant,p.Ser286Arg,ENST00000426955,NM_138345.1;VWA5B2,missense_variant,p.Ser67Arg,ENST00000273794,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000461141,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000497229,;VWA5B2,upstream_gene_variant,,ENST00000474580,;	A	ENST00000426955	Transcript	missense_variant	958/4120	858/3729	286/1242	S/R	agC/agA		1		1	VWA5B2	HGNC	HGNC:25144	protein_coding	YES	CCDS54686.1	ENSP00000398688	Q8N398		UPI0000412DE9	NM_138345.1	tolerated(0.55)		6/19		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	33	184234668	184234668	C	A	1	0	0	0	0	1	0	0	0	17798	738	26	2		2	VWA5B2	3	184234668	Missense_Mutation	SNP	C	C3L-02350_TP	176772960	184234668	14060891	10	9435											
FAM200B	0	.	GRCh38	chr4	15688587	15688587	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaagggaaaacagttgggTaaaagatccatttgcttttc	14	13	9	5	0	0	1	0	0	0	1	2	2	1	2	1	2	2	3	1	2	5	6	novel		C3L-02350_TP	C3L-02350_NB	T	T																c.1610T>C	p.Val537Ala	p.V537A	ENST00000622362	2/2	122	110	12	185	185	0	varscan-mutect	FAM200B,missense_variant,p.Val537Ala,ENST00000622362,NM_001145191.1;FAM200B,missense_variant,p.Val537Ala,ENST00000422728,;FAM200B,downstream_gene_variant,,ENST00000503617,;FAM200B,non_coding_transcript_exon_variant,,ENST00000504137,;FAM200B,non_coding_transcript_exon_variant,,ENST00000505260,;FAM200B,non_coding_transcript_exon_variant,,ENST00000502856,;FAM200B,non_coding_transcript_exon_variant,,ENST00000506610,;FAM200B,non_coding_transcript_exon_variant,,ENST00000504823,;FAM200B,non_coding_transcript_exon_variant,,ENST00000515697,;FAM200B,non_coding_transcript_exon_variant,,ENST00000503600,;FAM200B,intron_variant,,ENST00000504598,;FAM200B,downstream_gene_variant,,ENST00000507305,;FAM200B,downstream_gene_variant,,ENST00000515430,;FAM200B,downstream_gene_variant,,ENST00000513053,;FAM200B,downstream_gene_variant,,ENST00000510920,;FAM200B,downstream_gene_variant,,ENST00000512855,;FAM200B,downstream_gene_variant,,ENST00000510032,;FAM200B,downstream_gene_variant,,ENST00000502502,;FAM200B,downstream_gene_variant,,ENST00000508567,;FAM200B,downstream_gene_variant,,ENST00000514803,;FAM200B,downstream_gene_variant,,ENST00000509022,;FAM200B,downstream_gene_variant,,ENST00000507992,;FAM200B,downstream_gene_variant,,ENST00000510186,;	C	ENST00000622362	Transcript	missense_variant	2525/4377	1610/1974	537/657	V/A	gTa/gCa		1		1	FAM200B	HGNC	HGNC:27740	protein_coding	YES	CCDS47028.1	ENSP00000483930	P0CF97		UPI0000160C4C	NM_001145191.1	deleterious(0)		2/2		hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF93,Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	33	15688587	15688587	T	C	1	0	0	0	0	1	0	0	0	5384	1638	57	5		5	FAM200B	4	15688587	Missense_Mutation	SNP	T	C3L-02350_TP		15688587	174525968	11	9436											
PPBP	0	.	GRCh38	chr4	73988092	73988092	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaggggtggtatcaagTctgaggctcatggtggagaa	11	8	17	5	0	3	2	2	1	1	1	3	4	3	3	0	7	0	2	0	7	4	1	novel		C3L-02350_TP	C3L-02350_NB	T	T																c.12A>T	p.Arg4Ser	p.R4S	ENST00000296028	1/3	190	156	34	231	231	0	strelka-varscan-mutect	PPBP,missense_variant,p.Arg4Ser,ENST00000296028,NM_002704.3;	A	ENST00000296028	Transcript	missense_variant	106/715	12/387	4/128	R/S	agA/agT		1		-1	PPBP	HGNC	HGNC:9240	protein_coding	YES	CCDS3563.1	ENSP00000296028	P02775		UPI00000012C5	NM_002704.3	deleterious(0)		1/3		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	33	73988092	73988092	T	A	1	0	0	0	0	1	0	0	0	12412	1664	58	4		4	PPBP	4	73988092	Missense_Mutation	SNP	T	C3L-02350_TP	58299505	73988092	116226463	12	9437											
KCNN2	0	.	GRCh38	chr5	114496094	114496094	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagctacgacaagcacgTcacttacaatgctgagcggt	12	7	12	10	3	1	2	1	1	0	1	1	4	1	2	0	2	6	3	0	2	4	2	novel		C3L-02350_TP	C3L-02350_NB	T	T																c.1652T>C	p.Val551Ala	p.V551A	ENST00000512097	9/9	407	353	54	324	324	0	strelka-varscan-mutect	KCNN2,missense_variant,p.Val551Ala,ENST00000512097,;KCNN2,missense_variant,p.Val551Ala,ENST00000264773,NM_021614.3;KCNN2,missense_variant,p.Val554Ala,ENST00000631899,;KCNN2,missense_variant,p.Val203Ala,ENST00000610748,NM_001278204.1;KCNN2,missense_variant,p.Val203Ala,ENST00000503706,NM_170775.2;RP11-492A10.1,splice_region_variant,,ENST00000514115,;KCNN2,downstream_gene_variant,,ENST00000507750,;KCNN2,downstream_gene_variant,,ENST00000505491,;KCNN2,downstream_gene_variant,,ENST00000506812,;KCNN2,downstream_gene_variant,,ENST00000632892,;	C	ENST00000512097	Transcript	missense_variant	2670/3076	1652/1740	551/579	V/A	gTc/gCc		1		1	KCNN2	HGNC	HGNC:6291	protein_coding	YES	CCDS4114.1	ENSP00000427120	Q9H2S1		UPI000013D56A		tolerated_low_confidence(0.55)		9/9		hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF43																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	33	114496094	114496094	T	C	1	0	0	0	0	1	0	0	0	7995	1667	58	5		5	KCNN2	5	114496094	Missense_Mutation	SNP	T	C3L-02350_TP		114496094	67042165	13	9438											
RFX6	0	.	GRCh38	chr6	116927252	116927252	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaccagctctaactaccAgactgtgtttagggcacagc	11	9	9	12	0	1	1	0	0	1	1	1	1	1	1	2	1	5	4	2	1	4	5	novel		C3L-02350_TP	C3L-02350_NB	A	A																c.2111A>G	p.Gln704Arg	p.Q704R	ENST00000332958	17/19	362	325	37	349	349	0	strelka-varscan-mutect	RFX6,missense_variant,p.Gln704Arg,ENST00000332958,NM_173560.3;RFX6,downstream_gene_variant,,ENST00000487683,;	G	ENST00000332958	Transcript	missense_variant	2127/3460	2111/2787	704/928	Q/R	cAg/cGg		1		1	RFX6	HGNC	HGNC:21478	protein_coding	YES	CCDS5113.1	ENSP00000332208	Q8HWS3		UPI00001609BE	NM_173560.3	deleterious_low_confidence(0.01)		17/19		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	33	116927252	116927252	A	G	1	0	0	0	0	1	0	0	0	13441	188	7	5		5	RFX6	6	116927252	Missense_Mutation	SNP	A	C3L-02350_TP		116927252	53878727	14	9439											
HDAC9	0	.	GRCh38	chr7	18644681	18644681	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttaacagcaaatggtttCacagcaacgcattctaattc	13	14	5	9	1	2	0	1	0	1	0	3	0	2	0	0	1	4	4	0	1	4	7	novel		C3L-02350_TP	C3L-02350_NB	C	C																c.923C>A	p.Ser308Ter	p.S308*	ENST00000441542	8/25	123	108	15	159	159	0	strelka-varscan-mutect	HDAC9,stop_gained,p.Ser305Ter,ENST00000406451,NM_001321897.1,NM_178423.1;HDAC9,stop_gained,p.Ser264Ter,ENST00000622668,NM_001321879.1,NM_001321885.1,NM_001321893.1,NM_001321891.1,NM_001321894.1,NM_001204146.1;HDAC9,stop_gained,p.Ser305Ter,ENST00000405010,NM_001321869.1,NM_001321870.1,NM_001321874.1,NM_001321875.1,NM_001321884.1,NM_001321886.1,NM_001321887.1,NM_001321890.1,NM_001321899.1,NM_001321900.1,NM_001321901.1,NM_001321902.1,NM_014707.1;HDAC9,stop_gained,p.Ser292Ter,ENST00000406072,NM_001321871.1,NM_001321872.1,NM_001321873.1,NM_001321888.1,NM_001321895.1,NM_001321898.1;HDAC9,stop_gained,p.Ser264Ter,ENST00000401921,;HDAC9,stop_gained,p.Ser308Ter,ENST00000441542,NM_178425.2;HDAC9,stop_gained,p.Ser305Ter,ENST00000432645,NM_058176.2;HDAC9,stop_gained,p.Ser303Ter,ENST00000417496,NM_001204144.1;HDAC9,stop_gained,p.Ser261Ter,ENST00000428307,NM_001204145.1;HDAC9,stop_gained,p.Ser277Ter,ENST00000456174,NM_001204148.1;HDAC9,stop_gained,p.Ser228Ter,ENST00000524023,NM_001204147.1;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;	A	ENST00000441542	Transcript	stop_gained	923/3210	923/3210	308/1069	S/*	tCa/tAa		1		1	HDAC9	HGNC	HGNC:14065	protein_coding	YES	CCDS47553.1	ENSP00000408617	Q9UKV0		UPI000019AB75	NM_178425.2			8/25		PIRSF_domain:PIRSF037911																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	33	18644681	18644681	C	A	1	0	0	0	0	0	1	0	0	6901	838	29	2		2	HDAC9	7	18644681	Nonsense_Mutation	SNP	C	C3L-02350_TP		18644681	140701292	15	9440											
ABCB4	0	.	GRCh38	chr7	87439683	87439683	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttatccagagctgccTgtacctcagcttcactttct	7	14	6	14	0	3	2	2	1	1	1	4	2	4	2	4	0	4	3	4	0	2	4	novel		C3L-02350_TP	C3L-02350_NB	T	T																c.1715A>C	p.Gln572Pro	p.Q572P	ENST00000265723	14/28	434	373	61	397	397	0	strelka-varscan-mutect	ABCB4,missense_variant,p.Gln572Pro,ENST00000265723,NM_018849.2;ABCB4,missense_variant,p.Gln572Pro,ENST00000359206,NM_000443.3;ABCB4,missense_variant,p.Gln572Pro,ENST00000358400,NM_018850.2;ABCB4,missense_variant,p.Gln572Pro,ENST00000453593,;	G	ENST00000265723	Transcript	missense_variant	1827/4020	1715/3861	572/1286	Q/P	cAg/cCg		1		-1	ABCB4	HGNC	HGNC:45	protein_coding	YES	CCDS5606.1	ENSP00000265723	P21439		UPI000013D66B	NM_018849.2	deleterious(0)		14/28		Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF241,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	33	87439683	87439683	T	G	1	0	0	0	0	1	0	0	0	47	1580	55	5		5	ABCB4	7	87439683	Missense_Mutation	SNP	T	C3L-02350_TP	68795002	87439683	71906290	16	9441											
GLDC	0	.	GRCh38	chr9	6558659	6558659	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgctgggttggtcccaTgtgctgatttcggaatgagg	6	13	14	8	1	0	2	0	2	0	0	2	3	1	3	1	4	2	3	1	4	1	3	rs386833536		C3L-02350_TP	C3L-02350_NB	T	T																c.1952A>C	p.His651Pro	p.H651P	ENST00000321612	17/25	524	463	61	487	486	1	strelka-varscan-mutect	GLDC,missense_variant,p.His651Pro,ENST00000321612,NM_000170.2;GLDC,non_coding_transcript_exon_variant,,ENST00000460457,;GLDC,upstream_gene_variant,,ENST00000467946,;	G	ENST00000321612	Transcript	missense_variant	2103/3767	1952/3063	651/1020	H/P	cAt/cCt	rs386833536,CM061025	1		-1	GLDC	HGNC	HGNC:4313	protein_coding	YES	CCDS34987.1	ENSP00000370737	P23378		UPI0000684276	NM_000170.2	deleterious(0)		17/25		HAMAP:MF_00711,hmmpanther:PTHR11773,hmmpanther:PTHR11773:SF1,Gene3D:3.40.640.10,Pfam_domain:PF01212,TIGRFAM_domain:TIGR00461,Superfamily_domains:SSF53383										likely_pathogenic		16601880					MODERATE	1	SNV	1		1,1	1										PASS		rs386833536	.												G	3	3	33	6558659	6558659	T	G	1	0	0	0	0	1	0	0	0	6311	1464	51	5		5	GLDC	9	6558659	Missense_Mutation	SNP	T	C3L-02350_TP		6558659	131836058	17	9442											
SPATA31A7	0	.	GRCh38	chr9	61193058	61193058	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttttgctcagctctgatggCcagaatgtcgtggggataca	8	13	12	8	1	2	2	1	1	1	1	3	3	2	3	1	3	3	2	1	3	2	3	novel		C3L-02350_TP	C3L-02350_NB	C	C																c.972C>G	p.=	p.G324G	ENST00000619167	4/4	112	98	14	111	111	0	varscan-mutect	SPATA31A7,synonymous_variant,p.=,ENST00000619167,NM_015667.2;RP11-101E5.6,downstream_gene_variant,,ENST00000611332,;SPATA31A7,intron_variant,,ENST00000621711,;SPATA31A7,downstream_gene_variant,,ENST00000618860,;SPATA31A7,downstream_gene_variant,,ENST00000619140,;SPATA31A7,downstream_gene_variant,,ENST00000622899,;SPATA31A7,downstream_gene_variant,,ENST00000622751,;SPATA31A7,downstream_gene_variant,,ENST00000376458,;SPATA31A7,downstream_gene_variant,,ENST00000614013,;SPATA31A7,downstream_gene_variant,,ENST00000611017,;	G	ENST00000619167	Transcript	synonymous_variant	1034/4256	972/4044	324/1347	G	ggC/ggG		1		1	SPATA31A7	HGNC	HGNC:32007	protein_coding	YES	CCDS75838.1	ENSP00000484807	Q8IWB4		UPI0000457748	NM_015667.2			4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF22																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	33	61193058	61193058	C	G	1	0	0	0	0	0	0	0	1	15346	726	26	4		4	SPATA31A7	9	61193058	Silent	SNP	C	C3L-02350_TP	54634399	61193058	77201659	18	9443											
RNF20	0	.	GRCh38	chr9	101562247	101562248	+	Frame_Shift_Ins	INS	-	-	A																															gacatcttttctttttaggcINSacgcttgacctgtccgtgct																								novel		C3L-02350_TP	C3L-02350_NB	-	-																c.2754dupA	p.Arg919ThrfsTer8	p.R919Tfs*8	ENST00000389120	20/20	50	43	7	68	68	0	sindel-varindel-pindel	RNF20,frameshift_variant,p.Arg919ThrfsTer8,ENST00000389120,NM_019592.6;RNF20,downstream_gene_variant,,ENST00000478072,;	A	ENST00000389120	Transcript	frameshift_variant,splice_region_variant	2843-2844/3940	2753-2754/2928	918/975	A/AX	gca/gcAa		1		1	RNF20	HGNC	HGNC:10062	protein_coding	YES	CCDS35084.1	ENSP00000373772	Q5VTR2		UPI00001CE3B5	NM_019592.6			20/20		Gene3D:3.30.40.10,hmmpanther:PTHR23163,hmmpanther:PTHR23163:SF2,Superfamily_domains:SSF57850																	HIGH	1	insertion	1	1		1										PASS		.	.												A	7	5	33	101562247	101562247	-	A	1	0	1	1	0	0	0	0	0	13651	724	25	0		0	RNF20	9	101562247	Frame_Shift_Ins	INS	-	C3L-02350_TP	40369189	101562247	36832470	19	9444											
PCDH15	0	.	GRCh38	chr10	54195816	54195816	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgtaaaatatggacttTgattgttttcatccagtatt	11	18	7	5	0	1	1	1	1	0	0	2	2	2	2	1	1	0	4	1	1	4	9	rs758680936		C3L-02350_TP	C3L-02350_NB	T	T																c.1187A>T	p.Gln396Leu	p.Q396L	ENST00000373957	12/35	492	416	76	503	503	0	strelka-varscan-mutect	PCDH15,missense_variant,p.Gln396Leu,ENST00000614895,;PCDH15,missense_variant,p.Gln391Leu,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Gln391Leu,ENST00000414778,;PCDH15,missense_variant,p.Gln396Leu,ENST00000617051,;PCDH15,missense_variant,p.Gln396Leu,ENST00000373957,NM_001142763.1;PCDH15,missense_variant,p.Gln391Leu,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,missense_variant,p.Gln391Leu,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Gln369Leu,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Gln354Leu,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Gln391Leu,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Gln391Leu,ENST00000622048,;PCDH15,missense_variant,p.Gln391Leu,ENST00000437009,NM_001142765.1;PCDH15,missense_variant,p.Gln391Leu,ENST00000617271,NM_001142770.1;PCDH15,missense_variant,p.Gln396Leu,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Gln391Leu,ENST00000395445,;PCDH15,missense_variant,p.Gln391Leu,ENST00000616114,;PCDH15,missense_variant,p.Gln391Leu,ENST00000395438,;PCDH15,missense_variant,p.Gln396Leu,ENST00000612394,;PCDH15,missense_variant,p.Gln396Leu,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Gln391Leu,ENST00000373955,;PCDH15,missense_variant,p.Gln391Leu,ENST00000395446,;PCDH15,missense_variant,p.Gln391Leu,ENST00000395440,;PCDH15,5_prime_UTR_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,missense_variant,p.Gln391Leu,ENST00000448885,;PCDH15,missense_variant,p.Gln391Leu,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	A	ENST00000373957	Transcript	missense_variant	1582/7032	1187/5889	396/1962	Q/L	cAa/cTa	rs758680936	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1	tolerated(0.05)		12/35		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF11,hmmpanther:PTHR24028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		rs758680936	.												A	3	1	33	54195816	54195816	T	A	1	0	0	0	0	1	0	0	0	11598	1812	63	4		4	PCDH15	10	54195816	Missense_Mutation	SNP	T	C3L-02350_TP		54195816	79601606	20	9445											
SFTPD	0	.	GRCh38	chr10	79942010	79942010	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagggacacctcgctctcccTtagggcctgcgaggcctctt	5	9	11	16	2	2	0	0	0	2	0	4	2	2	1	4	3	1	1	4	3	1	2	novel		C3L-02350_TP	C3L-02350_NB	T	T																c.494A>T	p.Lys165Met	p.K165M	ENST00000372292	5/8	230	205	25	177	177	0	strelka-varscan-mutect	SFTPD,missense_variant,p.Lys165Met,ENST00000372292,NM_003019.4;SFTPD,missense_variant,p.Lys178Met,ENST00000444384,;MBL1P,intron_variant,,ENST00000421889,;	A	ENST00000372292	Transcript	missense_variant	535/1281	494/1128	165/375	K/M	aAg/aTg		1		-1	SFTPD	HGNC	HGNC:10803	protein_coding	YES	CCDS7362.1	ENSP00000361366	P35247		UPI000013CEE7	NM_003019.4	deleterious(0)		5/8		hmmpanther:PTHR24024:SF15,hmmpanther:PTHR24024,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	33	79942010	79942010	T	A	1	0	0	0	0	1	0	0	0	14453	1609	56	4		4	SFTPD	10	79942010	Missense_Mutation	SNP	T	C3L-02350_TP	25746194	79942010	53855412	21	9446											
TLL2	0	.	GRCh38	chr10	96370311	96370311	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagccttcagcctgcccccGcactctggagcagagagaag	9	6	11	15	1	3	2	2	0	1	2	3	4	3	3	4	1	4	2	4	1	1	1	novel		C3L-02350_TP	C3L-02350_NB	G	G																c.2667C>T	p.=	p.C889C	ENST00000357947	20/21	35	30	5	41	41	0	strelka-varscan-mutect	TLL2,synonymous_variant,p.=,ENST00000357947,NM_012465.3;TLL2,downstream_gene_variant,,ENST00000506028,;	A	ENST00000357947	Transcript	synonymous_variant	2893/6756	2667/3048	889/1015	C	tgC/tgT		1		-1	TLL2	HGNC	HGNC:11844	protein_coding	YES	CCDS7449.1	ENSP00000350630	Q9Y6L7		UPI0000073AEE	NM_012465.3			20/21		PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF638,hmmpanther:PTHR10127,Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001199,SMART_domains:SM00042																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	33	96370311	96370311	G	A	1	0	0	0	0	0	0	0	1	16392	1101	38	1		1	TLL2	10	96370311	Silent	SNP	G	C3L-02350_TP	16428301	96370311	37427111	22	9447											
PHC1	0	.	GRCh38	chr12	8936907	8936907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagtactgtgggaagtacgCccccgcagagcagtttcgtg	8	8	14	11	4	0	1	0	0	0	1	1	3	0	2	2	1	3	5	2	1	3	3	novel		C3L-02350_TP	C3L-02350_NB	C	C																c.2420C>T	p.Ala807Val	p.A807V	ENST00000543824	13/16	261	246	15	226	226	0	varscan-mutect	PHC1,missense_variant,p.Ala762Val,ENST00000433083,;PHC1,missense_variant,p.Ala807Val,ENST00000543824,;PHC1,missense_variant,p.Ala807Val,ENST00000544916,NM_004426.2;PHC1,intron_variant,,ENST00000542346,;M6PR,downstream_gene_variant,,ENST00000000412,NM_002355.3;M6PR,downstream_gene_variant,,ENST00000536844,NM_001207024.1;M6PR,downstream_gene_variant,,ENST00000539143,;M6PR,downstream_gene_variant,,ENST00000543704,;PHC1,downstream_gene_variant,,ENST00000537610,;M6PR,downstream_gene_variant,,ENST00000544193,;PHC1,downstream_gene_variant,,ENST00000433847,;PHC1,downstream_gene_variant,,ENST00000539928,;PHC1,3_prime_UTR_variant,,ENST00000540574,;PHC1,3_prime_UTR_variant,,ENST00000535510,;M6PR,downstream_gene_variant,,ENST00000541507,;PHC1,downstream_gene_variant,,ENST00000540809,;	T	ENST00000543824	Transcript	missense_variant	2752/4292	2420/3015	807/1004	A/V	gCc/gTc		1		1	PHC1	HGNC	HGNC:3182	protein_coding	YES	CCDS8597.1	ENSP00000440674	P78364		UPI000013CD12		tolerated(0.07)		13/16		PROSITE_profiles:PS51024,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	33	8936907	8936907	C	T	1	0	0	0	0	1	0	0	0	11905	739	26	3		3	PHC1	12	8936907	Missense_Mutation	SNP	C	C3L-02350_TP		8936907	124338402	23	9448											
EIF4B	0	.	GRCh38	chr12	53018805	53018805	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctatcctagtttcgacCacttggcacagtaacgatga	10	12	7	12	2	1	1	0	1	1	0	4	3	3	1	3	1	1	3	3	1	3	5	novel		C3L-02350_TP	C3L-02350_NB	C	C																c.159C>A	p.=	p.T53T	ENST00000420463	3/15	294	278	16	242	238	4	varscan-mutect	EIF4B,synonymous_variant,p.=,ENST00000262056,NM_001417.5;EIF4B,synonymous_variant,p.=,ENST00000416762,;EIF4B,synonymous_variant,p.=,ENST00000420463,NM_001300821.1;EIF4B,synonymous_variant,p.=,ENST00000549481,;EIF4B,synonymous_variant,p.=,ENST00000552490,;EIF4B,synonymous_variant,p.=,ENST00000551002,;RP11-983P16.4,non_coding_transcript_exon_variant,,ENST00000549388,;RP11-983P16.4,intron_variant,,ENST00000552905,;RP11-983P16.2,downstream_gene_variant,,ENST00000435621,;EIF4B,non_coding_transcript_exon_variant,,ENST00000551527,;EIF4B,non_coding_transcript_exon_variant,,ENST00000549645,;EIF4B,synonymous_variant,p.=,ENST00000550704,;EIF4B,synonymous_variant,p.=,ENST00000549077,;EIF4B,synonymous_variant,p.=,ENST00000550390,;EIF4B,upstream_gene_variant,,ENST00000550025,;	A	ENST00000420463	Transcript	synonymous_variant	187/1936	159/1851	53/616	T	acC/acA		1		1	EIF4B	HGNC	HGNC:3285	protein_coding	YES	CCDS73474.1	ENSP00000388806		E7EX17	UPI0001AE6B15	NM_001300821.1			3/15		hmmpanther:PTHR23236:SF2,hmmpanther:PTHR23236																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	33	53018805	53018805	C	A	1	0	0	0	0	0	0	0	1	4861	581	21	2		2	EIF4B	12	53018805	Silent	SNP	C	C3L-02350_TP	44081898	53018805	80256504	24	9449											
TESPA1	0	.	GRCh38	chr12	54962714	54962714	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtggatcttctatgggcAgagaatgtgtgcaacagggt	10	11	14	6	0	2	1	0	0	2	1	2	3	2	2	0	3	2	2	0	3	3	2	novel		C3L-02350_TP	C3L-02350_NB	A	A																c.1184T>C	p.Leu395Pro	p.L395P	ENST00000449076	9/11	228	206	22	249	249	0	strelka-varscan-mutect	TESPA1,missense_variant,p.Leu257Pro,ENST00000524622,NM_001261844.1,NM_014796.2;TESPA1,missense_variant,p.Leu395Pro,ENST00000449076,NM_001136030.2;TESPA1,missense_variant,p.Leu257Pro,ENST00000532804,;TESPA1,missense_variant,p.Leu395Pro,ENST00000316577,NM_001098815.2;TESPA1,missense_variant,p.Leu257Pro,ENST00000531122,;TESPA1,intron_variant,,ENST00000532757,;TESPA1,downstream_gene_variant,,ENST00000526532,;TESPA1,upstream_gene_variant,,ENST00000528240,;TESPA1,downstream_gene_variant,,ENST00000533446,;TESPA1,downstream_gene_variant,,ENST00000524959,;TESPA1,3_prime_UTR_variant,,ENST00000524923,;TESPA1,downstream_gene_variant,,ENST00000525978,;	G	ENST00000449076	Transcript	missense_variant	1317/2010	1184/1566	395/521	L/P	cTg/cCg		1		-1	TESPA1	HGNC	HGNC:29109	protein_coding	YES	CCDS44913.1	ENSP00000400892	A2RU30	A0A024RB73	UPI00001FC438	NM_001136030.2	deleterious_low_confidence(0)		9/11		hmmpanther:PTHR17469																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	33	54962714	54962714	A	G	1	0	0	0	0	1	0	0	0	16189	188	7	5		5	TESPA1	12	54962714	Missense_Mutation	SNP	A	C3L-02350_TP	1943909	54962714	78312595	25	9450											
METTL25	0	.	GRCh38	chr12	82434705	82434705	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctttaaggcattggagcGggttgcagctggccaagggg	7	9	16	9	1	0	0	0	0	0	0	1	1	1	1	2	6	3	4	2	6	2	4	rs867620589		C3L-02350_TP	C3L-02350_NB	G	G																c.1385G>C	p.Arg462Pro	p.R462P	ENST00000248306	7/12	234	212	22	258	257	1	strelka-varscan-mutect	METTL25,missense_variant,p.Arg462Pro,ENST00000248306,NM_032230.2;METTL25,missense_variant,p.Arg97Pro,ENST00000550298,;METTL25,non_coding_transcript_exon_variant,,ENST00000547357,;METTL25,upstream_gene_variant,,ENST00000548432,;	C	ENST00000248306	Transcript	missense_variant	1454/2093	1385/1812	462/603	R/P	cGg/cCg	rs867620589,COSM4389323	1		1	METTL25	HGNC	HGNC:26228	protein_coding	YES	CCDS9024.1	ENSP00000248306	Q8N6Q8		UPI000013CC3E	NM_032230.2	deleterious(0)		7/12		hmmpanther:PTHR12496,hmmpanther:PTHR12496:SF0											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs867620589	.												C	3	2	33	82434705	82434705	G	C	1	0	0	0	0	1	0	0	0	9451	1116	39	4		4	METTL25	12	82434705	Missense_Mutation	SNP	G	C3L-02350_TP	27471991	82434705	50840604	26	9451											
ATP2A2	0	.	GRCh38	chr12	110282761	110282761	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagtttgaagacttgctagTtaggattttattactggcag	10	15	11	5	0	0	2	0	1	0	1	0	3	0	3	0	2	2	5	0	2	5	7	novel		C3L-02350_TP	C3L-02350_NB	T	T																c.185T>G	p.Val62Gly	p.V62G	ENST00000539276	3/20	424	400	24	516	516	0	strelka-varscan-mutect	ATP2A2,missense_variant,p.Val62Gly,ENST00000308664,NM_001681.3;ATP2A2,missense_variant,p.Val62Gly,ENST00000539276,NM_170665.3;ATP2A2,5_prime_UTR_variant,,ENST00000552636,;ATP2A2,3_prime_UTR_variant,,ENST00000377685,;	G	ENST00000539276	Transcript	missense_variant	294/4094	185/3129	62/1042	V/G	gTt/gGt		1		1	ATP2A2	HGNC	HGNC:812	protein_coding	YES	CCDS9144.1	ENSP00000440045	P16615	A0A0S2Z3L2	UPI0000001C3A	NM_170665.3	deleterious(0)		3/20		Superfamily_domains:0049473,Gene3D:1.20.1110.10,Pfam_domain:PF00690,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF234,SMART_domains:SM00831,TIGRFAM_domain:TIGR01116,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	33	110282761	110282761	T	G	1	0	0	0	0	1	0	0	0	1290	1725	60	5		5	ATP2A2	12	110282761	Missense_Mutation	SNP	T	C3L-02350_TP	27848056	110282761	22992548	27	9452											
PARP4	0	.	GRCh38	chr13	24441948	24441948	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacttttggaatatcaggAaaaggcgactcattctcatc	14	11	8	8	1	3	0	3	0	1	0	5	4	3	2	0	3	1	0	0	3	5	4	rs113538547		C3L-02350_TP	C3L-02350_NB	A	A																c.3564T>C	p.=	p.F1188F	ENST00000381989	30/34	107	101	6	120	119	1	varscan-mutect	PARP4,synonymous_variant,p.=,ENST00000381989,NM_006437.3;TPTE2P6,intron_variant,,ENST00000445572,;	G	ENST00000381989	Transcript	synonymous_variant	3670/5474	3564/5175	1188/1724	F	ttT/ttC	rs113538547	1		-1	PARP4	HGNC	HGNC:271	protein_coding	YES	CCDS9307.1	ENSP00000371419	Q9UKK3		UPI000013C76E	NM_006437.3			30/34		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF112																	LOW	1	SNV	1			1										PASS		rs113538547	.												G	2	3	33	24441948	24441948	A	G	1	0	0	0	0	0	0	0	1	11543	243	9	5		5	PARP4	13	24441948	Silent	SNP	A	C3L-02350_TP		24441948	89922380	28	9453											
SPERT	0	.	GRCh38	chr13	45714336	45714336	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacgccttcatgccggcCaggagccaggaccccaagaa	10	5	10	16	2	2	1	1	0	1	1	2	3	2	3	6	3	3	0	6	3	3	2	novel		C3L-02350_TP	C3L-02350_NB	C	C																c.1311C>A	p.=	p.A437A	ENST00000310521	3/3	69	58	11	74	74	0	strelka-varscan-mutect	SPERT,synonymous_variant,p.=,ENST00000378966,;SPERT,synonymous_variant,p.=,ENST00000310521,NM_152719.2;SPERT,synonymous_variant,p.=,ENST00000610924,NM_001286342.1;SPERT,downstream_gene_variant,,ENST00000533564,;	A	ENST00000310521	Transcript	synonymous_variant	1391/1613	1311/1347	437/448	A	gcC/gcA		1		1	SPERT	HGNC	HGNC:30720	protein_coding	YES	CCDS9399.1	ENSP00000309189	Q8NA61	A0A140VJV5	UPI0000070F5F	NM_152719.2			3/3		hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF13																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	33	45714336	45714336	C	A	1	0	0	0	0	0	0	0	1	15390	581	21	2		2	SPERT	13	45714336	Silent	SNP	C	C3L-02350_TP	21272388	45714336	68649992	29	9454											
CDH1	0	.	GRCh38	chr16	68829655	68829655	+	Frame_Shift_Del	DEL	A	A	-																															caaccttttttctccaaaggActttgacttgagccagctgc																								novel		C3L-02350_TP	C3L-02350_NB	A	A																c.2297delA	p.Asp766AlafsTer4	p.D766Afs*4	ENST00000261769	15/16	318	289	29	288	286	2	varindel-pindel	CDH1,frameshift_variant,p.Asp766AlafsTer4,ENST00000261769,NM_004360.3;CDH1,frameshift_variant,p.Asp787AlafsTer4,ENST00000611625,NM_001317185.1;CDH1,frameshift_variant,p.Asp705AlafsTer4,ENST00000422392,;CDH1,intron_variant,,ENST00000621016,;CDH1,intron_variant,,ENST00000612417,;CDH1,splice_region_variant,,ENST00000562836,;CDH1,splice_region_variant,,ENST00000566612,;CDH1,splice_region_variant,,ENST00000566510,;CDH1,splice_region_variant,,ENST00000562118,;	-	ENST00000261769	Transcript	frameshift_variant,splice_region_variant	2488/4889	2297/2649	766/882	D/X	gAc/gc		1		1	CDH1	HGNC	HGNC:1748	protein_coding	YES	CCDS10869.1	ENSP00000261769	P12830	A0A0U2ZQU7	UPI00000341EF	NM_004360.3			15/16		Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF267,Low_complexity_(Seg):seg																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	33	68829655	68829655	A	-	1	0	1	0	1	0	0	0	0	2798	289	10	0		0	CDH1	16	68829655	Frame_Shift_Del	DEL	A	C3L-02350_TP		68829655	21508690	30	9455											
SLC46A1	0	.	GRCh38	chr17	28405016	28405016	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtctcaccaaagcagaaAgctgcatagagagtcatggc	15	6	11	9	0	2	2	2	0	1	2	3	3	2	2	1	2	3	3	1	2	4	1	novel		C3L-02350_TP	C3L-02350_NB	A	A																c.681T>G	p.=	p.A227A	ENST00000612814	2/5	317	280	37	289	289	0	strelka-varscan-mutect	SLC46A1,synonymous_variant,p.=,ENST00000612814,NM_080669.5;SLC46A1,synonymous_variant,p.=,ENST00000618626,NM_001242366.2;SLC46A1,synonymous_variant,p.=,ENST00000584995,;SARM1,downstream_gene_variant,,ENST00000585482,NM_015077.3;SLC46A1,downstream_gene_variant,,ENST00000581516,;SLC46A1,upstream_gene_variant,,ENST00000582735,;SLC46A1,downstream_gene_variant,,ENST00000584426,;CTD-2350C19.2,upstream_gene_variant,,ENST00000580714,;SLC46A1,intron_variant,,ENST00000578217,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000582590,;SLC46A1,upstream_gene_variant,,ENST00000619923,;	C	ENST00000612814	Transcript	synonymous_variant	777/6376	681/1380	227/459	A	gcT/gcG		1		-1	SLC46A1	HGNC	HGNC:30521	protein_coding	YES	CCDS74020.1	ENSP00000480703	Q96NT5	A0A024QZ15	UPI0000050394	NM_080669.5			2/5		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR23507,hmmpanther:PTHR23507:SF2,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	LOW		SNV	2			1										PASS		.	.												C	2	2	33	28405016	28405016	A	C	1	0	0	0	0	0	0	0	1	14921	59	3	5		5	SLC46A1	17	28405016	Silent	SNP	A	C3L-02350_TP		28405016	54852425	31	9456											
TBC1D29	0	.	GRCh38	chr17	30560649	30560649	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaccccgtgcctgtgggaTatgtatttgctggaagggga	7	11	14	9	1	1	0	1	0	0	0	1	3	1	3	3	4	2	2	3	4	3	3	rs78888987		C3L-02350_TP	C3L-02350_NB	T	T																c.111T>C	p.=	p.D37D	ENST00000580161	4/6	118	110	8	113	112	1	varscan-mutect	TBC1D29,synonymous_variant,p.=,ENST00000580161,;TBC1D29,synonymous_variant,p.=,ENST00000579181,NM_015594.2;TBC1D29,synonymous_variant,p.=,ENST00000584297,;RP11-218M11.1,downstream_gene_variant,,ENST00000563063,;RP11-218M11.6,upstream_gene_variant,,ENST00000582125,;TBC1D29,non_coding_transcript_exon_variant,,ENST00000582511,;RP11-271K11.1,downstream_gene_variant,,ENST00000578471,;	C	ENST00000580161	Transcript	synonymous_variant	2608/3018	111/453	37/150	D	gaT/gaC	rs78888987	1		1	TBC1D29	HGNC	HGNC:24509	protein_coding	YES	CCDS32606.1	ENSP00000462799	Q9UFV1		UPI00000702F8				4/6		PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF242,hmmpanther:PTHR22957,Superfamily_domains:SSF47923																	LOW	1	SNV	1			1										PASS		rs78888987	.												C	2	2	33	30560649	30560649	T	C	1	0	0	0	0	0	0	0	1	16018	1403	49	5		5	TBC1D29	17	30560649	Silent	SNP	T	C3L-02350_TP	2155633	30560649	52696792	32	9457											
ERBB2	0	.	GRCh38	chr17	39724728	39724729	+	In_Frame_Ins	INS	-	-	GCATACGTGATG																															cgtacccttgtccccaggaaINSgcatacgtgatggctggtgt																								novel		C3L-02350_TP	C3L-02350_NB	-	-																c.2313_2324dupATACGTGATGGC	p.Tyr772_Ala775dup	p.Y772_A775dup	ENST00000269571	20/27	86	66	20	80	80	0	sindel-varindel	ERBB2,inframe_insertion,p.Tyr742_Ala745dup,ENST00000584601,NM_001005862.2;ERBB2,inframe_insertion,p.Tyr742_Ala745dup,ENST00000406381,;ERBB2,inframe_insertion,p.Tyr772_Ala775dup,ENST00000269571,NM_004448.3;ERBB2,inframe_insertion,p.Tyr757_Ala760dup,ENST00000541774,NM_001289936.1;ERBB2,inframe_insertion,p.Tyr772_Ala775dup,ENST00000584450,NM_001289937.1;ERBB2,inframe_insertion,p.Tyr496_Ala499dup,ENST00000445658,;ERBB2,inframe_insertion,p.Tyr141_Ala144dup,ENST00000580074,;MIEN1,downstream_gene_variant,,ENST00000394231,NM_032339.3;MIEN1,downstream_gene_variant,,ENST00000577810,;ERBB2,downstream_gene_variant,,ENST00000582818,;MIR4728,upstream_gene_variant,,ENST00000580969,;MIEN1,downstream_gene_variant,,ENST00000474210,;ERBB2,upstream_gene_variant,,ENST00000584888,;ERBB2,3_prime_UTR_variant,,ENST00000578373,;ERBB2,non_coding_transcript_exon_variant,,ENST00000583038,;MIEN1,downstream_gene_variant,,ENST00000582963,;MIEN1,downstream_gene_variant,,ENST00000498164,;ERBB2,downstream_gene_variant,,ENST00000578630,;MIEN1,downstream_gene_variant,,ENST00000469568,;ERBB2,downstream_gene_variant,,ENST00000584684,;	GCATACGTGATG	ENST00000269571	Transcript	inframe_insertion	2469-2470/4545	2310-2311/3768	770-771/1255	-/AYVM	-/GCATACGTGATG		1		1	ERBB2	HGNC	HGNC:3430	protein_coding	YES	CCDS32642.1	ENSP00000269571	P04626	X5DNK3	UPI000003F55F	NM_004448.3			20/27		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF137,hmmpanther:PTHR24416,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	insertion	1	14		1										PASS		.	.												GCATACGTGATG	7	5	33	39724728	39724728	-	GCATACGTGATG	1	0	1	1	0	0	0	0	0	5055	86	3	0		0	ERBB2	17	39724728	In_Frame_Ins	INS	-	C3L-02350_TP	9164079	39724728	43532713	33	9458											
PLCD3	0	.	GRCh38	chr17	45121335	45121335	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcttgcggagccgggagccCcgcagcatggcgcgcacgtc	6	5	15	15	6	1	0	0	0	1	0	2	2	1	2	3	3	4	3	3	3	0	1	novel		C3L-02350_TP	C3L-02350_NB	C	C																c.201G>A	p.=	p.R67R	ENST00000619929	2/15	90	76	14	84	84	0	strelka-mutect	PLCD3,synonymous_variant,p.=,ENST00000619929,NM_133373.4;PLCD3,synonymous_variant,p.=,ENST00000590644,;PLCD3,synonymous_variant,p.=,ENST00000538093,;PLCD3,non_coding_transcript_exon_variant,,ENST00000544446,;PLCD3,upstream_gene_variant,,ENST00000611986,;PLCD3,upstream_gene_variant,,ENST00000538988,;PLCD3,upstream_gene_variant,,ENST00000546350,;PLCD3,upstream_gene_variant,,ENST00000542173,;	T	ENST00000619929	Transcript	synonymous_variant	289/6107	201/2370	67/789	R	cgG/cgA		1		-1	PLCD3	HGNC	HGNC:9061	protein_coding	YES	CCDS74077.1	ENSP00000479636	Q8N3E9		UPI0000070705	NM_133373.4			2/15		Gene3D:2.30.29.30,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF33,SMART_domains:SM00233,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		rs957805236	.												T	2	4	33	45121335	45121335	C	T	1	0	0	0	0	0	0	0	1	12126	610	22	3		3	PLCD3	17	45121335	Silent	SNP	C	C3L-02350_TP	5396607	45121335	38136106	34	9459											
PPM1E	0	.	GRCh38	chr17	58980798	58980798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accactactcaaagaagtggCacagattcaggtttaatcca	15	9	7	10	0	2	2	2	0	0	2	3	2	3	2	2	2	1	2	2	2	4	4	rs764019992		C3L-02350_TP	C3L-02350_NB	C	C																c.2035C>T	p.His679Tyr	p.H679Y	ENST00000308249	7/7	194	168	26	214	214	0	strelka-varscan-mutect	PPM1E,missense_variant,p.His679Tyr,ENST00000308249,NM_014906.4;TRIM37,downstream_gene_variant,,ENST00000393066,NM_001005207.2;TRIM37,downstream_gene_variant,,ENST00000585287,;TRIM37,downstream_gene_variant,,ENST00000583945,;	T	ENST00000308249	Transcript	missense_variant	2164/6542	2035/2268	679/755	H/Y	Cac/Tac	rs764019992,COSM3196121	1		1	PPM1E	HGNC	HGNC:19322	protein_coding	YES	CCDS11613.1	ENSP00000312411	Q8WY54		UPI000013ECF6	NM_014906.4	deleterious_low_confidence(0.01)		7/7													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs764019992	.												T	3	4	33	58980798	58980798	C	T	1	0	0	0	0	1	0	0	0	12448	710	25	3		3	PPM1E	17	58980798	Missense_Mutation	SNP	C	C3L-02350_TP	13859463	58980798	24276643	35	9460											
FASN	0	.	GRCh38	chr17	82091566	82091566	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacgttgccgccacggAcgggcaggggctggtccacc	5	5	15	16	4	0	0	0	0	0	0	1	1	1	1	5	5	2	3	5	5	0	1	novel		C3L-02350_TP	C3L-02350_NB	A	A																c.1148T>C	p.Val383Ala	p.V383A	ENST00000306749	9/43	460	417	43	327	326	1	strelka-varscan-mutect	FASN,missense_variant,p.Val383Ala,ENST00000306749,NM_004104.4;FASN,missense_variant,p.Val383Ala,ENST00000634990,;FASN,downstream_gene_variant,,ENST00000635197,;FASN,downstream_gene_variant,,ENST00000636968,;FASN,downstream_gene_variant,,ENST00000637026,;FASN,downstream_gene_variant,,ENST00000637525,;FASN,downstream_gene_variant,,ENST00000635733,;	G	ENST00000306749	Transcript	missense_variant	1367/8565	1148/7536	383/2511	V/A	gTc/gCc		1		-1	FASN	HGNC	HGNC:3594	protein_coding	YES	CCDS11801.1	ENSP00000304592	P49327		UPI000013EB82	NM_004104.4	tolerated(0.07)		9/43		Gene3D:3.40.47.10,Pfam_domain:PF16197,hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF280,SMART_domains:SM00825																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	33	82091566	82091566	A	G	1	0	0	0	0	1	0	0	0	5543	275	10	5		5	FASN	17	82091566	Missense_Mutation	SNP	A	C3L-02350_TP	23110768	82091566	1165875	36	9461											
MBD1	0	.	GRCh38	chr18	50275715	50275715	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctgacagccccggcatactCcacaccctcggctctgttgg	6	9	9	17	2	2	1	0	1	2	0	4	1	3	1	4	3	2	3	4	3	1	2	novel		C3L-02350_TP	C3L-02350_NB	C	C																c.677G>C	p.Gly226Ala	p.G226A	ENST00000590208	8/16	188	161	27	251	251	0	strelka-varscan-mutect	MBD1,missense_variant,p.Gly226Ala,ENST00000591416,;MBD1,missense_variant,p.Gly226Ala,ENST00000269468,NM_015846.3;MBD1,missense_variant,p.Gly226Ala,ENST00000347968,NM_015844.2;MBD1,missense_variant,p.Gly226Ala,ENST00000269471,NM_015845.3;MBD1,missense_variant,p.Gly226Ala,ENST00000339998,NM_001204142.1;MBD1,missense_variant,p.Gly226Ala,ENST00000590208,NM_001204136.1;MBD1,missense_variant,p.Gly177Ala,ENST00000353909,NM_015847.3;MBD1,missense_variant,p.Gly177Ala,ENST00000585672,NM_001204141.1;MBD1,missense_variant,p.Gly226Ala,ENST00000457839,NM_001204137.1,NM_001204138.1;MBD1,missense_variant,p.Gly226Ala,ENST00000382948,NM_001204139.1;MBD1,missense_variant,p.Gly226Ala,ENST00000585595,;MBD1,missense_variant,p.Gly226Ala,ENST00000398495,NM_001204140.1;MBD1,missense_variant,p.Gly102Ala,ENST00000592060,;MBD1,missense_variant,p.Gly226Ala,ENST00000587605,NM_001204143.1;MBD1,missense_variant,p.Gly226Ala,ENST00000398493,;MBD1,missense_variant,p.Gly226Ala,ENST00000588937,;MBD1,missense_variant,p.Gly226Ala,ENST00000591535,NM_001204151.1;MBD1,missense_variant,p.Gly226Ala,ENST00000398488,NM_002384.2;MBD1,missense_variant,p.Gly94Ala,ENST00000589733,;MBD1,upstream_gene_variant,,ENST00000589541,;MBD1,non_coding_transcript_exon_variant,,ENST00000586118,;MBD1,non_coding_transcript_exon_variant,,ENST00000586679,;MBD1,non_coding_transcript_exon_variant,,ENST00000591661,;MBD1,downstream_gene_variant,,ENST00000590215,;MBD1,downstream_gene_variant,,ENST00000589867,;MBD1,upstream_gene_variant,,ENST00000586884,;MBD1,downstream_gene_variant,,ENST00000589758,;	G	ENST00000590208	Transcript	missense_variant	1024/2913	677/1968	226/655	G/A	gGa/gCa		1		-1	MBD1	HGNC	HGNC:6916	protein_coding	YES	CCDS59320.1	ENSP00000468785	Q9UIS9		UPI0001F995B6	NM_001204136.1	deleterious(0)		8/16		Pfam_domain:PF02008,PROSITE_profiles:PS51058,hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	33	50275715	50275715	C	G	1	0	0	0	0	1	0	0	0	9271	855	30	4		4	MBD1	18	50275715	Missense_Mutation	SNP	C	C3L-02350_TP		50275715	30097570	37	9462											
RYR1	0	.	GRCh38	chr19	38561401	38561401	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgtcacgccgcatcgagCgcatctacttcgagatctca	8	8	10	15	7	3	1	2	0	2	1	6	3	3	1	1	0	2	2	1	0	1	2			C3L-02350_TP	C3L-02350_NB	C	C																c.12571C>A	p.Arg4191Ser	p.R4191S	ENST00000359596	90/106	175	166	9	161	161	0	strelka-varscan-mutect	RYR1,missense_variant,p.Arg4186Ser,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Arg4191Ser,ENST00000359596,NM_000540.2;RYR1,3_prime_UTR_variant,,ENST00000594335,;	A	ENST00000359596	Transcript	missense_variant	12571/15117	12571/15117	4191/5038	R/S	Cgc/Agc	COSM5519658	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2	deleterious(0)		90/106		hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	33	38561401	38561401	C	A	1	0	0	0	0	1	0	0	0	14028	768	27	1		1	RYR1	19	38561401	Missense_Mutation	SNP	C	C3L-02350_TP		38561401	20056215	38	9463											
RSPH6A	0	.	GRCh38	chr19	45815053	45815053	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaggtatctgctgcctctCctcggggtccgctgccaggg	3	10	15	13	2	2	0	0	0	2	0	5	1	3	1	4	5	3	3	4	5	1	1	rs779379990		C3L-02350_TP	C3L-02350_NB	C	C																c.124G>T	p.Glu42Ter	p.E42*	ENST00000221538	1/6	467	407	60	392	392	0	strelka-varscan-mutect	RSPH6A,stop_gained,p.Glu42Ter,ENST00000221538,NM_030785.3;RSPH6A,stop_gained,p.Glu42Ter,ENST00000597055,;SYMPK,downstream_gene_variant,,ENST00000599814,;SYMPK,downstream_gene_variant,,ENST00000599460,;SYMPK,downstream_gene_variant,,ENST00000245934,NM_004819.2;RSPH6A,upstream_gene_variant,,ENST00000600188,;SYMPK,downstream_gene_variant,,ENST00000598155,;SYMPK,downstream_gene_variant,,ENST00000600237,;SYMPK,downstream_gene_variant,,ENST00000593504,;SYMPK,downstream_gene_variant,,ENST00000598329,;SYMPK,downstream_gene_variant,,ENST00000598364,;SYMPK,downstream_gene_variant,,ENST00000596824,;	A	ENST00000221538	Transcript	stop_gained	267/2456	124/2154	42/717	E/*	Gag/Tag	rs779379990	1		-1	RSPH6A	HGNC	HGNC:14241	protein_coding	YES	CCDS12675.1	ENSP00000221538	Q9H0K4		UPI0000037C58	NM_030785.3			1/6																			HIGH	1	SNV	1			1										PASS		rs779379990	.												A	4	1	33	45815053	45815053	C	A	1	0	0	0	0	0	1	0	0	13965	864	30	2		2	RSPH6A	19	45815053	Nonsense_Mutation	SNP	C	C3L-02350_TP	7253652	45815053	12802563	39	9464											
ZNF784	0	.	GRCh38	chr19	55624521	55624525	+	Frame_Shift_Del	DEL	GGTGA	GGTGA	-																															gggatcgcgactccggagtcGgtgagctccgactctgggcc																								novel		C3L-02350_TP	C3L-02350_NB	GGTGA	GGTGA																c.37_41delTCACC	p.Ser13AspfsTer17	p.S13Dfs*17	ENST00000325351	1/2	128	119	9	112	112	0	sindel-varindel-pindel	ZNF784,frameshift_variant,p.Ser13AspfsTer17,ENST00000325351,NM_203374.1;ZNF784,frameshift_variant,p.Ser13AspfsTer47,ENST00000591479,;	-	ENST00000325351	Transcript	frameshift_variant	77-81/2021	37-41/972	13-14/323	SP/X	TCACCg/g		1		-1	ZNF784	HGNC	HGNC:33111	protein_coding	YES	CCDS12930.1	ENSP00000320096	Q8NCA9		UPI000006D6D0	NM_203374.1			1/2																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	33	55624521	55624521	GGTGA	-	1	0	1	0	1	0	0	0	0	18740	1116	39	0		0	ZNF784	19	55624521	Frame_Shift_Del	DEL	GGTGA	C3L-02350_TP	9809468	55624521	2993095	40	9465											
ZNF543	0	.	GRCh38	chr19	57323768	57323768	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccagagaaccttgtatcaGgaggtgatgctggagacctg	10	8	14	9	0	1	3	1	1	0	2	1	6	1	4	3	3	2	2	3	3	2	2	novel		C3L-02350_TP	C3L-02350_NB	G	G																c.105G>A	p.=	p.Q35Q	ENST00000321545	2/4	192	169	23	155	155	0	strelka-varscan-mutect	ZNF543,synonymous_variant,p.=,ENST00000321545,NM_213598.3;	A	ENST00000321545	Transcript	synonymous_variant	450/3659	105/1803	35/600	Q	caG/caA		1		1	ZNF543	HGNC	HGNC:25281	protein_coding	YES	CCDS33130.1	ENSP00000322545	Q08ER8		UPI00001D8197	NM_213598.3			2/4		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,SMART_domains:SM00349																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	33	57323768	57323768	G	A	1	0	0	0	0	0	0	0	1	18550	991	35	3		3	ZNF543	19	57323768	Silent	SNP	G	C3L-02350_TP	1699247	57323768	1293848	41	9466											
EMILIN3	0	.	GRCh38	chr20	41362339	41362339	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggccggggcaccggggccCctttgggtctcggtgactgc	2	7	17	15	4	1	1	0	1	1	0	2	1	1	1	5	7	1	1	5	7	0	1			C3L-02350_TP	C3L-02350_NB	C	C																c.1230G>A	p.=	p.R410R	ENST00000332312	4/4	117	102	15	125	125	0	strelka-varscan-mutect	EMILIN3,synonymous_variant,p.=,ENST00000332312,NM_052846.1;LPIN3,downstream_gene_variant,,ENST00000373257,;LPIN3,downstream_gene_variant,,ENST00000632009,NM_001301860.1;LPIN3,downstream_gene_variant,,ENST00000445975,;LPIN3,downstream_gene_variant,,ENST00000491528,;LPIN3,downstream_gene_variant,,ENST00000496565,;	T	ENST00000332312	Transcript	synonymous_variant	1423/3796	1230/2301	410/766	R	agG/agA	COSM5071757	1		-1	EMILIN3	HGNC	HGNC:16123	protein_coding	YES	CCDS13316.1	ENSP00000332806	Q9NT22		UPI00001D82E8	NM_052846.1			4/4		hmmpanther:PTHR15427:SF2,hmmpanther:PTHR15427											1						LOW	1	SNV	1		1	1										PASS		rs1442820571	.												T	2	4	33	41362339	41362339	C	T	1	0	0	0	0	0	0	0	1	4938	622	22	3		3	EMILIN3	20	41362339	Silent	SNP	C	C3L-02350_TP		41362339	23081828	42	9467											
ZNF335	0	.	GRCh38	chr20	45957586	45957586	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttcccaggcagctcacCtgcagggctgtgccccccag	6	6	12	17	0	1	0	1	0	0	0	2	0	2	0	5	3	3	5	5	3	0	1	novel		C3L-02350_TP	C3L-02350_NB	C	C																c.2442G>C	p.Gln814His	p.Q814H	ENST00000322927	17/28	271	172	99	186	186	0	strelka-varscan-mutect	ZNF335,missense_variant,p.Gln814His,ENST00000322927,NM_022095.3;ZNF335,downstream_gene_variant,,ENST00000475002,;	G	ENST00000322927	Transcript	missense_variant,splice_region_variant	2543/4430	2442/4029	814/1342	Q/H	caG/caC		1		-1	ZNF335	HGNC	HGNC:15807	protein_coding	YES	CCDS13389.1	ENSP00000325326	Q9H4Z2		UPI0000001BC3	NM_022095.3	deleterious(0)		17/28																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	33	45957586	45957586	C	G	1	0	0	0	0	1	0	0	0	18424	695	24	4		4	ZNF335	20	45957586	Missense_Mutation	SNP	C	C3L-02350_TP	4595247	45957586	18486581	43	9468			1	8		2	2	55	C		8.917224e-05
ZNF335	0	.	GRCh38	chr20	45957640	45957640	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgttcagcagaagatcCaaggctgtctgcgtggccat	9	10	11	11	1	3	2	2	0	1	2	4	2	4	2	2	2	2	3	2	2	2	1	novel		C3L-02350_TP	C3L-02350_NB	C	C																c.2388G>C	p.Leu796Phe	p.L796F	ENST00000322927	17/28	383	234	149	286	286	0	strelka-varscan-mutect	ZNF335,missense_variant,p.Leu796Phe,ENST00000322927,NM_022095.3;ZNF335,downstream_gene_variant,,ENST00000475002,;	G	ENST00000322927	Transcript	missense_variant	2489/4430	2388/4029	796/1342	L/F	ttG/ttC		1		-1	ZNF335	HGNC	HGNC:15807	protein_coding	YES	CCDS13389.1	ENSP00000325326	Q9H4Z2		UPI0000001BC3	NM_022095.3	deleterious(0.01)		17/28																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	33	45957640	45957640	C	G	1	0	0	0	0	1	0	0	0	18424	593	21	4		4	ZNF335	20	45957640	Missense_Mutation	SNP	C	C3L-02350_TP	54	45957640	18486527	44	9469			1	8		2	2	55	C		8.917224e-05
SS18L1	0	.	GRCh38	chr20	62161460	62161460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacgcagaacatgaacctgGgccctggagccctgactcag	10	5	11	15	1	1	3	1	2	0	1	1	4	1	4	4	2	3	1	4	2	2	0	novel		C3L-02350_TP	C3L-02350_NB	G	G																c.256G>A	p.Gly86Ser	p.G86S	ENST00000331758	4/11	407	330	77	289	288	1	strelka-varscan-mutect	SS18L1,missense_variant,p.Gly86Ser,ENST00000331758,NM_198935.2;SS18L1,missense_variant,p.Gly4Ser,ENST00000370848,NM_001301778.1;SS18L1,missense_variant,p.Gly89Ser,ENST00000450482,;SS18L1,upstream_gene_variant,,ENST00000491916,;SS18L1,upstream_gene_variant,,ENST00000492466,;	A	ENST00000331758	Transcript	missense_variant	282/4493	256/1191	86/396	G/S	Ggc/Agc		1		1	SS18L1	HGNC	HGNC:15592	protein_coding	YES	CCDS13491.1	ENSP00000333012	O75177		UPI000013543D	NM_198935.2	deleterious_low_confidence(0.03)		4/11		hmmpanther:PTHR23107,hmmpanther:PTHR23107:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	33	62161460	62161460	G	A	1	0	0	0	0	1	0	0	0	15550	1232	43	3		3	SS18L1	20	62161460	Missense_Mutation	SNP	G	C3L-02350_TP	16203820	62161460	2282707	45	9470											
TCEAL3	0	.	GRCh38	chrX	103609640	103609640	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggaggtaggggccagagGggcttacacgatatcccata	10	7	16	8	1	0	1	0	0	0	1	1	3	1	2	2	7	1	2	2	7	4	4	rs75427253		C3L-02350_TP	C3L-02350_NB	G	G																c.576G>A	p.=	p.R192R	ENST00000372628	3/3	62	56	6	107	106	1	varscan-mutect	TCEAL3,synonymous_variant,p.=,ENST00000372628,;TCEAL3,synonymous_variant,p.=,ENST00000243286,NM_001006933.1;TCEAL3,synonymous_variant,p.=,ENST00000372627,NM_032926.2;TCEAL3,intron_variant,,ENST00000477014,;	A	ENST00000372628	Transcript	synonymous_variant	934/1221	576/603	192/200	R	agG/agA	rs75427253	1		1	TCEAL3	HGNC	HGNC:28247	protein_coding	YES	CCDS14511.1	ENSP00000361711	Q969E4		UPI0000071CE7				3/3		hmmpanther:PTHR14754,hmmpanther:PTHR14754:SF17,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs75427253	.												A	2	1	33	103609640	103609640	G	A	1	0	0	0	0	0	0	0	1	16079	1223	43	3		3	TCEAL3	23	103609640	Silent	SNP	G	C3L-02350_TP		103609640	52431255	46	9471											
ALG13	0	.	GRCh38	chrX	111718190	111718190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcgattaaattgtttcGaagtggttctaagaagaaca	14	12	10	5	2	1	2	0	0	1	2	2	5	1	2	0	1	2	2	0	1	6	5	novel		C3L-02350_TP	C3L-02350_NB	G	G																c.1166G>T	p.Arg389Leu	p.R389L	ENST00000394780	10/27	110	86	24	131	130	1	strelka-varscan-mutect	ALG13,missense_variant,p.Arg311Leu,ENST00000610588,NM_001257231.1;ALG13,missense_variant,p.Arg389Leu,ENST00000394780,NM_001099922.2;ALG13,missense_variant,p.Arg285Leu,ENST00000251943,NM_001324292.1,NM_001257237.1;ALG13,missense_variant,p.Arg285Leu,ENST00000621367,NM_001257230.1,NM_001257234.1;ALG13,missense_variant,p.Arg285Leu,ENST00000436609,;ALG13,missense_variant,p.Arg43Leu,ENST00000623622,;ALG13,upstream_gene_variant,,ENST00000490774,;ALG13,downstream_gene_variant,,ENST00000635768,;ALG13,3_prime_UTR_variant,,ENST00000624161,;ALG13,3_prime_UTR_variant,,ENST00000623144,;ALG13,3_prime_UTR_variant,,ENST00000623148,;ALG13,3_prime_UTR_variant,,ENST00000636363,;ALG13,3_prime_UTR_variant,,ENST00000495283,;ALG13,intron_variant,,ENST00000470971,;ALG13,downstream_gene_variant,,ENST00000487141,;ALG13,downstream_gene_variant,,ENST00000622997,;	T	ENST00000394780	Transcript	missense_variant	1235/4133	1166/3414	389/1137	R/L	cGa/cTa		1		1	ALG13	HGNC	HGNC:30881	protein_coding	YES	CCDS55477.1	ENSP00000378260	Q9NP73		UPI0000E5AFF9	NM_001099922.2	deleterious(0.01)		10/27		hmmpanther:PTHR12867,hmmpanther:PTHR12867:SF5																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	33	111718190	111718190	G	T	1	0	0	0	0	1	0	0	0	615	1058	37	1		1	ALG13	23	111718190	Missense_Mutation	SNP	G	C3L-02350_TP	8108550	111718190	44322705	47	9472											
PLS3	0	.	GRCh38	chrX	115646454	115646454	+	Frame_Shift_Del	DEL	C	C	-																															gaagcatcctgctaaattctCcctggttggcattggagggc																								novel		C3L-02350_TP	C3L-02350_NB	C	C																c.1432delC	p.Leu478TrpfsTer9	p.L478Wfs*9	ENST00000355899	13/16	87	64	23	90	90	0	sindel-varindel-pindel	PLS3,frameshift_variant,p.Leu478TrpfsTer9,ENST00000355899,NM_005032.6;PLS3,frameshift_variant,p.Leu465TrpfsTer9,ENST00000420625,;PLS3,frameshift_variant,p.Leu478TrpfsTer9,ENST00000539310,NM_001172335.2,NM_001136025.4,NM_001282338.1;PLS3,frameshift_variant,p.Leu465TrpfsTer9,ENST00000289290,NM_001282337.1;PLS3,downstream_gene_variant,,ENST00000497870,;PLS3,3_prime_UTR_variant,,ENST00000481823,;PLS3,downstream_gene_variant,,ENST00000466150,;	-	ENST00000355899	Transcript	frameshift_variant	1517/3280	1430/1893	477/630	S/X	tCc/tc		1		1	PLS3	HGNC	HGNC:9091	protein_coding	YES	CCDS14568.1	ENSP00000348163	P13797		UPI000000D962	NM_005032.6			13/16		PROSITE_profiles:PS50021,hmmpanther:PTHR19961,hmmpanther:PTHR19961:SF32,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	33	115646454	115646454	C	-	1	0	1	0	1	0	0	0	0	12216	855	30	0		0	PLS3	23	115646454	Frame_Shift_Del	DEL	C	C3L-02350_TP	3928264	115646454	40394441	48	9473											
STAG2	0	.	GRCh38	chrX	124062974	124062974	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctttttgccgtggccCttcctcagttattagcaaaa	8	14	8	11	1	1	1	1	1	0	0	2	1	2	1	3	1	3	3	3	1	4	5	novel		C3L-02350_TP	C3L-02350_NB	C	C																c.1711C>G	p.Leu571Val	p.L571V	ENST00000218089	18/35	99	78	21	131	131	0	strelka-varscan-mutect	STAG2,missense_variant,p.Leu571Val,ENST00000371160,NM_001282418.1;STAG2,missense_variant,p.Leu571Val,ENST00000371157,NM_006603.4;STAG2,missense_variant,p.Leu571Val,ENST00000218089,NM_001042749.2;STAG2,missense_variant,p.Leu571Val,ENST00000371145,NM_001042750.1;STAG2,missense_variant,p.Leu571Val,ENST00000371144,NM_001042751.1;STAG2,downstream_gene_variant,,ENST00000455404,;STAG2,non_coding_transcript_exon_variant,,ENST00000466748,;STAG2,non_coding_transcript_exon_variant,,ENST00000483575,;STAG2,non_coding_transcript_exon_variant,,ENST00000471107,;STAG2,intron_variant,,ENST00000469481,;	G	ENST00000218089	Transcript	missense_variant	2221/5218	1711/3807	571/1268	L/V	Ctt/Gtt		1		1	STAG2	HGNC	HGNC:11355	protein_coding	YES	CCDS43990.1	ENSP00000218089	Q8N3U4		UPI00004A3A8A	NM_001042749.2	deleterious(0)		18/35		hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	33	124062974	124062974	C	G	1	0	0	0	0	1	0	0	0	15621	681	24	4		4	STAG2	23	124062974	Missense_Mutation	SNP	C	C3L-02350_TP	8416520	124062974	31977921	49	9474											
USP26	0	.	GRCh38	chrX	133027674	133027674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctgagctagatgagagcaTtcttttcctcttcttgtgct	6	17	8	10	0	4	3	0	2	4	2	5	4	5	3	1	0	3	3	1	0	1	6	novel		C3L-02350_TP	C3L-02350_NB	T	T																c.547A>G	p.Met183Val	p.M183V	ENST00000511190	6/6	52	37	15	74	74	0	strelka-varscan-mutect	USP26,missense_variant,p.Met183Val,ENST00000511190,;USP26,missense_variant,p.Met183Val,ENST00000370832,NM_031907.1;	C	ENST00000511190	Transcript	missense_variant	1017/3665	547/2742	183/913	M/V	Atg/Gtg		1		-1	USP26	HGNC	HGNC:13485	protein_coding	YES	CCDS14635.1	ENSP00000423390	Q9BXU7		UPI00000421FD		tolerated(0.27)		6/6																			MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	33	133027674	133027674	T	C	1	0	0	0	0	1	0	0	0	17598	1493	52	5		5	USP26	23	133027674	Missense_Mutation	SNP	T	C3L-02350_TP	8964700	133027674	23013221	50	9475											
FLNA	0	.	GRCh38	chrX	154370884	154370885	+	Frame_Shift_Ins	INS	-	-	G																															tccctcaccgatggacaccaINSgtttgatgctctcgcggtcc																								novel		C3L-02350_TP	C3L-02350_NB	-	-																c.361dupC	p.Leu121ProfsTer41	p.L121Pfs*41	ENST00000369850	2/48	76	60	16	83	83	0	sindel-varindel-pindel	FLNA,frameshift_variant,p.Leu121ProfsTer41,ENST00000422373,NM_001456.3;FLNA,frameshift_variant,p.Leu121ProfsTer41,ENST00000369850,NM_001110556.1;FLNA,frameshift_variant,p.Leu121ProfsTer41,ENST00000360319,;FLNA,frameshift_variant,p.Leu94ProfsTer41,ENST00000369856,;FLNA,frameshift_variant,p.Leu121ProfsTer41,ENST00000344736,;FLNA,frameshift_variant,p.Leu94ProfsTer41,ENST00000610817,;FLNA,frameshift_variant,p.Leu107ProfsTer41,ENST00000420627,;	G	ENST00000369850	Transcript	frameshift_variant	598-599/8382	361-362/7944	121/2647	L/PX	ctg/cCtg		1		-1	FLNA	HGNC	HGNC:3754	protein_coding	YES	CCDS48194.1	ENSP00000358866	P21333		UPI000013C596	NM_001110556.1			2/48		PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF173,PROSITE_patterns:PS00020,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	33	154370884	154370884	-	G	1	0	1	1	0	0	0	0	0	5789	188	7	0		0	FLNA	23	154370884	Frame_Shift_Ins	INS	-	C3L-02350_TP	21343210	154370884	1670011	51	9476											
CDK11B	0	.	GRCh38	chr1	1645239	1645239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctcccgctcccgcttcCtttctaactgctccaagcgg	4	11	8	18	4	1	0	0	0	1	0	5	0	5	0	4	1	4	4	4	1	2	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.518G>T	p.Arg173Met	p.R173M	ENST00000407249	6/20	570	516	54	418	417	1	varscan-mutect	CDK11B,missense_variant,p.Arg173Met,ENST00000341832,NM_033487.2,NM_033486.2,NM_033490.2,NM_001291345.1;CDK11B,missense_variant,p.Arg173Met,ENST00000407249,NM_001787.2;CDK11B,missense_variant,p.Arg139Met,ENST00000340677,NM_033489.2;CDK11B,missense_variant,p.Arg176Met,ENST00000629312,;CDK11B,missense_variant,p.Arg174Met,ENST00000629289,;CDK11B,missense_variant,p.Arg163Met,ENST00000626918,;CDK11B,intron_variant,,ENST00000341028,;CDK11B,intron_variant,,ENST00000611150,;CDK11B,intron_variant,,ENST00000615951,;	A	ENST00000407249	Transcript	missense_variant	630/2677	518/2388	173/795	R/M	aGg/aTg		1		-1	CDK11B	HGNC	HGNC:1729	protein_coding	YES	CCDS72683.1	ENSP00000464036		J3QR44	UPI0003EAF5FB	NM_001787.2	deleterious_low_confidence(0)		6/20		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	1645239	1645239	C	A	1	0	0	0	0	1	0	0	0	2831	681	24	2		2	CDK11B	1	1645239	Missense_Mutation	SNP	C	C3L-02365_TP		1645239	247311183	1	9477											
NPHP4	0	.	GRCh38	chr1	5905341	5905341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgttgctttgtagacaatCtgattcttccttctgagggt	6	17	9	9	1	3	3	0	2	3	1	5	3	4	3	1	1	1	3	1	1	2	6	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1906G>A	p.Asp636Asn	p.D636N	ENST00000378156	15/30	154	105	49	150	150	0	strelka-varscan-mutect	NPHP4,missense_variant,p.Asp636Asn,ENST00000378156,NM_001291594.1,NM_001291593.1,NM_015102.4;NPHP4,missense_variant,p.Asp635Asn,ENST00000622020,;NPHP4,non_coding_transcript_exon_variant,,ENST00000478423,;NPHP4,missense_variant,p.Asp635Asn,ENST00000489180,;NPHP4,3_prime_UTR_variant,,ENST00000378169,;NPHP4,upstream_gene_variant,,ENST00000466897,;	T	ENST00000378156	Transcript	missense_variant	2172/4994	1906/4281	636/1426	D/N	Gat/Aat		1		-1	NPHP4	HGNC	HGNC:19104	protein_coding	YES	CCDS44052.1	ENSP00000367398	O75161		UPI00001303E5	NM_001291594.1,NM_001291593.1,NM_015102.4	deleterious(0)		15/30		hmmpanther:PTHR31043,hmmpanther:PTHR31043:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	5905341	5905341	C	T	1	0	0	0	0	1	0	0	0	10629	913	32	3		3	NPHP4	1	5905341	Missense_Mutation	SNP	C	C3L-02365_TP	4260102	5905341	243051081	2	9478											
SPEN	0	.	GRCh38	chr1	15932086	15932086	+	Missense_Mutation	SNP	G	G	T																															agcggttcccaccacccctcGgaggggaaggcctccaaaga																								novel		C3L-02365_TP	C3L-02365_NB	G	G																c.5846G>T	p.Arg1949Leu	p.R1949L	ENST00000375759	11/15	279	249	30	199	198	1	strelka-varscan-mutect	SPEN,missense_variant,p.Arg1949Leu,ENST00000375759,NM_015001.2;	T	ENST00000375759	Transcript	missense_variant	6050/12232	5846/10995	1949/3664	R/L	cGg/cTg		1		1	SPEN	HGNC	HGNC:17575	protein_coding	YES	CCDS164.1	ENSP00000364912	Q96T58		UPI000006FF0C	NM_015001.2	deleterious(0)		11/15		Low_complexity_(Seg):seg,hmmpanther:PTHR23189:SF48,hmmpanther:PTHR23189																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	15932086	15932086	G	T	1	0	0	0	0	1	0	0	0	15389	1116	39	1		1	SPEN	1	15932086	Missense_Mutation	SNP	G	C3L-02365_TP	10026745	15932086	233024336	3	9479	210	2									
SPEN	0	.	GRCh38	chr1	15932090	15932090	+	Missense_Mutation	SNP	G	G	T																															gttcccaccacccctcggagGggaaggcctccaaagacacg																								novel		C3L-02365_TP	C3L-02365_NB	G	G																c.5850G>T	p.Arg1950Ser	p.R1950S	ENST00000375759	11/15	265	236	29	194	194	0	strelka-varscan-mutect	SPEN,missense_variant,p.Arg1950Ser,ENST00000375759,NM_015001.2;	T	ENST00000375759	Transcript	missense_variant	6054/12232	5850/10995	1950/3664	R/S	agG/agT		1		1	SPEN	HGNC	HGNC:17575	protein_coding	YES	CCDS164.1	ENSP00000364912	Q96T58		UPI000006FF0C	NM_015001.2	deleterious(0)		11/15		Low_complexity_(Seg):seg,hmmpanther:PTHR23189:SF48,hmmpanther:PTHR23189																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	15932090	15932090	G	T	1	0	0	0	0	1	0	0	0	15389	1223	43	2		2	SPEN	1	15932090	Missense_Mutation	SNP	G	C3L-02365_TP	4	15932090	233024332	4	9480	210	2									
FBXO42	0	.	GRCh38	chr1	16315205	16315205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccactgtttgcagacaagggCcgcagttttgtgttcctgat	7	13	11	10	1	0	2	0	1	0	1	1	2	1	2	3	1	1	5	3	1	1	4	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.214G>T	p.Ala72Ser	p.A72S	ENST00000375592	2/10	194	165	29	160	159	1	strelka-varscan-mutect	FBXO42,missense_variant,p.Ala72Ser,ENST00000375592,NM_018994.2;FBXO42,non_coding_transcript_exon_variant,,ENST00000478089,;	A	ENST00000375592	Transcript	missense_variant	431/6202	214/2154	72/717	A/S	Gcc/Tcc		1		-1	FBXO42	HGNC	HGNC:29249	protein_coding	YES	CCDS30613.1	ENSP00000364742	Q6P3S6	A0A024QZB0	UPI0000161A51	NM_018994.2	tolerated(0.16)		2/10		Gene3D:1.20.1280.50,Pfam_domain:PF12937,PROSITE_profiles:PS50181,SMART_domains:SM00256,Superfamily_domains:SSF81383																	MODERATE	1	SNV	1			1										PASS		rs1363567705	.												A	3	1	34	16315205	16315205	C	A	1	0	0	0	0	1	0	0	0	5614	739	26	2		2	FBXO42	1	16315205	Missense_Mutation	SNP	C	C3L-02365_TP	383115	16315205	232641217	5	9481											
IGSF21	0	.	GRCh38	chr1	18376956	18376956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaccgcccagaacccactgGgctccaccgacacgcacacc	10	2	8	21	3	0	1	0	0	0	1	1	2	1	1	6	1	1	3	6	1	1	0	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1258G>T	p.Gly420Cys	p.G420C	ENST00000251296	8/10	65	54	11	42	42	0	strelka-mutect	IGSF21,missense_variant,p.Gly420Cys,ENST00000251296,NM_032880.4;IGSF21,downstream_gene_variant,,ENST00000412684,;IGSF21,downstream_gene_variant,,ENST00000473951,;IGSF21,non_coding_transcript_exon_variant,,ENST00000497331,;	T	ENST00000251296	Transcript	missense_variant	1641/1943	1258/1404	420/467	G/C	Ggc/Tgc		1		1	IGSF21	HGNC	HGNC:28246	protein_coding	YES	CCDS184.1	ENSP00000251296	Q96ID5		UPI000006FCF2	NM_032880.4	deleterious(0)		8/10		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF442,hmmpanther:PTHR10489,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	18376956	18376956	G	T	1	0	0	0	0	1	0	0	0	7506	1232	43	2		2	IGSF21	1	18376956	Missense_Mutation	SNP	G	C3L-02365_TP	2061751	18376956	230579466	6	9482											
EMC1	0	.	GRCh38	chr1	19222723	19222723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggaggacctggggcaGctgggggcggtccagggagc	5	5	21	10	1	0	0	0	0	0	0	1	3	1	3	2	8	3	3	2	8	0	0	rs370065062		C3L-02365_TP	C3L-02365_NB	G	G																c.2488C>G	p.Leu830Val	p.L830V	ENST00000477853	20/23	202	115	87	156	156	0	strelka-varscan-mutect	EMC1,missense_variant,p.Leu830Val,ENST00000477853,NM_001271428.1,NM_015047.2;EMC1,missense_variant,p.Leu829Val,ENST00000375199,NM_001271427.1;EMC1,missense_variant,p.Leu808Val,ENST00000375208,NM_001271429.1;EMC1,missense_variant,p.Leu75Val,ENST00000486405,;RP1-43E13.2,intron_variant,,ENST00000437898,;EMC1,non_coding_transcript_exon_variant,,ENST00000494770,;EMC1,upstream_gene_variant,,ENST00000480380,;EMC1,upstream_gene_variant,,ENST00000461353,;EMC1,upstream_gene_variant,,ENST00000496654,;EMC1,missense_variant,p.Leu14Val,ENST00000486238,;EMC1,non_coding_transcript_exon_variant,,ENST00000462505,;	C	ENST00000477853	Transcript	missense_variant	2531/6664	2488/2982	830/993	L/V	Ctg/Gtg	rs370065062	1		-1	EMC1	HGNC	HGNC:28957	protein_coding	YES	CCDS190.1	ENSP00000420608	Q8N766		UPI0000070A23	NM_001271428.1,NM_015047.2	tolerated(0.73)		20/23		hmmpanther:PTHR21573:SF0,hmmpanther:PTHR21573,Pfam_domain:PF07774																	MODERATE	1	SNV	1			1										PASS		rs370065062	.												C	3	2	34	19222723	19222723	G	C	1	0	0	0	0	1	0	0	0	4921	962	34	4		4	EMC1	1	19222723	Missense_Mutation	SNP	G	C3L-02365_TP	845767	19222723	229733699	7	9483											
MYOM3	0	.	GRCh38	chr1	24074245	24074245	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccaaatcctcgaggccGggttctttcaggatgacctt	7	11	11	12	2	2	1	1	1	1	0	4	3	3	2	4	3	1	1	4	3	1	3			C3L-02365_TP	C3L-02365_NB	G	G																c.2883C>A	p.=	p.P961P	ENST00000374434	23/37	216	183	33	120	120	0	strelka-varscan-mutect	MYOM3,synonymous_variant,p.=,ENST00000374434,NM_152372.3;RP11-293P20.4,intron_variant,,ENST00000429191,;RP11-293P20.2,intron_variant,,ENST00000439239,;MYOM3,intron_variant,,ENST00000448831,;	T	ENST00000374434	Transcript	synonymous_variant	3046/5804	2883/4314	961/1437	P	ccC/ccA	COSM4485015,COSM4485016	1		-1	MYOM3	HGNC	HGNC:26679	protein_coding	YES	CCDS41281.1	ENSP00000363557	Q5VTT5		UPI0000203A5D	NM_152372.3			23/37		Gene3D:2.60.40.10,SMART_domains:SM00409											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1273323576	.												T	2	4	34	24074245	24074245	G	T	1	0	0	0	0	0	0	0	1	10094	1103	39	1		1	MYOM3	1	24074245	Silent	SNP	G	C3L-02365_TP	4851522	24074245	224882177	8	9484											
ZNF683	0	.	GRCh38	chr1	26367773	26367773	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgagcatccaccatgtctgGaagtggtctgcaggctgaga	10	9	13	9	0	2	2	0	2	2	1	3	4	3	3	2	3	2	3	2	3	1	0			C3L-02365_TP	C3L-02365_NB	G	G																c.139C>G	p.Pro47Ala	p.P47A	ENST00000436292	3/7	89	43	46	67	67	0	strelka-varscan-mutect	ZNF683,missense_variant,p.Pro47Ala,ENST00000436292,NM_001307925.1;ZNF683,missense_variant,p.Pro47Ala,ENST00000403843,;ZNF683,missense_variant,p.Pro47Ala,ENST00000349618,NM_001114759.1,NM_173574.2;ZNF683,missense_variant,p.Pro55Ala,ENST00000455900,;ZNF683,missense_variant,p.Pro47Ala,ENST00000451801,;ZNF683,missense_variant,p.Pro47Ala,ENST00000416125,;ZNF683,missense_variant,p.Pro55Ala,ENST00000423508,;ZNF683,intron_variant,,ENST00000453132,;ZNF683,intron_variant,,ENST00000454975,;	C	ENST00000436292	Transcript	missense_variant	260/1712	139/1575	47/524	P/A	Cca/Gca	COSM1243780,COSM1243781	1		-1	ZNF683	HGNC	HGNC:28495	protein_coding	YES	CCDS76126.1	ENSP00000388792	Q8IZ20		UPI0000EE2F2D	NM_001307925.1	tolerated(0.08)		3/7													1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												C	3	2	34	26367773	26367773	G	C	1	0	0	0	0	1	0	0	0	18663	1174	41	4		4	ZNF683	1	26367773	Missense_Mutation	SNP	G	C3L-02365_TP	2293528	26367773	222588649	9	9485											
CSMD2	0	.	GRCh38	chr1	33623398	33623398	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccccagcatggttacagtGttatctgcaccatcaaatac	11	11	6	13	0	2	0	1	0	1	0	3	0	3	0	3	1	4	4	3	1	4	3	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.5694C>G	p.Asn1898Lys	p.N1898K	ENST00000373381	36/71	301	246	55	248	248	0	strelka-varscan-mutect	CSMD2,missense_variant,p.Asn1898Lys,ENST00000373381,NM_001281956.1;CSMD2,missense_variant,p.Asn1858Lys,ENST00000619121,;CSMD2,missense_variant,p.Asn1858Lys,ENST00000373388,NM_052896.4;CSMD2,missense_variant,p.Asn771Lys,ENST00000373380,;CSMD2,5_prime_UTR_variant,,ENST00000373377,;CSMD2,missense_variant,p.Asn1858Lys,ENST00000241312,;	C	ENST00000373381	Transcript	missense_variant	5871/13698	5694/10896	1898/3631	N/K	aaC/aaG		1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1	tolerated(0.19)		36/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	33623398	33623398	G	C	1	0	0	0	0	1	0	0	0	3746	1368	48	4		4	CSMD2	1	33623398	Missense_Mutation	SNP	G	C3L-02365_TP	7255625	33623398	215333024	10	9486											
GJB4	0	.	GRCh38	chr1	34761471	34761471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagttcttccccgtgtccCacgtgcgcctctgggcccta	4	10	10	17	4	2	0	0	0	2	0	4	1	4	0	5	1	1	1	5	1	1	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.217C>T	p.His73Tyr	p.H73Y	ENST00000339480	2/2	543	394	149	402	402	0	strelka-varscan-mutect	GJB4,missense_variant,p.His73Tyr,ENST00000339480,NM_153212.2;GJB5,downstream_gene_variant,,ENST00000338513,NM_005268.3;RP1-34M23.5,non_coding_transcript_exon_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	T	ENST00000339480	Transcript	missense_variant	587/2840	217/801	73/266	H/Y	Cac/Tac		1		1	GJB4	HGNC	HGNC:4286	protein_coding	YES	CCDS383.1	ENSP00000345868	Q9NTQ9		UPI0000051E4B	NM_153212.2	deleterious(0.02)		2/2		Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF30,SMART_domains:SM00037																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	34	34761471	34761471	C	T	1	0	0	0	0	1	0	0	0	6287	594	21	3		3	GJB4	1	34761471	Missense_Mutation	SNP	C	C3L-02365_TP	1138073	34761471	214194951	11	9487											
MACF1	0	.	GRCh38	chr1	39459244	39459244	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgatgccttggatcggctgGaggaggtaatgccctgctga	8	10	15	8	1	0	2	0	2	0	0	1	5	0	5	2	5	3	3	2	5	1	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.15178G>T	p.Glu5060Ter	p.E5060*	ENST00000361689	86/93	115	60	55	107	107	0	strelka-varscan-mutect	MACF1,stop_gained,p.Glu7119Ter,ENST00000564288,;MACF1,stop_gained,p.Glu7156Ter,ENST00000567887,;MACF1,stop_gained,p.Glu7018Ter,ENST00000372915,;MACF1,stop_gained,p.Glu5562Ter,ENST00000289893,;MACF1,stop_gained,p.Glu5060Ter,ENST00000361689,NM_012090.5;MACF1,stop_gained,p.Glu4064Ter,ENST00000372925,;MACF1,stop_gained,p.Glu162Ter,ENST00000360115,;MACF1,stop_gained,p.Glu42Ter,ENST00000446276,;MACF1,upstream_gene_variant,,ENST00000442046,;MACF1,upstream_gene_variant,,ENST00000422234,;MACF1,non_coding_transcript_exon_variant,,ENST00000497964,;MACF1,upstream_gene_variant,,ENST00000462496,;	T	ENST00000361689	Transcript	stop_gained	15230/17538	15178/16293	5060/5430	E/*	Gag/Tag		1		1	MACF1	HGNC	HGNC:13664	protein_coding	YES	CCDS435.1	ENSP00000354573	Q9UPN3		UPI00001B3DC6	NM_012090.5			86/93		Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	34	39459244	39459244	G	T	1	0	0	0	0	0	1	0	0	9060	1188	41	2		2	MACF1	1	39459244	Nonsense_Mutation	SNP	G	C3L-02365_TP	4697773	39459244	209497178	12	9488											
DMBX1	0	.	GRCh38	chr1	46512275	46512275	+	Silent	SNP	C	C	A																															tacctgggcgtcaacatggcCccgctgggctcactgcactg																								novel		C3L-02365_TP	C3L-02365_NB	C	C																c.915C>A	p.=	p.A305A	ENST00000360032	4/4	334	291	43	216	216	0	strelka-varscan-mutect	DMBX1,synonymous_variant,p.=,ENST00000371956,NM_147192.2;DMBX1,synonymous_variant,p.=,ENST00000360032,NM_172225.1;	A	ENST00000360032	Transcript	synonymous_variant	929/2880	915/1134	305/377	A	gcC/gcA		1		1	DMBX1	HGNC	HGNC:19026	protein_coding	YES	CCDS536.1	ENSP00000353132	Q8NFW5		UPI0000070B63	NM_172225.1			4/4																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	46512275	46512275	C	A	1	0	0	0	0	0	0	0	1	4385	610	22	2		2	DMBX1	1	46512275	Silent	SNP	C	C3L-02365_TP	7053031	46512275	202444147	13	9489	211	2									
DMBX1	0	.	GRCh38	chr1	46512276	46512276	+	Missense_Mutation	SNP	C	C	A																															acctgggcgtcaacatggccCcgctgggctcactgcactgc																								novel		C3L-02365_TP	C3L-02365_NB	C	C																c.916C>A	p.Pro306Thr	p.P306T	ENST00000360032	4/4	334	293	41	215	215	0	strelka-varscan-mutect	DMBX1,missense_variant,p.Pro311Thr,ENST00000371956,NM_147192.2;DMBX1,missense_variant,p.Pro306Thr,ENST00000360032,NM_172225.1;	A	ENST00000360032	Transcript	missense_variant	930/2880	916/1134	306/377	P/T	Ccg/Acg		1		1	DMBX1	HGNC	HGNC:19026	protein_coding	YES	CCDS536.1	ENSP00000353132	Q8NFW5		UPI0000070B63	NM_172225.1	tolerated_low_confidence(0.15)		4/4																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	46512276	46512276	C	A	1	0	0	0	0	1	0	0	0	4385	623	22	2		2	DMBX1	1	46512276	Missense_Mutation	SNP	C	C3L-02365_TP	1	46512276	202444146	14	9490	211	2									
CACHD1	0	.	GRCh38	chr1	64653779	64653779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatacacttatgcacccatCtcttaccaggccatatttat	12	14	3	12	0	1	0	0	0	1	0	2	0	1	0	3	1	3	1	3	1	6	7	rs765925747		C3L-02365_TP	C3L-02365_NB	C	C																c.1409C>G	p.Ser470Cys	p.S470C	ENST00000290039	11/27	199	170	29	180	180	0	strelka-varscan-mutect	CACHD1,missense_variant,p.Ser470Cys,ENST00000290039,NM_020925.2,NM_001293274.1;CACHD1,non_coding_transcript_exon_variant,,ENST00000495994,;CACHD1,non_coding_transcript_exon_variant,,ENST00000470527,;	G	ENST00000290039	Transcript	missense_variant	1515/5275	1409/3672	470/1223	S/C	tCt/tGt	rs765925747	1		1	CACHD1	HGNC	HGNC:29314	protein_coding	YES	CCDS628.2	ENSP00000290039		A0A0A0MQY7	UPI0000458A70	NM_020925.2,NM_001293274.1	deleterious(0)		11/27		hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF40																	MODERATE	1	SNV	5			1										PASS		rs765925747	.												G	3	3	34	64653779	64653779	C	G	1	0	0	0	0	1	0	0	0	2225	913	32	4		4	CACHD1	1	64653779	Missense_Mutation	SNP	C	C3L-02365_TP	18141503	64653779	184302643	15	9491											
LRRC53	0	.	GRCh38	chr1	74480430	74480430	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactggttcttatctaagctCagaaggattaactgcttcag	11	13	8	9	0	4	1	2	0	2	1	4	2	4	2	0	2	3	3	0	2	4	5	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.627G>A	p.=	p.L209L	ENST00000294635	3/5	339	292	47	324	324	0	strelka-varscan-mutect	LRRC53,synonymous_variant,p.=,ENST00000294635,;TNNI3K,intron_variant,,ENST00000326637,NM_015978.2;FPGT-TNNI3K,intron_variant,,ENST00000557284,NM_001112808.2;	T	ENST00000294635	Transcript	synonymous_variant	742/3859	627/3744	209/1247	L	ctG/ctA		1		-1	LRRC53	HGNC	HGNC:25255	protein_coding	YES		ENSP00000294635	A6NM62		UPI000178DEDE				3/5		PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF379,Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	LOW		SNV	5			1										PASS		.	.												T	2	4	34	74480430	74480430	C	T	1	0	0	0	0	0	0	0	1	8905	813	29	3		3	LRRC53	1	74480430	Silent	SNP	C	C3L-02365_TP	9826651	74480430	174475992	16	9492											
ACADM	0	.	GRCh38	chr1	75761369	75761369	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggatgccaaaatctatcAggtaaggttaaagatgattt	15	11	11	4	0	2	2	1	1	1	1	2	4	2	3	1	3	1	2	1	3	6	4	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.1292A>T	p.Gln431Leu	p.Q431L	ENST00000370834	12/13	330	278	52	365	365	0	strelka-varscan-mutect	ACADM,missense_variant,p.Gln398Leu,ENST00000370841,NM_000016.5;ACADM,missense_variant,p.Gln362Leu,ENST00000541113,NM_001286042.1;ACADM,missense_variant,p.Gln431Leu,ENST00000370834,NM_001286043.1;ACADM,missense_variant,p.Gln402Leu,ENST00000420607,NM_001127328.2;ACADM,splice_region_variant,,ENST00000481374,;ACADM,splice_region_variant,,ENST00000526196,;ACADM,splice_region_variant,,ENST00000525808,;ACADM,splice_region_variant,,ENST00000529059,;ACADM,3_prime_UTR_variant,,ENST00000526129,;ACADM,intron_variant,,ENST00000528016,;ACADM,downstream_gene_variant,,ENST00000534334,;ACADM,downstream_gene_variant,,ENST00000532207,;	T	ENST00000370834	Transcript	missense_variant,splice_region_variant	1371/2172	1292/1365	431/454	Q/L	cAg/cTg		1		1	ACADM	HGNC	HGNC:89	protein_coding	YES	CCDS72807.1	ENSP00000359871		Q5T4U5	UPI0000470C0B	NM_001286043.1	deleterious(0)		12/13		Gene3D:1.20.140.10,Pfam_domain:PF00441,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF240,Superfamily_domains:SSF47203																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	75761369	75761369	A	T	1	0	0	0	0	1	0	0	0	156	202	7	4		4	ACADM	1	75761369	Missense_Mutation	SNP	A	C3L-02365_TP	1280939	75761369	173195053	17	9493											
NEXN	0	.	GRCh38	chr1	77942097	77942097	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgaatatgaaagctagAtttgaacaaatggctaaggc	18	9	10	4	0	0	4	0	3	0	1	0	4	0	4	0	2	2	2	0	2	8	4	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.1548A>G	p.=	p.R516R	ENST00000334785	12/13	399	280	119	411	411	0	strelka-varscan-mutect	NEXN,synonymous_variant,p.=,ENST00000330010,NM_001172309.1;NEXN,synonymous_variant,p.=,ENST00000342754,;NEXN,synonymous_variant,p.=,ENST00000334785,NM_144573.3;NEXN,non_coding_transcript_exon_variant,,ENST00000480732,;FUBP1,downstream_gene_variant,,ENST00000489495,;FUBP1,downstream_gene_variant,,ENST00000492405,;FUBP1,downstream_gene_variant,,ENST00000474632,;FUBP1,downstream_gene_variant,,ENST00000488814,;FUBP1,downstream_gene_variant,,ENST00000483894,;FUBP1,downstream_gene_variant,,ENST00000492724,;FUBP1,downstream_gene_variant,,ENST00000480673,;NEXN,non_coding_transcript_exon_variant,,ENST00000470735,;FUBP1,downstream_gene_variant,,ENST00000294623,;	G	ENST00000334785	Transcript	synonymous_variant	1732/2607	1548/2028	516/675	R	agA/agG		1		1	NEXN	HGNC	HGNC:29557	protein_coding	YES	CCDS41351.1	ENSP00000333938	Q0ZGT2		UPI000022ABDC	NM_144573.3			12/13		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10489:SF677,hmmpanther:PTHR10489																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	34	77942097	77942097	A	G	1	0	0	0	0	0	0	0	1	10392	330	12	5		5	NEXN	1	77942097	Silent	SNP	A	C3L-02365_TP	2180728	77942097	171014325	18	9494											
CLCA2	0	.	GRCh38	chr1	86443967	86443967	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaataattttatcaccaatCtaacttttcggacagctagt	14	14	4	9	1	2	0	1	0	1	0	3	1	2	1	1	1	2	1	1	1	6	7	rs774054137		C3L-02365_TP	C3L-02365_NB	C	C																c.1669C>G	p.Leu557Val	p.L557V	ENST00000370565	10/14	274	201	73	215	215	0	strelka-varscan-mutect	CLCA2,missense_variant,p.Leu557Val,ENST00000370565,NM_006536.5;CLCA2,non_coding_transcript_exon_variant,,ENST00000490884,;CLCA2,upstream_gene_variant,,ENST00000498802,;	G	ENST00000370565	Transcript	missense_variant	1831/4025	1669/2832	557/943	L/V	Cta/Gta	rs774054137	1		1	CLCA2	HGNC	HGNC:2016	protein_coding	YES	CCDS708.1	ENSP00000359596	Q9UQC9		UPI0000035838	NM_006536.5	tolerated(0.19)		10/14		Pfam_domain:PF08434,hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF66,TIGRFAM_domain:TIGR00868																	MODERATE	1	SNV	1			1										PASS		rs774054137	.												G	3	3	34	86443967	86443967	C	G	1	0	0	0	0	1	0	0	0	3222	912	32	4		4	CLCA2	1	86443967	Missense_Mutation	SNP	C	C3L-02365_TP	8501870	86443967	162512455	19	9495											
CLCA4	0	.	GRCh38	chr1	86575492	86575492	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccaatgattgtttacgCagaaattctacaaggatatg	14	11	8	8	1	1	2	0	1	1	1	1	3	1	3	1	1	3	2	1	1	6	6	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1844C>A	p.Ala615Glu	p.A615E	ENST00000370563	11/14	460	427	33	340	339	1	strelka-varscan-mutect	CLCA4,missense_variant,p.Ala615Glu,ENST00000370563,NM_012128.3;RP4-651E10.4,intron_variant,,ENST00000456587,;CLCA4,downstream_gene_variant,,ENST00000496322,;	A	ENST00000370563	Transcript	missense_variant	1886/3211	1844/2760	615/919	A/E	gCa/gAa		1		1	CLCA4	HGNC	HGNC:2018	protein_coding	YES	CCDS41355.1	ENSP00000359594	Q14CN2		UPI00000389E8	NM_012128.3	deleterious(0)		11/14		hmmpanther:PTHR10579:SF2,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868,Pfam_domain:PF08434																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	86575492	86575492	C	A	1	0	0	0	0	1	0	0	0	3223	710	25	2		2	CLCA4	1	86575492	Missense_Mutation	SNP	C	C3L-02365_TP	131525	86575492	162380930	20	9496											
FAM102B	0	.	GRCh38	chr1	108628805	108628805	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctagattccagtgcggaagGtgtgtaggtaactgttaagc	10	11	13	7	1	0	1	0	0	0	1	1	2	1	2	2	3	3	3	2	3	5	5	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.970+1G>T		p.X324_splice	ENST00000370035		104	92	12	93	93	0	strelka-varscan-mutect	FAM102B,splice_donor_variant,,ENST00000370035,NM_001010883.2;FAM102B,splice_donor_variant,,ENST00000405454,;FAM102B,splice_donor_variant,,ENST00000483371,;	T	ENST00000370035	Transcript	splice_donor_variant	-/5600	970/1083	324/360				1		1	FAM102B	HGNC	HGNC:27637	protein_coding	YES	CCDS30786.2	ENSP00000359052	Q5T8I3		UPI00001D7585	NM_001010883.2				9/10																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	34	108628805	108628805	G	T	1	0	0	0	0	0	0	1	0	5251	1275	44	2		2	FAM102B	1	108628805	Splice_Site	SNP	G	C3L-02365_TP	22053313	108628805	140327617	21	9497											
WDR47	0	.	GRCh38	chr1	109011507	109011510	+	Frame_Shift_Del	DEL	CTAT	CTAT	-																															aaccagcttcacttagcttcCtatcagcagggatgaattct																								novel		C3L-02365_TP	C3L-02365_NB	CTAT	CTAT																c.557_560delATAG	p.Asp186GlyfsTer3	p.D186Gfs*3	ENST00000400794	5/15	280	143	137	226	226	0	sindel-varindel-pindel	WDR47,frameshift_variant,p.Asp179GlyfsTer3,ENST00000369965,NM_014969.5;WDR47,frameshift_variant,p.Asp179GlyfsTer3,ENST00000369962,NM_001142551.1;WDR47,frameshift_variant,p.Asp151GlyfsTer3,ENST00000357672,;WDR47,frameshift_variant,p.Asp186GlyfsTer3,ENST00000400794,NM_001142550.1;WDR47,frameshift_variant,p.Asp151GlyfsTer3,ENST00000361054,;WDR47,downstream_gene_variant,,ENST00000529074,;WDR47,downstream_gene_variant,,ENST00000528747,;WDR47,downstream_gene_variant,,ENST00000530772,;WDR47,downstream_gene_variant,,ENST00000531337,;	-	ENST00000400794	Transcript	frameshift_variant	691-694/4134	557-560/2784	186-187/927	DR/X	gATAGg/gg		1		-1	WDR47	HGNC	HGNC:29141	protein_coding	YES	CCDS44186.1	ENSP00000383599	O94967		UPI0001639B05	NM_001142550.1			5/15		hmmpanther:PTHR19863																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	34	109011507	109011507	CTAT	-	1	0	1	0	1	0	0	0	0	17860	681	24	0		0	WDR47	1	109011507	Frame_Shift_Del	DEL	CTAT	C3L-02365_TP	382702	109011507	139944915	22	9498											
CELSR2	0	.	GRCh38	chr1	109258598	109258598	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgccacgctggccacGccaccggaccacgtggtggt	5	5	15	16	5	0	0	0	0	0	0	0	1	0	1	6	5	0	1	6	5	0	0	rs768656316		C3L-02365_TP	C3L-02365_NB	G	G																c.3477G>A	p.=	p.T1159T	ENST00000271332	2/34	238	118	120	142	142	0	strelka-varscan-mutect	CELSR2,synonymous_variant,p.=,ENST00000271332,NM_001408.2;	A	ENST00000271332	Transcript	synonymous_variant	3538/10534	3477/8772	1159/2923	T	acG/acA	rs768656316	1		1	CELSR2	HGNC	HGNC:3231	protein_coding	YES	CCDS796.1	ENSP00000271332	Q9HCU4		UPI00000015B6	NM_001408.2			2/34		hmmpanther:PTHR24026:SF32,hmmpanther:PTHR24026																	LOW	1	SNV	1			1										PASS		rs768656316	.												A	2	1	34	109258598	109258598	G	A	1	0	0	0	0	0	0	0	1	2929	1074	38	1		1	CELSR2	1	109258598	Silent	SNP	G	C3L-02365_TP	247091	109258598	139697824	23	9499											
FAM212B	0	.	GRCh38	chr1	111727249	111727249	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgtttgctgtcagggCgaacctgcggcccagctcct	8	9	12	12	2	1	1	1	0	0	1	2	2	2	1	3	2	4	3	3	2	2	1	rs764694872		C3L-02365_TP	C3L-02365_NB	C	C																c.613G>C	p.Ala205Pro	p.A205P	ENST00000357260	2/2	331	287	44	229	229	0	strelka-varscan-mutect	FAM212B,missense_variant,p.Ala205Pro,ENST00000357260,NM_019099.4;FAM212B,missense_variant,p.Ala190Pro,ENST00000444059,NM_198926.2;FAM212B,intron_variant,,ENST00000534365,;FAM212B,downstream_gene_variant,,ENST00000527621,;FAM212B,intron_variant,,ENST00000527570,;	G	ENST00000357260	Transcript	missense_variant	795/5980	613/894	205/297	A/P	Gcc/Ccc	rs764694872	1		-1	FAM212B	HGNC	HGNC:28045	protein_coding	YES	CCDS841.1	ENSP00000349805	Q9NTI7		UPI0000072CD1	NM_019099.4	deleterious(0)		2/2		hmmpanther:PTHR28615,hmmpanther:PTHR28615:SF2																	MODERATE	1	SNV	1			1										PASS		rs764694872	.												G	3	3	34	111727249	111727249	C	G	1	0	0	0	0	1	0	0	0	5399	768	27	4		4	FAM212B	1	111727249	Missense_Mutation	SNP	C	C3L-02365_TP	2468651	111727249	137229173	24	9500											
PHTF1	0	.	GRCh38	chr1	113705953	113705953	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccaagtaagacacaatctTtcaaaaaaattaattatcga	20	11	3	7	1	2	1	1	0	1	1	4	2	3	1	1	0	0	1	1	0	8	4	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.1608A>G	p.=	p.E536E	ENST00000369604	13/19	254	173	81	240	239	1	strelka-varscan-mutect	PHTF1,synonymous_variant,p.=,ENST00000369604,NM_001323043.1;PHTF1,synonymous_variant,p.=,ENST00000393357,NM_006608.2;PHTF1,synonymous_variant,p.=,ENST00000369600,;PHTF1,synonymous_variant,p.=,ENST00000369598,;PHTF1,synonymous_variant,p.=,ENST00000357783,NM_001323047.1;PHTF1,synonymous_variant,p.=,ENST00000412670,;PHTF1,non_coding_transcript_exon_variant,,ENST00000474926,;PHTF1,non_coding_transcript_exon_variant,,ENST00000481652,;	C	ENST00000369604	Transcript	synonymous_variant	2092/3273	1608/2289	536/762	E	gaA/gaG		1		-1	PHTF1	HGNC	HGNC:8939	protein_coding	YES	CCDS861.1	ENSP00000358617	Q9UMS5		UPI000013C9D0	NM_001323043.1			13/19		hmmpanther:PTHR12680,hmmpanther:PTHR12680:SF8																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	34	113705953	113705953	T	C	1	0	0	0	0	0	0	0	1	11950	1838	64	5		5	PHTF1	1	113705953	Silent	SNP	T	C3L-02365_TP	1978704	113705953	135250469	25	9501											
NOTCH2	0	.	GRCh38	chr1	119929064	119929064	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagctgcaggggttggagagGcactcgttgatgtctccctc	6	10	15	10	1	1	2	0	1	1	1	4	4	1	2	1	4	2	5	1	4	0	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.3804C>T	p.=	p.C1268C	ENST00000256646	23/34	702	610	92	486	486	0	strelka-varscan-mutect	NOTCH2,synonymous_variant,p.=,ENST00000256646,NM_024408.3;	A	ENST00000256646	Transcript	synonymous_variant	4024/11389	3804/7416	1268/2471	C	tgC/tgT		1		-1	NOTCH2	HGNC	HGNC:7882	protein_coding	YES	CCDS908.1	ENSP00000256646	Q04721		UPI000013CF1D	NM_024408.3			23/34		Gene3D:2gy5A03,PIRSF_domain:PIRSF002279,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF66,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	119929064	119929064	G	A	1	0	0	0	0	0	0	0	1	10593	1195	42	3		3	NOTCH2	1	119929064	Silent	SNP	G	C3L-02365_TP	6223111	119929064	129027358	26	9502											
PDZK1	0	.	GRCh38	chr1	145673670	145673670	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accatacctctttgatgaatGagcctggcagaccccgaatc	11	9	8	13	1	1	4	0	3	1	1	2	5	1	4	5	1	2	1	5	1	3	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1202C>G	p.Ser401Ter	p.S401*	ENST00000417171	7/9	179	167	12	87	87	0	varscan-mutect	PDZK1,stop_gained,p.Ser401Ter,ENST00000417171,NM_002614.4,NM_001201325.1;PDZK1,stop_gained,p.Ser401Ter,ENST00000344770,;PDZK1,stop_gained,p.Ser290Ter,ENST00000451928,NM_001201326.1;GPR89A,downstream_gene_variant,,ENST00000313835,NM_001097612.1;GPR89A,downstream_gene_variant,,ENST00000534502,NM_001097613.2;GPR89A,downstream_gene_variant,,ENST00000462900,;PDZK1,non_coding_transcript_exon_variant,,ENST00000465595,;PDZK1,non_coding_transcript_exon_variant,,ENST00000429537,;PDZK1,upstream_gene_variant,,ENST00000466386,;GPR89A,downstream_gene_variant,,ENST00000493684,;GPR89A,downstream_gene_variant,,ENST00000460277,;GPR89A,downstream_gene_variant,,ENST00000465185,;	C	ENST00000417171	Transcript	stop_gained	1288/2230	1202/1560	401/519	S/*	tCa/tGa		1		-1	PDZK1	HGNC	HGNC:8821	protein_coding	YES	CCDS72860.1	ENSP00000394485	Q5T2W1		UPI000006D202	NM_002614.4,NM_001201325.1			7/9		PROSITE_profiles:PS50106,hmmpanther:PTHR14191:SF6,hmmpanther:PTHR14191,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	34	145673670	145673670	G	C	1	0	0	0	0	0	1	0	0	11795	1294	45	4		4	PDZK1	1	145673670	Nonsense_Mutation	SNP	G	C3L-02365_TP	25744606	145673670	103282752	27	9503											
GJA8	0	.	GRCh38	chr1	147908622	147908622	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctattcctcaacgtgatgGagttgggccacctgggcctg	6	10	12	13	1	1	1	1	1	0	0	2	2	2	2	5	3	1	1	5	3	2	3	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.667G>T	p.Glu223Ter	p.E223*	ENST00000369235	1/1	402	356	46	317	317	0	strelka-varscan-mutect	GJA8,stop_gained,p.Glu223Ter,ENST00000369235,NM_005267.4;	T	ENST00000369235	Transcript	stop_gained	667/1302	667/1302	223/433	E/*	Gag/Tag		1		1	GJA8	HGNC	HGNC:4281	protein_coding	YES	CCDS30834.1	ENSP00000358238	P48165	X5D7G1	UPI0000049BA0	NM_005267.4			1/1		Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF19,SMART_domains:SM01089,Transmembrane_helices:TMhelix																	HIGH	1	SNV				1										PASS		.	.												T	4	4	34	147908622	147908622	G	T	1	0	0	0	0	0	1	0	0	6284	1175	41	2		2	GJA8	1	147908622	Nonsense_Mutation	SNP	G	C3L-02365_TP	2234952	147908622	101047800	28	9504											
HIST2H2AC	0	.	GRCh38	chr1	149887143	149887143	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctacatggcggcggtcctcGagtacctgaccgccgagatc	7	8	12	14	5	1	2	0	1	1	1	4	4	2	2	4	3	2	1	4	3	2	2			C3L-02365_TP	C3L-02365_NB	G	G																c.169G>C	p.Glu57Gln	p.E57Q	ENST00000331380	1/1	795	520	275	508	508	0	strelka-varscan-mutect	HIST2H2AC,missense_variant,p.Glu57Gln,ENST00000331380,NM_003517.2;HIST2H2BE,upstream_gene_variant,,ENST00000369155,NM_003528.2;BOLA1,upstream_gene_variant,,ENST00000369153,;HIST2H2AB,downstream_gene_variant,,ENST00000331128,NM_175065.2;	C	ENST00000331380	Transcript	missense_variant	169/390	169/390	57/129	E/Q	Gag/Cag	COSM383719	1		1	HIST2H2AC	HGNC	HGNC:4738	protein_coding	YES	CCDS937.1	ENSP00000332194	Q16777		UPI000007478F	NM_003517.2	deleterious_low_confidence(0)		1/1		Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00620,hmmpanther:PTHR23430,SMART_domains:SM00414,Superfamily_domains:SSF47113											1						MODERATE		SNV			1	1										PASS		.	.												C	3	2	34	149887143	149887143	G	C	1	0	0	0	0	1	0	0	0	7066	1059	37	4		4	HIST2H2AC	1	149887143	Missense_Mutation	SNP	G	C3L-02365_TP	1978521	149887143	99069279	29	9505											
IQGAP3	0	.	GRCh38	chr1	156530113	156530113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggttgttaccttggccaGctcgtccactagcccctggt	5	11	10	15	1	0	0	0	0	0	0	2	0	1	0	6	3	3	3	6	3	2	4	rs200332849		C3L-02365_TP	C3L-02365_NB	G	G																c.4396C>A	p.Leu1466Met	p.L1466M	ENST00000361170	34/38	258	128	130	158	158	0	strelka-varscan-mutect	IQGAP3,missense_variant,p.Leu1466Met,ENST00000361170,NM_178229.4;IQGAP3,missense_variant,p.Leu1423Met,ENST00000491900,;	T	ENST00000361170	Transcript	missense_variant	4407/5988	4396/4896	1466/1631	L/M	Ctg/Atg	rs200332849	1		-1	IQGAP3	HGNC	HGNC:20669	protein_coding	YES	CCDS1144.1	ENSP00000354451	Q86VI3		UPI000046FFDD	NM_178229.4	deleterious(0.04)		34/38		hmmpanther:PTHR14149:SF10,hmmpanther:PTHR14149,Pfam_domain:PF03836																	MODERATE	1	SNV	1			1										PASS		rs200332849	.												T	3	4	34	156530113	156530113	G	T	1	0	0	0	0	1	0	0	0	7722	962	34	2		2	IQGAP3	1	156530113	Missense_Mutation	SNP	G	C3L-02365_TP	6642970	156530113	92426309	30	9506											
OR10R2	0	.	GRCh38	chr1	158480016	158480016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgaaattcagctggccCtctttgtagtttttcttttt	5	21	8	7	0	3	1	1	1	2	0	3	1	3	1	1	2	1	3	1	2	2	8	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.139C>A	p.Leu47Ile	p.L47I	ENST00000368152	1/1	338	204	134	298	297	1	strelka-varscan-mutect	OR10R2,missense_variant,p.Leu47Ile,ENST00000368152,NM_001004472.1;RP11-144L1.4,non_coding_transcript_exon_variant,,ENST00000419738,;RP11-144L1.4,intron_variant,,ENST00000426251,;	A	ENST00000368152	Transcript	missense_variant	139/1008	139/1008	47/335	L/I	Ctc/Atc		1		1	OR10R2	HGNC	HGNC:14820	protein_coding	YES	CCDS30898.1	ENSP00000357134	Q8NGX6		UPI000004CA1C	NM_001004472.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF42,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												A	3	1	34	158480016	158480016	C	A	1	0	0	0	0	1	0	0	0	10994	681	24	2		2	OR10R2	1	158480016	Missense_Mutation	SNP	C	C3L-02365_TP	1949903	158480016	90476406	31	9507											
SPTA1	0	.	GRCh38	chr1	158666412	158666412	+	Missense_Mutation	SNP	C	C	A																															taatcctcagaggtgacttgCcactcaacatcctccagcca																										C3L-02365_TP	C3L-02365_NB	C	C																c.2124G>T	p.Trp708Cys	p.W708C	ENST00000368147	16/52	606	545	61	452	451	1	strelka-varscan-mutect	SPTA1,missense_variant,p.Trp708Cys,ENST00000368147,NM_003126.2;	A	ENST00000368147	Transcript	missense_variant	2305/7999	2124/7260	708/2419	W/C	tgG/tgT	COSM4729762	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0.03)		16/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	34	158666412	158666412	C	A	1	0	0	0	0	1	0	0	0	15472	740	26	2		2	SPTA1	1	158666412	Missense_Mutation	SNP	C	C3L-02365_TP	186396	158666412	90290010	32	9508	212	2									
SPTA1	0	.	GRCh38	chr1	158666413	158666413	+	Missense_Mutation	SNP	C	C	A																															aatcctcagaggtgacttgcCactcaacatcctccagccag																								novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2123G>T	p.Trp708Leu	p.W708L	ENST00000368147	16/52	604	542	62	455	453	2	strelka-varscan-mutect	SPTA1,missense_variant,p.Trp708Leu,ENST00000368147,NM_003126.2;	A	ENST00000368147	Transcript	missense_variant	2304/7999	2123/7260	708/2419	W/L	tGg/tTg		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	tolerated(0.28)		16/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		rs1260984585	.												A	3	1	34	158666413	158666413	C	A	1	0	0	0	0	1	0	0	0	15472	595	21	2		2	SPTA1	1	158666413	Missense_Mutation	SNP	C	C3L-02365_TP	1	158666413	90290009	33	9509	212	2									
OR6N1	0	.	GRCh38	chr1	158766292	158766292	+	Missense_Mutation	SNP	G	G	T																															ggtcatgagggttgggtagtGgaggggccggcagatggcta																								rs375461321		C3L-02365_TP	C3L-02365_NB	G	G																c.391C>A	p.His131Asn	p.H131N	ENST00000335094	1/1	281	247	34	227	226	1	strelka-varscan-mutect	OR6N1,missense_variant,p.His131Asn,ENST00000335094,NM_001005185.1;	T	ENST00000335094	Transcript	missense_variant	391/939	391/939	131/312	H/N	Cac/Aac	rs375461321	1		-1	OR6N1	HGNC	HGNC:15034	protein_coding	YES	CCDS30905.1	ENSP00000335535	Q8NGY5		UPI000003FE15	NM_001005185.1	deleterious(0.02)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF123,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs375461321	.												T	3	4	34	158766292	158766292	G	T	1	0	0	0	0	1	0	0	0	11275	1348	47	2		2	OR6N1	1	158766292	Missense_Mutation	SNP	G	C3L-02365_TP	99879	158766292	90190130	34	9510	213	2									
OR6N1	0	.	GRCh38	chr1	158766293	158766293	+	Silent	SNP	G	G	T																															gtcatgagggttgggtagtgGaggggccggcagatggctaa																								rs185614552		C3L-02365_TP	C3L-02365_NB	G	G																c.390C>A	p.=	p.L130L	ENST00000335094	1/1	275	242	33	230	230	0	strelka-varscan-mutect	OR6N1,synonymous_variant,p.=,ENST00000335094,NM_001005185.1;	T	ENST00000335094	Transcript	synonymous_variant	390/939	390/939	130/312	L	ctC/ctA	rs185614552	1		-1	OR6N1	HGNC	HGNC:15034	protein_coding	YES	CCDS30905.1	ENSP00000335535	Q8NGY5		UPI000003FE15	NM_001005185.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF123,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	LOW	1	SNV				1										PASS		rs185614552	.												T	2	4	34	158766293	158766293	G	T	1	0	0	0	0	0	0	0	1	11275	1161	41	2		2	OR6N1	1	158766293	Silent	SNP	G	C3L-02365_TP	1	158766293	90190129	35	9511	213	2									
ATP1A2	0	.	GRCh38	chr1	160127617	160127617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccgcatagctactctcGcctcaggcctggaggttggg	5	9	15	12	2	2	0	1	0	1	0	3	1	2	1	3	5	2	3	3	5	2	3	rs369898494		C3L-02365_TP	C3L-02365_NB	G	G																c.814G>T	p.Ala272Ser	p.A272S	ENST00000361216	8/23	370	316	54	215	215	0	strelka-varscan-mutect	ATP1A2,missense_variant,p.Ala272Ser,ENST00000361216,NM_000702.3;ATP1A2,missense_variant,p.Ala272Ser,ENST00000392233,;ATP1A2,upstream_gene_variant,,ENST00000447527,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,;ATP1A2,downstream_gene_variant,,ENST00000468587,;	T	ENST00000361216	Transcript	missense_variant	903/5421	814/3063	272/1020	A/S	Gcc/Tcc	rs369898494,COSM4995301	1		1	ATP1A2	HGNC	HGNC:800	protein_coding	YES	CCDS1196.1	ENSP00000354490	P50993	A0A0S2Z3W6	UPI0000124FC1	NM_000702.3	deleterious(0.05)		8/23		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF259,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01106,Pfam_domain:PF00122											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs369898494	.												T	3	4	34	160127617	160127617	G	T	1	0	0	0	0	1	0	0	0	1281	1087	38	1		1	ATP1A2	1	160127617	Missense_Mutation	SNP	G	C3L-02365_TP	1361324	160127617	88828805	36	9512											
NIT1	0	.	GRCh38	chr1	161118869	161118869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcaactctcagtactttGtgctcagcccaggtaacacg	10	10	7	14	1	3	0	3	0	1	0	4	0	3	0	2	1	5	3	2	1	3	3	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.86G>C	p.Cys29Ser	p.C29S	ENST00000368009	2/7	431	372	59	266	266	0	strelka-varscan-mutect	NIT1,missense_variant,p.Cys29Ser,ENST00000368008,NM_001185092.1;NIT1,missense_variant,p.Cys29Ser,ENST00000368009,NM_005600.2;NIT1,5_prime_UTR_variant,,ENST00000392190,NM_001185094.1;NIT1,intron_variant,,ENST00000368007,NM_001185093.1;DEDD,downstream_gene_variant,,ENST00000368006,NM_032998.2;DEDD,downstream_gene_variant,,ENST00000545495,NM_001039711.1;DEDD,downstream_gene_variant,,ENST00000458050,NM_001039712.1;DEDD,downstream_gene_variant,,ENST00000490843,;DEDD,downstream_gene_variant,,ENST00000368005,;DEDD,downstream_gene_variant,,ENST00000464113,;PFDN2,upstream_gene_variant,,ENST00000368010,NM_012394.3;NIT1,non_coding_transcript_exon_variant,,ENST00000496861,;NIT1,non_coding_transcript_exon_variant,,ENST00000491497,;NIT1,non_coding_transcript_exon_variant,,ENST00000485594,;NIT1,non_coding_transcript_exon_variant,,ENST00000492411,;NIT1,non_coding_transcript_exon_variant,,ENST00000496768,;NIT1,non_coding_transcript_exon_variant,,ENST00000486962,;NIT1,non_coding_transcript_exon_variant,,ENST00000478277,;NIT1,intron_variant,,ENST00000479266,;NIT1,intron_variant,,ENST00000477684,;NIT1,intron_variant,,ENST00000473918,;DEDD,downstream_gene_variant,,ENST00000489249,;DEDD,downstream_gene_variant,,ENST00000486041,;DEDD,downstream_gene_variant,,ENST00000463227,;DEDD,downstream_gene_variant,,ENST00000496632,;DEDD,downstream_gene_variant,,ENST00000473679,;NIT1,upstream_gene_variant,,ENST00000461376,;NIT1,upstream_gene_variant,,ENST00000479728,;PFDN2,upstream_gene_variant,,ENST00000468311,;DEDD,downstream_gene_variant,,ENST00000472996,;	C	ENST00000368009	Transcript	missense_variant	162/1362	86/984	29/327	C/S	tGt/tCt		1		1	NIT1	HGNC	HGNC:7828	protein_coding	YES	CCDS1218.1	ENSP00000356988	Q86X76		UPI00000715F9	NM_005600.2	tolerated_low_confidence(0.84)		2/7																			MODERATE	1	SNV	1			1										PASS		rs1441353426	.												C	3	2	34	161118869	161118869	G	C	1	0	0	0	0	1	0	0	0	10468	1377	48	4		4	NIT1	1	161118869	Missense_Mutation	SNP	G	C3L-02365_TP	991252	161118869	87837553	37	9513											
ALDH9A1	0	.	GRCh38	chr1	165695335	165695335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattttaaaagcagcctttgCattttgaacagccaaattta	14	15	5	7	0	0	1	0	1	0	0	0	1	0	1	2	0	5	2	2	0	6	8	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.244G>T	p.Ala82Ser	p.A82S	ENST00000354775	2/11	261	224	37	241	241	0	strelka-varscan-mutect	ALDH9A1,missense_variant,p.Ala82Ser,ENST00000354775,NM_000696.3;ALDH9A1,non_coding_transcript_exon_variant,,ENST00000461664,;RP11-466F5.6,upstream_gene_variant,,ENST00000400982,;ALDH9A1,non_coding_transcript_exon_variant,,ENST00000471457,;	A	ENST00000354775	Transcript	missense_variant	549/2696	244/1557	82/518	A/S	Gca/Tca		1		-1	ALDH9A1	HGNC	HGNC:412	protein_coding	YES	CCDS1250.2	ENSP00000346827	P49189	B9EKV4	UPI00003E07DD	NM_000696.3	tolerated(0.07)		2/11		hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF208,Pfam_domain:PF00171,Gene3D:3.40.605.10,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	165695335	165695335	C	A	1	0	0	0	0	1	0	0	0	606	710	25	2		2	ALDH9A1	1	165695335	Missense_Mutation	SNP	C	C3L-02365_TP	4576466	165695335	83261087	38	9514											
F5	0	.	GRCh38	chr1	169524869	169524869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagccttgatctgtgaatcaGatatgataccagtgcttagt	12	13	9	7	0	2	4	1	3	1	1	2	4	2	4	2	0	3	1	2	0	5	4	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.5756C>G	p.Ser1919Cys	p.S1919C	ENST00000367797	19/25	524	468	56	415	415	0	strelka-varscan-mutect	F5,missense_variant,p.Ser1924Cys,ENST00000367796,;F5,missense_variant,p.Ser1919Cys,ENST00000367797,NM_000130.4;	C	ENST00000367797	Transcript	missense_variant	5958/7024	5756/6675	1919/2224	S/C	tCt/tGt		1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4	deleterious(0.05)		19/25		PROSITE_profiles:PS50022,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,Gene3D:2.60.120.260,PIRSF_domain:PIRSF000354,SMART_domains:SM00231,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	169524869	169524869	G	C	1	0	0	0	0	1	0	0	0	5216	942	33	4		4	F5	1	169524869	Missense_Mutation	SNP	G	C3L-02365_TP	3829534	169524869	79431553	39	9515											
F5	0	.	GRCh38	chr1	169550670	169550670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagagttgacttcatcttCataaggcgagaaggtcactc	13	10	10	8	1	4	4	3	1	1	3	5	5	4	4	0	2	0	1	0	2	3	4	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1366G>A	p.Glu456Lys	p.E456K	ENST00000367797	9/25	557	508	49	457	457	0	strelka-varscan-mutect	F5,missense_variant,p.Glu456Lys,ENST00000367796,;F5,missense_variant,p.Glu456Lys,ENST00000367797,NM_000130.4;	T	ENST00000367797	Transcript	missense_variant	1568/7024	1366/6675	456/2224	E/K	Gaa/Aaa		1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4	deleterious(0.02)		9/25		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,PIRSF_domain:PIRSF000354,Gene3D:2.60.40.420,Superfamily_domains:SSF49503																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	169550670	169550670	C	T	1	0	0	0	0	1	0	0	0	5216	835	29	3		3	F5	1	169550670	Missense_Mutation	SNP	C	C3L-02365_TP	25801	169550670	79405752	40	9516											
SERPINC1	0	.	GRCh38	chr1	173909652	173909652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgcggaagcggggcatGtggaccaccagcatcatctc	10	7	12	12	2	3	0	2	0	1	0	4	2	3	2	2	4	3	2	2	4	2	0	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1053C>T	p.=	p.H351H	ENST00000367698	5/7	191	166	25	122	122	0	strelka-varscan-mutect	SERPINC1,synonymous_variant,p.=,ENST00000367698,NM_000488.3;SERPINC1,intron_variant,,ENST00000617423,;SERPINC1,downstream_gene_variant,,ENST00000494024,;SERPINC1,downstream_gene_variant,,ENST00000487183,;	A	ENST00000367698	Transcript	synonymous_variant	1172/1594	1053/1395	351/464	H	caC/caT		1		-1	SERPINC1	HGNC	HGNC:775	protein_coding	YES	CCDS1313.1	ENSP00000356671	P01008	A0A024R944	UPI000002C0C1	NM_000488.3			5/7		hmmpanther:PTHR11461:SF53,hmmpanther:PTHR11461,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	173909652	173909652	G	A	1	0	0	0	0	0	0	0	1	14385	1368	48	3		3	SERPINC1	1	173909652	Silent	SNP	G	C3L-02365_TP	4358982	173909652	75046770	41	9517											
PAPPA2	0	.	GRCh38	chr1	176769633	176769633	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgctcacatgttcttcTgggcactgggaccagaatgt	8	13	10	10	0	4	1	1	0	3	1	4	2	4	2	1	2	1	3	1	2	1	3	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.4350T>A	p.=	p.S1450S	ENST00000367662	16/23	262	219	43	221	221	0	strelka-varscan-mutect	PAPPA2,synonymous_variant,p.=,ENST00000367662,NM_020318.2;	A	ENST00000367662	Transcript	synonymous_variant	5514/9691	4350/5376	1450/1791	S	tcT/tcA		1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2			16/23		hmmpanther:PTHR19325:SF1,hmmpanther:PTHR19325,SMART_domains:SM00032																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	176769633	176769633	T	A	1	0	0	0	0	0	0	0	1	11513	1567	55	4		4	PAPPA2	1	176769633	Silent	SNP	T	C3L-02365_TP	2859981	176769633	72186789	42	9518											
CACNA1E	0	.	GRCh38	chr1	181733534	181733534	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccatcctgagctggaagtgGggaagcacgtggtgctgacg	8	7	16	10	2	0	2	0	2	0	0	1	4	1	4	2	4	3	3	2	4	2	0	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.3046G>C	p.Gly1016Arg	p.G1016R	ENST00000367573	21/48	94	76	18	63	63	0	strelka-varscan-mutect	CACNA1E,missense_variant,p.Gly997Arg,ENST00000621791,NM_001205294.1;CACNA1E,missense_variant,p.Gly1016Arg,ENST00000621551,;CACNA1E,missense_variant,p.Gly1016Arg,ENST00000367567,;CACNA1E,missense_variant,p.Gly997Arg,ENST00000358338,;CACNA1E,missense_variant,p.Gly1016Arg,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Gly1016Arg,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Gly1015Arg,ENST00000357570,;CACNA1E,missense_variant,p.Gly997Arg,ENST00000360108,;	C	ENST00000367573	Transcript	missense_variant	3046/7067	3046/6942	1016/2313	G/R	Ggg/Cgg		1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1	tolerated(0.36)		21/48																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	181733534	181733534	G	C	1	0	0	0	0	1	0	0	0	2230	1232	43	4		4	CACNA1E	1	181733534	Missense_Mutation	SNP	G	C3L-02365_TP	4963901	181733534	67222888	43	9519											
TNNI1	0	.	GRCh38	chr1	201411457	201411457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccggagcatggcgtcagccGagacacggactcgacgcagg	9	3	15	14	6	1	1	1	0	0	1	2	5	1	3	2	4	2	2	2	4	0	0	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.356C>T	p.Ser119Leu	p.S119L	ENST00000361379	7/9	289	270	19	175	175	0	strelka-varscan-mutect	TNNI1,missense_variant,p.Ser119Leu,ENST00000622580,;TNNI1,missense_variant,p.Ser119Leu,ENST00000361379,NM_003281.3;TNNI1,missense_variant,p.Ser119Leu,ENST00000336092,;TNNI1,missense_variant,p.Ser119Leu,ENST00000367312,;TNNI1,missense_variant,p.Ser119Leu,ENST00000556362,;TNNI1,missense_variant,p.Ser98Leu,ENST00000555340,;TNNI1,intron_variant,,ENST00000555948,;	A	ENST00000361379	Transcript	missense_variant	449/5413	356/564	119/187	S/L	tCg/tTg		1		-1	TNNI1	HGNC	HGNC:11945	protein_coding	YES	CCDS1411.1	ENSP00000354488	P19237		UPI0000000CCA	NM_003281.3	deleterious(0)		7/9		hmmpanther:PTHR13738:SF9,hmmpanther:PTHR13738,Pfam_domain:PF00992,Gene3D:1.20.5.350,Superfamily_domains:SSF90250																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	34	201411457	201411457	G	A	1	0	0	0	0	1	0	0	0	16799	1059	37	1		1	TNNI1	1	201411457	Missense_Mutation	SNP	G	C3L-02365_TP	19677923	201411457	47544965	44	9520											
ELF3	0	.	GRCh38	chr1	202015290	202015290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaaaaactcaagcggctgGaaggaggaagaggttctcca	14	5	14	8	1	2	1	1	0	1	1	3	4	2	4	1	6	2	3	1	6	5	1			C3L-02365_TP	C3L-02365_NB	G	G																c.1083G>T	p.Trp361Cys	p.W361C	ENST00000359651	8/8	312	192	120	228	228	0	strelka-varscan-mutect	ELF3,missense_variant,p.Trp361Cys,ENST00000359651,;ELF3,missense_variant,p.Trp361Cys,ENST00000367284,NM_001114309.1,NM_004433.4;ELF3,missense_variant,p.Trp361Cys,ENST00000367283,;ELF3,downstream_gene_variant,,ENST00000446188,;RP11-510N19.5,non_coding_transcript_exon_variant,,ENST00000504773,;RP11-465N4.4,upstream_gene_variant,,ENST00000419190,;ELF3,non_coding_transcript_exon_variant,,ENST00000475698,;ELF3,downstream_gene_variant,,ENST00000495848,;ELF3,downstream_gene_variant,,ENST00000490203,;ELF3,downstream_gene_variant,,ENST00000498017,;ELF3,downstream_gene_variant,,ENST00000470384,;ELF3,downstream_gene_variant,,ENST00000479874,;	T	ENST00000359651	Transcript	missense_variant	4275/4994	1083/1116	361/371	W/C	tgG/tgT	COSM4841865,COSM4841866	1		1	ELF3	HGNC	HGNC:3318	protein_coding	YES	CCDS1419.1	ENSP00000352673	P78545	A0A024R974	UPI0000034E32		deleterious(0)		8/8		hmmpanther:PTHR11849:SF13,hmmpanther:PTHR11849,Gene3D:1.10.10.10,Superfamily_domains:SSF46785											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	34	202015290	202015290	G	T	1	0	0	0	0	1	0	0	0	4888	1183	41	2		2	ELF3	1	202015290	Missense_Mutation	SNP	G	C3L-02365_TP	603833	202015290	46941132	45	9521											
MYOG	0	.	GRCh38	chr1	203083945	203083945	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctgggaaggccacagAcacatcttccactgtgatgc	10	10	9	12	0	3	2	1	1	2	1	4	3	4	3	2	2	1	0	2	2	1	2	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.640T>A	p.Ser214Thr	p.S214T	ENST00000241651	3/3	275	187	88	227	227	0	strelka-varscan-mutect	MYOG,missense_variant,p.Ser214Thr,ENST00000241651,NM_002479.5;	T	ENST00000241651	Transcript	missense_variant	715/1528	640/675	214/224	S/T	Tct/Act		1		-1	MYOG	HGNC	HGNC:7612	protein_coding	YES	CCDS1433.1	ENSP00000241651	P15173		UPI000012FBA4	NM_002479.5	tolerated(0.37)		3/3		hmmpanther:PTHR11534:SF5,hmmpanther:PTHR11534																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	203083945	203083945	A	T	1	0	0	0	0	1	0	0	0	10091	275	10	4		4	MYOG	1	203083945	Missense_Mutation	SNP	A	C3L-02365_TP	1068655	203083945	45872477	46	9522											
INTS7	0	.	GRCh38	chr1	212021201	212021201	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgttcaccaagtttgcCagatcttaggcctatggaaa	12	11	8	10	0	2	1	1	0	1	1	2	2	2	2	3	2	1	2	3	2	4	4	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.106G>T	p.Gly36Cys	p.G36C	ENST00000366994	2/20	157	97	60	139	139	0	strelka-varscan-mutect	INTS7,missense_variant,p.Gly36Cys,ENST00000366994,NM_015434.3;INTS7,missense_variant,p.Gly36Cys,ENST00000366993,NM_001199811.1;INTS7,missense_variant,p.Gly36Cys,ENST00000366992,NM_001199812.1;INTS7,missense_variant,p.Gly36Cys,ENST00000440600,NM_001199809.1;SNORA26,upstream_gene_variant,,ENST00000390885,;INTS7,missense_variant,p.Gly36Cys,ENST00000469606,;INTS7,3_prime_UTR_variant,,ENST00000619805,;	A	ENST00000366994	Transcript	missense_variant	211/4417	106/2889	36/962	G/C	Ggc/Tgc		1		-1	INTS7	HGNC	HGNC:24484	protein_coding	YES	CCDS1501.1	ENSP00000355961	Q9NVH2		UPI000006FE2E	NM_015434.3	tolerated(0.08)		2/20		hmmpanther:PTHR13322,hmmpanther:PTHR13322:SF2,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	212021201	212021201	C	A	1	0	0	0	0	1	0	0	0	7686	594	21	2		2	INTS7	1	212021201	Missense_Mutation	SNP	C	C3L-02365_TP	8937256	212021201	36935221	47	9523											
USH2A	0	.	GRCh38	chr1	216247046	216247046	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacatctaacccataaaagTtttctctgcaggtgtcacac	12	12	6	11	0	3	1	1	1	2	0	4	1	3	1	1	1	2	2	1	1	3	4			C3L-02365_TP	C3L-02365_NB	T	T																c.2348A>C	p.Asn783Thr	p.N783T	ENST00000307340	13/72	269	254	15	283	283	0	strelka-varscan-mutect	USH2A,missense_variant,p.Asn783Thr,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Asn783Thr,ENST00000366942,NM_007123.5;	G	ENST00000307340	Transcript	missense_variant	2735/18883	2348/15609	783/5202	N/T	aAc/aCc	COSM4028216,COSM4028217,COSM4028218,COSM5036935,COSM5036936,COSM5036937	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0.03)		13/72		Gene3D:2.10.25.10,Pfam_domain:PF00053,Prints_domain:PR00011,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00180,Superfamily_domains:SSF57196											1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1	1										PASS		rs1224180395	.												G	3	3	34	216247046	216247046	T	G	1	0	0	0	0	1	0	0	0	17570	1725	60	5		5	USH2A	1	216247046	Missense_Mutation	SNP	T	C3L-02365_TP	4225845	216247046	32709376	48	9524											
SPATA17	0	.	GRCh38	chr1	217801783	217801783	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaatgcatttatcaagcaAgtatggtcctatttcttaca	13	15	5	8	0	3	0	2	0	1	0	4	0	4	0	1	1	3	3	1	1	7	6	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.938A>C	p.Lys313Thr	p.K313T	ENST00000366933	9/11	232	220	12	216	216	0	strelka-varscan-mutect	SPATA17,missense_variant,p.Lys313Thr,ENST00000366933,NM_138796.3;SPATA17,non_coding_transcript_exon_variant,,ENST00000471021,;SPATA17,downstream_gene_variant,,ENST00000492747,;	C	ENST00000366933	Transcript	missense_variant	993/5818	938/1086	313/361	K/T	aAg/aCg		1		1	SPATA17	HGNC	HGNC:25184	protein_coding	YES	CCDS1519.1	ENSP00000355900	Q96L03		UPI00000717C2	NM_138796.3	deleterious(0.02)		9/11		hmmpanther:PTHR22706																	MODERATE	1	SNV	1			1										PASS		rs1184733319	.												C	3	2	34	217801783	217801783	A	C	1	0	0	0	0	1	0	0	0	15332	72	3	5		5	SPATA17	1	217801783	Missense_Mutation	SNP	A	C3L-02365_TP	1554737	217801783	31154639	49	9525											
MIA3	0	.	GRCh38	chr1	222629457	222629457	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaacggtctaaagaaaaaaAccctgggaatcagggcaggc	18	4	11	8	1	2	1	1	0	1	1	2	2	2	2	1	4	2	1	1	4	8	1	rs767277066		C3L-02365_TP	C3L-02365_NB	A	A																c.2237A>T	p.Asn746Ile	p.N746I	ENST00000344922	4/28	310	162	148	277	277	0	strelka-varscan-mutect	MIA3,missense_variant,p.Asn746Ile,ENST00000344922,NM_001324064.1,NM_198551.3;MIA3,missense_variant,p.Asn329Ile,ENST00000354906,;MIA3,intron_variant,,ENST00000344507,;MIA3,non_coding_transcript_exon_variant,,ENST00000470521,;	T	ENST00000344922	Transcript	missense_variant	2262/8142	2237/5724	746/1907	N/I	aAc/aTc	rs767277066	1		1	MIA3	HGNC	HGNC:24008	protein_coding	YES	CCDS41470.1	ENSP00000340900	Q5JRA6		UPI00001D75B3	NM_001324064.1,NM_198551.3	tolerated(0.42)		4/28		hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF37																	MODERATE	1	SNV	5			1										PASS		rs767277066	.												T	3	4	34	222629457	222629457	A	T	1	0	0	0	0	1	0	0	0	9522	43	2	4		4	MIA3	1	222629457	Missense_Mutation	SNP	A	C3L-02365_TP	4827674	222629457	26326965	50	9526											
ITPKB	0	.	GRCh38	chr1	226736143	226736143	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctccactctgtcggagAgctgccaacgccccccgccc	5	6	8	22	3	1	1	0	0	1	1	4	2	3	1	7	1	3	1	7	1	1	0	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.1316T>C	p.Leu439Pro	p.L439P	ENST00000429204	2/8	58	34	24	46	46	0	strelka-varscan-mutect	ITPKB,missense_variant,p.Leu439Pro,ENST00000429204,NM_002221.3;ITPKB,missense_variant,p.Leu439Pro,ENST00000272117,;ITPKB,missense_variant,p.Leu439Pro,ENST00000366784,;	G	ENST00000429204	Transcript	missense_variant	1656/6162	1316/2841	439/946	L/P	cTc/cCc		1		-1	ITPKB	HGNC	HGNC:6179	protein_coding	YES	CCDS1555.1	ENSP00000411152	P27987		UPI000013D92B	NM_002221.3	tolerated_low_confidence(0.29)		2/8																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	34	226736143	226736143	A	G	1	0	0	0	0	1	0	0	0	7824	304	11	5		5	ITPKB	1	226736143	Missense_Mutation	SNP	A	C3L-02365_TP	4106686	226736143	22220279	51	9527											
OBSCN	0	.	GRCh38	chr1	228337943	228337943	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccccatccctctctcaGatctttgacatctacgtggt	7	12	6	16	1	4	2	1	1	3	1	6	2	5	2	3	1	1	1	3	1	1	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.19672-1G>T		p.X6558_splice	ENST00000570156		175	116	59	107	107	0	strelka-varscan-mutect	OBSCN,splice_acceptor_variant,,ENST00000570156,NM_001271223.2;OBSCN,splice_acceptor_variant,,ENST00000366707,;OBSCN,splice_acceptor_variant,,ENST00000422127,NM_001098623.2;OBSCN,splice_acceptor_variant,,ENST00000636875,;OBSCN,splice_acceptor_variant,,ENST00000284548,NM_052843.3;OBSCN,splice_acceptor_variant,,ENST00000636476,;OBSCN,intron_variant,,ENST00000483539,;	T	ENST00000570156	Transcript	splice_acceptor_variant	-/26925	19672/26772	6558/8923				1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2				77/115																		HIGH	1	SNV	5			1										PASS		rs1379549414	.												T	5	4	34	228337943	228337943	G	T	1	0	0	0	0	0	0	1	0	10889	956	33	2		2	OBSCN	1	228337943	Splice_Site	SNP	G	C3L-02365_TP	1601800	228337943	20618479	52	9528											
LYST	0	.	GRCh38	chr1	235806411	235806411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactctgcttctttacttaCgcataaaaaagccacacaga	15	10	5	11	1	2	2	0	0	2	2	2	2	2	2	1	0	4	2	1	0	5	5	rs146335682		C3L-02365_TP	C3L-02365_NB	C	C																c.2725G>T	p.Val909Leu	p.V909L	ENST00000389793	6/53	573	382	191	539	539	0	strelka-varscan-mutect	LYST,missense_variant,p.Val909Leu,ENST00000389793,NM_000081.3,NM_001301365.1;LYST,missense_variant,p.Val909Leu,ENST00000389794,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;LYST,non_coding_transcript_exon_variant,,ENST00000465349,;	A	ENST00000389793	Transcript	missense_variant	2900/13480	2725/11406	909/3801	V/L	Gta/Tta	rs146335682,COSM5571994	1		-1	LYST	HGNC	HGNC:1968	protein_coding	YES	CCDS31062.1	ENSP00000374443	Q99698		UPI000020509E	NM_000081.3,NM_001301365.1	deleterious_low_confidence(0)		6/53													0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs146335682	.												A	3	1	34	235806411	235806411	C	A	1	0	0	0	0	1	0	0	0	9041	536	19	1		1	LYST	1	235806411	Missense_Mutation	SNP	C	C3L-02365_TP	7468468	235806411	13150011	53	9529											
ACTN2	0	.	GRCh38	chr1	236727704	236727704	+	Missense_Mutation	SNP	C	C	A																															agatggccttggactctgtgCcctcatccaccgacaccggc																								novel		C3L-02365_TP	C3L-02365_NB	C	C																c.563C>A	p.Ala188Asp	p.A188D	ENST00000542672	6/21	484	430	54	451	450	1	strelka-varscan-mutect	ACTN2,missense_variant,p.Ala188Asp,ENST00000542672,NM_001278343.1;ACTN2,missense_variant,p.Ala188Asp,ENST00000366578,NM_001103.3;ACTN2,5_prime_UTR_variant,,ENST00000546208,NM_001278344.1;ACTN2,non_coding_transcript_exon_variant,,ENST00000492634,;	A	ENST00000542672	Transcript	missense_variant	783/4906	563/2685	188/894	A/D	gCc/gAc		1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1	deleterious(0)		6/21		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	236727704	236727704	C	A	1	0	0	0	0	1	0	0	0	249	739	26	2		2	ACTN2	1	236727704	Missense_Mutation	SNP	C	C3L-02365_TP	921293	236727704	12228718	54	9530	214	2									
ACTN2	0	.	GRCh38	chr1	236727705	236727705	+	Silent	SNP	C	C	A																															gatggccttggactctgtgcCctcatccaccgacaccggcc																								rs769536954		C3L-02365_TP	C3L-02365_NB	C	C																c.564C>A	p.=	p.A188A	ENST00000542672	6/21	485	432	53	450	448	2	strelka-varscan-mutect	ACTN2,synonymous_variant,p.=,ENST00000542672,NM_001278343.1;ACTN2,synonymous_variant,p.=,ENST00000366578,NM_001103.3;ACTN2,5_prime_UTR_variant,,ENST00000546208,NM_001278344.1;ACTN2,non_coding_transcript_exon_variant,,ENST00000492634,;	A	ENST00000542672	Transcript	synonymous_variant	784/4906	564/2685	188/894	A	gcC/gcA	rs769536954	1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1			6/21		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,SMART_domains:SM00033,Superfamily_domains:SSF47576																	LOW	1	SNV	1			1										PASS		rs769536954	.												A	2	1	34	236727705	236727705	C	A	1	0	0	0	0	0	0	0	1	249	610	22	2		2	ACTN2	1	236727705	Silent	SNP	C	C3L-02365_TP	1	236727705	12228717	55	9531	214	2									
FMN2	0	.	GRCh38	chr1	240207252	240207252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcacagcctccaccacctCcatcccttctgtggtctgct	5	12	5	19	0	3	0	1	0	3	0	7	0	6	0	6	1	2	1	6	1	0	1	rs757908642		C3L-02365_TP	C3L-02365_NB	C	C																c.2440C>A	p.Pro814Thr	p.P814T	ENST00000319653	5/18	337	202	135	261	261	0	strelka-varscan-mutect	FMN2,missense_variant,p.Pro814Thr,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;	A	ENST00000319653	Transcript	missense_variant	2670/6434	2440/5169	814/1722	P/T	Cca/Aca	rs757908642,COSM1473669,COSM334276	1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4	tolerated_low_confidence(0.31)		5/18		Low_complexity_(Seg):seg,SMART_domains:SM00498											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs757908642	.												A	3	1	34	240207252	240207252	C	A	1	0	0	0	0	1	0	0	0	5806	855	30	2		2	FMN2	1	240207252	Missense_Mutation	SNP	C	C3L-02365_TP	3479547	240207252	8749170	56	9532											
FMN2	0	.	GRCh38	chr1	240207609	240207609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacccggagcaggcatactcCctctgccccctctacccgga	7	7	8	19	2	2	0	0	0	2	0	3	2	3	2	5	3	5	2	5	3	3	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2797C>A	p.Pro933Thr	p.P933T	ENST00000319653	5/18	248	219	29	172	172	0	strelka-varscan-mutect	FMN2,missense_variant,p.Pro933Thr,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;	A	ENST00000319653	Transcript	missense_variant	3027/6434	2797/5169	933/1722	P/T	Cct/Act		1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4	deleterious_low_confidence(0.01)		5/18		Pfam_domain:PF06346,Low_complexity_(Seg):seg,SMART_domains:SM00498																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	34	240207609	240207609	C	A	1	0	0	0	0	1	0	0	0	5806	623	22	2		2	FMN2	1	240207609	Missense_Mutation	SNP	C	C3L-02365_TP	357	240207609	8748813	57	9533											
NLRP3	0	.	GRCh38	chr1	247425190	247425190	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacgtttcctctttggcCtggtaaaccaggagaggacc	8	12	11	10	1	1	1	0	0	1	1	2	3	2	2	4	4	2	3	4	4	3	5	rs756111783		C3L-02365_TP	C3L-02365_NB	C	C																c.1747C>G	p.Leu583Val	p.L583V	ENST00000336119	3/9	1544	1392	152	802	801	1	strelka-varscan-mutect	NLRP3,missense_variant,p.Leu583Val,ENST00000366497,NM_001127461.2;NLRP3,missense_variant,p.Leu583Val,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,missense_variant,p.Leu583Val,ENST00000366496,;NLRP3,missense_variant,p.Leu583Val,ENST00000391828,NM_001079821.2;NLRP3,missense_variant,p.Leu583Val,ENST00000348069,NM_183395.2;NLRP3,missense_variant,p.Leu583Val,ENST00000391827,NM_001127462.2;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	G	ENST00000336119	Transcript	missense_variant	2493/4170	1747/3111	583/1036	L/V	Ctg/Gtg	rs756111783	1		1	NLRP3	HGNC	HGNC:16400	protein_coding	YES	CCDS1632.1	ENSP00000337383	Q96P20		UPI00001CE3AD	NM_004895.4,NM_001243133.1	deleterious(0)		3/9		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4																	MODERATE	1	SNV	1			1										PASS		rs756111783	.												G	3	3	34	247425190	247425190	C	G	1	0	0	0	0	1	0	0	0	10516	680	24	4		4	NLRP3	1	247425190	Missense_Mutation	SNP	C	C3L-02365_TP	7217581	247425190	1531232	58	9534											
OR2M2	0	.	GRCh38	chr1	248180613	248180613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtatagtaatgcttgttttcCctgttgcaatcatcattgct	8	18	7	8	0	2	0	2	0	0	0	3	0	3	0	1	0	3	7	1	0	4	8			C3L-02365_TP	C3L-02365_NB	C	C																c.628C>A	p.Pro210Thr	p.P210T	ENST00000359682	1/1	858	351	507	542	541	1	strelka-varscan-mutect	OR2M2,missense_variant,p.Pro210Thr,ENST00000359682,NM_001004688.1;	A	ENST00000359682	Transcript	missense_variant	628/1044	628/1044	210/347	P/T	Cct/Act	COSM3487017	1		1	OR2M2	HGNC	HGNC:8268	protein_coding	YES	CCDS31106.1	ENSP00000352710	Q96R28	A0A126GWI7	UPI00001612E4	NM_001004688.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF28,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	34	248180613	248180613	C	A	1	0	0	0	0	1	0	0	0	11088	623	22	2		2	OR2M2	1	248180613	Missense_Mutation	SNP	C	C3L-02365_TP	755423	248180613	775809	59	9535											
OR2T1	0	.	GRCh38	chr1	248406360	248406360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttccttaattgacatgatGtatatttccactattgtgcc	9	18	5	9	0	0	2	0	2	0	0	2	2	2	2	3	0	1	1	3	0	4	8	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.366G>A	p.Met122Ile	p.M122I	ENST00000366474	1/1	379	326	53	271	271	0	strelka-varscan-mutect	OR2T1,missense_variant,p.Met122Ile,ENST00000366474,NM_030904.1;	A	ENST00000366474	Transcript	missense_variant	366/1110	366/1110	122/369	M/I	atG/atA		1		1	OR2T1	HGNC	HGNC:8277	protein_coding	YES	CCDS31115.1	ENSP00000355430	O43869	A0A126GVY3	UPI00003B2872	NM_030904.1	tolerated(0.06)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF125,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	34	248406360	248406360	G	A	1	0	0	0	0	1	0	0	0	11094	1377	48	3		3	OR2T1	1	248406360	Missense_Mutation	SNP	G	C3L-02365_TP	225747	248406360	550062	60	9536											
OR2T2	0	.	GRCh38	chr1	248453121	248453121	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcctctacctgaccctGattggaggggaattcttcct	7	14	8	12	0	3	2	0	2	3	0	5	4	5	4	4	3	1	0	4	3	2	5			C3L-02365_TP	C3L-02365_NB	G	G																c.324G>T	p.=	p.L108L	ENST00000342927	1/1	1778	1687	91	976	976	0	varscan-mutect	OR2T2,synonymous_variant,p.=,ENST00000342927,NM_001004136.1;	T	ENST00000342927	Transcript	synonymous_variant	324/975	324/975	108/324	L	ctG/ctT	COSM401013	1		1	OR2T2	HGNC	HGNC:14725	protein_coding	YES	CCDS31116.1	ENSP00000343062	Q6IF00		UPI0000048DB0	NM_001004136.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	34	248453121	248453121	G	T	1	0	0	0	0	0	0	0	1	11097	1277	45	2		2	OR2T2	1	248453121	Silent	SNP	G	C3L-02365_TP	46761	248453121	503301	61	9537											
OR2T10	0	.	GRCh38	chr1	248593490	248593490	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgccacacccaaggacCgagatggtcttgtctttggc	7	10	13	11	1	2	1	0	0	2	1	2	3	2	2	3	4	1	0	3	4	1	2	rs61743160		C3L-02365_TP	C3L-02365_NB	C	C																c.279G>T	p.=	p.S93S	ENST00000330500	1/1	560	403	157	342	342	0	strelka-varscan-mutect	OR2T10,synonymous_variant,p.=,ENST00000330500,NM_001004693.1;Y_RNA,downstream_gene_variant,,ENST00000364732,;	A	ENST00000330500	Transcript	synonymous_variant	279/939	279/939	93/312	S	tcG/tcT	rs61743160,COSM1341187,COSM5335900	1		-1	OR2T10	HGNC	HGNC:19573	protein_coding	YES	CCDS31121.1	ENSP00000329210	Q8NGZ9	A0A126GV79	UPI000004F23B	NM_001004693.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF101,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245											0,1,1						LOW	1	SNV			0,1,1	1										PASS		rs61743160	.												A	2	1	34	248593490	248593490	C	A	1	0	0	0	0	0	0	0	1	11095	639	23	1		1	OR2T10	1	248593490	Silent	SNP	C	C3L-02365_TP	140369	248593490	362932	62	9538											
XDH	0	.	GRCh38	chr2	31348928	31348928	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaggaactgtaaagcttaTtccaaacttggtgggaatta	16	11	9	5	0	0	0	0	0	0	0	1	2	1	2	1	3	3	2	1	3	9	5	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.3022A>T	p.Ile1008Leu	p.I1008L	ENST00000379416	27/36	372	203	169	397	397	0	strelka-varscan-mutect	XDH,missense_variant,p.Ile1008Leu,ENST00000379416,NM_000379.3;	A	ENST00000379416	Transcript	missense_variant	3071/5688	3022/4002	1008/1333	I/L	Ata/Tta		1		-1	XDH	HGNC	HGNC:12805	protein_coding	YES	CCDS1775.1	ENSP00000368727	P47989		UPI0000036BC9	NM_000379.3	deleterious(0)		27/36		hmmpanther:PTHR11908,hmmpanther:PTHR11908:SF78,Gene3D:3.30.365.10,PIRSF_domain:PIRSF000127,Pfam_domain:PF02738,Superfamily_domains:SSF56003																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	31348928	31348928	T	A	1	0	0	0	0	1	0	0	0	17985	1493	52	4		4	XDH	2	31348928	Missense_Mutation	SNP	T	C3L-02365_TP		31348928	210844601	63	9539											
CRIM1	0	.	GRCh38	chr2	36544375	36544375	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaatgttcccttcttttaGaaatgtatgtcccagaacca	14	13	5	9	0	1	2	0	0	1	2	3	2	3	2	3	0	1	2	3	0	6	5	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.2624-1G>C		p.X875_splice	ENST00000280527		27	16	11	19	19	0	strelka-varscan-mutect	CRIM1,splice_acceptor_variant,,ENST00000280527,NM_016441.2;FEZ2,intron_variant,,ENST00000406220,;	C	ENST00000280527	Transcript	splice_acceptor_variant	-/5912	2624/3111	875/1036				1		1	CRIM1	HGNC	HGNC:2359	protein_coding	YES	CCDS1783.1	ENSP00000280527	Q9NZV1		UPI000004C628	NM_016441.2				14/16																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	34	36544375	36544375	G	C	1	0	0	0	0	0	0	1	0	3674	956	33	4		4	CRIM1	2	36544375	Splice_Site	SNP	G	C3L-02365_TP	5195447	36544375	205649154	64	9540											
SPRED2	0	.	GRCh38	chr2	65313868	65313868	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctccttccgccgccgcGacttgccccgggagggctgc	2	7	13	19	6	0	0	0	0	0	0	3	2	3	1	7	2	2	1	7	2	0	2			C3L-02365_TP	C3L-02365_NB	G	G																c.890C>A	p.Ser297Ter	p.S297*	ENST00000356388	6/6	192	77	115	154	153	1	strelka-varscan-mutect	SPRED2,stop_gained,p.Ser297Ter,ENST00000356388,NM_181784.2;SPRED2,stop_gained,p.Ser294Ter,ENST00000443619,NM_001128210.1;SPRED2,stop_gained,p.Ser312Ter,ENST00000452315,;SPRED2,stop_gained,p.Ser179Ter,ENST00000421087,;SPRED2,downstream_gene_variant,,ENST00000474228,;	T	ENST00000356388	Transcript	stop_gained	1080/4097	890/1257	297/418	S/*	tCg/tAg	COSM263852	1		-1	SPRED2	HGNC	HGNC:17722	protein_coding	YES	CCDS33211.1	ENSP00000348753	Q7Z698		UPI000013E7B4	NM_181784.2			6/6		hmmpanther:PTHR11202,hmmpanther:PTHR11202:SF11											1						HIGH	1	SNV	1		1	1										PASS		rs1308584438	.												T	4	4	34	65313868	65313868	G	T	1	0	0	0	0	0	1	0	0	15447	1059	37	1		1	SPRED2	2	65313868	Nonsense_Mutation	SNP	G	C3L-02365_TP	28769493	65313868	176879661	65	9541											
RAB11FIP5	0	.	GRCh38	chr2	73088954	73088954	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccaggtccctggtaggccaAgctcccgctggctgaggaca	7	6	14	14	1	0	1	0	1	0	0	2	2	2	2	4	5	1	4	4	5	2	1	rs775637400		C3L-02365_TP	C3L-02365_NB	A	A																c.793T>G	p.Leu265Val	p.L265V	ENST00000258098	2/5	159	139	20	109	109	0	strelka-varscan-mutect	RAB11FIP5,missense_variant,p.Leu265Val,ENST00000486777,;RAB11FIP5,missense_variant,p.Leu265Val,ENST00000258098,NM_015470.2;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000493523,;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000475951,;RAB11FIP5,upstream_gene_variant,,ENST00000482554,;RAB11FIP5,upstream_gene_variant,,ENST00000479196,;	C	ENST00000258098	Transcript	missense_variant	1034/4342	793/1962	265/653	L/V	Ttg/Gtg	rs775637400	1		-1	RAB11FIP5	HGNC	HGNC:24845	protein_coding	YES	CCDS1923.1	ENSP00000258098	Q9BXF6		UPI000007079C	NM_015470.2	tolerated(0.47)		2/5		Low_complexity_(Seg):seg,hmmpanther:PTHR15746:SF14,hmmpanther:PTHR15746																	MODERATE	1	SNV	1			1										PASS		rs775637400	.												C	3	2	34	73088954	73088954	A	C	1	0	0	0	0	1	0	0	0	13055	69	3	5		5	RAB11FIP5	2	73088954	Missense_Mutation	SNP	A	C3L-02365_TP	7775086	73088954	169104575	66	9542											
LRRTM1	0	.	GRCh38	chr2	80302635	80302635	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcccctccccgccgtcCgcgagcgtggtggccgagct	2	7	14	18	6	0	0	0	0	0	0	2	2	2	0	7	2	4	2	7	2	0	0			C3L-02365_TP	C3L-02365_NB	C	C																c.1185G>T	p.=	p.A395A	ENST00000295057	2/2	167	87	80	146	146	0	strelka-varscan-mutect	LRRTM1,synonymous_variant,p.=,ENST00000295057,;LRRTM1,synonymous_variant,p.=,ENST00000409148,NM_178839.4;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.2;CTNNA2,intron_variant,,ENST00000629316,NM_001164883.1;CTNNA2,upstream_gene_variant,,ENST00000541047,NM_001282600.1;LRRTM1,downstream_gene_variant,,ENST00000416268,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000415098,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,synonymous_variant,p.=,ENST00000433224,;LRRTM1,synonymous_variant,p.=,ENST00000417012,;	A	ENST00000295057	Transcript	synonymous_variant	1842/2599	1185/1569	395/522	A	gcG/gcT	COSM3840104,COSM3840105	1		-1	LRRTM1	HGNC	HGNC:19408	protein_coding	YES	CCDS1966.1	ENSP00000295057	Q86UE6		UPI000013E1FE				2/2		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1191816698	.												A	2	1	34	80302635	80302635	C	A	1	0	0	0	0	0	0	0	1	8945	639	23	1		1	LRRTM1	2	80302635	Silent	SNP	C	C3L-02365_TP	7213681	80302635	161890894	67	9543											
DNAH6	0	.	GRCh38	chr2	84640562	84640562	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgagagctgtgaagtctGtcctggtcatggctgggtaa	8	11	15	7	0	2	2	1	2	1	1	3	3	3	2	1	3	1	4	1	3	2	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.4954G>C	p.Val1652Leu	p.V1652L	ENST00000389394	32/77	117	71	46	126	126	0	strelka-mutect	DNAH6,missense_variant,p.Val1652Leu,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Val1652Leu,ENST00000237449,;	C	ENST00000389394	Transcript	missense_variant	5091/12795	4954/12477	1652/4158	V/L	Gtc/Ctc		1		1	DNAH6	HGNC	HGNC:2951	protein_coding	YES	CCDS46348.1	ENSP00000374045	Q9C0G6		UPI000163AC9D	NM_001370.1	deleterious(0)		32/77		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136,Pfam_domain:PF12774,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	34	84640562	84640562	G	C	1	0	0	0	0	1	0	0	0	4420	1377	48	4		4	DNAH6	2	84640562	Missense_Mutation	SNP	G	C3L-02365_TP	4337927	84640562	157552967	68	9544											
DNAH6	0	.	GRCh38	chr2	84745165	84745165	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacacatgagacaggaaaaGgaggcagcacaccaagatcc	19	2	10	10	0	0	2	0	1	0	2	1	5	1	4	2	3	2	2	2	3	4	0	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.10428G>C	p.Lys3476Asn	p.K3476N	ENST00000389394	63/77	231	166	65	212	212	0	strelka-varscan-mutect	DNAH6,missense_variant,p.Lys3476Asn,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Lys3476Asn,ENST00000237449,;	C	ENST00000389394	Transcript	missense_variant	10565/12795	10428/12477	3476/4158	K/N	aaG/aaC		1		1	DNAH6	HGNC	HGNC:2951	protein_coding	YES	CCDS46348.1	ENSP00000374045	Q9C0G6		UPI000163AC9D	NM_001370.1	tolerated(0.36)		63/77		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136,Pfam_domain:PF03028																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	34	84745165	84745165	G	C	1	0	0	0	0	1	0	0	0	4420	991	35	4		4	DNAH6	2	84745165	Missense_Mutation	SNP	G	C3L-02365_TP	104603	84745165	157448364	69	9545											
ST6GAL2	0	.	GRCh38	chr2	106806709	106806709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgactggacttggtgcaGggcagtgcaccgcctggaag	9	7	16	9	1	0	1	0	1	0	0	0	4	0	3	2	4	2	3	2	4	2	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1559C>T	p.Pro520Leu	p.P520L	ENST00000409382	6/6	233	203	30	161	161	0	strelka-varscan-mutect	ST6GAL2,missense_variant,p.Pro520Leu,ENST00000409382,NM_001142351.1;ST6GAL2,missense_variant,p.Pro520Leu,ENST00000361686,NM_001322362.1,NM_032528.2;ST6GAL2,missense_variant,p.Pro86Leu,ENST00000361803,;	A	ENST00000409382	Transcript	missense_variant	2170/7275	1559/1590	520/529	P/L	cCt/cTt		1		-1	ST6GAL2	HGNC	HGNC:10861	protein_coding	YES	CCDS2073.1	ENSP00000386942	Q96JF0		UPI000007477B	NM_001142351.1			6/6																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	106806709	106806709	G	A	1	0	0	0	0	1	0	0	0	15600	1000	35	3		3	ST6GAL2	2	106806709	Missense_Mutation	SNP	G	C3L-02365_TP	22061544	106806709	135386820	70	9546											
DPP10	0	.	GRCh38	chr2	115836156	115836156	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatatatttttcccccccaGggttatggtggctatattgc	8	16	8	9	0	0	0	0	0	0	0	1	0	1	0	3	3	1	2	3	3	6	9			C3L-02365_TP	C3L-02365_NB	G	G																c.1963-1G>T		p.X655_splice	ENST00000393147		83	37	46	95	95	0	strelka-varscan-mutect	DPP10,splice_acceptor_variant,,ENST00000410059,NM_001321910.1,NM_001321911.1,NM_001321914.1,NM_001321905.1,NM_001321906.1,NM_020868.3;DPP10,splice_acceptor_variant,,ENST00000409163,NM_001178036.1,NM_001178037.1;DPP10,splice_acceptor_variant,,ENST00000310323,NM_001004360.3;DPP10,splice_acceptor_variant,,ENST00000393147,NM_001178034.1;DPP10,splice_acceptor_variant,,ENST00000473362,;	T	ENST00000393147	Transcript	splice_acceptor_variant	-/2758	1963/2403	655/800			COSM4923872,COSM4923873	1		1	DPP10	HGNC	HGNC:20823	protein_coding	YES	CCDS54388.1	ENSP00000376855	Q8N608		UPI00015E0A22	NM_001178034.1				21/25												1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												T	5	4	34	115836156	115836156	G	T	1	0	0	0	0	0	0	1	0	4542	1014	35	2		2	DPP10	2	115836156	Splice_Site	SNP	G	C3L-02365_TP	9029447	115836156	126357373	71	9547											
PTPN4	0	.	GRCh38	chr2	119957064	119957064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatgaagactacatcaatgCgaactatataaatgtaagtt	18	12	6	5	1	1	2	1	1	0	1	1	3	1	2	0	0	3	2	0	0	10	7	rs779332065		C3L-02365_TP	C3L-02365_NB	C	C																c.2120C>T	p.Ala707Val	p.A707V	ENST00000263708	22/27	176	90	86	177	177	0	strelka-varscan-mutect	PTPN4,missense_variant,p.Ala707Val,ENST00000263708,NM_002830.3;PTPN4,upstream_gene_variant,,ENST00000441089,;PTPN4,3_prime_UTR_variant,,ENST00000430976,;PTPN4,upstream_gene_variant,,ENST00000469511,;	T	ENST00000263708	Transcript	missense_variant	2891/10300	2120/2781	707/926	A/V	gCg/gTg	rs779332065,COSM202471	1		1	PTPN4	HGNC	HGNC:9656	protein_coding	YES	CCDS2129.1	ENSP00000263708	P29074	A0A024RAE8	UPI0000000CA9	NM_002830.3	deleterious(0)		22/27		PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF321,hmmpanther:PTHR19134,PIRSF_domain:PIRSF000927,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00194,Superfamily_domains:SSF52799,Prints_domain:PR00700											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs779332065	.												T	3	4	34	119957064	119957064	C	T	1	0	0	0	0	1	0	0	0	12944	768	27	1		1	PTPN4	2	119957064	Missense_Mutation	SNP	C	C3L-02365_TP	4120908	119957064	122236465	72	9548											
TUBA3E	0	.	GRCh38	chr2	130196318	130196318	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcagtacagttcccagcaGgcattgccgatctggacacc	10	7	11	13	1	1	0	0	0	1	0	2	2	2	1	3	3	3	5	3	3	1	3	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.57C>A	p.=	p.A19A	ENST00000312988	2/5	225	98	127	188	188	0	strelka-varscan-mutect	TUBA3E,synonymous_variant,p.=,ENST00000312988,NM_207312.2;	T	ENST00000312988	Transcript	synonymous_variant	158/1542	57/1353	19/450	A	gcC/gcA		1		-1	TUBA3E	HGNC	HGNC:20765	protein_coding	YES	CCDS2158.1	ENSP00000318197	Q6PEY2		UPI00001BE8EB	NM_207312.2			2/5		Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01161,Prints_domain:PR01162,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF94,Superfamily_domains:SSF52490																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	34	130196318	130196318	G	T	1	0	0	0	0	0	0	0	1	17258	987	35	2		2	TUBA3E	2	130196318	Silent	SNP	G	C3L-02365_TP	10239254	130196318	111997211	73	9549											
LRP1B	0	.	GRCh38	chr2	141188554	141188554	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaatagagatttcgagTgagccagtcaatcgccattt	14	10	8	9	2	1	2	1	1	0	1	3	4	1	2	2	0	1	0	2	0	4	3	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.880A>T	p.Thr294Ser	p.T294S	ENST00000389484	7/91	196	85	111	172	172	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Thr294Ser,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	A	ENST00000389484	Transcript	missense_variant	1852/16535	880/13800	294/4599	T/S	Act/Tct		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(0.26)		7/91		PROSITE_profiles:PS51120,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	141188554	141188554	T	A	1	0	0	0	0	1	0	0	0	8850	1696	59	4		4	LRP1B	2	141188554	Missense_Mutation	SNP	T	C3L-02365_TP	10992236	141188554	101004975	74	9550											
NEB	0	.	GRCh38	chr2	151553908	151553908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatccattcgtggaggcgcaGgcggtaatcaatctcactga	11	9	11	10	3	2	1	2	1	1	0	5	2	3	2	1	4	0	2	1	4	3	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.19546C>A	p.Leu6516Met	p.L6516M	ENST00000618972	126/183	192	174	18	154	154	0	strelka-varscan-mutect	NEB,missense_variant,p.Leu6516Met,ENST00000618972,NM_001271208.1;NEB,missense_variant,p.Leu6516Met,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Leu6516Met,ENST00000427231,NM_001164507.1;NEB,missense_variant,p.Leu6516Met,ENST00000603639,;NEB,missense_variant,p.Leu6516Met,ENST00000604864,;NEB,missense_variant,p.Leu4815Met,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Leu4815Met,ENST00000172853,;NEB,missense_variant,p.Leu1246Met,ENST00000413693,;	T	ENST00000618972	Transcript	missense_variant	19749/26307	19546/25683	6516/8560	L/M	Ctg/Atg		1		-1	NEB	HGNC	HGNC:7720	protein_coding	YES	CCDS74588.1	ENSP00000484342		A0A087X1N7	UPI0004E4CCB0	NM_001271208.1	tolerated(0.13)		126/183		hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,SMART_domains:SM00227																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	34	151553908	151553908	G	T	1	0	0	0	0	1	0	0	0	10326	991	35	2		2	NEB	2	151553908	Missense_Mutation	SNP	G	C3L-02365_TP	10365354	151553908	90639621	75	9551											
MYO3B	0	.	GRCh38	chr2	170200221	170200221	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcatcccaatgttgtaaaGttttatgggatgttttacaa	13	16	7	5	0	1	0	1	0	0	0	2	1	2	1	1	1	1	4	1	1	7	6	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.258G>C	p.Lys86Asn	p.K86N	ENST00000408978	3/35	249	123	126	195	195	0	strelka-varscan-mutect	MYO3B,missense_variant,p.Lys86Asn,ENST00000408978,NM_138995.4;MYO3B,missense_variant,p.Lys86Asn,ENST00000409044,NM_001083615.3;MYO3B,missense_variant,p.Lys95Asn,ENST00000484338,;MYO3B,missense_variant,p.Lys86Asn,ENST00000442690,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,missense_variant,p.Lys86Asn,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	C	ENST00000408978	Transcript	missense_variant	401/5529	258/4026	86/1341	K/N	aaG/aaC		1		1	MYO3B	HGNC	HGNC:15576	protein_coding	YES	CCDS42773.1	ENSP00000386213	Q8WXR4		UPI000020907B	NM_138995.4	tolerated(0.07)		3/35		PROSITE_profiles:PS50011,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	170200221	170200221	G	C	1	0	0	0	0	1	0	0	0	10078	1020	36	4		4	MYO3B	2	170200221	Missense_Mutation	SNP	G	C3L-02365_TP	18646313	170200221	71993308	76	9552											
ITGAV	0	.	GRCh38	chr2	186638457	186638457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccttatacaattttactGgcgagcaggtatgcttccaa	10	13	7	11	1	0	0	0	0	0	0	2	1	2	0	3	2	4	3	3	2	6	6	rs199654707		C3L-02365_TP	C3L-02365_NB	G	G																c.895G>T	p.Gly299Cys	p.G299C	ENST00000261023	10/30	244	118	126	230	230	0	strelka-varscan-mutect	ITGAV,missense_variant,p.Gly299Cys,ENST00000261023,NM_002210.4;ITGAV,missense_variant,p.Gly263Cys,ENST00000374907,NM_001145000.2;ITGAV,missense_variant,p.Gly253Cys,ENST00000433736,NM_001144999.2;AC017101.10,downstream_gene_variant,,ENST00000453665,;	T	ENST00000261023	Transcript	missense_variant	1169/7030	895/3147	299/1048	G/C	Ggc/Tgc	rs199654707	1		1	ITGAV	HGNC	HGNC:6150	protein_coding	YES	CCDS2292.1	ENSP00000261023	P06756	L7RXH0	UPI000013D12E	NM_002210.4	deleterious(0)		10/30		PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF4,hmmpanther:PTHR23220,Gene3D:3nigC00,Superfamily_domains:SSF69318,Prints_domain:PR01185																	MODERATE	1	SNV	1			1										PASS		rs199654707	.												T	3	4	34	186638457	186638457	G	T	1	0	0	0	0	1	0	0	0	7795	1348	47	2		2	ITGAV	2	186638457	Missense_Mutation	SNP	G	C3L-02365_TP	16438236	186638457	55555072	77	9553											
COL5A2	0	.	GRCh38	chr2	189053479	189053479	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattttcacctcgagaacccTaggaggagacaaagattact	14	9	8	10	1	1	3	1	0	0	3	2	6	1	4	2	2	2	0	2	2	4	4	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.2500-2A>T		p.X834_splice	ENST00000374866		463	183	280	387	386	1	strelka-varscan-mutect	COL5A2,splice_acceptor_variant,,ENST00000374866,NM_000393.3;COL5A2,splice_acceptor_variant,,ENST00000618828,;COL5A2,downstream_gene_variant,,ENST00000470524,;	A	ENST00000374866	Transcript	splice_acceptor_variant	-/6949	2500/4500	834/1499				1		-1	COL5A2	HGNC	HGNC:2210	protein_coding	YES	CCDS33350.1	ENSP00000364000	P05997		UPI00006C511C	NM_000393.3				37/53																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	34	189053479	189053479	T	A	1	0	0	0	0	0	0	1	0	3486	1536	53	4		4	COL5A2	2	189053479	Splice_Site	SNP	T	C3L-02365_TP	2415022	189053479	53140050	78	9554											
PLCL1	0	.	GRCh38	chr2	198103852	198103852	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagttccatgaagaacttcaTaatttgggggcaaaagaagg	15	9	12	5	0	1	3	1	1	0	2	2	4	2	3	1	3	1	2	1	3	6	4	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.3021T>C	p.=	p.H1007H	ENST00000428675	5/6	171	74	97	150	150	0	strelka-varscan-mutect	PLCL1,synonymous_variant,p.=,ENST00000437704,;PLCL1,synonymous_variant,p.=,ENST00000428675,NM_006226.3;PLCL1,synonymous_variant,p.=,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	C	ENST00000428675	Transcript	synonymous_variant	3419/5125	3021/3288	1007/1095	H	caT/caC		1		1	PLCL1	HGNC	HGNC:9063	protein_coding	YES	CCDS2326.2	ENSP00000402861	Q15111		UPI000165BCF5	NM_006226.3			5/6		hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF102																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	34	198103852	198103852	T	C	1	0	0	0	0	0	0	0	1	12133	1403	49	5		5	PLCL1	2	198103852	Silent	SNP	T	C3L-02365_TP	9050373	198103852	44089677	79	9555											
MAP2	0	.	GRCh38	chr2	209692903	209692903	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagaagacagaaccaagcCttgtagtacctggcattgac	15	7	9	10	0	0	4	0	1	0	3	0	4	0	4	3	1	4	3	3	1	6	4	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.733C>G	p.Leu245Val	p.L245V	ENST00000360351	7/15	294	228	66	196	196	0	strelka-varscan-mutect	MAP2,missense_variant,p.Leu245Val,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Leu241Val,ENST00000447185,;MAP2,missense_variant,p.Leu327Val,ENST00000445941,;MAP2,intron_variant,,ENST00000392194,NM_031845.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,non_coding_transcript_exon_variant,,ENST00000461253,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000481649,;	G	ENST00000360351	Transcript	missense_variant	1239/9711	733/5484	245/1827	L/V	Ctt/Gtt		1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3	tolerated_low_confidence(0.06)		7/15		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	34	209692903	209692903	C	G	1	0	0	0	0	1	0	0	0	9157	681	24	4		4	MAP2	2	209692903	Missense_Mutation	SNP	C	C3L-02365_TP	11589051	209692903	32500626	80	9556											
MOGAT1	0	.	GRCh38	chr2	222694429	222694429	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggaggtggaaacatctcTgtcattgtccttgggggtgc	7	11	16	7	0	2	0	1	0	1	0	4	3	3	2	1	5	2	0	1	5	1	2	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.546T>A	p.=	p.S182S	ENST00000446656	4/6	269	111	158	257	257	0	strelka-varscan-mutect	MOGAT1,synonymous_variant,p.=,ENST00000446656,NM_058165.2;AC016712.1,downstream_gene_variant,,ENST00000444764,;	A	ENST00000446656	Transcript	synonymous_variant	546/1048	546/1008	182/335	S	tcT/tcA		1		1	MOGAT1	HGNC	HGNC:18210	protein_coding	YES	CCDS46524.1	ENSP00000406674	Q96PD6		UPI000013D50F	NM_058165.2			4/6		hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF26,Pfam_domain:PF03982																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	34	222694429	222694429	T	A	1	0	0	0	0	0	0	0	1	9657	1567	55	4		4	MOGAT1	2	222694429	Silent	SNP	T	C3L-02365_TP	13001526	222694429	19499100	81	9557											
IQCA1	0	.	GRCh38	chr2	236344578	236344579	+	Frame_Shift_Del	DEL	TT	TT	-																															atcttttctgcgttgggaacTtttttgtagaaggttttttc																								novel		C3L-02365_TP	C3L-02365_NB	TT	TT																c.1958_1959delAA	p.Lys653SerfsTer9	p.K653Sfs*9	ENST00000431676	16/19	240	180	60	197	197	0	sindel-varindel-pindel	IQCA1,frameshift_variant,p.Lys645SerfsTer9,ENST00000409907,NM_024726.4;IQCA1,frameshift_variant,p.Lys604SerfsTer9,ENST00000309507,NM_001270584.1;IQCA1,frameshift_variant,p.Lys653SerfsTer9,ENST00000431676,NM_001270585.1;IQCA1,non_coding_transcript_exon_variant,,ENST00000409100,;IQCA1,frameshift_variant,p.Lys646SerfsTer28,ENST00000254653,;	-	ENST00000431676	Transcript	frameshift_variant	1993-1994/3069	1958-1959/2493	653/830	K/X	aAA/a		1		-1	IQCA1	HGNC	HGNC:26195	protein_coding	YES	CCDS74677.1	ENSP00000407213		A0A0A0MSY6	UPI0001AE77A0	NM_001270585.1			16/19		Gene3D:3.40.50.300,Pfam_domain:PF00004,hmmpanther:PTHR14690,hmmpanther:PTHR14690:SF8,Superfamily_domains:SSF52540																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	34	236344578	236344578	TT	-	1	0	1	0	1	0	0	0	0	7705	1606	56	0		0	IQCA1	2	236344578	Frame_Shift_Del	DEL	TT	C3L-02365_TP	13650149	236344578	5848951	82	9558											
ESPNL	0	.	GRCh38	chr2	238131007	238131007	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagacagtggcctgcaggAccctaggagcccgccacgcg	9	4	13	15	3	1	1	1	0	0	1	1	3	1	3	4	3	2	1	4	3	2	1	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.2293A>G	p.Thr765Ala	p.T765A	ENST00000343063	9/9	237	91	146	132	132	0	strelka-varscan-mutect	ESPNL,missense_variant,p.Thr765Ala,ENST00000343063,NM_194312.2;ESPNL,missense_variant,p.Thr721Ala,ENST00000409169,;ESPNL,missense_variant,p.Thr397Ala,ENST00000409506,NM_001308370.1;ESPNL,5_prime_UTR_variant,,ENST00000612395,;ESPNL,downstream_gene_variant,,ENST00000423032,;ESPNL,non_coding_transcript_exon_variant,,ENST00000477241,;	G	ENST00000343063	Transcript	missense_variant	2556/4836	2293/3018	765/1005	T/A	Acc/Gcc		1		1	ESPNL	HGNC	HGNC:27937	protein_coding	YES	CCDS2525.1	ENSP00000339115	Q6ZVH7		UPI000022BC90	NM_194312.2	tolerated(0.07)		9/9		hmmpanther:PTHR24153:SF0,hmmpanther:PTHR24153																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	34	238131007	238131007	A	G	1	0	0	0	0	1	0	0	0	5117	275	10	5		5	ESPNL	2	238131007	Missense_Mutation	SNP	A	C3L-02365_TP	1786429	238131007	4062522	83	9559											
CNTN4	0	.	GRCh38	chr3	3040253	3040253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttcagtcccaccacggtgGtgtattctgcagaagaaggt	9	11	11	10	1	2	2	1	0	1	2	3	2	3	2	2	3	1	2	2	3	3	3	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.2380G>C	p.Val794Leu	p.V794L	ENST00000397461	19/24	278	164	114	278	278	0	strelka-varscan-mutect	CNTN4,missense_variant,p.Val794Leu,ENST00000397461,NM_001206955.1;CNTN4,missense_variant,p.Val794Leu,ENST00000418658,NM_175607.2;CNTN4,missense_variant,p.Val794Leu,ENST00000427331,;CNTN4,missense_variant,p.Val466Leu,ENST00000397459,NM_001206956.1,NM_175613.2;CNTN4-AS1,non_coding_transcript_exon_variant,,ENST00000442749,;CNTN4-AS1,downstream_gene_variant,,ENST00000629672,;CNTN4,3_prime_UTR_variant,,ENST00000427741,;CNTN4,non_coding_transcript_exon_variant,,ENST00000484686,;CNTN4,downstream_gene_variant,,ENST00000430505,;	C	ENST00000397461	Transcript	missense_variant	2764/5198	2380/3081	794/1026	V/L	Gtg/Ctg		1		1	CNTN4	HGNC	HGNC:2174	protein_coding	YES	CCDS43041.1	ENSP00000380602	Q8IWV2	A0A024R2E5	UPI000007446C	NM_001206955.1	deleterious(0.02)		19/24		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF568,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	34	3040253	3040253	G	C	1	0	0	0	0	1	0	0	0	3424	1261	44	4		4	CNTN4	3	3040253	Missense_Mutation	SNP	G	C3L-02365_TP		3040253	195255306	84	9560											
SLC6A1	0	.	GRCh38	chr3	11034647	11034647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtcttccatggtcctcatCcccgggtacatggcctacat	6	12	8	15	1	2	0	1	0	1	0	5	0	5	0	5	3	2	1	5	3	2	3	rs200481115		C3L-02365_TP	C3L-02365_NB	C	C																c.1644C>T	p.=	p.I548I	ENST00000287766	15/16	161	135	26	148	148	0	strelka-varscan-mutect	SLC6A1,synonymous_variant,p.=,ENST00000287766,NM_003042.3;SLC6A1,non_coding_transcript_exon_variant,,ENST00000495636,;	T	ENST00000287766	Transcript	synonymous_variant	2065/4502	1644/1800	548/599	I	atC/atT	rs200481115,COSM5539261	1		1	SLC6A1	HGNC	HGNC:11042	protein_coding	YES	CCDS2603.1	ENSP00000287766	P30531	A0A024R2G0	UPI000013DECF	NM_003042.3			15/16		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF138,Pfam_domain:PF00209,Superfamily_domains:0053687											0,1						LOW	1	SNV	1		0,1	1										PASS		rs200481115	.												T	2	4	34	11034647	11034647	C	T	1	0	0	0	0	0	0	0	1	14956	845	30	3		3	SLC6A1	3	11034647	Silent	SNP	C	C3L-02365_TP	7994394	11034647	187260912	85	9561											
ZNF860	0	.	GRCh38	chr3	31990845	31990845	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaaaggagaattcataTgggagagaaacatcacaagt	21	6	9	5	0	2	2	2	0	0	2	2	5	2	3	0	2	2	0	0	2	7	2	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.1766T>A	p.Met589Lys	p.M589K	ENST00000360311	2/2	250	209	41	330	330	0	strelka-varscan-mutect	ZNF860,missense_variant,p.Met589Lys,ENST00000360311,NM_001137674.2;OSBPL10,intron_variant,,ENST00000479173,;ZNF860,downstream_gene_variant,,ENST00000489408,;	A	ENST00000360311	Transcript	missense_variant	2315/3098	1766/1899	589/632	M/K	aTg/aAg		1		1	ZNF860	HGNC	HGNC:34513	protein_coding	YES	CCDS46784.1	ENSP00000373274	A6NHJ4		UPI0000D61AE9	NM_001137674.2	deleterious(0.01)		2/2		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF301,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	34	31990845	31990845	T	A	1	0	0	0	0	1	0	0	0	18785	1464	51	4		4	ZNF860	3	31990845	Missense_Mutation	SNP	T	C3L-02365_TP	20956198	31990845	166304714	86	9562											
TDGF1	0	.	GRCh38	chr3	46581188	46581188	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactccagaactaccaccgTctgcacgtactaccactttt	10	10	6	15	2	1	1	0	0	1	1	2	2	2	2	4	1	5	2	4	1	4	5	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.505T>A	p.Ser169Thr	p.S169T	ENST00000296145	6/6	427	251	176	574	574	0	strelka-varscan-mutect	TDGF1,missense_variant,p.Ser169Thr,ENST00000296145,NM_003212.3;TDGF1,missense_variant,p.Ser153Thr,ENST00000542931,NM_001174136.1;LRRC2,upstream_gene_variant,,ENST00000296144,;AC104304.4,missense_variant,p.Ser14Thr,ENST00000505797,;TDGF1,downstream_gene_variant,,ENST00000471721,;TDGF1,downstream_gene_variant,,ENST00000493282,;TDGF1,downstream_gene_variant,,ENST00000459867,;	A	ENST00000296145	Transcript	missense_variant	1238/2513	505/567	169/188	S/T	Tct/Act		1		1	TDGF1	HGNC	HGNC:11701	protein_coding	YES	CCDS2742.1	ENSP00000296145	P13385		UPI000004966D	NM_003212.3	tolerated(0.09)		6/6		hmmpanther:PTHR14949,hmmpanther:PTHR14949:SF26,PIRSF_domain:PIRSF036301																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	46581188	46581188	T	A	1	0	0	0	0	1	0	0	0	16134	1667	58	4		4	TDGF1	3	46581188	Missense_Mutation	SNP	T	C3L-02365_TP	14590343	46581188	151714371	87	9563											
PDHB	0	.	GRCh38	chr3	58429776	58429776	+	Frame_Shift_Del	DEL	G	G	-																															gtggcccacaggtcttgaatGggaaaccacagttatatgtg																								novel		C3L-02365_TP	C3L-02365_NB	G	G																c.724delC	p.His242IlefsTer9	p.H242Ifs*9	ENST00000302746	8/10	316	262	54	410	409	1	sindel-varindel-pindel	PDHB,frameshift_variant,p.His242IlefsTer9,ENST00000302746,NM_000925.3;PDHB,frameshift_variant,p.His224IlefsTer9,ENST00000474765,;PDHB,frameshift_variant,p.His224IlefsTer9,ENST00000383714,NM_001315536.1;PDHB,frameshift_variant,p.His224IlefsTer9,ENST00000485460,NM_001173468.1;PXK,downstream_gene_variant,,ENST00000383716,NM_001289098.1;PXK,downstream_gene_variant,,ENST00000463280,NM_001289101.1,NM_001289100.1;PXK,downstream_gene_variant,,ENST00000479241,NM_001289095.1;PXK,downstream_gene_variant,,ENST00000356151,NM_001289099.1,NM_001289096.1,NM_017771.4;PXK,downstream_gene_variant,,ENST00000302779,;PXK,downstream_gene_variant,,ENST00000479134,;PXK,downstream_gene_variant,,ENST00000493474,;RP11-802O23.3,downstream_gene_variant,,ENST00000607214,;PDHB,3_prime_UTR_variant,,ENST00000469364,;PDHB,non_coding_transcript_exon_variant,,ENST00000479945,;PDHB,non_coding_transcript_exon_variant,,ENST00000461692,;PXK,downstream_gene_variant,,ENST00000468776,;PXK,downstream_gene_variant,,ENST00000477308,;PDHB,downstream_gene_variant,,ENST00000480626,;PDHB,downstream_gene_variant,,ENST00000469827,;PDHB,downstream_gene_variant,,ENST00000482894,;	-	ENST00000302746	Transcript	frameshift_variant	767/1527	724/1080	242/359	H/X	Cat/at		1		-1	PDHB	HGNC	HGNC:8808	protein_coding	YES	CCDS2890.1	ENSP00000307241	P11177		UPI000013E81D	NM_000925.3			8/10		Gene3D:3.40.50.920,Pfam_domain:PF02780,hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF56,Superfamily_domains:SSF52922																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	34	58429776	58429776	G	-	1	0	1	0	1	0	0	0	0	11754	1348	47	0		0	PDHB	3	58429776	Frame_Shift_Del	DEL	G	C3L-02365_TP	11848588	58429776	139865783	88	9564											
ROBO1	0	.	GRCh38	chr3	78670123	78670123	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcggatctgcagtactccAttctccaactgtttgattcg	8	15	7	11	2	2	1	0	1	2	0	6	2	3	2	2	1	3	3	2	1	3	5	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.1521T>C	p.=	p.N507N	ENST00000464233	11/31	113	106	7	129	129	0	strelka-varscan-mutect	ROBO1,synonymous_variant,p.=,ENST00000436010,;ROBO1,synonymous_variant,p.=,ENST00000618833,;ROBO1,synonymous_variant,p.=,ENST00000618846,;ROBO1,synonymous_variant,p.=,ENST00000464233,NM_002941.3;ROBO1,synonymous_variant,p.=,ENST00000495273,NM_133631.3;ROBO1,synonymous_variant,p.=,ENST00000467549,NM_001145845.1;ROBO1,synonymous_variant,p.=,ENST00000495961,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;ROBO1,non_coding_transcript_exon_variant,,ENST00000484514,;	G	ENST00000464233	Transcript	synonymous_variant	1635/6742	1521/4956	507/1651	N	aaT/aaC		1		-1	ROBO1	HGNC	HGNC:10249	protein_coding	YES	CCDS54611.1	ENSP00000420321	Q9Y6N7		UPI00000713D9	NM_002941.3			11/31		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF107,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	34	78670123	78670123	A	G	1	0	0	0	0	0	0	0	1	13691	214	8	5		5	ROBO1	3	78670123	Silent	SNP	A	C3L-02365_TP	20240347	78670123	119625436	89	9565											
USF3	0	.	GRCh38	chr3	113659769	113659769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgataaagatgaaggtcttGgtaatatgtggacaagatgc	14	11	12	4	0	1	4	0	2	1	2	1	5	1	5	0	3	1	1	0	3	6	4	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1913C>A	p.Pro638Gln	p.P638Q	ENST00000316407	7/7	190	136	54	250	249	1	strelka-varscan-mutect	USF3,missense_variant,p.Pro638Gln,ENST00000316407,NM_001009899.3;USF3,missense_variant,p.Pro638Gln,ENST00000478658,;USF3,intron_variant,,ENST00000491165,;USF3,non_coding_transcript_exon_variant,,ENST00000496826,;	T	ENST00000316407	Transcript	missense_variant	2324/13708	1913/6738	638/2245	P/Q	cCa/cAa		1		-1	USF3	HGNC	HGNC:30494	protein_coding	YES	CCDS43133.1	ENSP00000320794	Q68DE3		UPI0004438052	NM_001009899.3	deleterious(0)		7/7																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	34	113659769	113659769	G	T	1	0	0	0	0	1	0	0	0	17567	1348	47	2		2	USF3	3	113659769	Missense_Mutation	SNP	G	C3L-02365_TP	34989646	113659769	84635790	90	9566											
EPHB1	0	.	GRCh38	chr3	134951831	134951831	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtccgtgtcttcttcaaaaAgtgtcccagcattgtgcaaa	10	13	8	10	1	3	0	1	0	2	0	5	0	5	0	2	0	2	2	2	0	3	3	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.584A>T	p.Lys195Met	p.K195M	ENST00000398015	3/16	159	86	73	155	155	0	strelka-varscan-mutect	EPHB1,missense_variant,p.Lys195Met,ENST00000398015,NM_004441.4;EPHB1,downstream_gene_variant,,ENST00000460895,;EPHB1,downstream_gene_variant,,ENST00000474732,;EPHB1,downstream_gene_variant,,ENST00000473867,;EPHB1,downstream_gene_variant,,ENST00000497173,;EPHB1,intron_variant,,ENST00000488154,;EPHB1,missense_variant,p.Lys195Met,ENST00000482618,;	T	ENST00000398015	Transcript	missense_variant	954/4672	584/2955	195/984	K/M	aAg/aTg		1		1	EPHB1	HGNC	HGNC:3392	protein_coding	YES	CCDS46921.1	ENSP00000381097	P54762		UPI000012A07E	NM_004441.4	deleterious(0.01)		3/16		Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,PROSITE_patterns:PS00790,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,SMART_domains:SM00615																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	134951831	134951831	A	T	1	0	0	0	0	1	0	0	0	5021	72	3	4		4	EPHB1	3	134951831	Missense_Mutation	SNP	A	C3L-02365_TP	21292062	134951831	63343728	91	9567											
SOX14	0	.	GRCh38	chr3	137765316	137765316	+	Frame_Shift_Del	DEL	G	G	-																															gctaccagaacggcgccttcGgcagcctcagctgccccagc																								rs780965428		C3L-02365_TP	C3L-02365_NB	G	G																c.533delG	p.Gly178AlafsTer47	p.G178Afs*47	ENST00000306087	1/1	159	120	39	165	165	0	sindel-varindel-pindel	SOX14,frameshift_variant,p.Gly178AlafsTer47,ENST00000306087,NM_004189.3;	-	ENST00000306087	Transcript	frameshift_variant	1033/2055	532/723	178/240	G/X	Ggc/gc	rs780965428	1		1	SOX14	HGNC	HGNC:11193	protein_coding	YES	CCDS3094.1	ENSP00000305343	O95416		UPI0000000B2D	NM_004189.3			1/1		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF107,Pfam_domain:PF12336																	HIGH	1	deletion		1		1										PASS		.	.												-	7	5	34	137765316	137765316	G	-	1	0	1	0	1	0	0	0	0	15271	1116	39	0		0	SOX14	3	137765316	Frame_Shift_Del	DEL	G	C3L-02365_TP	2813485	137765316	60530243	92	9568											
SAMD7	0	.	GRCh38	chr3	169927053	169927053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacccataggaaaccctgggGgtctcacaccactaccctga	11	6	8	16	0	1	1	1	1	1	0	2	2	1	2	4	3	2	0	4	3	3	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.791G>T	p.Gly264Val	p.G264V	ENST00000428432	6/9	106	58	48	119	118	1	strelka-varscan-mutect	SAMD7,missense_variant,p.Gly264Val,ENST00000428432,NM_182610.3;SAMD7,missense_variant,p.Gly264Val,ENST00000335556,NM_001304366.1;SAMD7,3_prime_UTR_variant,,ENST00000487910,;RP11-379K17.2,upstream_gene_variant,,ENST00000493762,;	T	ENST00000428432	Transcript	missense_variant	1180/2399	791/1341	264/446	G/V	gGg/gTg		1		1	SAMD7	HGNC	HGNC:25394	protein_coding	YES	CCDS3209.1	ENSP00000391299	Q7Z3H4		UPI00001A9D13	NM_182610.3	tolerated(0.14)		6/9		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF89																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	169927053	169927053	G	T	1	0	0	0	0	1	0	0	0	14084	1232	43	2		2	SAMD7	3	169927053	Missense_Mutation	SNP	G	C3L-02365_TP	32161737	169927053	28368506	93	9569											
SPATA16	0	.	GRCh38	chr3	173117498	173117498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccgtttaaaggctgctttCtctaaatcattgctttgttt	7	20	6	8	1	2	0	1	0	1	0	4	0	3	0	1	1	2	5	1	1	4	8	rs779138808		C3L-02365_TP	C3L-02365_NB	C	C																c.234G>C	p.Glu78Asp	p.E78D	ENST00000351008	2/11	413	391	22	505	505	0	strelka-varscan-mutect	SPATA16,missense_variant,p.Glu78Asp,ENST00000351008,NM_031955.5;	G	ENST00000351008	Transcript	missense_variant	418/2106	234/1710	78/569	E/D	gaG/gaC	rs779138808,COSM729034	1		-1	SPATA16	HGNC	HGNC:29935	protein_coding	YES	CCDS3221.1	ENSP00000341765	Q9BXB7	A0A140VJV8	UPI000013D9BF	NM_031955.5	tolerated(1)		2/11		Pfam_domain:PF15015,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF336											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs779138808	.												G	3	3	34	173117498	173117498	C	G	1	0	0	0	0	1	0	0	0	15331	912	32	4		4	SPATA16	3	173117498	Missense_Mutation	SNP	C	C3L-02365_TP	3190445	173117498	25178061	94	9570											
HTR3D	0	.	GRCh38	chr3	184038836	184038836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatggacaagggcccagcGggaacacgaggcccagaagc	14	1	15	11	2	0	2	0	0	0	2	0	5	0	4	2	4	3	0	2	4	4	0	rs775646831		C3L-02365_TP	C3L-02365_NB	G	G																c.1226G>T	p.Arg409Leu	p.R409L	ENST00000382489	8/8	114	93	21	103	103	0	strelka-varscan-mutect	HTR3D,missense_variant,p.Arg409Leu,ENST00000382489,NM_001163646.1;HTR3D,missense_variant,p.Arg234Leu,ENST00000334128,NM_182537.2;HTR3D,missense_variant,p.Arg359Leu,ENST00000428798,NM_001145143.1;HTR3D,missense_variant,p.Arg188Leu,ENST00000453435,;	T	ENST00000382489	Transcript	missense_variant	1226/1674	1226/1365	409/454	R/L	cGg/cTg	rs775646831,COSM5509980,COSM5509981,COSM5509982	1		1	HTR3D	HGNC	HGNC:24004	protein_coding	YES	CCDS54685.1	ENSP00000371929	Q70Z44		UPI000024209D	NM_001163646.1	tolerated(0.36)		8/8		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF409,Superfamily_domains:SSF90112											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs775646831	.												T	3	4	34	184038836	184038836	G	T	1	0	0	0	0	1	0	0	0	7343	1116	39	1		1	HTR3D	3	184038836	Missense_Mutation	SNP	G	C3L-02365_TP	10921338	184038836	14256723	95	9571											
EIF4A2	0	.	GRCh38	chr3	186785981	186785981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaatgcaaaaactgcaGgctgaagcaccacatattgt	17	8	8	8	0	0	2	0	2	0	0	0	2	0	2	1	1	4	4	1	1	6	2			C3L-02365_TP	C3L-02365_NB	G	G																c.447G>T	p.Gln149His	p.Q149H	ENST00000323963	5/11	87	50	37	110	110	0	strelka-varscan-mutect	EIF4A2,missense_variant,p.Gln149His,ENST00000323963,NM_001967.3;EIF4A2,missense_variant,p.Gln150His,ENST00000440191,;RFC4,downstream_gene_variant,,ENST00000392481,NM_181573.2;RFC4,downstream_gene_variant,,ENST00000296273,NM_002916.3;RFC4,downstream_gene_variant,,ENST00000433496,;EIF4A2,downstream_gene_variant,,ENST00000445596,;EIF4A2,downstream_gene_variant,,ENST00000498746,;EIF4A2,downstream_gene_variant,,ENST00000441007,;RFC4,downstream_gene_variant,,ENST00000417876,;SNORA81,upstream_gene_variant,,ENST00000408493,;SNORA4,upstream_gene_variant,,ENST00000584302,;SNORA63,upstream_gene_variant,,ENST00000363450,;SNORA63,upstream_gene_variant,,ENST00000363548,;EIF4A2,upstream_gene_variant,,ENST00000629190,;SNORD2,downstream_gene_variant,,ENST00000459163,;RP11-573D15.9,upstream_gene_variant,,ENST00000577781,;EIF4A2,missense_variant,p.Gln149His,ENST00000425053,;EIF4A2,3_prime_UTR_variant,,ENST00000426808,;EIF4A2,3_prime_UTR_variant,,ENST00000443963,;EIF4A2,3_prime_UTR_variant,,ENST00000429589,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000485101,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000468362,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000475653,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000495049,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000467585,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000466362,;EIF4A2,downstream_gene_variant,,ENST00000465267,;RFC4,downstream_gene_variant,,ENST00000479307,;EIF4A2,upstream_gene_variant,,ENST00000492144,;EIF4A2,upstream_gene_variant,,ENST00000497177,;EIF4A2,upstream_gene_variant,,ENST00000475409,;EIF4A2,upstream_gene_variant,,ENST00000465792,;EIF4A2,downstream_gene_variant,,ENST00000465222,;EIF4A2,upstream_gene_variant,,ENST00000494445,;EIF4A2,downstream_gene_variant,,ENST00000486805,;EIF4A2,downstream_gene_variant,,ENST00000491473,;EIF4A2,downstream_gene_variant,,ENST00000465032,;EIF4A2,upstream_gene_variant,,ENST00000461021,;EIF4A2,upstream_gene_variant,,ENST00000496382,;	T	ENST00000323963	Transcript	missense_variant	511/1919	447/1224	149/407	Q/H	caG/caT	COSM3992933	1		1	EIF4A2	HGNC	HGNC:3284	protein_coding	YES	CCDS3282.1	ENSP00000326381	Q14240		UPI0000000DD2	NM_001967.3	deleterious(0.03)		5/11		PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF226,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	34	186785981	186785981	G	T	1	0	0	0	0	1	0	0	0	4859	991	35	2		2	EIF4A2	3	186785981	Missense_Mutation	SNP	G	C3L-02365_TP	2747145	186785981	11509578	96	9572											
ZNF518B	0	.	GRCh38	chr4	10443358	10443358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcattctggtaggtcaggcGtacatgatgccgtctgatgc	7	11	13	10	3	3	2	1	2	2	0	3	2	3	2	1	3	3	3	1	3	2	3			C3L-02365_TP	C3L-02365_NB	G	G																c.2971C>A	p.Arg991Ser	p.R991S	ENST00000326756	3/3	182	131	51	174	174	0	strelka-varscan-mutect	ZNF518B,missense_variant,p.Arg991Ser,ENST00000326756,NM_053042.2;ZNF518B,downstream_gene_variant,,ENST00000507515,;	T	ENST00000326756	Transcript	missense_variant	3410/6894	2971/3225	991/1074	R/S	Cgc/Agc	COSM5318267	1		-1	ZNF518B	HGNC	HGNC:29365	protein_coding	YES	CCDS33960.1	ENSP00000317614	Q9C0D4		UPI0000160B97	NM_053042.2	deleterious(0)		3/3		hmmpanther:PTHR10032:SF188,hmmpanther:PTHR10032											1						MODERATE	1	SNV	3		1	1										PASS		rs1380410394	.												T	3	4	34	10443358	10443358	G	T	1	0	0	0	0	1	0	0	0	18535	1145	40	1		1	ZNF518B	4	10443358	Missense_Mutation	SNP	G	C3L-02365_TP		10443358	179771197	97	9573											
CORIN	0	.	GRCh38	chr4	47623680	47623680	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgccatggccaccttcCagggcgactcgtccgacctc	7	7	9	18	3	0	0	0	0	0	0	4	2	2	0	6	2	1	0	6	2	0	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2431G>T	p.Gly811Ter	p.G811*	ENST00000273857	19/22	320	265	55	254	254	0	strelka-varscan-mutect	CORIN,stop_gained,p.Gly811Ter,ENST00000273857,NM_006587.3;CORIN,stop_gained,p.Gly707Ter,ENST00000610355,NM_001278585.1;CORIN,stop_gained,p.Gly672Ter,ENST00000508498,;CORIN,stop_gained,p.Gly744Ter,ENST00000502252,;CORIN,stop_gained,p.Gly774Ter,ENST00000505909,;CORIN,non_coding_transcript_exon_variant,,ENST00000515827,;	A	ENST00000273857	Transcript	stop_gained	2431/4852	2431/3129	811/1042	G/*	Gga/Tga		1		-1	CORIN	HGNC	HGNC:19012	protein_coding	YES	CCDS3477.1	ENSP00000273857	Q9Y5Q5		UPI0000168657	NM_006587.3			19/22		Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF036376,PROSITE_profiles:PS50240,hmmpanther:PTHR24270,SMART_domains:SM00020,Superfamily_domains:SSF50494																	HIGH	1	SNV	1			1										PASS		rs1234182844	.												A	4	1	34	47623680	47623680	C	A	1	0	0	0	0	0	1	0	0	3546	603	21	2		2	CORIN	4	47623680	Nonsense_Mutation	SNP	C	C3L-02365_TP	37180322	47623680	142590875	98	9574											
EPHA5	0	.	GRCh38	chr4	65366010	65366010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggacagcttgattgggatCctcataggtatgtggatcaa	10	12	13	6	0	2	1	2	1	0	0	3	4	3	4	1	4	1	2	1	4	3	4			C3L-02365_TP	C3L-02365_NB	C	C																c.1975G>T	p.Asp659Tyr	p.D659Y	ENST00000622150	11/18	166	132	34	127	127	0	strelka-varscan-mutect	EPHA5,missense_variant,p.Asp659Tyr,ENST00000622150,NM_001281765.1;EPHA5,missense_variant,p.Asp637Tyr,ENST00000613740,NM_001281766.1;EPHA5,missense_variant,p.Asp658Tyr,ENST00000273854,NM_004439.6;EPHA5,missense_variant,p.Asp659Tyr,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Asp495Tyr,ENST00000432638,;EPHA5,missense_variant,p.Asp636Tyr,ENST00000354839,NM_182472.3;	A	ENST00000622150	Transcript	missense_variant	2728/8421	1975/3117	659/1038	D/Y	Gat/Tat	COSM1671043	1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1	deleterious(0)		11/18		Gene3D:3.30.200.20,Pfam_domain:PF14575,PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	34	65366010	65366010	C	A	1	0	0	0	0	1	0	0	0	5017	855	30	2		2	EPHA5	4	65366010	Missense_Mutation	SNP	C	C3L-02365_TP	17742330	65366010	124848545	99	9575											
RP11-766F14.2	0	.	GRCh38	chr4	99652668	99652668	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtccaggaaagttgaccAgcgcccaaagcccacttcgg	12	6	10	13	2	0	1	0	1	0	0	2	2	1	2	4	2	2	1	4	2	3	3	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.1981T>A	p.Trp661Arg	p.W661R	ENST00000511828	1/2	177	132	45	148	148	0	strelka-varscan-mutect	RP11-766F14.2,missense_variant,p.Trp661Arg,ENST00000511828,;	T	ENST00000511828	Transcript	missense_variant	1981/10086	1981/5382	661/1793	W/R	Tgg/Agg		1		-1	RP11-766F14.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000427555		D6RIA3	UPI0001D3B6FE		deleterious(0)		1/2																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	99652668	99652668	A	T	1	0	0	0	0	1	0	0	0	13762	188	7	4		4	RP11-766F14.2	4	99652668	Missense_Mutation	SNP	A	C3L-02365_TP	34286658	99652668	90561887	100	9576											
NDST4	0	.	GRCh38	chr4	115076350	115076350	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttaaaagtacaggctggtaGgttgaatgattatattggaa	14	13	12	2	0	0	2	0	2	0	0	0	3	0	3	0	4	1	5	0	4	8	7	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.687C>A	p.=	p.T229T	ENST00000264363	2/14	235	182	53	254	254	0	strelka-varscan-mutect	NDST4,synonymous_variant,p.=,ENST00000264363,NM_022569.1;NDST4,5_prime_UTR_variant,,ENST00000613194,;NDST4,intron_variant,,ENST00000504854,;NDST4,intron_variant,,ENST00000514570,;	T	ENST00000264363	Transcript	synonymous_variant	1366/3351	687/2619	229/872	T	acC/acA		1		-1	NDST4	HGNC	HGNC:20779	protein_coding	YES	CCDS3706.1	ENSP00000264363	Q9H3R1		UPI000006CED7	NM_022569.1			2/14		Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF45																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	34	115076350	115076350	G	T	1	0	0	0	0	0	0	0	1	10279	987	35	2		2	NDST4	4	115076350	Silent	SNP	G	C3L-02365_TP	15423682	115076350	75138205	101	9577											
FAT4	0	.	GRCh38	chr4	125490338	125490338	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctgcctttgtgggctgtgCctgccatcgtgggcagctgc	2	12	14	13	1	1	0	0	0	1	0	2	0	1	0	3	2	5	3	3	2	0	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.13516C>A	p.Pro4506Thr	p.P4506T	ENST00000394329	17/17	430	347	83	411	409	2	strelka-varscan-mutect	FAT4,missense_variant,p.Pro4506Thr,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,missense_variant,p.Pro2747Thr,ENST00000335110,;	A	ENST00000394329	Transcript	missense_variant	13529/16123	13516/14946	4506/4981	P/T	Cct/Act		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	deleterious_low_confidence(0.05)		17/17		Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		rs1278065148	.												A	3	1	34	125490338	125490338	C	A	1	0	0	0	0	1	0	0	0	5552	739	26	2		2	FAT4	4	125490338	Missense_Mutation	SNP	C	C3L-02365_TP	10413988	125490338	64724217	102	9578											
FREM3	0	.	GRCh38	chr4	143698928	143698928	+	Missense_Mutation	SNP	A	A	C																															cttttaggggctggttctccAgcacaaagtggatggttgag																								novel		C3L-02365_TP	C3L-02365_NB	A	A																c.1748T>G	p.Leu583Arg	p.L583R	ENST00000329798	1/8	229	126	103	275	275	0	strelka-varscan-mutect	FREM3,missense_variant,p.Leu583Arg,ENST00000329798,NM_001168235.1;RP13-578N3.3,upstream_gene_variant,,ENST00000499587,;	C	ENST00000329798	Transcript	missense_variant	1748/6729	1748/6420	583/2139	L/R	cTg/cGg		1		-1	FREM3	HGNC	HGNC:25172	protein_coding	YES	CCDS54808.1	ENSP00000332886	P0C091		UPI0000D615C2	NM_001168235.1	deleterious(0)		1/8		Pfam_domain:PF16184,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF31																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	34	143698928	143698928	A	C	1	0	0	0	0	1	0	0	0	5913	188	7	5		5	FREM3	4	143698928	Missense_Mutation	SNP	A	C3L-02365_TP	18208590	143698928	46515627	103	9579	215	2									
FREM3	0	.	GRCh38	chr4	143698929	143698929	+	Missense_Mutation	SNP	G	G	C																															ttttaggggctggttctccaGcacaaagtggatggttgagt																								novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1747C>G	p.Leu583Val	p.L583V	ENST00000329798	1/8	228	124	104	279	279	0	strelka-varscan-mutect	FREM3,missense_variant,p.Leu583Val,ENST00000329798,NM_001168235.1;RP13-578N3.3,upstream_gene_variant,,ENST00000499587,;	C	ENST00000329798	Transcript	missense_variant	1747/6729	1747/6420	583/2139	L/V	Ctg/Gtg		1		-1	FREM3	HGNC	HGNC:25172	protein_coding	YES	CCDS54808.1	ENSP00000332886	P0C091		UPI0000D615C2	NM_001168235.1	tolerated(0.13)		1/8		Pfam_domain:PF16184,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF31																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	34	143698929	143698929	G	C	1	0	0	0	0	1	0	0	0	5913	962	34	4		4	FREM3	4	143698929	Missense_Mutation	SNP	G	C3L-02365_TP	1	143698929	46515626	104	9580	215	2									
GRIA2	0	.	GRCh38	chr4	157332925	157332925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggggaatgcaggagactGtctggcaaacccagcagtgc	12	5	15	9	0	1	1	0	0	1	1	1	3	1	2	1	4	4	3	1	4	3	0	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.989G>T	p.Cys330Phe	p.C330F	ENST00000296526	7/16	124	68	56	114	114	0	strelka-varscan-mutect	GRIA2,missense_variant,p.Cys330Phe,ENST00000296526,NM_000826.3;GRIA2,missense_variant,p.Cys283Phe,ENST00000393815,NM_001083620.1;GRIA2,missense_variant,p.Cys330Phe,ENST00000264426,NM_001083619.1;GRIA2,missense_variant,p.Cys283Phe,ENST00000507898,;GRIA2,missense_variant,p.Cys283Phe,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	T	ENST00000296526	Transcript	missense_variant	1314/5621	989/2652	330/883	C/F	tGt/tTt		1		1	GRIA2	HGNC	HGNC:4572	protein_coding	YES	CCDS3797.1	ENSP00000296526	P42262		UPI000002AA8D	NM_000826.3	deleterious(0.01)		7/16		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF206,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	157332925	157332925	G	T	1	0	0	0	0	1	0	0	0	6648	1377	48	2		2	GRIA2	4	157332925	Missense_Mutation	SNP	G	C3L-02365_TP	13633996	157332925	32881630	105	9581											
TRAPPC11	0	.	GRCh38	chr4	183663929	183663929	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggcctatggcctttgttaCtctaacgggcctggatgtag	6	12	12	11	2	1	0	0	0	1	0	1	1	1	1	4	4	2	2	4	4	4	5	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.62C>G	p.Thr21Ser	p.T21S	ENST00000334690	2/30	336	294	42	278	278	0	strelka-varscan-mutect	TRAPPC11,missense_variant,p.Thr21Ser,ENST00000334690,NM_021942.5;TRAPPC11,missense_variant,p.Thr21Ser,ENST00000357207,NM_199053.2;RWDD4,upstream_gene_variant,,ENST00000326397,NM_152682.2;RWDD4,upstream_gene_variant,,ENST00000327570,;RWDD4,upstream_gene_variant,,ENST00000510968,;RWDD4,upstream_gene_variant,,ENST00000512740,NM_001307922.1;TRAPPC11,non_coding_transcript_exon_variant,,ENST00000504526,;TRAPPC11,upstream_gene_variant,,ENST00000511409,;TRAPPC11,missense_variant,p.Thr21Ser,ENST00000505676,;RWDD4,upstream_gene_variant,,ENST00000510702,;RWDD4,upstream_gene_variant,,ENST00000514322,;TRAPPC11,upstream_gene_variant,,ENST00000509857,;TRAPPC11,upstream_gene_variant,,ENST00000513600,;	G	ENST00000334690	Transcript	missense_variant	264/4552	62/3402	21/1133	T/S	aCt/aGt		1		1	TRAPPC11	HGNC	HGNC:25751	protein_coding	YES	CCDS34112.1	ENSP00000335371	Q7Z392		UPI000020B774	NM_021942.5	tolerated(0.05)		2/30		hmmpanther:PTHR14374																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	183663929	183663929	C	G	1	0	0	0	0	1	0	0	0	16941	565	20	4		4	TRAPPC11	4	183663929	Missense_Mutation	SNP	C	C3L-02365_TP	26331004	183663929	6550626	106	9582											
FBXL7	0	.	GRCh38	chr5	15928082	15928082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catccggctcgcctccagacCccagaaggagcaggccagca	10	3	11	17	2	0	2	0	0	0	2	3	3	2	3	6	3	2	3	6	3	1	0	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.320C>A	p.Pro107His	p.P107H	ENST00000504595	3/4	259	217	42	95	95	0	strelka-varscan-mutect	FBXL7,missense_variant,p.Pro107His,ENST00000504595,NM_012304.4;FBXL7,missense_variant,p.Pro65His,ENST00000329673,;FBXL7,missense_variant,p.Pro60His,ENST00000510662,NM_001278317.1;	A	ENST00000504595	Transcript	missense_variant	801/4562	320/1476	107/491	P/H	cCc/cAc		1		1	FBXL7	HGNC	HGNC:13604	protein_coding	YES	CCDS54833.1	ENSP00000423630	Q9UJT9		UPI00000724E0	NM_012304.4	tolerated(0.57)		3/4		hmmpanther:PTHR24006,Superfamily_domains:SSF81383																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	15928082	15928082	C	A	1	0	0	0	0	1	0	0	0	5587	623	22	2		2	FBXL7	5	15928082	Missense_Mutation	SNP	C	C3L-02365_TP		15928082	165610177	107	9583											
C1QTNF3	0	.	GRCh38	chr5	34020667	34020667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgccattgcccattcgcagCcaaacctcatcccctttggc	7	9	7	18	2	1	0	1	0	0	0	3	0	2	0	6	1	3	1	6	1	1	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.876G>C	p.Trp292Cys	p.W292C	ENST00000382065	6/6	486	409	77	225	225	0	strelka-varscan-mutect	C1QTNF3,missense_variant,p.Trp292Cys,ENST00000382065,NM_181435.5;C1QTNF3,missense_variant,p.Trp219Cys,ENST00000231338,NM_030945.3;C1QTNF3,downstream_gene_variant,,ENST00000513065,;C1QTNF3-AMACR,missense_variant,p.Trp203Cys,ENST00000382079,;C1QTNF3,non_coding_transcript_exon_variant,,ENST00000508398,;C1QTNF3,non_coding_transcript_exon_variant,,ENST00000513471,;	G	ENST00000382065	Transcript	missense_variant	1583/2802	876/960	292/319	W/C	tgG/tgC		1		-1	C1QTNF3	HGNC	HGNC:14326	protein_coding	YES	CCDS34141.1	ENSP00000371497	Q9BXJ4		UPI0000052243	NM_181435.5	deleterious(0)		6/6		PROSITE_profiles:PS50871,hmmpanther:PTHR22923:SF54,hmmpanther:PTHR22923,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	34020667	34020667	C	G	1	0	0	0	0	1	0	0	0	1942	740	26	4		4	C1QTNF3	5	34020667	Missense_Mutation	SNP	C	C3L-02365_TP	18092585	34020667	147517592	108	9584											
NIPBL	0	.	GRCh38	chr5	37000847	37000847	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagaaaaaagaaaaacAgaagaaaaggaaagcatatg	27	3	9	2	0	0	5	0	1	0	4	0	6	0	6	0	1	2	1	0	1	12	1	rs772932503		C3L-02365_TP	C3L-02365_NB	A	A																c.3533A>T	p.Gln1178Leu	p.Q1178L	ENST00000282516	13/47	570	475	95	283	283	0	strelka-varscan-mutect	NIPBL,missense_variant,p.Gln1178Leu,ENST00000282516,NM_133433.3;NIPBL,missense_variant,p.Gln1178Leu,ENST00000448238,NM_015384.4;NIPBL,intron_variant,,ENST00000621733,;NIPBL,downstream_gene_variant,,ENST00000504430,;NIPBL,downstream_gene_variant,,ENST00000503274,;NIPBL,downstream_gene_variant,,ENST00000509429,;	T	ENST00000282516	Transcript	missense_variant	4032/10435	3533/8415	1178/2804	Q/L	cAg/cTg	rs772932503	1		1	NIPBL	HGNC	HGNC:28862	protein_coding	YES	CCDS3920.1	ENSP00000282516	Q6KC79		UPI00003761B5	NM_133433.3	tolerated(0.11)		13/47		hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs772932503	.												T	3	4	34	37000847	37000847	A	T	1	0	0	0	0	1	0	0	0	10463	188	7	4		4	NIPBL	5	37000847	Missense_Mutation	SNP	A	C3L-02365_TP	2980180	37000847	144537412	109	9585											
NIPBL	0	.	GRCh38	chr5	37058945	37058945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcacctagtaaggaaaatGagtcaagcgacagtgaagaa	18	6	10	7	1	2	3	2	2	0	1	2	5	2	4	1	1	1	1	1	1	7	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.7465G>C	p.Glu2489Gln	p.E2489Q	ENST00000282516	44/47	388	351	37	228	228	0	strelka-varscan-mutect	NIPBL,missense_variant,p.Glu2489Gln,ENST00000282516,NM_133433.3;NIPBL,missense_variant,p.Glu2489Gln,ENST00000448238,NM_015384.4;NIPBL,missense_variant,p.Glu15Gln,ENST00000513819,;NIPBL,intron_variant,,ENST00000621733,;NIPBL,non_coding_transcript_exon_variant,,ENST00000514335,;	C	ENST00000282516	Transcript	missense_variant	7964/10435	7465/8415	2489/2804	E/Q	Gag/Cag		1		1	NIPBL	HGNC	HGNC:28862	protein_coding	YES	CCDS3920.1	ENSP00000282516	Q6KC79		UPI00003761B5	NM_133433.3	tolerated(0.5)		44/47		hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	37058945	37058945	G	C	1	0	0	0	0	1	0	0	0	10463	1291	45	4		4	NIPBL	5	37058945	Missense_Mutation	SNP	G	C3L-02365_TP	58098	37058945	144479314	110	9586											
ANXA2R	0	.	GRCh38	chr5	43039490	43039490	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttagctccacagatcCgtgaacagcacgcccagagt	10	7	10	14	2	0	3	0	1	0	2	2	3	2	3	3	0	4	4	3	0	2	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.557G>C	p.Arg186Pro	p.R186P	ENST00000314890	2/2	90	39	51	32	32	0	strelka-varscan-mutect	ANXA2R,missense_variant,p.Arg186Pro,ENST00000314890,;ANXA2R,missense_variant,p.Arg186Pro,ENST00000616064,NM_001014279.2;CTD-2035E11.4,downstream_gene_variant,,ENST00000607830,;CTD-2201E18.3,intron_variant,,ENST00000503152,;AC025171.1,upstream_gene_variant,,ENST00000451894,;AC025171.1,upstream_gene_variant,,ENST00000505541,;AC025171.1,upstream_gene_variant,,ENST00000399543,;AC025171.1,upstream_gene_variant,,ENST00000508913,;AC025171.1,upstream_gene_variant,,ENST00000515108,;	G	ENST00000314890	Transcript	missense_variant	1977/2234	557/582	186/193	R/P	cGg/cCg		1		-1	ANXA2R	HGNC	HGNC:33463	protein_coding	YES	CCDS34153.1	ENSP00000315915	Q3ZCQ2		UPI0000072CD4		tolerated(0.34)		2/2		Pfam_domain:PF15721,hmmpanther:PTHR38820																	MODERATE		SNV	3			1										PASS		rs1252874440	.												G	3	3	34	43039490	43039490	C	G	1	0	0	0	0	1	0	0	0	826	652	23	4		4	ANXA2R	5	43039490	Missense_Mutation	SNP	C	C3L-02365_TP	5980545	43039490	138498769	111	9587											
HCN1	0	.	GRCh38	chr5	45262468	45262468	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgagcggccagagggctcTgtacaggagggctgcagacc	8	6	16	11	2	1	2	0	0	1	2	2	4	1	3	2	4	3	4	2	4	1	2	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.2126A>T	p.Gln709Leu	p.Q709L	ENST00000303230	8/8	318	292	26	147	147	0	strelka-varscan-mutect	HCN1,missense_variant,p.Gln709Leu,ENST00000303230,NM_021072.3;HCN1,non_coding_transcript_exon_variant,,ENST00000637305,;	A	ENST00000303230	Transcript	missense_variant	2367/9885	2126/2673	709/890	Q/L	cAg/cTg		1		-1	HCN1	HGNC	HGNC:4845	protein_coding	YES	CCDS3952.1	ENSP00000307342	O60741		UPI00001AED69	NM_021072.3	deleterious_low_confidence(0.01)		8/8		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	45262468	45262468	T	A	1	0	0	0	0	1	0	0	0	6883	1580	55	4		4	HCN1	5	45262468	Missense_Mutation	SNP	T	C3L-02365_TP	2222978	45262468	136275791	112	9588											
SV2C	0	.	GRCh38	chr5	76291836	76291836	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaataaagcttacaattgtTtggttcaccctgtcctttgg	10	15	7	9	0	1	0	1	0	0	0	2	0	2	0	2	2	2	3	2	2	5	6	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.1317T>A	p.=	p.V439V	ENST00000502798	8/13	105	93	12	170	170	0	strelka-varscan-mutect	SV2C,synonymous_variant,p.=,ENST00000502798,NM_014979.3;SV2C,synonymous_variant,p.=,ENST00000322285,NM_001297716.1;RP11-466P24.6,intron_variant,,ENST00000502589,;SV2C,non_coding_transcript_exon_variant,,ENST00000506257,;	A	ENST00000502798	Transcript	synonymous_variant	1759/11035	1317/2184	439/727	V	gtT/gtA		1		1	SV2C	HGNC	HGNC:30670	protein_coding	YES	CCDS43331.1	ENSP00000423541	Q496J9		UPI000011DDBB	NM_014979.3			8/13		PROSITE_profiles:PS50850,hmmpanther:PTHR23511:SF6,hmmpanther:PTHR23511,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR01299,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	76291836	76291836	T	A	1	0	0	0	0	0	0	0	1	15803	1828	64	4		4	SV2C	5	76291836	Silent	SNP	T	C3L-02365_TP	31029368	76291836	105246423	113	9589											
ACOT12	0	.	GRCh38	chr5	81345967	81345967	+	Missense_Mutation	SNP	C	C	G																															tccccggaacttaaacatatCtacggacttcagaaagggat																										C3L-02365_TP	C3L-02365_NB	C	C																c.691G>C	p.Asp231His	p.D231H	ENST00000307624	7/15	257	225	32	327	327	0	strelka-varscan-mutect	ACOT12,missense_variant,p.Asp231His,ENST00000307624,NM_130767.2;ACOT12,upstream_gene_variant,,ENST00000508234,;	G	ENST00000307624	Transcript	missense_variant	720/2086	691/1668	231/555	D/H	Gat/Cat	COSM1671735	1		-1	ACOT12	HGNC	HGNC:24436	protein_coding	YES	CCDS4055.1	ENSP00000303246	Q8WYK0		UPI0000126D7B	NM_130767.2	deleterious(0)		7/15		Gene3D:3.10.129.10,Pfam_domain:PF03061,PROSITE_profiles:PS51770,hmmpanther:PTHR11049,hmmpanther:PTHR11049:SF3,Superfamily_domains:SSF54637											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	34	81345967	81345967	C	G	1	0	0	0	0	1	0	0	0	192	913	32	4		4	ACOT12	5	81345967	Missense_Mutation	SNP	C	C3L-02365_TP	5054131	81345967	100192292	114	9590	216	2									
ACOT12	0	.	GRCh38	chr5	81345969	81345969	+	Missense_Mutation	SNP	A	A	T																															cccggaacttaaacatatctAcggacttcagaaagggatga																								rs746428835		C3L-02365_TP	C3L-02365_NB	A	A																c.689T>A	p.Val230Glu	p.V230E	ENST00000307624	7/15	254	222	32	321	320	1	strelka-varscan-mutect	ACOT12,missense_variant,p.Val230Glu,ENST00000307624,NM_130767.2;ACOT12,upstream_gene_variant,,ENST00000508234,;	T	ENST00000307624	Transcript	missense_variant	718/2086	689/1668	230/555	V/E	gTa/gAa	rs746428835	1		-1	ACOT12	HGNC	HGNC:24436	protein_coding	YES	CCDS4055.1	ENSP00000303246	Q8WYK0		UPI0000126D7B	NM_130767.2	deleterious(0)		7/15		Gene3D:3.10.129.10,Pfam_domain:PF03061,PROSITE_profiles:PS51770,hmmpanther:PTHR11049,hmmpanther:PTHR11049:SF3,Superfamily_domains:SSF54637																	MODERATE	1	SNV	1			1										PASS		rs746428835	.												T	3	4	34	81345969	81345969	A	T	1	0	0	0	0	1	0	0	0	192	391	14	4		4	ACOT12	5	81345969	Missense_Mutation	SNP	A	C3L-02365_TP	2	81345969	100192290	115	9591	216	2									
VCAN	0	.	GRCh38	chr5	83537024	83537024	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcgaatgagtgatttgAgtgtaattggtcatccaata	12	13	11	5	1	1	3	1	3	0	0	3	4	2	3	1	2	0	1	1	2	4	4	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.4021A>G	p.Ser1341Gly	p.S1341G	ENST00000265077	8/15	51	29	22	72	72	0	strelka-varscan-mutect	VCAN,missense_variant,p.Ser1341Gly,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Ser354Gly,ENST00000343200,NM_001164097.1;VCAN,missense_variant,p.Ser354Gly,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,non_coding_transcript_exon_variant,,ENST00000515397,;	G	ENST00000265077	Transcript	missense_variant	4586/12625	4021/10191	1341/3396	S/G	Agt/Ggt		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	tolerated(0.09)		8/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	83537024	83537024	A	G	1	0	0	0	0	1	0	0	0	17683	304	11	5		5	VCAN	5	83537024	Missense_Mutation	SNP	A	C3L-02365_TP	2191055	83537024	98001235	116	9592											
VCAN	0	.	GRCh38	chr5	83537934	83537934	+	Frame_Shift_Del	DEL	A	A	-																															aattacagaaggctctggagAagcagaagaagatgaagata																								novel		C3L-02365_TP	C3L-02365_NB	A	A																c.4932delA	p.Ala1645GlnfsTer12	p.A1645Qfs*12	ENST00000265077	8/15	209	138	71	336	336	0	sindel-varindel	VCAN,frameshift_variant,p.Ala1645GlnfsTer12,ENST00000265077,NM_004385.4;VCAN,frameshift_variant,p.Ala658GlnfsTer12,ENST00000343200,NM_001164097.1;VCAN,frameshift_variant,p.Ala658GlnfsTer12,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	-	ENST00000265077	Transcript	frameshift_variant	5496/12625	4931/10191	1644/3396	E/X	gAa/ga		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4			8/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	34	83537934	83537934	A	-	1	0	1	0	1	0	0	0	0	17683	246	9	0		0	VCAN	5	83537934	Frame_Shift_Del	DEL	A	C3L-02365_TP	910	83537934	98000325	117	9593	217	2									
VCAN	0	.	GRCh38	chr5	83537936	83537936	+	Missense_Mutation	SNP	G	G	C																															ttacagaaggctctggagaaGcagaagaagatgaagataca																								novel		C3L-02365_TP	C3L-02365_NB	G	G																c.4933G>C	p.Ala1645Pro	p.A1645P	ENST00000265077	8/15	238	155	83	341	341	0	strelka-mutect	VCAN,missense_variant,p.Ala1645Pro,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Ala658Pro,ENST00000343200,NM_001164097.1;VCAN,missense_variant,p.Ala658Pro,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	C	ENST00000265077	Transcript	missense_variant	5498/12625	4933/10191	1645/3396	A/P	Gca/Cca		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	tolerated(0.1)		8/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	83537936	83537936	G	C	1	0	0	0	0	1	0	0	0	17683	971	34	4		4	VCAN	5	83537936	Missense_Mutation	SNP	G	C3L-02365_TP	2	83537936	98000323	118	9594	217	2									
EDIL3	0	.	GRCh38	chr5	83943424	83943424	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatgtagcctcccctcattCctcctctgtgcagcccagca	8	10	6	17	0	2	0	1	0	1	0	5	0	5	0	6	0	4	3	6	0	2	2			C3L-02365_TP	C3L-02365_NB	C	C																c.1438G>T	p.Glu480Ter	p.E480*	ENST00000296591	11/11	357	307	50	462	460	2	strelka-varscan-mutect	EDIL3,stop_gained,p.Glu480Ter,ENST00000296591,NM_005711.4;EDIL3,stop_gained,p.Glu470Ter,ENST00000380138,NM_001278642.1;	A	ENST00000296591	Transcript	stop_gained	1857/4727	1438/1443	480/480	E/*	Gaa/Taa	COSM1721861	1		-1	EDIL3	HGNC	HGNC:3173	protein_coding	YES	CCDS4062.1	ENSP00000296591	O43854		UPI000004D126	NM_005711.4			11/11		hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	34	83943424	83943424	C	A	1	0	0	0	0	0	1	0	0	4743	864	30	2		2	EDIL3	5	83943424	Nonsense_Mutation	SNP	C	C3L-02365_TP	405488	83943424	97594835	119	9595											
EDIL3	0	.	GRCh38	chr5	84064735	84064735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaagttccattcgcaaaGtgcaatgtcttcgacaaact	14	10	7	10	2	1	1	0	0	1	1	4	2	2	1	1	0	2	3	1	0	5	3	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.917C>T	p.Thr306Ile	p.T306I	ENST00000296591	8/11	105	69	36	124	124	0	strelka-varscan-mutect	EDIL3,missense_variant,p.Thr306Ile,ENST00000296591,NM_005711.4;EDIL3,missense_variant,p.Thr296Ile,ENST00000380138,NM_001278642.1;EDIL3,non_coding_transcript_exon_variant,,ENST00000510271,;	A	ENST00000296591	Transcript	missense_variant	1336/4727	917/1443	306/480	T/I	aCt/aTt		1		-1	EDIL3	HGNC	HGNC:3173	protein_coding	YES	CCDS4062.1	ENSP00000296591	O43854		UPI000004D126	NM_005711.4	deleterious(0)		8/11		PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127,PROSITE_patterns:PS01286,Pfam_domain:PF00754,Gene3D:2.60.120.260,SMART_domains:SM00231,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	84064735	84064735	G	A	1	0	0	0	0	1	0	0	0	4743	1029	36	3		3	EDIL3	5	84064735	Missense_Mutation	SNP	G	C3L-02365_TP	121311	84064735	97473524	120	9596											
COX7C	0	.	GRCh38	chr5	86620672	86620672	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttttattttgcagatatGaagagcattttaagaggtgc	11	17	10	3	0	0	4	0	1	0	3	0	4	0	4	0	1	3	3	0	1	4	8	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.170G>A	p.=	p.*57*	ENST00000515763	3/3	62	53	9	108	108	0	strelka-varscan-mutect	COX7C,stop_retained_variant,p.=,ENST00000515763,;COX7C,3_prime_UTR_variant,,ENST00000509578,;COX7C,3_prime_UTR_variant,,ENST00000247655,NM_001867.2;COX7C,downstream_gene_variant,,ENST00000637229,;COX7C,non_coding_transcript_exon_variant,,ENST00000513124,;COX7C,non_coding_transcript_exon_variant,,ENST00000510447,;COX7C,non_coding_transcript_exon_variant,,ENST00000505430,;COX7C,non_coding_transcript_exon_variant,,ENST00000511472,;	A	ENST00000515763	Transcript	stop_retained_variant	253/347	170/171	57/56	*	tGa/tAa		1		1	COX7C	HGNC	HGNC:2292	protein_coding			ENSP00000422012		D6R9Z7	UPI0000E1FF53				3/3																			LOW		SNV	4			1										PASS		.	.												A	2	1	34	86620672	86620672	G	A	1	0	0	0	0	0	0	0	1	3579	1304	45	3		3	COX7C	5	86620672	Silent	SNP	G	C3L-02365_TP	2555937	86620672	94917587	121	9597											
NR2F1	0	.	GRCh38	chr5	93585034	93585034	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccaaagatatggcaatggTagttagcagctggcgagatc	12	8	13	8	1	0	2	0	0	0	2	1	3	0	2	1	3	2	5	1	3	5	3	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.11T>G	p.Val4Gly	p.V4G	ENST00000327111	1/3	23	9	14	19	19	0	strelka-mutect	NR2F1,missense_variant,p.Val4Gly,ENST00000327111,NM_005654.5;NR2F1,missense_variant,p.Val4Gly,ENST00000615873,;NR2F1-AS1,intron_variant,,ENST00000513055,;NR2F1-AS1,upstream_gene_variant,,ENST00000504474,;NR2F1-AS1,upstream_gene_variant,,ENST00000606696,;NR2F1-AS1,upstream_gene_variant,,ENST00000606233,;NR2F1-AS1,upstream_gene_variant,,ENST00000503134,;NR2F1-AS1,upstream_gene_variant,,ENST00000507963,;NR2F1-AS1,upstream_gene_variant,,ENST00000510254,;NR2F1,upstream_gene_variant,,ENST00000502982,;NR2F1,upstream_gene_variant,,ENST00000512697,;	G	ENST00000327111	Transcript	missense_variant	1698/3732	11/1272	4/423	V/G	gTa/gGa		1		1	NR2F1	HGNC	HGNC:7975	protein_coding	YES	CCDS4068.1	ENSP00000325819	P10589		UPI0000000C58	NM_005654.5	deleterious_low_confidence(0)		1/3		hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF46																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	93585034	93585034	T	G	1	0	0	0	0	1	0	0	0	10683	1638	57	5		5	NR2F1	5	93585034	Missense_Mutation	SNP	T	C3L-02365_TP	6964362	93585034	87953225	122	9598											
KCNN2	0	.	GRCh38	chr5	114496095	114496095	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagctacgacaagcacgtCacttacaatgctgagcggtc	12	7	11	11	3	1	2	1	1	0	1	2	4	1	2	0	1	6	3	0	1	4	2	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1653C>T	p.=	p.V551V	ENST00000512097	9/9	299	258	41	361	361	0	strelka-varscan-mutect	KCNN2,synonymous_variant,p.=,ENST00000512097,;KCNN2,synonymous_variant,p.=,ENST00000264773,NM_021614.3;KCNN2,synonymous_variant,p.=,ENST00000631899,;KCNN2,synonymous_variant,p.=,ENST00000610748,NM_001278204.1;KCNN2,synonymous_variant,p.=,ENST00000503706,NM_170775.2;RP11-492A10.1,splice_region_variant,,ENST00000514115,;KCNN2,downstream_gene_variant,,ENST00000507750,;KCNN2,downstream_gene_variant,,ENST00000505491,;KCNN2,downstream_gene_variant,,ENST00000506812,;KCNN2,downstream_gene_variant,,ENST00000632892,;	T	ENST00000512097	Transcript	synonymous_variant	2671/3076	1653/1740	551/579	V	gtC/gtT		1		1	KCNN2	HGNC	HGNC:6291	protein_coding	YES	CCDS4114.1	ENSP00000427120	Q9H2S1		UPI000013D56A				9/9		hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF43																	LOW	1	SNV	5			1										PASS		rs1455162701	.												T	2	4	34	114496095	114496095	C	T	1	0	0	0	0	0	0	0	1	7995	813	29	3		3	KCNN2	5	114496095	Silent	SNP	C	C3L-02365_TP	20911061	114496095	67042164	123	9599											
SLC4A9	0	.	GRCh38	chr5	140371131	140371131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctctatggcatcttcctgTatatgggggtggcagcgctc	5	13	13	10	1	2	0	0	0	2	0	4	0	3	0	1	4	2	5	1	4	3	4	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.2536T>C	p.Tyr846His	p.Y846H	ENST00000507527	18/22	171	99	72	192	192	0	strelka-varscan-mutect	SLC4A9,missense_variant,p.Tyr822His,ENST00000506757,NM_031467.2;SLC4A9,missense_variant,p.Tyr846His,ENST00000507527,NM_001258428.1;SLC4A9,missense_variant,p.Tyr808His,ENST00000432095,NM_001258426.1;SLC4A9,missense_variant,p.Tyr759His,ENST00000506545,NM_001258427.1;CTC-329D1.2,non_coding_transcript_exon_variant,,ENST00000507521,;SLC4A9,upstream_gene_variant,,ENST00000504742,;SLC4A9,downstream_gene_variant,,ENST00000514849,;	C	ENST00000507527	Transcript	missense_variant	2558/3258	2536/2952	846/983	Y/H	Tat/Cat		1		1	SLC4A9	HGNC	HGNC:11035	protein_coding	YES	CCDS58973.1	ENSP00000427661	Q96Q91		UPI000018336F	NM_001258428.1	tolerated(0.11)		18/22		Transmembrane_helices:TMhelix,hmmpanther:PTHR11453:SF52,hmmpanther:PTHR11453,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	140371131	140371131	T	C	1	0	0	0	0	1	0	0	0	14937	1638	57	5		5	SLC4A9	5	140371131	Missense_Mutation	SNP	T	C3L-02365_TP	25875036	140371131	41167128	124	9600											
PCDHA2	0	.	GRCh38	chr5	140795947	140795947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaactgacaaaggaacccCttcaatgtcaggacattgta	14	9	8	10	0	2	1	2	1	0	0	2	3	2	3	2	2	3	2	2	2	5	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.983C>T	p.Pro328Leu	p.P328L	ENST00000526136	1/4	223	173	50	255	255	0	strelka-varscan-mutect	PCDHA2,missense_variant,p.Pro328Leu,ENST00000526136,NM_018905.2;PCDHA2,missense_variant,p.Pro328Leu,ENST00000520672,NM_031496.1;PCDHA2,missense_variant,p.Pro328Leu,ENST00000378132,NM_031495.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,intron_variant,,ENST00000624176,;	T	ENST00000526136	Transcript	missense_variant	983/5254	983/2847	328/948	P/L	cCt/cTt		1		1	PCDHA2	HGNC	HGNC:8668	protein_coding	YES	CCDS54914.1	ENSP00000431748	Q9Y5H9		UPI00001273C9	NM_018905.2	tolerated_low_confidence(0.28)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	140795947	140795947	C	T	1	0	0	0	0	1	0	0	0	11611	681	24	3		3	PCDHA2	5	140795947	Missense_Mutation	SNP	C	C3L-02365_TP	424816	140795947	40742312	125	9601											
PCDHA5	0	.	GRCh38	chr5	140822827	140822827	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taataccccagagatggccaTaaccacccttttcctgcctg	10	10	6	15	0	0	1	0	0	0	1	1	2	1	1	7	1	3	0	7	1	3	5	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.1052T>A	p.Ile351Lys	p.I351K	ENST00000529859	1/4	168	99	69	215	215	0	strelka-varscan-mutect	PCDHA5,missense_variant,p.Ile351Lys,ENST00000529859,NM_018908.2;PCDHA5,missense_variant,p.Ile351Lys,ENST00000614258,NM_031501.1;PCDHA5,missense_variant,p.Ile351Lys,ENST00000529619,;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA4,intron_variant,,ENST00000512229,;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,upstream_gene_variant,,ENST00000624712,;	A	ENST00000529859	Transcript	missense_variant	1052/5218	1052/2811	351/936	I/K	aTa/aAa		1		1	PCDHA5	HGNC	HGNC:8671	protein_coding	YES	CCDS54917.1	ENSP00000436557	Q9Y5H7		UPI00001273CD	NM_018908.2	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	140822827	140822827	T	A	1	0	0	0	0	1	0	0	0	11614	1406	49	4		4	PCDHA5	5	140822827	Missense_Mutation	SNP	T	C3L-02365_TP	26880	140822827	40715432	126	9602											
PCDHB3	0	.	GRCh38	chr5	141102876	141102876	+	Missense_Mutation	SNP	G	G	T																															tggtggacgtgagcggcaccGggaccctgtcccagagctac																								novel		C3L-02365_TP	C3L-02365_NB	G	G																c.2227G>T	p.Gly743Trp	p.G743W	ENST00000231130	1/1	152	131	21	192	191	1	varscan-mutect	PCDHB3,missense_variant,p.Gly743Trp,ENST00000231130,NM_018937.4;PCDHB3,missense_variant,p.Gly19Trp,ENST00000624513,;PCDHB2,downstream_gene_variant,,ENST00000194155,NM_018936.3;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;AC005754.7,upstream_gene_variant,,ENST00000607216,;	T	ENST00000231130	Transcript	missense_variant	2404/3355	2227/2391	743/796	G/W	Ggg/Tgg		1		1	PCDHB3	HGNC	HGNC:8688	protein_coding	YES	CCDS4245.1	ENSP00000231130	Q9Y5E6		UPI0003CC25DF	NM_018937.4	deleterious_low_confidence(0)		1/1		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77																	MODERATE		SNV				1										PASS		.	.												T	3	4	34	141102876	141102876	G	T	1	0	0	0	0	1	0	0	0	11630	1116	39	1		1	PCDHB3	5	141102876	Missense_Mutation	SNP	G	C3L-02365_TP	280049	141102876	40435383	127	9603	218	2									
PCDHB3	0	.	GRCh38	chr5	141102877	141102877	+	Missense_Mutation	SNP	G	G	T																															ggtggacgtgagcggcaccgGgaccctgtcccagagctacc																								rs200991982		C3L-02365_TP	C3L-02365_NB	G	G																c.2228G>T	p.Gly743Val	p.G743V	ENST00000231130	1/1	152	130	22	193	193	0	varscan-mutect	PCDHB3,missense_variant,p.Gly743Val,ENST00000231130,NM_018937.4;PCDHB3,missense_variant,p.Gly19Val,ENST00000624513,;PCDHB2,downstream_gene_variant,,ENST00000194155,NM_018936.3;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;AC005754.7,upstream_gene_variant,,ENST00000607216,;	T	ENST00000231130	Transcript	missense_variant	2405/3355	2228/2391	743/796	G/V	gGg/gTg	rs200991982	1		1	PCDHB3	HGNC	HGNC:8688	protein_coding	YES	CCDS4245.1	ENSP00000231130	Q9Y5E6		UPI0003CC25DF	NM_018937.4	deleterious_low_confidence(0)		1/1		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77																	MODERATE		SNV				1										PASS		rs200991982	.												T	3	4	34	141102877	141102877	G	T	1	0	0	0	0	1	0	0	0	11630	1232	43	2		2	PCDHB3	5	141102877	Missense_Mutation	SNP	G	C3L-02365_TP	1	141102877	40435382	128	9604	218	2									
PCDHGA3	0	.	GRCh38	chr5	141344286	141344286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atccgcaaagcggcagcttgGtcaccgcggagaggatagac	11	5	14	11	4	1	2	1	0	0	2	2	4	2	3	2	4	2	3	2	4	2	2	rs776109013		C3L-02365_TP	C3L-02365_NB	G	G																c.253G>T	p.Val85Phe	p.V85F	ENST00000253812	1/4	186	161	25	205	205	0	strelka-varscan-mutect	PCDHGA3,missense_variant,p.Val85Phe,ENST00000253812,NM_018916.3;PCDHGA3,missense_variant,p.Val85Phe,ENST00000619750,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA2,downstream_gene_variant,,ENST00000528330,NM_032009.2;PCDHGA3,missense_variant,p.Val85Phe,ENST00000612467,;	T	ENST00000253812	Transcript	missense_variant	419/4771	253/2799	85/932	V/F	Gtc/Ttc	rs776109013	1		1	PCDHGA3	HGNC	HGNC:8701	protein_coding	YES	CCDS47290.1	ENSP00000253812	Q9Y5H0		UPI0000161C1A	NM_018916.3	deleterious_low_confidence(0)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF08266,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF75,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs776109013	.												T	3	4	34	141344286	141344286	G	T	1	0	0	0	0	1	0	0	0	11642	1261	44	2		2	PCDHGA3	5	141344286	Missense_Mutation	SNP	G	C3L-02365_TP	241409	141344286	40193973	129	9605											
PCDHGA5	0	.	GRCh38	chr5	141366419	141366419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctatcttgtggtggcaGtggctgcagtctcctgcgtc	4	13	12	12	1	3	0	0	0	3	0	5	0	3	0	1	3	2	3	1	3	1	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.2089G>T	p.Val697Leu	p.V697L	ENST00000518069	1/4	215	128	87	276	276	0	strelka-varscan-mutect	PCDHGA5,missense_variant,p.Val697Leu,ENST00000518069,NM_018918.2;PCDHGA5,missense_variant,p.Val697Leu,ENST00000611914,NM_032054.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB3,upstream_gene_variant,,ENST00000576222,NM_018924.4;PCDHGB2,downstream_gene_variant,,ENST00000622527,NM_032096.1;PCDHGB3,upstream_gene_variant,,ENST00000618934,NM_032097.2;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000518069	Transcript	missense_variant	2089/4602	2089/2796	697/931	V/L	Gtg/Ttg		1		1	PCDHGA5	HGNC	HGNC:8703	protein_coding	YES	CCDS54925.1	ENSP00000429834	Q9Y5G8		UPI000006CD9F	NM_018918.2	deleterious_low_confidence(0.02)		1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105,Pfam_domain:PF16492,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	141366419	141366419	G	T	1	0	0	0	0	1	0	0	0	11644	1029	36	2		2	PCDHGA5	5	141366419	Missense_Mutation	SNP	G	C3L-02365_TP	22133	141366419	40171840	130	9606											
SLIT3	0	.	GRCh38	chr5	168762541	168762541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccgaggttggacttacagGtcggtgacatattcagggag	9	9	15	8	3	1	1	1	1	0	0	2	4	1	3	1	5	1	1	1	5	2	4	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1608C>A	p.Asp536Glu	p.D536E	ENST00000332966	15/36	97	76	21	103	103	0	strelka-varscan-mutect	SLIT3,missense_variant,p.Asp536Glu,ENST00000519560,NM_003062.3;SLIT3,missense_variant,p.Asp399Glu,ENST00000404867,;SLIT3,missense_variant,p.Asp536Glu,ENST00000332966,NM_001271946.1;SLIT3,splice_region_variant,,ENST00000519486,;	T	ENST00000332966	Transcript	missense_variant,splice_region_variant	1681/4895	1608/4593	536/1530	D/E	gaC/gaA		1		-1	SLIT3	HGNC	HGNC:11087	protein_coding	YES	CCDS64311.1	ENSP00000332164	O75094		UPI0001E8F75D	NM_001271946.1	tolerated(1)		15/36		SMART_domains:SM00013,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	168762541	168762541	G	T	1	0	0	0	0	1	0	0	0	15032	1275	44	2		2	SLIT3	5	168762541	Missense_Mutation	SNP	G	C3L-02365_TP	27396122	168762541	12775718	131	9607											
NSD1	0	.	GRCh38	chr5	177238452	177238452	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgtgcctgtggctccGgaagtctctccacggcctgc	3	12	12	14	2	2	0	0	0	2	0	5	1	4	1	4	3	2	1	4	3	1	1	rs770482812		C3L-02365_TP	C3L-02365_NB	G	G																c.4137G>T	p.=	p.P1379P	ENST00000439151	7/23	166	106	60	224	224	0	strelka-varscan-mutect	NSD1,synonymous_variant,p.=,ENST00000439151,NM_022455.4;NSD1,synonymous_variant,p.=,ENST00000354179,NM_172349.2;NSD1,synonymous_variant,p.=,ENST00000347982,;NSD1,intron_variant,,ENST00000375350,;	T	ENST00000439151	Transcript	synonymous_variant	4182/12892	4137/8091	1379/2696	P	ccG/ccT	rs770482812	1		1	NSD1	HGNC	HGNC:14234	protein_coding	YES	CCDS4412.1	ENSP00000395929	Q96L73		UPI000006F9C6	NM_022455.4			7/23																			LOW	1	SNV	1			1										PASS		rs770482812	.												T	2	4	34	177238452	177238452	G	T	1	0	0	0	0	0	0	0	1	10728	1103	39	1		1	NSD1	5	177238452	Silent	SNP	G	C3L-02365_TP	8475911	177238452	4299807	132	9608											
JARID2	0	.	GRCh38	chr6	15374224	15374224	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggcagcatgcggaaggCattgctgggagcctgaaaac	13	5	15	8	1	0	2	0	1	0	1	0	4	0	4	1	4	5	4	1	4	4	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.153C>T	p.=	p.G51G	ENST00000341776	2/18	218	205	13	214	214	0	strelka-varscan-mutect	JARID2,synonymous_variant,p.=,ENST00000341776,NM_004973.3;JARID2,5_prime_UTR_variant,,ENST00000397311,NM_001267040.1;	T	ENST00000341776	Transcript	synonymous_variant	397/5755	153/3741	51/1246	G	ggC/ggT		1		1	JARID2	HGNC	HGNC:6196	protein_coding	YES	CCDS4533.1	ENSP00000341280	Q92833		UPI0000161C67	NM_004973.3			2/18																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	34	15374224	15374224	C	T	1	0	0	0	0	0	0	0	1	7859	697	25	3		3	JARID2	6	15374224	Silent	SNP	C	C3L-02365_TP		15374224	155431755	133	9609											
TRIM15	0	.	GRCh38	chr6	30172185	30172185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgccgctgagcgagatcCcgcgcggcgtgagagtcgcc	6	5	15	15	7	0	3	0	2	0	2	2	5	1	3	4	1	2	1	4	1	0	0	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1234C>A	p.Pro412Thr	p.P412T	ENST00000376694	7/7	255	122	133	177	177	0	strelka-varscan-mutect	TRIM15,missense_variant,p.Pro343Thr,ENST00000619857,;TRIM15,missense_variant,p.Pro412Thr,ENST00000376694,NM_033229.2;TRIM15,intron_variant,,ENST00000376688,;TRIM15,downstream_gene_variant,,ENST00000433744,;TRIM15,downstream_gene_variant,,ENST00000477944,;	A	ENST00000376694	Transcript	missense_variant	1703/2214	1234/1398	412/465	P/T	Ccg/Acg		1		1	TRIM15	HGNC	HGNC:16284	protein_coding	YES	CCDS4677.1	ENSP00000365884	Q9C019	Q5SRL0	UPI0000137066	NM_033229.2	deleterious(0)		7/7		Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF259,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	30172185	30172185	C	A	1	0	0	0	0	1	0	0	0	16979	623	22	2		2	TRIM15	6	30172185	Missense_Mutation	SNP	C	C3L-02365_TP	14797961	30172185	140633794	134	9610											
DHX16	0	.	GRCh38	chr6	30656709	30656709	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtatacaggcggaagcaCttccctgcagccacccgacc	9	5	11	16	3	0	0	0	0	0	0	1	2	1	1	4	3	4	3	4	3	3	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2199G>A	p.=	p.K733K	ENST00000376442	14/20	258	208	50	254	254	0	strelka-varscan-mutect	DHX16,synonymous_variant,p.=,ENST00000376442,NM_003587.4,NM_001164239.1;DHX16,synonymous_variant,p.=,ENST00000376437,;C6orf136,downstream_gene_variant,,ENST00000293604,NM_001161376.1;C6orf136,downstream_gene_variant,,ENST00000446773,;C6orf136,downstream_gene_variant,,ENST00000376473,NM_001109938.2;C6orf136,downstream_gene_variant,,ENST00000465699,;C6orf136,downstream_gene_variant,,ENST00000376471,NM_145029.3;C6orf136,downstream_gene_variant,,ENST00000467801,;C6orf136,downstream_gene_variant,,ENST00000468785,;DHX16,downstream_gene_variant,,ENST00000480966,;C6orf136,downstream_gene_variant,,ENST00000488383,;C6orf136,downstream_gene_variant,,ENST00000487873,;C6orf136,downstream_gene_variant,,ENST00000463794,;C6orf136,downstream_gene_variant,,ENST00000460172,;	T	ENST00000376442	Transcript	synonymous_variant	2395/3445	2199/3126	733/1041	K	aaG/aaA		1		-1	DHX16	HGNC	HGNC:2739	protein_coding	YES	CCDS4685.1	ENSP00000365625	O60231	Q5SQH4	UPI000000D73D	NM_003587.4,NM_001164239.1			14/20		PROSITE_profiles:PS51194,hmmpanther:PTHR18934:SF83,hmmpanther:PTHR18934,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	34	30656709	30656709	C	T	1	0	0	0	0	0	0	0	1	4306	564	20	3		3	DHX16	6	30656709	Silent	SNP	C	C3L-02365_TP	484524	30656709	140149270	135	9611											
TNF	0	.	GRCh38	chr6	31577294	31577294	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccacccatgtgctcctcacCcacaccatcagccgcatcgc	8	7	5	21	2	2	0	2	0	0	0	5	0	4	0	6	0	2	2	6	0	0	0	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.459C>A	p.=	p.T153T	ENST00000449264	4/4	412	213	199	299	299	0	strelka-varscan-mutect	TNF,synonymous_variant,p.=,ENST00000449264,NM_000594.3;LTA,downstream_gene_variant,,ENST00000454783,NM_001159740.2;LTA,downstream_gene_variant,,ENST00000418386,NM_000595.3;LTB,downstream_gene_variant,,ENST00000429299,NM_002341.1;LTB,downstream_gene_variant,,ENST00000446745,NM_009588.1;LTB,downstream_gene_variant,,ENST00000483972,;LTA,downstream_gene_variant,,ENST00000471842,;LTB,downstream_gene_variant,,ENST00000482429,;LTA,downstream_gene_variant,,ENST00000489638,;	A	ENST00000449264	Transcript	synonymous_variant	634/1676	459/702	153/233	T	acC/acA		1		1	TNF	HGNC	HGNC:11892	protein_coding	YES	CCDS4702.1	ENSP00000398698	P01375	Q5STB3	UPI000000D745	NM_000594.3			4/4		PROSITE_profiles:PS50049,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF23,Gene3D:2.60.120.40,Pfam_domain:PF00229,SMART_domains:SM00207,Superfamily_domains:SSF49842,Prints_domain:PR01234																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	31577294	31577294	C	A	1	0	0	0	0	0	0	0	1	16745	610	22	2		2	TNF	6	31577294	Silent	SNP	C	C3L-02365_TP	920585	31577294	139228685	136	9612											
VPS52	0	.	GRCh38	chr6	33271639	33271639	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagcccgcaacaccagttCccgggccgcagccgccatgg	7	3	11	20	4	0	0	0	0	0	0	1	0	1	0	7	2	3	3	7	2	1	1	rs753567778		C3L-02365_TP	C3L-02365_NB	C	C																c.37G>T	p.Glu13Ter	p.E13*	ENST00000445902	1/20	156	78	78	136	135	1	strelka-varscan-mutect	VPS52,stop_gained,p.Glu13Ter,ENST00000482399,;VPS52,stop_gained,p.Glu13Ter,ENST00000445902,NM_001289175.1,NM_001289174.1,NM_022553.5;RPS18,upstream_gene_variant,,ENST00000439602,NM_022551.2;RPS18,upstream_gene_variant,,ENST00000474973,;VPS52,intron_variant,,ENST00000478934,;VPS52,intron_variant,,ENST00000464425,;VPS52,intron_variant,,ENST00000463486,;RPS18,upstream_gene_variant,,ENST00000476222,;RPS18,upstream_gene_variant,,ENST00000472218,;RPS18,upstream_gene_variant,,ENST00000490191,;VPS52,upstream_gene_variant,,ENST00000493379,;RPS18,upstream_gene_variant,,ENST00000496813,;RPS18,upstream_gene_variant,,ENST00000474626,;VPS52,upstream_gene_variant,,ENST00000495755,;RPS18,upstream_gene_variant,,ENST00000479802,;	A	ENST00000445902	Transcript	stop_gained	256/2960	37/2172	13/723	E/*	Gaa/Taa	rs753567778	1		-1	VPS52	HGNC	HGNC:10518	protein_coding	YES	CCDS4770.2	ENSP00000409952	Q8N1B4	Q4VXZ2	UPI000006E468	NM_001289175.1,NM_001289174.1,NM_022553.5			1/20		hmmpanther:PTHR14190																	HIGH	1	SNV	1			1										PASS		rs753567778	.												A	4	1	34	33271639	33271639	C	A	1	0	0	0	0	0	1	0	0	17762	864	30	2		2	VPS52	6	33271639	Nonsense_Mutation	SNP	C	C3L-02365_TP	1694345	33271639	137534340	137	9613											
PKHD1	0	.	GRCh38	chr6	52025199	52025200	+	Frame_Shift_Ins	INS	-	-	A																															ccaagtctcttgtctggcacINSacaacgtggcttgcattaaa																								novel		C3L-02365_TP	C3L-02365_NB	-	-																c.4610dupT	p.Cys1538ValfsTer27	p.C1538Vfs*27	ENST00000371117	32/67	433	227	206	469	469	0	sindel-varindel-pindel	PKHD1,frameshift_variant,p.Cys1538ValfsTer27,ENST00000371117,NM_138694.3;PKHD1,frameshift_variant,p.Cys1538ValfsTer27,ENST00000340994,NM_170724.2;	A	ENST00000371117	Transcript	frameshift_variant	4886-4887/16282	4610-4611/12225	1537/4074	V/VX	gtg/gtTg		1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3			32/67		Gene3D:2.60.40.10,Pfam_domain:PF01833																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	34	52025199	52025199	-	A	1	0	1	1	0	0	0	0	0	12067	465	17	0		0	PKHD1	6	52025199	Frame_Shift_Ins	INS	-	C3L-02365_TP	18753560	52025199	118780780	138	9614											
DDX43	0	.	GRCh38	chr6	73395092	73395092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccggaggccgtggccGctggtcacgaggaactgccg	5	4	17	15	5	1	0	1	0	0	0	1	3	1	2	5	6	2	1	5	6	1	0			C3L-02365_TP	C3L-02365_NB	G	G																c.187G>A	p.Ala63Thr	p.A63T	ENST00000370336	1/17	359	301	58	307	307	0	strelka-varscan-mutect	DDX43,missense_variant,p.Ala63Thr,ENST00000370336,NM_018665.2;OOEP,5_prime_UTR_variant,,ENST00000370363,;OOEP,5_prime_UTR_variant,,ENST00000441145,;DDX43,non_coding_transcript_exon_variant,,ENST00000464221,;RPS6P8,upstream_gene_variant,,ENST00000421830,;	A	ENST00000370336	Transcript	missense_variant	345/2513	187/1947	63/648	A/T	Gct/Act	COSM5550299	1		1	DDX43	HGNC	HGNC:18677	protein_coding	YES	CCDS4977.1	ENSP00000359361	Q9NXZ2		UPI000013CA60	NM_018665.2	tolerated(0.28)		1/17													1						MODERATE	1	SNV	1		1	1										PASS		rs1293536394	.												A	3	1	34	73395092	73395092	G	A	1	0	0	0	0	1	0	0	0	4166	1101	38	1		1	DDX43	6	73395092	Missense_Mutation	SNP	G	C3L-02365_TP	21369893	73395092	97410887	139	9615											
KLHL32	0	.	GRCh38	chr6	97113976	97113976	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagagcatctatgcacAgcctgtctggcagactcgca	10	7	9	15	1	2	2	0	0	2	2	3	2	2	2	3	1	3	4	3	1	1	1	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.821A>T	p.Gln274Leu	p.Q274L	ENST00000369261	7/11	251	205	46	283	283	0	strelka-varscan-mutect	KLHL32,missense_variant,p.Gln238Leu,ENST00000536676,NM_001286250.1;KLHL32,missense_variant,p.Gln274Leu,ENST00000369261,NM_001323260.1,NM_052904.3;KLHL32,missense_variant,p.Gln205Leu,ENST00000539200,NM_001286251.1;KLHL32,3_prime_UTR_variant,,ENST00000447886,;KLHL32,intron_variant,,ENST00000544166,;KLHL32,intron_variant,,ENST00000620278,NM_001286254.1;KLHL32,intron_variant,,ENST00000369254,;	T	ENST00000369261	Transcript	missense_variant	1184/3698	821/1863	274/620	Q/L	cAg/cTg		1		1	KLHL32	HGNC	HGNC:21221	protein_coding	YES	CCDS5038.1	ENSP00000358265	Q96NJ5		UPI000020DFAB	NM_001323260.1,NM_052904.3	deleterious(0)		7/11		PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF65																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	34	97113976	97113976	A	T	1	0	0	0	0	1	0	0	0	8251	188	7	4		4	KLHL32	6	97113976	Missense_Mutation	SNP	A	C3L-02365_TP	23718884	97113976	73692003	140	9616											
BEND3	0	.	GRCh38	chr6	107069628	107069628	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttggagcggcgacccggCcgctcgccctcgaagctgtc	4	8	13	16	6	1	0	0	0	1	0	4	3	1	1	3	3	2	2	3	3	1	2	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1563G>T	p.=	p.R521R	ENST00000429433	5/5	286	202	84	269	269	0	strelka-varscan-mutect	BEND3,synonymous_variant,p.=,ENST00000429433,NM_001080450.2;BEND3,synonymous_variant,p.=,ENST00000369042,;	A	ENST00000429433	Transcript	synonymous_variant	2213/6654	1563/2487	521/828	R	cgG/cgT		1		-1	BEND3	HGNC	HGNC:23040	protein_coding	YES	CCDS34507.1	ENSP00000411268	Q5T5X7		UPI00001D80D7	NM_001080450.2			5/5		hmmpanther:PTHR28665																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	107069628	107069628	C	A	1	0	0	0	0	0	0	0	1	1547	726	26	2		2	BEND3	6	107069628	Silent	SNP	C	C3L-02365_TP	9955652	107069628	63736351	141	9617											
SOBP	0	.	GRCh38	chr6	107634041	107634041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgctgcccatcttcatGgagcagcagatcatgcagca	9	8	11	13	1	3	1	2	0	1	1	3	2	3	2	2	1	6	5	2	1	0	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1197G>T	p.Met399Ile	p.M399I	ENST00000317357	6/7	77	42	35	98	98	0	strelka-varscan-mutect	SOBP,missense_variant,p.Met399Ile,ENST00000317357,NM_018013.3;SOBP,upstream_gene_variant,,ENST00000494935,;	T	ENST00000317357	Transcript	missense_variant	1856/5245	1197/2622	399/873	M/I	atG/atT		1		1	SOBP	HGNC	HGNC:29256	protein_coding	YES	CCDS43488.1	ENSP00000318900	A7XYQ1		UPI0000E6A8ED	NM_018013.3	deleterious(0.01)		6/7		hmmpanther:PTHR23186:SF2,hmmpanther:PTHR23186,Pfam_domain:PF15279																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	34	107634041	107634041	G	T	1	0	0	0	0	1	0	0	0	15233	1348	47	2		2	SOBP	6	107634041	Missense_Mutation	SNP	G	C3L-02365_TP	564413	107634041	63171938	142	9618											
SNX3	0	.	GRCh38	chr6	108214583	108214583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcctctaaaaggaagctGacgcaaaaacgctttcccag	14	8	7	12	2	2	1	0	1	2	0	4	2	3	2	2	1	2	3	2	1	5	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.298C>A	p.Gln100Lys	p.Q100K	ENST00000230085	3/4	185	144	41	228	228	0	strelka-varscan-mutect	SNX3,missense_variant,p.Gln100Lys,ENST00000230085,NM_003795.5;SNX3,missense_variant,p.Gln68Lys,ENST00000426155,NM_152827.3;SNX3,missense_variant,p.Gln78Lys,ENST00000349379,NM_001300929.1;SNX3,3_prime_UTR_variant,,ENST00000368979,;	T	ENST00000230085	Transcript	missense_variant	637/1755	298/489	100/162	Q/K	Cag/Aag		1		-1	SNX3	HGNC	HGNC:11174	protein_coding	YES	CCDS5064.1	ENSP00000230085	O60493		UPI00000013A7	NM_003795.5	tolerated(0.37)		3/4		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF145,SMART_domains:SM00312,Superfamily_domains:SSF64268																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	108214583	108214583	G	T	1	0	0	0	0	1	0	0	0	15220	1299	45	2		2	SNX3	6	108214583	Missense_Mutation	SNP	G	C3L-02365_TP	580542	108214583	62591396	143	9619											
KPNA5	0	.	GRCh38	chr6	116692154	116692154	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccactgtacccattccaGaggtatactttaccaaaata	13	12	5	11	0	0	1	0	0	0	1	2	1	2	1	4	1	3	3	4	1	7	8	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.238G>T	p.Glu80Ter	p.E80*	ENST00000368564	3/14	151	126	25	202	201	1	strelka-varscan-mutect	KPNA5,stop_gained,p.Glu80Ter,ENST00000368564,;KPNA5,stop_gained,p.Glu80Ter,ENST00000356348,NM_002269.2;KPNA5,stop_gained,p.Glu77Ter,ENST00000413340,;	T	ENST00000368564	Transcript	stop_gained,splice_region_variant	386/11311	238/1620	80/539	E/*	Gag/Tag		1		1	KPNA5	HGNC	HGNC:6398	protein_coding	YES	CCDS5111.1	ENSP00000357552	O15131		UPI000000DBE6				3/14		Gene3D:1.25.10.10,Pfam_domain:PF01749,PIRSF_domain:PIRSF005673,hmmpanther:PTHR23316,hmmpanther:PTHR23316:SF10,Superfamily_domains:SSF48371																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	34	116692154	116692154	G	T	1	0	0	0	0	0	1	0	0	8313	956	33	2		2	KPNA5	6	116692154	Nonsense_Mutation	SNP	G	C3L-02365_TP	8477571	116692154	54113825	144	9620											
GJA1	0	.	GRCh38	chr6	121447240	121447240	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcacttgaagcagattgaGataaagaagttcaagtacgg	16	9	11	5	1	1	4	1	2	0	3	1	5	1	4	0	1	3	4	0	1	6	5	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.393G>C	p.Glu131Asp	p.E131D	ENST00000282561	2/2	621	519	102	637	637	0	strelka-varscan-mutect	GJA1,missense_variant,p.Glu131Asp,ENST00000282561,NM_000165.4;	C	ENST00000282561	Transcript	missense_variant	550/3037	393/1149	131/382	E/D	gaG/gaC		1		1	GJA1	HGNC	HGNC:4274	protein_coding	YES	CCDS5123.1	ENSP00000282561	P17302		UPI000013DCEC	NM_000165.4	tolerated(0.43)		2/2		hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF33,Pfam_domain:PF00029,Gene3D:2zw3A00																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	121447240	121447240	G	C	1	0	0	0	0	1	0	0	0	6280	933	33	4		4	GJA1	6	121447240	Missense_Mutation	SNP	G	C3L-02365_TP	4755086	121447240	49358739	145	9621											
CTAGE9	0	.	GRCh38	chr6	131710242	131710242	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgattttctttatcattcAgaacttgttctgcgtgtact	7	20	7	7	1	4	2	2	1	2	1	4	2	4	2	0	0	3	2	0	0	3	8	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.776T>G	p.Leu259Arg	p.L259R	ENST00000314099	1/1	206	172	34	264	263	1	strelka-varscan-mutect	CTAGE9,missense_variant,p.Leu259Arg,ENST00000314099,NM_001145659.1;ENPP3,intron_variant,,ENST00000414305,;ENPP3,intron_variant,,ENST00000357639,NM_005021.3;ENPP3,intron_variant,,ENST00000358229,;	C	ENST00000314099	Transcript	missense_variant	776/2334	776/2334	259/777	L/R	cTg/cGg		1		-1	CTAGE9	HGNC	HGNC:37275	protein_coding	YES	CCDS47475.1	ENSP00000395587	A4FU28		UPI0000073347	NM_001145659.1	deleterious(0)		1/1		hmmpanther:PTHR23158:SF39,hmmpanther:PTHR23158																	MODERATE		SNV				1										PASS		.	.												C	3	2	34	131710242	131710242	A	C	1	0	0	0	0	1	0	0	0	3802	188	7	5		5	CTAGE9	6	131710242	Missense_Mutation	SNP	A	C3L-02365_TP	10263002	131710242	39095737	146	9622											
ARFGEF3	0	.	GRCh38	chr6	138311413	138311417	+	Frame_Shift_Del	DEL	TGGAC	TGGAC	-																															cgtgccgcccctaggggaggTggactgtaaagagattggag																								novel		C3L-02365_TP	C3L-02365_NB	TGGAC	TGGAC																c.4105_4109delGACTG	p.Asp1369Ter	p.D1369*	ENST00000251691	25/34	159	118	41	149	149	0	sindel-varindel-pindel	ARFGEF3,frameshift_variant,p.Asp1369Ter,ENST00000251691,NM_020340.4;	-	ENST00000251691	Transcript	frameshift_variant	4269-4273/14877	4103-4107/6534	1368-1369/2177	VD/X	gTGGAC/g		1		1	ARFGEF3	HGNC	HGNC:21213	protein_coding	YES	CCDS5189.2	ENSP00000251691	Q5TH69		UPI000150AF4A	NM_020340.4			25/34																			HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	34	138311413	138311413	TGGAC	-	1	0	1	0	1	0	0	0	0	977	1696	59	0		0	ARFGEF3	6	138311413	Frame_Shift_Del	DEL	TGGAC	C3L-02365_TP	6601171	138311413	32494566	147	9623											
ESR1	0	.	GRCh38	chr6	151944333	151944334	+	Frame_Shift_Ins	INS	-	-	T																															ctaagaagaacagcctggccINSttgtccctgacggccgacca																								novel		C3L-02365_TP	C3L-02365_NB	-	-																c.923dupT	p.Leu308PhefsTer16	p.L308Ffs*16	ENST00000440973	6/10	387	215	172	370	370	0	sindel-varindel-pindel	ESR1,frameshift_variant,p.Leu308PhefsTer16,ENST00000440973,NM_001122742.1;ESR1,frameshift_variant,p.Leu308PhefsTer16,ENST00000206249,NM_001291230.1,NM_001122741.1,NM_001291241.1,NM_000125.3;ESR1,frameshift_variant,p.Leu308PhefsTer16,ENST00000443427,NM_001122740.1;ESR1,frameshift_variant,p.Leu135PhefsTer16,ENST00000427531,NM_001328100.1;ESR1,frameshift_variant,p.Leu308PhefsTer16,ENST00000338799,;ESR1,intron_variant,,ENST00000456483,;ESR1,intron_variant,,ENST00000406599,;ESR1,intron_variant,,ENST00000415488,;ESR1,non_coding_transcript_exon_variant,,ENST00000482101,;	T	ENST00000440973	Transcript	frameshift_variant	1291-1292/6466	921-922/1788	307-308/595	-/X	-/T		1		1	ESR1	HGNC	HGNC:3467	protein_coding	YES	CCDS5234.1	ENSP00000405330	P03372	G4XH65	UPI000004A328	NM_001122742.1			6/10		hmmpanther:PTHR24084,PIRSF_domain:PIRSF500101,PIRSF_domain:PIRSF002527																	HIGH	1	insertion	5	2		1										PASS		.	.												T	7	5	34	151944333	151944333	-	T	1	0	1	1	0	0	0	0	0	5118	668	24	0		0	ESR1	6	151944333	Frame_Shift_Ins	INS	-	C3L-02365_TP	13632920	151944333	18861646	148	9624											
SCAF8	0	.	GRCh38	chr6	154787982	154787982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttagtaataacatcattaGcactttccagaatttatatc	15	16	3	7	0	1	1	1	0	0	1	3	1	2	1	1	0	2	2	1	0	7	9	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.515G>A	p.Ser172Asn	p.S172N	ENST00000417268	5/21	96	88	8	110	110	0	strelka-mutect	SCAF8,missense_variant,p.Ser94Asn,ENST00000367178,NM_001286199.1,NM_014892.4;SCAF8,missense_variant,p.Ser172Asn,ENST00000417268,NM_001286188.1,NM_001286194.1;SCAF8,missense_variant,p.Ser160Asn,ENST00000367186,NM_001286189.1;SCAF8,non_coding_transcript_exon_variant,,ENST00000461219,;SCAF8,non_coding_transcript_exon_variant,,ENST00000464628,;	A	ENST00000417268	Transcript	missense_variant	560/4944	515/4050	172/1349	S/N	aGc/aAc		1		1	SCAF8	HGNC	HGNC:20959	protein_coding	YES	CCDS75541.1	ENSP00000413098		A0A0A0MT33	UPI0003BD245C	NM_001286188.1,NM_001286194.1	tolerated(0.43)		5/21		Gene3D:1.25.40.90,Pfam_domain:PF04818,PROSITE_profiles:PS51391,SMART_domains:SM00582,Superfamily_domains:SSF48464																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	34	154787982	154787982	G	A	1	0	0	0	0	1	0	0	0	14135	971	34	3		3	SCAF8	6	154787982	Missense_Mutation	SNP	G	C3L-02365_TP	2843649	154787982	16017997	149	9625											
FNDC1	0	.	GRCh38	chr6	159266149	159266149	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacacggactgccatggaCggcaatatgtgaagcgcacg	11	6	13	11	4	0	1	0	1	0	0	0	3	0	3	1	3	3	3	1	3	4	2	rs180849332		C3L-02365_TP	C3L-02365_NB	C	C																c.5350C>A	p.=	p.R1784R	ENST00000297267	21/23	226	147	79	263	263	0	strelka-varscan-mutect	FNDC1,synonymous_variant,p.=,ENST00000297267,NM_032532.2;FNDC1,synonymous_variant,p.=,ENST00000329629,;	A	ENST00000297267	Transcript	synonymous_variant	5550/6552	5350/5685	1784/1894	R	Cgg/Agg	rs180849332	1		1	FNDC1	HGNC	HGNC:21184	protein_coding	YES	CCDS47512.1	ENSP00000297267	Q4ZHG4		UPI0000579B80	NM_032532.2			21/23		hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF8																	LOW	1	SNV	1			1										PASS		rs180849332	.												A	2	1	34	159266149	159266149	C	A	1	0	0	0	0	0	0	0	1	5824	527	19	1		1	FNDC1	6	159266149	Silent	SNP	C	C3L-02365_TP	4478167	159266149	11539830	150	9626											
DLL1	0	.	GRCh38	chr6	170285289	170285289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttacaagggctggggtCacactcgtcaatccccagct	8	10	10	13	1	3	0	2	0	1	0	5	0	4	0	2	3	2	3	2	3	3	2	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.997G>T	p.Asp333Tyr	p.D333Y	ENST00000366756	7/11	330	308	22	331	330	1	strelka-varscan-mutect	DLL1,missense_variant,p.Asp333Tyr,ENST00000366756,NM_005618.3;DLL1,downstream_gene_variant,,ENST00000630500,;	A	ENST00000366756	Transcript	missense_variant	1331/3174	997/2172	333/723	D/Y	Gac/Tac		1		-1	DLL1	HGNC	HGNC:2908	protein_coding	YES	CCDS5313.1	ENSP00000355718	O00548		UPI000004C656	NM_005618.3	deleterious(0)		7/11		Gene3D:2.10.25.10,PD936484,Pfam_domain:PF00008,Prints_domain:PR00010,PROSITE_profiles:PS50026,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF283,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	170285289	170285289	C	A	1	0	0	0	0	1	0	0	0	4373	826	29	2		2	DLL1	6	170285289	Missense_Mutation	SNP	C	C3L-02365_TP	11019140	170285289	520690	151	9627											
RADIL	0	.	GRCh38	chr7	4801933	4801933	+	Missense_Mutation	SNP	C	C	A																															cgggctgctgggccagggtcCctgggagccagggggcagct																								novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2562G>T	p.Arg854Ser	p.R854S	ENST00000399583	12/15	109	65	44	54	54	0	strelka-varscan-mutect	RADIL,missense_variant,p.Arg854Ser,ENST00000399583,NM_018059.4;RADIL,3_prime_UTR_variant,,ENST00000445392,;RADIL,non_coding_transcript_exon_variant,,ENST00000473130,;RADIL,non_coding_transcript_exon_variant,,ENST00000472999,;RADIL,downstream_gene_variant,,ENST00000469399,;	A	ENST00000399583	Transcript	missense_variant	2750/3689	2562/3228	854/1075	R/S	agG/agT		1		-1	RADIL	HGNC	HGNC:22226	protein_coding	YES	CCDS43544.1	ENSP00000382492	Q96JH8		UPI0000E0A787	NM_018059.4	tolerated(0.52)		12/15		hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	34	4801933	4801933	C	A	1	0	0	0	0	1	0	0	0	13158	622	22	2		2	RADIL	7	4801933	Missense_Mutation	SNP	C	C3L-02365_TP		4801933	154544040	152	9628	219	2									
RADIL	0	.	GRCh38	chr7	4801934	4801934	+	Missense_Mutation	SNP	C	C	T																															gggctgctgggccagggtccCtgggagccagggggcagctc																								novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2561G>A	p.Arg854Lys	p.R854K	ENST00000399583	12/15	108	66	42	53	53	0	strelka-varscan-mutect	RADIL,missense_variant,p.Arg854Lys,ENST00000399583,NM_018059.4;RADIL,3_prime_UTR_variant,,ENST00000445392,;RADIL,non_coding_transcript_exon_variant,,ENST00000473130,;RADIL,non_coding_transcript_exon_variant,,ENST00000472999,;RADIL,downstream_gene_variant,,ENST00000469399,;	T	ENST00000399583	Transcript	missense_variant	2749/3689	2561/3228	854/1075	R/K	aGg/aAg		1		-1	RADIL	HGNC	HGNC:22226	protein_coding	YES	CCDS43544.1	ENSP00000382492	Q96JH8		UPI0000E0A787	NM_018059.4	tolerated(0.68)		12/15		hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	34	4801934	4801934	C	T	1	0	0	0	0	1	0	0	0	13158	681	24	3		3	RADIL	7	4801934	Missense_Mutation	SNP	C	C3L-02365_TP	1	4801934	154544039	153	9629	219	2									
ZNF853	0	.	GRCh38	chr7	6622668	6622668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctcggcgctcgtgcagcaCcagcgcacgcacaccgggga	8	3	14	16	6	0	0	0	0	0	0	2	1	0	1	2	3	4	6	2	3	0	0			C3L-02365_TP	C3L-02365_NB	C	C																c.1677C>A	p.His559Gln	p.H559Q	ENST00000457543	3/3	314	275	39	155	155	0	strelka-varscan-mutect	ZNF853,missense_variant,p.His559Gln,ENST00000457543,NM_017560.1;	A	ENST00000457543	Transcript	missense_variant	2235/3857	1677/1980	559/659	H/Q	caC/caA	COSM1451874,COSM1451875	1		1	ZNF853	HGNC	HGNC:21767	protein_coding	YES	CCDS59048.1	ENSP00000455585	P0CG23		UPI00018E24EF	NM_017560.1	deleterious_low_confidence(0)		3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24409,SMART_domains:SM00355,Superfamily_domains:SSF57667											1,1						MODERATE	1	SNV	3		1,1	1										PASS		.	.												A	3	1	34	6622668	6622668	C	A	1	0	0	0	0	1	0	0	0	18784	506	18	2		2	ZNF853	7	6622668	Missense_Mutation	SNP	C	C3L-02365_TP	1820734	6622668	152723305	154	9630											
PHF14	0	.	GRCh38	chr7	10990711	10990711	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttaatattaggactcgctGattcttgagaagagtcaaaa	14	14	8	5	1	2	3	1	2	1	2	3	5	2	4	0	1	0	1	0	1	6	6	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.909G>A	p.=	p.L303L	ENST00000403050	4/17	196	180	16	156	156	0	strelka-varscan-mutect	PHF14,synonymous_variant,p.=,ENST00000403050,NM_014660.3;PHF14,synonymous_variant,p.=,ENST00000634607,;PHF14,non_coding_transcript_exon_variant,,ENST00000476009,;PHF14,missense_variant,p.Asp41Asn,ENST00000423760,;PHF14,missense_variant,p.Asp41Asn,ENST00000521747,;PHF14,non_coding_transcript_exon_variant,,ENST00000490957,;	A	ENST00000403050	Transcript	synonymous_variant	1361/4276	909/2667	303/888	L	ctG/ctA		1		1	PHF14	HGNC	HGNC:22203	protein_coding	YES	CCDS47542.1	ENSP00000385795	O94880		UPI000020EB41	NM_014660.3			4/17		hmmpanther:PTHR13793																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	10990711	10990711	G	A	1	0	0	0	0	0	0	0	1	11914	1277	45	3		3	PHF14	7	10990711	Silent	SNP	G	C3L-02365_TP	4368043	10990711	148355262	155	9631											
HOXA10	0	.	GRCh38	chr7	27173535	27173535	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcatcggccgagccggAggctagcgcgggcgggagat	6	3	20	12	7	0	1	0	0	0	1	1	4	0	2	3	6	2	2	3	6	1	1	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.772T>A	p.Ser258Thr	p.S258T	ENST00000283921	1/2	173	70	103	154	154	0	strelka-varscan-mutect	HOXA10,missense_variant,p.Ser258Thr,ENST00000283921,NM_018951.3;HOXA10,missense_variant,p.Leu136His,ENST00000613671,;HOXA10,intron_variant,,ENST00000396344,;HOXA10-HOXA9,intron_variant,,ENST00000470747,;HOXA9,upstream_gene_variant,,ENST00000384852,;HOXA10-AS,downstream_gene_variant,,ENST00000519935,;HOXA10-AS,downstream_gene_variant,,ENST00000523790,;HOXA10-AS,downstream_gene_variant,,ENST00000519694,;HOXA9,intron_variant,,ENST00000465941,;HOXA9,upstream_gene_variant,,ENST00000497089,;HOXA10,upstream_gene_variant,,ENST00000521421,;HOXA10,upstream_gene_variant,,ENST00000524368,;HOXA10,upstream_gene_variant,,ENST00000519593,;HOXA9,upstream_gene_variant,,ENST00000487384,;HOXA9,upstream_gene_variant,,ENST00000489695,;	T	ENST00000283921	Transcript	missense_variant	772/2541	772/1233	258/410	S/T	Tcc/Acc		1		-1	HOXA10	HGNC	HGNC:5100	protein_coding	YES	CCDS5410.2	ENSP00000283921	P31260		UPI0000EE42DA	NM_018951.3	tolerated(0.19)		1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF52																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	27173535	27173535	A	T	1	0	0	0	0	1	0	0	0	7183	304	11	4		4	HOXA10	7	27173535	Missense_Mutation	SNP	A	C3L-02365_TP	16182824	27173535	132172438	156	9632											
CAMK2B	0	.	GRCh38	chr7	44284156	44284156	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgacagcttcttggtgttGatgatcttggctgcatactc	6	15	11	9	0	2	3	0	3	2	0	3	3	2	3	0	2	3	5	0	2	1	5	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.135C>G	p.Ile45Met	p.I45M	ENST00000395749	2/24	799	745	54	279	279	0	strelka-varscan-mutect	CAMK2B,missense_variant,p.Ile45Met,ENST00000395749,NM_001220.4;CAMK2B,missense_variant,p.Ile45Met,ENST00000457475,NM_172079.2;CAMK2B,missense_variant,p.Ile45Met,ENST00000350811,NM_001293170.1;CAMK2B,missense_variant,p.Ile45Met,ENST00000440254,NM_172078.2;CAMK2B,missense_variant,p.Ile45Met,ENST00000358707,NM_172081.2;CAMK2B,missense_variant,p.Ile45Met,ENST00000258682,NM_172080.2;CAMK2B,missense_variant,p.Ile45Met,ENST00000353625,NM_172083.2;CAMK2B,missense_variant,p.Ile45Met,ENST00000347193,NM_172082.2;CAMK2B,missense_variant,p.Ile45Met,ENST00000395747,;CAMK2B,missense_variant,p.Ile45Met,ENST00000346990,NM_172084.2;CAMK2B,missense_variant,p.Ile45Met,ENST00000421607,;CAMK2B,missense_variant,p.Ile61Met,ENST00000415369,;CAMK2B,missense_variant,p.Ile45Met,ENST00000424197,;CAMK2B,non_coding_transcript_exon_variant,,ENST00000497584,;CAMK2B,non_coding_transcript_exon_variant,,ENST00000495819,;CAMK2B,non_coding_transcript_exon_variant,,ENST00000470984,;CAMK2B,non_coding_transcript_exon_variant,,ENST00000427209,;CAMK2B,missense_variant,p.Ile45Met,ENST00000523845,;CAMK2B,missense_variant,p.Ile45Met,ENST00000353185,;	C	ENST00000395749	Transcript	missense_variant	212/4447	135/2001	45/666	I/M	atC/atG		1		-1	CAMK2B	HGNC	HGNC:1461	protein_coding	YES	CCDS5483.1	ENSP00000379098	Q13554	A4D2J9	UPI0000164A3E	NM_001220.4	deleterious_low_confidence(0.01)		2/24		PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	44284156	44284156	G	C	1	0	0	0	0	1	0	0	0	2291	1280	45	4		4	CAMK2B	7	44284156	Missense_Mutation	SNP	G	C3L-02365_TP	17110621	44284156	115061817	157	9633											
ZNF716	0	.	GRCh38	chr7	57450325	57450325	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccccctggaagccgagaaAtggtgagtgctgggtctgtc	8	8	15	10	1	1	2	0	1	1	1	2	5	1	3	3	3	2	1	3	3	2	0	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.37A>T	p.Met13Leu	p.M13L	ENST00000420713	1/4	378	356	22	324	324	0	varscan-mutect	ZNF716,missense_variant,p.Met13Leu,ENST00000420713,NM_001159279.1;	T	ENST00000420713	Transcript	missense_variant,splice_region_variant	149/5197	37/1488	13/495	M/L	Atg/Ttg		1		1	ZNF716	HGNC	HGNC:32458	protein_coding	YES	CCDS55112.1	ENSP00000394248	A6NP11		UPI00004192FD	NM_001159279.1	deleterious(0.04)		1/4		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100																	MODERATE	1	SNV	4			1										PASS		.	.												T	3	4	34	57450325	57450325	A	T	1	0	0	0	0	1	0	0	0	18694	115	4	4		4	ZNF716	7	57450325	Missense_Mutation	SNP	A	C3L-02365_TP	13166169	57450325	101895648	158	9634											
ZNF735	0	.	GRCh38	chr7	64219619	64219619	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacatttgaaatgtaaaaaaTatggcaaatcattttgcatg	18	13	6	4	0	1	1	1	1	0	0	1	1	1	1	0	1	2	3	0	1	7	5	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.568T>C	p.Tyr190His	p.Y190H	ENST00000429565	4/4	262	115	147	239	239	0	strelka-varscan-mutect	ZNF735,missense_variant,p.Tyr190His,ENST00000429565,NM_001159524.1;	C	ENST00000429565	Transcript	missense_variant	681/1570	568/1239	190/412	Y/H	Tat/Cat		1		1	ZNF735	HGNC	HGNC:32466	protein_coding	YES	CCDS78236.1	ENSP00000485547	P0CB33		UPI0001662441	NM_001159524.1	deleterious(0.02)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF103,Low_complexity_(Seg):seg,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	34	64219619	64219619	T	C	1	0	0	0	0	1	0	0	0	18706	1406	49	5		5	ZNF735	7	64219619	Missense_Mutation	SNP	T	C3L-02365_TP	6769294	64219619	95126354	159	9635											
CCDC146	0	.	GRCh38	chr7	77260014	77260014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatcccctacagagaaaTggaaaagaaaaaaattgtct	18	9	8	6	0	1	2	0	0	1	2	2	4	2	3	2	1	1	1	2	1	8	3	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.764T>C	p.Met255Thr	p.M255T	ENST00000285871	8/19	165	143	22	92	92	0	strelka-varscan-mutect	CCDC146,missense_variant,p.Met255Thr,ENST00000285871,NM_020879.2;AC073635.5,upstream_gene_variant,,ENST00000476561,;CCDC146,non_coding_transcript_exon_variant,,ENST00000415740,;CCDC146,downstream_gene_variant,,ENST00000461882,;	C	ENST00000285871	Transcript	missense_variant	891/3333	764/2868	255/955	M/T	aTg/aCg		1		1	CCDC146	HGNC	HGNC:29296	protein_coding	YES	CCDS34671.1	ENSP00000285871	Q8IYE0		UPI000020F44F	NM_020879.2	tolerated(0.37)		8/19		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF27																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	77260014	77260014	T	C	1	0	0	0	0	1	0	0	0	2467	1478	51	5		5	CCDC146	7	77260014	Missense_Mutation	SNP	T	C3L-02365_TP	13040395	77260014	82085959	160	9636											
PTPN12	0	.	GRCh38	chr7	77618506	77618506	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaacactgaaaacatggtCagctccatagagcctgaaaa	17	8	7	9	0	1	3	1	2	0	1	2	3	2	3	2	1	4	1	2	1	6	2	rs770057677		C3L-02365_TP	C3L-02365_NB	C	C																c.966C>T	p.=	p.V322V	ENST00000248594	12/18	310	274	36	221	220	1	strelka-varscan-mutect	PTPN12,synonymous_variant,p.=,ENST00000248594,NM_002835.3;PTPN12,synonymous_variant,p.=,ENST00000435495,NM_001131009.1;PTPN12,synonymous_variant,p.=,ENST00000415482,NM_001131008.1;	T	ENST00000248594	Transcript	synonymous_variant	1238/3406	966/2343	322/780	V	gtC/gtT	rs770057677	1		1	PTPN12	HGNC	HGNC:9645	protein_coding	YES	CCDS5592.1	ENSP00000248594	Q05209		UPI000013CC4C	NM_002835.3			12/18		PIRSF_domain:PIRSF000932																	LOW	1	SNV	1			1										PASS		rs770057677	.												T	2	4	34	77618506	77618506	C	T	1	0	0	0	0	0	0	0	1	12934	813	29	3		3	PTPN12	7	77618506	Silent	SNP	C	C3L-02365_TP	358492	77618506	81727467	161	9637											
ABCB1	0	.	GRCh38	chr7	87515353	87515353	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccaggctcagtccctGaagcactgggatgtccggtc	7	8	11	15	1	1	1	1	1	0	0	5	2	4	2	4	3	1	2	4	3	1	0	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.3160C>A	p.Gln1054Lys	p.Q1054K	ENST00000622132	25/28	517	259	258	308	308	0	strelka-varscan-mutect	ABCB1,missense_variant,p.Gln1054Lys,ENST00000622132,;ABCB1,missense_variant,p.Gln1054Lys,ENST00000265724,NM_000927.4;ABCB1,missense_variant,p.Gln990Lys,ENST00000543898,;ABCB1,non_coding_transcript_exon_variant,,ENST00000488737,;ABCB1,non_coding_transcript_exon_variant,,ENST00000496821,;ABCB1,non_coding_transcript_exon_variant,,ENST00000475929,;ABCB1,downstream_gene_variant,,ENST00000483831,;	T	ENST00000622132	Transcript	missense_variant	3485/4778	3160/3843	1054/1280	Q/K	Cag/Aag		1		-1	ABCB1	HGNC	HGNC:40	protein_coding	YES	CCDS5608.1	ENSP00000478255	P08183	A4D1D2	UPI000013D66C		tolerated(0.33)		25/28		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF241,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	87515353	87515353	G	T	1	0	0	0	0	1	0	0	0	44	1299	45	2		2	ABCB1	7	87515353	Missense_Mutation	SNP	G	C3L-02365_TP	9896847	87515353	71830620	162	9638											
AKAP9	0	.	GRCh38	chr7	92002883	92002883	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaagcaagagaaagaacAagtttcattgagatgtagag	18	10	10	3	0	1	4	1	1	0	4	1	6	1	4	0	0	2	3	0	0	7	5	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.2966A>C	p.Gln989Pro	p.Q989P	ENST00000356239	8/50	210	95	115	174	174	0	strelka-varscan-mutect	AKAP9,missense_variant,p.Gln989Pro,ENST00000356239,NM_005751.4,NM_147185.2;AKAP9,missense_variant,p.Gln1000Pro,ENST00000359028,;AKAP9,missense_variant,p.Gln989Pro,ENST00000358100,;AKAP9,missense_variant,p.Gln997Pro,ENST00000619023,;AKAP9,non_coding_transcript_exon_variant,,ENST00000493453,;	C	ENST00000356239	Transcript	missense_variant	3199/12471	2966/11724	989/3907	Q/P	cAa/cCa		1		1	AKAP9	HGNC	HGNC:379	protein_coding	YES	CCDS5622.1	ENSP00000348573	Q99996		UPI000002A38D	NM_005751.4,NM_147185.2	deleterious(0)		8/50		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	92002883	92002883	A	C	1	0	0	0	0	1	0	0	0	543	130	5	5		5	AKAP9	7	92002883	Missense_Mutation	SNP	A	C3L-02365_TP	4487530	92002883	67343090	163	9639											
COL1A2	0	.	GRCh38	chr7	94409607	94409607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactggtgccaagggtgctgCtgtgagtatacctgcgtagc	7	11	14	9	1	0	1	0	1	0	0	0	1	0	1	2	2	7	4	2	2	5	4	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.935C>A	p.Ala312Asp	p.A312D	ENST00000297268	18/52	947	831	116	604	601	3	strelka-varscan-mutect	COL1A2,missense_variant,p.Ala312Asp,ENST00000297268,NM_000089.3;COL1A2,missense_variant,p.Ala310Asp,ENST00000620463,;COL1A2,upstream_gene_variant,,ENST00000473573,;COL1A2,upstream_gene_variant,,ENST00000488298,;	A	ENST00000297268	Transcript	missense_variant,splice_region_variant	1406/5411	935/4101	312/1366	A/D	gCt/gAt		1		1	COL1A2	HGNC	HGNC:2198	protein_coding	YES	CCDS34682.1	ENSP00000297268	P08123	A0A0S2Z3H5	UPI00003B0CFC	NM_000089.3	tolerated(0.34)		18/52		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF568,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	94409607	94409607	C	A	1	0	0	0	0	1	0	0	0	3466	811	28	2		2	COL1A2	7	94409607	Missense_Mutation	SNP	C	C3L-02365_TP	2406724	94409607	64936366	164	9640											
LMTK2	0	.	GRCh38	chr7	98194444	98194444	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctcagcaacgaggacGgaaggcacctgcggagtctg	10	6	13	12	3	3	0	2	0	1	0	4	4	4	3	2	4	3	2	2	4	2	0	rs200968988		C3L-02365_TP	C3L-02365_NB	G	G																c.3979G>T	p.Gly1327Ter	p.G1327*	ENST00000297293	11/14	609	525	84	364	364	0	strelka-varscan-mutect	LMTK2,stop_gained,p.Gly1327Ter,ENST00000297293,NM_014916.3;	T	ENST00000297293	Transcript	stop_gained	4272/8946	3979/4512	1327/1503	G/*	Gga/Tga	rs200968988,COSM4698279,COSM4698280	1		1	LMTK2	HGNC	HGNC:17880	protein_coding	YES	CCDS5654.1	ENSP00000297293	Q8IWU2		UPI000014F277	NM_014916.3			11/14													0,1,1						HIGH	1	SNV	1		0,1,1	1										PASS		rs200968988	.												T	4	4	34	98194444	98194444	G	T	1	0	0	0	0	0	1	0	0	8786	1117	39	1		1	LMTK2	7	98194444	Nonsense_Mutation	SNP	G	C3L-02365_TP	3784837	98194444	61151529	165	9641											
TRIP6	0	.	GRCh38	chr7	100873200	100873200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgctgctctcctctgaggGcgagtgtcagggctgctacc	4	10	14	13	1	3	1	1	1	2	0	4	2	3	1	2	2	4	5	2	2	1	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1328G>T	p.Gly443Val	p.G443V	ENST00000200457	9/9	251	219	32	120	120	0	strelka-varscan-mutect	TRIP6,missense_variant,p.Gly443Val,ENST00000200457,NM_003302.2;TRIP6,3_prime_UTR_variant,,ENST00000619988,;SRRT,upstream_gene_variant,,ENST00000614484,NM_001128852.1;SRRT,upstream_gene_variant,,ENST00000618262,NM_001128853.1;SRRT,upstream_gene_variant,,ENST00000611405,NM_015908.5;SRRT,upstream_gene_variant,,ENST00000618411,NM_001128854.1;TRIP6,downstream_gene_variant,,ENST00000629911,;TRIP6,downstream_gene_variant,,ENST00000429658,;SRRT,upstream_gene_variant,,ENST00000431645,;TRIP6,non_coding_transcript_exon_variant,,ENST00000476870,;TRIP6,downstream_gene_variant,,ENST00000417475,;TRIP6,downstream_gene_variant,,ENST00000437505,;TRIP6,downstream_gene_variant,,ENST00000463125,;TRIP6,downstream_gene_variant,,ENST00000488670,;SRRT,upstream_gene_variant,,ENST00000620394,;SRRT,upstream_gene_variant,,ENST00000614370,;	T	ENST00000200457	Transcript	missense_variant	1688/1942	1328/1431	443/476	G/V	gGc/gTc		1		1	TRIP6	HGNC	HGNC:12311	protein_coding	YES	CCDS5708.1	ENSP00000200457	Q15654		UPI00000012CD	NM_003302.2	deleterious(0)		9/9		Low_complexity_(Seg):seg,PROSITE_profiles:PS50023,hmmpanther:PTHR24212:SF7,hmmpanther:PTHR24212,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	100873200	100873200	G	T	1	0	0	0	0	1	0	0	0	17056	1203	42	2		2	TRIP6	7	100873200	Missense_Mutation	SNP	G	C3L-02365_TP	2678756	100873200	58472773	166	9642											
RELN	0	.	GRCh38	chr7	103753198	103753198	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctagatgtgggtgcacAgtgacatctgttggagctga	9	12	13	7	0	1	3	0	2	1	1	1	4	1	4	1	2	3	3	1	2	2	3	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.561T>C	p.=	p.T187T	ENST00000428762	5/65	497	444	53	341	341	0	strelka-varscan-mutect	RELN,synonymous_variant,p.=,ENST00000424685,;RELN,synonymous_variant,p.=,ENST00000428762,NM_005045.3;RELN,synonymous_variant,p.=,ENST00000343529,NM_173054.2;	G	ENST00000428762	Transcript	synonymous_variant	721/11571	561/10383	187/3460	T	acT/acC		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3			5/65		PROSITE_profiles:PS51019,hmmpanther:PTHR11841																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	34	103753198	103753198	A	G	1	0	0	0	0	0	0	0	1	13390	175	7	5		5	RELN	7	103753198	Silent	SNP	A	C3L-02365_TP	2879998	103753198	55592775	167	9643											
KMT2E	0	.	GRCh38	chr7	105107366	105107366	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaatttgtaaacagggatAtgacagatcttcaaccatgt	14	14	7	6	0	2	2	1	1	1	1	2	3	2	3	1	1	2	1	1	1	5	6	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.2909A>T	p.Tyr970Phe	p.Y970F	ENST00000311117	22/27	81	71	10	57	56	1	strelka-varscan-mutect	KMT2E,missense_variant,p.Tyr970Phe,ENST00000311117,NM_182931.2;KMT2E,missense_variant,p.Tyr970Phe,ENST00000257745,NM_018682.3;KMT2E,downstream_gene_variant,,ENST00000479838,;KMT2E,upstream_gene_variant,,ENST00000473063,;CTB-152G17.6,upstream_gene_variant,,ENST00000607968,;SRPK2,downstream_gene_variant,,ENST00000493638,;KMT2E,3_prime_UTR_variant,,ENST00000334884,;KMT2E,upstream_gene_variant,,ENST00000478079,;	T	ENST00000311117	Transcript	missense_variant	3454/6874	2909/5577	970/1858	Y/F	tAt/tTt		1		1	KMT2E	HGNC	HGNC:18541	protein_coding	YES	CCDS34723.1	ENSP00000312379	Q8IZD2		UPI0000074133	NM_182931.2	tolerated_low_confidence(0.16)		22/27																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	105107366	105107366	A	T	1	0	0	0	0	1	0	0	0	8299	463	16	4		4	KMT2E	7	105107366	Missense_Mutation	SNP	A	C3L-02365_TP	1354168	105107366	54238607	168	9644											
CPED1	0	.	GRCh38	chr7	120989731	120989731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagactctgaccctccgagGgtcgaggaagctcacagccg	9	5	12	15	3	2	2	1	1	1	1	4	5	3	3	4	2	2	1	4	2	1	0	rs771443560		C3L-02365_TP	C3L-02365_NB	G	G																c.110G>T	p.Gly37Val	p.G37V	ENST00000310396	2/23	719	615	104	482	481	1	strelka-varscan-mutect	CPED1,missense_variant,p.Gly37Val,ENST00000310396,NM_024913.4;CPED1,missense_variant,p.Gly37Val,ENST00000450913,NM_001105533.1;CPED1,missense_variant,p.Gly37Val,ENST00000428526,;CPED1,missense_variant,p.Gly37Val,ENST00000340646,;CPED1,non_coding_transcript_exon_variant,,ENST00000495036,;CPED1,upstream_gene_variant,,ENST00000520801,;	T	ENST00000310396	Transcript	missense_variant	577/5340	110/3081	37/1026	G/V	gGg/gTg	rs771443560,COSM4521397,COSM4521398,COSM4521399	1		1	CPED1	HGNC	HGNC:26159	protein_coding	YES	CCDS34739.1	ENSP00000309772	A4D0V7		UPI000013C813	NM_024913.4	tolerated(0.06)		2/23		hmmpanther:PTHR14776											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs771443560	.												T	3	4	34	120989731	120989731	G	T	1	0	0	0	0	1	0	0	0	3598	1232	43	2		2	CPED1	7	120989731	Missense_Mutation	SNP	G	C3L-02365_TP	15882365	120989731	38356242	169	9645											
CADPS2	0	.	GRCh38	chr7	122615241	122615241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccttccacttccattgtaCagtaaacaattcgattggga	11	13	6	11	1	0	0	0	0	0	0	4	2	3	1	3	1	2	2	3	1	4	7	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1163G>C	p.Cys388Ser	p.C388S	ENST00000449022	6/30	169	149	20	141	141	0	strelka-varscan-mutect	CADPS2,missense_variant,p.Cys388Ser,ENST00000615869,;CADPS2,missense_variant,p.Cys282Ser,ENST00000313070,NM_001167940.1;CADPS2,missense_variant,p.Cys388Ser,ENST00000334010,;CADPS2,missense_variant,p.Cys388Ser,ENST00000412584,NM_001009571.3;CADPS2,missense_variant,p.Cys388Ser,ENST00000449022,NM_017954.10;CADPS2,missense_variant,p.Cys37Ser,ENST00000397721,;	G	ENST00000449022	Transcript	missense_variant	1183/4073	1163/3891	388/1296	C/S	tGt/tCt		1		-1	CADPS2	HGNC	HGNC:16018	protein_coding	YES	CCDS55158.1	ENSP00000398481	Q86UW7		UPI0000668808	NM_017954.10	deleterious(0.01)		6/30		hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF7,Superfamily_domains:SSF49562																	MODERATE	1	SNV	5			1										PASS		rs1274435030	.												G	3	3	34	122615241	122615241	C	G	1	0	0	0	0	1	0	0	0	2261	478	17	4		4	CADPS2	7	122615241	Missense_Mutation	SNP	C	C3L-02365_TP	1625510	122615241	36730732	170	9646											
RP11-286H14.4	0	.	GRCh38	chr7	129126925	129126925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgggcttctacggggccttCtactgtgacagggagatcag	7	10	15	9	1	3	2	1	1	2	1	3	3	3	2	1	4	2	1	1	4	2	4	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.408C>G	p.Phe136Leu	p.F136L	ENST00000467614	1/2	849	431	418	494	494	0	strelka-varscan-mutect	RP11-286H14.4,missense_variant,p.Phe136Leu,ENST00000467614,;	G	ENST00000467614	Transcript	missense_variant	408/1263	408/1218	136/405	F/L	ttC/ttG		1		1	RP11-286H14.4	Clone_based_vega_gene		protein_coding	YES		ENSP00000490163					deleterious(0)		1/2		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF314,Superfamily_domains:SSF56112																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	34	129126925	129126925	C	G	1	0	0	0	0	1	0	0	0	13725	912	32	4		4	RP11-286H14.4	7	129126925	Missense_Mutation	SNP	C	C3L-02365_TP	6511684	129126925	30219048	171	9647											
EZH2	0	.	GRCh38	chr7	148807663	148807663	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtcaagggatttccatttCtctttcgatgccgacatact	9	15	7	10	2	2	0	1	0	1	0	5	3	3	1	2	1	2	0	2	1	2	4	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2239G>C	p.Glu747Gln	p.E747Q	ENST00000320356	20/20	296	252	44	195	195	0	strelka-varscan-mutect	EZH2,missense_variant,p.Glu747Gln,ENST00000320356,NM_004456.4;EZH2,missense_variant,p.Glu742Gln,ENST00000460911,NM_001203247.1;EZH2,missense_variant,p.Glu691Gln,ENST00000476773,NM_001203249.1;EZH2,missense_variant,p.Glu691Gln,ENST00000478654,;EZH2,missense_variant,p.Glu703Gln,ENST00000350995,NM_152998.2;EZH2,missense_variant,p.Glu733Gln,ENST00000483967,NM_001203248.1;EZH2,3_prime_UTR_variant,,ENST00000492143,;EZH2,downstream_gene_variant,,ENST00000469631,;	G	ENST00000320356	Transcript	missense_variant	2361/2639	2239/2256	747/751	E/Q	Gaa/Caa		1		-1	EZH2	HGNC	HGNC:3527	protein_coding	YES	CCDS5891.1	ENSP00000320147	Q15910	A0A090N8E9	UPI000006D77C	NM_004456.4	deleterious(0.02)		20/20																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	148807663	148807663	C	G	1	0	0	0	0	1	0	0	0	5202	922	32	4		4	EZH2	7	148807663	Missense_Mutation	SNP	C	C3L-02365_TP	19680738	148807663	10538310	172	9648											
ATP6V0E2	0	.	GRCh38	chr7	149873936	149873936	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatgcgcgtgcgcggcccGgcccggctgatcgcttcggg	3	6	18	14	8	0	2	0	1	0	1	2	3	0	2	2	4	2	2	2	4	0	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.18G>T	p.=	p.P6P	ENST00000421974	1/3	122	98	24	89	89	0	strelka-varscan-mutect	ATP6V0E2,synonymous_variant,p.=,ENST00000615196,NM_145230.3;ATP6V0E2,synonymous_variant,p.=,ENST00000456496,;ATP6V0E2,synonymous_variant,p.=,ENST00000421974,NM_001100592.2;ATP6V0E2,synonymous_variant,p.=,ENST00000611515,;ATP6V0E2,upstream_gene_variant,,ENST00000479613,NM_001289990.1;ATP6V0E2,upstream_gene_variant,,ENST00000425642,;ATP6V0E2,upstream_gene_variant,,ENST00000606024,;ATP6V0E2,upstream_gene_variant,,ENST00000464662,;ATP6V0E2-AS1,intron_variant,,ENST00000464939,;ATP6V0E2-AS1,upstream_gene_variant,,ENST00000461019,;ATP6V0E2-AS1,upstream_gene_variant,,ENST00000488315,;ATP6V0E2,upstream_gene_variant,,ENST00000495408,;ATP6V0E2,upstream_gene_variant,,ENST00000490092,;ATP6V0E2,upstream_gene_variant,,ENST00000483478,;ATP6V0E2,upstream_gene_variant,,ENST00000471877,;ATP6V0E2,upstream_gene_variant,,ENST00000464683,;	T	ENST00000421974	Transcript	synonymous_variant	969/2605	18/642	6/213	P	ccG/ccT		1		1	ATP6V0E2	HGNC	HGNC:21723	protein_coding	YES	CCDS47742.1	ENSP00000411672		E9PAS2	UPI00001A844C	NM_001100592.2			1/3																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	34	149873936	149873936	G	T	1	0	0	0	0	0	0	0	1	1329	1103	39	1		1	ATP6V0E2	7	149873936	Silent	SNP	G	C3L-02365_TP	1066273	149873936	9472037	173	9649											
GIMAP6	0	.	GRCh38	chr7	150628448	150628448	+	Frame_Shift_Del	DEL	C	C	-																															cctgttgcactcttcccactCcctgttttccccatgagaat																								novel		C3L-02365_TP	C3L-02365_NB	C	C																c.360delG	p.Ser121ValfsTer25	p.S121Vfs*25	ENST00000618759	3/3	306	182	124	263	263	0	sindel-varindel-pindel	GIMAP6,frameshift_variant,p.Ser121ValfsTer25,ENST00000618759,NM_001244072.1;GIMAP6,frameshift_variant,p.Ser51ValfsTer25,ENST00000328902,NM_024711.5;GIMAP6,intron_variant,,ENST00000493969,NM_001244071.1;	-	ENST00000618759	Transcript	frameshift_variant	840/3910	360/1089	120/362	G/X	ggG/gg		1		-1	GIMAP6	HGNC	HGNC:21918	protein_coding	YES	CCDS75676.1	ENSP00000479580		B4DH95	UPI00017A6DF2	NM_001244072.1			3/3		PROSITE_profiles:PS51720,hmmpanther:PTHR10903:SF51,hmmpanther:PTHR10903,Pfam_domain:PF04548,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	34	150628448	150628448	C	-	1	0	1	0	1	0	0	0	0	6263	842	30	0		0	GIMAP6	7	150628448	Frame_Shift_Del	DEL	C	C3L-02365_TP	754512	150628448	8717525	174	9650											
PTPRN2	0	.	GRCh38	chr7	157604025	157604025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctagcgttgatgtagtCtgagtggctgtggctgttct	4	14	17	6	1	2	2	0	2	2	0	2	2	2	2	0	4	1	6	0	4	2	4	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2395G>T	p.Asp799Tyr	p.D799Y	ENST00000389418	16/23	347	203	144	213	213	0	strelka-varscan-mutect	PTPRN2,missense_variant,p.Asp770Tyr,ENST00000389413,NM_130843.2;PTPRN2,missense_variant,p.Asp761Tyr,ENST00000409483,NM_001308267.1;PTPRN2,missense_variant,p.Asp799Tyr,ENST00000389418,NM_001308268.1,NM_002847.3;PTPRN2,missense_variant,p.Asp782Tyr,ENST00000389416,NM_130842.2;	A	ENST00000389418	Transcript	missense_variant	2405/4706	2395/3048	799/1015	D/Y	Gac/Tac		1		-1	PTPRN2	HGNC	HGNC:9677	protein_coding	YES	CCDS5947.1	ENSP00000374069	Q92932		UPI000002E7C7	NM_001308268.1,NM_002847.3	deleterious(0)		16/23		Gene3D:3.90.190.10,Pfam_domain:PF00102,Prints_domain:PR00700,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF266,SMART_domains:SM00194,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	157604025	157604025	C	A	1	0	0	0	0	1	0	0	0	12962	913	32	2		2	PTPRN2	7	157604025	Missense_Mutation	SNP	C	C3L-02365_TP	6975577	157604025	1741948	175	9651											
RNF122	0	.	GRCh38	chr8	33551381	33551381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcactctgtgcctggttcCgcagtttgctgggagaaaga	7	11	13	10	1	2	2	1	0	1	2	3	3	3	2	2	2	2	5	2	2	1	2	rs760602508		C3L-02365_TP	C3L-02365_NB	C	C																c.191G>T	p.Arg64Leu	p.R64L	ENST00000256257	3/6	255	187	68	410	410	0	strelka-varscan-mutect	RNF122,missense_variant,p.Arg64Leu,ENST00000256257,NM_024787.3;	A	ENST00000256257	Transcript	missense_variant	593/1868	191/468	64/155	R/L	cGg/cTg	rs760602508	1		-1	RNF122	HGNC	HGNC:21147	protein_coding	YES	CCDS6091.1	ENSP00000256257	Q9H9V4		UPI000013CEFB	NM_024787.3	deleterious(0)		3/6		hmmpanther:PTHR22763:SF14,hmmpanther:PTHR22763																	MODERATE	1	SNV	1			1										PASS		rs760602508	.												A	3	1	34	33551381	33551381	C	A	1	0	0	0	0	1	0	0	0	13610	652	23	1		1	RNF122	8	33551381	Missense_Mutation	SNP	C	C3L-02365_TP		33551381	111587255	176	9652											
FGFR1	0	.	GRCh38	chr8	38421814	38421814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttccagaacggtcaacCatgcagagtgatgggagagt	12	8	12	9	1	1	4	1	1	0	3	2	5	2	4	3	2	4	1	3	2	3	2	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1157G>T	p.Trp386Leu	p.W386L	ENST00000425967	9/19	196	139	57	243	242	1	strelka-varscan-mutect	FGFR1,missense_variant,p.Trp355Leu,ENST00000447712,NM_023110.2;FGFR1,missense_variant,p.Trp353Leu,ENST00000397091,NM_015850.3;FGFR1,missense_variant,p.Trp355Leu,ENST00000532791,NM_001174063.1;FGFR1,missense_variant,p.Trp386Leu,ENST00000425967,NM_001174067.1;FGFR1,missense_variant,p.Trp347Leu,ENST00000335922,NM_001174064.1;FGFR1,missense_variant,p.Trp266Leu,ENST00000356207,NM_023105.2,NM_001174066.1;FGFR1,missense_variant,p.Trp264Leu,ENST00000326324,NM_023106.2;FGFR1,missense_variant,p.Trp353Leu,ENST00000397113,NM_001174065.1;FGFR1,missense_variant,p.Trp353Leu,ENST00000397108,;FGFR1,3_prime_UTR_variant,,ENST00000341462,;FGFR1,intron_variant,,ENST00000619564,;FGFR1,intron_variant,,ENST00000397103,;FGFR1,downstream_gene_variant,,ENST00000525001,;FGFR1,downstream_gene_variant,,ENST00000529552,;FGFR1,downstream_gene_variant,,ENST00000526742,;FGFR1,downstream_gene_variant,,ENST00000533668,;RP11-350N15.4,upstream_gene_variant,,ENST00000528407,;FGFR1,downstream_gene_variant,,ENST00000527203,;FGFR1,downstream_gene_variant,,ENST00000530701,;FGFR1,3_prime_UTR_variant,,ENST00000487647,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,non_coding_transcript_exon_variant,,ENST00000466021,;FGFR1,non_coding_transcript_exon_variant,,ENST00000475621,;FGFR1,downstream_gene_variant,,ENST00000470826,;FGFR1,downstream_gene_variant,,ENST00000496296,;FGFR1,upstream_gene_variant,,ENST00000527114,;FGFR1,downstream_gene_variant,,ENST00000484370,;FGFR1,upstream_gene_variant,,ENST00000527745,;FGFR1,downstream_gene_variant,,ENST00000474970,;FGFR1,downstream_gene_variant,,ENST00000532386,;FGFR1,downstream_gene_variant,,ENST00000464163,;FGFR1,upstream_gene_variant,,ENST00000533619,;FGFR1,upstream_gene_variant,,ENST00000524528,;	A	ENST00000425967	Transcript	missense_variant	1480/5375	1157/2562	386/853	W/L	tGg/tTg		1		-1	FGFR1	HGNC	HGNC:3688	protein_coding	YES	CCDS55223.1	ENSP00000393312	P11362		UPI0001CE06A3	NM_001174067.1	deleterious(0)		9/19		Gene3D:2.60.40.10,Pfam_domain:PF07679,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	38421814	38421814	C	A	1	0	0	0	0	1	0	0	0	5727	595	21	2		2	FGFR1	8	38421814	Missense_Mutation	SNP	C	C3L-02365_TP	4870433	38421814	106716822	177	9653											
PXDNL	0	.	GRCh38	chr8	51408289	51408289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaggtaggagggtgccCgccatttagcagccacgcca	10	6	14	11	2	0	1	0	1	0	1	0	3	0	2	4	3	3	2	4	3	3	3	rs753757543		C3L-02365_TP	C3L-02365_NB	C	C																c.3335G>T	p.Arg1112Leu	p.R1112L	ENST00000356297	17/23	321	291	30	195	195	0	strelka-varscan-mutect	PXDNL,missense_variant,p.Arg1112Leu,ENST00000356297,NM_144651.4;PXDNL,missense_variant,p.Arg231Leu,ENST00000522933,;PXDNL,missense_variant,p.Arg378Leu,ENST00000522628,;	A	ENST00000356297	Transcript	missense_variant	3436/4805	3335/4392	1112/1463	R/L	cGg/cTg	rs753757543,COSM2718383,COSM2718384	1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4	deleterious(0)		17/23		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs753757543	.												A	3	1	34	51408289	51408289	C	A	1	0	0	0	0	1	0	0	0	13002	652	23	1		1	PXDNL	8	51408289	Missense_Mutation	SNP	C	C3L-02365_TP	12986475	51408289	93730347	178	9654											
PXDNL	0	.	GRCh38	chr8	51409473	51409473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaacaccggttggagcaGtttggcagaggcctgcgagc	9	7	16	9	2	0	1	0	0	0	1	0	4	0	3	2	5	4	4	2	5	1	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.2151C>A	p.Asn717Lys	p.N717K	ENST00000356297	17/23	327	308	19	146	146	0	strelka-varscan-mutect	PXDNL,missense_variant,p.Asn717Lys,ENST00000356297,NM_144651.4;PXDNL,upstream_gene_variant,,ENST00000522933,;PXDNL,upstream_gene_variant,,ENST00000522628,;	T	ENST00000356297	Transcript	missense_variant	2252/4805	2151/4392	717/1463	N/K	aaC/aaA		1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4	deleterious(0.03)		17/23		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10																	MODERATE	1	SNV	1			1										PASS		rs1427045243	.												T	3	4	34	51409473	51409473	G	T	1	0	0	0	0	1	0	0	0	13002	1020	36	2		2	PXDNL	8	51409473	Missense_Mutation	SNP	G	C3L-02365_TP	1184	51409473	93729163	179	9655											
GGH	0	.	GRCh38	chr8	63024148	63024148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctaatgacagcaacaactCagtaggaaaattctggaaca	17	8	8	8	0	2	1	1	1	1	0	2	3	2	3	0	2	5	3	0	2	7	3			C3L-02365_TP	C3L-02365_NB	C	C																c.538G>A	p.Glu180Lys	p.E180K	ENST00000260118	6/9	324	301	23	258	257	1	strelka-varscan-mutect	GGH,missense_variant,p.Glu180Lys,ENST00000260118,NM_003878.2;RP11-659E9.4,upstream_gene_variant,,ENST00000521556,;GGH,non_coding_transcript_exon_variant,,ENST00000518113,;GGH,non_coding_transcript_exon_variant,,ENST00000518466,;GGH,downstream_gene_variant,,ENST00000523479,;GGH,non_coding_transcript_exon_variant,,ENST00000520609,;GGH,downstream_gene_variant,,ENST00000518966,;	T	ENST00000260118	Transcript	missense_variant	941/1607	538/957	180/318	E/K	Gag/Aag	COSM5630200	1		-1	GGH	HGNC	HGNC:4248	protein_coding	YES	CCDS6177.1	ENSP00000260118	Q92820		UPI000000127C	NM_003878.2	deleterious(0.05)		6/9		Gene3D:3.40.50.880,Pfam_domain:PF07722,PROSITE_profiles:PS51275,hmmpanther:PTHR11315,hmmpanther:PTHR11315:SF2,Superfamily_domains:SSF52317											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	34	63024148	63024148	C	T	1	0	0	0	0	1	0	0	0	6233	835	29	3		3	GGH	8	63024148	Missense_Mutation	SNP	C	C3L-02365_TP	11614675	63024148	82114488	180	9656											
ZFHX4	0	.	GRCh38	chr8	76864373	76864373	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctttccttgccttcaacGgttacctcaagtttgtgcag	6	15	7	13	1	2	0	2	0	0	0	4	0	4	0	4	1	4	3	4	1	3	5	rs762288220		C3L-02365_TP	C3L-02365_NB	G	G																c.10659G>T	p.=	p.T3553T	ENST00000521891	11/11	318	299	19	257	257	0	strelka-varscan-mutect	ZFHX4,synonymous_variant,p.=,ENST00000521891,NM_024721.4;ZFHX4,synonymous_variant,p.=,ENST00000518282,;	T	ENST00000521891	Transcript	synonymous_variant	11107/14019	10659/10851	3553/3616	T	acG/acT	rs762288220	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4			11/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs762288220	.												T	2	4	34	76864373	76864373	G	T	1	0	0	0	0	0	0	0	1	18213	1103	39	1		1	ZFHX4	8	76864373	Silent	SNP	G	C3L-02365_TP	13840225	76864373	68274263	181	9657											
DCAF13	0	.	GRCh38	chr8	103420312	103420312	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttgaggtcccacgagAatatataagagctttaaatg	13	13	8	7	1	0	3	0	1	0	2	2	4	2	3	2	1	1	1	2	1	6	7	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.575A>T	p.Glu192Val	p.E192V	ENST00000297579	2/11	401	372	29	273	273	0	strelka-varscan-mutect	DCAF13,missense_variant,p.Glu192Val,ENST00000297579,NM_015420.6;DCAF13,missense_variant,p.Glu192Val,ENST00000616836,;DCAF13,missense_variant,p.Glu40Val,ENST00000521971,;DCAF13,missense_variant,p.Glu40Val,ENST00000618975,;DCAF13,missense_variant,p.Glu40Val,ENST00000612750,;DCAF13,missense_variant,p.Glu40Val,ENST00000519682,;DCAF13,intron_variant,,ENST00000521999,;DCAF13,non_coding_transcript_exon_variant,,ENST00000518554,;DCAF13,non_coding_transcript_exon_variant,,ENST00000521716,;	T	ENST00000297579	Transcript	missense_variant	852/2642	575/1794	192/597	E/V	gAa/gTa		1		1	DCAF13	HGNC	HGNC:24535	protein_coding	YES	CCDS34934.1	ENSP00000297579		A0A087WT20	UPI0000DBEF2A	NM_015420.6	deleterious(0)		2/11		hmmpanther:PTHR22851,hmmpanther:PTHR22851:SF0,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	103420312	103420312	A	T	1	0	0	0	0	1	0	0	0	4067	246	9	4		4	DCAF13	8	103420312	Missense_Mutation	SNP	A	C3L-02365_TP	26555939	103420312	41718324	182	9658											
RIMS2	0	.	GRCh38	chr8	103885599	103885599	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtaccagtcacgctacCgaagtgatccgaatttggcc	12	8	10	11	3	1	2	1	1	0	1	2	4	2	2	4	1	2	2	4	1	5	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1000C>G	p.Arg334Gly	p.R334G	ENST00000504942	4/24	525	237	288	314	314	0	strelka-varscan-mutect	RIMS2,missense_variant,p.Arg142Gly,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Arg112Gly,ENST00000436393,;RIMS2,missense_variant,p.Arg334Gly,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Arg276Gly,ENST00000626043,;RIMS2,missense_variant,p.Arg142Gly,ENST00000408894,;RIMS2,missense_variant,p.Arg142Gly,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Arg338Gly,ENST00000632716,;RIMS2,missense_variant,p.Arg142Gly,ENST00000515551,;	G	ENST00000504942	Transcript	missense_variant	1139/4228	1000/4050	334/1349	R/G	Cga/Gga		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0)		4/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	34	103885599	103885599	C	G	1	0	0	0	0	1	0	0	0	13543	644	23	4		4	RIMS2	8	103885599	Missense_Mutation	SNP	C	C3L-02365_TP	465287	103885599	41253037	183	9659											
RIMS2	0	.	GRCh38	chr8	103975367	103975367	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagattatcgacatgatggtCgagatcttcaaagctcaaca	14	11	8	8	2	3	3	2	1	1	2	5	5	3	3	0	1	2	1	0	1	4	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2788C>A	p.=	p.R930R	ENST00000504942	16/24	247	231	16	176	174	2	strelka-varscan-mutect	RIMS2,synonymous_variant,p.=,ENST00000507740,NM_014677.4;RIMS2,synonymous_variant,p.=,ENST00000436393,;RIMS2,synonymous_variant,p.=,ENST00000504942,NM_001100117.2;RIMS2,synonymous_variant,p.=,ENST00000626043,;RIMS2,synonymous_variant,p.=,ENST00000408894,;RIMS2,synonymous_variant,p.=,ENST00000262231,NM_001282881.1;RIMS2,synonymous_variant,p.=,ENST00000632716,;RIMS2,synonymous_variant,p.=,ENST00000507677,;	A	ENST00000504942	Transcript	synonymous_variant	2927/4228	2788/4050	930/1349	R	Cga/Aga		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2			16/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15																	LOW	1	SNV	2			1										PASS		rs1198632500	.												A	2	1	34	103975367	103975367	C	A	1	0	0	0	0	0	0	0	1	13543	876	31	1		1	RIMS2	8	103975367	Silent	SNP	C	C3L-02365_TP	89768	103975367	41163269	184	9660											
PKHD1L1	0	.	GRCh38	chr8	109412385	109412385	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaacagacgaccatatGgagatattttattgtttcct	14	13	6	8	1	0	2	0	0	0	2	1	4	1	2	3	1	2	1	3	1	5	6			C3L-02365_TP	C3L-02365_NB	G	G																c.2206G>T	p.Gly736Ter	p.G736*	ENST00000378402	20/78	215	193	22	149	149	0	strelka-varscan-mutect	PKHD1L1,stop_gained,p.Gly736Ter,ENST00000378402,NM_177531.4;	T	ENST00000378402	Transcript	stop_gained	2310/13076	2206/12732	736/4243	G/*	Gga/Tga	COSM3643962	1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4			20/78													1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	34	109412385	109412385	G	T	1	0	0	0	0	0	1	0	0	12068	1349	47	2		2	PKHD1L1	8	109412385	Nonsense_Mutation	SNP	G	C3L-02365_TP	5437018	109412385	35726251	185	9661											
PKHD1L1	0	.	GRCh38	chr8	109465040	109465040	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcccatttagtgaaggcttGactgtctcttctgtgcactt	6	16	8	11	0	2	2	0	2	2	0	4	2	3	2	1	1	1	2	1	1	2	5	rs78508697		C3L-02365_TP	C3L-02365_NB	G	G																c.8208G>C	p.Leu2736Phe	p.L2736F	ENST00000378402	49/78	421	395	26	276	276	0	strelka-varscan-mutect	PKHD1L1,missense_variant,p.Leu2736Phe,ENST00000378402,NM_177531.4;	C	ENST00000378402	Transcript	missense_variant	8312/13076	8208/12732	2736/4243	L/F	ttG/ttC	rs78508697	1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	tolerated(0.13)		49/78		SMART_domains:SM00710																	MODERATE	1	SNV	1			1										PASS		rs78508697	.												C	3	2	34	109465040	109465040	G	C	1	0	0	0	0	1	0	0	0	12068	1281	45	4		4	PKHD1L1	8	109465040	Missense_Mutation	SNP	G	C3L-02365_TP	52655	109465040	35673596	186	9662											
CSMD3	0	.	GRCh38	chr8	112287185	112287185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacttttagttctgaaattGctttcctgtctagagccatg	8	17	8	8	0	2	2	0	1	2	1	3	2	3	2	2	0	3	3	2	0	4	7	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.9210C>A	p.Ser3070Arg	p.S3070R	ENST00000297405	58/71	794	579	215	554	553	1	strelka-varscan-mutect	CSMD3,missense_variant,p.Ser3070Arg,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Ser3030Arg,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Ser2901Arg,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Ser2340Arg,ENST00000339701,;	T	ENST00000297405	Transcript	missense_variant	9455/13212	9210/11124	3070/3707	S/R	agC/agA		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0.04)		58/71		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	112287185	112287185	G	T	1	0	0	0	0	1	0	0	0	3747	1310	46	2		2	CSMD3	8	112287185	Missense_Mutation	SNP	G	C3L-02365_TP	2822145	112287185	32851451	187	9663											
CSMD3	0	.	GRCh38	chr8	112301960	112301960	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgtaggtagttctccacagGaaataactttaaaatgataa	16	12	8	5	0	1	1	0	1	1	0	2	2	1	2	1	2	1	3	1	2	7	7	rs759145168		C3L-02365_TP	C3L-02365_NB	G	G																c.8273C>G	p.Ser2758Cys	p.S2758C	ENST00000297405	53/71	403	370	33	285	285	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Ser2758Cys,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Ser2718Cys,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Ser2589Cys,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Ser2028Cys,ENST00000339701,;	C	ENST00000297405	Transcript	missense_variant	8518/13212	8273/11124	2758/3707	S/C	tCc/tGc	rs759145168	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		53/71		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		rs759145168	.												C	3	2	34	112301960	112301960	G	C	1	0	0	0	0	1	0	0	0	3747	1174	41	4		4	CSMD3	8	112301960	Missense_Mutation	SNP	G	C3L-02365_TP	14775	112301960	32836676	188	9664											
TBC1D31	0	.	GRCh38	chr8	123097339	123097339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcttcatttgtggtgcttGgaagctaggcagctctttag	7	15	11	8	0	3	0	1	0	2	0	3	1	3	1	0	3	3	4	0	3	3	6	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.729G>T	p.Leu243Phe	p.L243F	ENST00000287380	6/22	387	367	20	249	249	0	strelka-varscan-mutect	TBC1D31,missense_variant,p.Leu243Phe,ENST00000287380,NM_145647.3;TBC1D31,missense_variant,p.Leu138Phe,ENST00000521676,;TBC1D31,missense_variant,p.Leu138Phe,ENST00000522420,;TBC1D31,missense_variant,p.Leu243Phe,ENST00000327098,NM_001145088.1;TBC1D31,missense_variant,p.Leu47Phe,ENST00000521914,;TBC1D31,missense_variant,p.Leu233Phe,ENST00000522276,;TBC1D31,intron_variant,,ENST00000519418,;TBC1D31,upstream_gene_variant,,ENST00000518805,;TBC1D31,downstream_gene_variant,,ENST00000518684,;TBC1D31,3_prime_UTR_variant,,ENST00000524307,;TBC1D31,non_coding_transcript_exon_variant,,ENST00000521980,;TBC1D31,non_coding_transcript_exon_variant,,ENST00000518099,;	T	ENST00000287380	Transcript	missense_variant	819/3502	729/3201	243/1066	L/F	ttG/ttT		1		1	TBC1D31	HGNC	HGNC:30888	protein_coding	YES	CCDS6338.1	ENSP00000287380	Q96DN5		UPI000013DEAB	NM_145647.3	deleterious(0)		6/22		PROSITE_profiles:PS50294,hmmpanther:PTHR19853:SF1,hmmpanther:PTHR19853,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	123097339	123097339	G	T	1	0	0	0	0	1	0	0	0	16021	1339	47	2		2	TBC1D31	8	123097339	Missense_Mutation	SNP	G	C3L-02365_TP	10795379	123097339	22041297	189	9665											
ADCY8	0	.	GRCh38	chr8	131039623	131039623	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactgcaggtacgtgtgggaGgtggtgtccttcctgaccac	6	11	14	10	1	0	1	0	1	0	0	2	2	2	2	3	4	3	2	3	4	2	3	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.711C>A	p.=	p.T237T	ENST00000286355	1/18	562	410	152	273	272	1	strelka-varscan-mutect	ADCY8,synonymous_variant,p.=,ENST00000286355,NM_001115.2;ADCY8,synonymous_variant,p.=,ENST00000377928,;	T	ENST00000286355	Transcript	synonymous_variant	2804/5938	711/3756	237/1251	T	acC/acA		1		-1	ADCY8	HGNC	HGNC:239	protein_coding	YES	CCDS6363.1	ENSP00000286355	P40145	A0A0K0K1K3	UPI000012887C	NM_001115.2			1/18		hmmpanther:PTHR11920:SF320,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050,Pfam_domain:PF16214																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	34	131039623	131039623	G	T	1	0	0	0	0	0	0	0	1	344	987	35	2		2	ADCY8	8	131039623	Silent	SNP	G	C3L-02365_TP	7942284	131039623	14099013	190	9666											
ZNF16	0	.	GRCh38	chr8	144931470	144931470	+	Frame_Shift_Del	DEL	C	C	-																															gagctctgactaaatgctttCccacagtcactgcacttata																								novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1317delG	p.Ala441HisfsTer130	p.A441Hfs*130	ENST00000276816	4/4	310	288	22	203	202	1	varindel-pindel	ZNF16,frameshift_variant,p.Ala441HisfsTer130,ENST00000276816,NM_001029976.2;ZNF16,frameshift_variant,p.Ala441HisfsTer130,ENST00000611477,NM_006958.2;ZNF16,frameshift_variant,p.Ala441HisfsTer130,ENST00000394909,;ZNF16,downstream_gene_variant,,ENST00000532351,;ZNF16,downstream_gene_variant,,ENST00000527811,;ZNF16,downstream_gene_variant,,ENST00000532811,;ZNF16,downstream_gene_variant,,ENST00000527512,;	-	ENST00000276816	Transcript	frameshift_variant	1504/2616	1317/2049	439/682	G/X	ggG/gg		1		-1	ZNF16	HGNC	HGNC:12947	protein_coding	YES	CCDS6437.1	ENSP00000276816	P17020		UPI00001E058F	NM_001029976.2			4/4		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF269,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	34	144931470	144931470	C	-	1	0	1	0	1	0	0	0	0	18319	842	30	0		0	ZNF16	8	144931470	Frame_Shift_Del	DEL	C	C3L-02365_TP	13891847	144931470	207166	191	9667											
ERMP1	0	.	GRCh38	chr9	5813036	5813036	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccaaggattttcaggacCtaaaatgaaagatgacaaca	19	7	7	8	0	1	3	1	2	0	1	1	5	1	5	2	2	2	0	2	2	6	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.875-1G>T		p.X292_splice	ENST00000339450		177	126	51	206	205	1	varscan-mutect	ERMP1,splice_acceptor_variant,,ENST00000339450,NM_024896.2;ERMP1,splice_acceptor_variant,,ENST00000214893,;ERMP1,splice_acceptor_variant,,ENST00000462592,;ERMP1,splice_acceptor_variant,,ENST00000489219,;ERMP1,splice_acceptor_variant,,ENST00000487088,;ERMP1,splice_acceptor_variant,,ENST00000475005,;	A	ENST00000339450	Transcript	splice_acceptor_variant	-/5376	875/2715	292/904				1		-1	ERMP1	HGNC	HGNC:23703	protein_coding	YES	CCDS34983.1	ENSP00000340427	Q7Z2K6		UPI00001D7694	NM_024896.2				4/14																		HIGH	1	SNV	1			1										PASS		rs1158386742	.												A	5	1	34	5813036	5813036	C	A	1	0	0	0	0	0	0	1	0	5094	695	24	2		2	ERMP1	9	5813036	Splice_Site	SNP	C	C3L-02365_TP		5813036	132581681	192	9668											
FRMPD1	0	.	GRCh38	chr9	37746217	37746217	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accaccgcacccctgtcgagGaaaagccacatctggccaga	12	4	9	16	2	1	1	0	0	1	1	2	3	1	2	6	2	1	1	6	2	2	0	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.4185G>A	p.=	p.R1395R	ENST00000539465	16/16	219	149	70	220	220	0	strelka-varscan-mutect	FRMPD1,synonymous_variant,p.=,ENST00000539465,;FRMPD1,synonymous_variant,p.=,ENST00000377765,NM_014907.2;RP11-613M10.9,intron_variant,,ENST00000540557,;	A	ENST00000539465	Transcript	synonymous_variant	4778/5465	4185/4737	1395/1578	R	agG/agA		1		1	FRMPD1	HGNC	HGNC:29159	protein_coding	YES	CCDS6612.1	ENSP00000444411	Q5SYB0		UPI000013D2CC				16/16																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	37746217	37746217	G	A	1	0	0	0	0	0	0	0	1	5927	1165	41	3		3	FRMPD1	9	37746217	Silent	SNP	G	C3L-02365_TP	31933181	37746217	100648500	193	9669											
TMC1	0	.	GRCh38	chr9	72821027	72821027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcctgtccacaatgcCtgtcttgtacatgatcgtgt	6	15	7	13	1	2	1	0	1	2	0	5	1	4	1	4	0	2	1	4	0	2	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1949C>A	p.Pro650His	p.P650H	ENST00000297784	20/24	672	562	110	620	620	0	strelka-varscan-mutect	TMC1,missense_variant,p.Pro650His,ENST00000297784,NM_138691.2;TMC1,missense_variant,p.Pro650His,ENST00000340019,;TMC1,non_coding_transcript_exon_variant,,ENST00000486417,;TMC1,non_coding_transcript_exon_variant,,ENST00000469455,;	A	ENST00000297784	Transcript	missense_variant	2489/3201	1949/2283	650/760	P/H	cCt/cAt		1		1	TMC1	HGNC	HGNC:16513	protein_coding	YES	CCDS6643.1	ENSP00000297784	Q8TDI8		UPI0000161FA9	NM_138691.2	deleterious(0)		20/24		hmmpanther:PTHR23302:SF18,hmmpanther:PTHR23302,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	72821027	72821027	C	A	1	0	0	0	0	1	0	0	0	16430	681	24	2		2	TMC1	9	72821027	Missense_Mutation	SNP	C	C3L-02365_TP	35074810	72821027	65573690	194	9670											
ZCCHC6	0	.	GRCh38	chr9	86322383	86322383	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgggtgttaatggtggCagaggttctagctggattct	8	14	14	5	0	2	1	0	0	2	1	2	2	2	2	0	5	2	4	0	5	3	5	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2970G>T	p.=	p.L990L	ENST00000375963	14/27	229	199	30	269	269	0	strelka-varscan-mutect	ZCCHC6,synonymous_variant,p.=,ENST00000277141,;ZCCHC6,synonymous_variant,p.=,ENST00000375963,NM_024617.3,NM_001185059.1;ZCCHC6,intron_variant,,ENST00000375960,NM_001185074.1;ZCCHC6,upstream_gene_variant,,ENST00000375957,;ZCCHC6,downstream_gene_variant,,ENST00000469004,;	A	ENST00000375963	Transcript	synonymous_variant	3143/5379	2970/4488	990/1495	L	ctG/ctT		1		-1	ZCCHC6	HGNC	HGNC:25817	protein_coding	YES	CCDS35057.1	ENSP00000365130	Q5VYS8		UPI00004588F6	NM_024617.3,NM_001185059.1			14/27		hmmpanther:PTHR12271:SF34,hmmpanther:PTHR12271,Gene3D:4.10.60.10																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	34	86322383	86322383	C	A	1	0	0	0	0	0	0	0	1	18167	697	25	2		2	ZCCHC6	9	86322383	Silent	SNP	C	C3L-02365_TP	13501356	86322383	52072334	195	9671											
SUSD3	0	.	GRCh38	chr9	93077994	93077994	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagcggcggcgctccaacagGtacggtggcctcatgatctc	8	7	13	13	4	2	1	1	1	1	0	4	1	3	1	2	5	3	2	2	5	3	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.425+1G>T		p.X142_splice	ENST00000375472		187	151	36	167	167	0	strelka-varscan-mutect	SUSD3,splice_donor_variant,,ENST00000375472,NM_145006.3;SUSD3,splice_donor_variant,,ENST00000375469,NM_001287005.1;SUSD3,splice_donor_variant,,ENST00000617293,NM_001287006.1;SUSD3,splice_donor_variant,,ENST00000471462,;SUSD3,splice_donor_variant,,ENST00000465709,NM_001287008.1;	T	ENST00000375472	Transcript	splice_donor_variant	-/1195	425/768	142/255				1		1	SUSD3	HGNC	HGNC:28391	protein_coding	YES	CCDS6701.1	ENSP00000364621	Q96L08		UPI0000070B4A	NM_145006.3				3/4																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	34	93077994	93077994	G	T	1	0	0	0	0	0	0	1	0	15794	1275	44	2		2	SUSD3	9	93077994	Splice_Site	SNP	G	C3L-02365_TP	6755611	93077994	45316723	196	9672											
OR1N2	0	.	GRCh38	chr9	122553575	122553575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgcctgctggctgtgatgGcatatgaccgctatgtggcc	6	11	13	11	1	0	2	0	2	0	0	0	2	0	2	3	3	2	4	3	3	2	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.406G>T	p.Ala136Ser	p.A136S	ENST00000373688	1/1	213	166	47	235	234	1	strelka-varscan-mutect	OR1N2,missense_variant,p.Ala136Ser,ENST00000373688,NM_001004457.1;OR1N2,missense_variant,p.Ala118Ser,ENST00000616791,;	T	ENST00000373688	Transcript	missense_variant	464/1103	406/993	136/330	A/S	Gca/Tca		1		1	OR1N2	HGNC	HGNC:15111	protein_coding	YES	CCDS35123.1	ENSP00000362792	Q8NGR9		UPI000004618C	NM_001004457.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF156,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	34	122553575	122553575	G	T	1	0	0	0	0	1	0	0	0	11048	1203	42	2		2	OR1N2	9	122553575	Missense_Mutation	SNP	G	C3L-02365_TP	29475581	122553575	15841142	197	9673											
STXBP1	0	.	GRCh38	chr9	127684406	127684406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcccaccaaatttctcatgGacctgagacaccccgacttc	10	9	5	17	1	1	1	1	1	1	1	4	4	2	2	5	1	0	0	5	1	1	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1741G>C	p.Asp581His	p.D581H	ENST00000373302	19/20	373	308	65	330	330	0	strelka-varscan-mutect	STXBP1,missense_variant,p.Asp581His,ENST00000373302,NM_003165.3;STXBP1,missense_variant,p.Asp567His,ENST00000637521,;STXBP1,missense_variant,p.Asp97His,ENST00000494254,;STXBP1,intron_variant,,ENST00000637173,;STXBP1,intron_variant,,ENST00000637953,;STXBP1,intron_variant,,ENST00000626539,;STXBP1,intron_variant,,ENST00000373299,NM_001032221.3;STXBP1,intron_variant,,ENST00000636962,;STXBP1,intron_variant,,ENST00000626416,;STXBP1,intron_variant,,ENST00000628638,;STXBP1,intron_variant,,ENST00000637464,;STXBP1,intron_variant,,ENST00000636509,;STXBP1,intron_variant,,ENST00000637060,;STXBP1,intron_variant,,ENST00000635950,;	C	ENST00000373302	Transcript	missense_variant	1938/3967	1741/1812	581/603	D/H	Gac/Cac		1		1	STXBP1	HGNC	HGNC:11444	protein_coding	YES	CCDS6874.1	ENSP00000362399	P61764		UPI0000006C0B	NM_003165.3	deleterious(0.01)		19/20		hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF35,PIRSF_domain:PIRSF005715,Gene3D:3.40.50.1910,Superfamily_domains:SSF56815																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	127684406	127684406	G	C	1	0	0	0	0	1	0	0	0	15736	1174	41	4		4	STXBP1	9	127684406	Missense_Mutation	SNP	G	C3L-02365_TP	5130831	127684406	10710311	198	9674											
LAMC3	0	.	GRCh38	chr9	131079161	131079161	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcagcctcagaagtccCgggctgaagacctgggcctg	7	6	13	15	1	1	3	1	1	0	2	2	3	2	3	5	2	2	2	5	2	2	0	rs11244275		C3L-02365_TP	C3L-02365_NB	C	C																c.3790C>A	p.=	p.R1264R	ENST00000361069	23/28	348	261	87	309	308	1	strelka-varscan-mutect	LAMC3,synonymous_variant,p.=,ENST00000361069,NM_006059.3;LAMC3,upstream_gene_variant,,ENST00000355452,;LAMC3,intron_variant,,ENST00000480883,;	A	ENST00000361069	Transcript	synonymous_variant	3923/6133	3790/4728	1264/1575	R	Cgg/Agg	rs11244275	1		1	LAMC3	HGNC	HGNC:6494	protein_coding	YES	CCDS6938.1	ENSP00000354360	Q9Y6N6		UPI000013D6D3	NM_006059.3			23/28		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240										benign,likely_benign							LOW	1	SNV	2		1	1										PASS		rs11244275	.												A	2	1	34	131079161	131079161	C	A	1	0	0	0	0	0	0	0	1	8520	643	23	1		1	LAMC3	9	131079161	Silent	SNP	C	C3L-02365_TP	3394755	131079161	7315556	199	9675											
PRRC2B	0	.	GRCh38	chr9	131436619	131436619	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgccctgcctttgtctaGttccagtgcgacggcctctc	4	12	9	16	2	2	0	0	0	2	0	4	1	3	0	4	1	3	1	4	1	1	3	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.294-1G>T		p.X98_splice	ENST00000357304		107	89	18	89	89	0	strelka-varscan-mutect	PRRC2B,splice_acceptor_variant,,ENST00000357304,NM_013318.3;PRRC2B,splice_acceptor_variant,,ENST00000405995,;	T	ENST00000357304	Transcript	splice_acceptor_variant	-/11042	294/6690	98/2229				1		1	PRRC2B	HGNC	HGNC:28121	protein_coding	YES	CCDS48044.1	ENSP00000349856	Q5JSZ5		UPI00002374A3	NM_013318.3				2/30																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	34	131436619	131436619	G	T	1	0	0	0	0	0	0	1	0	12749	1043	36	2		2	PRRC2B	9	131436619	Splice_Site	SNP	G	C3L-02365_TP	357458	131436619	6958098	200	9676											
QSOX2	0	.	GRCh38	chr9	136208770	136208770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaccttccaccgcctggaCctcacccggaagaagaagta	11	7	9	14	2	1	3	1	1	0	2	2	5	2	5	6	2	0	1	6	2	4	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2055G>T	p.Arg685Ser	p.R685S	ENST00000358701	12/12	120	102	18	85	85	0	strelka-varscan-mutect	QSOX2,missense_variant,p.Arg685Ser,ENST00000358701,NM_181701.3;LHX3,upstream_gene_variant,,ENST00000371748,NM_178138.4;QSOX2,downstream_gene_variant,,ENST00000455222,;	A	ENST00000358701	Transcript	missense_variant	2093/4530	2055/2097	685/698	R/S	agG/agT		1		-1	QSOX2	HGNC	HGNC:30249	protein_coding	YES	CCDS35178.1	ENSP00000351536	Q6ZRP7		UPI00004A7AC1	NM_181701.3	deleterious(0)		12/12		hmmpanther:PTHR22897,hmmpanther:PTHR22897:SF7																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	34	136208770	136208770	C	A	1	0	0	0	0	1	0	0	0	13039	506	18	2		2	QSOX2	9	136208770	Missense_Mutation	SNP	C	C3L-02365_TP	4772151	136208770	2185947	201	9677											
CCDC183	0	.	GRCh38	chr9	136807621	136807621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctacgtcccttcgcgcgcCgagatcaagaggcaggcgca	9	5	13	14	6	1	2	1	0	0	2	3	3	2	2	2	2	2	3	2	2	2	2	rs769002537		C3L-02365_TP	C3L-02365_NB	C	C																c.1536C>T	p.=	p.A512A	ENST00000338005	14/14	264	218	46	182	182	0	strelka-varscan-mutect	CCDC183,synonymous_variant,p.=,ENST00000338005,NM_001039374.4;RABL6,upstream_gene_variant,,ENST00000311502,NM_024718.4;RABL6,upstream_gene_variant,,ENST00000371663,;RABL6,upstream_gene_variant,,ENST00000425121,NM_001173988.1;RABL6,upstream_gene_variant,,ENST00000357466,;RABL6,upstream_gene_variant,,ENST00000371671,NM_001173989.2;CCDC183-AS1,intron_variant,,ENST00000414656,;CCDC183,non_coding_transcript_exon_variant,,ENST00000496839,;CCDC183,non_coding_transcript_exon_variant,,ENST00000484858,;CCDC183,downstream_gene_variant,,ENST00000371682,;CCDC183,3_prime_UTR_variant,,ENST00000479371,;CCDC183,non_coding_transcript_exon_variant,,ENST00000430612,;CCDC183,non_coding_transcript_exon_variant,,ENST00000481601,;RP11-216L13.19,intron_variant,,ENST00000415992,;RP11-216L13.19,intron_variant,,ENST00000459985,;RP11-216L13.18,intron_variant,,ENST00000471502,;RABL6,upstream_gene_variant,,ENST00000484471,;	T	ENST00000338005	Transcript	synonymous_variant	1571/1671	1536/1605	512/534	A	gcC/gcT	rs769002537	1		1	CCDC183	HGNC	HGNC:28236	protein_coding	YES	CCDS43906.1	ENSP00000338013	Q5T5S1		UPI00015E02CD	NM_001039374.4			14/14		hmmpanther:PTHR21694,hmmpanther:PTHR21694:SF16																	LOW	1	SNV	1			1										PASS		rs769002537	.												T	2	4	34	136807621	136807621	C	T	1	0	0	0	0	0	0	0	1	2499	639	23	1		1	CCDC183	9	136807621	Silent	SNP	C	C3L-02365_TP	598851	136807621	1587096	202	9678											
CACNA1B	0	.	GRCh38	chr9	137986464	137986464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgctgaactccatgaaGtccatcatcagcctgctctt	8	12	6	15	0	3	2	2	2	1	0	6	2	6	2	4	0	4	2	4	0	2	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1821G>T	p.Lys607Asn	p.K607N	ENST00000371372	14/47	228	160	68	237	236	1	strelka-varscan-mutect	CACNA1B,missense_variant,p.Lys607Asn,ENST00000371372,NM_000718.3;CACNA1B,missense_variant,p.Lys607Asn,ENST00000371363,;CACNA1B,missense_variant,p.Lys608Asn,ENST00000371355,;CACNA1B,missense_variant,p.Lys608Asn,ENST00000371357,;CACNA1B,missense_variant,p.Lys607Asn,ENST00000277549,;CACNA1B,missense_variant,p.Lys607Asn,ENST00000277551,NM_001243812.1;	T	ENST00000371372	Transcript	missense_variant	1966/9790	1821/7020	607/2339	K/N	aaG/aaT		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3	deleterious(0)		14/47		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161,Superfamily_domains:SSF81324																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	34	137986464	137986464	G	T	1	0	0	0	0	1	0	0	0	2227	1020	36	2		2	CACNA1B	9	137986464	Missense_Mutation	SNP	G	C3L-02365_TP	1178843	137986464	408253	203	9679											
ITIH2	0	.	GRCh38	chr10	7713281	7713281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggcaagacggctggcttgGtgaggtaaggcctgagtgag	10	7	18	6	1	0	4	0	3	0	1	0	4	0	4	1	6	0	4	1	6	3	2			C3L-02365_TP	C3L-02365_NB	G	G																c.463G>T	p.Val155Leu	p.V155L	ENST00000358415	5/21	269	218	51	187	187	0	strelka-varscan-mutect	ITIH2,missense_variant,p.Val155Leu,ENST00000358415,NM_002216.2;ITIH2,missense_variant,p.Val144Leu,ENST00000379587,;ITIH2,missense_variant,p.Val130Leu,ENST00000429820,;ITIH2,non_coding_transcript_exon_variant,,ENST00000480387,;ITIH2,non_coding_transcript_exon_variant,,ENST00000473227,;	T	ENST00000358415	Transcript	missense_variant	629/3193	463/2841	155/946	V/L	Gtg/Ttg	COSM4970421	1		1	ITIH2	HGNC	HGNC:6167	protein_coding	YES	CCDS31141.1	ENSP00000351190	P19823		UPI000036665E	NM_002216.2	deleterious(0.04)		5/21		PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF14,Pfam_domain:PF08487,SMART_domains:SM00609											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	34	7713281	7713281	G	T	1	0	0	0	0	1	0	0	0	7810	1275	44	2		2	ITIH2	10	7713281	Missense_Mutation	SNP	G	C3L-02365_TP		7713281	126084141	204	9680											
MRC1	0	.	GRCh38	chr10	17870315	17870315	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttgtcgagctctgggtGgagacttagctagcatcaat	9	14	11	7	1	2	1	1	0	1	1	3	3	2	1	0	2	3	3	0	2	3	4	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.2053G>T	p.Gly685Ter	p.G685*	ENST00000569591	13/30	413	234	179	289	289	0	strelka-varscan-mutect	MRC1,stop_gained,p.Gly685Ter,ENST00000569591,NM_002438.3;RP11-457D2.3,upstream_gene_variant,,ENST00000442231,;	T	ENST00000569591	Transcript	stop_gained	2175/5198	2053/4371	685/1456	G/*	Gga/Tga		1		1	MRC1	HGNC	HGNC:7228	protein_coding	YES	CCDS7123.2	ENSP00000455897	P22897		UPI000012EB9A	NM_002438.3			13/30		PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF73,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	34	17870315	17870315	G	T	1	0	0	0	0	0	1	0	0	9722	1349	47	2		2	MRC1	10	17870315	Nonsense_Mutation	SNP	G	C3L-02365_TP	10157034	17870315	115927107	205	9681											
PDSS1	0	.	GRCh38	chr10	26705285	26705285	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatttttgcatgtcccaGgtttcatcacacaaccccag	9	12	7	13	0	2	0	2	0	0	0	3	0	3	0	3	1	3	3	3	1	1	3	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.228-1G>T		p.X76_splice	ENST00000376215		370	246	124	342	340	2	strelka-varscan-mutect	PDSS1,splice_acceptor_variant,,ENST00000376215,NM_014317.3;PDSS1,upstream_gene_variant,,ENST00000473224,;	T	ENST00000376215	Transcript	splice_acceptor_variant	-/1626	228/1248	76/415				1		1	PDSS1	HGNC	HGNC:17759	protein_coding	YES	CCDS31168.1	ENSP00000365388	Q5T2R2		UPI000013DB22	NM_014317.3				3/11																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	34	26705285	26705285	G	T	1	0	0	0	0	0	0	1	0	11781	1014	35	2		2	PDSS1	10	26705285	Splice_Site	SNP	G	C3L-02365_TP	8834970	26705285	107092137	206	9682											
MSMB	0	.	GRCh38	chr10	46040010	46040010	+	Nonsense_Mutation	SNP	C	C	A																															ggttgaatctcctggaactcCctcattaggtatgaaatagc																								novel		C3L-02365_TP	C3L-02365_NB	C	C																c.85G>T	p.Gly29Ter	p.G29*	ENST00000582163	2/4	153	127	26	207	206	1	strelka-varscan-mutect	MSMB,stop_gained,p.Gly29Ter,ENST00000582163,NM_002443.3;MSMB,stop_gained,p.Gly29Ter,ENST00000581478,NM_138634.2;	A	ENST00000582163	Transcript	stop_gained	117/488	85/345	29/114	G/*	Gga/Tga		1		-1	MSMB	HGNC	HGNC:7372	protein_coding	YES	CCDS73096.1	ENSP00000463092	P08118		UPI000012F617	NM_002443.3			2/4		hmmpanther:PTHR10500:SF0,hmmpanther:PTHR10500,Pfam_domain:PF05825																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	34	46040010	46040010	C	A	1	0	0	0	0	0	1	0	0	9865	632	22	2		2	MSMB	10	46040010	Nonsense_Mutation	SNP	C	C3L-02365_TP	19334725	46040010	87757412	207	9683	220	2									
MSMB	0	.	GRCh38	chr10	46040011	46040011	+	Missense_Mutation	SNP	C	C	G																															gttgaatctcctggaactccCtcattaggtatgaaatagca																								novel		C3L-02365_TP	C3L-02365_NB	C	C																c.84G>C	p.Glu28Asp	p.E28D	ENST00000582163	2/4	153	126	27	209	209	0	strelka-varscan-mutect	MSMB,missense_variant,p.Glu28Asp,ENST00000582163,NM_002443.3;MSMB,missense_variant,p.Glu28Asp,ENST00000581478,NM_138634.2;	G	ENST00000582163	Transcript	missense_variant	116/488	84/345	28/114	E/D	gaG/gaC		1		-1	MSMB	HGNC	HGNC:7372	protein_coding	YES	CCDS73096.1	ENSP00000463092	P08118		UPI000012F617	NM_002443.3	tolerated(0.28)		2/4		hmmpanther:PTHR10500:SF0,hmmpanther:PTHR10500,Pfam_domain:PF05825																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	46040011	46040011	C	G	1	0	0	0	0	1	0	0	0	9865	680	24	4		4	MSMB	10	46040011	Missense_Mutation	SNP	C	C3L-02365_TP	1	46040011	87757411	208	9684	220	2									
FAM13C	0	.	GRCh38	chr10	59247644	59247644	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccacatcttgcttgctGatgaggacctctaatagtct	8	14	9	10	0	3	2	0	2	3	0	3	3	3	3	2	2	2	2	2	2	2	5	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1728C>A	p.=	p.I576I	ENST00000618804	14/14	269	202	67	336	335	1	strelka-varscan-mutect	FAM13C,synonymous_variant,p.=,ENST00000618427,NM_001166698.1;FAM13C,synonymous_variant,p.=,ENST00000621119,;FAM13C,synonymous_variant,p.=,ENST00000614220,;FAM13C,synonymous_variant,p.=,ENST00000618804,NM_198215.3;FAM13C,synonymous_variant,p.=,ENST00000611933,NM_001001971.2;FAM13C,synonymous_variant,p.=,ENST00000468840,NM_001143773.1;PHYHIPL,3_prime_UTR_variant,,ENST00000373880,NM_032439.3;PHYHIPL,3_prime_UTR_variant,,ENST00000373878,NM_001143774.1;FAM13C,downstream_gene_variant,,ENST00000435852,;FAM13C,3_prime_UTR_variant,,ENST00000622363,;PHYHIPL,downstream_gene_variant,,ENST00000486074,;FAM13C,downstream_gene_variant,,ENST00000489341,;	T	ENST00000618804	Transcript	synonymous_variant	1818/3333	1728/1758	576/585	I	atC/atA		1		-1	FAM13C	HGNC	HGNC:19371	protein_coding	YES	CCDS7255.1	ENSP00000481854	Q8NE31		UPI00001AEA18	NM_198215.3			14/14		hmmpanther:PTHR15904:SF19,hmmpanther:PTHR15904																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	34	59247644	59247644	G	T	1	0	0	0	0	0	0	0	1	5303	1280	45	2		2	FAM13C	10	59247644	Silent	SNP	G	C3L-02365_TP	13207633	59247644	74549778	209	9685											
HERC4	0	.	GRCh38	chr10	68014167	68014167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcgtcctgatgaaggaaCaaaagcagaagtgtgctgcc	14	8	11	8	1	0	3	0	2	0	1	2	4	1	4	2	1	4	2	2	1	6	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.928G>T	p.Val310Phe	p.V310F	ENST00000395198	9/26	89	68	21	98	98	0	strelka-mutect	HERC4,missense_variant,p.Val310Phe,ENST00000395198,NM_022079.2;HERC4,missense_variant,p.Val200Phe,ENST00000277817,;HERC4,missense_variant,p.Val310Phe,ENST00000412272,NM_001278185.1;HERC4,missense_variant,p.Val310Phe,ENST00000373700,NM_015601.3,NM_001278186.1;HERC4,missense_variant,p.Val307Phe,ENST00000427635,;HERC4,3_prime_UTR_variant,,ENST00000473533,;POU5F1P5,upstream_gene_variant,,ENST00000445059,;	A	ENST00000395198	Transcript	missense_variant	1176/4445	928/3174	310/1057	V/F	Gtt/Ttt		1		-1	HERC4	HGNC	HGNC:24521	protein_coding	YES	CCDS41533.1	ENSP00000378624	Q5GLZ8		UPI00004C6F56	NM_022079.2	deleterious(0)		9/26		PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF285,Gene3D:2.130.10.30,Superfamily_domains:SSF50985,Prints_domain:PR00633																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	68014167	68014167	C	A	1	0	0	0	0	1	0	0	0	6944	478	17	2		2	HERC4	10	68014167	Missense_Mutation	SNP	C	C3L-02365_TP	8766523	68014167	65783255	210	9686											
CDH23	0	.	GRCh38	chr10	71679419	71679419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcccctcccaacaaccaGatcacctacagcattgtcag	12	7	5	17	0	2	1	2	0	0	1	4	2	4	1	5	0	4	1	5	0	3	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1800G>T	p.Gln600His	p.Q600H	ENST00000224721	17/70	320	253	67	296	296	0	strelka-varscan-mutect	CDH23,missense_variant,p.Gln600His,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Gln595His,ENST00000622827,;CDH23,missense_variant,p.Gln187His,ENST00000442677,;CDH23,missense_variant,p.Gln595His,ENST00000616684,NM_001171930.1;CDH23,missense_variant,p.Gln595His,ENST00000398809,;CDH23,missense_variant,p.Gln406His,ENST00000466757,;CDH23,missense_variant,p.Gln595His,ENST00000299366,NM_001171931.1;	T	ENST00000224721	Transcript	missense_variant	2190/11139	1800/10080	600/3359	Q/H	caG/caT		1		1	CDH23	HGNC	HGNC:13733	protein_coding			ENSP00000224721		A0A0A0MQS6	UPI0002B831D5	NM_022124.5	tolerated(0.56)		17/70		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF277,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	34	71679419	71679419	G	T	1	0	0	0	0	1	0	0	0	2811	933	33	2		2	CDH23	10	71679419	Missense_Mutation	SNP	G	C3L-02365_TP	3665252	71679419	62118003	211	9687											
LIPM	0	.	GRCh38	chr10	88817871	88817871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttgactgggggagtgagaCcaaaaatctggaaaaatgca	16	8	12	5	0	1	2	0	2	1	1	1	5	1	4	1	3	1	1	1	3	4	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.977C>T	p.Thr326Ile	p.T326I	ENST00000404743	8/9	134	107	27	190	190	0	strelka-varscan-mutect	LIPM,missense_variant,p.Thr326Ile,ENST00000404743,NM_001128215.1;LIPM,missense_variant,p.Thr286Ile,ENST00000539337,;ANKRD22,downstream_gene_variant,,ENST00000371930,NM_144590.2;ANKRD22,downstream_gene_variant,,ENST00000476963,;	T	ENST00000404743	Transcript	missense_variant	1144/1439	977/1272	326/423	T/I	aCc/aTc		1		1	LIPM	HGNC	HGNC:23455	protein_coding	YES	CCDS44457.1	ENSP00000383901	Q5VYY2		UPI00004B21B5	NM_001128215.1	tolerated(0.39)		8/9		Gene3D:3.40.50.1820,Pfam_domain:PF00561,PIRSF_domain:PIRSF000862,hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF12,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	88817871	88817871	C	T	1	0	0	0	0	1	0	0	0	8749	507	18	3		3	LIPM	10	88817871	Missense_Mutation	SNP	C	C3L-02365_TP	17138452	88817871	44979551	212	9688											
GOT1	0	.	GRCh38	chr10	99406812	99406812	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaatcagctccaattcgaAgtgcacctgttccccccaaa	13	8	6	14	1	1	1	1	0	0	1	4	2	3	1	5	0	2	3	5	0	4	2	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.338T>G	p.Leu113Arg	p.L113R	ENST00000370508	3/9	139	106	33	121	121	0	strelka-varscan-mutect	GOT1,missense_variant,p.Leu113Arg,ENST00000370508,NM_002079.2;GOT1,upstream_gene_variant,,ENST00000489349,;	C	ENST00000370508	Transcript	missense_variant	366/1947	338/1242	113/413	L/R	cTt/cGt		1		-1	GOT1	HGNC	HGNC:4432	protein_coding	YES	CCDS7479.1	ENSP00000359539	P17174	A0A140VK69	UPI000013CA75	NM_002079.2	deleterious(0)		3/9		hmmpanther:PTHR11879:SF3,hmmpanther:PTHR11879,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	99406812	99406812	A	C	1	0	0	0	0	1	0	0	0	6473	72	3	5		5	GOT1	10	99406812	Missense_Mutation	SNP	A	C3L-02365_TP	10588941	99406812	34390610	213	9689											
ABCC2	0	.	GRCh38	chr10	99784685	99784685	+	Missense_Mutation	SNP	G	G	T																															gttctggtgtggattcccttGggctacctatggctcctggc																								novel		C3L-02365_TP	C3L-02365_NB	G	G																c.111G>T	p.Leu37Phe	p.L37F	ENST00000370449	2/32	281	215	66	255	255	0	strelka-varscan-mutect	ABCC2,missense_variant,p.Leu37Phe,ENST00000370449,NM_000392.4;ABCC2,missense_variant,p.Leu37Phe,ENST00000370434,;NANOGP6,downstream_gene_variant,,ENST00000429190,;	T	ENST00000370449	Transcript	missense_variant	224/5312	111/4638	37/1545	L/F	ttG/ttT		1		1	ABCC2	HGNC	HGNC:53	protein_coding	YES	CCDS7484.1	ENSP00000359478	Q92887		UPI000013D6CA	NM_000392.4	deleterious(0.01)		2/32		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF176,TIGRFAM_domain:TIGR00957,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	99784685	99784685	G	T	1	0	0	0	0	1	0	0	0	57	1339	47	2		2	ABCC2	10	99784685	Missense_Mutation	SNP	G	C3L-02365_TP	377873	99784685	34012737	214	9690	221	2									
ABCC2	0	.	GRCh38	chr10	99784686	99784686	+	Missense_Mutation	SNP	G	G	T																															ttctggtgtggattcccttgGgctacctatggctcctggcc																								novel		C3L-02365_TP	C3L-02365_NB	G	G																c.112G>T	p.Gly38Cys	p.G38C	ENST00000370449	2/32	276	212	64	253	252	1	strelka-varscan-mutect	ABCC2,missense_variant,p.Gly38Cys,ENST00000370449,NM_000392.4;ABCC2,missense_variant,p.Gly38Cys,ENST00000370434,;NANOGP6,downstream_gene_variant,,ENST00000429190,;	T	ENST00000370449	Transcript	missense_variant	225/5312	112/4638	38/1545	G/C	Ggc/Tgc		1		1	ABCC2	HGNC	HGNC:53	protein_coding	YES	CCDS7484.1	ENSP00000359478	Q92887		UPI000013D6CA	NM_000392.4	deleterious(0.02)		2/32		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF176,TIGRFAM_domain:TIGR00957,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	99784686	99784686	G	T	1	0	0	0	0	1	0	0	0	57	1232	43	2		2	ABCC2	10	99784686	Missense_Mutation	SNP	G	C3L-02365_TP	1	99784686	34012736	215	9691	221	2									
PPRC1	0	.	GRCh38	chr10	102147263	102147263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggctggcagggccgccgagGccgcaacagccgttctgtca	6	5	16	14	4	2	0	1	0	1	0	2	1	2	0	4	4	2	4	4	4	1	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.4271G>T	p.Gly1424Val	p.G1424V	ENST00000278070	9/14	365	296	69	330	329	1	strelka-varscan-mutect	PPRC1,missense_variant,p.Gly1424Val,ENST00000278070,NM_001288728.1,NM_015062.4;PPRC1,missense_variant,p.Gly391Val,ENST00000370012,;PPRC1,intron_variant,,ENST00000413464,NM_001288727.1;NOLC1,upstream_gene_variant,,ENST00000405356,NM_001284388.1;NOLC1,upstream_gene_variant,,ENST00000605788,NM_004741.4;PPRC1,intron_variant,,ENST00000489648,;PPRC1,downstream_gene_variant,,ENST00000462933,;PPRC1,upstream_gene_variant,,ENST00000495914,;	T	ENST00000278070	Transcript	missense_variant	4310/5330	4271/4995	1424/1664	G/V	gGc/gTc		1		1	PPRC1	HGNC	HGNC:30025	protein_coding	YES	CCDS7529.1	ENSP00000278070	Q5VV67		UPI000013DB5C	NM_001288728.1,NM_015062.4	deleterious_low_confidence(0.01)		9/14		hmmpanther:PTHR15528,hmmpanther:PTHR15528:SF5,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	102147263	102147263	G	T	1	0	0	0	0	1	0	0	0	12537	1203	42	2		2	PPRC1	10	102147263	Missense_Mutation	SNP	G	C3L-02365_TP	2362577	102147263	31650159	216	9692											
SUFU	0	.	GRCh38	chr10	102617530	102617530	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatggcaccccttcctggggGgctggtcatgaatgcctcat	6	10	13	12	0	2	1	2	1	0	0	3	2	3	1	4	5	1	2	4	5	1	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1398G>T	p.=	p.G466G	ENST00000423559	10/10	54	47	7	88	88	0	strelka-varscan-mutect	SUFU,synonymous_variant,p.=,ENST00000423559,;SUFU,intron_variant,,ENST00000369902,NM_016169.3;SUFU,intron_variant,,ENST00000369899,NM_001178133.1;	T	ENST00000423559	Transcript	synonymous_variant	1472/2601	1398/1446	466/481	G	ggG/ggT		1		1	SUFU	HGNC	HGNC:16466	protein_coding			ENSP00000411597	Q9UMX1		UPI000006D11C				10/10																			LOW		SNV	1			1										PASS		.	.												T	2	4	34	102617530	102617530	G	T	1	0	0	0	0	0	0	0	1	15753	1219	43	2		2	SUFU	10	102617530	Silent	SNP	G	C3L-02365_TP	470267	102617530	31179892	217	9693											
TCF7L2	0	.	GRCh38	chr10	113089470	113089470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctcagacttcactgtcaGcactcaagtcttcagggaca	10	9	7	15	0	6	1	5	0	1	1	6	2	6	2	2	1	1	1	2	1	1	2			C3L-02365_TP	C3L-02365_NB	G	G																c.239G>T	p.Ser80Ile	p.S80I	ENST00000542695	5/15	216	174	42	250	249	1	strelka-varscan-mutect	TCF7L2,missense_variant,p.Ser80Ile,ENST00000542695,;TCF7L2,missense_variant,p.Ser185Ile,ENST00000355717,NM_001146286.1,NM_001146283.1;TCF7L2,missense_variant,p.Ser155Ile,ENST00000346198,;TCF7L2,intron_variant,,ENST00000355995,;TCF7L2,intron_variant,,ENST00000543371,;TCF7L2,intron_variant,,ENST00000538897,NM_001198529.1,NM_001146284.1,NM_001198531.1;TCF7L2,intron_variant,,ENST00000536810,NM_001146285.1;TCF7L2,intron_variant,,ENST00000369397,NM_030756.4;TCF7L2,intron_variant,,ENST00000534894,NM_001198530.1;TCF7L2,intron_variant,,ENST00000627217,NM_001146274.1;TCF7L2,intron_variant,,ENST00000545257,NM_001198525.1;TCF7L2,intron_variant,,ENST00000629706,NM_001198526.1;TCF7L2,intron_variant,,ENST00000352065,NM_001198528.1;TCF7L2,intron_variant,,ENST00000369395,NM_001198527.1;	T	ENST00000542695	Transcript	missense_variant	1064/4136	239/1605	80/534	S/I	aGc/aTc	COSM4552290	1		1	TCF7L2	HGNC	HGNC:11641	protein_coding			ENSP00000443883		C6ZRJ6	UPI0001AF9FEB		tolerated_low_confidence(0.06)		5/15		Pfam_domain:PF08347											1						MODERATE		SNV	5		1	1										PASS		.	.												T	3	4	34	113089470	113089470	G	T	1	0	0	0	0	1	0	0	0	16105	971	34	2		2	TCF7L2	10	113089470	Missense_Mutation	SNP	G	C3L-02365_TP	10471940	113089470	20707952	218	9694											
CCDC186	0	.	GRCh38	chr10	114151218	114151218	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttcttctattcttgattcTaactgtaaagaaaattattt	13	19	4	5	0	4	2	0	1	4	1	4	2	4	2	0	0	1	2	0	0	7	10	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.762A>T	p.Leu254Phe	p.L254F	ENST00000369287	4/16	110	77	33	103	103	0	strelka-varscan-mutect	CCDC186,missense_variant,p.Leu254Phe,ENST00000369287,NM_001321829.1,NM_018017.2;	A	ENST00000369287	Transcript	missense_variant,splice_region_variant	1029/7245	762/2697	254/898	L/F	ttA/ttT		1		-1	CCDC186	HGNC	HGNC:24349	protein_coding	YES	CCDS7587.1	ENSP00000358293	Q7Z3E2		UPI00001D3EF5	NM_001321829.1,NM_018017.2	deleterious(0.02)		4/16		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18911																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	114151218	114151218	T	A	1	0	0	0	0	1	0	0	0	2502	1536	53	4		4	CCDC186	10	114151218	Missense_Mutation	SNP	T	C3L-02365_TP	1061748	114151218	19646204	219	9695											
PTPRE	0	.	GRCh38	chr10	128076603	128076603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttttattttatcccctaagGataaatgctaccagtattgg	11	17	6	7	0	0	0	0	0	0	0	1	1	1	1	3	2	2	2	3	2	7	10	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1600G>T	p.Asp534Tyr	p.D534Y	ENST00000254667	18/21	111	93	18	127	127	0	strelka-varscan-mutect	PTPRE,missense_variant,p.Asp534Tyr,ENST00000254667,NM_001323355.1,NM_001316676.1,NM_001323356.1,NM_006504.4;PTPRE,missense_variant,p.Asp476Tyr,ENST00000306042,NM_001323357.1,NM_130435.3;PTPRE,splice_region_variant,,ENST00000479896,;PTPRE,downstream_gene_variant,,ENST00000463727,;	T	ENST00000254667	Transcript	missense_variant,splice_region_variant	1879/5331	1600/2103	534/700	D/Y	Gat/Tat		1		1	PTPRE	HGNC	HGNC:9669	protein_coding	YES	CCDS7657.1	ENSP00000254667	P23469		UPI0000132991	NM_001323355.1,NM_001316676.1,NM_001323356.1,NM_006504.4	deleterious(0.01)		18/21		Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF002006,PROSITE_profiles:PS50055,SMART_domains:SM00194,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	128076603	128076603	G	T	1	0	0	0	0	1	0	0	0	12954	1188	41	2		2	PTPRE	10	128076603	Missense_Mutation	SNP	G	C3L-02365_TP	13925385	128076603	5720819	220	9696											
STK32C	0	.	GRCh38	chr10	132222736	132222736	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggactccaggatcatctcctCcagctcaaaggtggggtcgc	8	8	12	13	1	3	0	2	0	1	0	7	2	5	2	3	5	1	1	3	5	1	0	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1156G>C	p.Glu386Gln	p.E386Q	ENST00000298630	10/12	256	206	50	254	254	0	strelka-varscan-mutect	STK32C,missense_variant,p.Glu386Gln,ENST00000298630,NM_173575.2;STK32C,missense_variant,p.Glu269Gln,ENST00000368622,NM_001318879.1;STK32C,downstream_gene_variant,,ENST00000368620,;STK32C,non_coding_transcript_exon_variant,,ENST00000462160,;	G	ENST00000298630	Transcript	missense_variant	1263/2086	1156/1461	386/486	E/Q	Gag/Cag		1		-1	STK32C	HGNC	HGNC:21332	protein_coding	YES	CCDS7666.1	ENSP00000298630	Q86UX6	A0A140VJW0	UPI0000192113	NM_173575.2	deleterious(0)		10/12		hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF153,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	132222736	132222736	C	G	1	0	0	0	0	1	0	0	0	15676	864	30	4		4	STK32C	10	132222736	Missense_Mutation	SNP	C	C3L-02365_TP	4146133	132222736	1574686	221	9697											
OR51S1	0	.	GRCh38	chr11	4849045	4849045	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgcagggcaatgatcCagaggatggtgccatttccc	8	8	14	11	1	0	2	0	1	0	1	2	3	2	3	3	4	2	3	3	4	1	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.164G>A	p.Trp55Ter	p.W55*	ENST00000322101	1/1	257	243	14	245	244	1	strelka-varscan-mutect	OR51S1,stop_gained,p.Trp55Ter,ENST00000322101,NM_001004758.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	T	ENST00000322101	Transcript	stop_gained	164/972	164/972	55/323	W/*	tGg/tAg		1		-1	OR51S1	HGNC	HGNC:15204	protein_coding	YES	CCDS31362.1	ENSP00000322754	Q8NGJ8	A0A126GWN3	UPI0000041C33	NM_001004758.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF73,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	HIGH		SNV				1										PASS		.	.												T	4	4	34	4849045	4849045	C	T	1	0	0	0	0	0	1	0	0	11179	595	21	3		3	OR51S1	11	4849045	Nonsense_Mutation	SNP	C	C3L-02365_TP		4849045	130237577	222	9698											
OR52A5	0	.	GRCh38	chr11	5132505	5132505	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatttgattataactaaaatTagggaatttccaatcacacc	16	14	4	7	0	1	1	1	1	0	0	2	2	2	2	2	1	1	0	2	1	8	7	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.138A>T	p.=	p.L46L	ENST00000307388	1/1	173	129	44	184	184	0	strelka-varscan-mutect	OR52A5,synonymous_variant,p.=,ENST00000307388,NM_001005160.2;	A	ENST00000307388	Transcript	synonymous_variant	138/951	138/951	46/316	L	ctA/ctT		1		-1	OR52A5	HGNC	HGNC:19580	protein_coding	YES	CCDS31373.1	ENSP00000303469	Q9H2C5	A0A126GWD2	UPI0000046AEF	NM_001005160.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF48,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												A	2	1	34	5132505	5132505	T	A	1	0	0	0	0	0	0	0	1	11183	1741	61	4		4	OR52A5	11	5132505	Silent	SNP	T	C3L-02365_TP	283460	5132505	129954117	223	9699											
OR52N2	0	.	GRCh38	chr11	5820396	5820396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatcttgaatggcgttcctGggctggaagccacacacatc	9	11	10	11	1	1	1	0	1	1	0	3	2	2	2	2	3	1	2	2	3	3	3	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.61G>T	p.Gly21Trp	p.G21W	ENST00000317037	1/1	234	197	37	208	207	1	strelka-varscan-mutect	OR52N2,missense_variant,p.Gly21Trp,ENST00000317037,NM_001005174.1;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	T	ENST00000317037	Transcript	missense_variant	83/1035	61/966	21/321	G/W	Ggg/Tgg		1		1	OR52N2	HGNC	HGNC:15228	protein_coding	YES	CCDS31399.1	ENSP00000322801	Q8NGI0		UPI0000041BEB	NM_001005174.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF185,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	34	5820396	5820396	G	T	1	0	0	0	0	1	0	0	0	11201	1348	47	2		2	OR52N2	11	5820396	Missense_Mutation	SNP	G	C3L-02365_TP	687891	5820396	129266226	224	9700											
GAS2	0	.	GRCh38	chr11	22726300	22726300	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatttttcagaatctaccGttgaagaagatcccatgcaa	13	14	6	8	1	2	4	1	1	1	3	3	4	3	4	2	0	2	2	2	0	6	6	rs371383777		C3L-02365_TP	C3L-02365_NB	G	G																c.276G>A	p.=	p.P92P	ENST00000454584	4/8	155	125	30	146	146	0	strelka-varscan-mutect	GAS2,synonymous_variant,p.=,ENST00000454584,NM_001143830.1;GAS2,synonymous_variant,p.=,ENST00000278187,NM_177553.2,NM_005256.3;GAS2,synonymous_variant,p.=,ENST00000528582,;GAS2,synonymous_variant,p.=,ENST00000532398,;GAS2,synonymous_variant,p.=,ENST00000630668,;GAS2,synonymous_variant,p.=,ENST00000534801,;GAS2,synonymous_variant,p.=,ENST00000533363,;GAS2,synonymous_variant,p.=,ENST00000524701,;	A	ENST00000454584	Transcript	synonymous_variant	581/2286	276/942	92/313	P	ccG/ccA	rs371383777,COSM2112696	1		1	GAS2	HGNC	HGNC:4167	protein_coding	YES	CCDS7858.1	ENSP00000401145	O43903		UPI000000D98C	NM_001143830.1			4/8		PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF298,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576											0,1						LOW	1	SNV	1		0,1	1										PASS		rs371383777	.												A	2	1	34	22726300	22726300	G	A	1	0	0	0	0	0	0	0	1	6115	1132	40	1		1	GAS2	11	22726300	Silent	SNP	G	C3L-02365_TP	16905904	22726300	112360322	225	9701											
KIF18A	0	.	GRCh38	chr11	28036259	28036259	+	Missense_Mutation	SNP	T	T	A																															catttggtagtgattcttgtTcgggtaatttacacttcgag																								novel		C3L-02365_TP	C3L-02365_NB	T	T																c.2354A>T	p.Glu785Val	p.E785V	ENST00000263181	14/17	103	93	10	115	115	0	strelka-varscan-mutect	KIF18A,missense_variant,p.Glu785Val,ENST00000263181,NM_031217.3;	A	ENST00000263181	Transcript	missense_variant	2645/3568	2354/2697	785/898	E/V	gAa/gTa		1		-1	KIF18A	HGNC	HGNC:29441	protein_coding	YES	CCDS7867.1	ENSP00000263181	Q8NI77		UPI0000037CCC	NM_031217.3	tolerated(0.31)		14/17																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	28036259	28036259	T	A	1	0	0	0	0	1	0	0	0	8144	1783	62	4		4	KIF18A	11	28036259	Missense_Mutation	SNP	T	C3L-02365_TP	5309959	28036259	107050363	226	9702	222	2									
KIF18A	0	.	GRCh38	chr11	28036260	28036260	+	Nonsense_Mutation	SNP	C	C	A																															atttggtagtgattcttgttCgggtaatttacacttcgagc																								rs374708406		C3L-02365_TP	C3L-02365_NB	C	C																c.2353G>T	p.Glu785Ter	p.E785*	ENST00000263181	14/17	103	92	11	117	117	0	strelka-varscan-mutect	KIF18A,stop_gained,p.Glu785Ter,ENST00000263181,NM_031217.3;	A	ENST00000263181	Transcript	stop_gained	2644/3568	2353/2697	785/898	E/*	Gaa/Taa	rs374708406	1		-1	KIF18A	HGNC	HGNC:29441	protein_coding	YES	CCDS7867.1	ENSP00000263181	Q8NI77		UPI0000037CCC	NM_031217.3			14/17																			HIGH	1	SNV	1			1										PASS		rs374708406	.												A	4	1	34	28036260	28036260	C	A	1	0	0	0	0	0	1	0	0	8144	893	31	1		1	KIF18A	11	28036260	Nonsense_Mutation	SNP	C	C3L-02365_TP	1	28036260	107050362	227	9703	222	2									
HIPK3	0	.	GRCh38	chr11	33339520	33339520	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgaaacatcttctagatttCcctcatagcaaccagtatgt	13	13	5	10	0	3	2	1	1	2	1	4	2	4	2	2	0	3	2	2	0	5	5			C3L-02365_TP	C3L-02365_NB	C	C																c.1599C>T	p.=	p.F533F	ENST00000303296	6/17	77	72	5	88	88	0	strelka-varscan-mutect	HIPK3,synonymous_variant,p.=,ENST00000303296,NM_005734.4;HIPK3,synonymous_variant,p.=,ENST00000456517,NM_001278162.1;HIPK3,synonymous_variant,p.=,ENST00000379016,NM_001048200.2;HIPK3,synonymous_variant,p.=,ENST00000525975,NM_001278163.1;HIPK3,downstream_gene_variant,,ENST00000534262,;	T	ENST00000303296	Transcript	synonymous_variant	1904/7408	1599/3648	533/1215	F	ttC/ttT	COSM3446853	1		1	HIPK3	HGNC	HGNC:4915	protein_coding	YES	CCDS7884.1	ENSP00000304226	Q9H422		UPI000006D7F8	NM_005734.4			6/17		hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF45,Superfamily_domains:SSF56112											1						LOW	1	SNV	5		1	1										PASS		.	.												T	2	4	34	33339520	33339520	C	T	1	0	0	0	0	0	0	0	1	7006	854	30	3		3	HIPK3	11	33339520	Silent	SNP	C	C3L-02365_TP	5303260	33339520	101747102	228	9704											
LRRC4C	0	.	GRCh38	chr11	40116169	40116169	+	Missense_Mutation	SNP	C	C	A																															agggcaggtctgagcccgcaCcagaccagccaccacaagaa																								novel		C3L-02365_TP	C3L-02365_NB	C	C																c.124G>T	p.Val42Leu	p.V42L	ENST00000278198	2/2	220	184	36	186	186	0	strelka-varscan-mutect	LRRC4C,missense_variant,p.Val42Leu,ENST00000278198,;LRRC4C,missense_variant,p.Val42Leu,ENST00000527150,;LRRC4C,missense_variant,p.Val42Leu,ENST00000530763,NM_020929.2;LRRC4C,missense_variant,p.Val42Leu,ENST00000528697,NM_001258419.1;LRRC4C,missense_variant,p.Val42Leu,ENST00000619527,;LRRC4C,downstream_gene_variant,,ENST00000533474,;RP11-454H19.2,upstream_gene_variant,,ENST00000624239,;	A	ENST00000278198	Transcript	missense_variant	2088/4054	124/1923	42/640	V/L	Gtg/Ttg		1		-1	LRRC4C	HGNC	HGNC:29317	protein_coding	YES	CCDS31464.1	ENSP00000278198	Q9HCJ2		UPI000000D9A7		tolerated(0.39)		2/2		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	40116169	40116169	C	A	1	0	0	0	0	1	0	0	0	8903	507	18	2		2	LRRC4C	11	40116169	Missense_Mutation	SNP	C	C3L-02365_TP	6776649	40116169	94970453	229	9705	223	2									
LRRC4C	0	.	GRCh38	chr11	40116170	40116170	+	Silent	SNP	C	C	T																															gggcaggtctgagcccgcacCagaccagccaccacaagaag																								novel		C3L-02365_TP	C3L-02365_NB	C	C																c.123G>A	p.=	p.L41L	ENST00000278198	2/2	218	185	33	193	193	0	strelka-varscan-mutect	LRRC4C,synonymous_variant,p.=,ENST00000278198,;LRRC4C,synonymous_variant,p.=,ENST00000527150,;LRRC4C,synonymous_variant,p.=,ENST00000530763,NM_020929.2;LRRC4C,synonymous_variant,p.=,ENST00000528697,NM_001258419.1;LRRC4C,synonymous_variant,p.=,ENST00000619527,;LRRC4C,synonymous_variant,p.=,ENST00000533474,;RP11-454H19.2,upstream_gene_variant,,ENST00000624239,;	T	ENST00000278198	Transcript	synonymous_variant	2087/4054	123/1923	41/640	L	ctG/ctA		1		-1	LRRC4C	HGNC	HGNC:29317	protein_coding	YES	CCDS31464.1	ENSP00000278198	Q9HCJ2		UPI000000D9A7				2/2		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF8																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	34	40116170	40116170	C	T	1	0	0	0	0	0	0	0	1	8903	581	21	3		3	LRRC4C	11	40116170	Silent	SNP	C	C3L-02365_TP	1	40116170	94970452	230	9706	223	2									
CKAP5	0	.	GRCh38	chr11	46759419	46759419	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgggctgcctcaggaTgcccactcatgcttcgggct	5	10	11	15	1	3	0	2	0	1	0	4	1	3	1	3	3	3	3	3	3	0	1	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.4418A>T	p.His1473Leu	p.H1473L	ENST00000529230	34/44	154	110	44	145	145	0	strelka-varscan-mutect	CKAP5,missense_variant,p.His1473Leu,ENST00000529230,NM_001008938.3;CKAP5,missense_variant,p.His1473Leu,ENST00000312055,NM_014756.3;CKAP5,missense_variant,p.His1473Leu,ENST00000354558,;CKAP5,missense_variant,p.His37Leu,ENST00000526876,;CKAP5,missense_variant,p.His30Leu,ENST00000527333,;SNORD67,downstream_gene_variant,,ENST00000390833,;SNORD67,upstream_gene_variant,,ENST00000516618,;CKAP5,non_coding_transcript_exon_variant,,ENST00000533413,;CKAP5,downstream_gene_variant,,ENST00000526943,;	A	ENST00000529230	Transcript	missense_variant	4465/7121	4418/6099	1473/2032	H/L	cAt/cTt		1		-1	CKAP5	HGNC	HGNC:28959	protein_coding	YES	CCDS31477.1	ENSP00000432768	Q14008		UPI000013F21E	NM_001008938.3	tolerated(0.29)		34/44		hmmpanther:PTHR12609:SF0,hmmpanther:PTHR12609																	MODERATE	1	SNV	5			1										PASS		rs1182184453	.												A	3	1	34	46759419	46759419	T	A	1	0	0	0	0	1	0	0	0	3208	1464	51	4		4	CKAP5	11	46759419	Missense_Mutation	SNP	T	C3L-02365_TP	6643249	46759419	88327203	231	9707											
OR4C6	0	.	GRCh38	chr11	55665457	55665457	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctctcaaaggctgcctcacCcagctgtttgtggagcattt	7	13	9	12	0	3	0	2	0	1	0	4	1	3	1	2	2	3	4	2	2	1	2	rs77687368		C3L-02365_TP	C3L-02365_NB	C	C																c.291C>A	p.=	p.T97T	ENST00000314259	1/1	368	306	62	393	393	0	strelka-varscan-mutect	OR4C6,synonymous_variant,p.=,ENST00000314259,NM_001004704.1;	A	ENST00000314259	Transcript	synonymous_variant	291/930	291/930	97/309	T	acC/acA	rs77687368,COSM543456	1		1	OR4C6	HGNC	HGNC:14743	protein_coding	YES	CCDS31506.1	ENSP00000324769	Q8NH72	A0A126GVN0	UPI0000041868	NM_001004704.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF80,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						LOW	1	SNV			0,1	1										PASS		rs77687368	.												A	2	1	34	55665457	55665457	C	A	1	0	0	0	0	0	0	0	1	11129	610	22	2		2	OR4C6	11	55665457	Silent	SNP	C	C3L-02365_TP	8906038	55665457	79421165	232	9708											
OR5F1	0	.	GRCh38	chr11	55994447	55994447	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggttagccaggaagaaaTacatgggtgtgtgaagctgg	13	8	15	5	0	0	2	0	1	0	1	0	3	0	3	1	4	3	2	1	4	5	2	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.179A>G	p.Tyr60Cys	p.Y60C	ENST00000278409	1/1	132	110	22	107	107	0	strelka-varscan-mutect	OR5F1,missense_variant,p.Tyr60Cys,ENST00000278409,NM_003697.1;	C	ENST00000278409	Transcript	missense_variant	179/945	179/945	60/314	Y/C	tAt/tGt		1		-1	OR5F1	HGNC	HGNC:8343	protein_coding	YES	CCDS31515.1	ENSP00000278409	O95221		UPI0000041D19	NM_003697.1	deleterious(0.02)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF168,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	34	55994447	55994447	T	C	1	0	0	0	0	1	0	0	0	11228	1406	49	5		5	OR5F1	11	55994447	Missense_Mutation	SNP	T	C3L-02365_TP	328990	55994447	79092175	233	9709											
OR8I2	0	.	GRCh38	chr11	56093499	56093499	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctatgtactttttcctgagCaatttagcatttattgacat	10	18	5	8	0	0	2	0	2	0	0	1	2	1	2	2	0	3	3	2	0	5	9			C3L-02365_TP	C3L-02365_NB	C	C																c.192C>A	p.Ser64Arg	p.S64R	ENST00000302124	1/1	124	103	21	134	134	0	strelka-varscan-mutect	OR8I2,missense_variant,p.Ser64Arg,ENST00000302124,NM_001003750.1;OR8I4P,downstream_gene_variant,,ENST00000526965,;	A	ENST00000302124	Transcript	missense_variant	192/933	192/933	64/310	S/R	agC/agA	COSM1171806	1		1	OR8I2	HGNC	HGNC:15310	protein_coding	YES	CCDS31517.1	ENSP00000303864	Q8N0Y5		UPI0000041D16	NM_001003750.1	deleterious(0.04)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	34	56093499	56093499	C	A	1	0	0	0	0	1	0	0	0	11308	709	25	2		2	OR8I2	11	56093499	Missense_Mutation	SNP	C	C3L-02365_TP	99052	56093499	78993123	234	9710											
OR8J3	0	.	GRCh38	chr11	56137320	56137320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgccgagacaccaccacCatgtagagcagagggttaca	13	4	11	13	2	0	3	0	0	0	3	0	4	0	3	5	1	3	3	5	1	2	2	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.399G>A	p.Met133Ile	p.M133I	ENST00000301529	1/1	193	132	61	197	197	0	strelka-varscan-mutect	OR8J3,missense_variant,p.Met133Ile,ENST00000301529,NM_001004064.1;OR5BN1P,upstream_gene_variant,,ENST00000532955,;	T	ENST00000301529	Transcript	missense_variant	399/948	399/948	133/315	M/I	atG/atA		1		-1	OR8J3	HGNC	HGNC:15312	protein_coding	YES	CCDS31520.1	ENSP00000301529	Q8NGG0	A0A126GVE3	UPI0000061E99	NM_001004064.1	tolerated(0.2)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF249,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	34	56137320	56137320	C	T	1	0	0	0	0	1	0	0	0	11310	594	21	3		3	OR8J3	11	56137320	Missense_Mutation	SNP	C	C3L-02365_TP	43821	56137320	78949302	235	9711											
OR5T3	0	.	GRCh38	chr11	56252203	56252203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacaaggatacaattgaatgGactccactttcacaggctat	15	10	7	9	0	1	1	1	1	0	0	2	3	2	3	1	3	2	1	1	3	6	4	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.4G>T	p.Asp2Tyr	p.D2Y	ENST00000303059	1/1	60	52	8	93	93	0	strelka-varscan-mutect	OR5T3,missense_variant,p.Asp2Tyr,ENST00000303059,NM_001004747.1;	T	ENST00000303059	Transcript	missense_variant	4/1023	4/1023	2/340	D/Y	Gac/Tac		1		1	OR5T3	HGNC	HGNC:15297	protein_coding	YES	CCDS31524.1	ENSP00000305403	Q8NGG3		UPI0000061E96	NM_001004747.1	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	34	56252203	56252203	G	T	1	0	0	0	0	1	0	0	0	11251	1188	41	2		2	OR5T3	11	56252203	Missense_Mutation	SNP	G	C3L-02365_TP	114883	56252203	78834419	236	9712											
SSRP1	0	.	GRCh38	chr11	57333524	57333524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgagttttgaagaaatcaGagagtttctcaaactcctgt	13	13	9	6	0	2	4	2	2	1	2	4	5	3	4	1	0	1	2	1	0	3	3			C3L-02365_TP	C3L-02365_NB	G	G																c.257C>G	p.Ser86Cys	p.S86C	ENST00000278412	4/17	247	197	50	247	247	0	strelka-varscan-mutect	SSRP1,missense_variant,p.Ser86Cys,ENST00000278412,NM_003146.2;SSRP1,5_prime_UTR_variant,,ENST00000526696,;SSRP1,5_prime_UTR_variant,,ENST00000529002,;P2RX3,upstream_gene_variant,,ENST00000263314,NM_002559.3;P2RX3,upstream_gene_variant,,ENST00000616487,;SSRP1,upstream_gene_variant,,ENST00000635721,;P2RX3,upstream_gene_variant,,ENST00000533436,;SSRP1,non_coding_transcript_exon_variant,,ENST00000293880,;	C	ENST00000278412	Transcript	missense_variant	524/2819	257/2130	86/709	S/C	tCt/tGt	COSM928579	1		-1	SSRP1	HGNC	HGNC:11327	protein_coding	YES	CCDS7952.1	ENSP00000278412	Q08945	A0A024R4Z6	UPI000013601D	NM_003146.2	tolerated(0.06)		4/17		Pfam_domain:PF03531,Gene3D:2.30.29.30											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	34	57333524	57333524	G	C	1	0	0	0	0	1	0	0	0	15571	942	33	4		4	SSRP1	11	57333524	Missense_Mutation	SNP	G	C3L-02365_TP	1081321	57333524	77753098	237	9713											
OR10Q1	0	.	GRCh38	chr11	58228002	58228002	+	Missense_Mutation	SNP	G	G	T																															cctaaggctgtaaagcaaagGgttgagtaagggggtgacaa																								novel		C3L-02365_TP	C3L-02365_NB	G	G																c.874C>A	p.Pro292Thr	p.P292T	ENST00000316770	1/1	248	218	30	238	238	0	strelka-varscan-mutect	OR10Q1,missense_variant,p.Pro292Thr,ENST00000316770,NM_001004471.2;	T	ENST00000316770	Transcript	missense_variant	917/1037	874/960	292/319	P/T	Cct/Act		1		-1	OR10Q1	HGNC	HGNC:15134	protein_coding	YES	CCDS31547.1	ENSP00000314324	Q8NGQ4		UPI0000041C4C	NM_001004471.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF253,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	34	58228002	58228002	G	T	1	0	0	0	0	1	0	0	0	10993	1232	43	2		2	OR10Q1	11	58228002	Missense_Mutation	SNP	G	C3L-02365_TP	894478	58228002	76858620	238	9714	224	2									
OR10Q1	0	.	GRCh38	chr11	58228003	58228003	+	Missense_Mutation	SNP	G	G	T																															ctaaggctgtaaagcaaaggGttgagtaagggggtgacaaa																								rs764852577		C3L-02365_TP	C3L-02365_NB	G	G																c.873C>A	p.Asn291Lys	p.N291K	ENST00000316770	1/1	248	217	31	236	236	0	strelka-varscan-mutect	OR10Q1,missense_variant,p.Asn291Lys,ENST00000316770,NM_001004471.2;	T	ENST00000316770	Transcript	missense_variant	916/1037	873/960	291/319	N/K	aaC/aaA	rs764852577	1		-1	OR10Q1	HGNC	HGNC:15134	protein_coding	YES	CCDS31547.1	ENSP00000314324	Q8NGQ4		UPI0000041C4C	NM_001004471.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF253,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs764852577	.												T	3	4	34	58228003	58228003	G	T	1	0	0	0	0	1	0	0	0	10993	1252	44	2		2	OR10Q1	11	58228003	Missense_Mutation	SNP	G	C3L-02365_TP	1	58228003	76858619	239	9715	224	2									
OR5B21	0	.	GRCh38	chr11	58507830	58507830	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgagctgcacatccatcGtaggagatggccttgtcccc	9	9	10	13	1	0	2	0	1	0	1	3	3	2	2	4	2	3	3	4	2	2	2	rs146345059		C3L-02365_TP	C3L-02365_NB	G	G																c.276C>A	p.Tyr92Ter	p.Y92*	ENST00000360374	1/1	259	174	85	238	238	0	strelka-varscan-mutect	OR5B21,stop_gained,p.Tyr92Ter,ENST00000360374,NM_001005218.1;RP11-655C2.3,upstream_gene_variant,,ENST00000531715,;RP11-655C2.3,upstream_gene_variant,,ENST00000528978,;RP11-655C2.3,upstream_gene_variant,,ENST00000527054,;	T	ENST00000360374	Transcript	stop_gained	276/931	276/930	92/309	Y/*	taC/taA	rs146345059,COSM1561330	1		-1	OR5B21	HGNC	HGNC:19616	protein_coding	YES	CCDS31552.1	ENSP00000353537	A6NL26		UPI000015FCAA	NM_001005218.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF329,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245											0,1						HIGH		SNV			0,1	1										PASS		rs146345059	.												T	4	4	34	58507830	58507830	G	T	1	0	0	0	0	0	1	0	0	11222	1140	40	1		1	OR5B21	11	58507830	Nonsense_Mutation	SNP	G	C3L-02365_TP	279827	58507830	76578792	240	9716											
KRTAP5-11	0	.	GRCh38	chr11	71582805	71582805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcccccacagccagaGccacagcctccagaacagcc	12	1	7	21	0	0	2	0	0	0	2	1	2	1	2	8	0	6	0	8	0	1	0	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.33C>T	p.=	p.G11G	ENST00000398530	1/1	313	262	51	245	245	0	strelka-varscan-mutect	KRTAP5-11,synonymous_variant,p.=,ENST00000398530,NM_001005405.2;KRTAP5-11,synonymous_variant,p.=,ENST00000617152,;KRTAP5-11,synonymous_variant,p.=,ENST00000616086,;KRTAP5-11,intron_variant,,ENST00000526239,;KRTAP5-14P,upstream_gene_variant,,ENST00000502328,;	A	ENST00000398530	Transcript	synonymous_variant	71/1021	33/471	11/156	G	ggC/ggT		1		-1	KRTAP5-11	HGNC	HGNC:23606	protein_coding	YES	CCDS41685.1	ENSP00000381541	Q6L8G4		UPI0000376063	NM_001005405.2			1/1		Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		.	.												A	2	1	34	71582805	71582805	G	A	1	0	0	0	0	0	0	0	1	8455	958	34	3		3	KRTAP5-11	11	71582805	Silent	SNP	G	C3L-02365_TP	13074975	71582805	63503817	241	9717											
FOLR1	0	.	GRCh38	chr11	72196037	72196037	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggccgctgcatccagAtgtggttcgacccagcccag	7	7	14	13	2	0	1	0	0	0	1	2	3	1	2	4	3	2	3	4	3	0	1	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.634A>T	p.Met212Leu	p.M212L	ENST00000393679	5/5	597	508	89	467	466	1	strelka-varscan-mutect	FOLR1,missense_variant,p.Met212Leu,ENST00000393679,;FOLR1,missense_variant,p.Met212Leu,ENST00000312293,NM_016725.2;FOLR1,missense_variant,p.Met212Leu,ENST00000393681,NM_016724.2;FOLR1,missense_variant,p.Met212Leu,ENST00000393676,NM_000802.3,NM_016729.2;RP11-807H22.7,intron_variant,,ENST00000378140,;	T	ENST00000393679	Transcript	missense_variant	1070/1331	634/774	212/257	M/L	Atg/Ttg		1		1	FOLR1	HGNC	HGNC:3791	protein_coding	YES	CCDS8211.1	ENSP00000377284	P15328	A0A024R5H1	UPI0000000C4C		tolerated(0.24)		5/5		hmmpanther:PTHR10517:SF15,hmmpanther:PTHR10517																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	72196037	72196037	A	T	1	0	0	0	0	1	0	0	0	5841	333	12	4		4	FOLR1	11	72196037	Missense_Mutation	SNP	A	C3L-02365_TP	613232	72196037	62890585	242	9718											
INPPL1	0	.	GRCh38	chr11	72237227	72237227	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgaaggggtcccgcacCagctgctgcccccggagcca	6	6	12	17	2	0	1	0	1	0	0	2	2	2	2	6	3	4	3	6	3	1	1			C3L-02365_TP	C3L-02365_NB	C	C																c.2983C>T	p.Gln995Ter	p.Q995*	ENST00000298229	26/28	256	174	82	186	186	0	strelka-varscan-mutect	INPPL1,stop_gained,p.Gln995Ter,ENST00000298229,NM_001567.3;INPPL1,stop_gained,p.Gln753Ter,ENST00000538751,;INPPL1,stop_gained,p.Gln929Ter,ENST00000541756,;INPPL1,stop_gained,p.Gln8Ter,ENST00000541752,;PHOX2A,downstream_gene_variant,,ENST00000298231,NM_005169.3;PHOX2A,downstream_gene_variant,,ENST00000546310,;INPPL1,upstream_gene_variant,,ENST00000320683,;PHOX2A,downstream_gene_variant,,ENST00000544057,;INPPL1,intron_variant,,ENST00000535985,;INPPL1,downstream_gene_variant,,ENST00000541303,;INPPL1,downstream_gene_variant,,ENST00000545355,;INPPL1,downstream_gene_variant,,ENST00000544806,;INPPL1,downstream_gene_variant,,ENST00000537755,;	T	ENST00000298229	Transcript	stop_gained	3187/4733	2983/3777	995/1258	Q/*	Cag/Tag	COSM4937040	1		1	INPPL1	HGNC	HGNC:6080	protein_coding	YES	CCDS8213.1	ENSP00000298229	O15357		UPI000013E4AF	NM_001567.3			26/28		hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF15											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	34	72237227	72237227	C	T	1	0	0	0	0	0	1	0	0	7664	595	21	3		3	INPPL1	11	72237227	Nonsense_Mutation	SNP	C	C3L-02365_TP	41190	72237227	62849395	243	9719											
TENM4	0	.	GRCh38	chr11	78890004	78890004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagcggggaggtgcctccagGcttgaagaggaagtgcctgc	8	6	18	9	1	0	2	0	1	0	1	1	5	1	4	3	5	4	1	3	5	2	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.865C>A	p.Pro289Thr	p.P289T	ENST00000278550	9/34	70	49	21	56	56	0	strelka-varscan-mutect	TENM4,missense_variant,p.Pro289Thr,ENST00000278550,NM_001098816.2;TENM4,missense_variant,p.Pro134Thr,ENST00000533074,;TENM4,non_coding_transcript_exon_variant,,ENST00000533013,;	T	ENST00000278550	Transcript	missense_variant	1328/14000	865/8310	289/2769	P/T	Cct/Act		1		-1	TENM4	HGNC	HGNC:29945	protein_coding	YES	CCDS44688.1	ENSP00000278550	Q6N022		UPI0000DD8112	NM_001098816.2	tolerated_low_confidence(1)		9/34		Pfam_domain:PF06484,PROSITE_profiles:PS51361,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF9																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	34	78890004	78890004	G	T	1	0	0	0	0	1	0	0	0	16174	1203	42	2		2	TENM4	11	78890004	Missense_Mutation	SNP	G	C3L-02365_TP	6652777	78890004	56196618	244	9720											
PRSS23	0	.	GRCh38	chr11	86808558	86808558	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgagacctatgacttgctCtaccagcaatgcgatgccca	11	8	9	13	2	1	2	0	1	1	1	1	5	1	2	3	0	5	2	3	0	3	3	rs748802260		C3L-02365_TP	C3L-02365_NB	C	C																c.915C>G	p.=	p.L305L	ENST00000280258	2/2	397	318	79	324	324	0	strelka-varscan-mutect	PRSS23,synonymous_variant,p.=,ENST00000280258,NM_001293180.1,NM_001293178.1,NM_007173.5,NM_001293179.1;PRSS23,intron_variant,,ENST00000533902,;PRSS23,downstream_gene_variant,,ENST00000527521,;PRSS23,intron_variant,,ENST00000531475,;PRSS23,intron_variant,,ENST00000533880,;PRSS23,intron_variant,,ENST00000532234,;	G	ENST00000280258	Transcript	synonymous_variant	1340/4015	915/1152	305/383	L	ctC/ctG	rs748802260	1		1	PRSS23	HGNC	HGNC:14370	protein_coding	YES	CCDS8278.1	ENSP00000280258	O95084		UPI0000048EBC	NM_001293180.1,NM_001293178.1,NM_007173.5,NM_001293179.1			2/2		Gene3D:2.40.10.10,hmmpanther:PTHR15462,hmmpanther:PTHR15462:SF10,Superfamily_domains:SSF50494																	LOW	1	SNV	1			1										PASS		rs748802260	.												G	2	3	34	86808558	86808558	C	G	1	0	0	0	0	0	0	0	1	12767	900	32	4		4	PRSS23	11	86808558	Silent	SNP	C	C3L-02365_TP	7918554	86808558	48278064	245	9721											
FAT3	0	.	GRCh38	chr11	92800126	92800126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatcaatagatagtggcttCccatcactgagcagtgaggt	12	10	11	8	0	2	4	2	2	0	2	3	4	3	4	1	2	1	2	1	2	3	3	rs760836405		C3L-02365_TP	C3L-02365_NB	C	C																c.6663C>A	p.Phe2221Leu	p.F2221L	ENST00000525166	9/27	155	100	55	150	150	0	strelka-varscan-mutect	FAT3,missense_variant,p.Phe2371Leu,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Phe2221Leu,ENST00000525166,;	A	ENST00000525166	Transcript	missense_variant	6685/18699	6663/13320	2221/4439	F/L	ttC/ttA	rs760836405	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		tolerated(0.66)		9/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		rs760836405	.												A	3	1	34	92800126	92800126	C	A	1	0	0	0	0	1	0	0	0	5551	854	30	2		2	FAT3	11	92800126	Missense_Mutation	SNP	C	C3L-02365_TP	5991568	92800126	42286496	246	9722											
MTNR1B	0	.	GRCh38	chr11	92969836	92969836	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggacccctcgacctccCtgggtggctccagcgctgtc	4	8	11	18	2	0	0	0	0	0	0	5	2	3	1	6	3	1	2	6	3	0	0	rs779893016		C3L-02365_TP	C3L-02365_NB	C	C																c.111C>A	p.=	p.P37P	ENST00000257068	1/2	135	88	47	82	82	0	strelka-varscan-mutect	MTNR1B,missense_variant,p.Leu19Met,ENST00000528076,;MTNR1B,synonymous_variant,p.=,ENST00000257068,NM_005959.3;RP11-676F20.1,downstream_gene_variant,,ENST00000532770,;MTNR1B,synonymous_variant,p.=,ENST00000532482,;	A	ENST00000257068	Transcript	synonymous_variant	117/1565	111/1089	37/362	P	ccC/ccA	rs779893016	1		1	MTNR1B	HGNC	HGNC:7464	protein_coding	YES	CCDS8290.1	ENSP00000257068	P49286		UPI0000050408	NM_005959.3			1/2		hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF262,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01149																	LOW	1	SNV	1			1										PASS		rs779893016	.												A	2	1	34	92969836	92969836	C	A	1	0	0	0	0	0	0	0	1	9939	668	24	2		2	MTNR1B	11	92969836	Silent	SNP	C	C3L-02365_TP	169710	92969836	42116786	247	9723											
HEPHL1	0	.	GRCh38	chr11	94064373	94064373	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gacacggaatgatgtggatcGagagtttgttataatgttta	12	14	12	3	2	0	2	0	1	0	1	1	6	0	4	0	2	0	3	0	2	4	5	rs73551201		C3L-02365_TP	C3L-02365_NB	G	G																c.671G>C	p.Arg224Pro	p.R224P	ENST00000315765	4/20	137	114	23	130	130	0	strelka-varscan-mutect	HEPHL1,missense_variant,p.Arg224Pro,ENST00000315765,NM_001098672.1;	C	ENST00000315765	Transcript	missense_variant	679/5345	671/3480	224/1159	R/P	cGa/cCa	rs73551201	1		1	HEPHL1	HGNC	HGNC:30477	protein_coding	YES	CCDS44710.1	ENSP00000313699	Q6MZM0		UPI0000237563	NM_001098672.1	tolerated(0.11)		4/20		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF655,Superfamily_domains:SSF49503																	MODERATE	1	SNV	5			1										PASS		rs73551201	.												C	3	2	34	94064373	94064373	G	C	1	0	0	0	0	1	0	0	0	6939	1058	37	4		4	HEPHL1	11	94064373	Missense_Mutation	SNP	G	C3L-02365_TP	1094537	94064373	41022249	248	9724											
CNTN5	0	.	GRCh38	chr11	99819725	99819725	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagaattattattccccCatcaatctttatcattcctc	10	16	2	13	0	4	1	3	0	1	1	7	1	6	1	3	0	0	1	3	0	5	6	rs753301950		C3L-02365_TP	C3L-02365_NB	C	C																c.237C>A	p.=	p.P79P	ENST00000524871	4/25	436	343	93	439	439	0	strelka-varscan-mutect	CNTN5,synonymous_variant,p.=,ENST00000524871,NM_014361.3;CNTN5,synonymous_variant,p.=,ENST00000279463,;CNTN5,synonymous_variant,p.=,ENST00000527185,NM_001243271.1;CNTN5,synonymous_variant,p.=,ENST00000528682,NM_001243270.1;CNTN5,intron_variant,,ENST00000418526,NM_175566.2;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	A	ENST00000524871	Transcript	synonymous_variant	527/6258	237/3303	79/1100	P	ccC/ccA	rs753301950	1		1	CNTN5	HGNC	HGNC:2175	protein_coding	YES	CCDS53696.1	ENSP00000435637	O94779		UPI000006DAB0	NM_014361.3			4/25		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51																	LOW	1	SNV	1			1										PASS		rs753301950	.												A	2	1	34	99819725	99819725	C	A	1	0	0	0	0	0	0	0	1	3425	581	21	2		2	CNTN5	11	99819725	Silent	SNP	C	C3L-02365_TP	5755352	99819725	35266897	249	9725											
MMP8	0	.	GRCh38	chr11	102721643	102721643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagcaatgttgatatctGcctctccctgtgagatcctg	11	12	8	10	0	2	2	0	2	2	1	4	3	3	2	3	0	2	2	3	0	4	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.467C>A	p.Ala156Glu	p.A156E	ENST00000236826	3/10	212	129	83	170	169	1	strelka-varscan-mutect	MMP8,missense_variant,p.Ala156Glu,ENST00000236826,NM_002424.2,NM_001304441.1,NM_001304442.1;MMP8,missense_variant,p.Ala132Glu,ENST00000438475,;MMP8,3_prime_UTR_variant,,ENST00000528662,;MMP8,3_prime_UTR_variant,,ENST00000533258,;MMP8,downstream_gene_variant,,ENST00000532799,;MMP8,downstream_gene_variant,,ENST00000531168,;	T	ENST00000236826	Transcript	missense_variant	566/3056	467/1404	156/467	A/E	gCa/gAa		1		-1	MMP8	HGNC	HGNC:7175	protein_coding	YES	CCDS8320.1	ENSP00000236826	P22894		UPI00000422BB	NM_002424.2,NM_001304441.1,NM_001304442.1	deleterious(0)		3/10		Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,Prints_domain:PR00138,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF137,SMART_domains:SM00235,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	102721643	102721643	G	T	1	0	0	0	0	1	0	0	0	9631	1319	46	2		2	MMP8	11	102721643	Missense_Mutation	SNP	G	C3L-02365_TP	2901918	102721643	32364979	250	9726											
DDI1	0	.	GRCh38	chr11	104037883	104037883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctggtcatcggcaccaCtggcacgcagacttattttc	7	12	10	12	2	1	1	1	0	0	1	3	1	1	1	1	3	1	4	1	3	1	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1061C>A	p.Thr354Asn	p.T354N	ENST00000302259	1/1	271	235	36	249	249	0	strelka-varscan-mutect	DDI1,missense_variant,p.Thr354Asn,ENST00000302259,NM_001001711.2;PDGFD,intron_variant,,ENST00000302251,NM_033135.3;PDGFD,intron_variant,,ENST00000393158,NM_025208.4;PDGFD,upstream_gene_variant,,ENST00000529268,;	A	ENST00000302259	Transcript	missense_variant	1304/2609	1061/1191	354/396	T/N	aCt/aAt		1		1	DDI1	HGNC	HGNC:18961	protein_coding	YES	CCDS31660.1	ENSP00000302805	Q8WTU0		UPI0000047AEA	NM_001001711.2	deleterious(0.03)		1/1		hmmpanther:PTHR12917,hmmpanther:PTHR12917:SF15																	MODERATE		SNV				1										PASS		.	.												A	3	1	34	104037883	104037883	C	A	1	0	0	0	0	1	0	0	0	4131	565	20	2		2	DDI1	11	104037883	Missense_Mutation	SNP	C	C3L-02365_TP	1316240	104037883	31048739	251	9727											
ELMOD1	0	.	GRCh38	chr11	107656066	107656066	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactttcagcaaacattcTgtaagtatcctgttgtataa	12	15	5	9	0	3	0	2	0	1	0	4	0	4	0	1	0	2	5	1	0	5	7	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.832T>A	p.Cys278Ser	p.C278S	ENST00000265840	11/12	179	140	39	162	162	0	strelka-varscan-mutect	ELMOD1,missense_variant,p.Cys278Ser,ENST00000265840,NM_018712.3;ELMOD1,missense_variant,p.Cys270Ser,ENST00000443271,NM_001130037.1;ELMOD1,missense_variant,p.Cys272Ser,ENST00000531234,NM_001308018.1;ELMOD1,downstream_gene_variant,,ENST00000534236,;	A	ENST00000265840	Transcript	missense_variant,splice_region_variant	1097/2852	832/1005	278/334	C/S	Tgc/Agc		1		1	ELMOD1	HGNC	HGNC:25334	protein_coding	YES	CCDS44723.1	ENSP00000265840	Q8N336		UPI000006DF30	NM_018712.3	tolerated(0.1)		11/12		PROSITE_profiles:PS51335,hmmpanther:PTHR12771:SF18,hmmpanther:PTHR12771,Pfam_domain:PF04727																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	107656066	107656066	T	A	1	0	0	0	0	1	0	0	0	4902	1594	55	4		4	ELMOD1	11	107656066	Missense_Mutation	SNP	T	C3L-02365_TP	3618183	107656066	27430556	252	9728											
SCN4B	0	.	GRCh38	chr11	118145068	118145068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatacttacaatcttgaatgCgtcactgctgttgtaggtcc	10	14	8	9	1	2	1	1	1	1	0	3	1	3	1	1	1	4	3	1	1	6	5			C3L-02365_TP	C3L-02365_NB	C	C																c.223G>A	p.Ala75Thr	p.A75T	ENST00000324727	2/5	410	360	50	352	352	0	strelka-varscan-mutect	SCN4B,missense_variant,p.Ala75Thr,ENST00000324727,NM_001142349.1,NM_174934.3;SCN4B,intron_variant,,ENST00000529878,NM_001142348.1;SCN4B,upstream_gene_variant,,ENST00000423160,;SCN4B,non_coding_transcript_exon_variant,,ENST00000415030,;SCN4B,non_coding_transcript_exon_variant,,ENST00000532138,;SCN4B,upstream_gene_variant,,ENST00000531550,;	T	ENST00000324727	Transcript	missense_variant	370/4484	223/687	75/228	A/T	Gca/Aca	COSM2105071	1		-1	SCN4B	HGNC	HGNC:10592	protein_coding	YES	CCDS8389.1	ENSP00000322460	Q8IWT1	B0YJ93	UPI00000532AE	NM_001142349.1,NM_174934.3	tolerated(1)		2/5		PROSITE_profiles:PS50835,hmmpanther:PTHR13869:SF14,hmmpanther:PTHR13869,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		rs1265062815	.												T	3	4	34	118145068	118145068	C	T	1	0	0	0	0	1	0	0	0	14190	768	27	1		1	SCN4B	11	118145068	Missense_Mutation	SNP	C	C3L-02365_TP	10489002	118145068	16941554	253	9729											
CCDC84	0	.	GRCh38	chr11	119010786	119010786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaaatccatggtgaaaGgtttggattcctatgaagaa	15	11	10	5	0	1	4	1	2	0	2	3	5	3	5	2	3	0	1	2	3	6	3	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.406G>A	p.Gly136Ser	p.G136S	ENST00000334418	4/11	220	193	27	199	199	0	strelka-varscan-mutect	CCDC84,missense_variant,p.Gly136Ser,ENST00000334418,NM_198489.2;RPS25,downstream_gene_variant,,ENST00000527673,NM_001028.2;CCDC84,non_coding_transcript_exon_variant,,ENST00000580556,;CCDC84,missense_variant,p.Gly136Ser,ENST00000532132,;CCDC84,3_prime_UTR_variant,,ENST00000526463,;CCDC84,non_coding_transcript_exon_variant,,ENST00000528088,;CCDC84,non_coding_transcript_exon_variant,,ENST00000524670,;CCDC84,upstream_gene_variant,,ENST00000527356,;RPS25,downstream_gene_variant,,ENST00000527853,;CCDC84,upstream_gene_variant,,ENST00000533787,;RPS25,downstream_gene_variant,,ENST00000527791,;CCDC84,upstream_gene_variant,,ENST00000583842,;RPS25,downstream_gene_variant,,ENST00000532567,;RP11-110I1.5,upstream_gene_variant,,ENST00000527269,;	A	ENST00000334418	Transcript	missense_variant	462/1202	406/999	136/332	G/S	Ggt/Agt		1		1	CCDC84	HGNC	HGNC:30460	protein_coding	YES	CCDS8405.1	ENSP00000334767	Q86UT8		UPI0000192104	NM_198489.2	tolerated(0.19)		4/11		hmmpanther:PTHR31198,Pfam_domain:PF14968																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	119010786	119010786	G	A	1	0	0	0	0	1	0	0	0	2556	1000	35	3		3	CCDC84	11	119010786	Missense_Mutation	SNP	G	C3L-02365_TP	865718	119010786	16075836	254	9730											
TMEM218	0	.	GRCh38	chr11	125102176	125102176	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcacacacagcagcagCactgccacccagagcagggc	13	1	11	16	0	0	1	0	0	0	1	0	1	0	1	2	1	7	6	2	1	0	0	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.66G>T	p.=	p.V22V	ENST00000531909	3/5	146	119	27	89	88	1	strelka-varscan-mutect	TMEM218,synonymous_variant,p.=,ENST00000531909,NM_001080546.2,NM_001258238.1,NM_001258246.1,NM_001258242.1,NM_001258244.1,NM_001258247.1;TMEM218,synonymous_variant,p.=,ENST00000528724,;TMEM218,synonymous_variant,p.=,ENST00000532407,;TMEM218,synonymous_variant,p.=,ENST00000279968,;TMEM218,synonymous_variant,p.=,ENST00000526175,NM_001258240.1;TMEM218,synonymous_variant,p.=,ENST00000532156,;TMEM218,synonymous_variant,p.=,ENST00000524373,;TMEM218,synonymous_variant,p.=,ENST00000533273,;TMEM218,synonymous_variant,p.=,ENST00000529583,NM_001258245.1;TMEM218,synonymous_variant,p.=,ENST00000527766,;TMEM218,synonymous_variant,p.=,ENST00000529609,;TMEM218,synonymous_variant,p.=,ENST00000527271,NM_001258241.1;TMEM218,synonymous_variant,p.=,ENST00000529530,;TMEM218,intron_variant,,ENST00000531262,;TMEM218,non_coding_transcript_exon_variant,,ENST00000527257,;TMEM218,intron_variant,,ENST00000531851,;TMEM218,downstream_gene_variant,,ENST00000532717,;	A	ENST00000531909	Transcript	synonymous_variant	485/1828	66/348	22/115	V	gtG/gtT		1		-1	TMEM218	HGNC	HGNC:27344	protein_coding	YES	CCDS31715.1	ENSP00000436596	A2RU14		UPI00001617A4	NM_001080546.2,NM_001258238.1,NM_001258246.1,NM_001258242.1,NM_001258244.1,NM_001258247.1			3/5		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR31622																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	125102176	125102176	C	A	1	0	0	0	0	0	0	0	1	16582	697	25	2		2	TMEM218	11	125102176	Silent	SNP	C	C3L-02365_TP	6091390	125102176	9984446	255	9731											
CDON	0	.	GRCh38	chr11	125961028	125961028	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cattgtcttctcagcacagcCctcggggacaggtggcaaaa	10	8	11	12	1	2	0	1	0	2	0	4	1	2	1	1	4	2	2	1	4	2	2	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.3778G>T	p.Gly1260Cys	p.G1260C	ENST00000392693	20/20	443	362	81	377	377	0	strelka-varscan-mutect	CDON,missense_variant,p.Gly1260Cys,ENST00000392693,NM_001243597.1;CDON,missense_variant,p.Gly614Cys,ENST00000531738,;CDON,missense_variant,p.Gly1237Cys,ENST00000263577,NM_016952.4;	A	ENST00000392693	Transcript	missense_variant	3906/9138	3778/3864	1260/1287	G/C	Ggc/Tgc		1		-1	CDON	HGNC	HGNC:17104	protein_coding	YES	CCDS58192.1	ENSP00000376458	Q4KMG0		UPI0000E0013A	NM_001243597.1	deleterious(0)		20/20		hmmpanther:PTHR10489:SF12,hmmpanther:PTHR10489																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	125961028	125961028	C	A	1	0	0	0	0	1	0	0	0	2874	623	22	2		2	CDON	11	125961028	Missense_Mutation	SNP	C	C3L-02365_TP	858852	125961028	9125594	256	9732											
CCDC77	0	.	GRCh38	chr12	430711	430711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtaggtgaatgtgagcaGagtgaatcttcagctttcaa	11	12	12	6	0	3	4	2	3	1	1	3	4	3	4	0	1	2	4	0	1	4	3	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.558G>T	p.Gln186His	p.Q186H	ENST00000239830	7/13	233	184	49	267	267	0	strelka-varscan-mutect	CCDC77,missense_variant,p.Gln186His,ENST00000239830,NM_032358.3;CCDC77,missense_variant,p.Gln154His,ENST00000422000,NM_001130147.1;CCDC77,missense_variant,p.Gln154His,ENST00000412006,NM_001130146.1;CCDC77,missense_variant,p.Gln154His,ENST00000540180,NM_001130148.1;CCDC77,missense_variant,p.Gln154His,ENST00000543504,;CCDC77,non_coding_transcript_exon_variant,,ENST00000540344,;CCDC77,upstream_gene_variant,,ENST00000540118,;	T	ENST00000239830	Transcript	missense_variant	737/2371	558/1467	186/488	Q/H	caG/caT		1		1	CCDC77	HGNC	HGNC:28203	protein_coding	YES	CCDS8503.1	ENSP00000239830	Q9BR77		UPI0000070D97	NM_032358.3	tolerated(0.07)		7/13		hmmpanther:PTHR22091:SF1,hmmpanther:PTHR22091																	MODERATE	1	SNV	2			1										PASS		rs1308875906	.												T	3	4	34	430711	430711	G	T	1	0	0	0	0	1	0	0	0	2549	933	33	2		2	CCDC77	12	430711	Missense_Mutation	SNP	G	C3L-02365_TP		430711	132844598	257	9733											
FGF23	0	.	GRCh38	chr12	4370389	4370389	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccttccgggcccgttcccCcagcgtgcgtgttcactcga	4	9	11	17	5	1	0	1	0	0	0	4	1	3	0	5	1	3	2	5	1	0	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.710G>C	p.Gly237Ala	p.G237A	ENST00000237837	3/3	147	119	28	88	88	0	strelka-varscan-mutect	FGF23,missense_variant,p.Gly237Ala,ENST00000237837,NM_020638.2;	G	ENST00000237837	Transcript	missense_variant	856/3018	710/756	237/251	G/A	gGg/gCg		1		-1	FGF23	HGNC	HGNC:3680	protein_coding	YES	CCDS8526.1	ENSP00000237837	Q9GZV9		UPI000003ED58	NM_020638.2	tolerated_low_confidence(0.21)		3/3		hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF69																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	4370389	4370389	C	G	1	0	0	0	0	1	0	0	0	5716	623	22	4		4	FGF23	12	4370389	Missense_Mutation	SNP	C	C3L-02365_TP	3939678	4370389	128904920	258	9734											
GSG1	0	.	GRCh38	chr12	13087241	13087241	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacttgtgaatacatcatGtgggccaccatccccaggag	12	8	10	11	0	1	2	1	1	0	1	2	3	2	3	4	2	1	0	4	2	3	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.588C>A	p.His196Gln	p.H196Q	ENST00000432710	5/6	146	125	21	157	157	0	strelka-varscan-mutect	GSG1,missense_variant,p.His183Gln,ENST00000337630,NM_153823.3;GSG1,missense_variant,p.His225Asn,ENST00000396302,NM_031289.3;GSG1,missense_variant,p.His261Asn,ENST00000351606,NM_001080554.2;GSG1,missense_variant,p.His196Gln,ENST00000432710,NM_001206842.1,NM_001080555.2;GSG1,missense_variant,p.His132Gln,ENST00000457134,NM_001206845.1;GSG1,missense_variant,p.His155Gln,ENST00000537302,NM_001206843.1;FAM234B,intron_variant,,ENST00000537625,;FAM234B,downstream_gene_variant,,ENST00000197268,NM_020853.1;GSG1,downstream_gene_variant,,ENST00000545401,;GSG1,downstream_gene_variant,,ENST00000542415,;GSG1,downstream_gene_variant,,ENST00000545699,;FAM234B,downstream_gene_variant,,ENST00000416494,;	T	ENST00000432710	Transcript	missense_variant	721/1231	588/1020	196/339	H/Q	caC/caA		1		-1	GSG1	HGNC	HGNC:19716	protein_coding	YES	CCDS55808.1	ENSP00000405032	Q2KHT4		UPI00001413B2	NM_001206842.1,NM_001080555.2	deleterious(0)		5/6		Transmembrane_helices:TMhelix,hmmpanther:PTHR10671:SF43,hmmpanther:PTHR10671																	MODERATE	1	SNV	1			1										PASS		rs1220259865	.												T	3	4	34	13087241	13087241	G	T	1	0	0	0	0	1	0	0	0	6703	1377	48	2		2	GSG1	12	13087241	Missense_Mutation	SNP	G	C3L-02365_TP	8716852	13087241	120188068	259	9735											
PPFIBP1	0	.	GRCh38	chr12	27691765	27691765	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagccaaagaaacttgcctTtagcaattttgggaatttga	15	12	8	6	0	0	2	0	1	0	1	0	3	0	3	2	1	4	1	2	1	6	6	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.2720T>G	p.Phe907Cys	p.F907C	ENST00000318304	27/29	103	77	26	112	112	0	strelka-varscan-mutect	PPFIBP1,missense_variant,p.Phe907Cys,ENST00000318304,NM_177444.2;PPFIBP1,missense_variant,p.Phe901Cys,ENST00000228425,NM_003622.3;PPFIBP1,missense_variant,p.Phe754Cys,ENST00000537927,NM_001198915.1;PPFIBP1,missense_variant,p.Phe876Cys,ENST00000542629,NM_001198916.1;PPFIBP1,missense_variant,p.Phe738Cys,ENST00000540114,;PPFIBP1,missense_variant,p.Phe138Cys,ENST00000539326,;REP15,upstream_gene_variant,,ENST00000310791,NM_001029874.1;RP11-1060J15.4,downstream_gene_variant,,ENST00000536317,;RP11-1060J15.4,downstream_gene_variant,,ENST00000536922,;PPFIBP1,downstream_gene_variant,,ENST00000540256,;	G	ENST00000318304	Transcript	missense_variant	3003/6001	2720/3036	907/1011	F/C	tTt/tGt		1		1	PPFIBP1	HGNC	HGNC:9249	protein_coding	YES	CCDS55812.1	ENSP00000314724	Q86W92		UPI00004565E6	NM_177444.2	deleterious(0)		27/29		hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	27691765	27691765	T	G	1	0	0	0	0	1	0	0	0	12422	1841	64	5		5	PPFIBP1	12	27691765	Missense_Mutation	SNP	T	C3L-02365_TP	14604524	27691765	105583544	260	9736											
SYT10	0	.	GRCh38	chr12	33426446	33426446	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtgagacaaccaacaaGgccagtccacaaaagctgac	19	3	8	11	0	0	2	0	2	0	1	1	3	1	2	3	1	3	1	3	1	7	0	rs767357670		C3L-02365_TP	C3L-02365_NB	G	G																c.201C>A	p.=	p.A67A	ENST00000228567	2/7	122	98	24	129	127	2	strelka-varscan-mutect	SYT10,synonymous_variant,p.=,ENST00000228567,NM_198992.3;SYT10,upstream_gene_variant,,ENST00000567656,;SYT10,synonymous_variant,p.=,ENST00000539102,;	T	ENST00000228567	Transcript	synonymous_variant	498/4461	201/1572	67/523	A	gcC/gcA	rs767357670	1		-1	SYT10	HGNC	HGNC:19266	protein_coding	YES	CCDS8732.1	ENSP00000228567	Q6XYQ8		UPI0000052B30	NM_198992.3			2/7		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF46,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs767357670	.												T	2	4	34	33426446	33426446	G	T	1	0	0	0	0	0	0	0	1	15860	987	35	2		2	SYT10	12	33426446	Silent	SNP	G	C3L-02365_TP	5734681	33426446	99848863	261	9737											
ALG10	0	.	GRCh38	chr12	34026345	34026346	+	Frame_Shift_Ins	INS	-	-	T																															atcggagtagtcatgaagccINStgtcttcattttcctcaact																								novel		C3L-02365_TP	C3L-02365_NB	-	-																c.853dupT	p.Cys285LeufsTer26	p.C285Lfs*26	ENST00000266483	3/3	239	180	59	351	351	0	sindel-varindel	ALG10,frameshift_variant,p.Cys285LeufsTer26,ENST00000266483,NM_032834.3;ALG10,intron_variant,,ENST00000538927,;RP11-847H18.2,intron_variant,,ENST00000501954,;ALG10,3_prime_UTR_variant,,ENST00000541875,;ALG10,downstream_gene_variant,,ENST00000541178,;	T	ENST00000266483	Transcript	frameshift_variant	1171-1172/3128	852-853/1422	284-285/473	-/X	-/T		1		1	ALG10	HGNC	HGNC:23162	protein_coding	YES	CCDS41769.1	ENSP00000266483	Q5BKT4		UPI000004E870	NM_032834.3			3/3		hmmpanther:PTHR12989,Pfam_domain:PF04922,PIRSF_domain:PIRSF028810																	HIGH	1	insertion	1	1		1										PASS		.	.												T	7	5	34	34026345	34026345	-	T	1	0	1	1	0	0	0	0	0	611	668	24	0		0	ALG10	12	34026345	Frame_Shift_Ins	INS	-	C3L-02365_TP	599899	34026345	99248964	262	9738											
LRRK2	0	.	GRCh38	chr12	40363435	40363435	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttcagtgattccaacatCataacagtggtggtagacac	12	11	9	9	0	2	2	2	1	0	1	3	2	3	2	1	2	2	2	1	2	3	4	rs768811495		C3L-02365_TP	C3L-02365_NB	C	C																c.7062C>G	p.Ile2354Met	p.I2354M	ENST00000298910	48/51	214	172	42	271	271	0	strelka-varscan-mutect	LRRK2,missense_variant,p.Ile2354Met,ENST00000298910,NM_198578.3;LRRK2,missense_variant,p.Ile287Met,ENST00000636518,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	G	ENST00000298910	Transcript	missense_variant	7120/9158	7062/7584	2354/2527	I/M	atC/atG	rs768811495	1		1	LRRK2	HGNC	HGNC:18618	protein_coding	YES	CCDS31774.1	ENSP00000298910	Q5S007		UPI00006C128E	NM_198578.3	deleterious(0)		48/51		hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF486,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		rs768811495	.												G	3	3	34	40363435	40363435	C	G	1	0	0	0	0	1	0	0	0	8939	816	29	4		4	LRRK2	12	40363435	Missense_Mutation	SNP	C	C3L-02365_TP	6337090	40363435	92911874	263	9739											
TMEM117	0	.	GRCh38	chr12	43944273	43944273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggatgacaatgttcttcaGcacaattctctttctcttca	9	16	6	10	0	5	1	2	1	3	0	7	2	5	2	0	1	1	2	0	1	2	5	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.341G>T	p.Ser114Ile	p.S114I	ENST00000266534	3/8	199	164	35	230	230	0	strelka-varscan-mutect	TMEM117,missense_variant,p.Ser114Ile,ENST00000266534,NM_032256.2;TMEM117,missense_variant,p.Ser114Ile,ENST00000551577,NM_001286211.1;TMEM117,intron_variant,,ENST00000550495,NM_001286213.1;TMEM117,missense_variant,p.Ser114Ile,ENST00000546868,;	T	ENST00000266534	Transcript	missense_variant	468/2758	341/1545	114/514	S/I	aGc/aTc		1		1	TMEM117	HGNC	HGNC:25308	protein_coding	YES	CCDS8745.1	ENSP00000266534	Q9H0C3		UPI0000037D18	NM_032256.2	tolerated(0.49)		3/8		Pfam_domain:PF15113,hmmpanther:PTHR31226,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	43944273	43944273	G	T	1	0	0	0	0	1	0	0	0	16475	971	34	2		2	TMEM117	12	43944273	Missense_Mutation	SNP	G	C3L-02365_TP	3580838	43944273	89331036	264	9740											
NCKAP5L	0	.	GRCh38	chr12	49796030	49796030	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccataggggtacgattcTgggaggcaaggactgggggg	8	7	18	8	1	1	0	0	0	1	0	2	3	2	2	1	8	1	2	1	8	3	3	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.1830A>G	p.=	p.P610P	ENST00000335999	8/13	75	59	16	49	49	0	strelka-varscan-mutect	NCKAP5L,synonymous_variant,p.=,ENST00000335999,NM_001037806.3;NCKAP5L,synonymous_variant,p.=,ENST00000433948,;	C	ENST00000335999	Transcript	synonymous_variant	2032/4900	1830/4005	610/1334	P	ccA/ccG		1		-1	NCKAP5L	HGNC	HGNC:29321	protein_coding	YES	CCDS41781.2	ENSP00000337998	Q9HCH0		UPI00006C1298	NM_001037806.3			8/13		hmmpanther:PTHR21740																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	34	49796030	49796030	T	C	1	0	0	0	0	0	0	0	1	10242	1567	55	5		5	NCKAP5L	12	49796030	Silent	SNP	T	C3L-02365_TP	5851757	49796030	83479279	265	9741											
SLC4A8	0	.	GRCh38	chr12	51493728	51493728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaatgccagtactctacGgagttttcctttacatggga	9	14	8	10	1	1	0	0	0	1	0	3	2	3	2	3	2	4	2	3	2	4	7	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.2725G>A	p.Gly909Arg	p.G909R	ENST00000453097	20/25	150	116	34	139	139	0	strelka-varscan-mutect	SLC4A8,missense_variant,p.Gly909Arg,ENST00000453097,NM_001039960.2;SLC4A8,missense_variant,p.Gly856Arg,ENST00000358657,NM_001258401.2;SLC4A8,non_coding_transcript_exon_variant,,ENST00000551071,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000604314,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000319957,;SLC4A8,upstream_gene_variant,,ENST00000548616,;SLC4A8,upstream_gene_variant,,ENST00000546872,;	A	ENST00000453097	Transcript	missense_variant	2942/11824	2725/3282	909/1093	G/R	Gga/Aga		1		1	SLC4A8	HGNC	HGNC:11034	protein_coding	YES	CCDS44890.1	ENSP00000405812	Q2Y0W8		UPI00005E6FB4	NM_001039960.2	deleterious(0)		20/25		Transmembrane_helices:TMhelix,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF37,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	51493728	51493728	G	A	1	0	0	0	0	1	0	0	0	14936	1117	39	1		1	SLC4A8	12	51493728	Missense_Mutation	SNP	G	C3L-02365_TP	1697698	51493728	81781581	266	9742											
KRT79	0	.	GRCh38	chr12	52834121	52834121	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccggggccacagtgggccCcgccaccactgccactgctc	5	5	12	19	2	0	0	0	0	0	0	1	0	0	0	7	3	3	1	7	3	0	0	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.140G>T	p.Gly47Val	p.G47V	ENST00000330553	1/9	218	169	49	229	228	1	strelka-varscan-mutect	KRT79,missense_variant,p.Gly47Val,ENST00000330553,NM_175834.2;KRT78,downstream_gene_variant,,ENST00000359499,NM_001300814.1;KRT78,downstream_gene_variant,,ENST00000304620,NM_173352.3;KRT78,downstream_gene_variant,,ENST00000547920,;KRT79,upstream_gene_variant,,ENST00000546453,;RP11-153F5.3,upstream_gene_variant,,ENST00000550463,;	A	ENST00000330553	Transcript	missense_variant	175/2068	140/1608	47/535	G/V	gGg/gTg		1		-1	KRT79	HGNC	HGNC:28930	protein_coding	YES	CCDS8839.1	ENSP00000328358	Q5XKE5		UPI0000198204	NM_175834.2	deleterious(0.03)		1/9		Pfam_domain:PF16208,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF138,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	52834121	52834121	C	A	1	0	0	0	0	1	0	0	0	8374	623	22	2		2	KRT79	12	52834121	Missense_Mutation	SNP	C	C3L-02365_TP	1340393	52834121	80441188	267	9743											
OS9	0	.	GRCh38	chr12	57715930	57715930	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctctgtcacccttccctAcagcctgaggagtacatggc	8	10	8	15	0	2	1	1	1	1	0	4	2	4	2	4	2	3	1	4	2	2	3	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.750A>G	p.=	p.L250L	ENST00000315970	6/15	92	74	18	85	85	0	strelka-varscan-mutect	OS9,synonymous_variant,p.=,ENST00000315970,NM_006812.3;OS9,synonymous_variant,p.=,ENST00000257966,NM_001261420.1;OS9,synonymous_variant,p.=,ENST00000389142,NM_001017957.2;OS9,synonymous_variant,p.=,ENST00000435406,NM_001261422.1;OS9,synonymous_variant,p.=,ENST00000551035,NM_001261421.1;OS9,synonymous_variant,p.=,ENST00000552285,NM_001017956.2;OS9,synonymous_variant,p.=,ENST00000389146,NM_001017958.2;OS9,synonymous_variant,p.=,ENST00000439210,NM_001261423.1;OS9,intron_variant,,ENST00000413095,;OS9,intron_variant,,ENST00000547079,;OS9,downstream_gene_variant,,ENST00000550372,;RP11-571M6.7,intron_variant,,ENST00000549477,;OS9,3_prime_UTR_variant,,ENST00000552787,;OS9,non_coding_transcript_exon_variant,,ENST00000549307,;OS9,non_coding_transcript_exon_variant,,ENST00000553208,;OS9,non_coding_transcript_exon_variant,,ENST00000550438,;OS9,upstream_gene_variant,,ENST00000546916,;OS9,upstream_gene_variant,,ENST00000550202,;OS9,upstream_gene_variant,,ENST00000550699,;	G	ENST00000315970	Transcript	synonymous_variant	791/2691	750/2004	250/667	L	ctA/ctG		1		1	OS9	HGNC	HGNC:16994	protein_coding	YES	CCDS31843.1	ENSP00000318165	Q13438		UPI0000130EAC	NM_006812.3			6/15		hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF0																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	34	57715930	57715930	A	G	1	0	0	0	0	0	0	0	1	11338	378	14	5		5	OS9	12	57715930	Silent	SNP	A	C3L-02365_TP	4881809	57715930	75559379	268	9744											
LRIG3	0	.	GRCh38	chr12	58874450	58874450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatgatatgtttcaaaaGgatctgagccatacacattt	13	14	7	7	0	2	2	1	2	1	0	2	3	2	3	1	1	2	2	1	1	5	5	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.2819C>T	p.Pro940Leu	p.P940L	ENST00000320743	17/19	181	145	36	164	164	0	strelka-varscan-mutect	LRIG3,missense_variant,p.Pro940Leu,ENST00000320743,NM_153377.4;LRIG3,missense_variant,p.Pro880Leu,ENST00000379141,NM_001136051.2;LRIG3,missense_variant,p.Pro42Leu,ENST00000550825,;LRIG3,3_prime_UTR_variant,,ENST00000433272,;LRIG3,non_coding_transcript_exon_variant,,ENST00000552646,;	A	ENST00000320743	Transcript	missense_variant	3106/4070	2819/3360	940/1119	P/L	cCt/cTt		1		-1	LRIG3	HGNC	HGNC:30991	protein_coding	YES	CCDS8960.1	ENSP00000326759	Q6UXM1		UPI0000035BB5	NM_153377.4	tolerated_low_confidence(0.15)		17/19																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	58874450	58874450	G	A	1	0	0	0	0	1	0	0	0	8841	1000	35	3		3	LRIG3	12	58874450	Missense_Mutation	SNP	G	C3L-02365_TP	1158520	58874450	74400859	269	9745											
DPY19L2	0	.	GRCh38	chr12	63580706	63580706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaaagttcttcctgaGgcaaattattaaattctcct	13	15	5	8	0	2	1	0	1	2	0	4	1	3	1	2	1	0	3	2	1	6	6	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1856C>T	p.Pro619Leu	p.P619L	ENST00000324472	19/22	107	71	36	155	155	0	strelka-varscan-mutect	DPY19L2,missense_variant,p.Pro619Leu,ENST00000324472,NM_173812.4;DPY19L2,non_coding_transcript_exon_variant,,ENST00000413230,;DPY19L2,intron_variant,,ENST00000439061,;	A	ENST00000324472	Transcript	missense_variant	2040/4060	1856/2277	619/758	P/L	cCt/cTt		1		-1	DPY19L2	HGNC	HGNC:19414	protein_coding	YES	CCDS31851.1	ENSP00000315988	Q6NUT2		UPI000006EC0C	NM_173812.4	deleterious(0)		19/22		Pfam_domain:PF10034,hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	63580706	63580706	G	A	1	0	0	0	0	1	0	0	0	4556	1000	35	3		3	DPY19L2	12	63580706	Missense_Mutation	SNP	G	C3L-02365_TP	4706256	63580706	69694603	270	9746											
PTPRB	0	.	GRCh38	chr12	70538943	70538943	+	Silent	SNP	T	T	C																															cagggcaatatattgttgtaTcgatttttccctctattctc																								novel		C3L-02365_TP	C3L-02365_NB	T	T																c.5850A>G	p.=	p.R1950R	ENST00000334414	27/34	191	169	22	217	217	0	strelka-mutect	PTPRB,synonymous_variant,p.=,ENST00000334414,NM_001109754.2;PTPRB,synonymous_variant,p.=,ENST00000550358,;PTPRB,synonymous_variant,p.=,ENST00000261266,NM_002837.4;PTPRB,synonymous_variant,p.=,ENST00000538708,NM_001206972.1;PTPRB,synonymous_variant,p.=,ENST00000550857,NM_001206971.1;RP11-588H23.3,non_coding_transcript_exon_variant,,ENST00000548687,;RP11-588H23.3,downstream_gene_variant,,ENST00000546836,;RP11-588H23.3,downstream_gene_variant,,ENST00000551438,;RP11-588H23.3,downstream_gene_variant,,ENST00000549460,;RP11-588H23.3,downstream_gene_variant,,ENST00000547656,;PTPRB,downstream_gene_variant,,ENST00000549400,;	C	ENST00000334414	Transcript	synonymous_variant	5895/12316	5850/6648	1950/2215	R	cgA/cgG		1		-1	PTPRB	HGNC	HGNC:9665	protein_coding	YES	CCDS44943.1	ENSP00000334928	P23467		UPI00002294FA	NM_001109754.2			27/34		PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF288,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	34	70538943	70538943	T	C	1	0	0	0	0	0	0	0	1	12950	1422	50	5		5	PTPRB	12	70538943	Silent	SNP	T	C3L-02365_TP	6958237	70538943	62736366	271	9747	225	2									
PTPRB	0	.	GRCh38	chr12	70538944	70538944	+	Missense_Mutation	SNP	C	C	G																															agggcaatatattgttgtatCgatttttccctctattctcc																								novel		C3L-02365_TP	C3L-02365_NB	C	C																c.5849G>C	p.Arg1950Pro	p.R1950P	ENST00000334414	27/34	194	171	23	218	218	0	strelka-mutect	PTPRB,missense_variant,p.Arg1950Pro,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Arg1862Pro,ENST00000550358,;PTPRB,missense_variant,p.Arg1732Pro,ENST00000261266,NM_002837.4;PTPRB,missense_variant,p.Arg1642Pro,ENST00000538708,NM_001206972.1;PTPRB,missense_variant,p.Arg1642Pro,ENST00000550857,NM_001206971.1;RP11-588H23.3,non_coding_transcript_exon_variant,,ENST00000548687,;RP11-588H23.3,downstream_gene_variant,,ENST00000546836,;RP11-588H23.3,downstream_gene_variant,,ENST00000551438,;RP11-588H23.3,downstream_gene_variant,,ENST00000549460,;RP11-588H23.3,downstream_gene_variant,,ENST00000547656,;PTPRB,downstream_gene_variant,,ENST00000549400,;	G	ENST00000334414	Transcript	missense_variant	5894/12316	5849/6648	1950/2215	R/P	cGa/cCa		1		-1	PTPRB	HGNC	HGNC:9665	protein_coding	YES	CCDS44943.1	ENSP00000334928	P23467		UPI00002294FA	NM_001109754.2	deleterious(0)		27/34		PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF288,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	70538944	70538944	C	G	1	0	0	0	0	1	0	0	0	12950	884	31	4		4	PTPRB	12	70538944	Missense_Mutation	SNP	C	C3L-02365_TP	1	70538944	62736365	272	9748	225	2									
ZFC3H1	0	.	GRCh38	chr12	71633349	71633349	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttctgtaagttttgtaatcTttgcttcagcatttctaaca	9	19	6	7	0	4	0	1	0	3	0	4	0	4	0	0	0	3	6	0	0	3	9			C3L-02365_TP	C3L-02365_NB	T	T																c.2600A>T	p.Lys867Met	p.K867M	ENST00000378743	13/35	118	93	25	160	160	0	strelka-varscan-mutect	ZFC3H1,missense_variant,p.Lys867Met,ENST00000378743,NM_144982.4;ZFC3H1,missense_variant,p.Lys867Met,ENST00000552994,;ZFC3H1,upstream_gene_variant,,ENST00000546606,;	A	ENST00000378743	Transcript	missense_variant	2959/7285	2600/5970	867/1989	K/M	aAg/aTg	COSM549851	1		-1	ZFC3H1	HGNC	HGNC:28328	protein_coding	YES	CCDS41813.1	ENSP00000368017	O60293		UPI00003668E9	NM_144982.4	deleterious(0)		13/35		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21563											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	34	71633349	71633349	T	A	1	0	0	0	0	1	0	0	0	18210	1609	56	4		4	ZFC3H1	12	71633349	Missense_Mutation	SNP	T	C3L-02365_TP	1094405	71633349	61641960	273	9749											
PTPRQ	0	.	GRCh38	chr12	80444781	80444781	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctggtactaggtacgataTaaccatctcttcaatttcta	11	15	5	10	1	3	0	1	0	2	0	5	1	4	0	2	2	3	2	2	2	7	8	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.95T>A	p.Ile32Lys	p.I32K	ENST00000614701	2/45	255	200	55	334	333	1	strelka-varscan-mutect	PTPRQ,missense_variant,p.Ile32Lys,ENST00000614701,NM_001145026.1;PTPRQ,missense_variant,p.Ile74Lys,ENST00000616559,;PTPRQ,missense_variant,p.Ile234Lys,ENST00000551042,;PTPRQ,missense_variant,p.Ile320Lys,ENST00000547376,;PTPRQ,missense_variant,p.Ile250Lys,ENST00000551573,;	A	ENST00000614701	Transcript	missense_variant	273/8289	95/6900	32/2299	I/K	aTa/aAa		1		1	PTPRQ	HGNC	HGNC:9679	protein_coding	YES	CCDS73501.1	ENSP00000482885		A0A087WZU1	UPI000192953C	NM_001145026.1	deleterious(0)		2/45		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF414,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs1032530333	.												A	3	1	34	80444781	80444781	T	A	1	0	0	0	0	1	0	0	0	12964	1406	49	4		4	PTPRQ	12	80444781	Missense_Mutation	SNP	T	C3L-02365_TP	8811432	80444781	52830528	274	9750											
MYF5	0	.	GRCh38	chr12	80717229	80717229	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagatgaggacgagcacgtgCgagcgcctaccggccaccac	10	3	13	15	5	0	2	0	1	0	1	0	5	0	3	4	2	4	1	4	2	1	1	rs755386072		C3L-02365_TP	C3L-02365_NB	C	C																c.166C>G	p.Arg56Gly	p.R56G	ENST00000228644	1/3	235	193	42	246	246	0	strelka-varscan-mutect	MYF5,missense_variant,p.Arg56Gly,ENST00000228644,NM_005593.2;	G	ENST00000228644	Transcript	missense_variant	318/1542	166/768	56/255	R/G	Cga/Gga	rs755386072,COSM5298404	1		1	MYF5	HGNC	HGNC:7565	protein_coding	YES	CCDS9020.1	ENSP00000228644	P13349		UPI000013C8D9	NM_005593.2	deleterious(0.01)		1/3		hmmpanther:PTHR11534:SF3,hmmpanther:PTHR11534,Pfam_domain:PF01586,SMART_domains:SM00520											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs755386072	.												G	3	3	34	80717229	80717229	C	G	1	0	0	0	0	1	0	0	0	10027	760	27	4		4	MYF5	12	80717229	Missense_Mutation	SNP	C	C3L-02365_TP	272448	80717229	52558080	275	9751											
SLC6A15	0	.	GRCh38	chr12	84885919	84885919	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggaaacttactacacaacTtgcaaatccaatcccgccca	16	7	4	14	1	0	0	0	0	0	0	2	1	2	1	3	1	5	1	3	1	7	3	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.439A>T	p.Ser147Cys	p.S147C	ENST00000266682	3/12	102	79	23	120	120	0	strelka-varscan-mutect	SLC6A15,missense_variant,p.Ser147Cys,ENST00000266682,NM_182767.5;SLC6A15,missense_variant,p.Ser147Cys,ENST00000450363,NM_018057.6;SLC6A15,missense_variant,p.Ser40Cys,ENST00000552192,NM_001146335.2;SLC6A15,intron_variant,,ENST00000551612,;SLC6A15,non_coding_transcript_exon_variant,,ENST00000547240,;SLC6A15,intron_variant,,ENST00000551388,;	A	ENST00000266682	Transcript	missense_variant	981/4879	439/2193	147/730	S/C	Agt/Tgt		1		-1	SLC6A15	HGNC	HGNC:13621	protein_coding	YES	CCDS9026.1	ENSP00000266682	Q9H2J7		UPI0000038BF2	NM_182767.5	deleterious(0)		3/12		Superfamily_domains:0053687,Pfam_domain:PF00209,Prints_domain:PR00176,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	84885919	84885919	T	A	1	0	0	0	0	1	0	0	0	14961	1609	56	4		4	SLC6A15	12	84885919	Missense_Mutation	SNP	T	C3L-02365_TP	4168690	84885919	48389390	276	9752											
DCN	0	.	GRCh38	chr12	91151736	91151736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctccctcagatgaggcGtgttggccagagagccattg	9	8	14	10	1	1	3	1	1	0	2	2	5	2	3	3	2	2	2	3	2	1	2	rs3138268		C3L-02365_TP	C3L-02365_NB	G	G																c.803C>A	p.Thr268Lys	p.T268K	ENST00000052754	7/8	353	299	54	390	390	0	strelka-varscan-mutect	DCN,missense_variant,p.Thr268Lys,ENST00000052754,NM_001920.3;DCN,missense_variant,p.Thr268Lys,ENST00000393155,NM_133503.2;DCN,missense_variant,p.Thr268Lys,ENST00000552962,;DCN,missense_variant,p.Thr121Lys,ENST00000425043,NM_133505.2;DCN,missense_variant,p.Thr38Lys,ENST00000550758,;DCN,missense_variant,p.Thr121Lys,ENST00000547568,;DCN,missense_variant,p.Thr159Lys,ENST00000420120,NM_133504.2;DCN,missense_variant,p.Thr121Lys,ENST00000546391,;DCN,intron_variant,,ENST00000441303,NM_133506.2;DCN,intron_variant,,ENST00000456569,NM_133507.2;	T	ENST00000052754	Transcript	missense_variant	1305/7156	803/1080	268/359	T/K	aCg/aAg	rs3138268	1		-1	DCN	HGNC	HGNC:2705	protein_coding	YES	CCDS9039.1	ENSP00000052754	P07585	Q6FH10	UPI000013187E	NM_001920.3	deleterious(0.01)		7/8		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF5,PIRSF_domain:PIRSF002490,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058												1903615621637745					MODERATE	1	SNV	1			1										PASS		rs3138268	.												T	3	4	34	91151736	91151736	G	T	1	0	0	0	0	1	0	0	0	4099	1145	40	1		1	DCN	12	91151736	Missense_Mutation	SNP	G	C3L-02365_TP	6265817	91151736	42123573	277	9753											
TDG	0	.	GRCh38	chr12	103986947	103986947	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtttttcttttctggcaGttgagagcgtggagttaaga	7	18	12	4	1	2	2	0	1	2	2	2	4	2	3	0	2	1	4	0	2	1	7	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1091-1G>A		p.X364_splice	ENST00000392872		96	90	6	109	109	0	varscan-mutect	TDG,splice_acceptor_variant,,ENST00000392872,NM_003211.4;TDG,splice_acceptor_variant,,ENST00000266775,;TDG,splice_acceptor_variant,,ENST00000544861,;GLT8D2,downstream_gene_variant,,ENST00000360814,NM_031302.3;GLT8D2,downstream_gene_variant,,ENST00000548660,;GLT8D2,downstream_gene_variant,,ENST00000546436,;TDG,downstream_gene_variant,,ENST00000537100,;TDG,downstream_gene_variant,,ENST00000436021,;TDG,non_coding_transcript_exon_variant,,ENST00000536395,;TDG,splice_acceptor_variant,,ENST00000542926,;TDG,splice_acceptor_variant,,ENST00000540956,;	A	ENST00000392872	Transcript	splice_acceptor_variant	-/3251	1091/1233	364/410				1		1	TDG	HGNC	HGNC:11700	protein_coding	YES	CCDS9095.1	ENSP00000376611	Q13569		UPI00000740E5	NM_003211.4				9/9																		HIGH	1	SNV	1			1										PASS		rs1452810794	.												A	5	1	34	103986947	103986947	G	A	1	0	0	0	0	0	0	1	0	16133	1043	36	3		3	TDG	12	103986947	Splice_Site	SNP	G	C3L-02365_TP	12835211	103986947	29288362	278	9754											
BTBD11	0	.	GRCh38	chr12	107319878	107319878	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccagcgggggcagcagctGttgcgccccgccggccgccg	3	3	17	18	7	0	0	0	0	0	0	0	0	0	0	6	3	4	4	6	3	0	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.938G>C	p.Cys313Ser	p.C313S	ENST00000280758	1/17	69	54	15	85	85	0	strelka-mutect	BTBD11,missense_variant,p.Cys313Ser,ENST00000280758,NM_001018072.1;BTBD11,missense_variant,p.Cys313Ser,ENST00000490090,;BTBD11,missense_variant,p.Cys313Ser,ENST00000420571,;BTBD11,upstream_gene_variant,,ENST00000415943,;BTBD11,upstream_gene_variant,,ENST00000550706,;	C	ENST00000280758	Transcript	missense_variant	1466/5767	938/3315	313/1104	C/S	tGt/tCt		1		1	BTBD11	HGNC	HGNC:23844	protein_coding	YES	CCDS31893.1	ENSP00000280758	A6QL63		UPI000051901E	NM_001018072.1	tolerated_low_confidence(0.73)		1/17		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	34	107319878	107319878	G	C	1	0	0	0	0	1	0	0	0	1714	1377	48	4		4	BTBD11	12	107319878	Missense_Mutation	SNP	G	C3L-02365_TP	3332931	107319878	25955431	279	9755											
OAS3	0	.	GRCh38	chr12	112944684	112944684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggtttctccagacatGtgactgtttgctttgtgctt	6	16	12	7	0	1	2	0	1	1	1	2	3	1	3	1	2	2	4	1	2	1	4	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.669G>T	p.Met223Ile	p.M223I	ENST00000548514	3/3	194	151	43	194	194	0	varscan-mutect	OAS3,missense_variant,p.Met223Ile,ENST00000548514,;OAS3,intron_variant,,ENST00000228928,NM_006187.3;OAS3,downstream_gene_variant,,ENST00000551007,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS3,intron_variant,,ENST00000546638,;	T	ENST00000548514	Transcript	missense_variant	740/1392	669/672	223/223	M/I	atG/atT		1		1	OAS3	HGNC	HGNC:8088	protein_coding			ENSP00000448388		F8VS35	UPI0001EE47DB				3/3																			MODERATE		SNV	2			1										PASS		.	.												T	3	4	34	112944684	112944684	G	T	1	0	0	0	0	1	0	0	0	10880	1377	48	2		2	OAS3	12	112944684	Missense_Mutation	SNP	G	C3L-02365_TP	5624806	112944684	20330625	280	9756											
TESC	0	.	GRCh38	chr12	117049047	117049047	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccttccgggacagctcCacctgttcctcgtccatggt	4	13	8	16	2	1	0	0	0	1	0	7	1	5	1	6	2	1	2	6	2	0	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.321G>T	p.=	p.V107V	ENST00000335209	4/8	214	171	43	226	226	0	strelka-varscan-mutect	TESC,synonymous_variant,p.=,ENST00000335209,NM_017899.3;TESC,synonymous_variant,p.=,ENST00000541210,NM_001168325.1;TESC,upstream_gene_variant,,ENST00000549210,;TESC,non_coding_transcript_exon_variant,,ENST00000535198,;TESC,synonymous_variant,p.=,ENST00000470612,;TESC,synonymous_variant,p.=,ENST00000462502,;TESC,non_coding_transcript_exon_variant,,ENST00000482176,;	A	ENST00000335209	Transcript	synonymous_variant	508/1041	321/645	107/214	V	gtG/gtT		1		-1	TESC	HGNC	HGNC:26065	protein_coding	YES	CCDS9183.3	ENSP00000334785	Q96BS2		UPI0000136BF7	NM_017899.3			4/8		Gene3D:1.10.238.10,hmmpanther:PTHR23056,hmmpanther:PTHR23056:SF2,Superfamily_domains:SSF47473																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	117049047	117049047	C	A	1	0	0	0	0	0	0	0	1	16185	581	21	2		2	TESC	12	117049047	Silent	SNP	C	C3L-02365_TP	4104363	117049047	16226262	281	9757											
KSR2	0	.	GRCh38	chr12	117539860	117539860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggggttgctgctggagtCtggctggtaagggacaggga	7	8	21	5	0	1	0	0	0	1	0	1	4	1	4	0	8	2	5	0	8	1	2	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1459G>C	p.Asp487His	p.D487H	ENST00000425217	10/20	236	181	55	221	221	0	strelka-varscan-mutect	KSR2,missense_variant,p.Asp516His,ENST00000339824,;KSR2,missense_variant,p.Asp487His,ENST00000425217,NM_173598.4;KSR2,non_coding_transcript_exon_variant,,ENST00000545002,;KSR2,non_coding_transcript_exon_variant,,ENST00000543793,;	G	ENST00000425217	Transcript	missense_variant	1514/17008	1459/2766	487/921	D/H	Gac/Cac		1		-1	KSR2	HGNC	HGNC:18610	protein_coding	YES	CCDS61250.1	ENSP00000389715		E9PB13	UPI000164FA1C	NM_173598.4	deleterious(0)		10/20		hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF376																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	34	117539860	117539860	C	G	1	0	0	0	0	1	0	0	0	8481	913	32	4		4	KSR2	12	117539860	Missense_Mutation	SNP	C	C3L-02365_TP	490813	117539860	15735449	282	9758											
FLT3	0	.	GRCh38	chr13	28034350	28034350	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaacgacaatgaagaggAgacaaacaccaattgttgca	19	7	8	7	1	0	3	0	1	0	2	0	5	0	3	1	1	3	2	1	1	6	3	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.1655T>C	p.Leu552Pro	p.L552P	ENST00000241453	13/24	222	189	33	258	256	2	strelka-varscan-mutect	FLT3,missense_variant,p.Leu552Pro,ENST00000241453,NM_004119.2;FLT3,missense_variant,p.Leu552Pro,ENST00000380987,;	G	ENST00000241453	Transcript	missense_variant	1737/3842	1655/2982	552/993	L/P	cTc/cCc		1		-1	FLT3	HGNC	HGNC:3765	protein_coding	YES	CCDS31953.1	ENSP00000241453	P36888		UPI00001FC90B	NM_004119.2	deleterious(0.04)		13/24		Transmembrane_helices:TMhelix,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF356																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	28034350	28034350	A	G	1	0	0	0	0	1	0	0	0	5798	304	11	5		5	FLT3	13	28034350	Missense_Mutation	SNP	A	C3L-02365_TP		28034350	86329978	283	9759											
LRRC63	0	.	GRCh38	chr13	46227938	46227938	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagttatcgctcaaaaacTtgagaaaatgcaccctaagc	15	9	6	11	1	2	1	2	1	0	1	3	2	2	1	1	0	3	3	1	0	6	3	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.512T>G	p.Leu171Arg	p.L171R	ENST00000595396	2/9	233	188	45	243	243	0	strelka-varscan-mutect	LRRC63,missense_variant,p.Leu171Arg,ENST00000595396,;LRRC63,missense_variant,p.Leu171Arg,ENST00000446175,NM_001282460.1;LRRC63,missense_variant,p.Leu171Arg,ENST00000378805,;	G	ENST00000595396	Transcript	missense_variant	512/2327	512/1764	171/587	L/R	cTt/cGt		1		1	LRRC63	HGNC	HGNC:34296	protein_coding	YES	CCDS61325.1	ENSP00000469337		J3KQU2	UPI0002742DC2		tolerated(0.37)		2/9																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	34	46227938	46227938	T	G	1	0	0	0	0	1	0	0	0	8913	1609	56	5		5	LRRC63	13	46227938	Missense_Mutation	SNP	T	C3L-02365_TP	18193588	46227938	68136390	284	9760											
TPP2	0	.	GRCh38	chr13	102674455	102674455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctggcagaaacattttggGaaactactaaatggactgat	14	11	9	7	0	1	2	0	1	1	1	1	4	1	4	0	3	3	1	0	3	5	4	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.3505G>A	p.Glu1169Lys	p.E1169K	ENST00000376065	27/29	251	222	29	283	283	0	strelka-varscan-mutect	TPP2,missense_variant,p.Glu1182Lys,ENST00000376052,;TPP2,missense_variant,p.Glu1169Lys,ENST00000376065,NM_003291.2;TPP2,non_coding_transcript_exon_variant,,ENST00000466153,;TPP2,downstream_gene_variant,,ENST00000482393,;	A	ENST00000376065	Transcript	missense_variant	3541/3931	3505/3750	1169/1249	E/K	Gaa/Aaa		1		1	TPP2	HGNC	HGNC:12016	protein_coding	YES	CCDS9502.1	ENSP00000365233	P29144		UPI0000001C91	NM_003291.2	deleterious(0.04)		27/29																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	102674455	102674455	G	A	1	0	0	0	0	1	0	0	0	16893	1175	41	3		3	TPP2	13	102674455	Missense_Mutation	SNP	G	C3L-02365_TP	56446517	102674455	11689873	285	9761											
BIVM	0	.	GRCh38	chr13	102816474	102816474	+	Frame_Shift_Del	DEL	G	G	-																															agaaaaacttcagataaaaaGggaagatatcagaaggaatg																								novel		C3L-02365_TP	C3L-02365_NB	G	G																c.441delG	p.Gly148GlufsTer22	p.G148Efs*22	ENST00000602836	2/21	119	66	53	157	157	0	sindel-varindel-pindel	BIVM-ERCC5,frameshift_variant,p.Gly148GlufsTer22,ENST00000602836,NM_001204425.1;BIVM,frameshift_variant,p.Gly176GlufsTer22,ENST00000257336,NM_017693.3;BIVM,5_prime_UTR_variant,,ENST00000448849,NM_001159596.1;BIVM,non_coding_transcript_exon_variant,,ENST00000474443,;BIVM,upstream_gene_variant,,ENST00000490317,;	-	ENST00000602836	Transcript	frameshift_variant	439/4155	441/4157	147/1385	K/X	aaG/aa		1		1	BIVM-ERCC5	HGNC	HGNC:43690	protein_coding	YES		ENSP00000473384		R4GMW8	UPI0002B83330	NM_001204425.1			2/21		hmmpanther:PTHR16171:SF5,hmmpanther:PTHR16171																	HIGH		deletion	5	2		1										PASS		.	.												-	7	5	34	102816474	102816474	G	-	1	0	1	0	1	0	0	0	0	1592	991	35	0		0	BIVM	13	102816474	Frame_Shift_Del	DEL	G	C3L-02365_TP	142019	102816474	11547854	286	9762											
COL4A2	0	.	GRCh38	chr13	110424957	110424957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgctttcttcatagggagCaagaggcgtttctggattcc	7	15	11	8	1	3	1	1	0	2	1	4	3	4	3	1	3	2	3	1	3	2	6	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.320C>A	p.Ala107Glu	p.A107E	ENST00000360467	6/48	202	150	52	230	230	0	strelka-varscan-mutect	COL4A2,missense_variant,p.Ala107Glu,ENST00000360467,NM_001846.2;COL4A2,downstream_gene_variant,,ENST00000400163,;RP11-291I6.2,upstream_gene_variant,,ENST00000619688,;	A	ENST00000360467	Transcript	missense_variant	626/6281	320/5139	107/1712	A/E	gCa/gAa		1		1	COL4A2	HGNC	HGNC:2203	protein_coding	YES	CCDS41907.1	ENSP00000353654	P08572	A0A024RDW8	UPI000041C713	NM_001846.2	tolerated(0.59)		6/48		hmmpanther:PTHR24023:SF588,hmmpanther:PTHR24023,Pfam_domain:PF01391																	MODERATE	1	SNV	5			1										PASS		rs932645606	.												A	3	1	34	110424957	110424957	C	A	1	0	0	0	0	1	0	0	0	3479	724	25	2		2	COL4A2	13	110424957	Missense_Mutation	SNP	C	C3L-02365_TP	7608483	110424957	3939371	287	9763											
OR4M1	0	.	GRCh38	chr14	19780557	19780557	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtactcttccattacagccCctaaaatgctcatagacttc	11	12	5	13	0	2	1	1	0	1	1	4	1	3	1	3	1	4	2	3	1	5	6			C3L-02365_TP	C3L-02365_NB	C	C																c.235C>A	p.Pro79Thr	p.P79T	ENST00000315957	1/1	469	417	52	442	442	0	strelka-varscan-mutect	OR4M1,missense_variant,p.Pro79Thr,ENST00000315957,NM_001005500.1;OR4N2,intron_variant,,ENST00000557414,;	A	ENST00000315957	Transcript	missense_variant	316/1116	235/942	79/313	P/T	Cct/Act	COSM1649083	1		1	OR4M1	HGNC	HGNC:14735	protein_coding	YES	CCDS32021.1	ENSP00000319654	Q8NGD0	A0A126GWC3	UPI0000061F0F	NM_001005500.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE	1	SNV			1	1										PASS		rs1280030056	.												A	3	1	34	19780557	19780557	C	A	1	0	0	0	0	1	0	0	0	11152	623	22	2		2	OR4M1	14	19780557	Missense_Mutation	SNP	C	C3L-02365_TP		19780557	87263161	288	9764											
OXA1L	0	.	GRCh38	chr14	22766678	22766678	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcttactgcgcaggcgcaAaagcaagtcctcttccgggc	8	9	11	13	3	2	0	0	0	2	0	4	0	4	0	2	2	3	4	2	2	4	3	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.157A>T	p.Lys53Ter	p.K53*	ENST00000612549	1/10	507	437	70	427	427	0	strelka-varscan-mutect	OXA1L,stop_gained,p.Lys53Ter,ENST00000612549,;OXA1L,stop_gained,p.Lys53Ter,ENST00000285848,NM_005015.3;OXA1L,upstream_gene_variant,,ENST00000358043,;OXA1L,upstream_gene_variant,,ENST00000604262,;OXA1L,upstream_gene_variant,,ENST00000412791,;OXA1L,upstream_gene_variant,,ENST00000431881,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554857,;CTD-2555K7.2,upstream_gene_variant,,ENST00000553792,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554730,;OXA1L,non_coding_transcript_exon_variant,,ENST00000483939,;OXA1L,upstream_gene_variant,,ENST00000495424,;OXA1L,upstream_gene_variant,,ENST00000481218,;OXA1L,upstream_gene_variant,,ENST00000473744,;OXA1L,upstream_gene_variant,,ENST00000442110,;OXA1L,upstream_gene_variant,,ENST00000556473,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554194,;OXA1L,upstream_gene_variant,,ENST00000557299,;	T	ENST00000612549	Transcript	stop_gained	157/2971	157/1488	53/495	K/*	Aaa/Taa		1		1	OXA1L	HGNC	HGNC:8526	protein_coding	YES	CCDS9573.1	ENSP00000483491		J3KNA0	UPI000013DE11				1/10		hmmpanther:PTHR12428:SF14,hmmpanther:PTHR12428																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	34	22766678	22766678	A	T	1	0	0	0	0	0	1	0	0	11400	15	1	4		4	OXA1L	14	22766678	Nonsense_Mutation	SNP	A	C3L-02365_TP	2986121	22766678	84277040	289	9765											
ACIN1	0	.	GRCh38	chr14	23093518	23093518	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcatggggtgttgagtgTttctgtaaattttctagcat	8	16	12	5	0	2	1	0	1	2	0	2	1	2	1	0	2	2	6	0	2	3	6	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.339A>G	p.=	p.K113K	ENST00000262710	2/19	349	281	68	313	313	0	strelka-varscan-mutect	ACIN1,synonymous_variant,p.=,ENST00000262710,NM_014977.3;ACIN1,synonymous_variant,p.=,ENST00000457657,NM_001164815.1;ACIN1,synonymous_variant,p.=,ENST00000605057,;ACIN1,synonymous_variant,p.=,ENST00000555053,NM_001164814.1;C14orf119,upstream_gene_variant,,ENST00000319074,NM_017924.3;C14orf119,upstream_gene_variant,,ENST00000554203,;	C	ENST00000262710	Transcript	synonymous_variant	667/4935	339/4026	113/1341	K	aaA/aaG		1		-1	ACIN1	HGNC	HGNC:17066	protein_coding	YES	CCDS9587.1	ENSP00000262710	Q9UKV3		UPI000013D308	NM_014977.3			2/19																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	34	23093518	23093518	T	C	1	0	0	0	0	0	0	0	1	180	1722	60	5		5	ACIN1	14	23093518	Silent	SNP	T	C3L-02365_TP	326840	23093518	83950200	290	9766											
NYNRIN	0	.	GRCh38	chr14	24408478	24408478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggagccactgggtccCtgatcacagcccagagcaca	9	5	12	15	0	1	2	1	1	0	1	2	3	2	3	4	2	3	1	4	2	0	0	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.808C>A	p.Leu270Met	p.L270M	ENST00000382554	3/9	102	81	21	70	70	0	strelka-varscan-mutect	NYNRIN,missense_variant,p.Leu270Met,ENST00000382554,NM_025081.2;NYNRIN,upstream_gene_variant,,ENST00000554505,;	A	ENST00000382554	Transcript	missense_variant	1126/7857	808/5697	270/1898	L/M	Ctg/Atg		1		1	NYNRIN	HGNC	HGNC:20165	protein_coding	YES	CCDS45090.1	ENSP00000371994	Q9P2P1		UPI0000251E63	NM_025081.2	deleterious_low_confidence(0.01)		3/9		hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	34	24408478	24408478	C	A	1	0	0	0	0	1	0	0	0	10874	680	24	2		2	NYNRIN	14	24408478	Missense_Mutation	SNP	C	C3L-02365_TP	1314960	24408478	82635240	291	9767											
PRKD1	0	.	GRCh38	chr14	29725653	29725653	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatcttatcatacattcCgtagaaaccacattcaggga	14	10	7	10	1	3	1	2	0	1	1	4	3	4	3	2	2	2	1	2	2	4	5			C3L-02365_TP	C3L-02365_NB	C	C																c.286G>T	p.Gly96Ter	p.G96*	ENST00000331968	2/18	182	141	41	164	164	0	strelka-varscan-mutect	PRKD1,stop_gained,p.Gly96Ter,ENST00000331968,NM_002742.2;PRKD1,stop_gained,p.Gly96Ter,ENST00000616995,;PRKD1,stop_gained,p.Gly96Ter,ENST00000415220,;PRKD1,stop_gained,p.Gly19Ter,ENST00000549503,;	A	ENST00000331968	Transcript	stop_gained	516/3726	286/2739	96/912	G/*	Gga/Tga	COSM5046592,COSM5046593	1		-1	PRKD1	HGNC	HGNC:9407	protein_coding	YES	CCDS9637.1	ENSP00000333568	Q15139		UPI0000456761	NM_002742.2			2/18		PIRSF_domain:PIRSF000552,hmmpanther:PTHR22968											1,1						HIGH	1	SNV	1		1,1	1										PASS		rs1186546402	.												A	4	1	34	29725653	29725653	C	A	1	0	0	0	0	0	1	0	0	12651	661	23	1		1	PRKD1	14	29725653	Nonsense_Mutation	SNP	C	C3L-02365_TP	5317175	29725653	77318065	292	9768											
HECTD1	0	.	GRCh38	chr14	31173175	31173175	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcctgtgtcaattgcatcTataagtgcatcggtatcttt	8	16	7	10	1	3	0	1	0	2	0	5	0	4	0	2	1	2	3	2	1	4	5	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.1137A>G	p.Ile379Met	p.I379M	ENST00000399332	6/43	169	138	31	147	146	1	strelka-varscan-mutect	HECTD1,missense_variant,p.Ile379Met,ENST00000399332,NM_015382.3;HECTD1,missense_variant,p.Ile379Met,ENST00000553700,;HECTD1,missense_variant,p.Ile379Met,ENST00000611816,;HECTD1,missense_variant,p.Ile379Met,ENST00000556224,;HECTD1,missense_variant,p.Ile200Met,ENST00000554471,;HECTD1,upstream_gene_variant,,ENST00000553957,;HECTD1,downstream_gene_variant,,ENST00000553616,;	C	ENST00000399332	Transcript	missense_variant	1626/9134	1137/7833	379/2610	I/M	atA/atG		1		-1	HECTD1	HGNC	HGNC:20157	protein_coding	YES	CCDS41939.1	ENSP00000382269	Q9ULT8		UPI0000D9BBA1	NM_015382.3	tolerated(0.06)		6/43		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF322,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		rs1173440772	.												C	3	2	34	31173175	31173175	T	C	1	0	0	0	0	1	0	0	0	6920	1512	53	5		5	HECTD1	14	31173175	Missense_Mutation	SNP	T	C3L-02365_TP	1447522	31173175	75870543	293	9769											
NUBPL	0	.	GRCh38	chr14	31673385	31673385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggcctctcttgaattatgGtattgcttggtgagcatata	9	15	11	6	0	1	2	0	2	1	0	2	3	1	2	1	3	2	3	1	3	5	7	rs201412882		C3L-02365_TP	C3L-02365_NB	G	G																c.413G>T	p.Gly138Val	p.G138V	ENST00000281081	5/11	312	205	107	333	333	0	strelka-varscan-mutect	NUBPL,missense_variant,p.Gly138Val,ENST00000281081,NM_025152.2;NUBPL,missense_variant,p.Gly86Val,ENST00000551314,;NUBPL,intron_variant,,ENST00000550649,;NUBPL,non_coding_transcript_exon_variant,,ENST00000550355,;NUBPL,non_coding_transcript_exon_variant,,ENST00000548937,;NUBPL,missense_variant,p.Gly138Val,ENST00000547839,;NUBPL,3_prime_UTR_variant,,ENST00000549838,;NUBPL,3_prime_UTR_variant,,ENST00000552489,;	T	ENST00000281081	Transcript	missense_variant	458/3049	413/960	138/319	G/V	gGt/gTt	rs201412882	1		1	NUBPL	HGNC	HGNC:20278	protein_coding	YES	CCDS41940.1	ENSP00000281081	Q8TB37	X5D2R5	UPI00003669AB	NM_025152.2	deleterious(0)		5/11		HAMAP:MF_02040,hmmpanther:PTHR23264:SF31,hmmpanther:PTHR23264,Pfam_domain:PF10609,Gene3D:3.40.50.300,Superfamily_domains:SSF52540										likely_pathogenic							MODERATE	1	SNV	1		1	1										PASS		rs201412882	.												T	3	4	34	31673385	31673385	G	T	1	0	0	0	0	1	0	0	0	10783	1261	44	2		2	NUBPL	14	31673385	Missense_Mutation	SNP	G	C3L-02365_TP	500210	31673385	75370333	294	9770											
NPAS3	0	.	GRCh38	chr14	33799873	33799873	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacggccacagctccagtaaCccggacagccgcgacagcga	11	2	12	16	5	0	0	0	0	0	0	1	4	1	1	4	2	4	2	4	2	1	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1566C>A	p.Asn522Lys	p.N522K	ENST00000356141	12/12	625	537	88	439	439	0	strelka-varscan-mutect	NPAS3,missense_variant,p.Asn490Lys,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Asn492Lys,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Asn527Lys,ENST00000551492,;NPAS3,missense_variant,p.Asn522Lys,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Asn509Lys,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Asn496Lys,ENST00000551634,;	A	ENST00000356141	Transcript	missense_variant	1566/2802	1566/2802	522/933	N/K	aaC/aaA		1		1	NPAS3	HGNC	HGNC:19311	protein_coding	YES	CCDS53891.1	ENSP00000348460	Q8IXF0	X5D2Q4	UPI00000743C2	NM_001164749.1	deleterious(0.03)		12/12		Low_complexity_(Seg):seg,hmmpanther:PTHR23043:SF30,hmmpanther:PTHR23043																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	33799873	33799873	C	A	1	0	0	0	0	1	0	0	0	10612	506	18	2		2	NPAS3	14	33799873	Missense_Mutation	SNP	C	C3L-02365_TP	2126488	33799873	73243845	295	9771											
SEC23A	0	.	GRCh38	chr14	39040870	39040870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atatcctggtatcctgacttCcgccactgtgctatggtcta	7	14	8	12	1	1	1	0	1	1	0	4	1	4	1	4	2	1	2	4	2	4	5	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2004G>A	p.=	p.R668R	ENST00000307712	18/20	296	218	78	264	264	0	strelka-varscan-mutect	SEC23A,synonymous_variant,p.=,ENST00000537403,;SEC23A,synonymous_variant,p.=,ENST00000307712,NM_006364.2;SEC23A,synonymous_variant,p.=,ENST00000545328,;SEC23A,non_coding_transcript_exon_variant,,ENST00000554615,;SEC23A,non_coding_transcript_exon_variant,,ENST00000555363,;	T	ENST00000307712	Transcript	synonymous_variant	2522/4135	2004/2298	668/765	R	cgG/cgA		1		-1	SEC23A	HGNC	HGNC:10701	protein_coding	YES	CCDS9668.1	ENSP00000306881	Q15436		UPI000013EC46	NM_006364.2			18/20		Gene3D:3.40.20.10,Pfam_domain:PF00626,hmmpanther:PTHR11141,hmmpanther:PTHR11141:SF7,Superfamily_domains:SSF82754																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	34	39040870	39040870	C	T	1	0	0	0	0	0	0	0	1	14268	842	30	3		3	SEC23A	14	39040870	Silent	SNP	C	C3L-02365_TP	5240997	39040870	68002848	296	9772											
GNG2	0	.	GRCh38	chr14	51827762	51827762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcatgcaggggaaattgcaaCctccaatggaaagagaagca	16	5	12	8	0	0	1	0	0	0	1	1	4	1	3	2	3	4	4	2	3	5	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.19C>A	p.Pro7Thr	p.P7T	ENST00000553432	2/4	187	101	86	182	182	0	strelka-varscan-mutect	GNG2,missense_variant,p.Pro7Thr,ENST00000553432,;GNG2,5_prime_UTR_variant,,ENST00000557376,;RP11-280K24.4,downstream_gene_variant,,ENST00000553312,;GNG2,missense_variant,p.Pro7Thr,ENST00000556522,;	A	ENST00000553432	Transcript	missense_variant	131/577	19/309	7/102	P/T	Cct/Act		1		1	GNG2	HGNC	HGNC:4404	protein_coding			ENSP00000451279		G3V3J9	UPI0000E238D4		tolerated_low_confidence(0.37)		2/4																			MODERATE		SNV	4			1										PASS		.	.												A	3	1	34	51827762	51827762	C	A	1	0	0	0	0	1	0	0	0	6406	507	18	2		2	GNG2	14	51827762	Missense_Mutation	SNP	C	C3L-02365_TP	12786892	51827762	55215956	297	9773											
ATG14	0	.	GRCh38	chr14	55382117	55382117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaggtaagttgtcctcCgggcttcagcaagcttgctc	7	11	12	11	1	1	1	1	1	0	1	4	2	3	1	2	2	3	6	2	2	2	4	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.722G>T	p.Arg241Leu	p.R241L	ENST00000247178	6/10	484	330	154	460	460	0	strelka-varscan-mutect	ATG14,missense_variant,p.Arg241Leu,ENST00000247178,NM_014924.4;ATG14,non_coding_transcript_exon_variant,,ENST00000558189,;	A	ENST00000247178	Transcript	missense_variant	758/4742	722/1479	241/492	R/L	cGg/cTg		1		-1	ATG14	HGNC	HGNC:19962	protein_coding	YES	CCDS32087.1	ENSP00000247178	Q6ZNE5		UPI00001FD5B2	NM_014924.4	deleterious(0.01)		6/10		Pfam_domain:PF10186,hmmpanther:PTHR13664,hmmpanther:PTHR13664:SF0																	MODERATE	1	SNV	1			1										PASS		rs1395803520	.												A	3	1	34	55382117	55382117	C	A	1	0	0	0	0	1	0	0	0	1242	652	23	1		1	ATG14	14	55382117	Missense_Mutation	SNP	C	C3L-02365_TP	3554355	55382117	51661601	298	9774											
C14orf37	0	.	GRCh38	chr14	58138303	58138303	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaggctggcctccttccatAccctcatggcttacttgtgc	6	12	8	15	0	1	0	1	0	0	0	3	0	3	0	4	3	3	2	4	3	3	4	rs781115260		C3L-02365_TP	C3L-02365_NB	A	A																c.1056T>C	p.=	p.G352G	ENST00000267485	2/8	209	178	31	211	211	0	strelka-varscan-mutect	C14orf37,synonymous_variant,p.=,ENST00000267485,NM_001001872.2;C14orf37,non_coding_transcript_exon_variant,,ENST00000334342,;C14orf37,intron_variant,,ENST00000557175,;C14orf37,downstream_gene_variant,,ENST00000554218,;UBA52P3,upstream_gene_variant,,ENST00000491303,;	G	ENST00000267485	Transcript	synonymous_variant	1251/6495	1056/2325	352/774	G	ggT/ggC	rs781115260	1		-1	C14orf37	HGNC	HGNC:19846	protein_coding	YES	CCDS32089.1	ENSP00000267485	Q86TY3		UPI000000CC37	NM_001001872.2			2/8		hmmpanther:PTHR21585,hmmpanther:PTHR21585:SF0,Pfam_domain:PF15767																	LOW	1	SNV	1			1										PASS		rs781115260	.												G	2	3	34	58138303	58138303	A	G	1	0	0	0	0	0	0	0	1	1838	378	14	5		5	C14orf37	14	58138303	Silent	SNP	A	C3L-02365_TP	2756186	58138303	48905415	299	9775											
SIX1	0	.	GRCh38	chr14	60646567	60646567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggaggagttattgttttCggtgttctccctaagaaata	10	14	12	5	1	1	1	0	0	1	1	3	4	1	4	1	4	0	3	1	4	4	7	rs771994916		C3L-02365_TP	C3L-02365_NB	C	C																c.571G>A	p.Glu191Lys	p.E191K	ENST00000247182	2/2	251	237	14	211	211	0	strelka-mutect	SIX1,missense_variant,p.Glu191Lys,ENST00000247182,NM_005982.3;SIX1,missense_variant,p.Glu18Lys,ENST00000554986,;SALRNA1,downstream_gene_variant,,ENST00000555871,;SIX1,non_coding_transcript_exon_variant,,ENST00000553535,;SIX1,non_coding_transcript_exon_variant,,ENST00000555955,;	T	ENST00000247182	Transcript	missense_variant	844/3996	571/855	191/284	E/K	Gaa/Aaa	rs771994916	1		-1	SIX1	HGNC	HGNC:10887	protein_coding	YES	CCDS9748.1	ENSP00000247182	Q15475		UPI00001359BA	NM_005982.3	tolerated(0.37)		2/2		Gene3D:1.10.10.60,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF13,Low_complexity_(Seg):seg,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		rs771994916	.												T	3	4	34	60646567	60646567	C	T	1	0	0	0	0	1	0	0	0	14609	893	31	1		1	SIX1	14	60646567	Missense_Mutation	SNP	C	C3L-02365_TP	2508264	60646567	46397151	300	9776											
SIX1	0	.	GRCh38	chr14	60649013	60649013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctcacggaagttgccgcgGtggaaggcgaccaccgcctt	8	6	14	13	5	1	0	1	0	0	0	1	3	1	2	4	4	2	2	4	4	2	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.177C>A	p.His59Gln	p.H59Q	ENST00000247182	1/2	212	131	81	166	166	0	strelka-varscan-mutect	SIX1,missense_variant,p.His59Gln,ENST00000247182,NM_005982.3;SIX1,intron_variant,,ENST00000554986,;SIX1,intron_variant,,ENST00000553535,;SIX1,intron_variant,,ENST00000555955,;SIX1,downstream_gene_variant,,ENST00000555627,;	T	ENST00000247182	Transcript	missense_variant	450/3996	177/855	59/284	H/Q	caC/caA		1		-1	SIX1	HGNC	HGNC:10887	protein_coding	YES	CCDS9748.1	ENSP00000247182	Q15475		UPI00001359BA	NM_005982.3	deleterious(0.02)		1/2		Pfam_domain:PF16878,hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	60649013	60649013	G	T	1	0	0	0	0	1	0	0	0	14609	1252	44	2		2	SIX1	14	60649013	Missense_Mutation	SNP	G	C3L-02365_TP	2446	60649013	46394705	301	9777											
KCNH5	0	.	GRCh38	chr14	62987151	62987151	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaacacttcggctatttGtcaaagcccgtgtcaatcgg	11	10	9	11	3	2	0	2	0	0	0	4	0	2	0	1	2	2	2	1	2	5	3	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.470C>G	p.Thr157Arg	p.T157R	ENST00000322893	5/11	248	169	79	288	288	0	strelka-varscan-mutect	KCNH5,missense_variant,p.Thr157Arg,ENST00000322893,NM_139318.4;KCNH5,missense_variant,p.Thr157Arg,ENST00000420622,NM_172375.2;KCNH5,missense_variant,p.Thr99Arg,ENST00000394968,;KCNH5,non_coding_transcript_exon_variant,,ENST00000394964,;	C	ENST00000322893	Transcript	missense_variant	739/11290	470/2967	157/988	T/R	aCa/aGa		1		-1	KCNH5	HGNC	HGNC:6254	protein_coding	YES	CCDS9756.1	ENSP00000321427	Q8NCM2		UPI0000039E2D	NM_139318.4	deleterious(0.01)		5/11		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF533,Prints_domain:PR01464																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	62987151	62987151	G	C	1	0	0	0	0	1	0	0	0	7951	1377	48	4		4	KCNH5	14	62987151	Missense_Mutation	SNP	G	C3L-02365_TP	2338138	62987151	44056567	302	9778											
GPHN	0	.	GRCh38	chr14	67111870	67111870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttattatagggcactgaaGaacttgaagtgcgaattctg	12	13	11	5	1	1	3	0	2	1	1	1	4	1	3	0	1	2	2	0	1	7	5	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1423G>A	p.Glu475Lys	p.E475K	ENST00000478722	15/23	502	449	53	463	463	0	strelka-varscan-mutect	GPHN,missense_variant,p.Glu475Lys,ENST00000478722,NM_020806.4;GPHN,missense_variant,p.Glu442Lys,ENST00000315266,NM_001024218.1;GPHN,missense_variant,p.Glu488Lys,ENST00000543237,;GPHN,upstream_gene_variant,,ENST00000555503,;GPHN,non_coding_transcript_exon_variant,,ENST00000544752,;GPHN,upstream_gene_variant,,ENST00000555527,;GPHN,downstream_gene_variant,,ENST00000556501,;	A	ENST00000478722	Transcript	missense_variant	2544/4297	1423/2310	475/769	E/K	Gaa/Aaa		1		1	GPHN	HGNC	HGNC:15465	protein_coding	YES	CCDS9777.1	ENSP00000417901	Q9NQX3		UPI0000072592	NM_020806.4	deleterious(0)		15/23		Gene3D:2.170.190.11,Pfam_domain:PF03453,hmmpanther:PTHR10192,Superfamily_domains:SSF63882																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	67111870	67111870	G	A	1	0	0	0	0	1	0	0	0	6512	943	33	3		3	GPHN	14	67111870	Missense_Mutation	SNP	G	C3L-02365_TP	4124719	67111870	39931848	303	9779											
STON2	0	.	GRCh38	chr14	81396154	81396154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtctggggaagatgacagtCctgggaggtgctcttccgtg	6	10	17	8	1	2	2	0	1	2	1	4	4	4	4	2	5	1	1	2	5	1	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.113G>C	p.Gly38Ala	p.G38A	ENST00000555447	4/8	138	94	44	115	115	0	strelka-varscan-mutect	STON2,missense_variant,p.Gly38Ala,ENST00000555447,NM_001256430.1;STON2,missense_variant,p.Gly38Ala,ENST00000267540,NM_033104.3;STON2,missense_variant,p.Gly38Ala,ENST00000614646,;STON2,missense_variant,p.Gly38Ala,ENST00000557055,;STON2,downstream_gene_variant,,ENST00000554710,;STON2,non_coding_transcript_exon_variant,,ENST00000555226,;	G	ENST00000555447	Transcript	missense_variant	526/4302	113/2763	38/920	G/A	gGa/gCa		1		-1	STON2	HGNC	HGNC:30652	protein_coding	YES	CCDS58332.1	ENSP00000450857	Q8WXE9		UPI00001FD96B	NM_001256430.1	tolerated_low_confidence(0.28)		4/8		PIRSF_domain:PIRSF037099,Pfam_domain:PF12016																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	81396154	81396154	C	G	1	0	0	0	0	1	0	0	0	15696	855	30	4		4	STON2	14	81396154	Missense_Mutation	SNP	C	C3L-02365_TP	14284284	81396154	25647564	304	9780											
AHNAK2	0	.	GRCh38	chr14	104944665	104944665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagagacacctcgacatCggggactctcacttctgcct	8	8	11	14	2	2	1	1	0	2	1	5	4	2	2	2	3	1	1	2	3	0	1	rs371361988		C3L-02365_TP	C3L-02365_NB	C	C																c.10786G>T	p.Asp3596Tyr	p.D3596Y	ENST00000333244	7/7	464	297	167	408	407	1	strelka-varscan-mutect	AHNAK2,missense_variant,p.Asp3596Tyr,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	A	ENST00000333244	Transcript	missense_variant	10906/18254	10786/17388	3596/5795	D/Y	Gat/Tat	rs371361988	1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	deleterious(0)		7/7		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37																	MODERATE	1	SNV	5			1										PASS		rs371361988	.												A	3	1	34	104944665	104944665	C	A	1	0	0	0	0	1	0	0	0	492	884	31	1		1	AHNAK2	14	104944665	Missense_Mutation	SNP	C	C3L-02365_TP	23548511	104944665	2099053	305	9781											
JAG2	0	.	GRCh38	chr14	105148842	105148842	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgcggcagggctggccCaggcagtcgtcaatgtctgc	6	8	14	13	2	2	0	1	0	1	0	3	0	2	0	2	4	2	3	2	4	1	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1923G>T	p.=	p.L641L	ENST00000331782	15/26	783	511	272	474	474	0	strelka-varscan-mutect	JAG2,synonymous_variant,p.=,ENST00000331782,NM_002226.4;JAG2,synonymous_variant,p.=,ENST00000347004,NM_145159.2;MIR6765,downstream_gene_variant,,ENST00000614092,;RP11-44N21.4,downstream_gene_variant,,ENST00000548203,;JAG2,upstream_gene_variant,,ENST00000546616,;JAG2,upstream_gene_variant,,ENST00000553244,;JAG2,downstream_gene_variant,,ENST00000553051,;	A	ENST00000331782	Transcript	synonymous_variant	2327/5835	1923/3717	641/1238	L	ctG/ctT		1		-1	JAG2	HGNC	HGNC:6189	protein_coding	YES	CCDS9998.1	ENSP00000328169	Q9Y219		UPI0000167BD5	NM_002226.4			15/26		Gene3D:2gy5A03,Pfam_domain:PF00008,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF316,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	105148842	105148842	C	A	1	0	0	0	0	0	0	0	1	7848	581	21	2		2	JAG2	14	105148842	Silent	SNP	C	C3L-02365_TP	204177	105148842	1894876	306	9782											
B2M	0	.	GRCh38	chr15	44715686	44715686	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgactttgtcacagcccAagatagttaagtggggtaag	12	11	12	6	0	1	2	1	1	0	1	1	2	1	2	1	2	1	2	1	2	4	4	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.331A>T	p.Lys111Ter	p.K111*	ENST00000558401	2/4	260	171	89	289	288	1	strelka-varscan-mutect	B2M,stop_gained,p.Lys111Ter,ENST00000558401,NM_004048.2;B2M,stop_gained,p.Lys111Ter,ENST00000559916,;B2M,stop_gained,p.Lys93Ter,ENST00000544417,;B2M,non_coding_transcript_exon_variant,,ENST00000559907,;B2M,intron_variant,,ENST00000559220,;PATL2,upstream_gene_variant,,ENST00000558573,;B2M,upstream_gene_variant,,ENST00000560556,;B2M,stop_gained,p.Lys63Ter,ENST00000561139,;B2M,stop_gained,p.Lys111Ter,ENST00000561424,;B2M,3_prime_UTR_variant,,ENST00000349264,;B2M,3_prime_UTR_variant,,ENST00000557901,;B2M,non_coding_transcript_exon_variant,,ENST00000559720,;B2M,non_coding_transcript_exon_variant,,ENST00000560681,;B2M,downstream_gene_variant,,ENST00000632133,;B2M,upstream_gene_variant,,ENST00000623550,;	T	ENST00000558401	Transcript	stop_gained	401/1715	331/360	111/119	K/*	Aag/Tag		1		1	B2M	HGNC	HGNC:914	protein_coding	YES	CCDS10113.1	ENSP00000452780	P61769		UPI000000D892	NM_004048.2			2/4		PROSITE_profiles:PS50835,hmmpanther:PTHR19944:SF62,hmmpanther:PTHR19944,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	34	44715686	44715686	A	T	1	0	0	0	0	0	1	0	0	1401	131	5	4		4	B2M	15	44715686	Nonsense_Mutation	SNP	A	C3L-02365_TP		44715686	57275503	307	9783											
UNC13C	0	.	GRCh38	chr15	54014110	54014110	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactcaaaggaacaggcattGgaatctcaacagatattcta	17	9	7	8	0	3	1	2	0	2	1	4	3	3	3	0	3	3	1	0	3	7	4	rs144045439		C3L-02365_TP	C3L-02365_NB	G	G																c.1207G>T	p.Gly403Ter	p.G403*	ENST00000260323	1/32	171	97	74	185	184	1	strelka-varscan-mutect	UNC13C,stop_gained,p.Gly403Ter,ENST00000260323,NM_001080534.1;	T	ENST00000260323	Transcript	stop_gained	1207/12946	1207/6645	403/2214	G/*	Gga/Tga	rs144045439	1		1	UNC13C	HGNC	HGNC:23149	protein_coding	YES	CCDS45264.1	ENSP00000260323	Q8NB66		UPI0000DD82AB	NM_001080534.1			1/32		hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2																	HIGH	1	SNV	5			1										PASS		rs144045439	.												T	4	4	34	54014110	54014110	G	T	1	0	0	0	0	0	1	0	0	17510	1349	47	2		2	UNC13C	15	54014110	Nonsense_Mutation	SNP	G	C3L-02365_TP	9298424	54014110	47977079	308	9784											
UNC13C	0	.	GRCh38	chr15	54235109	54235109	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcctattgtccgagatgtgGtaagttacaactgtttaatt	10	16	9	6	1	0	1	0	0	0	1	1	2	1	1	2	1	3	3	2	1	5	7	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.3150+1G>T		p.X1050_splice	ENST00000260323		208	122	86	209	209	0	strelka-varscan-mutect	UNC13C,splice_donor_variant,,ENST00000260323,NM_001080534.1;	T	ENST00000260323	Transcript	splice_donor_variant	-/12946	3150/6645	1050/2214				1		1	UNC13C	HGNC	HGNC:23149	protein_coding	YES	CCDS45264.1	ENSP00000260323	Q8NB66		UPI0000DD82AB	NM_001080534.1				4/31																		HIGH	1	SNV	5			1										PASS		rs778962561	.												T	5	4	34	54235109	54235109	G	T	1	0	0	0	0	0	0	1	0	17510	1275	44	2		2	UNC13C	15	54235109	Splice_Site	SNP	G	C3L-02365_TP	220999	54235109	47756080	309	9785											
ADAMTS7	0	.	GRCh38	chr15	78771603	78771603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggatccagacaggctcCttggtgggacccggggacgt	7	7	15	12	2	0	1	0	0	0	1	2	4	2	4	4	6	0	1	4	6	0	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2358G>T	p.Lys786Asn	p.K786N	ENST00000388820	15/24	412	291	121	347	347	0	strelka-varscan-mutect	ADAMTS7,missense_variant,p.Lys786Asn,ENST00000388820,NM_014272.3;ADAMTS7,intron_variant,,ENST00000566303,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000565793,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000568712,;	A	ENST00000388820	Transcript	missense_variant	2569/5490	2358/5061	786/1686	K/N	aaG/aaT		1		-1	ADAMTS7	HGNC	HGNC:223	protein_coding	YES	CCDS32303.1	ENSP00000373472	Q9UKP4		UPI00002263B3	NM_014272.3	tolerated(0.51)		15/24		Pfam_domain:PF05986,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142																	MODERATE	1	SNV	1			1										PASS		rs927716529	.												A	3	1	34	78771603	78771603	C	A	1	0	0	0	0	1	0	0	0	315	680	24	2		2	ADAMTS7	15	78771603	Missense_Mutation	SNP	C	C3L-02365_TP	24536494	78771603	23219586	310	9786											
ADAMTSL3	0	.	GRCh38	chr15	83885171	83885171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcagtcatcagtggaGacaaactgacttctttccct	10	11	7	13	0	4	2	3	1	1	1	5	3	5	2	2	1	1	0	2	1	1	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1031G>T	p.Arg344Ile	p.R344I	ENST00000286744	10/30	392	189	203	369	369	0	strelka-varscan-mutect	ADAMTSL3,missense_variant,p.Arg344Ile,ENST00000286744,NM_207517.2;ADAMTSL3,missense_variant,p.Arg344Ile,ENST00000567476,NM_001301110.1;ADAMTSL3,intron_variant,,ENST00000567663,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,;	T	ENST00000286744	Transcript	missense_variant	1255/7336	1031/5076	344/1691	R/I	aGa/aTa		1		1	ADAMTSL3	HGNC	HGNC:14633	protein_coding	YES	CCDS10326.1	ENSP00000286744	P82987		UPI00001615A5	NM_207517.2	deleterious(0)		10/30		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF169,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	83885171	83885171	G	T	1	0	0	0	0	1	0	0	0	320	942	33	2		2	ADAMTSL3	15	83885171	Missense_Mutation	SNP	G	C3L-02365_TP	5113568	83885171	18106018	311	9787											
ZNF500	0	.	GRCh38	chr16	4760515	4760515	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctccagcggcgcgtccCgctgagctgggtccatgcat	5	9	12	15	4	1	1	0	1	1	0	4	1	3	1	3	2	3	3	3	2	0	1	rs561166954		C3L-02365_TP	C3L-02365_NB	C	C																c.737G>C	p.Arg246Pro	p.R246P	ENST00000219478	5/6	211	197	14	153	153	0	strelka-varscan-mutect	ZNF500,missense_variant,p.Arg246Pro,ENST00000219478,NM_021646.2;ZNF500,missense_variant,p.Arg246Pro,ENST00000545009,NM_001303450.1;ZNF500,upstream_gene_variant,,ENST00000592425,;Metazoa_SRP,downstream_gene_variant,,ENST00000622471,;ZNF500,3_prime_UTR_variant,,ENST00000589422,;	G	ENST00000219478	Transcript	missense_variant	1037/5880	737/1443	246/480	R/P	cGg/cCg	rs561166954	1		-1	ZNF500	HGNC	HGNC:23716	protein_coding	YES	CCDS32383.1	ENSP00000219478	O60304		UPI00001C1FB0	NM_021646.2	deleterious(0.01)		5/6		Superfamily_domains:0044637,Pfam_domain:PF01352,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF74																	MODERATE	1	SNV	2			1										PASS		rs561166954	.												G	3	3	34	4760515	4760515	C	G	1	0	0	0	0	1	0	0	0	18520	652	23	4		4	ZNF500	16	4760515	Missense_Mutation	SNP	C	C3L-02365_TP		4760515	85577830	312	9788											
PDXDC1	0	.	GRCh38	chr16	15030032	15030032	+	Missense_Mutation	SNP	T	T	G																															ctgagggcacgtgtttgcggTtcagccctttgatgaccgca																								novel		C3L-02365_TP	C3L-02365_NB	T	T																c.1375T>G	p.Phe459Val	p.F459V	ENST00000396410	16/23	276	259	17	226	226	0	varscan-mutect	PDXDC1,missense_variant,p.Phe459Val,ENST00000396410,NM_001324019.1,NM_015027.3;PDXDC1,missense_variant,p.Phe368Val,ENST00000450288,NM_001285448.1;PDXDC1,missense_variant,p.Phe432Val,ENST00000569715,NM_001285444.1;PDXDC1,missense_variant,p.Phe477Val,ENST00000563679,NM_001285447.1;PDXDC1,missense_variant,p.Phe431Val,ENST00000627450,NM_001285445.1;PDXDC1,missense_variant,p.Phe459Val,ENST00000535621,NM_001324020.1,NM_001285449.1;PDXDC1,downstream_gene_variant,,ENST00000455313,NM_001285450.1;PDXDC1,non_coding_transcript_exon_variant,,ENST00000570001,;PDXDC1,non_coding_transcript_exon_variant,,ENST00000566633,;PDXDC1,intron_variant,,ENST00000562119,;PDXDC1,upstream_gene_variant,,ENST00000565986,;	G	ENST00000396410	Transcript	missense_variant	1472/4521	1375/2367	459/788	F/V	Ttc/Gtc		1		1	PDXDC1	HGNC	HGNC:28995	protein_coding	YES	CCDS32393.1	ENSP00000379691	Q6P996		UPI000004A864	NM_001324019.1,NM_015027.3	deleterious(0.01)		16/23		hmmpanther:PTHR11999:SF108,hmmpanther:PTHR11999,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	15030032	15030032	T	G	1	0	0	0	0	1	0	0	0	11784	1725	60	5		5	PDXDC1	16	15030032	Missense_Mutation	SNP	T	C3L-02365_TP	10269517	15030032	75308313	313	9789	226	2									
PDXDC1	0	.	GRCh38	chr16	15030035	15030035	+	Missense_Mutation	SNP	A	A	G																															agggcacgtgtttgcggttcAgccctttgatgaccgcagca																								novel		C3L-02365_TP	C3L-02365_NB	A	A																c.1378A>G	p.Ser460Gly	p.S460G	ENST00000396410	16/23	271	254	17	218	218	0	varscan-mutect	PDXDC1,missense_variant,p.Ser460Gly,ENST00000396410,NM_001324019.1,NM_015027.3;PDXDC1,missense_variant,p.Ser369Gly,ENST00000450288,NM_001285448.1;PDXDC1,missense_variant,p.Ser433Gly,ENST00000569715,NM_001285444.1;PDXDC1,missense_variant,p.Ser478Gly,ENST00000563679,NM_001285447.1;PDXDC1,missense_variant,p.Ser432Gly,ENST00000627450,NM_001285445.1;PDXDC1,missense_variant,p.Ser460Gly,ENST00000535621,NM_001324020.1,NM_001285449.1;PDXDC1,downstream_gene_variant,,ENST00000455313,NM_001285450.1;PDXDC1,non_coding_transcript_exon_variant,,ENST00000570001,;PDXDC1,non_coding_transcript_exon_variant,,ENST00000566633,;PDXDC1,intron_variant,,ENST00000562119,;PDXDC1,upstream_gene_variant,,ENST00000565986,;	G	ENST00000396410	Transcript	missense_variant	1475/4521	1378/2367	460/788	S/G	Agc/Ggc		1		1	PDXDC1	HGNC	HGNC:28995	protein_coding	YES	CCDS32393.1	ENSP00000379691	Q6P996		UPI000004A864	NM_001324019.1,NM_015027.3	deleterious(0.05)		16/23		hmmpanther:PTHR11999:SF108,hmmpanther:PTHR11999,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	15030035	15030035	A	G	1	0	0	0	0	1	0	0	0	11784	188	7	5		5	PDXDC1	16	15030035	Missense_Mutation	SNP	A	C3L-02365_TP	3	15030035	75308310	314	9790	226	2									
NPIPA5	0	.	GRCh38	chr16	15365344	15365350	+	Frame_Shift_Del	DEL	GAGCACA	GAGCACA	-																															catctccctctgcagggcttGagcacagagccgtagggaga																								novel		C3L-02365_TP	C3L-02365_NB	GAGCACA	GAGCACA																c.778_784delTGTGCTC	p.Cys260LysfsTer43	p.C260Kfs*43	ENST00000534094	7/7	108	96	12	104	104	0	sindel-varindel	NPIPA5,frameshift_variant,p.Cys260LysfsTer43,ENST00000534094,;NPIPA5,intron_variant,,ENST00000360151,NM_001277325.1;NPIPA5,intron_variant,,ENST00000543801,;RP11-72I8.2,downstream_gene_variant,,ENST00000611162,;	-	ENST00000534094	Transcript	frameshift_variant	778-784/954	778-784/954	260-262/317	CAQ/X	TGTGCTCaa/aa		1		-1	NPIPA5	HGNC	HGNC:41980	protein_coding			ENSP00000435611		E9PJ88	UPI0001A5E893				7/7		hmmpanther:PTHR15438																	HIGH		deletion	5			1										PASS		.	.												-	7	5	34	15365344	15365344	GAGCACA	-	1	0	1	0	1	0	0	0	0	10634	1299	45	0		0	NPIPA5	16	15365344	Frame_Shift_Del	DEL	GAGCACA	C3L-02365_TP	335309	15365344	74973001	315	9791											
DNAH3	0	.	GRCh38	chr16	20982851	20982851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgaagggaacatccgcaGgcggttcctgaaggcatccc	10	5	13	13	3	0	1	0	1	0	0	3	3	3	2	3	4	2	3	3	4	3	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.7729C>A	p.Leu2577Met	p.L2577M	ENST00000261383	49/62	228	179	49	210	210	0	strelka-varscan-mutect	DNAH3,missense_variant,p.Leu2577Met,ENST00000261383,NM_017539.2;	T	ENST00000261383	Transcript	missense_variant	7729/12394	7729/12351	2577/4116	L/M	Ctg/Atg		1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2	deleterious(0)		49/62		hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF12780,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	20982851	20982851	G	T	1	0	0	0	0	1	0	0	0	4418	991	35	2		2	DNAH3	16	20982851	Missense_Mutation	SNP	G	C3L-02365_TP	5617507	20982851	69355494	316	9792											
XPO6	0	.	GRCh38	chr16	28111988	28111988	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatgttagagagggctcGgcacaccaacacctgggcct	11	6	12	12	1	0	2	0	0	0	2	1	3	0	2	3	3	1	3	3	3	3	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.2170C>T	p.Arg724Ter	p.R724*	ENST00000304658	17/24	139	126	13	110	110	0	strelka-varscan-mutect	XPO6,stop_gained,p.Arg724Ter,ENST00000304658,NM_015171.3;XPO6,stop_gained,p.Arg710Ter,ENST00000565698,NM_001270940.1;XPO6,upstream_gene_variant,,ENST00000573275,;XPO6,intron_variant,,ENST00000569216,;XPO6,3_prime_UTR_variant,,ENST00000564905,;TPRKBP2,upstream_gene_variant,,ENST00000565969,;	A	ENST00000304658	Transcript	stop_gained	2671/4422	2170/3378	724/1125	R/*	Cga/Tga		1		-1	XPO6	HGNC	HGNC:19733	protein_coding	YES	CCDS42135.1	ENSP00000302790	Q96QU8		UPI000006F228	NM_015171.3			17/24		hmmpanther:PTHR21452,Superfamily_domains:SSF48371																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	34	28111988	28111988	G	A	1	0	0	0	0	0	1	0	0	18007	1124	39	1		1	XPO6	16	28111988	Nonsense_Mutation	SNP	G	C3L-02365_TP	7129137	28111988	62226357	317	9793											
SPNS1	0	.	GRCh38	chr16	28984257	28984257	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggattgtggtgccccagcgGggccgctccacccgcgtgcc	3	6	15	17	5	0	0	0	0	0	0	1	1	1	1	6	4	3	1	6	4	0	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1545G>T	p.=	p.R515R	ENST00000311008	12/12	122	94	28	116	116	0	strelka-varscan-mutect	SPNS1,missense_variant,p.Gly452Val,ENST00000566059,;SPNS1,synonymous_variant,p.=,ENST00000311008,NM_001142448.1,NM_032038.2;SPNS1,synonymous_variant,p.=,ENST00000323081,NM_001142450.1;SPNS1,synonymous_variant,p.=,ENST00000334536,NM_001142451.1;SPNS1,synonymous_variant,p.=,ENST00000565975,;SPNS1,synonymous_variant,p.=,ENST00000352260,NM_001142449.1;SPNS1,synonymous_variant,p.=,ENST00000568829,;LAT,upstream_gene_variant,,ENST00000395456,NM_001014987.1;LAT,upstream_gene_variant,,ENST00000360872,NM_014387.3;LAT,upstream_gene_variant,,ENST00000395461,NM_001014989.1;LAT,upstream_gene_variant,,ENST00000454369,NM_001014988.1;LAT,upstream_gene_variant,,ENST00000564277,;SPNS1,downstream_gene_variant,,ENST00000564476,;LAT,upstream_gene_variant,,ENST00000566177,;SPNS1,downstream_gene_variant,,ENST00000568388,;LAT,upstream_gene_variant,,ENST00000570232,;LAT,upstream_gene_variant,,ENST00000630764,;RP11-264B17.5,downstream_gene_variant,,ENST00000561471,;RP11-264B17.3,upstream_gene_variant,,ENST00000354453,;LAT,upstream_gene_variant,,ENST00000563964,;SPNS1,downstream_gene_variant,,ENST00000561868,;RP11-264B17.3,non_coding_transcript_exon_variant,,ENST00000569969,;LAT,upstream_gene_variant,,ENST00000564447,;SPNS1,downstream_gene_variant,,ENST00000568900,;LAT,upstream_gene_variant,,ENST00000566270,;LAT,upstream_gene_variant,,ENST00000562701,;LAT,upstream_gene_variant,,ENST00000568899,;LAT,upstream_gene_variant,,ENST00000562472,;LAT,upstream_gene_variant,,ENST00000568440,;	T	ENST00000311008	Transcript	synonymous_variant	1922/2208	1545/1587	515/528	R	cgG/cgT		1		1	SPNS1	HGNC	HGNC:30621	protein_coding	YES	CCDS10646.1	ENSP00000309945	Q9H2V7		UPI000004DB99	NM_001142448.1,NM_032038.2			12/12		hmmpanther:PTHR23505,hmmpanther:PTHR23505:SF13																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	34	28984257	28984257	G	T	1	0	0	0	0	0	0	0	1	15427	1219	43	2		2	SPNS1	16	28984257	Silent	SNP	G	C3L-02365_TP	872269	28984257	61354088	318	9794											
ZNF785	0	.	GRCh38	chr16	30583011	30583011	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgcagtctgagcacgcgTaaggcttctccccggtgtga	6	11	12	12	3	3	2	0	2	3	0	4	2	3	2	2	2	2	4	2	2	1	3	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.767A>T	p.Tyr256Phe	p.Y256F	ENST00000395216	3/3	516	400	116	442	442	0	strelka-varscan-mutect	ZNF785,missense_variant,p.Tyr256Phe,ENST00000395216,NM_152458.6;ZNF785,missense_variant,p.Tyr241Phe,ENST00000470110,;ZNF785,downstream_gene_variant,,ENST00000567773,;AC002310.7,non_coding_transcript_exon_variant,,ENST00000492040,;AC002310.7,downstream_gene_variant,,ENST00000486926,;RP11-146F11.5,upstream_gene_variant,,ENST00000563540,;ZNF785,upstream_gene_variant,,ENST00000562128,;AC002310.17,downstream_gene_variant,,ENST00000564755,;	A	ENST00000395216	Transcript	missense_variant	927/3282	767/1218	256/405	Y/F	tAc/tTc		1		-1	ZNF785	HGNC	HGNC:26496	protein_coding	YES	CCDS10685.1	ENSP00000378642	A8K8V0	A0A024QZC7	UPI0000074535	NM_152458.6	tolerated(0.05)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF130,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1177694960	.												A	3	1	34	30583011	30583011	T	A	1	0	0	0	0	1	0	0	0	18741	1638	57	4		4	ZNF785	16	30583011	Missense_Mutation	SNP	T	C3L-02365_TP	1598754	30583011	59755334	319	9795											
ITGAM	0	.	GRCh38	chr16	31261699	31261699	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attctccctttagccttgacCttatgtcatgggttcaactt	7	17	6	11	0	3	1	2	1	1	0	4	1	3	1	3	1	2	1	3	1	3	7	rs769239433		C3L-02365_TP	C3L-02365_NB	C	C																c.36C>A	p.=	p.T12T	ENST00000544665	2/30	165	131	34	162	162	0	strelka-varscan-mutect	ITGAM,synonymous_variant,p.=,ENST00000544665,NM_001145808.1;ITGAM,synonymous_variant,p.=,ENST00000287497,NM_000632.3;	A	ENST00000544665	Transcript	synonymous_variant	107/4718	36/3462	12/1153	T	acC/acA	rs769239433	1		1	ITGAM	HGNC	HGNC:6149	protein_coding	YES	CCDS54004.1	ENSP00000441691	P11215		UPI000004B26A	NM_001145808.1			2/30		hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		rs769239433	.												A	2	1	34	31261699	31261699	C	A	1	0	0	0	0	0	0	0	1	7794	668	24	2		2	ITGAM	16	31261699	Silent	SNP	C	C3L-02365_TP	678688	31261699	59076646	320	9796											
SALL1	0	.	GRCh38	chr16	51140647	51140647	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacatgccatatgggatGccagtactcgtggggatatt	10	11	13	7	1	0	0	0	0	0	0	1	3	0	3	2	4	3	1	2	4	3	4	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1575C>T	p.=	p.G525G	ENST00000251020	2/3	193	152	41	180	180	0	strelka-varscan-mutect	SALL1,synonymous_variant,p.=,ENST00000440970,NM_001127892.1;SALL1,synonymous_variant,p.=,ENST00000251020,NM_002968.2;SALL1,synonymous_variant,p.=,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	A	ENST00000251020	Transcript	synonymous_variant	1609/5146	1575/3975	525/1324	G	ggC/ggT		1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2			2/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	51140647	51140647	G	A	1	0	0	0	0	0	0	0	1	14069	1306	46	3		3	SALL1	16	51140647	Silent	SNP	G	C3L-02365_TP	19878948	51140647	39197698	321	9797											
IRX3	0	.	GRCh38	chr16	54284974	54284974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcaggaccggtagtggccGgtcctctaagccctcagagc	8	7	12	14	2	3	1	2	0	1	1	4	2	4	2	4	4	2	1	4	4	2	2	rs759825805		C3L-02365_TP	C3L-02365_NB	G	G																c.907C>T	p.Arg303Trp	p.R303W	ENST00000329734	2/4	150	121	29	159	159	0	strelka-varscan-mutect	IRX3,missense_variant,p.Arg303Trp,ENST00000329734,NM_024336.2;IRX3,intron_variant,,ENST00000558054,;RP11-434E6.5,upstream_gene_variant,,ENST00000637770,;IRX3,non_coding_transcript_exon_variant,,ENST00000558180,;	A	ENST00000329734	Transcript	missense_variant	1620/2601	907/1506	303/501	R/W	Cgg/Tgg	rs759825805	1		-1	IRX3	HGNC	HGNC:14360	protein_coding	YES	CCDS10750.1	ENSP00000331608	P78415		UPI000019745F	NM_024336.2	deleterious(0)		2/4		hmmpanther:PTHR11211:SF14,hmmpanther:PTHR11211																	MODERATE	1	SNV	1			1										PASS		rs759825805	.												A	3	1	34	54284974	54284974	G	A	1	0	0	0	0	1	0	0	0	7753	1115	39	1		1	IRX3	16	54284974	Missense_Mutation	SNP	G	C3L-02365_TP	3144327	54284974	36053371	322	9798											
EXOC3L1	0	.	GRCh38	chr16	67187360	67187360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccatagctggaccacgttgTactgtggcgggcagcaaggc	8	7	14	12	2	0	0	0	0	0	0	0	1	0	1	2	4	3	5	2	4	3	3	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.905A>G	p.Tyr302Cys	p.Y302C	ENST00000314586	5/14	277	183	94	213	213	0	strelka-varscan-mutect	EXOC3L1,missense_variant,p.Tyr302Cys,ENST00000314586,NM_178516.3;EXOC3L1,missense_variant,p.Tyr241Cys,ENST00000545725,;EXOC3L1,missense_variant,p.Tyr246Cys,ENST00000563889,;KIAA0895L,upstream_gene_variant,,ENST00000290881,;KIAA0895L,upstream_gene_variant,,ENST00000561621,;KIAA0895L,upstream_gene_variant,,ENST00000563902,NM_001040715.1;E2F4,upstream_gene_variant,,ENST00000379378,NM_001950.3;EXOC3L1,downstream_gene_variant,,ENST00000564418,;EXOC3L1,intron_variant,,ENST00000562887,;KIAA0895L,upstream_gene_variant,,ENST00000563831,;KIAA0895L,upstream_gene_variant,,ENST00000564423,;EXOC3L1,intron_variant,,ENST00000564324,;E2F4,upstream_gene_variant,,ENST00000567007,;E2F4,upstream_gene_variant,,ENST00000568839,;E2F4,upstream_gene_variant,,ENST00000561904,;E2F4,upstream_gene_variant,,ENST00000569573,;EXOC3L1,upstream_gene_variant,,ENST00000563536,;E2F4,upstream_gene_variant,,ENST00000563238,;E2F4,upstream_gene_variant,,ENST00000568485,;E2F4,upstream_gene_variant,,ENST00000565849,;	C	ENST00000314586	Transcript	missense_variant	1146/2510	905/2241	302/746	Y/C	tAc/tGc		1		-1	EXOC3L1	HGNC	HGNC:27540	protein_coding	YES	CCDS10832.1	ENSP00000325674	Q86VI1	A0A024R6U6	UPI000013F886	NM_178516.3	deleterious(0)		5/14		hmmpanther:PTHR21292:SF12,hmmpanther:PTHR21292,Pfam_domain:PF06046																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	34	67187360	67187360	T	C	1	0	0	0	0	1	0	0	0	5171	1638	57	5		5	EXOC3L1	16	67187360	Missense_Mutation	SNP	T	C3L-02365_TP	12902386	67187360	23150985	323	9799											
CHST5	0	.	GRCh38	chr16	75529945	75529945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgagcacagcgcgcggctcGttgcccagttgaaaaaggcg	9	5	15	12	6	0	1	0	1	0	0	1	2	0	1	1	2	3	4	1	2	2	2	rs535515522		C3L-02365_TP	C3L-02365_NB	G	G																c.440C>T	p.Thr147Met	p.T147M	ENST00000336257	3/3	356	190	166	322	322	0	strelka-varscan-mutect	CHST5,missense_variant,p.Thr147Met,ENST00000336257,NM_024533.4;CHST5,downstream_gene_variant,,ENST00000565039,;RP11-77K12.7,3_prime_UTR_variant,,ENST00000460606,;	A	ENST00000336257	Transcript	missense_variant	1835/3245	440/1236	147/411	T/M	aCg/aTg	rs535515522	1		-1	CHST5	HGNC	HGNC:1973	protein_coding	YES	CCDS10919.1	ENSP00000338783	Q9GZS9		UPI000006EAEA	NM_024533.4	tolerated(0.13)		3/3		Pfam_domain:PF00685,PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF13																	MODERATE	1	SNV	1			1										PASS		rs535515522	.												A	3	1	34	75529945	75529945	G	A	1	0	0	0	0	1	0	0	0	3167	1145	40	1		1	CHST5	16	75529945	Missense_Mutation	SNP	G	C3L-02365_TP	8342585	75529945	14808400	324	9800											
CPNE7	0	.	GRCh38	chr16	89583464	89583464	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtatgatgacctctgcctccCctgggcgactgctggcgccg	4	9	13	15	3	1	2	0	2	1	0	2	3	2	2	5	2	2	2	5	2	1	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.518C>G	p.Pro173Arg	p.P173R	ENST00000268720	4/17	331	177	154	281	281	0	strelka-varscan-mutect	CPNE7,missense_variant,p.Pro173Arg,ENST00000268720,NM_014427.4;CPNE7,intron_variant,,ENST00000319518,NM_153636.2;CPNE7,upstream_gene_variant,,ENST00000529800,;CPNE7,3_prime_UTR_variant,,ENST00000525982,;CPNE7,upstream_gene_variant,,ENST00000532500,;	G	ENST00000268720	Transcript	missense_variant	648/2657	518/1902	173/633	P/R	cCc/cGc		1		1	CPNE7	HGNC	HGNC:2320	protein_coding	YES	CCDS10980.1	ENSP00000268720	Q9UBL6		UPI0000127C17	NM_014427.4	tolerated_low_confidence(0.32)		4/17																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	89583464	89583464	C	G	1	0	0	0	0	1	0	0	0	3612	623	22	4		4	CPNE7	16	89583464	Missense_Mutation	SNP	C	C3L-02365_TP	14053519	89583464	754881	325	9801											
RPA1	0	.	GRCh38	chr17	1879641	1879641	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagaagttgccaagaggaAtatctacttgatggacacat	15	9	10	7	0	1	3	0	1	1	2	1	6	1	5	1	2	2	1	1	2	5	4	rs759379338		C3L-02365_TP	C3L-02365_NB	A	A																c.1034A>G	p.Asn345Ser	p.N345S	ENST00000254719	11/17	254	239	15	251	251	0	strelka-varscan-mutect	RPA1,missense_variant,p.Asn345Ser,ENST00000254719,NM_002945.3;RPA1,missense_variant,p.Asn101Ser,ENST00000574049,;RPA1,downstream_gene_variant,,ENST00000570451,;RPA1,downstream_gene_variant,,ENST00000573924,;	G	ENST00000254719	Transcript	missense_variant	1144/4340	1034/1851	345/616	N/S	aAt/aGt	rs759379338	1		1	RPA1	HGNC	HGNC:10289	protein_coding	YES	CCDS11014.1	ENSP00000254719	P27694		UPI000013379A	NM_002945.3	tolerated(0.22)		11/17		hmmpanther:PTHR23273,hmmpanther:PTHR23273:SF6,Gene3D:2.40.50.140,TIGRFAM_domain:TIGR00617,Pfam_domain:PF16900,Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1										PASS		rs759379338	.												G	3	3	34	1879641	1879641	A	G	1	0	0	0	0	1	0	0	0	13788	101	4	5		5	RPA1	17	1879641	Missense_Mutation	SNP	A	C3L-02365_TP		1879641	81377800	326	9802											
ZNF594	0	.	GRCh38	chr17	5183462	5183462	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtcataacattcatagggTttctctccagtgtgaattct	10	15	7	9	0	4	1	2	1	2	0	6	1	5	1	1	1	1	1	1	1	3	5	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.795A>C	p.Lys265Asn	p.K265N	ENST00000399604	1/1	187	167	20	218	218	0	strelka-varscan-mutect	ZNF594,missense_variant,p.Lys265Asn,ENST00000399604,;ZNF594,missense_variant,p.Lys265Asn,ENST00000575779,NM_032530.1;ZNF594,downstream_gene_variant,,ENST00000576772,;	G	ENST00000399604	Transcript	missense_variant	936/4862	795/2424	265/807	K/N	aaA/aaC		1		-1	ZNF594	HGNC	HGNC:29392	protein_coding	YES	CCDS42241.1	ENSP00000382513	Q96JF6		UPI00001C1FDF		deleterious(0)		1/1		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF155,Superfamily_domains:SSF57667																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	34	5183462	5183462	T	G	1	0	0	0	0	1	0	0	0	18599	1722	60	5		5	ZNF594	17	5183462	Missense_Mutation	SNP	T	C3L-02365_TP	3303821	5183462	78073979	327	9803											
TP53	0	.	GRCh38	chr17	7674887	7674887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatagggcaccaccacaCtatgtcgaaaagtgtttctg	11	10	9	11	1	2	0	1	0	1	0	3	1	2	0	2	1	0	3	2	1	4	3	rs587782177		C3L-02365_TP	C3L-02365_NB	C	C																c.644G>T	p.Ser215Ile	p.S215I	ENST00000269305	6/11	502	274	228	459	458	1	strelka-varscan-mutect	TP53,missense_variant,p.Ser215Ile,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Ser215Ile,ENST00000420246,;TP53,missense_variant,p.Ser176Ile,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Ser176Ile,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Ser215Ile,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Ser176Ile,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Ser215Ile,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Ser176Ile,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Ser215Ile,ENST00000445888,;TP53,missense_variant,p.Ser176Ile,ENST00000619485,;TP53,missense_variant,p.Ser83Ile,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Ser56Ile,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Ser83Ile,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Ser56Ile,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Ser83Ile,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Ser56Ile,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Ser215Ile,ENST00000359597,;TP53,missense_variant,p.Ser204Ile,ENST00000615910,;TP53,missense_variant,p.Ser215Ile,ENST00000413465,;TP53,missense_variant,p.Ser83Ile,ENST00000509690,;TP53,missense_variant,p.Ser122Ile,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,missense_variant,p.Ser176Ile,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	834/2579	644/1182	215/393	S/I	aGt/aTt	rs587782177,TP53_g.12713G>A,TP53_g.12713G>T,TP53_g.12713del,TP53_g.12713G>C,COSM11450,COSM2744738,COSM2744739,COSM308327,COSM308328,COSM308329,COSM308330,COSM326719,COSM326720,COSM326721,COSM326722,COSM4271853,COSM4271854,COSM44093,COSM44175,COSM44887	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		6/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										uncertain_significance	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs587782177	.												A	3	1	34	7674887	7674887	C	A	1	0	0	0	0	1	0	0	0	16859	565	20	2		2	TP53	17	7674887	Missense_Mutation	SNP	C	C3L-02365_TP	2491425	7674887	75582554	328	9804											
MYH4	0	.	GRCh38	chr17	10457440	10457440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcttcagcagtttgtgccCcagagaagaggaaagccaga	12	7	12	10	0	1	3	1	0	0	3	1	5	1	4	3	1	4	3	3	1	2	2	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1877G>T	p.Gly626Val	p.G626V	ENST00000255381	16/40	74	54	20	87	87	0	strelka-varscan-mutect	MYH4,missense_variant,p.Gly626Val,ENST00000255381,NM_017533.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000255381	Transcript	missense_variant	1988/6016	1877/5820	626/1939	G/V	gGg/gTg		1		-1	MYH4	HGNC	HGNC:7574	protein_coding	YES	CCDS11154.1	ENSP00000255381	Q9Y623		UPI000013CEAB	NM_017533.2	tolerated(0.06)		16/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF271,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	10457440	10457440	C	A	1	0	0	0	0	1	0	0	0	10037	623	22	2		2	MYH4	17	10457440	Missense_Mutation	SNP	C	C3L-02365_TP	2782553	10457440	72800001	329	9805											
DNAH9	0	.	GRCh38	chr17	11742174	11742174	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtctttctatactcaGgccttgtgcaatggtggttc	5	17	9	10	0	4	0	1	0	3	0	5	0	4	0	1	3	2	2	1	3	3	6	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.5973-1G>T		p.X1991_splice	ENST00000262442		129	106	23	109	109	0	strelka-varscan-mutect	DNAH9,splice_acceptor_variant,,ENST00000262442,NM_001372.3;DNAH9,splice_acceptor_variant,,ENST00000454412,;	T	ENST00000262442	Transcript	splice_acceptor_variant	-/13750	5973/13461	1991/4486				1		1	DNAH9	HGNC	HGNC:2953	protein_coding	YES	CCDS11160.1	ENSP00000262442	Q9NYC9		UPI0000141BA2	NM_001372.3				29/68																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	34	11742174	11742174	G	T	1	0	0	0	0	0	0	1	0	4423	1014	35	2		2	DNAH9	17	11742174	Splice_Site	SNP	G	C3L-02365_TP	1284734	11742174	71515267	330	9806											
DNAH9	0	.	GRCh38	chr17	11807733	11807733	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttccttctctttagcTgccatatcaatcgcatcttg	6	16	5	14	1	3	0	1	0	2	0	6	0	4	0	3	0	3	3	3	0	3	6	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.8422T>A	p.Cys2808Ser	p.C2808S	ENST00000262442	44/69	83	70	13	57	57	0	strelka-varscan-mutect	DNAH9,missense_variant,p.Cys2808Ser,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Cys2808Ser,ENST00000454412,;	A	ENST00000262442	Transcript	missense_variant,splice_region_variant	8490/13750	8422/13461	2808/4486	C/S	Tgc/Agc		1		1	DNAH9	HGNC	HGNC:2953	protein_coding	YES	CCDS11160.1	ENSP00000262442	Q9NYC9		UPI0000141BA2	NM_001372.3	deleterious(0.01)		44/69		Gene3D:3.40.50.300,Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	11807733	11807733	T	A	1	0	0	0	0	1	0	0	0	4423	1594	55	4		4	DNAH9	17	11807733	Missense_Mutation	SNP	T	C3L-02365_TP	65559	11807733	71449708	331	9807											
HS3ST3A1	0	.	GRCh38	chr17	13600692	13600692	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctgcttgctgccttcGtccaggagcagcgccagggt	5	8	15	13	2	0	0	0	0	0	0	2	1	1	1	3	3	6	5	3	3	0	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.438C>T	p.=	p.D146D	ENST00000284110	1/2	220	175	45	172	172	0	strelka-varscan-mutect	HS3ST3A1,synonymous_variant,p.=,ENST00000284110,NM_006042.2;	A	ENST00000284110	Transcript	synonymous_variant	1236/2527	438/1221	146/406	D	gaC/gaT		1		-1	HS3ST3A1	HGNC	HGNC:5196	protein_coding	YES	CCDS11165.1	ENSP00000284110	Q9Y663		UPI000000DAA6	NM_006042.2			1/2		Gene3D:3.40.50.300,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF47,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	13600692	13600692	G	A	1	0	0	0	0	0	0	0	1	7259	1136	40	1		1	HS3ST3A1	17	13600692	Silent	SNP	G	C3L-02365_TP	1792959	13600692	69656749	332	9808											
PIPOX	0	.	GRCh38	chr17	29054595	29054595	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatggttcctgggagctaTggtgtgtcccaggcctttcc	5	12	14	10	0	0	1	0	0	0	1	3	3	3	2	4	4	1	2	4	4	1	3	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.711T>C	p.=	p.Y237Y	ENST00000323372	5/8	282	232	50	207	207	0	strelka-varscan-mutect	PIPOX,synonymous_variant,p.=,ENST00000323372,NM_016518.2;PIPOX,synonymous_variant,p.=,ENST00000469082,;PIPOX,downstream_gene_variant,,ENST00000466889,;PIPOX,non_coding_transcript_exon_variant,,ENST00000583215,;PIPOX,non_coding_transcript_exon_variant,,ENST00000580241,;PIPOX,non_coding_transcript_exon_variant,,ENST00000484308,;PIPOX,downstream_gene_variant,,ENST00000577182,;PIPOX,downstream_gene_variant,,ENST00000580383,;PIPOX,downstream_gene_variant,,ENST00000419875,;	C	ENST00000323372	Transcript	synonymous_variant	1037/2414	711/1173	237/390	Y	taT/taC		1		1	PIPOX	HGNC	HGNC:17804	protein_coding	YES	CCDS11248.1	ENSP00000317721	Q9P0Z9		UPI00001410B0	NM_016518.2			5/8		hmmpanther:PTHR10961,hmmpanther:PTHR10961:SF7,Gene3D:3.30.9.10,TIGRFAM_domain:TIGR01377,Pfam_domain:PF01266,Superfamily_domains:SSF54373																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	34	29054595	29054595	T	C	1	0	0	0	0	0	0	0	1	12038	1471	51	5		5	PIPOX	17	29054595	Silent	SNP	T	C3L-02365_TP	15453903	29054595	54202846	333	9809											
NSRP1	0	.	GRCh38	chr17	30184769	30184769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctaagagcagtgcggatGatgaaatagaagaaactaga	18	7	12	4	1	0	6	0	2	0	4	0	7	0	7	0	1	4	2	0	1	6	3	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.772G>T	p.Asp258Tyr	p.D258Y	ENST00000247026	7/7	161	140	21	199	199	0	strelka-varscan-mutect	NSRP1,missense_variant,p.Asp258Tyr,ENST00000247026,NM_032141.3;NSRP1,missense_variant,p.Asp204Tyr,ENST00000612959,NM_001261467.1;NSRP1,downstream_gene_variant,,ENST00000580103,;NSRP1,non_coding_transcript_exon_variant,,ENST00000540900,;NSRP1,downstream_gene_variant,,ENST00000577289,;NSRP1,3_prime_UTR_variant,,ENST00000394826,;NSRP1,3_prime_UTR_variant,,ENST00000475652,;	T	ENST00000247026	Transcript	missense_variant	835/2541	772/1677	258/558	D/Y	Gat/Tat		1		1	NSRP1	HGNC	HGNC:25305	protein_coding	YES	CCDS11255.1	ENSP00000247026	Q9H0G5		UPI000006E653	NM_032141.3	deleterious(0)		7/7		hmmpanther:PTHR31938,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	30184769	30184769	G	T	1	0	0	0	0	1	0	0	0	10740	1290	45	2		2	NSRP1	17	30184769	Missense_Mutation	SNP	G	C3L-02365_TP	1130174	30184769	53072672	334	9810											
KRT24	0	.	GRCh38	chr17	40703578	40703578	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcggaagccctgggccGagctgccccccagaccacat	7	5	10	19	2	0	1	0	0	0	1	2	3	1	2	7	2	3	1	7	2	1	0	rs141408122,rs745930893		C3L-02365_TP	C3L-02365_NB	G	G																c.116C>A	p.Ser39Ter	p.S39*	ENST00000264651	1/8	169	142	27	129	129	0	strelka-varscan-mutect	KRT24,stop_gained,p.Ser39Ter,ENST00000264651,NM_019016.2;	T	ENST00000264651	Transcript	stop_gained	173/1881	116/1578	39/525	S/*	tCg/tAg	rs141408122,rs745930893	1		-1	KRT24	HGNC	HGNC:18527	protein_coding	YES	CCDS11372.1	ENSP00000264651	Q2M2I5		UPI000013D54D	NM_019016.2			1/8		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF207,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		rs141408122	.												T	4	4	34	40703578	40703578	G	T	1	0	0	0	0	0	1	0	0	8343	1059	37	1		1	KRT24	17	40703578	Nonsense_Mutation	SNP	G	C3L-02365_TP	10518809	40703578	42553863	335	9811											
KRT33B	0	.	GRCh38	chr17	41364846	41364846	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagccgcgcccgcacgtCcagcagcacctgatactcct	7	6	8	20	4	0	1	0	1	0	0	3	1	3	1	6	0	4	3	6	0	1	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1030G>T	p.Asp344Tyr	p.D344Y	ENST00000251646	6/7	497	410	87	353	353	0	strelka-varscan-mutect	KRT33B,missense_variant,p.Asp344Tyr,ENST00000251646,NM_002279.4;	A	ENST00000251646	Transcript	missense_variant	1080/1607	1030/1215	344/404	D/Y	Gac/Tac		1		-1	KRT33B	HGNC	HGNC:6451	protein_coding	YES	CCDS11389.1	ENSP00000251646	Q14525		UPI000012DAFE	NM_002279.4	deleterious(0)		6/7		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF99,SMART_domains:SM01391,Superfamily_domains:SSF64593																	MODERATE	1	SNV	1			1										PASS		rs928718022	.												A	3	1	34	41364846	41364846	C	A	1	0	0	0	0	1	0	0	0	8352	855	30	2		2	KRT33B	17	41364846	Missense_Mutation	SNP	C	C3L-02365_TP	661268	41364846	41892595	336	9812											
MTMR4	0	.	GRCh38	chr17	58492912	58492912	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcactgtgatcagagccaAaatcctcagtatcactgcca	12	10	6	13	0	4	2	4	1	0	1	5	2	5	2	3	0	2	1	3	0	3	2	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.3251T>C	p.Phe1084Ser	p.F1084S	ENST00000323456	17/19	195	149	46	186	186	0	strelka-varscan-mutect	MTMR4,missense_variant,p.Phe1084Ser,ENST00000323456,NM_004687.4;MTMR4,missense_variant,p.Phe1027Ser,ENST00000579925,;HSF5,upstream_gene_variant,,ENST00000323777,NM_001080439.2;HSF5,upstream_gene_variant,,ENST00000617946,;MTMR4,upstream_gene_variant,,ENST00000578259,;	G	ENST00000323456	Transcript	missense_variant	3376/5839	3251/3588	1084/1195	F/S	tTt/tCt		1		-1	MTMR4	HGNC	HGNC:7452	protein_coding	YES	CCDS11608.1	ENSP00000325285	Q9NYA4		UPI00002010DE	NM_004687.4	tolerated(0.37)		17/19		hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF64																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	58492912	58492912	A	G	1	0	0	0	0	1	0	0	0	9933	14	1	5		5	MTMR4	17	58492912	Missense_Mutation	SNP	A	C3L-02365_TP	17128066	58492912	24764529	337	9813											
KCNH6	0	.	GRCh38	chr17	63535729	63535729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctggtgcgcgtagcaCggaagctggaccgctactct	6	8	15	12	5	1	0	0	0	1	0	1	2	1	2	1	4	5	5	1	4	3	2	rs144043788		C3L-02365_TP	C3L-02365_NB	C	C																c.1162C>T	p.Arg388Trp	p.R388W	ENST00000583023	6/14	141	132	9	113	113	0	strelka-varscan-mutect	KCNH6,missense_variant,p.Arg388Trp,ENST00000583023,NM_030779.3;KCNH6,missense_variant,p.Arg388Trp,ENST00000314672,NM_001278919.1,NM_001278920.1;KCNH6,missense_variant,p.Arg388Trp,ENST00000581784,NM_173092.2;KCNH6,missense_variant,p.Arg388Trp,ENST00000456941,;KCNH6,missense_variant,p.Arg388Trp,ENST00000580652,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	T	ENST00000583023	Transcript	missense_variant	1173/3821	1162/2985	388/994	R/W	Cgg/Tgg	rs144043788	1		1	KCNH6	HGNC	HGNC:18862	protein_coding	YES	CCDS11638.1	ENSP00000463533	Q9H252		UPI000012DCAB	NM_030779.3	deleterious(0)		6/14		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF468,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		rs144043788	.												T	3	4	34	63535729	63535729	C	T	1	0	0	0	0	1	0	0	0	7952	527	19	1		1	KCNH6	17	63535729	Missense_Mutation	SNP	C	C3L-02365_TP	5042817	63535729	19721712	338	9814											
ABCA8	0	.	GRCh38	chr17	68917449	68917449	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagagaaatactttccTgtctgaaaaagaagaagagc	16	9	11	5	0	1	5	0	1	1	4	2	7	2	6	1	1	2	0	1	1	6	3	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.2050A>T	p.Arg684Trp	p.R684W	ENST00000586539	17/40	115	108	7	104	104	0	strelka-mutect	ABCA8,missense_variant,p.Arg684Trp,ENST00000430352,NM_001288986.1;ABCA8,missense_variant,p.Arg644Trp,ENST00000269080,NM_007168.3;ABCA8,missense_variant,p.Arg684Trp,ENST00000586539,NM_001288985.1;ABCA8,splice_region_variant,,ENST00000615593,;ABCA8,missense_variant,p.Arg332Trp,ENST00000589533,;ABCA8,splice_region_variant,,ENST00000541225,;ABCA8,downstream_gene_variant,,ENST00000587206,;	A	ENST00000586539	Transcript	missense_variant,splice_region_variant	2239/5088	2050/4866	684/1621	R/W	Agg/Tgg		1		-1	ABCA8	HGNC	HGNC:38	protein_coding	YES	CCDS74139.1	ENSP00000467271	O94911		UPI0002065B1E	NM_001288985.1	deleterious(0)		17/40		Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF148,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	68917449	68917449	T	A	1	0	0	0	0	1	0	0	0	42	1594	55	4		4	ABCA8	17	68917449	Missense_Mutation	SNP	T	C3L-02365_TP	5381720	68917449	14339992	339	9815											
ABCA10	0	.	GRCh38	chr17	69149089	69149089	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttgaaggtctgtttcaCtgcatgtaaagagactgaca	12	11	11	7	0	2	3	1	2	1	1	2	4	2	3	0	2	1	4	0	2	3	3	rs867434771		C3L-02365_TP	C3L-02365_NB	C	C																c.4478-1G>T		p.X1493_splice	ENST00000269081		208	158	50	178	178	0	strelka-varscan-mutect	ABCA10,splice_acceptor_variant,,ENST00000269081,NM_080282.3;ABCA10,splice_acceptor_variant,,ENST00000521538,;ABCA10,splice_acceptor_variant,,ENST00000522787,;ABCA10,splice_acceptor_variant,,ENST00000519732,;ABCA10,splice_acceptor_variant,,ENST00000522406,;ABCA10,splice_acceptor_variant,,ENST00000518929,;ABCA10,splice_acceptor_variant,,ENST00000523419,;ABCA10,splice_acceptor_variant,,ENST00000524231,;ABCA10,non_coding_transcript_exon_variant,,ENST00000588514,;	A	ENST00000269081	Transcript	splice_acceptor_variant	-/6362	4478/4632	1493/1543			rs867434771	1		-1	ABCA10	HGNC	HGNC:30	protein_coding	YES	CCDS11684.1	ENSP00000269081	Q8WWZ4		UPI000013D7F6	NM_080282.3				38/39																		HIGH	1	SNV	1			1										PASS		rs867434771	.												A	5	1	34	69149089	69149089	C	A	1	0	0	0	0	0	0	1	0	33	579	20	2		2	ABCA10	17	69149089	Splice_Site	SNP	C	C3L-02365_TP	231640	69149089	14108352	340	9816											
FADS6	0	.	GRCh38	chr17	74893493	74893493	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccacggtgcgcgctccGcgccggttccatgggctccg	2	6	14	19	7	0	0	0	0	0	0	3	0	3	0	6	3	1	3	6	3	0	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.103C>G	p.Arg35Gly	p.R35G	ENST00000612771	1/6	196	166	30	165	165	0	strelka-varscan-mutect	FADS6,missense_variant,p.Arg35Gly,ENST00000612771,NM_178128.5;FADS6,missense_variant,p.Arg17Gly,ENST00000614223,;FADS6,missense_variant,p.Arg35Gly,ENST00000621859,;	C	ENST00000612771	Transcript	missense_variant	118/2154	103/1107	35/368	R/G	Cgg/Ggg		1		-1	FADS6	HGNC	HGNC:30459	protein_coding	YES	CCDS54163.2	ENSP00000481684		A0A087WYB9	UPI0001639CD9	NM_178128.5	tolerated(0.41)		1/6		hmmpanther:PTHR19353,hmmpanther:PTHR19353:SF13																	MODERATE	1	SNV	1			1										PASS		rs1244933354	.												C	3	2	34	74893493	74893493	G	C	1	0	0	0	0	1	0	0	0	5240	1086	38	4		4	FADS6	17	74893493	Missense_Mutation	SNP	G	C3L-02365_TP	5744404	74893493	8363948	341	9817											
CCDC137	0	.	GRCh38	chr17	81670444	81670444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagtctgagcagaaaaaagCaaaaaaagcgtgagtggagg	19	4	14	4	1	1	3	0	2	1	1	1	5	1	4	0	2	3	2	0	2	7	0	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.488C>A	p.Ala163Glu	p.A163E	ENST00000329214	3/6	163	154	9	121	121	0	strelka-varscan-mutect	CCDC137,missense_variant,p.Ala163Glu,ENST00000329214,NM_199287.2;CCDC137,missense_variant,p.Ala172Glu,ENST00000574107,;OXLD1,upstream_gene_variant,,ENST00000571503,NM_001304995.1,NM_001304999.1;OXLD1,upstream_gene_variant,,ENST00000374741,NM_001039842.2;OXLD1,upstream_gene_variant,,ENST00000573786,;CCDC137,missense_variant,p.Ala163Glu,ENST00000575223,;CCDC137,3_prime_UTR_variant,,ENST00000571916,;OXLD1,upstream_gene_variant,,ENST00000575963,;OXLD1,upstream_gene_variant,,ENST00000571757,;OXLD1,upstream_gene_variant,,ENST00000575992,;OXLD1,upstream_gene_variant,,ENST00000571092,;CCDC137,downstream_gene_variant,,ENST00000574200,;CCDC137,upstream_gene_variant,,ENST00000572531,;	A	ENST00000329214	Transcript	missense_variant	891/2468	488/870	163/289	A/E	gCa/gAa		1		1	CCDC137	HGNC	HGNC:33451	protein_coding	YES	CCDS42400.1	ENSP00000329360	Q6PK04		UPI00001983C7	NM_199287.2	tolerated(1)		3/6		hmmpanther:PTHR21838,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1435124182	.												A	3	1	34	81670444	81670444	C	A	1	0	0	0	0	1	0	0	0	2460	710	25	2		2	CCDC137	17	81670444	Missense_Mutation	SNP	C	C3L-02365_TP	6776951	81670444	1586997	342	9818											
LAMA1	0	.	GRCh38	chr18	6955450	6955450	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aacgtactccagagctgcatCcaccacacactgttcctgta	11	9	6	15	1	0	1	0	0	0	1	3	1	3	1	4	0	4	5	4	0	3	3	rs776782542		C3L-02365_TP	C3L-02365_NB	C	C																c.8110G>C	p.Asp2704His	p.D2704H	ENST00000389658	57/63	466	373	93	373	373	0	strelka-varscan-mutect	LAMA1,missense_variant,p.Asp2704His,ENST00000389658,NM_005559.3;RP11-781P6.1,non_coding_transcript_exon_variant,,ENST00000584722,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488089,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,non_coding_transcript_exon_variant,,ENST00000492048,;	G	ENST00000389658	Transcript	missense_variant	8204/9657	8110/9228	2704/3075	D/H	Gat/Cat	rs776782542	1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	deleterious(0.02)		57/63		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299																	MODERATE		SNV	2			1										PASS		rs776782542	.												G	3	3	34	6955450	6955450	C	G	1	0	0	0	0	1	0	0	0	8509	855	30	4		4	LAMA1	18	6955450	Missense_Mutation	SNP	C	C3L-02365_TP		6955450	73417835	343	9819											
SETBP1	0	.	GRCh38	chr18	45063368	45063368	+	Frame_Shift_Del	DEL	G	G	-																															ctgcccagcaaaagaggccaGaagcccagcctgagcccgct																								novel		C3L-02365_TP	C3L-02365_NB	G	G																c.4461delG	p.Lys1488SerfsTer4	p.K1488Sfs*4	ENST00000282030	6/6	55	48	7	93	93	0	sindel-pindel	SETBP1,frameshift_variant,p.Lys1488SerfsTer4,ENST00000282030,NM_015559.2;	-	ENST00000282030	Transcript	frameshift_variant	4757/9899	4461/4791	1487/1596	Q/X	caG/ca		1		1	SETBP1	HGNC	HGNC:15573	protein_coding	YES	CCDS11923.2	ENSP00000282030	Q9Y6X0		UPI0000201C54	NM_015559.2			6/6		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF342																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	34	45063368	45063368	G	-	1	0	1	0	1	0	0	0	0	14406	933	33	0		0	SETBP1	18	45063368	Frame_Shift_Del	DEL	G	C3L-02365_TP	38107918	45063368	35309917	344	9820											
LIPG	0	.	GRCh38	chr18	49569504	49569504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcggagcgcacgtggccgGgtatgcaggcaacttcgtga	7	7	15	12	5	0	1	0	1	0	0	2	2	0	2	2	4	3	4	2	4	2	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.527G>T	p.Gly176Val	p.G176V	ENST00000261292	4/10	416	294	122	459	459	0	strelka-varscan-mutect	LIPG,missense_variant,p.Gly176Val,ENST00000261292,NM_006033.2;LIPG,missense_variant,p.Gly212Val,ENST00000577628,;LIPG,missense_variant,p.Gly176Val,ENST00000427224,NM_001308006.1;LIPG,missense_variant,p.Gly176Val,ENST00000580036,;LIPG,downstream_gene_variant,,ENST00000583083,;LIPG,downstream_gene_variant,,ENST00000579750,;	T	ENST00000261292	Transcript	missense_variant	805/10441	527/1503	176/500	G/V	gGg/gTg		1		1	LIPG	HGNC	HGNC:6623	protein_coding	YES	CCDS11938.1	ENSP00000261292	Q9Y5X9	A0A024R2B5	UPI000012E706	NM_006033.2	deleterious(0.01)		4/10		hmmpanther:PTHR11610:SF13,hmmpanther:PTHR11610,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474,Prints_domain:PR00821,Prints_domain:PR00822																	MODERATE	1	SNV	1			1										PASS		rs1387264680	.												T	3	4	34	49569504	49569504	G	T	1	0	0	0	0	1	0	0	0	8744	1232	43	2		2	LIPG	18	49569504	Missense_Mutation	SNP	G	C3L-02365_TP	4506136	49569504	30803781	345	9821											
FECH	0	.	GRCh38	chr18	57571392	57571392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgaagaaacaccatacCtgtgttgggggacaattcat	14	11	9	7	0	1	2	1	1	0	1	1	3	1	3	2	2	2	1	2	2	5	4			C3L-02365_TP	C3L-02365_NB	C	C																c.481G>A	p.Ala161Thr	p.A161T	ENST00000382873	4/11	231	166	65	318	318	0	strelka-varscan-mutect	FECH,missense_variant,p.Ala155Thr,ENST00000262093,NM_000140.3;FECH,missense_variant,p.Ala161Thr,ENST00000382873,NM_001012515.2;FECH,missense_variant,p.Ala155Thr,ENST00000592699,;FECH,missense_variant,p.Ala83Thr,ENST00000591215,;FECH,missense_variant,p.Val155Ile,ENST00000585747,;FECH,splice_region_variant,,ENST00000585699,;FECH,splice_region_variant,,ENST00000585494,;FECH,downstream_gene_variant,,ENST00000585878,;FECH,downstream_gene_variant,,ENST00000592111,;	T	ENST00000382873	Transcript	missense_variant,splice_region_variant	515/2526	481/1290	161/429	A/T	Gcc/Acc	CS961589	1		-1	FECH	HGNC	HGNC:3647	protein_coding	YES	CCDS32836.1	ENSP00000372326	P22830		UPI00004E55EB	NM_001012515.2	deleterious(0)		4/11		Gene3D:3.40.50.1400,HAMAP:MF_00323,Pfam_domain:PF00762,hmmpanther:PTHR11108,hmmpanther:PTHR11108:SF1,Superfamily_domains:SSF53800,TIGRFAM_domain:TIGR00109																	MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	34	57571392	57571392	C	T	1	0	0	0	0	1	0	0	0	5671	695	24	3		3	FECH	18	57571392	Missense_Mutation	SNP	C	C3L-02365_TP	8001888	57571392	22801893	346	9822											
PHLPP1	0	.	GRCh38	chr18	62715983	62715983	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggcgcggggcgccccaGcccattgccggcggggctgc	3	3	19	16	6	0	0	0	0	0	0	0	0	0	0	4	7	3	1	4	7	0	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.300G>A	p.=	p.Q100Q	ENST00000262719	1/17	17	13	4	20	20	0	strelka-varscan-mutect	PHLPP1,synonymous_variant,p.=,ENST00000262719,NM_194449.3;	A	ENST00000262719	Transcript	synonymous_variant	534/6390	300/5154	100/1717	Q	caG/caA		1		1	PHLPP1	HGNC	HGNC:20610	protein_coding	YES	CCDS45881.2	ENSP00000262719	O60346		UPI000051AE2E	NM_194449.3			1/17		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	62715983	62715983	G	A	1	0	0	0	0	0	0	0	1	11942	962	34	3		3	PHLPP1	18	62715983	Silent	SNP	G	C3L-02365_TP	5144591	62715983	17657302	347	9823											
CDH7	0	.	GRCh38	chr18	65857947	65857947	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcacagtccttgcaatggAgagccgtaagttgtgaggct	10	11	12	8	1	1	2	1	1	0	1	2	3	2	2	2	2	2	4	2	2	3	4	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.1367A>G	p.Glu456Gly	p.E456G	ENST00000397968	8/12	93	84	9	154	154	0	strelka-varscan-mutect	CDH7,missense_variant,p.Glu456Gly,ENST00000397968,NM_004361.2;CDH7,missense_variant,p.Glu456Gly,ENST00000536984,NM_001317214.1;CDH7,missense_variant,p.Glu456Gly,ENST00000323011,NM_033646.1;	G	ENST00000397968	Transcript	missense_variant	1793/12231	1367/2358	456/785	E/G	gAg/gGg		1		1	CDH7	HGNC	HGNC:1766	protein_coding	YES	CCDS11993.1	ENSP00000381058	Q9ULB5		UPI000013D269	NM_004361.2	deleterious(0)		8/12		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	65857947	65857947	A	G	1	0	0	0	0	1	0	0	0	2818	318	11	5		5	CDH7	18	65857947	Missense_Mutation	SNP	A	C3L-02365_TP	3141964	65857947	14515338	348	9824											
NETO1	0	.	GRCh38	chr18	72794363	72794363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatatctattttaccaacCtggtaatggtttcaaagctc	13	15	5	8	0	2	0	1	0	1	0	3	0	2	0	2	2	3	3	2	2	8	7	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.511G>T	p.Ala171Ser	p.A171S	ENST00000327305	5/11	100	72	28	168	167	1	strelka-varscan-mutect	NETO1,missense_variant,p.Ala171Ser,ENST00000327305,NM_138966.3;NETO1,missense_variant,p.Ala171Ser,ENST00000583169,NM_001201465.1;NETO1,intron_variant,,ENST00000579730,;	A	ENST00000327305	Transcript	missense_variant,splice_region_variant	1169/3058	511/1602	171/533	A/S	Gcg/Tcg		1		-1	NETO1	HGNC	HGNC:13823	protein_coding	YES	CCDS12000.1	ENSP00000313088	Q8TDF5	A0A024R375	UPI000013E59E	NM_138966.3	tolerated(0.75)		5/11		Gene3D:2.60.120.290,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF315,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	72794363	72794363	C	A	1	0	0	0	0	1	0	0	0	10374	695	24	2		2	NETO1	18	72794363	Missense_Mutation	SNP	C	C3L-02365_TP	6936416	72794363	7578922	349	9825											
TLE6	0	.	GRCh38	chr19	2988097	2988097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcccccgcctgcaggagcctCctggaagagcctctcggttt	5	9	11	16	2	1	1	0	0	1	1	4	3	3	3	6	3	3	2	6	3	1	1			C3L-02365_TP	C3L-02365_NB	C	C																c.709C>T	p.Pro237Ser	p.P237S	ENST00000246112	11/17	203	116	87	197	197	0	strelka-varscan-mutect	TLE6,missense_variant,p.Pro237Ser,ENST00000246112,NM_001143986.1;TLE6,missense_variant,p.Pro114Ser,ENST00000452088,NM_024760.2;TLE6,downstream_gene_variant,,ENST00000453329,;TLE6,non_coding_transcript_exon_variant,,ENST00000478073,;TLE6,downstream_gene_variant,,ENST00000468176,;TLE6,downstream_gene_variant,,ENST00000591953,;TLE6,non_coding_transcript_exon_variant,,ENST00000497878,;TLE6,downstream_gene_variant,,ENST00000474207,;TLE6,upstream_gene_variant,,ENST00000469572,;	T	ENST00000246112	Transcript	missense_variant	910/2100	709/1719	237/572	P/S	Cct/Tct	COSM4816943,COSM4816944	1		1	TLE6	HGNC	HGNC:30788	protein_coding	YES	CCDS45910.1	ENSP00000246112	Q9H808		UPI000059D62B	NM_001143986.1	tolerated(0.58)		11/17		hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF2											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	34	2988097	2988097	C	T	1	0	0	0	0	1	0	0	0	16388	855	30	3		3	TLE6	19	2988097	Missense_Mutation	SNP	C	C3L-02365_TP		2988097	55629519	350	9826											
ADGRE1	0	.	GRCh38	chr19	6937316	6937316	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggcatttttcagattGgacctgtggcaggtgtcatg	6	14	14	7	0	2	1	2	0	0	1	2	2	2	2	1	4	1	3	1	4	0	3	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.2455G>T	p.Gly819Ter	p.G819*	ENST00000312053	19/21	148	97	51	131	131	0	strelka-varscan-mutect	ADGRE1,stop_gained,p.Gly819Ter,ENST00000312053,NM_001974.4;ADGRE1,stop_gained,p.Gly800Ter,ENST00000381404,NM_001256252.1;ADGRE1,stop_gained,p.Gly754Ter,ENST00000250572,NM_001256253.1;ADGRE1,stop_gained,p.Gly678Ter,ENST00000381407,NM_001256254.1;ADGRE1,stop_gained,p.Gly642Ter,ENST00000450315,NM_001256255.1;	T	ENST00000312053	Transcript	stop_gained	2492/3128	2455/2661	819/886	G/*	Gga/Tga		1		1	ADGRE1	HGNC	HGNC:3336	protein_coding	YES	CCDS12175.1	ENSP00000311545	Q14246		UPI0000203241	NM_001974.4			19/21		PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF303,Pfam_domain:PF00002,Superfamily_domains:SSF81321																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	34	6937316	6937316	G	T	1	0	0	0	0	0	1	0	0	359	1349	47	2		2	ADGRE1	19	6937316	Nonsense_Mutation	SNP	G	C3L-02365_TP	3949219	6937316	51680300	351	9827											
MUC16	0	.	GRCh38	chr19	8882730	8882730	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgtccctgtccagtgtgtAggggcccagctcagtgatgc	6	10	13	12	0	1	1	1	1	0	0	3	1	3	1	3	2	2	2	3	2	1	1	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.41683T>C	p.Tyr13895His	p.Y13895H	ENST00000397910	66/84	178	130	48	190	190	0	strelka-varscan-mutect	MUC16,missense_variant,p.Tyr13895His,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Tyr735His,ENST00000599436,;MUC16,missense_variant,p.Tyr713His,ENST00000601404,;MUC16,missense_variant,p.Tyr515His,ENST00000596768,;	G	ENST00000397910	Transcript	missense_variant	41887/43816	41683/43524	13895/14507	Y/H	Tac/Cac		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			66/84		PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Gene3D:1ivzA00,Pfam_domain:PF01390,Superfamily_domains:0047452																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	34	8882730	8882730	A	G	1	0	0	0	0	1	0	0	0	9972	420	15	5		5	MUC16	19	8882730	Missense_Mutation	SNP	A	C3L-02365_TP	1945414	8882730	49734886	352	9828											
KEAP1	0	.	GRCh38	chr19	10491799	10491799	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacagcccgcccaccacgCagccggccaggccgctccgc	8	1	10	22	5	0	0	0	0	0	0	1	0	1	0	7	2	3	2	7	2	1	0			C3L-02365_TP	C3L-02365_NB	C	C																c.1103G>T	p.Cys368Phe	p.C368F	ENST00000171111	3/6	104	48	56	110	110	0	strelka-varscan-mutect	KEAP1,missense_variant,p.Cys368Phe,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Cys368Phe,ENST00000393623,NM_012289.3;KEAP1,upstream_gene_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000592055,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,downstream_gene_variant,,ENST00000588024,;KEAP1,missense_variant,p.Cys28Phe,ENST00000590593,;KEAP1,downstream_gene_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590237,;	A	ENST00000171111	Transcript	missense_variant	1651/2955	1103/1875	368/624	C/F	tGc/tTc	COSM3701407	1		-1	KEAP1	HGNC	HGNC:23177	protein_coding	YES	CCDS12239.1	ENSP00000171111	Q14145	A0A024R7C0	UPI000007139C	NM_203500.1	deleterious(0)		3/6		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	34	10491799	10491799	C	A	1	0	0	0	0	1	0	0	0	8061	710	25	2		2	KEAP1	19	10491799	Missense_Mutation	SNP	C	C3L-02365_TP	1609069	10491799	48125817	353	9829											
BEST2	0	.	GRCh38	chr19	12757933	12757933	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctgccggagcccgaggcCccgccccctgcgggtcccga	3	3	15	20	5	0	0	0	0	0	0	1	3	1	1	8	4	3	0	8	4	0	0	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1386C>G	p.=	p.A462A	ENST00000549706	10/10	528	394	134	444	444	0	strelka-varscan-mutect	BEST2,synonymous_variant,p.=,ENST00000549706,;BEST2,synonymous_variant,p.=,ENST00000553030,;BEST2,synonymous_variant,p.=,ENST00000042931,NM_017682.2;BEST2,downstream_gene_variant,,ENST00000552539,;	G	ENST00000549706	Transcript	synonymous_variant	1710/2183	1386/1530	462/509	A	gcC/gcG		1		1	BEST2	HGNC	HGNC:17107	protein_coding	YES	CCDS42506.1	ENSP00000448310	Q8NFU1		UPI000007395A				10/10		Low_complexity_(Seg):seg,hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF1																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	34	12757933	12757933	C	G	1	0	0	0	0	0	0	0	1	1553	610	22	4		4	BEST2	19	12757933	Silent	SNP	C	C3L-02365_TP	2266134	12757933	45859683	354	9830											
MAP1S	0	.	GRCh38	chr19	17726094	17726094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctccgggggcttcctcaGgctgggccggccctgctgct	2	8	15	16	2	1	0	1	0	0	0	3	1	3	0	5	5	2	4	5	5	0	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.710G>T	p.Arg237Met	p.R237M	ENST00000324096	5/7	357	188	169	369	369	0	strelka-varscan-mutect	MAP1S,missense_variant,p.Arg237Met,ENST00000324096,NM_018174.4;MAP1S,missense_variant,p.Arg211Met,ENST00000544059,NM_001308363.1;MAP1S,intron_variant,,ENST00000597735,;MAP1S,downstream_gene_variant,,ENST00000600186,;MAP1S,downstream_gene_variant,,ENST00000594625,;MAP1S,upstream_gene_variant,,ENST00000597000,;CTD-3149D2.4,downstream_gene_variant,,ENST00000595363,;MAP1S,intron_variant,,ENST00000597681,;MAP1S,downstream_gene_variant,,ENST00000601544,;MAP1S,downstream_gene_variant,,ENST00000599494,;MAP1S,upstream_gene_variant,,ENST00000598756,;MAP1S,downstream_gene_variant,,ENST00000594340,;MAP1S,downstream_gene_variant,,ENST00000595338,;MAP1S,downstream_gene_variant,,ENST00000598916,;MAP1S,downstream_gene_variant,,ENST00000597067,;MAP1S,3_prime_UTR_variant,,ENST00000594212,;MAP1S,downstream_gene_variant,,ENST00000594365,;MAP1S,downstream_gene_variant,,ENST00000598769,;MAP1S,downstream_gene_variant,,ENST00000596637,;MAP1S,downstream_gene_variant,,ENST00000593593,;MAP1S,downstream_gene_variant,,ENST00000600608,;	T	ENST00000324096	Transcript	missense_variant	861/3419	710/3180	237/1059	R/M	aGg/aTg		1		1	MAP1S	HGNC	HGNC:15715	protein_coding	YES	CCDS32954.1	ENSP00000325313	Q66K74		UPI00002036F9	NM_018174.4	deleterious(0)		5/7		hmmpanther:PTHR13843																	MODERATE	1	SNV	1			1										PASS		rs1234418364	.												T	3	4	34	17726094	17726094	G	T	1	0	0	0	0	1	0	0	0	9156	1000	35	2		2	MAP1S	19	17726094	Missense_Mutation	SNP	G	C3L-02365_TP	4968161	17726094	40891522	355	9831											
TSHZ3	0	.	GRCh38	chr19	31276759	31276759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatctgactgttaatctgttCggtggacagtttggataagt	9	16	11	5	1	2	1	0	1	2	0	3	3	2	3	0	3	0	3	0	3	3	5	rs376270774		C3L-02365_TP	C3L-02365_NB	C	C																c.3034G>A	p.Glu1012Lys	p.E1012K	ENST00000240587	2/2	126	119	7	110	109	1	varscan-mutect	TSHZ3,missense_variant,p.Glu1012Lys,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;	T	ENST00000240587	Transcript	missense_variant	3362/5176	3034/3246	1012/1081	E/K	Gaa/Aaa	rs376270774,COSM1392497,COSM1392498	1		-1	TSHZ3	HGNC	HGNC:30700	protein_coding	YES	CCDS12421.2	ENSP00000240587	Q63HK5		UPI0000202000	NM_020856.2	tolerated(0.23)		2/2		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs376270774	.												T	3	4	34	31276759	31276759	C	T	1	0	0	0	0	1	0	0	0	17130	893	31	1		1	TSHZ3	19	31276759	Missense_Mutation	SNP	C	C3L-02365_TP	13550665	31276759	27340857	356	9832											
DMKN	0	.	GRCh38	chr19	35511487	35511487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccactgctgccgccactgCtgccgccactgctgctgcca	5	7	9	20	2	0	0	0	0	0	0	0	0	0	0	6	0	7	4	6	0	0	0	rs142519211,rs771989472		C3L-02365_TP	C3L-02365_NB	C	C																c.842G>A	p.Ser281Asn	p.S281N	ENST00000339686	5/16	116	109	7	178	176	2	varscan-mutect	DMKN,missense_variant,p.Ser281Asn,ENST00000339686,NM_033317.4;DMKN,missense_variant,p.Ser281Asn,ENST00000447113,NM_001190348.1;DMKN,missense_variant,p.Ser281Asn,ENST00000424570,NM_001126057.2;DMKN,missense_variant,p.Ser281Asn,ENST00000418261,NM_001126058.2;DMKN,missense_variant,p.Ser281Asn,ENST00000451297,NM_001190349.1;DMKN,intron_variant,,ENST00000419602,NM_001126056.2;DMKN,intron_variant,,ENST00000429837,NM_001190347.1;DMKN,upstream_gene_variant,,ENST00000402589,NM_001308380.1;DMKN,upstream_gene_variant,,ENST00000434389,;DMKN,upstream_gene_variant,,ENST00000414866,NM_001126059.2;DMKN,upstream_gene_variant,,ENST00000436012,NM_001308383.1;DMKN,upstream_gene_variant,,ENST00000443640,;DMKN,upstream_gene_variant,,ENST00000467637,;DMKN,upstream_gene_variant,,ENST00000602781,;DMKN,upstream_gene_variant,,ENST00000480502,;DMKN,upstream_gene_variant,,ENST00000492341,;DMKN,upstream_gene_variant,,ENST00000472252,;DMKN,upstream_gene_variant,,ENST00000474928,;DMKN,upstream_gene_variant,,ENST00000461300,;DMKN,upstream_gene_variant,,ENST00000602679,;DMKN,upstream_gene_variant,,ENST00000458071,;DMKN,upstream_gene_variant,,ENST00000392206,;DMKN,upstream_gene_variant,,ENST00000488892,;DMKN,upstream_gene_variant,,ENST00000450261,;DMKN,upstream_gene_variant,,ENST00000462126,;DMKN,upstream_gene_variant,,ENST00000476051,;DMKN,upstream_gene_variant,,ENST00000474992,;DMKN,upstream_gene_variant,,ENST00000489395,;DMKN,upstream_gene_variant,,ENST00000490622,;DMKN,upstream_gene_variant,,ENST00000488542,;DMKN,upstream_gene_variant,,ENST00000462721,;DMKN,upstream_gene_variant,,ENST00000465927,;DMKN,upstream_gene_variant,,ENST00000467532,;DMKN,upstream_gene_variant,,ENST00000482321,;DMKN,upstream_gene_variant,,ENST00000464709,;DMKN,upstream_gene_variant,,ENST00000464894,;DMKN,upstream_gene_variant,,ENST00000471786,;DMKN,upstream_gene_variant,,ENST00000476246,;DMKN,upstream_gene_variant,,ENST00000488762,;DMKN,upstream_gene_variant,,ENST00000498211,;DMKN,upstream_gene_variant,,ENST00000493979,;DMKN,upstream_gene_variant,,ENST00000463292,;DMKN,upstream_gene_variant,,ENST00000597212,;DMKN,upstream_gene_variant,,ENST00000460051,;DMKN,upstream_gene_variant,,ENST00000498593,;DMKN,upstream_gene_variant,,ENST00000483855,;DMKN,upstream_gene_variant,,ENST00000486450,;DMKN,upstream_gene_variant,,ENST00000462538,;DMKN,upstream_gene_variant,,ENST00000470857,;DMKN,upstream_gene_variant,,ENST00000493517,;DMKN,upstream_gene_variant,,ENST00000480507,;DMKN,upstream_gene_variant,,ENST00000472065,;DMKN,upstream_gene_variant,,ENST00000498269,;DMKN,upstream_gene_variant,,ENST00000470746,;DMKN,upstream_gene_variant,,ENST00000595571,;	T	ENST00000339686	Transcript	missense_variant	1019/1927	842/1431	281/476	S/N	aGc/aAc	rs142519211,rs771989472	1		-1	DMKN	HGNC	HGNC:25063	protein_coding	YES	CCDS12463.1	ENSP00000342012	Q6E0U4		UPI00002020EB	NM_033317.4	tolerated_low_confidence(0.33)		5/16		hmmpanther:PTHR36881,hmmpanther:PTHR36881:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs142519211	.												T	3	4	34	35511487	35511487	C	T	1	0	0	0	0	1	0	0	0	4389	797	28	3		3	DMKN	19	35511487	Missense_Mutation	SNP	C	C3L-02365_TP	4234728	35511487	23106129	357	9833											
FBXO17	0	.	GRCh38	chr19	38944971	38944971	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctagtctggacccacctGtcggcagcccctctcagtcc	7	8	9	17	1	2	0	1	0	2	0	5	1	3	1	5	2	2	2	5	2	2	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.691C>T	p.Gln231Ter	p.Q231*	ENST00000292852	5/6	136	73	63	139	137	2	strelka-varscan-mutect	FBXO17,stop_gained,p.Gln231Ter,ENST00000292852,NM_024907.6;CTC-360G5.8,stop_gained,p.Gln136Ter,ENST00000599996,;FBXO17,stop_gained,p.Gln231Ter,ENST00000595329,NM_148169.2;FBXO17,stop_gained,p.Gln90Ter,ENST00000599598,;FBXO17,splice_region_variant,,ENST00000599418,;FBXO17,splice_region_variant,,ENST00000596025,;FBXO17,splice_region_variant,,ENST00000597696,;FBXO17,downstream_gene_variant,,ENST00000601394,;	A	ENST00000292852	Transcript	stop_gained,splice_region_variant	1033/2386	691/837	231/278	Q/*	Cag/Tag		1		-1	FBXO17	HGNC	HGNC:18754	protein_coding	YES	CCDS12526.1	ENSP00000292852	Q96EF6		UPI000012ADC1	NM_024907.6			5/6		PROSITE_profiles:PS51114,hmmpanther:PTHR12125,hmmpanther:PTHR12125:SF7,Gene3D:2.60.120.260,Pfam_domain:PF04300,SMART_domains:SM01198,Superfamily_domains:SSF49785																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	34	38944971	38944971	G	A	1	0	0	0	0	0	1	0	0	5593	1391	48	3		3	FBXO17	19	38944971	Nonsense_Mutation	SNP	G	C3L-02365_TP	3433484	38944971	19672645	358	9834											
SPTBN4	0	.	GRCh38	chr19	40504011	40504011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtgacagcgtcctgcGccagtgggccctgctaactg	6	7	13	15	3	0	1	0	1	0	0	1	1	1	1	4	1	5	1	4	1	1	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1544G>A	p.Arg515His	p.R515H	ENST00000352632	12/36	207	131	76	177	177	0	strelka-varscan-mutect	SPTBN4,missense_variant,p.Arg515His,ENST00000338932,;SPTBN4,missense_variant,p.Arg515His,ENST00000352632,;SPTBN4,missense_variant,p.Arg515His,ENST00000392025,;SPTBN4,missense_variant,p.Arg515His,ENST00000598249,NM_020971.2;SPTBN4,missense_variant,p.Arg515His,ENST00000595535,;SPTBN4,downstream_gene_variant,,ENST00000598775,;	A	ENST00000352632	Transcript	missense_variant	1630/8676	1544/7695	515/2564	R/H	cGc/cAc		1		1	SPTBN4	HGNC	HGNC:14896	protein_coding	YES	CCDS12559.1	ENSP00000263373	Q9H254		UPI0000135DBB		deleterious(0.01)		12/36		Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF232,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	5			1										PASS		rs956153403	.												A	3	1	34	40504011	40504011	G	A	1	0	0	0	0	1	0	0	0	15477	1087	38	1		1	SPTBN4	19	40504011	Missense_Mutation	SNP	G	C3L-02365_TP	1559040	40504011	18113605	359	9835											
GLTSCR1	0	.	GRCh38	chr19	47701588	47701588	+	Missense_Mutation	SNP	G	G	A																															cctccttggacgccgacgagGacggccccatgccctcccgc																								novel		C3L-02365_TP	C3L-02365_NB	G	G																c.3856G>A	p.Asp1286Asn	p.D1286N	ENST00000396720	15/15	537	410	127	443	443	0	strelka-varscan-mutect	GLTSCR1,missense_variant,p.Asp1286Asn,ENST00000396720,NM_015711.3;GLTSCR1,missense_variant,p.Asp1234Asn,ENST00000614245,;CTD-2571L23.8,intron_variant,,ENST00000599924,;GLTSCR1,non_coding_transcript_exon_variant,,ENST00000602258,;	A	ENST00000396720	Transcript	missense_variant	4050/5739	3856/4683	1286/1560	D/N	Gac/Aac		1		1	GLTSCR1	HGNC	HGNC:4332	protein_coding	YES	CCDS46134.1	ENSP00000379946	Q9NZM4		UPI00016278EE	NM_015711.3	deleterious(0.01)		15/15		hmmpanther:PTHR15572:SF1,hmmpanther:PTHR15572																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	34	47701588	47701588	G	A	1	0	0	0	0	1	0	0	0	6350	1174	41	3		3	GLTSCR1	19	47701588	Missense_Mutation	SNP	G	C3L-02365_TP	7197577	47701588	10916028	360	9836	227	2									
GLTSCR1	0	.	GRCh38	chr19	47701593	47701593	+	Frame_Shift_Del	DEL	C	C	-																															ttggacgccgacgaggacggCcccatgccctcccgcaaccg																								novel		C3L-02365_TP	C3L-02365_NB	C	C																c.3864delC	p.Met1289CysfsTer71	p.M1289Cfs*71	ENST00000396720	15/15	480	366	114	412	412	0	sindel-varindel-pindel	GLTSCR1,frameshift_variant,p.Met1289CysfsTer71,ENST00000396720,NM_015711.3;GLTSCR1,frameshift_variant,p.Met1237CysfsTer71,ENST00000614245,;CTD-2571L23.8,intron_variant,,ENST00000599924,;GLTSCR1,non_coding_transcript_exon_variant,,ENST00000602258,;	-	ENST00000396720	Transcript	frameshift_variant	4055/5739	3861/4683	1287/1560	G/X	ggC/gg		1		1	GLTSCR1	HGNC	HGNC:4332	protein_coding	YES	CCDS46134.1	ENSP00000379946	Q9NZM4		UPI00016278EE	NM_015711.3			15/15		hmmpanther:PTHR15572:SF1,hmmpanther:PTHR15572																	HIGH	1	deletion	5	3		1										PASS		.	.												-	7	5	34	47701593	47701593	C	-	1	0	1	0	1	0	0	0	0	6350	726	26	0		0	GLTSCR1	19	47701593	Frame_Shift_Del	DEL	C	C3L-02365_TP	5	47701593	10916023	361	9837	227	2									
CTU1	0	.	GRCh38	chr19	51104413	51104413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaggcgcccacggccaccaCcgcgccgggcggcagcaggc	6	0	16	19	7	0	0	0	0	0	0	0	1	0	0	5	5	1	2	5	5	0	0	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.157G>T	p.Val53Leu	p.V53L	ENST00000421832	2/3	55	30	25	80	80	0	strelka-varscan-mutect	CTU1,missense_variant,p.Val53Leu,ENST00000421832,NM_145232.3;	A	ENST00000421832	Transcript	missense_variant	202/2087	157/1047	53/348	V/L	Gtg/Ttg		1		-1	CTU1	HGNC	HGNC:29590	protein_coding	YES	CCDS12824.1	ENSP00000390011	Q7Z7A3		UPI000013D897	NM_145232.3	tolerated(0.09)		2/3		Low_complexity_(Seg):seg,HAMAP:MF_03053,hmmpanther:PTHR11807,hmmpanther:PTHR11807:SF12,PIRSF_domain:PIRSF004976,Superfamily_domains:SSF52402																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	34	51104413	51104413	C	A	1	0	0	0	0	1	0	0	0	3856	507	18	2		2	CTU1	19	51104413	Missense_Mutation	SNP	C	C3L-02365_TP	3402820	51104413	7513203	362	9838											
ZNF264	0	.	GRCh38	chr19	57193873	57193873	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaattctgtttgactttccAggtgtctgtgacctttgatg	6	18	9	8	0	2	3	0	3	2	0	3	3	3	3	2	1	0	1	2	1	1	5	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.34-2A>T		p.X12_splice	ENST00000263095		124	56	68	128	128	0	strelka-varscan-mutect	ZNF264,splice_acceptor_variant,,ENST00000263095,NM_003417.4;ZNF264,splice_acceptor_variant,,ENST00000536056,;ZNF264,splice_acceptor_variant,,ENST00000600531,;ZNF264,splice_acceptor_variant,,ENST00000599653,;ZNF264,splice_acceptor_variant,,ENST00000597447,;ZNF264,splice_acceptor_variant,,ENST00000594126,;	T	ENST00000263095	Transcript	splice_acceptor_variant	-/12163	34/1884	12/627				1		1	ZNF264	HGNC	HGNC:13057	protein_coding	YES	CCDS33127.1	ENSP00000263095	O43296		UPI000013C33B	NM_003417.4				1/3																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	34	57193873	57193873	A	T	1	0	0	0	0	0	0	1	0	18380	202	7	4		4	ZNF264	19	57193873	Splice_Site	SNP	A	C3L-02365_TP	6089460	57193873	1423743	363	9839											
ZNF460	0	.	GRCh38	chr19	57290854	57290854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccatctgaaatgcaggaaTactttttgagaccagggaca	13	9	11	8	0	1	2	0	2	1	1	1	5	1	4	2	3	2	1	2	3	3	3	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.313T>C	p.Tyr105His	p.Y105H	ENST00000360338	3/3	216	192	24	221	221	0	strelka-varscan-mutect	ZNF460,missense_variant,p.Tyr105His,ENST00000360338,NM_006635.3;ZNF460,missense_variant,p.Tyr64His,ENST00000537645,;ZNF460,missense_variant,p.Tyr64His,ENST00000599602,;CTC-444N24.7,downstream_gene_variant,,ENST00000623072,;	C	ENST00000360338	Transcript	missense_variant	635/3350	313/1689	105/562	Y/H	Tac/Cac		1		1	ZNF460	HGNC	HGNC:21628	protein_coding	YES	CCDS12949.1	ENSP00000353491	Q14592		UPI0000202D11	NM_006635.3	tolerated(0.12)		3/3																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	57290854	57290854	T	C	1	0	0	0	0	1	0	0	0	18495	1406	49	5		5	ZNF460	19	57290854	Missense_Mutation	SNP	T	C3L-02365_TP	96981	57290854	1326762	364	9840											
ZNF543	0	.	GRCh38	chr19	57327839	57327839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaatccaaggatcaggatgGgccatctgaaatgcaagaag	15	6	12	8	0	2	2	1	1	1	1	3	4	3	4	2	3	1	2	2	3	5	0	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.377G>T	p.Gly126Val	p.G126V	ENST00000321545	4/4	211	135	76	210	210	0	strelka-varscan-mutect	ZNF543,missense_variant,p.Gly126Val,ENST00000321545,NM_213598.3;	T	ENST00000321545	Transcript	missense_variant	722/3659	377/1803	126/600	G/V	gGg/gTg		1		1	ZNF543	HGNC	HGNC:25281	protein_coding	YES	CCDS33130.1	ENSP00000322545	Q08ER8		UPI00001D8197	NM_213598.3	tolerated(0.16)		4/4																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	57327839	57327839	G	T	1	0	0	0	0	1	0	0	0	18550	1232	43	2		2	ZNF543	19	57327839	Missense_Mutation	SNP	G	C3L-02365_TP	36985	57327839	1289777	365	9841											
C19orf18	0	.	GRCh38	chr19	57961488	57961488	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttcatctcctaataaCggtatcctgaggttcttata	9	17	5	10	1	5	1	1	1	4	0	7	1	6	1	2	2	1	2	2	2	5	8	rs199764366		C3L-02365_TP	C3L-02365_NB	C	C																c.435G>C	p.=	p.P145P	ENST00000314391	5/6	168	123	45	198	198	0	strelka-varscan-mutect	C19orf18,synonymous_variant,p.=,ENST00000314391,NM_152474.4;	G	ENST00000314391	Transcript	synonymous_variant	537/915	435/648	145/215	P	ccG/ccC	rs199764366	1		-1	C19orf18	HGNC	HGNC:28642	protein_coding	YES	CCDS12967.1	ENSP00000321519	Q8NEA5		UPI000006D09E	NM_152474.4			5/6		hmmpanther:PTHR38000																	LOW	1	SNV	1			1										PASS		rs199764366	.												G	2	3	34	57961488	57961488	C	G	1	0	0	0	0	0	0	0	1	1904	523	19	4		4	C19orf18	19	57961488	Silent	SNP	C	C3L-02365_TP	633649	57961488	656128	366	9842											
C20orf194	0	.	GRCh38	chr20	3298145	3298145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgagcttttgaagtctaTgagaagagcagcaacagtac	15	9	10	7	0	1	4	0	3	1	2	1	5	1	4	0	0	5	4	0	0	6	4	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.1813A>G	p.Ile605Val	p.I605V	ENST00000252032	22/37	189	91	98	157	157	0	strelka-varscan-mutect	C20orf194,missense_variant,p.Ile605Val,ENST00000252032,NM_001009984.2;C20orf194,non_coding_transcript_exon_variant,,ENST00000619760,;	C	ENST00000252032	Transcript	missense_variant	1881/6869	1813/3534	605/1177	I/V	Ata/Gta		1		-1	C20orf194	HGNC	HGNC:17721	protein_coding	YES	CCDS42851.1	ENSP00000252032	Q5TEA3		UPI0000470A8D	NM_001009984.2	tolerated(0.69)		22/37		hmmpanther:PTHR33664,hmmpanther:PTHR33664:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	34	3298145	3298145	T	C	1	0	0	0	0	1	0	0	0	2005	1464	51	5		5	C20orf194	20	3298145	Missense_Mutation	SNP	T	C3L-02365_TP		3298145	61146022	367	9843											
SNAP25	0	.	GRCh38	chr20	10297003	10297003	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagccagcctgctcgtgtAgtggacgaacgggagcagat	9	6	15	11	3	0	1	0	0	0	1	1	4	0	3	3	2	5	3	3	2	2	1	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.360A>G	p.=	p.V120V	ENST00000254976	6/8	78	70	8	88	88	0	strelka-varscan-mutect	SNAP25,synonymous_variant,p.=,ENST00000254976,NM_130811.2;SNAP25,synonymous_variant,p.=,ENST00000304886,NM_003081.3;SNAP25,downstream_gene_variant,,ENST00000430336,;SNAP25-AS1,intron_variant,,ENST00000421143,;SNAP25-AS1,intron_variant,,ENST00000453544,;SNAP25,non_coding_transcript_exon_variant,,ENST00000495883,;	G	ENST00000254976	Transcript	synonymous_variant	571/2053	360/621	120/206	V	gtA/gtG		1		1	SNAP25	HGNC	HGNC:11132	protein_coding	YES	CCDS13110.1	ENSP00000254976	P60880		UPI0000001103	NM_130811.2			6/8		hmmpanther:PTHR19305,hmmpanther:PTHR19305:SF5,Pfam_domain:PF00835																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	34	10297003	10297003	A	G	1	0	0	0	0	0	0	0	1	15151	407	15	5		5	SNAP25	20	10297003	Silent	SNP	A	C3L-02365_TP	6998858	10297003	54147164	368	9844											
SSTR4	0	.	GRCh38	chr20	23035930	23035930	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccgctacgtggccgtggtGcaccctctgcgcgcggcgac	4	6	15	16	7	1	0	0	0	1	0	1	2	1	0	3	3	3	2	3	3	1	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.447G>T	p.=	p.V149V	ENST00000255008	1/1	124	66	58	120	120	0	strelka-varscan-mutect	SSTR4,synonymous_variant,p.=,ENST00000255008,NM_001052.2;RP4-753D10.3,intron_variant,,ENST00000440921,;RP4-753D10.3,upstream_gene_variant,,ENST00000419734,;	T	ENST00000255008	Transcript	synonymous_variant	545/1427	447/1167	149/388	V	gtG/gtT		1		1	SSTR4	HGNC	HGNC:11333	protein_coding	YES	CCDS42856.1	ENSP00000255008	P31391		UPI000013CE7A	NM_001052.2			1/1		Transmembrane_helices:TMhelix,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF0																	LOW		SNV				1										PASS		.	.												T	2	4	34	23035930	23035930	G	T	1	0	0	0	0	0	0	0	1	15577	1306	46	2		2	SSTR4	20	23035930	Silent	SNP	G	C3L-02365_TP	12738927	23035930	41408237	369	9845											
GSS	0	.	GRCh38	chr20	34941750	34941750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccaggctttggcaattcCcagggccagtcccttgctgg	5	10	11	15	0	0	0	0	0	0	0	3	0	3	0	4	4	1	3	4	4	1	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.571G>A	p.Gly191Arg	p.G191R	ENST00000216951	6/13	515	422	93	390	390	0	strelka-varscan-mutect	GSS,missense_variant,p.Gly191Arg,ENST00000216951,NM_001322494.1,NM_000178.2;GSS,intron_variant,,ENST00000451957,;	T	ENST00000216951	Transcript	missense_variant	670/1922	571/1425	191/474	G/R	Gga/Aga		1		-1	GSS	HGNC	HGNC:4624	protein_coding	YES	CCDS13245.1	ENSP00000216951	P48637	V9HWJ1	UPI0000111B5F	NM_001322494.1,NM_000178.2	deleterious(0)		6/13		Gene3D:1m0wB04,Pfam_domain:PF03917,PIRSF_domain:PIRSF001558,hmmpanther:PTHR11130,Superfamily_domains:SSF56059,TIGRFAM_domain:TIGR01986																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	34941750	34941750	C	T	1	0	0	0	0	1	0	0	0	6713	632	22	3		3	GSS	20	34941750	Missense_Mutation	SNP	C	C3L-02365_TP	11905820	34941750	29502417	370	9846											
GTSF1L	0	.	GRCh38	chr20	43726304	43726304	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcttgctgactctttcgTgtcattttcacaaacaacct	8	16	4	13	1	4	1	2	1	2	0	6	1	4	1	1	0	3	1	1	0	2	4	rs369247239		C3L-02365_TP	C3L-02365_NB	T	T																c.391A>T	p.Thr131Ser	p.T131S	ENST00000373003	1/1	169	135	34	129	129	0	strelka-varscan-mutect	GTSF1L,missense_variant,p.Thr131Ser,ENST00000373003,NM_176791.3;GTSF1L,missense_variant,p.Thr106Ser,ENST00000373005,NM_001008901.1;	A	ENST00000373003	Transcript	missense_variant	695/835	391/447	131/148	T/S	Acg/Tcg	rs369247239	1		-1	GTSF1L	HGNC	HGNC:16198	protein_coding	YES	CCDS13323.1	ENSP00000362094	Q9H1H1		UPI00001285E6	NM_176791.3	tolerated(1)		1/1		hmmpanther:PTHR21402:SF3,hmmpanther:PTHR21402																	MODERATE	1	SNV				1										PASS		rs369247239	.												A	3	1	34	43726304	43726304	T	A	1	0	0	0	0	1	0	0	0	6768	1696	59	4		4	GTSF1L	20	43726304	Missense_Mutation	SNP	T	C3L-02365_TP	8784554	43726304	20717863	371	9847											
CSTF1	0	.	GRCh38	chr20	56403605	56403605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccgagcggagaaacctgCtgtcgttggggcacaacaat	11	6	13	11	3	0	1	0	0	0	1	1	3	0	1	2	3	5	3	2	3	3	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1174C>T	p.=	p.L392L	ENST00000217109	6/6	502	427	75	307	306	1	strelka-varscan-mutect	CSTF1,synonymous_variant,p.=,ENST00000217109,NM_001033521.1,NM_001324.2,NM_001033522.1;CSTF1,downstream_gene_variant,,ENST00000415828,;CSTF1,downstream_gene_variant,,ENST00000452950,;CSTF1,3_prime_UTR_variant,,ENST00000493039,;CSTF1,downstream_gene_variant,,ENST00000490539,;	T	ENST00000217109	Transcript	synonymous_variant	1526/4290	1174/1296	392/431	L	Ctg/Ttg		1		1	CSTF1	HGNC	HGNC:2483	protein_coding	YES	CCDS13452.1	ENSP00000217109	Q05048		UPI0000000C1E	NM_001033521.1,NM_001324.2,NM_001033522.1			6/6		PROSITE_profiles:PS50294,hmmpanther:PTHR22840,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	34	56403605	56403605	C	T	1	0	0	0	0	0	0	0	1	3783	796	28	3		3	CSTF1	20	56403605	Silent	SNP	C	C3L-02365_TP	12677301	56403605	8040562	372	9848											
CTCFL	0	.	GRCh38	chr20	57523720	57523720	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttactgtcttcactggcCaccatcacattctcctctag	9	13	4	15	0	5	0	2	0	3	0	6	0	5	0	3	1	2	0	3	1	3	4	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.486G>T	p.=	p.V162V	ENST00000423479	2/12	279	147	132	198	197	1	strelka-varscan-mutect	CTCFL,synonymous_variant,p.=,ENST00000608263,NM_001269041.1;CTCFL,synonymous_variant,p.=,ENST00000429804,NM_001269046.1;CTCFL,synonymous_variant,p.=,ENST00000609232,NM_080618.3;CTCFL,synonymous_variant,p.=,ENST00000243914,;CTCFL,synonymous_variant,p.=,ENST00000371196,NM_001269042.1,NM_001269040.1;CTCFL,synonymous_variant,p.=,ENST00000422869,NM_001269047.1;CTCFL,synonymous_variant,p.=,ENST00000432255,NM_001269048.1;CTCFL,synonymous_variant,p.=,ENST00000608425,NM_001269045.1;CTCFL,synonymous_variant,p.=,ENST00000608440,NM_001269044.1;CTCFL,synonymous_variant,p.=,ENST00000423479,NM_001269043.1;CTCFL,synonymous_variant,p.=,ENST00000608158,NM_001269052.1;CTCFL,synonymous_variant,p.=,ENST00000481655,NM_001269051.1;CTCFL,intron_variant,,ENST00000539382,NM_001269050.1;CTCFL,intron_variant,,ENST00000433949,NM_001269049.1;CTCFL,intron_variant,,ENST00000608903,NM_001269055.1;CTCFL,intron_variant,,ENST00000502686,NM_001269054.1;CTCFL,intron_variant,,ENST00000608858,;CTCFL,synonymous_variant,p.=,ENST00000426658,;CTCFL,synonymous_variant,p.=,ENST00000422109,;CTCFL,synonymous_variant,p.=,ENST00000608720,;CTCFL,non_coding_transcript_exon_variant,,ENST00000607923,;CTCFL,intron_variant,,ENST00000608108,;	A	ENST00000423479	Transcript	synonymous_variant	577/2478	486/2103	162/700	V	gtG/gtT		1		-1	CTCFL	HGNC	HGNC:16234	protein_coding	YES	CCDS58780.1	ENSP00000415579	Q8NI51		UPI000157860F	NM_001269043.1			2/12																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	34	57523720	57523720	C	A	1	0	0	0	0	0	0	0	1	3808	581	21	2		2	CTCFL	20	57523720	Silent	SNP	C	C3L-02365_TP	1120115	57523720	6920447	373	9849											
RGS19	0	.	GRCh38	chr20	64076871	64076871	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatacctgcttctcagcctCatgcggggtgggcatgggtg	5	10	15	11	1	2	0	2	0	1	0	3	0	2	0	2	4	4	3	2	4	1	2	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.16G>T	p.Glu6Ter	p.E6*	ENST00000395042	2/6	79	69	10	52	52	0	strelka-varscan-mutect	RGS19,stop_gained,p.Glu6Ter,ENST00000395042,NM_005873.2;RGS19,stop_gained,p.Glu6Ter,ENST00000332298,NM_001039467.1;OPRL1,upstream_gene_variant,,ENST00000336866,NM_001318853.1,NM_182647.2;OPRL1,upstream_gene_variant,,ENST00000355631,NM_001318854.1,NM_000913.4;TCEA2,downstream_gene_variant,,ENST00000395053,;TCEA2,downstream_gene_variant,,ENST00000361317,NM_198723.1;TCEA2,downstream_gene_variant,,ENST00000343484,NM_003195.4;TCEA2,downstream_gene_variant,,ENST00000458442,;MIR6813,downstream_gene_variant,,ENST00000621638,;RGS19,non_coding_transcript_exon_variant,,ENST00000493165,;RGS19,intron_variant,,ENST00000479996,;TCEA2,downstream_gene_variant,,ENST00000465111,;TCEA2,downstream_gene_variant,,ENST00000461072,;TCEA2,downstream_gene_variant,,ENST00000475236,;TCEA2,downstream_gene_variant,,ENST00000495168,;TCEA2,downstream_gene_variant,,ENST00000465433,;TCEA2,downstream_gene_variant,,ENST00000477783,;	A	ENST00000395042	Transcript	stop_gained	283/1593	16/654	6/217	E/*	Gag/Tag		1		-1	RGS19	HGNC	HGNC:13735	protein_coding	YES	CCDS13555.1	ENSP00000378483	P49795		UPI0000133838	NM_005873.2			2/6		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF145																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	34	64076871	64076871	C	A	1	0	0	0	0	0	1	0	0	13472	835	29	2		2	RGS19	20	64076871	Nonsense_Mutation	SNP	C	C3L-02365_TP	6553151	64076871	367296	374	9850											
CLDN17	0	.	GRCh38	chr21	30166353	30166353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggcgatcaaggagagagCaacagccacacacatgaggg	15	2	14	10	1	1	2	1	1	0	1	1	5	1	3	1	3	3	1	1	3	2	0	rs745577971		C3L-02365_TP	C3L-02365_NB	C	C																c.265G>T	p.Ala89Ser	p.A89S	ENST00000286808	1/1	220	185	35	205	205	0	strelka-varscan-mutect	CLDN17,missense_variant,p.Ala89Ser,ENST00000286808,NM_012131.2;	A	ENST00000286808	Transcript	missense_variant	404/1193	265/675	89/224	A/S	Gct/Tct	rs745577971	1		-1	CLDN17	HGNC	HGNC:2038	protein_coding	YES	CCDS13586.1	ENSP00000286808	P56750		UPI000004E655	NM_012131.2	deleterious(0.01)		1/1		Pfam_domain:PF00822,Prints_domain:PR01077,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF75,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs745577971	.												A	3	1	34	30166353	30166353	C	A	1	0	0	0	0	1	0	0	0	3242	710	25	2		2	CLDN17	21	30166353	Missense_Mutation	SNP	C	C3L-02365_TP		30166353	16543630	375	9851											
TIAM1	0	.	GRCh38	chr21	31182478	31182478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcggcagggccgtccaCtcggtggggcgggctttcca	5	7	17	12	4	0	0	0	0	0	0	4	0	2	0	3	7	0	2	3	7	1	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2830G>A	p.Val944Met	p.V944M	ENST00000286827	16/29	106	88	18	91	91	0	strelka-varscan-mutect	TIAM1,missense_variant,p.Val944Met,ENST00000286827,NM_003253.2;TIAM1,missense_variant,p.Val884Met,ENST00000541036,;	T	ENST00000286827	Transcript	missense_variant	3302/7200	2830/4776	944/1591	V/M	Gtg/Atg		1		-1	TIAM1	HGNC	HGNC:11805	protein_coding	YES	CCDS13609.1	ENSP00000286827	Q13009		UPI000013DE6F	NM_003253.2	tolerated(0.23)		16/29																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	31182478	31182478	C	T	1	0	0	0	0	1	0	0	0	16324	565	20	3		3	TIAM1	21	31182478	Missense_Mutation	SNP	C	C3L-02365_TP	1016125	31182478	15527505	376	9852											
TIAM1	0	.	GRCh38	chr21	31251979	31251979	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgttggtggtgctcatctCcagctcccgccggaagttct	4	12	12	13	2	3	0	1	0	2	0	5	1	4	1	3	3	2	5	3	3	1	2	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.1174G>T	p.Glu392Ter	p.E392*	ENST00000286827	6/29	395	330	65	358	355	3	strelka-varscan-mutect	TIAM1,stop_gained,p.Glu392Ter,ENST00000286827,NM_003253.2;TIAM1,stop_gained,p.Glu392Ter,ENST00000541036,;TIAM1,non_coding_transcript_exon_variant,,ENST00000469412,;	A	ENST00000286827	Transcript	stop_gained	1646/7200	1174/4776	392/1591	E/*	Gag/Tag		1		-1	TIAM1	HGNC	HGNC:11805	protein_coding	YES	CCDS13609.1	ENSP00000286827	Q13009		UPI000013DE6F	NM_003253.2			6/29		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF88																	HIGH	1	SNV	1			1										PASS		rs1490194529	.												A	4	1	34	31251979	31251979	C	A	1	0	0	0	0	0	1	0	0	16324	864	30	2		2	TIAM1	21	31251979	Nonsense_Mutation	SNP	C	C3L-02365_TP	69501	31251979	15458004	377	9853											
POTEH	0	.	GRCh38	chr22	15690224	15690224	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcacttctggagaccaCgacgattctgctatgaagac	10	9	12	10	2	2	3	0	1	2	2	2	6	2	3	1	2	1	2	1	2	2	3	rs369197112		C3L-02365_TP	C3L-02365_NB	C	C																c.147C>T	p.=	p.H49H	ENST00000343518	1/11	660	578	82	456	456	0	varscan-mutect	POTEH,synonymous_variant,p.=,ENST00000343518,NM_001136213.1;POTEH,synonymous_variant,p.=,ENST00000621704,;POTEH,upstream_gene_variant,,ENST00000452800,;	T	ENST00000343518	Transcript	synonymous_variant	199/1928	147/1638	49/545	H	caC/caT	rs369197112	1		1	POTEH	HGNC	HGNC:133	protein_coding	YES	CCDS74808.1	ENSP00000340610	Q6S545		UPI0000E5A425	NM_001136213.1			1/11																			LOW	1	SNV	5			1										PASS		rs369197112	.												T	2	4	34	15690224	15690224	C	T	1	0	0	0	0	0	0	0	1	12381	535	19	1		1	POTEH	22	15690224	Silent	SNP	C	C3L-02365_TP		15690224	35128244	378	9854											
CECR2	0	.	GRCh38	chr22	17504978	17504978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctacaagctcctcagtgagGacttcctgcctgagatctgc	8	11	9	13	0	3	2	1	2	2	1	5	4	5	3	3	1	4	1	3	1	2	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.343G>T	p.Asp115Tyr	p.D115Y	ENST00000400585	7/19	192	100	92	160	160	0	strelka-varscan-mutect	CECR2,missense_variant,p.Asp256Tyr,ENST00000612582,;CECR2,missense_variant,p.Asp278Tyr,ENST00000342247,NM_001290047.1;CECR2,missense_variant,p.Asp115Tyr,ENST00000400585,NM_001290046.1;CECR2,missense_variant,p.Asp115Tyr,ENST00000262608,;	T	ENST00000400585	Transcript	missense_variant	781/4833	343/3903	115/1300	D/Y	Gac/Tac		1		1	CECR2	HGNC	HGNC:1840	protein_coding	YES	CCDS77646.1	ENSP00000383428		B7WPH3	UPI000198C520	NM_001290046.1	deleterious(0)		7/19		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF123																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	17504978	17504978	G	T	1	0	0	0	0	1	0	0	0	2913	1174	41	2		2	CECR2	22	17504978	Missense_Mutation	SNP	G	C3L-02365_TP	1814754	17504978	33313490	379	9855											
TBX1	0	.	GRCh38	chr22	19766503	19766503	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctaagcccctcgctgcccgGggccggcggcgccggcggct	2	4	17	18	7	0	0	0	0	0	0	1	0	0	0	5	6	2	3	5	6	1	1	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1124G>T	p.Gly375Val	p.G375V	ENST00000332710	9/9	106	60	46	125	125	0	strelka-varscan-mutect	TBX1,missense_variant,p.Gly375Val,ENST00000332710,NM_080647.1;TBX1,intron_variant,,ENST00000359500,NM_005992.1;TBX1,intron_variant,,ENST00000329705,NM_080646.1;TBX1,intron_variant,,ENST00000621939,;TBX1,downstream_gene_variant,,ENST00000475303,;TBX1,downstream_gene_variant,,ENST00000484336,;	T	ENST00000332710	Transcript	missense_variant	1253/2084	1124/1488	375/495	G/V	gGg/gTg		1		1	TBX1	HGNC	HGNC:11592	protein_coding	YES	CCDS13767.1	ENSP00000331791	O43435	D9ZGG0	UPI0000073068	NM_080647.1	tolerated_low_confidence(0.81)		9/9		Low_complexity_(Seg):seg,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF104																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	19766503	19766503	G	T	1	0	0	0	0	1	0	0	0	16055	1232	43	2		2	TBX1	22	19766503	Missense_Mutation	SNP	G	C3L-02365_TP	2261525	19766503	31051965	380	9856											
AIFM3	0	.	GRCh38	chr22	20977999	20977999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacattggcagatggctcatGctcagggtatggccagtccc	8	9	12	12	0	2	1	2	0	0	1	3	1	3	1	2	4	1	4	2	4	1	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.1471G>T	p.Ala491Ser	p.A491S	ENST00000399167	16/21	199	106	93	158	158	0	strelka-varscan-mutect	AIFM3,missense_variant,p.Ala491Ser,ENST00000399167,NM_144704.2;AIFM3,missense_variant,p.Ala491Ser,ENST00000440238,;AIFM3,missense_variant,p.Ala497Ser,ENST00000405089,NM_001146288.1;AIFM3,missense_variant,p.Ala491Ser,ENST00000399163,NM_001018060.2;LZTR1,upstream_gene_variant,,ENST00000215739,NM_006767.3;AIFM3,downstream_gene_variant,,ENST00000434714,;AIFM3,downstream_gene_variant,,ENST00000441376,;XXbac-B135H6.18,downstream_gene_variant,,ENST00000610278,;AIFM3,non_coding_transcript_exon_variant,,ENST00000465606,;AIFM3,non_coding_transcript_exon_variant,,ENST00000483107,;LZTR1,upstream_gene_variant,,ENST00000479606,;AIFM3,downstream_gene_variant,,ENST00000468124,;AIFM3,downstream_gene_variant,,ENST00000496097,;AIFM3,non_coding_transcript_exon_variant,,ENST00000486003,;LZTR1,upstream_gene_variant,,ENST00000414985,;AIFM3,downstream_gene_variant,,ENST00000417515,;LZTR1,upstream_gene_variant,,ENST00000443265,;AIFM3,downstream_gene_variant,,ENST00000484206,;AIFM3,downstream_gene_variant,,ENST00000472575,;AIFM3,downstream_gene_variant,,ENST00000467926,;AIFM3,downstream_gene_variant,,ENST00000426113,;LZTR1,upstream_gene_variant,,ENST00000493460,;	T	ENST00000399167	Transcript	missense_variant	1711/2387	1471/1818	491/605	A/S	Gct/Tct		1		1	AIFM3	HGNC	HGNC:26398	protein_coding	YES	CCDS13786.1	ENSP00000382120	Q96NN9		UPI0000071A61	NM_144704.2	tolerated(0.14)		16/21		Gene3D:3.50.50.60,Pfam_domain:PF07992,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF174,Superfamily_domains:SSF51905																	MODERATE		SNV	2			1										PASS		rs1363812641	.												T	3	4	34	20977999	20977999	G	T	1	0	0	0	0	1	0	0	0	505	1319	46	2		2	AIFM3	22	20977999	Missense_Mutation	SNP	G	C3L-02365_TP	1211496	20977999	29840469	381	9857											
P2RX6	0	.	GRCh38	chr22	21023516	21023516	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctatgtgcagggtggctCtgtaggcatcagagttcact	7	12	14	8	0	3	1	2	0	1	1	3	1	3	1	0	3	2	6	0	3	2	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.788C>G	p.Ser263Cys	p.S263C	ENST00000413302	8/12	468	420	48	169	169	0	strelka-varscan-mutect	P2RX6,missense_variant,p.Ser263Cys,ENST00000413302,NM_005446.3;P2RX6,missense_variant,p.Ser237Cys,ENST00000401443,NM_001159554.1;P2RX6,3_prime_UTR_variant,,ENST00000442475,;P2RX6,3_prime_UTR_variant,,ENST00000432930,;P2RX6,3_prime_UTR_variant,,ENST00000422210,;P2RX6,non_coding_transcript_exon_variant,,ENST00000487342,;P2RX6,downstream_gene_variant,,ENST00000469722,;P2RX6,downstream_gene_variant,,ENST00000452228,;	G	ENST00000413302	Transcript	missense_variant	936/3687	788/1326	263/441	S/C	tCt/tGt		1		1	P2RX6	HGNC	HGNC:8538	protein_coding	YES	CCDS13788.2	ENSP00000416193	O15547		UPI000013C698	NM_005446.3	tolerated(0.07)		8/12		Gene3D:3h9vA02,Pfam_domain:PF00864,PIRSF_domain:PIRSF005713,Prints_domain:PR01307,PROSITE_patterns:PS01212,hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF21,TIGRFAM_domain:TIGR00863																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	21023516	21023516	C	G	1	0	0	0	0	1	0	0	0	11417	913	32	4		4	P2RX6	22	21023516	Missense_Mutation	SNP	C	C3L-02365_TP	45517	21023516	29794952	382	9858											
RSPH14	0	.	GRCh38	chr22	23140277	23140277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgaggtcacacaaggcCatgagggctttctgcctcgt	8	10	12	11	1	2	2	1	2	1	0	3	2	2	2	2	3	2	2	2	3	1	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.144G>T	p.Met48Ile	p.M48I	ENST00000216036	2/7	405	217	188	390	390	0	strelka-varscan-mutect	RSPH14,missense_variant,p.Met48Ile,ENST00000216036,NM_014433.2;RSPH14,missense_variant,p.Met48Ile,ENST00000406876,;RSPH14,missense_variant,p.Met8Ile,ENST00000452757,;RSPH14,upstream_gene_variant,,ENST00000439064,;U7,upstream_gene_variant,,ENST00000459276,;	A	ENST00000216036	Transcript	missense_variant	341/1291	144/1047	48/348	M/I	atG/atT		1		-1	RSPH14	HGNC	HGNC:13437	protein_coding	YES	CCDS13803.1	ENSP00000216036	Q9UHP6		UPI000004A0CE	NM_014433.2	deleterious(0.04)		2/7		Gene3D:1.25.10.10,hmmpanther:PTHR15599,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	23140277	23140277	C	A	1	0	0	0	0	1	0	0	0	13962	594	21	2		2	RSPH14	22	23140277	Missense_Mutation	SNP	C	C3L-02365_TP	2116761	23140277	27678191	383	9859											
WWC3	0	.	GRCh38	chrX	10126233	10126233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcagaatccccgtgcattCcagcgcgttgacactgaagt	9	10	10	12	3	1	3	1	2	0	1	3	3	3	3	3	0	2	3	3	0	2	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2033C>A	p.Ser678Tyr	p.S678Y	ENST00000380861	15/23	197	175	22	234	234	0	strelka-varscan-mutect	WWC3,missense_variant,p.Ser678Tyr,ENST00000380861,NM_015691.3;	A	ENST00000380861	Transcript	missense_variant	2424/6647	2033/3279	678/1092	S/Y	tCc/tAc		1		1	WWC3	HGNC	HGNC:29237	protein_coding	YES	CCDS14136.1	ENSP00000370242	Q9ULE0		UPI0000225CDE	NM_015691.3	tolerated(0.61)		15/23		hmmpanther:PTHR14791:SF25,hmmpanther:PTHR14791,Gene3D:2.60.40.150,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	10126233	10126233	C	A	1	0	0	0	0	1	0	0	0	17971	855	30	2		2	WWC3	23	10126233	Missense_Mutation	SNP	C	C3L-02365_TP		10126233	145914662	384	9860											
NYX	0	.	GRCh38	chrX	41474804	41474804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagcctctcctcccgtgggGtgggaggcgcgggccggcag	4	5	18	14	4	1	0	0	0	1	0	3	1	2	1	4	6	1	1	4	6	0	0			C3L-02365_TP	C3L-02365_NB	G	G																c.1351G>T	p.Val451Leu	p.V451L	ENST00000342595	2/2	88	66	22	109	108	1	strelka-varscan-mutect	NYX,missense_variant,p.Val451Leu,ENST00000342595,NM_022567.2;NYX,missense_variant,p.Val451Leu,ENST00000378220,;NYX,downstream_gene_variant,,ENST00000486842,;RP1-169I5.4,upstream_gene_variant,,ENST00000451718,;	T	ENST00000342595	Transcript	missense_variant	1807/2713	1351/1446	451/481	V/L	Gtg/Ttg	COSM1331867	1		1	NYX	HGNC	HGNC:8082	protein_coding	YES	CCDS14256.1	ENSP00000340328	Q9GZU5		UPI0000130B37	NM_022567.2	tolerated_low_confidence(0.19)		2/2		Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	34	41474804	41474804	G	T	1	0	0	0	0	1	0	0	0	10875	1261	44	2		2	NYX	23	41474804	Missense_Mutation	SNP	G	C3L-02365_TP	31348571	41474804	114566091	385	9861											
AMER1	0	.	GRCh38	chrX	64191058	64191058	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgaataagtagggtaggcCctcctgggagatcctccaaa	11	8	13	9	0	0	2	0	1	0	1	3	3	3	2	4	4	0	2	4	4	5	3	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.2229G>C	p.Arg743Ser	p.R743S	ENST00000330258	2/2	335	185	150	360	360	0	strelka-varscan-mutect	AMER1,missense_variant,p.Arg743Ser,ENST00000330258,NM_152424.3;AMER1,missense_variant,p.Arg743Ser,ENST00000374869,;	G	ENST00000330258	Transcript	missense_variant	2502/8443	2229/3408	743/1135	R/S	agG/agC		1		-1	AMER1	HGNC	HGNC:26837	protein_coding	YES	CCDS14377.2	ENSP00000329117	Q5JTC6		UPI0000EDA0FC	NM_152424.3	tolerated(0.14)		2/2		hmmpanther:PTHR22237:SF0,hmmpanther:PTHR22237																	MODERATE	1	SNV	1			1										PASS		rs1484155916	.												G	3	3	34	64191058	64191058	C	G	1	0	0	0	0	1	0	0	0	667	622	22	4		4	AMER1	23	64191058	Missense_Mutation	SNP	C	C3L-02365_TP	22716254	64191058	91849837	386	9862											
HEPH	0	.	GRCh38	chrX	66203381	66203381	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggacatttgagatttatTgccaggcaggcagccatcga	11	9	12	9	1	0	1	0	1	0	1	1	4	0	2	2	3	2	2	2	3	1	4	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.2257T>G	p.Cys753Gly	p.C753G	ENST00000519389	13/21	160	120	40	137	137	0	strelka-varscan-mutect	HEPH,missense_variant,p.Cys753Gly,ENST00000519389,NM_138737.4;HEPH,missense_variant,p.Cys699Gly,ENST00000343002,;HEPH,missense_variant,p.Cys702Gly,ENST00000441993,NM_001130860.3;HEPH,missense_variant,p.Cys432Gly,ENST00000336279,NM_014799.3;HEPH,missense_variant,p.Cys510Gly,ENST00000419594,NM_001282141.1;HEPH,missense_variant,p.Cys656Gly,ENST00000425114,;HEPH,non_coding_transcript_exon_variant,,ENST00000471121,;	G	ENST00000519389	Transcript	missense_variant	2436/6013	2257/3639	753/1212	C/G	Tgc/Ggc		1		1	HEPH	HGNC	HGNC:4866	protein_coding	YES	CCDS14384.3	ENSP00000430620	Q9BQS7		UPI0001C06560	NM_138737.4	deleterious(0)		13/21		hmmpanther:PTHR10127:SF622,hmmpanther:PTHR10127,PROSITE_patterns:PS00079,Gene3D:2.60.40.420,Superfamily_domains:SSF49503																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	66203381	66203381	T	G	1	0	0	0	0	1	0	0	0	6938	1812	63	5		5	HEPH	23	66203381	Missense_Mutation	SNP	T	C3L-02365_TP	2012323	66203381	89837514	387	9863											
SLC7A3	0	.	GRCh38	chrX	70925839	70925839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtggacatagagagtgcCgggatcaaggtctacagttt	11	10	14	6	1	2	2	1	1	1	1	2	5	2	4	1	3	2	1	1	3	3	3			C3L-02365_TP	C3L-02365_NB	C	C																c.1834G>A	p.Gly612Ser	p.G612S	ENST00000374299	12/12	162	127	35	203	203	0	strelka-varscan-mutect	SLC7A3,missense_variant,p.Gly612Ser,ENST00000374299,;SLC7A3,missense_variant,p.Gly612Ser,ENST00000298085,NM_001048164.2,NM_032803.5;	T	ENST00000374299	Transcript	missense_variant	1979/2236	1834/1860	612/619	G/S	Ggc/Agc	COSM1226577	1		-1	SLC7A3	HGNC	HGNC:11061	protein_coding	YES	CCDS14404.1	ENSP00000363417	Q8WY07		UPI0000049F96		tolerated(0.27)		12/12		hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF209											1						MODERATE	1	SNV	1		1	1										PASS		rs1372449309	.												T	3	4	34	70925839	70925839	C	T	1	0	0	0	0	1	0	0	0	14981	652	23	1		1	SLC7A3	23	70925839	Missense_Mutation	SNP	C	C3L-02365_TP	4722458	70925839	85115056	388	9864											
GPR174	0	.	GRCh38	chrX	79171810	79171810	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaagctgcctagccagaaGggtgattctaatatttcatt	13	13	8	7	0	2	2	1	1	1	1	2	2	2	2	2	1	3	1	2	1	6	7	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.803G>C	p.Arg268Thr	p.R268T	ENST00000276077	1/1	111	102	9	165	165	0	strelka-varscan-mutect	GPR174,missense_variant,p.Arg268Thr,ENST00000276077,NM_032553.1;	C	ENST00000276077	Transcript	missense_variant	839/1258	803/1002	268/333	R/T	aGg/aCg		1		1	GPR174	HGNC	HGNC:30245	protein_coding	YES	CCDS14443.1	ENSP00000276077	Q9BXC1		UPI0000050477	NM_032553.1	tolerated(0.22)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF4,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	34	79171810	79171810	G	C	1	0	0	0	0	1	0	0	0	6556	1000	35	4		4	GPR174	23	79171810	Missense_Mutation	SNP	G	C3L-02365_TP	8245971	79171810	76869085	389	9865											
APOOL	0	.	GRCh38	chrX	85046477	85046477	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaccatgcctgcaggtcTgatatatgcatctgtaagtg	11	11	10	9	0	2	1	0	1	2	0	2	2	2	1	2	1	4	3	2	1	4	3	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.47T>G	p.Leu16Arg	p.L16R	ENST00000373173	2/9	244	224	20	323	323	0	strelka-varscan-mutect	APOOL,missense_variant,p.Leu11Arg,ENST00000622540,;APOOL,missense_variant,p.Leu16Arg,ENST00000613473,;APOOL,missense_variant,p.Leu16Arg,ENST00000373173,NM_198450.5;	G	ENST00000373173	Transcript	missense_variant	134/1279	47/807	16/268	L/R	cTg/cGg		1		1	APOOL	HGNC	HGNC:24009	protein_coding	YES	CCDS48138.1	ENSP00000362268	Q6UXV4		UPI00001D6936	NM_198450.5	deleterious(0)		2/9		hmmpanther:PTHR14564,hmmpanther:PTHR14564:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	34	85046477	85046477	T	G	1	0	0	0	0	1	0	0	0	936	1580	55	5		5	APOOL	23	85046477	Missense_Mutation	SNP	T	C3L-02365_TP	5874667	85046477	70994418	390	9866											
ZNF711	0	.	GRCh38	chrX	85255585	85255585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggctgaccttgttactGgtcctaatggacacttagaa	9	13	10	9	1	0	2	0	1	0	1	2	3	1	3	2	3	1	2	2	3	4	4	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.406G>C	p.Gly136Arg	p.G136R	ENST00000373165	4/9	178	108	70	253	253	0	strelka-varscan-mutect	ZNF711,missense_variant,p.Gly136Arg,ENST00000360700,;ZNF711,missense_variant,p.Gly136Arg,ENST00000373165,NM_021998.4;ZNF711,missense_variant,p.Gly136Arg,ENST00000276123,;	C	ENST00000373165	Transcript	missense_variant	712/4124	406/2286	136/761	G/R	Ggt/Cgt		1		1	ZNF711	HGNC	HGNC:13128	protein_coding	YES	CCDS35344.1	ENSP00000362260	Q9Y462		UPI0000212114	NM_021998.4	tolerated(0.51)		4/9		Pfam_domain:PF04704,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	34	85255585	85255585	G	C	1	0	0	0	0	1	0	0	0	18691	1348	47	4		4	ZNF711	23	85255585	Missense_Mutation	SNP	G	C3L-02365_TP	209108	85255585	70785310	391	9867											
H2BFWT	0	.	GRCh38	chrX	104013227	104013227	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatctgccccggcagcAgcaggcgcacagccatccgg	7	4	12	18	3	1	0	0	0	1	0	2	0	2	0	5	3	5	4	5	3	0	0	novel		C3L-02365_TP	C3L-02365_NB	A	A																c.434T>A	p.Leu145Gln	p.L145Q	ENST00000217926	1/3	151	93	58	169	169	0	strelka-varscan-mutect	H2BFWT,missense_variant,p.Leu145Gln,ENST00000217926,NM_001002916.4;H2BFWT,missense_variant,p.Leu145Gln,ENST00000611083,;	T	ENST00000217926	Transcript	missense_variant	461/894	434/528	145/175	L/Q	cTg/cAg		1		-1	H2BFWT	HGNC	HGNC:27252	protein_coding	YES	CCDS35362.1	ENSP00000354723	Q7Z2G1		UPI000019B16C	NM_001002916.4	deleterious(0)		1/3		hmmpanther:PTHR23428,hmmpanther:PTHR23428:SF27,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	104013227	104013227	A	T	1	0	0	0	0	1	0	0	0	6814	188	7	4		4	H2BFWT	23	104013227	Missense_Mutation	SNP	A	C3L-02365_TP	18757642	104013227	52027668	392	9868											
PAK3	0	.	GRCh38	chrX	111146567	111146567	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggaagctcccagaggTgcgtcacaggcccaaaagaa	13	3	12	13	1	1	2	1	0	0	2	2	3	2	3	3	3	2	1	3	3	4	0	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.384+2T>A		p.X128_splice	ENST00000360648		94	67	27	133	133	0	strelka-varscan-mutect	PAK3,splice_donor_variant,,ENST00000372010,;PAK3,splice_donor_variant,,ENST00000360648,NM_001128168.1;PAK3,splice_donor_variant,,ENST00000262836,NM_001128173.1;PAK3,splice_donor_variant,,ENST00000518291,;PAK3,splice_donor_variant,,ENST00000429193,;PAK3,intron_variant,,ENST00000372007,NM_001324327.1,NM_001324326.1,NM_001324331.1,NM_001324333.1,NM_001324332.1,NM_001324334.1,NM_001324328.1,NM_001324330.1,NM_001324325.1,NM_002578.3;PAK3,intron_variant,,ENST00000519681,;PAK3,intron_variant,,ENST00000446737,NM_001128166.1;PAK3,intron_variant,,ENST00000425146,NM_001128167.1;PAK3,intron_variant,,ENST00000417227,NM_001128172.1;PAK3,intron_variant,,ENST00000620137,;PAK3,intron_variant,,ENST00000487802,;	A	ENST00000360648	Transcript	splice_donor_variant	-/2241	384/1743	128/580				1		1	PAK3	HGNC	HGNC:8592	protein_coding	YES	CCDS48151.1	ENSP00000353864	O75914		UPI0000D61DBC	NM_001128168.1				4/15																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	34	111146567	111146567	T	A	1	0	0	0	0	0	0	1	0	11482	1710	59	4		4	PAK3	23	111146567	Splice_Site	SNP	T	C3L-02365_TP	7133340	111146567	44894328	393	9869											
PAK3	0	.	GRCh38	chrX	111192507	111192507	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttaattgccattcaggTggccataaagcagatgaacc	13	12	8	8	0	1	2	1	1	0	1	1	2	1	2	3	2	3	1	3	2	5	6	novel		C3L-02365_TP	C3L-02365_NB	T	T																c.989T>A	p.Val330Glu	p.V330E	ENST00000360648	11/16	238	211	27	355	355	0	strelka-varscan-mutect	PAK3,missense_variant,p.Val294Glu,ENST00000372007,NM_001324327.1,NM_001324326.1,NM_001324331.1,NM_001324333.1,NM_001324332.1,NM_001324334.1,NM_001324328.1,NM_001324330.1,NM_001324325.1,NM_002578.3;PAK3,missense_variant,p.Val315Glu,ENST00000519681,;PAK3,missense_variant,p.Val309Glu,ENST00000372010,;PAK3,missense_variant,p.Val294Glu,ENST00000446737,NM_001128166.1;PAK3,missense_variant,p.Val294Glu,ENST00000425146,NM_001128167.1;PAK3,missense_variant,p.Val330Glu,ENST00000360648,NM_001128168.1;PAK3,missense_variant,p.Val315Glu,ENST00000417227,NM_001128172.1;PAK3,missense_variant,p.Val309Glu,ENST00000262836,NM_001128173.1;PAK3,missense_variant,p.Val293Glu,ENST00000620137,;PAK3,missense_variant,p.Val330Glu,ENST00000518291,;	A	ENST00000360648	Transcript	missense_variant,splice_region_variant	1016/2241	989/1743	330/580	V/E	gTg/gAg		1		1	PAK3	HGNC	HGNC:8592	protein_coding	YES	CCDS48151.1	ENSP00000353864	O75914		UPI0000D61DBC	NM_001128168.1	deleterious(0)		11/16		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF250,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs1206499470	.												A	3	1	34	111192507	111192507	T	A	1	0	0	0	0	1	0	0	0	11482	1710	59	4		4	PAK3	23	111192507	Missense_Mutation	SNP	T	C3L-02365_TP	45940	111192507	44848388	394	9870											
GLUD2	0	.	GRCh38	chrX	121048417	121048417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacctatgccagcaccataGggcactatgatattaatgca	14	10	7	10	0	0	1	0	1	0	0	0	1	0	1	3	1	4	3	3	1	6	6	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.733G>A	p.Gly245Arg	p.G245R	ENST00000328078	1/1	447	272	175	472	472	0	strelka-varscan-mutect	GLUD2,missense_variant,p.Gly245Arg,ENST00000328078,NM_012084.3;	A	ENST00000328078	Transcript	missense_variant	830/2493	733/1677	245/558	G/R	Ggg/Agg		1		1	GLUD2	HGNC	HGNC:4336	protein_coding	YES	CCDS14603.1	ENSP00000327589	P49448	A0A140VK14	UPI0000129301	NM_012084.3	deleterious(0.01)		1/1		Gene3D:3.40.192.10,hmmpanther:PTHR11606,hmmpanther:PTHR11606:SF15,Superfamily_domains:SSF53223																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	34	121048417	121048417	G	A	1	0	0	0	0	1	0	0	0	6354	1000	35	3		3	GLUD2	23	121048417	Missense_Mutation	SNP	G	C3L-02365_TP	9855910	121048417	34992478	395	9871											
IGSF1	0	.	GRCh38	chrX	131273859	131273859	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgaaggagaattggcaggGgtgcctggttctccttcttg	7	12	15	7	0	2	2	0	1	2	1	3	4	2	2	2	5	1	2	2	5	2	4	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.3963C>A	p.=	p.T1321T	ENST00000370903	20/20	130	81	49	189	189	0	strelka-varscan-mutect	IGSF1,synonymous_variant,p.=,ENST00000370904,;IGSF1,synonymous_variant,p.=,ENST00000370903,NM_001170961.1;IGSF1,synonymous_variant,p.=,ENST00000370910,NM_001170962.1;IGSF1,synonymous_variant,p.=,ENST00000361420,NM_001555.4;IGSF1,downstream_gene_variant,,ENST00000467244,;	T	ENST00000370903	Transcript	synonymous_variant	4246/4594	3963/4026	1321/1341	T	acC/acA		1		-1	IGSF1	HGNC	HGNC:5948	protein_coding	YES	CCDS55491.1	ENSP00000359940	Q8N6C5		UPI0000E0C769	NM_001170961.1			20/20		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF102																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	34	131273859	131273859	G	T	1	0	0	0	0	0	0	0	1	7503	1219	43	2		2	IGSF1	23	131273859	Silent	SNP	G	C3L-02365_TP	10225442	131273859	24767036	396	9872											
MBNL3	0	.	GRCh38	chrX	132386730	132386730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggcagtggaaaacagtggGattaaagaccggggtggcac	12	7	16	6	1	0	1	0	0	0	1	0	3	0	3	1	6	1	2	1	6	4	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.853C>T	p.Pro285Ser	p.P285S	ENST00000370853	5/8	234	201	33	285	285	0	strelka-varscan-mutect	MBNL3,missense_variant,p.Pro235Ser,ENST00000538204,NM_001170702.1;MBNL3,missense_variant,p.Pro189Ser,ENST00000394311,NM_001170703.1;MBNL3,missense_variant,p.Pro285Ser,ENST00000370857,;MBNL3,missense_variant,p.Pro285Ser,ENST00000370853,NM_018388.3;MBNL3,missense_variant,p.Pro189Ser,ENST00000370844,NM_001170704.1;MBNL3,missense_variant,p.Pro235Ser,ENST00000370849,NM_001170701.1;MBNL3,missense_variant,p.Pro189Ser,ENST00000421707,;MBNL3,missense_variant,p.Pro189Ser,ENST00000436215,;MBNL3,missense_variant,p.Pro66Ser,ENST00000442191,;MBNL3,intron_variant,,ENST00000370839,NM_133486.2;RAP2C-AS1,intron_variant,,ENST00000441399,;RAP2C-AS1,intron_variant,,ENST00000421483,;MBNL3,non_coding_transcript_exon_variant,,ENST00000465964,;MBNL3,downstream_gene_variant,,ENST00000473364,;	A	ENST00000370853	Transcript	missense_variant	932/2661	853/1065	285/354	P/S	Ccc/Tcc		1		-1	MBNL3	HGNC	HGNC:20564	protein_coding	YES	CCDS14633.1	ENSP00000359890	Q9NUK0		UPI000012ED47	NM_018388.3	deleterious(0.03)		5/8		hmmpanther:PTHR12675,hmmpanther:PTHR12675:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	34	132386730	132386730	G	A	1	0	0	0	0	1	0	0	0	9287	1174	41	3		3	MBNL3	23	132386730	Missense_Mutation	SNP	G	C3L-02365_TP	1112871	132386730	23654165	397	9873											
CCDC160	0	.	GRCh38	chrX	134244920	134244920	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacaaacgactgcagatagCagcaagggaatggaagaaat	19	4	12	6	1	0	2	0	0	0	2	0	6	0	4	0	2	5	3	0	2	7	1	novel		C3L-02365_TP	C3L-02365_NB	C	C																c.120C>G	p.Ser40Arg	p.S40R	ENST00000517294	3/3	197	132	65	286	286	0	strelka-varscan-mutect	CCDC160,missense_variant,p.Ser40Arg,ENST00000517294,;CCDC160,missense_variant,p.Ser40Arg,ENST00000370809,NM_001101357.1;	G	ENST00000517294	Transcript	missense_variant	503/1790	120/978	40/325	S/R	agC/agG		1		1	CCDC160	HGNC	HGNC:37286	protein_coding	YES	CCDS48171.1	ENSP00000427951	A6NGH7		UPI00001993FD		tolerated(0.2)		3/3																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	34	134244920	134244920	C	G	1	0	0	0	0	1	0	0	0	2480	709	25	4		4	CCDC160	23	134244920	Missense_Mutation	SNP	C	C3L-02365_TP	1858190	134244920	21795975	398	9874											
VGLL1	0	.	GRCh38	chrX	136548786	136548786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcatttctcctccctggcgGgcaccagctccttagagcct	5	10	10	16	1	1	1	0	0	1	1	4	1	3	1	5	3	2	3	5	3	1	2	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.412G>T	p.Gly138Cys	p.G138C	ENST00000370634	3/5	309	180	129	344	344	0	strelka-varscan-mutect	VGLL1,missense_variant,p.Gly138Cys,ENST00000370634,NM_016267.3;VGLL1,missense_variant,p.Gly103Cys,ENST00000440515,;VGLL1,intron_variant,,ENST00000456412,;MIR934,upstream_gene_variant,,ENST00000401241,;VGLL1,upstream_gene_variant,,ENST00000470358,;	T	ENST00000370634	Transcript	missense_variant	582/1215	412/777	138/258	G/C	Ggc/Tgc		1		1	VGLL1	HGNC	HGNC:20985	protein_coding	YES	CCDS14658.1	ENSP00000359668	Q99990		UPI0000071D9A	NM_016267.3	deleterious(0.01)		3/5		hmmpanther:PTHR15950,hmmpanther:PTHR15950:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	34	136548786	136548786	G	T	1	0	0	0	0	1	0	0	0	17704	1232	43	2		2	VGLL1	23	136548786	Missense_Mutation	SNP	G	C3L-02365_TP	2303866	136548786	19492109	399	9875											
AFF2	0	.	GRCh38	chrX	148956566	148956566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccaagcgtcagacagctGtcacagctgtggagaaacca	14	5	10	12	1	2	2	2	0	0	2	2	3	2	2	2	1	5	2	2	1	3	0	novel		C3L-02365_TP	C3L-02365_NB	G	G																c.2521G>A	p.Val841Ile	p.V841I	ENST00000370460	11/21	145	91	54	173	173	0	strelka-varscan-mutect	AFF2,missense_variant,p.Val841Ile,ENST00000370460,NM_001169123.1,NM_002025.3;AFF2,missense_variant,p.Val482Ile,ENST00000286437,NM_001170628.1;AFF2,missense_variant,p.Val808Ile,ENST00000342251,NM_001169122.1;AFF2,missense_variant,p.Val806Ile,ENST00000370457,NM_001169124.1,NM_001169125.1;	A	ENST00000370460	Transcript	missense_variant	3000/13746	2521/3936	841/1311	V/I	Gtc/Atc		1		1	AFF2	HGNC	HGNC:3776	protein_coding	YES	CCDS14684.1	ENSP00000359489	P51816		UPI000049E130	NM_001169123.1,NM_002025.3	tolerated(0.19)		11/21		hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF18,Pfam_domain:PF05110																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	34	148956566	148956566	G	A	1	0	0	0	0	1	0	0	0	434	1377	48	3		3	AFF2	23	148956566	Missense_Mutation	SNP	G	C3L-02365_TP	12407780	148956566	7084329	400	9876											
LOR	0	.	GRCh38	chr1	153261030	153261030	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggtggcggtggcggCggcagcggcggtggtggctg	1	5	26	9	7	0	0	0	0	0	0	0	0	0	0	0	12	1	2	0	12	0	0	rs746792442		C3L-02508_TP	C3L-02508_NB	C	C																c.81C>T	p.=	p.G27G	ENST00000368742	2/2	94	84	10	43	43	0	varscan-mutect	LOR,synonymous_variant,p.=,ENST00000368742,NM_000427.2;	T	ENST00000368742	Transcript	synonymous_variant	138/1230	81/939	27/312	G	ggC/ggT	rs746792442	1		1	LOR	HGNC	HGNC:6663	protein_coding	YES	CCDS30870.1	ENSP00000357731	P23490		UPI0000470BBD	NM_000427.2			2/2		Low_complexity_(Seg):seg,PROSITE_profiles:PS51257,hmmpanther:PTHR39228,Pfam_domain:PF15847																	LOW	1	SNV	1			1										PASS		rs746792442	.												T	2	4	35	153261030	153261030	C	T	1	0	0	0	0	0	0	0	1	8799	755	27	1		1	LOR	1	153261030	Silent	SNP	C	C3L-02508_TP		153261030	95695392	1	9877											
PCNX2	0	.	GRCh38	chr1	233208583	233208583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcaggccatacacaacgTaactgggagggtgcctggct	9	8	13	11	1	1	0	1	0	0	0	1	1	1	1	2	4	4	3	2	4	3	3	novel		C3L-02508_TP	C3L-02508_NB	T	T																c.2798A>G	p.Tyr933Cys	p.Y933C	ENST00000258229	13/34	378	358	20	215	215	0	strelka-varscan-mutect	PCNX2,missense_variant,p.Tyr933Cys,ENST00000258229,NM_014801.3;PCNX2,missense_variant,p.Tyr66Cys,ENST00000430153,;PCNX2,missense_variant,p.Tyr66Cys,ENST00000488780,;PCNX2,missense_variant,p.Tyr102Cys,ENST00000518351,;PCNX2,missense_variant,p.Thr41Ala,ENST00000517808,;PCNX2,3_prime_UTR_variant,,ENST00000475463,;PCNX2,non_coding_transcript_exon_variant,,ENST00000324142,;PCNX2,downstream_gene_variant,,ENST00000519530,;	C	ENST00000258229	Transcript	missense_variant	3033/7518	2798/6414	933/2137	Y/C	tAc/tGc		1		-1	PCNX2	HGNC	HGNC:8736	protein_coding	YES	CCDS44335.1	ENSP00000258229	A6NKB5		UPI0000F58F23	NM_014801.3	deleterious(0.03)		13/34		hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	35	233208583	233208583	T	C	1	0	0	0	0	1	0	0	0	11680	1638	57	5		5	PCNX2	1	233208583	Missense_Mutation	SNP	T	C3L-02508_TP	79947553	233208583	15747839	2	9878											
TRIM54	0	.	GRCh38	chr2	27306262	27306262	+	Frame_Shift_Del	DEL	T	T	-																															cagggcggccggagccaggcTatgagagcatggagcaattc																								novel		C3L-02508_TP	C3L-02508_NB	T	T																c.1042delT	p.Tyr348MetfsTer9	p.Y348Mfs*9	ENST00000296098	8/10	405	376	29	269	269	0	sindel-varindel-pindel	TRIM54,frameshift_variant,p.Tyr348MetfsTer9,ENST00000296098,NM_032546.3;TRIM54,frameshift_variant,p.Tyr306MetfsTer9,ENST00000380075,NM_187841.2;MPV17,downstream_gene_variant,,ENST00000357186,;MPV17,downstream_gene_variant,,ENST00000380044,NM_002437.4;MPV17,downstream_gene_variant,,ENST00000233545,;MPV17,downstream_gene_variant,,ENST00000402310,;MPV17,downstream_gene_variant,,ENST00000405983,;MPV17,downstream_gene_variant,,ENST00000402722,;UCN,downstream_gene_variant,,ENST00000296099,NM_003353.2;MPV17,downstream_gene_variant,,ENST00000405076,;MPV17,downstream_gene_variant,,ENST00000430991,;MPV17,downstream_gene_variant,,ENST00000620797,;MPV17,downstream_gene_variant,,ENST00000616707,;MPV17,downstream_gene_variant,,ENST00000426513,;MPV17,downstream_gene_variant,,ENST00000621183,;TRIM54,downstream_gene_variant,,ENST00000485306,;MPV17,downstream_gene_variant,,ENST00000415514,;TRIM54,downstream_gene_variant,,ENST00000488321,;	-	ENST00000296098	Transcript	frameshift_variant	1312/2027	1042/1203	348/400	Y/X	Tat/at		1		1	TRIM54	HGNC	HGNC:16008	protein_coding	YES	CCDS1745.2	ENSP00000296098	Q9BYV2		UPI000020814F	NM_032546.3			8/10		PROSITE_profiles:PS51262,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF358																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	35	27306262	27306262	T	-	1	0	1	0	1	0	0	0	0	17021	1522	53	0		0	TRIM54	2	27306262	Frame_Shift_Del	DEL	T	C3L-02508_TP		27306262	214887267	3	9879											
OTOP1	0	.	GRCh38	chr4	4226478	4226478	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgcgcagccagccggcAcccgcgtgcgtgtccttgag	5	6	13	17	6	1	1	1	1	0	0	2	1	2	1	5	1	3	2	5	1	0	1			C3L-02508_TP	C3L-02508_NB	A	A																c.387T>C	p.=	p.G129G	ENST00000296358	1/6	51	45	6	37	37	0	varscan-mutect	OTOP1,synonymous_variant,p.=,ENST00000296358,NM_177998.1;	G	ENST00000296358	Transcript	synonymous_variant	412/1864	387/1839	129/612	G	ggT/ggC	COSM5554550	1		-1	OTOP1	HGNC	HGNC:19656	protein_coding	YES	CCDS3372.1	ENSP00000296358	Q7RTM1		UPI0000186945	NM_177998.1			1/6		hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF19											1						LOW	1	SNV	1		1	1										PASS		rs1466100755	.												G	2	3	35	4226478	4226478	A	G	1	0	0	0	0	0	0	0	1	11373	146	6	5		5	OTOP1	4	4226478	Silent	SNP	A	C3L-02508_TP		4226478	185988077	4	9880											
NUS1	0	.	GRCh38	chr6	117694169	117694169	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttggatgtagatacgttagCcagtttacttagtaagtttt	10	18	9	4	1	0	1	0	0	0	1	0	2	0	2	1	1	3	5	1	1	6	10	rs76776814		C3L-02508_TP	C3L-02508_NB	C	C																c.680C>G	p.Ala227Gly	p.A227G	ENST00000368494	3/5	167	156	11	137	135	2	varscan-mutect	NUS1,missense_variant,p.Ala227Gly,ENST00000368494,NM_138459.3;	G	ENST00000368494	Transcript	missense_variant	849/4676	680/882	227/293	A/G	gCc/gGc	rs76776814,COSM4006109	1		1	NUS1	HGNC	HGNC:21042	protein_coding	YES	CCDS5118.1	ENSP00000357480	Q96E22		UPI000006FECA	NM_138459.3	tolerated(0.07)		3/5		Gene3D:1uehA00,Pfam_domain:PF01255,hmmpanther:PTHR21528,hmmpanther:PTHR21528:SF0,Superfamily_domains:SSF64005											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs76776814	.												G	3	3	35	117694169	117694169	C	G	1	0	0	0	0	1	0	0	0	10843	739	26	4		4	NUS1	6	117694169	Missense_Mutation	SNP	C	C3L-02508_TP		117694169	53111810	5	9881											
STK31	0	.	GRCh38	chr7	23769755	23769755	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagctggagatagctctggTtgtgagtatcgatattcttt	9	15	12	5	1	2	3	0	1	2	2	3	5	2	3	0	2	2	4	0	2	3	6	novel		C3L-02508_TP	C3L-02508_NB	T	T																c.1712T>C	p.Val571Ala	p.V571A	ENST00000355870	13/24	104	95	9	80	80	0	strelka-varscan-mutect	STK31,missense_variant,p.Val548Ala,ENST00000354639,NM_032944.3,NM_001260504.1;STK31,missense_variant,p.Val571Ala,ENST00000355870,NM_031414.4;STK31,missense_variant,p.Val571Ala,ENST00000433467,NM_001260505.1;STK31,splice_region_variant,,ENST00000405627,;STK31,splice_region_variant,,ENST00000478321,;STK31,splice_region_variant,,ENST00000476399,;	C	ENST00000355870	Transcript	missense_variant,splice_region_variant	1831/3326	1712/3060	571/1019	V/A	gTt/gCt		1		1	STK31	HGNC	HGNC:11407	protein_coding	YES	CCDS5386.1	ENSP00000348132	Q9BXU1		UPI0000167B73	NM_031414.4	tolerated(0.5)		13/24		hmmpanther:PTHR12302,hmmpanther:PTHR12302:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	35	23769755	23769755	T	C	1	0	0	0	0	1	0	0	0	15673	1739	60	5		5	STK31	7	23769755	Missense_Mutation	SNP	T	C3L-02508_TP		23769755	135576218	6	9882											
VWC2	0	.	GRCh38	chr7	49775772	49775772	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggggatctgcaggtccggCcccgcggggacaccccgcag	5	3	16	17	5	1	0	0	0	1	0	2	2	2	2	6	6	1	2	6	6	0	0			C3L-02508_TP	C3L-02508_NB	C	C																c.337C>A	p.Pro113Thr	p.P113T	ENST00000340652	2/4	118	108	10	105	105	0	strelka-varscan-mutect	VWC2,missense_variant,p.Pro113Thr,ENST00000340652,NM_198570.3;	A	ENST00000340652	Transcript	missense_variant	893/11299	337/978	113/325	P/T	Ccc/Acc	COSM5561421	1		1	VWC2	HGNC	HGNC:30200	protein_coding	YES	CCDS5508.1	ENSP00000341819	Q2TAL6		UPI00002373A5	NM_198570.3	deleterious_low_confidence(0.04)		2/4													1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	35	49775772	49775772	C	A	1	0	0	0	0	1	0	0	0	17802	739	26	2		2	VWC2	7	49775772	Missense_Mutation	SNP	C	C3L-02508_TP	26006017	49775772	109570201	7	9883											
LRGUK	0	.	GRCh38	chr7	134258255	134258255	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggtttttcattttttcAgtgggaaggattccttggtt	5	21	10	5	0	2	0	2	0	0	0	3	2	3	2	1	4	0	2	1	4	1	9	novel		C3L-02508_TP	C3L-02508_NB	A	A																c.2199-2A>T		p.X733_splice	ENST00000285928		151	143	8	112	112	0	varscan-mutect	LRGUK,splice_acceptor_variant,,ENST00000285928,NM_144648.1;	T	ENST00000285928	Transcript	splice_acceptor_variant	-/3163	2199/2478	733/825				1		1	LRGUK	HGNC	HGNC:21964	protein_coding	YES	CCDS5830.1	ENSP00000285928	Q96M69		UPI0000072C76	NM_144648.1				18/19																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	35	134258255	134258255	A	T	1	0	0	0	0	0	0	1	0	8837	202	7	4		4	LRGUK	7	134258255	Splice_Site	SNP	A	C3L-02508_TP	84482483	134258255	25087718	8	9884											
ACVR1B	0	.	GRCh38	chr12	51985338	51985338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgccccgaatcagagggtgGggaccaaacggtaggagggc	10	5	17	9	2	1	1	1	0	0	1	1	4	1	3	3	6	2	1	3	6	3	2	novel		C3L-02508_TP	C3L-02508_NB	G	G																c.1249G>T	p.Gly417Trp	p.G417W	ENST00000541224	7/10	118	110	8	80	80	0	strelka-varscan-mutect	ACVR1B,missense_variant,p.Gly376Trp,ENST00000257963,NM_004302.4;ACVR1B,missense_variant,p.Gly324Trp,ENST00000542485,NM_020327.3;ACVR1B,missense_variant,p.Gly417Trp,ENST00000541224,NM_020328.3;ACVR1B,missense_variant,p.Gly376Trp,ENST00000426655,;ACVR1B,missense_variant,p.Gly376Trp,ENST00000415850,;RNU6-574P,upstream_gene_variant,,ENST00000384265,;ACVR1B,non_coding_transcript_exon_variant,,ENST00000563121,;	T	ENST00000541224	Transcript	missense_variant	1292/1791	1249/1641	417/546	G/W	Ggg/Tgg		1		1	ACVR1B	HGNC	HGNC:172	protein_coding	YES	CCDS44894.2	ENSP00000442656	P36896		UPI0001915052	NM_020328.3	deleterious(0)		7/10		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF22,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	35	51985338	51985338	G	T	1	0	0	0	0	1	0	0	0	265	1232	43	2		2	ACVR1B	12	51985338	Missense_Mutation	SNP	G	C3L-02508_TP		51985338	81289971	9	9885											
LRP1	0	.	GRCh38	chr12	57138500	57138500	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagtttgcctgcagagatCaaataacctgtatctcaaag	14	10	8	9	0	2	1	2	0	1	1	3	2	2	1	2	0	4	4	2	0	4	3	novel		C3L-02508_TP	C3L-02508_NB	C	C																c.109C>T	p.Gln37Ter	p.Q37*	ENST00000243077	2/89	281	265	16	173	173	0	strelka-mutect	LRP1,stop_gained,p.Gln37Ter,ENST00000243077,NM_002332.2;LRP1,stop_gained,p.Gln37Ter,ENST00000554174,;LRP1,stop_gained,p.Gln37Ter,ENST00000338962,;LRP1,stop_gained,p.Gln37Ter,ENST00000553277,;	T	ENST00000243077	Transcript	stop_gained	575/14897	109/13635	37/4544	Q/*	Caa/Taa		1		1	LRP1	HGNC	HGNC:6692	protein_coding	YES	CCDS8932.1	ENSP00000243077	Q07954		UPI00001B044F	NM_002332.2			2/89		Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_profiles:PS50068,SMART_domains:SM00192,Superfamily_domains:SSF57424																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	35	57138500	57138500	C	T	1	0	0	0	0	0	1	0	0	8846	827	29	3		3	LRP1	12	57138500	Nonsense_Mutation	SNP	C	C3L-02508_TP	5153162	57138500	76136809	10	9886											
MKL2	0	.	GRCh38	chr16	14234155	14234155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccaccagtttgcttcaGtgtccccaacagttcctgaa	8	14	6	13	0	1	1	1	1	0	0	4	1	4	1	5	0	2	3	5	0	2	5	novel		C3L-02508_TP	C3L-02508_NB	G	G																c.703G>T	p.Val235Leu	p.V235L	ENST00000571589	9/17	161	148	13	128	128	0	strelka-varscan-mutect	MKL2,missense_variant,p.Val235Leu,ENST00000571589,NM_001308142.1;MKL2,missense_variant,p.Val235Leu,ENST00000318282,;MKL2,missense_variant,p.Val235Leu,ENST00000574045,NM_014048.3;MKL2,missense_variant,p.Val224Leu,ENST00000572567,;MKL2,missense_variant,p.Val184Leu,ENST00000573051,;	T	ENST00000571589	Transcript	missense_variant	875/8799	703/3300	235/1099	V/L	Gtg/Ttg		1		1	MKL2	HGNC	HGNC:29819	protein_coding	YES	CCDS76823.1	ENSP00000459626	Q9ULH7		UPI00001FEE5A	NM_001308142.1	tolerated(0.44)		9/17		hmmpanther:PTHR22793:SF5,hmmpanther:PTHR22793																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	35	14234155	14234155	G	T	1	0	0	0	0	1	0	0	0	9569	1029	36	2		2	MKL2	16	14234155	Missense_Mutation	SNP	G	C3L-02508_TP		14234155	76104190	11	9887											
ATP8B3	0	.	GRCh38	chr19	1801972	1801972	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaccacaaccaccagcttgTtcatcaggaggtccagcttg	10	9	8	14	0	3	0	3	0	0	0	4	1	4	1	4	2	3	3	4	2	1	3	novel		C3L-02508_TP	C3L-02508_NB	T	T																c.1136A>G	p.Asn379Ser	p.N379S	ENST00000310127	12/29	239	227	12	143	143	0	strelka-varscan-mutect	ATP8B3,missense_variant,p.Asn379Ser,ENST00000310127,NM_138813.3;ATP8B3,missense_variant,p.Asn332Ser,ENST00000525591,NM_001178002.2;ATP8B3,missense_variant,p.Asn326Ser,ENST00000526092,;ATP8B3,downstream_gene_variant,,ENST00000533993,;ATP8B3,3_prime_UTR_variant,,ENST00000531925,;ATP8B3,non_coding_transcript_exon_variant,,ENST00000533107,;	C	ENST00000310127	Transcript	missense_variant	1375/5095	1136/3903	379/1300	N/S	aAc/aGc		1		-1	ATP8B3	HGNC	HGNC:13535	protein_coding	YES	CCDS45901.1	ENSP00000311336	O60423		UPI0000074660	NM_138813.3	deleterious(0.02)		12/29		hmmpanther:PTHR24092:SF78,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122,Superfamily_domains:0049473																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	35	1801972	1801972	T	C	1	0	0	0	0	1	0	0	0	1349	1725	60	5		5	ATP8B3	19	1801972	Missense_Mutation	SNP	T	C3L-02508_TP		1801972	56815644	12	9888											
UBIAD1	0	.	GRCh38	chr1	11285679	11285679	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggctctgggagacctcAtcatcctcatcacttttggc	7	12	9	13	1	5	1	4	0	1	1	6	2	6	1	2	3	0	1	2	3	0	2	novel		C3L-02549_TP	C3L-02549_NB	A	A																c.565A>T	p.Ile189Phe	p.I189F	ENST00000376810	2/2	336	280	56	304	304	0	strelka-varscan-mutect	UBIAD1,missense_variant,p.Ile189Phe,ENST00000376810,NM_013319.2;UBIAD1,missense_variant,p.Ile55Phe,ENST00000483738,;UBIAD1,intron_variant,,ENST00000376804,;UBIAD1,missense_variant,p.Ile70Phe,ENST00000486588,;	T	ENST00000376810	Transcript	missense_variant	891/3646	565/1017	189/338	I/F	Atc/Ttc		1		1	UBIAD1	HGNC	HGNC:30791	protein_coding	YES	CCDS129.1	ENSP00000366006	Q9Y5Z9		UPI0000073E35	NM_013319.2	deleterious(0.01)		2/2		hmmpanther:PTHR13929:SF0,hmmpanther:PTHR13929,PIRSF_domain:PIRSF005355,Pfam_domain:PF01040																	MODERATE	1	SNV	1			1										PASS		rs906156643	.												T	3	4	36	11285679	11285679	A	T	1	0	0	0	0	1	0	0	0	17409	217	8	4		4	UBIAD1	1	11285679	Missense_Mutation	SNP	A	C3L-02549_TP		11285679	237670743	1	9889											
LRRC7	0	.	GRCh38	chr1	69678457	69678457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaggttcgtgcagcacttCggaagaggcctgaagaggag	12	6	16	7	2	0	4	0	1	0	3	2	6	0	6	1	4	2	3	1	4	3	2	rs376248362		C3L-02549_TP	C3L-02549_NB	C	C																c.79C>T	p.Arg27Trp	p.R27W	ENST00000370958	2/8	192	168	24	197	197	0	strelka-varscan-mutect	LRRC7,missense_variant,p.Arg27Trp,ENST00000370958,;LRRC7,5_prime_UTR_variant,,ENST00000310961,;	T	ENST00000370958	Transcript	missense_variant	269/2375	79/654	27/217	R/W	Cgg/Tgg	rs376248362	1		1	LRRC7	HGNC	HGNC:18531	protein_coding			ENSP00000359997		B1AKT2	UPI000018DB0D		deleterious_low_confidence(0)		2/8																			MODERATE	1	SNV	1			1										PASS		rs376248362	.												T	3	4	36	69678457	69678457	C	T	1	0	0	0	0	1	0	0	0	8916	875	31	1		1	LRRC7	1	69678457	Missense_Mutation	SNP	C	C3L-02549_TP	58392778	69678457	179277965	2	9890											
SH3GLB1	0	.	GRCh38	chr1	86719529	86719529	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccaggatagaagaatttgtTtatgagaaactggatagaaa	17	10	11	3	0	0	4	0	1	0	4	0	7	0	6	1	2	1	1	1	2	7	5	rs758611284		C3L-02549_TP	C3L-02549_NB	T	T																c.237T>G	p.=	p.V79V	ENST00000616170	3/10	163	133	30	126	126	0	strelka-varscan-mutect	SH3GLB1,synonymous_variant,p.=,ENST00000616170,NM_001206651.1;SH3GLB1,synonymous_variant,p.=,ENST00000370558,NM_016009.4;SH3GLB1,synonymous_variant,p.=,ENST00000482504,NM_001206652.1;SH3GLB1,5_prime_UTR_variant,,ENST00000535010,NM_001206653.1;	G	ENST00000616170	Transcript	synonymous_variant	567/6456	237/1185	79/394	V	gtT/gtG	rs758611284	1		1	SH3GLB1	HGNC	HGNC:10833	protein_coding	YES	CCDS72819.1	ENSP00000479919		A0A087WW40	UPI0000E05641	NM_001206651.1			3/10		PROSITE_profiles:PS51021,hmmpanther:PTHR10663:SF161,hmmpanther:PTHR10663,Pfam_domain:PF03114,Gene3D:1.20.1270.60,SMART_domains:SM00721,Superfamily_domains:SSF103657																	LOW	1	SNV	1			1										PASS		rs758611284	.												G	2	3	36	86719529	86719529	T	G	1	0	0	0	0	0	0	0	1	14512	1828	64	5		5	SH3GLB1	1	86719529	Silent	SNP	T	C3L-02549_TP	17041072	86719529	162236893	3	9891											
NBPF10	0	.	GRCh38	chr1	146068153	146068153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagacttcaggctctttctCatccagcagctccctgctga	8	11	7	15	0	3	2	2	1	2	1	6	2	5	2	2	1	3	4	2	1	1	2	novel		C3L-02549_TP	C3L-02549_NB	C	C																c.10885G>A	p.Glu3629Lys	p.E3629K	ENST00000583866	88/90	55	46	9	36	36	0	varscan-mutect	NBPF10,missense_variant,p.Glu3629Lys,ENST00000583866,NM_001039703.5,NM_001302371.1;NBPF10,missense_variant,p.Glu1073Lys,ENST00000617010,;NBPF10,intron_variant,,ENST00000610925,;NBPF10,intron_variant,,ENST00000622244,;NBPF10,intron_variant,,ENST00000613557,;NBPF10,intron_variant,,ENST00000616399,;NBPF10,intron_variant,,ENST00000613224,;	T	ENST00000583866	Transcript	missense_variant	10920/13042	10885/11388	3629/3795	E/K	Gag/Aag		1		-1	NBPF10	HGNC	HGNC:31992	protein_coding	YES	CCDS76206.1	ENSP00000463957		A0A075B762	UPI00051EF319	NM_001039703.5,NM_001302371.1	tolerated(0.65)		88/90		Pfam_domain:PF06758,PROSITE_profiles:PS51316,SMART_domains:SM01148																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	36	146068153	146068153	C	T	1	0	0	0	0	1	0	0	0	10204	835	29	3		3	NBPF10	1	146068153	Missense_Mutation	SNP	C	C3L-02549_TP	59348624	146068153	102888269	4	9892											
NOL10	0	.	GRCh38	chr2	10607185	10607185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacaattttttttttacCtaaattttcaaggtctttct	10	21	2	8	0	4	0	2	0	2	0	4	0	4	0	1	1	1	0	1	1	5	9	novel		C3L-02549_TP	C3L-02549_NB	C	C																c.1153G>A	p.Gly385Arg	p.G385R	ENST00000381685	14/21	61	54	7	49	49	0	varscan-mutect	NOL10,missense_variant,p.Gly359Arg,ENST00000538384,NM_001261392.1;NOL10,missense_variant,p.Gly335Arg,ENST00000345985,NM_001261394.1;NOL10,missense_variant,p.Gly385Arg,ENST00000381685,NM_024894.3;AC092687.5,downstream_gene_variant,,ENST00000414538,;	T	ENST00000381685	Transcript	missense_variant,splice_region_variant	1259/2589	1153/2067	385/688	G/R	Ggg/Agg		1		-1	NOL10	HGNC	HGNC:25862	protein_coding	YES	CCDS1673.2	ENSP00000371101	Q9BSC4		UPI000006F6E2	NM_024894.3	deleterious(0.01)		14/21		hmmpanther:PTHR14927,hmmpanther:PTHR14927:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	36	10607185	10607185	C	T	1	0	0	0	0	1	0	0	0	10563	695	24	3		3	NOL10	2	10607185	Missense_Mutation	SNP	C	C3L-02549_TP		10607185	231586344	5	9893											
CAPN13	0	.	GRCh38	chr2	30754326	30754326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtttcttatgtagctggCttttccgcggatcacaggtt	5	15	10	11	3	2	0	1	0	1	0	3	1	3	1	2	3	1	5	2	3	2	6	novel		C3L-02549_TP	C3L-02549_NB	C	C																c.905G>T	p.Ser302Ile	p.S302I	ENST00000295055	9/23	106	87	19	97	97	0	strelka-varscan-mutect	CAPN13,missense_variant,p.Ser302Ile,ENST00000295055,NM_144575.2;CAPN13,downstream_gene_variant,,ENST00000465960,;CAPN13,missense_variant,p.Ser302Ile,ENST00000458085,;CAPN13,upstream_gene_variant,,ENST00000465450,;	A	ENST00000295055	Transcript	missense_variant	1082/2683	905/2010	302/669	S/I	aGc/aTc		1		-1	CAPN13	HGNC	HGNC:16663	protein_coding	YES	CCDS46252.1	ENSP00000295055	Q6MZZ7		UPI00000463E5	NM_144575.2	tolerated(0.09)		9/23		Pfam_domain:PF00648,PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF282,SMART_domains:SM00230,Superfamily_domains:SSF54001																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	36	30754326	30754326	C	A	1	0	0	0	0	1	0	0	0	2318	797	28	2		2	CAPN13	2	30754326	Missense_Mutation	SNP	C	C3L-02549_TP	20147141	30754326	211439203	6	9894											
NBEAL1	0	.	GRCh38	chr2	203136050	203136050	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggaattctggcatagtaAcccttcacatttgagtttag	12	13	9	7	0	2	2	1	1	1	1	2	3	2	3	1	2	1	3	1	2	4	7			C3L-02549_TP	C3L-02549_NB	A	A																c.4100A>G	p.Asn1367Ser	p.N1367S	ENST00000449802	27/55	130	108	22	134	134	0	strelka-varscan-mutect	NBEAL1,missense_variant,p.Asn1367Ser,ENST00000449802,NM_001114132.1;	G	ENST00000449802	Transcript	missense_variant	4433/10938	4100/8085	1367/2694	N/S	aAc/aGc	COSM1216712,COSM1216713	1		1	NBEAL1	HGNC	HGNC:20681	protein_coding	YES	CCDS46495.1	ENSP00000399903	Q6ZS30		UPI000194EC27	NM_001114132.1	tolerated(1)		27/55		hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												G	3	3	36	203136050	203136050	A	G	1	0	0	0	0	1	0	0	0	10199	43	2	5		5	NBEAL1	2	203136050	Missense_Mutation	SNP	A	C3L-02549_TP	172381724	203136050	39057479	7	9895											
KIAA0232	0	.	GRCh38	chr4	6861265	6861265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttctggctccagtgaaGcaggctcaagttccagtggg	7	10	14	10	0	3	1	1	1	2	0	5	1	5	1	2	4	1	4	2	4	2	2			C3L-02549_TP	C3L-02549_NB	G	G																c.883G>T	p.Ala295Ser	p.A295S	ENST00000307659	7/10	268	226	42	229	228	1	strelka-varscan-mutect	KIAA0232,missense_variant,p.Ala295Ser,ENST00000307659,NM_014743.2;KIAA0232,missense_variant,p.Ala295Ser,ENST00000425103,NM_001100590.1;KIAA0232,downstream_gene_variant,,ENST00000503069,;	T	ENST00000307659	Transcript	missense_variant	1338/7841	883/4188	295/1395	A/S	Gca/Tca	COSM71289	1		1	KIAA0232	HGNC	HGNC:28992	protein_coding	YES	CCDS43209.1	ENSP00000303928	Q92628		UPI000013EC3F	NM_014743.2	tolerated(0.13)		7/10		Pfam_domain:PF15376,hmmpanther:PTHR17611,hmmpanther:PTHR17611:SF3,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	36	6861265	6861265	G	T	1	0	0	0	0	1	0	0	0	8079	971	34	2		2	KIAA0232	4	6861265	Missense_Mutation	SNP	G	C3L-02549_TP		6861265	183353290	8	9896											
PPIP5K2	0	.	GRCh38	chr5	103194899	103194899	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgtttattttttttcaGcctctacagctttacgttcc	5	22	5	9	1	2	0	1	0	1	0	3	0	3	0	2	0	4	4	2	0	3	11	novel		C3L-02549_TP	C3L-02549_NB	G	G																c.3599-1G>T		p.X1200_splice	ENST00000627916		100	94	6	64	64	0	varscan-mutect	PPIP5K2,splice_acceptor_variant,,ENST00000321521,;PPIP5K2,splice_acceptor_variant,,ENST00000627916,NM_001281471.1;PPIP5K2,splice_acceptor_variant,,ENST00000414217,NM_015216.3;PPIP5K2,splice_acceptor_variant,,ENST00000358359,NM_001276277.1;PPIP5K2,splice_acceptor_variant,,ENST00000613674,;PPIP5K2,splice_acceptor_variant,,ENST00000509597,;PPIP5K2,splice_acceptor_variant,,ENST00000613907,;PPIP5K2,splice_acceptor_variant,,ENST00000511022,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000504083,;PPIP5K2,downstream_gene_variant,,ENST00000510672,;	T	ENST00000627916	Transcript	splice_acceptor_variant	-/6010	3599/3837	1200/1278				1		1	PPIP5K2	HGNC	HGNC:29035	protein_coding	YES	CCDS75283.1	ENSP00000486357		A0A087WZV0	UPI0002840889	NM_001281471.1				30/31																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	36	103194899	103194899	G	T	1	0	0	0	0	0	0	1	0	12443	985	34	2		2	PPIP5K2	5	103194899	Splice_Site	SNP	G	C3L-02549_TP		103194899	78343360	9	9897											
AP3S1	0	.	GRCh38	chr5	115870016	115870016	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaatttttttgtcatttaGattaattggaggatctgaca	12	18	7	4	0	2	2	1	1	1	1	2	4	2	4	0	2	1	0	0	2	4	8	novel		C3L-02549_TP	C3L-02549_NB	G	G																c.162-1G>T		p.X54_splice	ENST00000316788		124	116	8	60	60	0	varscan-mutect	AP3S1,splice_acceptor_variant,,ENST00000316788,NM_001284.2;AP3S1,splice_acceptor_variant,,ENST00000514118,;AP3S1,splice_acceptor_variant,,ENST00000395548,;AP3S1,splice_acceptor_variant,,ENST00000506430,;AP3S1,splice_acceptor_variant,,ENST00000509055,;AP3S1,splice_acceptor_variant,,ENST00000507436,;AP3S1,intron_variant,,ENST00000515066,;	T	ENST00000316788	Transcript	splice_acceptor_variant	-/1730	162/582	54/193				1		1	AP3S1	HGNC	HGNC:2013	protein_coding	YES	CCDS4123.1	ENSP00000325369	Q92572		UPI000002236E	NM_001284.2				2/5																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	36	115870016	115870016	G	T	1	0	0	0	0	0	0	1	0	865	956	33	2		2	AP3S1	5	115870016	Splice_Site	SNP	G	C3L-02549_TP	12675117	115870016	65668243	10	9898											
SLC22A5	0	.	GRCh38	chr5	132388954	132388954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccaagaagcagcagtccCacaacattctggatctgctt	11	10	8	12	0	2	1	0	0	2	1	4	2	4	2	2	1	4	4	2	1	3	3	novel		C3L-02549_TP	C3L-02549_NB	C	C																c.1057C>A	p.His353Asn	p.H353N	ENST00000435065	7/11	316	275	41	315	315	0	strelka-varscan-mutect	SLC22A5,missense_variant,p.His329Asn,ENST00000245407,NM_003060.3;SLC22A5,missense_variant,p.His353Asn,ENST00000435065,NM_001308122.1;SLC22A5,downstream_gene_variant,,ENST00000415928,;SLC22A5,non_coding_transcript_exon_variant,,ENST00000479605,;SLC22A5,missense_variant,p.His16Asn,ENST00000447841,;SLC22A5,missense_variant,p.His112Asn,ENST00000448810,;SLC22A5,3_prime_UTR_variant,,ENST00000437841,;SLC22A5,non_coding_transcript_exon_variant,,ENST00000461013,;SLC22A5,upstream_gene_variant,,ENST00000475308,;	A	ENST00000435065	Transcript	missense_variant	1057/1746	1057/1746	353/581	H/N	Cac/Aac		1		1	SLC22A5	HGNC	HGNC:10969	protein_coding	YES	CCDS78058.1	ENSP00000402760	O76082		UPI0000EFD9B4	NM_001308122.1	tolerated(0.27)		7/11		PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF283,TIGRFAM_domain:TIGR00898,Pfam_domain:PF00083,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	36	132388954	132388954	C	A	1	0	0	0	0	1	0	0	0	14723	594	21	2		2	SLC22A5	5	132388954	Missense_Mutation	SNP	C	C3L-02549_TP	16518938	132388954	49149305	11	9899											
C6orf203	0	.	GRCh38	chr6	107039868	107039874	+	Frame_Shift_Del	DEL	TACTTCC	TACTTCC	-																															ccttcatcatacaaactctgTacttcctggaatcgatactt																								novel		C3L-02549_TP	C3L-02549_NB	TACTTCC	TACTTCC																c.124_130delACTTCCT	p.Thr42GlyfsTer27	p.T42Gfs*27	ENST00000625458	3/5	289	258	31	264	264	0	sindel-varindel-pindel	C6orf203,frameshift_variant,p.Thr37GlyfsTer27,ENST00000405204,NM_001142468.2;C6orf203,frameshift_variant,p.Thr42GlyfsTer27,ENST00000625458,NM_001142470.2;C6orf203,frameshift_variant,p.Thr37GlyfsTer27,ENST00000311381,NM_016487.4;C6orf203,upstream_gene_variant,,ENST00000489790,;	-	ENST00000625458	Transcript	frameshift_variant	432-438/1146	123-129/738	41-43/245	CTS/X	tgTACTTCC/tg		1		1	C6orf203	HGNC	HGNC:17971	protein_coding	YES	CCDS78167.1	ENSP00000485698		A0A0D9SEI0	UPI0000D4EA45	NM_001142470.2			3/5		hmmpanther:PTHR13633,hmmpanther:PTHR13633:SF3																	HIGH	1	deletion	3	1		1										PASS		.	.												-	7	5	36	107039868	107039868	TACTTCC	-	1	0	1	0	1	0	0	0	0	2123	1644	57	0		0	C6orf203	6	107039868	Frame_Shift_Del	DEL	TACTTCC	C3L-02549_TP		107039868	63766111	12	9900											
POM121	0	.	GRCh38	chr7	72942704	72942704	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcagccagtccctgcAcactgccgtgccaacggcca	8	6	8	19	2	1	0	1	0	0	0	2	0	2	0	6	1	5	1	6	1	1	1	rs437678		C3L-02549_TP	C3L-02549_NB	A	A																c.1916A>C	p.His639Pro	p.H639P	ENST00000395270	14/16	73	68	5	65	65	0	varscan-mutect	POM121,missense_variant,p.His639Pro,ENST00000395270,NM_001257190.2;POM121,missense_variant,p.His639Pro,ENST00000627934,NM_172020.4;POM121,missense_variant,p.His639Pro,ENST00000358357,;POM121,missense_variant,p.His904Pro,ENST00000434423,;POM121,missense_variant,p.His639Pro,ENST00000446813,;NSUN5P2,downstream_gene_variant,,ENST00000602348,;	C	ENST00000395270	Transcript	missense_variant	2957/7011	1916/3000	639/999	H/P	cAc/cCc	rs437678	1		1	POM121	HGNC	HGNC:19702	protein_coding	YES	CCDS59059.1	ENSP00000378687	Q96HA1		UPI000013DA6B	NM_001257190.2	tolerated(1)		14/16		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5																	MODERATE	1	SNV	1			1										PASS		rs437678	.												C	3	2	36	72942704	72942704	A	C	1	0	0	0	0	1	0	0	0	12350	159	6	5		5	POM121	7	72942704	Missense_Mutation	SNP	A	C3L-02549_TP		72942704	86403269	13	9901											
BRAF	0	.	GRCh38	chr7	140754204	140754204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactattactcttgaggtctCtgtggatgattgacttggcg	7	16	11	7	1	2	3	0	3	2	0	3	4	2	4	0	3	2	0	0	3	3	6	novel		C3L-02549_TP	C3L-02549_NB	C	C																c.1724G>A	p.Arg575Lys	p.R575K	ENST00000288602	14/18	386	364	22	309	309	0	strelka-varscan-mutect	BRAF,missense_variant,p.Arg183Lys,ENST00000496384,;BRAF,missense_variant,p.Arg575Lys,ENST00000288602,NM_004333.4;BRAF,missense_variant,p.Arg3Lys,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000497784,;	T	ENST00000288602	Transcript	missense_variant	1785/2480	1724/2301	575/766	R/K	aGa/aAa		1		-1	BRAF	HGNC	HGNC:1097	protein_coding	YES	CCDS5863.1	ENSP00000288602	P15056		UPI000013DF26	NM_004333.4	deleterious(0.01)		14/18		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_patterns:PS00108,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF43,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	36	140754204	140754204	C	T	1	0	0	0	0	1	0	0	0	1665	913	32	3		3	BRAF	7	140754204	Missense_Mutation	SNP	C	C3L-02549_TP	67811500	140754204	18591769	14	9902											
CPSF1	0	.	GRCh38	chr8	144400434	144400434	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgacggggtgcaccttcTgcgtgatgttcagtgagatg	8	11	15	7	2	2	4	1	3	1	2	2	5	2	4	1	2	2	2	1	2	0	2	novel		C3L-02549_TP	C3L-02549_NB	T	T																c.746A>C	p.Gln249Pro	p.Q249P	ENST00000616140	8/38	247	231	16	229	229	0	strelka-varscan-mutect	CPSF1,missense_variant,p.Gln249Pro,ENST00000616140,NM_013291.2;CPSF1,missense_variant,p.Gln249Pro,ENST00000620219,;CPSF1,upstream_gene_variant,,ENST00000579254,;CPSF1,upstream_gene_variant,,ENST00000618543,;CPSF1,non_coding_transcript_exon_variant,,ENST00000622776,;CPSF1,non_coding_transcript_exon_variant,,ENST00000532560,;CPSF1,intron_variant,,ENST00000531042,;CPSF1,upstream_gene_variant,,ENST00000527827,;CPSF1,upstream_gene_variant,,ENST00000529288,;CPSF1,upstream_gene_variant,,ENST00000533492,;CPSF1,upstream_gene_variant,,ENST00000527916,;	G	ENST00000616140	Transcript	missense_variant	821/4494	746/4332	249/1443	Q/P	cAg/cCg		1		-1	CPSF1	HGNC	HGNC:2324	protein_coding	YES	CCDS34966.1	ENSP00000484669	Q10570		UPI00001282EE	NM_013291.2	deleterious(0.02)		8/38		Pfam_domain:PF10433,hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	36	144400434	144400434	T	G	1	0	0	0	0	1	0	0	0	3620	1580	55	5		5	CPSF1	8	144400434	Missense_Mutation	SNP	T	C3L-02549_TP		144400434	738202	15	9903											
OR8K5	0	.	GRCh38	chr11	56159993	56159993	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggatgaaaaattcactgaTaatgaacataaggaagaatg	20	8	9	4	0	1	4	1	3	0	1	1	6	1	6	0	2	1	0	0	2	7	3	novel		C3L-02549_TP	C3L-02549_NB	T	T																c.325A>T	p.Ile109Phe	p.I109F	ENST00000313447	1/1	219	190	29	211	211	0	strelka-varscan-mutect	OR8K5,missense_variant,p.Ile109Phe,ENST00000313447,NM_001004058.2;	A	ENST00000313447	Transcript	missense_variant	325/924	325/924	109/307	I/F	Atc/Ttc		1		-1	OR8K5	HGNC	HGNC:15315	protein_coding	YES	CCDS31521.1	ENSP00000323853	Q8NH50		UPI000004B231	NM_001004058.2	deleterious_low_confidence(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF60,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	36	56159993	56159993	T	A	1	0	0	0	0	1	0	0	0	11312	1406	49	4		4	OR8K5	11	56159993	Missense_Mutation	SNP	T	C3L-02549_TP		56159993	78926629	16	9904											
HSPA8	0	.	GRCh38	chr11	123060188	123060188	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagtacattgagaccagcAatagttccagcatctttggt	12	12	8	9	0	1	1	0	1	1	1	2	2	2	1	2	1	3	4	2	1	4	6	novel		C3L-02549_TP	C3L-02549_NB	A	A																c.492T>G	p.Ile164Met	p.I164M	ENST00000534624	4/9	412	357	55	346	345	1	strelka-varscan-mutect	HSPA8,missense_variant,p.Ile164Met,ENST00000534624,NM_006597.5;HSPA8,missense_variant,p.Ile164Met,ENST00000532636,;HSPA8,missense_variant,p.Ile164Met,ENST00000227378,;HSPA8,missense_variant,p.Ile164Met,ENST00000453788,NM_153201.3;HSPA8,missense_variant,p.Ile145Met,ENST00000526110,;HSPA8,missense_variant,p.Ile104Met,ENST00000528292,;HSPA8,missense_variant,p.Ile164Met,ENST00000525624,;HSPA8,missense_variant,p.Ile164Met,ENST00000532182,;HSPA8,missense_variant,p.Ile164Met,ENST00000534567,;HSPA8,missense_variant,p.Ile123Met,ENST00000525463,;HSPA8,missense_variant,p.Ile164Met,ENST00000527387,;HSPA8,5_prime_UTR_variant,,ENST00000534319,;HSPA8,intron_variant,,ENST00000533540,;HSPA8,upstream_gene_variant,,ENST00000524552,;HSPA8,upstream_gene_variant,,ENST00000526686,;HSPA8,downstream_gene_variant,,ENST00000530391,;HSPA8,downstream_gene_variant,,ENST00000524590,;SNORD14C,upstream_gene_variant,,ENST00000365382,;SNORD14D,upstream_gene_variant,,ENST00000384390,;SNORD14E,upstream_gene_variant,,ENST00000364009,;HSPA8,non_coding_transcript_exon_variant,,ENST00000526862,;HSPA8,intron_variant,,ENST00000533238,;HSPA8,non_coding_transcript_exon_variant,,ENST00000532091,;HSPA8,non_coding_transcript_exon_variant,,ENST00000527983,;HSPA8,non_coding_transcript_exon_variant,,ENST00000532780,;HSPA8,non_coding_transcript_exon_variant,,ENST00000532167,;HSPA8,downstream_gene_variant,,ENST00000531063,;	C	ENST00000534624	Transcript	missense_variant	769/2463	492/1941	164/646	I/M	atT/atG		1		-1	HSPA8	HGNC	HGNC:5241	protein_coding	YES	CCDS8440.1	ENSP00000432083	P11142	V9HW22	UPI0000000801	NM_006597.5	deleterious_low_confidence(0)		4/9		Gene3D:3.30.420.40,Pfam_domain:PF00012,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF150,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		rs1436365119	.												C	3	2	36	123060188	123060188	A	C	1	0	0	0	0	1	0	0	0	7312	126	5	5		5	HSPA8	11	123060188	Missense_Mutation	SNP	A	C3L-02549_TP	66900195	123060188	12026434	17	9905											
ADAMTS8	0	.	GRCh38	chr11	130405772	130405772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtggttgctctctctttgCtgctctgcatgctaaagtcc	4	16	10	11	0	3	0	0	0	3	0	5	0	4	0	1	2	5	6	1	2	2	3	novel		C3L-02549_TP	C3L-02549_NB	C	C																c.2456G>A	p.Ser819Asn	p.S819N	ENST00000257359	9/9	440	370	70	391	391	0	strelka-varscan-mutect	ADAMTS8,missense_variant,p.Ser819Asn,ENST00000257359,NM_007037.4;RP11-121M22.1,downstream_gene_variant,,ENST00000602376,;RP11-121M22.1,downstream_gene_variant,,ENST00000616197,;ADAMTS8,non_coding_transcript_exon_variant,,ENST00000531752,;	T	ENST00000257359	Transcript	missense_variant	3163/4010	2456/2670	819/889	S/N	aGc/aAc		1		-1	ADAMTS8	HGNC	HGNC:224	protein_coding	YES	CCDS41732.1	ENSP00000257359	Q9UP79		UPI000013CF5D	NM_007037.4	tolerated(0.41)		9/9		hmmpanther:PTHR13723:SF41,hmmpanther:PTHR13723																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	36	130405772	130405772	C	T	1	0	0	0	0	1	0	0	0	316	797	28	3		3	ADAMTS8	11	130405772	Missense_Mutation	SNP	C	C3L-02549_TP	7345584	130405772	4680850	18	9906											
FGF23	0	.	GRCh38	chr12	4370383	4370383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcagccttccgggcccGttcccccagcgtgcgtgttc	2	8	14	17	5	0	0	0	0	0	0	3	0	2	0	5	3	3	3	5	3	0	3	rs7955866		C3L-02549_TP	C3L-02549_NB	G	G																c.716C>T	p.Thr239Met	p.T239M	ENST00000237837	3/3	136	127	9	80	80	0	strelka-varscan-mutect	FGF23,missense_variant,p.Thr239Met,ENST00000237837,NM_020638.2;	A	ENST00000237837	Transcript	missense_variant	862/3018	716/756	239/251	T/M	aCg/aTg	rs7955866,CM123510	1		-1	FGF23	HGNC	HGNC:3680	protein_coding	YES	CCDS8526.1	ENSP00000237837	Q9GZV9		UPI000003ED58	NM_020638.2	tolerated_low_confidence(0.3)		3/3		hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF69												2.15659452039494e+47					MODERATE	1	SNV	1		0,1	1										PASS		rs7955866	.												A	3	1	36	4370383	4370383	G	A	1	0	0	0	0	1	0	0	0	5716	1145	40	1		1	FGF23	12	4370383	Missense_Mutation	SNP	G	C3L-02549_TP		4370383	128904926	19	9907											
KLRC1	0	.	GRCh38	chr12	10449382	10449382	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggacaatggccacaaTgacgtgctaaataaagatat	16	8	8	9	1	1	2	1	1	0	1	1	3	1	3	2	2	1	1	2	2	7	3	rs760718931		C3L-02549_TP	C3L-02549_NB	T	T																c.344A>C	p.His115Pro	p.H115P	ENST00000544822	6/8	168	157	11	152	150	2	varscan-mutect	KLRC1,missense_variant,p.His115Pro,ENST00000544822,NM_213658.2;KLRC1,missense_variant,p.His97Pro,ENST00000408006,NM_213657.2;KLRC1,missense_variant,p.His115Pro,ENST00000359151,NM_002259.4;KLRC1,missense_variant,p.His97Pro,ENST00000347831,NM_007328.3;KLRC1,missense_variant,p.His115Pro,ENST00000536188,NM_001304448.1;KLRC1,upstream_gene_variant,,ENST00000543893,;KLRC1,downstream_gene_variant,,ENST00000537699,;	G	ENST00000544822	Transcript	missense_variant	732/1600	344/702	115/233	H/P	cAt/cCt	rs760718931	1		-1	KLRC1	HGNC	HGNC:6374	protein_coding	YES	CCDS8625.1	ENSP00000438038	P26715		UPI000013CF3D	NM_213658.2	tolerated(0.14)		6/8		hmmpanther:PTHR22800:SF167,hmmpanther:PTHR22800,Gene3D:3.10.100.10,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		rs760718931	.												G	3	3	36	10449382	10449382	T	G	1	0	0	0	0	1	0	0	0	8284	1464	51	5		5	KLRC1	12	10449382	Missense_Mutation	SNP	T	C3L-02549_TP	6078999	10449382	122825927	20	9908											
KRAS	0	.	GRCh38	chr12	25245350	25245350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		C3L-02549_TP	C3L-02549_NB	C	C																c.35G>A	p.Gly12Asp	p.G12D	ENST00000256078	2/6	385	309	76	326	326	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Asp,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Asp,ENST00000556131,;KRAS,missense_variant,p.Gly12Asp,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Asp,ENST00000557334,;	T	ENST00000256078	Transcript	missense_variant	99/1119	35/570	12/189	G/D	gGt/gAt	rs121913529,CM087372,COSM1135366,COSM1140133,COSM1140134,COSM12657,COSM49168,COSM520,COSM521,COSM522	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,0,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1,1,1	1										PASS		rs121913529	.												T	3	4	36	25245350	25245350	C	T	1	0	0	0	0	1	0	0	0	8318	507	18	3		3	KRAS	12	25245350	Missense_Mutation	SNP	C	C3L-02549_TP	14795968	25245350	108029959	21	9909											
SETD1B	0	.	GRCh38	chr12	121809766	121809766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctatggacagggcacccCgctcacaccgcgcctgggca	7	5	11	18	3	1	0	1	0	0	0	2	1	2	1	5	3	0	3	5	3	1	1	novel		C3L-02549_TP	C3L-02549_NB	C	C																c.821C>G	p.Pro274Arg	p.P274R	ENST00000542440	6/18	170	142	28	179	179	0	strelka-varscan-mutect	SETD1B,missense_variant,p.Pro274Arg,ENST00000542440,NM_015048.1;SETD1B,missense_variant,p.Pro274Arg,ENST00000604567,;SETD1B,missense_variant,p.Pro274Arg,ENST00000619791,;SETD1B,missense_variant,p.Pro274Arg,ENST00000267197,;	G	ENST00000542440	Transcript	missense_variant	889/8185	821/5772	274/1923	P/R	cCg/cGg		1		1	SETD1B	HGNC	HGNC:29187	protein_coding	YES	CCDS53838.1	ENSP00000442924	Q9UPS6		UPI00006C12ED	NM_015048.1	deleterious(0)		6/18																			MODERATE	1	SNV	5			1										PASS		rs1310022642	.												G	3	3	36	121809766	121809766	C	G	1	0	0	0	0	1	0	0	0	14408	652	23	4		4	SETD1B	12	121809766	Missense_Mutation	SNP	C	C3L-02549_TP	96564416	121809766	11465543	22	9910											
ZFYVE19	0	.	GRCh38	chr15	40807721	40807721	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcggggcagggcagggAagggaagggcggagctgggg	7	2	27	5	2	0	0	0	0	0	0	0	3	0	3	0	11	1	3	0	11	2	0	rs201565395		C3L-02549_TP	C3L-02549_NB	A	A																c.132A>C	p.=	p.G44G	ENST00000355341	1/11	81	74	7	70	69	1	varscan-mutect	ZFYVE19,synonymous_variant,p.=,ENST00000355341,NM_001077268.1;ZFYVE19,synonymous_variant,p.=,ENST00000299173,NM_001258420.1;ZFYVE19,synonymous_variant,p.=,ENST00000566407,;ZFYVE19,intron_variant,,ENST00000564258,NM_001258421.1;ZFYVE19,intron_variant,,ENST00000336455,NM_032850.4;ZFYVE19,intron_variant,,ENST00000570108,;DNAJC17,upstream_gene_variant,,ENST00000220496,NM_018163.2;ZFYVE19,upstream_gene_variant,,ENST00000561617,;ZFYVE19,upstream_gene_variant,,ENST00000566767,;DNAJC17,upstream_gene_variant,,ENST00000627802,;ZFYVE19,non_coding_transcript_exon_variant,,ENST00000563530,;ZFYVE19,synonymous_variant,p.=,ENST00000568062,;ZFYVE19,upstream_gene_variant,,ENST00000560078,;ZFYVE19,upstream_gene_variant,,ENST00000561768,;DNAJC17,upstream_gene_variant,,ENST00000559238,;ZFYVE19,upstream_gene_variant,,ENST00000569057,;DNAJC17,upstream_gene_variant,,ENST00000560301,;DNAJC17,upstream_gene_variant,,ENST00000560645,;DNAJC17,upstream_gene_variant,,ENST00000561018,;DNAJC17,upstream_gene_variant,,ENST00000559310,;DNAJC17,upstream_gene_variant,,ENST00000560065,;ZFYVE19,upstream_gene_variant,,ENST00000567756,;ZFYVE19,upstream_gene_variant,,ENST00000570162,;	C	ENST00000355341	Transcript	synonymous_variant	633/2775	132/1416	44/471	G	ggA/ggC	rs201565395	1		1	ZFYVE19	HGNC	HGNC:20758	protein_coding	YES	CCDS42025.1	ENSP00000347498	Q96K21		UPI0000E5924A	NM_001077268.1			1/11																			LOW	1	SNV	1			1										PASS		rs201565395	.												C	2	2	36	40807721	40807721	A	C	1	0	0	0	0	0	0	0	1	18243	233	9	5		5	ZFYVE19	15	40807721	Silent	SNP	A	C3L-02549_TP		40807721	61183468	23	9911											
ITGA11	0	.	GRCh38	chr15	68321424	68321424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagccaactcacatggccGtgggcaggtcactccgggca	9	5	14	13	2	2	0	2	0	0	0	3	1	3	1	3	5	2	2	3	5	1	0	rs145852498		C3L-02549_TP	C3L-02549_NB	G	G																c.2402C>A	p.Thr801Lys	p.T801K	ENST00000315757	19/30	65	46	19	50	50	0	strelka-varscan-mutect	ITGA11,missense_variant,p.Thr801Lys,ENST00000423218,;ITGA11,missense_variant,p.Thr801Lys,ENST00000315757,NM_001004439.1;	T	ENST00000315757	Transcript	missense_variant	2498/3955	2402/3567	801/1188	T/K	aCg/aAg	rs145852498	1		-1	ITGA11	HGNC	HGNC:6136	protein_coding	YES	CCDS45291.1	ENSP00000327290	Q9UKX5		UPI00001FE74D	NM_001004439.1	tolerated(0.26)		19/30		Gene3D:2.60.40.1510,Pfam_domain:PF08441																	MODERATE	1	SNV	1			1										PASS		rs145852498	.												T	3	4	36	68321424	68321424	G	T	1	0	0	0	0	1	0	0	0	7781	1145	40	1		1	ITGA11	15	68321424	Missense_Mutation	SNP	G	C3L-02549_TP	27513703	68321424	33669765	24	9912											
C16orf46	0	.	GRCh38	chr16	81061419	81061419	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggggtctggagggcaCgccaggtttttctcagacag	6	11	15	9	1	2	1	1	0	2	1	3	2	2	2	1	5	1	3	1	5	0	3	rs76579573		C3L-02549_TP	C3L-02549_NB	C	C																c.930G>A	p.=	p.A310A	ENST00000299578	4/4	175	156	19	151	151	0	strelka-varscan-mutect	C16orf46,synonymous_variant,p.=,ENST00000378611,NM_001100873.1;C16orf46,synonymous_variant,p.=,ENST00000299578,NM_152337.2;C16orf46,downstream_gene_variant,,ENST00000565253,;RP11-303E16.5,downstream_gene_variant,,ENST00000562450,;RP11-303E16.8,intron_variant,,ENST00000564536,;C16orf46,downstream_gene_variant,,ENST00000444657,;	T	ENST00000299578	Transcript	synonymous_variant	1166/1605	930/1188	310/395	A	gcG/gcA	rs76579573,COSM1141023,COSM1380041,COSM1380042,COSM559295	1		-1	C16orf46	HGNC	HGNC:26525	protein_coding	YES	CCDS10932.1	ENSP00000299578	Q6P387		UPI000013E5BE	NM_152337.2			4/4		hmmpanther:PTHR36869:SF1,hmmpanther:PTHR36869,Pfam_domain:PF15032											0,1,1,1,1						LOW	1	SNV	2		0,1,1,1,1	1										PASS		rs76579573	.												T	2	4	36	81061419	81061419	C	T	1	0	0	0	0	0	0	0	1	1856	523	19	1		1	C16orf46	16	81061419	Silent	SNP	C	C3L-02549_TP		81061419	9276926	25	9913											
GUCY2D	0	.	GRCh38	chr17	8012492	8012492	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcgtggctcatgggcggCtgaagtcacggaactgcata	9	7	16	9	3	2	1	2	1	0	0	2	3	2	2	0	5	2	3	0	5	3	1	rs746361123		C3L-02549_TP	C3L-02549_NB	C	C																c.1999C>A	p.Leu667Met	p.L667M	ENST00000254854	10/20	377	322	55	323	323	0	strelka-varscan-mutect	GUCY2D,missense_variant,p.Leu667Met,ENST00000254854,NM_000180.3;RP11-1099M24.9,downstream_gene_variant,,ENST00000623126,;GUCY2D,upstream_gene_variant,,ENST00000574510,;	A	ENST00000254854	Transcript	missense_variant	2149/3698	1999/3312	667/1103	L/M	Ctg/Atg	rs746361123	1		1	GUCY2D	HGNC	HGNC:4689	protein_coding	YES	CCDS11127.1	ENSP00000254854	Q02846		UPI0000128C1C	NM_000180.3	deleterious(0)		10/20		PROSITE_profiles:PS50011,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF228,Pfam_domain:PF07714,Gene3D:1.10.510.10,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs746361123	.												A	3	1	36	8012492	8012492	C	A	1	0	0	0	0	1	0	0	0	6779	796	28	2		2	GUCY2D	17	8012492	Missense_Mutation	SNP	C	C3L-02549_TP		8012492	75244949	26	9914											
STK11	0	.	GRCh38	chr19	1221996	1221996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctccatccggcagatcCggcagcacaggtgagcggcc	7	6	14	14	3	1	2	0	1	1	1	4	2	3	2	4	5	2	4	4	5	0	1	rs786201090		C3L-02549_TP	C3L-02549_NB	C	C																c.910C>T	p.Arg304Trp	p.R304W	ENST00000326873	7/10	234	203	31	287	287	0	strelka-varscan-mutect	STK11,missense_variant,p.Arg304Trp,ENST00000586243,;STK11,missense_variant,p.Arg304Trp,ENST00000326873,NM_000455.4;STK11,upstream_gene_variant,,ENST00000585465,;STK11,downstream_gene_variant,,ENST00000585748,;STK11,downstream_gene_variant,,ENST00000585851,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000591133,;STK11,downstream_gene_variant,,ENST00000586358,;STK11,downstream_gene_variant,,ENST00000593219,;	T	ENST00000326873	Transcript	missense_variant	1360/2611	910/1302	304/433	R/W	Cgg/Tgg	rs786201090,CD044169,CM981870,KinMutBase_STK11_DNA:g.16083C>T,COSM29468,COSM48789	1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4	deleterious(0)		7/10		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112										pathogenic	0,0,0,0,1,1						MODERATE	1	SNV	1		1,1,1,0,1,1	1										PASS		rs786201090	.												T	3	4	36	1221996	1221996	C	T	1	0	0	0	0	1	0	0	0	15664	643	23	1		1	STK11	19	1221996	Missense_Mutation	SNP	C	C3L-02549_TP		1221996	57395620	27	9915											
SMARCA4	0	.	GRCh38	chr19	11021757	11021768	+	In_Frame_Del	DEL	TCACCGCATGAA	TCACCGCATGAA	-																															tacatgattgtggacgaaggTcaccgcatgaagaaccacca																								novel		C3L-02549_TP	C3L-02549_NB	TCACCGCATGAA	TCACCGCATGAA																c.2649_2660delTCACCGCATGAA	p.His884_Lys887del	p.H884_K887del	ENST00000429416	20/36	238	192	46	248	248	0	sindel-varindel-pindel	SMARCA4,inframe_deletion,p.His884_Lys887del,ENST00000429416,NM_001128844.1;SMARCA4,inframe_deletion,p.His948_Lys951del,ENST00000413806,;SMARCA4,inframe_deletion,p.His884_Lys887del,ENST00000450717,NM_001128849.1;SMARCA4,inframe_deletion,p.His884_Lys887del,ENST00000344626,NM_003072.3;SMARCA4,inframe_deletion,p.His884_Lys887del,ENST00000590574,NM_001128847.1;SMARCA4,inframe_deletion,p.His884_Lys887del,ENST00000589677,NM_001128846.1;SMARCA4,inframe_deletion,p.His884_Lys887del,ENST00000541122,NM_001128845.1;SMARCA4,inframe_deletion,p.His884_Lys887del,ENST00000444061,NM_001128848.1;SMARCA4,non_coding_transcript_exon_variant,,ENST00000586122,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000587988,;	-	ENST00000429416	Transcript	inframe_deletion	2930-2941/5691	2649-2660/4944	883-887/1647	GHRMK/G	ggTCACCGCATGAAg/ggg		1		1	SMARCA4	HGNC	HGNC:11100	protein_coding	YES	CCDS12253.1	ENSP00000395654	P51532	A7E2E1	UPI000006F973	NM_001128844.1			20/36		PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	deletion	2			1										PASS		.	.												-	7	5	36	11021757	11021757	TCACCGCATGAA	-	1	0	1	0	1	0	0	0	0	15063	1654	58	0		0	SMARCA4	19	11021757	In_Frame_Del	DEL	TCACCGCATGAA	C3L-02549_TP	9799761	11021757	47595859	28	9916											
TNNI3	0	.	GRCh38	chr19	55156657	55156657	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattttttctgccagggtgaGatggagcaaggaaggatcat	11	11	14	5	0	2	1	1	1	1	1	2	6	2	4	1	4	2	1	1	4	2	3	novel		C3L-02549_TP	C3L-02549_NB	G	G																c.21C>A	p.=	p.I7I	ENST00000588882	1/5	344	282	62	234	233	1	strelka-varscan-mutect	TNNI3,synonymous_variant,p.=,ENST00000588882,;TNNI3,synonymous_variant,p.=,ENST00000586858,;TNNI3,intron_variant,,ENST00000344887,NM_000363.4;DNAAF3,downstream_gene_variant,,ENST00000455045,NM_001256716.1;DNAAF3,downstream_gene_variant,,ENST00000527223,NM_001256714.1;DNAAF3,downstream_gene_variant,,ENST00000391720,NM_178837.4;DNAAF3,downstream_gene_variant,,ENST00000524407,NM_001256715.1;DNAAF3,downstream_gene_variant,,ENST00000588076,;CTD-2587H24.5,upstream_gene_variant,,ENST00000591665,;TNNI3,intron_variant,,ENST00000590463,;TNNI3,intron_variant,,ENST00000586669,;DNAAF3,downstream_gene_variant,,ENST00000587789,;DNAAF3,downstream_gene_variant,,ENST00000527166,;DNAAF3,downstream_gene_variant,,ENST00000527292,;TNNI3,intron_variant,,ENST00000587176,;CTD-2587H24.4,intron_variant,,ENST00000587871,;DNAAF3,downstream_gene_variant,,ENST00000528412,;DNAAF3,downstream_gene_variant,,ENST00000533527,;TNNI3,upstream_gene_variant,,ENST00000585806,;DNAAF3,downstream_gene_variant,,ENST00000526959,;TNNI3,downstream_gene_variant,,ENST00000586446,;TNNI3,upstream_gene_variant,,ENST00000589864,;	T	ENST00000588882	Transcript	synonymous_variant	69/669	21/558	7/185	I	atC/atA		1		-1	TNNI3	HGNC	HGNC:11947	protein_coding			ENSP00000466729		K7EN02	UPI0000F06635				1/5																			LOW		SNV	2			1										PASS		.	.												T	2	4	36	55156657	55156657	G	T	1	0	0	0	0	0	0	0	1	16801	932	33	2		2	TNNI3	19	55156657	Silent	SNP	G	C3L-02549_TP	44134900	55156657	3460959	29	9917											
ZNF470	0	.	GRCh38	chr19	56574395	56574395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catatttgtgtcattttaggGttcagtgactttcacagatg	9	17	9	6	0	3	2	3	1	0	1	3	2	3	2	0	1	0	1	0	1	2	6	novel		C3L-02549_TP	C3L-02549_NB	G	G																c.62G>T	p.Gly21Val	p.G21V	ENST00000330619	4/6	171	141	30	135	135	0	strelka-varscan-mutect	ZNF470,missense_variant,p.Gly21Val,ENST00000330619,NM_001001668.3;ZNF470,missense_variant,p.Gly21Val,ENST00000391709,;ZNF470,missense_variant,p.Gly21Val,ENST00000601902,;ZNF470,upstream_gene_variant,,ENST00000594953,;ZNF470,intron_variant,,ENST00000601059,;	T	ENST00000330619	Transcript	missense_variant,splice_region_variant	748/7151	62/2154	21/717	G/V	gGt/gTt		1		1	ZNF470	HGNC	HGNC:22220	protein_coding	YES	CCDS33122.1	ENSP00000333223	Q6ECI4		UPI0000D61826	NM_001001668.3	tolerated(0.15)		4/6		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF282,Superfamily_domains:0044637																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	36	56574395	56574395	G	T	1	0	0	0	0	1	0	0	0	18501	1275	44	2		2	ZNF470	19	56574395	Missense_Mutation	SNP	G	C3L-02549_TP	1417738	56574395	2043221	30	9918											
PROCR	0	.	GRCh38	chr20	35176431	35176431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcagaaacatatttccGcggaaaacacgaaaggtatg	16	8	10	7	3	0	1	0	0	0	1	1	3	1	2	1	2	3	2	1	2	6	3	novel		C3L-02549_TP	C3L-02549_NB	G	G																c.586G>A	p.Ala196Thr	p.A196T	ENST00000216968	3/4	128	99	29	146	146	0	strelka-varscan-mutect	PROCR,missense_variant,p.Ala196Thr,ENST00000216968,NM_006404.4;PROCR,missense_variant,p.Ala163Thr,ENST00000635377,;PROCR,missense_variant,p.Ala27Thr,ENST00000634509,;RP11-42O4.2,upstream_gene_variant,,ENST00000615962,;	A	ENST00000216968	Transcript	missense_variant	668/1348	586/717	196/238	A/T	Gcg/Acg		1		1	PROCR	HGNC	HGNC:9452	protein_coding	YES	CCDS13248.1	ENSP00000216968	Q9UNN8		UPI000012A08E	NM_006404.4	tolerated(0.76)		3/4		hmmpanther:PTHR15349,Gene3D:3.30.500.10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	36	35176431	35176431	G	A	1	0	0	0	0	1	0	0	0	12681	1087	38	1		1	PROCR	20	35176431	Missense_Mutation	SNP	G	C3L-02549_TP		35176431	29267736	31	9919											
SLC6A14	0	.	GRCh38	chrX	116440973	116440973	+	Frame_Shift_Del	DEL	C	C	-																															tcaccttttttaggcgccttCttgataccttatgcaattat																								novel		C3L-02549_TP	C3L-02549_NB	C	C																c.222delC	p.Leu75Ter	p.L75*	ENST00000598581	3/14	74	51	23	73	73	0	sindel-varindel-pindel	SLC6A14,frameshift_variant,p.Leu75Ter,ENST00000598581,NM_007231.4;	-	ENST00000598581	Transcript	frameshift_variant	310/4520	222/1929	74/642	F/X	ttC/tt		1		1	SLC6A14	HGNC	HGNC:11047	protein_coding	YES	CCDS14570.1	ENSP00000470801	Q9UN76		UPI0000072E3C	NM_007231.4			3/14		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF160,PROSITE_patterns:PS00610,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	36	116440973	116440973	C	-	1	0	1	0	1	0	0	0	0	14960	912	32	0		0	SLC6A14	23	116440973	Frame_Shift_Del	DEL	C	C3L-02549_TP		116440973	39599922	32	9920											
CNR2	0	.	GRCh38	chr1	23875267	23875267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctacccacagaggctgtGaaggtcatagtcacgctgcc	10	7	12	12	1	2	2	2	1	0	1	2	2	2	2	2	3	2	3	2	3	3	2	novel		C3N-00167_TP	C3N-00167_NB	G	G																c.351C>A	p.Phe117Leu	p.F117L	ENST00000374472	2/2	106	79	27	147	147	0	strelka-varscan-mutect	CNR2,missense_variant,p.Phe117Leu,ENST00000374472,NM_001841.2;	T	ENST00000374472	Transcript	missense_variant	513/5254	351/1083	117/360	F/L	ttC/ttA		1		-1	CNR2	HGNC	HGNC:2160	protein_coding	YES	CCDS245.1	ENSP00000363596	P34972	A0A024RAH7	UPI000000DCA3	NM_001841.2	deleterious(0)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	37	23875267	23875267	G	T	1	0	0	0	0	1	0	0	0	3414	1281	45	2		2	CNR2	1	23875267	Missense_Mutation	SNP	G	C3N-00167_TP		23875267	225081155	1	9921											
PSMB2	0	.	GRCh38	chr1	35609259	35609259	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttactcggtgtgtagtaTcggtcgaggatactgagagt	9	13	13	6	3	0	1	0	1	0	1	3	4	0	2	0	3	3	2	0	3	5	5	rs768767264		C3N-00167_TP	C3N-00167_NB	T	T																c.435A>G	p.=	p.R145R	ENST00000373237	4/6	78	67	11	72	72	0	strelka-varscan-mutect	PSMB2,synonymous_variant,p.=,ENST00000621781,NM_001199780.1;PSMB2,synonymous_variant,p.=,ENST00000373237,NM_001199779.1,NM_002794.4;PSMB2,non_coding_transcript_exon_variant,,ENST00000630477,;	C	ENST00000373237	Transcript	synonymous_variant	847/2701	435/606	145/201	R	cgA/cgG	rs768767264	1		-1	PSMB2	HGNC	HGNC:9539	protein_coding	YES	CCDS394.1	ENSP00000362334	P49721	A0A140VJS6	UPI0000111E4C	NM_001199779.1,NM_002794.4			4/6		Gene3D:3.60.20.10,Pfam_domain:PF00227,PROSITE_profiles:PS51476,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF6,Superfamily_domains:SSF56235																	LOW	1	SNV	1			1										PASS		rs768767264	.												C	2	2	37	35609259	35609259	T	C	1	0	0	0	0	0	0	0	1	12828	1422	50	5		5	PSMB2	1	35609259	Silent	SNP	T	C3N-00167_TP	11733992	35609259	213347163	2	9922											
CAMSAP2	0	.	GRCh38	chr1	200848700	200848700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgacatggatgatgcatCtaaatttcttcaggattatg	11	15	8	7	0	4	2	1	2	3	0	4	4	4	4	0	2	1	1	0	2	3	4	novel		C3N-00167_TP	C3N-00167_NB	C	C																c.1964C>T	p.Ser655Phe	p.S655F	ENST00000236925	12/18	172	142	30	169	169	0	strelka-varscan-mutect	CAMSAP2,missense_variant,p.Ser644Phe,ENST00000358823,NM_203459.2;CAMSAP2,missense_variant,p.Ser655Phe,ENST00000236925,NM_001297707.1;CAMSAP2,missense_variant,p.Ser628Phe,ENST00000413307,NM_001297708.1;CAMSAP2,intron_variant,,ENST00000447701,;	T	ENST00000236925	Transcript	missense_variant	2013/7161	1964/4470	655/1489	S/F	tCt/tTt		1		1	CAMSAP2	HGNC	HGNC:29188	protein_coding	YES	CCDS72998.1	ENSP00000236925	Q08AD1		UPI0000160246	NM_001297707.1	deleterious(0.02)		12/18		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF1																	MODERATE	1	SNV	1			1										PASS		rs1274117018	.												T	3	4	37	200848700	200848700	C	T	1	0	0	0	0	1	0	0	0	2304	913	32	3		3	CAMSAP2	1	200848700	Missense_Mutation	SNP	C	C3N-00167_TP	165239441	200848700	48107722	3	9923											
OBSCN	0	.	GRCh38	chr1	228292744	228292744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggggagtactcgtgcGtgtgcgggcaggagaggacc	8	6	18	9	3	0	1	0	0	0	1	1	4	0	3	1	5	3	2	1	5	1	1	rs374049885		C3N-00167_TP	C3N-00167_NB	G	G																c.12112G>A	p.Val4038Met	p.V4038M	ENST00000570156	45/116	432	350	82	385	385	0	strelka-varscan-mutect	OBSCN,missense_variant,p.Val4038Met,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Val4038Met,ENST00000366707,;OBSCN,missense_variant,p.Val3609Met,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Val3609Met,ENST00000636875,;OBSCN,missense_variant,p.Val3609Met,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Val885Met,ENST00000483539,;RP5-1139B12.4,downstream_gene_variant,,ENST00000602778,;OBSCN,upstream_gene_variant,,ENST00000494839,;	A	ENST00000570156	Transcript	missense_variant	12186/26925	12112/26772	4038/8923	V/M	Gtg/Atg	rs374049885	1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	tolerated(0.18)		45/116		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF708,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		rs374049885	.												A	3	1	37	228292744	228292744	G	A	1	0	0	0	0	1	0	0	0	10889	1145	40	1		1	OBSCN	1	228292744	Missense_Mutation	SNP	G	C3N-00167_TP	27444044	228292744	20663678	4	9924											
MEIS1	0	.	GRCh38	chr2	66568740	66568740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggacggtcagcaacatatGggaattagagcaccaggtaa	15	7	12	7	1	1	1	1	0	0	1	1	3	1	3	1	4	3	3	1	4	5	3	novel		C3N-00167_TP	C3N-00167_NB	G	G																c.1098G>T	p.Met366Ile	p.M366I	ENST00000272369	11/13	247	216	31	234	234	0	strelka-varscan	MEIS1,missense_variant,p.Met366Ile,ENST00000488550,;MEIS1,missense_variant,p.Met366Ile,ENST00000272369,NM_002398.2;MEIS1,missense_variant,p.Met364Ile,ENST00000398506,;MEIS1,missense_variant,p.Met301Ile,ENST00000495021,;MEIS1,downstream_gene_variant,,ENST00000560281,;MEIS1,non_coding_transcript_exon_variant,,ENST00000409517,;MEIS1,non_coding_transcript_exon_variant,,ENST00000450027,;MEIS1,non_coding_transcript_exon_variant,,ENST00000542964,;MEIS1,downstream_gene_variant,,ENST00000475239,;MEIS1,downstream_gene_variant,,ENST00000606455,;	T	ENST00000272369	Transcript	missense_variant	1555/4291	1098/1173	366/390	M/I	atG/atT		1		1	MEIS1	HGNC	HGNC:7000	protein_coding	YES	CCDS46309.1	ENSP00000272369	O00470		UPI000000DA5A	NM_002398.2	deleterious(0.01)		11/13		hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF126																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	37	66568740	66568740	G	T	1	0	0	0	0	1	0	0	0	9411	1348	47	2		2	MEIS1	2	66568740	Missense_Mutation	SNP	G	C3N-00167_TP		66568740	175624789	5	9925											
AMER3	0	.	GRCh38	chr2	130762473	130762473	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgactaccgccactttgtgcCccagatgccctttgtgccag	6	10	9	16	2	0	1	0	0	0	1	0	2	0	1	6	0	4	0	6	0	1	3	novel		C3N-00167_TP	C3N-00167_NB	C	C																c.401C>A	p.Pro134His	p.P134H	ENST00000423981	2/2	129	118	11	150	150	0	strelka-varscan	AMER3,missense_variant,p.Pro134His,ENST00000423981,NM_001105193.1,NM_001105195.1,NM_001105194.1;AMER3,missense_variant,p.Pro134His,ENST00000321420,NM_152698.2;AMER3,missense_variant,p.Pro134His,ENST00000458606,;AMER3,missense_variant,p.Pro134His,ENST00000431758,;	A	ENST00000423981	Transcript	missense_variant	511/6172	401/2586	134/861	P/H	cCc/cAc		1		1	AMER3	HGNC	HGNC:26771	protein_coding	YES	CCDS2164.1	ENSP00000392700	Q8N944		UPI0000D61239	NM_001105193.1,NM_001105195.1,NM_001105194.1	deleterious(0)		2/2		hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2																	MODERATE	1	SNV	4			1										PASS		.	.												A	3	1	37	130762473	130762473	C	A	1	0	0	0	0	1	0	0	0	669	623	22	2		2	AMER3	2	130762473	Missense_Mutation	SNP	C	C3N-00167_TP	64193733	130762473	111431056	6	9926											
TIGIT	0	.	GRCh38	chr3	114294111	114294111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggggctgaggcaggctcCcctcgcctcaggtaaggcct	6	6	14	15	1	1	1	1	1	0	0	3	1	2	1	5	6	0	4	5	6	1	1	novel		C3N-00167_TP	C3N-00167_NB	C	C																c.50C>T	p.Pro17Leu	p.P17L	ENST00000486257	2/5	104	81	23	116	116	0	strelka-varscan-mutect	TIGIT,missense_variant,p.Pro84Leu,ENST00000481065,;TIGIT,missense_variant,p.Pro17Leu,ENST00000486257,;TIGIT,missense_variant,p.Pro17Leu,ENST00000383671,NM_173799.3;TIGIT,intron_variant,,ENST00000461158,;TIGIT,upstream_gene_variant,,ENST00000484319,;TIGIT,non_coding_transcript_exon_variant,,ENST00000485814,;	T	ENST00000486257	Transcript	missense_variant	307/3149	50/735	17/244	P/L	cCc/cTc		1		1	TIGIT	HGNC	HGNC:26838	protein_coding	YES	CCDS2980.1	ENSP00000419085	Q495A1		UPI000013F7B8		tolerated(0.47)		2/5		PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF49,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	5			1										PASS		rs897902406	.												T	3	4	37	114294111	114294111	C	T	1	0	0	0	0	1	0	0	0	16340	623	22	3		3	TIGIT	3	114294111	Missense_Mutation	SNP	C	C3N-00167_TP		114294111	84001448	7	9927											
TET2	0	.	GRCh38	chr4	105234177	105234177	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcgtgtgagtcctgactttAcacaagaaagtagagggtat	12	11	12	6	1	0	4	0	2	0	2	2	4	1	4	1	1	1	2	1	1	5	4	novel		C3N-00167_TP	C3N-00167_NB	A	A																c.235A>G	p.Thr79Ala	p.T79A	ENST00000540549	3/11	231	202	29	226	226	0	strelka-varscan-mutect	TET2,missense_variant,p.Thr100Ala,ENST00000513237,;TET2,missense_variant,p.Thr79Ala,ENST00000540549,;TET2,missense_variant,p.Thr79Ala,ENST00000380013,NM_001127208.2;TET2,missense_variant,p.Thr79Ala,ENST00000305737,NM_017628.4;TET2,missense_variant,p.Thr79Ala,ENST00000413648,;TET2,missense_variant,p.Thr79Ala,ENST00000514870,;TET2,missense_variant,p.Thr79Ala,ENST00000265149,;	G	ENST00000540549	Transcript	missense_variant	1095/10166	235/6009	79/2002	T/A	Aca/Gca		1		1	TET2	HGNC	HGNC:25941	protein_coding	YES	CCDS47120.1	ENSP00000442788	Q6N021	A0A158SIU0	UPI00001D75E4		tolerated(0.06)		3/11		hmmpanther:PTHR23358:SF3,hmmpanther:PTHR23358																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	37	105234177	105234177	A	G	1	0	0	0	0	1	0	0	0	16191	391	14	5		5	TET2	4	105234177	Missense_Mutation	SNP	A	C3N-00167_TP		105234177	84980378	8	9928											
FAT4	0	.	GRCh38	chr4	125316928	125316928	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacggtgtggaccaccgcTcctaccgcatcatccgcggc	8	6	10	17	5	1	0	1	0	0	0	3	1	3	1	5	3	2	2	5	3	2	1	novel		C3N-00167_TP	C3N-00167_NB	T	T																c.517T>A	p.Ser173Thr	p.S173T	ENST00000394329	1/17	200	189	11	310	310	0	strelka-varscan-mutect	FAT4,missense_variant,p.Ser173Thr,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;	A	ENST00000394329	Transcript	missense_variant	530/16123	517/14946	173/4981	S/T	Tcc/Acc		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	tolerated(0.67)		1/17		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	37	125316928	125316928	T	A	1	0	0	0	0	1	0	0	0	5552	1551	54	4		4	FAT4	4	125316928	Missense_Mutation	SNP	T	C3N-00167_TP	20082751	125316928	64897627	9	9929											
NEIL3	0	.	GRCh38	chr4	177351551	177351551	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgacctcaaggcctattggTaagactgaattttgattttg	10	16	9	6	0	1	4	1	3	0	1	1	4	1	4	2	2	0	1	2	2	4	8	novel		C3N-00167_TP	C3N-00167_NB	T	T																c.1039+2T>C		p.X347_splice	ENST00000264596		87	82	5	98	98	0	strelka-varscan-mutect	NEIL3,splice_donor_variant,,ENST00000264596,NM_018248.2;RP11-376O6.2,intron_variant,,ENST00000506895,;NEIL3,intron_variant,,ENST00000513321,;	C	ENST00000264596	Transcript	splice_donor_variant	-/2408	1039/1818	347/605				1		1	NEIL3	HGNC	HGNC:24573	protein_coding	YES	CCDS3828.1	ENSP00000264596	Q8TAT5		UPI000013D53D	NM_018248.2				7/9																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	37	177351551	177351551	T	C	1	0	0	0	0	0	0	1	0	10348	1652	57	5		5	NEIL3	4	177351551	Splice_Site	SNP	T	C3N-00167_TP	52034623	177351551	12863004	10	9930											
PAPD7	0	.	GRCh38	chr5	6746323	6746323	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacttgaaaaccggtattaGaatcaaagaaggaggtgcct	15	10	10	6	1	1	3	1	1	0	2	1	4	1	4	2	3	3	1	2	3	8	4	novel		C3N-00167_TP	C3N-00167_NB	G	G																c.605G>C	p.Arg202Thr	p.R202T	ENST00000631941	7/13	284	244	40	217	217	0	strelka-varscan-mutect	PAPD7,missense_variant,p.Arg452Thr,ENST00000230859,;PAPD7,missense_variant,p.Arg202Thr,ENST00000631941,NM_006999.4,NM_001171805.1;PAPD7,non_coding_transcript_exon_variant,,ENST00000514697,;PAPD7,non_coding_transcript_exon_variant,,ENST00000511764,;PAPD7,upstream_gene_variant,,ENST00000505457,;PAPD7,upstream_gene_variant,,ENST00000514410,;	C	ENST00000631941	Transcript	missense_variant	793/1902	605/1629	202/542	R/T	aGa/aCa		1		1	PAPD7	HGNC	HGNC:16705	protein_coding	YES	CCDS3871.1	ENSP00000488642	Q5XG87		UPI0000071E30	NM_006999.4,NM_001171805.1	deleterious(0)		7/13		Pfam_domain:PF03828,hmmpanther:PTHR23092,hmmpanther:PTHR23092:SF24,Superfamily_domains:SSF81631																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	37	6746323	6746323	G	C	1	0	0	0	0	1	0	0	0	11507	942	33	4		4	PAPD7	5	6746323	Missense_Mutation	SNP	G	C3N-00167_TP		6746323	174791936	11	9931											
HSD17B4	0	.	GRCh38	chr5	119541983	119541983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgattcttaaagactacGccaagctctgaagggcacac	14	8	9	10	1	2	4	0	2	2	2	2	4	2	4	1	1	2	2	1	1	5	3	rs751064948		C3N-00167_TP	C3N-00167_NB	G	G																c.2275G>A	p.Ala759Thr	p.A759T	ENST00000504811	25/25	356	256	100	372	372	0	strelka-varscan-mutect	HSD17B4,missense_variant,p.Ala759Thr,ENST00000504811,NM_001199291.2;HSD17B4,missense_variant,p.Ala734Thr,ENST00000256216,NM_000414.3;HSD17B4,missense_variant,p.Ala710Thr,ENST00000510025,NM_001292027.1;HSD17B4,missense_variant,p.Ala594Thr,ENST00000414835,NM_001292028.1;HSD17B4,missense_variant,p.Ala716Thr,ENST00000515320,NM_001199292.1;HSD17B4,missense_variant,p.Ala472Thr,ENST00000509514,;HSD17B4,missense_variant,p.Ala597Thr,ENST00000513628,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000522415,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000509951,;HSD17B4,3_prime_UTR_variant,,ENST00000442060,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000503310,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000509606,;HSD17B4,intron_variant,,ENST00000515235,;	A	ENST00000504811	Transcript	missense_variant	2459/2740	2275/2286	759/761	A/T	Gcc/Acc	rs751064948,COSM5003454	1		1	HSD17B4	HGNC	HGNC:5213	protein_coding	YES	CCDS56379.1	ENSP00000420914	P51659		UPI0001AE7403	NM_001199291.2	deleterious(0.03)		25/25		Gene3D:3.30.1050.10,Coiled-coils_(Ncoils):Coil											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs751064948	.												A	3	1	37	119541983	119541983	G	A	1	0	0	0	0	1	0	0	0	7281	1087	38	1		1	HSD17B4	5	119541983	Missense_Mutation	SNP	G	C3N-00167_TP	112795660	119541983	61996276	12	9932											
PCDHB6	0	.	GRCh38	chr5	141152059	141152059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccagaacgcctggctgtCgtaccagctgctcaaggcca	8	6	13	14	2	1	1	1	0	0	1	2	1	1	1	4	3	4	4	4	3	3	1	rs373141144		C3N-00167_TP	C3N-00167_NB	C	C																c.1802C>T	p.Ser601Leu	p.S601L	ENST00000231136	1/1	492	437	55	448	448	0	varscan-mutect	PCDHB6,missense_variant,p.Ser601Leu,ENST00000231136,NM_018939.3;PCDHB6,missense_variant,p.Ser465Leu,ENST00000622991,NM_001303145.1;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;PCDHB17P,upstream_gene_variant,,ENST00000623466,;PCDHB17P,upstream_gene_variant,,ENST00000539533,;	T	ENST00000231136	Transcript	missense_variant	2038/3266	1802/2385	601/794	S/L	tCg/tTg	rs373141144,COSM4901610	1		1	PCDHB6	HGNC	HGNC:8691	protein_coding	YES	CCDS4248.1	ENSP00000231136	Q9Y5E3		UPI0003CC25E7	NM_018939.3	deleterious(0)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1						MODERATE	1	SNV			0,1	1										PASS		rs373141144	.												T	3	4	37	141152059	141152059	C	T	1	0	0	0	0	1	0	0	0	11633	893	31	1		1	PCDHB6	5	141152059	Missense_Mutation	SNP	C	C3N-00167_TP	21610076	141152059	40386200	13	9933											
GABRB2	0	.	GRCh38	chr5	161326385	161326385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgtatacagagagaaatCgtaattggtagtccgtctag	14	10	10	7	3	1	2	0	0	1	2	3	3	2	2	2	1	2	3	2	1	7	6	rs150956270		C3N-00167_TP	C3N-00167_NB	C	C																c.1174G>T	p.Asp392Tyr	p.D392Y	ENST00000274547	10/11	130	107	23	150	148	2	strelka-varscan-mutect	GABRB2,missense_variant,p.Asp392Tyr,ENST00000274547,NM_021911.2;GABRB2,missense_variant,p.Asp392Tyr,ENST00000393959,;GABRB2,intron_variant,,ENST00000520240,;GABRB2,intron_variant,,ENST00000353437,NM_000813.2;GABRB2,intron_variant,,ENST00000517901,;GABRB2,intron_variant,,ENST00000517547,;GABRB2,downstream_gene_variant,,ENST00000612710,;	A	ENST00000274547	Transcript	missense_variant	1392/7409	1174/1539	392/512	D/Y	Gat/Tat	rs150956270,COSM4346303,COSM449248	1		-1	GABRB2	HGNC	HGNC:4082	protein_coding	YES	CCDS4355.1	ENSP00000274547	P47870		UPI000002AA29	NM_021911.2	deleterious(0.04)		10/11		TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs150956270	.												A	3	1	37	161326385	161326385	C	A	1	0	0	0	0	1	0	0	0	6038	884	31	1		1	GABRB2	5	161326385	Missense_Mutation	SNP	C	C3N-00167_TP	20174326	161326385	20211874	14	9934											
TNFRSF21	0	.	GRCh38	chr6	47286085	47286085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgtctgtctccttggtccCcggcttgatcaccaccaggt	4	13	10	14	1	3	1	1	1	2	0	5	1	4	1	5	3	0	2	5	3	0	3	novel		C3N-00167_TP	C3N-00167_NB	C	C																c.607G>T	p.Gly203Trp	p.G203W	ENST00000296861	2/6	388	323	65	440	440	0	strelka-varscan-mutect	TNFRSF21,missense_variant,p.Gly203Trp,ENST00000296861,NM_014452.4;	A	ENST00000296861	Transcript	missense_variant	1001/3595	607/1968	203/655	G/W	Ggg/Tgg		1		-1	TNFRSF21	HGNC	HGNC:13469	protein_coding	YES	CCDS4921.1	ENSP00000296861	O75509	A0A024RD71	UPI000004680F	NM_014452.4	deleterious(0)		2/6		hmmpanther:PTHR23097:SF127,hmmpanther:PTHR23097,Pfam_domain:PF00020,SMART_domains:SM00208																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	37	47286085	47286085	C	A	1	0	0	0	0	1	0	0	0	16769	623	22	2		2	TNFRSF21	6	47286085	Missense_Mutation	SNP	C	C3N-00167_TP		47286085	123519894	15	9935											
TRDN	0	.	GRCh38	chr6	123571113	123571113	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgctgtctatcacagtTgtggttgtagatgcatttcc	6	19	9	7	0	2	1	1	0	1	1	3	1	3	1	1	1	2	5	1	1	2	7	novel		C3N-00167_TP	C3N-00167_NB	T	T																c.42A>T	p.=	p.T14T	ENST00000334268	2/41	132	124	8	163	163	0	strelka-varscan	TRDN,synonymous_variant,p.=,ENST00000334268,NM_006073.3;TRDN,synonymous_variant,p.=,ENST00000628709,NM_001256020.1;TRDN,synonymous_variant,p.=,ENST00000542443,NM_001256022.1;TRDN,synonymous_variant,p.=,ENST00000546248,NM_001256021.1;	A	ENST00000334268	Transcript	synonymous_variant	360/4770	42/2190	14/729	T	acA/acT		1		-1	TRDN	HGNC	HGNC:12261	protein_coding	YES	CCDS55053.1	ENSP00000333984	Q13061		UPI0000D820CC	NM_006073.3			2/41		hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	37	123571113	123571113	T	A	1	0	0	0	0	0	0	0	1	16957	1799	63	4		4	TRDN	6	123571113	Silent	SNP	T	C3N-00167_TP	76285028	123571113	47234866	16	9936											
ANKMY2	0	.	GRCh38	chr7	16627085	16627085	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtatccatgttcatgctGatgacaatttacatcggctc	9	15	8	9	1	1	2	1	2	0	0	4	2	2	2	1	1	2	4	1	1	3	4	novel		C3N-00167_TP	C3N-00167_NB	G	G																c.226C>T	p.Gln76Ter	p.Q76*	ENST00000306999	3/10	241	170	71	155	155	0	strelka-varscan-mutect	ANKMY2,stop_gained,p.Gln76Ter,ENST00000306999,NM_020319.2;ANKMY2,stop_gained,p.Gln76Ter,ENST00000628652,;ANKMY2,downstream_gene_variant,,ENST00000421746,;ANKMY2,stop_gained,p.Gln76Ter,ENST00000447802,;ANKMY2,3_prime_UTR_variant,,ENST00000453623,;	A	ENST00000306999	Transcript	stop_gained	470/2555	226/1326	76/441	Q/*	Cag/Tag		1		-1	ANKMY2	HGNC	HGNC:25370	protein_coding	YES	CCDS5361.1	ENSP00000303570	Q8IV38	A0A024R9Z6	UPI0000035D93	NM_020319.2			3/10		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24150,hmmpanther:PTHR24150:SF9,Pfam_domain:PF12796,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	37	16627085	16627085	G	A	1	0	0	0	0	0	1	0	0	736	1299	45	3		3	ANKMY2	7	16627085	Nonsense_Mutation	SNP	G	C3N-00167_TP		16627085	142718888	17	9937											
EGFR	0	.	GRCh38	chr7	55174772	55174786	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-																															aaaattcccgtcgctatcaaGgaattaagagaagcaacatc																								rs121913421		C3N-00167_TP	C3N-00167_NB	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC																c.2235_2249delGGAATTAAGAGAAGC	p.Glu746_Ala750del	p.E746_A750del	ENST00000275493	19/28	565	357	208	547	547	0	sindel-varindel-pindel	EGFR,inframe_deletion,p.Glu746_Ala750del,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000454757,;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	-	ENST00000275493	Transcript	inframe_deletion	2412-2426/9821	2235-2249/3633	745-750/1210	KELREA/K	aaGGAATTAAGAGAAGCa/aaa	rs121913421,COSM6223	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1						MODERATE	1	deletion	1		1,1	1										PASS		.	.												-	7	5	37	55174772	55174772	GGAATTAAGAGAAGC	-	1	0	1	0	1	0	0	0	0	4803	991	35	0		0	EGFR	7	55174772	In_Frame_Del	DEL	GGAATTAAGAGAAGC	C3N-00167_TP	38547687	55174772	104171201	18	9938											
ADAM18	0	.	GRCh38	chr8	39729903	39729903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcttcactatagtaattCatccgttgtatcagaaagcg	11	16	6	8	2	4	1	3	0	1	1	5	1	5	1	1	0	1	3	1	0	5	9			C3N-00167_TP	C3N-00167_NB	C	C																c.2183C>T	p.Ser728Leu	p.S728L	ENST00000265707	20/20	126	110	16	112	112	0	strelka-varscan-mutect	ADAM18,missense_variant,p.Ser728Leu,ENST00000265707,NM_014237.2;ADAM18,missense_variant,p.Ser704Leu,ENST00000379866,NM_001320313.1;ADAM18,non_coding_transcript_exon_variant,,ENST00000523755,;ADAM18,3_prime_UTR_variant,,ENST00000520087,;	T	ENST00000265707	Transcript	missense_variant	2228/2388	2183/2220	728/739	S/L	tCa/tTa	COSM1099762	1		1	ADAM18	HGNC	HGNC:196	protein_coding	YES	CCDS6113.1	ENSP00000265707	Q9Y3Q7		UPI00001254D7	NM_014237.2	tolerated(0.1)		20/20		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF158											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	37	39729903	39729903	C	T	1	0	0	0	0	1	0	0	0	283	840	29	3		3	ADAM18	8	39729903	Missense_Mutation	SNP	C	C3N-00167_TP		39729903	105408733	19	9939											
COL22A1	0	.	GRCh38	chr8	138811885	138811885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggaggccgctggggtggggGtggaggtggaggctctgtca	4	7	24	6	1	2	0	1	0	1	0	2	3	2	3	1	10	0	2	1	10	0	0	rs537744559		C3N-00167_TP	C3N-00167_NB	G	G																c.1363C>A	p.Pro455Thr	p.P455T	ENST00000303045	9/65	75	70	5	78	78	0	varscan-mutect	COL22A1,missense_variant,p.Pro455Thr,ENST00000303045,NM_152888.2;COL22A1,intron_variant,,ENST00000435777,;	T	ENST00000303045	Transcript	missense_variant	1810/6346	1363/4881	455/1626	P/T	Ccc/Acc	rs537744559,COSM3951353	1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2	tolerated(0.15)		9/65		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs537744559	.												T	3	4	37	138811885	138811885	G	T	1	0	0	0	0	1	0	0	0	3469	1261	44	2		2	COL22A1	8	138811885	Missense_Mutation	SNP	G	C3N-00167_TP	99081982	138811885	6326751	20	9940											
GLDC	0	.	GRCh38	chr9	6589203	6589203	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacacacaaacctgttgaaCacttgatgggtgaggaacgg	14	7	12	8	1	0	4	0	3	0	1	0	5	0	5	1	3	3	1	1	3	3	2	rs373679781		C3N-00167_TP	C3N-00167_NB	C	C																c.1572G>C	p.=	p.V524V	ENST00000321612	12/25	281	218	63	417	417	0	strelka-varscan-mutect	GLDC,synonymous_variant,p.=,ENST00000321612,NM_000170.2;GLDC,downstream_gene_variant,,ENST00000463305,;	G	ENST00000321612	Transcript	synonymous_variant	1723/3767	1572/3063	524/1020	V	gtG/gtC	rs373679781	1		-1	GLDC	HGNC	HGNC:4313	protein_coding	YES	CCDS34987.1	ENSP00000370737	P23378		UPI0000684276	NM_000170.2			12/25		HAMAP:MF_00711,hmmpanther:PTHR11773,hmmpanther:PTHR11773:SF1,TIGRFAM_domain:TIGR00461																	LOW	1	SNV	1			1										PASS		rs373679781	.												G	2	3	37	6589203	6589203	C	G	1	0	0	0	0	0	0	0	1	6311	465	17	4		4	GLDC	9	6589203	Silent	SNP	C	C3N-00167_TP		6589203	131805514	21	9941											
NKX2-3	0	.	GRCh38	chr10	99533438	99533438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgcgagactcgtgcagcGagcccaaggaacatgaagag	12	5	13	11	3	0	3	0	1	0	2	2	6	1	4	2	1	5	1	2	1	3	0	novel		C3N-00167_TP	C3N-00167_NB	G	G																c.307G>A	p.Glu103Lys	p.E103K	ENST00000344586	1/2	117	108	9	118	118	0	strelka-varscan-mutect	NKX2-3,missense_variant,p.Glu103Lys,ENST00000344586,NM_145285.2;NKX2-3,missense_variant,p.Glu103Lys,ENST00000622383,;LINC01475,upstream_gene_variant,,ENST00000548010,;RP11-129J12.1,downstream_gene_variant,,ENST00000452494,;	A	ENST00000344586	Transcript	missense_variant	506/2097	307/1095	103/364	E/K	Gag/Aag		1		1	NKX2-3	HGNC	HGNC:7836	protein_coding	YES	CCDS41558.1	ENSP00000342828	Q8TAU0		UPI00001301E8	NM_145285.2	tolerated(0.86)		1/2		hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF32,Low_complexity_(Seg):seg																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	37	99533438	99533438	G	A	1	0	0	0	0	1	0	0	0	10487	1059	37	1		1	NKX2-3	10	99533438	Missense_Mutation	SNP	G	C3N-00167_TP		99533438	34263984	22	9942											
CPXM2	0	.	GRCh38	chr10	123770930	123770930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcaccgacttcatgctccCcagggtgatctgagatctcc	7	11	8	15	1	4	2	2	2	3	1	7	4	5	2	4	1	1	1	4	1	0	1	rs768013289		C3N-00167_TP	C3N-00167_NB	C	C																c.1088G>A	p.Gly363Glu	p.G363E	ENST00000241305	8/14	133	99	34	127	127	0	strelka-mutect	CPXM2,missense_variant,p.Gly363Glu,ENST00000241305,NM_198148.2;CPXM2,5_prime_UTR_variant,,ENST00000615851,;CPXM2,non_coding_transcript_exon_variant,,ENST00000368854,;	T	ENST00000241305	Transcript	missense_variant	1243/3554	1088/2271	363/756	G/E	gGg/gAg	rs768013289	1		-1	CPXM2	HGNC	HGNC:26977	protein_coding	YES	CCDS7637.1	ENSP00000241305	Q8N436		UPI00001AE6BE	NM_198148.2	deleterious(0)		8/14		hmmpanther:PTHR11532:SF45,hmmpanther:PTHR11532,Pfam_domain:PF00246,Gene3D:3.40.630.10,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		rs768013289	.												T	3	4	37	123770930	123770930	C	T	1	0	0	0	0	1	0	0	0	3636	623	22	3		3	CPXM2	10	123770930	Missense_Mutation	SNP	C	C3N-00167_TP	24237492	123770930	10026492	23	9943											
PHF21A	0	.	GRCh38	chr11	45969820	45969820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cattggtttactcacctgtgGaagaaagtttggacgtggag	10	12	13	6	1	1	1	1	0	0	1	1	4	1	4	1	4	1	2	1	4	3	4	novel		C3N-00167_TP	C3N-00167_NB	G	G																c.694C>T	p.Pro232Ser	p.P232S	ENST00000418153	8/18	167	138	29	159	158	1	strelka-varscan-mutect	PHF21A,missense_variant,p.Pro233Ser,ENST00000323180,NM_016621.3;PHF21A,missense_variant,p.Pro232Ser,ENST00000418153,NM_001101802.1;PHF21A,downstream_gene_variant,,ENST00000524497,;PHF21A,downstream_gene_variant,,ENST00000531959,;PHF21A,upstream_gene_variant,,ENST00000527753,;PHF21A,downstream_gene_variant,,ENST00000525679,;PHF21A,non_coding_transcript_exon_variant,,ENST00000527401,;PHF21A,downstream_gene_variant,,ENST00000532883,;	A	ENST00000418153	Transcript	missense_variant	894/2730	694/2043	232/680	P/S	Cca/Tca		1		-1	PHF21A	HGNC	HGNC:24156	protein_coding	YES	CCDS44578.1	ENSP00000398824	Q96BD5		UPI000006E1CB	NM_001101802.1	deleterious(0.03)		8/18		hmmpanther:PTHR24102:SF6,hmmpanther:PTHR24102																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	37	45969820	45969820	G	A	1	0	0	0	0	1	0	0	0	11919	1188	41	3		3	PHF21A	11	45969820	Missense_Mutation	SNP	G	C3N-00167_TP		45969820	89116802	24	9944											
DTX4	0	.	GRCh38	chr11	59199721	59199721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgggaagagtttcagcgCccgaggcttcccacgacact	8	8	11	14	3	1	1	1	0	0	1	3	4	3	2	3	2	1	2	3	2	1	2	novel		C3N-00167_TP	C3N-00167_NB	C	C																c.1574C>T	p.Ala525Val	p.A525V	ENST00000227451	8/9	293	248	45	286	286	0	strelka-varscan-mutect	DTX4,missense_variant,p.Ala525Val,ENST00000227451,NM_015177.1;DTX4,missense_variant,p.Ala419Val,ENST00000532982,NM_001300727.1;DTX4,non_coding_transcript_exon_variant,,ENST00000527475,;	T	ENST00000227451	Transcript	missense_variant	1678/5642	1574/1860	525/619	A/V	gCc/gTc		1		1	DTX4	HGNC	HGNC:29151	protein_coding	YES	CCDS44612.1	ENSP00000227451	Q9Y2E6		UPI00001C1F00	NM_015177.1	deleterious(0)		8/9		hmmpanther:PTHR12622:SF5,hmmpanther:PTHR12622																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	37	59199721	59199721	C	T	1	0	0	0	0	1	0	0	0	4620	739	26	3		3	DTX4	11	59199721	Missense_Mutation	SNP	C	C3N-00167_TP	13229901	59199721	75886901	25	9945											
PPME1	0	.	GRCh38	chr11	74230391	74230391	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtctgtgcatgattgatgTtgtagaaggtgagttttctt	7	17	14	3	0	2	4	0	3	2	1	2	4	2	4	0	2	1	4	0	2	2	6	novel		C3N-00167_TP	C3N-00167_NB	T	T																c.545T>G	p.Val182Gly	p.V182G	ENST00000398427	6/14	229	206	23	254	254	0	strelka-varscan-mutect	PPME1,missense_variant,p.Val182Gly,ENST00000328257,NM_016147.2;PPME1,missense_variant,p.Val182Gly,ENST00000398427,NM_001271593.1;PPME1,upstream_gene_variant,,ENST00000543525,;	G	ENST00000398427	Transcript	missense_variant	645/2496	545/1203	182/400	V/G	gTt/gGt		1		1	PPME1	HGNC	HGNC:30178	protein_coding	YES	CCDS60891.1	ENSP00000381461	Q9Y570		UPI0001639863	NM_001271593.1	deleterious(0)		6/14		hmmpanther:PTHR14189,Pfam_domain:PF12697,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF022950,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	37	74230391	74230391	T	G	1	0	0	0	0	1	0	0	0	12457	1725	60	5		5	PPME1	11	74230391	Missense_Mutation	SNP	T	C3N-00167_TP	15030670	74230391	60856231	26	9946											
TUBA3C	0	.	GRCh38	chr13	19177134	19177134	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccacggacagctgctcGtggtaggccttctcggctga	6	9	13	13	3	2	1	1	1	1	0	4	2	2	2	2	4	3	4	2	4	1	2	rs143115179		C3N-00167_TP	C3N-00167_NB	G	G																c.849C>T	p.=	p.H283H	ENST00000400113	4/5	155	147	8	209	206	3	varscan-mutect	TUBA3C,synonymous_variant,p.=,ENST00000400113,NM_006001.2;TUBA3C,synonymous_variant,p.=,ENST00000618094,;RP11-408E5.8,downstream_gene_variant,,ENST00000612362,;	A	ENST00000400113	Transcript	synonymous_variant	954/1551	849/1353	283/450	H	caC/caT	rs143115179	1		-1	TUBA3C	HGNC	HGNC:12408	protein_coding	YES	CCDS9284.1	ENSP00000382982	Q13748	Q1ZYQ1	UPI0000027DB1	NM_006001.2			4/5		hmmpanther:PTHR11588:SF94,hmmpanther:PTHR11588,Gene3D:3.30.1330.20,Pfam_domain:PF03953,SMART_domains:SM00865,Superfamily_domains:SSF55307,Prints_domain:PR01162																	LOW	1	SNV	5			1										PASS		rs143115179	.												A	2	1	37	19177134	19177134	G	A	1	0	0	0	0	0	0	0	1	17256	1136	40	1		1	TUBA3C	13	19177134	Silent	SNP	G	C3N-00167_TP		19177134	95187194	27	9947											
TRPC4	0	.	GRCh38	chr13	37783327	37783327	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttcttttgtaatagaactGagccatgtttcatgccatgc	10	16	7	8	0	2	2	1	1	1	1	2	2	2	2	2	0	4	2	2	0	3	6	novel		C3N-00167_TP	C3N-00167_NB	G	G																c.7C>T	p.Gln3Ter	p.Q3*	ENST00000625583	1/10	29	21	8	29	29	0	strelka-varscan-mutect	TRPC4,stop_gained,p.Gln3Ter,ENST00000379705,NM_016179.2;TRPC4,stop_gained,p.Gln3Ter,ENST00000625583,NM_003306.1;TRPC4,stop_gained,p.Gln3Ter,ENST00000358477,NM_001135955.1;TRPC4,stop_gained,p.Gln3Ter,ENST00000338947,NM_001135958.1;TRPC4,stop_gained,p.Gln3Ter,ENST00000355779,NM_001135957.1;TRPC4,stop_gained,p.Gln3Ter,ENST00000379673,NM_001135956.1;TRPC4,stop_gained,p.Gln3Ter,ENST00000426868,;TRPC4,stop_gained,p.Gln3Ter,ENST00000379679,;TRPC4,stop_gained,p.Gln3Ter,ENST00000488717,;	A	ENST00000625583	Transcript	stop_gained	7/3009	7/2949	3/982	Q/*	Cag/Tag		1		-1	TRPC4	HGNC	HGNC:12336	protein_coding	YES	CCDS45037.1	ENSP00000486109	Q9UBN4		UPI000006E5BE	NM_003306.1			1/10		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF25																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	37	37783327	37783327	G	A	1	0	0	0	0	0	1	0	0	17085	1299	45	3		3	TRPC4	13	37783327	Nonsense_Mutation	SNP	G	C3N-00167_TP	18606193	37783327	76581001	28	9948											
FRMD6	0	.	GRCh38	chr14	51715457	51715457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgcctctatatgaatctgCagcctgtcctgcgccatatc	8	11	7	15	2	2	1	0	1	2	0	4	1	3	1	5	0	3	1	5	0	4	3	novel		C3N-00167_TP	C3N-00167_NB	C	C																c.982C>A	p.Gln328Lys	p.Q328K	ENST00000344768	10/14	118	102	16	125	125	0	strelka-varscan-mutect	FRMD6,missense_variant,p.Gln320Lys,ENST00000395718,NM_152330.3;FRMD6,missense_variant,p.Gln320Lys,ENST00000356218,NM_001042481.2;FRMD6,missense_variant,p.Gln251Lys,ENST00000554167,;FRMD6,missense_variant,p.Gln328Lys,ENST00000344768,NM_001267046.1;FRMD6,missense_variant,p.Gln58Lys,ENST00000555197,;FRMD6,upstream_gene_variant,,ENST00000553556,NM_001267047.1;FRMD6,upstream_gene_variant,,ENST00000555703,;FRMD6,non_coding_transcript_exon_variant,,ENST00000557183,;FRMD6,non_coding_transcript_exon_variant,,ENST00000557522,;FRMD6,downstream_gene_variant,,ENST00000554495,;	A	ENST00000344768	Transcript	missense_variant	1178/2972	982/1869	328/622	Q/K	Cag/Aag		1		1	FRMD6	HGNC	HGNC:19839	protein_coding	YES	CCDS58318.1	ENSP00000343899	Q96NE9		UPI00000473F6	NM_001267046.1	tolerated(0.06)		10/14		Gene3D:2.30.29.30,Pfam_domain:PF09380,PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF9,SMART_domains:SM01196,Superfamily_domains:SSF50729																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	37	51715457	51715457	C	A	1	0	0	0	0	1	0	0	0	5924	711	25	2		2	FRMD6	14	51715457	Missense_Mutation	SNP	C	C3N-00167_TP		51715457	55328261	29	9949											
RTN1	0	.	GRCh38	chr14	59727508	59727508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggctggggatggttggCggtccggacctggccttgac	4	8	20	9	2	0	1	0	1	0	0	1	3	1	3	3	9	0	2	3	9	0	2			C3N-00167_TP	C3N-00167_NB	C	C																c.1176G>A	p.=	p.P392P	ENST00000267484	3/9	222	173	49	251	251	0	strelka-varscan-mutect	RTN1,synonymous_variant,p.=,ENST00000267484,NM_021136.2;RTN1,synonymous_variant,p.=,ENST00000611068,;RTN1,non_coding_transcript_exon_variant,,ENST00000432103,;	T	ENST00000267484	Transcript	synonymous_variant	1512/3435	1176/2331	392/776	P	ccG/ccA	COSM3786358	1		-1	RTN1	HGNC	HGNC:10467	protein_coding	YES	CCDS9740.1	ENSP00000267484	Q16799		UPI00001352DA	NM_021136.2			3/9		hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994											1						LOW	1	SNV	1		1	1										PASS		rs944737200	.												T	2	4	37	59727508	59727508	C	T	1	0	0	0	0	0	0	0	1	13985	755	27	1		1	RTN1	14	59727508	Silent	SNP	C	C3N-00167_TP	8012051	59727508	47316210	30	9950											
GOLGA8K	0	.	GRCh38	chr15	32396434	32396434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagacttatgcgctgattCtttttgacctgggcctggag	7	13	13	8	1	1	3	0	2	1	1	1	5	1	4	2	3	1	1	2	3	1	4	rs200425540		C3N-00167_TP	C3N-00167_NB	C	C																c.984G>C	p.Lys328Asn	p.K328N	ENST00000512626	12/19	63	58	5	104	104	0	varscan-mutect	GOLGA8K,missense_variant,p.Lys328Asn,ENST00000512626,NM_001282493.1;RN7SL185P,upstream_gene_variant,,ENST00000615150,;RP13-395E19.3,downstream_gene_variant,,ENST00000562108,;	G	ENST00000512626	Transcript	missense_variant	985/1894	984/1893	328/630	K/N	aaG/aaC	rs200425540	1		-1	GOLGA8K	HGNC	HGNC:38652	protein_coding	YES	CCDS61577.1	ENSP00000426691	D6RF30		UPI0001A5E7CC	NM_001282493.1	tolerated(1)		12/19		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15070,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48																	MODERATE		SNV	5			1										PASS		rs4042395	.												G	3	3	37	32396434	32396434	C	G	1	0	0	0	0	1	0	0	0	6453	912	32	4		4	GOLGA8K	15	32396434	Missense_Mutation	SNP	C	C3N-00167_TP		32396434	69594755	31	9951											
MYH11	0	.	GRCh38	chr16	15724919	15724919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgggaactgagggacGccacgtccttggccagctta	8	7	15	11	2	0	1	0	1	0	0	1	4	1	4	3	4	3	2	3	4	2	2	rs185720909		C3N-00167_TP	C3N-00167_NB	G	G																c.3953C>T	p.Ala1318Val	p.A1318V	ENST00000396324	30/42	434	370	64	444	443	1	strelka-varscan-mutect	MYH11,missense_variant,p.Ala1318Val,ENST00000452625,NM_001040113.1;MYH11,missense_variant,p.Ala1318Val,ENST00000396324,NM_001040114.1;MYH11,missense_variant,p.Ala1311Val,ENST00000576790,NM_022844.2;MYH11,missense_variant,p.Ala1311Val,ENST00000300036,NM_002474.2;NDE1,3_prime_UTR_variant,,ENST00000396355,NM_001143979.1;NDE1,3_prime_UTR_variant,,ENST00000396354,NM_017668.2;NDE1,downstream_gene_variant,,ENST00000572967,;NDE1,downstream_gene_variant,,ENST00000573694,;AF001548.5,upstream_gene_variant,,ENST00000574212,;NDE1,downstream_gene_variant,,ENST00000572503,;MYH11,non_coding_transcript_exon_variant,,ENST00000571275,;MYH11,upstream_gene_variant,,ENST00000576164,;	A	ENST00000396324	Transcript	missense_variant	4041/6847	3953/5940	1318/1979	A/V	gCg/gTg	rs185720909,COSM1608950,COSM1608951	1		-1	MYH11	HGNC	HGNC:7569	protein_coding	YES	CCDS45423.1	ENSP00000379616	P35749		UPI00005B7237	NM_001040114.1	tolerated(0.1)		30/42		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,Superfamily_domains:SSF90257										uncertain_significance	0,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs185720909	.												A	3	1	37	15724919	15724919	G	A	1	0	0	0	0	1	0	0	0	10031	1087	38	1		1	MYH11	16	15724919	Missense_Mutation	SNP	G	C3N-00167_TP		15724919	74613426	32	9952											
TP53	0	.	GRCh38	chr17	7674894	7674894	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2	rs397516436		C3N-00167_TP	C3N-00167_NB	G	G																c.637C>T	p.Arg213Ter	p.R213*	ENST00000269305	6/11	345	227	118	457	457	0	strelka-varscan-mutect	TP53,stop_gained,p.Arg213Ter,ENST00000617185,NM_001126114.2;TP53,stop_gained,p.Arg213Ter,ENST00000420246,;TP53,stop_gained,p.Arg174Ter,ENST00000622645,NM_001276696.1;TP53,stop_gained,p.Arg174Ter,ENST00000610292,NM_001126118.1;TP53,stop_gained,p.Arg213Ter,ENST00000455263,NM_001126113.2;TP53,stop_gained,p.Arg174Ter,ENST00000610538,NM_001276695.1;TP53,stop_gained,p.Arg213Ter,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,stop_gained,p.Arg174Ter,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,stop_gained,p.Arg213Ter,ENST00000445888,;TP53,stop_gained,p.Arg174Ter,ENST00000619485,;TP53,stop_gained,p.Arg81Ter,ENST00000510385,NM_001126116.1;TP53,stop_gained,p.Arg54Ter,ENST00000618944,NM_001276698.1;TP53,stop_gained,p.Arg81Ter,ENST00000504290,NM_001126117.1;TP53,stop_gained,p.Arg54Ter,ENST00000610623,NM_001276699.1;TP53,stop_gained,p.Arg81Ter,ENST00000504937,NM_001126115.1;TP53,stop_gained,p.Arg54Ter,ENST00000619186,NM_001276697.1;TP53,stop_gained,p.Arg213Ter,ENST00000359597,;TP53,stop_gained,p.Arg202Ter,ENST00000615910,;TP53,stop_gained,p.Arg213Ter,ENST00000413465,;TP53,stop_gained,p.Arg81Ter,ENST00000509690,;TP53,stop_gained,p.Arg120Ter,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,stop_gained,p.Arg174Ter,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	stop_gained	827/2579	637/1182	213/393	R/*	Cga/Tga	rs397516436,CM951226,TP53_g.12706del,TP53_g.12706C>T,TP53_g.12706C>G,TP53_g.12706C>A,COSM10654,COSM1638393,COSM3378350,COSM43798,COSM43807,COSM44102,COSM4862566,COSM4862567,COSM707888,COSM707889,COSM707890,COSM707891,COSM99615,COSM99616,COSM99617,COSM99618	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5			6/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										pathogenic	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						HIGH	1	SNV	1		1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs397516436	.												A	4	1	37	7674894	7674894	G	A	1	0	0	0	0	0	1	0	0	16859	1066	37	1		1	TP53	17	7674894	Nonsense_Mutation	SNP	G	C3N-00167_TP		7674894	75582547	33	9953											
SRCIN1	0	.	GRCh38	chr17	38561950	38561950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccaggctcagacggccctCgtgcagcagcccgtaggggt	6	5	16	14	3	1	1	1	0	0	1	2	1	1	1	3	5	3	4	3	5	1	1	novel		C3N-00167_TP	C3N-00167_NB	C	C																c.1213G>A	p.Glu405Lys	p.E405K	ENST00000617146	7/19	124	95	29	100	100	0	strelka-varscan-mutect	SRCIN1,missense_variant,p.Glu405Lys,ENST00000617146,NM_025248.2;SRCIN1,missense_variant,p.Glu439Lys,ENST00000621492,;SRCIN1,missense_variant,p.Glu193Lys,ENST00000622190,;SRCIN1,missense_variant,p.Glu465Lys,ENST00000612431,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000621763,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000622519,;SRCIN1,upstream_gene_variant,,ENST00000612208,;	T	ENST00000617146	Transcript	missense_variant	1438/7058	1213/3552	405/1183	E/K	Gag/Aag		1		-1	SRCIN1	HGNC	HGNC:29506	protein_coding	YES	CCDS45660.1	ENSP00000484715	Q9C0H9		UPI0000E27F82	NM_025248.2	deleterious(0)		7/19		hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF5																	MODERATE	1	SNV	2			1										PASS		rs1427180897	.												T	3	4	37	38561950	38561950	C	T	1	0	0	0	0	1	0	0	0	15494	893	31	1		1	SRCIN1	17	38561950	Missense_Mutation	SNP	C	C3N-00167_TP	30887056	38561950	44695491	34	9954											
EPG5	0	.	GRCh38	chr18	45952431	45952431	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaattgctgaagatctCagaacagctgaactactgag	13	10	11	7	0	1	6	1	4	1	2	2	6	1	6	0	1	5	2	0	1	5	2	novel		C3N-00167_TP	C3N-00167_NB	C	C																c.1221G>T	p.=	p.L407L	ENST00000282041	3/44	134	121	13	181	181	0	strelka-varscan-mutect	EPG5,synonymous_variant,p.=,ENST00000282041,NM_020964.2;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;	A	ENST00000282041	Transcript	synonymous_variant	1256/12633	1221/7740	407/2579	L	ctG/ctT		1		-1	EPG5	HGNC	HGNC:29331	protein_coding	YES	CCDS11926.2	ENSP00000282041	Q9HCE0		UPI00004F6F8A	NM_020964.2			3/44		Low_complexity_(Seg):seg,hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	37	45952431	45952431	C	A	1	0	0	0	0	0	0	0	1	5010	813	29	2		2	EPG5	18	45952431	Silent	SNP	C	C3N-00167_TP		45952431	34420854	35	9955											
ZNF208	0	.	GRCh38	chr19	21974048	21974048	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgaattgccttatgtgtaAtaagggttgagaccttactg	11	14	10	6	0	0	2	0	2	0	1	0	3	0	2	2	1	2	2	2	1	5	6	rs199858837		C3N-00167_TP	C3N-00167_NB	A	A																c.986T>C	p.Ile329Thr	p.I329T	ENST00000397126	4/4	74	66	8	104	103	1	varscan-mutect	ZNF208,missense_variant,p.Ile329Thr,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Ile329Thr,ENST00000609966,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	G	ENST00000397126	Transcript	missense_variant	1135/3992	986/3843	329/1280	I/T	aTt/aCt	rs199858837	1		-1	ZNF208	HGNC	HGNC:12999	protein_coding	YES	CCDS54240.1	ENSP00000380315	O43345		UPI0001B23C28	NM_007153.3	tolerated(1)		4/4		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		rs199858837	.												G	3	3	37	21974048	21974048	A	G	1	0	0	0	0	1	0	0	0	18343	101	4	5		5	ZNF208	19	21974048	Missense_Mutation	SNP	A	C3N-00167_TP		21974048	36643568	36	9956											
FOXA3	0	.	GRCh38	chr19	45872763	45872763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcacctccccgccccagcCcccgcctccagcccctgagc	5	4	7	25	2	1	1	1	1	0	0	3	1	3	1	11	0	3	0	11	0	0	0	novel		C3N-00167_TP	C3N-00167_NB	C	C																c.758C>T	p.Pro253Leu	p.P253L	ENST00000302177	2/2	98	83	15	108	108	0	strelka-varscan-mutect	FOXA3,missense_variant,p.Pro253Leu,ENST00000302177,NM_004497.2;FOXA3,downstream_gene_variant,,ENST00000594297,;	T	ENST00000302177	Transcript	missense_variant	955/1989	758/1053	253/350	P/L	cCc/cTc		1		1	FOXA3	HGNC	HGNC:5023	protein_coding	YES	CCDS12677.1	ENSP00000304004	P55318	A0A024R0R3	UPI0000000DF9	NM_004497.2	tolerated(0.31)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF201,hmmpanther:PTHR11829																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	37	45872763	45872763	C	T	1	0	0	0	0	1	0	0	0	5851	623	22	3		3	FOXA3	19	45872763	Missense_Mutation	SNP	C	C3N-00167_TP	23898715	45872763	12744853	37	9957											
BRSK1	0	.	GRCh38	chr19	55304776	55304776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgcctctgcacacgcccCgggccagtcccaccgggacc	6	4	10	21	4	1	0	0	0	1	0	3	1	2	1	7	2	1	1	7	2	0	0	rs771561869		C3N-00167_TP	C3N-00167_NB	C	C																c.1573C>T	p.Arg525Trp	p.R525W	ENST00000309383	14/19	101	85	16	110	110	0	strelka-varscan-mutect	BRSK1,missense_variant,p.Arg525Trp,ENST00000309383,NM_032430.1;BRSK1,missense_variant,p.Arg541Trp,ENST00000590333,;BRSK1,missense_variant,p.Arg220Trp,ENST00000326848,;BRSK1,downstream_gene_variant,,ENST00000585418,;BRSK1,downstream_gene_variant,,ENST00000591774,;BRSK1,non_coding_transcript_exon_variant,,ENST00000588584,;BRSK1,downstream_gene_variant,,ENST00000586626,;	T	ENST00000309383	Transcript	missense_variant	1850/3079	1573/2337	525/778	R/W	Cgg/Tgg	rs771561869,COSM228728	1		1	BRSK1	HGNC	HGNC:18994	protein_coding	YES	CCDS12921.1	ENSP00000310649	Q8TDC3		UPI0000070495	NM_032430.1	deleterious(0)		14/19		Low_complexity_(Seg):seg,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF130											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs771561869	.												T	3	4	37	55304776	55304776	C	T	1	0	0	0	0	1	0	0	0	1697	643	23	1		1	BRSK1	19	55304776	Missense_Mutation	SNP	C	C3N-00167_TP	9432013	55304776	3312840	38	9958											
OR4F5	0	.	GRCh38	chr1	69709	69709	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgtgttcttttgttcttCtaatcatctcatacactatc	7	20	4	10	0	5	0	2	0	4	0	7	0	5	0	0	0	1	2	0	0	3	8	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.619C>T	p.=	p.L207L	ENST00000335137	1/1	84	77	7	129	129	0	varscan-mutect	OR4F5,synonymous_variant,p.=,ENST00000335137,NM_001005484.1;	T	ENST00000335137	Transcript	synonymous_variant	619/918	619/918	207/305	L	Cta/Tta		1		1	OR4F5	HGNC	HGNC:14825	protein_coding	YES	CCDS30547.1	ENSP00000334393	Q8NH21		UPI0000041BC1	NM_001005484.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF179,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	38	69709	69709	C	T	1	0	0	0	0	0	0	0	1	11142	912	32	3		3	OR4F5	1	69709	Silent	SNP	C	C3N-00169_TP		69709	248886713	1	9959											
AADACL3	0	.	GRCh38	chr1	12716189	12716189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagcagcatgtgggacctgGccctgatcttcctcgcagca	8	8	12	13	1	1	1	0	1	1	0	3	3	2	2	3	2	3	4	3	2	1	1	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.13G>T	p.Ala5Ser	p.A5S	ENST00000359318	1/4	27	18	9	33	33	0	strelka-varscan-mutect	AADACL3,missense_variant,p.Ala5Ser,ENST00000359318,NM_001103170.2;AADACL3,non_coding_transcript_exon_variant,,ENST00000620146,;	T	ENST00000359318	Transcript	missense_variant	47/3662	13/1224	5/407	A/S	Gcc/Tcc		1		1	AADACL3	HGNC	HGNC:32037	protein_coding	YES	CCDS41253.2	ENSP00000352268	Q5VUY0		UPI0003EAEC70	NM_001103170.2	tolerated(0.4)		1/4		hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF115,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	3			1										PASS		rs1183485676	.												T	3	4	38	12716189	12716189	G	T	1	0	0	0	0	1	0	0	0	12	1203	42	2		2	AADACL3	1	12716189	Missense_Mutation	SNP	G	C3N-00169_TP	12646480	12716189	236240233	2	9960											
ARHGEF10L	0	.	GRCh38	chr1	17613131	17613131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcttggctttgagagttgGggggagagacatgcaggagc	9	9	17	6	0	1	2	0	1	1	2	1	6	1	4	0	5	2	3	0	5	0	3	rs144936441		C3N-00169_TP	C3N-00169_NB	G	G																c.683G>T	p.Gly228Val	p.G228V	ENST00000361221	8/29	141	115	26	191	190	1	strelka-varscan-mutect	ARHGEF10L,missense_variant,p.Gly228Val,ENST00000361221,NM_018125.3;ARHGEF10L,intron_variant,,ENST00000375415,NM_001319837.1,NM_001011722.2;ARHGEF10L,upstream_gene_variant,,ENST00000469726,;	T	ENST00000361221	Transcript	missense_variant	842/4488	683/3840	228/1279	G/V	gGg/gTg	rs144936441,COSM4143071,COSM4143072	1		1	ARHGEF10L	HGNC	HGNC:25540	protein_coding	YES	CCDS182.1	ENSP00000355060	Q9HCE6		UPI00004CA9C5	NM_018125.3	deleterious(0.03)		8/29		hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs144936441	.												T	3	4	38	17613131	17613131	G	T	1	0	0	0	0	1	0	0	0	1025	1232	43	2		2	ARHGEF10L	1	17613131	Missense_Mutation	SNP	G	C3N-00169_TP	4896942	17613131	231343291	3	9961											
GRIK3	0	.	GRCh38	chr1	36801891	36801891	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatgtgctgcaggccatgCtgtccttgccgggaagccgg	6	8	16	11	2	0	0	0	0	0	0	1	2	1	2	4	4	5	3	4	4	1	1	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.2720G>C	p.Ser907Thr	p.S907T	ENST00000373091	16/16	77	60	17	108	108	0	strelka-varscan-mutect	GRIK3,missense_variant,p.Ser907Thr,ENST00000373091,NM_000831.3;GRIK3,downstream_gene_variant,,ENST00000373093,;	G	ENST00000373091	Transcript	missense_variant	2737/9101	2720/2760	907/919	S/T	aGc/aCc		1		-1	GRIK3	HGNC	HGNC:4581	protein_coding	YES	CCDS416.1	ENSP00000362183	Q13003		UPI000013E311	NM_000831.3	tolerated_low_confidence(1)		16/16		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF174																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	38	36801891	36801891	C	G	1	0	0	0	0	1	0	0	0	6657	797	28	4		4	GRIK3	1	36801891	Missense_Mutation	SNP	C	C3N-00169_TP	19188760	36801891	212154531	4	9962											
LURAP1	0	.	GRCh38	chr1	46220096	46220097	+	Frame_Shift_Del	DEL	GG	GG	-																															agggagcttgagagctgtgtGgaagcccccaggggagaggc																								novel		C3N-00169_TP	C3N-00169_NB	GG	GG																c.596_597delGG	p.Trp199Ter	p.W199*	ENST00000371980	2/2	192	157	35	310	310	0	sindel-varindel-pindel	LURAP1,frameshift_variant,p.Trp199Ter,ENST00000371980,NM_001013615.2;POMGNT1,5_prime_UTR_variant,,ENST00000396420,;POMGNT1,5_prime_UTR_variant,,ENST00000371992,NM_001243766.1;	-	ENST00000371980	Transcript	frameshift_variant	689-690/1854	596-597/720	199/239	W/X	tGG/t		1		1	LURAP1	HGNC	HGNC:32327	protein_coding	YES	CCDS30703.1	ENSP00000361048	Q96LR2		UPI0000072C34	NM_001013615.2			2/2		hmmpanther:PTHR33767																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	38	46220096	46220096	GG	-	1	0	1	0	1	0	0	0	0	8993	1357	47	0		0	LURAP1	1	46220096	Frame_Shift_Del	DEL	GG	C3N-00169_TP	9418205	46220096	202736326	5	9963											
CLCA4	0	.	GRCh38	chr1	86579558	86579558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattattcttacatggacagCaccaggagataattttgatg	13	13	9	6	0	1	2	0	1	1	1	1	5	1	3	1	2	2	1	1	2	3	6	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.2327C>A	p.Ala776Glu	p.A776E	ENST00000370563	13/14	163	143	20	197	197	0	strelka-varscan-mutect	CLCA4,missense_variant,p.Ala776Glu,ENST00000370563,NM_012128.3;RP4-651E10.4,intron_variant,,ENST00000456587,;	A	ENST00000370563	Transcript	missense_variant	2369/3211	2327/2760	776/919	A/E	gCa/gAa		1		1	CLCA4	HGNC	HGNC:2018	protein_coding	YES	CCDS41355.1	ENSP00000359594	Q14CN2		UPI00000389E8	NM_012128.3	deleterious(0)		13/14		hmmpanther:PTHR10579:SF2,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868,Pfam_domain:PF08434																	MODERATE	1	SNV	1			1										PASS		rs1475241410	.												A	3	1	38	86579558	86579558	C	A	1	0	0	0	0	1	0	0	0	3223	710	25	2		2	CLCA4	1	86579558	Missense_Mutation	SNP	C	C3N-00169_TP	40359462	86579558	162376864	6	9964											
NTNG1	0	.	GRCh38	chr1	107324861	107324861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccgttggggaaatatttGtagatgagctacacttggca	11	11	12	7	1	0	2	0	1	0	1	0	3	0	3	1	3	3	4	1	3	4	6	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.826G>T	p.Val276Leu	p.V276L	ENST00000370068	3/8	85	66	19	106	106	0	strelka-varscan-mutect	NTNG1,missense_variant,p.Val276Leu,ENST00000370067,;NTNG1,missense_variant,p.Val276Leu,ENST00000370068,;NTNG1,missense_variant,p.Val276Leu,ENST00000370073,NM_001113226.1;NTNG1,missense_variant,p.Val276Leu,ENST00000370071,NM_001113228.1;NTNG1,missense_variant,p.Val276Leu,ENST00000370074,NM_014917.2;NTNG1,missense_variant,p.Val276Leu,ENST00000370065,;NTNG1,missense_variant,p.Val276Leu,ENST00000370066,;NTNG1,non_coding_transcript_exon_variant,,ENST00000477948,;NTNG1,non_coding_transcript_exon_variant,,ENST00000294649,;	T	ENST00000370068	Transcript	missense_variant	1672/4034	826/1620	276/539	V/L	Gta/Tta		1		1	NTNG1	HGNC	HGNC:23319	protein_coding	YES	CCDS44180.1	ENSP00000359085	Q9Y2I2		UPI0000458A3E		deleterious(0)		3/8		PROSITE_profiles:PS51117,hmmpanther:PTHR10574:SF28,hmmpanther:PTHR10574,Gene3D:2.60.120.260,Pfam_domain:PF00055,SMART_domains:SM00136																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	38	107324861	107324861	G	T	1	0	0	0	0	1	0	0	0	10769	1377	48	2		2	NTNG1	1	107324861	Missense_Mutation	SNP	G	C3N-00169_TP	20745303	107324861	141631561	7	9965											
NBPF10	0	.	GRCh38	chr1	146121650	146121650	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacttcaggccctttctcaTccagcagctccctgctgagc	7	10	8	16	0	2	2	2	1	1	1	5	2	4	2	3	1	4	3	3	1	0	2	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.2606A>C	p.Asp869Ala	p.D869A	ENST00000583866	20/90	42	37	5	36	36	0	varscan-mutect	NBPF10,missense_variant,p.Asp869Ala,ENST00000583866,NM_001039703.5,NM_001302371.1;NBPF10,5_prime_UTR_variant,,ENST00000617010,;NBPF10,intron_variant,,ENST00000610925,;NBPF10,intron_variant,,ENST00000622244,;NBPF10,intron_variant,,ENST00000613557,;NBPF10,intron_variant,,ENST00000616399,;NBPF10,intron_variant,,ENST00000613224,;RP11-458D21.5,3_prime_UTR_variant,,ENST00000612520,;	G	ENST00000583866	Transcript	missense_variant	2641/13042	2606/11388	869/3795	D/A	gAt/gCt		1		-1	NBPF10	HGNC	HGNC:31992	protein_coding	YES	CCDS76206.1	ENSP00000463957		A0A075B762	UPI00051EF319	NM_001039703.5,NM_001302371.1	tolerated(0.13)		20/90		Pfam_domain:PF06758,PROSITE_profiles:PS51316,SMART_domains:SM01148																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	38	146121650	146121650	T	G	1	0	0	0	0	1	0	0	0	10204	1435	50	5		5	NBPF10	1	146121650	Missense_Mutation	SNP	T	C3N-00169_TP	38796789	146121650	102834772	8	9966											
FLG	0	.	GRCh38	chr1	152307627	152307627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggactcagactgttcatgaGtgctcacctggtagaggaaa	11	9	12	9	1	3	3	3	1	0	2	3	5	3	5	1	3	1	3	1	3	2	2	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.7259C>A	p.Thr2420Asn	p.T2420N	ENST00000368799	3/3	888	574	314	538	537	1	strelka-varscan-mutect	FLG,missense_variant,p.Thr2420Asn,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368799	Transcript	missense_variant	7295/12747	7259/12186	2420/4061	T/N	aCt/aAt		1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	tolerated(0.06)		3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	152307627	152307627	G	T	1	0	0	0	0	1	0	0	0	5784	1029	36	2		2	FLG	1	152307627	Missense_Mutation	SNP	G	C3N-00169_TP	6185977	152307627	96648795	9	9967											
PGLYRP4	0	.	GRCh38	chr1	153341710	153341710	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacataactggatgacaggTggcccttctggacagcatag	12	8	12	9	0	1	1	0	1	1	0	1	4	1	3	1	4	3	1	1	4	3	3	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.542A>T	p.His181Leu	p.H181L	ENST00000359650	6/9	333	193	140	237	236	1	strelka-varscan-mutect	PGLYRP4,missense_variant,p.His177Leu,ENST00000368739,;PGLYRP4,missense_variant,p.His181Leu,ENST00000359650,NM_020393.3;PGLYRP4,downstream_gene_variant,,ENST00000490266,;	A	ENST00000359650	Transcript	missense_variant	607/1834	542/1122	181/373	H/L	cAc/cTc		1		-1	PGLYRP4	HGNC	HGNC:30015	protein_coding	YES	CCDS30871.1	ENSP00000352672	Q96LB8		UPI000013F78A	NM_020393.3	tolerated(0.12)		6/9		hmmpanther:PTHR11022:SF40,hmmpanther:PTHR11022,Gene3D:3.40.80.10,Pfam_domain:PF01510,SMART_domains:SM00701,SMART_domains:SM00644,Superfamily_domains:SSF55846																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	38	153341710	153341710	T	A	1	0	0	0	0	1	0	0	0	11885	1696	59	4		4	PGLYRP4	1	153341710	Missense_Mutation	SNP	T	C3N-00169_TP	1034083	153341710	95614712	10	9968											
TPM3	0	.	GRCh38	chr1	154191934	154191934	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctgcctgcttctgctCagcttcagcttgctctgccc	2	16	7	16	0	6	0	2	0	4	0	6	0	6	0	2	0	7	5	2	0	0	5	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.85G>T	p.Glu29Ter	p.E29*	ENST00000368530	1/10	961	563	398	697	697	0	strelka-varscan-mutect	TPM3,stop_gained,p.Glu29Ter,ENST00000368530,NM_152263.3;TPM3,stop_gained,p.Glu29Ter,ENST00000271850,;TPM3,stop_gained,p.Glu29Ter,ENST00000515609,;MIR190B,downstream_gene_variant,,ENST00000401119,;TPM3,non_coding_transcript_exon_variant,,ENST00000466010,;	A	ENST00000368530	Transcript	stop_gained	278/1523	85/858	29/285	E/*	Gag/Tag		1		-1	TPM3	HGNC	HGNC:12012	protein_coding	YES	CCDS41403.1	ENSP00000357516	P06753		UPI000013D90D	NM_152263.3			1/10		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19269:SF38,hmmpanther:PTHR19269,Gene3D:1.20.5.340,Superfamily_domains:SSF57997																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	38	154191934	154191934	C	A	1	0	0	0	0	0	1	0	0	16888	835	29	2		2	TPM3	1	154191934	Nonsense_Mutation	SNP	C	C3N-00169_TP	850224	154191934	94764488	11	9969											
APCS	0	.	GRCh38	chr1	159588456	159588456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaaagggtctgcgacaGggttactttgtagaagctca	12	10	13	6	1	2	2	1	1	1	1	2	3	2	2	0	2	3	3	0	2	5	3			C3N-00169_TP	C3N-00169_NB	G	G																c.420G>T	p.Gln140His	p.Q140H	ENST00000255040	2/2	347	256	91	273	272	1	strelka-varscan-mutect	APCS,missense_variant,p.Gln140His,ENST00000255040,NM_001639.3;	T	ENST00000255040	Transcript	missense_variant	517/926	420/672	140/223	Q/H	caG/caT	COSM1498977,COSM5580238	1		1	APCS	HGNC	HGNC:584	protein_coding	YES	CCDS1186.1	ENSP00000255040	P02743	V9HWP0	UPI0000135533	NM_001639.3	deleterious(0)		2/2		hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF99,Pfam_domain:PF00354,Gene3D:2.60.120.200,SMART_domains:SM00159,Superfamily_domains:SSF49899,Prints_domain:PR00895											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	38	159588456	159588456	G	T	1	0	0	0	0	1	0	0	0	887	991	35	2		2	APCS	1	159588456	Missense_Mutation	SNP	G	C3N-00169_TP	5396522	159588456	89367966	12	9970											
NHLH1	0	.	GRCh38	chr1	160370844	160370844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctgatggtgccgggcctgGgggtccgggagggggccagg	3	5	22	11	2	0	1	0	1	0	0	1	2	1	2	5	8	1	0	5	8	0	0	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.113G>T	p.Gly38Val	p.G38V	ENST00000302101	2/2	284	204	80	209	209	0	strelka-varscan-mutect	NHLH1,missense_variant,p.Gly38Val,ENST00000302101,NM_005598.3;	T	ENST00000302101	Transcript	missense_variant	559/2563	113/402	38/133	G/V	gGg/gTg		1		1	NHLH1	HGNC	HGNC:7817	protein_coding	YES	CCDS1204.1	ENSP00000302189	Q02575	Q5T203	UPI000012C5FE	NM_005598.3	tolerated(0.31)		2/2		hmmpanther:PTHR13864,hmmpanther:PTHR13864:SF20,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	160370844	160370844	G	T	1	0	0	0	0	1	0	0	0	10436	1232	43	2		2	NHLH1	1	160370844	Missense_Mutation	SNP	G	C3N-00169_TP	782388	160370844	88585578	13	9971											
CEP350	0	.	GRCh38	chr1	180037040	180037040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatgtagaaagagttagagGcatttcacttgctcagcagg	13	10	12	6	0	2	4	2	0	0	4	2	4	2	4	0	2	2	5	0	2	3	4	rs528631741		C3N-00169_TP	C3N-00169_NB	G	G																c.4061G>T	p.Gly1354Val	p.G1354V	ENST00000367607	17/38	168	151	17	154	153	1	strelka-varscan-mutect	CEP350,missense_variant,p.Gly1354Val,ENST00000367607,NM_014810.4;CEP350,upstream_gene_variant,,ENST00000418229,;CEP350,upstream_gene_variant,,ENST00000490047,;	T	ENST00000367607	Transcript	missense_variant	4479/13491	4061/9354	1354/3117	G/V	gGc/gTc	rs528631741	1		1	CEP350	HGNC	HGNC:24238	protein_coding	YES	CCDS1336.1	ENSP00000356579	Q5VT06		UPI000013CFC5	NM_014810.4	deleterious(0)		17/38		hmmpanther:PTHR13958:SF4,hmmpanther:PTHR13958																	MODERATE	1	SNV	1			1										PASS		rs528631741	.												T	3	4	38	180037040	180037040	G	T	1	0	0	0	0	1	0	0	0	2972	1203	42	2		2	CEP350	1	180037040	Missense_Mutation	SNP	G	C3N-00169_TP	19666196	180037040	68919382	14	9972											
XPR1	0	.	GRCh38	chr1	180863766	180863766	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggattgtcttttatatcatCagttcctgctataccctcat	8	18	5	10	0	4	0	3	0	1	0	5	1	5	1	2	1	2	2	2	1	4	7	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1560C>T	p.=	p.I520I	ENST00000367590	12/15	102	84	18	97	97	0	strelka-mutect	XPR1,synonymous_variant,p.=,ENST00000367590,NM_004736.3;XPR1,synonymous_variant,p.=,ENST00000367589,NM_001135669.1;XPR1,non_coding_transcript_exon_variant,,ENST00000464817,;XPR1,non_coding_transcript_exon_variant,,ENST00000498177,;	T	ENST00000367590	Transcript	synonymous_variant	1758/8474	1560/2091	520/696	I	atC/atT		1		1	XPR1	HGNC	HGNC:12827	protein_coding	YES	CCDS1340.1	ENSP00000356562	Q9UBH6	A0A024R911	UPI0000071111	NM_004736.3			12/15		Transmembrane_helices:TMhelix,PROSITE_profiles:PS51380,hmmpanther:PTHR10783,hmmpanther:PTHR10783:SF40,Pfam_domain:PF03124																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	38	180863766	180863766	C	T	1	0	0	0	0	0	0	0	1	18010	816	29	3		3	XPR1	1	180863766	Silent	SNP	C	C3N-00169_TP	826726	180863766	68092656	15	9973											
COLGALT2	0	.	GRCh38	chr1	183969454	183969454	+	Frame_Shift_Del	DEL	G	G	-																															ctcgaatctgaacgtagtctGgggtcctcttatagaagccc																								novel		C3N-00169_TP	C3N-00169_NB	G	G																c.647delC	p.Pro216GlnfsTer25	p.P216Qfs*25	ENST00000361927	5/12	94	67	27	85	85	0	sindel-varindel-pindel	COLGALT2,frameshift_variant,p.Pro216GlnfsTer25,ENST00000361927,NM_001303420.1,NM_015101.3,NM_001303421.1;COLGALT2,upstream_gene_variant,,ENST00000367520,;	-	ENST00000361927	Transcript	frameshift_variant	1019/5177	647/1881	216/626	P/X	cCa/ca		1		-1	COLGALT2	HGNC	HGNC:16790	protein_coding	YES	CCDS1360.1	ENSP00000354960	Q8IYK4		UPI000007423A	NM_001303420.1,NM_015101.3,NM_001303421.1			5/12		hmmpanther:PTHR10730,Superfamily_domains:SSF53448																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	38	183969454	183969454	G	-	1	0	1	0	1	0	0	0	0	3504	1348	47	0		0	COLGALT2	1	183969454	Frame_Shift_Del	DEL	G	C3N-00169_TP	3105688	183969454	64986968	16	9974											
ASPM	0	.	GRCh38	chr1	197101411	197101411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgtttttttatgttcatgtCctgaaaacctgcctgaacac	9	16	6	10	0	1	2	1	2	0	0	2	2	2	2	3	0	3	2	3	0	4	5	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.7840G>C	p.Asp2614His	p.D2614H	ENST00000367409	18/28	495	371	124	343	343	0	strelka-varscan-mutect	ASPM,missense_variant,p.Asp2614His,ENST00000367409,NM_018136.4;ASPM,missense_variant,p.Asp600His,ENST00000612785,;ASPM,intron_variant,,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000367408,;	G	ENST00000367409	Transcript	missense_variant	8097/10887	7840/10434	2614/3477	D/H	Gac/Cac		1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4	tolerated(0.1)		18/28																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	38	197101411	197101411	C	G	1	0	0	0	0	1	0	0	0	1203	855	30	4		4	ASPM	1	197101411	Missense_Mutation	SNP	C	C3N-00169_TP	13131957	197101411	51855011	17	9975											
KIF21B	0	.	GRCh38	chr1	201002211	201002211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcatgagctgggtgacgCggttgttgatggcatcgatg	6	11	17	7	3	1	3	1	3	0	0	2	4	1	3	0	4	1	5	0	4	0	2			C3N-00169_TP	C3N-00169_NB	C	C																c.1352G>T	p.Arg451Leu	p.R451L	ENST00000422435	9/35	227	196	31	222	222	0	strelka-varscan-mutect	KIF21B,missense_variant,p.Arg451Leu,ENST00000332129,NM_017596.3;KIF21B,missense_variant,p.Arg451Leu,ENST00000422435,NM_001252100.1;KIF21B,missense_variant,p.Arg451Leu,ENST00000461742,NM_001252102.1;KIF21B,missense_variant,p.Arg451Leu,ENST00000360529,NM_001252103.1;KIF21B,non_coding_transcript_exon_variant,,ENST00000534043,;	A	ENST00000422435	Transcript	missense_variant	1669/5519	1352/4914	451/1637	R/L	cGc/cTc	COSM5004691,COSM5004692	1		-1	KIF21B	HGNC	HGNC:29442	protein_coding	YES	CCDS58056.1	ENSP00000411831	O75037		UPI0000153E7C	NM_001252100.1	deleterious(0)		9/35		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs953396132	.												A	3	1	38	201002211	201002211	C	A	1	0	0	0	0	1	0	0	0	8154	768	27	1		1	KIF21B	1	201002211	Missense_Mutation	SNP	C	C3N-00169_TP	3900800	201002211	47954211	18	9976											
PKP1	0	.	GRCh38	chr1	201316676	201316676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccagcatacctgcttccaGgatgaatctgccaagcaaca	13	8	7	13	0	1	1	0	1	1	0	3	2	3	2	4	1	6	3	4	1	4	2	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.825G>T	p.Gln275His	p.Q275H	ENST00000263946	4/15	304	216	88	302	302	0	strelka-varscan-mutect	PKP1,missense_variant,p.Gln275His,ENST00000263946,NM_000299.3;PKP1,missense_variant,p.Gln275His,ENST00000367324,NM_001005337.2;PKP1,missense_variant,p.Gln275His,ENST00000352845,;PKP1,non_coding_transcript_exon_variant,,ENST00000475988,;	T	ENST00000263946	Transcript	missense_variant	1076/5447	825/2244	275/747	Q/H	caG/caT		1		1	PKP1	HGNC	HGNC:9023	protein_coding	YES	CCDS30966.1	ENSP00000263946	Q13835		UPI0000131B86	NM_000299.3	tolerated(0.08)		4/15		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF3,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		rs1228086490	.												T	3	4	38	201316676	201316676	G	T	1	0	0	0	0	1	0	0	0	12080	991	35	2		2	PKP1	1	201316676	Missense_Mutation	SNP	G	C3N-00169_TP	314465	201316676	47639746	19	9977											
LRRN2	0	.	GRCh38	chr1	204618022	204618022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcctcccacccacaccCttcctgggttggcctgtgcc	3	8	10	20	1	0	0	0	0	0	0	2	0	2	0	8	3	1	1	8	3	0	2	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1971G>T	p.Lys657Asn	p.K657N	ENST00000367175	1/1	116	78	38	117	117	0	strelka-varscan-mutect	LRRN2,missense_variant,p.Lys657Asn,ENST00000367175,;LRRN2,missense_variant,p.Lys657Asn,ENST00000367177,NM_201630.1;LRRN2,missense_variant,p.Lys657Asn,ENST00000367176,NM_006338.2;RP11-430C7.4,downstream_gene_variant,,ENST00000453895,;LRRN2,downstream_gene_variant,,ENST00000496057,;	A	ENST00000367175	Transcript	missense_variant	4184/5036	1971/2142	657/713	K/N	aaG/aaT		1		-1	LRRN2	HGNC	HGNC:16914	protein_coding	YES	CCDS1448.1	ENSP00000356143	O75325	A0A024R993	UPI000013E8AC		tolerated(0.32)		1/1																			MODERATE		SNV				1										PASS		rs1449245562	.												A	3	1	38	204618022	204618022	C	A	1	0	0	0	0	1	0	0	0	8941	680	24	2		2	LRRN2	1	204618022	Missense_Mutation	SNP	C	C3N-00169_TP	3301346	204618022	44338400	20	9978											
RYR2	0	.	GRCh38	chr1	237674763	237674763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggaactggacacgccttCtattgagaaacgatttgcct	10	11	9	11	2	1	1	0	1	1	1	1	5	1	3	3	2	3	0	3	2	3	4	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.8747C>T	p.Ser2916Phe	p.S2916F	ENST00000366574	60/105	162	139	23	127	127	0	strelka-varscan	RYR2,missense_variant,p.Ser2916Phe,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Ser2900Phe,ENST00000360064,;RYR2,upstream_gene_variant,,ENST00000609119,;	T	ENST00000366574	Transcript	missense_variant	9064/16562	8747/14904	2916/4967	S/F	tCt/tTt		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		60/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	237674763	237674763	C	T	1	0	0	0	0	1	0	0	0	14029	913	32	3		3	RYR2	1	237674763	Missense_Mutation	SNP	C	C3N-00169_TP	33056741	237674763	11281659	21	9979											
ZP4	0	.	GRCh38	chr1	237888384	237888384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatagtagcaggaattcAcctcttcagagctataacaa	14	11	6	10	0	3	1	2	0	1	1	4	2	4	2	2	1	3	3	2	1	6	7	novel		C3N-00169_TP	C3N-00169_NB	A	A																c.527T>C	p.Val176Ala	p.V176A	ENST00000611898	4/13	100	72	28	104	104	0	strelka-varscan	ZP4,missense_variant,p.Val176Ala,ENST00000611898,NM_021186.3;ZP4,missense_variant,p.Val176Ala,ENST00000366570,;RP11-193H5.1,intron_variant,,ENST00000450451,;	G	ENST00000611898	Transcript	missense_variant	814/2474	527/1623	176/540	V/A	gTg/gCg		1		-1	ZP4	HGNC	HGNC:15770	protein_coding	YES	CCDS1615.1	ENSP00000482304	Q12836		UPI000006F0E4	NM_021186.3	tolerated(0.32)		4/13		Gene3D:4.10.110.10,Pfam_domain:PF00088,PROSITE_profiles:PS51448,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,SMART_domains:SM00018,Superfamily_domains:SSF57492																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	38	237888384	237888384	A	G	1	0	0	0	0	1	0	0	0	18810	159	6	5		5	ZP4	1	237888384	Missense_Mutation	SNP	A	C3N-00169_TP	213621	237888384	11068038	22	9980											
ZNF695	0	.	GRCh38	chr1	246987519	246987519	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtatgacaacaatttaaaGactttgccacattcttcaca	15	12	5	9	0	2	2	1	1	1	1	2	2	2	2	1	1	2	1	1	1	5	6	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.996C>T	p.=	p.V332V	ENST00000339986	4/4	55	44	11	38	38	0	strelka-varscan	ZNF695,synonymous_variant,p.=,ENST00000339986,NM_020394.4;ZNF695,intron_variant,,ENST00000487338,NM_001204221.1;ZNF695,intron_variant,,ENST00000498046,;ZNF670-ZNF695,intron_variant,,ENST00000474541,;ZNF670-ZNF695,intron_variant,,ENST00000465049,;ZNF695,intron_variant,,ENST00000479214,;ZNF695,intron_variant,,ENST00000366504,;ZNF695,intron_variant,,ENST00000491337,;	A	ENST00000339986	Transcript	synonymous_variant	1144/3340	996/1548	332/515	V	gtC/gtT		1		-1	ZNF695	HGNC	HGNC:30954	protein_coding	YES	CCDS44344.1	ENSP00000341236	Q8IW36		UPI0000F734A8	NM_020394.4			4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF119,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	38	246987519	246987519	G	A	1	0	0	0	0	0	0	0	1	18671	929	33	3		3	ZNF695	1	246987519	Silent	SNP	G	C3N-00169_TP	9099135	246987519	1968903	23	9981											
OR2T33	0	.	GRCh38	chr1	248273213	248273213	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaggagcattaacacaCagcagatgtacatggcgttt	13	8	11	9	1	0	1	0	0	0	1	0	3	0	3	1	3	4	4	1	3	2	3			C3N-00169_TP	C3N-00169_NB	C	C																c.602G>T	p.Cys201Phe	p.C201F	ENST00000318021	1/1	166	141	25	167	167	0	strelka-varscan	OR2T33,missense_variant,p.Cys201Phe,ENST00000318021,NM_001004695.1;	A	ENST00000318021	Transcript	missense_variant	602/963	602/963	201/320	C/F	tGt/tTt	COSM5665580	1		-1	OR2T33	HGNC	HGNC:31255	protein_coding	YES	CCDS31109.1	ENSP00000324687	Q8NG76		UPI000004B237	NM_001004695.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	38	248273213	248273213	C	A	1	0	0	0	0	1	0	0	0	11101	478	17	2		2	OR2T33	1	248273213	Missense_Mutation	SNP	C	C3N-00169_TP	1285694	248273213	683209	24	9982											
DCDC2C	0	.	GRCh38	chr2	3769373	3769373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggggcgctggacgtcaaaGaggagcacaatgtgcagctg	12	5	16	8	2	1	1	1	0	0	1	1	3	1	3	0	4	3	4	0	4	3	0	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.916G>A	p.Glu306Lys	p.E306K	ENST00000399143	8/11	138	118	20	184	184	0	strelka-varscan-mutect	DCDC2C,missense_variant,p.Glu306Lys,ENST00000399143,NM_001287444.1;DCDC2C,missense_variant,p.Glu269Lys,ENST00000423741,;DCDC2C,non_coding_transcript_exon_variant,,ENST00000537457,;	A	ENST00000399143	Transcript	missense_variant	1076/1480	916/1095	306/364	E/K	Gag/Aag		1		1	DCDC2C	HGNC	HGNC:32696	protein_coding	YES	CCDS74481.1	ENSP00000382097	A8MYV0		UPI0002742D44	NM_001287444.1	deleterious(0)		8/11		hmmpanther:PTHR23004:SF9,hmmpanther:PTHR23004																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	38	3769373	3769373	G	A	1	0	0	0	0	1	0	0	0	4089	943	33	3		3	DCDC2C	2	3769373	Missense_Mutation	SNP	G	C3N-00169_TP		3769373	238424156	25	9983											
KIDINS220	0	.	GRCh38	chr2	8818751	8818751	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taattccttcactatttccaGattgccttgttcggcagcta	8	16	6	11	1	1	1	1	0	0	1	4	1	3	1	3	1	2	3	3	1	3	9	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.151C>G	p.Leu51Val	p.L51V	ENST00000256707	3/30	156	140	16	181	181	0	strelka-varscan-mutect	KIDINS220,missense_variant,p.Leu51Val,ENST00000256707,NM_020738.2;KIDINS220,missense_variant,p.Leu51Val,ENST00000473731,;KIDINS220,missense_variant,p.Leu51Val,ENST00000489024,;KIDINS220,missense_variant,p.Leu51Val,ENST00000319688,;KIDINS220,3_prime_UTR_variant,,ENST00000488729,;	C	ENST00000256707	Transcript	missense_variant	333/7361	151/5316	51/1771	L/V	Ctg/Gtg		1		-1	KIDINS220	HGNC	HGNC:29508	protein_coding	YES	CCDS42650.1	ENSP00000256707	Q9ULH0		UPI0000208E08	NM_020738.2	tolerated(0.1)		3/30		Gene3D:1.25.40.20,Pfam_domain:PF12796,Prints_domain:PR01415,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24116,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs1424027142	.												C	3	2	38	8818751	8818751	G	C	1	0	0	0	0	1	0	0	0	8135	933	33	4		4	KIDINS220	2	8818751	Missense_Mutation	SNP	G	C3N-00169_TP	5049378	8818751	233374778	26	9984											
HS1BP3	0	.	GRCh38	chr2	20640857	20640857	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacctgcctcaccagcctGgctgaagcctccaggctgca	7	6	10	18	0	1	1	1	1	0	0	2	1	2	1	7	2	4	3	7	2	1	0	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.522C>T	p.=	p.A174A	ENST00000406618	3/3	30	25	5	23	23	0	strelka-varscan-mutect	HS1BP3,synonymous_variant,p.=,ENST00000406618,;HS1BP3,intron_variant,,ENST00000402541,;HS1BP3,intron_variant,,ENST00000304031,NM_022460.3;HS1BP3,intron_variant,,ENST00000446825,;HS1BP3,upstream_gene_variant,,ENST00000458740,;HS1BP3,downstream_gene_variant,,ENST00000631166,;	A	ENST00000406618	Transcript	synonymous_variant	543/1375	522/600	174/199	A	gcC/gcT		1		-1	HS1BP3	HGNC	HGNC:24979	protein_coding			ENSP00000385788		B5MC96	UPI0000D4A420				3/3																			LOW		SNV	2			1										PASS		.	.												A	2	1	38	20640857	20640857	G	A	1	0	0	0	0	0	0	0	1	7255	1335	47	3		3	HS1BP3	2	20640857	Silent	SNP	G	C3N-00169_TP	11822106	20640857	221552672	27	9985											
THADA	0	.	GRCh38	chr2	43505736	43505736	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcagatgccaacagtgcCtatggaaaaagaatgcaaaa	17	7	10	7	0	1	2	1	0	0	2	1	3	1	3	2	2	4	2	2	2	7	2	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.3508-1G>A		p.X1170_splice	ENST00000405006		91	71	20	88	88	0	strelka-varscan	THADA,splice_acceptor_variant,,ENST00000405006,NM_001083953.1;THADA,splice_acceptor_variant,,ENST00000405975,NM_022065.4;THADA,splice_acceptor_variant,,ENST00000407351,;THADA,splice_acceptor_variant,,ENST00000436947,;THADA,splice_acceptor_variant,,ENST00000462185,;THADA,splice_acceptor_variant,,ENST00000398653,;THADA,splice_acceptor_variant,,ENST00000408045,;THADA,splice_acceptor_variant,,ENST00000402796,;	T	ENST00000405006	Transcript	splice_acceptor_variant	-/6310	3508/5862	1170/1953				1		-1	THADA	HGNC	HGNC:19217	protein_coding	YES	CCDS46268.1	ENSP00000385995	Q6YHU6		UPI00001C0473	NM_001083953.1				23/37																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	38	43505736	43505736	C	T	1	0	0	0	0	0	0	1	0	16272	695	24	3		3	THADA	2	43505736	Splice_Site	SNP	C	C3N-00169_TP	22864879	43505736	198687793	28	9986											
AMER3	0	.	GRCh38	chr2	130762336	130762336	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagccaccttcaaaccGgtgcgaaagtgcaagactca	12	7	11	11	2	2	1	2	0	0	1	2	3	2	2	3	2	4	1	3	2	3	1	rs771546193		C3N-00169_TP	C3N-00169_NB	G	G																c.264G>T	p.=	p.P88P	ENST00000423981	2/2	64	49	15	110	110	0	strelka-varscan-mutect	AMER3,synonymous_variant,p.=,ENST00000423981,NM_001105193.1,NM_001105195.1,NM_001105194.1;AMER3,synonymous_variant,p.=,ENST00000321420,NM_152698.2;AMER3,synonymous_variant,p.=,ENST00000458606,;AMER3,synonymous_variant,p.=,ENST00000431758,;	T	ENST00000423981	Transcript	synonymous_variant	374/6172	264/2586	88/861	P	ccG/ccT	rs771546193	1		1	AMER3	HGNC	HGNC:26771	protein_coding	YES	CCDS2164.1	ENSP00000392700	Q8N944		UPI0000D61239	NM_001105193.1,NM_001105195.1,NM_001105194.1			2/2		hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2																	LOW	1	SNV	4			1										PASS		rs771546193	.												T	2	4	38	130762336	130762336	G	T	1	0	0	0	0	0	0	0	1	669	1103	39	1		1	AMER3	2	130762336	Silent	SNP	G	C3N-00169_TP	87256600	130762336	111431193	29	9987											
THSD7B	0	.	GRCh38	chr2	137618461	137618461	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacccgcctgctaagctGtgtgtgcagtgatggcaagc	8	8	14	11	1	0	1	0	1	0	0	0	2	0	2	2	2	4	4	2	2	2	1	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.3641G>C	p.Cys1214Ser	p.C1214S	ENST00000272643	18/27	250	206	44	234	234	0	strelka-varscan-mutect	THSD7B,missense_variant,p.Cys1212Ser,ENST00000409968,NM_001316349.1;THSD7B,missense_variant,p.Cys1214Ser,ENST00000272643,;THSD7B,missense_variant,p.Cys1183Ser,ENST00000413152,NM_001080427.1;	C	ENST00000272643	Transcript	missense_variant	3641/5939	3641/4827	1214/1608	C/S	tGt/tCt		1		1	THSD7B	HGNC	HGNC:29348	protein_coding	YES		ENSP00000272643	Q9C0I4		UPI0004E4C87A		deleterious(0)		18/27		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7,SMART_domains:SM00209																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	38	137618461	137618461	G	C	1	0	0	0	0	1	0	0	0	16314	1377	48	4		4	THSD7B	2	137618461	Missense_Mutation	SNP	G	C3N-00169_TP	6856125	137618461	104575068	30	9988											
SLC4A10	0	.	GRCh38	chr2	161862939	161862939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtacgccatagggtccatGaggcattgatgaaacagcat	13	9	11	8	1	0	3	0	3	0	0	1	3	1	3	2	2	3	3	2	2	3	3	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.643G>A	p.Glu215Lys	p.E215K	ENST00000446997	6/27	129	98	31	106	106	0	strelka-varscan-mutect	SLC4A10,missense_variant,p.Glu226Lys,ENST00000375514,NM_001178016.1;SLC4A10,missense_variant,p.Glu215Lys,ENST00000415876,NM_022058.3;SLC4A10,missense_variant,p.Glu215Lys,ENST00000446997,NM_001178015.1;SLC4A10,missense_variant,p.Glu215Lys,ENST00000272716,;SLC4A10,missense_variant,p.Glu215Lys,ENST00000421911,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000493021,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000461456,;SLC4A10,missense_variant,p.Glu215Lys,ENST00000446228,;	A	ENST00000446997	Transcript	missense_variant	736/5551	643/3357	215/1118	E/K	Gag/Aag		1		1	SLC4A10	HGNC	HGNC:13811	protein_coding	YES	CCDS54411.1	ENSP00000393066	Q6U841		UPI00001D4707	NM_001178015.1	deleterious(0.05)		6/27		hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,Gene3D:1hynR00,TIGRFAM_domain:TIGR00834,Pfam_domain:PF07565,Superfamily_domains:SSF55804																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	38	161862939	161862939	G	A	1	0	0	0	0	1	0	0	0	14928	1291	45	3		3	SLC4A10	2	161862939	Missense_Mutation	SNP	G	C3N-00169_TP	24244478	161862939	80330590	31	9989											
XIRP2	0	.	GRCh38	chr2	167242944	167242945	+	Frame_Shift_Ins	INS	-	-	T																															aaacttagaaaaagattataINStcagtgaagtttctgagatt																								novel		C3N-00169_TP	C3N-00169_NB	-	-																c.1553dupT	p.Ser519GlnfsTer2	p.S519Qfs*2	ENST00000409195	9/11	108	84	24	136	136	0	sindel-varindel	XIRP2,frameshift_variant,p.Ser519GlnfsTer2,ENST00000409195,NM_152381.5;XIRP2,frameshift_variant,p.Ser297GlnfsTer2,ENST00000409273,NM_001199144.1;XIRP2,frameshift_variant,p.Ser344GlnfsTer2,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	T	ENST00000409195	Transcript	frameshift_variant	1641-1642/12675	1552-1553/10650	518/3549	I/IX	atc/aTtc		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5			9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	HIGH	1	insertion	5	1		1										PASS		.	.												T	7	5	38	167242944	167242944	-	T	1	0	1	1	0	0	0	0	0	17989	449	16	0		0	XIRP2	2	167242944	Frame_Shift_Ins	INS	-	C3N-00169_TP	5380005	167242944	74950585	32	9990	228	2									
XIRP2	0	.	GRCh38	chr2	167242948	167242948	+	Missense_Mutation	SNP	G	G	A																															cttagaaaaagattatatcaGtgaagtttctgagattgttt																										C3N-00169_TP	C3N-00169_NB	G	G																c.1556G>A	p.Ser519Asn	p.S519N	ENST00000409195	9/11	131	102	29	150	150	0	strelka-varscan-mutect	XIRP2,missense_variant,p.Ser519Asn,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Ser297Asn,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Ser344Asn,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	A	ENST00000409195	Transcript	missense_variant	1645/12675	1556/10650	519/3549	S/N	aGt/aAt	COSM3569431	1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	tolerated(0.22)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	38	167242948	167242948	G	A	1	0	0	0	0	1	0	0	0	17989	1029	36	3		3	XIRP2	2	167242948	Missense_Mutation	SNP	G	C3N-00169_TP	4	167242948	74950581	33	9991	228	2									
SSB	0	.	GRCh38	chr2	169811025	169811025	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaccaacaagaatccctAaacaaatggaagtcaaaagg	21	4	8	8	0	1	2	1	0	0	2	2	4	2	3	2	2	2	0	2	2	10	1	rs779625970		C3N-00169_TP	C3N-00169_NB	A	A																c.978A>T	p.=	p.L326L	ENST00000409333	10/12	138	109	29	102	102	0	strelka-varscan-mutect	SSB,synonymous_variant,p.=,ENST00000409333,NM_001294145.1;SSB,synonymous_variant,p.=,ENST00000260956,NM_003142.4;METTL5,intron_variant,,ENST00000409837,;SSB,downstream_gene_variant,,ENST00000422006,;METTL5,downstream_gene_variant,,ENST00000410097,;METTL5,downstream_gene_variant,,ENST00000260953,NM_014168.3;METTL5,downstream_gene_variant,,ENST00000409965,NM_001293186.1;METTL5,downstream_gene_variant,,ENST00000392640,NM_001293187.1;METTL5,downstream_gene_variant,,ENST00000308099,;SSB,downstream_gene_variant,,ENST00000417292,;METTL5,downstream_gene_variant,,ENST00000409340,;METTL5,downstream_gene_variant,,ENST00000442181,;METTL5,downstream_gene_variant,,ENST00000538491,;SSB,non_coding_transcript_exon_variant,,ENST00000490914,;METTL5,downstream_gene_variant,,ENST00000484351,;SSB,downstream_gene_variant,,ENST00000474273,;SSB,downstream_gene_variant,,ENST00000413002,;METTL5,downstream_gene_variant,,ENST00000537825,;SSB,downstream_gene_variant,,ENST00000470621,;SSB,downstream_gene_variant,,ENST00000465871,;SSB,downstream_gene_variant,,ENST00000494051,;SSB,downstream_gene_variant,,ENST00000468600,;	T	ENST00000409333	Transcript	synonymous_variant	1225/1782	978/1227	326/408	L	ctA/ctT	rs779625970	1		1	SSB	HGNC	HGNC:11316	protein_coding	YES	CCDS2237.1	ENSP00000386636	P05455		UPI000012E243	NM_001294145.1			10/12		Gene3D:3.30.70.330,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF08777,hmmpanther:PTHR22792,Superfamily_domains:SSF54928																	LOW	1	SNV	1			1										PASS		rs779625970	.												T	2	4	38	169811025	169811025	A	T	1	0	0	0	0	0	0	0	1	15552	349	13	4		4	SSB	2	169811025	Silent	SNP	A	C3N-00169_TP	2568077	169811025	72382504	34	9992											
SP5	0	.	GRCh38	chr2	170716550	170716550	+	Frame_Shift_Del	DEL	C	C	-																															cgcacgagcttccccttacaCcccccgccgacccctcgtac																								rs770676571		C3N-00169_TP	C3N-00169_NB	C	C																c.348delC	p.Ala117ProfsTer197	p.A117Pfs*197	ENST00000375281	2/2	151	131	20	212	212	0	sindel-varindel	SP5,frameshift_variant,p.Ala117ProfsTer197,ENST00000375281,NM_001003845.2;LINC01124,upstream_gene_variant,,ENST00000409786,;SP5,downstream_gene_variant,,ENST00000487037,;	-	ENST00000375281	Transcript	frameshift_variant	505/2033	343/1197	115/398	P/X	Ccc/cc	rs770676571,COSM5513936	1		1	SP5	HGNC	HGNC:14529	protein_coding	YES	CCDS33322.1	ENSP00000364430	Q6BEB4		UPI000015C8D6	NM_001003845.2			2/2													0,1						HIGH	1	deletion	1	5	0,1	1										PASS		.	.												-	7	5	38	170716550	170716550	C	-	1	0	1	0	1	0	0	0	0	15293	507	18	0		0	SP5	2	170716550	Frame_Shift_Del	DEL	C	C3N-00169_TP	905525	170716550	71476979	35	9993	229	2									
SP5	0	.	GRCh38	chr2	170716556	170716556	+	Missense_Mutation	SNP	G	G	T																															agcttccccttacaccccccGccgacccctcgtacccctac																								novel		C3N-00169_TP	C3N-00169_NB	G	G																c.349G>T	p.Ala117Ser	p.A117S	ENST00000375281	2/2	171	148	23	215	215	0	strelka-varscan-mutect	SP5,missense_variant,p.Ala117Ser,ENST00000375281,NM_001003845.2;LINC01124,upstream_gene_variant,,ENST00000409786,;SP5,downstream_gene_variant,,ENST00000487037,;	T	ENST00000375281	Transcript	missense_variant	511/2033	349/1197	117/398	A/S	Gcc/Tcc		1		1	SP5	HGNC	HGNC:14529	protein_coding	YES	CCDS33322.1	ENSP00000364430	Q6BEB4		UPI000015C8D6	NM_001003845.2	deleterious(0.01)		2/2																			MODERATE	1	SNV	1			1										PASS		rs898280844	.												T	3	4	38	170716556	170716556	G	T	1	0	0	0	0	1	0	0	0	15293	1087	38	1		1	SP5	2	170716556	Missense_Mutation	SNP	G	C3N-00169_TP	6	170716556	71476973	36	9994	229	2									
TTN	0	.	GRCh38	chr2	178563003	178563004	+	Frame_Shift_Ins	INS	-	-	C																															gagaatgccttctgccttttINScccatttaacttcgggttct																								novel		C3N-00169_TP	C3N-00169_NB	-	-																c.83128dupG	p.Glu27710GlyfsTer9	p.E27710Gfs*9	ENST00000589042	326/363	179	135	44	176	176	0	sindel-varindel-pindel	TTN,frameshift_variant,p.Glu27710GlyfsTer9,ENST00000589042,NM_001267550.2;TTN,frameshift_variant,p.Glu26069GlyfsTer9,ENST00000591111,;TTN,frameshift_variant,p.Glu26069GlyfsTer9,ENST00000615779,NM_001256850.1;TTN,frameshift_variant,p.Glu25142GlyfsTer9,ENST00000342992,NM_133378.4;TTN,frameshift_variant,p.Glu18645GlyfsTer9,ENST00000460472,NM_003319.4;TTN,frameshift_variant,p.Glu18837GlyfsTer9,ENST00000342175,NM_133437.4;TTN,frameshift_variant,p.Glu18770GlyfsTer9,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.3,downstream_gene_variant,,ENST00000624360,;	C	ENST00000589042	Transcript	frameshift_variant	83353-83354/109224	83128-83129/107976	27710/35991	E/GX	gaa/gGaa		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			326/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH		insertion	5			1										PASS		.	.												C	7	5	38	178563003	178563003	-	C	1	0	1	1	0	0	0	0	0	17245	1783	62	0		0	TTN	2	178563003	Frame_Shift_Ins	INS	-	C3N-00169_TP	7846447	178563003	63630526	37	9995											
CERKL	0	.	GRCh38	chr2	181558633	181558654	+	Frame_Shift_Del	DEL	AGCATTCTTCTGAGCTCTCAGA	AGCATTCTTCTGAGCTCTCAGA	-																															attcggtctgtttccatcccAgcattcttctgagctctcag																								novel		C3N-00169_TP	C3N-00169_NB	AGCATTCTTCTGAGCTCTCAGA	AGCATTCTTCTGAGCTCTCAGA																c.810_831delTCTGAGAGCTCAGAAGAATGCT	p.Leu271GlyfsTer8	p.L271Gfs*8	ENST00000339098	6/14	408	346	62	467	467	0	sindel-pindel	CERKL,frameshift_variant,p.Leu245GlyfsTer8,ENST00000410087,NM_201548.4;CERKL,frameshift_variant,p.Leu227GlyfsTer8,ENST00000409440,NM_001160277.1;CERKL,frameshift_variant,p.Leu271GlyfsTer8,ENST00000339098,NM_001030311.2;CERKL,intron_variant,,ENST00000374970,NM_001030313.2;CERKL,intron_variant,,ENST00000374969,NM_001030312.2;CERKL,non_coding_transcript_exon_variant,,ENST00000479558,;CERKL,non_coding_transcript_exon_variant,,ENST00000466715,;CERKL,3_prime_UTR_variant,,ENST00000374967,;CERKL,3_prime_UTR_variant,,ENST00000452174,;CERKL,3_prime_UTR_variant,,ENST00000421817,;CERKL,non_coding_transcript_exon_variant,,ENST00000494398,;	-	ENST00000339098	Transcript	frameshift_variant	810-831/1677	810-831/1677	270-277/558	LLRAQKNA/X	ctTCTGAGAGCTCAGAAGAATGCT/ct		1		-1	CERKL	HGNC	HGNC:21699	protein_coding	YES	CCDS42789.1	ENSP00000341159	Q49MI3		UPI000057259A	NM_001030311.2			6/14		PROSITE_profiles:PS50146,hmmpanther:PTHR12358:SF26,hmmpanther:PTHR12358,Pfam_domain:PF00781,Superfamily_domains:SSF111331																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	38	181558633	181558633	AGCATTCTTCTGAGCTCTCAGA	-	1	0	1	0	1	0	0	0	0	2994	175	7	0		0	CERKL	2	181558633	Frame_Shift_Del	DEL	AGCATTCTTCTGAGCTCTCAGA	C3N-00169_TP	2995630	181558633	60634896	38	9996											
FSIP2	0	.	GRCh38	chr2	185803540	185803540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgatttccaaattcatcCagatcttatagcaaatctgc	12	16	4	9	0	3	2	1	1	2	1	5	2	5	2	2	0	2	1	2	0	4	6	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.14501C>A	p.Pro4834Gln	p.P4834Q	ENST00000343098	17/23	81	67	14	64	64	0	strelka-varscan-mutect	FSIP2,missense_variant,p.Pro4834Gln,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Pro4745Gln,ENST00000424728,;FSIP2,upstream_gene_variant,,ENST00000611759,;FSIP2-AS1,upstream_gene_variant,,ENST00000436557,;FSIP2-AS1,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;	A	ENST00000343098	Transcript	missense_variant	14501/21054	14501/20991	4834/6996	P/Q	cCa/cAa		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	deleterious(0)		17/23		Pfam_domain:PF15783,hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	38	185803540	185803540	C	A	1	0	0	0	0	1	0	0	0	5949	594	21	2		2	FSIP2	2	185803540	Missense_Mutation	SNP	C	C3N-00169_TP	4244907	185803540	56389989	39	9997											
GBX2	0	.	GRCh38	chr2	236167764	236167764	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggcagcgctggctgcaGcgcggcctggggcagcgcgg	3	3	22	13	6	0	0	0	0	0	0	0	0	0	0	1	7	4	5	1	7	0	0	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.208C>G	p.Leu70Val	p.L70V	ENST00000306318	1/2	69	53	16	79	79	0	strelka-varscan-mutect	GBX2,missense_variant,p.Leu70Val,ENST00000306318,NM_001485.3;GBX2,missense_variant,p.Leu70Val,ENST00000551105,NM_001301687.1;AC079135.1,intron_variant,,ENST00000483218,;AC079135.1,intron_variant,,ENST00000415226,;GBX2,upstream_gene_variant,,ENST00000465889,;	C	ENST00000306318	Transcript	missense_variant	606/2123	208/1047	70/348	L/V	Ctg/Gtg		1		-1	GBX2	HGNC	HGNC:4186	protein_coding	YES	CCDS2515.1	ENSP00000302251	P52951		UPI000012B273	NM_001485.3	tolerated(0.17)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24334,hmmpanther:PTHR24334:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	38	236167764	236167764	G	C	1	0	0	0	0	1	0	0	0	6151	962	34	4		4	GBX2	2	236167764	Missense_Mutation	SNP	G	C3N-00169_TP	50364224	236167764	6025765	40	9998											
TRAF3IP1	0	.	GRCh38	chr2	238356065	238356065	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaattgcagcagtcaccCaaacctggggagaaggtaat	15	6	12	8	0	1	2	1	0	0	2	1	4	1	2	2	3	3	3	2	3	4	2	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1674C>G	p.=	p.P558P	ENST00000373327	15/17	197	157	40	180	180	0	strelka-varscan-mutect	TRAF3IP1,synonymous_variant,p.=,ENST00000373327,NM_015650.3;TRAF3IP1,synonymous_variant,p.=,ENST00000391993,NM_001139490.1;TRAF3IP1,non_coding_transcript_exon_variant,,ENST00000462122,;	G	ENST00000373327	Transcript	synonymous_variant	1896/4279	1674/2076	558/691	P	ccC/ccG		1		1	TRAF3IP1	HGNC	HGNC:17861	protein_coding	YES	CCDS33415.1	ENSP00000362424	Q8TDR0		UPI0000070E5D	NM_015650.3			15/17		Pfam_domain:PF10243,hmmpanther:PTHR31363,hmmpanther:PTHR31363:SF0																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	38	238356065	238356065	C	G	1	0	0	0	0	0	0	0	1	16923	581	21	4		4	TRAF3IP1	2	238356065	Silent	SNP	C	C3N-00169_TP	2188301	238356065	3837464	41	9999											
CROCC2	0	.	GRCh38	chr2	240963676	240963676	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcccaggaggcccgcCgggcgctgagtgacgaggcc	6	2	20	13	4	0	2	0	2	0	0	0	5	0	4	4	6	0	1	4	6	0	0	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.3214C>A	p.=	p.R1072R	ENST00000443866	21/32	337	273	64	382	382	0	strelka-varscan-mutect	CROCC2,synonymous_variant,p.=,ENST00000443866,;AC104809.4,non_coding_transcript_exon_variant,,ENST00000418218,;AC104809.4,upstream_gene_variant,,ENST00000457369,;AC104809.4,upstream_gene_variant,,ENST00000438506,;	A	ENST00000443866	Transcript	synonymous_variant	3398/5382	3214/4968	1072/1655	R	Cgg/Agg		1		1	CROCC2	HGNC	HGNC:51677	protein_coding	YES		ENSP00000397968	H7BZ55		UPI0004F2364A				21/32		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159:SF16,hmmpanther:PTHR23159																	LOW		SNV	5			1										PASS		rs939804732	.												A	2	1	38	240963676	240963676	C	A	1	0	0	0	0	0	0	0	1	3695	643	23	1		1	CROCC2	2	240963676	Silent	SNP	C	C3N-00169_TP	2607611	240963676	1229853	42	10000											
THAP4	0	.	GRCh38	chr2	241601943	241601943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcctggcgatggagtGggatgcgatgcacagctcct	8	8	16	9	2	0	1	0	0	0	1	2	6	2	3	2	4	3	2	2	4	0	0	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.1567C>T	p.His523Tyr	p.H523Y	ENST00000407315	5/6	171	138	33	232	232	0	strelka-varscan-mutect	THAP4,missense_variant,p.His523Tyr,ENST00000407315,NM_015963.5;THAP4,missense_variant,p.His111Tyr,ENST00000402545,;THAP4,missense_variant,p.His111Tyr,ENST00000402136,NM_001164356.1;THAP4,intron_variant,,ENST00000612200,;THAP4,non_coding_transcript_exon_variant,,ENST00000497486,;THAP4,non_coding_transcript_exon_variant,,ENST00000321679,;	A	ENST00000407315	Transcript	missense_variant	1999/2367	1567/1734	523/577	H/Y	Cac/Tac		1		-1	THAP4	HGNC	HGNC:23187	protein_coding	YES	CCDS2551.1	ENSP00000385006	Q8WY91		UPI000018DBC4	NM_015963.5	deleterious(0.01)		5/6		hmmpanther:PTHR15854,hmmpanther:PTHR15854:SF4,Pfam_domain:PF08768,Superfamily_domains:SSF50814																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	38	241601943	241601943	G	A	1	0	0	0	0	1	0	0	0	16279	1348	47	3		3	THAP4	2	241601943	Missense_Mutation	SNP	G	C3N-00169_TP	638267	241601943	591586	43	10001											
AMIGO3	0	.	GRCh38	chr3	49718578	49718578	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtgttgcagtaaagcctCagggaccgacccaccagcgc	9	6	12	14	2	1	0	1	0	0	0	1	2	1	1	4	2	3	3	4	2	2	2			C3N-00169_TP	C3N-00169_NB	C	C																c.888G>A	p.=	p.L296L	ENST00000320431	1/1	320	277	43	404	404	0	strelka-varscan-mutect	AMIGO3,synonymous_variant,p.=,ENST00000320431,NM_198722.2;GMPPB,3_prime_UTR_variant,,ENST00000480687,;RNF123,intron_variant,,ENST00000327697,NM_022064.3;RNF123,intron_variant,,ENST00000433785,;GMPPB,downstream_gene_variant,,ENST00000308375,NM_013334.3;GMPPB,downstream_gene_variant,,ENST00000308388,NM_021971.2;RNF123,non_coding_transcript_exon_variant,,ENST00000497099,;RNF123,intron_variant,,ENST00000487805,;RNF123,intron_variant,,ENST00000486102,;RNF123,intron_variant,,ENST00000457726,;GMPPB,downstream_gene_variant,,ENST00000481959,;RNF123,downstream_gene_variant,,ENST00000469978,;RNF123,upstream_gene_variant,,ENST00000498376,;GMPPB,downstream_gene_variant,,ENST00000495627,;RNF123,downstream_gene_variant,,ENST00000444689,;	T	ENST00000320431	Transcript	synonymous_variant	1118/2862	888/1515	296/504	L	ctG/ctA	COSM1309281	1		-1	AMIGO3	HGNC	HGNC:24075	protein_coding	YES	CCDS33759.1	ENSP00000323096	Q86WK7		UPI00000622D6	NM_198722.2			1/1		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR24368,hmmpanther:PTHR24368:SF62,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						LOW		SNV			1	1										PASS		rs1466765082	.												T	2	4	38	49718578	49718578	C	T	1	0	0	0	0	0	0	0	1	675	813	29	3		3	AMIGO3	3	49718578	Silent	SNP	C	C3N-00169_TP		49718578	148576981	44	10002											
RBM15B	0	.	GRCh38	chr3	51392714	51392714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggctctggcccgagagtttGaccgctttgggagcattcgg	5	10	15	11	4	1	2	0	1	1	1	2	4	1	3	2	4	1	4	2	4	0	3	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.1315G>A	p.Asp439Asn	p.D439N	ENST00000563281	1/1	137	127	10	187	187	0	strelka-varscan-mutect	RBM15B,missense_variant,p.Asp439Asn,ENST00000563281,NM_013286.4;DCAF1,downstream_gene_variant,,ENST00000504652,NM_001171904.1;DCAF1,downstream_gene_variant,,ENST00000423656,NM_014703.2;MANF,downstream_gene_variant,,ENST00000528157,NM_006010.5;MANF,downstream_gene_variant,,ENST00000470900,;MANF,downstream_gene_variant,,ENST00000446668,;MANF,downstream_gene_variant,,ENST00000482262,;	A	ENST00000563281	Transcript	missense_variant	1447/6641	1315/2673	439/890	D/N	Gac/Aac		1		1	RBM15B	HGNC	HGNC:24303	protein_coding	YES	CCDS33764.1	ENSP00000454545	Q8NDT2		UPI0000160BDE	NM_013286.4	deleterious(0)		1/1		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF40,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE		SNV				1										PASS		.	.												A	3	1	38	51392714	51392714	G	A	1	0	0	0	0	1	0	0	0	13283	1290	45	3		3	RBM15B	3	51392714	Missense_Mutation	SNP	G	C3N-00169_TP	1674136	51392714	146902845	45	10003											
ADCY5	0	.	GRCh38	chr3	123447749	123447749	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaggtagggcagctggAgcgggggccgcgccgcgtgg	4	3	22	12	6	0	0	0	0	0	0	0	1	0	1	3	7	2	3	3	7	1	1	novel		C3N-00169_TP	C3N-00169_NB	A	A																c.797T>A	p.Leu266His	p.L266H	ENST00000462833	1/21	109	85	24	102	102	0	strelka-varscan-mutect	ADCY5,missense_variant,p.Leu266His,ENST00000462833,NM_183357.2;	T	ENST00000462833	Transcript	missense_variant	2010/7311	797/3786	266/1261	L/H	cTc/cAc		1		-1	ADCY5	HGNC	HGNC:236	protein_coding	YES	CCDS3022.1	ENSP00000419361	O95622		UPI000015E262	NM_183357.2	tolerated(0.54)		1/21		Pfam_domain:PF16214,PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF332																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	123447749	123447749	A	T	1	0	0	0	0	1	0	0	0	341	304	11	4		4	ADCY5	3	123447749	Missense_Mutation	SNP	A	C3N-00169_TP	72055035	123447749	74847810	46	10004											
TPRA1	0	.	GRCh38	chr3	127580058	127580058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtagagcagcagcaggCagcgatgaggcacactgatg	11	6	14	10	2	0	3	0	2	0	1	1	4	0	3	0	2	4	6	0	2	1	2	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.89G>A	p.Cys30Tyr	p.C30Y	ENST00000355552	2/11	237	198	39	261	261	0	strelka-varscan-mutect	TPRA1,missense_variant,p.Cys30Tyr,ENST00000355552,NM_001136053.2;TPRA1,missense_variant,p.Cys30Tyr,ENST00000489960,;TPRA1,missense_variant,p.Cys30Tyr,ENST00000450633,;TPRA1,missense_variant,p.Cys30Tyr,ENST00000296210,NM_001142646.2;TPRA1,missense_variant,p.Cys30Tyr,ENST00000469111,;TPRA1,missense_variant,p.Cys30Tyr,ENST00000490290,;TPRA1,missense_variant,p.Cys30Tyr,ENST00000490643,;TPRA1,missense_variant,p.Cys30Tyr,ENST00000462228,;MIR6825,upstream_gene_variant,,ENST00000618505,;TPRA1,upstream_gene_variant,,ENST00000465915,;TPRA1,missense_variant,p.Cys30Tyr,ENST00000393400,;TPRA1,missense_variant,p.Cys30Tyr,ENST00000483868,;	T	ENST00000355552	Transcript	missense_variant	466/1933	89/1122	30/373	C/Y	tGc/tAc		1		-1	TPRA1	HGNC	HGNC:30413	protein_coding	YES	CCDS3042.1	ENSP00000347748	Q86W33		UPI00000373F2	NM_001136053.2	deleterious(0)		2/11		hmmpanther:PTHR15876,hmmpanther:PTHR15876:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	127580058	127580058	C	T	1	0	0	0	0	1	0	0	0	16898	710	25	3		3	TPRA1	3	127580058	Missense_Mutation	SNP	C	C3N-00169_TP	4132309	127580058	70715501	47	10005											
XRN1	0	.	GRCh38	chr3	142405053	142405053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagggagtggttacatgtCtccatggcttccaataatcg	9	13	11	8	1	1	1	0	1	1	0	4	2	2	2	2	3	1	2	2	3	3	4	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1737G>T	p.Glu579Asp	p.E579D	ENST00000264951	16/42	182	144	38	150	150	0	strelka-varscan-mutect	XRN1,missense_variant,p.Glu579Asp,ENST00000264951,NM_019001.4;XRN1,missense_variant,p.Glu45Asp,ENST00000498077,;XRN1,missense_variant,p.Glu579Asp,ENST00000392981,NM_001282857.1;RNU6-1294P,downstream_gene_variant,,ENST00000515995,;XRN1,non_coding_transcript_exon_variant,,ENST00000472697,;	A	ENST00000264951	Transcript	missense_variant	1855/10143	1737/5121	579/1706	E/D	gaG/gaT		1		-1	XRN1	HGNC	HGNC:30654	protein_coding	YES	CCDS3123.1	ENSP00000264951	Q8IZH2		UPI0000074113	NM_019001.4	tolerated(0.06)		16/42		hmmpanther:PTHR12341:SF7,hmmpanther:PTHR12341																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	38	142405053	142405053	C	A	1	0	0	0	0	1	0	0	0	18017	912	32	2		2	XRN1	3	142405053	Missense_Mutation	SNP	C	C3N-00169_TP	14824995	142405053	55890506	48	10006											
P2RY13	0	.	GRCh38	chr3	151328194	151328194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgattttgcagtctacagtCagtcttattgttggtttgac	7	19	9	6	0	3	2	1	2	2	0	3	2	3	2	0	1	2	3	0	1	2	8			C3N-00169_TP	C3N-00169_NB	C	C																c.862G>T	p.Asp288Tyr	p.D288Y	ENST00000325602	2/2	113	84	29	86	86	0	strelka-varscan-mutect	P2RY13,missense_variant,p.Asp288Tyr,ENST00000325602,NM_176894.2;MED12L,intron_variant,,ENST00000474524,NM_053002.5;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000491549,;MED12L,intron_variant,,ENST00000468305,;	A	ENST00000325602	Transcript	missense_variant	882/2764	862/1065	288/354	D/Y	Gac/Tac	COSM1484733,COSM1484734	1		-1	P2RY13	HGNC	HGNC:4537	protein_coding	YES	CCDS3158.2	ENSP00000320376	Q9BPV8		UPI000020A470	NM_176894.2	deleterious(0)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF10,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	38	151328194	151328194	C	A	1	0	0	0	0	1	0	0	0	11423	826	29	2		2	P2RY13	3	151328194	Missense_Mutation	SNP	C	C3N-00169_TP	8923141	151328194	46967365	49	10007											
IGSF10	0	.	GRCh38	chr3	151448612	151448612	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcttggtaaagtgatttGagcatcactggagtactgga	10	13	12	6	0	2	2	1	2	1	0	2	4	2	4	0	3	3	4	0	3	3	4	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.1369C>T	p.Gln457Ter	p.Q457*	ENST00000282466	4/6	264	218	46	260	260	0	strelka-varscan-mutect	IGSF10,stop_gained,p.Gln457Ter,ENST00000282466,NM_178822.4;	A	ENST00000282466	Transcript	stop_gained	1369/11067	1369/7872	457/2623	Q/*	Caa/Taa		1		-1	IGSF10	HGNC	HGNC:26384	protein_coding	YES	CCDS3160.1	ENSP00000282466	Q6WRI0		UPI00001D629A	NM_178822.4			4/6		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	38	151448612	151448612	G	A	1	0	0	0	0	0	1	0	0	7504	1299	45	3		3	IGSF10	3	151448612	Nonsense_Mutation	SNP	G	C3N-00169_TP	120418	151448612	46846947	50	10008											
IQCJ	0	.	GRCh38	chr3	159265269	159265269	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctcttggaggttgcagTcacctggggacaagttgcct	8	11	12	10	0	2	0	1	0	1	0	3	2	2	2	2	4	2	3	2	4	1	3	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.346T>C	p.Ser116Pro	p.S116P	ENST00000451172	5/5	157	126	31	166	166	0	strelka-varscan-mutect	IQCJ,missense_variant,p.Ser89Pro,ENST00000482126,NM_001197100.1;IQCJ,missense_variant,p.Ser116Pro,ENST00000451172,NM_001042705.2;IQCJ-SCHIP1,intron_variant,,ENST00000485419,NM_001197113.1;IQCJ-SCHIP1,intron_variant,,ENST00000476809,NM_001197114.1;IQCJ,downstream_gene_variant,,ENST00000397832,NM_001042706.2;IQCJ,downstream_gene_variant,,ENST00000481796,;	C	ENST00000451172	Transcript	missense_variant	451/885	346/480	116/159	S/P	Tca/Cca		1		1	IQCJ	HGNC	HGNC:32406	protein_coding	YES	CCDS46946.1	ENSP00000402153	Q1A5X6		UPI0000D7E3A6	NM_001042705.2	tolerated_low_confidence(0.08)		5/5		Pfam_domain:PF15157,hmmpanther:PTHR35976																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	38	159265269	159265269	T	C	1	0	0	0	0	1	0	0	0	7718	1667	58	5		5	IQCJ	3	159265269	Missense_Mutation	SNP	T	C3N-00169_TP	7816657	159265269	39030290	51	10009											
ZBBX	0	.	GRCh38	chr3	167305774	167305774	+	Missense_Mutation	SNP	A	A	T																															ttctaaatctctacctagcaAagtgtccttgctttcaagtg																								rs771690201		C3N-00169_TP	C3N-00169_NB	A	A																c.1594T>A	p.Leu532Met	p.L532M	ENST00000455345	16/21	168	154	14	120	120	0	strelka-varscan-mutect	ZBBX,missense_variant,p.Leu532Met,ENST00000392766,NM_024687.3;ZBBX,missense_variant,p.Leu532Met,ENST00000455345,NM_001199201.1;ZBBX,missense_variant,p.Leu532Met,ENST00000307529,;ZBBX,missense_variant,p.Leu503Met,ENST00000392767,;ZBBX,missense_variant,p.Leu503Met,ENST00000392764,NM_001199202.1;	T	ENST00000455345	Transcript	missense_variant	1878/3185	1594/2520	532/839	L/M	Ttg/Atg	rs771690201	1		-1	ZBBX	HGNC	HGNC:26245	protein_coding	YES	CCDS56296.1	ENSP00000390232	A8MT70		UPI000020A746	NM_001199201.1	deleterious(0)		16/21		hmmpanther:PTHR28634																	MODERATE	1	SNV	1			1										PASS		rs771690201	.												T	3	4	38	167305774	167305774	A	T	1	0	0	0	0	1	0	0	0	18078	11	1	4		4	ZBBX	3	167305774	Missense_Mutation	SNP	A	C3N-00169_TP	8040505	167305774	30989785	52	10010	230	2									
ZBBX	0	.	GRCh38	chr3	167305776	167305776	+	Missense_Mutation	SNP	G	G	T																															ctaaatctctacctagcaaaGtgtccttgctttcaagtgat																								novel		C3N-00169_TP	C3N-00169_NB	G	G																c.1592C>A	p.Thr531Asn	p.T531N	ENST00000455345	16/21	169	156	13	115	115	0	strelka-varscan-mutect	ZBBX,missense_variant,p.Thr531Asn,ENST00000392766,NM_024687.3;ZBBX,missense_variant,p.Thr531Asn,ENST00000455345,NM_001199201.1;ZBBX,missense_variant,p.Thr531Asn,ENST00000307529,;ZBBX,missense_variant,p.Thr502Asn,ENST00000392767,;ZBBX,missense_variant,p.Thr502Asn,ENST00000392764,NM_001199202.1;	T	ENST00000455345	Transcript	missense_variant	1876/3185	1592/2520	531/839	T/N	aCt/aAt		1		-1	ZBBX	HGNC	HGNC:26245	protein_coding	YES	CCDS56296.1	ENSP00000390232	A8MT70		UPI000020A746	NM_001199201.1	tolerated(0.13)		16/21		hmmpanther:PTHR28634																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	167305776	167305776	G	T	1	0	0	0	0	1	0	0	0	18078	1029	36	2		2	ZBBX	3	167305776	Missense_Mutation	SNP	G	C3N-00169_TP	2	167305776	30989783	53	10011	230	2									
CCDC39	0	.	GRCh38	chr3	180648342	180648342	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaccttttatgaggttCagttgaacatctacttcctg	10	14	7	10	0	2	2	1	2	1	0	3	2	3	2	2	1	3	3	2	1	3	6			C3N-00169_TP	C3N-00169_NB	C	C																c.1185G>T	p.=	p.L395L	ENST00000442201	10/20	41	32	9	16	16	0	strelka-varscan-mutect	CCDC39,synonymous_variant,p.=,ENST00000442201,NM_181426.1;CCDC39,synonymous_variant,p.=,ENST00000476379,;	A	ENST00000442201	Transcript	synonymous_variant	1305/3279	1185/2826	395/941	L	ctG/ctT	COSM582773,COSM582774	1		-1	CCDC39	HGNC	HGNC:25244	protein_coding	YES	CCDS46964.1	ENSP00000405708	Q9UFE4		UPI00015D7298	NM_181426.1			10/20		Low_complexity_(Seg):seg,hmmpanther:PTHR18962,hmmpanther:PTHR18962:SF0											1,1						LOW	1	SNV	2		1,1	1										PASS		.	.												A	2	1	38	180648342	180648342	C	A	1	0	0	0	0	0	0	0	1	2520	813	29	2		2	CCDC39	3	180648342	Silent	SNP	C	C3N-00169_TP	13342566	180648342	17647217	54	10012											
ABCC5	0	.	GRCh38	chr3	183971790	183971790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttttcattttgggggtcaGcttgggcgagttctggatac	5	17	13	6	1	3	0	2	0	1	0	3	2	3	1	0	4	2	2	0	4	1	8	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.1534C>A	p.Leu512Met	p.L512M	ENST00000334444	11/30	362	325	37	390	390	0	strelka-varscan	ABCC5,missense_variant,p.Leu512Met,ENST00000334444,NM_005688.2;ABCC5,missense_variant,p.Leu512Met,ENST00000265586,;ABCC5,3_prime_UTR_variant,,ENST00000437205,NM_001320032.1;ABCC5,non_coding_transcript_exon_variant,,ENST00000476402,;	T	ENST00000334444	Transcript	missense_variant	1775/5921	1534/4314	512/1437	L/M	Ctg/Atg		1		-1	ABCC5	HGNC	HGNC:56	protein_coding	YES	CCDS43176.1	ENSP00000333926	O15440		UPI000004A33C	NM_005688.2	tolerated(0.11)		11/30																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	183971790	183971790	G	T	1	0	0	0	0	1	0	0	0	60	962	34	2		2	ABCC5	3	183971790	Missense_Mutation	SNP	G	C3N-00169_TP	3323448	183971790	14323769	55	10013											
MASP1	0	.	GRCh38	chr3	187262549	187262549	+	Missense_Mutation	SNP	C	C	A																															cttctccaacttacccacagCcatgtagtgggcatcaaagc																								novel		C3N-00169_TP	C3N-00169_NB	C	C																c.409G>T	p.Ala137Ser	p.A137S	ENST00000296280	3/11	440	359	81	479	479	0	strelka-varscan	MASP1,missense_variant,p.Ala137Ser,ENST00000337774,NM_001879.5;MASP1,missense_variant,p.Ala137Ser,ENST00000296280,NM_139125.3;MASP1,missense_variant,p.Ala24Ser,ENST00000392472,;MASP1,missense_variant,p.Ala137Ser,ENST00000169293,NM_001031849.2;MASP1,missense_variant,p.Ala111Ser,ENST00000392470,;MASP1,missense_variant,p.Ala144Ser,ENST00000392475,;MASP1,downstream_gene_variant,,ENST00000425937,;MASP1,downstream_gene_variant,,ENST00000439271,;MASP1,non_coding_transcript_exon_variant,,ENST00000490558,;MASP1,non_coding_transcript_exon_variant,,ENST00000465015,;MASP1,intron_variant,,ENST00000495249,;MASP1,non_coding_transcript_exon_variant,,ENST00000460839,;	A	ENST00000296280	Transcript	missense_variant	635/4015	409/2187	137/728	A/S	Gct/Tct		1		-1	MASP1	HGNC	HGNC:6901	protein_coding	YES	CCDS33908.1	ENSP00000296280	P48740		UPI000007256E	NM_139125.3	deleterious(0)		3/11		Gene3D:2.60.120.290,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS01180,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,SMART_domains:SM00042,Superfamily_domains:SSF49854,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	38	187262549	187262549	C	A	1	0	0	0	0	1	0	0	0	9248	739	26	2		2	MASP1	3	187262549	Missense_Mutation	SNP	C	C3N-00169_TP	3290759	187262549	11033010	56	10014	231	2									
MASP1	0	.	GRCh38	chr3	187262550	187262550	+	Missense_Mutation	SNP	C	C	A																															ttctccaacttacccacagcCatgtagtgggcatcaaagcc																										C3N-00169_TP	C3N-00169_NB	C	C																c.408G>T	p.Met136Ile	p.M136I	ENST00000296280	3/11	443	363	80	481	480	1	strelka-varscan	MASP1,missense_variant,p.Met136Ile,ENST00000337774,NM_001879.5;MASP1,missense_variant,p.Met136Ile,ENST00000296280,NM_139125.3;MASP1,missense_variant,p.Met23Ile,ENST00000392472,;MASP1,missense_variant,p.Met136Ile,ENST00000169293,NM_001031849.2;MASP1,missense_variant,p.Met110Ile,ENST00000392470,;MASP1,missense_variant,p.Met143Ile,ENST00000392475,;MASP1,downstream_gene_variant,,ENST00000425937,;MASP1,downstream_gene_variant,,ENST00000439271,;MASP1,non_coding_transcript_exon_variant,,ENST00000490558,;MASP1,non_coding_transcript_exon_variant,,ENST00000465015,;MASP1,intron_variant,,ENST00000495249,;MASP1,non_coding_transcript_exon_variant,,ENST00000460839,;	A	ENST00000296280	Transcript	missense_variant	634/4015	408/2187	136/728	M/I	atG/atT	COSM209186,COSM209187,COSM5122338	1		-1	MASP1	HGNC	HGNC:6901	protein_coding	YES	CCDS33908.1	ENSP00000296280	P48740		UPI000007256E	NM_139125.3	deleterious(0.04)		3/11		Gene3D:2.60.120.290,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS01180,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,SMART_domains:SM00042,Superfamily_domains:SSF49854,Superfamily_domains:SSF57196											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	38	187262550	187262550	C	A	1	0	0	0	0	1	0	0	0	9248	594	21	2		2	MASP1	3	187262550	Missense_Mutation	SNP	C	C3N-00169_TP	1	187262550	11033009	57	10015	231	2									
TNIP2	0	.	GRCh38	chr4	2744858	2744858	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggctcgtgggggatctGcagccccctgagctgcgcat	4	8	15	14	3	1	1	0	1	1	0	3	2	1	2	2	3	4	4	2	3	0	0	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.745C>T	p.Gln249Ter	p.Q249*	ENST00000315423	4/6	187	152	35	186	186	0	strelka-varscan-mutect	TNIP2,stop_gained,p.Gln142Ter,ENST00000510267,NM_001161527.1;TNIP2,stop_gained,p.Gln249Ter,ENST00000315423,NM_024309.3;TNIP2,intron_variant,,ENST00000503235,NM_001292016.1;TNIP2,non_coding_transcript_exon_variant,,ENST00000505186,;TNIP2,non_coding_transcript_exon_variant,,ENST00000502256,;TNIP2,downstream_gene_variant,,ENST00000511352,;TNIP2,downstream_gene_variant,,ENST00000507686,;	A	ENST00000315423	Transcript	stop_gained	832/1974	745/1290	249/429	Q/*	Cag/Tag		1		-1	TNIP2	HGNC	HGNC:19118	protein_coding	YES	CCDS3362.1	ENSP00000321203	Q8NFZ5		UPI00000702D2	NM_024309.3			4/6		hmmpanther:PTHR31882																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	38	2744858	2744858	G	A	1	0	0	0	0	0	1	0	0	16788	1328	46	3		3	TNIP2	4	2744858	Nonsense_Mutation	SNP	G	C3N-00169_TP		2744858	187469697	58	10016											
PCDH7	0	.	GRCh38	chr4	30722589	30722589	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcacggtcatggcccgcgaCcgcgggcagccccccaagac	7	4	12	18	5	2	1	2	0	0	1	2	2	2	1	5	3	1	1	5	3	1	1	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1167C>G	p.Asp389Glu	p.D389E	ENST00000543491	1/1	248	197	51	257	257	0	strelka-varscan-mutect	PCDH7,missense_variant,p.Asp79Glu,ENST00000511884,NM_032457.3,NM_001173523.1;PCDH7,missense_variant,p.Asp389Glu,ENST00000361762,NM_002589.2;PCDH7,missense_variant,p.Asp389Glu,ENST00000543491,NM_032456.2;PCDH7,upstream_gene_variant,,ENST00000621961,;PCDH7,upstream_gene_variant,,ENST00000509759,;PCDH7,upstream_gene_variant,,ENST00000507864,;	G	ENST00000543491	Transcript	missense_variant	1737/4457	1167/3219	389/1072	D/E	gaC/gaG		1		1	PCDH7	HGNC	HGNC:8659	protein_coding	YES	CCDS75116.1	ENSP00000441802	O60245		UPI00001615DB	NM_032456.2	deleterious(0)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF321,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	38	30722589	30722589	C	G	1	0	0	0	0	1	0	0	0	11603	506	18	4		4	PCDH7	4	30722589	Missense_Mutation	SNP	C	C3N-00169_TP	27977731	30722589	159491966	59	10017											
GABRA2	0	.	GRCh38	chr4	46250379	46250379	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactaaattaaaggtaccaaAcaaaactggaaaaactattc	22	8	4	7	0	0	0	0	0	0	0	1	1	0	1	1	2	5	1	1	2	12	5	novel		C3N-00169_TP	C3N-00169_NB	A	A																c.1285T>A	p.Phe429Ile	p.F429I	ENST00000510861	10/10	174	137	37	168	168	0	strelka-varscan-mutect	GABRA2,missense_variant,p.Phe429Ile,ENST00000510861,;GABRA2,missense_variant,p.Phe429Ile,ENST00000514090,;GABRA2,missense_variant,p.Phe429Ile,ENST00000356504,NM_001114175.1;GABRA2,missense_variant,p.Phe405Ile,ENST00000540012,NM_001286827.1;GABRA2,missense_variant,p.Phe429Ile,ENST00000381620,NM_000807.2;GABRA2,missense_variant,p.Phe489Ile,ENST00000507069,;GABRA2,3_prime_UTR_variant,,ENST00000630416,;GABRA2,3_prime_UTR_variant,,ENST00000510233,;GABRA2,3_prime_UTR_variant,,ENST00000513005,;	T	ENST00000510861	Transcript	missense_variant	1459/3411	1285/1356	429/451	F/I	Ttt/Att		1		-1	GABRA2	HGNC	HGNC:4076	protein_coding	YES	CCDS3471.1	ENSP00000421828	P47869	A0A024R9X6	UPI000013DC88		deleterious(0)		10/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF218,Gene3D:1.20.58.390,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR00253																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	38	46250379	46250379	A	T	1	0	0	0	0	1	0	0	0	6032	43	2	4		4	GABRA2	4	46250379	Missense_Mutation	SNP	A	C3N-00169_TP	15527790	46250379	143964176	60	10018											
FRYL	0	.	GRCh38	chr4	48623175	48623175	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagagatctggacaatagcTtctcctatgattaaaaaaaa	18	10	7	6	0	2	2	0	1	2	1	3	5	2	3	1	1	1	1	1	1	8	4	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.125A>C	p.Lys42Thr	p.K42T	ENST00000358350	5/64	85	65	20	62	62	0	strelka-varscan-mutect	FRYL,missense_variant,p.Lys42Thr,ENST00000358350,NM_015030.1;FRYL,missense_variant,p.Lys42Thr,ENST00000503238,;FRYL,missense_variant,p.Lys42Thr,ENST00000507711,;FRYL,missense_variant,p.Lys134Thr,ENST00000505759,;FRYL,non_coding_transcript_exon_variant,,ENST00000302806,;	G	ENST00000358350	Transcript	missense_variant	730/11706	125/9042	42/3013	K/T	aAg/aCg		1		-1	FRYL	HGNC	HGNC:29127	protein_coding	YES	CCDS43227.1	ENSP00000351113	O94915		UPI0000EBC149	NM_015030.1	deleterious(0)		5/64		hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF9																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	38	48623175	48623175	T	G	1	0	0	0	0	1	0	0	0	5936	1623	56	5		5	FRYL	4	48623175	Missense_Mutation	SNP	T	C3N-00169_TP	2372796	48623175	141591380	61	10019											
KIAA1211	0	.	GRCh38	chr4	56314655	56314655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgcaggggccgcccgagGcgttggaggagactggggag	7	4	22	8	3	0	1	0	0	0	1	0	5	0	3	2	8	1	2	2	8	0	1	rs78564111		C3N-00169_TP	C3N-00169_NB	G	G																c.1153G>A	p.Ala385Thr	p.A385T	ENST00000504228	6/9	65	59	6	62	62	0	strelka-varscan-mutect	KIAA1211,missense_variant,p.Ala385Thr,ENST00000504228,;KIAA1211,missense_variant,p.Ala378Thr,ENST00000541073,;KIAA1211,missense_variant,p.Ala385Thr,ENST00000264229,NM_020722.1;KIAA1211,missense_variant,p.Ala385Thr,ENST00000636006,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;	A	ENST00000504228	Transcript	missense_variant	1258/4628	1153/3702	385/1233	A/T	Gcg/Acg	rs78564111	1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309		tolerated(0.58)		6/9		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs78564111	.												A	3	1	38	56314655	56314655	G	A	1	0	0	0	0	1	0	0	0	8107	1203	42	3		3	KIAA1211	4	56314655	Missense_Mutation	SNP	G	C3N-00169_TP	7691480	56314655	133899900	62	10020											
ADGRL3	0	.	GRCh38	chr4	61948192	61948192	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaacacaaggctgtcggctCctgacaacaaataagacaca	16	6	7	12	1	1	2	1	1	0	1	3	2	2	2	1	2	2	2	1	2	5	1			C3N-00169_TP	C3N-00169_NB	C	C																c.2517C>A	p.=	p.L839L	ENST00000514591	16/25	143	114	29	202	202	0	strelka-varscan-mutect	ADGRL3,synonymous_variant,p.=,ENST00000512091,NM_001322246.1;ADGRL3,synonymous_variant,p.=,ENST00000514591,NM_015236.4;ADGRL3,synonymous_variant,p.=,ENST00000509896,;ADGRL3,synonymous_variant,p.=,ENST00000511324,;ADGRL3,synonymous_variant,p.=,ENST00000508693,;ADGRL3,synonymous_variant,p.=,ENST00000507164,;ADGRL3,synonymous_variant,p.=,ENST00000506720,;ADGRL3,synonymous_variant,p.=,ENST00000506746,;ADGRL3,synonymous_variant,p.=,ENST00000507625,;ADGRL3,synonymous_variant,p.=,ENST00000506700,;ADGRL3,synonymous_variant,p.=,ENST00000504896,;ADGRL3,synonymous_variant,p.=,ENST00000514157,;ADGRL3,synonymous_variant,p.=,ENST00000508946,;ADGRL3,synonymous_variant,p.=,ENST00000514996,;ADGRL3,synonymous_variant,p.=,ENST00000502815,;ADGRL3,downstream_gene_variant,,ENST00000508078,;	A	ENST00000514591	Transcript	synonymous_variant	2846/6297	2517/4410	839/1469	L	ctC/ctA	COSM5668241,COSM5668242,COSM5668243,COSM5668244	1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4			16/25		PROSITE_profiles:PS50221,hmmpanther:PTHR12011:SF60,hmmpanther:PTHR12011,Pfam_domain:PF01825,SMART_domains:SM00303											1,1,1,1						LOW	1	SNV	5		1,1,1,1	1										PASS		.	.												A	2	1	38	61948192	61948192	C	A	1	0	0	0	0	0	0	0	1	377	842	30	2		2	ADGRL3	4	61948192	Silent	SNP	C	C3N-00169_TP	5633537	61948192	128266363	63	10021											
UGT2B11	0	.	GRCh38	chr4	69205494	69205494	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttacctagaaggtcattcTggggtatccacttgtacagc	9	13	10	9	0	2	1	1	0	1	1	3	1	3	1	2	3	3	3	2	3	5	6	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.1076A>G	p.Gln359Arg	p.Q359R	ENST00000446444	4/6	259	244	15	240	240	0	varscan-mutect	UGT2B11,missense_variant,p.Gln359Arg,ENST00000446444,NM_001073.1;RP11-704M14.1,intron_variant,,ENST00000505646,;RP11-704M14.1,intron_variant,,ENST00000504301,;UGT2B11,non_coding_transcript_exon_variant,,ENST00000513315,;	C	ENST00000446444	Transcript	missense_variant	1085/2088	1076/1590	359/529	Q/R	cAg/cGg		1		-1	UGT2B11	HGNC	HGNC:12545	protein_coding	YES	CCDS3527.1	ENSP00000387683	O75310		UPI0000137A97	NM_001073.1	deleterious(0.02)		4/6		Gene3D:3.40.50.2000,Pfam_domain:PF00201,PROSITE_patterns:PS00375,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF365,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		rs1459033250	.												C	3	2	38	69205494	69205494	T	C	1	0	0	0	0	1	0	0	0	17481	1580	55	5		5	UGT2B11	4	69205494	Missense_Mutation	SNP	T	C3N-00169_TP	7257302	69205494	121009061	64	10022											
DMP1	0	.	GRCh38	chr4	87662912	87662912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actagttatgtagaagaccaGgaagacagtgactccagcga	15	7	11	8	1	0	4	0	1	0	3	1	6	1	5	2	1	1	2	2	1	5	3	rs754686792		C3N-00169_TP	C3N-00169_NB	G	G																c.1134G>T	p.Gln378His	p.Q378H	ENST00000339673	6/6	227	173	54	141	141	0	strelka-varscan-mutect	DMP1,missense_variant,p.Gln378His,ENST00000339673,NM_004407.3;DMP1,missense_variant,p.Gln362His,ENST00000282479,NM_001079911.2;RP11-742B18.1,intron_variant,,ENST00000506480,;RP11-742B18.1,intron_variant,,ENST00000507894,;RP11-742B18.1,upstream_gene_variant,,ENST00000506814,;	T	ENST00000339673	Transcript	missense_variant	1233/2682	1134/1542	378/513	Q/H	caG/caT	rs754686792,COSM3918310	1		1	DMP1	HGNC	HGNC:2932	protein_coding	YES	CCDS3623.1	ENSP00000340935	Q13316		UPI00001294DE	NM_004407.3	deleterious(0.01)		6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR23400,hmmpanther:PTHR23400:SF0,Pfam_domain:PF07263											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs754686792	.												T	3	4	38	87662912	87662912	G	T	1	0	0	0	0	1	0	0	0	4390	991	35	2		2	DMP1	4	87662912	Missense_Mutation	SNP	G	C3N-00169_TP	18457418	87662912	102551643	65	10023											
MMRN1	0	.	GRCh38	chr4	89895079	89895079	+	Missense_Mutation	SNP	G	G	T																															cctgaggatgggaactctcaGaagactatgccttctgcttc																								novel		C3N-00169_TP	C3N-00169_NB	G	G																c.108G>T	p.Gln36His	p.Q36H	ENST00000394980	2/9	151	124	27	175	175	0	strelka-varscan-mutect	MMRN1,missense_variant,p.Gln36His,ENST00000394980,;MMRN1,missense_variant,p.Gln36His,ENST00000264790,NM_007351.2;	T	ENST00000394980	Transcript	missense_variant	427/5217	108/3687	36/1228	Q/H	caG/caT		1		1	MMRN1	HGNC	HGNC:7178	protein_coding	YES	CCDS3635.1	ENSP00000378431	Q13201		UPI000013D570		tolerated_low_confidence(0.35)		2/9		hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	38	89895079	89895079	G	T	1	0	0	0	0	1	0	0	0	9633	933	33	2		2	MMRN1	4	89895079	Missense_Mutation	SNP	G	C3N-00169_TP	2232167	89895079	100319476	66	10024	232	2									
MMRN1	0	.	GRCh38	chr4	89895080	89895080	+	Nonsense_Mutation	SNP	A	A	T																															ctgaggatgggaactctcagAagactatgccttctgcttca																								novel		C3N-00169_TP	C3N-00169_NB	A	A																c.109A>T	p.Lys37Ter	p.K37*	ENST00000394980	2/9	153	126	27	179	179	0	strelka-varscan-mutect	MMRN1,stop_gained,p.Lys37Ter,ENST00000394980,;MMRN1,stop_gained,p.Lys37Ter,ENST00000264790,NM_007351.2;	T	ENST00000394980	Transcript	stop_gained	428/5217	109/3687	37/1228	K/*	Aag/Tag		1		1	MMRN1	HGNC	HGNC:7178	protein_coding	YES	CCDS3635.1	ENSP00000378431	Q13201		UPI000013D570				2/9		hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	38	89895080	89895080	A	T	1	0	0	0	0	0	1	0	0	9633	247	9	4		4	MMRN1	4	89895080	Nonsense_Mutation	SNP	A	C3N-00169_TP	1	89895080	100319475	67	10025	232	2									
SLC9B2	0	.	GRCh38	chr4	103044942	103044942	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaagaacagatccagttGccacaccaattaccacctcc	14	7	4	16	0	0	2	0	0	0	2	3	2	3	2	7	0	3	1	7	0	4	2	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.944C>G	p.Ala315Gly	p.A315G	ENST00000394785	8/12	229	200	29	209	209	0	strelka-varscan-mutect	SLC9B2,missense_variant,p.Ala315Gly,ENST00000394785,NM_178833.5;SLC9B2,missense_variant,p.Ala315Gly,ENST00000362026,;SLC9B2,missense_variant,p.Ala258Gly,ENST00000503103,NM_001300756.1;SLC9B2,missense_variant,p.Ala258Gly,ENST00000503230,NM_001300754.1;SLC9B2,missense_variant,p.Ala215Gly,ENST00000506288,;SLC9B2,non_coding_transcript_exon_variant,,ENST00000510976,;SLC9B2,downstream_gene_variant,,ENST00000515424,;	C	ENST00000394785	Transcript	missense_variant	1576/3126	944/1614	315/537	A/G	gCa/gGa		1		-1	SLC9B2	HGNC	HGNC:25143	protein_coding	YES	CCDS3662.1	ENSP00000378265	Q86UD5	A0A024RDJ7	UPI000020B27F	NM_178833.5	tolerated(0.24)		8/12		Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF6,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	38	103044942	103044942	G	C	1	0	0	0	0	1	0	0	0	15005	1319	46	4		4	SLC9B2	4	103044942	Missense_Mutation	SNP	G	C3N-00169_TP	13149862	103044942	87169613	68	10026											
HSPA4L	0	.	GRCh38	chr4	127803796	127803796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaaactaaagaagctaatGagtgcaaatgcatcagatct	19	8	8	6	0	2	3	1	1	1	2	2	4	2	3	0	0	4	3	0	0	7	2	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.831G>A	p.Met277Ile	p.M277I	ENST00000296464	7/19	205	167	38	148	148	0	strelka-varscan-mutect	HSPA4L,missense_variant,p.Met277Ile,ENST00000296464,NM_014278.2;HSPA4L,missense_variant,p.Met277Ile,ENST00000508776,;HSPA4L,missense_variant,p.Met251Ile,ENST00000505726,;HSPA4L,missense_variant,p.Met236Ile,ENST00000508549,;	A	ENST00000296464	Transcript	missense_variant	1242/10790	831/2520	277/839	M/I	atG/atA		1		1	HSPA4L	HGNC	HGNC:17041	protein_coding	YES	CCDS3734.1	ENSP00000296464	O95757	A0A140VKE7	UPI000007452A	NM_014278.2	deleterious(0)		7/19		hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF161,Pfam_domain:PF00012,Gene3D:3.90.640.10,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		rs1444916011	.												A	3	1	38	127803796	127803796	G	A	1	0	0	0	0	1	0	0	0	7309	1290	45	3		3	HSPA4L	4	127803796	Missense_Mutation	SNP	G	C3N-00169_TP	24758854	127803796	62410759	69	10027											
FREM3	0	.	GRCh38	chr4	143697295	143697295	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagactgggacattttTgaaccaggagctgatgcaat	12	10	10	9	0	0	3	0	2	0	1	0	5	0	5	2	2	4	2	2	2	3	3	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.3381A>T	p.=	p.S1127S	ENST00000329798	1/8	167	138	29	137	137	0	strelka-varscan-mutect	FREM3,synonymous_variant,p.=,ENST00000329798,NM_001168235.1;RP13-578N3.3,upstream_gene_variant,,ENST00000499587,;	A	ENST00000329798	Transcript	synonymous_variant	3381/6729	3381/6420	1127/2139	S	tcA/tcT		1		-1	FREM3	HGNC	HGNC:25172	protein_coding	YES	CCDS54808.1	ENSP00000332886	P0C091		UPI0000D615C2	NM_001168235.1			1/8		Pfam_domain:PF16184,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF31																	LOW		SNV	5			1										PASS		rs1226970332	.												A	2	1	38	143697295	143697295	T	A	1	0	0	0	0	0	0	0	1	5913	1799	63	4		4	FREM3	4	143697295	Silent	SNP	T	C3N-00169_TP	15893499	143697295	46517260	70	10028											
VEGFC	0	.	GRCh38	chr4	176727904	176727904	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcgcgactccaaactcCttccccacatctatacacac	10	11	3	17	2	1	0	0	0	1	0	5	1	4	0	4	0	2	0	4	0	3	4	rs867744061		C3N-00169_TP	C3N-00169_NB	C	C																c.426G>T	p.Lys142Asn	p.K142N	ENST00000618562	3/7	169	133	36	145	145	0	strelka-varscan-mutect	VEGFC,missense_variant,p.Lys142Asn,ENST00000618562,NM_005429.4;VEGFC,non_coding_transcript_exon_variant,,ENST00000507638,;	A	ENST00000618562	Transcript	missense_variant	842/2064	426/1260	142/419	K/N	aaG/aaT	rs867744061	1		-1	VEGFC	HGNC	HGNC:12682	protein_coding	YES	CCDS43285.1	ENSP00000480043	P49767		UPI0000001C2A	NM_005429.4	deleterious(0)		3/7		PROSITE_profiles:PS50278,hmmpanther:PTHR12025:SF3,hmmpanther:PTHR12025,Pfam_domain:PF00341,Gene3D:2.10.90.10,SMART_domains:SM00141,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		rs867744061	.												A	3	1	38	176727904	176727904	C	A	1	0	0	0	0	1	0	0	0	17697	680	24	2		2	VEGFC	4	176727904	Missense_Mutation	SNP	C	C3N-00169_TP	33030609	176727904	13486651	71	10029											
ADCY2	0	.	GRCh38	chr5	7698374	7698374	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacatgtgtgaagccataaAgtaagtggactgcttagtaa	14	10	12	5	0	0	1	0	1	0	0	0	3	0	3	1	2	2	3	1	2	6	4	novel		C3N-00169_TP	C3N-00169_NB	A	A																c.1109A>G	p.Lys370Arg	p.K370R	ENST00000338316	7/25	385	329	56	338	338	0	strelka-varscan-mutect	ADCY2,missense_variant,p.Lys370Arg,ENST00000338316,NM_020546.2;ADCY2,downstream_gene_variant,,ENST00000515681,;	G	ENST00000338316	Transcript	missense_variant,splice_region_variant	1198/6575	1109/3276	370/1091	K/R	aAg/aGg		1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2	tolerated(0.19)		7/25		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,SMART_domains:SM00044,Superfamily_domains:SSF55073																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	38	7698374	7698374	A	G	1	0	0	0	0	1	0	0	0	338	86	3	5		5	ADCY2	5	7698374	Missense_Mutation	SNP	A	C3N-00169_TP		7698374	173839885	72	10030											
ZFR	0	.	GRCh38	chr5	32419962	32419962	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgcaacagctactggAgcaggcctggcaactgcaac	11	5	12	13	0	0	0	0	0	0	0	0	1	0	1	1	3	9	7	1	3	4	1	novel		C3N-00169_TP	C3N-00169_NB	A	A																c.279T>C	p.=	p.A93A	ENST00000265069	3/20	196	162	34	141	141	0	strelka-varscan	ZFR,synonymous_variant,p.=,ENST00000265069,NM_016107.3;ZFR,non_coding_transcript_exon_variant,,ENST00000505366,;ZFR,non_coding_transcript_exon_variant,,ENST00000505204,;	G	ENST00000265069	Transcript	synonymous_variant	382/4738	279/3225	93/1074	A	gcT/gcC		1		-1	ZFR	HGNC	HGNC:17277	protein_coding	YES	CCDS34139.1	ENSP00000265069	Q96KR1		UPI00001BBB38	NM_016107.3			3/20		Low_complexity_(Seg):seg,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF87																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	38	32419962	32419962	A	G	1	0	0	0	0	0	0	0	1	18237	291	11	5		5	ZFR	5	32419962	Silent	SNP	A	C3N-00169_TP	24721588	32419962	149118297	73	10031											
RXFP3	0	.	GRCh38	chr5	33937762	33937762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcttcctgtgttggctgcCcaaccaggcgctcaccacct	5	11	8	17	1	2	0	1	0	1	0	3	0	3	0	5	2	2	3	5	2	1	3	rs778264518		C3N-00169_TP	C3N-00169_NB	C	C																c.1022C>T	p.Pro341Leu	p.P341L	ENST00000330120	1/1	642	592	50	397	397	0	strelka-varscan	RXFP3,missense_variant,p.Pro341Leu,ENST00000330120,NM_016568.3;	T	ENST00000330120	Transcript	missense_variant	1377/1852	1022/1410	341/469	P/L	cCc/cTc	rs778264518	1		1	RXFP3	HGNC	HGNC:24883	protein_coding	YES	CCDS3900.1	ENSP00000328708	Q9NSD7		UPI0000046AEB	NM_016568.3	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF70,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	38	33937762	33937762	C	T	1	0	0	0	0	1	0	0	0	14022	623	22	3		3	RXFP3	5	33937762	Missense_Mutation	SNP	C	C3N-00169_TP	1517800	33937762	147600497	74	10032											
PRLR	0	.	GRCh38	chr5	35084543	35084543	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtggcattgaccatcatGatgtatgtcctccacatgga	10	13	9	9	0	1	2	1	2	0	0	3	3	3	3	3	2	0	2	3	2	2	3			C3N-00169_TP	C3N-00169_NB	G	G																c.300C>A	p.=	p.I100I	ENST00000618457	5/10	332	259	73	169	169	0	strelka-varscan	PRLR,synonymous_variant,p.=,ENST00000618457,NM_000949.6;PRLR,synonymous_variant,p.=,ENST00000542609,NM_001204316.1;PRLR,synonymous_variant,p.=,ENST00000231423,;PRLR,synonymous_variant,p.=,ENST00000509140,NM_001204317.1;PRLR,synonymous_variant,p.=,ENST00000513753,;PRLR,synonymous_variant,p.=,ENST00000514088,NM_001204318.1;PRLR,synonymous_variant,p.=,ENST00000619676,NM_001204315.1;PRLR,synonymous_variant,p.=,ENST00000348262,;PRLR,synonymous_variant,p.=,ENST00000310101,;PRLR,synonymous_variant,p.=,ENST00000514206,;PRLR,synonymous_variant,p.=,ENST00000509839,;PRLR,synonymous_variant,p.=,ENST00000503330,;PRLR,intron_variant,,ENST00000620785,NM_001204314.2;PRLR,intron_variant,,ENST00000511486,;PRLR,downstream_gene_variant,,ENST00000504500,;PRLR,downstream_gene_variant,,ENST00000515839,;PRLR,non_coding_transcript_exon_variant,,ENST00000509934,;PRLR,3_prime_UTR_variant,,ENST00000618625,;PRLR,3_prime_UTR_variant,,ENST00000397391,;PRLR,intron_variant,,ENST00000508107,;CTD-2046J7.1,downstream_gene_variant,,ENST00000510160,;	T	ENST00000618457	Transcript	synonymous_variant	727/11688	300/1869	100/622	I	atC/atA	COSM3615622,COSM3615623,COSM4898045	1		-1	PRLR	HGNC	HGNC:9446	protein_coding	YES	CCDS3909.1	ENSP00000482954	P16471		UPI0000132234	NM_000949.6			5/10		Gene3D:2.60.40.10,Pfam_domain:PF09067,PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF86,SMART_domains:SM00060,Superfamily_domains:SSF49265											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												T	2	4	38	35084543	35084543	G	T	1	0	0	0	0	0	0	0	1	12663	1280	45	2		2	PRLR	5	35084543	Silent	SNP	G	C3N-00169_TP	1146781	35084543	146453716	75	10033											
FOXD1	0	.	GRCh38	chr5	73447831	73447831	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaagcagtcgttgagcgAgaggttgtggcggatgctgt	8	9	18	6	4	0	2	0	1	0	1	1	6	0	3	0	3	3	4	0	3	1	2	novel		C3N-00169_TP	C3N-00169_NB	A	A																c.532T>A	p.Ser178Thr	p.S178T	ENST00000615637	1/1	616	509	107	674	673	1	strelka-varscan	FOXD1,missense_variant,p.Ser178Thr,ENST00000615637,NM_004472.2;LINC01385,upstream_gene_variant,,ENST00000512310,;FOXD1-AS1,downstream_gene_variant,,ENST00000514661,;FOXD1,upstream_gene_variant,,ENST00000513595,;	T	ENST00000615637	Transcript	missense_variant	697/2272	532/1398	178/465	S/T	Tcg/Acg		1		-1	FOXD1	HGNC	HGNC:3802	protein_coding	YES	CCDS75259.1	ENSP00000481581	Q16676		UPI000012ADC8	NM_004472.2	deleterious(0)		1/1		Gene3D:1.10.10.10,Pfam_domain:PF00250,Prints_domain:PR00053,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF168,SMART_domains:SM00339,Superfamily_domains:SSF46785																	MODERATE		SNV				1										PASS		.	.												T	3	4	38	73447831	73447831	A	T	1	0	0	0	0	1	0	0	0	5856	304	11	4		4	FOXD1	5	73447831	Missense_Mutation	SNP	A	C3N-00169_TP	38363288	73447831	108090428	76	10034											
SLC25A48	0	.	GRCh38	chr5	135888034	135888034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtttgctgtttccaggaGgtgaacacaggatgactaca	10	12	12	7	0	0	2	0	2	0	0	1	4	1	4	1	3	3	4	1	3	2	4	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.424G>T	p.Gly142Cys	p.G142C	ENST00000412661	5/5	120	82	38	126	125	1	strelka-varscan	SLC25A48,missense_variant,p.Gly142Cys,ENST00000412661,NM_145282.4;IL9,downstream_gene_variant,,ENST00000274520,NM_000590.1;SLC25A48,downstream_gene_variant,,ENST00000510147,;SLC25A48,downstream_gene_variant,,ENST00000471980,;	T	ENST00000412661	Transcript	missense_variant,splice_region_variant	545/1148	424/474	142/157	G/C	Ggt/Tgt		1		1	SLC25A48	HGNC	HGNC:30451	protein_coding	YES	CCDS43366.2	ENSP00000413049	Q6ZT89		UPI000006FF97	NM_145282.4	tolerated(0.05)		5/5		PROSITE_profiles:PS50920,Gene3D:1okcA00,Pfam_domain:PF00153																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	135888034	135888034	G	T	1	0	0	0	0	1	0	0	0	14778	1014	35	2		2	SLC25A48	5	135888034	Missense_Mutation	SNP	G	C3N-00169_TP	62440203	135888034	45650225	77	10035											
PCDHAC1	0	.	GRCh38	chr5	140928031	140928031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagggtcatttgtggcatgtCtagtgcaggcccttttcagc	6	14	12	9	0	3	0	2	0	1	0	3	0	3	0	1	3	2	2	1	3	2	5	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1139C>T	p.Ser380Phe	p.S380F	ENST00000253807	1/4	321	267	54	413	413	0	strelka-varscan	PCDHAC1,missense_variant,p.Ser380Phe,ENST00000253807,NM_018898.3;PCDHAC1,missense_variant,p.Ser380Phe,ENST00000409700,NM_031882.3;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA11,intron_variant,,ENST00000398640,NM_018902.4;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA13,intron_variant,,ENST00000289272,NM_018904.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA12,intron_variant,,ENST00000398631,NM_018903.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA13,intron_variant,,ENST00000409494,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA11,intron_variant,,ENST00000617408,;	T	ENST00000253807	Transcript	missense_variant	1139/5299	1139/2892	380/963	S/F	tCt/tTt		1		1	PCDHAC1	HGNC	HGNC:8676	protein_coding	YES	CCDS4241.1	ENSP00000253807	Q9H158		UPI000013CDF7	NM_018898.3	deleterious(0.01)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF132,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	140928031	140928031	C	T	1	0	0	0	0	1	0	0	0	11619	913	32	3		3	PCDHAC1	5	140928031	Missense_Mutation	SNP	C	C3N-00169_TP	5039997	140928031	40610228	78	10036											
PCDHB3	0	.	GRCh38	chr5	141101713	141101713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcttcagtaaacagccCtattcctgagaactcgggag	10	11	9	11	1	2	1	1	1	1	1	4	3	3	2	2	1	3	1	2	1	4	5	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1064C>A	p.Pro355His	p.P355H	ENST00000231130	1/1	61	33	28	91	91	0	strelka-varscan	PCDHB3,missense_variant,p.Pro355His,ENST00000231130,NM_018937.4;PCDHB2,downstream_gene_variant,,ENST00000194155,NM_018936.3;PCDHB2,downstream_gene_variant,,ENST00000622947,;PCDHB3,upstream_gene_variant,,ENST00000624513,;PCDHB2,downstream_gene_variant,,ENST00000624994,;AC005754.7,intron_variant,,ENST00000607216,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;	A	ENST00000231130	Transcript	missense_variant	1241/3355	1064/2391	355/796	P/H	cCt/cAt		1		1	PCDHB3	HGNC	HGNC:8688	protein_coding	YES	CCDS4245.1	ENSP00000231130	Q9Y5E6		UPI0003CC25DF	NM_018937.4	tolerated_low_confidence(0.09)		1/1		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												A	3	1	38	141101713	141101713	C	A	1	0	0	0	0	1	0	0	0	11630	681	24	2		2	PCDHB3	5	141101713	Missense_Mutation	SNP	C	C3N-00169_TP	173682	141101713	40436546	79	10037											
PCDHGB3	0	.	GRCh38	chr5	141371666	141371666	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaatgtgacgatcacagcTaccgacaaaggcaatccacc	15	6	7	13	2	1	1	1	1	0	0	2	3	2	1	3	1	3	2	3	1	5	2	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.1272T>A	p.=	p.A424A	ENST00000576222	1/4	303	203	100	407	407	0	strelka-varscan	PCDHGB3,synonymous_variant,p.=,ENST00000576222,NM_018924.4;PCDHGB3,synonymous_variant,p.=,ENST00000618934,NM_032097.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA6,upstream_gene_variant,,ENST00000610583,NM_032086.1;PCDHGA6,upstream_gene_variant,,ENST00000517434,NM_018919.2;PCDHGA5,downstream_gene_variant,,ENST00000611914,NM_032054.1;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000576222	Transcript	synonymous_variant	1403/4727	1272/2790	424/929	A	gcT/gcA		1		1	PCDHGB3	HGNC	HGNC:8710	protein_coding	YES	CCDS58980.1	ENSP00000461862	Q9Y5G1		UPI0000EE35B5	NM_018924.4			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	38	141371666	141371666	T	A	1	0	0	0	0	0	0	0	1	11651	1509	53	4		4	PCDHGB3	5	141371666	Silent	SNP	T	C3N-00169_TP	269953	141371666	40166593	80	10038											
CSF1R	0	.	GRCh38	chr5	150070032	150070032	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctcagggtatgggtcatCccagacctgcagcacttggg	8	8	13	12	0	2	1	2	0	0	1	3	2	3	1	3	3	2	3	3	3	1	2	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1351G>T	p.Asp451Tyr	p.D451Y	ENST00000286301	10/22	90	60	30	92	92	0	strelka-varscan	CSF1R,missense_variant,p.Asp451Tyr,ENST00000286301,NM_001288705.1,NM_005211.3;CSF1R,downstream_gene_variant,,ENST00000543093,;CSF1R,upstream_gene_variant,,ENST00000515239,;CSF1R,missense_variant,p.Asp451Tyr,ENST00000504875,;CSF1R,upstream_gene_variant,,ENST00000513609,;	A	ENST00000286301	Transcript	missense_variant	1643/3989	1351/2919	451/972	D/Y	Gat/Tat		1		-1	CSF1R	HGNC	HGNC:2433	protein_coding	YES	CCDS4302.1	ENSP00000286301	P07333		UPI000004984A	NM_001288705.1,NM_005211.3	tolerated(0.07)		10/22		PROSITE_profiles:PS50835,hmmpanther:PTHR24416:SF47,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000615,Pfam_domain:PF13927,Gene3D:2.60.40.10,PIRSF_domain:PIRSF500947,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	38	150070032	150070032	C	A	1	0	0	0	0	1	0	0	0	3733	855	30	2		2	CSF1R	5	150070032	Missense_Mutation	SNP	C	C3N-00169_TP	8698366	150070032	31468227	81	10039											
FAT2	0	.	GRCh38	chr5	151568578	151568578	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttctctgtggcttggatGatgagggtgtagctgtctcg	4	15	15	7	1	3	2	0	2	3	0	5	3	3	3	0	3	1	3	0	3	1	3			C3N-00169_TP	C3N-00169_NB	G	G																c.354C>T	p.=	p.I118I	ENST00000261800	1/23	147	127	20	166	166	0	strelka-varscan	FAT2,synonymous_variant,p.=,ENST00000261800,NM_001447.2;	A	ENST00000261800	Transcript	synonymous_variant	367/14534	354/13050	118/4349	I	atC/atT	COSM4489908	1		-1	FAT2	HGNC	HGNC:3596	protein_coding	YES	CCDS4317.1	ENSP00000261800	Q9NYQ8		UPI0000055B22	NM_001447.2			1/23		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	38	151568578	151568578	G	A	1	0	0	0	0	0	0	0	1	5550	1280	45	3		3	FAT2	5	151568578	Silent	SNP	G	C3N-00169_TP	1498546	151568578	29969681	82	10040											
HAVCR2	0	.	GRCh38	chr5	157106627	157106627	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcaaatgtccactcacCtggtttgatgaccaacttca	11	11	7	12	0	2	2	2	2	0	0	3	2	3	2	3	1	2	3	3	1	2	2	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.394G>T	p.Ala132Ser	p.A132S	ENST00000307851	2/7	83	58	25	110	109	1	strelka-varscan	HAVCR2,missense_variant,p.Ala132Ser,ENST00000307851,NM_032782.4;HAVCR2,missense_variant,p.Ala132Ser,ENST00000522593,;HAVCR2,missense_variant,p.Ala15Ser,ENST00000524219,;CTB-120L21.1,intron_variant,,ENST00000517708,;HAVCR2,downstream_gene_variant,,ENST00000517358,;HAVCR2,splice_region_variant,,ENST00000521665,;HAVCR2,non_coding_transcript_exon_variant,,ENST00000522902,;	A	ENST00000307851	Transcript	missense_variant,splice_region_variant	1125/2907	394/906	132/301	A/S	Gcc/Tcc		1		-1	HAVCR2	HGNC	HGNC:18437	protein_coding	YES	CCDS4333.1	ENSP00000312002	Q8TDQ0		UPI000011AAFA	NM_032782.4	tolerated(0.14)		2/7		hmmpanther:PTHR15498:SF45,hmmpanther:PTHR15498,Gene3D:2.60.40.10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	38	157106627	157106627	C	A	1	0	0	0	0	1	0	0	0	6860	695	24	2		2	HAVCR2	5	157106627	Missense_Mutation	SNP	C	C3N-00169_TP	5538049	157106627	24431632	83	10041											
F12	0	.	GRCh38	chr5	177403304	177403304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagagcgtggtctcggagGgtcgcgcggcgccgcttggc	3	6	20	12	7	1	1	0	0	1	1	3	2	1	2	1	6	1	2	1	6	0	1	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.1481C>A	p.Pro494His	p.P494H	ENST00000253496	12/14	481	349	132	512	511	1	strelka-varscan	F12,missense_variant,p.Pro494His,ENST00000253496,NM_000505.3;GRK6,5_prime_UTR_variant,,ENST00000502598,;SLC34A1,downstream_gene_variant,,ENST00000324417,NM_003052.4;GRK6,upstream_gene_variant,,ENST00000506296,;PFN3,upstream_gene_variant,,ENST00000358571,NM_001029886.2;F12,non_coding_transcript_exon_variant,,ENST00000514943,;SLC34A1,downstream_gene_variant,,ENST00000513614,;F12,non_coding_transcript_exon_variant,,ENST00000510358,;F12,non_coding_transcript_exon_variant,,ENST00000502854,;F12,non_coding_transcript_exon_variant,,ENST00000504406,;F12,downstream_gene_variant,,ENST00000503736,;	T	ENST00000253496	Transcript	missense_variant	1530/2049	1481/1848	494/615	P/H	cCc/cAc		1		-1	F12	HGNC	HGNC:3530	protein_coding	YES	CCDS34302.1	ENSP00000253496	P00748		UPI000048055F	NM_000505.3	tolerated(0.59)		12/14		Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001146,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF177,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	177403304	177403304	G	T	1	0	0	0	0	1	0	0	0	5207	1232	43	2		2	F12	5	177403304	Missense_Mutation	SNP	G	C3N-00169_TP	20296677	177403304	4134955	84	10042											
FAM83B	0	.	GRCh38	chr6	54940711	54940711	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgagacacctaaagaggtCccagacacccctacgaatgt	14	6	9	12	1	0	3	0	1	0	3	1	5	1	3	4	1	1	0	4	1	4	2	rs371325026		C3N-00169_TP	C3N-00169_NB	C	C																c.1740C>A	p.=	p.V580V	ENST00000306858	5/5	126	93	33	196	196	0	strelka-varscan	FAM83B,synonymous_variant,p.=,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;	A	ENST00000306858	Transcript	synonymous_variant	1856/3167	1740/3036	580/1011	V	gtC/gtA	rs371325026	1		1	FAM83B	HGNC	HGNC:21357	protein_coding	YES	CCDS34479.1	ENSP00000304078	Q5T0W9		UPI00001D81EC	NM_001010872.2			5/5		hmmpanther:PTHR16181:SF4,hmmpanther:PTHR16181																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	38	54940711	54940711	C	A	1	0	0	0	0	0	0	0	1	5492	842	30	2		2	FAM83B	6	54940711	Silent	SNP	C	C3N-00169_TP		54940711	115865268	85	10043											
PHF3	0	.	GRCh38	chr6	63712225	63712225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatagaaacatcagtagtagGgtcctcttccatttctgcag	12	12	8	9	0	3	1	1	0	2	1	5	1	5	1	2	1	2	3	2	1	5	5	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.4637G>A	p.Gly1546Glu	p.G1546E	ENST00000262043	16/16	269	226	43	218	218	0	strelka-varscan	PHF3,missense_variant,p.Gly1546Glu,ENST00000262043,NM_001290259.1;PHF3,missense_variant,p.Gly1546Glu,ENST00000393387,NM_015153.3;PHF3,missense_variant,p.Gly815Glu,ENST00000515594,;PHF3,intron_variant,,ENST00000505138,;PHF3,downstream_gene_variant,,ENST00000506783,;PHF3,3_prime_UTR_variant,,ENST00000509876,;	A	ENST00000262043	Transcript	missense_variant	4977/8233	4637/6120	1546/2039	G/E	gGg/gAg		1		1	PHF3	HGNC	HGNC:8921	protein_coding	YES	CCDS4966.1	ENSP00000262043	Q92576		UPI000007154D	NM_001290259.1	tolerated(0.24)		16/16		Low_complexity_(Seg):seg,hmmpanther:PTHR11477,hmmpanther:PTHR11477:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	38	63712225	63712225	G	A	1	0	0	0	0	1	0	0	0	11923	1232	43	3		3	PHF3	6	63712225	Missense_Mutation	SNP	G	C3N-00169_TP	8771514	63712225	107093754	86	10044											
COL19A1	0	.	GRCh38	chr6	69936825	69936825	+	Frame_Shift_Del	DEL	G	G	-																															tggaaatattgcatcatcatGggtaactgctcatgccagta																								novel		C3N-00169_TP	C3N-00169_NB	G	G																c.790delG	p.Val264Ter	p.V264*	ENST00000620364	8/51	107	86	21	147	147	0	sindel-varindel-pindel	COL19A1,frameshift_variant,p.Val264Ter,ENST00000620364,NM_001858.5;COL19A1,upstream_gene_variant,,ENST00000483745,;	-	ENST00000620364	Transcript	frameshift_variant	890/6233	788/3429	263/1142	W/X	tGg/tg		1		1	COL19A1	HGNC	HGNC:2196	protein_coding	YES	CCDS4970.1	ENSP00000480474	Q14993		UPI000004F1E3	NM_001858.5			8/51																			HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	38	69936825	69936825	G	-	1	0	1	0	1	0	0	0	0	3464	1357	47	0		0	COL19A1	6	69936825	Frame_Shift_Del	DEL	G	C3N-00169_TP	6224600	69936825	100869154	87	10045											
SCML4	0	.	GRCh38	chr6	107749740	107749740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggctgcgtcctgagggatgGagctgaggtcgggctctggg	4	9	20	8	2	1	2	0	2	1	0	3	4	2	4	1	6	2	3	1	6	0	0	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.230C>A	p.Ser77Tyr	p.S77Y	ENST00000369020	3/8	216	161	55	262	262	0	strelka-varscan	SCML4,missense_variant,p.Ser19Tyr,ENST00000369022,NM_001286408.1;SCML4,missense_variant,p.Ser48Tyr,ENST00000369021,;SCML4,missense_variant,p.Ser77Tyr,ENST00000369020,NM_198081.4;SCML4,missense_variant,p.Ser48Tyr,ENST00000440927,;SCML4,missense_variant,p.Ser19Tyr,ENST00000426221,;SCML4,non_coding_transcript_exon_variant,,ENST00000473515,;SCML4,non_coding_transcript_exon_variant,,ENST00000459992,;SCML4,non_coding_transcript_exon_variant,,ENST00000463507,;	T	ENST00000369020	Transcript	missense_variant	476/1491	230/1245	77/414	S/Y	tCc/tAc		1		-1	SCML4	HGNC	HGNC:21397	protein_coding	YES	CCDS5060.2	ENSP00000358016	Q8N228		UPI0000EE1E57	NM_198081.4	deleterious(0)		3/8		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF85																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	38	107749740	107749740	G	T	1	0	0	0	0	1	0	0	0	14180	1174	41	2		2	SCML4	6	107749740	Missense_Mutation	SNP	G	C3N-00169_TP	37812915	107749740	63056239	88	10046											
WDR27	0	.	GRCh38	chr6	169582842	169582842	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagactgtacctggggCgctgatgggttgaaggccac	9	7	15	10	1	0	3	0	2	0	1	0	3	0	3	2	4	2	4	2	4	3	2	rs752469238		C3N-00169_TP	C3N-00169_NB	C	C																c.2517G>T	p.=	p.A839A	ENST00000448612	24/26	190	126	64	234	234	0	strelka-varscan-mutect	WDR27,synonymous_variant,p.=,ENST00000448612,NM_182552.4;WDR27,synonymous_variant,p.=,ENST00000423258,NM_001202550.1;WDR27,non_coding_transcript_exon_variant,,ENST00000546525,;WDR27,non_coding_transcript_exon_variant,,ENST00000479310,;	A	ENST00000448612	Transcript	synonymous_variant	2627/3178	2517/2688	839/895	A	gcG/gcT	rs752469238	1		-1	WDR27	HGNC	HGNC:21248	protein_coding	YES	CCDS47520.2	ENSP00000416289	A2RRH5		UPI00015E06AF	NM_182552.4			24/26		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF410,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		rs752469238	.												A	2	1	38	169582842	169582842	C	A	1	0	0	0	0	0	0	0	1	17844	755	27	1		1	WDR27	6	169582842	Silent	SNP	C	C3N-00169_TP	61833102	169582842	1223137	89	10047											
GRID2IP	0	.	GRCh38	chr7	6520719	6520719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgccacccactgcagggagGtgagcgccgacgacgggttg	7	4	16	14	5	0	1	0	1	0	0	0	4	0	2	4	3	2	2	4	3	0	1	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.1127C>A	p.Thr376Asn	p.T376N	ENST00000457091	7/22	155	121	34	192	192	0	strelka-varscan-mutect	GRID2IP,missense_variant,p.Thr376Asn,ENST00000457091,NM_001145118.1;GRID2IP,missense_variant,p.Thr186Asn,ENST00000452113,;GRID2IP,missense_variant,p.Thr193Asn,ENST00000435185,;	T	ENST00000457091	Transcript	missense_variant	1127/3636	1127/3636	376/1211	T/N	aCc/aAc		1		-1	GRID2IP	HGNC	HGNC:18464	protein_coding	YES	CCDS47537.1	ENSP00000397351	A4D2P6		UPI0001722D0B	NM_001145118.1	deleterious(0.05)		7/22		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF242																	MODERATE	1	SNV	5			1										PASS		rs1358249298	.												T	3	4	38	6520719	6520719	G	T	1	0	0	0	0	1	0	0	0	6653	1261	44	2		2	GRID2IP	7	6520719	Missense_Mutation	SNP	G	C3N-00169_TP		6520719	152825254	90	10048											
DFNA5	0	.	GRCh38	chr7	24699030	24699030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagttcacatatgacatcatGaatgttctctgcctaaagca	13	13	6	9	0	3	2	2	2	1	0	4	2	3	2	1	0	2	3	1	0	5	5	rs559632895		C3N-00169_TP	C3N-00169_NB	G	G																c.1487C>T	p.Ser496Leu	p.S496L	ENST00000342947	10/10	392	343	49	363	363	0	strelka-mutect	DFNA5,missense_variant,p.Ser496Leu,ENST00000342947,NM_004403.2;DFNA5,missense_variant,p.Ser332Leu,ENST00000419307,NM_001127454.1;DFNA5,missense_variant,p.Ser332Leu,ENST00000409970,;DFNA5,missense_variant,p.Ser496Leu,ENST00000409775,NM_001127453.1;MPP6,downstream_gene_variant,,ENST00000222644,NM_001303037.1,NM_016447.3;DFNA5,downstream_gene_variant,,ENST00000430096,;DFNA5,non_coding_transcript_exon_variant,,ENST00000479636,;	A	ENST00000342947	Transcript	missense_variant	1913/2590	1487/1491	496/496	S/L	tCa/tTa	rs559632895	1		-1	DFNA5	HGNC	HGNC:2810	protein_coding	YES	CCDS5389.1	ENSP00000339587	O60443	A0A024RA58	UPI00001291FC	NM_004403.2	deleterious_low_confidence(0.02)		10/10		hmmpanther:PTHR15207,hmmpanther:PTHR15207:SF1																	MODERATE	1	SNV	1			1										PASS		rs559632895	.												A	3	1	38	24699030	24699030	G	A	1	0	0	0	0	1	0	0	0	4262	1294	45	3		3	DFNA5	7	24699030	Missense_Mutation	SNP	G	C3N-00169_TP	18178311	24699030	134646943	91	10049											
ZNF716	0	.	GRCh38	chr7	57469649	57469649	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttaccctcaaccttcacTtaccacaagagaactcatac	14	9	3	15	0	3	1	3	0	0	1	3	2	3	1	3	0	6	1	3	0	6	4	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.1188T>A	p.=	p.T396T	ENST00000420713	4/4	305	234	71	234	234	0	strelka-varscan-mutect	ZNF716,synonymous_variant,p.=,ENST00000420713,NM_001159279.1;	A	ENST00000420713	Transcript	synonymous_variant	1300/5197	1188/1488	396/495	T	acT/acA		1		1	ZNF716	HGNC	HGNC:32458	protein_coding	YES	CCDS55112.1	ENSP00000394248	A6NP11		UPI00004192FD	NM_001159279.1			4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	4			1										PASS		.	.												A	2	1	38	57469649	57469649	T	A	1	0	0	0	0	0	0	0	1	18694	1596	56	4		4	ZNF716	7	57469649	Silent	SNP	T	C3N-00169_TP	32770619	57469649	101876324	92	10050											
AUTS2	0	.	GRCh38	chr7	70790439	70790439	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaccccatccgggaccccTtgagggatccttaccgagaa	9	6	12	14	2	0	2	0	1	0	1	2	6	2	5	7	3	1	0	7	3	2	2	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.3223T>C	p.=	p.L1075L	ENST00000342771	19/19	91	71	20	125	125	0	strelka-varscan-mutect	AUTS2,synonymous_variant,p.=,ENST00000342771,NM_015570.3;AUTS2,synonymous_variant,p.=,ENST00000406775,NM_001127231.2;AUTS2,synonymous_variant,p.=,ENST00000611706,;AUTS2,synonymous_variant,p.=,ENST00000615871,;AUTS2,downstream_gene_variant,,ENST00000418686,;AUTS2,downstream_gene_variant,,ENST00000498384,;AUTS2,downstream_gene_variant,,ENST00000449547,;AUTS2,downstream_gene_variant,,ENST00000439256,;	C	ENST00000342771	Transcript	synonymous_variant	3544/6173	3223/3780	1075/1259	L	Ttg/Ctg		1		1	AUTS2	HGNC	HGNC:14262	protein_coding	YES	CCDS5539.1	ENSP00000344087	Q8WXX7		UPI0000126665	NM_015570.3			19/19		hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF5																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	38	70790439	70790439	T	C	1	0	0	0	0	0	0	0	1	1381	1606	56	5		5	AUTS2	7	70790439	Silent	SNP	T	C3N-00169_TP	13320790	70790439	88555534	93	10051											
SEMA3E	0	.	GRCh38	chr7	83368020	83368020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaggtccatcttaaccaCtctgtcatctgtcttcacct	9	13	4	15	0	6	0	2	0	4	0	7	0	7	0	4	1	1	0	4	1	2	2	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1894G>A	p.Val632Met	p.V632M	ENST00000307792	17/17	118	97	21	92	92	0	strelka-varscan-mutect	SEMA3E,missense_variant,p.Val632Met,ENST00000307792,NM_012431.2;SEMA3E,missense_variant,p.Val572Met,ENST00000427262,NM_001178129.1;	T	ENST00000307792	Transcript	missense_variant	2362/6476	1894/2328	632/775	V/M	Gtg/Atg		1		-1	SEMA3E	HGNC	HGNC:10727	protein_coding	YES	CCDS34674.1	ENSP00000303212	O15041		UPI0000135A68	NM_012431.2	tolerated(0.06)		17/17		Gene3D:2.60.40.10,Pfam_domain:PF00047,PROSITE_profiles:PS50835,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	83368020	83368020	C	T	1	0	0	0	0	1	0	0	0	14304	565	20	3		3	SEMA3E	7	83368020	Missense_Mutation	SNP	C	C3N-00169_TP	12577581	83368020	75977953	94	10052											
PPP1R3A	0	.	GRCh38	chr7	113879230	113879230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaaaacatttccagttCttgatgaacaaacttgacca	14	12	4	11	0	2	3	1	3	1	0	4	3	4	3	3	0	3	1	3	0	4	4			C3N-00169_TP	C3N-00169_NB	C	C																c.1862G>T	p.Arg621Ile	p.R621I	ENST00000284601	4/4	357	288	69	298	298	0	strelka-varscan-mutect	PPP1R3A,missense_variant,p.Arg621Ile,ENST00000284601,NM_002711.3;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	A	ENST00000284601	Transcript	missense_variant	1931/4384	1862/3369	621/1122	R/I	aGa/aTa	COSM2149488,COSM3411487,COSM4929283,COSM4929284	1		-1	PPP1R3A	HGNC	HGNC:9291	protein_coding	YES	CCDS5759.1	ENSP00000284601	Q16821		UPI000013DDAA	NM_002711.3	deleterious(0)		4/4													1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												A	3	1	38	113879230	113879230	C	A	1	0	0	0	0	1	0	0	0	12492	913	32	2		2	PPP1R3A	7	113879230	Missense_Mutation	SNP	C	C3N-00169_TP	30511210	113879230	45466743	95	10053											
SMO	0	.	GRCh38	chr7	129189399	129189404	+	In_Frame_Del	DEL	TGCCCT	TGCCCT	-																															cgtgtgcctgggctcggtgcTgccctacggggccacctcca																								novel		C3N-00169_TP	C3N-00169_NB	TGCCCT	TGCCCT																c.248_253delTGCCCT	p.Leu83_Tyr85delinsHis	p.L83_Y85delinsH	ENST00000249373	1/12	315	253	62	390	390	0	sindel-varindel-pindel	SMO,inframe_deletion,p.Leu83_Tyr85delinsHis,ENST00000249373,NM_005631.4;	-	ENST00000249373	Transcript	inframe_deletion	528-533/3738	248-253/2364	83-85/787	LPY/H	cTGCCCTac/cac		1		1	SMO	HGNC	HGNC:11119	protein_coding	YES	CCDS5811.1	ENSP00000249373	Q99835		UPI0000050447	NM_005631.4			1/12		PROSITE_profiles:PS50038,hmmpanther:PTHR11309:SF35,hmmpanther:PTHR11309,Gene3D:1ijyA00,Pfam_domain:PF01392,SMART_domains:SM00063,Superfamily_domains:SSF63501																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	38	129189399	129189399	TGCCCT	-	1	0	1	0	1	0	0	0	0	15121	1580	55	0		0	SMO	7	129189399	In_Frame_Del	DEL	TGCCCT	C3N-00169_TP	15310169	129189399	30156574	96	10054											
GIMAP4	0	.	GRCh38	chr7	150569945	150569945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttcaaccccagcacacCaggggccagttatggtgaga	11	6	12	12	0	1	1	1	1	0	1	1	3	1	1	4	3	3	3	4	3	2	2	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.44C>A	p.Pro15Gln	p.P15Q	ENST00000255945	2/3	238	188	50	249	249	0	strelka-varscan-mutect	GIMAP4,missense_variant,p.Pro15Gln,ENST00000255945,NM_018326.2;GIMAP4,missense_variant,p.Pro15Gln,ENST00000461940,;GIMAP4,missense_variant,p.Pro15Gln,ENST00000479232,;GIMAP4,non_coding_transcript_exon_variant,,ENST00000478135,;GIMAP4,intron_variant,,ENST00000494750,;	A	ENST00000255945	Transcript	missense_variant	219/2060	44/990	15/329	P/Q	cCa/cAa		1		1	GIMAP4	HGNC	HGNC:21872	protein_coding	YES	CCDS5904.1	ENSP00000255945	Q9NUV9	A0A090N7X0	UPI0000073CB0	NM_018326.2	tolerated(0.07)		2/3		hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF57																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	38	150569945	150569945	C	A	1	0	0	0	0	1	0	0	0	6261	594	21	2		2	GIMAP4	7	150569945	Missense_Mutation	SNP	C	C3N-00169_TP	21380546	150569945	8776028	97	10055											
KCNH2	0	.	GRCh38	chr7	150952730	150952730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagacagccgtgtagatgaCcagcagcaggatgagccagt	13	5	14	9	1	0	4	0	2	0	2	0	6	0	5	3	1	4	3	3	1	2	1	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1252G>T	p.Val418Phe	p.V418F	ENST00000262186	6/15	373	299	74	499	499	0	strelka-varscan-mutect	KCNH2,missense_variant,p.Val418Phe,ENST00000262186,NM_000238.3;KCNH2,missense_variant,p.Val78Phe,ENST00000330883,NM_172057.2;KCNH2,missense_variant,p.Val302Phe,ENST00000430723,NM_172056.2;KCNH2,non_coding_transcript_exon_variant,,ENST00000532957,;KCNH2,non_coding_transcript_exon_variant,,ENST00000473610,;KCNH2,non_coding_transcript_exon_variant,,ENST00000461280,;	A	ENST00000262186	Transcript	missense_variant	1654/4286	1252/3480	418/1159	V/F	Gtc/Ttc		1		-1	KCNH2	HGNC	HGNC:6251	protein_coding	YES	CCDS5910.1	ENSP00000262186	Q12809	A0A090N8Q0	UPI0000062255	NM_000238.3	deleterious(0)		6/15		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF506,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	38	150952730	150952730	C	A	1	0	0	0	0	1	0	0	0	7948	507	18	2		2	KCNH2	7	150952730	Missense_Mutation	SNP	C	C3N-00169_TP	382785	150952730	8393243	98	10056											
KCNU1	0	.	GRCh38	chr8	36918876	36918876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatcaaactgccgaaaaGtccctatccttactgaactg	15	9	6	11	1	1	2	1	1	0	1	3	3	3	2	3	0	4	0	3	0	7	2	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.2575G>C	p.Val859Leu	p.V859L	ENST00000399881	23/27	109	93	16	106	106	0	strelka-varscan-mutect	KCNU1,missense_variant,p.Val859Leu,ENST00000399881,NM_001031836.2;KCNU1,missense_variant,p.Val859Leu,ENST00000522372,;	C	ENST00000399881	Transcript	missense_variant	2612/3695	2575/3450	859/1149	V/L	Gtc/Ctc		1		1	KCNU1	HGNC	HGNC:18867	protein_coding	YES	CCDS55220.1	ENSP00000382770	A8MYU2		UPI0000F079EF	NM_001031836.2	deleterious(0.01)		23/27		Gene3D:3.40.50.720																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	38	36918876	36918876	G	C	1	0	0	0	0	1	0	0	0	8009	1029	36	4		4	KCNU1	8	36918876	Missense_Mutation	SNP	G	C3N-00169_TP		36918876	108219760	99	10057											
TRPS1	0	.	GRCh38	chr8	115604992	115604992	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatgccaatgaatgttccaCctgaagtcacctggagaaca	14	8	8	11	0	1	3	1	2	0	1	2	4	2	3	4	1	2	1	4	1	5	1			C3N-00169_TP	C3N-00169_NB	C	C																c.977G>C	p.Gly326Ala	p.G326A	ENST00000395715	4/7	138	126	12	141	140	1	strelka-mutect	TRPS1,missense_variant,p.Gly326Ala,ENST00000395715,NM_014112.4,NM_001282903.2;TRPS1,missense_variant,p.Gly313Ala,ENST00000220888,;TRPS1,missense_variant,p.Gly317Ala,ENST00000520276,NM_001282902.2;TRPS1,missense_variant,p.Gly267Ala,ENST00000519076,;TRPS1,missense_variant,p.Gly313Ala,ENST00000519674,;TRPS1,missense_variant,p.Gly317Ala,ENST00000517323,;	G	ENST00000395715	Transcript	missense_variant	1555/9990	977/3885	326/1294	G/A	gGt/gCt	COSM1739439,COSM1739440	1		-1	TRPS1	HGNC	HGNC:12340	protein_coding	YES	CCDS6318.2	ENSP00000379065	Q9UHF7		UPI00002104B8	NM_014112.4,NM_001282903.2	tolerated_low_confidence(0.05)		4/7		hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF176											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	38	115604992	115604992	C	G	1	0	0	0	0	1	0	0	0	17099	507	18	4		4	TRPS1	8	115604992	Missense_Mutation	SNP	C	C3N-00169_TP	78686116	115604992	29533644	100	10058											
SQLE	0	.	GRCh38	chr8	125009334	125009334	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgaaaaaatttacccaCaaatacctggtaagaaatag	18	10	7	6	0	0	2	0	1	0	1	0	2	0	2	2	2	2	2	2	2	9	6	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1099C>T	p.Gln367Ter	p.Q367*	ENST00000265896	6/11	64	56	8	57	57	0	strelka-varscan-mutect	SQLE,stop_gained,p.Gln367Ter,ENST00000265896,NM_003129.3;SQLE,stop_gained,p.Gln272Ter,ENST00000523430,;SQLE,stop_gained,p.Gln19Ter,ENST00000518931,;SQLE,downstream_gene_variant,,ENST00000521232,;SQLE,upstream_gene_variant,,ENST00000520493,;	T	ENST00000265896	Transcript	stop_gained	1997/2961	1099/1725	367/574	Q/*	Caa/Taa		1		1	SQLE	HGNC	HGNC:11279	protein_coding	YES	CCDS47918.1	ENSP00000265896	Q14534	Q9UNR6	UPI0000073EEE	NM_003129.3			6/11		hmmpanther:PTHR10835,Pfam_domain:PF08491																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	38	125009334	125009334	C	T	1	0	0	0	0	0	1	0	0	15487	479	17	3		3	SQLE	8	125009334	Nonsense_Mutation	SNP	C	C3N-00169_TP	9404342	125009334	20129302	101	10059											
AGO2	0	.	GRCh38	chr8	140556214	140556214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgccgacctagcagtcgCtctgatcatggttgaggtct	6	10	14	11	3	3	2	1	2	2	0	4	3	3	2	2	3	1	3	2	3	1	2	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1099G>A	p.Ala367Thr	p.A367T	ENST00000220592	9/19	151	126	25	234	234	0	strelka-varscan-mutect	AGO2,missense_variant,p.Ala367Thr,ENST00000220592,NM_012154.3;AGO2,missense_variant,p.Ala367Thr,ENST00000519980,NM_001164623.1;AGO2,3_prime_UTR_variant,,ENST00000523609,;AGO2,non_coding_transcript_exon_variant,,ENST00000521325,;	T	ENST00000220592	Transcript	missense_variant	1212/14581	1099/2580	367/859	A/T	Gcg/Acg		1		-1	AGO2	HGNC	HGNC:3263	protein_coding	YES	CCDS6380.1	ENSP00000220592	Q9UKV8		UPI0000168652	NM_012154.3	tolerated(0.1)		9/19		HAMAP:MF_03031,hmmpanther:PTHR22891:SF17,hmmpanther:PTHR22891,SMART_domains:SM00949,Superfamily_domains:SSF101690																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	38	140556214	140556214	C	T	1	0	0	0	0	1	0	0	0	465	797	28	3		3	AGO2	8	140556214	Missense_Mutation	SNP	C	C3N-00169_TP	15546880	140556214	4582422	102	10060											
AGTPBP1	0	.	GRCh38	chr9	85655272	85655272	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaacacttcctcattatcaGactggaggtattgacaagag	14	10	9	8	0	2	3	2	1	0	2	3	5	3	4	1	2	1	1	1	2	4	4	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.1114C>G	p.Leu372Val	p.L372V	ENST00000337006	10/25	166	130	36	142	142	0	strelka-varscan-mutect	AGTPBP1,missense_variant,p.Leu372Val,ENST00000337006,NM_001286715.1;AGTPBP1,missense_variant,p.Leu320Val,ENST00000357081,;AGTPBP1,intron_variant,,ENST00000628899,NM_001286717.1;AGTPBP1,intron_variant,,ENST00000376083,NM_015239.2;AGTPBP1,non_coding_transcript_exon_variant,,ENST00000376081,;AGTPBP1,downstream_gene_variant,,ENST00000491784,;AGTPBP1,downstream_gene_variant,,ENST00000376080,;	C	ENST00000337006	Transcript	missense_variant	1181/4473	1114/3837	372/1278	L/V	Ctg/Gtg		1		-1	AGTPBP1	HGNC	HGNC:17258	protein_coding	YES	CCDS75854.1	ENSP00000338512		J3KNS1	UPI000387D56E	NM_001286715.1	tolerated(0.32)		10/25		hmmpanther:PTHR12756:SF24,hmmpanther:PTHR12756																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	38	85655272	85655272	G	C	1	0	0	0	0	1	0	0	0	479	933	33	4		4	AGTPBP1	9	85655272	Missense_Mutation	SNP	G	C3N-00169_TP		85655272	52739445	103	10061											
FOXE1	0	.	GRCh38	chr9	97854090	97854090	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccgccctacagctacaTcgcgctcatcgccatggcca	9	6	9	17	4	1	0	1	0	0	0	3	1	1	0	4	1	4	2	4	1	3	2	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.176T>A	p.Ile59Asn	p.I59N	ENST00000375123	1/1	347	288	59	326	326	0	strelka-varscan-mutect	FOXE1,missense_variant,p.Ile59Asn,ENST00000375123,NM_004473.3;	A	ENST00000375123	Transcript	missense_variant	837/3462	176/1122	59/373	I/N	aTc/aAc		1		1	FOXE1	HGNC	HGNC:3806	protein_coding	YES	CCDS35078.1	ENSP00000364265	O00358		UPI0000167B2F	NM_004473.3	deleterious(0)		1/1		PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF156,PROSITE_patterns:PS00657,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	38	97854090	97854090	T	A	1	0	0	0	0	1	0	0	0	5865	1435	50	4		4	FOXE1	9	97854090	Missense_Mutation	SNP	T	C3N-00169_TP	12198818	97854090	40540627	104	10062											
PSMB7	0	.	GRCh38	chr9	124353627	124353627	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccattgtttggactgtttCttccagcacctcaatctcca	7	15	6	13	0	3	0	1	0	2	0	6	1	5	1	4	1	1	3	4	1	1	4	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.805G>T	p.Glu269Ter	p.E269*	ENST00000259457	8/8	198	160	38	223	223	0	strelka-varscan-mutect	PSMB7,stop_gained,p.Glu269Ter,ENST00000259457,NM_002799.3;NEK6,downstream_gene_variant,,ENST00000373600,NM_001145001.2;NEK6,downstream_gene_variant,,ENST00000320246,NM_014397.5;NEK6,downstream_gene_variant,,ENST00000373603,;NEK6,downstream_gene_variant,,ENST00000539416,NM_001166169.1;NEK6,downstream_gene_variant,,ENST00000546191,NM_001166170.1;NEK6,downstream_gene_variant,,ENST00000540326,NM_001166167.1;NEK6,downstream_gene_variant,,ENST00000545174,NM_001166168.1;NEK6,downstream_gene_variant,,ENST00000394199,NM_001166171.1;PSMB7,non_coding_transcript_exon_variant,,ENST00000498485,;	A	ENST00000259457	Transcript	stop_gained	819/980	805/834	269/277	E/*	Gaa/Taa		1		-1	PSMB7	HGNC	HGNC:9544	protein_coding	YES	CCDS6855.1	ENSP00000259457	Q99436	E9KL30	UPI00001325C7	NM_002799.3			8/8		Pfam_domain:PF12465																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	38	124353627	124353627	C	A	1	0	0	0	0	0	1	0	0	12833	922	32	2		2	PSMB7	9	124353627	Nonsense_Mutation	SNP	C	C3N-00169_TP	26499537	124353627	14041090	105	10063											
EHMT1	0	.	GRCh38	chr9	137834377	137834377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtttactgcatcgacgcgcGgttctacgggaacgtcagcc	7	9	13	12	6	2	0	1	0	1	0	3	2	2	1	1	3	5	3	1	3	3	4			C3N-00169_TP	C3N-00169_NB	G	G																c.3569G>T	p.Arg1190Leu	p.R1190L	ENST00000460843	26/27	407	330	77	390	390	0	strelka-varscan-mutect	EHMT1,missense_variant,p.Arg1190Leu,ENST00000460843,NM_024757.4;EHMT1,missense_variant,p.Arg1159Leu,ENST00000637161,;MIR602,upstream_gene_variant,,ENST00000384960,;EHMT1,non_coding_transcript_exon_variant,,ENST00000472849,;EHMT1,downstream_gene_variant,,ENST00000637287,;EHMT1,3_prime_UTR_variant,,ENST00000637261,;EHMT1,3_prime_UTR_variant,,ENST00000637891,;EHMT1,non_coding_transcript_exon_variant,,ENST00000475564,;EHMT1,non_coding_transcript_exon_variant,,ENST00000494249,;EHMT1,non_coding_transcript_exon_variant,,ENST00000637748,;EHMT1,non_coding_transcript_exon_variant,,ENST00000475704,;EHMT1,intron_variant,,ENST00000462942,;	T	ENST00000460843	Transcript	missense_variant	3635/5137	3569/3897	1190/1298	R/L	cGg/cTg	COSM3952565,COSM3952566	1		1	EHMT1	HGNC	HGNC:24650	protein_coding	YES	CCDS7050.2	ENSP00000417980	Q9H9B1		UPI000194EC2D	NM_024757.4	deleterious(0)		26/27		Gene3D:2.170.270.10,Pfam_domain:PF00856,PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF364,SMART_domains:SM00317,Superfamily_domains:SSF82199											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs886042261	.												T	3	4	38	137834377	137834377	G	T	1	0	0	0	0	1	0	0	0	4819	1116	39	1		1	EHMT1	9	137834377	Missense_Mutation	SNP	G	C3N-00169_TP	13480750	137834377	560340	106	10064											
FBXO18	0	.	GRCh38	chr10	5911056	5911056	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggtgaccatgccagatgTcaccgagaccctgtactgca	10	7	10	14	2	1	3	1	1	0	2	1	4	1	3	4	1	3	2	4	1	1	1	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.1292T>A	p.Val431Asp	p.V431D	ENST00000379999	7/22	229	190	39	245	245	0	strelka-varscan-mutect	FBXO18,missense_variant,p.Val431Asp,ENST00000379999,NM_032807.4;FBXO18,missense_variant,p.Val306Asp,ENST00000397269,NM_001258452.1,NM_001258453.1;FBXO18,missense_variant,p.Val380Asp,ENST00000362091,NM_178150.2;FBXO18,downstream_gene_variant,,ENST00000470089,;FBXO18,downstream_gene_variant,,ENST00000462507,;FBXO18,downstream_gene_variant,,ENST00000469009,;FBXO18,upstream_gene_variant,,ENST00000460453,;FBXO18,downstream_gene_variant,,ENST00000494526,;	A	ENST00000379999	Transcript	missense_variant	1396/3702	1292/3285	431/1094	V/D	gTc/gAc		1		1	FBXO18	HGNC	HGNC:13620	protein_coding	YES	CCDS7073.1	ENSP00000369335	Q8NFZ0		UPI000019AB6F	NM_032807.4	deleterious(0)		7/22		hmmpanther:PTHR11070,hmmpanther:PTHR11070:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	38	5911056	5911056	T	A	1	0	0	0	0	1	0	0	0	5594	1667	58	4		4	FBXO18	10	5911056	Missense_Mutation	SNP	T	C3N-00169_TP		5911056	127886366	107	10065											
NMT2	0	.	GRCh38	chr10	15128444	15128444	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattttctggggtttagtGatcgatgccagtatctggaa	9	14	11	7	1	2	1	0	1	2	0	3	3	2	2	2	3	1	2	2	3	4	5	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.905C>A	p.Ser302Ter	p.S302*	ENST00000378165	8/12	161	146	15	98	98	0	strelka-varscan-mutect	NMT2,stop_gained,p.Ser302Ter,ENST00000378165,NM_004808.2;NMT2,stop_gained,p.Ser289Ter,ENST00000378150,NM_001308295.1;RPP38,intron_variant,,ENST00000451677,;NMT2,downstream_gene_variant,,ENST00000478580,;	T	ENST00000378165	Transcript	stop_gained	986/2907	905/1497	302/498	S/*	tCa/tAa		1		-1	NMT2	HGNC	HGNC:7858	protein_coding	YES	CCDS7109.1	ENSP00000367407	O60551		UPI0000130278	NM_004808.2			8/12		hmmpanther:PTHR11377,hmmpanther:PTHR11377:SF6,Gene3D:3.40.630.30,PIRSF_domain:PIRSF015892,Superfamily_domains:SSF55729																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	38	15128444	15128444	G	T	1	0	0	0	0	0	1	0	0	10545	1294	45	2		2	NMT2	10	15128444	Nonsense_Mutation	SNP	G	C3N-00169_TP	9217388	15128444	118668978	108	10066											
MRC1	0	.	GRCh38	chr10	17873805	17873805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacaccaaaacctgagcCaacaccagctcctcaagaca	18	3	4	16	0	1	2	1	1	0	1	2	2	2	2	5	0	5	1	5	0	5	0	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.2366C>A	p.Pro789Gln	p.P789Q	ENST00000569591	16/30	320	266	54	334	334	0	strelka-varscan-mutect	MRC1,missense_variant,p.Pro789Gln,ENST00000569591,NM_002438.3;	A	ENST00000569591	Transcript	missense_variant	2488/5198	2366/4371	789/1456	P/Q	cCa/cAa		1		1	MRC1	HGNC	HGNC:7228	protein_coding	YES	CCDS7123.2	ENSP00000455897	P22897		UPI000012EB9A	NM_002438.3	deleterious(0.01)		16/30		hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF73,Gene3D:3.10.100.10,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	38	17873805	17873805	C	A	1	0	0	0	0	1	0	0	0	9722	594	21	2		2	MRC1	10	17873805	Missense_Mutation	SNP	C	C3N-00169_TP	2745361	17873805	115923617	109	10067											
SLC39A12	0	.	GRCh38	chr10	18042792	18042792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatcctaggttggctttctCtcctgctcttggctatatat	5	18	8	10	0	2	1	0	1	2	0	5	1	4	1	2	3	1	4	2	3	4	7			C3N-00169_TP	C3N-00169_NB	C	C																c.2035C>T	p.Leu679Phe	p.L679F	ENST00000377369	13/13	201	172	29	200	200	0	strelka-varscan-mutect	SLC39A12,missense_variant,p.Leu679Phe,ENST00000377369,NM_001145195.1;SLC39A12,missense_variant,p.Leu678Phe,ENST00000377371,NM_001282733.1;SLC39A12,missense_variant,p.Leu642Phe,ENST00000377374,NM_152725.3;SLC39A12,missense_variant,p.Leu545Phe,ENST00000539911,NM_001282734.1;	T	ENST00000377369	Transcript	missense_variant	2308/2808	2035/2076	679/691	L/F	Ctc/Ttc	COSM5276747,COSM5276748	1		1	SLC39A12	HGNC	HGNC:20860	protein_coding	YES	CCDS44362.1	ENSP00000366586	Q504Y0		UPI00004044FC	NM_001145195.1	deleterious(0)		13/13		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191,Pfam_domain:PF02535											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	38	18042792	18042792	C	T	1	0	0	0	0	1	0	0	0	14893	913	32	3		3	SLC39A12	10	18042792	Missense_Mutation	SNP	C	C3N-00169_TP	168987	18042792	115754630	110	10068											
ANK3	0	.	GRCh38	chr10	60069405	60069405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttttttcctgatgagaCtttcactgggttatctttct	5	21	7	8	0	4	2	1	2	3	1	5	3	5	2	1	1	0	1	1	1	1	6	rs746447437		C3N-00169_TP	C3N-00169_NB	C	C																c.11476G>T	p.Val3826Phe	p.V3826F	ENST00000280772	37/44	127	93	34	118	118	0	strelka-varscan-mutect	ANK3,missense_variant,p.Val3826Phe,ENST00000280772,NM_020987.3;ANK3,intron_variant,,ENST00000373827,NM_001204403.1;ANK3,intron_variant,,ENST00000503366,NM_001204404.1;ANK3,intron_variant,,ENST00000610321,;ANK3,intron_variant,,ENST00000355288,NM_001149.3;ANK3,intron_variant,,ENST00000616444,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000610901,;ANK3,intron_variant,,ENST00000613207,;ANK3,intron_variant,,ENST00000511043,;ANK3,intron_variant,,ENST00000621739,;	A	ENST00000280772	Transcript	missense_variant	11668/16874	11476/13134	3826/4377	V/F	Gtc/Ttc	rs746447437	1		-1	ANK3	HGNC	HGNC:494	protein_coding	YES	CCDS7258.1	ENSP00000280772	Q12955		UPI0000141BA9	NM_020987.3	tolerated_low_confidence(0.06)		37/44		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF22																	MODERATE	1	SNV	1			1										PASS		rs746447437	.												A	3	1	38	60069405	60069405	C	A	1	0	0	0	0	1	0	0	0	722	565	20	2		2	ANK3	10	60069405	Missense_Mutation	SNP	C	C3N-00169_TP	42026613	60069405	73728017	111	10069											
CFAP58	0	.	GRCh38	chr10	104447712	104447712	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactaggaaaaggagaaactCtacatggaactaaagcacgt	18	6	9	8	1	1	1	0	0	1	1	1	4	1	3	0	3	4	1	0	3	8	3	rs148324034		C3N-00169_TP	C3N-00169_NB	C	C																c.2271C>G	p.=	p.L757L	ENST00000369704	16/18	105	83	22	141	141	0	strelka-varscan-mutect	CFAP58,synonymous_variant,p.=,ENST00000369704,NM_001008723.1;	G	ENST00000369704	Transcript	synonymous_variant	2405/3313	2271/2619	757/872	L	ctC/ctG	rs148324034	1		1	CFAP58	HGNC	HGNC:26676	protein_coding	YES	CCDS31282.1	ENSP00000358718	Q5T655		UPI0000160405	NM_001008723.1			16/18		hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF31,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs148324034	.												G	2	3	38	104447712	104447712	C	G	1	0	0	0	0	0	0	0	1	3027	900	32	4		4	CFAP58	10	104447712	Silent	SNP	C	C3N-00169_TP	44378307	104447712	29349710	112	10070											
CFAP46	0	.	GRCh38	chr10	132912761	132912761	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcctggactggaatcCagctgatgatcaggcctcgc	8	7	13	13	2	1	2	1	2	0	0	3	4	2	4	3	4	2	2	3	4	1	0	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.2393G>T	p.Trp798Leu	p.W798L	ENST00000368586	19/58	235	197	38	326	325	1	strelka-varscan-mutect	CFAP46,missense_variant,p.Trp798Leu,ENST00000368586,NM_001200049.2;CFAP46,non_coding_transcript_exon_variant,,ENST00000486104,;CFAP46,upstream_gene_variant,,ENST00000466834,;	A	ENST00000368586	Transcript	missense_variant	2494/8278	2393/8148	798/2715	W/L	tGg/tTg		1		-1	CFAP46	HGNC	HGNC:25247	protein_coding	YES	CCDS58101.1	ENSP00000357575	Q8IYW2		UPI0001B79116	NM_001200049.2	deleterious(0)		19/58		hmmpanther:PTHR15977,hmmpanther:PTHR15977:SF15																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	38	132912761	132912761	C	A	1	0	0	0	0	1	0	0	0	3021	595	21	2		2	CFAP46	10	132912761	Missense_Mutation	SNP	C	C3N-00169_TP	28465049	132912761	884661	113	10071											
B4GALNT4	0	.	GRCh38	chr11	376682	376682	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgccctgcagtggagcAgccgcccccaaaggtgtacg	7	4	13	17	4	0	0	0	0	0	0	0	1	0	1	5	2	4	3	5	2	2	1	novel		C3N-00169_TP	C3N-00169_NB	A	A																c.1559A>C	p.Gln520Pro	p.Q520P	ENST00000329962	14/20	54	42	12	102	102	0	strelka-varscan-mutect	B4GALNT4,missense_variant,p.Gln520Pro,ENST00000329962,NM_178537.4;B4GALNT4,upstream_gene_variant,,ENST00000534778,;B4GALNT4,upstream_gene_variant,,ENST00000526584,;B4GALNT4,downstream_gene_variant,,ENST00000524443,;B4GALNT4,downstream_gene_variant,,ENST00000530717,;	C	ENST00000329962	Transcript	missense_variant	1559/3444	1559/3120	520/1039	Q/P	cAg/cCg		1		1	B4GALNT4	HGNC	HGNC:26315	protein_coding	YES	CCDS7694.1	ENSP00000328277	Q76KP1		UPI00002326B6	NM_178537.4	tolerated(0.35)		14/20		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	38	376682	376682	A	C	1	0	0	0	0	1	0	0	0	1425	188	7	5		5	B4GALNT4	11	376682	Missense_Mutation	SNP	A	C3N-00169_TP		376682	134709940	114	10072											
OR51Q1	0	.	GRCh38	chr11	5422494	5422494	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagaatcagctctgaggcCtgttttgctcagtttttctt	6	17	9	9	1	4	2	2	1	2	1	4	2	4	2	1	1	2	5	1	1	2	6	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.294C>A	p.=	p.A98A	ENST00000300778	1/1	193	169	24	260	259	1	strelka-varscan-mutect	OR51Q1,synonymous_variant,p.=,ENST00000300778,NM_001004757.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	A	ENST00000300778	Transcript	synonymous_variant	384/1096	294/954	98/317	A	gcC/gcA		1		1	OR51Q1	HGNC	HGNC:14851	protein_coding	YES	CCDS31381.1	ENSP00000300778	Q8NH59		UPI0000041BDB	NM_001004757.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF84,Superfamily_domains:SSF81321																	LOW		SNV				1										PASS		rs1442941960	.												A	2	1	38	5422494	5422494	C	A	1	0	0	0	0	0	0	0	1	11178	668	24	2		2	OR51Q1	11	5422494	Silent	SNP	C	C3N-00169_TP	5045812	5422494	129664128	115	10073											
PIK3C2A	0	.	GRCh38	chr11	17119862	17119862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatgagtaagttttggcaaGattaacccatttccagtttg	12	14	8	7	0	0	2	0	1	0	1	1	2	1	2	2	1	1	4	2	1	4	6	rs761682657		C3N-00169_TP	C3N-00169_NB	G	G																c.2770C>T	p.Leu924Phe	p.L924F	ENST00000265970	15/32	173	152	21	150	150	0	strelka-varscan-mutect	PIK3C2A,missense_variant,p.Leu924Phe,ENST00000265970,NM_001321378.1,NM_002645.2;RNU6-593P,upstream_gene_variant,,ENST00000364716,;PIK3C2A,intron_variant,,ENST00000531428,;	A	ENST00000265970	Transcript	missense_variant	2770/8227	2770/5061	924/1686	L/F	Ctt/Ttt	rs761682657	1		-1	PIK3C2A	HGNC	HGNC:8971	protein_coding	YES	CCDS7824.1	ENSP00000265970	O00443	L7RRS0	UPI000013D6B3	NM_001321378.1,NM_002645.2	deleterious(0)		15/32		Gene3D:1.25.40.70,Pfam_domain:PF00613,PROSITE_profiles:PS51545,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF28,SMART_domains:SM00145,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs761682657	.												A	3	1	38	17119862	17119862	G	A	1	0	0	0	0	1	0	0	0	12004	942	33	3		3	PIK3C2A	11	17119862	Missense_Mutation	SNP	G	C3N-00169_TP	11697368	17119862	117966760	116	10074											
KIAA1549L	0	.	GRCh38	chr11	33543392	33543392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccggtagtgtctcatctcCcatcattacagcaccaagga	11	9	7	14	1	3	0	2	0	2	0	5	1	3	1	3	2	2	2	3	2	3	2	rs755961188		C3N-00169_TP	C3N-00169_NB	C	C																c.938C>T	p.Pro313Leu	p.P313L	ENST00000321505	1/20	183	154	29	233	233	0	strelka-varscan-mutect	KIAA1549L,missense_variant,p.Pro313Leu,ENST00000321505,NM_012194.2;KIAA1549L,missense_variant,p.Pro313Leu,ENST00000265654,;KIAA1549L,intron_variant,,ENST00000526400,;	T	ENST00000321505	Transcript	missense_variant	1118/11678	938/5550	313/1849	P/L	cCc/cTc	rs755961188	1		1	KIAA1549L	HGNC	HGNC:24836	protein_coding	YES	CCDS44565.2	ENSP00000315295	Q6ZVL6		UPI0000E59322	NM_012194.2	tolerated_low_confidence(0.09)		1/20		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3																	MODERATE	1	SNV	1			1										PASS		rs755961188	.												T	3	4	38	33543392	33543392	C	T	1	0	0	0	0	1	0	0	0	8121	623	22	3		3	KIAA1549L	11	33543392	Missense_Mutation	SNP	C	C3N-00169_TP	16423530	33543392	101543230	117	10075											
TRAF6	0	.	GRCh38	chr11	36490251	36490251	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcatgcacagtttgtaccCgggtttgccagtgtagaatc	8	11	12	10	2	0	1	0	0	0	1	1	1	0	1	2	1	3	6	2	1	3	4			C3N-00169_TP	C3N-00169_NB	C	C																c.1156G>T	p.Gly386Trp	p.G386W	ENST00000526995	7/7	177	159	18	222	222	0	strelka-varscan-mutect	TRAF6,missense_variant,p.Gly386Trp,ENST00000526995,NM_004620.3;TRAF6,missense_variant,p.Gly386Trp,ENST00000348124,NM_145803.2;TRAF6,downstream_gene_variant,,ENST00000529150,;	A	ENST00000526995	Transcript	missense_variant	1403/4627	1156/1569	386/522	G/W	Ggg/Tgg	COSM5473124	1		-1	TRAF6	HGNC	HGNC:12036	protein_coding	YES	CCDS7901.1	ENSP00000433623	Q9Y4K3		UPI000000D924	NM_004620.3	deleterious(0)		7/7		PROSITE_profiles:PS50144,hmmpanther:PTHR10131:SF85,hmmpanther:PTHR10131,Gene3D:2.60.210.10,PIRSF_domain:PIRSF015614,SMART_domains:SM00061,Superfamily_domains:SSF49599											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	38	36490251	36490251	C	A	1	0	0	0	0	1	0	0	0	16928	652	23	1		1	TRAF6	11	36490251	Missense_Mutation	SNP	C	C3N-00169_TP	2946859	36490251	98596371	118	10076											
OR4C3	0	.	GRCh38	chr11	48325478	48325478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggcttgggggcttcctgCattcattggttcagctcctc	3	15	11	12	0	2	0	2	0	0	0	5	0	4	0	2	4	2	5	2	4	0	6	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.538C>A	p.His180Asn	p.H180N	ENST00000319856	1/1	106	77	29	107	107	0	strelka-varscan-mutect	OR4C3,missense_variant,p.His180Asn,ENST00000319856,NM_001004702.1;OR4C3,missense_variant,p.His43Asn,ENST00000611380,;	A	ENST00000319856	Transcript	missense_variant	559/1036	538/990	180/329	H/N	Cat/Aat		1		1	OR4C3	HGNC	HGNC:14697	protein_coding	YES	CCDS31489.1	ENSP00000321419	Q8NH37	A0A126GVR6	UPI0000061EA2	NM_001004702.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF162,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1338882432	.												A	3	1	38	48325478	48325478	C	A	1	0	0	0	0	1	0	0	0	11126	710	25	2		2	OR4C3	11	48325478	Missense_Mutation	SNP	C	C3N-00169_TP	11835227	48325478	86761144	119	10077											
OR4A16	0	.	GRCh38	chr11	55343560	55343560	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgatggcctatgatcgCtatgtggctatctctaagcc	7	13	12	9	1	1	2	0	2	1	0	3	2	1	2	2	3	1	2	2	3	4	4	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.360C>T	p.=	p.R120R	ENST00000314721	1/1	208	169	39	224	224	0	strelka-varscan-mutect	OR4A16,synonymous_variant,p.=,ENST00000314721,NM_001005274.1;	T	ENST00000314721	Transcript	synonymous_variant	360/987	360/987	120/328	R	cgC/cgT		1		1	OR4A16	HGNC	HGNC:15153	protein_coding	YES	CCDS31499.1	ENSP00000325128	Q8NH70	A0A126GW87	UPI0000061EB2	NM_001005274.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF355,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	38	55343560	55343560	C	T	1	0	0	0	0	0	0	0	1	11118	784	28	3		3	OR4A16	11	55343560	Silent	SNP	C	C3N-00169_TP	7018082	55343560	79743062	120	10078											
TRIM51	0	.	GRCh38	chr11	55885450	55885450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattctggaatcttgcaaGtcttccagagggcactcacc	10	11	9	11	0	4	2	1	1	3	1	5	3	5	3	2	2	1	2	2	2	3	3	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.22G>T	p.Val8Phe	p.V8F	ENST00000449290	2/7	216	177	39	210	210	0	strelka-varscan-mutect	TRIM51,missense_variant,p.Val8Phe,ENST00000449290,NM_032681.3;TRIM51,upstream_gene_variant,,ENST00000244891,;RP11-738O11.9,downstream_gene_variant,,ENST00000533247,;	T	ENST00000449290	Transcript	missense_variant	114/1629	22/1359	8/452	V/F	Gtc/Ttc		1		1	TRIM51	HGNC	HGNC:19023	protein_coding	YES		ENSP00000395086	Q9BSJ1		UPI0000DFFA1E	NM_032681.3	deleterious(0.04)		2/7		hmmpanther:PTHR24103:SF302,hmmpanther:PTHR24103,Gene3D:3.30.40.10,Superfamily_domains:SSF57850																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	38	55885450	55885450	G	T	1	0	0	0	0	1	0	0	0	17019	1029	36	2		2	TRIM51	11	55885450	Missense_Mutation	SNP	G	C3N-00169_TP	541890	55885450	79201172	121	10079											
OR8I2	0	.	GRCh38	chr11	56093802	56093802	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtctgggtgataagcagTttggcgttctgtgattccag	6	15	13	7	1	3	2	0	2	3	0	4	2	4	2	1	2	1	3	1	2	1	4	rs138372442,rs145832034		C3N-00169_TP	C3N-00169_NB	T	T																c.495T>C	p.=	p.S165S	ENST00000302124	1/1	263	242	21	303	303	0	strelka-varscan-mutect	OR8I2,synonymous_variant,p.=,ENST00000302124,NM_001003750.1;OR8I4P,downstream_gene_variant,,ENST00000526965,;	C	ENST00000302124	Transcript	synonymous_variant	495/933	495/933	165/310	S	agT/agC	rs138372442,rs145832034	1		1	OR8I2	HGNC	HGNC:15310	protein_coding	YES	CCDS31517.1	ENSP00000303864	Q8N0Y5		UPI0000041D16	NM_001003750.1			1/1		Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs145832034	.												C	2	2	38	56093802	56093802	T	C	1	0	0	0	0	0	0	0	1	11308	1722	60	5		5	OR8I2	11	56093802	Silent	SNP	T	C3N-00169_TP	208352	56093802	78992820	122	10080											
TMEM151A	0	.	GRCh38	chr11	66294406	66294406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacgctgctcatccacGcctgcggggccgtggtggcc	3	8	13	17	4	2	0	2	0	0	0	4	0	4	0	5	4	2	2	5	4	0	0	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.160G>C	p.Ala54Pro	p.A54P	ENST00000327259	2/2	207	180	27	233	233	0	strelka-varscan-mutect	TMEM151A,missense_variant,p.Ala54Pro,ENST00000327259,NM_153266.3;	C	ENST00000327259	Transcript	missense_variant	304/2562	160/1407	54/468	A/P	Gcc/Ccc		1		1	TMEM151A	HGNC	HGNC:28497	protein_coding	YES	CCDS8133.1	ENSP00000326244	Q8N4L1		UPI0000070F9B	NM_153266.3	deleterious(0.01)		2/2		Pfam_domain:PF14857,hmmpanther:PTHR31893,hmmpanther:PTHR31893:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	38	66294406	66294406	G	C	1	0	0	0	0	1	0	0	0	16512	1087	38	4		4	TMEM151A	11	66294406	Missense_Mutation	SNP	G	C3N-00169_TP	10200604	66294406	68792216	123	10081											
ALDH3B2	0	.	GRCh38	chr11	67665433	67665433	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgccatagaaacgggtgatGgtgctctgcagggcgggcag	8	7	17	9	3	1	2	0	1	1	1	2	2	1	2	1	4	3	3	1	4	2	1	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.558C>A	p.=	p.T186T	ENST00000349015	7/10	201	167	34	231	230	1	strelka-varscan-mutect	ALDH3B2,synonymous_variant,p.=,ENST00000349015,NM_000695.3;ALDH3B2,synonymous_variant,p.=,ENST00000530069,NM_001031615.1;ALDH3B2,downstream_gene_variant,,ENST00000525827,;ALDH3B2,downstream_gene_variant,,ENST00000528756,;ALDH3B2,upstream_gene_variant,,ENST00000531248,;ALDH3B2,downstream_gene_variant,,ENST00000531881,;ALDH3B2,downstream_gene_variant,,ENST00000533962,;ALDH3B2,non_coding_transcript_exon_variant,,ENST00000534425,;	T	ENST00000349015	Transcript	synonymous_variant	997/2649	558/1158	186/385	T	acC/acA		1		-1	ALDH3B2	HGNC	HGNC:411	protein_coding	YES	CCDS31622.1	ENSP00000255084	P48448		UPI000013CE83	NM_000695.3			7/10		hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF179,Pfam_domain:PF00171,Gene3D:3.40.309.10,Superfamily_domains:SSF53720																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	38	67665433	67665433	G	T	1	0	0	0	0	0	0	0	1	600	1335	47	2		2	ALDH3B2	11	67665433	Silent	SNP	G	C3N-00169_TP	1371027	67665433	67421189	124	10082											
NEU3	0	.	GRCh38	chr11	75006262	75006262	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctcaaccagacccccttgGaggctgcctgctggtcccgc	6	8	10	17	1	1	1	1	0	1	1	3	2	2	2	5	3	3	2	5	3	1	1	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.1156G>T	p.Glu386Ter	p.E386*	ENST00000294064	3/3	219	184	35	238	237	1	strelka-varscan-mutect	NEU3,stop_gained,p.Glu386Ter,ENST00000294064,NM_006656.5;NEU3,stop_gained,p.Glu386Ter,ENST00000531509,;NEU3,3_prime_UTR_variant,,ENST00000532963,;NEU3,intron_variant,,ENST00000529024,;NEU3,downstream_gene_variant,,ENST00000531619,;	T	ENST00000294064	Transcript	stop_gained	2083/6728	1156/1386	386/461	E/*	Gag/Tag		1		1	NEU3	HGNC	HGNC:7760	protein_coding	YES	CCDS44682.1	ENSP00000294064	Q9UQ49	A0A024R5N6	UPI000015F481	NM_006656.5			3/3		hmmpanther:PTHR10628,hmmpanther:PTHR10628:SF23,Pfam_domain:PF13088,Gene3D:2.120.10.10,Superfamily_domains:SSF50939																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	38	75006262	75006262	G	T	1	0	0	0	0	0	1	0	0	10378	1175	41	2		2	NEU3	11	75006262	Nonsense_Mutation	SNP	G	C3N-00169_TP	7340829	75006262	60080360	125	10083											
ALG8	0	.	GRCh38	chr11	78101041	78101041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaagcatatgtgatgcCtactgcacaatacactgagg	14	8	9	10	0	0	2	0	2	0	0	0	3	0	2	2	1	6	2	2	1	6	3	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1504G>A	p.Gly502Ser	p.G502S	ENST00000299626	13/13	401	316	85	320	320	0	strelka-varscan-mutect	ALG8,missense_variant,p.Gly502Ser,ENST00000299626,NM_024079.4;ALG8,missense_variant,p.Gly204Ser,ENST00000530608,;ALG8,missense_variant,p.Gly173Ser,ENST00000526849,;ALG8,3_prime_UTR_variant,,ENST00000376156,NM_001007027.2;ALG8,3_prime_UTR_variant,,ENST00000525783,;ALG8,downstream_gene_variant,,ENST00000615266,;ALG8,downstream_gene_variant,,ENST00000532306,;ALG8,downstream_gene_variant,,ENST00000532552,;ALG8,3_prime_UTR_variant,,ENST00000526737,;ALG8,non_coding_transcript_exon_variant,,ENST00000531213,;	T	ENST00000299626	Transcript	missense_variant	1576/1675	1504/1581	502/526	G/S	Ggc/Agc		1		-1	ALG8	HGNC	HGNC:23161	protein_coding	YES	CCDS8258.1	ENSP00000299626	Q9BVK2	A0A024R5K5	UPI000013E5C8	NM_024079.4	deleterious(0.01)		13/13		Pfam_domain:PF03155,hmmpanther:PTHR12413,hmmpanther:PTHR12413:SF2,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	78101041	78101041	C	T	1	0	0	0	0	1	0	0	0	623	681	24	3		3	ALG8	11	78101041	Missense_Mutation	SNP	C	C3N-00169_TP	3094779	78101041	56985581	126	10084											
FAT3	0	.	GRCh38	chr11	92355038	92355038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcaagtgcgctattctttgGtcaatgactataatgggaga	11	13	11	6	1	3	2	2	1	1	1	3	3	3	2	0	2	1	1	0	2	5	5	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.2476G>T	p.Val826Phe	p.V826F	ENST00000525166	1/27	159	122	37	152	152	0	strelka-varscan-mutect	FAT3,missense_variant,p.Val976Phe,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Val826Phe,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000528921,;	T	ENST00000525166	Transcript	missense_variant	2498/18699	2476/13320	826/4439	V/F	Gtc/Ttc		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		tolerated(0.08)		1/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	38	92355038	92355038	G	T	1	0	0	0	0	1	0	0	0	5551	1261	44	2		2	FAT3	11	92355038	Missense_Mutation	SNP	G	C3N-00169_TP	14253997	92355038	42731584	127	10085											
FAT3	0	.	GRCh38	chr11	92859171	92859171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacggtcttttcagggcacaCttctctcagctttgctggaa	8	13	9	11	1	4	0	2	0	2	0	5	1	4	1	0	3	3	3	0	3	2	4	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.11057C>A	p.Thr3686Asn	p.T3686N	ENST00000525166	20/27	58	42	16	69	69	0	strelka-varscan-mutect	FAT3,missense_variant,p.Thr3836Asn,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Thr3686Asn,ENST00000525166,;FAT3,missense_variant,p.Thr171Asn,ENST00000533797,;	A	ENST00000525166	Transcript	missense_variant	11079/18699	11057/13320	3686/4439	T/N	aCt/aAt		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		deleterious(0.01)		20/27		PROSITE_profiles:PS50025,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.120.200,Superfamily_domains:SSF49899																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	38	92859171	92859171	C	A	1	0	0	0	0	1	0	0	0	5551	565	20	2		2	FAT3	11	92859171	Missense_Mutation	SNP	C	C3N-00169_TP	504133	92859171	42227451	128	10086											
COLCA2	0	.	GRCh38	chr11	111308295	111308295	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatctgctactgcgcatCgtgtgaggcagaggacttgg	7	10	13	11	2	1	2	0	1	1	1	3	3	2	3	1	3	3	3	1	3	1	2			C3N-00169_TP	C3N-00169_NB	C	C																c.614C>A	p.Ser205Ter	p.S205*	ENST00000610738	5/5	337	282	55	337	337	0	strelka-varscan-mutect	COLCA2,stop_gained,p.Ser108Ter,ENST00000398035,NM_001136105.2;COLCA2,stop_gained,p.Ser108Ter,ENST00000526216,;COLCA2,stop_gained,p.Ser108Ter,ENST00000614153,NM_001271457.1;COLCA2,stop_gained,p.Ser205Ter,ENST00000610738,NM_001271458.1;COLCA2,downstream_gene_variant,,ENST00000528846,;COLCA1,upstream_gene_variant,,ENST00000620864,;	A	ENST00000610738	Transcript	stop_gained	650/1088	614/756	205/251	S/*	tCg/tAg	COSM3985919	1		1	COLCA2	HGNC	HGNC:26978	protein_coding	YES	CCDS73378.1	ENSP00000484135	A8K830		UPI0002842559	NM_001271458.1			5/5		hmmpanther:PTHR36689											1						HIGH	1	SNV	1		1	1										PASS		rs1197634053	.												A	4	1	38	111308295	111308295	C	A	1	0	0	0	0	0	1	0	0	3499	893	31	1		1	COLCA2	11	111308295	Nonsense_Mutation	SNP	C	C3N-00169_TP	18449124	111308295	23778327	129	10087											
KMT2A	0	.	GRCh38	chr11	118472453	118472453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcggcggtttatagaggatGaggattatgaccctccaatt	10	12	11	8	2	0	3	0	2	0	1	2	5	1	5	2	4	0	1	2	4	4	5	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.1294G>A	p.Glu432Lys	p.E432K	ENST00000534358	3/36	124	113	11	164	164	0	strelka-varscan-mutect	KMT2A,missense_variant,p.Glu432Lys,ENST00000534358,NM_001197104.1;KMT2A,missense_variant,p.Glu432Lys,ENST00000389506,NM_005933.3;KMT2A,missense_variant,p.Glu465Lys,ENST00000531904,;KMT2A,intron_variant,,ENST00000533790,;KMT2A,intron_variant,,ENST00000527869,;	A	ENST00000534358	Transcript	missense_variant	1317/16602	1294/11919	432/3972	E/K	Gag/Aag		1		1	KMT2A	HGNC	HGNC:7132	protein_coding	YES	CCDS55791.1	ENSP00000436786	Q03164		UPI0001E5E732	NM_001197104.1	deleterious_low_confidence(0.04)		3/36		PIRSF_domain:PIRSF010354																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	38	118472453	118472453	G	A	1	0	0	0	0	1	0	0	0	8295	1291	45	3		3	KMT2A	11	118472453	Missense_Mutation	SNP	G	C3N-00169_TP	7164158	118472453	16614169	130	10088											
VWA5A	0	.	GRCh38	chr11	124136217	124136217	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtctgtctgctaaaaTgctttccccagaacagactg	9	12	8	12	0	2	2	0	0	2	2	4	2	4	2	3	1	3	2	3	1	3	2	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.1448T>A	p.Met483Lys	p.M483K	ENST00000456829	13/19	179	163	16	156	156	0	strelka-varscan-mutect	VWA5A,missense_variant,p.Met483Lys,ENST00000456829,NM_001130142.1;VWA5A,missense_variant,p.Met483Lys,ENST00000392748,NM_014622.4;	A	ENST00000456829	Transcript	missense_variant	1699/4388	1448/2361	483/786	M/K	aTg/aAg		1		1	VWA5A	HGNC	HGNC:6658	protein_coding	YES	CCDS8444.1	ENSP00000407726	O00534	A0A024R3H3	UPI0000158B80	NM_001130142.1	tolerated(0.12)		13/19		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF100																	MODERATE	1	SNV	1			1										PASS		rs1201824936	.												A	3	1	38	124136217	124136217	T	A	1	0	0	0	0	1	0	0	0	17796	1464	51	4		4	VWA5A	11	124136217	Missense_Mutation	SNP	T	C3N-00169_TP	5663764	124136217	10950405	131	10089											
SNX19	0	.	GRCh38	chr11	130906133	130906133	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catggatagagtctcagactCctaagaaatagtcagtggca	14	9	10	8	0	2	3	2	0	1	3	4	4	3	4	1	2	0	1	1	2	4	3	rs756176482		C3N-00169_TP	C3N-00169_NB	C	C																c.2263G>T	p.Glu755Ter	p.E755*	ENST00000265909	7/11	81	61	20	95	95	0	strelka-varscan-mutect	SNX19,stop_gained,p.Glu755Ter,ENST00000265909,NM_014758.2;SNX19,stop_gained,p.Glu135Ter,ENST00000530356,;SNX19,stop_gained,p.Glu135Ter,ENST00000528555,NM_001301089.1;SNX19,splice_region_variant,,ENST00000534726,;SNX19,intron_variant,,ENST00000533214,;SNX19,splice_region_variant,,ENST00000533318,;SNX19,splice_region_variant,,ENST00000524460,;SNX19,upstream_gene_variant,,ENST00000526579,;SNX19,non_coding_transcript_exon_variant,,ENST00000527451,;SNX19,downstream_gene_variant,,ENST00000531608,;	A	ENST00000265909	Transcript	stop_gained,splice_region_variant	2833/6535	2263/2979	755/992	E/*	Gag/Tag	rs756176482	1		-1	SNX19	HGNC	HGNC:21532	protein_coding	YES	CCDS31721.1	ENSP00000265909	Q92543		UPI000013D6A5	NM_014758.2			7/11		hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF31																	HIGH	1	SNV	1			1										PASS		rs756176482	.												A	4	1	38	130906133	130906133	C	A	1	0	0	0	0	0	1	0	0	15211	869	30	2		2	SNX19	11	130906133	Nonsense_Mutation	SNP	C	C3N-00169_TP	6769916	130906133	4180489	132	10090											
NTM	0	.	GRCh38	chr11	132307799	132307799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtggccgcgcccgtggtaCggagagtaaaggtcaccgtg	8	6	16	11	6	1	1	1	0	0	1	1	2	1	1	3	4	1	2	3	4	3	2			C3N-00169_TP	C3N-00169_NB	C	C																c.637C>T	p.Arg213Trp	p.R213W	ENST00000425719	4/8	198	168	30	203	203	0	strelka-varscan-mutect	NTM,missense_variant,p.Arg213Trp,ENST00000374786,NM_016522.2;NTM,missense_variant,p.Arg213Trp,ENST00000374791,NM_001048209.1;NTM,missense_variant,p.Arg37Trp,ENST00000427481,;NTM,missense_variant,p.Arg37Trp,ENST00000539799,;NTM,missense_variant,p.Arg213Trp,ENST00000425719,NM_001144058.1;NTM,missense_variant,p.Arg213Trp,ENST00000374784,NM_001144059.1;NTM,upstream_gene_variant,,ENST00000457381,;NTM,downstream_gene_variant,,ENST00000550167,;NTM,non_coding_transcript_exon_variant,,ENST00000474900,;NTM,non_coding_transcript_exon_variant,,ENST00000467255,;NTM,non_coding_transcript_exon_variant,,ENST00000496094,;NTM,non_coding_transcript_exon_variant,,ENST00000498764,;NTM,non_coding_transcript_exon_variant,,ENST00000490356,;NTM,downstream_gene_variant,,ENST00000482316,;	T	ENST00000425719	Transcript	missense_variant	657/1607	637/1068	213/355	R/W	Cgg/Tgg	COSM288344,COSM288345,COSM3782594,COSM3782595	1		1	NTM	HGNC	HGNC:17941	protein_coding	YES	CCDS44777.1	ENSP00000396722	Q9P121		UPI00001A58B9	NM_001144058.1	deleterious(0)		4/8		PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF116,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs951593215	.												T	3	4	38	132307799	132307799	C	T	1	0	0	0	0	1	0	0	0	10763	527	19	1		1	NTM	11	132307799	Missense_Mutation	SNP	C	C3N-00169_TP	1401666	132307799	2778823	133	10091											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3N-00169_TP	C3N-00169_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	243	174	69	324	324	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												A	3	1	38	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	C3N-00169_TP		25245351	108029958	134	10092											
SCN8A	0	.	GRCh38	chr12	51762595	51762595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggttggaacatttttgaCggatttattgtctccctcag	9	15	10	7	1	2	1	1	1	1	0	3	4	2	3	1	3	1	1	1	3	3	6	rs773865400		C3N-00169_TP	C3N-00169_NB	C	C																c.2463C>T	p.=	p.D821D	ENST00000354534	15/27	201	156	45	215	215	0	strelka-varscan-mutect	SCN8A,synonymous_variant,p.=,ENST00000354534,NM_014191.3;SCN8A,synonymous_variant,p.=,ENST00000545061,NM_001177984.2;SCN8A,synonymous_variant,p.=,ENST00000599343,;SCN8A,synonymous_variant,p.=,ENST00000627620,;SCN8A,synonymous_variant,p.=,ENST00000355133,;SCN8A,synonymous_variant,p.=,ENST00000636945,;SCN8A,3_prime_UTR_variant,,ENST00000637709,;SCN8A,non_coding_transcript_exon_variant,,ENST00000550891,;	T	ENST00000354534	Transcript	synonymous_variant	2641/11556	2463/5943	821/1980	D	gaC/gaT	rs773865400,COSM4042732,COSM4042733	1		1	SCN8A	HGNC	HGNC:10596	protein_coding	YES	CCDS44891.1	ENSP00000346534	Q9UQD0		UPI000006FD85	NM_014191.3			15/27		hmmpanther:PTHR10037:SF23,hmmpanther:PTHR10037,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs773865400	.												T	2	4	38	51762595	51762595	C	T	1	0	0	0	0	0	0	0	1	14193	535	19	1		1	SCN8A	12	51762595	Silent	SNP	C	C3N-00169_TP	26517244	51762595	81512714	135	10093											
KRT75	0	.	GRCh38	chr12	52431635	52431635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcatataggcagcatctaCgtcctggaatgacagcgcag	11	9	11	10	2	2	1	1	1	1	0	3	2	3	2	1	2	3	4	1	2	4	4	rs769201202		C3N-00169_TP	C3N-00169_NB	C	C																c.778G>T	p.Val260Leu	p.V260L	ENST00000252245	4/9	141	109	32	205	205	0	strelka-varscan-mutect	KRT75,missense_variant,p.Val260Leu,ENST00000252245,NM_004693.2;RP11-1020M18.10,downstream_gene_variant,,ENST00000548135,;	A	ENST00000252245	Transcript	missense_variant	999/2324	778/1656	260/551	V/L	Gta/Tta	rs769201202	1		-1	KRT75	HGNC	HGNC:24431	protein_coding	YES	CCDS8827.1	ENSP00000252245	O95678		UPI000013CD4E	NM_004693.2	deleterious(0.02)		4/9		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF200,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		rs769201202	.												A	3	1	38	52431635	52431635	C	A	1	0	0	0	0	1	0	0	0	8370	550	19	1		1	KRT75	12	52431635	Missense_Mutation	SNP	C	C3N-00169_TP	669040	52431635	80843674	136	10094											
NTS	0	.	GRCh38	chr12	85878483	85878483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaaggaaacttcctactGctttagatggctttagcttg	11	13	9	8	0	0	2	0	0	0	2	1	3	1	3	1	2	4	3	1	2	6	7	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.274G>T	p.Ala92Ser	p.A92S	ENST00000256010	3/4	81	58	23	133	132	1	strelka-varscan-mutect	NTS,missense_variant,p.Ala92Ser,ENST00000256010,NM_006183.4;NTS,intron_variant,,ENST00000551529,;NTS,non_coding_transcript_exon_variant,,ENST00000550879,;	T	ENST00000256010	Transcript	missense_variant	381/1237	274/513	92/170	A/S	Gct/Tct		1		1	NTS	HGNC	HGNC:8038	protein_coding	YES	CCDS9029.1	ENSP00000256010	P30990	Q6FH20	UPI0000000CAD	NM_006183.4	tolerated(0.52)		3/4		PD016590,Pfam_domain:PF07421,Prints_domain:PR01668,hmmpanther:PTHR15356,hmmpanther:PTHR15356:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	85878483	85878483	G	T	1	0	0	0	0	1	0	0	0	10775	1319	46	2		2	NTS	12	85878483	Missense_Mutation	SNP	G	C3N-00169_TP	33446848	85878483	47396826	137	10095											
DCN	0	.	GRCh38	chr12	91172811	91172811	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtaaagagtctacaaagtAtaaggcagtttgttgtgtag	13	13	12	3	0	1	1	0	0	1	1	1	1	1	1	0	1	1	6	0	1	7	7	novel		C3N-00169_TP	C3N-00169_NB	A	A																c.269T>G	p.Ile90Arg	p.I90R	ENST00000546745	3/3	96	75	21	99	99	0	strelka-varscan-mutect	DCN,missense_variant,p.Ile90Arg,ENST00000546745,;DCN,missense_variant,p.Ile90Arg,ENST00000550099,;DCN,intron_variant,,ENST00000052754,NM_001920.3;DCN,intron_variant,,ENST00000393155,NM_133503.2;DCN,intron_variant,,ENST00000552962,;DCN,intron_variant,,ENST00000425043,NM_133505.2;DCN,intron_variant,,ENST00000549513,;DCN,intron_variant,,ENST00000547568,;DCN,intron_variant,,ENST00000420120,NM_133504.2;DCN,intron_variant,,ENST00000547937,;DCN,intron_variant,,ENST00000546391,;DCN,intron_variant,,ENST00000552145,;DCN,intron_variant,,ENST00000550563,;DCN,intron_variant,,ENST00000546370,;DCN,intron_variant,,ENST00000441303,NM_133506.2;DCN,intron_variant,,ENST00000456569,NM_133507.2;DCN,downstream_gene_variant,,ENST00000551354,;	C	ENST00000546745	Transcript	missense_variant	357/1026	269/297	90/98	I/R	aTa/aGa		1		-1	DCN	HGNC	HGNC:2705	protein_coding			ENSP00000448857		F8VU58	UPI0000E59883				3/3																			MODERATE		SNV	3			1										PASS		rs886187214	.												C	3	2	38	91172811	91172811	A	C	1	0	0	0	0	1	0	0	0	4099	449	16	5		5	DCN	12	91172811	Missense_Mutation	SNP	A	C3N-00169_TP	5294328	91172811	42102498	138	10096											
ACACB	0	.	GRCh38	chr12	109237178	109237178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctacagtttgcagaagatcGcatttaccgtcacttggaac	11	11	8	11	2	1	2	1	0	0	2	2	3	1	3	2	1	4	3	2	1	4	5	rs754289848		C3N-00169_TP	C3N-00169_NB	G	G																c.4460G>A	p.Arg1487His	p.R1487H	ENST00000338432	34/53	230	171	59	356	356	0	strelka-varscan-mutect	ACACB,missense_variant,p.Arg1487His,ENST00000338432,;ACACB,missense_variant,p.Arg1487His,ENST00000377848,NM_001093.3;ACACB,missense_variant,p.Arg153His,ENST00000377854,;ACACB,missense_variant,p.Arg154His,ENST00000538526,;ACACB,upstream_gene_variant,,ENST00000537347,;ACACB,downstream_gene_variant,,ENST00000542524,;ACACB,upstream_gene_variant,,ENST00000534852,;	A	ENST00000338432	Transcript	missense_variant	4579/9360	4460/7377	1487/2458	R/H	cGc/cAc	rs754289848,COSM1181490,COSM1181491	1		1	ACACB	HGNC	HGNC:85	protein_coding	YES	CCDS31898.1	ENSP00000341044	O00763		UPI0000DBEEFB		deleterious(0.03)		34/53		hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF94,Pfam_domain:PF08326											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs754289848	.												A	3	1	38	109237178	109237178	G	A	1	0	0	0	0	1	0	0	0	150	1087	38	1		1	ACACB	12	109237178	Missense_Mutation	SNP	G	C3N-00169_TP	18064367	109237178	24038131	139	10097											
AC127070.1	0	.	GRCh38	chr12	132786367	132786367	+	Frame_Shift_Del	DEL	C	C	-																															ccaggctgctgtcactgctgCcaccctgggctcggagctgg																								rs756151463		C3N-00169_TP	C3N-00169_NB	C	C																c.3095delG	p.Gly1032AlafsTer38	p.G1032Afs*38	ENST00000204726	15/24	63	43	20	98	98	0	sindel-varindel-pindel	GOLGA3,frameshift_variant,p.Gly1032AlafsTer38,ENST00000204726,NM_005895.3;GOLGA3,frameshift_variant,p.Gly1032AlafsTer38,ENST00000450791,;GOLGA3,frameshift_variant,p.Gly1032AlafsTer38,ENST00000456883,;AC127070.1,frameshift_variant,p.Gly1032AlafsTer38,ENST00000545875,NM_001172557.1;GOLGA3,non_coding_transcript_exon_variant,,ENST00000537452,;	-	ENST00000204726	Transcript	frameshift_variant	3654/9252	3095/4497	1032/1498	G/X	gGc/gc	rs756151463	1		-1	GOLGA3	HGNC	HGNC:4426	protein_coding	YES	CCDS9281.1	ENSP00000204726	Q08378		UPI0000190979	NM_005895.3			15/24		hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF26																	HIGH		deletion	5			1										PASS		.	.												-	7	5	38	132786367	132786367	C	-	1	0	1	0	1	0	0	0	0	142	739	26	0		0	AC127070.1	12	132786367	Frame_Shift_Del	DEL	C	C3N-00169_TP	23549189	132786367	488942	140	10098											
RNF31	0	.	GRCh38	chr14	24147732	24147732	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagaggagcgggccttcctgGtggcccgcgaggagctggcg	6	5	19	11	4	0	1	0	0	0	1	1	4	1	3	3	6	2	1	3	6	1	1	rs370135028		C3N-00169_TP	C3N-00169_NB	G	G																c.34G>C	p.Val12Leu	p.V12L	ENST00000324103	1/21	81	62	19	106	106	0	strelka-varscan-mutect	RNF31,missense_variant,p.Val12Leu,ENST00000324103,NM_017999.4;RNF31,missense_variant,p.Val12Leu,ENST00000557991,;RNF31,missense_variant,p.Val12Leu,ENST00000560875,;RNF31,intron_variant,,ENST00000559275,NM_001310332.1;RNF31,intron_variant,,ENST00000559533,;RNF31,intron_variant,,ENST00000560071,;RNF31,intron_variant,,ENST00000559308,;RNF31,intron_variant,,ENST00000559260,;RNF31,upstream_gene_variant,,ENST00000560787,;PSME2,upstream_gene_variant,,ENST00000216802,NM_002818.2;PSME2,upstream_gene_variant,,ENST00000615264,;PSME2,upstream_gene_variant,,ENST00000560410,;PSME2,upstream_gene_variant,,ENST00000559056,;PSME2,upstream_gene_variant,,ENST00000630027,;PSME2,upstream_gene_variant,,ENST00000620784,;RNF31,non_coding_transcript_exon_variant,,ENST00000559882,;RNF31,intron_variant,,ENST00000557878,;RNF31,intron_variant,,ENST00000559438,;RNF31,intron_variant,,ENST00000558634,;PSME2,upstream_gene_variant,,ENST00000471700,;RNF31,upstream_gene_variant,,ENST00000559583,;PSME2,upstream_gene_variant,,ENST00000561103,;PSME2,upstream_gene_variant,,ENST00000559613,;RNF31,missense_variant,p.Val12Leu,ENST00000491351,;RNF31,non_coding_transcript_exon_variant,,ENST00000560342,;RP11-468E2.4,upstream_gene_variant,,ENST00000558468,;PSME2,upstream_gene_variant,,ENST00000558931,;RNF31,upstream_gene_variant,,ENST00000559071,;PSME2,upstream_gene_variant,,ENST00000559453,;PSME2,upstream_gene_variant,,ENST00000558273,;PSME2,upstream_gene_variant,,ENST00000560788,;RNF31,upstream_gene_variant,,ENST00000558907,;PSME2,upstream_gene_variant,,ENST00000560592,;PSME2,upstream_gene_variant,,ENST00000559493,;PSME2,upstream_gene_variant,,ENST00000559042,;PSME2,upstream_gene_variant,,ENST00000560370,;PSME2,upstream_gene_variant,,ENST00000559005,;PSME2,upstream_gene_variant,,ENST00000559359,;	C	ENST00000324103	Transcript	missense_variant	354/3627	34/3219	12/1072	V/L	Gtg/Ctg	rs370135028	1		1	RNF31	HGNC	HGNC:16031	protein_coding	YES	CCDS41931.1	ENSP00000315112	Q96EP0		UPI0000072F93	NM_017999.4	tolerated_low_confidence(0.32)		1/21		hmmpanther:PTHR16004																	MODERATE	1	SNV	1			1										PASS		rs370135028	.												C	3	2	38	24147732	24147732	G	C	1	0	0	0	0	1	0	0	0	13667	1261	44	4		4	RNF31	14	24147732	Missense_Mutation	SNP	G	C3N-00169_TP		24147732	82895986	141	10099											
DTD2	0	.	GRCh38	chr14	31457378	31457378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgggcctgaggaatccGgctaccctcagccatggctt	6	7	12	16	3	1	1	1	1	0	0	2	2	2	2	5	4	2	2	5	4	2	2	rs17097904		C3N-00169_TP	C3N-00169_NB	G	G																c.16C>T	p.Arg6Trp	p.R6W	ENST00000310850	1/3	46	42	4	80	80	0	varscan-mutect	DTD2,missense_variant,p.Arg6Trp,ENST00000310850,NM_080664.2;DTD2,missense_variant,p.Arg6Trp,ENST00000356180,;RP11-176H8.1,missense_variant,p.Arg6Trp,ENST00000547378,;CTD-2213F21.2,downstream_gene_variant,,ENST00000502430,;RP11-176H8.1,missense_variant,p.Arg6Trp,ENST00000549185,;DTD2,missense_variant,p.Arg6Trp,ENST00000549850,;RP11-176H8.1,upstream_gene_variant,,ENST00000547760,;	A	ENST00000310850	Transcript	missense_variant	133/2717	16/507	6/168	R/W	Cgg/Tgg	rs17097904	1		-1	DTD2	HGNC	HGNC:20277	protein_coding	YES	CCDS9643.1	ENSP00000312224	Q96FN9		UPI000006F286	NM_080664.2	deleterious(0.02)		1/3		Gene3D:3.50.80.10																	MODERATE	1	SNV	1			1										PASS		rs17097904	.												A	3	1	38	31457378	31457378	G	A	1	0	0	0	0	1	0	0	0	4608	1115	39	1		1	DTD2	14	31457378	Missense_Mutation	SNP	G	C3N-00169_TP	7309646	31457378	75586340	142	10100											
SYT16	0	.	GRCh38	chr14	62100456	62100456	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtcccgttgcaagacgTccattcggcgtggtcagccc	7	9	12	13	4	1	2	1	0	0	2	4	2	3	2	3	2	2	2	3	2	1	2	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.1687T>C	p.Ser563Pro	p.S563P	ENST00000568344	6/6	159	131	28	199	199	0	strelka-varscan-mutect	SYT16,missense_variant,p.Ser563Pro,ENST00000568344,NM_031914.2;SYT16,missense_variant,p.Ser121Pro,ENST00000430451,;RP11-355I22.2,downstream_gene_variant,,ENST00000554252,;SYT16,3_prime_UTR_variant,,ENST00000555409,;	C	ENST00000568344	Transcript	missense_variant	1884/13978	1687/1938	563/645	S/P	Tcc/Ccc		1		1	SYT16	HGNC	HGNC:23142	protein_coding	YES	CCDS45121.1	ENSP00000478637	Q17RD7		UPI0000EE1AC0	NM_031914.2	deleterious(0)		6/6		PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF113,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	38	62100456	62100456	T	C	1	0	0	0	0	1	0	0	0	15866	1667	58	5		5	SYT16	14	62100456	Missense_Mutation	SNP	T	C3N-00169_TP	30643078	62100456	44943262	143	10101											
KCNH5	0	.	GRCh38	chr14	62981101	62981101	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttctgctttgttttgAaggaaacattataaggaacc	11	16	9	5	0	1	1	0	1	1	0	1	3	1	3	1	2	3	4	1	2	5	7	novel		C3N-00169_TP	C3N-00169_NB	A	A																c.713T>A	p.Phe238Tyr	p.F238Y	ENST00000322893	6/11	244	190	54	277	276	1	strelka-varscan-mutect	KCNH5,missense_variant,p.Phe238Tyr,ENST00000322893,NM_139318.4;KCNH5,missense_variant,p.Phe238Tyr,ENST00000420622,NM_172375.2;KCNH5,missense_variant,p.Phe180Tyr,ENST00000394968,;KCNH5,non_coding_transcript_exon_variant,,ENST00000394964,;	T	ENST00000322893	Transcript	missense_variant	982/11290	713/2967	238/988	F/Y	tTc/tAc		1		-1	KCNH5	HGNC	HGNC:6254	protein_coding	YES	CCDS9756.1	ENSP00000321427	Q8NCM2		UPI0000039E2D	NM_139318.4	deleterious(0)		6/11		Transmembrane_helices:TMhelix,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF533,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	62981101	62981101	A	T	1	0	0	0	0	1	0	0	0	7951	246	9	4		4	KCNH5	14	62981101	Missense_Mutation	SNP	A	C3N-00169_TP	880645	62981101	44062617	144	10102											
C15orf41	0	.	GRCh38	chr15	36691706	36691706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaagtctattataaataGtatgctacgggacccttctc	11	13	6	11	1	2	0	0	0	2	0	4	1	3	1	2	1	2	2	2	1	8	7	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.368G>T	p.Ser123Ile	p.S123I	ENST00000566621	6/11	117	89	28	118	118	0	strelka-varscan-mutect	C15orf41,missense_variant,p.Ser123Ile,ENST00000566621,NM_001321759.1,NM_001321761.1,NM_001290233.1,NM_001130010.2;C15orf41,missense_variant,p.Ser25Ile,ENST00000567389,NM_032499.5;C15orf41,missense_variant,p.Ser25Ile,ENST00000338183,;C15orf41,missense_variant,p.Ser123Ile,ENST00000437989,;C15orf41,missense_variant,p.Ser123Ile,ENST00000569302,;C15orf41,missense_variant,p.Ser25Ile,ENST00000562877,NM_001290232.1;C15orf41,missense_variant,p.Ser25Ile,ENST00000566807,;C15orf41,missense_variant,p.Ser86Ile,ENST00000564586,;C15orf41,non_coding_transcript_exon_variant,,ENST00000570265,;C15orf41,upstream_gene_variant,,ENST00000565792,;	T	ENST00000566621	Transcript	missense_variant	618/2866	368/846	123/281	S/I	aGt/aTt		1		1	C15orf41	HGNC	HGNC:26929	protein_coding	YES	CCDS45215.1	ENSP00000455397	Q9Y2V0		UPI00001FE1DF	NM_001321759.1,NM_001321761.1,NM_001290233.1,NM_001130010.2	deleterious(0.02)		6/11		hmmpanther:PTHR31661,hmmpanther:PTHR31661:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	38	36691706	36691706	G	T	1	0	0	0	0	1	0	0	0	1845	1029	36	2		2	C15orf41	15	36691706	Missense_Mutation	SNP	G	C3N-00169_TP		36691706	65299483	145	10103											
SEMA6D	0	.	GRCh38	chr15	47770997	47770997	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccctcagttttttccgtctAgtccgccacctcattcccca	5	13	4	19	2	3	0	2	0	1	0	6	0	6	0	8	0	0	1	8	0	1	5			C3N-00169_TP	C3N-00169_NB	A	A																c.2434A>G	p.Ser812Gly	p.S812G	ENST00000316364	19/19	279	218	61	462	462	0	strelka-varscan-mutect	SEMA6D,missense_variant,p.Ser812Gly,ENST00000316364,NM_153618.1;SEMA6D,missense_variant,p.Ser750Gly,ENST00000558014,NM_001198999.1;SEMA6D,missense_variant,p.Ser756Gly,ENST00000354744,NM_153617.1;SEMA6D,missense_variant,p.Ser750Gly,ENST00000358066,NM_020858.1;SEMA6D,missense_variant,p.Ser737Gly,ENST00000389428,NM_153616.1;SEMA6D,missense_variant,p.Ser812Gly,ENST00000536845,;SEMA6D,3_prime_UTR_variant,,ENST00000355997,NM_153619.1;SEMA6D,3_prime_UTR_variant,,ENST00000558816,;SEMA6D,downstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000558431,;	G	ENST00000316364	Transcript	missense_variant	2873/6099	2434/3222	812/1073	S/G	Agt/Ggt	COSM1147535,COSM700399	1		1	SEMA6D	HGNC	HGNC:16770	protein_coding	YES	CCDS32225.1	ENSP00000324857	Q8NFY4		UPI000006E201	NM_153618.1	tolerated(0.35)		19/19		Low_complexity_(Seg):seg,hmmpanther:PTHR11036:SF65,hmmpanther:PTHR11036											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1483806899	.												G	3	3	38	47770997	47770997	A	G	1	0	0	0	0	1	0	0	0	14318	420	15	5		5	SEMA6D	15	47770997	Missense_Mutation	SNP	A	C3N-00169_TP	11079291	47770997	54220192	146	10104											
FBN1	0	.	GRCh38	chr15	48490026	48490026	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggcggccagcaataggCagggtgcactcctcgtcctc	6	7	14	14	3	0	0	0	0	0	0	4	0	2	0	3	5	2	3	3	5	2	1	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.2907G>C	p.=	p.L969L	ENST00000316623	25/66	295	201	94	379	379	0	strelka-varscan-mutect	FBN1,synonymous_variant,p.=,ENST00000316623,NM_000138.4;FBN1,intron_variant,,ENST00000537463,;	G	ENST00000316623	Transcript	synonymous_variant	3363/11756	2907/8616	969/2871	L	ctG/ctC		1		-1	FBN1	HGNC	HGNC:3603	protein_coding	YES	CCDS32232.1	ENSP00000325527	P35555		UPI0000EE4EBC	NM_000138.4			25/66		Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,Superfamily_domains:SSF57581																	LOW	1	SNV	1			1										PASS		rs886039154	.												G	2	3	38	48490026	48490026	C	G	1	0	0	0	0	0	0	0	1	5565	697	25	4		4	FBN1	15	48490026	Silent	SNP	C	C3N-00169_TP	719029	48490026	53501163	147	10105											
IGDCC3	0	.	GRCh38	chr15	65333400	65333400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacctggatgccctccaccCcgatagggcgaccatctgca	8	6	10	17	2	1	0	0	0	1	0	2	3	2	1	6	2	2	2	6	2	1	1	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.839G>T	p.Gly280Val	p.G280V	ENST00000327987	6/14	57	43	14	104	104	0	strelka-varscan-mutect	IGDCC3,missense_variant,p.Gly280Val,ENST00000327987,NM_004884.3;IGDCC3,missense_variant,p.Gly143Val,ENST00000558354,;IGDCC3,downstream_gene_variant,,ENST00000559058,;IGDCC3,non_coding_transcript_exon_variant,,ENST00000559231,;	A	ENST00000327987	Transcript	missense_variant	1091/4479	839/2445	280/814	G/V	gGg/gTg		1		-1	IGDCC3	HGNC	HGNC:9700	protein_coding	YES	CCDS10205.1	ENSP00000332773	Q8IVU1		UPI000019908F	NM_004884.3	deleterious(0)		6/14		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF106,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	38	65333400	65333400	C	A	1	0	0	0	0	1	0	0	0	7474	623	22	2		2	IGDCC3	15	65333400	Missense_Mutation	SNP	C	C3N-00169_TP	16843374	65333400	36657789	148	10106											
LINGO1	0	.	GRCh38	chr15	77614363	77614363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagtcgggcgagtagctgCgcacatgcaggtgggcgggc	6	5	19	11	4	0	0	0	0	0	0	1	1	0	0	1	4	3	4	1	4	1	1	rs752005315		C3N-00169_TP	C3N-00169_NB	C	C																c.1544G>A	p.Arg515His	p.R515H	ENST00000355300	2/2	181	132	49	236	236	0	strelka-varscan-mutect	LINGO1,missense_variant,p.Arg515His,ENST00000355300,NM_032808.6;LINGO1,missense_variant,p.Arg509His,ENST00000561030,NM_001301199.1,NM_001301194.1,NM_001301191.1,NM_001301197.1,NM_001301200.1,NM_001301187.1,NM_001301189.1,NM_001301186.1,NM_001301195.1,NM_001301198.1,NM_001301192.1;LINGO1,downstream_gene_variant,,ENST00000557798,;LINGO1,downstream_gene_variant,,ENST00000561686,;LINGO1,downstream_gene_variant,,ENST00000566711,;LINGO1,downstream_gene_variant,,ENST00000567726,;LINGO1,downstream_gene_variant,,ENST00000570216,;LINGO1,downstream_gene_variant,,ENST00000562933,;LINGO1,downstream_gene_variant,,ENST00000563316,;LINGO1,downstream_gene_variant,,ENST00000559893,;LINGO1,downstream_gene_variant,,ENST00000564472,;	T	ENST00000355300	Transcript	missense_variant	1719/3055	1544/1863	515/620	R/H	cGc/cAc	rs752005315,COSM4698083	1		-1	LINGO1	HGNC	HGNC:21205	protein_coding	YES	CCDS45313.1	ENSP00000347451	Q96FE5		UPI00000377A0	NM_032808.6	tolerated(0.23)		2/2		Gene3D:2.60.40.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF31,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs752005315	.												T	3	4	38	77614363	77614363	C	T	1	0	0	0	0	1	0	0	0	8735	768	27	1		1	LINGO1	15	77614363	Missense_Mutation	SNP	C	C3N-00169_TP	12280963	77614363	24376826	149	10107											
SOX8	0	.	GRCh38	chr16	984880	984880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcatgggcaccatggacGccttcgacgtccacgagttc	8	8	12	13	4	1	0	1	0	0	0	4	3	2	1	3	3	0	2	3	3	0	2			C3N-00169_TP	C3N-00169_NB	G	G																c.835G>T	p.Ala279Ser	p.A279S	ENST00000293894	3/3	137	129	8	226	226	0	strelka-varscan-mutect	SOX8,missense_variant,p.Ala279Ser,ENST00000293894,NM_014587.4;LMF1,upstream_gene_variant,,ENST00000570014,;RP11-161M6.2,upstream_gene_variant,,ENST00000565467,;RP11-161M6.2,upstream_gene_variant,,ENST00000568394,;RP11-161M6.2,upstream_gene_variant,,ENST00000562570,;RP11-161M6.2,upstream_gene_variant,,ENST00000563863,;RP11-161M6.2,upstream_gene_variant,,ENST00000565069,;RP11-161M6.2,upstream_gene_variant,,ENST00000563837,;SOX8,non_coding_transcript_exon_variant,,ENST00000566034,;LMF1,upstream_gene_variant,,ENST00000545827,;	T	ENST00000293894	Transcript	missense_variant	950/3049	835/1341	279/446	A/S	Gcc/Tcc	COSM1227184	1		1	SOX8	HGNC	HGNC:11203	protein_coding	YES	CCDS10428.1	ENSP00000293894	P57073		UPI00000015FB	NM_014587.4	tolerated(0.26)		3/3		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF20											1						MODERATE	1	SNV	1		1	1										PASS		rs1286616400	.												T	3	4	38	984880	984880	G	T	1	0	0	0	0	1	0	0	0	15283	1087	38	1		1	SOX8	16	984880	Missense_Mutation	SNP	G	C3N-00169_TP		984880	89353465	150	10108											
CACNA1H	0	.	GRCh38	chr16	1194979	1194979	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcggcgacacatggttcGagcacgtgagcatgctggta	8	7	14	12	5	0	1	0	1	0	0	1	3	0	1	1	3	3	5	1	3	1	2	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.307G>T	p.Glu103Ter	p.E103*	ENST00000348261	3/35	197	171	26	330	330	0	strelka-varscan-mutect	CACNA1H,stop_gained,p.Glu103Ter,ENST00000348261,NM_021098.2;CACNA1H,stop_gained,p.Glu103Ter,ENST00000358590,NM_001005407.1;CACNA1H,stop_gained,p.Glu103Ter,ENST00000565831,;CACNA1H,upstream_gene_variant,,ENST00000564954,;	T	ENST00000348261	Transcript	stop_gained	675/8208	307/7062	103/2353	E/*	Gag/Tag		1		1	CACNA1H	HGNC	HGNC:1395	protein_coding	YES	CCDS45375.1	ENSP00000334198	O95180		UPI000012727B	NM_021098.2			3/35		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192,Superfamily_domains:SSF81324																	HIGH	1	SNV	1			1										PASS		rs970648879	.												T	4	4	38	1194979	1194979	G	T	1	0	0	0	0	0	1	0	0	2233	1059	37	1		1	CACNA1H	16	1194979	Nonsense_Mutation	SNP	G	C3N-00169_TP	210099	1194979	89143366	151	10109											
IFT140	0	.	GRCh38	chr16	1566190	1566190	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgctcattaaaggacagCgtctctctccgatcaatttg	9	14	7	11	2	5	0	2	0	3	0	7	2	5	1	1	1	2	1	1	1	3	3	rs775156902		C3N-00169_TP	C3N-00169_NB	C	C																c.1872G>C	p.=	p.T624T	ENST00000426508	16/31	186	167	19	215	215	0	strelka-varscan-mutect	IFT140,synonymous_variant,p.=,ENST00000426508,NM_014714.3;IFT140,non_coding_transcript_exon_variant,,ENST00000439987,;IFT140,3_prime_UTR_variant,,ENST00000397417,;IFT140,non_coding_transcript_exon_variant,,ENST00000565298,;IFT140,upstream_gene_variant,,ENST00000561954,;	G	ENST00000426508	Transcript	synonymous_variant	2236/5270	1872/4389	624/1462	T	acG/acC	rs775156902,COSM5439103,COSM5687487	1		-1	IFT140	HGNC	HGNC:29077	protein_coding	YES	CCDS10439.1	ENSP00000406012	Q96RY7		UPI0000073C64	NM_014714.3			16/31													0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs775156902	.												G	2	3	38	1566190	1566190	C	G	1	0	0	0	0	0	0	0	1	7460	755	27	4		4	IFT140	16	1566190	Silent	SNP	C	C3N-00169_TP	371211	1566190	88772155	152	10110											
KIAA0430	0	.	GRCh38	chr16	15604202	15604202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaggctcttcagcagttcgGtcaaggtcatgaatccatat	10	11	10	10	1	4	1	3	1	1	0	6	1	5	1	1	3	1	4	1	3	3	3			C3N-00169_TP	C3N-00169_NB	G	G																c.4379C>T	p.Thr1460Ile	p.T1460I	ENST00000396368	22/27	184	158	26	202	201	1	strelka-varscan-mutect	KIAA0430,missense_variant,p.Thr1460Ile,ENST00000396368,NM_014647.3;KIAA0430,missense_variant,p.Thr1295Ile,ENST00000540441,;KIAA0430,missense_variant,p.Thr1460Ile,ENST00000551742,NM_001184998.1;KIAA0430,missense_variant,p.Thr1457Ile,ENST00000548025,NM_001184999.1;C16orf45,intron_variant,,ENST00000565857,;CTB-193M12.1,upstream_gene_variant,,ENST00000549756,;KIAA0430,non_coding_transcript_exon_variant,,ENST00000547936,;KIAA0430,3_prime_UTR_variant,,ENST00000552553,;KIAA0430,upstream_gene_variant,,ENST00000552771,;KIAA0430,upstream_gene_variant,,ENST00000551878,;KIAA0430,upstream_gene_variant,,ENST00000549337,;	A	ENST00000396368	Transcript	missense_variant	4586/7743	4379/5229	1460/1742	T/I	aCc/aTc	COSM1255569	1		-1	KIAA0430	HGNC	HGNC:29562	protein_coding	YES	CCDS10562.2	ENSP00000379654	Q9Y4F3		UPI00006881BC	NM_014647.3	tolerated(0.13)		22/27		Pfam_domain:PF12872,PROSITE_profiles:PS51644,hmmpanther:PTHR14379,hmmpanther:PTHR14379:SF3											1						MODERATE	1	SNV	1		1	1										PASS		rs1264892329	.												A	3	1	38	15604202	15604202	G	A	1	0	0	0	0	1	0	0	0	8086	1261	44	3		3	KIAA0430	16	15604202	Missense_Mutation	SNP	G	C3N-00169_TP	14038012	15604202	74734143	153	10111											
XYLT1	0	.	GRCh38	chr16	17134484	17134484	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggctcaccggcagctgttCtccccatccgtgtgcaggga	6	8	13	14	2	2	0	1	0	1	0	4	1	3	1	4	3	2	5	4	3	0	1	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.2016G>A	p.=	p.E672E	ENST00000261381	9/12	136	116	20	138	138	0	strelka-varscan-mutect	XYLT1,synonymous_variant,p.=,ENST00000261381,NM_022166.3;CTD-2576D5.4,upstream_gene_variant,,ENST00000567344,;	T	ENST00000261381	Transcript	synonymous_variant	2101/9891	2016/2880	672/959	E	gaG/gaA		1		-1	XYLT1	HGNC	HGNC:15516	protein_coding	YES	CCDS10569.1	ENSP00000261381	Q86Y38		UPI000000DCCE	NM_022166.3			9/12		hmmpanther:PTHR19297:SF91,hmmpanther:PTHR19297,Pfam_domain:PF12529																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	38	17134484	17134484	C	T	1	0	0	0	0	0	0	0	1	18022	912	32	3		3	XYLT1	16	17134484	Silent	SNP	C	C3N-00169_TP	1530282	17134484	73203861	154	10112											
ZNF469	0	.	GRCh38	chr16	88432602	88432602	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggactttgccaggcagAaggagacagcaggccccccc	10	4	13	14	0	0	2	0	0	0	2	0	5	0	3	4	4	2	2	4	4	1	1	novel		C3N-00169_TP	C3N-00169_NB	A	A																c.5048A>T	p.Glu1683Val	p.E1683V	ENST00000437464	2/2	470	327	143	681	681	0	strelka-varscan-mutect	ZNF469,missense_variant,p.Glu1711Val,ENST00000565624,;ZNF469,missense_variant,p.Glu1683Val,ENST00000437464,NM_001127464.2;	T	ENST00000437464	Transcript	missense_variant	5048/13203	5048/11778	1683/3925	E/V	gAa/gTa		1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2	deleterious(0.01)		2/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	38	88432602	88432602	A	T	1	0	0	0	0	1	0	0	0	18500	246	9	4		4	ZNF469	16	88432602	Missense_Mutation	SNP	A	C3N-00169_TP	71298118	88432602	1905743	155	10113											
SGSM2	0	.	GRCh38	chr17	2373486	2373486	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccacgtgcagcgcctcatCcaccgagactccaccatcag	10	5	8	18	3	2	1	2	0	0	1	4	2	4	1	6	0	3	1	6	0	0	0	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.2073C>T	p.=	p.I691I	ENST00000268989	17/24	86	76	10	120	120	0	strelka-varscan-mutect	SGSM2,synonymous_variant,p.=,ENST00000268989,NM_014853.2;SGSM2,synonymous_variant,p.=,ENST00000426855,NM_001098509.1;SGSM2,synonymous_variant,p.=,ENST00000574563,;SGSM2,upstream_gene_variant,,ENST00000573851,;RP1-59D14.5,downstream_gene_variant,,ENST00000574290,;RP1-59D14.5,downstream_gene_variant,,ENST00000573007,;SGSM2,non_coding_transcript_exon_variant,,ENST00000574857,;SGSM2,non_coding_transcript_exon_variant,,ENST00000573717,;SGSM2,upstream_gene_variant,,ENST00000572841,;SGSM2,downstream_gene_variant,,ENST00000575367,;SGSM2,downstream_gene_variant,,ENST00000574250,;	T	ENST00000268989	Transcript	synonymous_variant	2250/4863	2073/3156	691/1051	I	atC/atT		1		1	SGSM2	HGNC	HGNC:29026	protein_coding	YES	CCDS32526.1	ENSP00000268989	O43147		UPI0000160300	NM_014853.2			17/24		PROSITE_profiles:PS50086,SMART_domains:SM00164																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	38	2373486	2373486	C	T	1	0	0	0	0	0	0	0	1	14481	845	30	3		3	SGSM2	17	2373486	Silent	SNP	C	C3N-00169_TP		2373486	80883955	156	10114											
TP53	0	.	GRCh38	chr17	7674217	7674217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatggtgaggatgggcCtccggttcatgccgcccatg	6	10	15	10	2	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	0	1	rs587782329		C3N-00169_TP	C3N-00169_NB	C	C																c.746G>T	p.Arg249Met	p.R249M	ENST00000269305	7/11	197	142	55	311	311	0	strelka-varscan-mutect	TP53,missense_variant,p.Arg249Met,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Arg249Met,ENST00000420246,;TP53,missense_variant,p.Arg210Met,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Arg210Met,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg249Met,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Arg210Met,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Arg249Met,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Arg210Met,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Arg249Met,ENST00000445888,;TP53,missense_variant,p.Arg210Met,ENST00000619485,;TP53,missense_variant,p.Arg117Met,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Arg90Met,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Arg117Met,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Arg90Met,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Arg117Met,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Arg90Met,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Arg249Met,ENST00000359597,;TP53,missense_variant,p.Arg238Met,ENST00000615910,;TP53,missense_variant,p.Arg249Met,ENST00000413465,;TP53,missense_variant,p.Arg117Met,ENST00000509690,;TP53,incomplete_terminal_codon_variant,p.=,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Arg210Met,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	936/2579	746/1182	249/393	R/M	aGg/aTg	rs587782329,TP53_g.13383G>T,TP53_g.13383G>C,TP53_g.13383G>A,TP53_g.13383del,COSM129832,COSM129833,COSM1649403,COSM1728798,COSM326723,COSM326724,COSM3388182,COSM3403260,COSM375642,COSM375643,COSM43665,COSM43871,COSM44091,COSM44916	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										uncertain_significance	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs587782329	.												A	3	1	38	7674217	7674217	C	A	1	0	0	0	0	1	0	0	0	16859	681	24	2		2	TP53	17	7674217	Missense_Mutation	SNP	C	C3N-00169_TP	5300731	7674217	75583224	157	10115											
TBC1D26	0	.	GRCh38	chr17	15738823	15738823	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgttcatacaaagattcGgagtcaagtaaggccaatgg	14	10	11	6	1	2	2	2	1	0	1	3	3	2	3	1	3	1	2	1	3	5	4	rs749678463		C3N-00169_TP	C3N-00169_NB	G	G																c.490G>T	p.Gly164Ter	p.G164*	ENST00000437605	8/15	409	339	70	511	509	2	strelka-varscan-mutect	TBC1D26,stop_gained,p.Gly164Ter,ENST00000612583,;TBC1D26,stop_gained,p.Gly164Ter,ENST00000437605,NM_178571.4;TBC1D26,stop_gained,p.Gly164Ter,ENST00000579428,;TBC1D26,downstream_gene_variant,,ENST00000464963,;TBC1D26,downstream_gene_variant,,ENST00000580596,;TBC1D26,downstream_gene_variant,,ENST00000584301,;TBC1D26,downstream_gene_variant,,ENST00000578506,;AC005324.6,intron_variant,,ENST00000434017,;AC005324.6,intron_variant,,ENST00000433873,;AC005324.6,downstream_gene_variant,,ENST00000580194,;TBC1D26,downstream_gene_variant,,ENST00000585171,;TBC1D26,downstream_gene_variant,,ENST00000583675,;TBC1D26,downstream_gene_variant,,ENST00000583620,;TBC1D26,downstream_gene_variant,,ENST00000582140,;TBC1D26,downstream_gene_variant,,ENST00000582534,;TBC1D26,stop_gained,p.Gly164Ter,ENST00000469477,;TBC1D26,3_prime_UTR_variant,,ENST00000413242,;TBC1D26,non_coding_transcript_exon_variant,,ENST00000491819,;TBC1D26,non_coding_transcript_exon_variant,,ENST00000580970,;TBC1D26,downstream_gene_variant,,ENST00000412988,;	T	ENST00000437605	Transcript	stop_gained	740/1868	490/753	164/250	G/*	Gga/Tga	rs749678463,COSM5633881,COSM5633882	1		1	TBC1D26	HGNC	HGNC:28745	protein_coding	YES	CCDS42265.1	ENSP00000410111	Q86UD7		UPI0000246DD7	NM_178571.4			8/15		PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF322,hmmpanther:PTHR22957,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923											0,1,1						HIGH	1	SNV	1		0,1,1	1										PASS		rs749678463	.												T	4	4	38	15738823	15738823	G	T	1	0	0	0	0	0	1	0	0	16016	1117	39	1		1	TBC1D26	17	15738823	Nonsense_Mutation	SNP	G	C3N-00169_TP	8064606	15738823	67518618	158	10116											
RHBDL3	0	.	GRCh38	chr17	32321059	32321059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacttgggtggcgtggccGtgggcatcaccctgggcgtg	3	8	18	12	4	1	0	1	0	0	0	1	0	1	0	2	5	0	2	2	5	0	1	rs372423346		C3N-00169_TP	C3N-00169_NB	G	G																c.1045G>T	p.Val349Leu	p.V349L	ENST00000269051	9/9	365	289	76	453	453	0	strelka-varscan-mutect	RHBDL3,missense_variant,p.Val349Leu,ENST00000269051,NM_138328.2;RHBDL3,missense_variant,p.Val251Leu,ENST00000536287,;RHBDL3,missense_variant,p.Val341Leu,ENST00000538145,;RHBDL3,missense_variant,p.Arg315Leu,ENST00000431505,;C17orf75,downstream_gene_variant,,ENST00000583104,;RP11-227G15.3,upstream_gene_variant,,ENST00000581915,;RP11-227G15.3,upstream_gene_variant,,ENST00000578389,;RHBDL3,3_prime_UTR_variant,,ENST00000578006,;RHBDL3,downstream_gene_variant,,ENST00000582967,;	T	ENST00000269051	Transcript	missense_variant	1059/4661	1045/1215	349/404	V/L	Gtg/Ttg	rs372423346	1		1	RHBDL3	HGNC	HGNC:16502	protein_coding	YES	CCDS32613.1	ENSP00000269051	P58872		UPI0000133858	NM_138328.2	deleterious(0.04)		9/9		Transmembrane_helices:TMhelix,hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF14,Gene3D:2xovA00,Pfam_domain:PF01694,PIRSF_domain:PIRSF037470,Superfamily_domains:SSF144091																	MODERATE	1	SNV	1			1										PASS		rs372423346	.												T	3	4	38	32321059	32321059	G	T	1	0	0	0	0	1	0	0	0	13495	1145	40	1		1	RHBDL3	17	32321059	Missense_Mutation	SNP	G	C3N-00169_TP	16582236	32321059	50936382	159	10117											
STRADA	0	.	GRCh38	chr17	63714040	63714040	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgtaacaccctccctcTggcagaaagctactcatgac	11	8	7	15	1	2	2	1	1	1	1	4	2	3	2	2	1	4	4	2	1	3	2	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.192A>T	p.=	p.P64P	ENST00000336174	5/13	292	233	59	302	301	1	strelka-varscan-mutect	STRADA,synonymous_variant,p.=,ENST00000245865,;STRADA,synonymous_variant,p.=,ENST00000392950,NM_153335.5;STRADA,synonymous_variant,p.=,ENST00000336174,NM_001003787.2;STRADA,synonymous_variant,p.=,ENST00000375840,NM_001003786.2,NM_001003788.2;STRADA,synonymous_variant,p.=,ENST00000579340,;STRADA,synonymous_variant,p.=,ENST00000582137,NM_001165969.1;STRADA,synonymous_variant,p.=,ENST00000617949,;STRADA,synonymous_variant,p.=,ENST00000579549,;STRADA,synonymous_variant,p.=,ENST00000582030,;STRADA,synonymous_variant,p.=,ENST00000580338,;STRADA,synonymous_variant,p.=,ENST00000584110,;STRADA,intron_variant,,ENST00000447001,NM_001165970.1;STRADA,upstream_gene_variant,,ENST00000578008,;STRADA,upstream_gene_variant,,ENST00000578801,;STRADA,downstream_gene_variant,,ENST00000580288,;STRADA,non_coding_transcript_exon_variant,,ENST00000579350,;STRADA,intron_variant,,ENST00000580039,;STRADA,intron_variant,,ENST00000581505,;RP11-51F16.8,3_prime_UTR_variant,,ENST00000580553,;STRADA,3_prime_UTR_variant,,ENST00000581243,;STRADA,non_coding_transcript_exon_variant,,ENST00000577375,;STRADA,non_coding_transcript_exon_variant,,ENST00000579318,;	A	ENST00000336174	Transcript	synonymous_variant	305/2143	192/1296	64/431	P	ccA/ccT		1		-1	STRADA	HGNC	HGNC:30172	protein_coding	YES	CCDS32703.1	ENSP00000336655	Q7RTN6		UPI000013CBBE	NM_001003787.2			5/13		Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	38	63714040	63714040	T	A	1	0	0	0	0	0	0	0	1	15705	1567	55	4		4	STRADA	17	63714040	Silent	SNP	T	C3N-00169_TP	31392981	63714040	19543401	160	10118											
DDX42	0	.	GRCh38	chr17	63787156	63787156	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactcccacagcagtcccAcagtgcctttggggcaacca	11	6	8	16	0	0	0	0	0	0	0	2	0	2	0	4	2	4	2	4	2	2	1	rs746463979		C3N-00169_TP	C3N-00169_NB	A	A																c.107A>G	p.His36Arg	p.H36R	ENST00000578681	3/19	473	371	102	514	514	0	strelka-varscan-mutect	DDX42,missense_variant,p.His36Arg,ENST00000578681,NM_007372.3;DDX42,missense_variant,p.His36Arg,ENST00000583590,;DDX42,missense_variant,p.His36Arg,ENST00000389924,NM_203499.2;DDX42,missense_variant,p.His36Arg,ENST00000581135,;DDX42,intron_variant,,ENST00000359353,;DDX42,missense_variant,p.His36Arg,ENST00000578137,;DDX42,non_coding_transcript_exon_variant,,ENST00000580108,;	G	ENST00000578681	Transcript	missense_variant	708/4337	107/2817	36/938	H/R	cAc/cGc	rs746463979	1		1	DDX42	HGNC	HGNC:18676	protein_coding	YES	CCDS32704.1	ENSP00000464050	Q86XP3		UPI000017DA3D	NM_007372.3	deleterious_low_confidence(0.01)		3/19		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs746463979	.												G	3	3	38	63787156	63787156	A	G	1	0	0	0	0	1	0	0	0	4165	159	6	5		5	DDX42	17	63787156	Missense_Mutation	SNP	A	C3N-00169_TP	73116	63787156	19470285	161	10119											
CCDC57	0	.	GRCh38	chr17	82201618	82201618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctccaccttcctggcCtctctggctagcgcctgcct	3	11	8	19	1	1	0	0	0	1	0	5	0	4	0	7	2	3	2	7	2	1	2	rs779736160		C3N-00169_TP	C3N-00169_NB	C	C																c.327G>T	p.Glu109Asp	p.E109D	ENST00000389641	2/18	206	172	34	207	206	1	strelka-varscan-mutect	CCDC57,missense_variant,p.Glu109Asp,ENST00000389641,;CCDC57,missense_variant,p.Glu109Asp,ENST00000392347,NM_198082.2;CCDC57,missense_variant,p.Glu109Asp,ENST00000392343,;CCDC57,upstream_gene_variant,,ENST00000578910,;CCDC57,upstream_gene_variant,,ENST00000581625,;	A	ENST00000389641	Transcript	missense_variant	364/3000	327/2751	109/916	E/D	gaG/gaT	rs779736160	1		-1	CCDC57	HGNC	HGNC:27564	protein_coding	YES		ENSP00000374292	Q2TAC2		UPI000155D557		deleterious(0.01)		2/18		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23161,hmmpanther:PTHR23161:SF1																	MODERATE	1	SNV	5			1										PASS		rs779736160	.												A	3	1	38	82201618	82201618	C	A	1	0	0	0	0	1	0	0	0	2529	680	24	2		2	CCDC57	17	82201618	Missense_Mutation	SNP	C	C3N-00169_TP	18414462	82201618	1055823	162	10120											
PTPRM	0	.	GRCh38	chr18	8143738	8143738	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgcgggcatcttgctgttCgtgattatatttcttggagt	6	17	11	7	3	2	1	0	1	2	0	4	2	2	2	0	2	1	3	0	2	2	6	rs749263983		C3N-00169_TP	C3N-00169_NB	C	C																c.2259C>T	p.=	p.F753F	ENST00000580170	14/33	216	189	27	191	191	0	strelka-varscan-mutect	PTPRM,synonymous_variant,p.=,ENST00000332175,NM_002845.3;PTPRM,synonymous_variant,p.=,ENST00000580170,NM_001105244.1;PTPRM,synonymous_variant,p.=,ENST00000400053,;PTPRM,synonymous_variant,p.=,ENST00000583289,;PTPRM,synonymous_variant,p.=,ENST00000577468,;PTPRM,5_prime_UTR_variant,,ENST00000400060,;PTPRM,non_coding_transcript_exon_variant,,ENST00000577827,;	T	ENST00000580170	Transcript	synonymous_variant	3296/5941	2259/4398	753/1465	F	ttC/ttT	rs749263983,COSM3147738,COSM4276978	1		1	PTPRM	HGNC	HGNC:9675	protein_coding	YES	CCDS58613.1	ENSP00000463325	P28827		UPI00015CFC03	NM_001105244.1			14/33		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs749263983	.												T	2	4	38	8143738	8143738	C	T	1	0	0	0	0	0	0	0	1	12960	883	31	1		1	PTPRM	18	8143738	Silent	SNP	C	C3N-00169_TP		8143738	72229547	163	10121											
FHOD3	0	.	GRCh38	chr18	36693283	36693283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggagtgtgagccggggcaGagccgacctctccttggacc	6	6	15	14	3	1	2	0	1	1	1	2	5	1	4	6	4	2	1	6	4	0	1	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.2096G>C	p.Arg699Thr	p.R699T	ENST00000590592	17/29	323	247	76	459	459	0	strelka-varscan-mutect	FHOD3,missense_variant,p.Arg524Thr,ENST00000257209,NM_025135.3;FHOD3,missense_variant,p.Arg699Thr,ENST00000590592,NM_001281740.1;FHOD3,missense_variant,p.Arg507Thr,ENST00000359247,NM_001281739.1;FHOD3,missense_variant,p.Arg285Thr,ENST00000592930,;FHOD3,intron_variant,,ENST00000591635,;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;FHOD3,non_coding_transcript_exon_variant,,ENST00000587493,;	C	ENST00000590592	Transcript	missense_variant	2096/4869	2096/4869	699/1622	R/T	aGa/aCa		1		1	FHOD3	HGNC	HGNC:26178	protein_coding	YES	CCDS62418.1	ENSP00000466937	Q2V2M9		UPI0002840E0A	NM_001281740.1	deleterious_low_confidence(0)		17/29																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	38	36693283	36693283	G	C	1	0	0	0	0	1	0	0	0	5748	942	33	4		4	FHOD3	18	36693283	Missense_Mutation	SNP	G	C3N-00169_TP	28549545	36693283	43680002	164	10122											
FHOD3	0	.	GRCh38	chr18	36709222	36709222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagagactgaagtggaGcaggcactagagcaagagcc	13	4	16	8	0	0	4	0	1	0	3	0	6	0	5	1	3	4	4	1	3	3	1	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.2364G>T	p.Glu788Asp	p.E788D	ENST00000590592	18/29	309	248	61	358	358	0	strelka-varscan-mutect	FHOD3,missense_variant,p.Glu613Asp,ENST00000257209,NM_025135.3;FHOD3,missense_variant,p.Glu788Asp,ENST00000590592,NM_001281740.1;FHOD3,missense_variant,p.Glu596Asp,ENST00000359247,NM_001281739.1;FHOD3,missense_variant,p.Glu374Asp,ENST00000592930,;FHOD3,intron_variant,,ENST00000591635,;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;FHOD3,non_coding_transcript_exon_variant,,ENST00000587493,;	T	ENST00000590592	Transcript	missense_variant	2364/4869	2364/4869	788/1622	E/D	gaG/gaT		1		1	FHOD3	HGNC	HGNC:26178	protein_coding	YES	CCDS62418.1	ENSP00000466937	Q2V2M9		UPI0002840E0A	NM_001281740.1	deleterious_low_confidence(0.04)		18/29		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF213,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	36709222	36709222	G	T	1	0	0	0	0	1	0	0	0	5748	962	34	2		2	FHOD3	18	36709222	Missense_Mutation	SNP	G	C3N-00169_TP	15939	36709222	43664063	165	10123											
RAB27B	0	.	GRCh38	chr18	54889281	54889281	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgtggagaaagctgtagaAacccttttggacttaatcat	14	12	9	6	0	1	2	1	0	0	2	1	4	1	3	1	2	2	2	1	2	5	4	novel		C3N-00169_TP	C3N-00169_NB	A	A																c.525A>G	p.=	p.E175E	ENST00000262094	6/6	152	104	48	142	141	1	strelka-varscan-mutect	RAB27B,synonymous_variant,p.=,ENST00000262094,NM_004163.4;RAB27B,intron_variant,,ENST00000592334,;RAB27B,downstream_gene_variant,,ENST00000586570,;RP11-839G9.1,intron_variant,,ENST00000588466,;RAB27B,downstream_gene_variant,,ENST00000586594,;	G	ENST00000262094	Transcript	synonymous_variant	1046/7281	525/657	175/218	E	gaA/gaG		1		1	RAB27B	HGNC	HGNC:9767	protein_coding	YES	CCDS11958.1	ENSP00000262094	O00194		UPI0000001268	NM_004163.4			6/6		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF587,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	38	54889281	54889281	A	G	1	0	0	0	0	0	0	0	1	13073	11	1	5		5	RAB27B	18	54889281	Silent	SNP	A	C3N-00169_TP	18180059	54889281	25484004	166	10124											
ADGRE1	0	.	GRCh38	chr19	6913742	6913742	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcctccctggccacagtCttcctggagagtgtggaaag	8	9	12	12	1	1	1	0	0	1	1	4	3	4	2	4	3	0	0	4	3	1	1	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1212C>A	p.=	p.V404V	ENST00000312053	11/21	137	113	24	177	176	1	strelka-varscan-mutect	ADGRE1,synonymous_variant,p.=,ENST00000312053,NM_001974.4;ADGRE1,synonymous_variant,p.=,ENST00000381404,NM_001256252.1;ADGRE1,synonymous_variant,p.=,ENST00000250572,NM_001256253.1;ADGRE1,synonymous_variant,p.=,ENST00000381407,NM_001256254.1;ADGRE1,synonymous_variant,p.=,ENST00000450315,NM_001256255.1;ADGRE1,downstream_gene_variant,,ENST00000595026,;	A	ENST00000312053	Transcript	synonymous_variant	1249/3128	1212/2661	404/886	V	gtC/gtA		1		1	ADGRE1	HGNC	HGNC:3336	protein_coding	YES	CCDS12175.1	ENSP00000311545	Q14246		UPI0000203241	NM_001974.4			11/21		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF303																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	38	6913742	6913742	C	A	1	0	0	0	0	0	0	0	1	359	900	32	2		2	ADGRE1	19	6913742	Silent	SNP	C	C3N-00169_TP		6913742	51703874	167	10125											
ZNF560	0	.	GRCh38	chr19	9468056	9468056	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgataaatgaaggctttcccAtagtcagtgccttcaaagga	13	11	9	8	0	2	2	2	2	0	0	3	3	3	3	2	2	1	1	2	2	5	4	novel		C3N-00169_TP	C3N-00169_NB	A	A																c.891T>A	p.Tyr297Ter	p.Y297*	ENST00000301480	10/10	169	131	38	162	162	0	strelka-varscan-mutect	ZNF560,stop_gained,p.Tyr297Ter,ENST00000301480,NM_152476.2;ZNF560,downstream_gene_variant,,ENST00000585974,;	T	ENST00000301480	Transcript	stop_gained	1105/2654	891/2373	297/790	Y/*	taT/taA		1		-1	ZNF560	HGNC	HGNC:26484	protein_coding	YES	CCDS12214.1	ENSP00000301480	Q96MR9		UPI000013E720	NM_152476.2			10/10		Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	38	9468056	9468056	A	T	1	0	0	0	0	0	1	0	0	18565	224	8	4		4	ZNF560	19	9468056	Nonsense_Mutation	SNP	A	C3N-00169_TP	2554314	9468056	49149560	168	10126											
ZNF254	0	.	GRCh38	chr19	24087338	24087338	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccctagaagcctagaaatgGtgagaatgccagtccgacat	13	7	10	11	1	0	3	0	1	0	3	1	5	1	3	5	1	2	0	5	1	5	2	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.30+1G>T		p.X10_splice	ENST00000357002		215	166	49	227	226	1	strelka-varscan-mutect	ZNF254,splice_donor_variant,,ENST00000611359,NM_001278664.1;ZNF254,splice_donor_variant,,ENST00000357002,NM_203282.3;ZNF254,splice_donor_variant,,ENST00000616028,NM_001278663.1,NM_001278678.1;ZNF254,splice_donor_variant,,ENST00000339642,NM_001278665.1;ZNF254,intron_variant,,ENST00000613065,NM_001278677.1,NM_001278661.1,NM_001278662.1;ZNF254,splice_donor_variant,,ENST00000594886,;ZNF254,splice_donor_variant,,ENST00000595187,;	T	ENST00000357002	Transcript	splice_donor_variant	-/3967	30/1980	10/659				1		1	ZNF254	HGNC	HGNC:13047	protein_coding	YES	CCDS32983.1	ENSP00000349494	O75437		UPI0000366DB6	NM_203282.3				1/3																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	38	24087338	24087338	G	T	1	0	0	0	0	0	0	1	0	18374	1275	44	2		2	ZNF254	19	24087338	Splice_Site	SNP	G	C3N-00169_TP	14619282	24087338	34530278	169	10127											
PROSER3	0	.	GRCh38	chr19	35768444	35768444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgttcctgttggaccaggctGaagacctgggatcttggtcc	6	11	13	11	1	1	2	0	1	1	1	3	4	3	4	4	4	0	3	4	4	1	3	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.1342G>A	p.Glu448Lys	p.E448K	ENST00000396908	11/11	120	105	15	167	167	0	strelka-mutect	PROSER3,missense_variant,p.Glu448Lys,ENST00000396908,NM_001039887.2;PROSER3,downstream_gene_variant,,ENST00000301165,;AC002398.13,downstream_gene_variant,,ENST00000589397,;PROSER3,non_coding_transcript_exon_variant,,ENST00000536037,;PROSER3,downstream_gene_variant,,ENST00000542591,;PROSER3,downstream_gene_variant,,ENST00000544876,;PROSER3,3_prime_UTR_variant,,ENST00000620918,;PROSER3,non_coding_transcript_exon_variant,,ENST00000544158,;PROSER3,downstream_gene_variant,,ENST00000601095,;	A	ENST00000396908	Transcript	missense_variant	1405/2149	1342/1443	448/480	E/K	Gaa/Aaa		1		1	PROSER3	HGNC	HGNC:25204	protein_coding	YES		ENSP00000380116	Q2NL68		UPI000067CA4C	NM_001039887.2	tolerated(0.16)		11/11		hmmpanther:PTHR22045,hmmpanther:PTHR22045:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	38	35768444	35768444	G	A	1	0	0	0	0	1	0	0	0	12695	1291	45	3		3	PROSER3	19	35768444	Missense_Mutation	SNP	G	C3N-00169_TP	11681106	35768444	22849172	170	10128											
IRGC	0	.	GRCh38	chr19	43719281	43719281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctgccctcccaccggcgCcacgctggcctgctgtcgct	3	7	11	20	4	0	0	0	0	0	0	2	1	1	0	6	2	2	3	6	2	0	0	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.723C>T	p.=	p.R241R	ENST00000244314	2/2	82	56	26	113	113	0	strelka-varscan-mutect	IRGC,synonymous_variant,p.=,ENST00000244314,NM_019612.3;IRGC,downstream_gene_variant,,ENST00000596627,;	T	ENST00000244314	Transcript	synonymous_variant	922/1662	723/1392	241/463	R	cgC/cgT		1		1	IRGC	HGNC	HGNC:28835	protein_coding	YES	CCDS12629.1	ENSP00000244314	Q6NXR0	J7NNX4	UPI000011DFC0	NM_019612.3			2/2		Pfam_domain:PF05049,hmmpanther:PTHR32341,hmmpanther:PTHR32341:SF7,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	38	43719281	43719281	C	T	1	0	0	0	0	0	0	0	1	7745	726	26	3		3	IRGC	19	43719281	Silent	SNP	C	C3N-00169_TP	7950837	43719281	14898335	171	10129											
NLRP7	0	.	GRCh38	chr19	54939604	54939604	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgccccgcagctgtgcGccctgcgggaaccggctgca	5	4	15	17	6	0	0	0	0	0	0	0	1	0	1	4	2	6	4	4	2	1	0	rs762977273		C3N-00169_TP	C3N-00169_NB	G	G																c.1215C>G	p.=	p.G405G	ENST00000588756	6/13	286	175	111	186	186	0	strelka-varscan-mutect	NLRP7,synonymous_variant,p.=,ENST00000588756,;NLRP7,synonymous_variant,p.=,ENST00000328092,NM_139176.3;NLRP7,synonymous_variant,p.=,ENST00000592784,NM_001127255.1;NLRP7,synonymous_variant,p.=,ENST00000340844,NM_206828.3;NLRP7,synonymous_variant,p.=,ENST00000590030,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,synonymous_variant,p.=,ENST00000586379,;	C	ENST00000588756	Transcript	synonymous_variant	1702/3826	1215/3114	405/1037	G	ggC/ggG	rs762977273	1		-1	NLRP7	HGNC	HGNC:22947	protein_coding	YES	CCDS46183.1	ENSP00000467123	Q8WX94		UPI000174C6C4				6/13		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF14																	LOW	1	SNV	1			1										PASS		rs762977273	.												C	2	2	38	54939604	54939604	G	C	1	0	0	0	0	0	0	0	1	10520	1074	38	4		4	NLRP7	19	54939604	Silent	SNP	G	C3N-00169_TP	11220323	54939604	3678012	172	10130											
TMEM150B	0	.	GRCh38	chr19	55312871	55312871	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctgctacagctggacCggcagggagatgggggaggc	7	5	20	9	1	0	1	0	0	0	1	0	4	0	3	2	7	4	3	2	7	1	1	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.690G>T	p.=	p.P230P	ENST00000326652	8/8	106	69	37	149	149	0	strelka-varscan-mutect	TMEM150B,synonymous_variant,p.=,ENST00000326652,NM_001085488.2,NM_001282011.1;BRSK1,downstream_gene_variant,,ENST00000309383,NM_032430.1;BRSK1,downstream_gene_variant,,ENST00000590333,;BRSK1,downstream_gene_variant,,ENST00000326848,;TMEM150B,downstream_gene_variant,,ENST00000591570,;TMEM150B,downstream_gene_variant,,ENST00000585918,;CTD-2105E13.14,upstream_gene_variant,,ENST00000596786,;TMEM150B,3_prime_UTR_variant,,ENST00000586609,;TMEM150B,3_prime_UTR_variant,,ENST00000592603,;TMEM150B,downstream_gene_variant,,ENST00000592731,;	A	ENST00000326652	Transcript	synonymous_variant	873/943	690/702	230/233	P	ccG/ccT		1		-1	TMEM150B	HGNC	HGNC:34415	protein_coding	YES	CCDS42629.1	ENSP00000320757	A6NC51		UPI00001AF4D4	NM_001085488.2,NM_001282011.1			8/8		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs929546497	.												A	2	1	38	55312871	55312871	C	A	1	0	0	0	0	0	0	0	1	16510	639	23	1		1	TMEM150B	19	55312871	Silent	SNP	C	C3N-00169_TP	373267	55312871	3304745	173	10131											
RP5-1187M17.10	0	.	GRCh38	chr20	3165578	3165578	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accttgtcctccagctcttcCcgctgccgcatcagccgggc	4	9	9	19	3	2	0	1	0	1	0	5	0	5	0	6	1	3	3	6	1	0	2	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1104G>T	p.=	p.R368R	ENST00000360342	5/6	69	49	20	96	96	0	strelka-varscan-mutect	RP5-1187M17.10,synonymous_variant,p.=,ENST00000329152,;RP5-1187M17.10,synonymous_variant,p.=,ENST00000337576,;RP5-1187M17.10,synonymous_variant,p.=,ENST00000360342,NM_001282533.1;	A	ENST00000360342	Transcript	synonymous_variant	1438/4055	1104/1884	368/627	R	cgG/cgT		1		-1	RP5-1187M17.10	Clone_based_vega_gene		protein_coding	YES	CCDS63218.1	ENSP00000353496			UPI00001AE5C6	NM_001282533.1			5/6		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19354,hmmpanther:PTHR19354:SF6																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	38	3165578	3165578	C	A	1	0	0	0	0	0	0	0	1	13781	610	22	2		2	RP5-1187M17.10	20	3165578	Silent	SNP	C	C3N-00169_TP		3165578	61278589	174	10132											
PLCB1	0	.	GRCh38	chr20	8724696	8724696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatggccacagaagaaatgtCtaatctggtgaactatattc	14	12	8	7	0	2	3	0	1	2	2	3	3	2	3	1	2	1	0	1	2	7	5	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.1622C>T	p.Ser541Phe	p.S541F	ENST00000338037	16/32	273	219	54	210	210	0	strelka-varscan-mutect	PLCB1,missense_variant,p.Ser541Phe,ENST00000378641,NM_182734.2;PLCB1,missense_variant,p.Ser541Phe,ENST00000338037,NM_015192.3;PLCB1,missense_variant,p.Ser461Phe,ENST00000612075,;PLCB1,missense_variant,p.Ser461Phe,ENST00000617005,;PLCB1,missense_variant,p.Ser440Phe,ENST00000637919,;PLCB1,missense_variant,p.Ser541Phe,ENST00000378637,;PLCB1,missense_variant,p.Ser440Phe,ENST00000625874,;PLCB1,missense_variant,p.Ser440Phe,ENST00000626966,;PLCB1,non_coding_transcript_exon_variant,,ENST00000635830,;PLCB1,non_coding_transcript_exon_variant,,ENST00000636825,;PLCB1,missense_variant,p.Ser282Phe,ENST00000487210,;PLCB1,3_prime_UTR_variant,,ENST00000636319,;PLCB1,non_coding_transcript_exon_variant,,ENST00000494924,;	T	ENST00000338037	Transcript	missense_variant	2009/7092	1622/3651	541/1216	S/F	tCt/tTt		1		1	PLCB1	HGNC	HGNC:15917	protein_coding	YES	CCDS13102.1	ENSP00000338185	Q9NQ66		UPI0000131A8F	NM_015192.3	deleterious(0)		16/32		PROSITE_profiles:PS50008,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,Gene3D:3.20.20.190,PIRSF_domain:PIRSF000956,Pfam_domain:PF00387,SMART_domains:SM00149,Superfamily_domains:SSF51695																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	8724696	8724696	C	T	1	0	0	0	0	1	0	0	0	12121	913	32	3		3	PLCB1	20	8724696	Missense_Mutation	SNP	C	C3N-00169_TP	5559118	8724696	55719471	175	10133											
KIF3B	0	.	GRCh38	chr20	32310597	32310597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatcaacctctccctttccGctttgggtaatgtcatctct	7	15	6	13	1	4	1	2	0	2	1	7	1	5	1	3	1	1	2	3	1	2	3			C3N-00169_TP	C3N-00169_NB	G	G																c.820G>T	p.Ala274Ser	p.A274S	ENST00000375712	2/9	250	223	27	291	290	1	strelka-varscan-mutect	KIF3B,missense_variant,p.Ala274Ser,ENST00000375712,NM_004798.3;	T	ENST00000375712	Transcript	missense_variant	987/6103	820/2244	274/747	A/S	Gct/Tct	COSM5629398	1		1	KIF3B	HGNC	HGNC:6320	protein_coding	YES	CCDS13200.1	ENSP00000364864	O15066		UPI000012DDB1	NM_004798.3	tolerated(0.15)		2/9		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF476,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		rs940799632	.												T	3	4	38	32310597	32310597	G	T	1	0	0	0	0	1	0	0	0	8166	1087	38	1		1	KIF3B	20	32310597	Missense_Mutation	SNP	G	C3N-00169_TP	23585901	32310597	32133570	176	10134											
EPB41L1	0	.	GRCh38	chr20	36195362	36195362	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacgccgagacacaagcagGaggtactgcatgggacctgt	11	5	13	12	2	0	1	0	0	0	1	0	4	0	3	3	3	3	3	3	3	2	1	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.1483G>T	p.Glu495Ter	p.E495*	ENST00000338074	13/22	493	425	68	541	540	1	strelka-varscan-mutect	EPB41L1,stop_gained,p.Glu495Ter,ENST00000373946,NM_001258329.1;EPB41L1,stop_gained,p.Glu495Ter,ENST00000338074,NM_012156.2;EPB41L1,stop_gained,p.Glu495Ter,ENST00000373941,;EPB41L1,intron_variant,,ENST00000441639,NM_177996.2;EPB41L1,intron_variant,,ENST00000373950,;EPB41L1,intron_variant,,ENST00000202028,NM_001258331.1;EPB41L1,intron_variant,,ENST00000628415,NM_001258330.1;EPB41L1,intron_variant,,ENST00000451082,;EPB41L1,upstream_gene_variant,,ENST00000636016,;EPB41L1,upstream_gene_variant,,ENST00000454226,;	T	ENST00000338074	Transcript	stop_gained,splice_region_variant	1644/6266	1483/2646	495/881	E/*	Gag/Tag		1		1	EPB41L1	HGNC	HGNC:3378	protein_coding	YES	CCDS13271.1	ENSP00000337168	Q9H4G0		UPI0000129AF8	NM_012156.2			13/22		hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF24,PIRSF_domain:PIRSF002304,Pfam_domain:PF04382																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	38	36195362	36195362	G	T	1	0	0	0	0	0	1	0	0	4999	1188	41	2		2	EPB41L1	20	36195362	Nonsense_Mutation	SNP	G	C3N-00169_TP	3884765	36195362	28248805	177	10135											
TNNC2	0	.	GRCh38	chr20	45824383	45824383	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caccatcatgaccaagaactCctcgaagtcgatggtgccgc	11	7	9	14	3	1	2	1	1	0	1	4	4	2	2	4	1	2	0	4	1	3	0	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.223G>C	p.Glu75Gln	p.E75Q	ENST00000372555	4/6	180	161	19	234	234	0	strelka-varscan-mutect	TNNC2,missense_variant,p.Glu60Gln,ENST00000372557,;TNNC2,missense_variant,p.Glu75Gln,ENST00000372555,NM_003279.2;	G	ENST00000372555	Transcript	missense_variant	316/710	223/483	75/160	E/Q	Gag/Cag		1		-1	TNNC2	HGNC	HGNC:11944	protein_coding	YES	CCDS13375.1	ENSP00000361636	P02585		UPI000014A6DB	NM_003279.2	deleterious(0)		4/6		Gene3D:1.10.238.10,Pfam_domain:PF13833,PROSITE_patterns:PS00018,PROSITE_profiles:PS50222,hmmpanther:PTHR23064,SMART_domains:SM00054,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	38	45824383	45824383	C	G	1	0	0	0	0	1	0	0	0	16798	864	30	4		4	TNNC2	20	45824383	Missense_Mutation	SNP	C	C3N-00169_TP	9629021	45824383	18619784	178	10136											
TCFL5	0	.	GRCh38	chr20	62861278	62861278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgcctcgcttagcagcatCatgcgcagctcctggaagtc	7	8	10	16	3	1	0	1	0	0	0	4	1	2	1	3	1	4	5	3	1	2	1	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.393G>A	p.Met131Ile	p.M131I	ENST00000335351	1/6	127	113	14	74	74	0	strelka-varscan-mutect	TCFL5,missense_variant,p.Met131Ile,ENST00000335351,NM_006602.3;TCFL5,missense_variant,p.Met83Ile,ENST00000217162,;	T	ENST00000335351	Transcript	missense_variant	486/2456	393/1503	131/500	M/I	atG/atA		1		-1	TCFL5	HGNC	HGNC:11646	protein_coding	YES	CCDS13506.1	ENSP00000334294	Q9UL49		UPI0000206389	NM_006602.3	deleterious(0.01)		1/6		hmmpanther:PTHR15402:SF2,hmmpanther:PTHR15402																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	38	62861278	62861278	C	T	1	0	0	0	0	1	0	0	0	16106	826	29	3		3	TCFL5	20	62861278	Missense_Mutation	SNP	C	C3N-00169_TP	17036895	62861278	1582889	179	10137											
BHLHE23	0	.	GRCh38	chr20	63006409	63006409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcgccgccgctcgcgcgcGttgatgctgagccgcagaga	6	6	15	14	8	0	3	0	2	0	1	1	4	0	3	3	0	3	4	3	0	0	1	rs746912203		C3N-00169_TP	C3N-00169_NB	G	G																c.366C>A	p.Asn122Lys	p.N122K	ENST00000612929	1/1	242	170	72	287	287	0	strelka-varscan-mutect	BHLHE23,missense_variant,p.Asn122Lys,ENST00000612929,NM_080606.3;BHLHE23,missense_variant,p.Asn106Lys,ENST00000370346,;RP11-305P22.9,upstream_gene_variant,,ENST00000607802,;RP11-305P22.9,upstream_gene_variant,,ENST00000606208,;	T	ENST00000612929	Transcript	missense_variant	627/1109	366/726	122/241	N/K	aaC/aaA	rs746912203	1		-1	BHLHE23	HGNC	HGNC:16093	protein_coding	YES	CCDS33507.2	ENSP00000480998		A0A087WXG3	UPI00024D1415	NM_080606.3	deleterious(0)		1/1		Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF53,SMART_domains:SM00353,Superfamily_domains:SSF47459																	MODERATE		SNV				1										PASS		rs746912203	.												T	3	4	38	63006409	63006409	G	T	1	0	0	0	0	1	0	0	0	1570	1136	40	1		1	BHLHE23	20	63006409	Missense_Mutation	SNP	G	C3N-00169_TP	145131	63006409	1437758	180	10138											
MRPL39	0	.	GRCh38	chr21	25601438	25601438	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctctctatcacacagccCatcatcatagcacaggaacg	12	7	6	16	1	4	0	3	0	1	0	5	1	4	1	2	1	3	1	2	1	3	2	novel		C3N-00169_TP	C3N-00169_NB	C	C																c.450G>C	p.Met150Ile	p.M150I	ENST00000307301	4/11	202	182	20	160	160	0	strelka-varscan-mutect	MRPL39,missense_variant,p.Met150Ile,ENST00000307301,NM_080794.3;MRPL39,missense_variant,p.Met150Ile,ENST00000352957,NM_017446.3;MRPL39,missense_variant,p.Met150Ile,ENST00000419219,;	G	ENST00000307301	Transcript	missense_variant	492/1199	450/1062	150/353	M/I	atG/atC		1		-1	MRPL39	HGNC	HGNC:14027	protein_coding	YES	CCDS33522.1	ENSP00000305682	Q9NYK5		UPI00001AEAC0	NM_080794.3	tolerated(0.07)		4/11		Gene3D:1tkeA02,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF34,Superfamily_domains:SSF55186																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	38	25601438	25601438	C	G	1	0	0	0	0	1	0	0	0	9777	594	21	4		4	MRPL39	21	25601438	Missense_Mutation	SNP	C	C3N-00169_TP		25601438	21108545	181	10139											
TTC3	0	.	GRCh38	chr21	37121841	37121841	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attatcgttattgtgatgctCtttctatgctgggggaatat	8	18	10	5	1	2	1	0	1	2	0	3	2	2	2	0	2	2	3	0	2	5	6			C3N-00169_TP	C3N-00169_NB	C	C																c.925C>G	p.Leu309Val	p.L309V	ENST00000399017	12/46	138	116	22	129	129	0	strelka-varscan-mutect	TTC3,missense_variant,p.Leu309Val,ENST00000399017,NM_003316.3;TTC3,missense_variant,p.Leu309Val,ENST00000354749,;TTC3,missense_variant,p.Leu309Val,ENST00000355666,NM_001001894.1;TTC3,missense_variant,p.Leu309Val,ENST00000418766,;TTC3,missense_variant,p.Leu291Val,ENST00000438055,;TTC3,missense_variant,p.Leu309Val,ENST00000450533,;TTC3,5_prime_UTR_variant,,ENST00000540756,;TTC3,non_coding_transcript_exon_variant,,ENST00000479930,;TTC3,non_coding_transcript_exon_variant,,ENST00000485402,;TTC3,non_coding_transcript_exon_variant,,ENST00000494243,;TTC3,non_coding_transcript_exon_variant,,ENST00000463216,;TTC3,non_coding_transcript_exon_variant,,ENST00000492275,;TTC3,intron_variant,,ENST00000481605,;TTC3,non_coding_transcript_exon_variant,,ENST00000476784,;	G	ENST00000399017	Transcript	missense_variant	3672/10363	925/6078	309/2025	L/V	Ctt/Gtt	COSM1190352	1		1	TTC3	HGNC	HGNC:12393	protein_coding	YES	CCDS13651.1	ENSP00000381981	P53804		UPI00001B043E	NM_003316.3	deleterious(0)		12/46		Gene3D:1.25.40.10,PROSITE_profiles:PS50293,hmmpanther:PTHR17550,hmmpanther:PTHR17550:SF4,SMART_domains:SM00028,Superfamily_domains:SSF48452											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	38	37121841	37121841	C	G	1	0	0	0	0	1	0	0	0	17206	913	32	4		4	TTC3	21	37121841	Missense_Mutation	SNP	C	C3N-00169_TP	11520403	37121841	9588142	182	10140											
TLR7	0	.	GRCh38	chrX	12886395	12886395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagaattaaaagttttacGtctacacagtaactctcttc	14	13	5	9	1	2	1	0	0	2	1	4	2	2	1	0	0	3	2	0	0	6	6	rs748655746		C3N-00169_TP	C3N-00169_NB	G	G																c.887G>T	p.Arg296Leu	p.R296L	ENST00000380659	3/3	100	60	40	97	97	0	strelka-varscan-mutect	TLR7,missense_variant,p.Arg296Leu,ENST00000380659,NM_016562.3;	T	ENST00000380659	Transcript	missense_variant	1026/5011	887/3150	296/1049	R/L	cGt/cTt	rs748655746,COSM219002	1		1	TLR7	HGNC	HGNC:15631	protein_coding	YES	CCDS14151.1	ENSP00000370034	Q9NYK1	B2R9N9	UPI000004BAF6	NM_016562.3	tolerated(0.08)		3/3		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF222,SMART_domains:SM00369,Superfamily_domains:SSF52058											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs748655746	.												T	3	4	38	12886395	12886395	G	T	1	0	0	0	0	1	0	0	0	16402	1145	40	1		1	TLR7	23	12886395	Missense_Mutation	SNP	G	C3N-00169_TP		12886395	143154500	183	10141											
BMX	0	.	GRCh38	chrX	15522494	15522494	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgcaatatgacagcaactCaaagaaaatctatggctccc	16	7	7	11	1	2	2	1	1	1	1	3	2	3	2	1	1	3	3	1	1	7	2			C3N-00169_TP	C3N-00169_NB	C	C																c.659C>G	p.Ser220Ter	p.S220*	ENST00000357607	7/19	180	141	39	200	200	0	strelka-varscan-mutect	BMX,stop_gained,p.Ser220Ter,ENST00000357607,;BMX,stop_gained,p.Ser220Ter,ENST00000348343,NM_001320866.1,NM_203281.2;BMX,stop_gained,p.Ser220Ter,ENST00000342014,NM_001721.6;BMX,downstream_gene_variant,,ENST00000463891,;BMX,upstream_gene_variant,,ENST00000489983,;	G	ENST00000357607	Transcript	stop_gained	847/2598	659/2028	220/675	S/*	tCa/tGa	COSM5594267	1		1	BMX	HGNC	HGNC:1079	protein_coding	YES	CCDS14168.1	ENSP00000350224	P51813		UPI0000000DFF				7/19		hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF91											1						HIGH	1	SNV	2		1	1										PASS		.	.												G	4	3	38	15522494	15522494	C	G	1	0	0	0	0	0	1	0	0	1629	838	29	4		4	BMX	23	15522494	Nonsense_Mutation	SNP	C	C3N-00169_TP	2636099	15522494	140518401	184	10142											
MAP3K15	0	.	GRCh38	chrX	19426317	19426317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taattcccgaatagagggatGactggagttcaaaccctttg	12	11	10	8	1	1	2	1	1	0	1	2	5	2	4	2	2	1	1	2	2	4	5	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.1193C>T	p.Ser398Leu	p.S398L	ENST00000338883	8/29	59	31	28	40	40	0	strelka-varscan-mutect	MAP3K15,missense_variant,p.Ser398Leu,ENST00000338883,NM_001001671.3;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;MAP3K15,missense_variant,p.Ser150Leu,ENST00000359173,;	A	ENST00000338883	Transcript	missense_variant	1193/4012	1193/3942	398/1313	S/L	tCa/tTa		1		-1	MAP3K15	HGNC	HGNC:31689	protein_coding	YES	CCDS35212.2	ENSP00000345629	Q6ZN16		UPI0000E444D0	NM_001001671.3	deleterious(0)		8/29		hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363,Pfam_domain:PF13281																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	38	19426317	19426317	G	A	1	0	0	0	0	1	0	0	0	9171	1294	45	3		3	MAP3K15	23	19426317	Missense_Mutation	SNP	G	C3N-00169_TP	3903823	19426317	136614578	185	10143											
KLHL34	0	.	GRCh38	chrX	21657000	21657000	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctgcatgagcggctggcgGgagggcgtcgtgtggtagtt	4	9	19	9	4	0	1	0	1	0	0	1	2	0	2	1	5	2	4	1	5	1	2	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.789C>A	p.=	p.S263S	ENST00000379499	1/1	19	7	12	20	20	0	strelka-mutect	KLHL34,synonymous_variant,p.=,ENST00000379499,NM_153270.2;CNKSR2,downstream_gene_variant,,ENST00000425654,NM_001168647.1;CNKSR2,downstream_gene_variant,,ENST00000379510,NM_014927.3;	T	ENST00000379499	Transcript	synonymous_variant	1331/3641	789/1935	263/644	S	tcC/tcA		1		-1	KLHL34	HGNC	HGNC:26634	protein_coding	YES	CCDS14199.1	ENSP00000368813	Q8N239		UPI0000072CC4	NM_153270.2			1/1		PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF199																	LOW		SNV				1										PASS		.	.												T	2	4	38	21657000	21657000	G	T	1	0	0	0	0	0	0	0	1	8253	1219	43	2		2	KLHL34	23	21657000	Silent	SNP	G	C3N-00169_TP	2230683	21657000	134383895	186	10144											
DMD	0	.	GRCh38	chrX	31178790	31178790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcaaagtctcgaacatCttctcctgatgtagtctaaa	11	13	7	10	1	4	1	0	1	4	0	6	2	4	1	1	1	1	2	1	1	5	4			C3N-00169_TP	C3N-00169_NB	C	C																c.10102G>T	p.Asp3368Tyr	p.D3368Y	ENST00000357033	70/79	112	59	53	104	104	0	strelka-varscan-mutect	DMD,missense_variant,p.Asp3368Tyr,ENST00000357033,NM_000109.3,NM_004006.2;DMD,missense_variant,p.Asp3364Tyr,ENST00000378677,NM_004010.3,NM_004009.3;DMD,missense_variant,p.Asp3367Tyr,ENST00000620040,;DMD,missense_variant,p.Asp3363Tyr,ENST00000619831,;DMD,missense_variant,p.Asp908Tyr,ENST00000378707,NM_004013.2;DMD,missense_variant,p.Asp908Tyr,ENST00000359836,NM_004022.2;DMD,missense_variant,p.Asp908Tyr,ENST00000541735,NM_004020.3,NM_004023.2;DMD,missense_variant,p.Asp1064Tyr,ENST00000358062,;DMD,missense_variant,p.Asp639Tyr,ENST00000343523,NM_004014.2;DMD,missense_variant,p.Asp908Tyr,ENST00000474231,NM_004021.2;DMD,missense_variant,p.Asp300Tyr,ENST00000378723,NM_004016.2;DMD,missense_variant,p.Asp300Tyr,ENST00000378702,NM_004015.2,NM_004017.2;DMD,missense_variant,p.Asp300Tyr,ENST00000361471,NM_004018.2;DMD,missense_variant,p.Asp300Tyr,ENST00000378680,;DMD,missense_variant,p.Asp158Tyr,ENST00000378705,;DMD,non_coding_transcript_exon_variant,,ENST00000475732,;	A	ENST00000357033	Transcript	missense_variant	10309/13956	10102/11058	3368/3685	D/Y	Gat/Tat	CM070895,DMD:c.10102G>C	1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2	deleterious(0)		70/79		hmmpanther:PTHR11915:SF261,hmmpanther:PTHR11915,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1		1,0	1										PASS		.	.												A	3	1	38	31178790	31178790	C	A	1	0	0	0	0	1	0	0	0	4387	913	32	2		2	DMD	23	31178790	Missense_Mutation	SNP	C	C3N-00169_TP	9521790	31178790	124862105	187	10145											
CFAP47	0	.	GRCh38	chrX	36285727	36285727	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatgacatgtattgctctgGtaagtgcccattgcatgttc	10	14	9	8	0	1	1	0	1	1	0	2	1	1	1	1	1	3	5	1	1	3	5	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.7686+1G>T		p.X2562_splice	ENST00000378653		114	75	39	78	78	0	strelka-varscan-mutect	CFAP47,splice_donor_variant,,ENST00000378653,NM_001304548.1;	T	ENST00000378653	Transcript	splice_donor_variant	-/9943	7686/9564	2562/3187				1		1	CFAP47	HGNC	HGNC:26708	protein_coding			ENSP00000367922		A0A140T8X2	UPI000596DACD	NM_001304548.1				51/63																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	38	36285727	36285727	G	T	1	0	0	0	0	0	0	1	0	3022	1275	44	2		2	CFAP47	23	36285727	Splice_Site	SNP	G	C3N-00169_TP	5106937	36285727	119755168	188	10146											
TEX13A	0	.	GRCh38	chrX	105219534	105219534	+	Frame_Shift_Del	DEL	G	G	-																															tgggggaactgggtctccatGggggcagccccagcctccac																								novel		C3N-00169_TP	C3N-00169_NB	G	G																c.660delC	p.Met221TrpfsTer132	p.M221Wfs*132	ENST00000600991	3/3	107	60	47	102	102	0	sindel-varindel-pindel	TEX13A,frameshift_variant,p.Met221TrpfsTer132,ENST00000600991,NM_031274.4;TEX13A,frameshift_variant,p.Met221TrpfsTer132,ENST00000609007,NM_001291277.1;IL1RAPL2,intron_variant,,ENST00000372582,NM_017416.1;	-	ENST00000600991	Transcript	frameshift_variant	772/1377	660/1230	220/409	P/X	ccC/cc		1		-1	TEX13A	HGNC	HGNC:11735	protein_coding	YES	CCDS76005.1	ENSP00000471604	Q9BXU3		UPI0000042200	NM_031274.4			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR23111:SF25,hmmpanther:PTHR23111																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	38	105219534	105219534	G	-	1	0	1	0	1	0	0	0	0	16197	1335	47	0		0	TEX13A	23	105219534	Frame_Shift_Del	DEL	G	C3N-00169_TP	68933807	105219534	50821361	189	10147											
AGTR2	0	.	GRCh38	chrX	116173214	116173214	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggattcaccaacagcTgcgttaatccgtttctgtat	8	15	8	10	2	3	0	1	0	2	0	4	1	4	1	2	1	3	4	2	1	3	5	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.934T>A	p.Cys312Ser	p.C312S	ENST00000371906	3/3	103	53	50	45	45	0	strelka-varscan-mutect	AGTR2,missense_variant,p.Cys312Ser,ENST00000371906,NM_000686.4;	A	ENST00000371906	Transcript	missense_variant	1124/2882	934/1092	312/363	C/S	Tgc/Agc		1		1	AGTR2	HGNC	HGNC:338	protein_coding	YES	CCDS14569.1	ENSP00000360973	P50052		UPI0000125687	NM_000686.4	deleterious(0.02)		3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF8,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	38	116173214	116173214	T	A	1	0	0	0	0	1	0	0	0	481	1580	55	4		4	AGTR2	23	116173214	Missense_Mutation	SNP	T	C3N-00169_TP	10953680	116173214	39867681	190	10148											
DCAF12L2	0	.	GRCh38	chrX	126165043	126165043	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacaggagcctggatagTgtgctccgggctttccacag	8	9	14	10	1	0	0	0	0	0	0	2	3	2	3	3	4	2	2	3	4	1	2	novel		C3N-00169_TP	C3N-00169_NB	T	T																c.882A>C	p.=	p.T294T	ENST00000360028	1/1	120	66	54	119	119	0	strelka-varscan-mutect	DCAF12L2,synonymous_variant,p.=,ENST00000360028,NM_001013628.2;	G	ENST00000360028	Transcript	synonymous_variant	1055/2599	882/1392	294/463	T	acA/acC		1		-1	DCAF12L2	HGNC	HGNC:32950	protein_coding	YES	CCDS43991.1	ENSP00000353128	Q5VW00		UPI0000197594	NM_001013628.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR19860:SF8,hmmpanther:PTHR19860,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	LOW	1	SNV				1										PASS		rs1244202599	.												G	2	3	38	126165043	126165043	T	G	1	0	0	0	0	0	0	0	1	4066	1683	59	5		5	DCAF12L2	23	126165043	Silent	SNP	T	C3N-00169_TP	9991829	126165043	29875852	191	10149											
SLITRK2	0	.	GRCh38	chrX	145823053	145823053	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacatattggagggatcatgGagattcagctggaggaaaat	15	9	13	4	0	2	1	2	0	0	1	2	6	2	5	0	5	2	1	0	5	4	3	novel		C3N-00169_TP	C3N-00169_NB	G	G																c.628G>T	p.Glu210Ter	p.E210*	ENST00000370490	1/1	169	101	68	169	168	1	strelka-varscan-mutect	SLITRK2,stop_gained,p.Glu210Ter,ENST00000370490,NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2;SLITRK2,stop_gained,p.Glu210Ter,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,NM_004709.2;	T	ENST00000370490	Transcript	stop_gained	4883/7672	628/2538	210/845	E/*	Gag/Tag		1		1	SLITRK2	HGNC	HGNC:13449	protein_coding	YES	CCDS14680.1	ENSP00000359521	Q9H156		UPI000004E64B	NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2			1/1		Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF36,Superfamily_domains:SSF52058																	HIGH	1	SNV				1										PASS		.	.												T	4	4	38	145823053	145823053	G	T	1	0	0	0	0	0	1	0	0	15034	1175	41	2		2	SLITRK2	23	145823053	Nonsense_Mutation	SNP	G	C3N-00169_TP	19658010	145823053	10217842	192	10150											
FAM132A	0	.	GRCh38	chr1	1243529	1243529	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcagaccggagcctcgCaggaaggcaccttgggcagc	9	4	15	13	2	1	1	1	0	0	1	2	3	1	3	3	5	2	4	3	5	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.555G>T	p.=	p.L185L	ENST00000330388	5/8	105	88	17	136	135	1	strelka-varscan-mutect	FAM132A,synonymous_variant,p.=,ENST00000330388,NM_001014980.2;FAM132A,non_coding_transcript_exon_variant,,ENST00000468365,;FAM132A,upstream_gene_variant,,ENST00000462849,;FAM132A,downstream_gene_variant,,ENST00000486627,;FAM132A,upstream_gene_variant,,ENST00000478606,;	A	ENST00000330388	Transcript	synonymous_variant	587/1036	555/909	185/302	L	ctG/ctT		1		-1	FAM132A	HGNC	HGNC:32308	protein_coding	YES	CCDS30554.1	ENSP00000329137	Q5T7M4		UPI00001D7E7A	NM_001014980.2			5/8		PROSITE_profiles:PS50871,hmmpanther:PTHR24019:SF12,hmmpanther:PTHR24019,Superfamily_domains:SSF49842																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	1243529	1243529	C	A	1	0	0	0	0	0	0	0	1	5292	697	25	2		2	FAM132A	1	1243529	Silent	SNP	C	C3N-00175_TP		1243529	247712893	1	10151											
MEGF6	0	.	GRCh38	chr1	3602567	3602567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggctggcggcggcccacCagggtcagctcctgctcagc	5	5	14	17	3	2	0	2	0	0	0	3	0	3	0	3	5	3	3	3	5	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.165G>A	p.=	p.L55L	ENST00000356575	2/37	115	89	26	152	151	1	varscan-mutect	MEGF6,synonymous_variant,p.=,ENST00000356575,NM_001409.3;MEGF6,synonymous_variant,p.=,ENST00000485002,;	T	ENST00000356575	Transcript	synonymous_variant	392/5455	165/4626	55/1541	L	ctG/ctA		1		-1	MEGF6	HGNC	HGNC:3232	protein_coding	YES	CCDS41237.1	ENSP00000348982	O75095		UPI0000DACACB	NM_001409.3			2/37		PROSITE_profiles:PS51041																	LOW	1	SNV	1			1										PASS		rs1413824816	.												T	2	4	39	3602567	3602567	C	T	1	0	0	0	0	0	0	0	1	9402	581	21	3		3	MEGF6	1	3602567	Silent	SNP	C	C3N-00175_TP	2359038	3602567	245353855	2	10152											
CEP104	0	.	GRCh38	chr1	3831164	3831164	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtttgctttcaatggcTgcaccaggtaggatggaata	12	11	12	6	0	1	1	1	0	0	1	1	3	1	3	1	4	2	5	1	4	5	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1718A>T	p.Gln573Leu	p.Q573L	ENST00000378230	13/22	164	125	39	197	197	0	strelka-varscan-mutect	CEP104,missense_variant,p.Gln573Leu,ENST00000378230,NM_014704.3;CEP104,upstream_gene_variant,,ENST00000461667,;CEP104,upstream_gene_variant,,ENST00000438539,;CEP104,downstream_gene_variant,,ENST00000443466,;CEP104,non_coding_transcript_exon_variant,,ENST00000460038,;CEP104,non_coding_transcript_exon_variant,,ENST00000495701,;CEP104,downstream_gene_variant,,ENST00000494653,;	A	ENST00000378230	Transcript	missense_variant	2043/6424	1718/2778	573/925	Q/L	cAg/cTg		1		-1	CEP104	HGNC	HGNC:24866	protein_coding	YES	CCDS30571.1	ENSP00000367476	O60308		UPI0000139AA8	NM_014704.3	deleterious(0.01)		13/22		hmmpanther:PTHR13371:SF0,hmmpanther:PTHR13371,SMART_domains:SM01349,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	3831164	3831164	T	A	1	0	0	0	0	1	0	0	0	2954	1580	55	4		4	CEP104	1	3831164	Missense_Mutation	SNP	T	C3N-00175_TP	228597	3831164	245125258	3	10153											
GPR153	0	.	GRCh38	chr1	6249901	6249901	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccaggtgcgccagggCggccaggtcctcgccggagc	6	3	16	16	4	0	0	0	0	0	0	2	1	1	1	5	5	3	1	5	5	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1267G>T	p.Ala423Ser	p.A423S	ENST00000377893	6/6	15	9	6	15	15	0	strelka-varscan-mutect	GPR153,missense_variant,p.Ala423Ser,ENST00000377893,NM_207370.2;HES3,downstream_gene_variant,,ENST00000377898,NM_001024598.3;	A	ENST00000377893	Transcript	missense_variant	1527/4082	1267/1830	423/609	A/S	Gcc/Tcc		1		-1	GPR153	HGNC	HGNC:23618	protein_coding	YES	CCDS64.1	ENSP00000367125	Q6NV75	A0A0I9QQ03	UPI000040E9D7	NM_207370.2	tolerated_low_confidence(0.23)		6/6		hmmpanther:PTHR16518,hmmpanther:PTHR16518:SF5																	MODERATE	1	SNV	1			1										PASS		rs1241744962	.												A	3	1	39	6249901	6249901	C	A	1	0	0	0	0	1	0	0	0	6545	768	27	1		1	GPR153	1	6249901	Missense_Mutation	SNP	C	C3N-00175_TP	2418737	6249901	242706521	4	10154											
PLEKHG5	0	.	GRCh38	chr1	6468282	6468282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagacggggcgagggtggagGggaaggaactcgtggggact	9	4	23	5	3	0	1	0	0	0	1	1	7	0	5	0	9	1	0	0	9	2	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2791C>A	p.Pro931Thr	p.P931T	ENST00000537245	21/22	68	61	7	100	100	0	strelka-varscan-mutect	PLEKHG5,missense_variant,p.Pro929Thr,ENST00000377748,NM_198681.3;PLEKHG5,missense_variant,p.Pro931Thr,ENST00000537245,NM_001265592.1;PLEKHG5,missense_variant,p.Pro921Thr,ENST00000535355,NM_001265593.1;PLEKHG5,missense_variant,p.Pro852Thr,ENST00000340850,NM_001042664.1;PLEKHG5,missense_variant,p.Pro852Thr,ENST00000400913,NM_001042665.1;PLEKHG5,missense_variant,p.Pro889Thr,ENST00000377732,;PLEKHG5,missense_variant,p.Pro908Thr,ENST00000400915,NM_001042663.1;PLEKHG5,missense_variant,p.Pro852Thr,ENST00000377728,NM_020631.4;PLEKHG5,missense_variant,p.Pro852Thr,ENST00000377725,NM_001265594.1;PLEKHG5,intron_variant,,ENST00000377740,;TNFRSF25,upstream_gene_variant,,ENST00000377782,NM_148965.1;TNFRSF25,upstream_gene_variant,,ENST00000356876,NM_003790.2;TNFRSF25,upstream_gene_variant,,ENST00000351959,NM_148966.1;TNFRSF25,upstream_gene_variant,,ENST00000348333,NM_148967.1;TNFRSF25,upstream_gene_variant,,ENST00000481401,;TNFRSF25,upstream_gene_variant,,ENST00000351748,NM_148970.1;TNFRSF25,upstream_gene_variant,,ENST00000461703,;PLEKHG5,non_coding_transcript_exon_variant,,ENST00000489097,;PLEKHG5,non_coding_transcript_exon_variant,,ENST00000487949,;TNFRSF25,upstream_gene_variant,,ENST00000513135,;TNFRSF25,upstream_gene_variant,,ENST00000485036,;TNFRSF25,upstream_gene_variant,,ENST00000480393,;TNFRSF25,upstream_gene_variant,,ENST00000473343,;TNFRSF25,upstream_gene_variant,,ENST00000414040,;TNFRSF25,upstream_gene_variant,,ENST00000510563,;TNFRSF25,upstream_gene_variant,,ENST00000453260,;TNFRSF25,upstream_gene_variant,,ENST00000502588,;TNFRSF25,upstream_gene_variant,,ENST00000502730,;TNFRSF25,upstream_gene_variant,,ENST00000469691,;TNFRSF25,upstream_gene_variant,,ENST00000453341,;TNFRSF25,upstream_gene_variant,,ENST00000515145,;	T	ENST00000537245	Transcript	missense_variant	2856/4794	2791/3258	931/1085	P/T	Cct/Act		1		-1	PLEKHG5	HGNC	HGNC:29105	protein_coding	YES	CCDS57969.1	ENSP00000439625	O94827		UPI000206539E	NM_001265592.1	tolerated_low_confidence(0.25)		21/22		Low_complexity_(Seg):seg,hmmpanther:PTHR13217,hmmpanther:PTHR13217:SF9																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	39	6468282	6468282	G	T	1	0	0	0	0	1	0	0	0	12166	1232	43	2		2	PLEKHG5	1	6468282	Missense_Mutation	SNP	G	C3N-00175_TP	218381	6468282	242488140	5	10155											
H6PD	0	.	GRCh38	chr1	9263787	9263787	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagctggaaggaaatggagGgaccacctgggctccgcctt	9	6	14	12	1	0	0	0	0	0	0	1	4	1	4	5	5	1	2	5	5	2	1	rs750176902		C3N-00175_TP	C3N-00175_NB	G	G																c.1327G>T	p.Gly443Ter	p.G443*	ENST00000602477	5/5	391	292	99	339	338	1	strelka-varscan-mutect	H6PD,stop_gained,p.Gly432Ter,ENST00000377403,NM_004285.3;H6PD,stop_gained,p.Gly443Ter,ENST00000602477,NM_001282587.1;H6PD,upstream_gene_variant,,ENST00000495451,;	T	ENST00000602477	Transcript	stop_gained	1479/5590	1327/2409	443/802	G/*	Gga/Tga	rs750176902	1		1	H6PD	HGNC	HGNC:4795	protein_coding	YES	CCDS72697.1	ENSP00000473348		R4GMU1	UPI0000D61E40	NM_001282587.1			5/5		hmmpanther:PTHR23429:SF7,hmmpanther:PTHR23429,Pfam_domain:PF02781,Gene3D:3.30.360.10,Superfamily_domains:SSF55347																	HIGH	1	SNV	1			1										PASS		rs750176902	.												T	4	4	39	9263787	9263787	G	T	1	0	0	0	0	0	1	0	0	6818	1233	43	2		2	H6PD	1	9263787	Nonsense_Mutation	SNP	G	C3N-00175_TP	2795505	9263787	239692635	6	10156											
KIF1B	0	.	GRCh38	chr1	10304545	10304545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacttcctatcagaagcaGactgacaaacccagccactg	13	6	7	15	0	1	3	1	1	0	2	2	3	2	3	4	0	3	1	4	0	3	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.3360G>T	p.Gln1120His	p.Q1120H	ENST00000377093	21/21	107	86	21	97	96	1	strelka-varscan-mutect	KIF1B,missense_variant,p.Gln1120His,ENST00000377093,NM_183416.3;KIF1B,missense_variant,p.Gln1120His,ENST00000377083,;KIF1B,intron_variant,,ENST00000377086,;KIF1B,intron_variant,,ENST00000377081,;KIF1B,intron_variant,,ENST00000620295,;KIF1B,intron_variant,,ENST00000622724,;KIF1B,intron_variant,,ENST00000263934,NM_015074.3;RN7SL731P,upstream_gene_variant,,ENST00000584329,;	T	ENST00000377093	Transcript	missense_variant	3513/7565	3360/3462	1120/1153	Q/H	caG/caT		1		1	KIF1B	HGNC	HGNC:16636	protein_coding		CCDS112.1	ENSP00000366297	O60333		UPI0000140CB8	NM_183416.3	tolerated_low_confidence(0.37)		21/21																			MODERATE		SNV	1			1										PASS		.	.												T	3	4	39	10304545	10304545	G	T	1	0	0	0	0	1	0	0	0	8148	933	33	2		2	KIF1B	1	10304545	Missense_Mutation	SNP	G	C3N-00175_TP	1040758	10304545	238651877	7	10157											
TARDBP	0	.	GRCh38	chr1	11018866	11018866	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtgactgcaaacttcctaAttctaaggtacttgcgtctg	9	14	9	9	1	2	1	0	1	2	0	3	1	3	1	1	1	4	2	1	1	4	6	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.536A>T	p.Asn179Ile	p.N179I	ENST00000240185	4/6	581	526	55	547	547	0	strelka-varscan-mutect	TARDBP,missense_variant,p.Asn179Ile,ENST00000240185,NM_007375.3;TARDBP,missense_variant,p.Asn179Ile,ENST00000315091,;TARDBP,missense_variant,p.Asn179Ile,ENST00000629725,;TARDBP,missense_variant,p.Asn179Ile,ENST00000621790,;TARDBP,missense_variant,p.Asn93Ile,ENST00000617172,;TARDBP,missense_variant,p.Asn220Ile,ENST00000476201,;TARDBP,missense_variant,p.Asn179Ile,ENST00000616545,;TARDBP,missense_variant,p.Asn179Ile,ENST00000621715,;TARDBP,missense_variant,p.Asn95Ile,ENST00000622057,;TARDBP,missense_variant,p.Asn179Ile,ENST00000473118,;TARDBP,missense_variant,p.Asn5Ile,ENST00000610369,;RP4-635E18.9,upstream_gene_variant,,ENST00000612542,;TARDBP,upstream_gene_variant,,ENST00000611008,;TARDBP,downstream_gene_variant,,ENST00000613864,;TARDBP,upstream_gene_variant,,ENST00000617757,;TARDBP,upstream_gene_variant,,ENST00000613177,;TARDBP,missense_variant,p.Asn179Ile,ENST00000473869,;RP4-635E18.9,missense_variant,p.Asn179Ile,ENST00000614757,;TARDBP,missense_variant,p.Asn59Ile,ENST00000611963,;TARDBP,missense_variant,p.Asn30Ile,ENST00000620632,;TARDBP,missense_variant,p.Asn30Ile,ENST00000619555,;TARDBP,3_prime_UTR_variant,,ENST00000439080,;TARDBP,3_prime_UTR_variant,,ENST00000472476,;TARDBP,non_coding_transcript_exon_variant,,ENST00000618606,;TARDBP,upstream_gene_variant,,ENST00000621573,;RP4-635E18.9,upstream_gene_variant,,ENST00000611136,;TARDBP,upstream_gene_variant,,ENST00000496840,;TARDBP,upstream_gene_variant,,ENST00000620505,;RP4-635E18.9,upstream_gene_variant,,ENST00000622108,;TARDBP,upstream_gene_variant,,ENST00000614494,;TARDBP,upstream_gene_variant,,ENST00000477447,;	T	ENST00000240185	Transcript	missense_variant	892/5367	536/1245	179/414	N/I	aAt/aTt		1		1	TARDBP	HGNC	HGNC:11571	protein_coding	YES	CCDS122.1	ENSP00000240185	Q13148	A0A024R4E2	UPI0000136B42	NM_007375.3	tolerated(0.13)		4/6		Gene3D:3.30.70.330,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF492,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	11018866	11018866	A	T	1	0	0	0	0	1	0	0	0	15956	101	4	4		4	TARDBP	1	11018866	Missense_Mutation	SNP	A	C3N-00175_TP	714321	11018866	237937556	8	10158											
ANGPTL7	0	.	GRCh38	chr1	11189772	11189772	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttagcagcctgctgagtGaactgaacaagaagcaggag	14	6	12	9	0	0	4	0	3	0	1	0	5	0	5	2	1	6	3	2	1	5	1	rs779217175		C3N-00175_TP	C3N-00175_NB	G	G																c.193G>T	p.Glu65Ter	p.E65*	ENST00000376819	1/5	228	206	22	258	257	1	strelka-varscan-mutect	ANGPTL7,stop_gained,p.Glu65Ter,ENST00000376819,NM_021146.3;MTOR,intron_variant,,ENST00000361445,NM_004958.3;ANGPTL7,upstream_gene_variant,,ENST00000476934,;	T	ENST00000376819	Transcript	stop_gained	432/2238	193/1041	65/346	E/*	Gaa/Taa	rs779217175	1		1	ANGPTL7	HGNC	HGNC:24078	protein_coding	YES	CCDS128.1	ENSP00000366015	O43827		UPI0000035976	NM_021146.3			1/5		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF40																	HIGH	1	SNV	1			1										PASS		rs779217175	.												T	4	4	39	11189772	11189772	G	T	1	0	0	0	0	0	1	0	0	717	1291	45	2		2	ANGPTL7	1	11189772	Nonsense_Mutation	SNP	G	C3N-00175_TP	170906	11189772	237766650	9	10159											
DISP3	0	.	GRCh38	chr1	11502802	11502802	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggagcacccctgcccaaCtactactcagtagatgaccg	10	9	8	14	1	1	2	1	1	0	1	1	3	1	3	4	1	5	2	4	1	4	4	rs746563194		C3N-00175_TP	C3N-00175_NB	C	C																c.1221C>G	p.Asn407Lys	p.N407K	ENST00000294484	3/21	244	193	51	263	263	0	strelka-varscan-mutect	DISP3,missense_variant,p.Asn407Lys,ENST00000294484,NM_020780.1;	G	ENST00000294484	Transcript	missense_variant	1359/5215	1221/4179	407/1392	N/K	aaC/aaG	rs746563194	1		1	DISP3	HGNC	HGNC:29251	protein_coding	YES	CCDS41247.1	ENSP00000294484	Q9P2K9		UPI00001C1D7A	NM_020780.1	tolerated(0.06)		3/21		hmmpanther:PTHR10796:SF125,hmmpanther:PTHR10796																	MODERATE	1	SNV	1			1										PASS		rs746563194	.												G	3	3	39	11502802	11502802	C	G	1	0	0	0	0	1	0	0	0	4347	564	20	4		4	DISP3	1	11502802	Missense_Mutation	SNP	C	C3N-00175_TP	313030	11502802	237453620	10	10160											
AADACL3	0	.	GRCh38	chr1	12725951	12725951	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgcactttccctgctcCatgagaattctgagtgcatt	7	16	7	11	0	2	2	0	2	2	1	4	3	4	2	2	0	3	3	2	0	1	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1179C>T	p.=	p.S393S	ENST00000359318	4/4	104	74	30	131	131	0	strelka-varscan-mutect	AADACL3,synonymous_variant,p.=,ENST00000359318,NM_001103170.2;AADACL3,non_coding_transcript_exon_variant,,ENST00000620146,;	T	ENST00000359318	Transcript	synonymous_variant	1213/3662	1179/1224	393/407	S	tcC/tcT		1		1	AADACL3	HGNC	HGNC:32037	protein_coding	YES	CCDS41253.2	ENSP00000352268	Q5VUY0		UPI0003EAEC70	NM_001103170.2			4/4		Gene3D:3.40.50.1820,PIRSF_domain:PIRSF037251,hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF115,Superfamily_domains:SSF53474																	LOW	1	SNV	3			1										PASS		.	.												T	2	4	39	12725951	12725951	C	T	1	0	0	0	0	0	0	0	1	12	581	21	3		3	AADACL3	1	12725951	Silent	SNP	C	C3N-00175_TP	1223149	12725951	236230471	11	10161											
PRAMEF7	0	.	GRCh38	chr1	12920399	12920399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatgacctggagcccagtCactgcctctgttgaatgcct	7	11	9	14	0	2	2	1	2	1	0	2	3	2	3	5	1	3	1	5	1	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1411C>A	p.His471Asn	p.H471N	ENST00000616979	4/4	215	189	26	254	254	0	varscan-mutect	PRAMEF7,missense_variant,p.His471Asn,ENST00000616979,NM_001012277.4;PRAMEF7,missense_variant,p.His471Asn,ENST00000330881,;RNU6-1072P,upstream_gene_variant,,ENST00000384703,;	A	ENST00000616979	Transcript	missense_variant	1509/1592	1411/1425	471/474	H/N	Cac/Aac		1		1	PRAMEF7	HGNC	HGNC:28415	protein_coding	YES	CCDS30593.1	ENSP00000484237	Q5VXH5		UPI000058F1DF	NM_001012277.4	tolerated(0.08)		4/4		PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	12920399	12920399	C	A	1	0	0	0	0	1	0	0	0	12569	826	29	2		2	PRAMEF7	1	12920399	Missense_Mutation	SNP	C	C3N-00175_TP	194448	12920399	236036023	12	10162											
PRAMEF27	0	.	GRCh38	chr1	13049945	13049945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctcagccctaatttgagCaaatctgttccagcagagag	12	9	9	11	0	2	2	1	1	1	1	3	3	3	2	2	0	4	4	2	0	2	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1300G>T	p.Ala434Ser	p.A434S	ENST00000436041	4/4	627	480	147	619	616	3	strelka-varscan-mutect	PRAMEF27,missense_variant,p.Ala434Ser,ENST00000436041,NM_001300891.1;	A	ENST00000436041	Transcript	missense_variant	1394/1863	1300/1437	434/478	A/S	Gct/Tct		1		-1	PRAMEF27	HGNC	HGNC:51234	protein_coding	YES	CCDS72704.1	ENSP00000393136	A3QJZ7		UPI000387AD89	NM_001300891.1	tolerated(0.11)		4/4		PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF19																	MODERATE	1	SNV	1			1										PASS		rs1196597594	.												A	3	1	39	13049945	13049945	C	A	1	0	0	0	0	1	0	0	0	12565	710	25	2		2	PRAMEF27	1	13049945	Missense_Mutation	SNP	C	C3N-00175_TP	129546	13049945	235906477	13	10163											
PRAMEF15	0	.	GRCh38	chr1	13319940	13319940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttcctcgaaggccacctgGaccagctgctcaggtgaggg	7	8	13	13	1	1	1	1	1	0	0	3	3	2	2	4	4	2	2	4	4	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.862G>T	p.Asp288Tyr	p.D288Y	ENST00000376152	3/4	337	271	66	327	325	2	strelka-varscan-mutect	PRAMEF15,missense_variant,p.Asp288Tyr,ENST00000376152,NM_001098376.2;PRAMEF15,missense_variant,p.Asp286Tyr,ENST00000613530,;RP11-219C24.10,upstream_gene_variant,,ENST00000432559,;	T	ENST00000376152	Transcript	missense_variant	956/1865	862/1437	288/478	D/Y	Gac/Tac		1		1	PRAMEF15	HGNC	HGNC:26764	protein_coding	YES	CCDS44059.1	ENSP00000365322	Q5VWM5		UPI0000199BA7	NM_001098376.2	deleterious(0)		3/4		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF19,PIRSF_domain:PIRSF038286,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		rs1283260890	.												T	3	4	39	13319940	13319940	G	T	1	0	0	0	0	1	0	0	0	12559	1174	41	2		2	PRAMEF15	1	13319940	Missense_Mutation	SNP	G	C3N-00175_TP	269995	13319940	235636482	14	10164											
ZBTB17	0	.	GRCh38	chr1	15942046	15942046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggccctcagccccgtcgcGagggcggaagaccagctccc	6	4	13	18	4	1	1	1	0	0	1	3	3	2	2	5	3	2	1	5	3	1	0			C3N-00175_TP	C3N-00175_NB	G	G																c.2356C>T	p.Arg786Cys	p.R786C	ENST00000375733	16/16	159	140	19	149	149	0	strelka-varscan-mutect	ZBTB17,missense_variant,p.Arg786Cys,ENST00000375733,NM_001287603.1;ZBTB17,missense_variant,p.Arg779Cys,ENST00000375743,NM_003443.2;ZBTB17,missense_variant,p.Arg697Cys,ENST00000537142,NM_001324137.1,NM_001287604.1,NM_001242884.1;ZBTB17,missense_variant,p.Arg186Cys,ENST00000440560,;SPEN,downstream_gene_variant,,ENST00000375759,NM_015001.2;ZBTB17,downstream_gene_variant,,ENST00000444358,;ZBTB17,non_coding_transcript_exon_variant,,ENST00000462525,;ZBTB17,downstream_gene_variant,,ENST00000479282,;ZBTB17,downstream_gene_variant,,ENST00000492834,;ZBTB17,downstream_gene_variant,,ENST00000494020,;ZBTB17,downstream_gene_variant,,ENST00000474511,;ZBTB17,downstream_gene_variant,,ENST00000490899,;ZBTB17,downstream_gene_variant,,ENST00000472658,;ZBTB17,downstream_gene_variant,,ENST00000471805,;SPEN,downstream_gene_variant,,ENST00000487496,;ZBTB17,downstream_gene_variant,,ENST00000464719,;ZBTB17,downstream_gene_variant,,ENST00000488008,;ZBTB17,downstream_gene_variant,,ENST00000487785,;	A	ENST00000375733	Transcript	missense_variant	2595/2770	2356/2433	786/810	R/C	Cgc/Tgc	COSM4576515,COSM4576516	1		-1	ZBTB17	HGNC	HGNC:12936	protein_coding	YES	CCDS72712.1	ENSP00000364885	Q13105		UPI00005054F0	NM_001287603.1	deleterious_low_confidence(0)		16/16		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF165											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1350046192	.												A	3	1	39	15942046	15942046	G	A	1	0	0	0	0	1	0	0	0	18094	1058	37	1		1	ZBTB17	1	15942046	Missense_Mutation	SNP	G	C3N-00175_TP	2622106	15942046	233014376	15	10165											
CROCC	0	.	GRCh38	chr1	16944267	16944267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatggcgcgcgggtgcgccGggagcttgagcgcaggtgag	5	5	22	9	6	0	2	0	2	0	0	0	4	0	4	1	5	3	2	1	5	0	1	rs369407665		C3N-00175_TP	C3N-00175_NB	G	G																c.1976G>T	p.Arg659Leu	p.R659L	ENST00000375541	14/37	88	78	10	96	96	0	strelka-varscan-mutect	CROCC,missense_variant,p.Arg659Leu,ENST00000375541,NM_014675.4;CROCC,missense_variant,p.Arg519Leu,ENST00000445545,;CROCC,missense_variant,p.Arg553Leu,ENST00000467938,;CROCC,downstream_gene_variant,,ENST00000467715,;CROCC,non_coding_transcript_exon_variant,,ENST00000492631,;CROCC,non_coding_transcript_exon_variant,,ENST00000486318,;CROCC,downstream_gene_variant,,ENST00000466256,;CROCC,upstream_gene_variant,,ENST00000477773,;CROCC,upstream_gene_variant,,ENST00000498688,;CROCC,non_coding_transcript_exon_variant,,ENST00000494191,;	T	ENST00000375541	Transcript	missense_variant	2045/6656	1976/6054	659/2017	R/L	cGg/cTg	rs369407665	1		1	CROCC	HGNC	HGNC:21299	protein_coding	YES	CCDS30616.1	ENSP00000364691	Q5TZA2		UPI000042B0BB	NM_014675.4	deleterious(0.03)		14/37		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF17																	MODERATE	1	SNV	5			1										PASS		rs369407665	.												T	3	4	39	16944267	16944267	G	T	1	0	0	0	0	1	0	0	0	3694	1116	39	1		1	CROCC	1	16944267	Missense_Mutation	SNP	G	C3N-00175_TP	1002221	16944267	232012155	16	10166											
KLHDC7A	0	.	GRCh38	chr1	18483170	18483170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctactgcgtgggacGccggagcaccctctgcttcc	5	9	10	17	3	3	0	1	0	2	0	4	2	4	2	4	2	4	2	4	2	1	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2189G>T	p.Arg730Leu	p.R730L	ENST00000400664	1/1	330	243	87	326	326	0	strelka-varscan-mutect	KLHDC7A,missense_variant,p.Arg730Leu,ENST00000400664,NM_152375.2;	T	ENST00000400664	Transcript	missense_variant	2189/5145	2189/2334	730/777	R/L	cGc/cTc		1		1	KLHDC7A	HGNC	HGNC:26791	protein_coding	YES	CCDS185.2	ENSP00000383505	Q5VTJ3		UPI0000E0501F	NM_152375.2	deleterious(0)		1/1		Superfamily_domains:0052715,Gene3D:1zgkA00,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF242																	MODERATE	1	SNV				1										PASS		rs1467344706	.												T	3	4	39	18483170	18483170	G	T	1	0	0	0	0	1	0	0	0	8224	1087	38	1		1	KLHDC7A	1	18483170	Missense_Mutation	SNP	G	C3N-00175_TP	1538903	18483170	230473252	17	10167											
NBL1	0	.	GRCh38	chr1	19657028	19657028	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggatcccagcccggcaccCaccctcacccccatccccac	7	3	6	25	2	1	0	1	0	0	0	3	1	3	1	8	2	1	1	8	2	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.550C>A	p.His184Asn	p.H184N	ENST00000289749	4/4	70	54	16	82	82	0	strelka-varscan-mutect	NBL1,missense_variant,p.His149Asn,ENST00000375136,NM_005380.7;NBL1,missense_variant,p.His183Asn,ENST00000615215,NM_001204086.2;NBL1,missense_variant,p.His149Asn,ENST00000621723,NM_001204084.2;NBL1,missense_variant,p.His149Asn,ENST00000622566,NM_001278165.1;NBL1,missense_variant,p.His149Asn,ENST00000618761,NM_001204085.1;NBL1,missense_variant,p.His149Asn,ENST00000548815,NM_001278164.1,NM_001278166.1;MINOS1-NBL1,missense_variant,p.His149Asn,ENST00000602662,NM_001204089.1;NBL1,missense_variant,p.His184Asn,ENST00000289749,NM_182744.3;NBL1,missense_variant,p.His148Asn,ENST00000427894,;NBL1,downstream_gene_variant,,ENST00000451758,;NBL1,downstream_gene_variant,,ENST00000439664,;NBL1,downstream_gene_variant,,ENST00000439278,;NBL1,downstream_gene_variant,,ENST00000428975,;NBL1,downstream_gene_variant,,ENST00000425400,;MINOS1-NBL1,downstream_gene_variant,,ENST00000602384,;MINOS1-NBL1,downstream_gene_variant,,ENST00000602293,;MINOS1-NBL1,downstream_gene_variant,,ENST00000602450,;	A	ENST00000289749	Transcript	missense_variant	630/731	550/651	184/216	H/N	Cac/Aac		1		1	NBL1	HGNC	HGNC:7650	protein_coding	YES	CCDS41278.1	ENSP00000289749	P41271		UPI000020459F	NM_182744.3	tolerated_low_confidence(0.23)		4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR15283:SF5,hmmpanther:PTHR15283,PIRSF_domain:PIRSF018557																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	19657028	19657028	C	A	1	0	0	0	0	1	0	0	0	10201	594	21	2		2	NBL1	1	19657028	Missense_Mutation	SNP	C	C3N-00175_TP	1173858	19657028	229299394	18	10168											
PLA2G2F	0	.	GRCh38	chr1	20140197	20140197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaagaagttcttcaccGtggccatccttgctggcagc	8	11	11	11	1	2	2	1	1	1	1	3	2	3	2	3	2	2	4	3	2	3	4	rs759630010		C3N-00175_TP	C3N-00175_NB	G	G																c.148G>A	p.Val50Met	p.V50M	ENST00000375102	2/5	132	103	29	131	131	0	strelka-varscan-mutect	PLA2G2F,missense_variant,p.Val50Met,ENST00000375102,NM_022819.3;PLA2G2F,non_coding_transcript_exon_variant,,ENST00000465062,;	A	ENST00000375102	Transcript	missense_variant	250/2723	148/636	50/211	V/M	Gtg/Atg	rs759630010,COSM314198,COSM4437270	1		1	PLA2G2F	HGNC	HGNC:30040	protein_coding	YES	CCDS204.2	ENSP00000364243	Q9BZM2		UPI0000044C9D	NM_022819.3	tolerated(0.2)		2/5		hmmpanther:PTHR11716,hmmpanther:PTHR11716:SF8											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs759630010	.												A	3	1	39	20140197	20140197	G	A	1	0	0	0	0	1	0	0	0	12095	1145	40	1		1	PLA2G2F	1	20140197	Missense_Mutation	SNP	G	C3N-00175_TP	483169	20140197	228816225	19	10169											
EIF4G3	0	.	GRCh38	chr1	20862268	20862268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagcatgaaccgaatcCtagatgaggtttttctttct	10	15	8	8	1	2	4	0	3	2	1	3	5	3	4	2	1	2	2	2	1	4	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3011G>T	p.Arg1004Met	p.R1004M	ENST00000400422	21/35	78	64	14	104	104	0	strelka-varscan-mutect	EIF4G3,missense_variant,p.Arg974Met,ENST00000602326,NM_001198802.1;EIF4G3,missense_variant,p.Arg968Met,ENST00000264211,NM_003760.4;EIF4G3,missense_variant,p.Arg1004Met,ENST00000400422,NM_001198801.1;EIF4G3,missense_variant,p.Arg688Met,ENST00000374935,;EIF4G3,missense_variant,p.Arg1157Met,ENST00000634879,;	A	ENST00000400422	Transcript	missense_variant	3592/5762	3011/4866	1004/1621	R/M	aGg/aTg		1		-1	EIF4G3	HGNC	HGNC:3298	protein_coding	YES	CCDS72723.1	ENSP00000383274		A0A0A0MSA7	UPI0000D4C1EC	NM_001198801.1	deleterious(0)		21/35		Gene3D:1.25.40.180,Pfam_domain:PF02854,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23,SMART_domains:SM00543,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	20862268	20862268	C	A	1	0	0	0	0	1	0	0	0	4871	681	24	2		2	EIF4G3	1	20862268	Missense_Mutation	SNP	C	C3N-00175_TP	722071	20862268	228094154	20	10170											
LACTBL1	0	.	GRCh38	chr1	22953862	22953862	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgccgtagaagcccgcGgccaggcgcgcgcgcacgtc	5	3	15	18	9	0	1	0	0	0	1	1	1	0	1	4	2	2	3	4	2	2	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.822C>A	p.=	p.A274A	ENST00000426928	6/6	250	180	70	257	257	0	strelka-varscan-mutect	LACTBL1,synonymous_variant,p.=,ENST00000426928,NM_001289974.1;LACTBL1,synonymous_variant,p.=,ENST00000618559,;	T	ENST00000426928	Transcript	synonymous_variant	822/1641	822/1641	274/546	A	gcC/gcA		1		-1	LACTBL1	HGNC	HGNC:35445	protein_coding	YES		ENSP00000402297		H0Y608	UPI0002A47099	NM_001289974.1			6/6		hmmpanther:PTHR22935:SF64,hmmpanther:PTHR22935,Gene3D:3.40.710.10,Pfam_domain:PF00144,Superfamily_domains:SSF56601																	LOW	1	SNV	5			1										PASS		rs754181158	.												T	2	4	39	22953862	22953862	G	T	1	0	0	0	0	0	0	0	1	8502	1103	39	1		1	LACTBL1	1	22953862	Silent	SNP	G	C3N-00175_TP	2091594	22953862	226002560	21	10171											
SRSF10	0	.	GRCh38	chr1	23971149	23971149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggtttatactatcagtggCcactggacttaggactagtc	10	13	10	8	0	1	0	1	0	0	0	2	2	1	2	1	4	1	1	1	4	5	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.782G>A	p.Gly261Asp	p.G261D	ENST00000492112	6/6	69	53	16	95	95	0	strelka-varscan-mutect	SRSF10,missense_variant,p.Gly260Asp,ENST00000343255,NM_001191005.2;SRSF10,missense_variant,p.Gly261Asp,ENST00000492112,NM_054016.3;SRSF10,intron_variant,,ENST00000344989,NM_006625.5,NM_001300937.1;SRSF10,intron_variant,,ENST00000453840,NM_001191007.2;SRSF10,intron_variant,,ENST00000374452,NM_001191006.2;SRSF10,intron_variant,,ENST00000484146,NM_001191009.2;SRSF10,intron_variant,,ENST00000374453,NM_001300936.1;SRSF10,non_coding_transcript_exon_variant,,ENST00000338597,;SRSF10,intron_variant,,ENST00000341154,;SRSF10,downstream_gene_variant,,ENST00000473754,;SRSF10,non_coding_transcript_exon_variant,,ENST00000485841,;SRSF10,intron_variant,,ENST00000473858,;SRSF10,downstream_gene_variant,,ENST00000495785,;	T	ENST00000492112	Transcript	missense_variant	846/1631	782/789	261/262	G/D	gGc/gAc		1		-1	SRSF10	HGNC	HGNC:16713	protein_coding	YES	CCDS30630.1	ENSP00000420195	O75494	A0A0S2Z504	UPI000005FB30	NM_054016.3	deleterious_low_confidence(0.01)		6/6		hmmpanther:PTHR23147,hmmpanther:PTHR23147:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	23971149	23971149	C	T	1	0	0	0	0	1	0	0	0	15536	739	26	3		3	SRSF10	1	23971149	Missense_Mutation	SNP	C	C3N-00175_TP	1017287	23971149	224985273	22	10172											
AIM1L	0	.	GRCh38	chr1	26346495	26346495	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctcgacggctgaactcaaAcatctccttctgcggggctt	7	11	9	14	3	4	1	1	1	3	0	6	2	4	1	1	3	3	2	1	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.163T>A	p.Phe55Ile	p.F55I	ENST00000308182	2/20	111	84	27	164	163	1	strelka-varscan-mutect	AIM1L,missense_variant,p.Phe55Ile,ENST00000308182,NM_001039775.3;AIM1L,missense_variant,p.Phe55Ile,ENST00000475866,;AIM1L,upstream_gene_variant,,ENST00000527815,;AIM1L,intron_variant,,ENST00000374207,;	T	ENST00000308182	Transcript	missense_variant	313/5245	163/4986	55/1661	F/I	Ttt/Att		1		-1	AIM1L	HGNC	HGNC:17295	protein_coding	YES		ENSP00000310435	Q8N1P7		UPI0001DD21C3	NM_001039775.3	deleterious_low_confidence(0.01)		2/20																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	26346495	26346495	A	T	1	0	0	0	0	1	0	0	0	508	43	2	4		4	AIM1L	1	26346495	Missense_Mutation	SNP	A	C3N-00175_TP	2375346	26346495	222609927	23	10173											
SLC9A1	0	.	GRCh38	chr1	27100474	27100474	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgctccgcatcatgatgcCcccatcgtcgtcctcgtcct	4	12	7	18	4	1	1	1	1	0	0	7	1	4	1	5	0	2	2	5	0	0	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2281G>T	p.Gly761Cys	p.G761C	ENST00000263980	12/12	134	104	30	144	144	0	strelka-varscan-mutect	SLC9A1,missense_variant,p.Gly761Cys,ENST00000263980,NM_003047.4;SLC9A1,downstream_gene_variant,,ENST00000374086,;SLC9A1,upstream_gene_variant,,ENST00000490329,;SLC9A1,non_coding_transcript_exon_variant,,ENST00000374089,;SLC9A1,non_coding_transcript_exon_variant,,ENST00000447808,;	A	ENST00000263980	Transcript	missense_variant	2857/4516	2281/2448	761/815	G/C	Ggc/Tgc		1		-1	SLC9A1	HGNC	HGNC:11071	protein_coding	YES	CCDS295.1	ENSP00000263980	P19634		UPI000012FD1B	NM_003047.4	deleterious(0)		12/12		hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF59																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	27100474	27100474	C	A	1	0	0	0	0	1	0	0	0	14993	623	22	2		2	SLC9A1	1	27100474	Missense_Mutation	SNP	C	C3N-00175_TP	753979	27100474	221855948	24	10174											
COL16A1	0	.	GRCh38	chr1	31652819	31652819	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccattggtcctgttgcAcccatcttgccatagcctgg	5	12	10	14	0	1	0	0	0	1	0	2	0	2	0	5	3	3	2	5	3	1	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.4647T>A	p.=	p.G1549G	ENST00000373672	71/71	64	53	11	77	77	0	strelka-varscan-mutect	COL16A1,synonymous_variant,p.=,ENST00000373672,NM_001856.3;COL16A1,downstream_gene_variant,,ENST00000440437,;RP11-73M7.6,intron_variant,,ENST00000610043,;RP11-73M7.6,intron_variant,,ENST00000591929,;RP11-73M7.6,intron_variant,,ENST00000585413,;RP11-73M7.6,intron_variant,,ENST00000609549,;RP11-73M7.6,intron_variant,,ENST00000609033,;RP11-73M7.6,intron_variant,,ENST00000589462,;RP11-73M7.6,intron_variant,,ENST00000609625,;RP11-73M7.6,intron_variant,,ENST00000607926,;RP11-73M7.6,intron_variant,,ENST00000587445,;RP11-73M7.6,intron_variant,,ENST00000585660,;RP11-73M7.6,intron_variant,,ENST00000610216,;RP11-73M7.6,intron_variant,,ENST00000623791,;RP11-73M7.6,intron_variant,,ENST00000609373,;RP11-73M7.6,intron_variant,,ENST00000608246,;RP11-73M7.6,intron_variant,,ENST00000593188,;RP11-73M7.6,intron_variant,,ENST00000623425,;RP11-73M7.6,intron_variant,,ENST00000608888,;RP11-73M7.6,intron_variant,,ENST00000624388,;RP11-73M7.6,intron_variant,,ENST00000608332,;RP11-73M7.6,intron_variant,,ENST00000591592,;RP11-73M7.6,intron_variant,,ENST00000609338,;RP11-73M7.6,upstream_gene_variant,,ENST00000623786,;RP11-73M7.6,upstream_gene_variant,,ENST00000588288,;RP11-73M7.9,downstream_gene_variant,,ENST00000581333,;RP11-73M7.6,upstream_gene_variant,,ENST00000445166,;COL16A1,downstream_gene_variant,,ENST00000461217,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488128,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488897,;	T	ENST00000373672	Transcript	synonymous_variant	5164/5736	4647/4815	1549/1604	G	ggT/ggA		1		-1	COL16A1	HGNC	HGNC:2193	protein_coding	YES	CCDS41297.1	ENSP00000362776	Q07092		UPI0000203DD1	NM_001856.3			71/71		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF372,hmmpanther:PTHR24023																	LOW		SNV	5			1										PASS		.	.												T	2	4	39	31652819	31652819	A	T	1	0	0	0	0	0	0	0	1	3461	146	6	4		4	COL16A1	1	31652819	Silent	SNP	A	C3N-00175_TP	4552345	31652819	217303603	25	10175											
ADGRB2	0	.	GRCh38	chr1	31756468	31756468	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctggccgccccacctcTgactccgcctgggccaccgc	3	8	9	21	3	3	1	0	1	3	0	4	1	4	1	8	2	0	0	8	2	0	1	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.369A>T	p.=	p.S123S	ENST00000373655	4/33	105	85	20	140	140	0	strelka-varscan-mutect	ADGRB2,synonymous_variant,p.=,ENST00000373658,;ADGRB2,synonymous_variant,p.=,ENST00000373655,NM_001294335.1;ADGRB2,synonymous_variant,p.=,ENST00000398542,;ADGRB2,synonymous_variant,p.=,ENST00000527361,NM_001294336.1;ADGRB2,synonymous_variant,p.=,ENST00000398556,;ADGRB2,synonymous_variant,p.=,ENST00000398547,;ADGRB2,synonymous_variant,p.=,ENST00000398538,;ADGRB2,synonymous_variant,p.=,ENST00000420125,;ADGRB2,synonymous_variant,p.=,ENST00000533175,;ADGRB2,downstream_gene_variant,,ENST00000436464,;MIR4254,downstream_gene_variant,,ENST00000581063,;ADGRB2,upstream_gene_variant,,ENST00000530134,;	A	ENST00000373655	Transcript	synonymous_variant	711/5400	369/4755	123/1584	S	tcA/tcT		1		-1	ADGRB2	HGNC	HGNC:944	protein_coding	YES	CCDS72747.1	ENSP00000362759	O60241		UPI000046FEC7	NM_001294335.1			4/33																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	31756468	31756468	T	A	1	0	0	0	0	0	0	0	1	356	1567	55	4		4	ADGRB2	1	31756468	Silent	SNP	T	C3N-00175_TP	103649	31756468	217199954	26	10176											
SPOCD1	0	.	GRCh38	chr1	31792308	31792308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctccacagaggccagccCgtggcgctgcctatcattga	7	8	12	14	2	1	2	1	1	0	1	2	2	2	2	4	2	3	2	4	2	1	2	rs751875735		C3N-00175_TP	C3N-00175_NB	C	C																c.2869G>T	p.Gly957Trp	p.G957W	ENST00000360482	15/16	332	298	34	371	370	1	strelka-varscan-mutect	SPOCD1,missense_variant,p.Gly957Trp,ENST00000360482,NM_144569.5;SPOCD1,missense_variant,p.Gly957Trp,ENST00000533231,NM_001281987.1;SPOCD1,missense_variant,p.Gly450Trp,ENST00000257100,NM_001281988.1;SPOCD1,missense_variant,p.Gly393Trp,ENST00000452755,;SPOCD1,downstream_gene_variant,,ENST00000528579,;RP11-84A19.3,downstream_gene_variant,,ENST00000527035,;SPOCD1,intron_variant,,ENST00000473361,;SPOCD1,downstream_gene_variant,,ENST00000485944,;SPOCD1,downstream_gene_variant,,ENST00000468720,;SPOCD1,downstream_gene_variant,,ENST00000460061,;SPOCD1,downstream_gene_variant,,ENST00000531039,;SPOCD1,downstream_gene_variant,,ENST00000532604,;	A	ENST00000360482	Transcript	missense_variant	2999/3960	2869/3651	957/1216	G/W	Ggg/Tgg	rs751875735	1		-1	SPOCD1	HGNC	HGNC:26338	protein_coding	YES	CCDS347.1	ENSP00000353670	Q6ZMY3		UPI000035E7DD	NM_144569.5	deleterious(0)		15/16		hmmpanther:PTHR11477:SF18,hmmpanther:PTHR11477,Pfam_domain:PF07744																	MODERATE	1	SNV	2			1										PASS		rs751875735	.												A	3	1	39	31792308	31792308	C	A	1	0	0	0	0	1	0	0	0	15431	652	23	1		1	SPOCD1	1	31792308	Missense_Mutation	SNP	C	C3N-00175_TP	35840	31792308	217164114	27	10177											
RBBP4	0	.	GRCh38	chr1	32669560	32669560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacataaggatgaaatattCcaggtaagagaaactaatgc	18	9	8	6	0	1	2	1	1	0	1	2	4	2	3	1	2	2	1	1	2	6	5			C3N-00175_TP	C3N-00175_NB	C	C																c.963C>A	p.Phe321Leu	p.F321L	ENST00000373493	8/12	43	37	6	68	68	0	strelka-varscan-mutect	RBBP4,missense_variant,p.Phe321Leu,ENST00000373493,NM_005610.2;RBBP4,missense_variant,p.Phe320Leu,ENST00000414241,NM_001135255.1;RBBP4,missense_variant,p.Phe286Leu,ENST00000458695,NM_001135256.1;RBBP4,missense_variant,p.Phe321Leu,ENST00000373485,;RBBP4,missense_variant,p.Phe81Leu,ENST00000463378,;RBBP4,missense_variant,p.Phe124Leu,ENST00000475321,;RBBP4,missense_variant,p.Phe59Leu,ENST00000482190,;RBBP4,downstream_gene_variant,,ENST00000445722,;RBBP4,downstream_gene_variant,,ENST00000524393,;RBBP4,missense_variant,p.Phe76Leu,ENST00000460669,;RBBP4,3_prime_UTR_variant,,ENST00000492348,;RBBP4,downstream_gene_variant,,ENST00000401893,;RBBP4,downstream_gene_variant,,ENST00000527118,;RBBP4,downstream_gene_variant,,ENST00000526193,;RBBP4,downstream_gene_variant,,ENST00000477563,;RBBP4,downstream_gene_variant,,ENST00000531983,;	A	ENST00000373493	Transcript	missense_variant	1122/7943	963/1278	321/425	F/L	ttC/ttA	COSM4514113	1		1	RBBP4	HGNC	HGNC:9887	protein_coding	YES	CCDS366.1	ENSP00000362592	Q09028		UPI000013318C	NM_005610.2	tolerated(0.54)		8/12		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF90,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	39	32669560	32669560	C	A	1	0	0	0	0	1	0	0	0	13262	869	30	2		2	RBBP4	1	32669560	Missense_Mutation	SNP	C	C3N-00175_TP	877252	32669560	216286862	28	10178											
C1orf94	0	.	GRCh38	chr1	34197806	34197806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacctcctcctgcacgtcCtgacaagctccctgagctcc	6	8	7	20	2	0	2	0	2	0	0	5	3	5	2	7	0	3	3	7	0	1	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.902C>A	p.Pro301His	p.P301H	ENST00000488417	2/7	330	255	75	383	383	0	strelka-varscan-mutect	C1orf94,missense_variant,p.Pro301His,ENST00000488417,NM_001134734.1;C1orf94,missense_variant,p.Pro111His,ENST00000373374,NM_032884.4;	A	ENST00000488417	Transcript	missense_variant	1022/2287	902/1797	301/598	P/H	cCt/cAt		1		1	C1orf94	HGNC	HGNC:28250	protein_coding	YES	CCDS44108.1	ENSP00000435634	Q6P1W5		UPI0000D4BFB0	NM_001134734.1	deleterious(0.02)		2/7		Low_complexity_(Seg):seg,hmmpanther:PTHR35674,hmmpanther:PTHR35674:SF1,Pfam_domain:PF15752																	MODERATE	1	SNV	1			1										PASS		rs1208422637	.												A	3	1	39	34197806	34197806	C	A	1	0	0	0	0	1	0	0	0	2000	681	24	2		2	C1orf94	1	34197806	Missense_Mutation	SNP	C	C3N-00175_TP	1528246	34197806	214758616	29	10179											
SH3D21	0	.	GRCh38	chr1	36319483	36319483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggttcgtatcaccctGgccgaaagcgatccaaaacc	10	7	12	12	3	1	0	1	0	0	0	3	2	2	0	4	3	2	2	4	3	4	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.625G>T	p.Gly209Cys	p.G209C	ENST00000505871	10/13	183	144	39	252	252	0	strelka-varscan-mutect	SH3D21,missense_variant,p.Gly320Cys,ENST00000453908,NM_001162530.1;SH3D21,missense_variant,p.Gly209Cys,ENST00000505871,NM_024676.4;SH3D21,missense_variant,p.Gly320Cys,ENST00000373139,;EVA1B,downstream_gene_variant,,ENST00000270824,NM_018166.2,NM_001304762.1;RP11-268J15.5,upstream_gene_variant,,ENST00000373137,;SH3D21,intron_variant,,ENST00000508854,;SH3D21,upstream_gene_variant,,ENST00000474766,;EVA1B,downstream_gene_variant,,ENST00000490466,;SH3D21,intron_variant,,ENST00000480549,;	T	ENST00000505871	Transcript	missense_variant	789/2206	625/1938	209/645	G/C	Ggc/Tgc		1		1	SH3D21	HGNC	HGNC:26236	protein_coding	YES	CCDS30674.2	ENSP00000421294	A4FU49		UPI00017A7573	NM_024676.4	deleterious(0)		10/13		hmmpanther:PTHR14167,hmmpanther:PTHR14167:SF28																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	39	36319483	36319483	G	T	1	0	0	0	0	1	0	0	0	14508	1348	47	2		2	SH3D21	1	36319483	Missense_Mutation	SNP	G	C3N-00175_TP	2121677	36319483	212636939	30	10180											
HIVEP3	0	.	GRCh38	chr1	41513195	41513195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtgcaggccaggtgggCttggggctgaggcctgtggt	4	8	19	10	1	0	1	0	1	0	0	0	1	0	1	3	7	1	3	3	7	0	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.6026G>T	p.Ser2009Ile	p.S2009I	ENST00000372583	8/9	95	75	20	118	118	0	strelka-varscan-mutect	HIVEP3,missense_variant,p.Ser2009Ile,ENST00000372584,NM_001127714.2;HIVEP3,missense_variant,p.Ser2009Ile,ENST00000372583,NM_024503.4;HIVEP3,non_coding_transcript_exon_variant,,ENST00000460604,;	A	ENST00000372583	Transcript	missense_variant	6912/12193	6026/7221	2009/2406	S/I	aGc/aTc		1		-1	HIVEP3	HGNC	HGNC:13561	protein_coding	YES	CCDS463.1	ENSP00000361664	Q5T1R4		UPI000013CC24	NM_024503.4	tolerated(0.1)		8/9		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	41513195	41513195	C	A	1	0	0	0	0	1	0	0	0	7077	797	28	2		2	HIVEP3	1	41513195	Missense_Mutation	SNP	C	C3N-00175_TP	5193712	41513195	207443227	31	10181											
HIVEP3	0	.	GRCh38	chr1	41583002	41583002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcctcagaactgtattccCctcccaaaggtaattcgatt	10	12	6	13	1	1	1	1	0	0	1	5	2	4	1	4	1	1	3	4	1	4	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1796G>T	p.Gly599Val	p.G599V	ENST00000372583	4/9	174	130	44	186	186	0	strelka-varscan-mutect	HIVEP3,missense_variant,p.Gly599Val,ENST00000372584,NM_001127714.2;HIVEP3,missense_variant,p.Gly599Val,ENST00000372583,NM_024503.4;HIVEP3,upstream_gene_variant,,ENST00000460604,;	A	ENST00000372583	Transcript	missense_variant	2682/12193	1796/7221	599/2406	G/V	gGg/gTg		1		-1	HIVEP3	HGNC	HGNC:13561	protein_coding	YES	CCDS463.1	ENSP00000361664	Q5T1R4		UPI000013CC24	NM_024503.4	tolerated(0.54)		4/9		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	41583002	41583002	C	A	1	0	0	0	0	1	0	0	0	7077	623	22	2		2	HIVEP3	1	41583002	Missense_Mutation	SNP	C	C3N-00175_TP	69807	41583002	207373420	32	10182											
KLF17	0	.	GRCh38	chr1	44130718	44130720	+	In_Frame_Del	DEL	AAT	AAT	-																															acccacaggccaacaacaacAatggagagcaggacagtcct																								novel		C3N-00175_TP	C3N-00175_NB	AAT	AAT																c.1132_1134delAAT	p.Asn378del	p.N378del	ENST00000372299	3/4	241	188	53	290	290	0	sindel-varindel-pindel	KLF17,inframe_deletion,p.Asn378del,ENST00000372299,NM_173484.3;KLF17,downstream_gene_variant,,ENST00000476802,;	-	ENST00000372299	Transcript	inframe_deletion	1190-1192/3131	1132-1134/1170	378/389	N/-	AAT/-		1		1	KLF17	HGNC	HGNC:18830	protein_coding	YES	CCDS508.1	ENSP00000361373	Q5JT82		UPI000013E95E	NM_173484.3			3/4																			MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	39	44130718	44130718	AAT	-	1	0	1	0	1	0	0	0	0	8210	130	5	0		0	KLF17	1	44130718	In_Frame_Del	DEL	AAT	C3N-00175_TP	2547716	44130718	204825704	33	10183											
FOXD2	0	.	GRCh38	chr1	47438486	47438486	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggccgggaccgccgtcgggGggcgcggcgacgcggagccc	3	1	22	15	9	0	0	0	0	0	0	1	3	0	2	4	7	1	0	4	7	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.351G>T	p.=	p.G117G	ENST00000334793	1/1	169	136	33	170	170	0	strelka-varscan-mutect	FOXD2,synonymous_variant,p.=,ENST00000334793,NM_004474.3;FOXD2-AS1,upstream_gene_variant,,ENST00000445551,;	T	ENST00000334793	Transcript	synonymous_variant	2470/4675	351/1488	117/495	G	ggG/ggT		1		1	FOXD2	HGNC	HGNC:3803	protein_coding	YES	CCDS30708.1	ENSP00000335493	O60548		UPI000014153E	NM_004474.3			1/1		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF168,Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		.	.												T	2	4	39	47438486	47438486	G	T	1	0	0	0	0	0	0	0	1	5857	1219	43	2		2	FOXD2	1	47438486	Silent	SNP	G	C3N-00175_TP	3307768	47438486	201517936	34	10184											
NDC1	0	.	GRCh38	chr1	53835602	53835602	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccaaacaatacttgcaaCtatcctccagcccaaaacct	15	8	3	15	0	0	1	0	1	0	0	2	1	2	1	5	0	6	1	5	0	7	3	rs199526095		C3N-00175_TP	C3N-00175_NB	C	C																c.76G>T	p.Val26Phe	p.V26F	ENST00000371429	2/18	90	70	20	124	124	0	strelka-varscan-mutect	NDC1,missense_variant,p.Val26Phe,ENST00000371429,NM_001168551.1,NM_018087.4;NDC1,intron_variant,,ENST00000480952,;	A	ENST00000371429	Transcript	missense_variant	675/5134	76/2025	26/674	V/F	Gtt/Ttt	rs199526095	1		-1	NDC1	HGNC	HGNC:25525	protein_coding	YES	CCDS583.1	ENSP00000360483	Q9BTX1		UPI000006D8F7	NM_001168551.1,NM_018087.4	tolerated(0.09)		2/18		Transmembrane_helices:TMhelix,hmmpanther:PTHR13269:SF6,hmmpanther:PTHR13269,Pfam_domain:PF09531																	MODERATE	1	SNV	1			1										PASS		rs199526095	.												A	3	1	39	53835602	53835602	C	A	1	0	0	0	0	1	0	0	0	10262	565	20	2		2	NDC1	1	53835602	Missense_Mutation	SNP	C	C3N-00175_TP	6397116	53835602	195120820	35	10185											
C1orf87	0	.	GRCh38	chr1	59997639	59997639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcacacaggtagagggCattttccagcttcctgaacc	11	9	9	12	0	1	3	1	1	0	2	3	3	3	3	3	2	2	3	3	2	2	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1450G>T	p.Ala484Ser	p.A484S	ENST00000371201	11/12	185	124	61	256	255	1	strelka-varscan-mutect	C1orf87,missense_variant,p.Ala484Ser,ENST00000371201,NM_152377.2;C1orf87,missense_variant,p.Ala255Ser,ENST00000450089,;C1orf87,non_coding_transcript_exon_variant,,ENST00000486478,;C1orf87,non_coding_transcript_exon_variant,,ENST00000488027,;C1orf87,non_coding_transcript_exon_variant,,ENST00000491817,;	A	ENST00000371201	Transcript	missense_variant	1558/2028	1450/1641	484/546	A/S	Gcc/Tcc		1		-1	C1orf87	HGNC	HGNC:28547	protein_coding	YES	CCDS614.1	ENSP00000360244	Q8N0U7		UPI000006E066	NM_152377.2	deleterious(0.02)		11/12		Gene3D:1.10.238.10,hmmpanther:PTHR34830,hmmpanther:PTHR34830:SF1																	MODERATE	1	SNV	1			1										PASS		rs1269299867	.												A	3	1	39	59997639	59997639	C	A	1	0	0	0	0	1	0	0	0	1999	710	25	2		2	C1orf87	1	59997639	Missense_Mutation	SNP	C	C3N-00175_TP	6162037	59997639	188958783	36	10186											
PATJ	0	.	GRCh38	chr1	61927831	61927831	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgcctttaccgaccgTgagtgccttttcactattta	9	14	8	10	2	1	2	1	1	0	1	1	4	1	2	4	0	3	0	4	0	4	7	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.3670+2T>G		p.X1224_splice	ENST00000371158		101	71	30	118	118	0	strelka-varscan-mutect	PATJ,splice_donor_variant,,ENST00000371158,NM_176877.2;PATJ,splice_donor_variant,,ENST00000494842,;PATJ,splice_donor_variant,,ENST00000490547,;PATJ,intron_variant,,ENST00000613764,;PATJ,splice_donor_variant,,ENST00000484562,;PATJ,splice_donor_variant,,ENST00000459752,;PATJ,splice_donor_variant,,ENST00000635023,;PATJ,splice_donor_variant,,ENST00000484937,;PATJ,splice_donor_variant,,ENST00000635214,;	G	ENST00000371158	Transcript	splice_donor_variant	-/8505	3670/5406	1224/1801				1		1	PATJ	HGNC	HGNC:28881	protein_coding	YES	CCDS617.2	ENSP00000360200	Q8NI35		UPI0000204487	NM_176877.2				27/42																		HIGH	1	SNV	5			1										PASS		.	.												G	5	3	39	61927831	61927831	T	G	1	0	0	0	0	0	0	1	0	11558	1710	59	5		5	PATJ	1	61927831	Splice_Site	SNP	T	C3N-00175_TP	1930192	61927831	187028591	37	10187											
CACHD1	0	.	GRCh38	chr1	64629481	64629481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctacgaacaccgcagtaGgtatgttgacttgcatgcta	11	10	10	10	2	0	1	0	1	0	0	0	2	0	1	1	1	5	7	1	1	5	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.491G>T	p.Arg164Ile	p.R164I	ENST00000290039	5/27	83	57	26	109	109	0	strelka-varscan-mutect	CACHD1,missense_variant,p.Arg164Ile,ENST00000290039,NM_020925.2,NM_001293274.1;CACHD1,splice_region_variant,,ENST00000495994,;CACHD1,splice_region_variant,,ENST00000470527,;	T	ENST00000290039	Transcript	missense_variant,splice_region_variant	597/5275	491/3672	164/1223	R/I	aGa/aTa		1		1	CACHD1	HGNC	HGNC:29314	protein_coding	YES	CCDS628.2	ENSP00000290039		A0A0A0MQY7	UPI0000458A70	NM_020925.2,NM_001293274.1	deleterious(0)		5/27		Gene3D:3.30.450.20,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF40																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	64629481	64629481	G	T	1	0	0	0	0	1	0	0	0	2225	1014	35	2		2	CACHD1	1	64629481	Missense_Mutation	SNP	G	C3N-00175_TP	2701650	64629481	184326941	38	10188											
GBP7	0	.	GRCh38	chr1	89150536	89150536	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaaatgcctgatccacTccctgggcttgttagaattt	11	12	9	9	0	0	3	0	1	0	2	2	4	2	3	3	1	1	2	3	1	4	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.665A>T	p.Glu222Val	p.E222V	ENST00000294671	6/11	138	90	48	198	198	0	strelka-varscan-mutect	GBP7,missense_variant,p.Glu222Val,ENST00000294671,NM_207398.2;GBP2,upstream_gene_variant,,ENST00000464839,;	A	ENST00000294671	Transcript	missense_variant	804/2454	665/1917	222/638	E/V	gAg/gTg		1		-1	GBP7	HGNC	HGNC:29606	protein_coding	YES	CCDS720.1	ENSP00000294671	Q8N8V2		UPI000013E1A3	NM_207398.2	tolerated(0.12)		6/11		PROSITE_profiles:PS51715,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF17,Gene3D:3.40.50.300,Pfam_domain:PF02263,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	89150536	89150536	T	A	1	0	0	0	0	1	0	0	0	6149	1551	54	4		4	GBP7	1	89150536	Missense_Mutation	SNP	T	C3N-00175_TP	24521055	89150536	159805886	39	10189											
PLPPR4	0	.	GRCh38	chr1	99306234	99306234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcagtacctcaaaatccagCctggcgctgtccccggatgt	9	9	9	14	2	2	0	2	0	0	0	4	1	4	1	5	2	2	2	5	2	3	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1516C>T	p.Pro506Ser	p.P506S	ENST00000370185	7/7	214	196	18	243	243	0	strelka-varscan-mutect	PLPPR4,missense_variant,p.Pro506Ser,ENST00000370185,NM_014839.4;PLPPR4,missense_variant,p.Pro448Ser,ENST00000457765,NM_001166252.1;PLPPR4,missense_variant,p.Pro348Ser,ENST00000370184,;	T	ENST00000370185	Transcript	missense_variant	2013/5369	1516/2292	506/763	P/S	Cct/Tct		1		1	PLPPR4	HGNC	HGNC:23496	protein_coding	YES	CCDS757.1	ENSP00000359204	Q7Z2D5		UPI0000161229	NM_014839.4	tolerated(0.35)		7/7																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	99306234	99306234	C	T	1	0	0	0	0	1	0	0	0	12212	739	26	3		3	PLPPR4	1	99306234	Missense_Mutation	SNP	C	C3N-00175_TP	10155698	99306234	149650188	40	10190											
COL11A1	0	.	GRCh38	chr1	102965518	102965518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactccccctggcccaggaGggccggtcttgccttgaaat	6	8	11	16	1	1	1	0	1	1	0	2	2	2	2	6	4	1	0	6	4	1	2			C3N-00175_TP	C3N-00175_NB	G	G																c.2885C>T	p.Pro962Leu	p.P962L	ENST00000370096	38/67	295	230	65	275	273	2	strelka-varscan-mutect	COL11A1,missense_variant,p.Pro974Leu,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Pro962Leu,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Pro923Leu,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Pro846Leu,ENST00000512756,NM_080630.3;COL11A1,3_prime_UTR_variant,,ENST00000635193,;COL11A1,upstream_gene_variant,,ENST00000465209,;	A	ENST00000370096	Transcript	missense_variant	3198/7286	2885/5421	962/1806	P/L	cCt/cTt	COSM400821,COSM400822	1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	tolerated(0.05)		38/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1192133331	.												A	3	1	39	102965518	102965518	G	A	1	0	0	0	0	1	0	0	0	3455	1000	35	3		3	COL11A1	1	102965518	Missense_Mutation	SNP	G	C3N-00175_TP	3659284	102965518	145990904	41	10191											
NTNG1	0	.	GRCh38	chr1	107324738	107324738	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttcgcgttttttgctggaCctcgcctacgcaatatggct	5	14	11	11	4	0	0	0	0	0	0	2	1	0	1	2	3	2	5	2	3	3	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.703C>A	p.Pro235Thr	p.P235T	ENST00000370068	3/8	155	122	33	158	158	0	strelka-varscan-mutect	NTNG1,missense_variant,p.Pro235Thr,ENST00000370067,;NTNG1,missense_variant,p.Pro235Thr,ENST00000370068,;NTNG1,missense_variant,p.Pro235Thr,ENST00000370073,NM_001113226.1;NTNG1,missense_variant,p.Pro235Thr,ENST00000370071,NM_001113228.1;NTNG1,missense_variant,p.Pro235Thr,ENST00000370074,NM_014917.2;NTNG1,missense_variant,p.Pro235Thr,ENST00000370065,;NTNG1,missense_variant,p.Pro235Thr,ENST00000370066,;NTNG1,non_coding_transcript_exon_variant,,ENST00000477948,;NTNG1,non_coding_transcript_exon_variant,,ENST00000294649,;	A	ENST00000370068	Transcript	missense_variant	1549/4034	703/1620	235/539	P/T	Cct/Act		1		1	NTNG1	HGNC	HGNC:23319	protein_coding	YES	CCDS44180.1	ENSP00000359085	Q9Y2I2		UPI0000458A3E		deleterious(0.03)		3/8		PROSITE_profiles:PS51117,hmmpanther:PTHR10574:SF28,hmmpanther:PTHR10574,Pfam_domain:PF00055,SMART_domains:SM00136																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	107324738	107324738	C	A	1	0	0	0	0	1	0	0	0	10769	507	18	2		2	NTNG1	1	107324738	Missense_Mutation	SNP	C	C3N-00175_TP	4359220	107324738	141631684	42	10192											
WDR47	0	.	GRCh38	chr1	108983343	108983343	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtatttgtcatttgatccTgttgctaataactgcccaca	10	15	6	10	1	1	1	1	1	0	0	2	1	2	1	2	0	3	3	2	0	3	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.2058A>T	p.=	p.T686T	ENST00000400794	11/15	133	104	29	140	140	0	strelka-varscan-mutect	WDR47,synonymous_variant,p.=,ENST00000369965,NM_014969.5;WDR47,synonymous_variant,p.=,ENST00000369962,NM_001142551.1;WDR47,synonymous_variant,p.=,ENST00000357672,;WDR47,synonymous_variant,p.=,ENST00000400794,NM_001142550.1;WDR47,synonymous_variant,p.=,ENST00000361054,;RP5-1065J22.2,downstream_gene_variant,,ENST00000439282,;	A	ENST00000400794	Transcript	synonymous_variant	2192/4134	2058/2784	686/927	T	acA/acT		1		-1	WDR47	HGNC	HGNC:29141	protein_coding	YES	CCDS44186.1	ENSP00000383599	O94967		UPI0001639B05	NM_001142550.1			11/15		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19863,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	108983343	108983343	T	A	1	0	0	0	0	0	0	0	1	17860	1567	55	4		4	WDR47	1	108983343	Silent	SNP	T	C3N-00175_TP	1658605	108983343	139973079	43	10193											
EPS8L3	0	.	GRCh38	chr1	109753127	109753127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccccttacttggctggagGgctctggaagttgccagtca	6	11	12	12	0	2	0	1	0	1	0	3	2	3	2	3	4	2	3	3	4	2	3	rs775122926		C3N-00175_TP	C3N-00175_NB	G	G																c.1193C>A	p.Pro398His	p.P398H	ENST00000369805	13/19	93	68	25	104	104	0	strelka-varscan-mutect	EPS8L3,missense_variant,p.Pro398His,ENST00000369805,NM_139053.2;EPS8L3,missense_variant,p.Pro397His,ENST00000361852,NM_001319952.1,NM_024526.3;EPS8L3,missense_variant,p.Pro397His,ENST00000361965,NM_133181.3;RP4-735C1.4,intron_variant,,ENST00000431955,;GSTM5,intron_variant,,ENST00000429410,;EPS8L3,upstream_gene_variant,,ENST00000475725,;EPS8L3,upstream_gene_variant,,ENST00000498743,;EPS8L3,upstream_gene_variant,,ENST00000482453,;EPS8L3,upstream_gene_variant,,ENST00000489465,;EPS8L3,3_prime_UTR_variant,,ENST00000472325,;	T	ENST00000369805	Transcript	missense_variant	1423/2325	1193/1785	398/594	P/H	cCc/cAc	rs775122926	1		-1	EPS8L3	HGNC	HGNC:21297	protein_coding	YES	CCDS815.1	ENSP00000358820	Q8TE67		UPI00001613C9	NM_139053.2	tolerated(0.07)		13/19		hmmpanther:PTHR12287:SF22,hmmpanther:PTHR12287																	MODERATE	1	SNV	1			1										PASS		rs775122926	.												T	3	4	39	109753127	109753127	G	T	1	0	0	0	0	1	0	0	0	5045	1232	43	2		2	EPS8L3	1	109753127	Missense_Mutation	SNP	G	C3N-00175_TP	769784	109753127	139203295	44	10194											
EPS8L3	0	.	GRCh38	chr1	109757544	109757544	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtctccttcagccaggtGgccagccttccctggggaca	5	10	11	15	0	2	0	1	0	1	0	4	1	3	1	5	4	2	0	5	4	0	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.909C>A	p.=	p.A303A	ENST00000369805	11/19	149	105	44	161	161	0	strelka-varscan-mutect	EPS8L3,synonymous_variant,p.=,ENST00000369805,NM_139053.2;EPS8L3,synonymous_variant,p.=,ENST00000361852,NM_001319952.1,NM_024526.3;EPS8L3,synonymous_variant,p.=,ENST00000361965,NM_133181.3;RP4-735C1.4,intron_variant,,ENST00000431955,;GSTM5,intron_variant,,ENST00000429410,;EPS8L3,downstream_gene_variant,,ENST00000494151,;EPS8L3,downstream_gene_variant,,ENST00000477568,;EPS8L3,3_prime_UTR_variant,,ENST00000472325,;	T	ENST00000369805	Transcript	synonymous_variant	1139/2325	909/1785	303/594	A	gcC/gcA		1		-1	EPS8L3	HGNC	HGNC:21297	protein_coding	YES	CCDS815.1	ENSP00000358820	Q8TE67		UPI00001613C9	NM_139053.2			11/19		hmmpanther:PTHR12287:SF22,hmmpanther:PTHR12287																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	109757544	109757544	G	T	1	0	0	0	0	0	0	0	1	5045	1335	47	2		2	EPS8L3	1	109757544	Silent	SNP	G	C3N-00175_TP	4417	109757544	139198878	45	10195											
STRIP1	0	.	GRCh38	chr1	110051725	110051725	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccatcttgaagcgggccCtaaaggtgaaacaagccatg	12	6	10	13	1	1	2	0	2	1	0	1	2	1	2	4	2	3	0	4	2	5	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2104C>T	p.=	p.L702L	ENST00000369795	20/21	256	200	56	310	310	0	strelka-varscan-mutect	STRIP1,synonymous_variant,p.=,ENST00000369795,NM_033088.3;STRIP1,synonymous_variant,p.=,ENST00000369796,NM_001270768.1;STRIP1,3_prime_UTR_variant,,ENST00000485775,;STRIP1,non_coding_transcript_exon_variant,,ENST00000473429,;STRIP1,downstream_gene_variant,,ENST00000535003,;STRIP1,downstream_gene_variant,,ENST00000461054,;	T	ENST00000369795	Transcript	synonymous_variant	2126/3265	2104/2514	702/837	L	Cta/Tta		1		1	STRIP1	HGNC	HGNC:25916	protein_coding	YES	CCDS30798.1	ENSP00000358810	Q5VSL9		UPI0000160E65	NM_033088.3			20/21		Pfam_domain:PF11882,hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF5,SMART_domains:SM01293																	LOW	1	SNV	1			1										PASS		rs1020771142	.												T	2	4	39	110051725	110051725	C	T	1	0	0	0	0	0	0	0	1	15710	680	24	3		3	STRIP1	1	110051725	Silent	SNP	C	C3N-00175_TP	294181	110051725	138904697	46	10196											
OVGP1	0	.	GRCh38	chr1	111426502	111426502	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagatccttagcaacaatCtgattgttgttcattgaggc	10	14	10	7	0	2	3	1	2	1	1	3	4	3	3	1	2	2	3	1	2	3	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.195G>A	p.=	p.Q65Q	ENST00000369732	3/11	450	359	91	398	398	0	strelka-varscan-mutect	OVGP1,synonymous_variant,p.=,ENST00000369732,NM_002557.3;RP11-552M11.8,downstream_gene_variant,,ENST00000564771,;OVGP1,upstream_gene_variant,,ENST00000481495,;	T	ENST00000369732	Transcript	synonymous_variant	251/2243	195/2037	65/678	Q	caG/caA		1		-1	OVGP1	HGNC	HGNC:8524	protein_coding	YES	CCDS834.1	ENSP00000358747	Q12889		UPI0000130C53	NM_002557.3			3/11		hmmpanther:PTHR11177:SF217,hmmpanther:PTHR11177,Gene3D:3.20.20.80,Pfam_domain:PF00704,SMART_domains:SM00636,Superfamily_domains:SSF51445																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	111426502	111426502	C	T	1	0	0	0	0	0	0	0	1	11395	912	32	3		3	OVGP1	1	111426502	Silent	SNP	C	C3N-00175_TP	1374777	111426502	137529920	47	10197											
SLC16A1	0	.	GRCh38	chr1	112913950	112913950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctttctggtccggagattCtgctgctttggtaacttcat	5	17	10	9	1	4	1	1	0	3	1	5	2	5	1	1	3	3	3	1	3	1	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1444G>A	p.Glu482Lys	p.E482K	ENST00000538576	5/5	368	317	51	330	330	0	strelka-varscan-mutect	SLC16A1,missense_variant,p.Glu482Lys,ENST00000538576,NM_001166496.1;SLC16A1,missense_variant,p.Glu482Lys,ENST00000369626,NM_003051.3;SLC16A1,downstream_gene_variant,,ENST00000458229,;SLC16A1,downstream_gene_variant,,ENST00000443580,;SLC16A1,downstream_gene_variant,,ENST00000429288,;SLC16A1,downstream_gene_variant,,ENST00000481750,;	T	ENST00000538576	Transcript	missense_variant	2276/4374	1444/1503	482/500	E/K	Gaa/Aaa		1		-1	SLC16A1	HGNC	HGNC:10922	protein_coding	YES	CCDS858.1	ENSP00000441065	P53985	A0A024R0H1	UPI00000012F5	NM_001166496.1	tolerated(0.36)		5/5		hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF24																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	112913950	112913950	C	T	1	0	0	0	0	1	0	0	0	14668	922	32	3		3	SLC16A1	1	112913950	Missense_Mutation	SNP	C	C3N-00175_TP	1487448	112913950	136042472	48	10198											
SYCP1	0	.	GRCh38	chr1	114913074	114913074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacactgcaacaagctttCactagaaaacaaagagctca	17	8	5	11	0	3	2	3	0	0	2	3	2	3	2	0	0	5	3	0	0	6	3			C3N-00175_TP	C3N-00175_NB	C	C																c.1571C>T	p.Ser524Leu	p.S524L	ENST00000369522	19/32	133	98	35	184	184	0	strelka-varscan-mutect	SYCP1,missense_variant,p.Ser524Leu,ENST00000369522,NM_003176.3,NM_001282541.1;SYCP1,missense_variant,p.Ser524Leu,ENST00000369518,;SYCP1,missense_variant,p.Ser524Leu,ENST00000618516,;SYCP1,missense_variant,p.Ser524Leu,ENST00000613524,NM_001282542.1;SYCP1,missense_variant,p.Ser524Leu,ENST00000455987,;SYCP1,non_coding_transcript_exon_variant,,ENST00000493377,;SYCP1,non_coding_transcript_exon_variant,,ENST00000482717,;	T	ENST00000369522	Transcript	missense_variant	1811/3522	1571/2931	524/976	S/L	tCa/tTa	COSM3471707	1		1	SYCP1	HGNC	HGNC:11487	protein_coding	YES	CCDS879.1	ENSP00000358535	Q15431	A0A024R0I2	UPI00001CE3B9	NM_003176.3,NM_001282541.1	tolerated(1)		19/32		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05483,hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF15											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	39	114913074	114913074	C	T	1	0	0	0	0	1	0	0	0	15821	838	29	3		3	SYCP1	1	114913074	Missense_Mutation	SNP	C	C3N-00175_TP	1999124	114913074	134043348	49	10199											
SRGAP2B	0	.	GRCh38	chr1	144995126	144995126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggaagaagtcctggaggtCctgcaacagttgcacccgaa	11	7	12	11	2	0	1	0	0	0	1	3	4	2	3	3	3	3	3	3	3	4	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.142G>T	p.Asp48Tyr	p.D48Y	ENST00000612199	3/10	52	42	10	28	28	0	strelka-varscan-mutect	SRGAP2B,missense_variant,p.Asp48Tyr,ENST00000612199,NM_001271870.1;SRGAP2B,intron_variant,,ENST00000619678,;	A	ENST00000612199	Transcript	missense_variant	990/7120	142/1377	48/458	D/Y	Gac/Tac		1		-1	SRGAP2B	HGNC	HGNC:35237	protein_coding	YES	CCDS72854.1	ENSP00000477776	P0DMP2		UPI0002A03F43	NM_001271870.1	deleterious(0)		3/10		PROSITE_profiles:PS51741,hmmpanther:PTHR14166:SF6,hmmpanther:PTHR14166,Pfam_domain:PF00611,SMART_domains:SM00055,Superfamily_domains:SSF103657																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	144995126	144995126	C	A	1	0	0	0	0	1	0	0	0	15506	855	30	2		2	SRGAP2B	1	144995126	Missense_Mutation	SNP	C	C3N-00175_TP	30082052	144995126	103961296	50	10200											
GJA5	0	.	GRCh38	chr1	147758560	147758560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcttccagcccaggtggtAgagttcagccaggctaagga	9	9	12	11	0	2	1	1	0	1	1	3	2	3	2	3	4	2	3	3	4	2	5	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.679T>C	p.Tyr227His	p.Y227H	ENST00000621517	2/2	229	171	58	125	125	0	strelka-varscan-mutect	GJA5,missense_variant,p.Tyr227His,ENST00000621517,NM_005266.6;GJA5,missense_variant,p.Tyr227His,ENST00000579774,NM_181703.3;GJA5,missense_variant,p.Tyr227His,ENST00000430508,;RP11-433J22.2,downstream_gene_variant,,ENST00000622634,;RP11-433J22.2,downstream_gene_variant,,ENST00000612401,;	G	ENST00000621517	Transcript	missense_variant	823/3183	679/1077	227/358	Y/H	Tac/Cac		1		-1	GJA5	HGNC	HGNC:4279	protein_coding	YES	CCDS929.1	ENSP00000484552	P36382	X5D2H9	UPI000013D8D2	NM_005266.6	tolerated(0.06)		2/2		Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF13,SMART_domains:SM01089,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	39	147758560	147758560	A	G	1	0	0	0	0	1	0	0	0	6283	420	15	5		5	GJA5	1	147758560	Missense_Mutation	SNP	A	C3N-00175_TP	2763434	147758560	101197862	51	10201											
SV2A	0	.	GRCh38	chr1	149905951	149905951	+	Frame_Shift_Del	DEL	A	A	-																															gatgcaatgctgaccccgccAaaaaggcagagcagagcgat																								novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1974delT	p.Phe658LeufsTer15	p.F658Lfs*15	ENST00000369146	12/13	375	293	82	288	288	0	sindel-varindel-pindel	SV2A,frameshift_variant,p.Phe658LeufsTer15,ENST00000369146,NM_014849.4;SV2A,frameshift_variant,p.Phe658LeufsTer15,ENST00000369145,;	-	ENST00000369146	Transcript	frameshift_variant	2465/4416	1974/2229	658/742	F/X	ttT/tt		1		-1	SV2A	HGNC	HGNC:20566	protein_coding	YES	CCDS940.1	ENSP00000358142	Q7L0J3		UPI000000DAD2	NM_014849.4			12/13		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR23511,hmmpanther:PTHR23511:SF11,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR01299,Transmembrane_helices:TMhelix																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	39	149905951	149905951	A	-	1	0	1	0	1	0	0	0	0	15801	127	5	0		0	SV2A	1	149905951	Frame_Shift_Del	DEL	A	C3N-00175_TP	2147391	149905951	99050471	52	10202											
SV2A	0	.	GRCh38	chr1	149913352	149913352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacagtgtccactggaaGcggccgtggccacactcccg	10	6	11	14	3	0	0	0	0	0	0	2	1	2	1	4	3	2	0	4	3	3	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.489C>T	p.=	p.R163R	ENST00000369146	2/13	444	312	132	290	290	0	strelka-varscan-mutect	SV2A,synonymous_variant,p.=,ENST00000369146,NM_014849.4;SV2A,synonymous_variant,p.=,ENST00000369145,;	A	ENST00000369146	Transcript	synonymous_variant	980/4416	489/2229	163/742	R	cgC/cgT		1		-1	SV2A	HGNC	HGNC:20566	protein_coding	YES	CCDS940.1	ENSP00000358142	Q7L0J3		UPI000000DAD2	NM_014849.4			2/13		hmmpanther:PTHR23511,hmmpanther:PTHR23511:SF11,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR01299																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	149913352	149913352	G	A	1	0	0	0	0	0	0	0	1	15801	958	34	3		3	SV2A	1	149913352	Silent	SNP	G	C3N-00175_TP	7401	149913352	99043070	53	10203											
PLEKHO1	0	.	GRCh38	chr1	150158907	150158907	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccaacctcttgtgctgAgagctttcgggttgacctgg	7	11	13	10	1	1	2	0	2	1	1	2	4	1	3	3	3	4	3	3	3	2	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.614A>G	p.Glu205Gly	p.E205G	ENST00000369124	6/6	254	185	69	188	188	0	strelka-varscan-mutect	PLEKHO1,missense_variant,p.Glu205Gly,ENST00000369124,NM_016274.5;PLEKHO1,missense_variant,p.Glu22Gly,ENST00000369126,NM_001304724.1;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000479194,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000441340,;PLEKHO1,upstream_gene_variant,,ENST00000502767,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000607609,;PLEKHO1,non_coding_transcript_exon_variant,,ENST00000485470,;PLEKHO1,downstream_gene_variant,,ENST00000477309,;	G	ENST00000369124	Transcript	missense_variant	892/2050	614/1230	205/409	E/G	gAg/gGg		1		1	PLEKHO1	HGNC	HGNC:24310	protein_coding	YES	CCDS945.1	ENSP00000358120	Q53GL0		UPI000006DFAC	NM_016274.5	tolerated(0.07)		6/6		hmmpanther:PTHR15871,hmmpanther:PTHR15871:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	150158907	150158907	A	G	1	0	0	0	0	1	0	0	0	12177	304	11	5		5	PLEKHO1	1	150158907	Missense_Mutation	SNP	A	C3N-00175_TP	245555	150158907	98797515	54	10204											
ANP32E	0	.	GRCh38	chr1	150230605	150230605	+	Frame_Shift_Del	DEL	T	T	-																															tactgagatcttttattttgTttccactcagattgaggtag																								novel		C3N-00175_TP	C3N-00175_NB	T	T																c.293delA	p.Asn98ThrfsTer3	p.N98Tfs*3	ENST00000583931	3/7	169	123	46	160	160	0	sindel-varindel-pindel	ANP32E,frameshift_variant,p.Asn98ThrfsTer3,ENST00000583931,NM_001280559.1,NM_030920.4;ANP32E,frameshift_variant,p.Asn50ThrfsTer3,ENST00000616917,NM_001136479.2;ANP32E,frameshift_variant,p.Asn98ThrfsTer3,ENST00000369114,;ANP32E,frameshift_variant,p.Asn98ThrfsTer3,ENST00000533654,NM_001280560.1;ANP32E,frameshift_variant,p.Asn48ThrfsTer3,ENST00000532744,;ANP32E,intron_variant,,ENST00000629042,;ANP32E,intron_variant,,ENST00000436748,NM_001136478.3;ANP32E,intron_variant,,ENST00000369115,;ANP32E,intron_variant,,ENST00000534220,;ANP32E,upstream_gene_variant,,ENST00000534437,;	-	ENST00000583931	Transcript	frameshift_variant	663/3451	293/807	98/268	N/X	aAc/ac		1		-1	ANP32E	HGNC	HGNC:16673	protein_coding	YES	CCDS946.1	ENSP00000463154	Q9BTT0		UPI0000071679	NM_001280559.1,NM_030920.4			3/7		PROSITE_profiles:PS51450,hmmpanther:PTHR11375:SF5,hmmpanther:PTHR11375,Gene3D:3.80.10.10,Pfam_domain:PF14580,Superfamily_domains:SSF52058																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	39	150230605	150230605	T	-	1	0	1	0	1	0	0	0	0	816	1725	60	0		0	ANP32E	1	150230605	Frame_Shift_Del	DEL	T	C3N-00175_TP	71698	150230605	98725817	55	10205											
RPRD2	0	.	GRCh38	chr1	150472486	150472486	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttcaggagagtgtcggcAgctttcgttccaacagtttc	9	13	10	9	2	1	1	1	0	0	1	5	2	2	1	1	2	2	4	1	2	2	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.3538A>T	p.Ser1180Cys	p.S1180C	ENST00000369068	11/11	274	214	60	175	175	0	strelka-varscan-mutect	RPRD2,missense_variant,p.Ser1154Cys,ENST00000401000,NM_001297674.1,NM_001297673.1;RPRD2,missense_variant,p.Ser1180Cys,ENST00000369068,NM_015203.4;RPRD2,non_coding_transcript_exon_variant,,ENST00000492220,;	T	ENST00000369068	Transcript	missense_variant	3542/4612	3538/4386	1180/1461	S/C	Agc/Tgc		1		1	RPRD2	HGNC	HGNC:29039	protein_coding	YES	CCDS44216.1	ENSP00000358064	Q5VT52		UPI00001D7CA8	NM_015203.4	deleterious_low_confidence(0)		11/11		hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	150472486	150472486	A	T	1	0	0	0	0	1	0	0	0	13871	188	7	4		4	RPRD2	1	150472486	Missense_Mutation	SNP	A	C3N-00175_TP	241881	150472486	98483936	56	10206											
ADAMTSL4	0	.	GRCh38	chr1	150558554	150558554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgatgaagtgagcgagcagGagtgtgcgtcaggccccccg	8	6	17	10	3	1	3	1	3	0	0	1	5	1	4	3	2	3	1	3	2	1	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2533G>C	p.Glu845Gln	p.E845Q	ENST00000369039	16/20	492	458	34	333	333	0	strelka-varscan-mutect	ADAMTSL4,missense_variant,p.Glu845Gln,ENST00000369039,NM_001288608.1,NM_001288607.1;ADAMTSL4,missense_variant,p.Glu822Gln,ENST00000271643,NM_019032.5;ADAMTSL4,missense_variant,p.Glu822Gln,ENST00000369038,;ADAMTSL4,missense_variant,p.Glu822Gln,ENST00000369041,NM_025008.4;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000617352,;RP11-54A4.2,upstream_gene_variant,,ENST00000442435,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000369035,;ADAMTSL4,non_coding_transcript_exon_variant,,ENST00000489159,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000615012,;	C	ENST00000369039	Transcript	missense_variant	2822/4319	2533/3294	845/1097	E/Q	Gag/Cag		1		1	ADAMTSL4	HGNC	HGNC:19706	protein_coding	YES	CCDS72908.1	ENSP00000358035	Q6UY14		UPI0001AE7902	NM_001288608.1,NM_001288607.1	deleterious(0.01)		16/20		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF144,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	39	150558554	150558554	G	C	1	0	0	0	0	1	0	0	0	321	1175	41	4		4	ADAMTSL4	1	150558554	Missense_Mutation	SNP	G	C3N-00175_TP	86068	150558554	98397868	57	10207											
CELF3	0	.	GRCh38	chr1	151706688	151706688	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtagtgctgcatcccCgcgtaggcctgctgcagggg	4	9	15	13	2	0	0	0	0	0	0	1	0	1	0	4	3	4	6	4	3	2	2	rs564076056		C3N-00175_TP	C3N-00175_NB	C	C																c.969G>T	p.=	p.A323A	ENST00000290583	9/13	299	232	67	189	188	1	strelka-varscan-mutect	CELF3,synonymous_variant,p.=,ENST00000290583,NM_001291106.1,NM_001172648.3,NM_007185.6,NM_001291107.1;CELF3,synonymous_variant,p.=,ENST00000420342,;CELF3,synonymous_variant,p.=,ENST00000290585,NM_001172649.3;RIIAD1,upstream_gene_variant,,ENST00000326413,;RP11-98D18.1,intron_variant,,ENST00000457548,;CELF3,non_coding_transcript_exon_variant,,ENST00000470688,;CELF3,downstream_gene_variant,,ENST00000478829,;CELF3,downstream_gene_variant,,ENST00000479893,;CELF3,downstream_gene_variant,,ENST00000419910,;	A	ENST00000290583	Transcript	synonymous_variant	1763/3246	969/1398	323/465	A	gcG/gcT	rs564076056	1		-1	CELF3	HGNC	HGNC:11967	protein_coding	YES	CCDS1002.1	ENSP00000290583	Q5SZQ8		UPI000013F059	NM_001291106.1,NM_001172648.3,NM_007185.6,NM_001291107.1			9/13		hmmpanther:PTHR24012:SF427,hmmpanther:PTHR24012																	LOW	1	SNV	1			1										PASS		rs564076056	.												A	2	1	39	151706688	151706688	C	A	1	0	0	0	0	0	0	0	1	2924	639	23	1		1	CELF3	1	151706688	Silent	SNP	C	C3N-00175_TP	1148134	151706688	97249734	58	10208											
RIIAD1	0	.	GRCh38	chr1	151728790	151728790	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcacggatccaagacttcCcaacaagattcacatgcagc	13	8	6	14	1	2	2	2	0	0	2	4	3	4	3	2	1	3	1	2	1	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.233C>G	p.Pro78Arg	p.P78R	ENST00000479191	4/5	316	278	38	208	208	0	strelka-varscan-mutect	RIIAD1,missense_variant,p.Pro88Arg,ENST00000326413,;RIIAD1,missense_variant,p.Pro78Arg,ENST00000479191,NM_001144956.1;RIIAD1,non_coding_transcript_exon_variant,,ENST00000426175,;RIIAD1,non_coding_transcript_exon_variant,,ENST00000451484,;RIIAD1,non_coding_transcript_exon_variant,,ENST00000427205,;RIIAD1,non_coding_transcript_exon_variant,,ENST00000451222,;	G	ENST00000479191	Transcript	missense_variant	233/449	233/279	78/92	P/R	cCc/cGc		1		1	RIIAD1	HGNC	HGNC:26686	protein_coding	YES	CCDS53368.1	ENSP00000419249	A6NNX1		UPI00001D7CA9	NM_001144956.1	tolerated(0.09)		4/5																			MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	39	151728790	151728790	C	G	1	0	0	0	0	1	0	0	0	13534	623	22	4		4	RIIAD1	1	151728790	Missense_Mutation	SNP	C	C3N-00175_TP	22102	151728790	97227632	59	10209											
FLG	0	.	GRCh38	chr1	152303433	152303433	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagccgtctcctgacTgttcctcattacgtgtttct	4	15	9	13	2	3	1	1	1	2	0	5	2	4	2	4	1	2	2	4	1	1	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.11453A>T	p.Gln3818Leu	p.Q3818L	ENST00000368799	3/3	919	714	205	577	577	0	strelka-varscan-mutect	FLG,missense_variant,p.Gln3818Leu,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	A	ENST00000368799	Transcript	missense_variant	11489/12747	11453/12186	3818/4061	Q/L	cAg/cTg		1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	deleterious(0.01)		3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571,Pfam_domain:PF03516																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	152303433	152303433	T	A	1	0	0	0	0	1	0	0	0	5784	1580	55	4		4	FLG	1	152303433	Missense_Mutation	SNP	T	C3N-00175_TP	574643	152303433	96652989	60	10210											
FLG	0	.	GRCh38	chr1	152304140	152304140	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgaccggctctgtcttcGtgatgggacgtggggtgtct	3	12	16	10	4	3	2	0	2	3	0	4	3	3	3	2	4	0	1	2	4	0	1	rs75279506		C3N-00175_TP	C3N-00175_NB	G	G																c.10746C>T	p.=	p.H3582H	ENST00000368799	3/3	401	362	39	303	301	2	varscan-mutect	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	A	ENST00000368799	Transcript	synonymous_variant	10782/12747	10746/12186	3582/4061	H	caC/caT	rs75279506	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1			3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571																	LOW	1	SNV	1			1										PASS		rs75279506	.												A	2	1	39	152304140	152304140	G	A	1	0	0	0	0	0	0	0	1	5784	1136	40	1		1	FLG	1	152304140	Silent	SNP	G	C3N-00175_TP	707	152304140	96652282	61	10211											
FLG	0	.	GRCh38	chr1	152308028	152308028	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaccggctctgtcttcGtgatgggacctggggtgtct	4	12	14	11	2	3	2	0	2	3	0	4	3	3	3	3	4	0	1	3	4	0	1	rs141571186		C3N-00175_TP	C3N-00175_NB	G	G																c.6858C>T	p.=	p.H2286H	ENST00000368799	3/3	1146	1014	132	604	604	0	varscan-mutect	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	A	ENST00000368799	Transcript	synonymous_variant	6894/12747	6858/12186	2286/4061	H	caC/caT	rs141571186,COSM4022429	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1			3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571											0,1						LOW	1	SNV	1		0,1	1										PASS		rs141571186	.												A	2	1	39	152308028	152308028	G	A	1	0	0	0	0	0	0	0	1	5784	1136	40	1		1	FLG	1	152308028	Silent	SNP	G	C3N-00175_TP	3888	152308028	96648394	62	10212											
FLG	0	.	GRCh38	chr1	152312315	152312315	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctatctaccgattgctcGtggtgggacccctgccttcc	5	11	10	15	2	1	0	0	0	1	0	3	3	2	1	6	2	3	1	6	2	2	4	rs375680393		C3N-00175_TP	C3N-00175_NB	G	G																c.2571C>T	p.=	p.H857H	ENST00000368799	3/3	938	786	152	491	491	0	strelka-varscan	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	A	ENST00000368799	Transcript	synonymous_variant	2607/12747	2571/12186	857/4061	H	caC/caT	rs375680393	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1			3/3																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	152312315	152312315	G	A	1	0	0	0	0	0	0	0	1	5784	1136	40	1		1	FLG	1	152312315	Silent	SNP	G	C3N-00175_TP	4287	152312315	96644107	63	10213											
FLG	0	.	GRCh38	chr1	152313872	152313872	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggctctgtcttcatcatgGgacctggggtgtctggagcc	4	12	14	11	0	5	0	2	0	3	0	5	2	5	2	2	5	1	1	2	5	0	1	rs578012327		C3N-00175_TP	C3N-00175_NB	G	G																c.1014C>A	p.=	p.S338S	ENST00000368799	3/3	774	565	209	503	503	0	strelka-varscan-mutect	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,non_coding_transcript_exon_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368799	Transcript	synonymous_variant	1050/12747	1014/12186	338/4061	S	tcC/tcA	rs578012327	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1			3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571																	LOW	1	SNV	1			1										PASS		rs578012327	.												T	2	4	39	152313872	152313872	G	T	1	0	0	0	0	0	0	0	1	5784	1219	43	2		2	FLG	1	152313872	Silent	SNP	G	C3N-00175_TP	1557	152313872	96642550	64	10214											
FLG2	0	.	GRCh38	chr1	152356335	152356335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggactgacctgagccaGacccatgttgtccaaagcca	12	6	10	13	0	0	4	0	2	0	2	1	5	1	5	5	1	2	1	5	1	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1451C>A	p.Ser484Tyr	p.S484Y	ENST00000388718	3/3	503	437	66	324	323	1	strelka-varscan-mutect	FLG2,missense_variant,p.Ser484Tyr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,;	T	ENST00000388718	Transcript	missense_variant	1524/9124	1451/7176	484/2391	S/Y	tCt/tAt		1		-1	FLG2	HGNC	HGNC:33276	protein_coding	YES	CCDS30861.1	ENSP00000373370	Q5D862		UPI00004E1DE5	NM_001014342.2	deleterious(0.04)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	39	152356335	152356335	G	T	1	0	0	0	0	1	0	0	0	5785	942	33	2		2	FLG2	1	152356335	Missense_Mutation	SNP	G	C3N-00175_TP	42463	152356335	96600087	65	10215											
FLG2	0	.	GRCh38	chr1	152357106	152357106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccaactgtttgatccaGatccagattcatactcctcc	9	14	4	14	0	1	3	1	1	0	2	6	3	6	3	5	0	2	1	5	0	2	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.680C>A	p.Ser227Tyr	p.S227Y	ENST00000388718	3/3	232	202	30	136	134	2	strelka-varscan	FLG2,missense_variant,p.Ser227Tyr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,;	T	ENST00000388718	Transcript	missense_variant	753/9124	680/7176	227/2391	S/Y	tCt/tAt		1		-1	FLG2	HGNC	HGNC:33276	protein_coding	YES	CCDS30861.1	ENSP00000373370	Q5D862		UPI00004E1DE5	NM_001014342.2	tolerated(0.13)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	39	152357106	152357106	G	T	1	0	0	0	0	1	0	0	0	5785	942	33	2		2	FLG2	1	152357106	Missense_Mutation	SNP	G	C3N-00175_TP	771	152357106	96599316	66	10216											
LCE3D	0	.	GRCh38	chr1	152579792	152579792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcaggaagcagccgccctCggagctagggccacagcccc	8	4	13	16	2	1	0	1	0	0	0	2	2	1	2	5	3	4	3	5	3	2	2	rs201921868		C3N-00175_TP	C3N-00175_NB	C	C																c.145G>A	p.Glu49Lys	p.E49K	ENST00000368787	2/2	612	578	34	455	455	0	varscan-mutect	LCE3D,missense_variant,p.Glu49Lys,ENST00000368787,NM_032563.1;	T	ENST00000368787	Transcript	missense_variant	202/613	145/279	49/92	E/K	Gag/Aag	rs201921868,COSM1256369	1		-1	LCE3D	HGNC	HGNC:16615	protein_coding	YES	CCDS1014.1	ENSP00000357776	Q9BYE3		UPI000006EC48	NM_032563.1	tolerated_low_confidence(0.09)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF27,hmmpanther:PTHR23263,Pfam_domain:PF14672											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201921868	.												T	3	4	39	152579792	152579792	C	T	1	0	0	0	0	1	0	0	0	8577	893	31	1		1	LCE3D	1	152579792	Missense_Mutation	SNP	C	C3N-00175_TP	222686	152579792	96376630	67	10217											
LCE1E	0	.	GRCh38	chr1	152787644	152787644	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcggccagcactctggAggctgctgctgaagtggacc	7	6	16	12	1	1	1	0	1	1	0	1	3	1	3	2	5	4	5	2	5	1	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.345A>T	p.=	p.G115G	ENST00000368770	2/2	95	69	26	68	68	0	strelka-varscan-mutect	LCE1E,synonymous_variant,p.=,ENST00000368770,NM_178353.1;LCE1E,synonymous_variant,p.=,ENST00000368771,;LCE1E,synonymous_variant,p.=,ENST00000619588,;	T	ENST00000368770	Transcript	synonymous_variant	398/1180	345/357	115/118	G	ggA/ggT		1		1	LCE1E	HGNC	HGNC:29466	protein_coding	YES	CCDS1024.1	ENSP00000357759	Q5T753		UPI0000161050	NM_178353.1			2/2		Pfam_domain:PF14672,hmmpanther:PTHR23263,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	152787644	152787644	A	T	1	0	0	0	0	0	0	0	1	8568	291	11	4		4	LCE1E	1	152787644	Silent	SNP	A	C3N-00175_TP	207852	152787644	96168778	68	10218											
IVL	0	.	GRCh38	chr1	152910890	152910890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggaagggcagctggggCtcccagagcagcaggtgctg	9	4	17	11	0	0	1	0	0	0	1	1	2	1	2	2	5	4	6	2	5	1	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1093C>A	p.Leu365Ile	p.L365I	ENST00000368764	2/2	494	357	137	349	349	0	strelka-varscan-mutect	IVL,missense_variant,p.Leu365Ile,ENST00000368764,NM_005547.2;	A	ENST00000368764	Transcript	missense_variant	1157/2153	1093/1758	365/585	L/I	Ctc/Atc		1		1	IVL	HGNC	HGNC:6187	protein_coding	YES	CCDS1030.1	ENSP00000357753	P07476		UPI000013E24A	NM_005547.2	tolerated(0.24)		2/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	152910890	152910890	C	A	1	0	0	0	0	1	0	0	0	7835	797	28	2		2	IVL	1	152910890	Missense_Mutation	SNP	C	C3N-00175_TP	123246	152910890	96045532	69	10219											
UBE2Q1	0	.	GRCh38	chr1	154558426	154558426	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	actcgagcagcttcagctctCgcctcaggcagggccccggc	6	6	12	17	3	3	0	2	0	1	0	5	1	3	0	3	3	3	4	3	3	0	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.128G>C	p.Arg43Pro	p.R43P	ENST00000292211	1/13	345	319	26	181	181	0	strelka-varscan-mutect	UBE2Q1,missense_variant,p.Arg43Pro,ENST00000292211,NM_017582.6;UBE2Q1-AS1,downstream_gene_variant,,ENST00000441613,;UBE2Q1,intron_variant,,ENST00000497453,;	G	ENST00000292211	Transcript	missense_variant	208/3210	128/1269	43/422	R/P	cGa/cCa		1		-1	UBE2Q1	HGNC	HGNC:15698	protein_coding	YES	CCDS1069.1	ENSP00000292211	Q7Z7E8		UPI00001A36E2	NM_017582.6	tolerated(0.23)		1/13		Superfamily_domains:SSF54495																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	154558426	154558426	C	G	1	0	0	0	0	1	0	0	0	17390	884	31	4		4	UBE2Q1	1	154558426	Missense_Mutation	SNP	C	C3N-00175_TP	1647536	154558426	94397996	70	10220											
DCST2	0	.	GRCh38	chr1	155033105	155033105	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacttactgacaagaggtTgcttggccctctgtagcact	8	11	12	10	0	1	2	0	1	1	1	1	3	1	3	1	3	3	4	1	3	3	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.428A>G	p.Gln143Arg	p.Q143R	ENST00000368424	2/15	92	42	50	77	77	0	strelka-varscan-mutect	DCST2,missense_variant,p.Gln143Arg,ENST00000368424,NM_144622.2;DCST1,upstream_gene_variant,,ENST00000295542,NM_152494.3;DCST1,upstream_gene_variant,,ENST00000368419,;DCST1,upstream_gene_variant,,ENST00000423025,NM_001143687.2;DCST2,missense_variant,p.Gln143Arg,ENST00000485982,;DCST2,upstream_gene_variant,,ENST00000368423,;DCST1,upstream_gene_variant,,ENST00000525273,;DCST1,upstream_gene_variant,,ENST00000368420,;	C	ENST00000368424	Transcript	missense_variant	487/2392	428/2322	143/773	Q/R	cAa/cGa		1		-1	DCST2	HGNC	HGNC:26562	protein_coding	YES	CCDS1082.2	ENSP00000357409	Q5T1A1		UPI0000D959B3	NM_144622.2	tolerated(0.06)		2/15		hmmpanther:PTHR21041:SF6,hmmpanther:PTHR21041																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	155033105	155033105	T	C	1	0	0	0	0	1	0	0	0	4105	1812	63	5		5	DCST2	1	155033105	Missense_Mutation	SNP	T	C3N-00175_TP	474679	155033105	93923317	71	10221											
DAP3	0	.	GRCh38	chr1	155729333	155729333	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcaatgctctttggggAagaaccactctgaaaagaga	15	8	11	7	0	3	3	1	1	2	2	3	6	3	5	1	3	2	1	1	3	6	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.810A>T	p.=	p.G270G	ENST00000368336	9/13	205	154	51	152	152	0	strelka-varscan-mutect	DAP3,synonymous_variant,p.=,ENST00000368336,NM_001199849.1,NM_004632.3;DAP3,synonymous_variant,p.=,ENST00000535183,NM_001199851.1;DAP3,synonymous_variant,p.=,ENST00000471642,;DAP3,synonymous_variant,p.=,ENST00000343043,NM_033657.2;DAP3,synonymous_variant,p.=,ENST00000421487,NM_001199850.1;DAP3,synonymous_variant,p.=,ENST00000471214,;DAP3,synonymous_variant,p.=,ENST00000477394,;DAP3,synonymous_variant,p.=,ENST00000497826,;DAP3,synonymous_variant,p.=,ENST00000479151,;DAP3,synonymous_variant,p.=,ENST00000490249,;DAP3,synonymous_variant,p.=,ENST00000475056,;DAP3,upstream_gene_variant,,ENST00000463295,;DAP3,downstream_gene_variant,,ENST00000463575,;DAP3,downstream_gene_variant,,ENST00000470830,;DAP3,downstream_gene_variant,,ENST00000496863,;DAP3,downstream_gene_variant,,ENST00000462002,;DAP3,non_coding_transcript_exon_variant,,ENST00000462978,;DAP3,non_coding_transcript_exon_variant,,ENST00000497433,;DAP3,downstream_gene_variant,,ENST00000471523,;DAP3,downstream_gene_variant,,ENST00000466384,;	T	ENST00000368336	Transcript	synonymous_variant	934/2089	810/1197	270/398	G	ggA/ggT		1		1	DAP3	HGNC	HGNC:2673	protein_coding	YES	CCDS1120.1	ENSP00000357320	P51398		UPI000004ABE5	NM_001199849.1,NM_004632.3			9/13		Pfam_domain:PF10236,hmmpanther:PTHR12810,hmmpanther:PTHR12810:SF0,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	155729333	155729333	A	T	1	0	0	0	0	0	0	0	1	4035	233	9	4		4	DAP3	1	155729333	Silent	SNP	A	C3N-00175_TP	696228	155729333	93227089	72	10222											
GON4L	0	.	GRCh38	chr1	155777682	155777682	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaatcagagtctgatgAactttctcactctggggttt	9	14	9	9	0	4	4	2	2	3	2	6	4	5	4	1	2	1	1	1	2	2	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2031T>C	p.=	p.V677V	ENST00000368331	15/32	487	455	32	310	310	0	strelka-varscan-mutect	GON4L,synonymous_variant,p.=,ENST00000368331,NM_001282860.1;GON4L,synonymous_variant,p.=,ENST00000615926,NM_001282856.1;GON4L,synonymous_variant,p.=,ENST00000437809,;GON4L,synonymous_variant,p.=,ENST00000271883,NM_001282858.1;GON4L,synonymous_variant,p.=,ENST00000620426,;GON4L,synonymous_variant,p.=,ENST00000361040,NM_001282861.1,NM_032292.5;GON4L,synonymous_variant,p.=,ENST00000622608,;GON4L,non_coding_transcript_exon_variant,,ENST00000471341,;GON4L,non_coding_transcript_exon_variant,,ENST00000482386,;GON4L,non_coding_transcript_exon_variant,,ENST00000466224,;GON4L,upstream_gene_variant,,ENST00000497369,;GON4L,upstream_gene_variant,,ENST00000490801,;	G	ENST00000368331	Transcript	synonymous_variant	2206/7823	2031/6726	677/2241	V	gtT/gtC		1		-1	GON4L	HGNC	HGNC:25973	protein_coding	YES	CCDS60296.1	ENSP00000357315	Q3T8J9		UPI0000351551	NM_001282860.1			15/32		hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF11																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	39	155777682	155777682	A	G	1	0	0	0	0	0	0	0	1	6466	233	9	5		5	GON4L	1	155777682	Silent	SNP	A	C3N-00175_TP	48349	155777682	93178740	73	10223											
PEAR1	0	.	GRCh38	chr1	156906334	156906334	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccaatcagtgccaatgTgtgccaggctggcggggcga	8	6	15	12	2	1	0	1	0	0	0	1	1	1	0	3	4	2	2	3	4	2	0	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.366T>A	p.Cys122Ter	p.C122*	ENST00000338302	6/24	238	183	55	220	220	0	strelka-varscan-mutect	PEAR1,stop_gained,p.Cys122Ter,ENST00000338302,;PEAR1,stop_gained,p.Cys122Ter,ENST00000292357,NM_001080471.1;PEAR1,stop_gained,p.Cys122Ter,ENST00000455314,;PEAR1,3_prime_UTR_variant,,ENST00000444016,;PEAR1,non_coding_transcript_exon_variant,,ENST00000469390,;PEAR1,upstream_gene_variant,,ENST00000482505,;	A	ENST00000338302	Transcript	stop_gained	591/4970	366/3114	122/1037	C/*	tgT/tgA		1		1	PEAR1	HGNC	HGNC:33631	protein_coding	YES	CCDS30892.1	ENSP00000344465	Q5VY43		UPI000045889A				6/24		PROSITE_profiles:PS50026,hmmpanther:PTHR24052,hmmpanther:PTHR24052:SF12,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,Pfam_domain:PF12661,Gene3D:2gy5A03,SMART_domains:SM00181																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	39	156906334	156906334	T	A	1	0	0	0	0	0	1	0	0	11801	1702	59	4		4	PEAR1	1	156906334	Nonsense_Mutation	SNP	T	C3N-00175_TP	1128652	156906334	92050088	74	10224											
FCRL5	0	.	GRCh38	chr1	157544276	157544276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttactctgcacctgtatcCaggatctcgggctgtcagat	8	12	9	12	1	3	1	1	0	2	1	5	2	4	2	2	2	2	3	2	2	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.830G>T	p.Trp277Leu	p.W277L	ENST00000361835	5/17	250	187	63	152	152	0	strelka-varscan-mutect	FCRL5,missense_variant,p.Trp277Leu,ENST00000361835,NM_001195388.1,NM_031281.2;FCRL5,missense_variant,p.Trp277Leu,ENST00000368189,;FCRL5,missense_variant,p.Trp277Leu,ENST00000368190,;FCRL5,non_coding_transcript_exon_variant,,ENST00000481082,;	A	ENST00000361835	Transcript	missense_variant	988/5390	830/2934	277/977	W/L	tGg/tTg		1		-1	FCRL5	HGNC	HGNC:18508	protein_coding	YES	CCDS1165.1	ENSP00000354691	Q96RD9		UPI0000458907	NM_001195388.1,NM_031281.2	tolerated(0.64)		5/17		hmmpanther:PTHR11481:SF68,hmmpanther:PTHR11481,Gene3D:2.60.40.10,SMART_domains:SM00409																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	157544276	157544276	C	A	1	0	0	0	0	1	0	0	0	5660	595	21	2		2	FCRL5	1	157544276	Missense_Mutation	SNP	C	C3N-00175_TP	637942	157544276	91412146	75	10225											
OR10T2	0	.	GRCh38	chr1	158398627	158398627	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattaagtaagggagtaacCactgtgtaggtcactgccac	12	9	12	8	0	1	0	1	0	0	0	1	2	1	2	2	3	2	3	2	3	4	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.840G>T	p.=	p.V280V	ENST00000334438	1/1	424	389	35	268	267	1	strelka-varscan-mutect	OR10T2,synonymous_variant,p.=,ENST00000334438,NM_001004475.1;	A	ENST00000334438	Transcript	synonymous_variant	840/945	840/945	280/314	V	gtG/gtT		1		-1	OR10T2	HGNC	HGNC:14816	protein_coding	YES	CCDS30895.1	ENSP00000334115	Q8NGX3	A0A126GV74	UPI000003F220	NM_001004475.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF98,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												A	2	1	39	158398627	158398627	C	A	1	0	0	0	0	0	0	0	1	10996	581	21	2		2	OR10T2	1	158398627	Silent	SNP	C	C3N-00175_TP	854351	158398627	90557795	76	10226											
OR10T2	0	.	GRCh38	chr1	158399100	158399100	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtgacaaattgctacatagcGatcatatcccatcacagcaa	15	9	6	11	1	2	1	2	1	0	0	3	2	3	1	1	0	4	2	1	0	5	4	rs539828963		C3N-00175_TP	C3N-00175_NB	G	G																c.367C>G	p.Arg123Gly	p.R123G	ENST00000334438	1/1	309	260	49	194	194	0	strelka-varscan-mutect	OR10T2,missense_variant,p.Arg123Gly,ENST00000334438,NM_001004475.1;	C	ENST00000334438	Transcript	missense_variant	367/945	367/945	123/314	R/G	Cgc/Ggc	rs539828963,COSM3476043	1		-1	OR10T2	HGNC	HGNC:14816	protein_coding	YES	CCDS30895.1	ENSP00000334115	Q8NGX3	A0A126GV74	UPI000003F220	NM_001004475.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF98,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs539828963	.												C	3	2	39	158399100	158399100	G	C	1	0	0	0	0	1	0	0	0	10996	1058	37	4		4	OR10T2	1	158399100	Missense_Mutation	SNP	G	C3N-00175_TP	473	158399100	90557322	77	10227											
OR6Y1	0	.	GRCh38	chr1	158547516	158547516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaccatctcagcctgtgagGcatcctcacaggagacgtta	10	8	9	14	1	2	2	2	1	1	1	4	3	3	2	4	2	1	2	4	2	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.590C>T	p.Ala197Val	p.A197V	ENST00000302617	1/1	249	204	45	209	209	0	strelka-varscan-mutect	OR6Y1,missense_variant,p.Ala197Val,ENST00000302617,NM_001005189.1;	A	ENST00000302617	Transcript	missense_variant	590/978	590/978	197/325	A/V	gCc/gTc		1		-1	OR6Y1	HGNC	HGNC:14823	protein_coding	YES	CCDS30899.1	ENSP00000304807	Q8NGX8		UPI000004B1E2	NM_001005189.1	tolerated(0.61)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF109,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	158547516	158547516	G	A	1	0	0	0	0	1	0	0	0	11283	1203	42	3		3	OR6Y1	1	158547516	Missense_Mutation	SNP	G	C3N-00175_TP	148416	158547516	90408906	78	10228											
OR6Y1	0	.	GRCh38	chr1	158547794	158547794	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaaaaaagtaaagttgAgtcatgcagccattgaagga	17	8	10	6	0	2	2	2	2	0	0	2	3	2	3	1	1	2	3	1	1	6	3			C3N-00175_TP	C3N-00175_NB	A	A																c.312T>A	p.=	p.T104T	ENST00000302617	1/1	641	491	150	441	441	0	strelka-varscan-mutect	OR6Y1,synonymous_variant,p.=,ENST00000302617,NM_001005189.1;	T	ENST00000302617	Transcript	synonymous_variant	312/978	312/978	104/325	T	acT/acA	COSM4023728	1		-1	OR6Y1	HGNC	HGNC:14823	protein_coding	YES	CCDS30899.1	ENSP00000304807	Q8NGX8		UPI000004B1E2	NM_001005189.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF109,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						LOW	1	SNV			1	1										PASS		rs1410085182	.												T	2	4	39	158547794	158547794	A	T	1	0	0	0	0	0	0	0	1	11283	291	11	4		4	OR6Y1	1	158547794	Silent	SNP	A	C3N-00175_TP	278	158547794	90408628	79	10229											
SPTA1	0	.	GRCh38	chr1	158619311	158619311	+	Missense_Mutation	SNP	C	C	A																															ttgacctgtcttgcctcttcCttttgcagctcctgctcccg																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.6441G>T	p.Lys2147Asn	p.K2147N	ENST00000368147	45/52	691	596	95	514	514	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Lys2147Asn,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000484520,;SPTA1,downstream_gene_variant,,ENST00000461624,;SPTA1,upstream_gene_variant,,ENST00000492934,;SPTA1,upstream_gene_variant,,ENST00000481212,;SPTA1,upstream_gene_variant,,ENST00000498708,;	A	ENST00000368147	Transcript	missense_variant	6622/7999	6441/7260	2147/2419	K/N	aaG/aaT		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0.03)		45/52		Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Gene3D:1.20.58.60,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	158619311	158619311	C	A	1	0	0	0	0	1	0	0	0	15472	680	24	2		2	SPTA1	1	158619311	Missense_Mutation	SNP	C	C3N-00175_TP	71517	158619311	90337111	80	10230	233	2									
SPTA1	0	.	GRCh38	chr1	158619315	158619315	+	Missense_Mutation	SNP	T	T	G																															cctgtcttgcctcttcctttTgcagctcctgctcccgttcc																								rs138055271		C3N-00175_TP	C3N-00175_NB	T	T																c.6437A>C	p.Gln2146Pro	p.Q2146P	ENST00000368147	45/52	686	592	94	497	496	1	strelka-varscan-mutect	SPTA1,missense_variant,p.Gln2146Pro,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000484520,;SPTA1,downstream_gene_variant,,ENST00000461624,;SPTA1,upstream_gene_variant,,ENST00000492934,;SPTA1,upstream_gene_variant,,ENST00000481212,;SPTA1,upstream_gene_variant,,ENST00000498708,;	G	ENST00000368147	Transcript	missense_variant	6618/7999	6437/7260	2146/2419	Q/P	cAa/cCa	rs138055271	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	tolerated(0.08)		45/52		Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		rs138055271	.												G	3	3	39	158619315	158619315	T	G	1	0	0	0	0	1	0	0	0	15472	1812	63	5		5	SPTA1	1	158619315	Missense_Mutation	SNP	T	C3N-00175_TP	4	158619315	90337107	81	10231	233	2									
SPTA1	0	.	GRCh38	chr1	158648631	158648631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcatttcttctcaatctGctccttcgtgtcatctgctt	4	18	6	13	1	5	0	2	0	4	0	8	0	6	0	1	1	2	3	1	1	1	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.3592C>A	p.Gln1198Lys	p.Q1198K	ENST00000368147	26/52	583	457	126	418	417	1	strelka-varscan-mutect	SPTA1,missense_variant,p.Gln1198Lys,ENST00000368147,NM_003126.2;	T	ENST00000368147	Transcript	missense_variant	3773/7999	3592/7260	1198/2419	Q/K	Cag/Aag		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	tolerated(0.16)		26/52		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	158648631	158648631	G	T	1	0	0	0	0	1	0	0	0	15472	1328	46	2		2	SPTA1	1	158648631	Missense_Mutation	SNP	G	C3N-00175_TP	29316	158648631	90307791	82	10232											
SPTA1	0	.	GRCh38	chr1	158677781	158677781	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtctttgccatagtcctcaGaggtgagtacaggttccttc	7	13	11	10	0	2	2	1	1	1	1	5	2	4	2	3	3	2	2	3	3	2	5	rs763960188		C3N-00175_TP	C3N-00175_NB	G	G																c.866C>G	p.Ser289Cys	p.S289C	ENST00000368147	7/52	437	414	23	307	307	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Ser289Cys,ENST00000368147,NM_003126.2;SPTA1,missense_variant,p.Ser107Cys,ENST00000467387,;	C	ENST00000368147	Transcript	missense_variant	1047/7999	866/7260	289/2419	S/C	tCt/tGt	rs763960188	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0)		7/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		rs763960188	.												C	3	2	39	158677781	158677781	G	C	1	0	0	0	0	1	0	0	0	15472	942	33	4		4	SPTA1	1	158677781	Missense_Mutation	SNP	G	C3N-00175_TP	29150	158677781	90278641	83	10233											
OR6K2	0	.	GRCh38	chr1	158699701	158699701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcttacttgaggtccCtggtcttacggaaaaaaata	15	12	7	7	1	2	1	0	1	2	0	3	2	3	2	1	3	2	0	1	3	8	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.952G>T	p.Gly318Trp	p.G318W	ENST00000359610	1/1	100	70	30	66	66	0	strelka-varscan-mutect	OR6K2,missense_variant,p.Gly318Trp,ENST00000359610,NM_001005279.1;OR6K1P,upstream_gene_variant,,ENST00000456766,;	A	ENST00000359610	Transcript	missense_variant	952/975	952/975	318/324	G/W	Ggg/Tgg		1		-1	OR6K2	HGNC	HGNC:15029	protein_coding	YES	CCDS30902.1	ENSP00000352626	Q8NGY2	A0A126GV58	UPI000004B208	NM_001005279.1	deleterious_low_confidence(0)		1/1																			MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	158699701	158699701	C	A	1	0	0	0	0	1	0	0	0	11271	681	24	2		2	OR6K2	1	158699701	Missense_Mutation	SNP	C	C3N-00175_TP	21920	158699701	90256721	84	10234											
OR6K2	0	.	GRCh38	chr1	158699920	158699920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcgaaaagacaatgaagtGagagacacacgtggaaaatg	19	4	13	5	2	0	4	0	2	0	2	0	8	0	5	0	1	1	0	0	1	6	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.733C>T	p.His245Tyr	p.H245Y	ENST00000359610	1/1	432	344	88	307	307	0	strelka-varscan-mutect	OR6K2,missense_variant,p.His245Tyr,ENST00000359610,NM_001005279.1;OR6K1P,upstream_gene_variant,,ENST00000456766,;	A	ENST00000359610	Transcript	missense_variant	733/975	733/975	245/324	H/Y	Cac/Tac		1		-1	OR6K2	HGNC	HGNC:15029	protein_coding	YES	CCDS30902.1	ENSP00000352626	Q8NGY2	A0A126GV58	UPI000004B208	NM_001005279.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF68,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	158699920	158699920	G	A	1	0	0	0	0	1	0	0	0	11271	1290	45	3		3	OR6K2	1	158699920	Missense_Mutation	SNP	G	C3N-00175_TP	219	158699920	90256502	85	10235											
OR6K6	0	.	GRCh38	chr1	158755678	158755678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctgtcatgtatttgaGattctcagccacctactcag	8	14	9	10	0	3	1	3	1	1	1	4	2	3	1	2	1	2	2	2	1	2	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.863G>T	p.Arg288Ile	p.R288I	ENST00000368144	1/1	228	170	58	175	175	0	strelka-varscan-mutect	OR6K6,missense_variant,p.Arg288Ile,ENST00000368144,NM_001005184.1;	T	ENST00000368144	Transcript	missense_variant	959/1172	863/1032	288/343	R/I	aGa/aTa		1		1	OR6K6	HGNC	HGNC:15033	protein_coding	YES	CCDS30904.1	ENSP00000357126	Q8NGW6		UPI000015F229	NM_001005184.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF132,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs915368711	.												T	3	4	39	158755678	158755678	G	T	1	0	0	0	0	1	0	0	0	11273	942	33	2		2	OR6K6	1	158755678	Missense_Mutation	SNP	G	C3N-00175_TP	55758	158755678	90200744	86	10236											
OR10J3	0	.	GRCh38	chr1	159313824	159313824	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtaggggagtgatgagtgTaggtcactgagatgagtctg	10	10	17	4	0	2	4	1	4	1	1	2	6	2	5	0	3	0	2	0	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.836A>T	p.Tyr279Phe	p.Y279F	ENST00000332217	1/1	348	287	61	221	221	0	strelka-varscan-mutect	OR10J3,missense_variant,p.Tyr279Phe,ENST00000332217,NM_001004467.1;	A	ENST00000332217	Transcript	missense_variant	836/990	836/990	279/329	Y/F	tAc/tTc		1		-1	OR10J3	HGNC	HGNC:14992	protein_coding	YES	CCDS30909.1	ENSP00000331789	Q5JRS4		UPI0000441EEF	NM_001004467.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF28,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	159313824	159313824	T	A	1	0	0	0	0	1	0	0	0	10988	1638	57	4		4	OR10J3	1	159313824	Missense_Mutation	SNP	T	C3N-00175_TP	558146	159313824	89642598	87	10237											
OR10J1	0	.	GRCh38	chr1	159440108	159440108	+	Frame_Shift_Del	DEL	C	C	-																															acagatgttcttttttgtaaCctttggcatcactaactgct																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.351delC	p.Phe118LeufsTer24	p.F118Lfs*24	ENST00000423932	1/1	332	295	37	281	281	0	sindel-varindel	OR10J1,frameshift_variant,p.Phe118LeufsTer24,ENST00000423932,NM_012351.2;RP11-550P17.5,intron_variant,,ENST00000431862,;	-	ENST00000423932	Transcript	frameshift_variant	387/1090	350/963	117/320	T/X	aCc/ac		1		1	OR10J1	HGNC	HGNC:8175	protein_coding	YES	CCDS1185.1	ENSP00000399078	P30954		UPI000013E7DA	NM_012351.2			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF417,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	HIGH		deletion		1		1										PASS		.	.												-	7	5	39	159440108	159440108	C	-	1	0	1	0	1	0	0	0	0	10987	507	18	0		0	OR10J1	1	159440108	Frame_Shift_Del	DEL	C	C3N-00175_TP	126284	159440108	89516314	88	10238	234	3									
OR10J1	0	.	GRCh38	chr1	159440109	159440109	+	Silent	SNP	C	C	A																															cagatgttcttttttgtaacCtttggcatcactaactgctt																										C3N-00175_TP	C3N-00175_NB	C	C																c.351C>A	p.=	p.T117T	ENST00000423932	1/1	365	329	36	279	279	0	strelka-mutect	OR10J1,synonymous_variant,p.=,ENST00000423932,NM_012351.2;RP11-550P17.5,intron_variant,,ENST00000431862,;	A	ENST00000423932	Transcript	synonymous_variant	388/1090	351/963	117/320	T	acC/acA	COSM3664953,COSM3664954	1		1	OR10J1	HGNC	HGNC:8175	protein_coding	YES	CCDS1185.1	ENSP00000399078	P30954		UPI000013E7DA	NM_012351.2			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF417,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1,1						LOW		SNV			1,1	1										PASS		.	.												A	2	1	39	159440109	159440109	C	A	1	0	0	0	0	0	0	0	1	10987	668	24	2		2	OR10J1	1	159440109	Silent	SNP	C	C3N-00175_TP	1	159440109	89516313	89	10239	234	3									
OR10J1	0	.	GRCh38	chr1	159440110	159440110	+	Missense_Mutation	SNP	T	T	A																															agatgttcttttttgtaaccTttggcatcactaactgcttc																								novel		C3N-00175_TP	C3N-00175_NB	T	T																c.352T>A	p.Phe118Ile	p.F118I	ENST00000423932	1/1	365	329	36	281	281	0	strelka-mutect	OR10J1,missense_variant,p.Phe118Ile,ENST00000423932,NM_012351.2;RP11-550P17.5,intron_variant,,ENST00000431862,;	A	ENST00000423932	Transcript	missense_variant	389/1090	352/963	118/320	F/I	Ttt/Att		1		1	OR10J1	HGNC	HGNC:8175	protein_coding	YES	CCDS1185.1	ENSP00000399078	P30954		UPI000013E7DA	NM_012351.2	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF417,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE		SNV				1										PASS		.	.												A	3	1	39	159440110	159440110	T	A	1	0	0	0	0	1	0	0	0	10987	1609	56	4		4	OR10J1	1	159440110	Missense_Mutation	SNP	T	C3N-00175_TP	1	159440110	89516312	90	10240	234	3									
NCSTN	0	.	GRCh38	chr1	160349664	160349664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacagtgcccaaatgatGggtttggtaagtgtcccaaa	11	11	12	7	0	0	1	0	1	0	0	1	1	1	1	2	2	2	3	2	2	4	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.430G>T	p.Gly144Trp	p.G144W	ENST00000294785	4/17	707	579	128	393	392	1	strelka-varscan-mutect	NCSTN,missense_variant,p.Gly124Trp,ENST00000368063,NM_001290184.1;NCSTN,missense_variant,p.Gly144Trp,ENST00000294785,NM_001290186.1,NM_015331.2;NCSTN,missense_variant,p.Gly2Trp,ENST00000424645,;NCSTN,missense_variant,p.Gly144Trp,ENST00000421914,;NCSTN,missense_variant,p.Gly177Trp,ENST00000438008,;NCSTN,upstream_gene_variant,,ENST00000435149,;NCSTN,upstream_gene_variant,,ENST00000424754,;NCSTN,downstream_gene_variant,,ENST00000437169,;NCSTN,non_coding_transcript_exon_variant,,ENST00000459963,;NCSTN,non_coding_transcript_exon_variant,,ENST00000467837,;NCSTN,non_coding_transcript_exon_variant,,ENST00000491332,;NCSTN,downstream_gene_variant,,ENST00000465223,;	T	ENST00000294785	Transcript	missense_variant	555/2936	430/2130	144/709	G/W	Ggg/Tgg		1		1	NCSTN	HGNC	HGNC:17091	protein_coding	YES	CCDS1203.1	ENSP00000294785	Q92542		UPI0000042050	NM_001290186.1,NM_015331.2	deleterious(0.01)		4/17		hmmpanther:PTHR21092:SF0,hmmpanther:PTHR21092																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	160349664	160349664	G	T	1	0	0	0	0	1	0	0	0	10261	1348	47	2		2	NCSTN	1	160349664	Missense_Mutation	SNP	G	C3N-00175_TP	909554	160349664	88606758	91	10241											
NHLH1	0	.	GRCh38	chr1	160370767	160370767	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaccatggagctggacctGccgcccacccactcagagac	10	4	10	17	1	1	1	1	0	0	1	1	5	1	3	5	2	2	1	5	2	0	0			C3N-00175_TP	C3N-00175_NB	G	G																c.36G>T	p.=	p.L12L	ENST00000302101	2/2	463	355	108	269	269	0	strelka-varscan-mutect	NHLH1,synonymous_variant,p.=,ENST00000302101,NM_005598.3;	T	ENST00000302101	Transcript	synonymous_variant	482/2563	36/402	12/133	L	ctG/ctT	COSM4142895	1		1	NHLH1	HGNC	HGNC:7817	protein_coding	YES	CCDS1204.1	ENSP00000302189	Q02575	Q5T203	UPI000012C5FE	NM_005598.3			2/2		hmmpanther:PTHR13864,hmmpanther:PTHR13864:SF20											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	39	160370767	160370767	G	T	1	0	0	0	0	0	0	0	1	10436	1306	46	2		2	NHLH1	1	160370767	Silent	SNP	G	C3N-00175_TP	21103	160370767	88585655	92	10242											
MPZ	0	.	GRCh38	chr1	161307271	161307271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcaccgaaatggcatctCtgcccccttcgggctggtag	7	9	10	15	2	2	0	1	0	1	0	4	1	2	0	3	3	1	3	3	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.221G>A	p.Arg74Lys	p.R74K	ENST00000533357	2/6	552	524	28	367	367	0	strelka-varscan-mutect	MPZ,missense_variant,p.Arg74Lys,ENST00000533357,NM_001315491.1,NM_000530.6;MPZ,5_prime_UTR_variant,,ENST00000491222,;MPZ,upstream_gene_variant,,ENST00000526189,;MPZ,missense_variant,p.Arg74Lys,ENST00000463290,;MPZ,upstream_gene_variant,,ENST00000476410,;MPZ,upstream_gene_variant,,ENST00000488271,;	T	ENST00000533357	Transcript	missense_variant	288/1955	221/747	74/248	R/K	aGa/aAa		1		-1	MPZ	HGNC	HGNC:7225	protein_coding	YES	CCDS1229.2	ENSP00000432943	P25189		UPI000012FBB1	NM_001315491.1,NM_000530.6	tolerated(0.27)		2/6		Gene3D:2.60.40.10,Pfam_domain:PF07686,Prints_domain:PR00213,PROSITE_profiles:PS50835,hmmpanther:PTHR13869,hmmpanther:PTHR13869:SF7,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	161307271	161307271	C	T	1	0	0	0	0	1	0	0	0	9714	913	32	3		3	MPZ	1	161307271	Missense_Mutation	SNP	C	C3N-00175_TP	936504	161307271	87649151	93	10243											
FCRLB	0	.	GRCh38	chr1	161723011	161723011	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcagtgggcaagctggTgagtcttataaatttctcat	11	12	10	8	0	2	1	1	1	2	0	3	1	2	1	1	2	2	3	1	2	5	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.52+2T>G		p.X18_splice	ENST00000367948		253	223	30	203	203	0	strelka-varscan-mutect	FCRLB,splice_donor_variant,,ENST00000367948,NM_001320241.1,NM_001002901.3;FCRLB,splice_donor_variant,,ENST00000336830,NM_001288831.1;FCRLB,splice_donor_variant,,ENST00000367946,NM_001288829.1;FCRLB,intron_variant,,ENST00000367944,NM_001288832.1;FCRLB,intron_variant,,ENST00000367945,NM_001288830.1;FCRLB,upstream_gene_variant,,ENST00000495397,;	G	ENST00000367948	Transcript	splice_donor_variant	-/1977	52/1281	18/426				1		1	FCRLB	HGNC	HGNC:26431	protein_coding	YES	CCDS30927.1	ENSP00000356925	Q6BAA4		UPI00003FF782	NM_001320241.1,NM_001002901.3				4/7																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	39	161723011	161723011	T	G	1	0	0	0	0	0	0	1	0	5663	1710	59	5		5	FCRLB	1	161723011	Splice_Site	SNP	T	C3N-00175_TP	415740	161723011	87233411	94	10244											
RGS4	0	.	GRCh38	chr1	163074481	163074481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcttgatttggtcaaccCgtccagctgtggggcagaaa	9	11	11	10	1	2	2	1	1	1	1	3	2	3	2	2	3	2	2	2	3	3	3	rs368964432		C3N-00175_TP	C3N-00175_NB	C	C																c.830C>A	p.Pro277Gln	p.P277Q	ENST00000421743	6/6	659	528	131	516	515	1	strelka-varscan-mutect	RGS4,missense_variant,p.Pro277Gln,ENST00000421743,NM_001102445.2;RGS4,missense_variant,p.Pro180Gln,ENST00000367909,NM_005613.5;RGS4,missense_variant,p.Pro162Gln,ENST00000367906,NM_001113380.1;RGS4,missense_variant,p.Pro162Gln,ENST00000527809,;RGS4,3_prime_UTR_variant,,ENST00000367908,NM_001113381.1;RGS4,intron_variant,,ENST00000531057,;RGS4,downstream_gene_variant,,ENST00000528938,;RGS4,non_coding_transcript_exon_variant,,ENST00000491263,;RGS4,downstream_gene_variant,,ENST00000527393,;RGS4,downstream_gene_variant,,ENST00000533019,;	A	ENST00000421743	Transcript	missense_variant	990/3311	830/909	277/302	P/Q	cCg/cAg	rs368964432,COSM1295390,COSM1295391	1		1	RGS4	HGNC	HGNC:10000	protein_coding	YES	CCDS44270.1	ENSP00000397181	P49798		UPI0000E1EDBA	NM_001102445.2	tolerated(0.77)		6/6		hmmpanther:PTHR10845:SF184,hmmpanther:PTHR10845,Gene3D:1.10.196.10											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs368964432	.												A	3	1	39	163074481	163074481	C	A	1	0	0	0	0	1	0	0	0	13478	652	23	1		1	RGS4	1	163074481	Missense_Mutation	SNP	C	C3N-00175_TP	1351470	163074481	85881941	95	10245											
GPA33	0	.	GRCh38	chr1	167068995	167068995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgagacagaacactcgtaGgtgccgttgtcagccatggt	10	8	13	10	3	1	2	1	0	0	2	2	3	1	2	2	2	4	2	2	2	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.342C>T	p.=	p.T114T	ENST00000367868	3/7	407	337	70	308	307	1	strelka-varscan-mutect	GPA33,synonymous_variant,p.=,ENST00000367868,NM_005814.2;GPA33,synonymous_variant,p.=,ENST00000632571,;GPA33,non_coding_transcript_exon_variant,,ENST00000527955,;GPA33,3_prime_UTR_variant,,ENST00000534512,;	A	ENST00000367868	Transcript	synonymous_variant	686/2802	342/960	114/319	T	acC/acT		1		-1	GPA33	HGNC	HGNC:4445	protein_coding	YES	CCDS1258.1	ENSP00000356842	Q99795		UPI000012502D	NM_005814.2			3/7		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF11,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	167068995	167068995	G	A	1	0	0	0	0	0	0	0	1	6481	987	35	3		3	GPA33	1	167068995	Silent	SNP	G	C3N-00175_TP	3994514	167068995	81887427	96	10246											
DUSP27	0	.	GRCh38	chr1	167128414	167128414	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccagagctttatgaggTctgaagaagagggagagaaa	15	7	13	6	0	2	6	1	2	1	4	2	8	2	7	1	2	1	1	1	2	4	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.3283T>A	p.Ser1095Thr	p.S1095T	ENST00000361200	6/6	504	438	66	362	362	0	strelka-varscan-mutect	DUSP27,missense_variant,p.Ser1095Thr,ENST00000361200,;DUSP27,missense_variant,p.Ser1095Thr,ENST00000443333,NM_001080426.1;DUSP27,missense_variant,p.Ser1095Thr,ENST00000271385,;GPA33,intron_variant,,ENST00000632571,;DUSP27,intron_variant,,ENST00000485151,;	A	ENST00000361200	Transcript	missense_variant	3449/4164	3283/3477	1095/1158	S/T	Tct/Act		1		1	DUSP27	HGNC	HGNC:25034	protein_coding	YES	CCDS30932.1	ENSP00000354483	Q5VZP5		UPI000040DFF5		deleterious(0)		6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR10159:SF25,hmmpanther:PTHR10159																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	167128414	167128414	T	A	1	0	0	0	0	1	0	0	0	4646	1667	58	4		4	DUSP27	1	167128414	Missense_Mutation	SNP	T	C3N-00175_TP	59419	167128414	81828008	97	10247											
SUCO	0	.	GRCh38	chr1	172602146	172602146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctttgtatgcagcgttgtcGaaatacttctcaatttgatg	9	16	9	7	2	1	1	1	1	1	0	3	2	1	1	0	0	3	4	0	0	4	6	rs199640710		C3N-00175_TP	C3N-00175_NB	G	G																c.3554G>A	p.Arg1185Gln	p.R1185Q	ENST00000367723	20/23	230	201	29	178	178	0	strelka-varscan-mutect	SUCO,missense_variant,p.Arg1185Gln,ENST00000367723,NM_016227.3;SUCO,missense_variant,p.Arg1185Gln,ENST00000608151,;SUCO,missense_variant,p.Arg1034Gln,ENST00000263688,NM_014283.4;SUCO,missense_variant,p.Arg471Gln,ENST00000616058,NM_001282751.1;SUCO,missense_variant,p.Arg663Gln,ENST00000610051,NM_001282750.1;SUCO,upstream_gene_variant,,ENST00000486569,;	A	ENST00000367723	Transcript	missense_variant	3678/5916	3554/4218	1185/1405	R/Q	cGa/cAa	rs199640710,COSM899675,COSM899676	1		1	SUCO	HGNC	HGNC:1240	protein_coding	YES	CCDS65726.1	ENSP00000356696	Q9UBS9	A0A024R929	UPI0000EE3C11	NM_016227.3	deleterious(0.01)		20/23		hmmpanther:PTHR12953:SF0,hmmpanther:PTHR12953											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs199640710	.												A	3	1	39	172602146	172602146	G	A	1	0	0	0	0	1	0	0	0	15751	1058	37	1		1	SUCO	1	172602146	Missense_Mutation	SNP	G	C3N-00175_TP	5473732	172602146	76354276	98	10248											
TNN	0	.	GRCh38	chr1	175077652	175077652	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggccctgggggaggcCagggaggaacagaacatcat	10	6	15	10	0	2	1	1	0	1	1	2	4	2	4	2	6	2	0	2	6	2	1	rs766246631		C3N-00175_TP	C3N-00175_NB	C	C																c.234C>A	p.=	p.A78A	ENST00000239462	2/19	210	191	19	204	203	1	strelka-varscan-mutect	TNN,synonymous_variant,p.=,ENST00000239462,NM_022093.1;TNN,synonymous_variant,p.=,ENST00000621086,;TNN,synonymous_variant,p.=,ENST00000622870,;	A	ENST00000239462	Transcript	synonymous_variant	347/5008	234/3900	78/1299	A	gcC/gcA	rs766246631	1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1			2/19																			LOW	1	SNV	2			1										PASS		rs766246631	.												A	2	1	39	175077652	175077652	C	A	1	0	0	0	0	0	0	0	1	16796	581	21	2		2	TNN	1	175077652	Silent	SNP	C	C3N-00175_TP	2475506	175077652	73878770	99	10249											
TNN	0	.	GRCh38	chr1	175079425	175079425	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagggccccgcctgcgagCggctggcctgccccggggcg	2	3	20	16	5	0	0	0	0	0	0	0	2	0	1	6	6	3	1	6	6	0	0	rs768377373		C3N-00175_TP	C3N-00175_NB	C	C																c.502C>A	p.=	p.R168R	ENST00000239462	3/19	225	194	31	182	182	0	strelka-varscan-mutect	TNN,synonymous_variant,p.=,ENST00000239462,NM_022093.1;TNN,synonymous_variant,p.=,ENST00000621086,;TNN,synonymous_variant,p.=,ENST00000622870,;	A	ENST00000239462	Transcript	synonymous_variant	615/5008	502/3900	168/1299	R	Cgg/Agg	rs768377373	1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1			3/19		hmmpanther:PTHR19143:SF252,hmmpanther:PTHR19143																	LOW	1	SNV	2			1										PASS		rs768377373	.												A	2	1	39	175079425	175079425	C	A	1	0	0	0	0	0	0	0	1	16796	759	27	1		1	TNN	1	175079425	Silent	SNP	C	C3N-00175_TP	1773	175079425	73876997	100	10250											
TNN	0	.	GRCh38	chr1	175097515	175097515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccattgacaagtacgtgGtgcgctacacctctgctgac	9	9	9	14	2	1	2	0	2	1	0	1	2	1	2	3	1	4	3	3	1	3	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1687G>T	p.Val563Leu	p.V563L	ENST00000239462	8/19	556	426	130	471	470	1	strelka-varscan-mutect	TNN,missense_variant,p.Val563Leu,ENST00000239462,NM_022093.1;TNN,intron_variant,,ENST00000621086,;TNN,intron_variant,,ENST00000622870,;	T	ENST00000239462	Transcript	missense_variant	1800/5008	1687/3900	563/1299	V/L	Gtg/Ttg		1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1	tolerated(0.61)		8/19		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	175097515	175097515	G	T	1	0	0	0	0	1	0	0	0	16796	1261	44	2		2	TNN	1	175097515	Missense_Mutation	SNP	G	C3N-00175_TP	18090	175097515	73858907	101	10251											
TNN	0	.	GRCh38	chr1	175123541	175123541	+	Frame_Shift_Del	DEL	T	T	-																															agagaccagggaggttccggTggggaaggagcacagcagca																								novel		C3N-00175_TP	C3N-00175_NB	T	T																c.2792delT	p.Val931GlyfsTer10	p.V931Gfs*10	ENST00000239462	12/19	407	369	38	402	402	0	sindel-varindel	TNN,frameshift_variant,p.Val931GlyfsTer10,ENST00000239462,NM_022093.1;TNN,frameshift_variant,p.Val754GlyfsTer10,ENST00000621086,;TNN,frameshift_variant,p.Val754GlyfsTer10,ENST00000622870,;	-	ENST00000239462	Transcript	frameshift_variant	2905/5008	2792/3900	931/1299	V/X	gTg/gg		1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1			12/19		PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF252,hmmpanther:PTHR19143,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	39	175123541	175123541	T	-	1	0	1	0	1	0	0	0	0	16796	1696	59	0		0	TNN	1	175123541	Frame_Shift_Del	DEL	T	C3N-00175_TP	26026	175123541	73832881	102	10252	235	2									
TNN	0	.	GRCh38	chr1	175123542	175123542	+	Silent	SNP	G	G	A																															gagaccagggaggttccggtGgggaaggagcacagcagcac																										C3N-00175_TP	C3N-00175_NB	G	G																c.2793G>A	p.=	p.V931V	ENST00000239462	12/19	451	414	37	403	403	0	strelka-mutect	TNN,synonymous_variant,p.=,ENST00000239462,NM_022093.1;TNN,synonymous_variant,p.=,ENST00000621086,;TNN,synonymous_variant,p.=,ENST00000622870,;	A	ENST00000239462	Transcript	synonymous_variant	2906/5008	2793/3900	931/1299	V	gtG/gtA	COSM5265200	1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1			12/19		PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF252,hmmpanther:PTHR19143,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265											1						LOW	1	SNV	2		1	1										PASS		.	.												A	2	1	39	175123542	175123542	G	A	1	0	0	0	0	0	0	0	1	16796	1335	47	3		3	TNN	1	175123542	Silent	SNP	G	C3N-00175_TP	1	175123542	73832880	103	10253	235	2									
TNR	0	.	GRCh38	chr1	175403322	175403322	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaacagtccccagggcacCtcagttccctgcagtcctcg	7	7	9	18	2	1	0	1	0	0	0	5	1	4	0	6	1	2	3	6	1	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.794G>T	p.Arg265Met	p.R265M	ENST00000367674	4/23	373	319	54	330	330	0	strelka-varscan-mutect	TNR,missense_variant,p.Arg265Met,ENST00000367674,;TNR,missense_variant,p.Arg265Met,ENST00000263525,NM_003285.2;TNR,intron_variant,,ENST00000422274,;	A	ENST00000367674	Transcript	missense_variant	1503/12949	794/4077	265/1358	R/M	aGg/aTg		1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C		deleterious(0.01)		4/23		hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF254,SMART_domains:SM00181																	MODERATE	1	SNV	5			1										PASS		rs1204168938	.												A	3	1	39	175403322	175403322	C	A	1	0	0	0	0	1	0	0	0	16811	681	24	2		2	TNR	1	175403322	Missense_Mutation	SNP	C	C3N-00175_TP	279780	175403322	73553100	104	10254											
PAPPA2	0	.	GRCh38	chr1	176556603	176556603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaatccatcatacaggacGcagcaaaccagacactgaag	18	4	8	11	1	1	3	1	1	0	2	2	4	2	4	2	1	3	2	2	1	4	1			C3N-00175_TP	C3N-00175_NB	G	G																c.281G>A	p.Arg94His	p.R94H	ENST00000367662	2/23	333	251	82	271	271	0	strelka-varscan-mutect	PAPPA2,missense_variant,p.Arg94His,ENST00000367662,NM_020318.2;PAPPA2,missense_variant,p.Arg94His,ENST00000367661,NM_021936.2;PAPPA2,downstream_gene_variant,,ENST00000486075,;PAPPA2,downstream_gene_variant,,ENST00000493665,;	A	ENST00000367662	Transcript	missense_variant	1445/9691	281/5376	94/1791	R/H	cGc/cAc	COSM276597,COSM276598	1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2	tolerated_low_confidence(0.61)		2/23													1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1322260361	.												A	3	1	39	176556603	176556603	G	A	1	0	0	0	0	1	0	0	0	11513	1087	38	1		1	PAPPA2	1	176556603	Missense_Mutation	SNP	G	C3N-00175_TP	1153281	176556603	72399819	105	10255											
ASTN1	0	.	GRCh38	chr1	176934184	176934184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatactccagccagagtCgccgctggacctgcttgttt	6	12	9	14	2	1	1	1	0	0	1	3	2	2	2	4	1	3	3	4	1	1	4	rs199937923		C3N-00175_TP	C3N-00175_NB	C	C																c.2639G>T	p.Arg880Leu	p.R880L	ENST00000361833	16/23	125	118	7	108	108	0	strelka-varscan-mutect	ASTN1,missense_variant,p.Arg880Leu,ENST00000361833,NM_004319.2;ASTN1,missense_variant,p.Arg880Leu,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Arg880Leu,ENST00000424564,NM_207108.2;ASTN1,downstream_gene_variant,,ENST00000281881,;	A	ENST00000361833	Transcript	missense_variant	2653/7116	2639/3885	880/1294	R/L	cGa/cTa	rs199937923	1		-1	ASTN1	HGNC	HGNC:773	protein_coding	YES	CCDS1319.1	ENSP00000354536	O14525		UPI0000160388	NM_004319.2	deleterious(0)		16/23		hmmpanther:PTHR16592:SF8,hmmpanther:PTHR16592,SMART_domains:SM00457																	MODERATE	1	SNV	1			1										PASS		rs199937923	.												A	3	1	39	176934184	176934184	C	A	1	0	0	0	0	1	0	0	0	1211	884	31	1		1	ASTN1	1	176934184	Missense_Mutation	SNP	C	C3N-00175_TP	377581	176934184	72022238	106	10256											
TDRD5	0	.	GRCh38	chr1	179618631	179618631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatcagttattgcacaGattggacctggaggaactat	13	12	9	7	0	2	1	2	0	0	1	2	4	2	4	1	3	2	2	1	3	4	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.864G>T	p.Gln288His	p.Q288H	ENST00000444136	5/18	99	87	12	144	142	2	strelka-varscan-mutect	TDRD5,missense_variant,p.Gln288His,ENST00000444136,NM_001199085.1,NM_001199089.1;TDRD5,missense_variant,p.Gln288His,ENST00000367614,NM_001199091.1;TDRD5,missense_variant,p.Gln288His,ENST00000294848,NM_173533.3;	T	ENST00000444136	Transcript	missense_variant	1382/3946	864/3108	288/1035	Q/H	caG/caT		1		1	TDRD5	HGNC	HGNC:20614	protein_coding	YES	CCDS55663.1	ENSP00000406052	Q8NAT2		UPI000022AC96	NM_001199085.1,NM_001199089.1	deleterious(0.03)		5/18		hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	179618631	179618631	G	T	1	0	0	0	0	1	0	0	0	16143	933	33	2		2	TDRD5	1	179618631	Missense_Mutation	SNP	G	C3N-00175_TP	2684447	179618631	69337791	107	10257											
TDRD5	0	.	GRCh38	chr1	179630804	179630804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actatcaccaaaaaaattagGcttcttaaatgtgacagaac	18	10	5	8	0	2	2	1	1	1	1	2	2	2	2	1	1	1	1	1	1	8	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1010G>T	p.Gly337Val	p.G337V	ENST00000444136	7/18	114	77	37	120	120	0	strelka-varscan-mutect	TDRD5,missense_variant,p.Gly337Val,ENST00000444136,NM_001199085.1,NM_001199089.1;TDRD5,missense_variant,p.Gly337Val,ENST00000367614,NM_001199091.1;TDRD5,missense_variant,p.Gly337Val,ENST00000294848,NM_173533.3;	T	ENST00000444136	Transcript	missense_variant	1528/3946	1010/3108	337/1035	G/V	gGc/gTc		1		1	TDRD5	HGNC	HGNC:20614	protein_coding	YES	CCDS55663.1	ENSP00000406052	Q8NAT2		UPI000022AC96	NM_001199085.1,NM_001199089.1	deleterious(0)		7/18		Pfam_domain:PF12872,PROSITE_profiles:PS51644,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	179630804	179630804	G	T	1	0	0	0	0	1	0	0	0	16143	1203	42	2		2	TDRD5	1	179630804	Missense_Mutation	SNP	G	C3N-00175_TP	12173	179630804	69325618	108	10258											
DHX9	0	.	GRCh38	chr1	182878128	182878128	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcgagctggccgagtacGgcctggattctgctttcacc	6	9	14	12	3	2	0	1	0	1	0	2	3	2	1	3	4	3	3	3	4	1	3			C3N-00175_TP	C3N-00175_NB	G	G																c.2306G>C	p.Arg769Pro	p.R769P	ENST00000367549	20/28	228	158	70	174	174	0	strelka-varscan-mutect	DHX9,missense_variant,p.Arg769Pro,ENST00000367549,NM_001357.4;DHX9,non_coding_transcript_exon_variant,,ENST00000485081,;DHX9,non_coding_transcript_exon_variant,,ENST00000474446,;DHX9,upstream_gene_variant,,ENST00000473076,;DHX9,downstream_gene_variant,,ENST00000490519,;	C	ENST00000367549	Transcript	missense_variant	2416/4240	2306/3813	769/1270	R/P	cGg/cCg	COSM5142087	1		1	DHX9	HGNC	HGNC:2750	protein_coding	YES	CCDS41444.1	ENSP00000356520	Q08211		UPI00001AEF15	NM_001357.4	deleterious(0)		20/28		Gene3D:3.40.50.300,PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF119,SMART_domains:SM00490,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	39	182878128	182878128	G	C	1	0	0	0	0	1	0	0	0	4320	1116	39	4		4	DHX9	1	182878128	Missense_Mutation	SNP	G	C3N-00175_TP	3247324	182878128	66078294	109	10259											
DHX9	0	.	GRCh38	chr1	182887117	182887117	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtcctcccaagatggccCgatacgacaatggaagcgga	12	5	11	13	4	0	1	0	0	0	1	2	5	2	3	3	3	2	0	3	3	4	1			C3N-00175_TP	C3N-00175_NB	C	C																c.3496C>T	p.Arg1166Ter	p.R1166*	ENST00000367549	28/28	223	196	27	175	175	0	strelka-varscan-mutect	DHX9,stop_gained,p.Arg1166Ter,ENST00000367549,NM_001357.4;DHX9,non_coding_transcript_exon_variant,,ENST00000485081,;DHX9,non_coding_transcript_exon_variant,,ENST00000473076,;	T	ENST00000367549	Transcript	stop_gained	3606/4240	3496/3813	1166/1270	R/*	Cga/Tga	COSM3479958	1		1	DHX9	HGNC	HGNC:2750	protein_coding	YES	CCDS41444.1	ENSP00000356520	Q08211		UPI00001AEF15	NM_001357.4			28/28		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF119											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	39	182887117	182887117	C	T	1	0	0	0	0	0	1	0	0	4320	644	23	1		1	DHX9	1	182887117	Nonsense_Mutation	SNP	C	C3N-00175_TP	8989	182887117	66069305	110	10260											
NMNAT2	0	.	GRCh38	chr1	183290184	183290184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgtctgccaggtgtcctGgtagcactcccaagggtcca	6	9	13	13	1	1	0	0	0	1	0	5	0	4	0	4	4	2	2	4	4	2	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.265C>A	p.Gln89Lys	p.Q89K	ENST00000287713	4/11	186	156	30	179	179	0	strelka-varscan-mutect	NMNAT2,missense_variant,p.Gln89Lys,ENST00000287713,NM_015039.3;NMNAT2,missense_variant,p.Gln84Lys,ENST00000294868,NM_170706.3;NMNAT2,non_coding_transcript_exon_variant,,ENST00000473046,;	T	ENST00000287713	Transcript	missense_variant	600/5663	265/924	89/307	Q/K	Cag/Aag		1		-1	NMNAT2	HGNC	HGNC:16789	protein_coding	YES	CCDS1353.1	ENSP00000287713	Q9BZQ4		UPI00000706AB	NM_015039.3	deleterious(0)		4/11		Gene3D:3.40.50.620,Pfam_domain:PF01467,hmmpanther:PTHR12039,hmmpanther:PTHR12039:SF2,Superfamily_domains:SSF52374																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	183290184	183290184	G	T	1	0	0	0	0	1	0	0	0	10538	1357	47	2		2	NMNAT2	1	183290184	Missense_Mutation	SNP	G	C3N-00175_TP	403067	183290184	65666238	111	10261											
HMCN1	0	.	GRCh38	chr1	186128253	186128253	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctactggtattccattgcCcaaattaacatggaccttca	12	12	6	11	0	1	0	1	0	0	0	2	1	2	1	3	2	4	2	3	2	4	6			C3N-00175_TP	C3N-00175_NB	C	C																c.12866C>G	p.Pro4289Arg	p.P4289R	ENST00000271588	83/107	256	210	46	260	260	0	strelka-varscan-mutect	HMCN1,missense_variant,p.Pro4289Arg,ENST00000271588,NM_031935.2;	G	ENST00000271588	Transcript	missense_variant	13095/18208	12866/16908	4289/5635	P/R	cCc/cGc	COSM4913457	1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2	deleterious(0)		83/107		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF678,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	39	186128253	186128253	C	G	1	0	0	0	0	1	0	0	0	7111	623	22	4		4	HMCN1	1	186128253	Missense_Mutation	SNP	C	C3N-00175_TP	2838069	186128253	62828169	112	10262											
HMCN1	0	.	GRCh38	chr1	186172112	186172112	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatggaatgaccaaggcAgaaaatggaacctgtattgg	16	7	11	7	0	0	2	0	1	0	1	0	4	0	4	3	4	1	2	3	4	7	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.15795A>G	p.=	p.A5265A	ENST00000271588	102/107	325	292	33	269	269	0	strelka-varscan-mutect	HMCN1,synonymous_variant,p.=,ENST00000271588,NM_031935.2;HMCN1,synonymous_variant,p.=,ENST00000414277,;GS1-174L6.4,downstream_gene_variant,,ENST00000428391,;HMCN1,non_coding_transcript_exon_variant,,ENST00000475585,;	G	ENST00000271588	Transcript	synonymous_variant	16024/18208	15795/16908	5265/5635	A	gcA/gcG		1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2			102/107		Gene3D:2.10.25.10,Pfam_domain:PF07645,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF678,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	39	186172112	186172112	A	G	1	0	0	0	0	0	0	0	1	7111	175	7	5		5	HMCN1	1	186172112	Silent	SNP	A	C3N-00175_TP	43859	186172112	62784310	113	10263											
PRG4	0	.	GRCh38	chr1	186307061	186307061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagcctgccccaactaccCccaaggagcctgcacccacc	11	3	7	20	0	0	1	0	0	0	1	0	2	0	2	8	1	6	1	8	1	4	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1342C>T	p.Pro448Ser	p.P448S	ENST00000445192	7/13	531	477	54	353	353	0	varscan-mutect	PRG4,missense_variant,p.Pro448Ser,ENST00000445192,NM_005807.4;PRG4,missense_variant,p.Pro407Ser,ENST00000367483,NM_001127708.2;PRG4,missense_variant,p.Pro405Ser,ENST00000635041,NM_001303232.1;PRG4,missense_variant,p.Pro355Ser,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,missense_variant,p.Pro314Ser,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	T	ENST00000445192	Transcript	missense_variant	1387/5044	1342/4215	448/1404	P/S	Ccc/Tcc		1		1	PRG4	HGNC	HGNC:9364	protein_coding	YES	CCDS1369.1	ENSP00000399679	Q92954		UPI0004620CBB	NM_005807.4	tolerated(0.2)		7/13		Low_complexity_(Seg):seg,hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	39	186307061	186307061	C	T	1	0	0	0	0	1	0	0	0	12615	623	22	3		3	PRG4	1	186307061	Missense_Mutation	SNP	C	C3N-00175_TP	134949	186307061	62649361	114	10264											
PRG4	0	.	GRCh38	chr1	186308260	186308260	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctgctccaactactccTgagacacctcctccaaccac	11	7	4	19	0	0	1	0	1	0	1	4	2	4	1	7	0	5	1	7	0	4	1	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.2541T>A	p.=	p.P847P	ENST00000445192	7/13	381	340	41	363	363	0	strelka-varscan-mutect	PRG4,synonymous_variant,p.=,ENST00000445192,NM_005807.4;PRG4,synonymous_variant,p.=,ENST00000367483,NM_001127708.2;PRG4,synonymous_variant,p.=,ENST00000635041,NM_001303232.1;PRG4,synonymous_variant,p.=,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,synonymous_variant,p.=,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	A	ENST00000445192	Transcript	synonymous_variant	2586/5044	2541/4215	847/1404	P	ccT/ccA		1		1	PRG4	HGNC	HGNC:9364	protein_coding	YES	CCDS1369.1	ENSP00000399679	Q92954		UPI0004620CBB	NM_005807.4			7/13		Low_complexity_(Seg):seg																	LOW		SNV	5			1										PASS		.	.												A	2	1	39	186308260	186308260	T	A	1	0	0	0	0	0	0	0	1	12615	1567	55	4		4	PRG4	1	186308260	Silent	SNP	T	C3N-00175_TP	1199	186308260	62648162	115	10265											
TPR	0	.	GRCh38	chr1	186346271	186346271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaacttcaatattcttaCgcacttcttctgtcaccttt	10	16	3	12	2	5	0	2	0	3	0	5	1	5	0	1	0	3	1	1	0	5	7	rs371802543		C3N-00175_TP	C3N-00175_NB	C	C																c.2960G>A	p.Arg987His	p.R987H	ENST00000367478	23/51	67	56	11	81	81	0	strelka-varscan-mutect	TPR,missense_variant,p.Arg987His,ENST00000367478,NM_003292.2;TPR,upstream_gene_variant,,ENST00000481347,;	T	ENST00000367478	Transcript	missense_variant	3257/9708	2960/7092	987/2363	R/H	cGt/cAt	rs371802543,COSM677519	1		-1	TPR	HGNC	HGNC:12017	protein_coding	YES	CCDS41446.1	ENSP00000356448	P12270		UPI000046FCF4	NM_003292.2	tolerated(0.09)		23/51		hmmpanther:PTHR18898											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs371802543	.												T	3	4	39	186346271	186346271	C	T	1	0	0	0	0	1	0	0	0	16897	536	19	1		1	TPR	1	186346271	Missense_Mutation	SNP	C	C3N-00175_TP	38011	186346271	62610151	116	10266											
KCNT2	0	.	GRCh38	chr1	196258293	196258293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagaggttcagtcgctgctGggttattttttcagctgttt	5	18	12	6	1	2	1	2	0	0	1	3	1	2	1	0	2	2	7	0	2	2	7	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.3112C>A	p.Gln1038Lys	p.Q1038K	ENST00000294725	26/28	254	208	46	189	189	0	strelka-varscan-mutect	KCNT2,missense_variant,p.Gln1014Lys,ENST00000367433,NM_001287819.1;KCNT2,missense_variant,p.Gln1038Lys,ENST00000294725,NM_198503.3;KCNT2,missense_variant,p.Gln971Lys,ENST00000609185,NM_001287820.1;KCNT2,3_prime_UTR_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;	T	ENST00000294725	Transcript	missense_variant	4028/4409	3112/3408	1038/1135	Q/K	Cag/Aag		1		-1	KCNT2	HGNC	HGNC:18866	protein_coding	YES	CCDS1384.1	ENSP00000294725	Q6UVM3	A9LNM6	UPI00001E0966	NM_198503.3	deleterious(0.03)		26/28		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	196258293	196258293	G	T	1	0	0	0	0	1	0	0	0	8008	1357	47	2		2	KCNT2	1	196258293	Missense_Mutation	SNP	G	C3N-00175_TP	9912022	196258293	52698129	117	10267											
CFH	0	.	GRCh38	chr1	196747233	196747233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgtaaacggggatatCgtctttcatcacgttctcac	8	15	9	9	3	4	0	3	0	2	0	6	1	4	1	0	2	1	2	0	2	3	5			C3N-00175_TP	C3N-00175_NB	C	C																c.3616C>A	p.Arg1206Ser	p.R1206S	ENST00000367429	22/22	560	509	51	401	400	1	varscan-mutect	CFH,missense_variant,p.Arg1206Ser,ENST00000367429,NM_000186.3;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;	A	ENST00000367429	Transcript	missense_variant	3856/4127	3616/3696	1206/1231	R/S	Cgt/Agt	CM100539,COSM3480828	1		1	CFH	HGNC	HGNC:4883	protein_coding	YES	CCDS1385.1	ENSP00000356399	P08603	A0A024R962	UPI000013C4D1	NM_000186.3	tolerated(0.31)		22/22		Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535											0,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	39	196747233	196747233	C	A	1	0	0	0	0	1	0	0	0	3041	884	31	1		1	CFH	1	196747233	Missense_Mutation	SNP	C	C3N-00175_TP	488940	196747233	52209189	118	10268											
PTPRC	0	.	GRCh38	chr1	198694031	198694031	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaataggccatctgcaagcTgaggagcaaggaagccaatc	15	5	11	10	0	1	1	0	1	1	0	2	3	1	3	2	3	4	3	2	3	6	1	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.114T>A	p.=	p.A38A	ENST00000413409	4/4	126	105	21	139	139	0	strelka-varscan-mutect	PTPRC,synonymous_variant,p.=,ENST00000413409,NM_001267798.1;PTPRC,intron_variant,,ENST00000442510,NM_002838.4;PTPRC,intron_variant,,ENST00000348564,NM_080921.3;PTPRC,intron_variant,,ENST00000367367,;PTPRC,intron_variant,,ENST00000530727,;PTPRC,intron_variant,,ENST00000367379,;PTPRC,intron_variant,,ENST00000418674,;PTPRC,downstream_gene_variant,,ENST00000367364,;PTPRC,intron_variant,,ENST00000391970,;PTPRC,intron_variant,,ENST00000427110,;PTPRC,intron_variant,,ENST00000529828,;PTPRC,intron_variant,,ENST00000462363,;PTPRC,upstream_gene_variant,,ENST00000484135,;	A	ENST00000413409	Transcript	synonymous_variant	198/1338	114/264	38/87	A	gcT/gcA		1		1	PTPRC	HGNC	HGNC:9666	protein_coding		CCDS44291.2	ENSP00000405494		M9MML4	UPI00002046F8	NM_001267798.1			4/4																			LOW		SNV	1			1										PASS		.	.												A	2	1	39	198694031	198694031	T	A	1	0	0	0	0	0	0	0	1	12951	1567	55	4		4	PTPRC	1	198694031	Silent	SNP	T	C3N-00175_TP	1946798	198694031	50262391	119	10269											
KIF21B	0	.	GRCh38	chr1	200992320	200992320	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcttgagctgtgcgatctCccggttcctcttggtctcca	3	15	9	14	2	4	1	0	1	4	0	7	2	5	1	3	2	2	2	3	2	0	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2347G>T	p.Glu783Ter	p.E783*	ENST00000422435	16/35	287	255	32	265	265	0	strelka-varscan-mutect	KIF21B,stop_gained,p.Glu783Ter,ENST00000332129,NM_017596.3;KIF21B,stop_gained,p.Glu783Ter,ENST00000422435,NM_001252100.1;KIF21B,stop_gained,p.Glu783Ter,ENST00000461742,NM_001252102.1;KIF21B,stop_gained,p.Glu783Ter,ENST00000360529,NM_001252103.1;	A	ENST00000422435	Transcript	stop_gained	2664/5519	2347/4914	783/1637	E/*	Gag/Tag		1		-1	KIF21B	HGNC	HGNC:29442	protein_coding	YES	CCDS58056.1	ENSP00000411831	O75037		UPI0000153E7C	NM_001252100.1			16/35		hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	200992320	200992320	C	A	1	0	0	0	0	0	1	0	0	8154	864	30	2		2	KIF21B	1	200992320	Nonsense_Mutation	SNP	C	C3N-00175_TP	2298289	200992320	47964102	120	10270											
IGFN1	0	.	GRCh38	chr1	201222828	201222828	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcccgtctcctttgaaGtgagtgtacctgcaggggtg	5	12	15	9	1	1	2	0	2	1	0	2	2	1	2	3	2	3	2	3	2	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.10290+1G>A		p.X3430_splice	ENST00000335211		121	105	16	105	105	0	strelka-varscan-mutect	IGFN1,splice_donor_variant,,ENST00000335211,NM_001164586.1;IGFN1,splice_donor_variant,,ENST00000295591,;IGFN1,splice_donor_variant,,ENST00000412892,;RP11-567E21.3,non_coding_transcript_exon_variant,,ENST00000453155,;IGFN1,splice_donor_variant,,ENST00000437879,;IGFN1,splice_donor_variant,,ENST00000473483,;	A	ENST00000335211	Transcript	splice_donor_variant	-/11810	10290/11127	3430/3708				1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1				20/23																		HIGH		SNV	5			1										PASS		.	.												A	5	1	39	201222828	201222828	G	A	1	0	0	0	0	0	0	1	0	7497	1043	36	3		3	IGFN1	1	201222828	Splice_Site	SNP	G	C3N-00175_TP	230508	201222828	47733594	121	10271											
LGR6	0	.	GRCh38	chr1	202276402	202276402	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgacaatgcactcacGgagatccctgtcagggccct	9	7	11	14	2	2	1	2	0	0	1	3	4	3	2	2	3	1	1	2	3	1	0	rs375377887		C3N-00175_TP	C3N-00175_NB	G	G																c.525G>T	p.=	p.T175T	ENST00000367278	5/18	223	204	19	194	194	0	strelka-varscan-mutect	LGR6,synonymous_variant,p.=,ENST00000367278,NM_001017403.1;LGR6,synonymous_variant,p.=,ENST00000255432,NM_021636.2;LGR6,synonymous_variant,p.=,ENST00000423542,;LGR6,intron_variant,,ENST00000439764,NM_001017404.1;LGR6,non_coding_transcript_exon_variant,,ENST00000308543,;LGR6,non_coding_transcript_exon_variant,,ENST00000506931,;LGR6,synonymous_variant,p.=,ENST00000487787,;	T	ENST00000367278	Transcript	synonymous_variant	614/3567	525/2904	175/967	T	acG/acT	rs375377887	1		1	LGR6	HGNC	HGNC:19719	protein_coding	YES	CCDS30971.1	ENSP00000356247	Q9HBX8		UPI0000161221	NM_001017403.1			5/18		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF12,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		rs375377887	.												T	2	4	39	202276402	202276402	G	T	1	0	0	0	0	0	0	0	1	8668	1103	39	1		1	LGR6	1	202276402	Silent	SNP	G	C3N-00175_TP	1053574	202276402	46680020	122	10272											
PPFIA4	0	.	GRCh38	chr1	203045891	203045891	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggattactacactggagaaGcgctacctggctgctcagcg	9	8	12	12	3	1	1	1	0	0	1	1	3	1	2	1	3	6	3	1	3	4	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.909G>A	p.=	p.K303K	ENST00000447715	12/35	328	259	69	283	283	0	strelka-varscan-mutect	PPFIA4,synonymous_variant,p.=,ENST00000367240,NM_001304331.1,NM_001304332.1;PPFIA4,synonymous_variant,p.=,ENST00000447715,;PPFIA4,synonymous_variant,p.=,ENST00000600426,;PPFIA4,5_prime_UTR_variant,,ENST00000295706,;PPFIA4,non_coding_transcript_exon_variant,,ENST00000601609,;	A	ENST00000447715	Transcript	synonymous_variant	1350/6349	909/3558	303/1185	K	aaG/aaA		1		1	PPFIA4	HGNC	HGNC:9248	protein_coding	YES		ENSP00000402576	O75335		UPI0001661778				12/35		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF5																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	203045891	203045891	G	A	1	0	0	0	0	0	0	0	1	12421	962	34	3		3	PPFIA4	1	203045891	Silent	SNP	G	C3N-00175_TP	769489	203045891	45910531	123	10273											
ATP2B4	0	.	GRCh38	chr1	203733350	203733350	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtagcagttgcaccagtcaAatcttcccccaccacttctg	9	11	6	15	0	3	0	1	0	2	0	4	0	4	0	4	0	2	4	4	0	2	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.3437A>T	p.Lys1146Ile	p.K1146I	ENST00000367218	21/22	193	134	59	143	143	0	strelka-varscan-mutect	ATP2B4,missense_variant,p.Lys1146Ile,ENST00000367218,NM_001001396.2;ATP2B4,missense_variant,p.Lys1146Ile,ENST00000341360,;ATP2B4,missense_variant,p.Lys111Ile,ENST00000356729,;ATP2B4,intron_variant,,ENST00000357681,NM_001684.4;SNORA77,downstream_gene_variant,,ENST00000408716,;ATP2B4,missense_variant,p.Lys78Ile,ENST00000484746,;	T	ENST00000367218	Transcript	missense_variant	4334/8918	3437/3513	1146/1170	K/I	aAa/aTa		1		1	ATP2B4	HGNC	HGNC:817	protein_coding		CCDS30977.1	ENSP00000356187	P23634		UPI000002A460	NM_001001396.2	tolerated_low_confidence(0.22)		21/22		Pfam_domain:PF12424,Low_complexity_(Seg):seg																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	39	203733350	203733350	A	T	1	0	0	0	0	1	0	0	0	1295	14	1	4		4	ATP2B4	1	203733350	Missense_Mutation	SNP	A	C3N-00175_TP	687459	203733350	45223072	124	10274											
NFASC	0	.	GRCh38	chr1	204975418	204975418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgctctatattggaaacaGgtttctcttcccccttcccc	6	13	6	16	1	2	0	0	0	2	0	5	1	4	1	5	2	1	2	5	2	3	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1706G>T	p.Arg569Met	p.R569M	ENST00000339876	15/30	110	94	16	84	83	1	strelka-varscan-mutect	NFASC,missense_variant,p.Arg569Met,ENST00000339876,NM_001005388.2;NFASC,missense_variant,p.Arg569Met,ENST00000401399,;NFASC,missense_variant,p.Arg580Met,ENST00000539706,NM_001160332.1;NFASC,missense_variant,p.Arg580Met,ENST00000360049,NM_015090.3;NFASC,missense_variant,p.Arg563Met,ENST00000404076,;NFASC,missense_variant,p.Arg580Met,ENST00000404907,;NFASC,missense_variant,p.Arg556Met,ENST00000430393,NM_001160331.1;NFASC,missense_variant,p.Arg539Met,ENST00000367173,;NFASC,missense_variant,p.Arg580Met,ENST00000513543,;NFASC,missense_variant,p.Arg569Met,ENST00000403080,NM_001160333.1,NM_001005389.1;NFASC,splice_region_variant,,ENST00000404977,;NFASC,upstream_gene_variant,,ENST00000471392,;NFASC,splice_region_variant,,ENST00000512826,;NFASC,splice_region_variant,,ENST00000504476,;NFASC,downstream_gene_variant,,ENST00000514644,;	T	ENST00000339876	Transcript	missense_variant,splice_region_variant	2034/10333	1706/3723	569/1240	R/M	aGg/aTg		1		1	NFASC	HGNC	HGNC:29866	protein_coding	YES	CCDS53460.1	ENSP00000344786	O94856		UPI0000237208	NM_001005388.2	deleterious(0)		15/30		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF715,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	204975418	204975418	G	T	1	0	0	0	0	1	0	0	0	10396	1014	35	2		2	NFASC	1	204975418	Missense_Mutation	SNP	G	C3N-00175_TP	1242068	204975418	43981004	125	10275											
CNTN2	0	.	GRCh38	chr1	205061299	205061299	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctccctgtccccgcagtgGaccacagctgagcccaccct	6	6	10	19	1	0	1	0	1	0	0	2	2	2	2	6	2	2	3	6	2	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.852G>A	p.Trp284Ter	p.W284*	ENST00000331830	8/23	207	183	24	153	153	0	strelka-varscan-mutect	CNTN2,stop_gained,p.Trp284Ter,ENST00000331830,NM_005076.3;CNTN2,upstream_gene_variant,,ENST00000636641,;CNTN2,non_coding_transcript_exon_variant,,ENST00000481872,;CNTN2,non_coding_transcript_exon_variant,,ENST00000636809,;CNTN2,non_coding_transcript_exon_variant,,ENST00000530117,;CNTN2,downstream_gene_variant,,ENST00000532366,;CNTN2,upstream_gene_variant,,ENST00000527340,;CNTN2,upstream_gene_variant,,ENST00000530594,;	A	ENST00000331830	Transcript	stop_gained	1209/8214	852/3123	284/1040	W/*	tgG/tgA		1		1	CNTN2	HGNC	HGNC:2172	protein_coding	YES	CCDS1449.1	ENSP00000330633	Q02246	A0A024R9B4	UPI00001266A5	NM_005076.3			8/23		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	205061299	205061299	G	A	1	0	0	0	0	0	1	0	0	3422	1183	41	3		3	CNTN2	1	205061299	Nonsense_Mutation	SNP	G	C3N-00175_TP	85881	205061299	43895123	126	10276											
NUCKS1	0	.	GRCh38	chr1	205723926	205723926	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttaaaatagtttactacCtgctgagtgagaatcatcct	13	14	6	8	0	1	2	1	2	0	1	2	3	2	2	2	0	3	2	2	0	6	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.229G>T	p.Glu77Ter	p.E77*	ENST00000367142	4/7	207	157	50	303	303	0	strelka-varscan-mutect	NUCKS1,stop_gained,p.Glu77Ter,ENST00000367142,NM_022731.4;NUCKS1,upstream_gene_variant,,ENST00000464938,;	A	ENST00000367142	Transcript	stop_gained,splice_region_variant	532/6496	229/732	77/243	E/*	Gag/Tag		1		-1	NUCKS1	HGNC	HGNC:29923	protein_coding	YES	CCDS30987.1	ENSP00000356110	Q9H1E3		UPI000013096A	NM_022731.4			4/7		Low_complexity_(Seg):seg,hmmpanther:PTHR15361																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	205723926	205723926	C	A	1	0	0	0	0	0	1	0	0	10786	695	24	2		2	NUCKS1	1	205723926	Nonsense_Mutation	SNP	C	C3N-00175_TP	662627	205723926	43232496	127	10277											
PM20D1	0	.	GRCh38	chr1	205845400	205845400	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacccagagaatgggggCacctcccagccttcttcagg	9	7	10	15	0	2	1	1	0	1	1	4	2	4	1	5	3	2	1	5	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.414G>T	p.=	p.V138V	ENST00000367136	3/13	517	482	35	468	468	0	strelka-varscan-mutect	PM20D1,synonymous_variant,p.=,ENST00000367136,NM_152491.4;PM20D1,non_coding_transcript_exon_variant,,ENST00000460624,;PM20D1,upstream_gene_variant,,ENST00000461807,;	A	ENST00000367136	Transcript	synonymous_variant	459/2152	414/1509	138/502	V	gtG/gtT		1		-1	PM20D1	HGNC	HGNC:26518	protein_coding	YES	CCDS1460.1	ENSP00000356104	Q6GTS8		UPI00003665FD	NM_152491.4			3/13		hmmpanther:PTHR11014:SF16,hmmpanther:PTHR11014,Pfam_domain:PF01546,Gene3D:3.40.630.10,Superfamily_domains:SSF53187																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	205845400	205845400	C	A	1	0	0	0	0	0	0	0	1	12234	697	25	2		2	PM20D1	1	205845400	Silent	SNP	C	C3N-00175_TP	121474	205845400	43111022	128	10278											
C1orf186	0	.	GRCh38	chr1	206101819	206101819	+	Missense_Mutation	SNP	C	C	A																															agaactaaaaaatgactcccCgctggactatgagaacataa																								rs782598871		C3N-00175_TP	C3N-00175_NB	C	C																c.386C>A	p.Pro129Gln	p.P129Q	ENST00000331555	6/6	345	289	56	281	281	0	strelka-varscan-mutect	C1orf186,missense_variant,p.Pro129Gln,ENST00000331555,NM_001007544.3;C1orf186,missense_variant,p.Pro129Gln,ENST00000582070,;C1orf186,missense_variant,p.Pro129Gln,ENST00000603488,;C1orf186,missense_variant,p.Pro81Gln,ENST00000603378,;C1orf186,downstream_gene_variant,,ENST00000604112,;	A	ENST00000331555	Transcript	missense_variant	1025/1665	386/519	129/172	P/Q	cCg/cAg	rs782598871	1		1	C1orf186	HGNC	HGNC:25341	protein_coding	YES	CCDS73014.1	ENSP00000356093	Q6ZWK4		UPI0000039E60	NM_001007544.3	deleterious(0.03)		6/6		Pfam_domain:PF15763,hmmpanther:PTHR38491,hmmpanther:PTHR38491:SF1																	MODERATE	1	SNV	1			1										PASS		rs782598871	.												A	3	1	39	206101819	206101819	C	A	1	0	0	0	0	1	0	0	0	1976	652	23	1		1	C1orf186	1	206101819	Missense_Mutation	SNP	C	C3N-00175_TP	256419	206101819	42854603	129	10279	236	2									
C1orf186	0	.	GRCh38	chr1	206101821	206101821	+	Missense_Mutation	SNP	C	C	G																															aactaaaaaatgactccccgCtggactatgagaacataaag																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.388C>G	p.Leu130Val	p.L130V	ENST00000331555	6/6	357	298	59	281	281	0	strelka-varscan-mutect	C1orf186,missense_variant,p.Leu130Val,ENST00000331555,NM_001007544.3;C1orf186,missense_variant,p.Leu130Val,ENST00000582070,;C1orf186,missense_variant,p.Leu130Val,ENST00000603488,;C1orf186,missense_variant,p.Leu82Val,ENST00000603378,;C1orf186,downstream_gene_variant,,ENST00000604112,;	G	ENST00000331555	Transcript	missense_variant	1027/1665	388/519	130/172	L/V	Ctg/Gtg		1		1	C1orf186	HGNC	HGNC:25341	protein_coding	YES	CCDS73014.1	ENSP00000356093	Q6ZWK4		UPI0000039E60	NM_001007544.3	tolerated(0.16)		6/6		Pfam_domain:PF15763,hmmpanther:PTHR38491,hmmpanther:PTHR38491:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	206101821	206101821	C	G	1	0	0	0	0	1	0	0	0	1976	796	28	4		4	C1orf186	1	206101821	Missense_Mutation	SNP	C	C3N-00175_TP	2	206101821	42854601	130	10280	236	2									
PIGR	0	.	GRCh38	chr1	206937098	206937098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctctagggtcttaccctCattgacgaagagttgccagg	8	11	10	12	1	3	2	1	1	2	1	4	3	3	2	3	2	2	1	3	2	3	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1042G>A	p.Glu348Lys	p.E348K	ENST00000356495	4/11	41	36	5	39	39	0	strelka-varscan-mutect	PIGR,missense_variant,p.Glu348Lys,ENST00000356495,NM_002644.3;PIGR,downstream_gene_variant,,ENST00000491503,;	T	ENST00000356495	Transcript	missense_variant	1226/4279	1042/2295	348/764	E/K	Gag/Aag		1		-1	PIGR	HGNC	HGNC:8968	protein_coding	YES	CCDS1474.1	ENSP00000348888	P01833		UPI000007407E	NM_002644.3	deleterious(0.04)		4/11		hmmpanther:PTHR11860:SF55,hmmpanther:PTHR11860,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs930970171	.												T	3	4	39	206937098	206937098	C	T	1	0	0	0	0	1	0	0	0	11991	840	29	3		3	PIGR	1	206937098	Missense_Mutation	SNP	C	C3N-00175_TP	835277	206937098	42019324	131	10281											
CR1L	0	.	GRCh38	chr1	207717475	207717475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctttctagaaatcttttgtCcaaatcctccagctatcctt	9	17	3	12	0	3	1	0	0	3	1	7	1	7	1	4	0	1	1	4	0	4	6	rs374201673		C3N-00175_TP	C3N-00175_NB	C	C																c.1426C>G	p.Pro476Ala	p.P476A	ENST00000508064	11/12	157	113	44	129	129	0	varscan-mutect	CR1L,missense_variant,p.Pro476Ala,ENST00000508064,NM_175710.1;CR1L,3_prime_UTR_variant,,ENST00000294997,;	G	ENST00000508064	Transcript	missense_variant	1486/1788	1426/1710	476/569	P/A	Cca/Gca	rs374201673	1		1	CR1L	HGNC	HGNC:2335	protein_coding	YES	CCDS44310.1	ENSP00000421736	Q2VPA4		UPI0000DD792A	NM_175710.1	tolerated(0.37)		11/12		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF354,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535																	MODERATE	1	SNV	2			1										PASS		rs374201673	.												G	3	3	39	207717475	207717475	C	G	1	0	0	0	0	1	0	0	0	3639	855	30	4		4	CR1L	1	207717475	Missense_Mutation	SNP	C	C3N-00175_TP	780377	207717475	41238947	132	10282											
PLXNA2	0	.	GRCh38	chr1	208096793	208096793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagatgacctggctccCggacacctgcccctccacct	7	7	9	18	1	0	2	0	1	0	1	2	4	2	3	7	2	2	2	7	2	0	0	rs753515319		C3N-00175_TP	C3N-00175_NB	C	C																c.1822G>T	p.Gly608Trp	p.G608W	ENST00000367033	7/32	309	223	86	287	286	1	strelka-varscan-mutect	PLXNA2,missense_variant,p.Gly608Trp,ENST00000367033,NM_025179.3;	A	ENST00000367033	Transcript	missense_variant	2580/11444	1822/5685	608/1894	G/W	Ggg/Tgg	rs753515319	1		-1	PLXNA2	HGNC	HGNC:9100	protein_coding	YES	CCDS31013.1	ENSP00000356000	O75051		UPI000022B239	NM_025179.3	deleterious(0.02)		7/32		hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625																	MODERATE	1	SNV	1			1										PASS		rs753515319	.												A	3	1	39	208096793	208096793	C	A	1	0	0	0	0	1	0	0	0	12226	652	23	1		1	PLXNA2	1	208096793	Missense_Mutation	SNP	C	C3N-00175_TP	379318	208096793	40859629	133	10283											
NEK2	0	.	GRCh38	chr1	211670379	211670379	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgattttcccagcgagttCtttctggctaaaagctgtaa	9	15	8	9	1	3	1	0	1	3	0	4	2	4	1	1	1	2	4	1	1	3	6			C3N-00175_TP	C3N-00175_NB	C	C																c.667G>T	p.Glu223Ter	p.E223*	ENST00000366999	5/8	167	149	18	155	155	0	strelka-varscan-mutect	NEK2,stop_gained,p.Glu223Ter,ENST00000366999,NM_002497.3;NEK2,stop_gained,p.Glu223Ter,ENST00000366998,NM_001204183.1;NEK2,stop_gained,p.Glu223Ter,ENST00000540251,NM_001204182.1;NEK2,non_coding_transcript_exon_variant,,ENST00000462283,;NEK2,upstream_gene_variant,,ENST00000489633,;	A	ENST00000366999	Transcript	stop_gained	806/2131	667/1338	223/445	E/*	Gaa/Taa	COSM1584009,COSM4870369,COSM903495	1		-1	NEK2	HGNC	HGNC:7745	protein_coding	YES	CCDS1500.1	ENSP00000355966	P51955		UPI000012FF27	NM_002497.3			5/8		PROSITE_profiles:PS50011,hmmpanther:PTHR24362:SF278,hmmpanther:PTHR24362,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112											1,1,1						HIGH	1	SNV	1		1,1,1	1										PASS		.	.												A	4	1	39	211670379	211670379	C	A	1	0	0	0	0	0	1	0	0	10352	922	32	2		2	NEK2	1	211670379	Nonsense_Mutation	SNP	C	C3N-00175_TP	3573586	211670379	37286043	134	10284											
PROX1	0	.	GRCh38	chr1	213997088	213997088	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcccccagtgtggcattaAggggcaatgaaaatgaaaga	15	8	11	7	0	0	3	0	2	0	1	1	3	1	3	2	3	0	2	2	3	5	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.553A>T	p.Arg185Trp	p.R185W	ENST00000366958	2/5	105	99	6	95	95	0	strelka-varscan-mutect	PROX1,missense_variant,p.Arg185Trp,ENST00000498508,;PROX1,missense_variant,p.Arg185Trp,ENST00000366958,NM_001270616.1;PROX1,missense_variant,p.Arg185Trp,ENST00000261454,;PROX1,missense_variant,p.Arg185Trp,ENST00000435016,NM_002763.4;PROX1,missense_variant,p.Arg185Trp,ENST00000471129,;PROX1,downstream_gene_variant,,ENST00000607425,;	T	ENST00000366958	Transcript	missense_variant	1161/8240	553/2214	185/737	R/W	Agg/Tgg		1		1	PROX1	HGNC	HGNC:9459	protein_coding	YES	CCDS31021.1	ENSP00000355925	Q92786		UPI0000071D14	NM_001270616.1	tolerated(0.19)		2/5		hmmpanther:PTHR12198																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	213997088	213997088	A	T	1	0	0	0	0	1	0	0	0	12696	63	3	4		4	PROX1	1	213997088	Missense_Mutation	SNP	A	C3N-00175_TP	2326709	213997088	34959334	135	10285											
PTPN14	0	.	GRCh38	chr1	214451920	214451920	+	Frame_Shift_Del	DEL	C	C	-																															cttcagaggtttctccagctCcacccatcgtgcttgctggc																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.229delG	p.Glu77SerfsTer6	p.E77Sfs*6	ENST00000366956	3/19	171	154	17	150	150	0	sindel-varindel-pindel	PTPN14,frameshift_variant,p.Glu77SerfsTer6,ENST00000366956,NM_005401.4;PTPN14,frameshift_variant,p.Glu77SerfsTer6,ENST00000543945,;	-	ENST00000366956	Transcript	frameshift_variant	424/12985	229/3564	77/1187	E/X	Gag/ag		1		-1	PTPN14	HGNC	HGNC:9647	protein_coding	YES	CCDS1514.1	ENSP00000355923	Q15678		UPI000013DCA6	NM_005401.4			3/19		PROSITE_profiles:PS50057,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77,PROSITE_patterns:PS00660,Gene3D:3.10.20.90,Pfam_domain:PF09379,PIRSF_domain:PIRSF000934,SMART_domains:SM00295,Superfamily_domains:SSF54236																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	39	214451920	214451920	C	-	1	0	1	0	1	0	0	0	0	12936	864	30	0		0	PTPN14	1	214451920	Frame_Shift_Del	DEL	C	C3N-00175_TP	454832	214451920	34504502	136	10286											
USH2A	0	.	GRCh38	chr1	215640724	215640724	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccaccgaaaatggggctcgGtactgaggcactgtggggag	9	7	16	9	2	0	1	0	1	0	0	2	3	1	2	2	6	1	3	2	6	3	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.14802C>A	p.Tyr4934Ter	p.Y4934*	ENST00000307340	68/72	454	404	50	376	376	0	strelka-varscan-mutect	USH2A,stop_gained,p.Tyr4934Ter,ENST00000307340,NM_206933.2;	T	ENST00000307340	Transcript	stop_gained	15189/18883	14802/15609	4934/5202	Y/*	taC/taA		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			68/72																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	39	215640724	215640724	G	T	1	0	0	0	0	0	1	0	0	17570	1256	44	2		2	USH2A	1	215640724	Nonsense_Mutation	SNP	G	C3N-00175_TP	1188804	215640724	33315698	137	10287											
USH2A	0	.	GRCh38	chr1	215650743	215650743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccttctggtggggctggcCcggttctgcaccatgtccag	4	10	14	13	1	2	0	0	0	2	0	3	1	3	0	4	5	1	3	4	5	0	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.14192G>A	p.Gly4731Glu	p.G4731E	ENST00000307340	65/72	308	279	29	240	240	0	strelka-varscan-mutect	USH2A,missense_variant,p.Gly4731Glu,ENST00000307340,NM_206933.2;	T	ENST00000307340	Transcript	missense_variant	14579/18883	14192/15609	4731/5202	G/E	gGg/gAg		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0.02)		65/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	215650743	215650743	C	T	1	0	0	0	0	1	0	0	0	17570	623	22	3		3	USH2A	1	215650743	Missense_Mutation	SNP	C	C3N-00175_TP	10019	215650743	33305679	138	10288											
USH2A	0	.	GRCh38	chr1	215728043	215728043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttaccttcactgtgaaaGcatgcacggtagggctgtta	9	12	11	9	1	2	1	1	1	1	0	2	1	2	1	1	2	3	5	1	2	4	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.12053C>T	p.Ala4018Val	p.A4018V	ENST00000307340	61/72	301	234	67	303	302	1	strelka-varscan-mutect	USH2A,missense_variant,p.Ala4018Val,ENST00000307340,NM_206933.2;	A	ENST00000307340	Transcript	missense_variant	12440/18883	12053/15609	4018/5202	A/V	gCt/gTt		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(0.07)		61/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	215728043	215728043	G	A	1	0	0	0	0	1	0	0	0	17570	971	34	3		3	USH2A	1	215728043	Missense_Mutation	SNP	G	C3N-00175_TP	77300	215728043	33228379	139	10289											
USH2A	0	.	GRCh38	chr1	215999025	215999025	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatataatacatagcgttcCagaatcccacttatttttct	13	16	3	9	1	1	1	0	0	1	1	3	1	3	1	2	0	2	1	2	0	7	9	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.6519G>A	p.=	p.L2173L	ENST00000307340	34/72	81	61	20	114	114	0	strelka-varscan-mutect	USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;	T	ENST00000307340	Transcript	synonymous_variant	6906/18883	6519/15609	2173/5202	L	ctG/ctA		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			34/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	215999025	215999025	C	T	1	0	0	0	0	0	0	0	1	17570	581	21	3		3	USH2A	1	215999025	Silent	SNP	C	C3N-00175_TP	270982	215999025	32957397	140	10290											
USH2A	0	.	GRCh38	chr1	216078289	216078289	+	Missense_Mutation	SNP	A	A	C																															cattacaataggatagccccAgcaatagatccacttgtgta																								novel		C3N-00175_TP	C3N-00175_NB	A	A																c.5372T>G	p.Leu1791Arg	p.L1791R	ENST00000307340	27/72	267	242	25	268	268	0	strelka-varscan-mutect	USH2A,missense_variant,p.Leu1791Arg,ENST00000307340,NM_206933.2;RP11-22M7.2,intron_variant,,ENST00000446411,;RP11-22M7.2,intron_variant,,ENST00000430890,;RP11-22M7.2,intron_variant,,ENST00000445619,;RP11-22M7.2,upstream_gene_variant,,ENST00000442606,;	C	ENST00000307340	Transcript	missense_variant	5759/18883	5372/15609	1791/5202	L/R	cTg/cGg		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		27/72		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	216078289	216078289	A	C	1	0	0	0	0	1	0	0	0	17570	188	7	5		5	USH2A	1	216078289	Missense_Mutation	SNP	A	C3N-00175_TP	79264	216078289	32878133	141	10291	237	2									
USH2A	0	.	GRCh38	chr1	216078290	216078290	+	Missense_Mutation	SNP	G	G	C																															attacaataggatagccccaGcaatagatccacttgtgtaa																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.5371C>G	p.Leu1791Val	p.L1791V	ENST00000307340	27/72	267	244	23	265	264	1	strelka-varscan-mutect	USH2A,missense_variant,p.Leu1791Val,ENST00000307340,NM_206933.2;RP11-22M7.2,intron_variant,,ENST00000446411,;RP11-22M7.2,intron_variant,,ENST00000430890,;RP11-22M7.2,intron_variant,,ENST00000445619,;RP11-22M7.2,upstream_gene_variant,,ENST00000442606,;	C	ENST00000307340	Transcript	missense_variant	5758/18883	5371/15609	1791/5202	L/V	Ctg/Gtg		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(0.4)		27/72		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	216078290	216078290	G	C	1	0	0	0	0	1	0	0	0	17570	962	34	4		4	USH2A	1	216078290	Missense_Mutation	SNP	G	C3N-00175_TP	1	216078290	32878132	142	10292	237	2									
USH2A	0	.	GRCh38	chr1	216207327	216207327	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccatccctgagtaaacTgtaagtaagccagtgggcat	15	8	9	9	0	0	1	0	1	0	0	1	1	1	1	3	1	3	4	3	1	6	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.3262A>C	p.Ser1088Arg	p.S1088R	ENST00000307340	16/72	344	272	72	293	293	0	strelka-varscan-mutect	USH2A,missense_variant,p.Ser1088Arg,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Ser1088Arg,ENST00000366942,NM_007123.5;RP5-1099E6.3,downstream_gene_variant,,ENST00000420867,;	G	ENST00000307340	Transcript	missense_variant	3649/18883	3262/15609	1088/5202	S/R	Agt/Cgt		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(0.72)		16/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	216207327	216207327	T	G	1	0	0	0	0	1	0	0	0	17570	1580	55	5		5	USH2A	1	216207327	Missense_Mutation	SNP	T	C3N-00175_TP	129037	216207327	32749095	143	10293											
SPATA17	0	.	GRCh38	chr1	217742014	217742014	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagaaatgaaagaaagagaAgagaagaaggctaacctcga	21	3	12	5	1	0	6	0	1	0	5	1	9	0	6	1	1	1	2	1	1	7	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.435A>G	p.=	p.E145E	ENST00000366933	6/11	188	174	14	161	160	1	strelka-varscan-mutect	SPATA17,synonymous_variant,p.=,ENST00000366933,NM_138796.3;SPATA17,non_coding_transcript_exon_variant,,ENST00000492747,;SPATA17,3_prime_UTR_variant,,ENST00000470448,;	G	ENST00000366933	Transcript	synonymous_variant	490/5818	435/1086	145/361	E	gaA/gaG		1		1	SPATA17	HGNC	HGNC:25184	protein_coding	YES	CCDS1519.1	ENSP00000355900	Q96L03		UPI00000717C2	NM_138796.3			6/11		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22706,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	39	217742014	217742014	A	G	1	0	0	0	0	0	0	0	1	15332	69	3	5		5	SPATA17	1	217742014	Silent	SNP	A	C3N-00175_TP	1534687	217742014	31214408	144	10294											
ZC3H11B	0	.	GRCh38	chr1	219611275	219611275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggtggagagagttactGtcctcaccacagtcctgaca	9	11	11	10	0	1	2	1	1	0	1	3	4	3	3	3	2	1	2	3	2	1	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.788C>A	p.Thr263Lys	p.T263K	ENST00000636126	2/2	128	114	14	82	82	0	varscan-mutect	ZC3H11B,missense_variant,p.Thr263Lys,ENST00000636126,;ZC3H11B,missense_variant,p.Thr263Lys,ENST00000367211,;	T	ENST00000636126	Transcript	missense_variant	1504/4432	788/2418	263/805	T/K	aCa/aAa		1		-1	ZC3H11B	HGNC	HGNC:25659	protein_coding	YES		ENSP00000489836			UPI000013E86C		deleterious(0)		2/2		hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	39	219611275	219611275	G	T	1	0	0	0	0	1	0	0	0	18135	1377	48	2		2	ZC3H11B	1	219611275	Missense_Mutation	SNP	G	C3N-00175_TP	1869261	219611275	29345147	145	10295											
SLC30A10	0	.	GRCh38	chr1	219915788	219915788	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtcacattgtggattccCgcatggtggaagatttctcg	8	13	12	8	2	2	1	1	0	1	1	4	3	3	3	1	4	0	1	1	4	1	3	rs200960383		C3N-00175_TP	C3N-00175_NB	C	C																c.1119G>T	p.=	p.A373A	ENST00000366926	4/4	535	485	50	454	454	0	strelka-varscan-mutect	SLC30A10,synonymous_variant,p.=,ENST00000366926,NM_018713.2;SLC30A10,non_coding_transcript_exon_variant,,ENST00000484079,;SLC30A10,intron_variant,,ENST00000484239,;SLC30A10,3_prime_UTR_variant,,ENST00000356609,;	A	ENST00000366926	Transcript	synonymous_variant	1281/1915	1119/1458	373/485	A	gcG/gcT	rs200960383	1		-1	SLC30A10	HGNC	HGNC:25355	protein_coding	YES	CCDS31026.1	ENSP00000355893	Q6XR72		UPI000040E993	NM_018713.2			4/4		hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF14,TIGRFAM_domain:TIGR01297																	LOW	1	SNV	1			1										PASS		rs200960383	.												A	2	1	39	219915788	219915788	C	A	1	0	0	0	0	0	0	0	1	14824	639	23	1		1	SLC30A10	1	219915788	Silent	SNP	C	C3N-00175_TP	304513	219915788	29040634	146	10296											
MARK1	0	.	GRCh38	chr1	220579557	220579557	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgttctaactggtagagaGgtaagtttgcacaatgcctt	11	12	10	8	1	1	1	0	0	1	1	1	2	1	1	1	2	3	5	1	2	4	6	rs758475266		C3N-00175_TP	C3N-00175_NB	G	G																c.255G>C	p.Glu85Asp	p.E85D	ENST00000611084	2/18	123	109	14	102	102	0	strelka-varscan-mutect	MARK1,missense_variant,p.Glu85Asp,ENST00000611084,NM_001286124.1;MARK1,missense_variant,p.Glu85Asp,ENST00000402574,NM_001286126.1;MARK1,missense_variant,p.Glu85Asp,ENST00000366918,NM_001286128.1;MARK1,missense_variant,p.Glu85Asp,ENST00000366917,NM_018650.4;MARK1,downstream_gene_variant,,ENST00000485104,;	C	ENST00000611084	Transcript	missense_variant,splice_region_variant	895/5321	255/2391	85/796	E/D	gaG/gaC	rs758475266	1		1	MARK1	HGNC	HGNC:6896	protein_coding	YES	CCDS73033.1	ENSP00000483424		A0A087X0I6	UPI0000E592B1	NM_001286124.1	deleterious(0)		2/18		PROSITE_profiles:PS50011,hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF21,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs758475266	.												C	3	2	39	220579557	220579557	G	C	1	0	0	0	0	1	0	0	0	9237	1014	35	4		4	MARK1	1	220579557	Missense_Mutation	SNP	G	C3N-00175_TP	663769	220579557	28376865	147	10297											
MARK1	0	.	GRCh38	chr1	220618709	220618709	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagactgtgaaaatcttcTgaagaaattattagtcctga	15	12	7	7	0	2	5	0	3	2	2	3	5	3	5	1	0	0	0	1	0	6	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.863T>A	p.Leu288Gln	p.L288Q	ENST00000611084	9/18	165	147	18	127	127	0	strelka-mutect	MARK1,missense_variant,p.Leu288Gln,ENST00000611084,NM_001286124.1;MARK1,missense_variant,p.Leu288Gln,ENST00000402574,NM_001286126.1;MARK1,missense_variant,p.Leu266Gln,ENST00000366918,NM_001286128.1;MARK1,missense_variant,p.Leu288Gln,ENST00000366917,NM_018650.4;	A	ENST00000611084	Transcript	missense_variant	1503/5321	863/2391	288/796	L/Q	cTg/cAg		1		1	MARK1	HGNC	HGNC:6896	protein_coding	YES	CCDS73033.1	ENSP00000483424		A0A087X0I6	UPI0000E592B1	NM_001286124.1	deleterious(0)		9/18		PROSITE_profiles:PS50011,hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF21,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	220618709	220618709	T	A	1	0	0	0	0	1	0	0	0	9237	1580	55	4		4	MARK1	1	220618709	Missense_Mutation	SNP	T	C3N-00175_TP	39152	220618709	28337713	148	10298											
MIA3	0	.	GRCh38	chr1	222621262	222621262	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttactataaactggcAagaggatggcctgaagtttg	12	13	11	5	0	0	2	0	1	0	1	0	3	0	3	1	3	2	3	1	3	7	6			C3N-00175_TP	C3N-00175_NB	A	A																c.237A>T	p.=	p.A79A	ENST00000344922	2/28	134	116	18	113	113	0	strelka-varscan-mutect	MIA3,synonymous_variant,p.=,ENST00000344922,NM_001324064.1,NM_198551.3;MIA3,synonymous_variant,p.=,ENST00000344507,;MIA3,non_coding_transcript_exon_variant,,ENST00000470521,;	T	ENST00000344922	Transcript	synonymous_variant	262/8142	237/5724	79/1907	A	gcA/gcT	COSM5663156	1		1	MIA3	HGNC	HGNC:24008	protein_coding	YES	CCDS41470.1	ENSP00000340900	Q5JRA6		UPI00001D75B3	NM_001324064.1,NM_198551.3			2/28		hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF37,Pfam_domain:PF07653,Gene3D:2.30.30.40,Superfamily_domains:SSF50044											1						LOW	1	SNV	5		1	1										PASS		.	.												T	2	4	39	222621262	222621262	A	T	1	0	0	0	0	0	0	0	1	9522	117	5	4		4	MIA3	1	222621262	Silent	SNP	A	C3N-00175_TP	2002553	222621262	26335160	149	10299											
FBXO28	0	.	GRCh38	chr1	224157659	224157659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcctcagggtccgggcaGaatgaggagtctcctcggaa	10	8	13	10	2	2	2	1	1	1	1	6	4	4	4	3	4	0	1	3	4	3	1	rs202148144		C3N-00175_TP	C3N-00175_NB	G	G																c.1020G>T	p.Gln340His	p.Q340H	ENST00000366862	5/5	235	177	58	192	192	0	strelka-varscan-mutect	FBXO28,missense_variant,p.Gln340His,ENST00000366862,NM_015176.3;FBXO28,3_prime_UTR_variant,,ENST00000424254,NM_001136115.2;FBXO28,3_prime_UTR_variant,,ENST00000523990,;	T	ENST00000366862	Transcript	missense_variant	1063/5451	1020/1107	340/368	Q/H	caG/caT	rs202148144	1		1	FBXO28	HGNC	HGNC:29046	protein_coding	YES	CCDS1539.1	ENSP00000355827	Q9NVF7	A0A024R3Q6	UPI000006F1C1	NM_015176.3	tolerated(0.1)		5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR13252																	MODERATE	1	SNV	1			1										PASS		rs202148144	.												T	3	4	39	224157659	224157659	G	T	1	0	0	0	0	1	0	0	0	5601	933	33	2		2	FBXO28	1	224157659	Missense_Mutation	SNP	G	C3N-00175_TP	1536397	224157659	24798763	150	10300											
WDR26	0	.	GRCh38	chr1	224418413	224418413	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatcactgatggtggtaaaTaggctttaatagaagatatt	14	13	10	4	0	1	3	1	1	0	2	1	3	1	3	0	3	0	3	0	3	7	7			C3N-00175_TP	C3N-00175_NB	T	T																c.866A>G	p.Tyr289Cys	p.Y289C	ENST00000414423	6/14	141	123	18	119	119	0	strelka-varscan-mutect	WDR26,missense_variant,p.Tyr289Cys,ENST00000414423,NM_025160.6,NM_001115113.2;WDR26,downstream_gene_variant,,ENST00000445239,;WDR26,downstream_gene_variant,,ENST00000477425,;WDR26,3_prime_UTR_variant,,ENST00000486652,;WDR26,non_coding_transcript_exon_variant,,ENST00000443112,;WDR26,downstream_gene_variant,,ENST00000489825,;	C	ENST00000414423	Transcript	missense_variant	1060/6872	866/1986	289/661	Y/C	tAt/tGt	COSM316519,COSM316520	1		-1	WDR26	HGNC	HGNC:21208	protein_coding	YES	CCDS31037.2	ENSP00000408108	Q9H7D7		UPI0000203FB7	NM_025160.6,NM_001115113.2	deleterious(0)		6/14		hmmpanther:PTHR22838,hmmpanther:PTHR22838:SF0											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	39	224418413	224418413	T	C	1	0	0	0	0	1	0	0	0	17843	1420	49	5		5	WDR26	1	224418413	Missense_Mutation	SNP	T	C3N-00175_TP	260754	224418413	24538009	151	10301											
LIN9	0	.	GRCh38	chr1	226250915	226250915	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgagaatttttgataatCtggtctacagacaaagaaga	16	12	8	5	0	3	5	1	2	2	4	3	6	3	5	0	1	1	0	0	1	5	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1091G>T	p.Arg364Ile	p.R364I	ENST00000328205	11/15	42	31	11	83	83	0	strelka-varscan-mutect	LIN9,missense_variant,p.Arg364Ile,ENST00000328205,NM_173083.3;LIN9,missense_variant,p.Arg419Ile,ENST00000366808,NM_001270410.1;LIN9,missense_variant,p.Arg324Ile,ENST00000460719,NM_001270409.1;LIN9,missense_variant,p.Arg329Ile,ENST00000481685,;	A	ENST00000328205	Transcript	missense_variant	1637/3567	1091/1677	364/558	R/I	aGa/aTa		1		-1	LIN9	HGNC	HGNC:30830	protein_coding	YES	CCDS1553.1	ENSP00000329102	Q5TKA1		UPI00001B2F3C	NM_173083.3	deleterious(0)		11/15		hmmpanther:PTHR21689																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	226250915	226250915	C	A	1	0	0	0	0	1	0	0	0	8721	927	32	2		2	LIN9	1	226250915	Missense_Mutation	SNP	C	C3N-00175_TP	1832502	226250915	22705507	152	10302											
PARP1	0	.	GRCh38	chr1	226365142	226365142	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcattcgccttcacgctCtatcttaaagatctggttgg	7	14	9	11	2	4	1	1	0	3	1	5	1	4	1	1	3	0	3	1	3	3	5	rs772996633		C3N-00175_TP	C3N-00175_NB	C	C																c.2518G>T	p.Glu840Ter	p.E840*	ENST00000366794	19/23	576	530	46	431	431	0	strelka-varscan-mutect	PARP1,stop_gained,p.Glu840Ter,ENST00000366794,NM_001618.3;PARP1,non_coding_transcript_exon_variant,,ENST00000490921,;PARP1,non_coding_transcript_exon_variant,,ENST00000498787,;PARP1,upstream_gene_variant,,ENST00000463968,;PARP1,upstream_gene_variant,,ENST00000468608,;PARP1,upstream_gene_variant,,ENST00000491816,;	A	ENST00000366794	Transcript	stop_gained	2662/3958	2518/3045	840/1014	E/*	Gag/Tag	rs772996633	1		-1	PARP1	HGNC	HGNC:270	protein_coding	YES	CCDS1554.1	ENSP00000355759	P09874	A0A024R3T8	UPI000013D92D	NM_001618.3			19/23		PROSITE_profiles:PS51059,hmmpanther:PTHR10459,hmmpanther:PTHR10459:SF62,PIRSF_domain:PIRSF000489,Gene3D:3.90.228.10,Pfam_domain:PF00644,Superfamily_domains:SSF56399																	HIGH	1	SNV	1			1										PASS		rs772996633	.												A	4	1	39	226365142	226365142	C	A	1	0	0	0	0	0	1	0	0	11534	922	32	2		2	PARP1	1	226365142	Nonsense_Mutation	SNP	C	C3N-00175_TP	114227	226365142	22591280	153	10303											
OBSCN	0	.	GRCh38	chr1	228217154	228217154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcatggagctgggccactCcggtgagcgcttcttgcagg	5	9	16	11	2	1	1	0	1	1	0	2	2	2	2	2	5	3	4	2	5	0	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2519C>A	p.Ser840Tyr	p.S840Y	ENST00000570156	8/116	385	315	70	359	358	1	strelka-varscan-mutect	OBSCN,missense_variant,p.Ser840Tyr,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Ser840Tyr,ENST00000366707,;OBSCN,missense_variant,p.Ser840Tyr,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Ser840Tyr,ENST00000636875,;OBSCN,missense_variant,p.Ser840Tyr,ENST00000284548,NM_052843.3;C1orf145,upstream_gene_variant,,ENST00000295012,;OBSCN,non_coding_transcript_exon_variant,,ENST00000493977,;C1orf145,upstream_gene_variant,,ENST00000337335,;C1orf145,upstream_gene_variant,,ENST00000472613,;	A	ENST00000570156	Transcript	missense_variant	2593/26925	2519/26772	840/8923	S/Y	tCc/tAc		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	deleterious(0.01)		8/116		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	39	228217154	228217154	C	A	1	0	0	0	0	1	0	0	0	10889	855	30	2		2	OBSCN	1	228217154	Missense_Mutation	SNP	C	C3N-00175_TP	1852012	228217154	20739268	154	10304											
ACTA1	0	.	GRCh38	chr1	229431636	229431636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttgcgctccggcggggCgatgatctgcaagacagcgc	7	8	15	11	5	1	2	0	1	1	1	2	3	2	2	1	3	3	3	1	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.997G>A	p.Ala333Thr	p.A333T	ENST00000366684	7/7	218	207	11	274	274	0	strelka-varscan-mutect	ACTA1,missense_variant,p.Ala333Thr,ENST00000366684,NM_001100.3;ACTA1,missense_variant,p.Ala210Thr,ENST00000366683,;	T	ENST00000366684	Transcript	missense_variant	1100/1491	997/1134	333/377	A/T	Gcc/Acc		1		-1	ACTA1	HGNC	HGNC:129	protein_coding	YES	CCDS1578.1	ENSP00000355645	P68133		UPI0000000860	NM_001100.3	deleterious_low_confidence(0.03)		7/7		Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF193,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	229431636	229431636	C	T	1	0	0	0	0	1	0	0	0	234	768	27	1		1	ACTA1	1	229431636	Missense_Mutation	SNP	C	C3N-00175_TP	1214482	229431636	19524786	155	10305											
TAF5L	0	.	GRCh38	chr1	229594378	229594378	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcacgctcaggacgttgctCatctgcccggtgtacacgcc	6	9	11	15	4	3	0	2	0	1	0	3	1	3	1	2	2	4	5	2	2	1	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1689G>C	p.Met563Ile	p.M563I	ENST00000258281	5/5	318	285	33	275	275	0	strelka-varscan-mutect	TAF5L,missense_variant,p.Met563Ile,ENST00000258281,NM_014409.3;TAF5L,missense_variant,p.Met563Ile,ENST00000366676,;TAF5L,downstream_gene_variant,,ENST00000366675,NM_001025247.1;	G	ENST00000258281	Transcript	missense_variant	1855/3112	1689/1770	563/589	M/I	atG/atC		1		-1	TAF5L	HGNC	HGNC:17304	protein_coding	YES	CCDS1581.1	ENSP00000258281	O75529		UPI0000073E93	NM_014409.3	deleterious(0.04)		5/5		hmmpanther:PTHR19879,hmmpanther:PTHR19879:SF6,Superfamily_domains:SSF50978																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	39	229594378	229594378	C	G	1	0	0	0	0	1	0	0	0	15925	826	29	4		4	TAF5L	1	229594378	Missense_Mutation	SNP	C	C3N-00175_TP	162742	229594378	19362044	156	10306											
PCNX2	0	.	GRCh38	chr1	233177849	233177849	+	Frame_Shift_Del	DEL	C	C	-																															agggtcagcagctgactctgCcagattttgatgtaaaaatt																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3226delG	p.Ala1076GlnfsTer12	p.A1076Qfs*12	ENST00000258229	17/34	145	103	42	157	157	0	sindel-varindel-pindel	PCNX2,frameshift_variant,p.Ala1076GlnfsTer12,ENST00000258229,NM_014801.3;PCNX2,frameshift_variant,p.Ala209GlnfsTer12,ENST00000430153,;PCNX2,frameshift_variant,p.Ala209GlnfsTer12,ENST00000488780,;PCNX2,non_coding_transcript_exon_variant,,ENST00000467336,;PCNX2,non_coding_transcript_exon_variant,,ENST00000496510,;PCNX2,frameshift_variant,p.Ala98GlnfsTer12,ENST00000462233,;PCNX2,3_prime_UTR_variant,,ENST00000475463,;PCNX2,non_coding_transcript_exon_variant,,ENST00000498302,;PCNX2,upstream_gene_variant,,ENST00000486012,;	-	ENST00000258229	Transcript	frameshift_variant	3461/7518	3226/6414	1076/2137	A/X	Gca/ca		1		-1	PCNX2	HGNC	HGNC:8736	protein_coding	YES	CCDS44335.1	ENSP00000258229	A6NKB5		UPI0000F58F23	NM_014801.3			17/34		hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	39	233177849	233177849	C	-	1	0	1	0	1	0	0	0	0	11680	739	26	0		0	PCNX2	1	233177849	Frame_Shift_Del	DEL	C	C3N-00175_TP	3583471	233177849	15778573	157	10307											
COA6	0	.	GRCh38	chr1	234373791	234373791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacggggtggcactccaatCgcctgcttggtgattgtggc	7	10	14	10	2	0	1	0	1	0	0	2	1	1	1	2	5	2	2	2	5	2	2			C3N-00175_TP	C3N-00175_NB	C	C																c.73C>T	p.Arg25Cys	p.R25C	ENST00000366613	1/3	172	127	45	172	172	0	strelka-varscan-mutect	COA6,missense_variant,p.Arg25Cys,ENST00000366613,NM_001012985.2;COA6,5_prime_UTR_variant,,ENST00000366612,NM_001301733.1;COA6,intron_variant,,ENST00000366615,NM_001206641.2;COA6,intron_variant,,ENST00000619305,;RP5-827C21.6,downstream_gene_variant,,ENST00000610233,;RP5-827C21.4,upstream_gene_variant,,ENST00000451795,;	T	ENST00000366613	Transcript	missense_variant	109/641	73/378	25/125	R/C	Cgc/Tgc	COSM398527	1		1	COA6	HGNC	HGNC:18025	protein_coding		CCDS31059.1	ENSP00000355572	Q5JTJ3		UPI000015FF99	NM_001012985.2	deleterious_low_confidence(0.03)		1/3													1						MODERATE		SNV	1		1	1										PASS		.	.												T	3	4	39	234373791	234373791	C	T	1	0	0	0	0	1	0	0	0	3439	884	31	1		1	COA6	1	234373791	Missense_Mutation	SNP	C	C3N-00175_TP	1195942	234373791	14582631	158	10308											
LYST	0	.	GRCh38	chr1	235702800	235702800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgaaagcaaactgcaCtagcaaccccacagcagctg	13	5	7	16	0	0	1	0	1	0	0	1	1	1	1	3	0	7	5	3	0	4	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.10321G>T	p.Val3441Leu	p.V3441L	ENST00000389793	45/53	568	519	49	387	387	0	strelka-varscan-mutect	LYST,missense_variant,p.Val3441Leu,ENST00000389793,NM_000081.3,NM_001301365.1;LYST,3_prime_UTR_variant,,ENST00000389794,;LYST,non_coding_transcript_exon_variant,,ENST00000473037,;	A	ENST00000389793	Transcript	missense_variant	10496/13480	10321/11406	3441/3801	V/L	Gtg/Ttg		1		-1	LYST	HGNC	HGNC:1968	protein_coding	YES	CCDS31062.1	ENSP00000374443	Q99698		UPI000020509E	NM_000081.3,NM_001301365.1	deleterious(0.02)		45/53		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF86																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	235702800	235702800	C	A	1	0	0	0	0	1	0	0	0	9041	565	20	2		2	LYST	1	235702800	Missense_Mutation	SNP	C	C3N-00175_TP	1329009	235702800	13253622	159	10309											
ACTN2	0	.	GRCh38	chr1	236749162	236749162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaaccattgatcagcttcaCctggagtttgccaagagggc	11	9	11	10	0	2	2	2	1	0	1	2	4	2	3	3	2	3	2	3	2	2	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1554C>A	p.His518Gln	p.H518Q	ENST00000542672	14/21	550	412	138	497	497	0	strelka-varscan-mutect	ACTN2,missense_variant,p.His310Gln,ENST00000546208,NM_001278344.1;ACTN2,missense_variant,p.His518Gln,ENST00000542672,NM_001278343.1;ACTN2,missense_variant,p.His518Gln,ENST00000366578,NM_001103.3;ACTN2,downstream_gene_variant,,ENST00000492634,;ACTN2,upstream_gene_variant,,ENST00000461367,;ACTN2,downstream_gene_variant,,ENST00000492101,;	A	ENST00000542672	Transcript	missense_variant	1774/4906	1554/2685	518/894	H/Q	caC/caA		1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1	tolerated(0.29)		14/21		Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	236749162	236749162	C	A	1	0	0	0	0	1	0	0	0	249	506	18	2		2	ACTN2	1	236749162	Missense_Mutation	SNP	C	C3N-00175_TP	1046362	236749162	12207260	160	10310											
ACTN2	0	.	GRCh38	chr1	236751552	236751552	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccatcatggccatccagaAcgaggtggagaaggtgattc	11	8	13	9	1	1	3	1	1	0	2	4	5	3	3	3	4	1	0	3	4	2	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1739A>T	p.Asn580Ile	p.N580I	ENST00000542672	15/21	413	310	103	329	329	0	strelka-varscan-mutect	ACTN2,missense_variant,p.Asn372Ile,ENST00000546208,NM_001278344.1;ACTN2,missense_variant,p.Asn580Ile,ENST00000542672,NM_001278343.1;ACTN2,missense_variant,p.Asn580Ile,ENST00000366578,NM_001103.3;ACTN2,upstream_gene_variant,,ENST00000461367,;ACTN2,downstream_gene_variant,,ENST00000492101,;	T	ENST00000542672	Transcript	missense_variant	1959/4906	1739/2685	580/894	N/I	aAc/aTc		1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1	tolerated(0.12)		15/21		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	236751552	236751552	A	T	1	0	0	0	0	1	0	0	0	249	43	2	4		4	ACTN2	1	236751552	Missense_Mutation	SNP	A	C3N-00175_TP	2390	236751552	12204870	161	10311											
RYR2	0	.	GRCh38	chr1	237610818	237610818	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcacaagaaccccgtgccGcagtgccccccgcgcctcca	8	3	10	20	4	0	1	0	0	0	1	1	2	1	1	8	0	4	2	8	0	2	0	rs79811945		C3N-00175_TP	C3N-00175_NB	G	G																c.4740G>T	p.=	p.P1580P	ENST00000366574	36/105	229	204	25	156	156	0	strelka-varscan-mutect	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000360064,;	T	ENST00000366574	Transcript	synonymous_variant	5057/16562	4740/14904	1580/4967	P	ccG/ccT	rs79811945,COSM3677622,COSM3677623	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			36/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75											0,1,1						LOW	1	SNV	1		1,1,1	1										PASS		rs79811945	.												T	2	4	39	237610818	237610818	G	T	1	0	0	0	0	0	0	0	1	14029	1074	38	1		1	RYR2	1	237610818	Silent	SNP	G	C3N-00175_TP	859266	237610818	11345604	162	10312											
RYR2	0	.	GRCh38	chr1	237638441	237638441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagacattgggtggaacccaGttgaaggagagagatatctt	13	9	13	6	0	1	4	0	1	1	3	1	7	1	5	1	3	1	1	1	3	3	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.6877G>T	p.Val2293Phe	p.V2293F	ENST00000366574	45/105	358	322	36	287	287	0	strelka-varscan-mutect	RYR2,missense_variant,p.Val2293Phe,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Val2277Phe,ENST00000360064,;	T	ENST00000366574	Transcript	missense_variant	7194/16562	6877/14904	2293/4967	V/F	Gtt/Ttt		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		45/105		Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	237638441	237638441	G	T	1	0	0	0	0	1	0	0	0	14029	1029	36	2		2	RYR2	1	237638441	Missense_Mutation	SNP	G	C3N-00175_TP	27623	237638441	11317981	163	10313											
RYR2	0	.	GRCh38	chr1	237783922	237783922	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatttcttttgtcttgtgcGgagacggatgagaatgaaac	11	13	12	5	2	2	3	0	2	2	2	2	7	2	4	0	2	2	0	0	2	3	4	rs757703714		C3N-00175_TP	C3N-00175_NB	G	G																c.12210G>C	p.=	p.A4070A	ENST00000366574	90/105	412	341	71	281	281	0	strelka-varscan-mutect	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	C	ENST00000366574	Transcript	synonymous_variant	12527/16562	12210/14904	4070/4967	A	gcG/gcC	rs757703714,COSM2048971,COSM4234603,COSM4523584,COSM906259	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			90/105		Gene3D:1.10.238.10,Pfam_domain:PF13833,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Superfamily_domains:SSF47473											0,1,1,1,1						LOW	1	SNV	1		0,1,1,1,1	1										PASS		rs757703714	.												C	2	2	39	237783922	237783922	G	C	1	0	0	0	0	0	0	0	1	14029	1103	39	4		4	RYR2	1	237783922	Silent	SNP	G	C3N-00175_TP	145481	237783922	11172500	164	10314											
RYR2	0	.	GRCh38	chr1	237784109	237784109	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaattatttccagccctttCtgggccgcatcgaaatcatg	9	13	8	11	2	2	1	1	1	1	0	4	2	3	1	3	1	1	1	3	1	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.12397C>T	p.=	p.L4133L	ENST00000366574	90/105	220	192	28	210	210	0	strelka-varscan-mutect	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	T	ENST00000366574	Transcript	synonymous_variant	12714/16562	12397/14904	4133/4967	L	Ctg/Ttg		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			90/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	237784109	237784109	C	T	1	0	0	0	0	0	0	0	1	14029	912	32	3		3	RYR2	1	237784109	Silent	SNP	C	C3N-00175_TP	187	237784109	11172313	165	10315											
RYR2	0	.	GRCh38	chr1	237819113	237819113	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaagacccagcaggagaTgaatatgagatctatcgaat	16	8	10	7	2	1	4	0	2	1	3	3	8	1	4	1	1	1	1	1	1	5	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.14511T>A	p.Asp4837Glu	p.D4837E	ENST00000366574	101/105	206	192	14	149	149	0	strelka-varscan-mutect	RYR2,missense_variant,p.Asp4837Glu,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Asp4820Glu,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000608590,;	A	ENST00000366574	Transcript	missense_variant	14828/16562	14511/14904	4837/4967	D/E	gaT/gaA		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		101/105		Pfam_domain:PF00520,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	237819113	237819113	T	A	1	0	0	0	0	1	0	0	0	14029	1461	51	4		4	RYR2	1	237819113	Missense_Mutation	SNP	T	C3N-00175_TP	35004	237819113	11137309	166	10316											
CHRM3	0	.	GRCh38	chr1	239908762	239908762	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagagtcagccgtggacacAgctaagacttctgacgtcaa	12	8	10	11	2	3	3	2	1	1	2	3	4	3	4	1	1	2	1	1	1	3	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1311A>T	p.=	p.T437T	ENST00000255380	5/5	417	388	29	370	370	0	strelka-varscan-mutect	CHRM3,synonymous_variant,p.=,ENST00000255380,NM_000740.2;CHRM3,synonymous_variant,p.=,ENST00000615928,;CHRM3,downstream_gene_variant,,ENST00000448020,;	T	ENST00000255380	Transcript	synonymous_variant	2090/8780	1311/1773	437/590	T	acA/acT		1		1	CHRM3	HGNC	HGNC:1952	protein_coding	YES	CCDS1616.1	ENSP00000255380	P20309	A0A024R3S2	UPI0000050453	NM_000740.2			5/5		Pfam_domain:PF00001,Prints_domain:PR00540,PROSITE_profiles:PS50262,SMART_domains:SM01381																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	239908762	239908762	A	T	1	0	0	0	0	0	0	0	1	3138	175	7	4		4	CHRM3	1	239908762	Silent	SNP	A	C3N-00175_TP	2089649	239908762	9047660	167	10317											
CEP170	0	.	GRCh38	chr1	243165925	243165925	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgtaggtgtttctttctCctgaagttctgtgtcttgtt	3	21	10	7	0	4	1	0	1	4	0	5	1	4	1	1	1	0	4	1	1	2	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2035G>T	p.Glu679Ter	p.E679*	ENST00000366542	13/20	426	384	42	381	381	0	varscan-mutect	CEP170,stop_gained,p.Glu679Ter,ENST00000366542,NM_014812.2;CEP170,stop_gained,p.Glu581Ter,ENST00000366544,NM_001042404.1;CEP170,stop_gained,p.Glu581Ter,ENST00000366543,NM_001042405.1;CEP170,stop_gained,p.Glu643Ter,ENST00000336415,;CEP170,upstream_gene_variant,,ENST00000490813,;CEP170,upstream_gene_variant,,ENST00000413359,;CEP170,upstream_gene_variant,,ENST00000464936,;CEP170,downstream_gene_variant,,ENST00000522895,;CEP170,upstream_gene_variant,,ENST00000492145,;RP11-261C10.4,intron_variant,,ENST00000437499,;RP11-261C10.4,intron_variant,,ENST00000422938,;CEP170,non_coding_transcript_exon_variant,,ENST00000451408,;CEP170,downstream_gene_variant,,ENST00000518289,;CEP170,downstream_gene_variant,,ENST00000461671,;	A	ENST00000366542	Transcript	stop_gained	2087/6828	2035/4755	679/1584	E/*	Gag/Tag		1		-1	CEP170	HGNC	HGNC:28920	protein_coding	YES	CCDS44339.1	ENSP00000355500	Q5SW79		UPI0000470238	NM_014812.2			13/20		hmmpanther:PTHR15715:SF17,hmmpanther:PTHR15715																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	39	243165925	243165925	C	A	1	0	0	0	0	0	1	0	0	2964	864	30	2		2	CEP170	1	243165925	Nonsense_Mutation	SNP	C	C3N-00175_TP	3257163	243165925	5790497	168	10318											
SMYD3	0	.	GRCh38	chr1	245764116	245764116	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaactttcatcacttgaacCcctctgacgggatggcttcc	8	11	7	15	1	3	2	2	2	1	0	4	3	4	3	4	2	2	1	4	2	2	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1110G>T	p.=	p.G370G	ENST00000490107	11/12	207	166	41	197	196	1	strelka-varscan-mutect	SMYD3,synonymous_variant,p.=,ENST00000490107,NM_001167740.1;SMYD3,synonymous_variant,p.=,ENST00000630181,NM_022743.2;SMYD3,non_coding_transcript_exon_variant,,ENST00000366517,;SMYD3,non_coding_transcript_exon_variant,,ENST00000470510,;SMYD3,non_coding_transcript_exon_variant,,ENST00000493441,;SMYD3,non_coding_transcript_exon_variant,,ENST00000482592,;SMYD3,intron_variant,,ENST00000483072,;SMYD3,intron_variant,,ENST00000490322,;SMYD3,non_coding_transcript_exon_variant,,ENST00000366516,;	A	ENST00000490107	Transcript	synonymous_variant	1150/1548	1110/1287	370/428	G	ggG/ggT		1		-1	SMYD3	HGNC	HGNC:15513	protein_coding	YES	CCDS53486.1	ENSP00000419184	Q9H7B4		UPI000022AFDA	NM_001167740.1			11/12		PROSITE_profiles:PS51574,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF163																	LOW	1	SNV	1			1										PASS		rs1387414367	.												A	2	1	39	245764116	245764116	C	A	1	0	0	0	0	0	0	0	1	15144	610	22	2		2	SMYD3	1	245764116	Silent	SNP	C	C3N-00175_TP	2598191	245764116	3192306	169	10319											
SMYD3	0	.	GRCh38	chr1	246335463	246335463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattcccgcttgtggtctggCcaagcttttttctattaaaa	8	16	7	10	1	2	0	0	0	2	0	3	0	3	0	2	2	1	2	2	2	4	7	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.240G>T	p.Trp80Cys	p.W80C	ENST00000490107	3/12	249	186	63	171	170	1	strelka-varscan-mutect	SMYD3,missense_variant,p.Trp80Cys,ENST00000490107,NM_001167740.1;SMYD3,missense_variant,p.Trp21Cys,ENST00000630181,NM_022743.2;SMYD3,missense_variant,p.Trp80Cys,ENST00000403792,;SMYD3,missense_variant,p.Trp21Cys,ENST00000455277,;SMYD3,missense_variant,p.Trp21Cys,ENST00000453676,;SMYD3,non_coding_transcript_exon_variant,,ENST00000470863,;SMYD3,non_coding_transcript_exon_variant,,ENST00000462422,;	A	ENST00000490107	Transcript	missense_variant	280/1548	240/1287	80/428	W/C	tgG/tgT		1		-1	SMYD3	HGNC	HGNC:15513	protein_coding	YES	CCDS53486.1	ENSP00000419184	Q9H7B4		UPI000022AFDA	NM_001167740.1	deleterious(0)		3/12		Pfam_domain:PF00856,Pfam_domain:PF01753,PROSITE_patterns:PS01360,PROSITE_profiles:PS50280,PROSITE_profiles:PS50865,PROSITE_profiles:PS51574,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF163,SMART_domains:SM00317,Superfamily_domains:SSF82199																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	246335463	246335463	C	A	1	0	0	0	0	1	0	0	0	15144	740	26	2		2	SMYD3	1	246335463	Missense_Mutation	SNP	C	C3N-00175_TP	571347	246335463	2620959	170	10320											
ZNF695	0	.	GRCh38	chr1	246999948	246999948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catattgaagctatcctcacCaagggagatcaggtttctgt	11	12	9	9	0	3	2	2	1	1	1	4	3	4	2	2	2	1	2	2	2	4	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.130G>T	p.Gly44Cys	p.G44C	ENST00000339986	2/4	225	172	53	199	198	1	strelka-varscan-mutect	ZNF695,missense_variant,p.Gly44Cys,ENST00000339986,NM_020394.4;ZNF695,missense_variant,p.Gly44Cys,ENST00000487338,NM_001204221.1;ZNF695,intron_variant,,ENST00000498046,;ZNF670-ZNF695,missense_variant,p.Gly44Cys,ENST00000474541,;ZNF670-ZNF695,missense_variant,p.Gly44Cys,ENST00000465049,;ZNF695,missense_variant,p.Gly44Cys,ENST00000479214,;ZNF695,missense_variant,p.Gly44Cys,ENST00000366504,;ZNF695,missense_variant,p.Gly44Cys,ENST00000491337,;	A	ENST00000339986	Transcript	missense_variant	278/3340	130/1548	44/515	G/C	Ggt/Tgt		1		-1	ZNF695	HGNC	HGNC:30954	protein_coding	YES	CCDS44344.1	ENSP00000341236	Q8IW36		UPI0000F734A8	NM_020394.4	deleterious(0)		2/4		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF119,SMART_domains:SM00349																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	246999948	246999948	C	A	1	0	0	0	0	1	0	0	0	18671	594	21	2		2	ZNF695	1	246999948	Missense_Mutation	SNP	C	C3N-00175_TP	664485	246999948	1956474	171	10321											
NLRP3	0	.	GRCh38	chr1	247425395	247425395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagggccatggactatttccCcaagattgagatcaatctct	12	11	8	10	0	2	2	1	1	1	2	4	4	3	3	3	2	0	0	3	2	4	3			C3N-00175_TP	C3N-00175_NB	C	C																c.1952C>A	p.Pro651His	p.P651H	ENST00000336119	3/9	404	313	91	308	307	1	strelka-varscan-mutect	NLRP3,missense_variant,p.Pro651His,ENST00000366497,NM_001127461.2;NLRP3,missense_variant,p.Pro651His,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,missense_variant,p.Pro651His,ENST00000366496,;NLRP3,missense_variant,p.Pro651His,ENST00000391828,NM_001079821.2;NLRP3,missense_variant,p.Pro651His,ENST00000348069,NM_183395.2;NLRP3,missense_variant,p.Pro651His,ENST00000391827,NM_001127462.2;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	A	ENST00000336119	Transcript	missense_variant	2698/4170	1952/3111	651/1036	P/H	cCc/cAc	COSM4938012	1		1	NLRP3	HGNC	HGNC:16400	protein_coding	YES	CCDS1632.1	ENSP00000337383	Q96P20		UPI00001CE3AD	NM_004895.4,NM_001243133.1	tolerated(0.14)		3/9		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4,Gene3D:3.80.10.10,Superfamily_domains:SSF52047											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	39	247425395	247425395	C	A	1	0	0	0	0	1	0	0	0	10516	623	22	2		2	NLRP3	1	247425395	Missense_Mutation	SNP	C	C3N-00175_TP	425447	247425395	1531027	172	10322											
OR2C3	0	.	GRCh38	chr1	247531972	247531972	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcataatgaggggcatctcGcaaaagaagtggtcgatgca	13	8	13	7	2	1	2	0	1	1	1	3	3	1	2	0	3	2	4	0	3	4	1			C3N-00175_TP	C3N-00175_NB	G	G																c.540C>T	p.=	p.C180C	ENST00000366487	2/2	268	221	47	260	260	0	strelka-varscan-mutect	OR2C3,synonymous_variant,p.=,ENST00000366487,NM_198074.4;OR2C3,synonymous_variant,p.=,ENST00000617752,;GCSAML,intron_variant,,ENST00000366491,NM_001281834.1;GCSAML,intron_variant,,ENST00000536561,NM_001281853.1;GCSAML,intron_variant,,ENST00000366489,NM_001281835.1;GCSAML,intron_variant,,ENST00000623578,NM_001281837.1;GCSAML,intron_variant,,ENST00000463359,;GCSAML,intron_variant,,ENST00000527084,NM_001281836.1;GCSAML,intron_variant,,ENST00000527541,NM_001281838.1;GCSAML,intron_variant,,ENST00000529512,;GCSAML,intron_variant,,ENST00000526896,;GCSAML,intron_variant,,ENST00000531662,;	A	ENST00000366487	Transcript	synonymous_variant	902/2742	540/963	180/320	C	tgC/tgT	COSM4709759	1		-1	OR2C3	HGNC	HGNC:15005	protein_coding	YES	CCDS1634.2	ENSP00000355443	Q8N628		UPI0000061EBD	NM_198074.4			2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF117,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245											1						LOW		SNV			1	1										PASS		.	.												A	2	1	39	247531972	247531972	G	A	1	0	0	0	0	0	0	0	1	11072	1079	38	1		1	OR2C3	1	247531972	Silent	SNP	G	C3N-00175_TP	106577	247531972	1424450	173	10323											
OR2C3	0	.	GRCh38	chr1	247532027	247532027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtaggagcatggtgagcGtggagcccaccatgctggtg	7	7	18	9	2	0	1	0	1	0	0	0	3	0	3	2	5	4	3	2	5	1	1	rs562326145		C3N-00175_TP	C3N-00175_NB	G	G																c.485C>A	p.Thr162Lys	p.T162K	ENST00000366487	2/2	337	303	34	288	288	0	strelka-varscan-mutect	OR2C3,missense_variant,p.Thr162Lys,ENST00000366487,NM_198074.4;OR2C3,missense_variant,p.Thr162Lys,ENST00000617752,;GCSAML,intron_variant,,ENST00000366491,NM_001281834.1;GCSAML,intron_variant,,ENST00000536561,NM_001281853.1;GCSAML,intron_variant,,ENST00000366489,NM_001281835.1;GCSAML,intron_variant,,ENST00000623578,NM_001281837.1;GCSAML,intron_variant,,ENST00000463359,;GCSAML,intron_variant,,ENST00000527084,NM_001281836.1;GCSAML,intron_variant,,ENST00000527541,NM_001281838.1;GCSAML,intron_variant,,ENST00000529512,;GCSAML,intron_variant,,ENST00000526896,;GCSAML,intron_variant,,ENST00000531662,;	T	ENST00000366487	Transcript	missense_variant	847/2742	485/963	162/320	T/K	aCg/aAg	rs562326145,COSM1473755,COSM3977411	1		-1	OR2C3	HGNC	HGNC:15005	protein_coding	YES	CCDS1634.2	ENSP00000355443	Q8N628		UPI0000061EBD	NM_198074.4	deleterious(0.01)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF117,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1,1						MODERATE		SNV			0,1,1	1										PASS		rs562326145	.												T	3	4	39	247532027	247532027	G	T	1	0	0	0	0	1	0	0	0	11072	1145	40	1		1	OR2C3	1	247532027	Missense_Mutation	SNP	G	C3N-00175_TP	55	247532027	1424395	174	10324											
OR13G1	0	.	GRCh38	chr1	247672788	247672788	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatgaaatggtattttctGatgttagcatggtccccagc	10	14	9	8	0	1	2	0	2	1	0	2	2	2	2	2	2	2	3	2	2	4	5			C3N-00175_TP	C3N-00175_NB	G	G																c.254C>A	p.Ser85Ter	p.S85*	ENST00000359688	1/1	339	315	24	239	239	0	strelka-varscan-mutect	OR13G1,stop_gained,p.Ser85Ter,ENST00000359688,NM_001005487.1;RP11-634B7.4,intron_variant,,ENST00000449298,;OR3D1P,downstream_gene_variant,,ENST00000438288,;	T	ENST00000359688	Transcript	stop_gained	254/924	254/924	85/307	S/*	tCa/tAa	COSM5577633	1		-1	OR13G1	HGNC	HGNC:14999	protein_coding	YES	CCDS31094.1	ENSP00000352717	Q8NGZ3		UPI0000061E5B	NM_001005487.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF237,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						HIGH		SNV			1	1										PASS		.	.												T	4	4	39	247672788	247672788	G	T	1	0	0	0	0	0	1	0	0	11018	1294	45	2		2	OR13G1	1	247672788	Nonsense_Mutation	SNP	G	C3N-00175_TP	140761	247672788	1283634	175	10325											
OR14K1	0	.	GRCh38	chr1	247739220	247739220	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtgtggccattggggtCtgttatgcattttcatgttt	5	18	12	6	0	3	0	2	0	1	0	3	0	3	0	1	3	1	3	1	3	1	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.606C>A	p.=	p.V202V	ENST00000283225	1/1	486	445	41	429	429	0	strelka-varscan-mutect	OR14K1,synonymous_variant,p.=,ENST00000283225,;RP11-634B7.4,intron_variant,,ENST00000449298,;	A	ENST00000283225	Transcript	synonymous_variant	606/945	606/945	202/314	V	gtC/gtA		1		1	OR14K1	HGNC	HGNC:15025	protein_coding	YES		ENSP00000283225	Q8NGZ2		UPI0000041CBA				1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW		SNV				1										PASS		.	.												A	2	1	39	247739220	247739220	C	A	1	0	0	0	0	0	0	0	1	11026	900	32	2		2	OR14K1	1	247739220	Silent	SNP	C	C3N-00175_TP	66432	247739220	1217202	176	10326											
OR11L1	0	.	GRCh38	chr1	247841328	247841328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcggtgatataaactctgGaacaggagagctgcatgagt	12	9	12	8	1	1	3	0	2	1	1	2	5	1	4	1	3	4	2	1	3	4	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.569C>A	p.Ser190Tyr	p.S190Y	ENST00000355784	1/1	354	282	72	273	273	0	strelka-varscan-mutect	OR11L1,missense_variant,p.Ser190Tyr,ENST00000355784,NM_001001959.1;	T	ENST00000355784	Transcript	missense_variant	569/969	569/969	190/322	S/Y	tCc/tAc		1		-1	OR11L1	HGNC	HGNC:14998	protein_coding	YES	CCDS31098.1	ENSP00000348033	Q8NGX0		UPI0000061EBC	NM_001001959.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF295,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	39	247841328	247841328	G	T	1	0	0	0	0	1	0	0	0	11007	1174	41	2		2	OR11L1	1	247841328	Missense_Mutation	SNP	G	C3N-00175_TP	102108	247841328	1115094	177	10327											
OR11L1	0	.	GRCh38	chr1	247841661	247841661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaggttggctaggagaaggGgcacagtggtggacgtgtac	9	7	19	6	1	0	1	0	0	0	1	0	3	0	2	0	7	1	5	0	7	3	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.236C>T	p.Pro79Leu	p.P79L	ENST00000355784	1/1	251	189	62	210	210	0	strelka-varscan-mutect	OR11L1,missense_variant,p.Pro79Leu,ENST00000355784,NM_001001959.1;	A	ENST00000355784	Transcript	missense_variant	236/969	236/969	79/322	P/L	cCc/cTc		1		-1	OR11L1	HGNC	HGNC:14998	protein_coding	YES	CCDS31098.1	ENSP00000348033	Q8NGX0		UPI0000061EBC	NM_001001959.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF295,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	247841661	247841661	G	A	1	0	0	0	0	1	0	0	0	11007	1232	43	3		3	OR11L1	1	247841661	Missense_Mutation	SNP	G	C3N-00175_TP	333	247841661	1114761	178	10328											
OR2T8	0	.	GRCh38	chr1	247921939	247921939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgtatgggtcggtgtgtgGccttaagtcgtgaataagac	8	12	16	5	2	0	2	0	1	0	1	2	2	0	2	1	4	0	1	1	4	4	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.922G>T	p.Ala308Ser	p.A308S	ENST00000319968	1/1	163	144	19	157	157	0	strelka-varscan-mutect	OR2T8,missense_variant,p.Ala308Ser,ENST00000319968,NM_001005522.1;	T	ENST00000319968	Transcript	missense_variant	922/939	922/939	308/312	A/S	Gcc/Tcc		1		1	OR2T8	HGNC	HGNC:15020	protein_coding	YES	CCDS31100.1	ENSP00000326225	A6NH00		UPI00001999E3	NM_001005522.1	tolerated(0.83)		1/1		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	39	247921939	247921939	G	T	1	0	0	0	0	1	0	0	0	11107	1203	42	2		2	OR2T8	1	247921939	Missense_Mutation	SNP	G	C3N-00175_TP	80278	247921939	1034483	179	10329											
OR2M2	0	.	GRCh38	chr1	248180509	248180509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtgggtctcgggaaatagCccacttcttctgtgaattcc	7	14	10	10	1	3	1	0	1	3	0	5	2	4	2	2	2	1	0	2	2	3	5			C3N-00175_TP	C3N-00175_NB	C	C																c.524C>T	p.Ala175Val	p.A175V	ENST00000359682	1/1	369	292	77	284	284	0	strelka-varscan-mutect	OR2M2,missense_variant,p.Ala175Val,ENST00000359682,NM_001004688.1;	T	ENST00000359682	Transcript	missense_variant	524/1044	524/1044	175/347	A/V	gCc/gTc	COSM680461	1		1	OR2M2	HGNC	HGNC:8268	protein_coding	YES	CCDS31106.1	ENSP00000352710	Q96R28	A0A126GWI7	UPI00001612E4	NM_001004688.1	deleterious(0.02)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF28,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	39	248180509	248180509	C	T	1	0	0	0	0	1	0	0	0	11088	739	26	3		3	OR2M2	1	248180509	Missense_Mutation	SNP	C	C3N-00175_TP	258570	248180509	775913	180	10330											
OR2T33	0	.	GRCh38	chr1	248273145	248273145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtagagcgcatgtgcaGaacagcagcgaggatgagac	12	7	14	8	2	1	3	0	1	1	3	1	6	1	4	0	1	5	4	0	1	2	2	rs776709960		C3N-00175_TP	C3N-00175_NB	G	G																c.670C>A	p.Leu224Met	p.L224M	ENST00000318021	1/1	209	184	25	162	162	0	varscan-mutect	OR2T33,missense_variant,p.Leu224Met,ENST00000318021,NM_001004695.1;	T	ENST00000318021	Transcript	missense_variant	670/963	670/963	224/320	L/M	Ctg/Atg	rs776709960	1		-1	OR2T33	HGNC	HGNC:31255	protein_coding	YES	CCDS31109.1	ENSP00000324687	Q8NG76		UPI000004B237	NM_001004695.1	deleterious(0.03)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs776709960	.												T	3	4	39	248273145	248273145	G	T	1	0	0	0	0	1	0	0	0	11101	933	33	2		2	OR2T33	1	248273145	Missense_Mutation	SNP	G	C3N-00175_TP	92636	248273145	683277	181	10331											
OR2M7	0	.	GRCh38	chr1	248323936	248323936	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaagtgatgatgattgcAacagggaaaacaagcattac	17	8	11	5	0	0	3	0	3	0	0	0	5	0	5	0	2	5	2	0	2	7	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.633T>G	p.=	p.V211V	ENST00000317965	1/1	476	375	101	413	413	0	strelka-varscan-mutect	OR2M7,synonymous_variant,p.=,ENST00000317965,NM_001004691.1;	C	ENST00000317965	Transcript	synonymous_variant	633/939	633/939	211/312	V	gtT/gtG		1		-1	OR2M7	HGNC	HGNC:19594	protein_coding	YES	CCDS31111.1	ENSP00000324557	Q8NG81	A0A126GVZ1	UPI000004B236	NM_001004691.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF28,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												C	2	2	39	248323936	248323936	A	C	1	0	0	0	0	0	0	0	1	11092	117	5	5		5	OR2M7	1	248323936	Silent	SNP	A	C3N-00175_TP	50791	248323936	632486	182	10332											
OR2T3	0	.	GRCh38	chr1	248474079	248474079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccggccacaggaaggccttGgccacctgctcctcccacat	7	6	10	18	1	0	0	0	0	0	0	2	1	2	1	7	4	1	1	7	4	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.729G>T	p.Leu243Phe	p.L243F	ENST00000359594	1/1	176	147	29	160	159	1	strelka-varscan-mutect	OR2T3,missense_variant,p.Leu243Phe,ENST00000359594,NM_001005495.1;	T	ENST00000359594	Transcript	missense_variant	729/957	729/957	243/318	L/F	ttG/ttT		1		1	OR2T3	HGNC	HGNC:14727	protein_coding	YES	CCDS31117.1	ENSP00000352604	Q8NH03	A0A126GVW5	UPI00001D7CA5	NM_001005495.1	tolerated(1)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF4,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	39	248474079	248474079	G	T	1	0	0	0	0	1	0	0	0	11100	1339	47	2		2	OR2T3	1	248474079	Missense_Mutation	SNP	G	C3N-00175_TP	150143	248474079	482343	183	10333											
ZNF672	0	.	GRCh38	chr1	248847337	248847337	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtgcagcgaatgtggcaaGagcttctgctacagctcagt	9	10	12	10	2	2	1	1	0	1	1	3	2	2	1	0	1	6	5	0	1	3	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.63G>A	p.=	p.K21K	ENST00000306562	4/4	214	200	14	187	187	0	strelka-varscan-mutect	ZNF672,synonymous_variant,p.=,ENST00000306562,NM_024836.2;ZNF672,synonymous_variant,p.=,ENST00000428515,;ZNF672,synonymous_variant,p.=,ENST00000423362,;ZNF692,downstream_gene_variant,,ENST00000451251,NM_001136036.2;ZNF692,downstream_gene_variant,,ENST00000306601,NM_017865.3;ZNF692,downstream_gene_variant,,ENST00000366471,NM_001193328.1;ZNF692,downstream_gene_variant,,ENST00000476503,;ZNF672,downstream_gene_variant,,ENST00000505503,;ZNF672,downstream_gene_variant,,ENST00000502697,;ZNF672,downstream_gene_variant,,ENST00000510904,;ZNF672,downstream_gene_variant,,ENST00000515369,;ZNF692,downstream_gene_variant,,ENST00000463519,;ZNF692,downstream_gene_variant,,ENST00000533927,;ZNF692,downstream_gene_variant,,ENST00000412341,;ZNF692,downstream_gene_variant,,ENST00000470787,;ZNF692,downstream_gene_variant,,ENST00000477070,;ZNF692,downstream_gene_variant,,ENST00000474351,;ZNF692,downstream_gene_variant,,ENST00000482023,;ZNF692,downstream_gene_variant,,ENST00000462037,;	A	ENST00000306562	Transcript	synonymous_variant	809/2989	63/1359	21/452	K	aaG/aaA		1		1	ZNF672	HGNC	HGNC:26179	protein_coding	YES	CCDS1638.1	ENSP00000421915	Q499Z4		UPI0000070D6C	NM_024836.2			4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	248847337	248847337	G	A	1	0	0	0	0	0	0	0	1	18653	933	33	3		3	ZNF672	1	248847337	Silent	SNP	G	C3N-00175_TP	373258	248847337	109085	184	10334											
PXDN	0	.	GRCh38	chr2	1643556	1643556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgggccggggagaacaccCcagggttctcataccacaac	10	5	12	14	1	1	1	1	0	1	1	2	2	1	1	4	4	3	2	4	4	3	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3764G>T	p.Gly1255Val	p.G1255V	ENST00000252804	19/23	165	120	45	193	193	0	strelka-varscan-mutect	PXDN,missense_variant,p.Gly1255Val,ENST00000252804,NM_012293.2;PXDN,non_coding_transcript_exon_variant,,ENST00000477093,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;PXDN,upstream_gene_variant,,ENST00000453308,;	A	ENST00000252804	Transcript	missense_variant	3815/6808	3764/4440	1255/1479	G/V	gGg/gTg		1		-1	PXDN	HGNC	HGNC:14966	protein_coding	YES	CCDS46221.1	ENSP00000252804	Q92626		UPI00001C1DC2	NM_012293.2	deleterious(0)		19/23		Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF75,Superfamily_domains:SSF48113																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	1643556	1643556	C	A	1	0	0	0	0	1	0	0	0	13001	623	22	2		2	PXDN	2	1643556	Missense_Mutation	SNP	C	C3N-00175_TP		1643556	240549973	185	10335											
KIDINS220	0	.	GRCh38	chr2	8788675	8788675	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaagctttagtagtctgctCtggcaactcaggtggattca	10	13	10	8	0	4	0	2	0	2	0	4	1	4	1	0	3	3	4	0	3	5	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1759G>C	p.Glu587Gln	p.E587Q	ENST00000256707	15/30	103	91	12	145	145	0	strelka-varscan-mutect	KIDINS220,missense_variant,p.Glu587Gln,ENST00000256707,NM_020738.2;KIDINS220,missense_variant,p.Glu587Gln,ENST00000473731,;KIDINS220,missense_variant,p.Glu588Gln,ENST00000489024,;KIDINS220,missense_variant,p.Glu588Gln,ENST00000319688,;KIDINS220,missense_variant,p.Glu334Gln,ENST00000496383,;KIDINS220,3_prime_UTR_variant,,ENST00000488729,;KIDINS220,downstream_gene_variant,,ENST00000474782,;	G	ENST00000256707	Transcript	missense_variant	1941/7361	1759/5316	587/1771	E/Q	Gag/Cag		1		-1	KIDINS220	HGNC	HGNC:29508	protein_coding	YES	CCDS42650.1	ENSP00000256707	Q9ULH0		UPI0000208E08	NM_020738.2	tolerated(0.23)		15/30		Pfam_domain:PF07693,hmmpanther:PTHR24116																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	8788675	8788675	C	G	1	0	0	0	0	1	0	0	0	8135	922	32	4		4	KIDINS220	2	8788675	Missense_Mutation	SNP	C	C3N-00175_TP	7145119	8788675	233404854	186	10336											
ASAP2	0	.	GRCh38	chr2	9358840	9358840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagctgggggttcattattCcaggatgcagtccctgacct	8	11	12	10	0	1	2	1	1	0	1	3	3	3	3	3	3	2	3	3	3	1	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1412C>A	p.Ser471Tyr	p.S471Y	ENST00000281419	15/28	172	125	47	192	191	1	strelka-varscan-mutect	ASAP2,missense_variant,p.Ser471Tyr,ENST00000281419,NM_003887.2;ASAP2,missense_variant,p.Ser471Tyr,ENST00000315273,NM_001135191.1;ASAP2,downstream_gene_variant,,ENST00000471687,;	A	ENST00000281419	Transcript	missense_variant	1752/5712	1412/3021	471/1006	S/Y	tCc/tAc		1		1	ASAP2	HGNC	HGNC:2721	protein_coding	YES	CCDS1661.1	ENSP00000281419	O43150		UPI0000073459	NM_003887.2	deleterious(0)		15/28		PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF238,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	9358840	9358840	C	A	1	0	0	0	0	1	0	0	0	1153	855	30	2		2	ASAP2	2	9358840	Missense_Mutation	SNP	C	C3N-00175_TP	570165	9358840	232834689	187	10337											
APOB	0	.	GRCh38	chr2	21007255	21007255	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttttttcaaaatgcctgtCaaaggatttgatgctctgac	10	16	8	7	0	3	2	2	2	1	0	3	3	3	3	1	1	2	2	1	1	3	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.9613G>C	p.Asp3205His	p.D3205H	ENST00000233242	26/29	111	99	12	121	121	0	strelka-varscan-mutect	APOB,missense_variant,p.Asp3205His,ENST00000233242,NM_000384.2;	G	ENST00000233242	Transcript	missense_variant	9741/14121	9613/13692	3205/4563	D/H	Gac/Cac		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	tolerated(0.09)		26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	21007255	21007255	C	G	1	0	0	0	0	1	0	0	0	907	826	29	4		4	APOB	2	21007255	Missense_Mutation	SNP	C	C3N-00175_TP	11648415	21007255	221186274	188	10338											
APOB	0	.	GRCh38	chr2	21042386	21042386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgatcctggtggcacttCttgaatcagcagtcccaggg	8	11	12	10	0	2	2	1	2	1	0	4	2	4	2	2	3	1	3	2	3	1	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.212G>T	p.Arg71Ile	p.R71I	ENST00000233242	3/29	561	436	125	547	547	0	strelka-varscan-mutect	APOB,missense_variant,p.Arg71Ile,ENST00000233242,NM_000384.2;APOB,missense_variant,p.Arg71Ile,ENST00000399256,;	A	ENST00000233242	Transcript	missense_variant	340/14121	212/13692	71/4563	R/I	aGa/aTa		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	deleterious(0)		3/29		PROSITE_profiles:PS51211,hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Pfam_domain:PF01347,Gene3D:1lshA01,SMART_domains:SM00638,Superfamily_domains:SSF56968																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	21042386	21042386	C	A	1	0	0	0	0	1	0	0	0	907	913	32	2		2	APOB	2	21042386	Missense_Mutation	SNP	C	C3N-00175_TP	35131	21042386	221151143	189	10339											
KHK	0	.	GRCh38	chr2	27094556	27094556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggctccgtccccatcGccacggtcatcatcaacgag	9	6	8	18	4	3	0	3	0	0	0	6	1	5	0	5	2	1	1	5	2	1	0	rs565695602		C3N-00175_TP	C3N-00175_NB	G	G																c.289G>A	p.Ala97Thr	p.A97T	ENST00000260599	3/8	466	416	50	547	547	0	strelka-varscan-mutect	KHK,missense_variant,p.Ala97Thr,ENST00000260599,NM_000221.2;KHK,missense_variant,p.Ala97Thr,ENST00000429697,;KHK,intron_variant,,ENST00000260598,NM_006488.2;CGREF1,downstream_gene_variant,,ENST00000402550,NM_001166240.1;KHK,non_coding_transcript_exon_variant,,ENST00000490823,;KHK,non_coding_transcript_exon_variant,,ENST00000469936,;CGREF1,downstream_gene_variant,,ENST00000440612,;KHK,upstream_gene_variant,,ENST00000464371,;	A	ENST00000260599	Transcript	missense_variant	802/2411	289/897	97/298	A/T	Gcc/Acc	rs565695602	1		1	KHK	HGNC	HGNC:6315	protein_coding	YES	CCDS1734.1	ENSP00000260599	P50053	A0A140VJM6	UPI000012DE02	NM_000221.2	deleterious(0)		3/8		Gene3D:3.40.1190.20,Pfam_domain:PF00294,hmmpanther:PTHR10584,hmmpanther:PTHR10584:SF177,Superfamily_domains:SSF53613																	MODERATE	1	SNV	1			1										PASS		rs565695602	.												A	3	1	39	27094556	27094556	G	A	1	0	0	0	0	1	0	0	0	8070	1087	38	1		1	KHK	2	27094556	Missense_Mutation	SNP	G	C3N-00175_TP	6052170	27094556	215098973	190	10340											
FAM179A	0	.	GRCh38	chr2	29002701	29002701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaagggcctggacctacCggggagcattccgggtcctc	8	6	15	12	2	0	1	0	0	0	1	3	4	2	3	5	5	2	1	5	5	2	2	rs376377047		C3N-00175_TP	C3N-00175_NB	C	C																c.593C>A	p.Pro198Gln	p.P198Q	ENST00000379558	5/20	227	187	40	304	304	0	strelka-varscan-mutect	FAM179A,missense_variant,p.Pro198Gln,ENST00000379558,NM_199280.2;FAM179A,intron_variant,,ENST00000401723,;FAM179A,downstream_gene_variant,,ENST00000420297,;	A	ENST00000379558	Transcript	missense_variant	944/12691	593/3060	198/1019	P/Q	cCg/cAg	rs376377047	1		1	FAM179A	HGNC	HGNC:33715	protein_coding	YES	CCDS1769.2	ENSP00000368876	Q6ZUX3		UPI00014F7B81	NM_199280.2	tolerated(0.15)		5/20		hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF42																	MODERATE	1	SNV	5			1										PASS		rs376377047	.												A	3	1	39	29002701	29002701	C	A	1	0	0	0	0	1	0	0	0	5350	652	23	1		1	FAM179A	2	29002701	Missense_Mutation	SNP	C	C3N-00175_TP	1908145	29002701	213190828	191	10341											
ALK	0	.	GRCh38	chr2	29226958	29226958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcagccagcaccgtccCgtggtcacagaagcagatga	11	6	10	14	2	2	3	2	1	0	2	4	3	4	3	4	1	3	2	4	1	1	0	rs587778021		C3N-00175_TP	C3N-00175_NB	C	C																c.3031G>T	p.Gly1011Trp	p.G1011W	ENST00000389048	18/29	442	344	98	440	439	1	strelka-varscan-mutect	ALK,missense_variant,p.Gly1011Trp,ENST00000389048,NM_004304.4;ALK,missense_variant,p.Gly634Trp,ENST00000618119,;ALK,upstream_gene_variant,,ENST00000431873,;ALK,upstream_gene_variant,,ENST00000453137,;	A	ENST00000389048	Transcript	missense_variant	3938/6220	3031/4863	1011/1620	G/W	Ggg/Tgg	rs587778021	1		-1	ALK	HGNC	HGNC:427	protein_coding	YES	CCDS33172.1	ENSP00000373700	Q9UM73		UPI00001684DA	NM_004304.4	deleterious(0)		18/29		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF276										not_provided							MODERATE	1	SNV	1		1	1										PASS		rs587778021	.												A	3	1	39	29226958	29226958	C	A	1	0	0	0	0	1	0	0	0	625	652	23	1		1	ALK	2	29226958	Missense_Mutation	SNP	C	C3N-00175_TP	224257	29226958	212966571	192	10342											
CAPN14	0	.	GRCh38	chr2	31177043	31177043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccctccatgttctctacaCgcagcatcaagtggatgaaa	12	10	7	12	1	2	1	1	1	1	0	4	2	3	2	2	1	3	3	2	1	4	3	rs375553136		C3N-00175_TP	C3N-00175_NB	C	C																c.1955G>T	p.Arg652Leu	p.R652L	ENST00000403897	20/22	121	99	22	160	160	0	strelka-varscan-mutect	CAPN14,missense_variant,p.Arg652Leu,ENST00000403897,NM_001145122.1;CAPN14,3_prime_UTR_variant,,ENST00000398824,NM_001321270.1;	A	ENST00000403897	Transcript	missense_variant	2097/2197	1955/2055	652/684	R/L	cGt/cTt	rs375553136	1		-1	CAPN14	HGNC	HGNC:16664	protein_coding	YES	CCDS46254.1	ENSP00000385247	A8MX76		UPI000173A463	NM_001145122.1	deleterious(0.02)		20/22		PROSITE_profiles:PS50222,hmmpanther:PTHR10183:SF302,hmmpanther:PTHR10183,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	2			1										PASS		rs375553136	.												A	3	1	39	31177043	31177043	C	A	1	0	0	0	0	1	0	0	0	2319	536	19	1		1	CAPN14	2	31177043	Missense_Mutation	SNP	C	C3N-00175_TP	1950085	31177043	211016486	193	10343											
EHD3	0	.	GRCh38	chr2	31260736	31260736	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggtccttggggaagatCgtgaacaccccagaggtgat	10	9	14	8	1	0	4	0	2	0	2	2	5	1	5	3	4	1	0	3	4	2	1	rs758911736		C3N-00175_TP	C3N-00175_NB	C	C																c.729C>A	p.=	p.I243I	ENST00000322054	4/6	124	99	25	177	177	0	strelka-varscan-mutect	EHD3,synonymous_variant,p.=,ENST00000322054,NM_014600.2;	A	ENST00000322054	Transcript	synonymous_variant	1014/4636	729/1608	243/535	I	atC/atA	rs758911736,COSM3407818	1		1	EHD3	HGNC	HGNC:3244	protein_coding	YES	CCDS1774.1	ENSP00000327116	Q9NZN3		UPI0000140D07	NM_014600.2			4/6		PROSITE_profiles:PS51718,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF67,Superfamily_domains:SSF52540											0,1						LOW	1	SNV	1		0,1	1										PASS		rs758911736	.												A	2	1	39	31260736	31260736	C	A	1	0	0	0	0	0	0	0	1	4815	874	31	1		1	EHD3	2	31260736	Silent	SNP	C	C3N-00175_TP	83693	31260736	210932793	194	10344											
MEMO1	0	.	GRCh38	chr2	31883408	31883408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttatctagatgttcaatgGatctataaatctccccctgg	10	16	6	9	0	4	1	1	0	3	1	5	2	4	2	2	2	0	1	2	2	6	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.635C>T	p.Ser212Phe	p.S212F	ENST00000295065	7/9	99	84	15	175	175	0	strelka-varscan-mutect	MEMO1,missense_variant,p.Ser212Phe,ENST00000295065,NM_015955.3;MEMO1,missense_variant,p.Ser215Phe,ENST00000379383,;MEMO1,missense_variant,p.Ser212Phe,ENST00000404530,NM_001301833.1;MEMO1,missense_variant,p.Ser189Phe,ENST00000426310,NM_001137602.2;DPY30,non_coding_transcript_exon_variant,,ENST00000446765,;MEMO1,intron_variant,,ENST00000490459,;MEMO1,intron_variant,,ENST00000422936,;	A	ENST00000295065	Transcript	missense_variant	945/4505	635/894	212/297	S/F	tCc/tTc		1		-1	MEMO1	HGNC	HGNC:14014	protein_coding	YES	CCDS1776.1	ENSP00000295065	Q9Y316		UPI0000001C55	NM_015955.3	deleterious(0)		7/9		HAMAP:MF_00055,Pfam_domain:PF01875,hmmpanther:PTHR11060,hmmpanther:PTHR11060:SF0,TIGRFAM_domain:TIGR04336																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	31883408	31883408	G	A	1	0	0	0	0	1	0	0	0	9416	1174	41	3		3	MEMO1	2	31883408	Missense_Mutation	SNP	G	C3N-00175_TP	622672	31883408	210310121	195	10345											
HEATR5B	0	.	GRCh38	chr2	37065755	37065755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtaactgaatgtcatacCtatagatgcttcttgaataa	15	13	6	7	0	2	3	1	2	1	1	2	3	2	3	1	0	3	2	1	0	8	7	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1333G>T	p.Gly445Trp	p.G445W	ENST00000233099	9/36	68	56	12	76	76	0	strelka-varscan-mutect	HEATR5B,missense_variant,p.Gly445Trp,ENST00000233099,NM_019024.2;	A	ENST00000233099	Transcript	missense_variant,splice_region_variant	1429/6905	1333/6216	445/2071	G/W	Ggg/Tgg		1		-1	HEATR5B	HGNC	HGNC:29273	protein_coding	YES	CCDS33181.1	ENSP00000233099	Q9P2D3		UPI0000160DCD	NM_019024.2	deleterious(0)		9/36		Gene3D:1.25.10.10,hmmpanther:PTHR21663,hmmpanther:PTHR21663:SF2,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	37065755	37065755	C	A	1	0	0	0	0	1	0	0	0	6914	695	24	2		2	HEATR5B	2	37065755	Missense_Mutation	SNP	C	C3N-00175_TP	5182347	37065755	205127774	196	10346											
EIF2AK2	0	.	GRCh38	chr2	37141623	37141623	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttttcttctgggcaattcTattgataaggcctatgtaat	9	18	7	7	0	4	1	0	1	4	0	4	1	4	1	1	2	0	2	1	2	5	9	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.319A>G	p.Arg107Gly	p.R107G	ENST00000233057	5/17	187	147	40	229	229	0	strelka-varscan-mutect	EIF2AK2,missense_variant,p.Arg107Gly,ENST00000233057,;EIF2AK2,missense_variant,p.Arg107Gly,ENST00000395127,NM_001135651.2,NM_002759.3;EIF2AK2,missense_variant,p.Arg107Gly,ENST00000405334,NM_001135652.2;EIF2AK2,missense_variant,p.Arg107Gly,ENST00000411537,;EIF2AK2,downstream_gene_variant,,ENST00000390013,;EIF2AK2,non_coding_transcript_exon_variant,,ENST00000496059,;	C	ENST00000233057	Transcript	missense_variant	642/10042	319/1656	107/551	R/G	Aga/Gga		1		-1	EIF2AK2	HGNC	HGNC:9437	protein_coding	YES	CCDS1786.1	ENSP00000233057	P19525		UPI000000D925		deleterious(0.02)		5/17		Gene3D:3.30.160.20,Pfam_domain:PF00035,PROSITE_profiles:PS50137,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF102,SMART_domains:SM00358,Superfamily_domains:SSF54768																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	39	37141623	37141623	T	C	1	0	0	0	0	1	0	0	0	4833	1530	53	5		5	EIF2AK2	2	37141623	Missense_Mutation	SNP	T	C3N-00175_TP	75868	37141623	205051906	197	10347											
ARHGEF33	0	.	GRCh38	chr2	38958069	38958069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgtacaaagggctggcttCccagtgtgccaatgctgggc	7	9	14	11	0	0	0	0	0	0	0	1	0	1	0	2	3	3	5	2	3	3	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1406C>T	p.Ser469Phe	p.S469F	ENST00000409978	15/18	165	137	28	194	194	0	strelka-varscan-mutect	ARHGEF33,missense_variant,p.Ser469Phe,ENST00000409978,;ARHGEF33,missense_variant,p.Ser469Phe,ENST00000398800,NM_001145451.2;ARHGEF33,upstream_gene_variant,,ENST00000433605,;ARHGEF33,upstream_gene_variant,,ENST00000411874,;RP11-173C1.1,downstream_gene_variant,,ENST00000601251,;ARHGEF33,non_coding_transcript_exon_variant,,ENST00000483305,;ARHGEF33,upstream_gene_variant,,ENST00000430382,;ARHGEF33,non_coding_transcript_exon_variant,,ENST00000486958,;	T	ENST00000409978	Transcript	missense_variant	1671/4484	1406/2613	469/870	S/F	tCc/tTc		1		1	ARHGEF33	HGNC	HGNC:37252	protein_coding	YES	CCDS46263.2	ENSP00000387020	A8MVX0		UPI000188157A		deleterious_low_confidence(0)		15/18																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	38958069	38958069	C	T	1	0	0	0	0	1	0	0	0	1038	855	30	3		3	ARHGEF33	2	38958069	Missense_Mutation	SNP	C	C3N-00175_TP	1816446	38958069	203235460	198	10348											
SRBD1	0	.	GRCh38	chr2	45562710	45562710	+	Frame_Shift_Del	DEL	T	T	-																															ctccatcagaaatattgaccTtaaccgtcagtaccttcaaa																										C3N-00175_TP	C3N-00175_NB	T	T																c.1352delA	p.Lys451ArgfsTer8	p.K451Rfs*8	ENST00000263736	10/21	92	77	15	93	93	0	sindel-varindel-pindel	SRBD1,frameshift_variant,p.Lys451ArgfsTer8,ENST00000263736,NM_018079.4;SRBD1,non_coding_transcript_exon_variant,,ENST00000493649,;	-	ENST00000263736	Transcript	frameshift_variant	1415/3681	1352/2988	451/995	K/X	aAg/ag	COSM1306824	1		-1	SRBD1	HGNC	HGNC:25521	protein_coding	YES	CCDS1823.1	ENSP00000263736	Q8N5C6		UPI000004CC06	NM_018079.4			10/21		Superfamily_domains:0054854,Gene3D:3bzcA02,hmmpanther:PTHR10724,hmmpanther:PTHR10724:SF1											1						HIGH	1	deletion	2		1	1										PASS		.	.												-	7	5	39	45562710	45562710	T	-	1	0	1	0	1	0	0	0	0	15491	1609	56	0		0	SRBD1	2	45562710	Frame_Shift_Del	DEL	T	C3N-00175_TP	6604641	45562710	196630819	199	10349											
ASB3	0	.	GRCh38	chr2	53750918	53750918	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccttcaaaggtcttcaTcttaatgtagttttcagatg	12	15	7	7	0	5	1	3	0	2	1	5	2	5	1	1	1	1	2	1	1	4	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.220A>G	p.Met74Val	p.M74V	ENST00000263634	3/10	91	73	18	73	73	0	strelka-varscan-mutect	ASB3,start_lost,p.Met1?,ENST00000406687,NM_001201965.1;ASB3,start_lost,p.Met1?,ENST00000394717,NM_145863.2;ASB3,missense_variant,p.Met67Val,ENST00000406053,;ASB3,missense_variant,p.Met74Val,ENST00000263634,NM_016115.4;GPR75-ASB3,missense_variant,p.Met112Val,ENST00000406625,NM_001164165.1;ASB3,non_coding_transcript_exon_variant,,ENST00000482829,;ASB3,non_coding_transcript_exon_variant,,ENST00000482134,;ASB3,non_coding_transcript_exon_variant,,ENST00000480522,;ASB3,non_coding_transcript_exon_variant,,ENST00000470916,;ASB3,non_coding_transcript_exon_variant,,ENST00000489508,;GPR75-ASB3,non_coding_transcript_exon_variant,,ENST00000459916,;GPR75-ASB3,intron_variant,,ENST00000498475,;	C	ENST00000263634	Transcript	missense_variant	355/2214	220/1557	74/518	M/V	Atg/Gtg		1		-1	ASB3	HGNC	HGNC:16013	protein_coding	YES	CCDS1846.1	ENSP00000263634	Q9Y575	A0A0A6YY97	UPI00001260E7	NM_016115.4	tolerated(0.1)		3/10		PROSITE_profiles:PS50297,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF39,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	53750918	53750918	T	C	1	0	0	0	0	1	0	0	0	1166	1435	50	5		5	ASB3	2	53750918	Missense_Mutation	SNP	T	C3N-00175_TP	8188208	53750918	188442611	200	10350											
WDR92	0	.	GRCh38	chr2	68157322	68157322	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatgacgccggtgcccCgtgcgaagttgcccatggtc	6	8	14	13	4	0	2	0	2	0	0	1	3	0	2	4	2	3	2	4	2	2	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.122G>T	p.Arg41Leu	p.R41L	ENST00000295121	1/8	160	118	42	190	189	1	strelka-varscan-mutect	WDR92,missense_variant,p.Arg41Leu,ENST00000295121,NM_138458.3;WDR92,missense_variant,p.Arg41Leu,ENST00000409164,NM_001256476.1;WDR92,intron_variant,,ENST00000406245,;PNO1,upstream_gene_variant,,ENST00000263657,NM_020143.2;WDR92,intron_variant,,ENST00000492039,;RP11-474G23.1,3_prime_UTR_variant,,ENST00000406334,;WDR92,non_coding_transcript_exon_variant,,ENST00000468984,;PNO1,upstream_gene_variant,,ENST00000430742,;	A	ENST00000295121	Transcript	missense_variant	239/2626	122/1074	41/357	R/L	cGg/cTg		1		-1	WDR92	HGNC	HGNC:25176	protein_coding	YES	CCDS1884.1	ENSP00000295121	Q96MX6	A0A140VK67	UPI000006F50D	NM_138458.3	deleterious(0)		1/8		Gene3D:2.130.10.10,hmmpanther:PTHR10971,hmmpanther:PTHR10971:SF2,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		rs1417716311	.												A	3	1	39	68157322	68157322	C	A	1	0	0	0	0	1	0	0	0	17895	652	23	1		1	WDR92	2	68157322	Missense_Mutation	SNP	C	C3N-00175_TP	14406404	68157322	174036207	201	10351											
ANTXR1	0	.	GRCh38	chr2	69245468	69245468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcctccctcccgccctcctCcaaggccttctgtctagagc	4	10	6	21	1	2	1	0	0	2	1	7	1	7	1	7	1	1	0	7	1	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1678C>G	p.Pro560Ala	p.P560A	ENST00000303714	18/18	113	82	31	93	93	0	strelka-varscan-mutect	ANTXR1,missense_variant,p.Pro560Ala,ENST00000303714,NM_032208.2;	G	ENST00000303714	Transcript	missense_variant	2000/5859	1678/1695	560/564	P/A	Cca/Gca		1		1	ANTXR1	HGNC	HGNC:21014	protein_coding	YES	CCDS1892.1	ENSP00000301945	Q9H6X2		UPI0000049806	NM_032208.2	deleterious_low_confidence(0)		18/18		Prints_domain:PR01217,hmmpanther:PTHR16059,hmmpanther:PTHR16059:SF11,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	69245468	69245468	C	G	1	0	0	0	0	1	0	0	0	818	855	30	4		4	ANTXR1	2	69245468	Missense_Mutation	SNP	C	C3N-00175_TP	1088146	69245468	172948061	202	10352											
ATP6V1B1	0	.	GRCh38	chr2	70958070	70958070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtatgcggagatcgtcCacttcaccctcccagatggg	8	8	10	15	2	1	2	1	0	0	2	4	3	3	2	4	2	1	1	4	2	1	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.199C>T	p.His67Tyr	p.H67Y	ENST00000234396	3/14	464	369	95	489	489	0	strelka-varscan-mutect	ATP6V1B1,missense_variant,p.His67Tyr,ENST00000234396,NM_001692.3;ATP6V1B1,missense_variant,p.His67Tyr,ENST00000412314,;ATP6V1B1,missense_variant,p.His84Tyr,ENST00000454446,;ATP6V1B1,5_prime_UTR_variant,,ENST00000432098,;AC007040.11,intron_variant,,ENST00000606025,;ATP6V1B1,missense_variant,p.His67Tyr,ENST00000432367,;ATP6V1B1,non_coding_transcript_exon_variant,,ENST00000463380,;AC007040.11,intron_variant,,ENST00000453130,;ATP6V1B1,upstream_gene_variant,,ENST00000495118,;TCEB1P21,upstream_gene_variant,,ENST00000412558,;	T	ENST00000234396	Transcript	missense_variant	272/1891	199/1542	67/513	H/Y	Cac/Tac		1		1	ATP6V1B1	HGNC	HGNC:853	protein_coding	YES	CCDS1912.1	ENSP00000234396	P15313		UPI000013C9A0	NM_001692.3	deleterious(0.02)		3/14		HAMAP:MF_00310,hmmpanther:PTHR15184,hmmpanther:PTHR15184:SF29,TIGRFAM_domain:TIGR01040,PIRSF_domain:PIRSF039114,Pfam_domain:PF02874																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	70958070	70958070	C	T	1	0	0	0	0	1	0	0	0	1331	594	21	3		3	ATP6V1B1	2	70958070	Missense_Mutation	SNP	C	C3N-00175_TP	1712602	70958070	171235459	203	10353											
ANKRD53	0	.	GRCh38	chr2	70978812	70978812	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacgcggagtccaagcagcCcaggtgggtagcgggagaag	10	4	18	9	3	0	2	0	1	0	1	1	4	1	3	2	4	3	2	2	4	3	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.167C>A	p.Pro56His	p.P56H	ENST00000360589	1/6	88	65	23	114	114	0	strelka-varscan-mutect	ANKRD53,missense_variant,p.Pro56His,ENST00000272421,NM_024933.3;ANKRD53,missense_variant,p.Pro56His,ENST00000441349,;ANKRD53,missense_variant,p.Pro56His,ENST00000457410,;ANKRD53,missense_variant,p.Pro56His,ENST00000360589,NM_001115116.1;AC007040.11,intron_variant,,ENST00000606025,;AC007040.11,intron_variant,,ENST00000453130,;ANKRD53,upstream_gene_variant,,ENST00000496088,;ANKRD53,upstream_gene_variant,,ENST00000460927,;ANKRD53,upstream_gene_variant,,ENST00000483334,;	A	ENST00000360589	Transcript	missense_variant	201/1666	167/1593	56/530	P/H	cCc/cAc		1		1	ANKRD53	HGNC	HGNC:25691	protein_coding	YES	CCDS46321.1	ENSP00000353796	Q8N9V6		UPI000013D952	NM_001115116.1	deleterious_low_confidence(0)		1/6		hmmpanther:PTHR24160																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	70978812	70978812	C	A	1	0	0	0	0	1	0	0	0	783	637	22	2		2	ANKRD53	2	70978812	Missense_Mutation	SNP	C	C3N-00175_TP	20742	70978812	171214717	204	10354											
EXOC6B	0	.	GRCh38	chr2	72492403	72492403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacaggtttgttgatttcCgaatcatgtcatcaacttca	11	14	7	9	1	4	1	4	1	0	0	5	2	5	1	1	1	2	3	1	1	3	4	rs755839202		C3N-00175_TP	C3N-00175_NB	C	C																c.1580G>T	p.Arg527Leu	p.R527L	ENST00000272427	16/22	121	105	16	137	137	0	strelka-varscan-mutect	EXOC6B,missense_variant,p.Arg527Leu,ENST00000272427,NM_001321729.1,NM_001321734.1,NM_015189.1;EXOC6B,missense_variant,p.Arg527Leu,ENST00000410104,;EXOC6B,missense_variant,p.Arg527Leu,ENST00000634650,;EXOC6B,non_coding_transcript_exon_variant,,ENST00000464347,;EXOC6B,downstream_gene_variant,,ENST00000410112,;	A	ENST00000272427	Transcript	missense_variant	1711/5918	1580/2436	527/811	R/L	cGg/cTg	rs755839202	1		-1	EXOC6B	HGNC	HGNC:17085	protein_coding	YES	CCDS46333.1	ENSP00000272427	Q9Y2D4		UPI000046995C	NM_001321729.1,NM_001321734.1,NM_015189.1	deleterious(0)		16/22		hmmpanther:PTHR12702:SF3,hmmpanther:PTHR12702,Pfam_domain:PF04091,PIRSF_domain:PIRSF025007																	MODERATE	1	SNV	2			1										PASS		rs755839202	.												A	3	1	39	72492403	72492403	C	A	1	0	0	0	0	1	0	0	0	5177	652	23	1		1	EXOC6B	2	72492403	Missense_Mutation	SNP	C	C3N-00175_TP	1513591	72492403	169701126	205	10355											
SPR	0	.	GRCh38	chr2	72888377	72888377	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccactcaagtgaacaactActgggcactgaacttgacct	12	9	7	13	0	1	3	1	3	0	0	2	3	2	3	2	1	4	1	2	1	5	2			C3N-00175_TP	C3N-00175_NB	A	A																c.368A>G	p.Tyr123Cys	p.Y123C	ENST00000234454	2/3	88	71	17	106	106	0	strelka-varscan-mutect	SPR,missense_variant,p.Tyr123Cys,ENST00000234454,NM_003124.4;SPR,intron_variant,,ENST00000498749,;	G	ENST00000234454	Transcript	missense_variant	441/1480	368/786	123/261	Y/C	tAc/tGc	COSM3939154	1		1	SPR	HGNC	HGNC:11257	protein_coding	YES	CCDS1920.1	ENSP00000234454	P35270		UPI000004C79D	NM_003124.4	deleterious(0)		2/3		Gene3D:3.40.50.720,Pfam_domain:PF00106,hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF398,Superfamily_domains:SSF51735,TIGRFAM_domain:TIGR01500											1						MODERATE	1	SNV	1		1	1										PASS		rs1024333245	.												G	3	3	39	72888377	72888377	A	G	1	0	0	0	0	1	0	0	0	15445	391	14	5		5	SPR	2	72888377	Missense_Mutation	SNP	A	C3N-00175_TP	395974	72888377	169305152	206	10356											
RAB11FIP5	0	.	GRCh38	chr2	73088141	73088141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatgagtgatgtggggaggCccccaggatgggacccccct	7	6	17	11	0	0	2	0	2	0	0	0	6	0	6	5	6	0	0	5	6	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1477G>T	p.Ala493Ser	p.A493S	ENST00000258098	3/5	147	101	46	194	193	1	strelka-varscan-mutect	RAB11FIP5,missense_variant,p.Ala493Ser,ENST00000486777,;RAB11FIP5,missense_variant,p.Ala493Ser,ENST00000258098,NM_015470.2;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000493523,;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000479196,;RAB11FIP5,upstream_gene_variant,,ENST00000482554,;RAB11FIP5,downstream_gene_variant,,ENST00000475951,;	A	ENST00000258098	Transcript	missense_variant	1718/4342	1477/1962	493/653	A/S	Gcc/Tcc		1		-1	RAB11FIP5	HGNC	HGNC:24845	protein_coding	YES	CCDS1923.1	ENSP00000258098	Q9BXF6		UPI000007079C	NM_015470.2	tolerated(0.68)		3/5		hmmpanther:PTHR15746:SF14,hmmpanther:PTHR15746																	MODERATE	1	SNV	1			1										PASS		rs1463924478	.												A	3	1	39	73088141	73088141	C	A	1	0	0	0	0	1	0	0	0	13055	739	26	2		2	RAB11FIP5	2	73088141	Missense_Mutation	SNP	C	C3N-00175_TP	199764	73088141	169105388	207	10357											
ALMS1	0	.	GRCh38	chr2	73450234	73450234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggacaccaactccaacctCtgcttcttactcacacacag	11	9	5	16	0	3	0	1	0	2	0	4	1	4	1	3	1	4	1	3	1	3	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3707C>T	p.Ser1236Phe	p.S1236F	ENST00000613296	8/23	261	205	56	284	284	0	strelka-varscan-mutect	ALMS1,missense_variant,p.Ser1236Phe,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Ser1194Phe,ENST00000484298,;ALMS1,missense_variant,p.Ser1236Phe,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000620466,;ALMS1,upstream_gene_variant,,ENST00000423048,;	T	ENST00000613296	Transcript	missense_variant	3818/12925	3707/12507	1236/4168	S/F	tCt/tTt		1		1	ALMS1	HGNC	HGNC:428	protein_coding	YES	CCDS42697.1	ENSP00000482968		A0A087WZY3	UPI00046209B2	NM_015120.4	tolerated(0.09)		8/23																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	73450234	73450234	C	T	1	0	0	0	0	1	0	0	0	635	913	32	3		3	ALMS1	2	73450234	Missense_Mutation	SNP	C	C3N-00175_TP	362093	73450234	168743295	208	10358											
GCFC2	0	.	GRCh38	chr2	75702340	75702340	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggaggtatgttgtacatCcaaagaaatatagtcatctt	14	12	10	5	0	2	1	1	0	1	1	3	3	3	3	1	3	1	3	1	3	6	6			C3N-00175_TP	C3N-00175_NB	C	C																c.478G>T	p.Asp160Tyr	p.D160Y	ENST00000321027	3/17	319	288	31	297	297	0	strelka-varscan-mutect	GCFC2,missense_variant,p.Asp160Tyr,ENST00000321027,NM_001201334.1,NM_003203.4;GCFC2,missense_variant,p.Asp160Tyr,ENST00000541687,;GCFC2,missense_variant,p.Asp160Tyr,ENST00000409857,;GCFC2,missense_variant,p.Asp160Tyr,ENST00000470503,NM_001201335.1;GCFC2,intron_variant,,ENST00000442309,;RP11-342K6.3,downstream_gene_variant,,ENST00000604464,;GCFC2,3_prime_UTR_variant,,ENST00000472230,;GCFC2,upstream_gene_variant,,ENST00000470197,;	A	ENST00000321027	Transcript	missense_variant	612/4440	478/2346	160/781	D/Y	Gat/Tat	COSM5632729	1		-1	GCFC2	HGNC	HGNC:1317	protein_coding	YES	CCDS1961.1	ENSP00000318690	P16383		UPI000013C96B	NM_001201334.1,NM_003203.4	deleterious(0)		3/17		hmmpanther:PTHR12214,hmmpanther:PTHR12214:SF1											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	39	75702340	75702340	C	A	1	0	0	0	0	1	0	0	0	6158	855	30	2		2	GCFC2	2	75702340	Missense_Mutation	SNP	C	C3N-00175_TP	2252106	75702340	166491189	209	10359											
DNAH6	0	.	GRCh38	chr2	84525688	84525688	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaaaaaaaagttttgccAcatcatctactcagtttctt	14	14	4	9	0	4	0	2	0	2	0	4	0	4	0	1	0	3	3	1	0	6	6	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.349A>G	p.Thr117Ala	p.T117A	ENST00000389394	3/77	138	109	29	197	197	0	strelka-varscan-mutect	DNAH6,missense_variant,p.Thr117Ala,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Thr117Ala,ENST00000237449,;DNAH6,non_coding_transcript_exon_variant,,ENST00000468661,;DNAH6,non_coding_transcript_exon_variant,,ENST00000476689,;DNAH6,intron_variant,,ENST00000494025,;	G	ENST00000389394	Transcript	missense_variant	486/12795	349/12477	117/4158	T/A	Aca/Gca		1		1	DNAH6	HGNC	HGNC:2951	protein_coding	YES	CCDS46348.1	ENSP00000374045	Q9C0G6		UPI000163AC9D	NM_001370.1	tolerated_low_confidence(0.78)		3/77		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	39	84525688	84525688	A	G	1	0	0	0	0	1	0	0	0	4420	159	6	5		5	DNAH6	2	84525688	Missense_Mutation	SNP	A	C3N-00175_TP	8823348	84525688	157667841	210	10360											
TRIM43	0	.	GRCh38	chr2	95594043	95594043	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggactcagacttctcacAtgccttccagaaggaactca	13	9	7	12	0	3	2	3	0	1	2	5	4	4	4	2	2	2	0	2	2	3	2	rs755891656		C3N-00175_TP	C3N-00175_NB	A	A																c.20A>T	p.His7Leu	p.H7L	ENST00000272395	2/7	259	190	69	273	273	0	strelka-varscan-mutect	TRIM43,missense_variant,p.His7Leu,ENST00000272395,NM_001164464.1,NM_138800.1;RP11-440D17.5,downstream_gene_variant,,ENST00000612987,;AC009237.13,upstream_gene_variant,,ENST00000441078,;	T	ENST00000272395	Transcript	missense_variant	156/1682	20/1341	7/446	H/L	cAt/cTt	rs755891656	1		1	TRIM43	HGNC	HGNC:19015	protein_coding	YES	CCDS2015.1	ENSP00000272395	Q96BQ3		UPI000006E7BB	NM_001164464.1,NM_138800.1	deleterious(0.01)		2/7		Gene3D:3.30.40.10,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF276																	MODERATE	1	SNV	1			1										PASS		rs755891656	.												T	3	4	39	95594043	95594043	A	T	1	0	0	0	0	1	0	0	0	17008	217	8	4		4	TRIM43	2	95594043	Missense_Mutation	SNP	A	C3N-00175_TP	11068355	95594043	146599486	211	10361											
ANKRD36C	0	.	GRCh38	chr2	95891683	95891683	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctcctagttttttctcCatgcttttttcctctggcta	4	20	4	13	0	3	0	0	0	3	0	6	0	4	0	4	1	1	3	4	1	2	8	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2839G>T	p.Gly947Ter	p.G947*	ENST00000456556	46/67	172	152	20	260	260	0	strelka-varscan-mutect	ANKRD36C,stop_gained,p.Gly947Ter,ENST00000456556,;ANKRD36C,stop_gained,p.Gly380Ter,ENST00000295246,;ANKRD36C,3_prime_UTR_variant,,ENST00000534304,;ANKRD36C,non_coding_transcript_exon_variant,,ENST00000531153,;	A	ENST00000456556	Transcript	stop_gained	2924/5428	2839/5337	947/1778	G/*	Gga/Tga		1		-1	ANKRD36C	HGNC	HGNC:32946	protein_coding	YES		ENSP00000403302	Q5JPF3		UPI00016620F5				46/67		hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF1																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	39	95891683	95891683	C	A	1	0	0	0	0	0	1	0	0	773	603	21	2		2	ANKRD36C	2	95891683	Nonsense_Mutation	SNP	C	C3N-00175_TP	297640	95891683	146301846	212	10362											
LMAN2L	0	.	GRCh38	chr2	96739879	96739879	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagggcttcgacagcgagtgCtcccgtttcaagtactcgaa	9	10	11	11	4	1	0	1	0	0	0	4	3	2	0	1	1	3	4	1	1	4	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.162G>A	p.=	p.E54E	ENST00000377079	1/9	338	266	72	371	371	0	strelka-varscan-mutect	LMAN2L,synonymous_variant,p.=,ENST00000264963,NM_030805.3;LMAN2L,synonymous_variant,p.=,ENST00000377079,NM_001142292.1;LMAN2L,synonymous_variant,p.=,ENST00000434524,;LMAN2L,synonymous_variant,p.=,ENST00000446780,;LMAN2L,synonymous_variant,p.=,ENST00000434865,;LMAN2L,synonymous_variant,p.=,ENST00000449221,;LMAN2L,synonymous_variant,p.=,ENST00000440610,;	T	ENST00000377079	Transcript	synonymous_variant	186/2020	162/1080	54/359	E	gaG/gaA		1		-1	LMAN2L	HGNC	HGNC:19263	protein_coding	YES	CCDS46365.1	ENSP00000366280	Q9H0V9		UPI000044099B	NM_001142292.1			1/9		PROSITE_profiles:PS51328,hmmpanther:PTHR12223,hmmpanther:PTHR12223:SF20,Gene3D:2.60.120.200,Pfam_domain:PF03388,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	96739879	96739879	C	T	1	0	0	0	0	0	0	0	1	8763	796	28	3		3	LMAN2L	2	96739879	Silent	SNP	C	C3N-00175_TP	848196	96739879	145453650	213	10363											
ANKRD36B	0	.	GRCh38	chr2	97540203	97540203	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataagagtttaattacctTcaaggctggtcgtctctgag	12	13	9	7	1	2	2	1	1	1	1	4	2	2	2	1	2	1	2	1	2	5	5	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1912A>T	p.Lys638Ter	p.K638*	ENST00000258459	29/44	140	122	18	193	193	0	strelka-varscan-mutect	ANKRD36B,stop_gained,p.Lys638Ter,ENST00000258459,NM_025190.3;ANKRD36B,stop_gained,p.Lys638Ter,ENST00000359901,;ANKRD36B,intron_variant,,ENST00000438709,;	A	ENST00000258459	Transcript	stop_gained,splice_region_variant	2192/5986	1912/4062	638/1353	K/*	Aag/Tag		1		-1	ANKRD36B	HGNC	HGNC:29333	protein_coding	YES	CCDS74543.1	ENSP00000481149	Q8N2N9		UPI000155D57B	NM_025190.3			29/44		hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF18																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	39	97540203	97540203	T	A	1	0	0	0	0	0	1	0	0	772	1797	62	4		4	ANKRD36B	2	97540203	Nonsense_Mutation	SNP	T	C3N-00175_TP	800324	97540203	144653326	214	10364											
ZAP70	0	.	GRCh38	chr2	97735263	97735263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaggaagcagatcgacGtggccatcaaggtgctgaag	11	5	16	9	3	1	2	1	1	0	1	2	4	1	3	1	4	2	3	1	4	3	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1096G>T	p.Val366Leu	p.V366L	ENST00000264972	10/14	223	209	14	234	234	0	strelka-varscan-mutect	ZAP70,missense_variant,p.Val366Leu,ENST00000264972,NM_001079.3;ZAP70,missense_variant,p.Val59Leu,ENST00000451498,NM_207519.1;ZAP70,non_coding_transcript_exon_variant,,ENST00000463643,;ZAP70,non_coding_transcript_exon_variant,,ENST00000487283,;ZAP70,non_coding_transcript_exon_variant,,ENST00000495754,;ZAP70,downstream_gene_variant,,ENST00000483781,;ZAP70,upstream_gene_variant,,ENST00000489250,;ZAP70,downstream_gene_variant,,ENST00000498836,;	T	ENST00000264972	Transcript	missense_variant	1311/2437	1096/1860	366/619	V/L	Gtg/Ttg		1		1	ZAP70	HGNC	HGNC:12858	protein_coding	YES	CCDS33254.1	ENSP00000264972	P43403		UPI000013C370	NM_001079.3	deleterious(0.02)		10/14		Gene3D:3.30.200.20,Pfam_domain:PF07714,PIRSF_domain:PIRSF000604,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF262,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs1264869571	.												T	3	4	39	97735263	97735263	G	T	1	0	0	0	0	1	0	0	0	18075	1145	40	1		1	ZAP70	2	97735263	Missense_Mutation	SNP	G	C3N-00175_TP	195060	97735263	144458266	215	10365											
CNGA3	0	.	GRCh38	chr2	98396320	98396320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatctctttgtggtcgtaGacttcttggtgggtgttctg	4	18	13	6	1	3	1	0	0	3	1	5	1	3	1	0	3	0	3	0	3	2	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1150G>T	p.Asp384Tyr	p.D384Y	ENST00000393504	8/8	106	82	24	88	88	0	strelka-varscan-mutect	CNGA3,missense_variant,p.Asp384Tyr,ENST00000393504,NM_001298.2;CNGA3,missense_variant,p.Asp384Tyr,ENST00000272602,;CNGA3,missense_variant,p.Asp388Tyr,ENST00000409937,;CNGA3,missense_variant,p.Asp366Tyr,ENST00000436404,NM_001079878.1;	T	ENST00000393504	Transcript	missense_variant	1567/3841	1150/2085	384/694	D/Y	Gac/Tac		1		1	CNGA3	HGNC	HGNC:2150	protein_coding	YES	CCDS2034.1	ENSP00000377140	Q16281		UPI000004717B	NM_001298.2	deleterious(0)		8/8		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10217:SF390,hmmpanther:PTHR10217,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	98396320	98396320	G	T	1	0	0	0	0	1	0	0	0	3378	942	33	2		2	CNGA3	2	98396320	Missense_Mutation	SNP	G	C3N-00175_TP	661057	98396320	143797209	216	10366											
IL1R2	0	.	GRCh38	chr2	102028288	102028288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactggccttcttggttttgGggggaatatggatgcacaga	8	12	14	7	0	1	1	0	0	1	1	1	3	1	3	1	6	1	2	1	6	2	5	rs748144607		C3N-00175_TP	C3N-00175_NB	G	G																c.1093G>A	p.Gly365Arg	p.G365R	ENST00000332549	9/9	90	82	8	115	115	0	strelka-varscan-mutect	IL1R2,missense_variant,p.Gly365Arg,ENST00000332549,NM_004633.3;IL1R2,missense_variant,p.Gly365Arg,ENST00000393414,;IL1R2,downstream_gene_variant,,ENST00000441002,NM_001261419.1;IL1R2,non_coding_transcript_exon_variant,,ENST00000485335,;IL1R2,non_coding_transcript_exon_variant,,ENST00000474085,;	A	ENST00000332549	Transcript	missense_variant	1322/1578	1093/1197	365/398	G/R	Ggg/Agg	rs748144607	1		1	IL1R2	HGNC	HGNC:5994	protein_coding	YES	CCDS2054.1	ENSP00000330959	P27930		UPI0000001C78	NM_004633.3	deleterious(0)		9/9		Transmembrane_helices:TMhelix,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF3,Prints_domain:PR01539																	MODERATE	1	SNV	1			1										PASS		rs748144607	.												A	3	1	39	102028288	102028288	G	A	1	0	0	0	0	1	0	0	0	7562	1232	43	3		3	IL1R2	2	102028288	Missense_Mutation	SNP	G	C3N-00175_TP	3631968	102028288	140165241	217	10367											
NPHP1	0	.	GRCh38	chr2	110164684	110164684	+	Missense_Mutation	SNP	C	C	A																															attaacaagacagaagatgcCcgcctctgaaatcgctttct																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.775G>T	p.Gly259Cys	p.G259C	ENST00000316534	8/20	441	353	88	437	436	1	strelka-varscan-mutect	NPHP1,missense_variant,p.Gly259Cys,ENST00000316534,NM_000272.3;NPHP1,missense_variant,p.Gly259Cys,ENST00000393272,NM_207181.2;NPHP1,splice_region_variant,,ENST00000445609,NM_001128178.1;NPHP1,splice_region_variant,,ENST00000417665,;NPHP1,splice_region_variant,,ENST00000355301,NM_001128179.1;NPHP1,non_coding_transcript_exon_variant,,ENST00000496524,;NPHP1,non_coding_transcript_exon_variant,,ENST00000461707,;	A	ENST00000316534	Transcript	missense_variant	849/3756	775/2202	259/733	G/C	Ggc/Tgc		1		-1	NPHP1	HGNC	HGNC:7905	protein_coding	YES	CCDS2086.1	ENSP00000313169	O15259		UPI0000358960	NM_000272.3	deleterious(0.02)		8/20		hmmpanther:PTHR15176,hmmpanther:PTHR15176:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	110164684	110164684	C	A	1	0	0	0	0	1	0	0	0	10627	637	22	2		2	NPHP1	2	110164684	Missense_Mutation	SNP	C	C3N-00175_TP	8136396	110164684	132028845	218	10368	238	2									
NPHP1	0	.	GRCh38	chr2	110164685	110164685	+	Silent	SNP	C	C	A																															ttaacaagacagaagatgccCgcctctgaaatcgctttctg																										C3N-00175_TP	C3N-00175_NB	C	C																c.774G>T	p.=	p.A258A	ENST00000316534	8/20	439	350	89	437	436	1	strelka-varscan-mutect	NPHP1,splice_region_variant,,ENST00000445609,NM_001128178.1;NPHP1,splice_region_variant,,ENST00000417665,;NPHP1,splice_region_variant,,ENST00000355301,NM_001128179.1;NPHP1,synonymous_variant,p.=,ENST00000316534,NM_000272.3;NPHP1,synonymous_variant,p.=,ENST00000393272,NM_207181.2;NPHP1,non_coding_transcript_exon_variant,,ENST00000496524,;NPHP1,non_coding_transcript_exon_variant,,ENST00000461707,;	A	ENST00000316534	Transcript	synonymous_variant	848/3756	774/2202	258/733	A	gcG/gcT	COSM4707800	1		-1	NPHP1	HGNC	HGNC:7905	protein_coding	YES	CCDS2086.1	ENSP00000313169	O15259		UPI0000358960	NM_000272.3			8/20		hmmpanther:PTHR15176,hmmpanther:PTHR15176:SF1											1						LOW	1	SNV	1		1	1										PASS		rs1365022834	.												A	2	1	39	110164685	110164685	C	A	1	0	0	0	0	0	0	0	1	10627	666	23	1		1	NPHP1	2	110164685	Silent	SNP	C	C3N-00175_TP	1	110164685	132028844	219	10369	238	2									
RGPD8	0	.	GRCh38	chr2	112389263	112389263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttgtgtctgaggcaccggCcacacctgtacctgaaccct	7	10	10	14	1	1	2	0	2	1	0	1	2	1	2	5	2	2	3	5	2	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3682G>C	p.Ala1228Pro	p.A1228P	ENST00000302558	20/23	855	707	148	731	731	0	strelka-varscan-mutect	RGPD8,missense_variant,p.Ala1228Pro,ENST00000302558,NM_001164463.1;RGPD8,missense_variant,p.Ala1088Pro,ENST00000409750,;RGPD8,downstream_gene_variant,,ENST00000330575,;RGPD8,downstream_gene_variant,,ENST00000522286,;	G	ENST00000302558	Transcript	missense_variant	3874/5576	3682/5298	1228/1765	A/P	Gcc/Ccc		1		-1	RGPD8	HGNC	HGNC:9849	protein_coding	YES	CCDS46394.1	ENSP00000306637	O14715		UPI000013E7F5	NM_001164463.1	tolerated(0.15)		20/23		hmmpanther:PTHR23138:SF86,hmmpanther:PTHR23138																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	112389263	112389263	C	G	1	0	0	0	0	1	0	0	0	13461	739	26	4		4	RGPD8	2	112389263	Missense_Mutation	SNP	C	C3N-00175_TP	2224578	112389263	129804266	220	10370											
NT5DC4	0	.	GRCh38	chr2	112724861	112724861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagccccacttctttgcagaGgggttggtcctgaggcaggt	7	10	14	10	0	1	2	0	1	1	1	2	2	2	2	3	5	2	3	3	5	1	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.792G>T	p.Glu264Asp	p.E264D	ENST00000327581	11/17	198	153	45	232	231	1	strelka-varscan-mutect	NT5DC4,missense_variant,p.Glu264Asp,ENST00000327581,;NT5DC4,non_coding_transcript_exon_variant,,ENST00000497526,;NT5DC4,upstream_gene_variant,,ENST00000491170,;NT5DC4,upstream_gene_variant,,ENST00000462854,;NT5DC4,downstream_gene_variant,,ENST00000470675,;NT5DC4,downstream_gene_variant,,ENST00000484666,;	T	ENST00000327581	Transcript	missense_variant	843/1767	792/1287	264/428	E/D	gaG/gaT		1		1	NT5DC4	HGNC	HGNC:27678	protein_coding	YES		ENSP00000330247	Q86YG4		UPI0000197313		deleterious(0.04)		11/17		hmmpanther:PTHR12103,hmmpanther:PTHR12103:SF18,Gene3D:3.40.50.1000,Pfam_domain:PF05761,PIRSF_domain:PIRSF017434,TIGRFAM_domain:TIGR02244,Superfamily_domains:SSF56784																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	112724861	112724861	G	T	1	0	0	0	0	1	0	0	0	10756	991	35	2		2	NT5DC4	2	112724861	Missense_Mutation	SNP	G	C3N-00175_TP	335598	112724861	129468668	221	10371											
IL36B	0	.	GRCh38	chr2	113026208	113026208	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagcaagtgtccttccCtatgttatcttgggagccct	6	15	8	12	0	1	0	0	0	1	0	4	1	4	1	4	1	2	2	4	1	3	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.286G>C	p.Gly96Arg	p.G96R	ENST00000259213	5/6	181	143	38	215	215	0	strelka-varscan-mutect	IL36B,missense_variant,p.Gly96Arg,ENST00000259213,NM_014438.4;IL36B,downstream_gene_variant,,ENST00000327407,NM_173178.2;	G	ENST00000259213	Transcript	missense_variant	394/1186	286/495	96/164	G/R	Ggg/Cgg		1		-1	IL36B	HGNC	HGNC:15564	protein_coding	YES	CCDS2109.1	ENSP00000259213	Q9NZH7		UPI000003C9C0	NM_014438.4	deleterious_low_confidence(0)		5/6		Gene3D:2.80.10.50,hmmpanther:PTHR10078,hmmpanther:PTHR10078:SF24,Superfamily_domains:SSF50353																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	113026208	113026208	C	G	1	0	0	0	0	1	0	0	0	7595	681	24	4		4	IL36B	2	113026208	Missense_Mutation	SNP	C	C3N-00175_TP	301347	113026208	129167321	222	10372											
IL36RN	0	.	GRCh38	chr2	113062578	113062578	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctggttcctgtgcacGgtgcctgaagccgatcagcc	5	8	14	14	3	1	1	1	1	0	0	2	2	2	1	5	3	4	3	5	3	1	1	rs28938778		C3N-00175_TP	C3N-00175_NB	G	G																c.369G>T	p.=	p.T123T	ENST00000393200	5/5	506	415	91	532	530	2	strelka-varscan-mutect	IL36RN,synonymous_variant,p.=,ENST00000393200,NM_012275.2;IL36RN,synonymous_variant,p.=,ENST00000346807,NM_173170.1;IL36RN,synonymous_variant,p.=,ENST00000514072,;IL36RN,downstream_gene_variant,,ENST00000437409,;	T	ENST00000393200	Transcript	synonymous_variant	530/2700	369/468	123/155	T	acG/acT	rs28938778,COSM5532696	1		1	IL36RN	HGNC	HGNC:15561	protein_coding	YES	CCDS2111.1	ENSP00000376896	Q9UBH0	A0A024R518	UPI0000034E98	NM_012275.2			5/5		hmmpanther:PTHR10078:SF7,hmmpanther:PTHR10078,PROSITE_patterns:PS00253,Gene3D:2.80.10.50,Pfam_domain:PF00340,SMART_domains:SM00125,Superfamily_domains:SSF50353,Prints_domain:PR01360,Prints_domain:PR00264											0,1						LOW	1	SNV	1		0,1	1										PASS		rs28938778	.												T	2	4	39	113062578	113062578	G	T	1	0	0	0	0	0	0	0	1	7597	1103	39	1		1	IL36RN	2	113062578	Silent	SNP	G	C3N-00175_TP	36370	113062578	129130951	223	10373											
CNTNAP5	0	.	GRCh38	chr2	124242317	124242317	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatacggaagctctgactGggtgacgagttacagcctga	12	8	13	8	2	1	4	0	3	1	1	1	6	1	5	1	2	4	2	1	2	4	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.305G>A	p.Trp102Ter	p.W102*	ENST00000431078	3/24	223	205	18	218	218	0	strelka-varscan-mutect	CNTNAP5,stop_gained,p.Trp102Ter,ENST00000431078,NM_130773.3;CNTNAP5,non_coding_transcript_exon_variant,,ENST00000470921,;	A	ENST00000431078	Transcript	stop_gained	669/5284	305/3921	102/1306	W/*	tGg/tAg		1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3			3/24		PROSITE_profiles:PS50022,Gene3D:2.60.120.260,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	124242317	124242317	G	A	1	0	0	0	0	0	1	0	0	3432	1357	47	3		3	CNTNAP5	2	124242317	Nonsense_Mutation	SNP	G	C3N-00175_TP	11179739	124242317	117951212	224	10374											
CNTNAP5	0	.	GRCh38	chr2	124789908	124789908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttaacctcttagggggaaCgtcatccagacagaaaggct	13	9	10	9	1	2	2	1	0	1	2	3	3	3	3	2	3	2	1	2	3	4	3	rs774125649		C3N-00175_TP	C3N-00175_NB	C	C																c.2756C>A	p.Thr919Lys	p.T919K	ENST00000431078	18/24	90	63	27	137	137	0	strelka-varscan-mutect	CNTNAP5,missense_variant,p.Thr919Lys,ENST00000431078,NM_130773.3;	A	ENST00000431078	Transcript	missense_variant	3120/5284	2756/3921	919/1306	T/K	aCg/aAg	rs774125649	1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3	deleterious(0.01)		18/24		PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF665,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs774125649	.												A	3	1	39	124789908	124789908	C	A	1	0	0	0	0	1	0	0	0	3432	536	19	1		1	CNTNAP5	2	124789908	Missense_Mutation	SNP	C	C3N-00175_TP	547591	124789908	117403621	225	10375											
ERCC3	0	.	GRCh38	chr2	127280600	127280600	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagcttacagtgggcctgCacgatggtgagcacccttcg	7	8	12	14	2	0	1	0	1	0	0	1	2	0	1	3	2	4	3	3	2	1	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1374G>T	p.=	p.V458V	ENST00000285398	9/15	244	224	20	318	318	0	strelka-varscan-mutect	ERCC3,synonymous_variant,p.=,ENST00000285398,NM_001303416.1,NM_000122.1,NM_001303418.1;ERCC3,3_prime_UTR_variant,,ENST00000445889,;ERCC3,3_prime_UTR_variant,,ENST00000426778,;	A	ENST00000285398	Transcript	synonymous_variant	1469/2750	1374/2349	458/782	V	gtG/gtT		1		-1	ERCC3	HGNC	HGNC:3435	protein_coding	YES	CCDS2144.1	ENSP00000285398	P19447		UPI000013900E	NM_001303416.1,NM_000122.1,NM_001303418.1			9/15		Gene3D:3.40.50.300,Pfam_domain:PF04851,PROSITE_profiles:PS51192,hmmpanther:PTHR11274,hmmpanther:PTHR11274:SF0,SMART_domains:SM00487,Superfamily_domains:SSF52540,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00603																	LOW	1	SNV	1			1										PASS		rs1184073978	.												A	2	1	39	127280600	127280600	C	A	1	0	0	0	0	0	0	0	1	5063	697	25	2		2	ERCC3	2	127280600	Silent	SNP	C	C3N-00175_TP	2490692	127280600	114912929	226	10376											
LIMS2	0	.	GRCh38	chr2	127657443	127657443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaagggccggaagcactggGcacacacgaagcagtgctca	12	3	15	11	2	1	0	1	0	0	0	1	3	1	2	1	4	3	4	1	4	3	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.203C>A	p.Ala68Asp	p.A68D	ENST00000324938	2/10	179	161	18	203	203	0	strelka-varscan-mutect	LIMS2,missense_variant,p.Ala39Asp,ENST00000409455,;LIMS2,missense_variant,p.Ala39Asp,ENST00000410011,NM_001161404.1;LIMS2,missense_variant,p.Ala39Asp,ENST00000409808,;LIMS2,missense_variant,p.Ala68Asp,ENST00000324938,NM_017980.4;LIMS2,missense_variant,p.Ala44Asp,ENST00000355119,NM_001161403.1;LIMS2,missense_variant,p.Ala66Asp,ENST00000545738,NM_001136037.2;GPR17,downstream_gene_variant,,ENST00000544369,NM_001161415.1;GPR17,downstream_gene_variant,,ENST00000272644,NM_005291.2;GPR17,downstream_gene_variant,,ENST00000486700,;LIMS2,non_coding_transcript_exon_variant,,ENST00000466410,;LIMS2,non_coding_transcript_exon_variant,,ENST00000476932,;LIMS2,upstream_gene_variant,,ENST00000469300,;	T	ENST00000324938	Transcript	missense_variant	361/2111	203/1098	68/365	A/D	gCc/gAc		1		-1	LIMS2	HGNC	HGNC:16084	protein_coding	YES	CCDS2147.1	ENSP00000326888	Q7Z4I7		UPI00001B5BF3	NM_017980.4	deleterious(0)		2/10		PROSITE_profiles:PS50023,hmmpanther:PTHR24210:SF10,hmmpanther:PTHR24210,PROSITE_patterns:PS00478,Gene3D:2.10.110.10,Pfam_domain:PF00412,PIRSF_domain:PIRSF038003,SMART_domains:SM00132,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	127657443	127657443	G	T	1	0	0	0	0	1	0	0	0	8712	1203	42	2		2	LIMS2	2	127657443	Missense_Mutation	SNP	G	C3N-00175_TP	376843	127657443	114536086	227	10377											
CFC1	0	.	GRCh38	chr2	130598745	130598745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccagttgagcggtgaCtgtcggtgcttctgagtggc	5	11	17	8	2	1	3	0	3	1	0	3	4	2	3	1	4	2	2	1	4	0	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.144G>C	p.Gln48His	p.Q48H	ENST00000259216	3/6	174	164	10	176	176	0	varscan-mutect	CFC1,missense_variant,p.Gln48His,ENST00000615342,NM_001270420.1;CFC1,missense_variant,p.Gln48His,ENST00000621673,NM_001270421.1;CFC1,missense_variant,p.Gln48His,ENST00000259216,NM_032545.3;Metazoa_SRP,upstream_gene_variant,,ENST00000621608,;	G	ENST00000259216	Transcript	missense_variant	407/1046	144/672	48/223	Q/H	caG/caC		1		-1	CFC1	HGNC	HGNC:18292	protein_coding	YES	CCDS2162.1	ENSP00000259216	P0CG37		UPI0000070FF1	NM_032545.3	deleterious(0.02)		3/6		hmmpanther:PTHR14949,hmmpanther:PTHR14949:SF25																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	130598745	130598745	C	G	1	0	0	0	0	1	0	0	0	3038	564	20	4		4	CFC1	2	130598745	Missense_Mutation	SNP	C	C3N-00175_TP	2941302	130598745	111594784	228	10378											
AMER3	0	.	GRCh38	chr2	130763340	130763340	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacagtggggacgccctctAcgagctcttccacgacccca	8	7	9	17	3	2	0	0	0	2	0	3	3	3	1	4	2	3	1	4	2	2	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1268A>T	p.Tyr423Phe	p.Y423F	ENST00000423981	2/2	137	101	36	206	206	0	strelka-varscan-mutect	AMER3,missense_variant,p.Tyr423Phe,ENST00000423981,NM_001105193.1,NM_001105195.1,NM_001105194.1;AMER3,missense_variant,p.Tyr423Phe,ENST00000321420,NM_152698.2;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	T	ENST00000423981	Transcript	missense_variant	1378/6172	1268/2586	423/861	Y/F	tAc/tTc		1		1	AMER3	HGNC	HGNC:26771	protein_coding	YES	CCDS2164.1	ENSP00000392700	Q8N944		UPI0000D61239	NM_001105193.1,NM_001105195.1,NM_001105194.1	deleterious(0.02)		2/2		hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2,Pfam_domain:PF09422																	MODERATE	1	SNV	4			1										PASS		.	.												T	3	4	39	130763340	130763340	A	T	1	0	0	0	0	1	0	0	0	669	391	14	4		4	AMER3	2	130763340	Missense_Mutation	SNP	A	C3N-00175_TP	164595	130763340	111430189	229	10379											
LCT	0	.	GRCh38	chr2	135817716	135817716	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacacctgagcccggaggccGcaaagcagggcgacgtcaga	11	3	14	13	4	1	2	1	1	0	1	1	4	1	3	3	3	3	2	3	3	2	1	rs370939537		C3N-00175_TP	C3N-00175_NB	G	G																c.1332C>G	p.Cys444Trp	p.C444W	ENST00000264162	6/17	273	206	67	306	306	0	strelka-varscan-mutect	LCT,missense_variant,p.Cys444Trp,ENST00000264162,NM_002299.2;AC011893.3,upstream_gene_variant,,ENST00000437007,;LCT,upstream_gene_variant,,ENST00000452974,;	C	ENST00000264162	Transcript	missense_variant	1343/6279	1332/5784	444/1927	C/W	tgC/tgG	rs370939537	1		-1	LCT	HGNC	HGNC:6530	protein_coding	YES	CCDS2178.1	ENSP00000264162	P09848		UPI000013D4D2	NM_002299.2	deleterious(0)		6/17		Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		rs370939537	.												C	3	2	39	135817716	135817716	G	C	1	0	0	0	0	1	0	0	0	8599	1079	38	4		4	LCT	2	135817716	Missense_Mutation	SNP	G	C3N-00175_TP	5054376	135817716	106375813	230	10380											
NXPH2	0	.	GRCh38	chr2	138671381	138671381	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaaagtcaccccatccAaacattttcttaaattttcc	14	13	3	11	0	2	1	1	1	1	0	4	2	4	1	4	0	1	0	4	0	5	5	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.336T>A	p.Phe112Leu	p.F112L	ENST00000272641	2/2	152	118	34	185	185	0	strelka-varscan-mutect	NXPH2,missense_variant,p.Phe112Leu,ENST00000272641,NM_007226.2;	T	ENST00000272641	Transcript	missense_variant	443/1052	336/795	112/264	F/L	ttT/ttA		1		-1	NXPH2	HGNC	HGNC:8076	protein_coding	YES	CCDS46421.1	ENSP00000272641	O95156		UPI000023FCD4	NM_007226.2	tolerated(0.06)		2/2		Pfam_domain:PF06312,PIRSF_domain:PIRSF038019,hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	138671381	138671381	A	T	1	0	0	0	0	1	0	0	0	10867	127	5	4		4	NXPH2	2	138671381	Missense_Mutation	SNP	A	C3N-00175_TP	2853665	138671381	103522148	231	10381											
LRP1B	0	.	GRCh38	chr2	140322034	140322034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacacacacaagtggccccaGaaggatttagcaagcaaaga	17	4	10	10	0	0	2	0	0	0	2	0	4	0	3	2	2	2	2	2	2	5	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.12569C>T	p.Ser4190Phe	p.S4190F	ENST00000389484	82/91	139	121	18	200	200	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Ser4190Phe,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Ser422Phe,ENST00000437977,;	A	ENST00000389484	Transcript	missense_variant	13541/16535	12569/13800	4190/4599	S/F	tCt/tTt		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(0.09)		82/91		SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	140322034	140322034	G	A	1	0	0	0	0	1	0	0	0	8850	942	33	3		3	LRP1B	2	140322034	Missense_Mutation	SNP	G	C3N-00175_TP	1650653	140322034	101871495	232	10382											
LRP1B	0	.	GRCh38	chr2	140536696	140536696	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactccgaataagcgttgcaGgaggaatttttagctgcaag	13	10	11	7	2	0	0	0	0	0	0	1	3	1	2	1	2	5	4	1	2	6	5	rs754074138		C3N-00175_TP	C3N-00175_NB	G	G																c.7527C>A	p.=	p.S2509S	ENST00000389484	46/91	113	80	33	143	143	0	strelka-varscan-mutect	LRP1B,synonymous_variant,p.=,ENST00000389484,NM_018557.2;	T	ENST00000389484	Transcript	synonymous_variant	8499/16535	7527/13800	2509/4599	S	tcC/tcA	rs754074138	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2			46/91		PROSITE_profiles:PS50068,Pfam_domain:PF00057,Gene3D:2.10.25.10,SMART_domains:SM00192																	LOW	1	SNV	1			1										PASS		rs754074138	.												T	2	4	39	140536696	140536696	G	T	1	0	0	0	0	0	0	0	1	8850	987	35	2		2	LRP1B	2	140536696	Silent	SNP	G	C3N-00175_TP	214662	140536696	101656833	233	10383											
LRP1B	0	.	GRCh38	chr2	140951914	140951914	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacttttgcatacgaattGggttagtggctcacaagttg	9	14	10	8	1	1	0	1	0	0	0	2	1	2	0	1	2	2	4	1	2	4	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2914C>G	p.Gln972Glu	p.Q972E	ENST00000389484	19/91	133	124	9	120	120	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Gln972Glu,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Gln117Glu,ENST00000434794,;	C	ENST00000389484	Transcript	missense_variant	3886/16535	2914/13800	972/4599	Q/E	Caa/Gaa		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(0.15)		19/91		PROSITE_profiles:PS50068,hmmpanther:PTHR10529:SF105,hmmpanther:PTHR10529,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	140951914	140951914	G	C	1	0	0	0	0	1	0	0	0	8850	1357	47	4		4	LRP1B	2	140951914	Missense_Mutation	SNP	G	C3N-00175_TP	415218	140951914	101241615	234	10384											
LRP1B	0	.	GRCh38	chr2	141055137	141055137	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgcatgacctgccatcacTtcccaagttgaagccagtcc	9	11	7	14	0	1	2	1	2	0	0	3	2	3	2	5	0	3	2	5	0	2	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1531A>T	p.Ser511Cys	p.S511C	ENST00000389484	10/91	152	132	20	185	185	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Ser511Cys,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	A	ENST00000389484	Transcript	missense_variant	2503/16535	1531/13800	511/4599	S/C	Agt/Tgt		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0.01)		10/91		PROSITE_patterns:PS01186,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	141055137	141055137	T	A	1	0	0	0	0	1	0	0	0	8850	1609	56	4		4	LRP1B	2	141055137	Missense_Mutation	SNP	T	C3N-00175_TP	103223	141055137	101138392	235	10385											
NEB	0	.	GRCh38	chr2	151565818	151565818	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtcagctctgtagacAttctgagagcaggaagagag	12	8	13	8	0	3	3	1	1	2	3	4	6	4	4	1	2	2	3	1	2	2	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.18159T>A	p.Asn6053Lys	p.N6053K	ENST00000618972	115/183	110	70	40	99	99	0	strelka-varscan-mutect	NEB,missense_variant,p.Asn6053Lys,ENST00000618972,NM_001271208.1;NEB,missense_variant,p.Asn6053Lys,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Asn6053Lys,ENST00000427231,NM_001164507.1;NEB,missense_variant,p.Asn6053Lys,ENST00000603639,;NEB,missense_variant,p.Asn6053Lys,ENST00000604864,;NEB,missense_variant,p.Asn4352Lys,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Asn4352Lys,ENST00000172853,;NEB,missense_variant,p.Asn783Lys,ENST00000413693,;	T	ENST00000618972	Transcript	missense_variant,splice_region_variant	18362/26307	18159/25683	6053/8560	N/K	aaT/aaA		1		-1	NEB	HGNC	HGNC:7720	protein_coding	YES	CCDS74588.1	ENSP00000484342		A0A087X1N7	UPI0004E4CCB0	NM_001271208.1	tolerated(0.19)		115/183		PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,SMART_domains:SM00227																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	151565818	151565818	A	T	1	0	0	0	0	1	0	0	0	10326	231	8	4		4	NEB	2	151565818	Missense_Mutation	SNP	A	C3N-00175_TP	10510681	151565818	90627711	236	10386											
CACNB4	0	.	GRCh38	chr2	151869224	151869224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagagggctttctgcatCatgtctgttacctttgcaga	9	14	9	9	0	4	2	2	0	2	2	4	2	4	2	1	1	3	4	1	1	2	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.711G>T	p.Met237Ile	p.M237I	ENST00000539935	9/14	134	124	10	147	147	0	strelka-varscan-mutect	CACNB4,missense_variant,p.Met237Ile,ENST00000539935,NM_000726.3;CACNB4,missense_variant,p.Met190Ile,ENST00000637217,NM_001320722.1;CACNB4,missense_variant,p.Met190Ile,ENST00000636598,;CACNB4,missense_variant,p.Met190Ile,ENST00000636130,;CACNB4,missense_variant,p.Met203Ile,ENST00000636901,;CACNB4,missense_variant,p.Met162Ile,ENST00000636350,;CACNB4,missense_variant,p.Met237Ile,ENST00000637309,;CACNB4,missense_variant,p.Met219Ile,ENST00000638005,NM_001005746.2;CACNB4,missense_variant,p.Met178Ile,ENST00000636442,;CACNB4,missense_variant,p.Met190Ile,ENST00000636773,;CACNB4,missense_variant,p.Met203Ile,ENST00000638091,;CACNB4,missense_variant,p.Met207Ile,ENST00000637762,;CACNB4,missense_variant,p.Met51Ile,ENST00000637284,;CACNB4,missense_variant,p.Met203Ile,ENST00000534999,NM_001005747.2;CACNB4,missense_variant,p.Met190Ile,ENST00000439467,;CACNB4,missense_variant,p.Met190Ile,ENST00000397327,;CACNB4,missense_variant,p.Met162Ile,ENST00000637418,;CACNB4,missense_variant,p.Met51Ile,ENST00000637514,;CACNB4,missense_variant,p.Met196Ile,ENST00000427385,;CACNB4,missense_variant,p.Met237Ile,ENST00000201943,NM_001145798.1;CACNB4,missense_variant,p.Met203Ile,ENST00000637216,;CACNB4,3_prime_UTR_variant,,ENST00000636947,;CACNB4,3_prime_UTR_variant,,ENST00000636129,;CACNB4,intron_variant,,ENST00000637547,;CACNB4,intron_variant,,ENST00000636617,;CACNB4,intron_variant,,ENST00000636785,;CACNB4,intron_variant,,ENST00000638040,;CACNB4,intron_variant,,ENST00000360283,;CACNB4,intron_variant,,ENST00000637779,;CACNB4,intron_variant,,ENST00000636380,;CACNB4,intron_variant,,ENST00000636108,;CACNB4,intron_variant,,ENST00000636721,;CACNB4,downstream_gene_variant,,ENST00000434468,;CACNB4,downstream_gene_variant,,ENST00000638056,;CACNB4,non_coding_transcript_exon_variant,,ENST00000637913,;CACNB4,intron_variant,,ENST00000635803,;CACNB4,downstream_gene_variant,,ENST00000635743,;CACNB4,missense_variant,p.Asp197Tyr,ENST00000637312,;CACNB4,missense_variant,p.Met190Ile,ENST00000637828,;CACNB4,3_prime_UTR_variant,,ENST00000637436,;CACNB4,3_prime_UTR_variant,,ENST00000636762,;CTD-2021K4.1,3_prime_UTR_variant,,ENST00000637224,;CACNB4,3_prime_UTR_variant,,ENST00000635904,;CACNB4,3_prime_UTR_variant,,ENST00000637330,;CACNB4,non_coding_transcript_exon_variant,,ENST00000637884,;CACNB4,non_coding_transcript_exon_variant,,ENST00000637622,;CACNB4,non_coding_transcript_exon_variant,,ENST00000636834,;CACNB4,non_coding_transcript_exon_variant,,ENST00000470066,;CACNB4,non_coding_transcript_exon_variant,,ENST00000636810,;CACNB4,non_coding_transcript_exon_variant,,ENST00000637319,;CACNB4,non_coding_transcript_exon_variant,,ENST00000637773,;CACNB4,non_coding_transcript_exon_variant,,ENST00000637530,;CACNB4,non_coding_transcript_exon_variant,,ENST00000637765,;CACNB4,intron_variant,,ENST00000636831,;CACNB4,intron_variant,,ENST00000635738,;CACNB4,intron_variant,,ENST00000636507,;CACNB4,intron_variant,,ENST00000635930,;CACNB4,intron_variant,,ENST00000637232,;CACNB4,intron_variant,,ENST00000637132,;CACNB4,intron_variant,,ENST00000637550,;CACNB4,intron_variant,,ENST00000637491,;CACNB4,intron_variant,,ENST00000637535,;CACNB4,intron_variant,,ENST00000636664,;CACNB4,intron_variant,,ENST00000638150,;CACNB4,intron_variant,,ENST00000637956,;CTD-2021K4.1,intron_variant,,ENST00000637559,;CACNB4,intron_variant,,ENST00000637007,;CACNB4,intron_variant,,ENST00000636390,;	A	ENST00000539935	Transcript	missense_variant	1175/8378	711/1563	237/520	M/I	atG/atT		1		-1	CACNB4	HGNC	HGNC:1404	protein_coding	YES	CCDS46426.1	ENSP00000438949	O00305		UPI0000208F1E	NM_000726.3	deleterious(0)		9/14		Gene3D:3.40.50.300,Pfam_domain:PF00625,Prints_domain:PR01626,hmmpanther:PTHR11824,hmmpanther:PTHR11824:SF7,SMART_domains:SM00072,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	151869224	151869224	C	A	1	0	0	0	0	1	0	0	0	2243	826	29	2		2	CACNB4	2	151869224	Missense_Mutation	SNP	C	C3N-00175_TP	303406	151869224	90324305	237	10387											
CACNB4	0	.	GRCh38	chr2	151870433	151870433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcactggcttccatcaGgacccacgtggaaacagacc	11	6	10	14	1	1	2	1	1	0	1	2	4	2	4	3	3	2	2	3	3	1	1	rs762188629		C3N-00175_TP	C3N-00175_NB	G	G																c.695C>T	p.Pro232Leu	p.P232L	ENST00000636947	7/7	274	244	30	349	349	0	strelka-varscan-mutect	CACNB4,missense_variant,p.Pro232Leu,ENST00000636947,;CACNB4,missense_variant,p.Pro248Leu,ENST00000636129,;CACNB4,3_prime_UTR_variant,,ENST00000638056,;CACNB4,intron_variant,,ENST00000539935,NM_000726.3;CACNB4,intron_variant,,ENST00000637217,NM_001320722.1;CACNB4,intron_variant,,ENST00000636598,;CACNB4,intron_variant,,ENST00000636130,;CACNB4,intron_variant,,ENST00000636901,;CACNB4,intron_variant,,ENST00000637547,;CACNB4,intron_variant,,ENST00000636350,;CACNB4,intron_variant,,ENST00000637309,;CACNB4,intron_variant,,ENST00000636617,;CACNB4,intron_variant,,ENST00000638005,NM_001005746.2;CACNB4,intron_variant,,ENST00000636442,;CACNB4,intron_variant,,ENST00000636773,;CACNB4,intron_variant,,ENST00000638091,;CACNB4,intron_variant,,ENST00000637762,;CACNB4,intron_variant,,ENST00000636785,;CACNB4,intron_variant,,ENST00000637284,;CACNB4,intron_variant,,ENST00000534999,NM_001005747.2;CACNB4,intron_variant,,ENST00000439467,;CACNB4,intron_variant,,ENST00000397327,;CACNB4,intron_variant,,ENST00000638040,;CACNB4,intron_variant,,ENST00000637418,;CACNB4,intron_variant,,ENST00000360283,;CACNB4,intron_variant,,ENST00000637514,;CACNB4,intron_variant,,ENST00000427385,;CACNB4,intron_variant,,ENST00000637779,;CACNB4,intron_variant,,ENST00000636380,;CACNB4,intron_variant,,ENST00000636108,;CACNB4,intron_variant,,ENST00000636721,;CACNB4,intron_variant,,ENST00000201943,NM_001145798.1;CACNB4,intron_variant,,ENST00000637216,;CACNB4,downstream_gene_variant,,ENST00000434468,;CACNB4,intron_variant,,ENST00000635803,;CACNB4,intron_variant,,ENST00000637913,;CACNB4,downstream_gene_variant,,ENST00000635743,;CACNB4,non_coding_transcript_exon_variant,,ENST00000637884,;CACNB4,non_coding_transcript_exon_variant,,ENST00000636834,;CACNB4,non_coding_transcript_exon_variant,,ENST00000637319,;CACNB4,non_coding_transcript_exon_variant,,ENST00000637530,;CACNB4,non_coding_transcript_exon_variant,,ENST00000637765,;CACNB4,intron_variant,,ENST00000636831,;CACNB4,intron_variant,,ENST00000635738,;CACNB4,intron_variant,,ENST00000637622,;CACNB4,intron_variant,,ENST00000636507,;CACNB4,intron_variant,,ENST00000635930,;CACNB4,intron_variant,,ENST00000470066,;CACNB4,intron_variant,,ENST00000637232,;CACNB4,intron_variant,,ENST00000637132,;CACNB4,intron_variant,,ENST00000636810,;CACNB4,intron_variant,,ENST00000637436,;CACNB4,intron_variant,,ENST00000637312,;CACNB4,intron_variant,,ENST00000636762,;CACNB4,intron_variant,,ENST00000637773,;CACNB4,intron_variant,,ENST00000637550,;CTD-2021K4.1,intron_variant,,ENST00000637224,;CACNB4,intron_variant,,ENST00000635904,;CACNB4,intron_variant,,ENST00000637330,;CACNB4,intron_variant,,ENST00000637828,;CACNB4,intron_variant,,ENST00000637491,;CACNB4,intron_variant,,ENST00000637535,;CACNB4,intron_variant,,ENST00000636664,;CACNB4,intron_variant,,ENST00000638150,;CACNB4,intron_variant,,ENST00000637956,;CTD-2021K4.1,intron_variant,,ENST00000637559,;CACNB4,intron_variant,,ENST00000637007,;CACNB4,intron_variant,,ENST00000636390,;	A	ENST00000636947	Transcript	missense_variant	929/5575	695/924	232/307	P/L	cCt/cTt	rs762188629	1		-1	CACNB4	HGNC	HGNC:1404	protein_coding			ENSP00000490337			UPI0000E5A28D		tolerated_low_confidence(0.54)		7/7																			MODERATE		SNV				1										PASS		rs762188629	.												A	3	1	39	151870433	151870433	G	A	1	0	0	0	0	1	0	0	0	2243	1000	35	3		3	CACNB4	2	151870433	Missense_Mutation	SNP	G	C3N-00175_TP	1209	151870433	90323096	238	10388											
BAZ2B	0	.	GRCh38	chr2	159431148	159431148	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtatctgattctgaattacTatctgattctgggaagtaaa	12	16	8	5	0	4	3	0	3	4	0	4	4	4	4	0	1	1	2	0	1	7	6	rs760395340		C3N-00175_TP	C3N-00175_NB	T	T																c.1909A>T	p.Ser637Cys	p.S637C	ENST00000392783	10/37	60	44	16	65	65	0	strelka-varscan-mutect	BAZ2B,missense_variant,p.Ser637Cys,ENST00000392783,NM_013450.3;BAZ2B,missense_variant,p.Ser635Cys,ENST00000392782,NM_001289975.1;BAZ2B,intron_variant,,ENST00000343439,;BAZ2B,intron_variant,,ENST00000441143,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000472953,;	A	ENST00000392783	Transcript	missense_variant	2405/8289	1909/6507	637/2168	S/C	Agt/Tgt	rs760395340	1		-1	BAZ2B	HGNC	HGNC:963	protein_coding	YES	CCDS2209.2	ENSP00000376534	Q9UIF8		UPI0000D74C4A	NM_013450.3	deleterious(0)		10/37		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF154,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs760395340	.												A	3	1	39	159431148	159431148	T	A	1	0	0	0	0	1	0	0	0	1477	1522	53	4		4	BAZ2B	2	159431148	Missense_Mutation	SNP	T	C3N-00175_TP	7560715	159431148	82762381	239	10389											
KCNH7	0	.	GRCh38	chr2	162400226	162400226	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatctttgagaatttcAatggagcctctggataagaa	13	13	9	6	0	4	2	2	1	2	2	4	5	4	4	1	2	1	0	1	2	4	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2370T>A	p.=	p.I790I	ENST00000332142	10/16	162	113	49	226	226	0	strelka-varscan-mutect	KCNH7,synonymous_variant,p.=,ENST00000332142,NM_033272.3;KCNH7,synonymous_variant,p.=,ENST00000618399,;	T	ENST00000332142	Transcript	synonymous_variant	2470/4113	2370/3591	790/1196	I	atT/atA		1		-1	KCNH7	HGNC	HGNC:18863	protein_coding	YES	CCDS2219.1	ENSP00000331727	Q9NS40		UPI0000167D11	NM_033272.3			10/16		PROSITE_profiles:PS50042,hmmpanther:PTHR10217:SF466,hmmpanther:PTHR10217,Pfam_domain:PF00027,Gene3D:2.60.120.10,SMART_domains:SM00100,Superfamily_domains:SSF51206																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	162400226	162400226	A	T	1	0	0	0	0	0	0	0	1	7953	126	5	4		4	KCNH7	2	162400226	Silent	SNP	A	C3N-00175_TP	2969078	162400226	79793303	240	10390											
SCN1A	0	.	GRCh38	chr2	166036370	166036370	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttcctaatgaaggacTgttgaataaattcatatatt	13	18	6	4	0	1	2	1	2	0	0	2	3	2	3	1	1	0	2	1	1	7	9	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.3107A>T	p.Gln1036Leu	p.Q1036L	ENST00000303395	18/28	40	36	4	59	59	0	strelka-varscan-mutect	SCN1A,missense_variant,p.Gln1025Leu,ENST00000635776,;SCN1A,missense_variant,p.Gln1025Leu,ENST00000637988,;SCN1A,missense_variant,p.Gln1036Leu,ENST00000303395,NM_001202435.1,NM_001165963.1;SCN1A,missense_variant,p.Gln1025Leu,ENST00000635750,;SCN1A,missense_variant,p.Gln1036Leu,ENST00000423058,;SCN1A,missense_variant,p.Gln1025Leu,ENST00000375405,NM_006920.4;SCN1A,missense_variant,p.Gln1008Leu,ENST00000409050,NM_001165964.1;AC010127.3,non_coding_transcript_exon_variant,,ENST00000597623,;AC010127.3,intron_variant,,ENST00000629609,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000628933,;AC010127.3,intron_variant,,ENST00000627027,;AC010127.3,intron_variant,,ENST00000630226,;AC010127.3,intron_variant,,ENST00000595268,;SCN1A,3_prime_UTR_variant,,ENST00000636194,;SCN1A,non_coding_transcript_exon_variant,,ENST00000637968,;SCN1A,upstream_gene_variant,,ENST00000637038,;SCN1A,downstream_gene_variant,,ENST00000636759,;	A	ENST00000303395	Transcript	missense_variant	3525/8533	3107/6030	1036/2009	Q/L	cAg/cTg		1		-1	SCN1A	HGNC	HGNC:10585	protein_coding	YES	CCDS54413.1	ENSP00000303540	P35498		UPI000003C71D	NM_001202435.1,NM_001165963.1	tolerated(0.12)		18/28		Pfam_domain:PF06512,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF220																	MODERATE	1	SNV	5			1										PASS		rs1440794053	.												A	3	1	39	166036370	166036370	T	A	1	0	0	0	0	1	0	0	0	14183	1580	55	4		4	SCN1A	2	166036370	Missense_Mutation	SNP	T	C3N-00175_TP	3636144	166036370	76157159	241	10391											
XIRP2	0	.	GRCh38	chr2	167243385	167243385	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaacaaggccattggacTcaatgaataaaatgcatcaa	18	9	7	7	0	2	2	2	2	0	0	2	3	2	3	1	2	2	1	1	2	7	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1993T>A	p.Ser665Thr	p.S665T	ENST00000409195	9/11	225	207	18	301	301	0	strelka-varscan-mutect	XIRP2,missense_variant,p.Ser665Thr,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Ser443Thr,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Ser490Thr,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	A	ENST00000409195	Transcript	missense_variant	2082/12675	1993/10650	665/3549	S/T	Tca/Aca		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	tolerated(0.22)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	167243385	167243385	T	A	1	0	0	0	0	1	0	0	0	17989	1551	54	4		4	XIRP2	2	167243385	Missense_Mutation	SNP	T	C3N-00175_TP	1207015	167243385	74950144	242	10392											
XIRP2	0	.	GRCh38	chr2	167248474	167248474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgaaagagaaagttcatCgatgtttctgccgcctcctc	10	12	8	11	2	3	2	1	1	2	1	6	4	4	2	3	0	1	2	3	0	2	2			C3N-00175_TP	C3N-00175_NB	C	C																c.7082C>T	p.Ser2361Leu	p.S2361L	ENST00000409195	9/11	186	133	53	201	201	0	strelka-varscan-mutect	XIRP2,missense_variant,p.Ser2361Leu,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Ser2139Leu,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Ser2186Leu,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	T	ENST00000409195	Transcript	missense_variant	7171/12675	7082/10650	2361/3549	S/L	tCg/tTg	COSM3425420	1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious_low_confidence(0.01)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	39	167248474	167248474	C	T	1	0	0	0	0	1	0	0	0	17989	893	31	1		1	XIRP2	2	167248474	Missense_Mutation	SNP	C	C3N-00175_TP	5089	167248474	74945055	243	10393											
XIRP2	0	.	GRCh38	chr2	167250027	167250027	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaaatacagaccgctgaaAgtaaagctgaacataaaaaa	22	5	6	8	1	0	3	0	2	0	1	0	3	0	3	1	0	3	3	1	0	9	3			C3N-00175_TP	C3N-00175_NB	A	A																c.8635A>T	p.Ser2879Cys	p.S2879C	ENST00000409195	9/11	232	210	22	297	297	0	strelka-varscan-mutect	XIRP2,missense_variant,p.Ser2879Cys,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Ser2657Cys,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Ser2704Cys,ENST00000628543,;XIRP2,missense_variant,p.Ser293Cys,ENST00000295237,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	T	ENST00000409195	Transcript	missense_variant	8724/12675	8635/10650	2879/3549	S/C	Agt/Tgt	COSM716886	1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious(0.05)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	39	167250027	167250027	A	T	1	0	0	0	0	1	0	0	0	17989	72	3	4		4	XIRP2	2	167250027	Missense_Mutation	SNP	A	C3N-00175_TP	1553	167250027	74943502	244	10394											
EVX2	0	.	GRCh38	chr2	176083377	176083377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgttttccttaagctgagCggcgccgaggcccccggggg	5	9	15	12	4	0	1	0	1	0	0	1	2	1	1	4	4	2	2	4	4	1	4			C3N-00175_TP	C3N-00175_NB	C	C																c.400G>A	p.Ala134Thr	p.A134T	ENST00000308618	1/3	138	119	19	204	204	0	strelka-varscan-mutect	EVX2,missense_variant,p.Ala134Thr,ENST00000308618,NM_001080458.1;	T	ENST00000308618	Transcript	missense_variant	537/4203	400/1431	134/476	A/T	Gct/Act	COSM4681953	1		-1	EVX2	HGNC	HGNC:3507	protein_coding	YES	CCDS33333.1	ENSP00000312385	Q03828		UPI000012A2AF	NM_001080458.1	tolerated(0.22)		1/3													1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	39	176083377	176083377	C	T	1	0	0	0	0	1	0	0	0	5162	768	27	1		1	EVX2	2	176083377	Missense_Mutation	SNP	C	C3N-00175_TP	8833350	176083377	66110152	245	10395											
TTN	0	.	GRCh38	chr2	178712136	178712136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggataccccaatttcagGggttccagcaagctggcatt	10	9	10	12	0	1	0	1	0	0	0	2	1	2	1	4	4	3	4	4	4	3	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.27694C>A	p.Pro9232Thr	p.P9232T	ENST00000589042	96/363	149	101	48	167	167	0	strelka-varscan-mutect	TTN,missense_variant,p.Pro9232Thr,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Pro8915Thr,ENST00000591111,;TTN,missense_variant,p.Pro8915Thr,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Pro7988Thr,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;	T	ENST00000589042	Transcript	missense_variant	27919/109224	27694/107976	9232/35991	P/T	Cct/Act		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			96/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF10,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs1228009511	.												T	3	4	39	178712136	178712136	G	T	1	0	0	0	0	1	0	0	0	17245	1232	43	2		2	TTN	2	178712136	Missense_Mutation	SNP	G	C3N-00175_TP	2628759	178712136	63481393	246	10396											
TTN	0	.	GRCh38	chr2	178717335	178717335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accactttctccaagagcaaGatctactgatacaggcttta	13	11	6	11	0	2	3	0	1	2	2	3	3	2	3	2	1	3	2	2	1	5	5			C3N-00175_TP	C3N-00175_NB	G	G																c.25399C>A	p.Leu8467Ile	p.L8467I	ENST00000589042	88/363	76	62	14	76	76	0	strelka-varscan-mutect	TTN,missense_variant,p.Leu8467Ile,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Leu8150Ile,ENST00000591111,;TTN,missense_variant,p.Leu8150Ile,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Leu7223Ile,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,downstream_gene_variant,,ENST00000625536,;TTN-AS1,downstream_gene_variant,,ENST00000592630,;TTN-AS1,downstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000626117,;TTN-AS1,downstream_gene_variant,,ENST00000589830,;	T	ENST00000589042	Transcript	missense_variant	25624/109224	25399/107976	8467/35991	L/I	Ctt/Att	COSM3573172,COSM3573173	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			88/363		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	39	178717335	178717335	G	T	1	0	0	0	0	1	0	0	0	17245	942	33	2		2	TTN	2	178717335	Missense_Mutation	SNP	G	C3N-00175_TP	5199	178717335	63476194	247	10397											
TTN	0	.	GRCh38	chr2	178785989	178785989	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctcagctacctttgcGgcggaaatgcgttccttata	8	11	12	10	3	1	0	1	0	0	0	2	2	2	2	2	4	4	3	2	4	4	5	rs746990488		C3N-00175_TP	C3N-00175_NB	G	G																c.2229C>A	p.=	p.A743A	ENST00000589042	14/363	317	285	32	380	378	2	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.4;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN,synonymous_variant,p.=,ENST00000360870,NM_133379.4;TTN,downstream_gene_variant,,ENST00000436599,;	T	ENST00000589042	Transcript	synonymous_variant	2454/109224	2229/107976	743/35991	A	gcC/gcA	rs746990488,COSM1482516,COSM441906,COSM441907,COSM441908,COSM441910	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			14/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10											0,1,1,1,1,1						LOW	1	SNV	5		0,1,1,1,1,1	1										PASS		rs746990488	.												T	2	4	39	178785989	178785989	G	T	1	0	0	0	0	0	0	0	1	17245	1103	39	1		1	TTN	2	178785989	Silent	SNP	G	C3N-00175_TP	68654	178785989	63407540	248	10398											
FAM171B	0	.	GRCh38	chr2	186753991	186753991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cataacaatcatttaatctgGacatatgatgcaccacattt	15	13	4	9	0	2	1	1	1	1	0	2	2	2	2	1	1	2	1	1	1	4	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.954G>T	p.Trp318Cys	p.W318C	ENST00000304698	6/8	145	125	20	157	157	0	strelka-varscan-mutect	FAM171B,missense_variant,p.Trp318Cys,ENST00000304698,NM_177454.3;FAM171B,downstream_gene_variant,,ENST00000612606,;	T	ENST00000304698	Transcript	missense_variant	1157/5826	954/2481	318/826	W/C	tgG/tgT		1		1	FAM171B	HGNC	HGNC:29412	protein_coding	YES	CCDS33347.1	ENSP00000304108	Q6P995		UPI0000161631	NM_177454.3	deleterious(0)		6/8		hmmpanther:PTHR31626:SF2,hmmpanther:PTHR31626,Pfam_domain:PF10577																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	186753991	186753991	G	T	1	0	0	0	0	1	0	0	0	5339	1183	41	2		2	FAM171B	2	186753991	Missense_Mutation	SNP	G	C3N-00175_TP	7968002	186753991	55439538	249	10399											
ZSWIM2	0	.	GRCh38	chr2	186829730	186829730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgatgtgacttttaccttGtgagtacatggtagcaatct	11	15	9	6	0	1	3	0	3	1	0	1	3	1	3	1	1	3	3	1	1	5	5			C3N-00175_TP	C3N-00175_NB	G	G																c.1092C>A	p.His364Gln	p.H364Q	ENST00000295131	8/9	70	61	9	84	84	0	strelka-varscan-mutect	ZSWIM2,missense_variant,p.His364Gln,ENST00000295131,NM_182521.2;	T	ENST00000295131	Transcript	missense_variant	1132/2091	1092/1902	364/633	H/Q	caC/caA	COSM5285900	1		-1	ZSWIM2	HGNC	HGNC:30990	protein_coding	YES	CCDS33348.1	ENSP00000295131	Q8NEG5		UPI000013E20D	NM_182521.2	deleterious(0)		8/9		PROSITE_profiles:PS50089,hmmpanther:PTHR21540,hmmpanther:PTHR21540:SF0,Pfam_domain:PF13639,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850											1						MODERATE	1	SNV	1		1	1										PASS		rs1218754056	.												T	3	4	39	186829730	186829730	G	T	1	0	0	0	0	1	0	0	0	18842	1391	48	2		2	ZSWIM2	2	186829730	Missense_Mutation	SNP	G	C3N-00175_TP	75739	186829730	55363799	250	10400											
ZSWIM2	0	.	GRCh38	chr2	186847788	186847788	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaaacgtgaggatttcctAgaaaaacctttaaaggaaaa	19	9	7	6	1	0	2	0	1	0	1	1	4	1	4	2	2	3	0	2	2	9	5	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.173T>A	p.Leu58Gln	p.L58Q	ENST00000295131	2/9	77	71	6	136	136	0	strelka-varscan-mutect	ZSWIM2,missense_variant,p.Leu58Gln,ENST00000295131,NM_182521.2;ZSWIM2,3_prime_UTR_variant,,ENST00000419862,;	T	ENST00000295131	Transcript	missense_variant	213/2091	173/1902	58/633	L/Q	cTa/cAa		1		-1	ZSWIM2	HGNC	HGNC:30990	protein_coding	YES	CCDS33348.1	ENSP00000295131	Q8NEG5		UPI000013E20D	NM_182521.2	deleterious(0)		2/9		PROSITE_profiles:PS50966,hmmpanther:PTHR21540,hmmpanther:PTHR21540:SF0,Pfam_domain:PF04434																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	186847788	186847788	A	T	1	0	0	0	0	1	0	0	0	18842	420	15	4		4	ZSWIM2	2	186847788	Missense_Mutation	SNP	A	C3N-00175_TP	18058	186847788	55345741	251	10401											
COL3A1	0	.	GRCh38	chr2	188999295	188999295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgtcacagggtgatgctgGtgcccctggtgaacgtggac	6	11	15	9	1	1	2	1	2	0	0	1	3	1	3	2	4	3	1	2	4	1	1			C3N-00175_TP	C3N-00175_NB	G	G																c.2033G>T	p.Gly678Val	p.G678V	ENST00000304636	30/51	308	276	32	383	383	0	strelka-varscan-mutect	COL3A1,missense_variant,p.Gly678Val,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Gly678Val,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000450867,;COL3A1,downstream_gene_variant,,ENST00000637672,;COL3A1,upstream_gene_variant,,ENST00000467886,;	T	ENST00000304636	Transcript	missense_variant	2203/5543	2033/4401	678/1466	G/V	gGt/gTt	COSM3962084,COSM3962085	1		1	COL3A1	HGNC	HGNC:2201	protein_coding	YES	CCDS2297.1	ENSP00000304408	P02461		UPI0000456EBA	NM_000090.3	deleterious(0)		30/51		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	39	188999295	188999295	G	T	1	0	0	0	0	1	0	0	0	3477	1261	44	2		2	COL3A1	2	188999295	Missense_Mutation	SNP	G	C3N-00175_TP	2151507	188999295	53194234	252	10402											
COL5A2	0	.	GRCh38	chr2	189050638	189050638	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgccaacaattcctctctgCccggtcgttccagctggacc	7	10	8	16	2	1	0	0	0	1	0	5	1	3	1	5	2	4	2	5	2	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2970G>T	p.=	p.G990G	ENST00000374866	43/54	188	133	55	207	207	0	strelka-varscan-mutect	COL5A2,synonymous_variant,p.=,ENST00000374866,NM_000393.3;COL5A2,synonymous_variant,p.=,ENST00000618828,;	A	ENST00000374866	Transcript	synonymous_variant	3245/6949	2970/4500	990/1499	G	ggG/ggT		1		-1	COL5A2	HGNC	HGNC:2210	protein_coding	YES	CCDS33350.1	ENSP00000364000	P05997		UPI00006C511C	NM_000393.3			43/54		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF539,hmmpanther:PTHR24023																	LOW	1	SNV	1			1										PASS		rs933589600	.												A	2	1	39	189050638	189050638	C	A	1	0	0	0	0	0	0	0	1	3486	726	26	2		2	COL5A2	2	189050638	Silent	SNP	C	C3N-00175_TP	51343	189050638	53142891	253	10403											
HIBCH	0	.	GRCh38	chr2	190287620	190287620	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccatgaataagtgcaacaTaaggtttctggcaagaacct	14	11	8	8	0	1	2	0	1	1	1	2	2	2	2	2	2	3	3	2	2	6	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.404A>T	p.Tyr135Phe	p.Y135F	ENST00000359678	6/14	162	130	32	277	277	0	strelka-varscan-mutect	HIBCH,missense_variant,p.Tyr135Phe,ENST00000392332,NM_198047.2;HIBCH,missense_variant,p.Tyr135Phe,ENST00000359678,NM_014362.3;HIBCH,missense_variant,p.Tyr189Phe,ENST00000409934,;HIBCH,missense_variant,p.Tyr34Phe,ENST00000392333,;	A	ENST00000359678	Transcript	missense_variant	699/1939	404/1161	135/386	Y/F	tAt/tTt		1		-1	HIBCH	HGNC	HGNC:4908	protein_coding	YES	CCDS2304.1	ENSP00000352706	Q6NVY1	A0A140VJL0	UPI000013F16E	NM_014362.3	tolerated(0.12)		6/14		Gene3D:3.90.226.10,Pfam_domain:PF16113,hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF53,Superfamily_domains:SSF52096																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	190287620	190287620	T	A	1	0	0	0	0	1	0	0	0	6984	1406	49	4		4	HIBCH	2	190287620	Missense_Mutation	SNP	T	C3N-00175_TP	1236982	190287620	51905909	254	10404											
GPR1	0	.	GRCh38	chr2	206176839	206176839	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaggatggatcaagtggaTatagtggtccaggctgatca	12	9	14	6	0	2	1	2	1	0	0	3	5	3	4	1	5	0	1	1	5	3	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.409A>T	p.Ile137Phe	p.I137F	ENST00000612892	4/4	201	179	22	249	249	0	strelka-varscan-mutect	GPR1,missense_variant,p.Ile137Phe,ENST00000612892,NM_001261452.1,NM_001261453.1;GPR1,missense_variant,p.Ile137Phe,ENST00000407325,NM_001098199.1,NM_005279.3;GPR1,missense_variant,p.Ile137Phe,ENST00000621141,NM_001261455.1,NM_001261454.1;GPR1,missense_variant,p.Ile137Phe,ENST00000437420,;GPR1,missense_variant,p.Ile137Phe,ENST00000442134,;GPR1,missense_variant,p.Ile137Phe,ENST00000451790,;GPR1,missense_variant,p.Ile137Phe,ENST00000447845,;GPR1,downstream_gene_variant,,ENST00000411719,;GPR1,downstream_gene_variant,,ENST00000439932,;GPR1,downstream_gene_variant,,ENST00000458440,;	A	ENST00000612892	Transcript	missense_variant	1046/2565	409/1068	137/355	I/F	Atc/Ttc		1		-1	GPR1	HGNC	HGNC:4463	protein_coding	YES	CCDS2368.1	ENSP00000480405	P46091		UPI000013C9FB	NM_001261452.1,NM_001261453.1	tolerated(0.12)		4/4		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF4,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	4			1										PASS		rs1186663240	.												A	3	1	39	206176839	206176839	T	A	1	0	0	0	0	1	0	0	0	6523	1406	49	4		4	GPR1	2	206176839	Missense_Mutation	SNP	T	C3N-00175_TP	15889219	206176839	36016690	255	10405											
ZDBF2	0	.	GRCh38	chr2	206307180	206307180	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccctcttcattcagtgacTaattctcccgaagtagctgt	8	13	7	13	1	4	1	2	1	2	0	5	2	4	1	3	0	1	2	3	0	3	5	rs184499250		C3N-00175_TP	C3N-00175_NB	T	T																c.2652T>G	p.=	p.T884T	ENST00000374423	5/5	102	74	28	138	138	0	strelka-varscan-mutect	ZDBF2,synonymous_variant,p.=,ENST00000374423,NM_020923.2;ZDBF2,synonymous_variant,p.=,ENST00000611847,NM_001285549.1;	G	ENST00000374423	Transcript	synonymous_variant	3038/10286	2652/7065	884/2354	T	acT/acG	rs184499250	1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2			5/5		hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	LOW	1	SNV	1			1										PASS		rs184499250	.												G	2	3	39	206307180	206307180	T	G	1	0	0	0	0	0	0	0	1	18174	1509	53	5		5	ZDBF2	2	206307180	Silent	SNP	T	C3N-00175_TP	130341	206307180	35886349	256	10406											
UNC80	0	.	GRCh38	chr2	209829274	209829274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatacaagctagataagatgCagttccgacaaaccatgagg	16	8	9	8	1	0	3	0	1	0	2	1	4	1	3	2	1	4	3	2	1	6	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2521C>A	p.Gln841Lys	p.Q841K	ENST00000439458	15/64	159	119	40	177	177	0	strelka-varscan-mutect	UNC80,missense_variant,p.Gln841Lys,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Gln836Lys,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	A	ENST00000439458	Transcript	missense_variant	2601/13562	2521/9777	841/3258	Q/K	Cag/Aag		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1	tolerated(0.3)		15/64		hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	209829274	209829274	C	A	1	0	0	0	0	1	0	0	0	17521	711	25	2		2	UNC80	2	209829274	Missense_Mutation	SNP	C	C3N-00175_TP	3522094	209829274	32364255	257	10407											
UNC80	0	.	GRCh38	chr2	209880982	209880982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgtgaacccctctaaatGcggttgcccctttgccttga	7	13	8	13	1	1	2	0	2	1	0	1	2	1	2	5	1	5	1	5	1	4	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.4004G>T	p.Cys1335Phe	p.C1335F	ENST00000439458	25/64	156	115	41	173	173	0	strelka-varscan-mutect	UNC80,missense_variant,p.Cys1335Phe,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Cys1330Phe,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	T	ENST00000439458	Transcript	missense_variant	4084/13562	4004/9777	1335/3258	C/F	tGc/tTc		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1	tolerated(0.12)		25/64		hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1																	MODERATE	1	SNV	5			1										PASS		rs1407012746	.												T	3	4	39	209880982	209880982	G	T	1	0	0	0	0	1	0	0	0	17521	1319	46	2		2	UNC80	2	209880982	Missense_Mutation	SNP	G	C3N-00175_TP	51708	209880982	32312547	258	10408											
UNC80	0	.	GRCh38	chr2	209904869	209904869	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcctgtgcccgactggtCagagccatcaagctactcta	8	9	9	15	2	3	1	2	0	1	1	4	2	4	1	3	1	4	2	3	1	3	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.4488C>A	p.=	p.V1496V	ENST00000439458	28/64	351	305	46	364	363	1	strelka-varscan-mutect	UNC80,synonymous_variant,p.=,ENST00000439458,NM_032504.1;UNC80,synonymous_variant,p.=,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	A	ENST00000439458	Transcript	synonymous_variant	4568/13562	4488/9777	1496/3258	V	gtC/gtA		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1			28/64		hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	39	209904869	209904869	C	A	1	0	0	0	0	0	0	0	1	17521	813	29	2		2	UNC80	2	209904869	Silent	SNP	C	C3N-00175_TP	23887	209904869	32288660	259	10409											
ERBB4	0	.	GRCh38	chr2	211705331	211705331	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattacctgttatctctctGactgtccgaaagacgttcag	11	13	7	10	2	3	2	1	1	2	1	5	3	4	2	2	0	1	2	2	0	4	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1185C>A	p.=	p.V395V	ENST00000342788	10/28	243	223	20	255	255	0	strelka-varscan-mutect	ERBB4,synonymous_variant,p.=,ENST00000342788,NM_005235.2;ERBB4,synonymous_variant,p.=,ENST00000436443,NM_001042599.1;ERBB4,synonymous_variant,p.=,ENST00000402597,;ERBB4,synonymous_variant,p.=,ENST00000260943,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;	T	ENST00000342788	Transcript	synonymous_variant	1496/12136	1185/3927	395/1308	V	gtC/gtA		1		-1	ERBB4	HGNC	HGNC:3432	protein_coding	YES	CCDS2394.1	ENSP00000342235	Q15303		UPI00000499DF	NM_005235.2			10/28		hmmpanther:PTHR24416:SF90,hmmpanther:PTHR24416,Pfam_domain:PF01030,Gene3D:3.80.20.20,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	211705331	211705331	G	T	1	0	0	0	0	0	0	0	1	5057	1277	45	2		2	ERBB4	2	211705331	Silent	SNP	G	C3N-00175_TP	1800462	211705331	30488198	260	10410											
ABCA12	0	.	GRCh38	chr2	215019734	215019734	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagagagctggcatgacttCtctatcaaactgaaagtttc	12	12	8	9	0	3	3	2	2	1	1	5	4	3	3	0	1	2	3	0	1	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1350G>A	p.=	p.E450E	ENST00000272895	12/53	299	257	42	366	366	0	strelka-varscan-mutect	ABCA12,synonymous_variant,p.=,ENST00000272895,NM_173076.2;ABCA12,synonymous_variant,p.=,ENST00000389661,NM_015657.3;AC072062.3,intron_variant,,ENST00000617699,;AC072062.3,intron_variant,,ENST00000627811,;AC072062.3,upstream_gene_variant,,ENST00000437897,;AC072062.3,upstream_gene_variant,,ENST00000595058,;AC072062.3,upstream_gene_variant,,ENST00000419251,;AC072062.3,upstream_gene_variant,,ENST00000627336,;AC072062.3,upstream_gene_variant,,ENST00000615813,;AC072062.3,upstream_gene_variant,,ENST00000602182,;	T	ENST00000272895	Transcript	synonymous_variant	1570/9100	1350/7788	450/2595	E	gaG/gaA		1		-1	ABCA12	HGNC	HGNC:14637	protein_coding	YES	CCDS33372.1	ENSP00000272895	Q86UK0		UPI000019AB7A	NM_173076.2			12/53																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	215019734	215019734	C	T	1	0	0	0	0	0	0	0	1	34	912	32	3		3	ABCA12	2	215019734	Silent	SNP	C	C3N-00175_TP	3314403	215019734	27173795	261	10411											
MARCH4	0	.	GRCh38	chr2	216277856	216277856	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgaccgtcagagagatGgcctgccactgcaggggaga	11	6	14	10	1	2	4	2	1	0	3	2	6	2	4	3	3	2	1	3	3	1	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.681C>A	p.=	p.A227A	ENST00000273067	3/4	69	63	6	93	93	0	strelka-varscan-mutect	MARCH4,synonymous_variant,p.=,ENST00000273067,NM_020814.2;	T	ENST00000273067	Transcript	synonymous_variant	2448/4447	681/1233	227/410	A	gcC/gcA		1		-1	MARCH4	HGNC	HGNC:29269	protein_coding	YES	CCDS33376.1	ENSP00000273067	Q9P2E8		UPI00001C1DB9	NM_020814.2			3/4		hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF51																	LOW	1	SNV	1			1										PASS		rs924412065	.												T	2	4	39	216277856	216277856	G	T	1	0	0	0	0	0	0	0	1	9228	1335	47	2		2	MARCH4	2	216277856	Silent	SNP	G	C3N-00175_TP	1258122	216277856	25915673	262	10412											
MARCH4	0	.	GRCh38	chr2	216370169	216370169	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaccctggtggcgcaacAtctggggggctggggcacac	7	5	18	11	1	1	1	0	0	1	1	1	2	1	1	1	8	1	3	1	8	1	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.92T>A	p.Met31Lys	p.M31K	ENST00000273067	1/4	184	170	14	243	243	0	strelka-varscan-mutect	MARCH4,missense_variant,p.Met31Lys,ENST00000273067,NM_020814.2;	T	ENST00000273067	Transcript	missense_variant	1859/4447	92/1233	31/410	M/K	aTg/aAg		1		-1	MARCH4	HGNC	HGNC:29269	protein_coding	YES	CCDS33376.1	ENSP00000273067	Q9P2E8		UPI00001C1DB9	NM_020814.2	deleterious_low_confidence(0)		1/4		hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF51																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	216370169	216370169	A	T	1	0	0	0	0	1	0	0	0	9228	217	8	4		4	MARCH4	2	216370169	Missense_Mutation	SNP	A	C3N-00175_TP	92313	216370169	25823360	263	10413											
WNT10A	0	.	GRCh38	chr2	218882290	218882290	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcgtcaccctgatgtGgctgcctcagccatacaggg	6	10	13	12	1	2	1	2	1	0	0	2	1	2	1	3	2	4	1	3	2	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.243G>T	p.=	p.V81V	ENST00000258411	2/4	272	191	81	407	407	0	strelka-varscan-mutect	WNT10A,synonymous_variant,p.=,ENST00000258411,NM_025216.2;WNT10A,synonymous_variant,p.=,ENST00000458582,;WNT10A,upstream_gene_variant,,ENST00000483911,;	T	ENST00000258411	Transcript	synonymous_variant	876/2547	243/1254	81/417	V	gtG/gtT		1		1	WNT10A	HGNC	HGNC:13829	protein_coding	YES	CCDS2426.1	ENSP00000258411	Q9GZT5		UPI0000032F2A	NM_025216.2			2/4		Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF89,SMART_domains:SM00097																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	218882290	218882290	G	T	1	0	0	0	0	0	0	0	1	17938	1335	47	2		2	WNT10A	2	218882290	Silent	SNP	G	C3N-00175_TP	2512121	218882290	23311239	264	10414											
ABCB6	0	.	GRCh38	chr2	219216116	219216116	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagaagatgagcagctcCacccgccgagacgtgaactg	11	5	14	11	3	0	5	0	2	0	3	1	7	1	5	3	1	3	2	3	1	2	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1035G>T	p.=	p.V345V	ENST00000265316	5/19	112	65	47	151	150	1	strelka-varscan-mutect	ABCB6,synonymous_variant,p.=,ENST00000265316,NM_005689.2;ABCB6,synonymous_variant,p.=,ENST00000295750,;ATG9A,downstream_gene_variant,,ENST00000409618,;ATG9A,downstream_gene_variant,,ENST00000396761,NM_024085.4;ATG9A,downstream_gene_variant,,ENST00000361242,NM_001077198.2;ATG9A,downstream_gene_variant,,ENST00000409422,;ATG9A,3_prime_UTR_variant,,ENST00000446716,;ABCB6,3_prime_UTR_variant,,ENST00000452545,;ABCB6,non_coding_transcript_exon_variant,,ENST00000492953,;ABCB6,intron_variant,,ENST00000448398,;ABCB6,intron_variant,,ENST00000417678,;ATG9A,downstream_gene_variant,,ENST00000409033,;ABCB6,upstream_gene_variant,,ENST00000497882,;ATG9A,downstream_gene_variant,,ENST00000475339,;ABCB6,upstream_gene_variant,,ENST00000492543,;ABCB6,upstream_gene_variant,,ENST00000496984,;ABCB6,upstream_gene_variant,,ENST00000494639,;	A	ENST00000265316	Transcript	synonymous_variant	1352/3016	1035/2529	345/842	V	gtG/gtT		1		-1	ABCB6	HGNC	HGNC:47	protein_coding	YES	CCDS2436.1	ENSP00000265316	Q9NP58		UPI000004C4BA	NM_005689.2			5/19		PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF18,hmmpanther:PTHR24221,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	219216116	219216116	C	A	1	0	0	0	0	0	0	0	1	49	581	21	2		2	ABCB6	2	219216116	Silent	SNP	C	C3N-00175_TP	333826	219216116	22977413	265	10415											
PTPRN	0	.	GRCh38	chr2	219302487	219302487	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctggagccatcacgggagCcaaactgtggaaaaccagag	13	4	12	12	1	1	1	1	0	0	1	1	4	1	4	4	3	4	0	4	3	3	0	rs565592583		C3N-00175_TP	C3N-00175_NB	C	C																c.644G>C	p.Gly215Ala	p.G215A	ENST00000295718	6/23	110	97	13	170	170	0	strelka-varscan-mutect	PTPRN,missense_variant,p.Gly215Ala,ENST00000295718,NM_002846.3;PTPRN,missense_variant,p.Gly215Ala,ENST00000409251,NM_001199763.1;PTPRN,missense_variant,p.Gly125Ala,ENST00000423636,NM_001199764.1;PTPRN,missense_variant,p.Gly125Ala,ENST00000412847,;PTPRN,incomplete_terminal_codon_variant,p.=,ENST00000446182,;PTPRN,downstream_gene_variant,,ENST00000440552,;PTPRN,downstream_gene_variant,,ENST00000442029,;PTPRN,downstream_gene_variant,,ENST00000451506,;AC114803.3,intron_variant,,ENST00000417355,;PTPRN,downstream_gene_variant,,ENST00000468454,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,downstream_gene_variant,,ENST00000606213,;PTPRN,downstream_gene_variant,,ENST00000476930,;PTPRN,upstream_gene_variant,,ENST00000489650,;PTPRN,upstream_gene_variant,,ENST00000486480,;PTPRN,downstream_gene_variant,,ENST00000484986,;	G	ENST00000295718	Transcript	missense_variant	885/3784	644/2940	215/979	G/A	gGc/gCc	rs565592583	1		-1	PTPRN	HGNC	HGNC:9676	protein_coding	YES	CCDS2440.1	ENSP00000295718	Q16849		UPI0000132999	NM_002846.3	tolerated(0.17)		6/23		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2																	MODERATE	1	SNV	1			1										PASS		rs565592583	.												G	3	3	39	219302487	219302487	C	G	1	0	0	0	0	1	0	0	0	12961	753	26	4		4	PTPRN	2	219302487	Missense_Mutation	SNP	C	C3N-00175_TP	86371	219302487	22891042	266	10416											
SPEG	0	.	GRCh38	chr2	219468636	219468636	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttggcacccctgttcacAcggctgctggaagatgtgga	7	10	13	11	2	1	1	1	0	0	1	2	3	1	3	2	4	1	5	2	4	1	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.3201A>T	p.=	p.T1067T	ENST00000312358	11/41	126	87	39	194	194	0	strelka-varscan-mutect	SPEG,synonymous_variant,p.=,ENST00000312358,NM_005876.4;SPEG,downstream_gene_variant,,ENST00000396698,;SPEG,downstream_gene_variant,,ENST00000396688,NM_001173476.1;SPEG,downstream_gene_variant,,ENST00000396689,;SPEG,downstream_gene_variant,,ENST00000396686,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,downstream_gene_variant,,ENST00000498378,;SPEG,downstream_gene_variant,,ENST00000462545,;SPEG,downstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000496786,;SPEG,downstream_gene_variant,,ENST00000464989,;SPEG,upstream_gene_variant,,ENST00000485069,;SPEG,downstream_gene_variant,,ENST00000475921,;	T	ENST00000312358	Transcript	synonymous_variant	3333/10782	3201/9804	1067/3267	T	acA/acT		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4			11/41		Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF728,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	39	219468636	219468636	A	T	1	0	0	0	0	0	0	0	1	15387	146	6	4		4	SPEG	2	219468636	Silent	SNP	A	C3N-00175_TP	166149	219468636	22724893	267	10417											
SPEG	0	.	GRCh38	chr2	219483675	219483675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggctgcaggccctgcGccagcggctgctgcggggag	5	4	18	14	3	0	1	0	0	0	1	0	2	0	2	3	5	5	4	3	5	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.6212G>T	p.Arg2071Leu	p.R2071L	ENST00000312358	30/41	168	149	19	222	222	0	strelka-varscan-mutect	SPEG,missense_variant,p.Arg2071Leu,ENST00000312358,NM_005876.4;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	T	ENST00000312358	Transcript	missense_variant	6344/10782	6212/9804	2071/3267	R/L	cGc/cTc		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	deleterious(0)		30/41		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF728,Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	39	219483675	219483675	G	T	1	0	0	0	0	1	0	0	0	15387	1087	38	1		1	SPEG	2	219483675	Missense_Mutation	SNP	G	C3N-00175_TP	15039	219483675	22709854	268	10418											
SPEG	0	.	GRCh38	chr2	219490932	219490932	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttaggccccttggccacCgcacgggcacgctggagttc	5	7	12	17	3	0	0	0	0	0	0	1	1	0	1	5	4	0	4	5	4	1	3	rs775299831		C3N-00175_TP	C3N-00175_NB	C	C																c.9361C>A	p.Arg3121Ser	p.R3121S	ENST00000312358	38/41	145	103	42	211	210	1	strelka-varscan-mutect	SPEG,missense_variant,p.Arg3121Ser,ENST00000312358,NM_005876.4;SPEG,upstream_gene_variant,,ENST00000412982,;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	A	ENST00000312358	Transcript	missense_variant	9493/10782	9361/9804	3121/3267	R/S	Cgc/Agc	rs775299831	1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	tolerated(0.16)		38/41		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF728,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE		SNV	5			1										PASS		rs775299831	.												A	3	1	39	219490932	219490932	C	A	1	0	0	0	0	1	0	0	0	15387	652	23	1		1	SPEG	2	219490932	Missense_Mutation	SNP	C	C3N-00175_TP	7257	219490932	22702597	269	10419											
SLC4A3	0	.	GRCh38	chr2	219630291	219630291	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtggtccagagcagcaGgtgcccacagatgaggcgga	10	4	16	11	1	0	3	0	1	0	2	1	4	1	4	3	5	3	2	3	5	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.831G>C	p.Gln277His	p.Q277H	ENST00000273063	6/23	129	117	12	216	216	0	strelka-varscan-mutect	SLC4A3,missense_variant,p.Gln250His,ENST00000358055,NM_005070.3;SLC4A3,missense_variant,p.Gln277His,ENST00000273063,NM_001326559.1,NM_201574.2;SLC4A3,missense_variant,p.Gln250His,ENST00000373760,;SLC4A3,missense_variant,p.Gln250His,ENST00000317151,;SLC4A3,upstream_gene_variant,,ENST00000413743,;AC009955.8,upstream_gene_variant,,ENST00000455896,;SLC4A3,intron_variant,,ENST00000497589,;SLC4A3,missense_variant,p.Gln250His,ENST00000425141,;SLC4A3,upstream_gene_variant,,ENST00000416910,;SLC4A3,upstream_gene_variant,,ENST00000444906,;	C	ENST00000273063	Transcript	missense_variant	1045/4246	831/3780	277/1259	Q/H	caG/caC		1		1	SLC4A3	HGNC	HGNC:11029	protein_coding	YES	CCDS2446.1	ENSP00000273063	P48751		UPI000022BE50	NM_001326559.1,NM_201574.2	deleterious(0.03)		6/23																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	219630291	219630291	G	C	1	0	0	0	0	1	0	0	0	14932	991	35	4		4	SLC4A3	2	219630291	Missense_Mutation	SNP	G	C3N-00175_TP	139359	219630291	22563238	270	10420											
PAX3	0	.	GRCh38	chr2	222232093	222232093	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtacctgtactcgggcctcGgtgagcttcgccctctgggc	4	10	13	14	3	1	1	0	1	1	0	4	1	1	1	3	3	3	3	3	3	2	3	rs773501490		C3N-00175_TP	C3N-00175_NB	G	G																c.777C>G	p.=	p.T259T	ENST00000392069	5/10	406	322	84	467	467	0	strelka-varscan-mutect	PAX3,synonymous_variant,p.=,ENST00000350526,NM_181457.3;PAX3,synonymous_variant,p.=,ENST00000392069,NM_181459.3;PAX3,synonymous_variant,p.=,ENST00000344493,NM_181461.3;PAX3,synonymous_variant,p.=,ENST00000392070,NM_181458.3;PAX3,synonymous_variant,p.=,ENST00000336840,NM_181460.3;PAX3,synonymous_variant,p.=,ENST00000409551,NM_001127366.2;	C	ENST00000392069	Transcript	synonymous_variant	1143/3170	777/1518	259/505	T	acC/acG	rs773501490,COSM4908583,COSM4908584	1		-1	PAX3	HGNC	HGNC:8617	protein_coding	YES	CCDS2448.1	ENSP00000375921	P23760		UPI00001A8BF0	NM_181459.3			5/10		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF307,SMART_domains:SM00389,Superfamily_domains:SSF46689											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs773501490	.												C	2	2	39	222232093	222232093	G	C	1	0	0	0	0	0	0	0	1	11565	1103	39	4		4	PAX3	2	222232093	Silent	SNP	G	C3N-00175_TP	2601802	222232093	19961436	271	10421											
CUL3	0	.	GRCh38	chr2	224474378	224474378	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcaactgctgagttaccTaaaaaagaaagtagatagta	17	10	7	7	0	1	3	1	1	0	2	1	3	1	3	2	0	3	4	2	0	9	6	rs779923028		C3N-00175_TP	C3N-00175_NB	T	T																c.2176-2A>C		p.X726_splice	ENST00000264414		50	40	10	77	77	0	strelka-varscan-mutect	CUL3,splice_acceptor_variant,,ENST00000264414,NM_003590.4;CUL3,splice_acceptor_variant,,ENST00000344951,NM_001257197.1;CUL3,splice_acceptor_variant,,ENST00000409777,;CUL3,splice_acceptor_variant,,ENST00000409096,NM_001257198.1;CUL3,splice_acceptor_variant,,ENST00000617432,;CUL3,splice_acceptor_variant,,ENST00000451538,;RP11-92F20.1,non_coding_transcript_exon_variant,,ENST00000622296,;RP11-92F20.1,non_coding_transcript_exon_variant,,ENST00000620050,;CUL3,downstream_gene_variant,,ENST00000536702,;CUL3,splice_acceptor_variant,,ENST00000497715,;CUL3,splice_acceptor_variant,,ENST00000454323,;	G	ENST00000264414	Transcript	splice_acceptor_variant	-/6741	2176/2307	726/768			rs779923028,COSM4855130	1		-1	CUL3	HGNC	HGNC:2553	protein_coding	YES	CCDS2462.1	ENSP00000264414	Q13618	A0A024R475	UPI0000001C83	NM_003590.4				15/15												0,1						HIGH	1	SNV	1		0,1	1										PASS		rs779923028	.												G	5	3	39	224474378	224474378	T	G	1	0	0	0	0	0	0	1	0	3866	1536	53	5		5	CUL3	2	224474378	Splice_Site	SNP	T	C3N-00175_TP	2242285	224474378	17719151	272	10422											
SP140	0	.	GRCh38	chr2	230248885	230248885	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttcttgtttatctgcagAgacctttgatctaaaaactc	12	16	5	8	0	3	2	0	1	3	1	4	3	3	2	1	0	2	2	1	0	5	6	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.893A>T	p.Glu298Val	p.E298V	ENST00000392045	9/27	142	96	46	117	117	0	strelka-varscan-mutect	SP140,missense_variant,p.Glu298Val,ENST00000392045,NM_007237.4;SP140,missense_variant,p.Glu298Val,ENST00000420434,NM_001278451.1;SP140,missense_variant,p.Glu272Val,ENST00000343805,NM_001278452.1;SP140,missense_variant,p.Glu245Val,ENST00000417495,NM_001278453.1;	T	ENST00000392045	Transcript	missense_variant,splice_region_variant	1007/3246	893/2604	298/867	E/V	gAg/gTg		1		1	SP140	HGNC	HGNC:17133	protein_coding	YES	CCDS42831.1	ENSP00000375899	Q13342		UPI0000209746	NM_007237.4	tolerated(0.72)		9/27																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	230248885	230248885	A	T	1	0	0	0	0	1	0	0	0	15288	318	11	4		4	SP140	2	230248885	Missense_Mutation	SNP	A	C3N-00175_TP	5774507	230248885	11944644	273	10423											
GIGYF2	0	.	GRCh38	chr2	232832893	232832893	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggcccgggaagaagaaGaagcccagcgtcgattagag	14	4	15	8	3	0	4	0	0	0	4	1	6	0	5	2	2	2	0	2	2	6	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2629G>T	p.Glu877Ter	p.E877*	ENST00000409451	24/31	385	353	32	375	374	1	strelka-varscan-mutect	GIGYF2,stop_gained,p.Glu878Ter,ENST00000629305,;GIGYF2,stop_gained,p.Glu856Ter,ENST00000409547,NM_015575.3;GIGYF2,stop_gained,p.Glu878Ter,ENST00000409480,;GIGYF2,stop_gained,p.Glu877Ter,ENST00000409451,NM_001103147.1;GIGYF2,stop_gained,p.Glu856Ter,ENST00000373563,NM_001103146.1;GIGYF2,stop_gained,p.Glu850Ter,ENST00000409196,NM_001103148.1;Y_RNA,downstream_gene_variant,,ENST00000362911,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000469843,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000474312,;	T	ENST00000409451	Transcript	stop_gained	2855/5937	2629/3963	877/1320	E/*	Gaa/Taa		1		1	GIGYF2	HGNC	HGNC:11960	protein_coding	YES	CCDS46542.1	ENSP00000387170	Q6Y7W6		UPI00003FEC8F	NM_001103147.1			24/31		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF38,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	39	232832893	232832893	G	T	1	0	0	0	0	0	1	0	0	6258	943	33	2		2	GIGYF2	2	232832893	Nonsense_Mutation	SNP	G	C3N-00175_TP	2584008	232832893	9360636	274	10424											
INPP5D	0	.	GRCh38	chr2	233146210	233146210	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtccaagctcagccaaCtgacaagcctgttgtcgtcc	8	10	10	13	1	1	1	1	1	0	0	4	1	3	1	4	1	4	2	4	1	3	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.802C>T	p.=	p.L268L	ENST00000445964	7/27	278	179	99	331	331	0	strelka-varscan-mutect	INPP5D,synonymous_variant,p.=,ENST00000359570,NM_005541.4;INPP5D,synonymous_variant,p.=,ENST00000445964,NM_001017915.2;INPP5D,downstream_gene_variant,,ENST00000451407,;	T	ENST00000445964	Transcript	synonymous_variant	883/4845	802/3570	268/1189	L	Ctg/Ttg		1		1	INPP5D	HGNC	HGNC:6079	protein_coding	YES	CCDS74672.1	ENSP00000405338	Q92835		UPI000006FD6D	NM_001017915.2			7/27		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF69,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1224361143	.												T	2	4	39	233146210	233146210	C	T	1	0	0	0	0	0	0	0	1	7659	564	20	3		3	INPP5D	2	233146210	Silent	SNP	C	C3N-00175_TP	313317	233146210	9047319	275	10425											
INPP5D	0	.	GRCh38	chr2	233198180	233198180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgggccaccaatgcccCtgcacgtgaagcagaccttg	8	8	10	15	1	0	2	0	1	0	1	0	2	0	2	6	1	3	2	6	1	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2779C>A	p.Leu927Met	p.L927M	ENST00000445964	25/27	182	167	15	177	177	0	strelka-varscan-mutect	INPP5D,missense_variant,p.Leu926Met,ENST00000359570,NM_005541.4;INPP5D,missense_variant,p.Leu927Met,ENST00000445964,NM_001017915.2;INPP5D,missense_variant,p.Leu548Met,ENST00000415617,;INPP5D,missense_variant,p.Leu49Met,ENST00000417661,;	A	ENST00000445964	Transcript	missense_variant	2860/4845	2779/3570	927/1189	L/M	Ctg/Atg		1		1	INPP5D	HGNC	HGNC:6079	protein_coding	YES	CCDS74672.1	ENSP00000405338	Q92835		UPI000006FD6D	NM_001017915.2	tolerated(0.22)		25/27		hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF69																	MODERATE	1	SNV	1			1										PASS		rs1057220841	.												A	3	1	39	233198180	233198180	C	A	1	0	0	0	0	1	0	0	0	7659	680	24	2		2	INPP5D	2	233198180	Missense_Mutation	SNP	C	C3N-00175_TP	51970	233198180	8995349	276	10426											
UGT1A10	0	.	GRCh38	chr2	233637045	233637045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaggggaatattttgcCaccatcttgaagaaggtgca	12	10	10	9	0	2	2	1	1	1	1	2	3	2	3	3	3	2	1	3	3	4	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.523C>A	p.His175Asn	p.H175N	ENST00000344644	1/5	204	133	71	215	214	1	strelka-varscan-mutect	UGT1A10,missense_variant,p.His175Asn,ENST00000344644,NM_019075.2;UGT1A10,missense_variant,p.His175Asn,ENST00000373445,;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;	A	ENST00000344644	Transcript	missense_variant	592/2408	523/1593	175/530	H/N	Cac/Aac		1		1	UGT1A10	HGNC	HGNC:12531	protein_coding	YES	CCDS33403.1	ENSP00000343838	Q9HAW8	Q5DT02	UPI000006D7E8	NM_019075.2	tolerated(0.16)		1/5		Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF173,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	233637045	233637045	C	A	1	0	0	0	0	1	0	0	0	17470	594	21	2		2	UGT1A10	2	233637045	Missense_Mutation	SNP	C	C3N-00175_TP	438865	233637045	8556484	277	10427											
UGT1A9	0	.	GRCh38	chr2	233672190	233672190	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcatataccctggaggatCtggaccgggagttcaaggct	9	10	12	10	1	3	0	2	0	1	0	3	4	3	4	2	5	1	2	2	5	3	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.256C>G	p.Leu86Val	p.L86V	ENST00000354728	1/5	137	125	12	148	148	0	strelka-varscan-mutect	UGT1A9,missense_variant,p.Leu86Val,ENST00000354728,NM_021027.2;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A10,intron_variant,,ENST00000373445,;	G	ENST00000354728	Transcript	missense_variant	338/2416	256/1593	86/530	L/V	Ctg/Gtg		1		1	UGT1A9	HGNC	HGNC:12541	protein_coding	YES	CCDS2505.1	ENSP00000346768	O60656	Q5DSZ5	UPI0000044213	NM_021027.2	tolerated(0.24)		1/5		hmmpanther:PTHR11926:SF173,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	233672190	233672190	C	G	1	0	0	0	0	1	0	0	0	17477	912	32	4		4	UGT1A9	2	233672190	Missense_Mutation	SNP	C	C3N-00175_TP	35145	233672190	8521339	278	10428											
SH3BP4	0	.	GRCh38	chr2	235041148	235041148	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgacagcggtatgattgatAatcttccagacagcccagac	12	9	10	10	1	1	5	0	3	1	2	2	5	2	5	2	1	2	1	2	1	2	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.379A>T	p.Asn127Tyr	p.N127Y	ENST00000409212	4/6	222	150	72	217	217	0	strelka-varscan-mutect	SH3BP4,missense_variant,p.Asn127Tyr,ENST00000409212,;SH3BP4,missense_variant,p.Asn127Tyr,ENST00000392011,NM_014521.2;SH3BP4,missense_variant,p.Asn127Tyr,ENST00000344528,;SH3BP4,missense_variant,p.Asn127Tyr,ENST00000446904,;SH3BP4,downstream_gene_variant,,ENST00000416021,;SH3BP4,downstream_gene_variant,,ENST00000444916,;SH3BP4,downstream_gene_variant,,ENST00000454947,;	T	ENST00000409212	Transcript	missense_variant	886/5231	379/2892	127/963	N/Y	Aat/Tat		1		1	SH3BP4	HGNC	HGNC:10826	protein_coding	YES	CCDS2513.1	ENSP00000386862	Q9P0V3		UPI000006DA47		deleterious(0.02)		4/6		hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	235041148	235041148	A	T	1	0	0	0	0	1	0	0	0	14504	362	13	4		4	SH3BP4	2	235041148	Missense_Mutation	SNP	A	C3N-00175_TP	1368958	235041148	7152381	279	10429											
COL6A3	0	.	GRCh38	chr2	237340687	237340687	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccggcacctcgcccgtCagcatcaggaccacaatttt	8	9	8	16	3	2	0	2	0	0	0	4	1	3	1	4	2	2	3	4	2	1	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.8229G>T	p.=	p.L2743L	ENST00000295550	38/44	364	259	105	442	442	0	strelka-varscan-mutect	COL6A3,synonymous_variant,p.=,ENST00000295550,NM_004369.3;COL6A3,synonymous_variant,p.=,ENST00000353578,NM_057167.3;COL6A3,synonymous_variant,p.=,ENST00000409809,;COL6A3,synonymous_variant,p.=,ENST00000472056,NM_057166.4;COL6A3,synonymous_variant,p.=,ENST00000347401,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;COL6A3,upstream_gene_variant,,ENST00000468792,;	A	ENST00000295550	Transcript	synonymous_variant	8682/10749	8229/9534	2743/3177	L	ctG/ctT		1		-1	COL6A3	HGNC	HGNC:2213	protein_coding	YES	CCDS33412.1	ENSP00000295550	P12111	D9ZGF2	UPI0000456F39	NM_004369.3			38/44		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF74,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	237340687	237340687	C	A	1	0	0	0	0	0	0	0	1	3490	813	29	2		2	COL6A3	2	237340687	Silent	SNP	C	C3N-00175_TP	2299539	237340687	4852842	280	10430											
MLPH	0	.	GRCh38	chr2	237552357	237552357	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaagatgatgattcttttGatcggaaatcagtgtaccga	13	13	10	5	2	2	4	1	3	1	1	3	6	2	5	1	1	1	2	1	1	4	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1696G>C	p.Asp566His	p.D566H	ENST00000264605	15/16	355	257	98	353	353	0	strelka-varscan-mutect	MLPH,missense_variant,p.Asp566His,ENST00000264605,NM_024101.6;MLPH,missense_variant,p.Asp538His,ENST00000338530,NM_001042467.2;MLPH,missense_variant,p.Asp423His,ENST00000410032,NM_001281474.1;MLPH,missense_variant,p.Asp446His,ENST00000409373,NM_001281473.1;MLPH,missense_variant,p.Asp326His,ENST00000437893,;MLPH,missense_variant,p.Asp202His,ENST00000415753,;MLPH,missense_variant,p.Asp115His,ENST00000434770,;MLPH,missense_variant,p.Asp165His,ENST00000432475,;MLPH,non_coding_transcript_exon_variant,,ENST00000495439,;MLPH,non_coding_transcript_exon_variant,,ENST00000464123,;MLPH,non_coding_transcript_exon_variant,,ENST00000478712,;MLPH,non_coding_transcript_exon_variant,,ENST00000477457,;MLPH,non_coding_transcript_exon_variant,,ENST00000489967,;	C	ENST00000264605	Transcript	missense_variant	1990/3823	1696/1803	566/600	D/H	Gat/Cat		1		1	MLPH	HGNC	HGNC:29643	protein_coding	YES	CCDS2518.1	ENSP00000264605	Q9BV36	A0A024R492	UPI00000730BF	NM_024101.6	tolerated(0.06)		15/16		hmmpanther:PTHR14555																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	237552357	237552357	G	C	1	0	0	0	0	1	0	0	0	9596	1290	45	4		4	MLPH	2	237552357	Missense_Mutation	SNP	G	C3N-00175_TP	211670	237552357	4641172	281	10431											
ANO7	0	.	GRCh38	chr2	241209344	241209344	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcttgttcatggcactgtgGgccgtgctgctgctggagta	5	12	15	9	1	1	0	1	0	0	0	1	1	1	1	1	3	4	7	1	3	1	3			C3N-00175_TP	C3N-00175_NB	G	G																c.1299G>A	p.Trp433Ter	p.W433*	ENST00000274979	12/25	190	174	16	248	248	0	strelka-varscan-mutect	ANO7,stop_gained,p.Trp433Ter,ENST00000274979,NM_001001891.3;ANO7,stop_gained,p.Trp432Ter,ENST00000402430,;ANO7,upstream_gene_variant,,ENST00000471606,;	A	ENST00000274979	Transcript	stop_gained	1402/4128	1299/2802	433/933	W/*	tgG/tgA	COSM1018876,COSM1592028	1		1	ANO7	HGNC	HGNC:31677	protein_coding	YES	CCDS33423.1	ENSP00000274979	Q6IWH7		UPI0000D612DB	NM_001001891.3			12/25		Transmembrane_helices:TMhelix,hmmpanther:PTHR12308:SF22,hmmpanther:PTHR12308,Pfam_domain:PF04547											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												A	4	1	39	241209344	241209344	G	A	1	0	0	0	0	0	1	0	0	809	1241	43	3		3	ANO7	2	241209344	Nonsense_Mutation	SNP	G	C3N-00175_TP	3656987	241209344	984185	282	10432											
GAL3ST2	0	.	GRCh38	chr2	241804041	241804041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacaacctccggccgggcCtggacaaccagacgctgggc	8	5	13	15	3	0	1	0	0	0	1	1	2	1	2	5	4	3	2	5	4	3	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1072C>A	p.Leu358Met	p.L358M	ENST00000192314	4/4	170	149	21	181	179	2	strelka-varscan-mutect	GAL3ST2,missense_variant,p.Leu358Met,ENST00000192314,NM_022134.2;NEU4,upstream_gene_variant,,ENST00000407683,NM_001167601.2,NM_001167600.2;AC114730.3,downstream_gene_variant,,ENST00000413820,;AC114730.5,upstream_gene_variant,,ENST00000437438,;	A	ENST00000192314	Transcript	missense_variant	1203/1370	1072/1197	358/398	L/M	Ctg/Atg		1		1	GAL3ST2	HGNC	HGNC:24869	protein_coding	YES	CCDS33427.1	ENSP00000192314	Q9H3Q3		UPI000049DF44	NM_022134.2	deleterious(0.02)		4/4		hmmpanther:PTHR14647,hmmpanther:PTHR14647:SF55,Pfam_domain:PF06990																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	241804041	241804041	C	A	1	0	0	0	0	1	0	0	0	6066	680	24	2		2	GAL3ST2	2	241804041	Missense_Mutation	SNP	C	C3N-00175_TP	594697	241804041	389488	283	10433											
CHL1	0	.	GRCh38	chr3	390814	390814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacgtctgaaaggctatCaggtttttatcatcatggtt	10	15	10	6	1	4	1	3	1	1	0	4	2	4	2	0	4	0	3	0	4	3	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2584C>A	p.Gln862Lys	p.Q862K	ENST00000256509	21/28	134	104	30	139	139	0	strelka-mutect	CHL1,missense_variant,p.Gln862Lys,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Gln862Lys,ENST00000620033,NM_001253388.1;CHL1,missense_variant,p.Gln846Lys,ENST00000397491,NM_001253387.1;CHL1,missense_variant,p.Gln49Lys,ENST00000445697,;CHL1,downstream_gene_variant,,ENST00000470880,;CHL1,splice_region_variant,,ENST00000453040,;	A	ENST00000256509	Transcript	missense_variant,splice_region_variant	3226/8023	2584/3675	862/1224	Q/K	Cag/Aag		1		1	CHL1	HGNC	HGNC:1939	protein_coding	YES	CCDS2556.1	ENSP00000256509	O00533		UPI000013CF0F	NM_006614.3	tolerated(1)		21/28		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF653,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	390814	390814	C	A	1	0	0	0	0	1	0	0	0	3108	840	29	2		2	CHL1	3	390814	Missense_Mutation	SNP	C	C3N-00175_TP		390814	197904745	284	10434											
IL5RA	0	.	GRCh38	chr3	3092320	3092320	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcgtacttagaaagatCatcaattattgagatgaatg	17	12	7	5	1	2	4	2	2	0	3	3	5	2	4	0	0	2	1	0	0	7	4			C3N-00175_TP	C3N-00175_NB	C	C																c.898G>T	p.Asp300Tyr	p.D300Y	ENST00000446632	9/12	171	124	47	173	173	0	strelka-varscan-mutect	IL5RA,missense_variant,p.Asp300Tyr,ENST00000446632,NM_175726.3;IL5RA,missense_variant,p.Asp300Tyr,ENST00000438560,NM_001243099.1;IL5RA,missense_variant,p.Asp300Tyr,ENST00000256452,NM_000564.4;IL5RA,missense_variant,p.Asp300Tyr,ENST00000383846,NM_175728.2;IL5RA,missense_variant,p.Asp300Tyr,ENST00000430514,NM_175724.2;IL5RA,missense_variant,p.Asp300Tyr,ENST00000456302,NM_175727.2;IL5RA,missense_variant,p.Asp300Tyr,ENST00000311981,NM_175725.2;IL5RA,intron_variant,,ENST00000418488,;	A	ENST00000446632	Transcript	missense_variant	1473/2514	898/1263	300/420	D/Y	Gat/Tat	COSM3592392,COSM3592393	1		-1	IL5RA	HGNC	HGNC:6017	protein_coding	YES	CCDS2559.1	ENSP00000412209	Q01344	A0A024R2C8	UPI000013C656	NM_175726.3	tolerated(0.1)		9/12		PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF17,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Superfamily_domains:SSF49265											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1181321792	.												A	3	1	39	3092320	3092320	C	A	1	0	0	0	0	1	0	0	0	7604	826	29	2		2	IL5RA	3	3092320	Missense_Mutation	SNP	C	C3N-00175_TP	2701506	3092320	195203239	285	10435											
GRM7	0	.	GRCh38	chr3	6861592	6861592	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcggagtgccctgcggCgacatcaagagggaaaacgg	11	3	15	12	4	1	1	1	0	0	1	1	4	1	3	2	4	4	0	2	4	3	0			C3N-00175_TP	C3N-00175_NB	C	C																c.204C>G	p.=	p.G68G	ENST00000357716	1/10	85	71	14	101	101	0	strelka-varscan-mutect	GRM7,synonymous_variant,p.=,ENST00000486284,NM_181874.2;GRM7,synonymous_variant,p.=,ENST00000357716,NM_000844.3;GRM7,synonymous_variant,p.=,ENST00000389336,;GRM7,intron_variant,,ENST00000448328,;GRM7,synonymous_variant,p.=,ENST00000467425,;GRM7,synonymous_variant,p.=,ENST00000440923,;GRM7,synonymous_variant,p.=,ENST00000389335,;GRM7,intron_variant,,ENST00000443259,;GRM7,upstream_gene_variant,,ENST00000435689,;	G	ENST00000357716	Transcript	synonymous_variant	478/4127	204/2748	68/915	G	ggC/ggG	COSM2784348,COSM4326860,COSM4326861	1		1	GRM7	HGNC	HGNC:4599	protein_coding	YES	CCDS43042.1	ENSP00000350348	Q14831		UPI000004A7E3	NM_000844.3			1/10		hmmpanther:PTHR24060:SF98,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		rs985362954	.												G	2	3	39	6861592	6861592	C	G	1	0	0	0	0	0	0	0	1	6684	755	27	4		4	GRM7	3	6861592	Silent	SNP	C	C3N-00175_TP	3769272	6861592	191433967	286	10436											
RAD18	0	.	GRCh38	chr3	8939581	8939581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttccttcttctcttcgCgtgataaacagctgtctaaa	8	15	7	11	2	3	1	0	1	3	0	6	1	4	1	1	1	2	2	1	1	4	6	rs368107670		C3N-00175_TP	C3N-00175_NB	C	C																c.677G>T	p.Arg226Leu	p.R226L	ENST00000264926	6/13	137	101	36	136	135	1	strelka-varscan-mutect	RAD18,missense_variant,p.Arg226Leu,ENST00000264926,NM_020165.3;RAD18,downstream_gene_variant,,ENST00000421052,;RAD18,downstream_gene_variant,,ENST00000413832,;RAD18,downstream_gene_variant,,ENST00000418463,;RAD18,downstream_gene_variant,,ENST00000495087,;RAD18,missense_variant,p.Arg226Leu,ENST00000415439,;	A	ENST00000264926	Transcript	missense_variant	794/5886	677/1488	226/495	R/L	cGc/cTc	rs368107670	1		-1	RAD18	HGNC	HGNC:18278	protein_coding	YES	CCDS2571.1	ENSP00000264926	Q9NS91		UPI000013D592	NM_020165.3	deleterious(0)		6/13		hmmpanther:PTHR14134,hmmpanther:PTHR14134:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs368107670	.												A	3	1	39	8939581	8939581	C	A	1	0	0	0	0	1	0	0	0	13140	768	27	1		1	RAD18	3	8939581	Missense_Mutation	SNP	C	C3N-00175_TP	2077989	8939581	189355978	287	10437											
RPUSD3	0	.	GRCh38	chr3	9840779	9840779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagctgtctggggacagctgGagaggagtacaagcccagag	11	6	16	8	0	1	2	0	0	1	2	1	5	1	4	1	4	4	3	1	4	3	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.434C>A	p.Ser145Tyr	p.S145Y	ENST00000383820	5/9	124	101	23	146	146	0	strelka-varscan-mutect	RPUSD3,missense_variant,p.Ser145Tyr,ENST00000383820,NM_173659.3;RPUSD3,missense_variant,p.Ser130Tyr,ENST00000433535,NM_001142547.1;RPUSD3,missense_variant,p.Ser113Tyr,ENST00000424438,;RPUSD3,missense_variant,p.Ser141Tyr,ENST00000418713,;RPUSD3,missense_variant,p.Ser136Tyr,ENST00000427174,;TTLL3,intron_variant,,ENST00000455274,;TTLL3,downstream_gene_variant,,ENST00000383827,;RPUSD3,downstream_gene_variant,,ENST00000433972,;RPUSD3,downstream_gene_variant,,ENST00000433555,;RPUSD3,upstream_gene_variant,,ENST00000423108,;RPUSD3,downstream_gene_variant,,ENST00000485705,;RPUSD3,downstream_gene_variant,,ENST00000473522,;RPUSD3,non_coding_transcript_exon_variant,,ENST00000484134,;RPUSD3,non_coding_transcript_exon_variant,,ENST00000475470,;RPUSD3,non_coding_transcript_exon_variant,,ENST00000464783,;RPUSD3,non_coding_transcript_exon_variant,,ENST00000472381,;TTLL3,downstream_gene_variant,,ENST00000483051,;RPUSD3,upstream_gene_variant,,ENST00000466141,;RPUSD3,downstream_gene_variant,,ENST00000451405,;RPUSD3,downstream_gene_variant,,ENST00000460909,;	T	ENST00000383820	Transcript	missense_variant	436/1225	434/1056	145/351	S/Y	tCc/tAc		1		-1	RPUSD3	HGNC	HGNC:28437	protein_coding	YES	CCDS2586.2	ENSP00000373331	Q6P087		UPI000066D9E0	NM_173659.3	deleterious(0)		5/9		hmmpanther:PTHR11079,hmmpanther:PTHR11079:SF93,Pfam_domain:PF00849,Superfamily_domains:SSF55120																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	9840779	9840779	G	T	1	0	0	0	0	1	0	0	0	13923	1174	41	2		2	RPUSD3	3	9840779	Missense_Mutation	SNP	G	C3N-00175_TP	901198	9840779	188454780	288	10438											
SLC6A6	0	.	GRCh38	chr3	14478529	14478529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcggtgtatgccttttgtggGttgcattctttgaatgtttt	4	20	12	5	1	1	1	0	1	1	0	1	1	1	1	1	2	2	4	1	2	2	8	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1714G>T	p.Val572Phe	p.V572F	ENST00000613060	12/15	256	205	51	306	306	0	strelka-varscan-mutect	SLC6A6,missense_variant,p.Val471Phe,ENST00000622186,NM_003043.5;SLC6A6,missense_variant,p.Val572Phe,ENST00000613060,NM_001134367.3;SLC6A6,intron_variant,,ENST00000452151,;SLC6A6,3_prime_UTR_variant,,ENST00000618278,;SLC6A6,3_prime_UTR_variant,,ENST00000610642,;	T	ENST00000613060	Transcript	missense_variant	1732/6526	1714/2166	572/721	V/F	Gtt/Ttt		1		1	SLC6A6	HGNC	HGNC:11052	protein_coding	YES	CCDS77704.1	ENSP00000481625		A0A087WY96	UPI0004449BB2	NM_001134367.3	tolerated(0.18)		12/15		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF171,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	14478529	14478529	G	T	1	0	0	0	0	1	0	0	0	14971	1261	44	2		2	SLC6A6	3	14478529	Missense_Mutation	SNP	G	C3N-00175_TP	4637750	14478529	183817030	289	10439											
C3orf20	0	.	GRCh38	chr3	14684286	14684286	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcgctttgtggaggccAgccagctcctccacctcaat	7	8	10	16	1	1	0	1	0	0	0	3	1	3	1	6	3	2	2	6	3	1	1	rs144138671		C3N-00175_TP	C3N-00175_NB	A	A																c.529A>T	p.Ser177Cys	p.S177C	ENST00000253697	4/17	149	123	26	219	219	0	strelka-varscan-mutect	C3orf20,missense_variant,p.Ser177Cys,ENST00000253697,NM_032137.4;C3orf20,missense_variant,p.Ser55Cys,ENST00000435614,NM_001184958.1;C3orf20,missense_variant,p.Ser55Cys,ENST00000412910,NM_001184957.1;	T	ENST00000253697	Transcript	missense_variant	981/3326	529/2715	177/904	S/C	Agc/Tgc	rs144138671	1		1	C3orf20	HGNC	HGNC:25320	protein_coding	YES	CCDS33706.1	ENSP00000253697	Q8ND61		UPI000013CDE9	NM_032137.4	deleterious(0)		4/17		hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF16																	MODERATE	1	SNV	1			1										PASS		rs144138671	.												T	3	4	39	14684286	14684286	A	T	1	0	0	0	0	1	0	0	0	2061	188	7	4		4	C3orf20	3	14684286	Missense_Mutation	SNP	A	C3N-00175_TP	205757	14684286	183611273	290	10440											
C3orf20	0	.	GRCh38	chr3	14703202	14703202	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaacccctgccaacagccTggagttcagcgacccctgcc	8	5	11	17	1	1	0	1	0	0	0	1	3	1	2	7	2	6	1	7	2	2	1	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.818T>A	p.Leu273Gln	p.L273Q	ENST00000253697	6/17	212	172	40	237	237	0	strelka-varscan-mutect	C3orf20,missense_variant,p.Leu273Gln,ENST00000253697,NM_032137.4;C3orf20,missense_variant,p.Leu151Gln,ENST00000435614,NM_001184958.1;C3orf20,missense_variant,p.Leu151Gln,ENST00000412910,NM_001184957.1;C3orf20,upstream_gene_variant,,ENST00000495387,;	A	ENST00000253697	Transcript	missense_variant	1270/3326	818/2715	273/904	L/Q	cTg/cAg		1		1	C3orf20	HGNC	HGNC:25320	protein_coding	YES	CCDS33706.1	ENSP00000253697	Q8ND61		UPI000013CDE9	NM_032137.4	tolerated(0.06)		6/17		hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	14703202	14703202	T	A	1	0	0	0	0	1	0	0	0	2061	1580	55	4		4	C3orf20	3	14703202	Missense_Mutation	SNP	T	C3N-00175_TP	18916	14703202	183592357	291	10441											
CAPN7	0	.	GRCh38	chr3	15217475	15217475	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaacatcagttggacttaGagcgtgctcatttccttgtt	10	14	8	9	1	2	1	2	0	0	1	3	2	3	2	1	1	3	3	1	1	3	5	rs760107220		C3N-00175_TP	C3N-00175_NB	G	G																c.262G>T	p.Glu88Ter	p.E88*	ENST00000253693	3/21	124	100	24	162	162	0	strelka-varscan-mutect	CAPN7,stop_gained,p.Glu88Ter,ENST00000253693,NM_014296.2;CAPN7,3_prime_UTR_variant,,ENST00000457023,;CAPN7,3_prime_UTR_variant,,ENST00000418994,;	T	ENST00000253693	Transcript	stop_gained	515/4353	262/2442	88/813	E/*	Gag/Tag	rs760107220	1		1	CAPN7	HGNC	HGNC:1484	protein_coding	YES	CCDS2624.1	ENSP00000253693	Q9Y6W3		UPI0000038A6D	NM_014296.2			3/21		Gene3D:1.20.58.280,Pfam_domain:PF04212,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF22,SMART_domains:SM00745,Superfamily_domains:SSF116846																	HIGH	1	SNV	1			1										PASS		rs760107220	.												T	4	4	39	15217475	15217475	G	T	1	0	0	0	0	0	1	0	0	2325	943	33	2		2	CAPN7	3	15217475	Nonsense_Mutation	SNP	G	C3N-00175_TP	514273	15217475	183078084	292	10442											
TBC1D5	0	.	GRCh38	chr3	17404898	17404898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaatgttgctataccatgCtcttaattcttcaattctac	10	19	3	9	0	4	0	1	0	3	0	4	0	4	0	1	0	4	3	1	0	6	10	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.340G>T	p.Ala114Ser	p.A114S	ENST00000446818	7/24	42	35	7	58	58	0	strelka-varscan-mutect	TBC1D5,missense_variant,p.Ala114Ser,ENST00000253692,NM_014744.2;TBC1D5,missense_variant,p.Ala114Ser,ENST00000429383,;TBC1D5,missense_variant,p.Ala114Ser,ENST00000446818,NM_001134381.1;TBC1D5,missense_variant,p.Ala66Ser,ENST00000429924,;TBC1D5,missense_variant,p.Ala114Ser,ENST00000415814,;TBC1D5,missense_variant,p.Ala114Ser,ENST00000428355,;TBC1D5,missense_variant,p.Ala114Ser,ENST00000445294,;TBC1D5,missense_variant,p.Ala114Ser,ENST00000425944,;TBC1D5,downstream_gene_variant,,ENST00000414349,;TBC1D5,downstream_gene_variant,,ENST00000507877,;TBC1D5,downstream_gene_variant,,ENST00000446863,;TBC1D5,downstream_gene_variant,,ENST00000434420,;TBC1D5,intron_variant,,ENST00000414318,;TBC1D5,downstream_gene_variant,,ENST00000443499,;TBC1D5,downstream_gene_variant,,ENST00000497531,;TBC1D5,downstream_gene_variant,,ENST00000443386,;TBC1D5,downstream_gene_variant,,ENST00000444756,;TBC1D5,3_prime_UTR_variant,,ENST00000412981,;TBC1D5,3_prime_UTR_variant,,ENST00000452492,;TBC1D5,3_prime_UTR_variant,,ENST00000430169,;	A	ENST00000446818	Transcript	missense_variant	604/3124	340/2454	114/817	A/S	Gca/Tca		1		-1	TBC1D5	HGNC	HGNC:19166	protein_coding	YES	CCDS46770.1	ENSP00000402935	Q92609		UPI00017E10F6	NM_001134381.1	tolerated(0.42)		7/24		PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF28,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	17404898	17404898	C	A	1	0	0	0	0	1	0	0	0	16028	797	28	2		2	TBC1D5	3	17404898	Missense_Mutation	SNP	C	C3N-00175_TP	2187423	17404898	180890661	293	10443											
KCNH8	0	.	GRCh38	chr3	19390499	19390499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatattattttaaatttccGaacaacttatgtcagcaagt	15	15	5	6	1	1	1	1	0	0	1	2	2	2	1	1	0	3	1	1	0	8	6	rs760239055		C3N-00175_TP	C3N-00175_NB	G	G																c.830G>A	p.Arg277Gln	p.R277Q	ENST00000328405	6/16	114	90	24	123	123	0	varscan-mutect	KCNH8,missense_variant,p.Arg277Gln,ENST00000328405,NM_144633.2;KCNH8,non_coding_transcript_exon_variant,,ENST00000475063,;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	A	ENST00000328405	Transcript	missense_variant	1096/5137	830/3324	277/1107	R/Q	cGa/cAa	rs760239055,COSM5011068	1		1	KCNH8	HGNC	HGNC:18864	protein_coding	YES	CCDS2632.1	ENSP00000328813	Q96L42		UPI0000167D12	NM_144633.2	deleterious(0.01)		6/16		Transmembrane_helices:TMhelix,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR01463											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs760239055	.												A	3	1	39	19390499	19390499	G	A	1	0	0	0	0	1	0	0	0	7954	1058	37	1		1	KCNH8	3	19390499	Missense_Mutation	SNP	G	C3N-00175_TP	1985601	19390499	178905060	294	10444											
OXSM	0	.	GRCh38	chr3	25791660	25791660	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcctgtaccacaggagctCatgctgtgggagactcattt	9	10	11	11	0	2	1	2	0	0	1	2	3	2	2	2	2	4	3	2	2	1	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.640C>G	p.His214Asp	p.H214D	ENST00000280701	2/3	164	143	21	185	185	0	strelka-varscan-mutect	OXSM,missense_variant,p.His214Asp,ENST00000280701,NM_017897.2;OXSM,missense_variant,p.His214Asp,ENST00000420173,NM_001145391.1;OXSM,missense_variant,p.His214Asp,ENST00000452098,;OXSM,missense_variant,p.His214Asp,ENST00000428266,;OXSM,intron_variant,,ENST00000626005,;NGLY1,upstream_gene_variant,,ENST00000417874,NM_001145294.1;OXSM,intron_variant,,ENST00000449808,;OXSM,downstream_gene_variant,,ENST00000464688,;OXSM,intron_variant,,ENST00000448177,;	G	ENST00000280701	Transcript	missense_variant	739/1519	640/1380	214/459	H/D	Cat/Gat		1		1	OXSM	HGNC	HGNC:26063	protein_coding	YES	CCDS2643.1	ENSP00000280701	Q9NWU1	A0A024R2Q9	UPI000004713F	NM_017897.2	deleterious(0)		2/3		hmmpanther:PTHR11712:SF273,hmmpanther:PTHR11712,PROSITE_patterns:PS00606,TIGRFAM_domain:TIGR03150,Pfam_domain:PF00109,Gene3D:3.40.47.10,PIRSF_domain:PIRSF000447,SMART_domains:SM00825,Superfamily_domains:SSF53901																	MODERATE	1	SNV	1			1										PASS		rs1481250820	.												G	3	3	39	25791660	25791660	C	G	1	0	0	0	0	1	0	0	0	11408	826	29	4		4	OXSM	3	25791660	Missense_Mutation	SNP	C	C3N-00175_TP	6401161	25791660	172503899	295	10445											
LRRC3B	0	.	GRCh38	chr3	26709725	26709725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctccatgtgtctcctccTacaaagttttgttcttatga	7	17	5	12	0	3	1	0	1	3	0	6	1	4	1	4	0	1	2	4	0	3	5	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.53T>C	p.Leu18Pro	p.L18P	ENST00000396641	2/2	122	99	23	141	141	0	strelka-varscan-mutect	LRRC3B,missense_variant,p.Leu18Pro,ENST00000396641,NM_052953.2;LRRC3B,missense_variant,p.Leu18Pro,ENST00000417744,NM_001317810.1;LRRC3B,missense_variant,p.Leu18Pro,ENST00000456208,NM_001317811.1;LRRC3B,missense_variant,p.Leu18Pro,ENST00000432040,;LRRC3B,missense_variant,p.Leu18Pro,ENST00000414619,;AC114877.3,upstream_gene_variant,,ENST00000446601,;LRRC3B,downstream_gene_variant,,ENST00000469437,;	C	ENST00000396641	Transcript	missense_variant	645/1696	53/780	18/259	L/P	cTa/cCa		1		1	LRRC3B	HGNC	HGNC:28105	protein_coding	YES	CCDS2644.1	ENSP00000379880	Q96PB8	A0A024R2R0	UPI000000D990	NM_052953.2	deleterious(0.01)		2/2		hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF346,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs755477193	.												C	3	2	39	26709725	26709725	T	C	1	0	0	0	0	1	0	0	0	8891	1522	53	5		5	LRRC3B	3	26709725	Missense_Mutation	SNP	T	C3N-00175_TP	918065	26709725	171585834	296	10446											
SLC4A7	0	.	GRCh38	chr3	27418542	27418542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaaggatcccactctcctgGaggtaggacagttacttgat	11	10	11	9	0	1	2	0	1	1	1	3	5	2	5	2	4	1	2	2	4	3	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1576C>T	p.Pro526Ser	p.P526S	ENST00000295736	11/25	190	144	46	228	228	0	strelka-varscan-mutect	SLC4A7,missense_variant,p.Pro511Ser,ENST00000425128,NM_001321105.1,NM_001321106.1;SLC4A7,missense_variant,p.Pro526Ser,ENST00000295736,NM_003615.4;SLC4A7,missense_variant,p.Pro402Ser,ENST00000428386,NM_001321107.1,NM_001258380.1;SLC4A7,missense_variant,p.Pro77Ser,ENST00000419036,;SLC4A7,missense_variant,p.Pro535Ser,ENST00000454389,;SLC4A7,missense_variant,p.Pro522Ser,ENST00000440156,;SLC4A7,missense_variant,p.Pro522Ser,ENST00000445684,;SLC4A7,missense_variant,p.Pro518Ser,ENST00000446700,;SLC4A7,missense_variant,p.Pro407Ser,ENST00000455077,NM_001258379.1;SLC4A7,missense_variant,p.Pro407Ser,ENST00000437179,;SLC4A7,missense_variant,p.Pro422Ser,ENST00000428179,;SLC4A7,missense_variant,p.Pro518Ser,ENST00000438530,;SLC4A7,missense_variant,p.Pro407Ser,ENST00000457377,;SLC4A7,missense_variant,p.Pro407Ser,ENST00000437266,;SLC4A7,downstream_gene_variant,,ENST00000491211,;	A	ENST00000295736	Transcript	missense_variant	1647/7757	1576/3645	526/1214	P/S	Cca/Tca		1		-1	SLC4A7	HGNC	HGNC:11033	protein_coding	YES	CCDS33721.1	ENSP00000295736	Q9Y6M7		UPI0000DBEEB7	NM_003615.4	deleterious(0)		11/25		Gene3D:1hynR00,Pfam_domain:PF07565,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF36,Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	27418542	27418542	G	A	1	0	0	0	0	1	0	0	0	14935	1174	41	3		3	SLC4A7	3	27418542	Missense_Mutation	SNP	G	C3N-00175_TP	708817	27418542	170877017	297	10447											
TRANK1	0	.	GRCh38	chr3	36857816	36857816	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcagagagtcgttcttctTaatccggtgccgtgcatctt	7	13	11	10	3	3	1	0	0	3	1	5	3	4	1	2	1	3	3	2	1	1	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1774A>T	p.Lys592Ter	p.K592*	ENST00000429976	12/23	192	143	49	223	223	0	strelka-varscan-mutect	TRANK1,stop_gained,p.Lys592Ter,ENST00000429976,NM_014831.2;	A	ENST00000429976	Transcript	stop_gained	2022/10481	1774/8778	592/2925	K/*	Aag/Tag		1		-1	TRANK1	HGNC	HGNC:29011	protein_coding	YES	CCDS46789.2	ENSP00000416168	O15050		UPI00017BE82B	NM_014831.2			12/23		hmmpanther:PTHR21529,hmmpanther:PTHR21529:SF4,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	39	36857816	36857816	T	A	1	0	0	0	0	0	1	0	0	16937	1763	61	4		4	TRANK1	3	36857816	Nonsense_Mutation	SNP	T	C3N-00175_TP	9439274	36857816	161437743	298	10448											
SCN5A	0	.	GRCh38	chr3	38603933	38603933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccagcagtgatgtgtggtGgctctcgctctcccccgctg	4	10	12	15	2	2	1	0	1	2	0	4	1	2	1	3	2	1	4	3	2	0	0	rs766204238		C3N-00175_TP	C3N-00175_NB	G	G																c.1669C>A	p.His557Asn	p.H557N	ENST00000413689	12/28	269	221	48	298	298	0	strelka-varscan-mutect	SCN5A,missense_variant,p.His557Asn,ENST00000413689,NM_001099404.1;SCN5A,missense_variant,p.His557Asn,ENST00000333535,NM_198056.2;SCN5A,missense_variant,p.His557Asn,ENST00000425664,NM_001099405.1;SCN5A,missense_variant,p.His557Asn,ENST00000423572,NM_000335.4;SCN5A,missense_variant,p.His557Asn,ENST00000451551,NM_001160161.1;SCN5A,missense_variant,p.His557Asn,ENST00000414099,;SCN5A,missense_variant,p.His557Asn,ENST00000455624,NM_001160160.1;SCN5A,missense_variant,p.His557Asn,ENST00000450102,;SCN5A,missense_variant,p.His557Asn,ENST00000449557,;	T	ENST00000413689	Transcript	missense_variant	1863/8504	1669/6051	557/2016	H/N	Cac/Aac	rs766204238	1		-1	SCN5A	HGNC	HGNC:10593	protein_coding	YES	CCDS46799.1	ENSP00000410257		H9KVD2	UPI0001572CC8	NM_001099404.1	tolerated(0.14)		12/28		Pfam_domain:PF11933,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF206																	MODERATE	1	SNV	5			1										PASS		rs766204238	.												T	3	4	39	38603933	38603933	G	T	1	0	0	0	0	1	0	0	0	14191	1348	47	2		2	SCN5A	3	38603933	Missense_Mutation	SNP	G	C3N-00175_TP	1746117	38603933	159691626	299	10449											
XIRP1	0	.	GRCh38	chr3	39184328	39184328	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctggtggagcagggcctgGcctatgtcctgagccagttg	5	11	15	10	0	1	1	0	1	1	0	2	2	2	2	4	4	2	2	4	4	1	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.5118C>A	p.=	p.G1706G	ENST00000340369	2/2	181	125	56	211	211	0	strelka-varscan-mutect	XIRP1,synonymous_variant,p.=,ENST00000340369,NM_194293.2;XIRP1,synonymous_variant,p.=,ENST00000421646,;XIRP1,3_prime_UTR_variant,,ENST00000396251,NM_001198621.2;	T	ENST00000340369	Transcript	synonymous_variant	5347/6460	5118/5532	1706/1843	G	ggC/ggA		1		-1	XIRP1	HGNC	HGNC:14301	protein_coding	YES	CCDS2683.1	ENSP00000343140	Q702N8		UPI00001BFB06	NM_194293.2			2/2		hmmpanther:PTHR22591																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	39184328	39184328	G	T	1	0	0	0	0	0	0	0	1	17988	1190	42	2		2	XIRP1	3	39184328	Silent	SNP	G	C3N-00175_TP	580395	39184328	159111231	300	10450											
XIRP1	0	.	GRCh38	chr3	39185853	39185853	+	Frame_Shift_Del	DEL	C	C	-																															cccaggccatctgtgtgcagCccccaggctcctcccgccct																								rs773246482		C3N-00175_TP	C3N-00175_NB	C	C																c.3593delG	p.Gly1198AlafsTer29	p.G1198Afs*29	ENST00000340369	2/2	112	91	21	127	127	0	sindel-varindel-pindel	XIRP1,frameshift_variant,p.Gly1198AlafsTer29,ENST00000340369,NM_194293.2;XIRP1,intron_variant,,ENST00000396251,NM_001198621.2;XIRP1,intron_variant,,ENST00000421646,;	-	ENST00000340369	Transcript	frameshift_variant	3822/6460	3593/5532	1198/1843	G/X	gGc/gc	rs773246482,COSM5136362	1		-1	XIRP1	HGNC	HGNC:14301	protein_coding	YES	CCDS2683.1	ENSP00000343140	Q702N8		UPI00001BFB06	NM_194293.2			2/2		hmmpanther:PTHR22591											0,1						HIGH	1	deletion	1		0,1	1										PASS		.	.												-	7	5	39	39185853	39185853	C	-	1	0	1	0	1	0	0	0	0	17988	739	26	0		0	XIRP1	3	39185853	Frame_Shift_Del	DEL	C	C3N-00175_TP	1525	39185853	159109706	301	10451											
TRAK1	0	.	GRCh38	chr3	42184796	42184796	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaggtggaacacatcaggGaggaggtaagacattggagg	14	5	17	5	0	1	1	1	0	0	1	1	5	1	5	0	7	2	2	0	7	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.475G>T	p.Glu159Ter	p.E159*	ENST00000327628	4/16	87	66	21	113	113	0	strelka-varscan-mutect	TRAK1,stop_gained,p.Glu55Ter,ENST00000487159,;TRAK1,stop_gained,p.Glu159Ter,ENST00000327628,NM_001042646.2,NM_001265608.1;TRAK1,stop_gained,p.Glu101Ter,ENST00000396175,;TRAK1,stop_gained,p.Glu85Ter,ENST00000613405,NM_001265609.1;TRAK1,stop_gained,p.Glu101Ter,ENST00000341421,NM_014965.4;TRAK1,stop_gained,p.Glu85Ter,ENST00000449246,NM_001265610.1;TRAK1,stop_gained,p.Glu55Ter,ENST00000484786,;TRAK1,non_coding_transcript_exon_variant,,ENST00000469506,;TRAK1,downstream_gene_variant,,ENST00000418790,;	T	ENST00000327628	Transcript	stop_gained	875/5293	475/2862	159/953	E/*	Gag/Tag		1		1	TRAK1	HGNC	HGNC:29947	protein_coding	YES	CCDS43072.1	ENSP00000328998	Q9UPV9	A0A024R2M0	UPI0000139F52	NM_001042646.2,NM_001265608.1			4/16		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF04849,hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF11																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	39	42184796	42184796	G	T	1	0	0	0	0	0	1	0	0	16932	1188	41	2		2	TRAK1	3	42184796	Nonsense_Mutation	SNP	G	C3N-00175_TP	2998943	42184796	156110763	302	10452											
ABHD5	0	.	GRCh38	chr3	43702534	43702534	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacaaaatgatcttgcttggGcacaacctaggtggattctt	11	12	10	8	0	2	1	0	1	2	0	2	3	2	2	1	3	2	2	1	3	4	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.453G>T	p.=	p.G151G	ENST00000458276	3/7	246	188	58	275	275	0	strelka-varscan-mutect	ABHD5,synonymous_variant,p.=,ENST00000458276,NM_016006.4;ABHD5,synonymous_variant,p.=,ENST00000456453,;ABHD5,downstream_gene_variant,,ENST00000454293,;ABHD5,3_prime_UTR_variant,,ENST00000013894,;ABHD5,downstream_gene_variant,,ENST00000486764,;	T	ENST00000458276	Transcript	synonymous_variant	576/1690	453/1050	151/349	G	ggG/ggT		1		1	ABHD5	HGNC	HGNC:21396	protein_coding	YES	CCDS2711.1	ENSP00000390849	Q8WTS1	A0A0S2Z5D6	UPI00000411E4	NM_016006.4			3/7		hmmpanther:PTHR10992:SF787,hmmpanther:PTHR10992,Gene3D:3.40.50.1820,Pfam_domain:PF00561,Superfamily_domains:SSF53474,Prints_domain:PR00111																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	43702534	43702534	G	T	1	0	0	0	0	0	0	0	1	95	1190	42	2		2	ABHD5	3	43702534	Silent	SNP	G	C3N-00175_TP	1517738	43702534	154593025	303	10453											
TOPAZ1	0	.	GRCh38	chr3	44244728	44244728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtctccatgatgatgttagGacctcaaactttgagcatac	11	13	8	9	0	2	3	1	3	1	0	3	4	2	4	2	1	3	2	2	1	3	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2222G>T	p.Gly741Val	p.G741V	ENST00000309765	2/20	145	114	31	148	147	1	strelka-varscan-mutect	TOPAZ1,missense_variant,p.Gly741Val,ENST00000309765,NM_001145030.1;	T	ENST00000309765	Transcript	missense_variant	2390/5334	2222/5079	741/1692	G/V	gGa/gTa		1		1	TOPAZ1	HGNC	HGNC:24746	protein_coding	YES	CCDS46809.1	ENSP00000310303	Q8N9V7		UPI000047FF75	NM_001145030.1	tolerated(0.21)		2/20		hmmpanther:PTHR35671,hmmpanther:PTHR35671:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	44244728	44244728	G	T	1	0	0	0	0	1	0	0	0	16845	1174	41	2		2	TOPAZ1	3	44244728	Missense_Mutation	SNP	G	C3N-00175_TP	542194	44244728	154050831	304	10454											
ZNF501	0	.	GRCh38	chr3	44734981	44734981	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagaattcattcaggagAgaagccctacacatgcactg	14	8	9	10	0	3	2	3	0	0	2	3	5	3	3	1	1	3	1	1	1	3	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.560A>T	p.Glu187Val	p.E187V	ENST00000620116	3/3	165	139	26	190	190	0	strelka-varscan-mutect	ZNF501,missense_variant,p.Glu187Val,ENST00000620116,NM_001258280.1;ZNF501,missense_variant,p.Glu187Val,ENST00000396048,NM_145044.3;ZNF501,downstream_gene_variant,,ENST00000491543,;KIAA1143,downstream_gene_variant,,ENST00000484437,;ZNF501,downstream_gene_variant,,ENST00000484233,;ZNF501,downstream_gene_variant,,ENST00000486486,;	T	ENST00000620116	Transcript	missense_variant	1280/3382	560/816	187/271	E/V	gAg/gTg		1		1	ZNF501	HGNC	HGNC:23717	protein_coding	YES	CCDS2720.2	ENSP00000482632	Q96CX3		UPI00005A76A1	NM_001258280.1	deleterious_low_confidence(0.02)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF291,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	4			1										PASS		.	.												T	3	4	39	44734981	44734981	A	T	1	0	0	0	0	1	0	0	0	18521	304	11	4		4	ZNF501	3	44734981	Missense_Mutation	SNP	A	C3N-00175_TP	490253	44734981	153560578	305	10455											
CCR3	0	.	GRCh38	chr3	46265654	46265654	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctggcagtgctagcagctCttcctgaatttatcttctat	7	15	8	11	0	3	1	0	1	3	0	4	1	4	1	2	1	3	4	2	1	4	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.559C>G	p.Leu187Val	p.L187V	ENST00000545097	3/3	171	150	21	154	154	0	strelka-varscan-mutect	CCR3,missense_variant,p.Leu166Val,ENST00000357422,;CCR3,missense_variant,p.Leu187Val,ENST00000545097,NM_001164680.1,NM_178328.1;CCR3,missense_variant,p.Leu166Val,ENST00000395940,NM_178329.2,NM_001837.3;CCR3,missense_variant,p.Leu166Val,ENST00000395942,;CCR3,downstream_gene_variant,,ENST00000452454,;CCR3,downstream_gene_variant,,ENST00000457243,;CCR3,downstream_gene_variant,,ENST00000475150,;CCR3,downstream_gene_variant,,ENST00000484025,;	G	ENST00000545097	Transcript	missense_variant	734/1786	559/1131	187/376	L/V	Ctt/Gtt		1		1	CCR3	HGNC	HGNC:1604	protein_coding	YES	CCDS54574.1	ENSP00000441600	P51677		UPI000020A60F	NM_001164680.1,NM_178328.1	tolerated(0.45)		3/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF649,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01108,Prints_domain:PR00237																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	46265654	46265654	C	G	1	0	0	0	0	1	0	0	0	2642	913	32	4		4	CCR3	3	46265654	Missense_Mutation	SNP	C	C3N-00175_TP	1530673	46265654	152029905	306	10456											
KLHL18	0	.	GRCh38	chr3	47343930	47343930	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgggctgcatccctctcCtcaccatctaaggcagagga	8	9	11	13	0	3	1	1	0	2	1	5	2	4	2	3	3	1	3	3	3	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1714C>G	p.Leu572Val	p.L572V	ENST00000232766	10/10	163	144	19	181	181	0	strelka-mutect	KLHL18,missense_variant,p.Leu572Val,ENST00000232766,NM_025010.4;RP11-447D11.3,upstream_gene_variant,,ENST00000624214,;KLHL18,3_prime_UTR_variant,,ENST00000442272,;	G	ENST00000232766	Transcript	missense_variant	1734/4620	1714/1725	572/574	L/V	Ctc/Gtc		1		1	KLHL18	HGNC	HGNC:29120	protein_coding	YES	CCDS33749.1	ENSP00000232766	O94889	A0A024R2T4	UPI00004703A5	NM_025010.4	deleterious_low_confidence(0.05)		10/10		hmmpanther:PTHR24412:SF210,hmmpanther:PTHR24412,PIRSF_domain:PIRSF037037																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	47343930	47343930	C	G	1	0	0	0	0	1	0	0	0	8237	681	24	4		4	KLHL18	3	47343930	Missense_Mutation	SNP	C	C3N-00175_TP	1078276	47343930	150951629	307	10457											
MAP4	0	.	GRCh38	chr3	47916827	47916827	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctgtgggcagtaccaCattcttggctgaagatacat	9	14	10	8	0	2	2	0	1	2	1	2	2	2	2	1	2	2	4	1	2	3	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1000G>T	p.Val334Leu	p.V334L	ENST00000360240	7/19	309	232	77	284	283	1	strelka-varscan-mutect	MAP4,missense_variant,p.Val351Leu,ENST00000426837,;MAP4,missense_variant,p.Val334Leu,ENST00000395734,NM_001134364.1;MAP4,missense_variant,p.Val334Leu,ENST00000360240,NM_002375.4;MAP4,downstream_gene_variant,,ENST00000423088,;MAP4,intron_variant,,ENST00000482752,;	A	ENST00000360240	Transcript	missense_variant	1519/5142	1000/3459	334/1152	V/L	Gtg/Ttg		1		-1	MAP4	HGNC	HGNC:6862	protein_coding	YES	CCDS33750.1	ENSP00000353375	P27816		UPI000020A6A4	NM_002375.4	tolerated(0.09)		7/19		hmmpanther:PTHR11501:SF16,hmmpanther:PTHR11501																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	47916827	47916827	C	A	1	0	0	0	0	1	0	0	0	9182	478	17	2		2	MAP4	3	47916827	Missense_Mutation	SNP	C	C3N-00175_TP	572897	47916827	150378732	308	10458											
SLC26A6	0	.	GRCh38	chr3	48628691	48628691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgaggagcggaagacCttcaccccccggacttcctt	7	7	12	15	3	1	1	1	0	0	1	2	5	2	4	6	4	1	0	6	4	1	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1623G>T	p.Lys541Asn	p.K541N	ENST00000395550	15/21	200	159	41	292	292	0	strelka-varscan-mutect	SLC26A6,missense_variant,p.Lys520Asn,ENST00000358747,NM_001040454.1;SLC26A6,missense_variant,p.Lys541Asn,ENST00000420764,NM_134263.2;SLC26A6,missense_variant,p.Lys541Asn,ENST00000395550,NM_022911.2;SLC26A6,missense_variant,p.Lys541Asn,ENST00000383733,NM_134426.2;SLC26A6,missense_variant,p.Lys505Asn,ENST00000455886,NM_001281732.1;SLC26A6,missense_variant,p.Lys434Asn,ENST00000337000,NM_001281733.1;SLC26A6,downstream_gene_variant,,ENST00000421649,;SLC26A6,downstream_gene_variant,,ENST00000431739,;SLC26A6,downstream_gene_variant,,ENST00000426599,;SLC26A6,downstream_gene_variant,,ENST00000611478,;SLC26A6,downstream_gene_variant,,ENST00000482282,;SLC26A6,3_prime_UTR_variant,,ENST00000307364,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000480524,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000496469,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000462009,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000469693,;SLC26A6,intron_variant,,ENST00000489483,;SLC26A6,downstream_gene_variant,,ENST00000444531,;SLC26A6,downstream_gene_variant,,ENST00000414944,;SLC26A6,upstream_gene_variant,,ENST00000466257,;SLC26A6,downstream_gene_variant,,ENST00000485361,;SLC26A6,downstream_gene_variant,,ENST00000431213,;SLC26A6,downstream_gene_variant,,ENST00000494717,;	A	ENST00000395550	Transcript	missense_variant	1671/2589	1623/2280	541/759	K/N	aaG/aaT		1		-1	SLC26A6	HGNC	HGNC:14472	protein_coding	YES	CCDS43087.1	ENSP00000378920	Q9BXS9		UPI0000135460	NM_022911.2	deleterious(0)		15/21		PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF113,Gene3D:3.30.750.24,Pfam_domain:PF01740,TIGRFAM_domain:TIGR00815,Superfamily_domains:SSF52091																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	48628691	48628691	C	A	1	0	0	0	0	1	0	0	0	14791	680	24	2		2	SLC26A6	3	48628691	Missense_Mutation	SNP	C	C3N-00175_TP	711864	48628691	149666868	309	10459											
CCDC71	0	.	GRCh38	chr3	49163558	49163558	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgagggttccccggacccttCcctgaacttttccgcagttt	5	12	9	15	3	0	1	0	1	0	0	3	3	3	2	5	2	1	3	5	2	1	5			C3N-00175_TP	C3N-00175_NB	C	C																c.651G>A	p.=	p.G217G	ENST00000321895	2/2	147	135	12	197	197	0	strelka-varscan-mutect	CCDC71,synonymous_variant,p.=,ENST00000321895,NM_022903.3;RP11-694I15.7,upstream_gene_variant,,ENST00000603877,;	T	ENST00000321895	Transcript	synonymous_variant	758/1781	651/1404	217/467	G	ggG/ggA	COSM3595246	1		-1	CCDC71	HGNC	HGNC:25760	protein_coding	YES	CCDS2790.1	ENSP00000319006	Q8IV32		UPI0000072BC0	NM_022903.3			2/2		Pfam_domain:PF15374,hmmpanther:PTHR14484,hmmpanther:PTHR14484:SF0											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	39	49163558	49163558	C	T	1	0	0	0	0	0	0	0	1	2544	842	30	3		3	CCDC71	3	49163558	Silent	SNP	C	C3N-00175_TP	534867	49163558	149132001	310	10460											
BSN	0	.	GRCh38	chr3	49642609	49642609	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgcaggagaggccccGgccaaaagtgccaccgcagt	10	3	12	16	2	0	1	0	0	0	1	0	2	0	1	7	3	2	2	7	3	2	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.975G>T	p.=	p.P325P	ENST00000296452	3/12	63	49	14	51	51	0	strelka-varscan-mutect	BSN,synonymous_variant,p.=,ENST00000296452,NM_003458.3;BSN-AS1,upstream_gene_variant,,ENST00000442384,;BSN,upstream_gene_variant,,ENST00000467456,;	T	ENST00000296452	Transcript	synonymous_variant	1089/15955	975/11781	325/3926	P	ccG/ccT		1		1	BSN	HGNC	HGNC:1117	protein_coding	YES	CCDS2800.1	ENSP00000296452	Q9UPA5		UPI000013E33C	NM_003458.3			3/12		Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF1,hmmpanther:PTHR14113																	LOW	1	SNV	1			1										PASS		rs1000511324	.												T	2	4	39	49642609	49642609	G	T	1	0	0	0	0	0	0	0	1	1704	1103	39	1		1	BSN	3	49642609	Silent	SNP	G	C3N-00175_TP	479051	49642609	148652950	311	10461											
LSMEM2	0	.	GRCh38	chr3	50286522	50286522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcagggggccattggcccCcaaccacgtgcatgaggtat	9	6	14	12	1	0	1	0	1	0	0	0	2	0	1	4	4	3	3	4	4	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.110C>T	p.Pro37Leu	p.P37L	ENST00000316436	2/4	164	131	33	174	174	0	strelka-varscan-mutect	LSMEM2,missense_variant,p.Pro37Leu,ENST00000316436,NM_153215.2,NM_001304385.1;IFRD2,downstream_gene_variant,,ENST00000436390,;IFRD2,downstream_gene_variant,,ENST00000417626,NM_006764.4;IFRD2,downstream_gene_variant,,ENST00000426499,;IFRD2,downstream_gene_variant,,ENST00000484043,;IFRD2,downstream_gene_variant,,ENST00000468737,;IFRD2,downstream_gene_variant,,ENST00000474556,;IFRD2,downstream_gene_variant,,ENST00000414734,;IFRD2,downstream_gene_variant,,ENST00000489569,;IFRD2,downstream_gene_variant,,ENST00000438296,;IFRD2,downstream_gene_variant,,ENST00000464258,;IFRD2,downstream_gene_variant,,ENST00000462001,;IFRD2,downstream_gene_variant,,ENST00000483071,;IFRD2,downstream_gene_variant,,ENST00000492387,;IFRD2,downstream_gene_variant,,ENST00000486322,;IFRD2,downstream_gene_variant,,ENST00000469855,;	T	ENST00000316436	Transcript	missense_variant	197/1494	110/495	37/164	P/L	cCc/cTc		1		1	LSMEM2	HGNC	HGNC:26781	protein_coding	YES	CCDS2814.1	ENSP00000315081	Q8N112		UPI000006DE81	NM_153215.2,NM_001304385.1	tolerated(0.1)		2/4		Pfam_domain:PF15833,hmmpanther:PTHR37333,hmmpanther:PTHR37333:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	50286522	50286522	C	T	1	0	0	0	0	1	0	0	0	8969	623	22	3		3	LSMEM2	3	50286522	Missense_Mutation	SNP	C	C3N-00175_TP	643913	50286522	148009037	312	10462											
LSMEM2	0	.	GRCh38	chr3	50286753	50286753	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgccgccgtcactgtgTgcccaggctggctgcagccc	3	10	13	15	2	1	0	1	0	0	0	1	0	1	0	4	2	4	4	4	2	0	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.252T>A	p.Cys84Ter	p.C84*	ENST00000316436	3/4	208	169	39	249	248	1	strelka-varscan-mutect	LSMEM2,stop_gained,p.Cys84Ter,ENST00000316436,NM_153215.2,NM_001304385.1;IFRD2,downstream_gene_variant,,ENST00000436390,;IFRD2,downstream_gene_variant,,ENST00000417626,NM_006764.4;IFRD2,downstream_gene_variant,,ENST00000426499,;IFRD2,downstream_gene_variant,,ENST00000484043,;IFRD2,downstream_gene_variant,,ENST00000468737,;IFRD2,downstream_gene_variant,,ENST00000474556,;IFRD2,downstream_gene_variant,,ENST00000414734,;IFRD2,downstream_gene_variant,,ENST00000489569,;IFRD2,downstream_gene_variant,,ENST00000438296,;IFRD2,downstream_gene_variant,,ENST00000464258,;IFRD2,downstream_gene_variant,,ENST00000462001,;IFRD2,downstream_gene_variant,,ENST00000483071,;IFRD2,downstream_gene_variant,,ENST00000492387,;IFRD2,downstream_gene_variant,,ENST00000486322,;IFRD2,downstream_gene_variant,,ENST00000469855,;	A	ENST00000316436	Transcript	stop_gained	339/1494	252/495	84/164	C/*	tgT/tgA		1		1	LSMEM2	HGNC	HGNC:26781	protein_coding	YES	CCDS2814.1	ENSP00000315081	Q8N112		UPI000006DE81	NM_153215.2,NM_001304385.1			3/4		Pfam_domain:PF15833,hmmpanther:PTHR37333,hmmpanther:PTHR37333:SF1																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	50286753	50286753	T	A	1	0	0	0	0	0	1	0	0	8969	1702	59	4		4	LSMEM2	3	50286753	Nonsense_Mutation	SNP	T	C3N-00175_TP	231	50286753	148008806	313	10463											
DOCK3	0	.	GRCh38	chr3	51228769	51228769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctagcctcatcttccagCgcagcaccaaagagtctttc	9	11	6	15	1	4	1	1	0	3	1	6	1	5	1	3	0	3	2	3	0	2	4			C3N-00175_TP	C3N-00175_NB	C	C																c.1756C>T	p.Arg586Cys	p.R586C	ENST00000266037	18/53	126	102	24	167	167	0	strelka-varscan-mutect	DOCK3,missense_variant,p.Arg586Cys,ENST00000266037,NM_004947.4;	T	ENST00000266037	Transcript	missense_variant	1779/8755	1756/6093	586/2030	R/C	Cgc/Tgc	COSM1633236,COSM1633237	1		1	DOCK3	HGNC	HGNC:2989	protein_coding	YES	CCDS46835.1	ENSP00000266037	Q8IZD9		UPI000007412C	NM_004947.4	deleterious(0.04)		18/53		PROSITE_profiles:PS51650,hmmpanther:PTHR23317:SF66,hmmpanther:PTHR23317,Pfam_domain:PF14429											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	39	51228769	51228769	C	T	1	0	0	0	0	1	0	0	0	4503	768	27	1		1	DOCK3	3	51228769	Missense_Mutation	SNP	C	C3N-00175_TP	942016	51228769	147066790	314	10464											
IL17RD	0	.	GRCh38	chr3	57098030	57098030	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaactgcttttcgaaccagTcgggctcctcgtcaataaac	10	10	8	13	4	1	0	1	0	0	0	5	2	2	0	2	1	4	2	2	1	5	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1673A>T	p.Asp558Val	p.D558V	ENST00000296318	12/13	257	200	57	296	294	2	strelka-varscan-mutect	IL17RD,missense_variant,p.Asp558Val,ENST00000296318,NM_001318864.1,NM_017563.3;IL17RD,missense_variant,p.Asp414Val,ENST00000320057,;IL17RD,missense_variant,p.Asp414Val,ENST00000463523,;IL17RD,non_coding_transcript_exon_variant,,ENST00000469841,;	A	ENST00000296318	Transcript	missense_variant	1762/8720	1673/2220	558/739	D/V	gAc/gTc		1		-1	IL17RD	HGNC	HGNC:17616	protein_coding	YES	CCDS2880.2	ENSP00000296318	Q8NFM7		UPI0000047CC3	NM_001318864.1,NM_017563.3	deleterious(0)		12/13		hmmpanther:PTHR15583:SF14,hmmpanther:PTHR15583																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	57098030	57098030	T	A	1	0	0	0	0	1	0	0	0	7550	1667	58	4		4	IL17RD	3	57098030	Missense_Mutation	SNP	T	C3N-00175_TP	5869261	57098030	141197529	315	10465											
DNAH12	0	.	GRCh38	chr3	57415484	57415484	+	Frame_Shift_Del	DEL	T	T	-																															tataaaaaggaaagtactggTccttttccaagtgattcatt																								novel		C3N-00175_TP	C3N-00175_NB	T	T																c.5795delA	p.Asp1932AlafsTer44	p.D1932Afs*44	ENST00000495027	38/74	194	152	42	235	235	0	sindel-varindel	DNAH12,frameshift_variant,p.Asp1932AlafsTer44,ENST00000495027,NM_001291661.1;DNAH12,frameshift_variant,p.Asp1913AlafsTer44,ENST00000351747,;	-	ENST00000495027	Transcript	frameshift_variant	5976/12146	5795/11883	1932/3960	D/X	gAc/gc		1		-1	DNAH12	HGNC	HGNC:2943	protein_coding			ENSP00000418137		E9PG32	UPI0004620994	NM_001291661.1			38/74		Gene3D:3.40.50.300,Pfam_domain:PF12775,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF255,SMART_domains:SM00382,Superfamily_domains:SSF52540																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	39	57415484	57415484	T	-	1	0	1	0	1	0	0	0	0	4414	1667	58	0		0	DNAH12	3	57415484	Frame_Shift_Del	DEL	T	C3N-00175_TP	317454	57415484	140880075	316	10466	239	2									
DNAH12	0	.	GRCh38	chr3	57415487	57415487	+	Missense_Mutation	SNP	T	T	C																															aaaaaggaaagtactggtccTtttccaagtgattcattagc																										C3N-00175_TP	C3N-00175_NB	T	T																c.5792A>G	p.Lys1931Arg	p.K1931R	ENST00000495027	38/74	216	171	45	237	237	0	strelka-varscan-mutect	DNAH12,missense_variant,p.Lys1931Arg,ENST00000495027,NM_001291661.1;DNAH12,missense_variant,p.Lys1912Arg,ENST00000351747,;	C	ENST00000495027	Transcript	missense_variant	5973/12146	5792/11883	1931/3960	K/R	aAg/aGg	COSM5529901	1		-1	DNAH12	HGNC	HGNC:2943	protein_coding			ENSP00000418137		E9PG32	UPI0004620994	NM_001291661.1	tolerated(0.1)		38/74		Gene3D:3.40.50.300,Pfam_domain:PF12775,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF255,SMART_domains:SM00382,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	5		1	1										PASS		.	.												C	3	2	39	57415487	57415487	T	C	1	0	0	0	0	1	0	0	0	4414	1609	56	5		5	DNAH12	3	57415487	Missense_Mutation	SNP	T	C3N-00175_TP	3	57415487	140880072	317	10467	239	2									
FLNB	0	.	GRCh38	chr3	58097893	58097893	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggcccagggagatgccAgtaaagtcactgcaaaaggt	15	5	12	9	0	1	1	1	0	0	1	1	2	1	1	2	3	2	2	2	3	5	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1063A>C	p.Ser355Arg	p.S355R	ENST00000490882	7/47	342	271	71	354	354	0	strelka-varscan-mutect	FLNB,missense_variant,p.Ser355Arg,ENST00000295956,NM_001457.3;FLNB,missense_variant,p.Ser355Arg,ENST00000429972,NM_001164318.1;FLNB,missense_variant,p.Ser355Arg,ENST00000358537,NM_001164319.1;FLNB,missense_variant,p.Ser355Arg,ENST00000490882,NM_001164317.1;FLNB,missense_variant,p.Ser186Arg,ENST00000493452,;	C	ENST00000490882	Transcript	missense_variant	1228/8079	1063/7902	355/2633	S/R	Agt/Cgt		1		1	FLNB	HGNC	HGNC:3755	protein_coding	YES	CCDS54599.1	ENSP00000420213	O75369		UPI0001765F91	NM_001164317.1	deleterious(0.03)		7/47		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF238,SMART_domains:SM00557,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	58097893	58097893	A	C	1	0	0	0	0	1	0	0	0	5790	188	7	5		5	FLNB	3	58097893	Missense_Mutation	SNP	A	C3N-00175_TP	682406	58097893	140197666	318	10468											
KBTBD8	0	.	GRCh38	chr3	67003517	67003517	+	Frame_Shift_Del	DEL	A	A	-																															aaaagtttctgtgtgtcaccAaagaacaagagtttctccag																								novel		C3N-00175_TP	C3N-00175_NB	A	A																c.552delA	p.Glu185AsnfsTer7	p.E185Nfs*7	ENST00000417314	3/4	142	120	22	223	223	0	sindel-varindel	KBTBD8,frameshift_variant,p.Glu185AsnfsTer7,ENST00000417314,NM_032505.2;KBTBD8,frameshift_variant,p.Glu108AsnfsTer7,ENST00000484414,;KBTBD8,intron_variant,,ENST00000460576,;KBTBD8,downstream_gene_variant,,ENST00000460784,;KBTBD8,intron_variant,,ENST00000469661,;	-	ENST00000417314	Transcript	frameshift_variant	599/4680	550/1806	184/601	K/X	Aaa/aa		1		1	KBTBD8	HGNC	HGNC:30691	protein_coding	YES	CCDS2906.2	ENSP00000401878	Q8NFY9		UPI0000209974	NM_032505.2			3/4		Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF24,SMART_domains:SM00875																	HIGH	1	deletion	2	2		1										PASS		.	.												-	7	5	39	67003517	67003517	A	-	1	0	1	0	1	0	0	0	0	7915	131	5	0		0	KBTBD8	3	67003517	Frame_Shift_Del	DEL	A	C3N-00175_TP	8905624	67003517	131292042	319	10469	240	2									
KBTBD8	0	.	GRCh38	chr3	67003520	67003520	+	Nonsense_Mutation	SNP	G	G	T																															agtttctgtgtgtcaccaaaGaacaagagtttctccagttg																										C3N-00175_TP	C3N-00175_NB	G	G																c.553G>T	p.Glu185Ter	p.E185*	ENST00000417314	3/4	154	132	22	229	229	0	strelka-varscan-mutect	KBTBD8,stop_gained,p.Glu185Ter,ENST00000417314,NM_032505.2;KBTBD8,stop_gained,p.Glu108Ter,ENST00000484414,;KBTBD8,intron_variant,,ENST00000460576,;KBTBD8,downstream_gene_variant,,ENST00000460784,;KBTBD8,intron_variant,,ENST00000469661,;	T	ENST00000417314	Transcript	stop_gained	602/4680	553/1806	185/601	E/*	Gaa/Taa	COSM4150047,COSM4150048	1		1	KBTBD8	HGNC	HGNC:30691	protein_coding	YES	CCDS2906.2	ENSP00000401878	Q8NFY9		UPI0000209974	NM_032505.2			3/4		Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF24,SMART_domains:SM00875											1,1						HIGH	1	SNV	2		1,1	1										PASS		.	.												T	4	4	39	67003520	67003520	G	T	1	0	0	0	0	0	1	0	0	7915	943	33	2		2	KBTBD8	3	67003520	Nonsense_Mutation	SNP	G	C3N-00175_TP	3	67003520	131292039	320	10470	240	2									
PDZRN3	0	.	GRCh38	chr3	73404246	73404246	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtcggtttgggttccCgtgtccaccagctgagactc	5	12	13	11	2	0	2	0	2	0	1	4	3	2	2	3	2	1	3	3	2	0	2	rs199688323		C3N-00175_TP	C3N-00175_NB	C	C																c.1068G>T	p.=	p.T356T	ENST00000263666	4/10	285	221	64	297	297	0	strelka-varscan-mutect	PDZRN3,synonymous_variant,p.=,ENST00000263666,NM_015009.2;PDZRN3,synonymous_variant,p.=,ENST00000462146,NM_001303141.1;PDZRN3,synonymous_variant,p.=,ENST00000479530,NM_001303142.1;PDZRN3,synonymous_variant,p.=,ENST00000466780,NM_001303140.1;PDZRN3,synonymous_variant,p.=,ENST00000492909,NM_001303139.1;PDZRN3,upstream_gene_variant,,ENST00000494559,;PDZRN3,downstream_gene_variant,,ENST00000308537,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000498048,;PDZRN3,upstream_gene_variant,,ENST00000466348,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000477434,;PDZRN3,upstream_gene_variant,,ENST00000484487,;	A	ENST00000263666	Transcript	synonymous_variant	1183/4248	1068/3201	356/1066	T	acG/acT	rs199688323	1		-1	PDZRN3	HGNC	HGNC:17704	protein_coding	YES	CCDS33789.1	ENSP00000263666	Q9UPQ7		UPI00001C1DE6	NM_015009.2			4/10		hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545																	LOW	1	SNV	1			1										PASS		rs199688323	.												A	2	1	39	73404246	73404246	C	A	1	0	0	0	0	0	0	0	1	11797	639	23	1		1	PDZRN3	3	73404246	Silent	SNP	C	C3N-00175_TP	6400726	73404246	124891313	321	10471											
PDZRN3	0	.	GRCh38	chr3	73602371	73602371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcaataatcctgtcatGaatttgcaggcctccttcct	9	14	5	13	0	2	1	2	1	0	0	5	1	5	1	5	1	2	1	5	1	4	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.901C>A	p.His301Asn	p.H301N	ENST00000263666	3/10	104	83	21	107	106	1	strelka-varscan-mutect	PDZRN3,missense_variant,p.His301Asn,ENST00000263666,NM_015009.2;PDZRN3,missense_variant,p.His301Asn,ENST00000308537,;	T	ENST00000263666	Transcript	missense_variant	1016/4248	901/3201	301/1066	H/N	Cat/Aat		1		-1	PDZRN3	HGNC	HGNC:17704	protein_coding	YES	CCDS33789.1	ENSP00000263666	Q9UPQ7		UPI00001C1DE6	NM_015009.2	tolerated(0.07)		3/10		PROSITE_profiles:PS50106,hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	73602371	73602371	G	T	1	0	0	0	0	1	0	0	0	11797	1290	45	2		2	PDZRN3	3	73602371	Missense_Mutation	SNP	G	C3N-00175_TP	198125	73602371	124693188	322	10472											
CNTN3	0	.	GRCh38	chr3	74365658	74365658	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaataaagactgtcctccaCggctatttccacatccttta	11	12	4	14	1	0	1	0	0	0	1	4	1	4	1	5	1	0	1	5	1	5	5	rs756569621		C3N-00175_TP	C3N-00175_NB	C	C																c.991G>T	p.Val331Leu	p.V331L	ENST00000263665	8/22	246	203	43	258	258	0	strelka-varscan-mutect	CNTN3,missense_variant,p.Val331Leu,ENST00000263665,NM_020872.2;	A	ENST00000263665	Transcript	missense_variant	1019/4948	991/3087	331/1028	V/L	Gtg/Ttg	rs756569621	1		-1	CNTN3	HGNC	HGNC:2173	protein_coding	YES	CCDS33790.1	ENSP00000263665	Q9P232		UPI00001A7974	NM_020872.2	tolerated(0.18)		8/22		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF695,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs756569621	.												A	3	1	39	74365658	74365658	C	A	1	0	0	0	0	1	0	0	0	3423	536	19	1		1	CNTN3	3	74365658	Missense_Mutation	SNP	C	C3N-00175_TP	763287	74365658	123929901	323	10473											
ZNF654	0	.	GRCh38	chr3	88140536	88140536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttcaaatataagcttgaTagaccaaaagatgcctgaca	16	11	7	7	0	1	4	1	2	0	2	1	4	1	4	2	0	2	2	2	0	6	5	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1226T>C	p.Ile409Thr	p.I409T	ENST00000309495	1/2	122	108	14	166	166	0	strelka-varscan-mutect	ZNF654,missense_variant,p.Ile956Thr,ENST00000636215,;ZNF654,missense_variant,p.Ile409Thr,ENST00000309495,NM_018293.2;CGGBP1,intron_variant,,ENST00000462901,NM_001195308.1;CGGBP1,intron_variant,,ENST00000467332,;	C	ENST00000309495	Transcript	missense_variant	1425/4957	1226/1746	409/581	I/T	aTa/aCa		1		1	ZNF654	HGNC	HGNC:25612	protein_coding	YES	CCDS46874.1	ENSP00000312141	Q8IZM8		UPI0000DD0307	NM_018293.2	tolerated(0.28)		1/2		hmmpanther:PTHR15507																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	88140536	88140536	T	C	1	0	0	0	0	1	0	0	0	18640	1406	49	5		5	ZNF654	3	88140536	Missense_Mutation	SNP	T	C3N-00175_TP	13774878	88140536	110155023	324	10474											
EPHA3	0	.	GRCh38	chr3	89399436	89399436	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcccgaacagccgctggatAtgggacgaacagccgcaagt	12	4	13	12	4	0	0	0	0	0	0	0	4	0	2	3	2	5	2	3	2	4	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1550A>T	p.Tyr517Phe	p.Y517F	ENST00000336596	7/17	166	134	32	160	160	0	strelka-varscan-mutect	EPHA3,missense_variant,p.Tyr517Phe,ENST00000336596,NM_005233.5;EPHA3,missense_variant,p.Tyr517Phe,ENST00000494014,;EPHA3,missense_variant,p.Tyr517Phe,ENST00000452448,NM_182644.2;	T	ENST00000336596	Transcript	missense_variant	1775/5809	1550/2952	517/983	Y/F	tAt/tTt		1		1	EPHA3	HGNC	HGNC:3387	protein_coding	YES	CCDS2922.1	ENSP00000337451	P29320	A0A140VJJ0	UPI0000163BE4	NM_005233.5	tolerated(0.17)		7/17		PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265,Prints_domain:PR00014																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	89399436	89399436	A	T	1	0	0	0	0	1	0	0	0	5015	449	16	4		4	EPHA3	3	89399436	Missense_Mutation	SNP	A	C3N-00175_TP	1258900	89399436	108896123	325	10475											
OR5K4	0	.	GRCh38	chr3	98354419	98354419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccactgtatagactctcctGtacagatccttctattaatg	10	15	5	11	0	2	2	0	0	2	2	5	2	4	2	3	0	1	2	3	0	5	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.566G>T	p.Cys189Phe	p.C189F	ENST00000354924	1/1	124	90	34	153	152	1	strelka-varscan-mutect	OR5K4,missense_variant,p.Cys189Phe,ENST00000354924,NM_001005517.1;RP11-325B23.2,intron_variant,,ENST00000508616,;	T	ENST00000354924	Transcript	missense_variant	566/966	566/966	189/321	C/F	tGt/tTt		1		1	OR5K4	HGNC	HGNC:31291	protein_coding	YES	CCDS33802.1	ENSP00000347003	A6NMS3		UPI000044D411	NM_001005517.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF198,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs1187280023	.												T	3	4	39	98354419	98354419	G	T	1	0	0	0	0	1	0	0	0	11239	1377	48	2		2	OR5K4	3	98354419	Missense_Mutation	SNP	G	C3N-00175_TP	8954983	98354419	99941140	326	10476											
NFKBIZ	0	.	GRCh38	chr3	101852118	101852118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggttggcaggcagcagaGaggcccctttcaaggtgttc	7	8	17	9	0	1	1	1	0	0	1	2	2	1	1	2	6	1	5	2	6	1	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.323G>C	p.Arg108Thr	p.R108T	ENST00000326172	2/12	189	168	21	173	173	0	strelka-mutect	NFKBIZ,missense_variant,p.Arg108Thr,ENST00000326172,NM_031419.3;NFKBIZ,missense_variant,p.Arg8Thr,ENST00000394054,NM_001005474.2;NFKBIZ,missense_variant,p.Arg108Thr,ENST00000326151,;NFKBIZ,missense_variant,p.Arg8Thr,ENST00000483180,;NFKBIZ,missense_variant,p.Arg108Thr,ENST00000461724,;NFKBIZ,missense_variant,p.Arg8Thr,ENST00000491281,;NFKBIZ,upstream_gene_variant,,ENST00000477601,;NFKBIZ,non_coding_transcript_exon_variant,,ENST00000486444,;NFKBIZ,upstream_gene_variant,,ENST00000495089,;NFKBIZ,upstream_gene_variant,,ENST00000465476,;	C	ENST00000326172	Transcript	missense_variant	438/3923	323/2157	108/718	R/T	aGa/aCa		1		1	NFKBIZ	HGNC	HGNC:29805	protein_coding	YES	CCDS2946.1	ENSP00000325663	Q9BYH8		UPI000006FBB1	NM_031419.3	deleterious_low_confidence(0)		2/12		hmmpanther:PTHR24124,hmmpanther:PTHR24124:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	101852118	101852118	G	C	1	0	0	0	0	1	0	0	0	10419	942	33	4		4	NFKBIZ	3	101852118	Missense_Mutation	SNP	G	C3N-00175_TP	3497699	101852118	96443441	327	10477											
MYH15	0	.	GRCh38	chr3	108501742	108501742	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactggccatagcgccgcttCagggtatgcagcacggatgc	8	7	13	13	3	1	0	1	0	0	0	1	1	1	1	2	3	4	4	2	3	2	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.369G>A	p.=	p.L123L	ENST00000273353	4/42	190	158	32	199	199	0	strelka-varscan-mutect	MYH15,synonymous_variant,p.=,ENST00000273353,NM_014981.1;	T	ENST00000273353	Transcript	synonymous_variant	426/7074	369/5841	123/1946	L	ctG/ctA		1		-1	MYH15	HGNC	HGNC:31073	protein_coding	YES	CCDS43127.1	ENSP00000273353	Q9Y2K3		UPI0000253B6F	NM_014981.1			4/42		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF475,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	108501742	108501742	C	T	1	0	0	0	0	0	0	0	1	10034	813	29	3		3	MYH15	3	108501742	Silent	SNP	C	C3N-00175_TP	6649624	108501742	89793817	328	10478											
KIAA1524	0	.	GRCh38	chr3	108557391	108557391	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttttctctcaacttctctCaacatactagcaagtgtccg	9	16	4	12	1	4	0	2	0	2	0	7	0	5	0	1	0	4	1	1	0	5	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2037G>C	p.Leu679Phe	p.L679F	ENST00000295746	17/21	61	57	4	57	57	0	strelka-varscan-mutect	KIAA1524,missense_variant,p.Leu679Phe,ENST00000295746,NM_020890.2;KIAA1524,missense_variant,p.Leu520Phe,ENST00000491772,;KIAA1524,missense_variant,p.Leu680Phe,ENST00000619684,;KIAA1524,downstream_gene_variant,,ENST00000487834,;KIAA1524,3_prime_UTR_variant,,ENST00000481530,;	G	ENST00000295746	Transcript	missense_variant	2114/4075	2037/2718	679/905	L/F	ttG/ttC		1		-1	KIAA1524	HGNC	HGNC:29302	protein_coding	YES	CCDS33812.1	ENSP00000295746	Q8TCG1		UPI0000209EFF	NM_020890.2	deleterious(0.01)		17/21		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23161,hmmpanther:PTHR23161:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	108557391	108557391	C	G	1	0	0	0	0	1	0	0	0	8119	825	29	4		4	KIAA1524	3	108557391	Missense_Mutation	SNP	C	C3N-00175_TP	55649	108557391	89738168	329	10479											
TRAT1	0	.	GRCh38	chr3	108830775	108830775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactatgtggaaaagcaacGacaaggtaagacattttgac	16	8	9	8	1	0	2	0	1	0	1	0	4	0	3	1	2	2	2	1	2	6	4	rs61756221		C3N-00175_TP	C3N-00175_NB	G	G																c.113G>A	p.Arg38Gln	p.R38Q	ENST00000295756	2/6	111	98	13	117	117	0	strelka-varscan-mutect	TRAT1,missense_variant,p.Arg38Gln,ENST00000295756,NM_016388.2;TRAT1,intron_variant,,ENST00000426646,;TRAT1,non_coding_transcript_exon_variant,,ENST00000493604,;TRAT1,non_coding_transcript_exon_variant,,ENST00000478830,;TRAT1,non_coding_transcript_exon_variant,,ENST00000484927,;	A	ENST00000295756	Transcript	missense_variant	343/1919	113/561	38/186	R/Q	cGa/cAa	rs61756221	1		1	TRAT1	HGNC	HGNC:30698	protein_coding	YES	CCDS33813.1	ENSP00000295756	Q6PIZ9		UPI00001147D3	NM_016388.2	tolerated(0.38)		2/6		PD306446,Pfam_domain:PF15330,hmmpanther:PTHR15951																	MODERATE	1	SNV	1			1										PASS		rs61756221	.												A	3	1	39	108830775	108830775	G	A	1	0	0	0	0	1	0	0	0	16955	1072	37	1		1	TRAT1	3	108830775	Missense_Mutation	SNP	G	C3N-00175_TP	273384	108830775	89464784	330	10480											
TRAT1	0	.	GRCh38	chr3	108847114	108847114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccaatttatggtaacttaGatgatatgatttcaggtaag	14	14	8	5	0	1	3	1	2	0	1	1	3	1	3	1	2	1	2	1	2	6	7	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.199G>A	p.Asp67Asn	p.D67N	ENST00000295756	4/6	64	47	17	110	110	0	strelka-varscan-mutect	TRAT1,missense_variant,p.Asp67Asn,ENST00000295756,NM_016388.2;TRAT1,missense_variant,p.Asp30Asn,ENST00000426646,;TRAT1,non_coding_transcript_exon_variant,,ENST00000493604,;TRAT1,non_coding_transcript_exon_variant,,ENST00000484927,;	A	ENST00000295756	Transcript	missense_variant	429/1919	199/561	67/186	D/N	Gat/Aat		1		1	TRAT1	HGNC	HGNC:30698	protein_coding	YES	CCDS33813.1	ENSP00000295756	Q6PIZ9		UPI00001147D3	NM_016388.2	tolerated(0.61)		4/6		PD306446,Pfam_domain:PF15330,hmmpanther:PTHR15951																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	108847114	108847114	G	A	1	0	0	0	0	1	0	0	0	16955	942	33	3		3	TRAT1	3	108847114	Missense_Mutation	SNP	G	C3N-00175_TP	16339	108847114	89448445	331	10481											
MORC1	0	.	GRCh38	chr3	109007083	109007083	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgatttcgtccactggtatAaattgaggctttatgggaaa	11	14	11	5	1	0	2	0	2	0	0	2	3	1	3	1	3	0	2	1	3	5	6	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1713T>A	p.Phe571Leu	p.F571L	ENST00000232603	18/28	100	79	21	87	87	0	strelka-varscan-mutect	MORC1,missense_variant,p.Phe571Leu,ENST00000232603,NM_014429.3;MORC1,intron_variant,,ENST00000483760,;	T	ENST00000232603	Transcript	missense_variant	1796/3764	1713/2955	571/984	F/L	ttT/ttA		1		-1	MORC1	HGNC	HGNC:7198	protein_coding	YES	CCDS2955.1	ENSP00000232603	Q86VD1		UPI000013C964	NM_014429.3	tolerated(0.3)		18/28		hmmpanther:PTHR23337:SF6,hmmpanther:PTHR23337																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	109007083	109007083	A	T	1	0	0	0	0	1	0	0	0	9665	359	13	4		4	MORC1	3	109007083	Missense_Mutation	SNP	A	C3N-00175_TP	159969	109007083	89288476	332	10482											
CD96	0	.	GRCh38	chr3	111545137	111545137	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaacacagacagtaggCttcttcgtgcagatgcaatg	12	9	10	10	1	1	2	0	0	1	2	2	2	1	2	1	1	4	4	1	1	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.153C>A	p.=	p.G51G	ENST00000283285	2/15	134	115	19	109	108	1	strelka-varscan-mutect	CD96,synonymous_variant,p.=,ENST00000352690,NM_005816.4;CD96,synonymous_variant,p.=,ENST00000283285,NM_198196.2;CD96,synonymous_variant,p.=,ENST00000438817,NM_001318889.1;CD96,downstream_gene_variant,,ENST00000460744,;CD96,synonymous_variant,p.=,ENST00000494798,;CD96,synonymous_variant,p.=,ENST00000488054,;	A	ENST00000283285	Transcript	synonymous_variant	284/4324	153/1758	51/585	G	ggC/ggA		1		1	CD96	HGNC	HGNC:16892	protein_coding	YES	CCDS2959.1	ENSP00000283285	P40200		UPI000013DD36	NM_198196.2			2/15		Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR15317,hmmpanther:PTHR15317:SF1,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	111545137	111545137	C	A	1	0	0	0	0	0	0	0	1	2752	784	28	2		2	CD96	3	111545137	Silent	SNP	C	C3N-00175_TP	2538054	111545137	86750422	333	10483											
AC026348.1	0	.	GRCh38	chr3	113306310	113306311	+	Frame_Shift_Ins	INS	-	-	AA																															tcgaaggtgaagggccagctINScaaaaagagccacatcacaa																								novel		C3N-00175_TP	C3N-00175_NB	-	-																c.4648_4649insTT	p.Glu1550ValfsTer18	p.E1550Vfs*18	ENST00000393845	29/34	364	285	79	444	443	1	sindel-varindel	AC026348.1,frameshift_variant,p.Glu1550ValfsTer18,ENST00000393845,NM_001164496.1;CFAP44,frameshift_variant,p.Glu687ValfsTer18,ENST00000465636,;CFAP44,frameshift_variant,p.Glu171ValfsTer18,ENST00000461734,;CFAP44,upstream_gene_variant,,ENST00000489244,;CFAP44,upstream_gene_variant,,ENST00000465510,;	AA	ENST00000393845	Transcript	frameshift_variant	4648-4649/5565	4648-4649/5565	1550/1854	E/VX	gag/gTTag		1		-1	AC026348.1	Clone_based_ensembl_gene		protein_coding	YES	CCDS54624.1	ENSP00000377428	Q96MT7		UPI0000367198	NM_001164496.1			29/34																			HIGH	1	insertion	5			1										PASS		.	.												AA	7	5	39	113306310	113306310	-	AA	1	0	1	1	0	0	0	0	0	128	1551	54	0		0	AC026348.1	3	113306310	Frame_Shift_Ins	INS	-	C3N-00175_TP	1761173	113306310	84989249	334	10484	241	2									
AC026348.1	0	.	GRCh38	chr3	113306311	113306311	+	Nonsense_Mutation	SNP	C	C	A																															tcgaaggtgaagggccagctCaaaaagagccacatcacaat																								rs576692190		C3N-00175_TP	C3N-00175_NB	C	C																c.4648G>T	p.Glu1550Ter	p.E1550*	ENST00000393845	29/34	408	316	92	444	443	1	strelka-mutect	AC026348.1,stop_gained,p.Glu1550Ter,ENST00000393845,NM_001164496.1;CFAP44,stop_gained,p.Glu687Ter,ENST00000465636,;CFAP44,stop_gained,p.Glu171Ter,ENST00000461734,;CFAP44,upstream_gene_variant,,ENST00000489244,;CFAP44,upstream_gene_variant,,ENST00000465510,;	A	ENST00000393845	Transcript	stop_gained	4648/5565	4648/5565	1550/1854	E/*	Gag/Tag	rs576692190	1		-1	AC026348.1	Clone_based_ensembl_gene		protein_coding	YES	CCDS54624.1	ENSP00000377428	Q96MT7		UPI0000367198	NM_001164496.1			29/34																			HIGH	1	SNV	5			1										PASS		rs576692190	.												A	4	1	39	113306311	113306311	C	A	1	0	0	0	0	0	1	0	0	128	835	29	2		2	AC026348.1	3	113306311	Nonsense_Mutation	SNP	C	C3N-00175_TP	1	113306311	84989248	335	10485	241	2									
AC026348.1	0	.	GRCh38	chr3	113379475	113379475	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctcccatctctgctgctAgcttgttcctcctttcttcc	2	18	4	17	0	3	0	0	0	3	0	8	0	6	0	4	0	3	4	4	0	1	6	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2129T>G	p.Leu710Arg	p.L710R	ENST00000393845	16/34	174	129	45	181	181	0	strelka-varscan-mutect	AC026348.1,missense_variant,p.Leu710Arg,ENST00000393845,NM_001164496.1;CFAP44,missense_variant,p.Leu710Arg,ENST00000295868,NM_018338.3;CFAP44,downstream_gene_variant,,ENST00000475568,;CFAP44,3_prime_UTR_variant,,ENST00000488854,;	C	ENST00000393845	Transcript	missense_variant	2129/5565	2129/5565	710/1854	L/R	cTa/cGa		1		-1	AC026348.1	Clone_based_ensembl_gene		protein_coding	YES	CCDS54624.1	ENSP00000377428	Q96MT7		UPI0000367198	NM_001164496.1	tolerated(0.14)		16/34		Low_complexity_(Seg):seg,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	39	113379475	113379475	A	C	1	0	0	0	0	1	0	0	0	128	420	15	5		5	AC026348.1	3	113379475	Missense_Mutation	SNP	A	C3N-00175_TP	73164	113379475	84916084	336	10486											
C3orf30	0	.	GRCh38	chr3	119146792	119146792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccgcagaatgtctggcgaGgctgagcgaagaacttctga	11	7	14	9	3	2	4	0	2	2	2	2	7	2	4	1	2	2	2	1	2	3	1	rs756123379		C3N-00175_TP	C3N-00175_NB	G	G																c.603G>T	p.Glu201Asp	p.E201D	ENST00000295622	1/3	290	241	49	280	279	1	strelka-varscan-mutect	C3orf30,missense_variant,p.Glu201Asp,ENST00000295622,NM_152539.2;C3orf30,missense_variant,p.Glu165Asp,ENST00000460150,;IGSF11,upstream_gene_variant,,ENST00000425327,NM_152538.2;IGSF11,upstream_gene_variant,,ENST00000441144,;C3orf30,upstream_gene_variant,,ENST00000473121,;C3orf30,upstream_gene_variant,,ENST00000492792,;RP11-484M3.5,upstream_gene_variant,,ENST00000490594,;IGSF11,upstream_gene_variant,,ENST00000494802,;C3orf30,missense_variant,p.Glu201Asp,ENST00000494105,;	T	ENST00000295622	Transcript	missense_variant	643/1814	603/1611	201/536	E/D	gaG/gaT	rs756123379	1		1	C3orf30	HGNC	HGNC:26553	protein_coding	YES	CCDS2984.1	ENSP00000295622	Q96M34		UPI000013E280	NM_152539.2	tolerated(0.07)		1/3		hmmpanther:PTHR21847,hmmpanther:PTHR21847:SF4																	MODERATE	1	SNV	1			1										PASS		rs756123379	.												T	3	4	39	119146792	119146792	G	T	1	0	0	0	0	1	0	0	0	2063	991	35	2		2	C3orf30	3	119146792	Missense_Mutation	SNP	G	C3N-00175_TP	5767317	119146792	79148767	337	10487											
STXBP5L	0	.	GRCh38	chr3	121413168	121413168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccattcagcctacctagtCttcgcccaatgttggatgtt	7	15	7	12	1	2	0	1	0	1	0	4	1	3	1	4	1	2	2	4	1	3	7	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3031C>T	p.Leu1011Phe	p.L1011F	ENST00000273666	25/28	69	57	12	67	67	0	strelka-varscan-mutect	STXBP5L,missense_variant,p.Leu1011Phe,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Leu987Phe,ENST00000471454,NM_001308330.1;STXBP5L,missense_variant,p.Leu954Phe,ENST00000471262,;	T	ENST00000273666	Transcript	missense_variant	3302/9496	3031/3561	1011/1186	L/F	Ctt/Ttt		1		1	STXBP5L	HGNC	HGNC:30757	protein_coding	YES	CCDS43137.1	ENSP00000273666	Q9Y2K9		UPI00001C1DEA	NM_014980.2	deleterious(0)		25/28		hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Pfam_domain:PF08596,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	121413168	121413168	C	T	1	0	0	0	0	1	0	0	0	15741	913	32	3		3	STXBP5L	3	121413168	Missense_Mutation	SNP	C	C3N-00175_TP	2266376	121413168	76882391	338	10488											
FBXO40	0	.	GRCh38	chr3	121622709	121622709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggactgttcatggattttgCcacacaaacatacaactttg	12	13	7	9	0	1	0	1	0	0	0	1	2	1	2	1	2	4	1	1	2	3	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1280C>T	p.Ala427Val	p.A427V	ENST00000338040	3/4	200	165	35	232	231	1	strelka-varscan-mutect	FBXO40,missense_variant,p.Ala427Val,ENST00000338040,NM_016298.3;	T	ENST00000338040	Transcript	missense_variant	1694/5929	1280/2130	427/709	A/V	gCc/gTc		1		1	FBXO40	HGNC	HGNC:29816	protein_coding	YES	CCDS33835.1	ENSP00000337510	Q9UH90		UPI000020A046	NM_016298.3	deleterious(0)		3/4		hmmpanther:PTHR15933,hmmpanther:PTHR15933:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	121622709	121622709	C	T	1	0	0	0	0	1	0	0	0	5612	739	26	3		3	FBXO40	3	121622709	Missense_Mutation	SNP	C	C3N-00175_TP	209541	121622709	76672850	339	10489											
FBXO40	0	.	GRCh38	chr3	121626698	121626698	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatctttctcaacagatcTggcagttcagcagcctcttc	8	14	6	13	0	6	1	2	0	5	1	8	1	6	1	1	1	3	3	1	1	2	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1918T>A	p.Trp640Arg	p.W640R	ENST00000338040	4/4	145	102	43	155	155	0	strelka-varscan-mutect	FBXO40,missense_variant,p.Trp640Arg,ENST00000338040,NM_016298.3;HCLS1,downstream_gene_variant,,ENST00000314583,NM_005335.5;HCLS1,downstream_gene_variant,,ENST00000473883,;	A	ENST00000338040	Transcript	missense_variant	2332/5929	1918/2130	640/709	W/R	Tgg/Agg		1		1	FBXO40	HGNC	HGNC:29816	protein_coding	YES	CCDS33835.1	ENSP00000337510	Q9UH90		UPI000020A046	NM_016298.3	deleterious(0)		4/4		Gene3D:1.20.1280.50,Pfam_domain:PF15966,hmmpanther:PTHR15933,hmmpanther:PTHR15933:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	121626698	121626698	T	A	1	0	0	0	0	1	0	0	0	5612	1594	55	4		4	FBXO40	3	121626698	Missense_Mutation	SNP	T	C3N-00175_TP	3989	121626698	76668861	340	10490											
CASR	0	.	GRCh38	chr3	122284997	122284997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgacacgagccattactcCcgctgcagtgcggggaaacg	9	5	12	15	5	0	0	0	0	0	0	1	3	1	1	3	2	5	2	3	2	2	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3073C>T	p.Pro1025Ser	p.P1025S	ENST00000498619	7/7	490	447	43	332	332	0	strelka-varscan-mutect	CASR,missense_variant,p.Pro1025Ser,ENST00000498619,NM_001178065.1;CASR,missense_variant,p.Pro1015Ser,ENST00000490131,NM_000388.3;	T	ENST00000498619	Transcript	missense_variant	3511/5011	3073/3267	1025/1088	P/S	Ccg/Tcg		1		1	CASR	HGNC	HGNC:1514	protein_coding	YES	CCDS54632.1	ENSP00000420194		E7ENE0	UPI000020A065	NM_001178065.1	deleterious_low_confidence(0.01)		7/7																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	122284997	122284997	C	T	1	0	0	0	0	1	0	0	0	2381	623	22	3		3	CASR	3	122284997	Missense_Mutation	SNP	C	C3N-00175_TP	658299	122284997	76010562	341	10491											
MYLK	0	.	GRCh38	chr3	123725951	123725951	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggggaactcaccattcagCagccaagtgatccggggcac	11	5	13	12	1	2	1	2	1	0	0	3	2	3	2	3	4	3	2	3	4	2	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1644G>T	p.=	p.L548L	ENST00000360304	11/33	100	75	25	92	91	1	strelka-varscan-mutect	MYLK,synonymous_variant,p.=,ENST00000360772,;MYLK,synonymous_variant,p.=,ENST00000360304,NM_001321309.1,NM_053025.3;MYLK,synonymous_variant,p.=,ENST00000359169,NM_053027.3;MYLK,synonymous_variant,p.=,ENST00000354792,;MYLK,synonymous_variant,p.=,ENST00000346322,NM_053028.3,NM_053026.3;MYLK,synonymous_variant,p.=,ENST00000475616,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,non_coding_transcript_exon_variant,,ENST00000514623,;	A	ENST00000360304	Transcript	synonymous_variant	1830/7738	1644/5745	548/1914	L	ctG/ctT		1		-1	MYLK	HGNC	HGNC:7590	protein_coding	YES	CCDS46896.1	ENSP00000353452	Q15746		UPI000020A0AE	NM_001321309.1,NM_053025.3			11/33		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF700,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	39	123725951	123725951	C	A	1	0	0	0	0	0	0	0	1	10056	697	25	2		2	MYLK	3	123725951	Silent	SNP	C	C3N-00175_TP	1440954	123725951	74569608	342	10492											
OSBPL11	0	.	GRCh38	chr3	125552434	125552434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaaacactggatgctacCtcgctttttggcatcttcca	10	13	6	12	1	1	0	0	0	1	0	3	1	2	1	2	2	3	3	2	2	4	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1401G>T	p.Glu467Asp	p.E467D	ENST00000296220	9/13	261	212	49	305	305	0	strelka-varscan-mutect	OSBPL11,missense_variant,p.Glu467Asp,ENST00000296220,NM_022776.4;	A	ENST00000296220	Transcript	missense_variant	1691/4191	1401/2244	467/747	E/D	gaG/gaT		1		-1	OSBPL11	HGNC	HGNC:16397	protein_coding	YES	CCDS3033.1	ENSP00000296220	Q9BXB4	A0A140VJQ6	UPI0000130E9C	NM_022776.4	tolerated(0.28)		9/13		Pfam_domain:PF01237,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF46,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	125552434	125552434	C	A	1	0	0	0	0	1	0	0	0	11342	680	24	2		2	OSBPL11	3	125552434	Missense_Mutation	SNP	C	C3N-00175_TP	1826483	125552434	72743125	343	10493											
MCM2	0	.	GRCh38	chr3	127604716	127604716	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagagggaggcagcagagcgGgccatgcggcagcgtgaccg	9	2	19	11	4	0	3	0	1	0	2	0	4	0	4	2	4	4	3	2	4	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.345G>T	p.=	p.R115R	ENST00000265056	3/16	186	142	44	229	229	0	strelka-varscan-mutect	MCM2,synonymous_variant,p.=,ENST00000265056,NM_004526.3;MCM2,synonymous_variant,p.=,ENST00000480910,;MCM2,upstream_gene_variant,,ENST00000491422,;MCM2,downstream_gene_variant,,ENST00000472731,;MCM2,non_coding_transcript_exon_variant,,ENST00000468659,;MCM2,synonymous_variant,p.=,ENST00000474964,;MCM2,synonymous_variant,p.=,ENST00000477668,;	T	ENST00000265056	Transcript	synonymous_variant	589/3622	345/2715	115/904	R	cgG/cgT		1		1	MCM2	HGNC	HGNC:6944	protein_coding	YES	CCDS3043.1	ENSP00000265056	P49736		UPI00001A3E4E	NM_004526.3			3/16		Low_complexity_(Seg):seg,Pfam_domain:PF12619																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	127604716	127604716	G	T	1	0	0	0	0	0	0	0	1	9318	1219	43	2		2	MCM2	3	127604716	Silent	SNP	G	C3N-00175_TP	2052282	127604716	70690843	344	10494											
RP11-723O4.6	0	.	GRCh38	chr3	128932958	128932958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtccctcaccgtcacGtcccagagggtggtgctgtt	6	9	13	13	2	2	1	2	0	0	1	4	1	4	1	3	3	2	3	3	3	0	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1131C>A	p.Asp377Glu	p.D377E	ENST00000508239	5/8	257	199	58	242	242	0	strelka-varscan-mutect	RP11-723O4.6,missense_variant,p.Asp377Glu,ENST00000508239,;RP11-723O4.6,missense_variant,p.Asp25Glu,ENST00000637488,;KIAA1257,intron_variant,,ENST00000511438,;	T	ENST00000508239	Transcript	missense_variant	1278/2291	1131/1719	377/572	D/E	gaC/gaA		1		-1	RP11-723O4.6	Clone_based_vega_gene		protein_coding	YES		ENSP00000424951	Q6ZUG5		UPI00001C0B67		tolerated(0.88)		5/8		hmmpanther:PTHR33667																	MODERATE	1	SNV	2			1										PASS		rs1393659688	.												T	3	4	39	128932958	128932958	G	T	1	0	0	0	0	1	0	0	0	13759	1136	40	1		1	RP11-723O4.6	3	128932958	Missense_Mutation	SNP	G	C3N-00175_TP	1328242	128932958	69362601	345	10495											
COL6A5	0	.	GRCh38	chr3	130406150	130406150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaggtcatggagacgatgGgattgatggacttgatgggg	9	9	20	3	1	1	3	1	2	0	1	1	8	1	6	0	7	0	0	0	7	0	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.4400G>T	p.Gly1467Val	p.G1467V	ENST00000265379	16/43	206	189	17	194	193	1	strelka-varscan-mutect	COL6A5,missense_variant,p.Gly1467Val,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,missense_variant,p.Gly1467Val,ENST00000312481,;	T	ENST00000265379	Transcript	missense_variant	4894/9214	4400/7836	1467/2611	G/V	gGg/gTg		1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1	deleterious(0)		16/43		Low_complexity_(Seg):seg,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF133,Pfam_domain:PF01391																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	130406150	130406150	G	T	1	0	0	0	0	1	0	0	0	3491	1232	43	2		2	COL6A5	3	130406150	Missense_Mutation	SNP	G	C3N-00175_TP	1473192	130406150	67889409	346	10496											
COL6A6	0	.	GRCh38	chr3	130574084	130574084	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgatgtcagcctcaacAgagtgcgaataggagcggcc	11	8	12	10	2	2	2	2	1	0	1	2	4	2	3	2	2	4	0	2	2	3	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.3106A>G	p.Arg1036Gly	p.R1036G	ENST00000358511	7/36	261	205	56	283	283	0	strelka-varscan-mutect	COL6A6,missense_variant,p.Arg1036Gly,ENST00000358511,NM_001102608.1;	G	ENST00000358511	Transcript	missense_variant	3137/9581	3106/6792	1036/2263	R/G	Aga/Gga		1		1	COL6A6	HGNC	HGNC:27023	protein_coding	YES	CCDS46911.1	ENSP00000351310	A6NMZ7		UPI00015B6548	NM_001102608.1	deleterious(0.02)		7/36		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF61,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	39	130574084	130574084	A	G	1	0	0	0	0	1	0	0	0	3492	180	7	5		5	COL6A6	3	130574084	Missense_Mutation	SNP	A	C3N-00175_TP	167934	130574084	67721475	347	10497											
CPNE4	0	.	GRCh38	chr3	131723506	131723506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttcagcccattgtggttGctgctgatgtcatggacttc	5	15	10	11	0	2	1	2	1	0	0	4	2	3	2	2	2	3	3	2	2	0	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.354C>A	p.Ser118Arg	p.S118R	ENST00000617767	3/16	185	143	42	188	188	0	strelka-varscan-mutect	CPNE4,missense_variant,p.Ser100Arg,ENST00000512055,;CPNE4,missense_variant,p.Ser100Arg,ENST00000429747,NM_130808.2;CPNE4,missense_variant,p.Ser118Arg,ENST00000617767,NM_001289112.1;CPNE4,missense_variant,p.Ser100Arg,ENST00000511604,;CPNE4,missense_variant,p.Ser118Arg,ENST00000512332,NM_153429.1;CPNE4,missense_variant,p.Ser118Arg,ENST00000502818,;CPNE4,missense_variant,p.Ser100Arg,ENST00000505881,;CPNE4,downstream_gene_variant,,ENST00000505957,;CPNE4,downstream_gene_variant,,ENST00000514999,;CPNE4,non_coding_transcript_exon_variant,,ENST00000515418,;	T	ENST00000617767	Transcript	missense_variant	549/3556	354/1728	118/575	S/R	agC/agA		1		-1	CPNE4	HGNC	HGNC:2317	protein_coding	YES	CCDS75010.1	ENSP00000478878	Q96A23		UPI000002A6F1	NM_001289112.1	deleterious(0.05)		3/16		hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF4,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	131723506	131723506	G	T	1	0	0	0	0	1	0	0	0	3609	1310	46	2		2	CPNE4	3	131723506	Missense_Mutation	SNP	G	C3N-00175_TP	1149422	131723506	66572053	348	10498											
SPSB4	0	.	GRCh38	chr3	141066285	141066285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgtggaaccccgaggacCgctcgctcaacgtcttcgtc	7	7	11	16	7	2	0	1	0	1	0	5	3	2	2	3	2	2	2	3	2	2	1			C3N-00175_TP	C3N-00175_NB	C	C																c.181C>A	p.Arg61Ser	p.R61S	ENST00000310546	2/3	144	100	44	142	141	1	strelka-varscan-mutect	SPSB4,missense_variant,p.Arg61Ser,ENST00000310546,NM_080862.2;SPSB4,upstream_gene_variant,,ENST00000508126,;	A	ENST00000310546	Transcript	missense_variant	925/2908	181/822	61/273	R/S	Cgc/Agc	COSM5355711	1		1	SPSB4	HGNC	HGNC:30630	protein_coding	YES	CCDS3115.1	ENSP00000311609	Q96A44		UPI00000734A4	NM_080862.2	tolerated(0.08)		2/3		PROSITE_profiles:PS50188,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF3,Superfamily_domains:SSF49899											1						MODERATE	1	SNV	1		1	1										PASS		rs1352282512	.												A	3	1	39	141066285	141066285	C	A	1	0	0	0	0	1	0	0	0	15471	652	23	1		1	SPSB4	3	141066285	Missense_Mutation	SNP	C	C3N-00175_TP	9342779	141066285	57229274	349	10499											
SPSB4	0	.	GRCh38	chr3	141066572	141066572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccacgacggcaagaaccaGcccggcgtggcctacccggc	9	3	12	17	5	0	1	0	0	0	1	0	2	0	1	5	4	4	1	5	4	4	2			C3N-00175_TP	C3N-00175_NB	G	G																c.468G>T	p.Gln156His	p.Q156H	ENST00000310546	2/3	32	23	9	33	33	0	strelka-varscan-mutect	SPSB4,missense_variant,p.Gln156His,ENST00000310546,NM_080862.2;SPSB4,upstream_gene_variant,,ENST00000508126,;	T	ENST00000310546	Transcript	missense_variant	1212/2908	468/822	156/273	Q/H	caG/caT	COSM5683749	1		1	SPSB4	HGNC	HGNC:30630	protein_coding	YES	CCDS3115.1	ENSP00000311609	Q96A44		UPI00000734A4	NM_080862.2	tolerated(0.47)		2/3		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF3,SMART_domains:SM00449,Superfamily_domains:SSF49899											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	39	141066572	141066572	G	T	1	0	0	0	0	1	0	0	0	15471	962	34	2		2	SPSB4	3	141066572	Missense_Mutation	SNP	G	C3N-00175_TP	287	141066572	57228987	350	10500											
U2SURP	0	.	GRCh38	chr3	143022897	143022897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagttaggttggggtaaaGctgtacctattcctccacat	10	13	10	8	0	0	1	0	1	0	0	2	1	2	1	3	3	2	5	3	3	6	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1063G>T	p.Ala355Ser	p.A355S	ENST00000473835	12/28	110	104	6	125	125	0	strelka-varscan-mutect	U2SURP,missense_variant,p.Ala355Ser,ENST00000473835,NM_001320219.1,NM_001080415.1;U2SURP,missense_variant,p.Ala354Ser,ENST00000493598,;U2SURP,missense_variant,p.Ala357Ser,ENST00000463563,;U2SURP,missense_variant,p.Ala355Ser,ENST00000488497,;U2SURP,non_coding_transcript_exon_variant,,ENST00000461591,;U2SURP,non_coding_transcript_exon_variant,,ENST00000488587,;U2SURP,upstream_gene_variant,,ENST00000480029,;U2SURP,upstream_gene_variant,,ENST00000472373,;U2SURP,downstream_gene_variant,,ENST00000470400,;	T	ENST00000473835	Transcript	missense_variant	1153/7276	1063/3090	355/1029	A/S	Gct/Tct		1		1	U2SURP	HGNC	HGNC:30855	protein_coding	YES	CCDS46928.1	ENSP00000418563	O15042		UPI0000160746	NM_001320219.1,NM_001080415.1	tolerated(0.48)		12/28		PROSITE_profiles:PS50102,hmmpanther:PTHR23140:SF1,hmmpanther:PTHR23140,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	143022897	143022897	G	T	1	0	0	0	0	1	0	0	0	17341	971	34	2		2	U2SURP	3	143022897	Missense_Mutation	SNP	G	C3N-00175_TP	1956325	143022897	55272662	351	10501											
PLOD2	0	.	GRCh38	chr3	146071375	146071375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatcaacttgcttcatgtGgatatcatcagttgggacat	11	13	9	8	0	4	1	4	0	0	1	4	3	4	3	0	2	2	2	0	2	2	4			C3N-00175_TP	C3N-00175_NB	G	G																c.1897C>T	p.His633Tyr	p.H633Y	ENST00000282903	18/20	265	203	62	319	319	0	strelka-varscan-mutect	PLOD2,missense_variant,p.His633Tyr,ENST00000282903,NM_182943.2;PLOD2,missense_variant,p.His612Tyr,ENST00000360060,NM_000935.2;PLOD2,missense_variant,p.His293Tyr,ENST00000461497,;PLOD2,missense_variant,p.His578Tyr,ENST00000494950,;RP11-274H2.2,intron_variant,,ENST00000480247,;RP11-274H2.3,upstream_gene_variant,,ENST00000490375,;RP11-274H2.2,downstream_gene_variant,,ENST00000494745,;PLOD2,downstream_gene_variant,,ENST00000478436,;PLOD2,upstream_gene_variant,,ENST00000495700,;PLOD2,downstream_gene_variant,,ENST00000475505,;	A	ENST00000282903	Transcript	missense_variant	2075/3732	1897/2277	633/758	H/Y	Cac/Tac	COSM5398329	1		-1	PLOD2	HGNC	HGNC:9082	protein_coding	YES	CCDS3132.1	ENSP00000282903	O00469		UPI0000049C44	NM_182943.2	deleterious(0)		18/20		hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF6,SMART_domains:SM00702											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	39	146071375	146071375	G	A	1	0	0	0	0	1	0	0	0	12198	1348	47	3		3	PLOD2	3	146071375	Missense_Mutation	SNP	G	C3N-00175_TP	3048478	146071375	52224184	352	10502											
PLSCR4	0	.	GRCh38	chr3	146206732	146206732	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagcctcctgggtagccagTaggtggagggacagctgttc	8	8	15	10	0	0	0	0	0	0	0	2	2	1	2	3	4	3	4	3	4	3	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.148A>T	p.Thr50Ser	p.T50S	ENST00000354952	4/9	185	128	57	214	214	0	strelka-varscan-mutect	PLSCR4,missense_variant,p.Thr50Ser,ENST00000354952,NM_020353.2;PLSCR4,missense_variant,p.Thr50Ser,ENST00000383083,NM_001128306.1;PLSCR4,missense_variant,p.Thr35Ser,ENST00000433593,NM_001177304.1;PLSCR4,missense_variant,p.Thr50Ser,ENST00000446574,NM_001128305.1;PLSCR4,missense_variant,p.Thr50Ser,ENST00000493382,NM_001128304.1;PLSCR4,missense_variant,p.Thr50Ser,ENST00000460350,;PLSCR4,missense_variant,p.Thr50Ser,ENST00000476202,;PLSCR4,missense_variant,p.Thr50Ser,ENST00000481701,;PLSCR4,missense_variant,p.Thr50Ser,ENST00000460885,;PLSCR4,missense_variant,p.Thr50Ser,ENST00000498625,;PLSCR4,non_coding_transcript_exon_variant,,ENST00000475019,;	A	ENST00000354952	Transcript	missense_variant	389/3303	148/990	50/329	T/S	Act/Tct		1		-1	PLSCR4	HGNC	HGNC:16497	protein_coding	YES	CCDS3133.1	ENSP00000347038	Q9NRQ2		UPI000004182E	NM_020353.2	tolerated(0.1)		4/9		Low_complexity_(Seg):seg,hmmpanther:PTHR23248,hmmpanther:PTHR23248:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	146206732	146206732	T	A	1	0	0	0	0	1	0	0	0	12219	1638	57	4		4	PLSCR4	3	146206732	Missense_Mutation	SNP	T	C3N-00175_TP	135357	146206732	52088827	353	10503											
ZIC1	0	.	GRCh38	chr3	147412617	147412617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgcacacgagcgacaagcCctatctttgcaagatgtgcg	10	8	11	12	4	1	1	0	0	1	1	1	3	1	1	1	0	5	2	1	0	3	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1082C>T	p.Pro361Leu	p.P361L	ENST00000282928	2/3	206	173	33	234	234	0	strelka-varscan-mutect	ZIC1,missense_variant,p.Pro361Leu,ENST00000282928,NM_003412.3;ZIC1,missense_variant,p.Pro50Leu,ENST00000488404,;ZIC1,intron_variant,,ENST00000472523,;	T	ENST00000282928	Transcript	missense_variant	1811/5241	1082/1344	361/447	P/L	cCc/cTc		1		1	ZIC1	HGNC	HGNC:12872	protein_coding	YES	CCDS3136.1	ENSP00000282928	Q15915		UPI000013DD09	NM_003412.3	deleterious(0.01)		2/3		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	147412617	147412617	C	T	1	0	0	0	0	1	0	0	0	18257	623	22	3		3	ZIC1	3	147412617	Missense_Mutation	SNP	C	C3N-00175_TP	1205885	147412617	50882942	354	10504											
CPB1	0	.	GRCh38	chr3	148840698	148840699	+	Frame_Shift_Ins	INS	-	-	A																															gttgcagggtactgataagcINSaacctgagaaatgtggtgga																								novel		C3N-00175_TP	C3N-00175_NB	-	-																c.287dupA	p.Asn96LysfsTer11	p.N96Kfs*11	ENST00000491148	5/12	162	111	51	200	200	0	sindel-varindel-pindel	CPB1,frameshift_variant,p.Asn96LysfsTer11,ENST00000491148,;CPB1,frameshift_variant,p.Asn96LysfsTer11,ENST00000282957,NM_001871.2;CPB1,frameshift_variant,p.Asn96LysfsTer11,ENST00000468341,;CPB1,frameshift_variant,p.Asn96LysfsTer?,ENST00000462345,;CPB1,non_coding_transcript_exon_variant,,ENST00000484877,;CPB1,non_coding_transcript_exon_variant,,ENST00000465718,;	A	ENST00000491148	Transcript	frameshift_variant	619-620/1773	285-286/1254	95-96/417	-/X	-/A		1		1	CPB1	HGNC	HGNC:2299	protein_coding	YES	CCDS33874.1	ENSP00000417222	P15086		UPI00001271CD				5/12		hmmpanther:PTHR11705:SF20,hmmpanther:PTHR11705,Gene3D:3.30.70.340,Pfam_domain:PF02244,Superfamily_domains:SSF54897																	HIGH	1	insertion	5	2		1										PASS		.	.												A	7	5	39	148840698	148840698	-	A	1	0	1	1	0	0	0	0	0	3590	709	25	0		0	CPB1	3	148840698	Frame_Shift_Ins	INS	-	C3N-00175_TP	1428081	148840698	49454861	355	10505											
HPS3	0	.	GRCh38	chr3	149153553	149153553	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacagcttttcataggcttGaaagccatctgtcactttaa	12	14	6	9	0	3	1	2	1	1	0	3	1	3	1	1	1	3	2	1	1	4	7	rs747808313		C3N-00175_TP	C3N-00175_NB	G	G																c.1305G>C	p.Leu435Phe	p.L435F	ENST00000296051	7/17	270	239	31	213	212	1	strelka-varscan-mutect	HPS3,missense_variant,p.Leu435Phe,ENST00000296051,NM_032383.3;HPS3,missense_variant,p.Leu270Phe,ENST00000460120,NM_001308258.1;HPS3,non_coding_transcript_exon_variant,,ENST00000462030,;HPS3,non_coding_transcript_exon_variant,,ENST00000486530,;	C	ENST00000296051	Transcript	missense_variant	1445/4665	1305/3015	435/1004	L/F	ttG/ttC	rs747808313	1		1	HPS3	HGNC	HGNC:15597	protein_coding	YES	CCDS3140.1	ENSP00000296051	Q969F9		UPI000000D989	NM_032383.3	deleterious(0.04)		7/17		hmmpanther:PTHR28633,hmmpanther:PTHR28633:SF1,Pfam_domain:PF14762,PIRSF_domain:PIRSF037473																	MODERATE	1	SNV	1			1										PASS		rs747808313	.												C	3	2	39	149153553	149153553	G	C	1	0	0	0	0	1	0	0	0	7235	1281	45	4		4	HPS3	3	149153553	Missense_Mutation	SNP	G	C3N-00175_TP	312855	149153553	49142006	356	10506											
ERICH6	0	.	GRCh38	chr3	150680869	150680869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attcagctttagggggtttgGtttttatttgctcctcatag	6	19	10	6	0	2	0	2	0	0	0	3	0	3	0	1	3	2	4	1	3	3	9	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.944C>G	p.Thr315Ser	p.T315S	ENST00000295910	8/14	71	57	14	90	90	0	strelka-varscan-mutect	ERICH6,missense_variant,p.Thr315Ser,ENST00000295910,NM_152394.4;ERICH6,missense_variant,p.Thr169Ser,ENST00000491361,NM_001308234.1;ERICH6,non_coding_transcript_exon_variant,,ENST00000491716,;	C	ENST00000295910	Transcript	missense_variant	997/2052	944/1992	315/663	T/S	aCc/aGc		1		-1	ERICH6	HGNC	HGNC:28602	protein_coding	YES	CCDS3151.2	ENSP00000295910	Q7L0X2		UPI000023281A	NM_152394.4	tolerated(0.43)		8/14		hmmpanther:PTHR23093																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	150680869	150680869	G	C	1	0	0	0	0	1	0	0	0	5086	1261	44	4		4	ERICH6	3	150680869	Missense_Mutation	SNP	G	C3N-00175_TP	1527316	150680869	47614690	357	10507											
CLRN1	0	.	GRCh38	chr3	150972595	150972595	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagctcccgttttgcagagGacagtggctttgatccacaa	10	10	11	10	1	0	3	0	1	0	2	2	4	2	4	2	2	2	4	2	2	1	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.114C>A	p.=	p.V38V	ENST00000328863	1/4	439	323	116	446	445	1	strelka-varscan-mutect	CLRN1,synonymous_variant,p.=,ENST00000327047,NM_174878.2;CLRN1,synonymous_variant,p.=,ENST00000328863,NM_001195794.1;CLRN1,5_prime_UTR_variant,,ENST00000468836,;CLRN1-AS1,intron_variant,,ENST00000476886,;RP11-166N6.2,intron_variant,,ENST00000469268,;CLRN1-AS1,upstream_gene_variant,,ENST00000465576,;CLRN1,non_coding_transcript_exon_variant,,ENST00000472224,;	T	ENST00000328863	Transcript	synonymous_variant	114/738	114/738	38/245	V	gtC/gtA		1		-1	CLRN1	HGNC	HGNC:12605	protein_coding	YES	CCDS56285.1	ENSP00000329158	P58418		UPI0001E43709	NM_001195794.1			1/4		hmmpanther:PTHR31548:SF4,hmmpanther:PTHR31548																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	150972595	150972595	G	T	1	0	0	0	0	0	0	0	1	3329	1161	41	2		2	CLRN1	3	150972595	Silent	SNP	G	C3N-00175_TP	291726	150972595	47322964	358	10508											
IGSF10	0	.	GRCh38	chr3	151438513	151438513	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattttgtttcttgccacAcacaagtagacaccactgtc	10	12	5	14	0	1	1	0	0	1	1	2	1	1	1	3	0	1	2	3	0	2	5			C3N-00175_TP	C3N-00175_NB	A	A																c.6048T>A	p.Cys2016Ter	p.C2016*	ENST00000282466	6/6	241	182	59	249	249	0	strelka-varscan-mutect	IGSF10,stop_gained,p.Cys2016Ter,ENST00000282466,NM_178822.4;IGSF10,intron_variant,,ENST00000489791,;MED12L,downstream_gene_variant,,ENST00000474524,NM_053002.5;MED12L,downstream_gene_variant,,ENST00000273432,;IGSF10,non_coding_transcript_exon_variant,,ENST00000495443,;IGSF10,non_coding_transcript_exon_variant,,ENST00000493841,;IGSF10,upstream_gene_variant,,ENST00000497472,;	T	ENST00000282466	Transcript	stop_gained	6048/11067	6048/7872	2016/2623	C/*	tgT/tgA	COSM3003586	1		-1	IGSF10	HGNC	HGNC:26384	protein_coding	YES	CCDS3160.1	ENSP00000282466	Q6WRI0		UPI00001D629A	NM_178822.4			6/6		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	39	151438513	151438513	A	T	1	0	0	0	0	0	1	0	0	7504	157	6	4		4	IGSF10	3	151438513	Nonsense_Mutation	SNP	A	C3N-00175_TP	465918	151438513	46857046	359	10509											
IGSF10	0	.	GRCh38	chr3	151449018	151449018	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatttccagactgatcTgtcatattcaaagtgaggga	11	13	9	8	0	4	3	3	2	1	1	5	4	5	4	1	1	0	1	1	1	2	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.963A>T	p.=	p.T321T	ENST00000282466	4/6	174	141	33	170	170	0	strelka-varscan-mutect	IGSF10,synonymous_variant,p.=,ENST00000282466,NM_178822.4;	A	ENST00000282466	Transcript	synonymous_variant	963/11067	963/7872	321/2623	T	acA/acT		1		-1	IGSF10	HGNC	HGNC:26384	protein_coding	YES	CCDS3160.1	ENSP00000282466	Q6WRI0		UPI00001D629A	NM_178822.4			4/6		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	151449018	151449018	T	A	1	0	0	0	0	0	0	0	1	7504	1567	55	4		4	IGSF10	3	151449018	Silent	SNP	T	C3N-00175_TP	10505	151449018	46846541	360	10510											
ARHGEF26	0	.	GRCh38	chr3	154191394	154191394	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctccccatgcagagggtGacccgccttcccctgctgat	6	10	9	16	1	1	3	0	2	1	1	3	3	2	3	6	1	2	2	6	1	0	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1746G>T	p.=	p.V582V	ENST00000356448	8/15	120	79	41	107	107	0	strelka-varscan-mutect	ARHGEF26,synonymous_variant,p.=,ENST00000356448,NM_001251962.1;ARHGEF26,synonymous_variant,p.=,ENST00000465093,NM_015595.3;ARHGEF26,synonymous_variant,p.=,ENST00000496710,NM_001251963.1;ARHGEF26,intron_variant,,ENST00000465817,;	T	ENST00000356448	Transcript	synonymous_variant	2030/5254	1746/2616	582/871	V	gtG/gtT		1		1	ARHGEF26	HGNC	HGNC:24490	protein_coding	YES	CCDS46938.1	ENSP00000348828	Q96DR7	A0A140VJU4	UPI00001410D0	NM_001251962.1			8/15		PROSITE_profiles:PS50010,hmmpanther:PTHR12845:SF4,hmmpanther:PTHR12845,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	39	154191394	154191394	G	T	1	0	0	0	0	0	0	0	1	1035	1277	45	2		2	ARHGEF26	3	154191394	Silent	SNP	G	C3N-00175_TP	2742376	154191394	44104165	361	10511											
GPR149	0	.	GRCh38	chr3	154338118	154338118	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggccaacacttttggatcGatagacttctattttcttag	10	16	7	8	1	2	1	0	0	2	1	3	3	2	2	1	2	1	0	1	2	4	8	rs774432061		C3N-00175_TP	C3N-00175_NB	G	G																c.1777C>T	p.Arg593Ter	p.R593*	ENST00000389740	4/4	120	91	29	138	138	0	strelka-varscan-mutect	GPR149,stop_gained,p.Arg593Ter,ENST00000389740,NM_001038705.1;RP11-316N24.2,upstream_gene_variant,,ENST00000623249,;	A	ENST00000389740	Transcript	stop_gained	1877/2323	1777/2196	593/731	R/*	Cga/Tga	rs774432061,COSM1040218	1		-1	GPR149	HGNC	HGNC:23627	protein_coding	YES	CCDS43162.1	ENSP00000374390	Q86SP6	Q2MKA6	UPI00001AEEA9	NM_001038705.1			4/4													0,1						HIGH	1	SNV	1		0,1	1										PASS		rs774432061	.												A	4	1	39	154338118	154338118	G	A	1	0	0	0	0	0	1	0	0	6540	1066	37	1		1	GPR149	3	154338118	Nonsense_Mutation	SNP	G	C3N-00175_TP	146724	154338118	43957441	362	10512											
GPR149	0	.	GRCh38	chr3	154427547	154427547	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggacgccactgcatatgcGttctgcctgcagttgatgat	7	12	11	11	3	1	2	0	2	1	0	2	3	1	3	2	1	4	4	2	1	1	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1143C>T	p.=	p.N381N	ENST00000389740	2/4	111	97	14	95	95	0	strelka-varscan-mutect	GPR149,synonymous_variant,p.=,ENST00000389740,NM_001038705.1;	A	ENST00000389740	Transcript	synonymous_variant	1243/2323	1143/2196	381/731	N	aaC/aaT		1		-1	GPR149	HGNC	HGNC:23627	protein_coding	YES	CCDS43162.1	ENSP00000374390	Q86SP6	Q2MKA6	UPI00001AEEA9	NM_001038705.1			2/4		hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF32																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	154427547	154427547	G	A	1	0	0	0	0	0	0	0	1	6540	1136	40	1		1	GPR149	3	154427547	Silent	SNP	G	C3N-00175_TP	89429	154427547	43868012	363	10513											
IQCJ	0	.	GRCh38	chr3	159245862	159245862	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaactgaaaagattgcAgaatcctctagaacaagtta	18	8	9	6	0	1	5	0	1	1	4	2	6	2	6	1	1	3	2	1	1	9	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.29A>C	p.Gln10Pro	p.Q10P	ENST00000476809	2/10	108	84	24	131	131	0	strelka-varscan-mutect	IQCJ-SCHIP1,missense_variant,p.Gln10Pro,ENST00000485419,NM_001197113.1;IQCJ-SCHIP1,missense_variant,p.Gln10Pro,ENST00000476809,NM_001197114.1;IQCJ,missense_variant,p.Gln10Pro,ENST00000397832,NM_001042706.2;IQCJ,missense_variant,p.Gln10Pro,ENST00000482126,NM_001197100.1;IQCJ,missense_variant,p.Gln10Pro,ENST00000451172,NM_001042705.2;IQCJ,non_coding_transcript_exon_variant,,ENST00000481796,;	C	ENST00000476809	Transcript	missense_variant	29/1611	29/1611	10/536	Q/P	cAg/cCg		1		1	IQCJ-SCHIP1	HGNC	HGNC:38842	protein_coding	YES	CCDS56291.1	ENSP00000418692			UPI00016277EB	NM_001197114.1	deleterious_low_confidence(0)		2/10																			MODERATE		SNV	5			1										PASS		.	.												C	3	2	39	159245862	159245862	A	C	1	0	0	0	0	1	0	0	0	7718	188	7	5		5	IQCJ	3	159245862	Missense_Mutation	SNP	A	C3N-00175_TP	4818315	159245862	39049697	364	10514											
SLITRK3	0	.	GRCh38	chr3	165187920	165187920	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacctgtatgttgtcttctCcaggacttcgaggtaatccg	8	13	10	10	2	2	0	0	0	2	0	5	3	3	1	3	2	1	3	3	2	3	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2911G>T	p.Glu971Ter	p.E971*	ENST00000475390	2/2	44	37	7	64	64	0	strelka-varscan-mutect	SLITRK3,stop_gained,p.Glu971Ter,ENST00000475390,NM_001318811.1,NM_001318810.1;SLITRK3,stop_gained,p.Glu971Ter,ENST00000241274,NM_014926.2;SLITRK3,downstream_gene_variant,,ENST00000497724,;	A	ENST00000475390	Transcript	stop_gained	3355/4555	2911/2934	971/977	E/*	Gag/Tag		1		-1	SLITRK3	HGNC	HGNC:23501	protein_coding	YES	CCDS3197.1	ENSP00000420091	O94933		UPI000004F259	NM_001318811.1,NM_001318810.1			2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF14																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	165187920	165187920	C	A	1	0	0	0	0	0	1	0	0	15035	864	30	2		2	SLITRK3	3	165187920	Nonsense_Mutation	SNP	C	C3N-00175_TP	5942058	165187920	33107639	365	10515											
SKIL	0	.	GRCh38	chr3	170392335	170392335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgaactcagacaggaacGggaagcaagacagaagttag	18	4	13	6	1	1	5	1	1	0	4	1	7	1	7	0	2	3	2	0	2	6	1	rs756630039		C3N-00175_TP	C3N-00175_NB	G	G																c.1973G>T	p.Arg658Leu	p.R658L	ENST00000458537	6/6	172	123	49	165	165	0	strelka-varscan-mutect	SKIL,missense_variant,p.Arg658Leu,ENST00000458537,NM_005414.4,NM_001248008.1;SKIL,missense_variant,p.Arg658Leu,ENST00000259119,;SKIL,missense_variant,p.Arg638Leu,ENST00000426052,NM_001145098.2;SKIL,missense_variant,p.Arg612Leu,ENST00000413427,NM_001145097.2;SKIL,downstream_gene_variant,,ENST00000470571,;	T	ENST00000458537	Transcript	missense_variant	2682/7182	1973/2055	658/684	R/L	cGg/cTg	rs756630039	1		1	SKIL	HGNC	HGNC:10897	protein_coding	YES	CCDS33890.1	ENSP00000415243	P12757		UPI000020A79D	NM_005414.4,NM_001248008.1	deleterious(0)		6/6		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10005:SF3,hmmpanther:PTHR10005																	MODERATE	1	SNV	1			1										PASS		rs756630039	.												T	3	4	39	170392335	170392335	G	T	1	0	0	0	0	1	0	0	0	14621	1116	39	1		1	SKIL	3	170392335	Missense_Mutation	SNP	G	C3N-00175_TP	5204415	170392335	27903224	366	10516											
ECE2	0	.	GRCh38	chr3	184290662	184290662	+	Frame_Shift_Del	DEL	C	C	-																															cccttctatgcccgcaaccaCcccaagtgtgtctgaagcag																								rs772894671		C3N-00175_TP	C3N-00175_NB	C	C																c.2118delC	p.Lys707ArgfsTer3	p.K707Rfs*3	ENST00000402825	15/19	66	38	28	102	101	1	sindel-varindel-pindel	ECE2,frameshift_variant,p.Lys707ArgfsTer3,ENST00000402825,NM_014693.3;ECE2,frameshift_variant,p.Lys589ArgfsTer3,ENST00000404464,NM_001100121.1;ECE2,frameshift_variant,p.Lys560ArgfsTer3,ENST00000359140,NM_001037324.2;ECE2,frameshift_variant,p.Lys635ArgfsTer3,ENST00000357474,NM_001100120.1;ECE2,frameshift_variant,p.Lys581ArgfsTer3,ENST00000430587,;ECE2,non_coding_transcript_exon_variant,,ENST00000488401,;ECE2,non_coding_transcript_exon_variant,,ENST00000490579,;	-	ENST00000402825	Transcript	frameshift_variant	2115/3445	2115/2652	705/883	H/X	caC/ca	rs772894671	1		1	ECE2	HGNC	HGNC:13275	protein_coding	YES	CCDS3256.2	ENSP00000384223	O60344		UPI0001596888	NM_014693.3			15/19		Gene3D:3.40.390.10,Pfam_domain:PF01431,hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF127,Superfamily_domains:SSF55486																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	39	184290662	184290662	C	-	1	0	1	0	1	0	0	0	0	4716	521	18	0		0	ECE2	3	184290662	Frame_Shift_Del	DEL	C	C3N-00175_TP	13898327	184290662	14004897	367	10517											
ST6GAL1	0	.	GRCh38	chr3	187042875	187042875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaaattggccatggggTctgattcccagtctgtatcc	7	12	13	9	0	2	1	0	1	2	0	4	2	4	2	3	5	0	1	3	5	2	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.172T>C	p.Ser58Pro	p.S58P	ENST00000169298	4/8	181	112	69	246	246	0	strelka-varscan-mutect	ST6GAL1,missense_variant,p.Ser58Pro,ENST00000169298,NM_173216.2;ST6GAL1,missense_variant,p.Ser58Pro,ENST00000448044,NM_003032.2;ST6GAL1,missense_variant,p.Ser58Pro,ENST00000448408,;ST6GAL1,missense_variant,p.Ser58Pro,ENST00000417392,;ST6GAL1,missense_variant,p.Ser58Pro,ENST00000438590,;ST6GAL1,missense_variant,p.Ser58Pro,ENST00000423451,;ST6GAL1,missense_variant,p.Ser58Pro,ENST00000446170,;ST6GAL1,missense_variant,p.Ser58Pro,ENST00000416235,;ST6GAL1,intron_variant,,ENST00000457772,NM_173217.2;ST6GAL1,intron_variant,,ENST00000455441,;ST6GAL1,intron_variant,,ENST00000427315,;ST6GAL1,upstream_gene_variant,,ENST00000442023,;ST6GAL1,downstream_gene_variant,,ENST00000440338,;ST6GAL1,downstream_gene_variant,,ENST00000458216,;ST6GAL1,downstream_gene_variant,,ENST00000430309,;ST6GAL1,upstream_gene_variant,,ENST00000448449,;ST6GAL1,upstream_gene_variant,,ENST00000464827,;	C	ENST00000169298	Transcript	missense_variant	846/4645	172/1221	58/406	S/P	Tct/Cct		1		1	ST6GAL1	HGNC	HGNC:10860	protein_coding	YES	CCDS3285.1	ENSP00000169298	P15907		UPI000000D97B	NM_173216.2			4/8		Low_complexity_(Seg):seg,hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF55,PIRSF_domain:PIRSF005557																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	187042875	187042875	T	C	1	0	0	0	0	1	0	0	0	15599	1667	58	5		5	ST6GAL1	3	187042875	Missense_Mutation	SNP	T	C3N-00175_TP	2752213	187042875	11252684	368	10518											
MASP1	0	.	GRCh38	chr3	187236404	187236404	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtgaggatccaggaCgcagagagcagggccccact	9	5	15	12	1	0	2	0	1	0	1	1	5	1	4	3	3	2	4	3	3	0	0	rs149695036		C3N-00175_TP	C3N-00175_NB	C	C																c.1467G>T	p.=	p.A489A	ENST00000296280	11/11	350	242	108	336	336	0	strelka-varscan-mutect	MASP1,synonymous_variant,p.=,ENST00000296280,NM_139125.3;MASP1,synonymous_variant,p.=,ENST00000392472,;MASP1,intron_variant,,ENST00000337774,NM_001879.5;MASP1,intron_variant,,ENST00000495249,;MASP1,intron_variant,,ENST00000468121,;MASP1,non_coding_transcript_exon_variant,,ENST00000480349,;	A	ENST00000296280	Transcript	synonymous_variant	1693/4015	1467/2187	489/728	A	gcG/gcT	rs149695036,COSM3781121,COSM5307671	1		-1	MASP1	HGNC	HGNC:6901	protein_coding	YES	CCDS33908.1	ENSP00000296280	P48740		UPI000007256E	NM_139125.3			11/11		Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001155,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,SMART_domains:SM00020,Superfamily_domains:SSF50494											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs149695036	.												A	2	1	39	187236404	187236404	C	A	1	0	0	0	0	0	0	0	1	9248	523	19	1		1	MASP1	3	187236404	Silent	SNP	C	C3N-00175_TP	193529	187236404	11059155	369	10519											
MASP1	0	.	GRCh38	chr3	187253241	187253241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacaggatcaggacactGtggctctgggtgctgatggg	8	9	17	7	0	2	1	1	1	1	0	2	4	2	4	0	6	2	2	0	6	1	0			C3N-00175_TP	C3N-00175_NB	G	G																c.819C>G	p.His273Gln	p.H273Q	ENST00000296280	6/11	227	172	55	342	342	0	strelka-varscan-mutect	MASP1,missense_variant,p.His273Gln,ENST00000337774,NM_001879.5;MASP1,missense_variant,p.His273Gln,ENST00000296280,NM_139125.3;MASP1,missense_variant,p.His160Gln,ENST00000392472,;MASP1,missense_variant,p.His273Gln,ENST00000169293,NM_001031849.2;MASP1,missense_variant,p.His247Gln,ENST00000392470,;MASP1,downstream_gene_variant,,ENST00000392475,;MASP1,intron_variant,,ENST00000495249,;MASP1,downstream_gene_variant,,ENST00000490558,;MASP1,downstream_gene_variant,,ENST00000460839,;MASP1,upstream_gene_variant,,ENST00000483719,;	C	ENST00000296280	Transcript	missense_variant	1045/4015	819/2187	273/728	H/Q	caC/caG	COSM4700768,COSM4700769,COSM4700770	1		-1	MASP1	HGNC	HGNC:6901	protein_coding	YES	CCDS33908.1	ENSP00000296280	P48740		UPI000007256E	NM_139125.3	deleterious(0)		6/11		Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS01180,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,SMART_domains:SM00042,Superfamily_domains:SSF49854											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												C	3	2	39	187253241	187253241	G	C	1	0	0	0	0	1	0	0	0	9248	1368	48	4		4	MASP1	3	187253241	Missense_Mutation	SNP	G	C3N-00175_TP	16837	187253241	11042318	370	10520											
ATP13A3	0	.	GRCh38	chr3	194431149	194431149	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagtatcactgagaatgaTtttccattcattgcaaaatg	13	14	6	8	0	2	2	2	2	0	1	4	3	4	2	2	0	1	2	2	0	4	5	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.2499A>G	p.=	p.K833K	ENST00000439040	23/33	121	82	39	165	165	0	strelka-varscan-mutect	ATP13A3,synonymous_variant,p.=,ENST00000439040,;ATP13A3,synonymous_variant,p.=,ENST00000256031,NM_024524.3;ATP13A3,synonymous_variant,p.=,ENST00000619199,;ATP13A3,non_coding_transcript_exon_variant,,ENST00000484023,;	C	ENST00000439040	Transcript	synonymous_variant	3291/7720	2499/3681	833/1226	K	aaA/aaG		1		-1	ATP13A3	HGNC	HGNC:24113	protein_coding	YES	CCDS43187.1	ENSP00000416508	Q9H7F0		UPI000049DFC3				23/33		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF249,TIGRFAM_domain:TIGR01657,Gene3D:3.40.50.1000																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	39	194431149	194431149	T	C	1	0	0	0	0	0	0	0	1	1277	1490	52	5		5	ATP13A3	3	194431149	Silent	SNP	T	C3N-00175_TP	7177908	194431149	3864410	371	10521											
HTT	0	.	GRCh38	chr4	3225721	3225721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgagcgggagctggggaGcatgagctacaaactcggcc	9	4	15	13	3	0	1	0	1	0	0	1	4	0	3	3	4	6	3	3	4	2	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.7826G>T	p.Ser2609Ile	p.S2609I	ENST00000355072	57/67	147	120	27	162	162	0	strelka-varscan-mutect	HTT,missense_variant,p.Ser2609Ile,ENST00000355072,NM_002111.7;HTT,upstream_gene_variant,,ENST00000513806,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,upstream_gene_variant,,ENST00000512068,;	T	ENST00000355072	Transcript	missense_variant	7971/13474	7826/9429	2609/3142	S/I	aGc/aTc		1		1	HTT	HGNC	HGNC:4851	protein_coding	YES	CCDS43206.1	ENSP00000347184	P42858		UPI000013D567	NM_002111.7	tolerated(0.11)		57/67		hmmpanther:PTHR10170,hmmpanther:PTHR10170:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	3225721	3225721	G	T	1	0	0	0	0	1	0	0	0	7353	971	34	2		2	HTT	4	3225721	Missense_Mutation	SNP	G	C3N-00175_TP		3225721	186988834	372	10522											
HTT	0	.	GRCh38	chr4	3238571	3238571	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagtttctgtccaaccagCagccatacccccagttcatg	10	9	8	14	0	2	1	1	0	1	1	3	2	3	1	5	0	4	3	5	0	2	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.9016C>T	p.Gln3006Ter	p.Q3006*	ENST00000355072	65/67	93	81	12	106	105	1	strelka-varscan-mutect	HTT,stop_gained,p.Gln3006Ter,ENST00000355072,NM_002111.7;HTT,downstream_gene_variant,,ENST00000513806,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,downstream_gene_variant,,ENST00000508321,;	T	ENST00000355072	Transcript	stop_gained	9161/13474	9016/9429	3006/3142	Q/*	Cag/Tag		1		1	HTT	HGNC	HGNC:4851	protein_coding	YES	CCDS43206.1	ENSP00000347184	P42858		UPI000013D567	NM_002111.7			65/67		hmmpanther:PTHR10170,hmmpanther:PTHR10170:SF10,Superfamily_domains:SSF48371																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	39	3238571	3238571	C	T	1	0	0	0	0	0	1	0	0	7353	711	25	3		3	HTT	4	3238571	Nonsense_Mutation	SNP	C	C3N-00175_TP	12850	3238571	186975984	373	10523											
STX18	0	.	GRCh38	chr4	4459463	4459463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcgttctgtgtctgtcatCctcccatattcagacatggt	6	16	7	12	1	5	1	2	0	3	1	8	1	7	1	2	1	0	1	2	1	1	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.261G>T	p.Arg87Ser	p.R87S	ENST00000306200	3/11	151	116	35	209	209	0	strelka-varscan-mutect	STX18,missense_variant,p.Arg87Ser,ENST00000306200,NM_016930.2;STX18,missense_variant,p.Arg87Ser,ENST00000505286,;STX18,missense_variant,p.Arg6Ser,ENST00000507908,;STX18,non_coding_transcript_exon_variant,,ENST00000503861,;STX18,non_coding_transcript_exon_variant,,ENST00000512195,;STX18,non_coding_transcript_exon_variant,,ENST00000512780,;	A	ENST00000306200	Transcript	missense_variant	325/2138	261/1008	87/335	R/S	agG/agT		1		-1	STX18	HGNC	HGNC:15942	protein_coding	YES	CCDS3377.1	ENSP00000305810	Q9P2W9		UPI0000049FDD	NM_016930.2	tolerated(0.27)		3/11		Pfam_domain:PF10496,hmmpanther:PTHR15959,hmmpanther:PTHR15959:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	4459463	4459463	C	A	1	0	0	0	0	1	0	0	0	15725	854	30	2		2	STX18	4	4459463	Missense_Mutation	SNP	C	C3N-00175_TP	1220892	4459463	185755092	374	10524											
C4orf50	0	.	GRCh38	chr4	5959452	5959452	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctaagctcttggtgaaaagCcaggatccttgctgggctca	9	11	11	10	0	3	1	1	1	2	0	4	2	4	2	2	3	3	3	2	3	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.4450G>C	p.Ala1484Pro	p.A1484P	ENST00000531445	12/12	185	161	24	248	246	2	strelka-varscan-mutect	C4orf50,missense_variant,p.Ala1484Pro,ENST00000531445,;C4orf50,missense_variant,p.Ala252Pro,ENST00000324058,;	G	ENST00000531445	Transcript	missense_variant	4526/6860	4450/4527	1484/1508	A/P	Gct/Cct		1		-1	C4orf50	HGNC	HGNC:33766	protein_coding	YES		ENSP00000437121		E9PNW5			deleterious(0.01)		12/12		hmmpanther:PTHR36866,Pfam_domain:PF15030																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	5959452	5959452	C	G	1	0	0	0	0	1	0	0	0	2089	739	26	4		4	C4orf50	4	5959452	Missense_Mutation	SNP	C	C3N-00175_TP	1499989	5959452	184255103	375	10525											
TAPT1	0	.	GRCh38	chr4	16176219	16176219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatctggaaacaacaccCagagatgatctgtaaataga	18	7	8	8	0	2	4	0	1	2	3	2	6	2	5	1	1	2	1	1	1	5	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1007G>T	p.Trp336Leu	p.W336L	ENST00000405303	9/14	80	74	6	113	113	0	strelka-varscan-mutect	TAPT1,missense_variant,p.Trp336Leu,ENST00000405303,NM_153365.2;RP11-452J21.2,upstream_gene_variant,,ENST00000513586,;TAPT1,non_coding_transcript_exon_variant,,ENST00000488714,;TAPT1,missense_variant,p.Trp129Leu,ENST00000513782,;TAPT1,3_prime_UTR_variant,,ENST00000505603,;TAPT1,upstream_gene_variant,,ENST00000508886,;TAPT1,downstream_gene_variant,,ENST00000507425,;TAPT1,upstream_gene_variant,,ENST00000507728,;TAPT1,downstream_gene_variant,,ENST00000504281,;	A	ENST00000405303	Transcript	missense_variant	1091/4591	1007/1704	336/567	W/L	tGg/tTg		1		-1	TAPT1	HGNC	HGNC:26887	protein_coding	YES	CCDS47030.1	ENSP00000385347	Q6NXT6		UPI0000253B29	NM_153365.2	deleterious(0.02)		9/14		hmmpanther:PTHR13317,hmmpanther:PTHR13317:SF4,Pfam_domain:PF05346																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	16176219	16176219	C	A	1	0	0	0	0	1	0	0	0	15953	595	21	2		2	TAPT1	4	16176219	Missense_Mutation	SNP	C	C3N-00175_TP	10216767	16176219	174038336	376	10526											
KCNIP4	0	.	GRCh38	chr4	20882616	20882616	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacaaacttgctttgaataGcaggagacgacgttttggca	14	10	10	7	2	0	2	0	1	0	1	0	4	0	2	0	2	4	4	0	2	4	5	rs760840330		C3N-00175_TP	C3N-00175_NB	G	G																c.155C>G	p.Ala52Gly	p.A52G	ENST00000382152	2/9	152	111	41	169	169	0	strelka-varscan-mutect	KCNIP4,missense_variant,p.Ala52Gly,ENST00000382152,NM_025221.5;KCNIP4,intron_variant,,ENST00000382148,NM_001035003.1;KCNIP4,intron_variant,,ENST00000382150,NM_147183.3;KCNIP4,intron_variant,,ENST00000447367,NM_147181.3;KCNIP4,intron_variant,,ENST00000509207,NM_001035004.1;KCNIP4,intron_variant,,ENST00000382149,;KCNIP4,non_coding_transcript_exon_variant,,ENST00000515373,;KCNIP4,intron_variant,,ENST00000515786,;	C	ENST00000382152	Transcript	missense_variant	323/1767	155/753	52/250	A/G	gCt/gGt	rs760840330	1		-1	KCNIP4	HGNC	HGNC:30083	protein_coding	YES	CCDS43216.1	ENSP00000371587	Q6PIL6		UPI000004A274	NM_025221.5	tolerated(0.41)		2/9		hmmpanther:PTHR23055:SF30,hmmpanther:PTHR23055																	MODERATE	1	SNV	5			1										PASS		rs760840330	.												C	3	2	39	20882616	20882616	G	C	1	0	0	0	0	1	0	0	0	7958	971	34	4		4	KCNIP4	4	20882616	Missense_Mutation	SNP	G	C3N-00175_TP	4706397	20882616	169331939	377	10527											
ADGRA3	0	.	GRCh38	chr4	22388317	22388318	+	Frame_Shift_Ins	INS	-	-	A																															actgagctgcagccgcctgcINSaagtttgttaatttgcagcc																								novel		C3N-00175_TP	C3N-00175_NB	-	-																c.3353dupT	p.Leu1118PhefsTer22	p.L1118Ffs*22	ENST00000334304	19/19	114	100	14	180	180	0	sindel-varindel-pindel	ADGRA3,frameshift_variant,p.Leu1118PhefsTer22,ENST00000334304,NM_145290.3;ADGRA3,non_coding_transcript_exon_variant,,ENST00000282943,;ADGRA3,downstream_gene_variant,,ENST00000504617,;ADGRA3,non_coding_transcript_exon_variant,,ENST00000499527,;ADGRA3,intron_variant,,ENST00000511051,;	A	ENST00000334304	Transcript	frameshift_variant	3623-3624/4566	3353-3354/3966	1118/1321	L/FX	ttg/ttTg		1		-1	ADGRA3	HGNC	HGNC:13839	protein_coding	YES	CCDS33964.1	ENSP00000334952	Q8IWK6		UPI00001D7735	NM_145290.3			19/19		hmmpanther:PTHR12011:SF35,hmmpanther:PTHR12011																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	39	22388317	22388317	-	A	1	0	1	1	0	0	0	0	0	354	709	25	0		0	ADGRA3	4	22388317	Frame_Shift_Ins	INS	-	C3N-00175_TP	1505701	22388317	167826238	378	10528											
APBB2	0	.	GRCh38	chr4	41013980	41013980	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtaaaatctcacagctCgaggaatcctgtgggtgggg	10	8	16	7	1	1	0	1	0	1	0	4	3	2	1	1	5	1	2	1	5	3	1	rs778240657		C3N-00175_TP	C3N-00175_NB	C	C																c.438G>T	p.=	p.S146S	ENST00000508593	6/18	102	85	17	144	144	0	strelka-varscan-mutect	APBB2,synonymous_variant,p.=,ENST00000295974,NM_001166050.1;APBB2,synonymous_variant,p.=,ENST00000513140,NM_173075.4;APBB2,synonymous_variant,p.=,ENST00000508593,NM_004307.1;APBB2,synonymous_variant,p.=,ENST00000506352,;APBB2,synonymous_variant,p.=,ENST00000513611,;APBB2,synonymous_variant,p.=,ENST00000509446,;APBB2,downstream_gene_variant,,ENST00000508707,;APBB2,downstream_gene_variant,,ENST00000508676,;APBB2,downstream_gene_variant,,ENST00000503503,;APBB2,downstream_gene_variant,,ENST00000503264,;APBB2,non_coding_transcript_exon_variant,,ENST00000509475,;	A	ENST00000508593	Transcript	synonymous_variant	982/3592	438/2280	146/759	S	tcG/tcT	rs778240657,COSM1429703,COSM4948167	1		-1	APBB2	HGNC	HGNC:582	protein_coding	YES	CCDS54762.1	ENSP00000427211	Q92870		UPI0001B8E1D4	NM_004307.1			6/18		hmmpanther:PTHR14058,hmmpanther:PTHR14058:SF11											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs778240657	.												A	2	1	39	41013980	41013980	C	A	1	0	0	0	0	0	0	0	1	881	871	31	1		1	APBB2	4	41013980	Silent	SNP	C	C3N-00175_TP	18625663	41013980	149200575	379	10529											
BEND4	0	.	GRCh38	chr4	42143957	42143957	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaggctaagaactcgactGcactgctgggcaaaggcatc	13	6	12	10	1	0	2	0	0	0	2	2	3	0	2	0	3	3	5	0	3	4	1	rs113164208		C3N-00175_TP	C3N-00175_NB	G	G																c.525C>G	p.Cys175Trp	p.C175W	ENST00000502486	3/6	24	19	5	19	19	0	strelka-varscan-mutect	BEND4,missense_variant,p.Cys175Trp,ENST00000502486,NM_207406.3;BEND4,missense_variant,p.Cys171Trp,ENST00000504360,NM_001159547.1;BEND4,missense_variant,p.Cys46Trp,ENST00000611697,;	C	ENST00000502486	Transcript	missense_variant	1105/8765	525/1605	175/534	C/W	tgC/tgG	rs113164208	1		-1	BEND4	HGNC	HGNC:23815	protein_coding	YES	CCDS47048.1	ENSP00000421169	Q6ZU67		UPI00015386AF	NM_207406.3	deleterious_low_confidence(0)		3/6		hmmpanther:PTHR35082																	MODERATE	1	SNV	1			1										PASS		rs113164208	.												C	3	2	39	42143957	42143957	G	C	1	0	0	0	0	1	0	0	0	1548	1311	46	4		4	BEND4	4	42143957	Missense_Mutation	SNP	G	C3N-00175_TP	1129977	42143957	148070598	380	10530											
ATP8A1	0	.	GRCh38	chr4	42616079	42616079	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcagctttatgtcgtttCtaaagtttaaaagcaaaaag	15	15	6	5	1	2	0	1	0	1	0	3	0	2	0	0	0	2	4	0	0	8	7			C3N-00175_TP	C3N-00175_NB	C	C																c.364-1G>T		p.X122_splice	ENST00000381668		49	41	8	134	133	1	strelka-varscan-mutect	ATP8A1,splice_acceptor_variant,,ENST00000381668,NM_006095.2;ATP8A1,splice_acceptor_variant,,ENST00000264449,NM_001105529.1;ATP8A1,upstream_gene_variant,,ENST00000504024,;	A	ENST00000381668	Transcript	splice_acceptor_variant	-/8270	364/3495	122/1164			COSM733404,COSM733405	1		-1	ATP8A1	HGNC	HGNC:13531	protein_coding	YES	CCDS3466.1	ENSP00000371084	Q9Y2Q0		UPI0000125063	NM_006095.2				4/36												1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												A	5	1	39	42616079	42616079	C	A	1	0	0	0	0	0	0	1	0	1345	927	32	2		2	ATP8A1	4	42616079	Splice_Site	SNP	C	C3N-00175_TP	472122	42616079	147598476	381	10531											
KCTD8	0	.	GRCh38	chr4	44175169	44175169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcattacaggaagtcccaCtttcacttcctttatcagtg	9	14	6	12	0	3	0	3	0	0	0	5	1	5	1	2	1	1	1	2	1	3	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1043G>T	p.Ser348Ile	p.S348I	ENST00000360029	2/2	77	59	18	68	67	1	strelka-varscan-mutect	KCTD8,missense_variant,p.Ser348Ile,ENST00000360029,NM_198353.2;KCTD8,missense_variant,p.Ser84Ile,ENST00000515268,;	A	ENST00000360029	Transcript	missense_variant	1327/2587	1043/1422	348/473	S/I	aGt/aTt		1		-1	KCTD8	HGNC	HGNC:22394	protein_coding	YES	CCDS3467.1	ENSP00000353129	Q6ZWB6		UPI00001C08D6	NM_198353.2	deleterious(0.01)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	44175169	44175169	C	A	1	0	0	0	0	1	0	0	0	8032	565	20	2		2	KCTD8	4	44175169	Missense_Mutation	SNP	C	C3N-00175_TP	1559090	44175169	146039386	382	10532											
KCTD8	0	.	GRCh38	chr4	44447816	44447816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgatgcgcccgcacacCatgatgcgcgccacacgccg	8	3	12	18	8	0	1	0	1	0	0	0	2	0	1	4	0	3	1	4	0	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.708G>T	p.Met236Ile	p.M236I	ENST00000360029	1/2	78	68	10	104	104	0	strelka-varscan-mutect	KCTD8,missense_variant,p.Met236Ile,ENST00000360029,NM_198353.2;KCTD8,upstream_gene_variant,,ENST00000515268,;	A	ENST00000360029	Transcript	missense_variant	992/2587	708/1422	236/473	M/I	atG/atT		1		-1	KCTD8	HGNC	HGNC:22394	protein_coding	YES	CCDS3467.1	ENSP00000353129	Q6ZWB6		UPI00001C08D6	NM_198353.2	tolerated(0.06)		1/2		hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF68																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	44447816	44447816	C	A	1	0	0	0	0	1	0	0	0	8032	594	21	2		2	KCTD8	4	44447816	Missense_Mutation	SNP	C	C3N-00175_TP	272647	44447816	145766739	383	10533											
NFXL1	0	.	GRCh38	chr4	47879096	47879096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtgcctgtaacttacCtcatgtttcccaagacattc	11	14	5	11	0	1	1	1	0	0	1	3	1	2	1	3	0	3	2	3	0	4	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1938G>T	p.Glu646Asp	p.E646D	ENST00000507489	16/23	24	17	7	95	94	1	strelka-mutect	NFXL1,missense_variant,p.Glu646Asp,ENST00000507489,NM_001278624.1;NFXL1,missense_variant,p.Glu646Asp,ENST00000381538,NM_152995.5;NFXL1,missense_variant,p.Glu646Asp,ENST00000329043,NM_001278623.1;RP11-121C2.3,intron_variant,,ENST00000634611,;RP11-121C2.3,intron_variant,,ENST00000634948,;NFXL1,missense_variant,p.Glu646Asp,ENST00000464756,;NFXL1,splice_region_variant,,ENST00000507131,;NFXL1,upstream_gene_variant,,ENST00000502448,;NFXL1,upstream_gene_variant,,ENST00000508115,;	A	ENST00000507489	Transcript	missense_variant,splice_region_variant	2115/3833	1938/2736	646/911	E/D	gaG/gaT		1		-1	NFXL1	HGNC	HGNC:18726	protein_coding	YES	CCDS3478.2	ENSP00000422037	Q6ZNB6		UPI000020BC5D	NM_001278624.1	deleterious(0.01)		16/23		hmmpanther:PTHR12360																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	47879096	47879096	C	A	1	0	0	0	0	1	0	0	0	10424	695	24	2		2	NFXL1	4	47879096	Missense_Mutation	SNP	C	C3N-00175_TP	3431280	47879096	142335459	384	10534											
CWH43	0	.	GRCh38	chr4	48994696	48994696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctagacccaactggctgCtggcaggggctgcttttggt	5	11	13	12	0	1	1	0	0	1	1	1	1	1	1	2	5	3	5	2	5	2	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.589C>A	p.Leu197Met	p.L197M	ENST00000226432	5/16	242	212	30	243	243	0	strelka-varscan-mutect	CWH43,missense_variant,p.Leu197Met,ENST00000226432,NM_025087.2;CWH43,missense_variant,p.Leu170Met,ENST00000513409,NM_001286791.1;CWH43,missense_variant,p.Leu197Met,ENST00000514053,;	A	ENST00000226432	Transcript	missense_variant	772/2472	589/2100	197/699	L/M	Ctg/Atg		1		1	CWH43	HGNC	HGNC:26133	protein_coding	YES	CCDS3486.1	ENSP00000226432	Q9H720		UPI000020BC89	NM_025087.2	deleterious(0.01)		5/16		Transmembrane_helices:TMhelix,hmmpanther:PTHR14859,hmmpanther:PTHR14859:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	48994696	48994696	C	A	1	0	0	0	0	1	0	0	0	3883	796	28	2		2	CWH43	4	48994696	Missense_Mutation	SNP	C	C3N-00175_TP	1115600	48994696	141219859	385	10535											
ERVMER34-1	0	.	GRCh38	chr4	52744808	52744808	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaatagctggtacagaaggCctttggtttggttttggcag	9	13	14	5	0	0	1	0	0	0	1	0	2	0	1	1	5	2	5	1	5	4	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.713G>T	p.Gly238Val	p.G238V	ENST00000443173	3/3	236	204	32	291	291	0	strelka-varscan-mutect	ERVMER34-1,missense_variant,p.Gly238Val,ENST00000443173,NM_001242690.1;ERVMER34-1,missense_variant,p.Gly238Val,ENST00000440542,NM_024534.5;SNORA26,upstream_gene_variant,,ENST00000391188,;ERVMER34-1,intron_variant,,ENST00000454756,;	A	ENST00000443173	Transcript	missense_variant	1574/3830	713/1692	238/563	G/V	gGc/gTc		1		-1	ERVMER34-1	HGNC	HGNC:42970	protein_coding	YES		ENSP00000460602	Q9H9K5		UPI000006F57C	NM_001242690.1	tolerated_low_confidence(0.09)		3/3		hmmpanther:PTHR10424,hmmpanther:PTHR10424:SF42																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	52744808	52744808	C	A	1	0	0	0	0	1	0	0	0	5105	739	26	2		2	ERVMER34-1	4	52744808	Missense_Mutation	SNP	C	C3N-00175_TP	3750112	52744808	137469747	386	10536											
GSX2	0	.	GRCh38	chr4	54100724	54100724	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgaaccatgcgcatcAtcaccaccacccgccgcagc	9	4	10	18	4	2	1	2	1	0	0	2	1	2	1	5	1	3	2	5	1	1	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.380A>G	p.His127Arg	p.H127R	ENST00000326902	1/2	180	156	24	221	221	0	strelka-varscan-mutect	GSX2,missense_variant,p.His127Arg,ENST00000326902,;GSX2,missense_variant,p.His127Arg,ENST00000611459,NM_133267.2;RP11-231C18.3,intron_variant,,ENST00000507166,;GSX2,intron_variant,,ENST00000503800,;GSX2,intron_variant,,ENST00000507839,;GSX2,upstream_gene_variant,,ENST00000548609,;	G	ENST00000326902	Transcript	missense_variant	694/1812	380/915	127/304	H/R	cAt/cGt		1		1	GSX2	HGNC	HGNC:24959	protein_coding	YES	CCDS3494.1	ENSP00000319118	Q9BZM3		UPI0000141A63		deleterious_low_confidence(0.01)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF170,hmmpanther:PTHR24326																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	54100724	54100724	A	G	1	0	0	0	0	1	0	0	0	6732	217	8	5		5	GSX2	4	54100724	Missense_Mutation	SNP	A	C3N-00175_TP	1355916	54100724	136113831	387	10537											
PDGFRA	0	.	GRCh38	chr4	54267627	54267627	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatgaagtcaaacattttgTtgtagaggtgcgggcctacc	10	11	12	8	1	1	2	1	1	0	1	1	2	1	2	2	2	3	3	2	2	4	5	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1007T>A	p.Val336Asp	p.V336D	ENST00000257290	7/23	154	97	57	179	179	0	strelka-varscan-mutect	PDGFRA,missense_variant,p.Val336Asp,ENST00000257290,NM_006206.4;RP11-231C18.3,intron_variant,,ENST00000507166,;PDGFRA,downstream_gene_variant,,ENST00000508170,;PDGFRA,downstream_gene_variant,,ENST00000504461,;PDGFRA,downstream_gene_variant,,ENST00000503856,;PDGFRA,downstream_gene_variant,,ENST00000512522,;PDGFRA,missense_variant,p.Val336Asp,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;	A	ENST00000257290	Transcript	missense_variant	1338/6576	1007/3270	336/1089	V/D	gTt/gAt		1		1	PDGFRA	HGNC	HGNC:8803	protein_coding	YES	CCDS3495.1	ENSP00000257290	P16234		UPI0000131793	NM_006206.4	tolerated(0.57)		7/23		hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000615,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	54267627	54267627	T	A	1	0	0	0	0	1	0	0	0	11749	1725	60	4		4	PDGFRA	4	54267627	Missense_Mutation	SNP	T	C3N-00175_TP	166903	54267627	135946928	388	10538											
KDR	0	.	GRCh38	chr4	55094948	55094948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccttgacggaatcgtgccCctttggtctataaaaaagca	11	11	8	11	2	1	1	0	1	1	0	3	2	2	2	3	2	2	1	3	2	5	4			C3N-00175_TP	C3N-00175_NB	C	C																c.2825G>A	p.Gly942Glu	p.G942E	ENST00000263923	21/30	224	177	47	251	250	1	strelka-varscan-mutect	KDR,missense_variant,p.Gly942Glu,ENST00000263923,NM_002253.2;RP11-530I17.1,downstream_gene_variant,,ENST00000511222,;KDR,non_coding_transcript_exon_variant,,ENST00000509309,;	T	ENST00000263923	Transcript	missense_variant	3121/5831	2825/4071	942/1356	G/E	gGg/gAg	COSM3301541	1		-1	KDR	HGNC	HGNC:6307	protein_coding	YES	CCDS3497.1	ENSP00000263923	P35968	A0A024RD88	UPI000003AE04	NM_002253.2	deleterious(0.02)		21/30		Pfam_domain:PF07714,PROSITE_profiles:PS50011,SMART_domains:SM00219,Superfamily_domains:SSF56112											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	39	55094948	55094948	C	T	1	0	0	0	0	1	0	0	0	8059	623	22	3		3	KDR	4	55094948	Missense_Mutation	SNP	C	C3N-00175_TP	827321	55094948	135119607	389	10539											
ADGRL3	0	.	GRCh38	chr4	62037730	62037730	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttaatatttaattggctaGgtacgaaaagagtatgggaa	16	12	11	2	1	0	1	0	0	0	1	0	3	0	2	0	3	1	4	0	3	9	8			C3N-00175_TP	C3N-00175_NB	G	G																c.3388-1G>T		p.X1130_splice	ENST00000514591		124	96	28	146	146	0	strelka-varscan-mutect	ADGRL3,splice_acceptor_variant,,ENST00000512091,NM_001322246.1;ADGRL3,splice_acceptor_variant,,ENST00000514591,NM_015236.4;ADGRL3,splice_acceptor_variant,,ENST00000509896,;ADGRL3,splice_acceptor_variant,,ENST00000511324,;ADGRL3,splice_acceptor_variant,,ENST00000508693,;ADGRL3,splice_acceptor_variant,,ENST00000507164,;ADGRL3,splice_acceptor_variant,,ENST00000506720,;ADGRL3,splice_acceptor_variant,,ENST00000506746,;ADGRL3,splice_acceptor_variant,,ENST00000507625,;ADGRL3,splice_acceptor_variant,,ENST00000506700,;ADGRL3,splice_acceptor_variant,,ENST00000504896,;ADGRL3,splice_acceptor_variant,,ENST00000514157,;ADGRL3,splice_acceptor_variant,,ENST00000508946,;ADGRL3,splice_acceptor_variant,,ENST00000514996,;ADGRL3,splice_acceptor_variant,,ENST00000502815,;	T	ENST00000514591	Transcript	splice_acceptor_variant	-/6297	3388/4410	1130/1469			COSM3604860,COSM3604861,COSM3604862,COSM5643065	1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4				22/24												1,1,1,1						HIGH	1	SNV	5		1,1,1,1	1										PASS		.	.												T	5	4	39	62037730	62037730	G	T	1	0	0	0	0	0	0	1	0	377	1014	35	2		2	ADGRL3	4	62037730	Splice_Site	SNP	G	C3N-00175_TP	6942782	62037730	128176825	390	10540											
CENPC	0	.	GRCh38	chr4	67519245	67519245	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttttaactgaaacctctgTacttgaaggcagcatattta	12	14	8	7	0	1	2	0	2	1	0	1	2	1	2	1	2	4	4	1	2	6	7	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.589A>T	p.Thr197Ser	p.T197S	ENST00000273853	6/19	77	64	13	109	109	0	strelka-varscan-mutect	CENPC,missense_variant,p.Thr197Ser,ENST00000273853,NM_001812.2;CENPC,missense_variant,p.Thr197Ser,ENST00000506882,;CENPC,missense_variant,p.Thr104Ser,ENST00000513216,;CENPC,non_coding_transcript_exon_variant,,ENST00000510189,;CENPC,upstream_gene_variant,,ENST00000506410,;	A	ENST00000273853	Transcript	missense_variant	840/6940	589/2832	197/943	T/S	Aca/Tca		1		-1	CENPC	HGNC	HGNC:1854	protein_coding	YES	CCDS47063.1	ENSP00000273853	Q03188		UPI00004135A3	NM_001812.2	deleterious(0.03)		6/19		Pfam_domain:PF15622,hmmpanther:PTHR16684																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	67519245	67519245	T	A	1	0	0	0	0	1	0	0	0	2937	1638	57	4		4	CENPC	4	67519245	Missense_Mutation	SNP	T	C3N-00175_TP	5481515	67519245	122695310	391	10541											
STAP1	0	.	GRCh38	chr4	67558827	67558827	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtatgatggctaagaagccCccaaaaccagcccctcgcag	12	5	10	14	1	0	2	0	1	0	1	1	2	0	2	5	2	3	3	5	2	5	2	rs757933476		C3N-00175_TP	C3N-00175_NB	C	C																c.18C>A	p.=	p.P6P	ENST00000265404	1/9	117	87	30	122	121	1	strelka-varscan-mutect	STAP1,synonymous_variant,p.=,ENST00000265404,NM_012108.2;STAP1,synonymous_variant,p.=,ENST00000396225,NM_001317769.1;	A	ENST00000265404	Transcript	synonymous_variant	100/1511	18/888	6/295	P	ccC/ccA	rs757933476	1		1	STAP1	HGNC	HGNC:24133	protein_coding	YES	CCDS3515.1	ENSP00000265404	Q9ULZ2	A0A024RD91	UPI0000073E6C	NM_012108.2			1/9		Low_complexity_(Seg):seg,hmmpanther:PTHR16186,hmmpanther:PTHR16186:SF10																	LOW	1	SNV	1			1										PASS		rs757933476	.												A	2	1	39	67558827	67558827	C	A	1	0	0	0	0	0	0	0	1	15627	610	22	2		2	STAP1	4	67558827	Silent	SNP	C	C3N-00175_TP	39582	67558827	122655728	392	10542											
STAP1	0	.	GRCh38	chr4	67583594	67583594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtttttatacagtgtcccGgaaagaggcaactgagatgc	12	11	11	7	1	0	2	0	1	0	2	1	4	1	3	1	2	3	2	1	2	4	4	rs537318483		C3N-00175_TP	C3N-00175_NB	G	G																c.551G>T	p.Arg184Leu	p.R184L	ENST00000265404	6/9	99	75	24	136	136	0	strelka-varscan-mutect	STAP1,missense_variant,p.Arg184Leu,ENST00000265404,NM_012108.2;STAP1,missense_variant,p.Arg184Leu,ENST00000396225,NM_001317769.1;	T	ENST00000265404	Transcript	missense_variant	633/1511	551/888	184/295	R/L	cGg/cTg	rs537318483,COSM1430590	1		1	STAP1	HGNC	HGNC:24133	protein_coding	YES	CCDS3515.1	ENSP00000265404	Q9ULZ2	A0A024RD91	UPI0000073E6C	NM_012108.2	deleterious(0)		6/9		PROSITE_profiles:PS50001,hmmpanther:PTHR16186,hmmpanther:PTHR16186:SF10,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs537318483	.												T	3	4	39	67583594	67583594	G	T	1	0	0	0	0	1	0	0	0	15627	1116	39	1		1	STAP1	4	67583594	Missense_Mutation	SNP	G	C3N-00175_TP	24767	67583594	122630961	393	10543											
YTHDC1	0	.	GRCh38	chr4	68322754	68322754	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacgtttctaaccttccCacatcccggactggttctcg	9	11	7	14	3	2	1	0	0	2	1	5	2	4	2	3	2	2	2	3	2	3	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1596G>T	p.=	p.V532V	ENST00000344157	11/17	65	43	22	74	73	1	strelka-varscan-mutect	YTHDC1,synonymous_variant,p.=,ENST00000344157,NM_001031732.2;YTHDC1,synonymous_variant,p.=,ENST00000355665,NM_133370.2;YTHDC1,synonymous_variant,p.=,ENST00000579690,;YTHDC1,upstream_gene_variant,,ENST00000507529,;YTHDC1,non_coding_transcript_exon_variant,,ENST00000506175,;	A	ENST00000344157	Transcript	synonymous_variant	1932/6232	1596/2184	532/727	V	gtG/gtT		1		-1	YTHDC1	HGNC	HGNC:30626	protein_coding	YES	CCDS33992.1	ENSP00000339245	Q96MU7		UPI000020B86D	NM_001031732.2			11/17		hmmpanther:PTHR12357,hmmpanther:PTHR12357:SF33,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	68322754	68322754	C	A	1	0	0	0	0	0	0	0	1	18057	608	21	2		2	YTHDC1	4	68322754	Silent	SNP	C	C3N-00175_TP	739160	68322754	121891801	394	10544											
CABS1	0	.	GRCh38	chr4	70335060	70335060	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctgaagatggtttgccCaaaatttattctcatcctcc	10	14	7	10	0	1	2	1	1	1	1	4	2	3	2	3	2	1	2	3	2	4	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.21C>A	p.=	p.P7P	ENST00000273936	1/2	79	70	9	69	69	0	strelka-varscan-mutect	CABS1,synonymous_variant,p.=,ENST00000273936,NM_033122.3;	A	ENST00000273936	Transcript	synonymous_variant	95/1532	21/1188	7/395	P	ccC/ccA		1		1	CABS1	HGNC	HGNC:30710	protein_coding	YES	CCDS3539.1	ENSP00000273936	Q96KC9		UPI0000071735	NM_033122.3			1/2		Pfam_domain:PF15367,hmmpanther:PTHR22810																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	70335060	70335060	C	A	1	0	0	0	0	0	0	0	1	2222	581	21	2		2	CABS1	4	70335060	Silent	SNP	C	C3N-00175_TP	2012306	70335060	119879495	395	10545											
ANKRD17	0	.	GRCh38	chr4	73177501	73177501	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttccagcattggattttcCaaatcatcctgatccaaaat	12	14	5	10	0	1	1	1	1	0	0	5	2	5	2	4	1	1	2	4	1	3	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.426G>C	p.Leu142Phe	p.L142F	ENST00000358602	2/34	73	56	17	102	102	0	strelka-varscan-mutect	ANKRD17,missense_variant,p.Leu142Phe,ENST00000358602,NM_015574.1,NM_032217.3;ANKRD17,missense_variant,p.Leu27Phe,ENST00000558247,;ANKRD17,missense_variant,p.Leu29Phe,ENST00000509867,NM_001286771.1;ANKRD17,missense_variant,p.Leu142Phe,ENST00000330838,NM_198889.1;ANKRD17,intron_variant,,ENST00000561029,;ANKRD17,non_coding_transcript_exon_variant,,ENST00000559367,;	G	ENST00000358602	Transcript	missense_variant	543/10784	426/7812	142/2603	L/F	ttG/ttC		1		-1	ANKRD17	HGNC	HGNC:23575	protein_coding	YES	CCDS34004.1	ENSP00000351416	O75179		UPI00002263B0	NM_015574.1,NM_032217.3	deleterious_low_confidence(0)		2/34		hmmpanther:PTHR23206,hmmpanther:PTHR23206:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	39	73177501	73177501	C	G	1	0	0	0	0	1	0	0	0	747	593	21	4		4	ANKRD17	4	73177501	Missense_Mutation	SNP	C	C3N-00175_TP	2842441	73177501	117037054	396	10546											
NUP54	0	.	GRCh38	chr4	76144292	76144292	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgagtaccaccaaagagtCctttgaatgaaaaattggaa	16	10	8	7	0	1	4	0	3	1	1	2	5	2	5	3	1	1	1	3	1	6	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.152G>T	p.Gly51Val	p.G51V	ENST00000264883	3/12	125	85	40	142	140	2	strelka-varscan-mutect	NUP54,missense_variant,p.Gly51Val,ENST00000264883,NM_017426.3;NUP54,missense_variant,p.Gly105Val,ENST00000514901,;NUP54,intron_variant,,ENST00000514987,NM_001278603.1;NUP54,splice_region_variant,,ENST00000515460,;NUP54,splice_region_variant,,ENST00000514307,;NUP54,splice_region_variant,,ENST00000506098,;NUP54,splice_region_variant,,ENST00000508583,;NUP54,splice_region_variant,,ENST00000510569,;NUP54,splice_region_variant,,ENST00000510884,;NUP54,missense_variant,p.Gly51Val,ENST00000507257,;NUP54,missense_variant,p.Asp113Tyr,ENST00000502850,;NUP54,missense_variant,p.Gly51Val,ENST00000512151,;NUP54,splice_region_variant,,ENST00000513352,;NUP54,intron_variant,,ENST00000504173,;	A	ENST00000264883	Transcript	missense_variant,splice_region_variant	293/2367	152/1524	51/507	G/V	gGa/gTa		1		-1	NUP54	HGNC	HGNC:17359	protein_coding	YES	CCDS3576.1	ENSP00000264883	Q7Z3B4		UPI0000036166	NM_017426.3	deleterious(0.02)		3/12		hmmpanther:PTHR13000,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	76144292	76144292	C	A	1	0	0	0	0	1	0	0	0	10832	869	30	2		2	NUP54	4	76144292	Missense_Mutation	SNP	C	C3N-00175_TP	2966791	76144292	114070263	397	10547											
AFF1	0	.	GRCh38	chr4	87114622	87114622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagctgtcagaagtctccgGcacagcaggagcccccacaa	11	4	12	14	1	2	1	1	0	1	1	3	3	2	3	3	3	3	3	3	3	2	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1789G>T	p.Ala597Ser	p.A597S	ENST00000395146	12/21	172	150	22	188	188	0	strelka-varscan-mutect	AFF1,missense_variant,p.Ala590Ser,ENST00000307808,NM_001313959.1,NM_005935.2;AFF1,missense_variant,p.Ala597Ser,ENST00000395146,NM_001166693.1;AFF1,missense_variant,p.Ala590Ser,ENST00000544085,;AFF1,upstream_gene_variant,,ENST00000503369,;	T	ENST00000395146	Transcript	missense_variant	2064/9285	1789/3657	597/1218	A/S	Gca/Tca		1		1	AFF1	HGNC	HGNC:7135	protein_coding	YES	CCDS54775.1	ENSP00000378578	P51825		UPI000013EC52	NM_001166693.1	tolerated(0.15)		12/21		Pfam_domain:PF05110,hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF6																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	87114622	87114622	G	T	1	0	0	0	0	1	0	0	0	433	1203	42	2		2	AFF1	4	87114622	Missense_Mutation	SNP	G	C3N-00175_TP	10970330	87114622	103099933	398	10548											
CCSER1	0	.	GRCh38	chr4	90468270	90468270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcactctgtcgtctcatGtgccgcagtagttcttactc	7	15	7	12	2	4	0	2	0	3	0	7	0	4	0	1	0	2	3	1	0	3	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1640G>A	p.Cys547Tyr	p.C547Y	ENST00000509176	5/11	115	102	13	149	149	0	strelka-varscan-mutect	CCSER1,missense_variant,p.Cys547Tyr,ENST00000509176,NM_001145065.1;CCSER1,missense_variant,p.Cys547Tyr,ENST00000432775,NM_207491.2;CCSER1,missense_variant,p.Cys547Tyr,ENST00000505073,;CCSER1,non_coding_transcript_exon_variant,,ENST00000508086,;CCSER1,non_coding_transcript_exon_variant,,ENST00000514352,;	A	ENST00000509176	Transcript	missense_variant	1928/5847	1640/2703	547/900	C/Y	tGt/tAt		1		1	CCSER1	HGNC	HGNC:29349	protein_coding	YES	CCDS47099.1	ENSP00000425040	Q9C0I3		UPI00005A6104	NM_001145065.1	deleterious(0)		5/11		hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	90468270	90468270	G	A	1	0	0	0	0	1	0	0	0	2652	1377	48	3		3	CCSER1	4	90468270	Missense_Mutation	SNP	G	C3N-00175_TP	3353648	90468270	99746285	399	10549											
BMPR1B	0	.	GRCh38	chr4	95154650	95154650	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacttgccaaaatgtcaGagtcccaggacattaaactc	16	8	6	11	0	1	1	1	0	0	1	3	2	2	2	2	1	3	0	2	1	5	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1576G>T	p.Glu526Ter	p.E526*	ENST00000440890	11/11	303	267	36	361	360	1	strelka-varscan-mutect	BMPR1B,stop_gained,p.Glu496Ter,ENST00000515059,NM_001203.2;BMPR1B,stop_gained,p.Glu526Ter,ENST00000440890,NM_001256793.1;BMPR1B,stop_gained,p.Glu496Ter,ENST00000394931,;BMPR1B,stop_gained,p.Glu496Ter,ENST00000264568,NM_001256794.1;BMPR1B,stop_gained,p.Glu496Ter,ENST00000509540,;BMPR1B,stop_gained,p.Glu496Ter,ENST00000512312,NM_001256792.1;	T	ENST00000440890	Transcript	stop_gained	1597/5388	1576/1599	526/532	E/*	Gag/Tag		1		1	BMPR1B	HGNC	HGNC:1077	protein_coding	YES	CCDS58919.1	ENSP00000401907	O00238		UPI00017A7CB9	NM_001256793.1			11/11		hmmpanther:PTHR23255:SF62,hmmpanther:PTHR23255																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	39	95154650	95154650	G	T	1	0	0	0	0	0	1	0	0	1625	943	33	2		2	BMPR1B	4	95154650	Nonsense_Mutation	SNP	G	C3N-00175_TP	4686380	95154650	95059905	400	10550											
PDHA2	0	.	GRCh38	chr4	95840937	95840937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgttctgtgtgttcgtgagGcaacaaaatttgcagctaac	11	13	10	7	1	1	1	0	1	1	0	2	1	1	1	0	1	4	5	0	1	4	4			C3N-00175_TP	C3N-00175_NB	G	G																c.787G>T	p.Ala263Ser	p.A263S	ENST00000295266	1/1	308	230	78	395	394	1	strelka-varscan-mutect	PDHA2,missense_variant,p.Ala263Ser,ENST00000295266,NM_005390.4;	T	ENST00000295266	Transcript	missense_variant	919/1456	787/1167	263/388	A/S	Gca/Tca	COSM4713335	1		1	PDHA2	HGNC	HGNC:8807	protein_coding	YES	CCDS3644.1	ENSP00000295266	P29803		UPI0000130C31	NM_005390.4	deleterious(0.03)		1/1		hmmpanther:PTHR11516:SF27,hmmpanther:PTHR11516,Pfam_domain:PF00676,TIGRFAM_domain:TIGR03182,Gene3D:3.40.50.970,Superfamily_domains:SSF52518											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	39	95840937	95840937	G	T	1	0	0	0	0	1	0	0	0	11753	1203	42	2		2	PDHA2	4	95840937	Missense_Mutation	SNP	G	C3N-00175_TP	686287	95840937	94373618	401	10551											
MTTP	0	.	GRCh38	chr4	99611376	99611376	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctagacattctctacTcgggttctggcattctaagg	9	12	9	11	1	3	1	0	0	3	1	5	1	3	1	1	3	2	2	1	3	3	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1993T>A	p.Ser665Thr	p.S665T	ENST00000511045	14/18	536	468	68	570	570	0	strelka-varscan-mutect	MTTP,missense_variant,p.Ser638Thr,ENST00000457717,NM_000253.3;MTTP,missense_variant,p.Ser638Thr,ENST00000265517,;MTTP,missense_variant,p.Ser665Thr,ENST00000511045,NM_001300785.1;RP11-766F14.1,intron_variant,,ENST00000508578,;	A	ENST00000511045	Transcript	missense_variant	2006/3154	1993/2766	665/921	S/T	Tcg/Acg		1		1	MTTP	HGNC	HGNC:7467	protein_coding	YES	CCDS75169.1	ENSP00000427679		E9PBP6	UPI0001D3B6EF	NM_001300785.1	tolerated(0.57)		14/18		PROSITE_profiles:PS51211,hmmpanther:PTHR13024,hmmpanther:PTHR13024:SF1																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	99611376	99611376	T	A	1	0	0	0	0	1	0	0	0	9961	1551	54	4		4	MTTP	4	99611376	Missense_Mutation	SNP	T	C3N-00175_TP	3770439	99611376	90603179	402	10552											
RP11-766F14.2	0	.	GRCh38	chr4	99654091	99654091	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcttctcgctgggaggaGgctgaaggcttgggaagtgg	6	10	18	7	2	1	1	0	1	1	0	3	4	1	4	0	6	0	4	0	6	2	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.558C>A	p.=	p.A186A	ENST00000511828	1/2	110	98	12	145	145	0	strelka-varscan-mutect	RP11-766F14.2,synonymous_variant,p.=,ENST00000511828,;	T	ENST00000511828	Transcript	synonymous_variant	558/10086	558/5382	186/1793	A	gcC/gcA		1		-1	RP11-766F14.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000427555		D6RIA3	UPI0001D3B6FE				1/2																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	99654091	99654091	G	T	1	0	0	0	0	0	0	0	1	13762	987	35	2		2	RP11-766F14.2	4	99654091	Silent	SNP	G	C3N-00175_TP	42715	99654091	90560464	403	10553											
MANBA	0	.	GRCh38	chr4	102723901	102723901	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtttccccaatagtgacTtcattgaacaggatttttga	10	16	7	8	0	2	3	1	3	1	0	3	4	3	4	2	1	1	1	2	1	3	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.339A>T	p.Glu113Asp	p.E113D	ENST00000226578	3/17	137	117	20	216	216	0	strelka-varscan-mutect	MANBA,missense_variant,p.Glu113Asp,ENST00000226578,NM_005908.3;MANBA,missense_variant,p.Glu113Asp,ENST00000505239,;MANBA,3_prime_UTR_variant,,ENST00000511813,;MANBA,non_coding_transcript_exon_variant,,ENST00000514430,;MANBA,upstream_gene_variant,,ENST00000506478,;KRT8P46,downstream_gene_variant,,ENST00000512037,;LRRC37A15P,downstream_gene_variant,,ENST00000514785,;	A	ENST00000226578	Transcript	missense_variant	439/2904	339/2640	113/879	E/D	gaA/gaT		1		-1	MANBA	HGNC	HGNC:6831	protein_coding	YES	CCDS3658.1	ENSP00000226578	O00462		UPI000013C8A2	NM_005908.3	tolerated(0.46)		3/17		Gene3D:2.60.120.260,hmmpanther:PTHR10066,hmmpanther:PTHR10066:SF65,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	102723901	102723901	T	A	1	0	0	0	0	1	0	0	0	9140	1606	56	4		4	MANBA	4	102723901	Missense_Mutation	SNP	T	C3N-00175_TP	3069810	102723901	87490654	404	10554											
LRIT3	0	.	GRCh38	chr4	109869720	109869720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catttcttccaaagacgctgGggattacaaatgtaaggcca	13	10	9	9	1	1	1	0	0	1	1	2	2	2	2	2	3	1	2	2	3	4	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.971G>T	p.Gly324Val	p.G324V	ENST00000594814	4/4	44	37	7	39	39	0	strelka-varscan-mutect	LRIT3,missense_variant,p.Gly141Val,ENST00000327908,;LRIT3,missense_variant,p.Gly324Val,ENST00000594814,NM_198506.4;	T	ENST00000594814	Transcript	missense_variant	971/3566	971/2040	324/679	G/V	gGg/gTg		1		1	LRIT3	HGNC	HGNC:24783	protein_coding	YES	CCDS3688.3	ENSP00000469759	Q3SXY7		UPI0000F07E94	NM_198506.4	deleterious(0)		4/4		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF236,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	109869720	109869720	G	T	1	0	0	0	0	1	0	0	0	8844	1232	43	2		2	LRIT3	4	109869720	Missense_Mutation	SNP	G	C3N-00175_TP	7145819	109869720	80344835	405	10555											
ALPK1	0	.	GRCh38	chr4	112431710	112431710	+	Frame_Shift_Del	DEL	T	T	-																															ccctcatatcgttctgcttcTtggtcttctgattctggtag																								novel		C3N-00175_TP	C3N-00175_NB	T	T																c.2164delT	p.Trp722GlyfsTer25	p.W722Gfs*25	ENST00000458497	11/16	199	168	31	262	262	0	sindel-varindel-pindel	ALPK1,frameshift_variant,p.Trp722GlyfsTer25,ENST00000458497,NM_025144.3,NM_001102406.1;ALPK1,frameshift_variant,p.Trp644GlyfsTer25,ENST00000504176,NM_001253884.1;ALPK1,frameshift_variant,p.Trp722GlyfsTer25,ENST00000177648,;ALPK1,downstream_gene_variant,,ENST00000508589,;ALPK1,3_prime_UTR_variant,,ENST00000509722,;ALPK1,non_coding_transcript_exon_variant,,ENST00000504745,;ALPK1,intron_variant,,ENST00000505127,;ALPK1,downstream_gene_variant,,ENST00000512847,;	-	ENST00000458497	Transcript	frameshift_variant	2442/5410	2163/3735	721/1244	S/X	tcT/tc		1		1	ALPK1	HGNC	HGNC:20917	protein_coding	YES	CCDS3697.1	ENSP00000398048	Q96QP1		UPI000045725F	NM_025144.3,NM_001102406.1			11/16		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF30,Low_complexity_(Seg):seg																	HIGH	1	deletion	5	1		1										PASS		.	.												-	7	5	39	112431710	112431710	T	-	1	0	1	0	1	0	0	0	0	644	1596	56	0		0	ALPK1	4	112431710	Frame_Shift_Del	DEL	T	C3N-00175_TP	2561990	112431710	77782845	406	10556											
ZGRF1	0	.	GRCh38	chr4	112603643	112603643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgagctgtgtcctctgaCcattacaccactagtagctg	8	12	9	12	0	1	2	0	2	1	0	2	2	2	2	3	0	3	3	3	0	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2857G>A	p.Val953Ile	p.V953I	ENST00000505019	10/28	141	126	15	178	177	1	strelka-varscan-mutect	ZGRF1,missense_variant,p.Val953Ile,ENST00000505019,NM_018392.4;ZGRF1,missense_variant,p.Val953Ile,ENST00000445203,;ZGRF1,missense_variant,p.Val953Ile,ENST00000309071,;ZGRF1,intron_variant,,ENST00000473015,;ZGRF1,downstream_gene_variant,,ENST00000264370,;	T	ENST00000505019	Transcript	missense_variant	2983/6652	2857/6315	953/2104	V/I	Gtc/Atc		1		-1	ZGRF1	HGNC	HGNC:25654	protein_coding	YES	CCDS3700.2	ENSP00000424737	Q86YA3		UPI0000EE2F8F	NM_018392.4	tolerated(0.34)		10/28																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	112603643	112603643	C	T	1	0	0	0	0	1	0	0	0	18253	507	18	3		3	ZGRF1	4	112603643	Missense_Mutation	SNP	C	C3N-00175_TP	171933	112603643	77610912	407	10557											
ZGRF1	0	.	GRCh38	chr4	112606021	112606022	+	Frame_Shift_Ins	INS	-	-	T																															ttttaccttagggtcacaggINStttttctctctatttgttta																								novel		C3N-00175_TP	C3N-00175_NB	-	-																c.2788dupA	p.Thr930AsnfsTer3	p.T930Nfs*3	ENST00000505019	9/28	111	102	9	243	242	1	sindel-varindel-pindel	ZGRF1,frameshift_variant,p.Thr930AsnfsTer3,ENST00000505019,NM_018392.4;ZGRF1,frameshift_variant,p.Thr930AsnfsTer3,ENST00000445203,;ZGRF1,frameshift_variant,p.Thr930AsnfsTer3,ENST00000309071,;ZGRF1,frameshift_variant,p.Thr930AsnfsTer3,ENST00000473015,;ZGRF1,non_coding_transcript_exon_variant,,ENST00000264370,;ZGRF1,downstream_gene_variant,,ENST00000514770,;	T	ENST00000505019	Transcript	frameshift_variant	2914-2915/6652	2788-2789/6315	930/2104	T/NX	acc/aAcc		1		-1	ZGRF1	HGNC	HGNC:25654	protein_coding	YES	CCDS3700.2	ENSP00000424737	Q86YA3		UPI0000EE2F8F	NM_018392.4			9/28																			HIGH	1	insertion	5			1										PASS		.	.												T	7	5	39	112606021	112606021	-	T	1	0	1	1	0	0	0	0	0	18253	1261	44	0		0	ZGRF1	4	112606021	Frame_Shift_Ins	INS	-	C3N-00175_TP	2378	112606021	77608534	408	10558											
ANK2	0	.	GRCh38	chr4	113357891	113357891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctaggaccccaactgaagaGgggaccccaacaagtgagca	14	3	12	12	0	0	3	0	2	0	1	0	5	0	5	4	3	3	2	4	3	5	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.9273G>T	p.Glu3091Asp	p.E3091D	ENST00000357077	38/46	232	168	64	197	197	0	strelka-varscan-mutect	ANK2,missense_variant,p.Glu3091Asp,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Glu3058Asp,ENST00000264366,;ANK2,missense_variant,p.Glu101Asp,ENST00000505342,;ANK2,3_prime_UTR_variant,,ENST00000612754,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;	T	ENST00000357077	Transcript	missense_variant	9326/14196	9273/11874	3091/3957	E/D	gaG/gaT		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	tolerated(0.12)		38/46		hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	113357891	113357891	G	T	1	0	0	0	0	1	0	0	0	721	991	35	2		2	ANK2	4	113357891	Missense_Mutation	SNP	G	C3N-00175_TP	751870	113357891	76856664	409	10559											
NDST4	0	.	GRCh38	chr4	114937441	114937441	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatacagctgaatgtgaacCgggtagacccctgagtgatg	11	8	13	9	1	0	5	0	4	0	1	0	5	0	5	3	1	3	3	3	1	4	2	rs56053034		C3N-00175_TP	C3N-00175_NB	C	C																c.1284G>T	p.=	p.P428P	ENST00000264363	5/14	86	65	21	78	78	0	strelka-varscan-mutect	NDST4,synonymous_variant,p.=,ENST00000613194,;NDST4,synonymous_variant,p.=,ENST00000264363,NM_022569.1;NDST4,synonymous_variant,p.=,ENST00000504854,;NDST4,non_coding_transcript_exon_variant,,ENST00000514570,;	A	ENST00000264363	Transcript	synonymous_variant	1963/3351	1284/2619	428/872	P	ccG/ccT	rs56053034	1		-1	NDST4	HGNC	HGNC:20779	protein_coding	YES	CCDS3706.1	ENSP00000264363	Q9H3R1		UPI000006CED7	NM_022569.1			5/14		Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF45																	LOW	1	SNV	1			1										PASS		rs56053034	.												A	2	1	39	114937441	114937441	C	A	1	0	0	0	0	0	0	0	1	10279	639	23	1		1	NDST4	4	114937441	Silent	SNP	C	C3N-00175_TP	1579550	114937441	75277114	410	10560											
METTL14	0	.	GRCh38	chr4	118694471	118694471	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaatatcctaaactgAgggagctcatcaggctaaag	15	9	10	7	0	2	3	2	2	0	1	3	4	3	4	1	2	2	2	1	2	7	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.448A>T	p.Arg150Trp	p.R150W	ENST00000388822	6/11	101	86	15	190	190	0	strelka-varscan-mutect	METTL14,missense_variant,p.Arg150Trp,ENST00000388822,NM_020961.3;METTL14,upstream_gene_variant,,ENST00000506780,;METTL14,3_prime_UTR_variant,,ENST00000628452,;METTL14,non_coding_transcript_exon_variant,,ENST00000502564,;METTL14,downstream_gene_variant,,ENST00000626212,;	T	ENST00000388822	Transcript	missense_variant	615/6669	448/1371	150/456	R/W	Agg/Tgg		1		1	METTL14	HGNC	HGNC:29330	protein_coding	YES	CCDS34053.1	ENSP00000373474	Q9HCE5		UPI00000437DD	NM_020961.3	deleterious(0)		6/11		PROSITE_profiles:PS51143,PROSITE_profiles:PS51592,hmmpanther:PTHR13107																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	118694471	118694471	A	T	1	0	0	0	0	1	0	0	0	9440	295	11	4		4	METTL14	4	118694471	Missense_Mutation	SNP	A	C3N-00175_TP	3757030	118694471	71520084	411	10561											
QRFPR	0	.	GRCh38	chr4	121380586	121380586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgatgaactgctcccgcGtcaggttgtggtcccgcagc	6	8	14	13	4	1	1	1	1	0	0	3	3	3	1	2	2	4	3	2	2	1	1	rs775342074		C3N-00175_TP	C3N-00175_NB	G	G																c.62C>A	p.Thr21Lys	p.T21K	ENST00000394427	1/6	83	76	7	112	112	0	strelka-varscan-mutect	QRFPR,missense_variant,p.Thr21Lys,ENST00000394427,NM_198179.2;QRFPR,missense_variant,p.Thr21Lys,ENST00000334383,;QRFPR,missense_variant,p.Thr21Lys,ENST00000507331,;QRFPR,non_coding_transcript_exon_variant,,ENST00000512235,;	T	ENST00000394427	Transcript	missense_variant	474/1708	62/1296	21/431	T/K	aCg/aAg	rs775342074,COSM5032755	1		-1	QRFPR	HGNC	HGNC:15565	protein_coding	YES	CCDS3719.1	ENSP00000377948	Q96P65		UPI0000047B23	NM_198179.2	deleterious(0)		1/6		hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF63											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs775342074	.												T	3	4	39	121380586	121380586	G	T	1	0	0	0	0	1	0	0	0	13033	1145	40	1		1	QRFPR	4	121380586	Missense_Mutation	SNP	G	C3N-00175_TP	2686115	121380586	68833969	412	10562											
SPATA5	0	.	GRCh38	chr4	123056423	123056423	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaatatgttggtgaatctGaaagagcagttagagaggta	16	11	12	2	0	1	4	0	2	1	2	1	5	1	4	0	2	1	4	0	2	7	5			C3N-00175_TP	C3N-00175_NB	G	G																c.2116G>T	p.Glu706Ter	p.E706*	ENST00000274008	12/16	71	64	7	124	124	0	strelka-varscan-mutect	SPATA5,stop_gained,p.Glu706Ter,ENST00000274008,NM_145207.2;SPATA5,non_coding_transcript_exon_variant,,ENST00000422835,;	T	ENST00000274008	Transcript	stop_gained	2185/8137	2116/2682	706/893	E/*	Gaa/Taa	COSM1309676	1		1	SPATA5	HGNC	HGNC:18119	protein_coding	YES	CCDS3730.1	ENSP00000274008	Q8NB90		UPI000013D9E6	NM_145207.2			12/16		hmmpanther:PTHR23077:SF27,hmmpanther:PTHR23077,Pfam_domain:PF00004,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	39	123056423	123056423	G	T	1	0	0	0	0	0	1	0	0	15355	1291	45	2		2	SPATA5	4	123056423	Nonsense_Mutation	SNP	G	C3N-00175_TP	1675837	123056423	67158132	413	10563											
ANKRD50	0	.	GRCh38	chr4	124710306	124710306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaacacaccccaggcaGctccctttccagagacacca	13	4	5	19	0	0	1	0	0	0	1	2	2	2	1	6	1	3	2	6	1	2	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.206C>T	p.Ala69Val	p.A69V	ENST00000504087	2/5	149	129	20	204	203	1	strelka-varscan-mutect	ANKRD50,missense_variant,p.Ala69Val,ENST00000504087,NM_020337.2;ANKRD50,intron_variant,,ENST00000515641,NM_001167882.1;	A	ENST00000504087	Transcript	missense_variant	1244/8794	206/4290	69/1429	A/V	gCt/gTt		1		-1	ANKRD50	HGNC	HGNC:29223	protein_coding	YES	CCDS34060.1	ENSP00000425658	Q9ULJ7		UPI00002377E8	NM_020337.2	tolerated(0.23)		2/5		hmmpanther:PTHR24151,hmmpanther:PTHR24151:SF1																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	124710306	124710306	G	A	1	0	0	0	0	1	0	0	0	781	971	34	3		3	ANKRD50	4	124710306	Missense_Mutation	SNP	G	C3N-00175_TP	1653883	124710306	65504249	414	10564											
FAT4	0	.	GRCh38	chr4	125318130	125318130	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcttgtagtaactctcctAgatgtgaatgatgaaaagcc	13	11	9	8	0	1	4	0	3	1	1	2	4	1	4	2	0	3	3	2	0	6	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1719A>G	p.=	p.L573L	ENST00000394329	1/17	263	202	61	331	331	0	strelka-varscan-mutect	FAT4,synonymous_variant,p.=,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;	G	ENST00000394329	Transcript	synonymous_variant	1732/16123	1719/14946	573/4981	L	ctA/ctG		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4			1/17		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	39	125318130	125318130	A	G	1	0	0	0	0	0	0	0	1	5552	407	15	5		5	FAT4	4	125318130	Silent	SNP	A	C3N-00175_TP	607824	125318130	64896425	415	10565											
FAT4	0	.	GRCh38	chr4	125446420	125446420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtggtctgcagtgatgcgGgatccccagagcctctttcc	6	11	12	12	1	2	2	0	1	2	1	4	3	4	3	4	2	3	1	4	2	1	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.7321G>C	p.Gly2441Arg	p.G2441R	ENST00000394329	8/17	199	163	36	191	191	0	strelka-varscan-mutect	FAT4,missense_variant,p.Gly2441Arg,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,missense_variant,p.Gly739Arg,ENST00000335110,;FAT4,non_coding_transcript_exon_variant,,ENST00000509444,;	C	ENST00000394329	Transcript	missense_variant	7334/16123	7321/14946	2441/4981	G/R	Gga/Cga		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	deleterious(0)		8/17		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	39	125446420	125446420	G	C	1	0	0	0	0	1	0	0	0	5552	1233	43	4		4	FAT4	4	125446420	Missense_Mutation	SNP	G	C3N-00175_TP	128290	125446420	64768135	416	10566											
ABHD18	0	.	GRCh38	chr4	128028478	128028478	+	Frame_Shift_Del	DEL	G	G	-																															tcctttcatatgttcagacaGattctttcaaaatgggacaa																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.703delG	p.Asp235IlefsTer10	p.D235Ifs*10	ENST00000398965	10/11	39	31	8	45	45	0	sindel-varindel-pindel	ABHD18,frameshift_variant,p.Asp187IlefsTer10,ENST00000388795,NM_001319305.1,NM_001319306.1;ABHD18,frameshift_variant,p.Asp235IlefsTer10,ENST00000398965,NM_001039717.1;ABHD18,frameshift_variant,p.Asp235IlefsTer10,ENST00000444616,;ABHD18,frameshift_variant,p.Asp142IlefsTer10,ENST00000611882,;ABHD18,3_prime_UTR_variant,,ENST00000473040,;	-	ENST00000398965	Transcript	frameshift_variant	1021/2177	703/1245	235/414	D/X	Gat/at		1		1	ABHD18	HGNC	HGNC:26111	protein_coding	YES	CCDS47131.1	ENSP00000381937	Q0P651		UPI00006C511D	NM_001039717.1			10/11		hmmpanther:PTHR13617,Pfam_domain:PF09752																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	39	128028478	128028478	G	-	1	0	1	0	1	0	0	0	0	91	956	33	0		0	ABHD18	4	128028478	Frame_Shift_Del	DEL	G	C3N-00175_TP	2582058	128028478	62186077	417	10567											
SETD7	0	.	GRCh38	chr4	139517979	139517979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttatagggctcaggcacatCaatgaccgtttcttcatcaa	11	12	8	10	1	5	1	4	1	1	0	5	1	5	1	1	2	0	4	1	2	4	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.826G>A	p.Asp276Asn	p.D276N	ENST00000274031	7/8	141	110	31	167	167	0	strelka-varscan-mutect	SETD7,missense_variant,p.Asp276Asn,ENST00000274031,NM_030648.2;SETD7,missense_variant,p.Asp276Asn,ENST00000506866,NM_001306199.1;SETD7,non_coding_transcript_exon_variant,,ENST00000515101,;	T	ENST00000274031	Transcript	missense_variant	1463/7365	826/1101	276/366	D/N	Gat/Aat		1		-1	SETD7	HGNC	HGNC:30412	protein_coding	YES	CCDS3748.1	ENSP00000274031	Q8WTS6		UPI0000135893	NM_030648.2	deleterious(0)		7/8		PROSITE_profiles:PS51577,PROSITE_profiles:PS50280,hmmpanther:PTHR23084:SF153,hmmpanther:PTHR23084,PIRSF_domain:PIRSF037249,Gene3D:2.170.270.10,SMART_domains:SM00317,Superfamily_domains:SSF82199																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	139517979	139517979	C	T	1	0	0	0	0	1	0	0	0	14414	826	29	3		3	SETD7	4	139517979	Missense_Mutation	SNP	C	C3N-00175_TP	11489501	139517979	50696576	418	10568											
INPP4B	0	.	GRCh38	chr4	142173706	142173706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaattaagcagtaggtCtgcatgggttgctataagag	12	11	13	5	0	1	2	0	0	1	2	1	2	1	2	0	2	4	6	0	2	5	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1285G>T	p.Asp429Tyr	p.D429Y	ENST00000513000	17/27	200	154	46	228	226	2	strelka-varscan-mutect	INPP4B,missense_variant,p.Asp429Tyr,ENST00000513000,NM_003866.2;INPP4B,missense_variant,p.Asp429Tyr,ENST00000509777,;INPP4B,missense_variant,p.Asp429Tyr,ENST00000262992,NM_001101669.1;INPP4B,missense_variant,p.Asp429Tyr,ENST00000508116,;INPP4B,missense_variant,p.Asp429Tyr,ENST00000510812,;INPP4B,missense_variant,p.Asp244Tyr,ENST00000511838,;INPP4B,missense_variant,p.Asp300Tyr,ENST00000514525,;INPP4B,3_prime_UTR_variant,,ENST00000512630,;	A	ENST00000513000	Transcript	missense_variant	1719/8831	1285/2775	429/924	D/Y	Gac/Tac		1		-1	INPP4B	HGNC	HGNC:6075	protein_coding	YES	CCDS3757.1	ENSP00000425487	O15327		UPI000013D37A	NM_003866.2	deleterious(0)		17/27		hmmpanther:PTHR12187,hmmpanther:PTHR12187:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	142173706	142173706	C	A	1	0	0	0	0	1	0	0	0	7656	913	32	2		2	INPP4B	4	142173706	Missense_Mutation	SNP	C	C3N-00175_TP	2655727	142173706	48040849	419	10569											
FREM3	0	.	GRCh38	chr4	143697971	143697971	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggtctctgccatgctggTaagagacactcccgttaata	9	12	9	11	1	2	1	0	0	2	1	4	2	3	1	2	2	2	3	2	2	3	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.2705A>T	p.Tyr902Phe	p.Y902F	ENST00000329798	1/8	220	167	53	285	285	0	strelka-varscan-mutect	FREM3,missense_variant,p.Tyr902Phe,ENST00000329798,NM_001168235.1;RP13-578N3.3,upstream_gene_variant,,ENST00000499587,;	A	ENST00000329798	Transcript	missense_variant	2705/6729	2705/6420	902/2139	Y/F	tAc/tTc		1		-1	FREM3	HGNC	HGNC:25172	protein_coding	YES	CCDS54808.1	ENSP00000332886	P0C091		UPI0000D615C2	NM_001168235.1	deleterious(0.01)		1/8		Pfam_domain:PF16184,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF31																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	39	143697971	143697971	T	A	1	0	0	0	0	1	0	0	0	5913	1638	57	4		4	FREM3	4	143697971	Missense_Mutation	SNP	T	C3N-00175_TP	1524265	143697971	46516584	420	10570											
KIAA0922	0	.	GRCh38	chr4	153604087	153604087	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacatttgcactgatgcCatgcgtgagaactggatcag	11	9	13	8	1	1	2	1	2	0	1	1	6	1	4	1	2	4	1	1	2	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3075C>T	p.=	p.A1025A	ENST00000409959	25/35	306	272	34	354	354	0	strelka-varscan-mutect	KIAA0922,synonymous_variant,p.=,ENST00000409663,NM_015196.3;KIAA0922,synonymous_variant,p.=,ENST00000409959,NM_001131007.1;KIAA0922,synonymous_variant,p.=,ENST00000240487,;KIAA0922,downstream_gene_variant,,ENST00000497247,;	T	ENST00000409959	Transcript	synonymous_variant	3124/5017	3075/4833	1025/1610	A	gcC/gcT		1		1	KIAA0922	HGNC	HGNC:29146	protein_coding	YES	CCDS47148.1	ENSP00000386787	A2VDJ0		UPI00017BE9AB	NM_001131007.1			25/35		hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF2																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	39	153604087	153604087	C	T	1	0	0	0	0	0	0	0	1	8095	581	21	3		3	KIAA0922	4	153604087	Silent	SNP	C	C3N-00175_TP	9906116	153604087	36610468	421	10571											
MARCH1	0	.	GRCh38	chr4	163854042	163854042	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggaggtttgtgaggcGtcagccaaatcccctgagat	10	10	13	8	1	1	2	1	2	0	1	2	4	2	3	3	3	1	1	3	3	2	1	rs375276624		C3N-00175_TP	C3N-00175_NB	G	G																c.90C>T	p.=	p.D30D	ENST00000503008	3/8	158	143	15	168	168	0	strelka-varscan-mutect	MARCH1,synonymous_variant,p.=,ENST00000503008,NM_001166373.1;MARCH1,synonymous_variant,p.=,ENST00000274056,;MARCH1,synonymous_variant,p.=,ENST00000514618,;MARCH1,synonymous_variant,p.=,ENST00000507270,;MARCH1,non_coding_transcript_exon_variant,,ENST00000503104,;MARCH1,intron_variant,,ENST00000510696,;	A	ENST00000503008	Transcript	synonymous_variant	1067/5877	90/870	30/289	D	gaC/gaT	rs375276624,COSM3335337	1		-1	MARCH1	HGNC	HGNC:26077	protein_coding	YES	CCDS54814.1	ENSP00000427223	Q8TCQ1		UPI0000037BB3	NM_001166373.1			3/8		hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF53											0,1						LOW	1	SNV	1		0,1	1										PASS		rs375276624	.												A	2	1	39	163854042	163854042	G	A	1	0	0	0	0	0	0	0	1	9223	1136	40	1		1	MARCH1	4	163854042	Silent	SNP	G	C3N-00175_TP	10249955	163854042	26360513	422	10572											
KLHL2	0	.	GRCh38	chr4	165294455	165294455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgacaaacttaccatttCttcagaagagaaggtaagga	17	9	9	6	0	2	3	1	1	1	2	2	5	2	4	1	2	2	1	1	2	6	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.653C>T	p.Ser218Phe	p.S218F	ENST00000514860	6/15	85	77	8	122	122	0	strelka-varscan-mutect	KLHL2,missense_variant,p.Ser214Phe,ENST00000226725,NM_007246.3;KLHL2,missense_variant,p.Ser126Phe,ENST00000538127,NM_001161522.1;KLHL2,missense_variant,p.Ser117Phe,ENST00000421009,;KLHL2,missense_variant,p.Ser218Phe,ENST00000514860,NM_001161521.1;KLHL2,missense_variant,p.Ser48Phe,ENST00000506761,;KLHL2,non_coding_transcript_exon_variant,,ENST00000509028,;KLHL2,non_coding_transcript_exon_variant,,ENST00000506541,;KLHL2,3_prime_UTR_variant,,ENST00000506824,;	T	ENST00000514860	Transcript	missense_variant	903/2442	653/1794	218/597	S/F	tCt/tTt		1		1	KLHL2	HGNC	HGNC:6353	protein_coding	YES	CCDS54815.1	ENSP00000424198	O95198		UPI0000E20649	NM_001161521.1	deleterious(0)		6/15		hmmpanther:PTHR24412:SF155,hmmpanther:PTHR24412,Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,SMART_domains:SM00875																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	165294455	165294455	C	T	1	0	0	0	0	1	0	0	0	8238	913	32	3		3	KLHL2	4	165294455	Missense_Mutation	SNP	C	C3N-00175_TP	1440413	165294455	24920100	423	10573											
DDX60L	0	.	GRCh38	chr4	168420319	168420319	+	Frame_Shift_Del	DEL	C	C	-																															aagcaccgcatagagttctgCcggcaggcaacgttttagta																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2456delG	p.Gly819AlafsTer17	p.G819Afs*17	ENST00000260184	18/38	120	108	12	181	181	0	sindel-varindel-pindel	DDX60L,frameshift_variant,p.Gly819AlafsTer17,ENST00000511577,;DDX60L,frameshift_variant,p.Gly819AlafsTer17,ENST00000260184,NM_001012967.2;DDX60L,frameshift_variant,p.Gly819AlafsTer17,ENST00000505890,NM_001291510.1;DDX60L,frameshift_variant,p.Gly547AlafsTer17,ENST00000505863,;DDX60L,non_coding_transcript_exon_variant,,ENST00000504793,;	-	ENST00000260184	Transcript	frameshift_variant	2677/6754	2456/5121	819/1706	G/X	gGc/gc		1		-1	DDX60L	HGNC	HGNC:26429	protein_coding	YES	CCDS47161.1	ENSP00000260184	Q5H9U9		UPI0003EAE873	NM_001012967.2			18/38		PROSITE_profiles:PS51192,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	39	168420319	168420319	C	-	1	0	1	0	1	0	0	0	0	4182	739	26	0		0	DDX60L	4	168420319	Frame_Shift_Del	DEL	C	C3N-00175_TP	3125864	168420319	21794236	424	10574											
DCTD	0	.	GRCh38	chr4	182915052	182915052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaattcacgatgcaggCgccgacctagaaggaaacat	13	8	10	10	3	2	2	1	1	1	1	2	5	2	3	2	2	2	1	2	2	4	3	rs778279392		C3N-00175_TP	C3N-00175_NB	C	C																c.148G>A	p.Ala50Thr	p.A50T	ENST00000357067	3/6	133	93	40	159	159	0	strelka-varscan-mutect	DCTD,missense_variant,p.Ala39Thr,ENST00000438320,NM_001921.2;DCTD,missense_variant,p.Ala50Thr,ENST00000357067,NM_001012732.1;DCTD,missense_variant,p.Ala39Thr,ENST00000503988,;DCTD,missense_variant,p.Ala39Thr,ENST00000503820,;DCTD,missense_variant,p.Ala39Thr,ENST00000510370,;DCTD,missense_variant,p.Ala39Thr,ENST00000512766,;DCTD,missense_variant,p.Ala39Thr,ENST00000514754,;DCTD,missense_variant,p.Ala39Thr,ENST00000510307,;DCTD,missense_variant,p.Ala39Thr,ENST00000503182,;DCTD,downstream_gene_variant,,ENST00000508994,;DCTD,non_coding_transcript_exon_variant,,ENST00000513383,;DCTD,3_prime_UTR_variant,,ENST00000507543,;DCTD,3_prime_UTR_variant,,ENST00000513348,;DCTD,3_prime_UTR_variant,,ENST00000509218,;DCTD,3_prime_UTR_variant,,ENST00000509757,;DCTD,intron_variant,,ENST00000500813,;DCTD,intron_variant,,ENST00000507631,;	T	ENST00000357067	Transcript	missense_variant	214/1931	148/570	50/189	A/T	Gcc/Acc	rs778279392,COSM291546	1		-1	DCTD	HGNC	HGNC:2710	protein_coding	YES	CCDS34108.1	ENSP00000349576	P32321		UPI00004EC28E	NM_001012732.1	deleterious(0)		3/6		PROSITE_profiles:PS51747,hmmpanther:PTHR11086,Gene3D:3.40.140.10,PIRSF_domain:PIRSF006019,Pfam_domain:PF00383,Superfamily_domains:SSF53927											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs778279392	.												T	3	4	39	182915052	182915052	C	T	1	0	0	0	0	1	0	0	0	4108	768	27	1		1	DCTD	4	182915052	Missense_Mutation	SNP	C	C3N-00175_TP	14494733	182915052	7299503	425	10575											
CYP4V2	0	.	GRCh38	chr4	186194549	186194549	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaataccgccacatgccGctgctgaagctctgggtcgg	8	7	14	12	3	1	1	0	1	1	0	2	3	1	2	3	3	4	3	3	3	3	1	rs201610304		C3N-00175_TP	C3N-00175_NB	G	G																c.264G>T	p.=	p.P88P	ENST00000378802	2/11	243	190	53	304	301	3	strelka-varscan-mutect	CYP4V2,synonymous_variant,p.=,ENST00000378802,NM_207352.3;FLJ38576,upstream_gene_variant,,ENST00000623820,;CYP4V2,upstream_gene_variant,,ENST00000507209,;	T	ENST00000378802	Transcript	synonymous_variant	568/2042	264/1578	88/525	P	ccG/ccT	rs201610304,COSM1053895	1		1	CYP4V2	HGNC	HGNC:23198	protein_coding	YES	CCDS34119.1	ENSP00000368079	Q6ZWL3		UPI00002372FE	NM_207352.3			2/11		hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF56,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463											0,1						LOW	1	SNV	1		0,1	1										PASS		rs201610304	.												T	2	4	39	186194549	186194549	G	T	1	0	0	0	0	0	0	0	1	3995	1074	38	1		1	CYP4V2	4	186194549	Silent	SNP	G	C3N-00175_TP	3279497	186194549	4020006	426	10576											
MTNR1A	0	.	GRCh38	chr4	186534324	186534324	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagggagttcttgctgcTgtacagtttgtcgtacttga	7	14	13	7	1	1	2	0	1	1	1	2	3	1	3	0	1	4	7	0	1	2	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.418A>C	p.Ser140Arg	p.S140R	ENST00000307161	2/2	363	269	94	277	277	0	strelka-varscan-mutect	MTNR1A,missense_variant,p.Ser140Arg,ENST00000307161,NM_005958.3;RP11-215A19.2,intron_variant,,ENST00000509111,;	G	ENST00000307161	Transcript	missense_variant	620/1289	418/1053	140/350	S/R	Agc/Cgc		1		-1	MTNR1A	HGNC	HGNC:7463	protein_coding	YES	CCDS3848.1	ENSP00000302811	P48039		UPI0000050407	NM_005958.3	tolerated(0.21)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF52,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00857																	MODERATE	1	SNV	1			1										PASS		rs1426911602	.												G	3	3	39	186534324	186534324	T	G	1	0	0	0	0	1	0	0	0	9938	1580	55	5		5	MTNR1A	4	186534324	Missense_Mutation	SNP	T	C3N-00175_TP	339775	186534324	3680231	427	10577											
TRIML2	0	.	GRCh38	chr4	188091439	188091439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagggagtctggacttgtGtctccatttgggatacagag	8	12	15	6	0	2	2	0	1	2	1	3	5	2	5	1	3	1	0	1	3	1	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1248C>A	p.Asp416Glu	p.D416E	ENST00000512729	7/7	124	107	17	165	165	0	strelka-varscan-mutect	TRIML2,missense_variant,p.Asp416Glu,ENST00000512729,NM_173553.2;TRIML2,missense_variant,p.Asp401Glu,ENST00000326754,NM_001303419.1;TRIML2,3_prime_UTR_variant,,ENST00000503141,;TRIML2,3_prime_UTR_variant,,ENST00000503475,;	T	ENST00000512729	Transcript	missense_variant	1473/1639	1248/1314	416/437	D/E	gaC/gaA		1		-1	TRIML2	HGNC	HGNC:26378	protein_coding	YES		ENSP00000422581	Q8N7C3		UPI000020B818	NM_173553.2	tolerated(0.1)		7/7		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF347,hmmpanther:PTHR24103,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	188091439	188091439	G	T	1	0	0	0	0	1	0	0	0	17048	1368	48	2		2	TRIML2	4	188091439	Missense_Mutation	SNP	G	C3N-00175_TP	1557115	188091439	2123116	428	10578											
TRIML2	0	.	GRCh38	chr4	188097147	188097147	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctccagatgctcaagcAgcagtgacttgctcctgaag	9	8	12	12	1	1	3	1	2	0	1	3	3	3	3	2	1	4	5	2	1	2	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.659T>A	p.Leu220Gln	p.L220Q	ENST00000512729	6/7	159	142	17	185	185	0	strelka-varscan-mutect	TRIML2,missense_variant,p.Leu220Gln,ENST00000512729,NM_173553.2;TRIML2,missense_variant,p.Leu205Gln,ENST00000326754,NM_001303419.1;TRIML2,synonymous_variant,p.=,ENST00000503141,;TRIML2,synonymous_variant,p.=,ENST00000503475,;TRIML2,downstream_gene_variant,,ENST00000511771,;	T	ENST00000512729	Transcript	missense_variant	884/1639	659/1314	220/437	L/Q	cTg/cAg		1		-1	TRIML2	HGNC	HGNC:26378	protein_coding	YES		ENSP00000422581	Q8N7C3		UPI000020B818	NM_173553.2	deleterious(0)		6/7		hmmpanther:PTHR24103:SF347,hmmpanther:PTHR24103																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	188097147	188097147	A	T	1	0	0	0	0	1	0	0	0	17048	188	7	4		4	TRIML2	4	188097147	Missense_Mutation	SNP	A	C3N-00175_TP	5708	188097147	2117408	429	10579											
SLC9A3	0	.	GRCh38	chr5	488468	488468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtccagcagcccaatctGcaggtcgcctggaagacaag	12	5	12	12	1	1	1	0	0	1	1	3	3	2	2	3	2	3	2	3	2	4	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.523C>A	p.Gln175Lys	p.Q175K	ENST00000264938	3/17	60	49	11	71	71	0	strelka-varscan-mutect	SLC9A3,missense_variant,p.Gln175Lys,ENST00000264938,NM_004174.2;SLC9A3,missense_variant,p.Gln175Lys,ENST00000514375,NM_001284351.1;	T	ENST00000264938	Transcript	missense_variant	533/2584	523/2505	175/834	Q/K	Cag/Aag		1		-1	SLC9A3	HGNC	HGNC:11073	protein_coding	YES	CCDS3855.1	ENSP00000264938	P48764		UPI000013D597	NM_004174.2	tolerated(0.61)		3/17		hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF90,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	488468	488468	G	T	1	0	0	0	0	1	0	0	0	14995	1328	46	2		2	SLC9A3	5	488468	Missense_Mutation	SNP	G	C3N-00175_TP		488468	181049791	430	10580											
SLC9A3	0	.	GRCh38	chr5	491818	491818	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacagcccggtggtggcCgcgttccacacggtacccac	7	5	14	15	4	0	0	0	0	0	0	1	1	1	1	4	5	2	2	4	5	1	2	rs146219885		C3N-00175_TP	C3N-00175_NB	C	C																c.465G>T	p.=	p.A155A	ENST00000264938	2/17	81	59	22	79	79	0	strelka-varscan-mutect	SLC9A3,synonymous_variant,p.=,ENST00000264938,NM_004174.2;SLC9A3,synonymous_variant,p.=,ENST00000514375,NM_001284351.1;	A	ENST00000264938	Transcript	synonymous_variant	475/2584	465/2505	155/834	A	gcG/gcT	rs146219885	1		-1	SLC9A3	HGNC	HGNC:11073	protein_coding	YES	CCDS3855.1	ENSP00000264938	P48764		UPI000013D597	NM_004174.2			2/17		Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF90,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999																	LOW	1	SNV	1			1										PASS		rs146219885	.												A	2	1	39	491818	491818	C	A	1	0	0	0	0	0	0	0	1	14995	639	23	1		1	SLC9A3	5	491818	Silent	SNP	C	C3N-00175_TP	3350	491818	181046441	431	10581											
NKD2	0	.	GRCh38	chr5	1032164	1032164	+	Frame_Shift_Del	DEL	G	G	-																															tcctgcaggagctgcccaatGgggaccccaaggaggggcct																								rs267600312		C3N-00175_TP	C3N-00175_NB	G	G																c.157delG	p.Asp53ThrfsTer119	p.D53Tfs*119	ENST00000296849	4/10	197	139	58	193	193	0	sindel-varindel-pindel	NKD2,frameshift_variant,p.Asp53ThrfsTer119,ENST00000296849,NM_033120.3;NKD2,frameshift_variant,p.Asp53ThrfsTer119,ENST00000274150,NM_001271082.1;NKD2,upstream_gene_variant,,ENST00000513296,;NKD2,upstream_gene_variant,,ENST00000523688,;NKD2,upstream_gene_variant,,ENST00000519933,;	-	ENST00000296849	Transcript	frameshift_variant	383/2155	154/1356	52/451	G/X	Ggg/gg	rs267600312	1		1	NKD2	HGNC	HGNC:17046	protein_coding	YES	CCDS3859.1	ENSP00000296849	Q969F2		UPI0000073E19	NM_033120.3			4/10		hmmpanther:PTHR22611:SF1,hmmpanther:PTHR22611																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	39	1032164	1032164	G	-	1	0	1	0	1	0	0	0	0	10477	1348	47	0		0	NKD2	5	1032164	Frame_Shift_Del	DEL	G	C3N-00175_TP	540346	1032164	180506095	432	10582											
SLC12A7	0	.	GRCh38	chr5	1052381	1052381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagtagatggtgatcacCtcccggccgccacccctgac	8	7	11	15	2	1	3	1	2	0	1	2	4	2	4	6	3	0	1	6	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3231G>T	p.Glu1077Asp	p.E1077D	ENST00000264930	24/24	275	215	60	195	194	1	strelka-varscan-mutect	SLC12A7,missense_variant,p.Glu1077Asp,ENST00000264930,NM_006598.2;SLC12A7,missense_variant,p.Glu983Asp,ENST00000634447,;SLC12A7,downstream_gene_variant,,ENST00000514994,;	A	ENST00000264930	Transcript	missense_variant	3275/5280	3231/3252	1077/1083	E/D	gaG/gaT		1		-1	SLC12A7	HGNC	HGNC:10915	protein_coding	YES	CCDS34129.1	ENSP00000264930	Q9Y666		UPI0000141815	NM_006598.2	deleterious(0)		24/24		Pfam_domain:PF03522,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF47,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00930																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	1052381	1052381	C	A	1	0	0	0	0	1	0	0	0	14653	680	24	2		2	SLC12A7	5	1052381	Missense_Mutation	SNP	C	C3N-00175_TP	20217	1052381	180485878	433	10583											
IRX4	0	.	GRCh38	chr5	1878382	1878382	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtctggctcagggaggTggcggcggcggcggcggcgg	3	5	22	11	6	3	0	2	0	1	0	3	1	3	1	0	10	0	1	0	10	0	0			C3N-00175_TP	C3N-00175_NB	T	T																c.1225A>T	p.Thr409Ser	p.T409S	ENST00000613726	7/7	170	129	41	77	76	1	strelka-varscan-mutect	IRX4,missense_variant,p.Thr383Ser,ENST00000505790,NM_001278634.1;IRX4,missense_variant,p.Thr409Ser,ENST00000613726,NM_001278635.1;IRX4,missense_variant,p.Thr409Ser,ENST00000622814,NM_001278633.1;IRX4,missense_variant,p.Thr383Ser,ENST00000513692,NM_001278632.1;IRX4,missense_variant,p.Thr383Ser,ENST00000231357,NM_016358.2;IRX4,downstream_gene_variant,,ENST00000511126,;IRX4,downstream_gene_variant,,ENST00000505938,;IRX4,3_prime_UTR_variant,,ENST00000508261,;	A	ENST00000613726	Transcript	missense_variant	1448/2403	1225/1638	409/545	T/S	Acc/Tcc	COSM5419871,COSM5419872	1		-1	IRX4	HGNC	HGNC:6129	protein_coding	YES	CCDS75225.1	ENSP00000482393	P78413		UPI000020BF08	NM_001278635.1	tolerated(0.09)		7/7		hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF16,Low_complexity_(Seg):seg											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1440463147	.												A	3	1	39	1878382	1878382	T	A	1	0	0	0	0	1	0	0	0	7754	1696	59	4		4	IRX4	5	1878382	Missense_Mutation	SNP	T	C3N-00175_TP	826001	1878382	179659877	434	10584											
MED10	0	.	GRCh38	chr5	6378477	6378477	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctaggtggtcaaacttctCcgccatcgcctcggcccgtc	5	10	9	17	4	3	0	1	0	2	0	7	0	3	0	4	3	1	0	4	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.7G>T	p.Glu3Ter	p.E3*	ENST00000255764	1/4	144	110	34	121	121	0	strelka-varscan-mutect	MED10,stop_gained,p.Glu3Ter,ENST00000255764,NM_032286.2;MED10,non_coding_transcript_exon_variant,,ENST00000504058,;MED10,upstream_gene_variant,,ENST00000503112,;	A	ENST00000255764	Transcript	stop_gained	118/1141	7/408	3/135	E/*	Gag/Tag		1		-1	MED10	HGNC	HGNC:28760	protein_coding	YES	CCDS34134.1	ENSP00000255764	Q9BTT4		UPI000007379B	NM_032286.2			1/4		hmmpanther:PTHR13345																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	6378477	6378477	C	A	1	0	0	0	0	0	1	0	0	9365	864	30	2		2	MED10	5	6378477	Nonsense_Mutation	SNP	C	C3N-00175_TP	4500095	6378477	175159782	435	10585											
ADCY2	0	.	GRCh38	chr5	7709354	7709354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctacatcacagggacagCatgaccacagagaacggcaa	16	3	9	13	1	1	2	1	1	0	1	1	4	1	3	2	2	3	2	2	2	3	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1545C>T	p.=	p.S515S	ENST00000338316	10/25	155	128	27	108	107	1	strelka-mutect	ADCY2,synonymous_variant,p.=,ENST00000338316,NM_020546.2;RP11-711G10.1,intron_variant,,ENST00000514105,;	T	ENST00000338316	Transcript	synonymous_variant	1634/6575	1545/3276	515/1091	S	agC/agT		1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2			10/25		Pfam_domain:PF06327,PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253																	LOW	1	SNV	1			1										PASS		rs1178012833	.												T	2	4	39	7709354	7709354	C	T	1	0	0	0	0	0	0	0	1	338	709	25	3		3	ADCY2	5	7709354	Silent	SNP	C	C3N-00175_TP	1330877	7709354	173828905	436	10586											
ADCY2	0	.	GRCh38	chr5	7743675	7743675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcccggtagaacgtccGtcctgggcatctcctttggg	4	13	12	12	3	1	1	0	0	1	1	5	1	4	1	4	3	1	3	4	3	2	3	rs770402477		C3N-00175_TP	C3N-00175_NB	G	G																c.1879G>A	p.Val627Ile	p.V627I	ENST00000338316	15/25	269	241	28	211	211	0	strelka-varscan-mutect	ADCY2,missense_variant,p.Val627Ile,ENST00000338316,NM_020546.2;RP11-711G10.1,intron_variant,,ENST00000514105,;	A	ENST00000338316	Transcript	missense_variant	1968/6575	1879/3276	627/1091	V/I	Gtc/Atc	rs770402477,COSM1438705,COSM5125819	1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2	tolerated(0.27)		15/25		PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,Transmembrane_helices:TMhelix											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs770402477	.												A	3	1	39	7743675	7743675	G	A	1	0	0	0	0	1	0	0	0	338	1145	40	1		1	ADCY2	5	7743675	Missense_Mutation	SNP	G	C3N-00175_TP	34321	7743675	173794584	437	10587											
MARCH6	0	.	GRCh38	chr5	10411340	10411340	+	Frame_Shift_Del	DEL	C	C	-																															aatttttgcacagggatcttCattcttatttattgggagac																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1699delC	p.His567IlefsTer61	p.H567Ifs*61	ENST00000274140	19/26	125	96	29	121	121	0	sindel-varindel-pindel	MARCH6,frameshift_variant,p.His567IlefsTer61,ENST00000274140,NM_005885.3;MARCH6,frameshift_variant,p.His519IlefsTer61,ENST00000449913,NM_001270660.1;MARCH6,frameshift_variant,p.His462IlefsTer61,ENST00000503788,NM_001270661.1;MARCH6,frameshift_variant,p.His265IlefsTer61,ENST00000510792,;MARCH6,upstream_gene_variant,,ENST00000505253,;MARCH6,non_coding_transcript_exon_variant,,ENST00000511802,;MARCH6,non_coding_transcript_exon_variant,,ENST00000512449,;MARCH6,upstream_gene_variant,,ENST00000514312,;	-	ENST00000274140	Transcript	frameshift_variant	1831/9569	1699/2733	567/910	H/X	Cat/at		1		1	MARCH6	HGNC	HGNC:30550	protein_coding	YES	CCDS34135.1	ENSP00000274140	O60337		UPI00001B94D6	NM_005885.3			19/26		hmmpanther:PTHR13145																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	39	10411340	10411340	C	-	1	0	1	0	1	0	0	0	0	9230	826	29	0		0	MARCH6	5	10411340	Frame_Shift_Del	DEL	C	C3N-00175_TP	2667665	10411340	171126919	438	10588											
ANKRD33B	0	.	GRCh38	chr5	10618381	10618381	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctttgtggataccgtggtgGccttagcagagtgcccccac	6	10	13	12	1	0	1	0	0	0	1	0	2	0	2	4	3	3	2	4	3	2	3			C3N-00175_TP	C3N-00175_NB	G	G																c.415G>C	p.Ala139Pro	p.A139P	ENST00000296657	2/4	282	208	74	199	199	0	strelka-varscan-mutect	ANKRD33B,missense_variant,p.Ala139Pro,ENST00000296657,NM_001164440.1;ANKRD33B,missense_variant,p.Ala139Pro,ENST00000504806,;	C	ENST00000296657	Transcript	missense_variant	415/9188	415/1485	139/494	A/P	Gcc/Ccc	COSM5580228	1		1	ANKRD33B	HGNC	HGNC:35240	protein_coding	YES	CCDS47191.1	ENSP00000296657	A6NCL7		UPI00001D7EE7	NM_001164440.1	tolerated(0.06)		2/4		PROSITE_profiles:PS50297,hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF1,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403											1						MODERATE	1	SNV	5		1	1										PASS		.	.												C	3	2	39	10618381	10618381	G	C	1	0	0	0	0	1	0	0	0	766	1203	42	4		4	ANKRD33B	5	10618381	Missense_Mutation	SNP	G	C3N-00175_TP	207041	10618381	170919878	439	10589											
TRIO	0	.	GRCh38	chr5	14479995	14479995	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgcagagaatcatgaagtAtcagctgttactgaaggtga	14	10	12	5	0	2	4	2	3	0	1	2	5	2	4	0	1	3	4	0	1	5	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.6320A>T	p.Tyr2107Phe	p.Y2107F	ENST00000344204	43/57	265	227	38	197	197	0	strelka-varscan-mutect	TRIO,missense_variant,p.Tyr2107Phe,ENST00000344204,NM_007118.2;TRIO,missense_variant,p.Tyr1840Phe,ENST00000513206,;TRIO,missense_variant,p.Tyr187Phe,ENST00000620511,;TRIO,missense_variant,p.Tyr2048Phe,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;TRIO,non_coding_transcript_exon_variant,,ENST00000511019,;TRIO,upstream_gene_variant,,ENST00000510281,;TRIO,downstream_gene_variant,,ENST00000506611,;	T	ENST00000344204	Transcript	missense_variant	6344/11100	6320/9294	2107/3097	Y/F	tAt/tTt		1		1	TRIO	HGNC	HGNC:12303	protein_coding	YES	CCDS3883.1	ENSP00000339299	O75962		UPI000034ECE6	NM_007118.2	deleterious(0)		43/57		PROSITE_profiles:PS50010,hmmpanther:PTHR22826:SF104,hmmpanther:PTHR22826,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	14479995	14479995	A	T	1	0	0	0	0	1	0	0	0	17049	449	16	4		4	TRIO	5	14479995	Missense_Mutation	SNP	A	C3N-00175_TP	3861614	14479995	167058264	440	10590											
FBXL7	0	.	GRCh38	chr5	15937154	15937154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgccactgcaagcgctgcGtcatcgagcacaccaacccg	11	4	9	17	5	1	0	1	0	0	0	2	1	1	0	3	0	6	3	3	0	3	0			C3N-00175_TP	C3N-00175_NB	G	G																c.1444G>A	p.Val482Ile	p.V482I	ENST00000504595	4/4	86	80	6	67	67	0	strelka-varscan-mutect	FBXL7,missense_variant,p.Val482Ile,ENST00000504595,NM_012304.4;FBXL7,missense_variant,p.Val440Ile,ENST00000329673,;FBXL7,missense_variant,p.Val435Ile,ENST00000510662,NM_001278317.1;MIR887,downstream_gene_variant,,ENST00000401258,;	A	ENST00000504595	Transcript	missense_variant	1925/4562	1444/1476	482/491	V/I	Gtc/Atc	COSM1543028	1		1	FBXL7	HGNC	HGNC:13604	protein_coding	YES	CCDS54833.1	ENSP00000423630	Q9UJT9		UPI00000724E0	NM_012304.4	tolerated(1)		4/4		hmmpanther:PTHR24006,Superfamily_domains:SSF52047											1						MODERATE	1	SNV	1		1	1										PASS		rs1219818114	.												A	3	1	39	15937154	15937154	G	A	1	0	0	0	0	1	0	0	0	5587	1145	40	1		1	FBXL7	5	15937154	Missense_Mutation	SNP	G	C3N-00175_TP	1457159	15937154	165601105	441	10591											
MARCH11	0	.	GRCh38	chr5	16179039	16179039	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtctcgccgggccttacCtgctccgcgccctggaagca	4	7	14	16	4	1	0	0	0	1	0	3	1	2	1	5	4	3	2	5	4	2	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.537G>T	p.Gln179His	p.Q179H	ENST00000332432	1/4	93	80	13	95	95	0	strelka-varscan-mutect	MARCH11,missense_variant,p.Gln179His,ENST00000332432,NM_001102562.1;MARCH11,upstream_gene_variant,,ENST00000507111,;RP11-19O2.2,upstream_gene_variant,,ENST00000509037,;MARCH11,intron_variant,,ENST00000505509,;	A	ENST00000332432	Transcript	missense_variant,splice_region_variant	737/1741	537/1209	179/402	Q/H	caG/caT		1		-1	MARCH11	HGNC	HGNC:33609	protein_coding	YES	CCDS47192.1	ENSP00000333181	A6NNE9		UPI00015B3D4A	NM_001102562.1	deleterious(0.02)		1/4		PROSITE_profiles:PS51292,hmmpanther:PTHR23012:SF67,hmmpanther:PTHR23012,Gene3D:3.30.40.10,Pfam_domain:PF12906,SMART_domains:SM00744,Superfamily_domains:SSF57850																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	39	16179039	16179039	C	A	1	0	0	0	0	1	0	0	0	9225	695	24	2		2	MARCH11	5	16179039	Missense_Mutation	SNP	C	C3N-00175_TP	241885	16179039	165359220	442	10592											
PRDM9	0	.	GRCh38	chr5	23522384	23522384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catacaaagaggtcagcgagCcgcaggatgatgattacctc	13	7	11	10	2	1	3	1	2	0	1	2	5	1	4	2	2	4	1	2	2	3	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.589C>T	p.Pro197Ser	p.P197S	ENST00000296682	7/11	718	604	114	540	540	0	strelka-varscan-mutect	PRDM9,missense_variant,p.Pro197Ser,ENST00000296682,NM_020227.2;PRDM9,missense_variant,p.Pro138Ser,ENST00000635252,;	T	ENST00000296682	Transcript	missense_variant	771/3691	589/2685	197/894	P/S	Ccg/Tcg		1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	deleterious(0)		7/11		hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,Pfam_domain:PF09514,Pfam_domain:PF00856																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	23522384	23522384	C	T	1	0	0	0	0	1	0	0	0	12595	739	26	3		3	PRDM9	5	23522384	Missense_Mutation	SNP	C	C3N-00175_TP	7343345	23522384	158015875	443	10593											
DROSHA	0	.	GRCh38	chr5	31401509	31401509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatttcttttaactcttGtctgtacttccgttcgatga	6	19	5	11	2	4	1	1	1	3	0	6	2	5	1	2	0	2	2	2	0	2	7	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.4048C>A	p.Gln1350Lys	p.Q1350K	ENST00000511367	35/35	483	396	87	341	341	0	strelka-varscan-mutect	DROSHA,missense_variant,p.Gln1350Lys,ENST00000511367,NM_013235.4;DROSHA,missense_variant,p.Gln1350Lys,ENST00000344624,;DROSHA,missense_variant,p.Gln1313Lys,ENST00000442743,;DROSHA,missense_variant,p.Gln1313Lys,ENST00000513349,NM_001100412.1;DROSHA,non_coding_transcript_exon_variant,,ENST00000511778,;DROSHA,non_coding_transcript_exon_variant,,ENST00000514927,;DROSHA,downstream_gene_variant,,ENST00000512166,;	T	ENST00000511367	Transcript	missense_variant	4293/5305	4048/4125	1350/1374	Q/K	Caa/Aaa		1		-1	DROSHA	HGNC	HGNC:17904	protein_coding	YES	CCDS47195.1	ENSP00000425979	Q9NRR4		UPI0000134351	NM_013235.4	tolerated(0.28)		35/35		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11207																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	31401509	31401509	G	T	1	0	0	0	0	1	0	0	0	4584	1386	48	2		2	DROSHA	5	31401509	Missense_Mutation	SNP	G	C3N-00175_TP	7879125	31401509	150136750	444	10594											
IL7R	0	.	GRCh38	chr5	35873535	35873535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagaaagctccaaccggCagcaatgtatgagattaaag	16	6	11	8	1	0	2	0	1	0	2	1	4	1	2	2	1	3	5	2	1	6	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.593C>A	p.Ala198Glu	p.A198E	ENST00000303115	5/8	474	362	112	324	324	0	strelka-varscan-mutect	IL7R,missense_variant,p.Ala198Glu,ENST00000303115,NM_002185.3;IL7R,missense_variant,p.Ala198Glu,ENST00000506850,;IL7R,missense_variant,p.Ala1Glu,ENST00000505093,;IL7R,non_coding_transcript_exon_variant,,ENST00000509668,;IL7R,intron_variant,,ENST00000514217,;IL7R,upstream_gene_variant,,ENST00000505875,;	A	ENST00000303115	Transcript	missense_variant	722/4626	593/1380	198/459	A/E	gCa/gAa		1		1	IL7R	HGNC	HGNC:6024	protein_coding	YES	CCDS3911.1	ENSP00000306157	P16871		UPI000013E861	NM_002185.3	deleterious(0.04)		5/8		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_patterns:PS01355,PROSITE_profiles:PS50853,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF27,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	35873535	35873535	C	A	1	0	0	0	0	1	0	0	0	7609	710	25	2		2	IL7R	5	35873535	Missense_Mutation	SNP	C	C3N-00175_TP	4472026	35873535	145664724	445	10595											
IL7R	0	.	GRCh38	chr5	35876038	35876038	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgccagattcatagggTggatgacattcaagctagag	12	9	13	7	0	2	3	2	1	0	2	2	5	2	5	1	3	2	1	1	3	3	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.932T>A	p.Val311Glu	p.V311E	ENST00000303115	8/8	479	372	107	268	268	0	strelka-varscan-mutect	IL7R,missense_variant,p.Val311Glu,ENST00000303115,NM_002185.3;IL7R,3_prime_UTR_variant,,ENST00000505093,;IL7R,downstream_gene_variant,,ENST00000506850,;IL7R,3_prime_UTR_variant,,ENST00000514217,;IL7R,non_coding_transcript_exon_variant,,ENST00000505875,;IL7R,downstream_gene_variant,,ENST00000509668,;	A	ENST00000303115	Transcript	missense_variant	1061/4626	932/1380	311/459	V/E	gTg/gAg		1		1	IL7R	HGNC	HGNC:6024	protein_coding	YES	CCDS3911.1	ENSP00000306157	P16871		UPI000013E861	NM_002185.3	deleterious(0)		8/8		hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF27																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	35876038	35876038	T	A	1	0	0	0	0	1	0	0	0	7609	1696	59	4		4	IL7R	5	35876038	Missense_Mutation	SNP	T	C3N-00175_TP	2503	35876038	145662221	446	10596											
IL7R	0	.	GRCh38	chr5	35876052	35876052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagggtggatgacattcaaGctagagatgaagtggaaggt	14	9	15	3	0	1	3	1	2	0	1	1	6	1	5	0	4	1	1	0	4	5	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.946G>C	p.Ala316Pro	p.A316P	ENST00000303115	8/8	471	365	106	297	297	0	strelka-varscan-mutect	IL7R,missense_variant,p.Ala316Pro,ENST00000303115,NM_002185.3;IL7R,3_prime_UTR_variant,,ENST00000505093,;IL7R,downstream_gene_variant,,ENST00000506850,;IL7R,3_prime_UTR_variant,,ENST00000514217,;IL7R,non_coding_transcript_exon_variant,,ENST00000505875,;IL7R,downstream_gene_variant,,ENST00000509668,;	C	ENST00000303115	Transcript	missense_variant	1075/4626	946/1380	316/459	A/P	Gct/Cct		1		1	IL7R	HGNC	HGNC:6024	protein_coding	YES	CCDS3911.1	ENSP00000306157	P16871		UPI000013E861	NM_002185.3	deleterious(0.01)		8/8		hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF27																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	35876052	35876052	G	C	1	0	0	0	0	1	0	0	0	7609	971	34	4		4	IL7R	5	35876052	Missense_Mutation	SNP	G	C3N-00175_TP	14	35876052	145662207	447	10597											
UGT3A2	0	.	GRCh38	chr5	36037947	36037947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatccccaccatgggcacaCcatgctggatggcctccatt	8	8	10	15	0	0	0	0	0	0	0	2	2	2	2	6	4	1	2	6	4	0	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1145G>T	p.Gly382Val	p.G382V	ENST00000282507	6/7	227	193	34	179	179	0	strelka-varscan-mutect	UGT3A2,missense_variant,p.Gly382Val,ENST00000282507,NM_174914.3;UGT3A2,missense_variant,p.Gly348Val,ENST00000513300,NM_001168316.1;UGT3A2,downstream_gene_variant,,ENST00000504954,;UGT3A2,3_prime_UTR_variant,,ENST00000504685,;	A	ENST00000282507	Transcript	missense_variant	1247/2355	1145/1572	382/523	G/V	gGt/gTt		1		-1	UGT3A2	HGNC	HGNC:27266	protein_coding	YES	CCDS3914.1	ENSP00000282507	Q3SY77		UPI000013DCE8	NM_174914.3	deleterious(0)		6/7		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF320,PROSITE_patterns:PS00375,Gene3D:3.40.50.2000,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		rs1352347621	.												A	3	1	39	36037947	36037947	C	A	1	0	0	0	0	1	0	0	0	17488	507	18	2		2	UGT3A2	5	36037947	Missense_Mutation	SNP	C	C3N-00175_TP	161895	36037947	145500312	448	10598											
NIPBL	0	.	GRCh38	chr5	37000868	37000868	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaaggaaagcatatgAaccaaaactaacacctgaag	22	4	8	7	0	0	3	0	2	0	1	0	5	0	4	2	1	4	1	2	1	10	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.3554A>C	p.Glu1185Ala	p.E1185A	ENST00000282516	13/47	190	139	51	278	278	0	strelka-varscan-mutect	NIPBL,missense_variant,p.Glu1185Ala,ENST00000282516,NM_133433.3;NIPBL,missense_variant,p.Glu1185Ala,ENST00000448238,NM_015384.4;NIPBL,intron_variant,,ENST00000621733,;NIPBL,downstream_gene_variant,,ENST00000504430,;NIPBL,downstream_gene_variant,,ENST00000503274,;NIPBL,downstream_gene_variant,,ENST00000509429,;	C	ENST00000282516	Transcript	missense_variant	4053/10435	3554/8415	1185/2804	E/A	gAa/gCa		1		1	NIPBL	HGNC	HGNC:28862	protein_coding	YES	CCDS3920.1	ENSP00000282516	Q6KC79		UPI00003761B5	NM_133433.3	tolerated(0.1)		13/47		hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	37000868	37000868	A	C	1	0	0	0	0	1	0	0	0	10463	246	9	5		5	NIPBL	5	37000868	Missense_Mutation	SNP	A	C3N-00175_TP	962921	37000868	144537391	449	10599											
C5orf42	0	.	GRCh38	chr5	37187461	37187461	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggctcaaaattatatcctGaataagttcttccatattaa	16	14	4	7	0	2	1	1	1	1	0	4	1	4	1	2	1	0	2	2	1	9	7	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.4033C>G	p.Gln1345Glu	p.Q1345E	ENST00000425232	23/52	128	118	10	119	119	0	strelka-varscan-mutect	C5orf42,missense_variant,p.Gln1345Glu,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Gln1345Glu,ENST00000508244,;C5orf42,missense_variant,p.Gln393Glu,ENST00000514429,;C5orf42,missense_variant,p.Gln350Glu,ENST00000509849,;	C	ENST00000425232	Transcript	missense_variant	4264/11199	4033/9594	1345/3197	Q/E	Cag/Gag		1		-1	C5orf42	HGNC	HGNC:25801	protein_coding	YES	CCDS34146.2	ENSP00000389014	Q9H799		UPI0001AAB3EA	NM_023073.3	deleterious(0)		23/52		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF3																	MODERATE	1	SNV	5			1										PASS		rs1408712462	.												C	3	2	39	37187461	37187461	G	C	1	0	0	0	0	1	0	0	0	2100	1299	45	4		4	C5orf42	5	37187461	Missense_Mutation	SNP	G	C3N-00175_TP	186593	37187461	144350798	450	10600											
NUP155	0	.	GRCh38	chr5	37349172	37349172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataataatattaatactaacCtgtattactcctttctcaga	15	16	2	8	0	1	1	1	0	1	1	3	1	2	1	2	0	3	1	2	0	8	9	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.903G>T	p.Gln301His	p.Q301H	ENST00000231498	8/35	20	16	4	24	24	0	strelka-mutect	NUP155,missense_variant,p.Gln301His,ENST00000231498,NM_153485.2;NUP155,missense_variant,p.Gln242His,ENST00000381843,NM_004298.3;NUP155,missense_variant,p.Gln301His,ENST00000513532,NM_001278312.1;NUP155,splice_region_variant,,ENST00000507233,;	A	ENST00000231498	Transcript	missense_variant,splice_region_variant	1107/8143	903/4176	301/1391	Q/H	caG/caT		1		-1	NUP155	HGNC	HGNC:8063	protein_coding	YES	CCDS3921.1	ENSP00000231498	O75694	A0A024R071	UPI0000001C7F	NM_153485.2	deleterious(0.01)		8/35		Pfam_domain:PF08801,hmmpanther:PTHR10350,hmmpanther:PTHR10350:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	37349172	37349172	C	A	1	0	0	0	0	1	0	0	0	10821	695	24	2		2	NUP155	5	37349172	Missense_Mutation	SNP	C	C3N-00175_TP	161711	37349172	144189087	451	10601											
EGFLAM	0	.	GRCh38	chr5	38438378	38438378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagagccccttgtgcccatgGgggcagctgccggcccagga	6	5	16	14	1	0	1	0	0	0	1	0	3	0	2	5	4	4	2	5	4	0	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2387G>A	p.Gly796Glu	p.G796E	ENST00000354891	17/23	184	107	77	161	161	0	strelka-varscan-mutect	EGFLAM,missense_variant,p.Gly796Glu,ENST00000322350,NM_152403.3;EGFLAM,missense_variant,p.Gly796Glu,ENST00000354891,NM_001205301.1;EGFLAM,missense_variant,p.Gly562Glu,ENST00000336740,NM_182798.2;EGFLAM,missense_variant,p.Gly162Glu,ENST00000397202,;	A	ENST00000354891	Transcript	missense_variant	2733/3963	2387/3054	796/1017	G/E	gGg/gAg		1		1	EGFLAM	HGNC	HGNC:26810	protein_coding	YES	CCDS56363.1	ENSP00000346964	Q63HQ2		UPI000022C806	NM_001205301.1	deleterious(0.04)		17/23		PROSITE_profiles:PS50026,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.10.25.10,Pfam_domain:PF00008,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	38438378	38438378	G	A	1	0	0	0	0	1	0	0	0	4802	1232	43	3		3	EGFLAM	5	38438378	Missense_Mutation	SNP	G	C3N-00175_TP	1089206	38438378	143099881	452	10602											
CARD6	0	.	GRCh38	chr5	40853122	40853122	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaggctcaaatttttcAgaggatactgaacttgaagc	14	11	10	6	0	2	5	2	3	0	2	2	6	2	6	0	2	3	1	0	2	5	4	rs771001915		C3N-00175_TP	C3N-00175_NB	A	A																c.1790A>T	p.Gln597Leu	p.Q597L	ENST00000254691	3/3	220	178	42	152	152	0	strelka-varscan-mutect	CARD6,missense_variant,p.Gln597Leu,ENST00000254691,NM_032587.3;CARD6,intron_variant,,ENST00000381677,;	T	ENST00000254691	Transcript	missense_variant	1989/4221	1790/3114	597/1037	Q/L	cAg/cTg	rs771001915	1		1	CARD6	HGNC	HGNC:16394	protein_coding	YES	CCDS3935.1	ENSP00000254691	Q9BX69		UPI000013CE50	NM_032587.3	tolerated(0.12)		3/3		hmmpanther:PTHR22797,hmmpanther:PTHR22797:SF36																	MODERATE	1	SNV	1			1										PASS		rs771001915	.												T	3	4	39	40853122	40853122	A	T	1	0	0	0	0	1	0	0	0	2346	188	7	4		4	CARD6	5	40853122	Missense_Mutation	SNP	A	C3N-00175_TP	2414744	40853122	140685137	453	10603											
MROH2B	0	.	GRCh38	chr5	41000749	41000750	+	Frame_Shift_Ins	INS	-	-	A																															ctcttttttatttcttcagcINSaaaaaaaatcttccaccttc																								rs548836249		C3N-00175_TP	C3N-00175_NB	-	-																c.4278dupT	p.Ala1427CysfsTer2	p.A1427Cfs*2	ENST00000399564	38/42	166	134	32	123	121	2	sindel-varindel	MROH2B,frameshift_variant,p.Ala1427CysfsTer2,ENST00000399564,NM_173489.4;MROH2B,frameshift_variant,p.Ala982CysfsTer2,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;MROH2B,upstream_gene_variant,,ENST00000511934,;	A	ENST00000399564	Transcript	frameshift_variant	4729-4730/5239	4278-4279/4758	1426-1427/1585	-/X	-/T	rs548836249	1		-1	MROH2B	HGNC	HGNC:26857	protein_coding	YES	CCDS47202.1	ENSP00000382476	Q7Z745		UPI000020CA04	NM_173489.4			38/42		hmmpanther:PTHR23120:SF22,hmmpanther:PTHR23120,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	39	41000749	41000749	-	A	1	0	1	1	0	0	0	0	0	9745	710	25	0		0	MROH2B	5	41000749	Frame_Shift_Ins	INS	-	C3N-00175_TP	147627	41000749	140537510	454	10604											
OXCT1	0	.	GRCh38	chr5	41862749	41862749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggaaaaggaacaaacacatCcctgaaatattaaaaaaaaa	24	6	5	6	0	0	1	0	1	0	0	1	3	1	3	1	2	2	0	1	2	11	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.80G>A	p.Gly27Glu	p.G27E	ENST00000196371	2/17	420	349	71	284	282	2	strelka-varscan-mutect	OXCT1,missense_variant,p.Gly27Glu,ENST00000196371,NM_000436.3;	T	ENST00000196371	Transcript	missense_variant,splice_region_variant	241/3388	80/1563	27/520	G/E	gGa/gAa		1		-1	OXCT1	HGNC	HGNC:8527	protein_coding	YES	CCDS3937.1	ENSP00000196371	P55809	A0A024R040	UPI0000000C9A	NM_000436.3	tolerated(0.26)		2/17																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	41862749	41862749	C	T	1	0	0	0	0	1	0	0	0	11401	869	30	3		3	OXCT1	5	41862749	Missense_Mutation	SNP	C	C3N-00175_TP	862000	41862749	139675510	455	10605											
HMGCS1	0	.	GRCh38	chr5	43297107	43297107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatctactataggatattCagatagcatatcaggcttgt	12	14	7	8	0	3	1	2	0	1	1	4	2	4	2	1	2	2	2	1	2	6	8	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.634G>C	p.Glu212Gln	p.E212Q	ENST00000325110	5/11	214	201	13	160	160	0	strelka-varscan-mutect	HMGCS1,missense_variant,p.Glu212Gln,ENST00000325110,NM_001098272.2;HMGCS1,missense_variant,p.Glu212Gln,ENST00000433297,NM_002130.7;HMGCS1,downstream_gene_variant,,ENST00000511774,;HMGCS1,downstream_gene_variant,,ENST00000507004,;HMGCS1,downstream_gene_variant,,ENST00000507293,;HMGCS1,upstream_gene_variant,,ENST00000508319,;HMGCS1,upstream_gene_variant,,ENST00000514610,;	G	ENST00000325110	Transcript	missense_variant	841/3506	634/1563	212/520	E/Q	Gaa/Caa		1		-1	HMGCS1	HGNC	HGNC:5007	protein_coding	YES	CCDS34154.1	ENSP00000322706	Q01581	A0A024R059	UPI000012C9BC	NM_001098272.2	deleterious(0)		5/11		Gene3D:3.40.47.10,Pfam_domain:PF08540,hmmpanther:PTHR11877,hmmpanther:PTHR11877:SF12,Superfamily_domains:SSF53901,TIGRFAM_domain:TIGR01833																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	43297107	43297107	C	G	1	0	0	0	0	1	0	0	0	7124	835	29	4		4	HMGCS1	5	43297107	Missense_Mutation	SNP	C	C3N-00175_TP	1434358	43297107	138241152	456	10606											
ITGA1	0	.	GRCh38	chr5	52849378	52849378	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctaaagttgttctacgctgCtgcgtatcattcaatgttga	9	15	8	9	2	3	1	2	1	1	0	3	1	3	1	1	0	3	6	1	0	5	7	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.75C>G	p.Cys25Trp	p.C25W	ENST00000282588	2/29	105	75	30	103	103	0	strelka-varscan-mutect	ITGA1,missense_variant,p.Cys25Trp,ENST00000282588,NM_181501.1;	G	ENST00000282588	Transcript	missense_variant	533/10757	75/3540	25/1179	C/W	tgC/tgG		1		1	ITGA1	HGNC	HGNC:6134	protein_coding	YES	CCDS3955.1	ENSP00000282588	P56199		UPI00001A95E8	NM_181501.1	deleterious(0.02)		2/29		hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF22,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	52849378	52849378	C	G	1	0	0	0	0	1	0	0	0	7779	805	28	4		4	ITGA1	5	52849378	Missense_Mutation	SNP	C	C3N-00175_TP	9552271	52849378	128688881	457	10607											
ITGA1	0	.	GRCh38	chr5	52920423	52920423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaggttcaaaggaacatCacagttcgaaaatcagaatg	19	7	9	6	1	3	2	3	0	0	2	4	4	3	3	0	2	1	2	0	2	6	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2247C>T	p.=	p.I749I	ENST00000282588	17/29	83	71	12	105	105	0	strelka-varscan-mutect	ITGA1,synonymous_variant,p.=,ENST00000282588,NM_181501.1;ITGA1,non_coding_transcript_exon_variant,,ENST00000504669,;	T	ENST00000282588	Transcript	synonymous_variant	2705/10757	2247/3540	749/1179	I	atC/atT		1		1	ITGA1	HGNC	HGNC:6134	protein_coding	YES	CCDS3955.1	ENSP00000282588	P56199		UPI00001A95E8	NM_181501.1			17/29		Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF22,Superfamily_domains:SSF69179																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	52920423	52920423	C	T	1	0	0	0	0	0	0	0	1	7779	816	29	3		3	ITGA1	5	52920423	Silent	SNP	C	C3N-00175_TP	71045	52920423	128617836	458	10608											
ITGA2	0	.	GRCh38	chr5	53065949	53065949	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaccgatgtgtctattGgtgcctttggacaagtggtt	7	14	11	9	1	2	0	1	0	1	0	2	2	2	1	3	3	1	1	3	3	2	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1915G>C	p.Gly639Arg	p.G639R	ENST00000296585	15/30	435	357	78	386	386	0	strelka-varscan-mutect	ITGA2,missense_variant,p.Gly639Arg,ENST00000296585,NM_002203.3;ITGA2,missense_variant,p.Gly639Arg,ENST00000510722,;ITGA2,missense_variant,p.Gly639Arg,ENST00000509814,;ITGA2,3_prime_UTR_variant,,ENST00000503810,;ITGA2,3_prime_UTR_variant,,ENST00000509960,;ITGA2,3_prime_UTR_variant,,ENST00000513685,;	C	ENST00000296585	Transcript	missense_variant	2058/7869	1915/3546	639/1181	G/R	Ggt/Cgt		1		1	ITGA2	HGNC	HGNC:6137	protein_coding	YES	CCDS3957.1	ENSP00000296585	P17301		UPI0000169C36	NM_002203.3	deleterious(0)		15/30		PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF23,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318,Prints_domain:PR01185																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	53065949	53065949	G	C	1	0	0	0	0	1	0	0	0	7782	1348	47	4		4	ITGA2	5	53065949	Missense_Mutation	SNP	G	C3N-00175_TP	145526	53065949	128472310	459	10609											
FST	0	.	GRCh38	chr5	53482989	53482989	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggccggctgagcacctcgtgGaccgaggaggacgtgaatga	9	5	17	10	4	0	3	0	3	0	0	1	7	0	6	3	5	1	2	3	5	1	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.195G>A	p.Trp65Ter	p.W65*	ENST00000256759	2/6	150	132	18	175	175	0	strelka-varscan-mutect	FST,stop_gained,p.Trp65Ter,ENST00000396947,NM_006350.3;FST,stop_gained,p.Trp65Ter,ENST00000256759,NM_013409.2;FST,upstream_gene_variant,,ENST00000497789,;FST,upstream_gene_variant,,ENST00000504226,;FST,non_coding_transcript_exon_variant,,ENST00000491717,;	A	ENST00000256759	Transcript	stop_gained	578/2519	195/1035	65/344	W/*	tgG/tgA		1		1	FST	HGNC	HGNC:3971	protein_coding	YES	CCDS3959.1	ENSP00000256759	P19883	A0A024QZU6	UPI000012AC56	NM_013409.2			2/6		PROSITE_profiles:PS51364,hmmpanther:PTHR10913:SF6,hmmpanther:PTHR10913,Superfamily_domains:SSF57581																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	53482989	53482989	G	A	1	0	0	0	0	0	1	0	0	5950	1183	41	3		3	FST	5	53482989	Nonsense_Mutation	SNP	G	C3N-00175_TP	417040	53482989	128055270	460	10610											
FST	0	.	GRCh38	chr5	53484145	53484145	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataatgcctactgtgtgacCtgtaatcggatttgcccaga	11	12	9	9	1	0	2	0	1	0	1	1	3	0	3	3	1	3	1	3	1	4	4	rs755377992		C3N-00175_TP	C3N-00175_NB	C	C																c.573C>A	p.=	p.T191T	ENST00000256759	4/6	315	250	65	324	323	1	strelka-varscan-mutect	FST,synonymous_variant,p.=,ENST00000396947,NM_006350.3;FST,synonymous_variant,p.=,ENST00000256759,NM_013409.2;FST,synonymous_variant,p.=,ENST00000504226,;FST,upstream_gene_variant,,ENST00000497789,;FST,downstream_gene_variant,,ENST00000491717,;	A	ENST00000256759	Transcript	synonymous_variant	956/2519	573/1035	191/344	T	acC/acA	rs755377992	1		1	FST	HGNC	HGNC:3971	protein_coding	YES	CCDS3959.1	ENSP00000256759	P19883	A0A024QZU6	UPI000012AC56	NM_013409.2			4/6		PROSITE_profiles:PS51465,hmmpanther:PTHR10913:SF6,hmmpanther:PTHR10913,Gene3D:3.30.60.30,SMART_domains:SM00280,Superfamily_domains:SSF100895																	LOW	1	SNV	1			1										PASS		rs755377992	.												A	2	1	39	53484145	53484145	C	A	1	0	0	0	0	0	0	0	1	5950	668	24	2		2	FST	5	53484145	Silent	SNP	C	C3N-00175_TP	1156	53484145	128054114	461	10611											
ADAMTS6	0	.	GRCh38	chr5	65224926	65224926	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctctctacatactcacctCccctgggcagtgaatcattg	8	13	6	14	0	4	1	2	1	2	0	6	1	5	1	3	1	2	1	3	1	3	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2189G>T	p.Gly730Val	p.G730V	ENST00000381055	17/25	94	73	21	75	75	0	strelka-varscan-mutect	ADAMTS6,missense_variant,p.Gly730Val,ENST00000381055,NM_197941.2;ADAMTS6,splice_region_variant,,ENST00000381052,;ADAMTS6,splice_region_variant,,ENST00000470597,;ADAMTS6,splice_region_variant,,ENST00000464680,;	A	ENST00000381055	Transcript	missense_variant,splice_region_variant	3046/7311	2189/3354	730/1117	G/V	gGa/gTa		1		-1	ADAMTS6	HGNC	HGNC:222	protein_coding	YES	CCDS3983.2	ENSP00000370443	Q9UKP5		UPI000050D3F1	NM_197941.2	deleterious(0.01)		17/25		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF27,Pfam_domain:PF05986																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	65224926	65224926	C	A	1	0	0	0	0	1	0	0	0	314	869	30	2		2	ADAMTS6	5	65224926	Missense_Mutation	SNP	C	C3N-00175_TP	11740781	65224926	116313333	462	10612											
ADAMTS6	0	.	GRCh38	chr5	65460183	65460183	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactcacccgaaaccccacaAtgagagtgatcatacagatg	15	6	7	13	1	2	3	2	2	0	2	2	5	2	3	3	0	2	0	3	0	3	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.618T>C	p.=	p.H206H	ENST00000381055	4/25	117	82	35	119	119	0	strelka-varscan-mutect	ADAMTS6,synonymous_variant,p.=,ENST00000381055,NM_197941.2;ADAMTS6,synonymous_variant,p.=,ENST00000381052,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000470597,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000464680,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000502886,;	G	ENST00000381055	Transcript	synonymous_variant	1475/7311	618/3354	206/1117	H	caT/caC		1		-1	ADAMTS6	HGNC	HGNC:222	protein_coding	YES	CCDS3983.2	ENSP00000370443	Q9UKP5		UPI000050D3F1	NM_197941.2			4/25		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF27																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	39	65460183	65460183	A	G	1	0	0	0	0	0	0	0	1	314	98	4	5		5	ADAMTS6	5	65460183	Silent	SNP	A	C3N-00175_TP	235257	65460183	116078076	463	10613											
TNPO1	0	.	GRCh38	chr5	72882495	72882495	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttagtgaatggcatgAagtactcagacatagatatt	13	13	10	5	0	1	4	1	2	0	2	1	4	1	4	0	1	1	3	0	1	6	5	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.949A>T	p.Lys317Ter	p.K317*	ENST00000337273	10/25	49	37	12	98	98	0	strelka-varscan-mutect	TNPO1,stop_gained,p.Lys317Ter,ENST00000337273,NM_002270.3;TNPO1,stop_gained,p.Lys309Ter,ENST00000506351,NM_153188.2;TNPO1,stop_gained,p.Lys267Ter,ENST00000523768,;MIR4804,downstream_gene_variant,,ENST00000581683,;TNPO1,non_coding_transcript_exon_variant,,ENST00000508762,;TNPO1,non_coding_transcript_exon_variant,,ENST00000505082,;TNPO1,3_prime_UTR_variant,,ENST00000520850,;CTD-2339M3.1,upstream_gene_variant,,ENST00000497334,;	T	ENST00000337273	Transcript	stop_gained	1375/11183	949/2697	317/898	K/*	Aag/Tag		1		1	TNPO1	HGNC	HGNC:6401	protein_coding	YES	CCDS43329.1	ENSP00000336712	Q92973	A0A024RAM0	UPI000020CAB6	NM_002270.3			10/25		hmmpanther:PTHR10527,hmmpanther:PTHR10527:SF21,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	39	72882495	72882495	A	T	1	0	0	0	0	0	1	0	0	16808	247	9	4		4	TNPO1	5	72882495	Nonsense_Mutation	SNP	A	C3N-00175_TP	7422312	72882495	108655764	464	10614											
TMEM171	0	.	GRCh38	chr5	73123610	73123610	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgtgatcctggcccgctcCcgggcgcaacttcagctccg	4	8	12	17	4	1	1	1	1	0	0	4	1	4	1	4	2	2	4	4	2	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.237C>T	p.=	p.S79S	ENST00000454765	2/4	165	145	20	151	151	0	strelka-varscan-mutect	TMEM171,synonymous_variant,p.=,ENST00000454765,NM_173490.7;TMEM171,synonymous_variant,p.=,ENST00000287773,NM_001161342.2;	T	ENST00000454765	Transcript	synonymous_variant	710/1535	237/975	79/324	S	tcC/tcT		1		1	TMEM171	HGNC	HGNC:27031	protein_coding	YES	CCDS4017.1	ENSP00000415030	Q8WVE6		UPI000020CAC5	NM_173490.7			2/4		Low_complexity_(Seg):seg,hmmpanther:PTHR31617:SF0,hmmpanther:PTHR31617,Pfam_domain:PF15471																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	73123610	73123610	C	T	1	0	0	0	0	0	0	0	1	16532	610	22	3		3	TMEM171	5	73123610	Silent	SNP	C	C3N-00175_TP	241115	73123610	108414649	465	10615											
AP3B1	0	.	GRCh38	chr5	78003009	78003009	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccttccttcagttccaCtgtgactagcatcaatgacc	10	11	7	13	0	2	3	2	2	0	1	4	3	4	3	4	0	2	2	4	0	2	4	rs753428510		C3N-00175_TP	C3N-00175_NB	C	C																c.3178G>T	p.Val1060Leu	p.V1060L	ENST00000255194	27/27	323	287	36	376	376	0	strelka-varscan-mutect	AP3B1,missense_variant,p.Val1060Leu,ENST00000255194,NM_003664.4;AP3B1,missense_variant,p.Val1011Leu,ENST00000519295,NM_001271769.1;AP3B1,3_prime_UTR_variant,,ENST00000522901,;AP3B1,non_coding_transcript_exon_variant,,ENST00000520122,;	A	ENST00000255194	Transcript	missense_variant	3354/5838	3178/3285	1060/1094	V/L	Gtg/Ttg	rs753428510	1		-1	AP3B1	HGNC	HGNC:566	protein_coding	YES	CCDS4041.1	ENSP00000255194	O00203	A0A0S2Z5J4	UPI00001AE77D	NM_003664.4	tolerated(0.7)		27/27		PIRSF_domain:PIRSF037096,SMART_domains:SM01020																	MODERATE	1	SNV	1			1										PASS		rs753428510	.												A	3	1	39	78003009	78003009	C	A	1	0	0	0	0	1	0	0	0	860	565	20	2		2	AP3B1	5	78003009	Missense_Mutation	SNP	C	C3N-00175_TP	4879399	78003009	103535250	466	10616											
HOMER1	0	.	GRCh38	chr5	79402034	79402034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggtagccagttcagcctcCcaatgtttgctgattgctga	8	12	11	10	0	1	2	1	2	0	0	2	2	2	2	3	1	4	5	3	1	2	4			C3N-00175_TP	C3N-00175_NB	C	C																c.549G>C	p.Trp183Cys	p.W183C	ENST00000334082	6/9	153	119	34	149	148	1	strelka-varscan-mutect	HOMER1,missense_variant,p.Trp183Cys,ENST00000334082,NM_004272.4;HOMER1,missense_variant,p.Trp9Cys,ENST00000535690,;HOMER1,intron_variant,,ENST00000508576,NM_001277078.1;HOMER1,intron_variant,,ENST00000282260,NM_001277077.1;HOMER1,upstream_gene_variant,,ENST00000460741,;	G	ENST00000334082	Transcript	missense_variant	1992/5881	549/1065	183/354	W/C	tgG/tgC	COSM5403878	1		-1	HOMER1	HGNC	HGNC:17512	protein_coding	YES	CCDS43335.1	ENSP00000334382	Q86YM7		UPI000006D8F2	NM_004272.4	deleterious(0.02)		6/9		hmmpanther:PTHR10918,hmmpanther:PTHR10918:SF3											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	39	79402034	79402034	C	G	1	0	0	0	0	1	0	0	0	7172	624	22	4		4	HOMER1	5	79402034	Missense_Mutation	SNP	C	C3N-00175_TP	1399025	79402034	102136225	467	10617											
CMYA5	0	.	GRCh38	chr5	79729607	79729607	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatagtggttctaatacagTgtccaaaacacgcaaattag	16	10	7	8	1	1	0	0	0	1	0	2	0	2	0	1	1	2	2	1	1	8	5	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.842T>A	p.Val281Glu	p.V281E	ENST00000446378	2/13	125	96	29	142	142	0	strelka-varscan-mutect	CMYA5,missense_variant,p.Val281Glu,ENST00000446378,NM_153610.4;	A	ENST00000446378	Transcript	missense_variant	873/12847	842/12210	281/4069	V/E	gTg/gAg		1		1	CMYA5	HGNC	HGNC:14305	protein_coding	YES	CCDS47238.1	ENSP00000394770	Q8N3K9		UPI00004F9478	NM_153610.4	deleterious(0.01)		2/13		hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	79729607	79729607	T	A	1	0	0	0	0	1	0	0	0	3368	1696	59	4		4	CMYA5	5	79729607	Missense_Mutation	SNP	T	C3N-00175_TP	327573	79729607	101808652	468	10618											
FAM151B	0	.	GRCh38	chr5	80541734	80541734	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgaagatttactttacAttagagaccattttgacaaa	14	14	6	7	1	0	4	0	2	0	2	0	5	0	4	2	0	2	1	2	0	5	8	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.733A>T	p.Ile245Phe	p.I245F	ENST00000282226	6/6	152	120	32	315	315	0	strelka-varscan-mutect	FAM151B,missense_variant,p.Ile245Phe,ENST00000282226,NM_205548.2;FAM151B,non_coding_transcript_exon_variant,,ENST00000511718,;	T	ENST00000282226	Transcript	missense_variant	888/1717	733/831	245/276	I/F	Att/Ttt		1		1	FAM151B	HGNC	HGNC:33716	protein_coding	YES	CCDS4051.1	ENSP00000282226	Q6UXP7		UPI000022C849	NM_205548.2	deleterious(0.03)		6/6		hmmpanther:PTHR21184:SF3,hmmpanther:PTHR21184,Pfam_domain:PF10223																	MODERATE	1	SNV	1			1										PASS		rs940450147	.												T	3	4	39	80541734	80541734	A	T	1	0	0	0	0	1	0	0	0	5309	217	8	4		4	FAM151B	5	80541734	Missense_Mutation	SNP	A	C3N-00175_TP	812127	80541734	100996525	469	10619											
VCAN	0	.	GRCh38	chr5	83541926	83541926	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagaaggtgctacacagtggCcacactctacttctgcttct	9	12	8	12	0	3	1	0	0	3	1	3	1	3	1	1	2	4	2	1	2	4	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.8923C>A	p.Pro2975Thr	p.P2975T	ENST00000265077	8/15	166	126	40	143	143	0	strelka-varscan-mutect	VCAN,missense_variant,p.Pro2975Thr,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Pro1988Thr,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,intron_variant,,ENST00000513899,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	A	ENST00000265077	Transcript	missense_variant	9488/12625	8923/10191	2975/3396	P/T	Cca/Aca		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	tolerated(0.06)		8/15		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	83541926	83541926	C	A	1	0	0	0	0	1	0	0	0	17683	739	26	2		2	VCAN	5	83541926	Missense_Mutation	SNP	C	C3N-00175_TP	3000192	83541926	97996333	470	10620											
HAPLN1	0	.	GRCh38	chr5	83652825	83652825	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagatgggggccattttctgCtataattaaaaaggaaaaaa	17	11	9	4	0	1	1	0	0	1	1	1	2	1	2	1	3	1	1	1	3	9	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.101-1G>T		p.X34_splice	ENST00000274341		66	45	21	76	76	0	strelka-varscan-mutect	HAPLN1,splice_acceptor_variant,,ENST00000274341,NM_001884.3;HAPLN1,splice_acceptor_variant,,ENST00000514416,;HAPLN1,splice_acceptor_variant,,ENST00000510978,;HAPLN1,splice_acceptor_variant,,ENST00000504713,;HAPLN1,splice_acceptor_variant,,ENST00000508307,;HAPLN1,splice_acceptor_variant,,ENST00000515590,;HAPLN1,splice_region_variant,,ENST00000503117,;	A	ENST00000274341	Transcript	splice_acceptor_variant	-/5607	101/1065	34/354				1		-1	HAPLN1	HGNC	HGNC:2380	protein_coding	YES	CCDS4061.1	ENSP00000274341	P10915	A0A024RAK9	UPI0000131BFF	NM_001884.3				2/4																		HIGH	1	SNV	1			1										PASS		rs1168098415	.												A	5	1	39	83652825	83652825	C	A	1	0	0	0	0	0	0	1	0	6840	811	28	2		2	HAPLN1	5	83652825	Splice_Site	SNP	C	C3N-00175_TP	110899	83652825	97885434	471	10621											
ADGRV1	0	.	GRCh38	chr5	90711027	90711027	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attattgatgccaatgatggGgcccgaggtgtaattgaatg	11	12	13	5	1	0	3	0	3	0	0	0	4	0	3	2	3	1	1	2	3	4	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.8871G>T	p.=	p.G2957G	ENST00000405460	40/90	196	122	74	133	133	0	strelka-varscan-mutect	ADGRV1,synonymous_variant,p.=,ENST00000405460,NM_032119.3;ADGRV1,synonymous_variant,p.=,ENST00000509621,;	T	ENST00000405460	Transcript	synonymous_variant	8967/19338	8871/18921	2957/6306	G	ggG/ggT		1		1	ADGRV1	HGNC	HGNC:17416	protein_coding	YES	CCDS47246.1	ENSP00000384582	Q8WXG9		UPI00002127A7	NM_032119.3			40/90		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237,Superfamily_domains:SSF141072																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	90711027	90711027	G	T	1	0	0	0	0	0	0	0	1	379	1219	43	2		2	ADGRV1	5	90711027	Silent	SNP	G	C3N-00175_TP	7058202	90711027	90827232	472	10622											
PCSK1	0	.	GRCh38	chr5	96397404	96397404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgtgaacagacatgaagtCccaattcttaaagccattag	14	11	8	8	0	1	3	0	2	1	1	2	3	2	3	2	0	2	0	2	0	6	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1654G>A	p.Asp552Asn	p.D552N	ENST00000311106	12/14	356	316	40	324	324	0	strelka-varscan-mutect	PCSK1,missense_variant,p.Asp552Asn,ENST00000311106,NM_000439.4;PCSK1,missense_variant,p.Asp505Asn,ENST00000508626,NM_001177875.1;CTD-2337A12.1,intron_variant,,ENST00000502645,;PCSK1,non_coding_transcript_exon_variant,,ENST00000513085,;	T	ENST00000311106	Transcript	missense_variant	1892/5086	1654/2262	552/753	D/N	Gac/Aac		1		-1	PCSK1	HGNC	HGNC:8743	protein_coding	YES	CCDS4081.1	ENSP00000308024	P29120		UPI000013F0F5	NM_000439.4	tolerated(0.06)		12/14		hmmpanther:PTHR10795:SF407,hmmpanther:PTHR10795,Gene3D:2.60.120.260,Pfam_domain:PF01483,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	96397404	96397404	C	T	1	0	0	0	0	1	0	0	0	11688	855	30	3		3	PCSK1	5	96397404	Missense_Mutation	SNP	C	C3N-00175_TP	5686377	96397404	85140855	473	10623											
LNPEP	0	.	GRCh38	chr5	97003490	97003490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctgttgtcctttacctgCataatcacagctatgcatct	9	15	6	11	0	2	0	1	0	1	0	3	0	3	0	2	0	5	5	2	0	3	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1729C>T	p.His577Tyr	p.H577Y	ENST00000231368	9/18	93	81	12	105	105	0	strelka-varscan-mutect	LNPEP,missense_variant,p.His577Tyr,ENST00000231368,NM_005575.2;LNPEP,missense_variant,p.His563Tyr,ENST00000395770,NM_175920.3;LNPEP,non_coding_transcript_exon_variant,,ENST00000473914,;	T	ENST00000231368	Transcript	missense_variant	2421/12752	1729/3078	577/1025	H/Y	Cat/Tat		1		1	LNPEP	HGNC	HGNC:6656	protein_coding	YES	CCDS4087.1	ENSP00000231368	Q9UIQ6		UPI000013C94B	NM_005575.2	deleterious(0.04)		9/18		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF42,Gene3D:1.10.390.10,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	97003490	97003490	C	T	1	0	0	0	0	1	0	0	0	8791	710	25	3		3	LNPEP	5	97003490	Missense_Mutation	SNP	C	C3N-00175_TP	606086	97003490	84534769	474	10624											
SLCO4C1	0	.	GRCh38	chr5	102270679	102270679	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaagaaaggctgttccCagagtataaagaggagttcc	14	9	10	8	0	2	3	2	0	0	3	4	4	4	4	2	2	0	4	2	2	5	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.747G>T	p.=	p.L249L	ENST00000310954	3/13	196	161	35	154	153	1	strelka-varscan-mutect	SLCO4C1,synonymous_variant,p.=,ENST00000310954,NM_180991.4;	A	ENST00000310954	Transcript	synonymous_variant	1034/5334	747/2175	249/724	L	ctG/ctT		1		-1	SLCO4C1	HGNC	HGNC:23612	protein_coding	YES	CCDS34205.1	ENSP00000309741	Q6ZQN7		UPI00001C10B6	NM_180991.4			3/13		Gene3D:1.20.1250.20,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF103,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs1173813120	.												A	2	1	39	102270679	102270679	C	A	1	0	0	0	0	0	0	0	1	15017	581	21	2		2	SLCO4C1	5	102270679	Silent	SNP	C	C3N-00175_TP	5267189	102270679	79267580	475	10625											
EFNA5	0	.	GRCh38	chr5	107381376	107381376	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactcatgtacggtgtcaTctgttcaaatagaaagcaca	13	11	8	9	1	4	2	3	1	1	1	4	2	4	2	0	1	2	3	0	1	4	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.566A>G	p.Asp189Gly	p.D189G	ENST00000333274	5/5	60	44	16	75	75	0	strelka-varscan-mutect	EFNA5,missense_variant,p.Asp189Gly,ENST00000333274,NM_001962.2;EFNA5,missense_variant,p.Asp149Gly,ENST00000611503,;EFNA5,missense_variant,p.Asn162Ser,ENST00000509503,;EFNA5,splice_region_variant,,ENST00000510359,;	C	ENST00000333274	Transcript	missense_variant,splice_region_variant	848/5335	566/687	189/228	D/G	gAt/gGt		1		-1	EFNA5	HGNC	HGNC:3225	protein_coding	YES	CCDS4097.1	ENSP00000328777	P52803		UPI0000129C93	NM_001962.2	deleterious(0.01)		5/5		hmmpanther:PTHR11304,hmmpanther:PTHR11304:SF33																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	107381376	107381376	T	C	1	0	0	0	0	1	0	0	0	4790	1449	50	5		5	EFNA5	5	107381376	Missense_Mutation	SNP	T	C3N-00175_TP	5110697	107381376	74156883	476	10626											
FER	0	.	GRCh38	chr5	108867827	108867827	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgaaacttcatatgtTgcacaatcagtatgtattgg	14	13	7	7	0	2	1	2	1	0	0	2	1	2	1	0	1	2	4	0	1	6	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.542T>C	p.Leu181Ser	p.L181S	ENST00000281092	6/20	357	311	46	364	364	0	strelka-varscan-mutect	FER,missense_variant,p.Leu181Ser,ENST00000281092,NM_001308028.1,NM_005246.2;FER,3_prime_UTR_variant,,ENST00000504143,;	C	ENST00000281092	Transcript	missense_variant	926/12119	542/2469	181/822	L/S	tTg/tCg		1		1	FER	HGNC	HGNC:3655	protein_coding	YES	CCDS4098.1	ENSP00000281092	P16591	W0S0X4	UPI000013DC55	NM_001308028.1,NM_005246.2	tolerated(0.05)		6/20		PIRSF_domain:PIRSF000632,PROSITE_profiles:PS51741,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF227,Superfamily_domains:SSF103657																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	108867827	108867827	T	C	1	0	0	0	0	1	0	0	0	5676	1821	63	5		5	FER	5	108867827	Missense_Mutation	SNP	T	C3N-00175_TP	1486451	108867827	72670432	477	10627											
TSSK1B	0	.	GRCh38	chr5	113434407	113434407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatgttgaagtccttgtCaaggagaaggttgtcacact	10	13	11	7	0	2	3	2	2	0	1	3	4	3	3	1	2	0	2	1	2	3	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.433G>T	p.Asp145Tyr	p.D145Y	ENST00000390666	1/1	95	69	26	101	101	0	strelka-varscan-mutect	TSSK1B,missense_variant,p.Asp145Tyr,ENST00000390666,NM_032028.3;MCC,intron_variant,,ENST00000408903,NM_001085377.1;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000416046,;CTD-2201G3.1,upstream_gene_variant,,ENST00000510381,;	A	ENST00000390666	Transcript	missense_variant	625/2478	433/1104	145/367	D/Y	Gac/Tac		1		-1	TSSK1B	HGNC	HGNC:14968	protein_coding	YES	CCDS4112.1	ENSP00000375081	Q9BXA7	A0ZT98	UPI000003C96E	NM_032028.3	deleterious(0)		1/1		Low_complexity_(Seg):seg,PROSITE_profiles:PS50011,hmmpanther:PTHR24343:SF76,hmmpanther:PTHR24343,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE		SNV				1										PASS		.	.												A	3	1	39	113434407	113434407	C	A	1	0	0	0	0	1	0	0	0	17176	826	29	2		2	TSSK1B	5	113434407	Missense_Mutation	SNP	C	C3N-00175_TP	4566580	113434407	68103852	478	10628											
HSD17B4	0	.	GRCh38	chr5	119506817	119506817	+	Splice_Site	DEL	G	G	-																															ttcttttacttttctttctaGgaaaattaaaatgtgaagca																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1337delG	p.Gly446GlufsTer3	p.X446_splice	ENST00000504811		104	93	11	174	174	0	sindel-varindel-pindel	HSD17B4,splice_acceptor_variant,p.Gly446GlufsTer3,ENST00000504811,NM_001199291.2;HSD17B4,splice_acceptor_variant,p.Gly421GlufsTer3,ENST00000256216,NM_000414.3;HSD17B4,splice_acceptor_variant,p.Gly397GlufsTer3,ENST00000510025,NM_001292027.1;HSD17B4,splice_acceptor_variant,p.Gly281GlufsTer3,ENST00000414835,NM_001292028.1;HSD17B4,splice_acceptor_variant,p.Gly403GlufsTer3,ENST00000515320,NM_001199292.1;HSD17B4,splice_acceptor_variant,p.Gly159GlufsTer3,ENST00000509514,;HSD17B4,splice_acceptor_variant,p.Gly284GlufsTer3,ENST00000513628,;HSD17B4,splice_acceptor_variant,,ENST00000518349,;HSD17B4,splice_acceptor_variant,,ENST00000520244,;HSD17B4,upstream_gene_variant,,ENST00000522415,;HSD17B4,downstream_gene_variant,,ENST00000520216,;HSD17B4,splice_acceptor_variant,,ENST00000515235,;HSD17B4,splice_acceptor_variant,p.Gly421GlufsTer3,ENST00000442060,;	-	ENST00000504811	Transcript	splice_acceptor_variant	-/2740	1337/2286	446/761				1		1	HSD17B4	HGNC	HGNC:5213	protein_coding	YES	CCDS56379.1	ENSP00000420914	P51659		UPI0001AE7403	NM_001199291.2				15/24																		HIGH	1	deletion	2	1		1										PASS		.	.												-	8	5	39	119506817	119506817	G	-	1	0	1	0	1	0	0	1	0	7281	1014	35	0		0	HSD17B4	5	119506817	Splice_Site	DEL	G	C3N-00175_TP	6072410	119506817	62031442	479	10629											
PRR16	0	.	GRCh38	chr5	120686705	120686705	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcaaccactacaaccgTgtgatgtatgccattaaaaa	16	9	7	9	1	1	1	1	1	0	0	1	2	1	1	3	0	4	1	3	0	8	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.911T>A	p.Val304Glu	p.V304E	ENST00000407149	2/2	16	10	6	14	14	0	strelka-varscan-mutect	PRR16,missense_variant,p.Val281Glu,ENST00000379551,NM_016644.2;PRR16,missense_variant,p.Val304Glu,ENST00000407149,NM_001300783.1;PRR16,missense_variant,p.Val234Glu,ENST00000505123,NM_001308087.1;PRR16,missense_variant,p.Val251Glu,ENST00000446965,;PRR16,downstream_gene_variant,,ENST00000509923,;	A	ENST00000407149	Transcript	missense_variant	1120/1747	911/915	304/304	V/E	gTg/gAg		1		1	PRR16	HGNC	HGNC:29654	protein_coding	YES	CCDS75290.1	ENSP00000385118	Q569H4		UPI00004F9C36	NM_001300783.1	deleterious(0)		2/2		Pfam_domain:PF15252,hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	120686705	120686705	T	A	1	0	0	0	0	1	0	0	0	12725	1696	59	4		4	PRR16	5	120686705	Missense_Mutation	SNP	T	C3N-00175_TP	1179888	120686705	60851554	480	10630											
FBN2	0	.	GRCh38	chr5	128286817	128286817	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatgcccctagattcacAgtcgtgtaacccttcagcac	10	10	6	15	1	3	1	3	0	0	1	4	1	3	1	3	0	3	2	3	0	2	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.6913T>C	p.Cys2305Arg	p.C2305R	ENST00000508053	61/71	404	350	54	458	458	0	strelka-varscan-mutect	FBN2,missense_variant,p.Cys2305Arg,ENST00000508053,;FBN2,missense_variant,p.Cys2305Arg,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Cys2304Arg,ENST00000619499,;	G	ENST00000508053	Transcript	missense_variant	7888/11132	6913/8739	2305/2912	C/R	Tgt/Cgt		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		deleterious(0)		61/71		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	39	128286817	128286817	A	G	1	0	0	0	0	1	0	0	0	5566	188	7	5		5	FBN2	5	128286817	Missense_Mutation	SNP	A	C3N-00175_TP	7600112	128286817	53251442	481	10631											
PDLIM4	0	.	GRCh38	chr5	132266497	132266497	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcccagtgcccctgaTgacagcaaggctcaggcaca	10	5	12	14	0	1	2	1	2	0	0	1	2	1	2	3	3	3	4	3	3	1	0	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.279T>C	p.=	p.D93D	ENST00000253754	3/7	94	86	8	141	141	0	strelka-varscan-mutect	PDLIM4,synonymous_variant,p.=,ENST00000253754,NM_003687.3;PDLIM4,synonymous_variant,p.=,ENST00000379018,NM_001131027.1;PDLIM4,synonymous_variant,p.=,ENST00000418373,;P4HA2,intron_variant,,ENST00000439698,;P4HA2,intron_variant,,ENST00000431054,;P4HA2,intron_variant,,ENST00000416053,;P4HA2,intron_variant,,ENST00000471826,;PDLIM4,upstream_gene_variant,,ENST00000484620,;PDLIM4,non_coding_transcript_exon_variant,,ENST00000463615,;PDLIM4,intron_variant,,ENST00000474421,;PDLIM4,upstream_gene_variant,,ENST00000462597,;	C	ENST00000253754	Transcript	synonymous_variant	343/2282	279/993	93/330	D	gaT/gaC		1		1	PDLIM4	HGNC	HGNC:16501	protein_coding	YES	CCDS4152.1	ENSP00000253754	P50479		UPI00001338F6	NM_003687.3			3/7		hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF6																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	39	132266497	132266497	T	C	1	0	0	0	0	0	0	0	1	11770	1461	51	5		5	PDLIM4	5	132266497	Silent	SNP	T	C3N-00175_TP	3979680	132266497	49271762	482	10632											
TIFAB	0	.	GRCh38	chr5	135449647	135449647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctgttgacggtgctcaggGggacctgctccaggtacctc	5	9	13	14	1	1	1	1	1	0	0	3	2	2	2	4	4	3	4	4	4	1	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.293C>A	p.Pro98His	p.P98H	ENST00000537858	2/2	466	321	145	499	497	2	strelka-varscan-mutect	TIFAB,missense_variant,p.Pro98His,ENST00000537858,NM_001099221.1;DCANP1,upstream_gene_variant,,ENST00000503143,NM_130848.2;CTB-138E5.1,upstream_gene_variant,,ENST00000510230,;	T	ENST00000537858	Transcript	missense_variant	494/5923	293/486	98/161	P/H	cCc/cAc		1		-1	TIFAB	HGNC	HGNC:34024	protein_coding	YES	CCDS43365.1	ENSP00000440509	Q6ZNK6		UPI0000603404	NM_001099221.1	deleterious(0.01)		2/2		hmmpanther:PTHR31266,hmmpanther:PTHR31266:SF3,Gene3D:2.60.200.20,Pfam_domain:PF00498,Superfamily_domains:SSF49879																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	135449647	135449647	G	T	1	0	0	0	0	1	0	0	0	16331	1232	43	2		2	TIFAB	5	135449647	Missense_Mutation	SNP	G	C3N-00175_TP	3183150	135449647	46088612	483	10633											
MYOT	0	.	GRCh38	chr5	137883567	137883567	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagagcaggagaagccaccTtcactgtgcagctggatgtc	11	8	12	10	0	1	2	1	0	0	2	2	4	1	3	2	2	4	3	2	2	2	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1000T>A	p.Phe334Ile	p.F334I	ENST00000239926	7/10	281	190	91	310	310	0	strelka-varscan-mutect	MYOT,missense_variant,p.Phe334Ile,ENST00000239926,NM_006790.2;MYOT,missense_variant,p.Phe219Ile,ENST00000515645,NM_001300911.1;MYOT,missense_variant,p.Phe150Ile,ENST00000421631,NM_001135940.1;PKD2L2,upstream_gene_variant,,ENST00000503015,;RP11-381K20.2,non_coding_transcript_exon_variant,,ENST00000508281,;RP11-381K20.2,intron_variant,,ENST00000514616,;MYOT,intron_variant,,ENST00000509812,;MYOT,non_coding_transcript_exon_variant,,ENST00000503748,;MYOT,non_coding_transcript_exon_variant,,ENST00000511254,;MYOT,upstream_gene_variant,,ENST00000508938,;	A	ENST00000239926	Transcript	missense_variant	1374/2337	1000/1497	334/498	F/I	Ttc/Atc		1		1	MYOT	HGNC	HGNC:12399	protein_coding	YES	CCDS4194.1	ENSP00000239926		A0A0C4DFM5	UPI0000073E86	NM_006790.2	deleterious(0)		7/10		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF595,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	137883567	137883567	T	A	1	0	0	0	0	1	0	0	0	10095	1609	56	4		4	MYOT	5	137883567	Missense_Mutation	SNP	T	C3N-00175_TP	2433920	137883567	43654692	484	10634											
EGR1	0	.	GRCh38	chr5	138466982	138466982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcagcaccatctccagCggcctcctccgcctccgcct	4	8	7	22	3	2	0	1	0	1	0	7	0	6	0	9	1	2	1	9	1	0	0	rs202015917		C3N-00175_TP	C3N-00175_NB	C	C																c.533C>A	p.Ala178Glu	p.A178E	ENST00000239938	2/2	103	72	31	139	139	0	strelka-varscan-mutect	EGR1,missense_variant,p.Ala178Glu,ENST00000239938,NM_001964.2;	A	ENST00000239938	Transcript	missense_variant	805/3138	533/1632	178/543	A/E	gCg/gAg	rs202015917,COSM5548908	1		1	EGR1	HGNC	HGNC:3238	protein_coding	YES	CCDS4206.1	ENSP00000239938	P18146	Q546S1	UPI00000008CD	NM_001964.2	deleterious(0.05)		2/2		Pfam_domain:PF11928,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs202015917	.												A	3	1	39	138466982	138466982	C	A	1	0	0	0	0	1	0	0	0	4807	768	27	1		1	EGR1	5	138466982	Missense_Mutation	SNP	C	C3N-00175_TP	583415	138466982	43071277	485	10635											
ANKHD1	0	.	GRCh38	chr5	140459193	140459193	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaatgcccagacagaagaaActcaagaaactgctcttact	17	8	6	10	0	2	4	1	0	1	4	2	4	2	4	1	0	5	1	1	0	7	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1510A>T	p.Thr504Ser	p.T504S	ENST00000532219	9/36	120	106	14	124	124	0	strelka-varscan-mutect	ANKHD1-EIF4EBP3,missense_variant,p.Thr504Ser,ENST00000532219,NM_020690.5;ANKHD1,missense_variant,p.Thr504Ser,ENST00000360839,NM_017747.2;ANKHD1,missense_variant,p.Thr504Ser,ENST00000421134,;ANKHD1,missense_variant,p.Thr504Ser,ENST00000394723,NM_024668.3;ANKHD1,missense_variant,p.Thr504Ser,ENST00000616482,NM_001197030.1;ANKHD1,missense_variant,p.Thr493Ser,ENST00000394722,NM_017978.2;ANKHD1,5_prime_UTR_variant,,ENST00000297183,;ANKHD1,upstream_gene_variant,,ENST00000246149,;ANKHD1,non_coding_transcript_exon_variant,,ENST00000490185,;	T	ENST00000532219	Transcript	missense_variant	1570/8246	1510/7854	504/2617	T/S	Act/Tct		1		1	ANKHD1-EIF4EBP3	HGNC	HGNC:33530	protein_coding	YES	CCDS4224.1	ENSP00000432016			UPI0000074448	NM_020690.5	tolerated(0.06)		9/36		Low_complexity_(Seg):seg,PROSITE_profiles:PS50297,hmmpanther:PTHR23206:SF5,hmmpanther:PTHR23206,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE		SNV	2			1										PASS		rs1336433967	.												T	3	4	39	140459193	140459193	A	T	1	0	0	0	0	1	0	0	0	730	43	2	4		4	ANKHD1	5	140459193	Missense_Mutation	SNP	A	C3N-00175_TP	1992211	140459193	41079066	486	10636											
PCDHA1	0	.	GRCh38	chr5	140788080	140788080	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcgaaggtgcgcgcagTggacgccgactcgggctaca	7	5	18	11	6	0	0	0	0	0	0	1	3	0	1	1	5	2	2	1	5	2	1	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1790T>A	p.Val597Glu	p.V597E	ENST00000504120	1/4	468	333	135	499	499	0	strelka-varscan-mutect	PCDHA1,missense_variant,p.Val597Glu,ENST00000504120,NM_018900.3;PCDHA1,missense_variant,p.Val597Glu,ENST00000378133,NM_031410.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,downstream_gene_variant,,ENST00000624712,;AC005609.16,downstream_gene_variant,,ENST00000624176,;	A	ENST00000504120	Transcript	missense_variant	1790/5263	1790/2853	597/950	V/E	gTg/gAg		1		1	PCDHA1	HGNC	HGNC:8663	protein_coding	YES	CCDS54913.1	ENSP00000420840	Q9Y5I3		UPI00001273C7	NM_018900.3	deleterious_low_confidence(0)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	140788080	140788080	T	A	1	0	0	0	0	1	0	0	0	11606	1696	59	4		4	PCDHA1	5	140788080	Missense_Mutation	SNP	T	C3N-00175_TP	328887	140788080	40750179	487	10637											
PCDHA3	0	.	GRCh38	chr5	140801992	140801992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctagtggtgaccgttaaCgccaccgatttggatgaagg	10	9	12	10	3	0	2	0	2	0	0	0	4	0	3	4	3	1	1	4	3	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.795C>T	p.=	p.N265N	ENST00000522353	1/4	221	190	31	242	242	0	strelka-varscan-mutect	PCDHA3,synonymous_variant,p.=,ENST00000522353,NM_018906.2;PCDHA3,synonymous_variant,p.=,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA2,downstream_gene_variant,,ENST00000378132,NM_031495.1;PCDHA4,upstream_gene_variant,,ENST00000378125,;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,upstream_gene_variant,,ENST00000624176,;	T	ENST00000522353	Transcript	synonymous_variant	795/5260	795/2853	265/950	N	aaC/aaT		1		1	PCDHA3	HGNC	HGNC:8669	protein_coding	YES	CCDS54915.1	ENSP00000429808	Q9Y5H8		UPI00001273CB	NM_018906.2			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	140801992	140801992	C	T	1	0	0	0	0	0	0	0	1	11612	535	19	1		1	PCDHA3	5	140801992	Silent	SNP	C	C3N-00175_TP	13912	140801992	40736267	488	10638											
PCDHA3	0	.	GRCh38	chr5	140802120	140802120	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcagtgtaaagggtaacaTagatttcgaggaaagtaagt	17	10	11	3	1	1	1	1	0	0	1	2	3	1	2	0	2	1	3	0	2	7	5	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.923T>A	p.Ile308Lys	p.I308K	ENST00000522353	1/4	194	131	63	197	196	1	strelka-varscan-mutect	PCDHA3,missense_variant,p.Ile308Lys,ENST00000522353,NM_018906.2;PCDHA3,missense_variant,p.Ile308Lys,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA4,upstream_gene_variant,,ENST00000618834,NM_031500.2;PCDHA4,upstream_gene_variant,,ENST00000512229,;PCDHA2,downstream_gene_variant,,ENST00000378132,NM_031495.1;PCDHA4,upstream_gene_variant,,ENST00000378125,;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,upstream_gene_variant,,ENST00000624176,;	A	ENST00000522353	Transcript	missense_variant	923/5260	923/2853	308/950	I/K	aTa/aAa		1		1	PCDHA3	HGNC	HGNC:8669	protein_coding	YES	CCDS54915.1	ENSP00000429808	Q9Y5H8		UPI00001273CB	NM_018906.2	deleterious_low_confidence(0.01)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs924147913	.												A	3	1	39	140802120	140802120	T	A	1	0	0	0	0	1	0	0	0	11612	1406	49	4		4	PCDHA3	5	140802120	Missense_Mutation	SNP	T	C3N-00175_TP	128	140802120	40736139	489	10639											
PCDHA5	0	.	GRCh38	chr5	140822297	140822297	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatacaggttaaatccaaaCgaatattttgacttagatgt	16	13	7	5	1	0	3	0	1	0	2	1	4	1	3	1	1	2	1	1	1	7	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.522C>G	p.Asn174Lys	p.N174K	ENST00000529859	1/4	197	171	26	233	233	0	strelka-varscan-mutect	PCDHA5,missense_variant,p.Asn174Lys,ENST00000529859,NM_018908.2;PCDHA5,missense_variant,p.Asn174Lys,ENST00000614258,NM_031501.1;PCDHA5,missense_variant,p.Asn174Lys,ENST00000529619,;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA4,intron_variant,,ENST00000512229,;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA4,downstream_gene_variant,,ENST00000618834,NM_031500.2;AC005609.16,upstream_gene_variant,,ENST00000624712,;	G	ENST00000529859	Transcript	missense_variant	522/5218	522/2811	174/936	N/K	aaC/aaG		1		1	PCDHA5	HGNC	HGNC:8671	protein_coding	YES	CCDS54917.1	ENSP00000436557	Q9Y5H7		UPI00001273CD	NM_018908.2	deleterious_low_confidence(0.04)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	140822297	140822297	C	G	1	0	0	0	0	1	0	0	0	11614	535	19	4		4	PCDHA5	5	140822297	Missense_Mutation	SNP	C	C3N-00175_TP	20177	140822297	40715962	490	10640											
PCDHA7	0	.	GRCh38	chr5	140836256	140836256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgagcatcccgttccgcgtgGggctgtacactggtgagatc	6	9	14	12	4	0	1	0	1	0	1	3	3	2	1	2	3	2	4	2	3	1	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1873G>T	p.Gly625Trp	p.G625W	ENST00000525929	1/4	363	274	89	445	445	0	strelka-varscan-mutect	PCDHA7,missense_variant,p.Gly625Trp,ENST00000525929,NM_018910.2;PCDHA7,missense_variant,p.Gly625Trp,ENST00000356878,NM_031852.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA8,upstream_gene_variant,,ENST00000378123,NM_031856.1;	T	ENST00000525929	Transcript	missense_variant	1873/5221	1873/2814	625/937	G/W	Ggg/Tgg		1		1	PCDHA7	HGNC	HGNC:8673	protein_coding	YES	CCDS54918.1	ENSP00000436426	Q9UN72		UPI00001273CF	NM_018910.2	deleterious_low_confidence(0)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	140836256	140836256	G	T	1	0	0	0	0	1	0	0	0	11616	1232	43	2		2	PCDHA7	5	140836256	Missense_Mutation	SNP	G	C3N-00175_TP	13959	140836256	40702003	491	10641											
PCDHB1	0	.	GRCh38	chr5	141053597	141053597	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctctctgtcatagtgatCttcattatacatgtctacca	9	16	4	12	0	5	1	2	1	3	0	7	1	6	1	2	0	2	0	2	0	4	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2127C>G	p.Ile709Met	p.I709M	ENST00000306549	1/1	109	74	35	137	137	0	strelka-varscan-mutect	PCDHB1,missense_variant,p.Ile709Met,ENST00000306549,NM_013340.3;CTC-270D5.1,intron_variant,,ENST00000624139,;CTC-270D5.1,intron_variant,,ENST00000624778,;CTC-270D5.1,intron_variant,,ENST00000623741,;CTC-270D5.1,downstream_gene_variant,,ENST00000623109,;	G	ENST00000306549	Transcript	missense_variant	2463/8210	2127/2457	709/818	I/M	atC/atG		1		1	PCDHB1	HGNC	HGNC:8680	protein_coding	YES	CCDS4243.1	ENSP00000307234	Q9Y5F3		UPI000013EB56	NM_013340.3	deleterious(0)		1/1		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF12,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												G	3	3	39	141053597	141053597	C	G	1	0	0	0	0	1	0	0	0	11621	903	32	4		4	PCDHB1	5	141053597	Missense_Mutation	SNP	C	C3N-00175_TP	217341	141053597	40484662	492	10642											
PCDHB2	0	.	GRCh38	chr5	141094905	141094905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctaggcactattcagtggccGaggaaacggagagtggctcc	10	7	14	10	2	1	1	1	0	0	1	2	4	2	2	2	5	1	2	2	5	3	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.115G>C	p.Glu39Gln	p.E39Q	ENST00000194155	1/1	98	84	14	141	141	0	strelka-varscan-mutect	PCDHB2,missense_variant,p.Glu39Gln,ENST00000194155,NM_018936.3;PCDHB2,intron_variant,,ENST00000622947,;PCDHB2,intron_variant,,ENST00000624874,;PCDHB2,intron_variant,,ENST00000625033,;PCDHB2,upstream_gene_variant,,ENST00000624994,;CTC-270D5.1,intron_variant,,ENST00000623741,;CTC-270D5.1,downstream_gene_variant,,ENST00000623615,;	C	ENST00000194155	Transcript	missense_variant	328/4126	115/2397	39/798	E/Q	Gag/Cag		1		1	PCDHB2	HGNC	HGNC:8687	protein_coding	YES	CCDS4244.1	ENSP00000194155	Q9Y5E7		UPI00001273DC	NM_018936.3	deleterious_low_confidence(0)		1/1		Pfam_domain:PF08266,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77																	MODERATE	1	SNV				1										PASS		rs1410328083	.												C	3	2	39	141094905	141094905	G	C	1	0	0	0	0	1	0	0	0	11629	1059	37	4		4	PCDHB2	5	141094905	Missense_Mutation	SNP	G	C3N-00175_TP	41308	141094905	40443354	493	10643											
PCDHB9	0	.	GRCh38	chr5	141187814	141187814	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagatgaaggtcataacAgtatccaaaactacacgatc	17	8	6	10	1	1	2	1	1	0	1	4	3	3	2	2	1	3	1	2	1	6	3	rs2910320		C3N-00175_TP	C3N-00175_NB	A	A																c.496A>T	p.Ser166Cys	p.S166C	ENST00000316105	1/1	223	200	23	252	252	0	strelka-varscan-mutect	PCDHB9,missense_variant,p.Ser166Cys,ENST00000316105,NM_019119.4;PCDHB9,intron_variant,,ENST00000624909,;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.3;PCDHB16,downstream_gene_variant,,ENST00000625044,;CH17-140K24.5,downstream_gene_variant,,ENST00000623884,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,upstream_gene_variant,,ENST00000624089,;CH17-140K24.6,downstream_gene_variant,,ENST00000625144,;PCDHB9,intron_variant,,ENST00000623266,;CH17-140K24.5,intron_variant,,ENST00000623407,;	T	ENST00000316105	Transcript	missense_variant	688/4415	496/2394	166/797	S/C	Agt/Tgt	rs2910320	1		1	PCDHB9	HGNC	HGNC:8694	protein_coding	YES	CCDS75328.1	ENSP00000478606	Q9Y5E1		UPI00005764A0	NM_019119.4	deleterious_low_confidence(0.04)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF128,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		rs2910320	.												T	3	4	39	141187814	141187814	A	T	1	0	0	0	0	1	0	0	0	11636	188	7	4		4	PCDHB9	5	141187814	Missense_Mutation	SNP	A	C3N-00175_TP	92909	141187814	40350445	494	10644											
PCDHB12	0	.	GRCh38	chr5	141210920	141210920	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctcccagccctacctGcctctcccggaggcggcccc	3	7	10	21	2	2	0	0	0	2	0	4	1	2	1	7	4	3	1	7	4	1	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2013G>T	p.=	p.L671L	ENST00000239450	1/1	365	314	51	365	365	0	strelka-varscan-mutect	PCDHB12,synonymous_variant,p.=,ENST00000239450,NM_018932.3;PCDHB12,synonymous_variant,p.=,ENST00000624949,;PCDHB12,3_prime_UTR_variant,,ENST00000622978,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.3;CH17-140K24.2,intron_variant,,ENST00000624192,;	T	ENST00000239450	Transcript	synonymous_variant	2202/3853	2013/2388	671/795	L	ctG/ctT		1		1	PCDHB12	HGNC	HGNC:8683	protein_coding	YES	CCDS4254.1	ENSP00000239450	Q9Y5F1		UPI000000DAFD	NM_018932.3			1/1		Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF59,hmmpanther:PTHR24028																	LOW	1	SNV				1										PASS		.	.												T	2	4	39	141210920	141210920	G	T	1	0	0	0	0	0	0	0	1	11624	1306	46	2		2	PCDHB12	5	141210920	Silent	SNP	G	C3N-00175_TP	23106	141210920	40327339	495	10645											
PCDHB12	0	.	GRCh38	chr5	141210981	141210981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctcactgtctacctggtgGtggcgttggcctcagtgtcg	3	12	14	12	3	3	0	2	0	1	0	4	0	3	0	2	4	1	2	2	4	1	2	rs782607224		C3N-00175_TP	C3N-00175_NB	G	G																c.2074G>T	p.Val692Leu	p.V692L	ENST00000239450	1/1	495	437	58	486	486	0	strelka-varscan-mutect	PCDHB12,missense_variant,p.Val692Leu,ENST00000239450,NM_018932.3;PCDHB12,missense_variant,p.Val355Leu,ENST00000624949,;PCDHB12,3_prime_UTR_variant,,ENST00000622978,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.3;CH17-140K24.2,intron_variant,,ENST00000624192,;	T	ENST00000239450	Transcript	missense_variant	2263/3853	2074/2388	692/795	V/L	Gtg/Ttg	rs782607224,COSM735994	1		1	PCDHB12	HGNC	HGNC:8683	protein_coding	YES	CCDS4254.1	ENSP00000239450	Q9Y5F1		UPI000000DAFD	NM_018932.3	deleterious_low_confidence(0)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR24028:SF59,hmmpanther:PTHR24028,Pfam_domain:PF16492,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV			0,1	1										PASS		rs782607224	.												T	3	4	39	141210981	141210981	G	T	1	0	0	0	0	1	0	0	0	11624	1261	44	2		2	PCDHB12	5	141210981	Missense_Mutation	SNP	G	C3N-00175_TP	61	141210981	40327278	496	10646											
PCDHGA3	0	.	GRCh38	chr5	141346256	141346256	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcccggctcgcactttgtGggcgcggacggggttcgggc	3	7	18	13	7	0	0	0	0	0	0	2	1	0	1	1	6	0	3	1	6	0	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2223G>T	p.=	p.V741V	ENST00000253812	1/4	510	359	151	515	515	0	strelka-varscan-mutect	PCDHGA3,synonymous_variant,p.=,ENST00000253812,NM_018916.3;PCDHGA3,synonymous_variant,p.=,ENST00000619750,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,upstream_gene_variant,,ENST00000523390,NM_018922.2;PCDHGA2,downstream_gene_variant,,ENST00000528330,NM_032009.2;PCDHGB1,upstream_gene_variant,,ENST00000611598,NM_032095.1;AC005618.8,downstream_gene_variant,,ENST00000625053,;PCDHGA3,3_prime_UTR_variant,,ENST00000612467,;	T	ENST00000253812	Transcript	synonymous_variant	2389/4771	2223/2799	741/932	V	gtG/gtT		1		1	PCDHGA3	HGNC	HGNC:8701	protein_coding	YES	CCDS47290.1	ENSP00000253812	Q9Y5H0		UPI0000161C1A	NM_018916.3			1/4		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF75																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	141346256	141346256	G	T	1	0	0	0	0	0	0	0	1	11642	1335	47	2		2	PCDHGA3	5	141346256	Silent	SNP	G	C3N-00175_TP	135275	141346256	40192003	497	10647											
PCDHGB4	0	.	GRCh38	chr5	141389585	141389585	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaccccgcgctgggtccCgacggctctgcgctcttcga	3	9	12	17	6	2	0	0	0	2	0	4	2	3	0	3	2	2	4	3	2	1	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1701C>A	p.=	p.P567P	ENST00000519479	1/4	472	431	41	685	685	0	varscan-mutect	PCDHGB4,synonymous_variant,p.=,ENST00000615384,NM_032098.1;PCDHGB4,synonymous_variant,p.=,ENST00000519479,NM_003736.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA8,upstream_gene_variant,,ENST00000610569,NM_014004.2;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1;PCDHGA7,downstream_gene_variant,,ENST00000617050,NM_032087.2;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000519479	Transcript	synonymous_variant	1701/4578	1701/2772	567/923	P	ccC/ccA		1		1	PCDHGB4	HGNC	HGNC:8711	protein_coding	YES	CCDS54928.1	ENSP00000428288	Q9UN71		UPI000006F773	NM_003736.2			1/4		hmmpanther:PTHR24028:SF117,hmmpanther:PTHR24028,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	141389585	141389585	C	A	1	0	0	0	0	0	0	0	1	11652	639	23	1		1	PCDHGB4	5	141389585	Silent	SNP	C	C3N-00175_TP	43329	141389585	40148674	498	10648											
GPR151	0	.	GRCh38	chr5	146515710	146515710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacttgcatacatgaagcatActttggccaccacaacgatt	13	10	6	12	1	0	1	0	1	0	0	0	2	0	1	2	1	5	2	2	1	4	5	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.404T>C	p.Val135Ala	p.V135A	ENST00000311104	1/1	175	152	23	193	193	0	strelka-varscan-mutect	GPR151,missense_variant,p.Val135Ala,ENST00000311104,NM_194251.2;TCERG1,downstream_gene_variant,,ENST00000296702,NM_006706.3;TCERG1,downstream_gene_variant,,ENST00000394421,NM_001040006.1;TCERG1,downstream_gene_variant,,ENST00000506524,;TCERG1,downstream_gene_variant,,ENST00000549332,;TCERG1,downstream_gene_variant,,ENST00000511077,;	G	ENST00000311104	Transcript	missense_variant	481/3088	404/1260	135/419	V/A	gTa/gCa		1		-1	GPR151	HGNC	HGNC:23624	protein_coding	YES	CCDS34266.1	ENSP00000308733	Q8TDV0		UPI000003BCC7	NM_194251.2	tolerated(1)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF1,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												G	3	3	39	146515710	146515710	A	G	1	0	0	0	0	1	0	0	0	6543	391	14	5		5	GPR151	5	146515710	Missense_Mutation	SNP	A	C3N-00175_TP	5126125	146515710	35022549	499	10649											
DPYSL3	0	.	GRCh38	chr5	147413642	147413642	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttataagccatataaaccAtgaaggagttaacccctgca	15	9	6	11	0	0	1	0	1	0	0	0	2	0	2	5	1	4	2	5	1	7	5	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.836T>G	p.Met279Arg	p.M279R	ENST00000343218	5/14	145	128	17	145	145	0	strelka-varscan-mutect	DPYSL3,missense_variant,p.Met279Arg,ENST00000343218,NM_001197294.1;DPYSL3,missense_variant,p.Met165Arg,ENST00000398514,NM_001387.2;DPYSL3,downstream_gene_variant,,ENST00000512722,;DPYSL3,non_coding_transcript_exon_variant,,ENST00000519672,;DPYSL3,intron_variant,,ENST00000507309,;	C	ENST00000343218	Transcript	missense_variant	1034/5476	836/2055	279/684	M/R	aTg/aGg		1		-1	DPYSL3	HGNC	HGNC:3015	protein_coding	YES	CCDS56387.1	ENSP00000343690	Q14195	A0A140VK07	UPI000020CF0E	NM_001197294.1	tolerated(0.52)		5/14		Gene3D:3.20.20.140,Pfam_domain:PF01979,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF57,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR02033																	MODERATE	1	SNV	1			1										PASS		rs1368258730	.												C	3	2	39	147413642	147413642	A	C	1	0	0	0	0	1	0	0	0	4563	217	8	5		5	DPYSL3	5	147413642	Missense_Mutation	SNP	A	C3N-00175_TP	897932	147413642	34124617	500	10650											
NDST1	0	.	GRCh38	chr5	150528029	150528029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggccaagacgcgctcgtctGagtccatcccacacctgggc	7	7	11	16	3	1	2	0	1	1	1	4	2	3	2	4	2	0	1	4	2	1	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.739G>C	p.Glu247Gln	p.E247Q	ENST00000261797	3/15	137	121	16	145	145	0	strelka-varscan-mutect	NDST1,missense_variant,p.Glu247Gln,ENST00000261797,NM_001543.4;NDST1,missense_variant,p.Glu247Gln,ENST00000523767,NM_001301063.1;	C	ENST00000261797	Transcript	missense_variant	1241/8030	739/2649	247/882	E/Q	Gag/Cag		1		1	NDST1	HGNC	HGNC:7680	protein_coding	YES	CCDS34277.1	ENSP00000261797	P52848		UPI000012CDA5	NM_001543.4	tolerated(0.14)		3/15		Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF30																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	150528029	150528029	G	C	1	0	0	0	0	1	0	0	0	10276	1291	45	4		4	NDST1	5	150528029	Missense_Mutation	SNP	G	C3N-00175_TP	3114387	150528029	31010230	501	10651											
TNIP1	0	.	GRCh38	chr5	151062129	151062129	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccaaataaaacttacacTggatggaggcttctggactg	13	10	9	9	0	1	0	0	0	1	0	2	3	2	3	1	4	2	1	1	4	4	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.355A>T	p.Ser119Cys	p.S119C	ENST00000315050	4/18	189	121	68	187	186	1	strelka-varscan-mutect	TNIP1,missense_variant,p.Ser119Cys,ENST00000389378,NM_001252385.1;TNIP1,missense_variant,p.Ser119Cys,ENST00000315050,NM_001252391.1;TNIP1,missense_variant,p.Ser119Cys,ENST00000610535,NM_001258455.1;TNIP1,missense_variant,p.Ser119Cys,ENST00000523338,NM_001252392.1;TNIP1,missense_variant,p.Ser66Cys,ENST00000520931,NM_001252386.1;TNIP1,missense_variant,p.Ser119Cys,ENST00000610874,NM_001258456.1;TNIP1,missense_variant,p.Ser119Cys,ENST00000521591,NM_006058.4,NM_001258454.1;TNIP1,missense_variant,p.Ser119Cys,ENST00000522226,NM_001252390.1;TNIP1,missense_variant,p.Ser119Cys,ENST00000518977,NM_001252393.1;TNIP1,missense_variant,p.Ser119Cys,ENST00000523200,;TNIP1,missense_variant,p.Ser119Cys,ENST00000524280,;TNIP1,missense_variant,p.Ser66Cys,ENST00000522100,;TNIP1,missense_variant,p.Ser119Cys,ENST00000520695,;TNIP1,missense_variant,p.Ser119Cys,ENST00000521001,;TNIP1,missense_variant,p.Ser66Cys,ENST00000519339,;	A	ENST00000315050	Transcript	missense_variant,splice_region_variant	465/2785	355/1911	119/636	S/C	Agt/Tgt		1		-1	TNIP1	HGNC	HGNC:16903	protein_coding	YES	CCDS34280.1	ENSP00000317891	Q15025		UPI000000DCDC	NM_001252391.1	deleterious(0.02)		4/18		hmmpanther:PTHR31882,hmmpanther:PTHR31882:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	151062129	151062129	T	A	1	0	0	0	0	1	0	0	0	16787	1594	55	4		4	TNIP1	5	151062129	Missense_Mutation	SNP	T	C3N-00175_TP	534100	151062129	30476130	502	10652											
GEMIN5	0	.	GRCh38	chr5	154911877	154911877	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggaaattgcacaggggctCttcccggagagcatcccaca	10	7	11	13	2	1	1	0	0	1	1	4	3	3	2	2	4	2	3	2	4	1	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2017G>C	p.Glu673Gln	p.E673Q	ENST00000285873	15/28	116	101	15	142	142	0	strelka-varscan-mutect	GEMIN5,missense_variant,p.Glu673Gln,ENST00000285873,NM_001252156.1,NM_015465.4;	G	ENST00000285873	Transcript	missense_variant	2093/5397	2017/4527	673/1508	E/Q	Gag/Cag		1		-1	GEMIN5	HGNC	HGNC:20043	protein_coding	YES	CCDS4330.1	ENSP00000285873	Q8TEQ6		UPI000020D072	NM_001252156.1,NM_015465.4	tolerated(0.07)		15/28		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF89,SMART_domains:SM00320,Superfamily_domains:SSF50998																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	154911877	154911877	C	G	1	0	0	0	0	1	0	0	0	6205	922	32	4		4	GEMIN5	5	154911877	Missense_Mutation	SNP	C	C3N-00175_TP	3849748	154911877	26626382	503	10653											
GEMIN5	0	.	GRCh38	chr5	154921369	154921369	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acatggggggtactggtggcCcccaggctaaagtatataca	11	8	13	9	0	0	0	0	0	0	0	0	0	0	0	2	6	2	3	2	6	6	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1436G>C	p.Gly479Ala	p.G479A	ENST00000285873	10/28	144	122	22	148	148	0	strelka-varscan-mutect	GEMIN5,missense_variant,p.Gly479Ala,ENST00000285873,NM_001252156.1,NM_015465.4;	G	ENST00000285873	Transcript	missense_variant	1512/5397	1436/4527	479/1508	G/A	gGg/gCg		1		-1	GEMIN5	HGNC	HGNC:20043	protein_coding	YES	CCDS4330.1	ENSP00000285873	Q8TEQ6		UPI000020D072	NM_001252156.1,NM_015465.4	deleterious(0)		10/28		Gene3D:2.130.10.10,Pfam_domain:PF12894,PROSITE_profiles:PS50294,SMART_domains:SM00320,Superfamily_domains:SSF50998																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	154921369	154921369	C	G	1	0	0	0	0	1	0	0	0	6205	623	22	4		4	GEMIN5	5	154921369	Missense_Mutation	SNP	C	C3N-00175_TP	9492	154921369	26616890	504	10654											
PPP1R2P3	0	.	GRCh38	chr5	156850780	156850780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatagatgaaccaagccCtccttaccatagtatgatgg	15	9	8	9	0	0	3	0	2	0	1	1	4	1	3	4	1	3	1	4	1	8	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.218C>A	p.Pro73His	p.P73H	ENST00000522232	1/1	473	409	64	477	476	1	strelka-varscan-mutect	PPP1R2P3,missense_variant,p.Pro73His,ENST00000522232,;	A	ENST00000522232	Transcript	missense_variant	243/1991	218/618	73/205	P/H	cCt/cAt		1		1	PPP1R2P3	HGNC	HGNC:16318	protein_coding	YES		ENSP00000490297		G1AUC5	UPI000013EC9E				1/1		Pfam_domain:PF04979,hmmpanther:PTHR12398,hmmpanther:PTHR12398:SF23																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	156850780	156850780	C	A	1	0	0	0	0	1	0	0	0	12486	681	24	2		2	PPP1R2P3	5	156850780	Missense_Mutation	SNP	C	C3N-00175_TP	1929411	156850780	24687479	505	10655											
PPP1R2P3	0	.	GRCh38	chr5	156851151	156851151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatctactccaagtgacCaacagcaaaacaaattacga	19	6	6	10	1	1	1	0	1	1	0	2	3	2	2	2	1	5	1	2	1	8	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.589C>A	p.Gln197Lys	p.Q197K	ENST00000522232	1/1	194	162	32	301	300	1	strelka-varscan-mutect	PPP1R2P3,missense_variant,p.Gln197Lys,ENST00000522232,;	A	ENST00000522232	Transcript	missense_variant	614/1991	589/618	197/205	Q/K	Caa/Aaa		1		1	PPP1R2P3	HGNC	HGNC:16318	protein_coding	YES		ENSP00000490297		G1AUC5	UPI000013EC9E				1/1		hmmpanther:PTHR12398,hmmpanther:PTHR12398:SF23																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	156851151	156851151	C	A	1	0	0	0	0	1	0	0	0	12486	595	21	2		2	PPP1R2P3	5	156851151	Missense_Mutation	SNP	C	C3N-00175_TP	371	156851151	24687108	506	10656											
ADAM19	0	.	GRCh38	chr5	157488285	157488285	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgggaaacgatgcaatttgGtgcggggggaattggccggc	8	8	18	7	3	0	0	0	0	0	0	0	3	0	2	1	7	3	1	1	7	3	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2530C>G	p.Pro844Ala	p.P844A	ENST00000257527	21/23	74	62	12	90	90	0	strelka-varscan-mutect	ADAM19,missense_variant,p.Pro844Ala,ENST00000257527,NM_033274.4;ADAM19,missense_variant,p.Pro844Ala,ENST00000517905,;ADAM19,missense_variant,p.Pro415Ala,ENST00000517374,;ADAM19,3_prime_UTR_variant,,ENST00000517951,;	C	ENST00000257527	Transcript	missense_variant	2609/6481	2530/2757	844/918	P/A	Cca/Gca		1		-1	ADAM19	HGNC	HGNC:197	protein_coding	YES	CCDS4338.1	ENSP00000257527	Q9H013		UPI000013CF6A	NM_033274.4	deleterious(0.03)		21/23		Low_complexity_(Seg):seg,hmmpanther:PTHR11905:SF19,hmmpanther:PTHR11905																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	157488285	157488285	G	C	1	0	0	0	0	1	0	0	0	284	1261	44	4		4	ADAM19	5	157488285	Missense_Mutation	SNP	G	C3N-00175_TP	637134	157488285	24049974	507	10657											
ADAM19	0	.	GRCh38	chr5	157509301	157509301	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggaaaaaggctatttacGtgattaattgggcgttgtca	12	14	11	4	2	1	1	1	1	0	0	1	2	1	2	0	3	1	2	0	3	6	7	rs775973204		C3N-00175_TP	C3N-00175_NB	G	G																c.905C>G	p.Thr302Arg	p.T302R	ENST00000257527	9/23	66	59	7	66	66	0	strelka-varscan-mutect	ADAM19,missense_variant,p.Thr302Arg,ENST00000257527,NM_033274.4;ADAM19,missense_variant,p.Thr302Arg,ENST00000517905,;ADAM19,splice_region_variant,,ENST00000517951,;	C	ENST00000257527	Transcript	missense_variant,splice_region_variant	984/6481	905/2757	302/918	T/R	aCg/aGg	rs775973204	1		-1	ADAM19	HGNC	HGNC:197	protein_coding	YES	CCDS4338.1	ENSP00000257527	Q9H013		UPI000013CF6A	NM_033274.4	deleterious(0)		9/23		PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF19,hmmpanther:PTHR11905,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		rs775973204	.												C	3	2	39	157509301	157509301	G	C	1	0	0	0	0	1	0	0	0	284	1159	40	4		4	ADAM19	5	157509301	Missense_Mutation	SNP	G	C3N-00175_TP	21016	157509301	24028958	508	10658											
LSM11	0	.	GRCh38	chr5	157743780	157743780	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggagcggggggcgaggtcGgctggcgccgggagccccgc	3	2	23	13	7	0	0	0	0	0	0	1	3	0	2	3	8	2	1	3	8	0	0			C3N-00175_TP	C3N-00175_NB	G	G																c.30G>T	p.=	p.S10S	ENST00000286307	1/4	44	38	6	46	46	0	strelka-varscan-mutect	LSM11,synonymous_variant,p.=,ENST00000286307,NM_173491.3;THG1L,downstream_gene_variant,,ENST00000231198,NM_001317825.1,NM_017872.3;THG1L,downstream_gene_variant,,ENST00000521655,;THG1L,downstream_gene_variant,,ENST00000523575,;CTC-370J7.1,downstream_gene_variant,,ENST00000518369,;	T	ENST00000286307	Transcript	synonymous_variant	86/6584	30/1083	10/360	S	tcG/tcT	COSM5645496	1		1	LSM11	HGNC	HGNC:30860	protein_coding	YES	CCDS4342.1	ENSP00000286307	P83369		UPI0000072830	NM_173491.3			1/4		Low_complexity_(Seg):seg											1						LOW	1	SNV	1		1	1										PASS		rs1198522938	.												T	2	4	39	157743780	157743780	G	T	1	0	0	0	0	0	0	0	1	8958	1103	39	1		1	LSM11	5	157743780	Silent	SNP	G	C3N-00175_TP	234479	157743780	23794479	509	10659											
PWWP2A	0	.	GRCh38	chr5	160092615	160092615	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccgttatctttccggcTcacagttatagtaagaatac	12	12	8	9	2	2	1	1	0	1	1	3	1	3	1	2	2	1	4	2	2	7	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.2035A>T	p.Ser679Cys	p.S679C	ENST00000307063	2/2	141	102	39	152	152	0	strelka-varscan-mutect	PWWP2A,missense_variant,p.Ser679Cys,ENST00000307063,NM_001130864.1;PWWP2A,intron_variant,,ENST00000456329,NM_052927.2;PWWP2A,intron_variant,,ENST00000523662,NM_001267035.1;PWWP2A,intron_variant,,ENST00000524050,;PWWP2A,intron_variant,,ENST00000521424,;PWWP2A,downstream_gene_variant,,ENST00000520662,;	A	ENST00000307063	Transcript	missense_variant	2070/3346	2035/2268	679/755	S/C	Agc/Tgc		1		-1	PWWP2A	HGNC	HGNC:29406	protein_coding	YES	CCDS47332.1	ENSP00000305151	Q96N64		UPI0000EE3692	NM_001130864.1	deleterious(0)		2/2		PROSITE_profiles:PS50812,hmmpanther:PTHR23068,hmmpanther:PTHR23068:SF4,Gene3D:2.30.30.160,Pfam_domain:PF00855,SMART_domains:SM00293,Superfamily_domains:SSF63748																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	160092615	160092615	T	A	1	0	0	0	0	1	0	0	0	12998	1551	54	4		4	PWWP2A	5	160092615	Missense_Mutation	SNP	T	C3N-00175_TP	2348835	160092615	21445644	510	10660											
ZBED8	0	.	GRCh38	chr5	160394967	160394967	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagttgtctcagcaagcTgaatacccactttaagagga	12	11	9	9	0	2	2	2	1	1	1	3	3	2	3	1	1	3	3	1	1	4	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.524A>C	p.Gln175Pro	p.Q175P	ENST00000408953	2/2	215	193	22	238	238	0	strelka-varscan-mutect	ZBED8,missense_variant,p.Gln175Pro,ENST00000408953,NM_022090.4;ZBED8,missense_variant,p.Gln175Pro,ENST00000523213,NM_001303251.1;	G	ENST00000408953	Transcript	missense_variant	1032/2851	524/1785	175/594	Q/P	cAg/cCg		1		-1	ZBED8	HGNC	HGNC:30804	protein_coding	YES	CCDS34283.1	ENSP00000386184	Q8IZ13		UPI00000741A3	NM_022090.4	deleterious(0)		2/2		hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF102																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	39	160394967	160394967	T	G	1	0	0	0	0	1	0	0	0	18085	1580	55	5		5	ZBED8	5	160394967	Missense_Mutation	SNP	T	C3N-00175_TP	302352	160394967	21143292	511	10661											
SLU7	0	.	GRCh38	chr5	160413552	160413552	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatcatagtcaaacatcagTtgaggctggacatgttcatc	12	11	8	10	0	4	1	4	1	0	0	5	2	4	2	1	2	1	3	1	2	2	3			C3N-00175_TP	C3N-00175_NB	T	T																c.474A>G	p.=	p.Q158Q	ENST00000297151	5/16	148	108	40	194	194	0	strelka-varscan-mutect	SLU7,synonymous_variant,p.=,ENST00000297151,NM_006425.4;SLU7,downstream_gene_variant,,ENST00000520664,;SLU7,downstream_gene_variant,,ENST00000519349,;SLU7,downstream_gene_variant,,ENST00000521826,;SLU7,downstream_gene_variant,,ENST00000518268,;SLU7,downstream_gene_variant,,ENST00000521190,;	C	ENST00000297151	Transcript	synonymous_variant	862/3793	474/1761	158/586	Q	caA/caG	COSM1754162	1		-1	SLU7	HGNC	HGNC:16939	protein_coding	YES	CCDS4352.1	ENSP00000297151	O95391		UPI000013E3CE	NM_006425.4			5/16		hmmpanther:PTHR12942,hmmpanther:PTHR12942:SF2											1						LOW	1	SNV	1		1	1										PASS		.	.												C	2	2	39	160413552	160413552	T	C	1	0	0	0	0	0	0	0	1	15044	1722	60	5		5	SLU7	5	160413552	Silent	SNP	T	C3N-00175_TP	18585	160413552	21124707	512	10662											
PTTG1	0	.	GRCh38	chr5	160422782	160422782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttcgatgccccaccagcCttacctaaagctactagaaa	13	8	6	14	2	0	1	0	0	0	1	1	2	0	1	5	0	5	2	5	0	6	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.165C>T	p.=	p.A55A	ENST00000393964	2/5	271	207	64	335	335	0	strelka-varscan-mutect	PTTG1,synonymous_variant,p.=,ENST00000393964,NM_001282382.1;PTTG1,synonymous_variant,p.=,ENST00000520452,NM_001282383.1;PTTG1,synonymous_variant,p.=,ENST00000352433,NM_004219.3;PTTG1,synonymous_variant,p.=,ENST00000517480,;SLU7,upstream_gene_variant,,ENST00000297151,NM_006425.4;SLU7,upstream_gene_variant,,ENST00000520664,;SLU7,upstream_gene_variant,,ENST00000519349,;SLU7,upstream_gene_variant,,ENST00000521826,;PTTG1,non_coding_transcript_exon_variant,,ENST00000519287,;PTTG1,non_coding_transcript_exon_variant,,ENST00000523659,;PTTG1,non_coding_transcript_exon_variant,,ENST00000524244,;SLU7,upstream_gene_variant,,ENST00000518268,;SLU7,upstream_gene_variant,,ENST00000521190,;	T	ENST00000393964	Transcript	synonymous_variant	568/1070	165/609	55/202	A	gcC/gcT		1		1	PTTG1	HGNC	HGNC:9690	protein_coding	YES	CCDS4353.1	ENSP00000377536	O95997	Q6IAL9	UPI0000044DCB	NM_001282382.1			2/5		hmmpanther:PTHR10418,hmmpanther:PTHR10418:SF1,Pfam_domain:PF04856																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	160422782	160422782	C	T	1	0	0	0	0	0	0	0	1	12975	668	24	3		3	PTTG1	5	160422782	Silent	SNP	C	C3N-00175_TP	9230	160422782	21115477	513	10663											
TENM2	0	.	GRCh38	chr5	167952789	167952789	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgttcagcttcaggacagctGggtgctaaacagcaacgtgc	10	8	12	11	2	2	0	2	0	0	0	2	1	2	1	0	2	7	5	0	2	3	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.914G>C	p.Trp305Ser	p.W305S	ENST00000518659	4/29	185	119	66	210	210	0	strelka-varscan-mutect	TENM2,missense_variant,p.Trp184Ser,ENST00000519204,;TENM2,missense_variant,p.Trp305Ser,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Trp114Ser,ENST00000520394,;CTC-353G13.1,intron_variant,,ENST00000523050,;TENM2,non_coding_transcript_exon_variant,,ENST00000518693,;TENM2,non_coding_transcript_exon_variant,,ENST00000520393,;TENM2,downstream_gene_variant,,ENST00000517586,;TENM2,non_coding_transcript_exon_variant,,ENST00000522488,;	C	ENST00000518659	Transcript	missense_variant	953/8550	914/8325	305/2774	W/S	tGg/tCg		1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1	deleterious(0)		4/29		PROSITE_profiles:PS51361,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,Pfam_domain:PF06484																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	39	167952789	167952789	G	C	1	0	0	0	0	1	0	0	0	16172	1357	47	4		4	TENM2	5	167952789	Missense_Mutation	SNP	G	C3N-00175_TP	7530007	167952789	13585470	514	10664											
TENM2	0	.	GRCh38	chr5	168190449	168190449	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcattcagcagggccagacGgattggcccgcagtgaagtc	10	7	13	11	2	2	2	2	1	0	1	3	3	2	3	2	3	1	2	2	3	1	2	rs763280815		C3N-00175_TP	C3N-00175_NB	G	G																c.2682G>T	p.=	p.T894T	ENST00000518659	14/29	240	225	15	282	282	0	strelka-varscan-mutect	TENM2,synonymous_variant,p.=,ENST00000519204,;TENM2,synonymous_variant,p.=,ENST00000518659,NM_001122679.1;TENM2,synonymous_variant,p.=,ENST00000520394,;CTB-178M22.1,upstream_gene_variant,,ENST00000517408,;TENM2,non_coding_transcript_exon_variant,,ENST00000521126,;	T	ENST00000518659	Transcript	synonymous_variant	2721/8550	2682/8325	894/2774	T	acG/acT	rs763280815,COSM289884,COSM289885,COSM5071864,COSM5071865	1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1			14/29		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8											0,1,1,1,1						LOW		SNV	5		0,1,1,1,1	1										PASS		rs763280815	.												T	2	4	39	168190449	168190449	G	T	1	0	0	0	0	0	0	0	1	16172	1103	39	1		1	TENM2	5	168190449	Silent	SNP	G	C3N-00175_TP	237660	168190449	13347810	515	10665											
DOCK2	0	.	GRCh38	chr5	170008704	170008704	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggtatggggacatgagaCggctaattggcttctccatc	9	11	12	9	1	1	1	0	1	1	1	3	3	1	2	1	5	0	3	1	5	3	5	rs772417044		C3N-00175_TP	C3N-00175_NB	C	C																c.3190C>A	p.=	p.R1064R	ENST00000256935	32/52	270	236	34	286	285	1	strelka-varscan-mutect	DOCK2,synonymous_variant,p.=,ENST00000256935,NM_004946.2;DOCK2,synonymous_variant,p.=,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,intron_variant,,ENST00000433448,;	A	ENST00000256935	Transcript	synonymous_variant	3270/6097	3190/5493	1064/1830	R	Cgg/Agg	rs772417044,COSM3853625	1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2			32/52		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Superfamily_domains:SSF48371											0,1						LOW	1	SNV	1		0,1	1										PASS		rs772417044	.												A	2	1	39	170008704	170008704	C	A	1	0	0	0	0	0	0	0	1	4502	527	19	1		1	DOCK2	5	170008704	Silent	SNP	C	C3N-00175_TP	1818255	170008704	11529555	516	10666											
TLX3	0	.	GRCh38	chr5	171310358	171310358	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatgacggacgcgcaggtCaagacctggttccaaaaccg	14	5	11	11	4	1	2	1	1	0	1	2	3	2	3	3	3	1	2	3	3	5	1	rs780540255		C3N-00175_TP	C3N-00175_NB	C	C																c.630C>G	p.=	p.V210V	ENST00000296921	2/3	212	188	24	257	257	0	strelka-varscan-mutect	TLX3,synonymous_variant,p.=,ENST00000296921,NM_021025.2;RP11-546B8.6,upstream_gene_variant,,ENST00000619056,;	G	ENST00000296921	Transcript	synonymous_variant	712/1493	630/876	210/291	V	gtC/gtG	rs780540255	1		1	TLX3	HGNC	HGNC:13532	protein_coding	YES	CCDS34288.1	ENSP00000296921	O43711		UPI000013E3AA	NM_021025.2			2/3		Gene3D:1.10.10.60,Pfam_domain:PF00046,Prints_domain:PR00024,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF154,SMART_domains:SM00389,Superfamily_domains:SSF46689																	LOW	1	SNV	1			1										PASS		rs780540255	.												G	2	3	39	171310358	171310358	C	G	1	0	0	0	0	0	0	0	1	16407	813	29	4		4	TLX3	5	171310358	Silent	SNP	C	C3N-00175_TP	1301654	171310358	10227901	517	10667											
FGF18	0	.	GRCh38	chr5	171449161	171449161	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcgaagcccagctcctagtgGagacagacaccttcggtagt	10	8	11	12	2	0	2	0	0	0	2	3	4	1	2	3	2	2	2	3	2	3	3			C3N-00175_TP	C3N-00175_NB	G	G																c.265G>C	p.Glu89Gln	p.E89Q	ENST00000274625	4/5	225	157	68	220	220	0	strelka-varscan-mutect	FGF18,missense_variant,p.Glu89Gln,ENST00000274625,NM_003862.2;	C	ENST00000274625	Transcript	missense_variant	809/1986	265/624	89/207	E/Q	Gag/Cag	COSM1620051	1		1	FGF18	HGNC	HGNC:3674	protein_coding	YES	CCDS4378.1	ENSP00000274625	O76093		UPI000003C116	NM_003862.2	deleterious(0)		4/5		Gene3D:2.80.10.50,Pfam_domain:PF00167,hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF4,SMART_domains:SM00442,Superfamily_domains:SSF50353											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	39	171449161	171449161	G	C	1	0	0	0	0	1	0	0	0	5710	1175	41	4		4	FGF18	5	171449161	Missense_Mutation	SNP	G	C3N-00175_TP	138803	171449161	10089098	518	10668											
STK10	0	.	GRCh38	chr5	172105697	172105697	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtcgggtttctgggttctTatccagggctatcttcagga	5	14	14	8	1	4	0	1	0	3	0	6	1	5	1	1	5	0	3	1	5	2	5	rs757545210		C3N-00175_TP	C3N-00175_NB	T	T																c.829A>T	p.Lys277Ter	p.K277*	ENST00000176763	7/19	168	126	42	236	235	1	strelka-varscan-mutect	STK10,stop_gained,p.Lys277Ter,ENST00000176763,NM_005990.3;STK10,non_coding_transcript_exon_variant,,ENST00000522936,;STK10,downstream_gene_variant,,ENST00000517381,;STK10,downstream_gene_variant,,ENST00000518267,;STK10,downstream_gene_variant,,ENST00000519710,;STK10,non_coding_transcript_exon_variant,,ENST00000517524,;STK10,non_coding_transcript_exon_variant,,ENST00000517527,;STK10,downstream_gene_variant,,ENST00000521322,;STK10,downstream_gene_variant,,ENST00000519441,;	A	ENST00000176763	Transcript	stop_gained	1173/6060	829/2907	277/968	K/*	Aag/Tag	rs757545210,COSM13171	1		-1	STK10	HGNC	HGNC:11388	protein_coding	YES	CCDS34290.1	ENSP00000176763	O94804		UPI0000136104	NM_005990.3			7/19		PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF195,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs757545210	.												A	4	1	39	172105697	172105697	T	A	1	0	0	0	0	0	1	0	0	15663	1763	61	4		4	STK10	5	172105697	Nonsense_Mutation	SNP	T	C3N-00175_TP	656536	172105697	9432562	519	10669											
HMP19	0	.	GRCh38	chr5	174104246	174104246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaccatccttgtcagcCtggccctagctttccttgcg	5	12	9	15	1	2	0	2	0	0	0	4	0	4	0	5	2	3	1	5	2	1	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.232C>A	p.Leu78Met	p.L78M	ENST00000303177	4/5	206	143	63	191	191	0	strelka-varscan-mutect	HMP19,missense_variant,p.Leu78Met,ENST00000303177,NM_015980.4;HMP19,missense_variant,p.Leu78Met,ENST00000519867,;HMP19,missense_variant,p.Leu78Met,ENST00000519717,;HMP19,missense_variant,p.Leu78Met,ENST00000521278,;HMP19,intron_variant,,ENST00000521585,;HMP19,non_coding_transcript_exon_variant,,ENST00000521959,;HMP19,non_coding_transcript_exon_variant,,ENST00000521146,;HMP19,3_prime_UTR_variant,,ENST00000517587,;	A	ENST00000303177	Transcript	missense_variant	494/2452	232/516	78/171	L/M	Ctg/Atg		1		1	HMP19	EntrezGene		protein_coding	YES	CCDS4391.1	ENSP00000307722	Q9Y328		UPI000013054B	NM_015980.4	tolerated(0.07)		4/5		Transmembrane_helices:TMhelix,hmmpanther:PTHR28546,PIRSF_domain:PIRSF002383,Pfam_domain:PF06387																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	174104246	174104246	C	A	1	0	0	0	0	1	0	0	0	7136	680	24	2		2	HMP19	5	174104246	Missense_Mutation	SNP	C	C3N-00175_TP	1998549	174104246	7434013	520	10670											
DRD1	0	.	GRCh38	chr5	175442494	175442494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggccacagggatgtaaaaGcttattacagaggatgagat	15	9	12	5	0	0	2	0	1	0	2	0	5	0	4	1	3	2	2	1	3	4	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.606C>A	p.Ser202Arg	p.S202R	ENST00000393752	2/2	204	178	26	260	260	0	strelka-varscan-mutect	DRD1,missense_variant,p.Ser202Arg,ENST00000393752,NM_000794.3;	T	ENST00000393752	Transcript	missense_variant	1599/4054	606/1341	202/446	S/R	agC/agA		1		-1	DRD1	HGNC	HGNC:3020	protein_coding	YES	CCDS4393.1	ENSP00000377353	P21728		UPI00000503F5	NM_000794.3	deleterious(0)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF221,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	175442494	175442494	G	T	1	0	0	0	0	1	0	0	0	4575	962	34	2		2	DRD1	5	175442494	Missense_Mutation	SNP	G	C3N-00175_TP	1338248	175442494	6095765	521	10671											
CDHR2	0	.	GRCh38	chr5	176584885	176584885	+	Frame_Shift_Del	DEL	G	G	-																															tgctggggctggttctcagtGgcggccaacggctctgtgta																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2605delG	p.Ala869ArgfsTer31	p.A869Rfs*31	ENST00000510636	19/32	255	171	84	339	339	0	sindel-varindel-pindel	CDHR2,frameshift_variant,p.Ala869ArgfsTer31,ENST00000510636,NM_001171976.1;CDHR2,frameshift_variant,p.Ala869ArgfsTer31,ENST00000261944,NM_017675.4;CDHR2,frameshift_variant,p.Ala869ArgfsTer31,ENST00000506348,;CDHR2,upstream_gene_variant,,ENST00000513031,;CDHR2,upstream_gene_variant,,ENST00000508085,;	-	ENST00000510636	Transcript	frameshift_variant	2878/4509	2604/3933	868/1310	V/X	gtG/gt		1		1	CDHR2	HGNC	HGNC:18231	protein_coding	YES	CCDS34297.1	ENSP00000424565	Q9BYE9		UPI0000DBEE8C	NM_001171976.1			19/32		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF312,SMART_domains:SM00112,Superfamily_domains:SSF49313																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	39	176584885	176584885	G	-	1	0	1	0	1	0	0	0	0	2822	1335	47	0		0	CDHR2	5	176584885	Frame_Shift_Del	DEL	G	C3N-00175_TP	1142391	176584885	4953374	522	10672											
PDLIM7	0	.	GRCh38	chr5	177484116	177484116	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccatgtagaaggccctgttCcggatgggcgtcttgcaggc	6	10	14	11	2	1	1	0	0	1	1	3	2	3	2	3	4	1	3	3	4	2	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1125G>T	p.=	p.R375R	ENST00000355841	11/13	164	145	19	283	282	1	strelka-varscan-mutect	PDLIM7,synonymous_variant,p.=,ENST00000355841,NM_005451.4;PDLIM7,synonymous_variant,p.=,ENST00000359895,NM_203352.2;PDLIM7,downstream_gene_variant,,ENST00000393551,;PDLIM7,non_coding_transcript_exon_variant,,ENST00000505746,;RP11-1334A24.5,upstream_gene_variant,,ENST00000623593,;PDLIM7,3_prime_UTR_variant,,ENST00000486828,;PDLIM7,3_prime_UTR_variant,,ENST00000493815,;PDLIM7,non_coding_transcript_exon_variant,,ENST00000504380,;	A	ENST00000355841	Transcript	synonymous_variant	1192/1689	1125/1374	375/457	R	cgG/cgT		1		-1	PDLIM7	HGNC	HGNC:22958	protein_coding	YES	CCDS4422.1	ENSP00000348099	Q9NR12		UPI0000073DEF	NM_005451.4			11/13		PROSITE_profiles:PS50023,hmmpanther:PTHR24214:SF0,hmmpanther:PTHR24214,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	177484116	177484116	C	A	1	0	0	0	0	0	0	0	1	11772	842	30	2		2	PDLIM7	5	177484116	Silent	SNP	C	C3N-00175_TP	899231	177484116	4054143	523	10673											
TBC1D9B	0	.	GRCh38	chr5	179875004	179875004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgcaggatcaccttgatgCcctcatagaaaaagcagtcg	12	8	9	12	1	2	2	2	1	0	1	3	3	2	3	3	1	3	2	3	1	3	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2084G>T	p.Gly695Val	p.G695V	ENST00000356834	12/22	402	299	103	476	473	3	strelka-varscan-mutect	TBC1D9B,missense_variant,p.Gly695Val,ENST00000356834,NM_198868.2;TBC1D9B,missense_variant,p.Gly695Val,ENST00000355235,NM_015043.3;TBC1D9B,intron_variant,,ENST00000524222,;TBC1D9B,intron_variant,,ENST00000522472,;TBC1D9B,upstream_gene_variant,,ENST00000519746,;TBC1D9B,upstream_gene_variant,,ENST00000522180,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000518459,;TBC1D9B,upstream_gene_variant,,ENST00000521469,;TBC1D9B,upstream_gene_variant,,ENST00000520912,;TBC1D9B,upstream_gene_variant,,ENST00000519757,;TBC1D9B,upstream_gene_variant,,ENST00000521669,;TBC1D9B,upstream_gene_variant,,ENST00000522921,;TBC1D9B,downstream_gene_variant,,ENST00000518115,;	A	ENST00000356834	Transcript	missense_variant	2122/5173	2084/3753	695/1250	G/V	gGc/gTc		1		-1	TBC1D9B	HGNC	HGNC:29097	protein_coding	YES	CCDS43408.1	ENSP00000349291	Q66K14		UPI000034ECFF	NM_198868.2	deleterious(0)		12/22		PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF225,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923																	MODERATE	1	SNV	1			1										PASS		rs1338587332	.												A	3	1	39	179875004	179875004	C	A	1	0	0	0	0	1	0	0	0	16033	739	26	2		2	TBC1D9B	5	179875004	Missense_Mutation	SNP	C	C3N-00175_TP	2390888	179875004	1663255	524	10674											
RASGEF1C	0	.	GRCh38	chr5	180128449	180128449	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgggccagtgtgtagggGtcgctgcagacaccaaggag	8	7	17	9	1	0	1	0	0	0	1	1	2	0	2	2	4	2	4	2	4	2	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.600C>T	p.=	p.D200D	ENST00000393371	4/13	321	220	101	386	386	0	strelka-varscan-mutect	RASGEF1C,synonymous_variant,p.=,ENST00000393371,;RASGEF1C,synonymous_variant,p.=,ENST00000615330,;RASGEF1C,synonymous_variant,p.=,ENST00000361132,NM_175062.3;RASGEF1C,synonymous_variant,p.=,ENST00000522500,;RASGEF1C,non_coding_transcript_exon_variant,,ENST00000519883,;RASGEF1C,synonymous_variant,p.=,ENST00000520209,;	A	ENST00000393371	Transcript	synonymous_variant	897/2395	600/1401	200/466	D	gaC/gaT		1		-1	RASGEF1C	HGNC	HGNC:27400	protein_coding	YES	CCDS4452.1	ENSP00000377037	Q8N431		UPI0000037308				4/13		PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF186,Gene3D:2ii0A01,SMART_domains:SM00147,Superfamily_domains:0041591																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	180128449	180128449	G	A	1	0	0	0	0	0	0	0	1	13232	1252	44	3		3	RASGEF1C	5	180128449	Silent	SNP	G	C3N-00175_TP	253445	180128449	1409810	525	10675											
BTNL8	0	.	GRCh38	chr5	180908707	180908707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggaagtgcggttcttcagGggccagttctctagcgtggt	6	12	15	8	2	3	0	1	0	2	0	4	1	3	1	1	5	2	2	1	5	2	4	rs762655217		C3N-00175_TP	C3N-00175_NB	G	G																c.171G>A	p.=	p.R57R	ENST00000340184	2/8	324	232	92	403	403	0	strelka-varscan-mutect	BTNL8,synonymous_variant,p.=,ENST00000231229,NM_024850.2;BTNL8,synonymous_variant,p.=,ENST00000340184,NM_001040462.2;BTNL8,synonymous_variant,p.=,ENST00000508408,NM_001159708.1;BTNL8,intron_variant,,ENST00000400707,NM_001159709.1;BTNL8,intron_variant,,ENST00000610640,;BTNL8,intron_variant,,ENST00000511704,NM_001159707.1;BTNL8,upstream_gene_variant,,ENST00000533815,NM_001159710.1;BTNL8,upstream_gene_variant,,ENST00000505126,;Y_RNA,upstream_gene_variant,,ENST00000410920,;BTNL8,upstream_gene_variant,,ENST00000514448,;BTNL8,upstream_gene_variant,,ENST00000513442,;BTNL8,upstream_gene_variant,,ENST00000503543,;	A	ENST00000340184	Transcript	synonymous_variant	377/2071	171/1503	57/500	R	agG/agA	rs762655217	1		1	BTNL8	HGNC	HGNC:26131	protein_coding	YES	CCDS43413.1	ENSP00000342197	Q6UX41		UPI00000389ED	NM_001040462.2			2/8		hmmpanther:PTHR24100:SF73,hmmpanther:PTHR24100,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs762655217	.												A	2	1	39	180908707	180908707	G	A	1	0	0	0	0	0	0	0	1	1743	1223	43	3		3	BTNL8	5	180908707	Silent	SNP	G	C3N-00175_TP	780258	180908707	629552	526	10676											
BTNL3	0	.	GRCh38	chr5	181005462	181005462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatttacaaggaagagtgtgGtggcttctcagggtttccaa	10	12	13	6	0	1	1	1	0	1	1	3	3	2	2	1	4	1	2	1	4	4	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.991G>T	p.Val331Leu	p.V331L	ENST00000342868	8/8	312	273	39	328	328	0	varscan-mutect	BTNL3,missense_variant,p.Val331Leu,ENST00000342868,NM_197975.2;RNU6-1036P,upstream_gene_variant,,ENST00000383959,;	T	ENST00000342868	Transcript	missense_variant	1175/2440	991/1401	331/466	V/L	Gtg/Ttg		1		1	BTNL3	HGNC	HGNC:1143	protein_coding	YES	CCDS47358.1	ENSP00000341787	Q6UXE8		UPI00001D69EF	NM_197975.2	tolerated(0.2)		8/8		PROSITE_profiles:PS50188,hmmpanther:PTHR24100:SF69,hmmpanther:PTHR24100,Pfam_domain:PF13765,SMART_domains:SM00589,Superfamily_domains:SSF49899,Prints_domain:PR01407																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	181005462	181005462	G	T	1	0	0	0	0	1	0	0	0	1742	1261	44	2		2	BTNL3	5	181005462	Missense_Mutation	SNP	G	C3N-00175_TP	96755	181005462	532797	527	10677											
LYRM4	0	.	GRCh38	chr6	5186946	5186946	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagctgagatcgttccaaTgcactccagcctgggcgaca	9	8	12	12	2	0	2	0	2	0	1	3	4	2	2	3	1	3	3	3	1	1	1	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.242A>T	p.His81Leu	p.H81L	ENST00000500576	3/3	17	11	6	13	13	0	varscan-mutect	LYRM4,missense_variant,p.His81Leu,ENST00000500576,NM_001164840.2;LYRM4,intron_variant,,ENST00000330636,NM_020408.5;LYRM4,intron_variant,,ENST00000464010,NM_001164841.2;LYRM4,intron_variant,,ENST00000468929,;LYRM4,intron_variant,,ENST00000480566,;LYRM4,intron_variant,,ENST00000463032,;	A	ENST00000500576	Transcript	missense_variant	246/592	242/393	81/130	H/L	cAt/cTt		1		-1	LYRM4	HGNC	HGNC:21365	protein_coding	YES	CCDS54962.1	ENSP00000443900		F5H189	UPI0001B71BCB	NM_001164840.2	deleterious(0.02)		3/3		hmmpanther:PTHR16213																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	5186946	5186946	T	A	1	0	0	0	0	1	0	0	0	9033	1464	51	4		4	LYRM4	6	5186946	Missense_Mutation	SNP	T	C3N-00175_TP		5186946	165619033	528	10678											
DSP	0	.	GRCh38	chr6	7567792	7567792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcacagttttttgaagaGgcgcagtctactgaagcata	11	12	9	9	1	2	3	1	2	1	1	2	3	2	3	1	1	2	3	1	1	4	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1152G>T	p.Glu384Asp	p.E384D	ENST00000379802	10/24	440	331	109	501	501	0	strelka-varscan-mutect	DSP,missense_variant,p.Glu384Asp,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Glu384Asp,ENST00000418664,NM_001008844.1;DSP,downstream_gene_variant,,ENST00000506617,;	T	ENST00000379802	Transcript	missense_variant	1493/9796	1152/8616	384/2871	E/D	gaG/gaT		1		1	DSP	HGNC	HGNC:3052	protein_coding	YES	CCDS4501.1	ENSP00000369129	P15924		UPI000013C67F	NM_004415.2	tolerated(0.56)		10/24		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF234,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		rs1468028182	.												T	3	4	39	7567792	7567792	G	T	1	0	0	0	0	1	0	0	0	4602	991	35	2		2	DSP	6	7567792	Missense_Mutation	SNP	G	C3N-00175_TP	2380846	7567792	163238187	529	10679											
BMP6	0	.	GRCh38	chr6	7727128	7727128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacggagcagccgccgcCgtcgccgcagtcctcctcgg	4	4	13	20	8	0	0	0	0	0	0	4	1	2	1	7	2	2	3	7	2	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.173C>G	p.Pro58Arg	p.P58R	ENST00000283147	1/7	132	92	40	150	150	0	strelka-varscan-mutect	BMP6,missense_variant,p.Pro58Arg,ENST00000283147,NM_001718.4;	G	ENST00000283147	Transcript	missense_variant	332/2780	173/1542	58/513	P/R	cCg/cGg		1		1	BMP6	HGNC	HGNC:1073	protein_coding	YES	CCDS4503.1	ENSP00000283147	P22004		UPI0000126A2D	NM_001718.4	tolerated_low_confidence(0.07)		1/7		Low_complexity_(Seg):seg,hmmpanther:PTHR11848:SF137,hmmpanther:PTHR11848																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	7727128	7727128	C	G	1	0	0	0	0	1	0	0	0	1619	652	23	4		4	BMP6	6	7727128	Missense_Mutation	SNP	C	C3N-00175_TP	159336	7727128	163078851	530	10680											
DTNBP1	0	.	GRCh38	chr6	15627371	15627371	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcatggattctaagtcTgcgattaaagctgggagctg	9	12	13	7	1	3	0	1	0	2	0	3	3	3	2	0	2	3	3	0	2	3	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.327A>G	p.=	p.A109A	ENST00000344537	5/10	368	286	82	355	355	0	strelka-varscan-mutect	DTNBP1,synonymous_variant,p.=,ENST00000338950,NM_183040.2;DTNBP1,synonymous_variant,p.=,ENST00000344537,NM_032122.4;DTNBP1,synonymous_variant,p.=,ENST00000355917,NM_001271667.1,NM_001271668.1;DTNBP1,synonymous_variant,p.=,ENST00000622898,NM_001271669.1;DTNBP1,synonymous_variant,p.=,ENST00000511762,;DTNBP1,synonymous_variant,p.=,ENST00000515875,;DTNBP1,3_prime_UTR_variant,,ENST00000506844,;DTNBP1,3_prime_UTR_variant,,ENST00000513680,;DTNBP1,3_prime_UTR_variant,,ENST00000510395,;	C	ENST00000344537	Transcript	synonymous_variant	500/1403	327/1056	109/351	A	gcA/gcG		1		-1	DTNBP1	HGNC	HGNC:17328	protein_coding	YES	CCDS4534.1	ENSP00000341680	Q96EV8	A0A0S2Z5U8	UPI000006F968	NM_032122.4			5/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16294,hmmpanther:PTHR16294:SF5																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	39	15627371	15627371	T	C	1	0	0	0	0	0	0	0	1	4613	1567	55	5		5	DTNBP1	6	15627371	Silent	SNP	T	C3N-00175_TP	7900243	15627371	155178608	531	10681											
CAP2	0	.	GRCh38	chr6	17513933	17513933	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaaggaacaccacaccacGggcctcacatggagcaaaac	16	3	8	14	1	2	0	2	0	0	0	2	2	2	2	3	3	3	1	3	3	4	0	rs771675524		C3N-00175_TP	C3N-00175_NB	G	G																c.615G>T	p.=	p.T205T	ENST00000229922	7/13	204	161	43	197	197	0	strelka-varscan-mutect	CAP2,synonymous_variant,p.=,ENST00000229922,NM_006366.2;CAP2,synonymous_variant,p.=,ENST00000378990,;CAP2,intron_variant,,ENST00000616440,;CAP2,intron_variant,,ENST00000611958,;CAP2,intron_variant,,ENST00000489374,;CAP2,intron_variant,,ENST00000465994,;CAP2,intron_variant,,ENST00000493172,;CAP2,synonymous_variant,p.=,ENST00000479291,;CAP2,3_prime_UTR_variant,,ENST00000476263,;	T	ENST00000229922	Transcript	synonymous_variant	1147/3316	615/1434	205/477	T	acG/acT	rs771675524	1		1	CAP2	HGNC	HGNC:20039	protein_coding	YES	CCDS4539.1	ENSP00000229922	P40123		UPI0000126EC6	NM_006366.2			7/13		Superfamily_domains:0043456,Pfam_domain:PF01213,hmmpanther:PTHR10652,hmmpanther:PTHR10652:SF2																	LOW	1	SNV	1			1										PASS		rs771675524	.												T	2	4	39	17513933	17513933	G	T	1	0	0	0	0	0	0	0	1	2312	1103	39	1		1	CAP2	6	17513933	Silent	SNP	G	C3N-00175_TP	1886562	17513933	153292046	532	10682											
HIST1H4E	0	.	GRCh38	chr6	26204666	26204666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggtcgcggcaaaggcGgaaagggactgggtaaagga	11	6	18	6	3	1	0	0	0	1	0	2	3	1	3	0	7	0	2	0	7	4	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.22G>A	p.Gly8Arg	p.G8R	ENST00000615164	1/1	35	25	10	100	99	1	strelka-varscan-mutect	HIST1H4E,missense_variant,p.Gly8Arg,ENST00000615164,NM_003545.3;HIST1H2BF,downstream_gene_variant,,ENST00000356530,NM_003522.3;RP1-34B20.4,downstream_gene_variant,,ENST00000405418,;	A	ENST00000615164	Transcript	missense_variant	115/1487	22/312	8/103	G/R	Gga/Aga		1		1	HIST1H4E	HGNC	HGNC:4790	protein_coding	YES	CCDS4593.1	ENSP00000484789	P62805	B2R4R0	UPI000000003C	NM_003545.3	deleterious_low_confidence(0.03)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR10484,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00623																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	26204666	26204666	G	A	1	0	0	0	0	1	0	0	0	7057	1117	39	1		1	HIST1H4E	6	26204666	Missense_Mutation	SNP	G	C3N-00175_TP	8690733	26204666	144601313	533	10683											
HIST1H3E	0	.	GRCh38	chr6	26225259	26225259	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctccggccacgggcggCgtgaagaagccccatcgcta	8	4	14	15	6	0	2	0	1	0	1	2	2	1	2	4	3	2	2	4	3	3	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.105C>A	p.=	p.G35G	ENST00000634733	2/2	110	89	21	135	135	0	strelka-mutect	HIST1H3E,synonymous_variant,p.=,ENST00000634733,;HIST1H3E,synonymous_variant,p.=,ENST00000614911,NM_003532.2;	A	ENST00000634733	Transcript	synonymous_variant	465/2679	105/411	35/136	G	ggC/ggA		1		1	HIST1H3E	HGNC	HGNC:4769	protein_coding	YES	CCDS4596.1	ENSP00000489282	P68431		UPI00000003C7				2/2		hmmpanther:PTHR11426,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	26225259	26225259	C	A	1	0	0	0	0	0	0	0	1	7047	755	27	1		1	HIST1H3E	6	26225259	Silent	SNP	C	C3N-00175_TP	20593	26225259	144580720	534	10684											
POM121L2	0	.	GRCh38	chr6	27309735	27309735	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctgagctggagttggCatgggggttggcaatgccac	6	9	18	8	0	0	1	0	1	0	0	0	2	0	2	1	6	2	7	1	6	1	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2436G>C	p.Met812Ile	p.M812I	ENST00000444565	1/1	357	304	53	376	376	0	strelka-varscan-mutect	POM121L2,missense_variant,p.Met812Ile,ENST00000444565,NM_033482.3;POM121L2,intron_variant,,ENST00000429945,;	G	ENST00000444565	Transcript	missense_variant	2436/3108	2436/3108	812/1035	M/I	atG/atC		1		-1	POM121L2	HGNC	HGNC:13973	protein_coding	YES	CCDS59497.1	ENSP00000392726	Q96KW2		UPI0000198C27	NM_033482.3	tolerated(0.17)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	39	27309735	27309735	C	G	1	0	0	0	0	1	0	0	0	12353	710	25	4		4	POM121L2	6	27309735	Missense_Mutation	SNP	C	C3N-00175_TP	1084476	27309735	143496244	535	10685											
OR2B2	0	.	GRCh38	chr6	27911460	27911460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctaagtgtatatataaggGgattcagcatgggtgcaatg	12	12	12	5	0	1	0	1	0	0	0	2	1	2	1	1	3	2	3	1	3	6	6			C3N-00175_TP	C3N-00175_NB	G	G																c.860C>A	p.Pro287His	p.P287H	ENST00000303324	1/1	168	132	36	176	176	0	strelka-varscan-mutect	OR2B2,missense_variant,p.Pro287His,ENST00000303324,NM_033057.2;	T	ENST00000303324	Transcript	missense_variant	937/1212	860/1074	287/357	P/H	cCc/cAc	COSM5476670	1		-1	OR2B2	HGNC	HGNC:13966	protein_coding	YES	CCDS4641.1	ENSP00000304419	Q9GZK3	A0A126GWD0	UPI000004187A	NM_033057.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF254,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	39	27911460	27911460	G	T	1	0	0	0	0	1	0	0	0	11068	1232	43	2		2	OR2B2	6	27911460	Missense_Mutation	SNP	G	C3N-00175_TP	601725	27911460	142894519	536	10686											
GPX6	0	.	GRCh38	chr6	28510881	28510881	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatactcatagatggtgccTgttacccctttgttgcaatc	8	14	7	12	0	1	1	1	0	0	1	2	1	1	1	4	1	4	3	4	1	4	5	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.111A>C	p.=	p.T37T	ENST00000361902	2/5	140	99	41	140	140	0	strelka-varscan-mutect	GPX6,synonymous_variant,p.=,ENST00000361902,NM_182701.1;GPX6,synonymous_variant,p.=,ENST00000612264,;GPX6,synonymous_variant,p.=,ENST00000474923,;GPX6,non_coding_transcript_exon_variant,,ENST00000483058,;	G	ENST00000361902	Transcript	synonymous_variant	161/1712	111/666	37/221	T	acA/acC		1		-1	GPX6	HGNC	HGNC:4558	protein_coding	YES	CCDS43432.1	ENSP00000354581	P59796		UPI00001B2975	NM_182701.1			2/5		PIRSF_domain:PIRSF000303,PROSITE_profiles:PS51355,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF15																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	39	28510881	28510881	T	G	1	0	0	0	0	0	0	0	1	6623	1567	55	5		5	GPX6	6	28510881	Silent	SNP	T	C3N-00175_TP	599421	28510881	142295098	537	10687											
OR14J1	0	.	GRCh38	chr6	29307175	29307175	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcatgctgccattaacttCtccatacctctctgtgggaa	9	13	7	12	0	2	0	0	0	2	0	4	1	2	1	3	1	5	2	3	1	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.486C>T	p.=	p.F162F	ENST00000377160	1/1	254	194	60	267	266	1	strelka-varscan-mutect	OR14J1,synonymous_variant,p.=,ENST00000377160,NM_030946.1;	T	ENST00000377160	Transcript	synonymous_variant	486/966	486/966	162/321	F	ttC/ttT		1		1	OR14J1	HGNC	HGNC:13971	protein_coding	YES	CCDS34362.1	ENSP00000366365	Q9UGF5	A0A126GW10	UPI0000041CEC	NM_030946.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF42,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	39	29307175	29307175	C	T	1	0	0	0	0	0	0	0	1	11025	912	32	3		3	OR14J1	6	29307175	Silent	SNP	C	C3N-00175_TP	796294	29307175	141498804	538	10688											
SLC44A4	0	.	GRCh38	chr6	31864871	31864871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttaaagtctttacccagcCccgggatgcgaccggagaaa	11	8	10	12	3	2	1	0	0	2	1	2	4	2	2	4	2	3	0	4	2	4	3	rs150042455		C3N-00175_TP	C3N-00175_NB	C	C																c.1871G>T	p.Gly624Val	p.G624V	ENST00000229729	19/21	198	162	36	265	265	0	strelka-varscan-mutect	SLC44A4,missense_variant,p.Gly548Val,ENST00000544672,NM_001178045.1;SLC44A4,missense_variant,p.Gly624Val,ENST00000229729,NM_025257.2;SLC44A4,missense_variant,p.Gly582Val,ENST00000375562,NM_001178044.1;NEU1,upstream_gene_variant,,ENST00000375631,NM_000434.3;SLC44A4,downstream_gene_variant,,ENST00000414427,;SLC44A4,upstream_gene_variant,,ENST00000487680,;NEU1,upstream_gene_variant,,ENST00000495807,;NEU1,upstream_gene_variant,,ENST00000480384,;NEU1,upstream_gene_variant,,ENST00000491768,;SLC44A4,downstream_gene_variant,,ENST00000479777,;SLC44A4,downstream_gene_variant,,ENST00000475563,;	A	ENST00000229729	Transcript	missense_variant	1892/2589	1871/2133	624/710	G/V	gGg/gTg	rs150042455	1		-1	SLC44A4	HGNC	HGNC:13941	protein_coding	YES	CCDS4724.2	ENSP00000229729	Q53GD3	A0A140VJH4	UPI00004702CE	NM_025257.2	tolerated(0.51)		19/21		Pfam_domain:PF04515,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF37																	MODERATE	1	SNV	1			1										PASS		rs150042455	.												A	3	1	39	31864871	31864871	C	A	1	0	0	0	0	1	0	0	0	14915	623	22	2		2	SLC44A4	6	31864871	Missense_Mutation	SNP	C	C3N-00175_TP	2557696	31864871	138941108	539	10689											
EHMT2	0	.	GRCh38	chr6	31884765	31884765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgatggcggcgctgcccGtgaaggaggcccagtgcagg	6	4	19	12	5	0	1	0	1	0	0	0	3	0	2	2	6	2	2	2	6	1	0	rs768152055		C3N-00175_TP	C3N-00175_NB	G	G																c.2552C>A	p.Thr851Lys	p.T851K	ENST00000375528	18/26	59	48	11	69	69	0	strelka-varscan-mutect	EHMT2,missense_variant,p.Thr885Lys,ENST00000395728,;EHMT2,missense_variant,p.Thr851Lys,ENST00000375528,NM_001289413.1;EHMT2,missense_variant,p.Thr828Lys,ENST00000375537,NM_006709.4;EHMT2,missense_variant,p.Thr794Lys,ENST00000375530,NM_025256.6;EHMT2,missense_variant,p.Thr159Lys,ENST00000436026,;EHMT2-AS1,downstream_gene_variant,,ENST00000434689,;EHMT2,non_coding_transcript_exon_variant,,ENST00000480912,;EHMT2,non_coding_transcript_exon_variant,,ENST00000478491,;EHMT2,non_coding_transcript_exon_variant,,ENST00000494816,;EHMT2,non_coding_transcript_exon_variant,,ENST00000461880,;EHMT2,non_coding_transcript_exon_variant,,ENST00000477678,;	T	ENST00000375528	Transcript	missense_variant	2572/4047	2552/3702	851/1233	T/K	aCg/aAg	rs768152055	1		-1	EHMT2	HGNC	HGNC:14129	protein_coding	YES	CCDS75425.1	ENSP00000364678		A2ABF8	UPI0000E5AD1F	NM_001289413.1	deleterious(0.04)		18/26		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF361,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	2			1										PASS		rs768152055	.												T	3	4	39	31884765	31884765	G	T	1	0	0	0	0	1	0	0	0	4820	1145	40	1		1	EHMT2	6	31884765	Missense_Mutation	SNP	G	C3N-00175_TP	19894	31884765	138921214	540	10690											
AGER	0	.	GRCh38	chr6	32184212	32184212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccaggctccaactgctgttCcggcagccatcctgcttcct	5	10	8	18	1	0	0	0	0	0	0	4	0	4	0	6	2	4	5	6	2	1	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.11G>A	p.Gly4Glu	p.G4E	ENST00000375069	1/11	135	115	20	166	166	0	strelka-varscan-mutect	AGER,missense_variant,p.Gly4Glu,ENST00000375069,NM_001206929.1;AGER,missense_variant,p.Gly4Glu,ENST00000438221,NM_001206934.1;AGER,missense_variant,p.Gly4Glu,ENST00000375076,NM_001206932.1,NM_001136.4;AGER,missense_variant,p.Gly4Glu,ENST00000375055,NM_001206936.1,NM_001206954.1,NM_001206966.1,NM_001206940.1;AGER,missense_variant,p.Gly4Glu,ENST00000375067,NM_172197.2;AGER,missense_variant,p.Gly4Glu,ENST00000620802,;AGER,missense_variant,p.Gly4Glu,ENST00000450110,;AGER,missense_variant,p.Gly4Glu,ENST00000375056,;AGER,missense_variant,p.Gly4Glu,ENST00000538695,;AGER,5_prime_UTR_variant,,ENST00000375070,;AGER,5_prime_UTR_variant,,ENST00000375065,;PBX2,downstream_gene_variant,,ENST00000375050,NM_002586.4;RNF5,downstream_gene_variant,,ENST00000375094,NM_006913.3;MIR6833,downstream_gene_variant,,ENST00000620680,;XXbac-BPG300A18.13,downstream_gene_variant,,ENST00000559458,;RNF5,downstream_gene_variant,,ENST00000487940,;AGER,non_coding_transcript_exon_variant,,ENST00000484849,;PBX2,downstream_gene_variant,,ENST00000478678,;PBX2,downstream_gene_variant,,ENST00000496171,;AGER,upstream_gene_variant,,ENST00000473619,;PBX2,downstream_gene_variant,,ENST00000495300,;AGER,upstream_gene_variant,,ENST00000488669,;PBX2,downstream_gene_variant,,ENST00000480254,;AGER,upstream_gene_variant,,ENST00000469940,;	T	ENST00000375069	Transcript	missense_variant	111/1538	11/1263	4/420	G/E	gGa/gAa		1		-1	AGER	HGNC	HGNC:320	protein_coding	YES	CCDS75429.1	ENSP00000364210	Q15109		UPI000053E487	NM_001206929.1	tolerated_low_confidence(0.15)		1/11		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11973,hmmpanther:PTHR11973:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	32184212	32184212	C	T	1	0	0	0	0	1	0	0	0	456	855	30	3		3	AGER	6	32184212	Missense_Mutation	SNP	C	C3N-00175_TP	299447	32184212	138621767	541	10691											
NOTCH4	0	.	GRCh38	chr6	32195894	32195894	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagagccccgcccccatgcGggggcacgcttactgacacc	7	4	12	18	3	0	2	0	1	0	1	0	2	0	2	5	2	3	3	5	2	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.5555C>G	p.Pro1852Arg	p.P1852R	ENST00000375023	30/30	133	98	35	154	154	0	strelka-varscan-mutect	NOTCH4,missense_variant,p.Pro1852Arg,ENST00000375023,NM_004557.3;GPSM3,upstream_gene_variant,,ENST00000375040,NM_001276501.1;GPSM3,upstream_gene_variant,,ENST00000487761,;GPSM3,upstream_gene_variant,,ENST00000375043,NM_022107.1;GPSM3,upstream_gene_variant,,ENST00000619085,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000474612,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000491215,;GPSM3,upstream_gene_variant,,ENST00000472768,;	C	ENST00000375023	Transcript	missense_variant	5694/6745	5555/6012	1852/2003	P/R	cCg/cGg		1		-1	NOTCH4	HGNC	HGNC:7884	protein_coding	YES	CCDS34420.1	ENSP00000364163	Q99466		UPI0000130571	NM_004557.3	tolerated(0.09)		30/30		hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF64																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	32195894	32195894	G	C	1	0	0	0	0	1	0	0	0	10596	1116	39	4		4	NOTCH4	6	32195894	Missense_Mutation	SNP	G	C3N-00175_TP	11682	32195894	138610085	542	10692											
NOTCH4	0	.	GRCh38	chr6	32217153	32217153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtgtgccccagtttacCtgggagacacttgcagtgga	8	10	13	10	0	0	1	0	0	0	1	0	3	0	2	3	2	3	2	3	2	1	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1738G>T	p.Gly580Cys	p.G580C	ENST00000375023	10/30	162	121	41	179	178	1	strelka-varscan-mutect	NOTCH4,missense_variant,p.Gly580Cys,ENST00000375023,NM_004557.3;NOTCH4,upstream_gene_variant,,ENST00000465528,;NOTCH4,splice_region_variant,,ENST00000473562,;	A	ENST00000375023	Transcript	missense_variant,splice_region_variant	1877/6745	1738/6012	580/2003	G/C	Ggc/Tgc		1		-1	NOTCH4	HGNC	HGNC:7884	protein_coding	YES	CCDS34420.1	ENSP00000364163	Q99466		UPI0000130571	NM_004557.3	deleterious(0)		10/30		PROSITE_profiles:PS50026,hmmpanther:PTHR24033:SF64,hmmpanther:PTHR24033,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Pfam_domain:PF07645,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	32217153	32217153	C	A	1	0	0	0	0	1	0	0	0	10596	695	24	2		2	NOTCH4	6	32217153	Missense_Mutation	SNP	C	C3N-00175_TP	21259	32217153	138588826	543	10693											
TCP11	0	.	GRCh38	chr6	35118414	35118414	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttctgccagttctgcttcaAtgagagtaaggcctccagga	9	11	11	10	0	3	1	1	1	2	1	4	3	4	2	3	2	2	4	3	2	2	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1406T>C	p.Ile469Thr	p.I469T	ENST00000311875	10/10	402	315	87	374	374	0	strelka-varscan-mutect	TCP11,missense_variant,p.Ile469Thr,ENST00000311875,NM_001093728.2;TCP11,missense_variant,p.Ile393Thr,ENST00000611141,NM_001261821.1,NM_001261820.1;TCP11,missense_variant,p.Ile394Thr,ENST00000244645,NM_018679.5;TCP11,missense_variant,p.Ile394Thr,ENST00000373979,;TCP11,missense_variant,p.Ile464Thr,ENST00000444780,NM_001261817.1;TCP11,missense_variant,p.Ile418Thr,ENST00000412155,NM_001261819.1;TCP11,missense_variant,p.Ile423Thr,ENST00000373974,NM_001261818.1;TCP11,missense_variant,p.Ile456Thr,ENST00000512012,;TCP11,missense_variant,p.Ile393Thr,ENST00000418521,;TCP11,intron_variant,,ENST00000502480,;TCP11,downstream_gene_variant,,ENST00000486638,;TCP11,downstream_gene_variant,,ENST00000507706,;TCP11,downstream_gene_variant,,ENST00000492680,;TCP11,downstream_gene_variant,,ENST00000505400,;TCP11,3_prime_UTR_variant,,ENST00000504758,;TCP11,3_prime_UTR_variant,,ENST00000505911,;TCP11,3_prime_UTR_variant,,ENST00000455706,;TCP11,downstream_gene_variant,,ENST00000427376,;TCP11,downstream_gene_variant,,ENST00000469514,;TCP11,downstream_gene_variant,,ENST00000479418,;TCP11,downstream_gene_variant,,ENST00000509988,;TCP11,downstream_gene_variant,,ENST00000505335,;	G	ENST00000311875	Transcript	missense_variant	1824/2166	1406/1551	469/516	I/T	aTt/aCt		1		-1	TCP11	HGNC	HGNC:11658	protein_coding	YES	CCDS47413.1	ENSP00000308708	Q8WWU5	A0A140VK95	UPI0000EE4D7F	NM_001093728.2	deleterious(0.01)		10/10		Pfam_domain:PF05794,hmmpanther:PTHR12832,hmmpanther:PTHR12832:SF14																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	39	35118414	35118414	A	G	1	0	0	0	0	1	0	0	0	16120	101	4	5		5	TCP11	6	35118414	Missense_Mutation	SNP	A	C3N-00175_TP	2901261	35118414	135687565	544	10694											
SRPK1	0	.	GRCh38	chr6	35869613	35869613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagttgaggaagactggCacaccatggtgtctgacacc	11	8	11	11	0	1	3	0	2	1	1	1	4	1	4	2	3	1	2	2	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1280G>T	p.Cys427Phe	p.C427F	ENST00000373825	11/16	185	149	36	228	228	0	strelka-varscan-mutect	SRPK1,missense_variant,p.Cys427Phe,ENST00000373825,NM_003137.4;SRPK1,missense_variant,p.Cys411Phe,ENST00000423325,;SRPK1,missense_variant,p.Cys443Phe,ENST00000361690,;SRPK1,downstream_gene_variant,,ENST00000510290,;SRPK1,downstream_gene_variant,,ENST00000373821,;SRPK1,non_coding_transcript_exon_variant,,ENST00000346162,;SRPK1,non_coding_transcript_exon_variant,,ENST00000502969,;SRPK1,upstream_gene_variant,,ENST00000507292,;	A	ENST00000373825	Transcript	missense_variant	1566/4592	1280/1968	427/655	C/F	tGc/tTc		1		-1	SRPK1	HGNC	HGNC:11305	protein_coding	YES	CCDS47415.1	ENSP00000362931	Q96SB4		UPI000020DBDD	NM_003137.4	deleterious(0.01)		11/16		PROSITE_profiles:PS50011,SMART_domains:SM00220																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	35869613	35869613	C	A	1	0	0	0	0	1	0	0	0	15520	710	25	2		2	SRPK1	6	35869613	Missense_Mutation	SNP	C	C3N-00175_TP	751199	35869613	134936366	545	10695											
PNPLA1	0	.	GRCh38	chr6	36307588	36307588	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttaatctctttgcctaggGagagccctgctgaagactca	10	11	9	11	0	2	3	1	1	1	2	3	4	2	3	2	1	3	1	2	1	3	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1471G>T	p.Glu491Ter	p.E491*	ENST00000394571	8/8	90	77	13	73	73	0	strelka-varscan-mutect	PNPLA1,stop_gained,p.Glu396Ter,ENST00000388715,NM_173676.2;PNPLA1,stop_gained,p.Glu400Ter,ENST00000636260,;PNPLA1,stop_gained,p.Glu492Ter,ENST00000457797,;PNPLA1,stop_gained,p.Glu491Ter,ENST00000394571,NM_001145717.1;PNPLA1,stop_gained,p.Glu405Ter,ENST00000312917,NM_001145716.2;	T	ENST00000394571	Transcript	stop_gained,splice_region_variant	1471/1599	1471/1599	491/532	E/*	Gag/Tag		1		1	PNPLA1	HGNC	HGNC:21246	protein_coding	YES	CCDS54997.1	ENSP00000378072	Q8N8W4	B8XXQ3	UPI000189560E	NM_001145717.1			8/8		hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF23																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	39	36307588	36307588	G	T	1	0	0	0	0	0	1	0	0	12272	1188	41	2		2	PNPLA1	6	36307588	Nonsense_Mutation	SNP	G	C3N-00175_TP	437975	36307588	134498391	546	10696											
CPNE5	0	.	GRCh38	chr6	36742383	36742383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccctgtgccttcatgtagGacaccagttggtcagggatc	7	11	12	11	0	2	0	2	0	0	0	3	2	2	2	3	3	2	2	3	3	1	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1667C>A	p.Ser556Tyr	p.S556Y	ENST00000244751	21/21	184	158	26	227	227	0	strelka-varscan-mutect	CPNE5,missense_variant,p.Ser556Tyr,ENST00000244751,NM_020939.1;CPNE5,missense_variant,p.Ser264Tyr,ENST00000393189,NM_001314018.1,NM_001314020.1;CPNE5,non_coding_transcript_exon_variant,,ENST00000459703,;CPNE5,non_coding_transcript_exon_variant,,ENST00000493411,;CPNE5,downstream_gene_variant,,ENST00000633929,;RP3-431A14.4,downstream_gene_variant,,ENST00000494644,;	T	ENST00000244751	Transcript	missense_variant	2292/3897	1667/1782	556/593	S/Y	tCc/tAc		1		-1	CPNE5	HGNC	HGNC:2318	protein_coding	YES	CCDS4825.1	ENSP00000244751	Q9HCH3		UPI0000127C15	NM_020939.1	deleterious(0)		21/21		hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF51,Pfam_domain:PF07002																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	36742383	36742383	G	T	1	0	0	0	0	1	0	0	0	3610	1174	41	2		2	CPNE5	6	36742383	Missense_Mutation	SNP	G	C3N-00175_TP	434795	36742383	134063596	547	10697											
CMTR1	0	.	GRCh38	chr6	37446292	37446292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactacttctctttttcaggCcaagatgggcttcagggaag	9	12	10	10	0	3	1	2	0	1	1	4	2	3	2	1	3	1	1	1	3	3	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.287C>G	p.Ala96Gly	p.A96G	ENST00000373451	4/24	98	81	17	132	132	0	strelka-varscan-mutect	CMTR1,missense_variant,p.Ala96Gly,ENST00000373451,NM_015050.2;CMTR1,missense_variant,p.Ala96Gly,ENST00000455891,;CMTR1,downstream_gene_variant,,ENST00000471097,;	G	ENST00000373451	Transcript	missense_variant,splice_region_variant	451/4033	287/2508	96/835	A/G	gCc/gGc		1		1	CMTR1	HGNC	HGNC:21077	protein_coding	YES	CCDS4835.1	ENSP00000362550	Q8N1G2		UPI00000700C2	NM_015050.2	deleterious(0.02)		4/24		PROSITE_profiles:PS50174,hmmpanther:PTHR16121:SF0,hmmpanther:PTHR16121,Pfam_domain:PF01585,SMART_domains:SM00443																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	37446292	37446292	C	G	1	0	0	0	0	1	0	0	0	3366	753	26	4		4	CMTR1	6	37446292	Missense_Mutation	SNP	C	C3N-00175_TP	703909	37446292	133359687	548	10698											
MDGA1	0	.	GRCh38	chr6	37654880	37654881	+	Frame_Shift_Ins	INS	-	-	T																															agacacctggcaggtgtagcINStggcatagtcctggggccgc																								novel		C3N-00175_TP	C3N-00175_NB	-	-																c.631dupA	p.Ser211LysfsTer10	p.S211Kfs*10	ENST00000434837	5/17	204	154	50	213	213	0	sindel-varindel-pindel	MDGA1,frameshift_variant,p.Ser211LysfsTer10,ENST00000434837,NM_153487.3;MDGA1,frameshift_variant,p.Ser211LysfsTer10,ENST00000505425,;MDGA1,downstream_gene_variant,,ENST00000515437,;MDGA1,downstream_gene_variant,,ENST00000508399,;MDGA1,non_coding_transcript_exon_variant,,ENST00000478143,;	T	ENST00000434837	Transcript	frameshift_variant	1810-1811/10736	631-632/2868	211/955	S/KX	agc/aAgc		1		-1	MDGA1	HGNC	HGNC:19267	protein_coding	YES	CCDS47417.1	ENSP00000402584	Q8NFP4		UPI0000071D28	NM_153487.3			5/17		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF66,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF49265																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	39	37654880	37654880	-	T	1	0	1	1	0	0	0	0	0	9344	797	28	0		0	MDGA1	6	37654880	Frame_Shift_Ins	INS	-	C3N-00175_TP	208588	37654880	133151099	549	10699											
GLO1	0	.	GRCh38	chr6	38677375	38677397	+	Splice_Site	DEL	TCATTTTACCTGTAAAATGAAAA	TCATTTTACCTGTAAAATGAAAA	-																															ttgaataaatgccaggccttTcattttacctgtaaaatgaa																								novel		C3N-00175_TP	C3N-00175_NB	TCATTTTACCTGTAAAATGAAAA	TCATTTTACCTGTAAAATGAAAA																c.467-14_475delTTTTCATTTTACAGGTAAAATGA		p.X156_splice	ENST00000373365	6/6	125	98	27	210	210	0	sindel-varindel-pindel	GLO1,splice_acceptor_variant,,ENST00000373365,NM_006708.2;GLO1,splice_acceptor_variant,,ENST00000470973,;	-	ENST00000373365	Transcript	splice_acceptor_variant,coding_sequence_variant,intron_variant	?-562/2012	?-475/555	?-159/184				1		-1	GLO1	HGNC	HGNC:4323	protein_coding	YES	CCDS4837.1	ENSP00000362463	Q04760	X5DNM4	UPI0000169DF9	NM_006708.2			6/6	5/5																		HIGH	1	deletion	1			1										PASS		.	.												-	8	5	39	38677375	38677375	TCATTTTACCTGTAAAATGAAAA	-	1	0	1	0	1	0	0	1	0	6328	1792	62	0		0	GLO1	6	38677375	Splice_Site	DEL	TCATTTTACCTGTAAAATGAAAA	C3N-00175_TP	1022495	38677375	132128604	550	10700											
DNAH8	0	.	GRCh38	chr6	38723014	38723014	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatctcattccttctgaaGaagggatagttcttccagat	10	13	10	8	0	3	3	1	1	3	2	6	5	5	5	2	2	0	1	2	2	3	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.205G>T	p.Glu69Ter	p.E69*	ENST00000327475	2/93	226	168	58	240	240	0	strelka-varscan-mutect	DNAH8,stop_gained,p.Glu69Ter,ENST00000327475,NM_001206927.1;DNAH8,stop_gained,p.Glu69Ter,ENST00000449981,;DNAH8,stop_gained,p.Glu69Ter,ENST00000373278,;DNAH8,upstream_gene_variant,,ENST00000359357,;	T	ENST00000327475	Transcript	stop_gained	314/14360	205/14124	69/4707	E/*	Gaa/Taa		1		1	DNAH8	HGNC	HGNC:2952	protein_coding	YES	CCDS75447.1	ENSP00000333363		A0A075B6F3	UPI000179A984	NM_001206927.1			2/93																			HIGH	1	SNV	5			1										PASS		.	.												T	4	4	39	38723014	38723014	G	T	1	0	0	0	0	0	1	0	0	4422	943	33	2		2	DNAH8	6	38723014	Nonsense_Mutation	SNP	G	C3N-00175_TP	45639	38723014	132082965	551	10701											
KIF6	0	.	GRCh38	chr6	39360419	39360419	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggttggtggcctcctctgcCcaccagacttcaaactcttt	7	12	8	14	0	3	1	1	0	2	1	4	1	4	1	4	3	2	1	4	3	1	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2058G>A	p.Trp686Ter	p.W686*	ENST00000287152	18/23	125	85	40	165	165	0	strelka-varscan-mutect	KIF6,stop_gained,p.Trp686Ter,ENST00000287152,NM_145027.4,NM_001289021.1,NM_001289020.1;KIF6,stop_gained,p.Trp578Ter,ENST00000458470,;KIF6,stop_gained,p.Trp137Ter,ENST00000394362,;KIF6,stop_gained,p.Trp137Ter,ENST00000538893,;KIF6,stop_gained,p.Trp137Ter,ENST00000229913,NM_001289024.1;	T	ENST00000287152	Transcript	stop_gained	2153/9082	2058/2445	686/814	W/*	tgG/tgA		1		-1	KIF6	HGNC	HGNC:21202	protein_coding	YES	CCDS4844.1	ENSP00000287152	Q6ZMV9		UPI0000457436	NM_145027.4,NM_001289021.1,NM_001289020.1			18/23		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF194																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	39	39360419	39360419	C	T	1	0	0	0	0	0	1	0	0	8173	624	22	3		3	KIF6	6	39360419	Nonsense_Mutation	SNP	C	C3N-00175_TP	637405	39360419	131445560	552	10702											
LRFN2	0	.	GRCh38	chr6	40392271	40392271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgacgtcccagcccctctcCcggctggagtcctggagtcc	4	7	11	19	3	1	0	0	0	1	0	5	3	4	2	7	3	1	1	7	3	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2042G>T	p.Gly681Val	p.G681V	ENST00000338305	3/3	60	43	17	74	74	0	strelka-mutect	LRFN2,missense_variant,p.Gly681Val,ENST00000338305,NM_020737.2;	A	ENST00000338305	Transcript	missense_variant	2585/3270	2042/2370	681/789	G/V	gGg/gTg		1		-1	LRFN2	HGNC	HGNC:21226	protein_coding	YES	CCDS34443.1	ENSP00000345985	Q9ULH4		UPI00001C1E47	NM_020737.2	tolerated(0.06)		3/3		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25																	MODERATE	1	SNV	1			1										PASS		rs1307544599	.												A	3	1	39	40392271	40392271	C	A	1	0	0	0	0	1	0	0	0	8832	623	22	2		2	LRFN2	6	40392271	Missense_Mutation	SNP	C	C3N-00175_TP	1031852	40392271	130413708	553	10703											
CUL9	0	.	GRCh38	chr6	43188676	43188676	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtggaggaggtcactgAgcgggaccaccctctggtcc	6	7	16	12	1	2	1	1	1	1	0	3	4	3	4	3	6	1	1	3	6	0	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2141A>T	p.Glu714Val	p.E714V	ENST00000252050	8/41	137	108	29	137	137	0	strelka-mutect	CUL9,missense_variant,p.Glu714Val,ENST00000252050,NM_015089.3;CUL9,missense_variant,p.Glu714Val,ENST00000372647,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,non_coding_transcript_exon_variant,,ENST00000451399,;CUL9,non_coding_transcript_exon_variant,,ENST00000510282,;	T	ENST00000252050	Transcript	missense_variant	2225/7780	2141/7554	714/2517	E/V	gAg/gTg		1		1	CUL9	HGNC	HGNC:15982	protein_coding	YES	CCDS4890.1	ENSP00000252050	Q8IWT3		UPI000006F22F	NM_015089.3	tolerated(0.07)		8/41		hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	43188676	43188676	A	T	1	0	0	0	0	1	0	0	0	3871	304	11	4		4	CUL9	6	43188676	Missense_Mutation	SNP	A	C3N-00175_TP	2796405	43188676	127617303	554	10704											
HSP90AB1	0	.	GRCh38	chr6	44248681	44248681	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtggagacttttgcctttCaggcagaaattgcccaactc	10	11	10	10	0	1	2	1	0	0	2	2	3	1	2	2	3	3	1	2	3	2	4	rs765906022		C3N-00175_TP	C3N-00175_NB	C	C																c.52C>G	p.Gln18Glu	p.Q18E	ENST00000371554	2/12	149	131	18	141	141	0	strelka-varscan-mutect	HSP90AB1,missense_variant,p.Gln18Glu,ENST00000371554,;HSP90AB1,missense_variant,p.Gln18Glu,ENST00000620073,NM_001271970.1;HSP90AB1,missense_variant,p.Gln18Glu,ENST00000353801,NM_001271969.1;HSP90AB1,missense_variant,p.Gln18Glu,ENST00000371646,NM_001271971.1,NM_007355.3,NM_001271972.1;	G	ENST00000371554	Transcript	missense_variant	266/2674	52/2175	18/724	Q/E	Cag/Gag	rs765906022,COSM95615	1		1	HSP90AB1	HGNC	HGNC:5258	protein_coding	YES	CCDS4909.1	ENSP00000360609	P08238	A0A024RD80	UPI00001411EF		deleterious(0.02)		2/12		Gene3D:3.30.565.10,HAMAP:MF_00505,PIRSF_domain:PIRSF002583,Prints_domain:PR00775,hmmpanther:PTHR11528,Superfamily_domains:SSF55874											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs765906022	.												G	3	3	39	44248681	44248681	C	G	1	0	0	0	0	1	0	0	0	7298	827	29	4		4	HSP90AB1	6	44248681	Missense_Mutation	SNP	C	C3N-00175_TP	1060005	44248681	126557298	555	10705											
TMEM151B	0	.	GRCh38	chr6	44275829	44275829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggagaagctatttggcCtggagggcccgggctcggcc	6	7	17	11	3	0	1	0	0	0	1	1	3	0	2	3	6	1	2	3	6	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1003C>A	p.Leu335Met	p.L335M	ENST00000451188	3/3	101	74	27	120	120	0	strelka-varscan-mutect	TMEM151B,missense_variant,p.Leu335Met,ENST00000451188,NM_001137560.1;TMEM151B,intron_variant,,ENST00000438774,;TCTE1,downstream_gene_variant,,ENST00000371505,NM_182539.3;TCTE1,downstream_gene_variant,,ENST00000371504,;RP11-444E17.6,intron_variant,,ENST00000505802,;	A	ENST00000451188	Transcript	missense_variant	1280/4895	1003/1701	335/566	L/M	Ctg/Atg		1		1	TMEM151B	HGNC	HGNC:21315	protein_coding	YES	CCDS47437.1	ENSP00000393161	Q8IW70		UPI00006C0A4E	NM_001137560.1	tolerated(0.09)		3/3		Pfam_domain:PF14857,hmmpanther:PTHR31893,hmmpanther:PTHR31893:SF4,Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		rs1481080724	.												A	3	1	39	44275829	44275829	C	A	1	0	0	0	0	1	0	0	0	16513	680	24	2		2	TMEM151B	6	44275829	Missense_Mutation	SNP	C	C3N-00175_TP	27148	44275829	126530150	556	10706											
ADGRF5	0	.	GRCh38	chr6	46879862	46879862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatggtgagcttggacaccGaagtcatgttgttgaaaagt	11	11	14	5	1	1	2	1	2	0	0	1	5	1	4	1	3	1	3	1	3	3	3	rs199931272		C3N-00175_TP	C3N-00175_NB	G	G																c.992C>T	p.Ser331Leu	p.S331L	ENST00000283296	9/21	297	235	62	314	314	0	strelka-varscan-mutect	ADGRF5,missense_variant,p.Ser331Leu,ENST00000283296,NM_001098518.1;ADGRF5,missense_variant,p.Ser331Leu,ENST00000265417,NM_015234.4;	A	ENST00000283296	Transcript	missense_variant	1281/5810	992/4041	331/1346	S/L	tCg/tTg	rs199931272	1		-1	ADGRF5	HGNC	HGNC:19030	protein_coding	YES	CCDS4919.1	ENSP00000283296	Q8IZF2		UPI000007075A	NM_001098518.1	tolerated(0.06)		9/21		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs199931272	.												A	3	1	39	46879862	46879862	G	A	1	0	0	0	0	1	0	0	0	367	1059	37	1		1	ADGRF5	6	46879862	Missense_Mutation	SNP	G	C3N-00175_TP	2604033	46879862	123926117	557	10707											
PTCHD4	0	.	GRCh38	chr6	48068553	48068553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgccggctcacgcacaaacCcagcctgtggcagaacgact	10	5	11	15	3	1	1	1	0	0	1	1	2	1	1	3	2	4	3	3	2	2	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.103G>T	p.Gly35Cys	p.G35C	ENST00000339488	1/3	220	195	25	238	238	0	strelka-varscan-mutect	PTCHD4,missense_variant,p.Gly35Cys,ENST00000398738,NM_207499.2;PTCHD4,missense_variant,p.Gly35Cys,ENST00000339488,NM_001013732.3;	A	ENST00000339488	Transcript	missense_variant	137/2850	103/2541	35/846	G/C	Ggt/Tgt		1		-1	PTCHD4	HGNC	HGNC:21345	protein_coding	YES	CCDS34473.2	ENSP00000341914	Q6ZW05		UPI000179A8D3	NM_001013732.3	deleterious(0)		1/3		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	48068553	48068553	C	A	1	0	0	0	0	1	0	0	0	12887	623	22	2		2	PTCHD4	6	48068553	Missense_Mutation	SNP	C	C3N-00175_TP	1188691	48068553	122737426	558	10708											
RHAG	0	.	GRCh38	chr6	49618152	49618152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagcatttgggtggggctCgtttttcccaggacagctcc	6	12	12	11	1	1	0	1	0	0	0	4	1	3	1	2	4	2	4	2	4	0	3	rs138437733		C3N-00175_TP	C3N-00175_NB	C	C																c.408G>A	p.=	p.T136T	ENST00000371175	3/10	299	238	61	330	330	0	strelka-varscan-mutect	RHAG,synonymous_variant,p.=,ENST00000371175,NM_000324.2;RHAG,synonymous_variant,p.=,ENST00000229810,;RHAG,synonymous_variant,p.=,ENST00000618248,;	T	ENST00000371175	Transcript	synonymous_variant	435/1912	408/1230	136/409	T	acG/acA	rs138437733,COSM1546674	1		-1	RHAG	HGNC	HGNC:10006	protein_coding	YES	CCDS4927.1	ENSP00000360217	Q02094		UPI000006D18F	NM_000324.2			3/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR11730:SF32,hmmpanther:PTHR11730,Pfam_domain:PF00909,Gene3D:1.10.3430.10,Superfamily_domains:0044218											0,1						LOW	1	SNV	1		0,1	1										PASS		rs138437733	.												T	2	4	39	49618152	49618152	C	T	1	0	0	0	0	0	0	0	1	13487	871	31	1		1	RHAG	6	49618152	Silent	SNP	C	C3N-00175_TP	1549599	49618152	121187827	559	10709											
HCRTR2	0	.	GRCh38	chr6	55263791	55263791	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatggtgttggcttatcTgcaaatatttcgcaaactct	9	16	7	9	1	3	0	1	0	3	0	5	0	3	0	0	2	2	4	0	2	4	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.731T>C	p.Leu244Pro	p.L244P	ENST00000615358	5/8	134	95	39	120	120	0	strelka-varscan-mutect	HCRTR2,missense_variant,p.Leu244Pro,ENST00000615358,;HCRTR2,missense_variant,p.Leu244Pro,ENST00000370862,NM_001526.3;	C	ENST00000615358	Transcript	missense_variant	1194/1936	731/1335	244/444	L/P	cTg/cCg		1		1	HCRTR2	HGNC	HGNC:4849	protein_coding	YES	CCDS4956.1	ENSP00000477548	O43614	S4X0W3	UPI000013D07A		tolerated(0.11)		5/8		PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF75,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	55263791	55263791	T	C	1	0	0	0	0	1	0	0	0	6889	1580	55	5		5	HCRTR2	6	55263791	Missense_Mutation	SNP	T	C3N-00175_TP	5645639	55263791	115542188	560	10710											
DST	0	.	GRCh38	chr6	56459025	56459025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatctctttgaggacttgtCcaatttgctggcaggtgatt	7	16	10	8	0	1	2	0	2	1	0	3	3	2	3	1	3	1	2	1	3	2	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.16594G>T	p.Asp5532Tyr	p.D5532Y	ENST00000312431	95/95	67	48	19	65	65	0	strelka-varscan-mutect	DST,missense_variant,p.Asp7456Tyr,ENST00000361203,;DST,missense_variant,p.Asp5492Tyr,ENST00000421834,NM_183380.3;DST,missense_variant,p.Asp5532Tyr,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,missense_variant,p.Asp5370Tyr,ENST00000370788,;DST,missense_variant,p.Asp5166Tyr,ENST00000244364,NM_015548.4;DST,missense_variant,p.Asp254Tyr,ENST00000523292,;DST,downstream_gene_variant,,ENST00000523597,;DST,non_coding_transcript_exon_variant,,ENST00000518464,;DST,non_coding_transcript_exon_variant,,ENST00000482156,;DST,non_coding_transcript_exon_variant,,ENST00000466429,;	A	ENST00000312431	Transcript	missense_variant	16720/17756	16594/16614	5532/5537	D/Y	Gac/Tac		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1	tolerated(0.06)		95/95																			MODERATE	1	SNV	5			1										PASS		rs956139209	.												A	3	1	39	56459025	56459025	C	A	1	0	0	0	0	1	0	0	0	4604	855	30	2		2	DST	6	56459025	Missense_Mutation	SNP	C	C3N-00175_TP	1195234	56459025	114346954	561	10711											
DST	0	.	GRCh38	chr6	56632006	56632006	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgtttcgaacttcagaGatgtagagattataaactga	15	13	8	5	1	1	3	1	1	0	2	2	6	1	3	0	0	2	2	0	0	6	6	rs754052746		C3N-00175_TP	C3N-00175_NB	G	G																c.3327C>A	p.=	p.I1109I	ENST00000312431	26/95	182	131	51	207	207	0	strelka-varscan-mutect	DST,synonymous_variant,p.=,ENST00000361203,;DST,synonymous_variant,p.=,ENST00000421834,NM_183380.3;DST,synonymous_variant,p.=,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,synonymous_variant,p.=,ENST00000370788,;DST,synonymous_variant,p.=,ENST00000244364,NM_015548.4;DST,synonymous_variant,p.=,ENST00000439203,;DST,synonymous_variant,p.=,ENST00000370765,NM_001723.5;DST,synonymous_variant,p.=,ENST00000520645,;DST,synonymous_variant,p.=,ENST00000518935,;DST,upstream_gene_variant,,ENST00000522360,;	T	ENST00000312431	Transcript	synonymous_variant	3453/17756	3327/16614	1109/5537	I	atC/atA	rs754052746	1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1			26/95		hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915																	LOW	1	SNV	5			1										PASS		rs754052746	.												T	2	4	39	56632006	56632006	G	T	1	0	0	0	0	0	0	0	1	4604	932	33	2		2	DST	6	56632006	Silent	SNP	G	C3N-00175_TP	172981	56632006	114173973	562	10712											
DST	0	.	GRCh38	chr6	56639610	56639610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcttgattcctggatgtaTtctttagtaaggaaaatcat	11	17	8	5	0	3	1	1	1	2	0	4	3	4	3	1	2	0	3	1	2	5	8	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.2186A>G	p.Asn729Ser	p.N729S	ENST00000312431	18/95	285	253	32	408	408	0	strelka-varscan-mutect	DST,missense_variant,p.Asn689Ser,ENST00000361203,;DST,missense_variant,p.Asn689Ser,ENST00000421834,NM_183380.3;DST,missense_variant,p.Asn729Ser,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,missense_variant,p.Asn689Ser,ENST00000370788,;DST,missense_variant,p.Asn363Ser,ENST00000244364,NM_015548.4;DST,missense_variant,p.Asn363Ser,ENST00000439203,;DST,missense_variant,p.Asn363Ser,ENST00000370765,NM_001723.5;DST,missense_variant,p.Asn729Ser,ENST00000520645,;DST,missense_variant,p.Asn363Ser,ENST00000518935,;DST,downstream_gene_variant,,ENST00000449297,;DST,splice_region_variant,,ENST00000521104,;DST,splice_region_variant,,ENST00000523967,;DST,downstream_gene_variant,,ENST00000518828,;	C	ENST00000312431	Transcript	missense_variant,splice_region_variant	2312/17756	2186/16614	729/5537	N/S	aAt/aGt		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1	tolerated(0.19)		18/95		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	39	56639610	56639610	T	C	1	0	0	0	0	1	0	0	0	4604	1507	52	5		5	DST	6	56639610	Missense_Mutation	SNP	T	C3N-00175_TP	7604	56639610	114166369	563	10713											
EYS	0	.	GRCh38	chr6	64081934	64081934	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgttatgttccttctccaGgacaaacttcaaaaagggca	12	12	7	10	0	3	0	1	0	2	0	5	1	4	1	2	2	1	3	2	2	4	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.6493C>G	p.Leu2165Val	p.L2165V	ENST00000370621	32/44	87	79	8	182	182	0	strelka-varscan-mutect	EYS,missense_variant,p.Leu2165Val,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Leu2165Val,ENST00000370621,NM_001292009.1;	C	ENST00000370621	Transcript	missense_variant	7020/10485	6493/9498	2165/3165	L/V	Ctg/Gtg		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	tolerated(0.15)		32/44		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	64081934	64081934	G	C	1	0	0	0	0	1	0	0	0	5200	991	35	4		4	EYS	6	64081934	Missense_Mutation	SNP	G	C3N-00175_TP	7442324	64081934	106724045	564	10714											
EYS	0	.	GRCh38	chr6	64945852	64945852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaggattcattttacaCtcattggattcttgttcaca	10	17	6	8	0	4	0	3	0	1	0	4	2	4	2	0	2	2	2	0	2	2	8	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2322G>T	p.Glu774Asp	p.E774D	ENST00000370621	15/44	91	64	27	139	139	0	strelka-varscan-mutect	EYS,missense_variant,p.Glu774Asp,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Glu774Asp,ENST00000370621,NM_001292009.1;	A	ENST00000370621	Transcript	missense_variant	2849/10485	2322/9498	774/3165	E/D	gaG/gaT		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	tolerated(0.4)		15/44		Gene3D:2gy5A03,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	64945852	64945852	C	A	1	0	0	0	0	1	0	0	0	5200	564	20	2		2	EYS	6	64945852	Missense_Mutation	SNP	C	C3N-00175_TP	863918	64945852	105860127	565	10715											
RIMS1	0	.	GRCh38	chr6	72097125	72097125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcgcactaagttctgtgCgcgctgcggaggccgcgtgt	4	11	15	11	6	1	0	0	0	1	0	2	1	1	1	1	2	2	3	1	2	1	3	rs757314703		C3N-00175_TP	C3N-00175_NB	C	C																c.422C>A	p.Ala141Glu	p.A141E	ENST00000521978	3/34	299	210	89	363	363	0	strelka-varscan-mutect	RIMS1,missense_variant,p.Ala141Glu,ENST00000264839,;RIMS1,missense_variant,p.Ala141Glu,ENST00000521978,NM_014989.5;RIMS1,missense_variant,p.Ala141Glu,ENST00000491071,;RIMS1,missense_variant,p.Ala141Glu,ENST00000520567,;RIMS1,missense_variant,p.Ala141Glu,ENST00000517960,;RIMS1,missense_variant,p.Ala141Glu,ENST00000518273,;RIMS1,missense_variant,p.Ala141Glu,ENST00000522291,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;	A	ENST00000521978	Transcript	missense_variant	422/5079	422/5079	141/1692	A/E	gCg/gAg	rs757314703,COSM3358048	1		1	RIMS1	HGNC	HGNC:17282	protein_coding	YES	CCDS47449.1	ENSP00000428417	Q86UR5		UPI00001908FB	NM_014989.5	deleterious(0)		3/34		PROSITE_profiles:PS50178,PROSITE_profiles:PS50916,hmmpanther:PTHR12157:SF19,hmmpanther:PTHR12157,Gene3D:3.30.40.10,Pfam_domain:PF02318,Superfamily_domains:SSF57903											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs757314703	.												A	3	1	39	72097125	72097125	C	A	1	0	0	0	0	1	0	0	0	13542	768	27	1		1	RIMS1	6	72097125	Missense_Mutation	SNP	C	C3N-00175_TP	7151273	72097125	98708854	566	10716											
COL12A1	0	.	GRCh38	chr6	75089176	75089176	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttctctcctggcaaaccTaaggagggagaaaaagagaa	15	7	10	9	0	1	2	0	0	1	2	3	5	2	3	3	3	1	1	3	3	5	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.8942-2A>T		p.X2981_splice	ENST00000322507		113	81	32	129	129	0	strelka-varscan-mutect	COL12A1,splice_acceptor_variant,,ENST00000322507,NM_004370.5;COL12A1,splice_acceptor_variant,,ENST00000615798,;COL12A1,splice_acceptor_variant,,ENST00000483888,;COL12A1,splice_acceptor_variant,,ENST00000416123,;COL12A1,splice_acceptor_variant,,ENST00000345356,NM_080645.2;COL12A1,splice_acceptor_variant,,ENST00000425443,;COL12A1,splice_acceptor_variant,,ENST00000511023,;	A	ENST00000322507	Transcript	splice_acceptor_variant	-/11723	8942/9192	2981/3063				1		-1	COL12A1	HGNC	HGNC:2188	protein_coding	YES	CCDS43482.1	ENSP00000325146	Q99715		UPI000045890B	NM_004370.5				63/65																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	39	75089176	75089176	T	A	1	0	0	0	0	0	0	1	0	3457	1536	53	4		4	COL12A1	6	75089176	Splice_Site	SNP	T	C3N-00175_TP	2992051	75089176	95716803	567	10717											
BACH2	0	.	GRCh38	chr6	89951122	89951122	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgctcctggatctctccagGcaggcggccccagctggggc	5	6	14	16	2	1	0	0	0	1	0	4	1	3	1	4	6	1	3	4	6	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.984C>G	p.Cys328Trp	p.C328W	ENST00000257749	7/9	61	38	23	97	97	0	strelka-varscan-mutect	BACH2,missense_variant,p.Cys328Trp,ENST00000257749,NM_021813.3;BACH2,missense_variant,p.Cys328Trp,ENST00000537989,NM_001170794.1;BACH2,missense_variant,p.Cys328Trp,ENST00000343122,;RP3-512E2.2,intron_variant,,ENST00000445838,;RP3-512E2.2,intron_variant,,ENST00000413986,;	C	ENST00000257749	Transcript	missense_variant	1692/9113	984/2526	328/841	C/W	tgC/tgG		1		-1	BACH2	HGNC	HGNC:14078	protein_coding	YES	CCDS5026.1	ENSP00000257749	Q9BYV9		UPI000004F8AD	NM_021813.3	deleterious(0.03)		7/9																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	89951122	89951122	G	C	1	0	0	0	0	1	0	0	0	1442	1195	42	4		4	BACH2	6	89951122	Missense_Mutation	SNP	G	C3N-00175_TP	14861946	89951122	80854857	568	10718											
EPHA7	0	.	GRCh38	chr6	93410558	93410558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagatacattttccaatggGcactaaccattctccttctg	10	13	6	12	0	2	1	0	0	2	1	4	1	3	1	3	1	2	2	3	1	3	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.775C>G	p.Pro259Ala	p.P259A	ENST00000369303	3/17	97	64	33	142	142	0	strelka-varscan-mutect	EPHA7,missense_variant,p.Pro259Ala,ENST00000369303,NM_001288629.1,NM_004440.3;EPHA7,missense_variant,p.Pro259Ala,ENST00000369297,NM_001288630.1;	C	ENST00000369303	Transcript	missense_variant	960/6588	775/2997	259/998	P/A	Ccc/Gcc		1		-1	EPHA7	HGNC	HGNC:3390	protein_coding	YES	CCDS5031.1	ENSP00000358309	Q15375		UPI0000044771	NM_001288629.1,NM_004440.3	deleterious(0.03)		3/17		Gene3D:2gy5A03,PIRSF_domain:PIRSF000666,PROSITE_patterns:PS00791,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF377																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	93410558	93410558	G	C	1	0	0	0	0	1	0	0	0	5019	1203	42	4		4	EPHA7	6	93410558	Missense_Mutation	SNP	G	C3N-00175_TP	3459436	93410558	77395421	569	10719											
UFL1	0	.	GRCh38	chr6	96551513	96551513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataactctctgaatgaaaaGgtaagtaaagttttattcta	16	14	6	5	0	2	2	0	2	2	0	3	2	2	2	0	1	1	3	0	1	9	7	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1899G>T	p.Lys633Asn	p.K633N	ENST00000369278	16/19	17	9	8	58	58	0	strelka-varscan-mutect	UFL1,missense_variant,p.Lys633Asn,ENST00000369278,NM_015323.4;	T	ENST00000369278	Transcript	missense_variant,splice_region_variant	1965/4224	1899/2385	633/794	K/N	aaG/aaT		1		1	UFL1	HGNC	HGNC:23039	protein_coding	YES	CCDS5034.1	ENSP00000358283	O94874		UPI0000072D61	NM_015323.4	deleterious(0)		16/19		hmmpanther:PTHR31057,hmmpanther:PTHR31057:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	96551513	96551513	G	T	1	0	0	0	0	1	0	0	0	17460	1014	35	2		2	UFL1	6	96551513	Missense_Mutation	SNP	G	C3N-00175_TP	3140955	96551513	74254466	570	10720											
MMS22L	0	.	GRCh38	chr6	97254686	97254686	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcttcttcggtcacttgaTttttcaagcagtgttttaag	8	18	8	7	1	4	1	2	1	2	0	5	2	4	1	0	1	1	2	0	1	2	7	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.990A>G	p.=	p.K330K	ENST00000275053	10/25	91	84	7	159	159	0	strelka-varscan-mutect	MMS22L,synonymous_variant,p.=,ENST00000275053,NM_198468.2;MMS22L,synonymous_variant,p.=,ENST00000369251,;MMS22L,synonymous_variant,p.=,ENST00000510018,;MMS22L,synonymous_variant,p.=,ENST00000482634,;MMS22L,downstream_gene_variant,,ENST00000506256,;MMS22L,downstream_gene_variant,,ENST00000484170,;MMS22L,3_prime_UTR_variant,,ENST00000509383,;MMS22L,non_coding_transcript_exon_variant,,ENST00000508976,;MMS22L,downstream_gene_variant,,ENST00000511335,;	C	ENST00000275053	Transcript	synonymous_variant	1256/8643	990/3732	330/1243	K	aaA/aaG		1		-1	MMS22L	HGNC	HGNC:21475	protein_coding	YES	CCDS5039.1	ENSP00000275053	Q6ZRQ5		UPI00003673C9	NM_198468.2			10/25		Pfam_domain:PF14910,hmmpanther:PTHR28547																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	39	97254686	97254686	T	C	1	0	0	0	0	0	0	0	1	9636	1490	52	5		5	MMS22L	6	97254686	Silent	SNP	T	C3N-00175_TP	703173	97254686	73551293	571	10721											
SOBP	0	.	GRCh38	chr6	107634597	107634597	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggacactccctgtcccccCgggactccaagcagggctcg	6	5	12	18	3	0	0	0	0	0	0	4	2	3	2	5	3	1	2	5	3	1	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1753C>A	p.=	p.R585R	ENST00000317357	6/7	216	150	66	143	143	0	strelka-varscan-mutect	SOBP,synonymous_variant,p.=,ENST00000317357,NM_018013.3;SOBP,upstream_gene_variant,,ENST00000494935,;	A	ENST00000317357	Transcript	synonymous_variant	2412/5245	1753/2622	585/873	R	Cgg/Agg		1		1	SOBP	HGNC	HGNC:29256	protein_coding	YES	CCDS43488.1	ENSP00000318900	A7XYQ1		UPI0000E6A8ED	NM_018013.3			6/7		hmmpanther:PTHR23186:SF2,hmmpanther:PTHR23186																	LOW	1	SNV	5			1										PASS		rs1288652131	.												A	2	1	39	107634597	107634597	C	A	1	0	0	0	0	0	0	0	1	15233	643	23	1		1	SOBP	6	107634597	Silent	SNP	C	C3N-00175_TP	10379911	107634597	63171382	572	10722											
COL10A1	0	.	GRCh38	chr6	116121077	116121078	+	Frame_Shift_Ins	INS	-	-	T																															cccgggatgccttttggtccINSttggggtcccatattcccag																								novel		C3N-00175_TP	C3N-00175_NB	-	-																c.1038dupA	p.Gly347ArgfsTer8	p.G347Rfs*8	ENST00000327673	2/2	195	140	55	216	216	0	sindel-varindel-pindel	COL10A1,frameshift_variant,p.Gly347ArgfsTer8,ENST00000327673,;COL10A1,frameshift_variant,p.Gly347ArgfsTer8,ENST00000243222,NM_000493.3;NT5DC1,intron_variant,,ENST00000319550,NM_152729.2;NT5DC1,intron_variant,,ENST00000419791,;COL10A1,downstream_gene_variant,,ENST00000452729,;COL10A1,downstream_gene_variant,,ENST00000418500,;NT5DC1,intron_variant,,ENST00000460749,;NT5DC1,downstream_gene_variant,,ENST00000417846,;	T	ENST00000327673	Transcript	frameshift_variant	1446-1447/3498	1038-1039/2043	346-347/680	-/X	-/A		1		-1	COL10A1	HGNC	HGNC:2185	protein_coding	YES	CCDS5105.1	ENSP00000327368	Q03692		UPI0000126D28				2/2		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF570,Pfam_domain:PF01391																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	39	116121077	116121077	-	T	1	0	1	1	0	0	0	0	0	3454	690	24	0		0	COL10A1	6	116121077	Frame_Shift_Ins	INS	-	C3N-00175_TP	8486480	116121077	54684902	573	10723											
RFX6	0	.	GRCh38	chr6	116910970	116910970	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatattcgcttagctcaaaAactggaacacttcttccaga	15	11	5	10	1	2	1	1	0	1	1	4	2	3	2	1	1	3	2	1	1	6	5	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.708A>T	p.Lys236Asn	p.K236N	ENST00000332958	7/19	155	119	36	267	267	0	strelka-varscan-mutect	RFX6,missense_variant,p.Lys236Asn,ENST00000332958,NM_173560.3;RFX6,non_coding_transcript_exon_variant,,ENST00000471966,;RFX6,non_coding_transcript_exon_variant,,ENST00000487683,;	T	ENST00000332958	Transcript	missense_variant	724/3460	708/2787	236/928	K/N	aaA/aaT		1		1	RFX6	HGNC	HGNC:21478	protein_coding	YES	CCDS5113.1	ENSP00000332208	Q8HWS3		UPI00001609BE	NM_173560.3	deleterious(0.03)		7/19		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	116910970	116910970	A	T	1	0	0	0	0	1	0	0	0	13441	11	1	4		4	RFX6	6	116910970	Missense_Mutation	SNP	A	C3N-00175_TP	789893	116910970	53895009	574	10724											
RFX6	0	.	GRCh38	chr6	116911034	116911034	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tataccaaggatgcatttctAaggacaaggtatcaattaca	16	11	7	7	0	2	0	1	0	1	0	2	2	2	2	1	3	3	2	1	3	8	6	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.772A>T	p.Lys258Ter	p.K258*	ENST00000332958	7/19	126	116	10	194	193	1	strelka-varscan-mutect	RFX6,stop_gained,p.Lys258Ter,ENST00000332958,NM_173560.3;RFX6,non_coding_transcript_exon_variant,,ENST00000471966,;RFX6,non_coding_transcript_exon_variant,,ENST00000487683,;	T	ENST00000332958	Transcript	stop_gained	788/3460	772/2787	258/928	K/*	Aag/Tag		1		1	RFX6	HGNC	HGNC:21478	protein_coding	YES	CCDS5113.1	ENSP00000332208	Q8HWS3		UPI00001609BE	NM_173560.3			7/19		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF28																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	39	116911034	116911034	A	T	1	0	0	0	0	0	1	0	0	13441	363	13	4		4	RFX6	6	116911034	Nonsense_Mutation	SNP	A	C3N-00175_TP	64	116911034	53894945	575	10725											
SMPDL3A	0	.	GRCh38	chr6	122795784	122795784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaaatgcctccaaccctGgcccttttggagatgttctg	7	12	10	12	0	1	1	0	0	1	1	2	2	2	1	4	2	3	2	4	2	2	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.220G>C	p.Gly74Arg	p.G74R	ENST00000368440	2/8	250	173	77	330	330	0	strelka-varscan-mutect	SMPDL3A,missense_variant,p.Gly74Arg,ENST00000368440,NM_006714.4;SMPDL3A,intron_variant,,ENST00000539041,NM_001286138.1;SMPDL3A,non_coding_transcript_exon_variant,,ENST00000487215,;	C	ENST00000368440	Transcript	missense_variant	397/1851	220/1362	74/453	G/R	Ggc/Cgc		1		1	SMPDL3A	HGNC	HGNC:17389	protein_coding	YES	CCDS5128.1	ENSP00000357425	Q92484		UPI00000701D1	NM_006714.4	deleterious(0)		2/8		hmmpanther:PTHR10340:SF24,hmmpanther:PTHR10340,Pfam_domain:PF00149,PIRSF_domain:PIRSF036767,Gene3D:3.60.21.10,Superfamily_domains:SSF56300																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	122795784	122795784	G	C	1	0	0	0	0	1	0	0	0	15129	1348	47	4		4	SMPDL3A	6	122795784	Missense_Mutation	SNP	G	C3N-00175_TP	5884750	122795784	48010195	576	10726											
TRDN	0	.	GRCh38	chr6	123267716	123267716	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtaaaatacctgtttttaTagatggaggttctctttctc	9	18	8	6	0	2	1	0	0	2	1	4	2	2	2	1	3	1	3	1	3	5	8	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1774A>T	p.Ile592Leu	p.I592L	ENST00000334268	32/41	39	34	5	108	107	1	strelka-varscan-mutect	TRDN,missense_variant,p.Ile592Leu,ENST00000334268,NM_006073.3;	A	ENST00000334268	Transcript	missense_variant	2092/4770	1774/2190	592/729	I/L	Ata/Tta		1		-1	TRDN	HGNC	HGNC:12261	protein_coding	YES	CCDS55053.1	ENSP00000333984	Q13061		UPI0000D820CC	NM_006073.3	tolerated_low_confidence(0.13)		32/41		Low_complexity_(Seg):seg,hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0																	MODERATE	1	SNV	1			1										PASS		rs1395576684	.												A	3	1	39	123267716	123267716	T	A	1	0	0	0	0	1	0	0	0	16957	1406	49	4		4	TRDN	6	123267716	Missense_Mutation	SNP	T	C3N-00175_TP	471932	123267716	47538263	577	10727											
EPB41L2	0	.	GRCh38	chr6	130956349	130956349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcaggaggtggctgggaaCctttttcctcctctggatcg	5	12	13	11	1	1	0	0	0	1	0	4	3	3	3	3	5	2	2	3	5	1	2	rs769262800		C3N-00175_TP	C3N-00175_NB	C	C																c.137G>T	p.Gly46Val	p.G46V	ENST00000337057	2/20	218	166	52	325	325	0	strelka-varscan-mutect	EPB41L2,missense_variant,p.Gly46Val,ENST00000337057,NM_001431.3;EPB41L2,missense_variant,p.Gly46Val,ENST00000368128,;EPB41L2,missense_variant,p.Gly46Val,ENST00000628542,;EPB41L2,missense_variant,p.Gly46Val,ENST00000527411,;EPB41L2,missense_variant,p.Gly46Val,ENST00000530481,NM_001199388.2;EPB41L2,missense_variant,p.Gly46Val,ENST00000445890,;EPB41L2,missense_variant,p.Gly46Val,ENST00000528282,NM_001252660.1;EPB41L2,missense_variant,p.Gly46Val,ENST00000392427,NM_001135554.1,NM_001135555.3;EPB41L2,missense_variant,p.Gly46Val,ENST00000529208,;EPB41L2,missense_variant,p.Gly46Val,ENST00000525271,;EPB41L2,missense_variant,p.Gly46Val,ENST00000527659,;EPB41L2,missense_variant,p.Gly46Val,ENST00000525193,;EPB41L2,missense_variant,p.Gly46Val,ENST00000532499,;EPB41L2,missense_variant,p.Gly46Val,ENST00000531356,;EPB41L2,missense_variant,p.Gly46Val,ENST00000529709,;EPB41L2,missense_variant,p.Gly46Val,ENST00000530707,;EPB41L2,missense_variant,p.Gly46Val,ENST00000526983,;EPB41L2,intron_variant,,ENST00000530148,;EPB41L2,intron_variant,,ENST00000528179,;EPB41L2,intron_variant,,ENST00000526333,;	A	ENST00000337057	Transcript	missense_variant	319/4457	137/3018	46/1005	G/V	gGt/gTt	rs769262800	1		-1	EPB41L2	HGNC	HGNC:3379	protein_coding	YES	CCDS5141.1	ENSP00000338481	O43491		UPI0000129AF9	NM_001431.3	tolerated(0.2)		2/20		PIRSF_domain:PIRSF002304																	MODERATE	1	SNV	1			1										PASS		rs769262800	.												A	3	1	39	130956349	130956349	C	A	1	0	0	0	0	1	0	0	0	5000	507	18	2		2	EPB41L2	6	130956349	Missense_Mutation	SNP	C	C3N-00175_TP	7688633	130956349	39849630	578	10728											
TAAR5	0	.	GRCh38	chr6	132588815	132588815	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgaagtaagcaaaccagAtaaagatgtcaaagaccagt	19	7	9	6	0	1	4	1	1	0	3	1	4	1	4	2	0	2	3	2	0	6	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.872T>A	p.Ile291Asn	p.I291N	ENST00000258034	1/1	209	178	31	296	296	0	strelka-varscan-mutect	TAAR5,missense_variant,p.Ile291Asn,ENST00000258034,NM_003967.2;	T	ENST00000258034	Transcript	missense_variant	872/1014	872/1014	291/337	I/N	aTc/aAc		1		-1	TAAR5	HGNC	HGNC:30236	protein_coding	YES	CCDS5156.1	ENSP00000258034	O14804		UPI000013CFAA	NM_003967.2	tolerated(0.05)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF78,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	39	132588815	132588815	A	T	1	0	0	0	0	1	0	0	0	15887	333	12	4		4	TAAR5	6	132588815	Missense_Mutation	SNP	A	C3N-00175_TP	1632466	132588815	38217164	579	10729											
UTRN	0	.	GRCh38	chr6	144473801	144473801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcccaaggagacgacGcaggtctacagaggcagtta	12	5	14	10	2	1	2	0	0	1	2	1	4	1	2	1	4	2	4	1	4	3	2	rs748671773		C3N-00175_TP	C3N-00175_NB	G	G																c.3148G>A	p.Ala1050Thr	p.A1050T	ENST00000367545	23/74	109	68	41	175	175	0	strelka-varscan-mutect	UTRN,missense_variant,p.Ala1050Thr,ENST00000367545,NM_007124.2;	A	ENST00000367545	Transcript	missense_variant	3148/12339	3148/10302	1050/3433	A/T	Gca/Aca	rs748671773,COSM3017294	1		1	UTRN	HGNC	HGNC:12635	protein_coding	YES	CCDS34547.1	ENSP00000356515	P46939		UPI00003673F1	NM_007124.2	deleterious(0.04)		23/74		Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF225,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs748671773	.												A	3	1	39	144473801	144473801	G	A	1	0	0	0	0	1	0	0	0	17647	1087	38	1		1	UTRN	6	144473801	Missense_Mutation	SNP	G	C3N-00175_TP	11884986	144473801	26332178	580	10730											
STXBP5	0	.	GRCh38	chr6	147314271	147314271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttttttataggaatggcCcatcaacggaggtaattggg	10	14	11	6	1	2	0	1	0	1	0	2	2	2	2	1	5	1	1	1	5	5	7	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1301C>T	p.Pro434Leu	p.P434L	ENST00000321680	13/28	183	141	42	201	201	0	strelka-varscan-mutect	STXBP5,missense_variant,p.Pro434Leu,ENST00000367481,NM_139244.4;STXBP5,missense_variant,p.Pro434Leu,ENST00000321680,NM_001127715.2;STXBP5,missense_variant,p.Pro434Leu,ENST00000367480,;	T	ENST00000321680	Transcript	missense_variant	1301/3456	1301/3456	434/1151	P/L	cCc/cTc		1		1	STXBP5	HGNC	HGNC:19665	protein_coding	YES	CCDS47499.1	ENSP00000321826	Q5T5C0		UPI0000199FE0	NM_001127715.2	deleterious(0)		13/28		hmmpanther:PTHR10241:SF22,hmmpanther:PTHR10241,SMART_domains:SM00320																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	147314271	147314271	C	T	1	0	0	0	0	1	0	0	0	15740	623	22	3		3	STXBP5	6	147314271	Missense_Mutation	SNP	C	C3N-00175_TP	2840470	147314271	23491708	581	10731											
SYNE1	0	.	GRCh38	chr6	152331340	152331340	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctcggacaaggctttgtTtaagtactttcttcgctggc	6	17	9	9	2	2	0	0	0	2	0	4	1	2	1	0	3	1	4	0	3	3	7	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.13345A>T	p.Asn4449Tyr	p.N4449Y	ENST00000367255	78/146	191	132	59	265	264	1	strelka-varscan-mutect	SYNE1,missense_variant,p.Asn4449Tyr,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Asn4378Tyr,ENST00000423061,NM_033071.3;SYNE1,splice_region_variant,,ENST00000341594,;SYNE1,5_prime_UTR_variant,,ENST00000448038,;SYNE1,non_coding_transcript_exon_variant,,ENST00000490135,;SYNE1,downstream_gene_variant,,ENST00000471834,;	A	ENST00000367255	Transcript	missense_variant	13947/27748	13345/26394	4449/8797	N/Y	Aac/Tac		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			78/146		Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	152331340	152331340	T	A	1	0	0	0	0	1	0	0	0	15837	1841	64	4		4	SYNE1	6	152331340	Missense_Mutation	SNP	T	C3N-00175_TP	5017069	152331340	18474639	582	10732											
TIAM2	0	.	GRCh38	chr6	155179114	155179114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaatgttgagtattgcatcCctgcaccatatgaatatatg	13	13	7	8	0	0	2	0	2	0	0	1	2	1	2	2	0	2	4	2	0	6	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2599C>A	p.Pro867Thr	p.P867T	ENST00000461783	13/29	119	88	31	151	151	0	strelka-varscan-mutect	TIAM2,missense_variant,p.Pro867Thr,ENST00000461783,;TIAM2,missense_variant,p.Pro867Thr,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Pro891Thr,ENST00000360366,;TIAM2,missense_variant,p.Pro867Thr,ENST00000529824,;TIAM2,missense_variant,p.Pro867Thr,ENST00000528535,;TIAM2,missense_variant,p.Pro203Thr,ENST00000528391,;TIAM2,missense_variant,p.Pro179Thr,ENST00000456877,;TIAM2,upstream_gene_variant,,ENST00000543712,;	A	ENST00000461783	Transcript	missense_variant	3872/6981	2599/5106	867/1701	P/T	Cct/Act		1		1	TIAM2	HGNC	HGNC:11806	protein_coding	YES	CCDS34558.1	ENSP00000437188	Q8IVF5		UPI00004DF8BE		deleterious(0.01)		13/29		PROSITE_profiles:PS50898,SMART_domains:SM00455,Superfamily_domains:SSF50156																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	155179114	155179114	C	A	1	0	0	0	0	1	0	0	0	16325	623	22	2		2	TIAM2	6	155179114	Missense_Mutation	SNP	C	C3N-00175_TP	2847774	155179114	15626865	583	10733											
TULP4	0	.	GRCh38	chr6	158502309	158502309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagtgcactaccagaccccCctgggctatgagaggatcac	10	7	10	14	0	2	2	2	1	0	2	2	4	2	3	4	2	2	2	4	2	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2646C>T	p.=	p.P882P	ENST00000367097	13/14	101	73	28	162	162	0	strelka-varscan-mutect	TULP4,synonymous_variant,p.=,ENST00000367097,NM_020245.4;TULP4,intron_variant,,ENST00000367094,NM_001007466.2;TULP4,downstream_gene_variant,,ENST00000613390,;	T	ENST00000367097	Transcript	synonymous_variant	4175/11295	2646/4632	882/1543	P	ccC/ccT		1		1	TULP4	HGNC	HGNC:15530	protein_coding	YES	CCDS34561.1	ENSP00000356064	Q9NRJ4		UPI000013CD76	NM_020245.4			13/14		hmmpanther:PTHR16517:SF33,hmmpanther:PTHR16517																	LOW	1	SNV	1			1										PASS		rs1255350529	.												T	2	4	39	158502309	158502309	C	T	1	0	0	0	0	0	0	0	1	17286	610	22	3		3	TULP4	6	158502309	Silent	SNP	C	C3N-00175_TP	3323195	158502309	12303670	584	10734											
PLG	0	.	GRCh38	chr6	160731099	160731099	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgccgataaaggcccCtggtgttttaccacagaccc	10	8	9	14	1	0	2	0	0	0	2	0	3	0	2	6	2	2	1	6	2	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1305C>A	p.=	p.P435P	ENST00000308192	11/19	189	134	55	227	226	1	strelka-varscan-mutect	PLG,synonymous_variant,p.=,ENST00000308192,NM_000301.3;PLG,non_coding_transcript_exon_variant,,ENST00000297289,;PLG,non_coding_transcript_exon_variant,,ENST00000493435,;	A	ENST00000308192	Transcript	synonymous_variant	1368/2741	1305/2433	435/810	P	ccC/ccA		1		1	PLG	HGNC	HGNC:9071	protein_coding	YES	CCDS5279.1	ENSP00000308938	P00747		UPI000000D8B8	NM_000301.3			11/19		Gene3D:2.40.20.10,Pfam_domain:PF00051,PIRSF_domain:PIRSF001150,Prints_domain:PR00018,PROSITE_patterns:PS00021,PROSITE_profiles:PS50070,hmmpanther:PTHR24261,hmmpanther:PTHR24261:SF2,SMART_domains:SM00130,Superfamily_domains:SSF57440																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	160731099	160731099	C	A	1	0	0	0	0	0	0	0	1	12181	668	24	2		2	PLG	6	160731099	Silent	SNP	C	C3N-00175_TP	2228790	160731099	10074880	585	10735											
T	0	.	GRCh38	chr6	166164826	166164826	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcatcaaggaaagctttTgcaaatggattgtacttaat	13	15	8	5	0	1	0	1	0	0	0	1	2	1	2	0	2	4	4	0	2	5	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.642A>G	p.=	p.A214A	ENST00000296946	5/9	99	61	38	241	241	0	strelka-varscan-mutect	T,synonymous_variant,p.=,ENST00000296946,NM_003181.3;T,synonymous_variant,p.=,ENST00000366871,NM_001270484.1;T,synonymous_variant,p.=,ENST00000366876,;T,synonymous_variant,p.=,ENST00000461348,;	C	ENST00000296946	Transcript	synonymous_variant	1111/2436	642/1308	214/435	A	gcA/gcG		1		-1	T	HGNC	HGNC:11515	protein_coding	YES	CCDS5290.1	ENSP00000296946	O15178		UPI0000126AB5	NM_003181.3			5/9		Gene3D:1h6fA00,Pfam_domain:PF00907,Prints_domain:PR00937,PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF83,SMART_domains:SM00425,Superfamily_domains:SSF49417																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	39	166164826	166164826	T	C	1	0	0	0	0	0	0	0	1	15884	1799	63	5		5	T	6	166164826	Silent	SNP	T	C3N-00175_TP	5433727	166164826	4641153	586	10736											
UNC93A	0	.	GRCh38	chr6	167304091	167304091	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaattctgctgccgctgtaCagtggattgcagcaaggatt	9	13	11	8	1	1	0	0	0	1	0	1	2	1	2	1	2	5	5	1	2	3	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.798C>A	p.Tyr266Ter	p.Y266*	ENST00000230256	5/8	223	168	55	264	263	1	strelka-varscan-mutect	UNC93A,stop_gained,p.Tyr266Ter,ENST00000230256,NM_018974.3;UNC93A,stop_gained,p.Tyr224Ter,ENST00000366829,NM_001143947.1;	A	ENST00000230256	Transcript	stop_gained	973/2116	798/1374	266/457	Y/*	taC/taA		1		1	UNC93A	HGNC	HGNC:12570	protein_coding	YES	CCDS5300.1	ENSP00000230256	Q86WB7		UPI0000062351	NM_018974.3			5/8		Gene3D:1.20.1250.20,hmmpanther:PTHR19444,hmmpanther:PTHR19444:SF14,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	167304091	167304091	C	A	1	0	0	0	0	0	1	0	0	17522	489	17	2		2	UNC93A	6	167304091	Nonsense_Mutation	SNP	C	C3N-00175_TP	1139265	167304091	3501888	587	10737											
GRID2IP	0	.	GRCh38	chr7	6509203	6509203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggctggcgtaggggtGggactcagagctgctggggg	5	7	21	8	1	1	1	1	0	0	1	2	2	2	2	1	7	2	4	1	7	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1882C>A	p.His628Asn	p.H628N	ENST00000457091	12/22	38	28	10	43	43	0	strelka-varscan-mutect	GRID2IP,missense_variant,p.His628Asn,ENST00000457091,NM_001145118.1;GRID2IP,missense_variant,p.His437Asn,ENST00000452113,;GRID2IP,missense_variant,p.His444Asn,ENST00000435185,;	T	ENST00000457091	Transcript	missense_variant	1882/3636	1882/3636	628/1211	H/N	Cac/Aac		1		-1	GRID2IP	HGNC	HGNC:18464	protein_coding	YES	CCDS47537.1	ENSP00000397351	A4D2P6		UPI0001722D0B	NM_001145118.1	tolerated(1)		12/22		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF242,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	6509203	6509203	G	T	1	0	0	0	0	1	0	0	0	6653	1348	47	2		2	GRID2IP	7	6509203	Missense_Mutation	SNP	G	C3N-00175_TP		6509203	152836770	588	10738											
GRID2IP	0	.	GRCh38	chr7	6521469	6521469	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctccaccaccagcgtGggcatggcaccactgccctg	6	7	9	19	1	0	0	0	0	0	0	2	0	2	0	7	2	2	2	7	2	0	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1044C>A	p.=	p.P348P	ENST00000457091	6/22	73	58	15	87	87	0	strelka-varscan-mutect	GRID2IP,synonymous_variant,p.=,ENST00000457091,NM_001145118.1;GRID2IP,synonymous_variant,p.=,ENST00000452113,;GRID2IP,synonymous_variant,p.=,ENST00000435185,;	T	ENST00000457091	Transcript	synonymous_variant	1044/3636	1044/3636	348/1211	P	ccC/ccA		1		-1	GRID2IP	HGNC	HGNC:18464	protein_coding	YES	CCDS47537.1	ENSP00000397351	A4D2P6		UPI0001722D0B	NM_001145118.1			6/22		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF242,SMART_domains:SM00228,Superfamily_domains:SSF50156																	LOW	1	SNV	5			1										PASS		rs1326286420	.												T	2	4	39	6521469	6521469	G	T	1	0	0	0	0	0	0	0	1	6653	1335	47	2		2	GRID2IP	7	6521469	Silent	SNP	G	C3N-00175_TP	12266	6521469	152824504	589	10739											
RPA3	0	.	GRCh38	chr7	7640334	7640334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaccttttccagcctccCtacgaagcagacaggcttgt	9	9	8	15	1	0	1	0	0	0	1	2	2	2	1	4	1	3	3	4	1	2	4	rs758879887		C3N-00175_TP	C3N-00175_NB	C	C																c.85G>A	p.Gly29Arg	p.G29R	ENST00000223129	5/8	390	314	76	320	320	0	strelka-varscan-mutect	RPA3,missense_variant,p.Gly29Arg,ENST00000223129,NM_002947.3;RPA3,missense_variant,p.Gly29Arg,ENST00000396682,;RPA3,intron_variant,,ENST00000406109,;UMAD1,upstream_gene_variant,,ENST00000636849,NM_001302348.1,NM_001302349.1;UMAD1,upstream_gene_variant,,ENST00000482067,;UMAD1,upstream_gene_variant,,ENST00000463725,;RPA3,upstream_gene_variant,,ENST00000401447,;RP11-505D17.1,upstream_gene_variant,,ENST00000469183,;UMAD1,upstream_gene_variant,,ENST00000493246,;UMAD1,upstream_gene_variant,,ENST00000471760,;RPA3,non_coding_transcript_exon_variant,,ENST00000462723,;RPA3,intron_variant,,ENST00000463632,;RPA3,upstream_gene_variant,,ENST00000483031,;	T	ENST00000223129	Transcript	missense_variant	1257/2020	85/366	29/121	G/R	Ggg/Agg	rs758879887	1		-1	RPA3	HGNC	HGNC:10291	protein_coding	YES	CCDS5356.1	ENSP00000223129	P35244	A4D105	UPI00001122E6	NM_002947.3	deleterious(0)		5/8		hmmpanther:PTHR15114:SF1,hmmpanther:PTHR15114,Gene3D:2.40.50.140,Pfam_domain:PF08661,Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1										PASS		rs758879887	.												T	3	4	39	7640334	7640334	C	T	1	0	0	0	0	1	0	0	0	13790	681	24	3		3	RPA3	7	7640334	Missense_Mutation	SNP	C	C3N-00175_TP	1118865	7640334	151705639	590	10740											
LRRC72	0	.	GRCh38	chr7	16526965	16526965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtcctgatgtcctgggacCcgaaccccgtgccccgtacc	5	8	11	17	3	0	1	0	1	0	0	2	3	2	2	8	1	3	1	8	1	2	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.13C>A	p.Pro5Thr	p.P5T	ENST00000401542	1/9	166	138	28	201	201	0	strelka-mutect	LRRC72,missense_variant,p.Pro5Thr,ENST00000401542,NM_001195280.1;SOSTDC1,intron_variant,,ENST00000396652,;LRRC72,non_coding_transcript_exon_variant,,ENST00000482711,;LRRC72,missense_variant,p.Pro5Thr,ENST00000382124,;	A	ENST00000401542	Transcript	missense_variant	70/1000	13/864	5/287	P/T	Ccg/Acg		1		1	LRRC72	HGNC	HGNC:42972	protein_coding	YES	CCDS56464.1	ENSP00000384971	A6NJI9		UPI000173A227	NM_001195280.1	deleterious_low_confidence(0.04)		1/9																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	16526965	16526965	C	A	1	0	0	0	0	1	0	0	0	8919	623	22	2		2	LRRC72	7	16526965	Missense_Mutation	SNP	C	C3N-00175_TP	8886631	16526965	142819008	591	10741											
ABCB5	0	.	GRCh38	chr7	20651619	20651619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttatcatggagtttcCtaatgtgagtacactgtgca	10	16	9	6	0	1	2	1	2	0	0	2	3	2	3	1	1	2	3	1	1	3	5			C3N-00175_TP	C3N-00175_NB	C	C																c.1532C>T	p.Pro511Leu	p.P511L	ENST00000404938	13/28	145	94	51	112	112	0	strelka-varscan-mutect	ABCB5,missense_variant,p.Pro511Leu,ENST00000404938,NM_001163941.1;ABCB5,missense_variant,p.Pro66Leu,ENST00000258738,NM_178559.5;ABCB5,missense_variant,p.Pro66Leu,ENST00000443026,NM_001163942.1;ABCB5,missense_variant,p.Pro66Leu,ENST00000406935,NM_001163993.2;ABCB5,non_coding_transcript_exon_variant,,ENST00000477094,;	T	ENST00000404938	Transcript	missense_variant	2184/5811	1532/3774	511/1257	P/L	cCt/cTt	COSM1134283,COSM452830,COSM452831	1		1	ABCB5	HGNC	HGNC:46	protein_coding	YES	CCDS55090.1	ENSP00000384881	Q2M3G0		UPI000173A253	NM_001163941.1	deleterious(0.01)		13/28		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,SMART_domains:SM00382,Superfamily_domains:SSF52540											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	39	20651619	20651619	C	T	1	0	0	0	0	1	0	0	0	48	695	24	3		3	ABCB5	7	20651619	Missense_Mutation	SNP	C	C3N-00175_TP	4124654	20651619	138694354	592	10742											
DNAH11	0	.	GRCh38	chr7	21655847	21655847	+	Frame_Shift_Del	DEL	G	G	-																															tttaggtaacatgtcaccttGccaaacttttcgacagcatt																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.4960delG	p.Ala1654ProfsTer65	p.A1654Pfs*65	ENST00000409508	29/82	126	92	34	101	101	0	sindel-pindel	DNAH11,frameshift_variant,p.Ala1654ProfsTer65,ENST00000409508,NM_001277115.1;DNAH11,frameshift_variant,p.Ala1659ProfsTer65,ENST00000328843,;DNAH11,frameshift_variant,p.Ala1659ProfsTer65,ENST00000620169,;	-	ENST00000409508	Transcript	frameshift_variant	4991/14167	4960/13551	1654/4516	A/X	Gcc/cc		1		1	DNAH11	HGNC	HGNC:2942	protein_coding	YES	CCDS64602.1	ENSP00000475939	Q96DT5		UPI0002B8CE70	NM_001277115.1			29/82		hmmpanther:PTHR10676:SF263,hmmpanther:PTHR10676,Pfam_domain:PF08393																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	39	21655847	21655847	G	-	1	0	1	0	1	0	0	0	0	4413	1319	46	0		0	DNAH11	7	21655847	Frame_Shift_Del	DEL	G	C3N-00175_TP	1004228	21655847	137690126	593	10743											
DNAH11	0	.	GRCh38	chr7	21710581	21710581	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcttattttataggtctcTtctcatccattctacgagaa	10	17	4	10	1	4	1	1	0	4	1	7	2	5	1	1	1	1	0	1	1	5	7	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.6712T>C	p.Phe2238Leu	p.F2238L	ENST00000409508	41/82	171	121	50	195	195	0	strelka-varscan-mutect	DNAH11,missense_variant,p.Phe2238Leu,ENST00000409508,NM_001277115.1;DNAH11,missense_variant,p.Phe2245Leu,ENST00000328843,;DNAH11,missense_variant,p.Phe2245Leu,ENST00000620169,;	C	ENST00000409508	Transcript	missense_variant	6743/14167	6712/13551	2238/4516	F/L	Ttc/Ctc		1		1	DNAH11	HGNC	HGNC:2942	protein_coding	YES	CCDS64602.1	ENSP00000475939	Q96DT5		UPI0002B8CE70	NM_001277115.1	tolerated(0.19)		41/82		hmmpanther:PTHR10676:SF263,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF07728,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		rs1375628599	.												C	3	2	39	21710581	21710581	T	C	1	0	0	0	0	1	0	0	0	4413	1609	56	5		5	DNAH11	7	21710581	Missense_Mutation	SNP	T	C3N-00175_TP	54734	21710581	137635392	594	10744											
DNAH11	0	.	GRCh38	chr7	21750301	21750301	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagttcatgctctgggCatggtagactccagggaaaa	13	9	12	7	0	2	2	1	1	1	1	3	3	3	3	1	3	1	4	1	3	5	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.8877C>A	p.=	p.G2959G	ENST00000409508	54/82	290	207	83	255	255	0	strelka-varscan-mutect	DNAH11,synonymous_variant,p.=,ENST00000409508,NM_001277115.1;DNAH11,synonymous_variant,p.=,ENST00000328843,;DNAH11,synonymous_variant,p.=,ENST00000620169,;	A	ENST00000409508	Transcript	synonymous_variant	8908/14167	8877/13551	2959/4516	G	ggC/ggA		1		1	DNAH11	HGNC	HGNC:2942	protein_coding	YES	CCDS64602.1	ENSP00000475939	Q96DT5		UPI0002B8CE70	NM_001277115.1			54/82		hmmpanther:PTHR10676:SF263,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF12780,SMART_domains:SM00382																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	39	21750301	21750301	C	A	1	0	0	0	0	0	0	0	1	4413	697	25	2		2	DNAH11	7	21750301	Silent	SNP	C	C3N-00175_TP	39720	21750301	137595672	595	10745											
HOXA1	0	.	GRCh38	chr7	27095726	27095726	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggtggtggtggggcgAaccgatctgcacccccctgc	4	8	17	12	2	1	0	0	0	1	0	1	2	1	0	4	6	3	1	4	6	1	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.187T>A	p.Ser63Thr	p.S63T	ENST00000343060	1/2	167	146	21	155	155	0	strelka-mutect	HOXA1,missense_variant,p.Ser63Thr,ENST00000343060,NM_005522.4;HOXA1,missense_variant,p.Ser63Thr,ENST00000355633,NM_153620.2;HOXA2,downstream_gene_variant,,ENST00000222718,NM_006735.3;HOTAIRM1,intron_variant,,ENST00000495032,;HOTAIRM1,upstream_gene_variant,,ENST00000428939,;HOTAIRM1,upstream_gene_variant,,ENST00000429611,;HOTAIRM1,upstream_gene_variant,,ENST00000434063,;HOTAIRM1,upstream_gene_variant,,ENST00000593300,;HOTAIRM1,upstream_gene_variant,,ENST00000425358,;HOTAIRM1_2,upstream_gene_variant,,ENST00000616712,;HOTAIRM1_5,upstream_gene_variant,,ENST00000619311,;HOTAIRM1_1,upstream_gene_variant,,ENST00000622675,;HOTAIRM1_4,upstream_gene_variant,,ENST00000617934,;HOTAIRM1_3,upstream_gene_variant,,ENST00000619974,;HOXA2,downstream_gene_variant,,ENST00000612779,;	T	ENST00000343060	Transcript	missense_variant	249/2517	187/1008	63/335	S/T	Tcg/Acg		1		-1	HOXA1	HGNC	HGNC:5099	protein_coding	YES	CCDS5401.1	ENSP00000343246	P49639		UPI000013C80E	NM_005522.4	tolerated(0.64)		1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF158																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	27095726	27095726	A	T	1	0	0	0	0	1	0	0	0	7182	246	9	4		4	HOXA1	7	27095726	Missense_Mutation	SNP	A	C3N-00175_TP	5345425	27095726	132250247	596	10746											
HOXA5	0	.	GRCh38	chr7	27143116	27143116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcgccgggctcggctcGctctgcgcactcgcctgctc	1	7	15	18	7	1	0	0	0	1	0	5	0	1	0	2	4	2	5	2	4	0	0			C3N-00175_TP	C3N-00175_NB	G	G																c.492C>A	p.Ser164Arg	p.S164R	ENST00000222726	1/2	79	46	33	80	80	0	strelka-varscan-mutect	HOXA5,missense_variant,p.Ser164Arg,ENST00000222726,NM_019102.3;HOXA3,upstream_gene_variant,,ENST00000317201,;HOXA6,downstream_gene_variant,,ENST00000222728,NM_024014.3;HOXA3,upstream_gene_variant,,ENST00000522788,;HOXA-AS3,intron_variant,,ENST00000521197,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS3,upstream_gene_variant,,ENST00000518947,;HOXA-AS3,upstream_gene_variant,,ENST00000521231,;RP1-170O19.22,intron_variant,,ENST00000467897,;HOXA3,intron_variant,,ENST00000518451,;HOXA6,downstream_gene_variant,,ENST00000521478,;HOXA3,upstream_gene_variant,,ENST00000521401,;RP1-170O19.23,downstream_gene_variant,,ENST00000498652,;HOXA5,upstream_gene_variant,,ENST00000520854,;	T	ENST00000222726	Transcript	missense_variant	553/1657	492/813	164/270	S/R	agC/agA	COSM452918	1		-1	HOXA5	HGNC	HGNC:5106	protein_coding	YES	CCDS5406.1	ENSP00000222726	P20719		UPI000006CEBE	NM_019102.3	tolerated(0.37)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF165,hmmpanther:PTHR24326											1						MODERATE	1	SNV	1		1	1										PASS		rs965111568	.												T	3	4	39	27143116	27143116	G	T	1	0	0	0	0	1	0	0	0	7189	1078	38	1		1	HOXA5	7	27143116	Missense_Mutation	SNP	G	C3N-00175_TP	47390	27143116	132202857	597	10747											
HOXA9	0	.	GRCh38	chr7	27165274	27165274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttccacgaggcgccaaacaCcgtcgccttggactggaagc	9	6	12	14	4	0	0	0	0	0	0	2	3	1	2	4	3	2	1	4	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.184G>T	p.Val62Leu	p.V62L	ENST00000343483	1/2	71	58	13	105	105	0	strelka-varscan-mutect	HOXA9,missense_variant,p.Val62Leu,ENST00000343483,NM_152739.3;HOXA9,missense_variant,p.Val62Leu,ENST00000396345,;HOXA10-HOXA9,intron_variant,,ENST00000470747,;HOXA9,downstream_gene_variant,,ENST00000384852,;HOXA10-AS,upstream_gene_variant,,ENST00000519935,;HOXA10-AS,upstream_gene_variant,,ENST00000523790,;HOXA10-AS,upstream_gene_variant,,ENST00000519694,;HOXA9,intron_variant,,ENST00000497089,;HOXA9,intron_variant,,ENST00000487384,;HOXA9,intron_variant,,ENST00000465941,;HOXA9,intron_variant,,ENST00000489695,;	A	ENST00000343483	Transcript	missense_variant	257/2060	184/819	62/272	V/L	Gtg/Ttg		1		-1	HOXA9	HGNC	HGNC:5109	protein_coding	YES	CCDS5409.1	ENSP00000343619	P31269		UPI0000000CA4	NM_152739.3	deleterious(0.02)		1/2		hmmpanther:PTHR24326:SF226,hmmpanther:PTHR24326,PIRSF_domain:PIRSF037109,Pfam_domain:PF04617																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	27165274	27165274	C	A	1	0	0	0	0	1	0	0	0	7192	507	18	2		2	HOXA9	7	27165274	Missense_Mutation	SNP	C	C3N-00175_TP	22158	27165274	132180699	598	10748											
HOXA10	0	.	GRCh38	chr7	27173584	27173584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccccgggggctgcgcgggGaacgggccagccccgagttg	4	3	19	15	6	0	0	0	0	0	0	0	2	0	1	5	5	3	2	5	5	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.723C>A	p.Phe241Leu	p.F241L	ENST00000283921	1/2	121	92	29	112	112	0	strelka-varscan-mutect	HOXA10,missense_variant,p.Phe241Leu,ENST00000283921,NM_018951.3;HOXA10,missense_variant,p.Pro120Thr,ENST00000613671,;HOXA10,intron_variant,,ENST00000396344,;HOXA10-HOXA9,intron_variant,,ENST00000470747,;HOXA9,upstream_gene_variant,,ENST00000384852,;HOXA10-AS,downstream_gene_variant,,ENST00000519935,;HOXA10-AS,downstream_gene_variant,,ENST00000523790,;HOXA10-AS,downstream_gene_variant,,ENST00000519694,;HOXA9,intron_variant,,ENST00000465941,;HOXA9,upstream_gene_variant,,ENST00000497089,;HOXA10,upstream_gene_variant,,ENST00000521421,;HOXA10,upstream_gene_variant,,ENST00000524368,;HOXA10,upstream_gene_variant,,ENST00000519593,;HOXA9,upstream_gene_variant,,ENST00000487384,;HOXA9,upstream_gene_variant,,ENST00000489695,;	T	ENST00000283921	Transcript	missense_variant	723/2541	723/1233	241/410	F/L	ttC/ttA		1		-1	HOXA10	HGNC	HGNC:5100	protein_coding	YES	CCDS5410.2	ENSP00000283921	P31260		UPI0000EE42DA	NM_018951.3	tolerated(0.45)		1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF52,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1413406253	.												T	3	4	39	27173584	27173584	G	T	1	0	0	0	0	1	0	0	0	7183	1174	41	2		2	HOXA10	7	27173584	Missense_Mutation	SNP	G	C3N-00175_TP	8310	27173584	132172389	599	10749											
CREB5	0	.	GRCh38	chr7	28809219	28809219	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acacaacagatgcagccaacCcagacaatacagccacccca	17	2	5	17	0	0	2	0	0	0	2	0	2	0	2	5	0	6	1	5	0	4	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1059C>A	p.=	p.T353T	ENST00000357727	9/11	110	90	20	92	92	0	strelka-varscan-mutect	CREB5,synonymous_variant,p.=,ENST00000357727,NM_182898.3;CREB5,synonymous_variant,p.=,ENST00000396300,NM_004904.3;CREB5,synonymous_variant,p.=,ENST00000396299,NM_182899.4;CREB5,synonymous_variant,p.=,ENST00000396298,NM_001011666.2;CREB5,synonymous_variant,p.=,ENST00000409603,;CREB5,synonymous_variant,p.=,ENST00000426500,;CREB5,upstream_gene_variant,,ENST00000498316,;	A	ENST00000357727	Transcript	synonymous_variant	1449/8532	1059/1527	353/508	T	acC/acA		1		1	CREB5	HGNC	HGNC:16844	protein_coding	YES	CCDS5417.1	ENSP00000350359	Q02930		UPI0000457534	NM_182898.3			9/11		PIRSF_domain:PIRSF003153,hmmpanther:PTHR19304,hmmpanther:PTHR19304:SF8,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	28809219	28809219	C	A	1	0	0	0	0	0	0	0	1	3660	610	22	2		2	CREB5	7	28809219	Silent	SNP	C	C3N-00175_TP	1635635	28809219	130536754	600	10750											
CREB5	0	.	GRCh38	chr7	28809385	28809385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattggaaaagaaagcagaaGaactcacccagacaaacatg	20	4	8	9	0	1	4	1	0	0	4	1	5	1	5	1	1	3	1	1	1	6	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1225G>A	p.Glu409Lys	p.E409K	ENST00000357727	9/11	137	124	13	128	128	0	strelka-varscan-mutect	CREB5,missense_variant,p.Glu409Lys,ENST00000357727,NM_182898.3;CREB5,missense_variant,p.Glu402Lys,ENST00000396300,NM_004904.3;CREB5,missense_variant,p.Glu376Lys,ENST00000396299,NM_182899.4;CREB5,missense_variant,p.Glu270Lys,ENST00000396298,NM_001011666.2;CREB5,missense_variant,p.Glu376Lys,ENST00000409603,;CREB5,downstream_gene_variant,,ENST00000426500,;CREB5,upstream_gene_variant,,ENST00000498316,;	A	ENST00000357727	Transcript	missense_variant	1615/8532	1225/1527	409/508	E/K	Gaa/Aaa		1		1	CREB5	HGNC	HGNC:16844	protein_coding	YES	CCDS5417.1	ENSP00000350359	Q02930		UPI0000457534	NM_182898.3	deleterious(0)		9/11		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00170,PIRSF_domain:PIRSF003153,PROSITE_profiles:PS50217,hmmpanther:PTHR19304,hmmpanther:PTHR19304:SF8,SMART_domains:SM00338,Superfamily_domains:SSF57959																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	28809385	28809385	G	A	1	0	0	0	0	1	0	0	0	3660	943	33	3		3	CREB5	7	28809385	Missense_Mutation	SNP	G	C3N-00175_TP	166	28809385	130536588	601	10751											
SCRN1	0	.	GRCh38	chr7	29926560	29926560	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttttggcagggtcgtcatcCccaaaacagggagactgtgt	9	11	12	9	1	1	1	1	0	0	1	3	2	2	1	2	3	1	1	2	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1038G>T	p.=	p.G346G	ENST00000434476	7/8	236	177	59	223	223	0	strelka-varscan-mutect	SCRN1,synonymous_variant,p.=,ENST00000426154,NM_001145513.1;SCRN1,synonymous_variant,p.=,ENST00000242059,NM_014766.4;SCRN1,synonymous_variant,p.=,ENST00000409497,;SCRN1,synonymous_variant,p.=,ENST00000425819,NM_001145515.1;SCRN1,synonymous_variant,p.=,ENST00000434476,NM_001145514.1;	A	ENST00000434476	Transcript	synonymous_variant	1087/1454	1038/1305	346/434	G	ggG/ggT		1		-1	SCRN1	HGNC	HGNC:22192	protein_coding	YES	CCDS47567.1	ENSP00000388942	Q12765		UPI000194EC2F	NM_001145514.1			7/8		hmmpanther:PTHR12994:SF7,hmmpanther:PTHR12994																	LOW	1	SNV	2			1										PASS		rs1350725220	.												A	2	1	39	29926560	29926560	C	A	1	0	0	0	0	0	0	0	1	14208	610	22	2		2	SCRN1	7	29926560	Silent	SNP	C	C3N-00175_TP	1117175	29926560	129419413	602	10752											
FAM188B	0	.	GRCh38	chr7	30875568	30875568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtggttgagctggattctgGggatgggaacatcacacttc	8	12	14	7	0	2	1	1	1	1	0	3	4	2	4	0	5	2	2	0	5	1	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1883G>T	p.Gly628Val	p.G628V	ENST00000265299	15/18	295	267	28	258	258	0	strelka-varscan-mutect	FAM188B,missense_variant,p.Gly628Val,ENST00000265299,NM_032222.2;RP5-877J2.1,missense_variant,p.Gly94Val,ENST00000509504,;INMT-FAM188B,3_prime_UTR_variant,,ENST00000458257,;FAM188B,non_coding_transcript_exon_variant,,ENST00000409881,;	T	ENST00000265299	Transcript	missense_variant	1960/2733	1883/2274	628/757	G/V	gGg/gTg		1		1	FAM188B	HGNC	HGNC:21916	protein_coding	YES	CCDS43565.1	ENSP00000265299	Q4G0A6		UPI0000D60E7B	NM_032222.2	deleterious(0)		15/18		Pfam_domain:PF13898,hmmpanther:PTHR12473,hmmpanther:PTHR12473:SF4,SMART_domains:SM01174																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	30875568	30875568	G	T	1	0	0	0	0	1	0	0	0	5366	1232	43	2		2	FAM188B	7	30875568	Missense_Mutation	SNP	G	C3N-00175_TP	949008	30875568	128470405	603	10753											
PDE1C	0	.	GRCh38	chr7	31828346	31828346	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcacacagaggagaaaaagGcagccccagctctgcttctc	12	6	10	13	0	3	2	1	0	2	2	4	3	3	2	2	2	3	3	2	2	2	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1411C>G	p.Pro471Ala	p.P471A	ENST00000396193	13/19	244	188	56	198	198	0	strelka-varscan-mutect	PDE1C,missense_variant,p.Pro411Ala,ENST00000396184,NM_001322057.1,NM_001322056.1,NM_001322059.1,NM_005020.3;PDE1C,missense_variant,p.Pro471Ala,ENST00000396193,NM_001191058.2;PDE1C,missense_variant,p.Pro411Ala,ENST00000396191,NM_001191057.2;PDE1C,missense_variant,p.Pro411Ala,ENST00000321453,NM_001191059.2;PDE1C,missense_variant,p.Pro411Ala,ENST00000396182,NM_001191056.2;	C	ENST00000396193	Transcript	missense_variant	2005/5109	1411/2310	471/769	P/A	Cct/Gct		1		-1	PDE1C	HGNC	HGNC:8776	protein_coding	YES	CCDS55100.1	ENSP00000379496		A0A0A0MS69	UPI00043788D1	NM_001191058.2	deleterious(0)		13/19		Gene3D:1.10.1300.10,Pfam_domain:PF00233,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF32,Superfamily_domains:SSF109604																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	39	31828346	31828346	G	C	1	0	0	0	0	1	0	0	0	11723	1203	42	4		4	PDE1C	7	31828346	Missense_Mutation	SNP	G	C3N-00175_TP	952778	31828346	127517627	604	10754											
FKBP9	0	.	GRCh38	chr7	32976376	32976376	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaatcgcatgaaaacatatGacacgtatgtgggaattggc	15	9	10	7	2	0	2	0	2	0	0	1	3	0	3	0	2	1	2	0	2	6	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.739G>C	p.Asp247His	p.D247H	ENST00000538336	5/11	263	249	14	207	207	0	varscan-mutect	FKBP9,missense_variant,p.Asp247His,ENST00000538336,NM_001284341.1;FKBP9,missense_variant,p.Asp194His,ENST00000242209,NM_007270.4;FKBP9,upstream_gene_variant,,ENST00000490776,NM_001284343.1;FKBP9,upstream_gene_variant,,ENST00000418354,;FKBP9,non_coding_transcript_exon_variant,,ENST00000469202,;FKBP9,non_coding_transcript_exon_variant,,ENST00000472007,;FKBP9,upstream_gene_variant,,ENST00000489038,;FKBP9,downstream_gene_variant,,ENST00000464334,;FKBP9,upstream_gene_variant,,ENST00000463443,;FKBP9,non_coding_transcript_exon_variant,,ENST00000494374,;FKBP9,non_coding_transcript_exon_variant,,ENST00000485309,;	C	ENST00000538336	Transcript	missense_variant	909/3621	739/1872	247/623	D/H	Gac/Cac		1		1	FKBP9	HGNC	HGNC:3725	protein_coding	YES	CCDS64622.1	ENSP00000439250	O95302		UPI0001914EC6	NM_001284341.1	deleterious(0)		5/11		PROSITE_profiles:PS50059,hmmpanther:PTHR10516:SF111,hmmpanther:PTHR10516,Pfam_domain:PF00254,Gene3D:3.10.50.40,Superfamily_domains:SSF54534																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	39	32976376	32976376	G	C	1	0	0	0	0	1	0	0	0	5778	1290	45	4		4	FKBP9	7	32976376	Missense_Mutation	SNP	G	C3N-00175_TP	1148030	32976376	126369597	605	10755											
EEPD1	0	.	GRCh38	chr7	36299077	36299077	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactggtcttggggcggggtGgcttctgaacactgcccagt	6	10	15	10	1	2	1	0	1	2	0	2	1	2	1	1	6	3	1	1	6	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1581G>A	p.=	p.V527V	ENST00000242108	8/8	257	178	79	289	289	0	strelka-varscan-mutect	EEPD1,synonymous_variant,p.=,ENST00000242108,NM_030636.2;EEPD1,synonymous_variant,p.=,ENST00000534978,;EEPD1,intron_variant,,ENST00000444777,;EEPD1,non_coding_transcript_exon_variant,,ENST00000468591,;EEPD1,downstream_gene_variant,,ENST00000487069,;	A	ENST00000242108	Transcript	synonymous_variant	2299/4765	1581/1710	527/569	V	gtG/gtA		1		1	EEPD1	HGNC	HGNC:22223	protein_coding	YES	CCDS34619.1	ENSP00000242108	Q7L9B9		UPI000020ED9D	NM_030636.2			8/8		hmmpanther:PTHR21180:SF32,hmmpanther:PTHR21180,Gene3D:3.60.10.10,Superfamily_domains:SSF56219																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	36299077	36299077	G	A	1	0	0	0	0	0	0	0	1	4763	1335	47	3		3	EEPD1	7	36299077	Silent	SNP	G	C3N-00175_TP	3322701	36299077	123046896	606	10756											
KIAA0895	0	.	GRCh38	chr7	36357074	36357074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatacaaaatttcttcccaGaaaagtcatctcccttttca	14	14	2	11	0	4	1	2	0	2	1	6	1	5	1	2	0	1	0	2	0	6	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.695C>T	p.Ser232Phe	p.S232F	ENST00000297063	3/7	325	300	25	305	305	0	strelka-varscan-mutect	KIAA0895,missense_variant,p.Ser181Phe,ENST00000317020,NM_015314.2;KIAA0895,missense_variant,p.Ser232Phe,ENST00000297063,NM_001100425.1;KIAA0895,missense_variant,p.Ser219Phe,ENST00000338533,NM_001199707.1;KIAA0895,missense_variant,p.Ser219Phe,ENST00000415803,;KIAA0895,missense_variant,p.Ser181Phe,ENST00000440378,NM_001199706.1;KIAA0895,missense_variant,p.Ser81Phe,ENST00000436884,NM_001199708.1;KIAA0895,missense_variant,p.Ser99Phe,ENST00000429651,;KIAA0895,intron_variant,,ENST00000453212,NM_001300956.1;KIAA0895,intron_variant,,ENST00000431396,;KIAA0895,intron_variant,,ENST00000480192,;KIAA0895,intron_variant,,ENST00000483526,;KIAA0895,intron_variant,,ENST00000483360,;KIAA0895,non_coding_transcript_exon_variant,,ENST00000493327,;	A	ENST00000297063	Transcript	missense_variant	746/4153	695/1563	232/520	S/F	tCt/tTt		1		-1	KIAA0895	HGNC	HGNC:22206	protein_coding	YES	CCDS43570.1	ENSP00000297063	Q8NCT3		UPI000013E3C0	NM_001100425.1	deleterious(0)		3/7		hmmpanther:PTHR31817,hmmpanther:PTHR31817:SF3																	MODERATE	1	SNV	1			1										PASS		rs1392294176	.												A	3	1	39	36357074	36357074	G	A	1	0	0	0	0	1	0	0	0	8092	942	33	3		3	KIAA0895	7	36357074	Missense_Mutation	SNP	G	C3N-00175_TP	57997	36357074	122988899	607	10757											
NME8	0	.	GRCh38	chr7	37884392	37884392	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaagcacaagcactgTgcaaggaatatgaaaatgaa	22	5	9	5	0	0	3	0	2	0	1	0	4	0	4	0	1	3	3	0	1	10	1	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1084T>A	p.Cys362Ser	p.C362S	ENST00000199447	13/18	149	114	35	233	233	0	strelka-varscan-mutect	NME8,missense_variant,p.Cys362Ser,ENST00000199447,NM_016616.4;NME8,missense_variant,p.Cys362Ser,ENST00000440017,;EPDR1,intron_variant,,ENST00000476620,;NME8,3_prime_UTR_variant,,ENST00000426106,;	A	ENST00000199447	Transcript	missense_variant	1456/2312	1084/1767	362/588	C/S	Tgc/Agc		1		1	NME8	HGNC	HGNC:16473	protein_coding	YES	CCDS5452.1	ENSP00000199447	Q8N427		UPI00000700CB	NM_016616.4	deleterious(0.03)		13/18		Gene3D:3.30.70.141,Pfam_domain:PF00334,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF65,SMART_domains:SM00562,Superfamily_domains:SSF54919																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	37884392	37884392	T	A	1	0	0	0	0	1	0	0	0	10534	1696	59	4		4	NME8	7	37884392	Missense_Mutation	SNP	T	C3N-00175_TP	1527318	37884392	121461581	608	10758											
C7orf25	0	.	GRCh38	chr7	42910489	42910489	+	Missense_Mutation	SNP	C	C	G																															ctcaatgatgcttttgtcacCatattggcccctgcccagcc																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.586G>C	p.Gly196Arg	p.G196R	ENST00000447342	2/2	217	193	24	189	189	0	strelka-varscan-mutect	C7orf25,missense_variant,p.Gly138Arg,ENST00000350427,NM_024054.2;C7orf25,missense_variant,p.Gly196Arg,ENST00000447342,NM_001099858.1;C7orf25,missense_variant,p.Gly138Arg,ENST00000438029,;C7orf25,missense_variant,p.Gly196Arg,ENST00000431882,;C7orf25,missense_variant,p.Gly138Arg,ENST00000425683,;C7orf25,downstream_gene_variant,,ENST00000432637,;RP11-111K18.1,3_prime_UTR_variant,,ENST00000442788,;RP11-111K18.1,downstream_gene_variant,,ENST00000433579,;	G	ENST00000447342	Transcript	missense_variant	609/1823	586/1440	196/479	G/R	Ggt/Cgt		1		-1	C7orf25	HGNC	HGNC:21703	protein_coding	YES	CCDS47576.1	ENSP00000413029	Q9BPX7		UPI000159689A	NM_001099858.1	deleterious(0)		2/2		Pfam_domain:PF07000,hmmpanther:PTHR13379																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	39	42910489	42910489	C	G	1	0	0	0	0	1	0	0	0	2135	594	21	4		4	C7orf25	7	42910489	Missense_Mutation	SNP	C	C3N-00175_TP	5026097	42910489	116435484	609	10759	242	2									
C7orf25	0	.	GRCh38	chr7	42910499	42910499	+	Missense_Mutation	SNP	C	C	A																															cttttgtcaccatattggccCctgcccagccagatgttatg																										C3N-00175_TP	C3N-00175_NB	C	C																c.576G>T	p.Arg192Ser	p.R192S	ENST00000447342	2/2	203	138	65	192	192	0	strelka-varscan-mutect	C7orf25,missense_variant,p.Arg134Ser,ENST00000350427,NM_024054.2;C7orf25,missense_variant,p.Arg192Ser,ENST00000447342,NM_001099858.1;C7orf25,missense_variant,p.Arg134Ser,ENST00000438029,;C7orf25,missense_variant,p.Arg192Ser,ENST00000431882,;C7orf25,missense_variant,p.Arg134Ser,ENST00000425683,;C7orf25,downstream_gene_variant,,ENST00000432637,;RP11-111K18.1,3_prime_UTR_variant,,ENST00000442788,;RP11-111K18.1,downstream_gene_variant,,ENST00000433579,;	A	ENST00000447342	Transcript	missense_variant	599/1823	576/1440	192/479	R/S	agG/agT	COSM4631207,COSM4631208,COSM4784438,COSM746889	1		-1	C7orf25	HGNC	HGNC:21703	protein_coding	YES	CCDS47576.1	ENSP00000413029	Q9BPX7		UPI000159689A	NM_001099858.1	deleterious(0.02)		2/2		Pfam_domain:PF07000,hmmpanther:PTHR13379											1,1,1,1						MODERATE	1	SNV	2		1,1,1,1	1										PASS		.	.												A	3	1	39	42910499	42910499	C	A	1	0	0	0	0	1	0	0	0	2135	622	22	2		2	C7orf25	7	42910499	Missense_Mutation	SNP	C	C3N-00175_TP	10	42910499	116435474	610	10760	242	2									
HECW1	0	.	GRCh38	chr7	43311837	43311837	+	Silent	SNP	G	G	T																															aactcccagagccgacgccgGtgcaaggagccgctccgata																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.102G>T	p.=	p.R34R	ENST00000395891	4/30	223	158	65	210	210	0	strelka-varscan-mutect	HECW1,synonymous_variant,p.=,ENST00000395891,NM_015052.4;HECW1,synonymous_variant,p.=,ENST00000453890,NM_001287059.1;HECW1,non_coding_transcript_exon_variant,,ENST00000492310,;HECW1,non_coding_transcript_exon_variant,,ENST00000464944,;HECW1,non_coding_transcript_exon_variant,,ENST00000490954,;	T	ENST00000395891	Transcript	synonymous_variant	707/9501	102/4821	34/1606	R	cgG/cgT		1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4			4/30																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	43311837	43311837	G	T	1	0	0	0	0	0	0	0	1	6924	1248	44	2		2	HECW1	7	43311837	Silent	SNP	G	C3N-00175_TP	401338	43311837	116034136	611	10761	243	2									
HECW1	0	.	GRCh38	chr7	43311842	43311842	+	Missense_Mutation	SNP	A	A	T																															ccagagccgacgccggtgcaAggagccgctccgatacagct																								novel		C3N-00175_TP	C3N-00175_NB	A	A																c.107A>T	p.Lys36Met	p.K36M	ENST00000395891	4/30	224	158	66	214	214	0	strelka-varscan-mutect	HECW1,missense_variant,p.Lys36Met,ENST00000395891,NM_015052.4;HECW1,missense_variant,p.Lys36Met,ENST00000453890,NM_001287059.1;HECW1,non_coding_transcript_exon_variant,,ENST00000492310,;HECW1,non_coding_transcript_exon_variant,,ENST00000464944,;HECW1,non_coding_transcript_exon_variant,,ENST00000490954,;	T	ENST00000395891	Transcript	missense_variant	712/9501	107/4821	36/1606	K/M	aAg/aTg		1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4	deleterious_low_confidence(0)		4/30																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	43311842	43311842	A	T	1	0	0	0	0	1	0	0	0	6924	72	3	4		4	HECW1	7	43311842	Missense_Mutation	SNP	A	C3N-00175_TP	5	43311842	116034131	612	10762	243	2									
HECW1	0	.	GRCh38	chr7	43444267	43444267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagtcagcccaaattcaGgacagccccatgaacaacct	13	6	7	15	0	2	2	2	2	0	0	2	3	2	3	5	1	4	0	5	1	3	1	rs763007524		C3N-00175_TP	C3N-00175_NB	G	G																c.1095G>A	p.=	p.Q365Q	ENST00000395891	11/30	87	69	18	91	91	0	strelka-varscan-mutect	HECW1,synonymous_variant,p.=,ENST00000395891,NM_015052.4;HECW1,synonymous_variant,p.=,ENST00000453890,NM_001287059.1;HECW1,downstream_gene_variant,,ENST00000471043,;	A	ENST00000395891	Transcript	synonymous_variant	1700/9501	1095/4821	365/1606	Q	caG/caA	rs763007524,COSM3929044,COSM3929045	1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4			11/30		hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs763007524	.												A	2	1	39	43444267	43444267	G	A	1	0	0	0	0	0	0	0	1	6924	991	35	3		3	HECW1	7	43444267	Silent	SNP	G	C3N-00175_TP	132425	43444267	115901706	613	10763											
HECW1	0	.	GRCh38	chr7	43507168	43507168	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagtgcaagagccccttcCccctaccgaagagactttga	10	7	9	15	1	0	3	0	1	0	2	1	5	1	3	6	0	3	1	6	0	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3663C>A	p.=	p.S1221S	ENST00000395891	22/30	228	178	50	207	207	0	strelka-varscan-mutect	HECW1,synonymous_variant,p.=,ENST00000395891,NM_015052.4;HECW1,synonymous_variant,p.=,ENST00000453890,NM_001287059.1;HECW1,intron_variant,,ENST00000429529,;AC011738.4,downstream_gene_variant,,ENST00000436105,;	A	ENST00000395891	Transcript	synonymous_variant	4268/9501	3663/4821	1221/1606	S	tcC/tcA		1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4			22/30		Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	43507168	43507168	C	A	1	0	0	0	0	0	0	0	1	6924	610	22	2		2	HECW1	7	43507168	Silent	SNP	C	C3N-00175_TP	62901	43507168	115838805	614	10764											
AEBP1	0	.	GRCh38	chr7	44110241	44110241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacgactactatgatggtgCgtggtgtgccgaggacgatg	8	9	17	7	4	0	1	0	1	0	0	0	6	0	3	1	4	3	0	1	4	2	2	rs757009902		C3N-00175_TP	C3N-00175_NB	C	C																c.1295C>T	p.Ala432Val	p.A432V	ENST00000223357	11/21	314	279	35	390	390	0	strelka-varscan-mutect	AEBP1,missense_variant,p.Ala432Val,ENST00000223357,NM_001129.4;AEBP1,upstream_gene_variant,,ENST00000450684,;POLD2,downstream_gene_variant,,ENST00000406581,NM_001256879.1;POLD2,downstream_gene_variant,,ENST00000452185,NM_001127218.2;POLD2,downstream_gene_variant,,ENST00000610533,NM_006230.3;POLD2,downstream_gene_variant,,ENST00000223361,;AEBP1,downstream_gene_variant,,ENST00000455443,;AEBP1,downstream_gene_variant,,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000582839,;AEBP1,downstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000413907,;AEBP1,upstream_gene_variant,,ENST00000431035,;AEBP1,downstream_gene_variant,,ENST00000453052,;AEBP1,upstream_gene_variant,,ENST00000434445,;POLD2,downstream_gene_variant,,ENST00000489883,;	T	ENST00000223357	Transcript	missense_variant	1600/4081	1295/3477	432/1158	A/V	gCg/gTg	rs757009902,COSM3881189,COSM601268	1		1	AEBP1	HGNC	HGNC:303	protein_coding	YES	CCDS5476.1	ENSP00000223357	Q8IUX7		UPI00000746E2	NM_001129.4	deleterious(0)		11/21		Gene3D:2.60.120.260,Pfam_domain:PF00754,PROSITE_patterns:PS01285,PROSITE_profiles:PS50022,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF48,SMART_domains:SM00231,Superfamily_domains:SSF49785											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs757009902	.												T	3	4	39	44110241	44110241	C	T	1	0	0	0	0	1	0	0	0	424	768	27	1		1	AEBP1	7	44110241	Missense_Mutation	SNP	C	C3N-00175_TP	603073	44110241	115235732	615	10765											
OGDH	0	.	GRCh38	chr7	44647732	44647732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggactcctccgtgcccgctGacattatctcatccacagac	8	10	7	16	2	1	2	1	1	1	1	5	3	4	3	4	1	1	1	4	1	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.490G>A	p.Asp164Asn	p.D164N	ENST00000222673	4/23	144	132	12	152	152	0	strelka-varscan-mutect	OGDH,missense_variant,p.Asp164Asn,ENST00000222673,NM_002541.3;OGDH,missense_variant,p.Asp164Asn,ENST00000631326,;OGDH,missense_variant,p.Asp164Asn,ENST00000444676,;OGDH,missense_variant,p.Asp164Asn,ENST00000443864,NM_001003941.2;OGDH,missense_variant,p.Asp164Asn,ENST00000419661,;OGDH,intron_variant,,ENST00000449767,NM_001165036.1;OGDH,intron_variant,,ENST00000447398,;OGDH,intron_variant,,ENST00000439616,;	A	ENST00000222673	Transcript	missense_variant	532/4181	490/3072	164/1023	D/N	Gac/Aac		1		1	OGDH	HGNC	HGNC:8124	protein_coding	YES	CCDS34627.1	ENSP00000222673	Q02218		UPI000006D5FE	NM_002541.3	tolerated(0.07)		4/23		PIRSF_domain:PIRSF000157,hmmpanther:PTHR23152,hmmpanther:PTHR23152:SF7,TIGRFAM_domain:TIGR00239																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	44647732	44647732	G	A	1	0	0	0	0	1	0	0	0	10913	1290	45	3		3	OGDH	7	44647732	Missense_Mutation	SNP	G	C3N-00175_TP	537491	44647732	114698241	616	10766											
ZMIZ2	0	.	GRCh38	chr7	44759378	44759378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccccctgccccctccccttCctaccctgggcacaggctgc	3	7	8	23	0	0	0	0	0	0	0	2	0	2	0	8	2	3	2	8	2	1	2			C3N-00175_TP	C3N-00175_NB	C	C																c.911C>T	p.Ser304Phe	p.S304F	ENST00000309315	7/19	108	96	12	136	136	0	strelka-varscan-mutect	ZMIZ2,missense_variant,p.Ser304Phe,ENST00000309315,NM_031449.3;ZMIZ2,missense_variant,p.Ser304Phe,ENST00000441627,;ZMIZ2,missense_variant,p.Ser272Phe,ENST00000433667,;ZMIZ2,missense_variant,p.Ser272Phe,ENST00000413916,NM_001300959.1;ZMIZ2,missense_variant,p.Ser304Phe,ENST00000265346,NM_174929.2;ZMIZ2,missense_variant,p.Ser304Phe,ENST00000615423,;ZMIZ2,downstream_gene_variant,,ENST00000457123,;ZMIZ2,upstream_gene_variant,,ENST00000492558,;ZMIZ2,upstream_gene_variant,,ENST00000478045,;ZMIZ2,upstream_gene_variant,,ENST00000463056,;ZMIZ2,upstream_gene_variant,,ENST00000480964,;ZMIZ2,downstream_gene_variant,,ENST00000492001,;ZMIZ2,downstream_gene_variant,,ENST00000416856,;	T	ENST00000309315	Transcript	missense_variant	1034/5144	911/2763	304/920	S/F	tCc/tTc	COSM3639048	1		1	ZMIZ2	HGNC	HGNC:22229	protein_coding	YES	CCDS43576.1	ENSP00000311778	Q8NF64		UPI00001D747B	NM_031449.3	deleterious(0)		7/19		Low_complexity_(Seg):seg,hmmpanther:PTHR10782:SF38,hmmpanther:PTHR10782											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	39	44759378	44759378	C	T	1	0	0	0	0	1	0	0	0	18277	855	30	3		3	ZMIZ2	7	44759378	Missense_Mutation	SNP	C	C3N-00175_TP	111646	44759378	114586595	617	10767											
TBRG4	0	.	GRCh38	chr7	45101853	45101853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccatactgcgtggccacCtcgaggctgcccttgtcggc	5	8	12	16	3	0	0	0	0	0	0	2	1	0	0	4	3	4	1	4	3	1	2	rs766311842		C3N-00175_TP	C3N-00175_NB	C	C																c.1539G>T	p.Glu513Asp	p.E513D	ENST00000258770	8/11	132	111	21	100	100	0	strelka-varscan-mutect	TBRG4,missense_variant,p.Glu513Asp,ENST00000258770,NM_004749.3;TBRG4,missense_variant,p.Glu403Asp,ENST00000395655,;TBRG4,missense_variant,p.Glu513Asp,ENST00000494076,NM_001261834.1;TBRG4,missense_variant,p.Glu403Asp,ENST00000361278,NM_030900.3,NM_199122.2;TBRG4,missense_variant,p.Glu228Asp,ENST00000483615,;TBRG4,downstream_gene_variant,,ENST00000478532,;TBRG4,downstream_gene_variant,,ENST00000461363,;SNORA5C,downstream_gene_variant,,ENST00000364902,;SNORA5A,downstream_gene_variant,,ENST00000384111,;SNORA5B,downstream_gene_variant,,ENST00000363786,;TBRG4,non_coding_transcript_exon_variant,,ENST00000495973,;TBRG4,non_coding_transcript_exon_variant,,ENST00000478116,;TBRG4,non_coding_transcript_exon_variant,,ENST00000482482,;TBRG4,downstream_gene_variant,,ENST00000488222,;TBRG4,downstream_gene_variant,,ENST00000484326,;TBRG4,downstream_gene_variant,,ENST00000477328,;	A	ENST00000258770	Transcript	missense_variant	1661/2243	1539/1896	513/631	E/D	gaG/gaT	rs766311842	1		-1	TBRG4	HGNC	HGNC:17443	protein_coding	YES	CCDS5501.1	ENSP00000258770	Q969Z0		UPI0000071F89	NM_004749.3	tolerated(0.8)		8/11		Pfam_domain:PF08368,hmmpanther:PTHR21228,hmmpanther:PTHR21228:SF26																	MODERATE	1	SNV	1			1										PASS		rs766311842	.												A	3	1	39	45101853	45101853	C	A	1	0	0	0	0	1	0	0	0	16054	680	24	2		2	TBRG4	7	45101853	Missense_Mutation	SNP	C	C3N-00175_TP	342475	45101853	114244120	618	10768											
ADCY1	0	.	GRCh38	chr7	45610419	45610419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccccggaacgttgccaTggagatgaaggaggacttcc	9	7	13	12	2	0	2	0	1	0	1	1	6	1	5	5	4	3	1	5	4	2	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.830T>C	p.Met277Thr	p.M277T	ENST00000297323	3/20	181	129	52	192	192	0	strelka-varscan-mutect	ADCY1,missense_variant,p.Met277Thr,ENST00000297323,NM_021116.2;ADCY1,missense_variant,p.Met52Thr,ENST00000432715,NM_001281768.1;ADCY1,missense_variant,p.Met52Thr,ENST00000621543,;	C	ENST00000297323	Transcript	missense_variant	852/12503	830/3360	277/1119	M/T	aTg/aCg		1		1	ADCY1	HGNC	HGNC:232	protein_coding	YES	CCDS34631.1	ENSP00000297323	Q08828		UPI0000199C4A	NM_021116.2	deleterious(0.01)		3/20		hmmpanther:PTHR11920:SF336,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050,Pfam_domain:PF16214,SMART_domains:SM00044																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	45610419	45610419	T	C	1	0	0	0	0	1	0	0	0	336	1464	51	5		5	ADCY1	7	45610419	Missense_Mutation	SNP	T	C3N-00175_TP	508566	45610419	113735554	619	10769											
PKD1L1	0	.	GRCh38	chr7	47833144	47833144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcagagaagtcctgctgtGgtcagccccatgaacctgca	10	8	10	13	0	2	2	2	1	0	1	3	3	3	2	4	1	4	2	4	1	2	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.6283C>A	p.His2095Asn	p.H2095N	ENST00000289672	41/57	193	153	40	223	223	0	strelka-mutect	PKD1L1,missense_variant,p.His2095Asn,ENST00000289672,NM_138295.3;HUS1,intron_variant,,ENST00000436444,;	T	ENST00000289672	Transcript	missense_variant	6334/9092	6283/8550	2095/2849	H/N	Cac/Aac		1		-1	PKD1L1	HGNC	HGNC:18053	protein_coding	YES	CCDS34633.1	ENSP00000289672	Q8TDX9		UPI0000130FA9	NM_138295.3	tolerated(0.5)		41/57		hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF145																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	47833144	47833144	G	T	1	0	0	0	0	1	0	0	0	12060	1348	47	2		2	PKD1L1	7	47833144	Missense_Mutation	SNP	G	C3N-00175_TP	2222725	47833144	111512829	620	10770											
ABCA13	0	.	GRCh38	chr7	48219391	48219391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgaccccaagaaaGtcaacaacctggccttttta	12	9	7	13	0	1	2	1	1	0	1	1	2	1	2	4	1	4	2	4	1	5	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.325G>T	p.Val109Phe	p.V109F	ENST00000435803	4/62	270	208	62	239	239	0	strelka-varscan-mutect	ABCA13,missense_variant,p.Val109Phe,ENST00000435803,NM_152701.4;ABCA13,missense_variant,p.Val109Phe,ENST00000417403,;	T	ENST00000435803	Transcript	missense_variant	349/17184	325/15177	109/5058	V/F	Gtc/Ttc		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4	tolerated(0.09)		4/62																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	48219391	48219391	G	T	1	0	0	0	0	1	0	0	0	35	1029	36	2		2	ABCA13	7	48219391	Missense_Mutation	SNP	G	C3N-00175_TP	386247	48219391	111126582	621	10771											
ZNF479	0	.	GRCh38	chr7	57126029	57126029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcacctacctgggtgtttgGctaccatctcatttctcttt	5	17	6	13	0	3	0	2	0	2	0	5	0	3	0	3	2	2	2	3	2	2	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.251C>A	p.Ala84Asp	p.A84D	ENST00000331162	4/5	200	169	31	216	215	1	strelka-varscan-mutect	ZNF479,missense_variant,p.Ala84Asp,ENST00000331162,NM_033273.2;ZNF479,missense_variant,p.Ala84Asp,ENST00000319636,;ZNF479,missense_variant,p.Ala84Asp,ENST00000620639,;	T	ENST00000331162	Transcript	missense_variant	522/2072	251/1575	84/524	A/D	gCc/gAc		1		-1	ZNF479	HGNC	HGNC:23258	protein_coding	YES	CCDS43590.1	ENSP00000333776	Q96JC4		UPI000006E615	NM_033273.2	tolerated(0.28)		4/5		PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF103																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	57126029	57126029	G	T	1	0	0	0	0	1	0	0	0	18505	1203	42	2		2	ZNF479	7	57126029	Missense_Mutation	SNP	G	C3N-00175_TP	8906638	57126029	102219944	622	10772											
WBSCR17	0	.	GRCh38	chr7	71335549	71335549	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttctcccactttttctaGgcttatccaaatcccttggg	6	18	5	12	0	2	0	0	0	2	0	5	0	4	0	3	2	0	1	3	2	3	7			C3N-00175_TP	C3N-00175_NB	G	G																c.239-1G>T		p.X80_splice	ENST00000333538		46	36	10	39	39	0	strelka-varscan	WBSCR17,splice_acceptor_variant,,ENST00000333538,NM_022479.2;WBSCR17,splice_acceptor_variant,,ENST00000447516,;WBSCR17,start_lost,p.Gly1?,ENST00000618959,;WBSCR17,splice_acceptor_variant,,ENST00000498380,;WBSCR17,splice_acceptor_variant,,ENST00000467723,;	T	ENST00000333538	Transcript	splice_acceptor_variant	-/3884	239/1797	80/598			COSM5662930	1		1	WBSCR17	HGNC	HGNC:16347	protein_coding	YES	CCDS5540.1	ENSP00000329654	Q6IS24	Q2L4S5	UPI00000502D5	NM_022479.2				1/10												1						HIGH	1	SNV	1		1	1										PASS		.	.												T	5	4	39	71335549	71335549	G	T	1	0	0	0	0	0	0	1	0	17823	1014	35	2		2	WBSCR17	7	71335549	Splice_Site	SNP	G	C3N-00175_TP	14209520	71335549	88010424	623	10773											
WBSCR17	0	.	GRCh38	chr7	71670084	71670084	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacccagaaatgagaagatAcaataataccgttgcttacg	16	10	7	8	2	0	3	0	1	0	3	0	4	0	3	2	0	5	2	2	0	8	6	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1379A>T	p.Tyr460Phe	p.Y460F	ENST00000333538	8/11	278	248	30	260	260	0	strelka-varscan-mutect	WBSCR17,missense_variant,p.Tyr460Phe,ENST00000333538,NM_022479.2;WBSCR17,missense_variant,p.Tyr381Phe,ENST00000618959,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;	T	ENST00000333538	Transcript	missense_variant	2013/3884	1379/1797	460/598	Y/F	tAc/tTc		1		1	WBSCR17	HGNC	HGNC:16347	protein_coding	YES	CCDS5540.1	ENSP00000329654	Q6IS24	Q2L4S5	UPI00000502D5	NM_022479.2	tolerated(0.1)		8/11		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	71670084	71670084	A	T	1	0	0	0	0	1	0	0	0	17823	391	14	4		4	WBSCR17	7	71670084	Missense_Mutation	SNP	A	C3N-00175_TP	334535	71670084	87675889	624	10774											
VPS37D	0	.	GRCh38	chr7	73670093	73670093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctagaagaggcggagcaGgaggcagaggtgaggggagg	12	2	23	4	1	0	4	0	1	0	3	0	8	0	7	0	8	2	3	0	8	2	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.384G>A	p.=	p.Q128Q	ENST00000324941	3/4	209	190	19	259	259	0	strelka-varscan-mutect	VPS37D,synonymous_variant,p.=,ENST00000324941,NM_001077621.1;VPS37D,intron_variant,,ENST00000451519,;	A	ENST00000324941	Transcript	synonymous_variant	518/1624	384/756	128/251	Q	caG/caA		1		1	VPS37D	HGNC	HGNC:18287	protein_coding	YES	CCDS43596.1	ENSP00000320416	Q86XT2		UPI000020E8D4	NM_001077621.1			3/4		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51314,hmmpanther:PTHR13678:SF12,hmmpanther:PTHR13678,Pfam_domain:PF07200																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	73670093	73670093	G	A	1	0	0	0	0	0	0	0	1	17754	991	35	3		3	VPS37D	7	73670093	Silent	SNP	G	C3N-00175_TP	2000009	73670093	85675880	625	10775											
CLIP2	0	.	GRCh38	chr7	74338747	74338747	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagggtatcttcacgCggccctccaagctgacccgg	6	7	10	18	3	2	1	1	1	1	0	4	1	4	1	5	3	1	2	5	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.421C>A	p.=	p.R141R	ENST00000223398	3/17	234	173	61	311	310	1	strelka-varscan-mutect	CLIP2,synonymous_variant,p.=,ENST00000223398,NM_003388.4;CLIP2,synonymous_variant,p.=,ENST00000361545,NM_032421.2;CLIP2,synonymous_variant,p.=,ENST00000395060,;	A	ENST00000223398	Transcript	synonymous_variant	748/5563	421/3141	141/1046	R	Cgg/Agg		1		1	CLIP2	HGNC	HGNC:2586	protein_coding	YES	CCDS5569.1	ENSP00000223398	Q9UDT6		UPI000007061E	NM_003388.4			3/17		Gene3D:2.30.30.190,Pfam_domain:PF01302,PROSITE_profiles:PS50245,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF10,SMART_domains:SM01052,Superfamily_domains:SSF74924																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	39	74338747	74338747	C	A	1	0	0	0	0	0	0	0	1	3302	759	27	1		1	CLIP2	7	74338747	Silent	SNP	C	C3N-00175_TP	668654	74338747	85007226	626	10776											
CACNA2D1	0	.	GRCh38	chr7	81950507	81950507	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacagtcagtataatccTcctgttgttaaaaaaaaaag	17	10	5	9	0	1	0	1	0	0	0	3	0	3	0	3	0	0	3	3	0	7	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.3161A>T	p.Glu1054Val	p.E1054V	ENST00000356860	39/39	202	151	51	242	241	1	strelka-varscan-mutect	CACNA2D1,missense_variant,p.Glu1054Val,ENST00000356860,NM_000722.3;CACNA2D1,missense_variant,p.Glu1066Val,ENST00000356253,;	A	ENST00000356860	Transcript	missense_variant,splice_region_variant	3500/7563	3161/3276	1054/1091	E/V	gAg/gTg		1		-1	CACNA2D1	HGNC	HGNC:1399	protein_coding	YES	CCDS5598.1	ENSP00000349320	P54289		UPI00003674CD	NM_000722.3	deleterious(0)		39/39		Pfam_domain:PF08473,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	81950507	81950507	T	A	1	0	0	0	0	1	0	0	0	2236	1565	54	4		4	CACNA2D1	7	81950507	Missense_Mutation	SNP	T	C3N-00175_TP	7611760	81950507	77395466	627	10777											
C7orf62	0	.	GRCh38	chr7	88794662	88794662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggatatgcagaatggaaGtgggatagatgagcagcaat	15	7	15	4	1	0	3	0	1	0	2	0	7	0	6	0	3	3	3	0	3	5	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.281C>A	p.Thr94Asn	p.T94N	ENST00000297203	2/2	191	147	44	178	178	0	strelka-varscan-mutect	C7orf62,missense_variant,p.Thr94Asn,ENST00000297203,NM_152706.3;ZNF804B,intron_variant,,ENST00000333190,NM_181646.3;	T	ENST00000297203	Transcript	missense_variant	467/1023	281/762	94/253	T/N	aCt/aAt		1		-1	C7orf62	HGNC	HGNC:22402	protein_coding	YES	CCDS34678.1	ENSP00000297203	Q8TBZ9		UPI000005034C	NM_152706.3	tolerated(0.08)		2/2		hmmpanther:PTHR34035,hmmpanther:PTHR34035:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	88794662	88794662	G	T	1	0	0	0	0	1	0	0	0	2146	1029	36	2		2	C7orf62	7	88794662	Missense_Mutation	SNP	G	C3N-00175_TP	6844155	88794662	70551311	628	10778											
CYP51A1	0	.	GRCh38	chr7	92127631	92127631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcttctgctccaagaaaaCcttcaaaaaaattcaaaacg	17	11	3	10	1	4	1	2	0	2	1	5	1	5	1	2	0	3	1	2	0	8	4	rs766245719		C3N-00175_TP	C3N-00175_NB	C	C																c.469G>T	p.Val157Phe	p.V157F	ENST00000003100	4/10	161	140	21	272	271	1	strelka-varscan	CYP51A1,missense_variant,p.Val157Phe,ENST00000003100,NM_000786.3;CYP51A1,missense_variant,p.Val52Phe,ENST00000450723,NM_001146152.1;CYP51A1,upstream_gene_variant,,ENST00000422867,;CYP51A1,downstream_gene_variant,,ENST00000435873,;LRRD1,splice_region_variant,,ENST00000422722,;	A	ENST00000003100	Transcript	missense_variant,splice_region_variant	635/3210	469/1530	157/509	V/F	Gtt/Ttt	rs766245719	1		-1	CYP51A1	HGNC	HGNC:2649	protein_coding	YES	CCDS5623.1	ENSP00000003100		A0A0C4DFL7	UPI000013C4D5	NM_000786.3	deleterious(0)		4/10		hmmpanther:PTHR24286:SF24,hmmpanther:PTHR24286,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	92127631	92127631	C	A	1	0	0	0	0	1	0	0	0	3998	521	18	2		2	CYP51A1	7	92127631	Missense_Mutation	SNP	C	C3N-00175_TP	3332969	92127631	67218342	629	10779											
KRIT1	0	.	GRCh38	chr7	92235500	92235500	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctttatttctagtgcaCtatagcccatatgtagtgag	10	16	7	8	0	2	1	0	1	2	0	2	1	2	1	1	0	3	2	1	0	7	9	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.632G>T	p.Ser211Ile	p.S211I	ENST00000394507	9/20	258	202	56	352	352	0	strelka-varscan-mutect	KRIT1,missense_variant,p.Ser211Ile,ENST00000394507,NM_194456.1;KRIT1,missense_variant,p.Ser211Ile,ENST00000340022,NM_194455.1,NM_004912.3;KRIT1,missense_variant,p.Ser211Ile,ENST00000412043,;KRIT1,missense_variant,p.Ser211Ile,ENST00000394505,NM_194454.1;KRIT1,missense_variant,p.Ser211Ile,ENST00000394503,NM_001013406.1;KRIT1,missense_variant,p.Ser211Ile,ENST00000458177,;KRIT1,intron_variant,,ENST00000445516,;KRIT1,downstream_gene_variant,,ENST00000454017,;KRIT1,downstream_gene_variant,,ENST00000433016,;KRIT1,downstream_gene_variant,,ENST00000430102,;KRIT1,downstream_gene_variant,,ENST00000440209,;KRIT1,non_coding_transcript_exon_variant,,ENST00000486261,;KRIT1,non_coding_transcript_exon_variant,,ENST00000475770,;	A	ENST00000394507	Transcript	missense_variant	1416/4762	632/2211	211/736	S/I	aGt/aTt		1		-1	KRIT1	HGNC	HGNC:1573	protein_coding	YES	CCDS5624.1	ENSP00000378015	O00522	A4D1F7	UPI000006F5AA	NM_194456.1	tolerated(0.07)		9/20		hmmpanther:PTHR13283																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	92235500	92235500	C	A	1	0	0	0	0	1	0	0	0	8327	565	20	2		2	KRIT1	7	92235500	Missense_Mutation	SNP	C	C3N-00175_TP	107869	92235500	67110473	630	10780											
ERVW-1	0	.	GRCh38	chr7	92470236	92470236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagactcctatacgatgggGcatcaatatttccgggacgc	12	9	10	10	3	1	1	1	0	0	1	3	3	3	2	2	3	1	1	2	3	5	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.146C>A	p.Ala49Asp	p.A49D	ENST00000493463	1/1	87	65	22	96	96	0	strelka-varscan-mutect	ERVW-1,missense_variant,p.Ala49Asp,ENST00000493463,NM_014590.3;ERVW-1,missense_variant,p.Ala49Asp,ENST00000603053,NM_001130925.1;AC007566.10,intron_variant,,ENST00000427458,;ERVW-1,intron_variant,,ENST00000604270,;ERVW-1,intron_variant,,ENST00000603704,;ERVW-1,downstream_gene_variant,,ENST00000603252,;	T	ENST00000493463	Transcript	missense_variant	1070/2925	146/1617	49/538	A/D	gCc/gAc		1		-1	ERVW-1	HGNC	HGNC:13525	protein_coding	YES	CCDS5626.1	ENSP00000419945	Q9UQF0	D0EYG5	UPI00000389BB	NM_014590.3	tolerated_low_confidence(0.09)		1/1		hmmpanther:PTHR10424,hmmpanther:PTHR10424:SF48																	MODERATE		SNV				1										PASS		.	.												T	3	4	39	92470236	92470236	G	T	1	0	0	0	0	1	0	0	0	5108	1203	42	2		2	ERVW-1	7	92470236	Missense_Mutation	SNP	G	C3N-00175_TP	234736	92470236	66875737	631	10781											
TECPR1	0	.	GRCh38	chr7	98225061	98225061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcgtgcactcctgcagcCccgaggcatcgctccacatg	6	8	9	18	3	0	0	0	0	0	0	4	1	2	0	5	1	3	4	5	1	0	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2555G>T	p.Gly852Val	p.G852V	ENST00000447648	18/26	168	131	37	176	176	0	strelka-varscan-mutect	TECPR1,missense_variant,p.Gly852Val,ENST00000447648,NM_015395.2;TECPR1,non_coding_transcript_exon_variant,,ENST00000479975,;TECPR1,non_coding_transcript_exon_variant,,ENST00000476659,;TECPR1,downstream_gene_variant,,ENST00000479911,;TECPR1,upstream_gene_variant,,ENST00000462511,;TECPR1,non_coding_transcript_exon_variant,,ENST00000490842,;TECPR1,upstream_gene_variant,,ENST00000463402,;TECPR1,downstream_gene_variant,,ENST00000483740,;TECPR1,upstream_gene_variant,,ENST00000474915,;	A	ENST00000447648	Transcript	missense_variant	2855/6564	2555/3498	852/1165	G/V	gGg/gTg		1		-1	TECPR1	HGNC	HGNC:22214	protein_coding	YES	CCDS47648.1	ENSP00000404923	Q7Z6L1		UPI0000161940	NM_015395.2	deleterious(0.03)		18/26		Pfam_domain:PF06398,hmmpanther:PTHR23250,hmmpanther:PTHR23250:SF1,SMART_domains:SM00693																	MODERATE	1	SNV	1			1										PASS		rs933925712	.												A	3	1	39	98225061	98225061	C	A	1	0	0	0	0	1	0	0	0	16154	623	22	2		2	TECPR1	7	98225061	Missense_Mutation	SNP	C	C3N-00175_TP	5754825	98225061	61120912	632	10782											
ZKSCAN1	0	.	GRCh38	chr7	100033646	100033646	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtctcacagatgtgatGaatgtggtaaatgcttcacg	13	11	10	7	1	2	3	2	2	1	1	3	3	2	3	0	1	1	2	0	1	4	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1141G>T	p.Glu381Ter	p.E381*	ENST00000324306	6/6	211	170	41	237	237	0	strelka-varscan-mutect	ZKSCAN1,stop_gained,p.Glu381Ter,ENST00000324306,NM_003439.2;ZKSCAN1,stop_gained,p.Glu345Ter,ENST00000620510,;ZKSCAN1,stop_gained,p.Glu168Ter,ENST00000535170,NM_001287055.1;ZKSCAN1,stop_gained,p.Glu345Ter,ENST00000426572,NM_001287054.1;	T	ENST00000324306	Transcript	stop_gained	1375/9418	1141/1692	381/563	E/*	Gaa/Taa		1		1	ZKSCAN1	HGNC	HGNC:13101	protein_coding	YES	CCDS34698.1	ENSP00000323148	P17029		UPI00000726DD	NM_003439.2			6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR23226,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	39	100033646	100033646	G	T	1	0	0	0	0	0	1	0	0	18264	1291	45	2		2	ZKSCAN1	7	100033646	Nonsense_Mutation	SNP	G	C3N-00175_TP	1808585	100033646	59312327	633	10783											
MBLAC1	0	.	GRCh38	chr7	100128153	100128153	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggtggagggaacagccAgcaggagccggtggtcggag	9	3	22	7	2	0	0	0	0	0	0	1	5	0	5	2	8	4	1	2	8	1	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.758A>T	p.Gln253Leu	p.Q253L	ENST00000398075	2/2	118	85	33	142	142	0	strelka-varscan-mutect	MBLAC1,missense_variant,p.Gln253Leu,ENST00000398075,NM_203397.1;CNPY4,downstream_gene_variant,,ENST00000262932,NM_152755.1;MBLAC1,downstream_gene_variant,,ENST00000421390,;RP11-506M12.1,upstream_gene_variant,,ENST00000494221,;AC073842.19,upstream_gene_variant,,ENST00000376482,;CNPY4,downstream_gene_variant,,ENST00000480692,;CNPY4,downstream_gene_variant,,ENST00000462193,;	T	ENST00000398075	Transcript	missense_variant	1157/1502	758/801	253/266	Q/L	cAg/cTg		1		1	MBLAC1	HGNC	HGNC:22180	protein_coding	YES	CCDS43620.1	ENSP00000381150	A4D2B0		UPI000013FF40	NM_203397.1	tolerated_low_confidence(0.3)		2/2		hmmpanther:PTHR23200:SF47,hmmpanther:PTHR23200																	MODERATE	1	SNV	1			1										PASS		rs775928467	.												T	3	4	39	100128153	100128153	A	T	1	0	0	0	0	1	0	0	0	9283	188	7	4		4	MBLAC1	7	100128153	Missense_Mutation	SNP	A	C3N-00175_TP	94507	100128153	59217820	634	10784											
STAG3	0	.	GRCh38	chr7	100200970	100200970	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcttgaagagctgttacagGtaggagctggggctggacaa	11	8	16	6	0	0	2	0	1	0	1	0	4	0	4	0	5	4	6	0	5	4	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2061+1G>C		p.X687_splice	ENST00000615138		129	110	19	150	150	0	strelka-varscan-mutect	STAG3,splice_donor_variant,,ENST00000426455,NM_001282716.1;STAG3,splice_donor_variant,,ENST00000615138,NM_001282717.1;STAG3,splice_donor_variant,,ENST00000620100,;STAG3,splice_donor_variant,,ENST00000317296,NM_012447.3;STAG3,splice_donor_variant,,ENST00000394018,NM_001282718.1;GATS,3_prime_UTR_variant,,ENST00000436886,NM_178831.6;GATS,downstream_gene_variant,,ENST00000454084,;STAG3,upstream_gene_variant,,ENST00000412190,;STAG3,splice_donor_variant,,ENST00000440830,;STAG3,splice_donor_variant,,ENST00000491498,;GATS,downstream_gene_variant,,ENST00000440058,;GATS,downstream_gene_variant,,ENST00000414997,;GATS,downstream_gene_variant,,ENST00000437485,;STAG3,splice_donor_variant,,ENST00000496157,;STAG3,splice_donor_variant,,ENST00000479359,;GATS,3_prime_UTR_variant,,ENST00000328453,;GATS,3_prime_UTR_variant,,ENST00000543273,;STAG3,upstream_gene_variant,,ENST00000451963,;STAG3,downstream_gene_variant,,ENST00000477469,;STAG3,downstream_gene_variant,,ENST00000476057,;	C	ENST00000615138	Transcript	splice_donor_variant	-/4380	2061/3681	687/1226				1		1	STAG3	HGNC	HGNC:11356	protein_coding	YES	CCDS75642.1	ENSP00000477973		D6W5U7	UPI000048108A	NM_001282717.1				19/33																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	39	100200970	100200970	G	C	1	0	0	0	0	0	0	1	0	15622	1275	44	4		4	STAG3	7	100200970	Splice_Site	SNP	G	C3N-00175_TP	72817	100200970	59145003	635	10785											
NYAP1	0	.	GRCh38	chr7	100488660	100488660	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcccgagccggagggacggGacgcccaccaagaccactcc	9	2	12	18	4	0	1	0	0	0	1	2	5	2	4	6	3	1	0	6	3	1	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.939G>T	p.=	p.G313G	ENST00000300179	4/7	100	90	10	123	123	0	strelka-varscan-mutect	NYAP1,synonymous_variant,p.=,ENST00000300179,NM_173564.3;NYAP1,synonymous_variant,p.=,ENST00000454988,;NYAP1,upstream_gene_variant,,ENST00000496985,;NYAP1,upstream_gene_variant,,ENST00000489641,;	T	ENST00000300179	Transcript	synonymous_variant	1098/3581	939/2526	313/841	G	ggG/ggT		1		1	NYAP1	HGNC	HGNC:22009	protein_coding	YES	CCDS5696.1	ENSP00000300179	Q6ZVC0		UPI00001C0A2E	NM_173564.3			4/7		Pfam_domain:PF15439,hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF2																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	39	100488660	100488660	G	T	1	0	0	0	0	0	0	0	1	10872	1161	41	2		2	NYAP1	7	100488660	Silent	SNP	G	C3N-00175_TP	287690	100488660	58857313	636	10786											
NYAP1	0	.	GRCh38	chr7	100489569	100489569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagcgcagggacaccagaGgaggaagaagaggaggtggg	13	1	20	7	1	0	3	0	0	0	3	0	7	0	7	2	6	1	1	2	6	2	0	rs150286597		C3N-00175_TP	C3N-00175_NB	G	G																c.1848G>T	p.Glu616Asp	p.E616D	ENST00000300179	4/7	155	120	35	195	195	0	strelka-varscan-mutect	NYAP1,missense_variant,p.Glu616Asp,ENST00000300179,NM_173564.3;NYAP1,missense_variant,p.Glu559Asp,ENST00000454988,;NYAP1,upstream_gene_variant,,ENST00000496985,;NYAP1,upstream_gene_variant,,ENST00000489641,;	T	ENST00000300179	Transcript	missense_variant	2007/3581	1848/2526	616/841	E/D	gaG/gaT	rs150286597,COSM5105581	1		1	NYAP1	HGNC	HGNC:22009	protein_coding	YES	CCDS5696.1	ENSP00000300179	Q6ZVC0		UPI00001C0A2E	NM_173564.3	tolerated(0.52)		4/7		Pfam_domain:PF15452,hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF2,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs150286597	.												T	3	4	39	100489569	100489569	G	T	1	0	0	0	0	1	0	0	0	10872	991	35	2		2	NYAP1	7	100489569	Missense_Mutation	SNP	G	C3N-00175_TP	909	100489569	58856404	637	10787											
AGFG2	0	.	GRCh38	chr7	100555726	100555726	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcgttccaggcccagccaActcctgcaggtaaactctgc	8	8	8	17	1	1	0	0	0	1	0	4	0	3	0	5	2	5	3	5	2	3	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.868A>T	p.Thr290Ser	p.T290S	ENST00000300176	6/12	153	110	43	144	144	0	strelka-varscan-mutect	AGFG2,missense_variant,p.Thr290Ser,ENST00000300176,NM_006076.4;AGFG2,missense_variant,p.Thr21Ser,ENST00000429987,;AGFG2,non_coding_transcript_exon_variant,,ENST00000474713,;AGFG2,3_prime_UTR_variant,,ENST00000430857,;AGFG2,non_coding_transcript_exon_variant,,ENST00000477022,;	T	ENST00000300176	Transcript	missense_variant	990/4796	868/1446	290/481	T/S	Act/Tct		1		1	AGFG2	HGNC	HGNC:5177	protein_coding	YES	CCDS5697.1	ENSP00000300176	O95081	A4D2D6	UPI000003E7D5	NM_006076.4	tolerated(0.14)		6/12		hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF233																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	100555726	100555726	A	T	1	0	0	0	0	1	0	0	0	458	43	2	4		4	AGFG2	7	100555726	Missense_Mutation	SNP	A	C3N-00175_TP	66157	100555726	58790247	638	10788											
FBXL13	0	.	GRCh38	chr7	102968103	102968103	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attatcacatcttttaaactGaggtagaagaaaatctaaac	18	12	5	6	0	3	3	1	1	2	2	3	3	3	3	0	1	2	1	0	1	9	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.510C>T	p.=	p.L170L	ENST00000313221	7/20	87	81	6	98	98	0	strelka-varscan-mutect	FBXL13,synonymous_variant,p.=,ENST00000313221,NM_145032.3;FBXL13,synonymous_variant,p.=,ENST00000379308,;FBXL13,synonymous_variant,p.=,ENST00000436908,;FBXL13,synonymous_variant,p.=,ENST00000379305,NM_001287150.1;FBXL13,synonymous_variant,p.=,ENST00000455112,NM_001111038.1;FBXL13,synonymous_variant,p.=,ENST00000456695,;FBXL13,non_coding_transcript_exon_variant,,ENST00000471074,;FBXL13,non_coding_transcript_exon_variant,,ENST00000477915,;FBXL13,synonymous_variant,p.=,ENST00000448002,;	A	ENST00000313221	Transcript	synonymous_variant	937/2744	510/2208	170/735	L	ctC/ctT		1		-1	FBXL13	HGNC	HGNC:21658	protein_coding	YES	CCDS5726.1	ENSP00000321927	Q8NEE6		UPI000020F830	NM_145032.3			7/20		Gene3D:3.80.10.10,PROSITE_profiles:PS50181,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF485,Superfamily_domains:SSF81383																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	39	102968103	102968103	G	A	1	0	0	0	0	0	0	0	1	5573	1277	45	3		3	FBXL13	7	102968103	Silent	SNP	G	C3N-00175_TP	2412377	102968103	56377870	639	10789											
SLC26A4	0	.	GRCh38	chr7	107661741	107661742	+	Frame_Shift_Ins	INS	-	-	TGTTT																															cagcgagctcgctttccagcINSaacagcacgagcggcgcctg																								novel		C3N-00175_TP	C3N-00175_NB	-	-																c.100_101insTGTTT	p.Gln34LeufsTer34	p.Q34Lfs*34	ENST00000265715	2/21	278	220	58	315	315	0	sindel-varindel-pindel	SLC26A4,frameshift_variant,p.Gln34LeufsTer34,ENST00000265715,NM_000441.1;SLC26A4,frameshift_variant,p.Gln34LeufsTer34,ENST00000440056,;SLC26A4-AS1,non_coding_transcript_exon_variant,,ENST00000440512,;SLC26A4-AS1,non_coding_transcript_exon_variant,,ENST00000629014,;SLC26A4-AS1,non_coding_transcript_exon_variant,,ENST00000630476,;SLC26A4-AS1,non_coding_transcript_exon_variant,,ENST00000626388,;SLC26A4-AS1,non_coding_transcript_exon_variant,,ENST00000627161,;SLC26A4-AS1,non_coding_transcript_exon_variant,,ENST00000449741,;SLC26A4-AS1,non_coding_transcript_exon_variant,,ENST00000587899,;SLC26A4-AS1,intron_variant,,ENST00000591896,;	TGTTT	ENST00000265715	Transcript	frameshift_variant	324-325/4930	100-101/2343	34/780	Q/LFX	caa/cTGTTTaa		1		1	SLC26A4	HGNC	HGNC:8818	protein_coding	YES	CCDS5746.1	ENSP00000265715	O43511		UPI00001315A4	NM_000441.1			2/21		hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF33																	HIGH	1	insertion	1			1										PASS		.	.												TGTTT	7	5	39	107661741	107661741	-	TGTTT	1	0	1	1	0	0	0	0	0	14789	711	25	0		0	SLC26A4	7	107661741	Frame_Shift_Ins	INS	-	C3N-00175_TP	4693638	107661741	51684232	640	10790											
SLC26A4	0	.	GRCh38	chr7	107695972	107695972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtatagtgtccatcattctgGggctggatctcggtttacta	7	15	11	8	1	3	0	1	0	2	0	5	1	4	1	1	4	1	3	1	4	4	6	rs767561443		C3N-00175_TP	C3N-00175_NB	G	G																c.1477G>T	p.Gly493Trp	p.G493W	ENST00000265715	13/21	381	287	94	338	337	1	strelka-varscan-mutect	SLC26A4,missense_variant,p.Gly493Trp,ENST00000265715,NM_000441.1;SLC26A4,non_coding_transcript_exon_variant,,ENST00000480841,;SLC26A4,non_coding_transcript_exon_variant,,ENST00000497446,;SLC26A4,non_coding_transcript_exon_variant,,ENST00000477350,;SLC26A4,upstream_gene_variant,,ENST00000492030,;SLC26A4,downstream_gene_variant,,ENST00000460748,;	T	ENST00000265715	Transcript	missense_variant	1701/4930	1477/2343	493/780	G/W	Ggg/Tgg	rs767561443	1		1	SLC26A4	HGNC	HGNC:8818	protein_coding	YES	CCDS5746.1	ENSP00000265715	O43511		UPI00001315A4	NM_000441.1	deleterious(0)		13/21		hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF33,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00815,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs767561443	.												T	3	4	39	107695972	107695972	G	T	1	0	0	0	0	1	0	0	0	14789	1232	43	2		2	SLC26A4	7	107695972	Missense_Mutation	SNP	G	C3N-00175_TP	34231	107695972	51650001	641	10791											
LAMB4	0	.	GRCh38	chr7	108106539	108106539	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggctataagggttttcaaTttcaaaactgggatccaaaa	14	11	10	6	0	2	0	2	0	0	0	3	1	3	1	1	4	1	2	1	4	7	5	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.625A>T	p.Ile209Phe	p.I209F	ENST00000388781	7/34	92	69	23	151	151	0	strelka-varscan-mutect	LAMB4,missense_variant,p.Ile209Phe,ENST00000388781,NM_007356.2;LAMB4,missense_variant,p.Ile209Phe,ENST00000205386,NM_001318046.1;LAMB4,missense_variant,p.Ile209Phe,ENST00000418464,NM_001318048.1;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;	A	ENST00000388781	Transcript	missense_variant	709/5858	625/5286	209/1761	I/F	Att/Ttt		1		-1	LAMB4	HGNC	HGNC:6491	protein_coding	YES	CCDS34732.1	ENSP00000373433	A4D0S4		UPI0000198CD5	NM_007356.2	deleterious(0)		7/34		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF279,SMART_domains:SM00136																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	108106539	108106539	T	A	1	0	0	0	0	1	0	0	0	8517	1493	52	4		4	LAMB4	7	108106539	Missense_Mutation	SNP	T	C3N-00175_TP	410567	108106539	51239434	642	10792											
PPP1R3A	0	.	GRCh38	chr7	113918650	113918650	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgttgcataagatcttctTttgaagaaggcaagtcaaac	13	13	9	6	0	3	3	1	1	2	2	3	3	3	3	0	1	2	4	0	1	5	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.347A>T	p.Lys116Ile	p.K116I	ENST00000284601	1/4	431	333	98	513	513	0	strelka-varscan-mutect	PPP1R3A,missense_variant,p.Lys116Ile,ENST00000284601,NM_002711.3;PPP1R3A,intron_variant,,ENST00000449795,;PPP1R3A,intron_variant,,ENST00000284602,;	A	ENST00000284601	Transcript	missense_variant	416/4384	347/3369	116/1122	K/I	aAa/aTa		1		-1	PPP1R3A	HGNC	HGNC:9291	protein_coding	YES	CCDS5759.1	ENSP00000284601	Q16821		UPI000013DDAA	NM_002711.3	deleterious(0)		1/4		hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	113918650	113918650	T	A	1	0	0	0	0	1	0	0	0	12492	1841	64	4		4	PPP1R3A	7	113918650	Missense_Mutation	SNP	T	C3N-00175_TP	5812111	113918650	45427323	643	10793											
FOXP2	0	.	GRCh38	chr7	114642429	114642429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggcttaagtcctgctgaGattcagcagttatggaaaga	11	11	12	7	0	1	2	1	1	0	2	2	4	2	3	1	2	2	5	1	2	3	3			C3N-00175_TP	C3N-00175_NB	G	G																c.870G>C	p.Glu290Asp	p.E290D	ENST00000408937	8/18	286	263	23	312	312	0	strelka-mutect	FOXP2,missense_variant,p.Glu290Asp,ENST00000408937,NM_148898.3;FOXP2,missense_variant,p.Glu282Asp,ENST00000403559,NM_148900.3;FOXP2,missense_variant,p.Glu173Asp,ENST00000393491,;FOXP2,missense_variant,p.Glu262Asp,ENST00000635534,;FOXP2,missense_variant,p.Glu248Asp,ENST00000634411,;FOXP2,missense_variant,p.Glu265Asp,ENST00000393494,;FOXP2,missense_variant,p.Glu265Asp,ENST00000350908,NM_001172766.2,NM_014491.3;FOXP2,missense_variant,p.Glu244Asp,ENST00000393498,;FOXP2,missense_variant,p.Glu266Asp,ENST00000635638,;FOXP2,missense_variant,p.Glu173Asp,ENST00000393489,;FOXP2,missense_variant,p.Glu265Asp,ENST00000378237,;FOXP2,missense_variant,p.Glu245Asp,ENST00000634623,;FOXP2,missense_variant,p.Glu289Asp,ENST00000390668,NM_001172767.2;FOXP2,missense_variant,p.Glu265Asp,ENST00000360232,NM_148899.3;FOXP2,missense_variant,p.Glu119Asp,ENST00000393495,;FOXP2,missense_variant,p.Glu112Asp,ENST00000635563,;FOXP2,intron_variant,,ENST00000634372,;FOXP2,3_prime_UTR_variant,,ENST00000441290,;FOXP2,3_prime_UTR_variant,,ENST00000412402,;FOXP2,3_prime_UTR_variant,,ENST00000635109,;	C	ENST00000408937	Transcript	missense_variant	1244/6443	870/2223	290/740	E/D	gaG/gaC	COSM1622235,COSM3662865,COSM3662866	1		1	FOXP2	HGNC	HGNC:13875	protein_coding	YES	CCDS43635.1	ENSP00000386200	O15409	X5D2H2	UPI000007412B	NM_148898.3	tolerated(0.75)		8/18													1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												C	3	2	39	114642429	114642429	G	C	1	0	0	0	0	1	0	0	0	5892	933	33	4		4	FOXP2	7	114642429	Missense_Mutation	SNP	G	C3N-00175_TP	723779	114642429	44703544	644	10794											
MET	0	.	GRCh38	chr7	116771857	116771857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgttttaagatctgggcAgtgaattagttcgctacgat	9	15	10	7	2	2	2	0	1	2	1	3	3	2	2	0	1	1	4	0	1	4	5	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2950A>G	p.Ser984Gly	p.S984G	ENST00000318493	14/21	433	347	86	456	456	0	strelka-varscan-mutect	MET,missense_variant,p.Ser966Gly,ENST00000397752,NM_000245.2;MET,missense_variant,p.Ser984Gly,ENST00000318493,NM_001127500.1;MET,intron_variant,,ENST00000454623,;MET,downstream_gene_variant,,ENST00000422097,;	G	ENST00000318493	Transcript	missense_variant	3137/4632	2950/4227	984/1408	S/G	Agt/Ggt		1		1	MET	HGNC	HGNC:7029	protein_coding	YES	CCDS47689.1	ENSP00000317272	P08581	A0A024R728	UPI000014033E	NM_001127500.1	tolerated(0.28)		14/21		hmmpanther:PTHR24416:SF332,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000617																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	116771857	116771857	A	G	1	0	0	0	0	1	0	0	0	9430	188	7	5		5	MET	7	116771857	Missense_Mutation	SNP	A	C3N-00175_TP	2129428	116771857	42574116	645	10795											
CTTNBP2	0	.	GRCh38	chr7	117760694	117760694	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacccactgaaatccttaaGggtattttaagagcatctgt	12	13	7	9	0	2	2	1	1	1	1	3	2	3	2	2	1	1	2	2	1	4	4	rs759214218		C3N-00175_TP	C3N-00175_NB	G	G																c.2913C>T	p.=	p.P971P	ENST00000160373	10/23	98	70	28	97	97	0	strelka-varscan-mutect	CTTNBP2,synonymous_variant,p.=,ENST00000160373,NM_033427.2;CTTNBP2,synonymous_variant,p.=,ENST00000446636,;CTTNBP2,upstream_gene_variant,,ENST00000435233,;CTTNBP2,upstream_gene_variant,,ENST00000416239,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;CTTNBP2,non_coding_transcript_exon_variant,,ENST00000467088,;CTTNBP2,upstream_gene_variant,,ENST00000482124,;	A	ENST00000160373	Transcript	synonymous_variant	3005/5970	2913/4992	971/1663	P	ccC/ccT	rs759214218	1		-1	CTTNBP2	HGNC	HGNC:15679	protein_coding	YES	CCDS5774.1	ENSP00000160373	Q8WZ74	Q20BG9	UPI000006E94A	NM_033427.2			10/23		hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF27																	LOW	1	SNV	1			1										PASS		rs759214218	.												A	2	1	39	117760694	117760694	G	A	1	0	0	0	0	0	0	0	1	3854	987	35	3		3	CTTNBP2	7	117760694	Silent	SNP	G	C3N-00175_TP	988837	117760694	41585279	646	10796											
PTPRZ1	0	.	GRCh38	chr7	122040974	122040974	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggcctgttgtcgtccaCtgcaggtgagtctcagagat	6	11	15	9	1	1	2	1	1	1	1	4	3	2	2	2	3	1	2	2	3	0	1	rs371838082		C3N-00175_TP	C3N-00175_NB	C	C																c.5796C>G	p.His1932Gln	p.H1932Q	ENST00000393386	21/30	44	33	11	34	34	0	strelka-varscan-mutect	PTPRZ1,missense_variant,p.His1932Gln,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,missense_variant,p.His1065Gln,ENST00000449182,NM_001206839.1;PTPRZ1,downstream_gene_variant,,ENST00000468641,;PTPRZ1,downstream_gene_variant,,ENST00000470504,;	G	ENST00000393386	Transcript	missense_variant	6207/8175	5796/6948	1932/2315	H/Q	caC/caG	rs371838082	1		1	PTPRZ1	HGNC	HGNC:9685	protein_coding	YES	CCDS34740.1	ENSP00000377047	P23471		UPI000020F9BB	NM_001206838.1,NM_002851.2	deleterious(0)		21/30		PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214,PROSITE_patterns:PS00383,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00404,SMART_domains:SM00194,Superfamily_domains:SSF52799,Prints_domain:PR00700																	MODERATE	1	SNV	1			1										PASS		rs371838082	.												G	3	3	39	122040974	122040974	C	G	1	0	0	0	0	1	0	0	0	12969	579	20	4		4	PTPRZ1	7	122040974	Missense_Mutation	SNP	C	C3N-00175_TP	4280280	122040974	37304999	647	10797											
SPAM1	0	.	GRCh38	chr7	123953928	123953928	+	Frame_Shift_Del	DEL	T	T	-																															gaatcccccagaagatttccTtacaagaccatctggacaaa																								novel		C3N-00175_TP	C3N-00175_NB	T	T																c.359delT	p.Leu120TyrfsTer18	p.L120Yfs*18	ENST00000340011	3/7	184	141	43	207	207	0	sindel-varindel-pindel	SPAM1,frameshift_variant,p.Leu120TyrfsTer18,ENST00000340011,NM_003117.4;SPAM1,frameshift_variant,p.Leu120TyrfsTer18,ENST00000439500,NM_001174046.1,NM_001174045.1;SPAM1,frameshift_variant,p.Leu120TyrfsTer18,ENST00000460182,NM_001174044.1,NM_153189.2;SPAM1,frameshift_variant,p.Leu120TyrfsTer18,ENST00000223028,;SPAM1,frameshift_variant,p.Leu120TyrfsTer18,ENST00000402183,;SPAM1,downstream_gene_variant,,ENST00000413927,;	-	ENST00000340011	Transcript	frameshift_variant	715/2349	358/1536	120/511	L/X	Tta/ta		1		1	SPAM1	HGNC	HGNC:11217	protein_coding	YES	CCDS5790.1	ENSP00000345849	P38567		UPI0000072166	NM_003117.4			3/7		hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF20,PIRSF_domain:PIRSF500773,PIRSF_domain:PIRSF038193,Gene3D:3.20.20.70,Pfam_domain:PF01630,Superfamily_domains:SSF51445,Prints_domain:PR00846																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	39	123953928	123953928	T	-	1	0	1	0	1	0	0	0	0	15317	1606	56	0		0	SPAM1	7	123953928	Frame_Shift_Del	DEL	T	C3N-00175_TP	1912954	123953928	35392045	648	10798											
SPAM1	0	.	GRCh38	chr7	123954033	123954033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagaatggagacccacttggGcaagaaactggaaacctaaa	18	5	10	8	0	0	3	0	0	0	3	0	5	0	4	2	3	2	1	2	3	7	2	rs764517940		C3N-00175_TP	C3N-00175_NB	G	G																c.463G>T	p.Ala155Ser	p.A155S	ENST00000340011	3/7	218	164	54	208	208	0	strelka-varscan-mutect	SPAM1,missense_variant,p.Ala155Ser,ENST00000340011,NM_003117.4;SPAM1,missense_variant,p.Ala155Ser,ENST00000439500,NM_001174046.1,NM_001174045.1;SPAM1,missense_variant,p.Ala155Ser,ENST00000460182,NM_001174044.1,NM_153189.2;SPAM1,missense_variant,p.Ala155Ser,ENST00000223028,;SPAM1,missense_variant,p.Ala155Ser,ENST00000402183,;SPAM1,downstream_gene_variant,,ENST00000413927,;	T	ENST00000340011	Transcript	missense_variant	820/2349	463/1536	155/511	A/S	Gca/Tca	rs764517940	1		1	SPAM1	HGNC	HGNC:11217	protein_coding	YES	CCDS5790.1	ENSP00000345849	P38567		UPI0000072166	NM_003117.4	tolerated(0.24)		3/7		hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF20,PIRSF_domain:PIRSF500773,PIRSF_domain:PIRSF038193,Gene3D:3.20.20.70,Pfam_domain:PF01630,Superfamily_domains:SSF51445,Prints_domain:PR00846																	MODERATE	1	SNV	1			1										PASS		rs764517940	.												T	3	4	39	123954033	123954033	G	T	1	0	0	0	0	1	0	0	0	15317	1203	42	2		2	SPAM1	7	123954033	Missense_Mutation	SNP	G	C3N-00175_TP	105	123954033	35391940	649	10799											
POT1	0	.	GRCh38	chr7	124853079	124853079	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacttaacattgtctgattCtctgaattcattgattgaag	13	16	6	6	0	3	4	1	4	2	0	4	4	3	4	0	0	2	0	0	0	4	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.762G>A	p.=	p.E254E	ENST00000357628	10/19	146	133	13	153	153	0	strelka-mutect	POT1,synonymous_variant,p.=,ENST00000357628,NM_015450.2;POT1,synonymous_variant,p.=,ENST00000393329,NM_001042594.1;POT1,synonymous_variant,p.=,ENST00000610141,;POT1,synonymous_variant,p.=,ENST00000609106,;POT1,synonymous_variant,p.=,ENST00000608057,;POT1,synonymous_variant,p.=,ENST00000607932,;POT1,non_coding_transcript_exon_variant,,ENST00000608126,;	T	ENST00000357628	Transcript	synonymous_variant	1361/4080	762/1905	254/634	E	gaG/gaA		1		-1	POT1	HGNC	HGNC:17284	protein_coding	YES	CCDS5793.1	ENSP00000350249	Q9NUX5	A0A024R739	UPI0000073E3F	NM_015450.2			10/19		Gene3D:1xjvA02,Pfam_domain:PF16686,hmmpanther:PTHR14513,hmmpanther:PTHR14513:SF2,Superfamily_domains:SSF50249																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	39	124853079	124853079	C	T	1	0	0	0	0	0	0	0	1	12374	912	32	3		3	POT1	7	124853079	Silent	SNP	C	C3N-00175_TP	899046	124853079	34492894	650	10800											
FSCN3	0	.	GRCh38	chr7	127595371	127595371	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgactaaagagcgtgcAgggcctctacctgctgtgtg	7	9	15	10	2	1	1	0	0	1	1	1	2	1	1	2	2	5	2	2	2	3	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.209A>G	p.Gln70Arg	p.Q70R	ENST00000265825	2/7	154	129	25	182	182	0	strelka-varscan-mutect	FSCN3,missense_variant,p.Gln70Arg,ENST00000265825,NM_020369.2;FSCN3,5_prime_UTR_variant,,ENST00000478821,;ARF5,downstream_gene_variant,,ENST00000000233,NM_001662.3;ARF5,downstream_gene_variant,,ENST00000415666,;FSCN3,non_coding_transcript_exon_variant,,ENST00000478328,;GCC1,upstream_gene_variant,,ENST00000497650,;GCC1,upstream_gene_variant,,ENST00000473728,;FSCN3,3_prime_UTR_variant,,ENST00000421705,;ARF5,downstream_gene_variant,,ENST00000463733,;FSCN3,upstream_gene_variant,,ENST00000469242,;ARF5,downstream_gene_variant,,ENST00000489673,;	G	ENST00000265825	Transcript	missense_variant	428/2238	209/1497	70/498	Q/R	cAg/cGg		1		1	FSCN3	HGNC	HGNC:3961	protein_coding	YES	CCDS34746.1	ENSP00000265825	Q9NQT6	A0A140VK18	UPI000012AC5F	NM_020369.2	tolerated(0.83)		2/7		hmmpanther:PTHR10551,hmmpanther:PTHR10551:SF1,PIRSF_domain:PIRSF005682,Gene3D:2.80.10.50,Pfam_domain:PF06268,Superfamily_domains:SSF50405																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	127595371	127595371	A	G	1	0	0	0	0	1	0	0	0	5942	188	7	5		5	FSCN3	7	127595371	Missense_Mutation	SNP	A	C3N-00175_TP	2742292	127595371	31750602	651	10801											
PRRT4	0	.	GRCh38	chr7	128350946	128350946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcaaggcctcctcggcCtgcagctcagaagcaggctc	8	6	12	15	1	1	1	1	0	0	1	4	1	2	1	3	3	5	6	3	3	2	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2610G>T	p.Gln870His	p.Q870H	ENST00000446477	6/6	364	265	99	344	344	0	strelka-varscan-mutect	PRRT4,missense_variant,p.Gln870His,ENST00000446477,NM_001174164.1;PRRT4,missense_variant,p.Gln870His,ENST00000535159,;PRRT4,missense_variant,p.Arg400Met,ENST00000480290,;PRRT4,3_prime_UTR_variant,,ENST00000489835,NM_001114726.2;PRRT4,downstream_gene_variant,,ENST00000489517,;	A	ENST00000446477	Transcript	missense_variant	2924/3544	2610/2700	870/899	Q/H	caG/caT		1		-1	PRRT4	HGNC	HGNC:37280	protein_coding	YES	CCDS55160.1	ENSP00000415026	C9JH25		UPI0000DD7E1D	NM_001174164.1	deleterious(0.04)		6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR35578,hmmpanther:PTHR35578:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	128350946	128350946	C	A	1	0	0	0	0	1	0	0	0	12758	680	24	2		2	PRRT4	7	128350946	Missense_Mutation	SNP	C	C3N-00175_TP	755575	128350946	30995027	652	10802											
FLNC	0	.	GRCh38	chr7	128830976	128830976	+	Frame_Shift_Del	DEL	G	G	-																															ctcgagcgcgagcacatcaaGctcgtgtccataggtcagtg																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.339delG	p.Lys113AsnfsTer5	p.K113Nfs*5	ENST00000325888	1/48	207	158	49	248	248	0	sindel-varindel-pindel	FLNC,frameshift_variant,p.Lys113AsnfsTer5,ENST00000325888,NM_001458.4;FLNC,frameshift_variant,p.Lys113AsnfsTer5,ENST00000346177,NM_001127487.1;	-	ENST00000325888	Transcript	frameshift_variant	600/9188	339/8178	113/2725	K/X	aaG/aa		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4			1/48		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00033,Superfamily_domains:SSF47576																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	39	128830976	128830976	G	-	1	0	1	0	1	0	0	0	0	5791	962	34	0		0	FLNC	7	128830976	Frame_Shift_Del	DEL	G	C3N-00175_TP	480030	128830976	30514997	653	10803											
CPA5	0	.	GRCh38	chr7	130346569	130346569	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcttcagctttatcctGgcagcagctttgggccaaat	7	13	10	11	0	2	0	1	0	1	0	3	0	3	0	2	3	3	4	2	3	2	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.84G>T	p.=	p.L28L	ENST00000485477	2/12	178	138	40	166	165	1	strelka-varscan-mutect	CPA5,synonymous_variant,p.=,ENST00000485477,;CPA5,synonymous_variant,p.=,ENST00000466363,;CPA5,synonymous_variant,p.=,ENST00000474905,NM_080385.4,NM_001127441.1;CPA5,synonymous_variant,p.=,ENST00000431780,NM_001127442.1;CPA5,synonymous_variant,p.=,ENST00000461828,NM_001318223.1;CPA5,synonymous_variant,p.=,ENST00000393213,;CPA5,synonymous_variant,p.=,ENST00000463587,;CPA5,synonymous_variant,p.=,ENST00000494311,;CPA5,downstream_gene_variant,,ENST00000497503,;CPA5,non_coding_transcript_exon_variant,,ENST00000495736,;	T	ENST00000485477	Transcript	synonymous_variant	1213/2573	84/1311	28/436	L	ctG/ctT		1		1	CPA5	HGNC	HGNC:15722	protein_coding	YES	CCDS5819.1	ENSP00000420237	Q8WXQ8	A4D1M2	UPI000000D837				2/12		hmmpanther:PTHR11705:SF16,hmmpanther:PTHR11705																	LOW	1	SNV	1			1										PASS		rs1199541584	.												T	2	4	39	130346569	130346569	G	T	1	0	0	0	0	0	0	0	1	3587	1335	47	2		2	CPA5	7	130346569	Silent	SNP	G	C3N-00175_TP	1515593	130346569	28999404	654	10804											
LRGUK	0	.	GRCh38	chr7	134199250	134199250	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttgaaatattcctattttGagcctcgttatatcctggtg	8	18	8	7	1	0	2	0	2	0	0	3	2	2	2	3	1	1	2	3	1	5	8	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1576G>C	p.Glu526Gln	p.E526Q	ENST00000285928	14/20	272	228	44	297	297	0	strelka-varscan-mutect	LRGUK,missense_variant,p.Glu526Gln,ENST00000285928,NM_144648.1;	C	ENST00000285928	Transcript	missense_variant	1645/3163	1576/2478	526/825	E/Q	Gag/Cag		1		1	LRGUK	HGNC	HGNC:21964	protein_coding	YES	CCDS5830.1	ENSP00000285928	Q96M69		UPI0000072C76	NM_144648.1	tolerated(0.07)		14/20		PROSITE_profiles:PS50052,Gene3D:3.40.50.300,Pfam_domain:PF00625,SMART_domains:SM00072,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	134199250	134199250	G	C	1	0	0	0	0	1	0	0	0	8837	1291	45	4		4	LRGUK	7	134199250	Missense_Mutation	SNP	G	C3N-00175_TP	3852681	134199250	25146723	655	10805											
CTAGE6	0	.	GRCh38	chr7	143756348	143756348	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattcttcttcaagatctttGgctagctttctataggtctc	8	18	6	9	0	6	1	1	0	5	1	7	1	6	1	0	2	1	2	0	2	5	8	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1311C>A	p.=	p.A437A	ENST00000470691	1/1	593	552	41	625	625	0	varscan-mutect	CTAGE6,synonymous_variant,p.=,ENST00000470691,NM_178561.4;RP11-298A10.1,intron_variant,,ENST00000636919,;RP11-298A10.1,intron_variant,,ENST00000636123,;RNU6-267P,upstream_gene_variant,,ENST00000516714,;	T	ENST00000470691	Transcript	synonymous_variant	1349/2608	1311/2334	437/777	A	gcC/gcA		1		-1	CTAGE6	HGNC	HGNC:28644	protein_coding	YES	CCDS64790.1	ENSP00000474388	Q86UF2		UPI0000199826	NM_178561.4			1/1		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF39																	LOW	1	SNV				1										PASS		rs1266061163	.												T	2	4	39	143756348	143756348	G	T	1	0	0	0	0	0	0	0	1	3800	1335	47	2		2	CTAGE6	7	143756348	Silent	SNP	G	C3N-00175_TP	9557098	143756348	15589625	656	10806											
SSPO	0	.	GRCh38	chr7	149780788	149780788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgcccacagcgtgtgcagGgatggccgctggcactgtgc	5	8	16	12	2	0	0	0	0	0	0	0	1	0	1	2	3	4	3	2	3	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1650G>T	p.Arg550Ser	p.R550S	ENST00000378016	12/107	191	149	42	266	266	0	strelka-varscan-mutect	SSPO,missense_variant,p.Arg550Ser,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,intron_variant,,ENST00000486824,;SSPO,upstream_gene_variant,,ENST00000493502,;	T	ENST00000378016	Transcript	missense_variant	1650/15589	1650/15453	550/5150	R/S	agG/agT		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2	tolerated(0.16)		12/107		SMART_domains:SM00214,SMART_domains:SM00215,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF294																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	149780788	149780788	G	T	1	0	0	0	0	1	0	0	0	15566	1223	43	2		2	SSPO	7	149780788	Missense_Mutation	SNP	G	C3N-00175_TP	6024440	149780788	9565185	657	10807											
SSPO	0	.	GRCh38	chr7	149791896	149791896	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgacgcggcaacggcaGtgccactcaccccagaatgg	11	4	11	15	3	1	2	1	1	0	1	1	2	1	2	4	3	2	2	4	3	2	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.5328G>A	p.=	p.Q1776Q	ENST00000378016	34/107	151	116	35	154	154	0	strelka-varscan-mutect	SSPO,synonymous_variant,p.=,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;	A	ENST00000378016	Transcript	synonymous_variant	5328/15589	5328/15453	1776/5150	Q	caG/caA		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2			34/107		Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895,PROSITE_profiles:PS50092,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF294																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	39	149791896	149791896	G	A	1	0	0	0	0	0	0	0	1	15566	1020	36	3		3	SSPO	7	149791896	Silent	SNP	G	C3N-00175_TP	11108	149791896	9554077	658	10808											
KCNH2	0	.	GRCh38	chr7	150950102	150950102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccagtgactgcatattcaGaaggctcgcacctcttgagg	9	9	10	13	1	2	3	1	2	1	1	3	3	2	3	3	2	1	3	3	2	2	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2116C>T	p.=	p.L706L	ENST00000430723	10/10	337	298	39	371	371	0	strelka-varscan-mutect	KCNH2,synonymous_variant,p.=,ENST00000430723,NM_172056.2;KCNH2,intron_variant,,ENST00000262186,NM_000238.3;KCNH2,intron_variant,,ENST00000330883,NM_172057.2;KCNH2,non_coding_transcript_exon_variant,,ENST00000532957,;KCNH2,non_coding_transcript_exon_variant,,ENST00000473610,;KCNH2,non_coding_transcript_exon_variant,,ENST00000461280,;	A	ENST00000430723	Transcript	synonymous_variant	2445/2648	2116/2319	706/772	L	Ctg/Ttg		1		-1	KCNH2	HGNC	HGNC:6251	protein_coding			ENSP00000387657		Q86U57	UPI0000169E05	NM_172056.2			10/10		PROSITE_profiles:PS50042,SMART_domains:SM00100																	LOW		SNV	5			1										PASS		.	.												A	2	1	39	150950102	150950102	G	A	1	0	0	0	0	0	0	0	1	7948	933	33	3		3	KCNH2	7	150950102	Silent	SNP	G	C3N-00175_TP	1158206	150950102	8395871	659	10809											
ASIC3	0	.	GRCh38	chr7	151049069	151049069	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcctctaccaggtggctGagagggtgcgctactacagg	7	9	13	12	1	1	1	0	1	1	1	2	2	2	1	3	4	4	2	3	4	3	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.184G>C	p.Glu62Gln	p.E62Q	ENST00000297512	1/11	187	164	23	240	240	0	strelka-varscan-mutect	ASIC3,missense_variant,p.Glu62Gln,ENST00000357922,NM_020322.3;ASIC3,missense_variant,p.Glu62Gln,ENST00000349064,NM_004769.3;ASIC3,missense_variant,p.Glu62Gln,ENST00000297512,NM_020321.3;ABCB8,downstream_gene_variant,,ENST00000358849,NM_007188.4;ABCB8,downstream_gene_variant,,ENST00000542328,NM_001282293.1;ABCB8,downstream_gene_variant,,ENST00000297504,NM_001282291.1;ABCB8,downstream_gene_variant,,ENST00000498578,NM_001282292.1;CDK5,downstream_gene_variant,,ENST00000485972,NM_004935.3;CDK5,downstream_gene_variant,,ENST00000297518,NM_001164410.2;ASIC3,upstream_gene_variant,,ENST00000490540,;ASIC3,upstream_gene_variant,,ENST00000485929,;ASIC3,missense_variant,p.Glu62Gln,ENST00000377904,;ASIC3,missense_variant,p.Glu62Gln,ENST00000468325,;ABCB8,downstream_gene_variant,,ENST00000482899,;ABCB8,downstream_gene_variant,,ENST00000466514,;ABCB8,downstream_gene_variant,,ENST00000482309,;ASIC3,upstream_gene_variant,,ENST00000498105,;ASIC3,upstream_gene_variant,,ENST00000474135,;	C	ENST00000297512	Transcript	missense_variant	184/1718	184/1650	62/549	E/Q	Gag/Cag		1		1	ASIC3	HGNC	HGNC:101	protein_coding	YES	CCDS5915.1	ENSP00000297512	Q9UHC3	A0A090N8Q1	UPI00000300F6	NM_020321.3	tolerated(0.11)		1/11		hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF110,Pfam_domain:PF00858																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	151049069	151049069	G	C	1	0	0	0	0	1	0	0	0	1187	1291	45	4		4	ASIC3	7	151049069	Missense_Mutation	SNP	G	C3N-00175_TP	98967	151049069	8296904	660	10810											
PAXIP1	0	.	GRCh38	chr7	154946788	154946788	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggaaagacttgggcagattCcaggtgtgatgtaaaaatat	14	11	12	4	0	0	3	0	1	0	2	1	4	1	4	1	3	0	2	1	3	5	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2948G>C	p.Gly983Ala	p.G983A	ENST00000404141	18/21	177	159	18	210	210	0	strelka-varscan-mutect	PAXIP1,missense_variant,p.Gly983Ala,ENST00000404141,NM_007349.3;PAXIP1,missense_variant,p.Gly983Ala,ENST00000397192,;PAXIP1-AS2,non_coding_transcript_exon_variant,,ENST00000449486,;PAXIP1-AS2,non_coding_transcript_exon_variant,,ENST00000411526,;PAXIP1-AS2,downstream_gene_variant,,ENST00000397551,;RP11-5C23.1,upstream_gene_variant,,ENST00000608064,;PAXIP1,non_coding_transcript_exon_variant,,ENST00000473219,;PAXIP1,3_prime_UTR_variant,,ENST00000457196,;PAXIP1,non_coding_transcript_exon_variant,,ENST00000464717,;	G	ENST00000404141	Transcript	missense_variant	3103/3827	2948/3210	983/1069	G/A	gGa/gCa		1		-1	PAXIP1	HGNC	HGNC:8624	protein_coding	YES	CCDS47753.1	ENSP00000384048	Q6ZW49		UPI00004166F9	NM_007349.3	deleterious(0)		18/21		hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF15,SMART_domains:SM00292																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	39	154946788	154946788	C	G	1	0	0	0	0	1	0	0	0	11573	855	30	4		4	PAXIP1	7	154946788	Missense_Mutation	SNP	C	C3N-00175_TP	3897719	154946788	4399185	661	10811											
DNAJB6	0	.	GRCh38	chr7	157366541	157366541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacaaatatggcaaagaagGattaaatggtggaggaggag	17	7	15	2	0	0	2	0	1	0	1	0	6	0	6	0	6	0	1	0	6	6	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.215G>T	p.Gly72Val	p.G72V	ENST00000262177	4/10	222	179	43	275	274	1	strelka-varscan-mutect	DNAJB6,missense_variant,p.Gly72Val,ENST00000262177,NM_058246.3;DNAJB6,missense_variant,p.Gly72Val,ENST00000429029,NM_005494.2;DNAJB6,missense_variant,p.Gly72Val,ENST00000443280,;DNAJB6,missense_variant,p.Gly72Val,ENST00000441561,;DNAJB6,missense_variant,p.Gly72Val,ENST00000634080,;DNAJB6,missense_variant,p.Gly72Val,ENST00000417758,;DNAJB6,missense_variant,p.Gly72Val,ENST00000453383,;DNAJB6,missense_variant,p.Gly72Val,ENST00000412557,;DNAJB6,downstream_gene_variant,,ENST00000437030,;DNAJB6,downstream_gene_variant,,ENST00000439402,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000486083,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000488001,;DNAJB6,upstream_gene_variant,,ENST00000465908,;DNAJB6,missense_variant,p.Gly72Val,ENST00000459889,;DNAJB6,missense_variant,p.Gly72Val,ENST00000441291,;DNAJB6,upstream_gene_variant,,ENST00000468928,;	T	ENST00000262177	Transcript	missense_variant	420/2527	215/981	72/326	G/V	gGa/gTa		1		1	DNAJB6	HGNC	HGNC:14888	protein_coding	YES	CCDS5946.1	ENSP00000262177	O75190		UPI0000129436	NM_058246.3	deleterious(0)		4/10		Gene3D:1.10.287.110,Prints_domain:PR00625,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF209,Low_complexity_(Seg):seg,Superfamily_domains:SSF46565																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	157366541	157366541	G	T	1	0	0	0	0	1	0	0	0	4438	1174	41	2		2	DNAJB6	7	157366541	Missense_Mutation	SNP	G	C3N-00175_TP	2419753	157366541	1979432	662	10812											
MYOM2	0	.	GRCh38	chr8	2106386	2106386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagaggtttaaaattgaaaCcgtgggggatcagtaagtga	14	10	14	3	1	1	3	1	3	0	1	1	5	1	4	1	3	1	2	1	3	4	4	rs765609218		C3N-00175_TP	C3N-00175_NB	C	C																c.2879C>A	p.Thr960Asn	p.T960N	ENST00000262113	22/37	127	108	19	137	137	0	strelka-varscan-mutect	MYOM2,missense_variant,p.Thr960Asn,ENST00000262113,NM_003970.3;MYOM2,missense_variant,p.Thr385Asn,ENST00000523438,;MYOM2,non_coding_transcript_exon_variant,,ENST00000518203,;MYOM2,non_coding_transcript_exon_variant,,ENST00000517520,;MYOM2,downstream_gene_variant,,ENST00000519372,;MYOM2,upstream_gene_variant,,ENST00000523443,;	A	ENST00000262113	Transcript	missense_variant	3020/5014	2879/4398	960/1465	T/N	aCc/aAc	rs765609218	1		1	MYOM2	HGNC	HGNC:7614	protein_coding	YES	CCDS5957.1	ENSP00000262113	P54296		UPI000442D01B	NM_003970.3	tolerated(0.06)		22/37		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs765609218	.												A	3	1	39	2106386	2106386	C	A	1	0	0	0	0	1	0	0	0	10093	507	18	2		2	MYOM2	8	2106386	Missense_Mutation	SNP	C	C3N-00175_TP		2106386	143032250	663	10813											
RP1L1	0	.	GRCh38	chr8	10610952	10610952	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggcctcggaaactcccTctggagctgccccttggggg	5	7	15	14	1	1	0	0	0	1	0	3	2	2	2	4	6	3	1	4	6	1	1	rs774835263		C3N-00175_TP	C3N-00175_NB	T	T																c.3146A>T	p.Glu1049Val	p.E1049V	ENST00000382483	4/4	376	287	89	193	193	0	strelka-varscan-mutect	RP1L1,missense_variant,p.Glu1049Val,ENST00000382483,NM_178857.5;	A	ENST00000382483	Transcript	missense_variant	3370/7973	3146/7203	1049/2400	E/V	gAg/gTg	rs774835263	1		-1	RP1L1	HGNC	HGNC:15946	protein_coding	YES	CCDS43708.1	ENSP00000371923		A6NKC6	UPI00001AF9CC	NM_178857.5	tolerated(0.27)		4/4		hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF3																	MODERATE	1	SNV	1			1										PASS		rs774835263	.												A	3	1	39	10610952	10610952	T	A	1	0	0	0	0	1	0	0	0	13773	1551	54	4		4	RP1L1	8	10610952	Missense_Mutation	SNP	T	C3N-00175_TP	8504566	10610952	134527684	664	10814											
XKR6	0	.	GRCh38	chr8	10898592	10898592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccttgacgttaaaccagCagaaaatgtacacgatccct	13	10	6	12	2	0	2	0	1	0	1	2	3	2	2	3	0	3	3	3	0	5	4			C3N-00175_TP	C3N-00175_NB	C	C																c.1286G>T	p.Cys429Phe	p.C429F	ENST00000416569	3/3	329	242	87	348	346	2	strelka-varscan-mutect	XKR6,missense_variant,p.Cys429Phe,ENST00000416569,NM_173683.3;XKR6,missense_variant,p.Cys206Phe,ENST00000382461,;	A	ENST00000416569	Transcript	missense_variant	1313/3382	1286/1926	429/641	C/F	tGc/tTc	COSM402968	1		-1	XKR6	HGNC	HGNC:27806	protein_coding	YES	CCDS5978.2	ENSP00000416707	Q5GH73		UPI00004C7A9D	NM_173683.3	deleterious(0)		3/3		Pfam_domain:PF09815,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF7,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	39	10898592	10898592	C	A	1	0	0	0	0	1	0	0	0	17994	710	25	2		2	XKR6	8	10898592	Missense_Mutation	SNP	C	C3N-00175_TP	287640	10898592	134240044	665	10815											
GATA4	0	.	GRCh38	chr8	11708895	11708895	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcacagcctgcccggcCgggccaacccggccgcccga	5	3	12	21	5	0	0	0	0	0	0	1	1	1	0	8	3	4	1	8	3	1	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.583C>A	p.=	p.R195R	ENST00000532059	1/6	341	313	28	194	194	0	strelka-varscan-mutect	GATA4,synonymous_variant,p.=,ENST00000335135,NM_002052.3;GATA4,synonymous_variant,p.=,ENST00000622443,;GATA4,synonymous_variant,p.=,ENST00000532059,NM_001308093.1;GATA4,intron_variant,,ENST00000528712,NM_001308094.1;GATA4,intron_variant,,ENST00000526716,;GATA4,downstream_gene_variant,,ENST00000528027,;GATA4,downstream_gene_variant,,ENST00000532977,;GATA4,downstream_gene_variant,,ENST00000526974,;	A	ENST00000532059	Transcript	synonymous_variant	663/1459	583/1332	195/443	R	Cgg/Agg		1		1	GATA4	HGNC	HGNC:4173	protein_coding	YES	CCDS78303.1	ENSP00000435712	P43694		UPI0000210221	NM_001308093.1			1/6		Pfam_domain:PF05349,PIRSF_domain:PIRSF003028,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF154																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	11708895	11708895	C	A	1	0	0	0	0	0	0	0	1	6126	643	23	1		1	GATA4	8	11708895	Silent	SNP	C	C3N-00175_TP	810303	11708895	133429741	666	10816											
DLC1	0	.	GRCh38	chr8	13085921	13085921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agattttgtgtaccattctgGcatgtggcccctatcagaga	9	13	10	9	0	2	2	1	0	1	2	2	3	2	2	3	2	1	2	3	2	2	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.4477C>G	p.Pro1493Ala	p.P1493A	ENST00000276297	18/18	165	125	40	156	156	0	strelka-varscan-mutect	DLC1,missense_variant,p.Pro1493Ala,ENST00000276297,NM_182643.2;DLC1,missense_variant,p.Pro1056Ala,ENST00000358919,NM_006094.4;DLC1,missense_variant,p.Pro1090Ala,ENST00000512044,;DLC1,missense_variant,p.Pro982Ala,ENST00000520226,NM_001164271.1;DLC1,non_coding_transcript_exon_variant,,ENST00000510318,;DLC1,downstream_gene_variant,,ENST00000521730,;	C	ENST00000276297	Transcript	missense_variant	4887/7447	4477/4587	1493/1528	P/A	Cca/Gca		1		-1	DLC1	HGNC	HGNC:2897	protein_coding	YES	CCDS5989.1	ENSP00000276297	Q96QB1		UPI0000210275	NM_182643.2	deleterious(0)		18/18		Gene3D:3.30.530.20,Pfam_domain:PF01852,PROSITE_profiles:PS50848,hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF2,SMART_domains:SM00234,Superfamily_domains:SSF55961																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	13085921	13085921	G	C	1	0	0	0	0	1	0	0	0	4356	1203	42	4		4	DLC1	8	13085921	Missense_Mutation	SNP	G	C3N-00175_TP	1377026	13085921	132052715	667	10817											
SGCZ	0	.	GRCh38	chr8	14554813	14554813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaacagcagaaggacaaaGaagtataagcacctctttcg	17	6	8	10	1	1	2	0	0	1	2	2	3	1	3	2	1	3	3	2	1	6	3			C3N-00175_TP	C3N-00175_NB	G	G																c.153C>A	p.Phe51Leu	p.F51L	ENST00000382080	2/8	145	116	29	157	157	0	strelka-mutect	SGCZ,missense_variant,p.Phe51Leu,ENST00000382080,NM_139167.2;SGCZ,missense_variant,p.Phe38Leu,ENST00000421524,;	T	ENST00000382080	Transcript	missense_variant	869/2234	153/939	51/312	F/L	ttC/ttA	COSM1096897	1		-1	SGCZ	HGNC	HGNC:14075	protein_coding	YES	CCDS5992.2	ENSP00000371512	Q96LD1		UPI00002339F6	NM_139167.2	tolerated(1)		2/8		Pfam_domain:PF04790,hmmpanther:PTHR12939,hmmpanther:PTHR12939:SF5,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	5		1	1										PASS		rs897307913	.												T	3	4	39	14554813	14554813	G	T	1	0	0	0	0	1	0	0	0	14464	933	33	2		2	SGCZ	8	14554813	Missense_Mutation	SNP	G	C3N-00175_TP	1468892	14554813	130583823	668	10818											
FGF20	0	.	GRCh38	chr8	16993089	16993089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttcaagtgtacatcagtaGgtccttgtacaattctggaa	12	13	8	8	0	3	0	2	0	1	0	4	1	4	1	1	2	2	3	1	2	6	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.619C>T	p.=	p.L207L	ENST00000180166	3/3	129	103	26	162	162	0	strelka-varscan-mutect	FGF20,synonymous_variant,p.=,ENST00000180166,NM_019851.2;FGF20,synonymous_variant,p.=,ENST00000519941,;	A	ENST00000180166	Transcript	synonymous_variant	768/1688	619/636	207/211	L	Cta/Tta		1		-1	FGF20	HGNC	HGNC:3677	protein_coding	YES	CCDS5998.1	ENSP00000180166	Q9NP95		UPI00000374AE	NM_019851.2			3/3		hmmpanther:PTHR11486:SF72,hmmpanther:PTHR11486																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	16993089	16993089	G	A	1	0	0	0	0	0	0	0	1	5713	991	35	3		3	FGF20	8	16993089	Silent	SNP	G	C3N-00175_TP	2438276	16993089	128145547	669	10819											
STC1	0	.	GRCh38	chr8	23854518	23854518	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagcactgctgagttttgGagcattctctgagaagtttc	10	13	11	7	0	1	3	0	2	1	2	3	5	1	4	0	1	3	5	0	1	2	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.6C>A	p.=	p.L2L	ENST00000290271	1/4	130	94	36	150	150	0	strelka-varscan-mutect	STC1,synonymous_variant,p.=,ENST00000290271,NM_003155.2;STC1,upstream_gene_variant,,ENST00000524323,;	T	ENST00000290271	Transcript	synonymous_variant	290/3883	6/744	2/247	L	ctC/ctA		1		-1	STC1	HGNC	HGNC:11373	protein_coding	YES	CCDS6043.1	ENSP00000290271	P52823		UPI00001360B4	NM_003155.2			1/4		hmmpanther:PTHR11245,hmmpanther:PTHR11245:SF1,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		rs1237233643	.												T	2	4	39	23854518	23854518	G	T	1	0	0	0	0	0	0	0	1	15651	1161	41	2		2	STC1	8	23854518	Silent	SNP	G	C3N-00175_TP	6861429	23854518	121284118	670	10820											
NEFL	0	.	GRCh38	chr8	24952848	24952848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgttcctccccagcacCttcaactttcttctcctcct	4	16	3	18	0	3	0	1	0	2	0	7	0	6	0	6	0	3	3	6	0	1	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1594G>T	p.Gly532Cys	p.G532C	ENST00000610854	4/4	205	158	47	243	242	1	strelka-varscan-mutect	NEFL,missense_variant,p.Gly532Cys,ENST00000610854,NM_006158.4;NEFL,3_prime_UTR_variant,,ENST00000619417,;MIR6841,downstream_gene_variant,,ENST00000637129,;CTD-2168K21.2,upstream_gene_variant,,ENST00000607735,;NEFL,downstream_gene_variant,,ENST00000615973,;	A	ENST00000610854	Transcript	missense_variant	2189/4082	1594/1632	532/543	G/C	Ggt/Tgt		1		-1	NEFL	HGNC	HGNC:7739	protein_coding	YES	CCDS75712.1	ENSP00000482169	P07196		UPI00000747CF	NM_006158.4	deleterious_low_confidence(0)		4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF22,hmmpanther:PTHR23239																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	24952848	24952848	C	A	1	0	0	0	0	1	0	0	0	10343	681	24	2		2	NEFL	8	24952848	Missense_Mutation	SNP	C	C3N-00175_TP	1098330	24952848	120185788	671	10821											
NEFL	0	.	GRCh38	chr8	24953537	24953537	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccttctcctcctcctcGgcttctccttcagagggggg	2	14	10	15	1	3	1	1	0	2	1	9	1	6	1	5	4	0	1	5	4	0	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1428C>A	p.=	p.A476A	ENST00000610854	3/4	416	354	62	509	508	1	strelka-varscan-mutect	NEFL,synonymous_variant,p.=,ENST00000610854,NM_006158.4;NEFL,3_prime_UTR_variant,,ENST00000619417,;MIR6841,downstream_gene_variant,,ENST00000637129,;CTD-2168K21.2,upstream_gene_variant,,ENST00000607735,;NEFL,downstream_gene_variant,,ENST00000615973,;	T	ENST00000610854	Transcript	synonymous_variant	2023/4082	1428/1632	476/543	A	gcC/gcA		1		-1	NEFL	HGNC	HGNC:7739	protein_coding	YES	CCDS75712.1	ENSP00000482169	P07196		UPI00000747CF	NM_006158.4			3/4		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF22,hmmpanther:PTHR23239																	LOW	1	SNV	1			1										PASS		rs1455394179	.												T	2	4	39	24953537	24953537	G	T	1	0	0	0	0	0	0	0	1	10343	1103	39	1		1	NEFL	8	24953537	Silent	SNP	G	C3N-00175_TP	689	24953537	120185099	672	10822											
DOCK5	0	.	GRCh38	chr8	25374638	25374638	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctacacgcttctcttgcAcgctgagcttctgcaggtga	6	12	10	13	2	2	2	0	2	2	0	3	2	2	2	1	1	5	5	1	1	1	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.3800A>T	p.His1267Leu	p.H1267L	ENST00000276440	37/52	279	247	32	294	294	0	strelka-varscan-mutect	DOCK5,missense_variant,p.His1267Leu,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.His1039Leu,ENST00000444569,;DOCK5,3_prime_UTR_variant,,ENST00000467709,;	T	ENST00000276440	Transcript	missense_variant	3844/10075	3800/5613	1267/1870	H/L	cAc/cTc		1		1	DOCK5	HGNC	HGNC:23476	protein_coding	YES	CCDS6047.1	ENSP00000276440	Q9H7D0		UPI000022D4F3	NM_024940.6	deleterious(0)		37/52		PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF68,hmmpanther:PTHR23317,Pfam_domain:PF06920																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	25374638	25374638	A	T	1	0	0	0	0	1	0	0	0	4505	159	6	4		4	DOCK5	8	25374638	Missense_Mutation	SNP	A	C3N-00175_TP	421101	25374638	119763998	673	10823											
UNC5D	0	.	GRCh38	chr8	35790516	35790516	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaacatttcagaatccCagcttgatgaagccgacttc	12	11	6	12	1	2	3	2	2	1	1	5	4	3	3	2	0	3	1	2	0	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2815C>A	p.Gln939Lys	p.Q939K	ENST00000404895	17/17	325	235	90	351	351	0	strelka-varscan-mutect	UNC5D,missense_variant,p.Gln870Lys,ENST00000287272,;UNC5D,missense_variant,p.Gln934Lys,ENST00000453357,;UNC5D,missense_variant,p.Gln944Lys,ENST00000416672,;UNC5D,missense_variant,p.Gln939Lys,ENST00000404895,NM_080872.2;UNC5D,missense_variant,p.Gln872Lys,ENST00000420357,;UNC5D,missense_variant,p.Gln515Lys,ENST00000449677,;	A	ENST00000404895	Transcript	missense_variant	3143/3252	2815/2862	939/953	Q/K	Cag/Aag		1		1	UNC5D	HGNC	HGNC:18634	protein_coding	YES	CCDS6093.2	ENSP00000385143	Q6UXZ4		UPI00001D6915	NM_080872.2	tolerated(0.06)		17/17		hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	35790516	35790516	C	A	1	0	0	0	0	1	0	0	0	17519	595	21	2		2	UNC5D	8	35790516	Missense_Mutation	SNP	C	C3N-00175_TP	10415878	35790516	109348120	674	10824											
ADAM9	0	.	GRCh38	chr8	39041947	39041947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcttaatgtttattataggGgttccagaaactttagcagt	11	17	8	5	0	1	1	0	0	1	1	2	1	2	1	1	2	2	3	1	2	6	9	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1132G>T	p.Gly378Cys	p.G378C	ENST00000487273	12/22	217	177	40	285	285	0	strelka-varscan-mutect	ADAM9,missense_variant,p.Gly378Cys,ENST00000487273,NM_003816.2;ADAM9,missense_variant,p.Gly378Cys,ENST00000379917,;ADAM9,missense_variant,p.Gly378Cys,ENST00000481873,;ADAM9,missense_variant,p.Gly378Cys,ENST00000468065,;	T	ENST00000487273	Transcript	missense_variant,splice_region_variant	1210/3839	1132/2460	378/819	G/C	Ggt/Tgt		1		1	ADAM9	HGNC	HGNC:216	protein_coding	YES	CCDS6112.1	ENSP00000419446	Q13443		UPI0000048D87	NM_003816.2	deleterious(0)		12/22		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF136,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	39041947	39041947	G	T	1	0	0	0	0	1	0	0	0	297	1246	43	2		2	ADAM9	8	39041947	Missense_Mutation	SNP	G	C3N-00175_TP	3251431	39041947	106096689	675	10825											
ADAM18	0	.	GRCh38	chr8	39648476	39648476	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaaatcaaccagtgtgTggtaatgggattttggaatc	13	12	10	6	0	2	0	2	0	0	0	3	2	2	2	1	3	1	1	1	3	5	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1179T>A	p.Cys393Ter	p.C393*	ENST00000265707	12/20	84	69	15	163	163	0	strelka-varscan-mutect	ADAM18,stop_gained,p.Cys393Ter,ENST00000265707,NM_014237.2;ADAM18,stop_gained,p.Cys369Ter,ENST00000379866,NM_001320313.1;ADAM18,intron_variant,,ENST00000520087,;	A	ENST00000265707	Transcript	stop_gained	1224/2388	1179/2220	393/739	C/*	tgT/tgA		1		1	ADAM18	HGNC	HGNC:196	protein_coding	YES	CCDS6113.1	ENSP00000265707	Q9Y3Q7		UPI00001254D7	NM_014237.2			12/20		Gene3D:3.40.390.10,PROSITE_profiles:PS50214,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF158																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	39648476	39648476	T	A	1	0	0	0	0	0	1	0	0	283	1702	59	4		4	ADAM18	8	39648476	Nonsense_Mutation	SNP	T	C3N-00175_TP	606529	39648476	105490160	676	10826											
ANK1	0	.	GRCh38	chr8	41693172	41693172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttggtggttcctgttaTgtcttcccactgggcttggt	4	17	12	8	0	1	0	0	0	1	0	3	0	3	0	2	4	0	4	2	4	2	5	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.3685A>G	p.Ile1229Val	p.I1229V	ENST00000265709	31/43	507	354	153	556	556	0	strelka-varscan-mutect	ANK1,missense_variant,p.Ile1188Val,ENST00000289734,NM_000037.3;ANK1,missense_variant,p.Ile1188Val,ENST00000347528,NM_020476.2,NM_020475.2,NM_020477.2;ANK1,missense_variant,p.Ile1229Val,ENST00000265709,NM_001142446.1;ANK1,missense_variant,p.Ile510Val,ENST00000520299,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,non_coding_transcript_exon_variant,,ENST00000524069,;ANK1,upstream_gene_variant,,ENST00000518061,;	C	ENST00000265709	Transcript	missense_variant	3967/6379	3685/5694	1229/1897	I/V	Ata/Gta		1		-1	ANK1	HGNC	HGNC:492	protein_coding	YES	CCDS47849.1	ENSP00000265709	P16157		UPI0000E4453A	NM_001142446.1	tolerated(0.1)		31/43		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	41693172	41693172	T	C	1	0	0	0	0	1	0	0	0	720	1464	51	5		5	ANK1	8	41693172	Missense_Mutation	SNP	T	C3N-00175_TP	2044696	41693172	103445464	677	10827											
CHRNB3	0	.	GRCh38	chr8	42708822	42708822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtattacattctaatgacaCcataaaagtatattttggat	15	16	5	5	0	1	1	0	1	1	0	1	2	1	2	1	1	1	2	1	1	7	9	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.158C>A	p.Thr53Asn	p.T53N	ENST00000289957	2/6	114	93	21	149	149	0	strelka-varscan-mutect	CHRNB3,missense_variant,p.Thr53Asn,ENST00000289957,NM_000749.3;CHRNB3,5_prime_UTR_variant,,ENST00000534391,;RP11-412B14.1,intron_variant,,ENST00000527318,;CHRNB3,downstream_gene_variant,,ENST00000531610,;	A	ENST00000289957	Transcript	missense_variant	286/2294	158/1377	53/458	T/N	aCc/aAc		1		1	CHRNB3	HGNC	HGNC:1963	protein_coding	YES	CCDS6134.1	ENSP00000289957	Q05901		UPI0000125272	NM_000749.3	tolerated(0.09)		2/6		hmmpanther:PTHR18945:SF75,hmmpanther:PTHR18945,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932																	MODERATE	1	SNV	1			1										PASS		rs1335889873	.												A	3	1	39	42708822	42708822	C	A	1	0	0	0	0	1	0	0	0	3152	507	18	2		2	CHRNB3	8	42708822	Missense_Mutation	SNP	C	C3N-00175_TP	1015650	42708822	102429814	678	10828											
SNTG1	0	.	GRCh38	chr8	50658601	50658601	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttttaaaggtgaccaccTgggactggacgagagcagag	12	8	13	8	1	1	3	0	1	1	2	1	6	1	5	2	3	1	1	2	3	2	2			C3N-00175_TP	C3N-00175_NB	T	T																c.976T>A	p.Trp326Arg	p.W326R	ENST00000522124	15/19	130	112	18	120	119	1	strelka-varscan-mutect	SNTG1,missense_variant,p.Trp326Arg,ENST00000522124,NM_018967.3;SNTG1,missense_variant,p.Trp326Arg,ENST00000518864,NM_001287813.1;SNTG1,missense_variant,p.Trp326Arg,ENST00000517473,NM_001287814.1;SNTG1,missense_variant,p.Trp326Arg,ENST00000520825,;SNTG1,missense_variant,p.Trp100Arg,ENST00000524004,;	A	ENST00000522124	Transcript	missense_variant	1637/3504	976/1554	326/517	W/R	Tgg/Agg	COSM129340,COSM129341	1		1	SNTG1	HGNC	HGNC:13740	protein_coding	YES	CCDS6147.1	ENSP00000429842	Q9NSN8	A0A024R7Y0	UPI000004A0DD	NM_018967.3	tolerated(0.4)		15/19		Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF2,SMART_domains:SM00233,Superfamily_domains:SSF50729											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	39	50658601	50658601	T	A	1	0	0	0	0	1	0	0	0	15194	1580	55	4		4	SNTG1	8	50658601	Missense_Mutation	SNP	T	C3N-00175_TP	7949779	50658601	94480035	679	10829											
PXDNL	0	.	GRCh38	chr8	51371878	51371878	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattattactgacctgcaCagcagtcttgccacactcgc	9	11	7	14	1	1	1	0	1	1	0	2	1	1	1	2	0	5	3	2	0	2	3			C3N-00175_TP	C3N-00175_NB	C	C																c.3896G>T	p.Cys1299Phe	p.C1299F	ENST00000356297	19/23	157	128	29	184	184	0	strelka-varscan-mutect	PXDNL,missense_variant,p.Cys1299Phe,ENST00000356297,NM_144651.4;PXDNL,missense_variant,p.Cys373Phe,ENST00000522933,;PXDNL,missense_variant,p.Cys565Phe,ENST00000522628,;	A	ENST00000356297	Transcript	missense_variant	3997/4805	3896/4392	1299/1463	C/F	tGt/tTt	COSM374843,COSM374844	1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4	deleterious(0)		19/23		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	39	51371878	51371878	C	A	1	0	0	0	0	1	0	0	0	13002	492	17	2		2	PXDNL	8	51371878	Missense_Mutation	SNP	C	C3N-00175_TP	713277	51371878	93766758	680	10830											
PXDNL	0	.	GRCh38	chr8	51408536	51408536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagcctcggtaacccctcaGcatcctagtgccagggtccc	7	8	10	16	1	1	0	1	0	0	0	4	0	3	0	6	2	4	3	6	2	3	3	rs367819359		C3N-00175_TP	C3N-00175_NB	G	G																c.3088C>A	p.Leu1030Met	p.L1030M	ENST00000356297	17/23	261	185	76	285	285	0	strelka-varscan-mutect	PXDNL,missense_variant,p.Leu1030Met,ENST00000356297,NM_144651.4;PXDNL,missense_variant,p.Leu149Met,ENST00000522933,;PXDNL,missense_variant,p.Leu296Met,ENST00000522628,;	T	ENST00000356297	Transcript	missense_variant	3189/4805	3088/4392	1030/1463	L/M	Ctg/Atg	rs367819359	1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4	tolerated(0.13)		17/23		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113																	MODERATE	1	SNV	1			1										PASS		rs367819359	.												T	3	4	39	51408536	51408536	G	T	1	0	0	0	0	1	0	0	0	13002	962	34	2		2	PXDNL	8	51408536	Missense_Mutation	SNP	G	C3N-00175_TP	36658	51408536	93730100	681	10831											
NSMAF	0	.	GRCh38	chr8	58589468	58589468	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccttcactgtagagtccCacgatgcagaatatagcctg	12	9	9	11	1	1	2	1	0	0	2	2	4	2	2	3	0	3	2	3	0	5	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2288G>T	p.Trp763Leu	p.W763L	ENST00000427130	26/31	61	46	15	49	49	0	varscan-mutect	NSMAF,missense_variant,p.Trp732Leu,ENST00000038176,NM_003580.3;NSMAF,missense_variant,p.Trp763Leu,ENST00000427130,NM_001144772.1;NSMAF,non_coding_transcript_exon_variant,,ENST00000523177,;NSMAF,non_coding_transcript_exon_variant,,ENST00000517612,;NSMAF,non_coding_transcript_exon_variant,,ENST00000521712,;NSMAF,upstream_gene_variant,,ENST00000521972,;NSMAF,downstream_gene_variant,,ENST00000523106,;NSMAF,downstream_gene_variant,,ENST00000519166,;NSMAF,downstream_gene_variant,,ENST00000524148,;NSMAF,downstream_gene_variant,,ENST00000519174,;AC068522.4,upstream_gene_variant,,ENST00000482895,;	A	ENST00000427130	Transcript	missense_variant	2476/3371	2288/2847	763/948	W/L	tGg/tTg		1		-1	NSMAF	HGNC	HGNC:8017	protein_coding	YES	CCDS47864.1	ENSP00000411012	Q92636		UPI000192950C	NM_001144772.1	deleterious(0.04)		26/31		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF53,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	58589468	58589468	C	A	1	0	0	0	0	1	0	0	0	10734	595	21	2		2	NSMAF	8	58589468	Missense_Mutation	SNP	C	C3N-00175_TP	7180932	58589468	86549168	682	10832											
CLVS1	0	.	GRCh38	chr8	61499492	61499492	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgggaccctgaaacatGaggagaagggagagaatgag	16	4	16	5	0	0	5	0	3	0	2	0	9	0	7	1	3	2	1	1	3	4	0			C3N-00175_TP	C3N-00175_NB	G	G																c.1015G>T	p.Glu339Ter	p.E339*	ENST00000519846	7/7	137	106	31	155	155	0	strelka-varscan-mutect	CLVS1,stop_gained,p.Glu339Ter,ENST00000519846,;CLVS1,stop_gained,p.Glu339Ter,ENST00000325897,NM_173519.2;CLVS1,stop_gained,p.Glu60Ter,ENST00000518592,;CLVS1,incomplete_terminal_codon_variant,p.=,ENST00000520712,;ASPH,downstream_gene_variant,,ENST00000379454,NM_004318.3;AC090094.1,downstream_gene_variant,,ENST00000541428,NM_001164750.1;CLVS1,non_coding_transcript_exon_variant,,ENST00000518858,;	T	ENST00000519846	Transcript	stop_gained	1487/3622	1015/1065	339/354	E/*	Gag/Tag	COSM1552924	1		1	CLVS1	HGNC	HGNC:23139	protein_coding	YES	CCDS6176.1	ENSP00000428402	Q8IUQ0		UPI000007472D				7/7		hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF72											1						HIGH		SNV	5		1	1										PASS		rs1316816191	.												T	4	4	39	61499492	61499492	G	T	1	0	0	0	0	0	1	0	0	3344	1291	45	2		2	CLVS1	8	61499492	Nonsense_Mutation	SNP	G	C3N-00175_TP	2910024	61499492	83639144	683	10833											
TTPA	0	.	GRCh38	chr8	63066018	63066018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattccgctgagtttctacCtcctgtacaataagctcgga	9	12	7	13	2	1	1	0	1	1	0	4	2	3	2	4	1	3	4	4	1	4	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.438G>C	p.Glu146Asp	p.E146D	ENST00000260116	3/5	292	212	80	278	278	0	strelka-varscan-mutect	TTPA,missense_variant,p.Glu146Asp,ENST00000260116,NM_000370.3;TTPA,intron_variant,,ENST00000521138,;	G	ENST00000260116	Transcript	missense_variant	470/2338	438/837	146/278	E/D	gaG/gaC		1		-1	TTPA	HGNC	HGNC:12404	protein_coding	YES	CCDS6178.1	ENSP00000260116	P49638		UPI00001377AC	NM_000370.3	tolerated(0.17)		3/5		PROSITE_profiles:PS50191,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF52,Gene3D:3.40.525.10,Pfam_domain:PF00650,SMART_domains:SM00516,Superfamily_domains:SSF52087																	MODERATE	1	SNV	1			1										PASS		rs918456240	.												G	3	3	39	63066018	63066018	C	G	1	0	0	0	0	1	0	0	0	17246	680	24	4		4	TTPA	8	63066018	Missense_Mutation	SNP	C	C3N-00175_TP	1566526	63066018	82072618	684	10834											
TTPA	0	.	GRCh38	chr8	63072959	63072959	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaaataagaactttgcTgccagtgggatccctggatc	10	12	10	9	0	1	1	0	0	1	1	3	3	2	3	2	2	3	2	2	2	4	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.334A>T	p.Ser112Cys	p.S112C	ENST00000260116	2/5	247	209	38	252	252	0	strelka-varscan-mutect	TTPA,missense_variant,p.Ser112Cys,ENST00000260116,NM_000370.3;TTPA,intron_variant,,ENST00000521138,;	A	ENST00000260116	Transcript	missense_variant	366/2338	334/837	112/278	S/C	Agc/Tgc		1		-1	TTPA	HGNC	HGNC:12404	protein_coding	YES	CCDS6178.1	ENSP00000260116	P49638		UPI00001377AC	NM_000370.3	tolerated(0.13)		2/5		PROSITE_profiles:PS50191,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF52,Gene3D:3.40.525.10,Pfam_domain:PF00650,SMART_domains:SM00516,Superfamily_domains:SSF52087,Prints_domain:PR00180																	MODERATE	1	SNV	1			1										PASS		rs1322464959	.												A	3	1	39	63072959	63072959	T	A	1	0	0	0	0	1	0	0	0	17246	1580	55	4		4	TTPA	8	63072959	Missense_Mutation	SNP	T	C3N-00175_TP	6941	63072959	82065677	685	10835											
TRIM55	0	.	GRCh38	chr8	66154141	66154141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatcccttgttttaccctaGttggtataaaggccaaaccc	10	12	8	11	0	0	0	0	0	0	0	1	1	1	1	4	3	2	3	4	3	6	7	rs766018012		C3N-00175_TP	C3N-00175_NB	G	G																c.1331G>T	p.Ser444Ile	p.S444I	ENST00000315962	9/10	279	197	82	334	334	0	strelka-varscan-mutect	TRIM55,missense_variant,p.Ser444Ile,ENST00000315962,NM_184085.1;TRIM55,missense_variant,p.Ser444Ile,ENST00000276573,NM_033058.2;TRIM55,intron_variant,,ENST00000353317,NM_184086.1;TRIM55,intron_variant,,ENST00000350034,NM_184087.1;TRIM55,intron_variant,,ENST00000517647,;	T	ENST00000315962	Transcript	missense_variant	1704/2914	1331/1647	444/548	S/I	aGt/aTt	rs766018012	1		1	TRIM55	HGNC	HGNC:14215	protein_coding	YES	CCDS6184.1	ENSP00000323913	Q9BYV6		UPI00001CE3B7	NM_184085.1	deleterious_low_confidence(0)		9/10		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF318																	MODERATE	1	SNV	1			1										PASS		rs766018012	.												T	3	4	39	66154141	66154141	G	T	1	0	0	0	0	1	0	0	0	17022	1029	36	2		2	TRIM55	8	66154141	Missense_Mutation	SNP	G	C3N-00175_TP	3081182	66154141	78984495	686	10836											
SULF1	0	.	GRCh38	chr8	69603265	69603265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggctcgacacacctcctGatgtggacggcaagtctgtc	7	9	12	13	2	1	1	0	1	1	0	4	3	2	2	2	3	0	2	2	3	1	0			C3N-00175_TP	C3N-00175_NB	G	G																c.1135G>A	p.Asp379Asn	p.D379N	ENST00000260128	11/23	209	183	26	229	229	0	strelka-varscan-mutect	SULF1,missense_variant,p.Asp379Asn,ENST00000260128,NM_015170.2;SULF1,missense_variant,p.Asp379Asn,ENST00000458141,NM_001128204.1;SULF1,missense_variant,p.Asp379Asn,ENST00000402687,NM_001128205.1;SULF1,missense_variant,p.Asp379Asn,ENST00000419716,NM_001128206.1;SULF1,missense_variant,p.Asp163Asn,ENST00000616868,;SULF1,non_coding_transcript_exon_variant,,ENST00000521946,;	A	ENST00000260128	Transcript	missense_variant	1852/5710	1135/2616	379/871	D/N	Gat/Aat	COSM3779331	1		1	SULF1	HGNC	HGNC:20391	protein_coding	YES	CCDS6204.1	ENSP00000260128	Q8IWU6	A0A024R809	UPI000003FD82	NM_015170.2	deleterious(0.01)		11/23		hmmpanther:PTHR10342:SF210,hmmpanther:PTHR10342,PIRSF_domain:PIRSF036665,Gene3D:3.40.720.10,Superfamily_domains:SSF53649											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	39	69603265	69603265	G	A	1	0	0	0	0	1	0	0	0	15758	1290	45	3		3	SULF1	8	69603265	Missense_Mutation	SNP	G	C3N-00175_TP	3449124	69603265	75535371	687	10837											
MSC	0	.	GRCh38	chr8	71843980	71843980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcttgcagccttccgCgctgccggctgtgcccagag	3	10	11	17	3	1	1	0	0	1	1	3	1	3	1	5	1	4	3	5	1	0	3			C3N-00175_TP	C3N-00175_NB	C	C																c.199G>A	p.Ala67Thr	p.A67T	ENST00000325509	1/2	92	76	16	138	138	0	strelka-varscan-mutect	MSC,missense_variant,p.Ala67Thr,ENST00000325509,NM_005098.3;MSC-AS1,intron_variant,,ENST00000522519,;MSC-AS1,intron_variant,,ENST00000524152,;MSC-AS1,intron_variant,,ENST00000521467,;MSC-AS1,upstream_gene_variant,,ENST00000457356,;MSC-AS1,upstream_gene_variant,,ENST00000518916,;MSC-AS1,upstream_gene_variant,,ENST00000519751,;MSC,upstream_gene_variant,,ENST00000518440,;MSC,upstream_gene_variant,,ENST00000521739,;	T	ENST00000325509	Transcript	missense_variant	489/2023	199/621	67/206	A/T	Gcg/Acg	COSM5093077	1		-1	MSC	HGNC	HGNC:7321	protein_coding	YES	CCDS43746.1	ENSP00000321445	O60682		UPI000012FA29	NM_005098.3	tolerated(0.58)		1/2		hmmpanther:PTHR23349:SF62,hmmpanther:PTHR23349											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	39	71843980	71843980	C	T	1	0	0	0	0	1	0	0	0	9851	768	27	1		1	MSC	8	71843980	Missense_Mutation	SNP	C	C3N-00175_TP	2240715	71843980	73294656	688	10838											
TRPA1	0	.	GRCh38	chr8	72055535	72055535	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattccatgaaggtcacctTcattcagaagcctcgtatca	11	12	6	12	1	5	2	5	1	0	1	7	2	6	2	3	1	1	1	3	1	3	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1430A>G	p.Glu477Gly	p.E477G	ENST00000262209	12/27	307	213	94	264	264	0	strelka-varscan-mutect	TRPA1,missense_variant,p.Glu477Gly,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Glu329Gly,ENST00000523582,;MSC-AS1,non_coding_transcript_exon_variant,,ENST00000457356,;MSC-AS1,non_coding_transcript_exon_variant,,ENST00000519068,;MSC-AS1,intron_variant,,ENST00000518916,;MSC-AS1,downstream_gene_variant,,ENST00000522519,;MSC-AS1,downstream_gene_variant,,ENST00000512290,;MSC-AS1,downstream_gene_variant,,ENST00000519751,;MSC-AS1,downstream_gene_variant,,ENST00000524152,;TRPA1,non_coding_transcript_exon_variant,,ENST00000520788,;	C	ENST00000262209	Transcript	missense_variant	1638/5223	1430/3360	477/1119	E/G	gAa/gGa		1		-1	TRPA1	HGNC	HGNC:497	protein_coding	YES	CCDS34908.1	ENSP00000262209	O75762		UPI000021081A	NM_007332.2	deleterious(0)		12/27		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF6,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	72055535	72055535	T	C	1	0	0	0	0	1	0	0	0	17082	1783	62	5		5	TRPA1	8	72055535	Missense_Mutation	SNP	T	C3N-00175_TP	211555	72055535	73083101	689	10839											
SBSPON	0	.	GRCh38	chr8	73081206	73081206	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccattcccccacgaagcaCgggcgagctgaaaaacagca	13	4	9	15	3	0	1	0	1	0	0	2	3	2	1	3	1	4	3	3	1	3	1	rs754823025		C3N-00175_TP	C3N-00175_NB	C	C																c.222G>T	p.=	p.P74P	ENST00000297354	2/5	43	32	11	53	53	0	strelka-varscan-mutect	SBSPON,synonymous_variant,p.=,ENST00000297354,NM_153225.3;RP11-956J14.1,downstream_gene_variant,,ENST00000442274,;SBSPON,non_coding_transcript_exon_variant,,ENST00000519697,;	A	ENST00000297354	Transcript	synonymous_variant	427/3801	222/795	74/264	P	ccG/ccT	rs754823025	1		-1	SBSPON	HGNC	HGNC:30362	protein_coding	YES	CCDS43747.2	ENSP00000297354	Q8IVN8		UPI0000D47CF3	NM_153225.3			2/5		Superfamily_domains:0049461,Gene3D:2.20.100.10,PROSITE_profiles:PS50092,PROSITE_profiles:PS50958,hmmpanther:PTHR20920,hmmpanther:PTHR20920:SF2,Superfamily_domains:SSF82895																	LOW	1	SNV	1			1										PASS		rs754823025	.												A	2	1	39	73081206	73081206	C	A	1	0	0	0	0	0	0	0	1	14130	523	19	1		1	SBSPON	8	73081206	Silent	SNP	C	C3N-00175_TP	1025671	73081206	72057430	690	10840											
SBSPON	0	.	GRCh38	chr8	73092993	73092993	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccgggacagcagcgcccGgcctcggcgcagccggcctg	4	2	17	18	7	0	0	0	0	0	0	1	1	0	1	5	5	3	2	5	5	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.75C>A	p.=	p.A25A	ENST00000297354	1/5	125	113	12	148	148	0	strelka-varscan-mutect	SBSPON,synonymous_variant,p.=,ENST00000297354,NM_153225.3;SBSPON,intron_variant,,ENST00000519697,;	T	ENST00000297354	Transcript	synonymous_variant	280/3801	75/795	25/264	A	gcC/gcA		1		-1	SBSPON	HGNC	HGNC:30362	protein_coding	YES	CCDS43747.2	ENSP00000297354	Q8IVN8		UPI0000D47CF3	NM_153225.3			1/5		PROSITE_profiles:PS50958,hmmpanther:PTHR20920,hmmpanther:PTHR20920:SF2																	LOW	1	SNV	1			1										PASS		rs1046662286	.												T	2	4	39	73092993	73092993	G	T	1	0	0	0	0	0	0	0	1	14130	1103	39	1		1	SBSPON	8	73092993	Silent	SNP	G	C3N-00175_TP	11787	73092993	72045643	691	10841											
ZFHX4	0	.	GRCh38	chr8	76705215	76705215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatggtgactctttgcCggctggctttgccttcttaa	7	15	10	9	1	2	2	0	2	2	0	2	2	2	2	2	3	2	2	2	3	3	4	rs745707914		C3N-00175_TP	C3N-00175_NB	C	C																c.1127C>G	p.Pro376Arg	p.P376R	ENST00000521891	2/11	206	183	23	232	232	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Pro376Arg,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Pro376Arg,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	G	ENST00000521891	Transcript	missense_variant	1575/14019	1127/10851	376/3616	P/R	cCg/cGg	rs745707914,COSM3716038,COSM3716039	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	tolerated_low_confidence(0.49)		2/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs745707914	.												G	3	3	39	76705215	76705215	C	G	1	0	0	0	0	1	0	0	0	18213	652	23	4		4	ZFHX4	8	76705215	Missense_Mutation	SNP	C	C3N-00175_TP	3612222	76705215	68433421	692	10842											
ZFHX4	0	.	GRCh38	chr8	76707790	76707790	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attggagatatctaccagtgCaagctctgcaactacaacac	14	9	7	11	0	2	1	0	0	2	1	2	2	2	1	1	1	7	3	1	1	6	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2835C>T	p.=	p.C945C	ENST00000521891	3/11	199	172	27	309	309	0	strelka-varscan-mutect	ZFHX4,synonymous_variant,p.=,ENST00000521891,NM_024721.4;ZFHX4,synonymous_variant,p.=,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	T	ENST00000521891	Transcript	synonymous_variant	3283/14019	2835/10851	945/3616	C	tgC/tgT		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4			3/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00355,SMART_domains:SM00451																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	39	76707790	76707790	C	T	1	0	0	0	0	0	0	0	1	18213	718	25	3		3	ZFHX4	8	76707790	Silent	SNP	C	C3N-00175_TP	2575	76707790	68430846	693	10843											
RALYL	0	.	GRCh38	chr8	84804791	84804791	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttgaatcaaaggaacctttCctgtctgttgggtaagtata	11	14	9	7	0	2	1	1	1	1	0	3	2	3	2	2	2	1	3	2	2	6	6			C3N-00175_TP	C3N-00175_NB	C	C																c.393C>G	p.Phe131Leu	p.F131L	ENST00000517638	4/9	19	12	7	34	34	0	strelka-varscan-mutect	RALYL,missense_variant,p.Phe118Leu,ENST00000521268,NM_173848.5;RALYL,missense_variant,p.Phe118Leu,ENST00000522455,NM_001100392.1;RALYL,missense_variant,p.Phe131Leu,ENST00000517638,NM_001100391.1;RALYL,missense_variant,p.Phe118Leu,ENST00000521695,NM_001100393.1;RALYL,missense_variant,p.Phe45Leu,ENST00000523850,NM_001287244.1;RALYL,missense_variant,p.Phe45Leu,ENST00000521376,;RALYL,intron_variant,,ENST00000518566,NM_001287243.1;	G	ENST00000517638	Transcript	missense_variant	517/1972	393/915	131/304	F/L	ttC/ttG	COSM4492217,COSM4492218	1		1	RALYL	HGNC	HGNC:27036	protein_coding	YES	CCDS55252.1	ENSP00000430128	Q86SE5		UPI00002108E6	NM_001100391.1	tolerated(0.73)		4/9		hmmpanther:PTHR13968:SF21,hmmpanther:PTHR13968,PIRSF_domain:PIRSF037992											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	39	84804791	84804791	C	G	1	0	0	0	0	1	0	0	0	13179	854	30	4		4	RALYL	8	84804791	Missense_Mutation	SNP	C	C3N-00175_TP	8097001	84804791	60333845	694	10844											
ATP6V0D2	0	.	GRCh38	chr8	86151509	86151509	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaggtggcagtgggggaaAgacattggaggacgtgtttt	9	11	18	3	1	0	1	0	0	0	1	0	4	0	4	0	6	0	3	0	6	2	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.860A>T	p.Lys287Met	p.K287M	ENST00000285393	7/8	250	202	48	180	180	0	strelka-varscan-mutect	ATP6V0D2,missense_variant,p.Lys287Met,ENST00000285393,NM_152565.1;CTD-3118D11.2,intron_variant,,ENST00000522679,;CTD-3118D11.2,downstream_gene_variant,,ENST00000524253,;	T	ENST00000285393	Transcript	missense_variant	1002/2446	860/1053	287/350	K/M	aAg/aTg		1		1	ATP6V0D2	HGNC	HGNC:18266	protein_coding	YES	CCDS6241.1	ENSP00000285393	Q8N8Y2	A0A024R991	UPI0000051F69	NM_152565.1	deleterious(0.02)		7/8		Superfamily_domains:0044678,Pfam_domain:PF01992,PIRSF_domain:PIRSF018497,hmmpanther:PTHR11028,hmmpanther:PTHR11028:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	86151509	86151509	A	T	1	0	0	0	0	1	0	0	0	1327	72	3	4		4	ATP6V0D2	8	86151509	Missense_Mutation	SNP	A	C3N-00175_TP	1346718	86151509	58987127	695	10845											
SLC7A13	0	.	GRCh38	chr8	86217636	86217636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacaagtagtagcacagctGtaaatggagaagagtgacta	16	8	12	5	0	0	4	0	2	0	2	0	5	0	4	0	1	2	5	0	1	7	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1013C>A	p.Thr338Lys	p.T338K	ENST00000297524	3/4	197	164	33	162	162	0	strelka-varscan-mutect	SLC7A13,missense_variant,p.Thr338Lys,ENST00000297524,NM_138817.2;SLC7A13,missense_variant,p.Thr329Lys,ENST00000419776,;SLC7A13,non_coding_transcript_exon_variant,,ENST00000520624,;	T	ENST00000297524	Transcript	missense_variant	1117/1878	1013/1413	338/470	T/K	aCa/aAa		1		-1	SLC7A13	HGNC	HGNC:23092	protein_coding	YES	CCDS34917.1	ENSP00000297524	Q8TCU3		UPI000006DF39	NM_138817.2	deleterious(0.04)		3/4		Transmembrane_helices:TMhelix,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF238,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	86217636	86217636	G	T	1	0	0	0	0	1	0	0	0	14978	1377	48	2		2	SLC7A13	8	86217636	Missense_Mutation	SNP	G	C3N-00175_TP	66127	86217636	58921000	696	10846											
CPNE3	0	.	GRCh38	chr8	86546647	86546647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaaagaaaaaaagctacaAgaattcaggtgttatcagtg	19	8	9	5	0	2	2	2	0	0	2	2	2	2	2	0	1	2	3	0	1	9	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.785A>G	p.Lys262Arg	p.K262R	ENST00000517490	10/17	163	95	68	150	150	0	strelka-varscan-mutect	CPNE3,missense_variant,p.Lys262Arg,ENST00000517490,NM_003909.4;CPNE3,missense_variant,p.Lys151Arg,ENST00000517391,;CPNE3,downstream_gene_variant,,ENST00000621783,;CPNE3,non_coding_transcript_exon_variant,,ENST00000517354,;CPNE3,upstream_gene_variant,,ENST00000614678,;CPNE3,downstream_gene_variant,,ENST00000517862,;CPNE3,upstream_gene_variant,,ENST00000523588,;	G	ENST00000517490	Transcript	missense_variant	948/4865	785/1614	262/537	K/R	aAg/aGg		1		1	CPNE3	HGNC	HGNC:2316	protein_coding	YES	CCDS6243.1	ENSP00000477590	O75131	A0A024R994	UPI0000127C13	NM_003909.4	deleterious(0.03)		10/17		Low_complexity_(Seg):seg,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	86546647	86546647	A	G	1	0	0	0	0	1	0	0	0	3608	72	3	5		5	CPNE3	8	86546647	Missense_Mutation	SNP	A	C3N-00175_TP	329011	86546647	58591989	697	10847											
DCAF4L2	0	.	GRCh38	chr8	87873567	87873567	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgggaatccaagtgattCagtgaggcccagcacataga	13	7	13	8	0	1	3	1	2	0	1	2	4	2	4	2	3	1	1	2	3	3	2			C3N-00175_TP	C3N-00175_NB	C	C																c.405G>C	p.=	p.L135L	ENST00000319675	1/1	387	219	168	326	326	0	strelka-varscan-mutect	DCAF4L2,synonymous_variant,p.=,ENST00000319675,NM_152418.3;CTB-118P15.3,downstream_gene_variant,,ENST00000613582,;	G	ENST00000319675	Transcript	synonymous_variant	502/3326	405/1188	135/395	L	ctG/ctC	COSM5337802	1		-1	DCAF4L2	HGNC	HGNC:26657	protein_coding	YES	CCDS6245.1	ENSP00000316496	Q8NA75		UPI0000072860	NM_152418.3			1/1		Gene3D:2.130.10.10,Superfamily_domains:SSF50978											1						LOW	1	SNV			1	1										PASS		.	.												G	2	3	39	87873567	87873567	C	G	1	0	0	0	0	0	0	0	1	4073	813	29	4		4	DCAF4L2	8	87873567	Silent	SNP	C	C3N-00175_TP	1326920	87873567	57265069	698	10848											
MMP16	0	.	GRCh38	chr8	88167894	88167894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaatgtcagaggagttaCattctgccacacatcaaagg	14	10	8	9	0	4	1	3	0	1	1	4	2	4	2	1	2	2	1	1	2	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.484G>T	p.Val162Leu	p.V162L	ENST00000286614	4/10	237	204	33	179	179	0	strelka-varscan-mutect	MMP16,missense_variant,p.Val162Leu,ENST00000286614,NM_005941.4;MMP16,downstream_gene_variant,,ENST00000522726,;MMP16,non_coding_transcript_exon_variant,,ENST00000544227,;	A	ENST00000286614	Transcript	missense_variant	766/11558	484/1824	162/607	V/L	Gta/Tta		1		-1	MMP16	HGNC	HGNC:7162	protein_coding	YES	CCDS6246.1	ENSP00000286614	P51512		UPI000003DC73	NM_005941.4	deleterious(0.01)		4/10		hmmpanther:PTHR10201:SF26,hmmpanther:PTHR10201,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,Pfam_domain:PF00413,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138																	MODERATE	1	SNV	1			1										PASS		rs1260245087	.												A	3	1	39	88167894	88167894	C	A	1	0	0	0	0	1	0	0	0	9618	478	17	2		2	MMP16	8	88167894	Missense_Mutation	SNP	C	C3N-00175_TP	294327	88167894	56970742	699	10849											
NECAB1	0	.	GRCh38	chr8	90791970	90791970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacctgtccaagggcatGtcgatcttcctcgacgtaag	8	10	10	13	3	1	0	0	0	1	0	5	2	3	0	3	1	1	3	3	1	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.84G>T	p.Met28Ile	p.M28I	ENST00000417640	1/13	339	318	21	292	292	0	strelka-varscan-mutect	NECAB1,missense_variant,p.Met28Ile,ENST00000417640,NM_022351.4;TMEM64,upstream_gene_variant,,ENST00000519519,;TMEM64,upstream_gene_variant,,ENST00000521852,;NECAB1,non_coding_transcript_exon_variant,,ENST00000521954,;TMEM64,upstream_gene_variant,,ENST00000521211,;NECAB1,non_coding_transcript_exon_variant,,ENST00000523962,;NECAB1,non_coding_transcript_exon_variant,,ENST00000522729,;	T	ENST00000417640	Transcript	missense_variant	421/5289	84/1056	28/351	M/I	atG/atT		1		1	NECAB1	HGNC	HGNC:20983	protein_coding	YES	CCDS47889.1	ENSP00000387380	Q8N987		UPI0000070EEA	NM_022351.4	tolerated(0.36)		1/13		PROSITE_profiles:PS50222,hmmpanther:PTHR12178,hmmpanther:PTHR12178:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	90791970	90791970	G	T	1	0	0	0	0	1	0	0	0	10328	1377	48	2		2	NECAB1	8	90791970	Missense_Mutation	SNP	G	C3N-00175_TP	2624076	90791970	54346666	700	10850											
SLC26A7	0	.	GRCh38	chr8	91363527	91363527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaatttaaagtgaagacaGaaatggacagtgtaagttta	17	11	11	2	0	0	3	0	1	0	2	0	5	0	5	0	2	0	2	0	2	7	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1477G>A	p.Glu493Lys	p.E493K	ENST00000309536	13/19	30	22	8	58	58	0	strelka-varscan-mutect	SLC26A7,missense_variant,p.Glu493Lys,ENST00000276609,NM_052832.3;SLC26A7,missense_variant,p.Glu493Lys,ENST00000617233,;SLC26A7,missense_variant,p.Glu192Lys,ENST00000617078,NM_001282357.1;SLC26A7,missense_variant,p.Glu493Lys,ENST00000523719,NM_001282356.1;SLC26A7,missense_variant,p.Glu493Lys,ENST00000309536,NM_134266.1;SLC26A7,non_coding_transcript_exon_variant,,ENST00000520249,;SLC26A7,non_coding_transcript_exon_variant,,ENST00000517930,;SLC26A7,3_prime_UTR_variant,,ENST00000522181,;	A	ENST00000309536	Transcript	missense_variant	1697/2656	1477/1992	493/663	E/K	Gaa/Aaa		1		1	SLC26A7	HGNC	HGNC:14467	protein_coding	YES	CCDS6255.1	ENSP00000309504	Q8TE54		UPI0000046B1C	NM_134266.1	tolerated(0.34)		13/19		PROSITE_profiles:PS50801,hmmpanther:PTHR11814:SF75,hmmpanther:PTHR11814																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	91363527	91363527	G	A	1	0	0	0	0	1	0	0	0	14792	943	33	3		3	SLC26A7	8	91363527	Missense_Mutation	SNP	G	C3N-00175_TP	571557	91363527	53775109	701	10851											
RAD54B	0	.	GRCh38	chr8	94380296	94380296	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatcaacaatctgctgcCtttgagagattggtgtttgt	9	14	10	8	0	2	2	1	1	1	1	2	3	2	2	2	1	4	2	2	1	2	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2096G>T	p.Arg699Met	p.R699M	ENST00000336148	12/15	337	217	120	293	293	0	strelka-varscan-mutect	RAD54B,missense_variant,p.Arg699Met,ENST00000336148,NM_012415.3;RAD54B,missense_variant,p.Arg515Met,ENST00000611249,NM_001205263.1;FSBP,3_prime_UTR_variant,,ENST00000517506,;RAD54B,non_coding_transcript_exon_variant,,ENST00000518358,;	A	ENST00000336148	Transcript	missense_variant	2221/3068	2096/2733	699/910	R/M	aGg/aTg		1		-1	RAD54B	HGNC	HGNC:17228	protein_coding	YES	CCDS6262.1	ENSP00000336606	Q9Y620		UPI0000070088	NM_012415.3	deleterious(0)		12/15		Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF688,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	94380296	94380296	C	A	1	0	0	0	0	1	0	0	0	13153	681	24	2		2	RAD54B	8	94380296	Missense_Mutation	SNP	C	C3N-00175_TP	3016769	94380296	50758340	702	10852											
PLEKHF2	0	.	GRCh38	chr8	95154222	95154222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagtttttcttgtttaatGatattcttgtatatggcaat	9	20	8	4	0	2	1	0	1	2	0	2	1	2	1	0	2	0	5	0	2	5	10	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.178G>A	p.Asp60Asn	p.D60N	ENST00000315367	2/2	164	149	15	126	125	1	strelka-varscan-mutect	PLEKHF2,missense_variant,p.Asp60Asn,ENST00000315367,NM_024613.3;PLEKHF2,missense_variant,p.Asp60Asn,ENST00000519516,;	A	ENST00000315367	Transcript	missense_variant	419/2881	178/750	60/249	D/N	Gat/Aat		1		1	PLEKHF2	HGNC	HGNC:20757	protein_coding	YES	CCDS6267.1	ENSP00000322373	Q9H8W4		UPI0000035DB0	NM_024613.3	deleterious(0)		2/2		PROSITE_profiles:PS50003,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	95154222	95154222	G	A	1	0	0	0	0	1	0	0	0	12160	1290	45	3		3	PLEKHF2	8	95154222	Missense_Mutation	SNP	G	C3N-00175_TP	773926	95154222	49984414	703	10853											
CPQ	0	.	GRCh38	chr8	96785267	96785267	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagaatcagctgtgatgctgGagccaagaattcataagata	16	9	10	6	0	2	4	2	1	0	3	2	5	2	5	1	1	3	2	1	1	6	3	rs760248141		C3N-00175_TP	C3N-00175_NB	G	G																c.370G>T	p.Glu124Ter	p.E124*	ENST00000220763	2/8	112	92	20	90	90	0	varscan-mutect	CPQ,stop_gained,p.Glu124Ter,ENST00000220763,NM_016134.3;CPQ,stop_gained,p.Glu124Ter,ENST00000521142,;CPQ,stop_gained,p.Glu124Ter,ENST00000517742,;CPQ,stop_gained,p.Glu124Ter,ENST00000519900,;CPQ,stop_gained,p.Glu124Ter,ENST00000519484,;CPQ,non_coding_transcript_exon_variant,,ENST00000525310,;	T	ENST00000220763	Transcript	stop_gained	580/1947	370/1419	124/472	E/*	Gag/Tag	rs760248141	1		1	CPQ	HGNC	HGNC:16910	protein_coding	YES	CCDS6273.1	ENSP00000220763	Q9Y646	A0A024R9B8	UPI00000706B8	NM_016134.3			2/8		hmmpanther:PTHR12053,hmmpanther:PTHR12053:SF3																	HIGH	1	SNV	1			1										PASS		rs760248141	.												T	4	4	39	96785267	96785267	G	T	1	0	0	0	0	0	1	0	0	3618	1175	41	2		2	CPQ	8	96785267	Nonsense_Mutation	SNP	G	C3N-00175_TP	1631045	96785267	48353369	704	10854											
TSPYL5	0	.	GRCh38	chr8	97277635	97277635	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcctcctccccgagccggagGagctgcgcggacgcagcggc	5	3	16	17	6	0	0	0	0	0	0	2	4	2	3	5	4	4	2	5	4	0	0	rs746850171		C3N-00175_TP	C3N-00175_NB	G	G																c.210C>T	p.=	p.L70L	ENST00000322128	1/1	57	50	7	37	37	0	strelka-varscan-mutect	TSPYL5,synonymous_variant,p.=,ENST00000322128,NM_033512.2;	A	ENST00000322128	Transcript	synonymous_variant	330/4491	210/1254	70/417	L	ctC/ctT	rs746850171,COSM4476974	1		-1	TSPYL5	HGNC	HGNC:29367	protein_coding	YES	CCDS34927.1	ENSP00000322802	Q86VY4		UPI0000210364	NM_033512.2			1/1													0,1						LOW	1	SNV			0,1	1										PASS		rs746850171	.												A	2	1	39	97277635	97277635	G	A	1	0	0	0	0	0	0	0	1	17169	1161	41	3		3	TSPYL5	8	97277635	Silent	SNP	G	C3N-00175_TP	492368	97277635	47861001	705	10855											
MATN2	0	.	GRCh38	chr8	98018067	98018067	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgatgactcatacacgtgCgagtgcttggagggattccg	9	10	14	8	3	1	2	1	2	0	0	2	5	2	4	1	2	3	1	1	2	1	3	rs374356192		C3N-00175_TP	C3N-00175_NB	C	C																c.1770C>A	p.Cys590Ter	p.C590*	ENST00000254898	12/19	274	234	40	183	182	1	strelka-varscan-mutect	MATN2,stop_gained,p.Cys590Ter,ENST00000254898,NM_002380.3;MATN2,stop_gained,p.Cys590Ter,ENST00000521689,NM_030583.2;MATN2,stop_gained,p.Cys590Ter,ENST00000520016,;MATN2,stop_gained,p.Cys549Ter,ENST00000524308,;MATN2,stop_gained,p.Cys306Ter,ENST00000522025,;MATN2,stop_gained,p.Cys373Ter,ENST00000518154,;MATN2,stop_gained,p.Cys65Ter,ENST00000517321,;MATN2,stop_gained,p.Cys107Ter,ENST00000521952,;MATN2,upstream_gene_variant,,ENST00000518370,;	A	ENST00000254898	Transcript	stop_gained	2001/4106	1770/2871	590/956	C/*	tgC/tgA	rs374356192	1		1	MATN2	HGNC	HGNC:6908	protein_coding	YES	CCDS55264.1	ENSP00000254898	O00339	A0A140VKH7	UPI000021037B	NM_002380.3			12/19		Gene3D:2.10.25.10,Pfam_domain:PF14670,PROSITE_patterns:PS00010,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR11132,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	HIGH	1	SNV	1			1										PASS		rs374356192	.												A	4	1	39	98018067	98018067	C	A	1	0	0	0	0	0	1	0	0	9260	776	27	1		1	MATN2	8	98018067	Nonsense_Mutation	SNP	C	C3N-00175_TP	740432	98018067	47120569	706	10856											
RGS22	0	.	GRCh38	chr8	100072144	100072144	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atattgatgggactatagtaCctgtattcaaagtaacaatc	15	13	7	6	0	1	1	1	1	0	0	2	2	1	2	1	1	2	3	1	1	8	8	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.425+1G>T		p.X142_splice	ENST00000360863		93	75	18	103	103	0	strelka-varscan-mutect	RGS22,splice_donor_variant,,ENST00000360863,NM_015668.4;RGS22,splice_donor_variant,,ENST00000617334,;RGS22,splice_donor_variant,,ENST00000523437,NM_001286692.1;RGS22,splice_donor_variant,,ENST00000519092,;RGS22,splice_donor_variant,,ENST00000519408,;RGS22,splice_donor_variant,,ENST00000520117,;RGS22,intron_variant,,ENST00000523287,NM_001286693.1;RGS22,intron_variant,,ENST00000517828,;RGS22,splice_donor_variant,,ENST00000519725,;RGS22,splice_donor_variant,,ENST00000520923,;	A	ENST00000360863	Transcript	splice_donor_variant	-/4296	425/3795	142/1264				1		-1	RGS22	HGNC	HGNC:24499	protein_coding	YES	CCDS43758.1	ENSP00000354109	Q8NE09		UPI0000E5AF25	NM_015668.4				5/27																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	39	100072144	100072144	C	A	1	0	0	0	0	0	0	1	0	13476	521	18	2		2	RGS22	8	100072144	Splice_Site	SNP	C	C3N-00175_TP	2054077	100072144	45066492	707	10857											
SPAG1	0	.	GRCh38	chr8	100220323	100220323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgaaacctcttctgaggcGggcgatggcctatgaaactc	10	10	11	10	2	2	3	0	3	2	0	3	4	2	3	2	3	2	0	2	3	4	3	rs150325048		C3N-00175_TP	C3N-00175_NB	G	G																c.1580G>T	p.Arg527Leu	p.R527L	ENST00000388798	13/19	219	122	97	157	157	0	strelka-varscan-mutect	SPAG1,missense_variant,p.Arg527Leu,ENST00000388798,NM_003114.4;SPAG1,missense_variant,p.Arg527Leu,ENST00000251809,NM_172218.2;SPAG1,intron_variant,,ENST00000523302,;	T	ENST00000388798	Transcript	missense_variant	1771/3852	1580/2781	527/926	R/L	cGg/cTg	rs150325048,COSM3884161	1		1	SPAG1	HGNC	HGNC:11212	protein_coding	YES	CCDS34930.1	ENSP00000373450	Q07617		UPI000016783D	NM_003114.4	deleterious(0)		13/19		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR22904:SF310,hmmpanther:PTHR22904,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs150325048	.												T	3	4	39	100220323	100220323	G	T	1	0	0	0	0	1	0	0	0	15306	1116	39	1		1	SPAG1	8	100220323	Missense_Mutation	SNP	G	C3N-00175_TP	148179	100220323	44918313	708	10858											
DPYS	0	.	GRCh38	chr8	104451262	104451262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctggtcactccaccacGtcactgccacatgaaggctg	9	9	8	15	1	2	1	2	1	0	0	3	1	3	1	4	2	2	1	4	2	2	1	rs755791096		C3N-00175_TP	C3N-00175_NB	G	G																c.407C>T	p.Thr136Met	p.T136M	ENST00000351513	2/10	499	473	26	376	374	2	strelka-varscan-mutect	DPYS,missense_variant,p.Thr136Met,ENST00000351513,NM_001385.2;DPYS,intron_variant,,ENST00000521573,;	A	ENST00000351513	Transcript	missense_variant	540/2127	407/1560	136/519	T/M	aCg/aTg	rs755791096,COSM3270909	1		-1	DPYS	HGNC	HGNC:3013	protein_coding	YES	CCDS6302.1	ENSP00000276651	Q14117		UPI000012986F	NM_001385.2	deleterious(0)		2/10		hmmpanther:PTHR11647:SF50,hmmpanther:PTHR11647,TIGRFAM_domain:TIGR02033,Pfam_domain:PF01979,Gene3D:3.20.20.140,Superfamily_domains:SSF51556											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs755791096	.												A	3	1	39	104451262	104451262	G	A	1	0	0	0	0	1	0	0	0	4561	1145	40	1		1	DPYS	8	104451262	Missense_Mutation	SNP	G	C3N-00175_TP	4230939	104451262	40687374	709	10859											
TRHR	0	.	GRCh38	chr8	109087777	109087777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acataacagacagtatctacGgttcctgggtctatggctat	11	12	9	9	1	2	1	0	0	2	1	3	1	3	1	1	3	2	3	1	3	5	6	rs368688599		C3N-00175_TP	C3N-00175_NB	G	G																c.265G>A	p.Gly89Ser	p.G89S	ENST00000518632	2/3	490	298	192	321	321	0	strelka-varscan-mutect	TRHR,missense_variant,p.Gly89Ser,ENST00000518632,;TRHR,missense_variant,p.Gly89Ser,ENST00000311762,NM_003301.5;	A	ENST00000518632	Transcript	missense_variant	616/1660	265/1197	89/398	G/S	Ggt/Agt	rs368688599,COSM247969	1		1	TRHR	HGNC	HGNC:12299	protein_coding	YES	CCDS6311.1	ENSP00000430711	P34981		UPI0000050437		tolerated(0.11)		2/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00751,Prints_domain:PR01846,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF115,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs368688599	.												A	3	1	39	109087777	109087777	G	A	1	0	0	0	0	1	0	0	0	16969	1116	39	1		1	TRHR	8	109087777	Missense_Mutation	SNP	G	C3N-00175_TP	4636515	109087777	36050859	710	10860											
TRHR	0	.	GRCh38	chr8	109119146	109119146	+	Frame_Shift_Del	DEL	C	C	-																															tcatttctctccagtcctttCcaagaaaattggtttttgct																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.889delC	p.Gln297LysfsTer22	p.Q297Kfs*22	ENST00000518632	3/3	358	292	66	321	321	0	sindel-varindel-pindel	TRHR,frameshift_variant,p.Gln297LysfsTer22,ENST00000518632,;TRHR,frameshift_variant,p.Gln297LysfsTer22,ENST00000311762,NM_003301.5;	-	ENST00000518632	Transcript	frameshift_variant	1239/1660	888/1197	296/398	F/X	ttC/tt		1		1	TRHR	HGNC	HGNC:12299	protein_coding	YES	CCDS6311.1	ENSP00000430711	P34981		UPI0000050437				3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00751,Prints_domain:PR01846,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF115,SMART_domains:SM01381,Superfamily_domains:SSF81321																	HIGH	1	deletion	5	1		1										PASS		.	.												-	7	5	39	109119146	109119146	C	-	1	0	1	0	1	0	0	0	0	16969	854	30	0		0	TRHR	8	109119146	Frame_Shift_Del	DEL	C	C3N-00175_TP	31369	109119146	36019490	711	10861											
CSMD3	0	.	GRCh38	chr8	112255378	112255378	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggtatataaagcttttGccttctctttttccttgggc	6	18	8	9	0	1	0	0	0	1	0	3	1	2	0	2	2	2	2	2	2	4	9	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.9912C>A	p.=	p.G3304G	ENST00000297405	62/71	436	268	168	346	345	1	strelka-varscan-mutect	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000455883,NM_052900.2;CSMD3,synonymous_variant,p.=,ENST00000339701,;CSMD3,non_coding_transcript_exon_variant,,ENST00000534172,;	T	ENST00000297405	Transcript	synonymous_variant	10157/13212	9912/11124	3304/3707	G	ggC/ggA		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			62/71		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	1			1										PASS		rs1323355045	.												T	2	4	39	112255378	112255378	G	T	1	0	0	0	0	0	0	0	1	3747	1306	46	2		2	CSMD3	8	112255378	Silent	SNP	G	C3N-00175_TP	3136232	112255378	32883258	712	10862											
CSMD3	0	.	GRCh38	chr8	112666319	112666319	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgtccaggttcagcttcaAtcacccactcacaattcaaa	13	10	5	13	0	5	0	5	0	0	0	6	0	6	0	2	1	1	2	2	1	3	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2774T>A	p.Ile925Asn	p.I925N	ENST00000297405	17/71	444	367	77	316	316	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Ile925Asn,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Ile885Asn,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Ile821Asn,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Ile265Asn,ENST00000339701,;	T	ENST00000297405	Transcript	missense_variant	3019/13212	2774/11124	925/3707	I/N	aTt/aAt		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		17/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		rs1446780743	.												T	3	4	39	112666319	112666319	A	T	1	0	0	0	0	1	0	0	0	3747	101	4	4		4	CSMD3	8	112666319	Missense_Mutation	SNP	A	C3N-00175_TP	410941	112666319	32472317	713	10863											
DEPTOR	0	.	GRCh38	chr8	120003043	120003043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatgagcagctgtggcaGcagcggctacttcagcagca	10	6	13	12	1	1	1	1	1	0	0	1	1	1	1	0	2	8	8	0	2	1	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.857G>A	p.Ser286Asn	p.S286N	ENST00000286234	6/9	290	188	102	297	297	0	strelka-varscan-mutect	DEPTOR,missense_variant,p.Ser286Asn,ENST00000286234,NM_022783.3;DEPTOR,missense_variant,p.Ser185Asn,ENST00000523492,NM_001283012.1;DEPTOR,non_coding_transcript_exon_variant,,ENST00000518057,;	A	ENST00000286234	Transcript	missense_variant	987/2569	857/1230	286/409	S/N	aGc/aAc		1		1	DEPTOR	HGNC	HGNC:22953	protein_coding	YES	CCDS6331.1	ENSP00000286234	Q8TB45		UPI000013DE38	NM_022783.3	tolerated(0.07)		6/9		hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF18,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	120003043	120003043	G	A	1	0	0	0	0	1	0	0	0	4250	971	34	3		3	DEPTOR	8	120003043	Missense_Mutation	SNP	G	C3N-00175_TP	7336724	120003043	25135593	714	10864											
FER1L6	0	.	GRCh38	chr8	123980718	123980718	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaaaggtaaagacaaGgctgacaaaactgaagatgg	17	7	10	7	0	1	4	0	2	1	2	2	4	2	4	1	3	1	2	1	3	7	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1317G>C	p.Lys439Asn	p.K439N	ENST00000522917	11/41	287	164	123	260	260	0	strelka-varscan-mutect	FER1L6,missense_variant,p.Lys439Asn,ENST00000522917,NM_001039112.2;FER1L6-AS1,downstream_gene_variant,,ENST00000518567,;	C	ENST00000522917	Transcript	missense_variant	1523/6051	1317/5574	439/1857	K/N	aaG/aaC		1		1	FER1L6	HGNC	HGNC:28065	protein_coding	YES	CCDS43767.1	ENSP00000428280	Q2WGJ9		UPI0000E9B4AA	NM_001039112.2	tolerated(0.07)		11/41		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1390024412	.												C	3	2	39	123980718	123980718	G	C	1	0	0	0	0	1	0	0	0	5678	991	35	4		4	FER1L6	8	123980718	Missense_Mutation	SNP	G	C3N-00175_TP	3977675	123980718	21157918	715	10865											
ZNF572	0	.	GRCh38	chr8	124976994	124976994	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatcacatacaggtgaaaaAccatatgaatgttctgtctg	15	11	8	7	0	3	3	1	2	2	1	3	3	3	3	1	1	2	1	1	1	5	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.726A>C	p.Lys242Asn	p.K242N	ENST00000319286	3/3	425	345	80	287	287	0	strelka-varscan-mutect	ZNF572,missense_variant,p.Lys242Asn,ENST00000319286,NM_152412.2;	C	ENST00000319286	Transcript	missense_variant	880/3275	726/1590	242/529	K/N	aaA/aaC		1		1	ZNF572	HGNC	HGNC:26758	protein_coding	YES	CCDS6354.1	ENSP00000319305	Q7Z3I7		UPI0000140576	NM_152412.2	deleterious(0)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	124976994	124976994	A	C	1	0	0	0	0	1	0	0	0	18578	40	2	5		5	ZNF572	8	124976994	Missense_Mutation	SNP	A	C3N-00175_TP	996276	124976994	20161642	716	10866											
EFR3A	0	.	GRCh38	chr8	131955905	131955905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttagaccagtttttgCgtaagtagttggtgttttcc	6	18	11	6	1	0	1	0	0	0	1	1	1	1	1	2	1	2	7	2	1	3	8	rs759555318		C3N-00175_TP	C3N-00175_NB	C	C																c.776C>G	p.Ala259Gly	p.A259G	ENST00000254624	7/23	194	156	38	138	138	0	strelka-varscan-mutect	EFR3A,missense_variant,p.Ala259Gly,ENST00000254624,NM_001323553.1,NM_001323557.1,NM_015137.4;EFR3A,missense_variant,p.Ala223Gly,ENST00000519656,NM_001323553.1,NM_001323556.1,NM_001323557.1;EFR3A,missense_variant,p.Ala286Gly,ENST00000637848,;EFR3A,downstream_gene_variant,,ENST00000522709,;	G	ENST00000254624	Transcript	missense_variant,splice_region_variant	1001/5438	776/2466	259/821	A/G	gCg/gGg	rs759555318	1		1	EFR3A	HGNC	HGNC:28970	protein_coding	YES	CCDS34942.2	ENSP00000254624	Q14156		UPI00001C1E8F	NM_001323553.1,NM_001323557.1,NM_015137.4	tolerated(0.34)		7/23		Gene3D:1.25.10.10,hmmpanther:PTHR12444,hmmpanther:PTHR12444:SF1,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs759555318	.												G	3	3	39	131955905	131955905	C	G	1	0	0	0	0	1	0	0	0	4794	782	27	4		4	EFR3A	8	131955905	Missense_Mutation	SNP	C	C3N-00175_TP	6978911	131955905	13182731	717	10867											
TG	0	.	GRCh38	chr8	133022049	133022049	+	Frame_Shift_Del	DEL	A	A	-																															catggacagggaggagagtgAaggatggccggctatcgacg																								novel		C3N-00175_TP	C3N-00175_NB	A	A																c.6936delA	p.Gly2313AspfsTer31	p.G2313Dfs*31	ENST00000220616	40/48	495	317	178	383	383	0	sindel-varindel	TG,frameshift_variant,p.Gly2313AspfsTer31,ENST00000220616,NM_003235.4;TG,frameshift_variant,p.Gly769AspfsTer31,ENST00000519178,;TG,frameshift_variant,p.Gly446AspfsTer31,ENST00000519543,;TG,frameshift_variant,p.Gly109AspfsTer31,ENST00000518108,;TG,downstream_gene_variant,,ENST00000522523,;TG,3_prime_UTR_variant,,ENST00000523756,;	-	ENST00000220616	Transcript	frameshift_variant	6975/8450	6935/8307	2312/2768	E/X	gAa/ga		1		1	TG	HGNC	HGNC:11764	protein_coding	YES	CCDS34944.1	ENSP00000220616	P01266		UPI000013C79F	NM_003235.4			40/48		Gene3D:3.40.50.1820,Pfam_domain:PF00135,PIRSF_domain:PIRSF001831,Superfamily_domains:SSF53474																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	39	133022049	133022049	A	-	1	0	1	0	1	0	0	0	0	16246	246	9	0		0	TG	8	133022049	Frame_Shift_Del	DEL	A	C3N-00175_TP	1066144	133022049	12116587	718	10868	244	2									
TG	0	.	GRCh38	chr8	133022051	133022051	+	Nonsense_Mutation	SNP	G	G	T																															tggacagggaggagagtgaaGgatggccggctatcgacggc																										C3N-00175_TP	C3N-00175_NB	G	G																c.6937G>T	p.Gly2313Ter	p.G2313*	ENST00000220616	40/48	539	345	194	386	385	1	strelka-mutect	TG,stop_gained,p.Gly2313Ter,ENST00000220616,NM_003235.4;TG,stop_gained,p.Gly769Ter,ENST00000519178,;TG,stop_gained,p.Gly446Ter,ENST00000519543,;TG,stop_gained,p.Gly109Ter,ENST00000518108,;TG,downstream_gene_variant,,ENST00000522523,;TG,3_prime_UTR_variant,,ENST00000523756,;	T	ENST00000220616	Transcript	stop_gained	6977/8450	6937/8307	2313/2768	G/*	Gga/Tga	COSM4556485	1		1	TG	HGNC	HGNC:11764	protein_coding	YES	CCDS34944.1	ENSP00000220616	P01266		UPI000013C79F	NM_003235.4			40/48		Gene3D:3.40.50.1820,Pfam_domain:PF00135,PIRSF_domain:PIRSF001831,Superfamily_domains:SSF53474											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	39	133022051	133022051	G	T	1	0	0	0	0	0	1	0	0	16246	1001	35	2		2	TG	8	133022051	Nonsense_Mutation	SNP	G	C3N-00175_TP	2	133022051	12116585	719	10869	244	2									
ZFAT	0	.	GRCh38	chr8	134520955	134520955	+	Missense_Mutation	SNP	C	C	A																															ttcaagtgcctattgaactcCcatttggtgccatatacaaa																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3162G>T	p.Trp1054Cys	p.W1054C	ENST00000377838	13/16	190	138	52	217	217	0	strelka-varscan-mutect	ZFAT,missense_variant,p.Trp1042Cys,ENST00000520727,NM_001029939.3,NM_001289394.1;ZFAT,missense_variant,p.Trp1054Cys,ENST00000377838,NM_020863.3;ZFAT,missense_variant,p.Trp1042Cys,ENST00000429442,;ZFAT,missense_variant,p.Trp1042Cys,ENST00000520214,NM_001167583.2;ZFAT,missense_variant,p.Trp1042Cys,ENST00000520356,NM_001174158.1;ZFAT,missense_variant,p.Trp992Cys,ENST00000523399,NM_001174157.1;ZFAT,non_coding_transcript_exon_variant,,ENST00000517307,;ZFAT,3_prime_UTR_variant,,ENST00000523243,;ZFAT,3_prime_UTR_variant,,ENST00000523924,;ZFAT,non_coding_transcript_exon_variant,,ENST00000518408,;	A	ENST00000377838	Transcript	missense_variant	3337/4597	3162/3732	1054/1243	W/C	tgG/tgT		1		-1	ZFAT	HGNC	HGNC:19899	protein_coding	YES	CCDS47924.1	ENSP00000367069	Q9P243		UPI0000210061	NM_020863.3	deleterious(0)		13/16		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF218,PROSITE_patterns:PS00028,SMART_domains:SM00355																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	134520955	134520955	C	A	1	0	0	0	0	1	0	0	0	18209	624	22	2		2	ZFAT	8	134520955	Missense_Mutation	SNP	C	C3N-00175_TP	1498904	134520955	10617681	720	10870	245	2									
ZFAT	0	.	GRCh38	chr8	134520956	134520956	+	Missense_Mutation	SNP	C	C	A																															tcaagtgcctattgaactccCatttggtgccatatacaaag																										C3N-00175_TP	C3N-00175_NB	C	C																c.3161G>T	p.Trp1054Leu	p.W1054L	ENST00000377838	13/16	190	136	54	218	218	0	strelka-varscan-mutect	ZFAT,missense_variant,p.Trp1042Leu,ENST00000520727,NM_001029939.3,NM_001289394.1;ZFAT,missense_variant,p.Trp1054Leu,ENST00000377838,NM_020863.3;ZFAT,missense_variant,p.Trp1042Leu,ENST00000429442,;ZFAT,missense_variant,p.Trp1042Leu,ENST00000520214,NM_001167583.2;ZFAT,missense_variant,p.Trp1042Leu,ENST00000520356,NM_001174158.1;ZFAT,missense_variant,p.Trp992Leu,ENST00000523399,NM_001174157.1;ZFAT,non_coding_transcript_exon_variant,,ENST00000517307,;ZFAT,3_prime_UTR_variant,,ENST00000523243,;ZFAT,3_prime_UTR_variant,,ENST00000523924,;ZFAT,non_coding_transcript_exon_variant,,ENST00000518408,;	A	ENST00000377838	Transcript	missense_variant	3336/4597	3161/3732	1054/1243	W/L	tGg/tTg	COSM749238	1		-1	ZFAT	HGNC	HGNC:19899	protein_coding	YES	CCDS47924.1	ENSP00000367069	Q9P243		UPI0000210061	NM_020863.3	deleterious(0)		13/16		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF218,PROSITE_patterns:PS00028,SMART_domains:SM00355											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	39	134520956	134520956	C	A	1	0	0	0	0	1	0	0	0	18209	595	21	2		2	ZFAT	8	134520956	Missense_Mutation	SNP	C	C3N-00175_TP	1	134520956	10617680	721	10871	245	2									
COL22A1	0	.	GRCh38	chr8	138693701	138693701	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgtcccttggcacccTgcacaggaaataaaagaggg	11	8	10	12	0	0	1	0	0	0	1	2	2	2	2	3	3	1	2	3	3	3	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.2701-2A>T		p.X901_splice	ENST00000303045		315	190	125	223	222	1	strelka-varscan-mutect	COL22A1,splice_acceptor_variant,,ENST00000303045,NM_152888.2;COL22A1,splice_acceptor_variant,,ENST00000435777,;COL22A1,splice_acceptor_variant,,ENST00000341807,;	A	ENST00000303045	Transcript	splice_acceptor_variant	-/6346	2701/4881	901/1626				1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2				34/64																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	39	138693701	138693701	T	A	1	0	0	0	0	0	0	1	0	3469	1594	55	4		4	COL22A1	8	138693701	Splice_Site	SNP	T	C3N-00175_TP	4172745	138693701	6444935	722	10872											
ARC	0	.	GRCh38	chr8	142613833	142613833	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacgcccacggaaacggTgtggcgggctgactcgctgc	6	5	14	16	5	0	1	0	1	0	0	1	2	0	2	3	4	2	2	3	4	1	0	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.439A>T	p.Thr147Ser	p.T147S	ENST00000356613	1/3	210	178	32	162	162	0	strelka-varscan-mutect	ARC,missense_variant,p.Thr147Ser,ENST00000356613,NM_015193.4;ARC,upstream_gene_variant,,ENST00000581404,;	A	ENST00000356613	Transcript	missense_variant	640/2948	439/1191	147/396	T/S	Acc/Tcc		1		-1	ARC	HGNC	HGNC:648	protein_coding	YES	CCDS34950.1	ENSP00000349022	Q7LC44		UPI0000163B0F	NM_015193.4	tolerated_low_confidence(0.34)		1/3		hmmpanther:PTHR15962																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	142613833	142613833	T	A	1	0	0	0	0	1	0	0	0	963	1696	59	4		4	ARC	8	142613833	Missense_Mutation	SNP	T	C3N-00175_TP	3920132	142613833	2524803	723	10873											
LY6D	0	.	GRCh38	chr8	142785347	142785347	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcattgcacaggtcctcctgGcagcactgggtggagctggt	6	10	14	11	0	1	0	1	0	0	0	3	1	3	1	2	5	3	4	2	5	0	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.261C>A	p.Cys87Ter	p.C87*	ENST00000301263	3/3	315	271	44	308	308	0	strelka-varscan-mutect	LY6D,stop_gained,p.Cys87Ter,ENST00000301263,NM_003695.2;RP11-706C16.8,upstream_gene_variant,,ENST00000510610,;LY6D,non_coding_transcript_exon_variant,,ENST00000518434,;LY6D,non_coding_transcript_exon_variant,,ENST00000518469,;LY6D,non_coding_transcript_exon_variant,,ENST00000518884,;	T	ENST00000301263	Transcript	stop_gained	337/804	261/387	87/128	C/*	tgC/tgA		1		-1	LY6D	HGNC	HGNC:13348	protein_coding	YES	CCDS6390.1	ENSP00000301263	Q14210		UPI000002E184	NM_003695.2			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR16982,hmmpanther:PTHR16982:SF2,Gene3D:2.10.60.10,Pfam_domain:PF00021,SMART_domains:SM00134,Superfamily_domains:SSF57302																	HIGH	1	SNV	1			1										PASS		rs1462191781	.												T	4	4	39	142785347	142785347	G	T	1	0	0	0	0	0	1	0	0	9000	1195	42	2		2	LY6D	8	142785347	Nonsense_Mutation	SNP	G	C3N-00175_TP	171514	142785347	2353289	724	10874											
ZC3H3	0	.	GRCh38	chr8	143538493	143538493	+	Missense_Mutation	SNP	C	C	A																															aaccagcgaggcctcccgggCctgcctgggtcctgaggccg																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.874G>T	p.Ala292Ser	p.A292S	ENST00000262577	2/12	291	172	119	256	253	3	strelka-varscan-mutect	ZC3H3,missense_variant,p.Ala292Ser,ENST00000262577,NM_015117.2;RP11-661A12.5,downstream_gene_variant,,ENST00000530600,;RP11-661A12.4,upstream_gene_variant,,ENST00000517300,;RN7SKP175,upstream_gene_variant,,ENST00000408472,;	A	ENST00000262577	Transcript	missense_variant	906/3280	874/2847	292/948	A/S	Gcc/Tcc		1		-1	ZC3H3	HGNC	HGNC:28972	protein_coding	YES	CCDS6402.1	ENSP00000262577	Q8IXZ2		UPI0000160D96	NM_015117.2	deleterious(0.02)		2/12		hmmpanther:PTHR23102																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	143538493	143538493	C	A	1	0	0	0	0	1	0	0	0	18144	739	26	2		2	ZC3H3	8	143538493	Missense_Mutation	SNP	C	C3N-00175_TP	753146	143538493	1600143	725	10875	246	2									
ZC3H3	0	.	GRCh38	chr8	143538494	143538494	+	Missense_Mutation	SNP	C	C	G																															accagcgaggcctcccgggcCtgcctgggtcctgaggccgg																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.873G>C	p.Gln291His	p.Q291H	ENST00000262577	2/12	282	166	116	257	257	0	strelka-varscan-mutect	ZC3H3,missense_variant,p.Gln291His,ENST00000262577,NM_015117.2;RP11-661A12.5,downstream_gene_variant,,ENST00000530600,;RP11-661A12.4,upstream_gene_variant,,ENST00000517300,;RN7SKP175,upstream_gene_variant,,ENST00000408472,;	G	ENST00000262577	Transcript	missense_variant	905/3280	873/2847	291/948	Q/H	caG/caC		1		-1	ZC3H3	HGNC	HGNC:28972	protein_coding	YES	CCDS6402.1	ENSP00000262577	Q8IXZ2		UPI0000160D96	NM_015117.2	deleterious(0.03)		2/12		hmmpanther:PTHR23102																	MODERATE	1	SNV	1			1										PASS		rs994185859	.												G	3	3	39	143538494	143538494	C	G	1	0	0	0	0	1	0	0	0	18144	680	24	4		4	ZC3H3	8	143538494	Missense_Mutation	SNP	C	C3N-00175_TP	1	143538494	1600142	726	10876	246	2									
TIGD5	0	.	GRCh38	chr8	143598299	143598299	+	Missense_Mutation	SNP	C	C	A																															cgcgccgtgtacgcctggttCctggcgctgcgccagcacgg																								rs571709743		C3N-00175_TP	C3N-00175_NB	C	C																c.396C>A	p.Phe132Leu	p.F132L	ENST00000504548	1/1	390	340	50	330	330	0	strelka-varscan-mutect	TIGD5,missense_variant,p.Phe132Leu,ENST00000504548,NM_032862.4;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000618139,;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001289950.1,NM_001960.4;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;EEF1D,upstream_gene_variant,,ENST00000530848,;	A	ENST00000504548	Transcript	missense_variant	465/5390	396/1929	132/642	F/L	ttC/ttA	rs571709743,COSM3646083	1		1	TIGD5	HGNC	HGNC:18336	protein_coding	YES	CCDS6406.2	ENSP00000421489	Q53EQ6		UPI0001BAE24C	NM_032862.4	deleterious(0)		1/1		PROSITE_profiles:PS51253,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF283,Pfam_domain:PF03221,Gene3D:1.10.10.60,SMART_domains:SM00674,Superfamily_domains:SSF46689											0,1						MODERATE		SNV			0,1	1										PASS		rs571709743	.												A	3	1	39	143598299	143598299	C	A	1	0	0	0	0	1	0	0	0	16337	854	30	2		2	TIGD5	8	143598299	Missense_Mutation	SNP	C	C3N-00175_TP	59805	143598299	1540337	727	10877	247	2									
TIGD5	0	.	GRCh38	chr8	143598301	143598301	+	Missense_Mutation	SNP	T	T	A																															cgccgtgtacgcctggttccTggcgctgcgccagcacgggg																								novel		C3N-00175_TP	C3N-00175_NB	T	T																c.398T>A	p.Leu133Gln	p.L133Q	ENST00000504548	1/1	380	329	51	328	328	0	strelka-varscan-mutect	TIGD5,missense_variant,p.Leu133Gln,ENST00000504548,NM_032862.4;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000618139,;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001289950.1,NM_001960.4;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;EEF1D,upstream_gene_variant,,ENST00000530848,;	A	ENST00000504548	Transcript	missense_variant	467/5390	398/1929	133/642	L/Q	cTg/cAg		1		1	TIGD5	HGNC	HGNC:18336	protein_coding	YES	CCDS6406.2	ENSP00000421489	Q53EQ6		UPI0001BAE24C	NM_032862.4	deleterious(0)		1/1		PROSITE_profiles:PS51253,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF283,Pfam_domain:PF03221,Gene3D:1.10.10.60,SMART_domains:SM00674,Superfamily_domains:SSF46689																	MODERATE		SNV				1										PASS		.	.												A	3	1	39	143598301	143598301	T	A	1	0	0	0	0	1	0	0	0	16337	1580	55	4		4	TIGD5	8	143598301	Missense_Mutation	SNP	T	C3N-00175_TP	2	143598301	1540335	728	10878	247	2									
CCDC166	0	.	GRCh38	chr8	143707175	143707175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccggccgctcccagagcGgcgggcctccggggcccctg	3	3	17	18	5	0	1	0	0	0	1	2	1	2	1	7	6	1	1	7	6	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.839C>A	p.Pro280Gln	p.P280Q	ENST00000542437	2/2	46	33	13	26	26	0	strelka-varscan-mutect	CCDC166,missense_variant,p.Pro280Gln,ENST00000542437,NM_001162914.1;RP11-429J17.4,downstream_gene_variant,,ENST00000527579,;ZNF707,intron_variant,,ENST00000527561,;ZNF707,upstream_gene_variant,,ENST00000508587,;	T	ENST00000542437	Transcript	missense_variant	839/1320	839/1320	280/439	P/Q	cCg/cAg		1		-1	CCDC166	HGNC	HGNC:41910	protein_coding	YES	CCDS55280.1	ENSP00000437468	P0CW27		UPI00016623E2	NM_001162914.1	deleterious(0.02)		2/2		hmmpanther:PTHR14845,hmmpanther:PTHR14845:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	143707175	143707175	G	T	1	0	0	0	0	1	0	0	0	2482	1116	39	1		1	CCDC166	8	143707175	Missense_Mutation	SNP	G	C3N-00175_TP	108874	143707175	1431461	729	10879											
FAM83H	0	.	GRCh38	chr8	143727799	143727799	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggggtctgggcccggcctCgccgcggcctggcatgggaa	3	5	19	14	5	1	0	0	0	1	0	2	1	1	1	4	7	0	1	4	7	1	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1662G>A	p.=	p.A554A	ENST00000388913	5/5	190	173	17	51	51	0	strelka-varscan-mutect	FAM83H,synonymous_variant,p.=,ENST00000388913,NM_198488.3;FAM83H,synonymous_variant,p.=,ENST00000395103,;	T	ENST00000388913	Transcript	synonymous_variant	1788/5654	1662/3540	554/1179	A	gcG/gcA		1		-1	FAM83H	HGNC	HGNC:24797	protein_coding	YES	CCDS6410.2	ENSP00000373565	Q6ZRV2		UPI00001D823F	NM_198488.3			5/5		hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF8,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs1390924637	.												T	2	4	39	143727799	143727799	C	T	1	0	0	0	0	0	0	0	1	5498	871	31	1		1	FAM83H	8	143727799	Silent	SNP	C	C3N-00175_TP	20624	143727799	1410837	730	10880											
SLC52A2	0	.	GRCh38	chr8	144360172	144360172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accaccatctgtacccacagGggagttaggatcaggcctcc	10	7	10	14	0	2	0	1	0	1	0	3	2	3	2	5	4	1	2	5	4	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.680G>T	p.Gly227Val	p.G227V	ENST00000532887	3/5	458	390	68	448	448	0	strelka-varscan-mutect	SLC52A2,missense_variant,p.Gly227Val,ENST00000532887,;SLC52A2,missense_variant,p.Gly227Val,ENST00000329994,NM_024531.4;SLC52A2,missense_variant,p.Gly227Val,ENST00000527078,;SLC52A2,missense_variant,p.Gly227Val,ENST00000402965,NM_001253815.1;SLC52A2,missense_variant,p.Gly227Val,ENST00000530047,NM_001253816.1;SLC52A2,missense_variant,p.Gly63Val,ENST00000526338,;SLC52A2,intron_variant,,ENST00000526752,;FBXL6,upstream_gene_variant,,ENST00000331890,NM_012162.3;FBXL6,upstream_gene_variant,,ENST00000455319,NM_024555.5;SLC52A2,downstream_gene_variant,,ENST00000534725,;SLC52A2,downstream_gene_variant,,ENST00000524541,;FBXL6,upstream_gene_variant,,ENST00000526524,;FBXL6,upstream_gene_variant,,ENST00000527000,;SLC52A2,downstream_gene_variant,,ENST00000526891,;SLC52A2,downstream_gene_variant,,ENST00000532815,;FBXL6,upstream_gene_variant,,ENST00000530687,;FBXL6,upstream_gene_variant,,ENST00000524909,;SLC52A2,missense_variant,p.Gly86Trp,ENST00000526779,;FBXL6,upstream_gene_variant,,ENST00000530142,;FBXL6,upstream_gene_variant,,ENST00000524492,;GS1-393G12.13,upstream_gene_variant,,ENST00000531225,;SLC52A2,downstream_gene_variant,,ENST00000533662,;FBXL6,upstream_gene_variant,,ENST00000529279,;	T	ENST00000532887	Transcript	missense_variant	1263/2147	680/1338	227/445	G/V	gGg/gTg		1		1	SLC52A2	HGNC	HGNC:30224	protein_coding	YES	CCDS6423.1	ENSP00000436768	Q9HAB3		UPI000004470A		tolerated(0.24)		3/5		hmmpanther:PTHR12929:SF9,hmmpanther:PTHR12929																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	39	144360172	144360172	G	T	1	0	0	0	0	1	0	0	0	14942	1232	43	2		2	SLC52A2	8	144360172	Missense_Mutation	SNP	G	C3N-00175_TP	632373	144360172	778464	731	10881											
ZNF16	0	.	GRCh38	chr8	144932350	144932350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatctttctcccctaaggggCccctaaggagccccatggca	8	8	10	15	0	2	0	0	0	2	0	3	2	2	1	6	4	1	1	6	4	2	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.437G>T	p.Gly146Val	p.G146V	ENST00000276816	4/4	340	319	21	233	233	0	strelka-varscan-mutect	ZNF16,missense_variant,p.Gly146Val,ENST00000276816,NM_001029976.2;ZNF16,missense_variant,p.Gly146Val,ENST00000611477,NM_006958.2;ZNF16,missense_variant,p.Gly146Val,ENST00000394909,;ZNF16,missense_variant,p.Gly146Val,ENST00000532351,;ZNF16,downstream_gene_variant,,ENST00000527811,;ZNF16,non_coding_transcript_exon_variant,,ENST00000532811,;ZNF16,downstream_gene_variant,,ENST00000527512,;	A	ENST00000276816	Transcript	missense_variant	624/2616	437/2049	146/682	G/V	gGc/gTc		1		-1	ZNF16	HGNC	HGNC:12947	protein_coding	YES	CCDS6437.1	ENSP00000276816	P17020		UPI00001E058F	NM_001029976.2	tolerated(0.29)		4/4																			MODERATE	1	SNV	1			1										PASS		rs996427319	.												A	3	1	39	144932350	144932350	C	A	1	0	0	0	0	1	0	0	0	18319	739	26	2		2	ZNF16	8	144932350	Missense_Mutation	SNP	C	C3N-00175_TP	572178	144932350	206286	732	10882											
SMARCA2	0	.	GRCh38	chr9	2033044	2033044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaccacctcacccaggcatGggccctccccagagtccaat	9	5	8	19	1	1	1	1	0	0	1	3	2	3	1	7	2	0	1	7	2	1	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.318G>T	p.Met106Ile	p.M106I	ENST00000382203	3/34	173	131	42	167	166	1	strelka-varscan-mutect	SMARCA2,missense_variant,p.Met106Ile,ENST00000637806,;SMARCA2,missense_variant,p.Met106Ile,ENST00000636559,;SMARCA2,missense_variant,p.Met106Ile,ENST00000382203,NM_001289396.1;SMARCA2,missense_variant,p.Met106Ile,ENST00000357248,NM_139045.3;SMARCA2,missense_variant,p.Met106Ile,ENST00000349721,NM_003070.4;SMARCA2,missense_variant,p.Met106Ile,ENST00000382194,;SMARCA2,missense_variant,p.Met106Ile,ENST00000637103,;SMARCA2,missense_variant,p.Met106Ile,ENST00000450198,NM_001289397.1;SMARCA2,missense_variant,p.Met106Ile,ENST00000636903,;SMARCA2,missense_variant,p.Met106Ile,ENST00000439732,;SMARCA2,missense_variant,p.Met106Ile,ENST00000457226,;SMARCA2,missense_variant,p.Met13Ile,ENST00000634287,;SMARCA2,downstream_gene_variant,,ENST00000637383,;SMARCA2,downstream_gene_variant,,ENST00000637352,;SMARCA2,downstream_gene_variant,,ENST00000636221,;SMARCA2,downstream_gene_variant,,ENST00000637097,;SMARCA2,downstream_gene_variant,,ENST00000637134,;SMARCA2,non_coding_transcript_exon_variant,,ENST00000491574,;SMARCA2,missense_variant,p.Met106Ile,ENST00000634760,;SMARCA2,non_coding_transcript_exon_variant,,ENST00000634536,;	T	ENST00000382203	Transcript	missense_variant	527/5867	318/4773	106/1590	M/I	atG/atT		1		1	SMARCA2	HGNC	HGNC:11098	protein_coding	YES	CCDS34977.1	ENSP00000371638	P51531		UPI00001AE8EB	NM_001289396.1	tolerated_low_confidence(0.05)		3/34		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF541,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	2033044	2033044	G	T	1	0	0	0	0	1	0	0	0	15062	1348	47	2		2	SMARCA2	9	2033044	Missense_Mutation	SNP	G	C3N-00175_TP		2033044	136361673	733	10883											
RFX3	0	.	GRCh38	chr9	3225050	3225050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttaatattctttagactgCagtgtaggtatttcctgtag	9	18	8	6	0	1	1	0	0	1	1	2	1	2	1	1	1	1	4	1	1	6	10	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2242G>T	p.Ala748Ser	p.A748S	ENST00000382004	18/18	170	143	27	185	184	1	strelka-varscan-mutect	RFX3,missense_variant,p.Ala748Ser,ENST00000382004,NM_134428.2;RFX3,missense_variant,p.Ala748Ser,ENST00000617270,NM_001282116.1;	A	ENST00000382004	Transcript	missense_variant	2554/9307	2242/2250	748/749	A/S	Gca/Tca		1		-1	RFX3	HGNC	HGNC:9984	protein_coding	YES	CCDS6449.1	ENSP00000371434	P48380		UPI0000070BFB	NM_134428.2	tolerated_low_confidence(0.42)		18/18		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	3225050	3225050	C	A	1	0	0	0	0	1	0	0	0	13438	710	25	2		2	RFX3	9	3225050	Missense_Mutation	SNP	C	C3N-00175_TP	1192006	3225050	135169667	734	10884											
PTPRD	0	.	GRCh38	chr9	8389260	8389260	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctagttttgtcatcAtgacaactgtggcactccgt	7	17	7	10	1	4	1	2	1	2	0	5	1	5	1	1	1	1	2	1	1	2	5	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.4358T>A	p.Met1453Lys	p.M1453K	ENST00000381196	34/43	82	71	11	105	105	0	strelka-varscan-mutect	PTPRD,missense_variant,p.Met1453Lys,ENST00000381196,NM_002839.3;PTPRD,missense_variant,p.Met1453Lys,ENST00000356435,;PTPRD,missense_variant,p.Met1047Lys,ENST00000355233,NM_130392.3;PTPRD,missense_variant,p.Met1046Lys,ENST00000397617,;PTPRD,missense_variant,p.Met1043Lys,ENST00000397611,NM_001040712.2;PTPRD,missense_variant,p.Met1037Lys,ENST00000537002,NM_130393.3;PTPRD,missense_variant,p.Met1453Lys,ENST00000540109,;PTPRD,missense_variant,p.Met1046Lys,ENST00000486161,NM_130391.3;PTPRD,missense_variant,p.Met1046Lys,ENST00000397606,NM_001171025.1;	T	ENST00000381196	Transcript	missense_variant	4902/9911	4358/5739	1453/1912	M/K	aTg/aAg		1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3	deleterious(0)		34/43		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF313,SMART_domains:SM00194,Superfamily_domains:SSF52799																	MODERATE	1	SNV	5			1										PASS		rs971884436	.												T	3	4	39	8389260	8389260	A	T	1	0	0	0	0	1	0	0	0	12953	217	8	4		4	PTPRD	9	8389260	Missense_Mutation	SNP	A	C3N-00175_TP	5164210	8389260	130005457	735	10885											
PTPRD	0	.	GRCh38	chr9	8436626	8436626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaacttcaagttgtcatttGctttcaatctttcaatgtgg	11	17	6	7	0	5	0	4	0	1	0	5	0	5	0	0	1	2	2	0	1	5	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.4052C>T	p.Ala1351Val	p.A1351V	ENST00000381196	32/43	178	160	18	217	217	0	strelka-mutect	PTPRD,missense_variant,p.Ala1351Val,ENST00000381196,NM_002839.3;PTPRD,missense_variant,p.Ala1351Val,ENST00000356435,;PTPRD,missense_variant,p.Ala945Val,ENST00000355233,NM_130392.3;PTPRD,missense_variant,p.Ala944Val,ENST00000397617,;PTPRD,missense_variant,p.Ala941Val,ENST00000397611,NM_001040712.2;PTPRD,missense_variant,p.Ala935Val,ENST00000537002,NM_130393.3;PTPRD,missense_variant,p.Ala1351Val,ENST00000540109,;PTPRD,missense_variant,p.Ala944Val,ENST00000486161,NM_130391.3;PTPRD,missense_variant,p.Ala944Val,ENST00000397606,NM_001171025.1;PTPRD,downstream_gene_variant,,ENST00000637354,;	A	ENST00000381196	Transcript	missense_variant	4596/9911	4052/5739	1351/1912	A/V	gCa/gTa		1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3	deleterious(0)		32/43		Gene3D:3.90.190.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF313,Superfamily_domains:SSF52799																	MODERATE	1	SNV	5			1										PASS		rs1404460582	.												A	3	1	39	8436626	8436626	G	A	1	0	0	0	0	1	0	0	0	12953	1319	46	3		3	PTPRD	9	8436626	Missense_Mutation	SNP	G	C3N-00175_TP	47366	8436626	129958091	736	10886											
PTPRD	0	.	GRCh38	chr9	8460539	8460539	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagatccattgacaccacGgggtcggagtaagggctggt	9	8	14	10	2	0	2	0	1	0	1	3	3	2	3	3	5	0	2	3	5	1	2	rs200683418		C3N-00175_TP	C3N-00175_NB	G	G																c.3747C>G	p.=	p.P1249P	ENST00000381196	30/43	168	134	34	188	188	0	strelka-varscan-mutect	PTPRD,synonymous_variant,p.=,ENST00000381196,NM_002839.3;PTPRD,synonymous_variant,p.=,ENST00000356435,;PTPRD,synonymous_variant,p.=,ENST00000355233,NM_130392.3;PTPRD,synonymous_variant,p.=,ENST00000397617,;PTPRD,synonymous_variant,p.=,ENST00000397611,NM_001040712.2;PTPRD,synonymous_variant,p.=,ENST00000537002,NM_130393.3;PTPRD,synonymous_variant,p.=,ENST00000540109,;PTPRD,synonymous_variant,p.=,ENST00000486161,NM_130391.3;PTPRD,synonymous_variant,p.=,ENST00000397606,NM_001171025.1;PTPRD,synonymous_variant,p.=,ENST00000637354,;	C	ENST00000381196	Transcript	synonymous_variant	4291/9911	3747/5739	1249/1912	P	ccC/ccG	rs200683418,COSM3658842,COSM3658843,COSM3658844,COSM3658845,COSM3658846,COSM3658847	1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3			30/43		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF313,Superfamily_domains:SSF49265											0,1,1,1,1,1,1						LOW	1	SNV	5		0,1,1,1,1,1,1	1										PASS		rs200683418	.												C	2	2	39	8460539	8460539	G	C	1	0	0	0	0	0	0	0	1	12953	1103	39	4		4	PTPRD	9	8460539	Silent	SNP	G	C3N-00175_TP	23913	8460539	129934178	737	10887											
PTPRD	0	.	GRCh38	chr9	8486265	8486265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacggtagccctgaagaggtCcaaatgtgtccaccggaggg	10	6	15	10	2	0	2	0	1	0	1	2	4	2	3	4	4	1	1	4	4	3	1	rs143196383		C3N-00175_TP	C3N-00175_NB	C	C																c.2552G>T	p.Gly851Val	p.G851V	ENST00000381196	25/43	187	162	25	234	234	0	strelka-varscan-mutect	PTPRD,missense_variant,p.Gly851Val,ENST00000381196,NM_002839.3;PTPRD,missense_variant,p.Gly851Val,ENST00000356435,;PTPRD,missense_variant,p.Gly851Val,ENST00000540109,;PTPRD,intron_variant,,ENST00000355233,NM_130392.3;PTPRD,intron_variant,,ENST00000397617,;PTPRD,intron_variant,,ENST00000397611,NM_001040712.2;PTPRD,intron_variant,,ENST00000537002,NM_130393.3;PTPRD,intron_variant,,ENST00000486161,NM_130391.3;PTPRD,intron_variant,,ENST00000397606,NM_001171025.1;PTPRD,upstream_gene_variant,,ENST00000637354,;PTPRD,non_coding_transcript_exon_variant,,ENST00000471274,;PTPRD,upstream_gene_variant,,ENST00000477552,;	A	ENST00000381196	Transcript	missense_variant	3096/9911	2552/5739	851/1912	G/V	gGa/gTa	rs143196383	1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3	deleterious(0.01)		25/43		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		rs143196383	.												A	3	1	39	8486265	8486265	C	A	1	0	0	0	0	1	0	0	0	12953	855	30	2		2	PTPRD	9	8486265	Missense_Mutation	SNP	C	C3N-00175_TP	25726	8486265	129908452	738	10888											
PTPRD	0	.	GRCh38	chr9	8518422	8518422	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggagttcctggaggtttGggtaaggcttggatggggga	8	10	19	4	0	0	0	0	0	0	0	1	4	1	4	1	8	0	4	1	8	1	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.969C>G	p.=	p.P323P	ENST00000381196	18/43	56	45	11	62	62	0	strelka-varscan-mutect	PTPRD,synonymous_variant,p.=,ENST00000381196,NM_002839.3;PTPRD,synonymous_variant,p.=,ENST00000356435,;PTPRD,synonymous_variant,p.=,ENST00000355233,NM_130392.3;PTPRD,synonymous_variant,p.=,ENST00000397617,;PTPRD,synonymous_variant,p.=,ENST00000397611,NM_001040712.2;PTPRD,synonymous_variant,p.=,ENST00000537002,NM_130393.3;PTPRD,synonymous_variant,p.=,ENST00000540109,;PTPRD,synonymous_variant,p.=,ENST00000486161,NM_130391.3;PTPRD,synonymous_variant,p.=,ENST00000397606,NM_001171025.1;	C	ENST00000381196	Transcript	synonymous_variant	1513/9911	969/5739	323/1912	P	ccC/ccG		1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3			18/43		Gene3D:2.60.40.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF313,SMART_domains:SM00060,Superfamily_domains:SSF48726,Superfamily_domains:SSF49265																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	39	8518422	8518422	G	C	1	0	0	0	0	0	0	0	1	12953	1335	47	4		4	PTPRD	9	8518422	Silent	SNP	G	C3N-00175_TP	32157	8518422	129876295	739	10889											
PTPRD	0	.	GRCh38	chr9	8521372	8521372	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcttacatcattcagttctAgcacatttcttcctattggc	8	17	5	11	0	5	0	2	0	3	0	6	0	6	0	1	1	2	2	1	1	3	8			C3N-00175_TP	C3N-00175_NB	A	A																c.866T>A	p.Leu289Gln	p.L289Q	ENST00000381196	17/43	283	248	35	227	227	0	strelka-varscan-mutect	PTPRD,missense_variant,p.Leu289Gln,ENST00000381196,NM_002839.3;PTPRD,missense_variant,p.Leu289Gln,ENST00000356435,;PTPRD,missense_variant,p.Leu289Gln,ENST00000355233,NM_130392.3;PTPRD,missense_variant,p.Leu279Gln,ENST00000397617,;PTPRD,missense_variant,p.Leu286Gln,ENST00000397611,NM_001040712.2;PTPRD,missense_variant,p.Leu283Gln,ENST00000537002,NM_130393.3;PTPRD,missense_variant,p.Leu289Gln,ENST00000540109,;PTPRD,missense_variant,p.Leu289Gln,ENST00000486161,NM_130391.3;PTPRD,missense_variant,p.Leu279Gln,ENST00000397606,NM_001171025.1;PTPRD,downstream_gene_variant,,ENST00000488774,;	T	ENST00000381196	Transcript	missense_variant	1410/9911	866/5739	289/1912	L/Q	cTa/cAa	COSM33132	1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3	deleterious(0)		17/43		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF313,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	39	8521372	8521372	A	T	1	0	0	0	0	1	0	0	0	12953	420	15	4		4	PTPRD	9	8521372	Missense_Mutation	SNP	A	C3N-00175_TP	2950	8521372	129873345	740	10890											
BNC2	0	.	GRCh38	chr9	16419341	16419341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagaatcccctcatcgctgCctgcgtcggattctctggag	7	10	11	13	3	2	1	1	0	1	1	6	4	3	3	3	2	2	1	3	2	2	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2948G>T	p.Gly983Val	p.G983V	ENST00000380672	7/7	75	62	13	70	70	0	strelka-varscan-mutect	BNC2,missense_variant,p.Gly983Val,ENST00000380672,NM_001317940.1,NM_017637.5;BNC2,missense_variant,p.Gly916Val,ENST00000380667,;BNC2,3_prime_UTR_variant,,ENST00000545497,;BNC2,3_prime_UTR_variant,,ENST00000418777,;BNC2,3_prime_UTR_variant,,ENST00000411752,;BNC2,3_prime_UTR_variant,,ENST00000484726,;	A	ENST00000380672	Transcript	missense_variant	3006/12844	2948/3300	983/1099	G/V	gGc/gTc		1		-1	BNC2	HGNC	HGNC:30988	protein_coding	YES	CCDS6482.2	ENSP00000370047	Q6ZN30		UPI000035E7B0	NM_001317940.1,NM_017637.5	tolerated(0.19)		7/7		hmmpanther:PTHR15021:SF2,hmmpanther:PTHR15021																	MODERATE	1	SNV	2			1										PASS		rs1330774623	.												A	3	1	39	16419341	16419341	C	A	1	0	0	0	0	1	0	0	0	1631	739	26	2		2	BNC2	9	16419341	Missense_Mutation	SNP	C	C3N-00175_TP	7897969	16419341	121975376	741	10891											
HAUS6	0	.	GRCh38	chr9	19058274	19058274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtatctactgcgaagagcCtgtaaattaaagtctgattc	12	13	8	8	2	2	2	0	1	2	1	4	3	2	2	1	0	3	2	1	0	7	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2493G>T	p.Gln831His	p.Q831H	ENST00000380502	16/17	124	99	25	157	157	0	strelka-varscan-mutect	HAUS6,missense_variant,p.Gln831His,ENST00000380502,NM_001270890.1,NM_017645.4;HAUS6,missense_variant,p.Gln695His,ENST00000380496,;HAUS6,downstream_gene_variant,,ENST00000415524,;	A	ENST00000380502	Transcript	missense_variant	2961/6536	2493/2868	831/955	Q/H	caG/caT		1		-1	HAUS6	HGNC	HGNC:25948	protein_coding	YES	CCDS6489.1	ENSP00000369871	Q7Z4H7		UPI00000740C7	NM_001270890.1,NM_017645.4	tolerated(0.11)		16/17		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16151																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	19058274	19058274	C	A	1	0	0	0	0	1	0	0	0	6856	680	24	2		2	HAUS6	9	19058274	Missense_Mutation	SNP	C	C3N-00175_TP	2638933	19058274	119336443	742	10892											
IFNA6	0	.	GRCh38	chr9	21350587	21350587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgtctagaagcctctcatCccaagcaacagatgagtcct	11	11	7	12	0	2	3	1	1	2	2	5	3	4	3	3	0	3	1	3	0	4	2			C3N-00175_TP	C3N-00175_NB	C	C																c.301G>A	p.Asp101Asn	p.D101N	ENST00000380210	1/1	258	197	61	283	282	1	strelka-varscan-mutect	IFNA6,missense_variant,p.Asp101Asn,ENST00000380210,NM_021002.2;IFNA6,missense_variant,p.Asp102Asn,ENST00000259555,;	T	ENST00000380210	Transcript	missense_variant	792/1544	301/570	101/189	D/N	Gat/Aat	COSM4541538	1		-1	IFNA6	HGNC	HGNC:5427	protein_coding	YES	CCDS6504.1	ENSP00000369558	P05013		UPI000004775F	NM_021002.2	tolerated(1)		1/1		hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF27,Gene3D:1.20.1250.10,Pfam_domain:PF00143,SMART_domains:SM00076,Superfamily_domains:SSF47266,Prints_domain:PR00266											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	39	21350587	21350587	C	T	1	0	0	0	0	1	0	0	0	7441	855	30	3		3	IFNA6	9	21350587	Missense_Mutation	SNP	C	C3N-00175_TP	2292313	21350587	117044130	743	10893											
ELAVL2	0	.	GRCh38	chr9	23731126	23731126	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatatcccaagctctgccCtaatgaaaaggaaggggaaa	15	6	10	10	0	1	1	0	1	1	0	2	3	2	3	3	3	2	1	3	3	7	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.230-1G>T		p.X77_splice	ENST00000397312		103	76	27	120	120	0	strelka-varscan-mutect	ELAVL2,splice_acceptor_variant,,ENST00000397312,NM_004432.3;ELAVL2,splice_acceptor_variant,,ENST00000544538,;ELAVL2,splice_acceptor_variant,,ENST00000223951,NM_001171197.1,NM_001171195.1;ELAVL2,splice_acceptor_variant,,ENST00000380110,;ELAVL2,splice_acceptor_variant,,ENST00000380117,;ELAVL2,splice_acceptor_variant,,ENST00000423281,;ELAVL2,splice_acceptor_variant,,ENST00000440102,;	A	ENST00000397312	Transcript	splice_acceptor_variant	-/3805	230/1080	77/359				1		-1	ELAVL2	HGNC	HGNC:3313	protein_coding	YES	CCDS6515.1	ENSP00000380479	Q12926		UPI000013C83F	NM_004432.3				2/6																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	39	23731126	23731126	C	A	1	0	0	0	0	0	0	1	0	4883	695	24	2		2	ELAVL2	9	23731126	Splice_Site	SNP	C	C3N-00175_TP	2380539	23731126	114663591	744	10894											
TUSC1	0	.	GRCh38	chr9	25677924	25677924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttcgtgctggcctcttcaGggacccggcgtgcctccgcg	2	9	15	15	5	2	0	1	0	1	0	4	1	3	1	4	4	2	2	4	4	0	2	rs566749582		C3N-00175_TP	C3N-00175_NB	G	G																c.398C>A	p.Pro133His	p.P133H	ENST00000358022	1/1	341	217	124	429	429	0	strelka-varscan-mutect	TUSC1,missense_variant,p.Pro133His,ENST00000358022,NM_001004125.2;	T	ENST00000358022	Transcript	missense_variant	517/2052	398/639	133/212	P/H	cCt/cAt	rs566749582	1		-1	TUSC1	HGNC	HGNC:31010	protein_coding	YES	CCDS34999.1	ENSP00000350716	Q2TAM9		UPI0000161A7E	NM_001004125.2	deleterious(0)		1/1																			MODERATE	1	SNV				1										PASS		rs566749582	.												T	3	4	39	25677924	25677924	G	T	1	0	0	0	0	1	0	0	0	17288	1000	35	2		2	TUSC1	9	25677924	Missense_Mutation	SNP	G	C3N-00175_TP	1946798	25677924	112716793	745	10895											
TAF1L	0	.	GRCh38	chr9	32630976	32630976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaactgccatcattttctggGtgacaatgttgtccagaatg	10	13	10	8	0	2	2	1	1	1	1	3	3	3	2	2	1	2	1	2	1	3	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.4604C>T	p.Thr1535Ile	p.T1535I	ENST00000242310	1/1	325	236	89	345	345	0	strelka-varscan-mutect	TAF1L,missense_variant,p.Thr1535Ile,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;	A	ENST00000242310	Transcript	missense_variant	4694/6216	4604/5481	1535/1826	T/I	aCc/aTc		1		-1	TAF1L	HGNC	HGNC:18056	protein_coding	YES	CCDS35003.1	ENSP00000418379	Q8IZX4		UPI000007408A	NM_153809.2	deleterious(0.01)		1/1		Gene3D:1.20.920.10,Pfam_domain:PF00439,PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,SMART_domains:SM00297,Superfamily_domains:SSF47370																	MODERATE		SNV				1										PASS		.	.												A	3	1	39	32630976	32630976	G	A	1	0	0	0	0	1	0	0	0	15919	1261	44	3		3	TAF1L	9	32630976	Missense_Mutation	SNP	G	C3N-00175_TP	6953052	32630976	105763741	746	10896											
NOL6	0	.	GRCh38	chr9	33466971	33466971	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacatagtggacacaggtttCtgggatgtcagcatggctga	10	10	13	8	0	2	1	1	1	1	0	2	3	2	3	0	4	1	3	0	4	1	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1891G>C	p.Glu631Gln	p.E631Q	ENST00000297990	15/26	104	96	8	125	125	0	strelka-varscan-mutect	NOL6,missense_variant,p.Glu631Gln,ENST00000297990,NM_022917.4;NOL6,missense_variant,p.Glu631Gln,ENST00000379471,;NOL6,missense_variant,p.Glu631Gln,ENST00000353159,NM_139235.3;NOL6,upstream_gene_variant,,ENST00000379470,;MIR6851,downstream_gene_variant,,ENST00000617060,;NOL6,intron_variant,,ENST00000464829,;NOL6,downstream_gene_variant,,ENST00000496319,;	G	ENST00000297990	Transcript	missense_variant	1979/4741	1891/3441	631/1146	E/Q	Gaa/Caa		1		-1	NOL6	HGNC	HGNC:19910	protein_coding	YES	CCDS6543.1	ENSP00000297990	Q9H6R4		UPI0000050326	NM_022917.4	tolerated(0.27)		15/26		Pfam_domain:PF03813,hmmpanther:PTHR17972																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	33466971	33466971	C	G	1	0	0	0	0	1	0	0	0	10569	922	32	4		4	NOL6	9	33466971	Missense_Mutation	SNP	C	C3N-00175_TP	835995	33466971	104927746	747	10897											
DNAI1	0	.	GRCh38	chr9	34491513	34491513	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatcgagaatgccagacgGagcctcctcccaggacaaac	13	4	11	13	2	0	2	0	0	0	2	3	6	2	5	4	3	3	0	4	3	2	0			C3N-00175_TP	C3N-00175_NB	G	G																c.652G>T	p.Glu218Ter	p.E218*	ENST00000614641	8/20	421	311	110	506	506	0	strelka-varscan-mutect	DNAI1,stop_gained,p.Glu218Ter,ENST00000614641,NM_001281428.1;DNAI1,stop_gained,p.Glu214Ter,ENST00000242317,NM_012144.3;DNAI1,stop_gained,p.Glu203Ter,ENST00000437363,;DNAI1,non_coding_transcript_exon_variant,,ENST00000488369,;DNAI1,non_coding_transcript_exon_variant,,ENST00000488790,;DNAI1,downstream_gene_variant,,ENST00000470982,;	T	ENST00000614641	Transcript	stop_gained	906/2598	652/2112	218/703	E/*	Gag/Tag	COSM5603413	1		1	DNAI1	HGNC	HGNC:2954	protein_coding	YES	CCDS75829.1	ENSP00000480538		A0A087WWV9	UPI000382F365	NM_001281428.1			8/20		hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF11											1						HIGH	1	SNV	5		1	1										PASS		.	.												T	4	4	39	34491513	34491513	G	T	1	0	0	0	0	0	1	0	0	4424	1175	41	2		2	DNAI1	9	34491513	Nonsense_Mutation	SNP	G	C3N-00175_TP	1024542	34491513	103903204	748	10898											
RUSC2	0	.	GRCh38	chr9	35557958	35557958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtggacctcattgtggctCattttggcacaagccgggat	7	12	12	10	1	2	0	2	0	0	0	2	2	2	2	2	4	1	2	2	4	1	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3028C>T	p.His1010Tyr	p.H1010Y	ENST00000455600	6/12	195	176	19	219	219	0	strelka-varscan-mutect	RUSC2,missense_variant,p.His1010Tyr,ENST00000455600,NM_001135999.1;RUSC2,missense_variant,p.His1010Tyr,ENST00000361226,NM_014806.3;FAM166B,downstream_gene_variant,,ENST00000619051,NM_001287238.1,NM_001287239.1;FAM166B,downstream_gene_variant,,ENST00000399742,NM_001099951.3,NM_001164310.2;FAM166B,downstream_gene_variant,,ENST00000492890,;FAM166B,downstream_gene_variant,,ENST00000480287,;FAM166B,downstream_gene_variant,,ENST00000478246,;FAM166B,downstream_gene_variant,,ENST00000447837,;	T	ENST00000455600	Transcript	missense_variant	3597/5636	3028/4551	1010/1516	H/Y	Cat/Tat		1		1	RUSC2	HGNC	HGNC:23625	protein_coding	YES	CCDS35008.1	ENSP00000393922	Q8N2Y8		UPI00001C1EB0	NM_001135999.1	deleterious(0.04)		6/12		Superfamily_domains:0052343,hmmpanther:PTHR15591,hmmpanther:PTHR15591:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	35557958	35557958	C	T	1	0	0	0	0	1	0	0	0	14012	826	29	3		3	RUSC2	9	35557958	Missense_Mutation	SNP	C	C3N-00175_TP	1066445	35557958	102836759	749	10899											
OR2S2	0	.	GRCh38	chr9	35957189	35957189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcacagcagccttcaCatccttgttcctcaggctat	7	13	5	16	0	4	0	3	0	1	0	7	0	6	0	4	1	2	3	4	1	1	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.910G>T	p.Val304Leu	p.V304L	ENST00000341959	1/1	75	62	13	89	89	0	strelka-varscan-mutect	OR2S2,missense_variant,p.Val304Leu,ENST00000341959,NM_019897.2;	A	ENST00000341959	Transcript	missense_variant	966/1047	910/960	304/319	V/L	Gtg/Ttg		1		-1	OR2S2	HGNC	HGNC:8276	protein_coding	YES	CCDS6596.2	ENSP00000344040	Q9NQN1		UPI000003FF74	NM_019897.2	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF176,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	35957189	35957189	C	A	1	0	0	0	0	1	0	0	0	11093	478	17	2		2	OR2S2	9	35957189	Missense_Mutation	SNP	C	C3N-00175_TP	399231	35957189	102437528	750	10900											
FBXO10	0	.	GRCh38	chr9	37541522	37541522	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattcttggtccatgtctTggatgcaaggtaatgctgct	7	14	12	8	0	2	0	0	0	2	0	3	1	3	1	1	4	3	5	1	4	2	4			C3N-00175_TP	C3N-00175_NB	T	T																c.247A>G	p.Lys83Glu	p.K83E	ENST00000432825	2/11	306	267	39	366	366	0	strelka-varscan-mutect	FBXO10,missense_variant,p.Lys83Glu,ENST00000432825,NM_012166.2;FBXO10,downstream_gene_variant,,ENST00000541607,;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000544475,;RP11-613M10.8,intron_variant,,ENST00000541804,;FBXO10,missense_variant,p.Lys83Glu,ENST00000276960,;RP11-613M10.8,3_prime_UTR_variant,,ENST00000537239,;	C	ENST00000432825	Transcript	missense_variant	296/4575	247/2871	83/956	K/E	Aag/Gag	COSM4139374	1		-1	FBXO10	HGNC	HGNC:13589	protein_coding	YES	CCDS47966.1	ENSP00000403802	Q9UK96		UPI00001C1EC6	NM_012166.2	deleterious(0.01)		2/11		hmmpanther:PTHR22990:SF19,hmmpanther:PTHR22990,Gene3D:1.20.1280.50											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	39	37541522	37541522	T	C	1	0	0	0	0	1	0	0	0	5589	1821	63	5		5	FBXO10	9	37541522	Missense_Mutation	SNP	T	C3N-00175_TP	1584333	37541522	100853195	751	10901											
CNTNAP3B	0	.	GRCh38	chr9	41964561	41964561	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggcaggtctcgcccgtaTagcctgtgcctagacagtca	9	9	11	12	2	2	1	1	0	1	1	3	1	2	1	3	2	2	2	3	2	4	3			C3N-00175_TP	C3N-00175_NB	T	T																c.1733A>T	p.Tyr578Phe	p.Y578F	ENST00000377561	11/24	55	50	5	83	83	0	varscan-mutect	CNTNAP3B,missense_variant,p.Tyr578Phe,ENST00000612828,;CNTNAP3B,missense_variant,p.Tyr578Phe,ENST00000377561,NM_001201380.2;CNTNAP3B,missense_variant,p.Tyr578Phe,ENST00000341990,;CNTNAP3B,intron_variant,,ENST00000617422,;CNTNAP3B,upstream_gene_variant,,ENST00000491438,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000618777,;CNTNAP3B,intron_variant,,ENST00000619138,;CNTNAP3B,intron_variant,,ENST00000479351,;	A	ENST00000377561	Transcript	missense_variant	2126/5379	1733/3867	578/1288	Y/F	tAt/tTt	COSM1331537	1		-1	CNTNAP3B	HGNC	HGNC:32035	protein_coding	YES	CCDS75836.1	ENSP00000478671		A0A087WUH3	UPI00043788D3	NM_001201380.2	deleterious(0.02)		11/24		Gene3D:2.60.120.200,PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,SMART_domains:SM00181,Superfamily_domains:SSF56496,Superfamily_domains:SSF57196											1						MODERATE	1	SNV	1		1	1										PASS		rs1236403969	.												A	3	1	39	41964561	41964561	T	A	1	0	0	0	0	1	0	0	0	3430	1406	49	4		4	CNTNAP3B	9	41964561	Missense_Mutation	SNP	T	C3N-00175_TP	4423039	41964561	96430156	752	10902											
SPATA31A6	0	.	GRCh38	chr9	42186342	42186342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacacacccctgatcctCtggcctgctctccgcctcct	5	9	5	22	1	2	1	0	1	2	0	5	1	4	1	8	1	1	1	8	1	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.640C>A	p.Leu214Met	p.L214M	ENST00000332857	4/4	32	24	8	48	48	0	varscan-mutect	SPATA31A6,missense_variant,p.Leu214Met,ENST00000332857,NM_001145196.1;SPATA31A6,non_coding_transcript_exon_variant,,ENST00000496386,;	A	ENST00000332857	Transcript	missense_variant	669/4209	640/4032	214/1343	L/M	Ctg/Atg		1		1	SPATA31A6	HGNC	HGNC:32006	protein_coding	YES	CCDS75837.1	ENSP00000329825	Q5VVP1		UPI0000197F6E	NM_001145196.1	tolerated(0.26)		4/4		hmmpanther:PTHR21859:SF18,hmmpanther:PTHR21859																	MODERATE	1	SNV	5			1										PASS		rs1440671474	.												A	3	1	39	42186342	42186342	C	A	1	0	0	0	0	1	0	0	0	15345	912	32	2		2	SPATA31A6	9	42186342	Missense_Mutation	SNP	C	C3N-00175_TP	221781	42186342	96208375	753	10903											
SPATA31A7	0	.	GRCh38	chr9	61191467	61191467	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccagtgtccagtagggcgGaggcggaggcccagaggcag	8	4	18	11	2	0	1	0	0	0	1	2	3	2	3	3	6	0	2	3	6	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.204G>T	p.=	p.R68R	ENST00000619167	2/4	156	115	41	191	191	0	strelka-varscan-mutect	SPATA31A7,synonymous_variant,p.=,ENST00000619167,NM_015667.2;RP11-101E5.6,downstream_gene_variant,,ENST00000611332,;SPATA31A7,non_coding_transcript_exon_variant,,ENST00000619140,;SPATA31A7,non_coding_transcript_exon_variant,,ENST00000622751,;SPATA31A7,upstream_gene_variant,,ENST00000618860,;SPATA31A7,downstream_gene_variant,,ENST00000622899,;SPATA31A7,upstream_gene_variant,,ENST00000376458,;SPATA31A7,upstream_gene_variant,,ENST00000614013,;SPATA31A7,upstream_gene_variant,,ENST00000611017,;SPATA31A7,upstream_gene_variant,,ENST00000621711,;	T	ENST00000619167	Transcript	synonymous_variant	266/4256	204/4044	68/1347	R	cgG/cgT		1		1	SPATA31A7	HGNC	HGNC:32007	protein_coding	YES	CCDS75838.1	ENSP00000484807	Q8IWB4		UPI0000457748	NM_015667.2			2/4		Low_complexity_(Seg):seg,hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF22																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	61191467	61191467	G	T	1	0	0	0	0	0	0	0	1	15346	1161	41	2		2	SPATA31A7	9	61191467	Silent	SNP	G	C3N-00175_TP	19005125	61191467	77203250	754	10904											
PTAR1	0	.	GRCh38	chr9	69750940	69750940	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggacatgggatcaggcCaatttcatctcttaatatgt	11	14	8	8	0	4	0	3	0	1	0	5	2	4	2	1	3	0	0	1	3	3	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.97G>T	p.Gly33Cys	p.G33C	ENST00000340434	2/8	80	58	22	96	96	0	strelka-varscan-mutect	PTAR1,missense_variant,p.Gly33Cys,ENST00000340434,NM_001099666.1;PTAR1,intron_variant,,ENST00000377200,;PTAR1,non_coding_transcript_exon_variant,,ENST00000474925,;	A	ENST00000340434	Transcript	missense_variant	101/1417	97/1209	33/402	G/C	Ggc/Tgc		1		-1	PTAR1	HGNC	HGNC:30449	protein_coding	YES	CCDS47978.1	ENSP00000344299	Q7Z6K3		UPI00001D75C1	NM_001099666.1	deleterious(0)		2/8		hmmpanther:PTHR11129,hmmpanther:PTHR11129:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	69750940	69750940	C	A	1	0	0	0	0	1	0	0	0	12876	594	21	2		2	PTAR1	9	69750940	Missense_Mutation	SNP	C	C3N-00175_TP	8559473	69750940	68643777	755	10905											
TRPM6	0	.	GRCh38	chr9	74816952	74816952	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctcttcagagtcagcatCaaatatggtaatctacaaca	14	11	6	10	0	5	1	3	0	2	1	5	1	5	1	0	1	4	3	0	1	5	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1147G>C	p.Asp383His	p.D383H	ENST00000360774	10/39	287	214	73	409	409	0	strelka-varscan-mutect	TRPM6,missense_variant,p.Asp383His,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Asp378His,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Asp378His,ENST00000449912,NM_001177310.1;TRPM6,downstream_gene_variant,,ENST00000483186,;	G	ENST00000360774	Transcript	missense_variant	1385/8425	1147/6069	383/2022	D/H	Gat/Cat		1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4	tolerated(0.28)		10/39		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15																	MODERATE	1	SNV	1			1										PASS		rs749988479	.												G	3	3	39	74816952	74816952	C	G	1	0	0	0	0	1	0	0	0	17096	826	29	4		4	TRPM6	9	74816952	Missense_Mutation	SNP	C	C3N-00175_TP	5066012	74816952	63577765	756	10906											
PRUNE2	0	.	GRCh38	chr9	76706125	76706125	+	Missense_Mutation	SNP	G	G	T																															agttgccatgtaaaatatctGgcacaaaggtacctcgggag																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.6149C>A	p.Pro2050Gln	p.P2050Q	ENST00000376718	8/19	168	127	41	284	284	0	strelka-varscan-mutect	PRUNE2,missense_variant,p.Pro2050Gln,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Pro1691Gln,ENST00000428286,;PRUNE2,missense_variant,p.Pro2050Gln,ENST00000443509,NM_001308047.1,NM_001308048.1;PRUNE2,missense_variant,p.Pro1372Gln,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	T	ENST00000376718	Transcript	missense_variant	6273/12584	6149/9267	2050/3088	P/Q	cCa/cAa		1		-1	PRUNE2	HGNC	HGNC:25209	protein_coding	YES	CCDS47982.1	ENSP00000365908	Q8WUY3		UPI0001612CC0	NM_015225.2	deleterious(0)		8/19		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112																	MODERATE	1	SNV	5			1										PASS		rs1415681093	.												T	3	4	39	76706125	76706125	G	T	1	0	0	0	0	1	0	0	0	12791	1348	47	2		2	PRUNE2	9	76706125	Missense_Mutation	SNP	G	C3N-00175_TP	1889173	76706125	61688592	757	10907	248	2									
PRUNE2	0	.	GRCh38	chr9	76706126	76706126	+	Missense_Mutation	SNP	G	G	T																															gttgccatgtaaaatatctgGcacaaaggtacctcgggagt																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.6148C>A	p.Pro2050Thr	p.P2050T	ENST00000376718	8/19	169	128	41	284	284	0	strelka-varscan-mutect	PRUNE2,missense_variant,p.Pro2050Thr,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Pro1691Thr,ENST00000428286,;PRUNE2,missense_variant,p.Pro2050Thr,ENST00000443509,NM_001308047.1,NM_001308048.1;PRUNE2,missense_variant,p.Pro1372Thr,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	T	ENST00000376718	Transcript	missense_variant	6272/12584	6148/9267	2050/3088	P/T	Cca/Aca		1		-1	PRUNE2	HGNC	HGNC:25209	protein_coding	YES	CCDS47982.1	ENSP00000365908	Q8WUY3		UPI0001612CC0	NM_015225.2	deleterious(0)		8/19		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	76706126	76706126	G	T	1	0	0	0	0	1	0	0	0	12791	1203	42	2		2	PRUNE2	9	76706126	Missense_Mutation	SNP	G	C3N-00175_TP	1	76706126	61688591	758	10908	248	2									
ZCCHC6	0	.	GRCh38	chr9	86288722	86288722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgaggcttttccctgagtCatatatttactggaaaggct	9	14	10	8	0	1	2	1	2	0	0	2	3	2	3	1	3	1	3	1	3	4	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.4443G>A	p.Met1481Ile	p.M1481I	ENST00000375963	27/27	113	93	20	138	138	0	strelka-varscan-mutect	ZCCHC6,missense_variant,p.Met770Ile,ENST00000277141,;ZCCHC6,missense_variant,p.Met1481Ile,ENST00000375963,NM_024617.3,NM_001185059.1;ZCCHC6,missense_variant,p.Met1245Ile,ENST00000375960,NM_001185074.1;ZCCHC6,missense_variant,p.Met381Ile,ENST00000375957,;	T	ENST00000375963	Transcript	missense_variant	4616/5379	4443/4488	1481/1495	M/I	atG/atA		1		-1	ZCCHC6	HGNC	HGNC:25817	protein_coding	YES	CCDS35057.1	ENSP00000365130	Q5VYS8		UPI00004588F6	NM_024617.3,NM_001185059.1	deleterious_low_confidence(0.01)		27/27		hmmpanther:PTHR12271:SF34,hmmpanther:PTHR12271																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	86288722	86288722	C	T	1	0	0	0	0	1	0	0	0	18167	826	29	3		3	ZCCHC6	9	86288722	Missense_Mutation	SNP	C	C3N-00175_TP	9582596	86288722	52105995	759	10909											
CTSL	0	.	GRCh38	chr9	87728857	87728857	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctcagcttttggaaggtgGacactttaagagataacaga	14	10	11	6	0	1	2	1	0	0	2	1	5	1	4	0	3	3	2	0	3	3	5	rs775431226		C3N-00175_TP	C3N-00175_NB	G	G																c.669G>A	p.Trp223Ter	p.W223*	ENST00000342020	5/5	93	84	9	136	136	0	strelka-varscan-mutect	CTSL,stop_gained,p.Trp223Ter,ENST00000342020,;CTSL,intron_variant,,ENST00000343150,;CTSL,intron_variant,,ENST00000340342,NM_001257972.1,NM_001257971.1,NM_001912.4,NM_145918.2;CTSL,intron_variant,,ENST00000495822,;CTSL,intron_variant,,ENST00000375894,;CTSL,intron_variant,,ENST00000482054,;	A	ENST00000342020	Transcript	stop_gained	793/933	669/678	223/225	W/*	tgG/tgA	rs775431226	1		1	CTSL	HGNC	HGNC:2537	protein_coding			ENSP00000340470		Q5T8F0	UPI000046FE25				5/5		SMART_domains:SM00645																	HIGH		SNV	2			1										PASS		rs775431226	.												A	4	1	39	87728857	87728857	G	A	1	0	0	0	0	0	1	0	0	3847	1183	41	3		3	CTSL	9	87728857	Nonsense_Mutation	SNP	G	C3N-00175_TP	1440135	87728857	50665860	760	10910											
SYK	0	.	GRCh38	chr9	90845439	90845439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctccatgtggcagggtcaGgctctggagcaggccatcat	7	9	13	12	0	4	0	2	0	2	0	5	1	4	1	2	5	1	3	2	5	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.423G>T	p.Gln141His	p.Q141H	ENST00000375754	3/14	68	46	22	84	84	0	varscan-mutect	SYK,missense_variant,p.Gln141His,ENST00000375754,NM_003177.6;SYK,missense_variant,p.Gln141His,ENST00000375746,NM_001174167.2;SYK,missense_variant,p.Gln141His,ENST00000375751,NM_001135052.3;SYK,missense_variant,p.Gln141His,ENST00000375747,NM_001174168.2;SYK,downstream_gene_variant,,ENST00000476708,;	T	ENST00000375754	Transcript	missense_variant	571/5005	423/1908	141/635	Q/H	caG/caT		1		1	SYK	HGNC	HGNC:11491	protein_coding	YES	CCDS6688.1	ENSP00000364907	P43405	A0A024R244	UPI000012E0DD	NM_003177.6	tolerated(0.31)		3/14		Gene3D:2oq1A02,PIRSF_domain:PIRSF000604																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	90845439	90845439	G	T	1	0	0	0	0	1	0	0	0	15828	1014	35	2		2	SYK	9	90845439	Missense_Mutation	SNP	G	C3N-00175_TP	3116582	90845439	47549278	761	10911											
SYK	0	.	GRCh38	chr9	90845452	90845452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggtcaggctctggagcagGccatcatcagtcagaagcct	10	7	13	11	0	5	1	4	0	1	1	5	2	5	2	2	4	2	2	2	4	1	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.436G>T	p.Ala146Ser	p.A146S	ENST00000375754	3/14	77	50	27	102	102	0	varscan-mutect	SYK,missense_variant,p.Ala146Ser,ENST00000375754,NM_003177.6;SYK,missense_variant,p.Ala146Ser,ENST00000375746,NM_001174167.2;SYK,missense_variant,p.Ala146Ser,ENST00000375751,NM_001135052.3;SYK,missense_variant,p.Ala146Ser,ENST00000375747,NM_001174168.2;SYK,downstream_gene_variant,,ENST00000476708,;	T	ENST00000375754	Transcript	missense_variant	584/5005	436/1908	146/635	A/S	Gcc/Tcc		1		1	SYK	HGNC	HGNC:11491	protein_coding	YES	CCDS6688.1	ENSP00000364907	P43405	A0A024R244	UPI000012E0DD	NM_003177.6	deleterious(0.02)		3/14		Gene3D:2oq1A02,PIRSF_domain:PIRSF000604																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	90845452	90845452	G	T	1	0	0	0	0	1	0	0	0	15828	1203	42	2		2	SYK	9	90845452	Missense_Mutation	SNP	G	C3N-00175_TP	13	90845452	47549265	762	10912											
MFSD14B	0	.	GRCh38	chr9	94415165	94415165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttcttttttagctacaagGctttggccgaccaagtgtgt	7	16	9	9	1	1	0	0	0	1	0	1	1	1	0	2	2	2	2	2	2	4	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.116G>A	p.Gly39Asp	p.G39D	ENST00000375344	2/12	243	149	94	199	199	0	strelka-varscan-mutect	MFSD14B,missense_variant,p.Gly39Asp,ENST00000375344,NM_032558.2;	A	ENST00000375344	Transcript	missense_variant	385/3420	116/1521	39/506	G/D	gGc/gAc		1		1	MFSD14B	HGNC	HGNC:23376	protein_coding	YES	CCDS6710.2	ENSP00000364493	Q5SR56		UPI000046FF5D	NM_032558.2	deleterious(0)		2/12		hmmpanther:PTHR23504:SF32,hmmpanther:PTHR23504																	MODERATE	1	SNV	1			1										PASS		rs1311831052	.												A	3	1	39	94415165	94415165	G	A	1	0	0	0	0	1	0	0	0	9485	1203	42	3		3	MFSD14B	9	94415165	Missense_Mutation	SNP	G	C3N-00175_TP	3569713	94415165	43979552	763	10913											
GABBR2	0	.	GRCh38	chr9	98708518	98708518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggggagcacaccgcgccCgatgctgcccttggccacct	5	5	14	17	4	0	0	0	0	0	0	0	2	0	1	5	4	3	2	5	4	0	1	rs868629786		C3N-00175_TP	C3N-00175_NB	C	C																c.220G>A	p.Gly74Arg	p.G74R	ENST00000259455	1/19	115	73	42	128	127	1	strelka-varscan-mutect	GABBR2,missense_variant,p.Gly74Arg,ENST00000259455,NM_005458.7;GABBR2,upstream_gene_variant,,ENST00000637717,;	T	ENST00000259455	Transcript	missense_variant	680/5788	220/2826	74/941	G/R	Ggg/Agg	rs868629786	1		-1	GABBR2	HGNC	HGNC:4507	protein_coding	YES	CCDS6736.1	ENSP00000259455	O75899	H9NIL8	UPI0000035832	NM_005458.7	deleterious(0.01)		1/19		Gene3D:3.40.50.2300,Prints_domain:PR01176,Prints_domain:PR01178,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF40,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		rs868629786	.												T	3	4	39	98708518	98708518	C	T	1	0	0	0	0	1	0	0	0	6027	652	23	1		1	GABBR2	9	98708518	Missense_Mutation	SNP	C	C3N-00175_TP	4293353	98708518	39686199	764	10914											
GRIN3A	0	.	GRCh38	chr9	101670497	101670497	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaatctatcacctggcTccgtgcagtattgatgctaa	10	12	10	9	1	2	2	1	2	1	0	3	2	3	2	2	2	2	4	2	2	4	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1915A>T	p.Ser639Cys	p.S639C	ENST00000361820	3/9	349	215	134	435	435	0	strelka-varscan-mutect	GRIN3A,missense_variant,p.Ser639Cys,ENST00000361820,NM_133445.2;	A	ENST00000361820	Transcript	missense_variant	2516/7770	1915/3348	639/1115	S/C	Agc/Tgc		1		-1	GRIN3A	HGNC	HGNC:16767	protein_coding	YES	CCDS6758.1	ENSP00000355155	Q8TCU5		UPI0000367661	NM_133445.2	deleterious(0.01)		3/9		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154,Gene3D:3.40.190.10,Pfam_domain:PF10613,SMART_domains:SM00079,Superfamily_domains:SSF53850																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	101670497	101670497	T	A	1	0	0	0	0	1	0	0	0	6665	1551	54	4		4	GRIN3A	9	101670497	Missense_Mutation	SNP	T	C3N-00175_TP	2961979	101670497	36724220	765	10915											
SVEP1	0	.	GRCh38	chr9	110386031	110386031	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaactccttttcagacagCagagcattctcgggaatcac	13	10	7	11	1	3	2	2	0	1	2	5	3	4	3	1	1	3	2	1	1	3	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.10104G>T	p.=	p.L3368L	ENST00000374469	43/48	106	61	45	152	152	0	strelka-varscan-mutect	SVEP1,synonymous_variant,p.=,ENST00000401783,;SVEP1,synonymous_variant,p.=,ENST00000374469,NM_153366.3;	A	ENST00000374469	Transcript	synonymous_variant	10299/12194	10104/10716	3368/3571	L	ctG/ctT		1		-1	SVEP1	HGNC	HGNC:15985	protein_coding	YES	CCDS48004.1	ENSP00000363593	Q4LDE5		UPI000153DA74	NM_153366.3			43/48		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	39	110386031	110386031	C	A	1	0	0	0	0	0	0	0	1	15805	697	25	2		2	SVEP1	9	110386031	Silent	SNP	C	C3N-00175_TP	8715534	110386031	28008686	766	10916											
SVEP1	0	.	GRCh38	chr9	110512951	110512951	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtagctctctgaaccggaCcacaaaccattgggtagaca	13	7	9	12	1	1	2	0	1	1	1	2	3	1	3	3	2	3	3	3	2	4	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1278G>C	p.Trp426Cys	p.W426C	ENST00000374469	5/48	347	215	132	337	337	0	strelka-varscan-mutect	SVEP1,missense_variant,p.Trp426Cys,ENST00000401783,;SVEP1,missense_variant,p.Trp426Cys,ENST00000374469,NM_153366.3;SVEP1,missense_variant,p.Trp426Cys,ENST00000374461,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;	G	ENST00000374469	Transcript	missense_variant	1473/12194	1278/10716	426/3571	W/C	tgG/tgC		1		-1	SVEP1	HGNC	HGNC:15985	protein_coding	YES	CCDS48004.1	ENSP00000363593	Q4LDE5		UPI000153DA74	NM_153366.3	deleterious(0)		5/48		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57184,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	39	110512951	110512951	C	G	1	0	0	0	0	1	0	0	0	15805	508	18	4		4	SVEP1	9	110512951	Missense_Mutation	SNP	C	C3N-00175_TP	126920	110512951	27881766	767	10917											
TLR4	0	.	GRCh38	chr9	117708723	117708723	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaactgcaggtgctggattTatccaggtaatgaatccact	12	11	10	8	0	0	2	0	1	0	1	2	3	2	3	2	3	3	3	2	3	4	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.254T>A	p.Leu85Ter	p.L85*	ENST00000355622	2/3	163	102	61	193	193	0	strelka-varscan-mutect	TLR4,stop_gained,p.Leu85Ter,ENST00000355622,NM_138554.4;TLR4,stop_gained,p.Leu45Ter,ENST00000394487,NM_003266.3;RNU6-1082P,upstream_gene_variant,,ENST00000364574,;TLR4,non_coding_transcript_exon_variant,,ENST00000490685,;TLR4,intron_variant,,ENST00000472304,;	A	ENST00000355622	Transcript	stop_gained	355/4844	254/2520	85/839	L/*	tTa/tAa		1		1	TLR4	HGNC	HGNC:11850	protein_coding	YES	CCDS6818.1	ENSP00000363089	O00206		UPI0000137057	NM_138554.4			2/3		PROSITE_profiles:PS51450,hmmpanther:PTHR24365:SF230,hmmpanther:PTHR24365,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52047																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	117708723	117708723	T	A	1	0	0	0	0	0	1	0	0	16399	1764	61	4		4	TLR4	9	117708723	Nonsense_Mutation	SNP	T	C3N-00175_TP	7195772	117708723	20685994	768	10918											
HMCN2	0	.	GRCh38	chr9	130407636	130407636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctccagagaagacagcGggacctatgtctgctgggcg	8	8	14	11	2	2	2	0	0	2	2	3	4	2	3	2	2	2	1	2	2	2	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.12559G>T	p.Gly4187Trp	p.G4187W	ENST00000624552	83/98	114	67	47	121	121	0	strelka-varscan-mutect	HMCN2,missense_variant,p.Gly4187Trp,ENST00000624552,NM_001291815.1;HMCN2,3_prime_UTR_variant,,ENST00000487727,;HMCN2,downstream_gene_variant,,ENST00000480829,;	T	ENST00000624552	Transcript	missense_variant	12559/15610	12559/15180	4187/5059	G/W	Ggg/Tgg		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	deleterious(0)		83/98		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs916561028	.												T	3	4	39	130407636	130407636	G	T	1	0	0	0	0	1	0	0	0	7112	1116	39	1		1	HMCN2	9	130407636	Missense_Mutation	SNP	G	C3N-00175_TP	12698913	130407636	7987081	769	10919											
NUP214	0	.	GRCh38	chr9	131215334	131215334	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaaacccattcagctcGgccagtgggggctttggatc	11	8	11	11	1	1	0	1	0	0	0	3	1	1	1	2	4	3	2	2	4	3	2	rs757729764		C3N-00175_TP	C3N-00175_NB	G	G																c.5715G>T	p.=	p.S1905S	ENST00000359428	31/36	78	40	38	94	94	0	strelka-varscan-mutect	NUP214,synonymous_variant,p.=,ENST00000359428,NM_005085.3;NUP214,synonymous_variant,p.=,ENST00000411637,NM_001318324.1;NUP214,synonymous_variant,p.=,ENST00000451030,;NUP214,synonymous_variant,p.=,ENST00000483497,;NUP214,synonymous_variant,p.=,ENST00000453861,;	T	ENST00000359428	Transcript	synonymous_variant	5859/7600	5715/6273	1905/2090	S	tcG/tcT	rs757729764	1		1	NUP214	HGNC	HGNC:8064	protein_coding	YES	CCDS6940.1	ENSP00000352400	P35658		UPI00001BBB2F	NM_005085.3			31/36		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF21,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs757729764	.												T	2	4	39	131215334	131215334	G	T	1	0	0	0	0	0	0	0	1	10827	1103	39	1		1	NUP214	9	131215334	Silent	SNP	G	C3N-00175_TP	807698	131215334	7179383	770	10920											
NTNG2	0	.	GRCh38	chr9	132240981	132240981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcttctgcgagtgccgcgagGgcgcggcgggccccaagtgc	4	5	18	14	6	1	0	0	0	1	0	1	2	1	0	3	3	3	1	3	3	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1294G>T	p.Gly432Cys	p.G432C	ENST00000393229	7/8	247	138	109	312	312	0	strelka-varscan-mutect	NTNG2,missense_variant,p.Gly432Cys,ENST00000393229,NM_032536.2;NTNG2,non_coding_transcript_exon_variant,,ENST00000490694,;NTNG2,upstream_gene_variant,,ENST00000483055,;	T	ENST00000393229	Transcript	missense_variant	2070/4792	1294/1593	432/530	G/C	Ggc/Tgc		1		1	NTNG2	HGNC	HGNC:14288	protein_coding	YES	CCDS6946.1	ENSP00000376921	Q96CW9		UPI0000367698	NM_032536.2	deleterious(0)		7/8		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS00022,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,SMART_domains:SM00180,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	132240981	132240981	G	T	1	0	0	0	0	1	0	0	0	10770	1232	43	2		2	NTNG2	9	132240981	Missense_Mutation	SNP	G	C3N-00175_TP	1025647	132240981	6153736	771	10921											
CAMSAP1	0	.	GRCh38	chr9	135821227	135821227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtccaggccagggtccgtgGgcgtccgagggtggctgctg	3	8	19	11	3	0	0	0	0	0	0	3	1	3	0	4	5	1	2	4	5	0	0			C3N-00175_TP	C3N-00175_NB	G	G																c.3434C>T	p.Pro1145Leu	p.P1145L	ENST00000389532	11/17	72	39	33	125	125	0	strelka-varscan-mutect	CAMSAP1,missense_variant,p.Pro1145Leu,ENST00000389532,NM_015447.3;CAMSAP1,missense_variant,p.Pro867Leu,ENST00000312405,;CAMSAP1,missense_variant,p.Pro1156Leu,ENST00000409386,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000483991,;CAMSAP1,upstream_gene_variant,,ENST00000493088,;CAMSAP1,upstream_gene_variant,,ENST00000482664,;CAMSAP1,upstream_gene_variant,,ENST00000487868,;	A	ENST00000389532	Transcript	missense_variant	3499/7696	3434/4809	1145/1602	P/L	cCc/cTc	COSM1461013,COSM4784554	1		-1	CAMSAP1	HGNC	HGNC:19946	protein_coding	YES	CCDS35176.2	ENSP00000374183	Q5T5Y3		UPI0000EDA283	NM_015447.3	deleterious(0.04)		11/17		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF3											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	39	135821227	135821227	G	A	1	0	0	0	0	1	0	0	0	2303	1232	43	3		3	CAMSAP1	9	135821227	Missense_Mutation	SNP	G	C3N-00175_TP	3580246	135821227	2573490	772	10922											
AKR1C3	0	.	GRCh38	chr10	5094529	5094529	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcacctatgcacctccagagGtaagaataattccttttagt	12	12	7	10	0	0	2	0	0	0	2	2	2	2	2	4	1	1	3	4	1	5	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.84+1G>A		p.X28_splice	ENST00000380554		233	157	76	233	233	0	strelka-varscan-mutect	AKR1C3,splice_donor_variant,,ENST00000380554,NM_003739.5;AKR1C3,intron_variant,,ENST00000605149,;AKR1C3,intron_variant,,ENST00000439082,NM_001253908.1;AKR1C3,intron_variant,,ENST00000602997,;U8,upstream_gene_variant,,ENST00000459536,;AKR1C3,intron_variant,,ENST00000470862,;AKR1C3,intron_variant,,ENST00000605781,;AKR1C3,intron_variant,,ENST00000480822,;AKR1C3,splice_donor_variant,,ENST00000480697,;AKR1C3,splice_donor_variant,,ENST00000605322,;AKR1C3,upstream_gene_variant,,ENST00000603312,;	A	ENST00000380554	Transcript	splice_donor_variant	-/1807	84/972	28/323				1		1	AKR1C3	HGNC	HGNC:386	protein_coding	YES	CCDS7063.1	ENSP00000369927	P42330		UPI0000140951	NM_003739.5				1/8																		HIGH	1	SNV	1			1										PASS		rs994272041	.												A	5	1	39	5094529	5094529	G	A	1	0	0	0	0	0	0	1	0	555	1275	44	3		3	AKR1C3	10	5094529	Splice_Site	SNP	G	C3N-00175_TP		5094529	128702893	773	10923											
SFMBT2	0	.	GRCh38	chr10	7163881	7163881	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcaccgtcggaagggtCagaagcaggagtgcttggcc	8	7	15	11	2	1	1	1	0	0	1	3	3	2	3	3	4	3	3	3	4	2	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2574G>T	p.=	p.L858L	ENST00000397167	21/21	132	100	32	131	131	0	strelka-varscan-mutect	SFMBT2,synonymous_variant,p.=,ENST00000397167,NM_001029880.2;SFMBT2,synonymous_variant,p.=,ENST00000361972,NM_001018039.1;	A	ENST00000397167	Transcript	synonymous_variant	2767/8024	2574/2685	858/894	L	ctG/ctT		1		-1	SFMBT2	HGNC	HGNC:20256	protein_coding	YES	CCDS31138.1	ENSP00000380353	Q5VUG0		UPI00001C1EDF	NM_001029880.2			21/21		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62,Pfam_domain:PF00536,Gene3D:1.10.150.50,SMART_domains:SM00454,Superfamily_domains:SSF47769																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	39	7163881	7163881	C	A	1	0	0	0	0	0	0	0	1	14436	813	29	2		2	SFMBT2	10	7163881	Silent	SNP	C	C3N-00175_TP	2069352	7163881	126633541	774	10924											
ITIH5	0	.	GRCh38	chr10	7576789	7576789	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccctgccttctgaggccGcacaggcacatctgtcttca	6	12	8	15	1	4	1	1	1	3	0	5	1	5	1	3	2	1	2	3	2	0	3	rs547413516		C3N-00175_TP	C3N-00175_NB	G	G																c.1642C>A	p.=	p.R548R	ENST00000397146	10/14	154	124	30	183	183	0	strelka-varscan-mutect	ITIH5,synonymous_variant,p.=,ENST00000397146,NM_030569.6;ITIH5,synonymous_variant,p.=,ENST00000397145,NM_001001851.2;ITIH5,synonymous_variant,p.=,ENST00000613909,NM_032817.5;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;ITIH5,non_coding_transcript_exon_variant,,ENST00000476417,;ITIH5,non_coding_transcript_exon_variant,,ENST00000468389,;ITIH5,downstream_gene_variant,,ENST00000461751,;ITIH5,upstream_gene_variant,,ENST00000492668,;	T	ENST00000397146	Transcript	synonymous_variant	1721/6721	1642/2829	548/942	R	Cgg/Agg	rs547413516,COSM5566377,COSM5566378	1		-1	ITIH5	HGNC	HGNC:21449	protein_coding	YES		ENSP00000380333		C9J2H1	UPI000014D02E	NM_030569.6			10/14		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF62											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs547413516	.												T	2	4	39	7576789	7576789	G	T	1	0	0	0	0	0	0	0	1	7813	1086	38	1		1	ITIH5	10	7576789	Silent	SNP	G	C3N-00175_TP	412908	7576789	126220633	775	10925											
ITIH5	0	.	GRCh38	chr10	7576804	7576804	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgcacaggcacatctgTcttcaggatgatgaatttct	10	11	10	10	1	4	2	1	2	3	0	4	3	4	3	1	3	0	2	1	3	1	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1627A>T	p.Thr543Ser	p.T543S	ENST00000397146	10/14	161	132	29	176	175	1	strelka-varscan-mutect	ITIH5,missense_variant,p.Thr543Ser,ENST00000397146,NM_030569.6;ITIH5,missense_variant,p.Thr543Ser,ENST00000397145,NM_001001851.2;ITIH5,missense_variant,p.Thr329Ser,ENST00000613909,NM_032817.5;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;ITIH5,non_coding_transcript_exon_variant,,ENST00000476417,;ITIH5,non_coding_transcript_exon_variant,,ENST00000468389,;ITIH5,downstream_gene_variant,,ENST00000461751,;ITIH5,upstream_gene_variant,,ENST00000492668,;	A	ENST00000397146	Transcript	missense_variant	1706/6721	1627/2829	543/942	T/S	Aca/Tca		1		-1	ITIH5	HGNC	HGNC:21449	protein_coding	YES		ENSP00000380333		C9J2H1	UPI000014D02E	NM_030569.6	tolerated(0.05)		10/14		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF62																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	7576804	7576804	T	A	1	0	0	0	0	1	0	0	0	7813	1667	58	4		4	ITIH5	10	7576804	Missense_Mutation	SNP	T	C3N-00175_TP	15	7576804	126220618	776	10926											
ITIH2	0	.	GRCh38	chr10	7709081	7709081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagtctactattacttctcgGatggccaccaccatgatcca	10	11	6	14	1	2	1	0	1	2	0	4	2	3	2	4	2	2	0	4	2	3	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.252G>A	p.=	p.R84R	ENST00000358415	4/21	268	181	87	236	236	0	strelka-varscan-mutect	ITIH2,synonymous_variant,p.=,ENST00000358415,NM_002216.2;ITIH2,synonymous_variant,p.=,ENST00000379587,;ITIH2,synonymous_variant,p.=,ENST00000429820,;ITIH2,intron_variant,,ENST00000480387,;ITIH2,non_coding_transcript_exon_variant,,ENST00000473227,;	A	ENST00000358415	Transcript	synonymous_variant	418/3193	252/2841	84/946	R	cgG/cgA		1		1	ITIH2	HGNC	HGNC:6167	protein_coding	YES	CCDS31141.1	ENSP00000351190	P19823		UPI000036665E	NM_002216.2			4/21		PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF14,Pfam_domain:PF08487,SMART_domains:SM00609																	LOW	1	SNV	1			1										PASS		rs1267311185	.												A	2	1	39	7709081	7709081	G	A	1	0	0	0	0	0	0	0	1	7810	1161	41	3		3	ITIH2	10	7709081	Silent	SNP	G	C3N-00175_TP	132277	7709081	126088341	777	10927											
UPF2	0	.	GRCh38	chr10	12001691	12001691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaccttgttcatcaagaaGtttctttgtaagatcttcag	10	18	6	7	0	5	2	3	0	2	2	5	2	5	2	1	0	1	3	1	0	4	8	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1639C>T	p.Leu547Phe	p.L547F	ENST00000356352	5/21	44	36	8	67	67	0	strelka-varscan-mutect	UPF2,missense_variant,p.Leu547Phe,ENST00000356352,;UPF2,missense_variant,p.Leu547Phe,ENST00000397053,NM_080599.2;UPF2,missense_variant,p.Leu547Phe,ENST00000357604,NM_015542.3;	A	ENST00000356352	Transcript	missense_variant	2113/5569	1639/3819	547/1272	L/F	Ctt/Ttt		1		-1	UPF2	HGNC	HGNC:17854	protein_coding	YES	CCDS7086.1	ENSP00000348708	Q9HAU5		UPI0000070D5E		tolerated(0.26)		5/21		hmmpanther:PTHR12839,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	12001691	12001691	G	A	1	0	0	0	0	1	0	0	0	17530	1029	36	3		3	UPF2	10	12001691	Missense_Mutation	SNP	G	C3N-00175_TP	4292610	12001691	121795731	778	10928											
CDC123	0	.	GRCh38	chr10	12215796	12215796	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagctatcaattccctcggGggcagtgtctttcctaagct	8	12	10	11	1	2	0	1	0	1	0	5	1	4	0	2	2	2	3	2	2	4	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.294G>T	p.=	p.G98G	ENST00000281141	5/13	134	92	42	101	101	0	strelka-varscan-mutect	CDC123,synonymous_variant,p.=,ENST00000281141,NM_006023.2;CDC123,synonymous_variant,p.=,ENST00000378900,;CDC123,synonymous_variant,p.=,ENST00000429258,;CDC123,intron_variant,,ENST00000442050,;CDC123,non_coding_transcript_exon_variant,,ENST00000455773,;CDC123,upstream_gene_variant,,ENST00000498747,;	T	ENST00000281141	Transcript	synonymous_variant	574/1542	294/1011	98/336	G	ggG/ggT		1		1	CDC123	HGNC	HGNC:16827	protein_coding	YES	CCDS7090.1	ENSP00000281141	O75794		UPI000006FE36	NM_006023.2			5/13		hmmpanther:PTHR15323:SF6,hmmpanther:PTHR15323,PIRSF_domain:PIRSF007807,Pfam_domain:PF07065																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	12215796	12215796	G	T	1	0	0	0	0	0	0	0	1	2758	1219	43	2		2	CDC123	10	12215796	Silent	SNP	G	C3N-00175_TP	214105	12215796	121581626	779	10929											
MCM10	0	.	GRCh38	chr10	13195228	13195228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttttatgatgagtcaccaCcaccaagaccaaaactgagt	14	10	6	11	0	2	4	1	3	1	1	2	4	2	4	4	0	1	0	4	0	4	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1936C>T	p.Pro646Ser	p.P646S	ENST00000484800	14/20	184	133	51	178	177	1	strelka-varscan-mutect	MCM10,missense_variant,p.Pro645Ser,ENST00000378694,;MCM10,missense_variant,p.Pro645Ser,ENST00000378714,NM_018518.4;MCM10,missense_variant,p.Pro646Ser,ENST00000484800,NM_182751.2;MCM10,non_coding_transcript_exon_variant,,ENST00000481292,;MCM10,non_coding_transcript_exon_variant,,ENST00000459751,;MCM10,upstream_gene_variant,,ENST00000485659,;	T	ENST00000484800	Transcript	missense_variant	2039/3157	1936/2628	646/875	P/S	Cca/Tca		1		1	MCM10	HGNC	HGNC:18043	protein_coding	YES	CCDS7096.1	ENSP00000418268	Q7L590		UPI000013C5E2	NM_182751.2	deleterious(0.05)		14/20		Pfam_domain:PF09332,hmmpanther:PTHR13454,SMART_domains:SM01280																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	13195228	13195228	C	T	1	0	0	0	0	1	0	0	0	9317	507	18	3		3	MCM10	10	13195228	Missense_Mutation	SNP	C	C3N-00175_TP	979432	13195228	120602194	780	10930											
FAM171A1	0	.	GRCh38	chr10	15213491	15213491	+	Frame_Shift_Del	DEL	C	C	-																															cgggggtgcggaagcggcttCccacccccaagctccatcag																								rs780775876		C3N-00175_TP	C3N-00175_NB	C	C																c.2097delG	p.Lys700SerfsTer45	p.K700Sfs*45	ENST00000378116	8/8	236	202	34	264	264	0	sindel-varindel	FAM171A1,frameshift_variant,p.Lys700SerfsTer45,ENST00000378116,NM_001010924.1;FAM171A1,downstream_gene_variant,,ENST00000477161,;	-	ENST00000378116	Transcript	frameshift_variant	2104/3952	2097/2673	699/890	G/X	ggG/gg	rs780775876	1		-1	FAM171A1	HGNC	HGNC:23522	protein_coding	YES	CCDS31154.1	ENSP00000367356	Q5VUB5		UPI00001414CA	NM_001010924.1			8/8		hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF1,Pfam_domain:PF10577																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	39	15213491	15213491	C	-	1	0	1	0	1	0	0	0	0	5337	842	30	0		0	FAM171A1	10	15213491	Frame_Shift_Del	DEL	C	C3N-00175_TP	2018263	15213491	118583931	781	10931											
ITGA8	0	.	GRCh38	chr10	15586657	15586657	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctgtctggattgtcctTgttggaactaaaacacaagg	11	13	10	7	0	1	0	0	0	1	0	2	2	2	2	1	3	3	2	1	3	4	5	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.2299A>C	p.Lys767Gln	p.K767Q	ENST00000378076	23/30	159	89	70	147	147	0	strelka-varscan-mutect	ITGA8,missense_variant,p.Lys767Gln,ENST00000378076,NM_003638.2,NM_001291494.1;	G	ENST00000378076	Transcript	missense_variant	2653/6755	2299/3192	767/1063	K/Q	Aag/Cag		1		-1	ITGA8	HGNC	HGNC:6144	protein_coding	YES	CCDS31155.1	ENSP00000367316	P53708		UPI00001D80A0	NM_003638.2,NM_001291494.1	tolerated(0.62)		23/30		Gene3D:2.60.40.1510,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	15586657	15586657	T	G	1	0	0	0	0	1	0	0	0	7789	1821	63	5		5	ITGA8	10	15586657	Missense_Mutation	SNP	T	C3N-00175_TP	373166	15586657	118210765	782	10932											
PTER	0	.	GRCh38	chr10	16484542	16484542	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttccaaagaacctatcgTgatgaaaaatttatattgga	16	14	6	5	1	0	3	0	2	0	1	2	4	1	4	2	1	1	0	2	1	8	7	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.158T>G	p.Val53Gly	p.V53G	ENST00000378000	3/6	296	202	94	276	276	0	strelka-varscan-mutect	PTER,missense_variant,p.Val53Gly,ENST00000378000,NM_001001484.2;PTER,missense_variant,p.Val53Gly,ENST00000298942,NM_001261837.1;PTER,missense_variant,p.Val53Gly,ENST00000535784,NM_001261836.1,NM_030664.4;PTER,intron_variant,,ENST00000423462,NM_001261838.1;PTER,upstream_gene_variant,,ENST00000485788,;	G	ENST00000378000	Transcript	missense_variant	404/3777	158/1050	53/349	V/G	gTg/gGg		1		1	PTER	HGNC	HGNC:9590	protein_coding	YES	CCDS7111.1	ENSP00000367239	Q96BW5		UPI00000492E9	NM_001001484.2	tolerated(0.25)		3/6		Gene3D:3.20.20.140,Pfam_domain:PF02126,PROSITE_profiles:PS51347,hmmpanther:PTHR10819,hmmpanther:PTHR10819:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	16484542	16484542	T	G	1	0	0	0	0	1	0	0	0	12892	1696	59	5		5	PTER	10	16484542	Missense_Mutation	SNP	T	C3N-00175_TP	897885	16484542	117312880	783	10933											
MRC1	0	.	GRCh38	chr10	17894263	17894263	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagcaggaaaatggatGgatgatacctgcgacagtaa	17	7	12	5	1	0	2	0	2	0	0	0	6	0	5	1	3	3	2	1	3	6	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.3201G>C	p.Met1067Ile	p.M1067I	ENST00000569591	23/30	419	362	57	409	409	0	strelka-varscan-mutect	MRC1,missense_variant,p.Met1067Ile,ENST00000569591,NM_002438.3;	C	ENST00000569591	Transcript	missense_variant	3323/5198	3201/4371	1067/1456	M/I	atG/atC		1		1	MRC1	HGNC	HGNC:7228	protein_coding	YES	CCDS7123.2	ENSP00000455897	P22897		UPI000012EB9A	NM_002438.3	tolerated(0.07)		23/30		PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF73,PROSITE_patterns:PS00615,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	17894263	17894263	G	C	1	0	0	0	0	1	0	0	0	9722	1348	47	4		4	MRC1	10	17894263	Missense_Mutation	SNP	G	C3N-00175_TP	1409721	17894263	115903159	784	10934											
MRC1	0	.	GRCh38	chr10	17910311	17910311	+	Frame_Shift_Del	DEL	C	C	-																															tttaacgggtgctggccttgCcgcctatttcttttataaga																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.4218delC	p.Ala1407ProfsTer35	p.A1407Pfs*35	ENST00000569591	30/30	764	504	260	803	803	0	sindel-varindel-pindel	MRC1,frameshift_variant,p.Ala1407ProfsTer35,ENST00000569591,NM_002438.3;	-	ENST00000569591	Transcript	frameshift_variant	4339/5198	4217/4371	1406/1456	A/X	gCc/gc		1		1	MRC1	HGNC	HGNC:7228	protein_coding	YES	CCDS7123.2	ENSP00000455897	P22897		UPI000012EB9A	NM_002438.3			30/30		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF73																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	39	17910311	17910311	C	-	1	0	1	0	1	0	0	0	0	9722	739	26	0		0	MRC1	10	17910311	Frame_Shift_Del	DEL	C	C3N-00175_TP	16048	17910311	115887111	785	10935											
SLC39A12	0	.	GRCh38	chr10	18042797	18042797	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaggttggctttctctcctGctcttggctatatatgagca	6	16	9	10	0	2	1	0	1	2	0	4	1	3	1	1	3	2	5	1	3	4	7			C3N-00175_TP	C3N-00175_NB	G	G																c.2040G>A	p.=	p.L680L	ENST00000377369	13/13	217	159	58	223	223	0	strelka-varscan-mutect	SLC39A12,synonymous_variant,p.=,ENST00000377369,NM_001145195.1;SLC39A12,synonymous_variant,p.=,ENST00000377371,NM_001282733.1;SLC39A12,synonymous_variant,p.=,ENST00000377374,NM_152725.3;SLC39A12,synonymous_variant,p.=,ENST00000539911,NM_001282734.1;	A	ENST00000377369	Transcript	synonymous_variant	2313/2808	2040/2076	680/691	L	ctG/ctA	COSM1504898,COSM5306319	1		1	SLC39A12	HGNC	HGNC:20860	protein_coding	YES	CCDS44362.1	ENSP00000366586	Q504Y0		UPI00004044FC	NM_001145195.1			13/13		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191,Pfam_domain:PF02535											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	39	18042797	18042797	G	A	1	0	0	0	0	0	0	0	1	14893	1306	46	3		3	SLC39A12	10	18042797	Silent	SNP	G	C3N-00175_TP	132486	18042797	115754625	786	10936											
NEBL	0	.	GRCh38	chr10	20850481	20850481	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctttcccttatttttctCatattcttctttatatttca	6	24	2	9	0	4	0	2	0	3	0	6	0	5	0	1	1	0	1	1	1	4	11	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1030G>T	p.Glu344Ter	p.E344*	ENST00000377122	11/28	160	107	53	197	197	0	strelka-varscan-mutect	NEBL,stop_gained,p.Glu344Ter,ENST00000377122,NM_006393.2;NEBL,intron_variant,,ENST00000417816,NM_213569.2,NM_001173484.1;NEBL,upstream_gene_variant,,ENST00000482754,;	A	ENST00000377122	Transcript	stop_gained	1427/9216	1030/3045	344/1014	E/*	Gag/Tag		1		-1	NEBL	HGNC	HGNC:16932	protein_coding	YES	CCDS7134.1	ENSP00000366326	O76041		UPI000012FEE8	NM_006393.2			11/28		Low_complexity_(Seg):seg,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	20850481	20850481	C	A	1	0	0	0	0	0	1	0	0	10327	835	29	2		2	NEBL	10	20850481	Nonsense_Mutation	SNP	C	C3N-00175_TP	2807684	20850481	112946941	787	10937											
KIAA1217	0	.	GRCh38	chr10	24513384	24513384	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcgcgtcctagtggagcaAgagagacaaaaatatcttca	15	7	10	9	2	2	2	1	0	1	2	3	4	3	3	1	1	2	1	1	1	5	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2127A>G	p.=	p.Q709Q	ENST00000376454	10/21	173	122	51	154	154	0	strelka-varscan-mutect	KIAA1217,synonymous_variant,p.=,ENST00000376451,;KIAA1217,synonymous_variant,p.=,ENST00000376454,NM_019590.4;KIAA1217,synonymous_variant,p.=,ENST00000376462,NM_001098500.2;KIAA1217,synonymous_variant,p.=,ENST00000376452,NM_001282767.1;KIAA1217,synonymous_variant,p.=,ENST00000458595,NM_001282768.1;KIAA1217,synonymous_variant,p.=,ENST00000430453,;KIAA1217,synonymous_variant,p.=,ENST00000396445,;KIAA1217,synonymous_variant,p.=,ENST00000307544,NM_001282769.1;KIAA1217,synonymous_variant,p.=,ENST00000376456,;KIAA1217,synonymous_variant,p.=,ENST00000396446,NM_001282770.1;KIAA1217,synonymous_variant,p.=,ENST00000438429,;KIAA1217,downstream_gene_variant,,ENST00000460373,;	G	ENST00000376454	Transcript	synonymous_variant	2157/7381	2127/5832	709/1943	Q	caA/caG		1		1	KIAA1217	HGNC	HGNC:25428	protein_coding	YES	CCDS31165.1	ENSP00000365637	Q5T5P2		UPI000013EC2A	NM_019590.4			10/21		Pfam_domain:PF03915,hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	39	24513384	24513384	A	G	1	0	0	0	0	0	0	0	1	8109	69	3	5		5	KIAA1217	10	24513384	Silent	SNP	A	C3N-00175_TP	3662903	24513384	109284038	788	10938											
GPR158	0	.	GRCh38	chr10	25395966	25395966	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcctatgagtgcatttgcaAagcaggattctatcatcctg	11	12	9	9	0	2	1	1	1	1	0	3	2	3	2	2	1	4	3	2	1	3	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1064A>T	p.Lys355Ile	p.K355I	ENST00000376351	3/11	317	243	74	264	264	0	strelka-varscan-mutect	GPR158,missense_variant,p.Lys355Ile,ENST00000376351,NM_020752.2;RN7SKP220,upstream_gene_variant,,ENST00000410611,;	T	ENST00000376351	Transcript	missense_variant	1423/6959	1064/3648	355/1215	K/I	aAa/aTa		1		1	GPR158	HGNC	HGNC:23689	protein_coding	YES	CCDS31166.1	ENSP00000365529	Q5T848		UPI0000199875	NM_020752.2	deleterious(0)		3/11		hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	25395966	25395966	A	T	1	0	0	0	0	1	0	0	0	6549	14	1	4		4	GPR158	10	25395966	Missense_Mutation	SNP	A	C3N-00175_TP	882582	25395966	108401456	789	10939											
GPR158	0	.	GRCh38	chr10	25598561	25598561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatctgggattatgaaacaaCaaagggtcaaccccaccact	16	7	7	11	0	2	1	1	1	1	0	2	2	2	2	3	2	3	0	3	2	6	1	rs376559311		C3N-00175_TP	C3N-00175_NB	C	C																c.2935C>A	p.Gln979Lys	p.Q979K	ENST00000376351	11/11	326	297	29	254	254	0	strelka-varscan-mutect	GPR158,missense_variant,p.Gln979Lys,ENST00000376351,NM_020752.2;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	A	ENST00000376351	Transcript	missense_variant	3294/6959	2935/3648	979/1215	Q/K	Caa/Aaa	rs376559311	1		1	GPR158	HGNC	HGNC:23689	protein_coding	YES	CCDS31166.1	ENSP00000365529	Q5T848		UPI0000199875	NM_020752.2	tolerated(0.14)		11/11		hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546																	MODERATE	1	SNV	1			1										PASS		rs376559311	.												A	3	1	39	25598561	25598561	C	A	1	0	0	0	0	1	0	0	0	6549	479	17	2		2	GPR158	10	25598561	Missense_Mutation	SNP	C	C3N-00175_TP	202595	25598561	108198861	790	10940											
MAP3K8	0	.	GRCh38	chr10	30451739	30451739	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctaaggacctccgaggaAcagaggtaattatgttcaca	13	10	9	9	1	1	1	1	0	0	1	3	4	3	3	3	3	1	2	3	3	4	5	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.868A>T	p.Thr290Ser	p.T290S	ENST00000263056	6/9	180	124	56	131	131	0	strelka-varscan-mutect	MAP3K8,missense_variant,p.Thr290Ser,ENST00000263056,NM_005204.3;MAP3K8,missense_variant,p.Thr290Ser,ENST00000542547,NM_001244134.1;MAP3K8,missense_variant,p.Thr290Ser,ENST00000375321,;MAP3K8,downstream_gene_variant,,ENST00000415139,;MAP3K8,downstream_gene_variant,,ENST00000413724,;MAP3K8,downstream_gene_variant,,ENST00000430603,;	T	ENST00000263056	Transcript	missense_variant	1564/3096	868/1404	290/467	T/S	Aca/Tca		1		1	MAP3K8	HGNC	HGNC:6860	protein_coding	YES	CCDS7166.1	ENSP00000263056	P41279		UPI000013D395	NM_005204.3	deleterious(0.04)		6/9		PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF94,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,PIRSF_domain:PIRSF038171,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	30451739	30451739	A	T	1	0	0	0	0	1	0	0	0	9180	57	2	4		4	MAP3K8	10	30451739	Missense_Mutation	SNP	A	C3N-00175_TP	4853178	30451739	103345683	791	10941											
ITGB1	0	.	GRCh38	chr10	32901600	32901600	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacttcggattgaccacAgttgttacggcactcttata	10	14	7	10	2	2	1	1	1	1	0	3	2	2	2	1	2	2	3	1	2	4	7	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2367T>A	p.=	p.T789T	ENST00000396033	16/16	159	150	9	142	142	0	varscan-mutect	ITGB1,synonymous_variant,p.=,ENST00000396033,NM_133376.2;ITGB1,synonymous_variant,p.=,ENST00000302278,NM_002211.3;ITGB1,3_prime_UTR_variant,,ENST00000423113,NM_033668.2;ITGB1,3_prime_UTR_variant,,ENST00000488427,;ITGB1,3_prime_UTR_variant,,ENST00000494395,;	T	ENST00000396033	Transcript	synonymous_variant	2503/3784	2367/2397	789/798	T	acT/acA		1		-1	ITGB1	HGNC	HGNC:6153	protein_coding	YES	CCDS7174.1	ENSP00000379350	P05556		UPI0000070EEB	NM_133376.2			16/16		Gene3D:1m8oB00,Pfam_domain:PF08725,PIRSF_domain:PIRSF002512,Prints_domain:PR01186,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF28,SMART_domains:SM01241																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	39	32901600	32901600	A	T	1	0	0	0	0	0	0	0	1	7797	175	7	4		4	ITGB1	10	32901600	Silent	SNP	A	C3N-00175_TP	2449861	32901600	100895822	792	10942											
ZNF25	0	.	GRCh38	chr10	37952511	37952511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagttcgctgatgtactgtGagggctgacttctggtagaa	8	13	14	6	1	1	5	0	4	1	1	2	5	1	5	0	2	1	5	0	2	3	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.987C>T	p.=	p.L329L	ENST00000302609	6/6	142	125	17	131	131	0	strelka-varscan-mutect	ZNF25,synonymous_variant,p.=,ENST00000302609,NM_145011.2;ZNF25,non_coding_transcript_exon_variant,,ENST00000374633,;ZNF25,downstream_gene_variant,,ENST00000467975,;	A	ENST00000302609	Transcript	synonymous_variant	1200/4139	987/1371	329/456	L	ctC/ctT		1		-1	ZNF25	HGNC	HGNC:13043	protein_coding	YES	CCDS7195.1	ENSP00000302222	P17030		UPI0000071FFD	NM_145011.2			6/6		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF62,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	37952511	37952511	G	A	1	0	0	0	0	0	0	0	1	18370	1277	45	3		3	ZNF25	10	37952511	Silent	SNP	G	C3N-00175_TP	5050911	37952511	95844911	793	10943											
RET	0	.	GRCh38	chr10	43077286	43077286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcgacgtccggtgccgcgGggctgcgtctgctgttgctg	2	9	18	12	6	1	0	0	0	1	0	2	1	2	0	2	4	4	4	2	4	0	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.28G>T	p.Gly10Trp	p.G10W	ENST00000355710	1/20	366	248	118	292	292	0	strelka-varscan-mutect	RET,missense_variant,p.Gly10Trp,ENST00000355710,NM_020975.4;RET,missense_variant,p.Gly10Trp,ENST00000615310,;RET,missense_variant,p.Gly10Trp,ENST00000340058,NM_020630.4;RET,missense_variant,p.Gly10Trp,ENST00000498820,;	T	ENST00000355710	Transcript	missense_variant	260/5659	28/3345	10/1114	G/W	Ggg/Tgg		1		1	RET	HGNC	HGNC:9967	protein_coding	YES	CCDS7200.1	ENSP00000347942	P07949	A0A024R7T2	UPI00001336E1	NM_020975.4	deleterious_low_confidence(0)		1/20		PIRSF_domain:PIRSF000631,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	43077286	43077286	G	T	1	0	0	0	0	1	0	0	0	13406	1232	43	2		2	RET	10	43077286	Missense_Mutation	SNP	G	C3N-00175_TP	5124775	43077286	90720136	794	10944											
FAM21C	0	.	GRCh38	chr10	45765694	45765694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctaggataatctttttgggGgtacagctgctaagaagcag	11	12	12	6	0	2	1	0	0	2	1	2	2	2	2	0	3	4	4	0	3	5	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1753G>A	p.Gly585Ser	p.G585S	ENST00000374362	19/30	289	236	53	352	352	0	strelka-varscan-mutect	FAM21C,missense_variant,p.Gly585Ser,ENST00000336378,;FAM21C,missense_variant,p.Gly585Ser,ENST00000374362,NM_015262.2;FAM21C,missense_variant,p.Gly585Ser,ENST00000623400,;FAM21C,missense_variant,p.Gly585Ser,ENST00000540872,NM_001169106.1;FAM21C,missense_variant,p.Gly529Ser,ENST00000359860,;FAM21C,missense_variant,p.Gly561Ser,ENST00000537517,NM_001169107.1;	A	ENST00000374362	Transcript	missense_variant	1852/4623	1753/3963	585/1320	G/S	Ggt/Agt		1		1	FAM21C	HGNC	HGNC:23414	protein_coding	YES	CCDS44374.2	ENSP00000363482	Q9Y4E1		UPI0000551BE9	NM_015262.2	tolerated(0.73)		19/30		hmmpanther:PTHR21669:SF4,hmmpanther:PTHR21669																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	45765694	45765694	G	A	1	0	0	0	0	1	0	0	0	5412	1232	43	3		3	FAM21C	10	45765694	Missense_Mutation	SNP	G	C3N-00175_TP	2688408	45765694	88031728	795	10945											
MSMB	0	.	GRCh38	chr10	46033481	46033481	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccttcttctccaccacgaTatacttgcagtcctccttct	6	15	4	16	1	3	0	0	0	3	0	7	1	6	0	5	0	2	1	5	0	2	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.286A>T	p.Ile96Phe	p.I96F	ENST00000582163	4/4	165	134	31	192	192	0	strelka-varscan-mutect	MSMB,missense_variant,p.Ile96Phe,ENST00000582163,NM_002443.3;MSMB,synonymous_variant,p.=,ENST00000581478,NM_138634.2;NCOA4,upstream_gene_variant,,ENST00000581486,NM_001145263.1;NCOA4,upstream_gene_variant,,ENST00000578454,NM_001145260.1;NCOA4,upstream_gene_variant,,ENST00000579039,NM_001145261.1;NCOA4,upstream_gene_variant,,ENST00000585056,;NCOA4,upstream_gene_variant,,ENST00000580070,;	A	ENST00000582163	Transcript	missense_variant	318/488	286/345	96/114	I/F	Atc/Ttc		1		-1	MSMB	HGNC	HGNC:7372	protein_coding	YES	CCDS73096.1	ENSP00000463092	P08118		UPI000012F617	NM_002443.3	deleterious(0.01)		4/4		hmmpanther:PTHR10500:SF0,hmmpanther:PTHR10500,Pfam_domain:PF05825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	46033481	46033481	T	A	1	0	0	0	0	1	0	0	0	9865	1406	49	4		4	MSMB	10	46033481	Missense_Mutation	SNP	T	C3N-00175_TP	267787	46033481	87763941	796	10946											
ARHGAP22	0	.	GRCh38	chr10	48479648	48479648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagtacctccgcccagcgGggcccagatgactcggcgga	7	4	15	15	4	0	2	0	1	0	1	2	3	1	3	4	5	2	2	4	5	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.439C>A	p.Pro147Thr	p.P147T	ENST00000417912	4/10	138	111	27	148	148	0	strelka-varscan-mutect	ARHGAP22,missense_variant,p.Pro147Thr,ENST00000249601,NM_021226.3;ARHGAP22,missense_variant,p.Pro153Thr,ENST00000435790,NM_001256025.2;ARHGAP22,missense_variant,p.Pro22Thr,ENST00000374172,;ARHGAP22,missense_variant,p.Pro147Thr,ENST00000417912,NM_001256024.1;ARHGAP22,missense_variant,p.Pro57Thr,ENST00000417247,NM_001256026.1;ARHGAP22,missense_variant,p.Pro57Thr,ENST00000374170,;ARHGAP22,intron_variant,,ENST00000471013,;ARHGAP22,upstream_gene_variant,,ENST00000515523,;ARHGAP22,missense_variant,p.Pro153Thr,ENST00000460425,;	T	ENST00000417912	Transcript	missense_variant	595/2352	439/2145	147/714	P/T	Ccg/Acg		1		-1	ARHGAP22	HGNC	HGNC:30320	protein_coding	YES	CCDS58080.1	ENSP00000412461	Q7Z5H3		UPI0000E5BE9D	NM_001256024.1	deleterious(0)		4/10		Gene3D:2.30.29.30,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF22,SMART_domains:SM00233																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	48479648	48479648	G	T	1	0	0	0	0	1	0	0	0	996	1232	43	2		2	ARHGAP22	10	48479648	Missense_Mutation	SNP	G	C3N-00175_TP	2446167	48479648	85317774	797	10947											
LRRC18	0	.	GRCh38	chr10	48913731	48913731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcgtggagctccttcaggGcccccagtgtggtgggcacg	4	8	15	14	2	1	0	1	0	0	0	3	1	2	1	4	4	1	2	4	4	0	1	rs763695309		C3N-00175_TP	C3N-00175_NB	G	G																c.425C>A	p.Ala142Asp	p.A142D	ENST00000374160	1/2	59	49	10	94	94	0	strelka-varscan-mutect	LRRC18,missense_variant,p.Ala142Asp,ENST00000374160,NM_001006939.3;WDFY4,intron_variant,,ENST00000325239,NM_020945.1;WDFY4,intron_variant,,ENST00000265453,;RP11-523O18.7,intron_variant,,ENST00000430438,;	T	ENST00000374160	Transcript	missense_variant	502/1617	425/786	142/261	A/D	gCc/gAc	rs763695309	1		-1	LRRC18	HGNC	HGNC:23199	protein_coding	YES	CCDS31197.1	ENSP00000363275	Q8N456		UPI00001F98A9	NM_001006939.3	tolerated(0.06)		1/2		PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF593,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs763695309	.												T	3	4	39	48913731	48913731	G	T	1	0	0	0	0	1	0	0	0	8869	1203	42	2		2	LRRC18	10	48913731	Missense_Mutation	SNP	G	C3N-00175_TP	434083	48913731	84883691	798	10948											
ERCC6	0	.	GRCh38	chr10	49524771	49524771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgccaagactggatggcCccggctctgaaagaacaata	12	7	11	11	1	1	3	0	1	1	2	1	4	1	4	3	3	3	2	3	3	5	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.659G>T	p.Gly220Val	p.G220V	ENST00000355832	5/21	305	233	72	435	435	0	strelka-varscan-mutect	ERCC6,missense_variant,p.Gly220Val,ENST00000355832,NM_000124.3;ERCC6,missense_variant,p.Gly220Val,ENST00000515869,NM_001277059.1;ERCC6,missense_variant,p.Gly220Val,ENST00000447839,NM_001277058.1;ERCC6,downstream_gene_variant,,ENST00000479652,;	A	ENST00000355832	Transcript	missense_variant	738/8008	659/4482	220/1493	G/V	gGg/gTg		1		-1	ERCC6	HGNC	HGNC:3438	protein_coding	YES	CCDS7229.1	ENSP00000348089	Q03468		UPI000000D8DA	NM_000124.3	deleterious(0.01)		5/21																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	49524771	49524771	C	A	1	0	0	0	0	1	0	0	0	5066	623	22	2		2	ERCC6	10	49524771	Missense_Mutation	SNP	C	C3N-00175_TP	611040	49524771	84272651	799	10949											
PCDH15	0	.	GRCh38	chr10	53823265	53823265	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgagcctcaatagtattGgaagaaaagggcatcacaac	15	9	10	7	0	2	2	2	1	0	1	2	3	2	3	1	2	2	2	1	2	7	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.4482C>A	p.=	p.S1494S	ENST00000373957	35/35	168	125	43	197	197	0	strelka-varscan-mutect	PCDH15,synonymous_variant,p.=,ENST00000617051,;PCDH15,synonymous_variant,p.=,ENST00000373957,NM_001142763.1;PCDH15,synonymous_variant,p.=,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,synonymous_variant,p.=,ENST00000395430,NM_001142766.1;PCDH15,synonymous_variant,p.=,ENST00000395433,NM_001142773.1;PCDH15,synonymous_variant,p.=,ENST00000395432,NM_001142767.1;PCDH15,synonymous_variant,p.=,ENST00000320301,NM_033056.3;PCDH15,synonymous_variant,p.=,ENST00000622048,;PCDH15,synonymous_variant,p.=,ENST00000437009,NM_001142765.1;PCDH15,intron_variant,,ENST00000614895,;PCDH15,intron_variant,,ENST00000373965,NM_001142772.1;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000617271,NM_001142770.1;PCDH15,intron_variant,,ENST00000613657,NM_001142769.1;PCDH15,intron_variant,,ENST00000395445,;PCDH15,intron_variant,,ENST00000616114,;PCDH15,intron_variant,,ENST00000395438,;PCDH15,intron_variant,,ENST00000612394,;PCDH15,intron_variant,,ENST00000621708,NM_001142771.1;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,intron_variant,,ENST00000618301,;PCDH15,non_coding_transcript_exon_variant,,ENST00000463095,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;PCDH15,upstream_gene_variant,,ENST00000476074,;	T	ENST00000373957	Transcript	synonymous_variant	4877/7032	4482/5889	1494/1962	S	tcC/tcA		1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1			35/35																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	39	53823265	53823265	G	T	1	0	0	0	0	0	0	0	1	11598	1335	47	2		2	PCDH15	10	53823265	Silent	SNP	G	C3N-00175_TP	4298494	53823265	79974157	800	10950											
ANK3	0	.	GRCh38	chr10	60213413	60213413	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacctgaaaagaaattaccTtggtttttgaaagaatgggg	16	11	10	4	0	0	4	0	2	0	2	0	4	0	4	2	3	2	1	2	3	7	4	rs375976636		C3N-00175_TP	C3N-00175_NB	T	T																c.995A>T	p.Lys332Met	p.K332M	ENST00000280772	9/44	69	58	11	78	78	0	strelka-varscan-mutect	ANK3,missense_variant,p.Lys332Met,ENST00000280772,NM_020987.3;ANK3,missense_variant,p.Lys326Met,ENST00000373827,NM_001204403.1;ANK3,missense_variant,p.Lys315Met,ENST00000503366,NM_001204404.1;ANK3,missense_variant,p.Lys315Met,ENST00000622427,;	A	ENST00000280772	Transcript	missense_variant,splice_region_variant	1187/16874	995/13134	332/4377	K/M	aAg/aTg	rs375976636	1		-1	ANK3	HGNC	HGNC:494	protein_coding	YES	CCDS7258.1	ENSP00000280772	Q12955		UPI0000141BA9	NM_020987.3	deleterious(0)		9/44		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF22,Pfam_domain:PF12796,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs375976636	.												A	3	1	39	60213413	60213413	T	A	1	0	0	0	0	1	0	0	0	722	1623	56	4		4	ANK3	10	60213413	Missense_Mutation	SNP	T	C3N-00175_TP	6390148	60213413	73584009	801	10951											
PBLD	0	.	GRCh38	chr10	68284217	68284217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaaaacaacagctgcacctCctctaatgtcaacccttccg	12	9	4	16	1	2	0	1	0	1	0	4	0	4	0	4	0	5	2	4	0	5	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.827G>T	p.Gly276Val	p.G276V	ENST00000358769	10/10	153	128	25	225	225	0	strelka-varscan-mutect	PBLD,missense_variant,p.Gly276Val,ENST00000358769,NM_022129.3;PBLD,missense_variant,p.Gly243Val,ENST00000336578,;PBLD,missense_variant,p.Gly276Val,ENST00000309049,;PBLD,intron_variant,,ENST00000468798,;PBLD,downstream_gene_variant,,ENST00000495025,NM_001033083.1;PBLD,downstream_gene_variant,,ENST00000277795,;	A	ENST00000358769	Transcript	missense_variant	1030/2587	827/867	276/288	G/V	gGa/gTa		1		-1	PBLD	HGNC	HGNC:23301	protein_coding	YES	CCDS7277.2	ENSP00000351619	P30039	A0A024QZK5	UPI0000000DCA	NM_022129.3	deleterious(0)		10/10		hmmpanther:PTHR13774:SF17,hmmpanther:PTHR13774,PIRSF_domain:PIRSF016184,Pfam_domain:PF02567,Gene3D:3.10.310.10,Superfamily_domains:SSF54506																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	68284217	68284217	C	A	1	0	0	0	0	1	0	0	0	11576	855	30	2		2	PBLD	10	68284217	Missense_Mutation	SNP	C	C3N-00175_TP	8070804	68284217	65513205	802	10952											
HKDC1	0	.	GRCh38	chr10	69248545	69248545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgcggtggcctcccgcGtgcaggcccagcggaagcag	6	4	16	15	5	0	1	0	1	0	0	1	2	1	2	4	4	3	2	4	4	1	0	rs754621268,rs762100434		C3N-00175_TP	C3N-00175_NB	G	G																c.1387G>T	p.Val463Leu	p.V463L	ENST00000354624	10/18	146	106	40	159	159	0	strelka-varscan-mutect	HKDC1,missense_variant,p.Val463Leu,ENST00000354624,NM_025130.3;HKDC1,non_coding_transcript_exon_variant,,ENST00000488706,;	T	ENST00000354624	Transcript	missense_variant	1520/3689	1387/2754	463/917	V/L	Gtg/Ttg	rs754621268,rs762100434	1		1	HKDC1	HGNC	HGNC:23302	protein_coding	YES	CCDS7288.1	ENSP00000346643	Q2TB90		UPI00003666D2	NM_025130.3	tolerated(1)		10/18		hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF28,Gene3D:3.40.367.20,Superfamily_domains:SSF53067,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		rs762100434	.												T	3	4	39	69248545	69248545	G	T	1	0	0	0	0	1	0	0	0	7082	1145	40	1		1	HKDC1	10	69248545	Missense_Mutation	SNP	G	C3N-00175_TP	964328	69248545	64548877	803	10953											
TBATA	0	.	GRCh38	chr10	70777231	70777231	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactctgctggccctggtgAgatctgcggcggccgacagc	5	8	15	13	3	2	2	0	2	2	1	2	4	2	2	2	4	3	1	2	4	0	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.612T>A	p.=	p.S204S	ENST00000299290	7/11	175	138	37	202	202	0	strelka-varscan-mutect	TBATA,synonymous_variant,p.=,ENST00000456372,NM_001318241.1;TBATA,synonymous_variant,p.=,ENST00000299290,NM_001318243.1,NM_152710.2;TBATA,upstream_gene_variant,,ENST00000394982,;	T	ENST00000299290	Transcript	synonymous_variant	1002/1583	612/1056	204/351	S	tcT/tcA		1		-1	TBATA	HGNC	HGNC:23511	protein_coding	YES	CCDS7308.1	ENSP00000299290	Q96M53		UPI000013E57C	NM_001318243.1,NM_152710.2			7/11		Low_complexity_(Seg):seg,hmmpanther:PTHR33772,hmmpanther:PTHR33772:SF3,Pfam_domain:PF15256																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	70777231	70777231	A	T	1	0	0	0	0	0	0	0	1	15996	291	11	4		4	TBATA	10	70777231	Silent	SNP	A	C3N-00175_TP	1528686	70777231	63020191	804	10954											
C10orf105	0	.	GRCh38	chr10	71715957	71715957	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatcttggtagattccatGtagtcacagtggctgcggtt	8	14	11	8	1	2	1	1	0	1	1	3	1	3	1	1	3	2	4	1	3	3	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.381C>A	p.Tyr127Ter	p.Y127*	ENST00000441508	2/2	20	16	4	32	32	0	strelka-varscan-mutect	C10orf105,stop_gained,p.Tyr127Ter,ENST00000441508,NM_001164375.2;C10orf105,stop_gained,p.Tyr127Ter,ENST00000398786,NM_001168390.1;CDH23,3_prime_UTR_variant,,ENST00000442677,;CDH23,3_prime_UTR_variant,,ENST00000466757,;CDH23,intron_variant,,ENST00000224721,NM_022124.5;CDH23,intron_variant,,ENST00000622827,;CDH23,intron_variant,,ENST00000616684,NM_001171930.1;CDH23,intron_variant,,ENST00000398809,;CDH23,intron_variant,,ENST00000398792,;	T	ENST00000441508	Transcript	stop_gained	581/4837	381/402	127/133	Y/*	taC/taA		1		-1	C10orf105	HGNC	HGNC:20304	protein_coding	YES	CCDS44430.1	ENSP00000403151	Q8TEF2		UPI00001F8E63	NM_001164375.2			2/2		hmmpanther:PTHR38325,hmmpanther:PTHR38325:SF1																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	39	71715957	71715957	G	T	1	0	0	0	0	0	1	0	0	1756	1372	48	2		2	C10orf105	10	71715957	Nonsense_Mutation	SNP	G	C3N-00175_TP	938726	71715957	62081465	805	10955											
CDH23	0	.	GRCh38	chr10	71738516	71738516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtctacatcactgtgctgGacgagaatgacaacagcccc	12	7	10	12	1	2	2	1	1	1	1	2	4	2	3	2	2	4	1	2	2	3	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.4243G>T	p.Asp1415Tyr	p.D1415Y	ENST00000224721	35/70	269	227	42	308	308	0	strelka-varscan-mutect	CDH23,missense_variant,p.Asp1415Tyr,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Asp1410Tyr,ENST00000622827,;C10orf105,upstream_gene_variant,,ENST00000398786,NM_001168390.1;CDH23,non_coding_transcript_exon_variant,,ENST00000398792,;	T	ENST00000224721	Transcript	missense_variant	4633/11139	4243/10080	1415/3359	D/Y	Gac/Tac		1		1	CDH23	HGNC	HGNC:13733	protein_coding			ENSP00000224721		A0A0A0MQS6	UPI0002B831D5	NM_022124.5	deleterious(0)		35/70		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF277,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	39	71738516	71738516	G	T	1	0	0	0	0	1	0	0	0	2811	1174	41	2		2	CDH23	10	71738516	Missense_Mutation	SNP	G	C3N-00175_TP	22559	71738516	62058906	806	10956											
ASCC1	0	.	GRCh38	chr10	72213272	72213272	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taattccggccatcaattctTataagctgtggacgcagaac	12	11	8	10	2	2	1	1	0	1	1	3	2	3	2	2	2	2	2	2	2	5	5	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.27A>T	p.=	p.I9I	ENST00000342444	2/13	341	269	72	426	426	0	strelka-varscan-mutect	ASCC1,synonymous_variant,p.=,ENST00000394919,NM_001198798.2;ASCC1,synonymous_variant,p.=,ENST00000342444,NM_001198799.2;ASCC1,synonymous_variant,p.=,ENST00000317168,NM_001198800.2;ASCC1,synonymous_variant,p.=,ENST00000394915,;ASCC1,synonymous_variant,p.=,ENST00000317126,;ASCC1,synonymous_variant,p.=,ENST00000533958,;ASCC1,synonymous_variant,p.=,ENST00000524829,;ASCC1,synonymous_variant,p.=,ENST00000527593,;ASCC1,synonymous_variant,p.=,ENST00000526751,;ASCC1,synonymous_variant,p.=,ENST00000531048,;ASCC1,5_prime_UTR_variant,,ENST00000530461,;ANAPC16,upstream_gene_variant,,ENST00000621663,NM_001242546.1,NM_001242547.1;ANAPC16,upstream_gene_variant,,ENST00000299381,NM_173473.3;ANAPC16,upstream_gene_variant,,ENST00000615507,NM_001242548.1;ASCC1,upstream_gene_variant,,ENST00000486689,;ASCC1,non_coding_transcript_exon_variant,,ENST00000492502,;ANAPC16,upstream_gene_variant,,ENST00000478193,;ASCC1,synonymous_variant,p.=,ENST00000532011,;	A	ENST00000342444	Transcript	synonymous_variant	129/2270	27/1203	9/400	I	atA/atT		1		-1	ASCC1	HGNC	HGNC:24268	protein_coding	YES	CCDS55713.1	ENSP00000339404	Q8N9N2		UPI000006F7E9	NM_001198799.2			2/13		hmmpanther:PTHR13360:SF1,hmmpanther:PTHR13360,PIRSF_domain:PIRSF027019																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	39	72213272	72213272	T	A	1	0	0	0	0	0	0	0	1	1173	1744	61	4		4	ASCC1	10	72213272	Silent	SNP	T	C3N-00175_TP	474756	72213272	61584150	807	10957											
MSS51	0	.	GRCh38	chr10	73426094	73426094	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccacatgcactgtgctTcccccagtcctcctaacatc	9	9	4	19	0	0	0	0	0	0	0	4	0	3	0	6	0	4	2	6	0	2	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.786A>T	p.=	p.G262G	ENST00000299432	5/7	131	114	17	174	174	0	strelka-varscan-mutect	MSS51,synonymous_variant,p.=,ENST00000299432,NM_001024593.1;MSS51,synonymous_variant,p.=,ENST00000372912,;MSS51,intron_variant,,ENST00000487126,;RP11-345K20.2,upstream_gene_variant,,ENST00000440913,;	A	ENST00000299432	Transcript	synonymous_variant	852/2421	786/1383	262/460	G	ggA/ggT		1		-1	MSS51	HGNC	HGNC:21000	protein_coding	YES	CCDS31221.1	ENSP00000299432	Q4VC12		UPI00004CA0F2	NM_001024593.1			5/7		hmmpanther:PTHR13244,hmmpanther:PTHR13244:SF9																	LOW	1	SNV	1			1										PASS		rs750108481	.												A	2	1	39	73426094	73426094	T	A	1	0	0	0	0	0	0	0	1	9874	1770	62	4		4	MSS51	10	73426094	Silent	SNP	T	C3N-00175_TP	1212822	73426094	60371328	808	10958											
DUPD1	0	.	GRCh38	chr10	75043888	75043888	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtcgtcggcctccacGccgtggtactggatgtccat	5	9	14	13	4	0	0	0	0	0	0	4	1	2	1	4	5	1	2	4	5	1	1			C3N-00175_TP	C3N-00175_NB	G	G																c.330C>A	p.=	p.G110G	ENST00000338487	2/3	341	264	77	422	422	0	strelka-varscan-mutect	DUPD1,synonymous_variant,p.=,ENST00000338487,NM_001003892.1;	T	ENST00000338487	Transcript	synonymous_variant	330/663	330/663	110/220	G	ggC/ggA	COSM5643197	1		-1	DUPD1	HGNC	HGNC:23481	protein_coding	YES	CCDS31223.1	ENSP00000340609	Q68J44		UPI000003E897	NM_001003892.1			2/3		Gene3D:3.90.190.10,Pfam_domain:PF00782,Prints_domain:PR01908,Prints_domain:PR01909,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF114,SMART_domains:SM00195,Superfamily_domains:SSF52799											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	39	75043888	75043888	G	T	1	0	0	0	0	0	0	0	1	4626	1074	38	1		1	DUPD1	10	75043888	Silent	SNP	G	C3N-00175_TP	1617794	75043888	58753534	809	10959											
TSPAN14	0	.	GRCh38	chr10	80509380	80509380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgttccaggactgggtgaGggaccggttccgggagttct	5	10	16	10	2	1	1	0	1	1	0	3	4	3	4	4	5	0	3	4	5	0	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.359G>A	p.Arg120Lys	p.R120K	ENST00000429989	5/9	195	156	39	226	226	0	strelka-varscan-mutect	TSPAN14,missense_variant,p.Arg120Lys,ENST00000429989,NM_030927.2;TSPAN14,missense_variant,p.Arg103Lys,ENST00000372164,;TSPAN14,missense_variant,p.Arg103Lys,ENST00000616406,;TSPAN14,missense_variant,p.Arg120Lys,ENST00000372156,;TSPAN14,missense_variant,p.Arg120Lys,ENST00000372158,;TSPAN14,missense_variant,p.Arg90Lys,ENST00000372157,;TSPAN14,intron_variant,,ENST00000341863,;TSPAN14,intron_variant,,ENST00000481124,NM_001128309.1;TSPAN14,non_coding_transcript_exon_variant,,ENST00000469149,;	A	ENST00000429989	Transcript	missense_variant	582/16183	359/813	120/270	R/K	aGg/aAg		1		1	TSPAN14	HGNC	HGNC:23303	protein_coding	YES	CCDS7369.1	ENSP00000396270	Q8NG11		UPI000004ACAE	NM_030927.2	tolerated(1)		5/9		Superfamily_domains:0037997,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF256																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	80509380	80509380	G	A	1	0	0	0	0	1	0	0	0	17143	1000	35	3		3	TSPAN14	10	80509380	Missense_Mutation	SNP	G	C3N-00175_TP	5465492	80509380	53288042	810	10960											
GRID1	0	.	GRCh38	chr10	85728010	85728010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaccctttgtagcgcttggGctgtcctaggatgttctcag	6	13	12	10	1	1	0	1	0	1	0	3	2	2	1	2	2	2	4	2	2	3	5			C3N-00175_TP	C3N-00175_NB	G	G																c.1378C>A	p.Pro460Thr	p.P460T	ENST00000327946	10/16	227	186	41	287	287	0	strelka-varscan-mutect	GRID1,missense_variant,p.Pro460Thr,ENST00000327946,NM_017551.2;GRID1,missense_variant,p.Pro460Thr,ENST00000464741,;	T	ENST00000327946	Transcript	missense_variant	1464/5834	1378/3030	460/1009	P/T	Ccc/Acc	COSM685156	1		-1	GRID1	HGNC	HGNC:4575	protein_coding	YES	CCDS31236.1	ENSP00000330148	Q9ULK0		UPI00001D8051	NM_017551.2	deleterious(0.04)		10/16		Gene3D:3.40.190.10,Pfam_domain:PF10613,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF108,SMART_domains:SM00079,SMART_domains:SM00918,Superfamily_domains:SSF53850											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	39	85728010	85728010	G	T	1	0	0	0	0	1	0	0	0	6651	1203	42	2		2	GRID1	10	85728010	Missense_Mutation	SNP	G	C3N-00175_TP	5218630	85728010	48069412	811	10961											
LIPM	0	.	GRCh38	chr10	88802962	88802962	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgtggcttctgattctGgtggcgtatatgttccagag	8	14	13	6	1	2	2	0	1	2	1	3	3	3	2	1	3	0	3	1	3	3	5	rs377287814		C3N-00175_TP	C3N-00175_NB	G	G																c.66G>A	p.=	p.L22L	ENST00000404743	1/9	144	123	21	166	166	0	strelka-varscan-mutect	LIPM,synonymous_variant,p.=,ENST00000404743,NM_001128215.1;LIPM,upstream_gene_variant,,ENST00000539337,;	A	ENST00000404743	Transcript	synonymous_variant	233/1439	66/1272	22/423	L	ctG/ctA	rs377287814	1		1	LIPM	HGNC	HGNC:23455	protein_coding	YES	CCDS44457.1	ENSP00000383901	Q5VYY2		UPI00004B21B5	NM_001128215.1			1/9		PIRSF_domain:PIRSF000862,hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF12																	LOW	1	SNV	1			1										PASS		rs377287814	.												A	2	1	39	88802962	88802962	G	A	1	0	0	0	0	0	0	0	1	8749	1335	47	3		3	LIPM	10	88802962	Silent	SNP	G	C3N-00175_TP	3074952	88802962	44994460	812	10962											
STAMBPL1	0	.	GRCh38	chr10	88916748	88916748	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaccagactattgtgaCatggagaatgtagaggaatt	13	9	14	5	1	0	4	0	1	0	3	0	7	0	6	1	3	0	1	1	3	4	4	rs780250922		C3N-00175_TP	C3N-00175_NB	C	C																c.972C>A	p.Asp324Glu	p.D324E	ENST00000371926	8/11	106	98	8	145	144	1	strelka-varscan-mutect	STAMBPL1,missense_variant,p.Asp324Glu,ENST00000371927,;STAMBPL1,missense_variant,p.Asp324Glu,ENST00000371926,NM_020799.3;STAMBPL1,missense_variant,p.Asp324Glu,ENST00000371924,;STAMBPL1,missense_variant,p.Asp158Glu,ENST00000371922,;	A	ENST00000371926	Transcript	missense_variant	1930/2532	972/1311	324/436	D/E	gaC/gaA	rs780250922	1		1	STAMBPL1	HGNC	HGNC:24105	protein_coding	YES	CCDS7391.1	ENSP00000360994	Q96FJ0		UPI000013FA61	NM_020799.3	tolerated(0.06)		8/11		hmmpanther:PTHR12947:SF7,hmmpanther:PTHR12947,Pfam_domain:PF01398,Gene3D:3.40.140.10,SMART_domains:SM00232,Superfamily_domains:0048572																	MODERATE	1	SNV	1			1										PASS		rs780250922	.												A	3	1	39	88916748	88916748	C	A	1	0	0	0	0	1	0	0	0	15626	477	17	2		2	STAMBPL1	10	88916748	Missense_Mutation	SNP	C	C3N-00175_TP	113786	88916748	44880674	813	10963											
CYP26C1	0	.	GRCh38	chr10	93061301	93061301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagctgcctgtcagtgctggGggcggcgggcactgctctcc	3	8	17	13	2	2	0	1	0	1	0	3	1	2	0	2	4	4	4	2	4	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.38G>A	p.Gly13Glu	p.G13E	ENST00000285949	1/6	92	77	15	161	161	0	strelka-varscan-mutect	CYP26C1,missense_variant,p.Gly13Glu,ENST00000285949,NM_183374.2;EXOC6,downstream_gene_variant,,ENST00000260762,NM_001319195.1,NM_019053.4;EXOC6,downstream_gene_variant,,ENST00000371552,NM_001319194.1,NM_001013848.2;EXOC6,downstream_gene_variant,,ENST00000443748,NM_001319200.1;RP11-348J12.2,upstream_gene_variant,,ENST00000444965,;CYP26C1,missense_variant,p.Gly13Glu,ENST00000624358,;EXOC6,downstream_gene_variant,,ENST00000495132,;	A	ENST00000285949	Transcript	missense_variant	38/1569	38/1569	13/522	G/E	gGg/gAg		1		1	CYP26C1	HGNC	HGNC:20577	protein_coding	YES	CCDS7425.1	ENSP00000285949	Q6V0L0		UPI00002289F0	NM_183374.2	tolerated(0.44)		1/6		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	93061301	93061301	G	A	1	0	0	0	0	1	0	0	0	3960	1232	43	3		3	CYP26C1	10	93061301	Missense_Mutation	SNP	G	C3N-00175_TP	4144553	93061301	40736121	814	10964											
PDE6C	0	.	GRCh38	chr10	93613026	93613026	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctgcagcatgttcctgTgccggtcccggaacggcata	7	8	12	14	4	0	0	0	0	0	0	2	1	2	1	4	3	4	5	4	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.301T>C	p.Cys101Arg	p.C101R	ENST00000371447	1/22	195	168	27	191	191	0	strelka-varscan-mutect	PDE6C,missense_variant,p.Cys101Arg,ENST00000371447,NM_006204.3;	C	ENST00000371447	Transcript	missense_variant	439/3307	301/2577	101/858	C/R	Tgc/Cgc		1		1	PDE6C	HGNC	HGNC:8787	protein_coding	YES	CCDS7429.1	ENSP00000360502	P51160		UPI000013C84A	NM_006204.3	tolerated(0.26)		1/22		hmmpanther:PTHR11347:SF23,hmmpanther:PTHR11347,Gene3D:3.30.450.40,Pfam_domain:PF01590,SMART_domains:SM00065,Superfamily_domains:SSF55781																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	93613026	93613026	T	C	1	0	0	0	0	1	0	0	0	11735	1696	59	5		5	PDE6C	10	93613026	Missense_Mutation	SNP	T	C3N-00175_TP	551725	93613026	40184396	815	10965											
PDE6C	0	.	GRCh38	chr10	93625593	93625593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaattctacgatgaatggCcaatcaagcttggagaagta	15	9	11	6	1	2	2	1	1	1	1	2	5	2	3	1	3	2	2	1	3	7	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.883C>A	p.Pro295Thr	p.P295T	ENST00000371447	5/22	299	254	45	354	354	0	strelka-varscan-mutect	PDE6C,missense_variant,p.Pro295Thr,ENST00000371447,NM_006204.3;	A	ENST00000371447	Transcript	missense_variant	1021/3307	883/2577	295/858	P/T	Cca/Aca		1		1	PDE6C	HGNC	HGNC:8787	protein_coding	YES	CCDS7429.1	ENSP00000360502	P51160		UPI000013C84A	NM_006204.3	deleterious(0.02)		5/22		hmmpanther:PTHR11347:SF23,hmmpanther:PTHR11347,Gene3D:3.30.450.40,Pfam_domain:PF01590,SMART_domains:SM00065																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	93625593	93625593	C	A	1	0	0	0	0	1	0	0	0	11735	739	26	2		2	PDE6C	10	93625593	Missense_Mutation	SNP	C	C3N-00175_TP	12567	93625593	40171829	816	10966											
LGI1	0	.	GRCh38	chr10	93797260	93797260	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatccttacacgcgtggtaCagggacactgatgtggaata	12	9	11	9	2	0	1	0	1	0	0	1	3	1	3	1	3	2	1	1	3	5	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1131C>A	p.Tyr377Ter	p.Y377*	ENST00000371418	8/8	305	244	61	369	369	0	strelka-varscan-mutect	LGI1,stop_gained,p.Tyr377Ter,ENST00000371418,NM_005097.2;LGI1,stop_gained,p.Tyr353Ter,ENST00000629035,;LGI1,stop_gained,p.Tyr329Ter,ENST00000630047,;LGI1,5_prime_UTR_variant,,ENST00000637689,;LGI1,intron_variant,,ENST00000636155,;LGI1,intron_variant,,ENST00000371413,NM_001308275.1;LGI1,downstream_gene_variant,,ENST00000630184,;LGI1,non_coding_transcript_exon_variant,,ENST00000637347,;LGI1,non_coding_transcript_exon_variant,,ENST00000635804,;LGI1,upstream_gene_variant,,ENST00000636775,;LGI1,downstream_gene_variant,,ENST00000630412,;LGI1,3_prime_UTR_variant,,ENST00000637037,;LGI1,3_prime_UTR_variant,,ENST00000635953,;LGI1,3_prime_UTR_variant,,ENST00000627420,;LGI1,3_prime_UTR_variant,,ENST00000637611,;LGI1,3_prime_UTR_variant,,ENST00000636754,;LGI1,3_prime_UTR_variant,,ENST00000636232,;LGI1,3_prime_UTR_variant,,ENST00000637925,;LGI1,3_prime_UTR_variant,,ENST00000638049,;LGI1,non_coding_transcript_exon_variant,,ENST00000626307,;LGI1,intron_variant,,ENST00000636946,;LGI1,downstream_gene_variant,,ENST00000630487,;LGI1,downstream_gene_variant,,ENST00000626946,;	A	ENST00000371418	Transcript	stop_gained	1467/2381	1131/1674	377/557	Y/*	taC/taA		1		1	LGI1	HGNC	HGNC:6572	protein_coding	YES	CCDS7431.1	ENSP00000360472	O95970	A0A0S2Z4S7	UPI0000048F03	NM_005097.2			8/8		Pfam_domain:PF03736,PROSITE_profiles:PS50912,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF17																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	93797260	93797260	C	A	1	0	0	0	0	0	1	0	0	8661	489	17	2		2	LGI1	10	93797260	Nonsense_Mutation	SNP	C	C3N-00175_TP	171667	93797260	40000162	817	10967											
CYP2C18	0	.	GRCh38	chr10	94735372	94735372	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttgacccaaaggatatTgacatcacccccattgccaa	13	8	7	13	0	1	2	1	2	0	0	1	3	1	3	4	2	1	1	4	2	3	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1401T>C	p.=	p.I467I	ENST00000285979	9/9	199	176	23	220	220	0	strelka-varscan-mutect	CYP2C18,synonymous_variant,p.=,ENST00000285979,NM_000772.2;CYP2C18,synonymous_variant,p.=,ENST00000339022,NM_001128925.1;RP11-400G3.5,intron_variant,,ENST00000464755,;	C	ENST00000285979	Transcript	synonymous_variant	1600/2418	1401/1473	467/490	I	atT/atC		1		1	CYP2C18	HGNC	HGNC:2620	protein_coding	YES	CCDS7435.1	ENSP00000285979	P33260		UPI000013DE1D	NM_000772.2			9/9		hmmpanther:PTHR24300:SF123,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	LOW	1	SNV	1			1										PASS		rs886501074	.												C	2	2	39	94735372	94735372	T	C	1	0	0	0	0	0	0	0	1	3968	1800	63	5		5	CYP2C18	10	94735372	Silent	SNP	T	C3N-00175_TP	938112	94735372	39062050	818	10968											
CYP2C8	0	.	GRCh38	chr10	95069344	95069344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctacagctctgtctcCagagtgaaaagagaagcata	13	10	8	10	0	3	3	0	1	3	2	5	4	3	3	2	0	3	2	2	0	5	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.59G>T	p.Trp20Leu	p.W20L	ENST00000371270	1/9	145	106	39	165	165	0	strelka-varscan-mutect	CYP2C8,missense_variant,p.Trp20Leu,ENST00000371270,NM_000770.3;CYP2C8,5_prime_UTR_variant,,ENST00000539050,NM_001198855.1;CYP2C8,5_prime_UTR_variant,,ENST00000623108,NM_001198853.1;CYP2C8,5_prime_UTR_variant,,ENST00000535898,NM_001198854.1;CYP2C8,upstream_gene_variant,,ENST00000628935,;CYP2C8,missense_variant,p.Trp20Leu,ENST00000490994,;CYP2C8,missense_variant,p.Trp20Leu,ENST00000527420,;CYP2C8,missense_variant,p.Trp20Leu,ENST00000525991,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000527953,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000526814,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000533320,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000479946,;	A	ENST00000371270	Transcript	missense_variant	154/1923	59/1473	20/490	W/L	tGg/tTg		1		-1	CYP2C8	HGNC	HGNC:2622	protein_coding	YES	CCDS7438.1	ENSP00000360317	P10632		UPI0000128256	NM_000770.3	deleterious(0.01)		1/9		Gene3D:1.10.630.10,hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF187,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	95069344	95069344	C	A	1	0	0	0	0	1	0	0	0	3970	595	21	2		2	CYP2C8	10	95069344	Missense_Mutation	SNP	C	C3N-00175_TP	333972	95069344	38728078	819	10969											
PIK3AP1	0	.	GRCh38	chr10	96626742	96626742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttcgttgtcaggcagctgGtgagcaccaggagcagtggt	7	9	17	8	1	1	1	1	1	0	0	2	2	1	2	1	5	3	6	1	5	0	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1635C>A	p.His545Gln	p.H545Q	ENST00000339364	10/17	135	105	30	190	190	0	strelka-varscan-mutect	PIK3AP1,missense_variant,p.His545Gln,ENST00000339364,NM_152309.2;PIK3AP1,missense_variant,p.His367Gln,ENST00000371110,;PIK3AP1,missense_variant,p.His144Gln,ENST00000371109,;PIK3AP1,downstream_gene_variant,,ENST00000468783,;	T	ENST00000339364	Transcript	missense_variant	1755/4803	1635/2418	545/805	H/Q	caC/caA		1		-1	PIK3AP1	HGNC	HGNC:30034	protein_coding	YES	CCDS31259.1	ENSP00000339826	Q6ZUJ8		UPI00001F947F	NM_152309.2	tolerated(0.66)		10/17		hmmpanther:PTHR16267,hmmpanther:PTHR16267:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	96626742	96626742	G	T	1	0	0	0	0	1	0	0	0	12003	1252	44	2		2	PIK3AP1	10	96626742	Missense_Mutation	SNP	G	C3N-00175_TP	1557398	96626742	37170680	820	10970											
PIK3AP1	0	.	GRCh38	chr10	96709943	96709943	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaccattcctcggcatcCgggctgtagacgatgaggat	8	9	13	11	3	0	2	0	1	0	1	3	4	2	3	3	4	0	4	3	4	1	2	rs748663928		C3N-00175_TP	C3N-00175_NB	C	C																c.54G>T	p.=	p.P18P	ENST00000339364	2/17	35	30	5	60	60	0	strelka-varscan-mutect	PIK3AP1,synonymous_variant,p.=,ENST00000339364,NM_152309.2;	A	ENST00000339364	Transcript	synonymous_variant	174/4803	54/2418	18/805	P	ccG/ccT	rs748663928	1		-1	PIK3AP1	HGNC	HGNC:30034	protein_coding	YES	CCDS31259.1	ENSP00000339826	Q6ZUJ8		UPI00001F947F	NM_152309.2			2/17		hmmpanther:PTHR16267,hmmpanther:PTHR16267:SF12																	LOW	1	SNV	1			1										PASS		rs748663928	.												A	2	1	39	96709943	96709943	C	A	1	0	0	0	0	0	0	0	1	12003	639	23	1		1	PIK3AP1	10	96709943	Silent	SNP	C	C3N-00175_TP	83201	96709943	37087479	821	10971											
C10orf62	0	.	GRCh38	chr10	97590090	97590090	+	Frame_Shift_Del	DEL	G	G	-																															atgctacccagactgagagtGggagtgaagaggtcagctcc																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.195delG	p.Ser66ValfsTer10	p.S66Vfs*10	ENST00000370640	1/1	98	85	13	138	138	0	sindel-varindel-pindel	C10orf62,frameshift_variant,p.Ser66ValfsTer10,ENST00000370640,NM_001009997.2;HOGA1,intron_variant,,ENST00000370646,NM_138413.3;HOGA1,intron_variant,,ENST00000370647,NM_001134670.1;RP11-548K23.11,intron_variant,,ENST00000370649,;HOGA1,intron_variant,,ENST00000465608,;	-	ENST00000370640	Transcript	frameshift_variant	364/1208	193/672	65/223	G/X	Ggg/gg		1		1	C10orf62	HGNC	HGNC:23294	protein_coding	YES	CCDS31261.1	ENSP00000359674	Q5T681		UPI000046FEE3	NM_001009997.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23008:SF0,hmmpanther:PTHR23008																	HIGH		deletion		2		1										PASS		.	.												-	7	5	39	97590090	97590090	G	-	1	0	1	0	1	0	0	0	0	1767	1348	47	0		0	C10orf62	10	97590090	Frame_Shift_Del	DEL	G	C3N-00175_TP	880147	97590090	36207332	822	10972											
ABCC2	0	.	GRCh38	chr10	99811599	99811599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattcggaagccacagtccGagagtgagttgccttctttc	8	12	11	10	2	1	3	0	2	1	1	4	5	2	4	3	1	2	1	3	1	1	4	rs200976632		C3N-00175_TP	C3N-00175_NB	G	G																c.1964G>T	p.Arg655Leu	p.R655L	ENST00000370449	15/32	347	271	76	412	411	1	strelka-varscan-mutect	ABCC2,missense_variant,p.Arg655Leu,ENST00000370449,NM_000392.4;	T	ENST00000370449	Transcript	missense_variant	2077/5312	1964/4638	655/1545	R/L	cGa/cTa	rs200976632	1		1	ABCC2	HGNC	HGNC:53	protein_coding	YES	CCDS7484.1	ENSP00000359478	Q92887		UPI000013D6CA	NM_000392.4	deleterious(0.04)		15/32		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00957																	MODERATE	1	SNV	1			1										PASS		rs200976632	.												T	3	4	39	99811599	99811599	G	T	1	0	0	0	0	1	0	0	0	57	1072	37	1		1	ABCC2	10	99811599	Missense_Mutation	SNP	G	C3N-00175_TP	2221509	99811599	33985823	823	10973											
PDZD7	0	.	GRCh38	chr10	101023987	101023987	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggccatgctctgagcccCcgcgcacgctgaagcccagc	7	4	11	19	3	1	2	0	2	1	0	1	2	1	2	5	1	4	3	5	1	1	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.308G>T	p.Gly103Val	p.G103V	ENST00000619208	3/17	323	251	72	505	505	0	strelka-varscan-mutect	PDZD7,missense_variant,p.Gly103Val,ENST00000619208,NM_001195263.1;PDZD7,missense_variant,p.Gly103Val,ENST00000370215,NM_024895.4;PDZD7,missense_variant,p.Gly103Val,ENST00000470414,;PDZD7,missense_variant,p.Gly103Val,ENST00000474125,;PDZD7,non_coding_transcript_exon_variant,,ENST00000476306,;	A	ENST00000619208	Transcript	missense_variant	558/4135	308/3102	103/1033	G/V	gGg/gTg		1		-1	PDZD7	HGNC	HGNC:26257	protein_coding	YES	CCDS73182.1	ENSP00000480489	Q9H5P4		UPI0001D15DE5	NM_001195263.1	deleterious(0)		3/17		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR23116,hmmpanther:PTHR23116:SF29,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	101023987	101023987	C	A	1	0	0	0	0	1	0	0	0	11792	623	22	2		2	PDZD7	10	101023987	Missense_Mutation	SNP	C	C3N-00175_TP	1212388	101023987	32773435	824	10974											
WBP1L	0	.	GRCh38	chr10	102813330	102813330	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcagcagctcccccagctAgagcaggtcctgccagcacc	9	4	11	17	0	0	1	0	0	0	1	2	2	2	1	5	1	7	6	5	1	1	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1091A>G	p.Ter364TrpextTer24	p.*364Wext*24	ENST00000448841	4/4	55	48	7	75	75	0	strelka-varscan-mutect	WBP1L,stop_lost,p.Ter343TrpextTer24,ENST00000369889,NM_017787.4;WBP1L,stop_lost,p.Ter364TrpextTer24,ENST00000448841,NM_001083913.1;	G	ENST00000448841	Transcript	stop_lost	1175/4085	1091/1092	364/363	*/W	tAg/tGg		1		1	WBP1L	HGNC	HGNC:23510	protein_coding	YES	CCDS44473.1	ENSP00000414721	Q9NX94		UPI0000EE3B72	NM_001083913.1			4/4																			HIGH	1	SNV	2			1										PASS		.	.												G	4	3	39	102813330	102813330	A	G	1	0	0	0	0	0	0	0	0	17819	433	15	5		5	WBP1L	10	102813330	Nonstop_Mutation	SNP	A	C3N-00175_TP	1789343	102813330	30984092	825	10975											
CFAP58	0	.	GRCh38	chr10	104362088	104362088	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagaaggccaaggagacGattcttgctctgaaagagga	14	6	14	7	1	2	4	0	1	2	3	2	8	2	5	1	3	2	2	1	3	3	2	rs535940421		C3N-00175_TP	C3N-00175_NB	G	G																c.357G>T	p.=	p.T119T	ENST00000369704	3/18	110	84	26	159	159	0	strelka-varscan-mutect	CFAP58,synonymous_variant,p.=,ENST00000369704,NM_001008723.1;	T	ENST00000369704	Transcript	synonymous_variant	491/3313	357/2619	119/872	T	acG/acT	rs535940421	1		1	CFAP58	HGNC	HGNC:26676	protein_coding	YES	CCDS31282.1	ENSP00000358718	Q5T655		UPI0000160405	NM_001008723.1			3/18		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF31																	LOW	1	SNV	1			1										PASS		rs535940421	.												T	2	4	39	104362088	104362088	G	T	1	0	0	0	0	0	0	0	1	3027	1045	37	1		1	CFAP58	10	104362088	Silent	SNP	G	C3N-00175_TP	1548758	104362088	29435334	826	10976											
ATRNL1	0	.	GRCh38	chr10	115129433	115129433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaatactggaagggtgaaGcttgtgatattccttactgt	12	14	10	5	0	0	2	0	2	0	0	1	3	1	3	1	2	3	1	1	2	7	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.727G>T	p.Ala243Ser	p.A243S	ENST00000355044	5/29	188	159	29	217	216	1	strelka-varscan-mutect	ATRNL1,missense_variant,p.Ala243Ser,ENST00000355044,NM_207303.4;ATRNL1,missense_variant,p.Ala243Ser,ENST00000609571,NM_001276282.3;ATRNL1,missense_variant,p.Ala243Ser,ENST00000527407,;ATRNL1,missense_variant,p.Ala176Ser,ENST00000526946,;ATRNL1,3_prime_UTR_variant,,ENST00000616894,;	T	ENST00000355044	Transcript	missense_variant	853/8479	727/4140	243/1379	A/S	Gct/Tct		1		1	ATRNL1	HGNC	HGNC:29063	protein_coding	YES	CCDS7592.1	ENSP00000347152	Q5VV63		UPI000021CCF8	NM_207303.4	tolerated(0.1)		5/29		PROSITE_profiles:PS50026,hmmpanther:PTHR10574:SF224,hmmpanther:PTHR10574,PROSITE_patterns:PS00022,Gene3D:2gy5A03,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	115129433	115129433	G	T	1	0	0	0	0	1	0	0	0	1360	971	34	2		2	ATRNL1	10	115129433	Missense_Mutation	SNP	G	C3N-00175_TP	10767345	115129433	18667989	827	10977											
SLC18A2	0	.	GRCh38	chr10	117255649	117255649	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggacccgtacatcctcaTtgctgcaggtggggctctgt	7	10	13	11	1	2	0	1	0	1	0	3	2	3	1	2	4	3	4	2	4	2	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.887T>A	p.Ile296Asn	p.I296N	ENST00000298472	9/16	79	67	12	112	112	0	strelka-varscan-mutect	SLC18A2,missense_variant,p.Ile296Asn,ENST00000298472,NM_003054.4;SLC18A2,non_coding_transcript_exon_variant,,ENST00000497497,;	A	ENST00000298472	Transcript	missense_variant	1030/3852	887/1545	296/514	I/N	aTt/aAt		1		1	SLC18A2	HGNC	HGNC:10935	protein_coding	YES	CCDS7599.1	ENSP00000298472	Q05940		UPI00001389DE	NM_003054.4	deleterious(0)		9/16		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR23506,hmmpanther:PTHR23506:SF8,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	117255649	117255649	T	A	1	0	0	0	0	1	0	0	0	14691	1493	52	4		4	SLC18A2	10	117255649	Missense_Mutation	SNP	T	C3N-00175_TP	2126216	117255649	16541773	828	10978											
PLPP4	0	.	GRCh38	chr10	120521039	120521039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcggaaatgcattgcacagGtgaccccgatctggtgtccg	8	9	12	12	3	1	1	0	1	1	0	3	3	2	2	3	3	2	2	3	3	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.389G>T	p.Gly130Val	p.G130V	ENST00000398250	5/7	158	124	34	191	190	1	strelka-varscan-mutect	PLPP4,missense_variant,p.Gly130Val,ENST00000398250,NM_001030059.1;PLPP4,missense_variant,p.Gly120Val,ENST00000369073,;PLPP4,missense_variant,p.Gly130Val,ENST00000427079,;	T	ENST00000398250	Transcript	missense_variant	741/1521	389/816	130/271	G/V	gGt/gTt		1		1	PLPP4	HGNC	HGNC:23531	protein_coding	YES	CCDS41573.1	ENSP00000381302	Q5VZY2		UPI00001619F5	NM_001030059.1	deleterious(0)		5/7		hmmpanther:PTHR10165,hmmpanther:PTHR10165:SF90,Pfam_domain:PF01569,Gene3D:1.20.144.10,SMART_domains:SM00014,Superfamily_domains:SSF48317																	MODERATE	1	SNV	1			1										PASS		rs1303568016	.												T	3	4	39	120521039	120521039	G	T	1	0	0	0	0	1	0	0	0	12205	1261	44	2		2	PLPP4	10	120521039	Missense_Mutation	SNP	G	C3N-00175_TP	3265390	120521039	13276383	829	10979											
TEX36	0	.	GRCh38	chr10	125682946	125682946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcttccttacccatctcCcatccttgtctgaaggtggg	6	13	7	15	0	3	1	0	1	3	0	6	1	5	1	5	2	1	0	5	2	2	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.44G>A	p.Gly15Glu	p.G15E	ENST00000368821	1/4	216	186	30	251	251	0	strelka-varscan-mutect	TEX36,missense_variant,p.Gly15Glu,ENST00000368821,NM_001128202.1;TEX36,missense_variant,p.Gly15Glu,ENST00000532135,NM_001318133.1;TEX36,missense_variant,p.Gly15Glu,ENST00000526819,;RP11-383C5.3,upstream_gene_variant,,ENST00000415305,;RP11-383C5.3,upstream_gene_variant,,ENST00000596068,;RP11-383C5.3,upstream_gene_variant,,ENST00000449693,;RP11-383C5.3,upstream_gene_variant,,ENST00000607914,;	T	ENST00000368821	Transcript	missense_variant	199/922	44/561	15/186	G/E	gGg/gAg		1		-1	TEX36	HGNC	HGNC:31653	protein_coding	YES	CCDS44493.1	ENSP00000357811	Q5VZQ5		UPI00001D808E	NM_001128202.1	deleterious(0.03)		1/4		Pfam_domain:PF15115,hmmpanther:PTHR35440,hmmpanther:PTHR35440:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	125682946	125682946	C	T	1	0	0	0	0	1	0	0	0	16212	623	22	3		3	TEX36	10	125682946	Missense_Mutation	SNP	C	C3N-00175_TP	5161907	125682946	8114476	830	10980											
MKI67	0	.	GRCh38	chr10	128104695	128104695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccatggctttgcctgctGatggtgttcgtttcctgagt	3	17	12	9	1	0	2	0	2	0	0	3	2	2	2	3	2	2	4	3	2	0	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.7145C>T	p.Ser2382Leu	p.S2382L	ENST00000368654	13/15	192	160	32	223	223	0	strelka-varscan-mutect	MKI67,missense_variant,p.Ser2382Leu,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Ser2022Leu,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;	A	ENST00000368654	Transcript	missense_variant	7521/12678	7145/9771	2382/3256	S/L	tCa/tTa		1		-1	MKI67	HGNC	HGNC:7107	protein_coding	YES	CCDS7659.1	ENSP00000357643	P46013		UPI000013DB54	NM_002417.4	tolerated(0.11)		13/15		Pfam_domain:PF08065,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,SMART_domains:SM01295																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	128104695	128104695	G	A	1	0	0	0	0	1	0	0	0	9566	1294	45	3		3	MKI67	10	128104695	Missense_Mutation	SNP	G	C3N-00175_TP	2421749	128104695	5692727	831	10981											
ZNF511	0	.	GRCh38	chr10	133309785	133309785	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttggcagggtgcccgcGtttgcctgccaggtggccgg	2	9	16	14	3	0	0	0	0	0	0	1	0	1	0	5	5	3	2	5	5	0	2			C3N-00175_TP	C3N-00175_NB	G	G																c.237G>T	p.=	p.A79A	ENST00000361518	3/6	195	171	24	283	283	0	strelka-varscan-mutect	ZNF511,synonymous_variant,p.=,ENST00000359035,;ZNF511,synonymous_variant,p.=,ENST00000361518,NM_145806.3;ZNF511-PRAP1,synonymous_variant,p.=,ENST00000368554,;TUBGCP2,upstream_gene_variant,,ENST00000543663,NM_001256617.1;TUBGCP2,upstream_gene_variant,,ENST00000368563,NM_006659.3;TUBGCP2,upstream_gene_variant,,ENST00000417178,NM_001256618.1;ZNF511,intron_variant,,ENST00000463816,;TUBGCP2,upstream_gene_variant,,ENST00000470829,;ZNF511,non_coding_transcript_exon_variant,,ENST00000482153,;TUBGCP2,intron_variant,,ENST00000482278,;TUBGCP2,upstream_gene_variant,,ENST00000480198,;TUBGCP2,upstream_gene_variant,,ENST00000487796,;	T	ENST00000361518	Transcript	synonymous_variant	706/1520	237/759	79/252	A	gcG/gcT	COSM1179154,COSM1492162	1		1	ZNF511	HGNC	HGNC:28445	protein_coding	YES	CCDS7677.1	ENSP00000355251	Q8NB15		UPI000006FF8A	NM_145806.3			3/6		hmmpanther:PTHR21354,hmmpanther:PTHR21354:SF0											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1220991097	.												T	2	4	39	133309785	133309785	G	T	1	0	0	0	0	0	0	0	1	18527	1132	40	1		1	ZNF511	10	133309785	Silent	SNP	G	C3N-00175_TP	5205090	133309785	487637	832	10982											
RNH1	0	.	GRCh38	chr11	498887	498887	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttggaggccacaatgcCgcacaggtcccggcagttgt	7	7	14	13	2	0	0	0	0	0	0	1	1	1	1	4	5	1	3	4	5	1	2	rs746243454		C3N-00175_TP	C3N-00175_NB	C	C																c.661G>C	p.Gly221Arg	p.G221R	ENST00000534797	5/9	84	73	11	199	199	0	strelka-varscan-mutect	RNH1,missense_variant,p.Gly221Arg,ENST00000534797,;RNH1,missense_variant,p.Gly221Arg,ENST00000397615,NM_203383.1,NM_002939.3;RNH1,missense_variant,p.Gly221Arg,ENST00000354420,NM_203387.2;RNH1,missense_variant,p.Gly221Arg,ENST00000397614,NM_203385.1;RNH1,missense_variant,p.Gly221Arg,ENST00000533410,NM_203386.2;RNH1,missense_variant,p.Gly221Arg,ENST00000356187,NM_203389.2;RNH1,missense_variant,p.Gly221Arg,ENST00000438658,NM_203384.1;RNH1,missense_variant,p.Gly221Arg,ENST00000397604,NM_203388.2;RNH1,missense_variant,p.Gly15Arg,ENST00000529768,;RNH1,downstream_gene_variant,,ENST00000527485,;RNH1,downstream_gene_variant,,ENST00000529306,;RNH1,downstream_gene_variant,,ENST00000529368,;RNH1,downstream_gene_variant,,ENST00000531149,;RNH1,downstream_gene_variant,,ENST00000532055,;RNH1,downstream_gene_variant,,ENST00000531540,;RNH1,downstream_gene_variant,,ENST00000533592,;RNH1,downstream_gene_variant,,ENST00000526295,;RNH1,3_prime_UTR_variant,,ENST00000525701,;RNH1,3_prime_UTR_variant,,ENST00000529115,;RNH1,non_coding_transcript_exon_variant,,ENST00000525522,;RNH1,intron_variant,,ENST00000524464,;RNH1,downstream_gene_variant,,ENST00000528713,;RNH1,downstream_gene_variant,,ENST00000524780,;RNH1,downstream_gene_variant,,ENST00000531223,;	G	ENST00000534797	Transcript	missense_variant	2069/2973	661/1386	221/461	G/R	Ggc/Cgc	rs746243454	1		-1	RNH1	HGNC	HGNC:10074	protein_coding	YES	CCDS7697.1	ENSP00000433999	P13489	A0A140VJT8	UPI0000000DE4		tolerated(0.23)		5/9		hmmpanther:PTHR24112:SF30,hmmpanther:PTHR24112,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		rs746243454	.												G	3	3	39	498887	498887	C	G	1	0	0	0	0	1	0	0	0	13684	652	23	4		4	RNH1	11	498887	Missense_Mutation	SNP	C	C3N-00175_TP		498887	134587735	833	10983											
MUC6	0	.	GRCh38	chr11	1027408	1027408	+	Frame_Shift_Del	DEL	G	G	-																															gggcagttgcaaccgtccacGggcacggcgctgtggtggca																								rs375495192		C3N-00175_TP	C3N-00175_NB	G	G																c.2091delC	p.Val698TrpfsTer12	p.V698Wfs*12	ENST00000421673	17/33	436	378	58	669	669	0	sindel-varindel-pindel	MUC6,frameshift_variant,p.Val698TrpfsTer12,ENST00000421673,NM_005961.2;MUC6,downstream_gene_variant,,ENST00000525923,;	-	ENST00000421673	Transcript	frameshift_variant	2142/8006	2091/7320	697/2439	P/X	ccC/cc	rs375495192	1		-1	MUC6	HGNC	HGNC:7517	protein_coding	YES	CCDS44513.1	ENSP00000406861	Q6W4X9		UPI0000251DBE	NM_005961.2			17/33		hmmpanther:PTHR11339:SF264,hmmpanther:PTHR11339,Gene3D:2.10.25.10,Pfam_domain:PF01826,Superfamily_domains:SSF57567																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	39	1027408	1027408	G	-	1	0	1	0	1	0	0	0	0	9980	1103	39	0		0	MUC6	11	1027408	Frame_Shift_Del	DEL	G	C3N-00175_TP	528521	1027408	134059214	834	10984											
MUC5AC	0	.	GRCh38	chr11	1187874	1187874	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcccctggaccccacggCggggacaaggaaacctacaa	12	3	10	16	2	0	0	0	0	0	0	1	3	1	3	6	5	2	0	6	5	4	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.9729C>A	p.=	p.G3243G	ENST00000621226	31/49	71	64	7	105	104	1	varscan-mutect	MUC5AC,synonymous_variant,p.=,ENST00000621226,NM_001304359.1;	A	ENST00000621226	Transcript	synonymous_variant	9776/17448	9729/16965	3243/5654	G	ggC/ggA		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1			31/49		Pfam_domain:PF13330																	LOW	1	SNV	5			1										PASS		rs73395695	.												A	2	1	39	1187874	1187874	C	A	1	0	0	0	0	0	0	0	1	9978	755	27	1		1	MUC5AC	11	1187874	Silent	SNP	C	C3N-00175_TP	160466	1187874	133898748	835	10985											
C11orf21	0	.	GRCh38	chr11	2299533	2299533	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctgcttctaagtccaagtCccatcccagccggatagcca	9	8	8	16	1	1	0	0	0	1	0	4	1	4	1	6	1	3	1	6	1	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.460G>T	p.Asp154Tyr	p.D154Y	ENST00000456145	4/5	308	240	68	445	444	1	strelka-varscan-mutect	C11orf21,missense_variant,p.Asp108Tyr,ENST00000381153,;C11orf21,missense_variant,p.Asp154Tyr,ENST00000456145,NM_001142946.1;TSPAN32,upstream_gene_variant,,ENST00000182290,NM_139022.2;TSPAN32,upstream_gene_variant,,ENST00000612299,;TSPAN32,upstream_gene_variant,,ENST00000451520,;TSPAN32,upstream_gene_variant,,ENST00000381121,;TSPAN32,upstream_gene_variant,,ENST00000381117,;C11orf21,non_coding_transcript_exon_variant,,ENST00000470369,;C11orf21,non_coding_transcript_exon_variant,,ENST00000495467,;TSPAN32,upstream_gene_variant,,ENST00000483227,;TSPAN32,upstream_gene_variant,,ENST00000479508,;TSPAN32,upstream_gene_variant,,ENST00000461200,;TSPAN32,upstream_gene_variant,,ENST00000493924,;TSPAN32,upstream_gene_variant,,ENST00000446063,;TSPAN32,upstream_gene_variant,,ENST00000339046,;TSPAN32,upstream_gene_variant,,ENST00000498313,;TSPAN32,upstream_gene_variant,,ENST00000437313,;TSPAN32,upstream_gene_variant,,ENST00000484104,;TSPAN32,upstream_gene_variant,,ENST00000493948,;	A	ENST00000456145	Transcript	missense_variant	512/1366	460/537	154/178	D/Y	Gac/Tac		1		-1	C11orf21	HGNC	HGNC:13231	protein_coding	YES	CCDS44518.1	ENSP00000406541		E9PAM5	UPI0000DD806C	NM_001142946.1	deleterious_low_confidence(0.02)		4/5		Pfam_domain:PF15399																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	2299533	2299533	C	A	1	0	0	0	0	1	0	0	0	1778	855	30	2		2	C11orf21	11	2299533	Missense_Mutation	SNP	C	C3N-00175_TP	1111659	2299533	132787089	836	10986											
TRPM5	0	.	GRCh38	chr11	2422174	2422174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccttcaccagccccttgcGcagcacatcccgcagccagg	7	5	9	20	3	1	0	1	0	0	0	2	0	2	0	6	1	4	3	6	1	0	2	rs774051811		C3N-00175_TP	C3N-00175_NB	G	G																c.265C>T	p.Arg89Cys	p.R89C	ENST00000155858	2/24	74	63	11	119	119	0	strelka-varscan-mutect	TRPM5,missense_variant,p.Arg89Cys,ENST00000155858,NM_014555.3;TRPM5,missense_variant,p.Arg81Cys,ENST00000533881,;TRPM5,missense_variant,p.Arg89Cys,ENST00000533060,;TRPM5,missense_variant,p.Arg89Cys,ENST00000528453,;	A	ENST00000155858	Transcript	missense_variant	274/3929	265/3498	89/1165	R/C	Cgc/Tgc	rs774051811	1		-1	TRPM5	HGNC	HGNC:14323	protein_coding	YES	CCDS31340.1	ENSP00000155858	Q9NZQ8		UPI000003B069	NM_014555.3	deleterious(0)		2/24		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF5																	MODERATE	1	SNV	1			1										PASS		rs774051811	.												A	3	1	39	2422174	2422174	G	A	1	0	0	0	0	1	0	0	0	17095	1087	38	1		1	TRPM5	11	2422174	Missense_Mutation	SNP	G	C3N-00175_TP	122641	2422174	132664448	837	10987											
SLC22A18AS	0	.	GRCh38	chr11	2888582	2888582	+	Frame_Shift_Del	DEL	C	C	-																															ggccagatggaggctgcagaCcctgcggggccatcaggaga																								rs761662285		C3N-00175_TP	C3N-00175_NB	C	C																c.360delG	p.Ser121LeufsTer47	p.S121Lfs*47	ENST00000625099	4/4	126	99	27	242	242	0	sindel-varindel-pindel	SLC22A18AS,frameshift_variant,p.Ser121LeufsTer47,ENST00000625099,NM_007105.3;SLC22A18AS,frameshift_variant,p.Ser18LeufsTer47,ENST00000455942,NM_001302862.1;SLC22A18AS,frameshift_variant,p.Ser18LeufsTer47,ENST00000526203,;CDKN1C,upstream_gene_variant,,ENST00000414822,NM_000076.2;CDKN1C,upstream_gene_variant,,ENST00000440480,NM_001122630.1,NM_001122631.1;CDKN1C,upstream_gene_variant,,ENST00000430149,;CDKN1C,upstream_gene_variant,,ENST00000380725,;CDKN1C,upstream_gene_variant,,ENST00000471157,;	-	ENST00000625099	Transcript	frameshift_variant	857/1659	360/762	120/253	G/X	ggG/gg	rs761662285	1		-1	SLC22A18AS	HGNC	HGNC:10965	protein_coding	YES		ENSP00000487968	Q8N1D0		UPI000013FBB8	NM_007105.3			4/4																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	39	2888582	2888582	C	-	1	0	1	0	1	0	0	0	0	14715	494	18	0		0	SLC22A18AS	11	2888582	Frame_Shift_Del	DEL	C	C3N-00175_TP	466408	2888582	132198040	838	10988											
MRGPRG	0	.	GRCh38	chr11	3218205	3218205	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaagaagagcaggagcagCgcgcccaggacgatgccgta	13	2	15	11	4	0	3	0	0	0	3	0	6	0	5	2	2	4	3	2	2	3	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.609G>T	p.=	p.A203A	ENST00000332314	1/1	47	41	6	89	89	0	strelka-varscan-mutect	MRGPRG,synonymous_variant,p.=,ENST00000332314,NM_001164377.1;MRGPRG-AS1,upstream_gene_variant,,ENST00000420873,;MRGPRG-AS1,upstream_gene_variant,,ENST00000434798,;MRGPRG-AS1,upstream_gene_variant,,ENST00000531711,;	A	ENST00000332314	Transcript	synonymous_variant	609/870	609/870	203/289	A	gcG/gcT		1		-1	MRGPRG	HGNC	HGNC:24829	protein_coding	YES	CCDS44520.1	ENSP00000330612	Q86SM5		UPI0000047153	NM_001164377.1			1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF32,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR02108																	LOW		SNV				1										PASS		rs1407431621	.												A	2	1	39	3218205	3218205	C	A	1	0	0	0	0	0	0	0	1	9732	755	27	1		1	MRGPRG	11	3218205	Silent	SNP	C	C3N-00175_TP	329623	3218205	131868417	839	10989											
CHRNA10	0	.	GRCh38	chr11	3667336	3667336	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagcgacaccttctcgcctGagtcggcaggcaggtggaag	8	6	14	13	3	1	1	0	1	1	0	3	3	1	2	3	4	1	2	3	4	1	1	rs750393817		C3N-00175_TP	C3N-00175_NB	G	G																c.791C>G	p.Ser264Ter	p.S264*	ENST00000250699	4/5	280	211	69	296	296	0	strelka-varscan-mutect	CHRNA10,stop_gained,p.Ser264Ter,ENST00000250699,NM_020402.3;CHRNA10,missense_variant,p.Gln82Glu,ENST00000534359,NM_001303034.1,NM_001303035.1;ART1,downstream_gene_variant,,ENST00000250693,NM_004314.2;NUP98,downstream_gene_variant,,ENST00000533346,;Y_RNA,upstream_gene_variant,,ENST00000364409,;Y_RNA,upstream_gene_variant,,ENST00000363331,;CHRNA10,downstream_gene_variant,,ENST00000493827,;CHRNA10,3_prime_UTR_variant,,ENST00000526599,;	C	ENST00000250699	Transcript	stop_gained	863/1945	791/1353	264/450	S/*	tCa/tGa	rs750393817	1		-1	CHRNA10	HGNC	HGNC:13800	protein_coding	YES	CCDS7745.1	ENSP00000250699	Q9GZZ6		UPI0000038CF1	NM_020402.3			4/5		hmmpanther:PTHR18945:SF566,hmmpanther:PTHR18945,Gene3D:1.20.120.370,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112																	HIGH	1	SNV	1			1										PASS		rs750393817	.												C	4	2	39	3667336	3667336	G	C	1	0	0	0	0	0	1	0	0	3142	1303	45	4		4	CHRNA10	11	3667336	Nonsense_Mutation	SNP	G	C3N-00175_TP	449131	3667336	131419286	840	10990											
OR52J3	0	.	GRCh38	chr11	5047448	5047448	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaacgagtgctctatgtttTtactaaaaaataagactctt	15	14	6	6	1	2	2	0	0	2	2	2	3	2	2	0	0	3	2	0	0	7	7	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.923T>A	p.Phe308Tyr	p.F308Y	ENST00000380370	1/1	35	23	12	44	44	0	strelka-varscan-mutect	OR52J3,missense_variant,p.Phe308Tyr,ENST00000380370,NM_001001916.2;	A	ENST00000380370	Transcript	missense_variant	923/936	923/936	308/311	F/Y	tTt/tAt		1		1	OR52J3	HGNC	HGNC:14799	protein_coding	YES	CCDS31370.1	ENSP00000369728	Q8NH60		UPI0000046AE0	NM_001001916.2	deleterious(0)		1/1		hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF9,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	5047448	5047448	T	A	1	0	0	0	0	1	0	0	0	11195	1841	64	4		4	OR52J3	11	5047448	Missense_Mutation	SNP	T	C3N-00175_TP	1380112	5047448	130039174	841	10991											
OR51V1	0	.	GRCh38	chr11	5200070	5200070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagtatgcaaataaccaGcatcagggcatagtaactat	17	8	7	9	0	1	0	1	0	0	0	1	0	1	0	1	1	5	5	1	1	7	5			C3N-00175_TP	C3N-00175_NB	G	G																c.631C>A	p.Leu211Met	p.L211M	ENST00000321255	1/1	110	93	17	189	187	2	strelka-varscan-mutect	OR51V1,missense_variant,p.Leu211Met,ENST00000321255,NM_001004760.2;AC104389.16,upstream_gene_variant,,ENST00000418080,;	T	ENST00000321255	Transcript	missense_variant	631/966	631/966	211/321	L/M	Ctg/Atg	COSM4710007	1		-1	OR51V1	HGNC	HGNC:19597	protein_coding	YES	CCDS31375.1	ENSP00000321729	Q9H2C8		UPI0000140ADA	NM_001004760.2	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF67,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE		SNV			1	1										PASS		.	.												T	3	4	39	5200070	5200070	G	T	1	0	0	0	0	1	0	0	0	11181	962	34	2		2	OR51V1	11	5200070	Missense_Mutation	SNP	G	C3N-00175_TP	152622	5200070	129886552	842	10992											
OR51V1	0	.	GRCh38	chr11	5200477	5200477	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaggtcagtgagggccAgcatggacaggaagtaaaac	14	5	14	8	0	1	1	1	1	0	0	1	3	1	3	1	4	3	3	1	4	3	1	rs370530643		C3N-00175_TP	C3N-00175_NB	A	A																c.224T>A	p.Leu75Gln	p.L75Q	ENST00000321255	1/1	78	68	10	106	106	0	strelka-varscan-mutect	OR51V1,missense_variant,p.Leu75Gln,ENST00000321255,NM_001004760.2;AC104389.16,upstream_gene_variant,,ENST00000418080,;	T	ENST00000321255	Transcript	missense_variant	224/966	224/966	75/321	L/Q	cTg/cAg	rs370530643	1		-1	OR51V1	HGNC	HGNC:19597	protein_coding	YES	CCDS31375.1	ENSP00000321729	Q9H2C8		UPI0000140ADA	NM_001004760.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF67,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		rs370530643	.												T	3	4	39	5200477	5200477	A	T	1	0	0	0	0	1	0	0	0	11181	188	7	4		4	OR51V1	11	5200477	Missense_Mutation	SNP	A	C3N-00175_TP	407	5200477	129886145	843	10993											
HBD	0	.	GRCh38	chr11	5233080	5233080	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcacacacaccagcaCattgcccaagagctgcggag	12	3	11	15	1	0	1	0	0	0	1	0	2	0	2	3	2	5	3	3	2	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.328G>T	p.Val110Leu	p.V110L	ENST00000380299	3/3	384	321	63	476	476	0	strelka-varscan-mutect	HBD,missense_variant,p.Val110Leu,ENST00000380299,NM_000519.3;HBD,missense_variant,p.Met35Ile,ENST00000417377,;HBD,intron_variant,,ENST00000292901,;HBD,downstream_gene_variant,,ENST00000429817,;HBB,upstream_gene_variant,,ENST00000380315,;	A	ENST00000380299	Transcript	missense_variant	543/785	328/444	110/147	V/L	Gtg/Ttg		1		-1	HBD	HGNC	HGNC:4829	protein_coding	YES	CCDS31376.1	ENSP00000369654	P02042	A0N071	UPI0000161DC2	NM_000519.3	tolerated(0.11)		3/3		PROSITE_profiles:PS01033,hmmpanther:PTHR11442:SF50,hmmpanther:PTHR11442,Pfam_domain:PF00042,Gene3D:1.10.490.10,Superfamily_domains:SSF46458																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	5233080	5233080	C	A	1	0	0	0	0	1	0	0	0	6865	478	17	2		2	HBD	11	5233080	Missense_Mutation	SNP	C	C3N-00175_TP	32603	5233080	129853542	844	10994											
OR52E6	0	.	GRCh38	chr11	5841537	5841537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaatgtagcggtcaaaggCcatggccaccaatacgatgc	12	6	12	11	2	1	0	1	0	0	0	1	1	1	0	3	4	3	2	3	4	5	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.361G>T	p.Ala121Ser	p.A121S	ENST00000329322	1/1	88	65	23	112	112	0	strelka-varscan-mutect	OR52E6,missense_variant,p.Ala121Ser,ENST00000329322,NM_001005167.1;OR52E6,missense_variant,p.Ala125Ser,ENST00000379946,;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	A	ENST00000329322	Transcript	missense_variant	361/970	361/942	121/313	A/S	Gcc/Tcc		1		-1	OR52E6	HGNC	HGNC:15215	protein_coding	YES	CCDS53597.1	ENSP00000328878	Q96RD3	A0A126GVK5	UPI00000015AE	NM_001005167.1	deleterious(0.03)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF175,hmmpanther:PTHR26450,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	5841537	5841537	C	A	1	0	0	0	0	1	0	0	0	11190	739	26	2		2	OR52E6	11	5841537	Missense_Mutation	SNP	C	C3N-00175_TP	608457	5841537	129245085	845	10995											
SMPD1	0	.	GRCh38	chr11	6394325	6394325	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataccgcactggcagcttctCtacagggctcgagaaaccta	11	8	9	13	2	1	1	0	0	1	1	3	2	1	1	2	2	4	4	2	2	4	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1614C>T	p.=	p.L538L	ENST00000342245	6/6	117	105	12	151	151	0	strelka-varscan-mutect	SMPD1,synonymous_variant,p.=,ENST00000342245,NM_001318087.1,NM_000543.4;SMPD1,synonymous_variant,p.=,ENST00000527275,NM_001007593.2;SMPD1,synonymous_variant,p.=,ENST00000526280,;APBB1,downstream_gene_variant,,ENST00000389906,;APBB1,downstream_gene_variant,,ENST00000609360,NM_001164.4;APBB1,downstream_gene_variant,,ENST00000299402,;APBB1,downstream_gene_variant,,ENST00000311051,NM_145689.2;APBB1,downstream_gene_variant,,ENST00000610474,;APBB1,downstream_gene_variant,,ENST00000608394,NM_001257321.2;APBB1,downstream_gene_variant,,ENST00000618005,;APBB1,downstream_gene_variant,,ENST00000608704,NM_001257320.2;APBB1,downstream_gene_variant,,ENST00000608645,NM_001257326.2;APBB1,downstream_gene_variant,,ENST00000608655,NM_001257319.2;APBB1,downstream_gene_variant,,ENST00000621678,;APBB1,downstream_gene_variant,,ENST00000530885,NM_001257323.2;APBB1,downstream_gene_variant,,ENST00000609331,NM_001257325.2;APBB1,downstream_gene_variant,,ENST00000529519,;SMPD1,downstream_gene_variant,,ENST00000530395,;APBB1,downstream_gene_variant,,ENST00000526240,;SMPD1,downstream_gene_variant,,ENST00000533196,;SMPD1,3_prime_UTR_variant,,ENST00000534405,NM_001318088.1;SMPD1,3_prime_UTR_variant,,ENST00000533123,;SMPD1,3_prime_UTR_variant,,ENST00000531303,;SMPD1,non_coding_transcript_exon_variant,,ENST00000531336,;APBB1,downstream_gene_variant,,ENST00000608435,;APBB1,downstream_gene_variant,,ENST00000524626,;SMPD1,downstream_gene_variant,,ENST00000532367,;	T	ENST00000342245	Transcript	synonymous_variant	1782/2452	1614/1896	538/631	L	ctC/ctT		1		1	SMPD1	HGNC	HGNC:11120	protein_coding	YES	CCDS44531.1	ENSP00000340409	P17405		UPI000013E592	NM_001318087.1,NM_000543.4			6/6		PIRSF_domain:PIRSF000948,hmmpanther:PTHR10340,hmmpanther:PTHR10340:SF34																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	6394325	6394325	C	T	1	0	0	0	0	0	0	0	1	15125	900	32	3		3	SMPD1	11	6394325	Silent	SNP	C	C3N-00175_TP	552788	6394325	128692297	846	10996											
TRIM66	0	.	GRCh38	chr11	8621223	8621223	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaggagatgtgccctcCacttctggtggccgctgccc	4	11	11	15	1	3	1	1	0	2	1	4	2	4	1	4	3	2	1	4	3	0	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2913G>A	p.=	p.V971V	ENST00000402157	17/22	259	202	57	314	314	0	strelka-varscan-mutect	TRIM66,synonymous_variant,p.=,ENST00000402157,;TRIM66,synonymous_variant,p.=,ENST00000299550,NM_014818.1;TRIM66,synonymous_variant,p.=,ENST00000530502,;TRIM66,non_coding_transcript_exon_variant,,ENST00000481014,;TRIM66,upstream_gene_variant,,ENST00000529211,;TRIM66,upstream_gene_variant,,ENST00000525788,;	T	ENST00000402157	Transcript	synonymous_variant	3354/10086	2913/3738	971/1245	V	gtG/gtA		1		-1	TRIM66	HGNC	HGNC:29005	protein_coding	YES		ENSP00000384876		B5MCJ9	UPI00016113E8				17/22																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	39	8621223	8621223	C	T	1	0	0	0	0	0	0	0	1	17035	581	21	3		3	TRIM66	11	8621223	Silent	SNP	C	C3N-00175_TP	2226898	8621223	126465399	847	10997											
NRIP3	0	.	GRCh38	chr11	9003839	9003839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccttgtggatgaactgcaCcgcctgcttcatccggcgct	5	11	11	14	3	1	1	1	1	0	0	3	2	3	2	4	2	3	3	4	2	1	2	rs779140807		C3N-00175_TP	C3N-00175_NB	C	C																c.97G>T	p.Val33Leu	p.V33L	ENST00000309166	1/7	119	90	29	177	177	0	strelka-varscan-mutect	NRIP3,missense_variant,p.Val33Leu,ENST00000309166,NM_020645.2;NRIP3,missense_variant,p.Val33Leu,ENST00000531090,;NRIP3,missense_variant,p.Val33Leu,ENST00000525100,;RP11-467K18.2,upstream_gene_variant,,ENST00000531592,;	A	ENST00000309166	Transcript	missense_variant	211/3809	97/726	33/241	V/L	Gtg/Ttg	rs779140807	1		-1	NRIP3	HGNC	HGNC:1167	protein_coding	YES	CCDS31422.1	ENSP00000310205	Q9NQ35		UPI000004B7A9	NM_020645.2	deleterious(0.03)		1/7		hmmpanther:PTHR12917:SF2,hmmpanther:PTHR12917																	MODERATE	1	SNV	1			1										PASS		rs779140807	.												A	3	1	39	9003839	9003839	C	A	1	0	0	0	0	1	0	0	0	10712	507	18	2		2	NRIP3	11	9003839	Missense_Mutation	SNP	C	C3N-00175_TP	382616	9003839	126082783	848	10998											
DKK3	0	.	GRCh38	chr11	12008474	12008474	+	Frame_Shift_Del	DEL	C	C	-																															ctcctgcgggtagctgagagCcgggccgggcttgactggag																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.109delG	p.Ala37LeufsTer21	p.A37Lfs*21	ENST00000396505	2/8	156	146	10	198	198	0	sindel-varindel-pindel	DKK3,frameshift_variant,p.Ala37LeufsTer21,ENST00000396505,NM_015881.5;DKK3,frameshift_variant,p.Ala37LeufsTer21,ENST00000326932,NM_001018057.1,NM_013253.4;DKK3,frameshift_variant,p.Ala37LeufsTer21,ENST00000525493,;DKK3,frameshift_variant,p.Ala37LeufsTer21,ENST00000533813,;DKK3,frameshift_variant,p.Ala37LeufsTer21,ENST00000534511,;DKK3,frameshift_variant,p.Ala37LeufsTer21,ENST00000529338,;DKK3,non_coding_transcript_exon_variant,,ENST00000527132,;DKK3,non_coding_transcript_exon_variant,,ENST00000526218,;DKK3,non_coding_transcript_exon_variant,,ENST00000533900,;DKK3,non_coding_transcript_exon_variant,,ENST00000530694,;DKK3,intron_variant,,ENST00000532873,;DKK3,non_coding_transcript_exon_variant,,ENST00000534479,;	-	ENST00000396505	Transcript	frameshift_variant	348/2650	109/1053	37/350	A/X	Gct/ct		1		-1	DKK3	HGNC	HGNC:2893	protein_coding	YES	CCDS7808.1	ENSP00000379762	Q9UBP4		UPI00001694CA	NM_015881.5			2/8																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	39	12008474	12008474	C	-	1	0	1	0	1	0	0	0	0	4352	739	26	0		0	DKK3	11	12008474	Frame_Shift_Del	DEL	C	C3N-00175_TP	3004635	12008474	123078148	849	10999											
COPB1	0	.	GRCh38	chr11	14480853	14480853	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttgtcagtatcttcaTgctcagacacattatttgtt	9	19	6	7	0	4	1	3	0	1	1	4	1	4	1	0	0	1	4	0	0	3	7	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1118A>G	p.His373Arg	p.H373R	ENST00000249923	10/22	151	128	23	228	228	0	strelka-varscan-mutect	COPB1,missense_variant,p.His373Arg,ENST00000249923,NM_016451.4;COPB1,missense_variant,p.His373Arg,ENST00000439561,NM_001144061.1,NM_001144062.1;COPB1,missense_variant,p.His373Arg,ENST00000534234,;RNU7-49P,downstream_gene_variant,,ENST00000516182,;COPB1,upstream_gene_variant,,ENST00000526191,;	C	ENST00000249923	Transcript	missense_variant	1419/3481	1118/2862	373/953	H/R	cAt/cGt		1		-1	COPB1	HGNC	HGNC:2231	protein_coding	YES	CCDS7815.1	ENSP00000249923	P53618		UPI000000103D	NM_016451.4	tolerated(0.41)		10/22		hmmpanther:PTHR10635,Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF005727,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	14480853	14480853	T	C	1	0	0	0	0	1	0	0	0	3520	1464	51	5		5	COPB1	11	14480853	Missense_Mutation	SNP	T	C3N-00175_TP	2472379	14480853	120605769	850	11000											
PDE3B	0	.	GRCh38	chr11	14843981	14843981	+	Missense_Mutation	SNP	C	C	A																															gccatgcatgattatgatcaCccagggaggacaaatgcatt																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2475C>A	p.His825Gln	p.H825Q	ENST00000282096	12/16	178	147	31	221	221	0	strelka-varscan-mutect	PDE3B,missense_variant,p.His825Gln,ENST00000282096,NM_000922.3;PDE3B,missense_variant,p.His774Gln,ENST00000455098,;	A	ENST00000282096	Transcript	missense_variant	2828/6076	2475/3339	825/1112	H/Q	caC/caA		1		1	PDE3B	HGNC	HGNC:8779	protein_coding	YES	CCDS7817.1	ENSP00000282096	Q13370		UPI000013DCB7	NM_000922.3	deleterious(0)		12/16		Gene3D:1.10.1300.10,Pfam_domain:PF00233,PROSITE_patterns:PS00126,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF29,SMART_domains:SM00471,Superfamily_domains:SSF109604																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	14843981	14843981	C	A	1	0	0	0	0	1	0	0	0	11726	506	18	2		2	PDE3B	11	14843981	Missense_Mutation	SNP	C	C3N-00175_TP	363128	14843981	120242641	851	11001	249	2									
PDE3B	0	.	GRCh38	chr11	14843982	14843982	+	Missense_Mutation	SNP	C	C	A																															ccatgcatgattatgatcacCcagggaggacaaatgcattt																										C3N-00175_TP	C3N-00175_NB	C	C																c.2476C>A	p.Pro826Thr	p.P826T	ENST00000282096	12/16	177	145	32	221	221	0	strelka-varscan-mutect	PDE3B,missense_variant,p.Pro826Thr,ENST00000282096,NM_000922.3;PDE3B,missense_variant,p.Pro775Thr,ENST00000455098,;	A	ENST00000282096	Transcript	missense_variant	2829/6076	2476/3339	826/1112	P/T	Cca/Aca	COSM2090851,COSM5263327	1		1	PDE3B	HGNC	HGNC:8779	protein_coding	YES	CCDS7817.1	ENSP00000282096	Q13370		UPI000013DCB7	NM_000922.3	deleterious(0)		12/16		Gene3D:1.10.1300.10,Pfam_domain:PF00233,PROSITE_patterns:PS00126,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF29,SMART_domains:SM00471,Superfamily_domains:SSF109604											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	39	14843982	14843982	C	A	1	0	0	0	0	1	0	0	0	11726	623	22	2		2	PDE3B	11	14843982	Missense_Mutation	SNP	C	C3N-00175_TP	1	14843982	120242640	852	11002	249	2									
LUZP2	0	.	GRCh38	chr11	25078572	25078572	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaattgcaaatgcctcctTgctctgaatgtgaggtgaaa	13	11	10	7	0	1	4	0	3	1	1	2	4	2	4	2	1	3	2	2	1	4	2			C3N-00175_TP	C3N-00175_NB	T	T																c.955T>A	p.Cys319Ser	p.C319S	ENST00000336930	12/12	123	94	29	187	187	0	strelka-varscan-mutect	LUZP2,missense_variant,p.Cys233Ser,ENST00000533227,NM_001252008.1;LUZP2,missense_variant,p.Cys233Ser,ENST00000620308,;LUZP2,missense_variant,p.Cys319Ser,ENST00000336930,NM_001252010.1,NM_001009909.3;	A	ENST00000336930	Transcript	missense_variant	1021/3553	955/1041	319/346	C/S	Tgc/Agc	COSM3446430	1		1	LUZP2	HGNC	HGNC:23206	protein_coding	YES	CCDS31446.1	ENSP00000336817	Q86TE4		UPI000019816C	NM_001252010.1,NM_001009909.3	tolerated_low_confidence(0.09)		12/12		hmmpanther:PTHR22414											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	39	25078572	25078572	T	A	1	0	0	0	0	1	0	0	0	8996	1812	63	4		4	LUZP2	11	25078572	Missense_Mutation	SNP	T	C3N-00175_TP	10234590	25078572	110008050	853	11003											
MPPED2	0	.	GRCh38	chr11	30536036	30536036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctctgagggcagtcccaGctcggtgaaatcgcctgtgt	8	9	12	12	2	1	2	0	2	1	0	4	2	2	2	3	2	2	2	3	2	2	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.268C>T	p.=	p.L90L	ENST00000358117	2/6	82	63	19	68	67	1	strelka-varscan-mutect	MPPED2,synonymous_variant,p.=,ENST00000448418,NM_001145399.1;MPPED2,synonymous_variant,p.=,ENST00000358117,NM_001584.2;MPPED2,downstream_gene_variant,,ENST00000528686,;MPPED2,non_coding_transcript_exon_variant,,ENST00000525519,;MPPED2,synonymous_variant,p.=,ENST00000526437,;MPPED2,non_coding_transcript_exon_variant,,ENST00000524636,;	A	ENST00000358117	Transcript	synonymous_variant	391/2405	268/885	90/294	L	Ctg/Ttg		1		-1	MPPED2	HGNC	HGNC:1180	protein_coding	YES	CCDS7870.1	ENSP00000350833	Q15777		UPI0000124E87	NM_001584.2			2/6		Gene3D:3.60.21.10,Pfam_domain:PF00149,PIRSF_domain:PIRSF035808,hmmpanther:PTHR12905,hmmpanther:PTHR12905:SF12,Superfamily_domains:SSF56300																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	30536036	30536036	G	A	1	0	0	0	0	0	0	0	1	9708	962	34	3		3	MPPED2	11	30536036	Silent	SNP	G	C3N-00175_TP	5457464	30536036	104550586	854	11004											
KIAA1549L	0	.	GRCh38	chr11	33568097	33568097	+	Nonsense_Mutation	SNP	C	C	A																															gctgcagggtgtggacaattCgctggtgggcctgcacaacc																								rs746306315		C3N-00175_TP	C3N-00175_NB	C	C																c.3209C>A	p.Ser1070Ter	p.S1070*	ENST00000321505	8/20	79	68	11	91	91	0	strelka-varscan-mutect	KIAA1549L,stop_gained,p.Ser1070Ter,ENST00000321505,NM_012194.2;KIAA1549L,stop_gained,p.Ser1076Ter,ENST00000265654,;KIAA1549L,stop_gained,p.Ser468Ter,ENST00000526400,;	A	ENST00000321505	Transcript	stop_gained	3389/11678	3209/5550	1070/1849	S/*	tCg/tAg	rs746306315	1		1	KIAA1549L	HGNC	HGNC:24836	protein_coding	YES	CCDS44565.2	ENSP00000315295	Q6ZVL6		UPI0000E59322	NM_012194.2			8/20		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3,Pfam_domain:PF12877																	HIGH	1	SNV	1			1										PASS		rs746306315	.												A	4	1	39	33568097	33568097	C	A	1	0	0	0	0	0	1	0	0	8121	893	31	1		1	KIAA1549L	11	33568097	Nonsense_Mutation	SNP	C	C3N-00175_TP	3032061	33568097	101518525	855	11005	250	2									
KIAA1549L	0	.	GRCh38	chr11	33568098	33568098	+	Silent	SNP	G	G	C																															ctgcagggtgtggacaattcGctggtgggcctgcacaacca																								rs775916430		C3N-00175_TP	C3N-00175_NB	G	G																c.3210G>C	p.=	p.S1070S	ENST00000321505	8/20	80	71	9	95	95	0	strelka-varscan-mutect	KIAA1549L,synonymous_variant,p.=,ENST00000321505,NM_012194.2;KIAA1549L,synonymous_variant,p.=,ENST00000265654,;KIAA1549L,synonymous_variant,p.=,ENST00000526400,;	C	ENST00000321505	Transcript	synonymous_variant	3390/11678	3210/5550	1070/1849	S	tcG/tcC	rs775916430,COSM159462	1		1	KIAA1549L	HGNC	HGNC:24836	protein_coding	YES	CCDS44565.2	ENSP00000315295	Q6ZVL6		UPI0000E59322	NM_012194.2			8/20		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3,Pfam_domain:PF12877											0,1						LOW	1	SNV	1		0,1	1										PASS		rs775916430	.												C	2	2	39	33568098	33568098	G	C	1	0	0	0	0	0	0	0	1	8121	1074	38	4		4	KIAA1549L	11	33568098	Silent	SNP	G	C3N-00175_TP	1	33568098	101518524	856	11006	250	2									
NAT10	0	.	GRCh38	chr11	34134554	34134554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtctggtggaagggtcGttcgcattgctgttcaccca	5	13	13	10	2	3	0	1	0	2	0	5	1	3	1	1	3	1	4	1	3	1	3	rs769422131		C3N-00175_TP	C3N-00175_NB	G	G																c.1879G>T	p.Val627Phe	p.V627F	ENST00000257829	18/29	201	168	33	242	241	1	strelka-varscan-mutect	NAT10,missense_variant,p.Val627Phe,ENST00000257829,NM_024662.2;NAT10,missense_variant,p.Val555Phe,ENST00000531159,NM_001144030.1;NAT10,missense_variant,p.Val474Phe,ENST00000615292,;NAT10,intron_variant,,ENST00000527971,;NAT10,upstream_gene_variant,,ENST00000530017,;	T	ENST00000257829	Transcript	missense_variant	2085/4002	1879/3078	627/1025	V/F	Gtt/Ttt	rs769422131	1		1	NAT10	HGNC	HGNC:29830	protein_coding	YES	CCDS7889.1	ENSP00000257829	Q9H0A0		UPI000013CF8E	NM_024662.2	deleterious(0)		18/29		PROSITE_profiles:PS51186,hmmpanther:PTHR10925,Pfam_domain:PF13718,Gene3D:3.40.630.30,Superfamily_domains:SSF55729																	MODERATE	1	SNV	1			1										PASS		rs769422131	.												T	3	4	39	34134554	34134554	G	T	1	0	0	0	0	1	0	0	0	10183	1145	40	1		1	NAT10	11	34134554	Missense_Mutation	SNP	G	C3N-00175_TP	566456	34134554	100952068	857	11007											
ELF5	0	.	GRCh38	chr11	34493608	34493608	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttgcagaaggagatgcAattggtgtccaacttgtact	12	11	12	6	0	0	2	0	0	0	2	1	4	1	2	1	2	4	4	1	2	5	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.256T>A	p.Cys86Ser	p.C86S	ENST00000312319	3/7	318	289	29	410	409	1	strelka-varscan-mutect	ELF5,missense_variant,p.Cys86Ser,ENST00000312319,NM_198381.1;ELF5,missense_variant,p.Cys76Ser,ENST00000532417,;ELF5,missense_variant,p.Cys76Ser,ENST00000257832,NM_001422.3;ELF5,intron_variant,,ENST00000620316,NM_001243081.1;ELF5,intron_variant,,ENST00000429939,NM_001243080.1;ELF5,intron_variant,,ENST00000528709,;	T	ENST00000312319	Transcript	missense_variant	486/2450	256/798	86/265	C/S	Tgc/Agc		1		-1	ELF5	HGNC	HGNC:3320	protein_coding	YES	CCDS7892.1	ENSP00000311010	Q9UKW6		UPI000006EFE4	NM_198381.1	tolerated(0.41)		3/7		PROSITE_profiles:PS51433,hmmpanther:PTHR11849:SF15,hmmpanther:PTHR11849,Pfam_domain:PF02198,Gene3D:1.10.150.50,SMART_domains:SM00251,Superfamily_domains:SSF47769																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	34493608	34493608	A	T	1	0	0	0	0	1	0	0	0	4890	130	5	4		4	ELF5	11	34493608	Missense_Mutation	SNP	A	C3N-00175_TP	359054	34493608	100593014	858	11008											
CD44	0	.	GRCh38	chr11	35211414	35211414	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agttactgcagttactgttgGagattccaactctaatgtca	11	14	8	8	0	2	1	1	0	1	1	3	2	3	1	1	1	4	4	1	1	4	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1775G>C	p.Gly592Ala	p.G592A	ENST00000428726	14/18	260	234	26	315	315	0	strelka-varscan-mutect	CD44,missense_variant,p.Gly592Ala,ENST00000428726,NM_000610.3;CD44,missense_variant,p.Gly549Ala,ENST00000415148,NM_001001389.1;CD44,missense_variant,p.Gly343Ala,ENST00000433892,NM_001001390.1;CD44,missense_variant,p.Gly279Ala,ENST00000434472,NM_001202555.1;CD44,missense_variant,p.Gly226Ala,ENST00000526000,;CD44,intron_variant,,ENST00000263398,NM_001001391.1;CD44,intron_variant,,ENST00000442151,NM_001202557.1;CD44,intron_variant,,ENST00000352818,NM_001202556.1;CD44,intron_variant,,ENST00000526669,;CD44,intron_variant,,ENST00000279452,;CD44,intron_variant,,ENST00000278385,;CD44,intron_variant,,ENST00000525688,;CD44,intron_variant,,ENST00000278386,NM_001001392.1;CD44,downstream_gene_variant,,ENST00000531110,;CD44,downstream_gene_variant,,ENST00000525685,;CD44,downstream_gene_variant,,ENST00000528672,;CD44,downstream_gene_variant,,ENST00000531873,;CD44,downstream_gene_variant,,ENST00000533222,;CD44,downstream_gene_variant,,ENST00000526553,;CD44,downstream_gene_variant,,ENST00000527889,;RP1-68D18.4,intron_variant,,ENST00000528869,;RP1-68D18.2,upstream_gene_variant,,ENST00000510619,;CD44,downstream_gene_variant,,ENST00000528086,;CD44,non_coding_transcript_exon_variant,,ENST00000525293,;CD44,intron_variant,,ENST00000425428,;CD44,upstream_gene_variant,,ENST00000527326,;CD44,downstream_gene_variant,,ENST00000532339,;	C	ENST00000428726	Transcript	missense_variant	1898/3046	1775/2229	592/742	G/A	gGa/gCa		1		1	CD44	HGNC	HGNC:1681	protein_coding	YES	CCDS7897.1	ENSP00000398632	P16070		UPI000013D3FE	NM_000610.3	tolerated(0.4)		14/18		hmmpanther:PTHR10225,hmmpanther:PTHR10225:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	35211414	35211414	G	C	1	0	0	0	0	1	0	0	0	2721	1174	41	4		4	CD44	11	35211414	Missense_Mutation	SNP	G	C3N-00175_TP	717806	35211414	99875208	859	11009											
RAG2	0	.	GRCh38	chr11	36592830	36592830	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgcccatccccatgagAgcagtagatcatggcgggtt	9	8	12	12	1	1	2	1	1	0	2	2	3	2	2	4	2	2	3	4	2	1	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1339T>G	p.Ser447Ala	p.S447A	ENST00000618712	3/3	370	277	93	457	454	3	strelka-varscan-mutect	RAG2,missense_variant,p.Ser447Ala,ENST00000618712,NM_001243785.1,NM_001243786.1;RAG2,missense_variant,p.Ser447Ala,ENST00000311485,NM_000536.3;C11orf74,upstream_gene_variant,,ENST00000446510,NM_001276723.1,NM_001276722.1;C11orf74,upstream_gene_variant,,ENST00000617650,NM_001276724.1;C11orf74,upstream_gene_variant,,ENST00000532470,;C11orf74,upstream_gene_variant,,ENST00000334307,NM_138787.3;C11orf74,upstream_gene_variant,,ENST00000534635,NM_001276725.1;C11orf74,upstream_gene_variant,,ENST00000531554,;C11orf74,upstream_gene_variant,,ENST00000347206,NM_001276727.1,NM_001276726.1;C11orf74,upstream_gene_variant,,ENST00000530697,;RAG2,downstream_gene_variant,,ENST00000529083,;RAG2,downstream_gene_variant,,ENST00000527033,;RAG2,downstream_gene_variant,,ENST00000532616,;C11orf74,upstream_gene_variant,,ENST00000527108,;RAG2,intron_variant,,ENST00000524423,;RAG2,downstream_gene_variant,,ENST00000528428,;RAG2,downstream_gene_variant,,ENST00000534379,;RAG2,downstream_gene_variant,,ENST00000530276,;RAG1,intron_variant,,ENST00000534663,;C11orf74,upstream_gene_variant,,ENST00000528092,;C11orf74,upstream_gene_variant,,ENST00000524539,;	C	ENST00000618712	Transcript	missense_variant	1933/2818	1339/1584	447/527	S/A	Tct/Gct		1		-1	RAG2	HGNC	HGNC:9832	protein_coding	YES	CCDS7903.1	ENSP00000478672	P55895		UPI00001330E9	NM_001243785.1,NM_001243786.1	deleterious(0)		3/3		Pfam_domain:PF13341,hmmpanther:PTHR10960,hmmpanther:PTHR10960:SF0,Superfamily_domains:SSF57903																	MODERATE	1	SNV	4			1										PASS		.	.												C	3	2	39	36592830	36592830	A	C	1	0	0	0	0	1	0	0	0	13165	304	11	5		5	RAG2	11	36592830	Missense_Mutation	SNP	A	C3N-00175_TP	1381416	36592830	98493792	860	11010											
LRRC4C	0	.	GRCh38	chr11	40114972	40114972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttgctgcagtaacattcaGggtggctgaagcagtagtat	10	11	14	6	0	1	1	1	1	0	0	1	1	1	1	0	3	4	8	0	3	4	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1321C>A	p.Leu441Met	p.L441M	ENST00000278198	2/2	142	111	31	192	192	0	strelka-varscan-mutect	LRRC4C,missense_variant,p.Leu441Met,ENST00000278198,;LRRC4C,missense_variant,p.Leu441Met,ENST00000527150,;LRRC4C,missense_variant,p.Leu441Met,ENST00000530763,NM_020929.2;LRRC4C,missense_variant,p.Leu441Met,ENST00000528697,NM_001258419.1;LRRC4C,missense_variant,p.Leu441Met,ENST00000619527,;LRRC4C,downstream_gene_variant,,ENST00000533474,;RP11-454H19.2,upstream_gene_variant,,ENST00000624239,;	T	ENST00000278198	Transcript	missense_variant	3285/4054	1321/1923	441/640	L/M	Ctg/Atg		1		-1	LRRC4C	HGNC	HGNC:29317	protein_coding	YES	CCDS31464.1	ENSP00000278198	Q9HCJ2		UPI000000D9A7		deleterious(0)		2/2		PROSITE_profiles:PS50835,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF8,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	40114972	40114972	G	T	1	0	0	0	0	1	0	0	0	8903	991	35	2		2	LRRC4C	11	40114972	Missense_Mutation	SNP	G	C3N-00175_TP	3522142	40114972	94971650	861	11011											
CREB3L1	0	.	GRCh38	chr11	46307898	46307898	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagcccggagctgcccgtGgaccctctggctgccccctc	4	6	12	19	2	1	1	0	0	1	1	2	3	1	3	5	3	4	2	5	3	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.414G>T	p.=	p.V138V	ENST00000621158	3/12	161	136	25	166	166	0	strelka-varscan-mutect	CREB3L1,synonymous_variant,p.=,ENST00000621158,NM_052854.3;CREB3L1,synonymous_variant,p.=,ENST00000534787,;CREB3L1,upstream_gene_variant,,ENST00000530518,;CREB3L1,upstream_gene_variant,,ENST00000527342,;	T	ENST00000621158	Transcript	synonymous_variant	865/2687	414/1560	138/519	V	gtG/gtT		1		1	CREB3L1	HGNC	HGNC:18856	protein_coding	YES	CCDS53620.1	ENSP00000481956	Q96BA8		UPI000004ABFF	NM_052854.3			3/12																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	46307898	46307898	G	T	1	0	0	0	0	0	0	0	1	3656	1335	47	2		2	CREB3L1	11	46307898	Silent	SNP	G	C3N-00175_TP	6192926	46307898	88778724	862	11012											
MADD	0	.	GRCh38	chr11	47282886	47282886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcctatccactatcgCgtctatgacagcaattccca	10	10	6	15	2	1	1	0	1	1	0	4	1	3	1	3	0	3	2	3	0	4	4	rs755965991		C3N-00175_TP	C3N-00175_NB	C	C																c.1779C>T	p.=	p.R593R	ENST00000311027	10/36	199	182	17	267	267	0	strelka-varscan-mutect	MADD,synonymous_variant,p.=,ENST00000342922,NM_130470.2;MADD,synonymous_variant,p.=,ENST00000311027,NM_003682.3;MADD,synonymous_variant,p.=,ENST00000395336,NM_130475.2;MADD,synonymous_variant,p.=,ENST00000349238,NM_130473.2;MADD,synonymous_variant,p.=,ENST00000402192,NM_130476.2;MADD,synonymous_variant,p.=,ENST00000407859,NM_130471.2;MADD,synonymous_variant,p.=,ENST00000402799,NM_130472.2,NM_001135943.1;MADD,synonymous_variant,p.=,ENST00000406482,NM_130474.2;MADD,synonymous_variant,p.=,ENST00000395344,NM_001135944.1;MADD,downstream_gene_variant,,ENST00000428807,;MADD,downstream_gene_variant,,ENST00000489415,;MADD,upstream_gene_variant,,ENST00000524686,;MADD,upstream_gene_variant,,ENST00000524530,;	T	ENST00000311027	Transcript	synonymous_variant	1944/5990	1779/4944	593/1647	R	cgC/cgT	rs755965991,COSM4426176	1		1	MADD	HGNC	HGNC:6766	protein_coding	YES	CCDS7930.1	ENSP00000310933	Q8WXG6		UPI000013E874	NM_003682.3			10/36		hmmpanther:PTHR13008											0,1						LOW	1	SNV	1		0,1	1										PASS		rs755965991	.												T	2	4	39	47282886	47282886	C	T	1	0	0	0	0	0	0	0	1	9068	755	27	1		1	MADD	11	47282886	Silent	SNP	C	C3N-00175_TP	974988	47282886	87803736	863	11013											
OR4X1	0	.	GRCh38	chr11	48264456	48264456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattagcctgctgatcatcaCcaatggcggctccatctccg	8	10	8	15	2	3	1	2	1	1	0	5	1	4	1	4	2	2	2	4	2	2	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.596C>A	p.Thr199Asn	p.T199N	ENST00000320048	1/1	228	169	59	235	235	0	strelka-varscan-mutect	OR4X1,missense_variant,p.Thr199Asn,ENST00000320048,NM_001004726.1;	A	ENST00000320048	Transcript	missense_variant	596/918	596/918	199/305	T/N	aCc/aAc		1		1	OR4X1	HGNC	HGNC:14854	protein_coding	YES	CCDS31487.1	ENSP00000321506	Q8NH49		UPI0000041BDE	NM_001004726.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF271,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	48264456	48264456	C	A	1	0	0	0	0	1	0	0	0	11160	507	18	2		2	OR4X1	11	48264456	Missense_Mutation	SNP	C	C3N-00175_TP	981570	48264456	86822166	864	11014											
OR4S1	0	.	GRCh38	chr11	48306309	48306309	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catacatgctttgtggtattCttcctctttcatgtgctcac	6	18	6	11	0	4	0	2	0	2	0	5	0	5	0	1	1	3	3	1	1	2	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.87C>G	p.Phe29Leu	p.F29L	ENST00000319988	1/1	210	175	35	228	228	0	strelka-varscan-mutect	OR4S1,missense_variant,p.Phe29Leu,ENST00000319988,NM_001004725.1;	G	ENST00000319988	Transcript	missense_variant	87/930	87/930	29/309	F/L	ttC/ttG		1		1	OR4S1	HGNC	HGNC:14705	protein_coding	YES	CCDS31488.1	ENSP00000321447	Q8NGB4	A0A126GVU1	UPI0000041B2E	NM_001004725.1	deleterious(0)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR26451:SF226,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	39	48306309	48306309	C	G	1	0	0	0	0	1	0	0	0	11158	912	32	4		4	OR4S1	11	48306309	Missense_Mutation	SNP	C	C3N-00175_TP	41853	48306309	86780313	865	11015											
OR4A16	0	.	GRCh38	chr11	55343540	55343540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcagaggtcttccttttgGtggtgatggcctatgatcgc	5	14	14	8	1	1	3	0	2	1	1	3	3	2	3	2	4	1	1	2	4	1	4	rs762002982		C3N-00175_TP	C3N-00175_NB	G	G																c.340G>T	p.Val114Leu	p.V114L	ENST00000314721	1/1	179	145	34	228	228	0	strelka-varscan-mutect	OR4A16,missense_variant,p.Val114Leu,ENST00000314721,NM_001005274.1;	T	ENST00000314721	Transcript	missense_variant	340/987	340/987	114/328	V/L	Gtg/Ttg	rs762002982	1		1	OR4A16	HGNC	HGNC:15153	protein_coding	YES	CCDS31499.1	ENSP00000325128	Q8NH70	A0A126GW87	UPI0000061EB2	NM_001005274.1	tolerated_low_confidence(0.25)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF355,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs762002982	.												T	3	4	39	55343540	55343540	G	T	1	0	0	0	0	1	0	0	0	11118	1261	44	2		2	OR4A16	11	55343540	Missense_Mutation	SNP	G	C3N-00175_TP	7037231	55343540	79743082	866	11016											
OR4S2	0	.	GRCh38	chr11	55651240	55651240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcactgagatcttcatcCttactgtaatggcctatgat	9	15	8	9	0	2	2	1	2	1	1	3	3	3	2	2	1	2	3	2	1	3	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.337C>A	p.Leu113Ile	p.L113I	ENST00000312422	1/1	65	28	37	65	65	0	strelka-varscan-mutect	OR4S2,missense_variant,p.Leu113Ile,ENST00000312422,NM_001004059.2;	A	ENST00000312422	Transcript	missense_variant	337/936	337/936	113/311	L/I	Ctt/Att		1		1	OR4S2	HGNC	HGNC:15183	protein_coding	YES	CCDS31505.1	ENSP00000310337	Q8NH73	A0A126GVG1	UPI00001D77D2	NM_001004059.2	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF110,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	55651240	55651240	C	A	1	0	0	0	0	1	0	0	0	11159	681	24	2		2	OR4S2	11	55651240	Missense_Mutation	SNP	C	C3N-00175_TP	307700	55651240	79435382	867	11017											
OR5W2	0	.	GRCh38	chr11	55914049	55914049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagaggagggatatcacaGaagaaatgattaatctcatt	18	9	10	4	0	2	4	2	1	1	3	3	7	2	6	0	2	0	0	0	2	5	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.534C>T	p.=	p.F178F	ENST00000344514	1/1	78	71	7	82	82	0	strelka-varscan-mutect	OR5W2,synonymous_variant,p.=,ENST00000344514,NM_001001960.1;	A	ENST00000344514	Transcript	synonymous_variant	534/933	534/933	178/310	F	ttC/ttT		1		-1	OR5W2	HGNC	HGNC:15299	protein_coding	YES	CCDS31513.1	ENSP00000342448	Q8NH69		UPI0000061E8D	NM_001001960.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF58,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	39	55914049	55914049	G	A	1	0	0	0	0	0	0	0	1	11253	933	33	3		3	OR5W2	11	55914049	Silent	SNP	G	C3N-00175_TP	262809	55914049	79172573	868	11018											
OR5F1	0	.	GRCh38	chr11	55994297	55994297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acccaaagaggatgcattcgGttgtcgccagggagataaag	13	7	13	8	2	0	2	0	0	0	2	2	4	0	3	2	3	1	2	2	3	3	3	rs765749853		C3N-00175_TP	C3N-00175_NB	G	G																c.329C>A	p.Thr110Asn	p.T110N	ENST00000278409	1/1	194	164	30	195	195	0	strelka-varscan-mutect	OR5F1,missense_variant,p.Thr110Asn,ENST00000278409,NM_003697.1;	T	ENST00000278409	Transcript	missense_variant	329/945	329/945	110/314	T/N	aCc/aAc	rs765749853	1		-1	OR5F1	HGNC	HGNC:8343	protein_coding	YES	CCDS31515.1	ENSP00000278409	O95221		UPI0000041D19	NM_003697.1	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF168,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs765749853	.												T	3	4	39	55994297	55994297	G	T	1	0	0	0	0	1	0	0	0	11228	1261	44	2		2	OR5F1	11	55994297	Missense_Mutation	SNP	G	C3N-00175_TP	80248	55994297	79092325	869	11019											
OR5J2	0	.	GRCh38	chr11	56177203	56177203	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgacacctccatgaatGagttgttgctgttaaccttc	8	15	8	10	0	1	3	0	3	1	0	3	3	2	3	3	0	2	5	3	0	2	5	rs755600455		C3N-00175_TP	C3N-00175_NB	G	G																c.586G>T	p.Glu196Ter	p.E196*	ENST00000312298	1/1	237	206	31	231	231	0	strelka-varscan-mutect	OR5J2,stop_gained,p.Glu196Ter,ENST00000312298,NM_001005492.1;	T	ENST00000312298	Transcript	stop_gained	586/939	586/939	196/312	E/*	Gag/Tag	rs755600455	1		1	OR5J2	HGNC	HGNC:19612	protein_coding	YES	CCDS31522.1	ENSP00000310788	Q8NH18	A0A126GVP0	UPI000004B232	NM_001005492.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF343,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	HIGH	1	SNV				1										PASS		rs755600455	.												T	4	4	39	56177203	56177203	G	T	1	0	0	0	0	0	1	0	0	11235	1291	45	2		2	OR5J2	11	56177203	Nonsense_Mutation	SNP	G	C3N-00175_TP	182906	56177203	78909419	870	11020											
OR8H1	0	.	GRCh38	chr11	56290782	56290782	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctgggcaaagcagcccAtgaaggaaatatagttggaa	16	7	11	7	0	1	1	0	1	1	0	1	3	1	3	1	3	2	3	1	3	6	3	rs764171124		C3N-00175_TP	C3N-00175_NB	A	A																c.281T>A	p.Met94Lys	p.M94K	ENST00000313022	1/1	165	140	25	203	203	0	strelka-varscan-mutect	OR8H1,missense_variant,p.Met94Lys,ENST00000313022,NM_001005199.1;OR8H1,missense_variant,p.Met90Lys,ENST00000610894,;	T	ENST00000313022	Transcript	missense_variant	309/1038	281/936	94/311	M/K	aTg/aAg	rs764171124	1		-1	OR8H1	HGNC	HGNC:14824	protein_coding	YES	CCDS31526.1	ENSP00000323595	Q8NGG4	A0A126GVW6	UPI0000041BC0	NM_001005199.1	tolerated(0.18)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF11,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs764171124	.												T	3	4	39	56290782	56290782	A	T	1	0	0	0	0	1	0	0	0	11305	217	8	4		4	OR8H1	11	56290782	Missense_Mutation	SNP	A	C3N-00175_TP	113579	56290782	78795840	871	11021											
OR5M3	0	.	GRCh38	chr11	56469924	56469924	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcattgtatattcttttaCaaaggtcccagcacaggcca	12	12	7	10	0	2	0	1	0	1	0	3	1	3	0	2	2	2	2	2	2	4	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.574G>T	p.Val192Leu	p.V192L	ENST00000312240	1/1	119	101	18	138	138	0	strelka-varscan-mutect	OR5M3,missense_variant,p.Val192Leu,ENST00000312240,NM_001004742.2;	A	ENST00000312240	Transcript	missense_variant	574/924	574/924	192/307	V/L	Gta/Tta		1		-1	OR5M3	HGNC	HGNC:14806	protein_coding	YES	CCDS31532.1	ENSP00000312208	Q8NGP4		UPI0000041BAA	NM_001004742.2	tolerated(0.29)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF17,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1401618880	.												A	3	1	39	56469924	56469924	C	A	1	0	0	0	0	1	0	0	0	11244	478	17	2		2	OR5M3	11	56469924	Missense_Mutation	SNP	C	C3N-00175_TP	179142	56469924	78616698	872	11022											
CLP1	0	.	GRCh38	chr11	57660881	57660881	+	Frame_Shift_Del	DEL	T	T	-																															aagggctctggttaccaggcTctggtgcatgcagcctcagc																								novel		C3N-00175_TP	C3N-00175_NB	T	T																c.723delT	p.Leu242TrpfsTer25	p.L242Wfs*25	ENST00000533682	3/3	163	120	43	205	205	0	sindel-varindel-pindel	CLP1,frameshift_variant,p.Leu242TrpfsTer25,ENST00000533682,;CLP1,frameshift_variant,p.Leu253TrpfsTer25,ENST00000529430,;CLP1,frameshift_variant,p.Leu178TrpfsTer25,ENST00000302731,NM_001142597.1;CLP1,frameshift_variant,p.Leu242TrpfsTer25,ENST00000525602,NM_006831.2;CLP1,downstream_gene_variant,,ENST00000529773,;CLP1,downstream_gene_variant,,ENST00000533905,;	-	ENST00000533682	Transcript	frameshift_variant	1448/2435	723/1278	241/425	A/X	gcT/gc		1		1	CLP1	HGNC	HGNC:16999	protein_coding	YES	CCDS7964.1	ENSP00000434995	Q92989		UPI000012754A				3/3		HAMAP:MF_03035,hmmpanther:PTHR12755,Pfam_domain:PF16575,Superfamily_domains:SSF52540																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	39	57660881	57660881	T	-	1	0	1	0	1	0	0	0	0	3320	1538	54	0		0	CLP1	11	57660881	Frame_Shift_Del	DEL	T	C3N-00175_TP	1190957	57660881	77425741	873	11023											
MS4A4A	0	.	GRCh38	chr11	60302599	60302599	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatatcaccagctctgtacTggctgcatcagggatcttaa	11	11	9	10	0	4	0	2	0	2	0	4	2	4	1	1	2	3	4	1	2	4	3	rs749978296		C3N-00175_TP	C3N-00175_NB	T	T																c.428T>A	p.Leu143Gln	p.L143Q	ENST00000337908	5/7	179	127	52	209	209	0	strelka-varscan-mutect	MS4A4A,missense_variant,p.Leu143Gln,ENST00000337908,NM_148975.2,NM_024021.3;MS4A4A,intron_variant,,ENST00000532114,NM_001243266.1;MS4A4A,3_prime_UTR_variant,,ENST00000343968,;MS4A4A,3_prime_UTR_variant,,ENST00000527056,;MS4A4A,3_prime_UTR_variant,,ENST00000529950,;MS4A4A,upstream_gene_variant,,ENST00000529991,;	A	ENST00000337908	Transcript	missense_variant	518/1604	428/720	143/239	L/Q	cTg/cAg	rs749978296	1		1	MS4A4A	HGNC	HGNC:13371	protein_coding	YES	CCDS7982.1	ENSP00000338648	Q96JQ5		UPI0000055AE7	NM_148975.2,NM_024021.3	deleterious(0.01)		5/7		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF59,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs749978296	.												A	3	1	39	60302599	60302599	T	A	1	0	0	0	0	1	0	0	0	9840	1580	55	4		4	MS4A4A	11	60302599	Missense_Mutation	SNP	T	C3N-00175_TP	2641718	60302599	74784023	874	11024											
MS4A4A	0	.	GRCh38	chr11	60302697	60302697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaactcaaataattgtcatGggactatgtccatcttaatg	13	13	7	8	0	3	0	2	0	1	0	4	1	4	1	1	1	1	1	1	1	5	4	rs752297993		C3N-00175_TP	C3N-00175_NB	G	G																c.526G>T	p.Gly176Trp	p.G176W	ENST00000337908	5/7	124	106	18	144	144	0	strelka-varscan-mutect	MS4A4A,missense_variant,p.Gly176Trp,ENST00000337908,NM_148975.2,NM_024021.3;MS4A4A,intron_variant,,ENST00000532114,NM_001243266.1;MS4A4A,3_prime_UTR_variant,,ENST00000343968,;MS4A4A,3_prime_UTR_variant,,ENST00000527056,;MS4A4A,upstream_gene_variant,,ENST00000529991,;MS4A4A,downstream_gene_variant,,ENST00000529950,;	T	ENST00000337908	Transcript	missense_variant	616/1604	526/720	176/239	G/W	Ggg/Tgg	rs752297993	1		1	MS4A4A	HGNC	HGNC:13371	protein_coding	YES	CCDS7982.1	ENSP00000338648	Q96JQ5		UPI0000055AE7	NM_148975.2,NM_024021.3	tolerated(0.05)		5/7		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF59																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	60302697	60302697	G	T	1	0	0	0	0	1	0	0	0	9840	1348	47	2		2	MS4A4A	11	60302697	Missense_Mutation	SNP	G	C3N-00175_TP	98	60302697	74783925	875	11025											
MS4A14	0	.	GRCh38	chr11	60416966	60416966	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctccaggctggacaaccCaggactgtcaatcttttggc	10	10	9	12	0	3	0	1	0	2	0	4	2	3	2	2	4	1	1	2	4	3	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2097C>A	p.=	p.P699P	ENST00000531783	6/6	99	76	23	122	122	0	strelka-varscan-mutect	MS4A14,synonymous_variant,p.=,ENST00000395001,NM_001261827.1;MS4A14,synonymous_variant,p.=,ENST00000300187,NM_032597.4;MS4A14,synonymous_variant,p.=,ENST00000531783,NM_001261828.1;MS4A14,synonymous_variant,p.=,ENST00000395005,NM_001079692.2;MS4A14,synonymous_variant,p.=,ENST00000531787,;MS4A14,3_prime_UTR_variant,,ENST00000530662,;MS4A14,3_prime_UTR_variant,,ENST00000527841,;MS4A14,3_prime_UTR_variant,,ENST00000525397,;	A	ENST00000531783	Transcript	synonymous_variant	2188/2910	2097/2139	699/712	P	ccC/ccA		1		1	MS4A14	HGNC	HGNC:30706	protein_coding	YES	CCDS58136.1	ENSP00000433761	Q96JA4		UPI0001F77AC2	NM_001261828.1			6/6																			LOW	1	SNV	5			1										PASS		rs1318162527	.												A	2	1	39	60416966	60416966	C	A	1	0	0	0	0	0	0	0	1	9835	581	21	2		2	MS4A14	11	60416966	Silent	SNP	C	C3N-00175_TP	114269	60416966	74669656	876	11026											
RAB3IL1	0	.	GRCh38	chr11	61908114	61908114	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttctctcggatctccatGgaagagctgcgcaggcgcaa	8	8	11	14	3	2	1	0	0	2	1	5	3	2	3	2	3	2	3	2	3	2	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.204C>A	p.=	p.S68S	ENST00000394836	2/10	150	133	17	186	186	0	strelka-varscan-mutect	RAB3IL1,synonymous_variant,p.=,ENST00000394836,NM_013401.3;RAB3IL1,synonymous_variant,p.=,ENST00000301773,NM_001271686.1;RAB3IL1,synonymous_variant,p.=,ENST00000531922,;RAB3IL1,upstream_gene_variant,,ENST00000530888,;	T	ENST00000394836	Transcript	synonymous_variant	362/2284	204/1149	68/382	S	tcC/tcA		1		-1	RAB3IL1	HGNC	HGNC:9780	protein_coding	YES	CCDS8014.1	ENSP00000378313	Q8TBN0		UPI000007260E	NM_013401.3			2/10		hmmpanther:PTHR14430:SF1,hmmpanther:PTHR14430,Superfamily_domains:0053574																	LOW	1	SNV	1			1										PASS		rs1323996451	.												T	2	4	39	61908114	61908114	G	T	1	0	0	0	0	0	0	0	1	13096	1335	47	2		2	RAB3IL1	11	61908114	Silent	SNP	G	C3N-00175_TP	1491148	61908114	73178508	877	11027											
AHNAK	0	.	GRCh38	chr11	62518317	62518317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatctccctgcaggcttggtCccctcagtgtcacatctggt	5	12	10	14	0	4	0	2	0	2	0	6	1	5	0	3	3	1	2	3	3	0	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.16100G>T	p.Gly5367Val	p.G5367V	ENST00000378024	5/5	154	111	43	162	160	2	strelka-varscan-mutect	AHNAK,missense_variant,p.Gly5367Val,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	A	ENST00000378024	Transcript	missense_variant	16375/18787	16100/17673	5367/5890	G/V	gGa/gTa		1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2	deleterious(0.03)		5/5		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	62518317	62518317	C	A	1	0	0	0	0	1	0	0	0	491	855	30	2		2	AHNAK	11	62518317	Missense_Mutation	SNP	C	C3N-00175_TP	610203	62518317	72568305	878	11028											
RNASEH2C	0	.	GRCh38	chr11	65720710	65720710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcgcaatgtggcggagcGcaagtggacgcggtgcctct	6	7	17	11	6	1	0	0	0	1	0	2	2	1	2	1	4	2	2	1	4	2	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.49C>A	p.Arg17Ser	p.R17S	ENST00000308418	1/4	338	309	29	300	300	0	strelka-varscan-mutect	RNASEH2C,missense_variant,p.Arg17Ser,ENST00000308418,NM_032193.3;RNASEH2C,missense_variant,p.Arg17Ser,ENST00000527610,;RNASEH2C,5_prime_UTR_variant,,ENST00000528220,;KAT5,downstream_gene_variant,,ENST00000341318,NM_182710.2;KAT5,downstream_gene_variant,,ENST00000377046,NM_006388.3;KAT5,downstream_gene_variant,,ENST00000352980,NM_182709.2;KAT5,downstream_gene_variant,,ENST00000534650,;KAT5,downstream_gene_variant,,ENST00000530446,NM_001206833.1;KAT5,downstream_gene_variant,,ENST00000533596,;RNASEH2C,missense_variant,p.Arg11Ser,ENST00000531596,;RNASEH2C,non_coding_transcript_exon_variant,,ENST00000530192,;RNASEH2C,upstream_gene_variant,,ENST00000534482,;KAT5,downstream_gene_variant,,ENST00000533441,;RNASEH2C,upstream_gene_variant,,ENST00000533698,;KAT5,downstream_gene_variant,,ENST00000525600,;	T	ENST00000308418	Transcript	missense_variant	238/2794	49/495	17/164	R/S	Cgc/Agc		1		-1	RNASEH2C	HGNC	HGNC:24116	protein_coding	YES	CCDS8111.1	ENSP00000308193	Q8TDP1	A0A024R5B3	UPI000000D799	NM_032193.3	deleterious(0.03)		1/4		hmmpanther:PTHR21726																	MODERATE	1	SNV	1			1										PASS		rs772074076	.												T	3	4	39	65720710	65720710	G	T	1	0	0	0	0	1	0	0	0	13593	1087	38	1		1	RNASEH2C	11	65720710	Missense_Mutation	SNP	G	C3N-00175_TP	3202393	65720710	69365912	879	11029											
SART1	0	.	GRCh38	chr11	65965219	65965219	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctgaaccaaaagctgggGtgaggggtcctggccagggc	8	6	17	10	0	0	2	0	2	0	0	1	2	1	2	3	6	3	2	3	6	3	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.554+1G>T		p.X185_splice	ENST00000312397		94	75	19	119	119	0	strelka-varscan-mutect	SART1,splice_donor_variant,,ENST00000312397,NM_005146.4;SART1,downstream_gene_variant,,ENST00000528573,;SART1,splice_donor_variant,,ENST00000529532,;SART1,splice_donor_variant,,ENST00000530251,;SART1,downstream_gene_variant,,ENST00000532333,;	T	ENST00000312397	Transcript	splice_donor_variant	-/3293	554/2403	185/800				1		1	SART1	HGNC	HGNC:10538	protein_coding	YES	CCDS31611.1	ENSP00000310448	O43290		UPI00000732D5	NM_005146.4				4/19																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	39	65965219	65965219	G	T	1	0	0	0	0	0	0	1	0	14107	1275	44	2		2	SART1	11	65965219	Splice_Site	SNP	G	C3N-00175_TP	244509	65965219	69121403	880	11030											
PACS1	0	.	GRCh38	chr11	66230815	66230815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccctggcagcaaagtggagGgggtgcacacaccccggcag	9	4	15	13	1	0	0	0	0	0	0	1	1	1	1	3	5	2	4	3	5	1	0	rs770845874		C3N-00175_TP	C3N-00175_NB	G	G																c.1501G>T	p.Gly501Trp	p.G501W	ENST00000320580	13/24	335	266	69	291	291	0	strelka-varscan-mutect	PACS1,missense_variant,p.Gly501Trp,ENST00000320580,NM_018026.3;PACS1,missense_variant,p.Gly37Trp,ENST00000529757,;PACS1,upstream_gene_variant,,ENST00000528935,;PACS1,upstream_gene_variant,,ENST00000529795,;	T	ENST00000320580	Transcript	missense_variant	1534/4392	1501/2892	501/963	G/W	Ggg/Tgg	rs770845874	1		1	PACS1	HGNC	HGNC:30032	protein_coding	YES	CCDS8129.1	ENSP00000316454	Q6VY07	A0A024R5H6	UPI0000190973	NM_018026.3	deleterious(0)		13/24		hmmpanther:PTHR13280,hmmpanther:PTHR13280:SF16																	MODERATE	1	SNV	1			1										PASS		rs770845874	.												T	3	4	39	66230815	66230815	G	T	1	0	0	0	0	1	0	0	0	11450	1232	43	2		2	PACS1	11	66230815	Missense_Mutation	SNP	G	C3N-00175_TP	265596	66230815	68855807	881	11031											
SYT12	0	.	GRCh38	chr11	67039861	67039861	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcacgcggggaccacccagCcgcaaaggcagtctcagcat	11	3	12	15	3	1	0	1	0	1	0	2	1	1	1	3	3	3	4	3	3	1	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.279C>T	p.=	p.S93S	ENST00000393946	7/11	155	118	37	149	149	0	strelka-varscan-mutect	SYT12,synonymous_variant,p.=,ENST00000393946,;SYT12,synonymous_variant,p.=,ENST00000525457,NM_001177880.1;SYT12,synonymous_variant,p.=,ENST00000527043,NM_177963.3;SYT12,synonymous_variant,p.=,ENST00000533427,;SYT12,non_coding_transcript_exon_variant,,ENST00000526281,;SYT12,non_coding_transcript_exon_variant,,ENST00000525149,;	T	ENST00000393946	Transcript	synonymous_variant	1441/4534	279/1266	93/421	S	agC/agT		1		1	SYT12	HGNC	HGNC:18381	protein_coding	YES	CCDS8154.1	ENSP00000377520	Q8IV01		UPI00000746CD				7/11		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF252																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	39	67039861	67039861	C	T	1	0	0	0	0	0	0	0	1	15862	738	26	3		3	SYT12	11	67039861	Silent	SNP	C	C3N-00175_TP	809046	67039861	68046761	882	11032											
CARNS1	0	.	GRCh38	chr11	67419038	67419038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggaccggctgctgaCaaggcagttgctggcccagc	7	6	16	12	1	0	1	0	1	0	0	0	3	0	3	2	5	3	6	2	5	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.647C>A	p.Thr216Lys	p.T216K	ENST00000445895	4/9	180	145	35	249	249	0	strelka-varscan-mutect	CARNS1,missense_variant,p.Thr216Lys,ENST00000445895,NM_001166222.1;CARNS1,missense_variant,p.Thr93Lys,ENST00000307823,NM_020811.1;CARNS1,missense_variant,p.Thr216Lys,ENST00000531040,;PPP1CA,intron_variant,,ENST00000542876,;PPP1CA,intron_variant,,ENST00000546202,;CARNS1,downstream_gene_variant,,ENST00000529925,;CARNS1,downstream_gene_variant,,ENST00000525907,;CARNS1,non_coding_transcript_exon_variant,,ENST00000531388,;CARNS1,non_coding_transcript_exon_variant,,ENST00000531958,;	A	ENST00000445895	Transcript	missense_variant	761/3971	647/2853	216/950	T/K	aCa/aAa		1		1	CARNS1	HGNC	HGNC:29268	protein_coding	YES	CCDS53667.1	ENSP00000389009	A5YM72		UPI0001B99E02	NM_001166222.1	deleterious(0.01)		4/9		Low_complexity_(Seg):seg,Gene3D:3.30.470.20																	MODERATE	1	SNV	5			1										PASS		rs1316270837	.												A	3	1	39	67419038	67419038	C	A	1	0	0	0	0	1	0	0	0	2355	478	17	2		2	CARNS1	11	67419038	Missense_Mutation	SNP	C	C3N-00175_TP	379177	67419038	67667584	883	11033											
RNF121	0	.	GRCh38	chr11	71994770	71994770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctttcagacagtgtgtgtGctgtgtgtgggcagcagatc	7	13	14	7	0	2	2	1	0	1	2	3	2	2	2	0	1	2	3	0	1	0	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.679G>T	p.Ala227Ser	p.A227S	ENST00000361756	7/9	225	194	31	220	220	0	strelka-varscan-mutect	RNF121,missense_variant,p.Ala227Ser,ENST00000361756,NM_018320.4;RNF121,missense_variant,p.Ala195Ser,ENST00000530137,;RNF121,missense_variant,p.Ala67Ser,ENST00000533380,;RNF121,intron_variant,,ENST00000393713,NM_001300926.1;IL18BP,upstream_gene_variant,,ENST00000497194,NM_005699.3;IL18BP,upstream_gene_variant,,ENST00000404792,NM_173042.2;IL18BP,upstream_gene_variant,,ENST00000393703,NM_001039660.1;IL18BP,upstream_gene_variant,,ENST00000337131,;IL18BP,upstream_gene_variant,,ENST00000620017,NM_173044.2;IL18BP,upstream_gene_variant,,ENST00000393705,NM_001039659.1;IL18BP,upstream_gene_variant,,ENST00000260049,NM_001145057.1;IL18BP,upstream_gene_variant,,ENST00000531053,;RNF121,non_coding_transcript_exon_variant,,ENST00000490867,;IL18BP,upstream_gene_variant,,ENST00000525932,;IL18BP,upstream_gene_variant,,ENST00000531777,;IL18BP,upstream_gene_variant,,ENST00000414358,;RNF121,downstream_gene_variant,,ENST00000525176,;RNF121,missense_variant,p.Cys135Phe,ENST00000525243,;RNF121,3_prime_UTR_variant,,ENST00000526549,;RNF121,3_prime_UTR_variant,,ENST00000530655,;IL18BP,upstream_gene_variant,,ENST00000343898,;IL18BP,upstream_gene_variant,,ENST00000534583,;RNF121,downstream_gene_variant,,ENST00000528683,;RNF121,upstream_gene_variant,,ENST00000532379,;RNF121,downstream_gene_variant,,ENST00000530058,;	T	ENST00000361756	Transcript	missense_variant	1040/2625	679/984	227/327	A/S	Gct/Tct		1		1	RNF121	HGNC	HGNC:21070	protein_coding	YES	CCDS8203.1	ENSP00000354571	Q9H920		UPI000006FB75	NM_018320.4	tolerated(0.05)		7/9		PROSITE_profiles:PS50089,hmmpanther:PTHR13407,hmmpanther:PTHR13407:SF1,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	71994770	71994770	G	T	1	0	0	0	0	1	0	0	0	13609	1319	46	2		2	RNF121	11	71994770	Missense_Mutation	SNP	G	C3N-00175_TP	4575732	71994770	63091852	884	11034											
FOLR3	0	.	GRCh38	chr11	72136104	72136104	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacagcccagccccgaggAcgagctgtatggccaggtga	10	4	14	13	2	0	1	0	1	0	0	0	5	0	2	4	3	3	2	4	3	1	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.152A>T	p.Asp51Val	p.D51V	ENST00000611028	2/5	149	109	40	175	175	0	strelka-varscan-mutect	FOLR3,missense_variant,p.Asp51Val,ENST00000611028,NM_000804.2;FOLR3,missense_variant,p.Asp49Val,ENST00000442948,;FOLR3,missense_variant,p.Asp51Val,ENST00000622388,;FOLR3,missense_variant,p.Asp49Val,ENST00000546166,;FOLR3,missense_variant,p.Asp51Val,ENST00000612844,NM_001318045.1;FOLR3,upstream_gene_variant,,ENST00000545379,;RPEP6,downstream_gene_variant,,ENST00000546228,;	T	ENST00000611028	Transcript	missense_variant	175/820	152/738	51/245	D/V	gAc/gTc		1		1	FOLR3	HGNC	HGNC:3795	protein_coding	YES	CCDS73344.1	ENSP00000481114		A0A087WXL1	UPI0000D4B12C	NM_000804.2	deleterious(0)		2/5		hmmpanther:PTHR10517:SF17,hmmpanther:PTHR10517,Pfam_domain:PF03024																	MODERATE	1	SNV	1			1										PASS		rs1224266770	.												T	3	4	39	72136104	72136104	A	T	1	0	0	0	0	1	0	0	0	5843	275	10	4		4	FOLR3	11	72136104	Missense_Mutation	SNP	A	C3N-00175_TP	141334	72136104	62950518	885	11035											
CHRDL2	0	.	GRCh38	chr11	74713461	74713461	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcggacagtggaggcggtAacaactcacatgggcgccct	10	5	15	11	3	1	0	1	0	0	0	1	2	1	2	1	6	2	1	1	6	2	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.214T>A	p.Tyr72Asn	p.Y72N	ENST00000263671	3/12	203	165	38	122	122	0	strelka-varscan-mutect	CHRDL2,missense_variant,p.Tyr72Asn,ENST00000376332,NM_001278473.2;CHRDL2,missense_variant,p.Tyr72Asn,ENST00000263671,NM_015424.5,NM_001304391.1,NM_001304390.1;CHRDL2,missense_variant,p.Tyr72Asn,ENST00000528789,;CHRDL2,5_prime_UTR_variant,,ENST00000622063,;CHRDL2,non_coding_transcript_exon_variant,,ENST00000534159,;CHRDL2,missense_variant,p.Tyr52Asn,ENST00000534276,;CHRDL2,intron_variant,,ENST00000376324,NM_001304416.1;CHRDL2,intron_variant,,ENST00000528471,;	T	ENST00000263671	Transcript	missense_variant	501/1712	214/1356	72/451	Y/N	Tac/Aac		1		-1	CHRDL2	HGNC	HGNC:24168	protein_coding	YES	CCDS8234.1	ENSP00000263671	Q6WN34		UPI0000034E41	NM_015424.5,NM_001304391.1,NM_001304390.1	tolerated(0.52)		3/12		PROSITE_profiles:PS50184,hmmpanther:PTHR11339,PROSITE_patterns:PS01208,Pfam_domain:PF00093,SMART_domains:SM00214,Superfamily_domains:SSF57603																	MODERATE	1	SNV	1			1										PASS		rs1345252301	.												T	3	4	39	74713461	74713461	A	T	1	0	0	0	0	1	0	0	0	3134	362	13	4		4	CHRDL2	11	74713461	Missense_Mutation	SNP	A	C3N-00175_TP	2577357	74713461	60373161	886	11036											
THAP12	0	.	GRCh38	chr11	76365967	76365967	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagttctccacccacttcTggcatctataaataaaacca	14	11	3	13	0	3	0	0	0	3	0	4	0	3	0	3	1	2	2	3	1	6	6	rs780565256		C3N-00175_TP	C3N-00175_NB	T	T																c.95A>T	p.Gln32Leu	p.Q32L	ENST00000260045	2/5	106	80	26	118	118	0	strelka-varscan-mutect	THAP12,missense_variant,p.Gln32Leu,ENST00000260045,NM_004705.3;THAP12,non_coding_transcript_exon_variant,,ENST00000531878,;THAP12,missense_variant,p.Gln32Leu,ENST00000528993,;THAP12,upstream_gene_variant,,ENST00000525277,;	A	ENST00000260045	Transcript	missense_variant	201/3300	95/2286	32/761	Q/L	cAg/cTg	rs780565256	1		-1	THAP12	HGNC	HGNC:9440	protein_coding	YES	CCDS8243.1	ENSP00000260045	O43422	A0A140VJQ7	UPI0000131030	NM_004705.3	deleterious(0.02)		2/5		Pfam_domain:PF05485,PROSITE_profiles:PS50950,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF104,SMART_domains:SM00692,SMART_domains:SM00980,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		rs780565256	.												A	3	1	39	76365967	76365967	T	A	1	0	0	0	0	1	0	0	0	16276	1594	55	4		4	THAP12	11	76365967	Missense_Mutation	SNP	T	C3N-00175_TP	1652506	76365967	58720655	887	11037											
MYO7A	0	.	GRCh38	chr11	77190787	77190787	+	Missense_Mutation	SNP	A	A	C																															cggactcggcaaccacggccAaggagctctgcaacgcgctg																								novel		C3N-00175_TP	C3N-00175_NB	A	A																c.3841A>C	p.Lys1281Gln	p.K1281Q	ENST00000409709	30/49	195	142	53	176	176	0	strelka-varscan-mutect	MYO7A,missense_variant,p.Lys1281Gln,ENST00000409709,NM_000260.3;MYO7A,missense_variant,p.Lys1281Gln,ENST00000458637,NM_001127180.1;MYO7A,missense_variant,p.Lys1270Gln,ENST00000409619,;MYO7A,missense_variant,p.Lys462Gln,ENST00000458169,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;MYO7A,non_coding_transcript_exon_variant,,ENST00000467137,;	C	ENST00000409709	Transcript	missense_variant	4113/7462	3841/6648	1281/2215	K/Q	Aag/Cag		1		1	MYO7A	HGNC	HGNC:7606	protein_coding	YES	CCDS53683.1	ENSP00000386331	Q13402		UPI00001FAFE6	NM_000260.3	tolerated(0.12)		30/49		Low_complexity_(Seg):seg,PROSITE_profiles:PS50057,SMART_domains:SM00295,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	77190787	77190787	A	C	1	0	0	0	0	1	0	0	0	10083	131	5	5		5	MYO7A	11	77190787	Missense_Mutation	SNP	A	C3N-00175_TP	824820	77190787	57895835	888	11038	251	2									
MYO7A	0	.	GRCh38	chr11	77190789	77190789	+	Missense_Mutation	SNP	G	G	T																															gactcggcaaccacggccaaGgagctctgcaacgcgctggc																								rs759150014		C3N-00175_TP	C3N-00175_NB	G	G																c.3843G>T	p.Lys1281Asn	p.K1281N	ENST00000409709	30/49	186	136	50	173	173	0	strelka-varscan-mutect	MYO7A,missense_variant,p.Lys1281Asn,ENST00000409709,NM_000260.3;MYO7A,missense_variant,p.Lys1281Asn,ENST00000458637,NM_001127180.1;MYO7A,missense_variant,p.Lys1270Asn,ENST00000409619,;MYO7A,missense_variant,p.Lys462Asn,ENST00000458169,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;MYO7A,non_coding_transcript_exon_variant,,ENST00000467137,;	T	ENST00000409709	Transcript	missense_variant	4115/7462	3843/6648	1281/2215	K/N	aaG/aaT	rs759150014	1		1	MYO7A	HGNC	HGNC:7606	protein_coding	YES	CCDS53683.1	ENSP00000386331	Q13402		UPI00001FAFE6	NM_000260.3	tolerated(0.06)		30/49		Low_complexity_(Seg):seg,PROSITE_profiles:PS50057,SMART_domains:SM00295,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		rs759150014	.												T	3	4	39	77190789	77190789	G	T	1	0	0	0	0	1	0	0	0	10083	991	35	2		2	MYO7A	11	77190789	Missense_Mutation	SNP	G	C3N-00175_TP	2	77190789	57895833	889	11039	251	2									
CLNS1A	0	.	GRCh38	chr11	77625816	77625816	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacaggttcttttgattCttctagaaaataaaataccc	15	13	5	8	0	3	2	0	1	3	1	3	2	3	2	1	1	3	2	1	1	7	8	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.265G>T	p.Glu89Ter	p.E89*	ENST00000525428	3/7	76	40	36	90	90	0	strelka-varscan-mutect	CLNS1A,stop_gained,p.Glu89Ter,ENST00000525428,NM_001293.2;CLNS1A,stop_gained,p.Glu89Ter,ENST00000525064,NM_001311201.1;CLNS1A,stop_gained,p.Glu89Ter,ENST00000528364,NM_001311199.1;CLNS1A,intron_variant,,ENST00000263309,NM_001311200.1;CLNS1A,intron_variant,,ENST00000532069,;CLNS1A,missense_variant,p.Arg43Ile,ENST00000527133,;CLNS1A,upstream_gene_variant,,ENST00000526009,;CLNS1A,upstream_gene_variant,,ENST00000527265,;CLNS1A,upstream_gene_variant,,ENST00000527299,;CLNS1A,upstream_gene_variant,,ENST00000525359,;	A	ENST00000525428	Transcript	stop_gained,splice_region_variant	356/2993	265/714	89/237	E/*	Gaa/Taa		1		-1	CLNS1A	HGNC	HGNC:2080	protein_coding	YES	CCDS8252.1	ENSP00000433919	P54105		UPI0000044777	NM_001293.2			3/7		Low_complexity_(Seg):seg,hmmpanther:PTHR21399,Pfam_domain:PF03517																	HIGH	1	SNV	1			1										PASS		rs1284777048	.												A	4	1	39	77625816	77625816	C	A	1	0	0	0	0	0	1	0	0	3318	927	32	2		2	CLNS1A	11	77625816	Nonsense_Mutation	SNP	C	C3N-00175_TP	435027	77625816	57460806	890	11040											
INTS4	0	.	GRCh38	chr11	77991153	77991153	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgactactccctctacgctTtccgcctcgacaggcttcct	5	12	6	18	3	1	1	0	1	1	0	5	2	4	1	4	1	2	2	4	1	2	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.201A>T	p.Glu67Asp	p.E67D	ENST00000534064	2/23	180	121	59	145	145	0	strelka-varscan-mutect	INTS4,missense_variant,p.Glu67Asp,ENST00000534064,NM_033547.3;INTS4,missense_variant,p.Glu67Asp,ENST00000529807,;INTS4,missense_variant,p.Glu67Asp,ENST00000527522,;INTS4,missense_variant,p.Glu67Asp,ENST00000433818,;INTS4,missense_variant,p.Glu67Asp,ENST00000534408,;INTS4,missense_variant,p.Glu67Asp,ENST00000524766,;	A	ENST00000534064	Transcript	missense_variant	236/3156	201/2892	67/963	E/D	gaA/gaT		1		-1	INTS4	HGNC	HGNC:25048	protein_coding	YES	CCDS31644.1	ENSP00000434466	Q96HW7		UPI00001FB00A	NM_033547.3	tolerated(0.22)		2/23		hmmpanther:PTHR20938:SF0,hmmpanther:PTHR20938,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	77991153	77991153	T	A	1	0	0	0	0	1	0	0	0	7682	1838	64	4		4	INTS4	11	77991153	Missense_Mutation	SNP	T	C3N-00175_TP	365337	77991153	57095469	891	11041											
DLG2	0	.	GRCh38	chr11	83962948	83962948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtaccttcctggagagatgGgtggcagggaggttttatat	9	12	15	5	0	0	1	0	0	0	1	1	4	1	3	2	5	1	3	2	5	3	5			C3N-00175_TP	C3N-00175_NB	G	G																c.1277C>A	p.Pro426His	p.P426H	ENST00000376104	14/28	360	285	75	254	254	0	strelka-varscan-mutect	DLG2,missense_variant,p.Pro321His,ENST00000398309,NM_001364.3;DLG2,missense_variant,p.Pro360His,ENST00000280241,NM_001206769.1;DLG2,missense_variant,p.Pro426His,ENST00000376104,NM_001142699.1;DLG2,missense_variant,p.Pro270His,ENST00000418306,NM_001142700.1;DLG2,missense_variant,p.Pro288His,ENST00000531015,;DLG2,missense_variant,p.Pro321His,ENST00000532653,NM_001300983.1;DLG2,missense_variant,p.Pro321His,ENST00000524982,;DLG2,missense_variant,p.Pro260His,ENST00000330014,;DLG2,missense_variant,p.Pro360His,ENST00000398301,;DLG2,downstream_gene_variant,,ENST00000398299,;DLG2,non_coding_transcript_exon_variant,,ENST00000529111,;	T	ENST00000376104	Transcript	missense_variant	1589/5139	1277/2928	426/975	P/H	cCc/cAc	COSM140667	1		-1	DLG2	HGNC	HGNC:2901	protein_coding	YES	CCDS44690.1	ENSP00000365272	Q15700		UPI0000E59399	NM_001142699.1	deleterious(0.01)		14/28		hmmpanther:PTHR23119:SF6,hmmpanther:PTHR23119,PIRSF_domain:PIRSF001741,Pfam_domain:PF10600											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	39	83962948	83962948	G	T	1	0	0	0	0	1	0	0	0	4362	1232	43	2		2	DLG2	11	83962948	Missense_Mutation	SNP	G	C3N-00175_TP	5971795	83962948	51123674	892	11042											
DLG2	0	.	GRCh38	chr11	84317096	84317096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactcctgacggcatccatcCcatcggacccccggctgcag	7	6	9	19	3	0	1	0	1	0	0	4	2	3	2	5	3	1	3	5	3	0	0	rs781269823		C3N-00175_TP	C3N-00175_NB	C	C																c.50G>T	p.Gly17Val	p.G17V	ENST00000280241	1/22	180	122	58	183	183	0	strelka-varscan-mutect	DLG2,missense_variant,p.Gly17Val,ENST00000280241,NM_001206769.1;DLG2,missense_variant,p.Gly17Val,ENST00000398301,;DLG2,intron_variant,,ENST00000398309,NM_001364.3;DLG2,intron_variant,,ENST00000376104,NM_001142699.1;DLG2,intron_variant,,ENST00000532653,NM_001300983.1;DLG2,intron_variant,,ENST00000524982,;DLG2,intron_variant,,ENST00000527466,;DLG2,intron_variant,,ENST00000529111,;	A	ENST00000280241	Transcript	missense_variant	244/7730	50/2730	17/909	G/V	gGg/gTg	rs781269823,COSM3687687	1		-1	DLG2	HGNC	HGNC:2901	protein_coding		CCDS55782.1	ENSP00000280241	Q15700		UPI0000577A76	NM_001206769.1	tolerated_low_confidence(0.1)		1/22													0,1						MODERATE		SNV	5		0,1	1										PASS		rs781269823	.												A	3	1	39	84317096	84317096	C	A	1	0	0	0	0	1	0	0	0	4362	623	22	2		2	DLG2	11	84317096	Missense_Mutation	SNP	C	C3N-00175_TP	354148	84317096	50769526	893	11043											
CTSC	0	.	GRCh38	chr11	88294499	88294499	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caataaggtatgggaagccgCcttcacagcctgaagatgaa	14	7	11	9	1	1	3	1	2	0	1	1	4	1	4	3	2	2	1	3	2	6	3			C3N-00175_TP	C3N-00175_NB	C	C																c.899G>C	p.Gly300Ala	p.G300A	ENST00000227266	7/7	281	218	63	287	287	0	strelka-varscan-mutect	CTSC,missense_variant,p.Gly300Ala,ENST00000227266,NM_001814.4;CTSC,downstream_gene_variant,,ENST00000527018,;CTSC,non_coding_transcript_exon_variant,,ENST00000533897,;	G	ENST00000227266	Transcript	missense_variant	1014/1921	899/1392	300/463	G/A	gGc/gCc	CM010202	1		-1	CTSC	HGNC	HGNC:2528	protein_coding	YES	CCDS8282.1	ENSP00000227266	P53634		UPI000006D22D	NM_001814.4	deleterious(0)		7/7		hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF354,Pfam_domain:PF00112,Gene3D:3.90.70.10,SMART_domains:SM00645,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	39	88294499	88294499	C	G	1	0	0	0	0	1	0	0	0	3840	739	26	4		4	CTSC	11	88294499	Missense_Mutation	SNP	C	C3N-00175_TP	3977403	88294499	46792123	894	11044											
GRM5	0	.	GRCh38	chr11	89047387	89047387	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaggtatgttgaaaagctgGagcaaattctggacctgaat	13	11	12	5	0	1	3	0	3	1	0	1	5	1	5	1	3	2	4	1	3	5	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.486C>A	p.=	p.L162L	ENST00000305447	1/9	204	173	31	179	179	0	strelka-varscan-mutect	GRM5,synonymous_variant,p.=,ENST00000455756,NM_000842.4;GRM5,synonymous_variant,p.=,ENST00000305447,NM_001143831.2;GRM5,synonymous_variant,p.=,ENST00000305432,;GRM5,synonymous_variant,p.=,ENST00000393294,;GRM5,upstream_gene_variant,,ENST00000449371,;	T	ENST00000305447	Transcript	synonymous_variant	636/4571	486/3639	162/1212	L	ctC/ctA		1		-1	GRM5	HGNC	HGNC:4597	protein_coding	YES	CCDS44694.1	ENSP00000306138	P41594		UPI000012F081	NM_001143831.2			1/9		Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,PROSITE_patterns:PS00979,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30,Superfamily_domains:SSF53822																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	89047387	89047387	G	T	1	0	0	0	0	0	0	0	1	6682	1161	41	2		2	GRM5	11	89047387	Silent	SNP	G	C3N-00175_TP	752888	89047387	46039235	895	11045											
GRM5	0	.	GRCh38	chr11	89047665	89047665	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggtatgcagcatggcctCcactctctgaatgccatact	9	10	9	13	0	1	1	0	1	1	0	3	1	2	1	3	2	4	3	3	2	3	2			C3N-00175_TP	C3N-00175_NB	C	C																c.208G>T	p.Glu70Ter	p.E70*	ENST00000305447	1/9	501	391	110	417	417	0	strelka-varscan-mutect	GRM5,stop_gained,p.Glu70Ter,ENST00000455756,NM_000842.4;GRM5,stop_gained,p.Glu70Ter,ENST00000305447,NM_001143831.2;GRM5,stop_gained,p.Glu70Ter,ENST00000305432,;GRM5,stop_gained,p.Glu70Ter,ENST00000393294,;GRM5,upstream_gene_variant,,ENST00000449371,;	A	ENST00000305447	Transcript	stop_gained	358/4571	208/3639	70/1212	E/*	Gag/Tag	COSM5553710,COSM5553711	1		-1	GRM5	HGNC	HGNC:4597	protein_coding	YES	CCDS44694.1	ENSP00000306138	P41594		UPI000012F081	NM_001143831.2			1/9		Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30,Superfamily_domains:SSF53822											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												A	4	1	39	89047665	89047665	C	A	1	0	0	0	0	0	1	0	0	6682	864	30	2		2	GRM5	11	89047665	Nonsense_Mutation	SNP	C	C3N-00175_TP	278	89047665	46038957	896	11046											
NAALAD2	0	.	GRCh38	chr11	90134764	90134764	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcaagaagccatggcGgaatccaggggccgtctgta	9	7	14	11	2	2	1	1	0	1	1	4	2	4	2	4	5	1	1	4	5	4	1	rs770197026		C3N-00175_TP	C3N-00175_NB	G	G																c.6G>C	p.=	p.A2A	ENST00000534061	1/19	250	223	27	226	226	0	strelka-varscan-mutect	NAALAD2,synonymous_variant,p.=,ENST00000534061,NM_005467.3;NAALAD2,synonymous_variant,p.=,ENST00000321955,NM_001300930.1;NAALAD2,synonymous_variant,p.=,ENST00000525171,;NAALAD2,synonymous_variant,p.=,ENST00000375944,;NAALAD2,synonymous_variant,p.=,ENST00000525497,;NAALAD2,upstream_gene_variant,,ENST00000526637,;NAALAD2,synonymous_variant,p.=,ENST00000527493,;NAALAD2,non_coding_transcript_exon_variant,,ENST00000524501,;NAALAD2,non_coding_transcript_exon_variant,,ENST00000529090,;	C	ENST00000534061	Transcript	synonymous_variant	236/3600	6/2223	2/740	A	gcG/gcC	rs770197026	1		1	NAALAD2	HGNC	HGNC:14526	protein_coding	YES	CCDS8288.1	ENSP00000432481	Q9Y3Q0		UPI0000031A85	NM_005467.3			1/19		hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF38																	LOW	1	SNV	1			1										PASS		rs770197026	.												C	2	2	39	90134764	90134764	G	C	1	0	0	0	0	0	0	0	1	10132	1103	39	4		4	NAALAD2	11	90134764	Silent	SNP	G	C3N-00175_TP	1087099	90134764	44951858	897	11047											
FAT3	0	.	GRCh38	chr11	92810072	92810072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaagccgtggaccccgaCattggtaagtcagttgcagg	9	9	13	10	2	2	0	2	0	0	0	2	2	2	1	3	3	2	4	3	3	2	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.9027C>A	p.Asp3009Glu	p.D3009E	ENST00000525166	12/27	114	85	29	94	94	0	strelka-varscan-mutect	FAT3,missense_variant,p.Asp3159Glu,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Asp3009Glu,ENST00000525166,;	A	ENST00000525166	Transcript	missense_variant	9049/18699	9027/13320	3009/4439	D/E	gaC/gaA		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		deleterious(0)		12/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	92810072	92810072	C	A	1	0	0	0	0	1	0	0	0	5551	492	17	2		2	FAT3	11	92810072	Missense_Mutation	SNP	C	C3N-00175_TP	2675308	92810072	42276550	898	11048											
FAT3	0	.	GRCh38	chr11	92831708	92831708	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catctggcatcatcatcctgGagcagccactggaccgtgag	9	8	11	13	1	3	1	2	1	1	0	4	3	4	3	3	3	2	2	3	3	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.9118G>C	p.Glu3040Gln	p.E3040Q	ENST00000525166	13/27	233	170	63	223	223	0	strelka-varscan-mutect	FAT3,missense_variant,p.Glu3190Gln,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Glu3040Gln,ENST00000525166,;	C	ENST00000525166	Transcript	missense_variant	9140/18699	9118/13320	3040/4439	E/Q	Gag/Cag		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		deleterious(0.01)		13/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	39	92831708	92831708	G	C	1	0	0	0	0	1	0	0	0	5551	1175	41	4		4	FAT3	11	92831708	Missense_Mutation	SNP	G	C3N-00175_TP	21636	92831708	42254914	899	11049											
FAT3	0	.	GRCh38	chr11	92840583	92840583	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaataagccagtgggcaccAgcatcttgcagctggtggtg	11	8	13	9	0	1	0	0	0	1	0	1	0	1	0	2	3	4	4	2	3	3	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.9940A>T	p.Ser3314Cys	p.S3314C	ENST00000525166	17/27	132	100	32	88	88	0	strelka-varscan-mutect	FAT3,missense_variant,p.Ser3464Cys,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Ser3314Cys,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000533797,;	T	ENST00000525166	Transcript	missense_variant	9962/18699	9940/13320	3314/4439	S/C	Agc/Tgc		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		deleterious(0)		17/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	92840583	92840583	A	T	1	0	0	0	0	1	0	0	0	5551	188	7	4		4	FAT3	11	92840583	Missense_Mutation	SNP	A	C3N-00175_TP	8875	92840583	42246039	900	11050											
FAT3	0	.	GRCh38	chr11	92844478	92844478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaactggacatgctgtttgCggtggagatgcacagcagcg	9	8	14	10	2	0	1	0	0	0	1	0	3	0	2	1	3	6	4	1	3	1	1	rs187335351		C3N-00175_TP	C3N-00175_NB	C	C																c.10661C>A	p.Ala3554Glu	p.A3554E	ENST00000525166	18/27	293	205	88	277	277	0	strelka-varscan-mutect	FAT3,missense_variant,p.Ala3704Glu,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Ala3554Glu,ENST00000525166,;FAT3,missense_variant,p.Ala39Glu,ENST00000533797,;	A	ENST00000525166	Transcript	missense_variant	10683/18699	10661/13320	3554/4439	A/E	gCg/gAg	rs187335351	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		tolerated(0.09)		18/27		hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026																	MODERATE	1	SNV	5			1										PASS		rs187335351	.												A	3	1	39	92844478	92844478	C	A	1	0	0	0	0	1	0	0	0	5551	768	27	1		1	FAT3	11	92844478	Missense_Mutation	SNP	C	C3N-00175_TP	3895	92844478	42242144	901	11051											
PANX1	0	.	GRCh38	chr11	94129493	94129493	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgcaggagatctcgattGgtaagcctcgcccaggacgg	8	7	14	12	5	1	1	0	0	1	1	4	4	1	2	2	4	1	2	2	4	1	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.181G>C	p.Gly61Arg	p.G61R	ENST00000227638	1/5	66	49	17	65	65	0	strelka-varscan-mutect	PANX1,missense_variant,p.Gly61Arg,ENST00000227638,NM_015368.3;PANX1,missense_variant,p.Gly61Arg,ENST00000436171,;	C	ENST00000227638	Transcript	missense_variant,splice_region_variant	566/2769	181/1281	61/426	G/R	Ggt/Cgt		1		1	PANX1	HGNC	HGNC:8599	protein_coding	YES	CCDS8296.1	ENSP00000227638	Q96RD7	A0A024R397	UPI000004C63F	NM_015368.3	deleterious(0.03)		1/5		Pfam_domain:PF00876,PROSITE_profiles:PS51013,hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	94129493	94129493	G	C	1	0	0	0	0	1	0	0	0	11501	1362	47	4		4	PANX1	11	94129493	Missense_Mutation	SNP	G	C3N-00175_TP	1285015	94129493	40957129	902	11052											
SESN3	0	.	GRCh38	chr11	95230835	95230835	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtagttggcggcggccGacgggctgccgccgccccgg	3	4	19	15	7	0	0	0	0	0	0	0	1	0	0	5	6	1	4	5	6	1	2			C3N-00175_TP	C3N-00175_NB	G	G																c.26C>A	p.Ser9Ter	p.S9*	ENST00000536441	1/10	286	254	32	230	230	0	strelka-varscan-mutect	SESN3,stop_gained,p.Ser9Ter,ENST00000536441,NM_144665.3;SESN3,stop_gained,p.Ser9Ter,ENST00000416495,;SESN3,intron_variant,,ENST00000278499,NM_001271594.1;SESN3,intron_variant,,ENST00000634898,;SESN3,intron_variant,,ENST00000542176,;RP11-712B9.2,intron_variant,,ENST00000543150,;RP11-712B9.2,intron_variant,,ENST00000536683,;RP11-712B9.2,intron_variant,,ENST00000534891,;RP11-712B9.2,upstream_gene_variant,,ENST00000540692,;RP11-712B9.2,upstream_gene_variant,,ENST00000543573,;SESN3,intron_variant,,ENST00000537480,;	T	ENST00000536441	Transcript	stop_gained	363/9558	26/1479	9/492	S/*	tCg/tAg	COSM3368612,COSM3368613	1		-1	SESN3	HGNC	HGNC:23060	protein_coding	YES	CCDS8303.1	ENSP00000441927	P58005		UPI0000135891	NM_144665.3			1/10		hmmpanther:PTHR12474:SF4,hmmpanther:PTHR12474											1,1						HIGH	1	SNV	2		1,1	1										PASS		rs1318902387	.												T	4	4	39	95230835	95230835	G	T	1	0	0	0	0	0	1	0	0	14403	1059	37	1		1	SESN3	11	95230835	Nonsense_Mutation	SNP	G	C3N-00175_TP	1101342	95230835	39855787	903	11053											
ANGPTL5	0	.	GRCh38	chr11	101900467	101900467	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccagataatcacaccaCaacctctggaaatcaattat	16	9	3	13	0	3	1	2	0	1	1	4	2	4	2	4	1	1	0	4	1	5	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.624G>T	p.Leu208Phe	p.L208F	ENST00000334289	7/9	168	129	39	310	310	0	strelka-varscan-mutect	ANGPTL5,missense_variant,p.Leu208Phe,ENST00000334289,NM_178127.4;ANGPTL5,missense_variant,p.Leu143Phe,ENST00000534527,;	A	ENST00000334289	Transcript	missense_variant	1220/2368	624/1167	208/388	L/F	ttG/ttT		1		-1	ANGPTL5	HGNC	HGNC:19705	protein_coding	YES	CCDS8312.1	ENSP00000335255	Q86XS5		UPI000015F945	NM_178127.4	tolerated(0.05)		7/9		Gene3D:3.90.215.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF185,SMART_domains:SM00186,Superfamily_domains:SSF56496																	MODERATE	1	SNV	1			1										PASS		rs1309081164	.												A	3	1	39	101900467	101900467	C	A	1	0	0	0	0	1	0	0	0	715	477	17	2		2	ANGPTL5	11	101900467	Missense_Mutation	SNP	C	C3N-00175_TP	6669632	101900467	33186155	904	11054											
MMP20	0	.	GRCh38	chr11	102606539	102606539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgtctgaggcttaccggtCcttgaagagcaggagctcct	7	10	13	11	2	1	3	0	2	1	1	3	4	3	4	3	3	3	3	3	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.949G>T	p.Asp317Tyr	p.D317Y	ENST00000260228	6/10	429	377	52	541	540	1	strelka-varscan-mutect	MMP20,missense_variant,p.Asp317Tyr,ENST00000260228,NM_004771.3;RP11-817J15.2,upstream_gene_variant,,ENST00000542119,;RP11-817J15.2,upstream_gene_variant,,ENST00000544115,;MMP20,non_coding_transcript_exon_variant,,ENST00000544938,;	A	ENST00000260228	Transcript	missense_variant	962/1956	949/1452	317/483	D/Y	Gac/Tac		1		-1	MMP20	HGNC	HGNC:7167	protein_coding	YES	CCDS8318.1	ENSP00000260228	O60882		UPI000013D0B3	NM_004771.3	deleterious(0)		6/10		PROSITE_profiles:PS51642,hmmpanther:PTHR10201:SF125,hmmpanther:PTHR10201,PIRSF_domain:PIRSF001191,Gene3D:2.110.10.10,SMART_domains:SM00120,Superfamily_domains:SSF50923																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	102606539	102606539	C	A	1	0	0	0	0	1	0	0	0	9622	869	30	2		2	MMP20	11	102606539	Missense_Mutation	SNP	C	C3N-00175_TP	706072	102606539	32480083	905	11055											
MMP8	0	.	GRCh38	chr11	102721475	102721475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taccttggcctggctgaaagGcatgagcaaggattccattg	10	10	12	9	0	0	2	0	2	0	0	1	3	1	3	3	4	2	3	3	4	3	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.548C>A	p.Ala183Asp	p.A183D	ENST00000236826	4/10	175	131	44	235	234	1	strelka-varscan-mutect	MMP8,missense_variant,p.Ala183Asp,ENST00000236826,NM_002424.2,NM_001304441.1,NM_001304442.1;MMP8,missense_variant,p.Ala159Asp,ENST00000438475,;MMP8,3_prime_UTR_variant,,ENST00000528662,;MMP8,3_prime_UTR_variant,,ENST00000533258,;MMP8,downstream_gene_variant,,ENST00000532799,;MMP8,downstream_gene_variant,,ENST00000531168,;	T	ENST00000236826	Transcript	missense_variant	647/3056	548/1404	183/467	A/D	gCc/gAc		1		-1	MMP8	HGNC	HGNC:7175	protein_coding	YES	CCDS8320.1	ENSP00000236826	P22894		UPI00000422BB	NM_002424.2,NM_001304441.1,NM_001304442.1	deleterious(0)		4/10		Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,Prints_domain:PR00138,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF137,SMART_domains:SM00235,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		rs1215016736	.												T	3	4	39	102721475	102721475	G	T	1	0	0	0	0	1	0	0	0	9631	1203	42	2		2	MMP8	11	102721475	Missense_Mutation	SNP	G	C3N-00175_TP	114936	102721475	32365147	906	11056											
ATM	0	.	GRCh38	chr11	108316030	108316030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactacgaacatatgaacacGaagcaatgtggggcaaagcc	16	5	11	9	2	0	1	0	1	0	0	0	4	0	1	1	2	5	2	1	2	7	2	rs864622251		C3N-00175_TP	C3N-00175_NB	G	G																c.6115G>A	p.Glu2039Lys	p.E2039K	ENST00000278616	42/63	315	222	93	449	447	2	strelka-varscan-mutect	ATM,missense_variant,p.Glu2039Lys,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Glu2039Lys,ENST00000452508,;C11orf65,intron_variant,,ENST00000525729,;ATM,non_coding_transcript_exon_variant,,ENST00000532765,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,downstream_gene_variant,,ENST00000529588,;	A	ENST00000278616	Transcript	missense_variant	6500/13147	6115/9171	2039/3056	E/K	Gaa/Aaa	rs864622251,CM094668,COSM1561120,COSM200671	1		1	ATM	HGNC	HGNC:795	protein_coding	YES	CCDS31669.1	ENSP00000278616	Q13315	A0A024R3C7	UPI000016B511	NM_000051.3	deleterious(0)		42/63		PROSITE_profiles:PS51189,hmmpanther:PTHR11139:SF72,hmmpanther:PTHR11139										uncertain_significance	0,0,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		rs864622251	.												A	3	1	39	108316030	108316030	G	A	1	0	0	0	0	1	0	0	0	1261	1059	37	1		1	ATM	11	108316030	Missense_Mutation	SNP	G	C3N-00175_TP	5594555	108316030	26770592	907	11057											
SIDT2	0	.	GRCh38	chr11	117182567	117182567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggactcggtaattgtcaagGtgacctccaacaaggccttc	10	10	10	11	1	1	1	1	1	0	0	4	2	2	2	3	4	1	1	3	4	4	3			C3N-00175_TP	C3N-00175_NB	G	G																c.565G>T	p.Val189Leu	p.V189L	ENST00000324225	5/26	184	143	41	301	301	0	strelka-varscan-mutect	SIDT2,missense_variant,p.Val189Leu,ENST00000324225,NM_001040455.1;SIDT2,missense_variant,p.Val189Leu,ENST00000620360,;SIDT2,missense_variant,p.Val189Leu,ENST00000431081,;SIDT2,missense_variant,p.Val189Leu,ENST00000278951,;SIDT2,missense_variant,p.Val189Leu,ENST00000628876,;SIDT2,missense_variant,p.Val39Leu,ENST00000524842,;SIDT2,missense_variant,p.Val88Leu,ENST00000531353,;SIDT2,downstream_gene_variant,,ENST00000532960,;SIDT2,non_coding_transcript_exon_variant,,ENST00000530948,;SIDT2,intron_variant,,ENST00000525339,;SIDT2,non_coding_transcript_exon_variant,,ENST00000531255,;SIDT2,upstream_gene_variant,,ENST00000529441,;SIDT2,downstream_gene_variant,,ENST00000528397,;	T	ENST00000324225	Transcript	missense_variant	1096/4406	565/2499	189/832	V/L	Gtg/Ttg	COSM126166,COSM4617081,COSM4617082	1		1	SIDT2	HGNC	HGNC:24272	protein_coding	YES	CCDS31682.1	ENSP00000314023	Q8NBJ9		UPI000004BA68	NM_001040455.1	deleterious(0)		5/26		hmmpanther:PTHR12185,hmmpanther:PTHR12185:SF16,Pfam_domain:PF13965											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs1309515919	.												T	3	4	39	117182567	117182567	G	T	1	0	0	0	0	1	0	0	0	14567	1261	44	2		2	SIDT2	11	117182567	Missense_Mutation	SNP	G	C3N-00175_TP	8866537	117182567	17904055	908	11058											
TMPRSS4	0	.	GRCh38	chr11	118094849	118094849	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgatcaacctctgaacAgcctcggtaagttcaggtcc	11	9	9	12	1	3	2	2	2	1	0	5	2	4	2	3	2	3	2	3	2	3	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.37A>T	p.Ser13Cys	p.S13C	ENST00000618855	2/13	158	118	40	245	245	0	strelka-varscan-mutect	TMPRSS4,missense_variant,p.Ser11Cys,ENST00000534111,NM_001173551.1;TMPRSS4,missense_variant,p.Ser13Cys,ENST00000618855,NM_019894.3,NM_001290094.1;TMPRSS4,missense_variant,p.Ser13Cys,ENST00000616579,;TMPRSS4,missense_variant,p.Ser13Cys,ENST00000437212,;TMPRSS4,missense_variant,p.Ser13Cys,ENST00000522824,NM_001083947.1;TMPRSS4,missense_variant,p.Ser11Cys,ENST00000523251,NM_001173552.1;TMPRSS4,missense_variant,p.Ser11Cys,ENST00000522151,;TMPRSS4,5_prime_UTR_variant,,ENST00000522307,NM_001290096.1;TMPRSS4,upstream_gene_variant,,ENST00000517544,;TMPRSS4,missense_variant,p.Ser11Cys,ENST00000517483,;TMPRSS4,missense_variant,p.Ser11Cys,ENST00000519236,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000519126,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000522462,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000520063,;	T	ENST00000618855	Transcript	missense_variant	328/3531	37/1314	13/437	S/C	Agc/Tgc		1		1	TMPRSS4	HGNC	HGNC:11878	protein_coding	YES	CCDS31684.1	ENSP00000477949	Q9NRS4		UPI00001FA467	NM_019894.3,NM_001290094.1	tolerated(0.05)		2/13																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	118094849	118094849	A	T	1	0	0	0	0	1	0	0	0	16725	188	7	4		4	TMPRSS4	11	118094849	Missense_Mutation	SNP	A	C3N-00175_TP	912282	118094849	16991773	909	11059											
ROBO3	0	.	GRCh38	chr11	124879250	124879250	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccatgctgggcatccgTgaagcgaggcctgctggctt	6	8	14	13	2	0	1	0	1	0	0	1	2	1	1	3	3	4	4	3	3	1	1	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.3594T>A	p.=	p.R1198R	ENST00000397801	24/28	90	65	25	136	136	0	strelka-varscan-mutect	ROBO3,synonymous_variant,p.=,ENST00000397801,NM_022370.3;ROBO3,synonymous_variant,p.=,ENST00000538940,;ROBO3,5_prime_UTR_variant,,ENST00000543966,;ROBO4,downstream_gene_variant,,ENST00000306534,NM_019055.5;RP11-664I21.5,upstream_gene_variant,,ENST00000524453,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525482,;ROBO3,non_coding_transcript_exon_variant,,ENST00000528820,;ROBO3,non_coding_transcript_exon_variant,,ENST00000528144,;ROBO3,non_coding_transcript_exon_variant,,ENST00000531075,;ROBO3,downstream_gene_variant,,ENST00000526551,;ROBO3,downstream_gene_variant,,ENST00000532472,;ROBO3,downstream_gene_variant,,ENST00000531545,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527245,;ROBO3,non_coding_transcript_exon_variant,,ENST00000529658,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525448,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527196,;ROBO3,non_coding_transcript_exon_variant,,ENST00000524971,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525304,;ROBO4,downstream_gene_variant,,ENST00000534407,;ROBO3,downstream_gene_variant,,ENST00000534598,;ROBO3,downstream_gene_variant,,ENST00000528068,;ROBO3,downstream_gene_variant,,ENST00000531888,;ROBO3,downstream_gene_variant,,ENST00000530647,;ROBO3,downstream_gene_variant,,ENST00000531119,;	A	ENST00000397801	Transcript	synonymous_variant	3786/4569	3594/4161	1198/1386	R	cgT/cgA		1		1	ROBO3	HGNC	HGNC:13433	protein_coding	YES	CCDS44755.1	ENSP00000380903	Q96MS0		UPI000035AA82	NM_022370.3			24/28		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF724																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	124879250	124879250	T	A	1	0	0	0	0	0	0	0	1	13693	1683	59	4		4	ROBO3	11	124879250	Silent	SNP	T	C3N-00175_TP	6784401	124879250	10207372	910	11060											
PKNOX2	0	.	GRCh38	chr11	125411843	125411843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaccaatataatgcgttCttggctcttccagcatctca	9	13	6	13	1	3	0	1	0	3	0	5	0	4	0	3	1	3	3	3	1	3	5	rs780034819		C3N-00175_TP	C3N-00175_NB	C	C																c.914C>T	p.Ser305Phe	p.S305F	ENST00000298282	10/13	160	136	24	244	244	0	strelka-varscan-mutect	PKNOX2,missense_variant,p.Ser305Phe,ENST00000298282,NM_022062.2;PKNOX2,non_coding_transcript_exon_variant,,ENST00000530517,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000531116,;PKNOX2,3_prime_UTR_variant,,ENST00000532623,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000526955,;	T	ENST00000298282	Transcript	missense_variant	1185/3687	914/1419	305/472	S/F	tCt/tTt	rs780034819,COSM924518	1		1	PKNOX2	HGNC	HGNC:16714	protein_coding	YES	CCDS41730.1	ENSP00000298282	Q96KN3		UPI000023271E	NM_022062.2	deleterious(0)		10/13		PROSITE_profiles:PS50071,hmmpanther:PTHR11850:SF53,hmmpanther:PTHR11850,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs780034819	.												T	3	4	39	125411843	125411843	C	T	1	0	0	0	0	1	0	0	0	12079	913	32	3		3	PKNOX2	11	125411843	Missense_Mutation	SNP	C	C3N-00175_TP	532593	125411843	9674779	911	11061											
ARHGAP32	0	.	GRCh38	chr11	128971108	128971108	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggcagacgcagggtcatCcatggctcgaggttcaggtg	9	7	16	9	2	2	1	2	0	0	1	4	3	3	1	1	5	0	4	1	5	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.4063G>T	p.Asp1355Tyr	p.D1355Y	ENST00000310343	22/22	59	37	22	91	91	0	strelka-varscan-mutect	ARHGAP32,missense_variant,p.Asp1355Tyr,ENST00000310343,NM_001142685.1;ARHGAP32,missense_variant,p.Asp1006Tyr,ENST00000392657,NM_014715.3;ARHGAP32,missense_variant,p.Asp1006Tyr,ENST00000527272,;ARHGAP32,3_prime_UTR_variant,,ENST00000524655,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000526162,;	A	ENST00000310343	Transcript	missense_variant	4063/10111	4063/6264	1355/2087	D/Y	Gat/Tat		1		-1	ARHGAP32	HGNC	HGNC:17399	protein_coding	YES	CCDS44769.1	ENSP00000310561	A7KAX9		UPI000159C61F	NM_001142685.1	deleterious_low_confidence(0.02)		22/22		hmmpanther:PTHR15729:SF9,hmmpanther:PTHR15729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	128971108	128971108	C	A	1	0	0	0	0	1	0	0	0	1006	855	30	2		2	ARHGAP32	11	128971108	Missense_Mutation	SNP	C	C3N-00175_TP	3559265	128971108	6115514	912	11062											
ADAMTS8	0	.	GRCh38	chr11	130405883	130405883	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgtcagaggctctggcAagggccggaagctctgcagg	8	6	16	11	1	3	1	1	0	2	1	3	2	3	2	1	5	2	5	1	5	2	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2345T>G	p.Leu782Trp	p.L782W	ENST00000257359	9/9	116	78	38	182	182	0	strelka-varscan-mutect	ADAMTS8,missense_variant,p.Leu782Trp,ENST00000257359,NM_007037.4;RP11-121M22.1,downstream_gene_variant,,ENST00000602376,;RP11-121M22.1,downstream_gene_variant,,ENST00000616197,;ADAMTS8,non_coding_transcript_exon_variant,,ENST00000531752,;	C	ENST00000257359	Transcript	missense_variant	3052/4010	2345/2670	782/889	L/W	tTg/tGg		1		-1	ADAMTS8	HGNC	HGNC:224	protein_coding	YES	CCDS41732.1	ENSP00000257359	Q9UP79		UPI000013CF5D	NM_007037.4	deleterious(0)		9/9		hmmpanther:PTHR13723:SF41,hmmpanther:PTHR13723,Pfam_domain:PF05986																	MODERATE	1	SNV	1			1										PASS		rs1279586383	.												C	3	2	39	130405883	130405883	A	C	1	0	0	0	0	1	0	0	0	316	131	5	5		5	ADAMTS8	11	130405883	Missense_Mutation	SNP	A	C3N-00175_TP	1434775	130405883	4680739	913	11063											
IQSEC3	0	.	GRCh38	chr12	138966	138966	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggcgagacctctgggCgggaggccccggaagccccc	7	2	17	15	3	1	1	0	0	1	1	1	4	1	3	5	5	2	1	5	5	1	0	rs201912061		C3N-00175_TP	C3N-00175_NB	C	C																c.1603C>A	p.=	p.R535R	ENST00000538872	4/14	65	60	5	79	79	0	strelka-varscan-mutect	IQSEC3,synonymous_variant,p.=,ENST00000538872,NM_001170738.1;IQSEC3,synonymous_variant,p.=,ENST00000382841,NM_015232.1;RP11-598F7.4,intron_variant,,ENST00000505893,;RP11-598F7.4,downstream_gene_variant,,ENST00000508953,;	A	ENST00000538872	Transcript	synonymous_variant	1721/7094	1603/3549	535/1182	R	Cgg/Agg	rs201912061	1		1	IQSEC3	HGNC	HGNC:29193	protein_coding	YES	CCDS53728.1	ENSP00000437554	Q9UPP2		UPI0000DBEEF0	NM_001170738.1			4/14																			LOW		SNV	5			1										PASS		rs201912061	.												A	2	1	39	138966	138966	C	A	1	0	0	0	0	0	0	0	1	7725	759	27	1		1	IQSEC3	12	138966	Silent	SNP	C	C3N-00175_TP		138966	133136343	914	11064											
ERC1	0	.	GRCh38	chr12	1183317	1183317	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaagagcatgcttcttctCtggcatcctcaggactgaaa	11	11	9	10	0	3	3	1	2	2	1	5	4	4	4	1	2	2	3	1	2	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2053C>T	p.=	p.L685L	ENST00000589028	10/18	171	108	63	135	135	0	strelka-varscan-mutect	ERC1,synonymous_variant,p.=,ENST00000543086,NM_178039.3;ERC1,synonymous_variant,p.=,ENST00000589028,NM_178040.3;ERC1,synonymous_variant,p.=,ENST00000397203,;ERC1,synonymous_variant,p.=,ENST00000355446,NM_001301248.1;ERC1,synonymous_variant,p.=,ENST00000360905,;ERC1,synonymous_variant,p.=,ENST00000546231,;ERC1,synonymous_variant,p.=,ENST00000611180,;ERC1,non_coding_transcript_exon_variant,,ENST00000536573,;ERC1,synonymous_variant,p.=,ENST00000440394,;ERC1,synonymous_variant,p.=,ENST00000347735,;ERC1,synonymous_variant,p.=,ENST00000542302,;ERC1,synonymous_variant,p.=,ENST00000545948,;ERC1,non_coding_transcript_exon_variant,,ENST00000538971,;	T	ENST00000589028	Transcript	synonymous_variant	2210/9202	2053/3351	685/1116	L	Ctg/Ttg		1		1	ERC1	HGNC	HGNC:17072	protein_coding	YES	CCDS8508.1	ENSP00000468263	Q8IUD2		UPI000007479C	NM_178040.3			10/18		Pfam_domain:PF10174,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	1183317	1183317	C	T	1	0	0	0	0	0	0	0	1	5059	912	32	3		3	ERC1	12	1183317	Silent	SNP	C	C3N-00175_TP	1044351	1183317	132091992	915	11065											
CACNA2D4	0	.	GRCh38	chr12	1844489	1844489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcgggaagcggtccaGggtgaacacgctggcctcgt	8	5	15	13	4	0	1	0	1	0	0	2	2	1	2	3	4	3	1	3	4	2	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2383C>A	p.Leu795Met	p.L795M	ENST00000382722	25/38	143	124	19	135	135	0	strelka-varscan-mutect	CACNA2D4,missense_variant,p.Leu795Met,ENST00000382722,NM_172364.4;CACNA2D4,missense_variant,p.Leu770Met,ENST00000587995,;CACNA2D4,missense_variant,p.Leu795Met,ENST00000586184,;CACNA2D4,missense_variant,p.Leu731Met,ENST00000588077,;CACNA2D4,missense_variant,p.Leu731Met,ENST00000585708,;CACNA2D4,missense_variant,p.Leu656Met,ENST00000585732,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000539048,;CACNA2D4,missense_variant,p.Leu76Met,ENST00000537784,;CACNA2D4,3_prime_UTR_variant,,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;	T	ENST00000382722	Transcript	missense_variant	2746/5475	2383/3414	795/1137	L/M	Ctg/Atg		1		-1	CACNA2D4	HGNC	HGNC:20202	protein_coding	YES	CCDS44785.1	ENSP00000372169	Q7Z3S7		UPI0000E593D9	NM_172364.4	tolerated(0.78)		25/38		hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF26,Pfam_domain:PF08473																	MODERATE	1	SNV	1			1										PASS		rs1404930260	.												T	3	4	39	1844489	1844489	G	T	1	0	0	0	0	1	0	0	0	2239	991	35	2		2	CACNA2D4	12	1844489	Missense_Mutation	SNP	G	C3N-00175_TP	661172	1844489	131430820	916	11066											
CACNA1C	0	.	GRCh38	chr12	2115304	2115304	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctggcccctgagcacatcCccaccccgggggctgccctg	4	5	13	19	1	0	1	0	1	0	0	1	1	1	1	7	4	2	3	7	4	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.130C>A	p.Pro44Thr	p.P44T	ENST00000347598	2/49	127	88	39	128	128	0	strelka-varscan-mutect	CACNA1C,missense_variant,p.Pro44Thr,ENST00000399655,NM_000719.6;CACNA1C,missense_variant,p.Pro44Thr,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Pro44Thr,ENST00000406454,;CACNA1C,missense_variant,p.Pro44Thr,ENST00000399617,NM_001167624.2;CACNA1C,missense_variant,p.Pro44Thr,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Pro44Thr,ENST00000335762,;CACNA1C,missense_variant,p.Pro44Thr,ENST00000480911,;CACNA1C,missense_variant,p.Pro44Thr,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,missense_variant,p.Pro44Thr,ENST00000344100,NM_001129829.1;CACNA1C,missense_variant,p.Pro44Thr,ENST00000327702,NM_001129830.2;CACNA1C,missense_variant,p.Pro44Thr,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Pro44Thr,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Pro44Thr,ENST00000399621,NM_001129834.1;CACNA1C,missense_variant,p.Pro44Thr,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Pro44Thr,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Pro44Thr,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Pro44Thr,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,missense_variant,p.Pro44Thr,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Pro44Thr,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Pro44Thr,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,missense_variant,p.Pro44Thr,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Pro44Thr,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Pro44Thr,ENST00000399644,NM_001129841.1;CACNA1C,missense_variant,p.Pro74Thr,ENST00000543114,;	A	ENST00000347598	Transcript	missense_variant	130/6655	130/6561	44/2186	P/T	Ccc/Acc		1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3	deleterious_low_confidence(0.01)		2/49		Prints_domain:PR01635,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188																	MODERATE	1	SNV	1			1										PASS		rs1057518456	.												A	3	1	39	2115304	2115304	C	A	1	0	0	0	0	1	0	0	0	2228	623	22	2		2	CACNA1C	12	2115304	Missense_Mutation	SNP	C	C3N-00175_TP	270815	2115304	131160005	917	11067											
CACNA1C	0	.	GRCh38	chr12	2664842	2664842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtgtgccaccggggaggCctggcaggacatcatgctgg	7	6	17	11	1	1	0	1	0	0	0	1	2	1	2	3	7	2	2	3	7	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.4394C>A	p.Ala1465Asp	p.A1465D	ENST00000347598	37/49	61	39	22	59	59	0	strelka-varscan-mutect	CACNA1C,missense_variant,p.Ala1417Asp,ENST00000399655,NM_000719.6;CACNA1C,missense_variant,p.Ala1417Asp,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Ala1417Asp,ENST00000406454,;CACNA1C,missense_variant,p.Ala1417Asp,ENST00000399617,NM_001167624.2;CACNA1C,missense_variant,p.Ala1417Asp,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Ala1442Asp,ENST00000335762,;CACNA1C,missense_variant,p.Ala1465Asp,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,missense_variant,p.Ala1439Asp,ENST00000344100,NM_001129829.1;CACNA1C,missense_variant,p.Ala1417Asp,ENST00000327702,NM_001129830.2;CACNA1C,missense_variant,p.Ala1445Asp,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Ala1437Asp,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Ala1417Asp,ENST00000399621,NM_001129834.1;CACNA1C,missense_variant,p.Ala1417Asp,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Ala1417Asp,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Ala1434Asp,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Ala1406Asp,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,missense_variant,p.Ala1406Asp,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Ala1404Asp,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Ala1417Asp,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,missense_variant,p.Ala1417Asp,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Ala1417Asp,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Ala1417Asp,ENST00000399644,NM_001129841.1;CACNA1C,missense_variant,p.Ala108Asp,ENST00000616390,;CACNA1C-AS2,downstream_gene_variant,,ENST00000545526,;CACNA1C,upstream_gene_variant,,ENST00000465934,;AC007618.3,downstream_gene_variant,,ENST00000366455,;	A	ENST00000347598	Transcript	missense_variant	4394/6655	4394/6561	1465/2186	A/D	gCc/gAc		1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3	deleterious(0.02)		37/49		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	2664842	2664842	C	A	1	0	0	0	0	1	0	0	0	2228	739	26	2		2	CACNA1C	12	2664842	Missense_Mutation	SNP	C	C3N-00175_TP	549538	2664842	130610467	918	11068											
FGF6	0	.	GRCh38	chr12	4445472	4445472	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcgagggcaccaccatGcccactaggatgcctaggaa	11	4	13	13	1	0	0	0	0	0	0	0	3	0	2	4	4	2	2	4	4	3	2	rs761583325		C3N-00175_TP	C3N-00175_NB	G	G																c.99C>A	p.=	p.G33G	ENST00000228837	1/3	203	176	27	255	255	0	strelka-varscan-mutect	FGF6,synonymous_variant,p.=,ENST00000228837,NM_020996.2;FGF6,upstream_gene_variant,,ENST00000543077,;	T	ENST00000228837	Transcript	synonymous_variant	143/743	99/627	33/208	G	ggC/ggA	rs761583325	1		-1	FGF6	HGNC	HGNC:3684	protein_coding	YES	CCDS8527.1	ENSP00000228837	P10767		UPI00000411BF	NM_020996.2			1/3		hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF25,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs761583325	.												T	2	4	39	4445472	4445472	G	T	1	0	0	0	0	0	0	0	1	5720	1306	46	2		2	FGF6	12	4445472	Silent	SNP	G	C3N-00175_TP	1780630	4445472	128829837	919	11069											
DYRK4	0	.	GRCh38	chr12	4593151	4593151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagttttgatgatgagcatGgcttctatctgaaggtgatg	9	14	13	5	1	2	5	0	5	2	0	2	6	2	5	0	2	1	3	0	2	2	4	rs371271508		C3N-00175_TP	C3N-00175_NB	G	G																c.268G>T	p.Gly90Cys	p.G90C	ENST00000540757	4/13	119	101	18	107	107	0	strelka-varscan-mutect	DYRK4,missense_variant,p.Gly90Cys,ENST00000540757,NM_003845.2;DYRK4,missense_variant,p.Gly205Cys,ENST00000543431,;DYRK4,missense_variant,p.Gly90Cys,ENST00000010132,;DYRK4,downstream_gene_variant,,ENST00000536645,;DYRK4,non_coding_transcript_exon_variant,,ENST00000536157,;DYRK4,downstream_gene_variant,,ENST00000539309,;DYRK4,downstream_gene_variant,,ENST00000542905,;DYRK4,downstream_gene_variant,,ENST00000539701,;DYRK4,downstream_gene_variant,,ENST00000537719,;DYRK4,downstream_gene_variant,,ENST00000538520,;	T	ENST00000540757	Transcript	missense_variant	428/3272	268/1563	90/520	G/C	Ggc/Tgc	rs371271508	1		1	DYRK4	HGNC	HGNC:3095	protein_coding	YES	CCDS8530.1	ENSP00000441755	Q9NR20		UPI000006E05C	NM_003845.2	deleterious(0.01)		4/13		hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF22																	MODERATE	1	SNV	1			1										PASS		rs371271508	.												T	3	4	39	4593151	4593151	G	T	1	0	0	0	0	1	0	0	0	4682	1348	47	2		2	DYRK4	12	4593151	Missense_Mutation	SNP	G	C3N-00175_TP	147679	4593151	128682158	920	11070											
AKAP3	0	.	GRCh38	chr12	4638115	4638115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttaccattttccagtcctGggcttggttgtctccaggag	5	14	10	12	0	1	0	0	0	1	0	4	1	3	1	5	3	1	2	5	3	1	5			C3N-00175_TP	C3N-00175_NB	G	G																c.82C>A	p.Gln28Lys	p.Q28K	ENST00000228850	4/6	192	138	54	248	247	1	strelka-varscan-mutect	AKAP3,missense_variant,p.Gln28Lys,ENST00000228850,NM_001278309.1;AKAP3,missense_variant,p.Gln28Lys,ENST00000545990,NM_006422.3;AKAP3,missense_variant,p.Gln28Lys,ENST00000540967,;AKAP3,missense_variant,p.Gln28Lys,ENST00000536414,;AKAP3,downstream_gene_variant,,ENST00000544636,;AKAP3,downstream_gene_variant,,ENST00000541484,;RP11-500M8.7,intron_variant,,ENST00000536588,;RP11-500M8.6,upstream_gene_variant,,ENST00000537929,;	T	ENST00000228850	Transcript	missense_variant	629/3339	82/2562	28/853	Q/K	Cag/Aag	COSM2068389,COSM2068390	1		-1	AKAP3	HGNC	HGNC:373	protein_coding	YES	CCDS8531.1	ENSP00000228850	O75969	V9HWD4	UPI000013C8DF	NM_001278309.1	tolerated(0.09)		4/6		hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF9,SMART_domains:SM00807											1,1						MODERATE		SNV	5		1,1	1										PASS		.	.												T	3	4	39	4638115	4638115	G	T	1	0	0	0	0	1	0	0	0	536	1357	47	2		2	AKAP3	12	4638115	Missense_Mutation	SNP	G	C3N-00175_TP	44964	4638115	128637194	921	11071											
ANO2	0	.	GRCh38	chr12	5732551	5732551	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccgtcgtgtttgtttccAatttctggacagcagactgg	7	14	10	10	2	1	1	0	0	1	1	4	2	3	2	2	2	1	3	2	2	1	3	rs373654644		C3N-00175_TP	C3N-00175_NB	A	A																c.1517T>G	p.Leu506Trp	p.L506W	ENST00000356134	16/27	60	52	8	86	86	0	strelka-varscan-mutect	ANO2,missense_variant,p.Leu506Trp,ENST00000327087,;ANO2,missense_variant,p.Leu506Trp,ENST00000356134,NM_001278597.1,NM_001278596.1;ANO2,missense_variant,p.Leu510Trp,ENST00000546188,;ANO2,missense_variant,p.Leu65Trp,ENST00000545860,;ANO2,non_coding_transcript_exon_variant,,ENST00000538154,;ANO2,non_coding_transcript_exon_variant,,ENST00000542326,;ANO2,non_coding_transcript_exon_variant,,ENST00000540543,;	C	ENST00000356134	Transcript	missense_variant	1589/3717	1517/3000	506/999	L/W	tTg/tGg	rs373654644	1		-1	ANO2	HGNC	HGNC:1183	protein_coding	YES	CCDS44807.2	ENSP00000348453	Q9NQ90		UPI00000715DF	NM_001278597.1,NM_001278596.1	tolerated(0.19)		16/27		Pfam_domain:PF04547																	MODERATE	1	SNV	5			1										PASS		rs373654644	.												C	3	2	39	5732551	5732551	A	C	1	0	0	0	0	1	0	0	0	804	131	5	5		5	ANO2	12	5732551	Missense_Mutation	SNP	A	C3N-00175_TP	1094436	5732551	127542758	922	11072											
SLC2A14	0	.	GRCh38	chr12	7821248	7821248	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgaagatagtattaacCacacccgcgctgatggtggc	13	8	11	9	2	0	3	0	2	0	1	0	3	0	3	2	2	1	2	2	2	5	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1056G>T	p.=	p.V352V	ENST00000539924	7/10	189	168	21	206	205	1	strelka-mutect	SLC2A14,synonymous_variant,p.=,ENST00000543909,NM_001286233.1;SLC2A14,synonymous_variant,p.=,ENST00000340749,NM_001286235.1;SLC2A14,synonymous_variant,p.=,ENST00000431042,NM_001286234.1;SLC2A14,synonymous_variant,p.=,ENST00000616981,;SLC2A14,synonymous_variant,p.=,ENST00000542546,;SLC2A14,synonymous_variant,p.=,ENST00000396589,NM_153449.3;SLC2A14,synonymous_variant,p.=,ENST00000539924,NM_001286237.1;SLC2A14,synonymous_variant,p.=,ENST00000535295,NM_001286236.1;SLC2A14,5_prime_UTR_variant,,ENST00000542505,;	A	ENST00000539924	Transcript	synonymous_variant	1077/1873	1056/1608	352/535	V	gtG/gtT		1		-1	SLC2A14	HGNC	HGNC:18301	protein_coding	YES	CCDS66302.1	ENSP00000445929	Q8TDB8		UPI0001915325	NM_001286237.1			7/10		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR23503,hmmpanther:PTHR23503:SF23,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	39	7821248	7821248	C	A	1	0	0	0	0	0	0	0	1	14813	581	21	2		2	SLC2A14	12	7821248	Silent	SNP	C	C3N-00175_TP	2088697	7821248	125454061	923	11073											
KRAS	0	.	GRCh38	chr12	25245350	25245350	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		C3N-00175_TP	C3N-00175_NB	C	C																c.35G>C	p.Gly12Ala	p.G12A	ENST00000256078	2/6	265	188	77	348	348	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Ala,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Ala,ENST00000556131,;KRAS,missense_variant,p.Gly12Ala,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Ala,ENST00000557334,;	G	ENST00000256078	Transcript	missense_variant	99/1119	35/570	12/189	G/A	gGt/gCt	rs121913529,CM087372,COSM1135366,COSM1140133,COSM1140134,COSM12657,COSM49168,COSM520,COSM521,COSM522	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.02)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,0,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1,1,1	1										PASS		rs121913529	.												G	3	3	39	25245350	25245350	C	G	1	0	0	0	0	1	0	0	0	8318	507	18	4		4	KRAS	12	25245350	Missense_Mutation	SNP	C	C3N-00175_TP	17424102	25245350	108029959	924	11074											
SMCO2	0	.	GRCh38	chr12	27501959	27501959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attttcatcatgtttgatgtCctcaccgtcactggactttt	7	18	6	10	1	4	1	4	1	0	0	5	2	5	2	2	1	0	1	2	1	0	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.870C>T	p.=	p.V290V	ENST00000416383	9/9	58	42	16	70	70	0	strelka-varscan-mutect	SMCO2,synonymous_variant,p.=,ENST00000416383,NM_001145010.1;SMCO2,synonymous_variant,p.=,ENST00000298876,;SMCO2,synonymous_variant,p.=,ENST00000535986,;SMCO2,non_coding_transcript_exon_variant,,ENST00000541168,;RARSP1,downstream_gene_variant,,ENST00000542842,;	T	ENST00000416383	Transcript	synonymous_variant	1046/1272	870/1032	290/343	V	gtC/gtT		1		1	SMCO2	HGNC	HGNC:34448	protein_coding	YES	CCDS44852.1	ENSP00000387617	A6NFE2		UPI000166275D	NM_001145010.1			9/9		Transmembrane_helices:TMhelix,hmmpanther:PTHR22422:SF5,hmmpanther:PTHR22422,Pfam_domain:PF14992																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	39	27501959	27501959	C	T	1	0	0	0	0	0	0	0	1	15083	842	30	3		3	SMCO2	12	27501959	Silent	SNP	C	C3N-00175_TP	2256609	27501959	105773350	925	11075											
OVCH1	0	.	GRCh38	chr12	29455406	29455406	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcccaccagagtctccCtgaaacaccaagaaaacatg	15	5	8	13	0	1	3	0	1	1	2	2	3	1	3	4	1	2	0	4	1	4	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2281-1G>T		p.X761_splice	ENST00000318184		88	79	9	76	76	0	strelka-varscan-mutect	OVCH1,splice_acceptor_variant,,ENST00000318184,NM_183378.2;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;OVCH1-AS1,intron_variant,,ENST00000550906,;	A	ENST00000318184	Transcript	splice_acceptor_variant	-/3405	2281/3405	761/1134				1		-1	OVCH1	HGNC	HGNC:23080	protein_coding	YES		ENSP00000326708	Q7RTY7		UPI000040640A	NM_183378.2				19/27																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	39	29455406	29455406	C	A	1	0	0	0	0	0	0	1	0	11393	695	24	2		2	OVCH1	12	29455406	Splice_Site	SNP	C	C3N-00175_TP	1953447	29455406	103819903	926	11076											
DNM1L	0	.	GRCh38	chr12	32733752	32733752	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattgaactggcttatatcaAcacaaaacatccagactttg	16	11	5	9	0	1	2	1	1	0	1	2	2	2	2	1	1	3	1	1	1	7	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1523A>G	p.Asn508Ser	p.N508S	ENST00000553257	14/21	217	185	32	309	309	0	strelka-varscan-mutect	DNM1L,missense_variant,p.Asn495Ser,ENST00000452533,NM_012063.3;DNM1L,missense_variant,p.Asn508Ser,ENST00000381000,NM_001278465.1;DNM1L,missense_variant,p.Asn292Ser,ENST00000414834,NM_001278466.1;DNM1L,missense_variant,p.Asn508Ser,ENST00000358214,;DNM1L,missense_variant,p.Asn495Ser,ENST00000266481,NM_005690.4;DNM1L,missense_variant,p.Asn508Ser,ENST00000553257,NM_001278464.1;DNM1L,missense_variant,p.Asn495Ser,ENST00000549701,NM_012062.4;DNM1L,missense_variant,p.Asn495Ser,ENST00000547312,NM_001278463.1;RP11-278C7.3,upstream_gene_variant,,ENST00000620472,;RP11-278C7.5,downstream_gene_variant,,ENST00000620106,;YARS2,intron_variant,,ENST00000551673,;DNM1L,3_prime_UTR_variant,,ENST00000546757,;DNM1L,3_prime_UTR_variant,,ENST00000546649,;DNM1L,3_prime_UTR_variant,,ENST00000547078,;DNM1L,non_coding_transcript_exon_variant,,ENST00000552743,;DNM1L,non_coding_transcript_exon_variant,,ENST00000550093,;DNM1L,non_coding_transcript_exon_variant,,ENST00000548151,;DNM1L,downstream_gene_variant,,ENST00000413295,;DNM1L,downstream_gene_variant,,ENST00000434676,;DNM1L,upstream_gene_variant,,ENST00000549157,;	G	ENST00000553257	Transcript	missense_variant	1600/2699	1523/2250	508/749	N/S	aAc/aGc		1		1	DNM1L	HGNC	HGNC:2973	protein_coding	YES	CCDS61095.1	ENSP00000449089	O00429		UPI00017A7CB6	NM_001278464.1	deleterious(0)		14/21		hmmpanther:PTHR11566:SF39,hmmpanther:PTHR11566,Pfam_domain:PF01031																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	39	32733752	32733752	A	G	1	0	0	0	0	1	0	0	0	4484	43	2	5		5	DNM1L	12	32733752	Missense_Mutation	SNP	A	C3N-00175_TP	3278346	32733752	100541557	927	11077											
PKP2	0	.	GRCh38	chr12	32877890	32877890	+	Frame_Shift_Del	DEL	C	C	-																															cttctctcagtgagcagattCccacttccccctgcggccgc																								rs749862514		C3N-00175_TP	C3N-00175_NB	C	C																c.990delG	p.Asn331IlefsTer21	p.N331Ifs*21	ENST00000070846	3/14	177	115	62	199	199	0	sindel-varindel-pindel	PKP2,frameshift_variant,p.Asn331IlefsTer21,ENST00000340811,NM_001005242.2;PKP2,frameshift_variant,p.Asn331IlefsTer21,ENST00000070846,NM_004572.3;	-	ENST00000070846	Transcript	frameshift_variant	1015/4241	990/2646	330/881	G/X	ggG/gg	rs749862514	1		-1	PKP2	HGNC	HGNC:9024	protein_coding	YES	CCDS8731.1	ENSP00000070846	Q99959		UPI000013C576	NM_004572.3			3/14		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF25																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	39	32877890	32877890	C	-	1	0	1	0	1	0	0	0	0	12081	842	30	0		0	PKP2	12	32877890	Frame_Shift_Del	DEL	C	C3N-00175_TP	144138	32877890	100397419	928	11078											
ABCD2	0	.	GRCh38	chr12	39607665	39607665	+	Silent	SNP	G	G	T																															gccagtaaatttcgagcagtGgtaaaggcttctgtccgttc																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1170C>A	p.=	p.T390T	ENST00000308666	3/10	230	164	66	241	239	2	strelka-varscan-mutect	ABCD2,synonymous_variant,p.=,ENST00000308666,NM_005164.3;	T	ENST00000308666	Transcript	synonymous_variant	1306/6238	1170/2223	390/740	T	acC/acA		1		-1	ABCD2	HGNC	HGNC:66	protein_coding	YES	CCDS8734.1	ENSP00000310688	Q9UBJ2		UPI000004C4C6	NM_005164.3			3/10		hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	39607665	39607665	G	T	1	0	0	0	0	0	0	0	1	65	1335	47	2		2	ABCD2	12	39607665	Silent	SNP	G	C3N-00175_TP	6729775	39607665	93667644	929	11079	252	2									
ABCD2	0	.	GRCh38	chr12	39607666	39607666	+	Missense_Mutation	SNP	G	G	T																															ccagtaaatttcgagcagtgGtaaaggcttctgtccgttca																										C3N-00175_TP	C3N-00175_NB	G	G																c.1169C>A	p.Thr390Asn	p.T390N	ENST00000308666	3/10	234	166	68	241	240	1	strelka-varscan-mutect	ABCD2,missense_variant,p.Thr390Asn,ENST00000308666,NM_005164.3;	T	ENST00000308666	Transcript	missense_variant	1305/6238	1169/2223	390/740	T/N	aCc/aAc	COSM2151855	1		-1	ABCD2	HGNC	HGNC:66	protein_coding	YES	CCDS8734.1	ENSP00000310688	Q9UBJ2		UPI000004C4C6	NM_005164.3	deleterious(0)		3/10		hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	39	39607666	39607666	G	T	1	0	0	0	0	1	0	0	0	65	1261	44	2		2	ABCD2	12	39607666	Missense_Mutation	SNP	G	C3N-00175_TP	1	39607666	93667643	930	11080	252	2									
ABCD2	0	.	GRCh38	chr12	39617089	39617089	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaactgttctatcatgatgTaccacaaacgtttggataaa	14	12	8	7	1	2	1	1	1	1	0	2	3	2	3	1	2	3	3	1	2	6	5	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1019A>T	p.Tyr340Phe	p.Y340F	ENST00000308666	2/10	138	122	16	158	158	0	strelka-varscan-mutect	ABCD2,missense_variant,p.Tyr340Phe,ENST00000308666,NM_005164.3;	A	ENST00000308666	Transcript	missense_variant	1155/6238	1019/2223	340/740	Y/F	tAc/tTc		1		-1	ABCD2	HGNC	HGNC:66	protein_coding	YES	CCDS8734.1	ENSP00000310688	Q9UBJ2		UPI000004C4C6	NM_005164.3	tolerated(0.13)		2/10		PROSITE_profiles:PS50929,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24,Pfam_domain:PF06472,Superfamily_domains:SSF90123																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	39617089	39617089	T	A	1	0	0	0	0	1	0	0	0	65	1638	57	4		4	ABCD2	12	39617089	Missense_Mutation	SNP	T	C3N-00175_TP	9423	39617089	93658220	931	11081											
ABCD2	0	.	GRCh38	chr12	39619520	39619520	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggatagagggttttcagAgcatatgccgcagccaccag	11	8	13	9	1	1	2	1	0	0	2	1	3	1	3	3	2	3	3	3	2	2	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.96T>A	p.=	p.A32A	ENST00000308666	1/10	291	252	39	272	271	1	strelka-varscan-mutect	ABCD2,synonymous_variant,p.=,ENST00000308666,NM_005164.3;	T	ENST00000308666	Transcript	synonymous_variant	232/6238	96/2223	32/740	A	gcT/gcA		1		-1	ABCD2	HGNC	HGNC:66	protein_coding	YES	CCDS8734.1	ENSP00000310688	Q9UBJ2		UPI000004C4C6	NM_005164.3			1/10		Low_complexity_(Seg):seg,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	39619520	39619520	A	T	1	0	0	0	0	0	0	0	1	65	291	11	4		4	ABCD2	12	39619520	Silent	SNP	A	C3N-00175_TP	2431	39619520	93655789	932	11082											
C12orf40	0	.	GRCh38	chr12	39721140	39721140	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgccatacagtgtgatctAatttcaaaatgtacatgtag	13	14	8	6	0	2	1	1	1	1	0	2	1	2	1	1	0	3	3	1	0	6	6	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1848A>C	p.=	p.L616L	ENST00000324616	13/13	284	254	30	343	343	0	strelka-varscan-mutect	C12orf40,synonymous_variant,p.=,ENST00000324616,NM_001031748.2;C12orf40,intron_variant,,ENST00000468200,;	C	ENST00000324616	Transcript	synonymous_variant	2002/2776	1848/1959	616/652	L	ctA/ctC		1		1	C12orf40	HGNC	HGNC:26846	protein_coding	YES	CCDS41770.1	ENSP00000317671	Q86WS4		UPI000069A925	NM_001031748.2			13/13		hmmpanther:PTHR35158:SF1,hmmpanther:PTHR35158,Pfam_domain:PF15089																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	39	39721140	39721140	A	C	1	0	0	0	0	0	0	0	1	1809	349	13	5		5	C12orf40	12	39721140	Silent	SNP	A	C3N-00175_TP	101620	39721140	93554169	933	11083											
PDZRN4	0	.	GRCh38	chr12	41563620	41563620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatgagtgtaagagaatcGtgctgcttgttgcaaggcca	11	10	13	7	2	0	2	0	1	0	1	1	4	0	2	1	1	3	5	1	1	3	3	rs751304304		C3N-00175_TP	C3N-00175_NB	G	G																c.1438G>T	p.Val480Leu	p.V480L	ENST00000402685	8/10	147	116	31	147	147	0	strelka-varscan-mutect	PDZRN4,missense_variant,p.Val220Leu,ENST00000298919,;PDZRN4,missense_variant,p.Val480Leu,ENST00000402685,NM_001164595.1;PDZRN4,missense_variant,p.Val222Leu,ENST00000539469,NM_013377.3;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;	T	ENST00000402685	Transcript	missense_variant	1446/3347	1438/3111	480/1036	V/L	Gtg/Ttg	rs751304304	1		1	PDZRN4	HGNC	HGNC:30552	protein_coding	YES	CCDS53777.1	ENSP00000384197	Q6ZMN7		UPI0000D621D0	NM_001164595.1	tolerated(0.3)		8/10		Gene3D:2.30.42.10,Pfam_domain:PF00595,hmmpanther:PTHR15545,hmmpanther:PTHR15545:SF6,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	2			1										PASS		rs751304304	.												T	3	4	39	41563620	41563620	G	T	1	0	0	0	0	1	0	0	0	11798	1145	40	1		1	PDZRN4	12	41563620	Missense_Mutation	SNP	G	C3N-00175_TP	1842480	41563620	91711689	934	11084											
YAF2	0	.	GRCh38	chr12	42235844	42235844	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgtcctgggccaactccCctgtgtactatattccttct	5	15	6	15	0	2	0	0	0	2	0	5	0	5	0	5	1	2	1	5	1	4	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.306G>T	p.Arg102Ser	p.R102S	ENST00000555248	3/3	360	320	40	424	424	0	strelka-varscan-mutect	YAF2,missense_variant,p.Arg102Ser,ENST00000555248,NM_001190980.1;YAF2,intron_variant,,ENST00000327791,NM_001190979.1;YAF2,intron_variant,,ENST00000534854,NM_005748.4;YAF2,intron_variant,,ENST00000380790,NM_001190977.1;YAF2,intron_variant,,ENST00000548917,;PPHLN1,upstream_gene_variant,,ENST00000549190,;YAF2,non_coding_transcript_exon_variant,,ENST00000541702,;YAF2,intron_variant,,ENST00000547622,;YAF2,intron_variant,,ENST00000547724,;YAF2,non_coding_transcript_exon_variant,,ENST00000546782,;YAF2,intron_variant,,ENST00000552109,;YAF2,intron_variant,,ENST00000547351,;YAF2,intron_variant,,ENST00000551268,;YAF2,intron_variant,,ENST00000546726,;YAF2,intron_variant,,ENST00000547254,;YAF2,intron_variant,,ENST00000552928,;YAF2,intron_variant,,ENST00000548661,;	A	ENST00000555248	Transcript	missense_variant	475/5095	306/354	102/117	R/S	agG/agT		1		-1	YAF2	HGNC	HGNC:17363	protein_coding		CCDS53780.1	ENSP00000451626	Q8IY57		UPI000022934E	NM_001190980.1	tolerated_low_confidence(0.16)		3/3																			MODERATE		SNV	2			1										PASS		rs1373017382	.												A	3	1	39	42235844	42235844	C	A	1	0	0	0	0	1	0	0	0	18025	622	22	2		2	YAF2	12	42235844	Missense_Mutation	SNP	C	C3N-00175_TP	672224	42235844	91039465	935	11085											
ZCRB1	0	.	GRCh38	chr12	42313158	42313158	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttgaggggactcctgaaCtgggtttccattttttttgt	6	18	11	6	0	0	2	0	2	0	0	2	3	2	3	2	3	1	2	2	3	1	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.563G>C	p.Ser188Thr	p.S188T	ENST00000266529	8/8	94	67	27	162	162	0	strelka-varscan-mutect	ZCRB1,missense_variant,p.Ser188Thr,ENST00000266529,NM_033114.3;ZCRB1,missense_variant,p.Ser147Thr,ENST00000552673,;PPHLN1,intron_variant,,ENST00000549190,;ZCRB1,downstream_gene_variant,,ENST00000552235,;	G	ENST00000266529	Transcript	missense_variant	747/1827	563/654	188/217	S/T	aGt/aCt		1		-1	ZCRB1	HGNC	HGNC:29620	protein_coding	YES	CCDS8740.1	ENSP00000266529	Q8TBF4	A0A024R106	UPI00000467ED	NM_033114.3	tolerated(0.36)		8/8		hmmpanther:PTHR23139																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	42313158	42313158	C	G	1	0	0	0	0	1	0	0	0	18171	565	20	4		4	ZCRB1	12	42313158	Missense_Mutation	SNP	C	C3N-00175_TP	77314	42313158	90962151	936	11086											
ZCRB1	0	.	GRCh38	chr12	42313183	42313183	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccattttttttgttcttCttcaattttggcttgctgtg	3	25	6	7	0	3	0	1	0	2	0	4	0	4	0	1	1	1	3	1	1	1	11	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.538G>T	p.Glu180Ter	p.E180*	ENST00000266529	8/8	75	61	14	114	114	0	strelka-mutect	ZCRB1,stop_gained,p.Glu180Ter,ENST00000266529,NM_033114.3;ZCRB1,stop_gained,p.Glu139Ter,ENST00000552673,;PPHLN1,intron_variant,,ENST00000549190,;ZCRB1,downstream_gene_variant,,ENST00000552235,;	A	ENST00000266529	Transcript	stop_gained	722/1827	538/654	180/217	E/*	Gaa/Taa		1		-1	ZCRB1	HGNC	HGNC:29620	protein_coding	YES	CCDS8740.1	ENSP00000266529	Q8TBF4	A0A024R106	UPI00000467ED	NM_033114.3			8/8		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23139																	HIGH	1	SNV	1			1										PASS		rs1288153232	.												A	4	1	39	42313183	42313183	C	A	1	0	0	0	0	0	1	0	0	18171	922	32	2		2	ZCRB1	12	42313183	Nonsense_Mutation	SNP	C	C3N-00175_TP	25	42313183	90962126	937	11087											
ADAMTS20	0	.	GRCh38	chr12	43551001	43551001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaggtccgagggccctgCgtcgctctcccaggccccgc	3	5	14	19	5	1	0	0	0	1	0	4	1	2	0	5	3	1	2	5	3	0	0	rs767895763		C3N-00175_TP	C3N-00175_NB	C	C																c.361G>T	p.Ala121Ser	p.A121S	ENST00000389420	2/39	128	111	17	178	178	0	strelka-varscan-mutect	ADAMTS20,missense_variant,p.Ala121Ser,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Ala121Ser,ENST00000395541,;ADAMTS20,missense_variant,p.Ala121Ser,ENST00000553158,;	A	ENST00000389420	Transcript	missense_variant	361/6076	361/5733	121/1910	A/S	Gca/Tca	rs767895763	1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3	tolerated(0.64)		2/39		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF01562																	MODERATE	1	SNV	1			1										PASS		rs767895763	.												A	3	1	39	43551001	43551001	C	A	1	0	0	0	0	1	0	0	0	310	768	27	1		1	ADAMTS20	12	43551001	Missense_Mutation	SNP	C	C3N-00175_TP	1237818	43551001	89724308	938	11088											
DHH	0	.	GRCh38	chr12	49089987	49089987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcaagggggcaaaagcgcGgtgcgcccactggtgactct	8	7	14	12	3	2	1	1	1	2	0	3	1	2	1	1	4	2	1	1	4	3	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1063C>A	p.Arg355Ser	p.R355S	ENST00000266991	3/3	158	113	45	188	188	0	strelka-varscan-mutect	DHH,missense_variant,p.Arg355Ser,ENST00000266991,NM_021044.2;RP11-386G11.8,upstream_gene_variant,,ENST00000553174,;RP11-386G11.8,upstream_gene_variant,,ENST00000548030,;	T	ENST00000266991	Transcript	missense_variant	1370/1936	1063/1191	355/396	R/S	Cgc/Agc		1		-1	DHH	HGNC	HGNC:2865	protein_coding	YES	CCDS8779.1	ENSP00000266991	O43323		UPI0000035884	NM_021044.2	deleterious(0.05)		3/3		hmmpanther:PTHR11889,hmmpanther:PTHR11889:SF56,PIRSF_domain:PIRSF009400,Pfam_domain:PF01079,Prints_domain:PR00632																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	49089987	49089987	G	T	1	0	0	0	0	1	0	0	0	4288	1116	39	1		1	DHH	12	49089987	Missense_Mutation	SNP	G	C3N-00175_TP	5538986	49089987	84185322	939	11089											
FAIM2	0	.	GRCh38	chr12	49887405	49887405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaatgtaaatacacccgctCccagtgctgcataaactgca	13	8	6	14	1	0	0	0	0	0	0	1	0	1	0	3	0	5	5	3	0	6	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.782G>T	p.Gly261Val	p.G261V	ENST00000320634	11/12	221	193	28	257	257	0	strelka-varscan-mutect	FAIM2,missense_variant,p.Gly261Val,ENST00000320634,NM_012306.3;FAIM2,missense_variant,p.Gly215Val,ENST00000550890,;FAIM2,missense_variant,p.Gly219Val,ENST00000552669,;FAIM2,intron_variant,,ENST00000552863,;FAIM2,downstream_gene_variant,,ENST00000550635,;FAIM2,downstream_gene_variant,,ENST00000547871,;FAIM2,3_prime_UTR_variant,,ENST00000550195,;	A	ENST00000320634	Transcript	missense_variant	877/4654	782/951	261/316	G/V	gGa/gTa		1		-1	FAIM2	HGNC	HGNC:17067	protein_coding	YES	CCDS8791.1	ENSP00000321951	Q9BWQ8		UPI0000072B0C	NM_012306.3	deleterious(0.02)		11/12		Pfam_domain:PF01027,hmmpanther:PTHR23291,hmmpanther:PTHR23291:SF18,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	49887405	49887405	C	A	1	0	0	0	0	1	0	0	0	5248	855	30	2		2	FAIM2	12	49887405	Missense_Mutation	SNP	C	C3N-00175_TP	797418	49887405	83387904	940	11090											
SLC4A8	0	.	GRCh38	chr12	51450991	51450991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggcaaaggagccagccaGggggaggaaggcctggaagc	11	1	20	9	1	0	0	0	0	0	0	0	4	0	4	3	8	3	1	3	8	3	0	rs763980383		C3N-00175_TP	C3N-00175_NB	G	G																c.246G>T	p.Gln82His	p.Q82H	ENST00000453097	3/25	60	37	23	60	60	0	strelka-varscan-mutect	SLC4A8,missense_variant,p.Gln82His,ENST00000453097,NM_001039960.2;SLC4A8,missense_variant,p.Gln29His,ENST00000358657,NM_001258401.2;SLC4A8,missense_variant,p.Gln29His,ENST00000514353,NM_001258403.1;SLC4A8,missense_variant,p.Gln29His,ENST00000535225,NM_001267615.1,NM_001258402.1;SLC4A8,non_coding_transcript_exon_variant,,ENST00000548352,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000551071,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000604314,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000319957,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000547697,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000552001,;	T	ENST00000453097	Transcript	missense_variant	463/11824	246/3282	82/1093	Q/H	caG/caT	rs763980383	1		1	SLC4A8	HGNC	HGNC:11034	protein_coding	YES	CCDS44890.1	ENSP00000405812	Q2Y0W8		UPI00005E6FB4	NM_001039960.2	tolerated(0.1)		3/25		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF37																	MODERATE	1	SNV	1			1										PASS		rs763980383	.												T	3	4	39	51450991	51450991	G	T	1	0	0	0	0	1	0	0	0	14936	991	35	2		2	SLC4A8	12	51450991	Missense_Mutation	SNP	G	C3N-00175_TP	1563586	51450991	81824318	941	11091											
KRT85	0	.	GRCh38	chr12	52362919	52362919	+	Nonsense_Mutation	SNP	C	C	A																															gcggttcagctcgttgatctCctccttggtgcggcgcaggg																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1012G>T	p.Glu338Ter	p.E338*	ENST00000257901	6/9	530	481	49	619	619	0	varscan-mutect	KRT85,stop_gained,p.Glu338Ter,ENST00000257901,NM_002283.3;KRT85,stop_gained,p.Glu126Ter,ENST00000544265,NM_001300810.1;KRT85,non_coding_transcript_exon_variant,,ENST00000552537,;	A	ENST00000257901	Transcript	stop_gained	1088/2447	1012/1524	338/507	E/*	Gag/Tag		1		-1	KRT85	HGNC	HGNC:6462	protein_coding	YES	CCDS8824.1	ENSP00000257901	P78386		UPI000006EB3B	NM_002283.3			6/9		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,Prints_domain:PR01276,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF113,SMART_domains:SM01391																	HIGH	1	SNV	1			1										PASS		rs982582853	.												A	4	1	39	52362919	52362919	C	A	1	0	0	0	0	0	1	0	0	8381	864	30	2		2	KRT85	12	52362919	Nonsense_Mutation	SNP	C	C3N-00175_TP	911928	52362919	80912390	942	11092	253	2									
KRT85	0	.	GRCh38	chr12	52362920	52362920	+	Missense_Mutation	SNP	C	C	A																															cggttcagctcgttgatctcCtccttggtgcggcgcagggt																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1011G>T	p.Glu337Asp	p.E337D	ENST00000257901	6/9	534	485	49	616	615	1	varscan-mutect	KRT85,missense_variant,p.Glu337Asp,ENST00000257901,NM_002283.3;KRT85,missense_variant,p.Glu125Asp,ENST00000544265,NM_001300810.1;KRT85,non_coding_transcript_exon_variant,,ENST00000552537,;	A	ENST00000257901	Transcript	missense_variant	1087/2447	1011/1524	337/507	E/D	gaG/gaT		1		-1	KRT85	HGNC	HGNC:6462	protein_coding	YES	CCDS8824.1	ENSP00000257901	P78386		UPI000006EB3B	NM_002283.3	tolerated(0.51)		6/9		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,Prints_domain:PR01276,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF113,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	52362920	52362920	C	A	1	0	0	0	0	1	0	0	0	8381	680	24	2		2	KRT85	12	52362920	Missense_Mutation	SNP	C	C3N-00175_TP	1	52362920	80912389	943	11093	253	2									
AMHR2	0	.	GRCh38	chr12	53430266	53430266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctacatcccatccacctGgcgctgctttgccacagtaa	8	10	6	17	1	0	0	0	0	0	0	3	0	3	0	5	1	3	3	5	1	2	3	rs201339353		C3N-00175_TP	C3N-00175_NB	G	G																c.1409G>T	p.Trp470Leu	p.W470L	ENST00000257863	10/11	406	365	41	418	418	0	strelka-varscan-mutect	AMHR2,missense_variant,p.Trp470Leu,ENST00000257863,NM_020547.2;AMHR2,missense_variant,p.Gly469Cys,ENST00000550311,NM_001164690.1;AMHR2,missense_variant,p.Trp167Leu,ENST00000550839,;AMHR2,intron_variant,,ENST00000379791,NM_001164691.1;AMHR2,non_coding_transcript_exon_variant,,ENST00000552233,;AMHR2,downstream_gene_variant,,ENST00000548303,;	T	ENST00000257863	Transcript	missense_variant	1489/1863	1409/1722	470/573	W/L	tGg/tTg	rs201339353	1		1	AMHR2	HGNC	HGNC:465	protein_coding	YES	CCDS8858.1	ENSP00000257863	Q16671		UPI0000125970	NM_020547.2	deleterious(0)		10/11		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF037392,PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF49,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs201339353	.												T	3	4	39	53430266	53430266	G	T	1	0	0	0	0	1	0	0	0	672	1357	47	2		2	AMHR2	12	53430266	Missense_Mutation	SNP	G	C3N-00175_TP	1067346	53430266	79845043	944	11094											
TESPA1	0	.	GRCh38	chr12	54962961	54962961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacttccaacacaacttggtCcaaactgttccttttggggg	9	12	8	12	0	0	0	0	0	0	0	3	0	3	0	3	3	3	1	3	3	3	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.937G>T	p.Asp313Tyr	p.D313Y	ENST00000449076	9/11	137	99	38	193	193	0	strelka-varscan-mutect	TESPA1,missense_variant,p.Asp175Tyr,ENST00000524622,NM_001261844.1,NM_014796.2;TESPA1,missense_variant,p.Asp313Tyr,ENST00000449076,NM_001136030.2;TESPA1,missense_variant,p.Asp175Tyr,ENST00000532804,;TESPA1,missense_variant,p.Asp313Tyr,ENST00000316577,NM_001098815.2;TESPA1,missense_variant,p.Asp175Tyr,ENST00000531122,;TESPA1,intron_variant,,ENST00000532757,;TESPA1,downstream_gene_variant,,ENST00000524668,;TESPA1,downstream_gene_variant,,ENST00000526532,;TESPA1,upstream_gene_variant,,ENST00000528240,;TESPA1,downstream_gene_variant,,ENST00000533446,;TESPA1,downstream_gene_variant,,ENST00000524959,;TESPA1,3_prime_UTR_variant,,ENST00000524923,;TESPA1,downstream_gene_variant,,ENST00000525978,;	A	ENST00000449076	Transcript	missense_variant	1070/2010	937/1566	313/521	D/Y	Gac/Tac		1		-1	TESPA1	HGNC	HGNC:29109	protein_coding	YES	CCDS44913.1	ENSP00000400892	A2RU30	A0A024RB73	UPI00001FC438	NM_001136030.2	deleterious(0.01)		9/11		hmmpanther:PTHR17469																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	54962961	54962961	C	A	1	0	0	0	0	1	0	0	0	16189	855	30	2		2	TESPA1	12	54962961	Missense_Mutation	SNP	C	C3N-00175_TP	1532695	54962961	78312348	945	11095											
OR6C65	0	.	GRCh38	chr12	55401111	55401111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacacacagtttctagagCttatggcatttttgctagca	11	13	8	9	0	1	2	0	0	1	2	1	2	1	2	0	1	3	5	0	1	3	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.583C>A	p.Leu195Ile	p.L195I	ENST00000379665	1/1	132	84	48	172	172	0	strelka-varscan-mutect	OR6C65,missense_variant,p.Leu195Ile,ENST00000379665,NM_001005518.1;OR6C73P,downstream_gene_variant,,ENST00000546432,;	A	ENST00000379665	Transcript	missense_variant	682/1076	583/939	195/312	L/I	Ctt/Att		1		1	OR6C65	HGNC	HGNC:31295	protein_coding	YES	CCDS31821.1	ENSP00000368986	A6NJZ3	A0A126GW71	UPI000044D410	NM_001005518.1	tolerated_low_confidence(0.12)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF15,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	55401111	55401111	C	A	1	0	0	0	0	1	0	0	0	11263	797	28	2		2	OR6C65	12	55401111	Missense_Mutation	SNP	C	C3N-00175_TP	438150	55401111	77874198	946	11096											
PAN2	0	.	GRCh38	chr12	56332883	56332883	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaaacaggtacacccactTcagccaccacgctgtgcaat	12	6	8	15	2	1	0	1	0	0	0	1	1	1	1	3	2	4	3	3	2	3	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.212A>C	p.Glu71Ala	p.E71A	ENST00000425394	2/26	193	171	22	198	198	0	strelka-varscan-mutect	PAN2,missense_variant,p.Glu71Ala,ENST00000425394,NM_001127460.2;PAN2,missense_variant,p.Glu71Ala,ENST00000610546,;PAN2,missense_variant,p.Glu71Ala,ENST00000548043,;PAN2,missense_variant,p.Glu71Ala,ENST00000440411,NM_014871.4;PAN2,missense_variant,p.Glu71Ala,ENST00000257931,NM_001166279.1;PAN2,intron_variant,,ENST00000547572,;IL23A,upstream_gene_variant,,ENST00000619177,;IL23A,upstream_gene_variant,,ENST00000622119,;PAN2,non_coding_transcript_exon_variant,,ENST00000551359,;PAN2,non_coding_transcript_exon_variant,,ENST00000547994,;PAN2,non_coding_transcript_exon_variant,,ENST00000549964,;PAN2,upstream_gene_variant,,ENST00000547518,;	G	ENST00000425394	Transcript	missense_variant	589/5372	212/3609	71/1202	E/A	gAa/gCa		1		-1	PAN2	HGNC	HGNC:20074	protein_coding	YES	CCDS44922.1	ENSP00000401721	Q504Q3		UPI0000577D0A	NM_001127460.2	deleterious(0.01)		2/26		HAMAP:MF_03182,hmmpanther:PTHR15728,hmmpanther:PTHR15728:SF0,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	56332883	56332883	T	G	1	0	0	0	0	1	0	0	0	11495	1783	62	5		5	PAN2	12	56332883	Missense_Mutation	SNP	T	C3N-00175_TP	931772	56332883	76942426	947	11097											
GLI1	0	.	GRCh38	chr12	57471341	57471341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaggcccctatacccaGccaccccctgattatcttcc	8	9	5	19	0	2	1	1	1	1	0	3	1	3	1	7	1	2	0	7	1	3	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2601G>T	p.Gln867His	p.Q867H	ENST00000228682	12/12	41	29	12	49	49	0	strelka-varscan-mutect	GLI1,missense_variant,p.Gln867His,ENST00000228682,NM_005269.2;GLI1,missense_variant,p.Gln826His,ENST00000546141,NM_001167609.1;GLI1,missense_variant,p.Gln739His,ENST00000543426,NM_001160045.1;GLI1,missense_variant,p.Gln826His,ENST00000528467,;ARHGAP9,downstream_gene_variant,,ENST00000393797,NM_001319850.1;ARHGAP9,downstream_gene_variant,,ENST00000550288,;ARHGAP9,downstream_gene_variant,,ENST00000393791,NM_032496.2;ARHGAP9,downstream_gene_variant,,ENST00000424809,NM_001080157.1;ARHGAP9,downstream_gene_variant,,ENST00000430041,NM_001080156.1;ARHGAP9,downstream_gene_variant,,ENST00000548139,;GLI1,downstream_gene_variant,,ENST00000532291,;ARHGAP9,downstream_gene_variant,,ENST00000550399,;ARHGAP9,downstream_gene_variant,,ENST00000550130,;ARHGAP9,downstream_gene_variant,,ENST00000550454,;MARS,upstream_gene_variant,,ENST00000549133,;ARHGAP9,downstream_gene_variant,,ENST00000547200,;ARHGAP9,downstream_gene_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000552953,;ARHGAP9,downstream_gene_variant,,ENST00000548148,;ARHGAP9,downstream_gene_variant,,ENST00000550440,;ARHGAP9,downstream_gene_variant,,ENST00000546704,;	T	ENST00000228682	Transcript	missense_variant	2692/3613	2601/3321	867/1106	Q/H	caG/caT		1		1	GLI1	HGNC	HGNC:4317	protein_coding	YES	CCDS8940.1	ENSP00000228682	P08151		UPI000012B607	NM_005269.2	tolerated(0.17)		12/12		hmmpanther:PTHR19818:SF2,hmmpanther:PTHR19818																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	57471341	57471341	G	T	1	0	0	0	0	1	0	0	0	6315	962	34	2		2	GLI1	12	57471341	Missense_Mutation	SNP	G	C3N-00175_TP	1138458	57471341	75803968	948	11098											
OS9	0	.	GRCh38	chr12	57695995	57695995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtgaagtcctctatctcgGctactaccaatcagccttcg	9	11	8	13	2	3	1	1	1	2	0	6	1	4	1	3	2	3	1	3	2	5	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.437G>T	p.Gly146Val	p.G146V	ENST00000315970	4/15	248	219	29	242	242	0	strelka-varscan-mutect	OS9,missense_variant,p.Gly146Val,ENST00000315970,NM_006812.3;OS9,missense_variant,p.Gly146Val,ENST00000257966,NM_001261420.1;OS9,missense_variant,p.Gly146Val,ENST00000389142,NM_001017957.2;OS9,missense_variant,p.Gly146Val,ENST00000551035,NM_001261421.1;OS9,missense_variant,p.Gly146Val,ENST00000552285,NM_001017956.2;OS9,missense_variant,p.Gly146Val,ENST00000389146,NM_001017958.2;OS9,missense_variant,p.Gly87Val,ENST00000439210,NM_001261423.1;OS9,intron_variant,,ENST00000435406,NM_001261422.1;OS9,intron_variant,,ENST00000413095,;OS9,intron_variant,,ENST00000547079,;OS9,intron_variant,,ENST00000550372,;RP11-571M6.7,intron_variant,,ENST00000549477,;OS9,3_prime_UTR_variant,,ENST00000552423,;OS9,3_prime_UTR_variant,,ENST00000551285,;OS9,3_prime_UTR_variant,,ENST00000550848,;OS9,non_coding_transcript_exon_variant,,ENST00000549307,;OS9,non_coding_transcript_exon_variant,,ENST00000553208,;OS9,non_coding_transcript_exon_variant,,ENST00000550793,;OS9,intron_variant,,ENST00000552787,;OS9,downstream_gene_variant,,ENST00000549897,;	T	ENST00000315970	Transcript	missense_variant	478/2691	437/2004	146/667	G/V	gGc/gTc		1		1	OS9	HGNC	HGNC:16994	protein_coding	YES	CCDS31843.1	ENSP00000318165	Q13438		UPI0000130EAC	NM_006812.3	deleterious(0)		4/15		Pfam_domain:PF07915,hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	57695995	57695995	G	T	1	0	0	0	0	1	0	0	0	11338	1203	42	2		2	OS9	12	57695995	Missense_Mutation	SNP	G	C3N-00175_TP	224654	57695995	75579314	949	11099											
HELB	0	.	GRCh38	chr12	66306489	66306489	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagagattttaggtacacAtccgtggaaacttggattta	14	12	10	5	1	0	2	0	0	0	2	1	5	1	4	1	3	2	1	1	3	5	6	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.752A>T	p.His251Leu	p.H251L	ENST00000247815	3/13	61	53	8	102	102	0	strelka-varscan-mutect	HELB,missense_variant,p.His251Leu,ENST00000247815,NM_033647.3;HELB,missense_variant,p.His251Leu,ENST00000545134,;HELB,missense_variant,p.His251Leu,ENST00000542394,;HELB,missense_variant,p.His251Leu,ENST00000440906,;	T	ENST00000247815	Transcript	missense_variant	811/12866	752/3264	251/1087	H/L	cAt/cTt		1		1	HELB	HGNC	HGNC:17196	protein_coding	YES	CCDS8976.1	ENSP00000247815	Q8NG08		UPI000013CC2D	NM_033647.3	deleterious(0.01)		3/13																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	66306489	66306489	A	T	1	0	0	0	0	1	0	0	0	6927	217	8	4		4	HELB	12	66306489	Missense_Mutation	SNP	A	C3N-00175_TP	8610494	66306489	66968820	950	11100											
DYRK2	0	.	GRCh38	chr12	67658479	67658479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcctgcagtgcgcatGaccccaggccaggctttgcg	6	8	14	13	2	0	1	0	1	0	0	1	2	1	2	4	3	3	3	4	3	0	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1572G>T	p.Met524Ile	p.M524I	ENST00000344096	3/3	44	37	7	52	52	0	strelka-varscan-mutect	DYRK2,missense_variant,p.Met524Ile,ENST00000344096,NM_006482.2;DYRK2,missense_variant,p.Met451Ile,ENST00000393555,NM_003583.3;DYRK2,downstream_gene_variant,,ENST00000543747,;DYRK2,downstream_gene_variant,,ENST00000319833,;DYRK2,downstream_gene_variant,,ENST00000542503,;RP11-335O4.3,downstream_gene_variant,,ENST00000425371,;	T	ENST00000344096	Transcript	missense_variant	1985/8912	1572/1806	524/601	M/I	atG/atT		1		1	DYRK2	HGNC	HGNC:3093	protein_coding	YES	CCDS8978.1	ENSP00000342105	Q92630		UPI000006E92B	NM_006482.2	tolerated(0.11)		3/3		PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF51,hmmpanther:PTHR24058,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	67658479	67658479	G	T	1	0	0	0	0	1	0	0	0	4680	1290	45	2		2	DYRK2	12	67658479	Missense_Mutation	SNP	G	C3N-00175_TP	1351990	67658479	65616830	951	11101											
TRHDE	0	.	GRCh38	chr12	72272824	72272824	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggcagcagggggctcTccgacccgtgggcagactca	6	5	17	13	2	2	1	1	0	1	1	3	2	2	1	2	5	1	5	2	5	0	0	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.46T>A	p.Ser16Thr	p.S16T	ENST00000261180	1/19	67	61	6	88	88	0	strelka-varscan-mutect	TRHDE,missense_variant,p.Ser16Thr,ENST00000261180,NM_013381.2;TRHDE,upstream_gene_variant,,ENST00000547300,;TRHDE-AS1,non_coding_transcript_exon_variant,,ENST00000426250,;TRHDE-AS1,upstream_gene_variant,,ENST00000435350,;TRHDE-AS1,upstream_gene_variant,,ENST00000550334,;TRHDE,intron_variant,,ENST00000548156,;TRHDE,upstream_gene_variant,,ENST00000552503,;	A	ENST00000261180	Transcript	missense_variant	142/10733	46/3075	16/1024	S/T	Tcc/Acc		1		1	TRHDE	HGNC	HGNC:30748	protein_coding	YES	CCDS9004.1	ENSP00000261180	Q9UKU6		UPI0000136D52	NM_013381.2	deleterious_low_confidence(0.03)		1/19																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	72272824	72272824	T	A	1	0	0	0	0	1	0	0	0	16968	1551	54	4		4	TRHDE	12	72272824	Missense_Mutation	SNP	T	C3N-00175_TP	4614345	72272824	61002485	952	11102											
TRHDE	0	.	GRCh38	chr12	72575512	72575512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctgtcagtaaccgagcggGcttgatcgatgatgccttca	8	12	11	10	3	3	2	2	2	1	0	4	4	3	2	2	1	3	2	2	1	1	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2156G>T	p.Gly719Val	p.G719V	ENST00000261180	12/19	272	196	76	300	299	1	strelka-varscan-mutect	TRHDE,missense_variant,p.Gly719Val,ENST00000261180,NM_013381.2;TRHDE,non_coding_transcript_exon_variant,,ENST00000549138,;TRHDE,non_coding_transcript_exon_variant,,ENST00000549401,;TRHDE,non_coding_transcript_exon_variant,,ENST00000549922,;	T	ENST00000261180	Transcript	missense_variant	2252/10733	2156/3075	719/1024	G/V	gGc/gTc		1		1	TRHDE	HGNC	HGNC:30748	protein_coding	YES	CCDS9004.1	ENSP00000261180	Q9UKU6		UPI0000136D52	NM_013381.2	deleterious(0.05)		12/19		Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40																	MODERATE	1	SNV	1			1										PASS		rs1032850885	.												T	3	4	39	72575512	72575512	G	T	1	0	0	0	0	1	0	0	0	16968	1203	42	2		2	TRHDE	12	72575512	Missense_Mutation	SNP	G	C3N-00175_TP	302688	72575512	60699797	953	11103											
TRHDE	0	.	GRCh38	chr12	72618980	72618980	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttggcatgctgccagccGagctctttatcctctagata	7	13	8	13	1	2	1	0	0	2	1	4	2	4	1	4	1	4	3	4	1	3	5	rs745307313		C3N-00175_TP	C3N-00175_NB	G	G																c.2276G>T	p.Arg759Leu	p.R759L	ENST00000261180	13/19	119	92	27	135	135	0	strelka-varscan-mutect	TRHDE,missense_variant,p.Arg759Leu,ENST00000261180,NM_013381.2;TRHDE,downstream_gene_variant,,ENST00000549138,;TRHDE,non_coding_transcript_exon_variant,,ENST00000549922,;	T	ENST00000261180	Transcript	missense_variant	2372/10733	2276/3075	759/1024	R/L	cGa/cTa	rs745307313,COSM1606622	1		1	TRHDE	HGNC	HGNC:30748	protein_coding	YES	CCDS9004.1	ENSP00000261180	Q9UKU6		UPI0000136D52	NM_013381.2	deleterious(0.01)		13/19		Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs745307313	.												T	3	4	39	72618980	72618980	G	T	1	0	0	0	0	1	0	0	0	16968	1058	37	1		1	TRHDE	12	72618980	Missense_Mutation	SNP	G	C3N-00175_TP	43468	72618980	60656329	954	11104											
GLIPR1L2	0	.	GRCh38	chr12	75422951	75422951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaggaatattttgtactcGatgtggcagacgtgacaaat	13	11	10	7	2	0	2	0	1	0	1	1	4	0	3	1	2	1	2	1	2	4	4	rs144813686		C3N-00175_TP	C3N-00175_NB	G	G																c.632G>A	p.Arg211Gln	p.R211Q	ENST00000550916	4/6	270	205	65	238	238	0	strelka-varscan-mutect	GLIPR1L2,missense_variant,p.Arg211Gln,ENST00000550916,NM_001270396.1;GLIPR1L2,missense_variant,p.Arg104Gln,ENST00000378692,;GLIPR1L2,missense_variant,p.Arg211Gln,ENST00000320460,NM_152436.2;GLIPR1L2,downstream_gene_variant,,ENST00000547164,;	A	ENST00000550916	Transcript	missense_variant	679/2609	632/1035	211/344	R/Q	cGa/cAa	rs144813686,COSM431849,COSM70910	1		1	GLIPR1L2	HGNC	HGNC:28592	protein_coding	YES	CCDS58258.1	ENSP00000448248	Q4G1C9		UPI00001408B2	NM_001270396.1	tolerated(0.9)		4/6		hmmpanther:PTHR10334:SF236,hmmpanther:PTHR10334,Gene3D:3.40.33.10											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs144813686	.												A	3	1	39	75422951	75422951	G	A	1	0	0	0	0	1	0	0	0	6321	1058	37	1		1	GLIPR1L2	12	75422951	Missense_Mutation	SNP	G	C3N-00175_TP	2803971	75422951	57852358	955	11105											
NAV3	0	.	GRCh38	chr12	78128862	78128862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaataccacttttctaaCttgggtaaaatattctaaaa	17	13	5	6	0	2	0	0	0	2	0	2	1	2	1	1	2	2	1	1	2	9	9	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.4437C>A	p.Asn1479Lys	p.N1479K	ENST00000397909	18/40	81	60	21	96	96	0	strelka-varscan-mutect	NAV3,missense_variant,p.Asn1479Lys,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Asn1479Lys,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Asn374Lys,ENST00000552895,;NAV3,missense_variant,p.Asn108Lys,ENST00000550788,;RP11-136F16.2,downstream_gene_variant,,ENST00000418757,;	A	ENST00000397909	Transcript	missense_variant	4610/9821	4437/7158	1479/2385	N/K	aaC/aaA		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	deleterious(0.01)		18/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	78128862	78128862	C	A	1	0	0	0	0	1	0	0	0	10194	579	20	2		2	NAV3	12	78128862	Missense_Mutation	SNP	C	C3N-00175_TP	2705911	78128862	55146447	956	11106											
NAV3	0	.	GRCh38	chr12	78148857	78148857	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcaaatccataaactgCggagagagctggttgcatca	13	9	10	9	1	2	1	2	0	0	1	3	3	3	2	1	2	5	4	1	2	3	3	rs770148138		C3N-00175_TP	C3N-00175_NB	C	C																c.4723C>A	p.=	p.R1575R	ENST00000397909	22/40	170	152	18	201	201	0	strelka-varscan-mutect	NAV3,synonymous_variant,p.=,ENST00000397909,NM_001024383.1;NAV3,synonymous_variant,p.=,ENST00000536525,NM_014903.5;NAV3,synonymous_variant,p.=,ENST00000552895,;NAV3,synonymous_variant,p.=,ENST00000550788,;	A	ENST00000397909	Transcript	synonymous_variant	4896/9821	4723/7158	1575/2385	R	Cgg/Agg	rs770148138,COSM1648995,COSM1992647,COSM431876,COSM5233412,COSM5272842,COSM550018	1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1			22/40		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784											0,1,1,1,1,1,1						LOW	1	SNV	1		0,1,1,1,1,1,1	1										PASS		rs770148138	.												A	2	1	39	78148857	78148857	C	A	1	0	0	0	0	0	0	0	1	10194	759	27	1		1	NAV3	12	78148857	Silent	SNP	C	C3N-00175_TP	19995	78148857	55126452	957	11107											
MYF6	0	.	GRCh38	chr12	80707987	80707987	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctgcaagagaaaatctGcccccactgaccggcgaaaa	15	4	9	13	2	1	3	0	1	1	2	1	5	1	3	4	1	2	1	4	1	5	0			C3N-00175_TP	C3N-00175_NB	G	G																c.268G>C	p.Ala90Pro	p.A90P	ENST00000228641	1/3	477	406	71	508	508	0	strelka-varscan-mutect	MYF6,missense_variant,p.Ala90Pro,ENST00000228641,NM_002469.2;	C	ENST00000228641	Transcript	missense_variant	490/1465	268/729	90/242	A/P	Gcc/Ccc	COSM313015	1		1	MYF6	HGNC	HGNC:7566	protein_coding	YES	CCDS9019.1	ENSP00000228641	P23409		UPI0000001050	NM_002469.2	deleterious(0.02)		1/3		hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF4,Pfam_domain:PF01586,Gene3D:4.10.280.10,SMART_domains:SM00520											1						MODERATE	1	SNV	1		1	1										PASS		rs768710318	.												C	3	2	39	80707987	80707987	G	C	1	0	0	0	0	1	0	0	0	10028	1319	46	4		4	MYF6	12	80707987	Missense_Mutation	SNP	G	C3N-00175_TP	2559130	80707987	52567322	958	11108											
PPFIA2	0	.	GRCh38	chr12	81754110	81754110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgatccctttcatctagcaTattcaccatcagctgctcaa	11	12	4	14	1	5	0	4	0	1	0	6	1	6	0	2	0	3	3	2	0	3	4	rs375272875		C3N-00175_TP	C3N-00175_NB	T	T																c.112A>G	p.Met38Val	p.M38V	ENST00000549396	3/33	413	286	127	403	403	0	strelka-varscan-mutect	PPFIA2,missense_variant,p.Met38Val,ENST00000550584,NM_001220473.2;PPFIA2,missense_variant,p.Met38Val,ENST00000549396,NM_003625.4;PPFIA2,missense_variant,p.Met38Val,ENST00000549325,NM_001220474.2;PPFIA2,missense_variant,p.Met38Val,ENST00000548586,NM_001220476.2;PPFIA2,missense_variant,p.Met38Val,ENST00000552948,NM_001220475.2;PPFIA2,missense_variant,p.Met38Val,ENST00000551442,;PPFIA2,missense_variant,p.Met38Val,ENST00000547623,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000550798,;	C	ENST00000549396	Transcript	missense_variant	273/5363	112/3774	38/1257	M/V	Atg/Gtg	rs375272875	1		-1	PPFIA2	HGNC	HGNC:9246	protein_coding	YES	CCDS55857.1	ENSP00000450337	O75334		UPI0000168655	NM_003625.4	tolerated(0.08)		3/33		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587																	MODERATE	1	SNV	1			1										PASS		rs375272875	.												C	3	2	39	81754110	81754110	T	C	1	0	0	0	0	1	0	0	0	12419	1406	49	5		5	PPFIA2	12	81754110	Missense_Mutation	SNP	T	C3N-00175_TP	1046123	81754110	51521199	959	11109											
LRRIQ1	0	.	GRCh38	chr12	85137925	85137925	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagaatgaagaatccgatGaagaatacagagaaatagat	21	8	9	3	1	0	7	0	2	0	5	1	9	1	7	1	0	1	0	1	0	9	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.4285G>T	p.Glu1429Ter	p.E1429*	ENST00000393217	19/27	29	17	12	84	84	0	strelka-mutect	LRRIQ1,stop_gained,p.Glu1429Ter,ENST00000393217,NM_001079910.1;	T	ENST00000393217	Transcript	stop_gained	4346/5394	4285/5169	1429/1722	E/*	Gaa/Taa		1		1	LRRIQ1	HGNC	HGNC:25708	protein_coding	YES	CCDS41816.1	ENSP00000376910	Q96JM4	A0A140VJN5	UPI0000ED4E82	NM_001079910.1			19/27																			HIGH	1	SNV	5			1										PASS		.	.												T	4	4	39	85137925	85137925	G	T	1	0	0	0	0	0	1	0	0	8935	1291	45	2		2	LRRIQ1	12	85137925	Nonsense_Mutation	SNP	G	C3N-00175_TP	3383815	85137925	48137384	960	11110											
MGAT4C	0	.	GRCh38	chr12	85979507	85979507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatctagggctccatgatGcaaaatatcattttgccgat	13	12	7	9	1	2	1	1	1	1	0	3	2	3	1	2	1	3	2	2	1	5	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1219C>A	p.His407Asn	p.H407N	ENST00000611864	4/4	209	153	56	262	261	1	strelka-varscan-mutect	MGAT4C,missense_variant,p.His407Asn,ENST00000611864,;MGAT4C,missense_variant,p.His407Asn,ENST00000620241,;MGAT4C,missense_variant,p.His407Asn,ENST00000621808,NM_013244.3;MGAT4C,missense_variant,p.His407Asn,ENST00000548651,;MGAT4C,missense_variant,p.His407Asn,ENST00000552808,;MGAT4C,downstream_gene_variant,,ENST00000547225,;MGAT4C,downstream_gene_variant,,ENST00000552435,;	T	ENST00000611864	Transcript	missense_variant	1275/25116	1219/1437	407/478	H/N	Cat/Aat		1		-1	MGAT4C	HGNC	HGNC:30871	protein_coding	YES	CCDS9030.1	ENSP00000481096	Q9UBM8		UPI00001B002C		tolerated(0.19)		4/4		hmmpanther:PTHR12062,hmmpanther:PTHR12062:SF14																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	85979507	85979507	G	T	1	0	0	0	0	1	0	0	0	9507	1319	46	2		2	MGAT4C	12	85979507	Missense_Mutation	SNP	G	C3N-00175_TP	841582	85979507	47295802	961	11111											
CEP290	0	.	GRCh38	chr12	88106739	88106739	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattgacaacaattcattcTtttgcttctcattttctttt	8	21	2	10	0	4	1	2	1	3	0	5	1	4	1	1	0	2	1	1	0	2	10	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.2753A>T	p.Lys918Met	p.K918M	ENST00000552810	25/54	65	46	19	215	215	0	strelka-varscan-mutect	CEP290,missense_variant,p.Lys918Met,ENST00000552810,NM_025114.3;CEP290,missense_variant,p.Lys920Met,ENST00000309041,;CEP290,missense_variant,p.Lys671Met,ENST00000604024,;CEP290,upstream_gene_variant,,ENST00000547691,;CEP290,downstream_gene_variant,,ENST00000397838,;CEP290,downstream_gene_variant,,ENST00000547926,;	A	ENST00000552810	Transcript	missense_variant	3097/7948	2753/7440	918/2479	K/M	aAg/aTg		1		-1	CEP290	HGNC	HGNC:29021	protein_coding	YES	CCDS55858.1	ENSP00000448012	O15078		UPI0000D60D15	NM_025114.3	deleterious(0)		25/54		hmmpanther:PTHR18879:SF20,hmmpanther:PTHR18879,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	88106739	88106739	T	A	1	0	0	0	0	1	0	0	0	2969	1609	56	4		4	CEP290	12	88106739	Missense_Mutation	SNP	T	C3N-00175_TP	2127232	88106739	45168570	962	11112											
CFAP54	0	.	GRCh38	chr12	96684721	96684721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggaagtcttctcatcttCgcagaaaagaaaaggtagat	14	11	9	7	1	3	3	1	0	3	3	5	4	3	4	0	2	0	2	0	2	6	4	rs375064372		C3N-00175_TP	C3N-00175_NB	C	C																c.5790C>T	p.=	p.F1930F	ENST00000524981	41/68	116	108	8	164	164	0	strelka-varscan-mutect	CFAP54,synonymous_variant,p.=,ENST00000524981,NM_001306084.1;CFAP54,synonymous_variant,p.=,ENST00000637336,;CFAP54,non_coding_transcript_exon_variant,,ENST00000342887,;	T	ENST00000524981	Transcript	synonymous_variant	5813/9766	5790/9291	1930/3096	F	ttC/ttT	rs375064372,COSM3466695	1		1	CFAP54	HGNC	HGNC:26456	protein_coding	YES	CCDS76588.1	ENSP00000431759	Q96N23		UPI0001F77A4D	NM_001306084.1			41/68		hmmpanther:PTHR33487,hmmpanther:PTHR33487:SF2,Gene3D:1.25.40.10											0,1						LOW	1	SNV	5		0,1	1										PASS		rs375064372	.												T	2	4	39	96684721	96684721	C	T	1	0	0	0	0	0	0	0	1	3025	883	31	1		1	CFAP54	12	96684721	Silent	SNP	C	C3N-00175_TP	8577982	96684721	36590588	963	11113											
CFAP54	0	.	GRCh38	chr12	96753742	96753742	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgaactgtttttcttttaGgacatacagtggccaagcaa	12	12	8	9	1	1	0	0	0	1	0	1	2	1	1	2	2	3	2	2	2	5	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.7685-1G>C		p.X2562_splice	ENST00000524981		94	82	12	96	96	0	strelka-varscan-mutect	CFAP54,splice_acceptor_variant,,ENST00000524981,NM_001306084.1;CFAP54,splice_acceptor_variant,,ENST00000637336,;CFAP54,splice_acceptor_variant,,ENST00000342887,;	C	ENST00000524981	Transcript	splice_acceptor_variant	-/9766	7685/9291	2562/3096				1		1	CFAP54	HGNC	HGNC:26456	protein_coding	YES	CCDS76588.1	ENSP00000431759	Q96N23		UPI0001F77A4D	NM_001306084.1				55/67																		HIGH	1	SNV	5			1										PASS		.	.												C	5	2	39	96753742	96753742	G	C	1	0	0	0	0	0	0	1	0	3025	1014	35	4		4	CFAP54	12	96753742	Splice_Site	SNP	G	C3N-00175_TP	69021	96753742	36521567	964	11114											
ANKS1B	0	.	GRCh38	chr12	98832044	98832044	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttaccctgagggtgatggaCcgagggggcttctgtggggg	5	9	19	8	1	1	2	0	2	1	0	1	4	1	3	2	6	1	1	2	6	1	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2871G>T	p.=	p.R957R	ENST00000547776	18/26	238	210	28	228	228	0	strelka-varscan-mutect	ANKS1B,synonymous_variant,p.=,ENST00000547776,NM_152788.4;ANKS1B,synonymous_variant,p.=,ENST00000550693,NM_001204069.1;ANKS1B,synonymous_variant,p.=,ENST00000549493,NM_181670.3;ANKS1B,synonymous_variant,p.=,ENST00000547010,;ANKS1B,synonymous_variant,p.=,ENST00000549558,NM_020140.3;ANKS1B,synonymous_variant,p.=,ENST00000550778,;ANKS1B,synonymous_variant,p.=,ENST00000547446,NM_001204067.1;ANKS1B,synonymous_variant,p.=,ENST00000546960,NM_001204068.1;ANKS1B,synonymous_variant,p.=,ENST00000546568,NM_001204070.1;ANKS1B,5_prime_UTR_variant,,ENST00000341752,NM_001204081.1;ANKS1B,5_prime_UTR_variant,,ENST00000333732,NM_001204079.1,NM_001204080.1,NM_001204065.1;ANKS1B,5_prime_UTR_variant,,ENST00000546364,;ANKS1B,5_prime_UTR_variant,,ENST00000549797,;ANKS1B,5_prime_UTR_variant,,ENST00000551560,;ANKS1B,5_prime_UTR_variant,,ENST00000552407,;ANKS1B,5_prime_UTR_variant,,ENST00000552748,;ANKS1B,5_prime_UTR_variant,,ENST00000551613,;ANKS1B,5_prime_UTR_variant,,ENST00000548447,;ANKS1B,intron_variant,,ENST00000549025,NM_001204066.1;ANKS1B,non_coding_transcript_exon_variant,,ENST00000551830,;ANKS1B,5_prime_UTR_variant,,ENST00000547362,;ANKS1B,non_coding_transcript_exon_variant,,ENST00000552245,;	A	ENST00000547776	Transcript	synonymous_variant	2871/3885	2871/3747	957/1248	R	cgG/cgT		1		-1	ANKS1B	HGNC	HGNC:24600	protein_coding	YES	CCDS55872.1	ENSP00000449629	Q7Z6G8		UPI00003FE521	NM_152788.4			18/26		hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	98832044	98832044	C	A	1	0	0	0	0	0	0	0	1	795	494	18	2		2	ANKS1B	12	98832044	Silent	SNP	C	C3N-00175_TP	2078302	98832044	34443265	965	11115											
UHRF1BP1L	0	.	GRCh38	chr12	100050290	100050290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcaatttccccattaacaCcagtaattttaaataccaca	15	13	2	11	0	1	0	1	0	0	0	2	0	2	0	4	0	2	1	4	0	6	6	rs761777651		C3N-00175_TP	C3N-00175_NB	C	C																c.3596G>C	p.Gly1199Ala	p.G1199A	ENST00000279907	17/21	109	94	15	91	91	0	strelka-varscan-mutect	UHRF1BP1L,missense_variant,p.Gly1199Ala,ENST00000279907,NM_015054.1;UHRF1BP1L,missense_variant,p.Gly849Ala,ENST00000545232,;UHRF1BP1L,upstream_gene_variant,,ENST00000548712,;UHRF1BP1L,non_coding_transcript_exon_variant,,ENST00000547504,;	G	ENST00000279907	Transcript	missense_variant	3809/5168	3596/4395	1199/1464	G/A	gGt/gCt	rs761777651	1		-1	UHRF1BP1L	HGNC	HGNC:29102	protein_coding	YES	CCDS31882.1	ENSP00000279907	A0JNW5		UPI0000160563	NM_015054.1	tolerated(0.19)		17/21		hmmpanther:PTHR22774,hmmpanther:PTHR22774:SF17																	MODERATE	1	SNV	1			1										PASS		rs761777651	.												G	3	3	39	100050290	100050290	C	G	1	0	0	0	0	1	0	0	0	17493	507	18	4		4	UHRF1BP1L	12	100050290	Missense_Mutation	SNP	C	C3N-00175_TP	1218246	100050290	33225019	966	11116											
UHRF1BP1L	0	.	GRCh38	chr12	100072807	100072807	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaacgacattgttccgctgTagagacctgaaaagataaat	16	9	9	7	2	0	4	0	1	0	3	1	6	1	4	2	0	1	3	2	0	6	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1414A>G	p.Thr472Ala	p.T472A	ENST00000279907	12/21	138	116	22	126	126	0	strelka-varscan-mutect	UHRF1BP1L,missense_variant,p.Thr472Ala,ENST00000279907,NM_015054.1;UHRF1BP1L,missense_variant,p.Thr122Ala,ENST00000545232,;UHRF1BP1L,missense_variant,p.Thr472Ala,ENST00000356828,NM_001006947.1;UHRF1BP1L,missense_variant,p.Thr122Ala,ENST00000551973,;UHRF1BP1L,missense_variant,p.Thr61Ala,ENST00000550544,;UHRF1BP1L,missense_variant,p.Thr61Ala,ENST00000548045,;	C	ENST00000279907	Transcript	missense_variant	1627/5168	1414/4395	472/1464	T/A	Aca/Gca		1		-1	UHRF1BP1L	HGNC	HGNC:29102	protein_coding	YES	CCDS31882.1	ENSP00000279907	A0JNW5		UPI0000160563	NM_015054.1	deleterious(0.04)		12/21		hmmpanther:PTHR22774,hmmpanther:PTHR22774:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	100072807	100072807	T	C	1	0	0	0	0	1	0	0	0	17493	1638	57	5		5	UHRF1BP1L	12	100072807	Missense_Mutation	SNP	T	C3N-00175_TP	22517	100072807	33202502	967	11117											
SLC17A8	0	.	GRCh38	chr12	100401815	100401815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttgccatgcccctggctGgggtgttggtgcagtacatt	4	13	15	9	0	0	0	0	0	0	0	0	0	0	0	3	5	4	5	3	5	1	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.715G>T	p.Gly239Trp	p.G239W	ENST00000323346	6/12	394	262	132	416	416	0	strelka-varscan-mutect	SLC17A8,missense_variant,p.Gly239Trp,ENST00000323346,NM_139319.2;SLC17A8,missense_variant,p.Gly239Trp,ENST00000392989,NM_001145288.1;SLC17A8,upstream_gene_variant,,ENST00000547922,;	T	ENST00000323346	Transcript	missense_variant	1028/3983	715/1770	239/589	G/W	Ggg/Tgg		1		1	SLC17A8	HGNC	HGNC:20151	protein_coding	YES	CCDS9077.1	ENSP00000316909	Q8NDX2		UPI0000073B9B	NM_139319.2	deleterious(0)		6/12		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF207,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	100401815	100401815	G	T	1	0	0	0	0	1	0	0	0	14688	1348	47	2		2	SLC17A8	12	100401815	Missense_Mutation	SNP	G	C3N-00175_TP	329008	100401815	32873494	968	11118											
UTP20	0	.	GRCh38	chr12	101363692	101363692	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcttatgaaatcctcggCaagtttgtaggaaaagatca	14	11	9	7	1	2	2	1	1	1	1	4	4	3	3	1	2	0	3	1	2	6	3	rs752695607		C3N-00175_TP	C3N-00175_NB	C	C																c.5907C>A	p.=	p.G1969G	ENST00000261637	45/62	126	116	10	133	133	0	strelka-varscan-mutect	UTP20,synonymous_variant,p.=,ENST00000261637,NM_014503.2;	A	ENST00000261637	Transcript	synonymous_variant	6081/9025	5907/8358	1969/2785	G	ggC/ggA	rs752695607	1		1	UTP20	HGNC	HGNC:17897	protein_coding	YES	CCDS9081.1	ENSP00000261637	O75691		UPI00001FB38B	NM_014503.2			45/62		hmmpanther:PTHR17695,hmmpanther:PTHR17695:SF11,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		rs752695607	.												A	2	1	39	101363692	101363692	C	A	1	0	0	0	0	0	0	0	1	17642	697	25	2		2	UTP20	12	101363692	Silent	SNP	C	C3N-00175_TP	961877	101363692	31911617	969	11119											
POLR3B	0	.	GRCh38	chr12	106433860	106433860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctatatttcttctgatggggGaaggctatgcaggtatatat	10	15	11	5	0	2	1	0	1	2	0	2	2	2	2	0	4	1	3	0	4	7	8	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1769G>T	p.Gly590Val	p.G590V	ENST00000228347	16/28	84	74	10	147	147	0	strelka-varscan-mutect	POLR3B,missense_variant,p.Gly590Val,ENST00000228347,NM_018082.5;POLR3B,missense_variant,p.Gly532Val,ENST00000539066,NM_001160708.1;	T	ENST00000228347	Transcript	missense_variant	1991/4273	1769/3402	590/1133	G/V	gGa/gTa		1		1	POLR3B	HGNC	HGNC:30348	protein_coding	YES	CCDS9105.1	ENSP00000228347	Q9NW08		UPI000000DB67	NM_018082.5	deleterious(0)		16/28		Pfam_domain:PF04566,hmmpanther:PTHR20856,hmmpanther:PTHR20856:SF8,Superfamily_domains:SSF64484																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	106433860	106433860	G	T	1	0	0	0	0	1	0	0	0	12340	1174	41	2		2	POLR3B	12	106433860	Missense_Mutation	SNP	G	C3N-00175_TP	5070168	106433860	26841449	970	11120											
RFX4	0	.	GRCh38	chr12	106750676	106750676	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacgggaagctataactaTgggagctatggcaaccagca	14	7	11	9	1	0	0	0	0	0	0	0	2	0	2	1	3	6	4	1	3	7	5	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1845T>C	p.=	p.Y615Y	ENST00000357881	17/18	70	66	4	81	81	0	varscan-mutect	RFX4,synonymous_variant,p.=,ENST00000392842,NM_213594.2;RFX4,synonymous_variant,p.=,ENST00000229387,NM_032491.5;RFX4,synonymous_variant,p.=,ENST00000357881,NM_001206691.1;RP11-144F15.1,intron_variant,,ENST00000551505,;RP11-144F15.1,intron_variant,,ENST00000549203,;	C	ENST00000357881	Transcript	synonymous_variant	1985/2565	1845/2235	615/744	Y	taT/taC		1		1	RFX4	HGNC	HGNC:9985	protein_coding	YES	CCDS55880.1	ENSP00000350552	Q33E94		UPI00001FB460	NM_001206691.1			17/18		Low_complexity_(Seg):seg,hmmpanther:PTHR12619:SF25,hmmpanther:PTHR12619																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	39	106750676	106750676	T	C	1	0	0	0	0	0	0	0	1	13439	1471	51	5		5	RFX4	12	106750676	Silent	SNP	T	C3N-00175_TP	316816	106750676	26524633	971	11121											
ASCL4	0	.	GRCh38	chr12	107775381	107775381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgggcgcgcagcggctgcGcacggggatggcagtacttg	6	6	19	10	5	0	0	0	0	0	0	0	1	0	1	0	5	3	5	0	5	1	2			C3N-00175_TP	C3N-00175_NB	G	G																c.166G>T	p.Ala56Ser	p.A56S	ENST00000342331	1/1	175	157	18	262	262	0	strelka-varscan-mutect	ASCL4,missense_variant,p.Ala56Ser,ENST00000342331,NM_203436.2;	T	ENST00000342331	Transcript	missense_variant	997/2260	166/522	56/173	A/S	Gca/Tca	COSM4645097	1		1	ASCL4	HGNC	HGNC:24311	protein_coding	YES	CCDS31894.2	ENSP00000345420	Q6XD76		UPI00001973FA	NM_203436.2	tolerated(0.49)		1/1		hmmpanther:PTHR13935,hmmpanther:PTHR13935:SF51											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	39	107775381	107775381	G	T	1	0	0	0	0	1	0	0	0	1178	1087	38	1		1	ASCL4	12	107775381	Missense_Mutation	SNP	G	C3N-00175_TP	1024705	107775381	25499928	972	11122											
CMKLR1	0	.	GRCh38	chr12	108291938	108291938	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggtaggaagagtggcctGtatcttcacttagagcattg	9	12	14	6	0	2	2	1	0	1	2	2	3	2	3	1	4	1	3	1	4	4	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1025C>G	p.Thr342Arg	p.T342R	ENST00000312143	3/3	246	169	77	241	241	0	strelka-varscan-mutect	CMKLR1,missense_variant,p.Thr342Arg,ENST00000312143,NM_001142344.1;CMKLR1,missense_variant,p.Thr342Arg,ENST00000412676,NM_001142345.1;CMKLR1,missense_variant,p.Thr342Arg,ENST00000550402,NM_001142343.1;CMKLR1,missense_variant,p.Thr340Arg,ENST00000552995,NM_004072.2;CMKLR1,downstream_gene_variant,,ENST00000550573,;CMKLR1,downstream_gene_variant,,ENST00000549466,;	C	ENST00000312143	Transcript	missense_variant	1389/5283	1025/1122	342/373	T/R	aCa/aGa		1		-1	CMKLR1	HGNC	HGNC:2121	protein_coding	YES	CCDS44965.1	ENSP00000311733	Q99788		UPI0000127BD4	NM_001142344.1	deleterious(0.01)		3/3		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF696,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01126																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	39	108291938	108291938	G	C	1	0	0	0	0	1	0	0	0	3354	1377	48	4		4	CMKLR1	12	108291938	Missense_Mutation	SNP	G	C3N-00175_TP	516557	108291938	24983371	973	11123											
CUX2	0	.	GRCh38	chr12	111310670	111310670	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgctcaggaccatccaaGtgcggcagcgaggtgagtgc	8	6	16	11	3	1	1	1	1	0	0	2	3	2	2	2	4	3	2	2	4	1	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1888G>C	p.Val630Leu	p.V630L	ENST00000261726	15/22	35	30	5	55	55	0	strelka-varscan-mutect	CUX2,missense_variant,p.Val630Leu,ENST00000261726,NM_015267.3;	C	ENST00000261726	Transcript	missense_variant	2042/6844	1888/4461	630/1486	V/L	Gtg/Ctg		1		1	CUX2	HGNC	HGNC:19347	protein_coding	YES	CCDS41837.1	ENSP00000261726	O14529		UPI00001FBB07	NM_015267.3	tolerated(0.47)		15/22		PROSITE_profiles:PS51042,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5,SMART_domains:SM01109																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	111310670	111310670	G	C	1	0	0	0	0	1	0	0	0	3875	1029	36	4		4	CUX2	12	111310670	Missense_Mutation	SNP	G	C3N-00175_TP	3018732	111310670	21964639	974	11124											
ALDH2	0	.	GRCh38	chr12	111790506	111790506	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaacgtggttgtgatgAaggtagctgagcagacaccc	11	8	14	8	1	0	4	0	3	0	1	0	5	0	5	1	3	3	4	1	3	3	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.625A>G	p.Lys209Glu	p.K209E	ENST00000261733	6/13	270	237	33	314	314	0	strelka-varscan-mutect	ALDH2,missense_variant,p.Lys209Glu,ENST00000261733,NM_000690.3;ALDH2,missense_variant,p.Lys162Glu,ENST00000416293,NM_001204889.1;RP11-162P23.2,missense_variant,p.Lys204Glu,ENST00000546840,;ALDH2,3_prime_UTR_variant,,ENST00000548536,;ALDH2,upstream_gene_variant,,ENST00000549106,;	G	ENST00000261733	Transcript	missense_variant	686/9569	625/1554	209/517	K/E	Aag/Gag		1		1	ALDH2	HGNC	HGNC:404	protein_coding	YES	CCDS9155.1	ENSP00000261733	P05091		UPI0000129293	NM_000690.3	deleterious(0)		6/13		Gene3D:3.40.605.10,Pfam_domain:PF00171,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF211,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	111790506	111790506	A	G	1	0	0	0	0	1	0	0	0	596	247	9	5		5	ALDH2	12	111790506	Missense_Mutation	SNP	A	C3N-00175_TP	479836	111790506	21484803	975	11125											
TBX5	0	.	GRCh38	chr12	114355702	114355702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgaccacaggctggtGggccacggaggtctggtgct	5	8	16	12	1	1	1	0	1	1	0	1	2	1	2	3	6	2	2	3	6	0	0			C3N-00175_TP	C3N-00175_NB	G	G																c.1387C>A	p.His463Asn	p.H463N	ENST00000310346	9/9	169	113	56	200	200	0	strelka-varscan-mutect	TBX5,missense_variant,p.His463Asn,ENST00000310346,NM_000192.3;TBX5,missense_variant,p.His413Asn,ENST00000349716,NM_080717.2;TBX5,missense_variant,p.His463Asn,ENST00000405440,NM_181486.2;	T	ENST00000310346	Transcript	missense_variant	2054/3825	1387/1557	463/518	H/N	Cac/Aac	COSM3456499	1		-1	TBX5	HGNC	HGNC:11604	protein_coding	YES	CCDS9173.1	ENSP00000309913	Q99593		UPI0000136AA2	NM_000192.3	tolerated_low_confidence(0.09)		9/9		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	39	114355702	114355702	G	T	1	0	0	0	0	1	0	0	0	16065	1348	47	2		2	TBX5	12	114355702	Missense_Mutation	SNP	G	C3N-00175_TP	2565196	114355702	18919607	976	11126											
MED13L	0	.	GRCh38	chr12	115991135	115991135	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacgcattaaagcattcCgtccagtaatcattattatc	13	13	4	11	2	1	0	1	0	0	0	5	0	4	0	3	0	2	3	3	0	6	5	rs542711978		C3N-00175_TP	C3N-00175_NB	C	C																c.3819G>T	p.=	p.T1273T	ENST00000281928	17/31	435	388	47	421	421	0	strelka-varscan-mutect	MED13L,synonymous_variant,p.=,ENST00000281928,NM_015335.4;	A	ENST00000281928	Transcript	synonymous_variant	4026/14234	3819/6633	1273/2210	T	acG/acT	rs542711978	1		-1	MED13L	HGNC	HGNC:22962	protein_coding	YES	CCDS9177.1	ENSP00000281928	Q71F56		UPI0000241C1E	NM_015335.4			17/31		hmmpanther:PTHR10791,hmmpanther:PTHR10791:SF64																	LOW	1	SNV	1			1										PASS		rs542711978	.												A	2	1	39	115991135	115991135	C	A	1	0	0	0	0	0	0	0	1	9370	639	23	1		1	MED13L	12	115991135	Silent	SNP	C	C3N-00175_TP	1635433	115991135	17284174	977	11127											
GCN1	0	.	GRCh38	chr12	120173655	120173655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggagttgtcttacccCggtaagaggccaacatgcac	9	8	11	13	1	1	1	0	0	1	1	1	2	1	2	4	3	3	3	4	3	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1364G>T	p.Arg455Leu	p.R455L	ENST00000300648	14/58	49	42	7	60	60	0	strelka-varscan-mutect	GCN1,missense_variant,p.Arg455Leu,ENST00000300648,NM_006836.1;GCN1,downstream_gene_variant,,ENST00000548821,;	A	ENST00000300648	Transcript	missense_variant,splice_region_variant	1377/8675	1364/8016	455/2671	R/L	cGg/cTg		1		-1	GCN1	HGNC	HGNC:4199	protein_coding	YES	CCDS41847.1	ENSP00000300648	Q92616		UPI0000451CA7	NM_006836.1	deleterious(0.04)		14/58		hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs909142137	.												A	3	1	39	120173655	120173655	C	A	1	0	0	0	0	1	0	0	0	6169	666	23	1		1	GCN1	12	120173655	Missense_Mutation	SNP	C	C3N-00175_TP	4182520	120173655	13101654	978	11128											
SETD1B	0	.	GRCh38	chr12	121814235	121814235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgtggcagccccttctGtgctagccccaaccctgccg	5	7	10	19	2	1	0	0	0	1	0	1	0	1	0	7	1	6	2	7	1	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2020G>T	p.Val674Leu	p.V674L	ENST00000542440	7/18	94	81	13	94	94	0	strelka-varscan-mutect	SETD1B,missense_variant,p.Val674Leu,ENST00000542440,NM_015048.1;SETD1B,missense_variant,p.Val674Leu,ENST00000604567,;SETD1B,missense_variant,p.Val674Leu,ENST00000619791,;SETD1B,missense_variant,p.Val674Leu,ENST00000267197,;	T	ENST00000542440	Transcript	missense_variant	2088/8185	2020/5772	674/1923	V/L	Gtg/Ttg		1		1	SETD1B	HGNC	HGNC:29187	protein_coding	YES	CCDS53838.1	ENSP00000442924	Q9UPS6		UPI00006C12ED	NM_015048.1	tolerated_low_confidence(0.19)		7/18		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF296,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	121814235	121814235	G	T	1	0	0	0	0	1	0	0	0	14408	1377	48	2		2	SETD1B	12	121814235	Missense_Mutation	SNP	G	C3N-00175_TP	1640580	121814235	11461074	979	11129											
CLIP1	0	.	GRCh38	chr12	122274063	122274063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataattgtttaggtcatcccCgttcccattcagggctgctt	7	15	8	11	1	2	0	2	0	0	0	4	0	4	0	3	2	1	4	3	2	2	7	rs201297279		C3N-00175_TP	C3N-00175_NB	C	C																c.4066G>T	p.Gly1356Trp	p.G1356W	ENST00000620786	25/26	119	108	11	122	121	1	strelka-varscan-mutect	CLIP1,missense_variant,p.Gly1356Trp,ENST00000620786,NM_001247997.1;CLIP1,missense_variant,p.Gly1345Trp,ENST00000358808,NM_002956.2;CLIP1,missense_variant,p.Gly1345Trp,ENST00000302528,;CLIP1,missense_variant,p.Gly1234Trp,ENST00000361654,;CLIP1,missense_variant,p.Gly1310Trp,ENST00000537178,NM_198240.1;CLIP1,missense_variant,p.Gly931Trp,ENST00000545889,;CLIP1,missense_variant,p.Gly1356Trp,ENST00000540338,;CLIP1,missense_variant,p.Gly35Trp,ENST00000540539,;CLIP1,non_coding_transcript_exon_variant,,ENST00000536634,;CLIP1,non_coding_transcript_exon_variant,,ENST00000538120,;CLIP1,non_coding_transcript_exon_variant,,ENST00000501271,;CLIP1,downstream_gene_variant,,ENST00000543205,;	A	ENST00000620786	Transcript	missense_variant	4221/5913	4066/4317	1356/1438	G/W	Ggg/Tgg	rs201297279	1		-1	CLIP1	HGNC	HGNC:10461	protein_coding	YES	CCDS58285.1	ENSP00000479322	P30622		UPI0000E00D4E	NM_001247997.1	deleterious(0)		25/26		Low_complexity_(Seg):seg,hmmpanther:PTHR18916:SF44,hmmpanther:PTHR18916																	MODERATE	1	SNV	5			1										PASS		rs201297279	.												A	3	1	39	122274063	122274063	C	A	1	0	0	0	0	1	0	0	0	3301	652	23	1		1	CLIP1	12	122274063	Missense_Mutation	SNP	C	C3N-00175_TP	459828	122274063	11001246	980	11130											
PITPNM2	0	.	GRCh38	chr12	122986102	122986102	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagccggccgccacactCatgctgcgctggccccgctg	5	5	12	19	4	1	0	1	0	0	0	1	0	1	0	5	2	4	4	5	2	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3975G>C	p.Met1325Ile	p.M1325I	ENST00000320201	25/25	52	42	10	72	72	0	strelka-mutect	PITPNM2,missense_variant,p.Met1319Ile,ENST00000280562,NM_001300801.1;PITPNM2,missense_variant,p.Met1325Ile,ENST00000320201,NM_020845.2;PITPNM2,missense_variant,p.Met1325Ile,ENST00000542749,;ABCB9,upstream_gene_variant,,ENST00000542678,;ARL6IP4,downstream_gene_variant,,ENST00000315580,NM_018694.3;ARL6IP4,downstream_gene_variant,,ENST00000543566,NM_001278379.1,NM_016638.3;ARL6IP4,downstream_gene_variant,,ENST00000453766,NM_001278378.1,NM_001002251.2;ARL6IP4,downstream_gene_variant,,ENST00000392435,NM_001002252.2;ARL6IP4,downstream_gene_variant,,ENST00000454885,NM_001278380.1;ARL6IP4,downstream_gene_variant,,ENST00000542099,;ARL6IP4,downstream_gene_variant,,ENST00000426960,;ARL6IP4,downstream_gene_variant,,ENST00000412505,;ARL6IP4,downstream_gene_variant,,ENST00000413381,;ARL6IP4,downstream_gene_variant,,ENST00000439686,;ARL6IP4,downstream_gene_variant,,ENST00000456762,;ARL6IP4,downstream_gene_variant,,ENST00000357866,;RP11-197N18.2,downstream_gene_variant,,ENST00000540866,;ARL6IP4,downstream_gene_variant,,ENST00000540708,;ARL6IP4,downstream_gene_variant,,ENST00000539576,;ARL6IP4,downstream_gene_variant,,ENST00000540382,;ARL6IP4,downstream_gene_variant,,ENST00000392433,;ARL6IP4,downstream_gene_variant,,ENST00000539770,;ARL6IP4,downstream_gene_variant,,ENST00000536502,;ARL6IP4,downstream_gene_variant,,ENST00000442210,;ARL6IP4,downstream_gene_variant,,ENST00000536073,;	G	ENST00000320201	Transcript	missense_variant	4114/6736	3975/4050	1325/1349	M/I	atG/atC		1		-1	PITPNM2	HGNC	HGNC:21044	protein_coding	YES	CCDS9242.1	ENSP00000322218	Q9BZ72		UPI0000070D27	NM_020845.2	deleterious_low_confidence(0.02)		25/25																			MODERATE		SNV	5			1										PASS		rs977855119	.												G	3	3	39	122986102	122986102	C	G	1	0	0	0	0	1	0	0	0	12047	826	29	4		4	PITPNM2	12	122986102	Missense_Mutation	SNP	C	C3N-00175_TP	712039	122986102	10289207	981	11131											
DNAH10	0	.	GRCh38	chr12	123871459	123871459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctaatgtctactttagttCacacagtggataccactcgg	10	13	7	11	1	2	0	1	0	1	0	4	1	3	1	2	2	2	1	2	2	4	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.7288C>T	p.His2430Tyr	p.H2430Y	ENST00000638045	44/78	90	69	21	114	114	0	strelka-varscan-mutect	DNAH10,missense_variant,p.His2491Tyr,ENST00000409039,;DNAH10,missense_variant,p.His2430Tyr,ENST00000638045,NM_207437.3;DNAH10,intron_variant,,ENST00000497783,;	T	ENST00000638045	Transcript	missense_variant,splice_region_variant	7313/13678	7288/13416	2430/4471	H/Y	Cac/Tac		1		1	DNAH10	HGNC	HGNC:2941	protein_coding	YES	CCDS9255.2	ENSP00000489675			UPI00014F7B89	NM_207437.3	deleterious(0)		44/78		hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF12775																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	39	123871459	123871459	C	T	1	0	0	0	0	1	0	0	0	4411	840	29	3		3	DNAH10	12	123871459	Missense_Mutation	SNP	C	C3N-00175_TP	885357	123871459	9403850	982	11132											
TMEM132D	0	.	GRCh38	chr12	129073978	129073978	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatcctcgctactcatcAcgatggagttcctggtgggg	6	12	12	11	2	3	0	3	0	0	0	6	2	5	1	2	4	1	2	2	4	1	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.3197T>A	p.Val1066Glu	p.V1066E	ENST00000422113	9/9	70	47	23	81	81	0	strelka-varscan-mutect	TMEM132D,missense_variant,p.Val1066Glu,ENST00000422113,NM_133448.2;TMEM132D,missense_variant,p.Val604Glu,ENST00000389441,;	T	ENST00000422113	Transcript	missense_variant	3524/5776	3197/3300	1066/1099	V/E	gTg/gAg		1		-1	TMEM132D	HGNC	HGNC:29411	protein_coding	YES	CCDS9266.1	ENSP00000408581	Q14C87		UPI000023759C	NM_133448.2	deleterious(0.01)		9/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	129073978	129073978	A	T	1	0	0	0	0	1	0	0	0	16492	159	6	4		4	TMEM132D	12	129073978	Missense_Mutation	SNP	A	C3N-00175_TP	5202519	129073978	4201331	983	11133											
TUBA3C	0	.	GRCh38	chr13	19177061	19177061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccatgtacttgccgtggcGagggtcacacttgaccatct	7	10	12	12	2	2	1	1	1	1	0	2	2	2	1	3	3	2	1	3	3	1	3	rs780474312		C3N-00175_TP	C3N-00175_NB	G	G																c.922C>T	p.Arg308Cys	p.R308C	ENST00000400113	4/5	272	240	32	373	372	1	strelka-varscan-mutect	TUBA3C,missense_variant,p.Arg308Cys,ENST00000400113,NM_006001.2;TUBA3C,missense_variant,p.Arg308Cys,ENST00000618094,;RP11-408E5.8,downstream_gene_variant,,ENST00000612362,;	A	ENST00000400113	Transcript	missense_variant	1027/1551	922/1353	308/450	R/C	Cgc/Tgc	rs780474312	1		-1	TUBA3C	HGNC	HGNC:12408	protein_coding	YES	CCDS9284.1	ENSP00000382982	Q13748	Q1ZYQ1	UPI0000027DB1	NM_006001.2	deleterious_low_confidence(0)		4/5		hmmpanther:PTHR11588:SF94,hmmpanther:PTHR11588,Gene3D:3.30.1330.20,Pfam_domain:PF03953,SMART_domains:SM00865,Superfamily_domains:SSF55307																	MODERATE	1	SNV	5			1										PASS		rs780474312	.												A	3	1	39	19177061	19177061	G	A	1	0	0	0	0	1	0	0	0	17256	1058	37	1		1	TUBA3C	13	19177061	Missense_Mutation	SNP	G	C3N-00175_TP		19177061	95187267	984	11134											
TUBA3C	0	.	GRCh38	chr13	19177540	19177540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatgagcagagatgcgaacCcagagccagtgccaccccca	12	3	10	16	1	0	3	0	1	0	2	0	5	0	3	6	0	5	1	6	0	1	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.443G>T	p.Gly148Val	p.G148V	ENST00000400113	4/5	57	33	24	67	67	0	strelka-varscan-mutect	TUBA3C,missense_variant,p.Gly148Val,ENST00000400113,NM_006001.2;TUBA3C,missense_variant,p.Gly148Val,ENST00000618094,;RP11-408E5.8,downstream_gene_variant,,ENST00000612362,;	A	ENST00000400113	Transcript	missense_variant	548/1551	443/1353	148/450	G/V	gGg/gTg		1		-1	TUBA3C	HGNC	HGNC:12408	protein_coding	YES	CCDS9284.1	ENSP00000382982	Q13748	Q1ZYQ1	UPI0000027DB1	NM_006001.2	deleterious_low_confidence(0)		4/5		Low_complexity_(Seg):seg,hmmpanther:PTHR11588:SF94,hmmpanther:PTHR11588,PROSITE_patterns:PS00227,Gene3D:3.40.50.1440,Pfam_domain:PF00091,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01162,Prints_domain:PR01161																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	19177540	19177540	C	A	1	0	0	0	0	1	0	0	0	17256	623	22	2		2	TUBA3C	13	19177540	Missense_Mutation	SNP	C	C3N-00175_TP	479	19177540	95186788	985	11135											
RNF17	0	.	GRCh38	chr13	24789348	24789348	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttttttttaaattctagAttatccggactttgcagtta	10	21	5	5	1	1	1	0	0	1	1	2	2	2	2	1	1	1	2	1	1	5	10			C3N-00175_TP	C3N-00175_NB	A	A																c.784A>T	p.Ile262Phe	p.I262F	ENST00000255324	8/36	75	58	17	118	118	0	strelka-varscan-mutect	RNF17,missense_variant,p.Ile262Phe,ENST00000255324,NM_031277.2,NM_001184993.1;RNF17,missense_variant,p.Ile262Phe,ENST00000255325,;RNF17,splice_region_variant,,ENST00000255326,;	T	ENST00000255324	Transcript	missense_variant,splice_region_variant	836/5119	784/4872	262/1623	I/F	Att/Ttt	COSM946194,COSM946195	1		1	RNF17	HGNC	HGNC:10060	protein_coding	YES	CCDS9308.2	ENSP00000255324	Q9BXT8		UPI00001FC8BA	NM_031277.2,NM_001184993.1	deleterious(0)		8/36		hmmpanther:PTHR16442											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												T	3	4	39	24789348	24789348	A	T	1	0	0	0	0	1	0	0	0	13638	347	12	4		4	RNF17	13	24789348	Missense_Mutation	SNP	A	C3N-00175_TP	5611808	24789348	89574980	986	11136											
RNF17	0	.	GRCh38	chr13	24859076	24859076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttggagccttatttctGgaaaaaaggagaagcatgtg	12	13	11	5	0	2	1	0	0	2	1	2	4	2	3	1	3	2	1	1	3	5	4			C3N-00175_TP	C3N-00175_NB	G	G																c.3686G>T	p.Trp1229Leu	p.W1229L	ENST00000255324	26/36	93	85	8	131	131	0	strelka-varscan-mutect	RNF17,missense_variant,p.Trp1229Leu,ENST00000255324,NM_031277.2,NM_001184993.1;RNF17,missense_variant,p.Trp553Leu,ENST00000418120,;RNF17,missense_variant,p.Trp281Leu,ENST00000339524,;	T	ENST00000255324	Transcript	missense_variant	3738/5119	3686/4872	1229/1623	W/L	tGg/tTg	COSM3467921	1		1	RNF17	HGNC	HGNC:10060	protein_coding	YES	CCDS9308.2	ENSP00000255324	Q9BXT8		UPI00001FC8BA	NM_031277.2,NM_001184993.1	deleterious(0)		26/36		PROSITE_profiles:PS50304,hmmpanther:PTHR16442,Pfam_domain:PF00567,Gene3D:2.30.30.140,SMART_domains:SM00333,Superfamily_domains:SSF63748											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	39	24859076	24859076	G	T	1	0	0	0	0	1	0	0	0	13638	1357	47	2		2	RNF17	13	24859076	Missense_Mutation	SNP	G	C3N-00175_TP	69728	24859076	89505252	987	11137											
ATP8A2	0	.	GRCh38	chr13	25578880	25578880	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaacattatgccatctGgaatactttgccacggaagg	13	9	11	8	1	1	0	0	0	1	0	1	4	1	3	2	4	4	0	2	4	5	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1848G>T	p.=	p.L616L	ENST00000381655	21/37	150	136	14	257	255	2	strelka-varscan-mutect	ATP8A2,synonymous_variant,p.=,ENST00000381655,NM_016529.4;ATP8A2,intron_variant,,ENST00000255283,;ATP8A2,non_coding_transcript_exon_variant,,ENST00000491840,;ATP8A2,synonymous_variant,p.=,ENST00000281620,;	T	ENST00000381655	Transcript	synonymous_variant	1990/9575	1848/3567	616/1188	L	ctG/ctT		1		1	ATP8A2	HGNC	HGNC:13533	protein_coding	YES	CCDS41873.1	ENSP00000371070	Q9NTI2		UPI0000229592	NM_016529.4			21/37		hmmpanther:PTHR24092:SF66,hmmpanther:PTHR24092,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01652,Superfamily_domains:SSF81660																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	39	25578880	25578880	G	T	1	0	0	0	0	0	0	0	1	1346	1335	47	2		2	ATP8A2	13	25578880	Silent	SNP	G	C3N-00175_TP	719804	25578880	88785448	988	11138											
FLT3	0	.	GRCh38	chr13	28027089	28027089	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgacccagcctcttaccTggaatttggatgtgattgga	8	12	10	11	0	1	2	0	2	1	0	1	5	1	5	4	3	2	0	4	3	2	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.2206A>C	p.Ser736Arg	p.S736R	ENST00000241453	17/24	62	46	16	75	75	0	strelka-varscan-mutect	FLT3,missense_variant,p.Ser736Arg,ENST00000241453,NM_004119.2;FLT3,missense_variant,p.Ser736Arg,ENST00000380987,;	G	ENST00000241453	Transcript	missense_variant,splice_region_variant	2288/3842	2206/2982	736/993	S/R	Agc/Cgc		1		-1	FLT3	HGNC	HGNC:3765	protein_coding	YES	CCDS31953.1	ENSP00000241453	P36888		UPI00001FC90B	NM_004119.2	tolerated(0.86)		17/24		PROSITE_profiles:PS50011,Pfam_domain:PF07714,SMART_domains:SM00219																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	28027089	28027089	T	G	1	0	0	0	0	1	0	0	0	5798	1594	55	5		5	FLT3	13	28027089	Missense_Mutation	SNP	T	C3N-00175_TP	2448209	28027089	86337239	989	11139											
FRY	0	.	GRCh38	chr13	32244086	32244086	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagcagcccctgctccaGgtgatctacagtcttctcag	7	10	10	14	0	3	1	1	1	3	0	5	1	4	1	3	1	5	3	3	1	1	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.6732G>C	p.Gln2244His	p.Q2244H	ENST00000542859	47/61	241	207	34	309	309	0	strelka-varscan-mutect	FRY,missense_variant,p.Gln2244His,ENST00000542859,NM_023037.2;FRY,missense_variant,p.Gln2243His,ENST00000380250,;	C	ENST00000542859	Transcript	missense_variant	7228/13200	6732/9042	2244/3013	Q/H	caG/caC		1		1	FRY	HGNC	HGNC:20367	protein_coding	YES	CCDS41875.1	ENSP00000445043	Q5TBA9		UPI000046FD40	NM_023037.2	deleterious(0.02)		47/61		Pfam_domain:PF14225,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29																	MODERATE	1	SNV	5			1										PASS		rs1301046018	.												C	3	2	39	32244086	32244086	G	C	1	0	0	0	0	1	0	0	0	5935	991	35	4		4	FRY	13	32244086	Missense_Mutation	SNP	G	C3N-00175_TP	4216997	32244086	82120242	990	11140											
BRCA2	0	.	GRCh38	chr13	32326564	32326564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggatcctgatatgtcttgGtcaagttctttagctacacc	8	15	9	9	0	3	1	1	1	2	0	4	2	4	2	2	2	2	2	2	2	4	6	rs80358810		C3N-00175_TP	C3N-00175_NB	G	G																c.582G>T	p.Trp194Cys	p.W194C	ENST00000380152	7/27	150	131	19	186	186	0	strelka-varscan-mutect	BRCA2,missense_variant,p.Trp194Cys,ENST00000380152,;BRCA2,missense_variant,p.Trp194Cys,ENST00000544455,NM_000059.3;BRCA2,non_coding_transcript_exon_variant,,ENST00000614259,;BRCA2,non_coding_transcript_exon_variant,,ENST00000530893,;	T	ENST00000380152	Transcript	missense_variant	815/11986	582/10257	194/3418	W/C	tgG/tgT	rs80358810	1		1	BRCA2	HGNC	HGNC:1101	protein_coding	YES	CCDS9344.1	ENSP00000369497	P51587		UPI00001FCBCC		deleterious(0)		7/27		Low_complexity_(Seg):seg,hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,PIRSF_domain:PIRSF002397										not_provided,pathogenic							MODERATE	1	SNV	5		1	1										PASS		rs80358810	.												T	3	4	39	32326564	32326564	G	T	1	0	0	0	0	1	0	0	0	1669	1270	44	2		2	BRCA2	13	32326564	Missense_Mutation	SNP	G	C3N-00175_TP	82478	32326564	82037764	991	11141											
NBEA	0	.	GRCh38	chr13	34942933	34942933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcggtggtggcggcaccgGgggcagcgggatgggggagc	5	3	24	9	4	0	0	0	0	0	0	0	2	0	2	1	9	3	2	1	9	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.113G>T	p.Gly38Val	p.G38V	ENST00000400445	1/58	44	40	4	52	52	0	strelka-varscan-mutect	NBEA,missense_variant,p.Gly38Val,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Gly38Val,ENST00000310336,;NBEA,missense_variant,p.Gly38Val,ENST00000629018,;NBEA,missense_variant,p.Gly38Val,ENST00000379939,;	T	ENST00000400445	Transcript	missense_variant	647/11119	113/8841	38/2946	G/V	gGg/gTg		1		1	NBEA	HGNC	HGNC:7648	protein_coding	YES	CCDS45026.1	ENSP00000383295	Q8NFP9		UPI00004FF92F	NM_015678.4	tolerated_low_confidence(0.1)		1/58		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	34942933	34942933	G	T	1	0	0	0	0	1	0	0	0	10198	1232	43	2		2	NBEA	13	34942933	Missense_Mutation	SNP	G	C3N-00175_TP	2616369	34942933	79421395	992	11142											
DCLK1	0	.	GRCh38	chr13	35839146	35839146	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagactttggtggacgcaaGtgacgtagaggagccgccat	10	7	15	9	3	0	3	0	1	0	2	0	5	0	5	2	3	1	3	2	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1066C>G	p.Leu356Val	p.L356V	ENST00000255448	7/18	134	121	13	207	207	0	strelka-varscan-mutect	DCLK1,missense_variant,p.Leu356Val,ENST00000360631,;DCLK1,missense_variant,p.Leu49Val,ENST00000615680,NM_001195415.1;DCLK1,missense_variant,p.Leu356Val,ENST00000255448,NM_004734.4;DCLK1,missense_variant,p.Leu49Val,ENST00000379893,NM_001195416.1;	C	ENST00000255448	Transcript	missense_variant	1278/5703	1066/2190	356/729	L/V	Ctt/Gtt		1		-1	DCLK1	HGNC	HGNC:2700	protein_coding	YES	CCDS9354.1	ENSP00000255448	O15075		UPI000002A7C2	NM_004734.4	tolerated(0.56)		7/18		hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF122																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	35839146	35839146	G	C	1	0	0	0	0	1	0	0	0	4093	1029	36	4		4	DCLK1	13	35839146	Missense_Mutation	SNP	G	C3N-00175_TP	896213	35839146	78525182	993	11143											
LHFP	0	.	GRCh38	chr13	39378483	39378483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccggacttcctcactgtcCcagcccaaggggtagagggc	7	7	13	14	1	1	1	1	0	0	1	3	2	3	2	4	4	2	1	4	4	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.429G>T	p.Trp143Cys	p.W143C	ENST00000379589	3/4	160	132	28	193	192	1	strelka-varscan-mutect	LHFP,missense_variant,p.Trp143Cys,ENST00000379589,NM_005780.2;	A	ENST00000379589	Transcript	missense_variant	892/2110	429/603	143/200	W/C	tgG/tgT		1		-1	LHFP	HGNC	HGNC:6586	protein_coding	YES	CCDS9369.1	ENSP00000368908	Q9Y693	A0A024RDR1	UPI000006D140	NM_005780.2	deleterious(0)		3/4		Pfam_domain:PF10242,hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF12,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	39378483	39378483	C	A	1	0	0	0	0	1	0	0	0	8672	624	22	2		2	LHFP	13	39378483	Missense_Mutation	SNP	C	C3N-00175_TP	3539337	39378483	74985845	994	11144											
ELF1	0	.	GRCh38	chr13	40934026	40934026	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggttggagcctgtataGtcctattgagatgatgaaat	10	14	12	5	0	0	3	0	3	0	1	1	5	1	4	2	2	1	2	2	2	4	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1259C>G	p.Thr420Ser	p.T420S	ENST00000239882	9/9	75	69	6	97	97	0	strelka-varscan-mutect	ELF1,missense_variant,p.Thr420Ser,ENST00000239882,NM_172373.3;ELF1,missense_variant,p.Thr162Ser,ENST00000442101,;ELF1,missense_variant,p.Thr420Ser,ENST00000635415,;ELF1,missense_variant,p.Thr396Ser,ENST00000625359,NM_001145353.1;ELF1,splice_region_variant,,ENST00000498824,;	C	ENST00000239882	Transcript	missense_variant,splice_region_variant	1574/3566	1259/1860	420/619	T/S	aCt/aGt		1		-1	ELF1	HGNC	HGNC:3316	protein_coding	YES	CCDS9374.1	ENSP00000239882	P32519	A0A024RDU6	UPI000007071F	NM_172373.3	tolerated(0.29)		9/9		hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF156																	MODERATE	1	SNV	1			1										PASS		rs1467314988	.												C	3	2	39	40934026	40934026	G	C	1	0	0	0	0	1	0	0	0	4886	1043	36	4		4	ELF1	13	40934026	Missense_Mutation	SNP	G	C3N-00175_TP	1555543	40934026	73430302	995	11145											
KBTBD6	0	.	GRCh38	chr13	41131436	41131436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccccgagtatggatcaCagcagagaaagggatctctg	11	7	13	10	1	2	1	1	0	1	1	4	5	3	3	2	3	1	2	2	3	2	1	rs771122221		C3N-00175_TP	C3N-00175_NB	C	C																c.1076G>A	p.Cys359Tyr	p.C359Y	ENST00000379485	1/1	163	154	9	261	256	5	varscan-mutect	KBTBD6,missense_variant,p.Cys359Tyr,ENST00000379485,NM_152903.4;RP11-74J13.8,upstream_gene_variant,,ENST00000619407,;RP11-74J13.8,upstream_gene_variant,,ENST00000620300,;RP11-74J13.8,upstream_gene_variant,,ENST00000616251,;RP11-74J13.8,upstream_gene_variant,,ENST00000615685,;	T	ENST00000379485	Transcript	missense_variant	1311/5178	1076/2025	359/674	C/Y	tGt/tAt	rs771122221	1		-1	KBTBD6	HGNC	HGNC:25340	protein_coding	YES	CCDS9376.1	ENSP00000368799	Q86V97		UPI00001969BB	NM_152903.4	tolerated(0.97)		1/1		hmmpanther:PTHR24412:SF132,hmmpanther:PTHR24412,Gene3D:1zgkA00,Superfamily_domains:0052715																	MODERATE		SNV				1										PASS		rs771122221	.												T	3	4	39	41131436	41131436	C	T	1	0	0	0	0	1	0	0	0	7913	478	17	3		3	KBTBD6	13	41131436	Missense_Mutation	SNP	C	C3N-00175_TP	197410	41131436	73232892	996	11146											
MTRF1	0	.	GRCh38	chr13	41217228	41217228	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcccaccacataaaaattCctggtaaaagagagagctat	16	9	6	10	0	0	2	0	0	0	2	2	3	2	2	3	1	1	2	3	1	6	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1225G>T	p.Glu409Ter	p.E409*	ENST00000379480	10/10	99	82	17	141	141	0	strelka-varscan-mutect	MTRF1,stop_gained,p.Glu409Ter,ENST00000379480,NM_004294.2;MTRF1,stop_gained,p.Glu409Ter,ENST00000379477,;RP11-74J13.8,intron_variant,,ENST00000619407,;MTRF1,splice_region_variant,,ENST00000473492,;	A	ENST00000379480	Transcript	stop_gained,splice_region_variant	1326/2185	1225/1338	409/445	E/*	Gaa/Taa		1		-1	MTRF1	HGNC	HGNC:7469	protein_coding	YES	CCDS9378.1	ENSP00000368793	O75570	A0A024RDT1	UPI0000035FC6	NM_004294.2			10/10		hmmpanther:PTHR11075,hmmpanther:PTHR11075:SF44,Superfamily_domains:SSF75620																	HIGH	1	SNV	1			1										PASS		rs1292042060	.												A	4	1	39	41217228	41217228	C	A	1	0	0	0	0	0	1	0	0	9945	869	30	2		2	MTRF1	13	41217228	Nonsense_Mutation	SNP	C	C3N-00175_TP	85792	41217228	73147100	997	11147											
DGKH	0	.	GRCh38	chr13	42190504	42190504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaagctaaagatgatGgtgccaaagaatcaataact	18	7	11	5	0	1	3	1	1	0	2	1	5	1	5	1	3	3	1	1	3	7	2	rs113799173		C3N-00175_TP	C3N-00175_NB	G	G																c.2014G>C	p.Gly672Arg	p.G672R	ENST00000337343	16/30	134	106	28	154	154	0	strelka-varscan-mutect	DGKH,missense_variant,p.Gly672Arg,ENST00000261491,NM_152910.5;DGKH,missense_variant,p.Gly672Arg,ENST00000337343,NM_178009.4;DGKH,missense_variant,p.Gly672Arg,ENST00000379274,NM_001204504.2;DGKH,missense_variant,p.Gly536Arg,ENST00000536612,NM_001204505.2;DGKH,missense_variant,p.Gly536Arg,ENST00000628433,NM_001297429.1,NM_001204506.2;DGKH,non_coding_transcript_exon_variant,,ENST00000498255,;DGKH,missense_variant,p.Gly536Arg,ENST00000627777,;DGKH,3_prime_UTR_variant,,ENST00000626247,;	C	ENST00000337343	Transcript	missense_variant	2035/4246	2014/3663	672/1220	G/R	Ggt/Cgt	rs113799173	1		1	DGKH	HGNC	HGNC:2854	protein_coding	YES	CCDS9381.1	ENSP00000337572	Q86XP1		UPI000017DA47	NM_178009.4	tolerated(0.49)		16/30																			MODERATE	1	SNV	1			1										PASS		rs113799173	.												C	3	2	39	42190504	42190504	G	C	1	0	0	0	0	1	0	0	0	4276	1348	47	4		4	DGKH	13	42190504	Missense_Mutation	SNP	G	C3N-00175_TP	973276	42190504	72173824	998	11148											
ZC3H13	0	.	GRCh38	chr13	45967629	45967629	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgctttctagatcccttTcatgttcaccttccagtttt	7	18	5	11	0	3	1	2	0	1	1	5	1	5	1	3	0	1	3	3	0	2	7	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.4196A>T	p.Glu1399Val	p.E1399V	ENST00000282007	15/17	89	77	12	118	118	0	strelka-mutect	ZC3H13,missense_variant,p.Glu1399Val,ENST00000242848,;ZC3H13,missense_variant,p.Glu1399Val,ENST00000282007,NM_015070.4;	A	ENST00000282007	Transcript	missense_variant	4267/6412	4196/4695	1399/1564	E/V	gAa/gTa		1		-1	ZC3H13	HGNC	HGNC:20368	protein_coding	YES	CCDS9400.1	ENSP00000282007	Q5T200		UPI0000366969	NM_015070.4	deleterious_low_confidence(0)		15/17		hmmpanther:PTHR13585,hmmpanther:PTHR13585:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	45967629	45967629	T	A	1	0	0	0	0	1	0	0	0	18140	1783	62	4		4	ZC3H13	13	45967629	Missense_Mutation	SNP	T	C3N-00175_TP	3777125	45967629	68396699	999	11149											
KIAA0226L	0	.	GRCh38	chr13	46372000	46372000	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcactgtcagtctcaggaTatggggaggtggccaaaatc	12	8	13	8	0	2	0	2	0	1	0	4	2	2	2	1	5	1	1	1	5	4	1	rs764713697		C3N-00175_TP	C3N-00175_NB	T	T																c.476A>T	p.Tyr159Phe	p.Y159F	ENST00000429979	3/15	129	117	12	163	163	0	strelka-varscan-mutect	KIAA0226L,missense_variant,p.Tyr159Phe,ENST00000429979,NM_025113.3;KIAA0226L,missense_variant,p.Tyr159Phe,ENST00000389908,NM_001286761.1;KIAA0226L,missense_variant,p.Tyr159Phe,ENST00000378787,NM_001286762.1;KIAA0226L,missense_variant,p.Tyr92Phe,ENST00000378784,NM_001286763.1;KIAA0226L,missense_variant,p.Tyr24Phe,ENST00000631139,NM_001286764.1;KIAA0226L,missense_variant,p.Tyr159Phe,ENST00000439642,;KIAA0226L,missense_variant,p.Tyr24Phe,ENST00000417405,;KIAA0226L,intron_variant,,ENST00000378781,NM_001286765.1;KIAA0226L,intron_variant,,ENST00000378797,NM_001286766.1;KIAA0226L,intron_variant,,ENST00000409879,;RNU2-6P,downstream_gene_variant,,ENST00000411404,;KIAA0226L,missense_variant,p.Tyr159Phe,ENST00000441284,;	A	ENST00000429979	Transcript	missense_variant	1081/3979	476/1989	159/662	Y/F	tAt/tTt	rs764713697,COSM5632862,COSM5632863,COSM5632864	1		-1	KIAA0226L	HGNC	HGNC:20420	protein_coding	YES	CCDS31970.2	ENSP00000396935	Q9H714		UPI00001FCD59	NM_025113.3	tolerated(0.7)		3/15		hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF14											0,1,1,1						MODERATE	1	SNV	5		0,1,1,1	1										PASS		rs764713697	.												A	3	1	39	46372000	46372000	T	A	1	0	0	0	0	1	0	0	0	8078	1406	49	4		4	KIAA0226L	13	46372000	Missense_Mutation	SNP	T	C3N-00175_TP	404371	46372000	67992328	1000	11150											
ATP7B	0	.	GRCh38	chr13	51937531	51937531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catccgtgccggtgccaatgGccacacccatgtctgcctgg	6	8	11	16	2	1	0	0	0	1	0	2	0	2	0	6	3	3	0	6	3	1	0	rs767380632		C3N-00175_TP	C3N-00175_NB	G	G																c.3848C>A	p.Ala1283Asp	p.A1283D	ENST00000242839	18/21	378	303	75	545	545	0	strelka-varscan-mutect	ATP7B,missense_variant,p.Ala1283Asp,ENST00000242839,NM_000053.3;ATP7B,missense_variant,p.Ala1205Asp,ENST00000448424,;ATP7B,missense_variant,p.Ala1172Asp,ENST00000400366,NM_001243182.1;ATP7B,missense_variant,p.Ala1076Asp,ENST00000344297,NM_001005918.2;ATP7B,missense_variant,p.Ala1235Asp,ENST00000634844,;ATP7B,missense_variant,p.Ala1218Asp,ENST00000418097,;ATP7B,missense_variant,p.Ala853Asp,ENST00000400370,;ATP7B,upstream_gene_variant,,ENST00000634519,;ATP7B,3_prime_UTR_variant,,ENST00000634308,;ATP7B,3_prime_UTR_variant,,ENST00000634296,;ATP7B,non_coding_transcript_exon_variant,,ENST00000634810,;ATP7B,non_coding_transcript_exon_variant,,ENST00000634620,;	T	ENST00000242839	Transcript	missense_variant	4005/6638	3848/4398	1283/1465	A/D	gCc/gAc	rs767380632	1		-1	ATP7B	HGNC	HGNC:870	protein_coding	YES	CCDS41892.1	ENSP00000242839	P35670	A0A024RDX3	UPI00001FCE15	NM_000053.3	deleterious(0)		18/21		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF326,TIGRFAM_domain:TIGR01494,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01525,Superfamily_domains:SSF56784,Prints_domain:PR00119																	MODERATE	1	SNV	1			1										PASS		rs767380632	.												T	3	4	39	51937531	51937531	G	T	1	0	0	0	0	1	0	0	0	1344	1203	42	2		2	ATP7B	13	51937531	Missense_Mutation	SNP	G	C3N-00175_TP	5565531	51937531	62426797	1001	11151											
DACH1	0	.	GRCh38	chr13	71475181	71475181	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgttctgccgccactgcgGtcagcctctatctctggggt	3	13	11	14	2	5	0	1	0	4	0	6	0	5	0	3	3	3	1	3	3	1	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2043C>T	p.=	p.D681D	ENST00000613252	10/11	226	182	44	298	298	0	strelka-varscan-mutect	DACH1,synonymous_variant,p.=,ENST00000613252,NM_080759.5;DACH1,synonymous_variant,p.=,ENST00000611519,NM_080760.5;DACH1,synonymous_variant,p.=,ENST00000620444,NM_004392.6;DACH1,synonymous_variant,p.=,ENST00000619232,;	A	ENST00000613252	Transcript	synonymous_variant	2466/5233	2043/2121	681/706	D	gaC/gaT		1		-1	DACH1	HGNC	HGNC:2663	protein_coding	YES	CCDS41899.1	ENSP00000482245	Q9UI36		UPI000007308B	NM_080759.5			10/11		hmmpanther:PTHR12577:SF14,hmmpanther:PTHR12577																	LOW	1	SNV	1			1										PASS		rs984740479	.												A	2	1	39	71475181	71475181	G	A	1	0	0	0	0	0	0	0	1	4021	1252	44	3		3	DACH1	13	71475181	Silent	SNP	G	C3N-00175_TP	19537650	71475181	42889147	1002	11152											
DACH1	0	.	GRCh38	chr13	71557023	71557023	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatatataatcatacattaCctttttcaatatgcatcctt	14	17	2	8	0	2	0	2	0	0	0	3	1	3	0	2	0	3	1	2	0	8	9	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1570+1G>T		p.X524_splice	ENST00000613252		72	63	9	80	80	0	strelka-varscan-mutect	DACH1,splice_donor_variant,,ENST00000613252,NM_080759.5;DACH1,splice_donor_variant,,ENST00000619232,;DACH1,intron_variant,,ENST00000611519,NM_080760.5;DACH1,intron_variant,,ENST00000620444,NM_004392.6;	A	ENST00000613252	Transcript	splice_donor_variant	-/5233	1570/2121	524/706				1		-1	DACH1	HGNC	HGNC:2663	protein_coding	YES	CCDS41899.1	ENSP00000482245	Q9UI36		UPI000007308B	NM_080759.5				6/10																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	39	71557023	71557023	C	A	1	0	0	0	0	0	0	1	0	4021	521	18	2		2	DACH1	13	71557023	Splice_Site	SNP	C	C3N-00175_TP	81842	71557023	42807305	1003	11153											
EDNRB	0	.	GRCh38	chr13	77903293	77903293	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccacccaaatcaaaacaaTttctactgctgtccattttg	13	12	4	12	0	2	0	1	0	1	0	3	1	3	0	3	0	3	1	3	0	5	4			C3N-00175_TP	C3N-00175_NB	T	T																c.934A>G	p.Ile312Val	p.I312V	ENST00000377211	4/8	232	200	32	240	240	0	strelka-varscan-mutect	EDNRB,missense_variant,p.Ile312Val,ENST00000377211,NM_001201397.1;EDNRB,missense_variant,p.Ile222Val,ENST00000334286,NM_000115.3,NM_001122659.2;EDNRB,missense_variant,p.Ile222Val,ENST00000626030,NM_003991.3;	C	ENST00000377211	Transcript	missense_variant	1087/4471	934/1599	312/532	I/V	Att/Gtt	COSM4048585,COSM4048586,COSM4048587	1		-1	EDNRB	HGNC	HGNC:3180	protein_coding	YES	CCDS55902.1	ENSP00000366416	P24530	A0A024R638	UPI0000046D5C	NM_001201397.1	tolerated(0.3)		4/8		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF30,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												C	3	2	39	77903293	77903293	T	C	1	0	0	0	0	1	0	0	0	4748	1493	52	5		5	EDNRB	13	77903293	Missense_Mutation	SNP	T	C3N-00175_TP	6346270	77903293	36461035	1004	11154											
RNF219	0	.	GRCh38	chr13	78616171	78616171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaaggtaagcagcatcCatcgatgcttcactggatgt	10	12	10	9	1	2	0	2	0	0	0	4	2	3	1	1	2	3	4	1	2	2	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1590G>T	p.Met530Ile	p.M530I	ENST00000282003	6/6	228	196	32	301	300	1	strelka-varscan-mutect	RNF219,missense_variant,p.Met530Ile,ENST00000282003,NM_024546.3;RNF219-AS1,non_coding_transcript_exon_variant,,ENST00000606429,;RNF219-AS1,non_coding_transcript_exon_variant,,ENST00000560584,;RNF219-AS1,downstream_gene_variant,,ENST00000560209,;	A	ENST00000282003	Transcript	missense_variant	1649/3529	1590/2181	530/726	M/I	atG/atT		1		-1	RNF219	HGNC	HGNC:20308	protein_coding	YES	CCDS31997.1	ENSP00000282003	Q5W0B1		UPI0000458868	NM_024546.3	deleterious(0)		6/6		hmmpanther:PTHR14609,hmmpanther:PTHR14609:SF1																	MODERATE	1	SNV	1			1										PASS		rs954109961	.												A	3	1	39	78616171	78616171	C	A	1	0	0	0	0	1	0	0	0	13661	594	21	2		2	RNF219	13	78616171	Missense_Mutation	SNP	C	C3N-00175_TP	712878	78616171	35748157	1005	11155											
GPC5	0	.	GRCh38	chr13	91693798	91693798	+	Nonsense_Mutation	SNP	G	G	T																															tgcatggaacatacgacattGgacacgtgctgctgaacttt																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.937G>T	p.Gly313Ter	p.G313*	ENST00000377067	3/8	112	94	18	130	129	1	strelka-varscan-mutect	GPC5,stop_gained,p.Gly313Ter,ENST00000377067,NM_004466.5;GPC5,stop_gained,p.Gly205Ter,ENST00000618596,;	T	ENST00000377067	Transcript	stop_gained	1377/2957	937/1719	313/572	G/*	Gga/Tga		1		1	GPC5	HGNC	HGNC:4453	protein_coding	YES	CCDS9468.1	ENSP00000366267	P78333		UPI0000001C85	NM_004466.5			3/8		hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF12,Pfam_domain:PF01153																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	39	91693798	91693798	G	T	1	0	0	0	0	0	1	0	0	6503	1349	47	2		2	GPC5	13	91693798	Nonsense_Mutation	SNP	G	C3N-00175_TP	13077627	91693798	22670530	1006	11156	254	2									
GPC5	0	.	GRCh38	chr13	91693799	91693799	+	Missense_Mutation	SNP	G	G	T																															gcatggaacatacgacattgGacacgtgctgctgaactttc																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.938G>T	p.Gly313Val	p.G313V	ENST00000377067	3/8	108	90	18	130	129	1	strelka-varscan-mutect	GPC5,missense_variant,p.Gly313Val,ENST00000377067,NM_004466.5;GPC5,missense_variant,p.Gly205Val,ENST00000618596,;	T	ENST00000377067	Transcript	missense_variant	1378/2957	938/1719	313/572	G/V	gGa/gTa		1		1	GPC5	HGNC	HGNC:4453	protein_coding	YES	CCDS9468.1	ENSP00000366267	P78333		UPI0000001C85	NM_004466.5	deleterious(0)		3/8		hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF12,Pfam_domain:PF01153																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	91693799	91693799	G	T	1	0	0	0	0	1	0	0	0	6503	1174	41	2		2	GPC5	13	91693799	Missense_Mutation	SNP	G	C3N-00175_TP	1	91693799	22670529	1007	11157	254	2									
DCT	0	.	GRCh38	chr13	94465682	94465682	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgagttccgactaatcaGagtcggatcgtctggtctcg	7	13	11	10	4	4	2	1	1	3	1	8	4	5	3	1	2	0	1	1	2	1	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.814C>T	p.=	p.L272L	ENST00000446125	4/10	198	175	23	224	224	0	strelka-varscan-mutect	DCT,synonymous_variant,p.=,ENST00000377028,NM_001922.3;DCT,synonymous_variant,p.=,ENST00000446125,NM_001129889.1;DCT,non_coding_transcript_exon_variant,,ENST00000490854,;DCT,synonymous_variant,p.=,ENST00000483392,;DCT,non_coding_transcript_exon_variant,,ENST00000472871,;	A	ENST00000446125	Transcript	synonymous_variant	1241/2395	814/1659	272/552	L	Ctg/Ttg		1		-1	DCT	HGNC	HGNC:2709	protein_coding	YES	CCDS45060.1	ENSP00000392762	P40126		UPI0000E13F02	NM_001129889.1			4/10		Gene3D:1.10.1280.10,Pfam_domain:PF00264,hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF4,Superfamily_domains:SSF48056																	LOW	1	SNV	1			1										PASS		rs775382645	.												A	2	1	39	94465682	94465682	G	A	1	0	0	0	0	0	0	0	1	4107	933	33	3		3	DCT	13	94465682	Silent	SNP	G	C3N-00175_TP	2771883	94465682	19898646	1008	11158											
ABCC4	0	.	GRCh38	chr13	95074299	95074299	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacggcaaaccagcgggaCgttgtcaaaaacaagaacca	16	3	11	11	4	1	1	1	0	0	1	1	3	1	3	2	3	4	2	2	3	5	1	rs781637371		C3N-00175_TP	C3N-00175_NB	C	C																c.2832G>T	p.=	p.T944T	ENST00000376887	23/31	122	107	15	159	159	0	strelka-varscan-mutect	ABCC4,synonymous_variant,p.=,ENST00000376887,NM_005845.4,NM_001301829.1;ABCC4,non_coding_transcript_exon_variant,,ENST00000467685,;ABCC4,upstream_gene_variant,,ENST00000474158,;	A	ENST00000376887	Transcript	synonymous_variant	2947/5839	2832/3978	944/1325	T	acG/acT	rs781637371	1		-1	ABCC4	HGNC	HGNC:55	protein_coding	YES	CCDS9474.1	ENSP00000366084	O15439		UPI00001A36E6	NM_005845.4,NM_001301829.1			23/31		PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF237,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123																	LOW	1	SNV	1			1										PASS		rs781637371	.												A	2	1	39	95074299	95074299	C	A	1	0	0	0	0	0	0	0	1	59	523	19	1		1	ABCC4	13	95074299	Silent	SNP	C	C3N-00175_TP	608617	95074299	19290029	1009	11159											
CLYBL	0	.	GRCh38	chr13	99606710	99606710	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaagatggcgctacgtctGctgcggagggcggcgcgcgg	5	5	21	10	7	1	1	0	0	1	1	1	3	1	3	0	6	3	2	0	6	2	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.15G>C	p.=	p.L5L	ENST00000376355	1/8	60	51	9	73	73	0	strelka-varscan-mutect	CLYBL,synonymous_variant,p.=,ENST00000376355,;CLYBL,synonymous_variant,p.=,ENST00000339105,NM_206808.3;CLYBL,synonymous_variant,p.=,ENST00000376354,;	C	ENST00000376355	Transcript	synonymous_variant	42/6771	15/1023	5/340	L	ctG/ctC		1		1	CLYBL	HGNC	HGNC:18355	protein_coding	YES	CCDS32002.1	ENSP00000365533	Q8N0X4		UPI0000071ADE				1/8		Low_complexity_(Seg):seg,hmmpanther:PTHR11105:SF0,hmmpanther:PTHR11105																	LOW	1	SNV	2			1										PASS		rs1222420781	.												C	2	2	39	99606710	99606710	G	C	1	0	0	0	0	0	0	0	1	3346	1306	46	4		4	CLYBL	13	99606710	Silent	SNP	G	C3N-00175_TP	4532411	99606710	14757618	1010	11160											
TMTC4	0	.	GRCh38	chr13	100656409	100656409	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatgctttacagtagccaagGaaagataacaagaagaacag	20	6	9	6	0	0	3	0	0	0	3	0	4	0	4	1	1	5	2	1	1	9	4	rs775686914		C3N-00175_TP	C3N-00175_NB	G	G																c.612C>T	p.=	p.F204F	ENST00000342624	6/19	94	87	7	140	140	0	strelka-varscan-mutect	TMTC4,synonymous_variant,p.=,ENST00000342624,NM_032813.3;TMTC4,synonymous_variant,p.=,ENST00000376234,NM_001079669.2;TMTC4,synonymous_variant,p.=,ENST00000328767,NM_001286453.1;	A	ENST00000342624	Transcript	synonymous_variant	871/3602	612/2283	204/760	F	ttC/ttT	rs775686914	1		-1	TMTC4	HGNC	HGNC:25904	protein_coding	YES	CCDS9497.2	ENSP00000343871	Q5T4D3		UPI000004B63E	NM_032813.3			6/19		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF440,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		rs775686914	.												A	2	1	39	100656409	100656409	G	A	1	0	0	0	0	0	0	0	1	16737	1165	41	3		3	TMTC4	13	100656409	Silent	SNP	G	C3N-00175_TP	1049699	100656409	13707919	1011	11161											
NALCN	0	.	GRCh38	chr13	101074594	101074594	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcagcaagagaaacatGcctactatgataaagaagct	18	6	8	9	0	0	3	0	1	0	2	0	4	0	3	1	0	6	3	1	0	7	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.4023C>A	p.=	p.G1341G	ENST00000251127	36/44	157	145	12	187	186	1	strelka-varscan-mutect	NALCN,synonymous_variant,p.=,ENST00000251127,NM_052867.2;	T	ENST00000251127	Transcript	synonymous_variant	4105/6818	4023/5217	1341/1738	G	ggC/ggA		1		-1	NALCN	HGNC	HGNC:19082	protein_coding	YES	CCDS9498.1	ENSP00000251127	Q8IZF0	A0A024RE05	UPI000004EBBD	NM_052867.2			36/44		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF214,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	101074594	101074594	G	T	1	0	0	0	0	0	0	0	1	10155	1306	46	2		2	NALCN	13	101074594	Silent	SNP	G	C3N-00175_TP	418185	101074594	13289734	1012	11162											
NALCN	0	.	GRCh38	chr13	101124642	101124642	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactgcggtctccttttccaGaaggttccttgccctgatgc	5	13	10	13	1	1	2	0	1	1	1	4	3	3	2	4	2	3	1	4	2	1	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2158C>T	p.=	p.L720L	ENST00000251127	18/44	149	120	29	205	205	0	strelka-varscan-mutect	NALCN,synonymous_variant,p.=,ENST00000251127,NM_052867.2;NALCN,non_coding_transcript_exon_variant,,ENST00000467264,;	A	ENST00000251127	Transcript	synonymous_variant	2240/6818	2158/5217	720/1738	L	Ctg/Ttg		1		-1	NALCN	HGNC	HGNC:19082	protein_coding	YES	CCDS9498.1	ENSP00000251127	Q8IZF0	A0A024RE05	UPI000004EBBD	NM_052867.2			18/44		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF214																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	101124642	101124642	G	A	1	0	0	0	0	0	0	0	1	10155	933	33	3		3	NALCN	13	101124642	Silent	SNP	G	C3N-00175_TP	50048	101124642	13239686	1013	11163											
CCDC168	0	.	GRCh38	chr13	102730470	102730470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtccttaaatcaacagattCacatgtatttctttcttgaa	12	16	5	8	0	4	2	2	1	2	1	5	2	5	2	1	1	1	1	1	1	5	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.20227G>A	p.Glu6743Lys	p.E6743K	ENST00000322527	4/4	124	111	13	178	178	0	strelka-varscan-mutect	CCDC168,missense_variant,p.Glu6743Lys,ENST00000322527,NM_001146197.1;	T	ENST00000322527	Transcript	missense_variant	20365/21466	20227/21246	6743/7081	E/K	Gaa/Aaa		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	tolerated(1)		4/4		hmmpanther:PTHR35542,hmmpanther:PTHR35542:SF1																	MODERATE	1	SNV	3			1										PASS		.	.												T	3	4	39	102730470	102730470	C	T	1	0	0	0	0	1	0	0	0	2484	835	29	3		3	CCDC168	13	102730470	Missense_Mutation	SNP	C	C3N-00175_TP	1605828	102730470	11633858	1014	11164											
EFNB2	0	.	GRCh38	chr13	106493419	106493419	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccggcgctgttgccgtctGtgctagaacctgcagacgcg	5	9	14	13	5	1	2	0	0	1	2	2	2	2	2	3	1	4	4	3	1	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.623C>G	p.Thr208Arg	p.T208R	ENST00000245323	5/5	43	39	4	48	48	0	strelka-varscan-mutect	EFNB2,missense_variant,p.Thr208Arg,ENST00000245323,NM_004093.3;	C	ENST00000245323	Transcript	missense_variant	773/4461	623/1002	208/333	T/R	aCa/aGa		1		-1	EFNB2	HGNC	HGNC:3227	protein_coding	YES	CCDS9507.1	ENSP00000245323	P52799		UPI0000129C9B	NM_004093.3	tolerated(0.51)		5/5		hmmpanther:PTHR11304:SF18,hmmpanther:PTHR11304																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	106493419	106493419	G	C	1	0	0	0	0	1	0	0	0	4792	1377	48	4		4	EFNB2	13	106493419	Missense_Mutation	SNP	G	C3N-00175_TP	3762949	106493419	7870909	1015	11165											
LIG4	0	.	GRCh38	chr13	108210589	108210589	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagaaggatcatgcagtTgcctacagactttttccaga	12	11	8	10	0	1	3	1	0	0	3	2	4	2	4	2	1	4	2	2	1	3	5	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.680A>T	p.Gln227Leu	p.Q227L	ENST00000611712	3/3	131	105	26	206	206	0	strelka-varscan-mutect	LIG4,missense_variant,p.Gln227Leu,ENST00000611712,;LIG4,missense_variant,p.Gln227Leu,ENST00000356922,NM_002312.3;LIG4,missense_variant,p.Gln227Leu,ENST00000405925,NM_001098268.1;LIG4,missense_variant,p.Gln227Leu,ENST00000442234,NM_206937.1;LIG4,missense_variant,p.Gln160Leu,ENST00000614526,;	A	ENST00000611712	Transcript	missense_variant	1030/4180	680/2736	227/911	Q/L	cAa/cTa		1		-1	LIG4	HGNC	HGNC:6601	protein_coding	YES	CCDS9508.1	ENSP00000484288	P49917	A0A024RE06	UPI00000742BF		tolerated(0.23)		3/3		hmmpanther:PTHR10459:SF7,hmmpanther:PTHR10459,TIGRFAM_domain:TIGR00574,Superfamily_domains:SSF56091,Superfamily_domains:0050884																	MODERATE	1	SNV	4			1										PASS		.	.												A	3	1	39	108210589	108210589	T	A	1	0	0	0	0	1	0	0	0	8692	1812	63	4		4	LIG4	13	108210589	Missense_Mutation	SNP	T	C3N-00175_TP	1717170	108210589	6153739	1016	11166											
TUBGCP3	0	.	GRCh38	chr13	112554987	112554987	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccttaccagagctgctTctgtaatttccatagtacct	8	15	6	12	0	1	1	0	0	1	1	3	1	3	1	4	0	4	4	4	0	4	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.740A>T	p.Glu247Val	p.E247V	ENST00000261965	7/22	104	90	14	124	124	0	strelka-mutect	TUBGCP3,missense_variant,p.Glu247Val,ENST00000261965,NM_006322.5,NM_001286277.1;TUBGCP3,missense_variant,p.Glu247Val,ENST00000375669,NM_001286278.1;TUBGCP3,missense_variant,p.Glu247Val,ENST00000464139,NM_001286279.1;TUBGCP3,downstream_gene_variant,,ENST00000483532,;	A	ENST00000261965	Transcript	missense_variant	927/3899	740/2724	247/907	E/V	gAa/gTa		1		-1	TUBGCP3	HGNC	HGNC:18598	protein_coding	YES	CCDS9525.1	ENSP00000261965	Q96CW5		UPI000000DB88	NM_006322.5,NM_001286277.1	deleterious(0)		7/22		hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	112554987	112554987	T	A	1	0	0	0	0	1	0	0	0	17277	1783	62	4		4	TUBGCP3	13	112554987	Missense_Mutation	SNP	T	C3N-00175_TP	4344398	112554987	1809341	1017	11167											
OR4Q3	0	.	GRCh38	chr14	19747996	19747996	+	Frame_Shift_Del	DEL	G	G	-																															acaagtcatcaagctggcctGcatggacacctatgtggtag																								rs190796594		C3N-00175_TP	C3N-00175_NB	G	G																c.569delG	p.Cys190SerfsTer7	p.C190Sfs*7	ENST00000331723	1/1	388	337	51	397	397	0	sindel-varindel-pindel	OR4Q3,frameshift_variant,p.Cys190SerfsTer7,ENST00000331723,NM_172194.1;OR4N2,intron_variant,,ENST00000557414,;	-	ENST00000331723	Transcript	frameshift_variant	569/942	569/942	190/313	C/X	tGc/tc	rs190796594	1		1	OR4Q3	HGNC	HGNC:15426	protein_coding	YES	CCDS32020.1	ENSP00000330049	Q8NH05	A0A126GW32	UPI0000061EF0	NM_172194.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF208,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	HIGH	1	deletion				1										PASS		.	.												-	7	5	39	19747996	19747996	G	-	1	0	1	0	1	0	0	0	0	11157	1319	46	0		0	OR4Q3	14	19747996	Frame_Shift_Del	DEL	G	C3N-00175_TP		19747996	87295722	1018	11168											
OR4K5	0	.	GRCh38	chr14	19920776	19920776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgataccagcctgcactCccctatgtactttctcttgg	6	15	6	14	0	2	1	0	1	2	0	4	1	3	1	4	1	4	2	4	1	3	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.170C>A	p.Ser57Tyr	p.S57Y	ENST00000315915	1/1	328	241	87	289	288	1	strelka-varscan-mutect	OR4K5,missense_variant,p.Ser57Tyr,ENST00000315915,NM_001005483.1;	A	ENST00000315915	Transcript	missense_variant	195/1078	170/972	57/323	S/Y	tCc/tAc		1		1	OR4K5	HGNC	HGNC:14745	protein_coding	YES	CCDS32024.1	ENSP00000319511	Q8NGD3	A0A126GVN5	UPI0000061E9E	NM_001005483.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF46,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	19920776	19920776	C	A	1	0	0	0	0	1	0	0	0	11150	855	30	2		2	OR4K5	14	19920776	Missense_Mutation	SNP	C	C3N-00175_TP	172780	19920776	87122942	1019	11169											
OR4K5	0	.	GRCh38	chr14	19921031	19921031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagccgaaggacatgcaCtgtcttggtaatgatctcct	10	11	10	10	1	2	2	0	2	2	0	3	4	2	3	2	2	2	2	2	2	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.425C>A	p.Thr142Asn	p.T142N	ENST00000315915	1/1	514	486	28	456	456	0	strelka-varscan-mutect	OR4K5,missense_variant,p.Thr142Asn,ENST00000315915,NM_001005483.1;	A	ENST00000315915	Transcript	missense_variant	450/1078	425/972	142/323	T/N	aCt/aAt		1		1	OR4K5	HGNC	HGNC:14745	protein_coding	YES	CCDS32024.1	ENSP00000319511	Q8NGD3	A0A126GVN5	UPI0000061E9E	NM_001005483.1	tolerated(0.07)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF46,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	19921031	19921031	C	A	1	0	0	0	0	1	0	0	0	11150	565	20	2		2	OR4K5	14	19921031	Missense_Mutation	SNP	C	C3N-00175_TP	255	19921031	87122687	1020	11170											
TEP1	0	.	GRCh38	chr14	20406288	20406288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgagattcagagtctccaGaggtgagcttcacggccaga	11	8	13	9	1	3	5	2	2	1	4	4	7	3	5	2	2	1	1	2	2	0	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.680C>T	p.Ser227Phe	p.S227F	ENST00000262715	3/55	260	233	27	246	246	0	strelka-varscan-mutect	TEP1,missense_variant,p.Ser227Phe,ENST00000262715,NM_007110.4;TEP1,missense_variant,p.Ser227Phe,ENST00000556935,;TEP1,downstream_gene_variant,,ENST00000556549,;TEP1,missense_variant,p.Ser227Phe,ENST00000555727,;TEP1,upstream_gene_variant,,ENST00000557627,;	A	ENST00000262715	Transcript	missense_variant	721/10695	680/7884	227/2627	S/F	tCt/tTt		1		-1	TEP1	HGNC	HGNC:11726	protein_coding	YES	CCDS9548.1	ENSP00000262715	Q99973		UPI000013D30B	NM_007110.4	tolerated(0.77)		3/55		PROSITE_profiles:PS50988,Pfam_domain:PF05731																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	20406288	20406288	G	A	1	0	0	0	0	1	0	0	0	16175	942	33	3		3	TEP1	14	20406288	Missense_Mutation	SNP	G	C3N-00175_TP	485257	20406288	86637430	1021	11171											
RPGRIP1	0	.	GRCh38	chr14	21301044	21301044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggcgccgctctcggaGaccgcaaggcgcgggcagaa	8	2	18	13	7	1	2	0	0	1	2	2	4	1	2	2	5	0	3	2	5	2	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.297G>T	p.Glu99Asp	p.E99D	ENST00000400017	3/24	330	175	155	398	398	0	strelka-varscan-mutect	RPGRIP1,missense_variant,p.Glu99Asp,ENST00000400017,NM_020366.3;RPGRIP1,missense_variant,p.Glu99Asp,ENST00000557771,;RPGRIP1,missense_variant,p.Glu99Asp,ENST00000556336,;RPGRIP1,upstream_gene_variant,,ENST00000554750,;	T	ENST00000400017	Transcript	missense_variant	297/3940	297/3861	99/1286	E/D	gaG/gaT		1		1	RPGRIP1	HGNC	HGNC:13436	protein_coding	YES	CCDS45080.1	ENSP00000382895	Q96KN7		UPI0000071B81	NM_020366.3	tolerated(0.21)		3/24		hmmpanther:PTHR14240:SF3,hmmpanther:PTHR14240																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	21301044	21301044	G	T	1	0	0	0	0	1	0	0	0	13801	933	33	2		2	RPGRIP1	14	21301044	Missense_Mutation	SNP	G	C3N-00175_TP	894756	21301044	85742674	1022	11172											
MYH6	0	.	GRCh38	chr14	23404809	23404809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgttcacagtcttccccgCcccggattctcccctggggg	3	10	12	16	2	3	0	1	0	2	0	5	1	4	1	6	4	0	1	6	4	0	3	rs763305936		C3N-00175_TP	C3N-00175_NB	C	C																c.544G>C	p.Ala182Pro	p.A182P	ENST00000405093	7/39	374	193	181	429	429	0	strelka-varscan-mutect	MYH6,missense_variant,p.Ala182Pro,ENST00000405093,NM_002471.3;MYH6,missense_variant,p.Ala182Pro,ENST00000356287,;MYH6,non_coding_transcript_exon_variant,,ENST00000557461,;	G	ENST00000405093	Transcript	missense_variant	615/5941	544/5820	182/1939	A/P	Gcg/Ccg	rs763305936	1		-1	MYH6	HGNC	HGNC:7576	protein_coding	YES	CCDS9600.1	ENSP00000386041	P13533		UPI0000160969	NM_002471.3	deleterious(0)		7/39		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF413,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		rs763305936	.												G	3	3	39	23404809	23404809	C	G	1	0	0	0	0	1	0	0	0	10038	739	26	4		4	MYH6	14	23404809	Missense_Mutation	SNP	C	C3N-00175_TP	2103765	23404809	83638909	1023	11173											
JPH4	0	.	GRCh38	chr14	23571188	23571188	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatcccagcctcatcctCagcctcatagccagctagtt	8	11	6	16	0	3	0	3	0	0	0	5	0	5	0	5	0	5	3	5	0	2	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1543G>T	p.Glu515Ter	p.E515*	ENST00000397118	6/7	166	129	37	188	188	0	strelka-varscan-mutect	JPH4,stop_gained,p.Glu515Ter,ENST00000397118,NM_032452.2;JPH4,stop_gained,p.Glu515Ter,ENST00000356300,NM_001146028.1;JPH4,stop_gained,p.Glu516Ter,ENST00000622501,;JPH4,stop_gained,p.Glu180Ter,ENST00000544177,;AP1G2,upstream_gene_variant,,ENST00000308724,NM_001282475.1;AP1G2,upstream_gene_variant,,ENST00000397120,NM_001282474.1,NM_003917.4;AP1G2,upstream_gene_variant,,ENST00000557189,;AP1G2,upstream_gene_variant,,ENST00000556843,;RP11-66N24.3,downstream_gene_variant,,ENST00000555968,;AP1G2,upstream_gene_variant,,ENST00000556277,;AP1G2,upstream_gene_variant,,ENST00000460049,;AP1G2,upstream_gene_variant,,ENST00000465445,;AP1G2,upstream_gene_variant,,ENST00000535852,;JPH4,downstream_gene_variant,,ENST00000553505,;AP1G2,upstream_gene_variant,,ENST00000556743,;AP1G2,upstream_gene_variant,,ENST00000553629,;AP1G2,upstream_gene_variant,,ENST00000557619,;AP1G2,upstream_gene_variant,,ENST00000555896,;AP1G2,upstream_gene_variant,,ENST00000554069,;AP1G2,upstream_gene_variant,,ENST00000556943,;AP1G2,upstream_gene_variant,,ENST00000557482,;AP1G2,upstream_gene_variant,,ENST00000553756,;AP1G2,upstream_gene_variant,,ENST00000554312,;AP1G2,upstream_gene_variant,,ENST00000553685,;AP1G2,upstream_gene_variant,,ENST00000554816,;	A	ENST00000397118	Transcript	stop_gained	2446/4386	1543/1887	515/628	E/*	Gag/Tag		1		-1	JPH4	HGNC	HGNC:20156	protein_coding	YES	CCDS9603.1	ENSP00000380307	Q96JJ6		UPI00001C1F68	NM_032452.2			6/7		Low_complexity_(Seg):seg,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF14,PIRSF_domain:PIRSF037387																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	23571188	23571188	C	A	1	0	0	0	0	0	1	0	0	7875	835	29	2		2	JPH4	14	23571188	Nonsense_Mutation	SNP	C	C3N-00175_TP	166379	23571188	83472530	1024	11174											
NYNRIN	0	.	GRCh38	chr14	24409372	24409373	+	Frame_Shift_Ins	INS	-	-	G																															aagggaagcccgtggctcaaINSggggggctgacagatcagtc																								novel		C3N-00175_TP	C3N-00175_NB	-	-																c.1584dupG	p.Leu529AlafsTer14	p.L529Afs*14	ENST00000382554	4/9	151	119	32	207	207	0	sindel-varindel-pindel	NYNRIN,frameshift_variant,p.Leu529AlafsTer14,ENST00000382554,NM_025081.2;NYNRIN,upstream_gene_variant,,ENST00000554505,;	G	ENST00000382554	Transcript	frameshift_variant	1896-1897/7857	1578-1579/5697	526-527/1898	-/X	-/G		1		1	NYNRIN	HGNC	HGNC:20165	protein_coding	YES	CCDS45090.1	ENSP00000371994	Q9P2P1		UPI0000251E63	NM_025081.2			4/9		hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2																	HIGH	1	insertion	5	6		1										PASS		.	.												G	7	5	39	24409372	24409372	-	G	1	0	1	1	0	0	0	0	0	10874	69	3	0		0	NYNRIN	14	24409372	Frame_Shift_Ins	INS	-	C3N-00175_TP	838184	24409372	82634346	1025	11175											
G2E3	0	.	GRCh38	chr14	30589385	30589385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaatatattcatagttGatgtcaagtggaatttggca	13	15	10	3	0	2	2	2	2	0	1	2	4	2	3	0	2	0	2	0	2	6	7	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.138G>T	p.Leu46Phe	p.L46F	ENST00000206595	4/15	38	30	8	84	84	0	strelka-varscan-mutect	G2E3,missense_variant,p.Leu46Phe,ENST00000206595,NM_017769.3;G2E3,missense_variant,p.Leu76Phe,ENST00000553504,;G2E3,missense_variant,p.Leu46Phe,ENST00000547532,;G2E3,missense_variant,p.Leu46Phe,ENST00000550944,;G2E3,missense_variant,p.Leu46Phe,ENST00000554714,;G2E3,missense_variant,p.Leu46Phe,ENST00000555429,;G2E3,splice_region_variant,,ENST00000438909,NM_001308097.1;G2E3,upstream_gene_variant,,ENST00000552515,;G2E3,splice_region_variant,,ENST00000544007,;G2E3,splice_region_variant,,ENST00000552488,;G2E3,upstream_gene_variant,,ENST00000549553,;	T	ENST00000206595	Transcript	missense_variant,splice_region_variant	292/5804	138/2121	46/706	L/F	ttG/ttT		1		1	G2E3	HGNC	HGNC:20338	protein_coding	YES	CCDS9638.1	ENSP00000206595	Q7L622		UPI000013F3A8	NM_017769.3	deleterious(0)		4/15		hmmpanther:PTHR12420,hmmpanther:PTHR12420:SF26,Pfam_domain:PF13771																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	30589385	30589385	G	T	1	0	0	0	0	1	0	0	0	6011	1304	45	2		2	G2E3	14	30589385	Missense_Mutation	SNP	G	C3N-00175_TP	6180013	30589385	76454333	1026	11176											
AKAP6	0	.	GRCh38	chr14	32823136	32823136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgcatcaaagatgaggatGacgactccagtattgcaaca	14	9	10	8	1	1	3	1	2	0	1	2	5	2	4	1	1	3	3	1	1	3	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.5323G>A	p.Asp1775Asn	p.D1775N	ENST00000280979	13/14	191	100	91	208	208	0	strelka-varscan-mutect	AKAP6,missense_variant,p.Asp1775Asn,ENST00000280979,NM_004274.4;AKAP6,intron_variant,,ENST00000557272,;	A	ENST00000280979	Transcript	missense_variant	5493/15006	5323/6960	1775/2319	D/N	Gac/Aac		1		1	AKAP6	HGNC	HGNC:376	protein_coding	YES	CCDS9644.1	ENSP00000280979	Q13023		UPI000013DC48	NM_004274.4	deleterious(0)		13/14		hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	32823136	32823136	G	A	1	0	0	0	0	1	0	0	0	539	1290	45	3		3	AKAP6	14	32823136	Missense_Mutation	SNP	G	C3N-00175_TP	2233751	32823136	74220582	1027	11177											
NPAS3	0	.	GRCh38	chr14	33800867	33800867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgcacgctgttaacttcGtggacgttaacagccccggc	8	8	11	14	6	0	0	0	0	0	0	1	1	0	1	2	2	3	4	2	2	2	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2560G>A	p.Val854Met	p.V854M	ENST00000356141	12/12	433	382	51	400	400	0	strelka-varscan-mutect	NPAS3,missense_variant,p.Val822Met,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Val824Met,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Val859Met,ENST00000551492,;NPAS3,missense_variant,p.Val854Met,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Val841Met,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Val828Met,ENST00000551634,;	A	ENST00000356141	Transcript	missense_variant	2560/2802	2560/2802	854/933	V/M	Gtg/Atg		1		1	NPAS3	HGNC	HGNC:19311	protein_coding	YES	CCDS53891.1	ENSP00000348460	Q8IXF0	X5D2Q4	UPI00000743C2	NM_001164749.1	tolerated_low_confidence(0.29)		12/12		hmmpanther:PTHR23043:SF30,hmmpanther:PTHR23043																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	33800867	33800867	G	A	1	0	0	0	0	1	0	0	0	10612	1145	40	1		1	NPAS3	14	33800867	Missense_Mutation	SNP	G	C3N-00175_TP	977731	33800867	73242851	1028	11178											
MIA2	0	.	GRCh38	chr14	39247895	39247895	+	Frame_Shift_Del	DEL	A	A	-																															aaacagaagatcaaatagacAagaaaccagtctcagaaaaa																								rs545679883		C3N-00175_TP	C3N-00175_NB	A	A																c.1322delA	p.Lys441ArgfsTer17	p.K441Rfs*17	ENST00000553728	4/28	50	38	12	92	92	0	sindel-varindel-pindel	RP11-407N17.3,frameshift_variant,p.Lys441ArgfsTer17,ENST00000553728,;MIA2,frameshift_variant,p.Lys441ArgfsTer17,ENST00000280082,NM_054024.3;MIA2,non_coding_transcript_exon_variant,,ENST00000556784,;	-	ENST00000553728	Transcript	frameshift_variant	1534/4392	1321/4020	441/1339	K/X	Aag/ag	rs545679883	1		1	RP11-407N17.3	Clone_based_vega_gene		protein_coding	YES		ENSP00000452252		G3V599	UPI00021CF1EF				4/28		Low_complexity_(Seg):seg,hmmpanther:PTHR23158:SF38,hmmpanther:PTHR23158																	HIGH		deletion	5	1		1										PASS		.	.												-	7	5	39	39247895	39247895	A	-	1	0	1	0	1	0	0	0	0	9521	131	5	0		0	MIA2	14	39247895	Frame_Shift_Del	DEL	A	C3N-00175_TP	5447028	39247895	67795823	1029	11179											
LRFN5	0	.	GRCh38	chr14	41891394	41891394	+	Frame_Shift_Del	DEL	G	G	-																															ggttgcatccagtttactacGgaacaggattatgtgcgttg																								rs181411518		C3N-00175_TP	C3N-00175_NB	G	G																c.1531delG	p.Glu511AsnfsTer19	p.E511Nfs*19	ENST00000298119	4/6	227	119	108	283	283	0	sindel-varindel-pindel	LRFN5,frameshift_variant,p.Glu511AsnfsTer19,ENST00000298119,NM_152447.3;LRFN5,intron_variant,,ENST00000554171,;LRFN5,intron_variant,,ENST00000554120,;	-	ENST00000298119	Transcript	frameshift_variant	2719/3723	1530/2160	510/719	T/X	acG/ac	rs181411518,COSM5517008	1		1	LRFN5	HGNC	HGNC:20360	protein_coding	YES	CCDS9678.1	ENSP00000298119	Q96NI6		UPI000000DA1E	NM_152447.3			4/6		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3											0,1						HIGH	1	deletion	1	1	0,1	1										PASS		.	.												-	7	5	39	41891394	41891394	G	-	1	0	1	0	1	0	0	0	0	8835	1103	39	0		0	LRFN5	14	41891394	Frame_Shift_Del	DEL	G	C3N-00175_TP	2643499	41891394	65152324	1030	11180											
MDGA2	0	.	GRCh38	chr14	47218074	47218074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaccccaagccattctctGctttacagtaataccggcct	10	10	7	14	1	1	1	0	0	1	1	2	2	1	1	5	1	4	2	5	1	4	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.335C>A	p.Ala112Glu	p.A112E	ENST00000399232	3/17	144	115	29	140	140	0	strelka-varscan-mutect	MDGA2,missense_variant,p.Ala112Glu,ENST00000399232,NM_001113498.2;MDGA2,missense_variant,p.Ala136Glu,ENST00000486952,;MDGA2,5_prime_UTR_variant,,ENST00000426342,;MDGA2,5_prime_UTR_variant,,ENST00000357362,NM_182830.4;MDGA2,5_prime_UTR_variant,,ENST00000557238,;MDGA2,5_prime_UTR_variant,,ENST00000482848,;	T	ENST00000399232	Transcript	missense_variant	700/5075	335/2871	112/956	A/E	gCa/gAa		1		-1	MDGA2	HGNC	HGNC:19835	protein_coding	YES	CCDS45098.3	ENSP00000382178	Q7Z553		UPI00001C14FF	NM_001113498.2	deleterious(0)		3/17		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF62,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	47218074	47218074	G	T	1	0	0	0	0	1	0	0	0	9345	1319	46	2		2	MDGA2	14	47218074	Missense_Mutation	SNP	G	C3N-00175_TP	5326680	47218074	59825644	1031	11181											
C14orf37	0	.	GRCh38	chr14	58138997	58138997	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaatacttcttcagctGaggggacacctgactcagta	13	9	8	11	0	3	2	2	2	1	0	3	3	3	3	2	2	3	2	2	2	4	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.362C>A	p.Ser121Ter	p.S121*	ENST00000267485	2/8	126	98	28	169	169	0	strelka-varscan-mutect	C14orf37,stop_gained,p.Ser121Ter,ENST00000267485,NM_001001872.2;C14orf37,non_coding_transcript_exon_variant,,ENST00000334342,;C14orf37,non_coding_transcript_exon_variant,,ENST00000557175,;C14orf37,downstream_gene_variant,,ENST00000554218,;UBA52P3,upstream_gene_variant,,ENST00000491303,;	T	ENST00000267485	Transcript	stop_gained	557/6495	362/2325	121/774	S/*	tCa/tAa		1		-1	C14orf37	HGNC	HGNC:19846	protein_coding	YES	CCDS32089.1	ENSP00000267485	Q86TY3		UPI000000CC37	NM_001001872.2			2/8		hmmpanther:PTHR21585,hmmpanther:PTHR21585:SF0,Pfam_domain:PF15767																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	39	58138997	58138997	G	T	1	0	0	0	0	0	1	0	0	1838	1294	45	2		2	C14orf37	14	58138997	Nonsense_Mutation	SNP	G	C3N-00175_TP	10920923	58138997	48904721	1032	11182											
DACT1	0	.	GRCh38	chr14	58646566	58646566	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttcccggcaggcccgcggGcgggggccacagggcgggga	4	3	21	13	5	0	0	0	0	0	0	1	1	1	1	3	8	0	2	3	8	0	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1943G>C	p.Gly648Ala	p.G648A	ENST00000335867	4/4	65	53	12	64	64	0	strelka-varscan-mutect	DACT1,missense_variant,p.Gly611Ala,ENST00000395153,NM_001079520.1;DACT1,missense_variant,p.Gly367Ala,ENST00000541264,;DACT1,missense_variant,p.Gly648Ala,ENST00000335867,NM_016651.5;DACT1,missense_variant,p.Gly367Ala,ENST00000556859,;DACT1,downstream_gene_variant,,ENST00000421793,;DACT1,downstream_gene_variant,,ENST00000555845,;	C	ENST00000335867	Transcript	missense_variant	1967/2571	1943/2511	648/836	G/A	gGc/gCc		1		1	DACT1	HGNC	HGNC:17748	protein_coding	YES	CCDS9736.1	ENSP00000337439	Q9NYF0		UPI000013E4D3	NM_016651.5	tolerated(0.34)		4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF12,Pfam_domain:PF15268																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	39	58646566	58646566	G	C	1	0	0	0	0	1	0	0	0	4023	1203	42	4		4	DACT1	14	58646566	Missense_Mutation	SNP	G	C3N-00175_TP	507569	58646566	48397152	1033	11183											
SYNE2	0	.	GRCh38	chr14	63954758	63954758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accgattttaagtcaagttgGagaaatgggatggctttttt	11	15	11	4	1	1	1	1	0	0	1	1	4	1	2	1	3	0	2	1	3	3	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.630G>T	p.Trp210Cys	p.W210C	ENST00000358025	8/116	213	119	94	214	214	0	strelka-varscan-mutect	SYNE2,missense_variant,p.Trp210Cys,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Trp210Cys,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Trp210Cys,ENST00000357395,;SYNE2,missense_variant,p.Trp210Cys,ENST00000554584,;SYNE2,missense_variant,p.Trp210Cys,ENST00000341472,;	T	ENST00000358025	Transcript	missense_variant	842/21842	630/20724	210/6907	W/C	tgG/tgT		1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2	deleterious(0)		8/116		PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF317,hmmpanther:PTHR11915,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	63954758	63954758	G	T	1	0	0	0	0	1	0	0	0	15838	1183	41	2		2	SYNE2	14	63954758	Missense_Mutation	SNP	G	C3N-00175_TP	5308192	63954758	43088960	1034	11184											
SMOC1	0	.	GRCh38	chr14	70023343	70023343	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacgtgaagaagaaagccaAgcccaagaaatgtgcccggc	15	4	11	11	2	0	4	0	1	0	3	0	4	0	4	3	1	4	0	3	1	7	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1187A>T	p.Lys396Met	p.K396M	ENST00000361956	11/12	354	303	51	416	416	0	strelka-varscan-mutect	SMOC1,missense_variant,p.Lys396Met,ENST00000381280,NM_022137.5;SMOC1,missense_variant,p.Lys396Met,ENST00000361956,NM_001034852.2;	T	ENST00000361956	Transcript	missense_variant	1450/2040	1187/1308	396/435	K/M	aAg/aTg		1		1	SMOC1	HGNC	HGNC:20318	protein_coding	YES	CCDS32110.1	ENSP00000355110	Q9H4F8		UPI0000071CCF	NM_001034852.2	deleterious(0)		11/12		Low_complexity_(Seg):seg,hmmpanther:PTHR12352,hmmpanther:PTHR12352:SF13,Gene3D:1.10.238.10,Pfam_domain:PF10591,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	70023343	70023343	A	T	1	0	0	0	0	1	0	0	0	15122	72	3	4		4	SMOC1	14	70023343	Missense_Mutation	SNP	A	C3N-00175_TP	6068585	70023343	37020375	1035	11185											
MED6	0	.	GRCh38	chr14	70584848	70584848	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtttttcaggggggccttTagcactcactgtctgttgta	5	15	11	10	1	3	0	2	0	1	0	3	0	3	0	2	3	1	4	2	3	2	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.706A>T	p.Lys236Ter	p.K236*	ENST00000615788	8/9	229	136	93	196	196	0	strelka-varscan-mutect	MED6,stop_gained,p.Lys236Ter,ENST00000256379,NM_005466.3;MED6,stop_gained,p.Lys236Ter,ENST00000615788,NM_001284211.1;MED6,stop_gained,p.Lys243Ter,ENST00000430055,NM_001284209.1;MED6,stop_gained,p.Lys236Ter,ENST00000554963,;MED6,3_prime_UTR_variant,,ENST00000440435,NM_001284210.1;MED6,non_coding_transcript_exon_variant,,ENST00000555296,;	A	ENST00000615788	Transcript	stop_gained	759/1700	706/774	236/257	K/*	Aaa/Taa		1		-1	MED6	HGNC	HGNC:19970	protein_coding	YES	CCDS73649.1	ENSP00000481920		A0A087WYL7	UPI0001EF1523	NM_001284211.1			8/9		hmmpanther:PTHR13104,PIRSF_domain:PIRSF023869																	HIGH	1	SNV	5			1										PASS		rs1296304750	.												A	4	1	39	70584848	70584848	T	A	1	0	0	0	0	0	1	0	0	9390	1763	61	4		4	MED6	14	70584848	Nonsense_Mutation	SNP	T	C3N-00175_TP	561505	70584848	36458870	1036	11186											
RGS6	0	.	GRCh38	chr14	72352183	72352183	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctctccaaaatccccaGtgtcgtcacaggtaacaccc	10	10	5	16	1	2	0	1	0	1	0	6	0	4	0	4	1	1	1	4	1	3	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.173G>C	p.Ser58Thr	p.S58T	ENST00000553525	3/18	94	58	36	109	109	0	strelka-varscan-mutect	RGS6,missense_variant,p.Ser58Thr,ENST00000553530,NM_001204418.1,NM_004296.5,NM_001204420.1,NM_001204422.1;RGS6,missense_variant,p.Ser23Thr,ENST00000622468,;RGS6,missense_variant,p.Ser23Thr,ENST00000402788,NM_001204423.1;RGS6,missense_variant,p.Ser23Thr,ENST00000343854,;RGS6,missense_variant,p.Ser58Thr,ENST00000553525,NM_001204424.1;RGS6,missense_variant,p.Ser58Thr,ENST00000555571,;RGS6,missense_variant,p.Ser58Thr,ENST00000556437,NM_001204417.1,NM_001204421.1,NM_001204419.1,NM_001204416.1;RGS6,missense_variant,p.Ser58Thr,ENST00000355512,;RGS6,missense_variant,p.Ser58Thr,ENST00000404301,;RGS6,missense_variant,p.Ser58Thr,ENST00000407322,;RGS6,missense_variant,p.Ser58Thr,ENST00000406236,;RGS6,missense_variant,p.Ser58Thr,ENST00000554474,;	C	ENST00000553525	Transcript	missense_variant	696/2005	173/1473	58/490	S/T	aGt/aCt		1		1	RGS6	HGNC	HGNC:10002	protein_coding	YES	CCDS55924.1	ENSP00000451030	P49758		UPI00001698D0	NM_001204424.1	deleterious(0.05)		3/18		PROSITE_profiles:PS50186,hmmpanther:PTHR10845:SF27,hmmpanther:PTHR10845,Gene3D:1.10.10.10,Pfam_domain:PF00610,SMART_domains:SM00049,Superfamily_domains:SSF46785																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	39	72352183	72352183	G	C	1	0	0	0	0	1	0	0	0	13480	1029	36	4		4	RGS6	14	72352183	Missense_Mutation	SNP	G	C3N-00175_TP	1767335	72352183	34691535	1037	11187											
ENTPD5	0	.	GRCh38	chr14	73988059	73988059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agacagcgctgcaaacacagGataccaccagcatgaaaaag	18	3	9	11	1	0	2	0	1	0	1	0	3	0	3	2	1	5	3	2	1	4	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.44C>T	p.Ser15Phe	p.S15F	ENST00000334696	4/16	216	162	54	282	282	0	strelka-varscan-mutect	ENTPD5,missense_variant,p.Ser15Phe,ENST00000334696,NM_001249.2;ENTPD5,missense_variant,p.Ser15Phe,ENST00000557325,;ENTPD5,missense_variant,p.Ser15Phe,ENST00000556242,;ENTPD5,missense_variant,p.Ser15Phe,ENST00000553284,;ENTPD5,downstream_gene_variant,,ENST00000554664,;	A	ENST00000334696	Transcript	missense_variant	364/5842	44/1287	15/428	S/F	tCc/tTc		1		-1	ENTPD5	HGNC	HGNC:3367	protein_coding	YES	CCDS9825.1	ENSP00000335246	O75356	A0A024R6D3	UPI0000052B69	NM_001249.2	deleterious_low_confidence(0)		4/16		hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF35,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	73988059	73988059	G	A	1	0	0	0	0	1	0	0	0	4987	1174	41	3		3	ENTPD5	14	73988059	Missense_Mutation	SNP	G	C3N-00175_TP	1635876	73988059	33055659	1038	11188											
UNC79	0	.	GRCh38	chr14	93577866	93577866	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgcctctgatcctggcCgacgagttcagcacaatatg	8	11	11	11	2	2	1	1	1	1	0	3	3	3	1	3	1	2	3	3	1	2	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1705C>T	p.Arg569Ter	p.R569*	ENST00000256339	18/50	148	118	30	169	169	0	strelka-varscan-mutect	UNC79,stop_gained,p.Arg746Ter,ENST00000553484,;UNC79,stop_gained,p.Arg746Ter,ENST00000555664,;UNC79,stop_gained,p.Arg569Ter,ENST00000256339,NM_020818.3;UNC79,stop_gained,p.Arg746Ter,ENST00000393151,;UNC79,stop_gained,p.Arg569Ter,ENST00000621021,;	T	ENST00000256339	Transcript	stop_gained	2360/8400	1705/7377	569/2458	R/*	Cga/Tga		1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3			18/50		hmmpanther:PTHR21696:SF2,hmmpanther:PTHR21696																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	39	93577866	93577866	C	T	1	0	0	0	0	0	1	0	0	17520	644	23	1		1	UNC79	14	93577866	Nonsense_Mutation	SNP	C	C3N-00175_TP	19589807	93577866	13465852	1039	11189											
PPP4R4	0	.	GRCh38	chr14	94242386	94242386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtaccagtcagatacaCtattgctatttgcttttatg	11	16	7	7	0	1	2	1	1	0	1	1	2	1	2	1	0	4	3	1	0	6	8	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1244C>A	p.Thr415Asn	p.T415N	ENST00000304338	11/25	144	118	26	162	162	0	strelka-varscan-mutect	PPP4R4,missense_variant,p.Thr415Asn,ENST00000304338,NM_058237.1;	A	ENST00000304338	Transcript	missense_variant	1398/3868	1244/2622	415/873	T/N	aCt/aAt		1		1	PPP4R4	HGNC	HGNC:23788	protein_coding	YES	CCDS9921.1	ENSP00000305924	Q6NUP7		UPI000016223B	NM_058237.1	deleterious(0.01)		11/25		Gene3D:1.25.10.10,hmmpanther:PTHR21467,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	94242386	94242386	C	A	1	0	0	0	0	1	0	0	0	12530	565	20	2		2	PPP4R4	14	94242386	Missense_Mutation	SNP	C	C3N-00175_TP	664520	94242386	12801332	1040	11190											
SERPINA6	0	.	GRCh38	chr14	94314327	94314327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggtgcaggtgctggaaacCctggtggatctcagtctcag	7	11	14	9	0	2	0	2	0	2	0	4	2	2	2	1	5	3	2	1	5	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.322G>T	p.Gly108Cys	p.G108C	ENST00000341584	2/5	446	281	165	483	482	1	strelka-varscan-mutect	SERPINA6,missense_variant,p.Gly108Cys,ENST00000341584,NM_001756.3;SERPINA6,missense_variant,p.Gly108Cys,ENST00000557225,;SERPINA6,missense_variant,p.Gly108Cys,ENST00000555056,;	A	ENST00000341584	Transcript	missense_variant	469/1534	322/1218	108/405	G/C	Ggt/Tgt		1		-1	SERPINA6	HGNC	HGNC:1540	protein_coding	YES	CCDS9924.1	ENSP00000342850	P08185		UPI0000127182	NM_001756.3	deleterious(0)		2/5		hmmpanther:PTHR11461:SF34,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	94314327	94314327	C	A	1	0	0	0	0	1	0	0	0	14369	623	22	2		2	SERPINA6	14	94314327	Missense_Mutation	SNP	C	C3N-00175_TP	71941	94314327	12729391	1041	11191											
SERPINA11	0	.	GRCh38	chr14	94446381	94446381	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtctgtggctgcagagcAgcctccacctgcttcatttt	6	12	11	12	0	2	1	1	0	1	1	3	1	3	1	3	2	4	4	3	2	0	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.867T>A	p.=	p.A289A	ENST00000334708	3/5	182	154	28	190	190	0	strelka-varscan-mutect	SERPINA11,synonymous_variant,p.=,ENST00000334708,NM_001080451.1;RP11-349I1.2,intron_variant,,ENST00000536735,;	T	ENST00000334708	Transcript	synonymous_variant	932/1476	867/1269	289/422	A	gcT/gcA		1		-1	SERPINA11	HGNC	HGNC:19193	protein_coding	YES	CCDS32149.1	ENSP00000335024	Q86U17		UPI000015DA3A	NM_001080451.1			3/5		Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF154,SMART_domains:SM00093,Superfamily_domains:SSF56574																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	94446381	94446381	A	T	1	0	0	0	0	0	0	0	1	14364	175	7	4		4	SERPINA11	14	94446381	Silent	SNP	A	C3N-00175_TP	132054	94446381	12597337	1042	11192											
SERPINA5	0	.	GRCh38	chr14	94590305	94590305	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagtggcttaagatgttcaAaaagaggtactttcagacta	15	11	10	5	0	2	3	2	0	0	3	2	4	2	3	0	2	1	3	0	2	6	5	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.884A>C	p.Lys295Thr	p.K295T	ENST00000329597	4/6	18	15	3	40	40	0	strelka-mutect	SERPINA5,missense_variant,p.Lys295Thr,ENST00000329597,NM_000624.5;SERPINA5,missense_variant,p.Lys295Thr,ENST00000554866,;SERPINA5,missense_variant,p.Lys295Thr,ENST00000554276,;SERPINA5,missense_variant,p.Lys295Thr,ENST00000553780,;SERPINA5,missense_variant,p.Lys295Thr,ENST00000554760,;SERPINA5,downstream_gene_variant,,ENST00000556775,;SERPINA5,downstream_gene_variant,,ENST00000555681,;SERPINA5,downstream_gene_variant,,ENST00000557598,;SERPINA5,downstream_gene_variant,,ENST00000554220,;SERPINA5,downstream_gene_variant,,ENST00000553511,;SERPINA5,downstream_gene_variant,,ENST00000554633,;SERPINA5,downstream_gene_variant,,ENST00000556064,;SERPINA5,non_coding_transcript_exon_variant,,ENST00000556730,;SERPINA3,upstream_gene_variant,,ENST00000553947,;	C	ENST00000329597	Transcript	missense_variant	1119/2337	884/1221	295/406	K/T	aAa/aCa		1		1	SERPINA5	HGNC	HGNC:8723	protein_coding	YES	CCDS9928.1	ENSP00000333203	P05154	A0A024R6N9	UPI000013E52C	NM_000624.5	tolerated(0.65)		4/6		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF176,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	94590305	94590305	A	C	1	0	0	0	0	1	0	0	0	14368	14	1	5		5	SERPINA5	14	94590305	Missense_Mutation	SNP	A	C3N-00175_TP	143924	94590305	12453413	1043	11193											
EML1	0	.	GRCh38	chr14	99907706	99907706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgtatgggactggcaGaaagaagaaaaactagcaga	16	7	11	7	0	1	4	0	0	1	4	2	5	1	5	0	2	2	3	0	2	6	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1134G>T	p.Gln378His	p.Q378H	ENST00000334192	11/23	204	172	32	220	220	0	strelka-varscan-mutect	EML1,missense_variant,p.Gln359His,ENST00000262233,NM_004434.2;EML1,missense_variant,p.Gln378His,ENST00000334192,NM_001008707.1;EML1,missense_variant,p.Gln347His,ENST00000327921,;EML1,missense_variant,p.Gln346His,ENST00000554479,;EML1,intron_variant,,ENST00000554386,;EML1,non_coding_transcript_exon_variant,,ENST00000555812,;EML1,missense_variant,p.Gln101His,ENST00000554553,;EML1,non_coding_transcript_exon_variant,,ENST00000554111,;	T	ENST00000334192	Transcript	missense_variant	1268/4064	1134/2505	378/834	Q/H	caG/caT		1		1	EML1	HGNC	HGNC:3330	protein_coding	YES	CCDS32154.1	ENSP00000334314	O00423		UPI00004A074E	NM_001008707.1	deleterious(0.01)		11/23		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF22,Superfamily_domains:SSF50998																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	99907706	99907706	G	T	1	0	0	0	0	1	0	0	0	4939	933	33	2		2	EML1	14	99907706	Missense_Mutation	SNP	G	C3N-00175_TP	5317401	99907706	7136012	1044	11194											
MOK	0	.	GRCh38	chr14	102263574	102263574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcataaatattcatgtcCataagttcacatattagtgc	14	14	5	8	0	3	0	3	0	0	0	4	0	4	0	1	0	2	2	1	0	6	7	rs536673850		C3N-00175_TP	C3N-00175_NB	C	C																c.255G>A	p.Met85Ile	p.M85I	ENST00000361847	4/12	64	59	5	135	135	0	strelka-mutect	MOK,missense_variant,p.Met85Ile,ENST00000361847,NM_014226.2;MOK,missense_variant,p.Met85Ile,ENST00000522874,;MOK,missense_variant,p.Met85Ile,ENST00000193029,;MOK,missense_variant,p.Met55Ile,ENST00000524214,NM_001272011.1;MOK,non_coding_transcript_exon_variant,,ENST00000524019,;MOK,non_coding_transcript_exon_variant,,ENST00000521966,;MOK,intron_variant,,ENST00000521493,;MOK,missense_variant,p.Met85Ile,ENST00000517537,;MOK,3_prime_UTR_variant,,ENST00000520238,;MOK,3_prime_UTR_variant,,ENST00000524207,;MOK,non_coding_transcript_exon_variant,,ENST00000518686,;MOK,non_coding_transcript_exon_variant,,ENST00000523485,;MOK,non_coding_transcript_exon_variant,,ENST00000519569,;MOK,intron_variant,,ENST00000521766,;MOK,intron_variant,,ENST00000521388,;MOK,intron_variant,,ENST00000562292,;MOK,intron_variant,,ENST00000518399,;MOK,intron_variant,,ENST00000518482,;MOK,intron_variant,,ENST00000519877,;MOK,intron_variant,,ENST00000522093,;	T	ENST00000361847	Transcript	missense_variant	487/1940	255/1260	85/419	M/I	atG/atA	rs536673850	1		-1	MOK	HGNC	HGNC:9833	protein_coding	YES	CCDS9971.1	ENSP00000355304	Q9UQ07		UPI0000035B77	NM_014226.2	deleterious(0)		4/12		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF72,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	102263574	102263574	C	T	1	0	0	0	0	1	0	0	0	9661	594	21	3		3	MOK	14	102263574	Missense_Mutation	SNP	C	C3N-00175_TP	2355868	102263574	4780144	1045	11195											
ASPG	0	.	GRCh38	chr14	104097585	104097585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgtggagcgacggccGtgagaacctgctgggggcac	6	6	17	12	3	0	1	0	1	0	1	0	4	0	2	3	4	4	2	3	4	1	0	rs765497573		C3N-00175_TP	C3N-00175_NB	G	G																c.461G>T	p.Arg154Leu	p.R154L	ENST00000551177	5/16	137	83	54	225	225	0	strelka-varscan-mutect	ASPG,missense_variant,p.Arg154Leu,ENST00000551177,NM_001080464.2;ASPG,missense_variant,p.Arg154Leu,ENST00000546892,;ASPG,missense_variant,p.Arg91Leu,ENST00000551170,;ASPG,non_coding_transcript_exon_variant,,ENST00000548372,;	T	ENST00000551177	Transcript	missense_variant	553/4851	461/1722	154/573	R/L	cGt/cTt	rs765497573	1		1	ASPG	HGNC	HGNC:20123	protein_coding	YES	CCDS45170.2	ENSP00000450040	Q86U10		UPI00001D7B76	NM_001080464.2	deleterious(0.02)		5/16		PROSITE_profiles:PS51732,hmmpanther:PTHR11707:SF28,hmmpanther:PTHR11707,TIGRFAM_domain:TIGR00519,PIRSF_domain:PIRSF001220,Gene3D:3.40.50.1170,Pfam_domain:PF00710,PIRSF_domain:PIRSF500176,SMART_domains:SM00870,Superfamily_domains:SSF53774																	MODERATE	1	SNV	1			1										PASS		rs765497573	.												T	3	4	39	104097585	104097585	G	T	1	0	0	0	0	1	0	0	0	1199	1145	40	1		1	ASPG	14	104097585	Missense_Mutation	SNP	G	C3N-00175_TP	1834011	104097585	2946133	1046	11196											
AHNAK2	0	.	GRCh38	chr14	104948099	104948099	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccggggcctcgacatccAcctccacgctgggctgagac	6	6	11	18	3	0	1	0	1	0	1	4	3	3	1	5	3	0	2	5	3	0	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.7352T>A	p.Val2451Glu	p.V2451E	ENST00000333244	7/7	318	247	71	363	361	2	strelka-varscan-mutect	AHNAK2,missense_variant,p.Val2451Glu,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	T	ENST00000333244	Transcript	missense_variant	7472/18254	7352/17388	2451/5795	V/E	gTg/gAg		1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	deleterious(0.04)		7/7																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	104948099	104948099	A	T	1	0	0	0	0	1	0	0	0	492	159	6	4		4	AHNAK2	14	104948099	Missense_Mutation	SNP	A	C3N-00175_TP	850514	104948099	2095619	1047	11197											
AHNAK2	0	.	GRCh38	chr14	104950446	104950446	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctggggccgacacccCaaatgatggcatcttgaact	9	9	10	13	1	1	2	0	2	1	0	1	3	1	2	4	3	2	1	4	3	2	2	rs199554131		C3N-00175_TP	C3N-00175_NB	C	C																c.5005G>C	p.Gly1669Arg	p.G1669R	ENST00000333244	7/7	702	427	275	763	763	0	strelka-varscan-mutect	AHNAK2,missense_variant,p.Gly1669Arg,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	G	ENST00000333244	Transcript	missense_variant	5125/18254	5005/17388	1669/5795	G/R	Ggg/Cgg	rs199554131	1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	deleterious(0)		7/7		hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348																	MODERATE	1	SNV	5			1										PASS		rs199554131	.												G	3	3	39	104950446	104950446	C	G	1	0	0	0	0	1	0	0	0	492	594	21	4		4	AHNAK2	14	104950446	Missense_Mutation	SNP	C	C3N-00175_TP	2347	104950446	2093272	1048	11198											
AHNAK2	0	.	GRCh38	chr14	104951606	104951606	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacttcgtgggccgtcAcctctgccttatgacctttc	5	12	8	16	2	2	1	1	1	1	0	4	1	2	1	5	1	2	0	5	1	1	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.3845T>C	p.Val1282Ala	p.V1282A	ENST00000333244	7/7	260	186	74	341	340	1	strelka-varscan-mutect	AHNAK2,missense_variant,p.Val1282Ala,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	G	ENST00000333244	Transcript	missense_variant	3965/18254	3845/17388	1282/5795	V/A	gTg/gCg		1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	deleterious(0.01)		7/7																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	39	104951606	104951606	A	G	1	0	0	0	0	1	0	0	0	492	159	6	5		5	AHNAK2	14	104951606	Missense_Mutation	SNP	A	C3N-00175_TP	1160	104951606	2092112	1049	11199											
BTBD6	0	.	GRCh38	chr14	105249083	105249083	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccgccccacgctgcgcgaGaggtgagcccgtgccccgcg	4	4	15	18	7	0	2	0	1	0	1	0	3	0	2	6	1	4	1	6	1	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.213G>C	p.Glu71Asp	p.E71D	ENST00000392554	1/4	90	76	14	93	93	0	strelka-varscan-mutect	BTBD6,missense_variant,p.Glu71Asp,ENST00000392554,NM_033271.2;BTBD6,missense_variant,p.Glu71Asp,ENST00000536364,;BTBD6,missense_variant,p.Glu71Asp,ENST00000537513,;BTBD6,splice_region_variant,,ENST00000327471,;BTBD6,5_prime_UTR_variant,,ENST00000463376,;BRF1,intron_variant,,ENST00000547530,NM_001519.3;BRF1,intron_variant,,ENST00000379937,NM_001242788.1;BRF1,intron_variant,,ENST00000446501,NM_001242789.1;BRF1,intron_variant,,ENST00000440513,NM_001242786.1;BRF1,intron_variant,,ENST00000327359,NM_001242787.1;BRF1,intron_variant,,ENST00000619151,;BRF1,intron_variant,,ENST00000552127,;BRF1,intron_variant,,ENST00000546417,;BRF1,upstream_gene_variant,,ENST00000392557,NM_145685.2;BRF1,upstream_gene_variant,,ENST00000550375,;BRF1,upstream_gene_variant,,ENST00000550208,;BRF1,upstream_gene_variant,,ENST00000379932,;BRF1,upstream_gene_variant,,ENST00000551787,;BRF1,downstream_gene_variant,,ENST00000550692,;BTBD6,upstream_gene_variant,,ENST00000392553,;	C	ENST00000392554	Transcript	missense_variant,splice_region_variant	510/2176	213/1458	71/485	E/D	gaG/gaC		1		1	BTBD6	HGNC	HGNC:19897	protein_coding	YES	CCDS10002.2	ENSP00000376337	Q96KE9		UPI00001FDD27	NM_033271.2	tolerated(0.06)		1/4		Gene3D:3.30.710.10,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF4,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	105249083	105249083	G	C	1	0	0	0	0	1	0	0	0	1721	956	33	4		4	BTBD6	14	105249083	Missense_Mutation	SNP	G	C3N-00175_TP	297477	105249083	1794635	1050	11200											
GOLGA6L2	0	.	GRCh38	chr15	23443915	23443915	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggttgagacacagcccaaAggactccccctaaaggcctg	12	5	11	13	0	0	1	0	1	0	1	1	4	1	2	4	3	1	1	4	3	3	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.453T>C	p.=	p.P151P	ENST00000567107	5/8	238	159	79	311	311	0	strelka-varscan-mutect	GOLGA6L2,synonymous_variant,p.=,ENST00000567107,NM_001304388.1;GOLGA6L2,synonymous_variant,p.=,ENST00000312015,;GOLGA6L2,5_prime_UTR_variant,,ENST00000345070,;GOLGA6L2,synonymous_variant,p.=,ENST00000566571,;	G	ENST00000567107	Transcript	synonymous_variant	506/3030	453/2730	151/909	P	ccT/ccC		1		-1	GOLGA6L2	HGNC	HGNC:26695	protein_coding	YES	CCDS76728.1	ENSP00000454407		H3BMJ4	UPI00024672CE	NM_001304388.1			5/8																			LOW	1	SNV	5			1										PASS		.	.												G	2	3	39	23443915	23443915	A	G	1	0	0	0	0	0	0	0	1	6440	59	3	5		5	GOLGA6L2	15	23443915	Silent	SNP	A	C3N-00175_TP		23443915	78547274	1051	11201											
MKRN3	0	.	GRCh38	chr15	23566525	23566525	+	Missense_Mutation	SNP	C	C	A																															gcggttttgctattatgcttCcaggggagtttgctttcgtg																								rs369146379		C3N-00175_TP	C3N-00175_NB	C	C																c.743C>A	p.Ser248Tyr	p.S248Y	ENST00000314520	1/1	135	92	43	240	240	0	strelka-varscan-mutect	MKRN3,missense_variant,p.Ser248Tyr,ENST00000314520,NM_005664.3;MKRN3,intron_variant,,ENST00000568252,;MKRN3,intron_variant,,ENST00000564592,;AC126407.1,upstream_gene_variant,,ENST00000626930,;MIR4508,upstream_gene_variant,,ENST00000584178,;MKRN3-AS1,downstream_gene_variant,,ENST00000563044,;MKRN3,non_coding_transcript_exon_variant,,ENST00000568945,;MKRN3,intron_variant,,ENST00000570112,;	A	ENST00000314520	Transcript	missense_variant	842/2337	743/1524	248/507	S/Y	tCc/tAc	rs369146379	1		1	MKRN3	HGNC	HGNC:7114	protein_coding	YES	CCDS10013.1	ENSP00000313881	Q13064		UPI000000DAA1	NM_005664.3	deleterious(0)		1/1		PROSITE_profiles:PS50103,hmmpanther:PTHR11224:SF38,hmmpanther:PTHR11224,SMART_domains:SM00356																	MODERATE		SNV				1										PASS		rs369146379	.												A	3	1	39	23566525	23566525	C	A	1	0	0	0	0	1	0	0	0	9576	855	30	2		2	MKRN3	15	23566525	Missense_Mutation	SNP	C	C3N-00175_TP	122610	23566525	78424664	1052	11202	255	2									
MKRN3	0	.	GRCh38	chr15	23566526	23566526	+	Silent	SNP	C	C	A																															cggttttgctattatgcttcCaggggagtttgctttcgtgg																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.744C>A	p.=	p.S248S	ENST00000314520	1/1	143	98	45	241	239	2	strelka-varscan-mutect	MKRN3,synonymous_variant,p.=,ENST00000314520,NM_005664.3;MKRN3,intron_variant,,ENST00000568252,;MKRN3,intron_variant,,ENST00000564592,;AC126407.1,upstream_gene_variant,,ENST00000626930,;MIR4508,upstream_gene_variant,,ENST00000584178,;MKRN3-AS1,downstream_gene_variant,,ENST00000563044,;MKRN3,non_coding_transcript_exon_variant,,ENST00000568945,;MKRN3,intron_variant,,ENST00000570112,;	A	ENST00000314520	Transcript	synonymous_variant	843/2337	744/1524	248/507	S	tcC/tcA		1		1	MKRN3	HGNC	HGNC:7114	protein_coding	YES	CCDS10013.1	ENSP00000313881	Q13064		UPI000000DAA1	NM_005664.3			1/1		PROSITE_profiles:PS50103,hmmpanther:PTHR11224:SF38,hmmpanther:PTHR11224,SMART_domains:SM00356																	LOW		SNV				1										PASS		.	.												A	2	1	39	23566526	23566526	C	A	1	0	0	0	0	0	0	0	1	9576	581	21	2		2	MKRN3	15	23566526	Silent	SNP	C	C3N-00175_TP	1	23566526	78424663	1053	11203	255	2									
NPAP1	0	.	GRCh38	chr15	24678132	24678132	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacagtcagtcagggcAccagctacagcttccaacca	11	6	8	16	0	2	0	2	0	0	0	3	0	3	0	4	1	5	4	4	1	2	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2265A>T	p.=	p.A755A	ENST00000329468	1/1	202	135	67	309	309	0	strelka-varscan-mutect	NPAP1,synonymous_variant,p.=,ENST00000329468,NM_018958.2;	T	ENST00000329468	Transcript	synonymous_variant	2265/7526	2265/3471	755/1156	A	gcA/gcT		1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2			1/1		hmmpanther:PTHR23193:SF15,hmmpanther:PTHR23193																	LOW	1	SNV				1										PASS		.	.												T	2	4	39	24678132	24678132	A	T	1	0	0	0	0	0	0	0	1	10609	146	6	4		4	NPAP1	15	24678132	Silent	SNP	A	C3N-00175_TP	1111606	24678132	77313057	1054	11204											
HERC2	0	.	GRCh38	chr15	28234276	28234276	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagagaagatggatgactGaagccattctggaaaatgca	15	8	11	7	0	1	4	0	2	1	2	2	7	2	6	2	2	2	1	2	2	4	1	rs768276777		C3N-00175_TP	C3N-00175_NB	G	G																c.4012C>T	p.Gln1338Ter	p.Q1338*	ENST00000261609	27/93	349	305	44	424	424	0	varscan-mutect	HERC2,stop_gained,p.Gln1338Ter,ENST00000261609,NM_004667.5;HERC2,upstream_gene_variant,,ENST00000569335,;	A	ENST00000261609	Transcript	stop_gained	4121/15337	4012/14505	1338/4834	Q/*	Cag/Tag	rs768276777	1		-1	HERC2	HGNC	HGNC:4868	protein_coding	YES	CCDS10021.1	ENSP00000261609	O95714		UPI00004578F7	NM_004667.5			27/93		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF325																	HIGH	1	SNV	1			1										PASS		rs768276777	.												A	4	1	39	28234276	28234276	G	A	1	0	0	0	0	0	1	0	0	6942	1299	45	3		3	HERC2	15	28234276	Nonsense_Mutation	SNP	G	C3N-00175_TP	3556144	28234276	73756913	1055	11205											
STARD9	0	.	GRCh38	chr15	42692551	42692551	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcagcactgacatctcctTtgctcagcctgaagccagtg	9	9	10	13	0	2	2	1	2	1	0	3	3	2	2	3	0	5	3	3	0	1	1	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.10973T>G	p.Phe3658Cys	p.F3658C	ENST00000290607	23/33	135	115	20	191	191	0	strelka-varscan-mutect	STARD9,missense_variant,p.Phe3658Cys,ENST00000290607,NM_020759.2;STARD9,missense_variant,p.Phe986Cys,ENST00000562619,;	G	ENST00000290607	Transcript	missense_variant	11030/15567	10973/14103	3658/4700	F/C	tTt/tGt		1		1	STARD9	HGNC	HGNC:19162	protein_coding	YES	CCDS53935.1	ENSP00000290607	Q9P2P6		UPI0001BE8155	NM_020759.2	tolerated(0.17)		23/33		hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF48																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	39	42692551	42692551	T	G	1	0	0	0	0	1	0	0	0	15639	1841	64	5		5	STARD9	15	42692551	Missense_Mutation	SNP	T	C3N-00175_TP	14458275	42692551	59298638	1056	11206											
B2M	0	.	GRCh38	chr15	44715461	44715461	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttactcacgtcatccagcaGagaatggaaagtcaaatttc	14	11	7	9	1	3	1	3	0	0	1	5	3	4	2	1	1	2	1	1	1	4	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.106G>T	p.Glu36Ter	p.E36*	ENST00000558401	2/4	272	174	98	376	375	1	strelka-varscan-mutect	B2M,stop_gained,p.Glu36Ter,ENST00000558401,NM_004048.2;B2M,stop_gained,p.Glu36Ter,ENST00000559916,;B2M,splice_region_variant,,ENST00000544417,;B2M,non_coding_transcript_exon_variant,,ENST00000559907,;B2M,intron_variant,,ENST00000559220,;PATL2,upstream_gene_variant,,ENST00000558573,;B2M,upstream_gene_variant,,ENST00000560556,;B2M,stop_gained,p.Glu36Ter,ENST00000561424,;B2M,missense_variant,p.Arg32Ile,ENST00000557901,;B2M,non_coding_transcript_exon_variant,,ENST00000559720,;B2M,non_coding_transcript_exon_variant,,ENST00000560681,;B2M,intron_variant,,ENST00000349264,;B2M,downstream_gene_variant,,ENST00000632133,;B2M,upstream_gene_variant,,ENST00000623550,;B2M,upstream_gene_variant,,ENST00000561139,;	T	ENST00000558401	Transcript	stop_gained	176/1715	106/360	36/119	E/*	Gag/Tag		1		1	B2M	HGNC	HGNC:914	protein_coding	YES	CCDS10113.1	ENSP00000452780	P61769		UPI000000D892	NM_004048.2			2/4		PROSITE_profiles:PS50835,hmmpanther:PTHR19944:SF62,hmmpanther:PTHR19944,Pfam_domain:PF07654,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		rs1204151497	.												T	4	4	39	44715461	44715461	G	T	1	0	0	0	0	0	1	0	0	1401	956	33	2		2	B2M	15	44715461	Nonsense_Mutation	SNP	G	C3N-00175_TP	2022910	44715461	57275728	1057	11207											
SEMA6D	0	.	GRCh38	chr15	47765995	47765995	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtcgctgtgagcgttaTggatcatgtaaaaagtaagc	12	11	11	7	2	2	1	2	1	0	0	3	2	2	2	0	1	2	4	0	1	5	3	rs112152715		C3N-00175_TP	C3N-00175_NB	T	T																c.1554T>A	p.Tyr518Ter	p.Y518*	ENST00000316364	14/19	25	18	7	27	27	0	strelka-varscan-mutect	SEMA6D,stop_gained,p.Tyr518Ter,ENST00000316364,NM_153618.1;SEMA6D,stop_gained,p.Tyr518Ter,ENST00000558014,NM_001198999.1;SEMA6D,stop_gained,p.Tyr518Ter,ENST00000354744,NM_153617.1;SEMA6D,stop_gained,p.Tyr518Ter,ENST00000358066,NM_020858.1;SEMA6D,stop_gained,p.Tyr518Ter,ENST00000355997,NM_153619.1;SEMA6D,stop_gained,p.Tyr518Ter,ENST00000389428,NM_153616.1;SEMA6D,stop_gained,p.Tyr518Ter,ENST00000558816,;SEMA6D,stop_gained,p.Tyr518Ter,ENST00000536845,;SEMA6D,downstream_gene_variant,,ENST00000389425,NM_024966.2;SEMA6D,downstream_gene_variant,,ENST00000559196,;SEMA6D,upstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000561133,;SEMA6D,upstream_gene_variant,,ENST00000559064,;SEMA6D,non_coding_transcript_exon_variant,,ENST00000558431,;	A	ENST00000316364	Transcript	stop_gained	1993/6099	1554/3222	518/1073	Y/*	taT/taA	rs112152715	1		1	SEMA6D	HGNC	HGNC:16770	protein_coding	YES	CCDS32225.1	ENSP00000324857	Q8NFY4		UPI000006E201	NM_153618.1			14/19		hmmpanther:PTHR11036:SF65,hmmpanther:PTHR11036,Gene3D:3.30.1680.10,Pfam_domain:PF01437,SMART_domains:SM00423,Superfamily_domains:SSF101912,Superfamily_domains:SSF103575																	HIGH	1	SNV	1			1										PASS		rs112152715	.												A	4	1	39	47765995	47765995	T	A	1	0	0	0	0	0	1	0	0	14318	1471	51	4		4	SEMA6D	15	47765995	Nonsense_Mutation	SNP	T	C3N-00175_TP	3050534	47765995	54225194	1058	11208											
NOX5	0	.	GRCh38	chr15	69047464	69047464	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcaggatctttgcctctGagcatgccgtgctcatcggg	5	10	12	14	3	3	1	1	1	2	0	4	2	3	2	3	2	4	3	3	2	0	1	rs565188759		C3N-00175_TP	C3N-00175_NB	G	G																c.1744G>T	p.Glu582Ter	p.E582*	ENST00000388866	12/16	124	86	38	136	136	0	strelka-varscan-mutect	NOX5,stop_gained,p.Glu564Ter,ENST00000260364,;NOX5,stop_gained,p.Glu582Ter,ENST00000388866,NM_024505.3;NOX5,stop_gained,p.Glu536Ter,ENST00000448182,;NOX5,stop_gained,p.Glu554Ter,ENST00000530406,NM_001184779.1;NOX5,stop_gained,p.Glu547Ter,ENST00000455873,NM_001184780.1;RP11-809H16.4,upstream_gene_variant,,ENST00000559495,;NOX5,non_coding_transcript_exon_variant,,ENST00000525163,;NOX5,3_prime_UTR_variant,,ENST00000525143,;NOX5,non_coding_transcript_exon_variant,,ENST00000527315,;NOX5,non_coding_transcript_exon_variant,,ENST00000529367,;	T	ENST00000388866	Transcript	stop_gained	1785/2804	1744/2298	582/765	E/*	Gag/Tag	rs565188759	1		1	NOX5	HGNC	HGNC:14874	protein_coding	YES	CCDS32276.2	ENSP00000373518	Q96PH1		UPI000006DDBD	NM_024505.3			12/16		hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF58,Gene3D:3.40.50.80,Superfamily_domains:SSF52343																	HIGH	1	SNV	1			1										PASS		rs565188759	.												T	4	4	39	69047464	69047464	G	T	1	0	0	0	0	0	1	0	0	10605	1291	45	2		2	NOX5	15	69047464	Nonsense_Mutation	SNP	G	C3N-00175_TP	21281469	69047464	32943725	1059	11209											
PEAK1	0	.	GRCh38	chr15	77114275	77114275	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccctgtccagggacttctCagcaaacttgatcatgagca	10	11	8	12	0	2	2	2	2	1	0	5	3	4	3	2	1	3	2	2	1	1	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.5122G>C	p.Glu1708Gln	p.E1708Q	ENST00000560626	7/7	193	169	24	258	258	0	strelka-varscan-mutect	PEAK1,missense_variant,p.Glu1708Gln,ENST00000560626,;PEAK1,missense_variant,p.Glu1708Gln,ENST00000312493,NM_024776.3;	G	ENST00000560626	Transcript	missense_variant	5598/19217	5122/5241	1708/1746	E/Q	Gag/Cag		1		-1	PEAK1	HGNC	HGNC:29431	protein_coding	YES	CCDS42062.1	ENSP00000452796	Q9H792		UPI00002378D0		deleterious(0)		7/7		hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5																	MODERATE	1	SNV	5			1										PASS		rs1193818609	.												G	3	3	39	77114275	77114275	C	G	1	0	0	0	0	1	0	0	0	11800	835	29	4		4	PEAK1	15	77114275	Missense_Mutation	SNP	C	C3N-00175_TP	8066811	77114275	24876914	1060	11210											
MEX3B	0	.	GRCh38	chr15	82044253	82044253	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctggcatgccggtcaccTcgaacaccggctccttatcc	6	10	8	17	3	2	0	1	0	1	0	6	1	4	0	5	3	2	2	5	3	2	1	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.617A>G	p.Glu206Gly	p.E206G	ENST00000329713	2/2	90	60	30	162	162	0	strelka-varscan-mutect	MEX3B,missense_variant,p.Glu206Gly,ENST00000329713,NM_032246.4;MEX3B,3_prime_UTR_variant,,ENST00000558133,;	C	ENST00000329713	Transcript	missense_variant	1053/3528	617/1710	206/569	E/G	gAg/gGg		1		-1	MEX3B	HGNC	HGNC:25297	protein_coding	YES	CCDS10319.1	ENSP00000329918	Q6ZN04		UPI00001982CC	NM_032246.4	deleterious(0)		2/2		PROSITE_profiles:PS50084,hmmpanther:PTHR23285,hmmpanther:PTHR23285:SF5,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	82044253	82044253	T	C	1	0	0	0	0	1	0	0	0	9463	1551	54	5		5	MEX3B	15	82044253	Missense_Mutation	SNP	T	C3N-00175_TP	4929978	82044253	19946936	1061	11211											
ZSCAN2	0	.	GRCh38	chr15	84604213	84604213	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaccagaggtacacaccaagGagcagatgttaaccatgctg	14	6	11	10	0	0	2	0	0	0	2	0	4	0	3	3	2	4	4	3	2	3	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.286G>T	p.Glu96Ter	p.E96*	ENST00000448803	2/3	141	95	46	276	276	0	strelka-varscan-mutect	ZSCAN2,stop_gained,p.Glu96Ter,ENST00000448803,NM_181877.3;ZSCAN2,stop_gained,p.Glu96Ter,ENST00000327179,;ZSCAN2,stop_gained,p.Glu96Ter,ENST00000546148,;ZSCAN2,stop_gained,p.Glu96Ter,ENST00000538076,;ZSCAN2,stop_gained,p.Glu96Ter,ENST00000334141,NM_017894.5;ZSCAN2,stop_gained,p.Glu96Ter,ENST00000541040,;ZSCAN2,stop_gained,p.Glu96Ter,ENST00000485222,;ZSCAN2,stop_gained,p.Glu96Ter,ENST00000379358,NM_001007072.1;ZSCAN2,intron_variant,,ENST00000358472,;ZSCAN2,intron_variant,,ENST00000540936,;ZSCAN2,downstream_gene_variant,,ENST00000502939,;ZSCAN2,downstream_gene_variant,,ENST00000442073,;ZSCAN2,downstream_gene_variant,,ENST00000546275,;RP11-182J1.18,intron_variant,,ENST00000618330,;ZSCAN2,stop_gained,p.Glu96Ter,ENST00000540894,;	T	ENST00000448803	Transcript	stop_gained	578/3813	286/1845	96/614	E/*	Gag/Tag		1		1	ZSCAN2	HGNC	HGNC:20994	protein_coding	YES	CCDS10329.2	ENSP00000410198	Q7Z7L9		UPI000021D4BC	NM_181877.3			2/3		PROSITE_profiles:PS50804,hmmpanther:PTHR24387:SF9,hmmpanther:PTHR24387,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	39	84604213	84604213	G	T	1	0	0	0	0	0	1	0	0	18825	1175	41	2		2	ZSCAN2	15	84604213	Nonsense_Mutation	SNP	G	C3N-00175_TP	2559960	84604213	17386976	1062	11212											
NTRK3	0	.	GRCh38	chr15	88135399	88135399	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccacacgtgggggatcTgtcaagggagaagcctgctg	9	7	14	11	1	3	1	2	0	1	1	3	3	3	2	2	3	2	1	2	3	2	0	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.908-2A>T		p.X303_splice	ENST00000360948		204	153	51	280	280	0	strelka-varscan-mutect	NTRK3,splice_acceptor_variant,,ENST00000394480,NM_002530.3;NTRK3,splice_acceptor_variant,,ENST00000558676,;NTRK3,splice_acceptor_variant,,ENST00000317501,;NTRK3,splice_acceptor_variant,,ENST00000360948,NM_001012338.2;NTRK3,splice_acceptor_variant,,ENST00000357724,;NTRK3,splice_acceptor_variant,,ENST00000355254,NM_001243101.1;NTRK3,splice_acceptor_variant,,ENST00000626019,;NTRK3,splice_acceptor_variant,,ENST00000629765,;NTRK3,splice_acceptor_variant,,ENST00000557856,;NTRK3,splice_acceptor_variant,,ENST00000542733,NM_001320135.1;NTRK3,splice_acceptor_variant,,ENST00000540489,NM_001007156.2;NTRK3,intron_variant,,ENST00000560017,;NTRK3,downstream_gene_variant,,ENST00000559188,;NTRK3,splice_acceptor_variant,,ENST00000559764,;	A	ENST00000360948	Transcript	splice_acceptor_variant	-/3004	908/2520	303/839				1		-1	NTRK3	HGNC	HGNC:8033	protein_coding	YES	CCDS32322.1	ENSP00000354207	Q16288	X5D2R1	UPI000006DC82	NM_001012338.2				9/19																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	39	88135399	88135399	T	A	1	0	0	0	0	0	0	1	0	10774	1594	55	4		4	NTRK3	15	88135399	Splice_Site	SNP	T	C3N-00175_TP	3531186	88135399	13855790	1063	11213											
ANPEP	0	.	GRCh38	chr15	89792451	89792451	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcaggggagacactcaCgggttattattggggttctc	8	10	15	8	2	2	1	1	0	1	1	3	2	2	1	0	6	0	3	0	6	2	4	rs761569899		C3N-00175_TP	C3N-00175_NB	C	C																c.2360+1G>T		p.X787_splice	ENST00000300060		99	73	26	168	168	0	strelka-varscan-mutect	ANPEP,splice_donor_variant,,ENST00000300060,NM_001150.2;ANPEP,splice_donor_variant,,ENST00000558740,;ANPEP,downstream_gene_variant,,ENST00000559761,;	A	ENST00000300060	Transcript	splice_donor_variant	-/3678	2360/2904	787/967			rs761569899	1		-1	ANPEP	HGNC	HGNC:500	protein_coding	YES	CCDS10356.1	ENSP00000300060	P15144	A0A024RC61	UPI00001AECCF	NM_001150.2				17/20																		HIGH	1	SNV	1			1										PASS		rs761569899	.												A	5	1	39	89792451	89792451	C	A	1	0	0	0	0	0	0	1	0	817	550	19	1		1	ANPEP	15	89792451	Splice_Site	SNP	C	C3N-00175_TP	1657052	89792451	12198738	1064	11214											
IQGAP1	0	.	GRCh38	chr15	90491520	90491520	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacccaaagaacaaataccAggaactgatcaacgacattg	18	5	8	10	1	1	2	1	1	0	1	1	5	1	4	2	2	4	0	2	2	6	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.4436A>T	p.Gln1479Leu	p.Q1479L	ENST00000268182	34/38	141	109	32	209	208	1	strelka-varscan-mutect	IQGAP1,missense_variant,p.Gln1479Leu,ENST00000268182,NM_003870.3;IQGAP1,missense_variant,p.Gln907Leu,ENST00000560738,;IQGAP1,3_prime_UTR_variant,,ENST00000633485,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000561461,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000561132,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000559031,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000559674,;IQGAP1,upstream_gene_variant,,ENST00000558957,;IQGAP1,downstream_gene_variant,,ENST00000558491,;	T	ENST00000268182	Transcript	missense_variant	4560/7233	4436/4974	1479/1657	Q/L	cAg/cTg		1		1	IQGAP1	HGNC	HGNC:6110	protein_coding	YES	CCDS10362.1	ENSP00000268182	P46940	A0A024RC65	UPI000012D863	NM_003870.3	deleterious(0.01)		34/38		hmmpanther:PTHR14149:SF15,hmmpanther:PTHR14149,Pfam_domain:PF03836																	MODERATE	1	SNV	1			1										PASS		rs1321297541	.												T	3	4	39	90491520	90491520	A	T	1	0	0	0	0	1	0	0	0	7720	188	7	4		4	IQGAP1	15	90491520	Missense_Mutation	SNP	A	C3N-00175_TP	699069	90491520	11499669	1065	11215											
IFT140	0	.	GRCh38	chr16	1584355	1584355	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaagtgtgacgacatggcCcgctcgctgaggatggccac	8	7	15	11	3	0	2	0	2	0	0	1	5	0	4	2	4	0	2	2	4	1	0	rs761080545		C3N-00175_TP	C3N-00175_NB	C	C																c.1221G>T	p.=	p.R407R	ENST00000426508	11/31	269	211	58	354	354	0	strelka-varscan-mutect	IFT140,synonymous_variant,p.=,ENST00000426508,NM_014714.3;LA16c-395F10.2,intron_variant,,ENST00000563162,;LA16c-425C2.1,upstream_gene_variant,,ENST00000568149,;IFT140,non_coding_transcript_exon_variant,,ENST00000439987,;IFT140,missense_variant,p.Gly132Cys,ENST00000397417,;IFT140,upstream_gene_variant,,ENST00000565298,;	A	ENST00000426508	Transcript	synonymous_variant	1585/5270	1221/4389	407/1462	R	cgG/cgT	rs761080545	1		-1	IFT140	HGNC	HGNC:29077	protein_coding	YES	CCDS10439.1	ENSP00000406012	Q96RY7		UPI0000073C64	NM_014714.3			11/31		hmmpanther:PTHR15722,Superfamily_domains:SSF50978																	LOW		SNV	5			1										PASS		rs761080545	.												A	2	1	39	1584355	1584355	C	A	1	0	0	0	0	0	0	0	1	7460	610	22	2		2	IFT140	16	1584355	Silent	SNP	C	C3N-00175_TP		1584355	88753990	1066	11216											
RPL3L	0	.	GRCh38	chr16	1947042	1947042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaatgcaggccaccttgcGcaggcccttatgggtcttcc	6	9	11	15	1	1	0	0	0	1	0	2	0	2	0	5	3	2	2	5	3	2	3	rs758361406		C3N-00175_TP	C3N-00175_NB	G	G																c.745C>A	p.Arg249Ser	p.R249S	ENST00000268661	6/10	174	138	36	252	252	0	strelka-varscan-mutect	RPL3L,missense_variant,p.Arg249Ser,ENST00000268661,NM_005061.2;MSRB1,upstream_gene_variant,,ENST00000361871,NM_016332.2;MSRB1,upstream_gene_variant,,ENST00000622125,;MSRB1,upstream_gene_variant,,ENST00000399753,;MSRB1,upstream_gene_variant,,ENST00000564908,;MSRB1,upstream_gene_variant,,ENST00000473663,;	T	ENST00000268661	Transcript	missense_variant	840/2182	745/1224	249/407	R/S	Cgc/Agc	rs758361406,COSM346441	1		-1	RPL3L	HGNC	HGNC:10351	protein_coding	YES	CCDS10450.1	ENSP00000268661	Q92901		UPI0000161C28	NM_005061.2	deleterious(0.02)		6/10		hmmpanther:PTHR11363,hmmpanther:PTHR11363:SF7,Pfam_domain:PF00297,Gene3D:2.40.30.10,Superfamily_domains:SSF50447											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs758361406	.												T	3	4	39	1947042	1947042	G	T	1	0	0	0	0	1	0	0	0	13847	1087	38	1		1	RPL3L	16	1947042	Missense_Mutation	SNP	G	C3N-00175_TP	362687	1947042	88391303	1067	11217											
RAB26	0	.	GRCh38	chr16	2153374	2153374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccgcgcttccggctgcatGattacgttaagagggagggt	8	9	15	9	4	0	2	0	1	0	1	1	3	1	3	2	3	3	4	2	3	2	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.724G>A	p.Asp242Asn	p.D242N	ENST00000210187	9/9	183	163	20	204	204	0	strelka-varscan-mutect	RAB26,missense_variant,p.Asp242Asn,ENST00000210187,NM_014353.4;RAB26,missense_variant,p.Asp176Asn,ENST00000541451,NM_001308053.1;RAB26,intron_variant,,ENST00000566724,;TRAF7,upstream_gene_variant,,ENST00000326181,NM_032271.2;TRAF7,upstream_gene_variant,,ENST00000565383,;TRAF7,upstream_gene_variant,,ENST00000567653,;SNHG19,downstream_gene_variant,,ENST00000563192,;SNORD60,downstream_gene_variant,,ENST00000383903,;snoR1,downstream_gene_variant,,ENST00000628177,;RAB26,non_coding_transcript_exon_variant,,ENST00000564426,;RAB26,non_coding_transcript_exon_variant,,ENST00000562735,;RAB26,non_coding_transcript_exon_variant,,ENST00000561600,;RAB26,non_coding_transcript_exon_variant,,ENST00000567145,;TRAF7,upstream_gene_variant,,ENST00000564067,;RAB26,downstream_gene_variant,,ENST00000565592,;TRAF7,upstream_gene_variant,,ENST00000569686,;	A	ENST00000210187	Transcript	missense_variant	884/1675	724/771	242/256	D/N	Gat/Aat		1		1	RAB26	HGNC	HGNC:14259	protein_coding	YES	CCDS10460.1	ENSP00000210187	Q9ULW5		UPI00003584E3	NM_014353.4	deleterious(0.01)		9/9		PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF531,hmmpanther:PTHR24073,Gene3D:3.40.50.300,SMART_domains:SM00176																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	2153374	2153374	G	A	1	0	0	0	0	1	0	0	0	13071	1290	45	3		3	RAB26	16	2153374	Missense_Mutation	SNP	G	C3N-00175_TP	206332	2153374	88184971	1068	11218											
GRIN2A	0	.	GRCh38	chr16	9937958	9937958	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacaacaagccctttcttaCgggtgcaaggtgtgcatcgg	10	9	12	10	2	1	1	0	0	1	1	2	1	1	1	1	3	5	2	1	3	4	2	rs397518465		C3N-00175_TP	C3N-00175_NB	C	C																c.1007+1G>C		p.X336_splice	ENST00000396573		296	239	57	268	268	0	strelka-varscan-mutect	GRIN2A,splice_donor_variant,,ENST00000396573,NM_000833.4;GRIN2A,splice_donor_variant,,ENST00000396575,;GRIN2A,splice_donor_variant,,ENST00000330684,NM_001134407.2;GRIN2A,splice_donor_variant,,ENST00000562109,NM_001134408.2;GRIN2A,splice_donor_variant,,ENST00000535259,;GRIN2A,synonymous_variant,p.=,ENST00000637393,;GRIN2A,splice_donor_variant,,ENST00000636273,;GRIN2A,splice_donor_variant,,ENST00000461292,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000568247,;GRIN2A,intron_variant,,ENST00000566683,;GRIN2A,downstream_gene_variant,,ENST00000566670,;	G	ENST00000396573	Transcript	splice_donor_variant	-/14450	1007/4395	336/1464			rs397518465	1		-1	GRIN2A	HGNC	HGNC:4585	protein_coding	YES	CCDS10539.1	ENSP00000379818	Q12879	Q547U9	UPI000000D7AB	NM_000833.4				4/13											pathogenic							HIGH	1	SNV	1		1	1										PASS		rs397518465	.												G	5	3	39	9937958	9937958	C	G	1	0	0	0	0	0	0	1	0	6661	550	19	4		4	GRIN2A	16	9937958	Splice_Site	SNP	C	C3N-00175_TP	7784584	9937958	80400387	1069	11219											
CLEC16A	0	.	GRCh38	chr16	11120638	11120638	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagcgacttgattgcatgtAcagtgatcaccaaggatggc	12	9	11	9	1	1	2	1	2	0	0	1	4	1	3	1	2	3	2	1	2	2	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2140A>T	p.Thr714Ser	p.T714S	ENST00000409790	20/24	48	31	17	48	48	0	strelka-mutect	CLEC16A,missense_variant,p.Thr714Ser,ENST00000409790,NM_015226.2;CLEC16A,missense_variant,p.Thr696Ser,ENST00000409552,NM_001243403.1;CLEC16A,upstream_gene_variant,,ENST00000261657,;CLEC16A,upstream_gene_variant,,ENST00000428742,;CLEC16A,upstream_gene_variant,,ENST00000436973,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000465491,;	T	ENST00000409790	Transcript	missense_variant	2370/6891	2140/3162	714/1053	T/S	Aca/Tca		1		1	CLEC16A	HGNC	HGNC:29013	protein_coding	YES	CCDS45409.1	ENSP00000387122	Q2KHT3		UPI0000253BAD	NM_015226.2	tolerated(0.11)		20/24		hmmpanther:PTHR21481,hmmpanther:PTHR21481:SF0																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	11120638	11120638	A	T	1	0	0	0	0	1	0	0	0	3266	391	14	4		4	CLEC16A	16	11120638	Missense_Mutation	SNP	A	C3N-00175_TP	1182680	11120638	79217707	1070	11220											
CCP110	0	.	GRCh38	chr16	19536782	19536782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctagtccagagccaagtatGagtcctaaaatgcaccgaag	14	7	9	11	1	0	2	0	1	0	1	2	3	2	2	5	0	2	2	5	0	6	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1113G>A	p.Met371Ile	p.M371I	ENST00000381396	4/15	412	380	32	414	414	0	strelka-varscan-mutect	CCP110,missense_variant,p.Met371Ile,ENST00000396212,NM_001323572.1,NM_001323571.1,NM_014711.4;CCP110,missense_variant,p.Met371Ile,ENST00000381396,NM_001323569.1,NM_001199022.1;CCP110,missense_variant,p.Met371Ile,ENST00000396208,;CCP110,downstream_gene_variant,,ENST00000561888,;CCP110,intron_variant,,ENST00000562083,;	A	ENST00000381396	Transcript	missense_variant	1360/5446	1113/3039	371/1012	M/I	atG/atA		1		1	CCP110	HGNC	HGNC:24342	protein_coding	YES	CCDS55992.1	ENSP00000370803	O43303		UPI0000D619A9	NM_001323569.1,NM_001199022.1	tolerated(0.21)		4/15		hmmpanther:PTHR13594																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	19536782	19536782	G	A	1	0	0	0	0	1	0	0	0	2637	1290	45	3		3	CCP110	16	19536782	Missense_Mutation	SNP	G	C3N-00175_TP	8416144	19536782	70801563	1071	11221											
KNOP1	0	.	GRCh38	chr16	19714359	19714359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagggcttggagtggcctGggagggcatctccctcctgg	4	9	18	10	0	1	0	0	0	1	0	3	3	2	3	3	7	0	2	3	7	0	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.677C>T	p.Pro226Leu	p.P226L	ENST00000219837	2/5	145	130	15	168	168	0	varscan-mutect	KNOP1,missense_variant,p.Pro226Leu,ENST00000219837,NM_001012991.2;KNOP1,missense_variant,p.Pro74Leu,ENST00000567367,;IQCK,upstream_gene_variant,,ENST00000320394,NM_153208.1;KNOP1,upstream_gene_variant,,ENST00000568230,;KNOP1,downstream_gene_variant,,ENST00000564480,;IQCK,upstream_gene_variant,,ENST00000564186,;AC002550.5,intron_variant,,ENST00000565916,;KNOP1,non_coding_transcript_exon_variant,,ENST00000565844,;IQCK,upstream_gene_variant,,ENST00000308214,;IQCK,upstream_gene_variant,,ENST00000568300,;IQCK,upstream_gene_variant,,ENST00000568126,;IQCK,upstream_gene_variant,,ENST00000561839,;IQCK,upstream_gene_variant,,ENST00000564955,;IQCK,upstream_gene_variant,,ENST00000561935,;IQCK,upstream_gene_variant,,ENST00000564515,;IQCK,upstream_gene_variant,,ENST00000566312,;	A	ENST00000219837	Transcript	missense_variant	756/6432	677/1377	226/458	P/L	cCa/cTa		1		-1	KNOP1	HGNC	HGNC:34404	protein_coding	YES	CCDS42127.1	ENSP00000219837	Q1ED39		UPI00001982F5	NM_001012991.2	tolerated(1)		2/5		hmmpanther:PTHR22426																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	19714359	19714359	G	A	1	0	0	0	0	1	0	0	0	8306	1348	47	3		3	KNOP1	16	19714359	Missense_Mutation	SNP	G	C3N-00175_TP	177577	19714359	70623986	1072	11222											
IQCK	0	.	GRCh38	chr16	19827064	19827064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attcaagaactgcgtcagtgGcagaagaaacttcgcgaggc	13	7	12	9	3	2	3	2	0	0	3	3	4	2	3	0	2	3	1	0	2	4	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.729G>T	p.Trp243Cys	p.W243C	ENST00000320394	9/10	237	178	59	247	247	0	strelka-varscan-mutect	IQCK,missense_variant,p.Trp243Cys,ENST00000320394,NM_153208.1;IQCK,missense_variant,p.Trp243Cys,ENST00000564186,;IQCK,missense_variant,p.Ala1Ser,ENST00000568061,;IQCK,non_coding_transcript_exon_variant,,ENST00000562762,;IQCK,3_prime_UTR_variant,,ENST00000308214,;IQCK,3_prime_UTR_variant,,ENST00000561839,;IQCK,3_prime_UTR_variant,,ENST00000564955,;IQCK,3_prime_UTR_variant,,ENST00000561935,;IQCK,non_coding_transcript_exon_variant,,ENST00000568300,;	T	ENST00000320394	Transcript	missense_variant	1428/3482	729/864	243/287	W/C	tgG/tgT		1		1	IQCK	HGNC	HGNC:28556	protein_coding	YES	CCDS10580.1	ENSP00000324901	Q8N0W5		UPI0000072C5C	NM_153208.1	deleterious(0)		9/10		hmmpanther:PTHR34927																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	19827064	19827064	G	T	1	0	0	0	0	1	0	0	0	7719	1212	42	2		2	IQCK	16	19827064	Missense_Mutation	SNP	G	C3N-00175_TP	112705	19827064	70511281	1073	11223											
ACSM2A	0	.	GRCh38	chr16	20469552	20469552	+	Silent	SNP	T	T	A																															accatccagatgaaatccacTgacatactgtataggttgca																								novel		C3N-00175_TP	C3N-00175_NB	T	T																c.429T>A	p.=	p.T143T	ENST00000573854	4/14	154	124	30	158	158	0	strelka-mutect	ACSM2A,synonymous_variant,p.=,ENST00000573854,NM_001308172.1,NM_001010845.2;ACSM2A,synonymous_variant,p.=,ENST00000396104,;ACSM2A,synonymous_variant,p.=,ENST00000575690,;ACSM2A,synonymous_variant,p.=,ENST00000219054,;ACSM2A,synonymous_variant,p.=,ENST00000417235,NM_001308169.1;ACSM2A,downstream_gene_variant,,ENST00000571894,;ACSM2A,downstream_gene_variant,,ENST00000576361,;ACSM2A,downstream_gene_variant,,ENST00000574251,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000575558,;ACSM2A,upstream_gene_variant,,ENST00000572921,;ACSM2A,synonymous_variant,p.=,ENST00000574692,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000570698,;	A	ENST00000573854	Transcript	synonymous_variant	543/2837	429/1734	143/577	T	acT/acA		1		1	ACSM2A	HGNC	HGNC:32017	protein_coding	YES	CCDS32401.1	ENSP00000459451	Q08AH3		UPI0000251E27	NM_001308172.1,NM_001010845.2			4/14		hmmpanther:PTHR24095:SF188,hmmpanther:PTHR24095,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	20469552	20469552	T	A	1	0	0	0	0	0	0	0	1	225	1567	55	4		4	ACSM2A	16	20469552	Silent	SNP	T	C3N-00175_TP	642488	20469552	69868793	1074	11224	256	2									
ACSM2A	0	.	GRCh38	chr16	20469554	20469554	+	Frame_Shift_Del	DEL	A	A	-																															catccagatgaaatccactgAcatactgtataggttgcaga																								novel		C3N-00175_TP	C3N-00175_NB	A	A																c.431delA	p.Asp144AlafsTer34	p.D144Afs*34	ENST00000573854	4/14	138	113	25	162	162	0	sindel-varindel	ACSM2A,frameshift_variant,p.Asp144AlafsTer34,ENST00000573854,NM_001308172.1,NM_001010845.2;ACSM2A,frameshift_variant,p.Asp144AlafsTer34,ENST00000396104,;ACSM2A,frameshift_variant,p.Asp144AlafsTer34,ENST00000575690,;ACSM2A,frameshift_variant,p.Asp144AlafsTer34,ENST00000219054,;ACSM2A,frameshift_variant,p.Asp65AlafsTer34,ENST00000417235,NM_001308169.1;ACSM2A,downstream_gene_variant,,ENST00000571894,;ACSM2A,downstream_gene_variant,,ENST00000576361,;ACSM2A,downstream_gene_variant,,ENST00000574251,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000575558,;ACSM2A,upstream_gene_variant,,ENST00000572921,;ACSM2A,frameshift_variant,p.Asp144AlafsTer34,ENST00000574692,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000570698,;	-	ENST00000573854	Transcript	frameshift_variant	545/2837	431/1734	144/577	D/X	gAc/gc		1		1	ACSM2A	HGNC	HGNC:32017	protein_coding	YES	CCDS32401.1	ENSP00000459451	Q08AH3		UPI0000251E27	NM_001308172.1,NM_001010845.2			4/14		hmmpanther:PTHR24095:SF188,hmmpanther:PTHR24095,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	39	20469554	20469554	A	-	1	0	1	0	1	0	0	0	0	225	275	10	0		0	ACSM2A	16	20469554	Frame_Shift_Del	DEL	A	C3N-00175_TP	2	20469554	69868791	1075	11225	256	2									
ACSM1	0	.	GRCh38	chr16	20685274	20685274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatggtctccctgttgtaGgccacaggtctgtgtgaaga	8	11	13	9	0	2	3	0	1	2	2	3	3	2	3	2	3	0	2	2	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.322C>A	p.Leu108Ile	p.L108I	ENST00000307493	2/13	486	379	107	459	458	1	strelka-varscan-mutect	ACSM1,missense_variant,p.Leu108Ile,ENST00000307493,NM_001318890.1,NM_052956.2;ACSM1,missense_variant,p.Leu108Ile,ENST00000520010,;ACSM1,missense_variant,p.Leu108Ile,ENST00000523065,;ACSM3,intron_variant,,ENST00000561584,;ACSM3,intron_variant,,ENST00000568235,;ACSM3,intron_variant,,ENST00000501740,;ACSM3,downstream_gene_variant,,ENST00000614721,;ACSM1,missense_variant,p.Leu108Ile,ENST00000519745,;	T	ENST00000307493	Transcript	missense_variant	390/2051	322/1734	108/577	L/I	Cta/Ata		1		-1	ACSM1	HGNC	HGNC:18049	protein_coding	YES	CCDS10587.1	ENSP00000301956	Q08AH1		UPI00000558D0	NM_001318890.1,NM_052956.2	tolerated(0.13)		2/13		hmmpanther:PTHR24095:SF150,hmmpanther:PTHR24095,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	20685274	20685274	G	T	1	0	0	0	0	1	0	0	0	224	991	35	2		2	ACSM1	16	20685274	Missense_Mutation	SNP	G	C3N-00175_TP	215720	20685274	69653071	1076	11226											
DNAH3	0	.	GRCh38	chr16	20959219	20959219	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggaacaatcacctcctCacaaatcttctccagggtag	12	9	6	14	0	5	0	3	0	2	0	7	1	6	1	3	2	1	1	3	2	4	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.10786G>T	p.Glu3596Ter	p.E3596*	ENST00000261383	54/62	279	200	79	304	303	1	strelka-varscan-mutect	DNAH3,stop_gained,p.Glu3596Ter,ENST00000261383,NM_017539.2;	A	ENST00000261383	Transcript	stop_gained	10786/12394	10786/12351	3596/4116	E/*	Gag/Tag		1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2			54/62		hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676,Pfam_domain:PF03028																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	20959219	20959219	C	A	1	0	0	0	0	0	1	0	0	4418	835	29	2		2	DNAH3	16	20959219	Nonsense_Mutation	SNP	C	C3N-00175_TP	273945	20959219	69379126	1077	11227											
DNAH3	0	.	GRCh38	chr16	20963976	20963976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgagatacaaaagaagatgGtggcagaatgcacagccact	16	5	11	9	1	0	4	0	0	0	4	0	5	0	4	2	2	3	2	2	2	5	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.9908C>A	p.Thr3303Asn	p.T3303N	ENST00000261383	53/62	176	122	54	224	223	1	strelka-varscan-mutect	DNAH3,missense_variant,p.Thr3303Asn,ENST00000261383,NM_017539.2;	T	ENST00000261383	Transcript	missense_variant	9908/12394	9908/12351	3303/4116	T/N	aCc/aAc		1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2	deleterious(0.03)		53/62		hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	20963976	20963976	G	T	1	0	0	0	0	1	0	0	0	4418	1261	44	2		2	DNAH3	16	20963976	Missense_Mutation	SNP	G	C3N-00175_TP	4757	20963976	69374369	1078	11228											
DNAH3	0	.	GRCh38	chr16	21127770	21127770	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcagaggcaattttccCgctagtatttctgctgttcg	6	14	11	10	2	1	1	0	0	1	1	3	1	2	1	1	2	2	7	1	2	3	6	rs373634011		C3N-00175_TP	C3N-00175_NB	C	C																c.1125G>T	p.=	p.A375A	ENST00000261383	8/62	234	194	40	242	241	1	strelka-varscan-mutect	DNAH3,synonymous_variant,p.=,ENST00000261383,NM_017539.2;CTC-508F8.1,intron_variant,,ENST00000575612,;DNAH3,non_coding_transcript_exon_variant,,ENST00000396036,;	A	ENST00000261383	Transcript	synonymous_variant	1125/12394	1125/12351	375/4116	A	gcG/gcT	rs373634011	1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2			8/62		hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676																	LOW	1	SNV	1			1										PASS		rs373634011	.												A	2	1	39	21127770	21127770	C	A	1	0	0	0	0	0	0	0	1	4418	639	23	1		1	DNAH3	16	21127770	Silent	SNP	C	C3N-00175_TP	163794	21127770	69210575	1079	11229											
OTOA	0	.	GRCh38	chr16	21736320	21736320	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaccctgcccactaaagaAttcctctgggctgtctttca	9	11	8	13	0	3	1	1	0	2	1	4	2	4	2	3	2	1	1	3	2	3	3			C3N-00175_TP	C3N-00175_NB	A	A																c.2361A>T	p.Glu787Asp	p.E787D	ENST00000388958	21/28	484	384	100	456	456	0	strelka-varscan-mutect	OTOA,missense_variant,p.Glu787Asp,ENST00000388958,NM_144672.3;OTOA,missense_variant,p.Glu801Asp,ENST00000286149,;OTOA,missense_variant,p.Glu708Asp,ENST00000388956,NM_001161683.1;OTOA,missense_variant,p.Glu463Asp,ENST00000388957,NM_170664.2;OTOA,non_coding_transcript_exon_variant,,ENST00000563871,;OTOA,non_coding_transcript_exon_variant,,ENST00000563506,;	T	ENST00000388958	Transcript	missense_variant	2362/3610	2361/3420	787/1139	E/D	gaA/gaT	COSM5646666,COSM5646667,COSM5646668	1		1	OTOA	HGNC	HGNC:16378	protein_coding	YES	CCDS10600.2	ENSP00000373610	Q7RTW8		UPI00005C8607	NM_144672.3	tolerated(0.09)		21/28		hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF18											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	39	21736320	21736320	A	T	1	0	0	0	0	1	0	0	0	11368	98	4	4		4	OTOA	16	21736320	Missense_Mutation	SNP	A	C3N-00175_TP	608550	21736320	68602025	1080	11230											
VWA3A	0	.	GRCh38	chr16	22138493	22138493	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctcccaggcccaccgTccccctgggggccagaatgg	5	5	12	19	1	0	1	0	0	0	1	2	1	2	1	7	4	1	0	7	4	1	0	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.2273T>A	p.Val758Asp	p.V758D	ENST00000389398	22/34	189	143	46	164	164	0	strelka-varscan-mutect	VWA3A,missense_variant,p.Val758Asp,ENST00000389398,NM_173615.4;VWA3A,missense_variant,p.Val140Asp,ENST00000563389,;VWA3A,downstream_gene_variant,,ENST00000568328,;VWA3A,missense_variant,p.Val368Asp,ENST00000299840,;VWA3A,downstream_gene_variant,,ENST00000566668,;	A	ENST00000389398	Transcript	missense_variant	2369/4600	2273/3555	758/1184	V/D	gTc/gAc		1		1	VWA3A	HGNC	HGNC:27088	protein_coding	YES	CCDS45441.1	ENSP00000374049	A6NCI4		UPI0001663067	NM_173615.4	deleterious(0.02)		22/34																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	22138493	22138493	T	A	1	0	0	0	0	1	0	0	0	17794	1667	58	4		4	VWA3A	16	22138493	Missense_Mutation	SNP	T	C3N-00175_TP	402173	22138493	68199852	1081	11231											
EEF2K	0	.	GRCh38	chr16	22257679	22257679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcttcttctactctcatgCctgcaaccggatttgcgaga	7	13	8	13	2	4	1	1	0	4	1	5	3	4	2	2	1	5	2	2	1	2	4	rs777214457		C3N-00175_TP	C3N-00175_NB	C	C																c.938C>T	p.Ala313Val	p.A313V	ENST00000263026	9/18	166	134	32	165	165	0	strelka-varscan-mutect	EEF2K,missense_variant,p.Ala313Val,ENST00000263026,NM_013302.3;EEF2K,missense_variant,p.Ala313Val,ENST00000568269,;EEF2K,non_coding_transcript_exon_variant,,ENST00000563555,;	T	ENST00000263026	Transcript	missense_variant	1412/7388	938/2178	313/725	A/V	gCc/gTc	rs777214457	1		1	EEF2K	HGNC	HGNC:24615	protein_coding	YES	CCDS10604.1	ENSP00000263026	O00418		UPI000013D387	NM_013302.3	tolerated(0.8)		9/18		PROSITE_profiles:PS51158,hmmpanther:PTHR14187,Pfam_domain:PF02816,PIRSF_domain:PIRSF038139,SMART_domains:SM00811,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		rs777214457	.												T	3	4	39	22257679	22257679	C	T	1	0	0	0	0	1	0	0	0	4760	739	26	3		3	EEF2K	16	22257679	Missense_Mutation	SNP	C	C3N-00175_TP	119186	22257679	68080666	1082	11232											
HS3ST2	0	.	GRCh38	chr16	22814641	22814641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtcctgggccgcgcggggCcacctcagccgcggagggcg	3	3	20	15	6	1	0	1	0	0	0	2	1	2	1	5	6	1	0	5	6	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.31C>T	p.Pro11Ser	p.P11S	ENST00000261374	1/2	130	94	36	155	155	0	strelka-varscan-mutect	HS3ST2,missense_variant,p.Pro11Ser,ENST00000261374,NM_006043.1;CTC-591M7.1,upstream_gene_variant,,ENST00000636354,;CTC-591M7.1,upstream_gene_variant,,ENST00000636266,;HS3ST2,missense_variant,p.Pro11Ser,ENST00000473392,;	T	ENST00000261374	Transcript	missense_variant	465/2314	31/1104	11/367	P/S	Cca/Tca		1		1	HS3ST2	HGNC	HGNC:5195	protein_coding	YES	CCDS10606.1	ENSP00000261374	Q9Y278		UPI000004C63A	NM_006043.1	deleterious_low_confidence(0.01)		1/2		Low_complexity_(Seg):seg,PROSITE_profiles:PS51257,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	22814641	22814641	C	T	1	0	0	0	0	1	0	0	0	7258	739	26	3		3	HS3ST2	16	22814641	Missense_Mutation	SNP	C	C3N-00175_TP	556962	22814641	67523704	1083	11233											
SCNN1G	0	.	GRCh38	chr16	23186488	23186488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctctggcagtgcgccCtcctcgtcttctccttctat	3	15	6	17	2	5	0	1	0	4	0	9	0	7	0	4	1	1	1	4	1	1	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.217C>T	p.Leu73Phe	p.L73F	ENST00000300061	2/13	439	352	87	509	509	0	strelka-varscan-mutect	SCNN1G,missense_variant,p.Leu73Phe,ENST00000300061,NM_001039.3;	T	ENST00000300061	Transcript	missense_variant	360/3507	217/1950	73/649	L/F	Ctc/Ttc		1		1	SCNN1G	HGNC	HGNC:10602	protein_coding	YES	CCDS10608.1	ENSP00000300061	P51170	A5X2V1	UPI0000070D86	NM_001039.3	deleterious(0.02)		2/13		Transmembrane_helices:TMhelix,hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF19,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	23186488	23186488	C	T	1	0	0	0	0	1	0	0	0	14199	681	24	3		3	SCNN1G	16	23186488	Missense_Mutation	SNP	C	C3N-00175_TP	371847	23186488	67151857	1084	11234											
ERN2	0	.	GRCh38	chr16	23700591	23700591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagggactctgaagcctcttCtggctcctccggctggcccc	4	9	12	16	1	3	1	0	1	3	0	5	3	5	2	5	4	1	2	5	4	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1617G>A	p.=	p.Q539Q	ENST00000634482	13/22	106	85	21	103	103	0	strelka-varscan-mutect	ERN2,synonymous_variant,p.=,ENST00000634482,NM_033266.3;ERN2,synonymous_variant,p.=,ENST00000256797,;ERN2,synonymous_variant,p.=,ENST00000457008,NM_001308220.1;CTD-2196E14.8,upstream_gene_variant,,ENST00000624143,;ERN2,3_prime_UTR_variant,,ENST00000562562,;	T	ENST00000634482	Transcript	synonymous_variant	1786/3616	1617/2925	539/974	Q	caG/caA		1		-1	ERN2	HGNC	HGNC:16942	protein_coding	YES	CCDS32407.1	ENSP00000489461		A0A0U1RRC7	UPI000041A8F8	NM_033266.3			13/22		hmmpanther:PTHR13954,hmmpanther:PTHR13954:SF15,Gene3D:3.30.200.20																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	23700591	23700591	C	T	1	0	0	0	0	0	0	0	1	5096	912	32	3		3	ERN2	16	23700591	Silent	SNP	C	C3N-00175_TP	514103	23700591	66637754	1085	11235											
ERN2	0	.	GRCh38	chr16	23701099	23701099	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcccaaagtttctctcGgctcaggctcaatagctggg	8	10	12	11	1	3	0	2	0	1	0	6	1	4	1	1	4	1	4	1	4	3	2	rs200049259		C3N-00175_TP	C3N-00175_NB	G	G																c.1363C>A	p.=	p.R455R	ENST00000634482	12/22	100	70	30	101	101	0	strelka-varscan-mutect	ERN2,synonymous_variant,p.=,ENST00000634482,NM_033266.3;ERN2,synonymous_variant,p.=,ENST00000256797,;ERN2,intron_variant,,ENST00000457008,NM_001308220.1;CTD-2196E14.8,upstream_gene_variant,,ENST00000624143,;ERN2,3_prime_UTR_variant,,ENST00000562562,;	T	ENST00000634482	Transcript	synonymous_variant	1532/3616	1363/2925	455/974	R	Cga/Aga	rs200049259	1		-1	ERN2	HGNC	HGNC:16942	protein_coding	YES	CCDS32407.1	ENSP00000489461		A0A0U1RRC7	UPI000041A8F8	NM_033266.3			12/22		hmmpanther:PTHR13954,hmmpanther:PTHR13954:SF15																	LOW	1	SNV	1			1										PASS		rs200049259	.												T	2	4	39	23701099	23701099	G	T	1	0	0	0	0	0	0	0	1	5096	1124	39	1		1	ERN2	16	23701099	Silent	SNP	G	C3N-00175_TP	508	23701099	66637246	1086	11236											
ITGAL	0	.	GRCh38	chr16	30496506	30496506	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catccatggggtgaaggaccTtgaaggggatggcttggcag	9	8	17	7	0	0	2	0	2	0	0	1	4	1	4	2	7	0	2	2	7	2	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1772T>A	p.Leu591His	p.L591H	ENST00000356798	15/31	177	131	46	181	181	0	strelka-varscan-mutect	ITGAL,missense_variant,p.Leu591His,ENST00000356798,NM_002209.2;ITGAL,missense_variant,p.Leu508His,ENST00000358164,NM_001114380.1;ITGAL,intron_variant,,ENST00000433423,;RP11-297C4.1,downstream_gene_variant,,ENST00000563751,;ITGAL,downstream_gene_variant,,ENST00000568012,;ITGAL,non_coding_transcript_exon_variant,,ENST00000568987,;ITGAL,intron_variant,,ENST00000568926,;ITGAL,downstream_gene_variant,,ENST00000564935,;ITGAL,upstream_gene_variant,,ENST00000563615,;	A	ENST00000356798	Transcript	missense_variant	1952/5213	1772/3513	591/1170	L/H	cTt/cAt		1		1	ITGAL	HGNC	HGNC:6148	protein_coding	YES	CCDS32433.1	ENSP00000349252	P20701		UPI000013C4FF	NM_002209.2	deleterious(0)		15/31		Gene3D:3nigC00,Prints_domain:PR01185,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF84,SMART_domains:SM00191,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	30496506	30496506	T	A	1	0	0	0	0	1	0	0	0	7793	1609	56	4		4	ITGAL	16	30496506	Missense_Mutation	SNP	T	C3N-00175_TP	6795407	30496506	59841839	1087	11237											
ITGAL	0	.	GRCh38	chr16	30499078	30499078	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgccctgcagctccCggcccgtggtggatatggtc	3	10	13	15	2	1	0	0	0	1	0	3	1	2	1	4	4	3	2	4	4	1	2			C3N-00175_TP	C3N-00175_NB	C	C																c.1837C>A	p.=	p.R613R	ENST00000356798	16/31	89	57	32	115	115	0	strelka-varscan-mutect	ITGAL,synonymous_variant,p.=,ENST00000356798,NM_002209.2;ITGAL,synonymous_variant,p.=,ENST00000358164,NM_001114380.1;ITGAL,intron_variant,,ENST00000433423,;MIR4518,upstream_gene_variant,,ENST00000580665,;RP11-297C4.1,non_coding_transcript_exon_variant,,ENST00000563751,;ITGAL,downstream_gene_variant,,ENST00000568012,;ITGAL,intron_variant,,ENST00000568926,;ITGAL,intron_variant,,ENST00000568987,;ITGAL,downstream_gene_variant,,ENST00000564935,;ITGAL,upstream_gene_variant,,ENST00000563615,;	A	ENST00000356798	Transcript	synonymous_variant	2017/5213	1837/3513	613/1170	R	Cgg/Agg	COSM240256	1		1	ITGAL	HGNC	HGNC:6148	protein_coding	YES	CCDS32433.1	ENSP00000349252	P20701		UPI000013C4FF	NM_002209.2			16/31		Gene3D:3nigC00,Pfam_domain:PF08441,Prints_domain:PR01185,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF84,SMART_domains:SM00191,Superfamily_domains:SSF69318											1						LOW	1	SNV	1		1	1										PASS		rs1428037729	.												A	2	1	39	30499078	30499078	C	A	1	0	0	0	0	0	0	0	1	7793	666	23	1		1	ITGAL	16	30499078	Silent	SNP	C	C3N-00175_TP	2572	30499078	59839267	1088	11238											
ITGAX	0	.	GRCh38	chr16	31371147	31371147	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaggcactgagcgggggtCaagacctcacccaggatgga	10	4	16	11	1	2	2	2	1	0	1	2	4	2	4	2	6	1	2	2	6	1	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1774C>G	p.Gln592Glu	p.Q592E	ENST00000562522	15/31	110	84	26	121	121	0	strelka-varscan-mutect	ITGAX,missense_variant,p.Gln592Glu,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Gln592Glu,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,upstream_gene_variant,,ENST00000562138,;	G	ENST00000562522	Transcript	missense_variant	1807/3990	1774/3510	592/1169	Q/E	Caa/Gaa		1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	deleterious(0.01)		15/31		Gene3D:3nigC00,Prints_domain:PR01185,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,SMART_domains:SM00191,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	31371147	31371147	C	G	1	0	0	0	0	1	0	0	0	7796	827	29	4		4	ITGAX	16	31371147	Missense_Mutation	SNP	C	C3N-00175_TP	872069	31371147	58967198	1089	11239											
ITGAX	0	.	GRCh38	chr16	31377265	31377265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctacactgtggttagcaGgtcagcaggtaccccactgc	8	10	11	12	0	2	0	1	0	1	0	2	0	2	0	2	3	5	4	2	3	3	3			C3N-00175_TP	C3N-00175_NB	G	G																c.2789G>T	p.Ser930Ile	p.S930I	ENST00000562522	23/31	141	105	36	129	128	1	strelka-varscan-mutect	ITGAX,missense_variant,p.Ser930Ile,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Ser930Ile,ENST00000562522,NM_001286375.1;ITGAX,splice_region_variant,,ENST00000571644,;ITGAX,downstream_gene_variant,,ENST00000562138,;	T	ENST00000562522	Transcript	missense_variant,splice_region_variant	2822/3990	2789/3510	930/1169	S/I	aGc/aTc	COSM703156	1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	deleterious(0.01)		23/31		Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	39	31377265	31377265	G	T	1	0	0	0	0	1	0	0	0	7796	1014	35	2		2	ITGAX	16	31377265	Missense_Mutation	SNP	G	C3N-00175_TP	6118	31377265	58961080	1090	11240											
SHCBP1	0	.	GRCh38	chr16	46621332	46621332	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggccgctgcctccagacCgccgcccgtcagcgacccgt	5	5	11	20	6	1	1	1	0	0	1	2	2	2	1	7	1	2	1	7	1	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.28G>T	p.Gly10Cys	p.G10C	ENST00000303383	1/13	124	101	23	148	148	0	strelka-varscan-mutect	SHCBP1,missense_variant,p.Gly10Cys,ENST00000303383,NM_024745.4;RP11-46D6.1,downstream_gene_variant,,ENST00000574180,;RP11-46D6.1,downstream_gene_variant,,ENST00000562549,;SHCBP1,non_coding_transcript_exon_variant,,ENST00000564272,;SHCBP1,non_coding_transcript_exon_variant,,ENST00000566016,;	A	ENST00000303383	Transcript	missense_variant	295/3461	28/2019	10/672	G/C	Ggt/Tgt		1		-1	SHCBP1	HGNC	HGNC:29547	protein_coding	YES	CCDS10720.1	ENSP00000306473	Q8NEM2		UPI000013E898	NM_024745.4	deleterious_low_confidence(0.04)		1/13		hmmpanther:PTHR14695:SF8,hmmpanther:PTHR14695																	MODERATE	1	SNV	1			1										PASS		rs1363863229	.												A	3	1	39	46621332	46621332	C	A	1	0	0	0	0	1	0	0	0	14533	652	23	1		1	SHCBP1	16	46621332	Missense_Mutation	SNP	C	C3N-00175_TP	15244067	46621332	43717013	1091	11241											
ABCC11	0	.	GRCh38	chr16	48196245	48196245	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accgtacctccagctgcctgGatgtagtggtggtagaccct	7	10	12	12	1	0	1	0	0	0	1	1	2	1	2	5	3	3	4	5	3	3	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2391C>A	p.=	p.I797I	ENST00000394747	17/29	213	142	71	174	174	0	strelka-varscan-mutect	ABCC11,synonymous_variant,p.=,ENST00000394747,NM_033151.3;ABCC11,synonymous_variant,p.=,ENST00000356608,;ABCC11,synonymous_variant,p.=,ENST00000394748,NM_032583.3;ABCC11,synonymous_variant,p.=,ENST00000353782,NM_145186.2;ABCC11,non_coding_transcript_exon_variant,,ENST00000569172,;	T	ENST00000394747	Transcript	synonymous_variant	2741/4862	2391/4149	797/1382	I	atC/atA		1		-1	ABCC11	HGNC	HGNC:14639	protein_coding	YES	CCDS10732.1	ENSP00000378230	Q96J66	A0A024R6Q6	UPI0000052711	NM_033151.3			17/29		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF168																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	48196245	48196245	G	T	1	0	0	0	0	0	0	0	1	55	1164	41	2		2	ABCC11	16	48196245	Silent	SNP	G	C3N-00175_TP	1574913	48196245	42142100	1092	11242											
ZNF423	0	.	GRCh38	chr16	49523645	49523645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctcggtctggaagaaGaacttctgagggcactgtga	10	9	14	8	1	2	4	0	2	2	2	3	5	2	5	0	3	3	3	0	3	3	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.3804C>A	p.Phe1268Leu	p.F1268L	ENST00000561648	8/9	209	151	58	205	204	1	strelka-varscan-mutect	ZNF423,missense_variant,p.Phe1268Leu,ENST00000561648,;ZNF423,missense_variant,p.Phe1208Leu,ENST00000563137,;ZNF423,missense_variant,p.Phe1268Leu,ENST00000262383,NM_015069.3;ZNF423,missense_variant,p.Phe1208Leu,ENST00000562871,;ZNF423,missense_variant,p.Phe1151Leu,ENST00000535559,;ZNF423,missense_variant,p.Phe1208Leu,ENST00000562520,NM_001271620.1;ZNF423,missense_variant,p.Phe1151Leu,ENST00000567169,;	T	ENST00000561648	Transcript	missense_variant	4105/7907	3804/3855	1268/1284	F/L	ttC/ttA		1		-1	ZNF423	HGNC	HGNC:16762	protein_coding	YES	CCDS32445.1	ENSP00000455426	Q2M1K9		UPI0000353ABC		deleterious(0)		8/9		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	49523645	49523645	G	T	1	0	0	0	0	1	0	0	0	18470	933	33	2		2	ZNF423	16	49523645	Missense_Mutation	SNP	G	C3N-00175_TP	1327400	49523645	40814700	1093	11243											
ADCY7	0	.	GRCh38	chr16	50291795	50291795	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctactgcccttcagcatgcgGggcgctgtcgccgttggggc	3	9	15	14	4	1	0	1	0	0	0	2	0	1	0	2	4	4	3	2	4	1	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.435G>T	p.=	p.R145R	ENST00000394697	4/26	254	183	71	326	326	0	strelka-varscan-mutect	ADCY7,synonymous_variant,p.=,ENST00000394697,;ADCY7,synonymous_variant,p.=,ENST00000254235,NM_001114.4;ADCY7,synonymous_variant,p.=,ENST00000566433,NM_001286057.1;ADCY7,synonymous_variant,p.=,ENST00000537579,;ADCY7,downstream_gene_variant,,ENST00000566761,;ADCY7,downstream_gene_variant,,ENST00000564965,;ADCY7,downstream_gene_variant,,ENST00000569265,;MIR6771,upstream_gene_variant,,ENST00000619793,;ADCY7,intron_variant,,ENST00000564044,;ADCY7,intron_variant,,ENST00000563677,;ADCY7,downstream_gene_variant,,ENST00000562623,;ADCY7,downstream_gene_variant,,ENST00000568933,;ADCY7,synonymous_variant,p.=,ENST00000567277,;	T	ENST00000394697	Transcript	synonymous_variant	775/6213	435/3243	145/1080	R	cgG/cgT		1		1	ADCY7	HGNC	HGNC:238	protein_coding	YES	CCDS10741.1	ENSP00000378187	P51828		UPI000004C5DB				4/26		hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF273,Pfam_domain:PF16214,PIRSF_domain:PIRSF039050																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	39	50291795	50291795	G	T	1	0	0	0	0	0	0	0	1	343	1219	43	2		2	ADCY7	16	50291795	Silent	SNP	G	C3N-00175_TP	768150	50291795	40046550	1094	11244											
NKD1	0	.	GRCh38	chr16	50625568	50625568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactttgacaacaacggcaaGgtcacccgagaggtgagtgc	12	6	13	10	2	1	3	1	2	0	1	1	5	1	3	1	3	3	1	1	3	3	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.450G>T	p.Lys150Asn	p.K150N	ENST00000268459	6/10	223	177	46	283	283	0	strelka-varscan-mutect	NKD1,missense_variant,p.Lys150Asn,ENST00000268459,NM_033119.4;NKD1,non_coding_transcript_exon_variant,,ENST00000566396,;	T	ENST00000268459	Transcript	missense_variant	674/17105	450/1413	150/470	K/N	aaG/aaT		1		1	NKD1	HGNC	HGNC:17045	protein_coding	YES	CCDS10743.1	ENSP00000268459	Q969G9		UPI0000073F02	NM_033119.4	deleterious(0)		6/10		PROSITE_profiles:PS50222,hmmpanther:PTHR22611:SF2,hmmpanther:PTHR22611,PROSITE_patterns:PS00018,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	50625568	50625568	G	T	1	0	0	0	0	1	0	0	0	10476	991	35	2		2	NKD1	16	50625568	Missense_Mutation	SNP	G	C3N-00175_TP	333773	50625568	39712777	1095	11245											
MMP2	0	.	GRCh38	chr16	55491945	55491945	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacatcaagggcattcAggagctctatggtaaacctc	12	9	11	9	0	3	1	2	1	1	0	4	3	3	3	1	4	2	3	1	4	4	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1325A>T	p.Gln442Leu	p.Q442L	ENST00000219070	8/13	239	196	43	219	219	0	strelka-varscan-mutect	MMP2,missense_variant,p.Gln442Leu,ENST00000219070,NM_004530.5;MMP2,missense_variant,p.Gln366Leu,ENST00000570308,;MMP2,missense_variant,p.Gln392Leu,ENST00000437642,NM_001127891.2;MMP2,missense_variant,p.Gln366Leu,ENST00000543485,NM_001302508.1,NM_001302510.1,NM_001302509.1;MMP2,missense_variant,p.Gln67Leu,ENST00000570283,;RP11-212I21.3,downstream_gene_variant,,ENST00000623886,;	T	ENST00000219070	Transcript	missense_variant	1834/3741	1325/1983	442/660	Q/L	cAg/cTg		1		1	MMP2	HGNC	HGNC:7166	protein_coding	YES	CCDS10752.1	ENSP00000219070	P08253	A0A024R6R4	UPI00000422C4	NM_004530.5	deleterious(0)		8/13		Gene3D:3.40.390.10,Pfam_domain:PF00413,Prints_domain:PR00138,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF29,SMART_domains:SM00235,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		rs1412312873	.												T	3	4	39	55491945	55491945	A	T	1	0	0	0	0	1	0	0	0	9621	188	7	4		4	MMP2	16	55491945	Missense_Mutation	SNP	A	C3N-00175_TP	4866377	55491945	34846400	1096	11246											
SLC6A2	0	.	GRCh38	chr16	55700287	55700287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctataagttcctcagcaCgcagggctctctttgggagg	8	11	11	11	1	3	0	1	0	2	0	5	1	4	1	1	3	1	4	1	3	2	4	rs148686754		C3N-00175_TP	C3N-00175_NB	C	C																c.1739C>T	p.Thr580Met	p.T580M	ENST00000219833	12/14	120	107	13	144	144	0	strelka-varscan-mutect	SLC6A2,missense_variant,p.Thr580Met,ENST00000379906,NM_001043.3;SLC6A2,missense_variant,p.Thr475Met,ENST00000567238,NM_001172502.1;SLC6A2,missense_variant,p.Thr580Met,ENST00000219833,NM_001172504.1;SLC6A2,missense_variant,p.Thr580Met,ENST00000568943,NM_001172501.1;SLC6A2,missense_variant,p.Thr580Met,ENST00000561820,;SLC6A2,missense_variant,p.Thr535Met,ENST00000566163,;SLC6A2,synonymous_variant,p.=,ENST00000574918,;SLC6A2,intron_variant,,ENST00000414754,;RP11-481F24.3,upstream_gene_variant,,ENST00000624017,;	T	ENST00000219833	Transcript	missense_variant	1790/2858	1739/1887	580/628	T/M	aCg/aTg	rs148686754,COSM323447,COSM323448,COSM336061,COSM336062	1		1	SLC6A2	HGNC	HGNC:11048	protein_coding	YES	CCDS54011.1	ENSP00000219833	P23975		UPI00000734FD	NM_001172504.1	tolerated(0.13)		12/14		PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF37											0,1,1,1,1						MODERATE	1	SNV	5		0,1,1,1,1	1										PASS		rs148686754	.												T	3	4	39	55700287	55700287	C	T	1	0	0	0	0	1	0	0	0	14966	536	19	1		1	SLC6A2	16	55700287	Missense_Mutation	SNP	C	C3N-00175_TP	208342	55700287	34638058	1097	11247											
NLRC5	0	.	GRCh38	chr16	57037247	57037247	+	Frame_Shift_Del	DEL	G	G	-																															tgcattgtgtgctgagggccGtgagtgcgtgctggaccctg																								rs779817822		C3N-00175_TP	C3N-00175_NB	G	G																c.2764delG	p.Val922Ter	p.V922*	ENST00000262510	15/49	269	224	45	322	322	0	sindel-varindel-pindel	NLRC5,frameshift_variant,p.Val922Ter,ENST00000262510,;NLRC5,frameshift_variant,p.Val922Ter,ENST00000436936,NM_032206.4;NLRC5,frameshift_variant,p.Val922Ter,ENST00000539144,;NLRC5,frameshift_variant,p.Val675Ter,ENST00000538805,;NLRC5,frameshift_variant,p.Val429Ter,ENST00000538110,;NLRC5,frameshift_variant,p.Val221Ter,ENST00000543030,;NLRC5,frameshift_variant,p.Val650Ter,ENST00000545081,;NLRC5,frameshift_variant,p.Val73Ter,ENST00000538453,;NLRC5,3_prime_UTR_variant,,ENST00000539881,;NLRC5,upstream_gene_variant,,ENST00000540182,;NLRC5,upstream_gene_variant,,ENST00000538930,;NLRC5,upstream_gene_variant,,ENST00000538778,;NLRC5,upstream_gene_variant,,ENST00000541020,;	-	ENST00000262510	Transcript	frameshift_variant	2989/6822	2764/5601	922/1866	V/X	Gtg/tg	rs779817822	1		1	NLRC5	HGNC	HGNC:29933	protein_coding	YES	CCDS10773.1	ENSP00000262510	Q86WI3		UPI00001AEE94				15/49		Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	39	57037247	57037247	G	-	1	0	1	0	1	0	0	0	0	10507	1145	40	0		0	NLRC5	16	57037247	Frame_Shift_Del	DEL	G	C3N-00175_TP	1336960	57037247	33301098	1098	11248											
CCDC102A	0	.	GRCh38	chr16	57525923	57525923	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctccttgagcagcacctTctgggactcatccagccgta	7	10	9	15	2	2	1	1	1	1	0	5	2	4	2	4	1	3	4	4	1	1	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.790A>T	p.Lys264Ter	p.K264*	ENST00000258214	3/9	165	122	43	201	201	0	strelka-varscan-mutect	CCDC102A,stop_gained,p.Lys264Ter,ENST00000258214,NM_033212.3;	A	ENST00000258214	Transcript	stop_gained	1037/2463	790/1653	264/550	K/*	Aag/Tag		1		-1	CCDC102A	HGNC	HGNC:28097	protein_coding	YES	CCDS10784.1	ENSP00000258214	Q96A19		UPI000013CFBA	NM_033212.3			3/9		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF479																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	57525923	57525923	T	A	1	0	0	0	0	0	1	0	0	2434	1792	62	4		4	CCDC102A	16	57525923	Nonsense_Mutation	SNP	T	C3N-00175_TP	488676	57525923	32812422	1099	11249											
RP11-457D20.2	0	.	GRCh38	chr16	60358557	60358557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctacttagcaccctcatGttcttatgcatgttgccctg	6	16	7	12	0	3	0	1	0	2	0	3	0	3	0	2	0	4	5	2	0	3	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.924C>A	p.Asn308Lys	p.N308K	ENST00000614215	1/1	96	78	18	95	94	1	strelka-varscan-mutect	RP11-457D20.2,missense_variant,p.Asn308Lys,ENST00000614215,NM_001282301.1;RP11-354I13.2,upstream_gene_variant,,ENST00000565506,;RP11-354I13.2,upstream_gene_variant,,ENST00000565133,;RP11-457D20.1,downstream_gene_variant,,ENST00000563482,;	T	ENST00000614215	Transcript	missense_variant	924/1026	924/1026	308/341	N/K	aaC/aaA		1		-1	RP11-457D20.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000482925	A8MU76		UPI00017616FE	NM_001282301.1	tolerated_low_confidence(0.09)		1/1		hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF76																	MODERATE		SNV				1										PASS		.	.												T	3	4	39	60358557	60358557	G	T	1	0	0	0	0	1	0	0	0	13744	1368	48	2		2	RP11-457D20.2	16	60358557	Missense_Mutation	SNP	G	C3N-00175_TP	2832634	60358557	29979788	1100	11250											
CDH8	0	.	GRCh38	chr16	61654094	61654094	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagagttacaaacagcacCacgatgactagaggaaaaat	18	6	9	8	2	0	3	0	1	0	2	0	5	0	4	1	1	3	3	1	1	6	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1914G>T	p.=	p.V638V	ENST00000577390	12/12	71	43	28	86	86	0	strelka-varscan-mutect	CDH8,synonymous_variant,p.=,ENST00000577390,NM_001796.4;CDH8,synonymous_variant,p.=,ENST00000577730,;CDH8,synonymous_variant,p.=,ENST00000299345,;CDH8,downstream_gene_variant,,ENST00000583483,;CDH8,3_prime_UTR_variant,,ENST00000585315,;	A	ENST00000577390	Transcript	synonymous_variant	2869/9721	1914/2400	638/799	V	gtG/gtT		1		-1	CDH8	HGNC	HGNC:1767	protein_coding	YES	CCDS10802.1	ENSP00000462701	P55286		UPI0000126D9F	NM_001796.4			12/12		Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF273,hmmpanther:PTHR24027,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs1262284212	.												A	2	1	39	61654094	61654094	C	A	1	0	0	0	0	0	0	0	1	2819	581	21	2		2	CDH8	16	61654094	Silent	SNP	C	C3N-00175_TP	1295537	61654094	28684251	1101	11251											
RRAD	0	.	GRCh38	chr16	66923688	66923688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acataggcatcccccatggcCatgcagtggccgggcaacca	10	5	11	15	1	0	0	0	0	0	0	1	0	1	0	5	4	2	3	5	4	2	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.477G>T	p.Met159Ile	p.M159I	ENST00000299759	4/5	157	118	39	251	251	0	strelka-varscan-mutect	RRAD,missense_variant,p.Met159Ile,ENST00000299759,;RRAD,missense_variant,p.Met159Ile,ENST00000420652,NM_004165.2,NM_001128850.1;RRAD,missense_variant,p.Met84Ile,ENST00000566577,;RRAD,intron_variant,,ENST00000568915,;CDH16,upstream_gene_variant,,ENST00000299752,NM_004062.3;CDH16,upstream_gene_variant,,ENST00000394055,NM_001204744.1;CDH16,upstream_gene_variant,,ENST00000565796,NM_001204745.1;CDH16,upstream_gene_variant,,ENST00000570262,;CDH16,upstream_gene_variant,,ENST00000568632,NM_001204746.1;CDH16,upstream_gene_variant,,ENST00000565235,;RRAD,non_coding_transcript_exon_variant,,ENST00000567791,;CDH16,upstream_gene_variant,,ENST00000567269,;CDH16,upstream_gene_variant,,ENST00000568698,;	A	ENST00000299759	Transcript	missense_variant	728/1569	477/927	159/308	M/I	atG/atT		1		-1	RRAD	HGNC	HGNC:10446	protein_coding	YES	CCDS10824.1	ENSP00000299759	P55042	A0A024R6X0	UPI0000072F9C		deleterious(0.04)		4/5		PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF74,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,PIRSF_domain:PIRSF038017,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	66923688	66923688	C	A	1	0	0	0	0	1	0	0	0	13925	594	21	2		2	RRAD	16	66923688	Missense_Mutation	SNP	C	C3N-00175_TP	5269594	66923688	23414657	1102	11252											
CARMIL2	0	.	GRCh38	chr16	67646965	67646965	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagacttcagccacctCggcagtcggtgtgtggcctg	5	9	15	12	2	1	1	1	0	0	1	3	2	1	1	3	4	1	1	3	4	0	1	rs761787480		C3N-00175_TP	C3N-00175_NB	C	C																c.603C>A	p.=	p.L201L	ENST00000334583	8/38	135	94	41	228	228	0	strelka-varscan-mutect	CARMIL2,synonymous_variant,p.=,ENST00000334583,NM_001013838.1;CARMIL2,synonymous_variant,p.=,ENST00000545661,NM_001317026.1;CARMIL2,3_prime_UTR_variant,,ENST00000602563,;CARMIL2,upstream_gene_variant,,ENST00000602321,;CARMIL2,upstream_gene_variant,,ENST00000602562,;CARMIL2,upstream_gene_variant,,ENST00000602633,;CARMIL2,upstream_gene_variant,,ENST00000602742,;CARMIL2,upstream_gene_variant,,ENST00000602931,;CARMIL2,downstream_gene_variant,,ENST00000602467,;	A	ENST00000334583	Transcript	synonymous_variant	931/4687	603/4308	201/1435	L	ctC/ctA	rs761787480	1		1	CARMIL2	HGNC	HGNC:27089	protein_coding	YES	CCDS45513.1	ENSP00000334958	Q6F5E8		UPI00005194F2	NM_001013838.1			8/38		hmmpanther:PTHR24112:SF32,hmmpanther:PTHR24112,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	LOW	1	SNV	1			1										PASS		rs761787480	.												A	2	1	39	67646965	67646965	C	A	1	0	0	0	0	0	0	0	1	2352	871	31	1		1	CARMIL2	16	67646965	Silent	SNP	C	C3N-00175_TP	723277	67646965	22691380	1103	11253											
GFOD2	0	.	GRCh38	chr16	67685691	67685691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgccagtcccaaacaCgcccactcctggcagcatct	9	6	9	17	1	1	0	0	0	1	0	3	1	3	1	4	2	4	3	4	2	1	0	rs371418821		C3N-00175_TP	C3N-00175_NB	C	C																c.25G>T	p.Val9Leu	p.V9L	ENST00000268797	2/3	71	48	23	92	92	0	strelka-varscan-mutect	GFOD2,missense_variant,p.Val9Leu,ENST00000602279,NM_001243650.1;GFOD2,missense_variant,p.Val9Leu,ENST00000268797,NM_030819.3;GFOD2,missense_variant,p.Val9Leu,ENST00000602377,;GFOD2,missense_variant,p.Val9Leu,ENST00000602855,;GFOD2,upstream_gene_variant,,ENST00000602627,;GFOD2,missense_variant,p.Val9Leu,ENST00000602496,;	A	ENST00000268797	Transcript	missense_variant	371/2126	25/1158	9/385	V/L	Gtg/Ttg	rs371418821	1		-1	GFOD2	HGNC	HGNC:28159	protein_coding	YES	CCDS10845.1	ENSP00000268797	Q3B7J2		UPI000013D7DD	NM_030819.3	tolerated(0.11)		2/3		Gene3D:3.40.50.720,Pfam_domain:PF01408,hmmpanther:PTHR22604,hmmpanther:PTHR22604:SF90,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		rs371418821	.												A	3	1	39	67685691	67685691	C	A	1	0	0	0	0	1	0	0	0	6218	536	19	1		1	GFOD2	16	67685691	Missense_Mutation	SNP	C	C3N-00175_TP	38726	67685691	22652654	1104	11254											
CLEC18B	0	.	GRCh38	chr16	74411674	74411674	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgactgtcacctgacAtttcatcctggctctgtaat	8	13	10	10	0	3	2	2	2	1	0	4	2	4	2	2	3	0	2	2	3	1	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.979T>A	p.Cys327Ser	p.C327S	ENST00000339953	8/13	197	181	16	301	301	0	varscan-mutect	CLEC18B,missense_variant,p.Cys327Ser,ENST00000617101,;CLEC18B,missense_variant,p.Cys327Ser,ENST00000619275,;CLEC18B,missense_variant,p.Cys327Ser,ENST00000339953,NM_001011880.2;CLEC18B,3_prime_UTR_variant,,ENST00000620745,;CLEC18B,non_coding_transcript_exon_variant,,ENST00000564842,;CLEC18B,downstream_gene_variant,,ENST00000425714,;	T	ENST00000339953	Transcript	missense_variant	1101/1865	979/1368	327/455	C/S	Tgt/Agt		1		-1	CLEC18B	HGNC	HGNC:33849	protein_coding	YES	CCDS32484.1	ENSP00000341051	Q6UXF7		UPI000025210E	NM_001011880.2	deleterious_low_confidence(0)		8/13		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		rs745609847	.												T	3	4	39	74411674	74411674	A	T	1	0	0	0	0	1	0	0	0	3269	231	8	4		4	CLEC18B	16	74411674	Missense_Mutation	SNP	A	C3N-00175_TP	6725983	74411674	15926671	1105	11255											
GABARAPL2	0	.	GRCh38	chr16	75568135	75568135	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggctcagttcatgtggatCatcaggaaaaggatccagct	11	10	12	8	0	4	0	4	0	0	0	5	3	5	3	1	4	1	3	1	4	2	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.189C>G	p.Ile63Met	p.I63M	ENST00000037243	3/4	196	179	17	216	216	0	strelka-varscan-mutect	GABARAPL2,missense_variant,p.Ile63Met,ENST00000037243,NM_007285.6;GABARAPL2,missense_variant,p.Ile3Met,ENST00000568455,;GABARAPL2,missense_variant,p.Ile63Met,ENST00000565057,;GABARAPL2,intron_variant,,ENST00000563744,;RP11-490B18.6,downstream_gene_variant,,ENST00000611726,;RP11-77K12.8,intron_variant,,ENST00000564489,;	G	ENST00000037243	Transcript	missense_variant	325/1002	189/354	63/117	I/M	atC/atG		1		1	GABARAPL2	HGNC	HGNC:13291	protein_coding	YES	CCDS10921.1	ENSP00000037243	P60520		UPI0000023921	NM_007285.6	deleterious(0.03)		3/4		Gene3D:3.10.20.90,Pfam_domain:PF02991,hmmpanther:PTHR10969,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	75568135	75568135	C	G	1	0	0	0	0	1	0	0	0	6025	816	29	4		4	GABARAPL2	16	75568135	Missense_Mutation	SNP	C	C3N-00175_TP	1156461	75568135	14770210	1106	11256											
CNTNAP4	0	.	GRCh38	chr16	76448860	76448861	+	Frame_Shift_Ins	INS	-	-	T																															cattcagtgctcatccagcgINStttgggcaaacaagtcaact																								novel		C3N-00175_TP	C3N-00175_NB	-	-																c.839dupT	p.Leu280PhefsTer28	p.L280Ffs*28	ENST00000611870	6/24	179	130	49	249	249	0	sindel-varindel-pindel	CNTNAP4,frameshift_variant,p.Leu280PhefsTer28,ENST00000307431,;CNTNAP4,frameshift_variant,p.Leu280PhefsTer28,ENST00000611870,NM_033401.3;CNTNAP4,frameshift_variant,p.Leu280PhefsTer28,ENST00000377504,;CNTNAP4,frameshift_variant,p.Leu283PhefsTer28,ENST00000476707,;CNTNAP4,frameshift_variant,p.Leu280PhefsTer28,ENST00000622250,;CNTNAP4,frameshift_variant,p.Leu255PhefsTer28,ENST00000478060,NM_138994.3;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000471618,;	T	ENST00000611870	Transcript	frameshift_variant	1221-1222/4867	836-837/3927	279/1308	R/RX	cgt/cgTt		1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3			6/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659,SMART_domains:SM00282,Superfamily_domains:SSF49899																	HIGH	1	insertion	1	3		1										PASS		.	.												T	7	5	39	76448860	76448860	-	T	1	0	1	1	0	0	0	0	0	3431	1145	40	0		0	CNTNAP4	16	76448860	Frame_Shift_Ins	INS	-	C3N-00175_TP	880725	76448860	13889485	1107	11257											
ZNF469	0	.	GRCh38	chr16	88436487	88436487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctggagatgccggcccctgCcgatgactcctcctcttctc	4	10	9	18	2	2	2	0	1	2	1	5	4	4	2	7	2	2	0	7	2	0	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.8933C>A	p.Ala2978Asp	p.A2978D	ENST00000437464	2/2	145	88	57	249	248	1	strelka-varscan-mutect	ZNF469,missense_variant,p.Ala3006Asp,ENST00000565624,;ZNF469,missense_variant,p.Ala2978Asp,ENST00000437464,NM_001127464.2;	A	ENST00000437464	Transcript	missense_variant	8933/13203	8933/11778	2978/3925	A/D	gCc/gAc		1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2	tolerated(0.1)		2/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	MODERATE	1	SNV	5			1										PASS		rs931171498	.												A	3	1	39	88436487	88436487	C	A	1	0	0	0	0	1	0	0	0	18500	739	26	2		2	ZNF469	16	88436487	Missense_Mutation	SNP	C	C3N-00175_TP	11987627	88436487	1901858	1108	11258											
TRAPPC2L	0	.	GRCh38	chr16	88860219	88860219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtagagcttgcccatttGgcttcccaggtgtgcccagt	6	11	13	11	0	0	1	0	0	0	1	1	2	1	2	3	3	3	3	3	3	1	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.621G>T	p.Leu207Phe	p.L207F	ENST00000565504	4/4	186	135	51	246	246	0	strelka-varscan-mutect	TRAPPC2L,missense_variant,p.Leu207Phe,ENST00000565504,;TRAPPC2L,intron_variant,,ENST00000301021,NM_001318524.1,NM_001318525.1,NM_001318528.1,NM_001318530.1,NM_016209.3;TRAPPC2L,intron_variant,,ENST00000564365,;TRAPPC2L,intron_variant,,ENST00000567895,;TRAPPC2L,intron_variant,,ENST00000568583,;TRAPPC2L,intron_variant,,ENST00000561840,;TRAPPC2L,intron_variant,,ENST00000567312,;GALNS,upstream_gene_variant,,ENST00000268695,NM_000512.4;PABPN1L,downstream_gene_variant,,ENST00000419291,NM_001080487.2;PABPN1L,downstream_gene_variant,,ENST00000411789,NM_001294328.1;PABPN1L,downstream_gene_variant,,ENST00000547152,;GALNS,upstream_gene_variant,,ENST00000569433,;GALNS,upstream_gene_variant,,ENST00000568311,;GALNS,upstream_gene_variant,,ENST00000562831,;TRAPPC2L,downstream_gene_variant,,ENST00000625770,;GALNS,upstream_gene_variant,,ENST00000565364,;TRAPPC2L,intron_variant,,ENST00000565205,;TRAPPC2L,intron_variant,,ENST00000564404,;TRAPPC2L,intron_variant,,ENST00000562125,;TRAPPC2L,intron_variant,,ENST00000563514,;GALNS,upstream_gene_variant,,ENST00000567525,;GALNS,upstream_gene_variant,,ENST00000568613,;TRAPPC2L,downstream_gene_variant,,ENST00000564547,;TRAPPC2L,downstream_gene_variant,,ENST00000565309,;TRAPPC2L,downstream_gene_variant,,ENST00000562792,;	T	ENST00000565504	Transcript	missense_variant	645/3102	621/726	207/241	L/F	ttG/ttT		1		1	TRAPPC2L	HGNC	HGNC:30887	protein_coding			ENSP00000455100		H3BP13	UPI000059D3DD				4/4																			MODERATE		SNV	2			1										PASS		.	.												T	3	4	39	88860219	88860219	G	T	1	0	0	0	0	1	0	0	0	16946	1339	47	2		2	TRAPPC2L	16	88860219	Missense_Mutation	SNP	G	C3N-00175_TP	423732	88860219	1478126	1109	11259											
WDR81	0	.	GRCh38	chr17	1725916	1725916	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaatgaggaggcccctgtGgcaagggatgaggcgggcat	10	5	19	7	1	0	3	0	2	0	1	0	6	0	5	2	6	0	2	2	6	2	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.957G>T	p.=	p.V319V	ENST00000409644	1/10	69	48	21	118	118	0	strelka-varscan-mutect	WDR81,synonymous_variant,p.=,ENST00000409644,NM_001163809.1;WDR81,intron_variant,,ENST00000309182,NM_152348.3;WDR81,intron_variant,,ENST00000419248,NM_001163811.1;WDR81,intron_variant,,ENST00000437219,NM_001163673.1;WDR81,intron_variant,,ENST00000446363,;WDR81,intron_variant,,ENST00000418841,;WDR81,intron_variant,,ENST00000455636,;WDR81,intron_variant,,ENST00000468539,;WDR81,upstream_gene_variant,,ENST00000575206,;RP11-961A15.1,splice_region_variant,,ENST00000576540,;WDR81,intron_variant,,ENST00000492901,;WDR81,upstream_gene_variant,,ENST00000464528,;WDR81,upstream_gene_variant,,ENST00000479966,;WDR81,upstream_gene_variant,,ENST00000474958,;	T	ENST00000409644	Transcript	synonymous_variant	957/6733	957/5826	319/1941	V	gtG/gtT		1		1	WDR81	HGNC	HGNC:26600	protein_coding	YES	CCDS54062.1	ENSP00000386609	Q562E7		UPI0001881A85	NM_001163809.1			1/10																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	1725916	1725916	G	T	1	0	0	0	0	0	0	0	1	17885	1335	47	2		2	WDR81	17	1725916	Silent	SNP	G	C3N-00175_TP		1725916	81531525	1110	11260											
ASPA	0	.	GRCh38	chr17	3494384	3494384	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgcgccattgaggtctaTaaaattatagagaaagttga	14	11	9	7	1	1	3	0	2	1	1	1	4	1	3	2	1	1	1	2	1	6	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.669T>C	p.=	p.Y223Y	ENST00000263080	5/6	248	185	63	352	352	0	strelka-varscan-mutect	ASPA,synonymous_variant,p.=,ENST00000263080,NM_000049.2;ASPA,synonymous_variant,p.=,ENST00000456349,NM_001128085.1;SPATA22,intron_variant,,ENST00000541913,NM_001321336.1;SPATA22,intron_variant,,ENST00000570318,;	C	ENST00000263080	Transcript	synonymous_variant	827/5431	669/942	223/313	Y	taT/taC		1		1	ASPA	HGNC	HGNC:756	protein_coding	YES	CCDS11028.1	ENSP00000263080	P45381	Q6FH48	UPI00000012D1	NM_000049.2			5/6		HAMAP:MF_00704,hmmpanther:PTHR15162,hmmpanther:PTHR15162:SF9,PIRSF_domain:PIRSF018001,Pfam_domain:PF04952,Superfamily_domains:SSF53187																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	39	3494384	3494384	T	C	1	0	0	0	0	0	0	0	1	1197	1413	49	5		5	ASPA	17	3494384	Silent	SNP	T	C3N-00175_TP	1768468	3494384	79763057	1111	11261											
ITGAE	0	.	GRCh38	chr17	3751861	3751861	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cactcagtatgcgtgccaagGagaaagaaccatcctgtaaa	15	7	9	10	1	1	2	1	0	0	2	2	3	2	2	3	1	3	2	3	1	6	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1682C>G	p.Ser561Cys	p.S561C	ENST00000263087	15/31	96	85	11	169	169	0	strelka-varscan-mutect	ITGAE,missense_variant,p.Ser561Cys,ENST00000263087,NM_002208.4;ITGAE,downstream_gene_variant,,ENST00000572121,;	C	ENST00000263087	Transcript	missense_variant	1781/3858	1682/3540	561/1179	S/C	tCc/tGc		1		-1	ITGAE	HGNC	HGNC:6147	protein_coding	YES	CCDS32531.1	ENSP00000263087	P38570		UPI000049DE2D	NM_002208.4	deleterious(0)		15/31		Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF79,SMART_domains:SM00191,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	3751861	3751861	G	C	1	0	0	0	0	1	0	0	0	7792	1174	41	4		4	ITGAE	17	3751861	Missense_Mutation	SNP	G	C3N-00175_TP	257477	3751861	79505580	1112	11262											
CAMKK1	0	.	GRCh38	chr17	3885598	3885598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgggccaccatctgcCtcctccaagtgagtcacatc	7	9	9	16	0	3	1	1	1	2	0	6	1	5	1	5	2	1	1	5	2	1	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.90G>T	p.Glu30Asp	p.E30D	ENST00000158166	2/16	198	139	59	313	313	0	strelka-varscan-mutect	CAMKK1,missense_variant,p.Glu30Asp,ENST00000348335,NM_172206.1,NM_032294.2;CAMKK1,missense_variant,p.Glu57Asp,ENST00000381769,;CAMKK1,missense_variant,p.Glu30Asp,ENST00000158166,NM_172207.2;CAMKK1,non_coding_transcript_exon_variant,,ENST00000573483,;	A	ENST00000158166	Transcript	missense_variant	239/2459	90/1563	30/520	E/D	gaG/gaT		1		-1	CAMKK1	HGNC	HGNC:1469	protein_coding	YES	CCDS11039.1	ENSP00000158166	Q8N5S9		UPI0000141119	NM_172207.2	tolerated_low_confidence(0.16)		2/16		hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF232																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	3885598	3885598	C	A	1	0	0	0	0	1	0	0	0	2297	680	24	2		2	CAMKK1	17	3885598	Missense_Mutation	SNP	C	C3N-00175_TP	133737	3885598	79371843	1113	11263											
C17orf107	0	.	GRCh38	chr17	4900049	4900049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggagccacccgaaccgaaGatgcaggggatgctgcctgc	9	5	14	13	2	0	1	0	0	0	1	0	5	0	3	4	3	6	2	4	3	2	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.180G>A	p.=	p.K60K	ENST00000381365	2/3	46	42	4	87	87	0	varscan-mutect	C17orf107,synonymous_variant,p.=,ENST00000381365,NM_001145536.1;C17orf107,synonymous_variant,p.=,ENST00000521575,;CHRNE,intron_variant,,ENST00000293780,NM_000080.3;MINK1,downstream_gene_variant,,ENST00000355280,NM_153827.4,NM_015716.4;MINK1,downstream_gene_variant,,ENST00000347992,NM_170663.4;MINK1,downstream_gene_variant,,ENST00000453408,NM_001024937.3;MINK1,downstream_gene_variant,,ENST00000576037,;CHRNE,downstream_gene_variant,,ENST00000575637,;CHRNE,intron_variant,,ENST00000572438,;MINK1,downstream_gene_variant,,ENST00000572330,;MINK1,downstream_gene_variant,,ENST00000574453,NM_001321236.1;MINK1,downstream_gene_variant,,ENST00000571207,;MINK1,downstream_gene_variant,,ENST00000574871,;MINK1,downstream_gene_variant,,ENST00000575511,;	A	ENST00000381365	Transcript	synonymous_variant	407/3199	180/573	60/190	K	aaG/aaA		1		1	C17orf107	HGNC	HGNC:37238	protein_coding	YES	CCDS45591.1	ENSP00000370770	Q6ZR85		UPI00001C0FE1	NM_001145536.1			2/3		hmmpanther:PTHR38506,hmmpanther:PTHR38506:SF1																	LOW		SNV	2			1										PASS		.	.												A	2	1	39	4900049	4900049	G	A	1	0	0	0	0	0	0	0	1	1878	933	33	3		3	C17orf107	17	4900049	Silent	SNP	G	C3N-00175_TP	1014451	4900049	78357392	1114	11264											
USP6	0	.	GRCh38	chr17	5137144	5137144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaggtctatgcgggcaGtgtgcctcgttaggctgcct	7	10	15	9	2	1	0	0	0	1	0	2	1	1	1	2	4	3	3	2	4	4	2	rs766182812		C3N-00175_TP	C3N-00175_NB	G	G																c.783G>T	p.Gln261His	p.Q261H	ENST00000574788	19/38	290	194	96	397	397	0	strelka-varscan-mutect	USP6,missense_variant,p.Gln261His,ENST00000574788,NM_001304284.1;USP6,missense_variant,p.Gln261His,ENST00000250066,NM_004505.3;USP6,downstream_gene_variant,,ENST00000572429,;USP6,missense_variant,p.Gln261His,ENST00000575709,;USP6,missense_variant,p.Gln261His,ENST00000572949,;USP6,downstream_gene_variant,,ENST00000357482,;	T	ENST00000574788	Transcript	missense_variant	3013/8464	783/4221	261/1406	Q/H	caG/caT	rs766182812	1		1	USP6	HGNC	HGNC:12629	protein_coding	YES	CCDS11069.2	ENSP00000460380	P35125		UPI000006226F	NM_001304284.1	deleterious_low_confidence(0.02)		19/38		Pfam_domain:PF00566,PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF233,SMART_domains:SM00164																	MODERATE	1	SNV	1			1										PASS		rs766182812	.												T	3	4	39	5137144	5137144	G	T	1	0	0	0	0	1	0	0	0	17629	1020	36	2		2	USP6	17	5137144	Missense_Mutation	SNP	G	C3N-00175_TP	237095	5137144	78120297	1115	11265											
RABEP1	0	.	GRCh38	chr17	5350629	5350629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactgaagaagaaagatcaGgtgaatagaagtttttagga	18	9	12	2	0	1	6	1	2	0	4	1	8	1	7	0	2	1	1	0	2	8	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.963G>T	p.Gln321His	p.Q321H	ENST00000537505	7/18	144	111	33	257	257	0	strelka-varscan-mutect	RABEP1,missense_variant,p.Gln321His,ENST00000537505,NM_004703.5,NM_001291581.1;RABEP1,missense_variant,p.Gln321His,ENST00000341923,NM_001083585.2;RABEP1,upstream_gene_variant,,ENST00000574568,;RABEP1,splice_region_variant,,ENST00000575475,;	T	ENST00000537505	Transcript	missense_variant,splice_region_variant	1150/5365	963/2589	321/862	Q/H	caG/caT		1		1	RABEP1	HGNC	HGNC:17677	protein_coding	YES	CCDS45592.1	ENSP00000445408	Q15276		UPI00000745A5	NM_004703.5,NM_001291581.1	deleterious(0.01)		7/18		Low_complexity_(Seg):seg,hmmpanther:PTHR31179:SF5,hmmpanther:PTHR31179,Pfam_domain:PF03528																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	5350629	5350629	G	T	1	0	0	0	0	1	0	0	0	13120	1014	35	2		2	RABEP1	17	5350629	Missense_Mutation	SNP	G	C3N-00175_TP	213485	5350629	77906812	1116	11266											
GUCY2D	0	.	GRCh38	chr17	8014015	8014015	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcggccctccatggaccAcaccttcgacctggtcaggg	7	8	10	16	2	1	0	1	0	0	0	4	2	2	1	5	4	0	0	5	4	0	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2399A>T	p.His800Leu	p.H800L	ENST00000254854	12/20	298	257	41	432	431	1	strelka-varscan-mutect	GUCY2D,missense_variant,p.His800Leu,ENST00000254854,NM_000180.3;RP11-1099M24.9,non_coding_transcript_exon_variant,,ENST00000623126,;GUCY2D,upstream_gene_variant,,ENST00000574510,;	T	ENST00000254854	Transcript	missense_variant	2549/3698	2399/3312	800/1103	H/L	cAc/cTc		1		1	GUCY2D	HGNC	HGNC:4689	protein_coding	YES	CCDS11127.1	ENSP00000254854	Q02846		UPI0000128C1C	NM_000180.3	deleterious(0.04)		12/20		PROSITE_profiles:PS50011,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF228,Pfam_domain:PF07714,Gene3D:1.10.510.10,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	8014015	8014015	A	T	1	0	0	0	0	1	0	0	0	6779	159	6	4		4	GUCY2D	17	8014015	Missense_Mutation	SNP	A	C3N-00175_TP	2663386	8014015	75243426	1117	11267											
PFAS	0	.	GRCh38	chr17	8263932	8263932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccatcactggagaccGgagagtgagttggcccaggg	9	5	17	10	1	1	3	1	1	0	2	1	5	1	3	3	5	0	2	3	5	0	1	rs142452570		C3N-00175_TP	C3N-00175_NB	G	G																c.1787G>T	p.Arg596Leu	p.R596L	ENST00000314666	15/28	36	26	10	87	87	0	strelka-varscan-mutect	PFAS,missense_variant,p.Arg596Leu,ENST00000314666,NM_012393.2;PFAS,intron_variant,,ENST00000583059,;PFAS,upstream_gene_variant,,ENST00000546020,;PFAS,non_coding_transcript_exon_variant,,ENST00000585319,;PFAS,3_prime_UTR_variant,,ENST00000580356,;PFAS,non_coding_transcript_exon_variant,,ENST00000581288,;PFAS,upstream_gene_variant,,ENST00000578979,;PFAS,upstream_gene_variant,,ENST00000580251,;	T	ENST00000314666	Transcript	missense_variant	1920/5371	1787/4017	596/1338	R/L	cGg/cTg	rs142452570	1		1	PFAS	HGNC	HGNC:8863	protein_coding	YES	CCDS11136.1	ENSP00000313490	O15067		UPI00001A95E5	NM_012393.2	tolerated(0.06)		15/28		HAMAP:MF_00419,hmmpanther:PTHR10099,hmmpanther:PTHR10099:SF1,TIGRFAM_domain:TIGR01735,Pfam_domain:PF02769,Superfamily_domains:SSF56042																	MODERATE	1	SNV	1			1										PASS		rs142452570	.												T	3	4	39	8263932	8263932	G	T	1	0	0	0	0	1	0	0	0	11844	1130	39	1		1	PFAS	17	8263932	Missense_Mutation	SNP	G	C3N-00175_TP	249917	8263932	74993509	1118	11268											
PIK3R5	0	.	GRCh38	chr17	8888256	8888256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagcgtggaagccttgggatCctcatctccactcaggaagg	9	9	12	11	1	3	0	2	0	1	0	5	3	4	3	3	4	2	0	3	4	3	2	rs769606668		C3N-00175_TP	C3N-00175_NB	C	C																c.1531G>T	p.Asp511Tyr	p.D511Y	ENST00000447110	10/19	221	174	47	309	308	1	strelka-varscan-mutect	PIK3R5,missense_variant,p.Asp511Tyr,ENST00000447110,NM_001142633.2;PIK3R5,missense_variant,p.Asp125Tyr,ENST00000616147,NM_001251852.1;PIK3R5,missense_variant,p.Asp125Tyr,ENST00000611902,NM_001251853.1,NM_001251851.1;PIK3R5,missense_variant,p.Asp125Tyr,ENST00000623421,NM_001251855.1;PIK3R5,missense_variant,p.Asp511Tyr,ENST00000581552,NM_014308.3;PIK3R5,missense_variant,p.Asp511Tyr,ENST00000584803,;PIK3R5,downstream_gene_variant,,ENST00000578457,;PIK3R5,downstream_gene_variant,,ENST00000580959,;PIK3R5,downstream_gene_variant,,ENST00000584456,;PIK3R5,upstream_gene_variant,,ENST00000578743,;PIK3R5,downstream_gene_variant,,ENST00000577981,;PIK3R5,downstream_gene_variant,,ENST00000583812,;PIK3R5,3_prime_UTR_variant,,ENST00000269300,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000578515,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000583039,;PIK3R5,upstream_gene_variant,,ENST00000577214,;	A	ENST00000447110	Transcript	missense_variant	1661/4495	1531/2643	511/880	D/Y	Gat/Tat	rs769606668	1		-1	PIK3R5	HGNC	HGNC:30035	protein_coding	YES	CCDS11147.1	ENSP00000392812	Q8WYR1	L7RT34	UPI0000071DB4	NM_001142633.2	deleterious(0)		10/19		Pfam_domain:PF10486																	MODERATE	1	SNV	5			1										PASS		rs769606668	.												A	3	1	39	8888256	8888256	C	A	1	0	0	0	0	1	0	0	0	12017	855	30	2		2	PIK3R5	17	8888256	Missense_Mutation	SNP	C	C3N-00175_TP	624324	8888256	74369185	1119	11269											
MYH13	0	.	GRCh38	chr17	10345346	10345346	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttctcattggtgaagttGatgcacagctgctccaggct	8	13	11	9	0	1	2	1	2	1	0	3	2	2	2	1	2	3	6	1	2	1	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1440C>G	p.Ile480Met	p.I480M	ENST00000418404	14/41	406	365	41	458	458	0	varscan-mutect	MYH13,missense_variant,p.Ile480Met,ENST00000418404,;MYH13,missense_variant,p.Ile480Met,ENST00000252172,NM_003802.2;MYH13,missense_variant,p.Ile480Met,ENST00000621918,;RP11-401O9.3,downstream_gene_variant,,ENST00000577743,;	C	ENST00000418404	Transcript	missense_variant	1604/6296	1440/5817	480/1938	I/M	atC/atG		1		-1	MYH13	HGNC	HGNC:7571	protein_coding	YES	CCDS45613.1	ENSP00000404570	Q9UKX3		UPI0000DB39EA		deleterious(0)		14/41		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF504,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	39	10345346	10345346	G	C	1	0	0	0	0	1	0	0	0	10032	1280	45	4		4	MYH13	17	10345346	Missense_Mutation	SNP	G	C3N-00175_TP	1457090	10345346	72912095	1120	11270											
MYH1	0	.	GRCh38	chr17	10505221	10505221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaccctctgcacatggcctGggttcgggtaatcagctggg	7	9	14	11	1	2	0	1	0	1	0	3	1	2	0	2	4	3	4	2	4	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2377C>A	p.Gln793Lys	p.Q793K	ENST00000226207	21/40	192	127	65	230	230	0	strelka-varscan-mutect	MYH1,missense_variant,p.Gln793Lys,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000226207	Transcript	missense_variant	2472/6024	2377/5820	793/1939	Q/K	Cag/Aag		1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3	deleterious(0)		21/40		Gene3D:1wdcA00,PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF454,SMART_domains:SM00015,Superfamily_domains:SSF52540																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	39	10505221	10505221	G	T	1	0	0	0	0	1	0	0	0	10029	1357	47	2		2	MYH1	17	10505221	Missense_Mutation	SNP	G	C3N-00175_TP	159875	10505221	72752220	1121	11271											
ZNF287	0	.	GRCh38	chr17	16552568	16552568	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatgtattttttgatgcTgaagaaggtgtgtactctga	10	16	11	4	0	1	4	0	3	1	1	1	4	1	4	0	1	2	4	0	1	5	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1574A>G	p.Gln525Arg	p.Q525R	ENST00000395824	6/6	85	56	29	155	155	0	strelka-varscan-mutect	ZNF287,missense_variant,p.Gln525Arg,ENST00000395824,;ZNF287,missense_variant,p.Gln525Arg,ENST00000395825,NM_020653.2;ZNF287,downstream_gene_variant,,ENST00000498796,;	C	ENST00000395824	Transcript	missense_variant	2192/3373	1574/2286	525/761	Q/R	cAg/cGg		1		-1	ZNF287	HGNC	HGNC:13502	protein_coding	YES	CCDS11179.2	ENSP00000379168	Q9HBT7		UPI0000200A57		tolerated(0.54)		6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF236,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs768193322	.												C	3	2	39	16552568	16552568	T	C	1	0	0	0	0	1	0	0	0	18401	1580	55	5		5	ZNF287	17	16552568	Missense_Mutation	SNP	T	C3N-00175_TP	6047347	16552568	66704873	1122	11272											
CCDC144A	0	.	GRCh38	chr17	16735251	16735251	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataacacaagagatgctcttGgaagagagagtttgattttg	14	12	11	4	0	1	4	0	1	1	3	1	7	1	5	0	1	2	2	0	1	3	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2980G>T	p.Gly994Ter	p.G994*	ENST00000360524	12/18	44	30	14	89	89	0	strelka-varscan-mutect	CCDC144A,stop_gained,p.Gly994Ter,ENST00000399273,;CCDC144A,stop_gained,p.Gly994Ter,ENST00000360524,NM_014695.2;CCDC144A,downstream_gene_variant,,ENST00000456009,;RP11-219A15.1,stop_gained,p.Gly994Ter,ENST00000448331,;CCDC144A,3_prime_UTR_variant,,ENST00000360495,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000470068,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000328495,;	T	ENST00000360524	Transcript	stop_gained	3056/5830	2980/4284	994/1427	G/*	Gga/Tga		1		1	CCDC144A	HGNC	HGNC:29072	protein_coding	YES	CCDS45621.1	ENSP00000353717	A2RUR9		UPI0000F095D0	NM_014695.2			12/18		hmmpanther:PTHR22245:SF0,hmmpanther:PTHR22245,Pfam_domain:PF14915																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	39	16735251	16735251	G	T	1	0	0	0	0	0	1	0	0	2465	1349	47	2		2	CCDC144A	17	16735251	Nonsense_Mutation	SNP	G	C3N-00175_TP	182683	16735251	66522190	1123	11273											
MYO15A	0	.	GRCh38	chr17	18151502	18151502	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtaccagcagccgttcCggggaggccggcctgaggcc	6	4	17	14	3	0	1	0	1	0	0	1	2	1	2	6	6	3	4	6	6	1	2	rs778098806		C3N-00175_TP	C3N-00175_NB	C	C																c.7762C>A	p.=	p.R2588R	ENST00000205890	40/66	417	340	77	421	421	0	strelka-varscan-mutect	MYO15A,synonymous_variant,p.=,ENST00000205890,NM_016239.3;MYO15A,synonymous_variant,p.=,ENST00000615845,;MYO15A,upstream_gene_variant,,ENST00000418233,;MYO15A,upstream_gene_variant,,ENST00000445289,;MYO15A,downstream_gene_variant,,ENST00000578999,;MYO15A,upstream_gene_variant,,ENST00000536811,;MYO15A,upstream_gene_variant,,ENST00000585180,;	A	ENST00000205890	Transcript	synonymous_variant	8100/11863	7762/10593	2588/3530	R	Cgg/Agg	rs778098806,COSM1216307	1		1	MYO15A	HGNC	HGNC:7594	protein_coding	YES	CCDS42271.1	ENSP00000205890	Q9UKN7		UPI0000E59E6E	NM_016239.3			40/66													0,1						LOW	1	SNV	5		0,1	1										PASS		rs778098806	.												A	2	1	39	18151502	18151502	C	A	1	0	0	0	0	0	0	0	1	10063	643	23	1		1	MYO15A	17	18151502	Silent	SNP	C	C3N-00175_TP	1416251	18151502	65105939	1124	11274											
ZNF286B	0	.	GRCh38	chr17	18662608	18662608	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcttacattcacggcattCaaagagaattctagtatgag	13	14	7	7	1	4	2	2	1	2	1	4	3	4	2	0	1	1	2	0	1	5	7	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.898G>C	p.Glu300Gln	p.E300Q	ENST00000545289	5/5	192	180	12	205	205	0	varscan-mutect	ZNF286B,missense_variant,p.Glu300Gln,ENST00000545289,NM_001145045.1;ZNF286B,3_prime_UTR_variant,,ENST00000285274,;TBC1D28,upstream_gene_variant,,ENST00000570881,;	G	ENST00000545289	Transcript	missense_variant	1149/5328	898/1569	300/522	E/Q	Gaa/Caa		1		-1	ZNF286B	HGNC	HGNC:33241	protein_coding	YES	CCDS58523.1	ENSP00000461413	P0CG31		UPI000192A2F2	NM_001145045.1	deleterious(0.01)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF217,hmmpanther:PTHR24377,Gene3D:3.30.160.60,SMART_domains:SM00355																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	39	18662608	18662608	C	G	1	0	0	0	0	1	0	0	0	18400	835	29	4		4	ZNF286B	17	18662608	Missense_Mutation	SNP	C	C3N-00175_TP	511106	18662608	64594833	1125	11275											
SLC47A2	0	.	GRCh38	chr17	19714777	19714777	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcctacagaaactccgcAgacattgacaaactggcgcc	14	6	7	14	2	0	3	0	1	0	2	2	3	2	3	3	1	4	1	3	1	4	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.238T>A	p.Cys80Ser	p.C80S	ENST00000325411	3/17	290	198	92	267	267	0	strelka-varscan-mutect	SLC47A2,missense_variant,p.Cys80Ser,ENST00000350657,NM_001256663.1;SLC47A2,missense_variant,p.Cys80Ser,ENST00000325411,NM_001099646.1,NM_152908.3;SLC47A2,missense_variant,p.Cys80Ser,ENST00000433844,;RP11-311F12.1,upstream_gene_variant,,ENST00000577087,;SLC47A2,non_coding_transcript_exon_variant,,ENST00000463318,;SLC47A2,missense_variant,p.Cys80Ser,ENST00000574239,;SLC47A2,non_coding_transcript_exon_variant,,ENST00000467379,;SLC47A2,non_coding_transcript_exon_variant,,ENST00000467609,;SLC47A2,non_coding_transcript_exon_variant,,ENST00000483510,;SLC47A2,non_coding_transcript_exon_variant,,ENST00000574220,;SLC47A2,downstream_gene_variant,,ENST00000456947,;	T	ENST00000325411	Transcript	missense_variant	289/2258	238/1809	80/602	C/S	Tgc/Agc		1		-1	SLC47A2	HGNC	HGNC:26439	protein_coding	YES	CCDS11211.1	ENSP00000326671	Q86VL8		UPI0000190813	NM_001099646.1,NM_152908.3	tolerated(0.11)		3/17		Pfam_domain:PF01554,hmmpanther:PTHR11206,hmmpanther:PTHR11206:SF81,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	19714777	19714777	A	T	1	0	0	0	0	1	0	0	0	14925	188	7	4		4	SLC47A2	17	19714777	Missense_Mutation	SNP	A	C3N-00175_TP	1052169	19714777	63542664	1126	11276											
ALDH3A1	0	.	GRCh38	chr17	19740434	19740434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgccgggcactaatgattCttccatagtcccgggatttc	8	12	10	11	2	1	1	0	1	1	0	4	2	3	2	3	2	1	1	3	2	2	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.851G>C	p.Arg284Thr	p.R284T	ENST00000457500	6/10	199	185	14	185	185	0	strelka-varscan-mutect	ALDH3A1,missense_variant,p.Arg284Thr,ENST00000457500,NM_001135168.1;ALDH3A1,missense_variant,p.Arg284Thr,ENST00000225740,NM_000691.4;ALDH3A1,missense_variant,p.Arg284Thr,ENST00000444455,NM_001135167.1;ALDH3A1,missense_variant,p.Arg211Thr,ENST00000494157,;ALDH3A1,missense_variant,p.Arg284Thr,ENST00000439102,;ALDH3A1,intron_variant,,ENST00000395555,;ALDH3A1,downstream_gene_variant,,ENST00000574162,;ALDH3A1,downstream_gene_variant,,ENST00000426645,;ALDH3A1,downstream_gene_variant,,ENST00000570414,;ALDH3A1,downstream_gene_variant,,ENST00000573368,;RP11-311F12.2,downstream_gene_variant,,ENST00000580884,;ALDH3A1,downstream_gene_variant,,ENST00000485231,;ALDH3A1,missense_variant,p.Arg284Thr,ENST00000468746,;ALDH3A1,non_coding_transcript_exon_variant,,ENST00000479677,;ALDH3A1,non_coding_transcript_exon_variant,,ENST00000485472,;ALDH3A1,non_coding_transcript_exon_variant,,ENST00000487650,;ALDH3A1,downstream_gene_variant,,ENST00000575860,;ALDH3A1,downstream_gene_variant,,ENST00000575103,;	G	ENST00000457500	Transcript	missense_variant	1181/1925	851/1362	284/453	R/T	aGa/aCa		1		-1	ALDH3A1	HGNC	HGNC:405	protein_coding	YES	CCDS11212.1	ENSP00000411821	P30838		UPI000013C87C	NM_001135168.1	deleterious(0)		6/10		hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF105,PIRSF_domain:PIRSF036492,Pfam_domain:PF00171,Gene3D:3.40.309.10,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		rs1223928903	.												G	3	3	39	19740434	19740434	C	G	1	0	0	0	0	1	0	0	0	597	913	32	4		4	ALDH3A1	17	19740434	Missense_Mutation	SNP	C	C3N-00175_TP	25657	19740434	63517007	1127	11277											
CDRT15L2	0	.	GRCh38	chr17	20579909	20579909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacagcccggggcaggccCtagctggccaggccacacca	9	2	14	16	1	0	0	0	0	0	0	0	1	0	1	5	6	2	2	5	6	1	1			C3N-00175_TP	C3N-00175_NB	C	C																c.166C>A	p.Leu56Ile	p.L56I	ENST00000399044	1/2	251	207	44	206	206	0	strelka-varscan-mutect	CDRT15L2,missense_variant,p.Leu56Ile,ENST00000399044,NM_001190790.1;RP11-434D2.12,upstream_gene_variant,,ENST00000580931,;ZSWIM5P2,downstream_gene_variant,,ENST00000420212,;	A	ENST00000399044	Transcript	missense_variant	186/1048	166/846	56/281	L/I	Cta/Ata	COSM5310194	1		1	CDRT15L2	HGNC	HGNC:34075	protein_coding	YES	CCDS54096.1	ENSP00000382000	A8MXV6		UPI00001D7A81	NM_001190790.1	deleterious_low_confidence(0.05)		1/2		hmmpanther:PTHR16471,hmmpanther:PTHR16471:SF0											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	39	20579909	20579909	C	A	1	0	0	0	0	1	0	0	0	2881	680	24	2		2	CDRT15L2	17	20579909	Missense_Mutation	SNP	C	C3N-00175_TP	839475	20579909	62677532	1128	11278											
MAP2K3	0	.	GRCh38	chr17	21304494	21304494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgactttggcatcagtGgctacttggtggactctgtg	5	15	14	7	0	2	1	1	1	1	0	2	2	2	2	0	4	1	2	0	4	1	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.637G>T	p.Gly213Cys	p.G213C	ENST00000342679	8/12	453	379	74	351	351	0	strelka-varscan-mutect	MAP2K3,missense_variant,p.Gly213Cys,ENST00000342679,NM_145109.2;MAP2K3,missense_variant,p.Gly184Cys,ENST00000361818,NM_002756.4;MAP2K3,missense_variant,p.Gly184Cys,ENST00000613338,;MAP2K3,missense_variant,p.Gly184Cys,ENST00000316920,;MAP2K3,downstream_gene_variant,,ENST00000526076,;MAP2K3,3_prime_UTR_variant,,ENST00000395491,NM_001316332.1;MAP2K3,3_prime_UTR_variant,,ENST00000496046,;MAP2K3,downstream_gene_variant,,ENST00000583508,;MAP2K3,downstream_gene_variant,,ENST00000479129,;	T	ENST00000342679	Transcript	missense_variant	886/2303	637/1044	213/347	G/C	Ggc/Tgc		1		1	MAP2K3	HGNC	HGNC:6843	protein_coding	YES	CCDS11217.1	ENSP00000345083	P46734	Q6FI23	UPI000012F48C	NM_145109.2	deleterious(0)		8/12		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF191,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	21304494	21304494	G	T	1	0	0	0	0	1	0	0	0	9160	1348	47	2		2	MAP2K3	17	21304494	Missense_Mutation	SNP	G	C3N-00175_TP	724585	21304494	61952947	1129	11279											
NOS2	0	.	GRCh38	chr17	27765673	27765673	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggcaggtagttcaggcCttggccatcctcacaggaga	8	7	12	14	1	2	1	2	0	0	1	3	2	3	1	5	5	0	3	5	5	1	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2290G>T	p.Gly764Cys	p.G764C	ENST00000313735	20/27	143	80	63	110	110	0	strelka-varscan-mutect	NOS2,missense_variant,p.Gly764Cys,ENST00000313735,NM_000625.4;NOS2,missense_variant,p.Gly725Cys,ENST00000621962,;	A	ENST00000313735	Transcript	missense_variant	2524/4176	2290/3462	764/1153	G/C	Ggc/Tgc		1		-1	NOS2	HGNC	HGNC:7873	protein_coding	YES	CCDS11223.1	ENSP00000327251	P35228		UPI000011D645	NM_000625.4	deleterious(0.02)		20/27		PROSITE_profiles:PS51384,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF56,Pfam_domain:PF00667,Gene3D:2.40.30.10,Superfamily_domains:SSF63380																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	27765673	27765673	C	A	1	0	0	0	0	1	0	0	0	10588	681	24	2		2	NOS2	17	27765673	Missense_Mutation	SNP	C	C3N-00175_TP	6461179	27765673	55491768	1130	11280											
NUFIP2	0	.	GRCh38	chr17	29293796	29293796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagacctgttttcttcttCggcgtttcctggtgctgctg	2	16	10	13	2	2	1	0	0	2	1	4	1	3	1	3	2	2	4	3	2	0	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.264G>A	p.=	p.P88P	ENST00000225388	1/4	43	39	4	51	51	0	strelka-varscan-mutect	NUFIP2,synonymous_variant,p.=,ENST00000225388,NM_020772.2;NUFIP2,synonymous_variant,p.=,ENST00000579665,;	T	ENST00000225388	Transcript	synonymous_variant	323/10850	264/2088	88/695	P	ccG/ccA		1		-1	NUFIP2	HGNC	HGNC:17634	protein_coding	YES	CCDS32600.1	ENSP00000225388	Q7Z417	A1L3A7	UPI00001B078D	NM_020772.2			1/4		hmmpanther:PTHR28333,hmmpanther:PTHR28333:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	29293796	29293796	C	T	1	0	0	0	0	0	0	0	1	10813	871	31	1		1	NUFIP2	17	29293796	Silent	SNP	C	C3N-00175_TP	1528123	29293796	53963645	1131	11281											
ABHD15	0	.	GRCh38	chr17	29566706	29566706	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcgcctctgagcgccgCagggcgcgcagcaggcactg	6	4	15	16	5	1	1	0	1	1	0	2	1	2	1	3	2	3	4	3	2	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.261G>C	p.=	p.L87L	ENST00000307201	1/2	158	123	35	192	192	0	strelka-varscan-mutect	ABHD15,synonymous_variant,p.=,ENST00000307201,NM_198147.2;TP53I13,upstream_gene_variant,,ENST00000301057,NM_138349.2;TP53I13,upstream_gene_variant,,ENST00000578749,;TP53I13,upstream_gene_variant,,ENST00000581411,;TP53I13,upstream_gene_variant,,ENST00000580183,;TP53I13,upstream_gene_variant,,ENST00000582829,;TP53I13,upstream_gene_variant,,ENST00000583940,;ABHD15-AS1,intron_variant,,ENST00000581474,;RP11-68I3.4,upstream_gene_variant,,ENST00000579050,;TP53I13,intron_variant,,ENST00000584522,;TP53I13,intron_variant,,ENST00000578073,;TP53I13,upstream_gene_variant,,ENST00000579674,;TP53I13,upstream_gene_variant,,ENST00000577934,;TP53I13,upstream_gene_variant,,ENST00000580132,;	G	ENST00000307201	Transcript	synonymous_variant	432/3592	261/1407	87/468	L	ctG/ctC		1		-1	ABHD15	HGNC	HGNC:26971	protein_coding	YES	CCDS32602.1	ENSP00000302657	Q6UXT9		UPI00001C1FC9	NM_198147.2			1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR10794:SF39,hmmpanther:PTHR10794																	LOW	1	SNV	1			1										PASS		rs1448924957	.												G	2	3	39	29566706	29566706	C	G	1	0	0	0	0	0	0	0	1	85	697	25	4		4	ABHD15	17	29566706	Silent	SNP	C	C3N-00175_TP	272910	29566706	53690735	1132	11282											
CORO6	0	.	GRCh38	chr17	29615827	29615827	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcggagggccttgatctCttccagcagcgtctccaggg	5	9	13	14	3	2	1	0	1	2	0	6	2	3	2	3	3	2	1	3	3	0	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1324G>T	p.Glu442Ter	p.E442*	ENST00000345068	11/11	117	111	6	128	128	0	strelka-varscan-mutect	CORO6,stop_gained,p.Glu442Ter,ENST00000345068,;CORO6,stop_gained,p.Glu442Ter,ENST00000388767,NM_032854.3;CORO6,stop_gained,p.Glu402Ter,ENST00000580212,;CORO6,stop_gained,p.Glu441Ter,ENST00000584969,;ANKRD13B,downstream_gene_variant,,ENST00000394859,NM_152345.4;ANKRD13B,downstream_gene_variant,,ENST00000614878,;CORO6,downstream_gene_variant,,ENST00000492276,;CORO6,downstream_gene_variant,,ENST00000584602,;ANKRD13B,downstream_gene_variant,,ENST00000579719,;ABHD15-AS1,intron_variant,,ENST00000581474,;CORO6,downstream_gene_variant,,ENST00000577909,;CORO6,3_prime_UTR_variant,,ENST00000480954,;CORO6,non_coding_transcript_exon_variant,,ENST00000459686,;CORO6,non_coding_transcript_exon_variant,,ENST00000467534,;CORO6,non_coding_transcript_exon_variant,,ENST00000469090,;CORO6,non_coding_transcript_exon_variant,,ENST00000579388,;ANKRD13B,downstream_gene_variant,,ENST00000487527,;ANKRD13B,downstream_gene_variant,,ENST00000488766,;ANKRD13B,downstream_gene_variant,,ENST00000493506,;	A	ENST00000345068	Transcript	stop_gained	1538/2603	1324/1419	442/472	E/*	Gag/Tag		1		-1	CORO6	HGNC	HGNC:21356	protein_coding	YES	CCDS11252.2	ENSP00000344562	Q6QEF8		UPI0000DA4C55				11/11		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF23																	HIGH		SNV	5			1										PASS		.	.												A	4	1	39	29615827	29615827	C	A	1	0	0	0	0	0	1	0	0	3552	922	32	2		2	CORO6	17	29615827	Nonsense_Mutation	SNP	C	C3N-00175_TP	49121	29615827	53641614	1133	11283											
SSH2	0	.	GRCh38	chr17	29632478	29632478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgatgctcttgctcctGccgtaagcgctcttcgaact	7	12	8	14	3	2	1	0	1	2	0	4	2	3	1	3	0	5	4	3	0	2	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2716C>A	p.Gln906Lys	p.Q906K	ENST00000540801	16/16	264	154	110	276	276	0	strelka-varscan-mutect	SSH2,missense_variant,p.Gln879Lys,ENST00000269033,NM_033389.3;SSH2,missense_variant,p.Gln906Lys,ENST00000540801,NM_001282129.1;SSH2,upstream_gene_variant,,ENST00000577991,;ABHD15-AS1,intron_variant,,ENST00000581474,;	T	ENST00000540801	Transcript	missense_variant	2809/4538	2716/4353	906/1450	Q/K	Cag/Aag		1		-1	SSH2	HGNC	HGNC:30580	protein_coding	YES	CCDS74024.1	ENSP00000444743		F5H527	UPI0002065A97	NM_001282129.1	deleterious_low_confidence(0)		16/16		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	29632478	29632478	G	T	1	0	0	0	0	1	0	0	0	15561	1328	46	2		2	SSH2	17	29632478	Missense_Mutation	SNP	G	C3N-00175_TP	16651	29632478	53624963	1134	11284											
NSRP1	0	.	GRCh38	chr17	30185210	30185210	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgatcagaaccgacccAgtgagaaaggagagaaggaa	20	3	12	6	1	1	4	1	2	0	3	1	9	1	6	2	2	1	0	2	2	6	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1213A>T	p.Ser405Cys	p.S405C	ENST00000247026	7/7	172	142	30	175	175	0	strelka-varscan-mutect	NSRP1,missense_variant,p.Ser405Cys,ENST00000247026,NM_032141.3;NSRP1,missense_variant,p.Ser351Cys,ENST00000612959,NM_001261467.1;NSRP1,downstream_gene_variant,,ENST00000580103,;NSRP1,non_coding_transcript_exon_variant,,ENST00000540900,;NSRP1,downstream_gene_variant,,ENST00000577289,;NSRP1,3_prime_UTR_variant,,ENST00000394826,;NSRP1,downstream_gene_variant,,ENST00000475652,;	T	ENST00000247026	Transcript	missense_variant	1276/2541	1213/1677	405/558	S/C	Agt/Tgt		1		1	NSRP1	HGNC	HGNC:25305	protein_coding	YES	CCDS11255.1	ENSP00000247026	Q9H0G5		UPI000006E653	NM_032141.3	deleterious(0)		7/7		hmmpanther:PTHR31938																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	30185210	30185210	A	T	1	0	0	0	0	1	0	0	0	10740	188	7	4		4	NSRP1	17	30185210	Missense_Mutation	SNP	A	C3N-00175_TP	552732	30185210	53072231	1135	11285											
RAB11FIP4	0	.	GRCh38	chr17	31531625	31531625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccttcagctaatggaaGccctgaaggagcaggaggag	12	8	13	8	0	1	1	1	1	0	0	2	5	2	5	2	4	3	2	2	4	3	3			C3N-00175_TP	C3N-00175_NB	G	G																c.1807G>T	p.Ala603Ser	p.A603S	ENST00000621161	15/15	137	81	56	140	140	0	strelka-varscan-mutect	RAB11FIP4,missense_variant,p.Ala603Ser,ENST00000621161,NM_032932.5;RAB11FIP4,missense_variant,p.Ala501Ser,ENST00000394744,NM_001303542.2;RAB11FIP4,upstream_gene_variant,,ENST00000579485,;RAB11FIP4,non_coding_transcript_exon_variant,,ENST00000578148,;RP1-41C23.2,downstream_gene_variant,,ENST00000624452,;RAB11FIP4,downstream_gene_variant,,ENST00000585058,;RAB11FIP4,downstream_gene_variant,,ENST00000581460,;	T	ENST00000621161	Transcript	missense_variant	2036/8628	1807/1914	603/637	A/S	Gcc/Tcc	COSM4890616	1		1	RAB11FIP4	HGNC	HGNC:30267	protein_coding	YES	CCDS11267.1	ENSP00000482620	Q86YS3		UPI000000D857	NM_032932.5	deleterious(0)		15/15		PROSITE_profiles:PS51511,hmmpanther:PTHR15726,hmmpanther:PTHR15726:SF5,Pfam_domain:PF09457,Superfamily_domains:SSF144270											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	39	31531625	31531625	G	T	1	0	0	0	0	1	0	0	0	13054	971	34	2		2	RAB11FIP4	17	31531625	Missense_Mutation	SNP	G	C3N-00175_TP	1346415	31531625	51725816	1136	11286											
CCT6B	0	.	GRCh38	chr17	34961330	34961330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggcggcgcatatattgaCagccaaagctgcccgggccc	8	6	13	14	4	0	1	0	1	0	0	1	1	0	1	3	3	3	2	3	3	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.64G>T	p.Val22Phe	p.V22F	ENST00000314144	1/14	98	86	12	101	101	0	strelka-varscan-mutect	CCT6B,missense_variant,p.Val22Phe,ENST00000314144,NM_006584.3;CCT6B,missense_variant,p.Val22Phe,ENST00000421975,NM_001193529.2;CCT6B,missense_variant,p.Val22Phe,ENST00000436961,NM_001193530.1;CCT6B,intron_variant,,ENST00000585073,;ZNF830,upstream_gene_variant,,ENST00000361952,NM_052857.3;ZNF830,upstream_gene_variant,,ENST00000578339,;	A	ENST00000314144	Transcript	missense_variant	180/1838	64/1593	22/530	V/F	Gtc/Ttc		1		-1	CCT6B	HGNC	HGNC:1621	protein_coding	YES	CCDS32617.1	ENSP00000327191	Q92526		UPI000013F740	NM_006584.3	deleterious(0.01)		1/14		Low_complexity_(Seg):seg,hmmpanther:PTHR11353:SF58,hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02347,Gene3D:1.10.560.10,Superfamily_domains:SSF48592																	MODERATE	1	SNV	1			1										PASS		rs948722321	.												A	3	1	39	34961330	34961330	C	A	1	0	0	0	0	1	0	0	0	2659	478	17	2		2	CCT6B	17	34961330	Missense_Mutation	SNP	C	C3N-00175_TP	3429705	34961330	48296111	1137	11287											
TAF15	0	.	GRCh38	chr17	35844522	35844522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaggggctacagaggtcGtgggggcagaggtggagacc	10	4	21	6	1	0	4	0	0	0	4	1	6	0	4	1	7	1	2	1	7	1	1	rs376580614		C3N-00175_TP	C3N-00175_NB	G	G																c.1223G>T	p.Arg408Leu	p.R408L	ENST00000605844	15/16	98	62	36	101	101	0	strelka-varscan-mutect	TAF15,missense_variant,p.Arg408Leu,ENST00000605844,NM_139215.2;TAF15,missense_variant,p.Arg405Leu,ENST00000604841,NM_003487.3;TAF15,missense_variant,p.Arg317Leu,ENST00000603777,;TAF15,missense_variant,p.Arg73Leu,ENST00000604694,;TAF15,upstream_gene_variant,,ENST00000603967,;TAF15,downstream_gene_variant,,ENST00000603393,;TAF15,downstream_gene_variant,,ENST00000603346,;	T	ENST00000605844	Transcript	missense_variant	1338/2191	1223/1779	408/592	R/L	cGt/cTt	rs376580614	1		1	TAF15	HGNC	HGNC:11547	protein_coding	YES	CCDS32623.1	ENSP00000474096	Q92804		UPI000013317D	NM_139215.2	tolerated_low_confidence(0.06)		15/16		hmmpanther:PTHR23238,hmmpanther:PTHR23238:SF25,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs376580614	.												T	3	4	39	35844522	35844522	G	T	1	0	0	0	0	1	0	0	0	15914	1145	40	1		1	TAF15	17	35844522	Missense_Mutation	SNP	G	C3N-00175_TP	883192	35844522	47412919	1138	11288											
MYO19	0	.	GRCh38	chr17	36528095	36528095	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcacaggattcaccctggtGaggtcatccagtttgtacag	9	11	11	10	0	3	1	3	1	0	0	4	2	4	2	2	3	1	2	2	3	1	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.120C>G	p.=	p.L40L	ENST00000614623	4/26	146	131	15	139	139	0	strelka-varscan-mutect	MYO19,synonymous_variant,p.=,ENST00000614623,NM_001163735.1;MYO19,synonymous_variant,p.=,ENST00000610930,NM_025109.5;MYO19,synonymous_variant,p.=,ENST00000621344,NM_001033580.2;MYO19,synonymous_variant,p.=,ENST00000616159,;MYO19,synonymous_variant,p.=,ENST00000622055,;MYO19,synonymous_variant,p.=,ENST00000616207,;MYO19,synonymous_variant,p.=,ENST00000613551,;MYO19,intron_variant,,ENST00000620640,;MYO19,downstream_gene_variant,,ENST00000620644,;MYO19,synonymous_variant,p.=,ENST00000610992,;MYO19,synonymous_variant,p.=,ENST00000621550,;	C	ENST00000614623	Transcript	synonymous_variant	643/4054	120/2913	40/970	L	ctC/ctG		1		-1	MYO19	HGNC	HGNC:26234	protein_coding	YES	CCDS54112.1	ENSP00000479518	Q96H55		UPI000173AA19	NM_001163735.1			4/26		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF289,SMART_domains:SM00242,Superfamily_domains:SSF52540																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	39	36528095	36528095	G	C	1	0	0	0	0	0	0	0	1	10068	1277	45	4		4	MYO19	17	36528095	Silent	SNP	G	C3N-00175_TP	683573	36528095	46729346	1139	11289											
STAC2	0	.	GRCh38	chr17	39217931	39217931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacatgttcctggaagctGtgcagcctcactggtttgag	9	11	12	9	0	1	2	1	1	0	1	2	3	2	3	2	2	3	4	2	2	2	2	rs138657621		C3N-00175_TP	C3N-00175_NB	G	G																c.333C>A	p.His111Gln	p.H111Q	ENST00000333461	2/11	240	200	40	236	236	0	strelka-varscan-mutect	STAC2,missense_variant,p.His111Gln,ENST00000333461,NM_198993.3;STAC2,intron_variant,,ENST00000584501,;	T	ENST00000333461	Transcript	missense_variant	703/3362	333/1236	111/411	H/Q	caC/caA	rs138657621	1		-1	STAC2	HGNC	HGNC:23990	protein_coding	YES	CCDS11335.1	ENSP00000327509	Q6ZMT1	D0IN09	UPI0000223E4D	NM_198993.3	deleterious(0.02)		2/11		Gene3D:3.30.60.20,Pfam_domain:PF00130,PROSITE_patterns:PS00479,PROSITE_profiles:PS50081,hmmpanther:PTHR15135,hmmpanther:PTHR15135:SF5,SMART_domains:SM00109,Superfamily_domains:SSF57889																	MODERATE	1	SNV	1			1										PASS		rs138657621	.												T	3	4	39	39217931	39217931	G	T	1	0	0	0	0	1	0	0	0	15618	1368	48	2		2	STAC2	17	39217931	Missense_Mutation	SNP	G	C3N-00175_TP	2689836	39217931	44039510	1140	11290											
PNMT	0	.	GRCh38	chr17	39670119	39670119	+	Missense_Mutation	SNP	C	C	A																															gtgagcccagatcttgccagCtttcagcgggccctggacca																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.579C>A	p.Ser193Arg	p.S193R	ENST00000269582	3/3	280	260	20	278	277	1	strelka-varscan-mutect	PNMT,missense_variant,p.Ser193Arg,ENST00000269582,NM_002686.4;PNMT,missense_variant,p.Ser95Arg,ENST00000394246,;PGAP3,downstream_gene_variant,,ENST00000300658,NM_033419.4;PGAP3,downstream_gene_variant,,ENST00000378011,NM_001291726.1;PGAP3,downstream_gene_variant,,ENST00000579146,NM_001291733.1;TCAP,downstream_gene_variant,,ENST00000309889,NM_003673.3;PGAP3,downstream_gene_variant,,ENST00000619169,;PGAP3,downstream_gene_variant,,ENST00000429199,NM_001291728.1;PNMT,downstream_gene_variant,,ENST00000581428,;TCAP,downstream_gene_variant,,ENST00000578283,;PGAP3,downstream_gene_variant,,ENST00000309862,;PGAP3,downstream_gene_variant,,ENST00000584620,;PGAP3,downstream_gene_variant,,ENST00000577337,;PGAP3,downstream_gene_variant,,ENST00000580898,;PGAP3,downstream_gene_variant,,ENST00000582276,;	A	ENST00000269582	Transcript	missense_variant	897/1253	579/849	193/282	S/R	agC/agA		1		1	PNMT	HGNC	HGNC:9160	protein_coding	YES	CCDS11343.1	ENSP00000269582	P11086		UPI0000111BE4	NM_002686.4	deleterious(0)		3/3		PROSITE_profiles:PS51681,hmmpanther:PTHR10867,hmmpanther:PTHR10867:SF18,Gene3D:3.40.50.150,PIRSF_domain:PIRSF000384,Pfam_domain:PF01234,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	39670119	39670119	C	A	1	0	0	0	0	1	0	0	0	12267	796	28	2		2	PNMT	17	39670119	Missense_Mutation	SNP	C	C3N-00175_TP	452188	39670119	43587322	1141	11291	257	2									
PNMT	0	.	GRCh38	chr17	39670123	39670123	+	Missense_Mutation	SNP	C	C	A																															gcccagatcttgccagctttCagcgggccctggaccacatc																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.583C>A	p.Gln195Lys	p.Q195K	ENST00000269582	3/3	275	257	18	281	280	1	strelka-varscan-mutect	PNMT,missense_variant,p.Gln195Lys,ENST00000269582,NM_002686.4;PNMT,missense_variant,p.Gln97Lys,ENST00000394246,;PGAP3,downstream_gene_variant,,ENST00000300658,NM_033419.4;PGAP3,downstream_gene_variant,,ENST00000378011,NM_001291726.1;PGAP3,downstream_gene_variant,,ENST00000579146,NM_001291733.1;TCAP,downstream_gene_variant,,ENST00000309889,NM_003673.3;PGAP3,downstream_gene_variant,,ENST00000619169,;PGAP3,downstream_gene_variant,,ENST00000429199,NM_001291728.1;PNMT,downstream_gene_variant,,ENST00000581428,;TCAP,downstream_gene_variant,,ENST00000578283,;PGAP3,downstream_gene_variant,,ENST00000309862,;PGAP3,downstream_gene_variant,,ENST00000584620,;PGAP3,downstream_gene_variant,,ENST00000577337,;PGAP3,downstream_gene_variant,,ENST00000580898,;PGAP3,downstream_gene_variant,,ENST00000582276,;	A	ENST00000269582	Transcript	missense_variant	901/1253	583/849	195/282	Q/K	Cag/Aag		1		1	PNMT	HGNC	HGNC:9160	protein_coding	YES	CCDS11343.1	ENSP00000269582	P11086		UPI0000111BE4	NM_002686.4	tolerated(0.31)		3/3		PROSITE_profiles:PS51681,hmmpanther:PTHR10867,hmmpanther:PTHR10867:SF18,Gene3D:3.40.50.150,PIRSF_domain:PIRSF000384,Pfam_domain:PF01234,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	39670123	39670123	C	A	1	0	0	0	0	1	0	0	0	12267	827	29	2		2	PNMT	17	39670123	Missense_Mutation	SNP	C	C3N-00175_TP	4	39670123	43587318	1142	11292	257	2									
KRTAP4-9	0	.	GRCh38	chr17	41105495	41105495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagaccacctgctgcaGgaccacctgctgccgcccca	7	6	10	18	1	0	1	0	1	0	1	0	3	0	2	7	1	4	3	7	1	0	0			C3N-00175_TP	C3N-00175_NB	G	G																c.107G>T	p.Arg36Met	p.R36M	ENST00000391415	1/1	345	214	131	324	324	0	strelka-varscan-mutect	KRTAP4-9,missense_variant,p.Arg36Met,ENST00000391415,NM_001146041.1;KRTAP4-9,missense_variant,p.Arg36Met,ENST00000617453,;KRTAP4-7,intron_variant,,ENST00000612231,;KRTAP4-16,upstream_gene_variant,,ENST00000440582,;	T	ENST00000391415	Transcript	missense_variant	164/1157	107/633	36/210	R/M	aGg/aTg	COSM3517232	1		1	KRTAP4-9	HGNC	HGNC:18910	protein_coding	YES	CCDS54124.1	ENSP00000375234	Q9BYQ8		UPI000021D2D3	NM_001146041.1	deleterious(0)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF1,Pfam_domain:PF01500											1						MODERATE	1	SNV			1	1										PASS		rs1265504276	.												T	3	4	39	41105495	41105495	G	T	1	0	0	0	0	1	0	0	0	8452	1000	35	2		2	KRTAP4-9	17	41105495	Missense_Mutation	SNP	G	C3N-00175_TP	1435372	41105495	42151946	1143	11293											
KRTAP4-6	0	.	GRCh38	chr17	41140397	41140397	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagcaggtggtcctgcAgcaggtggtctgacagcagc	7	6	17	11	1	1	1	0	1	1	0	2	1	2	1	1	5	5	5	1	5	0	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.91T>A	p.Cys31Ser	p.C31S	ENST00000345847	1/1	351	299	52	299	299	0	strelka-varscan-mutect	KRTAP4-6,missense_variant,p.Cys31Ser,ENST00000345847,NM_030976.1;	T	ENST00000345847	Transcript	missense_variant	91/1055	91/618	31/205	C/S	Tgc/Agc		1		-1	KRTAP4-6	HGNC	HGNC:18909	protein_coding	YES	CCDS54125.1	ENSP00000328270	Q9BYQ5		UPI00006C17B9	NM_030976.1	deleterious(0.03)		1/1		Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF60,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		rs1322824012	.												T	3	4	39	41140397	41140397	A	T	1	0	0	0	0	1	0	0	0	8449	188	7	4		4	KRTAP4-6	17	41140397	Missense_Mutation	SNP	A	C3N-00175_TP	34902	41140397	42117044	1144	11294											
KRTAP9-4	0	.	GRCh38	chr17	41250181	41250181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtcagcctttttgctGctgatcaagtcccaagagaa	9	12	9	11	0	2	2	2	1	0	1	3	3	3	2	2	0	4	3	2	0	3	2	rs751541274		C3N-00175_TP	C3N-00175_NB	G	G																c.461G>T	p.Cys154Phe	p.C154F	ENST00000334109	1/1	240	145	95	217	216	1	strelka-varscan-mutect	KRTAP9-4,missense_variant,p.Cys154Phe,ENST00000334109,NM_033191.2;	T	ENST00000334109	Transcript	missense_variant	495/967	461/465	154/154	C/F	tGc/tTc	rs751541274	1		1	KRTAP9-4	HGNC	HGNC:18902	protein_coding	YES	CCDS11386.1	ENSP00000334922	Q9BYQ2		UPI000013F6DA	NM_033191.2	deleterious(0)		1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF65,Pfam_domain:PF13885																	MODERATE	1	SNV				1										PASS		rs751541274	.												T	3	4	39	41250181	41250181	G	T	1	0	0	0	0	1	0	0	0	8472	1319	46	2		2	KRTAP9-4	17	41250181	Missense_Mutation	SNP	G	C3N-00175_TP	109784	41250181	42007260	1145	11295											
KRTAP9-7	0	.	GRCh38	chr17	41275926	41275926	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccagccttcctgctgcAgcacaccctgctgccagccc	5	7	9	20	0	0	0	0	0	0	0	1	0	1	0	6	0	8	5	6	0	0	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.229A>G	p.Ser77Gly	p.S77G	ENST00000391354	1/1	419	281	138	390	390	0	strelka-varscan-mutect	KRTAP9-7,missense_variant,p.Ser77Gly,ENST00000391354,NM_001277332.1;KRTAP9-11P,downstream_gene_variant,,ENST00000431013,;KRTAP9-10P,upstream_gene_variant,,ENST00000435672,;	G	ENST00000391354	Transcript	missense_variant	268/1039	229/510	77/169	S/G	Agc/Ggc		1		1	KRTAP9-7	HGNC	HGNC:18915	protein_coding	YES	CCDS59287.1	ENSP00000375149	A8MTY7		UPI0000DD83F7	NM_001277332.1	tolerated(0.37)		1/1		Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF56,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		rs1260108062	.												G	3	3	39	41275926	41275926	A	G	1	0	0	0	0	1	0	0	0	8474	188	7	5		5	KRTAP9-7	17	41275926	Missense_Mutation	SNP	A	C3N-00175_TP	25745	41275926	41981515	1146	11296											
KRT13	0	.	GRCh38	chr17	41505106	41505106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaggggctgtagtcccgctCagggctagctgggctctgct	4	10	16	11	1	2	0	1	0	1	0	3	0	3	0	1	4	2	8	1	4	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.445G>A	p.Glu149Lys	p.E149K	ENST00000246635	1/8	219	186	33	205	205	0	strelka-varscan-mutect	KRT13,missense_variant,p.Glu149Lys,ENST00000246635,NM_153490.2;KRT13,missense_variant,p.Glu149Lys,ENST00000336861,NM_002274.3;KRT13,missense_variant,p.Glu149Lys,ENST00000587544,;KRT13,missense_variant,p.Glu42Lys,ENST00000590425,;KRT13,intron_variant,,ENST00000587435,;AC019349.5,downstream_gene_variant,,ENST00000411759,;KRT13,upstream_gene_variant,,ENST00000587118,;KRT13,upstream_gene_variant,,ENST00000475217,;KRT13,3_prime_UTR_variant,,ENST00000464634,;KRT13,non_coding_transcript_exon_variant,,ENST00000468313,;	T	ENST00000246635	Transcript	missense_variant	492/1699	445/1377	149/458	E/K	Gag/Aag		1		-1	KRT13	HGNC	HGNC:6415	protein_coding	YES	CCDS11396.1	ENSP00000246635	P13646		UPI000013CBF6	NM_153490.2	tolerated(0.68)		1/8		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF121,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	41505106	41505106	C	T	1	0	0	0	0	1	0	0	0	8332	835	29	3		3	KRT13	17	41505106	Missense_Mutation	SNP	C	C3N-00175_TP	229180	41505106	41752335	1147	11297											
ACLY	0	.	GRCh38	chr17	41867819	41867819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctggctctgttacatgctCatgtgttccggaagaacata	9	13	9	10	1	2	1	1	0	1	1	4	2	4	2	2	2	3	4	2	2	4	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3297G>C	p.Met1099Ile	p.M1099I	ENST00000352035	29/29	145	136	9	99	99	0	strelka-varscan-mutect	ACLY,missense_variant,p.Met1099Ile,ENST00000352035,NM_001303274.1,NM_001096.2;ACLY,missense_variant,p.Met1089Ile,ENST00000353196,NM_001303275.1,NM_198830.1;ACLY,missense_variant,p.Met1099Ile,ENST00000590151,;ACLY,missense_variant,p.Met1089Ile,ENST00000393896,;ACLY,missense_variant,p.Met828Ile,ENST00000537919,;KLHL11,upstream_gene_variant,,ENST00000319121,NM_018143.2;RP11-229E13.4,downstream_gene_variant,,ENST00000619176,;ACLY,non_coding_transcript_exon_variant,,ENST00000588779,;	G	ENST00000352035	Transcript	missense_variant	3428/4339	3297/3306	1099/1101	M/I	atG/atC		1		-1	ACLY	HGNC	HGNC:115	protein_coding	YES	CCDS11412.1	ENSP00000253792	P53396	A0A024R1T9	UPI000013CDF3	NM_001303274.1,NM_001096.2	deleterious_low_confidence(0.03)		29/29		PIRSF_domain:PIRSF036511,hmmpanther:PTHR23118																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	41867819	41867819	C	G	1	0	0	0	0	1	0	0	0	185	826	29	4		4	ACLY	17	41867819	Missense_Mutation	SNP	C	C3N-00175_TP	362713	41867819	41389622	1148	11298											
CCR10	0	.	GRCh38	chr17	42679706	42679706	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggcggaagcgcaggcccagGaaggcgtagagaacgggatt	11	4	18	8	4	0	1	0	0	0	1	0	5	0	4	1	6	2	2	1	6	4	2	rs761722420		C3N-00175_TP	C3N-00175_NB	G	G																c.936C>T	p.=	p.F312F	ENST00000332438	2/2	46	38	8	40	40	0	strelka-varscan-mutect	CCR10,synonymous_variant,p.=,ENST00000591765,;CCR10,synonymous_variant,p.=,ENST00000332438,NM_016602.2;CNTNAP1,upstream_gene_variant,,ENST00000264638,NM_003632.2;PLEKHH3,upstream_gene_variant,,ENST00000293349,;PLEKHH3,upstream_gene_variant,,ENST00000591022,NM_024927.4;PLEKHH3,upstream_gene_variant,,ENST00000587627,;CCR10,downstream_gene_variant,,ENST00000591568,;CTD-3193K9.3,downstream_gene_variant,,ENST00000592440,;CTD-3193K9.4,upstream_gene_variant,,ENST00000593139,;PLEKHH3,upstream_gene_variant,,ENST00000456950,;PLEKHH3,upstream_gene_variant,,ENST00000591544,;CNTNAP1,upstream_gene_variant,,ENST00000591662,;PLEKHH3,upstream_gene_variant,,ENST00000591490,;PLEKHH3,upstream_gene_variant,,ENST00000591196,;	A	ENST00000332438	Transcript	synonymous_variant	956/1773	936/1089	312/362	F	ttC/ttT	rs761722420	1		-1	CCR10	HGNC	HGNC:4474	protein_coding	YES	CCDS11435.1	ENSP00000332504	P46092		UPI0000212EE9	NM_016602.2			2/2		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF726,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00657,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs761722420	.												A	2	1	39	42679706	42679706	G	A	1	0	0	0	0	0	0	0	1	2640	1165	41	3		3	CCR10	17	42679706	Silent	SNP	G	C3N-00175_TP	811887	42679706	40577735	1149	11299											
CD300LG	0	.	GRCh38	chr17	43857138	43857138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacacagaggaacgagaaGttctgcctctcacgcttggt	11	8	12	10	2	2	3	1	0	2	3	3	6	2	4	1	2	2	2	1	2	2	2			C3N-00175_TP	C3N-00175_NB	G	G																c.867G>T	p.Lys289Asn	p.K289N	ENST00000317310	6/7	262	168	94	254	254	0	strelka-varscan-mutect	CD300LG,missense_variant,p.Lys289Asn,ENST00000317310,NM_145273.3;CD300LG,missense_variant,p.Lys289Asn,ENST00000539718,NM_001168322.1;CD300LG,missense_variant,p.Lys255Asn,ENST00000377203,NM_001168323.1;CD300LG,missense_variant,p.Lys204Asn,ENST00000293396,NM_001168324.1;CD300LG,missense_variant,p.Lys204Asn,ENST00000586233,;CD300LG,downstream_gene_variant,,ENST00000589212,;	T	ENST00000317310	Transcript	missense_variant	908/2758	867/999	289/332	K/N	aaG/aaT	COSM979810	1		1	CD300LG	HGNC	HGNC:30455	protein_coding	YES	CCDS11470.1	ENSP00000321005	Q6UXG3		UPI000013E104	NM_145273.3	deleterious(0.04)		6/7		hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF22											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	39	43857138	43857138	G	T	1	0	0	0	0	1	0	0	0	2706	1020	36	2		2	CD300LG	17	43857138	Missense_Mutation	SNP	G	C3N-00175_TP	1177432	43857138	39400303	1150	11300											
ITGA2B	0	.	GRCh38	chr17	44380647	44380647	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagctcccacgatcaggtcTatagacatcgaggaatgggt	12	9	11	9	2	2	1	1	0	1	1	4	4	3	2	1	3	1	1	1	3	4	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1394-2A>G		p.X465_splice	ENST00000262407		685	430	255	706	706	0	strelka-varscan-mutect	ITGA2B,splice_acceptor_variant,,ENST00000262407,NM_000419.3;ITGA2B,upstream_gene_variant,,ENST00000587295,;ITGA2B,splice_acceptor_variant,,ENST00000592462,;ITGA2B,non_coding_transcript_exon_variant,,ENST00000592226,;ITGA2B,downstream_gene_variant,,ENST00000589645,;ITGA2B,downstream_gene_variant,,ENST00000591990,;ITGA2B,downstream_gene_variant,,ENST00000592944,;ITGA2B,downstream_gene_variant,,ENST00000592253,;ITGA2B,downstream_gene_variant,,ENST00000592075,;	C	ENST00000262407	Transcript	splice_acceptor_variant	-/3333	1394/3120	465/1039				1		-1	ITGA2B	HGNC	HGNC:6138	protein_coding	YES	CCDS32665.1	ENSP00000262407	P08514		UPI00001868B8	NM_000419.3				13/29																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	39	44380647	44380647	T	C	1	0	0	0	0	0	0	1	0	7783	1536	53	5		5	ITGA2B	17	44380647	Splice_Site	SNP	T	C3N-00175_TP	523509	44380647	38876794	1151	11301											
GPATCH8	0	.	GRCh38	chr17	44401218	44401218	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccagattattcttaaTgccaaagctgatgccttggg	9	12	10	10	0	1	2	0	1	1	1	2	2	2	2	4	2	3	1	4	2	3	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.859A>G	p.Ile287Val	p.I287V	ENST00000591680	8/8	244	157	87	172	172	0	strelka-varscan-mutect	GPATCH8,missense_variant,p.Ile287Val,ENST00000591680,NM_001304939.1,NM_001002909.3;GPATCH8,downstream_gene_variant,,ENST00000585614,;GPATCH8,3_prime_UTR_variant,,ENST00000587228,;GPATCH8,non_coding_transcript_exon_variant,,ENST00000335500,;GPATCH8,non_coding_transcript_exon_variant,,ENST00000635257,;GPATCH8,downstream_gene_variant,,ENST00000590041,;	C	ENST00000591680	Transcript	missense_variant	890/4692	859/4509	287/1502	I/V	Att/Gtt		1		-1	GPATCH8	HGNC	HGNC:29066	protein_coding	YES	CCDS32666.1	ENSP00000467556	Q9UKJ3		UPI0000237985	NM_001304939.1,NM_001002909.3	tolerated(0.25)		8/8		hmmpanther:PTHR17614:SF11,hmmpanther:PTHR17614																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	39	44401218	44401218	T	C	1	0	0	0	0	1	0	0	0	6495	1464	51	5		5	GPATCH8	17	44401218	Missense_Mutation	SNP	T	C3N-00175_TP	20571	44401218	38856223	1152	11302											
GPATCH8	0	.	GRCh38	chr17	44464508	44464508	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatccctggcccagcttccAcccatgtttctggagtaagc	8	10	8	15	0	1	0	0	0	1	0	3	1	3	1	4	2	2	3	4	2	2	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.157T>A	p.Trp53Arg	p.W53R	ENST00000591680	3/8	475	309	166	389	389	0	strelka-varscan-mutect	GPATCH8,missense_variant,p.Trp53Arg,ENST00000591680,NM_001304939.1,NM_001002909.3;GPATCH8,missense_variant,p.Trp28Arg,ENST00000585614,;GPATCH8,3_prime_UTR_variant,,ENST00000587228,;GPATCH8,3_prime_UTR_variant,,ENST00000590041,;GPATCH8,3_prime_UTR_variant,,ENST00000592746,;GPATCH8,3_prime_UTR_variant,,ENST00000586037,;GPATCH8,non_coding_transcript_exon_variant,,ENST00000335500,;	T	ENST00000591680	Transcript	missense_variant	188/4692	157/4509	53/1502	W/R	Tgg/Agg		1		-1	GPATCH8	HGNC	HGNC:29066	protein_coding	YES	CCDS32666.1	ENSP00000467556	Q9UKJ3		UPI0000237985	NM_001304939.1,NM_001002909.3	deleterious_low_confidence(0)		3/8		Low_complexity_(Seg):seg,PROSITE_profiles:PS50174,hmmpanther:PTHR17614:SF11,hmmpanther:PTHR17614,Pfam_domain:PF01585,SMART_domains:SM00443																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	44464508	44464508	A	T	1	0	0	0	0	1	0	0	0	6495	159	6	4		4	GPATCH8	17	44464508	Missense_Mutation	SNP	A	C3N-00175_TP	63290	44464508	38792933	1153	11303											
CDC27	0	.	GRCh38	chr17	47157001	47157001	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgtttagataatatggAagttcctgttcccagtggga	11	13	10	7	0	0	1	0	0	0	1	2	3	2	3	3	2	1	3	3	2	5	6	rs200148949		C3N-00175_TP	C3N-00175_NB	A	A																c.754T>A	p.Ser252Thr	p.S252T	ENST00000531206	7/19	80	73	7	91	90	1	varscan-mutect	CDC27,missense_variant,p.Ser252Thr,ENST00000066544,NM_001293091.1,NM_001256.4;CDC27,missense_variant,p.Ser252Thr,ENST00000531206,NM_001114091.2;CDC27,missense_variant,p.Ser252Thr,ENST00000527547,NM_001293089.1;CDC27,intron_variant,,ENST00000575483,;RP5-867C24.4,downstream_gene_variant,,ENST00000574021,;CDC27,downstream_gene_variant,,ENST00000528748,;CDC27,downstream_gene_variant,,ENST00000532575,;CDC27,upstream_gene_variant,,ENST00000575830,;CDC27,missense_variant,p.Ser252Thr,ENST00000526866,;CDC27,missense_variant,p.Ser55Thr,ENST00000576484,;CDC27,3_prime_UTR_variant,,ENST00000533415,;CDC27,3_prime_UTR_variant,,ENST00000570818,;CDC27,non_coding_transcript_exon_variant,,ENST00000525495,;CDC27,intron_variant,,ENST00000573550,;CDC27,intron_variant,,ENST00000574304,;CDC27,downstream_gene_variant,,ENST00000532893,;RP5-867C24.1,downstream_gene_variant,,ENST00000488906,;	T	ENST00000531206	Transcript	missense_variant	758/3177	754/2493	252/830	S/T	Tcc/Acc	rs200148949	1		-1	CDC27	HGNC	HGNC:1728	protein_coding	YES	CCDS45720.1	ENSP00000434614	P30260		UPI0000E59FE6	NM_001114091.2	tolerated(0.14)		7/19																			MODERATE	1	SNV	1			1										PASS		rs200148949	.												T	3	4	39	47157001	47157001	A	T	1	0	0	0	0	1	0	0	0	2769	246	9	4		4	CDC27	17	47157001	Missense_Mutation	SNP	A	C3N-00175_TP	2692493	47157001	36100440	1154	11304											
TBX21	0	.	GRCh38	chr17	47744970	47744970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtttcgagcagtcagcatGaagcctgcattcttgccctc	8	11	10	12	1	2	1	1	1	1	0	4	3	2	1	2	0	5	4	2	0	1	3			C3N-00175_TP	C3N-00175_NB	G	G																c.1212G>A	p.Met404Ile	p.M404I	ENST00000177694	6/6	316	297	19	340	340	0	strelka-varscan-mutect	TBX21,missense_variant,p.Met404Ile,ENST00000177694,NM_013351.1;TBX21,downstream_gene_variant,,ENST00000581328,;	A	ENST00000177694	Transcript	missense_variant	1423/2572	1212/1608	404/535	M/I	atG/atA	COSM5204040	1		1	TBX21	HGNC	HGNC:11599	protein_coding	YES	CCDS11514.1	ENSP00000177694	Q9UL17		UPI0000001C88	NM_013351.1	tolerated(0.08)		6/6		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF125											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	39	47744970	47744970	G	A	1	0	0	0	0	1	0	0	0	16062	1290	45	3		3	TBX21	17	47744970	Missense_Mutation	SNP	G	C3N-00175_TP	587969	47744970	35512471	1155	11305											
OSBPL7	0	.	GRCh38	chr17	47808343	47808343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctggctcggcccgcagcCtccagtaggtattgttggtc	5	10	13	13	2	0	0	0	0	0	0	3	0	1	0	4	4	2	5	4	4	2	4	rs774434828		C3N-00175_TP	C3N-00175_NB	C	C																c.2477G>T	p.Arg826Met	p.R826M	ENST00000007414	23/23	214	123	91	202	202	0	strelka-varscan-mutect	OSBPL7,missense_variant,p.Arg826Met,ENST00000007414,NM_145798.2;OSBPL7,missense_variant,p.Arg826Met,ENST00000392507,;OSBPL7,3_prime_UTR_variant,,ENST00000613735,;OSBPL7,3_prime_UTR_variant,,ENST00000579728,;OSBPL7,3_prime_UTR_variant,,ENST00000578461,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000583167,;	A	ENST00000007414	Transcript	missense_variant	2669/3640	2477/2529	826/842	R/M	aGg/aTg	rs774434828	1		-1	OSBPL7	HGNC	HGNC:16387	protein_coding	YES	CCDS11515.1	ENSP00000007414	Q9BZF2		UPI0000130E98	NM_145798.2	deleterious(0.03)		23/23		hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF85,Superfamily_domains:0051579																	MODERATE	1	SNV	1			1										PASS		rs774434828	.												A	3	1	39	47808343	47808343	C	A	1	0	0	0	0	1	0	0	0	11348	681	24	2		2	OSBPL7	17	47808343	Missense_Mutation	SNP	C	C3N-00175_TP	63373	47808343	35449098	1156	11306											
OSBPL7	0	.	GRCh38	chr17	47808586	47808586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttttcctccatgactttgCgcctgtctcgctgcagctgc	3	15	9	14	2	1	1	0	1	1	0	4	1	3	1	3	0	4	4	3	0	0	3	rs201378531		C3N-00175_TP	C3N-00175_NB	C	C																c.2372G>T	p.Arg791Leu	p.R791L	ENST00000007414	22/23	177	112	65	178	177	1	strelka-varscan-mutect	OSBPL7,missense_variant,p.Arg791Leu,ENST00000007414,NM_145798.2;OSBPL7,missense_variant,p.Arg791Leu,ENST00000392507,;OSBPL7,3_prime_UTR_variant,,ENST00000613735,;OSBPL7,3_prime_UTR_variant,,ENST00000579728,;OSBPL7,3_prime_UTR_variant,,ENST00000578461,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000583167,;	A	ENST00000007414	Transcript	missense_variant	2564/3640	2372/2529	791/842	R/L	cGc/cTc	rs201378531	1		-1	OSBPL7	HGNC	HGNC:16387	protein_coding	YES	CCDS11515.1	ENSP00000007414	Q9BZF2		UPI0000130E98	NM_145798.2	deleterious(0)		22/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF85,Pfam_domain:PF01237,Superfamily_domains:0051579																	MODERATE	1	SNV	1			1										PASS		rs201378531	.												A	3	1	39	47808586	47808586	C	A	1	0	0	0	0	1	0	0	0	11348	768	27	1		1	OSBPL7	17	47808586	Missense_Mutation	SNP	C	C3N-00175_TP	243	47808586	35448855	1157	11307											
ABI3	0	.	GRCh38	chr17	49217857	49217857	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacctaccccctctcacgcCctactgcaggagacccctca	9	6	6	20	1	2	1	2	0	1	1	3	3	2	1	6	1	4	1	6	1	3	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.404C>A	p.Pro135His	p.P135H	ENST00000225941	3/8	129	103	26	121	121	0	strelka-varscan-mutect	ABI3,missense_variant,p.Pro135His,ENST00000225941,NM_016428.2;ABI3,missense_variant,p.Pro129His,ENST00000419580,NM_001135186.1;ABI3,upstream_gene_variant,,ENST00000571035,;ABI3,upstream_gene_variant,,ENST00000573347,;	A	ENST00000225941	Transcript	missense_variant	902/2109	404/1101	135/366	P/H	cCc/cAc		1		1	ABI3	HGNC	HGNC:29859	protein_coding	YES	CCDS11546.1	ENSP00000225941	Q9P2A4		UPI000013C888	NM_016428.2	tolerated(0.06)		3/8		hmmpanther:PTHR10460:SF7,hmmpanther:PTHR10460,Pfam_domain:PF07815																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	49217857	49217857	C	A	1	0	0	0	0	1	0	0	0	100	623	22	2		2	ABI3	17	49217857	Missense_Mutation	SNP	C	C3N-00175_TP	1409271	49217857	34039584	1158	11308											
SPATA20	0	.	GRCh38	chr17	50554426	50554426	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatggtccgcgccctctcAgcccagcagcagaccctcaa	9	5	10	17	2	2	2	2	0	1	2	4	3	3	2	4	1	3	2	4	1	1	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2133A>T	p.=	p.S711S	ENST00000006658	15/17	369	306	63	341	340	1	strelka-varscan-mutect	SPATA20,synonymous_variant,p.=,ENST00000619622,NM_001258373.1;SPATA20,synonymous_variant,p.=,ENST00000006658,NM_022827.3;SPATA20,synonymous_variant,p.=,ENST00000356488,NM_001258372.1;SPATA20,synonymous_variant,p.=,ENST00000634597,;CACNA1G-AS1,downstream_gene_variant,,ENST00000505793,;CACNA1G-AS1,downstream_gene_variant,,ENST00000505495,;CACNA1G-AS1,downstream_gene_variant,,ENST00000508920,;SPATA20,3_prime_UTR_variant,,ENST00000504334,;SPATA20,3_prime_UTR_variant,,ENST00000503127,;SPATA20,3_prime_UTR_variant,,ENST00000511937,;SPATA20,non_coding_transcript_exon_variant,,ENST00000503063,;SPATA20,downstream_gene_variant,,ENST00000635113,;SPATA20,downstream_gene_variant,,ENST00000505559,;SPATA20,downstream_gene_variant,,ENST00000512181,;SPATA20,downstream_gene_variant,,ENST00000511347,;SPATA20,downstream_gene_variant,,ENST00000505656,;SPATA20,downstream_gene_variant,,ENST00000504265,;SPATA20,downstream_gene_variant,,ENST00000515619,;SPATA20,downstream_gene_variant,,ENST00000504271,;SPATA20,downstream_gene_variant,,ENST00000513618,;SPATA20,downstream_gene_variant,,ENST00000508528,;	T	ENST00000006658	Transcript	synonymous_variant	2253/2719	2133/2409	711/802	S	tcA/tcT		1		1	SPATA20	HGNC	HGNC:26125	protein_coding	YES	CCDS11571.1	ENSP00000006658	Q8TB22		UPI000006CE23	NM_022827.3			15/17		PIRSF_domain:PIRSF006402,hmmpanther:PTHR12145,hmmpanther:PTHR12145:SF11																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	50554426	50554426	A	T	1	0	0	0	0	0	0	0	1	15336	175	7	4		4	SPATA20	17	50554426	Silent	SNP	A	C3N-00175_TP	1336569	50554426	32703015	1159	11309											
CACNA1G	0	.	GRCh38	chr17	50572038	50572038	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgagaatttcagcctGtgagtggtggacagggtcca	9	10	13	9	0	1	2	1	2	0	1	2	4	2	3	3	3	2	0	3	3	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.746+1G>A		p.X249_splice	ENST00000359106		87	73	14	56	56	0	strelka-varscan-mutect	CACNA1G,splice_donor_variant,,ENST00000354983,NM_198396.2;CACNA1G,splice_donor_variant,,ENST00000352832,NM_198387.2;CACNA1G,splice_donor_variant,,ENST00000359106,NM_018896.4;CACNA1G,splice_donor_variant,,ENST00000360761,NM_198382.2;CACNA1G,splice_donor_variant,,ENST00000442258,NM_198388.2;CACNA1G,splice_donor_variant,,ENST00000429973,NM_198386.2;CACNA1G,splice_donor_variant,,ENST00000507336,NM_198377.2;CACNA1G,splice_donor_variant,,ENST00000358244,NM_198376.2;CACNA1G,splice_donor_variant,,ENST00000507510,NM_198385.2;CACNA1G,splice_donor_variant,,ENST00000515765,NM_198380.2;CACNA1G,splice_donor_variant,,ENST00000515411,NM_001256324.1;CACNA1G,splice_donor_variant,,ENST00000502264,NM_198383.2;CACNA1G,splice_donor_variant,,ENST00000510115,NM_198379.2;CACNA1G,splice_donor_variant,,ENST00000514079,NM_001256325.1;CACNA1G,splice_donor_variant,,ENST00000513689,NM_001256326.1;CACNA1G,splice_donor_variant,,ENST00000515165,NM_198384.2;CACNA1G,splice_donor_variant,,ENST00000507609,NM_001256327.1;CACNA1G,splice_donor_variant,,ENST00000512389,NM_198378.2;CACNA1G,splice_donor_variant,,ENST00000514181,NM_001256328.1;CACNA1G,splice_donor_variant,,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,splice_donor_variant,,ENST00000513964,NM_001256360.1,NM_001256361.1,NM_001256330.1;CACNA1G,splice_donor_variant,,ENST00000510366,NM_001256331.1;CACNA1G,splice_donor_variant,,ENST00000514717,NM_001256332.1;CACNA1G,splice_donor_variant,,ENST00000505165,NM_001256333.1;CACNA1G,splice_donor_variant,,ENST00000507896,NM_001256334.1;CACNA1G,splice_donor_variant,,ENST00000416767,;CACNA1G,splice_donor_variant,,ENST00000570567,;CACNA1G,splice_donor_variant,,ENST00000506406,;CACNA1G,splice_donor_variant,,ENST00000504076,;CACNA1G,splice_donor_variant,,ENST00000511765,;CACNA1G,splice_donor_variant,,ENST00000503436,;CACNA1G,splice_donor_variant,,ENST00000511768,;CACNA1G,splice_donor_variant,,ENST00000503607,;	A	ENST00000359106	Transcript	splice_donor_variant	-/7648	746/7134	249/2377				1		1	CACNA1G	HGNC	HGNC:1394	protein_coding	YES	CCDS45730.1	ENSP00000352011	O43497		UPI000012727A	NM_018896.4				5/37																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	39	50572038	50572038	G	A	1	0	0	0	0	0	0	1	0	2232	1391	48	3		3	CACNA1G	17	50572038	Splice_Site	SNP	G	C3N-00175_TP	17612	50572038	32685403	1160	11310											
KIF2B	0	.	GRCh38	chr17	53824880	53824880	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatttcagggaagggatCtagccaatggctggaaaaca	15	7	11	8	0	2	0	1	0	1	0	2	3	2	3	1	4	2	1	1	4	6	2			C3N-00175_TP	C3N-00175_NB	C	C																c.1847C>A	p.Ser616Tyr	p.S616Y	ENST00000268919	1/1	140	107	33	133	133	0	strelka-varscan-mutect	KIF2B,missense_variant,p.Ser616Tyr,ENST00000268919,NM_032559.4;	A	ENST00000268919	Transcript	missense_variant	1980/2313	1847/2022	616/673	S/Y	tCt/tAt	COSM5013205	1		1	KIF2B	HGNC	HGNC:29443	protein_coding	YES	CCDS32685.1	ENSP00000268919	Q8N4N8	A0A140VKG5	UPI000013D7E6	NM_032559.4	deleterious(0)		1/1		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF524											1						MODERATE	1	SNV			1	1										PASS		rs1457271736	.												A	3	1	39	53824880	53824880	C	A	1	0	0	0	0	1	0	0	0	8163	913	32	2		2	KIF2B	17	53824880	Missense_Mutation	SNP	C	C3N-00175_TP	3252842	53824880	29432561	1161	11311											
TEX14	0	.	GRCh38	chr17	58599129	58599129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcattctcgtgcattattGtctgcataatctttagatcc	9	17	5	10	1	4	1	1	0	3	1	6	1	5	1	1	0	2	2	1	0	3	6	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2234C>A	p.Thr745Lys	p.T745K	ENST00000240361	14/33	440	369	71	399	398	1	strelka-varscan-mutect	TEX14,missense_variant,p.Thr739Lys,ENST00000389934,NM_198393.3;TEX14,missense_variant,p.Thr745Lys,ENST00000240361,NM_001201457.1;TEX14,missense_variant,p.Thr739Lys,ENST00000349033,NM_031272.4;TEX14,3_prime_UTR_variant,,ENST00000582740,;	T	ENST00000240361	Transcript	missense_variant	2320/4911	2234/4494	745/1497	T/K	aCa/aAa		1		-1	TEX14	HGNC	HGNC:11737	protein_coding	YES	CCDS56042.1	ENSP00000240361	Q8IWB6		UPI0000DAC9CA	NM_001201457.1	tolerated(0.05)		14/33		hmmpanther:PTHR23060																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	58599129	58599129	G	T	1	0	0	0	0	1	0	0	0	16200	1377	48	2		2	TEX14	17	58599129	Missense_Mutation	SNP	G	C3N-00175_TP	4774249	58599129	24658312	1162	11312											
TUBD1	0	.	GRCh38	chr17	59866648	59866648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctttcccacgaagaatgaCcaagttagcaatggaagtgt	14	10	9	8	1	1	2	0	1	1	1	2	4	2	3	2	1	1	2	2	1	6	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1036G>T	p.Val346Phe	p.V346F	ENST00000325752	7/9	170	111	59	161	161	0	strelka-varscan-mutect	TUBD1,missense_variant,p.Val346Phe,ENST00000325752,NM_016261.3;TUBD1,missense_variant,p.Val291Phe,ENST00000340993,NM_001193609.1,NM_001193612.1;TUBD1,missense_variant,p.Val346Phe,ENST00000394239,NM_001193610.1;TUBD1,missense_variant,p.Val92Phe,ENST00000346141,;TUBD1,missense_variant,p.Val346Phe,ENST00000592426,;TUBD1,missense_variant,p.Val130Phe,ENST00000539018,NM_001193613.1;TUBD1,intron_variant,,ENST00000613721,NM_001193611.1;TUBD1,intron_variant,,ENST00000376094,;TUBD1,3_prime_UTR_variant,,ENST00000591548,;TUBD1,3_prime_UTR_variant,,ENST00000593110,;TUBD1,non_coding_transcript_exon_variant,,ENST00000588009,;	A	ENST00000325752	Transcript	missense_variant	1324/2490	1036/1362	346/453	V/F	Gtc/Ttc		1		-1	TUBD1	HGNC	HGNC:16811	protein_coding	YES	CCDS11620.1	ENSP00000320797	Q9UJT1		UPI000013D7FA	NM_016261.3	tolerated(0.06)		7/9		hmmpanther:PTHR11588:SF4,hmmpanther:PTHR11588,Superfamily_domains:SSF55307																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	59866648	59866648	C	A	1	0	0	0	0	1	0	0	0	17272	507	18	2		2	TUBD1	17	59866648	Missense_Mutation	SNP	C	C3N-00175_TP	1267519	59866648	23390793	1163	11313											
TACO1	0	.	GRCh38	chr17	63604559	63604559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccccaaccctgagcacaaCagcaacctggccaatatctt	12	6	7	16	0	1	1	0	1	1	0	1	1	1	1	5	2	5	2	5	2	5	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.306C>G	p.Asn102Lys	p.N102K	ENST00000258975	2/5	537	336	201	446	446	0	strelka-varscan-mutect	TACO1,missense_variant,p.Asn102Lys,ENST00000258975,NM_016360.3;TACO1,non_coding_transcript_exon_variant,,ENST00000581120,;	G	ENST00000258975	Transcript	missense_variant	518/1469	306/894	102/297	N/K	aaC/aaG		1		1	TACO1	HGNC	HGNC:24316	protein_coding	YES	CCDS11640.1	ENSP00000258975	Q9BSH4		UPI0000042223	NM_016360.3	deleterious(0)		2/5		HAMAP:MF_00693,hmmpanther:PTHR12532:SF5,hmmpanther:PTHR12532,Pfam_domain:PF01709,Gene3D:1.10.10.200,Superfamily_domains:SSF75625																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	63604559	63604559	C	G	1	0	0	0	0	1	0	0	0	15900	477	17	4		4	TACO1	17	63604559	Missense_Mutation	SNP	C	C3N-00175_TP	3737911	63604559	19652882	1164	11314											
CEP95	0	.	GRCh38	chr17	64530981	64530981	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acataaagttcaagagaataTtggacctctaagaatacatg	18	10	7	6	0	2	2	1	0	1	2	2	4	2	3	1	1	1	1	1	1	8	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1502T>A	p.Ile501Asn	p.I501N	ENST00000556440	13/20	91	82	9	85	85	0	strelka-varscan-mutect	CEP95,missense_variant,p.Ile501Asn,ENST00000556440,NM_138363.1;CEP95,missense_variant,p.Ile436Asn,ENST00000553412,;CEP95,intron_variant,,ENST00000583457,;CEP95,non_coding_transcript_exon_variant,,ENST00000577476,;CEP95,3_prime_UTR_variant,,ENST00000553956,;CEP95,non_coding_transcript_exon_variant,,ENST00000579117,;CEP95,non_coding_transcript_exon_variant,,ENST00000584857,;CEP95,non_coding_transcript_exon_variant,,ENST00000579478,;CEP95,non_coding_transcript_exon_variant,,ENST00000579637,;CEP95,upstream_gene_variant,,ENST00000581885,;CEP95,upstream_gene_variant,,ENST00000580285,;CEP95,upstream_gene_variant,,ENST00000582698,;	A	ENST00000556440	Transcript	missense_variant	2012/3139	1502/2466	501/821	I/N	aTt/aAt		1		1	CEP95	HGNC	HGNC:25141	protein_coding	YES	CCDS45763.1	ENSP00000450461	Q96GE4		UPI000006F4B3	NM_138363.1	tolerated(0.08)		13/20		hmmpanther:PTHR22545,hmmpanther:PTHR22545:SF0																	MODERATE	1	SNV	1			1										PASS		rs1221751011	.												A	3	1	39	64530981	64530981	T	A	1	0	0	0	0	1	0	0	0	2988	1493	52	4		4	CEP95	17	64530981	Missense_Mutation	SNP	T	C3N-00175_TP	926422	64530981	18726460	1165	11315											
RGS9	0	.	GRCh38	chr17	65225359	65225359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaggtttctgagacgaGgctgtctggcctcacctgtc	6	11	12	12	1	4	1	2	1	2	1	5	3	4	1	2	3	1	3	2	3	0	1	rs201578421		C3N-00175_TP	C3N-00175_NB	G	G																c.1765G>T	p.Gly589Cys	p.G589C	ENST00000262406	18/19	439	289	150	339	339	0	strelka-varscan-mutect	RGS9,missense_variant,p.Gly586Cys,ENST00000449996,NM_001081955.2;RGS9,missense_variant,p.Gly589Cys,ENST00000262406,NM_003835.3;RGS9,missense_variant,p.Gly589Cys,ENST00000635833,;RGS9,missense_variant,p.Gly586Cys,ENST00000443584,NM_001165933.1;RGS9,3_prime_UTR_variant,,ENST00000584234,;RGS9,non_coding_transcript_exon_variant,,ENST00000577595,;	T	ENST00000262406	Transcript	missense_variant	1832/2375	1765/2025	589/674	G/C	Ggc/Tgc	rs201578421	1		1	RGS9	HGNC	HGNC:10004	protein_coding	YES	CCDS42373.1	ENSP00000262406	O75916		UPI000013382A	NM_003835.3	deleterious_low_confidence(0)		18/19		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF170																	MODERATE	1	SNV	1			1										PASS		rs201578421	.												T	3	4	39	65225359	65225359	G	T	1	0	0	0	0	1	0	0	0	13484	1000	35	2		2	RGS9	17	65225359	Missense_Mutation	SNP	G	C3N-00175_TP	694378	65225359	18032082	1166	11316											
ABCA6	0	.	GRCh38	chr17	69087377	69087377	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaagattgaagtggtcagAgcagtggctgttcttattct	9	15	11	6	0	4	3	1	1	3	2	4	3	4	3	0	2	1	3	0	2	3	5	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.3795T>A	p.=	p.A1265A	ENST00000284425	29/39	203	133	70	190	190	0	strelka-varscan-mutect	ABCA6,synonymous_variant,p.=,ENST00000284425,NM_080284.2;ABCA6,non_coding_transcript_exon_variant,,ENST00000446604,;ABCA6,non_coding_transcript_exon_variant,,ENST00000589482,;	T	ENST00000284425	Transcript	synonymous_variant	3970/5300	3795/4854	1265/1617	A	gcT/gcA		1		-1	ABCA6	HGNC	HGNC:36	protein_coding	YES	CCDS11683.1	ENSP00000284425	Q8N139		UPI000013DD9D	NM_080284.2			29/39		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF13																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	69087377	69087377	A	T	1	0	0	0	0	0	0	0	1	40	291	11	4		4	ABCA6	17	69087377	Silent	SNP	A	C3N-00175_TP	3862018	69087377	14170064	1167	11317											
SDK2	0	.	GRCh38	chr17	73438044	73438044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcacactcgtagtagccgGcgtcactgccggtggggttg	5	9	14	13	4	2	0	2	0	0	0	3	0	2	0	3	4	2	3	3	4	2	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.836C>A	p.Ala279Asp	p.A279D	ENST00000392650	7/45	199	103	96	190	190	0	strelka-varscan-mutect	SDK2,missense_variant,p.Ala279Asp,ENST00000392650,NM_001144952.1;SDK2,upstream_gene_variant,,ENST00000479356,;	T	ENST00000392650	Transcript	missense_variant	837/10723	836/6519	279/2172	A/D	gCc/gAc		1		-1	SDK2	HGNC	HGNC:19308	protein_coding	YES	CCDS45769.1	ENSP00000376421	Q58EX2		UPI0000E5A088	NM_001144952.1	deleterious(0.01)		7/45		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF37,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	73438044	73438044	G	T	1	0	0	0	0	1	0	0	0	14244	1203	42	2		2	SDK2	17	73438044	Missense_Mutation	SNP	G	C3N-00175_TP	4350667	73438044	9819397	1168	11318											
GPR142	0	.	GRCh38	chr17	74371991	74371991	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaccgctacactgccctGtgccaccccctgcaccatcg	6	8	8	19	2	0	1	0	1	0	0	1	1	0	1	6	0	4	3	6	0	1	2	rs762918019		C3N-00175_TP	C3N-00175_NB	G	G																c.780G>T	p.=	p.L260L	ENST00000335666	4/4	145	78	67	154	154	0	strelka-varscan-mutect	GPR142,synonymous_variant,p.=,ENST00000335666,NM_181790.1;GPR142,3_prime_UTR_variant,,ENST00000582579,;GPR142,downstream_gene_variant,,ENST00000585308,;	T	ENST00000335666	Transcript	synonymous_variant	828/1437	780/1389	260/462	L	ctG/ctT	rs762918019	1		1	GPR142	HGNC	HGNC:20088	protein_coding	YES	CCDS11698.1	ENSP00000335158	Q7Z601		UPI00001AA7F1	NM_181790.1			4/4		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR22751,hmmpanther:PTHR22751:SF48,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		rs762918019	.												T	2	4	39	74371991	74371991	G	T	1	0	0	0	0	0	0	0	1	6536	1364	48	2		2	GPR142	17	74371991	Silent	SNP	G	C3N-00175_TP	933947	74371991	8885450	1169	11319											
SLC9A3R1	0	.	GRCh38	chr17	74763420	74763420	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggacgtggtgtccgccatCagggctggcggggacgagac	6	5	20	10	4	1	1	1	0	0	1	2	4	2	3	2	7	0	1	2	7	0	0	rs147104235		C3N-00175_TP	C3N-00175_NB	C	C																c.657C>T	p.=	p.I219I	ENST00000262613	3/6	182	172	10	144	144	0	strelka-varscan-mutect	SLC9A3R1,synonymous_variant,p.=,ENST00000262613,NM_004252.4;SLC9A3R1,synonymous_variant,p.=,ENST00000413388,;SLC9A3R1,intron_variant,,ENST00000583369,;SLC9A3R1,non_coding_transcript_exon_variant,,ENST00000578958,;SLC9A3R1,upstream_gene_variant,,ENST00000581356,;	T	ENST00000262613	Transcript	synonymous_variant	852/1969	657/1077	219/358	I	atC/atT	rs147104235,COSM1522375	1		1	SLC9A3R1	HGNC	HGNC:11075	protein_coding	YES	CCDS11705.1	ENSP00000262613	O14745		UPI0000072521	NM_004252.4			3/6		Gene3D:2.30.42.10,Pfam_domain:PF00595,PIRSF_domain:PIRSF037866,PROSITE_profiles:PS50106,hmmpanther:PTHR14191,hmmpanther:PTHR14191:SF7,SMART_domains:SM00228,Superfamily_domains:SSF50156											0,1						LOW	1	SNV	1		0,1	1										PASS		rs147104235	.												T	2	4	39	74763420	74763420	C	T	1	0	0	0	0	0	0	0	1	14996	816	29	3		3	SLC9A3R1	17	74763420	Silent	SNP	C	C3N-00175_TP	391429	74763420	8494021	1170	11320											
LLGL2	0	.	GRCh38	chr17	75563805	75563805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctggctgaccactaggcagGggtaggtatccatgctggtc	7	10	14	10	0	1	1	0	1	1	0	3	1	2	1	2	6	1	5	2	6	3	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.880G>T	p.Gly294Trp	p.G294W	ENST00000392550	9/26	306	269	37	256	256	0	strelka-varscan-mutect	LLGL2,missense_variant,p.Gly294Trp,ENST00000392550,NM_001031803.1;LLGL2,missense_variant,p.Gly294Trp,ENST00000167462,NM_004524.2;LLGL2,missense_variant,p.Gly294Trp,ENST00000577200,;LLGL2,missense_variant,p.Gly294Trp,ENST00000578363,;LLGL2,missense_variant,p.Gly294Trp,ENST00000375227,NM_001015002.1;LLGL2,downstream_gene_variant,,ENST00000581713,;LLGL2,downstream_gene_variant,,ENST00000580578,;LLGL2,downstream_gene_variant,,ENST00000583658,;LLGL2,missense_variant,p.Gly12Trp,ENST00000578638,;LLGL2,splice_region_variant,,ENST00000545227,;LLGL2,splice_region_variant,,ENST00000580027,;LLGL2,upstream_gene_variant,,ENST00000577500,;LLGL2,downstream_gene_variant,,ENST00000582860,;	T	ENST00000392550	Transcript	missense_variant,splice_region_variant	997/3509	880/3063	294/1020	G/W	Ggg/Tgg		1		1	LLGL2	HGNC	HGNC:6629	protein_coding	YES	CCDS32733.1	ENSP00000376333	Q6P1M3		UPI00005905A8	NM_001031803.1	deleterious(0)		9/26		Pfam_domain:PF08366,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	75563805	75563805	G	T	1	0	0	0	0	1	0	0	0	8758	1246	43	2		2	LLGL2	17	75563805	Missense_Mutation	SNP	G	C3N-00175_TP	800385	75563805	7693636	1171	11321											
FBF1	0	.	GRCh38	chr17	75920397	75920397	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtattctgtgctcggcagCaggctccgggccagggactc	5	9	15	12	2	1	0	0	0	1	0	4	1	2	1	2	5	2	5	2	5	1	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1662G>T	p.=	p.L554L	ENST00000627351	16/28	117	103	14	126	126	0	strelka-varscan-mutect	FBF1,synonymous_variant,p.=,ENST00000586717,NM_001319193.1;FBF1,synonymous_variant,p.=,ENST00000319129,;FBF1,synonymous_variant,p.=,ENST00000636174,;FBF1,synonymous_variant,p.=,ENST00000592193,;FBF1,synonymous_variant,p.=,ENST00000627351,NM_001080542.1;FBF1,3_prime_UTR_variant,,ENST00000586838,;FBF1,non_coding_transcript_exon_variant,,ENST00000585990,;RP11-552F3.12,non_coding_transcript_exon_variant,,ENST00000593156,;FBF1,upstream_gene_variant,,ENST00000588283,;	A	ENST00000627351	Transcript	synonymous_variant	1662/3402	1662/3402	554/1133	L	ctG/ctT		1		-1	FBF1	HGNC	HGNC:24674	protein_coding	YES	CCDS45779.1	ENSP00000486708	Q8TES7		UPI0000DD841F	NM_001080542.1			16/28		hmmpanther:PTHR33689,hmmpanther:PTHR33689:SF1																	LOW	1	SNV	5			1										PASS		rs1340764605	.												A	2	1	39	75920397	75920397	C	A	1	0	0	0	0	0	0	0	1	5557	697	25	2		2	FBF1	17	75920397	Silent	SNP	C	C3N-00175_TP	356592	75920397	7337044	1172	11322											
UBE2O	0	.	GRCh38	chr17	76390977	76390977	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactccggcatgcctgccTctagcagggcagcccggaac	7	6	12	16	2	1	0	0	0	1	0	2	1	2	1	4	3	6	4	4	3	2	1	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.3845A>G	p.Glu1282Gly	p.E1282G	ENST00000319380	18/18	63	49	14	74	74	0	strelka-varscan-mutect	UBE2O,missense_variant,p.Glu1282Gly,ENST00000319380,NM_022066.3;UBE2O,missense_variant,p.Glu797Gly,ENST00000587127,;SPHK1,downstream_gene_variant,,ENST00000545180,;SPHK1,downstream_gene_variant,,ENST00000323374,NM_182965.2;SPHK1,downstream_gene_variant,,ENST00000590959,NM_021972.3;SPHK1,downstream_gene_variant,,ENST00000592299,NM_001142601.1;SPHK1,downstream_gene_variant,,ENST00000392496,NM_001142602.1;SPHK1,downstream_gene_variant,,ENST00000588682,;SPHK1,downstream_gene_variant,,ENST00000590379,;SPHK1,downstream_gene_variant,,ENST00000591651,;UBE2O,downstream_gene_variant,,ENST00000586409,;SPHK1,downstream_gene_variant,,ENST00000591762,;SPHK1,downstream_gene_variant,,ENST00000587167,;	C	ENST00000319380	Transcript	missense_variant	3910/5436	3845/3879	1282/1292	E/G	gAg/gGg		1		-1	UBE2O	HGNC	HGNC:29554	protein_coding	YES	CCDS32742.1	ENSP00000323687	Q9C0C9		UPI000020032F	NM_022066.3	tolerated_low_confidence(0.48)		18/18		hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF150																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	76390977	76390977	T	C	1	0	0	0	0	1	0	0	0	17389	1551	54	5		5	UBE2O	17	76390977	Missense_Mutation	SNP	T	C3N-00175_TP	470580	76390977	6866464	1173	11323											
BIRC5	0	.	GRCh38	chr17	78223567	78223567	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggattgaggcctctggccgGagctgcctggtcccagagtg	5	9	16	11	1	1	2	0	1	1	1	2	4	2	4	4	5	2	1	4	5	0	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.324G>T	p.=	p.R108R	ENST00000374948	3/3	201	139	62	170	170	0	strelka-varscan-mutect	BIRC5,synonymous_variant,p.=,ENST00000374948,NM_001012270.1;BIRC5,3_prime_UTR_variant,,ENST00000301633,NM_001012271.1;BIRC5,3_prime_UTR_variant,,ENST00000350051,NM_001168.2;BIRC5,downstream_gene_variant,,ENST00000587746,;BIRC5,downstream_gene_variant,,ENST00000592734,;BIRC5,non_coding_transcript_exon_variant,,ENST00000589892,;BIRC5,downstream_gene_variant,,ENST00000592115,;BIRC5,downstream_gene_variant,,ENST00000590925,;BIRC5,downstream_gene_variant,,ENST00000586192,;BIRC5,downstream_gene_variant,,ENST00000591800,;	T	ENST00000374948	Transcript	synonymous_variant	377/2446	324/414	108/137	R	cgG/cgT		1		1	BIRC5	HGNC	HGNC:593	protein_coding		CCDS32751.1	ENSP00000364086	O15392		UPI000006E9D2	NM_001012270.1			3/3																			LOW		SNV	1			1										PASS		.	.												T	2	4	39	78223567	78223567	G	T	1	0	0	0	0	0	0	0	1	1588	1161	41	2		2	BIRC5	17	78223567	Silent	SNP	G	C3N-00175_TP	1832590	78223567	5033874	1174	11324											
RNF213	0	.	GRCh38	chr17	80298513	80298513	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgttccgggaacaaatgctAgatacgtaagtcgtagagtt	12	10	11	8	4	0	2	0	0	0	2	2	3	1	3	2	1	3	5	2	1	6	6			C3N-00175_TP	C3N-00175_NB	A	A																c.2205A>T	p.=	p.L735L	ENST00000582970	11/68	289	234	55	312	312	0	strelka-varscan-mutect	RNF213,synonymous_variant,p.=,ENST00000582970,NM_001256071.2;RNF213,synonymous_variant,p.=,ENST00000508628,;RNF213,synonymous_variant,p.=,ENST00000319921,NM_020954.3;RNF213,non_coding_transcript_exon_variant,,ENST00000559070,;RNF213,non_coding_transcript_exon_variant,,ENST00000574060,;	T	ENST00000582970	Transcript	synonymous_variant	2348/21055	2205/15624	735/5207	L	ctA/ctT	COSM5023876,COSM5023877,COSM5023878	1		1	RNF213	HGNC	HGNC:14539	protein_coding	YES	CCDS58606.1	ENSP00000464087		A0A0A0MTR7	UPI00043788D6	NM_001256071.2			11/68		hmmpanther:PTHR22605:SF5,hmmpanther:PTHR22605											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												T	2	4	39	80298513	80298513	A	T	1	0	0	0	0	0	0	0	1	13656	434	15	4		4	RNF213	17	80298513	Silent	SNP	A	C3N-00175_TP	2074946	80298513	2958928	1175	11325											
CEP131	0	.	GRCh38	chr17	81193978	81193978	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgcctccttctcccgctCcagctgctcccgcagctcct	3	9	7	22	3	1	0	0	0	1	0	6	0	5	0	6	0	4	5	6	0	0	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2269G>T	p.Glu757Ter	p.E757*	ENST00000450824	18/26	69	46	23	84	84	0	strelka-varscan-mutect	CEP131,stop_gained,p.Glu760Ter,ENST00000269392,NM_001319228.1;CEP131,stop_gained,p.Glu757Ter,ENST00000450824,NM_014984.2;CEP131,stop_gained,p.Glu757Ter,ENST00000374782,NM_001319229.1,NM_001009811.2;CEP131,stop_gained,p.Glu760Ter,ENST00000575907,;CEP131,stop_gained,p.Glu196Ter,ENST00000573053,;CEP131,stop_gained,p.Glu18Ter,ENST00000570817,;CEP131,upstream_gene_variant,,ENST00000571292,;RP11-455O6.2,upstream_gene_variant,,ENST00000571085,;	A	ENST00000450824	Transcript	stop_gained	2448/3543	2269/3243	757/1080	E/*	Gag/Tag		1		-1	CEP131	HGNC	HGNC:29511	protein_coding	YES	CCDS45808.1	ENSP00000393583	Q9UPN4		UPI00002017B6	NM_014984.2			18/26		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31540,hmmpanther:PTHR31540:SF1,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	81193978	81193978	C	A	1	0	0	0	0	0	1	0	0	2959	864	30	2		2	CEP131	17	81193978	Nonsense_Mutation	SNP	C	C3N-00175_TP	895465	81193978	2063463	1176	11326											
BAHCC1	0	.	GRCh38	chr17	81443540	81443540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaccaacactgcgcggcagGgccgggccgcccccgccttc	5	3	13	20	5	0	0	0	0	0	0	1	0	0	0	6	3	2	2	6	3	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2191G>T	p.Gly731Cys	p.G731C	ENST00000584436	5/29	26	17	9	34	34	0	strelka-varscan-mutect	BAHCC1,missense_variant,p.Gly731Cys,ENST00000584436,NM_001291324.1;BAHCC1,missense_variant,p.Gly731Cys,ENST00000307745,;BAHCC1,non_coding_transcript_exon_variant,,ENST00000585224,;	T	ENST00000584436	Transcript	missense_variant	2558/10801	2191/7920	731/2639	G/C	Ggc/Tgc		1		1	BAHCC1	HGNC	HGNC:29279	protein_coding	YES	CCDS74173.1	ENSP00000462154		A0A075B747	UPI0003EAE637	NM_001291324.1	deleterious(0)		5/29		hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	81443540	81443540	G	T	1	0	0	0	0	1	0	0	0	1451	1232	43	2		2	BAHCC1	17	81443540	Missense_Mutation	SNP	G	C3N-00175_TP	249562	81443540	1813901	1177	11327											
BAHCC1	0	.	GRCh38	chr17	81447206	81447206	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgcctccctgcagccccAggagcctggaggagcccggg	6	3	15	17	2	0	0	0	0	0	0	1	3	1	3	7	4	5	1	7	4	0	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.3427A>T	p.Arg1143Trp	p.R1143W	ENST00000584436	12/29	72	50	22	89	89	0	strelka-varscan-mutect	BAHCC1,missense_variant,p.Arg1143Trp,ENST00000584436,NM_001291324.1;BAHCC1,missense_variant,p.Arg1112Trp,ENST00000307745,;MIR3186,downstream_gene_variant,,ENST00000577404,;BAHCC1,downstream_gene_variant,,ENST00000585224,;	T	ENST00000584436	Transcript	missense_variant	3794/10801	3427/7920	1143/2639	R/W	Agg/Tgg		1		1	BAHCC1	HGNC	HGNC:29279	protein_coding	YES	CCDS74173.1	ENSP00000462154		A0A075B747	UPI0003EAE637	NM_001291324.1	deleterious(0.01)		12/29		hmmpanther:PTHR12505:SF22,hmmpanther:PTHR12505																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	81447206	81447206	A	T	1	0	0	0	0	1	0	0	0	1451	179	7	4		4	BAHCC1	17	81447206	Missense_Mutation	SNP	A	C3N-00175_TP	3666	81447206	1810235	1178	11328											
NPLOC4	0	.	GRCh38	chr17	81597276	81597276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtagcggacggtaccctttCgggtatcttctgagacgagg	7	11	14	9	4	2	1	0	1	2	1	3	4	2	2	1	4	2	3	1	4	3	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.962G>A	p.Arg321Gln	p.R321Q	ENST00000331134	10/17	275	239	36	244	244	0	strelka-varscan-mutect	NPLOC4,missense_variant,p.Arg321Gln,ENST00000374747,;NPLOC4,missense_variant,p.Arg321Gln,ENST00000331134,NM_017921.3;NPLOC4,non_coding_transcript_exon_variant,,ENST00000572351,;NPLOC4,3_prime_UTR_variant,,ENST00000574897,;	T	ENST00000331134	Transcript	missense_variant	1178/4415	962/1827	321/608	R/Q	cGa/cAa		1		-1	NPLOC4	HGNC	HGNC:18261	protein_coding	YES	CCDS45812.1	ENSP00000331487	Q8TAT6	A0A024R8R4	UPI0000070BDD	NM_017921.3	tolerated(0.51)		10/17		Pfam_domain:PF05021,PIRSF_domain:PIRSF010052,hmmpanther:PTHR12710																	MODERATE	1	SNV	1			1										PASS		rs1378278966	.												T	3	4	39	81597276	81597276	C	T	1	0	0	0	0	1	0	0	0	10642	884	31	1		1	NPLOC4	17	81597276	Missense_Mutation	SNP	C	C3N-00175_TP	150070	81597276	1660165	1179	11329											
CSNK1D	0	.	GRCh38	chr17	82253111	82253111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgggtgcgtgcatccCggtacttcttggccagcccg	3	10	15	13	3	1	0	0	0	1	0	2	0	2	0	3	4	4	3	3	4	1	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.470G>T	p.Arg157Leu	p.R157L	ENST00000314028	4/9	613	393	220	677	677	0	strelka-varscan-mutect	CSNK1D,missense_variant,p.Arg157Leu,ENST00000314028,NM_001893.4;CSNK1D,missense_variant,p.Arg157Leu,ENST00000392334,NM_139062.2;CSNK1D,missense_variant,p.Arg157Leu,ENST00000398519,;CSNK1D,missense_variant,p.Arg120Leu,ENST00000580446,;SLC16A3,intron_variant,,ENST00000583025,;CSNK1D,non_coding_transcript_exon_variant,,ENST00000578904,;CSNK1D,non_coding_transcript_exon_variant,,ENST00000582844,;RP13-516M14.8,downstream_gene_variant,,ENST00000624920,;CSNK1D,downstream_gene_variant,,ENST00000584472,;CSNK1D,downstream_gene_variant,,ENST00000578194,;CSNK1D,upstream_gene_variant,,ENST00000580565,;CSNK1D,missense_variant,p.Arg75Leu,ENST00000269361,;CSNK1D,non_coding_transcript_exon_variant,,ENST00000581241,;CSNK1D,non_coding_transcript_exon_variant,,ENST00000584377,;CSNK1D,intron_variant,,ENST00000403276,;CSNK1D,upstream_gene_variant,,ENST00000578501,;CSNK1D,upstream_gene_variant,,ENST00000580784,;CSNK1D,downstream_gene_variant,,ENST00000579316,;CSNK1D,upstream_gene_variant,,ENST00000581737,;CSNK1D,downstream_gene_variant,,ENST00000581660,;CSNK1D,upstream_gene_variant,,ENST00000581108,;CSNK1D,downstream_gene_variant,,ENST00000580061,;CSNK1D,downstream_gene_variant,,ENST00000585026,;CSNK1D,upstream_gene_variant,,ENST00000584672,;RP13-516M14.8,downstream_gene_variant,,ENST00000622924,;	A	ENST00000314028	Transcript	missense_variant	820/3712	470/1248	157/415	R/L	cGg/cTg		1		-1	CSNK1D	HGNC	HGNC:2452	protein_coding	YES	CCDS11805.1	ENSP00000324464	P48730		UPI000012DC64	NM_001893.4	deleterious_low_confidence(0)		4/9		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF175,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	82253111	82253111	C	A	1	0	0	0	0	1	0	0	0	3752	652	23	1		1	CSNK1D	17	82253111	Missense_Mutation	SNP	C	C3N-00175_TP	655835	82253111	1004330	1180	11330											
LAMA1	0	.	GRCh38	chr18	6986187	6986187	+	Frame_Shift_Del	DEL	C	C	-																															gagcagcaggtggttgctttCctgcatctttgcctcagctt																										C3N-00175_TP	C3N-00175_NB	C	C																c.5329delG	p.Glu1777LysfsTer13	p.E1777Kfs*13	ENST00000389658	37/63	284	192	92	306	306	0	sindel-varindel-pindel	LAMA1,frameshift_variant,p.Glu1777LysfsTer13,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	-	ENST00000389658	Transcript	frameshift_variant	5423/9657	5329/9228	1777/3075	E/X	Gaa/aa	COSM3527439	1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3			37/63		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06008											1						HIGH	1	deletion	2		1	1										PASS		.	.												-	7	5	39	6986187	6986187	C	-	1	0	1	0	1	0	0	0	0	8509	864	30	0		0	LAMA1	18	6986187	Frame_Shift_Del	DEL	C	C3N-00175_TP		6986187	73387098	1181	11331											
LAMA1	0	.	GRCh38	chr18	7037690	7037690	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcctagtgcatcttgcTgagacgggatcttcctggga	6	10	13	12	2	2	1	0	1	2	1	3	4	3	3	3	2	2	2	3	2	1	3	rs760132767		C3N-00175_TP	C3N-00175_NB	T	T																c.1625A>T	p.Gln542Leu	p.Q542L	ENST00000389658	12/63	438	325	113	498	498	0	strelka-varscan-mutect	LAMA1,missense_variant,p.Gln542Leu,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,downstream_gene_variant,,ENST00000585178,;	A	ENST00000389658	Transcript	missense_variant	1719/9657	1625/9228	542/3075	Q/L	cAg/cTg	rs760132767	1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	tolerated(0.11)		12/63		PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299																	MODERATE	1	SNV	2			1										PASS		rs760132767	.												A	3	1	39	7037690	7037690	T	A	1	0	0	0	0	1	0	0	0	8509	1580	55	4		4	LAMA1	18	7037690	Missense_Mutation	SNP	T	C3N-00175_TP	51503	7037690	73335595	1182	11332											
LAMA1	0	.	GRCh38	chr18	7042219	7042219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacagggtcacaattacagGggcggcaaggctcatcctca	11	6	11	13	1	3	0	3	0	0	0	4	0	4	0	2	5	1	2	2	5	3	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1187C>A	p.Pro396His	p.P396H	ENST00000389658	9/63	245	206	39	260	260	0	strelka-varscan-mutect	LAMA1,missense_variant,p.Pro396His,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,upstream_gene_variant,,ENST00000585178,;	T	ENST00000389658	Transcript	missense_variant	1281/9657	1187/9228	396/3075	P/H	cCc/cAc		1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	deleterious(0)		9/63		Gene3D:2.10.25.10,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	7042219	7042219	G	T	1	0	0	0	0	1	0	0	0	8509	1232	43	2		2	LAMA1	18	7042219	Missense_Mutation	SNP	G	C3N-00175_TP	4529	7042219	73331066	1183	11333											
LDLRAD4	0	.	GRCh38	chr18	13643385	13643385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtggccttcagacagCgccgcaccgcggctgggcgc	4	6	15	16	5	1	1	1	0	0	1	1	1	1	1	4	3	2	2	4	3	0	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.363C>G	p.Ser121Arg	p.S121R	ENST00000359446	5/6	33	23	10	36	36	0	strelka-varscan-mutect	LDLRAD4,missense_variant,p.Ser121Arg,ENST00000359446,NM_181481.4;LDLRAD4,missense_variant,p.Ser84Arg,ENST00000587757,NM_001003674.3;LDLRAD4,missense_variant,p.Ser44Arg,ENST00000585931,NM_001276249.1;LDLRAD4,missense_variant,p.Ser23Arg,ENST00000592991,NM_001276251.1;LDLRAD4,intron_variant,,ENST00000399848,NM_181482.4;LDLRAD4,intron_variant,,ENST00000586765,NM_001003675.3;RP11-701H16.4,downstream_gene_variant,,ENST00000588397,;LDLRAD4,non_coding_transcript_exon_variant,,ENST00000586207,;LDLRAD4,non_coding_transcript_exon_variant,,ENST00000361303,;LDLRAD4,intron_variant,,ENST00000435606,;	G	ENST00000359446	Transcript	missense_variant	831/8486	363/921	121/306	S/R	agC/agG		1		1	LDLRAD4	HGNC	HGNC:1224	protein_coding	YES	CCDS32793.1	ENSP00000352420	O15165		UPI0000126BCF	NM_181481.4	deleterious(0.04)		5/6		hmmpanther:PTHR16514:SF4,hmmpanther:PTHR16514																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	13643385	13643385	C	G	1	0	0	0	0	1	0	0	0	8615	767	27	4		4	LDLRAD4	18	13643385	Missense_Mutation	SNP	C	C3N-00175_TP	6601166	13643385	66729900	1184	11334											
KLHL14	0	.	GRCh38	chr18	32677277	32677277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttggagtatattccactGgtcaccttttgggtcatagc	8	15	10	8	0	2	0	2	0	0	0	3	1	3	1	2	3	1	2	2	3	3	7	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1642C>A	p.Gln548Lys	p.Q548K	ENST00000359358	8/9	148	133	15	160	160	0	strelka-varscan-mutect	KLHL14,missense_variant,p.Gln548Lys,ENST00000359358,NM_020805.1;	T	ENST00000359358	Transcript	missense_variant	2081/4312	1642/1887	548/628	Q/K	Cag/Aag		1		-1	KLHL14	HGNC	HGNC:29266	protein_coding	YES	CCDS32813.1	ENSP00000352314	Q9P2G3		UPI00001C1FF2	NM_020805.1	deleterious(0.01)		8/9		Superfamily_domains:0052715,Gene3D:1zgkA00,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF60,SMART_domains:SM00612																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	32677277	32677277	G	T	1	0	0	0	0	1	0	0	0	8234	1357	47	2		2	KLHL14	18	32677277	Missense_Mutation	SNP	G	C3N-00175_TP	19033892	32677277	47696008	1185	11335											
NOL4	0	.	GRCh38	chr18	33943086	33943086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgtctctccagacgcatCctcttggcggcatttctact	5	14	8	14	2	3	1	0	0	3	1	6	1	5	1	2	2	2	3	2	2	1	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1521G>T	p.Arg507Ser	p.R507S	ENST00000261592	9/11	120	100	20	174	172	2	strelka-varscan-mutect	NOL4,missense_variant,p.Arg507Ser,ENST00000261592,NM_003787.4;NOL4,missense_variant,p.Arg433Ser,ENST00000538587,NM_001198547.1;NOL4,missense_variant,p.Arg427Ser,ENST00000590712,NM_001198546.1;NOL4,missense_variant,p.Arg222Ser,ENST00000535384,NM_001198549.1;NOL4,missense_variant,p.Arg192Ser,ENST00000586553,;NOL4,intron_variant,,ENST00000589544,NM_001198548.1;NOL4,3_prime_UTR_variant,,ENST00000586314,;	A	ENST00000261592	Transcript	missense_variant	1819/3957	1521/1917	507/638	R/S	agG/agT		1		-1	NOL4	HGNC	HGNC:7870	protein_coding	YES	CCDS11907.2	ENSP00000261592	O94818		UPI000059D504	NM_003787.4	deleterious(0.01)		9/11		hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	33943086	33943086	C	A	1	0	0	0	0	1	0	0	0	10567	854	30	2		2	NOL4	18	33943086	Missense_Mutation	SNP	C	C3N-00175_TP	1265809	33943086	46430199	1186	11336											
DTNA	0	.	GRCh38	chr18	34812111	34812111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagatcctgtttctcccaaCaggtaggagaaaaatatgtt	13	11	8	9	0	1	2	0	0	1	2	3	3	2	2	3	2	1	3	3	2	5	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.601C>A	p.Gln201Lys	p.Q201K	ENST00000598334	7/20	208	169	39	262	262	0	strelka-varscan-mutect	DTNA,missense_variant,p.Gln201Lys,ENST00000283365,NM_032975.3;DTNA,missense_variant,p.Gln201Lys,ENST00000399121,NM_001198939.1;DTNA,missense_variant,p.Gln201Lys,ENST00000444659,NM_001390.4;DTNA,missense_variant,p.Gln201Lys,ENST00000595022,NM_001198940.1;DTNA,missense_variant,p.Gln201Lys,ENST00000348997,NM_032978.6,NM_001391.5;DTNA,missense_variant,p.Gln201Lys,ENST00000598334,NM_001198938.1;DTNA,missense_variant,p.Gln201Lys,ENST00000598142,;DTNA,missense_variant,p.Gln201Lys,ENST00000598774,NM_032979.4;DTNA,missense_variant,p.Gln201Lys,ENST00000399113,;DTNA,missense_variant,p.Gln201Lys,ENST00000597599,NM_001198941.1;DTNA,missense_variant,p.Gln201Lys,ENST00000315456,NM_001392.4;DTNA,missense_variant,p.Gln201Lys,ENST00000554864,NM_001128175.1;DTNA,missense_variant,p.Gln201Lys,ENST00000596745,NM_001198945.1;DTNA,upstream_gene_variant,,ENST00000592114,;DTNA,downstream_gene_variant,,ENST00000585446,;	A	ENST00000598334	Transcript	missense_variant,splice_region_variant	927/3201	601/2175	201/724	Q/K	Cag/Aag		1		1	DTNA	HGNC	HGNC:3057	protein_coding	YES	CCDS59312.1	ENSP00000470152	Q9Y4J8		UPI0001E92A2F	NM_001198938.1	deleterious(0.04)		7/20		hmmpanther:PTHR11915:SF209,hmmpanther:PTHR11915,Gene3D:1.10.238.10,Pfam_domain:PF09069,PIRSF_domain:PIRSF038204,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	34812111	34812111	C	A	1	0	0	0	0	1	0	0	0	4611	492	17	2		2	DTNA	18	34812111	Missense_Mutation	SNP	C	C3N-00175_TP	869025	34812111	45561174	1187	11337											
PIK3C3	0	.	GRCh38	chr18	42027516	42027516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatgagatgtacttgaacGtaatgagaagattcagccaa	15	9	9	8	1	1	4	1	3	0	3	1	6	1	4	2	0	3	2	2	0	5	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1558G>T	p.Val520Leu	p.V520L	ENST00000262039	14/25	106	88	18	154	154	0	strelka-varscan-mutect	PIK3C3,missense_variant,p.Val520Leu,ENST00000262039,NM_002647.2;PIK3C3,missense_variant,p.Val457Leu,ENST00000398870,NM_001308020.1;PIK3C3,non_coding_transcript_exon_variant,,ENST00000590013,;PIK3C3,non_coding_transcript_exon_variant,,ENST00000593098,;	T	ENST00000262039	Transcript	missense_variant	1644/9443	1558/2664	520/887	V/L	Gta/Tta		1		1	PIK3C3	HGNC	HGNC:8974	protein_coding	YES	CCDS11920.1	ENSP00000262039	Q8NEB9		UPI00000708CE	NM_002647.2	deleterious(0.03)		14/25		Gene3D:1.25.40.70,Pfam_domain:PF00613,PIRSF_domain:PIRSF000587,PROSITE_profiles:PS51545,hmmpanther:PTHR10048,SMART_domains:SM00145,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs1428544886	.												T	3	4	39	42027516	42027516	G	T	1	0	0	0	0	1	0	0	0	12007	1145	40	1		1	PIK3C3	18	42027516	Missense_Mutation	SNP	G	C3N-00175_TP	7215405	42027516	38345769	1188	11338											
LOXHD1	0	.	GRCh38	chr18	46547007	46547007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaacagctccctggacagCtggccatcatcttcctccac	8	8	8	17	0	2	0	1	0	1	0	5	1	5	1	4	3	3	3	4	3	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.69G>T	p.Gln23His	p.Q23H	ENST00000300591	4/24	190	158	32	251	251	0	strelka-varscan-mutect	LOXHD1,missense_variant,p.Gln1134His,ENST00000536736,NM_144612.6;LOXHD1,missense_variant,p.Gln928His,ENST00000441551,;LOXHD1,missense_variant,p.Gln23His,ENST00000300591,NM_001145472.2;LOXHD1,missense_variant,p.Gln23His,ENST00000582408,;LOXHD1,missense_variant,p.Gln23His,ENST00000419859,;LOXHD1,5_prime_UTR_variant,,ENST00000579038,NM_001308013.1;LOXHD1,missense_variant,p.Gln36His,ENST00000536111,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;	A	ENST00000300591	Transcript	missense_variant	483/3970	69/3345	23/1114	Q/H	caG/caT		1		-1	LOXHD1	HGNC	HGNC:26521	protein_coding	YES	CCDS45861.1	ENSP00000300591	Q8IVV2		UPI0000456B8D	NM_001145472.2	deleterious(0)		4/24		PROSITE_profiles:PS50095,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF137																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	46547007	46547007	C	A	1	0	0	0	0	1	0	0	0	8801	796	28	2		2	LOXHD1	18	46547007	Missense_Mutation	SNP	C	C3N-00175_TP	4519491	46547007	33826278	1189	11339											
LOXHD1	0	.	GRCh38	chr18	46657013	46657013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgatgtccttcttcctccgCcttttcttctggggcatcat	3	17	7	14	2	4	0	1	0	3	0	8	1	7	0	4	2	0	1	4	2	0	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.21G>C	p.Arg7Ser	p.R7S	ENST00000536736	1/40	169	157	12	226	226	0	strelka-varscan-mutect	LOXHD1,missense_variant,p.Arg7Ser,ENST00000536736,NM_144612.6;LOXHD1,missense_variant,p.Arg7Ser,ENST00000441551,;	G	ENST00000536736	Transcript	missense_variant	21/6848	21/6636	7/2211	R/S	agG/agC		1		-1	LOXHD1	HGNC	HGNC:26521	protein_coding			ENSP00000444586		F5GZB4	UPI0001A595CE	NM_144612.6	deleterious_low_confidence(0.01)		1/40		hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF137																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	39	46657013	46657013	C	G	1	0	0	0	0	1	0	0	0	8801	738	26	4		4	LOXHD1	18	46657013	Missense_Mutation	SNP	C	C3N-00175_TP	110006	46657013	33716272	1190	11340											
DCC	0	.	GRCh38	chr18	53410607	53410607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacgaaattcaaaaggagtgGggccactctctgatcctatc	12	9	9	11	1	2	1	1	1	1	0	5	3	3	2	2	3	0	0	2	3	4	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.3091G>T	p.Gly1031Trp	p.G1031W	ENST00000442544	20/29	262	238	24	345	343	2	strelka-varscan-mutect	DCC,missense_variant,p.Gly1031Trp,ENST00000442544,NM_005215.3;DCC,missense_variant,p.Gly1008Trp,ENST00000412726,;DCC,missense_variant,p.Gly666Trp,ENST00000581580,;DCC,missense_variant,p.Gly170Trp,ENST00000579941,;DCC,3_prime_UTR_variant,,ENST00000304775,;	T	ENST00000442544	Transcript	missense_variant	3707/10206	3091/4344	1031/1447	G/W	Ggg/Tgg		1		1	DCC	HGNC	HGNC:2701	protein_coding	YES	CCDS11952.1	ENSP00000389140	P43146		UPI00001AEDC6	NM_005215.3	deleterious(0)		20/29		Gene3D:2.60.40.10,Pfam_domain:PF00041,Prints_domain:PR00014,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF68,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	53410607	53410607	G	T	1	0	0	0	0	1	0	0	0	4084	1232	43	2		2	DCC	18	53410607	Missense_Mutation	SNP	G	C3N-00175_TP	6753594	53410607	26962678	1191	11341											
POLI	0	.	GRCh38	chr18	54293765	54293765	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctccactagataccacAaatttttctaaagaaaaaga	18	10	5	8	0	2	3	0	0	2	3	3	4	2	3	2	0	1	0	2	0	7	5	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1521A>T	p.=	p.T507T	ENST00000579534	10/10	78	74	4	135	135	0	varscan-mutect	POLI,synonymous_variant,p.=,ENST00000579534,NM_007195.2;POLI,synonymous_variant,p.=,ENST00000579434,;POLI,synonymous_variant,p.=,ENST00000217800,;POLI,synonymous_variant,p.=,ENST00000406285,;POLI,intron_variant,,ENST00000579823,;POLI,non_coding_transcript_exon_variant,,ENST00000582366,;POLI,3_prime_UTR_variant,,ENST00000585023,;POLI,non_coding_transcript_exon_variant,,ENST00000577727,;POLI,non_coding_transcript_exon_variant,,ENST00000577361,;POLI,downstream_gene_variant,,ENST00000581950,;	T	ENST00000579534	Transcript	synonymous_variant	1664/6133	1521/2223	507/740	T	acA/acT		1		1	POLI	HGNC	HGNC:9182	protein_coding	YES	CCDS11954.2	ENSP00000462664	Q9UNA4		UPI00004DDD95	NM_007195.2			10/10		hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF10																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	54293765	54293765	A	T	1	0	0	0	0	0	0	0	1	12313	117	5	4		4	POLI	18	54293765	Silent	SNP	A	C3N-00175_TP	883158	54293765	26079520	1192	11342											
WDR7	0	.	GRCh38	chr18	56695155	56695155	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgtacctgccacacagacGgccatagtacagctgttgca	11	9	9	12	1	0	1	0	0	0	1	0	1	0	1	3	1	5	5	3	1	3	5	rs749535701		C3N-00175_TP	C3N-00175_NB	G	G																c.1314G>C	p.=	p.T438T	ENST00000254442	11/28	116	94	22	138	138	0	strelka-mutect	WDR7,synonymous_variant,p.=,ENST00000254442,NM_015285.2;WDR7,synonymous_variant,p.=,ENST00000357574,NM_052834.2;WDR7,intron_variant,,ENST00000615645,;WDR7,intron_variant,,ENST00000589935,;WDR7,non_coding_transcript_exon_variant,,ENST00000585754,;	C	ENST00000254442	Transcript	synonymous_variant	1525/14083	1314/4473	438/1490	T	acG/acC	rs749535701	1		1	WDR7	HGNC	HGNC:13490	protein_coding	YES	CCDS11962.1	ENSP00000254442	Q9Y4E6		UPI000013CE33	NM_015285.2			11/28		Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF409,Superfamily_domains:SSF50998																	LOW	1	SNV	1			1										PASS		rs749535701	.												C	2	2	39	56695155	56695155	G	C	1	0	0	0	0	0	0	0	1	17876	1103	39	4		4	WDR7	18	56695155	Silent	SNP	G	C3N-00175_TP	2401390	56695155	23678130	1193	11343											
ST8SIA3	0	.	GRCh38	chr18	57357183	57357183	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgttttccgttgcaatttCgcccctacggaggctttcca	5	16	8	12	3	0	0	0	0	0	0	3	1	2	1	4	2	2	4	4	2	2	7	rs376754702		C3N-00175_TP	C3N-00175_NB	C	C																c.573C>T	p.=	p.F191F	ENST00000324000	3/4	166	135	31	192	191	1	strelka-varscan-mutect	ST8SIA3,synonymous_variant,p.=,ENST00000324000,NM_015879.2;ST8SIA3,synonymous_variant,p.=,ENST00000586360,;	T	ENST00000324000	Transcript	synonymous_variant	2607/11833	573/1143	191/380	F	ttC/ttT	rs376754702,COSM709293	1		1	ST8SIA3	HGNC	HGNC:14269	protein_coding	YES	CCDS32834.1	ENSP00000320431	O43173		UPI000014126D	NM_015879.2			3/4		hmmpanther:PTHR11987:SF36,hmmpanther:PTHR11987,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557											0,1						LOW	1	SNV	1		0,1	1										PASS		rs376754702	.												T	2	4	39	57357183	57357183	C	T	1	0	0	0	0	0	0	0	1	15611	883	31	1		1	ST8SIA3	18	57357183	Silent	SNP	C	C3N-00175_TP	662028	57357183	23016102	1194	11344											
ALPK2	0	.	GRCh38	chr18	58517099	58517099	+	Missense_Mutation	SNP	G	G	C																															cagctcctccgtggcgatctGaccacgcaggcggcccccaa																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.5749C>G	p.Gln1917Glu	p.Q1917E	ENST00000361673	9/13	246	207	39	350	350	0	strelka-varscan-mutect	ALPK2,missense_variant,p.Gln1917Glu,ENST00000361673,NM_052947.3;RP11-1151B14.5,upstream_gene_variant,,ENST00000610389,;	C	ENST00000361673	Transcript	missense_variant	5963/7303	5749/6513	1917/2170	Q/E	Cag/Gag		1		-1	ALPK2	HGNC	HGNC:20565	protein_coding	YES	CCDS11966.2	ENSP00000354991	Q86TB3		UPI000022A768	NM_052947.3	deleterious(0)		9/13		PROSITE_profiles:PS51158,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6,SMART_domains:SM00811,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	58517099	58517099	G	C	1	0	0	0	0	1	0	0	0	645	1299	45	4		4	ALPK2	18	58517099	Missense_Mutation	SNP	G	C3N-00175_TP	1159916	58517099	21856186	1195	11345	258	2									
ALPK2	0	.	GRCh38	chr18	58517105	58517105	+	Missense_Mutation	SNP	G	G	T																															ctccgtggcgatctgaccacGcaggcggcccccaaagtagc																								rs754653638		C3N-00175_TP	C3N-00175_NB	G	G																c.5743C>A	p.Arg1915Ser	p.R1915S	ENST00000361673	9/13	227	190	37	324	324	0	strelka-varscan-mutect	ALPK2,missense_variant,p.Arg1915Ser,ENST00000361673,NM_052947.3;RP11-1151B14.5,upstream_gene_variant,,ENST00000610389,;	T	ENST00000361673	Transcript	missense_variant	5957/7303	5743/6513	1915/2170	R/S	Cgt/Agt	rs754653638	1		-1	ALPK2	HGNC	HGNC:20565	protein_coding	YES	CCDS11966.2	ENSP00000354991	Q86TB3		UPI000022A768	NM_052947.3	deleterious(0)		9/13		PROSITE_profiles:PS51158,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6,SMART_domains:SM00811,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs754653638	.												T	3	4	39	58517105	58517105	G	T	1	0	0	0	0	1	0	0	0	645	1087	38	1		1	ALPK2	18	58517105	Missense_Mutation	SNP	G	C3N-00175_TP	6	58517105	21856180	1196	11346	258	2									
SERPINB11	0	.	GRCh38	chr18	63710220	63710220	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcagcacagctaacgtTgaattttgccttgatgtgtt	8	16	8	9	1	2	2	1	2	1	0	3	2	2	2	1	0	4	4	1	0	2	6	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.27T>A	p.=	p.V9V	ENST00000623262	1/5	86	77	9	112	112	0	strelka-varscan-mutect	SERPINB11,synonymous_variant,p.=,ENST00000382749,NM_080475.3;SERPINB11,synonymous_variant,p.=,ENST00000544088,;SERPINB11,synonymous_variant,p.=,ENST00000489748,;SERPINB11,synonymous_variant,p.=,ENST00000623262,NM_001291278.1;SERPINB11,synonymous_variant,p.=,ENST00000624518,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000467649,;SERPINB11,synonymous_variant,p.=,ENST00000536691,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000610304,;SERPINB11,downstream_gene_variant,,ENST00000613567,;	A	ENST00000623262	Transcript	synonymous_variant	27/918	27/918	9/305	V	gtT/gtA		1		1	SERPINB11	HGNC	HGNC:14221	protein_coding	YES	CCDS77196.1	ENSP00000485532		A0A096LPD5	UPI0003EAEE70	NM_001291278.1			1/5		hmmpanther:PTHR11461:SF199,hmmpanther:PTHR11461,Gene3D:1jjoA00,Pfam_domain:PF00079,Superfamily_domains:SSF56574																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	63710220	63710220	T	A	1	0	0	0	0	0	0	0	1	14374	1799	63	4		4	SERPINB11	18	63710220	Silent	SNP	T	C3N-00175_TP	5193115	63710220	16663065	1197	11347											
FAM69C	0	.	GRCh38	chr18	74436579	74436579	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacacgctggaggctgcTctccgggtgttcccactggg	6	8	14	13	2	1	1	0	0	1	1	3	2	2	2	2	4	2	4	2	4	1	1	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1182A>G	p.=	p.R394R	ENST00000343998	4/4	158	136	22	206	206	0	strelka-varscan-mutect	FAM69C,synonymous_variant,p.=,ENST00000343998,NM_001044369.2;FAM69C,synonymous_variant,p.=,ENST00000400291,;	C	ENST00000343998	Transcript	synonymous_variant	1191/3671	1182/1260	394/419	R	agA/agG		1		-1	FAM69C	HGNC	HGNC:31729	protein_coding	YES	CCDS42445.2	ENSP00000344331	Q0P6D2		UPI000041AA52	NM_001044369.2			4/4		hmmpanther:PTHR21093,hmmpanther:PTHR21093:SF2																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	39	74436579	74436579	T	C	1	0	0	0	0	0	0	0	1	5470	1548	54	5		5	FAM69C	18	74436579	Silent	SNP	T	C3N-00175_TP	10726359	74436579	5936706	1198	11348											
FAM69C	0	.	GRCh38	chr18	74447199	74447199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctctgttgtagtgcaGgcagcgttggaacagcagct	7	11	13	10	1	1	0	0	0	1	0	1	1	1	1	1	2	6	7	1	2	2	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.283C>A	p.Leu95Met	p.L95M	ENST00000343998	2/4	125	111	14	158	158	0	strelka-mutect	FAM69C,missense_variant,p.Leu95Met,ENST00000343998,NM_001044369.2;FAM69C,intron_variant,,ENST00000400291,;	T	ENST00000343998	Transcript	missense_variant	292/3671	283/1260	95/419	L/M	Ctg/Atg		1		-1	FAM69C	HGNC	HGNC:31729	protein_coding	YES	CCDS42445.2	ENSP00000344331	Q0P6D2		UPI000041AA52	NM_001044369.2	deleterious(0)		2/4		hmmpanther:PTHR21093,hmmpanther:PTHR21093:SF2,Pfam_domain:PF14875,SMART_domains:SM01299																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	74447199	74447199	G	T	1	0	0	0	0	1	0	0	0	5470	991	35	2		2	FAM69C	18	74447199	Missense_Mutation	SNP	G	C3N-00175_TP	10620	74447199	5926086	1199	11349											
FAM69C	0	.	GRCh38	chr18	74447254	74447254	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcctcgcagaggtccccGgccagcgtgccgccctggta	5	6	14	16	4	0	1	0	0	0	1	3	1	2	1	6	4	2	2	6	4	1	1			C3N-00175_TP	C3N-00175_NB	G	G																c.228C>A	p.=	p.A76A	ENST00000343998	2/4	64	57	7	73	73	0	strelka-varscan-mutect	FAM69C,synonymous_variant,p.=,ENST00000343998,NM_001044369.2;FAM69C,intron_variant,,ENST00000400291,;	T	ENST00000343998	Transcript	synonymous_variant	237/3671	228/1260	76/419	A	gcC/gcA	COSM4979206	1		-1	FAM69C	HGNC	HGNC:31729	protein_coding	YES	CCDS42445.2	ENSP00000344331	Q0P6D2		UPI000041AA52	NM_001044369.2			2/4		hmmpanther:PTHR21093,hmmpanther:PTHR21093:SF2,Pfam_domain:PF14875,SMART_domains:SM01299											1						LOW	1	SNV	5		1	1										PASS		rs1156374401	.												T	2	4	39	74447254	74447254	G	T	1	0	0	0	0	0	0	0	1	5470	1103	39	1		1	FAM69C	18	74447254	Silent	SNP	G	C3N-00175_TP	55	74447254	5926031	1200	11350											
ZNF407	0	.	GRCh38	chr18	74633228	74633228	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagactatcattttctttgtAaagcttgtaatctttattca	12	19	4	6	0	4	1	2	0	2	1	4	1	4	1	0	0	1	3	0	0	6	10	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2209A>T	p.Lys737Ter	p.K737*	ENST00000299687	1/8	100	75	25	191	191	0	strelka-varscan-mutect	ZNF407,stop_gained,p.Lys737Ter,ENST00000299687,NM_017757.2;ZNF407,stop_gained,p.Lys737Ter,ENST00000577538,NM_001146189.1;ZNF407,stop_gained,p.Lys737Ter,ENST00000582337,;ZNF407,stop_gained,p.Lys737Ter,ENST00000309902,NM_001146190.1;	T	ENST00000299687	Transcript	stop_gained	2209/7948	2209/6747	737/2248	K/*	Aaa/Taa		1		1	ZNF407	HGNC	HGNC:19904	protein_coding	YES	CCDS45885.1	ENSP00000299687	Q9C0G0		UPI0000F58ED1	NM_017757.2			1/8		SMART_domains:SM00355,SMART_domains:SM00451																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	39	74633228	74633228	A	T	1	0	0	0	0	0	1	0	0	18459	363	13	4		4	ZNF407	18	74633228	Nonsense_Mutation	SNP	A	C3N-00175_TP	185974	74633228	5740057	1201	11351											
ZNF407	0	.	GRCh38	chr18	74633918	74633918	+	Nonsense_Mutation	SNP	G	G	T																															cagatcgtggaaactcaattGaagctgaagttgaaaatgta																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2899G>T	p.Glu967Ter	p.E967*	ENST00000299687	1/8	136	109	27	187	187	0	strelka-varscan-mutect	ZNF407,stop_gained,p.Glu967Ter,ENST00000299687,NM_017757.2;ZNF407,stop_gained,p.Glu967Ter,ENST00000577538,NM_001146189.1;ZNF407,stop_gained,p.Glu967Ter,ENST00000582337,;ZNF407,stop_gained,p.Glu967Ter,ENST00000309902,NM_001146190.1;	T	ENST00000299687	Transcript	stop_gained	2899/7948	2899/6747	967/2248	E/*	Gaa/Taa		1		1	ZNF407	HGNC	HGNC:19904	protein_coding	YES	CCDS45885.1	ENSP00000299687	Q9C0G0		UPI0000F58ED1	NM_017757.2			1/8																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	39	74633918	74633918	G	T	1	0	0	0	0	0	1	0	0	18459	1291	45	2		2	ZNF407	18	74633918	Nonsense_Mutation	SNP	G	C3N-00175_TP	690	74633918	5739367	1202	11352	259	2									
ZNF407	0	.	GRCh38	chr18	74633919	74633919	+	Missense_Mutation	SNP	A	A	T																															agatcgtggaaactcaattgAagctgaagttgaaaatgtat																								novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2900A>T	p.Glu967Val	p.E967V	ENST00000299687	1/8	135	108	27	192	192	0	strelka-varscan-mutect	ZNF407,missense_variant,p.Glu967Val,ENST00000299687,NM_017757.2;ZNF407,missense_variant,p.Glu967Val,ENST00000577538,NM_001146189.1;ZNF407,missense_variant,p.Glu967Val,ENST00000582337,;ZNF407,missense_variant,p.Glu967Val,ENST00000309902,NM_001146190.1;	T	ENST00000299687	Transcript	missense_variant	2900/7948	2900/6747	967/2248	E/V	gAa/gTa		1		1	ZNF407	HGNC	HGNC:19904	protein_coding	YES	CCDS45885.1	ENSP00000299687	Q9C0G0		UPI0000F58ED1	NM_017757.2	deleterious(0.01)		1/8																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	74633919	74633919	A	T	1	0	0	0	0	1	0	0	0	18459	246	9	4		4	ZNF407	18	74633919	Missense_Mutation	SNP	A	C3N-00175_TP	1	74633919	5739366	1203	11353	259	2									
ZNF236	0	.	GRCh38	chr18	76910135	76910135	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgaagagcagagccctgcGcaacagtccttcgaaccagc	11	7	10	13	2	0	3	0	1	0	2	2	4	1	3	3	0	6	2	3	0	3	2	rs753514687		C3N-00175_TP	C3N-00175_NB	G	G																c.2619G>T	p.=	p.A873A	ENST00000320610	15/31	75	62	13	155	155	0	strelka-varscan-mutect	ZNF236,synonymous_variant,p.=,ENST00000253159,NM_007345.3;ZNF236,synonymous_variant,p.=,ENST00000320610,NM_001306089.1;ZNF236,synonymous_variant,p.=,ENST00000543926,;	T	ENST00000320610	Transcript	synonymous_variant	2620/7124	2619/5544	873/1847	A	gcG/gcT	rs753514687	1		1	ZNF236	HGNC	HGNC:13028	protein_coding	YES	CCDS77201.1	ENSP00000322361		J9JID5	UPI000268B415	NM_001306089.1			15/31		hmmpanther:PTHR24396:SF21,hmmpanther:PTHR24396																	LOW	1	SNV	1			1										PASS		rs753514687	.												T	2	4	39	76910135	76910135	G	T	1	0	0	0	0	0	0	0	1	18366	1074	38	1		1	ZNF236	18	76910135	Silent	SNP	G	C3N-00175_TP	2276216	76910135	3463150	1204	11354											
ZNF236	0	.	GRCh38	chr18	76959739	76959739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgagctcccagaagccaaGagtgtttaaatgtgacactt	12	12	9	8	0	0	4	0	2	0	2	1	4	1	4	2	0	2	2	2	0	4	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.5165G>T	p.Arg1722Ile	p.R1722I	ENST00000320610	29/31	97	80	17	124	124	0	strelka-varscan-mutect	ZNF236,missense_variant,p.Arg1720Ile,ENST00000253159,NM_007345.3;ZNF236,missense_variant,p.Arg1722Ile,ENST00000320610,NM_001306089.1;ZNF236,3_prime_UTR_variant,,ENST00000543926,;	T	ENST00000320610	Transcript	missense_variant	5166/7124	5165/5544	1722/1847	R/I	aGa/aTa		1		1	ZNF236	HGNC	HGNC:13028	protein_coding	YES	CCDS77201.1	ENSP00000322361		J9JID5	UPI000268B415	NM_001306089.1	deleterious(0)		29/31		hmmpanther:PTHR24396:SF21,hmmpanther:PTHR24396,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	76959739	76959739	G	T	1	0	0	0	0	1	0	0	0	18366	942	33	2		2	ZNF236	18	76959739	Missense_Mutation	SNP	G	C3N-00175_TP	49604	76959739	3413546	1205	11355											
SALL3	0	.	GRCh38	chr18	78994098	78994098	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcactaccggacgcacacgGgggagcggccgttcaagtgc	8	5	15	13	5	1	0	1	0	0	0	1	2	1	2	2	4	4	3	2	4	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2107G>T	p.Gly703Trp	p.G703W	ENST00000537592	2/3	123	93	30	204	204	0	strelka-varscan-mutect	SALL3,missense_variant,p.Gly703Trp,ENST00000537592,NM_171999.3;SALL3,missense_variant,p.Gly570Trp,ENST00000536229,;SALL3,missense_variant,p.Gly703Trp,ENST00000575389,;SALL3,missense_variant,p.Gly435Trp,ENST00000616649,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	T	ENST00000537592	Transcript	missense_variant	2107/6555	2107/3903	703/1300	G/W	Ggg/Tgg		1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3	deleterious(0)		2/3		PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	78994098	78994098	G	T	1	0	0	0	0	1	0	0	0	14071	1232	43	2		2	SALL3	18	78994098	Missense_Mutation	SNP	G	C3N-00175_TP	2034359	78994098	1379187	1206	11356											
MIER2	0	.	GRCh38	chr19	311931	311931	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcttcactccaagcacAgagcccatctgcaaacacgg	11	7	6	17	1	3	1	1	0	2	1	5	1	5	1	3	1	4	2	3	1	2	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.898T>A	p.Cys300Ser	p.C300S	ENST00000264819	10/14	190	162	28	234	233	1	strelka-varscan-mutect	MIER2,missense_variant,p.Cys300Ser,ENST00000264819,NM_017550.1;MIER2,upstream_gene_variant,,ENST00000619835,;	T	ENST00000264819	Transcript	missense_variant	898/6884	898/1638	300/545	C/S	Tgt/Agt		1		-1	MIER2	HGNC	HGNC:29210	protein_coding	YES	CCDS32855.1	ENSP00000264819	Q8N344		UPI00001AE8C2	NM_017550.1	tolerated(0.1)		10/14		PROSITE_profiles:PS51293,hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF27,SMART_domains:SM00717																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	311931	311931	A	T	1	0	0	0	0	1	0	0	0	9544	188	7	4		4	MIER2	19	311931	Missense_Mutation	SNP	A	C3N-00175_TP		311931	58305685	1207	11357											
APC2	0	.	GRCh38	chr19	1470071	1470071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcgccgtggggggcttccCcgccagccggcacggctccc	2	5	16	18	5	0	0	0	0	0	0	3	0	2	0	6	6	1	3	6	6	0	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.6770C>G	p.Pro2257Arg	p.P2257R	ENST00000535453	14/14	112	103	9	201	201	0	strelka-varscan-mutect	APC2,missense_variant,p.Pro2257Arg,ENST00000535453,;APC2,missense_variant,p.Pro2257Arg,ENST00000233607,NM_005883.2;C19orf25,intron_variant,,ENST00000588427,;C19orf25,downstream_gene_variant,,ENST00000436106,;APC2,downstream_gene_variant,,ENST00000238483,;APC2,downstream_gene_variant,,ENST00000590469,;C19orf25,downstream_gene_variant,,ENST00000588871,;C19orf25,downstream_gene_variant,,ENST00000585675,NM_152482.2;C19orf25,downstream_gene_variant,,ENST00000588849,;C19orf25,downstream_gene_variant,,ENST00000427685,;C19orf25,downstream_gene_variant,,ENST00000592872,;C19orf25,downstream_gene_variant,,ENST00000586564,;C19orf25,downstream_gene_variant,,ENST00000590621,;APC2,downstream_gene_variant,,ENST00000593146,;C19orf25,downstream_gene_variant,,ENST00000592486,;	G	ENST00000535453	Transcript	missense_variant	8483/11656	6770/6912	2257/2303	P/R	cCc/cGc		1		1	APC2	HGNC	HGNC:24036	protein_coding	YES	CCDS12068.1	ENSP00000442954	O95996		UPI0000073D85		deleterious(0.04)		14/14		hmmpanther:PTHR12607:SF3,hmmpanther:PTHR12607																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	1470071	1470071	C	G	1	0	0	0	0	1	0	0	0	884	623	22	4		4	APC2	19	1470071	Missense_Mutation	SNP	C	C3N-00175_TP	1158140	1470071	57147545	1208	11358											
PCSK4	0	.	GRCh38	chr19	1482176	1482176	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcagtaggccaggcagagCtgtcccaggatgtaggcggg	8	5	19	9	1	0	1	0	0	0	1	1	2	1	2	2	6	1	5	2	6	2	2	rs554107508		C3N-00175_TP	C3N-00175_NB	C	C																c.1851G>T	p.Gln617His	p.Q617H	ENST00000300954	15/15	69	54	15	112	112	0	strelka-varscan-mutect	PCSK4,missense_variant,p.Gln617His,ENST00000300954,NM_017573.4;C19orf25,upstream_gene_variant,,ENST00000436106,;C19orf25,upstream_gene_variant,,ENST00000588871,;C19orf25,upstream_gene_variant,,ENST00000585675,NM_152482.2;C19orf25,upstream_gene_variant,,ENST00000588849,;C19orf25,upstream_gene_variant,,ENST00000427685,;C19orf25,upstream_gene_variant,,ENST00000592872,;C19orf25,upstream_gene_variant,,ENST00000586564,;C19orf25,upstream_gene_variant,,ENST00000590621,;C19orf25,upstream_gene_variant,,ENST00000588427,;C19orf25,upstream_gene_variant,,ENST00000591027,;C19orf25,upstream_gene_variant,,ENST00000592605,;PCSK4,3_prime_UTR_variant,,ENST00000591201,;PCSK4,non_coding_transcript_exon_variant,,ENST00000586616,;PCSK4,non_coding_transcript_exon_variant,,ENST00000441747,;PCSK4,non_coding_transcript_exon_variant,,ENST00000586074,;PCSK4,downstream_gene_variant,,ENST00000588195,;PCSK4,downstream_gene_variant,,ENST00000586002,;PCSK4,downstream_gene_variant,,ENST00000591303,;C19orf25,upstream_gene_variant,,ENST00000589421,;	A	ENST00000300954	Transcript	missense_variant	1913/2661	1851/2268	617/755	Q/H	caG/caT	rs554107508	1		-1	PCSK4	HGNC	HGNC:8746	protein_coding	YES	CCDS12069.2	ENSP00000300954	Q6UW60	A0A140VJQ9	UPI000014E136	NM_017573.4	tolerated(0.55)		15/15		hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF386,Gene3D:2.10.220.10,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		rs554107508	.												A	3	1	39	1482176	1482176	C	A	1	0	0	0	0	1	0	0	0	11690	796	28	2		2	PCSK4	19	1482176	Missense_Mutation	SNP	C	C3N-00175_TP	12105	1482176	57135440	1209	11359											
MEX3D	0	.	GRCh38	chr19	1556399	1556399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccctggttgggggtcttggCccagaggctggcggccgccc	2	8	17	14	2	1	1	0	0	1	1	2	1	2	1	4	7	0	2	4	7	0	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1120G>T	p.Ala374Ser	p.A374S	ENST00000402693	2/2	76	68	8	107	107	0	strelka-varscan-mutect	MEX3D,missense_variant,p.Ala374Ser,ENST00000402693,NM_203304.3,NM_001174118.1;MEX3D,missense_variant,p.Ala198Ser,ENST00000605173,;	A	ENST00000402693	Transcript	missense_variant	1120/2850	1120/1956	374/651	A/S	Gcc/Tcc		1		-1	MEX3D	HGNC	HGNC:16734	protein_coding	YES	CCDS32865.2	ENSP00000384398	Q86XN8		UPI000059D61B	NM_203304.3,NM_001174118.1	tolerated(1)		2/2		hmmpanther:PTHR23285,hmmpanther:PTHR23285:SF3																	MODERATE	1	SNV	1			1										PASS		rs1270769445	.												A	3	1	39	1556399	1556399	C	A	1	0	0	0	0	1	0	0	0	9465	739	26	2		2	MEX3D	19	1556399	Missense_Mutation	SNP	C	C3N-00175_TP	74223	1556399	57061217	1210	11360											
LMNB2	0	.	GRCh38	chr19	2434901	2434901	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctggtcagagctcagctTggcgctgtccagctgtgggg	4	11	16	10	1	3	1	2	0	1	1	4	1	4	1	1	4	3	5	1	4	0	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.868A>T	p.Lys290Ter	p.K290*	ENST00000325327	6/12	171	136	35	210	210	0	strelka-varscan-mutect	LMNB2,stop_gained,p.Lys290Ter,ENST00000325327,NM_032737.3;LMNB2,downstream_gene_variant,,ENST00000614319,;LMNB2,non_coding_transcript_exon_variant,,ENST00000527409,;LMNB2,upstream_gene_variant,,ENST00000475819,;LMNB2,upstream_gene_variant,,ENST00000532465,;LMNB2,downstream_gene_variant,,ENST00000534495,;LMNB2,non_coding_transcript_exon_variant,,ENST00000490554,;	A	ENST00000325327	Transcript	stop_gained	931/4671	868/1863	290/620	K/*	Aag/Tag		1		-1	LMNB2	HGNC	HGNC:6638	protein_coding	YES	CCDS12090.2	ENSP00000327054	Q03252	J9JID7	UPI000059D625	NM_032737.3			6/12		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF152,SMART_domains:SM01391																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	39	2434901	2434901	T	A	1	0	0	0	0	0	1	0	0	8774	1821	63	4		4	LMNB2	19	2434901	Nonsense_Mutation	SNP	T	C3N-00175_TP	878502	2434901	56182715	1211	11361											
SLC39A3	0	.	GRCh38	chr19	2733271	2733272	+	Frame_Shift_Del	DEL	CG	CG	-																															ccacgtacagcgcgtggcccCgcgcgccccccatgaagggg																								novel		C3N-00175_TP	C3N-00175_NB	CG	CG																c.424_425delCG	p.Arg142GlyfsTer42	p.R142Gfs*42	ENST00000269740	3/3	72	56	16	108	108	0	sindel-varindel-pindel	SLC39A3,frameshift_variant,p.Arg142GlyfsTer42,ENST00000269740,NM_144564.4;SLC39A3,frameshift_variant,p.Arg142GlyfsTer42,ENST00000545664,;AC006538.4,intron_variant,,ENST00000586572,;SLC39A3,downstream_gene_variant,,ENST00000455372,NM_213568.1;SLC39A3,downstream_gene_variant,,ENST00000589363,;SLC39A3,downstream_gene_variant,,ENST00000589166,;AC006538.1,upstream_gene_variant,,ENST00000567905,;SLC39A3,downstream_gene_variant,,ENST00000590875,;	-	ENST00000269740	Transcript	frameshift_variant	754-755/1502	424-425/945	142/314	R/X	CGg/g		1		-1	SLC39A3	HGNC	HGNC:17128	protein_coding	YES	CCDS12093.1	ENSP00000269740	Q9BRY0		UPI00001B216E	NM_144564.4			3/3		hmmpanther:PTHR11040:SF64,hmmpanther:PTHR11040,Pfam_domain:PF02535																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	39	2733271	2733271	CG	-	1	0	1	0	1	0	0	0	0	14897	652	23	0		0	SLC39A3	19	2733271	Frame_Shift_Del	DEL	CG	C3N-00175_TP	298370	2733271	55884345	1212	11362											
ZNF57	0	.	GRCh38	chr19	2917415	2917415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagagccttcatttatccctCgacatttcaaagacacatga	13	11	6	11	1	2	3	2	1	0	2	4	5	3	3	2	0	1	0	2	0	2	4	rs371789463		C3N-00175_TP	C3N-00175_NB	C	C																c.794C>T	p.Ser265Leu	p.S265L	ENST00000306908	4/4	225	200	25	244	244	0	strelka-varscan-mutect	ZNF57,missense_variant,p.Ser265Leu,ENST00000306908,NM_001319083.1,NM_173480.2;ZNF57,missense_variant,p.Ser267Leu,ENST00000614108,;ZNF57,missense_variant,p.Ser233Leu,ENST00000523428,;ZNF57,downstream_gene_variant,,ENST00000522294,;ZNF57,downstream_gene_variant,,ENST00000590305,;AC006277.2,intron_variant,,ENST00000520090,;	T	ENST00000306908	Transcript	missense_variant	942/2003	794/1668	265/555	S/L	tCg/tTg	rs371789463,COSM4076527	1		1	ZNF57	HGNC	HGNC:13125	protein_coding	YES	CCDS12098.1	ENSP00000303696	Q68EA5	A5HJR3	UPI000006FE5C	NM_001319083.1,NM_173480.2	deleterious(0.04)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF9,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs371789463	.												T	3	4	39	2917415	2917415	C	T	1	0	0	0	0	1	0	0	0	18575	893	31	1		1	ZNF57	19	2917415	Missense_Mutation	SNP	C	C3N-00175_TP	184144	2917415	55700201	1213	11363											
GNA15	0	.	GRCh38	chr19	3151745	3151745	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgcatcaccgaggagggctAcgtccccacagctcaggacg	9	4	13	15	4	2	0	2	0	0	0	3	3	3	2	3	3	2	3	3	3	1	1			C3N-00175_TP	C3N-00175_NB	A	A																c.524A>G	p.Tyr175Cys	p.Y175C	ENST00000262958	4/7	79	74	5	100	100	0	strelka-mutect	GNA15,missense_variant,p.Tyr175Cys,ENST00000262958,NM_002068.3;AC005264.2,intron_variant,,ENST00000587587,;GNA15,3_prime_UTR_variant,,ENST00000592455,;GNA15,non_coding_transcript_exon_variant,,ENST00000586082,;	G	ENST00000262958	Transcript	missense_variant	782/2133	524/1125	175/374	Y/C	tAc/tGc	COSM3959885	1		1	GNA15	HGNC	HGNC:4383	protein_coding	YES	CCDS12104.1	ENSP00000262958	P30679		UPI000003BBCB	NM_002068.3	deleterious(0)		4/7		Gene3D:1.10.400.10,Pfam_domain:PF00503,Prints_domain:PR00318,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF217,SMART_domains:SM00275,Superfamily_domains:SSF47895											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	39	3151745	3151745	A	G	1	0	0	0	0	1	0	0	0	6383	391	14	5		5	GNA15	19	3151745	Missense_Mutation	SNP	A	C3N-00175_TP	234330	3151745	55465871	1214	11364											
NFIC	0	.	GRCh38	chr19	3381797	3381797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacctgcaggcgcggaagcGcaagtacttcaagaagcacg	13	4	12	12	4	1	1	1	0	0	1	1	2	1	2	1	2	5	4	1	2	6	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.116G>T	p.Arg39Leu	p.R39L	ENST00000443272	2/11	285	242	43	382	382	0	strelka-varscan-mutect	NFIC,missense_variant,p.Arg30Leu,ENST00000589123,NM_205843.2;NFIC,missense_variant,p.Arg30Leu,ENST00000395111,NM_001245005.1;NFIC,missense_variant,p.Arg39Leu,ENST00000443272,NM_001245002.1;NFIC,missense_variant,p.Arg39Leu,ENST00000341919,NM_005597.3;NFIC,missense_variant,p.Arg39Leu,ENST00000590282,NM_001245004.1;NFIC,missense_variant,p.Arg30Leu,ENST00000586919,;	T	ENST00000443272	Transcript	missense_variant	167/1716	116/1527	39/508	R/L	cGc/cTc		1		1	NFIC	HGNC	HGNC:7786	protein_coding	YES	CCDS59330.1	ENSP00000396843	P08651		UPI000012FFC8	NM_001245002.1	deleterious(0)		2/11		PROSITE_profiles:PS51080,hmmpanther:PTHR11492,PROSITE_patterns:PS00349,Pfam_domain:PF10524																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	3381797	3381797	G	T	1	0	0	0	0	1	0	0	0	10409	1087	38	1		1	NFIC	19	3381797	Missense_Mutation	SNP	G	C3N-00175_TP	230052	3381797	55235819	1215	11365											
MATK	0	.	GRCh38	chr19	3779792	3779792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggtactcaccctgcaGgacagctggggggtgggggt	6	6	17	12	0	1	0	1	0	0	0	1	1	1	1	3	7	3	3	3	7	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.751C>A	p.Leu251Met	p.L251M	ENST00000395045	9/14	194	146	48	231	231	0	strelka-varscan-mutect	MATK,missense_variant,p.Leu250Met,ENST00000310132,NM_139355.2;MATK,missense_variant,p.Leu251Met,ENST00000395045,NM_002378.3;MATK,missense_variant,p.Leu250Met,ENST00000585778,;MATK,missense_variant,p.Leu209Met,ENST00000395040,NM_139354.2;MATK,missense_variant,p.Leu251Met,ENST00000619596,;MATK,missense_variant,p.Leu165Met,ENST00000590493,;MATK,missense_variant,p.Leu131Met,ENST00000587180,;MATK,missense_variant,p.Leu157Met,ENST00000588983,;MATK,downstream_gene_variant,,ENST00000590028,;MATK,downstream_gene_variant,,ENST00000590849,;AC005777.3,upstream_gene_variant,,ENST00000588332,;	T	ENST00000395045	Transcript	missense_variant	1089/2073	751/1527	251/508	L/M	Ctg/Atg		1		-1	MATK	HGNC	HGNC:6906	protein_coding	YES	CCDS12113.1	ENSP00000378485	P42679		UPI000013FB32	NM_002378.3	tolerated(0.37)		9/14		PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF268,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112,Superfamily_domains:SSF55550																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	3779792	3779792	G	T	1	0	0	0	0	1	0	0	0	9258	1014	35	2		2	MATK	19	3779792	Missense_Mutation	SNP	G	C3N-00175_TP	397995	3779792	54837824	1216	11366											
DAPK3	0	.	GRCh38	chr19	3964896	3964896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccggctcaccccacgcCggctggatgacaggcggcgc	5	4	13	19	5	1	1	1	1	0	0	2	2	2	2	5	5	0	2	5	5	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.158G>T	p.Arg53Leu	p.R53L	ENST00000545797	3/9	220	172	48	304	304	0	strelka-varscan-mutect	DAPK3,missense_variant,p.Arg53Leu,ENST00000545797,NM_001348.2;DAPK3,missense_variant,p.Arg53Leu,ENST00000301264,;DAPK3,missense_variant,p.Arg53Leu,ENST00000596311,;DAPK3,missense_variant,p.Arg53Leu,ENST00000593844,;DAPK3,missense_variant,p.Arg53Leu,ENST00000601824,;DAPK3,upstream_gene_variant,,ENST00000594894,;DAPK3,upstream_gene_variant,,ENST00000385000,;DAPK3,upstream_gene_variant,,ENST00000595279,;	A	ENST00000545797	Transcript	missense_variant	402/2257	158/1365	53/454	R/L	cGg/cTg		1		-1	DAPK3	HGNC	HGNC:2676	protein_coding	YES	CCDS12116.1	ENSP00000442973	O43293		UPI000006F7FA	NM_001348.2	deleterious(0.03)		3/9		Low_complexity_(Seg):seg,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		rs1196349982	.												A	3	1	39	3964896	3964896	C	A	1	0	0	0	0	1	0	0	0	4038	652	23	1		1	DAPK3	19	3964896	Missense_Mutation	SNP	C	C3N-00175_TP	185104	3964896	54652720	1217	11367											
ANKRD24	0	.	GRCh38	chr19	4217793	4217793	+	Frame_Shift_Del	DEL	G	G	-																															cgcggaactgggccgggcacGggacgccgctgaggcccgag																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2635delG	p.Asp879ThrfsTer131	p.D879Tfs*131	ENST00000600132	18/22	36	30	6	37	37	0	sindel-pindel	ANKRD24,frameshift_variant,p.Asp879ThrfsTer131,ENST00000600132,NM_133475.1;ANKRD24,frameshift_variant,p.Asp879ThrfsTer131,ENST00000318934,;ANKRD24,frameshift_variant,p.Asp969ThrfsTer131,ENST00000262970,;ANKRD24,downstream_gene_variant,,ENST00000597689,;ANKRD24,downstream_gene_variant,,ENST00000595096,;	-	ENST00000600132	Transcript	frameshift_variant	2909/4026	2633/3441	878/1146	R/X	cGg/cg		1		1	ANKRD24	HGNC	HGNC:29424	protein_coding	YES	CCDS45925.1	ENSP00000471252	Q8TF21		UPI000041F5A9	NM_133475.1			18/22		Low_complexity_(Seg):seg,hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF16																	HIGH	1	deletion	5	2		1										PASS		.	.												-	7	5	39	4217793	4217793	G	-	1	0	1	0	1	0	0	0	0	756	1116	39	0		0	ANKRD24	19	4217793	Frame_Shift_Del	DEL	G	C3N-00175_TP	252897	4217793	54399823	1218	11368											
CHAF1A	0	.	GRCh38	chr19	4409357	4409357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcaaaacagaggaggaGggtgttggctgtggaggtgc	9	8	18	6	0	0	1	0	0	0	1	0	4	0	4	1	6	3	3	1	6	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.558G>T	p.Glu186Asp	p.E186D	ENST00000301280	3/15	260	185	75	295	294	1	strelka-varscan-mutect	CHAF1A,missense_variant,p.Glu186Asp,ENST00000301280,NM_005483.2;CHAF1A,upstream_gene_variant,,ENST00000587739,;CHAF1A,downstream_gene_variant,,ENST00000585854,;CHAF1A,downstream_gene_variant,,ENST00000587580,;	T	ENST00000301280	Transcript	missense_variant	659/3339	558/2871	186/956	E/D	gaG/gaT		1		1	CHAF1A	HGNC	HGNC:1910	protein_coding	YES	CCDS32875.1	ENSP00000301280	Q13111		UPI000034E58B	NM_005483.2	tolerated(0.29)		3/15		Pfam_domain:PF15557,hmmpanther:PTHR15272,hmmpanther:PTHR15272:SF0,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	4409357	4409357	G	T	1	0	0	0	0	1	0	0	0	3070	991	35	2		2	CHAF1A	19	4409357	Missense_Mutation	SNP	G	C3N-00175_TP	191564	4409357	54208259	1219	11369											
TICAM1	0	.	GRCh38	chr19	4817661	4817661	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccggggacaggctcgggCaccaagctggcctgggggtc	6	4	17	14	2	0	0	0	0	0	0	2	1	0	1	4	7	1	3	4	7	1	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.717G>C	p.=	p.V239V	ENST00000248244	2/2	37	31	6	54	54	0	strelka-varscan-mutect	TICAM1,synonymous_variant,p.=,ENST00000248244,NM_182919.3;TICAM1,synonymous_variant,p.=,ENST00000621756,;	G	ENST00000248244	Transcript	synonymous_variant	947/2676	717/2139	239/712	V	gtG/gtC		1		-1	TICAM1	HGNC	HGNC:18348	protein_coding	YES	CCDS12136.1	ENSP00000248244	Q8IUC6		UPI000000D72E	NM_182919.3			2/2		PIRSF_domain:PIRSF037744																	LOW	1	SNV	1			1										PASS		rs1202295243	.												G	2	3	39	4817661	4817661	C	G	1	0	0	0	0	0	0	0	1	16326	697	25	4		4	TICAM1	19	4817661	Silent	SNP	C	C3N-00175_TP	408304	4817661	53799955	1220	11370											
LONP1	0	.	GRCh38	chr19	5692091	5692091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaggcgatgtcgaagatctCccggtagtgttccacgaagt	10	9	13	9	4	1	1	0	0	1	1	4	5	2	1	2	2	0	2	2	2	4	2	rs146338629		C3N-00175_TP	C3N-00175_NB	C	C																c.2821G>A	p.Glu941Lys	p.E941K	ENST00000360614	18/18	106	93	13	173	173	0	strelka-mutect	LONP1,missense_variant,p.Glu941Lys,ENST00000360614,NM_004793.3;LONP1,missense_variant,p.Glu745Lys,ENST00000540670,NM_001276480.1;LONP1,missense_variant,p.Glu877Lys,ENST00000593119,NM_001276479.1;LONP1,missense_variant,p.Glu827Lys,ENST00000585374,;LONP1,missense_variant,p.Glu811Lys,ENST00000590729,;LONP1,missense_variant,p.Gly232Glu,ENST00000589473,;HSD11B1L,downstream_gene_variant,,ENST00000581521,;HSD11B1L,downstream_gene_variant,,ENST00000581773,;HSD11B1L,downstream_gene_variant,,ENST00000339423,NM_198706.2;HSD11B1L,downstream_gene_variant,,ENST00000342970,NM_198707.2;HSD11B1L,downstream_gene_variant,,ENST00000616276,NM_001267868.1;HSD11B1L,downstream_gene_variant,,ENST00000577917,NM_001267871.1;HSD11B1L,downstream_gene_variant,,ENST00000581893,NM_001267869.1,NM_198708.2;HSD11B1L,downstream_gene_variant,,ENST00000423665,NM_198533.2;HSD11B1L,downstream_gene_variant,,ENST00000301382,NM_198705.2;HSD11B1L,downstream_gene_variant,,ENST00000411793,NM_198704.2;HSD11B1L,downstream_gene_variant,,ENST00000583928,;HSD11B1L,downstream_gene_variant,,ENST00000577257,;RPL36,downstream_gene_variant,,ENST00000577222,;HSD11B1L,downstream_gene_variant,,ENST00000578046,;LONP1,downstream_gene_variant,,ENST00000590206,;RPL36,downstream_gene_variant,,ENST00000347512,NM_033643.2;HSD11B1L,downstream_gene_variant,,ENST00000579559,NM_001267870.1;RPL36,downstream_gene_variant,,ENST00000394580,NM_015414.3;RPL36,downstream_gene_variant,,ENST00000579446,;RPL36,downstream_gene_variant,,ENST00000579649,;RPL36,downstream_gene_variant,,ENST00000582463,;RPL36,downstream_gene_variant,,ENST00000582380,;LONP1,3_prime_UTR_variant,,ENST00000590558,;LONP1,non_coding_transcript_exon_variant,,ENST00000587552,;HSD11B1L,downstream_gene_variant,,ENST00000578167,;HSD11B1L,downstream_gene_variant,,ENST00000579562,;HSD11B1L,downstream_gene_variant,,ENST00000577920,;RPL36,downstream_gene_variant,,ENST00000590786,;HSD11B1L,downstream_gene_variant,,ENST00000582346,;HSD11B1L,downstream_gene_variant,,ENST00000584904,;HSD11B1L,downstream_gene_variant,,ENST00000581423,;HSD11B1L,downstream_gene_variant,,ENST00000578832,;	T	ENST00000360614	Transcript	missense_variant	2979/3236	2821/2880	941/959	E/K	Gag/Aag	rs146338629	1		-1	LONP1	HGNC	HGNC:9479	protein_coding	YES	CCDS12148.1	ENSP00000353826	P36776		UPI000012E7EF	NM_004793.3	tolerated(0.06)		18/18		Gene3D:3.30.230.10,HAMAP:MF_03120,Pfam_domain:PF05362,hmmpanther:PTHR10046,hmmpanther:PTHR10046:SF50,Superfamily_domains:SSF54211,TIGRFAM_domain:TIGR00763																	MODERATE	1	SNV	1			1										PASS		rs146338629	.												T	3	4	39	5692091	5692091	C	T	1	0	0	0	0	1	0	0	0	8794	864	30	3		3	LONP1	19	5692091	Missense_Mutation	SNP	C	C3N-00175_TP	874430	5692091	52925525	1221	11371											
TUBB4A	0	.	GRCh38	chr19	6495771	6495771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcggcgttcagctggcccGggaagcgcaggcaggtggtg	5	6	20	10	4	1	0	1	0	0	0	2	1	1	1	1	7	2	4	1	7	1	1			C3N-00175_TP	C3N-00175_NB	G	G																c.728C>A	p.Pro243Gln	p.P243Q	ENST00000264071	4/4	620	528	92	669	669	0	strelka-varscan-mutect	TUBB4A,missense_variant,p.Pro243Gln,ENST00000264071,NM_001289131.1,NM_006087.3,NM_001289129.1,NM_001289130.1;TUBB4A,missense_variant,p.Pro139Gln,ENST00000594276,;TUBB4A,downstream_gene_variant,,ENST00000597686,NM_001289127.1;TUBB4A,downstream_gene_variant,,ENST00000601152,;TUBB4A,downstream_gene_variant,,ENST00000594075,;TUBB4A,downstream_gene_variant,,ENST00000598006,;TUBB4A,downstream_gene_variant,,ENST00000598635,NM_001289123.1;TUBB4A,downstream_gene_variant,,ENST00000596926,;TUBB4A,downstream_gene_variant,,ENST00000596291,;TUBB4A,downstream_gene_variant,,ENST00000601640,;TUBB4A,downstream_gene_variant,,ENST00000600216,;CTD-2396E7.10,downstream_gene_variant,,ENST00000596027,;CTD-2396E7.9,downstream_gene_variant,,ENST00000599292,;TUBB4A,downstream_gene_variant,,ENST00000595324,;TUBB4A,downstream_gene_variant,,ENST00000594290,;	T	ENST00000264071	Transcript	missense_variant	1100/2552	728/1335	243/444	P/Q	cCg/cAg	COSM5141771	1		-1	TUBB4A	HGNC	HGNC:20774	protein_coding	YES	CCDS12168.1	ENSP00000264071	P04350		UPI000005FC27	NM_001289131.1,NM_006087.3,NM_001289129.1,NM_001289130.1	deleterious_low_confidence(0)		4/4		Gene3D:3.40.50.1440,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF121,SMART_domains:SM00864,Superfamily_domains:SSF52490											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	39	6495771	6495771	G	T	1	0	0	0	0	1	0	0	0	17268	1116	39	1		1	TUBB4A	19	6495771	Missense_Mutation	SNP	G	C3N-00175_TP	803680	6495771	52121845	1222	11372											
VAV1	0	.	GRCh38	chr19	6833925	6833925	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggacaaactacatcgcagGgctcaggacaaaaagaggaa	18	3	11	9	1	1	1	1	0	0	1	2	4	1	4	0	4	2	2	0	4	5	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1749G>A	p.=	p.R583R	ENST00000602142	19/27	242	189	53	261	261	0	strelka-varscan-mutect	VAV1,synonymous_variant,p.=,ENST00000304076,NM_001258206.1;VAV1,synonymous_variant,p.=,ENST00000596764,NM_001258207.1;VAV1,synonymous_variant,p.=,ENST00000599806,;VAV1,synonymous_variant,p.=,ENST00000539284,;VAV1,synonymous_variant,p.=,ENST00000602142,NM_005428.3;VAV1,downstream_gene_variant,,ENST00000601452,;VAV1,upstream_gene_variant,,ENST00000598270,;VAV1,downstream_gene_variant,,ENST00000600396,;VAV1,downstream_gene_variant,,ENST00000597967,;	A	ENST00000602142	Transcript	synonymous_variant	1831/2620	1749/2538	583/845	R	agG/agA		1		1	VAV1	HGNC	HGNC:12657	protein_coding	YES	CCDS12174.1	ENSP00000472929	P15498		UPI0000138213	NM_005428.3			19/27		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF97																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	6833925	6833925	G	A	1	0	0	0	0	0	0	0	1	17676	1223	43	3		3	VAV1	19	6833925	Silent	SNP	G	C3N-00175_TP	338154	6833925	51783691	1223	11373											
ADGRE1	0	.	GRCh38	chr19	6913731	6913731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggaagagacgtcctccCtggccacagtcttcctggag	9	7	11	14	1	1	1	0	0	1	1	4	4	4	3	5	3	0	0	5	3	2	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1201C>A	p.Leu401Met	p.L401M	ENST00000312053	11/21	108	94	14	142	142	0	strelka-varscan-mutect	ADGRE1,missense_variant,p.Leu401Met,ENST00000312053,NM_001974.4;ADGRE1,missense_variant,p.Leu349Met,ENST00000381404,NM_001256252.1;ADGRE1,missense_variant,p.Leu401Met,ENST00000250572,NM_001256253.1;ADGRE1,missense_variant,p.Leu260Met,ENST00000381407,NM_001256254.1;ADGRE1,missense_variant,p.Leu224Met,ENST00000450315,NM_001256255.1;ADGRE1,missense_variant,p.Leu318Met,ENST00000595026,;	A	ENST00000312053	Transcript	missense_variant	1238/3128	1201/2661	401/886	L/M	Ctg/Atg		1		1	ADGRE1	HGNC	HGNC:3336	protein_coding	YES	CCDS12175.1	ENSP00000311545	Q14246		UPI0000203241	NM_001974.4	deleterious(0.05)		11/21		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF303																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	6913731	6913731	C	A	1	0	0	0	0	1	0	0	0	359	680	24	2		2	ADGRE1	19	6913731	Missense_Mutation	SNP	C	C3N-00175_TP	79806	6913731	51703885	1224	11374											
ZNF414	0	.	GRCh38	chr19	8513215	8513215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcctgctcagggcctggctCctccgacatggaggaggaag	7	7	15	12	1	1	0	1	0	0	0	3	4	3	3	4	5	2	2	4	5	1	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.130G>C	p.Glu44Gln	p.E44Q	ENST00000393927	2/8	241	203	38	293	293	0	strelka-varscan-mutect	ZNF414,missense_variant,p.Glu44Gln,ENST00000393927,NM_001146175.1;ZNF414,missense_variant,p.Glu44Gln,ENST00000255616,NM_032370.2;ZNF414,upstream_gene_variant,,ENST00000596772,;ZNF414,upstream_gene_variant,,ENST00000593661,;ZNF414,upstream_gene_variant,,ENST00000594748,;ZNF414,non_coding_transcript_exon_variant,,ENST00000600906,;ZNF414,intron_variant,,ENST00000599379,;ZNF414,upstream_gene_variant,,ENST00000602128,;ZNF414,upstream_gene_variant,,ENST00000595348,;	G	ENST00000393927	Transcript	missense_variant	244/2300	130/1173	44/390	E/Q	Gag/Cag		1		-1	ZNF414	HGNC	HGNC:20630	protein_coding	YES	CCDS54211.1	ENSP00000377504	Q96IQ9		UPI000059D659	NM_001146175.1	deleterious_low_confidence(0.02)		2/8		hmmpanther:PTHR21695,hmmpanther:PTHR21695:SF0,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1305563601	.												G	3	3	39	8513215	8513215	C	G	1	0	0	0	0	1	0	0	0	18463	864	30	4		4	ZNF414	19	8513215	Missense_Mutation	SNP	C	C3N-00175_TP	1599484	8513215	50104401	1225	11375											
ADAMTS10	0	.	GRCh38	chr19	8585608	8585608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacacgaccgagcggctgcGcacgcctgcatcgcagctgc	7	4	13	17	6	0	0	0	0	0	0	1	2	0	0	2	1	5	6	2	1	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2713C>A	p.Arg905Ser	p.R905S	ENST00000270328	22/25	110	87	23	123	123	0	strelka-varscan-mutect	ADAMTS10,missense_variant,p.Arg905Ser,ENST00000270328,;ADAMTS10,missense_variant,p.Arg905Ser,ENST00000597188,NM_030957.3;ADAMTS10,missense_variant,p.Arg392Ser,ENST00000595838,NM_001282352.1;AC130469.2,downstream_gene_variant,,ENST00000597256,;ADAMTS10,3_prime_UTR_variant,,ENST00000596851,;ADAMTS10,3_prime_UTR_variant,,ENST00000593913,;ADAMTS10,downstream_gene_variant,,ENST00000603221,;ADAMTS10,downstream_gene_variant,,ENST00000593826,;ADAMTS10,downstream_gene_variant,,ENST00000596911,;ADAMTS10,downstream_gene_variant,,ENST00000596236,;	T	ENST00000270328	Transcript	missense_variant	2944/4194	2713/3312	905/1103	R/S	Cgc/Agc		1		-1	ADAMTS10	HGNC	HGNC:13201	protein_coding	YES	CCDS12206.1	ENSP00000270328		A0A0A0MQW6	UPI00025D3090		deleterious(0.03)		22/25		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF26,Low_complexity_(Seg):seg,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	8585608	8585608	G	T	1	0	0	0	0	1	0	0	0	300	1087	38	1		1	ADAMTS10	19	8585608	Missense_Mutation	SNP	G	C3N-00175_TP	72393	8585608	50032008	1226	11376											
ADAMTS10	0	.	GRCh38	chr19	8597121	8597121	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcccggcatggtgggtgatCtccagagtgggctggggatg	5	10	18	8	1	1	2	0	1	1	1	3	3	2	3	2	6	0	2	2	6	0	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.906G>A	p.=	p.E302E	ENST00000270328	7/25	262	239	23	323	323	0	strelka-varscan-mutect	ADAMTS10,synonymous_variant,p.=,ENST00000270328,;ADAMTS10,synonymous_variant,p.=,ENST00000597188,NM_030957.3;ADAMTS10,upstream_gene_variant,,ENST00000595838,NM_001282352.1;ADAMTS10,downstream_gene_variant,,ENST00000596709,;ADAMTS10,downstream_gene_variant,,ENST00000596466,;ADAMTS10,3_prime_UTR_variant,,ENST00000596851,;ADAMTS10,3_prime_UTR_variant,,ENST00000593913,;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000601163,;ADAMTS10,upstream_gene_variant,,ENST00000603221,;ADAMTS10,upstream_gene_variant,,ENST00000593826,;ADAMTS10,upstream_gene_variant,,ENST00000601872,;ADAMTS10,upstream_gene_variant,,ENST00000596236,;	T	ENST00000270328	Transcript	synonymous_variant	1137/4194	906/3312	302/1103	E	gaG/gaA		1		-1	ADAMTS10	HGNC	HGNC:13201	protein_coding	YES	CCDS12206.1	ENSP00000270328		A0A0A0MQW6	UPI00025D3090				7/25		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF26,Superfamily_domains:SSF55486																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	39	8597121	8597121	C	T	1	0	0	0	0	0	0	0	1	300	912	32	3		3	ADAMTS10	19	8597121	Silent	SNP	C	C3N-00175_TP	11513	8597121	50020495	1227	11377											
ACTL9	0	.	GRCh38	chr19	8697516	8697516	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcccgcaggacccagcAggactggaaggcgcgcaggg	8	3	16	14	3	0	0	0	0	0	0	1	3	1	3	2	5	2	4	2	5	1	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1186T>C	p.Cys396Arg	p.C396R	ENST00000324436	1/1	84	74	10	124	124	0	strelka-mutect	ACTL9,missense_variant,p.Cys396Arg,ENST00000324436,NM_178525.4;ACTL9,missense_variant,p.Cys396Arg,ENST00000612068,;AC093230.2,upstream_gene_variant,,ENST00000623340,;	G	ENST00000324436	Transcript	missense_variant	1307/1426	1186/1251	396/416	C/R	Tgc/Cgc		1		-1	ACTL9	HGNC	HGNC:28494	protein_coding	YES	CCDS12207.1	ENSP00000316674	Q8TC94		UPI000000DB15	NM_178525.4	tolerated(0.09)		1/1		hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF194,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	39	8697516	8697516	A	G	1	0	0	0	0	1	0	0	0	247	188	7	5		5	ACTL9	19	8697516	Missense_Mutation	SNP	A	C3N-00175_TP	100395	8697516	49920100	1228	11378											
MUC16	0	.	GRCh38	chr19	8923049	8923049	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaatggcaccatgaatGggactgtggctgctgcaagg	9	8	17	7	0	0	2	0	2	0	0	0	3	0	3	1	5	2	4	1	5	3	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.36212C>G	p.Pro12071Arg	p.P12071R	ENST00000397910	9/84	161	121	40	145	145	0	strelka-varscan-mutect	MUC16,missense_variant,p.Pro12071Arg,ENST00000397910,NM_024690.2;	C	ENST00000397910	Transcript	missense_variant	36416/43816	36212/43524	12071/14507	P/R	cCa/cGa		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			9/84		hmmpanther:PTHR14672,Gene3D:1ivzA00,SMART_domains:SM00200,Superfamily_domains:0047452																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	39	8923049	8923049	G	C	1	0	0	0	0	1	0	0	0	9972	1348	47	4		4	MUC16	19	8923049	Missense_Mutation	SNP	G	C3N-00175_TP	225533	8923049	49694567	1229	11379											
OR7D4	0	.	GRCh38	chr19	9214255	9214255	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatacaagacaatgttatTgaggagggtgttagagcagg	14	9	13	5	0	0	3	0	1	0	2	0	4	0	4	0	3	2	3	0	3	5	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.583A>T	p.Asn195Tyr	p.N195Y	ENST00000308682	1/1	287	240	47	297	296	1	strelka-varscan-mutect	OR7D4,missense_variant,p.Asn195Tyr,ENST00000308682,NM_001005191.2;	A	ENST00000308682	Transcript	missense_variant	617/1022	583/939	195/312	N/Y	Aat/Tat		1		-1	OR7D4	HGNC	HGNC:8380	protein_coding	YES	CCDS32901.1	ENSP00000310488	Q8NG98	A0A126GVR1	UPI00000472B5	NM_001005191.2	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF371,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	9214255	9214255	T	A	1	0	0	0	0	1	0	0	0	11290	1812	63	4		4	OR7D4	19	9214255	Missense_Mutation	SNP	T	C3N-00175_TP	291206	9214255	49403361	1230	11380											
OR7D4	0	.	GRCh38	chr19	9214420	9214420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaaccaggaggccacagaGgcaggggttcatgatgaccg	12	4	15	10	1	1	4	1	2	0	2	1	5	1	5	3	5	1	2	3	5	1	1	rs368945619		C3N-00175_TP	C3N-00175_NB	G	G																c.418C>A	p.Leu140Ile	p.L140I	ENST00000308682	1/1	289	213	76	355	354	1	strelka-varscan-mutect	OR7D4,missense_variant,p.Leu140Ile,ENST00000308682,NM_001005191.2;	T	ENST00000308682	Transcript	missense_variant	452/1022	418/939	140/312	L/I	Ctc/Atc	rs368945619	1		-1	OR7D4	HGNC	HGNC:8380	protein_coding	YES	CCDS32901.1	ENSP00000310488	Q8NG98	A0A126GVR1	UPI00000472B5	NM_001005191.2	deleterious(0.03)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF371,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs368945619	.												T	3	4	39	9214420	9214420	G	T	1	0	0	0	0	1	0	0	0	11290	1000	35	2		2	OR7D4	19	9214420	Missense_Mutation	SNP	G	C3N-00175_TP	165	9214420	49403196	1231	11381											
ZNF699	0	.	GRCh38	chr19	9296383	9296384	+	Frame_Shift_Ins	INS	-	-	A																															gaagagctaaaggccttcccINSacattccttacattcatatg																								novel		C3N-00175_TP	C3N-00175_NB	-	-																c.1020dupT	p.Gly341TrpfsTer5	p.G341Wfs*5	ENST00000591998	6/6	82	70	12	130	130	0	sindel-varindel-pindel	ZNF699,frameshift_variant,p.Gly341TrpfsTer5,ENST00000591998,;ZNF699,frameshift_variant,p.Gly341TrpfsTer5,ENST00000308650,NM_198535.1;CTC-325H20.4,downstream_gene_variant,,ENST00000591336,;	A	ENST00000591998	Transcript	frameshift_variant	1249-1250/3358	1020-1021/1929	340-341/642	-/X	-/T		1		-1	ZNF699	HGNC	HGNC:24750	protein_coding	YES	CCDS42495.1	ENSP00000467723	Q32M78		UPI00001D825F				6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF132,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH		insertion	5			1										PASS		.	.												A	7	5	39	9296383	9296383	-	A	1	0	1	1	0	0	0	0	0	18674	594	21	0		0	ZNF699	19	9296383	Frame_Shift_Ins	INS	-	C3N-00175_TP	81963	9296383	49321233	1232	11382											
CNN1	0	.	GRCh38	chr19	11538964	11538964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccgaggccctgcctacGggctgtcagccgaggttaag	8	7	13	13	3	2	0	2	0	0	0	2	2	2	0	4	3	4	2	4	3	3	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.37G>A	p.Gly13Arg	p.G13R	ENST00000252456	1/7	56	41	15	95	95	0	strelka-mutect	CNN1,missense_variant,p.Gly13Arg,ENST00000252456,NM_001299.4;CNN1,5_prime_UTR_variant,,ENST00000592923,NM_001308341.1,NM_001308342.1;CNN1,5_prime_UTR_variant,,ENST00000535659,;CNN1,upstream_gene_variant,,ENST00000586059,;CNN1,upstream_gene_variant,,ENST00000585869,;CNN1,upstream_gene_variant,,ENST00000587087,;CNN1,non_coding_transcript_exon_variant,,ENST00000588468,;	A	ENST00000252456	Transcript	missense_variant	248/1633	37/894	13/297	G/R	Ggg/Agg		1		1	CNN1	HGNC	HGNC:2155	protein_coding	YES	CCDS12263.1	ENSP00000252456	P51911	V9HWA5	UPI0000127AE3	NM_001299.4	tolerated(0.13)		1/7		hmmpanther:PTHR18959,hmmpanther:PTHR18959:SF43,Superfamily_domains:SSF47576,Prints_domain:PR00888																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	11538964	11538964	G	A	1	0	0	0	0	1	0	0	0	3389	1116	39	1		1	CNN1	19	11538964	Missense_Mutation	SNP	G	C3N-00175_TP	2242581	11538964	47078652	1233	11383											
CASP14	0	.	GRCh38	chr19	15053570	15053570	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagaagacctggatgctcTggaacacatgtttcggcagc	11	8	12	10	2	1	2	0	0	1	2	2	5	1	4	1	3	3	3	1	3	3	1	rs750592871		C3N-00175_TP	C3N-00175_NB	T	T																c.116T>A	p.Leu39Gln	p.L39Q	ENST00000427043	3/7	312	240	72	339	338	1	strelka-varscan-mutect	CASP14,missense_variant,p.Leu39Gln,ENST00000427043,NM_012114.2;CASP14,upstream_gene_variant,,ENST00000598738,;	A	ENST00000427043	Transcript	missense_variant	424/3241	116/729	39/242	L/Q	cTg/cAg	rs750592871	1		1	CASP14	HGNC	HGNC:1502	protein_coding	YES	CCDS12323.1	ENSP00000393417	P31944	B2CIS9	UPI0000044176	NM_012114.2	deleterious(0)		3/7		PROSITE_profiles:PS50208,hmmpanther:PTHR10454:SF131,hmmpanther:PTHR10454,Gene3D:3.40.50.1460,Pfam_domain:PF00656,SMART_domains:SM00115,Superfamily_domains:SSF52129,Prints_domain:PR00376																	MODERATE	1	SNV	1			1										PASS		rs750592871	.												A	3	1	39	15053570	15053570	T	A	1	0	0	0	0	1	0	0	0	2370	1580	55	4		4	CASP14	19	15053570	Missense_Mutation	SNP	T	C3N-00175_TP	3514606	15053570	43564046	1234	11384											
NWD1	0	.	GRCh38	chr19	16773240	16773240	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggttccagttgtgcgCacaccctgtgctggtgcccc	4	10	13	14	1	0	0	0	0	0	0	1	1	1	0	4	2	4	5	4	2	0	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2525C>G	p.Ala842Gly	p.A842G	ENST00000524140	11/19	389	309	80	398	398	0	strelka-varscan-mutect	NWD1,missense_variant,p.Ala842Gly,ENST00000524140,NM_001007525.3;NWD1,missense_variant,p.Ala842Gly,ENST00000379808,;NWD1,missense_variant,p.Ala842Gly,ENST00000552788,NM_001290355.1;NWD1,missense_variant,p.Ala842Gly,ENST00000549814,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;	G	ENST00000524140	Transcript	missense_variant	2943/7641	2525/4299	842/1432	A/G	gCa/gGa		1		1	NWD1	HGNC	HGNC:27619	protein_coding	YES	CCDS32945.2	ENSP00000428579	Q149M9		UPI0000D6173E	NM_001007525.3	deleterious(0.04)		11/19		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF472																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	16773240	16773240	C	G	1	0	0	0	0	1	0	0	0	10854	710	25	4		4	NWD1	19	16773240	Missense_Mutation	SNP	C	C3N-00175_TP	1719670	16773240	41844376	1235	11385											
SIN3B	0	.	GRCh38	chr19	16877587	16877587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgtggggaccgagggcGcgtccagctcgcccactgag	7	6	16	12	4	0	1	0	1	0	0	2	3	1	2	3	3	1	2	3	3	1	1	rs566655086		C3N-00175_TP	C3N-00175_NB	G	G																c.2998G>T	p.Ala1000Ser	p.A1000S	ENST00000379803	18/20	215	180	35	328	327	1	strelka-varscan-mutect	SIN3B,missense_variant,p.Ala1000Ser,ENST00000379803,NM_015260.3;SIN3B,missense_variant,p.Ala968Ser,ENST00000248054,NM_001297595.1;SIN3B,missense_variant,p.Ala558Ser,ENST00000595541,NM_001297597.1;SIN3B,non_coding_transcript_exon_variant,,ENST00000594235,;SIN3B,downstream_gene_variant,,ENST00000595900,;SIN3B,non_coding_transcript_exon_variant,,ENST00000601141,;SIN3B,non_coding_transcript_exon_variant,,ENST00000595049,;	T	ENST00000379803	Transcript	missense_variant	3012/5129	2998/3489	1000/1162	A/S	Gcg/Tcg	rs566655086,COSM4580763	1		1	SIN3B	HGNC	HGNC:19354	protein_coding	YES	CCDS32946.1	ENSP00000369131	O75182		UPI0000425EFA	NM_015260.3	tolerated(0.33)		18/20		hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF1,Pfam_domain:PF16879											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs566655086	.												T	3	4	39	16877587	16877587	G	T	1	0	0	0	0	1	0	0	0	14590	1087	38	1		1	SIN3B	19	16877587	Missense_Mutation	SNP	G	C3N-00175_TP	104347	16877587	41740029	1236	11386											
SLC5A5	0	.	GRCh38	chr19	17872406	17872406	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcctggtgtccactggCatcgggctgtgggtcgggct	3	11	16	11	2	0	0	0	0	0	0	4	0	2	0	2	5	1	4	2	5	0	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.87C>A	p.=	p.G29G	ENST00000222248	1/15	76	61	15	116	116	0	strelka-varscan-mutect	SLC5A5,synonymous_variant,p.=,ENST00000222248,NM_000453.2;AC005796.2,upstream_gene_variant,,ENST00000623214,;	A	ENST00000222248	Transcript	synonymous_variant	434/3576	87/1932	29/643	G	ggC/ggA		1		1	SLC5A5	HGNC	HGNC:11040	protein_coding	YES	CCDS12368.1	ENSP00000222248	Q92911		UPI00001359F6	NM_000453.2			1/15		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF18																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	17872406	17872406	C	A	1	0	0	0	0	0	0	0	1	14951	697	25	2		2	SLC5A5	19	17872406	Silent	SNP	C	C3N-00175_TP	994819	17872406	40745210	1237	11387											
IL12RB1	0	.	GRCh38	chr19	18082249	18082249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatagcatctcaggtccctaGggcccgaggccgagcctgga	8	6	14	13	2	1	0	1	0	1	0	3	4	2	1	4	4	2	1	4	4	2	2	rs756640017		C3N-00175_TP	C3N-00175_NB	G	G																c.140C>A	p.Pro47His	p.P47H	ENST00000600835	4/18	403	359	44	448	447	1	strelka-varscan-mutect	IL12RB1,missense_variant,p.Pro47His,ENST00000600835,NM_001290024.1;IL12RB1,missense_variant,p.Pro47His,ENST00000593993,NM_001290023.1,NM_005535.2;IL12RB1,missense_variant,p.Pro47His,ENST00000322153,NM_153701.2;IL12RB1,missense_variant,p.Pro47His,ENST00000598019,;IL12RB1,missense_variant,p.Pro47His,ENST00000594176,;IL12RB1,missense_variant,p.Pro51His,ENST00000430026,;IL12RB1,downstream_gene_variant,,ENST00000597416,;	T	ENST00000600835	Transcript	missense_variant	439/2901	140/1989	47/662	P/H	cCt/cAt	rs756640017	1		-1	IL12RB1	HGNC	HGNC:5971	protein_coding	YES	CCDS54232.1	ENSP00000470788	P42701		UPI00000502CE	NM_001290024.1	deleterious(0)		4/18		PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF51,hmmpanther:PTHR23036																	MODERATE	1	SNV	1			1										PASS		rs756640017	.												T	3	4	39	18082249	18082249	G	T	1	0	0	0	0	1	0	0	0	7534	1000	35	2		2	IL12RB1	19	18082249	Missense_Mutation	SNP	G	C3N-00175_TP	209843	18082249	40535367	1238	11388											
TMEM59L	0	.	GRCh38	chr19	18613106	18613106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcggtgccgcgaccgcGacctcggcccgcagccctcg	4	4	14	19	8	0	0	0	0	0	0	2	2	0	0	5	2	4	2	5	2	0	0	rs11538357		C3N-00175_TP	C3N-00175_NB	G	G																c.148G>T	p.Asp50Tyr	p.D50Y	ENST00000600490	2/9	23	19	4	23	23	0	strelka-mutect	TMEM59L,missense_variant,p.Asp50Tyr,ENST00000600490,;TMEM59L,missense_variant,p.Asp50Tyr,ENST00000262817,NM_012109.2;TMEM59L,upstream_gene_variant,,ENST00000594709,;TMEM59L,non_coding_transcript_exon_variant,,ENST00000598660,;TMEM59L,non_coding_transcript_exon_variant,,ENST00000594859,;	T	ENST00000600490	Transcript	missense_variant	333/1717	148/1029	50/342	D/Y	Gac/Tac	rs11538357	1		1	TMEM59L	HGNC	HGNC:13237	protein_coding	YES	CCDS12383.1	ENSP00000470879	Q9UK28	A0A024R7L4	UPI0000034024		tolerated(1)		2/9		hmmpanther:PTHR28652:SF1,hmmpanther:PTHR28652																	MODERATE	1	SNV	5			1										PASS		rs11538357	.												T	3	4	39	18613106	18613106	G	T	1	0	0	0	0	1	0	0	0	16662	1058	37	1		1	TMEM59L	19	18613106	Missense_Mutation	SNP	G	C3N-00175_TP	530857	18613106	40004510	1239	11389											
ZNF66	0	.	GRCh38	chr19	20806717	20806717	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccctacaaatgtgaaGaatgtggtgaagcctttaag	16	9	10	6	0	0	4	0	2	0	2	0	4	0	4	2	1	3	0	2	1	7	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1117G>T	p.Glu373Ter	p.E373*	ENST00000344519	4/4	84	65	19	134	134	0	strelka-varscan-mutect	ZNF66,stop_gained,p.Glu373Ter,ENST00000344519,;	T	ENST00000344519	Transcript	stop_gained	1140/1745	1117/1722	373/573	E/*	Gaa/Taa		1		1	ZNF66	HGNC	HGNC:13135	protein_coding	YES		ENSP00000461425	Q6ZN08		UPI00025A2C0A				4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	3			1										PASS		.	.												T	4	4	39	20806717	20806717	G	T	1	0	0	0	0	0	1	0	0	18643	943	33	2		2	ZNF66	19	20806717	Nonsense_Mutation	SNP	G	C3N-00175_TP	2193611	20806717	37810899	1240	11390											
ZNF431	0	.	GRCh38	chr19	21143608	21143608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagtggatgccctggggctGagaggaatcttctagtttac	9	11	13	8	0	2	1	0	1	2	1	2	4	2	3	1	4	2	2	1	4	4	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.61G>A	p.Glu21Lys	p.E21K	ENST00000311048	2/5	179	163	16	183	183	0	strelka-varscan-mutect	ZNF431,missense_variant,p.Glu21Lys,ENST00000311048,NM_133473.2;ZNF431,missense_variant,p.Glu21Lys,ENST00000600692,;ZNF431,missense_variant,p.Glu21Lys,ENST00000598331,;ZNF431,missense_variant,p.Glu21Lys,ENST00000594425,;ZNF431,missense_variant,p.Glu21Lys,ENST00000599296,;	A	ENST00000311048	Transcript	missense_variant	205/13894	61/1731	21/576	E/K	Gag/Aag		1		1	ZNF431	HGNC	HGNC:20809	protein_coding	YES	CCDS32979.1	ENSP00000308578	Q8TF32	A0A024R7Q8	UPI0000191EAC	NM_133473.2	tolerated_low_confidence(0.52)		2/5																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	21143608	21143608	G	A	1	0	0	0	0	1	0	0	0	18477	1291	45	3		3	ZNF431	19	21143608	Missense_Mutation	SNP	G	C3N-00175_TP	336891	21143608	37474008	1241	11391											
ZNF100	0	.	GRCh38	chr19	21726677	21726677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtaaaaggctttgccaCatttttcacatttgtagggt	10	15	9	7	0	1	0	1	0	0	0	1	0	1	0	1	3	1	3	1	3	3	6	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1628G>T	p.Cys543Phe	p.C543F	ENST00000608416	6/8	44	37	7	48	48	0	strelka-varscan-mutect	ZNF100,missense_variant,p.Cys543Phe,ENST00000608416,;ZNF100,3_prime_UTR_variant,,ENST00000358296,NM_173531.3;ZNF100,3_prime_UTR_variant,,ENST00000305570,;ZNF100,downstream_gene_variant,,ENST00000594401,;	A	ENST00000608416	Transcript	missense_variant	1697/1840	1628/1701	543/566	C/F	tGt/tTt		1		-1	ZNF100	HGNC	HGNC:12880	protein_coding			ENSP00000476534		A0A075B7G6	UPI0004E4CA8A		deleterious(0.01)		6/8		PROSITE_profiles:PS50157,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	39	21726677	21726677	C	A	1	0	0	0	0	1	0	0	0	18292	478	17	2		2	ZNF100	19	21726677	Missense_Mutation	SNP	C	C3N-00175_TP	583069	21726677	36890939	1242	11392											
ZNF729	0	.	GRCh38	chr19	22313862	22313862	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaccaatgcaggacagctAcccagagaaaaatatttcag	17	8	7	9	0	1	1	1	0	0	1	1	3	1	2	2	1	4	2	2	1	6	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.445A>C	p.Thr149Pro	p.T149P	ENST00000601693	4/4	46	30	16	69	69	0	strelka-varscan-mutect	ZNF729,missense_variant,p.Thr149Pro,ENST00000601693,NM_001242680.1;	C	ENST00000601693	Transcript	missense_variant	563/3877	445/3759	149/1252	T/P	Acc/Ccc		1		1	ZNF729	HGNC	HGNC:32464	protein_coding	YES	CCDS59368.1	ENSP00000469582	A6NN14		UPI000042600C	NM_001242680.1	tolerated(0.1)		4/4																			MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	39	22313862	22313862	A	C	1	0	0	0	0	1	0	0	0	18703	391	14	5		5	ZNF729	19	22313862	Missense_Mutation	SNP	A	C3N-00175_TP	587185	22313862	36303754	1243	11393											
ZNF98	0	.	GRCh38	chr19	22391748	22391748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggactggttaaaagctttgCcacattcttcacatttgtag	11	14	8	8	0	2	0	1	0	1	0	2	1	2	1	1	2	2	3	1	2	3	6			C3N-00175_TP	C3N-00175_NB	C	C																c.1487G>A	p.Gly496Asp	p.G496D	ENST00000357774	4/4	183	150	33	202	201	1	strelka-varscan-mutect	ZNF98,missense_variant,p.Gly496Asp,ENST00000357774,NM_001098626.1;ZNF98,downstream_gene_variant,,ENST00000593657,;	T	ENST00000357774	Transcript	missense_variant	1609/2338	1487/1719	496/572	G/D	gGc/gAc	COSM1271942,COSM1271943	1		-1	ZNF98	HGNC	HGNC:13174	protein_coding	YES	CCDS46031.1	ENSP00000350418	A6NK75		UPI0000251DC5	NM_001098626.1	tolerated(0.05)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1,1						MODERATE	1	SNV	3		1,1	1										PASS		.	.												T	3	4	39	22391748	22391748	C	T	1	0	0	0	0	1	0	0	0	18796	739	26	3		3	ZNF98	19	22391748	Missense_Mutation	SNP	C	C3N-00175_TP	77886	22391748	36225868	1244	11394											
VSTM2B	0	.	GRCh38	chr19	29528454	29528454	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taacaaataaggatgcaactAaaatcagcgtaagtgtggag	18	8	10	5	1	1	0	1	0	0	0	1	2	1	2	0	2	4	2	0	2	7	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.289A>T	p.Lys97Ter	p.K97*	ENST00000335523	3/5	165	135	30	222	222	0	strelka-varscan-mutect	VSTM2B,stop_gained,p.Lys97Ter,ENST00000335523,NM_001146339.1;CTC-525D6.1,upstream_gene_variant,,ENST00000582581,;CTC-525D6.2,upstream_gene_variant,,ENST00000579268,;CTC-525D6.1,upstream_gene_variant,,ENST00000577849,;	T	ENST00000335523	Transcript	stop_gained	374/1488	289/858	97/285	K/*	Aaa/Taa		1		1	VSTM2B	HGNC	HGNC:33595	protein_coding	YES	CCDS46034.1	ENSP00000335038	A6NLU5		UPI00001D8158	NM_001146339.1			3/5		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF23,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH		SNV	5			1										PASS		.	.												T	4	4	39	29528454	29528454	A	T	1	0	0	0	0	0	1	0	0	17781	363	13	4		4	VSTM2B	19	29528454	Nonsense_Mutation	SNP	A	C3N-00175_TP	7136706	29528454	29089162	1245	11395											
ZNF536	0	.	GRCh38	chr19	30549437	30549437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcagggcctacagttCtgatggcttagcagccttta	7	12	11	11	0	2	1	1	1	1	0	3	1	3	1	3	3	3	3	3	3	3	5	rs866481206		C3N-00175_TP	C3N-00175_NB	C	C																c.3818C>A	p.Ser1273Tyr	p.S1273Y	ENST00000355537	4/5	21	14	7	27	27	0	strelka-varscan-mutect	ZNF536,missense_variant,p.Ser1273Tyr,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.Ser31Tyr,ENST00000592773,;ZNF536,downstream_gene_variant,,ENST00000585628,;CTD-2001J20.1,upstream_gene_variant,,ENST00000623331,;	A	ENST00000355537	Transcript	missense_variant	3965/4945	3818/3903	1273/1300	S/Y	tCt/tAt	rs866481206	1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	deleterious_low_confidence(0)		4/5																			MODERATE	1	SNV	1			1										PASS		rs866481206	.												A	3	1	39	30549437	30549437	C	A	1	0	0	0	0	1	0	0	0	18547	913	32	2		2	ZNF536	19	30549437	Missense_Mutation	SNP	C	C3N-00175_TP	1020983	30549437	28068179	1246	11396											
DPY19L3	0	.	GRCh38	chr19	32480419	32480419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttatcagatatatgccaaGagggcaccagaggaagtgca	14	8	12	7	0	1	3	1	0	0	3	1	4	1	4	2	2	2	3	2	2	5	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1851G>T	p.Lys617Asn	p.K617N	ENST00000342179	18/19	88	66	22	109	109	0	strelka-varscan-mutect	DPY19L3,missense_variant,p.Lys617Asn,ENST00000342179,NM_207325.2;DPY19L3,missense_variant,p.Lys617Asn,ENST00000392250,NM_001172774.1;DPY19L3,missense_variant,p.Lys617Asn,ENST00000586987,;DPY19L3,3_prime_UTR_variant,,ENST00000588648,;DPY19L3,3_prime_UTR_variant,,ENST00000592832,;DPY19L3,non_coding_transcript_exon_variant,,ENST00000592142,;DPY19L3,non_coding_transcript_exon_variant,,ENST00000608291,;	T	ENST00000342179	Transcript	missense_variant	2066/6015	1851/2151	617/716	K/N	aaG/aaT		1		1	DPY19L3	HGNC	HGNC:27120	protein_coding	YES	CCDS12422.1	ENSP00000344937	Q6ZPD9		UPI00001C10BE	NM_207325.2	tolerated(0.07)		18/19		hmmpanther:PTHR31488:SF4,hmmpanther:PTHR31488,Pfam_domain:PF10034																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	32480419	32480419	G	T	1	0	0	0	0	1	0	0	0	4557	933	33	2		2	DPY19L3	19	32480419	Missense_Mutation	SNP	G	C3N-00175_TP	1930982	32480419	26137197	1247	11397											
CHST8	0	.	GRCh38	chr19	33689292	33689292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacctggaacaatgcggctgGcctgcatgttctcttccatc	7	11	10	13	1	1	0	0	0	1	0	4	2	2	1	3	3	3	3	3	3	2	2	rs754261375		C3N-00175_TP	C3N-00175_NB	G	G																c.31G>T	p.Ala11Ser	p.A11S	ENST00000262622	2/4	75	58	17	91	91	0	strelka-varscan-mutect	CHST8,missense_variant,p.Ala11Ser,ENST00000262622,NM_022467.3;CHST8,missense_variant,p.Ala11Ser,ENST00000434302,NM_001127895.1;CHST8,missense_variant,p.Ala11Ser,ENST00000438847,NM_001127896.1;CHST8,missense_variant,p.Ala11Ser,ENST00000591231,;CHST8,non_coding_transcript_exon_variant,,ENST00000604556,;	T	ENST00000262622	Transcript	missense_variant	789/2479	31/1275	11/424	A/S	Gcc/Tcc	rs754261375	1		1	CHST8	HGNC	HGNC:15993	protein_coding	YES	CCDS12433.1	ENSP00000262622	Q9H2A9		UPI000006F966	NM_022467.3	tolerated(0.27)		2/4		hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF7,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs754261375	.												T	3	4	39	33689292	33689292	G	T	1	0	0	0	0	1	0	0	0	3170	1203	42	2		2	CHST8	19	33689292	Missense_Mutation	SNP	G	C3N-00175_TP	1208873	33689292	24928324	1248	11398											
KMT2B	0	.	GRCh38	chr19	35721548	35721548	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaacgggccacagacacAggctcagctactgcagcccc	11	3	11	16	1	1	1	1	0	0	1	1	2	1	1	3	2	6	4	3	2	2	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2201A>T	p.Gln734Leu	p.Q734L	ENST00000420124	3/37	185	137	48	195	195	0	strelka-varscan-mutect	KMT2B,missense_variant,p.Gln734Leu,ENST00000420124,NM_014727.2;ZBTB32,downstream_gene_variant,,ENST00000392197,;ZBTB32,downstream_gene_variant,,ENST00000262630,NM_014383.1;KMT2B,downstream_gene_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000481182,;	T	ENST00000420124	Transcript	missense_variant	2201/8469	2201/8148	734/2715	Q/L	cAg/cTg		1		1	KMT2B	HGNC	HGNC:15840	protein_coding	YES	CCDS46055.1	ENSP00000398837	Q9UMN6		UPI00001376B5	NM_014727.2	tolerated_low_confidence(0.21)		3/37		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	35721548	35721548	A	T	1	0	0	0	0	1	0	0	0	8296	188	7	4		4	KMT2B	19	35721548	Missense_Mutation	SNP	A	C3N-00175_TP	2032256	35721548	22896068	1249	11399											
KMT2B	0	.	GRCh38	chr19	35733396	35733396	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgtcaagagggtgtccActttctccggccggtccccg	4	9	12	16	5	2	1	1	0	1	1	6	1	5	1	6	3	0	0	6	3	1	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.6847A>T	p.Thr2283Ser	p.T2283S	ENST00000420124	28/37	170	150	20	211	211	0	strelka-varscan-mutect	KMT2B,missense_variant,p.Thr2283Ser,ENST00000420124,NM_014727.2;KMT2B,non_coding_transcript_exon_variant,,ENST00000592092,;KMT2B,upstream_gene_variant,,ENST00000585476,;KMT2B,upstream_gene_variant,,ENST00000586308,;	T	ENST00000420124	Transcript	missense_variant	6847/8469	6847/8148	2283/2715	T/S	Act/Tct		1		1	KMT2B	HGNC	HGNC:15840	protein_coding	YES	CCDS46055.1	ENSP00000398837	Q9UMN6		UPI00001376B5	NM_014727.2	tolerated(0.74)		28/37																			MODERATE	1	SNV	1			1										PASS		rs1434829009	.												T	3	4	39	35733396	35733396	A	T	1	0	0	0	0	1	0	0	0	8296	159	6	4		4	KMT2B	19	35733396	Missense_Mutation	SNP	A	C3N-00175_TP	11848	35733396	22884220	1250	11400											
NPHS1	0	.	GRCh38	chr19	35841713	35841713	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccctcacagcccctccatActgatgctgacaagttgaat	11	9	6	15	0	1	3	1	3	0	0	2	3	2	3	4	0	3	2	4	0	3	2			C3N-00175_TP	C3N-00175_NB	A	A																c.2815+2T>C		p.X939_splice	ENST00000378910		338	272	66	346	346	0	strelka-varscan-mutect	NPHS1,splice_donor_variant,,ENST00000378910,NM_004646.3;NPHS1,splice_donor_variant,,ENST00000353632,;NPHS1,downstream_gene_variant,,ENST00000585400,;	G	ENST00000378910	Transcript	splice_donor_variant	-/4276	2815/3726	939/1241			CS044966	1		-1	NPHS1	HGNC	HGNC:7908	protein_coding	YES	CCDS32996.1	ENSP00000368190	O60500		UPI000004EF61	NM_004646.3				20/28																		HIGH	1	SNV	1		1	1										PASS		.	.												G	5	3	39	35841713	35841713	A	G	1	0	0	0	0	0	0	1	0	10630	405	14	5		5	NPHS1	19	35841713	Splice_Site	SNP	A	C3N-00175_TP	108317	35841713	22775903	1251	11401											
CATSPERG	0	.	GRCh38	chr19	38337396	38337396	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgtcctgaacgagtttaaGagggtaggcgagagtggtgt	9	11	17	4	2	0	3	0	1	0	2	1	5	1	3	1	3	1	3	1	3	3	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.162G>C	p.Lys54Asn	p.K54N	ENST00000409235	2/29	338	251	87	527	527	0	strelka-varscan-mutect	CATSPERG,missense_variant,p.Lys54Asn,ENST00000409235,NM_021185.4;CATSPERG,missense_variant,p.Lys54Asn,ENST00000410018,;CATSPERG,missense_variant,p.Lys54Asn,ENST00000409410,;CATSPERG,missense_variant,p.Lys54Asn,ENST00000471517,;CATSPERG,missense_variant,p.Lys54Asn,ENST00000312265,;CATSPERG,missense_variant,p.Lys54Asn,ENST00000475343,;CATSPERG,non_coding_transcript_exon_variant,,ENST00000477793,;	C	ENST00000409235	Transcript	missense_variant	277/3746	162/3480	54/1159	K/N	aaG/aaC		1		1	CATSPERG	HGNC	HGNC:25243	protein_coding	YES	CCDS12514.2	ENSP00000386962	Q6ZRH7		UPI000022A813	NM_021185.4	tolerated(0.13)		2/29		Pfam_domain:PF15064,hmmpanther:PTHR14327																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	39	38337396	38337396	G	C	1	0	0	0	0	1	0	0	0	2393	933	33	4		4	CATSPERG	19	38337396	Missense_Mutation	SNP	G	C3N-00175_TP	2495683	38337396	20280220	1252	11402											
ACP7	0	.	GRCh38	chr19	39106975	39106975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcggctgacgccctttgCtgtcttcccgaggccctgga	4	9	14	14	3	1	1	0	1	1	0	2	4	2	3	3	4	2	2	3	4	0	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1142C>A	p.Ala381Asp	p.A381D	ENST00000331256	12/13	153	102	51	220	220	0	strelka-varscan-mutect	ACP7,missense_variant,p.Ala381Asp,ENST00000331256,NM_001004318.2;ACP7,intron_variant,,ENST00000594229,;ACP7,intron_variant,,ENST00000601531,;ACP7,3_prime_UTR_variant,,ENST00000601575,;	A	ENST00000331256	Transcript	missense_variant	1416/2966	1142/1317	381/438	A/D	gCt/gAt		1		1	ACP7	HGNC	HGNC:33781	protein_coding	YES	CCDS33018.1	ENSP00000327557	Q6ZNF0		UPI000041AA68	NM_001004318.2	tolerated(0.64)		12/13		Gene3D:3.60.21.10,Pfam_domain:PF14008,hmmpanther:PTHR22953,hmmpanther:PTHR22953:SF9,Superfamily_domains:SSF56300																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	39106975	39106975	C	A	1	0	0	0	0	1	0	0	0	208	797	28	2		2	ACP7	19	39106975	Missense_Mutation	SNP	C	C3N-00175_TP	769579	39106975	19510641	1253	11403											
SUPT5H	0	.	GRCh38	chr19	39469351	39469351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggcaagatcctcagcGtggatggcaacaagatcacc	12	6	12	11	1	2	2	2	0	0	2	3	3	3	3	2	3	3	3	2	3	3	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1327G>T	p.Val443Leu	p.V443L	ENST00000599117	17/31	174	125	49	285	285	0	strelka-varscan-mutect	SUPT5H,missense_variant,p.Val443Leu,ENST00000599117,NM_001319990.1;SUPT5H,missense_variant,p.Val439Leu,ENST00000359191,NM_001319991.1;SUPT5H,missense_variant,p.Val443Leu,ENST00000598725,NM_001319990.1,NM_003169.3;SUPT5H,missense_variant,p.Val443Leu,ENST00000432763,NM_001111020.2,NM_001130824.1;SUPT5H,missense_variant,p.Val439Leu,ENST00000402194,NM_001130825.1;SUPT5H,downstream_gene_variant,,ENST00000593727,;SUPT5H,non_coding_transcript_exon_variant,,ENST00000599335,;SUPT5H,upstream_gene_variant,,ENST00000598117,;SUPT5H,downstream_gene_variant,,ENST00000599907,;SUPT5H,downstream_gene_variant,,ENST00000598520,;SUPT5H,upstream_gene_variant,,ENST00000596208,;	T	ENST00000599117	Transcript	missense_variant	1694/3902	1327/3264	443/1087	V/L	Gtg/Ttg		1		1	SUPT5H	HGNC	HGNC:11469	protein_coding	YES	CCDS12536.1	ENSP00000470252	O00267		UPI000006D81A	NM_001319990.1	deleterious(0.01)		17/31		hmmpanther:PTHR11125,PIRSF_domain:PIRSF036945,SMART_domains:SM00739																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	39469351	39469351	G	T	1	0	0	0	0	1	0	0	0	15786	1145	40	1		1	SUPT5H	19	39469351	Missense_Mutation	SNP	G	C3N-00175_TP	362376	39469351	19148265	1254	11404											
ATP1A3	0	.	GRCh38	chr19	41985869	41985869	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcccaggcccaccttgcAgccgtgggctgagatgatcc	7	7	13	14	1	0	2	0	2	0	1	1	3	1	2	5	3	2	2	5	3	1	2	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.640T>A	p.Cys214Ser	p.C214S	ENST00000545399	6/23	143	97	46	198	198	0	strelka-varscan-mutect	ATP1A3,missense_variant,p.Cys214Ser,ENST00000545399,NM_001256214.1;ATP1A3,missense_variant,p.Cys201Ser,ENST00000302102,NM_152296.4;ATP1A3,missense_variant,p.Cys171Ser,ENST00000602133,;ATP1A3,missense_variant,p.Cys212Ser,ENST00000543770,NM_001256213.1;ATP1A3,missense_variant,p.Cys171Ser,ENST00000473086,;ATP1A3,downstream_gene_variant,,ENST00000636197,;ATP1A3,downstream_gene_variant,,ENST00000468774,;ATP1A3,downstream_gene_variant,,ENST00000636258,;ATP1A3,downstream_gene_variant,,ENST00000636282,;ATP1A3,downstream_gene_variant,,ENST00000637406,;ATP1A3,missense_variant,p.Cys201Ser,ENST00000441343,;ATP1A3,upstream_gene_variant,,ENST00000485672,;ATP1A3,downstream_gene_variant,,ENST00000465007,;	T	ENST00000545399	Transcript	missense_variant	824/3618	640/3081	214/1026	C/S	Tgc/Agc		1		-1	ATP1A3	HGNC	HGNC:801	protein_coding	YES	CCDS58664.1	ENSP00000444688	P13637		UPI0001914BDE	NM_001256214.1	deleterious(0.01)		6/23		Superfamily_domains:0049471,Gene3D:2.70.150.10,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF259,TIGRFAM_domain:TIGR01106,TIGRFAM_domain:TIGR01494																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	41985869	41985869	A	T	1	0	0	0	0	1	0	0	0	1282	202	7	4		4	ATP1A3	19	41985869	Missense_Mutation	SNP	A	C3N-00175_TP	2516518	41985869	16631747	1255	11405											
PSG1	0	.	GRCh38	chr19	42871835	42871835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccgtatttcacattcatagGgtcctgcagtatactttgtg	8	16	8	9	1	2	0	2	0	0	0	4	0	4	0	2	1	2	3	2	1	4	7	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.641C>A	p.Pro214His	p.P214H	ENST00000312439	3/6	220	148	72	252	252	0	strelka-varscan-mutect	PSG1,missense_variant,p.Pro214His,ENST00000244296,NM_006905.2;PSG1,missense_variant,p.Pro214His,ENST00000436291,NM_001184825.1;PSG1,missense_variant,p.Pro214His,ENST00000595356,NM_001184826.1;PSG1,missense_variant,p.Pro214His,ENST00000312439,NM_001297773.1;PSG1,missense_variant,p.Pro143His,ENST00000595930,;PSG1,missense_variant,p.Pro135His,ENST00000597058,;PSG1,intron_variant,,ENST00000403380,;PSG1,intron_variant,,ENST00000595124,;PSG1,downstream_gene_variant,,ENST00000601073,;PSG1,downstream_gene_variant,,ENST00000601456,;PSG1,upstream_gene_variant,,ENST00000602039,;	T	ENST00000312439	Transcript	missense_variant	727/1882	641/1287	214/428	P/H	cCc/cAc		1		-1	PSG1	HGNC	HGNC:9514	protein_coding	YES	CCDS74380.1	ENSP00000308970	P11464		UPI000006DB43	NM_001297773.1	deleterious(0.04)		3/6		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	42871835	42871835	G	T	1	0	0	0	0	1	0	0	0	12804	1232	43	2		2	PSG1	19	42871835	Missense_Mutation	SNP	G	C3N-00175_TP	885966	42871835	15745781	1256	11406											
PSG6	0	.	GRCh38	chr19	42910839	42910839	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaagttgctgctggagatGgagggcttgggagtctccgc	6	12	16	7	1	1	1	0	0	1	1	2	4	1	3	1	4	2	4	1	4	1	4	rs761435971		C3N-00175_TP	C3N-00175_NB	G	G																c.447C>A	p.=	p.S149S	ENST00000292125	3/6	81	54	27	97	96	1	strelka-varscan-mutect	PSG6,synonymous_variant,p.=,ENST00000187910,NM_001031850.3;PSG6,synonymous_variant,p.=,ENST00000402603,;PSG6,synonymous_variant,p.=,ENST00000292125,NM_002782.4;PSG6,synonymous_variant,p.=,ENST00000594375,;PSG7,intron_variant,,ENST00000617049,;PSG6,downstream_gene_variant,,ENST00000601833,;PSG6,non_coding_transcript_exon_variant,,ENST00000402456,;PSG6,non_coding_transcript_exon_variant,,ENST00000595062,;PSG6,non_coding_transcript_exon_variant,,ENST00000484292,;PSG6,upstream_gene_variant,,ENST00000599753,;	T	ENST00000292125	Transcript	synonymous_variant	492/1391	447/1308	149/435	S	tcC/tcA	rs761435971	1		-1	PSG6	HGNC	HGNC:9523	protein_coding	YES	CCDS12613.1	ENSP00000292125	Q00889		UPI00001327A1	NM_002782.4			3/6		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF669,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs761435971	.												T	2	4	39	42910839	42910839	G	T	1	0	0	0	0	0	0	0	1	12810	1335	47	2		2	PSG6	19	42910839	Silent	SNP	G	C3N-00175_TP	39004	42910839	15706777	1257	11407											
PSG6	0	.	GRCh38	chr19	42916454	42916454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaattattacttgggcaGtggtgggcaggttccagaag	9	12	13	7	0	1	1	1	0	0	1	2	1	2	1	1	4	1	3	1	4	4	5	rs374758763		C3N-00175_TP	C3N-00175_NB	G	G																c.98C>A	p.Thr33Asn	p.T33N	ENST00000292125	2/6	103	65	38	110	110	0	strelka-varscan-mutect	PSG6,missense_variant,p.Thr33Asn,ENST00000187910,NM_001031850.3;PSG6,missense_variant,p.Thr33Asn,ENST00000402603,;PSG6,missense_variant,p.Thr33Asn,ENST00000292125,NM_002782.4;PSG6,5_prime_UTR_variant,,ENST00000601833,;PSG7,intron_variant,,ENST00000617049,;PSG6,intron_variant,,ENST00000594375,;PSG6,non_coding_transcript_exon_variant,,ENST00000402456,;PSG6,intron_variant,,ENST00000484292,;PSG6,upstream_gene_variant,,ENST00000595062,;	T	ENST00000292125	Transcript	missense_variant	143/1391	98/1308	33/435	T/N	aCt/aAt	rs374758763	1		-1	PSG6	HGNC	HGNC:9523	protein_coding	YES	CCDS12613.1	ENSP00000292125	Q00889		UPI00001327A1	NM_002782.4	deleterious(0)		2/6		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs374758763	.												T	3	4	39	42916454	42916454	G	T	1	0	0	0	0	1	0	0	0	12810	1029	36	2		2	PSG6	19	42916454	Missense_Mutation	SNP	G	C3N-00175_TP	5615	42916454	15701162	1258	11408											
CD177	0	.	GRCh38	chr19	43360395	43360395	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtcaggagacgctgctgctCctagatgtaggtacgtggac	8	10	14	9	2	1	2	1	0	0	2	2	4	2	3	1	3	3	5	1	3	3	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.750C>G	p.=	p.L250L	ENST00000618265	6/9	69	40	29	121	121	0	strelka-varscan-mutect	CD177,synonymous_variant,p.=,ENST00000618265,NM_020406.3;CTC-490G23.4,downstream_gene_variant,,ENST00000607109,;CD177,3_prime_UTR_variant,,ENST00000378012,;	G	ENST00000618265	Transcript	synonymous_variant	806/2222	750/1314	250/437	L	ctC/ctG		1		1	CD177	HGNC	HGNC:30072	protein_coding	YES	CCDS62700.1	ENSP00000479536		A0A087WVM2	UPI0000DB6A71	NM_020406.3			6/9		Low_complexity_(Seg):seg,hmmpanther:PTHR16529,hmmpanther:PTHR16529:SF8																	LOW	1	SNV	1			1										PASS		rs1243676731	.												G	2	3	39	43360395	43360395	C	G	1	0	0	0	0	0	0	0	1	2674	842	30	4		4	CD177	19	43360395	Silent	SNP	C	C3N-00175_TP	443941	43360395	15257221	1259	11409											
PLAUR	0	.	GRCh38	chr19	43670110	43670110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcggcagcagcggcGggtgacccatgtcgcgaggg	7	3	19	12	5	0	1	0	1	0	0	1	2	0	1	1	4	4	4	1	4	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.11C>A	p.Pro4Gln	p.P4Q	ENST00000340093	1/7	136	89	47	197	195	2	strelka-varscan-mutect	PLAUR,missense_variant,p.Pro4Gln,ENST00000221264,NM_001005377.2;PLAUR,missense_variant,p.Pro4Gln,ENST00000340093,NM_002659.3;PLAUR,missense_variant,p.Pro4Gln,ENST00000339082,NM_001005376.2;PLAUR,missense_variant,p.Pro4Gln,ENST00000601723,NM_001301037.1;PLAUR,upstream_gene_variant,,ENST00000593939,;PLAUR,upstream_gene_variant,,ENST00000599892,;PLAUR,upstream_gene_variant,,ENST00000599546,;PLAUR,upstream_gene_variant,,ENST00000602141,;PLAUR,upstream_gene_variant,,ENST00000593714,;PLAUR,missense_variant,p.Pro4Gln,ENST00000597107,;PLAUR,non_coding_transcript_exon_variant,,ENST00000601876,;PLAUR,non_coding_transcript_exon_variant,,ENST00000598875,;	T	ENST00000340093	Transcript	missense_variant	241/1548	11/1008	4/335	P/Q	cCg/cAg		1		-1	PLAUR	HGNC	HGNC:9053	protein_coding	YES	CCDS12628.1	ENSP00000339328	Q03405		UPI000000D8C1	NM_002659.3	deleterious_low_confidence(0.03)		1/7		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	43670110	43670110	G	T	1	0	0	0	0	1	0	0	0	12117	1116	39	1		1	PLAUR	19	43670110	Missense_Mutation	SNP	G	C3N-00175_TP	309715	43670110	14947506	1260	11410											
LYPD5	0	.	GRCh38	chr19	43798929	43798929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgcgttcgattgcgtctGgcccgcaggaggcccggtcc	3	8	15	15	6	1	0	0	0	1	0	4	2	3	1	4	4	1	2	4	4	0	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.253C>A	p.Gln85Lys	p.Q85K	ENST00000377950	3/5	139	73	66	148	148	0	strelka-varscan-mutect	LYPD5,missense_variant,p.Gln85Lys,ENST00000377950,NM_001031749.2;LYPD5,missense_variant,p.Gln42Lys,ENST00000414615,NM_182573.2;LYPD5,missense_variant,p.Gln42Lys,ENST00000594013,NM_001288763.1;LYPD5,missense_variant,p.Gln42Lys,ENST00000602179,;LYPD5,missense_variant,p.Gln42Lys,ENST00000594049,;AC115522.3,upstream_gene_variant,,ENST00000595680,;LYPD5,non_coding_transcript_exon_variant,,ENST00000601224,;LYPD5,upstream_gene_variant,,ENST00000595666,;	T	ENST00000377950	Transcript	missense_variant	334/2499	253/756	85/251	Q/K	Cag/Aag		1		-1	LYPD5	HGNC	HGNC:26397	protein_coding	YES	CCDS46096.1	ENSP00000367185	Q6UWN5		UPI00006A77F6	NM_001031749.2	tolerated(0.59)		3/5		hmmpanther:PTHR10624,Superfamily_domains:SSF57302																	MODERATE	1	SNV	1			1										PASS		rs1459165809	.												T	3	4	39	43798929	43798929	G	T	1	0	0	0	0	1	0	0	0	9024	1357	47	2		2	LYPD5	19	43798929	Missense_Mutation	SNP	G	C3N-00175_TP	128819	43798929	14818687	1261	11411											
ZNF229	0	.	GRCh38	chr19	44429713	44429713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgatttatacctgaacccCtttccacagacatcacatct	12	11	3	15	1	2	2	1	1	1	1	3	3	3	2	5	0	2	0	5	0	3	4			C3N-00175_TP	C3N-00175_NB	C	C																c.1068G>T	p.Lys356Asn	p.K356N	ENST00000614049	6/6	145	100	45	180	179	1	strelka-varscan-mutect	ZNF229,missense_variant,p.Lys350Asn,ENST00000613197,NM_001278510.2;ZNF229,missense_variant,p.Lys356Asn,ENST00000614049,NM_014518.3;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000620012,;	A	ENST00000614049	Transcript	missense_variant	1502/4507	1068/2478	356/825	K/N	aaG/aaT	COSM3535585	1		-1	ZNF229	HGNC	HGNC:13022	protein_coding	YES	CCDS42574.1	ENSP00000479884	Q9UJW7		UPI0001747B51	NM_014518.3	deleterious(0.05)		6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF348,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		rs1443576409	.												A	3	1	39	44429713	44429713	C	A	1	0	0	0	0	1	0	0	0	18359	680	24	2		2	ZNF229	19	44429713	Missense_Mutation	SNP	C	C3N-00175_TP	630784	44429713	14187903	1262	11412											
PRKD2	0	.	GRCh38	chr19	46691745	46691745	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctcacctccatagacCactccaaactgccctgagcc	9	8	6	18	0	1	2	1	1	0	1	4	2	4	2	7	0	3	0	7	0	2	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1692G>T	p.=	p.V564V	ENST00000433867	13/19	179	135	44	249	249	0	strelka-varscan-mutect	PRKD2,synonymous_variant,p.=,ENST00000433867,NM_016457.4,NM_001079880.1,NM_001079881.1;PRKD2,synonymous_variant,p.=,ENST00000291281,;PRKD2,synonymous_variant,p.=,ENST00000595515,;PRKD2,synonymous_variant,p.=,ENST00000600194,NM_001079882.1;PRKD2,synonymous_variant,p.=,ENST00000601806,;RN7SL364P,upstream_gene_variant,,ENST00000473668,;PRKD2,synonymous_variant,p.=,ENST00000597390,;PRKD2,non_coding_transcript_exon_variant,,ENST00000599019,;PRKD2,non_coding_transcript_exon_variant,,ENST00000597589,;PRKD2,non_coding_transcript_exon_variant,,ENST00000599464,;PRKD2,upstream_gene_variant,,ENST00000602155,;	A	ENST00000433867	Transcript	synonymous_variant	2170/3321	1692/2637	564/878	V	gtG/gtT		1		-1	PRKD2	HGNC	HGNC:17293	protein_coding	YES	CCDS12689.1	ENSP00000393978	Q9BZL6		UPI0000049BFA	NM_016457.4,NM_001079880.1,NM_001079881.1			13/19		PROSITE_profiles:PS50011,hmmpanther:PTHR22968,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000552,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	39	46691745	46691745	C	A	1	0	0	0	0	0	0	0	1	12652	581	21	2		2	PRKD2	19	46691745	Silent	SNP	C	C3N-00175_TP	2262032	46691745	11925871	1263	11413											
FKRP	0	.	GRCh38	chr19	46756544	46756544	+	Missense_Mutation	SNP	T	T	C																															atgggactacgacgtggaccTgggcatctacttggaggacg																								novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1094T>C	p.Leu365Pro	p.L365P	ENST00000318584	4/4	129	95	34	230	230	0	strelka-varscan-mutect	FKRP,missense_variant,p.Leu365Pro,ENST00000318584,NM_001039885.2,NM_024301.4;FKRP,missense_variant,p.Leu365Pro,ENST00000391909,;FKRP,downstream_gene_variant,,ENST00000593877,;FKRP,downstream_gene_variant,,ENST00000601299,;FKRP,downstream_gene_variant,,ENST00000600629,;FKRP,downstream_gene_variant,,ENST00000593875,;FKRP,downstream_gene_variant,,ENST00000598271,;FKRP,downstream_gene_variant,,ENST00000593800,;FKRP,downstream_gene_variant,,ENST00000597313,;FKRP,downstream_gene_variant,,ENST00000595570,;FKRP,downstream_gene_variant,,ENST00000593902,;FKRP,downstream_gene_variant,,ENST00000596460,;FKRP,downstream_gene_variant,,ENST00000602250,;FKRP,downstream_gene_variant,,ENST00000600227,;FKRP,downstream_gene_variant,,ENST00000595868,;FKRP,downstream_gene_variant,,ENST00000600834,;FKRP,downstream_gene_variant,,ENST00000600005,;FKRP,downstream_gene_variant,,ENST00000594467,;FKRP,downstream_gene_variant,,ENST00000602181,;FKRP,intron_variant,,ENST00000600646,;FKRP,intron_variant,,ENST00000597339,;FKRP,downstream_gene_variant,,ENST00000600977,;FKRP,downstream_gene_variant,,ENST00000596974,;FKRP,downstream_gene_variant,,ENST00000600872,;	C	ENST00000318584	Transcript	missense_variant	1391/3332	1094/1488	365/495	L/P	cTg/cCg		1		1	FKRP	HGNC	HGNC:17997	protein_coding	YES	CCDS12691.1	ENSP00000326570	Q9H9S5	A0A024R0R7	UPI00000732D0	NM_001039885.2,NM_024301.4	deleterious(0)		4/4		hmmpanther:PTHR13627,hmmpanther:PTHR13627:SF28,Pfam_domain:PF04991																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	46756544	46756544	T	C	1	0	0	0	0	1	0	0	0	5780	1580	55	5		5	FKRP	19	46756544	Missense_Mutation	SNP	T	C3N-00175_TP	64799	46756544	11861072	1264	11414	260	2									
FKRP	0	.	GRCh38	chr19	46756545	46756545	+	Silent	SNP	G	G	T																															tgggactacgacgtggacctGggcatctacttggaggacgt																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1095G>T	p.=	p.L365L	ENST00000318584	4/4	126	93	33	235	235	0	strelka-varscan-mutect	FKRP,synonymous_variant,p.=,ENST00000318584,NM_001039885.2,NM_024301.4;FKRP,synonymous_variant,p.=,ENST00000391909,;FKRP,downstream_gene_variant,,ENST00000593877,;FKRP,downstream_gene_variant,,ENST00000601299,;FKRP,downstream_gene_variant,,ENST00000600629,;FKRP,downstream_gene_variant,,ENST00000593875,;FKRP,downstream_gene_variant,,ENST00000598271,;FKRP,downstream_gene_variant,,ENST00000593800,;FKRP,downstream_gene_variant,,ENST00000597313,;FKRP,downstream_gene_variant,,ENST00000595570,;FKRP,downstream_gene_variant,,ENST00000593902,;FKRP,downstream_gene_variant,,ENST00000596460,;FKRP,downstream_gene_variant,,ENST00000602250,;FKRP,downstream_gene_variant,,ENST00000600227,;FKRP,downstream_gene_variant,,ENST00000595868,;FKRP,downstream_gene_variant,,ENST00000600834,;FKRP,downstream_gene_variant,,ENST00000600005,;FKRP,downstream_gene_variant,,ENST00000594467,;FKRP,downstream_gene_variant,,ENST00000602181,;FKRP,intron_variant,,ENST00000600646,;FKRP,intron_variant,,ENST00000597339,;FKRP,downstream_gene_variant,,ENST00000600977,;FKRP,downstream_gene_variant,,ENST00000596974,;FKRP,downstream_gene_variant,,ENST00000600872,;	T	ENST00000318584	Transcript	synonymous_variant	1392/3332	1095/1488	365/495	L	ctG/ctT		1		1	FKRP	HGNC	HGNC:17997	protein_coding	YES	CCDS12691.1	ENSP00000326570	Q9H9S5	A0A024R0R7	UPI00000732D0	NM_001039885.2,NM_024301.4			4/4		hmmpanther:PTHR13627,hmmpanther:PTHR13627:SF28,Pfam_domain:PF04991																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	46756545	46756545	G	T	1	0	0	0	0	0	0	0	1	5780	1335	47	2		2	FKRP	19	46756545	Silent	SNP	G	C3N-00175_TP	1	46756545	11861071	1265	11415	260	2									
ARHGAP35	0	.	GRCh38	chr19	46920743	46920743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtccacgctgggccggcggGataatcatttagtccatctc	8	10	11	12	3	2	0	1	0	1	0	5	1	4	1	3	3	0	1	3	3	2	3			C3N-00175_TP	C3N-00175_NB	G	G																c.2068G>T	p.Asp690Tyr	p.D690Y	ENST00000404338	1/6	125	102	23	147	147	0	strelka-varscan-mutect	ARHGAP35,missense_variant,p.Asp690Tyr,ENST00000404338,NM_004491.4;ARHGAP35,missense_variant,p.Asp690Tyr,ENST00000614079,;ARHGAP35,missense_variant,p.Asp690Tyr,ENST00000615647,;	T	ENST00000404338	Transcript	missense_variant	2068/8889	2068/4500	690/1499	D/Y	Gat/Tat	COSM1177603,COSM1177604	1		1	ARHGAP35	HGNC	HGNC:4591	protein_coding	YES	CCDS46127.1	ENSP00000385720	Q9NRY4		UPI0000163F71	NM_004491.4	deleterious(0)		1/6		hmmpanther:PTHR23176:SF26,hmmpanther:PTHR23176											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1271615780	.												T	3	4	39	46920743	46920743	G	T	1	0	0	0	0	1	0	0	0	1008	1174	41	2		2	ARHGAP35	19	46920743	Missense_Mutation	SNP	G	C3N-00175_TP	164198	46920743	11696873	1266	11416											
SCAF1	0	.	GRCh38	chr19	49654850	49654850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggcagcagcagctctgagGgccgtggggacacagataag	11	4	17	9	1	1	2	0	1	1	1	1	3	1	3	1	4	3	4	1	4	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.3598G>T	p.Gly1200Cys	p.G1200C	ENST00000360565	9/11	34	22	12	81	80	1	strelka-varscan-mutect	SCAF1,missense_variant,p.Gly1200Cys,ENST00000360565,NM_021228.2;IRF3,downstream_gene_variant,,ENST00000597198,;IRF3,downstream_gene_variant,,ENST00000309877,;IRF3,downstream_gene_variant,,ENST00000600911,;IRF3,downstream_gene_variant,,ENST00000377139,NM_001571.5;IRF3,downstream_gene_variant,,ENST00000601291,NM_001197122.1;IRF3,downstream_gene_variant,,ENST00000593922,NM_001197123.1;IRF3,downstream_gene_variant,,ENST00000598808,;IRF3,downstream_gene_variant,,ENST00000377135,NM_001197125.1;IRF3,downstream_gene_variant,,ENST00000599144,NM_001197126.1;IRF3,downstream_gene_variant,,ENST00000599223,NM_001197124.1;IRF3,downstream_gene_variant,,ENST00000596756,;IRF3,downstream_gene_variant,,ENST00000600022,NM_001197127.1;IRF3,downstream_gene_variant,,ENST00000596822,;IRF3,downstream_gene_variant,,ENST00000596765,NM_001197128.1;SCAF1,downstream_gene_variant,,ENST00000598359,;IRF3,downstream_gene_variant,,ENST00000599680,;IRF3,downstream_gene_variant,,ENST00000597636,;IRF3,downstream_gene_variant,,ENST00000596644,;	T	ENST00000360565	Transcript	missense_variant	3722/4306	3598/3939	1200/1312	G/C	Ggc/Tgc		1		1	SCAF1	HGNC	HGNC:30403	protein_coding	YES	CCDS33074.1	ENSP00000353769	Q9H7N4		UPI0000071891	NM_021228.2	deleterious_low_confidence(0)		9/11		Low_complexity_(Seg):seg																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	39	49654850	49654850	G	T	1	0	0	0	0	1	0	0	0	14132	1232	43	2		2	SCAF1	19	49654850	Missense_Mutation	SNP	G	C3N-00175_TP	2734107	49654850	8962766	1267	11417											
SIGLEC11	0	.	GRCh38	chr19	49960685	49960685	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcagctccctttgccGggatccccagtgagctggaa	9	7	13	12	1	0	1	0	1	0	0	2	4	2	4	4	3	4	3	4	3	2	1	rs147865552		C3N-00175_TP	C3N-00175_NB	G	G																c.327C>A	p.=	p.P109P	ENST00000447370	2/11	124	90	34	198	197	1	strelka-varscan-mutect	SIGLEC11,synonymous_variant,p.=,ENST00000447370,NM_052884.2;SIGLEC11,synonymous_variant,p.=,ENST00000426971,NM_001135163.1;SIGLEC11,upstream_gene_variant,,ENST00000426296,;CTC-326K19.6,upstream_gene_variant,,ENST00000451973,;	T	ENST00000447370	Transcript	synonymous_variant	418/3173	327/2097	109/698	P	ccC/ccA	rs147865552	1		-1	SIGLEC11	HGNC	HGNC:15622	protein_coding	YES	CCDS12790.2	ENSP00000412361	Q96RL6		UPI00018131F5	NM_052884.2			2/11		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF44,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs147865552	.												T	2	4	39	49960685	49960685	G	T	1	0	0	0	0	0	0	0	1	14571	1103	39	1		1	SIGLEC11	19	49960685	Silent	SNP	G	C3N-00175_TP	305835	49960685	8656931	1268	11418											
VRK3	0	.	GRCh38	chr19	50007799	50007799	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtcttctgagggctgcttTtgggggttgggggtctgctc	1	15	18	7	0	3	1	0	1	3	0	4	1	3	1	0	6	2	4	0	6	0	4	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.317A>C	p.Lys106Thr	p.K106T	ENST00000599538	5/15	277	189	88	355	355	0	strelka-varscan-mutect	VRK3,missense_variant,p.Lys106Thr,ENST00000599538,;VRK3,missense_variant,p.Lys106Thr,ENST00000593919,;VRK3,missense_variant,p.Lys106Thr,ENST00000316763,NM_016440.3;VRK3,missense_variant,p.Lys106Thr,ENST00000594948,;VRK3,missense_variant,p.Lys106Thr,ENST00000594092,NM_001308420.1;VRK3,missense_variant,p.Lys56Thr,ENST00000601341,;VRK3,missense_variant,p.Lys56Thr,ENST00000377011,NM_001025778.1;VRK3,missense_variant,p.Lys56Thr,ENST00000601912,;VRK3,missense_variant,p.Lys106Thr,ENST00000596445,;VRK3,missense_variant,p.Lys106Thr,ENST00000597215,;VRK3,missense_variant,p.Lys56Thr,ENST00000600137,;VRK3,missense_variant,p.Lys74Thr,ENST00000600259,;VRK3,missense_variant,p.Lys106Thr,ENST00000601324,;VRK3,non_coding_transcript_exon_variant,,ENST00000424804,;VRK3,downstream_gene_variant,,ENST00000599138,;VRK3,missense_variant,p.Lys56Thr,ENST00000596814,;VRK3,missense_variant,p.Lys106Thr,ENST00000596121,;VRK3,3_prime_UTR_variant,,ENST00000594090,;VRK3,3_prime_UTR_variant,,ENST00000599342,;	G	ENST00000599538	Transcript	missense_variant	982/2126	317/1425	106/474	K/T	aAa/aCa		1		-1	VRK3	HGNC	HGNC:18996	protein_coding	YES	CCDS12791.1	ENSP00000469880	Q8IV63	A0A024QZI4	UPI0000035BA6		tolerated(0.13)		5/15																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	50007799	50007799	T	G	1	0	0	0	0	1	0	0	0	17770	1841	64	5		5	VRK3	19	50007799	Missense_Mutation	SNP	T	C3N-00175_TP	47114	50007799	8609817	1269	11419											
SHANK1	0	.	GRCh38	chr19	50704438	50704438	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccctgcagccccagaccTggaagggggtctgtccgttg	6	8	13	14	1	1	1	0	0	1	1	3	2	3	2	6	3	2	2	6	3	1	1	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1154A>T	p.Gln385Leu	p.Q385L	ENST00000293441	8/23	108	74	34	159	159	0	strelka-varscan-mutect	SHANK1,missense_variant,p.Gln385Leu,ENST00000293441,NM_016148.2;SHANK1,missense_variant,p.Gln385Leu,ENST00000391814,;SHANK1,missense_variant,p.Gln385Leu,ENST00000359082,;SHANK1,splice_region_variant,,ENST00000461154,;	A	ENST00000293441	Transcript	missense_variant,splice_region_variant	1173/6643	1154/6486	385/2161	Q/L	cAg/cTg		1		-1	SHANK1	HGNC	HGNC:15474	protein_coding	YES	CCDS12799.1	ENSP00000293441	Q9Y566		UPI000013E109	NM_016148.2	deleterious(0)		8/23		PROSITE_profiles:PS50297,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	50704438	50704438	T	A	1	0	0	0	0	1	0	0	0	14523	1594	55	4		4	SHANK1	19	50704438	Missense_Mutation	SNP	T	C3N-00175_TP	696639	50704438	7913178	1270	11420											
SIGLEC12	0	.	GRCh38	chr19	51499585	51499585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggggtccagggaggacaCggaggcccccatccaggtga	9	4	17	11	1	0	1	0	1	0	0	2	4	2	4	4	7	0	0	4	7	0	0	rs201888334		C3N-00175_TP	C3N-00175_NB	C	C																c.940G>T	p.Val314Leu	p.V314L	ENST00000291707	3/8	71	48	23	122	122	0	strelka-varscan-mutect	SIGLEC12,missense_variant,p.Val314Leu,ENST00000291707,NM_053003.3;SIGLEC12,missense_variant,p.Val196Leu,ENST00000598614,NM_033329.2;SIGLEC12,3_prime_UTR_variant,,ENST00000596742,;	A	ENST00000291707	Transcript	missense_variant	996/2121	940/1788	314/595	V/L	Gtg/Ttg	rs201888334,COSM4080624	1		-1	SIGLEC12	HGNC	HGNC:15482	protein_coding	YES	CCDS12833.1	ENSP00000291707	Q96PQ1		UPI0000135992	NM_053003.3	tolerated(1)		3/8		PROSITE_profiles:PS50835,hmmpanther:PTHR12035:SF53,hmmpanther:PTHR12035,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201888334	.												A	3	1	39	51499585	51499585	C	A	1	0	0	0	0	1	0	0	0	14572	536	19	1		1	SIGLEC12	19	51499585	Missense_Mutation	SNP	C	C3N-00175_TP	795147	51499585	7118031	1271	11421											
ZNF160	0	.	GRCh38	chr19	53069356	53069356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcacttgtaaggtttctctCcagtgtgaattctccaatga	9	15	8	9	0	2	2	0	2	2	0	5	2	3	2	2	1	1	3	2	1	3	4	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1178G>A	p.Gly393Glu	p.G393E	ENST00000429604	7/7	79	56	23	119	119	0	strelka-varscan-mutect	ZNF160,missense_variant,p.Gly357Glu,ENST00000601421,;ZNF160,missense_variant,p.Gly393Glu,ENST00000429604,NM_001322132.1,NM_001322129.1,NM_001322138.1,NM_001322134.1,NM_001322131.1,NM_001322133.1,NM_198893.2,NM_001102603.1;ZNF160,missense_variant,p.Gly393Glu,ENST00000599056,NM_001322138.1;ZNF160,missense_variant,p.Gly393Glu,ENST00000418871,NM_001322135.1,NM_001322128.1,NM_001322138.1,NM_001322136.1,NM_033288.3;ZNF160,missense_variant,p.Gly393Glu,ENST00000599247,;ZNF160,downstream_gene_variant,,ENST00000355147,NM_001322126.1;ZNF160,downstream_gene_variant,,ENST00000601982,;	T	ENST00000429604	Transcript	missense_variant	1594/4336	1178/2457	393/818	G/E	gGa/gAa		1		-1	ZNF160	HGNC	HGNC:12948	protein_coding	YES	CCDS12859.1	ENSP00000406201	Q9HCG1	A0A024R4Q2	UPI0000202B37	NM_001322132.1,NM_001322129.1,NM_001322138.1,NM_001322134.1,NM_001322131.1,NM_001322133.1,NM_198893.2,NM_001102603.1	deleterious(0.02)		7/7		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF132,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		.	.												T	3	4	39	53069356	53069356	C	T	1	0	0	0	0	1	0	0	0	18320	855	30	3		3	ZNF160	19	53069356	Missense_Mutation	SNP	C	C3N-00175_TP	1569771	53069356	5548260	1272	11422											
BIRC8	0	.	GRCh38	chr19	53290234	53290234	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttccttgggcttccagttGgctagccctcctccacagtg	4	13	9	15	0	1	0	0	0	1	0	5	0	5	0	5	2	1	3	5	2	1	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.141C>A	p.=	p.A47A	ENST00000426466	1/1	174	125	49	211	211	0	strelka-varscan-mutect	BIRC8,synonymous_variant,p.=,ENST00000426466,NM_033341.4;	T	ENST00000426466	Transcript	synonymous_variant	1393/2026	141/711	47/236	A	gcC/gcA		1		-1	BIRC8	HGNC	HGNC:14878	protein_coding	YES	CCDS12863.1	ENSP00000412957	Q96P09		UPI000003966A	NM_033341.4			1/1		Gene3D:1.10.1170.10,Pfam_domain:PF00653,PROSITE_patterns:PS01282,PROSITE_profiles:PS50143,hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF102,SMART_domains:SM00238,Superfamily_domains:SSF57924																	LOW	1	SNV				1										PASS		.	.												T	2	4	39	53290234	53290234	G	T	1	0	0	0	0	0	0	0	1	1591	1335	47	2		2	BIRC8	19	53290234	Silent	SNP	G	C3N-00175_TP	220878	53290234	5327382	1273	11423											
PRKCG	0	.	GRCh38	chr19	53900689	53900689	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggcatgtgtaaggagaaCgtcttccccgggacgacaac	10	9	12	10	3	1	1	0	0	1	1	2	4	2	2	2	3	2	2	2	3	3	3	rs780647467		C3N-00175_TP	C3N-00175_NB	C	C																c.1515C>T	p.=	p.N505N	ENST00000263431	14/18	298	257	41	466	465	1	strelka-varscan-mutect	PRKCG,synonymous_variant,p.=,ENST00000263431,NM_002739.3;	T	ENST00000263431	Transcript	synonymous_variant	1797/3133	1515/2094	505/697	N	aaC/aaT	rs780647467,COSM1646960,COSM713832	1		1	PRKCG	HGNC	HGNC:9402	protein_coding	YES	CCDS12867.1	ENSP00000263431	P05129		UPI000000DC69	NM_002739.3			14/18		PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF162,hmmpanther:PTHR24356,PIRSF_domain:PIRSF000550,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs780647467	.												T	2	4	39	53900689	53900689	C	T	1	0	0	0	0	0	0	0	1	12645	535	19	1		1	PRKCG	19	53900689	Silent	SNP	C	C3N-00175_TP	610455	53900689	4716927	1274	11424											
LILRB4	0	.	GRCh38	chr19	54664373	54664373	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccaggctgaattcccCatgagtcctgtgacctcagt	9	9	9	14	0	1	3	1	3	0	0	3	3	3	3	5	1	1	2	5	1	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.543C>A	p.=	p.P181P	ENST00000391736	6/14	172	127	45	255	255	0	strelka-varscan-mutect	LILRB4,synonymous_variant,p.=,ENST00000391736,NM_001278426.3;LILRB4,synonymous_variant,p.=,ENST00000430952,NM_001278427.3;LILRB4,synonymous_variant,p.=,ENST00000391733,NM_001278429.3,NM_001278428.3;LILRB4,synonymous_variant,p.=,ENST00000391734,;LILRB4,synonymous_variant,p.=,ENST00000434286,;LILRB4,downstream_gene_variant,,ENST00000270452,;LILRB4,upstream_gene_variant,,ENST00000461262,;LILRB4,3_prime_UTR_variant,,ENST00000494796,;LILRB4,upstream_gene_variant,,ENST00000470943,;	A	ENST00000391736	Transcript	synonymous_variant	858/4002	543/1347	181/448	P	ccC/ccA		1		1	LILRB4	HGNC	HGNC:6608	protein_coding	YES	CCDS12902.1	ENSP00000375616	Q8NHJ6		UPI0000034C02	NM_001278426.3			6/14		PROSITE_profiles:PS50835,hmmpanther:PTHR11738:SF30,hmmpanther:PTHR11738,Pfam_domain:PF00047,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	39	54664373	54664373	C	A	1	0	0	0	0	0	0	0	1	8701	581	21	2		2	LILRB4	19	54664373	Silent	SNP	C	C3N-00175_TP	763684	54664373	3953243	1275	11425											
FCAR	0	.	GRCh38	chr19	54889793	54889793	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcggcagatgtggctgAaccgagctggagccaacaga	11	5	14	11	2	0	3	0	1	0	2	1	5	0	4	3	3	5	3	3	3	2	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.794A>T	p.Glu265Val	p.E265V	ENST00000355524	5/5	268	182	86	339	339	0	strelka-varscan-mutect	FCAR,missense_variant,p.Glu265Val,ENST00000355524,NM_002000.3;FCAR,missense_variant,p.Glu243Val,ENST00000391725,NM_133269.3;FCAR,missense_variant,p.Glu253Val,ENST00000359272,NM_133272.3;FCAR,missense_variant,p.Glu231Val,ENST00000391724,NM_133278.3;FCAR,missense_variant,p.Glu157Val,ENST00000391726,NM_133273.3;FCAR,missense_variant,p.Glu169Val,ENST00000345937,NM_133271.3;FCAR,missense_variant,p.Glu156Val,ENST00000353758,NM_133277.3;FCAR,3_prime_UTR_variant,,ENST00000391723,NM_133274.3;FCAR,downstream_gene_variant,,ENST00000469767,;CTB-61M7.2,upstream_gene_variant,,ENST00000594721,;FCAR,non_coding_transcript_exon_variant,,ENST00000482092,;FCAR,non_coding_transcript_exon_variant,,ENST00000471750,;FCAR,non_coding_transcript_exon_variant,,ENST00000472634,;FCAR,downstream_gene_variant,,ENST00000488066,;	T	ENST00000355524	Transcript	missense_variant	804/1483	794/864	265/287	E/V	gAa/gTa		1		1	FCAR	HGNC	HGNC:3608	protein_coding	YES	CCDS12907.1	ENSP00000347714	P24071		UPI000011B429	NM_002000.3	deleterious(0.01)		5/5		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	54889793	54889793	A	T	1	0	0	0	0	1	0	0	0	5636	246	9	4		4	FCAR	19	54889793	Missense_Mutation	SNP	A	C3N-00175_TP	225420	54889793	3727823	1276	11426											
SHISA7	0	.	GRCh38	chr19	55442446	55442446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccccagctagcggcggcgGcgtggtggcccagcgcggcg	3	3	19	16	7	0	0	0	0	0	0	0	0	0	0	3	6	3	1	3	6	1	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.418C>T	p.Pro140Ser	p.P140S	ENST00000376325	1/4	212	198	14	290	290	0	strelka-varscan-mutect	SHISA7,missense_variant,p.Pro140Ser,ENST00000376325,NM_001145176.1;SHISA7,upstream_gene_variant,,ENST00000416792,;	A	ENST00000376325	Transcript	missense_variant	418/6033	418/1617	140/538	P/S	Ccg/Tcg		1		-1	SHISA7	HGNC	HGNC:35409	protein_coding	YES	CCDS46193.1	ENSP00000365503	A6NL88		UPI000193055E	NM_001145176.1	tolerated(0.14)		1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF2,Pfam_domain:PF13908																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	55442446	55442446	G	A	1	0	0	0	0	1	0	0	0	14545	1203	42	3		3	SHISA7	19	55442446	Missense_Mutation	SNP	G	C3N-00175_TP	552653	55442446	3175170	1277	11427											
U2AF2	0	.	GRCh38	chr19	55662541	55662541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaacgcccagatgcgcctgGgggggctgacccaggcccct	6	5	14	16	2	1	2	1	1	0	1	1	2	1	2	5	4	2	1	5	4	1	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.526G>T	p.Gly176Trp	p.G176W	ENST00000308924	6/12	82	49	33	129	129	0	strelka-varscan-mutect	U2AF2,missense_variant,p.Gly176Trp,ENST00000450554,NM_001012478.1;U2AF2,missense_variant,p.Gly176Trp,ENST00000308924,NM_007279.2;U2AF2,missense_variant,p.Gly12Trp,ENST00000590551,;CTD-2537I9.12,intron_variant,,ENST00000589456,;CTD-2537I9.12,intron_variant,,ENST00000585940,;U2AF2,3_prime_UTR_variant,,ENST00000592874,;U2AF2,non_coding_transcript_exon_variant,,ENST00000587275,;U2AF2,downstream_gene_variant,,ENST00000587196,;U2AF2,downstream_gene_variant,,ENST00000588850,;U2AF2,downstream_gene_variant,,ENST00000592867,;	T	ENST00000308924	Transcript	missense_variant	566/1698	526/1428	176/475	G/W	Ggg/Tgg		1		1	U2AF2	HGNC	HGNC:23156	protein_coding	YES	CCDS12933.1	ENSP00000307863	P26368		UPI0000137924	NM_007279.2	tolerated(0.16)		6/12		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR23139,SMART_domains:SM00360,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01642																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	55662541	55662541	G	T	1	0	0	0	0	1	0	0	0	17340	1232	43	2		2	U2AF2	19	55662541	Missense_Mutation	SNP	G	C3N-00175_TP	220095	55662541	2955075	1278	11428											
NLRP9	0	.	GRCh38	chr19	55733310	55733310	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtgaacctgtccttccatAagtttccctctgcccagtcc	7	13	6	15	0	1	1	0	1	1	0	5	1	5	1	6	0	2	1	6	0	2	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.521T>A	p.Leu174Ter	p.L174*	ENST00000332836	2/9	153	104	49	191	191	0	strelka-varscan-mutect	NLRP9,stop_gained,p.Leu174Ter,ENST00000332836,NM_176820.3;NLRP9,stop_gained,p.Leu174Ter,ENST00000590200,;RN7SKP109,upstream_gene_variant,,ENST00000410592,;	T	ENST00000332836	Transcript	stop_gained	549/3484	521/2976	174/991	L/*	tTa/tAa		1		-1	NLRP9	HGNC	HGNC:22941	protein_coding	YES	CCDS12934.1	ENSP00000331857	Q7RTR0		UPI00001B6B39	NM_176820.3			2/9		PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Gene3D:3.40.50.300,Pfam_domain:PF05729,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	39	55733310	55733310	A	T	1	0	0	0	0	0	1	0	0	10522	372	13	4		4	NLRP9	19	55733310	Nonsense_Mutation	SNP	A	C3N-00175_TP	70769	55733310	2884306	1279	11429											
ZNF667	0	.	GRCh38	chr19	56441332	56441332	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacattcattacattcatAgggtttctctccagtatgac	10	14	5	12	0	3	1	2	1	1	0	5	1	4	1	2	1	1	2	2	1	3	6	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1663T>A	p.Tyr555Asn	p.Y555N	ENST00000504904	7/7	130	85	45	211	211	0	strelka-varscan-mutect	ZNF667,missense_variant,p.Tyr555Asn,ENST00000504904,NM_001321356.1;ZNF667,missense_variant,p.Tyr555Asn,ENST00000292069,NM_022103.3;ZNF667,missense_variant,p.Tyr337Asn,ENST00000629654,;ZNF667,3_prime_UTR_variant,,ENST00000591790,;ZNF667,downstream_gene_variant,,ENST00000587555,;ZNF667,3_prime_UTR_variant,,ENST00000592189,NM_001321355.1;	T	ENST00000504904	Transcript	missense_variant	2383/4390	1663/1833	555/610	Y/N	Tat/Aat		1		-1	ZNF667	HGNC	HGNC:28854	protein_coding	YES	CCDS12944.1	ENSP00000439402	Q5HYK9		UPI0000202CEE	NM_001321356.1	deleterious(0)		7/7		PROSITE_profiles:PS50157,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF46,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		rs767720252	.												T	3	4	39	56441332	56441332	A	T	1	0	0	0	0	1	0	0	0	18648	420	15	4		4	ZNF667	19	56441332	Missense_Mutation	SNP	A	C3N-00175_TP	708022	56441332	2176284	1280	11430											
DUXA	0	.	GRCh38	chr19	57155272	57155272	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaggctagttaccttgcAgtccctcaggaatcttgccc	9	10	8	14	0	2	0	1	0	1	0	3	1	3	1	3	2	4	3	3	2	4	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.539T>A	p.Leu180Gln	p.L180Q	ENST00000554048	5/6	196	154	42	241	241	0	strelka-varscan-mutect	DUXA,missense_variant,p.Leu180Gln,ENST00000554048,NM_001012729.1;CTC-360J11.5,downstream_gene_variant,,ENST00000604851,;CTC-360J11.6,upstream_gene_variant,,ENST00000604182,;	T	ENST00000554048	Transcript	missense_variant	539/1006	539/615	180/204	L/Q	cTg/cAg		1		-1	DUXA	HGNC	HGNC:32179	protein_coding	YES	CCDS33126.1	ENSP00000452398	A6NLW8		UPI0000198B7E	NM_001012729.1	tolerated(0.32)		5/6																			MODERATE	1	SNV	5			1										PASS		rs1184189843	.												T	3	4	39	57155272	57155272	A	T	1	0	0	0	0	1	0	0	0	4656	202	7	4		4	DUXA	19	57155272	Missense_Mutation	SNP	A	C3N-00175_TP	713940	57155272	1462344	1281	11431											
ZNF606	0	.	GRCh38	chr19	58000587	58000587	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaccacctgccctaaagcCccacctggtccccattctat	8	9	6	18	0	1	0	0	0	1	0	2	1	2	1	8	2	2	0	8	2	3	3	rs774934695		C3N-00175_TP	C3N-00175_NB	C	C																c.184G>T	p.Gly62Cys	p.G62C	ENST00000552184	3/3	123	73	50	134	133	1	strelka-varscan-mutect	ZNF606,missense_variant,p.Gly62Cys,ENST00000552184,;ZNF606,missense_variant,p.Gly62Cys,ENST00000546715,;ZNF606,intron_variant,,ENST00000341164,NM_025027.3;ZNF606,intron_variant,,ENST00000547828,;ZNF606,intron_variant,,ENST00000551380,;ZNF606,intron_variant,,ENST00000547121,;CTD-2368P22.1,upstream_gene_variant,,ENST00000550135,;CTD-2368P22.1,upstream_gene_variant,,ENST00000546949,;CTD-2368P22.1,upstream_gene_variant,,ENST00000313957,;CTD-2368P22.1,upstream_gene_variant,,ENST00000553254,;CTD-2368P22.1,upstream_gene_variant,,ENST00000547364,;ZNF606,intron_variant,,ENST00000552579,;ZNF606,intron_variant,,ENST00000550599,;CTD-2368P22.1,upstream_gene_variant,,ENST00000546956,;ZNF606,downstream_gene_variant,,ENST00000550560,;	A	ENST00000552184	Transcript	missense_variant	635/651	184/200	62/66	G/C	Ggc/Tgc	rs774934695	1		-1	ZNF606	HGNC	HGNC:25879	protein_coding			ENSP00000447075		F8W1H2	UPI0003F47CCC		deleterious_low_confidence(0)		3/3																			MODERATE		SNV	2			1										PASS		rs774934695	.												A	3	1	39	58000587	58000587	C	A	1	0	0	0	0	1	0	0	0	18607	623	22	2		2	ZNF606	19	58000587	Missense_Mutation	SNP	C	C3N-00175_TP	845315	58000587	617029	1282	11432											
DEFB125	0	.	GRCh38	chr20	96269	96269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttgacacaactaaatttgGagaaaccatgacacctgaga	17	9	7	8	0	0	4	0	3	0	2	0	6	0	4	2	1	2	0	2	1	4	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.323G>T	p.Gly108Val	p.G108V	ENST00000382410	2/2	140	117	23	190	189	1	strelka-varscan-mutect	DEFB125,missense_variant,p.Gly108Val,ENST00000382410,NM_153325.3;DEFB125,non_coding_transcript_exon_variant,,ENST00000608838,;	T	ENST00000382410	Transcript	missense_variant	323/587	323/471	108/156	G/V	gGa/gTa		1		1	DEFB125	HGNC	HGNC:18105	protein_coding	YES	CCDS12989.2	ENSP00000371847	Q8N687		UPI00001A36DE	NM_153325.3	tolerated(0.09)		2/2		hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF4																	MODERATE	1	SNV	1			1										PASS		rs1458481985	.												T	3	4	39	96269	96269	G	T	1	0	0	0	0	1	0	0	0	4214	1174	41	2		2	DEFB125	20	96269	Missense_Mutation	SNP	G	C3N-00175_TP		96269	64347898	1283	11433											
FAM110A	0	.	GRCh38	chr20	845633	845633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagcgcaatgcccgcGtgatcaagtggttgtatggg	7	10	17	7	3	1	1	1	1	0	0	1	2	1	2	1	4	2	3	1	4	3	2			C3N-00175_TP	C3N-00175_NB	G	G																c.829G>T	p.Val277Leu	p.V277L	ENST00000304189	3/3	227	181	46	340	340	0	strelka-varscan-mutect	FAM110A,missense_variant,p.Val277Leu,ENST00000304189,NM_001289145.1;FAM110A,missense_variant,p.Val277Leu,ENST00000381941,NM_001289146.1,NM_001042353.2;FAM110A,missense_variant,p.Val277Leu,ENST00000381939,;FAM110A,missense_variant,p.Val277Leu,ENST00000246100,NM_207121.4,NM_031424.5;FAM110A,missense_variant,p.Val277Leu,ENST00000541082,NM_001289147.1;FAM110A,missense_variant,p.Val171Leu,ENST00000505691,;	T	ENST00000304189	Transcript	missense_variant	1210/1856	829/888	277/295	V/L	Gtg/Ttg	COSM1029305	1		1	FAM110A	HGNC	HGNC:16188	protein_coding	YES	CCDS13008.1	ENSP00000354163	Q9BQ89		UPI00001285E4	NM_001289145.1	deleterious(0.01)		3/3		hmmpanther:PTHR14758:SF4,hmmpanther:PTHR14758,Pfam_domain:PF14160											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	39	845633	845633	G	T	1	0	0	0	0	1	0	0	0	5260	1145	40	1		1	FAM110A	20	845633	Missense_Mutation	SNP	G	C3N-00175_TP	749364	845633	63598534	1284	11434											
TGM3	0	.	GRCh38	chr20	2328130	2328130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctccaggggtgttccaGtgcggccccgcttcggtcat	3	10	14	14	3	1	0	1	0	0	0	4	0	3	0	5	5	1	2	5	5	0	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1098G>T	p.Gln366His	p.Q366H	ENST00000381458	9/13	118	97	21	186	186	0	strelka-varscan-mutect	TGM3,missense_variant,p.Gln366His,ENST00000381458,NM_003245.3;TGM3,downstream_gene_variant,,ENST00000463090,;	T	ENST00000381458	Transcript	missense_variant	1161/2642	1098/2082	366/693	Q/H	caG/caT		1		1	TGM3	HGNC	HGNC:11779	protein_coding	YES	CCDS33435.1	ENSP00000370867	Q08188		UPI0000136CCC	NM_003245.3	tolerated(0.07)		9/13		Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF36,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	2328130	2328130	G	T	1	0	0	0	0	1	0	0	0	16264	1020	36	2		2	TGM3	20	2328130	Missense_Mutation	SNP	G	C3N-00175_TP	1482497	2328130	62116037	1285	11435											
SNRPB	0	.	GRCh38	chr20	2463136	2463136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggggaggacccccacggCcaggtgggtactgggttgga	6	6	20	9	1	0	0	0	0	0	0	0	3	0	3	3	8	1	2	3	8	1	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.512G>T	p.Gly171Val	p.G171V	ENST00000438552	5/7	48	42	6	72	72	0	strelka-varscan-mutect	SNRPB,missense_variant,p.Gly171Val,ENST00000381342,NM_003091.3;SNRPB,missense_variant,p.Gly171Val,ENST00000438552,NM_198216.1;SNRPB,3_prime_UTR_variant,,ENST00000474384,;RP4-734P14.4,downstream_gene_variant,,ENST00000461548,;	A	ENST00000438552	Transcript	missense_variant	675/1008	512/723	171/240	G/V	gGc/gTc		1		-1	SNRPB	HGNC	HGNC:11153	protein_coding	YES	CCDS13026.1	ENSP00000412566	P14678		UPI00001351FF	NM_198216.1	tolerated(0.11)		5/7		Low_complexity_(Seg):seg,hmmpanther:PTHR10701:SF3,hmmpanther:PTHR10701,PIRSF_domain:PIRSF037187																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	2463136	2463136	C	A	1	0	0	0	0	1	0	0	0	15181	739	26	2		2	SNRPB	20	2463136	Missense_Mutation	SNP	C	C3N-00175_TP	135006	2463136	61981031	1286	11436											
TMC2	0	.	GRCh38	chr20	2641279	2641279	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaatcggaccagattcTggccacgccccatctcagac	9	7	9	16	2	2	2	1	0	2	2	4	4	2	4	5	3	0	0	5	3	1	1	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.2649T>A	p.=	p.S883S	ENST00000358864	20/20	185	164	21	260	260	0	strelka-varscan-mutect	TMC2,synonymous_variant,p.=,ENST00000358864,NM_080751.2;	A	ENST00000358864	Transcript	synonymous_variant	2664/3169	2649/2721	883/906	S	tcT/tcA		1		1	TMC2	HGNC	HGNC:16527	protein_coding	YES	CCDS13029.2	ENSP00000351732	Q8TDI7		UPI0000246C98	NM_080751.2			20/20		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF17																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	2641279	2641279	T	A	1	0	0	0	0	0	0	0	1	16431	1567	55	4		4	TMC2	20	2641279	Silent	SNP	T	C3N-00175_TP	178143	2641279	61802888	1287	11437											
PLCB1	0	.	GRCh38	chr20	8765319	8765319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgactacttgagaaggagagCcgctttggaaaagtccgcca	12	8	12	9	2	0	3	0	2	0	2	1	6	1	4	3	2	2	1	3	2	4	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2891C>A	p.Ala964Asp	p.A964D	ENST00000338037	26/32	113	101	12	185	185	0	strelka-varscan-mutect	PLCB1,missense_variant,p.Ala964Asp,ENST00000378641,NM_182734.2;PLCB1,missense_variant,p.Ala964Asp,ENST00000338037,NM_015192.3;PLCB1,missense_variant,p.Ala884Asp,ENST00000612075,;PLCB1,missense_variant,p.Ala884Asp,ENST00000617005,;PLCB1,missense_variant,p.Ala863Asp,ENST00000637919,;PLCB1,missense_variant,p.Ala964Asp,ENST00000378637,;PLCB1,missense_variant,p.Ala863Asp,ENST00000625874,;PLCB1,missense_variant,p.Ala863Asp,ENST00000626966,;PLCB1,missense_variant,p.Ala51Asp,ENST00000628239,;PLCB1,non_coding_transcript_exon_variant,,ENST00000635830,;PLCB1,non_coding_transcript_exon_variant,,ENST00000636825,;PLCB1,missense_variant,p.Ala705Asp,ENST00000487210,;PLCB1,missense_variant,p.Ala21Asp,ENST00000635929,;PLCB1,non_coding_transcript_exon_variant,,ENST00000494924,;	A	ENST00000338037	Transcript	missense_variant	3278/7092	2891/3651	964/1216	A/D	gCc/gAc		1		1	PLCB1	HGNC	HGNC:15917	protein_coding	YES	CCDS13102.1	ENSP00000338185	Q9NQ66		UPI0000131A8F	NM_015192.3	tolerated(0.25)		26/32		hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,PIRSF_domain:PIRSF000956																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	8765319	8765319	C	A	1	0	0	0	0	1	0	0	0	12121	739	26	2		2	PLCB1	20	8765319	Missense_Mutation	SNP	C	C3N-00175_TP	6124040	8765319	55678848	1288	11438											
PLCB1	0	.	GRCh38	chr20	8774666	8774666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagcagctgcttaatcttCggcaagaacagtattatagt	13	11	9	8	1	1	1	0	0	1	1	2	1	1	1	0	1	5	6	0	1	6	5			C3N-00175_TP	C3N-00175_NB	C	C																c.3058C>T	p.Arg1020Trp	p.R1020W	ENST00000338037	27/32	89	77	12	125	125	0	strelka-varscan-mutect	PLCB1,missense_variant,p.Arg1020Trp,ENST00000378641,NM_182734.2;PLCB1,missense_variant,p.Arg1020Trp,ENST00000338037,NM_015192.3;PLCB1,missense_variant,p.Arg940Trp,ENST00000612075,;PLCB1,missense_variant,p.Arg940Trp,ENST00000617005,;PLCB1,missense_variant,p.Arg919Trp,ENST00000637919,;PLCB1,missense_variant,p.Arg1020Trp,ENST00000378637,;PLCB1,missense_variant,p.Arg919Trp,ENST00000625874,;PLCB1,missense_variant,p.Arg919Trp,ENST00000626966,;PLCB1,missense_variant,p.Arg107Trp,ENST00000628239,;PLCB1,non_coding_transcript_exon_variant,,ENST00000635830,;PLCB1,non_coding_transcript_exon_variant,,ENST00000636825,;PLCB1,missense_variant,p.Arg761Trp,ENST00000487210,;PLCB1,missense_variant,p.Arg77Trp,ENST00000635929,;PLCB1,non_coding_transcript_exon_variant,,ENST00000494924,;	T	ENST00000338037	Transcript	missense_variant	3445/7092	3058/3651	1020/1216	R/W	Cgg/Tgg	COSM3549446,COSM3549447	1		1	PLCB1	HGNC	HGNC:15917	protein_coding	YES	CCDS13102.1	ENSP00000338185	Q9NQ66		UPI0000131A8F	NM_015192.3	tolerated(0.08)		27/32		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,Gene3D:1jadA00,PIRSF_domain:PIRSF000956,Pfam_domain:PF08703,Superfamily_domains:0053448											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1023330264	.												T	3	4	39	8774666	8774666	C	T	1	0	0	0	0	1	0	0	0	12121	875	31	1		1	PLCB1	20	8774666	Missense_Mutation	SNP	C	C3N-00175_TP	9347	8774666	55669501	1289	11439											
JAG1	0	.	GRCh38	chr20	10647006	10647006	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttgcctcccgactgactCttgcacttcccgtgaggacc	7	11	8	15	2	1	2	0	2	1	0	3	4	3	3	4	1	2	1	4	1	1	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1818G>C	p.Lys606Asn	p.K606N	ENST00000254958	14/26	376	340	36	613	613	0	strelka-varscan-mutect	JAG1,missense_variant,p.Lys606Asn,ENST00000254958,NM_000214.2;JAG1,missense_variant,p.Lys56Asn,ENST00000613518,;MIR6870,downstream_gene_variant,,ENST00000615931,;JAG1,non_coding_transcript_exon_variant,,ENST00000423891,;JAG1,non_coding_transcript_exon_variant,,ENST00000612857,;JAG1,upstream_gene_variant,,ENST00000488480,;JAG1,downstream_gene_variant,,ENST00000617965,;JAG1,downstream_gene_variant,,ENST00000620743,;JAG1,downstream_gene_variant,,ENST00000622545,;	G	ENST00000254958	Transcript	missense_variant	2395/6048	1818/3657	606/1218	K/N	aaG/aaC		1		-1	JAG1	HGNC	HGNC:6188	protein_coding	YES	CCDS13112.1	ENSP00000254958	P78504		UPI00000498B5	NM_000214.2	deleterious(0.03)		14/26		Gene3D:2gy5A03,PROSITE_profiles:PS50026,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF269,SMART_domains:SM00179,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	10647006	10647006	C	G	1	0	0	0	0	1	0	0	0	7847	912	32	4		4	JAG1	20	10647006	Missense_Mutation	SNP	C	C3N-00175_TP	1872340	10647006	53797161	1290	11440											
KIF16B	0	.	GRCh38	chr20	16507992	16507992	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaagatggcatgagacCtgctactgacgtcgttcatc	9	11	12	9	2	1	4	1	3	0	2	3	5	1	4	1	2	2	3	1	2	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.665G>T	p.Arg222Met	p.R222M	ENST00000408042	7/23	143	129	14	223	223	0	strelka-mutect	KIF16B,missense_variant,p.Arg222Met,ENST00000354981,NM_024704.4;KIF16B,missense_variant,p.Arg222Met,ENST00000636835,NM_001199865.1;KIF16B,missense_variant,p.Arg222Met,ENST00000408042,NM_001199866.1;	A	ENST00000408042	Transcript	missense_variant	823/4640	665/4179	222/1392	R/M	aGg/aTg		1		-1	KIF16B	HGNC	HGNC:15869	protein_coding	YES	CCDS56178.1	ENSP00000384164	Q96L93		UPI00003BF77C	NM_001199866.1	deleterious(0)		7/23		Gene3D:3.40.850.10,Pfam_domain:PF00225,Prints_domain:PR00380,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF400,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	16507992	16507992	C	A	1	0	0	0	0	1	0	0	0	8142	681	24	2		2	KIF16B	20	16507992	Missense_Mutation	SNP	C	C3N-00175_TP	5860986	16507992	47936175	1291	11441											
CFAP61	0	.	GRCh38	chr20	20277396	20277396	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggaatgacggcctgcacCcagaccccatctacagcgcc	10	5	10	16	2	1	2	0	1	1	1	1	3	1	3	5	2	3	1	5	2	2	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2734C>G	p.Pro912Ala	p.P912A	ENST00000245957	22/27	134	116	18	198	198	0	strelka-varscan-mutect	CFAP61,missense_variant,p.Pro912Ala,ENST00000245957,NM_015585.3;CFAP61,intron_variant,,ENST00000488640,;CFAP61,missense_variant,p.Pro268Ala,ENST00000377308,;	G	ENST00000245957	Transcript	missense_variant	2810/4082	2734/3714	912/1237	P/A	Cca/Gca		1		1	CFAP61	HGNC	HGNC:15872	protein_coding	YES	CCDS33447.1	ENSP00000245957	Q8NHU2		UPI0000206AE4	NM_015585.3	tolerated(0.05)		22/27		hmmpanther:PTHR21178,hmmpanther:PTHR21178:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	20277396	20277396	C	G	1	0	0	0	0	1	0	0	0	3028	623	22	4		4	CFAP61	20	20277396	Missense_Mutation	SNP	C	C3N-00175_TP	3769404	20277396	44166771	1292	11442											
CFAP61	0	.	GRCh38	chr20	20298270	20298270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggtggaaaccatcacgtgCctttctagggagcccttccc	8	10	10	13	1	2	0	1	0	1	0	3	2	3	2	4	3	3	0	4	3	2	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3306C>G	p.Cys1102Trp	p.C1102W	ENST00000245957	25/27	297	241	56	379	379	0	strelka-varscan-mutect	CFAP61,missense_variant,p.Cys1102Trp,ENST00000245957,NM_015585.3;CFAP61,non_coding_transcript_exon_variant,,ENST00000469994,;CFAP61,3_prime_UTR_variant,,ENST00000377308,;	G	ENST00000245957	Transcript	missense_variant	3382/4082	3306/3714	1102/1237	C/W	tgC/tgG		1		1	CFAP61	HGNC	HGNC:15872	protein_coding	YES	CCDS33447.1	ENSP00000245957	Q8NHU2		UPI0000206AE4	NM_015585.3	deleterious(0)		25/27		hmmpanther:PTHR21178,hmmpanther:PTHR21178:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	20298270	20298270	C	G	1	0	0	0	0	1	0	0	0	3028	747	26	4		4	CFAP61	20	20298270	Missense_Mutation	SNP	C	C3N-00175_TP	20874	20298270	44145897	1293	11443											
ENTPD6	0	.	GRCh38	chr20	25217538	25217538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccacccggctacctgacgGcactgcggatgtttaacagg	8	7	11	15	3	0	1	0	1	0	0	0	2	0	2	4	4	3	3	4	4	2	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.835G>T	p.Ala279Ser	p.A279S	ENST00000376652	9/15	206	162	44	256	256	0	strelka-varscan-mutect	ENTPD6,missense_variant,p.Ala278Ser,ENST00000360031,;ENTPD6,missense_variant,p.Ala279Ser,ENST00000376652,NM_001247.2;ENTPD6,missense_variant,p.Ala262Ser,ENST00000354989,NM_001114089.1;ENTPD6,missense_variant,p.Ala279Ser,ENST00000433259,;ENTPD6,missense_variant,p.Ala103Ser,ENST00000376666,;ENTPD6,missense_variant,p.Ala261Ser,ENST00000439162,;ENTPD6,missense_variant,p.Ala231Ser,ENST00000425813,;ENTPD6,missense_variant,p.Ala200Ser,ENST00000433417,;ENTPD6,missense_variant,p.Ala172Ser,ENST00000447877,;ENTPD6,missense_variant,p.Ala213Ser,ENST00000417467,;ENTPD6,missense_variant,p.Ala137Ser,ENST00000427553,;ENTPD6,downstream_gene_variant,,ENST00000435520,;ENTPD6,downstream_gene_variant,,ENST00000418890,;Y_RNA,downstream_gene_variant,,ENST00000365544,;ENTPD6,non_coding_transcript_exon_variant,,ENST00000471478,;ENTPD6,upstream_gene_variant,,ENST00000485936,;ENTPD6,upstream_gene_variant,,ENST00000481322,;	T	ENST00000376652	Transcript	missense_variant	998/2750	835/1455	279/484	A/S	Gca/Tca		1		1	ENTPD6	HGNC	HGNC:3368	protein_coding	YES	CCDS13170.1	ENSP00000365840	O75354		UPI0000052B67	NM_001247.2	tolerated(1)		9/15		hmmpanther:PTHR11782:SF36,hmmpanther:PTHR11782,Pfam_domain:PF01150																	MODERATE	1	SNV	1			1										PASS		rs896560972	.												T	3	4	39	25217538	25217538	G	T	1	0	0	0	0	1	0	0	0	4988	1203	42	2		2	ENTPD6	20	25217538	Missense_Mutation	SNP	G	C3N-00175_TP	4919268	25217538	39226629	1294	11444											
DEFB121	0	.	GRCh38	chr20	31405049	31405049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcactttctttacatgttGttctgcacctgcctgacttg	5	18	6	12	0	3	1	1	1	2	0	3	1	3	1	2	0	3	3	2	0	1	7	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.95C>A	p.Thr32Lys	p.T32K	ENST00000376314	2/2	78	55	23	112	112	0	strelka-varscan-mutect	DEFB121,missense_variant,p.Thr32Lys,ENST00000376314,NM_001011878.2;DEFB121,non_coding_transcript_exon_variant,,ENST00000376312,;	T	ENST00000376314	Transcript	missense_variant	209/389	95/231	32/76	T/K	aCa/aAa		1		-1	DEFB121	HGNC	HGNC:18101	protein_coding	YES	CCDS33456.1	ENSP00000417128	Q5J5C9		UPI00004A06B0	NM_001011878.2	tolerated(0.85)		2/2		hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF30,Pfam_domain:PF13841,PD866254																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	31405049	31405049	G	T	1	0	0	0	0	1	0	0	0	4211	1377	48	2		2	DEFB121	20	31405049	Missense_Mutation	SNP	G	C3N-00175_TP	6187511	31405049	33039118	1295	11445											
EFCAB8	0	.	GRCh38	chr20	32961223	32961223	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagcaggggcccagacCagcaagaccagcacatccgc	12	2	11	16	1	0	3	0	1	0	2	1	3	1	3	5	2	3	3	5	2	1	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.3481C>A	p.Gln1161Lys	p.Q1161K	ENST00000400522	27/27	115	98	17	156	156	0	strelka-varscan-mutect	EFCAB8,missense_variant,p.Gln1161Lys,ENST00000400522,;	A	ENST00000400522	Transcript	missense_variant	3575/3961	3481/3867	1161/1288	Q/K	Cag/Aag		1		1	EFCAB8	HGNC	HGNC:34532	protein_coding	YES		ENSP00000383366		A0A096LNH2	UPI00018E24E9		tolerated_low_confidence(0.07)		27/27																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	32961223	32961223	C	A	1	0	0	0	0	1	0	0	0	4775	595	21	2		2	EFCAB8	20	32961223	Missense_Mutation	SNP	C	C3N-00175_TP	1556174	32961223	31482944	1296	11446											
BPIFB6	0	.	GRCh38	chr20	33033038	33033039	+	Frame_Shift_Ins	INS	-	-	A																															gagaagatggcagccgaggcINSaggcaagaaacagccaggga																								novel		C3N-00175_TP	C3N-00175_NB	-	-																c.153dupA	p.Gly52ArgfsTer74	p.G52Rfs*74	ENST00000349552	2/15	135	115	20	187	187	0	sindel-varindel-pindel	BPIFB6,frameshift_variant,p.Gly52ArgfsTer74,ENST00000349552,NM_174897.2;BPIFB6,frameshift_variant,p.Gly53ArgfsTer16,ENST00000542375,;	A	ENST00000349552	Transcript	frameshift_variant	152-153/1362	152-153/1362	51/453	A/AX	gca/gcAa		1		1	BPIFB6	HGNC	HGNC:16504	protein_coding	YES	CCDS13211.1	ENSP00000344929	Q8NFQ5		UPI000003C8F3	NM_174897.2			2/15		hmmpanther:PTHR10504:SF71,hmmpanther:PTHR10504,Pfam_domain:PF01273																	HIGH	1	insertion	1	1		1										PASS		.	.												A	7	5	39	33033038	33033038	-	A	1	0	1	1	0	0	0	0	0	1661	710	25	0		0	BPIFB6	20	33033038	Frame_Shift_Ins	INS	-	C3N-00175_TP	71815	33033038	31411129	1297	11447											
BPIFB1	0	.	GRCh38	chr20	33288775	33288775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggaccacaacgccacCagcatcctgcagcagctgcc	11	4	9	17	1	0	1	0	1	0	0	1	2	1	2	5	1	6	4	5	1	2	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.150C>T	p.=	p.T50T	ENST00000253354	3/16	176	137	39	194	194	0	strelka-varscan-mutect	BPIFB1,synonymous_variant,p.=,ENST00000253354,NM_033197.2;BPIFB1,synonymous_variant,p.=,ENST00000423645,;	T	ENST00000253354	Transcript	synonymous_variant	311/1727	150/1455	50/484	T	acC/acT		1		1	BPIFB1	HGNC	HGNC:16108	protein_coding	YES	CCDS13218.1	ENSP00000253354	Q8TDL5		UPI000006EEF9	NM_033197.2			3/16		hmmpanther:PTHR10504:SF21,hmmpanther:PTHR10504,PIRSF_domain:PIRSF037186,Pfam_domain:PF01273,SMART_domains:SM00328																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	33288775	33288775	C	T	1	0	0	0	0	0	0	0	1	1657	581	21	3		3	BPIFB1	20	33288775	Silent	SNP	C	C3N-00175_TP	255737	33288775	31155392	1298	11448											
ZNF341	0	.	GRCh38	chr20	33761990	33761990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtggcaccgtgtctcGaaactctgtgaccgtacagg	8	9	13	11	3	2	1	0	1	2	0	3	2	2	1	2	3	2	2	2	3	2	1	rs2747553		C3N-00175_TP	C3N-00175_NB	G	G																c.1157G>T	p.Arg386Leu	p.R386L	ENST00000375200	8/15	85	65	20	111	111	0	strelka-varscan-mutect	ZNF341,missense_variant,p.Arg379Leu,ENST00000342427,NM_032819.4;ZNF341,missense_variant,p.Arg386Leu,ENST00000375200,NM_001282935.1,NM_001282933.1;ZNF341,missense_variant,p.Arg386Leu,ENST00000483118,;ZNF341,3_prime_UTR_variant,,ENST00000497876,;	T	ENST00000375200	Transcript	missense_variant	1419/3579	1157/2565	386/854	R/L	cGa/cTa	rs2747553	1		1	ZNF341	HGNC	HGNC:15992	protein_coding	YES	CCDS74719.1	ENSP00000364346	Q9BYN7		UPI0000470A07	NM_001282935.1,NM_001282933.1	tolerated(0.05)		8/15		hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF32																	MODERATE	1	SNV	1			1										PASS		rs2747553	.												T	3	4	39	33761990	33761990	G	T	1	0	0	0	0	1	0	0	0	18429	1058	37	1		1	ZNF341	20	33761990	Missense_Mutation	SNP	G	C3N-00175_TP	473215	33761990	30682177	1299	11449											
NCOA6	0	.	GRCh38	chr20	34741119	34741119	+	Missense_Mutation	SNP	C	C	A																															ggagagggcattaggcggtaCaggagcagaagaaaatttta																										C3N-00175_TP	C3N-00175_NB	C	C																c.5137G>T	p.Val1713Leu	p.V1713L	ENST00000374796	12/16	302	273	29	292	292	0	strelka-varscan-mutect	NCOA6,missense_variant,p.Val1713Leu,ENST00000374796,NM_001318240.1;NCOA6,missense_variant,p.Val1713Leu,ENST00000359003,NM_014071.3;NCOA6,intron_variant,,ENST00000612493,NM_001242539.1;NCOA6,intron_variant,,ENST00000616167,;NCOA6,intron_variant,,ENST00000628752,;	A	ENST00000374796	Transcript	missense_variant	7708/9311	5137/6192	1713/2063	V/L	Gta/Tta	COSM4979052	1		-1	NCOA6	HGNC	HGNC:15936	protein_coding	YES	CCDS13241.1	ENSP00000363929	Q14686		UPI000013C634	NM_001318240.1	tolerated_low_confidence(0.08)		12/16		Low_complexity_(Seg):seg,hmmpanther:PTHR15690,hmmpanther:PTHR15690:SF0											1						MODERATE	1	SNV	1		1	1										PASS		rs1174960530	.												A	3	1	39	34741119	34741119	C	A	1	0	0	0	0	1	0	0	0	10252	478	17	2		2	NCOA6	20	34741119	Missense_Mutation	SNP	C	C3N-00175_TP	979129	34741119	29703048	1300	11450	261	2									
NCOA6	0	.	GRCh38	chr20	34741121	34741121	+	Missense_Mutation	SNP	G	G	A																															agagggcattaggcggtacaGgagcagaagaaaattttatg																								novel		C3N-00175_TP	C3N-00175_NB	G	G																c.5135C>T	p.Pro1712Leu	p.P1712L	ENST00000374796	12/16	295	266	29	297	297	0	strelka-varscan-mutect	NCOA6,missense_variant,p.Pro1712Leu,ENST00000374796,NM_001318240.1;NCOA6,missense_variant,p.Pro1712Leu,ENST00000359003,NM_014071.3;NCOA6,intron_variant,,ENST00000612493,NM_001242539.1;NCOA6,intron_variant,,ENST00000616167,;NCOA6,intron_variant,,ENST00000628752,;	A	ENST00000374796	Transcript	missense_variant	7706/9311	5135/6192	1712/2063	P/L	cCt/cTt		1		-1	NCOA6	HGNC	HGNC:15936	protein_coding	YES	CCDS13241.1	ENSP00000363929	Q14686		UPI000013C634	NM_001318240.1	deleterious_low_confidence(0)		12/16		Low_complexity_(Seg):seg,hmmpanther:PTHR15690,hmmpanther:PTHR15690:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	34741121	34741121	G	A	1	0	0	0	0	1	0	0	0	10252	1000	35	3		3	NCOA6	20	34741121	Missense_Mutation	SNP	G	C3N-00175_TP	2	34741121	29703046	1301	11451	261	2									
MYL9	0	.	GRCh38	chr20	36548162	36548162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgaggatgtgattcgcaaCgcctttgcctgcttcgacga	7	10	11	13	5	0	1	0	1	0	0	2	5	0	2	3	1	3	2	3	1	1	3	rs7273824		C3N-00175_TP	C3N-00175_NB	C	C																c.315C>A	p.Asn105Lys	p.N105K	ENST00000279022	3/4	75	67	8	110	110	0	strelka-varscan-mutect	MYL9,missense_variant,p.Asn105Lys,ENST00000279022,NM_006097.4;MYL9,intron_variant,,ENST00000346786,NM_181526.2;DLGAP4-AS1,intron_variant,,ENST00000439595,;DLGAP4-AS1,intron_variant,,ENST00000425233,;	A	ENST00000279022	Transcript	missense_variant	419/2821	315/519	105/172	N/K	aaC/aaA	rs7273824,COSM3693464	1		1	MYL9	HGNC	HGNC:15754	protein_coding	YES	CCDS13276.1	ENSP00000279022	P24844		UPI00000012F1	NM_006097.4	deleterious(0.01)		3/4		PROSITE_profiles:PS50222,hmmpanther:PTHR23049,hmmpanther:PTHR23049:SF37,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs7273824	.												A	3	1	39	36548162	36548162	C	A	1	0	0	0	0	1	0	0	0	10054	535	19	1		1	MYL9	20	36548162	Missense_Mutation	SNP	C	C3N-00175_TP	1807041	36548162	27896005	1302	11452											
PTPRT	0	.	GRCh38	chr20	42315785	42315785	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcaggggagagagaggagGgttccagtagccattgtatg	10	10	16	5	0	1	2	1	0	0	2	2	5	2	3	2	4	1	3	2	4	2	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2077C>G	p.Pro693Ala	p.P693A	ENST00000373198	12/32	206	178	28	221	221	0	strelka-varscan-mutect	PTPRT,missense_variant,p.Pro693Ala,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Pro693Ala,ENST00000373193,;PTPRT,missense_variant,p.Pro693Ala,ENST00000373201,;PTPRT,missense_variant,p.Pro693Ala,ENST00000373190,;PTPRT,missense_variant,p.Pro693Ala,ENST00000373184,;PTPRT,missense_variant,p.Pro693Ala,ENST00000356100,;PTPRT,missense_variant,p.Pro693Ala,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Pro311Ala,ENST00000612229,;PTPRT,missense_variant,p.Pro309Ala,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	C	ENST00000373198	Transcript	missense_variant	2313/12746	2077/4383	693/1460	P/A	Cct/Gct		1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	tolerated(0.63)		12/32		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	39	42315785	42315785	G	C	1	0	0	0	0	1	0	0	0	12967	1232	43	4		4	PTPRT	20	42315785	Missense_Mutation	SNP	G	C3N-00175_TP	5767623	42315785	22128382	1303	11453											
L3MBTL1	0	.	GRCh38	chr20	43536123	43536123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccactcctggttgcgacgGctctggccatgtcacaggca	6	8	11	16	2	2	0	1	0	1	0	3	1	3	0	4	4	1	3	4	4	0	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1886G>T	p.Gly629Val	p.G629V	ENST00000418998	18/22	236	202	34	282	282	0	strelka-varscan-mutect	L3MBTL1,missense_variant,p.Gly347Val,ENST00000422861,;L3MBTL1,missense_variant,p.Gly629Val,ENST00000418998,NM_032107.4;L3MBTL1,missense_variant,p.Gly561Val,ENST00000373135,NM_015478.6;L3MBTL1,missense_variant,p.Gly629Val,ENST00000427442,;L3MBTL1,missense_variant,p.Gly566Val,ENST00000373134,;L3MBTL1,upstream_gene_variant,,ENST00000471977,;L3MBTL1,3_prime_UTR_variant,,ENST00000445228,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000373133,;L3MBTL1,upstream_gene_variant,,ENST00000494117,;L3MBTL1,downstream_gene_variant,,ENST00000497347,;RP1-138B7.6,upstream_gene_variant,,ENST00000621802,;L3MBTL1,downstream_gene_variant,,ENST00000485334,;L3MBTL1,downstream_gene_variant,,ENST00000483547,;	T	ENST00000418998	Transcript	missense_variant	1962/3365	1886/2523	629/840	G/V	gGc/gTc		1		1	L3MBTL1	HGNC	HGNC:15905	protein_coding	YES	CCDS46602.2	ENSP00000398516	Q9Y468		UPI0001E18E26	NM_032107.4	deleterious(0.01)		18/22		hmmpanther:PTHR12247:SF69,hmmpanther:PTHR12247,Pfam_domain:PF01530,Superfamily_domains:0042508,Superfamily_domains:SSF63748																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	43536123	43536123	G	T	1	0	0	0	0	1	0	0	0	8493	1203	42	2		2	L3MBTL1	20	43536123	Missense_Mutation	SNP	G	C3N-00175_TP	1220338	43536123	20908044	1304	11454											
KCNK15	0	.	GRCh38	chr20	44746047	44746047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgctggtccagaagcgggGcgctctccggaggaagttcg	7	7	16	11	4	1	1	0	0	1	1	4	3	2	3	2	5	2	3	2	5	2	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.137G>T	p.Gly46Val	p.G46V	ENST00000372861	1/2	58	35	23	71	71	0	strelka-varscan-mutect	KCNK15,missense_variant,p.Gly46Val,ENST00000372861,NM_022358.3;RP4-781B1.5,upstream_gene_variant,,ENST00000611368,;KCNK15-AS1,upstream_gene_variant,,ENST00000427303,;KCNK15-AS1,upstream_gene_variant,,ENST00000445420,;	T	ENST00000372861	Transcript	missense_variant	268/2599	137/993	46/330	G/V	gGc/gTc		1		1	KCNK15	HGNC	HGNC:13814	protein_coding	YES	CCDS13337.1	ENSP00000361952	Q9H427		UPI000003EA1C	NM_022358.3	tolerated(0.17)		1/2		hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF18,PIRSF_domain:PIRSF038061																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	44746047	44746047	G	T	1	0	0	0	0	1	0	0	0	7979	1203	42	2		2	KCNK15	20	44746047	Missense_Mutation	SNP	G	C3N-00175_TP	1209924	44746047	19698120	1305	11455											
KCNK15	0	.	GRCh38	chr20	44750608	44750608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgccagcgccgactggcccGagcgcgctgcccgcaccccc	4	4	12	21	6	0	0	0	0	0	0	0	2	0	0	6	1	4	2	6	1	0	1	rs367808576		C3N-00175_TP	C3N-00175_NB	G	G																c.763G>A	p.Glu255Lys	p.E255K	ENST00000372861	2/2	140	106	34	177	177	0	strelka-varscan-mutect	KCNK15,missense_variant,p.Glu255Lys,ENST00000372861,NM_022358.3;RIMS4,downstream_gene_variant,,ENST00000372851,NM_182970.3;RP4-781B1.5,downstream_gene_variant,,ENST00000611368,;KCNK15-AS1,upstream_gene_variant,,ENST00000427303,;KCNK15-AS1,upstream_gene_variant,,ENST00000445420,;	A	ENST00000372861	Transcript	missense_variant	894/2599	763/993	255/330	E/K	Gag/Aag	rs367808576	1		1	KCNK15	HGNC	HGNC:13814	protein_coding	YES	CCDS13337.1	ENSP00000361952	Q9H427		UPI000003EA1C	NM_022358.3	tolerated(0.56)		2/2		hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF18,PIRSF_domain:PIRSF038061,Prints_domain:PR01690																	MODERATE	1	SNV	1			1										PASS		rs367808576	.												A	3	1	39	44750608	44750608	G	A	1	0	0	0	0	1	0	0	0	7979	1059	37	1		1	KCNK15	20	44750608	Missense_Mutation	SNP	G	C3N-00175_TP	4561	44750608	19693559	1306	11456											
SEMG1	0	.	GRCh38	chr20	45208519	45208519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgcaaaaggagagtctGgccaatctacaaatagagaa	20	6	9	6	0	2	2	0	0	2	2	2	4	2	2	1	2	2	1	1	2	9	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1222G>T	p.Gly408Cys	p.G408C	ENST00000372781	2/3	121	96	25	167	167	0	strelka-varscan-mutect	SEMG1,missense_variant,p.Gly408Cys,ENST00000372781,NM_003007.3;	T	ENST00000372781	Transcript	missense_variant	1279/1662	1222/1389	408/462	G/C	Ggc/Tgc		1		1	SEMG1	HGNC	HGNC:10742	protein_coding	YES	CCDS13345.1	ENSP00000361867	P04279		UPI0000135844	NM_003007.3	tolerated(0.08)		2/3		hmmpanther:PTHR10547:SF4,hmmpanther:PTHR10547,Pfam_domain:PF05474																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	45208519	45208519	G	T	1	0	0	0	0	1	0	0	0	14320	1348	47	2		2	SEMG1	20	45208519	Missense_Mutation	SNP	G	C3N-00175_TP	457911	45208519	19235648	1307	11457											
RBPJL	0	.	GRCh38	chr20	45316707	45316707	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccgcggtccctggtgtgCgtggtgccggacgtggcggc	2	7	19	13	6	0	0	0	0	0	0	1	1	1	1	3	6	3	0	3	6	0	0			C3N-00175_TP	C3N-00175_NB	C	C																c.1302C>A	p.Cys434Ter	p.C434*	ENST00000343694	12/12	95	77	18	133	133	0	strelka-varscan-mutect	RBPJL,stop_gained,p.Cys434Ter,ENST00000343694,NM_014276.3;RBPJL,stop_gained,p.Cys433Ter,ENST00000372743,NM_001281449.1;RBPJL,missense_variant,p.Arg438Ser,ENST00000372741,NM_001281448.1;RBPJL,missense_variant,p.Arg151Ser,ENST00000464504,;RBPJL,non_coding_transcript_exon_variant,,ENST00000622729,;	A	ENST00000343694	Transcript	stop_gained	1374/2489	1302/1554	434/517	C/*	tgC/tgA	COSM1412048	1		1	RBPJL	HGNC	HGNC:13761	protein_coding	YES	CCDS13349.1	ENSP00000341243	Q9UBG7		UPI0000047297	NM_014276.3			12/12		Gene3D:2.60.40.10,hmmpanther:PTHR10665,hmmpanther:PTHR10665:SF2,Superfamily_domains:SSF81296											1						HIGH	1	SNV	2		1	1										PASS		rs1333952891	.												A	4	1	39	45316707	45316707	C	A	1	0	0	0	0	0	1	0	0	13330	777	27	1		1	RBPJL	20	45316707	Nonsense_Mutation	SNP	C	C3N-00175_TP	108188	45316707	19127460	1308	11458											
TP53TG5	0	.	GRCh38	chr20	45375370	45375370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttccgtggcattgccGccaatgacgttttctccttg	4	17	8	12	3	2	1	0	1	2	0	4	1	3	1	4	1	1	2	4	1	1	6	rs778649036		C3N-00175_TP	C3N-00175_NB	G	G																c.437C>A	p.Ala146Glu	p.A146E	ENST00000372726	4/5	475	411	64	523	522	1	strelka-varscan-mutect	TP53TG5,missense_variant,p.Ala146Glu,ENST00000372726,NM_014477.2;SYS1,3_prime_UTR_variant,,ENST00000426004,NM_001099791.2;SYS1-DBNDD2,intron_variant,,ENST00000475242,;TP53TG5,downstream_gene_variant,,ENST00000494455,;TP53TG5,downstream_gene_variant,,ENST00000488588,;SYS1-DBNDD2,intron_variant,,ENST00000419593,;SYS1-DBNDD2,intron_variant,,ENST00000452133,;SYS1-DBNDD2,intron_variant,,ENST00000458187,;	T	ENST00000372726	Transcript	missense_variant	594/2374	437/873	146/290	A/E	gCg/gAg	rs778649036,COSM1027225	1		-1	TP53TG5	HGNC	HGNC:15856	protein_coding	YES	CCDS13352.1	ENSP00000361811	Q9Y2B4		UPI000000165C	NM_014477.2	tolerated(0.73)		4/5		hmmpanther:PTHR15562,hmmpanther:PTHR15562:SF0,Pfam_domain:PF15331											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs778649036	.												T	3	4	39	45375370	45375370	G	T	1	0	0	0	0	1	0	0	0	16870	1087	38	1		1	TP53TG5	20	45375370	Missense_Mutation	SNP	G	C3N-00175_TP	58663	45375370	19068797	1309	11459											
ZSWIM3	0	.	GRCh38	chr20	45877565	45877565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcatgaaggaagccctgcGggaggccgtgtttgtcactt	7	10	14	10	2	2	1	2	1	0	0	2	3	2	3	2	3	2	2	2	3	2	2	rs763424614		C3N-00175_TP	C3N-00175_NB	G	G																c.1007G>T	p.Arg336Leu	p.R336L	ENST00000255152	2/2	175	127	48	239	239	0	strelka-varscan-mutect	ZSWIM3,missense_variant,p.Arg336Leu,ENST00000255152,NM_080752.3;ZSWIM1,upstream_gene_variant,,ENST00000372523,NM_080603.4;ZSWIM1,upstream_gene_variant,,ENST00000372520,;	T	ENST00000255152	Transcript	missense_variant	1216/2773	1007/2091	336/696	R/L	cGg/cTg	rs763424614,COSM352096	1		1	ZSWIM3	HGNC	HGNC:16157	protein_coding	YES	CCDS13381.1	ENSP00000255152	Q96MP5		UPI00000736E4	NM_080752.3	deleterious(0.01)		2/2		hmmpanther:PTHR31569:SF3,hmmpanther:PTHR31569											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs763424614	.												T	3	4	39	45877565	45877565	G	T	1	0	0	0	0	1	0	0	0	18843	1116	39	1		1	ZSWIM3	20	45877565	Missense_Mutation	SNP	G	C3N-00175_TP	502195	45877565	18566602	1310	11460											
ZNF335	0	.	GRCh38	chr20	45965755	45965755	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggggctcatcctcagcTggattatagtcgctatcctc	6	12	9	14	2	2	0	2	0	0	0	7	1	4	1	3	3	1	3	3	3	3	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.975A>T	p.=	p.P325P	ENST00000322927	7/28	93	76	17	94	94	0	strelka-varscan-mutect	ZNF335,synonymous_variant,p.=,ENST00000322927,NM_022095.3;ZNF335,non_coding_transcript_exon_variant,,ENST00000476822,;ZNF335,downstream_gene_variant,,ENST00000494955,;ZNF335,upstream_gene_variant,,ENST00000475002,;	A	ENST00000322927	Transcript	synonymous_variant	1076/4430	975/4029	325/1342	P	ccA/ccT		1		-1	ZNF335	HGNC	HGNC:15807	protein_coding	YES	CCDS13389.1	ENSP00000325326	Q9H4Z2		UPI0000001BC3	NM_022095.3			7/28		hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF36																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	45965755	45965755	T	A	1	0	0	0	0	0	0	0	1	18424	1567	55	4		4	ZNF335	20	45965755	Silent	SNP	T	C3N-00175_TP	88190	45965755	18478412	1311	11461											
PREX1	0	.	GRCh38	chr20	48692672	48692672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgggggaggggctacCtgtcccatcttccacattct	7	10	12	12	0	2	0	0	0	2	0	4	1	4	1	3	5	1	2	3	5	2	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1036G>T	p.Ala346Ser	p.A346S	ENST00000371941	8/40	137	120	17	148	148	0	strelka-varscan-mutect	PREX1,missense_variant,p.Ala346Ser,ENST00000371941,NM_020820.3;PREX1,missense_variant,p.Gly5Cys,ENST00000620554,;	A	ENST00000371941	Transcript	missense_variant,splice_region_variant	1059/6636	1036/4980	346/1659	A/S	Gcg/Tcg		1		-1	PREX1	HGNC	HGNC:32594	protein_coding	YES	CCDS13410.1	ENSP00000361009	Q8TCU6		UPI000013D375	NM_020820.3	tolerated(0.12)		8/40		PROSITE_profiles:PS50003,hmmpanther:PTHR22829:SF6,hmmpanther:PTHR22829,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	48692672	48692672	C	A	1	0	0	0	0	1	0	0	0	12610	695	24	2		2	PREX1	20	48692672	Missense_Mutation	SNP	C	C3N-00175_TP	2726917	48692672	15751495	1312	11462											
SLC9A8	0	.	GRCh38	chr20	49887895	49887895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtacgaggaggtacgccagGgcccctccggctccgaggac	7	4	16	14	4	0	0	0	0	0	0	2	4	2	2	5	6	2	3	5	6	2	2	rs371568441		C3N-00175_TP	C3N-00175_NB	G	G																c.1753G>T	p.Gly585Cys	p.G585C	ENST00000417961	16/16	152	103	49	176	176	0	strelka-varscan-mutect	SLC9A8,missense_variant,p.Gly585Cys,ENST00000417961,NM_001260491.1;SLC9A8,missense_variant,p.Gly569Cys,ENST00000361573,NM_015266.2;SLC9A8,non_coding_transcript_exon_variant,,ENST00000490250,;	T	ENST00000417961	Transcript	missense_variant	1963/6309	1753/1794	585/597	G/C	Ggc/Tgc	rs371568441	1		1	SLC9A8	HGNC	HGNC:20728	protein_coding	YES	CCDS58774.1	ENSP00000416418	Q9Y2E8		UPI00017A7E08	NM_001260491.1	tolerated(0.05)		16/16		hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF122																	MODERATE	1	SNV	2			1										PASS		rs371568441	.												T	3	4	39	49887895	49887895	G	T	1	0	0	0	0	1	0	0	0	15002	1232	43	2		2	SLC9A8	20	49887895	Missense_Mutation	SNP	G	C3N-00175_TP	1195223	49887895	14556272	1313	11463											
SPATA2	0	.	GRCh38	chr20	49906099	49906099	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagggagtgggcatcgttTctgagcagccacacatccgg	9	8	14	10	2	1	2	0	1	1	1	3	3	2	3	2	3	2	3	2	3	1	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1083A>T	p.Arg361Ser	p.R361S	ENST00000422556	3/3	73	59	14	117	117	0	strelka-varscan-mutect	SPATA2,missense_variant,p.Arg361Ser,ENST00000422556,NM_001135773.1;SPATA2,missense_variant,p.Arg361Ser,ENST00000289431,NM_006038.3;	A	ENST00000422556	Transcript	missense_variant	1433/4138	1083/1563	361/520	R/S	agA/agT		1		-1	SPATA2	HGNC	HGNC:14681	protein_coding	YES	CCDS13422.1	ENSP00000416799	Q9UM82		UPI000013557F	NM_001135773.1	tolerated(0.11)		3/3		hmmpanther:PTHR15326,hmmpanther:PTHR15326:SF8																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	39	49906099	49906099	T	A	1	0	0	0	0	1	0	0	0	15335	1780	62	4		4	SPATA2	20	49906099	Missense_Mutation	SNP	T	C3N-00175_TP	18204	49906099	14538068	1314	11464											
ZFP64	0	.	GRCh38	chr20	52085010	52085010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgcactctggacacttCtccgggtggtcggcctggtg	4	11	14	12	2	2	0	0	0	2	0	4	1	2	1	2	5	2	2	2	5	1	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1485G>T	p.Glu495Asp	p.E495D	ENST00000361387	9/9	109	81	28	104	104	0	strelka-varscan-mutect	ZFP64,missense_variant,p.Glu495Asp,ENST00000361387,NM_199427.2;ZFP64,missense_variant,p.Glu276Asp,ENST00000371523,NM_001319146.1;ZFP64,3_prime_UTR_variant,,ENST00000456175,;ZFP64,intron_variant,,ENST00000371518,;ZFP64,downstream_gene_variant,,ENST00000395989,;ZFP64,downstream_gene_variant,,ENST00000477786,;ZFP64,downstream_gene_variant,,ENST00000467811,;	A	ENST00000361387	Transcript	missense_variant	1546/2545	1485/1938	495/645	E/D	gaG/gaT		1		-1	ZFP64	HGNC	HGNC:15940	protein_coding		CCDS13439.1	ENSP00000355179	Q9NTW7		UPI000013C56C	NM_199427.2	tolerated(0.2)		9/9		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF34,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	52085010	52085010	C	A	1	0	0	0	0	1	0	0	0	18228	912	32	2		2	ZFP64	20	52085010	Missense_Mutation	SNP	C	C3N-00175_TP	2178911	52085010	12359157	1315	11465											
BMP7	0	.	GRCh38	chr20	57173175	57173175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccggcccaggtgaccaCaccccaagatggcgtgacac	9	4	11	17	2	0	3	0	2	0	1	0	3	0	3	5	3	1	0	5	3	1	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1171G>T	p.Val391Leu	p.V391L	ENST00000450594	6/6	300	215	85	354	354	0	strelka-varscan-mutect	BMP7,missense_variant,p.Val391Leu,ENST00000450594,;BMP7,intron_variant,,ENST00000395863,NM_001719.2;BMP7,intron_variant,,ENST00000395864,;BMP7,downstream_gene_variant,,ENST00000433911,;BMP7,intron_variant,,ENST00000460817,;BMP7,downstream_gene_variant,,ENST00000463939,;BMP7,intron_variant,,ENST00000476877,;	A	ENST00000450594	Transcript	missense_variant	1678/1857	1171/1239	391/412	V/L	Gtg/Ttg		1		-1	BMP7	HGNC	HGNC:1074	protein_coding			ENSP00000398687		B1AL00	UPI0000E5A357		tolerated_low_confidence(0.29)		6/6		PROSITE_profiles:PS51362,SMART_domains:SM00204																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	39	57173175	57173175	C	A	1	0	0	0	0	1	0	0	0	1620	478	17	2		2	BMP7	20	57173175	Missense_Mutation	SNP	C	C3N-00175_TP	5088165	57173175	7270992	1316	11466											
APCDD1L	0	.	GRCh38	chr20	58467445	58467445	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggcggctgtggaagacGatgcccaccttgtgcaggtg	6	7	16	12	3	0	1	0	0	0	1	0	3	0	2	3	4	2	2	3	4	1	1			C3N-00175_TP	C3N-00175_NB	G	G																c.402C>A	p.=	p.I134I	ENST00000371149	3/4	97	69	28	117	117	0	strelka-varscan-mutect	APCDD1L,synonymous_variant,p.=,ENST00000371149,NM_153360.2;APCDD1L,downstream_gene_variant,,ENST00000425773,;	T	ENST00000371149	Transcript	synonymous_variant	633/3426	402/1506	134/501	I	atC/atA	COSM3548213,COSM4893573	1		-1	APCDD1L	HGNC	HGNC:26892	protein_coding	YES	CCDS13467.1	ENSP00000360191	Q8NCL9		UPI000006F69F	NM_153360.2			3/4		Pfam_domain:PF14921,hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF3,SMART_domains:SM01352											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	39	58467445	58467445	G	T	1	0	0	0	0	0	0	0	1	886	1048	37	1		1	APCDD1L	20	58467445	Silent	SNP	G	C3N-00175_TP	1294270	58467445	5976722	1317	11467											
LAMA5	0	.	GRCh38	chr20	62322345	62322345	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcccatggtccctggtcgGcagtggcactgtccgctctg	3	10	14	14	2	1	0	0	0	1	0	5	0	4	0	3	5	0	3	3	5	0	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.6270C>T	p.=	p.C2090C	ENST00000252999	47/80	105	86	19	159	159	0	strelka-varscan-mutect	LAMA5,synonymous_variant,p.=,ENST00000252999,NM_005560.4;LAMA5,downstream_gene_variant,,ENST00000497363,;LAMA5,downstream_gene_variant,,ENST00000464134,;LAMA5,upstream_gene_variant,,ENST00000481120,;	A	ENST00000252999	Transcript	synonymous_variant	6337/11426	6270/11088	2090/3695	C	tgC/tgT		1		-1	LAMA5	HGNC	HGNC:6485	protein_coding	YES	CCDS33502.1	ENSP00000252999	O15230		UPI0000161FDC	NM_005560.4			47/80		PROSITE_profiles:PS50027,PROSITE_patterns:PS01248,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	62322345	62322345	G	A	1	0	0	0	0	0	0	0	1	8513	1195	42	3		3	LAMA5	20	62322345	Silent	SNP	G	C3N-00175_TP	3854900	62322345	2121822	1318	11468											
OGFR	0	.	GRCh38	chr20	62808281	62808281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgcaatggggacacgcCaaacctgagtttctacagaa	14	7	10	10	1	1	3	0	1	1	2	1	4	1	4	2	2	3	2	2	2	4	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.275C>G	p.Pro92Arg	p.P92R	ENST00000290291	3/7	153	113	40	214	214	0	strelka-varscan-mutect	OGFR,missense_variant,p.Pro40Arg,ENST00000370461,;OGFR,missense_variant,p.Pro92Arg,ENST00000290291,NM_007346.2;OGFR,missense_variant,p.Pro92Arg,ENST00000621591,;OGFR,missense_variant,p.Pro33Arg,ENST00000450048,;OGFR-AS1,upstream_gene_variant,,ENST00000431361,;	G	ENST00000290291	Transcript	missense_variant	300/2410	275/2034	92/677	P/R	cCa/cGa		1		1	OGFR	HGNC	HGNC:15768	protein_coding	YES	CCDS13504.1	ENSP00000290291	Q9NZT2		UPI000013F107	NM_007346.2	tolerated(0.27)		3/7		Pfam_domain:PF04664,hmmpanther:PTHR14015,hmmpanther:PTHR14015:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	62808281	62808281	C	G	1	0	0	0	0	1	0	0	0	10918	594	21	4		4	OGFR	20	62808281	Missense_Mutation	SNP	C	C3N-00175_TP	485936	62808281	1635886	1319	11469											
OGFR	0	.	GRCh38	chr20	62812634	62812634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatagcaagggtgggggcaGggtggacgaggggccccagc	8	3	21	9	1	0	0	0	0	0	0	0	2	0	1	2	7	2	3	2	7	2	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1019G>T	p.Arg340Met	p.R340M	ENST00000290291	7/7	217	157	60	264	264	0	strelka-varscan-mutect	OGFR,missense_variant,p.Arg288Met,ENST00000370461,;OGFR,missense_variant,p.Arg340Met,ENST00000290291,NM_007346.2;OGFR,intron_variant,,ENST00000621591,;COL9A3,upstream_gene_variant,,ENST00000343916,NM_001853.3;OGFR,downstream_gene_variant,,ENST00000450048,;COL9A3,upstream_gene_variant,,ENST00000489045,;COL9A3,upstream_gene_variant,,ENST00000477612,;	T	ENST00000290291	Transcript	missense_variant	1044/2410	1019/2034	340/677	R/M	aGg/aTg		1		1	OGFR	HGNC	HGNC:15768	protein_coding	YES	CCDS13504.1	ENSP00000290291	Q9NZT2		UPI000013F107	NM_007346.2	tolerated(0.06)		7/7		hmmpanther:PTHR14015,hmmpanther:PTHR14015:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	62812634	62812634	G	T	1	0	0	0	0	1	0	0	0	10918	1000	35	2		2	OGFR	20	62812634	Missense_Mutation	SNP	G	C3N-00175_TP	4353	62812634	1631533	1320	11470											
COL20A1	0	.	GRCh38	chr20	63310492	63310492	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggggttggcgaaggcctgCggggcctggtgaccacaggt	5	6	20	10	3	0	1	0	1	0	0	0	2	0	1	3	8	1	1	3	8	1	1	rs535665257		C3N-00175_TP	C3N-00175_NB	C	C																c.1375C>A	p.=	p.R459R	ENST00000358894	11/36	123	109	14	151	151	0	strelka-mutect	COL20A1,synonymous_variant,p.=,ENST00000422202,;COL20A1,synonymous_variant,p.=,ENST00000358894,NM_020882.2;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;	A	ENST00000358894	Transcript	synonymous_variant	1475/4172	1375/3855	459/1284	R	Cgg/Agg	rs535665257	1		1	COL20A1	HGNC	HGNC:14670	protein_coding	YES	CCDS46628.1	ENSP00000351767	Q9P218		UPI000051910D	NM_020882.2			11/36		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,Low_complexity_(Seg):seg,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		rs535665257	.												A	2	1	39	63310492	63310492	C	A	1	0	0	0	0	0	0	0	1	3467	759	27	1		1	COL20A1	20	63310492	Silent	SNP	C	C3N-00175_TP	497858	63310492	1133675	1321	11471											
CHRNA4	0	.	GRCh38	chr20	63356372	63356372	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgccctcccactcaccTgcttcacccatacgttcgtg	6	10	7	18	2	2	0	2	0	0	0	4	0	3	0	4	0	3	3	4	0	1	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.272A>C	p.Gln91Pro	p.Q91P	ENST00000370263	3/6	336	296	40	396	396	0	strelka-varscan-mutect	CHRNA4,missense_variant,p.Gln91Pro,ENST00000370263,NM_001256573.1,NM_000744.6;CHRNA4,splice_region_variant,,ENST00000615287,;RP11-261N11.8,upstream_gene_variant,,ENST00000370257,;CHRNA4,splice_region_variant,,ENST00000467563,;CHRNA4,splice_region_variant,,ENST00000628665,;CHRNA4,intron_variant,,ENST00000463705,;CHRNA4,upstream_gene_variant,,ENST00000636652,;CHRNA4,downstream_gene_variant,,ENST00000636481,;CHRNA4,downstream_gene_variant,,ENST00000637443,;CHRNA4,downstream_gene_variant,,ENST00000636726,;CHRNA4,upstream_gene_variant,,ENST00000637628,;CHRNA4,upstream_gene_variant,,ENST00000637243,;CHRNA4,missense_variant,p.Gln91Pro,ENST00000627000,;CHRNA4,missense_variant,p.Gln66Pro,ENST00000498043,;CHRNA4,upstream_gene_variant,,ENST00000627869,;CHRNA4,downstream_gene_variant,,ENST00000626188,;CHRNA4,downstream_gene_variant,,ENST00000628606,;	G	ENST00000370263	Transcript	missense_variant,splice_region_variant	450/5577	272/1884	91/627	Q/P	cAg/cCg		1		-1	CHRNA4	HGNC	HGNC:1958	protein_coding	YES	CCDS13517.1	ENSP00000359285	P43681		UPI000012523B	NM_001256573.1,NM_000744.6	deleterious(0)		3/6		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR00252,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF401,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	63356372	63356372	T	G	1	0	0	0	0	1	0	0	0	3145	1594	55	5		5	CHRNA4	20	63356372	Missense_Mutation	SNP	T	C3N-00175_TP	45880	63356372	1087795	1322	11472											
ZBTB46	0	.	GRCh38	chr20	63747062	63747062	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgtcctcgcccagctcCtccgcctcccctcgtgggtc	1	10	9	21	5	0	0	0	0	0	0	9	0	4	0	7	1	1	1	7	1	0	0	rs757444968		C3N-00175_TP	C3N-00175_NB	C	C																c.1638G>A	p.=	p.E546E	ENST00000395104	4/4	225	209	16	344	344	0	strelka-varscan-mutect	ZBTB46,synonymous_variant,p.=,ENST00000395104,NM_025224.3;ZBTB46,synonymous_variant,p.=,ENST00000245663,;ZBTB46,synonymous_variant,p.=,ENST00000302995,;SLC2A4RG,downstream_gene_variant,,ENST00000266077,NM_020062.3;RP4-583P15.10,downstream_gene_variant,,ENST00000447343,;RP4-583P15.10,downstream_gene_variant,,ENST00000433905,;SLC2A4RG,downstream_gene_variant,,ENST00000493772,;SLC2A4RG,downstream_gene_variant,,ENST00000473157,;SLC2A4RG,downstream_gene_variant,,ENST00000491109,;SLC2A4RG,downstream_gene_variant,,ENST00000474248,;SLC2A4RG,downstream_gene_variant,,ENST00000482718,;SLC2A4RG,downstream_gene_variant,,ENST00000485897,;SLC2A4RG,downstream_gene_variant,,ENST00000496425,;	T	ENST00000395104	Transcript	synonymous_variant	1804/5198	1638/1770	546/589	E	gaG/gaA	rs757444968,COSM4529731	1		-1	ZBTB46	HGNC	HGNC:16094	protein_coding	YES	CCDS13538.1	ENSP00000378536	Q86UZ6		UPI0000206406	NM_025224.3			4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR19303:SF270,hmmpanther:PTHR19303											0,1						LOW		SNV	2		0,1	1										PASS		rs757444968	.												T	2	4	39	63747062	63747062	C	T	1	0	0	0	0	0	0	0	1	18117	680	24	3		3	ZBTB46	20	63747062	Silent	SNP	C	C3N-00175_TP	390690	63747062	697105	1323	11473											
APP	0	.	GRCh38	chr21	26170590	26170590	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcccgagccgtccaggcggCcagcaggagcagtgccaaac	9	2	14	16	4	0	0	0	0	0	0	1	2	1	1	5	3	5	2	5	3	1	0	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.31G>T	p.Ala11Ser	p.A11S	ENST00000346798	1/18	273	214	59	294	294	0	strelka-varscan-mutect	APP,missense_variant,p.Ala11Ser,ENST00000357903,NM_201413.2,NM_001204302.1;APP,missense_variant,p.Ala11Ser,ENST00000346798,NM_000484.3;APP,missense_variant,p.Ala11Ser,ENST00000348990,NM_201414.2,NM_001204303.1;APP,missense_variant,p.Ala11Ser,ENST00000354192,NM_001136129.2;APP,missense_variant,p.Ala11Ser,ENST00000439274,NM_001136130.2;APP,missense_variant,p.Ala11Ser,ENST00000358918,NM_001204301.1;APP,intron_variant,,ENST00000359726,NM_001136131.2;AP000230.1,upstream_gene_variant,,ENST00000608591,;AP000230.1,upstream_gene_variant,,ENST00000609365,;AP001439.2,intron_variant,,ENST00000455275,;APP,non_coding_transcript_exon_variant,,ENST00000474136,;APP,upstream_gene_variant,,ENST00000466453,;	A	ENST00000346798	Transcript	missense_variant	65/3467	31/2313	11/770	A/S	Gcc/Tcc		1		-1	APP	HGNC	HGNC:620	protein_coding	YES	CCDS13576.1	ENSP00000284981	P05067	A0A140VJC8	UPI000002DB1C	NM_000484.3	tolerated(0.52)		1/18		hmmpanther:PTHR23103,hmmpanther:PTHR23103:SF7,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs1180882911	.												A	3	1	39	26170590	26170590	C	A	1	0	0	0	0	1	0	0	0	938	739	26	2		2	APP	21	26170590	Missense_Mutation	SNP	C	C3N-00175_TP		26170590	20539393	1324	11474											
KRTAP6-1	0	.	GRCh38	chr21	30613857	30613857	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggcctccatagccacagaaCccatagccaggggtgccata	12	5	10	14	0	0	1	0	0	0	1	1	1	1	1	6	3	4	0	6	3	4	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.48G>A	p.=	p.G16G	ENST00000329122	1/1	246	189	57	278	277	1	strelka-varscan-mutect	KRTAP6-1,synonymous_variant,p.=,ENST00000329122,NM_181602.1;KRTAP20-1,upstream_gene_variant,,ENST00000334664,NM_181615.1;	T	ENST00000329122	Transcript	synonymous_variant	74/500	48/216	16/71	G	ggG/ggA		1		-1	KRTAP6-1	HGNC	HGNC:18931	protein_coding	YES	CCDS13602.1	ENSP00000332690	Q3LI64		UPI00001A9E58	NM_181602.1			1/1		hmmpanther:PTHR31678,Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		.	.												T	2	4	39	30613857	30613857	C	T	1	0	0	0	0	0	0	0	1	8464	494	18	3		3	KRTAP6-1	21	30613857	Silent	SNP	C	C3N-00175_TP	4443267	30613857	16096126	1325	11475											
URB1	0	.	GRCh38	chr21	32337432	32337432	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagagtggcgccataggcCccgagaagcactgcaaagtg	11	5	14	11	2	0	2	0	1	0	2	0	4	0	2	3	2	2	2	3	2	3	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.4593G>T	p.=	p.G1531G	ENST00000382751	27/39	131	105	26	153	152	1	strelka-varscan-mutect	URB1,synonymous_variant,p.=,ENST00000382751,NM_014825.2;URB1,upstream_gene_variant,,ENST00000492603,;URB1,upstream_gene_variant,,ENST00000480196,;	A	ENST00000382751	Transcript	synonymous_variant	4709/10832	4593/6816	1531/2271	G	ggG/ggT		1		-1	URB1	HGNC	HGNC:17344	protein_coding	YES	CCDS46645.1	ENSP00000372199	O60287		UPI0000185F65	NM_014825.2			27/39		hmmpanther:PTHR13500																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	32337432	32337432	C	A	1	0	0	0	0	0	0	0	1	17554	610	22	2		2	URB1	21	32337432	Silent	SNP	C	C3N-00175_TP	1723575	32337432	14372551	1326	11476											
C21orf59	0	.	GRCh38	chr21	32604133	32604133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaactacgtacctgtgttcCcgacaagtcttccttatttt	9	15	5	12	2	1	0	0	0	1	0	3	1	3	0	3	0	3	2	3	0	5	7	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.526G>C	p.Gly176Arg	p.G176R	ENST00000290155	4/7	75	59	16	73	73	0	strelka-varscan-mutect	C21orf59,missense_variant,p.Gly176Arg,ENST00000382549,;C21orf59,missense_variant,p.Gly176Arg,ENST00000290155,NM_021254.2;C21orf59,missense_variant,p.Gly176Arg,ENST00000440966,;AP000275.65,missense_variant,p.Gly176Arg,ENST00000553001,;AP000275.65,missense_variant,p.Gly144Arg,ENST00000431216,;C21orf59,missense_variant,p.Gly24Arg,ENST00000425336,;C21orf59,missense_variant,p.Gly159Arg,ENST00000458138,;C21orf59,upstream_gene_variant,,ENST00000431599,;C21orf59,3_prime_UTR_variant,,ENST00000300260,;C21orf59,non_coding_transcript_exon_variant,,ENST00000483315,;	G	ENST00000290155	Transcript	missense_variant	1149/1692	526/873	176/290	G/R	Gga/Cga		1		-1	C21orf59	HGNC	HGNC:1301	protein_coding	YES	CCDS13617.1	ENSP00000290155	P57076		UPI00001286B0	NM_021254.2	deleterious(0)		4/7		hmmpanther:PTHR13238																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	32604133	32604133	C	G	1	0	0	0	0	1	0	0	0	2014	632	22	4		4	C21orf59	21	32604133	Missense_Mutation	SNP	C	C3N-00175_TP	266701	32604133	14105850	1327	11477											
ITSN1	0	.	GRCh38	chr21	33772230	33772230	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccaggagcaagagcgcaaAagacaactggaactggagaa	17	2	13	9	2	0	3	0	0	0	3	0	6	0	5	1	3	4	2	1	3	6	0	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1212A>T	p.Lys404Asn	p.K404N	ENST00000381318	12/40	434	368	66	460	460	0	strelka-varscan-mutect	ITSN1,missense_variant,p.Lys404Asn,ENST00000381318,NM_003024.2;ITSN1,missense_variant,p.Lys367Asn,ENST00000381285,;ITSN1,missense_variant,p.Lys404Asn,ENST00000399367,;ITSN1,missense_variant,p.Lys404Asn,ENST00000381291,NM_001001132.1;ITSN1,missense_variant,p.Lys404Asn,ENST00000399352,;ITSN1,missense_variant,p.Lys404Asn,ENST00000399349,;ITSN1,missense_variant,p.Lys404Asn,ENST00000399355,;ITSN1,missense_variant,p.Lys367Asn,ENST00000399353,;ITSN1,missense_variant,p.Lys404Asn,ENST00000399338,;ITSN1,missense_variant,p.Lys344Asn,ENST00000381283,;ITSN1,3_prime_UTR_variant,,ENST00000379960,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,non_coding_transcript_exon_variant,,ENST00000488166,;ITSN1,upstream_gene_variant,,ENST00000474132,;	T	ENST00000381318	Transcript	missense_variant	1500/17015	1212/5166	404/1721	K/N	aaA/aaT		1		1	ITSN1	HGNC	HGNC:6183	protein_coding	YES	CCDS33545.1	ENSP00000370719	Q15811		UPI00001403C6	NM_003024.2	deleterious(0)		12/40		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF68																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	33772230	33772230	A	T	1	0	0	0	0	1	0	0	0	7832	11	1	4		4	ITSN1	21	33772230	Missense_Mutation	SNP	A	C3N-00175_TP	1168097	33772230	12937753	1328	11478											
UMODL1	0	.	GRCh38	chr21	42076168	42076168	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttaccggacacagtacctGgtagtggaggtccccgagtc	8	9	13	11	2	0	0	0	0	0	0	2	3	1	2	4	4	2	3	4	4	3	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.240G>T	p.=	p.L80L	ENST00000408989	2/22	356	274	82	363	362	1	strelka-varscan-mutect	UMODL1,synonymous_variant,p.=,ENST00000400424,NM_001199528.2;UMODL1,synonymous_variant,p.=,ENST00000400427,NM_001199527.1;UMODL1,synonymous_variant,p.=,ENST00000408989,NM_173568.3;UMODL1,synonymous_variant,p.=,ENST00000408910,NM_001004416.2;	T	ENST00000408989	Transcript	synonymous_variant	240/5262	240/4341	80/1446	L	ctG/ctT		1		1	UMODL1	HGNC	HGNC:12560	protein_coding	YES	CCDS42935.1	ENSP00000386126	Q5DID0		UPI0000D6254B	NM_173568.3			2/22		PROSITE_profiles:PS51041,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF262																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	42076168	42076168	G	T	1	0	0	0	0	0	0	0	1	17504	1335	47	2		2	UMODL1	21	42076168	Silent	SNP	G	C3N-00175_TP	8303938	42076168	4633815	1329	11479											
UMODL1	0	.	GRCh38	chr21	42084186	42084186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttggacatcgactgtcctgGacttgagaagtgctgcccct	7	11	11	12	1	0	1	0	1	0	1	2	5	1	3	3	2	2	1	3	2	1	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.422G>A	p.Gly141Glu	p.G141E	ENST00000408989	3/22	195	169	26	219	219	0	strelka-varscan-mutect	UMODL1,missense_variant,p.Gly69Glu,ENST00000400424,NM_001199528.2;UMODL1,missense_variant,p.Gly69Glu,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.Gly141Glu,ENST00000408989,NM_173568.3;UMODL1,missense_variant,p.Gly141Glu,ENST00000408910,NM_001004416.2;UMODL1,upstream_gene_variant,,ENST00000491559,;UMODL1,upstream_gene_variant,,ENST00000466434,;UMODL1,upstream_gene_variant,,ENST00000400421,;UMODL1,upstream_gene_variant,,ENST00000468982,;UMODL1,upstream_gene_variant,,ENST00000485357,;UMODL1,upstream_gene_variant,,ENST00000497243,;	A	ENST00000408989	Transcript	missense_variant	422/5262	422/4341	141/1446	G/E	gGa/gAa		1		1	UMODL1	HGNC	HGNC:12560	protein_coding	YES	CCDS42935.1	ENSP00000386126	Q5DID0		UPI0000D6254B	NM_173568.3	tolerated(0.06)		3/22		Gene3D:4.10.75.10,Pfam_domain:PF00095,PROSITE_profiles:PS51390,SMART_domains:SM00217,Superfamily_domains:SSF57256																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	42084186	42084186	G	A	1	0	0	0	0	1	0	0	0	17504	1174	41	3		3	UMODL1	21	42084186	Missense_Mutation	SNP	G	C3N-00175_TP	8018	42084186	4625797	1330	11480											
WDR4	0	.	GRCh38	chr21	42862353	42862353	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgactcggatcttctcgtcCcggtcggcagtgaggatgaa	7	10	13	11	4	2	3	0	3	2	0	6	5	3	5	1	4	0	1	1	4	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.495G>T	p.=	p.R165R	ENST00000398208	5/11	182	144	38	216	216	0	strelka-varscan-mutect	WDR4,synonymous_variant,p.=,ENST00000398208,NM_001260474.1,NM_001260476.1,NM_018669.5,NM_001260475.1;WDR4,synonymous_variant,p.=,ENST00000330317,NM_033661.4;WDR4,non_coding_transcript_exon_variant,,ENST00000492742,;WDR4,non_coding_transcript_exon_variant,,ENST00000476326,;WDR4,non_coding_transcript_exon_variant,,ENST00000470658,;WDR4,non_coding_transcript_exon_variant,,ENST00000479429,;WDR4,non_coding_transcript_exon_variant,,ENST00000463902,;	A	ENST00000398208	Transcript	synonymous_variant	555/2122	495/1239	165/412	R	cgG/cgT		1		-1	WDR4	HGNC	HGNC:12756	protein_coding	YES	CCDS13691.1	ENSP00000381266	P57081		UPI00000372F0	NM_001260474.1,NM_001260476.1,NM_018669.5,NM_001260475.1			5/11		PROSITE_profiles:PS50294,HAMAP:MF_03056,hmmpanther:PTHR16288:SF0,hmmpanther:PTHR16288,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		rs977219340	.												A	2	1	39	42862353	42862353	C	A	1	0	0	0	0	0	0	0	1	17853	610	22	2		2	WDR4	21	42862353	Silent	SNP	C	C3N-00175_TP	778167	42862353	3847630	1331	11481											
KRTAP10-4	0	.	GRCh38	chr21	44573914	44573914	+	Frame_Shift_Del	DEL	C	C	-																															tgctgcgccccggccccctgCctgagcctggtctgcacccc																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.157delC	p.Leu53Ter	p.L53*	ENST00000400374	1/1	395	337	58	502	502	0	sindel-varindel-pindel	KRTAP10-4,frameshift_variant,p.Leu53Ter,ENST00000400374,NM_198687.2;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,upstream_gene_variant,,ENST00000397916,;	-	ENST00000400374	Transcript	frameshift_variant	186/1643	156/1206	52/401	C/X	tgC/tg		1		1	KRTAP10-4	HGNC	HGNC:20521	protein_coding	YES	CCDS42957.1	ENSP00000383225	P60372		UPI00003D4D6E	NM_198687.2			1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF72,Low_complexity_(Seg):seg																	HIGH		deletion		1		1										PASS		.	.												-	7	5	39	44573914	44573914	C	-	1	0	1	0	1	0	0	0	0	8394	747	26	0		0	KRTAP10-4	21	44573914	Frame_Shift_Del	DEL	C	C3N-00175_TP	1711561	44573914	2136069	1332	11482											
KRTAP10-7	0	.	GRCh38	chr21	44600891	44600891	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctgcacgccctcgtgctgCcagcagtctagctgccagct	5	9	10	17	2	1	0	0	0	1	0	3	0	2	0	4	0	7	5	4	0	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.270C>A	p.Cys90Ter	p.C90*	ENST00000609664	1/1	637	547	90	705	704	1	varscan-mutect	KRTAP10-7,stop_gained,p.Cys90Ter,ENST00000609664,NM_198689.2;KRTAP10-7,stop_gained,p.Cys85Ter,ENST00000616689,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;	A	ENST00000609664	Transcript	stop_gained	295/1578	270/1113	90/370	C/*	tgC/tgA		1		1	KRTAP10-7	HGNC	HGNC:22970	protein_coding	YES	CCDS74803.1	ENSP00000476821	P60409		UPI000021C43E	NM_198689.2			1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF72,Low_complexity_(Seg):seg																	HIGH		SNV				1										PASS		.	.												A	4	1	39	44600891	44600891	C	A	1	0	0	0	0	0	1	0	0	8397	747	26	2		2	KRTAP10-7	21	44600891	Nonsense_Mutation	SNP	C	C3N-00175_TP	26977	44600891	2109092	1333	11483											
ITGB2	0	.	GRCh38	chr21	44886742	44886742	+	Frame_Shift_Del	DEL	C	C	-																															ggacggccacttacattgttCcactgggacttgagcttctc																								rs868212330		C3N-00175_TP	C3N-00175_NB	C	C																c.2241delG	p.Trp747Ter	p.W747*	ENST00000397850	16/17	412	322	90	530	530	0	sindel-varindel-pindel	ITGB2,frameshift_variant,p.Trp747Ter,ENST00000397850,;ITGB2,frameshift_variant,p.Trp747Ter,ENST00000302347,NM_001303238.1,NM_000211.4;ITGB2,frameshift_variant,p.Trp747Ter,ENST00000355153,NM_001127491.2;ITGB2,frameshift_variant,p.Trp747Ter,ENST00000397857,;ITGB2,frameshift_variant,p.Trp747Ter,ENST00000397852,;ITGB2,frameshift_variant,p.Trp690Ter,ENST00000397854,;ITGB2,3_prime_UTR_variant,,ENST00000523323,;ITGB2,non_coding_transcript_exon_variant,,ENST00000498666,;ITGB2,non_coding_transcript_exon_variant,,ENST00000475170,;ITGB2,non_coding_transcript_exon_variant,,ENST00000479202,;	-	ENST00000397850	Transcript	frameshift_variant	2694/3178	2241/2310	747/769	W/X	tgG/tg	rs868212330,COSM3551540	1		-1	ITGB2	HGNC	HGNC:6155	protein_coding	YES	CCDS13716.1	ENSP00000380948	P05107		UPI0000000C70				16/17		Gene3D:1.20.5.100,Pfam_domain:PF08725,PIRSF_domain:PIRSF002512,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF15,SMART_domains:SM01241											0,1						HIGH	1	deletion	5		0,1	1										PASS		.	.												-	7	5	39	44886742	44886742	C	-	1	0	1	0	1	0	0	0	0	7800	856	30	0		0	ITGB2	21	44886742	Frame_Shift_Del	DEL	C	C3N-00175_TP	285851	44886742	1823241	1334	11484											
ADARB1	0	.	GRCh38	chr21	45185091	45185091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtgacaagattgcacGgtaaggggcgggggctccct	8	7	16	10	2	0	2	0	1	0	1	1	2	1	2	1	5	2	4	1	5	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1685G>T	p.Arg562Leu	p.R562L	ENST00000360697	7/10	72	53	19	72	72	0	strelka-varscan-mutect	ADARB1,missense_variant,p.Arg522Leu,ENST00000348831,NM_001112.3;ADARB1,missense_variant,p.Arg562Leu,ENST00000360697,;ADARB1,missense_variant,p.Arg562Leu,ENST00000437626,NM_015833.3;ADARB1,missense_variant,p.Arg550Leu,ENST00000629643,;ADARB1,missense_variant,p.Arg562Leu,ENST00000389863,NM_001160230.1,NM_015834.3;ADARB1,splice_region_variant,,ENST00000389861,;ADARB1,downstream_gene_variant,,ENST00000631642,;ADARB1,missense_variant,p.Arg562Leu,ENST00000496664,;ADARB1,missense_variant,p.Arg522Leu,ENST00000492414,;	T	ENST00000360697	Transcript	missense_variant,splice_region_variant	1700/6604	1685/2226	562/741	R/L	cGc/cTc		1		1	ADARB1	HGNC	HGNC:226	protein_coding	YES	CCDS33589.1	ENSP00000353920	P78563		UPI0000133622		deleterious(0)		7/10		Pfam_domain:PF02137,PROSITE_profiles:PS50141,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF58,SMART_domains:SM00552																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	45185091	45185091	G	T	1	0	0	0	0	1	0	0	0	326	1130	39	1		1	ADARB1	21	45185091	Missense_Mutation	SNP	G	C3N-00175_TP	298349	45185091	1524892	1335	11485											
ADARB1	0	.	GRCh38	chr21	45222098	45222098	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggcaaaggagtaccaGgccgccaaggcgcgtctgtt	8	6	15	12	4	1	0	0	0	1	0	1	1	1	1	3	5	1	3	3	5	3	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2127G>A	p.=	p.Q709Q	ENST00000360697	10/10	136	98	38	158	157	1	strelka-varscan-mutect	ADARB1,synonymous_variant,p.=,ENST00000348831,NM_001112.3;ADARB1,synonymous_variant,p.=,ENST00000360697,;ADARB1,synonymous_variant,p.=,ENST00000437626,NM_015833.3;ADARB1,synonymous_variant,p.=,ENST00000629643,;ADARB1,synonymous_variant,p.=,ENST00000389863,NM_001160230.1,NM_015834.3;ADARB1,non_coding_transcript_exon_variant,,ENST00000389861,;ADARB1,synonymous_variant,p.=,ENST00000496664,;ADARB1,synonymous_variant,p.=,ENST00000492414,;	A	ENST00000360697	Transcript	synonymous_variant	2142/6604	2127/2226	709/741	Q	caG/caA		1		1	ADARB1	HGNC	HGNC:226	protein_coding	YES	CCDS33589.1	ENSP00000353920	P78563		UPI0000133622				10/10		Pfam_domain:PF02137,PROSITE_profiles:PS50141,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF58,SMART_domains:SM00552																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	45222098	45222098	G	A	1	0	0	0	0	0	0	0	1	326	991	35	3		3	ADARB1	21	45222098	Silent	SNP	G	C3N-00175_TP	37007	45222098	1487885	1336	11486											
COL6A1	0	.	GRCh38	chr21	46003485	46003485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccaagcgcttcgccaaGcgcctggccgagcgcttcct	7	6	10	18	5	0	0	0	0	0	0	2	1	1	0	6	1	3	2	6	1	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2559G>T	p.Lys853Asn	p.K853N	ENST00000361866	35/35	198	148	50	247	247	0	strelka-varscan-mutect	COL6A1,missense_variant,p.Lys853Asn,ENST00000361866,NM_001848.2;COL6A1,missense_variant,p.Lys851Asn,ENST00000612273,;COL6A1,non_coding_transcript_exon_variant,,ENST00000498614,;COL6A1,non_coding_transcript_exon_variant,,ENST00000486023,;COL6A1,downstream_gene_variant,,ENST00000463060,;COL6A1,downstream_gene_variant,,ENST00000466285,;	T	ENST00000361866	Transcript	missense_variant	2673/4238	2559/3087	853/1028	K/N	aaG/aaT		1		1	COL6A1	HGNC	HGNC:2211	protein_coding	YES	CCDS13727.1	ENSP00000355180	P12109		UPI000019B179	NM_001848.2	deleterious(0.02)		35/35		PROSITE_profiles:PS50234,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF390,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		rs1227702618	.												T	3	4	39	46003485	46003485	G	T	1	0	0	0	0	1	0	0	0	3488	962	34	2		2	COL6A1	21	46003485	Missense_Mutation	SNP	G	C3N-00175_TP	781387	46003485	706498	1337	11487											
COL6A2	0	.	GRCh38	chr21	46119053	46119053	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatcaaggcaacagtggagcCccaggaagtcctggtgtgaa	12	7	13	9	0	1	1	1	1	0	0	2	3	2	3	3	4	2	1	3	4	5	1	rs769165553		C3N-00175_TP	C3N-00175_NB	C	C																c.1203C>A	p.=	p.A401A	ENST00000300527	14/28	286	221	65	307	306	1	strelka-varscan-mutect	COL6A2,synonymous_variant,p.=,ENST00000300527,NM_001849.3;COL6A2,synonymous_variant,p.=,ENST00000310645,NM_058175.2;COL6A2,synonymous_variant,p.=,ENST00000409416,;COL6A2,synonymous_variant,p.=,ENST00000397763,NM_058174.2;COL6A2,upstream_gene_variant,,ENST00000413758,;COL6A2,downstream_gene_variant,,ENST00000485591,;	A	ENST00000300527	Transcript	synonymous_variant	1307/3461	1203/3060	401/1019	A	gcC/gcA	rs769165553	1		1	COL6A2	HGNC	HGNC:2212	protein_coding	YES	CCDS13728.1	ENSP00000300527	P12110		UPI00001AECE0	NM_001849.3			14/28		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF119,hmmpanther:PTHR24023																	LOW	1	SNV	1			1										PASS		rs769165553	.												A	2	1	39	46119053	46119053	C	A	1	0	0	0	0	0	0	0	1	3489	610	22	2		2	COL6A2	21	46119053	Silent	SNP	C	C3N-00175_TP	115568	46119053	590930	1338	11488											
FTCD	0	.	GRCh38	chr21	46138640	46138640	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctcctgtagggccgcCgtgcgcctgaaaggagcaag	9	5	14	13	3	0	2	0	1	0	1	1	3	1	3	5	2	2	2	5	2	3	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1311G>C	p.=	p.T437T	ENST00000291670	12/15	282	225	57	332	332	0	strelka-varscan-mutect	FTCD,missense_variant,p.Gly423Arg,ENST00000397743,;FTCD,synonymous_variant,p.=,ENST00000397748,NM_001320412.1;FTCD,synonymous_variant,p.=,ENST00000291670,NM_006657.2;FTCD,synonymous_variant,p.=,ENST00000397746,NM_206965.1;FTCD,upstream_gene_variant,,ENST00000446405,;FTCD,non_coding_transcript_exon_variant,,ENST00000498355,;FTCD,non_coding_transcript_exon_variant,,ENST00000460011,;FTCD,non_coding_transcript_exon_variant,,ENST00000494498,;FTCD,non_coding_transcript_exon_variant,,ENST00000488577,;FTCD,upstream_gene_variant,,ENST00000483568,;	G	ENST00000291670	Transcript	synonymous_variant	1355/1905	1311/1626	437/541	T	acG/acC		1		-1	FTCD	HGNC	HGNC:3974	protein_coding	YES	CCDS13731.1	ENSP00000291670	O95954		UPI000012AC75	NM_006657.2			12/15		Superfamily_domains:0041691,Pfam_domain:PF04961,hmmpanther:PTHR12234,hmmpanther:PTHR12234:SF0																	LOW	1	SNV	1			1										PASS		rs1413956976	.												G	2	3	39	46138640	46138640	C	G	1	0	0	0	0	0	0	0	1	5955	652	23	4		4	FTCD	21	46138640	Silent	SNP	C	C3N-00175_TP	19587	46138640	571343	1339	11489											
DIP2A	0	.	GRCh38	chr21	46547011	46547011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggccaccgcactggccGtggagcccatgaagtttgtc	6	10	13	12	2	0	1	0	1	0	0	1	2	0	2	4	3	1	2	4	3	1	2	rs765372886		C3N-00175_TP	C3N-00175_NB	G	G																c.2491G>T	p.Val831Leu	p.V831L	ENST00000417564	21/38	193	157	36	221	221	0	strelka-varscan-mutect	DIP2A,missense_variant,p.Val827Leu,ENST00000400274,NM_001146116.1;DIP2A,missense_variant,p.Val831Leu,ENST00000417564,NM_015151.3;DIP2A,missense_variant,p.Val831Leu,ENST00000457905,NM_206889.2;DIP2A,missense_variant,p.Val831Leu,ENST00000435722,NM_206891.2,NM_206890.2;DIP2A,missense_variant,p.Val788Leu,ENST00000466639,NM_001146115.1;DIP2A,downstream_gene_variant,,ENST00000473752,;DIP2A,non_coding_transcript_exon_variant,,ENST00000480553,;DIP2A,downstream_gene_variant,,ENST00000494435,;	T	ENST00000417564	Transcript	missense_variant	2512/6967	2491/4716	831/1571	V/L	Gtg/Ttg	rs765372886,COSM5519778,COSM5519779,COSM5519780,COSM5519781	1		1	DIP2A	HGNC	HGNC:17217	protein_coding	YES	CCDS46655.1	ENSP00000392066	Q14689		UPI00001B2E47	NM_015151.3	deleterious(0)		21/38		hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF24,Superfamily_domains:SSF56801											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs765372886	.												T	3	4	39	46547011	46547011	G	T	1	0	0	0	0	1	0	0	0	4332	1145	40	1		1	DIP2A	21	46547011	Missense_Mutation	SNP	G	C3N-00175_TP	408371	46547011	162972	1340	11490											
OR11H1	0	.	GRCh38	chr22	15528900	15528900	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtatgccttcaagcactGggagacataaggccttctct	9	11	11	10	0	2	1	1	0	1	1	3	2	2	1	2	3	2	2	2	3	3	4	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.742G>C	p.Gly248Arg	p.G248R	ENST00000252835	1/1	571	472	99	456	456	0	strelka-varscan-mutect	OR11H1,missense_variant,p.Gly248Arg,ENST00000252835,NM_001005239.1;	C	ENST00000252835	Transcript	missense_variant	743/982	742/981	248/326	G/R	Ggg/Cgg		1		1	OR11H1	HGNC	HGNC:15404	protein_coding	YES	CCDS74807.1	ENSP00000252835	Q8NG94		UPI000004B1CF	NM_001005239.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF201,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1254271205	.												C	3	2	39	15528900	15528900	G	C	1	0	0	0	0	1	0	0	0	11002	1348	47	4		4	OR11H1	22	15528900	Missense_Mutation	SNP	G	C3N-00175_TP		15528900	35289568	1341	11491											
POTEH	0	.	GRCh38	chr22	15690171	15690171	+	Frame_Shift_Del	DEL	T	T	-																															gcaagtggtgccgccactgcTtcgcctggtgcagggggagc																								rs773123715		C3N-00175_TP	C3N-00175_NB	T	T																c.95delT	p.Phe32SerfsTer23	p.F32Sfs*23	ENST00000343518	1/11	839	770	69	705	705	0	sindel-varindel-pindel	POTEH,frameshift_variant,p.Phe32SerfsTer23,ENST00000343518,NM_001136213.1;POTEH,frameshift_variant,p.Phe32SerfsTer23,ENST00000621704,;POTEH,upstream_gene_variant,,ENST00000452800,;	-	ENST00000343518	Transcript	frameshift_variant	146/1928	94/1638	32/545	F/X	Ttc/tc	rs773123715	1		1	POTEH	HGNC	HGNC:133	protein_coding	YES	CCDS74808.1	ENSP00000340610	Q6S545		UPI0000E5A425	NM_001136213.1			1/11																			HIGH	1	deletion	5	1		1										PASS		.	.												-	7	5	39	15690171	15690171	T	-	1	0	1	0	1	0	0	0	0	12381	1609	56	0		0	POTEH	22	15690171	Frame_Shift_Del	DEL	T	C3N-00175_TP	161271	15690171	35128297	1342	11492											
XKR3	0	.	GRCh38	chr22	16808021	16808021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactatttcttctttcgaaGatgaaactcctcctgtgctt	8	16	7	10	1	2	2	0	1	2	1	5	4	4	3	2	1	2	1	2	1	3	5	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.53C>T	p.Ser18Phe	p.S18F	ENST00000331428	2/4	86	73	13	99	99	0	strelka-varscan-mutect	XKR3,missense_variant,p.Ser18Phe,ENST00000331428,NM_001318251.1,NM_175878.3;	A	ENST00000331428	Transcript	missense_variant	156/1690	53/1380	18/459	S/F	tCt/tTt		1		-1	XKR3	HGNC	HGNC:28778	protein_coding	YES	CCDS42975.1	ENSP00000331704	Q5GH77		UPI000013EFAE	NM_001318251.1,NM_175878.3	deleterious(0.01)		2/4		hmmpanther:PTHR14297:SF7,hmmpanther:PTHR14297																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	16808021	16808021	G	A	1	0	0	0	0	1	0	0	0	17991	942	33	3		3	XKR3	22	16808021	Missense_Mutation	SNP	G	C3N-00175_TP	1117850	16808021	34010447	1343	11493											
IL17RA	0	.	GRCh38	chr22	17105869	17105869	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagactacatgcccctgtgGgtgtactggttcatcacggg	7	10	13	11	1	2	1	2	0	0	1	2	1	2	1	2	3	3	3	2	3	2	3	rs758399114		C3N-00175_TP	C3N-00175_NB	G	G																c.960G>A	p.Trp320Ter	p.W320*	ENST00000319363	11/13	552	468	84	611	611	0	strelka-varscan-mutect	IL17RA,stop_gained,p.Trp320Ter,ENST00000319363,NM_014339.6;IL17RA,intron_variant,,ENST00000612619,NM_001289905.1;	A	ENST00000319363	Transcript	stop_gained	1093/8607	960/2601	320/866	W/*	tgG/tgA	rs758399114	1		1	IL17RA	HGNC	HGNC:5985	protein_coding	YES	CCDS13739.1	ENSP00000320936	Q96F46		UPI000005031F	NM_014339.6			11/13		hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF13,Transmembrane_helices:TMhelix																	HIGH	1	SNV	1			1										PASS		rs758399114	.												A	4	1	39	17105869	17105869	G	A	1	0	0	0	0	0	1	0	0	7547	1241	43	3		3	IL17RA	22	17105869	Nonsense_Mutation	SNP	G	C3N-00175_TP	297848	17105869	33712599	1344	11494											
PI4KA	0	.	GRCh38	chr22	20752907	20752907	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggaaaatgagcttacttatCcaccagaccagatagatact	16	9	7	9	0	0	4	0	1	0	3	1	5	1	5	3	1	3	1	3	1	6	4	rs771454034		C3N-00175_TP	C3N-00175_NB	C	C																c.2983G>C	p.Asp995His	p.D995H	ENST00000255882	25/55	140	132	8	119	119	0	varscan-mutect	PI4KA,missense_variant,p.Asp995His,ENST00000255882,NM_058004.3;PI4KA,downstream_gene_variant,,ENST00000466162,;PI4KA,upstream_gene_variant,,ENST00000475414,;	G	ENST00000255882	Transcript	missense_variant	3070/6752	2983/6309	995/2102	D/H	Gat/Cat	rs771454034	1		-1	PI4KA	HGNC	HGNC:8983	protein_coding	YES	CCDS33603.2	ENSP00000255882	P42356	J3KN10	UPI0000E06BD6	NM_058004.3	deleterious(0)		25/55		hmmpanther:PTHR10048:SF58,hmmpanther:PTHR10048,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs771454034	.												G	3	3	39	20752907	20752907	C	G	1	0	0	0	0	1	0	0	0	11962	869	30	4		4	PI4KA	22	20752907	Missense_Mutation	SNP	C	C3N-00175_TP	3647038	20752907	30065561	1345	11495											
ZNF280A	0	.	GRCh38	chr22	22514048	22514048	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggaatctctagtgttcAtagccgtcttctttttagtt	6	19	8	8	1	5	0	1	0	4	0	6	1	5	1	1	1	1	2	1	1	4	8	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.1583T>C	p.Met528Thr	p.M528T	ENST00000302097	2/2	87	61	26	122	122	0	strelka-varscan-mutect	ZNF280A,missense_variant,p.Met528Thr,ENST00000302097,NM_080740.4;ZNF280B,upstream_gene_variant,,ENST00000626650,NM_080764.3;	G	ENST00000302097	Transcript	missense_variant	1836/2148	1583/1629	528/542	M/T	aTg/aCg		1		-1	ZNF280A	HGNC	HGNC:18597	protein_coding	YES	CCDS13800.1	ENSP00000302855	P59817		UPI000011B50C	NM_080740.4	tolerated(0.35)		2/2		hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF294																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	22514048	22514048	A	G	1	0	0	0	0	1	0	0	0	18390	217	8	5		5	ZNF280A	22	22514048	Missense_Mutation	SNP	A	C3N-00175_TP	1761141	22514048	28304420	1346	11496											
CABIN1	0	.	GRCh38	chr22	24072383	24072383	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcatggctgtgcaggaGgaggccaaggagccccacgt	9	5	16	11	1	0	0	0	0	0	0	0	3	0	3	3	5	4	4	3	5	1	0	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.2505G>A	p.=	p.E835E	ENST00000398319	18/37	332	240	92	418	418	0	strelka-varscan-mutect	CABIN1,synonymous_variant,p.=,ENST00000398319,NM_001199281.1;CABIN1,synonymous_variant,p.=,ENST00000263119,NM_012295.3;CABIN1,synonymous_variant,p.=,ENST00000617531,NM_001201429.1;CABIN1,synonymous_variant,p.=,ENST00000405822,;CABIN1,downstream_gene_variant,,ENST00000484593,;	A	ENST00000398319	Transcript	synonymous_variant	2890/7480	2505/6663	835/2220	E	gaG/gaA		1		1	CABIN1	HGNC	HGNC:24187	protein_coding	YES	CCDS13823.1	ENSP00000381364	Q9Y6J0	A0A024R1E5	UPI0000126D6C	NM_001199281.1			18/37		hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	24072383	24072383	G	A	1	0	0	0	0	0	0	0	1	2214	991	35	3		3	CABIN1	22	24072383	Silent	SNP	G	C3N-00175_TP	1558335	24072383	26746085	1347	11497											
CABIN1	0	.	GRCh38	chr22	24087652	24087652	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgtcctatgccttgcactCattcgcctcacgtcaattga	8	13	6	14	2	3	1	3	1	0	0	5	1	4	1	3	0	2	1	3	0	2	4			C3N-00175_TP	C3N-00175_NB	C	C																c.3464C>G	p.Ser1155Ter	p.S1155*	ENST00000398319	23/37	182	159	23	264	264	0	strelka-varscan-mutect	CABIN1,stop_gained,p.Ser1155Ter,ENST00000398319,NM_001199281.1;CABIN1,stop_gained,p.Ser1155Ter,ENST00000263119,NM_012295.3;CABIN1,stop_gained,p.Ser1105Ter,ENST00000617531,NM_001201429.1;CABIN1,stop_gained,p.Ser1105Ter,ENST00000405822,;CABIN1,non_coding_transcript_exon_variant,,ENST00000496016,;	G	ENST00000398319	Transcript	stop_gained	3849/7480	3464/6663	1155/2220	S/*	tCa/tGa	COSM726156	1		1	CABIN1	HGNC	HGNC:24187	protein_coding	YES	CCDS13823.1	ENSP00000381364	Q9Y6J0	A0A024R1E5	UPI0000126D6C	NM_001199281.1			23/37		Gene3D:1.25.40.10,hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7											1						HIGH	1	SNV	1		1	1										PASS		.	.												G	4	3	39	24087652	24087652	C	G	1	0	0	0	0	0	1	0	0	2214	838	29	4		4	CABIN1	22	24087652	Nonsense_Mutation	SNP	C	C3N-00175_TP	15269	24087652	26730816	1348	11498											
MYO18B	0	.	GRCh38	chr22	25902705	25902705	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacaccagtgtccggtGggagctaggccagcttcagc	9	6	15	11	1	1	1	1	0	0	1	2	3	2	2	3	4	4	2	3	4	2	2			C3N-00175_TP	C3N-00175_NB	G	G																c.4916G>A	p.Trp1639Ter	p.W1639*	ENST00000335473	30/44	126	89	37	170	170	0	strelka-varscan-mutect	MYO18B,stop_gained,p.Trp1639Ter,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,stop_gained,p.Trp1640Ter,ENST00000407587,;MYO18B,stop_gained,p.Trp1639Ter,ENST00000536101,;CTA-125H2.2,intron_variant,,ENST00000609889,;CTA-125H2.2,intron_variant,,ENST00000608257,;CTA-125H2.2,upstream_gene_variant,,ENST00000453457,;CTA-125H2.2,upstream_gene_variant,,ENST00000600211,;CTA-125H2.2,upstream_gene_variant,,ENST00000609275,;CTA-125H2.2,upstream_gene_variant,,ENST00000597284,;CTA-125H2.2,upstream_gene_variant,,ENST00000609157,;CTA-125H2.2,upstream_gene_variant,,ENST00000608507,;CTA-125H2.2,upstream_gene_variant,,ENST00000595093,;CTA-125H2.2,upstream_gene_variant,,ENST00000608115,;CTA-125H2.2,upstream_gene_variant,,ENST00000597548,;CTA-125H2.2,upstream_gene_variant,,ENST00000594585,;CTA-125H2.2,upstream_gene_variant,,ENST00000595102,;CTA-125H2.2,upstream_gene_variant,,ENST00000594856,;CTA-125H2.2,upstream_gene_variant,,ENST00000599080,;CTA-125H2.2,upstream_gene_variant,,ENST00000594542,;CTA-125H2.2,upstream_gene_variant,,ENST00000600269,;CTA-125H2.2,upstream_gene_variant,,ENST00000609570,;CTA-125H2.2,upstream_gene_variant,,ENST00000600903,;CTA-125H2.2,upstream_gene_variant,,ENST00000599792,;CTA-125H2.2,upstream_gene_variant,,ENST00000609823,;CTA-125H2.2,upstream_gene_variant,,ENST00000607895,;MYO18B,non_coding_transcript_exon_variant,,ENST00000536204,;MYO18B,non_coding_transcript_exon_variant,,ENST00000534908,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	A	ENST00000335473	Transcript	stop_gained	5166/8565	4916/7704	1639/2567	W/*	tGg/tAg	COSM4550091	1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5			30/44		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF372											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	39	25902705	25902705	G	A	1	0	0	0	0	0	1	0	0	10067	1357	47	3		3	MYO18B	22	25902705	Nonsense_Mutation	SNP	G	C3N-00175_TP	1815053	25902705	24915763	1349	11499											
RASL10A	0	.	GRCh38	chr22	29315208	29315208	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccgtcttgcccacgccCggggcgcctagaacggccac	6	5	13	17	5	1	1	0	0	1	1	1	1	1	1	5	4	2	0	5	4	2	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.39G>T	p.=	p.P13P	ENST00000216101	1/3	130	104	26	148	148	0	strelka-varscan-mutect	RASL10A,synonymous_variant,p.=,ENST00000401450,;RASL10A,synonymous_variant,p.=,ENST00000216101,NM_006477.4;GAS2L1,downstream_gene_variant,,ENST00000618518,;GAS2L1,downstream_gene_variant,,ENST00000616432,;GAS2L1,downstream_gene_variant,,ENST00000621062,NM_006478.4;GAS2L1,downstream_gene_variant,,ENST00000611648,NM_152236.2;GAS2L1,downstream_gene_variant,,ENST00000610653,;GAS2L1,downstream_gene_variant,,ENST00000406549,NM_001278730.1;AC002059.10,downstream_gene_variant,,ENST00000608014,;RASL10A,intron_variant,,ENST00000608559,;RASL10A,upstream_gene_variant,,ENST00000474590,;GAS2L1,downstream_gene_variant,,ENST00000491016,;	A	ENST00000216101	Transcript	synonymous_variant	549/1490	39/612	13/203	P	ccG/ccT		1		-1	RASL10A	HGNC	HGNC:16954	protein_coding	YES	CCDS13854.1	ENSP00000216101	Q92737	A0A024R1C8	UPI00001348FD	NM_006477.4			1/3		PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF65,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	29315208	29315208	C	A	1	0	0	0	0	0	0	0	1	13240	639	23	1		1	RASL10A	22	29315208	Silent	SNP	C	C3N-00175_TP	3412503	29315208	21503260	1350	11500											
RFPL1	0	.	GRCh38	chr22	29438961	29438961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtccctggagtgtggatGcgctgtctgcttcaagtgca	7	12	13	9	1	2	0	1	0	1	0	3	2	3	2	1	2	3	3	1	2	2	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.170G>T	p.Cys57Phe	p.C57F	ENST00000354373	1/2	218	151	67	338	337	1	strelka-varscan-mutect	RFPL1,missense_variant,p.Cys57Phe,ENST00000354373,NM_021026.2;RFPL1S,non_coding_transcript_exon_variant,,ENST00000461286,;RFPL4AP6,downstream_gene_variant,,ENST00000616792,;RFPL1S,downstream_gene_variant,,ENST00000539579,;AC000041.10,downstream_gene_variant,,ENST00000619824,;	T	ENST00000354373	Transcript	missense_variant	379/1496	170/954	57/317	C/F	tGc/tTc		1		1	RFPL1	HGNC	HGNC:9977	protein_coding	YES	CCDS13857.2	ENSP00000346342	O75677		UPI000013CC65	NM_021026.2	tolerated(0.33)		1/2		Gene3D:3.30.40.10,Pfam_domain:PF15227,PROSITE_profiles:PS50089,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF225,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	29438961	29438961	G	T	1	0	0	0	0	1	0	0	0	13424	1319	46	2		2	RFPL1	22	29438961	Missense_Mutation	SNP	G	C3N-00175_TP	123753	29438961	21379507	1351	11501											
CSF2RB	0	.	GRCh38	chr22	36938008	36938008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtctccctagttccctctCtgggcctcccctcagaccag	4	11	7	19	0	3	1	1	0	2	1	7	1	5	1	6	1	0	1	6	1	1	2	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2200C>G	p.Leu734Val	p.L734V	ENST00000403662	14/14	361	290	71	458	458	0	strelka-varscan-mutect	CSF2RB,missense_variant,p.Leu734Val,ENST00000403662,NM_000395.2;CSF2RB,missense_variant,p.Leu734Val,ENST00000262825,;CSF2RB,missense_variant,p.Leu740Val,ENST00000406230,;	G	ENST00000403662	Transcript	missense_variant	2422/4863	2200/2694	734/897	L/V	Ctg/Gtg		1		1	CSF2RB	HGNC	HGNC:2436	protein_coding	YES	CCDS13936.1	ENSP00000384053	P32927		UPI0000128C9F	NM_000395.2	tolerated(0.14)		14/14		Low_complexity_(Seg):seg,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF22,PIRSF_domain:PIRSF001956																	MODERATE	1	SNV	5			1										PASS		rs1406704383	.												G	3	3	39	36938008	36938008	C	G	1	0	0	0	0	1	0	0	0	3736	912	32	4		4	CSF2RB	22	36938008	Missense_Mutation	SNP	C	C3N-00175_TP	7499047	36938008	13880460	1352	11502											
CBX6	0	.	GRCh38	chr22	38871928	38871928	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccccttccatttcacCaggtactcgatgcgtccctg	6	10	7	18	2	1	0	1	0	0	0	4	1	3	0	6	1	2	1	6	1	1	3	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.87G>C	p.=	p.L29L	ENST00000407418	2/5	43	32	11	71	71	0	strelka-varscan-mutect	CBX6,synonymous_variant,p.=,ENST00000407418,NM_014292.4;CBX6,synonymous_variant,p.=,ENST00000216083,NM_001303494.1;CBX6,non_coding_transcript_exon_variant,,ENST00000469420,;	G	ENST00000407418	Transcript	synonymous_variant	211/6122	87/1239	29/412	L	ctG/ctC		1		-1	CBX6	HGNC	HGNC:1556	protein_coding	YES	CCDS13980.1	ENSP00000384490	O95503		UPI00001271FD	NM_014292.4			2/5		PROSITE_profiles:PS50013,hmmpanther:PTHR22812,hmmpanther:PTHR22812:SF8,PROSITE_patterns:PS00598,Pfam_domain:PF00385,Gene3D:2.40.50.40,SMART_domains:SM00298,Superfamily_domains:SSF54160,Prints_domain:PR00504																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	39	38871928	38871928	C	G	1	0	0	0	0	0	0	0	1	2422	581	21	4		4	CBX6	22	38871928	Silent	SNP	C	C3N-00175_TP	1933920	38871928	11946540	1353	11503											
NLGN4X	0	.	GRCh38	chrX	6151089	6151089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaaattggcggtaaaccaGatgggcagcatgtcatgcag	12	8	12	9	1	1	1	1	0	0	1	2	1	2	1	2	3	3	4	2	3	3	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.378C>T	p.=	p.I126I	ENST00000381095	2/6	221	138	83	263	262	1	strelka-varscan-mutect	NLGN4X,synonymous_variant,p.=,ENST00000381095,NM_181332.2,NM_001282145.1;NLGN4X,synonymous_variant,p.=,ENST00000381093,NM_001282146.1;NLGN4X,synonymous_variant,p.=,ENST00000275857,NM_020742.3;NLGN4X,synonymous_variant,p.=,ENST00000381092,;NLGN4X,synonymous_variant,p.=,ENST00000538097,;NLGN4X,non_coding_transcript_exon_variant,,ENST00000469740,;NLGN4X,downstream_gene_variant,,ENST00000483337,;	A	ENST00000381095	Transcript	synonymous_variant	1006/5870	378/2451	126/816	I	atC/atT		1		-1	NLGN4X	HGNC	HGNC:14287	protein_coding	YES	CCDS14126.1	ENSP00000370485	Q8N0W4	A0A024RBV0	UPI0000072EC5	NM_181332.2,NM_001282145.1			2/6		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF260,Superfamily_domains:SSF53474																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	6151089	6151089	G	A	1	0	0	0	0	0	0	0	1	10501	932	33	3		3	NLGN4X	23	6151089	Silent	SNP	G	C3N-00175_TP		6151089	149889806	1354	11504											
FAM9A	0	.	GRCh38	chrX	8795259	8795259	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcttcgtcttctactactAttacttctgctgctgctgct	4	18	5	14	1	4	0	0	0	4	0	5	0	4	0	1	0	7	4	1	0	4	7	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.650T>C	p.Ile217Thr	p.I217T	ENST00000543214	7/10	66	37	29	83	83	0	strelka-varscan-mutect	FAM9A,missense_variant,p.Ile217Thr,ENST00000543214,NM_001171186.1;FAM9A,missense_variant,p.Ile217Thr,ENST00000381003,NM_174951.3;	G	ENST00000543214	Transcript	missense_variant	786/1544	650/999	217/332	I/T	aTa/aCa		1		-1	FAM9A	HGNC	HGNC:18403	protein_coding	YES	CCDS14131.1	ENSP00000440163	Q8IZU1		UPI000012A418	NM_001171186.1	deleterious_low_confidence(0.01)		7/10		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	8795259	8795259	A	G	1	0	0	0	0	1	0	0	0	5517	449	16	5		5	FAM9A	23	8795259	Missense_Mutation	SNP	A	C3N-00175_TP	2644170	8795259	147245636	1355	11505											
TLR7	0	.	GRCh38	chrX	12888270	12888270	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactggaagacccaagagAgaaacattttaatttatgtc	17	10	7	7	0	0	3	0	0	0	3	1	5	0	4	1	1	2	0	1	1	6	4	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2762A>G	p.Glu921Gly	p.E921G	ENST00000380659	3/3	64	38	26	74	74	0	strelka-varscan-mutect	TLR7,missense_variant,p.Glu921Gly,ENST00000380659,NM_016562.3;	G	ENST00000380659	Transcript	missense_variant	2901/5011	2762/3150	921/1049	E/G	gAg/gGg		1		1	TLR7	HGNC	HGNC:15631	protein_coding	YES	CCDS14151.1	ENSP00000370034	Q9NYK1	B2R9N9	UPI000004BAF6	NM_016562.3	tolerated(0.13)		3/3		Gene3D:3.40.50.10140,Pfam_domain:PF01582,PROSITE_profiles:PS50104,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF222,SMART_domains:SM00255,Superfamily_domains:SSF52200																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	12888270	12888270	A	G	1	0	0	0	0	1	0	0	0	16402	304	11	5		5	TLR7	23	12888270	Missense_Mutation	SNP	A	C3N-00175_TP	4093011	12888270	143152625	1356	11506											
BMX	0	.	GRCh38	chrX	15556088	15556088	+	Frame_Shift_Del	DEL	C	C	-																															tttagcttccagaaaagcgtCccacatttcagcaactcctg																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.1971delC	p.Thr658HisfsTer50	p.T658Hfs*50	ENST00000357607	19/19	76	55	21	90	90	0	sindel-varindel-pindel	BMX,frameshift_variant,p.Thr658HisfsTer50,ENST00000357607,;BMX,frameshift_variant,p.Thr658HisfsTer50,ENST00000348343,NM_001320866.1,NM_203281.2;BMX,frameshift_variant,p.Thr658HisfsTer50,ENST00000342014,NM_001721.6;ACE2,downstream_gene_variant,,ENST00000427411,NM_021804.2;ACE2,downstream_gene_variant,,ENST00000252519,;ACE2,downstream_gene_variant,,ENST00000471548,;	-	ENST00000357607	Transcript	frameshift_variant	2157/2598	1969/2028	657/675	P/X	Ccc/cc		1		1	BMX	HGNC	HGNC:1079	protein_coding	YES	CCDS14168.1	ENSP00000350224	P51813		UPI0000000DFF				19/19		Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF91,SMART_domains:SM00219,Superfamily_domains:SSF56112																	HIGH		deletion	2	2		1										PASS		.	.												-	7	5	39	15556088	15556088	C	-	1	0	1	0	1	0	0	0	0	1629	855	30	0		0	BMX	23	15556088	Frame_Shift_Del	DEL	C	C3N-00175_TP	2667818	15556088	140484807	1357	11507											
CDKL5	0	.	GRCh38	chrX	18579893	18579893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaaatggagttccacctGagaaagtaaaaagctacatc	16	8	8	9	0	0	1	0	1	0	1	2	3	1	2	3	1	3	3	3	1	6	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.328G>A	p.Glu110Lys	p.E110K	ENST00000379989	7/22	128	119	9	165	164	1	strelka-varscan-mutect	CDKL5,missense_variant,p.Glu110Lys,ENST00000623535,;CDKL5,missense_variant,p.Glu110Lys,ENST00000635828,;CDKL5,missense_variant,p.Glu110Lys,ENST00000379989,NM_001037343.1;CDKL5,missense_variant,p.Glu110Lys,ENST00000379996,NM_003159.2;CDKL5,missense_variant,p.Glu110Lys,ENST00000463994,;CDKL5,missense_variant,p.Glu110Lys,ENST00000637881,;CDKL5,downstream_gene_variant,,ENST00000624700,;CDKL5,downstream_gene_variant,,ENST00000623364,;	A	ENST00000379989	Transcript	missense_variant	613/3463	328/3093	110/1030	E/K	Gag/Aag		1		1	CDKL5	HGNC	HGNC:11411	protein_coding	YES	CCDS14186.1	ENSP00000369325	O76039		UPI0000136103	NM_001037343.1	deleterious_low_confidence(0.03)		7/22		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF111,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	18579893	18579893	G	A	1	0	0	0	0	1	0	0	0	2861	1291	45	3		3	CDKL5	23	18579893	Missense_Mutation	SNP	G	C3N-00175_TP	3023805	18579893	137461002	1358	11508											
ZNF645	0	.	GRCh38	chrX	22273432	22273432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcgaaaacaagttaccagCgcttcgcttgaaaaagttcg	13	9	9	10	4	0	1	0	1	0	0	3	2	0	1	1	0	3	5	1	0	6	4	rs749058196		C3N-00175_TP	C3N-00175_NB	C	C																c.441C>A	p.Ser147Arg	p.S147R	ENST00000323684	1/1	70	42	28	76	76	0	strelka-varscan-mutect	ZNF645,missense_variant,p.Ser147Arg,ENST00000323684,NM_152577.3;PTCHD1-AS,intron_variant,,ENST00000608254,;	A	ENST00000323684	Transcript	missense_variant	490/1519	441/1278	147/425	S/R	agC/agA	rs749058196,COSM756517	1		1	ZNF645	HGNC	HGNC:26371	protein_coding	YES	CCDS14205.1	ENSP00000323348	Q8N7E2		UPI0000073BD5	NM_152577.3	tolerated(0.11)		1/1		hmmpanther:PTHR13480,hmmpanther:PTHR13480:SF1											0,1						MODERATE	1	SNV			0,1	1										PASS		rs749058196	.												A	3	1	39	22273432	22273432	C	A	1	0	0	0	0	1	0	0	0	18634	767	27	1		1	ZNF645	23	22273432	Missense_Mutation	SNP	C	C3N-00175_TP	3693539	22273432	133767463	1359	11509											
POLA1	0	.	GRCh38	chrX	24723243	24723243	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaaaatatcgagcgaacGctttacttccttccccgtga	11	11	8	11	4	0	2	0	2	0	0	3	4	2	2	3	0	3	1	3	0	5	5			C3N-00175_TP	C3N-00175_NB	G	G																c.1158G>A	p.=	p.T386T	ENST00000379059	11/37	96	60	36	102	102	0	strelka-varscan-mutect	POLA1,synonymous_variant,p.=,ENST00000379068,;POLA1,synonymous_variant,p.=,ENST00000379059,NM_016937.3;POLA1,synonymous_variant,p.=,ENST00000611764,;POLA1,upstream_gene_variant,,ENST00000493342,;	A	ENST00000379059	Transcript	synonymous_variant	1173/5440	1158/4389	386/1462	T	acG/acA	COSM4933508,COSM4933509	1		1	POLA1	HGNC	HGNC:9173	protein_coding	YES	CCDS14214.1	ENSP00000368349	P09884		UPI000014D383	NM_016937.3			11/37		hmmpanther:PTHR10322:SF21,hmmpanther:PTHR10322,TIGRFAM_domain:TIGR00592,Pfam_domain:PF03104											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	39	24723243	24723243	G	A	1	0	0	0	0	0	0	0	1	12297	1074	38	1		1	POLA1	23	24723243	Silent	SNP	G	C3N-00175_TP	2449811	24723243	131317652	1360	11510											
NR0B1	0	.	GRCh38	chrX	30304812	30304812	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtacttcacgcactgcaGgcccggcacgtctggaggga	9	7	13	12	3	2	0	1	0	1	0	2	2	2	2	1	4	2	4	1	4	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.1180C>G	p.Leu394Val	p.L394V	ENST00000378970	2/2	124	69	55	164	164	0	strelka-varscan-mutect	NR0B1,missense_variant,p.Leu394Val,ENST00000378970,NM_000475.4;NR0B1,downstream_gene_variant,,ENST00000378963,;	C	ENST00000378970	Transcript	missense_variant	1415/2021	1180/1413	394/470	L/V	Ctg/Gtg		1		-1	NR0B1	HGNC	HGNC:7960	protein_coding	YES	CCDS14223.1	ENSP00000368253	P51843	F1D8P4	UPI0000128ED4	NM_000475.4	deleterious(0.01)		2/2		hmmpanther:PTHR24081:SF1,hmmpanther:PTHR24081,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	39	30304812	30304812	G	C	1	0	0	0	0	1	0	0	0	10669	991	35	4		4	NR0B1	23	30304812	Missense_Mutation	SNP	G	C3N-00175_TP	5581569	30304812	125736083	1361	11511											
DMD	0	.	GRCh38	chrX	31658100	31658100	+	Silent	SNP	C	C	A																															ttcagggccaagtcatttgcCacatctacatttgtctgcca																								rs368521550		C3N-00175_TP	C3N-00175_NB	C	C																c.7917G>T	p.=	p.V2639V	ENST00000357033	54/79	186	110	76	196	196	0	strelka-varscan-mutect	DMD,synonymous_variant,p.=,ENST00000357033,NM_000109.3,NM_004006.2;DMD,synonymous_variant,p.=,ENST00000378677,NM_004010.3,NM_004009.3;DMD,synonymous_variant,p.=,ENST00000620040,;DMD,synonymous_variant,p.=,ENST00000619831,;DMD,synonymous_variant,p.=,ENST00000378707,NM_004013.2;DMD,synonymous_variant,p.=,ENST00000359836,NM_004022.2;DMD,synonymous_variant,p.=,ENST00000541735,NM_004020.3,NM_004023.2;DMD,synonymous_variant,p.=,ENST00000358062,;DMD,synonymous_variant,p.=,ENST00000474231,NM_004021.2;	A	ENST00000357033	Transcript	synonymous_variant	8124/13956	7917/11058	2639/3685	V	gtG/gtT	rs368521550	1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2			54/79		Pfam_domain:PF00435,PIRSF_domain:PIRSF002341,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	LOW	1	SNV	1			1										PASS		rs368521550	.												A	2	1	39	31658100	31658100	C	A	1	0	0	0	0	0	0	0	1	4387	581	21	2		2	DMD	23	31658100	Silent	SNP	C	C3N-00175_TP	1353288	31658100	124382795	1362	11512	262	2									
DMD	0	.	GRCh38	chrX	31658102	31658102	+	Missense_Mutation	SNP	C	C	A																															cagggccaagtcatttgccaCatctacatttgtctgccact																								novel		C3N-00175_TP	C3N-00175_NB	C	C																c.7915G>T	p.Val2639Leu	p.V2639L	ENST00000357033	54/79	188	111	77	199	199	0	strelka-varscan-mutect	DMD,missense_variant,p.Val2639Leu,ENST00000357033,NM_000109.3,NM_004006.2;DMD,missense_variant,p.Val2635Leu,ENST00000378677,NM_004010.3,NM_004009.3;DMD,missense_variant,p.Val2638Leu,ENST00000620040,;DMD,missense_variant,p.Val2634Leu,ENST00000619831,;DMD,missense_variant,p.Val179Leu,ENST00000378707,NM_004013.2;DMD,missense_variant,p.Val179Leu,ENST00000359836,NM_004022.2;DMD,missense_variant,p.Val179Leu,ENST00000541735,NM_004020.3,NM_004023.2;DMD,missense_variant,p.Val335Leu,ENST00000358062,;DMD,missense_variant,p.Val179Leu,ENST00000474231,NM_004021.2;	A	ENST00000357033	Transcript	missense_variant	8122/13956	7915/11058	2639/3685	V/L	Gtg/Ttg		1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2	deleterious(0.03)		54/79		Pfam_domain:PF00435,PIRSF_domain:PIRSF002341,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	31658102	31658102	C	A	1	0	0	0	0	1	0	0	0	4387	478	17	2		2	DMD	23	31658102	Missense_Mutation	SNP	C	C3N-00175_TP	2	31658102	124382793	1363	11513	262	2									
FAM47A	0	.	GRCh38	chrX	34131894	34131894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtacatggccaagggatGcttggccattagctgggctt	7	10	16	8	0	0	0	0	0	0	0	0	1	0	1	2	6	3	4	2	6	3	4			C3N-00175_TP	C3N-00175_NB	G	G																c.385C>A	p.His129Asn	p.H129N	ENST00000346193	1/1	58	34	24	51	51	0	strelka-varscan-mutect	FAM47A,missense_variant,p.His129Asn,ENST00000346193,NM_203408.3;FAM47A,missense_variant,p.His129Asn,ENST00000613251,;	T	ENST00000346193	Transcript	missense_variant	418/2556	385/2376	129/791	H/N	Cat/Aat	COSM3965179	1		-1	FAM47A	HGNC	HGNC:29962	protein_coding	YES	CCDS43926.1	ENSP00000345029	Q5JRC9		UPI000013F1F4	NM_203408.3	deleterious(0.05)		1/1		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF200,Pfam_domain:PF14642											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	39	34131894	34131894	G	T	1	0	0	0	0	1	0	0	0	5447	1319	46	2		2	FAM47A	23	34131894	Missense_Mutation	SNP	G	C3N-00175_TP	2473792	34131894	121909001	1364	11514											
FAM47B	0	.	GRCh38	chrX	34942919	34942919	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaaccgccttccaagtacTtcgcgaagcgcaagcacagg	13	5	9	14	4	0	0	0	0	0	0	2	1	1	0	3	1	4	3	3	1	5	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.88T>A	p.Phe30Ile	p.F30I	ENST00000329357	1/1	86	58	28	105	105	0	strelka-varscan-mutect	FAM47B,missense_variant,p.Phe30Ile,ENST00000329357,NM_152631.2;	A	ENST00000329357	Transcript	missense_variant	124/2120	88/1938	30/645	F/I	Ttc/Atc		1		1	FAM47B	HGNC	HGNC:26659	protein_coding	YES	CCDS14236.1	ENSP00000328307	Q8NA70		UPI000013F47B	NM_152631.2	tolerated(0.17)		1/1		Pfam_domain:PF14642,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF192																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	39	34942919	34942919	T	A	1	0	0	0	0	1	0	0	0	5448	1609	56	4		4	FAM47B	23	34942919	Missense_Mutation	SNP	T	C3N-00175_TP	811025	34942919	121097976	1365	11515											
CFAP47	0	.	GRCh38	chrX	35975886	35975886	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtaaacacaggaagagggAtagcattttctatttgtcca	13	11	9	8	1	1	1	0	0	1	1	2	3	2	3	2	2	2	2	2	2	5	6	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.2686A>T	p.Ile896Leu	p.I896L	ENST00000297866	15/16	94	65	29	134	134	0	strelka-varscan-mutect	CFAP47,missense_variant,p.Ile896Leu,ENST00000378653,NM_001304548.1;CFAP47,missense_variant,p.Ile896Leu,ENST00000297866,NM_152632.3;CFAP47,3_prime_UTR_variant,,ENST00000493930,;	T	ENST00000297866	Transcript	missense_variant	2752/3608	2686/2931	896/976	I/L	Ata/Tta		1		1	CFAP47	HGNC	HGNC:26708	protein_coding	YES	CCDS14237.2	ENSP00000297866	Q6ZTR5		UPI000022DD27	NM_152632.3	deleterious(0.04)		15/16		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF24																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	39	35975886	35975886	A	T	1	0	0	0	0	1	0	0	0	3022	333	12	4		4	CFAP47	23	35975886	Missense_Mutation	SNP	A	C3N-00175_TP	1032967	35975886	120065009	1366	11516											
FAM47C	0	.	GRCh38	chrX	37008983	37008983	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattctcccctcggcctccCgagactcgggtgtcctgtct	4	11	10	16	3	2	1	0	0	2	1	7	3	4	1	5	2	0	0	5	2	1	1	rs782508474		C3N-00175_TP	C3N-00175_NB	C	C																c.573C>A	p.=	p.P191P	ENST00000358047	1/1	94	47	47	98	98	0	strelka-varscan-mutect	FAM47C,synonymous_variant,p.=,ENST00000358047,NM_001013736.2;	A	ENST00000358047	Transcript	synonymous_variant	587/3270	573/3108	191/1035	P	ccC/ccA	rs782508474	1		1	FAM47C	HGNC	HGNC:25301	protein_coding	YES	CCDS35227.1	ENSP00000367913	Q5HY64		UPI000041ABF8	NM_001013736.2			1/1		hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642																	LOW	1	SNV				1										PASS		rs782508474	.												A	2	1	39	37008983	37008983	C	A	1	0	0	0	0	0	0	0	1	5449	639	23	1		1	FAM47C	23	37008983	Silent	SNP	C	C3N-00175_TP	1033097	37008983	119031912	1367	11517											
PPP1R3F	0	.	GRCh38	chrX	49287044	49287044	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggctctgaacagcggtgtgtCcctcctggtgcttgcgctgt	3	12	14	12	2	1	1	0	1	1	0	3	1	3	1	2	3	4	3	2	3	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2354C>G	p.Ser785Cys	p.S785C	ENST00000055335	4/4	117	98	19	124	124	0	strelka-varscan-mutect	PPP1R3F,missense_variant,p.Ser785Cys,ENST00000055335,NM_033215.4;PPP1R3F,missense_variant,p.Ser439Cys,ENST00000376188,;PPP1R3F,missense_variant,p.Ser439Cys,ENST00000466508,;PPP1R3F,missense_variant,p.Ser439Cys,ENST00000495799,NM_001184745.1;PPP1R3F,intron_variant,,ENST00000471261,;	G	ENST00000055335	Transcript	missense_variant	2370/3421	2354/2400	785/799	S/C	tCc/tGc		1		1	PPP1R3F	HGNC	HGNC:14944	protein_coding	YES	CCDS35254.1	ENSP00000055335	Q6ZSY5		UPI00001D7BA8	NM_033215.4	deleterious_low_confidence(0)		4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR12307:SF5,hmmpanther:PTHR12307,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	39	49287044	49287044	C	G	1	0	0	0	0	1	0	0	0	12496	855	30	4		4	PPP1R3F	23	49287044	Missense_Mutation	SNP	C	C3N-00175_TP	12278061	49287044	106753851	1368	11518											
SHROOM4	0	.	GRCh38	chrX	50607620	50607620	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctaggacctcctcaggattGagagcacaggaaccagaggt	12	7	12	10	0	2	2	1	1	1	2	3	6	3	5	3	4	2	1	3	4	2	2	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.3522C>T	p.=	p.L1174L	ENST00000376020	6/9	147	92	55	133	133	0	strelka-varscan-mutect	SHROOM4,synonymous_variant,p.=,ENST00000376020,NM_020717.3;SHROOM4,synonymous_variant,p.=,ENST00000460112,;SHROOM4,synonymous_variant,p.=,ENST00000289292,;	A	ENST00000376020	Transcript	synonymous_variant	3548/9556	3522/4482	1174/1493	L	ctC/ctT		1		-1	SHROOM4	HGNC	HGNC:29215	protein_coding	YES	CCDS35277.1	ENSP00000365188	Q9ULL8		UPI00001C2068	NM_020717.3			6/9		hmmpanther:PTHR15012:SF35,hmmpanther:PTHR15012																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	39	50607620	50607620	G	A	1	0	0	0	0	0	0	0	1	14559	1277	45	3		3	SHROOM4	23	50607620	Silent	SNP	G	C3N-00175_TP	1320576	50607620	105433275	1369	11519											
ALAS2	0	.	GRCh38	chrX	55013545	55013545	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgccaagcgcaggagcTcttcaccccgggggacagtt	8	6	15	12	2	2	0	1	0	1	0	2	2	2	2	3	4	3	3	3	4	1	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1541A>C	p.Glu514Ala	p.E514A	ENST00000330807	10/11	70	50	20	78	78	0	strelka-varscan-mutect	ALAS2,missense_variant,p.Glu514Ala,ENST00000330807,NM_000032.4;ALAS2,missense_variant,p.Glu501Ala,ENST00000396198,NM_001037968.3;ALAS2,missense_variant,p.Glu477Ala,ENST00000335854,NM_001037967.3;APEX2,downstream_gene_variant,,ENST00000374987,NM_014481.3;ALAS2,intron_variant,,ENST00000498636,;ALAS2,downstream_gene_variant,,ENST00000463868,;ALAS2,downstream_gene_variant,,ENST00000477869,;	G	ENST00000330807	Transcript	missense_variant	1679/2027	1541/1764	514/587	E/A	gAg/gCg		1		-1	ALAS2	HGNC	HGNC:397	protein_coding	YES	CCDS14366.1	ENSP00000332369	P22557		UPI000012C3FE	NM_000032.4	deleterious(0)		10/11		hmmpanther:PTHR13693:SF58,hmmpanther:PTHR13693,Gene3D:3.90.1150.10,TIGRFAM_domain:TIGR01821,Pfam_domain:PF00155,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	39	55013545	55013545	T	G	1	0	0	0	0	1	0	0	0	585	1551	54	5		5	ALAS2	23	55013545	Missense_Mutation	SNP	T	C3N-00175_TP	4405925	55013545	101027350	1370	11520											
HEPH	0	.	GRCh38	chrX	66172566	66172566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgtccctataccatccacCctcatggtgtcttctacgag	7	12	6	16	2	3	0	1	0	2	0	6	1	5	0	4	1	2	0	4	1	3	4			C3N-00175_TP	C3N-00175_NB	C	C																c.541C>A	p.Pro181Thr	p.P181T	ENST00000519389	3/21	30	17	13	37	37	0	strelka-varscan-mutect	HEPH,missense_variant,p.Pro181Thr,ENST00000519389,NM_138737.4;HEPH,missense_variant,p.Pro127Thr,ENST00000343002,;HEPH,missense_variant,p.Pro130Thr,ENST00000441993,NM_001130860.3;HEPH,missense_variant,p.Pro130Thr,ENST00000419594,NM_001282141.1;HEPH,missense_variant,p.Pro127Thr,ENST00000425114,;HEPH,missense_variant,p.Pro127Thr,ENST00000458621,;HEPH,5_prime_UTR_variant,,ENST00000336279,NM_014799.3;HEPH,downstream_gene_variant,,ENST00000429547,;	A	ENST00000519389	Transcript	missense_variant	720/6013	541/3639	181/1212	P/T	Cct/Act	COSM3562777,COSM3562778	1		1	HEPH	HGNC	HGNC:4866	protein_coding	YES	CCDS14384.3	ENSP00000430620	Q9BQS7		UPI0001C06560	NM_138737.4	deleterious(0.02)		3/21		hmmpanther:PTHR10127:SF622,hmmpanther:PTHR10127,Gene3D:2.60.40.420,Pfam_domain:PF07732,Superfamily_domains:SSF49503											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1188793883	.												A	3	1	39	66172566	66172566	C	A	1	0	0	0	0	1	0	0	0	6938	623	22	2		2	HEPH	23	66172566	Missense_Mutation	SNP	C	C3N-00175_TP	11159021	66172566	89868329	1371	11521											
TBX22	0	.	GRCh38	chrX	80022314	80022314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttctccgtggaagccttGgtggggagacccagcaaaag	9	7	14	11	1	1	1	0	0	1	1	2	3	1	2	4	4	2	1	4	4	3	2	rs367771247		C3N-00175_TP	C3N-00175_NB	G	G																c.45G>T	p.Leu15Phe	p.L15F	ENST00000373296	2/9	212	123	89	212	212	0	strelka-varscan-mutect	TBX22,missense_variant,p.Leu15Phe,ENST00000373296,NM_001109878.1,NM_001109879.1;TBX22,missense_variant,p.Leu15Phe,ENST00000373294,NM_016954.2,NM_001303475.1;TBX22,upstream_gene_variant,,ENST00000626877,;TBX22,missense_variant,p.Leu15Phe,ENST00000626498,;TBX22,non_coding_transcript_exon_variant,,ENST00000476373,;	T	ENST00000373296	Transcript	missense_variant	179/2355	45/1563	15/520	L/F	ttG/ttT	rs367771247	1		1	TBX22	HGNC	HGNC:11600	protein_coding	YES	CCDS14445.1	ENSP00000362393	Q9Y458		UPI00001377ED	NM_001109878.1,NM_001109879.1	deleterious(0)		2/9		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF116																	MODERATE	1	SNV	5			1										PASS		rs367771247	.												T	3	4	39	80022314	80022314	G	T	1	0	0	0	0	1	0	0	0	16063	1339	47	2		2	TBX22	23	80022314	Missense_Mutation	SNP	G	C3N-00175_TP	13849748	80022314	76018581	1372	11522											
TBX22	0	.	GRCh38	chrX	80023141	80023141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacggcaacagctctgaaaGtctggaagagaaagatattc	15	8	10	8	1	2	3	0	1	2	2	3	5	2	4	0	2	3	2	0	2	6	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.257G>T	p.Ser86Ile	p.S86I	ENST00000373296	3/9	151	83	68	153	153	0	strelka-varscan-mutect	TBX22,missense_variant,p.Ser86Ile,ENST00000373296,NM_001109878.1,NM_001109879.1;TBX22,missense_variant,p.Ser86Ile,ENST00000373294,NM_016954.2,NM_001303475.1;TBX22,non_coding_transcript_exon_variant,,ENST00000626877,;TBX22,missense_variant,p.Ser86Ile,ENST00000626498,;TBX22,downstream_gene_variant,,ENST00000476373,;	T	ENST00000373296	Transcript	missense_variant	391/2355	257/1563	86/520	S/I	aGt/aTt		1		1	TBX22	HGNC	HGNC:11600	protein_coding	YES	CCDS14445.1	ENSP00000362393	Q9Y458		UPI00001377ED	NM_001109878.1,NM_001109879.1	deleterious(0.04)		3/9		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF116																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	39	80023141	80023141	G	T	1	0	0	0	0	1	0	0	0	16063	1029	36	2		2	TBX22	23	80023141	Missense_Mutation	SNP	G	C3N-00175_TP	827	80023141	76017754	1373	11523											
TGIF2LX	0	.	GRCh38	chrX	89922582	89922582	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccttgccaaagggccAgatgtcaagagagaagcaac	13	5	13	10	0	1	3	1	0	0	3	1	4	1	3	3	2	3	1	3	2	4	1	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.497A>T	p.Gln166Leu	p.Q166L	ENST00000561129	1/1	263	154	109	267	266	1	strelka-varscan-mutect	TGIF2LX,missense_variant,p.Gln166Leu,ENST00000561129,;TGIF2LX,missense_variant,p.Gln166Leu,ENST00000283891,NM_138960.3;	T	ENST00000561129	Transcript	missense_variant	627/928	497/726	166/241	Q/L	cAg/cTg		1		1	TGIF2LX	HGNC	HGNC:18570	protein_coding	YES	CCDS14459.1	ENSP00000453704	Q8IUE1		UPI0000074793		tolerated(0.07)		1/1		hmmpanther:PTHR11850:SF16,hmmpanther:PTHR11850																	MODERATE	1	SNV				1										PASS		rs1447352316	.												T	3	4	39	89922582	89922582	A	T	1	0	0	0	0	1	0	0	0	16260	188	7	4		4	TGIF2LX	23	89922582	Missense_Mutation	SNP	A	C3N-00175_TP	9899441	89922582	66118313	1374	11524											
PABPC5	0	.	GRCh38	chrX	91436133	91436133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattcaaattcccagaagagCgggcggctgaggtcagaacc	12	6	13	10	2	2	4	2	1	0	3	3	5	3	4	2	3	2	1	2	3	3	2			C3N-00175_TP	C3N-00175_NB	C	C																c.556C>T	p.Arg186Trp	p.R186W	ENST00000312600	2/2	140	115	25	200	200	0	strelka-varscan-mutect	PABPC5,missense_variant,p.Arg186Trp,ENST00000312600,NM_080832.2;PABPC5,missense_variant,p.Arg22Trp,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;	T	ENST00000312600	Transcript	missense_variant	770/3221	556/1149	186/382	R/W	Cgg/Tgg	COSM1126344	1		1	PABPC5	HGNC	HGNC:13629	protein_coding	YES	CCDS14460.1	ENSP00000308012	Q96DU9		UPI0000087790	NM_080832.2	deleterious(0)		2/2		Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01628											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	39	91436133	91436133	C	T	1	0	0	0	0	1	0	0	0	11445	759	27	1		1	PABPC5	23	91436133	Missense_Mutation	SNP	C	C3N-00175_TP	1513551	91436133	64604762	1375	11525											
BEX4	0	.	GRCh38	chrX	103216193	103216193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcggcaaacaatctcaacGgggaaaatgcccaacaagaa	18	4	9	10	2	1	1	1	0	1	1	2	2	1	2	1	3	5	1	1	3	9	1	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.40G>T	p.Gly14Trp	p.G14W	ENST00000372695	3/3	19	4	15	12	12	0	strelka-varscan-mutect	BEX4,missense_variant,p.Gly14Trp,ENST00000372695,NM_001080425.3;BEX4,missense_variant,p.Gly14Trp,ENST00000372691,NM_001127688.2;	T	ENST00000372695	Transcript	missense_variant	275/1328	40/363	14/120	G/W	Ggg/Tgg		1		1	BEX4	HGNC	HGNC:25475	protein_coding	YES	CCDS35355.1	ENSP00000361780	Q9NWD9		UPI0000038D5E	NM_001080425.3	deleterious(0.01)		3/3		Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF008633,hmmpanther:PTHR13987,hmmpanther:PTHR13987:SF3,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	39	103216193	103216193	G	T	1	0	0	0	0	1	0	0	0	1560	1116	39	1		1	BEX4	23	103216193	Missense_Mutation	SNP	G	C3N-00175_TP	11780060	103216193	52824702	1376	11526											
BEX2	0	.	GRCh38	chrX	103310415	103310415	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgaggtgcgtcgccgcAacacttggccccgcaaacct	8	6	12	15	5	0	1	0	1	0	0	1	2	0	1	4	2	3	2	4	2	2	1	rs3184865		C3N-00175_TP	C3N-00175_NB	A	A																c.34T>G	p.Cys12Gly	p.C12G	ENST00000536889	2/3	111	62	49	145	145	0	strelka-varscan-mutect	BEX2,missense_variant,p.Cys12Gly,ENST00000536889,NM_001168400.1,NM_001168399.1;BEX2,5_prime_UTR_variant,,ENST00000372677,NM_032621.3;BEX2,5_prime_UTR_variant,,ENST00000449185,;BEX2,5_prime_UTR_variant,,ENST00000372674,NM_001168401.1;	C	ENST00000536889	Transcript	missense_variant	392/1077	34/483	12/160	C/G	Tgc/Ggc	rs3184865	1		-1	BEX2	HGNC	HGNC:30933	protein_coding	YES	CCDS55467.1	ENSP00000442521	Q9BXY8		UPI0000D4D907	NM_001168400.1,NM_001168399.1	tolerated_low_confidence(0.54)		2/3																			MODERATE	1	SNV	2			1										PASS		rs3184865	.												C	3	2	39	103310415	103310415	A	C	1	0	0	0	0	1	0	0	0	1559	130	5	5		5	BEX2	23	103310415	Missense_Mutation	SNP	A	C3N-00175_TP	94222	103310415	52730480	1377	11527											
H2BFWT	0	.	GRCh38	chrX	104013640	104013640	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgtggaccggggaagccgGggcacttcggtacgcagcat	7	7	17	10	4	0	0	0	0	0	0	1	2	0	2	2	6	3	5	2	6	2	3	novel		C3N-00175_TP	C3N-00175_NB	G	G																c.21C>A	p.=	p.P7P	ENST00000217926	1/3	51	34	17	65	65	0	strelka-varscan-mutect	H2BFWT,synonymous_variant,p.=,ENST00000217926,NM_001002916.4;H2BFWT,synonymous_variant,p.=,ENST00000611083,;	T	ENST00000217926	Transcript	synonymous_variant	48/894	21/528	7/175	P	ccC/ccA		1		-1	H2BFWT	HGNC	HGNC:27252	protein_coding	YES	CCDS35362.1	ENSP00000354723	Q7Z2G1		UPI000019B16C	NM_001002916.4			1/3																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	39	104013640	104013640	G	T	1	0	0	0	0	0	0	0	1	6814	1219	43	2		2	H2BFWT	23	104013640	Silent	SNP	G	C3N-00175_TP	703225	104013640	52027255	1378	11528											
ACSL4	0	.	GRCh38	chrX	109659506	109659506	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaactgatcacataggacTgatcactaaaaaaacagaaa	22	6	5	8	0	2	3	2	2	0	1	2	4	2	4	0	1	2	0	0	1	8	2	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.1826A>T	p.Gln609Leu	p.Q609L	ENST00000340800	16/17	88	54	34	104	104	0	strelka-mutect	ACSL4,missense_variant,p.Gln609Leu,ENST00000340800,NM_001318509.1,NM_022977.2;ACSL4,missense_variant,p.Gln609Leu,ENST00000469796,;ACSL4,missense_variant,p.Gln568Leu,ENST00000348502,NM_001318510.1,NM_004458.2;ACSL4,non_coding_transcript_exon_variant,,ENST00000505075,;ACSL4,intron_variant,,ENST00000514500,;	A	ENST00000340800	Transcript	missense_variant	2331/5333	1826/2136	609/711	Q/L	cAg/cTg		1		-1	ACSL4	HGNC	HGNC:3571	protein_coding	YES	CCDS14548.1	ENSP00000339787	O60488		UPI000012E293	NM_001318509.1,NM_022977.2	deleterious(0.02)		16/17		Gene3D:3.30.300.30,hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF241,Superfamily_domains:SSF56801																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	39	109659506	109659506	T	A	1	0	0	0	0	1	0	0	0	221	1594	55	4		4	ACSL4	23	109659506	Missense_Mutation	SNP	T	C3N-00175_TP	5645866	109659506	46381389	1379	11529											
KIAA1210	0	.	GRCh38	chrX	119088110	119088110	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacataagtgccttcctcAacagctgtgctttctgagat	9	13	7	12	0	2	1	1	1	1	1	4	2	4	1	3	0	4	2	3	0	2	3	novel		C3N-00175_TP	C3N-00175_NB	A	A																c.3120T>G	p.=	p.V1040V	ENST00000402510	11/14	125	82	43	130	130	0	strelka-varscan-mutect	KIAA1210,synonymous_variant,p.=,ENST00000402510,NM_020721.1;	C	ENST00000402510	Transcript	synonymous_variant	3120/7824	3120/5130	1040/1709	V	gtT/gtG		1		-1	KIAA1210	HGNC	HGNC:29218	protein_coding	YES	CCDS48156.1	ENSP00000384670	Q9ULL0		UPI0001596C4C	NM_020721.1			11/14		hmmpanther:PTHR22118:SF15,hmmpanther:PTHR22118																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	39	119088110	119088110	A	C	1	0	0	0	0	0	0	0	1	8106	117	5	5		5	KIAA1210	23	119088110	Silent	SNP	A	C3N-00175_TP	9428604	119088110	36952785	1380	11530											
USP26	0	.	GRCh38	chrX	133027191	133027191	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttaaaaaaaagtagccGtgccaagcacatggtaagag	17	8	9	7	1	1	1	0	0	1	1	1	1	1	1	2	1	3	3	2	1	7	4	rs764088622		C3N-00175_TP	C3N-00175_NB	G	G																c.1030C>A	p.=	p.R344R	ENST00000511190	6/6	107	58	49	107	107	0	strelka-varscan-mutect	USP26,synonymous_variant,p.=,ENST00000511190,;USP26,synonymous_variant,p.=,ENST00000370832,NM_031907.1;	T	ENST00000511190	Transcript	synonymous_variant	1500/3665	1030/2742	344/913	R	Cgg/Agg	rs764088622,COSM1664913	1		-1	USP26	HGNC	HGNC:13485	protein_coding	YES	CCDS14635.1	ENSP00000423390	Q9BXU7		UPI00000421FD				6/6		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF390,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001											0,1						LOW	1	SNV	2		0,1	1										PASS		rs764088622	.												T	2	4	39	133027191	133027191	G	T	1	0	0	0	0	0	0	0	1	17598	1144	40	1		1	USP26	23	133027191	Silent	SNP	G	C3N-00175_TP	13939081	133027191	23013704	1381	11531											
ADGRG4	0	.	GRCh38	chrX	136348647	136348647	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctacgacctttctctcTccaacagagccaactttgcc	10	10	4	17	1	2	1	0	0	2	1	4	2	2	1	5	0	5	0	5	0	3	3	novel		C3N-00175_TP	C3N-00175_NB	T	T																c.4941T>A	p.=	p.S1647S	ENST00000394143	6/26	125	64	61	118	118	0	strelka-varscan-mutect	ADGRG4,synonymous_variant,p.=,ENST00000394143,NM_153834.3;ADGRG4,synonymous_variant,p.=,ENST00000370652,;ADGRG4,synonymous_variant,p.=,ENST00000394141,;	A	ENST00000394143	Transcript	synonymous_variant	5232/9931	4941/9243	1647/3080	S	tcT/tcA		1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3			6/26																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	39	136348647	136348647	T	A	1	0	0	0	0	0	0	0	1	371	1538	54	4		4	ADGRG4	23	136348647	Silent	SNP	T	C3N-00175_TP	3321456	136348647	19692248	1382	11532											
F9	0	.	GRCh38	chrX	139537098	139537098	+	Frame_Shift_Del	DEL	C	C	-																															gaagagtttgttcaagggaaCcttgagagagaatgtatgga																								rs139089559		C3N-00175_TP	C3N-00175_NB	C	C																c.178delC	p.Glu61ArgfsTer43	p.E61Rfs*43	ENST00000218099	2/8	60	36	24	125	125	0	sindel-varindel-pindel	F9,frameshift_variant,p.Glu61ArgfsTer43,ENST00000218099,NM_000133.3;F9,frameshift_variant,p.Glu61ArgfsTer34,ENST00000394090,;F9,non_coding_transcript_exon_variant,,ENST00000479617,;	-	ENST00000218099	Transcript	frameshift_variant	184/2780	177/1386	59/461	N/X	aaC/aa	rs139089559,COSM3379532	1		1	F9	HGNC	HGNC:3551	protein_coding	YES	CCDS14666.1	ENSP00000218099	P00740		UPI000002BA13	NM_000133.3			2/8		Gene3D:4.10.740.10,Pfam_domain:PF00594,PIRSF_domain:PIRSF001143,Prints_domain:PR00001,PROSITE_profiles:PS50998,SMART_domains:SM00069,Superfamily_domains:SSF57630											0,1						HIGH	1	deletion	1	1	0,1	1										PASS		.	.												-	7	5	39	139537098	139537098	C	-	1	0	1	0	1	0	0	0	0	5220	506	18	0		0	F9	23	139537098	Frame_Shift_Del	DEL	C	C3N-00175_TP	3188451	139537098	16503797	1383	11533											
MAGEC2	0	.	GRCh38	chrX	142203603	142203603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggactcactgtctggcaggcCctgacaggtgcctgtatcct	6	10	12	13	0	2	1	1	1	1	0	3	2	3	2	3	4	1	2	3	4	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.385G>T	p.Gly129Cys	p.G129C	ENST00000247452	3/3	67	50	17	73	73	0	strelka-varscan-mutect	MAGEC2,missense_variant,p.Gly129Cys,ENST00000247452,NM_016249.3;	A	ENST00000247452	Transcript	missense_variant	733/1991	385/1122	129/373	G/C	Ggc/Tgc		1		-1	MAGEC2	HGNC	HGNC:13574	protein_coding	YES	CCDS14678.1	ENSP00000354660	Q9UBF1		UPI000012F059	NM_016249.3	deleterious(0.04)		3/3		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	142203603	142203603	C	A	1	0	0	0	0	1	0	0	0	9099	623	22	2		2	MAGEC2	23	142203603	Missense_Mutation	SNP	C	C3N-00175_TP	2666505	142203603	13837292	1384	11534											
HSFX2	0	.	GRCh38	chrX	149594454	149594454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcgggacgtcaccgtCagggtgcggccttctgaacg	5	7	17	12	5	3	1	2	1	1	0	3	2	3	2	2	5	2	0	2	5	1	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.247G>T	p.Asp83Tyr	p.D83Y	ENST00000598963	1/2	22	14	8	29	29	0	strelka-varscan-mutect	HSFX2,missense_variant,p.Asp83Tyr,ENST00000598963,NM_001164415.2;TMEM185A,downstream_gene_variant,,ENST00000600449,NM_032508.3;TMEM185A,downstream_gene_variant,,ENST00000611119,NM_001174092.2;TMEM185A,downstream_gene_variant,,ENST00000613273,;TMEM185A,downstream_gene_variant,,ENST00000502858,;TMEM185A,downstream_gene_variant,,ENST00000616857,;TMEM185A,downstream_gene_variant,,ENST00000612022,;	A	ENST00000598963	Transcript	missense_variant	263/1365	247/1272	83/423	D/Y	Gac/Tac		1		-1	HSFX2	HGNC	HGNC:32701	protein_coding	YES	CCDS48179.1	ENSP00000469223	Q9UBD0	A0A140VK21	UPI000007033B	NM_001164415.2	tolerated(0.11)		1/2		hmmpanther:PTHR10015,hmmpanther:PTHR10015:SF163																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	149594454	149594454	C	A	1	0	0	0	0	1	0	0	0	7295	826	29	2		2	HSFX2	23	149594454	Missense_Mutation	SNP	C	C3N-00175_TP	7390851	149594454	6446441	1385	11535											
MAGEA11	0	.	GRCh38	chrX	149714554	149714554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtccacaactacagtggtCccaggatctgccaagagtcc	10	8	10	13	0	1	1	0	0	1	1	4	2	4	2	4	3	3	0	4	3	3	1	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.170C>A	p.Ser57Tyr	p.S57Y	ENST00000355220	3/5	78	49	29	91	91	0	strelka-varscan-mutect	MAGEA11,missense_variant,p.Ser57Tyr,ENST00000355220,NM_005366.4;MAGEA11,missense_variant,p.Ser28Tyr,ENST00000333104,NM_001011544.1;MAGEA11,missense_variant,p.Ser28Tyr,ENST00000412632,;MAGEA11,non_coding_transcript_exon_variant,,ENST00000518694,;	A	ENST00000355220	Transcript	missense_variant	272/1864	170/1290	57/429	S/Y	tCc/tAc		1		1	MAGEA11	HGNC	HGNC:6798	protein_coding	YES	CCDS48180.1	ENSP00000347358	P43364		UPI0000211BB0	NM_005366.4	deleterious_low_confidence(0)		3/5		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF71																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	39	149714554	149714554	C	A	1	0	0	0	0	1	0	0	0	9081	855	30	2		2	MAGEA11	23	149714554	Missense_Mutation	SNP	C	C3N-00175_TP	120100	149714554	6326341	1386	11536											
MAGEA8	0	.	GRCh38	chrX	149884508	149884508	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtcaccgacagcactcTgtggagccaatccgatgagg	10	7	12	12	2	2	1	1	1	1	0	3	5	3	2	3	2	2	1	3	2	1	0	rs782690283		C3N-00175_TP	C3N-00175_NB	T	T																c.236T>A	p.Leu79Gln	p.L79Q	ENST00000535454	4/4	85	45	40	97	97	0	strelka-varscan-mutect	MAGEA8,missense_variant,p.Leu79Gln,ENST00000535454,NM_001166400.1;MAGEA8,missense_variant,p.Leu79Gln,ENST00000542674,NM_001166401.1;MAGEA8,missense_variant,p.Leu79Gln,ENST00000286482,NM_005364.4;LINC00850,downstream_gene_variant,,ENST00000629221,;MAGEA8-AS1,upstream_gene_variant,,ENST00000427671,;MAGEA8,non_coding_transcript_exon_variant,,ENST00000493910,;MAGEA8,non_coding_transcript_exon_variant,,ENST00000345830,;	A	ENST00000535454	Transcript	missense_variant	785/2112	236/957	79/318	L/Q	cTg/cAg	rs782690283	1		1	MAGEA8	HGNC	HGNC:6806	protein_coding	YES	CCDS14692.1	ENSP00000438293	P43361		UPI0000071C79	NM_001166400.1	tolerated(0.3)		4/4		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF65,Pfam_domain:PF12440,SMART_domains:SM01392																	MODERATE		SNV	3			1										PASS		rs782690283	.												A	3	1	39	149884508	149884508	T	A	1	0	0	0	0	1	0	0	0	9086	1580	55	4		4	MAGEA8	23	149884508	Missense_Mutation	SNP	T	C3N-00175_TP	169954	149884508	6156387	1387	11537											
CXorf40B	0	.	GRCh38	chrX	149933757	149933757	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgagcaatgtggacggCgatggtacagttccgctggc	7	9	15	10	3	0	1	0	1	0	0	1	3	1	2	2	4	2	4	2	4	2	2	rs372900564		C3N-00175_TP	C3N-00175_NB	C	C																c.118G>C	p.Ala40Pro	p.A40P	ENST00000370406	4/5	178	89	89	190	190	0	strelka-varscan-mutect	CXorf40B,missense_variant,p.Ala40Pro,ENST00000370406,;CXorf40B,missense_variant,p.Ala40Pro,ENST00000462691,;CXorf40B,missense_variant,p.Ala40Pro,ENST00000370404,NM_001013845.1;CXorf40B,missense_variant,p.Ala40Pro,ENST00000370409,;CXorf40B,missense_variant,p.Ala40Pro,ENST00000355203,;CXorf40B,missense_variant,p.Ala40Pro,ENST00000483447,;XX-FW81066F1.2,downstream_gene_variant,,ENST00000457775,;LINC00894,upstream_gene_variant,,ENST00000449111,;CXorf40B,downstream_gene_variant,,ENST00000497550,;	G	ENST00000370406	Transcript	missense_variant	947/1653	118/477	40/158	A/P	Gcc/Ccc	rs372900564,COSM4107424,COSM4107425	1		-1	CXorf40B	HGNC	HGNC:17402	protein_coding	YES	CCDS35426.1	ENSP00000359434	Q96DE9		UPI0000072E4A		deleterious(0)		4/5		Gene3D:2.30.130.30,hmmpanther:PTHR31666,hmmpanther:PTHR31666:SF0,SMART_domains:SM01022,Superfamily_domains:SSF88697											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs372900564	.												G	3	3	39	149933757	149933757	C	G	1	0	0	0	0	1	0	0	0	3915	768	27	4		4	CXorf40B	23	149933757	Missense_Mutation	SNP	C	C3N-00175_TP	49249	149933757	6107138	1388	11538											
CNGA2	0	.	GRCh38	chrX	151742570	151742570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctacagaaaggctactacCtggtgtggctggtgctggat	9	10	13	9	0	0	1	0	0	0	1	0	2	0	2	2	5	4	3	2	5	4	3			C3N-00175_TP	C3N-00175_NB	C	C																c.517C>A	p.Leu173Met	p.L173M	ENST00000329903	5/6	83	43	40	88	87	1	strelka-varscan-mutect	CNGA2,missense_variant,p.Leu173Met,ENST00000329903,NM_005140.1;	A	ENST00000329903	Transcript	missense_variant	550/2834	517/1995	173/664	L/M	Ctg/Atg	COSM3559173	1		1	CNGA2	HGNC	HGNC:2149	protein_coding	YES	CCDS14701.1	ENSP00000328478	Q16280		UPI000003E7AE	NM_005140.1	tolerated(0.55)		5/6		Transmembrane_helices:TMhelix,hmmpanther:PTHR10217:SF389,hmmpanther:PTHR10217,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	39	151742570	151742570	C	A	1	0	0	0	0	1	0	0	0	3377	680	24	2		2	CNGA2	23	151742570	Missense_Mutation	SNP	C	C3N-00175_TP	1808813	151742570	4298325	1389	11539											
L1CAM	0	.	GRCh38	chrX	153864015	153864015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaggagggagcctcacgcGgcctgagggtgagacaccag	10	3	17	11	2	1	2	1	2	0	1	1	5	1	4	3	4	2	1	3	4	0	0	rs147688847		C3N-00175_TP	C3N-00175_NB	G	G																c.3325C>A	p.Arg1109Ser	p.R1109S	ENST00000370060	26/29	158	96	62	219	219	0	strelka-varscan-mutect	L1CAM,missense_variant,p.Arg1109Ser,ENST00000370060,NM_001278116.1,NM_000425.4;L1CAM,missense_variant,p.Arg1104Ser,ENST00000361981,NM_001143963.2;L1CAM,missense_variant,p.Arg1104Ser,ENST00000370055,;L1CAM,missense_variant,p.Arg1109Ser,ENST00000361699,NM_024003.3;L1CAM,intron_variant,,ENST00000370058,;L1CAM,downstream_gene_variant,,ENST00000455590,;L1CAM,upstream_gene_variant,,ENST00000491983,;L1CAM,downstream_gene_variant,,ENST00000474853,;L1CAM,downstream_gene_variant,,ENST00000496122,;L1CAM,downstream_gene_variant,,ENST00000484652,;	T	ENST00000370060	Transcript	missense_variant,splice_region_variant	3515/5113	3325/3774	1109/1257	R/S	Cgc/Agc	rs147688847	1		-1	L1CAM	HGNC	HGNC:6470	protein_coding	YES	CCDS14733.1	ENSP00000359077	P32004		UPI0000126E89	NM_001278116.1,NM_000425.4	tolerated(0.56)		26/29		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF593,hmmpanther:PTHR10489																	MODERATE	1	SNV	5			1										PASS		rs147688847	.												T	3	4	39	153864015	153864015	G	T	1	0	0	0	0	1	0	0	0	8489	1130	39	1		1	L1CAM	23	153864015	Missense_Mutation	SNP	G	C3N-00175_TP	2121445	153864015	2176880	1390	11540											
L1CAM	0	.	GRCh38	chrX	153867081	153867081	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatgaccatattggtggtCtcatttccttcccccttcac	6	15	7	13	0	2	2	2	2	1	0	5	2	4	2	4	2	0	0	4	2	1	5	novel		C3N-00175_TP	C3N-00175_NB	C	C																c.2181G>A	p.=	p.E727E	ENST00000370060	18/29	210	119	91	271	271	0	strelka-varscan-mutect	L1CAM,synonymous_variant,p.=,ENST00000370060,NM_001278116.1,NM_000425.4;L1CAM,synonymous_variant,p.=,ENST00000361981,NM_001143963.2;L1CAM,synonymous_variant,p.=,ENST00000370055,;L1CAM,synonymous_variant,p.=,ENST00000361699,NM_024003.3;L1CAM,synonymous_variant,p.=,ENST00000455590,;L1CAM,upstream_gene_variant,,ENST00000370058,;L1CAM,downstream_gene_variant,,ENST00000439496,;L1CAM,upstream_gene_variant,,ENST00000491983,;L1CAM,upstream_gene_variant,,ENST00000474853,;L1CAM,downstream_gene_variant,,ENST00000496122,;L1CAM,downstream_gene_variant,,ENST00000484652,;	T	ENST00000370060	Transcript	synonymous_variant	2371/5113	2181/3774	727/1257	E	gaG/gaA		1		-1	L1CAM	HGNC	HGNC:6470	protein_coding	YES	CCDS14733.1	ENSP00000359077	P32004		UPI0000126E89	NM_001278116.1,NM_000425.4			18/29		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF593,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	39	153867081	153867081	C	T	1	0	0	0	0	0	0	0	1	8489	912	32	3		3	L1CAM	23	153867081	Silent	SNP	C	C3N-00175_TP	3066	153867081	2173814	1391	11541											
L1CAM	0	.	GRCh38	chrX	153870234	153870234	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagccatttgatggtgggCgtgggactgcccgggaggca	6	7	18	10	3	0	1	0	1	0	0	0	3	0	3	2	5	2	2	2	5	0	1	rs201381558		C3N-00175_TP	C3N-00175_NB	C	C																c.813G>C	p.=	p.T271T	ENST00000370060	9/29	39	25	14	83	83	0	strelka-varscan-mutect	L1CAM,synonymous_variant,p.=,ENST00000370060,NM_001278116.1,NM_000425.4;L1CAM,synonymous_variant,p.=,ENST00000361981,NM_001143963.2;L1CAM,synonymous_variant,p.=,ENST00000370055,;L1CAM,synonymous_variant,p.=,ENST00000361699,NM_024003.3;L1CAM,downstream_gene_variant,,ENST00000439496,;L1CAM,downstream_gene_variant,,ENST00000458029,;L1CAM,downstream_gene_variant,,ENST00000407935,;L1CAM,upstream_gene_variant,,ENST00000455590,;L1CAM,downstream_gene_variant,,ENST00000420165,;L1CAM,downstream_gene_variant,,ENST00000464967,;L1CAM,upstream_gene_variant,,ENST00000474853,;L1CAM,upstream_gene_variant,,ENST00000496122,;L1CAM,downstream_gene_variant,,ENST00000460553,;L1CAM,upstream_gene_variant,,ENST00000484652,;	G	ENST00000370060	Transcript	synonymous_variant	1003/5113	813/3774	271/1257	T	acG/acC	rs201381558,COSM4697131,COSM4935096	1		-1	L1CAM	HGNC	HGNC:6470	protein_coding	YES	CCDS14733.1	ENSP00000359077	P32004		UPI0000126E89	NM_001278116.1,NM_000425.4			9/29		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF593,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs201381558	.												G	2	3	39	153870234	153870234	C	G	1	0	0	0	0	0	0	0	1	8489	755	27	4		4	L1CAM	23	153870234	Silent	SNP	C	C3N-00175_TP	3153	153870234	2170661	1392	11542											
PTPRU	0	.	GRCh38	chr1	29258632	29258632	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcctgtacagccgggacggGcacagcccgggcaccctggg	6	5	15	15	3	0	0	0	0	0	0	1	1	1	1	4	4	3	3	4	4	1	2	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.333G>C	p.=	p.G111G	ENST00000345512	3/31	203	111	92	309	309	0	strelka-varscan-mutect	PTPRU,synonymous_variant,p.=,ENST00000373779,NM_133178.3;PTPRU,synonymous_variant,p.=,ENST00000428026,NM_001195001.1;PTPRU,synonymous_variant,p.=,ENST00000460170,NM_133177.3;PTPRU,synonymous_variant,p.=,ENST00000345512,NM_005704.4;PTPRU,upstream_gene_variant,,ENST00000527027,;	C	ENST00000345512	Transcript	synonymous_variant	462/4470	333/4341	111/1446	G	ggG/ggC		1		1	PTPRU	HGNC	HGNC:9683	protein_coding	YES	CCDS334.1	ENSP00000334941	Q92729		UPI000013C57E	NM_005704.4			3/31		PROSITE_profiles:PS50060,hmmpanther:PTHR19134:SF207,hmmpanther:PTHR19134,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		rs1303749627	.												C	2	2	40	29258632	29258632	G	C	1	0	0	0	0	0	0	0	1	12968	1190	42	4		4	PTPRU	1	29258632	Silent	SNP	G	C3N-00180_TP		29258632	219697790	1	11543											
CSMD2	0	.	GRCh38	chr1	33533795	33533795	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgaagtctgcactcaCggacacagtcaggtggggtt	8	9	16	8	1	3	1	2	1	1	0	3	2	3	2	0	5	1	2	0	5	1	1			C3N-00180_TP	C3N-00180_NB	C	C																c.9991+1G>A		p.X3331_splice	ENST00000373381		109	56	53	183	183	0	strelka-varscan-mutect	CSMD2,splice_donor_variant,,ENST00000373381,NM_001281956.1;CSMD2,splice_donor_variant,,ENST00000619121,;CSMD2,splice_donor_variant,,ENST00000373388,NM_052896.4;CSMD2,splice_donor_variant,,ENST00000241312,;	T	ENST00000373381	Transcript	splice_donor_variant	-/13698	9991/10896	3331/3631			COSM1732300,COSM1732301	1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1				63/70												1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												T	5	4	40	33533795	33533795	C	T	1	0	0	0	0	0	0	1	0	3746	550	19	1		1	CSMD2	1	33533795	Splice_Site	SNP	C	C3N-00180_TP	4275163	33533795	215422627	2	11544											
LRRC40	0	.	GRCh38	chr1	70205525	70205525	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatcctgccccgctatccGcttcaggcgcgacatgttca	7	9	10	15	4	2	1	2	0	0	1	4	3	4	1	4	1	1	3	4	1	1	3	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.16C>A	p.=	p.R6R	ENST00000370952	1/15	100	58	42	110	110	0	strelka-varscan-mutect	LRRC40,synonymous_variant,p.=,ENST00000370952,NM_017768.4;SRSF11,upstream_gene_variant,,ENST00000370950,NM_004768.3;SRSF11,upstream_gene_variant,,ENST00000370951,NM_001190987.1;SRSF11,upstream_gene_variant,,ENST00000463877,;	T	ENST00000370952	Transcript	synonymous_variant	96/2884	16/1809	6/602	R	Cgg/Agg		1		-1	LRRC40	HGNC	HGNC:26004	protein_coding	YES	CCDS646.1	ENSP00000359990	Q9H9A6	A0A140VJN3	UPI000004A0A0	NM_017768.4			1/15																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	40	70205525	70205525	G	T	1	0	0	0	0	0	0	0	1	8894	1086	38	1		1	LRRC40	1	70205525	Silent	SNP	G	C3N-00180_TP	36671730	70205525	178750897	3	11545											
AMY2A	0	.	GRCh38	chr1	103619018	103619018	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctggaagtagggacttTccagcagtcccatattctgg	10	10	10	11	0	1	0	0	0	1	0	3	2	3	2	3	3	2	2	3	3	4	4	novel		C3N-00180_TP	C3N-00180_NB	T	T																c.423T>C	p.=	p.F141F	ENST00000622339	4/11	21	16	5	20	20	0	varscan-mutect	AMY2A,synonymous_variant,p.=,ENST00000622339,;AMY2A,synonymous_variant,p.=,ENST00000414303,NM_000699.3;AMY2A,synonymous_variant,p.=,ENST00000423678,;AMY2A,upstream_gene_variant,,ENST00000497748,;	C	ENST00000622339	Transcript	synonymous_variant	718/1862	423/1536	141/511	F	ttT/ttC		1		1	AMY2A	HGNC	HGNC:477	protein_coding	YES	CCDS783.1	ENSP00000481450	P04746		UPI0000000C80				4/11		Gene3D:3.20.20.80,Pfam_domain:PF00128,hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF161,SMART_domains:SM00642,Superfamily_domains:SSF51445																	LOW	1	SNV	5			1										PASS		rs1336382319	.												C	2	2	40	103619018	103619018	T	C	1	0	0	0	0	0	0	0	1	691	1780	62	5		5	AMY2A	1	103619018	Silent	SNP	T	C3N-00180_TP	33413493	103619018	145337404	4	11546											
FCRL5	0	.	GRCh38	chr1	157521250	157521250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtcccccaccgcagcatggGtcccgggagccctgagggtg	5	5	16	15	2	0	1	0	1	0	0	2	2	2	2	5	4	2	2	5	4	0	0	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.2282C>T	p.Thr761Ile	p.T761I	ENST00000361835	11/17	173	112	61	134	134	0	strelka-mutect	FCRL5,missense_variant,p.Thr761Ile,ENST00000361835,NM_001195388.1,NM_031281.2;FCRL5,downstream_gene_variant,,ENST00000368190,;FCRL5,non_coding_transcript_exon_variant,,ENST00000461387,;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,;FCRL5,upstream_gene_variant,,ENST00000483875,;	A	ENST00000361835	Transcript	missense_variant	2440/5390	2282/2934	761/977	T/I	aCc/aTc		1		-1	FCRL5	HGNC	HGNC:18508	protein_coding	YES	CCDS1165.1	ENSP00000354691	Q96RD9		UPI0000458907	NM_001195388.1,NM_031281.2	deleterious(0.02)		11/17		PROSITE_profiles:PS50835,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs900884937	.												A	3	1	40	157521250	157521250	G	A	1	0	0	0	0	1	0	0	0	5660	1261	44	3		3	FCRL5	1	157521250	Missense_Mutation	SNP	G	C3N-00180_TP	53902232	157521250	91435172	5	11547											
FASLG	0	.	GRCh38	chr1	172660127	172660127	+	Frame_Shift_Del	DEL	G	G	-																															atgcacacagcatcatctttGgagaagcaaataggtgagtc																								novel		C3N-00180_TP	C3N-00180_NB	G	G																c.382delG	p.Glu128ArgfsTer4	p.E128Rfs*4	ENST00000367721	2/4	289	113	176	379	379	0	sindel-varindel-pindel	FASLG,frameshift_variant,p.Glu128ArgfsTer4,ENST00000367721,NM_000639.2;FASLG,intron_variant,,ENST00000340030,NM_001302746.1;	-	ENST00000367721	Transcript	frameshift_variant	565/1888	381/846	127/281	L/X	ttG/tt		1		1	FASLG	HGNC	HGNC:11936	protein_coding	YES	CCDS1304.1	ENSP00000356694	P48023	Q53ZZ1	UPI000000D91A	NM_000639.2			2/4		hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF33																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	40	172660127	172660127	G	-	1	0	1	0	1	0	0	0	0	5542	1339	47	0		0	FASLG	1	172660127	Frame_Shift_Del	DEL	G	C3N-00180_TP	15138877	172660127	76296295	6	11548											
TNR	0	.	GRCh38	chr1	175323466	175323466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcctttccaatggtacCagttgatgccctgggcgtga	7	11	12	11	1	0	2	0	2	0	0	1	2	1	2	4	3	2	2	4	3	2	3	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.3968G>T	p.Trp1323Leu	p.W1323L	ENST00000367674	23/23	164	120	44	151	151	0	strelka-varscan-mutect	TNR,missense_variant,p.Trp1323Leu,ENST00000367674,;TNR,missense_variant,p.Trp1323Leu,ENST00000263525,NM_003285.2;RP3-518E13.2,intron_variant,,ENST00000569593,;	A	ENST00000367674	Transcript	missense_variant	4677/12949	3968/4077	1323/1358	W/L	tGg/tTg		1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C		deleterious(0)		23/23		Gene3D:4.10.530.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF254,SMART_domains:SM00186,Superfamily_domains:SSF56496																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	40	175323466	175323466	C	A	1	0	0	0	0	1	0	0	0	16811	595	21	2		2	TNR	1	175323466	Missense_Mutation	SNP	C	C3N-00180_TP	2663339	175323466	73632956	7	11549											
ASTN1	0	.	GRCh38	chr1	177023565	177023565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccctccagcaagatgaagCggctccctgcagggtgagag	9	6	13	13	1	0	3	0	2	0	2	3	4	3	3	4	2	3	3	4	2	2	0	rs750249282		C3N-00180_TP	C3N-00180_NB	C	C																c.1277G>T	p.Arg426Leu	p.R426L	ENST00000361833	7/23	40	19	21	52	52	0	strelka-varscan-mutect	ASTN1,missense_variant,p.Arg426Leu,ENST00000361833,NM_004319.2;ASTN1,missense_variant,p.Arg426Leu,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Arg426Leu,ENST00000424564,NM_207108.2;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;ASTN1,intron_variant,,ENST00000473640,;	A	ENST00000361833	Transcript	missense_variant	1291/7116	1277/3885	426/1294	R/L	cGc/cTc	rs750249282,COSM4872669,COSM4947414,COSM73755,COSM900056	1		-1	ASTN1	HGNC	HGNC:773	protein_coding	YES	CCDS1319.1	ENSP00000354536	O14525		UPI0000160388	NM_004319.2	deleterious(0.01)		7/23		hmmpanther:PTHR16592:SF8,hmmpanther:PTHR16592											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs750249282	.												A	3	1	40	177023565	177023565	C	A	1	0	0	0	0	1	0	0	0	1211	768	27	1		1	ASTN1	1	177023565	Missense_Mutation	SNP	C	C3N-00180_TP	1700099	177023565	71932857	8	11550											
F13B	0	.	GRCh38	chr1	197060442	197060442	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatccacttagataataattTtcatgacagaaaaactgaac	18	11	5	7	0	1	4	1	2	0	2	2	5	2	4	1	0	2	0	1	0	6	5			C3N-00180_TP	C3N-00180_NB	T	T																c.729A>T	p.Glu243Asp	p.E243D	ENST00000367412	5/12	52	42	10	135	135	0	strelka-mutect	F13B,missense_variant,p.Glu243Asp,ENST00000367412,NM_001994.2;	A	ENST00000367412	Transcript	missense_variant	773/2217	729/1986	243/661	E/D	gaA/gaT	COSM4682191	1		-1	F13B	HGNC	HGNC:3534	protein_coding	YES	CCDS1388.1	ENSP00000356382	P05160		UPI000013D8E0	NM_001994.2	tolerated(0.05)		5/12		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF314,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	40	197060442	197060442	T	A	1	0	0	0	0	1	0	0	0	5209	1838	64	4		4	F13B	1	197060442	Missense_Mutation	SNP	T	C3N-00180_TP	20036877	197060442	51895980	9	11551											
DNAH14	0	.	GRCh38	chr1	225305048	225305048	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttatggaaacatttgcAcacattttgagggcacgaga	14	11	9	7	1	0	2	0	1	0	1	0	4	0	3	0	2	2	2	0	2	3	5	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.8685A>C	p.=	p.A2895A	ENST00000430092	56/84	127	90	37	262	261	1	strelka-varscan-mutect	DNAH14,synonymous_variant,p.=,ENST00000430092,NM_001373.1;DNAH14,synonymous_variant,p.=,ENST00000439375,;DNAH14,synonymous_variant,p.=,ENST00000445597,;DNAH14,synonymous_variant,p.=,ENST00000327794,;	C	ENST00000430092	Transcript	synonymous_variant	8900/13763	8685/13548	2895/4515	A	gcA/gcC		1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000414402	Q0VDD8		UPI000192C36D	NM_001373.1			56/84		hmmpanther:PTHR10676:SF254,hmmpanther:PTHR10676,Pfam_domain:PF12780																	LOW		SNV	5			1										PASS		.	.												C	2	2	40	225305048	225305048	A	C	1	0	0	0	0	0	0	0	1	4415	146	6	5		5	DNAH14	1	225305048	Silent	SNP	A	C3N-00180_TP	28244606	225305048	23651374	10	11552											
OBSCN	0	.	GRCh38	chr1	228282079	228282079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagtgggcagctccagcCgcttccaggccacacgtcag	9	5	12	15	2	1	1	1	0	0	1	3	1	3	1	4	2	2	3	4	2	0	1	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.9631C>T	p.Arg3211Cys	p.R3211C	ENST00000570156	36/116	324	170	154	452	452	0	strelka-varscan-mutect	OBSCN,missense_variant,p.Arg3211Cys,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Arg3211Cys,ENST00000366707,;OBSCN,missense_variant,p.Arg2782Cys,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Arg2782Cys,ENST00000636875,;OBSCN,missense_variant,p.Arg2782Cys,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Arg58Cys,ENST00000483539,;OBSCN,missense_variant,p.Arg630Cys,ENST00000366706,;OBSCN,non_coding_transcript_exon_variant,,ENST00000366704,;	T	ENST00000570156	Transcript	missense_variant	9705/26925	9631/26772	3211/8923	R/C	Cgc/Tgc		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	deleterious(0.01)		36/116		Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs1041621354	.												T	3	4	40	228282079	228282079	C	T	1	0	0	0	0	1	0	0	0	10889	652	23	1		1	OBSCN	1	228282079	Missense_Mutation	SNP	C	C3N-00180_TP	2977031	228282079	20674343	11	11553											
OR2G2	0	.	GRCh38	chr1	247588786	247588786	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtcttaatgcatatccatCtctgcatggccttggcatct	7	15	7	12	0	3	0	0	0	3	0	5	0	4	0	2	2	2	3	2	2	2	3	rs764488449		C3N-00180_TP	C3N-00180_NB	C	C																c.427C>G	p.Leu143Val	p.L143V	ENST00000320065	1/1	282	226	56	350	350	0	strelka-varscan-mutect	OR2G2,missense_variant,p.Leu143Val,ENST00000320065,NM_001001915.1;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;	G	ENST00000320065	Transcript	missense_variant	427/954	427/954	143/317	L/V	Ctc/Gtc	rs764488449,COSM5536089	1		1	OR2G2	HGNC	HGNC:15007	protein_coding	YES	CCDS31092.1	ENSP00000326349	Q8NGZ5		UPI0000061EB9	NM_001001915.1	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF132,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						MODERATE		SNV			0,1	1										PASS		rs764488449	.												G	3	3	40	247588786	247588786	C	G	1	0	0	0	0	1	0	0	0	11076	913	32	4		4	OR2G2	1	247588786	Missense_Mutation	SNP	C	C3N-00180_TP	19306707	247588786	1367636	12	11554											
ZNF692	0	.	GRCh38	chr1	248858247	248858247	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcacttgctgcggcgcgcGtccagctgccgccgcttctc	2	8	13	18	7	1	0	0	0	1	0	3	0	2	0	3	2	4	4	3	2	0	2	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.78C>G	p.Asp26Glu	p.D26E	ENST00000451251	2/12	71	63	8	74	73	1	varscan-mutect	ZNF692,missense_variant,p.Asp26Glu,ENST00000451251,NM_001136036.2;ZNF692,missense_variant,p.Asp21Glu,ENST00000306601,NM_017865.3;ZNF692,missense_variant,p.Asp21Glu,ENST00000366471,NM_001193328.1;ZNF692,missense_variant,p.Asp21Glu,ENST00000496231,;ZNF692,upstream_gene_variant,,ENST00000476503,;AL672294.1,upstream_gene_variant,,ENST00000417047,;ZNF692,non_coding_transcript_exon_variant,,ENST00000533614,;ZNF692,non_coding_transcript_exon_variant,,ENST00000495731,;ZNF692,upstream_gene_variant,,ENST00000468455,;ZNF692,missense_variant,p.Asp21Glu,ENST00000463519,;ZNF692,missense_variant,p.Asp21Glu,ENST00000412341,;ZNF692,missense_variant,p.Asp21Glu,ENST00000496411,;ZNF692,missense_variant,p.Asp21Glu,ENST00000483223,;ZNF692,missense_variant,p.Asp21Glu,ENST00000530986,;ZNF692,missense_variant,p.Asp21Glu,ENST00000528141,;ZNF692,missense_variant,p.Asp21Glu,ENST00000533647,;ZNF692,non_coding_transcript_exon_variant,,ENST00000470787,;ZNF692,non_coding_transcript_exon_variant,,ENST00000497847,;ZNF692,non_coding_transcript_exon_variant,,ENST00000530699,;ZNF692,non_coding_transcript_exon_variant,,ENST00000496053,;ZNF692,non_coding_transcript_exon_variant,,ENST00000483791,;ZNF692,non_coding_transcript_exon_variant,,ENST00000534456,;ZNF692,non_coding_transcript_exon_variant,,ENST00000534660,;ZNF692,non_coding_transcript_exon_variant,,ENST00000533976,;ZNF692,upstream_gene_variant,,ENST00000533927,;ZNF692,upstream_gene_variant,,ENST00000477070,;ZNF692,upstream_gene_variant,,ENST00000478107,;ZNF692,upstream_gene_variant,,ENST00000474351,;ZNF692,upstream_gene_variant,,ENST00000482023,;ZNF692,upstream_gene_variant,,ENST00000462037,;ZNF692,upstream_gene_variant,,ENST00000491971,;	C	ENST00000451251	Transcript	missense_variant	424/2065	78/1575	26/524	D/E	gaC/gaG		1		-1	ZNF692	HGNC	HGNC:26049	protein_coding	YES	CCDS44348.1	ENSP00000391200	Q9BU19		UPI00017A804A	NM_001136036.2	deleterious(0)		2/12																			MODERATE	1	SNV	2			1										PASS		rs1417125257	.												C	3	2	40	248858247	248858247	G	C	1	0	0	0	0	1	0	0	0	18670	1136	40	4		4	ZNF692	1	248858247	Missense_Mutation	SNP	G	C3N-00180_TP	1269461	248858247	98175	13	11555											
EPCAM	0	.	GRCh38	chr2	47379910	47379910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatgcagggtctaaaagctGgtgttattgctgttattgtg	9	15	12	5	0	1	0	0	0	1	0	1	0	1	0	0	2	3	5	0	2	5	5	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.799G>T	p.Gly267Cys	p.G267C	ENST00000263735	7/9	683	455	228	612	612	0	strelka-varscan	EPCAM,missense_variant,p.Gly267Cys,ENST00000263735,NM_002354.2;EPCAM,missense_variant,p.Gly295Cys,ENST00000405271,;MIR559,downstream_gene_variant,,ENST00000385188,;Metazoa_SRP,upstream_gene_variant,,ENST00000622819,;EPCAM,missense_variant,p.Gly295Cys,ENST00000456133,;EPCAM,non_coding_transcript_exon_variant,,ENST00000490733,;EPCAM,downstream_gene_variant,,ENST00000474691,;	T	ENST00000263735	Transcript	missense_variant	1157/1724	799/945	267/314	G/C	Ggt/Tgt		1		1	EPCAM	HGNC	HGNC:11529	protein_coding	YES	CCDS1833.1	ENSP00000263735	P16422		UPI000013D450	NM_002354.2	deleterious(0)		7/9		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR14168:SF2,hmmpanther:PTHR14168																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	40	47379910	47379910	G	T	1	0	0	0	0	1	0	0	0	5008	1348	47	2		2	EPCAM	2	47379910	Missense_Mutation	SNP	G	C3N-00180_TP		47379910	194813619	14	11556											
OTX1	0	.	GRCh38	chr2	63054101	63054101	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacgcgttcacagctggAcgtgctcgaggcgctcttcg	5	10	12	14	6	3	0	2	0	1	0	5	2	3	1	0	2	2	4	0	2	0	3	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.152A>G	p.Asp51Gly	p.D51G	ENST00000282549	4/5	135	80	55	204	204	0	strelka-varscan	OTX1,missense_variant,p.Asp51Gly,ENST00000282549,NM_014562.3;OTX1,missense_variant,p.Asp51Gly,ENST00000366671,NM_001199770.1;OTX1,synonymous_variant,p.=,ENST00000405984,;OTX1,downstream_gene_variant,,ENST00000484066,;OTX1,downstream_gene_variant,,ENST00000477348,;OTX1,downstream_gene_variant,,ENST00000476383,;	G	ENST00000282549	Transcript	missense_variant	428/2861	152/1065	51/354	D/G	gAc/gGc		1		1	OTX1	HGNC	HGNC:8521	protein_coding	YES	CCDS1873.1	ENSP00000282549	P32242		UPI0000130F36	NM_014562.3	deleterious(0.02)		4/5		PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF310,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	40	63054101	63054101	A	G	1	0	0	0	0	1	0	0	0	11390	275	10	5		5	OTX1	2	63054101	Missense_Mutation	SNP	A	C3N-00180_TP	15674191	63054101	179139428	15	11557											
DYSF	0	.	GRCh38	chr2	71520802	71520802	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttagggcacgcctatctCaggaagtggctgctgctctc	6	11	11	13	1	3	0	1	0	3	0	5	1	3	1	1	3	2	4	1	3	3	2			C3N-00180_TP	C3N-00180_NB	C	C																c.1047C>A	p.=	p.L349L	ENST00000410020	12/56	521	304	217	587	587	0	strelka-varscan	DYSF,synonymous_variant,p.=,ENST00000258104,NM_003494.3,NM_001130976.1;DYSF,synonymous_variant,p.=,ENST00000409582,NM_001130981.1,NM_001130977.1;DYSF,synonymous_variant,p.=,ENST00000413539,NM_001130979.1;DYSF,synonymous_variant,p.=,ENST00000429174,NM_001130978.1;DYSF,synonymous_variant,p.=,ENST00000409762,NM_001130980.1;DYSF,synonymous_variant,p.=,ENST00000410020,NM_001130987.1;DYSF,synonymous_variant,p.=,ENST00000409651,NM_001130982.1;DYSF,synonymous_variant,p.=,ENST00000409366,NM_001130983.1;DYSF,synonymous_variant,p.=,ENST00000410041,NM_001130985.1;DYSF,synonymous_variant,p.=,ENST00000409744,NM_001130984.1,NM_001130986.1;DYSF,synonymous_variant,p.=,ENST00000394120,NM_001130455.1;	A	ENST00000410020	Transcript	synonymous_variant	1188/6657	1047/6360	349/2119	L	ctC/ctA	COSM1149220,COSM721915	1		1	DYSF	HGNC	HGNC:3097	protein_coding	YES	CCDS46328.1	ENSP00000386881	O75923		UPI000171F710	NM_001130987.1			12/56		Gene3D:2.60.40.150,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF33,SMART_domains:SM00239,SMART_domains:SM01202,Superfamily_domains:SSF49562											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	40	71520802	71520802	C	A	1	0	0	0	0	0	0	0	1	4683	813	29	2		2	DYSF	2	71520802	Silent	SNP	C	C3N-00180_TP	8466701	71520802	170672727	16	11558											
CFAP221	0	.	GRCh38	chr2	119652059	119652059	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaactacaaggacatcAggaaggagaagtaagtggat	16	8	13	4	0	1	2	1	1	0	1	1	6	1	5	0	4	2	2	0	4	6	3	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.2404A>T	p.Arg802Trp	p.R802W	ENST00000413369	23/24	138	77	61	139	139	0	strelka-varscan	CFAP221,missense_variant,p.Arg361Trp,ENST00000443972,;CFAP221,missense_variant,p.Arg802Trp,ENST00000413369,NM_001271049.1;CFAP221,downstream_gene_variant,,ENST00000434869,;CFAP221,upstream_gene_variant,,ENST00000464578,;CFAP221,3_prime_UTR_variant,,ENST00000295220,;	T	ENST00000413369	Transcript	missense_variant	2491/2801	2404/2523	802/840	R/W	Agg/Tgg		1		1	CFAP221	HGNC	HGNC:33720	protein_coding	YES	CCDS33282.2	ENSP00000393222	Q4G0U5		UPI0001D322F9	NM_001271049.1	deleterious(0)		23/24		hmmpanther:PTHR23053																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	40	119652059	119652059	A	T	1	0	0	0	0	1	0	0	0	3016	179	7	4		4	CFAP221	2	119652059	Missense_Mutation	SNP	A	C3N-00180_TP	48131257	119652059	122541470	17	11559											
AMER3	0	.	GRCh38	chr2	130763837	130763837	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggccctcggaggggccAcacaagggactggcacactg	10	3	15	13	1	0	0	0	0	0	0	1	2	0	2	2	6	0	2	2	6	2	0	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.1765A>T	p.Thr589Ser	p.T589S	ENST00000423981	2/2	161	105	56	118	118	0	strelka-varscan	AMER3,missense_variant,p.Thr589Ser,ENST00000423981,NM_001105193.1,NM_001105195.1,NM_001105194.1;AMER3,missense_variant,p.Thr589Ser,ENST00000321420,NM_152698.2;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	T	ENST00000423981	Transcript	missense_variant	1875/6172	1765/2586	589/861	T/S	Aca/Tca		1		1	AMER3	HGNC	HGNC:26771	protein_coding	YES	CCDS2164.1	ENSP00000392700	Q8N944		UPI0000D61239	NM_001105193.1,NM_001105195.1,NM_001105194.1	tolerated(0.69)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2																	MODERATE	1	SNV	4			1										PASS		.	.												T	3	4	40	130763837	130763837	A	T	1	0	0	0	0	1	0	0	0	669	159	6	4		4	AMER3	2	130763837	Missense_Mutation	SNP	A	C3N-00180_TP	11111778	130763837	111429692	18	11560											
THSD7B	0	.	GRCh38	chr2	137572454	137572454	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagtggatagcaacctGtgcaaccaggatgaaattcc	13	7	12	9	0	0	1	0	1	0	0	1	4	1	4	3	3	5	3	3	3	4	2	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.3327G>T	p.=	p.L1109L	ENST00000272643	16/27	201	123	78	178	178	0	strelka-varscan	THSD7B,synonymous_variant,p.=,ENST00000409968,NM_001316349.1;THSD7B,synonymous_variant,p.=,ENST00000272643,;THSD7B,synonymous_variant,p.=,ENST00000413152,NM_001080427.1;	T	ENST00000272643	Transcript	synonymous_variant	3327/5939	3327/4827	1109/1608	L	ctG/ctT		1		1	THSD7B	HGNC	HGNC:29348	protein_coding	YES		ENSP00000272643	Q9C0I4		UPI0004E4C87A				16/27		Gene3D:2.20.100.10,PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7,SMART_domains:SM00209,Superfamily_domains:SSF82895																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	40	137572454	137572454	G	T	1	0	0	0	0	0	0	0	1	16314	1364	48	2		2	THSD7B	2	137572454	Silent	SNP	G	C3N-00180_TP	6808617	137572454	104621075	19	11561											
RFTN2	0	.	GRCh38	chr2	197617874	197617874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctggaactccagaaccttCttcttcatagataaaaaatc	15	11	4	11	0	3	2	1	0	2	2	5	3	4	3	3	1	2	0	3	1	6	5	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.976G>A	p.Glu326Lys	p.E326K	ENST00000295049	6/9	135	105	30	215	215	0	strelka-varscan	RFTN2,missense_variant,p.Glu326Lys,ENST00000295049,NM_144629.2;RFTN2,missense_variant,p.Glu8Lys,ENST00000454447,;RFTN2,non_coding_transcript_exon_variant,,ENST00000494346,;	T	ENST00000295049	Transcript	missense_variant	1513/5827	976/1506	326/501	E/K	Gaa/Aaa		1		-1	RFTN2	HGNC	HGNC:26402	protein_coding	YES	CCDS2323.1	ENSP00000295049	Q52LD8		UPI000013E1F9	NM_144629.2	tolerated(0.32)		6/9		hmmpanther:PTHR17601,hmmpanther:PTHR17601:SF1,Pfam_domain:PF15250																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	40	197617874	197617874	C	T	1	0	0	0	0	1	0	0	0	13433	922	32	3		3	RFTN2	2	197617874	Missense_Mutation	SNP	C	C3N-00180_TP	60045420	197617874	44575655	20	11562											
TMEM237	0	.	GRCh38	chr2	201629771	201629771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccacatctctggtggtcCaggaaggcttcacgtccatt	7	11	11	12	1	2	0	1	0	1	0	5	1	4	1	3	4	1	1	3	4	1	2	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.635G>T	p.Trp212Leu	p.W212L	ENST00000409883	8/13	164	99	65	321	320	1	strelka-varscan	TMEM237,missense_variant,p.Trp204Leu,ENST00000409444,NM_152388.3;TMEM237,missense_variant,p.Trp212Leu,ENST00000409883,NM_001044385.2;TMEM237,missense_variant,p.Trp204Leu,ENST00000621467,;TMEM237,non_coding_transcript_exon_variant,,ENST00000466839,;TMEM237,non_coding_transcript_exon_variant,,ENST00000466641,;TMEM237,upstream_gene_variant,,ENST00000471318,;TMEM237,downstream_gene_variant,,ENST00000489550,;TMEM237,3_prime_UTR_variant,,ENST00000286196,;TMEM237,3_prime_UTR_variant,,ENST00000432684,;TMEM237,3_prime_UTR_variant,,ENST00000444047,;TMEM237,upstream_gene_variant,,ENST00000495329,;	A	ENST00000409883	Transcript	missense_variant	752/5415	635/1227	212/408	W/L	tGg/tTg		1		-1	TMEM237	HGNC	HGNC:14432	protein_coding	YES	CCDS46489.1	ENSP00000386264	Q96Q45		UPI0000DD5A47	NM_001044385.2	tolerated(0.06)		8/13		hmmpanther:PTHR28388,hmmpanther:PTHR28388:SF1,Pfam_domain:PF15383																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	40	201629771	201629771	C	A	1	0	0	0	0	1	0	0	0	16598	595	21	2		2	TMEM237	2	201629771	Missense_Mutation	SNP	C	C3N-00180_TP	4011897	201629771	40563758	21	11563											
ALPI	0	.	GRCh38	chr2	232456254	232456254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaggctacagctctccctgGgcgtcatcccaggtaatgag	8	9	12	12	1	2	2	1	2	1	0	4	2	3	2	2	3	2	3	2	3	2	2	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.55G>T	p.Gly19Cys	p.G19C	ENST00000295463	1/11	413	261	152	454	453	1	strelka-varscan-mutect	ALPI,missense_variant,p.Gly19Cys,ENST00000295463,NM_001631.4;ALPI,missense_variant,p.Gly19Cys,ENST00000457560,;	T	ENST00000295463	Transcript	missense_variant	132/2550	55/1587	19/528	G/C	Ggc/Tgc		1		1	ALPI	HGNC	HGNC:437	protein_coding	YES	CCDS2492.1	ENSP00000295463	P09923	A0A024R4A2	UPI0000131FFE	NM_001631.4	tolerated(0.11)		1/11		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11596:SF31,hmmpanther:PTHR11596																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	40	232456254	232456254	G	T	1	0	0	0	0	1	0	0	0	643	1232	43	2		2	ALPI	2	232456254	Missense_Mutation	SNP	G	C3N-00180_TP	30826483	232456254	9737275	22	11564											
ALS2CL	0	.	GRCh38	chr3	46689337	46689337	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactagaaagcctagactcaCcggctgggagcaggggctgg	10	5	15	11	1	1	2	1	0	0	2	1	3	1	3	2	5	2	3	2	5	3	2	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.103+1G>T		p.X35_splice	ENST00000318962		162	68	94	333	333	0	strelka-varscan-mutect	ALS2CL,splice_donor_variant,,ENST00000318962,NM_147129.3;ALS2CL,splice_donor_variant,,ENST00000415953,NM_001190707.1;ALS2CL,splice_donor_variant,,ENST00000450172,;ALS2CL,splice_donor_variant,,ENST00000431015,;ALS2CL,splice_donor_variant,,ENST00000434140,;ALS2CL,upstream_gene_variant,,ENST00000423707,;	A	ENST00000318962	Transcript	splice_donor_variant	-/4741	103/2862	35/953				1		-1	ALS2CL	HGNC	HGNC:20605	protein_coding	YES	CCDS2743.1	ENSP00000313670	Q60I27	A0A024R2U1	UPI00001B5641	NM_147129.3				2/25																		HIGH	1	SNV	1			1										PASS		rs1157881315	.												A	5	1	40	46689337	46689337	C	A	1	0	0	0	0	0	0	1	0	651	521	18	2		2	ALS2CL	3	46689337	Splice_Site	SNP	C	C3N-00180_TP		46689337	151606222	23	11565											
USP19	0	.	GRCh38	chr3	49112574	49112574	+	Missense_Mutation	SNP	A	A	C																															ggagcgtatcagatggggacAcagtgtccagtgagtgggag																								novel		C3N-00180_TP	C3N-00180_NB	A	A																c.2555T>G	p.Val852Gly	p.V852G	ENST00000434032	18/27	59	23	36	110	109	1	strelka-varscan-mutect	USP19,missense_variant,p.Val842Gly,ENST00000453664,NM_001199162.1;USP19,missense_variant,p.Val854Gly,ENST00000417901,NM_001199161.1;USP19,missense_variant,p.Val852Gly,ENST00000434032,NM_001199160.1;USP19,missense_variant,p.Val791Gly,ENST00000398892,;USP19,missense_variant,p.Val751Gly,ENST00000398888,NM_006677.2;USP19,missense_variant,p.Val791Gly,ENST00000398898,;USP19,missense_variant,p.Val650Gly,ENST00000398896,;USP19,downstream_gene_variant,,ENST00000306026,;USP19,downstream_gene_variant,,ENST00000479073,;USP19,downstream_gene_variant,,ENST00000488993,;USP19,downstream_gene_variant,,ENST00000491859,;USP19,downstream_gene_variant,,ENST00000464931,;USP19,upstream_gene_variant,,ENST00000483667,;USP19,downstream_gene_variant,,ENST00000480163,;	C	ENST00000434032	Transcript	missense_variant	2767/4677	2555/4260	852/1419	V/G	gTg/gGg		1		-1	USP19	HGNC	HGNC:12617	protein_coding	YES	CCDS56254.1	ENSP00000401197	O94966		UPI000198CAB3	NM_001199160.1	deleterious(0)		18/27		PROSITE_profiles:PS50235,Pfam_domain:PF00443																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	40	49112574	49112574	A	C	1	0	0	0	0	1	0	0	0	17591	159	6	5		5	USP19	3	49112574	Missense_Mutation	SNP	A	C3N-00180_TP	2423237	49112574	149182985	24	11566	263	2									
USP19	0	.	GRCh38	chr3	49112575	49112575	+	Missense_Mutation	SNP	C	C	A																															gagcgtatcagatggggacaCagtgtccagtgagtgggagg																								novel		C3N-00180_TP	C3N-00180_NB	C	C																c.2554G>T	p.Val852Leu	p.V852L	ENST00000434032	18/27	59	23	36	111	111	0	strelka-varscan-mutect	USP19,missense_variant,p.Val842Leu,ENST00000453664,NM_001199162.1;USP19,missense_variant,p.Val854Leu,ENST00000417901,NM_001199161.1;USP19,missense_variant,p.Val852Leu,ENST00000434032,NM_001199160.1;USP19,missense_variant,p.Val791Leu,ENST00000398892,;USP19,missense_variant,p.Val751Leu,ENST00000398888,NM_006677.2;USP19,missense_variant,p.Val791Leu,ENST00000398898,;USP19,missense_variant,p.Val650Leu,ENST00000398896,;USP19,downstream_gene_variant,,ENST00000306026,;USP19,downstream_gene_variant,,ENST00000479073,;USP19,downstream_gene_variant,,ENST00000488993,;USP19,downstream_gene_variant,,ENST00000491859,;USP19,downstream_gene_variant,,ENST00000464931,;USP19,upstream_gene_variant,,ENST00000483667,;USP19,downstream_gene_variant,,ENST00000480163,;	A	ENST00000434032	Transcript	missense_variant	2766/4677	2554/4260	852/1419	V/L	Gtg/Ttg		1		-1	USP19	HGNC	HGNC:12617	protein_coding	YES	CCDS56254.1	ENSP00000401197	O94966		UPI000198CAB3	NM_001199160.1	tolerated(0.08)		18/27		PROSITE_profiles:PS50235,Pfam_domain:PF00443																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	40	49112575	49112575	C	A	1	0	0	0	0	1	0	0	0	17591	478	17	2		2	USP19	3	49112575	Missense_Mutation	SNP	C	C3N-00180_TP	1	49112575	149182984	25	11567	263	2									
NFKBIZ	0	.	GRCh38	chr3	101849717	101849717	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcatgaccagcccgcTcaacctgagctacttctacg	8	8	8	17	3	3	2	2	2	1	0	3	2	3	2	4	1	5	2	4	1	3	3	novel		C3N-00180_TP	C3N-00180_NB	T	T																c.89T>G	p.Leu30Arg	p.L30R	ENST00000326172	1/12	30	12	18	72	72	0	strelka-varscan-mutect	NFKBIZ,missense_variant,p.Leu30Arg,ENST00000326172,NM_031419.3;NFKBIZ,missense_variant,p.Leu30Arg,ENST00000326151,;NFKBIZ,missense_variant,p.Leu30Arg,ENST00000461724,;NFKBIZ,intron_variant,,ENST00000394054,NM_001005474.2;NFKBIZ,intron_variant,,ENST00000483180,;NFKBIZ,upstream_gene_variant,,ENST00000491281,;NFKBIZ,non_coding_transcript_exon_variant,,ENST00000486444,;NFKBIZ,upstream_gene_variant,,ENST00000465476,;	G	ENST00000326172	Transcript	missense_variant	204/3923	89/2157	30/718	L/R	cTc/cGc		1		1	NFKBIZ	HGNC	HGNC:29805	protein_coding	YES	CCDS2946.1	ENSP00000325663	Q9BYH8		UPI000006FBB1	NM_031419.3	deleterious_low_confidence(0)		1/12																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	40	101849717	101849717	T	G	1	0	0	0	0	1	0	0	0	10419	1551	54	5		5	NFKBIZ	3	101849717	Missense_Mutation	SNP	T	C3N-00180_TP	52737142	101849717	96445842	26	11568											
OPA1	0	.	GRCh38	chr3	193659505	193659505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaatgcaattgaaaacatgGtgggtccagactggaaaaag	18	7	11	5	0	0	2	0	1	0	1	1	3	1	3	1	3	2	1	1	3	7	1	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.2410G>T	p.Val804Leu	p.V804L	ENST00000361908	24/30	165	72	93	329	329	0	strelka-varscan-mutect	OPA1,missense_variant,p.Val822Leu,ENST00000361510,NM_130837.2;OPA1,missense_variant,p.Val804Leu,ENST00000361908,NM_130836.2;OPA1,missense_variant,p.Val786Leu,ENST00000361715,NM_130835.2;OPA1,missense_variant,p.Val785Leu,ENST00000361828,NM_130832.2,NM_130834.2;OPA1,missense_variant,p.Val767Leu,ENST00000392438,NM_015560.2;OPA1,missense_variant,p.Val768Leu,ENST00000361150,NM_130833.2,NM_130831.2;OPA1,upstream_gene_variant,,ENST00000445863,;OPA1,non_coding_transcript_exon_variant,,ENST00000482865,;	T	ENST00000361908	Transcript	missense_variant	2644/6439	2410/2994	804/997	V/L	Gtg/Ttg		1		1	OPA1	HGNC	HGNC:8140	protein_coding	YES	CCDS33917.1	ENSP00000354681	O60313	E5KLJ7	UPI0000422960	NM_130836.2	tolerated(0.58)		24/30		hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF67																	MODERATE	1	SNV	1			1										PASS		rs1440910404	.												T	3	4	40	193659505	193659505	G	T	1	0	0	0	0	1	0	0	0	10948	1261	44	2		2	OPA1	3	193659505	Missense_Mutation	SNP	G	C3N-00180_TP	91809788	193659505	4636054	27	11569											
GAK	0	.	GRCh38	chr4	888860	888860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactcacttagcgacggactGgatgaccttggaggaggtgt	9	9	14	9	2	1	1	1	1	0	0	1	6	1	5	1	5	1	0	1	5	1	2	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.1192C>A	p.Gln398Lys	p.Q398K	ENST00000314167	11/28	181	121	60	278	278	0	strelka-varscan-mutect	GAK,missense_variant,p.Gln398Lys,ENST00000314167,NM_005255.2;GAK,missense_variant,p.Gln319Lys,ENST00000511163,NM_001318134.1,NM_001286833.1;GAK,intron_variant,,ENST00000618573,;GAK,non_coding_transcript_exon_variant,,ENST00000504435,;GAK,downstream_gene_variant,,ENST00000505819,;GAK,upstream_gene_variant,,ENST00000504947,;	T	ENST00000314167	Transcript	missense_variant	1303/4442	1192/3936	398/1311	Q/K	Cag/Aag		1		-1	GAK	HGNC	HGNC:4113	protein_coding	YES	CCDS3340.1	ENSP00000314499	O14976		UPI000012B04A	NM_005255.2	deleterious(0)		11/28		hmmpanther:PTHR23172:SF34,hmmpanther:PTHR23172																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	40	888860	888860	G	T	1	0	0	0	0	1	0	0	0	6063	1357	47	2		2	GAK	4	888860	Missense_Mutation	SNP	G	C3N-00180_TP		888860	189325695	28	11570											
ADGRL3	0	.	GRCh38	chr4	62070603	62070603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccaacgagcacacagaaGatctccagtcaccccataga	16	5	6	14	1	2	3	1	0	1	3	3	4	2	3	4	0	3	1	4	0	4	2	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.4105G>T	p.Asp1369Tyr	p.D1369Y	ENST00000514591	25/25	392	263	129	347	347	0	strelka-varscan-mutect	ADGRL3,missense_variant,p.Asp1369Tyr,ENST00000514591,NM_015236.4;ADGRL3,missense_variant,p.Asp1480Tyr,ENST00000506720,;ADGRL3,missense_variant,p.Asp1471Tyr,ENST00000506746,;ADGRL3,missense_variant,p.Asp1428Tyr,ENST00000507625,;ADGRL3,missense_variant,p.Asp1412Tyr,ENST00000508946,;ADGRL3,missense_variant,p.Asp1403Tyr,ENST00000514996,;ADGRL3,missense_variant,p.Asp818Tyr,ENST00000502815,;ADGRL3,3_prime_UTR_variant,,ENST00000512091,NM_001322246.1;ADGRL3,3_prime_UTR_variant,,ENST00000509896,;ADGRL3,3_prime_UTR_variant,,ENST00000511324,;ADGRL3,3_prime_UTR_variant,,ENST00000508693,;ADGRL3,3_prime_UTR_variant,,ENST00000507164,;ADGRL3,3_prime_UTR_variant,,ENST00000506700,;ADGRL3,3_prime_UTR_variant,,ENST00000504896,;ADGRL3,3_prime_UTR_variant,,ENST00000514157,;ADGRL3-AS1,downstream_gene_variant,,ENST00000506704,;ADGRL3-AS1,downstream_gene_variant,,ENST00000504135,;ADGRL3-AS1,downstream_gene_variant,,ENST00000509461,;	T	ENST00000514591	Transcript	missense_variant	4434/6297	4105/4410	1369/1469	D/Y	Gat/Tat		1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4	deleterious_low_confidence(0.02)		25/25		Pfam_domain:PF02354																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	40	62070603	62070603	G	T	1	0	0	0	0	1	0	0	0	377	942	33	2		2	ADGRL3	4	62070603	Missense_Mutation	SNP	G	C3N-00180_TP	61181743	62070603	128143952	29	11571											
USO1	0	.	GRCh38	chr4	75787087	75787087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgtgtattggtatctcccaCcaaccctcctggtgctacca	7	12	7	15	1	1	0	0	0	1	0	4	0	2	0	5	2	3	3	5	2	4	4			C3N-00180_TP	C3N-00180_NB	C	C																c.893C>T	p.Thr298Ile	p.T298I	ENST00000264904	11/26	99	62	37	117	117	0	strelka-varscan-mutect	USO1,missense_variant,p.Thr298Ile,ENST00000264904,NM_001290049.1;USO1,missense_variant,p.Thr294Ile,ENST00000514213,NM_003715.3;	T	ENST00000264904	Transcript	missense_variant	1115/4135	893/2922	298/973	T/I	aCc/aTc	COSM1486095,COSM1486096	1		1	USO1	HGNC	HGNC:30904	protein_coding	YES	CCDS77929.1	ENSP00000264904	O60763		UPI0001D1479E	NM_001290049.1	tolerated(0.09)		11/26		hmmpanther:PTHR10013											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												T	3	4	40	75787087	75787087	C	T	1	0	0	0	0	1	0	0	0	17573	507	18	3		3	USO1	4	75787087	Missense_Mutation	SNP	C	C3N-00180_TP	13716484	75787087	114427468	30	11572											
FRAS1	0	.	GRCh38	chr4	78540634	78540634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcacagctccactcagacGcaaccgaagggacctggtag	11	6	10	14	2	2	1	2	0	1	1	4	3	3	2	3	2	2	3	3	2	3	1	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.11549G>T	p.Arg3850Leu	p.R3850L	ENST00000512123	74/74	47	26	21	27	27	0	strelka-varscan-mutect	FRAS1,missense_variant,p.Arg3850Leu,ENST00000512123,NM_025074.6;	T	ENST00000512123	Transcript	missense_variant	11989/15624	11549/12039	3850/4012	R/L	cGc/cTc		1		1	FRAS1	HGNC	HGNC:19185	protein_coding	YES	CCDS54771.1	ENSP00000422834	Q86XX4		UPI000021D4C2	NM_025074.6	deleterious(0)		74/74		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF29																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	40	78540634	78540634	G	T	1	0	0	0	0	1	0	0	0	5908	1087	38	1		1	FRAS1	4	78540634	Missense_Mutation	SNP	G	C3N-00180_TP	2753547	78540634	111673921	31	11573											
RP11-766F14.2	0	.	GRCh38	chr4	99650164	99650164	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggcagctgaggagttgggGggcccctccctggaagcccc	5	6	17	13	0	0	1	0	1	0	0	1	3	1	3	5	6	2	3	5	6	1	1	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.4485C>G	p.=	p.P1495P	ENST00000511828	1/2	169	110	59	163	163	0	strelka-varscan-mutect	RP11-766F14.2,synonymous_variant,p.=,ENST00000511828,;	C	ENST00000511828	Transcript	synonymous_variant	4485/10086	4485/5382	1495/1793	P	ccC/ccG		1		-1	RP11-766F14.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000427555		D6RIA3	UPI0001D3B6FE				1/2																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	40	99650164	99650164	G	C	1	0	0	0	0	0	0	0	1	13762	1219	43	4		4	RP11-766F14.2	4	99650164	Silent	SNP	G	C3N-00180_TP	21109530	99650164	90564391	32	11574											
CENPE	0	.	GRCh38	chr4	103120228	103120228	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgaagttttgctattaTgtcattagtcacctcaagtt	9	17	8	7	0	3	1	3	1	0	0	3	1	3	1	1	1	1	4	1	1	5	7	novel		C3N-00180_TP	C3N-00180_NB	T	T																c.7249A>G	p.Ile2417Val	p.I2417V	ENST00000265148	44/49	128	77	51	259	259	0	strelka-varscan-mutect	CENPE,missense_variant,p.Ile2417Val,ENST00000265148,NM_001813.2;CENPE,missense_variant,p.Ile2380Val,ENST00000611174,;CENPE,missense_variant,p.Ile2296Val,ENST00000380026,NM_001286734.1;CENPE,non_coding_transcript_exon_variant,,ENST00000509823,;	C	ENST00000265148	Transcript	missense_variant	7339/8612	7249/8106	2417/2701	I/V	Ata/Gta		1		-1	CENPE	HGNC	HGNC:1856	protein_coding	YES	CCDS34042.1	ENSP00000265148	Q02224		UPI000020B28A	NM_001813.2	tolerated(0.89)		44/49		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	40	103120228	103120228	T	C	1	0	0	0	0	1	0	0	0	2938	1464	51	5		5	CENPE	4	103120228	Missense_Mutation	SNP	T	C3N-00180_TP	3470064	103120228	87094327	33	11575											
NDST3	0	.	GRCh38	chr4	118054337	118054337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttaaagtatataaatatgGattcctggaatcgaagcctt	14	15	7	5	1	0	0	0	0	0	0	2	3	1	2	2	2	1	1	2	2	9	8			C3N-00180_TP	C3N-00180_NB	G	G																c.427G>A	p.Asp143Asn	p.D143N	ENST00000296499	2/14	135	84	51	153	153	0	strelka-varscan-mutect	NDST3,missense_variant,p.Asp143Asn,ENST00000296499,NM_004784.2;NDST3,non_coding_transcript_exon_variant,,ENST00000394488,;	A	ENST00000296499	Transcript	missense_variant	830/5961	427/2622	143/873	D/N	Gat/Aat	COSM124699	1		1	NDST3	HGNC	HGNC:7682	protein_coding	YES	CCDS3708.1	ENSP00000296499	O95803		UPI0000071C44	NM_004784.2	tolerated(0.08)		2/14		Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF29											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	40	118054337	118054337	G	A	1	0	0	0	0	1	0	0	0	10278	1174	41	3		3	NDST3	4	118054337	Missense_Mutation	SNP	G	C3N-00180_TP	14934109	118054337	72160218	34	11576											
RXFP1	0	.	GRCh38	chr4	158633459	158633459	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttatattcaaggacctGaaggagctgtcacaattgta	12	11	9	9	1	2	1	2	1	0	0	2	3	2	3	2	2	1	3	2	2	6	5	rs577414448		C3N-00180_TP	C3N-00180_NB	G	G																c.1035G>T	p.=	p.L345L	ENST00000423548	12/18	100	83	17	162	162	0	strelka-varscan	RXFP1,synonymous_variant,p.=,ENST00000423548,NM_001253727.1;RXFP1,synonymous_variant,p.=,ENST00000448688,NM_001253733.1,NM_001253732.1;RXFP1,synonymous_variant,p.=,ENST00000307765,NM_021634.3;RXFP1,synonymous_variant,p.=,ENST00000613319,NM_001253730.1;RXFP1,synonymous_variant,p.=,ENST00000460056,;RXFP1,synonymous_variant,p.=,ENST00000470033,NM_001253728.1;RXFP1,intron_variant,,ENST00000343542,NM_001253729.1;RXFP1,3_prime_UTR_variant,,ENST00000342048,;RXFP1,3_prime_UTR_variant,,ENST00000471616,;	T	ENST00000423548	Transcript	synonymous_variant	1298/3930	1035/2355	345/784	L	ctG/ctT	rs577414448	1		1	RXFP1	HGNC	HGNC:19718	protein_coding	YES	CCDS75204.1	ENSP00000405841		B4DGP2	UPI00017A6DBF	NM_001253727.1			12/18		Gene3D:3.80.10.10,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF18,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	40	158633459	158633459	G	T	1	0	0	0	0	0	0	0	1	14020	1277	45	2		2	RXFP1	4	158633459	Silent	SNP	G	C3N-00180_TP	40579122	158633459	31581096	35	11577											
ZDHHC11	0	.	GRCh38	chr5	825185	825185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccgtcgaatccccatcCtggtttactgaagtgcagaa	9	10	10	12	3	0	2	0	1	0	1	3	3	2	2	4	1	3	2	4	1	4	2	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.1002G>T	p.Gln334His	p.Q334H	ENST00000283441	8/13	336	275	61	260	260	0	strelka-varscan-mutect	ZDHHC11,missense_variant,p.Gln334His,ENST00000283441,NM_024786.2;ZDHHC11,non_coding_transcript_exon_variant,,ENST00000503758,;ZDHHC11,non_coding_transcript_exon_variant,,ENST00000508951,;ZDHHC11,missense_variant,p.Gln195His,ENST00000507800,;	A	ENST00000283441	Transcript	missense_variant	1386/2604	1002/1239	334/412	Q/H	caG/caT		1		-1	ZDHHC11	HGNC	HGNC:19158	protein_coding	YES	CCDS3857.1	ENSP00000283441	Q9H8X9		UPI000013C384	NM_024786.2	tolerated_low_confidence(0.2)		8/13																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	40	825185	825185	C	A	1	0	0	0	0	1	0	0	0	18176	680	24	2		2	ZDHHC11	5	825185	Missense_Mutation	SNP	C	C3N-00180_TP		825185	180713074	36	11578											
C7	0	.	GRCh38	chr5	40964817	40964817	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atactctcttattggaaaccCagtggccagatgtggagaag	12	10	11	8	0	1	2	0	0	1	2	2	4	1	3	2	3	2	0	2	3	4	3	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.1826C>A	p.Pro609Gln	p.P609Q	ENST00000313164	14/18	174	119	55	312	312	0	strelka-varscan-mutect	C7,missense_variant,p.Pro609Gln,ENST00000313164,NM_000587.2;C7,non_coding_transcript_exon_variant,,ENST00000486779,;RP11-301A5.2,downstream_gene_variant,,ENST00000504890,;	A	ENST00000313164	Transcript	missense_variant	2185/4257	1826/2532	609/843	P/Q	cCa/cAa		1		1	C7	HGNC	HGNC:1346	protein_coding	YES	CCDS47201.1	ENSP00000322061	P10643		UPI000020CA08	NM_000587.2	deleterious(0)		14/18		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF389,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	40	40964817	40964817	C	A	1	0	0	0	0	1	0	0	0	2134	594	21	2		2	C7	5	40964817	Missense_Mutation	SNP	C	C3N-00180_TP	40139632	40964817	140573442	37	11579											
HCN1	0	.	GRCh38	chr5	45262426	45262426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagtgacagctgggaggcgGtgggggaggcatagtggaaa	10	6	21	4	1	0	2	0	2	0	0	0	5	0	5	0	7	1	2	0	7	2	1	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.2168C>A	p.Thr723Asn	p.T723N	ENST00000303230	8/8	133	85	48	92	92	0	strelka-varscan-mutect	HCN1,missense_variant,p.Thr723Asn,ENST00000303230,NM_021072.3;HCN1,non_coding_transcript_exon_variant,,ENST00000637305,;	T	ENST00000303230	Transcript	missense_variant	2409/9885	2168/2673	723/890	T/N	aCc/aAc		1		-1	HCN1	HGNC	HGNC:4845	protein_coding	YES	CCDS3952.1	ENSP00000307342	O60741		UPI00001AED69	NM_021072.3	tolerated_low_confidence(0.16)		8/8		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	40	45262426	45262426	G	T	1	0	0	0	0	1	0	0	0	6883	1261	44	2		2	HCN1	5	45262426	Missense_Mutation	SNP	G	C3N-00180_TP	4297609	45262426	136275833	38	11580											
BDP1	0	.	GRCh38	chr5	71467476	71467476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaactattactctaaaccatGgtcaaataaaggtaactaat	19	11	4	7	0	2	0	1	0	1	0	2	0	2	0	1	2	4	1	1	2	10	6	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.908G>T	p.Trp303Leu	p.W303L	ENST00000358731	6/39	169	96	73	213	213	0	strelka-varscan-mutect	BDP1,missense_variant,p.Trp303Leu,ENST00000358731,NM_018429.2;BDP1,missense_variant,p.Trp303Leu,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;	T	ENST00000358731	Transcript	missense_variant	1171/11073	908/7875	303/2624	W/L	tGg/tTg		1		1	BDP1	HGNC	HGNC:13652	protein_coding	YES	CCDS43328.1	ENSP00000351575	A6H8Y1		UPI000020CA90	NM_018429.2	deleterious(0)		6/39		hmmpanther:PTHR22929:SF1,hmmpanther:PTHR22929,Pfam_domain:PF15963,SMART_domains:SM00717,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	40	71467476	71467476	G	T	1	0	0	0	0	1	0	0	0	1542	1357	47	2		2	BDP1	5	71467476	Missense_Mutation	SNP	G	C3N-00180_TP	26205050	71467476	110070783	39	11581											
MAP1B	0	.	GRCh38	chr5	72186666	72186666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagctgctcgtgctgaccgGgcagtgctttgaaaataccg	9	9	12	11	3	0	2	0	2	0	0	1	2	0	2	2	1	5	5	2	1	4	2	rs763276687		C3N-00180_TP	C3N-00180_NB	G	G																c.422G>T	p.Gly141Val	p.G141V	ENST00000296755	4/7	200	115	85	217	217	0	strelka-varscan-mutect	MAP1B,missense_variant,p.Gly141Val,ENST00000296755,NM_001324255.1,NM_005909.3;MAP1B,missense_variant,p.Gly15Val,ENST00000504492,;MAP1B,missense_variant,p.Gly141Val,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000512974,;MAP1B,3_prime_UTR_variant,,ENST00000513526,;	T	ENST00000296755	Transcript	missense_variant	720/12036	422/7407	141/2468	G/V	gGg/gTg	rs763276687	1		1	MAP1B	HGNC	HGNC:6836	protein_coding	YES	CCDS4012.1	ENSP00000296755	P46821		UPI000013E382	NM_001324255.1,NM_005909.3	deleterious(0)		4/7		hmmpanther:PTHR13843:SF5,hmmpanther:PTHR13843																	MODERATE	1	SNV	2			1										PASS		rs763276687	.												T	3	4	40	72186666	72186666	G	T	1	0	0	0	0	1	0	0	0	9151	1232	43	2		2	MAP1B	5	72186666	Missense_Mutation	SNP	G	C3N-00180_TP	719190	72186666	109351593	40	11582											
KIAA0825	0	.	GRCh38	chr5	94520580	94520580	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtttattctgtatgtttTggtatttgattataacttct	9	22	6	4	0	2	1	0	1	2	0	2	1	2	1	0	1	1	4	0	1	5	11			C3N-00180_TP	C3N-00180_NB	T	T																c.638A>T	p.Gln213Leu	p.Q213L	ENST00000329378	5/5	94	67	27	109	109	0	strelka-varscan-mutect	KIAA0825,missense_variant,p.Gln213Leu,ENST00000513200,NM_001145678.1;KIAA0825,missense_variant,p.Gln213Leu,ENST00000329378,NM_173665.2;	A	ENST00000329378	Transcript	missense_variant	888/2262	638/975	213/324	Q/L	cAa/cTa	COSM3661999,COSM3662000,COSM3662001	1		-1	KIAA0825	HGNC	HGNC:28532	protein_coding	YES	CCDS4070.1	ENSP00000331385	Q8IV33		UPI00000746AF	NM_173665.2	deleterious(0)		5/5		hmmpanther:PTHR33960:SF1,hmmpanther:PTHR33960											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	40	94520580	94520580	T	A	1	0	0	0	0	1	0	0	0	8091	1812	63	4		4	KIAA0825	5	94520580	Missense_Mutation	SNP	T	C3N-00180_TP	22333914	94520580	87017679	41	11583											
DMXL1	0	.	GRCh38	chr5	119170217	119170217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatcagccagtaatcctaCagtttttaatttctacaatt	12	18	3	8	0	2	0	1	0	1	0	3	0	3	0	2	0	3	2	2	0	6	10	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.5426C>T	p.Thr1809Ile	p.T1809I	ENST00000539542	24/44	66	49	17	83	83	0	strelka-varscan-mutect	DMXL1,missense_variant,p.Thr1809Ile,ENST00000539542,NM_001290321.2;DMXL1,missense_variant,p.Thr1809Ile,ENST00000311085,NM_001290322.2,NM_005509.5;DMXL1,non_coding_transcript_exon_variant,,ENST00000504497,;DMXL1,upstream_gene_variant,,ENST00000507552,;	T	ENST00000539542	Transcript	missense_variant	5607/11236	5426/9147	1809/3048	T/I	aCa/aTa		1		1	DMXL1	HGNC	HGNC:2937	protein_coding	YES	CCDS75289.1	ENSP00000439479		F5H269	UPI000206568B	NM_001290321.2	tolerated(0.22)		24/44		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12,Pfam_domain:PF12234																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	40	119170217	119170217	C	T	1	0	0	0	0	1	0	0	0	4403	478	17	3		3	DMXL1	5	119170217	Missense_Mutation	SNP	C	C3N-00180_TP	24649637	119170217	62368042	42	11584											
PCDHA10	0	.	GRCh38	chr5	140857664	140857664	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggtgagcgcgcgcgatgGgggcgtgccgcctctgggca	4	5	19	13	6	1	1	0	1	1	0	1	2	1	1	3	4	2	1	3	4	0	0	rs201104305		C3N-00180_TP	C3N-00180_NB	G	G																c.1616G>C	p.Gly539Ala	p.G539A	ENST00000307360	1/4	989	546	443	896	896	0	strelka-varscan-mutect	PCDHA10,missense_variant,p.Gly539Ala,ENST00000562220,NM_031859.2;PCDHA10,missense_variant,p.Gly539Ala,ENST00000307360,NM_018901.3;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA9,downstream_gene_variant,,ENST00000378122,NM_014005.4;PCDHA14,upstream_gene_variant,,ENST00000506751,;	C	ENST00000307360	Transcript	missense_variant	1616/5254	1616/2847	539/948	G/A	gGg/gCg	rs201104305,COSM1645878,COSM336806	1		1	PCDHA10	HGNC	HGNC:8664	protein_coding	YES	CCDS54921.1	ENSP00000304234	Q9Y5I2		UPI00001273D3	NM_018901.3	tolerated_low_confidence(1)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF124,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs201104305	.												C	3	2	40	140857664	140857664	G	C	1	0	0	0	0	1	0	0	0	11607	1232	43	4		4	PCDHA10	5	140857664	Missense_Mutation	SNP	G	C3N-00180_TP	21687447	140857664	40680595	43	11585											
JAKMIP2	0	.	GRCh38	chr5	147620693	147620693	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtcaagagcttgtttTctgtagtctagttcttcctc	5	18	9	9	0	4	1	1	0	3	1	6	1	5	1	1	1	1	5	1	1	3	8	novel		C3N-00180_TP	C3N-00180_NB	T	T																c.2115A>G	p.=	p.R705R	ENST00000616793	18/22	119	75	44	217	217	0	strelka-varscan-mutect	JAKMIP2,synonymous_variant,p.=,ENST00000616793,NM_001270941.1;JAKMIP2,synonymous_variant,p.=,ENST00000265272,NM_014790.4;JAKMIP2,synonymous_variant,p.=,ENST00000507386,NM_001270934.1;JAKMIP2,synonymous_variant,p.=,ENST00000333010,NM_001282282.1;JAKMIP2-AS1,intron_variant,,ENST00000626945,;JAKMIP2-AS1,intron_variant,,ENST00000627433,;JAKMIP2-AS1,intron_variant,,ENST00000630514,;	C	ENST00000616793	Transcript	synonymous_variant	2656/9272	2115/2463	705/820	R	agA/agG		1		-1	JAKMIP2	HGNC	HGNC:29067	protein_coding	YES	CCDS75352.1	ENSP00000479248	Q96AA8		UPI0000E5AC9B	NM_001270941.1			18/22		hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF7																	LOW		SNV	5			1										PASS		.	.												C	2	2	40	147620693	147620693	T	C	1	0	0	0	0	0	0	0	1	7854	1780	62	5		5	JAKMIP2	5	147620693	Silent	SNP	T	C3N-00180_TP	6763029	147620693	33917566	44	11586											
ZNF300	0	.	GRCh38	chr5	150896651	150896651	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactcggtaggtcaatattTggttttaagttctttttaaa	11	18	7	5	1	2	0	1	0	1	0	3	0	2	0	0	3	1	3	0	3	7	9	rs763622160		C3N-00180_TP	C3N-00180_NB	T	T																c.636A>C	p.=	p.P212P	ENST00000446148	7/7	175	118	57	165	165	0	strelka-varscan-mutect	ZNF300,synonymous_variant,p.=,ENST00000446148,NM_001172831.1;ZNF300,synonymous_variant,p.=,ENST00000274599,NM_052860.2;ZNF300,synonymous_variant,p.=,ENST00000394226,;ZNF300,synonymous_variant,p.=,ENST00000418587,NM_001172832.1;ZNF300,3_prime_UTR_variant,,ENST00000427179,;IRGM,intron_variant,,ENST00000520549,;	G	ENST00000446148	Transcript	synonymous_variant	1064/3323	636/1863	212/620	P	ccA/ccC	rs763622160	1		-1	ZNF300	HGNC	HGNC:13091	protein_coding	YES	CCDS54940.1	ENSP00000397178	Q96RE9		UPI0001AE74AD	NM_001172831.1			7/7		hmmpanther:PTHR24377:SF320,hmmpanther:PTHR24377																	LOW	1	SNV	1			1										PASS		rs763622160	.												G	2	3	40	150896651	150896651	T	G	1	0	0	0	0	0	0	0	1	18406	1799	63	5		5	ZNF300	5	150896651	Silent	SNP	T	C3N-00180_TP	3275958	150896651	30641608	45	11587											
EYS	0	.	GRCh38	chr6	64813378	64813378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtaaataaatactgacCtgcagtcaaaagtatgtcca	15	10	9	7	0	1	1	1	1	0	0	2	1	2	1	2	1	2	3	2	1	8	4	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.3443G>T	p.Arg1148Ile	p.R1148I	ENST00000370621	22/44	51	26	25	183	183	0	strelka-mutect	EYS,missense_variant,p.Arg1148Ile,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Arg1148Ile,ENST00000370621,NM_001292009.1;	A	ENST00000370621	Transcript	missense_variant,splice_region_variant	3970/10485	3443/9498	1148/3165	R/I	aGa/aTa		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	tolerated(0.46)		22/44		Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		rs1334016191	.												A	3	1	40	64813378	64813378	C	A	1	0	0	0	0	1	0	0	0	5200	695	24	2		2	EYS	6	64813378	Missense_Mutation	SNP	C	C3N-00180_TP		64813378	105992601	46	11588											
MAP3K4	0	.	GRCh38	chr6	161111858	161111858	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatatcttccttacctcAtctggattaatcaaactggg	11	13	6	11	0	4	0	2	0	2	0	5	1	5	1	3	2	2	0	3	2	5	4	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.4419A>C	p.=	p.S1473S	ENST00000392142	24/27	139	86	53	159	159	0	strelka-varscan-mutect	MAP3K4,synonymous_variant,p.=,ENST00000392142,NM_005922.3,NM_001291958.1;MAP3K4,synonymous_variant,p.=,ENST00000366920,NM_001301072.1;MAP3K4,synonymous_variant,p.=,ENST00000366919,NM_006724.3;MAP3K4,synonymous_variant,p.=,ENST00000348824,;MAP3K4,3_prime_UTR_variant,,ENST00000490904,;MAP3K4,3_prime_UTR_variant,,ENST00000544041,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000536852,;MAP3K4,downstream_gene_variant,,ENST00000541901,;MAP3K4,downstream_gene_variant,,ENST00000544733,;MAP3K4,downstream_gene_variant,,ENST00000539610,;	C	ENST00000392142	Transcript	synonymous_variant	4567/5490	4419/4827	1473/1608	S	tcA/tcC		1		1	MAP3K4	HGNC	HGNC:6856	protein_coding	YES	CCDS34565.1	ENSP00000375986	Q9Y6R4		UPI00004574E1	NM_005922.3,NM_001291958.1			24/27		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF365,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	40	161111858	161111858	A	C	1	0	0	0	0	0	0	0	1	9175	204	8	5		5	MAP3K4	6	161111858	Silent	SNP	A	C3N-00180_TP	96298480	161111858	9694121	47	11589											
NUPL2	0	.	GRCh38	chr7	23182124	23182124	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcaaggccggtgccgCtttggagatcggtgctggaa	6	11	14	10	3	1	1	1	0	0	1	3	3	2	2	3	5	2	2	3	5	2	3	rs775237329		C3N-00180_TP	C3N-00180_NB	C	C																c.39C>A	p.=	p.R13R	ENST00000258742	1/7	287	184	103	259	259	0	strelka-varscan-mutect	NUPL2,synonymous_variant,p.=,ENST00000258742,NM_007342.2;NUPL2,synonymous_variant,p.=,ENST00000413919,;NUPL2,synonymous_variant,p.=,ENST00000410002,;KLHL7,downstream_gene_variant,,ENST00000339077,NM_001031710.2;NUPL2,non_coding_transcript_exon_variant,,ENST00000487595,;NUPL2,synonymous_variant,p.=,ENST00000438012,;NUPL2,synonymous_variant,p.=,ENST00000437140,;NUPL2,non_coding_transcript_exon_variant,,ENST00000485250,;NUPL2,non_coding_transcript_exon_variant,,ENST00000497500,;NUPL2,upstream_gene_variant,,ENST00000486136,;	A	ENST00000258742	Transcript	synonymous_variant	298/1795	39/1272	13/423	R	cgC/cgA	rs775237329	1		1	NUPL2	HGNC	HGNC:17010	protein_coding	YES	CCDS5379.1	ENSP00000258742	O15504		UPI0000072A3C	NM_007342.2			1/7		PROSITE_profiles:PS50103,hmmpanther:PTHR21495,hmmpanther:PTHR21495:SF45,SMART_domains:SM00356																	LOW	1	SNV	1			1										PASS		rs775237329	.												A	2	1	40	23182124	23182124	C	A	1	0	0	0	0	0	0	0	1	10840	784	28	2		2	NUPL2	7	23182124	Silent	SNP	C	C3N-00180_TP		23182124	136163849	48	11590											
POM121L12	0	.	GRCh38	chr7	53036247	53036247	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cccaagggaagcgctaggttCgacgggccgttgtggttcga	7	8	16	10	5	0	0	0	0	0	0	2	3	0	1	2	4	1	4	2	4	3	4	rs762091356		C3N-00180_TP	C3N-00180_NB	C	C																c.576C>G	p.Phe192Leu	p.F192L	ENST00000408890	1/1	366	240	126	323	323	0	strelka-varscan-mutect	POM121L12,missense_variant,p.Phe192Leu,ENST00000408890,NM_182595.3;	G	ENST00000408890	Transcript	missense_variant	606/1283	576/891	192/296	F/L	ttC/ttG	rs762091356,COSM3639636	1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3	tolerated(0.46)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30											0,1						MODERATE	1	SNV			0,1	1										PASS		rs762091356	.												G	3	3	40	53036247	53036247	C	G	1	0	0	0	0	1	0	0	0	12352	883	31	4		4	POM121L12	7	53036247	Missense_Mutation	SNP	C	C3N-00180_TP	29854123	53036247	106309726	49	11591											
PCLO	0	.	GRCh38	chr7	82916308	82916308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttgggtaggaagagcaGgggaagagtactggtattgt	10	10	18	3	0	0	2	0	0	0	2	0	4	0	4	0	5	3	5	0	5	5	5	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.11678C>G	p.Pro3893Arg	p.P3893R	ENST00000333891	7/25	246	152	94	199	199	0	strelka-varscan-mutect	PCLO,missense_variant,p.Pro3893Arg,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Pro3893Arg,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Pro613Arg,ENST00000437081,;	C	ENST00000333891	Transcript	missense_variant	12016/20329	11678/15429	3893/5142	P/R	cCt/cGt		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	deleterious(0)		7/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	40	82916308	82916308	G	C	1	0	0	0	0	1	0	0	0	11671	1000	35	4		4	PCLO	7	82916308	Missense_Mutation	SNP	G	C3N-00180_TP	29880061	82916308	76429665	50	11592											
LRCH4	0	.	GRCh38	chr7	100576002	100576002	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgctgcagccgggactCaaggacctggcagtgtagac	8	5	16	12	2	1	1	1	0	0	1	1	3	1	3	3	4	2	4	3	4	2	1	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.1645G>T	p.Glu549Ter	p.E549*	ENST00000310300	16/18	104	66	38	122	122	0	strelka-varscan-mutect	LRCH4,stop_gained,p.Glu549Ter,ENST00000310300,NM_002319.4,NM_001289934.1;LRCH4,stop_gained,p.Glu9Ter,ENST00000619071,;LRCH4,stop_gained,p.Glu97Ter,ENST00000497245,;LRCH4,stop_gained,p.Glu74Ter,ENST00000485554,;SAP25,upstream_gene_variant,,ENST00000622764,;SAP25,upstream_gene_variant,,ENST00000614631,;SAP25,upstream_gene_variant,,ENST00000538735,NM_001168682.1;LRCH4,non_coding_transcript_exon_variant,,ENST00000467201,;RP11-44M6.7,non_coding_transcript_exon_variant,,ENST00000485071,;LRCH4,non_coding_transcript_exon_variant,,ENST00000476881,;LRCH4,non_coding_transcript_exon_variant,,ENST00000490359,;LRCH4,downstream_gene_variant,,ENST00000498539,;LRCH4,downstream_gene_variant,,ENST00000487697,;SAP25,upstream_gene_variant,,ENST00000611464,;RP11-44M6.3,downstream_gene_variant,,ENST00000223076,;	A	ENST00000310300	Transcript	stop_gained	1698/2552	1645/2052	549/683	E/*	Gag/Tag		1		-1	LRCH4	HGNC	HGNC:6691	protein_coding	YES	CCDS34706.1	ENSP00000309689	O75427		UPI00000714CE	NM_002319.4,NM_001289934.1			16/18		PROSITE_profiles:PS50021,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	40	100576002	100576002	C	A	1	0	0	0	0	0	1	0	0	8829	835	29	2		2	LRCH4	7	100576002	Nonsense_Mutation	SNP	C	C3N-00180_TP	17659694	100576002	58769971	51	11593											
DOCK4	0	.	GRCh38	chr7	111877145	111877145	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccttggaaaagggaagtttGaggtagcgggtagtatcctg	10	10	15	6	1	0	1	0	1	0	0	1	3	1	3	2	4	1	4	2	4	6	5	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.1629C>G	p.=	p.L543L	ENST00000437633	17/52	72	54	18	123	123	0	strelka-varscan-mutect	DOCK4,synonymous_variant,p.=,ENST00000428084,;DOCK4,synonymous_variant,p.=,ENST00000437633,NM_014705.3;DOCK4,synonymous_variant,p.=,ENST00000445943,;DOCK4,synonymous_variant,p.=,ENST00000494651,;DOCK4,upstream_gene_variant,,ENST00000423057,;DOCK4,non_coding_transcript_exon_variant,,ENST00000476846,;DOCK4,upstream_gene_variant,,ENST00000492532,;	C	ENST00000437633	Transcript	synonymous_variant	1886/6212	1629/5901	543/1966	L	ctC/ctG		1		-1	DOCK4	HGNC	HGNC:19192	protein_coding	YES	CCDS47688.1	ENSP00000404179	Q8N1I0		UPI0000D5BB0D	NM_014705.3			17/52		PROSITE_profiles:PS51650,hmmpanther:PTHR23317:SF75,hmmpanther:PTHR23317,Pfam_domain:PF14429																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	40	111877145	111877145	G	C	1	0	0	0	0	0	0	0	1	4504	1277	45	4		4	DOCK4	7	111877145	Silent	SNP	G	C3N-00180_TP	11301143	111877145	47468828	52	11594											
KCND2	0	.	GRCh38	chr7	120275186	120275186	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaccagcacgatggcccTggtgttctactatgtcacgg	8	9	10	14	2	2	0	1	0	1	0	2	1	2	0	3	3	2	2	3	3	2	3	novel		C3N-00180_TP	C3N-00180_NB	T	T																c.554T>A	p.Leu185Gln	p.L185Q	ENST00000331113	1/6	196	108	88	134	134	0	strelka-varscan-mutect	KCND2,missense_variant,p.Leu185Gln,ENST00000331113,NM_012281.2;	A	ENST00000331113	Transcript	missense_variant	1519/5331	554/1893	185/630	L/Q	cTg/cAg		1		1	KCND2	HGNC	HGNC:6238	protein_coding	YES	CCDS5776.1	ENSP00000333496	Q9NZV8	A4D0V9	UPI0000073D37	NM_012281.2	tolerated(0.17)		1/6		Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF159,Gene3D:1.20.120.350,Superfamily_domains:SSF81324,Prints_domain:PR00169,Prints_domain:PR01497																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	40	120275186	120275186	T	A	1	0	0	0	0	1	0	0	0	7935	1580	55	4		4	KCND2	7	120275186	Missense_Mutation	SNP	T	C3N-00180_TP	8398041	120275186	39070787	53	11595											
ERICH1	0	.	GRCh38	chr8	673427	673427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcaccctcttcctccccagCccatgtcgggtcttcctcgc	3	11	7	20	2	2	0	0	0	2	0	7	0	5	0	6	1	2	1	6	1	0	2	rs750406908		C3N-00180_TP	C3N-00180_NB	C	C																c.925G>T	p.Ala309Ser	p.A309S	ENST00000262109	4/6	350	228	122	480	480	0	strelka-varscan-mutect	ERICH1,missense_variant,p.Ala78Ser,ENST00000522893,;ERICH1,missense_variant,p.Ala309Ser,ENST00000262109,NM_207332.2;ERICH1,missense_variant,p.Ala215Ser,ENST00000522706,;ERICH1,non_coding_transcript_exon_variant,,ENST00000518895,;ERICH1,downstream_gene_variant,,ENST00000518277,;ERICH1,downstream_gene_variant,,ENST00000524138,;ERICH1,downstream_gene_variant,,ENST00000518313,;ERICH1,upstream_gene_variant,,ENST00000523415,;ERICH1,upstream_gene_variant,,ENST00000523053,;	A	ENST00000262109	Transcript	missense_variant	1003/1813	925/1332	309/443	A/S	Gct/Tct	rs750406908	1		-1	ERICH1	HGNC	HGNC:27234	protein_coding	YES	CCDS5955.1	ENSP00000262109	Q86X53		UPI000000DB6B	NM_207332.2	tolerated(0.42)		4/6		Low_complexity_(Seg):seg,hmmpanther:PTHR22444:SF1,hmmpanther:PTHR22444																	MODERATE	1	SNV	1			1										PASS		rs750406908	.												A	3	1	40	673427	673427	C	A	1	0	0	0	0	1	0	0	0	5081	739	26	2		2	ERICH1	8	673427	Missense_Mutation	SNP	C	C3N-00180_TP		673427	144465209	54	11596											
ZFHX4	0	.	GRCh38	chr8	76852805	76852805	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttccaatgttcttattttaAagagtcaccaagaacatgta	14	15	5	7	0	2	2	1	0	1	2	3	2	3	2	2	0	1	2	2	0	7	6	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.5884A>T	p.Lys1962Ter	p.K1962*	ENST00000521891	10/11	96	66	30	124	124	0	strelka-varscan-mutect	ZFHX4,stop_gained,p.Lys1962Ter,ENST00000521891,NM_024721.4;ZFHX4,stop_gained,p.Lys1936Ter,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;	T	ENST00000521891	Transcript	stop_gained	6332/14019	5884/10851	1962/3616	K/*	Aag/Tag		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4			10/11		PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	40	76852805	76852805	A	T	1	0	0	0	0	0	1	0	0	18213	15	1	4		4	ZFHX4	8	76852805	Nonsense_Mutation	SNP	A	C3N-00180_TP	76179378	76852805	68285831	55	11597											
PEX2	0	.	GRCh38	chr8	76984086	76984086	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaactgggaccaaactagCtgctccagggccttgtttag	10	10	11	10	0	0	0	0	0	0	0	1	1	1	1	3	2	4	4	3	2	5	5	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.93G>A	p.=	p.Q31Q	ENST00000357039	4/4	100	62	38	67	67	0	strelka-varscan-mutect	PEX2,synonymous_variant,p.=,ENST00000357039,NM_000318.2,NM_001172086.1;PEX2,synonymous_variant,p.=,ENST00000522527,NM_001079867.1;PEX2,synonymous_variant,p.=,ENST00000520103,NM_001172087.1;PEX2,synonymous_variant,p.=,ENST00000518986,;PEX2,downstream_gene_variant,,ENST00000519956,;PEX2,downstream_gene_variant,,ENST00000520203,;	T	ENST00000357039	Transcript	synonymous_variant	489/4317	93/918	31/305	Q	caG/caA		1		-1	PEX2	HGNC	HGNC:9717	protein_coding	YES	CCDS6221.1	ENSP00000349543	P28328		UPI000013E3FB	NM_000318.2,NM_001172086.1			4/4		PD124462,Pfam_domain:PF04757																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	40	76984086	76984086	C	T	1	0	0	0	0	0	0	0	1	11835	796	28	3		3	PEX2	8	76984086	Silent	SNP	C	C3N-00180_TP	131281	76984086	68154550	56	11598											
SPATC1	0	.	GRCh38	chr8	144041264	144041264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcctgggagaggctggtgGgtgagattgccttccagctg	5	10	18	8	0	0	2	0	1	0	2	1	4	1	2	3	5	2	2	3	5	0	2	rs367672859		C3N-00180_TP	C3N-00180_NB	G	G																c.1339G>T	p.Gly447Cys	p.G447C	ENST00000377470	4/5	174	117	57	224	224	0	strelka-varscan-mutect	SPATC1,missense_variant,p.Gly447Cys,ENST00000377470,NM_198572.2;SPATC1,intron_variant,,ENST00000447830,NM_001134374.1;	T	ENST00000377470	Transcript	missense_variant	1441/2007	1339/1776	447/591	G/C	Ggt/Tgt	rs367672859	1		1	SPATC1	HGNC	HGNC:30510	protein_coding	YES	CCDS6413.2	ENSP00000366690	Q76KD6		UPI00001D8243	NM_198572.2	deleterious(0)		4/5		Pfam_domain:PF15059,hmmpanther:PTHR22192,hmmpanther:PTHR22192:SF16																	MODERATE	1	SNV	1			1										PASS		rs367672859	.												T	3	4	40	144041264	144041264	G	T	1	0	0	0	0	1	0	0	0	15362	1232	43	2		2	SPATC1	8	144041264	Missense_Mutation	SNP	G	C3N-00180_TP	67057178	144041264	1097372	57	11599											
OR13C2	0	.	GRCh38	chr9	104605115	104605115	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaaatgattgatgatgttAttcctgcagaaaggcaattg	13	13	11	4	0	0	5	0	4	0	1	1	5	1	5	1	1	1	3	1	1	4	4			C3N-00180_TP	C3N-00180_NB	A	A																c.513T>A	p.Asn171Lys	p.N171K	ENST00000542196	1/1	51	45	6	133	132	1	varscan-mutect	OR13C2,missense_variant,p.Asn171Lys,ENST00000542196,NM_001004481.1;	T	ENST00000542196	Transcript	missense_variant	513/957	513/957	171/318	N/K	aaT/aaA	COSM5652172	1		-1	OR13C2	HGNC	HGNC:14701	protein_coding	YES	CCDS35092.1	ENSP00000438815	Q8NGS9	A0A126GWR7	UPI0000041B29	NM_001004481.1	tolerated(0.18)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF279,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	40	104605115	104605115	A	T	1	0	0	0	0	1	0	0	0	11010	446	16	4		4	OR13C2	9	104605115	Missense_Mutation	SNP	A	C3N-00180_TP		104605115	33789602	58	11600											
PTCHD3	0	.	GRCh38	chr10	27398781	27398781	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacaaaacatatataaagActacaaaatacttggactca	20	10	4	7	0	1	1	1	0	0	1	1	2	1	2	0	1	4	1	0	1	11	7	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.1817T>C	p.Val606Ala	p.V606A	ENST00000438700	4/4	219	127	92	281	281	0	strelka-varscan-mutect	PTCHD3,missense_variant,p.Val606Ala,ENST00000438700,NM_001034842.3;PTCHD3,intron_variant,,ENST00000622555,;	G	ENST00000438700	Transcript	missense_variant	1935/2529	1817/2304	606/767	V/A	gTc/gCc		1		-1	PTCHD3	HGNC	HGNC:24776	protein_coding	YES	CCDS31173.1	ENSP00000417658	Q3KNS1		UPI000004E892	NM_001034842.3	deleterious(0)		4/4		Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	40	27398781	27398781	A	G	1	0	0	0	0	1	0	0	0	12886	275	10	5		5	PTCHD3	10	27398781	Missense_Mutation	SNP	A	C3N-00180_TP		27398781	106398641	59	11601											
FAM21C	0	.	GRCh38	chr10	45759354	45759354	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatctcaagccctcatcaGaaacaaagactcaaaaaggc	20	5	5	11	0	4	2	4	0	1	2	5	2	4	2	1	1	2	0	1	1	7	0	rs782615615		C3N-00180_TP	C3N-00180_NB	G	G																c.1588G>T	p.Glu530Ter	p.E530*	ENST00000374362	17/30	278	211	67	366	366	0	strelka-varscan-mutect	FAM21C,stop_gained,p.Glu530Ter,ENST00000336378,;FAM21C,stop_gained,p.Glu530Ter,ENST00000374362,NM_015262.2;FAM21C,stop_gained,p.Glu530Ter,ENST00000623400,;FAM21C,stop_gained,p.Glu530Ter,ENST00000540872,NM_001169106.1;FAM21C,stop_gained,p.Glu474Ter,ENST00000359860,;FAM21C,stop_gained,p.Glu506Ter,ENST00000537517,NM_001169107.1;	T	ENST00000374362	Transcript	stop_gained	1687/4623	1588/3963	530/1320	E/*	Gaa/Taa	rs782615615	1		1	FAM21C	HGNC	HGNC:23414	protein_coding	YES	CCDS44374.2	ENSP00000363482	Q9Y4E1		UPI0000551BE9	NM_015262.2			17/30																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	40	45759354	45759354	G	T	1	0	0	0	0	0	1	0	0	5412	943	33	2		2	FAM21C	10	45759354	Nonsense_Mutation	SNP	G	C3N-00180_TP	18360573	45759354	88038068	60	11602											
SORCS1	0	.	GRCh38	chr10	106597444	106597444	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtgtggatcagcaattCtgatatctgaaaaaagaagc	15	9	11	6	1	3	3	1	2	2	1	3	5	3	4	0	1	3	1	0	1	6	2	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.3172G>T	p.Glu1058Ter	p.E1058*	ENST00000263054	24/26	249	154	95	213	213	0	strelka-varscan-mutect	SORCS1,stop_gained,p.Glu1058Ter,ENST00000263054,NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1;SORCS1,stop_gained,p.Glu816Ter,ENST00000612154,;SORCS1,stop_gained,p.Glu816Ter,ENST00000622431,;SORCS1,stop_gained,p.Glu816Ter,ENST00000344440,;SORCS1,stop_gained,p.Glu593Ter,ENST00000369698,;SORCS1,stop_gained,p.Glu73Ter,ENST00000452214,;SORCS1,downstream_gene_variant,,ENST00000478809,;SORCS1,non_coding_transcript_exon_variant,,ENST00000473866,;	A	ENST00000263054	Transcript	stop_gained	3180/7272	3172/3507	1058/1168	E/*	Gaa/Taa		1		-1	SORCS1	HGNC	HGNC:16697	protein_coding	YES	CCDS7559.1	ENSP00000263054	Q8WY21		UPI00001AE866	NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1			24/26		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF8																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	40	106597444	106597444	C	A	1	0	0	0	0	0	1	0	0	15252	922	32	2		2	SORCS1	10	106597444	Nonsense_Mutation	SNP	C	C3N-00180_TP	60838090	106597444	27199978	61	11603											
PIDD1	0	.	GRCh38	chr11	801298	801299	+	Frame_Shift_Ins	INS	-	-	G																															gctctgtgacaggcacagcaINSgggggctcactgcagcctct																								novel		C3N-00180_TP	C3N-00180_NB	-	-																c.1549dupC	p.Leu517ProfsTer50	p.L517Pfs*50	ENST00000347755	9/16	33	29	4	97	97	0	sindel-pindel	PIDD1,frameshift_variant,p.Leu517ProfsTer50,ENST00000347755,NM_145886.3;PIDD1,frameshift_variant,p.Leu517ProfsTer50,ENST00000411829,NM_145887.3;SLC25A22,upstream_gene_variant,,ENST00000628067,NM_001191061.1;SLC25A22,upstream_gene_variant,,ENST00000531214,NM_001191060.1;PANO1,downstream_gene_variant,,ENST00000620120,NM_001293167.1;SLC25A22,upstream_gene_variant,,ENST00000532484,;SLC25A22,upstream_gene_variant,,ENST00000531437,;SLC25A22,upstream_gene_variant,,ENST00000530360,;PIDD1,intron_variant,,ENST00000527812,;PIDD1,downstream_gene_variant,,ENST00000534649,;PIDD1,downstream_gene_variant,,ENST00000530911,;PIDD1,downstream_gene_variant,,ENST00000528122,;PIDD1,frameshift_variant,p.Leu234ProfsTer50,ENST00000531286,;PIDD1,3_prime_UTR_variant,,ENST00000524486,;PIDD1,3_prime_UTR_variant,,ENST00000525028,;PIDD1,non_coding_transcript_exon_variant,,ENST00000527357,;PIDD1,non_coding_transcript_exon_variant,,ENST00000534525,;SLC25A22,upstream_gene_variant,,ENST00000529351,;SLC25A22,upstream_gene_variant,,ENST00000531514,;SLC25A22,upstream_gene_variant,,ENST00000524891,;	G	ENST00000347755	Transcript	frameshift_variant	1691-1692/2998	1549-1550/2733	517/910	L/PX	ctg/cCtg		1		-1	PIDD1	HGNC	HGNC:16491	protein_coding	YES	CCDS7716.1	ENSP00000337797	Q9HB75		UPI000045644A	NM_145886.3			9/16		Pfam_domain:PF00791,PROSITE_profiles:PS51145																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	40	801298	801298	-	G	1	0	1	1	0	0	0	0	0	11973	188	7	0		0	PIDD1	11	801298	Frame_Shift_Ins	INS	-	C3N-00180_TP		801298	134285324	62	11604											
MUC5B	0	.	GRCh38	chr11	1245035	1245035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacacctatccccccagtgCtgaccaccaccgccaccaca	11	4	4	22	1	0	1	0	1	0	0	1	1	1	1	9	0	2	1	9	0	2	1	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.8155C>A	p.Leu2719Met	p.L2719M	ENST00000529681	31/49	252	238	14	367	367	0	varscan-mutect	MUC5B,missense_variant,p.Leu2719Met,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;	A	ENST00000529681	Transcript	missense_variant	8213/17911	8155/17289	2719/5762	L/M	Ctg/Atg		1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2	tolerated(0.09)		31/49		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs781567544	.												A	3	1	40	1245035	1245035	C	A	1	0	0	0	0	1	0	0	0	9979	796	28	2		2	MUC5B	11	1245035	Missense_Mutation	SNP	C	C3N-00180_TP	443737	1245035	133841587	63	11605											
MUC5B	0	.	GRCh38	chr11	1248806	1248806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacacctatccccccagtgCtgaccaccaccgccaccaca	11	4	4	22	1	0	1	0	1	0	0	1	1	1	1	9	0	2	1	9	0	2	1	rs562058210		C3N-00180_TP	C3N-00180_NB	C	C																c.11926C>A	p.Leu3976Met	p.L3976M	ENST00000529681	31/49	167	66	101	262	262	0	strelka-varscan-mutect	MUC5B,missense_variant,p.Leu3976Met,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;	A	ENST00000529681	Transcript	missense_variant	11984/17911	11926/17289	3976/5762	L/M	Ctg/Atg	rs562058210	1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2	tolerated(0.19)		31/49		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs562058210	.												A	3	1	40	1248806	1248806	C	A	1	0	0	0	0	1	0	0	0	9979	796	28	2		2	MUC5B	11	1248806	Missense_Mutation	SNP	C	C3N-00180_TP	3771	1248806	133837816	64	11606											
TRPM5	0	.	GRCh38	chr11	2423009	2423009	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcatccccggggcttcCgggacgggggccttggacat	5	8	15	13	3	1	0	1	0	0	0	3	2	3	2	4	6	1	2	4	6	0	3	rs139404126		C3N-00180_TP	C3N-00180_NB	C	C																c.28G>T	p.Gly10Ter	p.G10*	ENST00000155858	1/24	100	39	61	261	261	0	strelka-varscan-mutect	TRPM5,stop_gained,p.Gly10Ter,ENST00000155858,NM_014555.3;TRPM5,stop_gained,p.Gly2Ter,ENST00000533881,;TRPM5,stop_gained,p.Gly10Ter,ENST00000533060,;TRPM5,stop_gained,p.Gly10Ter,ENST00000528453,;	A	ENST00000155858	Transcript	stop_gained	37/3929	28/3498	10/1165	G/*	Gga/Tga	rs139404126	1		-1	TRPM5	HGNC	HGNC:14323	protein_coding	YES	CCDS31340.1	ENSP00000155858	Q9NZQ8		UPI000003B069	NM_014555.3			1/24																			HIGH	1	SNV	1			1										PASS		rs139404126	.												A	4	1	40	2423009	2423009	C	A	1	0	0	0	0	0	1	0	0	17095	661	23	1		1	TRPM5	11	2423009	Nonsense_Mutation	SNP	C	C3N-00180_TP	1174203	2423009	132663613	65	11607											
RRP8	0	.	GRCh38	chr11	6601465	6601465	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgaggtggctgaaactTgttcttacatcttctcttgt	7	16	8	10	0	3	2	0	2	3	0	4	2	3	2	1	2	2	2	1	2	2	5	rs763055185		C3N-00180_TP	C3N-00180_NB	T	T																c.601A>T	p.Lys201Ter	p.K201*	ENST00000254605	3/7	622	146	476	355	355	0	strelka-varscan-mutect	RRP8,stop_gained,p.Lys201Ter,ENST00000254605,NM_015324.3;RRP8,intron_variant,,ENST00000534343,;ILK,upstream_gene_variant,,ENST00000396751,NM_001014795.2;ILK,upstream_gene_variant,,ENST00000299421,NM_001014794.2,NM_004517.3;ILK,upstream_gene_variant,,ENST00000537806,;ILK,upstream_gene_variant,,ENST00000420936,;ILK,upstream_gene_variant,,ENST00000532063,NM_001278442.1;ILK,upstream_gene_variant,,ENST00000528995,NM_001278441.1;ILK,upstream_gene_variant,,ENST00000526318,;ILK,upstream_gene_variant,,ENST00000627400,;RP11-732A19.8,downstream_gene_variant,,ENST00000527191,;ILK,upstream_gene_variant,,ENST00000534565,;RRP8,stop_gained,p.Lys201Ter,ENST00000533907,;RRP8,3_prime_UTR_variant,,ENST00000530762,;TAF10,downstream_gene_variant,,ENST00000616342,;ILK,upstream_gene_variant,,ENST00000530016,;ILK,upstream_gene_variant,,ENST00000526711,;RRP8,upstream_gene_variant,,ENST00000526352,;ILK,upstream_gene_variant,,ENST00000527121,;ILK,upstream_gene_variant,,ENST00000526114,;	A	ENST00000254605	Transcript	stop_gained	719/6560	601/1371	201/456	K/*	Aag/Tag	rs763055185	1		-1	RRP8	HGNC	HGNC:29030	protein_coding	YES	CCDS31411.1	ENSP00000254605	O43159		UPI00001580F8	NM_015324.3			3/7		hmmpanther:PTHR12787,hmmpanther:PTHR12787:SF0,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		rs763055185	.												A	4	1	40	6601465	6601465	T	A	1	0	0	0	0	0	1	0	0	13946	1821	63	4		4	RRP8	11	6601465	Nonsense_Mutation	SNP	T	C3N-00180_TP	4178456	6601465	128485157	66	11608											
FBXO3	0	.	GRCh38	chr11	33768870	33768870	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctttcagagataaaaccatCcgaggacacctgggctccaa	13	7	8	13	1	1	1	1	0	0	1	3	4	3	2	5	2	1	1	5	2	3	2	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.339G>T	p.=	p.R113R	ENST00000265651	3/11	124	76	48	128	128	0	strelka-varscan-mutect	FBXO3,synonymous_variant,p.=,ENST00000530401,;FBXO3,synonymous_variant,p.=,ENST00000534136,;FBXO3,synonymous_variant,p.=,ENST00000265651,NM_012175.3;FBXO3,synonymous_variant,p.=,ENST00000448981,NM_033406.2;FBXO3,5_prime_UTR_variant,,ENST00000526785,;FBXO3,non_coding_transcript_exon_variant,,ENST00000533103,;FBXO3,non_coding_transcript_exon_variant,,ENST00000526952,;FBXO3,synonymous_variant,p.=,ENST00000532927,;FBXO3,synonymous_variant,p.=,ENST00000529137,;FBXO3,non_coding_transcript_exon_variant,,ENST00000530013,;	A	ENST00000265651	Transcript	synonymous_variant	358/2397	339/1416	113/471	R	cgG/cgT		1		-1	FBXO3	HGNC	HGNC:13582	protein_coding	YES	CCDS7887.1	ENSP00000265651	Q9UK99		UPI000000DB30	NM_012175.3			3/11		hmmpanther:PTHR14289,hmmpanther:PTHR14289:SF16,Superfamily_domains:SSF160631																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	40	33768870	33768870	C	A	1	0	0	0	0	0	0	0	1	5602	842	30	2		2	FBXO3	11	33768870	Silent	SNP	C	C3N-00180_TP	27167405	33768870	101317752	67	11609											
TRIM49	0	.	GRCh38	chr11	89798596	89798596	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcatacagaaagatatcaTtgttggcttcttcatgatgc	11	16	7	7	0	4	3	3	1	1	2	4	3	4	3	0	1	2	2	0	1	3	7	rs672762		C3N-00180_TP	C3N-00180_NB	T	T																c.893A>G	p.Asn298Ser	p.N298S	ENST00000329758	8/8	39	31	8	122	122	0	strelka-varscan	TRIM49,missense_variant,p.Asn298Ser,ENST00000329758,NM_020358.2;TRIM49,missense_variant,p.Asn221Ser,ENST00000532501,;	C	ENST00000329758	Transcript	missense_variant	1222/2163	893/1359	298/452	N/S	aAt/aGt	rs672762	1		-1	TRIM49	HGNC	HGNC:13431	protein_coding	YES	CCDS8287.1	ENSP00000327604	P0CI25		UPI000013431B	NM_020358.2	tolerated(1)		8/8		Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	40	89798596	89798596	T	C	1	0	0	0	0	1	0	0	0	17014	1493	52	5		5	TRIM49	11	89798596	Missense_Mutation	SNP	T	C3N-00180_TP	56029726	89798596	45288026	68	11610			1	9		2	2	17	N	T_G	6.165086e-05
TRIM49	0	.	GRCh38	chr11	89798612	89798612	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcattgttggcttcttcatGatgcagagtaatatgcactg	10	15	9	7	0	3	2	2	1	1	1	3	2	3	2	0	1	2	5	0	1	2	6	rs149578071		C3N-00180_TP	C3N-00180_NB	G	G																c.877C>G	p.His293Asp	p.H293D	ENST00000329758	8/8	37	32	5	103	102	1	strelka-varscan	TRIM49,missense_variant,p.His293Asp,ENST00000329758,NM_020358.2;TRIM49,missense_variant,p.His216Asp,ENST00000532501,;	C	ENST00000329758	Transcript	missense_variant	1206/2163	877/1359	293/452	H/D	Cat/Gat	rs149578071	1		-1	TRIM49	HGNC	HGNC:13431	protein_coding	YES	CCDS8287.1	ENSP00000327604	P0CI25		UPI000013431B	NM_020358.2	tolerated(0.21)		8/8		Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	40	89798612	89798612	G	C	1	0	0	0	0	1	0	0	0	17014	1290	45	4		4	TRIM49	11	89798612	Missense_Mutation	SNP	G	C3N-00180_TP	16	89798612	45288010	69	11611			1	9		2	2	17	N	T_G	6.165086e-05
FAT3	0	.	GRCh38	chr11	92524787	92524787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacaatgccccgctgacctCagaacctatatattatcctg	11	11	6	13	1	1	3	1	2	0	1	2	3	2	3	5	0	2	1	5	0	6	4	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.2996C>T	p.Ser999Leu	p.S999L	ENST00000525166	2/27	531	96	435	425	425	0	strelka-varscan-mutect	FAT3,missense_variant,p.Ser1149Leu,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Ser999Leu,ENST00000525166,;FAT3,non_coding_transcript_exon_variant,,ENST00000528921,;	T	ENST00000525166	Transcript	missense_variant	3018/18699	2996/13320	999/4439	S/L	tCa/tTa		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		deleterious(0.02)		2/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	40	92524787	92524787	C	T	1	0	0	0	0	1	0	0	0	5551	838	29	3		3	FAT3	11	92524787	Missense_Mutation	SNP	C	C3N-00180_TP	2726175	92524787	42561835	70	11612											
SORL1	0	.	GRCh38	chr11	121545423	121545423	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctgcacccgggaggactAtgagtggtcagttcttcttt	6	13	11	11	1	3	1	1	1	2	0	4	3	4	3	2	3	1	2	2	3	1	4	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.2045A>G	p.Tyr682Cys	p.Y682C	ENST00000260197	14/48	203	36	167	117	117	0	strelka-varscan-mutect	SORL1,missense_variant,p.Tyr682Cys,ENST00000260197,NM_003105.5;SORL1,non_coding_transcript_exon_variant,,ENST00000532451,;	G	ENST00000260197	Transcript	missense_variant	2174/10904	2045/6645	682/2214	Y/C	tAt/tGt		1		1	SORL1	HGNC	HGNC:11185	protein_coding	YES	CCDS8436.1	ENSP00000260197	Q92673		UPI000013D0B1	NM_003105.5	deleterious(0)		14/48		Pfam_domain:PF15901,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,SMART_domains:SM00602																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	40	121545423	121545423	A	G	1	0	0	0	0	1	0	0	0	15256	449	16	5		5	SORL1	11	121545423	Missense_Mutation	SNP	A	C3N-00180_TP	29020636	121545423	13541199	71	11613											
OR8B3	0	.	GRCh38	chr11	124397195	124397195	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggtgtgtggaggtgagAatttagaccgaaaagaatga	14	10	14	3	1	0	4	0	2	0	3	0	7	0	5	1	3	0	0	1	3	5	3	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.157T>A	p.Ser53Thr	p.S53T	ENST00000354597	1/1	328	148	180	203	203	0	strelka-varscan-mutect	OR8B3,missense_variant,p.Ser53Thr,ENST00000354597,NM_001005467.1;	T	ENST00000354597	Transcript	missense_variant	174/987	157/942	53/313	S/T	Tct/Act		1		-1	OR8B3	HGNC	HGNC:8472	protein_coding	YES	CCDS31709.1	ENSP00000346611	Q8NGG8		UPI000004B9C9	NM_001005467.1	deleterious_low_confidence(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF258,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	40	124397195	124397195	A	T	1	0	0	0	0	1	0	0	0	11298	246	9	4		4	OR8B3	11	124397195	Missense_Mutation	SNP	A	C3N-00180_TP	2851772	124397195	10689427	72	11614											
B3GAT1	0	.	GRCh38	chr11	134384099	134384099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtacacgtactcggtgcGcaccacctccacgatgtcgc	7	8	10	16	6	0	0	0	0	0	0	3	1	1	0	3	1	3	3	3	1	2	2			C3N-00180_TP	C3N-00180_NB	G	G																c.202C>A	p.Arg68Ser	p.R68S	ENST00000524765	3/6	212	30	182	80	80	0	strelka-mutect	B3GAT1,missense_variant,p.Arg68Ser,ENST00000524765,;B3GAT1,missense_variant,p.Arg68Ser,ENST00000312527,NM_054025.2;B3GAT1,missense_variant,p.Arg68Ser,ENST00000392580,NM_018644.3;B3GAT1,non_coding_transcript_exon_variant,,ENST00000531510,;B3GAT1,non_coding_transcript_exon_variant,,ENST00000531778,;	T	ENST00000524765	Transcript	missense_variant	4747/5737	202/1005	68/334	R/S	Cgc/Agc	COSM1352790,COSM3738963	1		-1	B3GAT1	HGNC	HGNC:921	protein_coding	YES	CCDS8500.1	ENSP00000433847	Q9P2W7		UPI0000073281		deleterious(0.01)		3/6		hmmpanther:PTHR10896,hmmpanther:PTHR10896:SF21											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												T	3	4	40	134384099	134384099	G	T	1	0	0	0	0	1	0	0	0	1409	1087	38	1		1	B3GAT1	11	134384099	Missense_Mutation	SNP	G	C3N-00180_TP	9986904	134384099	702523	73	11615											
SLCO1C1	0	.	GRCh38	chr12	20699608	20699608	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaaagaaaatatccagtTgttctgcaaaacttcagtgc	15	11	6	9	0	2	1	1	0	1	1	4	1	4	1	2	0	3	3	2	0	6	4	novel		C3N-00180_TP	C3N-00180_NB	T	T																c.32T>A	p.Leu11Ter	p.L11*	ENST00000545604	3/16	124	78	46	192	192	0	strelka-varscan-mutect	SLCO1C1,stop_gained,p.Leu11Ter,ENST00000266509,NM_017435.4;SLCO1C1,stop_gained,p.Leu11Ter,ENST00000545604,NM_001145946.1;SLCO1C1,stop_gained,p.Leu11Ter,ENST00000540354,NM_001145945.1;SLCO1C1,intron_variant,,ENST00000545102,NM_001145944.1;SLCO1C1,downstream_gene_variant,,ENST00000535609,;SLCO1C1,downstream_gene_variant,,ENST00000534996,;SLCO1C1,downstream_gene_variant,,ENST00000539443,;SLCO1C1,stop_gained,p.Leu11Ter,ENST00000539415,;SLCO1C1,non_coding_transcript_exon_variant,,ENST00000497911,;	A	ENST00000545604	Transcript	stop_gained	262/2557	32/2193	11/730	L/*	tTg/tAg		1		1	SLCO1C1	HGNC	HGNC:13819	protein_coding	YES	CCDS53757.1	ENSP00000444149	Q9NYB5		UPI00004C3E1B	NM_001145946.1			3/16		hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF99																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	40	20699608	20699608	T	A	1	0	0	0	0	0	1	0	0	15012	1821	63	4		4	SLCO1C1	12	20699608	Nonsense_Mutation	SNP	T	C3N-00180_TP		20699608	112575701	74	11616											
KRAS	0	.	GRCh38	chr12	25245350	25245350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		C3N-00180_TP	C3N-00180_NB	C	C																c.35G>T	p.Gly12Val	p.G12V	ENST00000256078	2/6	325	214	111	368	367	1	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Val,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Val,ENST00000556131,;KRAS,missense_variant,p.Gly12Val,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Val,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	99/1119	35/570	12/189	G/V	gGt/gTt	rs121913529,CM087372,COSM1135366,COSM1140133,COSM1140134,COSM12657,COSM49168,COSM520,COSM521,COSM522	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,0,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1,1,1	1										PASS		rs121913529	.												A	3	1	40	25245350	25245350	C	A	1	0	0	0	0	1	0	0	0	8318	507	18	2		2	KRAS	12	25245350	Missense_Mutation	SNP	C	C3N-00180_TP	4545742	25245350	108029959	75	11617											
TMTC1	0	.	GRCh38	chr12	29506897	29506897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgtttttctaggcgatcCaatttggcaagattttcctt	9	17	7	8	2	1	1	0	0	1	1	4	2	3	1	2	2	0	2	2	2	4	7	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.2598G>T	p.Leu866Phe	p.L866F	ENST00000539277	18/18	265	194	71	226	225	1	strelka-varscan-mutect	TMTC1,missense_variant,p.Leu758Phe,ENST00000256062,NM_175861.3;TMTC1,missense_variant,p.Leu928Phe,ENST00000551659,;TMTC1,missense_variant,p.Leu890Phe,ENST00000552618,;TMTC1,missense_variant,p.Leu866Phe,ENST00000539277,NM_001193451.1;TMTC1,non_coding_transcript_exon_variant,,ENST00000319685,;TMTC1,non_coding_transcript_exon_variant,,ENST00000552925,;	A	ENST00000539277	Transcript	missense_variant	2657/2758	2598/2649	866/882	L/F	ttG/ttT		1		-1	TMTC1	HGNC	HGNC:24099	protein_coding	YES	CCDS53772.1	ENSP00000442046	Q8IUR5		UPI0001DD37FA	NM_001193451.1	deleterious(0)		18/18		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF401,SMART_domains:SM00386																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	40	29506897	29506897	C	A	1	0	0	0	0	1	0	0	0	16734	593	21	2		2	TMTC1	12	29506897	Missense_Mutation	SNP	C	C3N-00180_TP	4261547	29506897	103768412	76	11618											
ESPL1	0	.	GRCh38	chr12	53290435	53290435	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactgacaagcgagaatggtGgacagggcggctggcactgg	10	6	17	8	2	0	2	0	1	0	1	0	4	0	3	0	6	2	2	0	6	3	1	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.5330G>C	p.Trp1777Ser	p.W1777S	ENST00000257934	24/31	238	169	69	233	233	0	strelka-varscan-mutect	ESPL1,missense_variant,p.Trp1777Ser,ENST00000257934,NM_012291.4;ESPL1,missense_variant,p.Trp1777Ser,ENST00000552462,;PFDN5,upstream_gene_variant,,ENST00000551018,NM_002624.3;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,non_coding_transcript_exon_variant,,ENST00000549154,;ESPL1,downstream_gene_variant,,ENST00000553016,;ESPL1,downstream_gene_variant,,ENST00000535123,;ESPL1,downstream_gene_variant,,ENST00000552600,;	C	ENST00000257934	Transcript	missense_variant	5421/6623	5330/6363	1777/2120	W/S	tGg/tCg		1		1	ESPL1	HGNC	HGNC:16856	protein_coding	YES	CCDS8852.1	ENSP00000257934	Q14674		UPI00003668C3	NM_012291.4	deleterious(0)		24/31		hmmpanther:PTHR12792,Pfam_domain:PF03568																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	40	53290435	53290435	G	C	1	0	0	0	0	1	0	0	0	5115	1357	47	4		4	ESPL1	12	53290435	Missense_Mutation	SNP	G	C3N-00180_TP	23783538	53290435	79984874	77	11619											
ZDHHC17	0	.	GRCh38	chr12	76764282	76764282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaagatggcggacggcccgGatgagtacgataccgaagcg	11	4	15	11	6	0	2	0	1	0	1	0	6	0	4	3	4	3	1	3	4	4	2	rs762609140		C3N-00180_TP	C3N-00180_NB	G	G																c.46G>A	p.Asp16Asn	p.D16N	ENST00000426126	1/17	165	119	46	182	182	0	strelka-varscan-mutect	ZDHHC17,missense_variant,p.Asp16Asn,ENST00000426126,NM_015336.2;ZDHHC17,5_prime_UTR_variant,,ENST00000550876,;ZDHHC17,upstream_gene_variant,,ENST00000549682,;ZDHHC17,missense_variant,p.Asp16Asn,ENST00000546778,;ZDHHC17,missense_variant,p.Asp14Asn,ENST00000552453,;ZDHHC17,missense_variant,p.Asp11Asn,ENST00000547620,;ZDHHC17,missense_variant,p.Asp9Asn,ENST00000551407,;ZDHHC17,missense_variant,p.Asp9Asn,ENST00000547604,;ZDHHC17,upstream_gene_variant,,ENST00000550163,;	A	ENST00000426126	Transcript	missense_variant	695/5259	46/1899	16/632	D/N	Gat/Aat	rs762609140	1		1	ZDHHC17	HGNC	HGNC:18412	protein_coding	YES	CCDS44946.1	ENSP00000403397	Q8IUH5		UPI0000051F55	NM_015336.2	tolerated_low_confidence(0.19)		1/17		hmmpanther:PTHR24161:SF18,hmmpanther:PTHR24161																	MODERATE	1	SNV	1			1										PASS		rs762609140	.												A	3	1	40	76764282	76764282	G	A	1	0	0	0	0	1	0	0	0	18183	1174	41	3		3	ZDHHC17	12	76764282	Missense_Mutation	SNP	G	C3N-00180_TP	23473847	76764282	56511027	78	11620											
TMEM119	0	.	GRCh38	chr12	108591621	108591621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctaacaagagagaccCttccagctccccttggccct	8	8	9	16	0	0	2	0	0	0	2	2	3	2	2	5	2	2	2	5	2	2	3	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.763G>T	p.Gly255Trp	p.G255W	ENST00000392806	2/2	148	100	48	168	168	0	strelka-varscan-mutect	TMEM119,missense_variant,p.Gly255Trp,ENST00000392806,NM_181724.2;TMEM119,downstream_gene_variant,,ENST00000549031,;TMEM119,downstream_gene_variant,,ENST00000549447,;TMEM119,downstream_gene_variant,,ENST00000547567,;	A	ENST00000392806	Transcript	missense_variant	932/2707	763/852	255/283	G/W	Ggg/Tgg		1		-1	TMEM119	HGNC	HGNC:27884	protein_coding	YES	CCDS9119.1	ENSP00000376553	Q4V9L6		UPI0000049333	NM_181724.2	deleterious_low_confidence(0.03)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR28645,hmmpanther:PTHR28645:SF1,Pfam_domain:PF15724																	MODERATE	1	SNV	1			1										PASS		rs748388228	.												A	3	1	40	108591621	108591621	C	A	1	0	0	0	0	1	0	0	0	16476	681	24	2		2	TMEM119	12	108591621	Missense_Mutation	SNP	C	C3N-00180_TP	31827339	108591621	24683688	79	11621											
DNAH10	0	.	GRCh38	chr12	123787844	123787844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaaaccttggaagccAggaacaccctcaggctgtgg	14	5	11	11	0	1	0	1	0	0	0	1	2	1	2	3	4	4	2	3	4	5	1	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.1279A>G	p.Arg427Gly	p.R427G	ENST00000638045	10/78	204	127	77	318	318	0	strelka-varscan-mutect	DNAH10,missense_variant,p.Arg488Gly,ENST00000409039,;DNAH10,missense_variant,p.Arg427Gly,ENST00000638045,NM_207437.3;DNAH10,missense_variant,p.Arg245Gly,ENST00000614082,;DNAH10,non_coding_transcript_exon_variant,,ENST00000467219,;DNAH10,non_coding_transcript_exon_variant,,ENST00000447853,;	G	ENST00000638045	Transcript	missense_variant	1304/13678	1279/13416	427/4471	R/G	Agg/Ggg		1		1	DNAH10	HGNC	HGNC:2941	protein_coding	YES	CCDS9255.2	ENSP00000489675			UPI00014F7B89	NM_207437.3	deleterious(0.03)		10/78		hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF08385																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	40	123787844	123787844	A	G	1	0	0	0	0	1	0	0	0	4411	179	7	5		5	DNAH10	12	123787844	Missense_Mutation	SNP	A	C3N-00180_TP	15196223	123787844	9487465	80	11622											
EP400	0	.	GRCh38	chr12	132045741	132045741	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctaggctgtaaagcagttActggagctgcctttgaacct	9	12	10	10	0	1	1	0	1	1	0	1	2	1	2	2	2	5	5	2	2	5	4	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.7041A>G	p.=	p.L2347L	ENST00000389562	38/52	115	78	37	130	130	0	strelka-varscan-mutect	EP400,synonymous_variant,p.=,ENST00000389562,;EP400,synonymous_variant,p.=,ENST00000389561,NM_015409.4;EP400,non_coding_transcript_exon_variant,,ENST00000611841,;	G	ENST00000389562	Transcript	synonymous_variant	7076/12836	7041/9372	2347/3123	L	ttA/ttG		1		1	EP400	HGNC	HGNC:11958	protein_coding	YES	CCDS31929.2	ENSP00000374213	Q96L91		UPI00004566BC				38/52		PROSITE_profiles:PS50090																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	40	132045741	132045741	A	G	1	0	0	0	0	0	0	0	1	4995	388	14	5		5	EP400	12	132045741	Silent	SNP	A	C3N-00180_TP	8257897	132045741	1229568	81	11623											
PCDH8	0	.	GRCh38	chr13	52846409	52846409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgggtggctcctgcgagagGtcgccggtgagcagtatctc	5	8	16	12	4	1	2	0	1	1	1	4	3	2	2	3	4	2	3	3	4	1	1	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.2028C>A	p.Asp676Glu	p.D676E	ENST00000377942	1/3	93	24	69	134	134	0	strelka-varscan-mutect	PCDH8,missense_variant,p.Asp676Glu,ENST00000377942,NM_002590.3;PCDH8,missense_variant,p.Asp676Glu,ENST00000338862,NM_032949.2;PCDH8,upstream_gene_variant,,ENST00000613548,;	T	ENST00000377942	Transcript	missense_variant	2232/5088	2028/3213	676/1070	D/E	gaC/gaA		1		-1	PCDH8	HGNC	HGNC:8660	protein_coding	YES	CCDS9438.1	ENSP00000367177	O95206		UPI0000072D47	NM_002590.3	tolerated(0.93)		1/3		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF46,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	40	52846409	52846409	G	T	1	0	0	0	0	1	0	0	0	11604	1252	44	2		2	PCDH8	13	52846409	Missense_Mutation	SNP	G	C3N-00180_TP		52846409	61517919	82	11624											
NEDD8	0	.	GRCh38	chr14	24218169	24218169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgagcctctgctgttgtGgggggattccctctttctcc	4	14	12	11	0	3	2	0	1	3	1	5	3	4	3	3	3	2	2	3	3	0	3	rs74744808		C3N-00180_TP	C3N-00180_NB	G	G																c.113C>G	p.Pro38Arg	p.P38R	ENST00000250495	3/4	159	120	39	185	185	0	strelka-varscan-mutect	NEDD8,missense_variant,p.Pro38Arg,ENST00000250495,NM_006156.2;NEDD8,missense_variant,p.Pro38Arg,ENST00000524927,;NEDD8-MDP1,missense_variant,p.Pro38Arg,ENST00000534348,NM_001199823.1;RP11-468E2.1,upstream_gene_variant,,ENST00000530611,;CHMP4A,upstream_gene_variant,,ENST00000347519,NM_014169.3;CHMP4A,upstream_gene_variant,,ENST00000530996,;CHMP4A,upstream_gene_variant,,ENST00000609024,;MDP1,upstream_gene_variant,,ENST00000288087,NM_001199822.1,NM_138476.3;MDP1,upstream_gene_variant,,ENST00000396833,NM_001199821.1;NEDD8,non_coding_transcript_exon_variant,,ENST00000527046,;NEDD8-MDP1,non_coding_transcript_exon_variant,,ENST00000604306,;NEDD8,non_coding_transcript_exon_variant,,ENST00000531430,;NEDD8,intron_variant,,ENST00000526430,;MDP1,upstream_gene_variant,,ENST00000532557,;MDP1,upstream_gene_variant,,ENST00000525696,;NEDD8-MDP1,missense_variant,p.Pro38Arg,ENST00000605847,;NEDD8,missense_variant,p.Pro38Arg,ENST00000396828,;NEDD8-MDP1,missense_variant,p.Pro38Arg,ENST00000530579,;NEDD8,non_coding_transcript_exon_variant,,ENST00000560427,;AL136419.6,upstream_gene_variant,,ENST00000565988,;AL136419.6,upstream_gene_variant,,ENST00000528804,;CHMP4A,upstream_gene_variant,,ENST00000533523,;MDP1,upstream_gene_variant,,ENST00000530222,;MDP1,upstream_gene_variant,,ENST00000466422,;MDP1,upstream_gene_variant,,ENST00000532742,;MDP1,upstream_gene_variant,,ENST00000533536,;CHMP4A,upstream_gene_variant,,ENST00000527154,;MDP1,upstream_gene_variant,,ENST00000528849,;MDP1,upstream_gene_variant,,ENST00000531553,;CHMP4A,upstream_gene_variant,,ENST00000534106,;	C	ENST00000250495	Transcript	missense_variant	300/708	113/246	38/81	P/R	cCa/cGa	rs74744808	1		-1	NEDD8	HGNC	HGNC:7732	protein_coding	YES	CCDS9621.1	ENSP00000250495	Q15843		UPI00000009A5	NM_006156.2	deleterious(0)		3/4		PROSITE_profiles:PS50053,hmmpanther:PTHR10666,PROSITE_patterns:PS00299,Pfam_domain:PF00240,Gene3D:3.10.20.90,SMART_domains:SM00213,Superfamily_domains:SSF54236,Prints_domain:PR00348																	MODERATE	1	SNV	1			1										PASS		rs74744808	.												C	3	2	40	24218169	24218169	G	C	1	0	0	0	0	1	0	0	0	10340	1348	47	4		4	NEDD8	14	24218169	Missense_Mutation	SNP	G	C3N-00180_TP		24218169	82825549	83	11625											
RTN1	0	.	GRCh38	chr14	59746173	59746173	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatctggtccagagggtCtgctaagatcttgttcactt	7	16	9	9	0	5	2	2	0	3	2	6	2	6	2	1	2	1	2	1	2	1	5			C3N-00180_TP	C3N-00180_NB	C	C																c.550G>T	p.Asp184Tyr	p.D184Y	ENST00000267484	2/9	111	85	26	60	60	0	strelka-varscan-mutect	RTN1,missense_variant,p.Asp184Tyr,ENST00000267484,NM_021136.2;RTN1,missense_variant,p.Asp110Tyr,ENST00000611068,;	A	ENST00000267484	Transcript	missense_variant	886/3435	550/2331	184/776	D/Y	Gac/Tac	COSM4552152,COSM4802485	1		-1	RTN1	HGNC	HGNC:10467	protein_coding	YES	CCDS9740.1	ENSP00000267484	Q16799		UPI00001352DA	NM_021136.2	deleterious(0)		2/9		hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	40	59746173	59746173	C	A	1	0	0	0	0	1	0	0	0	13985	913	32	2		2	RTN1	14	59746173	Missense_Mutation	SNP	C	C3N-00180_TP	35528004	59746173	47297545	84	11626											
VASH1	0	.	GRCh38	chr14	76778050	76778050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtccagcccccaccgcaGgaacagccgcagtgaaagac	12	2	10	17	2	0	2	0	1	0	1	1	3	1	3	6	1	3	2	6	1	2	0	rs762287715		C3N-00180_TP	C3N-00180_NB	G	G																c.1004G>A	p.Arg335Lys	p.R335K	ENST00000167106	6/7	83	41	42	87	87	0	strelka-varscan-mutect	VASH1,missense_variant,p.Arg335Lys,ENST00000167106,NM_014909.4;VASH1,5_prime_UTR_variant,,ENST00000554743,;VASH1,downstream_gene_variant,,ENST00000554237,;RP11-488C13.5,downstream_gene_variant,,ENST00000556072,;RP11-488C13.5,downstream_gene_variant,,ENST00000554058,;RP11-488C13.7,upstream_gene_variant,,ENST00000553758,;RP11-488C13.6,intron_variant,,ENST00000556368,;RP11-488C13.6,downstream_gene_variant,,ENST00000553507,;VASH1,downstream_gene_variant,,ENST00000556038,;VASH1,downstream_gene_variant,,ENST00000553518,;	A	ENST00000167106	Transcript	missense_variant	1637/5728	1004/1098	335/365	R/K	aGg/aAg	rs762287715	1		1	VASH1	HGNC	HGNC:19964	protein_coding	YES	CCDS9851.1	ENSP00000167106	Q7L8A9		UPI0000073F7C	NM_014909.4	tolerated(0.08)		6/7		hmmpanther:PTHR15750:SF3,hmmpanther:PTHR15750																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	40	76778050	76778050	G	A	1	0	0	0	0	1	0	0	0	17670	1000	35	3		3	VASH1	14	76778050	Missense_Mutation	SNP	G	C3N-00180_TP	17031877	76778050	30265668	85	11627											
NDN	0	.	GRCh38	chr15	23686372	23686372	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggggtctttcttaaaGaccctggccaggaactccat	8	10	11	12	0	2	1	0	0	2	1	3	2	3	2	4	4	1	0	4	4	3	2	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.846C>A	p.=	p.V282V	ENST00000331837	1/1	60	50	10	51	51	0	strelka-mutect	NDN,synonymous_variant,p.=,ENST00000331837,NM_002487.2;	T	ENST00000331837	Transcript	synonymous_variant	959/1931	846/966	282/321	V	gtC/gtA		1		-1	NDN	HGNC	HGNC:7675	protein_coding	YES	CCDS10014.1	ENSP00000332643	Q99608	X5D982	UPI000012FEF1	NM_002487.2			1/1		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF10																	LOW	1	SNV				1										PASS		.	.												T	2	4	40	23686372	23686372	G	T	1	0	0	0	0	0	0	0	1	10268	929	33	2		2	NDN	15	23686372	Silent	SNP	G	C3N-00180_TP		23686372	78304817	86	11628											
ARNT2	0	.	GRCh38	chr15	80593600	80593600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttttcctctcctctgcagGacatgctgcccatgccagga	6	12	8	15	0	3	0	0	0	3	0	5	2	4	2	4	2	4	2	4	2	0	2	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.2056G>T	p.Asp686Tyr	p.D686Y	ENST00000303329	19/19	137	80	57	115	115	0	strelka-varscan-mutect	ARNT2,missense_variant,p.Asp675Tyr,ENST00000533983,;ARNT2,missense_variant,p.Asp686Tyr,ENST00000303329,NM_014862.3;ARNT2,missense_variant,p.Asp686Tyr,ENST00000622346,;ARNT2,missense_variant,p.Asp675Tyr,ENST00000527771,;	T	ENST00000303329	Transcript	missense_variant,splice_region_variant	2221/6558	2056/2154	686/717	D/Y	Gac/Tac		1		1	ARNT2	HGNC	HGNC:16876	protein_coding	YES	CCDS32307.1	ENSP00000307479	Q9HBZ2	X5DQN9	UPI00001FEA05	NM_014862.3	deleterious_low_confidence(0)		19/19		hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	40	80593600	80593600	G	T	1	0	0	0	0	1	0	0	0	1108	1188	41	2		2	ARNT2	15	80593600	Missense_Mutation	SNP	G	C3N-00180_TP	56907228	80593600	21397589	87	11629											
TPSD1	0	.	GRCh38	chr16	1257059	1257059	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggggcgacgtggacaatAatggtgggtgttggggacag	8	8	20	5	2	0	0	0	0	0	0	0	3	0	2	0	7	0	2	0	7	2	2	rs201543585		C3N-00180_TP	C3N-00180_NB	A	A																c.517A>G	p.Asn173Asp	p.N173D	ENST00000211076	3/5	133	118	15	71	70	1	varscan-mutect	TPSD1,missense_variant,p.Asn173Asp,ENST00000211076,NM_012217.2;TPSD1,missense_variant,p.Asn166Asp,ENST00000397534,;RP11-616M22.5,upstream_gene_variant,,ENST00000566997,;PRSS29P,downstream_gene_variant,,ENST00000568091,;PRSS29P,downstream_gene_variant,,ENST00000440800,;	G	ENST00000211076	Transcript	missense_variant	665/1499	517/729	173/242	N/D	Aat/Gat	rs201543585	1		1	TPSD1	HGNC	HGNC:14118	protein_coding	YES	CCDS10432.1	ENSP00000211076	Q9BZJ3		UPI000007066B	NM_012217.2	tolerated(0.48)		3/5		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF261,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs201543585	.												G	3	3	40	1257059	1257059	A	G	1	0	0	0	0	1	0	0	0	16906	376	13	5		5	TPSD1	16	1257059	Missense_Mutation	SNP	A	C3N-00180_TP		1257059	89081286	88	11630											
C16orf59	0	.	GRCh38	chr16	2460663	2460663	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttgaagccacctccagggCcagaaactaatggagaggac	13	6	11	11	0	0	3	0	1	0	2	1	5	1	4	4	3	2	0	4	3	3	2	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.166C>G	p.Pro56Ala	p.P56A	ENST00000361837	3/10	143	100	43	227	227	0	strelka-varscan-mutect	C16orf59,missense_variant,p.Pro56Ala,ENST00000569496,;C16orf59,missense_variant,p.Pro56Ala,ENST00000563531,;C16orf59,missense_variant,p.Pro56Ala,ENST00000361837,NM_025108.2;C16orf59,missense_variant,p.Pro23Ala,ENST00000567489,;C16orf59,5_prime_UTR_variant,,ENST00000483320,;C16orf59,5_prime_UTR_variant,,ENST00000568753,;CCNF,downstream_gene_variant,,ENST00000397066,NM_001761.2;RP11-715J22.4,upstream_gene_variant,,ENST00000566085,;RP11-715J22.4,upstream_gene_variant,,ENST00000565827,;MIR6768,upstream_gene_variant,,ENST00000610734,;RP11-715J22.2,downstream_gene_variant,,ENST00000563775,;C16orf59,non_coding_transcript_exon_variant,,ENST00000569994,;C16orf59,non_coding_transcript_exon_variant,,ENST00000569664,;C16orf59,non_coding_transcript_exon_variant,,ENST00000562253,;C16orf59,non_coding_transcript_exon_variant,,ENST00000569665,;C16orf59,non_coding_transcript_exon_variant,,ENST00000565537,;CCNF,downstream_gene_variant,,ENST00000293968,NM_001323538.1;C16orf59,upstream_gene_variant,,ENST00000565716,;C16orf59,upstream_gene_variant,,ENST00000566580,;	G	ENST00000361837	Transcript	missense_variant	231/1662	166/1302	56/433	P/A	Cca/Gca		1		1	C16orf59	HGNC	HGNC:25849	protein_coding	YES	CCDS10468.2	ENSP00000355022	Q7L2K0		UPI000059D2F3	NM_025108.2	deleterious(0.02)		3/10		hmmpanther:PTHR14870																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	40	2460663	2460663	C	G	1	0	0	0	0	1	0	0	0	1860	739	26	4		4	C16orf59	16	2460663	Missense_Mutation	SNP	C	C3N-00180_TP	1203604	2460663	87877682	89	11631											
HS3ST4	0	.	GRCh38	chr16	26135888	26135888	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcgaatagggatctatgcGctgcatctggaaaactggct	11	11	11	8	2	2	0	0	0	2	0	3	3	2	2	0	3	3	3	0	3	5	3	rs540523376		C3N-00180_TP	C3N-00180_NB	G	G																c.1011G>T	p.=	p.A337A	ENST00000331351	2/2	402	280	122	448	447	1	strelka-varscan-mutect	HS3ST4,synonymous_variant,p.=,ENST00000331351,NM_006040.2;HS3ST4,non_coding_transcript_exon_variant,,ENST00000475436,;	T	ENST00000331351	Transcript	synonymous_variant	1403/3203	1011/1371	337/456	A	gcG/gcT	rs540523376	1		1	HS3ST4	HGNC	HGNC:5200	protein_coding	YES	CCDS53995.1	ENSP00000330606	Q9Y661		UPI000040938A	NM_006040.2			2/2		hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF11,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs540523376	.												T	2	4	40	26135888	26135888	G	T	1	0	0	0	0	0	0	0	1	7261	1074	38	1		1	HS3ST4	16	26135888	Silent	SNP	G	C3N-00180_TP	23675225	26135888	64202457	90	11632											
CYLD	0	.	GRCh38	chr16	50751758	50751758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtgattacgcaggtcctgGggacacaatgcaggtcgaac	12	7	13	9	2	0	1	0	1	0	0	2	3	1	2	1	4	3	2	1	4	4	1	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.659G>T	p.Gly220Val	p.G220V	ENST00000427738	3/18	427	285	142	427	426	1	strelka-varscan-mutect	CYLD,missense_variant,p.Gly220Val,ENST00000427738,;CYLD,missense_variant,p.Gly220Val,ENST00000311559,NM_015247.2;CYLD,missense_variant,p.Gly220Val,ENST00000398568,NM_001042412.1;CYLD,missense_variant,p.Gly220Val,ENST00000569418,NM_001042355.1;CYLD,missense_variant,p.Gly220Val,ENST00000568704,;CYLD,missense_variant,p.Gly220Val,ENST00000564326,;CYLD,missense_variant,p.Gly220Val,ENST00000566206,;CYLD,missense_variant,p.Gly220Val,ENST00000566679,;CYLD,downstream_gene_variant,,ENST00000569681,;CYLD,downstream_gene_variant,,ENST00000564634,;CYLD,non_coding_transcript_exon_variant,,ENST00000569891,;CYLD,non_coding_transcript_exon_variant,,ENST00000563629,;	T	ENST00000427738	Transcript	missense_variant	864/8503	659/2871	220/956	G/V	gGg/gTg		1		1	CYLD	HGNC	HGNC:2584	protein_coding	YES	CCDS45482.1	ENSP00000392025	Q9NQC7		UPI0000073A15		tolerated(0.29)		3/18		hmmpanther:PTHR11830:SF3,hmmpanther:PTHR11830,Superfamily_domains:SSF74924																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	40	50751758	50751758	G	T	1	0	0	0	0	1	0	0	0	3946	1232	43	2		2	CYLD	16	50751758	Missense_Mutation	SNP	G	C3N-00180_TP	24615870	50751758	39586587	91	11633											
CHD9	0	.	GRCh38	chr16	53273743	53273743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcccgagcagctccttcAagatgaaggctacaaaaaac	16	7	7	11	1	1	2	1	1	0	1	3	3	3	2	2	1	4	3	2	1	7	3	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.4835A>G	p.Gln1612Arg	p.Q1612R	ENST00000447540	23/39	96	66	30	147	147	0	strelka-varscan-mutect	CHD9,missense_variant,p.Gln1612Arg,ENST00000566029,NM_025134.4;CHD9,missense_variant,p.Gln1612Arg,ENST00000447540,NM_001308319.1;CHD9,missense_variant,p.Gln1612Arg,ENST00000564845,;CHD9,missense_variant,p.Gln1612Arg,ENST00000398510,;CHD9,5_prime_UTR_variant,,ENST00000615216,;CHD9,5_prime_UTR_variant,,ENST00000622617,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;	G	ENST00000447540	Transcript	missense_variant	5044/11509	4835/8694	1612/2897	Q/R	cAa/cGa		1		1	CHD9	HGNC	HGNC:25701	protein_coding	YES	CCDS76865.1	ENSP00000396345	Q3L8U1		UPI0000E02AC8	NM_001308319.1	deleterious(0.04)		23/39																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	40	53273743	53273743	A	G	1	0	0	0	0	1	0	0	0	3091	130	5	5		5	CHD9	16	53273743	Missense_Mutation	SNP	A	C3N-00180_TP	2521985	53273743	37064602	92	11634											
CDH11	0	.	GRCh38	chr16	64982054	64982054	+	Missense_Mutation	SNP	G	G	T																															aaatccgtctgtaccttatcGggctgttggcagcatcaggg																								rs200234049		C3N-00180_TP	C3N-00180_NB	G	G																c.1247C>A	p.Pro416Gln	p.P416Q	ENST00000268603	8/13	89	55	34	65	65	0	strelka-varscan-mutect	CDH11,missense_variant,p.Pro416Gln,ENST00000394156,NM_001308392.1;CDH11,missense_variant,p.Pro416Gln,ENST00000268603,NM_001797.2;CDH11,missense_variant,p.Pro290Gln,ENST00000566827,;CDH11,downstream_gene_variant,,ENST00000619158,;RP11-229O3.1,non_coding_transcript_exon_variant,,ENST00000624875,;	T	ENST00000268603	Transcript	missense_variant	1863/6857	1247/2391	416/796	P/Q	cCg/cAg	rs200234049	1		-1	CDH11	HGNC	HGNC:1750	protein_coding	YES	CCDS10803.1	ENSP00000268603	P55287		UPI000013D7C5	NM_001797.2	deleterious(0.01)		8/13		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs200234049	.												T	3	4	40	64982054	64982054	G	T	1	0	0	0	0	1	0	0	0	2800	1116	39	1		1	CDH11	16	64982054	Missense_Mutation	SNP	G	C3N-00180_TP	11708311	64982054	25356291	93	11635	264	2									
CDH11	0	.	GRCh38	chr16	64982055	64982055	+	Missense_Mutation	SNP	G	G	T																															aatccgtctgtaccttatcgGgctgttggcagcatcagggt																										C3N-00180_TP	C3N-00180_NB	G	G																c.1246C>A	p.Pro416Thr	p.P416T	ENST00000268603	8/13	93	55	38	65	65	0	strelka-varscan-mutect	CDH11,missense_variant,p.Pro416Thr,ENST00000394156,NM_001308392.1;CDH11,missense_variant,p.Pro416Thr,ENST00000268603,NM_001797.2;CDH11,missense_variant,p.Pro290Thr,ENST00000566827,;CDH11,downstream_gene_variant,,ENST00000619158,;RP11-229O3.1,non_coding_transcript_exon_variant,,ENST00000624875,;	T	ENST00000268603	Transcript	missense_variant	1862/6857	1246/2391	416/796	P/T	Ccg/Acg	COSM5385110,COSM5385111	1		-1	CDH11	HGNC	HGNC:1750	protein_coding	YES	CCDS10803.1	ENSP00000268603	P55287		UPI000013D7C5	NM_001797.2	tolerated(0.06)		8/13		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	40	64982055	64982055	G	T	1	0	0	0	0	1	0	0	0	2800	1232	43	2		2	CDH11	16	64982055	Missense_Mutation	SNP	G	C3N-00180_TP	1	64982055	25356290	94	11636	264	2									
MINK1	0	.	GRCh38	chr17	4893552	4893552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaggacgacgaggaggaagGcgaaggcgggccagcagagg	12	1	21	7	4	0	2	0	1	0	1	0	8	0	5	1	7	1	1	1	7	2	0	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.2519G>C	p.Gly840Ala	p.G840A	ENST00000355280	21/32	30	13	17	66	66	0	strelka-mutect	MINK1,missense_variant,p.Gly840Ala,ENST00000355280,NM_153827.4,NM_015716.4;MINK1,missense_variant,p.Gly811Ala,ENST00000347992,NM_170663.4;MINK1,missense_variant,p.Gly820Ala,ENST00000453408,NM_001024937.3;CHRNE,downstream_gene_variant,,ENST00000293780,NM_000080.3;MINK1,upstream_gene_variant,,ENST00000576037,;MINK1,3_prime_UTR_variant,,ENST00000574453,NM_001321236.1;MINK1,3_prime_UTR_variant,,ENST00000571207,;MINK1,non_coding_transcript_exon_variant,,ENST00000572330,;MINK1,non_coding_transcript_exon_variant,,ENST00000572629,;MINK1,non_coding_transcript_exon_variant,,ENST00000571526,;MINK1,upstream_gene_variant,,ENST00000574871,;CHRNE,downstream_gene_variant,,ENST00000572438,;MINK1,upstream_gene_variant,,ENST00000575511,;MINK1,upstream_gene_variant,,ENST00000572304,;	C	ENST00000355280	Transcript	missense_variant	2715/4961	2519/3999	840/1332	G/A	gGc/gCc		1		1	MINK1	HGNC	HGNC:17565	protein_coding	YES	CCDS45588.1	ENSP00000347427	Q8N4C8		UPI00001678BB	NM_153827.4,NM_015716.4	tolerated(0.1)		21/32		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	40	4893552	4893552	G	C	1	0	0	0	0	1	0	0	0	9551	1203	42	4		4	MINK1	17	4893552	Missense_Mutation	SNP	G	C3N-00180_TP		4893552	78363889	95	11637											
TP53	0	.	GRCh38	chr17	7673790	7673790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccggtctctcccaggaCaggcacaaacacgcacctca	10	5	9	17	3	2	0	1	0	1	0	4	1	3	1	3	3	2	2	3	3	1	0	rs763098116		C3N-00180_TP	C3N-00180_NB	C	C																c.830G>T	p.Cys277Phe	p.C277F	ENST00000269305	8/11	479	184	295	798	798	0	strelka-varscan-mutect	TP53,missense_variant,p.Cys277Phe,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Cys277Phe,ENST00000420246,;TP53,missense_variant,p.Cys238Phe,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Cys238Phe,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Cys277Phe,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Cys238Phe,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Cys277Phe,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Cys238Phe,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Cys277Phe,ENST00000445888,;TP53,missense_variant,p.Cys238Phe,ENST00000619485,;TP53,missense_variant,p.Cys145Phe,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Cys118Phe,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Cys145Phe,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Cys118Phe,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Cys145Phe,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Cys118Phe,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Cys277Phe,ENST00000359597,;TP53,missense_variant,p.Cys266Phe,ENST00000615910,;TP53,missense_variant,p.Cys145Phe,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Cys238Phe,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	1020/2579	830/1182	277/393	C/F	tGt/tTt	rs763098116,CM078491,TP53_g.13810G>T,TP53_g.13810G>A,TP53_g.13810G>C,COSM10749,COSM1649337,COSM4271761,COSM43737,COSM44992,COSM562338	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		8/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										likely_pathogenic	0,0,0,0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,0,0,0,1,1,1,1,1,1	1										PASS		rs763098116	.												A	3	1	40	7673790	7673790	C	A	1	0	0	0	0	1	0	0	0	16859	478	17	2		2	TP53	17	7673790	Missense_Mutation	SNP	C	C3N-00180_TP	2780238	7673790	75583651	96	11638											
ATAD5	0	.	GRCh38	chr17	30835658	30835658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaagacaaaggaaaacagAgtttttcaaaagcagcactt	18	10	7	6	0	1	2	1	0	0	2	1	3	1	3	0	1	3	3	0	1	6	5	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.1577A>G	p.Glu526Gly	p.E526G	ENST00000321990	2/23	76	38	38	102	102	0	strelka-varscan-mutect	ATAD5,missense_variant,p.Glu526Gly,ENST00000321990,NM_024857.4;CTD-2349P21.11,intron_variant,,ENST00000580873,;ATAD5,missense_variant,p.Glu526Gly,ENST00000578295,;ATAD5,non_coding_transcript_exon_variant,,ENST00000585133,;CTD-2349P21.1,downstream_gene_variant,,ENST00000490847,;	G	ENST00000321990	Transcript	missense_variant	1955/6869	1577/5535	526/1844	E/G	gAg/gGg		1		1	ATAD5	HGNC	HGNC:25752	protein_coding	YES	CCDS11260.1	ENSP00000313171	Q96QE3		UPI0000071E9E	NM_024857.4	tolerated(0.11)		2/23																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	40	30835658	30835658	A	G	1	0	0	0	0	1	0	0	0	1224	304	11	5		5	ATAD5	17	30835658	Missense_Mutation	SNP	A	C3N-00180_TP	23161868	30835658	52421783	97	11639											
STARD3	0	.	GRCh38	chr17	39660254	39660254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattgaagttccctttcacgGcaagacgtttatcctgaagg	10	12	9	10	2	1	3	1	2	0	1	3	3	3	3	2	2	0	3	2	2	4	5	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.839G>A	p.Gly280Asp	p.G280D	ENST00000336308	10/15	247	182	65	350	350	0	strelka-varscan-mutect	STARD3,missense_variant,p.Gly280Asp,ENST00000336308,NM_006804.3;STARD3,missense_variant,p.Gly254Asp,ENST00000580611,;STARD3,missense_variant,p.Gly262Asp,ENST00000394250,NM_001165938.1;STARD3,missense_variant,p.Gly280Asp,ENST00000544210,NM_001165937.1;TCAP,upstream_gene_variant,,ENST00000309889,NM_003673.3;STARD3,downstream_gene_variant,,ENST00000443521,;STARD3,downstream_gene_variant,,ENST00000581894,;STARD3,downstream_gene_variant,,ENST00000583419,;STARD3,downstream_gene_variant,,ENST00000577248,;STARD3,downstream_gene_variant,,ENST00000579479,;STARD3,downstream_gene_variant,,ENST00000580331,;STARD3,downstream_gene_variant,,ENST00000583718,;STARD3,non_coding_transcript_exon_variant,,ENST00000583639,;STARD3,downstream_gene_variant,,ENST00000578232,;STARD3,downstream_gene_variant,,ENST00000582874,;STARD3,downstream_gene_variant,,ENST00000460894,;STARD3,downstream_gene_variant,,ENST00000585214,;STARD3,downstream_gene_variant,,ENST00000578254,;STARD3,missense_variant,p.Ala258Thr,ENST00000578577,;STARD3,3_prime_UTR_variant,,ENST00000583884,;STARD3,non_coding_transcript_exon_variant,,ENST00000481171,;STARD3,non_coding_transcript_exon_variant,,ENST00000584850,;STARD3,non_coding_transcript_exon_variant,,ENST00000488876,;STARD3,non_coding_transcript_exon_variant,,ENST00000471896,;STARD3,non_coding_transcript_exon_variant,,ENST00000585269,;STARD3,non_coding_transcript_exon_variant,,ENST00000578384,;STARD3,downstream_gene_variant,,ENST00000583582,;STARD3,downstream_gene_variant,,ENST00000484773,;STARD3,upstream_gene_variant,,ENST00000578686,;STARD3,downstream_gene_variant,,ENST00000580551,;	A	ENST00000336308	Transcript	missense_variant	1057/2132	839/1338	280/445	G/D	gGc/gAc		1		1	STARD3	HGNC	HGNC:17579	protein_coding	YES	CCDS11341.1	ENSP00000337446	Q14849		UPI000013CE10	NM_006804.3	deleterious(0)		10/15		PROSITE_profiles:PS50848,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF51,Gene3D:3.30.530.20,Pfam_domain:PF01852,SMART_domains:SM00234,Superfamily_domains:SSF55961																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	40	39660254	39660254	G	A	1	0	0	0	0	1	0	0	0	15632	1203	42	3		3	STARD3	17	39660254	Missense_Mutation	SNP	G	C3N-00180_TP	8824596	39660254	43597187	98	11640											
NACA2	0	.	GRCh38	chr17	61590695	61590695	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcttcactctcctcttgTacagttggagtctgtgtgtt	4	18	8	11	0	5	0	1	0	4	0	7	1	6	1	2	1	1	3	2	1	1	5	novel		C3N-00180_TP	C3N-00180_NB	T	T																c.486A>G	p.=	p.V162V	ENST00000521764	1/1	536	316	220	452	452	0	strelka-varscan-mutect	NACA2,synonymous_variant,p.=,ENST00000521764,NM_199290.3;	C	ENST00000521764	Transcript	synonymous_variant	508/777	486/648	162/215	V	gtA/gtG		1		-1	NACA2	HGNC	HGNC:23290	protein_coding	YES	CCDS11630.1	ENSP00000427802	Q9H009		UPI0000070B04	NM_199290.3			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR21713,hmmpanther:PTHR21713:SF2,PIRSF_domain:PIRSF015901																	LOW	1	SNV				1										PASS		.	.												C	2	2	40	61590695	61590695	T	C	1	0	0	0	0	0	0	0	1	10140	1625	57	5		5	NACA2	17	61590695	Silent	SNP	T	C3N-00180_TP	21930441	61590695	21666746	99	11641											
SDK2	0	.	GRCh38	chr17	73401979	73401979	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaccagctgcggggtgcTgcgtggcccgtccccggggg	2	5	19	15	5	0	0	0	0	0	0	1	0	1	0	4	5	4	3	4	5	0	0	novel		C3N-00180_TP	C3N-00180_NB	T	T																c.2647A>T	p.Ser883Cys	p.S883C	ENST00000392650	19/45	107	57	50	153	153	0	strelka-varscan-mutect	SDK2,missense_variant,p.Ser883Cys,ENST00000392650,NM_001144952.1;SDK2,missense_variant,p.Ser59Cys,ENST00000424778,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;	A	ENST00000392650	Transcript	missense_variant	2648/10723	2647/6519	883/2172	S/C	Agc/Tgc		1		-1	SDK2	HGNC	HGNC:19308	protein_coding	YES	CCDS45769.1	ENSP00000376421	Q58EX2		UPI0000E5A088	NM_001144952.1	deleterious(0)		19/45		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF37,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	40	73401979	73401979	T	A	1	0	0	0	0	1	0	0	0	14244	1580	55	4		4	SDK2	17	73401979	Missense_Mutation	SNP	T	C3N-00180_TP	11811284	73401979	9855462	100	11642											
L3MBTL4	0	.	GRCh38	chr18	6241435	6241435	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaatccatccaaacaaattTatcttttctataacctaaaa	17	14	1	9	0	2	0	0	0	2	0	4	0	4	0	3	0	2	1	3	0	8	8	novel		C3N-00180_TP	C3N-00180_NB	T	T																c.475A>T	p.Lys159Ter	p.K159*	ENST00000400105	8/20	47	10	37	154	154	0	strelka-varscan-mutect	L3MBTL4,stop_gained,p.Lys159Ter,ENST00000400104,;L3MBTL4,stop_gained,p.Lys159Ter,ENST00000317931,;L3MBTL4,stop_gained,p.Lys159Ter,ENST00000400105,NM_173464.3;L3MBTL4,stop_gained,p.Lys159Ter,ENST00000583054,;L3MBTL4,downstream_gene_variant,,ENST00000581231,;L3MBTL4,downstream_gene_variant,,ENST00000583809,;	A	ENST00000400105	Transcript	stop_gained	635/3546	475/1872	159/623	K/*	Aaa/Taa		1		-1	L3MBTL4	HGNC	HGNC:26677	protein_coding	YES	CCDS11839.2	ENSP00000382976	Q8NA19		UPI000013DDC0	NM_173464.3			8/20		hmmpanther:PTHR12247:SF78,hmmpanther:PTHR12247,Gene3D:2.30.30.160,Superfamily_domains:SSF63748																	HIGH	1	SNV	2			1										PASS		rs1281211736	.												A	4	1	40	6241435	6241435	T	A	1	0	0	0	0	0	1	0	0	8496	1763	61	4		4	L3MBTL4	18	6241435	Nonsense_Mutation	SNP	T	C3N-00180_TP		6241435	74131850	101	11643											
MYO5B	0	.	GRCh38	chr18	49902721	49902721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcctggccttgagcatcCggaaggcacactggatgaca	9	6	12	14	2	0	2	0	2	0	0	1	4	1	4	4	4	1	2	4	4	1	1	rs201920924		C3N-00180_TP	C3N-00180_NB	C	C																c.2684G>T	p.Arg895Leu	p.R895L	ENST00000285039	21/40	426	125	301	589	589	0	strelka-varscan-mutect	MYO5B,missense_variant,p.Arg895Leu,ENST00000285039,NM_001080467.2;MYO5B,missense_variant,p.Arg38Leu,ENST00000324581,;	A	ENST00000285039	Transcript	missense_variant	2984/9505	2684/5547	895/1848	R/L	cGg/cTg	rs201920924,COSM3526176	1		-1	MYO5B	HGNC	HGNC:7603	protein_coding	YES	CCDS42436.1	ENSP00000285039	Q9ULV0		UPI00001D7B21	NM_001080467.2	deleterious(0)		21/40		Pfam_domain:PF00612,PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356,SMART_domains:SM00015,Superfamily_domains:SSF52540											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201920924	.												A	3	1	40	49902721	49902721	C	A	1	0	0	0	0	1	0	0	0	10080	652	23	1		1	MYO5B	18	49902721	Missense_Mutation	SNP	C	C3N-00180_TP	43661286	49902721	30470564	102	11644											
CDH20	0	.	GRCh38	chr18	61554398	61554398	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcggcaggacatgctgccCgagatcgagagcctctcccg	8	5	13	15	5	1	2	0	0	1	2	3	5	1	3	3	2	3	2	3	2	0	0	rs139351388		C3N-00180_TP	C3N-00180_NB	C	C																c.2109C>A	p.=	p.P703P	ENST00000262717	12/12	148	40	108	184	184	0	strelka-varscan-mutect	CDH20,synonymous_variant,p.=,ENST00000262717,;CDH20,synonymous_variant,p.=,ENST00000536675,NM_031891.2;CDH20,synonymous_variant,p.=,ENST00000538374,;CDH20,downstream_gene_variant,,ENST00000587582,;	A	ENST00000262717	Transcript	synonymous_variant	2507/3882	2109/2406	703/801	P	ccC/ccA	rs139351388,COSM392893,COSM5388322	1		1	CDH20	HGNC	HGNC:1760	protein_coding	YES	CCDS11977.1	ENSP00000262717	Q9HBT6		UPI000013D30D				12/12		hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027,Pfam_domain:PF01049											0,1,1						LOW	1	SNV	2		0,1,1	1										PASS		rs139351388	.												A	2	1	40	61554398	61554398	C	A	1	0	0	0	0	0	0	0	1	2809	639	23	1		1	CDH20	18	61554398	Silent	SNP	C	C3N-00180_TP	11651677	61554398	18818887	103	11645											
STK11	0	.	GRCh38	chr19	1220693	1220693	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccggcttcaaggtggAcatctggtcggctggggtca	5	11	14	11	2	4	0	2	0	2	0	6	1	4	1	1	7	0	2	1	7	1	2	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.710A>T	p.Asp237Val	p.D237V	ENST00000326873	5/10	57	28	29	147	147	0	strelka-varscan-mutect	STK11,missense_variant,p.Asp237Val,ENST00000586243,;STK11,missense_variant,p.Asp237Val,ENST00000326873,NM_000455.4;STK11,upstream_gene_variant,,ENST00000585465,;STK11,downstream_gene_variant,,ENST00000585748,;STK11,downstream_gene_variant,,ENST00000585851,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000591133,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;STK11,downstream_gene_variant,,ENST00000593219,;	T	ENST00000326873	Transcript	missense_variant	1160/2611	710/1302	237/433	D/V	gAc/gTc		1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4	deleterious(0)		5/10		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	40	1220693	1220693	A	T	1	0	0	0	0	1	0	0	0	15664	275	10	4		4	STK11	19	1220693	Missense_Mutation	SNP	A	C3N-00180_TP		1220693	57396923	104	11646											
ZNF99	0	.	GRCh38	chr19	22757663	22757663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgaattaccttatgtacaGtaagttttgaggaccactta	13	15	7	6	0	0	2	0	2	0	0	0	3	0	3	2	1	2	3	2	1	7	8	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.2246C>A	p.Thr749Asn	p.T749N	ENST00000596209	4/4	178	70	108	274	274	0	strelka-varscan-mutect	ZNF99,missense_variant,p.Thr749Asn,ENST00000596209,NM_001080409.2;ZNF99,missense_variant,p.Thr658Asn,ENST00000397104,;	T	ENST00000596209	Transcript	missense_variant	2337/7817	2246/2595	749/864	T/N	aCt/aAt		1		-1	ZNF99	HGNC	HGNC:13175	protein_coding	YES	CCDS59369.1	ENSP00000472969	A8MXY4		UPI0000426011	NM_001080409.2	tolerated(0.22)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		rs757387389	.												T	3	4	40	22757663	22757663	G	T	1	0	0	0	0	1	0	0	0	18797	1029	36	2		2	ZNF99	19	22757663	Missense_Mutation	SNP	G	C3N-00180_TP	21536970	22757663	35859953	105	11647											
ZNF541	0	.	GRCh38	chr19	47549430	47549430	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttcctggcactccccgaGgtggcccttcctccttcgtc	2	12	8	19	2	0	0	0	0	0	0	6	1	4	0	7	3	0	1	7	3	0	3	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.363C>G	p.=	p.T121T	ENST00000391901	2/15	408	239	169	411	411	0	strelka-varscan-mutect	ZNF541,synonymous_variant,p.=,ENST00000314121,;ZNF541,synonymous_variant,p.=,ENST00000391901,NM_001277075.1;ZNF541,upstream_gene_variant,,ENST00000595558,;ZNF541,upstream_gene_variant,,ENST00000263351,;	C	ENST00000391901	Transcript	synonymous_variant	363/4580	363/4041	121/1346	T	acC/acG		1		-1	ZNF541	HGNC	HGNC:25294	protein_coding	YES	CCDS46133.2	ENSP00000375770	Q9H0D2		UPI0000E5A21D	NM_001277075.1			2/15		hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF23																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	40	47549430	47549430	G	C	1	0	0	0	0	0	0	0	1	18549	987	35	4		4	ZNF541	19	47549430	Silent	SNP	G	C3N-00180_TP	24791767	47549430	11068186	106	11648											
RPS9	0	.	GRCh38	chr19	54201579	54201579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgggaactgctgacgcttGatgagaaggacccacggcgt	9	6	14	12	4	0	3	0	3	0	1	0	6	0	5	2	3	2	2	2	3	2	1	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.190G>A	p.Asp64Asn	p.D64N	ENST00000302907	3/5	168	113	55	220	220	0	strelka-varscan-mutect	RPS9,missense_variant,p.Asp64Asn,ENST00000402367,;RPS9,missense_variant,p.Asp64Asn,ENST00000441429,;RPS9,missense_variant,p.Asp64Asn,ENST00000302907,NM_001013.3;RPS9,missense_variant,p.Asp64Asn,ENST00000391752,NM_001321702.1;RPS9,missense_variant,p.Asp64Asn,ENST00000391753,;RPS9,missense_variant,p.Asp64Asn,ENST00000391751,NM_001321706.1;RPS9,missense_variant,p.Asp64Asn,ENST00000626547,;AC012314.20,upstream_gene_variant,,ENST00000426213,;RPS9,missense_variant,p.Asp64Asn,ENST00000448962,;RPS9,missense_variant,p.Asp64Asn,ENST00000445961,;RPS9,missense_variant,p.Asp64Asn,ENST00000436445,;RPS9,non_coding_transcript_exon_variant,,ENST00000495002,;RPS9,non_coding_transcript_exon_variant,,ENST00000484121,;RPS9,non_coding_transcript_exon_variant,,ENST00000460761,;	A	ENST00000302907	Transcript	missense_variant	362/829	190/585	64/194	D/N	Gat/Aat		1		1	RPS9	HGNC	HGNC:10442	protein_coding	YES	CCDS12884.1	ENSP00000302896	P46781		UPI00000040B2	NM_001013.3	tolerated(0.06)		3/5		hmmpanther:PTHR11831,hmmpanther:PTHR11831:SF10,TIGRFAM_domain:TIGR01018,SMART_domains:SM01390,Superfamily_domains:SSF55174																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	40	54201579	54201579	G	A	1	0	0	0	0	1	0	0	0	13917	1290	45	3		3	RPS9	19	54201579	Missense_Mutation	SNP	G	C3N-00180_TP	6652149	54201579	4416037	107	11649											
ZNF530	0	.	GRCh38	chr19	57605991	57605991	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggggaccaggcctcatttAtgatgaactgcaggttccat	10	11	11	9	0	1	2	1	2	0	0	2	3	2	3	3	4	2	2	3	4	2	3	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.466A>G	p.Met156Val	p.M156V	ENST00000332854	3/3	329	226	103	334	334	0	strelka-varscan-mutect	ZNF530,missense_variant,p.Met156Val,ENST00000332854,NM_020880.3;ZNF530,intron_variant,,ENST00000597864,;ZNF530,downstream_gene_variant,,ENST00000597700,;ZNF530,missense_variant,p.Met156Val,ENST00000600619,;ZNF530,non_coding_transcript_exon_variant,,ENST00000598297,;	G	ENST00000332854	Transcript	missense_variant	686/2962	466/1800	156/599	M/V	Atg/Gtg		1		1	ZNF530	HGNC	HGNC:29297	protein_coding	YES	CCDS12955.1	ENSP00000332861	Q6P9A1		UPI0000199017	NM_020880.3	tolerated(1)		3/3																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	40	57605991	57605991	A	G	1	0	0	0	0	1	0	0	0	18544	449	16	5		5	ZNF530	19	57605991	Missense_Mutation	SNP	A	C3N-00180_TP	3404412	57605991	1011625	108	11650											
ZNF135	0	.	GRCh38	chr19	58061601	58061601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagtgacgtttgaggacGtggtagtgggcttcagccag	9	9	16	7	2	1	2	1	2	0	0	1	3	1	3	1	3	2	4	1	3	2	3	rs751598990		C3N-00180_TP	C3N-00180_NB	G	G																c.91G>T	p.Val31Leu	p.V31L	ENST00000401053	2/4	117	87	30	166	165	1	strelka-mutect	ZNF135,missense_variant,p.Val31Leu,ENST00000401053,NM_001164529.1,NM_007134.1;ZNF135,missense_variant,p.Val19Leu,ENST00000313434,NM_001289401.1;ZNF135,missense_variant,p.Val19Leu,ENST00000511556,NM_003436.3;ZNF135,missense_variant,p.Val31Leu,ENST00000359978,NM_001164530.1;ZNF135,5_prime_UTR_variant,,ENST00000506786,NM_001289402.1;ZNF135,missense_variant,p.Val19Leu,ENST00000515535,;	T	ENST00000401053	Transcript	missense_variant	94/3346	91/2049	31/682	V/L	Gtg/Ttg	rs751598990	1		1	ZNF135	HGNC	HGNC:12919	protein_coding	YES	CCDS54329.1	ENSP00000441410	P52742		UPI0001B3CB2A	NM_001164529.1,NM_007134.1	deleterious(0)		2/4		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF250,SMART_domains:SM00349																	MODERATE	1	SNV	1			1										PASS		rs751598990	.												T	3	4	40	58061601	58061601	G	T	1	0	0	0	0	1	0	0	0	18306	1145	40	1		1	ZNF135	19	58061601	Missense_Mutation	SNP	G	C3N-00180_TP	455610	58061601	556015	109	11651											
LAMA5	0	.	GRCh38	chr20	62323527	62323528	+	Frame_Shift_Del	DEL	GT	GT	-																															tctcgcagcggggcccagtgGtgtggcgcaggcagccacgg																								novel		C3N-00180_TP	C3N-00180_NB	GT	GT																c.5992_5993delAC	p.Thr1998HisfsTer54	p.T1998Hfs*54	ENST00000252999	45/80	98	59	39	127	127	0	sindel-varindel-pindel	LAMA5,frameshift_variant,p.Thr1998HisfsTer54,ENST00000252999,NM_005560.4;LAMA5,downstream_gene_variant,,ENST00000497363,;LAMA5,downstream_gene_variant,,ENST00000464134,;LAMA5,upstream_gene_variant,,ENST00000481120,;	-	ENST00000252999	Transcript	frameshift_variant	6059-6060/11426	5992-5993/11088	1998/3695	T/X	ACc/c		1		-1	LAMA5	HGNC	HGNC:6485	protein_coding	YES	CCDS33502.1	ENSP00000252999	O15230		UPI0000161FDC	NM_005560.4			45/80		PROSITE_profiles:PS50027,PROSITE_patterns:PS01248,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	40	62323527	62323527	GT	-	1	0	1	0	1	0	0	0	0	8513	1261	44	0		0	LAMA5	20	62323527	Frame_Shift_Del	DEL	GT	C3N-00180_TP		62323527	2120640	110	11652											
NPBWR2	0	.	GRCh38	chr20	64106399	64106399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcacggtggccagcaccaCcaggtatcggtccacgctca	8	6	10	17	3	2	0	2	0	0	0	4	0	3	0	5	4	1	3	5	4	1	1	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.433G>A	p.Val145Met	p.V145M	ENST00000369768	1/1	227	124	103	203	203	0	strelka-varscan-mutect	NPBWR2,missense_variant,p.Val145Met,ENST00000369768,NM_005286.2;	T	ENST00000369768	Transcript	missense_variant	773/1352	433/1002	145/333	V/M	Gtg/Atg		1		-1	NPBWR2	HGNC	HGNC:4530	protein_coding	YES	CCDS13557.1	ENSP00000358783	P48146		UPI000013CBB3	NM_005286.2	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF18,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	40	64106399	64106399	C	T	1	0	0	0	0	1	0	0	0	10617	507	18	3		3	NPBWR2	20	64106399	Missense_Mutation	SNP	C	C3N-00180_TP	1782872	64106399	337768	111	11653											
TPTE	0	.	GRCh38	chr21	10567731	10567731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccattattgtgattcttCtgctggttgatgtcgtttac	5	19	9	8	1	2	2	0	2	2	0	3	2	2	2	1	1	3	3	1	1	2	7	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.508C>A	p.Leu170Met	p.L170M	ENST00000618007	11/24	71	56	15	448	447	1	strelka-varscan-mutect	TPTE,missense_variant,p.Leu152Met,ENST00000622113,NM_199259.3;TPTE,missense_variant,p.Leu170Met,ENST00000618007,NM_199261.3;TPTE,missense_variant,p.Leu132Met,ENST00000427445,NM_199260.3;TPTE,missense_variant,p.Leu32Met,ENST00000612746,NM_001290224.1;TPTE,downstream_gene_variant,,ENST00000612957,;AL078471.5,non_coding_transcript_exon_variant,,ENST00000612267,;	A	ENST00000618007	Transcript	missense_variant	838/2150	508/1656	170/551	L/M	Ctg/Atg		1		1	TPTE	HGNC	HGNC:12023	protein_coding	YES	CCDS74771.1	ENSP00000484403	P56180		UPI000016A18A	NM_199261.3	deleterious(0.03)		11/24		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12305:SF56,hmmpanther:PTHR12305,Gene3D:1.10.287.70,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	40	10567731	10567731	C	A	1	0	0	0	0	1	0	0	0	16911	912	32	2		2	TPTE	21	10567731	Missense_Mutation	SNP	C	C3N-00180_TP		10567731	36142252	112	11654											
LTN1	0	.	GRCh38	chr21	28982360	28982360	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttttataagatgatcCtgcagcacctacaaaggggg	11	12	10	8	0	1	2	0	1	1	1	2	2	2	2	2	2	3	3	2	2	4	5	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.723G>T	p.Gln241His	p.Q241H	ENST00000614971	5/30	151	109	42	187	187	0	strelka-varscan-mutect	LTN1,missense_variant,p.Gln241His,ENST00000614971,NM_015565.2;LTN1,missense_variant,p.Gln241His,ENST00000389194,;LTN1,missense_variant,p.Gln195His,ENST00000361371,;LTN1,missense_variant,p.Gln241His,ENST00000389195,;LTN1,missense_variant,p.Gln124His,ENST00000483326,;	A	ENST00000614971	Transcript	missense_variant	736/7756	723/5439	241/1812	Q/H	caG/caT		1		-1	LTN1	HGNC	HGNC:13082	protein_coding	YES	CCDS33527.2	ENSP00000478783	O94822		UPI000049DF6C	NM_015565.2	tolerated(0.17)		5/30		hmmpanther:PTHR12389																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	40	28982360	28982360	C	A	1	0	0	0	0	1	0	0	0	8987	680	24	2		2	LTN1	21	28982360	Missense_Mutation	SNP	C	C3N-00180_TP	18414629	28982360	17727623	113	11655											
NDUFV3	0	.	GRCh38	chr21	42893363	42893363	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtttgctgcggcaaggAcgagccggggcgctgaaggt	6	7	18	10	5	0	1	0	1	0	0	0	3	0	2	2	5	3	4	2	5	2	1	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.30A>G	p.=	p.G10G	ENST00000354250	1/4	308	191	117	418	418	0	strelka-varscan-mutect	NDUFV3,synonymous_variant,p.=,ENST00000340344,NM_001001503.1;NDUFV3,synonymous_variant,p.=,ENST00000354250,NM_021075.3;NDUFV3,non_coding_transcript_exon_variant,,ENST00000460740,;NDUFV3,intron_variant,,ENST00000460259,;	G	ENST00000354250	Transcript	synonymous_variant	99/1575	30/1422	10/473	G	ggA/ggG		1		1	NDUFV3	HGNC	HGNC:7719	protein_coding	YES	CCDS33572.1	ENSP00000346196	P56181		UPI000037848B	NM_021075.3			1/4		hmmpanther:PTHR17117:SF1,hmmpanther:PTHR17117																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	40	42893363	42893363	A	G	1	0	0	0	0	0	0	0	1	10325	262	10	5		5	NDUFV3	21	42893363	Silent	SNP	A	C3N-00180_TP	13911003	42893363	3816620	114	11656											
GAB4	0	.	GRCh38	chr22	16963822	16963822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaaacaggaaatgcagatGccgggttctgctgtcacaag	12	7	13	9	2	2	1	1	0	1	1	2	3	2	3	1	3	4	3	1	3	3	1	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.1484C>A	p.Ala495Glu	p.A495E	ENST00000400588	9/10	251	159	92	301	301	0	strelka-varscan-mutect	GAB4,missense_variant,p.Ala495Glu,ENST00000400588,NM_001037814.1;AC006548.28,non_coding_transcript_exon_variant,,ENST00000623130,;GAB4,downstream_gene_variant,,ENST00000523144,;GAB4,downstream_gene_variant,,ENST00000520505,;GAB4,3_prime_UTR_variant,,ENST00000465611,;	T	ENST00000400588	Transcript	missense_variant	1592/2630	1484/1725	495/574	A/E	gCa/gAa		1		-1	GAB4	HGNC	HGNC:18325	protein_coding	YES	CCDS42976.1	ENSP00000383431	Q2WGN9		UPI00002326B5	NM_001037814.1	tolerated(0.14)		9/10		hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	40	16963822	16963822	G	T	1	0	0	0	0	1	0	0	0	6022	1319	46	2		2	GAB4	22	16963822	Missense_Mutation	SNP	G	C3N-00180_TP		16963822	33854646	115	11657											
LRRC74B	0	.	GRCh38	chr22	21048958	21048958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgtcccccagatgtggaCctgtcggagaaccagctggg	7	9	13	12	1	1	2	0	0	1	2	3	4	2	3	4	3	2	1	4	3	1	1	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.423C>A	p.Asp141Glu	p.D141E	ENST00000442047	4/9	170	101	69	164	163	1	strelka-varscan-mutect	LRRC74B,missense_variant,p.Asp141Glu,ENST00000442047,NM_001291006.1;AC002472.11,downstream_gene_variant,,ENST00000450652,;P2RX6P,upstream_gene_variant,,ENST00000439119,;LRRC74B,non_coding_transcript_exon_variant,,ENST00000497328,;LRRC74B,non_coding_transcript_exon_variant,,ENST00000473769,;P2RX6P,upstream_gene_variant,,ENST00000450626,;	A	ENST00000442047	Transcript	missense_variant	423/1179	423/1179	141/392	D/E	gaC/gaA		1		1	LRRC74B	HGNC	HGNC:34301	protein_coding	YES	CCDS77654.1	ENSP00000394078	Q6ZQY2		UPI000436DF24	NM_001291006.1	deleterious(0)		4/9		Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24114,hmmpanther:PTHR24114:SF21,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE		SNV	5			1										PASS		rs1399856924	.												A	3	1	40	21048958	21048958	C	A	1	0	0	0	0	1	0	0	0	8922	506	18	2		2	LRRC74B	22	21048958	Missense_Mutation	SNP	C	C3N-00180_TP	4085136	21048958	29769510	116	11658											
SLC5A4	0	.	GRCh38	chr22	32218688	32218688	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaccgcagaacaagtcataAgctttcttgaggcatccacg	14	8	8	11	2	2	2	1	1	1	1	3	2	3	2	2	1	3	3	2	1	4	3	novel		C3N-00180_TP	C3N-00180_NB	A	A																c.1806T>A	p.=	p.A602A	ENST00000266086	15/15	217	114	103	380	380	0	strelka-varscan-mutect	SLC5A4,synonymous_variant,p.=,ENST00000266086,NM_014227.2;RP1-90G24.10,intron_variant,,ENST00000434942,;	T	ENST00000266086	Transcript	synonymous_variant	1818/2030	1806/1980	602/659	A	gcT/gcA		1		-1	SLC5A4	HGNC	HGNC:11039	protein_coding	YES	CCDS13903.1	ENSP00000266086	Q9NY91		UPI00001359F4	NM_014227.2			15/15																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	40	32218688	32218688	A	T	1	0	0	0	0	0	0	0	1	14950	59	3	4		4	SLC5A4	22	32218688	Silent	SNP	A	C3N-00180_TP	11169730	32218688	18599780	117	11659											
BRWD3	0	.	GRCh38	chrX	80722788	80722788	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacatctgatctggaatCtttatgacagatttttagtg	13	15	8	5	0	3	4	0	2	3	2	3	5	3	5	0	1	1	0	0	1	5	5	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.1651-1G>T		p.X551_splice	ENST00000373275		122	26	96	169	169	0	strelka-varscan-mutect	BRWD3,splice_acceptor_variant,,ENST00000373275,NM_153252.4;BRWD3,upstream_gene_variant,,ENST00000473691,;BRWD3,upstream_gene_variant,,ENST00000497335,;	A	ENST00000373275	Transcript	splice_acceptor_variant	-/11381	1651/5409	551/1802				1		-1	BRWD3	HGNC	HGNC:17342	protein_coding	YES	CCDS14447.1	ENSP00000362372	Q6RI45		UPI000045785B	NM_153252.4				16/40																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	40	80722788	80722788	C	A	1	0	0	0	0	0	0	1	0	1700	927	32	2		2	BRWD3	23	80722788	Splice_Site	SNP	C	C3N-00180_TP		80722788	75318107	118	11660											
ARMCX4	0	.	GRCh38	chrX	101490344	101490344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggactaaggcagaccagagGgtctgtggtcagcccctggt	8	7	16	10	0	2	2	1	0	1	2	2	3	2	3	3	5	1	1	3	5	1	1	novel		C3N-00180_TP	C3N-00180_NB	G	G																c.1755G>T	p.Arg585Ser	p.R585S	ENST00000423738	2/2	94	28	66	77	77	0	strelka-varscan-mutect	ARMCX4,missense_variant,p.Arg585Ser,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000455331,;	T	ENST00000423738	Transcript	missense_variant	1957/7424	1755/6873	585/2290	R/S	agG/agT		1		1	ARMCX4	HGNC	HGNC:28615	protein_coding	YES	CCDS59170.1	ENSP00000404304		F8W8Y7	UPI000442CF06	NM_001256155.2	tolerated(0.23)		2/2																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	40	101490344	101490344	G	T	1	0	0	0	0	1	0	0	0	1102	1223	43	2		2	ARMCX4	23	101490344	Missense_Mutation	SNP	G	C3N-00180_TP	20767556	101490344	54550551	119	11661											
GPRASP1	0	.	GRCh38	chrX	102657394	102657394	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagagtttgaagaactccttTtattaatggaaaaaattcgg	16	13	8	4	1	0	3	0	1	0	2	2	4	1	4	1	2	1	1	1	2	8	5	novel		C3N-00180_TP	C3N-00180_NB	T	T																c.3481T>A	p.Leu1161Ile	p.L1161I	ENST00000537097	6/6	132	23	109	130	130	0	strelka-varscan-mutect	GPRASP1,missense_variant,p.Leu1161Ile,ENST00000537097,NM_001184727.1;GPRASP1,missense_variant,p.Leu1161Ile,ENST00000361600,NM_014710.4;GPRASP1,missense_variant,p.Leu1161Ile,ENST00000415986,NM_001099410.1;GPRASP1,missense_variant,p.Leu1161Ile,ENST00000444152,NM_001099411.1;RP4-769N13.7,intron_variant,,ENST00000602441,;ARMCX5-GPRASP2,intron_variant,,ENST00000486740,;ARMCX5-GPRASP2,intron_variant,,ENST00000602366,;ARMCX5-GPRASP2,intron_variant,,ENST00000602463,;GPRASP1,downstream_gene_variant,,ENST00000466098,;	A	ENST00000537097	Transcript	missense_variant	4294/5980	3481/4188	1161/1395	L/I	Tta/Ata		1		1	GPRASP1	HGNC	HGNC:24834	protein_coding	YES	CCDS35352.1	ENSP00000445683	Q5JY77		UPI0000073B80	NM_001184727.1	tolerated(0.06)		6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR15712:SF22,hmmpanther:PTHR15712,Pfam_domain:PF04826																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	40	102657394	102657394	T	A	1	0	0	0	0	1	0	0	0	6601	1838	64	4		4	GPRASP1	23	102657394	Missense_Mutation	SNP	T	C3N-00180_TP	1167050	102657394	53383501	120	11662											
TENM1	0	.	GRCh38	chrX	124380937	124380937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attctccagaatccgcctccCcccagtgttaccgatgagca	9	9	7	16	2	1	2	0	1	1	1	4	3	3	2	7	0	2	2	7	0	2	2	novel		C3N-00180_TP	C3N-00180_NB	C	C																c.7798G>T	p.Gly2600Trp	p.G2600W	ENST00000422452	32/32	99	21	78	105	105	0	strelka-varscan-mutect	TENM1,missense_variant,p.Gly2600Trp,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,missense_variant,p.Gly2593Trp,ENST00000371130,NM_014253.3;STAG2,intron_variant,,ENST00000469481,;	A	ENST00000422452	Transcript	missense_variant	7862/12891	7798/8199	2600/2732	G/W	Ggg/Tgg		1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1	deleterious(0)		32/32		hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	40	124380937	124380937	C	A	1	0	0	0	0	1	0	0	0	16171	623	22	2		2	TENM1	23	124380937	Missense_Mutation	SNP	C	C3N-00180_TP	21723543	124380937	31659958	121	11663											
AJAP1	0	.	GRCh38	chr1	4712426	4712426	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcatcgcctgggggcccAcgggggacgaggaggccctg	6	5	18	12	3	1	0	1	0	0	0	2	3	1	2	3	6	0	1	3	6	0	1	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.556A>T	p.Thr186Ser	p.T186S	ENST00000378191	2/6	93	78	15	68	68	0	strelka-varscan-mutect	AJAP1,missense_variant,p.Thr186Ser,ENST00000378191,NM_018836.3;AJAP1,missense_variant,p.Thr186Ser,ENST00000378190,NM_001042478.1;AJAP1,downstream_gene_variant,,ENST00000466761,;	T	ENST00000378191	Transcript	missense_variant	937/11666	556/1236	186/411	T/S	Acg/Tcg		1		1	AJAP1	HGNC	HGNC:30801	protein_coding	YES	CCDS54.1	ENSP00000367433	Q9UKB5		UPI00000728B8	NM_018836.3	deleterious(0)		2/6		hmmpanther:PTHR32422,Pfam_domain:PF15298																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	4712426	4712426	A	T	1	0	0	0	0	1	0	0	0	516	159	6	4		4	AJAP1	1	4712426	Missense_Mutation	SNP	A	C3N-00199_TP		4712426	244243996	1	11664											
AJAP1	0	.	GRCh38	chr1	4772394	4772394	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggtgcccagcagcctGgacatattcacggcctataa	9	7	11	14	2	1	0	1	0	0	0	1	1	1	1	4	3	3	1	4	3	3	4	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1032G>T	p.=	p.L344L	ENST00000378191	4/6	580	387	193	482	482	0	strelka-varscan-mutect	AJAP1,synonymous_variant,p.=,ENST00000378191,NM_018836.3;AJAP1,synonymous_variant,p.=,ENST00000378190,NM_001042478.1;	T	ENST00000378191	Transcript	synonymous_variant	1413/11666	1032/1236	344/411	L	ctG/ctT		1		1	AJAP1	HGNC	HGNC:30801	protein_coding	YES	CCDS54.1	ENSP00000367433	Q9UKB5		UPI00000728B8	NM_018836.3			4/6		hmmpanther:PTHR32422,Pfam_domain:PF15298																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	41	4772394	4772394	G	T	1	0	0	0	0	0	0	0	1	516	1335	47	2		2	AJAP1	1	4772394	Silent	SNP	G	C3N-00199_TP	59968	4772394	244184028	2	11665											
HES2	0	.	GRCh38	chr1	6419026	6419026	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtccagggtggcgctggcCgctctccgccacaggtgctc	3	7	14	17	4	1	0	0	0	1	0	4	0	2	0	5	4	1	3	5	4	0	0	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.369G>T	p.=	p.A123A	ENST00000377834	4/4	124	101	23	63	63	0	strelka-varscan-mutect	HES2,synonymous_variant,p.=,ENST00000377834,NM_019089.4;HES2,3_prime_UTR_variant,,ENST00000487437,;HES2,3_prime_UTR_variant,,ENST00000489730,;HES2,intron_variant,,ENST00000377837,;HES2,intron_variant,,ENST00000377836,;HES2,upstream_gene_variant,,ENST00000471190,;	A	ENST00000377834	Transcript	synonymous_variant	468/4262	369/522	123/173	A	gcG/gcT		1		-1	HES2	HGNC	HGNC:16005	protein_coding	YES	CCDS30574.1	ENSP00000367065	Q9Y543		UPI000012C617	NM_019089.4			4/4		Superfamily_domains:0053813,Pfam_domain:PF07527,hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF15,SMART_domains:SM00511																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	41	6419026	6419026	C	A	1	0	0	0	0	0	0	0	1	6950	639	23	1		1	HES2	1	6419026	Silent	SNP	C	C3N-00199_TP	1646632	6419026	242537396	3	11666											
KIF1B	0	.	GRCh38	chr1	10365614	10365614	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattcaggagacatcgaaaGcctggtggaccgagagaaag	14	6	14	7	2	1	3	1	1	0	2	2	8	1	4	2	3	1	0	2	3	2	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.4580G>C	p.Ser1527Thr	p.S1527T	ENST00000263934	41/47	478	443	35	596	596	0	strelka-varscan-mutect	KIF1B,missense_variant,p.Ser1573Thr,ENST00000377086,;KIF1B,missense_variant,p.Ser1573Thr,ENST00000377081,;KIF1B,missense_variant,p.Ser1559Thr,ENST00000620295,;KIF1B,missense_variant,p.Ser1547Thr,ENST00000622724,;KIF1B,missense_variant,p.Ser1527Thr,ENST00000263934,NM_015074.3;KIF1B,missense_variant,p.Ser255Thr,ENST00000635499,;KIF1B,downstream_gene_variant,,ENST00000465635,;KIF1B,non_coding_transcript_exon_variant,,ENST00000470616,;KIF1B,downstream_gene_variant,,ENST00000483340,;	C	ENST00000263934	Transcript	missense_variant	4733/6816	4580/5313	1527/1770	S/T	aGc/aCc		1		1	KIF1B	HGNC	HGNC:16636	protein_coding	YES	CCDS111.1	ENSP00000263934	O60333		UPI000013EE7E	NM_015074.3	tolerated(0.68)		41/47																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	41	10365614	10365614	G	C	1	0	0	0	0	1	0	0	0	8148	971	34	4		4	KIF1B	1	10365614	Missense_Mutation	SNP	G	C3N-00199_TP	3946588	10365614	238590808	4	11667											
KIF17	0	.	GRCh38	chr1	20682880	20682880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctgctgctccaacagctGcagactgccggcgtggagga	9	6	13	13	2	0	1	0	0	0	1	1	3	1	3	3	3	7	4	3	3	2	0	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.2236C>A	p.Gln746Lys	p.Q746K	ENST00000247986	11/15	185	142	43	168	168	0	strelka-varscan-mutect	KIF17,missense_variant,p.Gln746Lys,ENST00000247986,NM_020816.3;KIF17,missense_variant,p.Gln746Lys,ENST00000400463,NM_001122819.2;KIF17,missense_variant,p.Gln646Lys,ENST00000375044,NM_001287212.1;KIF17,non_coding_transcript_exon_variant,,ENST00000490034,;KIF17,non_coding_transcript_exon_variant,,ENST00000477167,;KIF17,non_coding_transcript_exon_variant,,ENST00000462858,;KIF17,non_coding_transcript_exon_variant,,ENST00000498225,;	T	ENST00000247986	Transcript	missense_variant	2547/3969	2236/3090	746/1029	Q/K	Cag/Aag		1		-1	KIF17	HGNC	HGNC:19167	protein_coding	YES	CCDS213.1	ENSP00000247986	Q9P2E2		UPI0000185F1A	NM_020816.3	tolerated(0.12)		11/15		hmmpanther:PTHR24115:SF355,hmmpanther:PTHR24115																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	20682880	20682880	G	T	1	0	0	0	0	1	0	0	0	8143	1333	46	2		2	KIF17	1	20682880	Missense_Mutation	SNP	G	C3N-00199_TP	10317266	20682880	228273542	5	11668											
ECE1	0	.	GRCh38	chr1	21279290	21279290	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctccacctgggtccgtgCagcccagcacctctggccac	5	8	9	19	1	2	0	0	0	2	0	4	0	3	0	6	2	3	2	6	2	0	1	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.181G>T	p.Ala61Ser	p.A61S	ENST00000374893	3/19	570	419	151	585	585	0	strelka-varscan-mutect	ECE1,missense_variant,p.Ala45Ser,ENST00000415912,NM_001113348.1;ECE1,missense_variant,p.Ala49Ser,ENST00000357071,NM_001113347.1;ECE1,missense_variant,p.Ala61Ser,ENST00000374893,NM_001397.2;ECE1,missense_variant,p.Ala58Ser,ENST00000264205,NM_001113349.1;ECE1,missense_variant,p.Ala61Ser,ENST00000436918,;ECE1,missense_variant,p.Ala44Ser,ENST00000527991,;ECE1,missense_variant,p.Ala47Ser,ENST00000481130,;ECE1,5_prime_UTR_variant,,ENST00000473505,;ECE1,non_coding_transcript_exon_variant,,ENST00000463334,;ECE1,non_coding_transcript_exon_variant,,ENST00000526194,;	A	ENST00000374893	Transcript	missense_variant	256/2484	181/2313	61/770	A/S	Gca/Tca		1		-1	ECE1	HGNC	HGNC:3146	protein_coding	YES	CCDS215.1	ENSP00000364028	P42892	A0A024RAF7	UPI0000129B5E	NM_001397.2	tolerated(1)		3/19		hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF130																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	21279290	21279290	C	A	1	0	0	0	0	1	0	0	0	4715	710	25	2		2	ECE1	1	21279290	Missense_Mutation	SNP	C	C3N-00199_TP	596410	21279290	227677132	6	11669											
SEPN1	0	.	GRCh38	chr1	25811729	25811735	+	Frame_Shift_Del	DEL	GATCCTG	GATCCTG	-																															ggcccctctgtgccctccgtGatcctggatgaggatggcag																								novel		C3N-00199_TP	C3N-00199_NB	GATCCTG	GATCCTG																c.1134_1140delCCTGGAT	p.Ile378MetfsTer?	p.I378Mfs*?	ENST00000361547	9/13	310	227	83	327	327	0	sindel-varindel-pindel	SEPN1,frameshift_variant,p.Ile378MetfsTer?,ENST00000361547,NM_020451.2;SEPN1,frameshift_variant,p.Ile344MetfsTer6,ENST00000354177,;SEPN1,frameshift_variant,p.Ile344MetfsTer6,ENST00000374315,NM_206926.1;SEPN1,upstream_gene_variant,,ENST00000630065,;SEPN1,upstream_gene_variant,,ENST00000494537,;RP1-317E23.6,non_coding_transcript_exon_variant,,ENST00000559265,;RP1-317E23.6,upstream_gene_variant,,ENST00000527604,;	-	ENST00000361547	Transcript	frameshift_variant	1186-1192/4334	1131-1137/1773	377-379/590	VIL/X	gtGATCCTG/gt		1		1	SEPN1	HGNC	HGNC:15999	protein_coding	YES	CCDS41282.1	ENSP00000355141	Q9NZV5		UPI00003761B2	NM_020451.2			9/13		hmmpanther:PTHR16213,hmmpanther:PTHR16213:SF78																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	41	25811729	25811729	GATCCTG	-	1	0	1	0	1	0	0	0	0	14332	1277	45	0		0	SEPN1	1	25811729	Frame_Shift_Del	DEL	GATCCTG	C3N-00199_TP	4532439	25811729	223144693	7	11670											
GPATCH3	0	.	GRCh38	chr1	26892434	26892434	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatccacgcttgcatctgggGtgttggccatcactatccag	8	11	10	12	1	2	0	1	0	1	0	4	0	4	0	3	3	1	3	3	3	2	3	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1338C>T	p.=	p.H446H	ENST00000361720	6/7	243	178	65	191	191	0	strelka-varscan-mutect	GPATCH3,synonymous_variant,p.=,ENST00000361720,NM_022078.2;GPATCH3,synonymous_variant,p.=,ENST00000450844,;GPATCH3,intron_variant,,ENST00000445019,;GPN2,upstream_gene_variant,,ENST00000374135,NM_018066.3;GPN2,upstream_gene_variant,,ENST00000431781,;GPN2,upstream_gene_variant,,ENST00000461282,;	A	ENST00000361720	Transcript	synonymous_variant	1362/2123	1338/1578	446/525	H	caC/caT		1		-1	GPATCH3	HGNC	HGNC:25720	protein_coding	YES	CCDS290.1	ENSP00000354645	Q96I76		UPI000003E830	NM_022078.2			6/7		Pfam_domain:PF01585,PROSITE_profiles:PS50174,hmmpanther:PTHR14390,hmmpanther:PTHR14390:SF2,SMART_domains:SM00443																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	41	26892434	26892434	G	A	1	0	0	0	0	0	0	0	1	6493	1252	44	3		3	GPATCH3	1	26892434	Silent	SNP	G	C3N-00199_TP	1080705	26892434	222063988	8	11671											
ZSCAN20	0	.	GRCh38	chr1	33491526	33491526	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacagatggcccaggagAggccgtggcacttcccaggc	9	4	14	14	1	0	2	0	0	0	2	1	3	1	2	4	5	1	1	4	5	0	1	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.1268A>T	p.Glu423Val	p.E423V	ENST00000361328	6/8	124	105	19	124	124	0	strelka-varscan-mutect	ZSCAN20,missense_variant,p.Glu423Val,ENST00000361328,NM_145238.3;ZSCAN20,missense_variant,p.Glu369Val,ENST00000373413,;ZSCAN20,downstream_gene_variant,,ENST00000480917,;	T	ENST00000361328	Transcript	missense_variant	1421/4316	1268/3132	423/1043	E/V	gAg/gTg		1		1	ZSCAN20	HGNC	HGNC:13093	protein_coding	YES	CCDS41300.1	ENSP00000355053	P17040		UPI0000D61EC5	NM_145238.3	deleterious(0.02)		6/8																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	41	33491526	33491526	A	T	1	0	0	0	0	1	0	0	0	18826	304	11	4		4	ZSCAN20	1	33491526	Missense_Mutation	SNP	A	C3N-00199_TP	6599092	33491526	215464896	9	11672											
DLGAP3	0	.	GRCh38	chr1	34899709	34899709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtagccagggatggagCtccgggggtggatccggggt	5	7	21	8	2	0	0	0	0	0	0	2	3	2	3	3	8	2	3	3	8	1	1	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1346G>T	p.Ser449Ile	p.S449I	ENST00000373347	5/12	321	207	114	260	260	0	strelka-varscan-mutect	DLGAP3,missense_variant,p.Ser449Ile,ENST00000373347,NM_001080418.2;DLGAP3,missense_variant,p.Ser449Ile,ENST00000235180,;	A	ENST00000373347	Transcript	missense_variant	1615/3856	1346/2940	449/979	S/I	aGc/aTc		1		-1	DLGAP3	HGNC	HGNC:30368	protein_coding	YES	CCDS30670.1	ENSP00000362444	O95886		UPI00003D4D81	NM_001080418.2	deleterious(0)		5/12		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF4																	MODERATE	1	SNV	5			1										PASS		rs1415973124	.												A	3	1	41	34899709	34899709	C	A	1	0	0	0	0	1	0	0	0	4368	797	28	2		2	DLGAP3	1	34899709	Missense_Mutation	SNP	C	C3N-00199_TP	1408183	34899709	214056713	10	11673											
COL8A2	0	.	GRCh38	chr1	36098403	36098403	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgaaacccggctcaccCttgggcccagttggtccagg	6	7	12	16	2	1	1	1	1	0	0	2	1	2	1	5	4	1	2	5	4	1	2	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1278G>C	p.Lys426Asn	p.K426N	ENST00000397799	4/4	541	438	103	570	570	0	strelka-varscan-mutect	COL8A2,missense_variant,p.Lys426Asn,ENST00000397799,NM_005202.3;COL8A2,missense_variant,p.Lys426Asn,ENST00000303143,;COL8A2,missense_variant,p.Lys361Asn,ENST00000481785,NM_001294347.1;COL8A2,intron_variant,,ENST00000615990,;ADPRHL2,downstream_gene_variant,,ENST00000373178,NM_017825.2;	G	ENST00000397799	Transcript	missense_variant	1503/4670	1278/2112	426/703	K/N	aaG/aaC		1		-1	COL8A2	HGNC	HGNC:2216	protein_coding	YES	CCDS403.1	ENSP00000380901	P25067		UPI00001B2F2D	NM_005202.3	deleterious(0.02)		4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF584																	MODERATE		SNV	5			1										PASS		rs1296516994	.												G	3	3	41	36098403	36098403	C	G	1	0	0	0	0	1	0	0	0	3495	680	24	4		4	COL8A2	1	36098403	Missense_Mutation	SNP	C	C3N-00199_TP	1198694	36098403	212858019	11	11674											
KDM4A	0	.	GRCh38	chr1	43669296	43669296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaggatggtcttaccttcCcaggttagttgactatggtg	7	15	12	7	0	1	2	0	2	1	0	2	3	2	3	2	4	1	2	2	4	3	6	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1360C>T	p.Pro454Ser	p.P454S	ENST00000372396	10/22	223	171	52	227	227	0	strelka-varscan-mutect	KDM4A,missense_variant,p.Pro454Ser,ENST00000372396,NM_014663.2;KDM4A,downstream_gene_variant,,ENST00000463151,;KDM4A,downstream_gene_variant,,ENST00000485249,;KDM4A,downstream_gene_variant,,ENST00000472265,;	T	ENST00000372396	Transcript	missense_variant	1494/4474	1360/3195	454/1064	P/S	Cca/Tca		1		1	KDM4A	HGNC	HGNC:22978	protein_coding	YES	CCDS491.1	ENSP00000361473	O75164		UPI000013D35A	NM_014663.2	tolerated(0.07)		10/22		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF32																	MODERATE	1	SNV	1			1										PASS		rs1301506786	.												T	3	4	41	43669296	43669296	C	T	1	0	0	0	0	1	0	0	0	8046	637	22	3		3	KDM4A	1	43669296	Missense_Mutation	SNP	C	C3N-00199_TP	7570893	43669296	205287126	12	11675											
C8A	0	.	GRCh38	chr1	56867621	56867621	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctttaggagagtaagacgGgcagctacacccgcagcagt	11	8	12	10	2	1	2	0	0	1	2	1	3	1	2	1	2	3	5	1	2	3	5			C3N-00199_TP	C3N-00199_NB	G	G																c.90G>A	p.=	p.R30R	ENST00000361249	2/11	326	265	61	390	390	0	strelka-varscan-mutect	C8A,synonymous_variant,p.=,ENST00000361249,NM_000562.2;	A	ENST00000361249	Transcript	synonymous_variant	186/2356	90/1755	30/584	R	cgG/cgA	COSM352926	1		1	C8A	HGNC	HGNC:1352	protein_coding	YES	CCDS606.1	ENSP00000354458	P07357		UPI0000127C5A	NM_000562.2			2/11		Low_complexity_(Seg):seg,hmmpanther:PTHR19325:SF385,hmmpanther:PTHR19325											1						LOW	1	SNV	1		1	1										PASS		rs1267332754	.												A	2	1	41	56867621	56867621	G	A	1	0	0	0	0	0	0	0	1	2150	1219	43	3		3	C8A	1	56867621	Silent	SNP	G	C3N-00199_TP	13198325	56867621	192088801	13	11676											
L1TD1	0	.	GRCh38	chr1	62207071	62207071	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgagtggtaaattagacaAcactaacgaatacaatagta	18	9	8	6	1	0	2	0	1	0	1	0	3	0	2	0	1	3	3	0	1	10	6	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.443A>G	p.Asn148Ser	p.N148S	ENST00000498273	3/4	68	47	21	227	227	0	strelka-varscan-mutect	L1TD1,missense_variant,p.Asn148Ser,ENST00000498273,NM_001164835.1,NM_019079.4;Y_RNA,upstream_gene_variant,,ENST00000363304,;RP5-1155K23.4,downstream_gene_variant,,ENST00000450606,;	G	ENST00000498273	Transcript	missense_variant	738/3849	443/2598	148/865	N/S	aAc/aGc		1		1	L1TD1	HGNC	HGNC:25595	protein_coding	YES	CCDS619.1	ENSP00000419901	Q5T7N2		UPI000013E18E	NM_001164835.1,NM_019079.4	deleterious(0.02)		3/4																			MODERATE	1	SNV	1			1										PASS		rs1337737887	.												G	3	3	41	62207071	62207071	A	G	1	0	0	0	0	1	0	0	0	8490	43	2	5		5	L1TD1	1	62207071	Missense_Mutation	SNP	A	C3N-00199_TP	5339450	62207071	186749351	14	11677											
DNAJC6	0	.	GRCh38	chr1	65405984	65405984	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgggtggcgggtggcagcAgggaggtgcctacaactggc	7	7	19	8	1	0	0	0	0	0	0	0	1	0	1	1	7	4	2	1	7	3	2	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.2342A>T	p.Gln781Leu	p.Q781L	ENST00000371069	16/19	345	298	47	312	312	0	strelka-varscan-mutect	DNAJC6,missense_variant,p.Gln711Leu,ENST00000263441,NM_001256865.1;DNAJC6,missense_variant,p.Gln724Leu,ENST00000395325,NM_014787.3;DNAJC6,missense_variant,p.Gln781Leu,ENST00000371069,NM_001256864.1;	T	ENST00000371069	Transcript	missense_variant	2543/5365	2342/2913	781/970	Q/L	cAg/cTg		1		1	DNAJC6	HGNC	HGNC:15469	protein_coding	YES	CCDS58004.1	ENSP00000360108	O75061		UPI000022AE8A	NM_001256864.1	tolerated(0.06)		16/19		Low_complexity_(Seg):seg,hmmpanther:PTHR23172:SF4,hmmpanther:PTHR23172																	MODERATE	1	SNV	1			1										PASS		rs1453709743	.												T	3	4	41	65405984	65405984	A	T	1	0	0	0	0	1	0	0	0	4466	188	7	4		4	DNAJC6	1	65405984	Missense_Mutation	SNP	A	C3N-00199_TP	3198913	65405984	183550438	15	11678											
TTLL7	0	.	GRCh38	chr1	83947125	83947125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaataaaagcaaacctaccCatgacccattgcaccattag	17	7	4	13	0	0	1	0	1	0	0	0	1	0	1	4	0	4	2	4	0	6	4	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.505G>T	p.Gly169Trp	p.G169W	ENST00000260505	6/21	39	31	8	137	137	0	strelka-varscan-mutect	TTLL7,missense_variant,p.Gly169Trp,ENST00000260505,NM_024686.4;TTLL7,missense_variant,p.Gly169Trp,ENST00000610996,;TTLL7,splice_region_variant,,ENST00000477524,;TTLL7,splice_region_variant,,ENST00000472688,;TTLL7,splice_region_variant,,ENST00000488014,;TTLL7,intron_variant,,ENST00000482783,;TTLL7,downstream_gene_variant,,ENST00000467670,;TTLL7,missense_variant,p.Gly169Trp,ENST00000480174,;TTLL7,missense_variant,p.Gly53Trp,ENST00000485638,;TTLL7,intron_variant,,ENST00000474957,;	A	ENST00000260505	Transcript	missense_variant,splice_region_variant	883/7976	505/2664	169/887	G/W	Ggg/Tgg		1		-1	TTLL7	HGNC	HGNC:26242	protein_coding	YES	CCDS690.2	ENSP00000260505	Q6ZT98		UPI000020391D	NM_024686.4	deleterious(0)		6/21		Pfam_domain:PF03133,PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF102,Superfamily_domains:SSF56059																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	41	83947125	83947125	C	A	1	0	0	0	0	1	0	0	0	17243	608	21	2		2	TTLL7	1	83947125	Missense_Mutation	SNP	C	C3N-00199_TP	18541141	83947125	165009297	16	11679											
LPAR3	0	.	GRCh38	chr1	84865506	84865506	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacacgtagatccgcaggtaCaccacaaccatgatgaggaa	15	6	9	11	2	0	3	0	2	0	1	1	4	1	4	3	2	3	3	3	2	5	3	rs370676637		C3N-00199_TP	C3N-00199_NB	C	C																c.615G>T	p.=	p.V205V	ENST00000440886	1/2	294	226	68	347	347	0	strelka-varscan-mutect	LPAR3,synonymous_variant,p.=,ENST00000440886,;LPAR3,synonymous_variant,p.=,ENST00000370611,NM_012152.2;LPAR3,non_coding_transcript_exon_variant,,ENST00000491034,;	A	ENST00000440886	Transcript	synonymous_variant	654/3345	615/1062	205/353	V	gtG/gtT	rs370676637	1		-1	LPAR3	HGNC	HGNC:14298	protein_coding	YES	CCDS700.1	ENSP00000395389	Q9UBY5		UPI000003CAC0				1/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF21,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs370676637	.												A	2	1	41	84865506	84865506	C	A	1	0	0	0	0	0	0	0	1	8809	465	17	2		2	LPAR3	1	84865506	Silent	SNP	C	C3N-00199_TP	918381	84865506	164090916	17	11680											
CLCA2	0	.	GRCh38	chr1	86447581	86447581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtgacagtgacctctcGcgcctccaactcagctgtgc	9	8	10	14	2	2	2	1	2	1	0	4	3	3	2	3	0	3	1	3	0	2	0	rs372198099		C3N-00199_TP	C3N-00199_NB	G	G																c.1787G>T	p.Arg596Leu	p.R596L	ENST00000370565	11/14	360	271	89	396	396	0	strelka-varscan-mutect	CLCA2,missense_variant,p.Arg596Leu,ENST00000370565,NM_006536.5;CLCA2,upstream_gene_variant,,ENST00000498802,;CLCA2,downstream_gene_variant,,ENST00000490884,;	T	ENST00000370565	Transcript	missense_variant	1949/4025	1787/2832	596/943	R/L	cGc/cTc	rs372198099	1		1	CLCA2	HGNC	HGNC:2016	protein_coding	YES	CCDS708.1	ENSP00000359596	Q9UQC9		UPI0000035838	NM_006536.5	deleterious(0)		11/14		Pfam_domain:PF08434,hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF66,TIGRFAM_domain:TIGR00868																	MODERATE	1	SNV	1			1										PASS		rs372198099	.												T	3	4	41	86447581	86447581	G	T	1	0	0	0	0	1	0	0	0	3222	1087	38	1		1	CLCA2	1	86447581	Missense_Mutation	SNP	G	C3N-00199_TP	1582075	86447581	162508841	18	11681											
STRIP1	0	.	GRCh38	chr1	110051843	110051843	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatgtctgccatctaccAgaaggtgcggcatcggctga	9	8	12	12	2	2	2	0	1	2	1	3	3	2	2	3	3	3	2	3	3	2	1	rs767414666		C3N-00199_TP	C3N-00199_NB	A	A																c.2222A>T	p.Gln741Leu	p.Q741L	ENST00000369795	20/21	292	251	41	286	286	0	strelka-varscan-mutect	STRIP1,missense_variant,p.Gln741Leu,ENST00000369795,NM_033088.3;STRIP1,missense_variant,p.Gln646Leu,ENST00000369796,NM_001270768.1;STRIP1,3_prime_UTR_variant,,ENST00000485775,;STRIP1,non_coding_transcript_exon_variant,,ENST00000473429,;STRIP1,downstream_gene_variant,,ENST00000461054,;	T	ENST00000369795	Transcript	missense_variant	2244/3265	2222/2514	741/837	Q/L	cAg/cTg	rs767414666	1		1	STRIP1	HGNC	HGNC:25916	protein_coding	YES	CCDS30798.1	ENSP00000358810	Q5VSL9		UPI0000160E65	NM_033088.3	deleterious(0.01)		20/21		Pfam_domain:PF11882,hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF5,SMART_domains:SM01293																	MODERATE	1	SNV	1			1										PASS		rs767414666	.												T	3	4	41	110051843	110051843	A	T	1	0	0	0	0	1	0	0	0	15710	188	7	4		4	STRIP1	1	110051843	Missense_Mutation	SNP	A	C3N-00199_TP	23604262	110051843	138904579	19	11682											
GJA8	0	.	GRCh38	chr1	147908159	147908159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaacgtctgctacgacgaGgcctttcccatctcccacat	9	9	8	15	3	2	1	0	0	2	1	4	4	3	1	3	1	3	1	3	1	2	2	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.204G>T	p.Glu68Asp	p.E68D	ENST00000369235	1/1	592	374	218	393	393	0	strelka-varscan-mutect	GJA8,missense_variant,p.Glu68Asp,ENST00000369235,NM_005267.4;	T	ENST00000369235	Transcript	missense_variant	204/1302	204/1302	68/433	E/D	gaG/gaT		1		1	GJA8	HGNC	HGNC:4281	protein_coding	YES	CCDS30834.1	ENSP00000358238	P48165	X5D7G1	UPI0000049BA0	NM_005267.4	deleterious(0.02)		1/1		Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF19,SMART_domains:SM00037																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	41	147908159	147908159	G	T	1	0	0	0	0	1	0	0	0	6284	991	35	2		2	GJA8	1	147908159	Missense_Mutation	SNP	G	C3N-00199_TP	37856316	147908159	101048263	20	11683											
ANP32E	0	.	GRCh38	chr1	150226725	150226725	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcttcctcttcctcCtcctcttcctcatatccttc	2	18	0	21	0	4	0	1	0	3	0	13	0	12	0	8	0	0	0	8	0	1	5	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.564G>A	p.=	p.E188E	ENST00000583931	5/7	156	148	8	207	204	3	varscan-mutect	ANP32E,missense_variant,p.Arg133Lys,ENST00000533654,NM_001280560.1;ANP32E,synonymous_variant,p.=,ENST00000583931,NM_001280559.1,NM_030920.4;ANP32E,synonymous_variant,p.=,ENST00000629042,;ANP32E,synonymous_variant,p.=,ENST00000616917,NM_001136479.2;ANP32E,synonymous_variant,p.=,ENST00000436748,NM_001136478.3;ANP32E,synonymous_variant,p.=,ENST00000369115,;ANP32E,synonymous_variant,p.=,ENST00000534437,;ANP32E,synonymous_variant,p.=,ENST00000534220,;ANP32E,intron_variant,,ENST00000369114,;ANP32E,downstream_gene_variant,,ENST00000532744,;	T	ENST00000583931	Transcript	synonymous_variant	934/3451	564/807	188/268	E	gaG/gaA		1		-1	ANP32E	HGNC	HGNC:16673	protein_coding	YES	CCDS946.1	ENSP00000463154	Q9BTT0		UPI0000071679	NM_001280559.1,NM_030920.4			5/7		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11375:SF5,hmmpanther:PTHR11375																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	41	150226725	150226725	C	T	1	0	0	0	0	0	0	0	1	816	681	24	3		3	ANP32E	1	150226725	Silent	SNP	C	C3N-00199_TP	2318566	150226725	98729697	21	11684											
LYSMD1	0	.	GRCh38	chr1	151160956	151160956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggtcagcggcacaggacCtaggactgctcgttgctgca	8	7	14	12	3	1	0	1	0	0	0	2	2	1	2	1	4	4	5	1	4	1	2	rs147702548		C3N-00199_TP	C3N-00199_NB	C	C																c.610G>T	p.Gly204Cys	p.G204C	ENST00000368908	3/3	332	208	124	212	211	1	strelka-varscan-mutect	LYSMD1,missense_variant,p.Gly204Cys,ENST00000368908,NM_212551.4;LYSMD1,missense_variant,p.Gly156Cys,ENST00000440902,NM_001136543.1;SCNM1,intron_variant,,ENST00000602841,NM_001204848.1;TNFAIP8L2,downstream_gene_variant,,ENST00000368910,NM_024575.4;	A	ENST00000368908	Transcript	missense_variant	1271/2479	610/684	204/227	G/C	Ggt/Tgt	rs147702548	1		-1	LYSMD1	HGNC	HGNC:32070	protein_coding	YES	CCDS986.1	ENSP00000357904	Q96S90		UPI000007311C	NM_212551.4	deleterious(0)		3/3		hmmpanther:PTHR20932:SF2,hmmpanther:PTHR20932																	MODERATE	1	SNV	1			1										PASS		rs147702548	.												A	3	1	41	151160956	151160956	C	A	1	0	0	0	0	1	0	0	0	9037	681	24	2		2	LYSMD1	1	151160956	Missense_Mutation	SNP	C	C3N-00199_TP	934231	151160956	97795466	22	11685											
LCE5A	0	.	GRCh38	chr1	152511885	152511885	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccacagctctggaggctgCtgctgacctgggccatgagg	6	8	15	12	0	1	2	0	2	1	0	1	3	1	3	3	4	4	4	3	4	0	0	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.351C>A	p.Cys117Ter	p.C117*	ENST00000334269	2/2	136	77	59	104	104	0	strelka-varscan-mutect	LCE5A,stop_gained,p.Cys117Ter,ENST00000334269,NM_178438.4;AL135842.1,intron_variant,,ENST00000624892,;CRCT1,upstream_gene_variant,,ENST00000368790,NM_019060.2;	A	ENST00000334269	Transcript	stop_gained	527/819	351/357	117/118	C/*	tgC/tgA		1		1	LCE5A	HGNC	HGNC:16614	protein_coding	YES	CCDS1011.1	ENSP00000333952	Q5TCM9		UPI00001615D7	NM_178438.4			2/2		hmmpanther:PTHR23263,Low_complexity_(Seg):seg																	HIGH		SNV	3			1										PASS		.	.												A	4	1	41	152511885	152511885	C	A	1	0	0	0	0	0	1	0	0	8580	805	28	2		2	LCE5A	1	152511885	Nonsense_Mutation	SNP	C	C3N-00199_TP	1350929	152511885	96444537	23	11686											
DENND4B	0	.	GRCh38	chr1	153932382	153932382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgactccagctccttaCgcagcaccagggggctcagg	8	5	12	16	2	1	0	1	0	0	0	3	1	3	0	4	3	4	4	4	3	1	1	rs367917095		C3N-00199_TP	C3N-00199_NB	C	C																c.3818G>T	p.Arg1273Leu	p.R1273L	ENST00000361217	24/28	409	308	101	248	248	0	strelka-varscan-mutect	DENND4B,missense_variant,p.Arg1273Leu,ENST00000361217,NM_014856.2;DENND4B,downstream_gene_variant,,ENST00000368646,;DENND4B,intron_variant,,ENST00000474386,;DENND4B,non_coding_transcript_exon_variant,,ENST00000480340,;DENND4B,non_coding_transcript_exon_variant,,ENST00000492898,;DENND4B,non_coding_transcript_exon_variant,,ENST00000462423,;DENND4B,downstream_gene_variant,,ENST00000531748,;DENND4B,downstream_gene_variant,,ENST00000477746,;	A	ENST00000361217	Transcript	missense_variant	4237/5706	3818/4491	1273/1496	R/L	cGt/cTt	rs367917095	1		-1	DENND4B	HGNC	HGNC:29044	protein_coding	YES	CCDS44228.1	ENSP00000354597	O75064		UPI000047EA3E	NM_014856.2	tolerated(0.07)		24/28		hmmpanther:PTHR12296:SF18,hmmpanther:PTHR12296																	MODERATE	1	SNV	1			1										PASS		rs367917095	.												A	3	1	41	153932382	153932382	C	A	1	0	0	0	0	1	0	0	0	4238	536	19	1		1	DENND4B	1	153932382	Missense_Mutation	SNP	C	C3N-00199_TP	1420497	153932382	95024040	24	11687											
CHRNB2	0	.	GRCh38	chr1	154575889	154575889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccagaactacaccaccaCcaccttcctccactcagacc	11	7	2	21	0	1	2	1	0	0	2	4	2	4	2	8	0	2	0	8	0	2	3	rs754372558		C3N-00199_TP	C3N-00199_NB	C	C																c.1466C>A	p.Thr489Asn	p.T489N	ENST00000368476	6/6	1007	771	236	685	684	1	strelka-varscan-mutect	CHRNB2,missense_variant,p.Thr489Asn,ENST00000368476,NM_000748.2;CHRNB2,missense_variant,p.Thr491Asn,ENST00000637900,;RP11-61L14.6,downstream_gene_variant,,ENST00000421866,;CHRNB2,upstream_gene_variant,,ENST00000635876,;CHRNB2,missense_variant,p.Thr489Asn,ENST00000636034,;	A	ENST00000368476	Transcript	missense_variant	1730/5867	1466/1509	489/502	T/N	aCc/aAc	rs754372558	1		1	CHRNB2	HGNC	HGNC:1962	protein_coding	YES	CCDS1070.1	ENSP00000357461	P17787	Q5SXY3	UPI000012526E	NM_000748.2	tolerated(0.55)		6/6																			MODERATE	1	SNV	1			1										PASS		rs754372558	.												A	3	1	41	154575889	154575889	C	A	1	0	0	0	0	1	0	0	0	3151	507	18	2		2	CHRNB2	1	154575889	Missense_Mutation	SNP	C	C3N-00199_TP	643507	154575889	94380533	25	11688											
CD84	0	.	GRCh38	chr1	160554136	160554136	+	Silent	SNP	C	C	A																															ctctgtgtaatttttggtttCccaagccgacctgtgggggc																								rs147226343		C3N-00199_TP	C3N-00199_NB	C	C																c.399G>T	p.=	p.G133G	ENST00000311224	3/8	51	31	20	86	86	0	strelka-varscan-mutect	CD84,synonymous_variant,p.=,ENST00000368054,NM_003874.3;CD84,synonymous_variant,p.=,ENST00000534968,NM_001184882.1;CD84,synonymous_variant,p.=,ENST00000311224,NM_001184879.1;CD84,synonymous_variant,p.=,ENST00000368048,;CD84,synonymous_variant,p.=,ENST00000368051,NM_001184881.1;RP11-528G1.2,intron_variant,,ENST00000446952,;CD84,non_coding_transcript_exon_variant,,ENST00000368047,;CD84,upstream_gene_variant,,ENST00000466767,;CD84,non_coding_transcript_exon_variant,,ENST00000360056,;	A	ENST00000311224	Transcript	synonymous_variant	466/1116	399/1038	133/345	G	ggG/ggT	rs147226343,COSM106999	1		-1	CD84	HGNC	HGNC:1704	protein_coding	YES	CCDS53396.1	ENSP00000312367	Q9UIB8		UPI0000071B5F	NM_001184879.1			3/8		hmmpanther:PTHR12080:SF50,hmmpanther:PTHR12080,Gene3D:2.60.40.10,Superfamily_domains:SSF48726											1,1						LOW	1	SNV	1		0,1	1										PASS		rs147226343	.												A	2	1	41	160554136	160554136	C	A	1	0	0	0	0	0	0	0	1	2746	842	30	2		2	CD84	1	160554136	Silent	SNP	C	C3N-00199_TP	5978247	160554136	88402286	26	11689	265	2									
CD84	0	.	GRCh38	chr1	160554137	160554137	+	Missense_Mutation	SNP	C	C	A																															tctgtgtaatttttggtttcCcaagccgacctgtgggggca																								novel		C3N-00199_TP	C3N-00199_NB	C	C																c.398G>T	p.Gly133Val	p.G133V	ENST00000311224	3/8	49	29	20	83	83	0	strelka-varscan-mutect	CD84,missense_variant,p.Gly133Val,ENST00000368054,NM_003874.3;CD84,missense_variant,p.Gly19Val,ENST00000534968,NM_001184882.1;CD84,missense_variant,p.Gly133Val,ENST00000311224,NM_001184879.1;CD84,missense_variant,p.Gly133Val,ENST00000368048,;CD84,missense_variant,p.Gly133Val,ENST00000368051,NM_001184881.1;RP11-528G1.2,intron_variant,,ENST00000446952,;CD84,non_coding_transcript_exon_variant,,ENST00000368047,;CD84,upstream_gene_variant,,ENST00000466767,;CD84,non_coding_transcript_exon_variant,,ENST00000360056,;	A	ENST00000311224	Transcript	missense_variant	465/1116	398/1038	133/345	G/V	gGg/gTg		1		-1	CD84	HGNC	HGNC:1704	protein_coding	YES	CCDS53396.1	ENSP00000312367	Q9UIB8		UPI0000071B5F	NM_001184879.1	deleterious(0.01)		3/8		hmmpanther:PTHR12080:SF50,hmmpanther:PTHR12080,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	160554137	160554137	C	A	1	0	0	0	0	1	0	0	0	2746	623	22	2		2	CD84	1	160554137	Missense_Mutation	SNP	C	C3N-00199_TP	1	160554137	88402285	27	11690	265	2									
DUSP27	0	.	GRCh38	chr1	167126465	167126465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgggagagcgtgagcaGccacgacatctgggtcctga	8	6	15	12	3	1	3	0	2	1	1	2	5	2	3	3	2	3	1	3	2	0	0			C3N-00199_TP	C3N-00199_NB	G	G																c.1334G>T	p.Ser445Ile	p.S445I	ENST00000361200	6/6	166	104	62	121	121	0	strelka-varscan-mutect	DUSP27,missense_variant,p.Ser445Ile,ENST00000361200,;DUSP27,missense_variant,p.Ser445Ile,ENST00000443333,NM_001080426.1;DUSP27,missense_variant,p.Ser445Ile,ENST00000271385,;GPA33,intron_variant,,ENST00000632571,;DUSP27,intron_variant,,ENST00000485151,;	T	ENST00000361200	Transcript	missense_variant	1500/4164	1334/3477	445/1158	S/I	aGc/aTc	COSM4024783	1		1	DUSP27	HGNC	HGNC:25034	protein_coding	YES	CCDS30932.1	ENSP00000354483	Q5VZP5		UPI000040DFF5		deleterious(0)		6/6		Low_complexity_(Seg):seg											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	41	167126465	167126465	G	T	1	0	0	0	0	1	0	0	0	4646	971	34	2		2	DUSP27	1	167126465	Missense_Mutation	SNP	G	C3N-00199_TP	6572328	167126465	81829957	28	11691											
MROH9	0	.	GRCh38	chr1	171062140	171062140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatgtgcataggatatttgGcaaaatcaggtggtcattta	12	15	10	4	0	2	0	2	0	0	0	2	1	2	1	0	4	1	2	0	4	6	6	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.2290G>T	p.Ala764Ser	p.A764S	ENST00000367759	21/22	75	62	13	146	146	0	strelka-varscan-mutect	MROH9,missense_variant,p.Ala764Ser,ENST00000367759,NM_001163629.1;	T	ENST00000367759	Transcript	missense_variant	2444/3165	2290/2586	764/861	A/S	Gca/Tca		1		1	MROH9	HGNC	HGNC:26287	protein_coding	YES	CCDS53429.1	ENSP00000356733	Q5TGP6		UPI0001B09232	NM_001163629.1	deleterious(0.04)		21/22		Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF5,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	41	171062140	171062140	G	T	1	0	0	0	0	1	0	0	0	9748	1203	42	2		2	MROH9	1	171062140	Missense_Mutation	SNP	G	C3N-00199_TP	3935675	171062140	77894282	29	11692											
TNR	0	.	GRCh38	chr1	175359720	175359720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtagcaatcagatccacagGgttgtccatggctgaaacag	12	8	12	9	0	1	2	1	1	0	1	3	2	3	2	2	3	2	4	2	3	3	2	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.2866C>A	p.Pro956Thr	p.P956T	ENST00000367674	15/23	131	77	54	144	144	0	strelka-varscan-mutect	TNR,missense_variant,p.Pro956Thr,ENST00000367674,;TNR,missense_variant,p.Pro956Thr,ENST00000263525,NM_003285.2;	T	ENST00000367674	Transcript	missense_variant	3575/12949	2866/4077	956/1358	P/T	Cct/Act		1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C		deleterious(0)		15/23		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF254,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	41	175359720	175359720	G	T	1	0	0	0	0	1	0	0	0	16811	1232	43	2		2	TNR	1	175359720	Missense_Mutation	SNP	G	C3N-00199_TP	4297580	175359720	73596702	30	11693											
PAPPA2	0	.	GRCh38	chr1	176556442	176556442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggttgagagggaacacctGaatcaggtgctgttggaagg	10	10	16	5	0	1	2	1	2	0	1	1	5	1	4	1	5	2	3	1	5	3	3			C3N-00199_TP	C3N-00199_NB	G	G																c.120G>A	p.=	p.L40L	ENST00000367662	2/23	397	266	131	306	306	0	strelka-varscan-mutect	PAPPA2,synonymous_variant,p.=,ENST00000367662,NM_020318.2;PAPPA2,synonymous_variant,p.=,ENST00000367661,NM_021936.2;PAPPA2,downstream_gene_variant,,ENST00000486075,;PAPPA2,downstream_gene_variant,,ENST00000493665,;	A	ENST00000367662	Transcript	synonymous_variant	1284/9691	120/5376	40/1791	L	ctG/ctA	COSM4430003,COSM4430004	1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2			2/23													1,1						LOW	1	SNV	1		1,1	1										PASS		rs1245048813	.												A	2	1	41	176556442	176556442	G	A	1	0	0	0	0	0	0	0	1	11513	1277	45	3		3	PAPPA2	1	176556442	Silent	SNP	G	C3N-00199_TP	1196722	176556442	72399980	31	11694											
ASTN1	0	.	GRCh38	chr1	177023566	177023566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctccagcaagatgaagcGgctccctgcagggtgagaga	10	5	13	13	1	0	4	0	2	0	2	2	5	2	4	4	2	3	3	4	2	2	0	rs201453556		C3N-00199_TP	C3N-00199_NB	G	G																c.1276C>A	p.Arg426Ser	p.R426S	ENST00000361833	7/23	118	83	35	55	55	0	strelka-varscan-mutect	ASTN1,missense_variant,p.Arg426Ser,ENST00000361833,NM_004319.2;ASTN1,missense_variant,p.Arg426Ser,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Arg426Ser,ENST00000424564,NM_207108.2;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;ASTN1,intron_variant,,ENST00000473640,;	T	ENST00000361833	Transcript	missense_variant	1290/7116	1276/3885	426/1294	R/S	Cgc/Agc	rs201453556	1		-1	ASTN1	HGNC	HGNC:773	protein_coding	YES	CCDS1319.1	ENSP00000354536	O14525		UPI0000160388	NM_004319.2	tolerated(0.77)		7/23		hmmpanther:PTHR16592:SF8,hmmpanther:PTHR16592																	MODERATE	1	SNV	1			1										PASS		rs201453556	.												T	3	4	41	177023566	177023566	G	T	1	0	0	0	0	1	0	0	0	1211	1130	39	1		1	ASTN1	1	177023566	Missense_Mutation	SNP	G	C3N-00199_TP	467124	177023566	71932856	32	11695											
HMCN1	0	.	GRCh38	chr1	186108513	186108513	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggatatcactgtgttacgGaacagacaagtgacattgga	13	9	12	7	2	1	2	1	1	0	1	1	5	1	5	0	3	2	1	0	3	4	3	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.10905G>T	p.=	p.R3635R	ENST00000271588	71/107	325	280	45	537	537	0	strelka-varscan-mutect	HMCN1,synonymous_variant,p.=,ENST00000271588,NM_031935.2;	T	ENST00000271588	Transcript	synonymous_variant	11134/18208	10905/16908	3635/5635	R	cgG/cgT		1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2			71/107		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF678,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	41	186108513	186108513	G	T	1	0	0	0	0	0	0	0	1	7111	1161	41	2		2	HMCN1	1	186108513	Silent	SNP	G	C3N-00199_TP	9084947	186108513	62847909	33	11696											
LHX9	0	.	GRCh38	chr1	197929095	197929095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgacggcacgtcgcttccgGccccgccctcagcagacagc	6	5	11	19	5	1	2	1	1	0	1	3	2	2	2	4	2	2	3	4	2	0	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1030G>T	p.Ala344Ser	p.A344S	ENST00000367387	5/5	721	345	376	381	381	0	strelka-varscan-mutect	LHX9,missense_variant,p.Ala344Ser,ENST00000367387,NM_020204.2;LHX9,missense_variant,p.Ala335Ser,ENST00000367390,NM_001014434.1;LHX9,intron_variant,,ENST00000561173,;LHX9,intron_variant,,ENST00000367391,;	T	ENST00000367387	Transcript	missense_variant	1455/7836	1030/1194	344/397	A/S	Gcc/Tcc		1		1	LHX9	HGNC	HGNC:14222	protein_coding	YES	CCDS1393.1	ENSP00000356357	Q9NQ69		UPI00001B6453	NM_020204.2	tolerated(1)		5/5		hmmpanther:PTHR24208																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	197929095	197929095	G	T	1	0	0	0	0	1	0	0	0	8686	1203	42	2		2	LHX9	1	197929095	Missense_Mutation	SNP	G	C3N-00199_TP	11820582	197929095	51027327	34	11697											
DYRK3	0	.	GRCh38	chr1	206648059	206648059	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaaccatgtttgcatggcCtttgaattgctgagcataga	10	12	11	8	1	0	3	0	2	0	1	0	4	0	4	2	2	4	4	2	2	3	4	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.861C>G	p.=	p.A287A	ENST00000367109	3/3	200	92	108	251	251	0	strelka-varscan-mutect	DYRK3,synonymous_variant,p.=,ENST00000367106,;DYRK3,synonymous_variant,p.=,ENST00000367108,NM_001004023.1;DYRK3,synonymous_variant,p.=,ENST00000367109,NM_003582.2;DYRK3,downstream_gene_variant,,ENST00000441486,;DYRK3,intron_variant,,ENST00000489878,;	G	ENST00000367109	Transcript	synonymous_variant	1029/2163	861/1767	287/588	A	gcC/gcG		1		1	DYRK3	HGNC	HGNC:3094	protein_coding	YES	CCDS30999.1	ENSP00000356076	O43781		UPI0000071267	NM_003582.2			3/3		PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF35,hmmpanther:PTHR24058,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	41	206648059	206648059	C	G	1	0	0	0	0	0	0	0	1	4681	668	24	4		4	DYRK3	1	206648059	Silent	SNP	C	C3N-00199_TP	8718964	206648059	42308363	35	11698											
TRAF3IP3	0	.	GRCh38	chr1	209763073	209763073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcttctctttccagttacgGagttgcagttctggataagg	7	16	10	8	1	3	0	0	0	3	0	5	2	4	2	1	3	2	4	1	3	2	7			C3N-00199_TP	C3N-00199_NB	G	G																c.557G>A	p.Gly186Glu	p.G186E	ENST00000367024	6/17	177	157	20	243	243	0	strelka-varscan-mutect	TRAF3IP3,missense_variant,p.Gly186Glu,ENST00000367024,NM_001320143.1;TRAF3IP3,missense_variant,p.Gly186Glu,ENST00000367025,NM_025228.3;TRAF3IP3,missense_variant,p.Gly166Glu,ENST00000367026,NM_001320144.1;TRAF3IP3,missense_variant,p.Gly166Glu,ENST00000400959,;TRAF3IP3,downstream_gene_variant,,ENST00000479796,;TRAF3IP3,downstream_gene_variant,,ENST00000468672,;TRAF3IP3,missense_variant,p.Gly186Glu,ENST00000478359,;	A	ENST00000367024	Transcript	missense_variant	1073/2331	557/1656	186/551	G/E	gGa/gAa	COSM5677586,COSM5677587	1		1	TRAF3IP3	HGNC	HGNC:30766	protein_coding	YES	CCDS1490.2	ENSP00000355991	Q9Y228		UPI00005190E1	NM_001320143.1	deleterious(0)		6/17		hmmpanther:PTHR15715:SF21,hmmpanther:PTHR15715											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												A	3	1	41	209763073	209763073	G	A	1	0	0	0	0	1	0	0	0	16925	1188	41	3		3	TRAF3IP3	1	209763073	Missense_Mutation	SNP	G	C3N-00199_TP	3115014	209763073	39193349	36	11699											
RD3	0	.	GRCh38	chr1	211479152	211479152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgaagggcgagatgcGcgcgcgggtcttgaaggtgg	6	6	21	8	6	1	2	0	1	1	1	1	4	1	2	0	5	1	1	0	5	2	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.472C>A	p.Arg158Ser	p.R158S	ENST00000367002	3/3	340	255	85	265	265	0	strelka-varscan-mutect	RD3,missense_variant,p.Arg158Ser,ENST00000367002,NM_001164688.1,NM_183059.2;RD3,non_coding_transcript_exon_variant,,ENST00000484910,;	T	ENST00000367002	Transcript	missense_variant	1636/4266	472/588	158/195	R/S	Cgc/Agc		1		-1	RD3	HGNC	HGNC:19689	protein_coding	YES	CCDS1498.1	ENSP00000355969	Q7Z3Z2		UPI00001BB29F	NM_001164688.1,NM_183059.2	deleterious(0)		3/3		hmmpanther:PTHR28489,hmmpanther:PTHR28489:SF1,PD822638																	MODERATE	1	SNV	1			1										PASS		rs1047786307	.												T	3	4	41	211479152	211479152	G	T	1	0	0	0	0	1	0	0	0	13357	1087	38	1		1	RD3	1	211479152	Missense_Mutation	SNP	G	C3N-00199_TP	1716079	211479152	37477270	37	11700											
BATF3	0	.	GRCh38	chr1	212699695	212699695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgcggctgcggctgcGgctggttcccgggcgccgcg	0	7	19	15	7	0	0	0	0	0	0	1	0	1	0	2	5	4	6	2	5	0	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.68C>T	p.Pro23Leu	p.P23L	ENST00000243440	1/3	72	63	9	26	26	0	strelka-mutect	BATF3,missense_variant,p.Pro23Leu,ENST00000243440,NM_018664.2;BATF3,upstream_gene_variant,,ENST00000478275,;	A	ENST00000243440	Transcript	missense_variant	291/980	68/384	23/127	P/L	cCg/cTg		1		-1	BATF3	HGNC	HGNC:28915	protein_coding	YES	CCDS1508.1	ENSP00000243440	Q9NR55		UPI000006F080	NM_018664.2	deleterious_low_confidence(0.03)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR23351:SF13,hmmpanther:PTHR23351																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	212699695	212699695	G	A	1	0	0	0	0	1	0	0	0	1472	1116	39	1		1	BATF3	1	212699695	Missense_Mutation	SNP	G	C3N-00199_TP	1220543	212699695	36256727	38	11701											
ZC3H11B	0	.	GRCh38	chr1	219611129	219611129	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgttagtttctggagcttCaactttcttccctagcctct	6	17	7	11	0	4	0	1	0	3	0	5	1	5	1	2	1	3	3	2	1	3	6	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.934G>T	p.Glu312Ter	p.E312*	ENST00000636126	2/2	202	159	43	450	450	0	strelka-varscan-mutect	ZC3H11B,stop_gained,p.Glu312Ter,ENST00000636126,;ZC3H11B,stop_gained,p.Glu312Ter,ENST00000367211,;	A	ENST00000636126	Transcript	stop_gained	1650/4432	934/2418	312/805	E/*	Gaa/Taa		1		-1	ZC3H11B	HGNC	HGNC:25659	protein_coding	YES		ENSP00000489836			UPI000013E86C				2/2		hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2																	HIGH	1	SNV				1										PASS		.	.												A	4	1	41	219611129	219611129	C	A	1	0	0	0	0	0	1	0	0	18135	835	29	2		2	ZC3H11B	1	219611129	Nonsense_Mutation	SNP	C	C3N-00199_TP	6911434	219611129	29345293	39	11702											
H3F3A	0	.	GRCh38	chr1	226065808	226065808	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagctatcggtgctttgcAggtaaaatggtgggtgggaa	9	10	16	6	2	0	0	0	0	0	0	1	1	0	1	0	5	3	5	0	5	4	3	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.281A>T	p.Gln94Leu	p.Q94L	ENST00000366813	2/3	123	89	34	189	189	0	strelka-varscan-mutect	H3F3A,missense_variant,p.Gln94Leu,ENST00000366814,;H3F3A,missense_variant,p.Gln94Leu,ENST00000366813,;H3F3A,missense_variant,p.Gln94Leu,ENST00000366815,NM_002107.4;H3F3A,missense_variant,p.Gln94Leu,ENST00000366816,;RP11-396C23.4,upstream_gene_variant,,ENST00000609423,;	T	ENST00000366813	Transcript	missense_variant,splice_region_variant	656/1308	281/411	94/136	Q/L	cAg/cTg		1		1	H3F3A	HGNC	HGNC:4764	protein_coding	YES	CCDS1550.1	ENSP00000355778	P84243	B2R4P9	UPI00000007B0		deleterious_low_confidence(0.02)		2/3		hmmpanther:PTHR11426,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	226065808	226065808	A	T	1	0	0	0	0	1	0	0	0	6815	202	7	4		4	H3F3A	1	226065808	Missense_Mutation	SNP	A	C3N-00199_TP	6454679	226065808	22890614	40	11703											
AGT	0	.	GRCh38	chr1	230706091	230706091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagttgtcctggatgtcactCcagtgctggaaggtgcccat	8	11	12	10	0	1	0	1	0	0	0	3	2	3	2	3	3	2	2	3	3	2	1	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.966G>T	p.Trp322Cys	p.W322C	ENST00000366667	3/5	472	359	113	475	475	0	strelka-varscan-mutect	AGT,missense_variant,p.Trp322Cys,ENST00000366667,NM_000029.3;RP11-99J16__A.2,downstream_gene_variant,,ENST00000412344,;	A	ENST00000366667	Transcript	missense_variant	1181/2291	966/1458	322/485	W/C	tgG/tgT		1		-1	AGT	HGNC	HGNC:333	protein_coding	YES	CCDS1585.1	ENSP00000355627	P01019	B0ZBE2	UPI0000125B13	NM_000029.3	deleterious(0.01)		3/5		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF13,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	230706091	230706091	C	A	1	0	0	0	0	1	0	0	0	478	856	30	2		2	AGT	1	230706091	Missense_Mutation	SNP	C	C3N-00199_TP	4640283	230706091	18250331	41	11704											
LYST	0	.	GRCh38	chr1	235733842	235733842	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcttacctttgttgattaTtgttaactgttttctgccaa	9	20	5	7	0	2	1	0	1	2	0	2	1	2	1	2	0	3	3	2	0	5	8			C3N-00199_TP	C3N-00199_NB	T	T																c.8600A>T	p.Asn2867Ile	p.N2867I	ENST00000389793	33/53	71	48	23	172	172	0	strelka-varscan-mutect	LYST,missense_variant,p.Asn2867Ile,ENST00000389793,NM_000081.3,NM_001301365.1;LYST,3_prime_UTR_variant,,ENST00000389794,;LYST,non_coding_transcript_exon_variant,,ENST00000473037,;LYST,downstream_gene_variant,,ENST00000461526,;LDHAP2,upstream_gene_variant,,ENST00000437325,;	A	ENST00000389793	Transcript	missense_variant	8775/13480	8600/11406	2867/3801	N/I	aAt/aTt	COSM1601940	1		-1	LYST	HGNC	HGNC:1968	protein_coding	YES	CCDS31062.1	ENSP00000374443	Q99698		UPI000020509E	NM_000081.3,NM_001301365.1	tolerated(0.08)		33/53		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF86											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	41	235733842	235733842	T	A	1	0	0	0	0	1	0	0	0	9041	1493	52	4		4	LYST	1	235733842	Missense_Mutation	SNP	T	C3N-00199_TP	5027751	235733842	13222580	42	11705											
RYR2	0	.	GRCh38	chr1	237700334	237700334	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggaaaacctcaagcagggCcagttcactcacacccgaaa	15	5	8	13	1	3	0	3	0	0	0	3	2	3	1	3	2	2	2	3	2	4	1	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.9234C>A	p.=	p.G3078G	ENST00000366574	65/105	280	229	51	361	360	1	strelka-varscan-mutect	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	A	ENST00000366574	Transcript	synonymous_variant	9551/16562	9234/14904	3078/4967	G	ggC/ggA		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			65/105		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	41	237700334	237700334	C	A	1	0	0	0	0	0	0	0	1	14029	726	26	2		2	RYR2	1	237700334	Silent	SNP	C	C3N-00199_TP	1966492	237700334	11256088	43	11706											
PLD5	0	.	GRCh38	chr1	242265439	242265439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagcaacttttcaaaaaGacgttgaccctggaaaaaat	16	9	8	8	1	1	2	1	1	0	1	1	4	1	4	1	2	2	2	1	2	6	3			C3N-00199_TP	C3N-00199_NB	G	G																c.505C>A	p.Leu169Ile	p.L169I	ENST00000536534	4/10	75	54	21	170	170	0	strelka-varscan-mutect	PLD5,missense_variant,p.Leu169Ile,ENST00000536534,;PLD5,missense_variant,p.Leu169Ile,ENST00000442594,NM_001320272.1,NM_152666.2;PLD5,missense_variant,p.Leu107Ile,ENST00000427495,NM_001195812.1,NM_001195811.1;PLD5,missense_variant,p.Leu107Ile,ENST00000459864,;PLD5,upstream_gene_variant,,ENST00000474177,;PLD5,missense_variant,p.Leu169Ile,ENST00000467561,;PLD5,3_prime_UTR_variant,,ENST00000314833,;PLD5,3_prime_UTR_variant,,ENST00000366545,;	T	ENST00000536534	Transcript	missense_variant	747/8721	505/1611	169/536	L/I	Ctt/Att	COSM1584326,COSM4868403,COSM906545	1		-1	PLD5	HGNC	HGNC:26879	protein_coding	YES	CCDS1621.2	ENSP00000440896	Q8N7P1		UPI000040E1A4		tolerated(0.58)		4/10		hmmpanther:PTHR10185:SF9,hmmpanther:PTHR10185,Gene3D:3.30.870.10,Superfamily_domains:SSF56024											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	41	242265439	242265439	G	T	1	0	0	0	0	1	0	0	0	12143	942	33	2		2	PLD5	1	242265439	Missense_Mutation	SNP	G	C3N-00199_TP	4565105	242265439	6690983	44	11707											
OR1C1	0	.	GRCh38	chr1	247758249	247758249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataggggaatggaggtgaGagtcaaagccaatcgtcgca	14	6	14	7	2	1	1	1	1	0	1	3	4	1	3	1	4	1	1	1	4	4	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.158C>A	p.Ser53Tyr	p.S53Y	ENST00000408896	1/1	182	128	54	345	345	0	strelka-varscan-mutect	OR1C1,missense_variant,p.Ser53Tyr,ENST00000408896,NM_012353.2;	T	ENST00000408896	Transcript	missense_variant	158/945	158/945	53/314	S/Y	tCt/tAt		1		-1	OR1C1	HGNC	HGNC:8182	protein_coding	YES	CCDS41481.1	ENSP00000386138	Q15619	A0A126GV94	UPI000004B1DC	NM_012353.2	deleterious(0.03)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF388,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1182521036	.												T	3	4	41	247758249	247758249	G	T	1	0	0	0	0	1	0	0	0	11029	942	33	2		2	OR1C1	1	247758249	Missense_Mutation	SNP	G	C3N-00199_TP	5492810	247758249	1198173	45	11708											
OR2W3	0	.	GRCh38	chr1	247895801	247895801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttccttcctggacctcaGtttcaccaccagctccatcc	6	12	4	19	0	2	0	2	0	0	0	6	1	6	1	8	1	1	2	8	1	0	3	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.215G>T	p.Ser72Ile	p.S72I	ENST00000360358	1/1	254	191	63	231	231	0	strelka-varscan-mutect	OR2W3,missense_variant,p.Ser72Ile,ENST00000360358,NM_001001957.2;	T	ENST00000360358	Transcript	missense_variant	215/945	215/945	72/314	S/I	aGt/aTt		1		1	OR2W3	HGNC	HGNC:15021	protein_coding	YES	CCDS31099.1	ENSP00000353516	Q7Z3T1		UPI0000061EA8	NM_001001957.2	deleterious(0)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF223,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	41	247895801	247895801	G	T	1	0	0	0	0	1	0	0	0	11111	1029	36	2		2	OR2W3	1	247895801	Missense_Mutation	SNP	G	C3N-00199_TP	137552	247895801	1060621	46	11709											
OR2W3	0	.	GRCh38	chr1	247896431	247896431	+	Frame_Shift_Del	DEL	C	C	-																															gctcttctacaacattgtcaCccccctcctcaatcctctca																										C3N-00199_TP	C3N-00199_NB	C	C																c.850delC	p.Leu284SerfsTer14	p.L284Sfs*14	ENST00000360358	1/1	210	157	53	222	222	0	sindel-varindel-pindel	OR2W3,frameshift_variant,p.Leu284SerfsTer14,ENST00000360358,NM_001001957.2;	-	ENST00000360358	Transcript	frameshift_variant	845/945	845/945	282/314	T/X	aCc/ac	COSM293658	1		1	OR2W3	HGNC	HGNC:15021	protein_coding	YES	CCDS31099.1	ENSP00000353516	Q7Z3T1		UPI0000061EA8	NM_001001957.2			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF223,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						HIGH	1	deletion		5	1	1										PASS		.	.												-	7	5	41	247896431	247896431	C	-	1	0	1	0	1	0	0	0	0	11111	507	18	0		0	OR2W3	1	247896431	Frame_Shift_Del	DEL	C	C3N-00199_TP	630	247896431	1059991	47	11710											
OR2AK2	0	.	GRCh38	chr1	247966117	247966117	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctcccacctgattgtGgcaagcctgttctatgcaac	7	13	8	13	0	1	1	0	1	1	0	3	1	3	1	4	1	3	4	4	1	3	4	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.786G>T	p.=	p.V262V	ENST00000366480	1/1	162	122	40	306	306	0	strelka-varscan-mutect	OR2AK2,synonymous_variant,p.=,ENST00000366480,NM_001004491.1;	T	ENST00000366480	Transcript	synonymous_variant	885/1107	786/1008	262/335	V	gtG/gtT		1		1	OR2AK2	HGNC	HGNC:19569	protein_coding	YES	CCDS31102.1	ENSP00000355436	Q8NG84		UPI00003B2873	NM_001004491.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF299,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	41	247966117	247966117	G	T	1	0	0	0	0	0	0	0	1	11064	1335	47	2		2	OR2AK2	1	247966117	Silent	SNP	G	C3N-00199_TP	69686	247966117	990305	48	11711											
OR2L2	0	.	GRCh38	chr1	248038386	248038386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttcctaatggctctaattgGaaatctatccatgattcttc	10	17	5	9	0	3	1	0	1	3	0	6	2	5	2	2	2	0	1	2	2	4	7	rs553489526		C3N-00199_TP	C3N-00199_NB	G	G																c.119G>T	p.Gly40Val	p.G40V	ENST00000366479	1/1	95	72	23	253	253	0	strelka-varscan-mutect	OR2L2,missense_variant,p.Gly40Val,ENST00000366479,NM_001004686.2;	T	ENST00000366479	Transcript	missense_variant	119/939	119/939	40/312	G/V	gGa/gTa	rs553489526,COSM425901	1		1	OR2L2	HGNC	HGNC:8266	protein_coding	YES	CCDS31103.1	ENSP00000355435	Q8NH16	A0A126GW34	UPI0000061EAA	NM_001004686.2	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF189,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV			0,1	1										PASS		rs553489526	.												T	3	4	41	248038386	248038386	G	T	1	0	0	0	0	1	0	0	0	11085	1174	41	2		2	OR2L2	1	248038386	Missense_Mutation	SNP	G	C3N-00199_TP	72269	248038386	918036	49	11712											
OR2T1	0	.	GRCh38	chr1	248406399	248406399	+	Nonsense_Mutation	SNP	C	C	A																															cctaagatgctggttaattaCctgctggatcaaaggaccat																										C3N-00199_TP	C3N-00199_NB	C	C																c.405C>A	p.Tyr135Ter	p.Y135*	ENST00000366474	1/1	206	160	46	367	367	0	strelka-varscan-mutect	OR2T1,stop_gained,p.Tyr135Ter,ENST00000366474,NM_030904.1;	A	ENST00000366474	Transcript	stop_gained	405/1110	405/1110	135/369	Y/*	taC/taA	COSM680363	1		1	OR2T1	HGNC	HGNC:8277	protein_coding	YES	CCDS31115.1	ENSP00000355430	O43869	A0A126GVY3	UPI00003B2872	NM_030904.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF125,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						HIGH	1	SNV			1	1										PASS		rs1296415026	.												A	4	1	41	248406399	248406399	C	A	1	0	0	0	0	0	1	0	0	11094	518	18	2		2	OR2T1	1	248406399	Nonsense_Mutation	SNP	C	C3N-00199_TP	368013	248406399	550023	50	11713	266	2									
OR2T1	0	.	GRCh38	chr1	248406400	248406400	+	Missense_Mutation	SNP	C	C	A																															ctaagatgctggttaattacCtgctggatcaaaggaccatt																								novel		C3N-00199_TP	C3N-00199_NB	C	C																c.406C>A	p.Leu136Met	p.L136M	ENST00000366474	1/1	207	161	46	374	374	0	strelka-varscan-mutect	OR2T1,missense_variant,p.Leu136Met,ENST00000366474,NM_030904.1;	A	ENST00000366474	Transcript	missense_variant	406/1110	406/1110	136/369	L/M	Ctg/Atg		1		1	OR2T1	HGNC	HGNC:8277	protein_coding	YES	CCDS31115.1	ENSP00000355430	O43869	A0A126GVY3	UPI00003B2872	NM_030904.1	tolerated(0.06)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF125,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	41	248406400	248406400	C	A	1	0	0	0	0	1	0	0	0	11094	680	24	2		2	OR2T1	1	248406400	Missense_Mutation	SNP	C	C3N-00199_TP	1	248406400	550022	51	11714	266	2									
GREB1	0	.	GRCh38	chr2	11615280	11615280	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaacgaggatgaggagctGgggacagaaggtgagggatg	13	4	20	4	1	0	3	0	2	0	1	0	9	0	7	0	6	2	1	0	6	2	0	rs752937124		C3N-00199_TP	C3N-00199_NB	G	G																c.3312G>T	p.=	p.L1104L	ENST00000381486	20/33	123	97	26	158	158	0	strelka-varscan-mutect	GREB1,synonymous_variant,p.=,ENST00000381486,NM_014668.3;GREB1,synonymous_variant,p.=,ENST00000234142,;GREB1,synonymous_variant,p.=,ENST00000396123,;GREB1,downstream_gene_variant,,ENST00000432985,;GREB1,non_coding_transcript_exon_variant,,ENST00000472040,;	T	ENST00000381486	Transcript	synonymous_variant	3612/8484	3312/5850	1104/1949	L	ctG/ctT	rs752937124	1		1	GREB1	HGNC	HGNC:24885	protein_coding	YES	CCDS42655.1	ENSP00000370896	Q4ZG55		UPI0000163937	NM_014668.3			20/33		Pfam_domain:PF15782,hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13																	LOW	1	SNV	5			1										PASS		rs752937124	.												T	2	4	41	11615280	11615280	G	T	1	0	0	0	0	0	0	0	1	6639	1335	47	2		2	GREB1	2	11615280	Silent	SNP	G	C3N-00199_TP		11615280	230578249	52	11715											
OSR1	0	.	GRCh38	chr2	19353369	19353369	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtcgaggagggcacccagcCcacctgcaggggagcctggg	7	3	17	14	2	0	0	0	0	0	0	1	3	0	2	4	5	3	2	4	5	0	0	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.437G>T	p.Gly146Val	p.G146V	ENST00000272223	2/3	364	299	65	414	414	0	strelka-varscan-mutect	OSR1,missense_variant,p.Gly146Val,ENST00000272223,NM_145260.2;MIR4757,downstream_gene_variant,,ENST00000584244,;OSR1,downstream_gene_variant,,ENST00000498844,;OSR1,non_coding_transcript_exon_variant,,ENST00000487581,;	A	ENST00000272223	Transcript	missense_variant	782/1936	437/801	146/266	G/V	gGg/gTg		1		-1	OSR1	HGNC	HGNC:8111	protein_coding	YES	CCDS1694.1	ENSP00000272223	Q8TAX0		UPI000006EA6A	NM_145260.2	tolerated(0.37)		2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR14196,hmmpanther:PTHR14196:SF5																	MODERATE	1	SNV	1			1										PASS		rs1179360144	.												A	3	1	41	19353369	19353369	C	A	1	0	0	0	0	1	0	0	0	11360	623	22	2		2	OSR1	2	19353369	Missense_Mutation	SNP	C	C3N-00199_TP	7738089	19353369	222840160	53	11716											
C2orf70	0	.	GRCh38	chr2	26577614	26577615	+	Frame_Shift_Ins	INS	-	-	G																															gggagccggaacggtaccccINSctccccaccgtcctgtgagt																								novel		C3N-00199_TP	C3N-00199_NB	-	-																c.447_448insG	p.Leu150AlafsTer49	p.L150Afs*49	ENST00000329615	3/4	107	88	19	93	93	0	sindel-pindel	C2orf70,frameshift_variant,p.Pro137ArgfsTer18,ENST00000409392,NM_001322426.1;C2orf70,frameshift_variant,p.Leu150AlafsTer49,ENST00000329615,NM_001105519.1;C2orf70,frameshift_variant,p.Pro51ArgfsTer75,ENST00000453368,;CIB4,downstream_gene_variant,,ENST00000288861,NM_001029881.1;CIB4,downstream_gene_variant,,ENST00000405346,;CIB4,downstream_gene_variant,,ENST00000403670,;C2orf70,non_coding_transcript_exon_variant,,ENST00000479453,;	G	ENST00000329615	Transcript	frameshift_variant	478-479/731	447-448/606	149-150/201	-/X	-/G		1		1	C2orf70	HGNC	HGNC:27938	protein_coding	YES	CCDS42661.1	ENSP00000332875	A6NJV1		UPI00001AFA74	NM_001105519.1			3/4		hmmpanther:PTHR34924:SF1,hmmpanther:PTHR34924																	HIGH		insertion	5			1										PASS		.	.												G	7	5	41	26577614	26577614	-	G	1	0	1	1	0	0	0	0	0	2044	623	22	0		0	C2orf70	2	26577614	Frame_Shift_Ins	INS	-	C3N-00199_TP	7224245	26577614	215615915	54	11717											
SUPT7L	0	.	GRCh38	chr2	27661236	27661236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagactacatggctctgagGggatgtccagcatagtgggg	9	9	16	7	0	1	2	0	2	1	1	2	4	2	3	1	5	2	2	1	5	2	2	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.167C>T	p.Pro56Leu	p.P56L	ENST00000337768	3/6	94	74	20	125	125	0	strelka-varscan-mutect	SUPT7L,missense_variant,p.Pro56Leu,ENST00000337768,NM_014860.2,NM_001282729.1;SUPT7L,missense_variant,p.Pro54Leu,ENST00000406540,;SUPT7L,missense_variant,p.Pro54Leu,ENST00000464789,;SUPT7L,missense_variant,p.Pro54Leu,ENST00000405491,NM_001282731.1,NM_001282730.1;SUPT7L,intron_variant,,ENST00000404798,NM_001282732.1;SLC4A1AP,upstream_gene_variant,,ENST00000613058,NM_018158.2;SLC4A1AP,upstream_gene_variant,,ENST00000326019,;SLC4A1AP,upstream_gene_variant,,ENST00000618046,;SLC4A1AP,upstream_gene_variant,,ENST00000613517,;SLC4A1AP,upstream_gene_variant,,ENST00000427424,;	A	ENST00000337768	Transcript	missense_variant	737/4488	167/1245	56/414	P/L	cCc/cTc		1		-1	SUPT7L	HGNC	HGNC:30632	protein_coding	YES	CCDS42667.1	ENSP00000336750	O94864		UPI000013607D	NM_014860.2,NM_001282729.1	deleterious(0)		3/6		hmmpanther:PTHR28598,hmmpanther:PTHR28598:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	27661236	27661236	G	A	1	0	0	0	0	1	0	0	0	15787	1232	43	3		3	SUPT7L	2	27661236	Missense_Mutation	SNP	G	C3N-00199_TP	1083622	27661236	214532293	55	11718											
FOXN2	0	.	GRCh38	chr2	48346512	48346512	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatcctttggaccagctTgctaccagaacccagaaaaa	13	8	7	13	0	0	2	0	0	0	2	1	3	1	3	5	1	5	2	5	1	4	3	rs764474426		C3N-00199_TP	C3N-00199_NB	T	T																c.298T>A	p.Cys100Ser	p.C100S	ENST00000340553	3/7	57	48	9	161	161	0	strelka-varscan-mutect	FOXN2,missense_variant,p.Cys100Ser,ENST00000340553,NM_002158.3;FOXN2,missense_variant,p.Cys100Ser,ENST00000413569,;FOXN2,synonymous_variant,p.=,ENST00000616844,;	A	ENST00000340553	Transcript	missense_variant	559/5408	298/1296	100/431	C/S	Tgc/Agc	rs764474426	1		1	FOXN2	HGNC	HGNC:5281	protein_coding	YES	CCDS1838.1	ENSP00000343633	P32314		UPI0000226321	NM_002158.3	tolerated(0.43)		3/7		hmmpanther:PTHR13962:SF19,hmmpanther:PTHR13962																	MODERATE	1	SNV	1			1										PASS		rs764474426	.												A	3	1	41	48346512	48346512	T	A	1	0	0	0	0	1	0	0	0	5884	1812	63	4		4	FOXN2	2	48346512	Missense_Mutation	SNP	T	C3N-00199_TP	20685276	48346512	193847017	56	11719											
WDPCP	0	.	GRCh38	chr2	63174750	63174750	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggaggttatctggaaaTgagtcttctccttgaggtgc	8	12	15	6	0	3	2	0	2	3	0	4	5	3	5	1	5	1	1	1	5	2	3	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.1998A>G	p.=	p.S666S	ENST00000272321	15/18	90	67	23	271	271	0	strelka-varscan-mutect	WDPCP,synonymous_variant,p.=,ENST00000409120,;WDPCP,synonymous_variant,p.=,ENST00000272321,NM_015910.5;WDPCP,synonymous_variant,p.=,ENST00000409199,;WDPCP,synonymous_variant,p.=,ENST00000398544,NM_001042692.2;WDPCP,3_prime_UTR_variant,,ENST00000409354,;	C	ENST00000272321	Transcript	synonymous_variant	2526/3392	1998/2241	666/746	S	tcA/tcG		1		-1	WDPCP	HGNC	HGNC:28027	protein_coding	YES	CCDS42688.1	ENSP00000272321	O95876		UPI000013D946	NM_015910.5			15/18		hmmpanther:PTHR13667:SF5,hmmpanther:PTHR13667																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	41	63174750	63174750	T	C	1	0	0	0	0	0	0	0	1	17833	1451	51	5		5	WDPCP	2	63174750	Silent	SNP	T	C3N-00199_TP	14828238	63174750	179018779	57	11720											
REG1A	0	.	GRCh38	chr2	79121591	79121591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagacagagttgccccagGcccggatcagctgcccagaa	10	4	11	16	1	1	3	1	0	0	3	1	4	1	4	5	2	3	2	5	2	1	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.94G>C	p.Ala32Pro	p.A32P	ENST00000233735	3/6	313	245	68	366	366	0	strelka-varscan-mutect	REG1A,missense_variant,p.Ala32Pro,ENST00000233735,NM_002909.4;REG1A,non_coding_transcript_exon_variant,,ENST00000488524,;REG1A,non_coding_transcript_exon_variant,,ENST00000485184,;REG1A,non_coding_transcript_exon_variant,,ENST00000461579,;	C	ENST00000233735	Transcript	missense_variant	197/808	94/501	32/166	A/P	Gcc/Ccc		1		1	REG1A	HGNC	HGNC:9951	protein_coding	YES	CCDS1964.1	ENSP00000233735	P05451		UPI000012E72D	NM_002909.4	tolerated(0.77)		3/6		hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF55,Gene3D:3.10.100.10,Superfamily_domains:SSF56436,Prints_domain:PR01504																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	41	79121591	79121591	G	C	1	0	0	0	0	1	0	0	0	13380	1203	42	4		4	REG1A	2	79121591	Missense_Mutation	SNP	G	C3N-00199_TP	15946841	79121591	163071938	58	11721											
RGPD3	0	.	GRCh38	chr2	106468248	106468248	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggggcggagccctgcaccGaggcgacgtaccgctccccg	6	3	15	17	7	0	0	0	0	0	0	1	3	1	1	5	4	3	3	5	4	1	1	rs753903388		C3N-00199_TP	C3N-00199_NB	G	G																c.41C>A	p.Ser14Ter	p.S14*	ENST00000409886	1/23	477	422	55	363	363	0	strelka-varscan-mutect	RGPD3,stop_gained,p.Ser14Ter,ENST00000409886,NM_001144013.1;RGPD3,stop_gained,p.Ser14Ter,ENST00000304514,;AC108868.3,downstream_gene_variant,,ENST00000437031,;	T	ENST00000409886	Transcript	stop_gained	129/5594	41/5277	14/1758	S/*	tCg/tAg	rs753903388,COSM1004944,COSM1004945	1		-1	RGPD3	HGNC	HGNC:32416	protein_coding	YES	CCDS46379.1	ENSP00000386588	A6NKT7		UPI00006C049F	NM_001144013.1			1/23													0,1,1						HIGH	1	SNV	1		0,1,1	1										PASS		rs753903388	.												T	4	4	41	106468248	106468248	G	T	1	0	0	0	0	0	1	0	0	13459	1059	37	1		1	RGPD3	2	106468248	Nonsense_Mutation	SNP	G	C3N-00199_TP	27346657	106468248	135725281	59	11722											
CYP27C1	0	.	GRCh38	chr2	127203487	127203487	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagcaataacttggttgacTtctccagaataaatggccac	13	11	7	10	0	2	2	1	1	1	1	3	2	2	2	2	2	2	2	2	2	5	5	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.63A>C	p.Glu21Asp	p.E21D	ENST00000335247	2/8	107	78	29	317	317	0	strelka-varscan-mutect	CYP27C1,missense_variant,p.Glu21Asp,ENST00000335247,NM_001001665.3;CYP27C1,missense_variant,p.Glu21Asp,ENST00000409327,;	G	ENST00000335247	Transcript	missense_variant	194/4401	63/1119	21/372	E/D	gaA/gaC		1		-1	CYP27C1	HGNC	HGNC:33480	protein_coding	YES	CCDS33285.1	ENSP00000334128	Q4G0S4	A0A024RAI7	UPI00001995F8	NM_001001665.3	tolerated(0.52)		2/8		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF9,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	41	127203487	127203487	T	G	1	0	0	0	0	1	0	0	0	3963	1606	56	5		5	CYP27C1	2	127203487	Missense_Mutation	SNP	T	C3N-00199_TP	20735239	127203487	114990042	60	11723											
ERCC3	0	.	GRCh38	chr2	127293584	127293584	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtccttggctccatattCatccactttggtgcctgact	6	15	8	12	0	1	1	1	1	0	0	4	1	4	1	4	2	1	2	4	2	2	5	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.163G>T	p.Glu55Ter	p.E55*	ENST00000285398	2/15	304	251	53	342	341	1	strelka-varscan-mutect	ERCC3,stop_gained,p.Glu55Ter,ENST00000285398,NM_001303416.1,NM_000122.1,NM_001303418.1;ERCC3,upstream_gene_variant,,ENST00000456257,;ERCC3,3_prime_UTR_variant,,ENST00000445889,;ERCC3,3_prime_UTR_variant,,ENST00000426778,;ERCC3,non_coding_transcript_exon_variant,,ENST00000494464,;ERCC3,non_coding_transcript_exon_variant,,ENST00000462306,;ERCC3,non_coding_transcript_exon_variant,,ENST00000490062,;ERCC3,upstream_gene_variant,,ENST00000460485,;	A	ENST00000285398	Transcript	stop_gained	258/2750	163/2349	55/782	E/*	Gaa/Taa		1		-1	ERCC3	HGNC	HGNC:3435	protein_coding	YES	CCDS2144.1	ENSP00000285398	P19447		UPI000013900E	NM_001303416.1,NM_000122.1,NM_001303418.1			2/15		hmmpanther:PTHR11274,hmmpanther:PTHR11274:SF0																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	41	127293584	127293584	C	A	1	0	0	0	0	0	1	0	0	5063	835	29	2		2	ERCC3	2	127293584	Nonsense_Mutation	SNP	C	C3N-00199_TP	90097	127293584	114899945	61	11724											
AMER3	0	.	GRCh38	chr2	130764494	130764494	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtggagttcccagggcCaccatccagaaagcctgggc	8	5	13	15	1	0	1	0	0	0	1	2	2	2	2	6	4	1	1	6	4	1	1	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.2422C>A	p.His808Asn	p.H808N	ENST00000423981	2/2	267	220	47	265	265	0	strelka-varscan-mutect	AMER3,missense_variant,p.His808Asn,ENST00000423981,NM_001105193.1,NM_001105195.1,NM_001105194.1;AMER3,missense_variant,p.His808Asn,ENST00000321420,NM_152698.2;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	A	ENST00000423981	Transcript	missense_variant	2532/6172	2422/2586	808/861	H/N	Cac/Aac		1		1	AMER3	HGNC	HGNC:26771	protein_coding	YES	CCDS2164.1	ENSP00000392700	Q8N944		UPI0000D61239	NM_001105193.1,NM_001105195.1,NM_001105194.1	tolerated_low_confidence(0.23)		2/2		hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2																	MODERATE	1	SNV	4			1										PASS		.	.												A	3	1	41	130764494	130764494	C	A	1	0	0	0	0	1	0	0	0	669	594	21	2		2	AMER3	2	130764494	Missense_Mutation	SNP	C	C3N-00199_TP	3470910	130764494	111429035	62	11725											
LRP1B	0	.	GRCh38	chr2	140495684	140495684	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacagggaaagcctgaagagCattcatcaatgtctacacat	15	9	8	9	0	3	2	2	1	1	1	3	3	3	3	1	1	4	1	1	1	5	3	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.8915G>T	p.Cys2972Phe	p.C2972F	ENST00000389484	56/91	75	62	13	188	188	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Cys2972Phe,ENST00000389484,NM_018557.2;	A	ENST00000389484	Transcript	missense_variant	9887/16535	8915/13800	2972/4599	C/F	tGc/tTc		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0.01)		56/91		PROSITE_profiles:PS50026,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	140495684	140495684	C	A	1	0	0	0	0	1	0	0	0	8850	710	25	2		2	LRP1B	2	140495684	Missense_Mutation	SNP	C	C3N-00199_TP	9731190	140495684	101697845	63	11726											
LRP1B	0	.	GRCh38	chr2	140841075	140841075	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaatccactgctagccCtctgatactctgaatatcta	11	11	4	15	0	3	2	0	2	3	0	4	2	4	2	3	0	3	1	3	0	6	4	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.4957G>C	p.Gly1653Arg	p.G1653R	ENST00000389484	30/91	42	31	11	101	101	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Gly1653Arg,ENST00000389484,NM_018557.2;	G	ENST00000389484	Transcript	missense_variant	5929/16535	4957/13800	1653/4599	G/R	Ggg/Cgg		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0)		30/91		PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Pfam_domain:PF00058,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	41	140841075	140841075	C	G	1	0	0	0	0	1	0	0	0	8850	681	24	4		4	LRP1B	2	140841075	Missense_Mutation	SNP	C	C3N-00199_TP	345391	140841075	101352454	64	11727											
LRP1B	0	.	GRCh38	chr2	141049178	141049178	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccattcctctaacaattcCtgggcgtcctttcccataaa	9	13	5	14	1	1	0	0	0	1	0	6	0	6	0	5	1	1	0	5	1	4	5			C3N-00199_TP	C3N-00199_NB	C	C																c.1597G>T	p.Gly533Ter	p.G533*	ENST00000389484	11/91	85	73	12	224	224	0	varscan-mutect	LRP1B,stop_gained,p.Gly533Ter,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	A	ENST00000389484	Transcript	stop_gained	2569/16535	1597/13800	533/4599	G/*	Gga/Tga	COSM5369486	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2			11/91		Gene3D:2.120.10.30,Superfamily_domains:SSF63825											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	41	141049178	141049178	C	A	1	0	0	0	0	0	1	0	0	8850	690	24	2		2	LRP1B	2	141049178	Nonsense_Mutation	SNP	C	C3N-00199_TP	208103	141049178	101144351	65	11728											
KIF5C	0	.	GRCh38	chr2	148981488	148981488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggctgtcaattatgAccagaaatcacaggaagtgg	13	8	13	7	0	2	2	2	1	0	1	2	4	2	4	1	4	1	2	1	4	4	1	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.1496A>G	p.Asp499Gly	p.D499G	ENST00000435030	14/26	133	125	8	185	185	0	strelka-varscan-mutect	KIF5C,missense_variant,p.Asp499Gly,ENST00000435030,NM_004522.2;KIF5C,non_coding_transcript_exon_variant,,ENST00000464066,;KIF5C,non_coding_transcript_exon_variant,,ENST00000460377,;	G	ENST00000435030	Transcript	missense_variant	1864/6931	1496/2874	499/957	D/G	gAc/gGc		1		1	KIF5C	HGNC	HGNC:6325	protein_coding	YES	CCDS74586.1	ENSP00000393379	O60282		UPI000012DDB7	NM_004522.2	deleterious(0.01)		14/26		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF380																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	41	148981488	148981488	A	G	1	0	0	0	0	1	0	0	0	8172	275	10	5		5	KIF5C	2	148981488	Missense_Mutation	SNP	A	C3N-00199_TP	7932310	148981488	93212041	66	11729											
GALNT3	0	.	GRCh38	chr2	165757148	165757148	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacttggtttctagcaatcaCctgagtgccttttggaaagc	10	13	9	9	0	2	1	1	1	1	0	2	2	2	2	2	2	4	2	2	2	4	5	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1291G>T	p.Val431Leu	p.V431L	ENST00000392701	7/11	174	141	33	490	490	0	strelka-varscan-mutect	GALNT3,missense_variant,p.Val431Leu,ENST00000392701,NM_004482.3;GALNT3,missense_variant,p.Val169Leu,ENST00000409882,;GALNT3,missense_variant,p.Val431Leu,ENST00000412248,;GALNT3,3_prime_UTR_variant,,ENST00000437849,;GALNT3,downstream_gene_variant,,ENST00000463254,;	A	ENST00000392701	Transcript	missense_variant	2067/3868	1291/1902	431/633	V/L	Gtg/Ttg		1		-1	GALNT3	HGNC	HGNC:4125	protein_coding	YES	CCDS2226.1	ENSP00000376465	Q14435		UPI000013C989	NM_004482.3	deleterious(0)		7/11		hmmpanther:PTHR11675:SF33,hmmpanther:PTHR11675,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	165757148	165757148	C	A	1	0	0	0	0	1	0	0	0	6085	507	18	2		2	GALNT3	2	165757148	Missense_Mutation	SNP	C	C3N-00199_TP	16775660	165757148	76436381	67	11730											
XIRP2	0	.	GRCh38	chr2	167243694	167243694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgttgaaaagggagatgtaAgaacagcacggtggatgttt	14	9	14	4	2	0	3	0	1	0	2	0	5	0	4	0	3	2	4	0	3	4	3			C3N-00199_TP	C3N-00199_NB	A	A																c.2302A>G	p.Arg768Gly	p.R768G	ENST00000409195	9/11	64	46	18	158	157	1	strelka-varscan-mutect	XIRP2,missense_variant,p.Arg768Gly,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Arg546Gly,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Arg593Gly,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	G	ENST00000409195	Transcript	missense_variant	2391/12675	2302/10650	768/3549	R/G	Aga/Gga	COSM1564707	1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious(0)		9/11		Pfam_domain:PF08043,PROSITE_profiles:PS51389,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1											1						MODERATE	1	SNV	5		1	1										PASS		.	.												G	3	3	41	167243694	167243694	A	G	1	0	0	0	0	1	0	0	0	17989	64	3	5		5	XIRP2	2	167243694	Missense_Mutation	SNP	A	C3N-00199_TP	1486546	167243694	74949835	68	11731											
G6PC2	0	.	GRCh38	chr2	168907929	168907929	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattgacaatactgcagctCtaccatttcctccagatccc	10	12	4	15	0	2	2	1	1	1	1	5	2	5	2	4	0	4	2	4	0	3	4	rs139331128		C3N-00199_TP	C3N-00199_NB	C	C																c.918C>T	p.=	p.L306L	ENST00000375363	5/5	273	222	51	539	539	0	strelka-varscan-mutect	G6PC2,synonymous_variant,p.=,ENST00000375363,NM_021176.2;SPC25,intron_variant,,ENST00000451987,;G6PC2,downstream_gene_variant,,ENST00000429379,NM_001081686.1;G6PC2,downstream_gene_variant,,ENST00000421979,;G6PC2,non_coding_transcript_exon_variant,,ENST00000461586,;SPC25,intron_variant,,ENST00000472216,;G6PC2,3_prime_UTR_variant,,ENST00000282075,;	T	ENST00000375363	Transcript	synonymous_variant	1010/1214	918/1068	306/355	L	ctC/ctT	rs139331128	1		1	G6PC2	HGNC	HGNC:28906	protein_coding	YES	CCDS2230.1	ENSP00000364512	Q9NQR9		UPI0000048D51	NM_021176.2			5/5		PIRSF_domain:PIRSF000905,hmmpanther:PTHR12591,hmmpanther:PTHR12591:SF1,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs139331128	.												T	2	4	41	168907929	168907929	C	T	1	0	0	0	0	0	0	0	1	6015	900	32	3		3	G6PC2	2	168907929	Silent	SNP	C	C3N-00199_TP	1664235	168907929	73285600	69	11732											
SP9	0	.	GRCh38	chr2	174337467	174337467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcagcggcggcggCggcagcggcggcggcggcgg	2	0	26	13	11	0	0	0	0	0	0	0	0	0	0	0	12	2	2	0	12	0	0	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1382C>T	p.Ala461Val	p.A461V	ENST00000394967	2/2	118	96	22	74	74	0	strelka-varscan-mutect	SP9,missense_variant,p.Ala461Val,ENST00000394967,NM_001145250.1;RP11-572N21.1,non_coding_transcript_exon_variant,,ENST00000624790,;	T	ENST00000394967	Transcript	missense_variant	1529/2554	1382/1455	461/484	A/V	gCg/gTg		1		1	SP9	HGNC	HGNC:30690	protein_coding	YES	CCDS46453.1	ENSP00000378418	P0CG40		UPI0000EE2E67	NM_001145250.1	tolerated_low_confidence(0.2)		2/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	41	174337467	174337467	C	T	1	0	0	0	0	1	0	0	0	15297	768	27	1		1	SP9	2	174337467	Missense_Mutation	SNP	C	C3N-00199_TP	5429538	174337467	67856062	70	11733											
WIPF1	0	.	GRCh38	chr2	174571622	174571622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgactgacaggattattgGtacatttgggcaggctgggt	8	13	14	6	0	0	2	0	2	0	0	0	3	0	3	0	5	1	3	0	5	2	5	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1183C>A	p.Pro395Thr	p.P395T	ENST00000409415	5/5	265	198	67	333	333	0	strelka-varscan-mutect	WIPF1,missense_variant,p.Pro395Thr,ENST00000409415,;WIPF1,intron_variant,,ENST00000392547,NM_003387.4;WIPF1,intron_variant,,ENST00000272746,;WIPF1,intron_variant,,ENST00000409891,;WIPF1,intron_variant,,ENST00000392546,;WIPF1,intron_variant,,ENST00000359761,NM_001077269.1;WIPF1,downstream_gene_variant,,ENST00000410117,;WIPF1,downstream_gene_variant,,ENST00000455428,;WIPF1,downstream_gene_variant,,ENST00000436221,;AC018890.6,intron_variant,,ENST00000442996,;AC018890.6,intron_variant,,ENST00000412835,;AC010894.5,upstream_gene_variant,,ENST00000454203,;WIPF1,upstream_gene_variant,,ENST00000467149,;	T	ENST00000409415	Transcript	missense_variant	1319/1772	1183/1212	395/403	P/T	Cca/Aca		1		-1	WIPF1	HGNC	HGNC:12736	protein_coding			ENSP00000387150		E9PB87	UPI0001881868		deleterious_low_confidence(0)		5/5																			MODERATE		SNV	1			1										PASS		.	.												T	3	4	41	174571622	174571622	G	T	1	0	0	0	0	1	0	0	0	17923	1261	44	2		2	WIPF1	2	174571622	Missense_Mutation	SNP	G	C3N-00199_TP	234155	174571622	67621907	71	11734											
PDE11A	0	.	GRCh38	chr2	177629456	177629456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactggcaggggaggatgagGcagttgaggccagcagtcgt	9	6	18	8	1	0	2	0	2	0	0	1	4	0	4	1	6	1	4	1	6	0	1			C3N-00199_TP	C3N-00199_NB	G	G																c.2753C>A	p.Ala918Asp	p.A918D	ENST00000286063	20/20	311	250	61	537	536	1	strelka-varscan-mutect	PDE11A,missense_variant,p.Ala918Asp,ENST00000286063,NM_016953.3;PDE11A,missense_variant,p.Ala668Asp,ENST00000358450,NM_001077197.1;PDE11A,missense_variant,p.Ala560Asp,ENST00000409504,NM_001077358.1;PDE11A,missense_variant,p.Ala474Asp,ENST00000389683,NM_001077196.1;PDE11A,missense_variant,p.Ala121Asp,ENST00000436700,;PDE11A,non_coding_transcript_exon_variant,,ENST00000488399,;PDE11A,non_coding_transcript_exon_variant,,ENST00000478646,;	T	ENST00000286063	Transcript	missense_variant	3071/9275	2753/2802	918/933	A/D	gCc/gAc	COSM4947124,COSM75887	1		-1	PDE11A	HGNC	HGNC:8773	protein_coding	YES	CCDS33334.1	ENSP00000286063	Q9HCR9		UPI00001402C1	NM_016953.3	tolerated_low_confidence(0.41)		20/20		Low_complexity_(Seg):seg,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF130											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	41	177629456	177629456	G	T	1	0	0	0	0	1	0	0	0	11719	1203	42	2		2	PDE11A	2	177629456	Missense_Mutation	SNP	G	C3N-00199_TP	3057834	177629456	64564073	72	11735											
TTN	0	.	GRCh38	chr2	178564281	178564281	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcatgaacaacgatgAcatctttatattttggatcc	11	14	6	10	1	1	2	0	2	1	0	3	4	3	3	2	1	3	1	2	1	4	5	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.81851T>A	p.Val27284Asp	p.V27284D	ENST00000589042	326/363	176	166	10	520	520	0	strelka-varscan-mutect	TTN,missense_variant,p.Val27284Asp,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Val25643Asp,ENST00000591111,;TTN,missense_variant,p.Val25643Asp,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Val24716Asp,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Val18219Asp,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Val18411Asp,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Val18344Asp,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;	T	ENST00000589042	Transcript	missense_variant	82076/109224	81851/107976	27284/35991	V/D	gTc/gAc		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			326/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	41	178564281	178564281	A	T	1	0	0	0	0	1	0	0	0	17245	275	10	4		4	TTN	2	178564281	Missense_Mutation	SNP	A	C3N-00199_TP	934825	178564281	63629248	73	11736											
DNAH7	0	.	GRCh38	chr2	195926432	195926432	+	Frame_Shift_Del	DEL	C	C	-																															taataaaaccttacctttatCcccattggaatagctgtttg																								rs767015854		C3N-00199_TP	C3N-00199_NB	C	C																c.3606delG	p.Ile1203Ter	p.I1203*	ENST00000312428	22/65	25	22	3	91	91	0	varindel-pindel	DNAH7,frameshift_variant,p.Ile1203Ter,ENST00000312428,NM_018897.2;	-	ENST00000312428	Transcript	frameshift_variant	3707/12394	3606/12075	1202/4024	G/X	ggG/gg	rs767015854,COSM4544618	1		-1	DNAH7	HGNC	HGNC:18661	protein_coding	YES	CCDS42794.1	ENSP00000311273	Q8WXX0		UPI0000141B95	NM_018897.2			22/65		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676											0,1						HIGH	1	deletion	1		0,1	1										PASS		.	.												-	7	5	41	195926432	195926432	C	-	1	0	1	0	1	0	0	0	0	4421	842	30	0		0	DNAH7	2	195926432	Frame_Shift_Del	DEL	C	C3N-00199_TP	17362151	195926432	46267097	74	11737											
PLCD4	0	.	GRCh38	chr2	218618693	218618693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgtcttccatggccgccGctccaacctggacctgatgg	6	10	10	15	2	1	1	0	1	1	0	3	2	3	2	6	3	1	1	6	3	1	2			C3N-00199_TP	C3N-00199_NB	G	G																c.296G>A	p.Arg99His	p.R99H	ENST00000450993	4/16	440	338	102	401	400	1	strelka-varscan-mutect	PLCD4,missense_variant,p.Arg99His,ENST00000450993,NM_032726.3;PLCD4,missense_variant,p.Arg99His,ENST00000432688,;PLCD4,missense_variant,p.Arg99His,ENST00000417849,;PLCD4,incomplete_terminal_codon_variant,p.=,ENST00000415854,;PLCD4,missense_variant,p.Ala65Thr,ENST00000444453,;PLCD4,missense_variant,p.Ala65Thr,ENST00000446503,;PLCD4,non_coding_transcript_exon_variant,,ENST00000473443,;PLCD4,non_coding_transcript_exon_variant,,ENST00000483685,;PLCD4,non_coding_transcript_exon_variant,,ENST00000469493,;PLCD4,non_coding_transcript_exon_variant,,ENST00000465713,;PLCD4,upstream_gene_variant,,ENST00000459791,;	A	ENST00000450993	Transcript	missense_variant	635/3232	296/2289	99/762	R/H	cGc/cAc	COSM3838598	1		1	PLCD4	HGNC	HGNC:9062	protein_coding	YES	CCDS46516.1	ENSP00000388631	Q9BRC7		UPI0000044279	NM_032726.3	deleterious(0)		4/16		PROSITE_profiles:PS50003,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF31,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729											1						MODERATE	1	SNV	1		1	1										PASS		rs998141297	.												A	3	1	41	218618693	218618693	G	A	1	0	0	0	0	1	0	0	0	12127	1087	38	1		1	PLCD4	2	218618693	Missense_Mutation	SNP	G	C3N-00199_TP	22692261	218618693	23574836	75	11738											
IHH	0	.	GRCh38	chr2	219060355	219060355	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtttgcgtggcggtcgcCggcggctgcccaccacccga	4	6	15	16	7	0	0	0	0	0	0	1	2	0	0	4	4	2	2	4	4	0	1			C3N-00199_TP	C3N-00199_NB	C	C																c.113G>C	p.Arg38Pro	p.R38P	ENST00000295731	1/3	218	175	43	170	170	0	strelka-varscan-mutect	IHH,missense_variant,p.Arg38Pro,ENST00000295731,NM_002181.3;MIR3131,upstream_gene_variant,,ENST00000583592,;	G	ENST00000295731	Transcript	missense_variant	113/2023	113/1236	38/411	R/P	cGg/cCg	COSM1191629	1		-1	IHH	HGNC	HGNC:5956	protein_coding	YES	CCDS33380.1	ENSP00000295731	Q14623		UPI0000035883	NM_002181.3	tolerated(0.1)		1/3		Pfam_domain:PF01085,PIRSF_domain:PIRSF009400,hmmpanther:PTHR11889,hmmpanther:PTHR11889:SF39,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	41	219060355	219060355	C	G	1	0	0	0	0	1	0	0	0	7515	652	23	4		4	IHH	2	219060355	Missense_Mutation	SNP	C	C3N-00199_TP	441662	219060355	23133174	76	11739											
CHRND	0	.	GRCh38	chr2	232529944	232529944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgccgccctcagagaacGgggagtgggagatagtccac	10	6	15	10	2	1	2	1	0	0	2	2	5	2	3	3	3	2	0	3	3	2	1	rs766740341		C3N-00199_TP	C3N-00199_NB	G	G																c.625G>A	p.Gly209Arg	p.G209R	ENST00000258385	7/12	141	118	23	136	136	0	strelka-varscan-mutect	CHRND,missense_variant,p.Gly194Arg,ENST00000543200,NM_001256657.1;CHRND,missense_variant,p.Gly209Arg,ENST00000258385,NM_000751.2;PRSS56,downstream_gene_variant,,ENST00000617714,NM_001195129.1;PRSS56,downstream_gene_variant,,ENST00000449534,;CHRND,downstream_gene_variant,,ENST00000449596,;CHRND,missense_variant,p.Arg172Gln,ENST00000441621,;CHRND,3_prime_UTR_variant,,ENST00000446616,;CHRND,intron_variant,,ENST00000412233,;	A	ENST00000258385	Transcript	missense_variant	657/2112	625/1554	209/517	G/R	Ggg/Agg	rs766740341	1		1	CHRND	HGNC	HGNC:1965	protein_coding	YES	CCDS2494.1	ENSP00000258385	Q07001		UPI000012525E	NM_000751.2	deleterious(0)		7/12		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF61,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		rs766740341	.												A	3	1	41	232529944	232529944	G	A	1	0	0	0	0	1	0	0	0	3154	1130	39	1		1	CHRND	2	232529944	Missense_Mutation	SNP	G	C3N-00199_TP	13469589	232529944	9663585	77	11740											
SAG	0	.	GRCh38	chr2	233335053	233335053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaggagaggcattgccctgGatgggaaaatcaagcacgag	15	5	14	7	1	1	1	1	0	0	1	1	5	1	3	1	4	2	2	1	4	4	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.898G>A	p.Asp300Asn	p.D300N	ENST00000409110	11/16	102	79	23	133	133	0	strelka-varscan-mutect	SAG,missense_variant,p.Asp300Asn,ENST00000409110,NM_000541.4;SAG,non_coding_transcript_exon_variant,,ENST00000476500,;SAG,non_coding_transcript_exon_variant,,ENST00000469222,;SAG,non_coding_transcript_exon_variant,,ENST00000471884,;SAG,non_coding_transcript_exon_variant,,ENST00000412969,;SAG,non_coding_transcript_exon_variant,,ENST00000483231,;SAG,non_coding_transcript_exon_variant,,ENST00000473771,;SAG,upstream_gene_variant,,ENST00000474220,;	A	ENST00000409110	Transcript	missense_variant	1128/1591	898/1218	300/405	D/N	Gat/Aat		1		1	SAG	HGNC	HGNC:10521	protein_coding	YES	CCDS46545.1	ENSP00000386444	P10523		UPI000013CD8D	NM_000541.4	deleterious(0.02)		11/16		hmmpanther:PTHR11792:SF15,hmmpanther:PTHR11792,Gene3D:1g4mB02,Pfam_domain:PF02752,SMART_domains:SM01017,Superfamily_domains:SSF81296,Prints_domain:PR00309																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	41	233335053	233335053	G	A	1	0	0	0	0	1	0	0	0	14067	1174	41	3		3	SAG	2	233335053	Missense_Mutation	SNP	G	C3N-00199_TP	805109	233335053	8858476	78	11741											
MLPH	0	.	GRCh38	chr2	237518627	237518627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagaggcccaggcccaGgcccagccctttggcagcaa	8	4	13	16	0	1	1	1	0	0	1	1	1	1	1	4	5	2	3	4	5	1	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.534G>T	p.Gln178His	p.Q178H	ENST00000264605	5/16	383	295	88	382	382	0	strelka-varscan-mutect	MLPH,missense_variant,p.Gln178His,ENST00000264605,NM_024101.6;MLPH,missense_variant,p.Gln178His,ENST00000338530,NM_001042467.2;MLPH,missense_variant,p.Gln178His,ENST00000410032,NM_001281474.1;MLPH,missense_variant,p.Gln178His,ENST00000409373,NM_001281473.1;MLPH,upstream_gene_variant,,ENST00000437893,;MLPH,non_coding_transcript_exon_variant,,ENST00000468178,;MLPH,upstream_gene_variant,,ENST00000485956,;MLPH,downstream_gene_variant,,ENST00000477501,;MLPH,non_coding_transcript_exon_variant,,ENST00000495439,;MLPH,non_coding_transcript_exon_variant,,ENST00000464123,;MLPH,non_coding_transcript_exon_variant,,ENST00000478712,;MLPH,non_coding_transcript_exon_variant,,ENST00000494110,;	T	ENST00000264605	Transcript	missense_variant	828/3823	534/1803	178/600	Q/H	caG/caT		1		1	MLPH	HGNC	HGNC:29643	protein_coding	YES	CCDS2518.1	ENSP00000264605	Q9BV36	A0A024R492	UPI00000730BF	NM_024101.6	deleterious(0.02)		5/16		hmmpanther:PTHR14555																	MODERATE	1	SNV	1			1										PASS		rs1265900279	.												T	3	4	41	237518627	237518627	G	T	1	0	0	0	0	1	0	0	0	9596	991	35	2		2	MLPH	2	237518627	Missense_Mutation	SNP	G	C3N-00199_TP	4183574	237518627	4674902	79	11742											
GRM7	0	.	GRCh38	chr3	7461582	7461582	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattttttctgtcttccttaGgtagtgctggcactccagtg	5	17	9	10	0	2	0	0	0	2	0	4	0	4	0	2	2	1	3	2	2	2	6	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1376-1G>T		p.X459_splice	ENST00000357716		98	67	31	184	184	0	varscan-mutect	GRM7,splice_acceptor_variant,,ENST00000486284,NM_181874.2;GRM7,splice_acceptor_variant,,ENST00000357716,NM_000844.3;GRM7,splice_acceptor_variant,,ENST00000389336,;GRM7,splice_acceptor_variant,,ENST00000402647,;GRM7,splice_acceptor_variant,,ENST00000445087,;GRM7,splice_acceptor_variant,,ENST00000458641,;GRM7,splice_acceptor_variant,,ENST00000463676,;GRM7,splice_acceptor_variant,,ENST00000467425,;GRM7,splice_acceptor_variant,,ENST00000440923,;GRM7,splice_acceptor_variant,,ENST00000389335,;	T	ENST00000357716	Transcript	splice_acceptor_variant	-/4127	1376/2748	459/915				1		1	GRM7	HGNC	HGNC:4599	protein_coding	YES	CCDS43042.1	ENSP00000350348	Q14831		UPI000004A7E3	NM_000844.3				6/9																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	41	7461582	7461582	G	T	1	0	0	0	0	0	0	1	0	6684	1014	35	2		2	GRM7	3	7461582	Splice_Site	SNP	G	C3N-00199_TP		7461582	190833977	80	11743											
ARPP21	0	.	GRCh38	chr3	35707014	35707014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatttaaaagatgaaaaaGgtgaagaatcccagaagcgg	20	6	10	5	1	0	5	0	2	0	3	1	5	1	5	1	2	2	0	1	2	8	2	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.727G>T	p.Gly243Cys	p.G243C	ENST00000417925	9/19	33	26	7	156	156	0	strelka-mutect	ARPP21,missense_variant,p.Gly243Cys,ENST00000187397,NM_016300.4;ARPP21,missense_variant,p.Gly243Cys,ENST00000444190,NM_001267617.1;ARPP21,missense_variant,p.Gly243Cys,ENST00000417925,NM_001267619.1;ARPP21,intron_variant,,ENST00000425289,;ARPP21,intron_variant,,ENST00000476327,;ARPP21,missense_variant,p.Gly106Cys,ENST00000446068,;ARPP21,non_coding_transcript_exon_variant,,ENST00000494494,;ARPP21,intron_variant,,ENST00000427590,;	T	ENST00000417925	Transcript	missense_variant	941/3086	727/2442	243/813	G/C	Ggt/Tgt		1		1	ARPP21	HGNC	HGNC:16968	protein_coding	YES	CCDS58823.1	ENSP00000412326	Q9UBL0		UPI0000209B3D	NM_001267619.1	tolerated(0.11)		9/19		PROSITE_profiles:PS51673,hmmpanther:PTHR15672,hmmpanther:PTHR15672:SF14,Superfamily_domains:SSF82708																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	41	35707014	35707014	G	T	1	0	0	0	0	1	0	0	0	1121	1000	35	2		2	ARPP21	3	35707014	Missense_Mutation	SNP	G	C3N-00199_TP	28245432	35707014	162588545	81	11744											
SPATA12	0	.	GRCh38	chr3	57074251	57074251	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtatactccaacacacacaTacacacacatctgtaatcaa	18	8	2	13	0	2	0	1	0	1	0	3	0	3	0	1	0	3	2	1	0	6	4			C3N-00199_TP	C3N-00199_NB	T	T																c.557T>C	p.Ile186Thr	p.I186T	ENST00000334325	2/2	74	70	4	136	136	0	varscan-mutect	SPATA12,missense_variant,p.Ile186Thr,ENST00000334325,NM_181727.1;ARHGEF3,intron_variant,,ENST00000338458,NM_001128615.1;ARHGEF3,intron_variant,,ENST00000468727,;ARHGEF3,intron_variant,,ENST00000468466,;RP11-157F20.3,upstream_gene_variant,,ENST00000607541,;ARHGEF3,intron_variant,,ENST00000477440,;ARHGEF3,intron_variant,,ENST00000477833,;	C	ENST00000334325	Transcript	missense_variant	1232/2413	557/573	186/190	I/T	aTa/aCa	COSM5323852	1		1	SPATA12	HGNC	HGNC:23221	protein_coding	YES	CCDS2879.1	ENSP00000335392	Q7Z6I5	A0A140VJV7	UPI00001A9456	NM_181727.1	tolerated_low_confidence(0.33)		2/2													1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	41	57074251	57074251	T	C	1	0	0	0	0	1	0	0	0	15329	1406	49	5		5	SPATA12	3	57074251	Missense_Mutation	SNP	T	C3N-00199_TP	21367237	57074251	141221308	82	11745											
ZNF717	0	.	GRCh38	chr3	75737967	75737967	+	Silent	SNP	T	T	A																															cctgtgtgagttctgtgatgTactgtaaggtatgacttgtg																								novel		C3N-00199_TP	C3N-00199_NB	T	T																c.1506A>T	p.=	p.V502V	ENST00000478296	4/4	130	114	16	513	513	0	strelka-varscan-mutect	ZNF717,synonymous_variant,p.=,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001290210.1;ZNF717,downstream_gene_variant,,ENST00000468296,;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,;	A	ENST00000478296	Transcript	synonymous_variant	1783/3875	1506/2595	502/864	V	gtA/gtT		1		-1	ZNF717	HGNC	HGNC:29448	protein_coding	YES	CCDS77773.1	ENSP00000419377		C9JVC3	UPI0001B794C0	NM_001290209.1			4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF241,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	41	75737967	75737967	T	A	1	0	0	0	0	0	0	0	1	18695	1625	57	4		4	ZNF717	3	75737967	Silent	SNP	T	C3N-00199_TP	18663716	75737967	122557592	83	11746	267	2									
ZNF717	0	.	GRCh38	chr3	75737969	75737969	+	Missense_Mutation	SNP	C	C	A																															tgtgtgagttctgtgatgtaCtgtaaggtatgacttgtggc																								novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1504G>T	p.Val502Leu	p.V502L	ENST00000478296	4/4	132	116	16	513	511	2	strelka-varscan-mutect	ZNF717,missense_variant,p.Val502Leu,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001290210.1;ZNF717,downstream_gene_variant,,ENST00000468296,;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,upstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,;	A	ENST00000478296	Transcript	missense_variant	1781/3875	1504/2595	502/864	V/L	Gta/Tta		1		-1	ZNF717	HGNC	HGNC:29448	protein_coding	YES	CCDS77773.1	ENSP00000419377		C9JVC3	UPI0001B794C0	NM_001290209.1	tolerated(0.64)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF241,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		rs1198624229	.												A	3	1	41	75737969	75737969	C	A	1	0	0	0	0	1	0	0	0	18695	565	20	2		2	ZNF717	3	75737969	Missense_Mutation	SNP	C	C3N-00199_TP	2	75737969	122557590	84	11747	267	2									
EPHA6	0	.	GRCh38	chr3	96987483	96987483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggaaatgaaattcacaCtaagggattgtaacagcatc	16	10	9	6	0	1	1	1	1	0	0	2	3	1	3	0	2	2	2	0	2	4	4	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.604C>A	p.Leu202Ile	p.L202I	ENST00000389672	3/18	77	61	16	216	216	0	strelka-varscan-mutect	EPHA6,missense_variant,p.Leu202Ile,ENST00000389672,NM_001080448.2;EPHA6,missense_variant,p.Leu202Ile,ENST00000470610,;EPHA6,missense_variant,p.Leu147Ile,ENST00000506569,NM_001278301.1;	A	ENST00000389672	Transcript	missense_variant	642/3971	604/3393	202/1130	L/I	Cta/Ata		1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2	deleterious(0)		3/18		Gene3D:2.60.120.260,Pfam_domain:PF01404,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,SMART_domains:SM00615,Superfamily_domains:SSF49785																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	41	96987483	96987483	C	A	1	0	0	0	0	1	0	0	0	5018	564	20	2		2	EPHA6	3	96987483	Missense_Mutation	SNP	C	C3N-00199_TP	21249514	96987483	101308076	85	11748											
SIDT1	0	.	GRCh38	chr3	113607093	113607093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttactacaacttcctctgtgCtcaccccttgggcgtcctga	6	13	7	15	1	2	1	1	1	1	0	4	1	4	1	4	1	4	1	4	1	3	4	rs774292168		C3N-00199_TP	C3N-00199_NB	C	C																c.1457C>T	p.Ala486Val	p.A486V	ENST00000393830	15/26	122	97	25	194	194	0	strelka-varscan-mutect	SIDT1,missense_variant,p.Ala486Val,ENST00000264852,NM_001322294.1,NM_001322299.1,NM_017699.2;SIDT1,missense_variant,p.Ala486Val,ENST00000393830,NM_001308350.1;SIDT1,intron_variant,,ENST00000463226,;SIDT1,non_coding_transcript_exon_variant,,ENST00000492863,;SIDT1,downstream_gene_variant,,ENST00000480746,;SIDT1,downstream_gene_variant,,ENST00000465803,;SIDT1,downstream_gene_variant,,ENST00000468728,;	T	ENST00000393830	Transcript	missense_variant	1496/2572	1457/2499	486/832	A/V	gCt/gTt	rs774292168	1		1	SIDT1	HGNC	HGNC:25967	protein_coding	YES	CCDS77790.1	ENSP00000377416	Q9NXL6		UPI0000DA58D9	NM_001308350.1	deleterious(0.01)		15/26		Pfam_domain:PF13965,hmmpanther:PTHR12185,hmmpanther:PTHR12185:SF15																	MODERATE	1	SNV	1			1										PASS		rs774292168	.												T	3	4	41	113607093	113607093	C	T	1	0	0	0	0	1	0	0	0	14566	797	28	3		3	SIDT1	3	113607093	Missense_Mutation	SNP	C	C3N-00199_TP	16619610	113607093	84688466	86	11749											
C3orf30	0	.	GRCh38	chr3	119147083	119147083	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagattgtatggcctcgtTgaccacaaaacatctgtaaa	13	11	7	10	1	2	2	1	1	1	1	3	2	2	2	2	1	1	3	2	1	5	4	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.894T>A	p.=	p.V298V	ENST00000295622	1/3	120	97	23	254	254	0	strelka-varscan-mutect	C3orf30,synonymous_variant,p.=,ENST00000295622,NM_152539.2;C3orf30,synonymous_variant,p.=,ENST00000460150,;C3orf30,synonymous_variant,p.=,ENST00000473121,;C3orf30,synonymous_variant,p.=,ENST00000492792,;IGSF11,upstream_gene_variant,,ENST00000425327,NM_152538.2;IGSF11,upstream_gene_variant,,ENST00000441144,;RP11-484M3.5,upstream_gene_variant,,ENST00000490594,;IGSF11,upstream_gene_variant,,ENST00000494802,;C3orf30,synonymous_variant,p.=,ENST00000494105,;	A	ENST00000295622	Transcript	synonymous_variant	934/1814	894/1611	298/536	V	gtT/gtA		1		1	C3orf30	HGNC	HGNC:26553	protein_coding	YES	CCDS2984.1	ENSP00000295622	Q96M34		UPI000013E280	NM_152539.2			1/3		hmmpanther:PTHR21847,hmmpanther:PTHR21847:SF4																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	41	119147083	119147083	T	A	1	0	0	0	0	0	0	0	1	2063	1799	63	4		4	C3orf30	3	119147083	Silent	SNP	T	C3N-00199_TP	5539990	119147083	79148476	87	11750											
HCLS1	0	.	GRCh38	chr3	121631920	121631920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtccccgccaccagccctCgtccaccatctcaatgtcag	8	7	6	20	3	2	0	2	0	1	0	6	0	4	0	7	0	1	0	7	0	1	0	rs559028635		C3N-00199_TP	C3N-00199_NB	C	C																c.1387G>A	p.Glu463Lys	p.E463K	ENST00000314583	14/14	303	259	44	307	307	0	strelka-varscan-mutect	HCLS1,missense_variant,p.Glu463Lys,ENST00000314583,NM_005335.5;HCLS1,missense_variant,p.Glu426Lys,ENST00000428394,NM_001292041.1;FBXO40,downstream_gene_variant,,ENST00000338040,NM_016298.3;HCLS1,non_coding_transcript_exon_variant,,ENST00000473883,;HCLS1,downstream_gene_variant,,ENST00000495491,;	T	ENST00000314583	Transcript	missense_variant	1479/2000	1387/1461	463/486	E/K	Gag/Aag	rs559028635,COSM5591232,COSM5591233	1		-1	HCLS1	HGNC	HGNC:4844	protein_coding	YES	CCDS3003.1	ENSP00000320176	P14317		UPI000013F884	NM_005335.5	deleterious(0)		14/14		Gene3D:2.30.30.40,Pfam_domain:PF00018,Prints_domain:PR00452,Prints_domain:PR00499,PROSITE_profiles:PS50002,hmmpanther:PTHR10829,hmmpanther:PTHR10829:SF5,SMART_domains:SM00326,Superfamily_domains:SSF50044											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs559028635	.												T	3	4	41	121631920	121631920	C	T	1	0	0	0	0	1	0	0	0	6882	893	31	1		1	HCLS1	3	121631920	Missense_Mutation	SNP	C	C3N-00199_TP	2484837	121631920	76663639	88	11751											
ALG1L	0	.	GRCh38	chr3	125931638	125931638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcgggttctgctcctacCacttgaagttcacggcacac	8	11	9	13	2	2	1	1	1	1	0	4	2	3	1	2	2	2	4	2	2	2	5	rs766790697		C3N-00199_TP	C3N-00199_NB	C	C																c.335G>A	p.Cys112Tyr	p.C112Y	ENST00000611639	4/6	356	284	72	359	359	0	strelka-varscan-mutect	ALG1L,missense_variant,p.Cys92Tyr,ENST00000340333,NM_001015050.2;ALG1L,missense_variant,p.Cys112Tyr,ENST00000611639,NM_001195223.1;FAM86JP,downstream_gene_variant,,ENST00000485843,;FAM86JP,downstream_gene_variant,,ENST00000467239,;FAM86JP,downstream_gene_variant,,ENST00000486431,;FAM86JP,downstream_gene_variant,,ENST00000484500,;	T	ENST00000611639	Transcript	missense_variant,splice_region_variant	335/701	335/624	112/207	C/Y	tGt/tAt	rs766790697	1		-1	ALG1L	HGNC	HGNC:33721	protein_coding	YES	CCDS74998.1	ENSP00000482705		A0A087WZJ8	UPI0000160B1B	NM_001195223.1	deleterious(0)		4/6		hmmpanther:PTHR13036:SF1,hmmpanther:PTHR13036,Superfamily_domains:SSF53756																	MODERATE		SNV	3			1										PASS		rs766790697	.												T	3	4	41	125931638	125931638	C	T	1	0	0	0	0	1	0	0	0	617	608	21	3		3	ALG1L	3	125931638	Missense_Mutation	SNP	C	C3N-00199_TP	4299718	125931638	72363921	89	11752											
PLXNA1	0	.	GRCh38	chr3	127022270	127022270	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatacgccacaggcgtgctCaagcagctgctttccgacct	9	8	10	14	3	1	0	1	0	0	0	2	2	2	0	3	1	5	4	3	1	3	2	rs779534849		C3N-00199_TP	C3N-00199_NB	C	C																c.4224C>G	p.=	p.L1408L	ENST00000393409	21/31	255	206	49	263	263	0	strelka-varscan-mutect	PLXNA1,synonymous_variant,p.=,ENST00000393409,NM_032242.3;PLXNA1,upstream_gene_variant,,ENST00000503234,;	G	ENST00000393409	Transcript	synonymous_variant	4224/9066	4224/5691	1408/1896	L	ctC/ctG	rs779534849	1		1	PLXNA1	HGNC	HGNC:9099	protein_coding	YES	CCDS33847.2	ENSP00000377061	Q9UIW2		UPI00001A7983	NM_032242.3			21/31		Pfam_domain:PF08337,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Superfamily_domains:SSF48350																	LOW	1	SNV	1			1										PASS		rs779534849	.												G	2	3	41	127022270	127022270	C	G	1	0	0	0	0	0	0	0	1	12225	813	29	4		4	PLXNA1	3	127022270	Silent	SNP	C	C3N-00199_TP	1090632	127022270	71273289	90	11753											
SI	0	.	GRCh38	chr3	165049848	165049848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccttttgttgaaccttGaataaagctggaaacttcat	13	14	6	8	0	1	2	1	2	0	0	2	3	2	3	2	1	3	2	2	1	5	6	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1540C>A	p.Gln514Lys	p.Q514K	ENST00000264382	14/48	59	50	9	137	137	0	strelka-varscan-mutect	SI,missense_variant,p.Gln514Lys,ENST00000264382,NM_001041.3;	T	ENST00000264382	Transcript	missense_variant	1603/6011	1540/5484	514/1827	Q/K	Caa/Aaa		1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	tolerated(0.3)		14/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66,Pfam_domain:PF01055																	MODERATE	1	SNV	1			1										PASS		rs1166926043	.												T	3	4	41	165049848	165049848	G	T	1	0	0	0	0	1	0	0	0	14561	1299	45	2		2	SI	3	165049848	Missense_Mutation	SNP	G	C3N-00199_TP	38027578	165049848	33245711	91	11754											
NAALADL2	0	.	GRCh38	chr3	175627291	175627291	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttttttgatttgccgcagGgtccaagttttctctccgag	5	17	9	10	2	2	1	0	1	2	0	5	2	4	1	3	1	1	2	3	1	1	6	rs761944758		C3N-00199_TP	C3N-00199_NB	G	G																c.1801G>C	p.Gly601Arg	p.G601R	ENST00000454872	11/14	101	83	18	287	287	0	strelka-varscan-mutect	NAALADL2,missense_variant,p.Gly601Arg,ENST00000454872,NM_207015.2;NAALADL2,splice_region_variant,,ENST00000489299,;	C	ENST00000454872	Transcript	missense_variant,splice_region_variant	1929/9865	1801/2388	601/795	G/R	Ggt/Cgt	rs761944758	1		1	NAALADL2	HGNC	HGNC:23219	protein_coding	YES	CCDS46960.1	ENSP00000404705	Q58DX5		UPI0000161608	NM_207015.2	tolerated(0.42)		11/14		hmmpanther:PTHR10404:SF32,hmmpanther:PTHR10404,Gene3D:3.40.630.10,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		rs761944758	.												C	3	2	41	175627291	175627291	G	C	1	0	0	0	0	1	0	0	0	10134	1246	43	4		4	NAALADL2	3	175627291	Missense_Mutation	SNP	G	C3N-00199_TP	10577443	175627291	22668268	92	11755											
GNB4	0	.	GRCh38	chr3	179413492	179413492	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatcccataatttggaagAggcatcacaagcaccagaaa	18	7	7	9	0	1	2	1	0	0	2	2	3	2	3	2	2	1	2	2	2	6	3	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.619T>A	p.Ser207Thr	p.S207T	ENST00000232564	8/10	173	135	38	389	389	0	strelka-varscan-mutect	GNB4,missense_variant,p.Ser207Thr,ENST00000232564,NM_021629.3;GNB4,missense_variant,p.Ser207Thr,ENST00000468623,;GNB4,missense_variant,p.Ser130Thr,ENST00000466899,;GNB4,downstream_gene_variant,,ENST00000497513,;GNB4,non_coding_transcript_exon_variant,,ENST00000465153,;	T	ENST00000232564	Transcript	missense_variant	906/6434	619/1023	207/340	S/T	Tct/Act		1		-1	GNB4	HGNC	HGNC:20731	protein_coding	YES	CCDS3230.1	ENSP00000232564	Q9HAV0		UPI000012B21A	NM_021629.3	tolerated(0.98)		8/10		Gene3D:2.130.10.10,Pfam_domain:PF00400,PIRSF_domain:PIRSF002394,Prints_domain:PR00320,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19850,hmmpanther:PTHR19850:SF28,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	179413492	179413492	A	T	1	0	0	0	0	1	0	0	0	6399	304	11	4		4	GNB4	3	179413492	Missense_Mutation	SNP	A	C3N-00199_TP	3786201	179413492	18882067	93	11756											
RTP2	0	.	GRCh38	chr3	187701973	187701973	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacctctcacctgcctgaGgcgtgctgctccaggtactg	6	10	11	14	1	1	2	1	2	1	0	3	2	2	2	4	2	5	3	4	2	2	1	rs764392777		C3N-00199_TP	C3N-00199_NB	G	G																c.156C>A	p.=	p.A52A	ENST00000358241	1/2	52	45	7	46	46	0	strelka-varscan-mutect	RTP2,synonymous_variant,p.=,ENST00000358241,NM_001004312.2;RP11-211G3.3,upstream_gene_variant,,ENST00000449623,;RP11-211G3.3,upstream_gene_variant,,ENST00000437407,;	T	ENST00000358241	Transcript	synonymous_variant	585/1346	156/678	52/225	A	gcC/gcA	rs764392777	1		-1	RTP2	HGNC	HGNC:32486	protein_coding	YES	CCDS33911.1	ENSP00000350976	Q5QGT7		UPI00001D801A	NM_001004312.2			1/2		hmmpanther:PTHR14402:SF18,hmmpanther:PTHR14402,Pfam_domain:PF13695,SMART_domains:SM01328																	LOW	1	SNV	1			1										PASS		rs764392777	.												T	2	4	41	187701973	187701973	G	T	1	0	0	0	0	0	0	0	1	13994	987	35	2		2	RTP2	3	187701973	Silent	SNP	G	C3N-00199_TP	8288481	187701973	10593586	94	11757											
FGFRL1	0	.	GRCh38	chr4	1025288	1025288	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacacacacacacacacTctcacacacactcacacgtg	16	4	2	19	1	2	0	2	0	1	0	3	0	2	0	0	0	0	0	0	0	0	0	rs775503014		C3N-00199_TP	C3N-00199_NB	T	T																c.1456T>A	p.Ser486Thr	p.S486T	ENST00000398484	8/8	250	237	13	265	263	2	varscan-mutect	FGFRL1,missense_variant,p.Ser486Thr,ENST00000398484,;FGFRL1,missense_variant,p.Ser486Thr,ENST00000264748,NM_001004358.1,NM_021923.3;FGFRL1,missense_variant,p.Ser486Thr,ENST00000510644,NM_001004356.2;FGFRL1,missense_variant,p.Ser486Thr,ENST00000504138,;FGFRL1,downstream_gene_variant,,ENST00000512174,;FGFRL1,downstream_gene_variant,,ENST00000507339,;RP11-460I19.2,upstream_gene_variant,,ENST00000503095,;	A	ENST00000398484	Transcript	missense_variant	2036/3639	1456/1515	486/504	S/T	Tct/Act	rs775503014,COSM1207100	1		1	FGFRL1	HGNC	HGNC:3693	protein_coding	YES	CCDS3344.1	ENSP00000381498	Q8N441		UPI000003ED0B		tolerated(1)		8/8		Low_complexity_(Seg):seg											0,1						MODERATE		SNV	5		0,1	1										PASS		rs775503014	.												A	3	1	41	1025288	1025288	T	A	1	0	0	0	0	1	0	0	0	5733	1551	54	4		4	FGFRL1	4	1025288	Missense_Mutation	SNP	T	C3N-00199_TP		1025288	189189267	95	11758											
ADD1	0	.	GRCh38	chr4	2894069	2894069	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcccttttgggcttctttaCagtgaagtgactgcatccag	7	14	10	10	0	1	2	0	2	1	0	3	2	3	2	2	1	2	2	2	1	2	5	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.567C>T	p.=	p.Y189Y	ENST00000264758	5/15	92	72	20	159	159	0	strelka-varscan-mutect	ADD1,synonymous_variant,p.=,ENST00000355842,NM_001286645.1;ADD1,synonymous_variant,p.=,ENST00000398125,NM_176801.2;ADD1,synonymous_variant,p.=,ENST00000264758,NM_014189.3;ADD1,synonymous_variant,p.=,ENST00000398129,NM_001119.4;ADD1,synonymous_variant,p.=,ENST00000446856,;ADD1,synonymous_variant,p.=,ENST00000503455,;ADD1,synonymous_variant,p.=,ENST00000513328,NM_014190.3;ADD1,synonymous_variant,p.=,ENST00000398123,;ADD1,synonymous_variant,p.=,ENST00000508277,;ADD1,upstream_gene_variant,,ENST00000514940,;ADD1,3_prime_UTR_variant,,ENST00000510101,;ADD1,non_coding_transcript_exon_variant,,ENST00000506157,;ADD1,non_coding_transcript_exon_variant,,ENST00000508684,;ADD1,non_coding_transcript_exon_variant,,ENST00000503169,;ADD1,non_coding_transcript_exon_variant,,ENST00000509039,;ADD1,non_coding_transcript_exon_variant,,ENST00000534870,;	T	ENST00000264758	Transcript	synonymous_variant	755/4045	567/2307	189/768	Y	taC/taT		1		1	ADD1	HGNC	HGNC:243	protein_coding	YES	CCDS3363.1	ENSP00000264758	P35611		UPI000002A35E	NM_014189.3			5/15		hmmpanther:PTHR10672:SF4,hmmpanther:PTHR10672,Pfam_domain:PF00596,Gene3D:3.40.225.10,SMART_domains:SM01007,Superfamily_domains:SSF53639																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	41	2894069	2894069	C	T	1	0	0	0	0	0	0	0	1	348	489	17	3		3	ADD1	4	2894069	Silent	SNP	C	C3N-00199_TP	1868781	2894069	187320486	96	11759											
OTOP1	0	.	GRCh38	chr4	4197624	4197624	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagattgagccccaggagaTaagccaggagcccgaggcag	13	3	14	11	1	0	3	0	1	0	2	0	6	0	4	4	3	3	1	4	3	2	2	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.1210A>T	p.Ile404Phe	p.I404F	ENST00000296358	5/6	184	163	21	173	173	0	strelka-varscan-mutect	OTOP1,missense_variant,p.Ile404Phe,ENST00000296358,NM_177998.1;	A	ENST00000296358	Transcript	missense_variant	1235/1864	1210/1839	404/612	I/F	Atc/Ttc		1		-1	OTOP1	HGNC	HGNC:19656	protein_coding	YES	CCDS3372.1	ENSP00000296358	Q7RTM1		UPI0000186945	NM_177998.1	deleterious(0.01)		5/6		Pfam_domain:PF03189,hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF19																	MODERATE	1	SNV	1			1										PASS		rs888869662	.												A	3	1	41	4197624	4197624	T	A	1	0	0	0	0	1	0	0	0	11373	1406	49	4		4	OTOP1	4	4197624	Missense_Mutation	SNP	T	C3N-00199_TP	1303555	4197624	186016931	97	11760											
WFS1	0	.	GRCh38	chr4	6301658	6301658	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggccagcttctctgtggtGgggatggtgaagtccctgac	7	10	15	9	0	1	2	0	2	1	0	3	3	2	3	2	5	1	1	2	5	2	1	rs779337227		C3N-00199_TP	C3N-00199_NB	G	G																c.1863G>T	p.=	p.V621V	ENST00000226760	8/8	257	230	27	218	218	0	strelka-varscan-mutect	WFS1,synonymous_variant,p.=,ENST00000226760,NM_001145853.1,NM_006005.3;WFS1,synonymous_variant,p.=,ENST00000503569,;WFS1,downstream_gene_variant,,ENST00000506362,;WFS1,non_coding_transcript_exon_variant,,ENST00000507765,;WFS1,downstream_gene_variant,,ENST00000513395,;	T	ENST00000226760	Transcript	synonymous_variant	2033/3640	1863/2673	621/890	V	gtG/gtT	rs779337227	1		1	WFS1	HGNC	HGNC:12762	protein_coding	YES	CCDS3386.1	ENSP00000226760	O76024	A0A0S2Z4V6	UPI00000715C3	NM_001145853.1,NM_006005.3			8/8		Prints_domain:PR02061,hmmpanther:PTHR13098																	LOW	1	SNV	1			1										PASS		rs779337227	.												T	2	4	41	6301658	6301658	G	T	1	0	0	0	0	0	0	0	1	17917	1335	47	2		2	WFS1	4	6301658	Silent	SNP	G	C3N-00199_TP	2104034	6301658	183912897	98	11761											
CCDC96	0	.	GRCh38	chr4	7041603	7041603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcagcttttccttcaCgtgggttattacttgcacac	8	14	9	10	1	1	0	1	0	0	0	2	1	2	0	1	1	4	4	1	1	3	6	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1336G>A	p.Val446Met	p.V446M	ENST00000310085	1/1	196	157	39	243	242	1	strelka-varscan-mutect	CCDC96,missense_variant,p.Val446Met,ENST00000310085,NM_153376.2;TADA2B,upstream_gene_variant,,ENST00000310074,NM_152293.2;TADA2B,upstream_gene_variant,,ENST00000512388,;TADA2B,upstream_gene_variant,,ENST00000506692,;RP11-367J11.2,intron_variant,,ENST00000500031,;	T	ENST00000310085	Transcript	missense_variant	1337/2091	1336/1668	446/555	V/M	Gtg/Atg		1		-1	CCDC96	HGNC	HGNC:26900	protein_coding	YES	CCDS3395.1	ENSP00000309285	Q2M329		UPI00000705C9	NM_153376.2	deleterious(0)		1/1		hmmpanther:PTHR15654:SF1,hmmpanther:PTHR15654,Pfam_domain:PF13870																	MODERATE		SNV				1										PASS		.	.												T	3	4	41	7041603	7041603	C	T	1	0	0	0	0	1	0	0	0	2572	536	19	1		1	CCDC96	4	7041603	Missense_Mutation	SNP	C	C3N-00199_TP	739945	7041603	183172952	99	11762											
ADGRL3	0	.	GRCh38	chr4	61909667	61909667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtccgggccatggaccaGctggtaggcctcctagatgt	6	10	13	12	1	1	1	0	0	1	1	3	2	3	2	5	4	1	2	5	4	2	2	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1791G>T	p.Gln597His	p.Q597H	ENST00000514591	11/25	150	136	14	297	297	0	strelka-varscan-mutect	ADGRL3,missense_variant,p.Gln597His,ENST00000512091,NM_001322246.1;ADGRL3,missense_variant,p.Gln597His,ENST00000514591,NM_015236.4;ADGRL3,missense_variant,p.Gln665His,ENST00000509896,;ADGRL3,missense_variant,p.Gln665His,ENST00000511324,;ADGRL3,missense_variant,p.Gln665His,ENST00000508693,;ADGRL3,missense_variant,p.Gln665His,ENST00000507164,;ADGRL3,missense_variant,p.Gln665His,ENST00000506720,;ADGRL3,missense_variant,p.Gln665His,ENST00000506746,;ADGRL3,missense_variant,p.Gln665His,ENST00000507625,;ADGRL3,missense_variant,p.Gln597His,ENST00000506700,;ADGRL3,missense_variant,p.Gln597His,ENST00000504896,;ADGRL3,missense_variant,p.Gln597His,ENST00000514157,;ADGRL3,missense_variant,p.Gln597His,ENST00000508946,;ADGRL3,missense_variant,p.Gln597His,ENST00000514996,;ADGRL3,missense_variant,p.Gln68His,ENST00000502815,;Y_RNA,downstream_gene_variant,,ENST00000365299,;	T	ENST00000514591	Transcript	missense_variant	2120/6297	1791/4410	597/1469	Q/H	caG/caT		1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4	deleterious(0.01)		11/25		hmmpanther:PTHR12011:SF60,hmmpanther:PTHR12011,Pfam_domain:PF16489																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	41	61909667	61909667	G	T	1	0	0	0	0	1	0	0	0	377	962	34	2		2	ADGRL3	4	61909667	Missense_Mutation	SNP	G	C3N-00199_TP	54868064	61909667	128304888	100	11763											
UGT2B11	0	.	GRCh38	chr4	69212667	69212667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaaaactccaggagtttCgcataagccatatgtcagct	13	11	8	9	1	1	1	1	1	0	0	3	2	2	2	2	1	3	3	2	1	4	4	rs72551398		C3N-00199_TP	C3N-00199_NB	C	C																c.776G>T	p.Arg259Leu	p.R259L	ENST00000446444	2/6	140	88	52	347	347	0	strelka-varscan-mutect	UGT2B11,missense_variant,p.Arg259Leu,ENST00000446444,NM_001073.1;RP11-704M14.1,intron_variant,,ENST00000505646,;RP11-704M14.1,intron_variant,,ENST00000504301,;RP11-704M14.2,downstream_gene_variant,,ENST00000514003,;	A	ENST00000446444	Transcript	missense_variant	785/2088	776/1590	259/529	R/L	cGa/cTa	rs72551398	1		-1	UGT2B11	HGNC	HGNC:12545	protein_coding	YES	CCDS3527.1	ENSP00000387683	O75310		UPI0000137A97	NM_001073.1	deleterious(0)		2/6		Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF365,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		rs72551398	.												A	3	1	41	69212667	69212667	C	A	1	0	0	0	0	1	0	0	0	17481	884	31	1		1	UGT2B11	4	69212667	Missense_Mutation	SNP	C	C3N-00199_TP	7303000	69212667	121001888	101	11764											
LIN54	0	.	GRCh38	chr4	82984798	82984798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagttataccagtgtccattAtttcctctggaagcaaacta	13	13	6	9	0	1	0	0	0	1	0	3	1	3	1	3	1	3	2	3	1	7	5	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.47T>C	p.Ile16Thr	p.I16T	ENST00000340417	2/13	57	53	4	161	161	0	varscan-mutect	LIN54,missense_variant,p.Ile16Thr,ENST00000340417,NM_194282.3;LIN54,missense_variant,p.Ile16Thr,ENST00000506560,NM_001288996.1;LIN54,missense_variant,p.Ile16Thr,ENST00000505397,;LIN54,intron_variant,,ENST00000442461,NM_001115008.2;LIN54,intron_variant,,ENST00000446851,NM_001288997.1;LIN54,intron_variant,,ENST00000510557,NM_001115007.2;LIN54,intron_variant,,ENST00000509748,;LIN54,missense_variant,p.Ile16Thr,ENST00000508171,;LIN54,intron_variant,,ENST00000510877,;	G	ENST00000340417	Transcript	missense_variant	425/6127	47/2250	16/749	I/T	aTa/aCa		1		-1	LIN54	HGNC	HGNC:25397	protein_coding	YES	CCDS3599.1	ENSP00000341947	Q6MZP7	A0A024RDD8	UPI00001D75DE	NM_194282.3	deleterious_low_confidence(0)		2/13		hmmpanther:PTHR12446,hmmpanther:PTHR12446:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	41	82984798	82984798	A	G	1	0	0	0	0	1	0	0	0	8717	449	16	5		5	LIN54	4	82984798	Missense_Mutation	SNP	A	C3N-00199_TP	13772131	82984798	107229757	102	11765											
DSPP	0	.	GRCh38	chr4	87613020	87613020	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagtagtaataacagcaaGggccaggagggccaggacca	15	3	14	9	0	0	0	0	0	0	0	0	3	0	2	3	4	2	3	3	4	4	3	rs764046745		C3N-00199_TP	C3N-00199_NB	G	G																c.834G>C	p.Lys278Asn	p.K278N	ENST00000399271	4/5	157	143	14	470	470	0	strelka-varscan-mutect	DSPP,missense_variant,p.Lys278Asn,ENST00000399271,NM_014208.3;DSPP,missense_variant,p.Lys278Asn,ENST00000282478,;RP11-742B18.1,intron_variant,,ENST00000506480,;	C	ENST00000399271	Transcript	missense_variant	954/4331	834/3906	278/1301	K/N	aaG/aaC	rs764046745	1		1	DSPP	HGNC	HGNC:3054	protein_coding	YES	CCDS43248.1	ENSP00000382213	Q9NZW4		UPI00006BFF57	NM_014208.3	tolerated_low_confidence(0.29)		4/5		hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF9																	MODERATE		SNV	5			1										PASS		rs764046745	.												C	3	2	41	87613020	87613020	G	C	1	0	0	0	0	1	0	0	0	4603	991	35	4		4	DSPP	4	87613020	Missense_Mutation	SNP	G	C3N-00199_TP	4628222	87613020	102601535	103	11766											
RP11-766F14.2	0	.	GRCh38	chr4	99650585	99650585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctcaaaggccgctgccCtggcagacacactctcagcg	8	7	11	15	2	2	1	2	0	2	1	4	1	2	1	2	3	2	3	2	3	1	1	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.4064G>T	p.Arg1355Met	p.R1355M	ENST00000511828	1/2	166	149	17	255	255	0	strelka-varscan-mutect	RP11-766F14.2,missense_variant,p.Arg1355Met,ENST00000511828,;	A	ENST00000511828	Transcript	missense_variant	4064/10086	4064/5382	1355/1793	R/M	aGg/aTg		1		-1	RP11-766F14.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000427555		D6RIA3	UPI0001D3B6FE		deleterious(0.01)		1/2																			MODERATE	1	SNV	1			1										PASS		rs1225866777	.												A	3	1	41	99650585	99650585	C	A	1	0	0	0	0	1	0	0	0	13762	681	24	2		2	RP11-766F14.2	4	99650585	Missense_Mutation	SNP	C	C3N-00199_TP	12037565	99650585	90563970	104	11767											
EMCN	0	.	GRCh38	chr4	100421308	100421308	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgccttccagcacattcggTacaaacccaccagaacaaat	14	7	5	15	1	0	1	0	0	0	1	2	1	1	1	4	1	5	2	4	1	4	3			C3N-00199_TP	C3N-00199_NB	T	T																c.638A>T	p.Tyr213Phe	p.Y213F	ENST00000296420	8/12	125	113	12	363	362	1	strelka-varscan-mutect	EMCN,missense_variant,p.Tyr213Phe,ENST00000296420,NM_016242.3;EMCN,missense_variant,p.Tyr200Phe,ENST00000511970,NM_001159694.1;EMCN,missense_variant,p.Tyr162Phe,ENST00000502569,;EMCN,intron_variant,,ENST00000305864,;EMCN,intron_variant,,ENST00000506300,;	A	ENST00000296420	Transcript	missense_variant	817/4037	638/786	213/261	Y/F	tAc/tTc	COSM4120995	1		-1	EMCN	HGNC	HGNC:16041	protein_coding	YES	CCDS3655.1	ENSP00000296420	Q9ULC0	Q4W5J1	UPI000003777D	NM_016242.3	deleterious(0)		8/12		Pfam_domain:PF07010,hmmpanther:PTHR15869,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		rs1304158155	.												A	3	1	41	100421308	100421308	T	A	1	0	0	0	0	1	0	0	0	4930	1638	57	4		4	EMCN	4	100421308	Missense_Mutation	SNP	T	C3N-00199_TP	770723	100421308	89793247	105	11768											
NDST3	0	.	GRCh38	chr4	118233076	118233076	+	Frame_Shift_Del	DEL	A	A	-																															cttagtaactcccccagcccAaaaacctttgaggaggtaca																										C3N-00199_TP	C3N-00199_NB	A	A																c.1888delA	p.Thr630ProfsTer88	p.T630Pfs*88	ENST00000296499	9/14	31	29	2	117	117	0	varindel-pindel	NDST3,frameshift_variant,p.Thr630ProfsTer88,ENST00000296499,NM_004784.2;	-	ENST00000296499	Transcript	frameshift_variant	2287/5961	1884/2622	628/873	P/X	ccA/cc	COSM1495667	1		1	NDST3	HGNC	HGNC:7682	protein_coding	YES	CCDS3708.1	ENSP00000296499	O95803		UPI0000071C44	NM_004784.2			9/14		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF29,Superfamily_domains:SSF52540											1						HIGH	1	deletion	1	4	1	1										PASS		.	.												-	7	5	41	118233076	118233076	A	-	1	0	1	0	1	0	0	0	0	10278	117	5	0		0	NDST3	4	118233076	Frame_Shift_Del	DEL	A	C3N-00199_TP	17811768	118233076	71981479	106	11769											
USP38	0	.	GRCh38	chr4	143220368	143220368	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatttcggcccaatggatTtgatgacaacgacccaccag	11	10	8	12	2	1	2	1	2	0	0	2	4	1	3	3	2	1	0	3	2	2	3	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.3041T>A	p.Phe1014Tyr	p.F1014Y	ENST00000307017	10/10	154	140	14	259	259	0	strelka-varscan-mutect	USP38,missense_variant,p.Phe1014Tyr,ENST00000307017,NM_001290326.1,NM_032557.6;USP38,downstream_gene_variant,,ENST00000510377,NM_001290325.1;USP38,3_prime_UTR_variant,,ENST00000511739,;	A	ENST00000307017	Transcript	missense_variant	3547/7009	3041/3129	1014/1042	F/Y	tTt/tAt		1		1	USP38	HGNC	HGNC:20067	protein_coding	YES	CCDS3758.1	ENSP00000303434	Q8NB14		UPI0000047AF9	NM_001290326.1,NM_032557.6	tolerated(0.14)		10/10																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	143220368	143220368	T	A	1	0	0	0	0	1	0	0	0	17611	1841	64	4		4	USP38	4	143220368	Missense_Mutation	SNP	T	C3N-00199_TP	24987292	143220368	46994187	107	11770											
GUCY1A3	0	.	GRCh38	chr4	155708295	155708295	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagcaagcagttgcagcagGtaatagaattgtttatgtaa	15	11	11	4	0	0	2	0	0	0	2	0	2	0	2	0	1	4	8	0	1	6	7	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.376+1G>T		p.X126_splice	ENST00000296518		27	22	5	71	71	0	strelka-varscan-mutect	GUCY1A3,splice_donor_variant,,ENST00000296518,;GUCY1A3,splice_donor_variant,,ENST00000393832,NM_001130685.2;GUCY1A3,splice_donor_variant,,ENST00000511108,NM_000856.5;GUCY1A3,splice_donor_variant,,ENST00000506455,NM_001130682.2;GUCY1A3,splice_donor_variant,,ENST00000513574,NM_001130684.2;GUCY1A3,splice_donor_variant,,ENST00000455639,NM_001256449.1,NM_001130683.3;GUCY1A3,splice_donor_variant,,ENST00000511507,NM_001130687.2;GUCY1A3,splice_donor_variant,,ENST00000621234,;GUCY1A3,splice_donor_variant,,ENST00000515602,;GUCY1A3,splice_donor_variant,,ENST00000443668,;GUCY1A3,splice_donor_variant,,ENST00000512983,;GUCY1A3,splice_donor_variant,,ENST00000515201,;GUCY1A3,intron_variant,,ENST00000509901,;	T	ENST00000296518	Transcript	splice_donor_variant	-/4400	376/2073	126/690				1		1	GUCY1A3	HGNC	HGNC:4685	protein_coding	YES	CCDS34085.1	ENSP00000296518	Q02108		UPI0000033343					5/9																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	41	155708295	155708295	G	T	1	0	0	0	0	0	0	1	0	6776	1275	44	2		2	GUCY1A3	4	155708295	Splice_Site	SNP	G	C3N-00199_TP	12487927	155708295	34506260	108	11771											
SLC9A3	0	.	GRCh38	chr5	476347	476347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctcgtcctccgtgggcGtgagctcgtgtcggctgtac	2	13	14	12	5	1	1	0	1	1	0	6	1	3	1	2	2	2	4	2	2	1	2	rs372661265		C3N-00199_TP	C3N-00199_NB	G	G																c.1922C>A	p.Thr641Lys	p.T641K	ENST00000264938	13/17	277	223	54	276	276	0	strelka-varscan-mutect	SLC9A3,missense_variant,p.Thr641Lys,ENST00000264938,NM_004174.2;SLC9A3,missense_variant,p.Thr632Lys,ENST00000514375,NM_001284351.1;CTD-2228K2.7,non_coding_transcript_exon_variant,,ENST00000607286,;CTD-2228K2.7,non_coding_transcript_exon_variant,,ENST00000606319,;PP7080,upstream_gene_variant,,ENST00000342584,;PP7080,upstream_gene_variant,,ENST00000510604,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606288,;PP7080,upstream_gene_variant,,ENST00000510714,;PP7080,upstream_gene_variant,,ENST00000502511,;CTD-2228K2.7,upstream_gene_variant,,ENST00000607005,;EXOC3,downstream_gene_variant,,ENST00000509294,;EXOC3,downstream_gene_variant,,ENST00000515601,;EXOC3,downstream_gene_variant,,ENST00000503889,;CTD-2228K2.7,upstream_gene_variant,,ENST00000534918,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606074,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606107,;SLC9A3,downstream_gene_variant,,ENST00000507407,;	T	ENST00000264938	Transcript	missense_variant	1932/2584	1922/2505	641/834	T/K	aCg/aAg	rs372661265	1		-1	SLC9A3	HGNC	HGNC:11073	protein_coding	YES	CCDS3855.1	ENSP00000264938	P48764		UPI000013D597	NM_004174.2	tolerated(0.27)		13/17		hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF90,TIGRFAM_domain:TIGR00840																	MODERATE	1	SNV	1			1										PASS		rs372661265	.												T	3	4	41	476347	476347	G	T	1	0	0	0	0	1	0	0	0	14995	1145	40	1		1	SLC9A3	5	476347	Missense_Mutation	SNP	G	C3N-00199_TP		476347	181061912	109	11772											
CDH12	0	.	GRCh38	chr5	22078458	22078458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccattacctttcccacataCtgaggctcggagcccacgta	9	9	8	15	2	0	1	0	1	0	0	2	2	1	2	4	2	3	2	4	2	3	4			C3N-00199_TP	C3N-00199_NB	C	C																c.219G>T	p.Gln73His	p.Q73H	ENST00000382254	5/15	100	75	25	249	249	0	strelka-varscan-mutect	CDH12,missense_variant,p.Gln73His,ENST00000382254,NM_004061.3;CDH12,missense_variant,p.Gln73His,ENST00000504376,;CDH12,missense_variant,p.Gln73His,ENST00000522262,;CDH12,downstream_gene_variant,,ENST00000518209,;CDH12,downstream_gene_variant,,ENST00000521745,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;	A	ENST00000382254	Transcript	missense_variant	1306/4164	219/2385	73/794	Q/H	caG/caT	COSM737291	1		-1	CDH12	HGNC	HGNC:1751	protein_coding	YES	CCDS3890.1	ENSP00000371689	P55289		UPI00000622EB	NM_004061.3	tolerated(0.18)		5/15		Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF96											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	41	22078458	22078458	C	A	1	0	0	0	0	1	0	0	0	2801	564	20	2		2	CDH12	5	22078458	Missense_Mutation	SNP	C	C3N-00199_TP	21602111	22078458	159459801	110	11773											
PRDM9	0	.	GRCh38	chr5	23527649	23527649	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagacaccagaggacacAcacaggggagaagccctacg	14	2	11	14	1	1	3	1	0	0	3	1	5	1	4	3	3	2	0	3	3	2	1	rs775988761		C3N-00199_TP	C3N-00199_NB	A	A																c.2561A>T	p.His854Leu	p.H854L	ENST00000296682	11/11	455	376	79	515	515	0	strelka-varscan-mutect	PRDM9,missense_variant,p.His854Leu,ENST00000296682,NM_020227.2;PRDM9,downstream_gene_variant,,ENST00000635252,;	T	ENST00000296682	Transcript	missense_variant	2743/3691	2561/2685	854/894	H/L	cAc/cTc	rs775988761	1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	deleterious(0)		11/11		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs775988761	.												T	3	4	41	23527649	23527649	A	T	1	0	0	0	0	1	0	0	0	12595	159	6	4		4	PRDM9	5	23527649	Missense_Mutation	SNP	A	C3N-00199_TP	1449191	23527649	158010610	111	11774											
ADAMTS6	0	.	GRCh38	chr5	65300021	65300021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtagtctcgactgcaagcaGaccaggaaaaaggattggta	14	8	12	7	1	1	1	0	0	1	1	2	4	1	3	1	3	2	4	1	3	5	3	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1334C>T	p.Ser445Phe	p.S445F	ENST00000381055	10/25	64	58	6	182	182	0	strelka-varscan-mutect	ADAMTS6,missense_variant,p.Ser445Phe,ENST00000381055,NM_197941.2;ADAMTS6,3_prime_UTR_variant,,ENST00000381052,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000470597,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000464680,;	A	ENST00000381055	Transcript	missense_variant	2191/7311	1334/3354	445/1117	S/F	tCt/tTt		1		-1	ADAMTS6	HGNC	HGNC:222	protein_coding	YES	CCDS3983.2	ENSP00000370443	Q9UKP5		UPI000050D3F1	NM_197941.2	deleterious(0.01)		10/25		PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF27,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	65300021	65300021	G	A	1	0	0	0	0	1	0	0	0	314	942	33	3		3	ADAMTS6	5	65300021	Missense_Mutation	SNP	G	C3N-00199_TP	41772372	65300021	116238238	112	11775											
MAP1B	0	.	GRCh38	chr5	72199678	72199678	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaatcccaatcctcttgAgtggtttgccagtgaagaac	11	12	8	10	0	1	3	0	2	1	1	3	3	3	3	3	1	2	1	3	1	4	3	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.6323A>G	p.Glu2108Gly	p.E2108G	ENST00000296755	5/7	80	73	7	175	175	0	strelka-varscan-mutect	MAP1B,missense_variant,p.Glu2108Gly,ENST00000296755,NM_001324255.1,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;	G	ENST00000296755	Transcript	missense_variant	6621/12036	6323/7407	2108/2468	E/G	gAg/gGg		1		1	MAP1B	HGNC	HGNC:6836	protein_coding	YES	CCDS4012.1	ENSP00000296755	P46821		UPI000013E382	NM_001324255.1,NM_005909.3	deleterious(0.02)		5/7		hmmpanther:PTHR13843:SF5,hmmpanther:PTHR13843																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	41	72199678	72199678	A	G	1	0	0	0	0	1	0	0	0	9151	304	11	5		5	MAP1B	5	72199678	Missense_Mutation	SNP	A	C3N-00199_TP	6899657	72199678	109338581	113	11776											
CHD1	0	.	GRCh38	chr5	98903881	98903881	+	Missense_Mutation	SNP	C	C	A																															gattgcagatctctgaacggCcagaatactaggactagatt																								novel		C3N-00199_TP	C3N-00199_NB	C	C																c.283G>T	p.Ala95Ser	p.A95S	ENST00000614616	4/36	132	114	18	392	392	0	strelka-varscan-mutect	CHD1,missense_variant,p.Ala95Ser,ENST00000614616,;CHD1,missense_variant,p.Ala95Ser,ENST00000284049,NM_001270.2;	A	ENST00000614616	Transcript	missense_variant	850/8095	283/5133	95/1710	A/S	Gcc/Tcc		1		-1	CHD1	HGNC	HGNC:1915	protein_coding	YES	CCDS34204.1	ENSP00000483667	O14646		UPI000013DD75		deleterious_low_confidence(0.03)		4/36																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	41	98903881	98903881	C	A	1	0	0	0	0	1	0	0	0	3082	739	26	2		2	CHD1	5	98903881	Missense_Mutation	SNP	C	C3N-00199_TP	26704203	98903881	82634378	114	11777	268	2									
CHD1	0	.	GRCh38	chr5	98903882	98903882	+	Silent	SNP	C	C	A																															attgcagatctctgaacggcCagaatactaggactagattt																								novel		C3N-00199_TP	C3N-00199_NB	C	C																c.282G>T	p.=	p.L94L	ENST00000614616	4/36	127	111	16	380	380	0	strelka-varscan-mutect	CHD1,synonymous_variant,p.=,ENST00000614616,;CHD1,synonymous_variant,p.=,ENST00000284049,NM_001270.2;	A	ENST00000614616	Transcript	synonymous_variant	849/8095	282/5133	94/1710	L	ctG/ctT		1		-1	CHD1	HGNC	HGNC:1915	protein_coding	YES	CCDS34204.1	ENSP00000483667	O14646		UPI000013DD75				4/36																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	41	98903882	98903882	C	A	1	0	0	0	0	0	0	0	1	3082	581	21	2		2	CHD1	5	98903882	Silent	SNP	C	C3N-00199_TP	1	98903882	82634377	115	11778	268	2									
RAD50	0	.	GRCh38	chr5	132604808	132604812	+	Frame_Shift_Del	DEL	TCTAG	TCTAG	-																															taatatgtttttgtgtagttTctagtaagattgaattgaat																								novel		C3N-00199_TP	C3N-00199_NB	TCTAG	TCTAG																c.2528_2532delCTAGT	p.Ser843Ter	p.S843*	ENST00000378823	16/25	65	50	15	218	218	0	sindel-varindel-pindel	RAD50,frameshift_variant,p.Ser843Ter,ENST00000378823,NM_005732.3;RAD50,downstream_gene_variant,,ENST00000496204,;RAD50,splice_region_variant,,ENST00000533482,;RAD50,splice_region_variant,,ENST00000423956,;	-	ENST00000378823	Transcript	frameshift_variant,splice_region_variant	2914-2918/8306	2527-2531/3939	843-844/1312	SS/X	TCTAGt/t		1		1	RAD50	HGNC	HGNC:9816	protein_coding	YES	CCDS34233.1	ENSP00000368100	Q92878		UPI000006E9ED	NM_005732.3			16/25		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18867,hmmpanther:PTHR18867:SF12,TIGRFAM_domain:TIGR00606																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	41	132604808	132604808	TCTAG	-	1	0	1	0	1	0	0	0	0	13145	1797	62	0		0	RAD50	5	132604808	Frame_Shift_Del	DEL	TCTAG	C3N-00199_TP	33700926	132604808	48933451	116	11779											
SPATA24	0	.	GRCh38	chr5	139401788	139401788	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagctggtccttcttgcTggactcctgaaggactttgc	6	13	12	10	0	1	2	0	2	1	0	3	5	3	4	2	3	3	2	2	3	1	3	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.352A>T	p.Ser118Cys	p.S118C	ENST00000450845	4/6	197	167	30	184	184	0	strelka-varscan-mutect	SPATA24,missense_variant,p.Ser118Cys,ENST00000302091,;SPATA24,missense_variant,p.Ser118Cys,ENST00000450845,NM_194296.1;SPATA24,missense_variant,p.Ser118Cys,ENST00000451821,;SPATA24,missense_variant,p.Ser96Cys,ENST00000509959,;SPATA24,missense_variant,p.Ser115Cys,ENST00000507779,;SPATA24,missense_variant,p.Ser66Cys,ENST00000512761,;SPATA24,missense_variant,p.Ser115Cys,ENST00000514983,;	A	ENST00000450845	Transcript	missense_variant	360/659	352/618	118/205	S/C	Agc/Tgc		1		-1	SPATA24	HGNC	HGNC:27322	protein_coding	YES	CCDS47274.1	ENSP00000414920	Q86W54		UPI0000198A05	NM_194296.1	deleterious(0.01)		4/6		hmmpanther:PTHR35155,Pfam_domain:PF15175																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	139401788	139401788	T	A	1	0	0	0	0	1	0	0	0	15339	1580	55	4		4	SPATA24	5	139401788	Missense_Mutation	SNP	T	C3N-00199_TP	6796980	139401788	42136471	117	11780											
PCDHA4	0	.	GRCh38	chr5	140809038	140809038	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccggggactggtggCgcgcgcatcccgttccgcgt	3	7	16	15	7	0	0	0	0	0	0	2	1	2	1	3	4	2	3	3	4	0	1	rs370669259		C3N-00199_TP	C3N-00199_NB	C	C																c.1851C>T	p.=	p.G617G	ENST00000530339	1/4	449	369	80	395	395	0	strelka-varscan-mutect	PCDHA4,synonymous_variant,p.=,ENST00000618834,NM_031500.2;PCDHA4,synonymous_variant,p.=,ENST00000530339,NM_018907.3;PCDHA4,synonymous_variant,p.=,ENST00000512229,;PCDHA4,synonymous_variant,p.=,ENST00000378125,;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA3,downstream_gene_variant,,ENST00000532566,NM_031497.1;PCDHA2,downstream_gene_variant,,ENST00000520672,NM_031496.1;AC005609.16,intron_variant,,ENST00000624712,;	T	ENST00000530339	Transcript	synonymous_variant	1851/5251	1851/2844	617/947	G	ggC/ggT	rs370669259,COSM1061952,COSM1061953	1		1	PCDHA4	HGNC	HGNC:8670	protein_coding	YES	CCDS54916.1	ENSP00000435300	Q9UN74		UPI00001273CC	NM_018907.3			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF82,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs370669259	.												T	2	4	41	140809038	140809038	C	T	1	0	0	0	0	0	0	0	1	11613	755	27	1		1	PCDHA4	5	140809038	Silent	SNP	C	C3N-00199_TP	1407250	140809038	40729221	118	11781											
PCDHA6	0	.	GRCh38	chr5	140829250	140829250	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaacgggcaggtgaacTgctcgctgacgcctcacgtc	7	7	13	14	4	1	2	1	2	0	0	3	2	1	2	2	2	4	3	2	2	2	0	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.1159T>A	p.Cys387Ser	p.C387S	ENST00000529310	1/4	401	353	48	477	477	0	strelka-varscan-mutect	PCDHA6,missense_variant,p.Cys387Ser,ENST00000529310,NM_018909.3;PCDHA6,missense_variant,p.Cys387Ser,ENST00000378126,NM_031848.2;PCDHA6,missense_variant,p.Cys387Ser,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA5,downstream_gene_variant,,ENST00000614258,NM_031501.1;PCDHA7,upstream_gene_variant,,ENST00000356878,NM_031852.1;	A	ENST00000529310	Transcript	missense_variant	1273/5374	1159/2853	387/950	C/S	Tgc/Agc		1		1	PCDHA6	HGNC	HGNC:8672	protein_coding	YES	CCDS47281.1	ENSP00000433378	Q9UN73		UPI00001273CE	NM_018909.3	deleterious_low_confidence(0.01)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF131,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	140829250	140829250	T	A	1	0	0	0	0	1	0	0	0	11615	1580	55	4		4	PCDHA6	5	140829250	Missense_Mutation	SNP	T	C3N-00199_TP	20212	140829250	40709009	119	11782											
PCDHA10	0	.	GRCh38	chr5	140856191	140856191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcgtgggccgcatcgCgcaggacctggggctggagc	5	6	16	14	4	0	0	0	0	0	0	2	2	0	2	3	5	1	3	3	5	0	1	rs773891459		C3N-00199_TP	C3N-00199_NB	C	C																c.143C>T	p.Ala48Val	p.A48V	ENST00000307360	1/4	702	618	84	527	526	1	strelka-varscan-mutect	PCDHA10,missense_variant,p.Ala48Val,ENST00000562220,NM_031859.2;PCDHA10,missense_variant,p.Ala48Val,ENST00000307360,NM_018901.3;PCDHA10,missense_variant,p.Ala48Val,ENST00000506939,NM_031860.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA9,downstream_gene_variant,,ENST00000378122,NM_014005.4;	T	ENST00000307360	Transcript	missense_variant	143/5254	143/2847	48/948	A/V	gCg/gTg	rs773891459,COSM3409837,COSM3409838,COSM3409839	1		1	PCDHA10	HGNC	HGNC:8664	protein_coding	YES	CCDS54921.1	ENSP00000304234	Q9Y5I2		UPI00001273D3	NM_018901.3	deleterious_low_confidence(0.01)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF124,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs773891459	.												T	3	4	41	140856191	140856191	C	T	1	0	0	0	0	1	0	0	0	11607	768	27	1		1	PCDHA10	5	140856191	Missense_Mutation	SNP	C	C3N-00199_TP	26941	140856191	40682068	120	11783											
PCDHB6	0	.	GRCh38	chr5	141150858	141150858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctagacaaaccgttggacCgcgaggagcagccccaactc	11	5	11	14	3	0	1	0	0	0	1	1	4	0	3	4	2	5	3	4	2	3	2	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.601C>A	p.Arg201Ser	p.R201S	ENST00000231136	1/1	270	203	67	221	221	0	strelka-varscan-mutect	PCDHB6,missense_variant,p.Arg201Ser,ENST00000231136,NM_018939.3;PCDHB6,missense_variant,p.Arg65Ser,ENST00000622991,NM_001303145.1;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;	A	ENST00000231136	Transcript	missense_variant	837/3266	601/2385	201/794	R/S	Cgc/Agc		1		1	PCDHB6	HGNC	HGNC:8691	protein_coding	YES	CCDS4248.1	ENSP00000231136	Q9Y5E3		UPI0003CC25E7	NM_018939.3	deleterious_low_confidence(0)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	41	141150858	141150858	C	A	1	0	0	0	0	1	0	0	0	11633	652	23	1		1	PCDHB6	5	141150858	Missense_Mutation	SNP	C	C3N-00199_TP	294667	141150858	40387401	121	11784											
PCDHB9	0	.	GRCh38	chr5	141188287	141188287	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaatatacaggcaatggaCggcggaggcctttctgcaag	13	8	12	8	2	1	0	0	0	1	0	1	2	1	2	1	5	2	2	1	5	6	4	rs782033630		C3N-00199_TP	C3N-00199_NB	C	C																c.969C>T	p.=	p.D323D	ENST00000316105	1/1	87	78	9	249	248	1	strelka-varscan-mutect	PCDHB9,synonymous_variant,p.=,ENST00000316105,NM_019119.4;PCDHB9,5_prime_UTR_variant,,ENST00000624909,;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.3;PCDHB16,downstream_gene_variant,,ENST00000625044,;CH17-140K24.5,downstream_gene_variant,,ENST00000623884,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,upstream_gene_variant,,ENST00000624089,;CH17-140K24.6,downstream_gene_variant,,ENST00000625144,;PCDHB9,intron_variant,,ENST00000623266,;CH17-140K24.5,intron_variant,,ENST00000623407,;	T	ENST00000316105	Transcript	synonymous_variant	1161/4415	969/2394	323/797	D	gaC/gaT	rs782033630	1		1	PCDHB9	HGNC	HGNC:8694	protein_coding	YES	CCDS75328.1	ENSP00000478606	Q9Y5E1		UPI00005764A0	NM_019119.4			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF128,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	LOW		SNV				1										PASS		rs782033630	.												T	2	4	41	141188287	141188287	C	T	1	0	0	0	0	0	0	0	1	11636	535	19	1		1	PCDHB9	5	141188287	Silent	SNP	C	C3N-00199_TP	37429	141188287	40349972	122	11785											
PCDHGA2	0	.	GRCh38	chr5	141340457	141340457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctttcgcggaggacactGttcagggggcacccttatcc	7	10	11	13	2	2	0	1	0	1	0	4	2	3	2	2	4	0	2	2	4	1	3	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1486G>T	p.Val496Phe	p.V496F	ENST00000394576	1/4	224	155	69	261	261	0	strelka-varscan-mutect	PCDHGA2,missense_variant,p.Val496Phe,ENST00000394576,NM_018915.3;PCDHGA2,missense_variant,p.Val496Phe,ENST00000528330,NM_032009.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3;PCDHGA3,upstream_gene_variant,,ENST00000619750,NM_032011.1;PCDHGA3,upstream_gene_variant,,ENST00000612467,;	T	ENST00000394576	Transcript	missense_variant	1486/4605	1486/2799	496/932	V/F	Gtt/Ttt		1		1	PCDHGA2	HGNC	HGNC:8700	protein_coding	YES	CCDS47289.1	ENSP00000378077	Q9Y5H1		UPI0000072E67	NM_018915.3	tolerated_low_confidence(0.18)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF134,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	141340457	141340457	G	T	1	0	0	0	0	1	0	0	0	11641	1377	48	2		2	PCDHGA2	5	141340457	Missense_Mutation	SNP	G	C3N-00199_TP	152170	141340457	40197802	123	11786											
PCDHGA4	0	.	GRCh38	chr5	141356726	141356726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctatgtctccatcaactCcaatacagggatcctatatg	11	12	5	13	0	2	0	1	0	1	0	6	1	5	1	4	1	2	0	4	1	6	4	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1619C>A	p.Ser540Tyr	p.S540Y	ENST00000571252	1/4	221	191	30	367	367	0	strelka-varscan-mutect	PCDHGA4,missense_variant,p.Ser540Tyr,ENST00000571252,NM_018917.3;PCDHGA4,missense_variant,p.Ser540Tyr,ENST00000612927,NM_032053.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB2,upstream_gene_variant,,ENST00000522605,NM_018923.2;PCDHGB1,downstream_gene_variant,,ENST00000611598,NM_032095.1;PCDHGB2,upstream_gene_variant,,ENST00000622527,NM_032096.1;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000571252	Transcript	missense_variant	1702/4778	1619/2889	540/962	S/Y	tCc/tAc		1		1	PCDHGA4	HGNC	HGNC:8702	protein_coding	YES	CCDS58979.2	ENSP00000458570		A0A087WT05	UPI0003583741	NM_018917.3	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF94,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs1209862693	.												A	3	1	41	141356726	141356726	C	A	1	0	0	0	0	1	0	0	0	11643	855	30	2		2	PCDHGA4	5	141356726	Missense_Mutation	SNP	C	C3N-00199_TP	16269	141356726	40181533	124	11787											
GABRA6	0	.	GRCh38	chr5	161689044	161689044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtctgaataatttgatGgtcagtaaaatctggacgcc	12	12	10	7	1	3	3	1	3	2	0	3	4	3	4	1	2	0	1	1	2	4	3	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.321G>C	p.Met107Ile	p.M107I	ENST00000274545	4/9	233	181	52	497	497	0	strelka-varscan-mutect	GABRA6,missense_variant,p.Met97Ile,ENST00000523217,;GABRA6,missense_variant,p.Met107Ile,ENST00000274545,NM_000811.2;GABRA6,missense_variant,p.Met47Ile,ENST00000520000,;GABRA6,missense_variant,p.Met2Ile,ENST00000523691,;GABRA6,missense_variant,p.Met54Ile,ENST00000517823,;RP11-348M17.2,intron_variant,,ENST00000521984,;GABRA6,downstream_gene_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,non_coding_transcript_exon_variant,,ENST00000524220,;GABRA6,upstream_gene_variant,,ENST00000521520,;	C	ENST00000274545	Transcript	missense_variant	754/2128	321/1362	107/453	M/I	atG/atC		1		1	GABRA6	HGNC	HGNC:4080	protein_coding	YES	CCDS4356.1	ENSP00000274545	Q16445		UPI000013DA14	NM_000811.2	deleterious(0)		4/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	41	161689044	161689044	G	C	1	0	0	0	0	1	0	0	0	6036	1348	47	4		4	GABRA6	5	161689044	Missense_Mutation	SNP	G	C3N-00199_TP	20332318	161689044	19849215	125	11788											
GABRA1	0	.	GRCh38	chr5	161873185	161873185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaaatttaaaggacctatGacagtcctccggttaaataa	16	12	6	7	1	0	1	0	1	0	0	2	2	2	2	3	2	0	1	3	2	8	6	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.324G>A	p.Met108Ile	p.M108I	ENST00000393943	5/10	245	182	63	401	401	0	strelka-varscan-mutect	GABRA1,missense_variant,p.Met108Ile,ENST00000393943,NM_001127644.1,NM_001127648.1;GABRA1,missense_variant,p.Met108Ile,ENST00000428797,NM_001127643.1;GABRA1,missense_variant,p.Met123Ile,ENST00000638159,;GABRA1,missense_variant,p.Met108Ile,ENST00000437025,NM_001127645.1;GABRA1,missense_variant,p.Met108Ile,ENST00000638112,;GABRA1,missense_variant,p.Met108Ile,ENST00000636573,;GABRA1,missense_variant,p.Met108Ile,ENST00000023897,NM_000806.5;GABRA1,missense_variant,p.Met108Ile,ENST00000637827,;GABRA1,missense_variant,p.Met108Ile,ENST00000635880,;GABRA1,missense_variant,p.Met108Ile,ENST00000634335,;GABRA1,missense_variant,p.Met108Ile,ENST00000519621,;GABRA1,downstream_gene_variant,,ENST00000522651,;GABRA1,non_coding_transcript_exon_variant,,ENST00000636408,;GABRA1,non_coding_transcript_exon_variant,,ENST00000635916,;GABRA1,3_prime_UTR_variant,,ENST00000637044,;GABRA1,3_prime_UTR_variant,,ENST00000636340,;GABRA1,non_coding_transcript_exon_variant,,ENST00000519542,;	A	ENST00000393943	Transcript	missense_variant	1107/4686	324/1371	108/456	M/I	atG/atA		1		1	GABRA1	HGNC	HGNC:4075	protein_coding	YES	CCDS4357.1	ENSP00000377517	P14867		UPI000012AF95	NM_001127644.1,NM_001127648.1	tolerated(0.5)		5/10		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF514,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	161873185	161873185	G	A	1	0	0	0	0	1	0	0	0	6031	1290	45	3		3	GABRA1	5	161873185	Missense_Mutation	SNP	G	C3N-00199_TP	184141	161873185	19665074	126	11789											
TENM2	0	.	GRCh38	chr5	167375331	167375331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgccgactccgacaccgaGggagggatgtctccagaaca	11	4	13	13	4	1	1	0	0	1	1	3	7	2	3	4	2	1	0	4	2	1	0			C3N-00199_TP	C3N-00199_NB	G	G																c.360G>T	p.Glu120Asp	p.E120D	ENST00000518659	2/29	587	386	201	420	419	1	strelka-varscan-mutect	TENM2,missense_variant,p.Glu120Asp,ENST00000518659,NM_001122679.1;	T	ENST00000518659	Transcript	missense_variant	399/8550	360/8325	120/2774	E/D	gaG/gaT	COSM5424874,COSM5424875	1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1	tolerated_low_confidence(0.45)		2/29		PROSITE_profiles:PS51361,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,Pfam_domain:PF06484											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs918452735	.												T	3	4	41	167375331	167375331	G	T	1	0	0	0	0	1	0	0	0	16172	991	35	2		2	TENM2	5	167375331	Missense_Mutation	SNP	G	C3N-00199_TP	5502146	167375331	14162928	127	11790											
ADAMTS2	0	.	GRCh38	chr5	179154074	179154074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagcggctcagctcctgctGgctgcagcgggaccagtgga	6	7	16	12	2	1	0	1	0	0	0	2	2	2	2	2	4	5	6	2	4	1	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1357C>A	p.Gln453Lys	p.Q453K	ENST00000251582	8/22	465	318	147	343	342	1	strelka-varscan-mutect	ADAMTS2,missense_variant,p.Gln453Lys,ENST00000251582,NM_014244.4;ADAMTS2,missense_variant,p.Gln453Lys,ENST00000274609,NM_021599.2;	T	ENST00000251582	Transcript	missense_variant	1459/6754	1357/3636	453/1211	Q/K	Cag/Aag		1		-1	ADAMTS2	HGNC	HGNC:218	protein_coding	YES	CCDS4444.1	ENSP00000251582	O95450		UPI00001AE729	NM_014244.4	tolerated(1)		8/22		PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	179154074	179154074	G	T	1	0	0	0	0	1	0	0	0	309	1357	47	2		2	ADAMTS2	5	179154074	Missense_Mutation	SNP	G	C3N-00199_TP	11778743	179154074	2384185	128	11791											
TNXB	0	.	GRCh38	chr6	32042607	32042607	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggatccgcagcccacCtgggagaggagagcaggggc	10	2	19	10	1	0	2	0	0	0	2	1	6	1	3	3	6	2	2	3	6	1	0	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1346-1G>T		p.X449_splice	ENST00000451343		518	416	102	435	435	0	strelka-varscan-mutect	TNXB,splice_acceptor_variant,,ENST00000375244,NM_019105.6;TNXB,splice_acceptor_variant,,ENST00000611016,;TNXB,splice_acceptor_variant,,ENST00000451343,NM_032470.3;CYP21A2,downstream_gene_variant,,ENST00000418967,NM_000500.7;CYP21A2,downstream_gene_variant,,ENST00000435122,NM_001128590.3;CYP21A2,downstream_gene_variant,,ENST00000478281,;CYP21A2,downstream_gene_variant,,ENST00000471671,;TNXB,splice_acceptor_variant,,ENST00000490077,;TNXB,splice_acceptor_variant,,ENST00000498094,;CYP21A2,downstream_gene_variant,,ENST00000479074,;CYP21A2,downstream_gene_variant,,ENST00000479730,;CYP21A2,downstream_gene_variant,,ENST00000486063,;CYP21A2,downstream_gene_variant,,ENST00000483041,;CYP21A2,downstream_gene_variant,,ENST00000466779,;CYP21A2,downstream_gene_variant,,ENST00000466879,;CYP21A2,downstream_gene_variant,,ENST00000480027,;CYP21A2,downstream_gene_variant,,ENST00000488465,;CYP21A2,downstream_gene_variant,,ENST00000464325,;CYP21A2,downstream_gene_variant,,ENST00000469053,;CYP21A2,downstream_gene_variant,,ENST00000462278,;	A	ENST00000451343	Transcript	splice_acceptor_variant	-/3125	1346/2022	449/673				1		-1	TNXB	HGNC	HGNC:11976	protein_coding	YES	CCDS4736.1	ENSP00000407685	P22105		UPI0000000E8E	NM_032470.3				8/12																		HIGH	1	SNV	1			1										PASS		rs1194542776	.												A	5	1	41	32042607	32042607	C	A	1	0	0	0	0	0	0	1	0	16820	695	24	2		2	TNXB	6	32042607	Splice_Site	SNP	C	C3N-00199_TP		32042607	138763372	129	11792											
CUL9	0	.	GRCh38	chr6	43206123	43206123	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctgatgctgcagagccTgagcacctctgaggagctgc	9	7	13	12	0	1	4	0	3	1	1	1	5	1	5	2	1	7	5	2	1	0	0	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.4910T>G	p.Leu1637Arg	p.L1637R	ENST00000252050	25/41	301	230	71	234	234	0	strelka-varscan-mutect	CUL9,missense_variant,p.Leu1637Arg,ENST00000252050,NM_015089.3;CUL9,missense_variant,p.Leu1637Arg,ENST00000372647,;CUL9,upstream_gene_variant,,ENST00000502937,;CUL9,missense_variant,p.Leu14Arg,ENST00000502719,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,non_coding_transcript_exon_variant,,ENST00000504485,;CUL9,downstream_gene_variant,,ENST00000512408,;CUL9,downstream_gene_variant,,ENST00000515344,;CUL9,upstream_gene_variant,,ENST00000505172,;	G	ENST00000252050	Transcript	missense_variant	4994/7780	4910/7554	1637/2517	L/R	cTg/cGg		1		1	CUL9	HGNC	HGNC:15982	protein_coding	YES	CCDS4890.1	ENSP00000252050	Q8IWT3		UPI000006F22F	NM_015089.3	deleterious(0)		25/41		PROSITE_profiles:PS50069,hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771,Pfam_domain:PF00888,Superfamily_domains:SSF75632																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	41	43206123	43206123	T	G	1	0	0	0	0	1	0	0	0	3871	1580	55	5		5	CUL9	6	43206123	Missense_Mutation	SNP	T	C3N-00199_TP	11163516	43206123	127599856	130	11793											
FAM83B	0	.	GRCh38	chr6	54870595	54870595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgatgcccggactcttaGggggcacccatatagatctc	9	10	11	11	1	2	2	0	1	2	1	3	3	2	3	2	3	1	1	2	3	3	3	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.349G>T	p.Gly117Trp	p.G117W	ENST00000306858	2/5	138	107	31	287	287	0	strelka-varscan-mutect	FAM83B,missense_variant,p.Gly117Trp,ENST00000306858,NM_001010872.2;	T	ENST00000306858	Transcript	missense_variant	465/3167	349/3036	117/1011	G/W	Ggg/Tgg		1		1	FAM83B	HGNC	HGNC:21357	protein_coding	YES	CCDS34479.1	ENSP00000304078	Q5T0W9		UPI00001D81EC	NM_001010872.2	deleterious(0.01)		2/5		hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF4,Pfam_domain:PF07894																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	54870595	54870595	G	T	1	0	0	0	0	1	0	0	0	5492	1000	35	2		2	FAM83B	6	54870595	Missense_Mutation	SNP	G	C3N-00199_TP	11664472	54870595	115935384	131	11794											
GFRAL	0	.	GRCh38	chr6	55327577	55327577	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatagtgtttattttcttggGtaagtgaatggtgcttctgg	7	18	13	3	0	2	1	0	1	2	0	2	2	2	1	0	3	1	3	0	3	4	8	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.22+1G>A		p.X8_splice	ENST00000340465		66	50	16	168	168	0	strelka-varscan-mutect	GFRAL,splice_donor_variant,,ENST00000340465,NM_207410.2;	A	ENST00000340465	Transcript	splice_donor_variant	-/1911	22/1185	8/394				1		1	GFRAL	HGNC	HGNC:32789	protein_coding	YES	CCDS4957.1	ENSP00000343636	Q6UXV0		UPI000023780D	NM_207410.2				1/8																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	41	55327577	55327577	G	A	1	0	0	0	0	0	0	1	0	6225	1275	44	3		3	GFRAL	6	55327577	Splice_Site	SNP	G	C3N-00199_TP	456982	55327577	115478402	132	11795											
BACH2	0	.	GRCh38	chr6	89951592	89951592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcttggccgtctctgaatCcatcgtctcctcctcttcat	5	15	5	16	2	5	1	1	1	4	0	10	1	7	1	4	1	0	0	4	1	1	2	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.514G>T	p.Asp172Tyr	p.D172Y	ENST00000257749	7/9	483	389	94	433	430	3	strelka-varscan-mutect	BACH2,missense_variant,p.Asp172Tyr,ENST00000257749,NM_021813.3;BACH2,missense_variant,p.Asp172Tyr,ENST00000537989,NM_001170794.1;BACH2,missense_variant,p.Asp172Tyr,ENST00000343122,;RP3-512E2.2,intron_variant,,ENST00000445838,;RP3-512E2.2,intron_variant,,ENST00000413986,;	A	ENST00000257749	Transcript	missense_variant	1222/9113	514/2526	172/841	D/Y	Gat/Tat		1		-1	BACH2	HGNC	HGNC:14078	protein_coding	YES	CCDS5026.1	ENSP00000257749	Q9BYV9		UPI000004F8AD	NM_021813.3	deleterious(0.01)		7/9		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	89951592	89951592	C	A	1	0	0	0	0	1	0	0	0	1442	855	30	2		2	BACH2	6	89951592	Missense_Mutation	SNP	C	C3N-00199_TP	34624015	89951592	80854387	133	11796											
UFL1	0	.	GRCh38	chr6	96549484	96549484	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaacttctgcttctgggacGggcagaaaacgcacaatcaa	14	7	9	11	2	3	1	1	0	2	1	3	2	3	2	0	2	3	3	0	2	5	2	rs139773222		C3N-00199_TP	C3N-00199_NB	G	G																c.1593G>T	p.=	p.T531T	ENST00000369278	14/19	45	32	13	144	144	0	strelka-varscan-mutect	UFL1,synonymous_variant,p.=,ENST00000369278,NM_015323.4;	T	ENST00000369278	Transcript	synonymous_variant	1659/4224	1593/2385	531/794	T	acG/acT	rs139773222	1		1	UFL1	HGNC	HGNC:23039	protein_coding	YES	CCDS5034.1	ENSP00000358283	O94874		UPI0000072D61	NM_015323.4			14/19		hmmpanther:PTHR31057,hmmpanther:PTHR31057:SF0																	LOW	1	SNV	1			1										PASS		rs139773222	.												T	2	4	41	96549484	96549484	G	T	1	0	0	0	0	0	0	0	1	17460	1103	39	1		1	UFL1	6	96549484	Silent	SNP	G	C3N-00199_TP	6597892	96549484	74256495	134	11797											
UNC93A	0	.	GRCh38	chr6	167294570	167294570	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgctcagcaccctctaTggaggcatgctcctgtcctc	7	9	9	16	1	2	0	1	0	1	0	5	1	4	1	3	2	3	4	3	2	1	1	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.141T>C	p.=	p.Y47Y	ENST00000230256	2/8	322	264	58	245	245	0	strelka-varscan-mutect	UNC93A,synonymous_variant,p.=,ENST00000230256,NM_018974.3;UNC93A,synonymous_variant,p.=,ENST00000366829,NM_001143947.1;UNC93A,synonymous_variant,p.=,ENST00000503433,;UNC93A,non_coding_transcript_exon_variant,,ENST00000366830,;UNC93A,non_coding_transcript_exon_variant,,ENST00000504706,;	C	ENST00000230256	Transcript	synonymous_variant	316/2116	141/1374	47/457	Y	taT/taC		1		1	UNC93A	HGNC	HGNC:12570	protein_coding	YES	CCDS5300.1	ENSP00000230256	Q86WB7		UPI0000062351	NM_018974.3			2/8		Gene3D:1.20.1250.20,Pfam_domain:PF05978,hmmpanther:PTHR19444,hmmpanther:PTHR19444:SF14,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	41	167294570	167294570	T	C	1	0	0	0	0	0	0	0	1	17522	1471	51	5		5	UNC93A	6	167294570	Silent	SNP	T	C3N-00199_TP	70745086	167294570	3511409	135	11798											
ELFN1	0	.	GRCh38	chr7	1746052	1746052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctggccccgctgtcccagGgcccgctgctgggccccgag	2	5	15	19	3	0	0	0	0	0	0	1	1	1	0	7	3	1	3	7	3	0	0	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1456G>T	p.Gly486Cys	p.G486C	ENST00000424383	3/3	179	98	81	129	129	0	strelka-varscan-mutect	ELFN1,missense_variant,p.Gly486Cys,ENST00000424383,;ELFN1,missense_variant,p.Gly486Cys,ENST00000561626,NM_001128636.2;ELFN1-AS1,upstream_gene_variant,,ENST00000453348,;ELFN1-AS1,upstream_gene_variant,,ENST00000415399,;	T	ENST00000424383	Transcript	missense_variant	1943/3845	1456/2487	486/828	G/C	Ggc/Tgc		1		1	ELFN1	HGNC	HGNC:33154	protein_coding	YES	CCDS59046.1	ENSP00000456548	P0C7U0		UPI0000251E11		deleterious(0.01)		3/3		hmmpanther:PTHR24367:SF34,hmmpanther:PTHR24367																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	41	1746052	1746052	G	T	1	0	0	0	0	1	0	0	0	4891	1232	43	2		2	ELFN1	7	1746052	Missense_Mutation	SNP	G	C3N-00199_TP		1746052	157599921	136	11799											
HOXA2	0	.	GRCh38	chr7	27101235	27101235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatttcccttcgctgttttGgttttccttgcactgggtct	3	19	8	11	1	1	0	0	0	1	0	4	0	3	0	2	2	1	4	2	2	0	7	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.622C>A	p.Gln208Lys	p.Q208K	ENST00000222718	2/2	577	381	196	678	678	0	strelka-varscan-mutect	HOXA2,missense_variant,p.Gln208Lys,ENST00000222718,NM_006735.3;HOXA3,downstream_gene_variant,,ENST00000612286,NM_153631.2;HOXA3,downstream_gene_variant,,ENST00000396352,NM_030661.4;HOTAIRM1,downstream_gene_variant,,ENST00000428939,;HOTAIRM1,downstream_gene_variant,,ENST00000429611,;HOTAIRM1,downstream_gene_variant,,ENST00000434063,;HOTAIRM1,downstream_gene_variant,,ENST00000593300,;HOTAIRM1,downstream_gene_variant,,ENST00000425358,;HOTAIRM1_2,downstream_gene_variant,,ENST00000616712,;HOTAIRM1,downstream_gene_variant,,ENST00000495032,;HOTAIRM1_5,downstream_gene_variant,,ENST00000619311,;HOTAIRM1_1,downstream_gene_variant,,ENST00000622675,;HOTAIRM1_4,downstream_gene_variant,,ENST00000617934,;HOTAIRM1_3,downstream_gene_variant,,ENST00000619974,;HOXA2,non_coding_transcript_exon_variant,,ENST00000612779,;	T	ENST00000222718	Transcript	missense_variant	933/1814	622/1131	208/376	Q/K	Caa/Aaa		1		-1	HOXA2	HGNC	HGNC:5103	protein_coding	YES	CCDS5403.1	ENSP00000222718	O43364		UPI0000049C49	NM_006735.3	tolerated(0.93)		2/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF179																	MODERATE	1	SNV	1			1										PASS		rs760839440	.												T	3	4	41	27101235	27101235	G	T	1	0	0	0	0	1	0	0	0	7186	1357	47	2		2	HOXA2	7	27101235	Missense_Mutation	SNP	G	C3N-00199_TP	25355183	27101235	132244738	137	11800											
PPP1R17	0	.	GRCh38	chr7	31697107	31697107	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccctgcacatgtccccCtttgcagcaggtaaaaaagc	10	8	8	15	0	0	0	0	0	0	0	1	0	1	0	4	1	5	4	4	1	3	2	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.378C>A	p.=	p.P126P	ENST00000342032	4/5	85	54	31	122	122	0	strelka-varscan-mutect	PPP1R17,synonymous_variant,p.=,ENST00000342032,NM_006658.4;PPP1R17,synonymous_variant,p.=,ENST00000409146,NM_001145123.2;PPP1R17,non_coding_transcript_exon_variant,,ENST00000498609,;	A	ENST00000342032	Transcript	synonymous_variant	1006/2268	378/468	126/155	P	ccC/ccA		1		1	PPP1R17	HGNC	HGNC:16973	protein_coding	YES	CCDS5436.1	ENSP00000340125	O96001	A0A090N8N7	UPI000006D182	NM_006658.4			4/5		hmmpanther:PTHR15387,hmmpanther:PTHR15387:SF0																	LOW	1	SNV	1			1										PASS		rs959754348	.												A	2	1	41	31697107	31697107	C	A	1	0	0	0	0	0	0	0	1	12477	668	24	2		2	PPP1R17	7	31697107	Silent	SNP	C	C3N-00199_TP	4595872	31697107	127648866	138	11801											
CAMK2B	0	.	GRCh38	chr7	44220653	44220653	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggaagtccatcccttcAaccaggttgcccagtgcttc	7	11	9	14	0	1	0	1	0	0	0	4	1	3	1	4	2	3	2	4	2	2	3	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.1731T>A	p.=	p.V577V	ENST00000395749	22/24	230	184	46	174	174	0	strelka-varscan-mutect	CAMK2B,synonymous_variant,p.=,ENST00000395749,NM_001220.4;CAMK2B,synonymous_variant,p.=,ENST00000457475,NM_172079.2;CAMK2B,synonymous_variant,p.=,ENST00000350811,NM_001293170.1;CAMK2B,synonymous_variant,p.=,ENST00000440254,NM_172078.2;CAMK2B,synonymous_variant,p.=,ENST00000358707,NM_172081.2;CAMK2B,synonymous_variant,p.=,ENST00000258682,NM_172080.2;CAMK2B,synonymous_variant,p.=,ENST00000353625,NM_172083.2;CAMK2B,synonymous_variant,p.=,ENST00000395747,;CAMK2B,synonymous_variant,p.=,ENST00000346990,NM_172084.2;CAMK2B,synonymous_variant,p.=,ENST00000425809,;CAMK2B,intron_variant,,ENST00000347193,NM_172082.2;CAMK2B,non_coding_transcript_exon_variant,,ENST00000489429,;CAMK2B,non_coding_transcript_exon_variant,,ENST00000497584,;CAMK2B,3_prime_UTR_variant,,ENST00000523845,;CAMK2B,3_prime_UTR_variant,,ENST00000353185,;CAMK2B,non_coding_transcript_exon_variant,,ENST00000466584,;	T	ENST00000395749	Transcript	synonymous_variant	1808/4447	1731/2001	577/666	V	gtT/gtA		1		-1	CAMK2B	HGNC	HGNC:1461	protein_coding	YES	CCDS5483.1	ENSP00000379098	Q13554	A4D2J9	UPI0000164A3E	NM_001220.4			22/24		hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF107,Gene3D:3.10.450.50,Pfam_domain:PF08332,Superfamily_domains:SSF54427																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	41	44220653	44220653	A	T	1	0	0	0	0	0	0	0	1	2291	117	5	4		4	CAMK2B	7	44220653	Silent	SNP	A	C3N-00199_TP	12523546	44220653	115125320	139	11802											
ZPBP	0	.	GRCh38	chr7	49983465	49983465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggtaattgttctgcacGtctgccaagaatttctactt	9	16	8	8	1	3	2	0	1	3	1	3	2	3	2	1	1	3	3	1	1	4	7	rs778999986		C3N-00199_TP	C3N-00199_NB	G	G																c.838C>T	p.Arg280Cys	p.R280C	ENST00000046087	7/8	130	123	7	256	256	0	strelka-mutect	ZPBP,missense_variant,p.Arg280Cys,ENST00000046087,NM_007009.2;ZPBP,missense_variant,p.Arg279Cys,ENST00000419417,NM_001159878.1;ZPBP,non_coding_transcript_exon_variant,,ENST00000491129,;	A	ENST00000046087	Transcript	missense_variant	908/1213	838/1056	280/351	R/C	Cgt/Tgt	rs778999986,COSM1313157	1		-1	ZPBP	HGNC	HGNC:15662	protein_coding	YES	CCDS5509.1	ENSP00000046087	Q9BS86		UPI0000073BD0	NM_007009.2	tolerated(0.05)		7/8		Pfam_domain:PF07354,hmmpanther:PTHR15443,hmmpanther:PTHR15443:SF5											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs778999986	.												A	3	1	41	49983465	49983465	G	A	1	0	0	0	0	1	0	0	0	18811	1145	40	1		1	ZPBP	7	49983465	Missense_Mutation	SNP	G	C3N-00199_TP	5762812	49983465	109362508	140	11803											
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcacagattttgggcTggccaaactgctgggtgcgg	9	9	14	9	1	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	2	2	rs121434568		C3N-00199_TP	C3N-00199_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	872	405	467	537	537	0	strelka-varscan-mutect	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		rs121434568	.												G	3	3	41	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3N-00199_TP	5208357	55191822	104154151	141	11804											
SEPT14	0	.	GRCh38	chr7	55834442	55834442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacactaactgaggagttcgCttgagcagcagtttcttcat	10	13	9	9	1	2	2	1	2	1	0	3	3	2	3	0	1	4	5	0	1	2	6	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.703G>A	p.Ala235Thr	p.A235T	ENST00000388975	6/10	74	58	16	94	94	0	varscan-mutect	SEPT14,missense_variant,p.Ala235Thr,ENST00000388975,NM_207366.2;	T	ENST00000388975	Transcript	missense_variant	820/3785	703/1299	235/432	A/T	Gcg/Acg		1		-1	SEPT14	HGNC	HGNC:33280	protein_coding	YES	CCDS5519.2	ENSP00000373627	Q6ZU15		UPI0000E0AB69	NM_207366.2	tolerated(0.2)		6/10		PROSITE_profiles:PS51719,hmmpanther:PTHR18884:SF51,hmmpanther:PTHR18884,Pfam_domain:PF00735,PIRSF_domain:PIRSF006698,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	41	55834442	55834442	C	T	1	0	0	0	0	1	0	0	0	14339	797	28	3		3	SEPT14	7	55834442	Missense_Mutation	SNP	C	C3N-00199_TP	642620	55834442	103511531	142	11805											
SLC25A13	0	.	GRCh38	chr7	96234903	96234903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaaaggcaacaaattctTgaaaagatattaatctgcaa	19	11	5	6	0	3	2	1	1	2	1	3	2	3	2	0	1	2	2	0	1	8	5	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.227A>G	p.Gln76Arg	p.Q76R	ENST00000416240	4/18	97	80	17	270	270	0	strelka-varscan-mutect	SLC25A13,missense_variant,p.Gln76Arg,ENST00000416240,NM_001160210.1;SLC25A13,missense_variant,p.Gln76Arg,ENST00000265631,NM_014251.2;SLC25A13,intron_variant,,ENST00000472162,;	C	ENST00000416240	Transcript	missense_variant	418/3192	227/2031	76/676	Q/R	cAa/cGa		1		-1	SLC25A13	HGNC	HGNC:10983	protein_coding	YES	CCDS55130.1	ENSP00000400101	Q9UJS0		UPI0000001663	NM_001160210.1	tolerated(0.35)		4/18		Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	41	96234903	96234903	T	C	1	0	0	0	0	1	0	0	0	14740	1812	63	5		5	SLC25A13	7	96234903	Missense_Mutation	SNP	T	C3N-00199_TP	40400461	96234903	63111070	143	11806											
RELN	0	.	GRCh38	chr7	103511005	103511005	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatagccagtgctcattcActtaaaacaaaaaaacaaaa	21	7	5	8	0	2	0	2	0	0	0	2	1	2	1	1	1	4	1	1	1	9	3	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.8120T>A	p.Val2707Glu	p.V2707E	ENST00000428762	51/65	194	164	30	321	321	0	strelka-varscan-mutect	RELN,missense_variant,p.Val2707Glu,ENST00000424685,;RELN,missense_variant,p.Val2707Glu,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Val2707Glu,ENST00000343529,NM_173054.2;CTB-107G13.1,intron_variant,,ENST00000422488,;	T	ENST00000428762	Transcript	missense_variant,splice_region_variant	8280/11571	8120/10383	2707/3460	V/E	gTg/gAg		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3	deleterious(0.01)		51/65		hmmpanther:PTHR11841																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	41	103511005	103511005	A	T	1	0	0	0	0	1	0	0	0	13390	173	6	4		4	RELN	7	103511005	Missense_Mutation	SNP	A	C3N-00199_TP	7276102	103511005	55834968	144	11807											
RELN	0	.	GRCh38	chr7	103551067	103551067	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcaagcagcgggtccttacCcacaaaggtgcagcttccca	10	7	10	14	1	1	0	1	0	0	0	3	0	3	0	3	2	5	3	3	2	3	2	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.6302G>T	p.Gly2101Val	p.G2101V	ENST00000428762	41/65	572	446	126	693	692	1	strelka-varscan-mutect	RELN,missense_variant,p.Gly2101Val,ENST00000424685,;RELN,missense_variant,p.Gly2101Val,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Gly2101Val,ENST00000343529,NM_173054.2;	A	ENST00000428762	Transcript	missense_variant,splice_region_variant	6462/11571	6302/10383	2101/3460	G/V	gGa/gTa		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3	deleterious(0)		41/65		hmmpanther:PTHR11841																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	41	103551067	103551067	C	A	1	0	0	0	0	1	0	0	0	13390	637	22	2		2	RELN	7	103551067	Missense_Mutation	SNP	C	C3N-00199_TP	40062	103551067	55794906	145	11808											
RELN	0	.	GRCh38	chr7	103572219	103572219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggtttgatgcaggtaatgCctgaagttttgcttccaatt	8	17	10	6	0	0	2	0	2	0	0	1	2	1	2	2	2	3	5	2	2	3	7	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.4553G>T	p.Gly1518Val	p.G1518V	ENST00000428762	31/65	127	108	19	392	391	1	strelka-varscan-mutect	RELN,missense_variant,p.Gly1518Val,ENST00000424685,;RELN,missense_variant,p.Gly1518Val,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Gly1518Val,ENST00000343529,NM_173054.2;	A	ENST00000428762	Transcript	missense_variant	4713/11571	4553/10383	1518/3460	G/V	gGc/gTc		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3	deleterious(0.05)		31/65		hmmpanther:PTHR11841																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	41	103572219	103572219	C	A	1	0	0	0	0	1	0	0	0	13390	739	26	2		2	RELN	7	103572219	Missense_Mutation	SNP	C	C3N-00199_TP	21152	103572219	55773754	146	11809											
COG5	0	.	GRCh38	chr7	107548164	107548164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcttattgtatggttcaaCaatttttgcttttatcctac	9	21	4	7	0	2	0	1	0	1	0	3	0	3	0	1	1	3	3	1	1	7	10	rs759063795		C3N-00199_TP	C3N-00199_NB	C	C																c.457G>T	p.Val153Phe	p.V153F	ENST00000297135	5/22	122	104	18	441	440	1	strelka-varscan-mutect	COG5,missense_variant,p.Val153Phe,ENST00000393603,NM_001161520.1;COG5,missense_variant,p.Val153Phe,ENST00000347053,NM_181733.2;COG5,missense_variant,p.Val153Phe,ENST00000297135,NM_006348.3;COG5,missense_variant,p.Val122Phe,ENST00000605888,;COG5,non_coding_transcript_exon_variant,,ENST00000475638,;COG5,non_coding_transcript_exon_variant,,ENST00000469503,;	A	ENST00000297135	Transcript	missense_variant	982/4060	457/2583	153/860	V/F	Gtt/Ttt	rs759063795	1		-1	COG5	HGNC	HGNC:14857	protein_coding	YES	CCDS5742.1	ENSP00000297135	Q9UP83		UPI0000246D05	NM_006348.3	tolerated(0.05)		5/22		Pfam_domain:PF10392,hmmpanther:PTHR13228,hmmpanther:PTHR13228:SF3																	MODERATE	1	SNV	1			1										PASS		rs759063795	.												A	3	1	41	107548164	107548164	C	A	1	0	0	0	0	1	0	0	0	3449	478	17	2		2	COG5	7	107548164	Missense_Mutation	SNP	C	C3N-00199_TP	3975945	107548164	51797809	147	11810											
FLNC	0	.	GRCh38	chr7	128855225	128855225	+	Frame_Shift_Del	DEL	A	A	-																															atgaggtctccatcaagttcAatgatgagcacatcccagac																								novel		C3N-00199_TP	C3N-00199_NB	A	A																c.7163delA	p.Asn2388MetfsTer36	p.N2388Mfs*36	ENST00000325888	43/48	385	361	24	383	383	0	varindel-pindel	FLNC,frameshift_variant,p.Asn2388MetfsTer36,ENST00000325888,NM_001458.4;FLNC,frameshift_variant,p.Asn2355MetfsTer36,ENST00000346177,NM_001127487.1;RP11-309L24.2,intron_variant,,ENST00000469965,;	-	ENST00000325888	Transcript	frameshift_variant	7423/9188	7162/8178	2388/2725	N/X	Aat/at		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4			43/48		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	41	128855225	128855225	A	-	1	0	1	0	1	0	0	0	0	5791	130	5	0		0	FLNC	7	128855225	Frame_Shift_Del	DEL	A	C3N-00199_TP	21307061	128855225	30490748	148	11811											
TRPV5	0	.	GRCh38	chr7	142914960	142914960	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcaccagcccagcaccAgggcaaaggacatgggcacc	12	2	11	16	0	0	0	0	0	0	0	0	1	0	1	4	3	3	4	4	3	1	0	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.1373T>C	p.Leu458Pro	p.L458P	ENST00000265310	11/15	201	171	30	223	223	0	strelka-varscan-mutect	TRPV5,missense_variant,p.Leu458Pro,ENST00000265310,NM_019841.6;TRPV5,missense_variant,p.Leu403Pro,ENST00000439304,;	G	ENST00000265310	Transcript	missense_variant	1722/2952	1373/2190	458/729	L/P	cTg/cCg		1		-1	TRPV5	HGNC	HGNC:3145	protein_coding	YES	CCDS5875.1	ENSP00000265310		A0A0A6YY98	UPI0004620D64	NM_019841.6	deleterious(0)		11/15		Pfam_domain:PF00520,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF11,TIGRFAM_domain:TIGR00870,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	41	142914960	142914960	A	G	1	0	0	0	0	1	0	0	0	17105	188	7	5		5	TRPV5	7	142914960	Missense_Mutation	SNP	A	C3N-00199_TP	14059735	142914960	16431013	149	11812											
CTAGE15	0	.	GRCh38	chr7	143573050	143573050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaaattaccgaatagaGgaagaagagaagctttctag	18	7	12	4	1	1	3	0	0	1	3	1	8	1	5	1	2	2	1	1	2	9	4	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1233G>A	p.=	p.E411E	ENST00000420911	1/1	192	157	35	538	538	0	strelka-varscan-mutect	CTAGE15,synonymous_variant,p.=,ENST00000420911,NM_001008747.2;RNU6-162P,upstream_gene_variant,,ENST00000516228,;	A	ENST00000420911	Transcript	synonymous_variant	1250/2587	1233/2334	411/777	E	gaG/gaA		1		1	CTAGE15	HGNC	HGNC:37295	protein_coding	YES	CCDS64788.1	ENSP00000474204	A4D2H0		UPI0000199821	NM_001008747.2			1/1		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF39,Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		.	.												A	2	1	41	143573050	143573050	G	A	1	0	0	0	0	0	0	0	1	3797	991	35	3		3	CTAGE15	7	143573050	Silent	SNP	G	C3N-00199_TP	658090	143573050	15772923	150	11813											
TPK1	0	.	GRCh38	chr7	144682909	144682909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactaaaagaaagcatacCtttctctctctccttcggtg	10	14	6	11	1	2	2	0	1	2	1	6	2	3	2	2	1	2	1	2	1	4	5	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.185G>T	p.Ser62Ile	p.S62I	ENST00000360057	4/9	75	60	15	147	146	1	strelka-varscan-mutect	TPK1,missense_variant,p.Ser62Ile,ENST00000360057,NM_022445.3;TPK1,missense_variant,p.Ser62Ile,ENST00000378099,NM_001042482.1;TPK1,missense_variant,p.Ala17Ser,ENST00000538212,;TPK1,missense_variant,p.Ser62Ile,ENST00000552881,;TPK1,splice_region_variant,,ENST00000546806,;TPK1,missense_variant,p.Asp17Tyr,ENST00000482940,;TPK1,missense_variant,p.Ser62Ile,ENST00000378098,;TPK1,missense_variant,p.Ala17Ser,ENST00000489798,;TPK1,splice_region_variant,,ENST00000481645,;	A	ENST00000360057	Transcript	missense_variant,splice_region_variant	288/2439	185/732	62/243	S/I	aGc/aTc		1		-1	TPK1	HGNC	HGNC:17358	protein_coding	YES	CCDS5888.1	ENSP00000353165	Q9H3S4	A0A090N8Y0	UPI000004FD50	NM_022445.3	deleterious(0.02)		4/9		hmmpanther:PTHR13622,Pfam_domain:PF04263,PIRSF_domain:PIRSF031057,TIGRFAM_domain:TIGR01378,Gene3D:3.40.50.10240,Superfamily_domains:SSF63999																	MODERATE	1	SNV	1			1										PASS		rs757877655	.												A	3	1	41	144682909	144682909	C	A	1	0	0	0	0	1	0	0	0	16885	695	24	2		2	TPK1	7	144682909	Missense_Mutation	SNP	C	C3N-00199_TP	1109859	144682909	14663064	151	11814											
SSPO	0	.	GRCh38	chr7	149776410	149776410	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaccccgtcaggaggacCtggtaccctgtgccagcctc	6	7	12	16	1	1	0	1	0	0	0	2	2	1	2	6	4	3	2	6	4	1	1	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.115C>T	p.=	p.L39L	ENST00000378016	2/107	220	193	27	212	212	0	strelka-varscan-mutect	SSPO,synonymous_variant,p.=,ENST00000378016,NM_198455.2;ZNF467,upstream_gene_variant,,ENST00000302017,NM_207336.1;ZNF467,upstream_gene_variant,,ENST00000484747,;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,upstream_gene_variant,,ENST00000486824,;	T	ENST00000378016	Transcript	synonymous_variant	115/15589	115/15453	39/5150	L	Ctg/Ttg		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2			2/107		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF294																	LOW		SNV	5			1										PASS		.	.												T	2	4	41	149776410	149776410	C	T	1	0	0	0	0	0	0	0	1	15566	680	24	3		3	SSPO	7	149776410	Silent	SNP	C	C3N-00199_TP	5093501	149776410	9569563	152	11815											
SSPO	0	.	GRCh38	chr7	149779049	149779049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacttcatggagccaggcgGagggctggccatgttagcag	8	8	16	9	1	1	1	1	1	0	0	1	3	1	3	2	5	2	3	2	5	1	2	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1016G>T	p.Gly339Val	p.G339V	ENST00000378016	8/107	63	43	20	83	83	0	strelka-varscan-mutect	SSPO,missense_variant,p.Gly339Val,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,intron_variant,,ENST00000486824,;SSPO,upstream_gene_variant,,ENST00000493502,;	T	ENST00000378016	Transcript	missense_variant	1016/15589	1016/15453	339/5150	G/V	gGa/gTa		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2	deleterious(0)		8/107		Pfam_domain:PF00094,SMART_domains:SM00216,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF294																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	41	149779049	149779049	G	T	1	0	0	0	0	1	0	0	0	15566	1174	41	2		2	SSPO	7	149779049	Missense_Mutation	SNP	G	C3N-00199_TP	2639	149779049	9566924	153	11816											
KCNH2	0	.	GRCh38	chr7	150945450	150945450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtagggagaggcgtcgtgtgGggccttcttggggaagctct	5	10	19	7	2	2	1	0	0	2	1	3	3	2	2	1	6	1	2	1	6	2	3	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.3395C>G	p.Pro1132Arg	p.P1132R	ENST00000262186	15/15	178	134	44	166	166	0	strelka-varscan-mutect	KCNH2,missense_variant,p.Pro1132Arg,ENST00000262186,NM_000238.3;KCNH2,missense_variant,p.Pro792Arg,ENST00000330883,NM_172057.2;KCNH2,downstream_gene_variant,,ENST00000430723,NM_172056.2;KCNH2,downstream_gene_variant,,ENST00000532957,;KCNH2,downstream_gene_variant,,ENST00000473610,;KCNH2,downstream_gene_variant,,ENST00000461280,;	C	ENST00000262186	Transcript	missense_variant	3797/4286	3395/3480	1132/1159	P/R	cCc/cGc		1		-1	KCNH2	HGNC	HGNC:6251	protein_coding	YES	CCDS5910.1	ENSP00000262186	Q12809	A0A090N8Q0	UPI0000062255	NM_000238.3	deleterious_low_confidence(0.02)		15/15		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF506																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	41	150945450	150945450	G	C	1	0	0	0	0	1	0	0	0	7948	1232	43	4		4	KCNH2	7	150945450	Missense_Mutation	SNP	G	C3N-00199_TP	1166401	150945450	8400523	154	11817											
GALNTL5	0	.	GRCh38	chr7	151983019	151983019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattacccagcccgcctcccGactgccagcattgtcatttg	7	10	7	17	2	1	0	1	0	0	0	2	1	2	0	5	0	4	1	5	0	1	3	rs766808347		C3N-00199_TP	C3N-00199_NB	G	G																c.402G>A	p.=	p.P134P	ENST00000616416	5/10	306	285	21	422	422	0	strelka-varscan-mutect	GALNTL5,synonymous_variant,p.=,ENST00000616416,;GALNTL5,synonymous_variant,p.=,ENST00000392800,NM_145292.3;GALNTL5,synonymous_variant,p.=,ENST00000431418,;GALNTL5,non_coding_transcript_exon_variant,,ENST00000468278,;GALNTL5,3_prime_UTR_variant,,ENST00000416269,;GALNTL5,3_prime_UTR_variant,,ENST00000414073,;GALNTL5,3_prime_UTR_variant,,ENST00000426341,;GALNTL5,intron_variant,,ENST00000448366,;GALNTL5,intron_variant,,ENST00000416062,;	A	ENST00000616416	Transcript	synonymous_variant	708/1763	402/1332	134/443	P	ccG/ccA	rs766808347,COSM366683	1		1	GALNTL5	HGNC	HGNC:21725	protein_coding	YES	CCDS5929.1	ENSP00000479207	Q7Z4T8		UPI000013C82E				5/10		hmmpanther:PTHR11675:SF17,hmmpanther:PTHR11675,Superfamily_domains:SSF53448											0,1						LOW	1	SNV	5		0,1	1										PASS		rs766808347	.												A	2	1	41	151983019	151983019	G	A	1	0	0	0	0	0	0	0	1	6092	1045	37	1		1	GALNTL5	7	151983019	Silent	SNP	G	C3N-00199_TP	1037569	151983019	7362954	155	11818											
WRN	0	.	GRCh38	chr8	31141447	31141447	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaattctcagcgtcttgcCgatcaatatcgcaggcacag	11	9	9	12	3	3	1	2	0	2	1	5	2	3	1	1	1	2	2	1	1	3	3	rs150095039		C3N-00199_TP	C3N-00199_NB	C	C																c.2985C>A	p.=	p.A995A	ENST00000298139	25/35	166	157	9	436	434	2	strelka-varscan-mutect	WRN,synonymous_variant,p.=,ENST00000298139,NM_000553.4;WRN,non_coding_transcript_exon_variant,,ENST00000521620,;	A	ENST00000298139	Transcript	synonymous_variant	3234/5215	2985/4299	995/1432	A	gcC/gcA	rs150095039	1		1	WRN	HGNC	HGNC:12791	protein_coding	YES	CCDS6082.1	ENSP00000298139	Q14191		UPI000013E49D	NM_000553.4			25/35		hmmpanther:PTHR13710:SF87,hmmpanther:PTHR13710,Gene3D:1.10.10.10,TIGRFAM_domain:TIGR00614,Pfam_domain:PF09382,SMART_domains:SM00956,Superfamily_domains:SSF46785																	LOW	1	SNV	1			1										PASS		rs150095039	.												A	2	1	41	31141447	31141447	C	A	1	0	0	0	0	0	0	0	1	17959	639	23	1		1	WRN	8	31141447	Silent	SNP	C	C3N-00199_TP		31141447	113997189	156	11819											
MMP16	0	.	GRCh38	chr8	88116529	88116529	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaacaaacatctcacgaCgaagaatagctagagtgtta	18	8	8	7	2	1	3	1	1	1	2	2	5	1	3	0	0	3	2	0	0	8	3	rs138174209		C3N-00199_TP	C3N-00199_NB	C	C																c.1061G>C	p.Arg354Pro	p.R354P	ENST00000286614	6/10	133	95	38	176	176	0	strelka-varscan-mutect	MMP16,missense_variant,p.Arg354Pro,ENST00000286614,NM_005941.4;MMP16,non_coding_transcript_exon_variant,,ENST00000544227,;	G	ENST00000286614	Transcript	missense_variant	1343/11558	1061/1824	354/607	R/P	cGt/cCt	rs138174209,COSM1569518,COSM3738387	1		-1	MMP16	HGNC	HGNC:7162	protein_coding	YES	CCDS6246.1	ENSP00000286614	P51512		UPI000003DC73	NM_005941.4	deleterious(0)		6/10		PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF26,Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,SMART_domains:SM00120,Superfamily_domains:SSF50923											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs138174209	.												G	3	3	41	88116529	88116529	C	G	1	0	0	0	0	1	0	0	0	9618	536	19	4		4	MMP16	8	88116529	Missense_Mutation	SNP	C	C3N-00199_TP	56975082	88116529	57022107	157	11820											
KCNS2	0	.	GRCh38	chr8	98428595	98428595	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatcatcaccatgtgcCtcaatagcctgcccgatttc	8	11	7	15	1	3	0	3	0	0	0	5	1	4	0	5	1	3	0	5	1	2	2	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.616C>A	p.Leu206Ile	p.L206I	ENST00000287042	2/2	391	280	111	410	410	0	strelka-varscan-mutect	KCNS2,missense_variant,p.Leu206Ile,ENST00000287042,NM_020697.2;KCNS2,missense_variant,p.Leu206Ile,ENST00000521839,;STK3,intron_variant,,ENST00000517832,;	A	ENST00000287042	Transcript	missense_variant	966/5219	616/1434	206/477	L/I	Ctc/Atc		1		1	KCNS2	HGNC	HGNC:6301	protein_coding	YES	CCDS6279.1	ENSP00000287042	Q9ULS6		UPI0000001653	NM_020697.2	tolerated(0.78)		2/2		Gene3D:1.20.120.350,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF60,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	98428595	98428595	C	A	1	0	0	0	0	1	0	0	0	8005	681	24	2		2	KCNS2	8	98428595	Missense_Mutation	SNP	C	C3N-00199_TP	10312066	98428595	46710041	158	11821											
ADCK5	0	.	GRCh38	chr8	144391810	144391810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactgccgacttctgcgccGgctgcaaggtcaacgatgtg	7	9	12	13	4	3	0	2	0	1	0	3	2	3	0	2	2	4	2	2	2	2	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.958G>T	p.Gly320Cys	p.G320C	ENST00000308860	9/15	326	216	110	321	321	0	strelka-varscan-mutect	ADCK5,missense_variant,p.Gly320Cys,ENST00000308860,NM_174922.4;CPSF1,downstream_gene_variant,,ENST00000616140,NM_013291.2;CPSF1,downstream_gene_variant,,ENST00000620219,;CPSF1,downstream_gene_variant,,ENST00000531727,;CPSF1,downstream_gene_variant,,ENST00000532935,;CPSF1,downstream_gene_variant,,ENST00000401314,;ADCK5,downstream_gene_variant,,ENST00000526231,;ADCK5,downstream_gene_variant,,ENST00000534714,;ADCK5,3_prime_UTR_variant,,ENST00000529654,;ADCK5,downstream_gene_variant,,ENST00000533715,;CPSF1,downstream_gene_variant,,ENST00000531480,;CPSF1,downstream_gene_variant,,ENST00000526271,;ADCK5,downstream_gene_variant,,ENST00000526833,;CPSF1,downstream_gene_variant,,ENST00000527827,;CPSF1,downstream_gene_variant,,ENST00000532725,;ADCK5,downstream_gene_variant,,ENST00000532190,;CPSF1,downstream_gene_variant,,ENST00000529288,;CPSF1,downstream_gene_variant,,ENST00000531042,;	T	ENST00000308860	Transcript	missense_variant	1002/1949	958/1743	320/580	G/C	Ggc/Tgc		1		1	ADCK5	HGNC	HGNC:21738	protein_coding	YES	CCDS34965.2	ENSP00000310547	Q3MIX3		UPI00005B7249	NM_174922.4	deleterious(0)		9/15		hmmpanther:PTHR10566,hmmpanther:PTHR10566:SF59,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs1337257231	.												T	3	4	41	144391810	144391810	G	T	1	0	0	0	0	1	0	0	0	335	1116	39	1		1	ADCK5	8	144391810	Missense_Mutation	SNP	G	C3N-00199_TP	45963215	144391810	746826	159	11822											
FREM1	0	.	GRCh38	chr9	14775976	14775976	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtagccctgtcccccacAggtagagctggccatgctgg	8	7	13	13	0	0	1	0	0	0	1	1	2	1	1	4	3	3	4	4	3	3	2	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.4670T>A	p.Leu1557Gln	p.L1557Q	ENST00000422223	26/38	490	226	264	351	351	0	strelka-varscan-mutect	FREM1,missense_variant,p.Leu1557Gln,ENST00000422223,NM_144966.5;FREM1,missense_variant,p.Leu1557Gln,ENST00000380880,;FREM1,missense_variant,p.Leu93Gln,ENST00000380894,NM_001177704.1;FREM1,non_coding_transcript_exon_variant,,ENST00000466679,;FREM1,non_coding_transcript_exon_variant,,ENST00000485068,;FREM1,upstream_gene_variant,,ENST00000486223,;FREM1,intron_variant,,ENST00000380875,;FREM1,upstream_gene_variant,,ENST00000427623,;	T	ENST00000422223	Transcript	missense_variant	5486/10086	4670/6540	1557/2179	L/Q	cTg/cAg		1		-1	FREM1	HGNC	HGNC:23399	protein_coding	YES	CCDS47952.1	ENSP00000412940	Q5H8C1		UPI000057A218	NM_144966.5	deleterious(0.02)		26/38		Pfam_domain:PF16184,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF24																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	41	14775976	14775976	A	T	1	0	0	0	0	1	0	0	0	5911	188	7	4		4	FREM1	9	14775976	Missense_Mutation	SNP	A	C3N-00199_TP		14775976	123618741	160	11823											
DENND4C	0	.	GRCh38	chr9	19342743	19342743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtattgtgaaagttccgtctGgtatatttgatgtcaacagc	10	15	10	6	1	2	2	1	2	1	0	3	2	3	2	1	1	2	3	1	1	5	6	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.2968G>T	p.Gly990Cys	p.G990C	ENST00000602925	21/32	98	50	48	208	208	0	strelka-varscan-mutect	DENND4C,missense_variant,p.Gly990Cys,ENST00000602925,NM_017925.6;DENND4C,missense_variant,p.Gly1039Cys,ENST00000434457,;DENND4C,missense_variant,p.Gly26Cys,ENST00000380427,;DENND4C,upstream_gene_variant,,ENST00000361024,;DENND4C,upstream_gene_variant,,ENST00000380424,;DENND4C,3_prime_UTR_variant,,ENST00000494124,;DENND4C,non_coding_transcript_exon_variant,,ENST00000380437,;DENND4C,downstream_gene_variant,,ENST00000602442,;	T	ENST00000602925	Transcript	missense_variant	3384/6831	2968/5730	990/1909	G/C	Ggt/Tgt		1		1	DENND4C	HGNC	HGNC:26079	protein_coding	YES	CCDS6491.3	ENSP00000473565		R4GNB2	UPI0000EE421F	NM_017925.6	deleterious(0.03)		21/32																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	41	19342743	19342743	G	T	1	0	0	0	0	1	0	0	0	4239	1348	47	2		2	DENND4C	9	19342743	Missense_Mutation	SNP	G	C3N-00199_TP	4566767	19342743	119051974	161	11824											
IFNA6	0	.	GRCh38	chr9	21350704	21350704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccatcaaactcctcctgggGaaatctgaagtcatgtctgt	10	11	9	11	0	4	1	2	1	2	0	6	2	6	2	3	2	1	0	3	2	3	0			C3N-00199_TP	C3N-00199_NB	G	G																c.184C>T	p.Pro62Ser	p.P62S	ENST00000380210	1/1	216	204	12	233	233	0	strelka-varscan-mutect	IFNA6,missense_variant,p.Pro62Ser,ENST00000380210,NM_021002.2;IFNA6,missense_variant,p.Pro63Ser,ENST00000259555,;	A	ENST00000380210	Transcript	missense_variant	675/1544	184/570	62/189	P/S	Ccc/Tcc	COSM3656590	1		-1	IFNA6	HGNC	HGNC:5427	protein_coding	YES	CCDS6504.1	ENSP00000369558	P05013		UPI000004775F	NM_021002.2	deleterious(0.02)		1/1		hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF27,Gene3D:1.20.1250.10,Pfam_domain:PF00143,SMART_domains:SM00076,Superfamily_domains:SSF47266,Prints_domain:PR00266											1						MODERATE	1	SNV			1	1										PASS		rs1181102432	.												A	3	1	41	21350704	21350704	G	A	1	0	0	0	0	1	0	0	0	7441	1174	41	3		3	IFNA6	9	21350704	Missense_Mutation	SNP	G	C3N-00199_TP	2007961	21350704	117044013	162	11825											
LINGO2	0	.	GRCh38	chr9	27950063	27950063	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcagatgcaggctgatGaggctgcggaggtgggagag	8	8	19	6	1	1	4	1	2	0	2	1	6	1	5	0	5	3	4	0	5	0	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.609C>A	p.=	p.L203L	ENST00000379992	6/6	151	71	80	214	214	0	strelka-varscan-mutect	LINGO2,synonymous_variant,p.=,ENST00000379992,NM_152570.2,NM_001258282.1;LINGO2,synonymous_variant,p.=,ENST00000308675,;LINGO2,synonymous_variant,p.=,ENST00000613945,;	T	ENST00000379992	Transcript	synonymous_variant	1059/3044	609/1821	203/606	L	ctC/ctA		1		-1	LINGO2	HGNC	HGNC:21207	protein_coding	YES	CCDS6524.1	ENSP00000369328	Q7L985		UPI000004C7CD	NM_152570.2,NM_001258282.1			6/6		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF38,Low_complexity_(Seg):seg,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	41	27950063	27950063	G	T	1	0	0	0	0	0	0	0	1	8736	1277	45	2		2	LINGO2	9	27950063	Silent	SNP	G	C3N-00199_TP	6599359	27950063	110444654	163	11826											
PRUNE2	0	.	GRCh38	chr9	76644886	76644886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagactctgactcttggcCagaatctttgttggctgtgg	8	14	11	8	0	3	3	0	1	3	2	3	3	3	3	1	3	0	2	1	3	3	4	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.8581G>T	p.Gly2861Cys	p.G2861C	ENST00000376718	12/19	69	62	7	115	115	0	strelka-varscan-mutect	PRUNE2,missense_variant,p.Gly2861Cys,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Gly2503Cys,ENST00000428286,;PRUNE2,missense_variant,p.Gly2861Cys,ENST00000443509,NM_001308047.1,NM_001308048.1;PRUNE2,missense_variant,p.Gly2183Cys,ENST00000426088,;PRUNE2,missense_variant,p.Gly126Cys,ENST00000376717,NM_001308050.1;PRUNE2,missense_variant,p.Gly96Cys,ENST00000223609,;PRUNE2,missense_variant,p.Gly31Cys,ENST00000424866,;PRUNE2,non_coding_transcript_exon_variant,,ENST00000466266,;PRUNE2,non_coding_transcript_exon_variant,,ENST00000488346,;PRUNE2,non_coding_transcript_exon_variant,,ENST00000494975,;	A	ENST00000376718	Transcript	missense_variant	8705/12584	8581/9267	2861/3088	G/C	Ggc/Tgc		1		-1	PRUNE2	HGNC	HGNC:25209	protein_coding	YES	CCDS47982.1	ENSP00000365908	Q8WUY3		UPI0001612CC0	NM_015225.2	deleterious(0)		12/19		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112,Pfam_domain:PF12496																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	41	76644886	76644886	C	A	1	0	0	0	0	1	0	0	0	12791	594	21	2		2	PRUNE2	9	76644886	Missense_Mutation	SNP	C	C3N-00199_TP	48694823	76644886	61749831	164	11827											
SVEP1	0	.	GRCh38	chr9	110407825	110407825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actcttcacaggtctgcatgGcatgaccagccacctgaaac	11	8	8	14	0	3	2	1	2	2	0	3	2	3	2	3	2	3	2	3	2	1	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.7775C>A	p.Ala2592Asp	p.A2592D	ENST00000374469	38/48	97	69	28	233	233	0	strelka-varscan-mutect	SVEP1,missense_variant,p.Ala2595Asp,ENST00000401783,;SVEP1,missense_variant,p.Ala2592Asp,ENST00000374469,NM_153366.3;	T	ENST00000374469	Transcript	missense_variant	7970/12194	7775/10716	2592/3571	A/D	gCc/gAc		1		-1	SVEP1	HGNC	HGNC:15985	protein_coding	YES	CCDS48004.1	ENSP00000363593	Q4LDE5		UPI000153DA74	NM_153366.3	tolerated(0.54)		38/48		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	41	110407825	110407825	G	T	1	0	0	0	0	1	0	0	0	15805	1203	42	2		2	SVEP1	9	110407825	Missense_Mutation	SNP	G	C3N-00199_TP	33762939	110407825	27986892	165	11828											
COL27A1	0	.	GRCh38	chr9	114252925	114252925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggacccctggagagcctgGaccccaggtaagcaaagccc	10	3	14	14	0	0	1	0	0	0	1	0	4	0	3	6	5	3	2	6	5	2	1			C3N-00199_TP	C3N-00199_NB	G	G																c.3134G>T	p.Gly1045Val	p.G1045V	ENST00000356083	27/61	108	101	7	126	126	0	strelka-varscan-mutect	COL27A1,missense_variant,p.Gly1045Val,ENST00000356083,NM_032888.3;COL27A1,3_prime_UTR_variant,,ENST00000494090,;	T	ENST00000356083	Transcript	missense_variant	3525/7790	3134/5583	1045/1860	G/V	gGa/gTa	COSM5201764	1		1	COL27A1	HGNC	HGNC:22986	protein_coding	YES	CCDS6802.1	ENSP00000348385	Q8IZC6		UPI0000062271	NM_032888.3			27/61		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF549,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	41	114252925	114252925	G	T	1	0	0	0	0	1	0	0	0	3474	1174	41	2		2	COL27A1	9	114252925	Missense_Mutation	SNP	G	C3N-00199_TP	3845100	114252925	24141792	166	11829											
HMCN2	0	.	GRCh38	chr9	130418896	130418896	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctacaggcgggtcaaccCttgcgggccagccggcggct	5	6	16	14	4	1	0	1	0	0	0	1	0	1	0	3	6	4	2	3	6	2	2	rs61743633		C3N-00199_TP	C3N-00199_NB	C	C																c.13026C>A	p.=	p.P4342P	ENST00000624552	86/98	95	63	32	89	89	0	strelka-varscan-mutect	HMCN2,synonymous_variant,p.=,ENST00000624552,NM_001291815.1;HMCN2,3_prime_UTR_variant,,ENST00000487727,;	A	ENST00000624552	Transcript	synonymous_variant	13026/15610	13026/15180	4342/5059	P	ccC/ccA	rs61743633	1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1			86/98		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		rs61743633	.												A	2	1	41	130418896	130418896	C	A	1	0	0	0	0	0	0	0	1	7112	668	24	2		2	HMCN2	9	130418896	Silent	SNP	C	C3N-00199_TP	16165971	130418896	7975821	167	11830											
RAPGEF1	0	.	GRCh38	chr9	131628047	131628047	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgactctccaccatatgagTggctgcctcctgacagtcgc	7	9	10	15	2	1	2	0	2	1	0	4	3	2	2	4	1	1	1	4	1	1	1	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.1070A>G	p.His357Arg	p.H357R	ENST00000372190	9/24	141	99	42	151	151	0	varscan-mutect	RAPGEF1,missense_variant,p.His356Arg,ENST00000372195,NM_001304275.1;RAPGEF1,missense_variant,p.His339Arg,ENST00000372189,NM_005312.3;RAPGEF1,missense_variant,p.His357Arg,ENST00000372190,NM_198679.1;RAPGEF1,upstream_gene_variant,,ENST00000419442,;RAPGEF1,non_coding_transcript_exon_variant,,ENST00000481260,;	C	ENST00000372190	Transcript	missense_variant	1108/6045	1070/3288	357/1095	H/R	cAc/cGc		1		-1	RAPGEF1	HGNC	HGNC:4568	protein_coding	YES	CCDS48048.1	ENSP00000361264	Q13905		UPI0000074689	NM_198679.1	tolerated_low_confidence(0.12)		9/24																			MODERATE	1	SNV	1			1										PASS		rs1165391734	.												C	3	2	41	131628047	131628047	T	C	1	0	0	0	0	1	0	0	0	13202	1696	59	5		5	RAPGEF1	9	131628047	Missense_Mutation	SNP	T	C3N-00199_TP	1209151	131628047	6766670	168	11831											
SEC16A	0	.	GRCh38	chr9	136474524	136474524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggttaggcgccccaggcCcagattgtctgggatgactg	8	8	14	11	1	1	2	0	1	1	1	1	3	1	3	3	4	0	1	3	4	2	2	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.3092G>T	p.Gly1031Val	p.G1031V	ENST00000313050	1/30	248	180	68	268	268	0	strelka-varscan-mutect	SEC16A,missense_variant,p.Gly1031Val,ENST00000290037,NM_001276418.1;SEC16A,missense_variant,p.Gly1031Val,ENST00000313050,NM_014866.1;SEC16A,missense_variant,p.Gly853Val,ENST00000371706,;SEC16A,missense_variant,p.Gly853Val,ENST00000431893,;	A	ENST00000313050	Transcript	missense_variant	3166/8806	3092/7074	1031/2357	G/V	gGg/gTg		1		-1	SEC16A	HGNC	HGNC:29006	protein_coding	YES	CCDS55351.1	ENSP00000325827		J3KNL6	UPI0000F0888B	NM_014866.1	deleterious(0.02)		1/30		hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	136474524	136474524	C	A	1	0	0	0	0	1	0	0	0	14263	623	22	2		2	SEC16A	9	136474524	Missense_Mutation	SNP	C	C3N-00199_TP	4846477	136474524	1920193	169	11832											
EHMT1	0	.	GRCh38	chr9	137814501	137814501	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcagcatgcgctgctggtAcgacaaggtgagggcggcct	7	7	16	11	3	1	1	1	1	0	0	1	2	1	1	1	4	4	5	1	4	2	1	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.3251A>T	p.Tyr1084Phe	p.Y1084F	ENST00000460843	22/27	570	517	53	525	525	0	strelka-varscan-mutect	EHMT1,missense_variant,p.Tyr1084Phe,ENST00000460843,NM_024757.4;EHMT1,missense_variant,p.Tyr1053Phe,ENST00000637161,;EHMT1,downstream_gene_variant,,ENST00000636027,;EHMT1,non_coding_transcript_exon_variant,,ENST00000488242,;EHMT1,non_coding_transcript_exon_variant,,ENST00000636163,;EHMT1,non_coding_transcript_exon_variant,,ENST00000637407,;EHMT1,upstream_gene_variant,,ENST00000635741,;EHMT1,upstream_gene_variant,,ENST00000635987,;EHMT1,upstream_gene_variant,,ENST00000636463,;EHMT1,upstream_gene_variant,,ENST00000636472,;EHMT1,upstream_gene_variant,,ENST00000636495,;EHMT1,upstream_gene_variant,,ENST00000636526,;EHMT1,upstream_gene_variant,,ENST00000637400,;EHMT1,upstream_gene_variant,,ENST00000637784,;EHMT1,upstream_gene_variant,,ENST00000637912,;EHMT1,upstream_gene_variant,,ENST00000638024,;EHMT1,missense_variant,p.Tyr703Phe,ENST00000462942,;EHMT1,3_prime_UTR_variant,,ENST00000637261,;EHMT1,3_prime_UTR_variant,,ENST00000637891,;EHMT1,non_coding_transcript_exon_variant,,ENST00000483653,;EHMT1,upstream_gene_variant,,ENST00000475564,;EHMT1,upstream_gene_variant,,ENST00000494249,;EHMT1,upstream_gene_variant,,ENST00000637748,;EHMT1,downstream_gene_variant,,ENST00000486164,;EHMT1,downstream_gene_variant,,ENST00000637949,;	T	ENST00000460843	Transcript	missense_variant	3317/5137	3251/3897	1084/1298	Y/F	tAc/tTc		1		1	EHMT1	HGNC	HGNC:24650	protein_coding	YES	CCDS7050.2	ENSP00000417980	Q9H9B1		UPI000194EC2D	NM_024757.4	deleterious(0)		22/27		Gene3D:2.170.270.10,Pfam_domain:PF05033,PROSITE_profiles:PS50867,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF364,SMART_domains:SM00468,Superfamily_domains:SSF82199																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	41	137814501	137814501	A	T	1	0	0	0	0	1	0	0	0	4819	391	14	4		4	EHMT1	9	137814501	Missense_Mutation	SNP	A	C3N-00199_TP	1339977	137814501	580216	170	11833											
ITIH5	0	.	GRCh38	chr10	7637475	7637475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaatatttcagtccccttCtctctgtcaggaaaaaggaa	12	12	7	10	0	4	1	2	1	2	0	6	3	5	3	2	2	0	0	2	2	5	3	rs749252937		C3N-00199_TP	C3N-00199_NB	C	C																c.405G>A	p.=	p.E135E	ENST00000397146	5/14	148	139	9	148	148	0	strelka-varscan-mutect	ITIH5,synonymous_variant,p.=,ENST00000397146,NM_030569.6;ITIH5,synonymous_variant,p.=,ENST00000397145,NM_001001851.2;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;	T	ENST00000397146	Transcript	synonymous_variant	484/6721	405/2829	135/942	E	gaG/gaA	rs749252937,COSM1255077,COSM3440638,COSM3440639	1		-1	ITIH5	HGNC	HGNC:21449	protein_coding	YES		ENSP00000380333		C9J2H1	UPI000014D02E	NM_030569.6			5/14		Low_complexity_(Seg):seg,PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF62,Pfam_domain:PF08487,SMART_domains:SM00609											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs749252937	.												T	2	4	41	7637475	7637475	C	T	1	0	0	0	0	0	0	0	1	7813	927	32	3		3	ITIH5	10	7637475	Silent	SNP	C	C3N-00199_TP		7637475	126159947	171	11834											
OLAH	0	.	GRCh38	chr10	15056935	15056935	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgtaggcgtgagccacCgtgcctggccaaaattcttg	8	8	11	14	3	1	1	0	1	1	0	1	1	1	1	6	2	2	1	6	2	3	3	rs770856312		C3N-00199_TP	C3N-00199_NB	C	C																c.275C>G	p.Pro92Arg	p.P92R	ENST00000378217	4/9	126	97	29	109	109	0	strelka-varscan-mutect	OLAH,missense_variant,p.Pro92Arg,ENST00000378217,NM_018324.2;OLAH,missense_variant,p.Pro92Arg,ENST00000413672,;OLAH,intron_variant,,ENST00000378228,NM_001039702.2;OLAH,intron_variant,,ENST00000378225,;OLAH,intron_variant,,ENST00000429028,;OLAH,intron_variant,,ENST00000428897,;OLAH,intron_variant,,ENST00000493912,;	G	ENST00000378217	Transcript	missense_variant	462/1767	275/957	92/318	P/R	cCg/cGg	rs770856312	1		1	OLAH	HGNC	HGNC:25625	protein_coding	YES	CCDS7106.1	ENSP00000367462	Q9NV23		UPI000007139E	NM_018324.2	tolerated_low_confidence(0.11)		4/9																			MODERATE	1	SNV	2			1										PASS		rs770856312	.												G	3	3	41	15056935	15056935	C	G	1	0	0	0	0	1	0	0	0	10926	652	23	4		4	OLAH	10	15056935	Missense_Mutation	SNP	C	C3N-00199_TP	7419460	15056935	118740487	172	11835											
CUBN	0	.	GRCh38	chr10	17100182	17100182	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcataaacctgaagaaactCgtgtggacagttgtccatgg	13	10	10	8	1	1	2	1	1	0	1	3	3	2	3	2	2	2	1	2	2	4	2	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1588G>T	p.Glu530Ter	p.E530*	ENST00000377833	14/67	141	78	63	439	439	0	strelka-varscan-mutect	CUBN,stop_gained,p.Glu530Ter,ENST00000377833,NM_001081.3;	A	ENST00000377833	Transcript	stop_gained	1654/11949	1588/10872	530/3623	E/*	Gag/Tag		1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3			14/67		PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854																	HIGH	1	SNV	1			1										PASS		rs1261796321	.												A	4	1	41	17100182	17100182	C	A	1	0	0	0	0	0	1	0	0	3861	893	31	1		1	CUBN	10	17100182	Nonsense_Mutation	SNP	C	C3N-00199_TP	2043247	17100182	116697240	173	11836											
ST8SIA6	0	.	GRCh38	chr10	17321245	17321245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactttgaaagaggtacccGtgttggccctgaaggaaaat	13	10	11	7	1	0	3	0	2	0	1	0	4	0	4	2	3	2	2	2	3	6	4	rs748029727		C3N-00199_TP	C3N-00199_NB	G	G																c.830C>A	p.Thr277Lys	p.T277K	ENST00000377602	8/8	104	96	8	273	273	0	strelka-varscan-mutect	ST8SIA6,missense_variant,p.Thr277Lys,ENST00000377602,NM_001004470.1;ST8SIA6,missense_variant,p.Thr98Lys,ENST00000440449,;	T	ENST00000377602	Transcript	missense_variant	905/2276	830/1197	277/398	T/K	aCg/aAg	rs748029727,COSM3397028,COSM3397029	1		-1	ST8SIA6	HGNC	HGNC:23317	protein_coding	YES	CCDS31158.1	ENSP00000366827	P61647		UPI0000359594	NM_001004470.1	deleterious(0)		8/8		hmmpanther:PTHR11987:SF29,hmmpanther:PTHR11987,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs748029727	.												T	3	4	41	17321245	17321245	G	T	1	0	0	0	0	1	0	0	0	15614	1145	40	1		1	ST8SIA6	10	17321245	Missense_Mutation	SNP	G	C3N-00199_TP	221063	17321245	116476177	174	11837											
GDF10	0	.	GRCh38	chr10	47310422	47310422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccgcgcgcccacgcaCagcacttccacaagcaccag	9	2	10	20	5	0	0	0	0	0	0	1	0	1	0	5	1	2	3	5	1	1	1	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.946C>A	p.Gln316Lys	p.Q316K	ENST00000580279	2/3	194	181	13	184	184	0	strelka-varscan-mutect	GDF10,missense_variant,p.Gln316Lys,ENST00000580279,NM_004962.3;	A	ENST00000580279	Transcript	missense_variant	1212/2458	946/1437	316/478	Q/K	Cag/Aag		1		1	GDF10	HGNC	HGNC:4215	protein_coding	YES	CCDS73117.1	ENSP00000464145	P55107		UPI0000126A13	NM_004962.3	tolerated(0.88)		2/3		PIRSF_domain:PIRSF037403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	47310422	47310422	C	A	1	0	0	0	0	1	0	0	0	6184	479	17	2		2	GDF10	10	47310422	Missense_Mutation	SNP	C	C3N-00199_TP	29989177	47310422	86487000	175	11838											
MBL2	0	.	GRCh38	chr10	52768314	52768314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacaaactgcccttctgtCttctcatcagtgatgcccag	8	12	6	15	0	4	1	2	1	3	0	6	1	5	1	3	0	3	0	3	0	1	2	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.570G>A	p.=	p.K190K	ENST00000373968	4/4	69	60	9	156	156	0	strelka-varscan-mutect	MBL2,synonymous_variant,p.=,ENST00000373968,NM_000242.2;	T	ENST00000373968	Transcript	synonymous_variant	635/3569	570/747	190/248	K	aaG/aaA		1		-1	MBL2	HGNC	HGNC:6922	protein_coding	YES	CCDS7247.1	ENSP00000363079	P11226		UPI0000035011	NM_000242.2			4/4		PROSITE_profiles:PS50041,hmmpanther:PTHR24020,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	LOW	1	SNV	1			1										PASS		rs1257704240	.												T	2	4	41	52768314	52768314	C	T	1	0	0	0	0	0	0	0	1	9282	912	32	3		3	MBL2	10	52768314	Silent	SNP	C	C3N-00199_TP	5457892	52768314	81029108	176	11839											
NRBF2	0	.	GRCh38	chr10	63153579	63153579	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcctcatccaagagagatgGaaaagggcccagcgtgaaga	14	5	12	10	1	1	4	1	1	0	3	3	6	3	5	3	2	1	0	3	2	4	0	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.225G>A	p.Trp75Ter	p.W75*	ENST00000277746	4/4	64	57	7	115	115	0	strelka-varscan-mutect	NRBF2,stop_gained,p.Trp75Ter,ENST00000277746,NM_030759.4;NRBF2,stop_gained,p.Trp65Ter,ENST00000435510,NM_001282405.1;	A	ENST00000277746	Transcript	stop_gained	406/1853	225/864	75/287	W/*	tgG/tgA		1		1	NRBF2	HGNC	HGNC:19692	protein_coding	YES	CCDS7268.1	ENSP00000277746	Q96F24		UPI000006D398	NM_030759.4			4/4		Superfamily_domains:0052258,Pfam_domain:PF17169,hmmpanther:PTHR14964,hmmpanther:PTHR14964:SF2																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	41	63153579	63153579	G	A	1	0	0	0	0	0	1	0	0	10697	1183	41	3		3	NRBF2	10	63153579	Nonsense_Mutation	SNP	G	C3N-00199_TP	10385265	63153579	70643843	177	11840											
ZSWIM8	0	.	GRCh38	chr10	73791083	73791083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagagggcgtctggaacctGctaagcattgtgcgggagat	9	8	15	9	2	1	2	0	0	1	2	1	4	1	3	2	3	4	2	2	3	2	2	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1050G>A	p.=	p.L350L	ENST00000398706	8/26	219	196	23	219	219	0	strelka-varscan-mutect	ZSWIM8,synonymous_variant,p.=,ENST00000604729,;ZSWIM8,synonymous_variant,p.=,ENST00000398706,NM_015037.3;ZSWIM8,synonymous_variant,p.=,ENST00000605216,NM_001242487.1;ZSWIM8,synonymous_variant,p.=,ENST00000603114,NM_001242488.1;ZSWIM8,synonymous_variant,p.=,ENST00000604524,;ZSWIM8,upstream_gene_variant,,ENST00000603187,;ZSWIM8,upstream_gene_variant,,ENST00000412198,;ZSWIM8,upstream_gene_variant,,ENST00000604754,;ZSWIM8,upstream_gene_variant,,ENST00000431225,;ZSWIM8,upstream_gene_variant,,ENST00000489234,;ZSWIM8,upstream_gene_variant,,ENST00000425051,;ZSWIM8,downstream_gene_variant,,ENST00000451629,;RP11-574K11.26,upstream_gene_variant,,ENST00000623633,;ZSWIM8,synonymous_variant,p.=,ENST00000433366,;ZSWIM8,upstream_gene_variant,,ENST00000492395,;ZSWIM8,downstream_gene_variant,,ENST00000446546,;	A	ENST00000398706	Transcript	synonymous_variant	1305/6062	1050/5529	350/1842	L	ctG/ctA		1		1	ZSWIM8	HGNC	HGNC:23528	protein_coding	YES	CCDS44440.1	ENSP00000381693	A7E2V4		UPI0000ED938E	NM_015037.3			8/26		hmmpanther:PTHR22619																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	41	73791083	73791083	G	A	1	0	0	0	0	0	0	0	1	18848	1306	46	3		3	ZSWIM8	10	73791083	Silent	SNP	G	C3N-00199_TP	10637504	73791083	60006339	178	11841			1	10		3	3	1021	G		4.185538e-05
ZSWIM8	0	.	GRCh38	chr10	73791153	73791153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgttggaaatcctcactGaccagtgcctcacctatgaa	10	11	7	13	0	2	2	2	2	0	0	3	3	3	3	5	1	1	1	5	1	3	3	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1120G>A	p.Asp374Asn	p.D374N	ENST00000398706	8/26	103	93	10	117	117	0	strelka-varscan-mutect	ZSWIM8,missense_variant,p.Asp374Asn,ENST00000604729,;ZSWIM8,missense_variant,p.Asp374Asn,ENST00000398706,NM_015037.3;ZSWIM8,missense_variant,p.Asp374Asn,ENST00000605216,NM_001242487.1;ZSWIM8,missense_variant,p.Asp374Asn,ENST00000603114,NM_001242488.1;ZSWIM8,missense_variant,p.Asp374Asn,ENST00000604524,;ZSWIM8,upstream_gene_variant,,ENST00000603187,;ZSWIM8,upstream_gene_variant,,ENST00000412198,;ZSWIM8,upstream_gene_variant,,ENST00000604754,;ZSWIM8,upstream_gene_variant,,ENST00000431225,;ZSWIM8,upstream_gene_variant,,ENST00000489234,;ZSWIM8,upstream_gene_variant,,ENST00000425051,;ZSWIM8,downstream_gene_variant,,ENST00000451629,;RP11-574K11.26,upstream_gene_variant,,ENST00000623633,;ZSWIM8,missense_variant,p.Asp374Asn,ENST00000433366,;ZSWIM8,upstream_gene_variant,,ENST00000492395,;ZSWIM8,downstream_gene_variant,,ENST00000446546,;	A	ENST00000398706	Transcript	missense_variant	1375/6062	1120/5529	374/1842	D/N	Gac/Aac		1		1	ZSWIM8	HGNC	HGNC:23528	protein_coding	YES	CCDS44440.1	ENSP00000381693	A7E2V4		UPI0000ED938E	NM_015037.3	deleterious(0)		8/26		hmmpanther:PTHR22619																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	41	73791153	73791153	G	A	1	0	0	0	0	1	0	0	0	18848	1290	45	3		3	ZSWIM8	10	73791153	Missense_Mutation	SNP	G	C3N-00199_TP	70	73791153	60006269	179	11842			1	10		3	3	1021	G		4.185538e-05
ZSWIM8	0	.	GRCh38	chr10	73792103	73792103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggtgcctcccgctctGggggcctggaggaatcccgg	4	6	17	14	2	1	0	0	0	1	0	3	2	3	2	5	7	1	1	5	7	1	0	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1564G>A	p.Gly522Arg	p.G522R	ENST00000398706	10/26	82	72	10	77	77	0	strelka-varscan-mutect	ZSWIM8,missense_variant,p.Gly522Arg,ENST00000604729,;ZSWIM8,missense_variant,p.Gly522Arg,ENST00000398706,NM_015037.3;ZSWIM8,missense_variant,p.Gly522Arg,ENST00000605216,NM_001242487.1;ZSWIM8,missense_variant,p.Gly522Arg,ENST00000603114,NM_001242488.1;ZSWIM8,missense_variant,p.Gly522Arg,ENST00000604524,;ZSWIM8,upstream_gene_variant,,ENST00000603187,;ZSWIM8,upstream_gene_variant,,ENST00000412198,;ZSWIM8,upstream_gene_variant,,ENST00000604754,;ZSWIM8-AS1,downstream_gene_variant,,ENST00000456638,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000431225,;ZSWIM8,upstream_gene_variant,,ENST00000489234,;ZSWIM8,upstream_gene_variant,,ENST00000425051,;ZSWIM8,upstream_gene_variant,,ENST00000487278,;ZSWIM8,downstream_gene_variant,,ENST00000451629,;RP11-574K11.26,downstream_gene_variant,,ENST00000623633,;ZSWIM8,missense_variant,p.Gly522Arg,ENST00000433366,;ZSWIM8,missense_variant,p.Gly141Arg,ENST00000492395,;RP11-574K11.31,downstream_gene_variant,,ENST00000603027,;	A	ENST00000398706	Transcript	missense_variant	1819/6062	1564/5529	522/1842	G/R	Ggg/Agg		1		1	ZSWIM8	HGNC	HGNC:23528	protein_coding	YES	CCDS44440.1	ENSP00000381693	A7E2V4		UPI0000ED938E	NM_015037.3	tolerated_low_confidence(0.3)		10/26		hmmpanther:PTHR22619																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	41	73792103	73792103	G	A	1	0	0	0	0	1	0	0	0	18848	1348	47	3		3	ZSWIM8	10	73792103	Missense_Mutation	SNP	G	C3N-00199_TP	950	73792103	60005319	180	11843			1	10		3	3	1021	G		4.185538e-05
ADK	0	.	GRCh38	chr10	74394260	74394260	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggatgctcattactacgaGcagaatgagcagccaacagg	13	7	12	9	1	1	2	1	1	0	1	1	4	1	3	1	2	7	3	1	2	4	2	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.393G>A	p.=	p.E131E	ENST00000286621	5/11	125	80	45	374	374	0	strelka-varscan-mutect	ADK,synonymous_variant,p.=,ENST00000541550,NM_001202449.1;ADK,synonymous_variant,p.=,ENST00000372734,NM_001123.3;ADK,synonymous_variant,p.=,ENST00000539909,NM_001202450.1;ADK,synonymous_variant,p.=,ENST00000286621,NM_006721.3;	A	ENST00000286621	Transcript	synonymous_variant	443/1169	393/1089	131/362	E	gaG/gaA		1		1	ADK	HGNC	HGNC:257	protein_coding	YES	CCDS7343.1	ENSP00000286621	P55263		UPI00001255EA	NM_006721.3			5/11		Gene3D:3.40.1190.20,Pfam_domain:PF00294,hmmpanther:PTHR10584,hmmpanther:PTHR10584:SF24,Superfamily_domains:SSF53613																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	41	74394260	74394260	G	A	1	0	0	0	0	0	0	0	1	394	962	34	3		3	ADK	10	74394260	Silent	SNP	G	C3N-00199_TP	602157	74394260	59403162	181	11844											
VWA2	0	.	GRCh38	chr10	114286328	114286328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actccgaggatgaggttgcgGgcccagcgcgtcacgcaagg	8	5	16	12	5	1	1	1	1	0	0	2	3	2	2	2	4	2	2	2	4	1	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1387G>T	p.Gly463Cys	p.G463C	ENST00000392982	11/14	79	65	14	97	97	0	strelka-varscan-mutect	VWA2,missense_variant,p.Gly463Cys,ENST00000392982,NM_001272046.1;VWA2,missense_variant,p.Gly159Cys,ENST00000603594,;VWA2,non_coding_transcript_exon_variant,,ENST00000298715,;	T	ENST00000392982	Transcript	missense_variant	1637/2794	1387/2268	463/755	G/C	Ggc/Tgc		1		1	VWA2	HGNC	HGNC:24709	protein_coding	YES	CCDS7589.2	ENSP00000376708	Q5GFL6		UPI00004C7AA3	NM_001272046.1	tolerated(0.12)		11/14		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF117,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	114286328	114286328	G	T	1	0	0	0	0	1	0	0	0	17793	1232	43	2		2	VWA2	10	114286328	Missense_Mutation	SNP	G	C3N-00199_TP	39892068	114286328	19511094	182	11845											
GFRA1	0	.	GRCh38	chr10	116093753	116093753	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatttcaagcactcttctaGgtcgttcccactgttgctgc	8	14	7	12	1	3	0	1	0	2	0	5	0	4	0	1	1	3	4	1	1	3	5	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.964C>T	p.=	p.L322L	ENST00000355422	8/11	217	197	20	450	450	0	strelka-varscan-mutect	GFRA1,synonymous_variant,p.=,ENST00000439649,NM_001145453.1;GFRA1,synonymous_variant,p.=,ENST00000369236,NM_145793.3;GFRA1,synonymous_variant,p.=,ENST00000355422,NM_005264.4;GFRA1,synonymous_variant,p.=,ENST00000369234,;	A	ENST00000355422	Transcript	synonymous_variant	1515/2583	964/1398	322/465	L	Cta/Tta		1		-1	GFRA1	HGNC	HGNC:4243	protein_coding	YES	CCDS44481.1	ENSP00000347591	P56159		UPI000012B3A8	NM_005264.4			8/11		hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF3,Pfam_domain:PF02351,PIRSF_domain:PIRSF038071,SMART_domains:SM00907,Superfamily_domains:0042655,Prints_domain:PR01316																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	41	116093753	116093753	G	A	1	0	0	0	0	0	0	0	1	6221	991	35	3		3	GFRA1	10	116093753	Silent	SNP	G	C3N-00199_TP	1807425	116093753	17703669	183	11846											
HSPA12A	0	.	GRCh38	chr10	116675330	116675330	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaaaagcagcctgcacCgcctgctgcagcaggggcgc	8	4	12	17	2	0	0	0	0	0	0	1	0	1	0	5	2	6	5	5	2	2	0	rs782001720		C3N-00199_TP	C3N-00199_NB	C	C																c.1479G>T	p.=	p.A493A	ENST00000369209	12/12	112	93	19	187	187	0	strelka-varscan-mutect	HSPA12A,synonymous_variant,p.=,ENST00000635765,;HSPA12A,synonymous_variant,p.=,ENST00000369209,NM_025015.2;RP11-498B4.5,downstream_gene_variant,,ENST00000433600,;	A	ENST00000369209	Transcript	synonymous_variant	1584/5722	1479/2028	493/675	A	gcG/gcT	rs782001720	1		-1	HSPA12A	HGNC	HGNC:19022	protein_coding	YES	CCDS41569.1	ENSP00000358211	O43301		UPI00001B3DE3	NM_025015.2			12/12		Gene3D:3.30.420.40,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF46,Superfamily_domains:SSF53067																	LOW	1	SNV	1			1										PASS		rs782001720	.												A	2	1	41	116675330	116675330	C	A	1	0	0	0	0	0	0	0	1	7300	639	23	1		1	HSPA12A	10	116675330	Silent	SNP	C	C3N-00199_TP	581577	116675330	17122092	184	11847											
MKI67	0	.	GRCh38	chr10	128112373	128112373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggagctggagggcttataaCcaagctttgtgccttcactt	9	12	11	9	0	1	0	1	0	0	0	1	2	1	2	2	3	4	3	2	3	3	5			C3N-00199_TP	C3N-00199_NB	C	C																c.1729G>A	p.Val577Ile	p.V577I	ENST00000368654	9/15	120	103	17	299	299	0	strelka-varscan-mutect	MKI67,missense_variant,p.Val577Ile,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Val217Ile,ENST00000368653,NM_001145966.1;MKI67,non_coding_transcript_exon_variant,,ENST00000484853,;MKI67,downstream_gene_variant,,ENST00000478293,;	T	ENST00000368654	Transcript	missense_variant	2105/12678	1729/9771	577/3256	V/I	Gtt/Att	COSM4798309	1		-1	MKI67	HGNC	HGNC:7107	protein_coding	YES	CCDS7659.1	ENSP00000357643	P46013		UPI000013DB54	NM_002417.4	tolerated(0.58)		9/15		hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17											1						MODERATE	1	SNV	2		1	1										PASS		rs1167658826	.												T	3	4	41	128112373	128112373	C	T	1	0	0	0	0	1	0	0	0	9566	507	18	3		3	MKI67	10	128112373	Missense_Mutation	SNP	C	C3N-00199_TP	11437043	128112373	5685049	185	11848											
KNDC1	0	.	GRCh38	chr10	133198784	133198784	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgactcagcccagggccgccCctgccctccaccccaggccc	5	4	9	23	1	1	1	1	1	0	0	2	1	2	1	9	2	2	0	9	2	0	0	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.2276C>A	p.Pro759His	p.P759H	ENST00000304613	14/30	78	69	9	81	81	0	strelka-varscan-mutect	KNDC1,missense_variant,p.Pro759His,ENST00000304613,NM_152643.6;KNDC1,missense_variant,p.Pro694His,ENST00000368571,;	A	ENST00000304613	Transcript	missense_variant	2297/6793	2276/5250	759/1749	P/H	cCc/cAc		1		1	KNDC1	HGNC	HGNC:29374	protein_coding	YES	CCDS7674.1	ENSP00000304437	Q76NI1		UPI00003529F7	NM_152643.6	deleterious(0.01)		14/30		Low_complexity_(Seg):seg,hmmpanther:PTHR21560,hmmpanther:PTHR21560:SF0																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	41	133198784	133198784	C	A	1	0	0	0	0	1	0	0	0	8304	623	22	2		2	KNDC1	10	133198784	Missense_Mutation	SNP	C	C3N-00199_TP	5086411	133198784	598638	186	11849											
MUC5AC	0	.	GRCh38	chr11	1198927	1198927	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgcaggtgtgagctgccGggtggccccccatcggacgc	5	6	15	15	3	0	1	0	1	0	0	1	2	0	2	5	4	3	2	5	4	0	0	rs760904372		C3N-00199_TP	C3N-00199_NB	G	G																c.16227G>T	p.=	p.P5409P	ENST00000621226	44/49	270	169	101	266	265	1	strelka-varscan-mutect	MUC5AC,synonymous_variant,p.=,ENST00000621226,NM_001304359.1;	T	ENST00000621226	Transcript	synonymous_variant	16274/17448	16227/16965	5409/5654	P	ccG/ccT	rs760904372	1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1			44/49		PROSITE_patterns:PS01208,PROSITE_profiles:PS50184,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF291,SMART_domains:SM00214																	LOW	1	SNV	5			1										PASS		rs760904372	.												T	2	4	41	1198927	1198927	G	T	1	0	0	0	0	0	0	0	1	9978	1103	39	1		1	MUC5AC	11	1198927	Silent	SNP	G	C3N-00199_TP		1198927	133887695	187	11850											
KRTAP5-1	0	.	GRCh38	chr11	1584920	1584920	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttggatcccccacaagaGccacagccccccttggagcc	8	5	8	20	0	0	1	0	0	0	1	1	3	1	3	8	2	3	0	8	2	1	2	rs754281788		C3N-00199_TP	C3N-00199_NB	G	G																c.90G>A	p.=	p.E30E	ENST00000624434	2/3	67	61	6	85	84	1	varscan-mutect	AP006285.2,synonymous_variant,p.=,ENST00000624434,;KRTAP5-1,synonymous_variant,p.=,ENST00000382171,NM_001005922.1;KRTAP5-AS1,intron_variant,,ENST00000424148,;KRTAP5-AS1,intron_variant,,ENST00000524947,;KRTAP5-AS1,intron_variant,,ENST00000532922,;KRTAP5-AS1,intron_variant,,ENST00000534077,;	A	ENST00000624434	Transcript	synonymous_variant	1107/2175	90/597	30/198	E	gaG/gaA	rs754281788,COSM3445690	1		1	AP006285.2	Clone_based_ensembl_gene		protein_coding	YES		ENSP00000485085		Q6YL49	UPI000023189E				2/3		Low_complexity_(Seg):seg											0,1						LOW		SNV	5		0,1	1										PASS		rs754281788	.												A	2	1	41	1584920	1584920	G	A	1	0	0	0	0	0	0	0	1	8453	962	34	3		3	KRTAP5-1	11	1584920	Silent	SNP	G	C3N-00199_TP	385993	1584920	133501702	188	11851											
OR51E2	0	.	GRCh38	chr11	4682556	4682556	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatcggagcgtgcaggctGcgttccgtccttacgatgaa	8	10	12	11	5	0	1	0	1	0	0	3	3	2	2	2	2	5	3	2	2	3	3	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.156C>A	p.=	p.R52R	ENST00000396950	2/2	203	127	76	273	273	0	strelka-varscan-mutect	OR51E2,synonymous_variant,p.=,ENST00000396950,NM_030774.3;OR51E2,synonymous_variant,p.=,ENST00000532598,;	T	ENST00000396950	Transcript	synonymous_variant	396/2781	156/963	52/320	R	cgC/cgA		1		-1	OR51E2	HGNC	HGNC:15195	protein_coding	YES	CCDS7751.1	ENSP00000380153	Q9H255	A0A126GVK0	UPI000003B49B	NM_030774.3			2/2		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF92,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	41	4682556	4682556	G	T	1	0	0	0	0	0	0	0	1	11169	1306	46	2		2	OR51E2	11	4682556	Silent	SNP	G	C3N-00199_TP	3097636	4682556	130404066	189	11852											
DCHS1	0	.	GRCh38	chr11	6641544	6641544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcagcagcagcagcaatgGtagcaggaggtggggcctgg	10	4	18	9	0	0	0	0	0	0	0	0	1	0	1	1	6	6	7	1	6	2	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.70C>A	p.Pro24Thr	p.P24T	ENST00000299441	2/21	142	134	8	140	140	0	varscan-mutect	DCHS1,missense_variant,p.Pro24Thr,ENST00000299441,NM_003737.3;	T	ENST00000299441	Transcript	missense_variant	482/10765	70/9897	24/3298	P/T	Cca/Aca		1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3	tolerated_low_confidence(0.39)		2/21		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1356249597	.												T	3	4	41	6641544	6641544	G	T	1	0	0	0	0	1	0	0	0	4090	1261	44	2		2	DCHS1	11	6641544	Missense_Mutation	SNP	G	C3N-00199_TP	1958988	6641544	128445078	190	11853											
CYB5R2	0	.	GRCh38	chr11	7665435	7665435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttagggtgagccgccGtctggattagtggtggcggg	5	9	19	8	3	1	1	0	1	1	0	1	2	1	2	3	6	1	1	3	6	2	2	rs146956666		C3N-00199_TP	C3N-00199_NB	G	G																c.770C>A	p.Thr257Lys	p.T257K	ENST00000533558	9/9	109	61	48	103	103	0	strelka-varscan-mutect	CYB5R2,missense_variant,p.Thr257Lys,ENST00000533558,NM_001302826.1;CYB5R2,missense_variant,p.Thr257Lys,ENST00000299498,NM_001302827.1,NM_016229.4;CYB5R2,3_prime_UTR_variant,,ENST00000524790,;CYB5R2,downstream_gene_variant,,ENST00000531096,;CYB5R2,downstream_gene_variant,,ENST00000524608,;CYB5R2,downstream_gene_variant,,ENST00000527542,;CYB5R2,downstream_gene_variant,,ENST00000436351,;CYB5R2,non_coding_transcript_exon_variant,,ENST00000528585,;CYB5R2,non_coding_transcript_exon_variant,,ENST00000534698,;CYB5R2,non_coding_transcript_exon_variant,,ENST00000526084,;CYB5R2,non_coding_transcript_exon_variant,,ENST00000532621,;CYB5R2,downstream_gene_variant,,ENST00000534443,;CYB5R2,downstream_gene_variant,,ENST00000532920,;	T	ENST00000533558	Transcript	missense_variant	1327/1658	770/831	257/276	T/K	aCg/aAg	rs146956666,COSM1357068	1		-1	CYB5R2	HGNC	HGNC:24376	protein_coding	YES	CCDS7780.1	ENSP00000437041	Q6BCY4		UPI000013E5AB	NM_001302826.1	deleterious(0.03)		9/9		hmmpanther:PTHR19370:SF108,hmmpanther:PTHR19370,Pfam_domain:PF00175,Gene3D:3.40.50.80,Superfamily_domains:SSF52343											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs146956666	.												T	3	4	41	7665435	7665435	G	T	1	0	0	0	0	1	0	0	0	3931	1145	40	1		1	CYB5R2	11	7665435	Missense_Mutation	SNP	G	C3N-00199_TP	1023891	7665435	127421187	191	11854											
OTOG	0	.	GRCh38	chr11	17596998	17596998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgactggcgaacccccCgcctctgccgtgagtgtccc	4	9	11	17	3	1	2	0	2	1	0	2	3	2	2	6	1	2	1	6	1	1	1			C3N-00199_TP	C3N-00199_NB	C	C																c.3709C>T	p.Arg1237Cys	p.R1237C	ENST00000399391	29/55	128	121	7	154	154	0	strelka-mutect	OTOG,missense_variant,p.Arg1225Cys,ENST00000399397,NM_001292063.1;OTOG,missense_variant,p.Arg1237Cys,ENST00000399391,NM_001277269.1;OTOG,missense_variant,p.Arg252Cys,ENST00000342528,;	T	ENST00000399391	Transcript	missense_variant	3709/8778	3709/8778	1237/2925	R/C	Cgc/Tgc	COSM4790173	1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1	deleterious(0)		29/55		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228,Pfam_domain:PF08742,SMART_domains:SM00832,Superfamily_domains:0050434											1						MODERATE	1	SNV	5		1	1										PASS		rs1037786055	.												T	3	4	41	17596998	17596998	C	T	1	0	0	0	0	1	0	0	0	11370	652	23	1		1	OTOG	11	17596998	Missense_Mutation	SNP	C	C3N-00199_TP	9931563	17596998	117489624	192	11855											
PAMR1	0	.	GRCh38	chr11	35451907	35451907	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacaatgaatcttctgaCgccttgatcttggacttccc	9	12	7	13	1	3	4	0	3	3	1	4	5	4	5	3	1	0	0	3	1	2	4	rs772690955		C3N-00199_TP	C3N-00199_NB	C	C																c.852G>T	p.=	p.A284A	ENST00000622144	7/12	38	28	10	112	112	0	strelka-varscan-mutect	PAMR1,synonymous_variant,p.=,ENST00000622144,NM_015430.3;PAMR1,synonymous_variant,p.=,ENST00000527605,;PAMR1,intron_variant,,ENST00000619888,NM_001001991.2;PAMR1,intron_variant,,ENST00000621476,NM_001282675.1;PAMR1,intron_variant,,ENST00000615849,NM_001282676.1;PAMR1,intron_variant,,ENST00000611014,;PAMR1,intron_variant,,ENST00000529303,;PAMR1,non_coding_transcript_exon_variant,,ENST00000534803,;	A	ENST00000622144	Transcript	synonymous_variant	890/2785	852/2214	284/737	A	gcG/gcT	rs772690955	1		-1	PAMR1	HGNC	HGNC:24554	protein_coding	YES	CCDS7898.1	ENSP00000482899	Q6UXH9		UPI000013DB70	NM_015430.3			7/12		Coiled-coils_(Ncoils):Coil																	LOW	1	SNV	1			1										PASS		rs772690955	.												A	2	1	41	35451907	35451907	C	A	1	0	0	0	0	0	0	0	1	11494	523	19	1		1	PAMR1	11	35451907	Silent	SNP	C	C3N-00199_TP	17854909	35451907	99634715	193	11856											
CHST1	0	.	GRCh38	chr11	45649744	45649744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgaccgaggggttcttcaGctcctcctccgaggcggcga	5	8	14	14	4	2	1	1	1	1	0	5	4	5	1	4	4	1	3	4	4	0	2	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1180C>A	p.Leu394Met	p.L394M	ENST00000308064	4/4	88	45	43	59	59	0	strelka-varscan-mutect	CHST1,missense_variant,p.Leu394Met,ENST00000308064,NM_003654.5;RP11-495O11.1,upstream_gene_variant,,ENST00000525563,;CHST1,upstream_gene_variant,,ENST00000533673,;CHST1,downstream_gene_variant,,ENST00000531322,;	T	ENST00000308064	Transcript	missense_variant	1851/2718	1180/1236	394/411	L/M	Ctg/Atg		1		-1	CHST1	HGNC	HGNC:1969	protein_coding	YES	CCDS7913.1	ENSP00000309270	O43916		UPI0000073EA0	NM_003654.5	deleterious(0)		4/4		hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF36,PIRSF_domain:PIRSF005883																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	45649744	45649744	G	T	1	0	0	0	0	1	0	0	0	3157	962	34	2		2	CHST1	11	45649744	Missense_Mutation	SNP	G	C3N-00199_TP	10197837	45649744	89436878	194	11857											
BTBD18	0	.	GRCh38	chr11	57745927	57745927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggattccagctcagacacacGgagctgacgggcagcagata	12	5	13	11	2	1	3	1	1	0	2	2	5	2	5	1	3	3	4	1	3	1	2	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.346C>T	p.Arg116Cys	p.R116C	ENST00000422652	3/3	178	121	57	200	200	0	strelka-varscan-mutect	BTBD18,missense_variant,p.Arg116Cys,ENST00000422652,NM_001145101.1;BTBD18,missense_variant,p.Arg116Cys,ENST00000436147,;TMX2,downstream_gene_variant,,ENST00000278422,NM_015959.3;TMX2,downstream_gene_variant,,ENST00000378312,NM_001144012.2;C11orf31,downstream_gene_variant,,ENST00000622257,;C11orf31,downstream_gene_variant,,ENST00000388857,;C11orf31,downstream_gene_variant,,ENST00000534355,NM_170746.2;BTBD18,downstream_gene_variant,,ENST00000527995,;C11orf31,downstream_gene_variant,,ENST00000528798,;C11orf31,downstream_gene_variant,,ENST00000623303,;TMX2-CTNND1,intron_variant,,ENST00000528395,;RP11-691N7.6,intron_variant,,ENST00000531074,;TMX2,downstream_gene_variant,,ENST00000529403,;C11orf31,downstream_gene_variant,,ENST00000533321,;C11orf31,downstream_gene_variant,,ENST00000534386,;	A	ENST00000422652	Transcript	missense_variant	635/3044	346/2139	116/712	R/C	Cgt/Tgt		1		-1	BTBD18	HGNC	HGNC:37214	protein_coding	YES	CCDS44603.1	ENSP00000394472	B2RXH4		UPI00006C113A	NM_001145101.1	deleterious(0.02)		3/3		hmmpanther:PTHR24412,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE		SNV	4			1										PASS		.	.												A	3	1	41	57745927	57745927	G	A	1	0	0	0	0	1	0	0	0	1717	1116	39	1		1	BTBD18	11	57745927	Missense_Mutation	SNP	G	C3N-00199_TP	12096183	57745927	77340695	195	11858											
MS4A5	0	.	GRCh38	chr11	60430856	60430856	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagttatcttccttttcaccTtgttaaaaccatatccaagg	11	15	5	10	0	2	0	1	0	1	0	4	1	4	0	4	1	1	2	4	1	5	7			C3N-00199_TP	C3N-00199_NB	T	T																c.214T>C	p.=	p.L72L	ENST00000300190	2/5	47	25	22	172	172	0	strelka-varscan-mutect	MS4A5,synonymous_variant,p.=,ENST00000300190,NM_023945.2;MS4A5,synonymous_variant,p.=,ENST00000528905,;MS4A5,intron_variant,,ENST00000528093,;MS4A5,intron_variant,,ENST00000534071,;MS4A5,synonymous_variant,p.=,ENST00000533885,;MS4A5,intron_variant,,ENST00000531403,;	C	ENST00000300190	Transcript	synonymous_variant	300/722	214/603	72/200	L	Ttg/Ctg	COSM543995	1		1	MS4A5	HGNC	HGNC:13374	protein_coding	YES	CCDS7987.1	ENSP00000300190	Q9H3V2		UPI0000043670	NM_023945.2			2/5		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF54											1						LOW	1	SNV	1		1	1										PASS		.	.												C	2	2	41	60430856	60430856	T	C	1	0	0	0	0	0	0	0	1	9842	1606	56	5		5	MS4A5	11	60430856	Silent	SNP	T	C3N-00199_TP	2684929	60430856	74655766	196	11859											
FAT3	0	.	GRCh38	chr11	92800787	92800787	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgtgagagtgattgttgtgGatgaaaatgacaatgctccc	11	12	12	6	0	0	4	0	4	0	1	1	6	1	5	1	1	1	2	1	1	3	2			C3N-00199_TP	C3N-00199_NB	G	G																c.7324G>C	p.Asp2442His	p.D2442H	ENST00000525166	9/27	122	70	52	275	275	0	strelka-varscan-mutect	FAT3,missense_variant,p.Asp2592His,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Asp2442His,ENST00000525166,;	C	ENST00000525166	Transcript	missense_variant	7346/18699	7324/13320	2442/4439	D/H	Gat/Cat	COSM4558698,COSM4558699,COSM5551932,COSM5551933	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		deleterious(0)		9/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		.	.												C	3	2	41	92800787	92800787	G	C	1	0	0	0	0	1	0	0	0	5551	1174	41	4		4	FAT3	11	92800787	Missense_Mutation	SNP	G	C3N-00199_TP	32369931	92800787	42285835	197	11860											
MTNR1B	0	.	GRCh38	chr11	92981571	92981571	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggagcactgcaaggccagCgcctttgtgatgggcctgag	8	7	16	10	1	0	2	0	2	0	0	0	4	0	3	3	3	3	2	3	3	1	1	rs200944330		C3N-00199_TP	C3N-00199_NB	C	C																c.348C>G	p.Ser116Arg	p.S116R	ENST00000257068	2/2	407	246	161	458	458	0	strelka-varscan-mutect	MTNR1B,missense_variant,p.Ser116Arg,ENST00000257068,NM_005959.3;MTNR1B,intron_variant,,ENST00000528076,;MTNR1B,3_prime_UTR_variant,,ENST00000532482,;	G	ENST00000257068	Transcript	missense_variant	354/1565	348/1089	116/362	S/R	agC/agG	rs200944330	1		1	MTNR1B	HGNC	HGNC:7464	protein_coding	YES	CCDS8290.1	ENSP00000257068	P49286		UPI0000050408	NM_005959.3	deleterious(0)		2/2		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF262,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		rs200944330	.												G	3	3	41	92981571	92981571	C	G	1	0	0	0	0	1	0	0	0	9939	767	27	4		4	MTNR1B	11	92981571	Missense_Mutation	SNP	C	C3N-00199_TP	180784	92981571	42105051	198	11861											
CASP1	0	.	GRCh38	chr11	105030425	105030425	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacctcagctccagttcttcTaggaatactgtcaaattctt	11	14	5	11	0	5	0	2	0	3	0	6	1	6	1	2	1	3	2	2	1	5	6	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.532A>T	p.Arg178Ter	p.R178*	ENST00000533400	5/9	99	71	28	257	257	0	strelka-varscan-mutect	CASP1,stop_gained,p.Arg178Ter,ENST00000533400,NM_001257118.2;CASP1,stop_gained,p.Arg141Ter,ENST00000527979,;CASP1,stop_gained,p.Arg178Ter,ENST00000436863,NM_033292.3;CASP1,stop_gained,p.Arg139Ter,ENST00000528974,;CASP1,stop_gained,p.Arg157Ter,ENST00000525825,NM_001223.4,NM_001257119.2;CASP1,stop_gained,p.Arg85Ter,ENST00000526568,NM_033293.3;CASP1,stop_gained,p.Arg85Ter,ENST00000446369,NM_033294.3;CASP1,stop_gained,p.Arg85Ter,ENST00000534497,;CASP1,stop_gained,p.Arg27Ter,ENST00000532439,;CASP1,intron_variant,,ENST00000353247,NM_033295.3;CASP1,intron_variant,,ENST00000531166,;CASP1,3_prime_UTR_variant,,ENST00000529871,;CASP1,downstream_gene_variant,,ENST00000526511,;CASP1,downstream_gene_variant,,ENST00000528424,;CASP1,downstream_gene_variant,,ENST00000532520,;CASP1,upstream_gene_variant,,ENST00000527625,;	A	ENST00000533400	Transcript	stop_gained	568/2001	532/1215	178/404	R/*	Aga/Tga		1		-1	CASP1	HGNC	HGNC:1499	protein_coding	YES	CCDS8330.1	ENSP00000433138	P29466		UPI000003AEF8	NM_001257118.2			5/9		Gene3D:3.40.50.1460,Pfam_domain:PF00656,PIRSF_domain:PIRSF038001,PROSITE_profiles:PS50208,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF34,SMART_domains:SM00115,Superfamily_domains:SSF52129																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	41	105030425	105030425	T	A	1	0	0	0	0	0	1	0	0	2368	1530	53	4		4	CASP1	11	105030425	Nonsense_Mutation	SNP	T	C3N-00199_TP	12048854	105030425	30056197	199	11862											
NLRX1	0	.	GRCh38	chr11	119174596	119174596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcaaccagccgtactgCgggtatgccgttggcggttc	5	9	13	14	5	1	0	1	0	0	0	2	0	1	0	4	3	5	4	4	3	3	4	rs552633626		C3N-00199_TP	C3N-00199_NB	C	C																c.993C>G	p.Cys331Trp	p.C331W	ENST00000409109	6/10	357	242	115	394	394	0	strelka-varscan-mutect	NLRX1,missense_variant,p.Cys331Trp,ENST00000409109,NM_001282144.1;NLRX1,missense_variant,p.Cys331Trp,ENST00000292199,NM_024618.3;NLRX1,missense_variant,p.Cys331Trp,ENST00000409991,NM_001282143.1;NLRX1,missense_variant,p.Cys331Trp,ENST00000409265,NM_001282358.1;NLRX1,missense_variant,p.Cys331Trp,ENST00000525863,;NLRX1,downstream_gene_variant,,ENST00000454811,;NLRX1,downstream_gene_variant,,ENST00000449394,;NLRX1,downstream_gene_variant,,ENST00000422249,;NLRX1,downstream_gene_variant,,ENST00000474751,;NLRX1,upstream_gene_variant,,ENST00000469103,;NLRX1,downstream_gene_variant,,ENST00000468765,;NLRX1,downstream_gene_variant,,ENST00000482180,;NLRX1,non_coding_transcript_exon_variant,,ENST00000481860,;NLRX1,non_coding_transcript_exon_variant,,ENST00000524562,;	G	ENST00000409109	Transcript	missense_variant	1580/4092	993/2928	331/975	C/W	tgC/tgG	rs552633626	1		1	NLRX1	HGNC	HGNC:29890	protein_coding	YES	CCDS8416.1	ENSP00000387334	Q86UT6		UPI0000161217	NM_001282144.1	deleterious_low_confidence(0)		6/10		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF152																	MODERATE	1	SNV	1			1										PASS		rs552633626	.												G	3	3	41	119174596	119174596	C	G	1	0	0	0	0	1	0	0	0	10523	776	27	4		4	NLRX1	11	119174596	Missense_Mutation	SNP	C	C3N-00199_TP	14144171	119174596	15912026	200	11863											
FOXJ2	0	.	GRCh38	chr12	8044053	8044053	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggggaatccgcagatgTcacttcagagccccacatct	10	8	10	13	1	3	3	2	1	1	2	4	4	4	4	3	2	1	1	3	2	1	1	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.580T>C	p.Ser194Pro	p.S194P	ENST00000162391	5/11	42	31	11	52	52	0	strelka-varscan-mutect	FOXJ2,missense_variant,p.Ser194Pro,ENST00000162391,NM_018416.2;FOXJ2,missense_variant,p.Ser194Pro,ENST00000428177,;	C	ENST00000162391	Transcript	missense_variant	1725/5523	580/1725	194/574	S/P	Tca/Cca		1		1	FOXJ2	HGNC	HGNC:24818	protein_coding	YES	CCDS8587.1	ENSP00000162391	Q9P0K8		UPI000012ADE1	NM_018416.2	tolerated(0.35)		5/11		hmmpanther:PTHR11829:SF103,hmmpanther:PTHR11829																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	41	8044053	8044053	T	C	1	0	0	0	0	1	0	0	0	5875	1667	58	5		5	FOXJ2	12	8044053	Missense_Mutation	SNP	T	C3N-00199_TP		8044053	125231256	201	11864											
CAPZA3	0	.	GRCh38	chr12	18738410	18738410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacttatgcaccaccaaGgtgagtgtgcaggccaccaa	15	6	9	11	0	0	1	0	1	0	0	0	1	0	1	4	2	3	2	4	2	5	1	rs757316928		C3N-00199_TP	C3N-00199_NB	G	G																c.142G>T	p.Gly48Cys	p.G48C	ENST00000317658	1/1	76	54	22	279	279	0	strelka-varscan-mutect	CAPZA3,missense_variant,p.Gly48Cys,ENST00000317658,NM_033328.2;PLCZ1,upstream_gene_variant,,ENST00000266505,NM_033123.3;PLCZ1,upstream_gene_variant,,ENST00000539875,;PLCZ1,upstream_gene_variant,,ENST00000543242,;PLCZ1,upstream_gene_variant,,ENST00000541966,;PLCZ1,upstream_gene_variant,,ENST00000539072,;RP11-361I14.2,downstream_gene_variant,,ENST00000536931,;PLCZ1,upstream_gene_variant,,ENST00000545129,;PLCZ1,upstream_gene_variant,,ENST00000541109,;PLCZ1,upstream_gene_variant,,ENST00000318197,;PLCZ1,upstream_gene_variant,,ENST00000539207,;PLCZ1,upstream_gene_variant,,ENST00000544849,;PLCZ1,upstream_gene_variant,,ENST00000535429,;	T	ENST00000317658	Transcript	missense_variant	310/1087	142/900	48/299	G/C	Ggt/Tgt	rs757316928	1		1	CAPZA3	HGNC	HGNC:24205	protein_coding	YES	CCDS8681.1	ENSP00000326238	Q96KX2	A0A140VKF6	UPI00001270FE	NM_033328.2	deleterious(0.01)		1/1		hmmpanther:PTHR10653,hmmpanther:PTHR10653:SF6,Pfam_domain:PF01267,Superfamily_domains:SSF90096																	MODERATE		SNV				1										PASS		rs757316928	.												T	3	4	41	18738410	18738410	G	T	1	0	0	0	0	1	0	0	0	2337	1000	35	2		2	CAPZA3	12	18738410	Missense_Mutation	SNP	G	C3N-00199_TP	10694357	18738410	114536899	202	11865											
PKP2	0	.	GRCh38	chr12	32841085	32841085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagcaaaccatttgcttttGggtagtctccttcaggccac	8	12	9	12	1	2	0	1	0	1	0	3	1	2	0	3	2	3	3	3	2	2	5	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1631C>A	p.Pro544Gln	p.P544Q	ENST00000070846	7/14	108	73	35	244	244	0	strelka-varscan-mutect	PKP2,missense_variant,p.Pro500Gln,ENST00000340811,NM_001005242.2;PKP2,missense_variant,p.Pro544Gln,ENST00000070846,NM_004572.3;	T	ENST00000070846	Transcript	missense_variant	1656/4241	1631/2646	544/881	P/Q	cCa/cAa		1		-1	PKP2	HGNC	HGNC:9024	protein_coding	YES	CCDS8731.1	ENSP00000070846	Q99959		UPI000013C576	NM_004572.3	deleterious(0)		7/14		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF25,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs1318070848	.												T	3	4	41	32841085	32841085	G	T	1	0	0	0	0	1	0	0	0	12081	1348	47	2		2	PKP2	12	32841085	Missense_Mutation	SNP	G	C3N-00199_TP	14102675	32841085	100434224	203	11866											
NCKAP5L	0	.	GRCh38	chr12	49801960	49801960	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttgatgcactcctctCgcaggtcctgccgcccaccc	5	9	8	19	2	2	1	1	1	1	0	5	1	4	1	5	1	3	3	5	1	0	1	rs374619177		C3N-00199_TP	C3N-00199_NB	C	C																c.239G>T	p.Arg80Leu	p.R80L	ENST00000335999	6/13	157	113	44	185	185	0	strelka-varscan-mutect	NCKAP5L,missense_variant,p.Arg80Leu,ENST00000335999,NM_001037806.3;NCKAP5L,upstream_gene_variant,,ENST00000433948,;NCKAP5L,downstream_gene_variant,,ENST00000480927,;NCKAP5L,downstream_gene_variant,,ENST00000477361,;NCKAP5L,downstream_gene_variant,,ENST00000491441,;	A	ENST00000335999	Transcript	missense_variant	441/4900	239/4005	80/1334	R/L	cGa/cTa	rs374619177	1		-1	NCKAP5L	HGNC	HGNC:29321	protein_coding	YES	CCDS41781.2	ENSP00000337998	Q9HCH0		UPI00006C1298	NM_001037806.3	deleterious(0)		6/13		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21740																	MODERATE	1	SNV	5			1										PASS		rs374619177	.												A	3	1	41	49801960	49801960	C	A	1	0	0	0	0	1	0	0	0	10242	884	31	1		1	NCKAP5L	12	49801960	Missense_Mutation	SNP	C	C3N-00199_TP	16960875	49801960	83473349	204	11867											
MYRFL	0	.	GRCh38	chr12	69936569	69936569	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccggggaatgaaagaaGtctcttcaagtcctgtgcaa	12	9	10	10	1	2	2	1	1	1	1	5	3	4	3	3	2	1	1	3	2	5	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.2161G>C	p.Val721Leu	p.V721L	ENST00000552032	19/25	67	50	17	171	171	0	strelka-varscan-mutect	MYRFL,missense_variant,p.Val710Leu,ENST00000547771,;MYRFL,missense_variant,p.Val721Leu,ENST00000552032,NM_182530.2;MYRFL,missense_variant,p.Val186Leu,ENST00000548892,;MYRFL,missense_variant,p.Val86Leu,ENST00000535034,;MYRFL,missense_variant,p.Val86Leu,ENST00000299350,;LINC01481,intron_variant,,ENST00000549419,;	C	ENST00000552032	Transcript	missense_variant	2375/3139	2161/2733	721/910	V/L	Gtc/Ctc		1		1	MYRFL	HGNC	HGNC:26316	protein_coding	YES	CCDS76577.1	ENSP00000448753	Q96LU7		UPI00016627C0	NM_182530.2	tolerated(0.4)		19/25		hmmpanther:PTHR13029,hmmpanther:PTHR13029:SF17																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	41	69936569	69936569	G	C	1	0	0	0	0	1	0	0	0	10102	1029	36	4		4	MYRFL	12	69936569	Missense_Mutation	SNP	G	C3N-00199_TP	20134609	69936569	63338740	205	11868											
POLR3B	0	.	GRCh38	chr12	106459364	106459364	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtacaaagatgtacccAtaacgtatgtattggttgtg	13	12	9	7	1	0	1	0	0	0	1	0	1	0	1	1	1	3	5	1	1	6	7	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.2566A>T	p.Ile856Leu	p.I856L	ENST00000228347	22/28	178	136	42	515	515	0	strelka-varscan-mutect	POLR3B,missense_variant,p.Ile856Leu,ENST00000228347,NM_018082.5;POLR3B,missense_variant,p.Ile798Leu,ENST00000539066,NM_001160708.1;	T	ENST00000228347	Transcript	missense_variant	2788/4273	2566/3402	856/1133	I/L	Ata/Tta		1		1	POLR3B	HGNC	HGNC:30348	protein_coding	YES	CCDS9105.1	ENSP00000228347	Q9NW08		UPI000000DB67	NM_018082.5	tolerated(0.88)		22/28		Gene3D:2.40.50.150,Pfam_domain:PF00562,hmmpanther:PTHR20856,hmmpanther:PTHR20856:SF8,Superfamily_domains:SSF64484																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	106459364	106459364	A	T	1	0	0	0	0	1	0	0	0	12340	231	8	4		4	POLR3B	12	106459364	Missense_Mutation	SNP	A	C3N-00199_TP	36522795	106459364	26815945	206	11869											
TBX5	0	.	GRCh38	chr12	114366205	114366205	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taaatttggctatgctcctgGggcagtgggtatgggttggg	6	13	17	5	0	0	0	0	0	0	0	1	0	1	0	1	6	1	5	1	6	4	5			C3N-00199_TP	C3N-00199_NB	G	G																c.942C>A	p.=	p.P314P	ENST00000310346	8/9	184	139	45	231	230	1	strelka-varscan-mutect	TBX5,synonymous_variant,p.=,ENST00000310346,NM_000192.3;TBX5,synonymous_variant,p.=,ENST00000349716,NM_080717.2;TBX5,synonymous_variant,p.=,ENST00000405440,NM_181486.2;TBX5,synonymous_variant,p.=,ENST00000526441,;	T	ENST00000310346	Transcript	synonymous_variant	1609/3825	942/1557	314/518	P	ccC/ccA	COSM5268581,COSM5268582	1		-1	TBX5	HGNC	HGNC:11604	protein_coding	YES	CCDS9173.1	ENSP00000309913	Q99593		UPI0000136AA2	NM_000192.3			8/9		Low_complexity_(Seg):seg,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	41	114366205	114366205	G	T	1	0	0	0	0	0	0	0	1	16065	1219	43	2		2	TBX5	12	114366205	Silent	SNP	G	C3N-00199_TP	7906841	114366205	18909104	207	11870											
DNAH10	0	.	GRCh38	chr12	123841387	123841387	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagaaaaactggtgtccgcGatgatttcagcagaaggaga	14	7	14	6	2	1	4	1	1	0	3	2	7	2	4	1	3	2	1	1	3	3	1			C3N-00199_TP	C3N-00199_NB	G	G																c.4848G>A	p.=	p.A1616A	ENST00000638045	29/78	350	304	46	421	421	0	strelka-varscan-mutect	DNAH10,synonymous_variant,p.=,ENST00000409039,;DNAH10,synonymous_variant,p.=,ENST00000638045,NM_207437.3;DNAH10,synonymous_variant,p.=,ENST00000497783,;	A	ENST00000638045	Transcript	synonymous_variant	4873/13678	4848/13416	1616/4471	A	gcG/gcA	COSM4549853,COSM4549854	1		1	DNAH10	HGNC	HGNC:2941	protein_coding	YES	CCDS9255.2	ENSP00000489675			UPI00014F7B89	NM_207437.3			29/78		hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF08393											1,1						LOW	1	SNV			1,1	1										PASS		rs984373122	.												A	2	1	41	123841387	123841387	G	A	1	0	0	0	0	0	0	0	1	4411	1045	37	1		1	DNAH10	12	123841387	Silent	SNP	G	C3N-00199_TP	9475182	123841387	9433922	208	11871											
TMEM132C	0	.	GRCh38	chr12	128415202	128415202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggtgcggggcagctgcCggctgaagggggacctgggg	6	4	23	8	2	0	2	0	1	0	1	0	4	0	3	2	8	3	3	2	8	1	0	rs557263376		C3N-00199_TP	C3N-00199_NB	C	C																c.556C>T	p.Arg186Trp	p.R186W	ENST00000435159	2/9	241	215	26	293	293	0	strelka-varscan-mutect	TMEM132C,missense_variant,p.Arg186Trp,ENST00000435159,NM_001136103.2;	T	ENST00000435159	Transcript	missense_variant	556/4947	556/3327	186/1108	R/W	Cgg/Tgg	rs557263376,COSM1476318	1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2	deleterious(0)		2/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs557263376	.												T	3	4	41	128415202	128415202	C	T	1	0	0	0	0	1	0	0	0	16491	643	23	1		1	TMEM132C	12	128415202	Missense_Mutation	SNP	C	C3N-00199_TP	4573815	128415202	4860107	209	11872											
TMEM132C	0	.	GRCh38	chr12	128705137	128705137	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtgatggctctgtgacGcccctggacatctacgacac	8	10	10	13	2	3	2	1	2	2	0	3	4	3	3	2	2	1	1	2	2	1	2	rs754749450		C3N-00199_TP	C3N-00199_NB	G	G																c.2169G>T	p.=	p.T723T	ENST00000435159	9/9	77	71	6	90	90	0	strelka-varscan-mutect	TMEM132C,synonymous_variant,p.=,ENST00000435159,NM_001136103.2;	T	ENST00000435159	Transcript	synonymous_variant	2169/4947	2169/3327	723/1108	T	acG/acT	rs754749450	1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2			9/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4,Pfam_domain:PF16070																	LOW	1	SNV	5			1										PASS		rs754749450	.												T	2	4	41	128705137	128705137	G	T	1	0	0	0	0	0	0	0	1	16491	1074	38	1		1	TMEM132C	12	128705137	Silent	SNP	G	C3N-00199_TP	289935	128705137	4570172	210	11873											
SLC15A4	0	.	GRCh38	chr12	128814983	128814983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgaatataggcaatgcCacctaacgacaggatcgctc	12	8	9	12	2	0	1	0	1	0	0	2	3	0	2	2	2	3	3	2	2	5	3	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.634G>T	p.Gly212Cys	p.G212C	ENST00000266771	2/8	260	235	25	315	315	0	strelka-varscan-mutect	SLC15A4,missense_variant,p.Gly212Cys,ENST00000266771,NM_145648.3;SLC15A4,upstream_gene_variant,,ENST00000614634,;SLC15A4,non_coding_transcript_exon_variant,,ENST00000539703,;SLC15A4,non_coding_transcript_exon_variant,,ENST00000535272,;RP11-21K12.2,upstream_gene_variant,,ENST00000623017,;SLC15A4,missense_variant,p.Gly158Cys,ENST00000376744,;SLC15A4,missense_variant,p.Gly72Cys,ENST00000376740,;SLC15A4,non_coding_transcript_exon_variant,,ENST00000366292,;SLC15A4,upstream_gene_variant,,ENST00000544112,;	A	ENST00000266771	Transcript	missense_variant	674/2779	634/1734	212/577	G/C	Ggc/Tgc		1		-1	SLC15A4	HGNC	HGNC:23090	protein_coding	YES	CCDS9264.1	ENSP00000266771	Q8N697		UPI000006F120	NM_145648.3	deleterious(0.03)		2/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR11654,hmmpanther:PTHR11654:SF80,Pfam_domain:PF00854,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	128814983	128814983	C	A	1	0	0	0	0	1	0	0	0	14666	594	21	2		2	SLC15A4	12	128814983	Missense_Mutation	SNP	C	C3N-00199_TP	109846	128814983	4460326	211	11874											
MMP17	0	.	GRCh38	chr12	131840591	131840591	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggtccggacgttcccacgGgactcaccactggggcacga	8	5	14	14	4	1	0	1	0	0	0	3	3	3	2	3	5	0	2	3	5	0	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.441G>T	p.=	p.R147R	ENST00000360564	4/10	41	27	14	45	45	0	strelka-varscan-mutect	MMP17,synonymous_variant,p.=,ENST00000360564,NM_016155.4;MMP17,synonymous_variant,p.=,ENST00000535291,;MMP17,synonymous_variant,p.=,ENST00000545671,;MMP17,synonymous_variant,p.=,ENST00000545790,;MMP17,5_prime_UTR_variant,,ENST00000534865,;MMP17,upstream_gene_variant,,ENST00000535004,;MMP17,upstream_gene_variant,,ENST00000542648,;MMP17,upstream_gene_variant,,ENST00000535182,;MMP17,upstream_gene_variant,,ENST00000542142,;MMP17,upstream_gene_variant,,ENST00000537848,;	T	ENST00000360564	Transcript	synonymous_variant	543/2411	441/1812	147/603	R	cgG/cgT		1		1	MMP17	HGNC	HGNC:7163	protein_coding	YES	CCDS31927.1	ENSP00000353767	Q9ULZ9		UPI00001AF305	NM_016155.4			4/10		Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF21,SMART_domains:SM00235,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	41	131840591	131840591	G	T	1	0	0	0	0	0	0	0	1	9619	1219	43	2		2	MMP17	12	131840591	Silent	SNP	G	C3N-00199_TP	3025608	131840591	1434718	212	11875											
ATP7B	0	.	GRCh38	chr13	51939161	51939161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcctcctgcttgacagCgtctgcgattgcgatcatcc	6	10	11	14	3	2	1	1	1	1	0	4	3	4	1	3	1	5	2	3	1	0	2	rs758025913		C3N-00199_TP	C3N-00199_NB	C	C																c.3589G>A	p.Ala1197Thr	p.A1197T	ENST00000242839	17/21	599	536	63	601	600	1	strelka-varscan-mutect	ATP7B,missense_variant,p.Ala1197Thr,ENST00000242839,NM_000053.3;ATP7B,missense_variant,p.Ala1119Thr,ENST00000448424,;ATP7B,missense_variant,p.Ala1086Thr,ENST00000400366,NM_001243182.1;ATP7B,missense_variant,p.Ala990Thr,ENST00000344297,NM_001005918.2;ATP7B,missense_variant,p.Ala1149Thr,ENST00000634844,;ATP7B,missense_variant,p.Ala1132Thr,ENST00000418097,;ATP7B,missense_variant,p.Ala767Thr,ENST00000400370,;ATP7B,upstream_gene_variant,,ENST00000634519,;ATP7B,downstream_gene_variant,,ENST00000466629,;ATP7B,3_prime_UTR_variant,,ENST00000634308,;ATP7B,3_prime_UTR_variant,,ENST00000634296,;ATP7B,non_coding_transcript_exon_variant,,ENST00000634810,;ATP7B,non_coding_transcript_exon_variant,,ENST00000634620,;	T	ENST00000242839	Transcript	missense_variant	3746/6638	3589/4398	1197/1465	A/T	Gct/Act	rs758025913,CM994114,COSM4664512	1		-1	ATP7B	HGNC	HGNC:870	protein_coding	YES	CCDS41892.1	ENSP00000242839	P35670	A0A024RDX3	UPI00001FCE15	NM_000053.3	tolerated(1)		17/21		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF326,TIGRFAM_domain:TIGR01494,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01525,Pfam_domain:PF00702,Superfamily_domains:SSF56784,Prints_domain:PR00119											0,0,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs758025913	.												T	3	4	41	51939161	51939161	C	T	1	0	0	0	0	1	0	0	0	1344	768	27	1		1	ATP7B	13	51939161	Missense_Mutation	SNP	C	C3N-00199_TP		51939161	62425167	213	11876											
PCDH17	0	.	GRCh38	chr13	57724684	57724684	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaggtgctggatgccacAgttccctgcagccaatcagg	9	8	12	12	0	1	1	1	1	0	0	2	2	2	2	3	3	4	3	3	3	1	1	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.2870A>T	p.Gln957Leu	p.Q957L	ENST00000377918	4/4	80	61	19	168	168	0	strelka-varscan-mutect	PCDH17,missense_variant,p.Gln957Leu,ENST00000377918,NM_001040429.2;PCDH17,missense_variant,p.Gln344Leu,ENST00000612954,;PCDH17,missense_variant,p.Gln163Leu,ENST00000615375,;PCDH17,3_prime_UTR_variant,,ENST00000484979,;	T	ENST00000377918	Transcript	missense_variant	3605/8232	2870/3480	957/1159	Q/L	cAg/cTg		1		1	PCDH17	HGNC	HGNC:14267	protein_coding	YES	CCDS31986.1	ENSP00000367151	O14917		UPI00001FCE5B	NM_001040429.2	deleterious(0.03)		4/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	57724684	57724684	A	T	1	0	0	0	0	1	0	0	0	11599	188	7	4		4	PCDH17	13	57724684	Missense_Mutation	SNP	A	C3N-00199_TP	5785523	57724684	56639644	214	11877											
SLITRK1	0	.	GRCh38	chr13	83880803	83880803	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagaccactcggccgatCagggcattcttgggaatgtt	8	10	12	11	3	2	1	1	0	1	1	4	3	2	2	2	3	0	3	2	3	1	3	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.705G>T	p.=	p.L235L	ENST00000377084	1/1	267	226	41	390	390	0	strelka-varscan-mutect	SLITRK1,synonymous_variant,p.=,ENST00000377084,NM_052910.2,NM_001281503.1;	A	ENST00000377084	Transcript	synonymous_variant	1591/5189	705/2091	235/696	L	ctG/ctT		1		-1	SLITRK1	HGNC	HGNC:20297	protein_coding	YES	CCDS9464.1	ENSP00000366288	Q96PX8		UPI0000035971	NM_052910.2,NM_001281503.1			1/1		SMART_domains:SM00082,Superfamily_domains:SSF52058																	LOW	1	SNV				1										PASS		.	.												A	2	1	41	83880803	83880803	C	A	1	0	0	0	0	0	0	0	1	15033	813	29	2		2	SLITRK1	13	83880803	Silent	SNP	C	C3N-00199_TP	26156119	83880803	30483525	215	11878											
SLITRK5	0	.	GRCh38	chr13	87676762	87676762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctttcggggatctcaccaaCctgaggcgcctctacctgaa	8	9	10	14	2	2	2	1	2	2	0	4	3	2	3	4	3	2	1	4	3	3	2	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1374C>A	p.Asn458Lys	p.N458K	ENST00000325089	2/2	151	125	26	207	207	0	strelka-varscan-mutect	SLITRK5,missense_variant,p.Asn458Lys,ENST00000325089,NM_015567.1;	A	ENST00000325089	Transcript	missense_variant	1593/21103	1374/2877	458/958	N/K	aaC/aaA		1		1	SLITRK5	HGNC	HGNC:20295	protein_coding	YES	CCDS9465.1	ENSP00000366283	O94991		UPI000015F6F7	NM_015567.1	deleterious(0.01)		2/2		PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs1328526399	.												A	3	1	41	87676762	87676762	C	A	1	0	0	0	0	1	0	0	0	15037	506	18	2		2	SLITRK5	13	87676762	Missense_Mutation	SNP	C	C3N-00199_TP	3795959	87676762	26687566	216	11879											
CCDC168	0	.	GRCh38	chr13	102736665	102736665	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaccttcttgtgccttttCcccttgttgactgatgttca	4	18	6	13	0	3	2	2	2	1	0	4	2	4	2	4	0	1	2	4	0	0	7	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.14032G>T	p.Glu4678Ter	p.E4678*	ENST00000322527	4/4	50	37	13	169	169	0	strelka-varscan-mutect	CCDC168,stop_gained,p.Glu4678Ter,ENST00000322527,NM_001146197.1;	A	ENST00000322527	Transcript	stop_gained	14170/21466	14032/21246	4678/7081	E/*	Gaa/Taa		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1			4/4		Pfam_domain:PF15804,hmmpanther:PTHR35542,hmmpanther:PTHR35542:SF1																	HIGH	1	SNV	3			1										PASS		.	.												A	4	1	41	102736665	102736665	C	A	1	0	0	0	0	0	1	0	0	2484	864	30	2		2	CCDC168	13	102736665	Nonsense_Mutation	SNP	C	C3N-00199_TP	15059903	102736665	11627663	217	11880											
LRFN5	0	.	GRCh38	chr14	41887571	41887571	+	Missense_Mutation	SNP	C	C	A																															aagccaggggagaccctgagCctgcaattcactggatttct																								novel		C3N-00199_TP	C3N-00199_NB	C	C																c.946C>A	p.Pro316Thr	p.P316T	ENST00000298119	3/6	240	189	51	357	357	0	strelka-varscan-mutect	LRFN5,missense_variant,p.Pro316Thr,ENST00000554171,;LRFN5,missense_variant,p.Pro316Thr,ENST00000298119,NM_152447.3;LRFN5,missense_variant,p.Pro316Thr,ENST00000554120,;	A	ENST00000298119	Transcript	missense_variant	2135/3723	946/2160	316/719	P/T	Cct/Act		1		1	LRFN5	HGNC	HGNC:20360	protein_coding	YES	CCDS9678.1	ENSP00000298119	Q96NI6		UPI000000DA1E	NM_152447.3	deleterious(0)		3/6		PROSITE_profiles:PS50835,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	41887571	41887571	C	A	1	0	0	0	0	1	0	0	0	8835	739	26	2		2	LRFN5	14	41887571	Missense_Mutation	SNP	C	C3N-00199_TP		41887571	65156147	218	11881	269	2									
LRFN5	0	.	GRCh38	chr14	41887572	41887572	+	Missense_Mutation	SNP	C	C	A																															agccaggggagaccctgagcCtgcaattcactggatttctc																										C3N-00199_TP	C3N-00199_NB	C	C																c.947C>A	p.Pro316His	p.P316H	ENST00000298119	3/6	241	191	50	361	361	0	strelka-varscan-mutect	LRFN5,missense_variant,p.Pro316His,ENST00000554171,;LRFN5,missense_variant,p.Pro316His,ENST00000298119,NM_152447.3;LRFN5,missense_variant,p.Pro316His,ENST00000554120,;	A	ENST00000298119	Transcript	missense_variant	2136/3723	947/2160	316/719	P/H	cCt/cAt	COSM1515483	1		1	LRFN5	HGNC	HGNC:20360	protein_coding	YES	CCDS9678.1	ENSP00000298119	Q96NI6		UPI000000DA1E	NM_152447.3	deleterious(0)		3/6		PROSITE_profiles:PS50835,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		rs1232671885	.												A	3	1	41	41887572	41887572	C	A	1	0	0	0	0	1	0	0	0	8835	681	24	2		2	LRFN5	14	41887572	Missense_Mutation	SNP	C	C3N-00199_TP	1	41887572	65156146	219	11882	269	2									
KCNK10	0	.	GRCh38	chr14	88263229	88263229	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacgtctccagctcctggggGctcacacagacatgatcccg	9	7	10	15	2	2	2	1	1	1	1	5	2	4	2	3	2	2	2	3	2	1	0	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.375C>T	p.=	p.S125S	ENST00000319231	2/7	126	82	44	134	134	0	strelka-varscan-mutect	KCNK10,synonymous_variant,p.=,ENST00000340700,NM_021161.4;KCNK10,synonymous_variant,p.=,ENST00000319231,NM_138317.2;KCNK10,synonymous_variant,p.=,ENST00000312350,NM_138318.2;KCNK10,synonymous_variant,p.=,ENST00000556282,;	A	ENST00000319231	Transcript	synonymous_variant	826/2725	375/1632	125/543	S	agC/agT		1		-1	KCNK10	HGNC	HGNC:6273	protein_coding	YES	CCDS9881.1	ENSP00000312811	P57789		UPI000002A697	NM_138317.2			2/7		hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF32,Prints_domain:PR01499																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	41	88263229	88263229	G	A	1	0	0	0	0	0	0	0	1	7976	1194	42	3		3	KCNK10	14	88263229	Silent	SNP	G	C3N-00199_TP	46375657	88263229	18780489	220	11883											
SERPINA3	0	.	GRCh38	chr14	94614882	94614882	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttgtcaaagagcaactCagtctgctggacaggttcac	11	11	10	9	0	4	1	3	0	1	1	4	2	4	2	0	2	3	4	0	2	2	2			C3N-00199_TP	C3N-00199_NB	C	C																c.441C>A	p.=	p.L147L	ENST00000467132	2/5	363	293	70	344	344	0	strelka-varscan-mutect	SERPINA3,synonymous_variant,p.=,ENST00000467132,;SERPINA3,synonymous_variant,p.=,ENST00000393078,NM_001085.4;SERPINA3,synonymous_variant,p.=,ENST00000393080,;SERPINA3,synonymous_variant,p.=,ENST00000555820,;SERPINA3,upstream_gene_variant,,ENST00000482740,;SERPINA3,upstream_gene_variant,,ENST00000621603,;SERPINA3,intron_variant,,ENST00000556388,;SERPINA3,downstream_gene_variant,,ENST00000485588,;SERPINA3,synonymous_variant,p.=,ENST00000556968,;SERPINA3,3_prime_UTR_variant,,ENST00000553947,;	A	ENST00000467132	Transcript	synonymous_variant	1589/2660	441/1272	147/423	L	ctC/ctA	COSM699765	1		1	SERPINA3	HGNC	HGNC:16	protein_coding	YES	CCDS32150.1	ENSP00000450540	P01011	A0A024R6P0	UPI000012509B				2/5		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF145,SMART_domains:SM00093,Superfamily_domains:SSF56574											1						LOW		SNV	2		1	1										PASS		.	.												A	2	1	41	94614882	94614882	C	A	1	0	0	0	0	0	0	0	1	14366	813	29	2		2	SERPINA3	14	94614882	Silent	SNP	C	C3N-00199_TP	6351653	94614882	12428836	221	11884											
DIO3	0	.	GRCh38	chr14	101561727	101561727	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcctgggccgccgccgccgGgggcagcccgagcccgaagt	4	4	16	17	6	0	0	0	0	0	0	1	2	1	0	7	3	2	1	7	3	1	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.231G>T	p.=	p.R77R	ENST00000510508	1/1	289	226	63	208	208	0	strelka-varscan-mutect	DIO3,synonymous_variant,p.=,ENST00000510508,NM_001362.3;DIO3OS,upstream_gene_variant,,ENST00000554735,;DIO3OS,upstream_gene_variant,,ENST00000557661,;DIO3OS,upstream_gene_variant,,ENST00000555174,;DIO3OS,upstream_gene_variant,,ENST00000554441,;DIO3OS,upstream_gene_variant,,ENST00000554694,;DIO3OS,upstream_gene_variant,,ENST00000555882,;DIO3OS,upstream_gene_variant,,ENST00000557532,;DIO3OS,upstream_gene_variant,,ENST00000557109,;DIO3OS,upstream_gene_variant,,ENST00000553729,;DIO3OS,upstream_gene_variant,,ENST00000556266,;DIO3OS,upstream_gene_variant,,ENST00000408206,;	T	ENST00000510508	Transcript	synonymous_variant	377/2102	231/915	77/304	R	cgG/cgT		1		1	DIO3	HGNC	HGNC:2885	protein_coding	YES	CCDS41992.2	ENSP00000427336	P55073		UPI0001B1A4B2	NM_001362.3			1/1		Pfam_domain:PF00837,PIRSF_domain:PIRSF001330,PIRSF_domain:PIRSF500144,hmmpanther:PTHR11781,hmmpanther:PTHR11781:SF4																	LOW		SNV				1										PASS		rs1377981069	.												T	2	4	41	101561727	101561727	G	T	1	0	0	0	0	0	0	0	1	4331	1219	43	2		2	DIO3	14	101561727	Silent	SNP	G	C3N-00199_TP	6946845	101561727	5481991	222	11885											
TRPM1	0	.	GRCh38	chr15	31040294	31040294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtttcatagcgatctgctCgtcatgcttataggactggt	8	14	11	8	2	3	0	2	0	1	0	4	3	3	1	0	2	3	3	0	2	3	4			C3N-00199_TP	C3N-00199_NB	C	C																c.2191G>A	p.Glu731Lys	p.E731K	ENST00000542188	17/27	448	403	45	620	620	0	strelka-varscan-mutect	TRPM1,missense_variant,p.Glu731Lys,ENST00000542188,NM_001252020.1;TRPM1,missense_variant,p.Glu692Lys,ENST00000397795,NM_002420.5;TRPM1,missense_variant,p.Glu714Lys,ENST00000256552,NM_001252024.1;TRPM1,missense_variant,p.Glu615Lys,ENST00000558768,;TRPM1,missense_variant,p.Glu692Lys,ENST00000558445,;TRPM1,intron_variant,,ENST00000559177,;RP11-348B17.1,intron_variant,,ENST00000561299,;RP11-348B17.1,downstream_gene_variant,,ENST00000558755,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;	T	ENST00000542188	Transcript	missense_variant	2505/6004	2191/4929	731/1642	E/K	Gag/Aag	COSM5633045	1		-1	TRPM1	HGNC	HGNC:7146	protein_coding	YES	CCDS58347.1	ENSP00000437849	Q7Z4N2		UPI0001DBB3A9	NM_001252020.1	deleterious(0)		17/27		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13											1						MODERATE	1	SNV	1		1	1										PASS		rs1355796117	.												T	3	4	41	31040294	31040294	C	T	1	0	0	0	0	1	0	0	0	17091	893	31	1		1	TRPM1	15	31040294	Missense_Mutation	SNP	C	C3N-00199_TP		31040294	70950895	223	11886											
FMN1	0	.	GRCh38	chr15	32969288	32969288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctctgtctgtctggaCgcacacatttctgaaggtct	6	14	10	11	1	6	1	0	1	6	0	7	2	6	2	0	3	0	1	0	3	1	1	rs770280947		C3N-00199_TP	C3N-00199_NB	C	C																c.2413G>T	p.Val805Phe	p.V805F	ENST00000616417	8/21	160	142	18	301	300	1	strelka-varscan-mutect	FMN1,missense_variant,p.Val805Phe,ENST00000616417,NM_001277313.1;FMN1,missense_variant,p.Val582Phe,ENST00000334528,NM_001103184.3;FMN1,missense_variant,p.Val805Phe,ENST00000559047,;FMN1,missense_variant,p.Val707Phe,ENST00000561249,;SNORD77,upstream_gene_variant,,ENST00000391113,;	A	ENST00000616417	Transcript	missense_variant	2917/13529	2413/4260	805/1419	V/F	Gtc/Ttc	rs770280947	1		-1	FMN1	HGNC	HGNC:3768	protein_coding	YES	CCDS61581.1	ENSP00000479134	Q68DA7		UPI0001AE68B4	NM_001277313.1	deleterious(0)		8/21		hmmpanther:PTHR13037:SF11,hmmpanther:PTHR13037,Prints_domain:PR00828																	MODERATE	1	SNV	5			1										PASS		rs770280947	.												A	3	1	41	32969288	32969288	C	A	1	0	0	0	0	1	0	0	0	5805	536	19	1		1	FMN1	15	32969288	Missense_Mutation	SNP	C	C3N-00199_TP	1928994	32969288	69021901	224	11887											
FAM98B	0	.	GRCh38	chr15	38464075	38464075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcaagcccttacaaaggcgGcagagggtggattatcttca	12	8	12	9	1	2	1	1	0	1	1	2	2	2	2	1	4	3	2	1	4	4	3	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.115G>T	p.Ala39Ser	p.A39S	ENST00000397609	2/8	55	50	5	178	178	0	strelka-mutect	FAM98B,missense_variant,p.Ala39Ser,ENST00000397609,NM_173611.3;FAM98B,missense_variant,p.Ala39Ser,ENST00000491535,;FAM98B,upstream_gene_variant,,ENST00000559431,;FAM98B,upstream_gene_variant,,ENST00000305752,;AC109631.1,upstream_gene_variant,,ENST00000559695,;	T	ENST00000397609	Transcript	missense_variant	150/4388	115/1302	39/433	A/S	Gca/Tca		1		1	FAM98B	HGNC	HGNC:26773	protein_coding	YES	CCDS10047.2	ENSP00000380734	Q52LJ0		UPI0000DA182F	NM_173611.3	tolerated(0.05)		2/8		hmmpanther:PTHR31353,hmmpanther:PTHR31353:SF11,Pfam_domain:PF10239																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	41	38464075	38464075	G	T	1	0	0	0	0	1	0	0	0	5515	1203	42	2		2	FAM98B	15	38464075	Missense_Mutation	SNP	G	C3N-00199_TP	5494787	38464075	63527114	225	11888											
RASGRP1	0	.	GRCh38	chr15	38512895	38512895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttgcacagagcaatagatCgctccatggtggggttttcc	8	11	12	10	2	0	2	0	0	0	2	3	2	2	2	2	3	2	5	2	3	2	4			C3N-00199_TP	C3N-00199_NB	C	C																c.737G>A	p.Arg246Gln	p.R246Q	ENST00000310803	7/17	118	108	10	153	153	0	strelka-varscan-mutect	RASGRP1,missense_variant,p.Arg246Gln,ENST00000310803,NM_005739.3;RASGRP1,missense_variant,p.Arg246Gln,ENST00000539159,;RASGRP1,missense_variant,p.Arg260Gln,ENST00000558432,;RASGRP1,missense_variant,p.Arg297Gln,ENST00000561180,;RASGRP1,missense_variant,p.Arg246Gln,ENST00000450598,NM_001128602.1;RASGRP1,missense_variant,p.Arg246Gln,ENST00000559830,NM_001306086.1;RASGRP1,missense_variant,p.Arg246Gln,ENST00000558164,;RASGRP1,missense_variant,p.Arg246Gln,ENST00000414708,;RASGRP1,upstream_gene_variant,,ENST00000560425,;	T	ENST00000310803	Transcript	missense_variant	915/5023	737/2394	246/797	R/Q	cGa/cAa	COSM215604	1		-1	RASGRP1	HGNC	HGNC:9878	protein_coding	YES	CCDS45222.1	ENSP00000310244	O95267		UPI000006FE1C	NM_005739.3	deleterious(0)		7/17		Superfamily_domains:0041591,Gene3D:2ii0A02,Pfam_domain:PF00617,PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF174,SMART_domains:SM00147											1						MODERATE	1	SNV	1		1	1										PASS		rs1330653682	.												T	3	4	41	38512895	38512895	C	T	1	0	0	0	0	1	0	0	0	13235	884	31	1		1	RASGRP1	15	38512895	Missense_Mutation	SNP	C	C3N-00199_TP	48820	38512895	63478294	226	11889											
SLC28A2	0	.	GRCh38	chr15	45263994	45263994	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgttcatccttatccTctttgcctgctccaaacacc	7	14	4	16	0	2	0	1	0	1	0	5	0	5	0	5	0	4	3	5	0	2	3	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.560T>A	p.Leu187His	p.L187H	ENST00000347644	6/18	51	45	6	102	102	0	strelka-varscan-mutect	SLC28A2,missense_variant,p.Leu187His,ENST00000347644,NM_004212.3;SLC28A2,missense_variant,p.Leu175His,ENST00000560438,;CTD-2651B20.3,intron_variant,,ENST00000560344,;CTD-2651B20.3,intron_variant,,ENST00000561404,;SLC28A2,intron_variant,,ENST00000559924,;	A	ENST00000347644	Transcript	missense_variant	625/4374	560/1977	187/658	L/H	cTc/cAc		1		1	SLC28A2	HGNC	HGNC:11002	protein_coding	YES	CCDS10121.1	ENSP00000315006	O43868		UPI000013D0D5	NM_004212.3	deleterious(0)		6/18		Pfam_domain:PF01773,hmmpanther:PTHR10590,hmmpanther:PTHR10590:SF11,TIGRFAM_domain:TIGR00804,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1023142556	.												A	3	1	41	45263994	45263994	T	A	1	0	0	0	0	1	0	0	0	14802	1551	54	4		4	SLC28A2	15	45263994	Missense_Mutation	SNP	T	C3N-00199_TP	6751099	45263994	56727195	227	11890											
ATP8B4	0	.	GRCh38	chr15	49862366	49862366	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acttctgggtcagggaatgtCgtgcattacctatcaatcat	10	13	9	9	1	4	0	3	0	1	0	5	1	4	1	1	2	2	1	1	2	4	3	rs146911077		C3N-00199_TP	C3N-00199_NB	C	C																c.3176G>C	p.Arg1059Pro	p.R1059P	ENST00000284509	27/28	34	28	6	86	86	0	strelka-mutect	ATP8B4,missense_variant,p.Arg1059Pro,ENST00000284509,NM_024837.3;ATP8B4,missense_variant,p.Arg1059Pro,ENST00000559829,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000558498,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000560479,;ATP8B4,3_prime_UTR_variant,,ENST00000559726,;ATP8B4,3_prime_UTR_variant,,ENST00000558906,;ATP8B4,3_prime_UTR_variant,,ENST00000557955,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000558203,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000560354,;	G	ENST00000284509	Transcript	missense_variant	3318/5676	3176/3579	1059/1192	R/P	cGa/cCa	rs146911077	1		-1	ATP8B4	HGNC	HGNC:13536	protein_coding	YES	CCDS32238.1	ENSP00000284509	Q8TF62		UPI0000055904	NM_024837.3	tolerated(0.13)		27/28		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF80,Pfam_domain:PF16212,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473																	MODERATE	1	SNV	5			1										PASS		rs146911077	.												G	3	3	41	49862366	49862366	C	G	1	0	0	0	0	1	0	0	0	1350	884	31	4		4	ATP8B4	15	49862366	Missense_Mutation	SNP	C	C3N-00199_TP	4598372	49862366	52128823	228	11891											
NTRK3	0	.	GRCh38	chr15	87929286	87929286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcagttcctggtggccaGgtctcggtgcacaaagtgct	7	9	14	11	1	1	0	0	0	1	0	3	0	2	0	2	5	2	4	2	5	1	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.2038C>A	p.Leu680Met	p.L680M	ENST00000360948	17/20	344	301	43	476	476	0	strelka-varscan-mutect	NTRK3,missense_variant,p.Leu680Met,ENST00000394480,NM_002530.3;NTRK3,missense_variant,p.Leu672Met,ENST00000558676,;NTRK3,missense_variant,p.Leu680Met,ENST00000360948,NM_001012338.2;NTRK3,missense_variant,p.Leu672Met,ENST00000357724,;NTRK3,missense_variant,p.Leu672Met,ENST00000355254,NM_001243101.1;NTRK3,missense_variant,p.Leu680Met,ENST00000626019,;NTRK3,missense_variant,p.Leu680Met,ENST00000629765,;NTRK3,missense_variant,p.Leu672Met,ENST00000557856,;NTRK3,missense_variant,p.Leu582Met,ENST00000542733,NM_001320135.1;NTRK3,missense_variant,p.Leu77Met,ENST00000558576,;NTRK3,downstream_gene_variant,,ENST00000559680,;	T	ENST00000360948	Transcript	missense_variant	2344/3004	2038/2520	680/839	L/M	Ctg/Atg		1		-1	NTRK3	HGNC	HGNC:8033	protein_coding	YES	CCDS32322.1	ENSP00000354207	Q16288	X5D2R1	UPI000006DC82	NM_001012338.2	tolerated(0.08)		17/20		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_patterns:PS00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF66,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	41	87929286	87929286	G	T	1	0	0	0	0	1	0	0	0	10774	991	35	2		2	NTRK3	15	87929286	Missense_Mutation	SNP	G	C3N-00199_TP	38066920	87929286	14061903	229	11892											
TICRR	0	.	GRCh38	chr15	89575850	89575850	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaggctcgaggatcgcgcCcacctgcccggcccggcgcc	4	3	14	20	6	0	0	0	0	0	0	2	2	0	1	6	4	1	1	6	4	0	0	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.264C>A	p.=	p.A88A	ENST00000268138	1/22	201	173	28	244	243	1	strelka-varscan-mutect	TICRR,synonymous_variant,p.=,ENST00000268138,NM_152259.3;TICRR,synonymous_variant,p.=,ENST00000560985,NM_001308025.1;RP11-429B14.1,intron_variant,,ENST00000559041,;RP11-429B14.3,downstream_gene_variant,,ENST00000560477,;	A	ENST00000268138	Transcript	synonymous_variant	369/6775	264/5733	88/1910	A	gcC/gcA		1		1	TICRR	HGNC	HGNC:28704	protein_coding	YES	CCDS10352.2	ENSP00000268138	Q7Z2Z1		UPI0000D61399	NM_152259.3			1/22		Low_complexity_(Seg):seg,hmmpanther:PTHR21556																	LOW		SNV	5			1										PASS		.	.												A	2	1	41	89575850	89575850	C	A	1	0	0	0	0	0	0	0	1	16328	610	22	2		2	TICRR	15	89575850	Silent	SNP	C	C3N-00199_TP	1646564	89575850	12415339	230	11893											
MESP2	0	.	GRCh38	chr15	89777239	89777239	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggaacccaccagtgccctgGacggcggccccagcaacttt	8	5	11	17	3	0	0	0	0	0	0	0	2	0	2	5	4	4	1	5	4	2	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.882G>A	p.Trp294Ter	p.W294*	ENST00000341735	1/2	80	70	10	115	115	0	strelka-varscan-mutect	MESP2,stop_gained,p.Trp294Ter,ENST00000341735,NM_001039958.1;MESP2,intron_variant,,ENST00000560219,;MESP2,intron_variant,,ENST00000558723,;	A	ENST00000341735	Transcript	stop_gained	882/1552	882/1194	294/397	W/*	tgG/tgA		1		1	MESP2	HGNC	HGNC:29659	protein_coding	YES	CCDS42078.1	ENSP00000342392	Q0VG99		UPI00006E232B	NM_001039958.1			1/2		hmmpanther:PTHR20937,hmmpanther:PTHR20937:SF6																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	41	89777239	89777239	G	A	1	0	0	0	0	0	1	0	0	9428	1183	41	3		3	MESP2	15	89777239	Nonsense_Mutation	SNP	G	C3N-00199_TP	201389	89777239	12213950	231	11894											
NPRL3	0	.	GRCh38	chr16	86759	86759	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcctcgtgggtggtcacCaccagcacgctgcggaactt	6	8	14	13	3	1	0	1	0	0	0	3	1	2	1	3	4	3	2	3	4	1	1	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1656G>A	p.=	p.V552V	ENST00000620134	14/15	321	181	140	219	219	0	strelka-varscan-mutect	NPRL3,synonymous_variant,p.=,ENST00000620134,;NPRL3,synonymous_variant,p.=,ENST00000611875,NM_001077350.2,NM_001243247.1;NPRL3,synonymous_variant,p.=,ENST00000399953,NM_001243248.1,NM_001039476.2,NM_001243249.1;MPG,downstream_gene_variant,,ENST00000356432,NM_001015052.2;MPG,downstream_gene_variant,,ENST00000219431,NM_002434.3;MPG,downstream_gene_variant,,ENST00000397817,NM_001015054.2;MPG,downstream_gene_variant,,ENST00000436333,;Z69720.2,upstream_gene_variant,,ENST00000601483,;NPRL3,3_prime_UTR_variant,,ENST00000622194,;NPRL3,3_prime_UTR_variant,,ENST00000621703,;NPRL3,non_coding_transcript_exon_variant,,ENST00000610509,;	T	ENST00000620134	Transcript	synonymous_variant	1942/3203	1656/1710	552/569	V	gtG/gtA		1		-1	NPRL3	HGNC	HGNC:14124	protein_coding	YES	CCDS73795.1	ENSP00000483814	Q12980		UPI000013790E				14/15		hmmpanther:PTHR13153																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	41	86759	86759	C	T	1	0	0	0	0	0	0	0	1	10654	581	21	3		3	NPRL3	16	86759	Silent	SNP	C	C3N-00199_TP		86759	90251586	232	11895											
FLYWCH1	0	.	GRCh38	chr16	2930733	2930733	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccgagtggaggagcccctgGagggggtgggcccgtggcag	5	4	22	10	2	0	0	0	0	0	0	0	4	0	3	4	7	1	1	4	7	0	0	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.649G>C	p.Glu217Gln	p.E217Q	ENST00000253928	4/10	350	283	67	230	230	0	strelka-varscan-mutect	FLYWCH1,missense_variant,p.Glu217Gln,ENST00000253928,NM_001308068.1;FLYWCH1,missense_variant,p.Glu216Gln,ENST00000416288,NM_032296.2,NM_020912.1;FLYWCH1,upstream_gene_variant,,ENST00000344592,;FLYWCH1,upstream_gene_variant,,ENST00000573564,;FLYWCH1,downstream_gene_variant,,ENST00000570425,;FLYWCH1,downstream_gene_variant,,ENST00000573525,;FLYWCH1,upstream_gene_variant,,ENST00000571580,;FLYWCH1,upstream_gene_variant,,ENST00000570752,;FLYWCH1,upstream_gene_variant,,ENST00000575604,;	C	ENST00000253928	Transcript	missense_variant	1054/5037	649/2151	217/716	E/Q	Gag/Cag		1		1	FLYWCH1	HGNC	HGNC:25404	protein_coding	YES	CCDS76809.1	ENSP00000253928	Q4VC44		UPI000013CE05	NM_001308068.1	tolerated_low_confidence(0.07)		4/10		Low_complexity_(Seg):seg,hmmpanther:PTHR31665,hmmpanther:PTHR31665:SF3																	MODERATE	1	SNV	1			1										PASS		rs1260074383	.												C	3	2	41	2930733	2930733	G	C	1	0	0	0	0	1	0	0	0	5803	1175	41	4		4	FLYWCH1	16	2930733	Missense_Mutation	SNP	G	C3N-00199_TP	2843974	2930733	87407612	233	11896											
ATP2A1	0	.	GRCh38	chr16	28903132	28903132	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacttcctcatcctctaTgttgaccccctgccggtgag	5	12	8	16	1	2	2	1	2	1	0	4	2	4	2	5	1	2	2	5	1	1	3	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.2847T>C	p.=	p.Y949Y	ENST00000357084	20/22	663	539	124	474	474	0	strelka-varscan-mutect	ATP2A1,synonymous_variant,p.=,ENST00000395503,NM_004320.4;ATP2A1,synonymous_variant,p.=,ENST00000357084,NM_173201.3;ATP2A1,synonymous_variant,p.=,ENST00000536376,NM_001286075.1;RABEP2,downstream_gene_variant,,ENST00000358201,NM_024816.2;RABEP2,downstream_gene_variant,,ENST00000357573,;RABEP2,downstream_gene_variant,,ENST00000544477,;ATP2A1,upstream_gene_variant,,ENST00000564112,;ATP2A1,downstream_gene_variant,,ENST00000564732,;	C	ENST00000357084	Transcript	synonymous_variant	3114/3532	2847/3006	949/1001	Y	taT/taC		1		1	ATP2A1	HGNC	HGNC:811	protein_coding	YES	CCDS10643.1	ENSP00000349595	O14983		UPI000003B461	NM_173201.3			20/22		Superfamily_domains:0049473,Gene3D:1.20.1110.10,Pfam_domain:PF00689,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF335,Transmembrane_helices:TMhelix																	LOW		SNV	2			1										PASS		.	.												C	2	2	41	28903132	28903132	T	C	1	0	0	0	0	0	0	0	1	1289	1471	51	5		5	ATP2A1	16	28903132	Silent	SNP	T	C3N-00199_TP	25972399	28903132	61435213	234	11897											
CD19	0	.	GRCh38	chr16	28933240	28933240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccctgtcccagacctcaCcatggcccctggctccacac	6	8	6	21	0	2	1	1	0	1	1	5	1	4	1	7	2	0	1	7	2	0	0	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.566C>A	p.Thr189Asn	p.T189N	ENST00000538922	4/15	613	500	113	420	420	0	strelka-varscan-mutect	CD19,missense_variant,p.Thr189Asn,ENST00000538922,NM_001178098.1;CD19,missense_variant,p.Thr189Asn,ENST00000324662,NM_001770.5;CD19,missense_variant,p.Thr189Asn,ENST00000567541,;RABEP2,intron_variant,,ENST00000566762,;CD19,non_coding_transcript_exon_variant,,ENST00000565089,;CD19,non_coding_transcript_exon_variant,,ENST00000566890,;CD19,upstream_gene_variant,,ENST00000567368,;	A	ENST00000538922	Transcript	missense_variant	628/1957	566/1674	189/557	T/N	aCc/aAc		1		1	CD19	HGNC	HGNC:1633	protein_coding	YES	CCDS53998.1	ENSP00000437940	P15391		UPI0000E02929	NM_001178098.1	deleterious(0.04)		4/15		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR16674,hmmpanther:PTHR16674:SF2,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	41	28933240	28933240	C	A	1	0	0	0	0	1	0	0	0	2676	507	18	2		2	CD19	16	28933240	Missense_Mutation	SNP	C	C3N-00199_TP	30108	28933240	61405105	235	11898											
FAM57B	0	.	GRCh38	chr16	30025666	30025666	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttggcagcaaccttgaaGgtccctccccttcctgtgac	6	10	8	17	0	0	2	0	2	0	0	3	2	3	2	6	2	2	2	6	2	2	3	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.450C>A	p.=	p.T150T	ENST00000564806	3/3	520	456	64	342	342	0	strelka-varscan-mutect	FAM57B,synonymous_variant,p.=,ENST00000564806,;FAM57B,intron_variant,,ENST00000380495,NM_031478.4;FAM57B,intron_variant,,ENST00000279389,NM_001318504.1;C16orf92,intron_variant,,ENST00000569198,;C16orf92,intron_variant,,ENST00000567847,;FAM57B,downstream_gene_variant,,ENST00000561666,;C16orf92,downstream_gene_variant,,ENST00000300575,NM_001109659.1,NM_001109660.1;DOC2A,upstream_gene_variant,,ENST00000574405,;DOC2A,upstream_gene_variant,,ENST00000567824,;DOC2A,upstream_gene_variant,,ENST00000572637,;DOC2A,upstream_gene_variant,,ENST00000570194,;DOC2A,upstream_gene_variant,,ENST00000564075,;FAM57B,downstream_gene_variant,,ENST00000569508,;C16orf92,downstream_gene_variant,,ENST00000561910,;	T	ENST00000564806	Transcript	synonymous_variant	496/1710	450/513	150/170	T	acC/acA		1		-1	FAM57B	HGNC	HGNC:25295	protein_coding			ENSP00000457769		H3BUS2	UPI0002466F9E				3/3		PROSITE_profiles:PS50922																	LOW		SNV	2			1										PASS		.	.												T	2	4	41	30025666	30025666	G	T	1	0	0	0	0	0	0	0	1	5459	987	35	2		2	FAM57B	16	30025666	Silent	SNP	G	C3N-00199_TP	1092426	30025666	60312679	236	11899											
ITGAM	0	.	GRCh38	chr16	31324668	31324668	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaattgcatcgaggacccAgtgagccccattgtgctgcg	9	9	12	11	2	0	2	0	1	0	1	1	4	0	3	3	1	4	2	3	1	2	3	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.2178A>T	p.=	p.P726P	ENST00000544665	18/30	80	49	31	66	66	0	strelka-varscan-mutect	ITGAM,synonymous_variant,p.=,ENST00000544665,NM_001145808.1;ITGAM,synonymous_variant,p.=,ENST00000287497,NM_000632.3;ITGAM,downstream_gene_variant,,ENST00000567031,;ITGAM,upstream_gene_variant,,ENST00000561838,;ITGAM,upstream_gene_variant,,ENST00000569746,;ITGAM,upstream_gene_variant,,ENST00000567178,;	T	ENST00000544665	Transcript	synonymous_variant	2249/4718	2178/3462	726/1153	P	ccA/ccT		1		1	ITGAM	HGNC	HGNC:6149	protein_coding	YES	CCDS54004.1	ENSP00000441691	P11215		UPI000004B26A	NM_001145808.1			18/30		Gene3D:1jv2A02,Pfam_domain:PF08441,Prints_domain:PR01185,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Superfamily_domains:SSF69179																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	41	31324668	31324668	A	T	1	0	0	0	0	0	0	0	1	7794	175	7	4		4	ITGAM	16	31324668	Silent	SNP	A	C3N-00199_TP	1299002	31324668	59013677	237	11900											
TP53	0	.	GRCh38	chr17	7674292	7674292	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtacagtcagagccaaccTaggagataacacaggcccaa	15	5	10	11	0	1	2	1	0	0	2	1	3	1	2	3	3	4	1	3	3	5	3			C3N-00199_TP	C3N-00199_NB	T	T																c.673-2A>G		p.X225_splice	ENST00000269305		342	224	118	373	373	0	strelka-varscan-mutect	TP53,splice_acceptor_variant,,ENST00000617185,NM_001126114.2;TP53,splice_acceptor_variant,,ENST00000420246,;TP53,splice_acceptor_variant,,ENST00000622645,NM_001276696.1;TP53,splice_acceptor_variant,,ENST00000610292,NM_001126118.1;TP53,splice_acceptor_variant,,ENST00000455263,NM_001126113.2;TP53,splice_acceptor_variant,,ENST00000610538,NM_001276695.1;TP53,splice_acceptor_variant,,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,splice_acceptor_variant,,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000619485,;TP53,splice_acceptor_variant,,ENST00000510385,NM_001126116.1;TP53,splice_acceptor_variant,,ENST00000618944,NM_001276698.1;TP53,splice_acceptor_variant,,ENST00000504290,NM_001126117.1;TP53,splice_acceptor_variant,,ENST00000610623,NM_001276699.1;TP53,splice_acceptor_variant,,ENST00000504937,NM_001126115.1;TP53,splice_acceptor_variant,,ENST00000619186,NM_001276697.1;TP53,splice_acceptor_variant,,ENST00000359597,;TP53,splice_acceptor_variant,,ENST00000615910,;TP53,splice_acceptor_variant,,ENST00000413465,;TP53,splice_acceptor_variant,,ENST00000509690,;TP53,splice_acceptor_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,splice_acceptor_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	C	ENST00000269305	Transcript	splice_acceptor_variant	-/2579	673/1182	225/393			CS109519,TP53_g.13308A>G,TP53_g.13308A>T,TP53_g.13308A>C,COSM12559,COSM25225,COSM2744671,COSM323937,COSM323938,COSM323939,COSM33649,COSM41575,COSM4271842,COSM6908,COSM98015	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5				6/10												0,0,0,0,1,1,1,1,1,1,1,1,1,1,1						HIGH	1	SNV	1		1,0,0,0,1,1,1,1,1,1,1,1,1,1,1	1										PASS		.	.												C	5	2	41	7674292	7674292	T	C	1	0	0	0	0	0	0	1	0	16859	1536	53	5		5	TP53	17	7674292	Splice_Site	SNP	T	C3N-00199_TP		7674292	75583149	238	11901											
MYH8	0	.	GRCh38	chr17	10400721	10400721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagagcgctgcttctccGctttggctcgggacgccctc	3	10	13	15	4	2	1	1	0	1	1	5	2	2	2	2	3	2	4	2	3	0	2	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.3404C>T	p.Ala1135Val	p.A1135V	ENST00000403437	27/40	286	163	123	313	313	0	strelka-varscan-mutect	MYH8,missense_variant,p.Ala1135Val,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000403437	Transcript	missense_variant	3499/6041	3404/5814	1135/1937	A/V	gCg/gTg		1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2	tolerated(1)		27/40		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF368,hmmpanther:PTHR13140,Pfam_domain:PF01576																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	41	10400721	10400721	G	A	1	0	0	0	0	1	0	0	0	10041	1087	38	1		1	MYH8	17	10400721	Missense_Mutation	SNP	G	C3N-00199_TP	2726429	10400721	72856720	239	11902											
TMEM11	0	.	GRCh38	chr17	21198678	21198678	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggcagttgcccacggtGatccagcgggctgtctcgtc	5	9	14	13	3	1	1	0	1	1	0	4	1	2	1	2	3	3	4	2	3	0	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.225C>T	p.=	p.I75I	ENST00000317635	2/2	194	135	59	211	211	0	strelka-varscan-mutect	TMEM11,synonymous_variant,p.=,ENST00000317635,NM_003876.2;TMEM11,non_coding_transcript_exon_variant,,ENST00000584432,;TMEM11,non_coding_transcript_exon_variant,,ENST00000577419,;TMEM11,non_coding_transcript_exon_variant,,ENST00000584732,;TMEM11,non_coding_transcript_exon_variant,,ENST00000583929,;TMEM11,non_coding_transcript_exon_variant,,ENST00000583264,;	A	ENST00000317635	Transcript	synonymous_variant	697/2095	225/579	75/192	I	atC/atT		1		-1	TMEM11	HGNC	HGNC:16823	protein_coding	YES	CCDS11216.1	ENSP00000319992	P17152		UPI0000131C88	NM_003876.2			2/2		Pfam_domain:PF14972,hmmpanther:PTHR15099,hmmpanther:PTHR15099:SF2																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	41	21198678	21198678	G	A	1	0	0	0	0	0	0	0	1	16470	1280	45	3		3	TMEM11	17	21198678	Silent	SNP	G	C3N-00199_TP	10797957	21198678	62058763	240	11903											
UNC119	0	.	GRCh38	chr17	28547830	28547830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttgttgacaggcttgtCtcccactgtgaactccaccc	8	11	9	13	0	1	2	0	2	1	0	3	3	2	2	3	1	1	3	3	1	2	3	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.457G>T	p.Asp153Tyr	p.D153Y	ENST00000335765	4/5	118	84	34	158	158	0	strelka-varscan-mutect	UNC119,missense_variant,p.Asp58Tyr,ENST00000484980,;UNC119,missense_variant,p.Asp58Tyr,ENST00000470125,;UNC119,missense_variant,p.Asp153Tyr,ENST00000301032,NM_054035.2;UNC119,missense_variant,p.Asp153Tyr,ENST00000335765,NM_005148.3;UNC119,missense_variant,p.Asp146Tyr,ENST00000444148,;UNC119,missense_variant,p.Glu78Asp,ENST00000581945,;UNC119,non_coding_transcript_exon_variant,,ENST00000487844,;RP11-192H23.4,intron_variant,,ENST00000481916,;UNC119,downstream_gene_variant,,ENST00000578434,;	A	ENST00000335765	Transcript	missense_variant	568/1424	457/723	153/240	D/Y	Gac/Tac		1		-1	UNC119	HGNC	HGNC:12565	protein_coding	YES	CCDS11233.1	ENSP00000337040	Q13432		UPI00000012A7	NM_005148.3	deleterious(0)		4/5		hmmpanther:PTHR12951:SF2,hmmpanther:PTHR12951,Gene3D:1kshB00,Pfam_domain:PF05351,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	28547830	28547830	C	A	1	0	0	0	0	1	0	0	0	17506	913	32	2		2	UNC119	17	28547830	Missense_Mutation	SNP	C	C3N-00199_TP	7349152	28547830	54709611	241	11904											
TMEM132E	0	.	GRCh38	chr17	34632820	34632820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccctggaaatgacagtctgGgtccccaagctgcccttgca	8	8	10	15	0	1	1	0	1	1	0	2	2	2	2	5	2	3	2	5	2	2	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1329G>T	p.Trp443Cys	p.W443C	ENST00000321639	7/10	573	523	50	646	644	2	strelka-varscan-mutect	TMEM132E,missense_variant,p.Trp533Cys,ENST00000631683,NM_001304438.1;TMEM132E,missense_variant,p.Trp443Cys,ENST00000321639,;TMEM132E,upstream_gene_variant,,ENST00000577271,;	T	ENST00000321639	Transcript	missense_variant	1657/4369	1329/2955	443/984	W/C	tgG/tgT		1		1	TMEM132E	HGNC	HGNC:26991	protein_coding	YES		ENSP00000316532	Q6IEE7		UPI000035960F		deleterious(0)		7/10		Pfam_domain:PF16070,hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF7																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	41	34632820	34632820	G	T	1	0	0	0	0	1	0	0	0	16493	1241	43	2		2	TMEM132E	17	34632820	Missense_Mutation	SNP	G	C3N-00199_TP	6084990	34632820	48624621	242	11905											
UNC45B	0	.	GRCh38	chr17	35186446	35186446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgagctgctggagatcCtgactgtggtgggcaaacag	10	8	16	7	0	0	4	0	2	0	2	1	5	1	4	1	3	3	3	1	3	1	0			C3N-00199_TP	C3N-00199_NB	C	C																c.2683C>A	p.Leu895Met	p.L895M	ENST00000268876	20/20	444	326	118	557	557	0	strelka-varscan-mutect	UNC45B,missense_variant,p.Leu895Met,ENST00000268876,NM_173167.2;UNC45B,missense_variant,p.Leu893Met,ENST00000394570,NM_001267052.1,NM_001033576.1;UNC45B,missense_variant,p.Leu814Met,ENST00000591048,NM_001308281.1;RP11-799D4.2,upstream_gene_variant,,ENST00000590144,;RP11-799D4.1,upstream_gene_variant,,ENST00000592961,;	A	ENST00000268876	Transcript	missense_variant	2780/5679	2683/2796	895/931	L/M	Ctg/Atg	COSM3516200	1		1	UNC45B	HGNC	HGNC:14304	protein_coding	YES	CCDS11292.1	ENSP00000268876	Q8IWX7		UPI0000074455	NM_173167.2	deleterious(0.03)		20/20		Gene3D:1.25.10.10,Superfamily_domains:SSF48371											1						MODERATE		SNV	5		1	1										PASS		.	.												A	3	1	41	35186446	35186446	C	A	1	0	0	0	0	1	0	0	0	17513	680	24	2		2	UNC45B	17	35186446	Missense_Mutation	SNP	C	C3N-00199_TP	553626	35186446	48070995	243	11906											
LHX1	0	.	GRCh38	chr17	36942974	36942974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacccacccggggactcgcCcagccccgagcccagcctgc	6	2	11	22	3	0	0	0	0	0	0	1	2	0	1	7	2	4	1	7	2	0	0	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1064C>A	p.Pro355His	p.P355H	ENST00000614239	5/5	223	159	64	218	217	1	strelka-varscan-mutect	LHX1,missense_variant,p.Pro355His,ENST00000614239,NM_005568.4;LHX1,intron_variant,,ENST00000621767,;RP11-445F12.2,intron_variant,,ENST00000614759,;LHX1,downstream_gene_variant,,ENST00000619939,;LHX1,downstream_gene_variant,,ENST00000616237,;	A	ENST00000614239	Transcript	missense_variant	1787/3425	1064/1221	355/406	P/H	cCc/cAc		1		1	LHX1	HGNC	HGNC:6593	protein_coding	YES	CCDS11316.1	ENSP00000477829	P48742		UPI000013CE37	NM_005568.4	deleterious(0)		5/5		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF106,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	36942974	36942974	C	A	1	0	0	0	0	1	0	0	0	8679	623	22	2		2	LHX1	17	36942974	Missense_Mutation	SNP	C	C3N-00199_TP	1756528	36942974	46314467	244	11907											
AARSD1	0	.	GRCh38	chr17	42955908	42955908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccacttcagcacccggttcCcagacagaaatatcaggttg	11	9	8	13	1	2	2	2	0	0	2	4	2	4	2	3	2	1	3	3	2	2	4	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1250G>T	p.Gly417Val	p.G417V	ENST00000421990	12/17	109	85	24	220	220	0	strelka-varscan-mutect	PTGES3L-AARSD1,missense_variant,p.Gly417Val,ENST00000421990,NM_001136042.2;PTGES3L-AARSD1,missense_variant,p.Gly417Val,ENST00000409399,;PTGES3L-AARSD1,missense_variant,p.Gly356Val,ENST00000360221,NM_025267.3;PTGES3L-AARSD1,missense_variant,p.Gly326Val,ENST00000409103,;AARSD1,missense_variant,p.Gly243Val,ENST00000427569,NM_001261434.1;AARSD1,missense_variant,p.Gly138Val,ENST00000430739,;AARSD1,downstream_gene_variant,,ENST00000416949,;AARSD1,missense_variant,p.Gly14Val,ENST00000591096,;AARSD1,3_prime_UTR_variant,,ENST00000450475,;PTGES3L-AARSD1,3_prime_UTR_variant,,ENST00000423601,;AARSD1,non_coding_transcript_exon_variant,,ENST00000441280,;AARSD1,non_coding_transcript_exon_variant,,ENST00000491665,;AARSD1,non_coding_transcript_exon_variant,,ENST00000486664,;AARSD1,non_coding_transcript_exon_variant,,ENST00000478040,;AARSD1,downstream_gene_variant,,ENST00000483774,;AARSD1,downstream_gene_variant,,ENST00000591910,;AARSD1,downstream_gene_variant,,ENST00000436545,;AARSD1,upstream_gene_variant,,ENST00000593123,;AARSD1,upstream_gene_variant,,ENST00000474578,;AARSD1,upstream_gene_variant,,ENST00000587023,;AARSD1,upstream_gene_variant,,ENST00000592136,;AARSD1,upstream_gene_variant,,ENST00000483535,;AARSD1,upstream_gene_variant,,ENST00000486493,;	A	ENST00000421990	Transcript	missense_variant	1596/2150	1250/1761	417/586	G/V	gGg/gTg		1		-1	PTGES3L-AARSD1	HGNC	HGNC:43946	protein_coding	YES	CCDS45691.1	ENSP00000409924	Q9BTE6		UPI0000D4E5DF	NM_001136042.2	deleterious(0)		12/17		PROSITE_profiles:PS50860,hmmpanther:PTHR11777																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	41	42955908	42955908	C	A	1	0	0	0	0	1	0	0	0	25	623	22	2		2	AARSD1	17	42955908	Missense_Mutation	SNP	C	C3N-00199_TP	6012934	42955908	40301533	245	11908											
ERN1	0	.	GRCh38	chr17	64049129	64049129	+	Frame_Shift_Del	DEL	C	C	-																															cctgccgctgcagggacttgCcaaaagggtggctgccctca																								novel		C3N-00199_TP	C3N-00199_NB	C	C																c.2327delG	p.Gly776AlafsTer33	p.G776Afs*33	ENST00000433197	18/22	87	61	26	70	70	0	sindel-varindel-pindel	ERN1,frameshift_variant,p.Gly776AlafsTer33,ENST00000433197,NM_001433.3;ERN1,downstream_gene_variant,,ENST00000583077,;	-	ENST00000433197	Transcript	frameshift_variant	2423/7876	2327/2934	776/977	G/X	gGc/gc		1		-1	ERN1	HGNC	HGNC:3449	protein_coding	YES	CCDS45762.1	ENSP00000401445	O75460		UPI0000201263	NM_001433.3			18/22		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR13954,hmmpanther:PTHR13954:SF7,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	41	64049129	64049129	C	-	1	0	1	0	1	0	0	0	0	5095	739	26	0		0	ERN1	17	64049129	Frame_Shift_Del	DEL	C	C3N-00199_TP	21093221	64049129	19208312	246	11909											
SLC25A10	0	.	GRCh38	chr17	81712476	81712476	+	Frame_Shift_Del	DEL	C	C	-																															gtacttcggggggctggcctCctgcggggccgcctgctgca																								novel		C3N-00199_TP	C3N-00199_NB	C	C																c.51delC	p.Cys18AlafsTer23	p.C18Afs*23	ENST00000545862	1/11	32	25	7	20	20	0	sindel-varindel-pindel	SLC25A10,frameshift_variant,p.Cys18AlafsTer23,ENST00000331531,NM_001270888.1;SLC25A10,frameshift_variant,p.Cys18AlafsTer23,ENST00000545862,NM_001270953.1;SLC25A10,frameshift_variant,p.Cys18AlafsTer23,ENST00000350690,NM_012140.4;RP13-1032I1.10,intron_variant,,ENST00000571730,;MRPL12,downstream_gene_variant,,ENST00000333676,NM_002949.3;SLC25A10,frameshift_variant,p.Cys18AlafsTer60,ENST00000574129,;SLC25A10,upstream_gene_variant,,ENST00000573246,;SLC25A10,upstream_gene_variant,,ENST00000574884,;SLC25A10,upstream_gene_variant,,ENST00000570310,;SLC25A10,upstream_gene_variant,,ENST00000571876,;	-	ENST00000545862	Transcript	frameshift_variant	241/1911	50/1221	17/406	S/X	tCc/tc		1		1	SLC25A10	HGNC	HGNC:10980	protein_coding	YES	CCDS74176.1	ENSP00000446242		F6RGN5	UPI00027A7714	NM_001270953.1			1/11		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF39																	HIGH		deletion	2	1		1										PASS		.	.												-	7	5	41	81712476	81712476	C	-	1	0	1	0	1	0	0	0	0	14737	855	30	0		0	SLC25A10	17	81712476	Frame_Shift_Del	DEL	C	C3N-00199_TP	17663347	81712476	1544965	247	11910											
NDUFV2	0	.	GRCh38	chr18	9122593	9122593	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtataatcgaaagccagtTggaaagtatcacattcaggt	15	11	9	6	1	2	0	2	0	0	0	3	2	2	1	1	2	1	3	1	2	5	5	rs76552443		C3N-00199_TP	C3N-00199_NB	T	T																c.381T>C	p.=	p.V127V	ENST00000318388	5/8	137	129	8	338	334	4	varscan-mutect	NDUFV2,synonymous_variant,p.=,ENST00000400033,;NDUFV2,synonymous_variant,p.=,ENST00000318388,NM_021074.4;NDUFV2-AS1,intron_variant,,ENST00000582375,;NDUFV2-AS1,intron_variant,,ENST00000583081,;RP11-21J18.1,non_coding_transcript_exon_variant,,ENST00000579126,;NDUFV2,non_coding_transcript_exon_variant,,ENST00000465096,;RP11-21J18.1,intron_variant,,ENST00000578850,;NDUFV2,downstream_gene_variant,,ENST00000483511,;NDUFV2,upstream_gene_variant,,ENST00000474740,;NDUFV2,downstream_gene_variant,,ENST00000583375,;NDUFV2,downstream_gene_variant,,ENST00000577703,;NDUFV2,downstream_gene_variant,,ENST00000474350,;	C	ENST00000318388	Transcript	synonymous_variant	495/930	381/750	127/249	V	gtT/gtC	rs76552443	1		1	NDUFV2	HGNC	HGNC:7717	protein_coding	YES	CCDS11842.1	ENSP00000327268	P19404		UPI0000052A59	NM_021074.4			5/8		Pfam_domain:PF01257,PIRSF_domain:PIRSF000216,hmmpanther:PTHR10371,hmmpanther:PTHR10371:SF3,Superfamily_domains:SSF52833,TIGRFAM_domain:TIGR01958																	LOW	1	SNV	1			1										PASS		rs76552443	.												C	2	2	41	9122593	9122593	T	C	1	0	0	0	0	0	0	0	1	10324	1799	63	5		5	NDUFV2	18	9122593	Silent	SNP	T	C3N-00199_TP		9122593	71250692	248	11911											
CTAGE1	0	.	GRCh38	chr18	22415593	22415593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcagaatgtgggggctgggGggaaaaatgcaggtcttggg	9	9	19	4	0	2	1	1	0	1	1	2	2	2	2	0	7	1	2	0	7	3	2			C3N-00199_TP	C3N-00199_NB	G	G																c.2219C>T	p.Pro740Leu	p.P740L	ENST00000391403	1/1	27	18	9	66	66	0	strelka-varscan-mutect	CTAGE1,missense_variant,p.Pro740Leu,ENST00000391403,NM_172241.2;CTAGE1,upstream_gene_variant,,ENST00000525417,;RP11-863N1.4,downstream_gene_variant,,ENST00000603437,;	A	ENST00000391403	Transcript	missense_variant	2323/4313	2219/2238	740/745	P/L	cCc/cTc	COSM708330,COSM708331	1		-1	CTAGE1	HGNC	HGNC:24346	protein_coding	YES	CCDS45837.1	ENSP00000375220	Q96RT6		UPI00000721F4	NM_172241.2	tolerated(0.09)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23158:SF39,hmmpanther:PTHR23158											1,1						MODERATE	1	SNV			1,1	1										PASS		.	.												A	3	1	41	22415593	22415593	G	A	1	0	0	0	0	1	0	0	0	3796	1232	43	3		3	CTAGE1	18	22415593	Missense_Mutation	SNP	G	C3N-00199_TP	13293000	22415593	57957692	249	11912											
LAMA3	0	.	GRCh38	chr18	23949813	23949813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcctgaagaactttcagctgGattcaaaacccttgtatacc	12	11	7	11	0	2	2	2	1	0	1	2	3	2	3	3	1	4	2	3	1	6	5	rs139393524		C3N-00199_TP	C3N-00199_NB	G	G																c.9400G>A	p.Asp3134Asn	p.D3134N	ENST00000313654	71/75	229	217	12	463	462	1	strelka-varscan-mutect	LAMA3,missense_variant,p.Asp3134Asn,ENST00000313654,NM_198129.2;LAMA3,missense_variant,p.Asp3078Asn,ENST00000399516,NM_001127717.2;LAMA3,missense_variant,p.Asp1525Asn,ENST00000269217,NM_000227.4;LAMA3,missense_variant,p.Asp1469Asn,ENST00000587184,NM_001127718.2;LAMA3,upstream_gene_variant,,ENST00000588004,;LAMA3,downstream_gene_variant,,ENST00000590104,;LAMA3,non_coding_transcript_exon_variant,,ENST00000588770,;	A	ENST00000313654	Transcript	missense_variant	9641/10661	9400/10002	3134/3333	D/N	Gat/Aat	rs139393524	1		1	LAMA3	HGNC	HGNC:6483	protein_coding	YES	CCDS42419.1	ENSP00000324532	Q16787		UPI000035154D	NM_198129.2	tolerated(1)		71/75		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF285,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs139393524	.												A	3	1	41	23949813	23949813	G	A	1	0	0	0	0	1	0	0	0	8511	1174	41	3		3	LAMA3	18	23949813	Missense_Mutation	SNP	G	C3N-00199_TP	1534220	23949813	56423472	250	11913											
ZNF521	0	.	GRCh38	chr18	25062720	25062720	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtacttgcactaactgcTgtgttgggtcattgtatgat	8	16	10	7	0	1	1	1	1	0	0	1	1	1	1	0	1	4	5	0	1	3	6	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.3928A>G	p.Ser1310Gly	p.S1310G	ENST00000361524	8/8	67	47	20	192	192	0	strelka-varscan-mutect	ZNF521,missense_variant,p.Ser1310Gly,ENST00000361524,NM_015461.2;ZNF521,missense_variant,p.Ser1090Gly,ENST00000584787,NM_001308225.1;ZNF521,missense_variant,p.Ser1310Gly,ENST00000538137,;ZNF521,3_prime_UTR_variant,,ENST00000399425,;	C	ENST00000361524	Transcript	missense_variant	4077/4871	3928/3936	1310/1311	S/G	Agc/Ggc		1		-1	ZNF521	HGNC	HGNC:24605	protein_coding	YES	CCDS32806.1	ENSP00000354794	Q96K83		UPI000006F982	NM_015461.2	tolerated_low_confidence(0.11)		8/8		PROSITE_profiles:PS50157																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	41	25062720	25062720	T	C	1	0	0	0	0	1	0	0	0	18537	1580	55	5		5	ZNF521	18	25062720	Missense_Mutation	SNP	T	C3N-00199_TP	1112907	25062720	55310565	251	11914											
SETBP1	0	.	GRCh38	chr18	44950207	44950207	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctgctcttgggaggtgtGgctccatccccaagcagcca	7	9	12	13	0	2	0	0	0	2	0	4	2	4	1	4	3	3	3	4	3	1	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.867G>T	p.=	p.V289V	ENST00000282030	4/6	271	150	121	306	306	0	strelka-varscan-mutect	SETBP1,synonymous_variant,p.=,ENST00000282030,NM_015559.2;	T	ENST00000282030	Transcript	synonymous_variant	1163/9899	867/4791	289/1596	V	gtG/gtT		1		1	SETBP1	HGNC	HGNC:15573	protein_coding	YES	CCDS11923.2	ENSP00000282030	Q9Y6X0		UPI0000201C54	NM_015559.2			4/6		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF342																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	41	44950207	44950207	G	T	1	0	0	0	0	0	0	0	1	14406	1335	47	2		2	SETBP1	18	44950207	Silent	SNP	G	C3N-00199_TP	19887487	44950207	35423078	252	11915											
NFATC1	0	.	GRCh38	chr18	79410549	79410549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccctcggggtacggagcaGctttggacggtgggcccgcg	5	6	17	13	5	0	0	0	0	0	0	1	2	0	2	3	6	3	3	3	6	1	2	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.274G>T	p.Ala92Ser	p.A92S	ENST00000427363	2/10	274	142	132	233	233	0	strelka-varscan-mutect	NFATC1,missense_variant,p.Ala92Ser,ENST00000591814,NM_172390.2;NFATC1,missense_variant,p.Ala92Ser,ENST00000253506,NM_006162.4;NFATC1,missense_variant,p.Ala79Ser,ENST00000329101,NM_172387.2;NFATC1,missense_variant,p.Ala79Ser,ENST00000318065,NM_172389.2;NFATC1,missense_variant,p.Ala92Ser,ENST00000427363,NM_001278669.1;NFATC1,missense_variant,p.Ala79Ser,ENST00000592223,NM_001278675.1;NFATC1,missense_variant,p.Ala92Ser,ENST00000587635,;NFATC1,missense_variant,p.Ala92Ser,ENST00000542384,NM_001278670.1;NFATC1,missense_variant,p.Ala79Ser,ENST00000586434,NM_001278672.1;NFATC1,intron_variant,,ENST00000545796,NM_001278673.1;NFATC1,intron_variant,,ENST00000397790,NM_172388.2;NFATC1,intron_variant,,ENST00000590313,;	T	ENST00000427363	Transcript	missense_variant	274/2832	274/2832	92/943	A/S	Gct/Tct		1		1	NFATC1	HGNC	HGNC:7775	protein_coding	YES	CCDS62467.1	ENSP00000389377	O95644		UPI000012FFB5	NM_001278669.1	tolerated(0.57)		2/10		hmmpanther:PTHR12533:SF5,hmmpanther:PTHR12533																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	79410549	79410549	G	T	1	0	0	0	0	1	0	0	0	10398	971	34	2		2	NFATC1	18	79410549	Missense_Mutation	SNP	G	C3N-00199_TP	34460342	79410549	962736	253	11916											
WIZ	0	.	GRCh38	chr19	15437131	15437131	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtcaaagttggccacTgtggagagaggacaggactg	10	7	16	8	0	1	1	1	0	0	1	1	5	1	4	2	5	0	1	2	5	1	1	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.206-2A>T		p.X69_splice	ENST00000263381		91	46	45	119	119	0	strelka-varscan-mutect	WIZ,splice_acceptor_variant,,ENST00000263381,NM_021241.2;WIZ,splice_acceptor_variant,,ENST00000596159,;WIZ,upstream_gene_variant,,ENST00000599910,;WIZ,upstream_gene_variant,,ENST00000599686,;WIZ,splice_acceptor_variant,,ENST00000595214,;	A	ENST00000263381	Transcript	splice_acceptor_variant	-/5695	206/2385	69/794				1		-1	WIZ	HGNC	HGNC:30917	protein_coding	YES	CCDS42516.1	ENSP00000263381	O95785		UPI000041F888	NM_021241.2				2/7																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	41	15437131	15437131	T	A	1	0	0	0	0	0	0	1	0	17931	1594	55	4		4	WIZ	19	15437131	Splice_Site	SNP	T	C3N-00199_TP		15437131	43180485	254	11917											
WDR88	0	.	GRCh38	chr19	33137780	33137780	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctatgactgcactgtgaAgctgtgggtaggtggccggc	6	10	15	10	1	0	2	0	2	0	0	1	2	1	2	2	4	2	3	2	4	3	2	novel		C3N-00199_TP	C3N-00199_NB	A	A																c.380A>T	p.Lys127Met	p.K127M	ENST00000355868	2/11	162	105	57	203	203	0	strelka-varscan-mutect	WDR88,missense_variant,p.Lys127Met,ENST00000361680,;WDR88,missense_variant,p.Lys127Met,ENST00000355868,NM_173479.3;WDR88,missense_variant,p.Lys127Met,ENST00000592765,;	T	ENST00000355868	Transcript	missense_variant	456/1718	380/1419	127/472	K/M	aAg/aTg		1		1	WDR88	HGNC	HGNC:26999	protein_coding	YES	CCDS12429.1	ENSP00000348129	Q6ZMY6		UPI0000456C8B	NM_173479.3	deleterious(0)		2/11		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF418,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998,Prints_domain:PR00320																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	41	33137780	33137780	A	T	1	0	0	0	0	1	0	0	0	17891	86	3	4		4	WDR88	19	33137780	Missense_Mutation	SNP	A	C3N-00199_TP	17700649	33137780	25479836	255	11918											
LRFN1	0	.	GRCh38	chr19	39308044	39308044	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtccaaggaccacctcCggctccgcggatgccgtctc	7	6	11	17	5	1	0	0	0	1	0	5	3	4	2	6	3	2	1	6	3	2	0	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1905G>C	p.=	p.P635P	ENST00000248668	2/2	68	42	26	70	70	0	strelka-varscan-mutect	LRFN1,synonymous_variant,p.=,ENST00000248668,NM_020862.1;	G	ENST00000248668	Transcript	synonymous_variant	1905/3381	1905/2316	635/771	P	ccG/ccC		1		-1	LRFN1	HGNC	HGNC:29290	protein_coding	YES	CCDS46071.1	ENSP00000248668	Q9P244		UPI00001A5C55	NM_020862.1			2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF34																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	41	39308044	39308044	C	G	1	0	0	0	0	0	0	0	1	8831	639	23	4		4	LRFN1	19	39308044	Silent	SNP	C	C3N-00199_TP	6170264	39308044	19309572	256	11919											
KLK7	0	.	GRCh38	chr19	50981912	50981912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaataatcttgtcaccctGggctggatggagacatggag	11	10	12	8	0	3	1	2	0	1	1	3	4	3	3	1	4	0	1	1	4	2	2	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.76C>A	p.Gln26Lys	p.Q26K	ENST00000391807	3/6	122	88	34	135	133	2	strelka-varscan-mutect	KLK7,missense_variant,p.Gln26Lys,ENST00000391807,NM_139277.2;KLK7,missense_variant,p.Gln26Lys,ENST00000595820,NM_005046.3;KLK7,splice_region_variant,,ENST00000597707,NM_001207053.1;KLK7,splice_region_variant,,ENST00000593904,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK7,downstream_gene_variant,,ENST00000595638,;KLK7,intron_variant,,ENST00000304045,NM_001243126.1;	T	ENST00000391807	Transcript	missense_variant,splice_region_variant	178/1912	76/762	26/253	Q/K	Cag/Aag		1		-1	KLK7	HGNC	HGNC:6368	protein_coding	YES	CCDS12812.1	ENSP00000375683	P49862	A0A024R4H6	UPI0000001BC4	NM_139277.2	tolerated(0.39)		3/6		hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF231,Superfamily_domains:SSF50494																	MODERATE		SNV	5			1										PASS		rs1253902860	.												T	3	4	41	50981912	50981912	G	T	1	0	0	0	0	1	0	0	0	8278	1362	47	2		2	KLK7	19	50981912	Missense_Mutation	SNP	G	C3N-00199_TP	11673868	50981912	7635704	257	11920											
FAM110A	0	.	GRCh38	chr20	845605	845605	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagcgcgttccctatggCgtgtcggtggtggagcgcaa	5	8	18	10	6	0	0	0	0	0	0	2	2	1	2	1	5	2	2	1	5	2	2			C3N-00199_TP	C3N-00199_NB	C	C																c.801C>T	p.=	p.G267G	ENST00000304189	3/3	447	332	115	277	277	0	strelka-varscan-mutect	FAM110A,synonymous_variant,p.=,ENST00000304189,NM_001289145.1;FAM110A,synonymous_variant,p.=,ENST00000381941,NM_001289146.1,NM_001042353.2;FAM110A,synonymous_variant,p.=,ENST00000381939,;FAM110A,synonymous_variant,p.=,ENST00000246100,NM_207121.4,NM_031424.5;FAM110A,synonymous_variant,p.=,ENST00000541082,NM_001289147.1;FAM110A,synonymous_variant,p.=,ENST00000505691,;	T	ENST00000304189	Transcript	synonymous_variant	1182/1856	801/888	267/295	G	ggC/ggT	COSM1413288	1		1	FAM110A	HGNC	HGNC:16188	protein_coding	YES	CCDS13008.1	ENSP00000354163	Q9BQ89		UPI00001285E4	NM_001289145.1			3/3		hmmpanther:PTHR14758:SF4,hmmpanther:PTHR14758,Pfam_domain:PF14160											1						LOW	1	SNV	2		1	1										PASS		rs1220405799	.												T	2	4	41	845605	845605	C	T	1	0	0	0	0	0	0	0	1	5260	755	27	1		1	FAM110A	20	845605	Silent	SNP	C	C3N-00199_TP		845605	63598562	258	11921											
RAD21L1	0	.	GRCh38	chr20	1228525	1228525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgcagctcactgggaGaagaaactcacaaaggccca	13	6	11	11	0	2	2	2	0	0	2	2	3	2	2	1	3	3	3	1	3	3	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.72G>T	p.Glu24Asp	p.E24D	ENST00000409241	2/14	105	75	30	190	190	0	strelka-varscan-mutect	RAD21L1,missense_variant,p.Glu24Asp,ENST00000409241,NM_001136566.2;RAD21L1,missense_variant,p.Glu24Asp,ENST00000402452,;RAD21L1,missense_variant,p.Glu24Asp,ENST00000246108,;RAD21L1,upstream_gene_variant,,ENST00000477283,;	T	ENST00000409241	Transcript	missense_variant	165/1808	72/1671	24/556	E/D	gaG/gaT		1		1	RAD21L1	HGNC	HGNC:16271	protein_coding	YES	CCDS46568.1	ENSP00000386414	Q9H4I0		UPI000188152B	NM_001136566.2	tolerated(0.29)		2/14		Pfam_domain:PF04825,hmmpanther:PTHR12585,hmmpanther:PTHR12585:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	1228525	1228525	G	T	1	0	0	0	0	1	0	0	0	13142	933	33	2		2	RAD21L1	20	1228525	Missense_Mutation	SNP	G	C3N-00199_TP	382920	1228525	63215642	259	11922											
MYH7B	0	.	GRCh38	chr20	34979721	34979721	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcctcgcttcgacttactgGaggacatggccatgatgacg	8	9	12	12	4	0	2	0	2	0	0	2	5	0	4	2	3	1	1	2	3	1	2			C3N-00199_TP	C3N-00199_NB	G	G																c.385G>T	p.Glu129Ter	p.E129*	ENST00000262873	5/43	384	361	23	238	238	0	strelka-varscan-mutect	MYH7B,stop_gained,p.Glu129Ter,ENST00000262873,NM_020884.4;MYH7B,stop_gained,p.Glu128Ter,ENST00000618182,;MYH7B,upstream_gene_variant,,ENST00000481922,;MYH7B,non_coding_transcript_exon_variant,,ENST00000470929,;	T	ENST00000262873	Transcript	stop_gained	477/6293	385/5952	129/1983	E/*	Gag/Tag	COSM3545608	1		1	MYH7B	HGNC	HGNC:15906	protein_coding	YES	CCDS42869.1	ENSP00000262873	A7E2Y1		UPI000046D367	NM_020884.4			5/43		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF358,SMART_domains:SM00242,Superfamily_domains:SSF52540											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	41	34979721	34979721	G	T	1	0	0	0	0	0	1	0	0	10040	1175	41	2		2	MYH7B	20	34979721	Nonsense_Mutation	SNP	G	C3N-00199_TP	33751196	34979721	29464446	260	11923											
PROCR	0	.	GRCh38	chr20	35176798	35176798	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcttcctgtgcacaggTggacggcgatgttaattact	8	12	12	9	2	1	0	0	0	1	0	2	2	2	1	1	4	2	3	1	4	2	3	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.702T>A	p.=	p.G234G	ENST00000216968	4/4	719	462	257	580	580	0	strelka-varscan-mutect	PROCR,synonymous_variant,p.=,ENST00000216968,NM_006404.4;PROCR,intron_variant,,ENST00000635377,;PROCR,intron_variant,,ENST00000634509,;RP11-42O4.2,upstream_gene_variant,,ENST00000615962,;	A	ENST00000216968	Transcript	synonymous_variant	784/1348	702/717	234/238	G	ggT/ggA		1		1	PROCR	HGNC	HGNC:9452	protein_coding	YES	CCDS13248.1	ENSP00000216968	Q9UNN8		UPI000012A08E	NM_006404.4			4/4		hmmpanther:PTHR15349																	LOW	1	SNV	1			1										PASS		rs1023443790	.												A	2	1	41	35176798	35176798	T	A	1	0	0	0	0	0	0	0	1	12681	1683	59	4		4	PROCR	20	35176798	Silent	SNP	T	C3N-00199_TP	197077	35176798	29267369	261	11924											
JPH2	0	.	GRCh38	chr20	44160115	44160115	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcttgcccagcagcgcGccccgctggaagaggccgcc	6	3	14	18	5	0	1	0	0	0	1	0	2	0	2	5	2	4	4	5	2	1	1	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.672C>T	p.=	p.G224G	ENST00000372980	2/6	525	322	203	311	311	0	strelka-varscan-mutect	JPH2,synonymous_variant,p.=,ENST00000372980,NM_020433.4;	A	ENST00000372980	Transcript	synonymous_variant	1545/4787	672/2091	224/696	G	ggC/ggT		1		-1	JPH2	HGNC	HGNC:14202	protein_coding	YES	CCDS13325.1	ENSP00000362071	Q9BR39		UPI000012DAC2	NM_020433.4			2/6		hmmpanther:PTHR23085:SF5,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	41	44160115	44160115	G	A	1	0	0	0	0	0	0	0	1	7873	1074	38	1		1	JPH2	20	44160115	Silent	SNP	G	C3N-00199_TP	8983317	44160115	20284052	262	11925											
VAPB	0	.	GRCh38	chr20	58440997	58440997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagttcttctttggatGacaccgaagttaagaaggtt	10	14	10	7	1	3	3	0	2	3	1	3	5	3	4	1	2	0	3	1	2	3	5			C3N-00199_TP	C3N-00199_NB	G	G																c.487G>T	p.Asp163Tyr	p.D163Y	ENST00000475243	5/6	158	109	49	319	319	0	strelka-varscan-mutect	VAPB,missense_variant,p.Asp163Tyr,ENST00000475243,NM_004738.4;VAPB,intron_variant,,ENST00000395802,NM_001195677.1;VAPB,non_coding_transcript_exon_variant,,ENST00000265619,;VAPB,non_coding_transcript_exon_variant,,ENST00000463370,;VAPB,3_prime_UTR_variant,,ENST00000520497,;VAPB,non_coding_transcript_exon_variant,,ENST00000476395,;	T	ENST00000475243	Transcript	missense_variant	825/7936	487/732	163/243	D/Y	Gac/Tac	COSM5187568	1		1	VAPB	HGNC	HGNC:12649	protein_coding	YES	CCDS33498.1	ENSP00000417175	O95292	Q53XM7	UPI0000048ED2	NM_004738.4	deleterious(0)		5/6		hmmpanther:PTHR10809:SF12,hmmpanther:PTHR10809,PIRSF_domain:PIRSF019693											1						MODERATE	1	SNV	1		1	1										PASS		rs892724485	.												T	3	4	41	58440997	58440997	G	T	1	0	0	0	0	1	0	0	0	17667	1290	45	2		2	VAPB	20	58440997	Missense_Mutation	SNP	G	C3N-00199_TP	14280882	58440997	6003170	263	11926											
PHACTR3	0	.	GRCh38	chr20	59755361	59755361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcccacttggacgatGcaggtactggctggagacca	9	7	13	12	1	0	1	0	0	0	1	0	4	0	2	2	4	4	4	2	4	1	2	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.538G>T	p.Ala180Ser	p.A180S	ENST00000371015	4/13	244	194	50	197	197	0	strelka-varscan-mutect	PHACTR3,missense_variant,p.Ala180Ser,ENST00000371015,NM_080672.4;PHACTR3,missense_variant,p.Ala139Ser,ENST00000395636,NM_183244.1;PHACTR3,missense_variant,p.Ala139Ser,ENST00000541461,NM_001281507.1;PHACTR3,missense_variant,p.Ala177Ser,ENST00000359926,NM_001199505.1;PHACTR3,missense_variant,p.Ala139Ser,ENST00000355648,NM_001199506.1;PHACTR3,missense_variant,p.Ala139Ser,ENST00000361300,NM_183246.1;	T	ENST00000371015	Transcript	missense_variant	1005/2728	538/1680	180/559	A/S	Gca/Tca		1		1	PHACTR3	HGNC	HGNC:15833	protein_coding	YES	CCDS13480.1	ENSP00000360054	Q96KR7		UPI000006D452	NM_080672.4	tolerated(0.73)		4/13		hmmpanther:PTHR12751:SF7,hmmpanther:PTHR12751																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	59755361	59755361	G	T	1	0	0	0	0	1	0	0	0	11900	1333	46	2		2	PHACTR3	20	59755361	Missense_Mutation	SNP	G	C3N-00199_TP	1314364	59755361	4688806	264	11927											
KRTAP24-1	0	.	GRCh38	chr21	30282630	30282630	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacagacactgaagacttgGcctgctgatggggagttgca	10	9	13	9	0	1	4	1	2	0	2	1	5	1	5	1	3	2	3	1	3	1	2	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.303C>A	p.=	p.G101G	ENST00000340345	1/1	44	31	13	62	62	0	strelka-varscan-mutect	KRTAP24-1,synonymous_variant,p.=,ENST00000340345,NM_001085455.2;	T	ENST00000340345	Transcript	synonymous_variant	329/1650	303/765	101/254	G	ggC/ggA		1		-1	KRTAP24-1	HGNC	HGNC:33902	protein_coding	YES	CCDS42915.1	ENSP00000339238	Q3LI83		UPI00005C50F3	NM_001085455.2			1/1		Pfam_domain:PF05287,hmmpanther:PTHR23260,hmmpanther:PTHR23260:SF2																	LOW	1	SNV				1										PASS		.	.												T	2	4	41	30282630	30282630	G	T	1	0	0	0	0	0	0	0	1	8433	1190	42	2		2	KRTAP24-1	21	30282630	Silent	SNP	G	C3N-00199_TP		30282630	16427353	265	11928											
CECR6	0	.	GRCh38	chr22	17119472	17119472	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagatgcagtggcccagctgGgagcctccctgaggtggtgg	6	7	18	10	0	0	2	0	1	0	1	1	4	1	3	3	5	3	2	3	5	0	0	novel		C3N-00199_TP	C3N-00199_NB	G	G																c.1656C>T	p.=	p.S552S	ENST00000331437	1/1	651	592	59	564	563	1	strelka-varscan-mutect	CECR6,synonymous_variant,p.=,ENST00000331437,NM_031890.3;CECR6,synonymous_variant,p.=,ENST00000399875,NM_001163079.1;IL17RA,downstream_gene_variant,,ENST00000319363,NM_014339.6;IL17RA,downstream_gene_variant,,ENST00000612619,NM_001289905.1;AC006946.15,upstream_gene_variant,,ENST00000441544,;AC006946.15,upstream_gene_variant,,ENST00000428078,;	A	ENST00000331437	Transcript	synonymous_variant	1782/4954	1656/1737	552/578	S	tcC/tcT		1		-1	CECR6	HGNC	HGNC:1844	protein_coding	YES	CCDS13740.1	ENSP00000329318	Q9BXQ6		UPI0000127513	NM_031890.3			1/1		hmmpanther:PTHR22146,hmmpanther:PTHR22146:SF1,Low_complexity_(Seg):seg																	LOW		SNV				1										PASS		.	.												A	2	1	41	17119472	17119472	G	A	1	0	0	0	0	0	0	0	1	2915	1219	43	3		3	CECR6	22	17119472	Silent	SNP	G	C3N-00199_TP		17119472	33698996	266	11929											
CECR2	0	.	GRCh38	chr22	17542812	17542812	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatgattgcgatgcagcAgctctcctcccgcgtctgcc	7	9	11	14	3	2	2	0	1	2	1	4	4	3	2	3	0	5	3	3	0	0	1	rs865863983		C3N-00199_TP	C3N-00199_NB	A	A																c.2180A>T	p.Gln727Leu	p.Q727L	ENST00000400585	16/19	168	154	14	145	145	0	strelka-varscan-mutect	CECR2,missense_variant,p.Gln868Leu,ENST00000612582,;CECR2,missense_variant,p.Gln910Leu,ENST00000342247,NM_001290047.1;CECR2,missense_variant,p.Gln727Leu,ENST00000400585,NM_001290046.1;CECR2,missense_variant,p.Gln727Leu,ENST00000262608,;	T	ENST00000400585	Transcript	missense_variant	2618/4833	2180/3903	727/1300	Q/L	cAg/cTg	rs865863983	1		1	CECR2	HGNC	HGNC:1840	protein_coding	YES	CCDS77646.1	ENSP00000383428		B7WPH3	UPI000198C520	NM_001290046.1	deleterious(0)		16/19																			MODERATE	1	SNV	1			1										PASS		rs865863983	.												T	3	4	41	17542812	17542812	A	T	1	0	0	0	0	1	0	0	0	2913	188	7	4		4	CECR2	22	17542812	Missense_Mutation	SNP	A	C3N-00199_TP	423340	17542812	33275656	267	11930											
TTC28	0	.	GRCh38	chr22	28679663	28679663	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctggctcccgccgccttcGgctccttgcgggggtcggcc	0	9	14	18	5	1	0	0	0	1	0	5	0	3	0	5	5	1	2	5	5	0	2	rs180764192		C3N-00199_TP	C3N-00199_NB	G	G																c.61C>T	p.Arg21Ter	p.R21*	ENST00000397906	1/23	74	63	11	50	50	0	strelka-varscan	TTC28,stop_gained,p.Arg21Ter,ENST00000397906,NM_001145418.1;TTC28,non_coding_transcript_exon_variant,,ENST00000468807,;	A	ENST00000397906	Transcript	stop_gained	203/11795	61/7446	21/2481	R/*	Cga/Tga	rs180764192	1		-1	TTC28	HGNC	HGNC:29179	protein_coding	YES	CCDS46678.1	ENSP00000381003	Q96AY4		UPI00003E58F8	NM_001145418.1			1/23		Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	41	28679663	28679663	G	A	1	0	0	0	0	0	1	0	0	17204	1124	39	1		1	TTC28	22	28679663	Nonsense_Mutation	SNP	G	C3N-00199_TP	11136851	28679663	22138805	268	11931											
CBX6	0	.	GRCh38	chr22	38866963	38866963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcccgcggcttcaccttgCggttgatgatgcgcaccgtc	4	10	12	15	5	1	2	1	2	0	0	3	2	2	2	3	2	2	4	3	2	0	3			C3N-00199_TP	C3N-00199_NB	C	C																c.485G>A	p.Arg162His	p.R162H	ENST00000407418	5/5	142	133	9	115	115	0	strelka-varscan-mutect	CBX6,missense_variant,p.Arg162His,ENST00000407418,NM_014292.4;CBX6,missense_variant,p.Arg144His,ENST00000216083,NM_001303494.1;CBX6,downstream_gene_variant,,ENST00000469420,;	T	ENST00000407418	Transcript	missense_variant	609/6122	485/1239	162/412	R/H	cGc/cAc	COSM1199737	1		-1	CBX6	HGNC	HGNC:1556	protein_coding	YES	CCDS13980.1	ENSP00000384490	O95503		UPI00001271FD	NM_014292.4	deleterious(0.04)		5/5		hmmpanther:PTHR22812,hmmpanther:PTHR22812:SF8											1						MODERATE	1	SNV	1		1	1										PASS		rs1003303920	.												T	3	4	41	38866963	38866963	C	T	1	0	0	0	0	1	0	0	0	2422	768	27	1		1	CBX6	22	38866963	Missense_Mutation	SNP	C	C3N-00199_TP	10187300	38866963	11951505	269	11932											
RPS19BP1	0	.	GRCh38	chr22	39532730	39532730	+	Silent	SNP	G	G	A																															aggccccgccgcagcagggcGgcggacatggcggcgcttgg																								novel		C3N-00199_TP	C3N-00199_NB	G	G																c.9C>T	p.=	p.A3A	ENST00000334678	1/4	185	112	73	171	170	1	strelka-varscan-mutect	RPS19BP1,synonymous_variant,p.=,ENST00000334678,NM_194326.3;RPS19BP1,synonymous_variant,p.=,ENST00000420879,;RPS19BP1,non_coding_transcript_exon_variant,,ENST00000472291,;RPS19BP1,non_coding_transcript_exon_variant,,ENST00000459956,;RPS19BP1,non_coding_transcript_exon_variant,,ENST00000491966,;RPS19BP1,upstream_gene_variant,,ENST00000488602,;	A	ENST00000334678	Transcript	synonymous_variant	126/927	9/411	3/136	A	gcC/gcT		1		-1	RPS19BP1	HGNC	HGNC:28749	protein_coding	YES	CCDS13997.1	ENSP00000333948	Q86WX3	A0A024R1T1	UPI000000DC3D	NM_194326.3			1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR31454:SF2,hmmpanther:PTHR31454,Prints_domain:PR02029																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	41	39532730	39532730	G	A	1	0	0	0	0	0	0	0	1	13885	1103	39	1		1	RPS19BP1	22	39532730	Silent	SNP	G	C3N-00199_TP	665767	39532730	11285738	270	11933	270	2									
RPS19BP1	0	.	GRCh38	chr22	39532731	39532731	+	Missense_Mutation	SNP	G	G	A																															ggccccgccgcagcagggcgGcggacatggcggcgcttggc																								novel		C3N-00199_TP	C3N-00199_NB	G	G																c.8C>T	p.Ala3Val	p.A3V	ENST00000334678	1/4	180	107	73	170	170	0	strelka-varscan-mutect	RPS19BP1,missense_variant,p.Ala3Val,ENST00000334678,NM_194326.3;RPS19BP1,missense_variant,p.Ala3Val,ENST00000420879,;RPS19BP1,non_coding_transcript_exon_variant,,ENST00000472291,;RPS19BP1,non_coding_transcript_exon_variant,,ENST00000459956,;RPS19BP1,non_coding_transcript_exon_variant,,ENST00000491966,;RPS19BP1,upstream_gene_variant,,ENST00000488602,;	A	ENST00000334678	Transcript	missense_variant	125/927	8/411	3/136	A/V	gCc/gTc		1		-1	RPS19BP1	HGNC	HGNC:28749	protein_coding	YES	CCDS13997.1	ENSP00000333948	Q86WX3	A0A024R1T1	UPI000000DC3D	NM_194326.3	tolerated(0.09)		1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR31454:SF2,hmmpanther:PTHR31454,Prints_domain:PR02029																	MODERATE	1	SNV	1			1										PASS		rs1223481943	.												A	3	1	41	39532731	39532731	G	A	1	0	0	0	0	1	0	0	0	13885	1203	42	3		3	RPS19BP1	22	39532731	Missense_Mutation	SNP	G	C3N-00199_TP	1	39532731	11285737	271	11934	270	2									
DCAF8L2	0	.	GRCh38	chrX	27748382	27748382	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattgcgggcacatcttctTctgggagaaatcatcctgcc	8	12	10	11	1	4	2	1	1	3	1	5	3	5	2	2	2	2	1	2	2	1	3	novel		C3N-00199_TP	C3N-00199_NB	T	T																c.1487T>C	p.Phe496Ser	p.F496S	ENST00000451261	5/5	62	35	27	135	135	0	strelka-varscan-mutect	DCAF8L2,missense_variant,p.Phe496Ser,ENST00000451261,;DCAF8L2,missense_variant,p.Phe496Ser,ENST00000545306,NM_001136533.1;DCAF8L2,downstream_gene_variant,,ENST00000431122,;DCAF8L2,downstream_gene_variant,,ENST00000583068,;	C	ENST00000451261	Transcript	missense_variant	1886/2295	1487/1896	496/631	F/S	tTc/tCc		1		1	DCAF8L2	HGNC	HGNC:31811	protein_coding	YES	CCDS59162.1	ENSP00000462745	P0C7V8		UPI000183CBD9		deleterious(0)		5/5		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50294,hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF42,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	4			1										PASS		.	.												C	3	2	41	27748382	27748382	T	C	1	0	0	0	0	1	0	0	0	4079	1783	62	5		5	DCAF8L2	23	27748382	Missense_Mutation	SNP	T	C3N-00199_TP		27748382	128292513	272	11935											
DCAF8L2	0	.	GRCh38	chrX	27748521	27748521	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcaagatctggacaccCacagctaaagctgccactga	13	7	9	12	0	2	2	1	1	1	1	2	4	2	3	2	1	3	2	2	1	3	1	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1626C>A	p.=	p.P542P	ENST00000451261	5/5	84	48	36	142	142	0	strelka-varscan-mutect	DCAF8L2,synonymous_variant,p.=,ENST00000451261,;DCAF8L2,synonymous_variant,p.=,ENST00000545306,NM_001136533.1;DCAF8L2,downstream_gene_variant,,ENST00000431122,;DCAF8L2,downstream_gene_variant,,ENST00000583068,;	A	ENST00000451261	Transcript	synonymous_variant	2025/2295	1626/1896	542/631	P	ccC/ccA		1		1	DCAF8L2	HGNC	HGNC:31811	protein_coding	YES	CCDS59162.1	ENSP00000462745	P0C7V8		UPI000183CBD9				5/5		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF42																	LOW	1	SNV	4			1										PASS		.	.												A	2	1	41	27748521	27748521	C	A	1	0	0	0	0	0	0	0	1	4079	581	21	2		2	DCAF8L2	23	27748521	Silent	SNP	C	C3N-00199_TP	139	27748521	128292374	273	11936											
MAGEB2	0	.	GRCh38	chrX	30218802	30218802	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgccgctgctgcggctgcGggtgtttcatccacaaaatc	7	10	11	13	3	1	0	1	0	0	0	3	0	2	0	2	2	4	4	2	2	2	1	rs200872475		C3N-00199_TP	C3N-00199_NB	G	G																c.222G>T	p.=	p.A74A	ENST00000378988	2/2	110	59	51	113	113	0	strelka-varscan-mutect	MAGEB2,synonymous_variant,p.=,ENST00000378988,NM_002364.4;	T	ENST00000378988	Transcript	synonymous_variant	323/1610	222/960	74/319	A	gcG/gcT	rs200872475	1		1	MAGEB2	HGNC	HGNC:6809	protein_coding	YES	CCDS14219.1	ENSP00000368273	O15479		UPI000013C683	NM_002364.4			2/2		Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF22,Low_complexity_(Seg):seg,SMART_domains:SM01392																	LOW	1	SNV	1			1										PASS		rs200872475	.												T	2	4	41	30218802	30218802	G	T	1	0	0	0	0	0	0	0	1	9092	1103	39	1		1	MAGEB2	23	30218802	Silent	SNP	G	C3N-00199_TP	2470281	30218802	125822093	274	11937											
PPP1R2P9	0	.	GRCh38	chrX	42778053	42778053	+	Silent	SNP	C	C	T																															ttcaggatccccttgatgggCcggtgcgaggaggtggaggc																								novel		C3N-00199_TP	C3N-00199_NB	C	C																c.27G>A	p.=	p.R9R	ENST00000378131	1/1	50	20	30	59	59	0	strelka-varscan-mutect	PPP1R2P9,synonymous_variant,p.=,ENST00000378131,;	T	ENST00000378131	Transcript	synonymous_variant	195/880	27/609	9/202	R	cgG/cgA		1		-1	PPP1R2P9	HGNC	HGNC:16324	protein_coding	YES		ENSP00000490336	O14990		UPI00000726BA				1/1		hmmpanther:PTHR12398,hmmpanther:PTHR12398:SF21																	LOW	1	SNV				1										PASS		.	.												T	2	4	41	42778053	42778053	C	T	1	0	0	0	0	0	0	0	1	12487	726	26	3		3	PPP1R2P9	23	42778053	Silent	SNP	C	C3N-00199_TP	12559251	42778053	113262842	275	11938	271	2									
PPP1R2P9	0	.	GRCh38	chrX	42778054	42778054	+	Missense_Mutation	SNP	C	C	T																															tcaggatccccttgatgggcCggtgcgaggaggtggaggct																								novel		C3N-00199_TP	C3N-00199_NB	C	C																c.26G>A	p.Arg9Gln	p.R9Q	ENST00000378131	1/1	50	22	28	58	58	0	strelka-varscan-mutect	PPP1R2P9,missense_variant,p.Arg9Gln,ENST00000378131,;	T	ENST00000378131	Transcript	missense_variant	194/880	26/609	9/202	R/Q	cGg/cAg		1		-1	PPP1R2P9	HGNC	HGNC:16324	protein_coding	YES		ENSP00000490336	O14990		UPI00000726BA		tolerated(0.14)		1/1		hmmpanther:PTHR12398,hmmpanther:PTHR12398:SF21																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	41	42778054	42778054	C	T	1	0	0	0	0	1	0	0	0	12487	652	23	1		1	PPP1R2P9	23	42778054	Missense_Mutation	SNP	C	C3N-00199_TP	1	42778054	113262841	276	11939	271	2									
CACNA1F	0	.	GRCh38	chrX	49217925	49217925	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgcaccccgatgcaggcGaacataaattgcagaagtgt	13	7	11	10	2	0	1	0	0	0	1	0	3	0	1	2	1	5	4	2	1	4	2			C3N-00199_TP	C3N-00199_NB	G	G																c.3042C>T	p.=	p.F1014F	ENST00000376265	25/48	392	350	42	302	302	0	strelka-varscan-mutect	CACNA1F,synonymous_variant,p.=,ENST00000376265,NM_005183.3;CACNA1F,synonymous_variant,p.=,ENST00000323022,NM_001256789.2;CACNA1F,synonymous_variant,p.=,ENST00000376251,NM_001256790.2;CACNA1F,downstream_gene_variant,,ENST00000480889,;	A	ENST00000376265	Transcript	synonymous_variant	3104/6070	3042/5934	1014/1977	F	ttC/ttT	COSM3780506	1		-1	CACNA1F	HGNC	HGNC:1393	protein_coding	YES	CCDS35253.1	ENSP00000365441	O60840		UPI0000072854	NM_005183.3			25/48		hmmpanther:PTHR10037:SF184,hmmpanther:PTHR10037,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	41	49217925	49217925	G	A	1	0	0	0	0	0	0	0	1	2231	1049	37	1		1	CACNA1F	23	49217925	Silent	SNP	G	C3N-00199_TP	6439871	49217925	106822970	277	11940											
CACNA1F	0	.	GRCh38	chrX	49224927	49224927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggcagaggggcccagacCgtacaatttgagaagcatct	13	7	12	9	1	1	3	0	1	1	3	1	4	1	3	2	3	2	3	2	3	4	3	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1744G>T	p.Gly582Cys	p.G582C	ENST00000376265	14/48	360	143	217	254	254	0	strelka-varscan-mutect	CACNA1F,missense_variant,p.Gly582Cys,ENST00000376265,NM_005183.3;CACNA1F,missense_variant,p.Gly571Cys,ENST00000323022,NM_001256789.2;CACNA1F,missense_variant,p.Gly517Cys,ENST00000376251,NM_001256790.2;CACNA1F,upstream_gene_variant,,ENST00000480889,;	A	ENST00000376265	Transcript	missense_variant	1806/6070	1744/5934	582/1977	G/C	Ggt/Tgt		1		-1	CACNA1F	HGNC	HGNC:1393	protein_coding	YES	CCDS35253.1	ENSP00000365441	O60840		UPI0000072854	NM_005183.3	tolerated(0.05)		14/48		hmmpanther:PTHR10037:SF184,hmmpanther:PTHR10037,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1198536265	.												A	3	1	41	49224927	49224927	C	A	1	0	0	0	0	1	0	0	0	2231	652	23	1		1	CACNA1F	23	49224927	Missense_Mutation	SNP	C	C3N-00199_TP	7002	49224927	106815968	278	11941											
IQSEC2	0	.	GRCh38	chrX	53248781	53248781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattcccctatcatctgcCggctgaggcctttccgctcc	5	11	9	16	2	2	1	1	1	1	0	5	2	5	2	6	3	1	2	6	3	2	3	rs150014892		C3N-00199_TP	C3N-00199_NB	C	C																c.2399G>T	p.Arg800Leu	p.R800L	ENST00000396435	6/15	176	74	102	129	129	0	strelka-varscan-mutect	IQSEC2,missense_variant,p.Arg800Leu,ENST00000396435,NM_001111125.2;IQSEC2,missense_variant,p.Arg595Leu,ENST00000375365,NM_015075.1;	A	ENST00000396435	Transcript	missense_variant	2600/6011	2399/4467	800/1488	R/L	cGg/cTg	rs150014892	1		-1	IQSEC2	HGNC	HGNC:29059	protein_coding	YES	CCDS48130.1	ENSP00000379712	Q5JU85		UPI00001C207D	NM_001111125.2	deleterious(0.01)		6/15		PROSITE_profiles:PS50190,hmmpanther:PTHR10663:SF61,hmmpanther:PTHR10663,Pfam_domain:PF01369,Gene3D:1.10.220.20,SMART_domains:SM00222,Superfamily_domains:SSF48425																	MODERATE	1	SNV	1			1										PASS		rs150014892	.												A	3	1	41	53248781	53248781	C	A	1	0	0	0	0	1	0	0	0	7724	652	23	1		1	IQSEC2	23	53248781	Missense_Mutation	SNP	C	C3N-00199_TP	4023854	53248781	102792114	279	11942											
FGD1	0	.	GRCh38	chrX	54456523	54456523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaccattttgcggatggCagcattcgagtgctctgctg	7	12	11	11	2	2	0	1	0	1	0	3	2	2	1	1	2	4	4	1	2	0	3	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.1681G>A	p.Ala561Thr	p.A561T	ENST00000375135	9/18	117	98	19	55	55	0	strelka-varscan-mutect	FGD1,missense_variant,p.Ala561Thr,ENST00000375135,NM_004463.2;	T	ENST00000375135	Transcript	missense_variant	2415/4275	1681/2886	561/961	A/T	Gcc/Acc		1		-1	FGD1	HGNC	HGNC:3663	protein_coding	YES	CCDS14359.1	ENSP00000364277	P98174	A0A024R9Y5	UPI000012A705	NM_004463.2	tolerated(0.06)		9/18		PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF79,Gene3D:1.20.900.10,Superfamily_domains:SSF48065																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	41	54456523	54456523	C	T	1	0	0	0	0	1	0	0	0	5696	710	25	3		3	FGD1	23	54456523	Missense_Mutation	SNP	C	C3N-00199_TP	1207742	54456523	101584372	280	11943											
KLHL4	0	.	GRCh38	chrX	87633856	87633856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggacgacagtggaattacGtagccagtatgtcaactcct	12	9	11	9	2	1	0	1	0	0	0	2	3	2	2	2	2	3	2	2	2	5	3	rs755871530		C3N-00199_TP	C3N-00199_NB	G	G																c.1657G>T	p.Val553Leu	p.V553L	ENST00000373114	8/11	30	15	15	80	80	0	strelka-varscan-mutect	KLHL4,missense_variant,p.Val553Leu,ENST00000373119,NM_019117.4;KLHL4,missense_variant,p.Val553Leu,ENST00000373114,NM_057162.2;	T	ENST00000373114	Transcript	missense_variant	1737/2445	1657/2163	553/720	V/L	Gta/Tta	rs755871530,COSM1132251,COSM1132252	1		1	KLHL4	HGNC	HGNC:6355	protein_coding	YES	CCDS14456.1	ENSP00000362206	Q9C0H6		UPI000002ACC4	NM_057162.2	tolerated(0.05)		8/11		Superfamily_domains:0052715,Gene3D:1k3iA02,Pfam_domain:PF01344,Prints_domain:PR00501,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF74,SMART_domains:SM00612											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs755871530	.												T	3	4	41	87633856	87633856	G	T	1	0	0	0	0	1	0	0	0	8257	1145	40	1		1	KLHL4	23	87633856	Missense_Mutation	SNP	G	C3N-00199_TP	33177333	87633856	68407039	281	11944											
DCAF12L1	0	.	GRCh38	chrX	126551774	126551774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccgtccaaggacaccgCtcccagttcctggttcttgc	6	10	10	15	2	1	0	0	0	1	0	4	1	4	1	5	2	2	4	5	2	2	4	novel		C3N-00199_TP	C3N-00199_NB	C	C																c.835G>T	p.Ala279Ser	p.A279S	ENST00000371126	1/2	172	29	143	95	95	0	strelka-varscan-mutect	DCAF12L1,missense_variant,p.Ala279Ser,ENST00000371126,NM_178470.4;	A	ENST00000371126	Transcript	missense_variant	1078/3382	835/1392	279/463	A/S	Gcg/Tcg		1		-1	DCAF12L1	HGNC	HGNC:29395	protein_coding	YES	CCDS14610.1	ENSP00000360167	Q5VU92		UPI0000160112	NM_178470.4	tolerated(0.18)		1/2		Gene3D:2.130.10.10,hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF9,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	41	126551774	126551774	C	A	1	0	0	0	0	1	0	0	0	4065	797	28	2		2	DCAF12L1	23	126551774	Missense_Mutation	SNP	C	C3N-00199_TP	38917918	126551774	29489121	282	11945											
FRMD7	0	.	GRCh38	chrX	132097281	132097281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tataccttgtaagttcttccCgcagatgtccagggtccact	8	13	8	12	1	1	1	0	0	1	1	4	1	4	1	4	1	1	3	4	1	3	6	rs747452860		C3N-00199_TP	C3N-00199_NB	C	C																c.269G>A	p.Arg90Gln	p.R90Q	ENST00000298542	4/12	149	48	101	164	164	0	strelka-varscan-mutect	FRMD7,missense_variant,p.Arg90Gln,ENST00000298542,NM_194277.2;FRMD7,missense_variant,p.Arg75Gln,ENST00000464296,NM_001306193.1;FRMD7,upstream_gene_variant,,ENST00000370879,;	T	ENST00000298542	Transcript	missense_variant	445/3198	269/2145	90/714	R/Q	cGg/cAg	rs747452860	1		-1	FRMD7	HGNC	HGNC:8079	protein_coding	YES	CCDS35397.1	ENSP00000298542	Q6ZUT3		UPI00001C0AED	NM_194277.2	tolerated(0.94)		4/12		Gene3D:1.20.80.10,Pfam_domain:PF00373,PROSITE_profiles:PS50057,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF112,SMART_domains:SM00295,Superfamily_domains:SSF47031																	MODERATE	1	SNV	1			1										PASS		rs747452860	.												T	3	4	41	132097281	132097281	C	T	1	0	0	0	0	1	0	0	0	5925	652	23	1		1	FRMD7	23	132097281	Missense_Mutation	SNP	C	C3N-00199_TP	5545507	132097281	23943614	283	11946											
CNGA2	0	.	GRCh38	chrX	151743287	151743287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtttgagttctttgacCggacagagacacgcaccaac	11	9	10	11	2	1	3	0	2	1	1	1	5	1	4	2	1	1	4	2	1	1	3	rs747754116		C3N-00199_TP	C3N-00199_NB	C	C																c.784C>T	p.Arg262Trp	p.R262W	ENST00000329903	6/6	121	110	11	93	93	0	strelka-varscan-mutect	CNGA2,missense_variant,p.Arg262Trp,ENST00000329903,NM_005140.1;	T	ENST00000329903	Transcript	missense_variant	817/2834	784/1995	262/664	R/W	Cgg/Tgg	rs747754116,COSM310163,COSM5412218	1		1	CNGA2	HGNC	HGNC:2149	protein_coding	YES	CCDS14701.1	ENSP00000328478	Q16280		UPI000003E7AE	NM_005140.1	deleterious(0)		6/6		hmmpanther:PTHR10217:SF389,hmmpanther:PTHR10217,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs747754116	.												T	3	4	41	151743287	151743287	C	T	1	0	0	0	0	1	0	0	0	3377	643	23	1		1	CNGA2	23	151743287	Missense_Mutation	SNP	C	C3N-00199_TP	19646006	151743287	4297608	284	11947											
MAGEA6	0	.	GRCh38	chrX	152766854	152766854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggaactcatagcatgcaGgatcactgccggggacctgc	11	6	12	12	1	2	0	2	0	0	0	2	3	2	3	2	4	5	2	2	4	2	1	rs781930988		C3N-00199_TP	C3N-00199_NB	G	G																c.797C>T	p.Pro266Leu	p.P266L	ENST00000616035	3/3	258	225	33	218	218	0	strelka-varscan-mutect	MAGEA6,missense_variant,p.Pro266Leu,ENST00000616035,NM_175868.1;MAGEA6,missense_variant,p.Pro266Leu,ENST00000329342,NM_005363.2;MAGEA6,downstream_gene_variant,,ENST00000457643,;MAGEA6,downstream_gene_variant,,ENST00000412733,;	A	ENST00000616035	Transcript	missense_variant	1055/1762	797/945	266/314	P/L	cCt/cTt	rs781930988,COSM367545	1		-1	MAGEA6	HGNC	HGNC:6804	protein_coding	YES	CCDS76050.1	ENSP00000480637	P43360		UPI000000D9B0	NM_175868.1	deleterious(0.01)		3/3		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF60,hmmpanther:PTHR11736,Pfam_domain:PF01454,SMART_domains:SM01373											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs781930988	.												A	3	1	41	152766854	152766854	G	A	1	0	0	0	0	1	0	0	0	9085	1000	35	3		3	MAGEA6	23	152766854	Missense_Mutation	SNP	G	C3N-00199_TP	1023567	152766854	3274041	285	11948											
PRAMEF12	0	.	GRCh38	chr1	12777546	12777546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcagggcctcctatgacCtggagcccagtcactgtctg	7	9	11	14	0	3	1	2	1	1	0	4	2	4	2	4	2	1	1	4	2	1	1	rs754343116		C3N-00203_TP	C3N-00203_NB	C	C																c.1399C>A	p.Leu467Met	p.L467M	ENST00000357726	3/3	274	209	65	247	247	0	strelka-varscan-mutect	PRAMEF12,missense_variant,p.Leu467Met,ENST00000357726,NM_001080830.4;	A	ENST00000357726	Transcript	missense_variant	1426/1786	1399/1452	467/483	L/M	Ctg/Atg	rs754343116	1		1	PRAMEF12	HGNC	HGNC:22125	protein_coding	YES	CCDS41254.1	ENSP00000350358	O95522		UPI0000EE6E0A	NM_001080830.4	tolerated(0.18)		3/3		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF31,PIRSF_domain:PIRSF038286																	MODERATE	1	SNV	2			1										PASS		rs754343116	.												A	3	1	42	12777546	12777546	C	A	1	0	0	0	0	1	0	0	0	12557	680	24	2		2	PRAMEF12	1	12777546	Missense_Mutation	SNP	C	C3N-00203_TP		12777546	236178876	1	11949											
PAX7	0	.	GRCh38	chr1	18735749	18735749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcagccagctgcagcCagcgggccgactccatcaag	9	5	10	17	2	2	0	2	0	1	0	4	1	3	0	5	1	5	2	5	1	1	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1273C>A	p.Gln425Lys	p.Q425K	ENST00000375375	8/8	451	409	42	291	291	0	strelka-varscan-mutect	PAX7,missense_variant,p.Gln425Lys,ENST00000420770,NM_001135254.1;PAX7,missense_variant,p.Gln425Lys,ENST00000375375,NM_002584.2;PAX7,missense_variant,p.Gln423Lys,ENST00000400661,NM_013945.2;	A	ENST00000375375	Transcript	missense_variant	1871/2260	1273/1563	425/520	Q/K	Cag/Aag		1		1	PAX7	HGNC	HGNC:8621	protein_coding	YES	CCDS186.1	ENSP00000364524	P23759		UPI000004A132	NM_002584.2	deleterious_low_confidence(0.01)		8/8		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF248																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	18735749	18735749	C	A	1	0	0	0	0	1	0	0	0	11569	595	21	2		2	PAX7	1	18735749	Missense_Mutation	SNP	C	C3N-00203_TP	5958203	18735749	230220673	2	11950											
MYOM3	0	.	GRCh38	chr1	24068288	24068288	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggagttgagcggtgtacGaccctttgtcctcctcagac	6	12	11	12	2	1	2	1	1	0	1	3	4	3	3	3	2	2	2	3	2	1	4	rs759894942		C3N-00203_TP	C3N-00203_NB	G	G																c.3230C>A	p.Ser1077Ter	p.S1077*	ENST00000374434	26/37	268	216	52	250	250	0	strelka-varscan-mutect	MYOM3,stop_gained,p.Ser1077Ter,ENST00000374434,NM_152372.3;MYOM3,upstream_gene_variant,,ENST00000338909,;RP11-293P20.4,intron_variant,,ENST00000429191,;RP11-293P20.2,intron_variant,,ENST00000439239,;MYOM3,intron_variant,,ENST00000448831,;	T	ENST00000374434	Transcript	stop_gained	3393/5804	3230/4314	1077/1437	S/*	tCg/tAg	rs759894942	1		-1	MYOM3	HGNC	HGNC:26679	protein_coding	YES	CCDS41281.1	ENSP00000363557	Q5VTT5		UPI0000203A5D	NM_152372.3			26/37		Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		rs759894942	.												T	4	4	42	24068288	24068288	G	T	1	0	0	0	0	0	1	0	0	10094	1059	37	1		1	MYOM3	1	24068288	Nonsense_Mutation	SNP	G	C3N-00203_TP	5332539	24068288	224888134	3	11951											
MATN1	0	.	GRCh38	chr1	30718819	30718819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gacgtgttcgtcctgcggctCgctggcgatctgccgcagcg	3	9	15	14	7	1	0	0	0	1	0	4	2	2	0	2	2	3	4	2	2	0	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.580G>C	p.Glu194Gln	p.E194Q	ENST00000373765	3/8	156	119	37	107	107	0	strelka-varscan-mutect	MATN1,missense_variant,p.Glu194Gln,ENST00000373765,NM_002379.3;MATN1-AS1,non_coding_transcript_exon_variant,,ENST00000414532,;MATN1-AS1,non_coding_transcript_exon_variant,,ENST00000454613,;MATN1-AS1,non_coding_transcript_exon_variant,,ENST00000414763,;MATN1,non_coding_transcript_exon_variant,,ENST00000477320,;MATN1,upstream_gene_variant,,ENST00000494561,;	G	ENST00000373765	Transcript	missense_variant	616/3832	580/1491	194/496	E/Q	Gag/Cag		1		-1	MATN1	HGNC	HGNC:6907	protein_coding	YES	CCDS336.1	ENSP00000362870	P21941		UPI000004F1ED	NM_002379.3	tolerated(0.17)		3/8		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF91,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		rs1329564412	.												G	3	3	42	30718819	30718819	C	G	1	0	0	0	0	1	0	0	0	9259	893	31	4		4	MATN1	1	30718819	Missense_Mutation	SNP	C	C3N-00203_TP	6650531	30718819	218237603	4	11952											
CSMD2	0	.	GRCh38	chr1	33716314	33716314	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgttgaatccttcataTgacatggagaaatcagagat	14	12	10	5	0	2	5	2	3	0	2	3	7	3	5	1	1	0	1	1	1	3	3	rs369448490		C3N-00203_TP	C3N-00203_NB	T	T																c.3189A>C	p.=	p.S1063S	ENST00000373381	20/71	267	228	39	218	218	0	strelka-varscan-mutect	CSMD2,synonymous_variant,p.=,ENST00000373381,NM_001281956.1;CSMD2,synonymous_variant,p.=,ENST00000619121,;CSMD2,synonymous_variant,p.=,ENST00000373388,NM_052896.4;CSMD2,synonymous_variant,p.=,ENST00000241312,;	G	ENST00000373381	Transcript	synonymous_variant	3366/13698	3189/10896	1063/3631	S	tcA/tcC	rs369448490	1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1			20/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	LOW	1	SNV	1			1										PASS		rs369448490	.												G	2	3	42	33716314	33716314	T	G	1	0	0	0	0	0	0	0	1	3746	1451	51	5		5	CSMD2	1	33716314	Silent	SNP	T	C3N-00203_TP	2997495	33716314	215240108	5	11953											
CSMD2	0	.	GRCh38	chr1	33935768	33935768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggccacctacctctgcagGaaggcagggggaagtcccac	9	5	13	14	0	1	0	0	0	1	0	2	2	2	2	4	5	2	2	4	5	3	1			C3N-00203_TP	C3N-00203_NB	G	G																c.704C>T	p.Ser235Phe	p.S235F	ENST00000373381	4/71	64	47	17	57	57	0	strelka-varscan-mutect	CSMD2,missense_variant,p.Ser235Phe,ENST00000373381,NM_001281956.1;CSMD2,missense_variant,p.Ser195Phe,ENST00000619121,;CSMD2,missense_variant,p.Ser195Phe,ENST00000373388,NM_052896.4;CSMD2,missense_variant,p.Ser195Phe,ENST00000241312,;	A	ENST00000373381	Transcript	missense_variant	881/13698	704/10896	235/3631	S/F	tCc/tTc	COSM4901816,COSM4901817	1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1	tolerated(1)		4/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	42	33935768	33935768	G	A	1	0	0	0	0	1	0	0	0	3746	1174	41	3		3	CSMD2	1	33935768	Missense_Mutation	SNP	G	C3N-00203_TP	219454	33935768	215020654	6	11954											
GRIK3	0	.	GRCh38	chr1	36825717	36825717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgctggggttggtgccattgGgctttcgatacaggatgctc	5	12	15	9	2	0	0	0	0	0	0	2	2	0	1	1	5	3	4	1	5	1	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1640C>A	p.Pro547His	p.P547H	ENST00000373091	11/16	163	143	20	144	143	1	strelka-varscan-mutect	GRIK3,missense_variant,p.Pro547His,ENST00000373091,NM_000831.3;GRIK3,missense_variant,p.Pro547His,ENST00000373093,;	T	ENST00000373091	Transcript	missense_variant	1657/9101	1640/2760	547/919	P/H	cCc/cAc		1		-1	GRIK3	HGNC	HGNC:4581	protein_coding	YES	CCDS416.1	ENSP00000362183	Q13003		UPI000013E311	NM_000831.3	deleterious(0)		11/16		Gene3D:3.40.190.10,Pfam_domain:PF10613,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF174,SMART_domains:SM00079,Superfamily_domains:SSF53850																	MODERATE	1	SNV	1			1										PASS		rs1454572099	.												T	3	4	42	36825717	36825717	G	T	1	0	0	0	0	1	0	0	0	6657	1232	43	2		2	GRIK3	1	36825717	Missense_Mutation	SNP	G	C3N-00203_TP	2889949	36825717	212130705	7	11955											
HIVEP3	0	.	GRCh38	chr1	41513336	41513336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggtcttcttggggacacaGgcttgtagctcaaggctgag	8	10	14	9	1	3	1	1	1	2	0	3	2	3	2	0	5	1	4	0	5	2	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.5885C>T	p.Pro1962Leu	p.P1962L	ENST00000372583	8/9	199	172	27	144	144	0	strelka-varscan-mutect	HIVEP3,missense_variant,p.Pro1962Leu,ENST00000372584,NM_001127714.2;HIVEP3,missense_variant,p.Pro1962Leu,ENST00000372583,NM_024503.4;HIVEP3,non_coding_transcript_exon_variant,,ENST00000460604,;	A	ENST00000372583	Transcript	missense_variant	6771/12193	5885/7221	1962/2406	P/L	cCt/cTt		1		-1	HIVEP3	HGNC	HGNC:13561	protein_coding	YES	CCDS463.1	ENSP00000361664	Q5T1R4		UPI000013CC24	NM_024503.4	tolerated(0.49)		8/9		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	41513336	41513336	G	A	1	0	0	0	0	1	0	0	0	7077	1000	35	3		3	HIVEP3	1	41513336	Missense_Mutation	SNP	G	C3N-00203_TP	4687619	41513336	207443086	8	11956											
FAAH	0	.	GRCh38	chr1	46408511	46408511	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtactatgagactgacaactAtaccatgccctccccggcca	11	8	7	15	1	0	2	0	2	0	1	1	3	1	2	5	1	4	1	5	1	5	4	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.1004A>C	p.Tyr335Ser	p.Y335S	ENST00000243167	8/15	512	394	118	420	419	1	strelka-varscan-mutect	FAAH,missense_variant,p.Tyr335Ser,ENST00000243167,NM_001441.2;FAAH,downstream_gene_variant,,ENST00000468718,;FAAH,missense_variant,p.Ile43Leu,ENST00000484697,;FAAH,non_coding_transcript_exon_variant,,ENST00000493735,;FAAH,non_coding_transcript_exon_variant,,ENST00000489366,;FAAH,upstream_gene_variant,,ENST00000493636,;	C	ENST00000243167	Transcript	missense_variant	1088/2094	1004/1740	335/579	Y/S	tAt/tCt		1		1	FAAH	HGNC	HGNC:3553	protein_coding	YES	CCDS535.1	ENSP00000243167	O00519		UPI000013C9E7	NM_001441.2	deleterious(0)		8/15		Gene3D:3.90.1300.10,Pfam_domain:PF01425,PIRSF_domain:PIRSF001221,hmmpanther:PTHR11895,hmmpanther:PTHR11895:SF91,Superfamily_domains:SSF75304																	MODERATE	1	SNV	1			1										PASS		rs1343198051	.												C	3	2	42	46408511	46408511	A	C	1	0	0	0	0	1	0	0	0	5222	449	16	5		5	FAAH	1	46408511	Missense_Mutation	SNP	A	C3N-00203_TP	4895175	46408511	202547911	9	11957											
SCP2	0	.	GRCh38	chr1	53039003	53039003	+	Frame_Shift_Del	DEL	G	G	-																															ggtaaagaggccacctgggtGgtggatgtgaagaatggcaa																								novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1426delG	p.Val476TrpfsTer3	p.V476Wfs*3	ENST00000371514	14/16	281	242	39	241	241	0	sindel-varindel-pindel	SCP2,frameshift_variant,p.Val476TrpfsTer3,ENST00000371514,NM_002979.4;SCP2,frameshift_variant,p.Val452TrpfsTer3,ENST00000407246,NM_001193599.1;SCP2,frameshift_variant,p.Val395TrpfsTer3,ENST00000528311,NM_001193617.1;SCP2,frameshift_variant,p.Val432TrpfsTer3,ENST00000371509,NM_001193600.1;SCP2,frameshift_variant,p.Val91TrpfsTer3,ENST00000478274,;SCP2,frameshift_variant,p.Val69TrpfsTer3,ENST00000430330,NM_001007100.2;SCP2,frameshift_variant,p.Val72TrpfsTer3,ENST00000435345,NM_001007099.2;SCP2,intron_variant,,ENST00000488965,;SCP2,intron_variant,,ENST00000408941,NM_001007250.2;SCP2,intron_variant,,ENST00000484100,;SCP2,3_prime_UTR_variant,,ENST00000478631,;SCP2,3_prime_UTR_variant,,ENST00000533119,;	-	ENST00000371514	Transcript	frameshift_variant	1593/2811	1425/1644	475/547	V/X	gtG/gt		1		1	SCP2	HGNC	HGNC:10606	protein_coding	YES	CCDS572.1	ENSP00000360569	P22307		UPI0000130258	NM_002979.4			14/16		hmmpanther:PTHR24314,hmmpanther:PTHR24314:SF13,Gene3D:3.30.1050.10,Pfam_domain:PF02036,Superfamily_domains:SSF55718																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	42	53039003	53039003	G	-	1	0	1	0	1	0	0	0	0	14203	1335	47	0		0	SCP2	1	53039003	Frame_Shift_Del	DEL	G	C3N-00203_TP	6630492	53039003	195917419	10	11958											
ANKRD13C	0	.	GRCh38	chr1	70292405	70292405	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctcaaaattctgttccaTtatgtttccacctttactca	10	17	2	12	0	3	0	2	0	1	0	5	0	5	0	4	0	2	2	4	0	5	7	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.1198A>G	p.Met400Val	p.M400V	ENST00000370944	9/13	110	98	12	124	124	0	strelka-varscan-mutect	ANKRD13C,missense_variant,p.Met400Val,ENST00000370944,NM_030816.4;ANKRD13C,missense_variant,p.Met365Val,ENST00000262346,;ANKRD13C,non_coding_transcript_exon_variant,,ENST00000490846,;	C	ENST00000370944	Transcript	missense_variant	1512/4069	1198/1626	400/541	M/V	Atg/Gtg		1		-1	ANKRD13C	HGNC	HGNC:25374	protein_coding	YES	CCDS648.2	ENSP00000359982	Q8N6S4		UPI0000140CE0	NM_030816.4	tolerated(0.72)		9/13		hmmpanther:PTHR12447,Pfam_domain:PF11904																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	70292405	70292405	T	C	1	0	0	0	0	1	0	0	0	744	1493	52	5		5	ANKRD13C	1	70292405	Missense_Mutation	SNP	T	C3N-00203_TP	17253402	70292405	178664017	11	11959											
NEGR1	0	.	GRCh38	chr1	71611106	71611106	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcaggccactgcgtccgggGgtcacggtgccagatttaat	8	9	13	11	3	2	1	2	0	0	1	3	1	3	1	3	4	2	0	3	4	1	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.708C>T	p.=	p.T236T	ENST00000357731	5/7	190	165	25	199	199	0	strelka-varscan-mutect	NEGR1,synonymous_variant,p.=,ENST00000357731,NM_173808.2;NEGR1,synonymous_variant,p.=,ENST00000306821,;	A	ENST00000357731	Transcript	synonymous_variant	948/12811	708/1065	236/354	T	acC/acT		1		-1	NEGR1	HGNC	HGNC:17302	protein_coding	YES	CCDS661.1	ENSP00000350364	Q7Z3B1		UPI00000477EE	NM_173808.2			5/7		Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF132,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs1222993912	.												A	2	1	42	71611106	71611106	G	A	1	0	0	0	0	0	0	0	1	10345	1219	43	3		3	NEGR1	1	71611106	Silent	SNP	G	C3N-00203_TP	1318701	71611106	177345316	12	11960											
TNNI3K	0	.	GRCh38	chr1	74463475	74463475	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatggcttaccaccacatCagacctcccattggctattc	10	10	6	15	0	1	1	1	0	0	1	3	2	2	1	4	2	1	2	4	2	2	4	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.2046C>A	p.=	p.I682I	ENST00000326637	21/25	272	228	44	232	232	0	strelka-varscan-mutect	TNNI3K,synonymous_variant,p.=,ENST00000326637,NM_015978.2;FPGT-TNNI3K,synonymous_variant,p.=,ENST00000557284,NM_001112808.2;FPGT-TNNI3K,synonymous_variant,p.=,ENST00000370899,NM_001199327.1;RP4-650F12.2,upstream_gene_variant,,ENST00000442876,;TNNI3K,non_coding_transcript_exon_variant,,ENST00000370889,;	A	ENST00000326637	Transcript	synonymous_variant	2097/3001	2046/2508	682/835	I	atC/atA		1		1	TNNI3K	HGNC	HGNC:19661	protein_coding	YES	CCDS664.1	ENSP00000322251	Q59H18		UPI0000035B8F	NM_015978.2			21/25		PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF477,hmmpanther:PTHR23257,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	74463475	74463475	C	A	1	0	0	0	0	0	0	0	1	16802	816	29	2		2	TNNI3K	1	74463475	Silent	SNP	C	C3N-00203_TP	2852369	74463475	174492947	13	11961											
ERICH3	0	.	GRCh38	chr1	74620851	74620851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agataggtgcacatttttccCcaaatagatcattgtaatag	14	13	7	7	0	1	2	1	0	0	2	2	2	2	2	2	1	1	2	2	1	5	7	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.883G>T	p.Gly295Trp	p.G295W	ENST00000326665	8/15	186	153	33	214	213	1	strelka-varscan-mutect	ERICH3,missense_variant,p.Gly295Trp,ENST00000326665,NM_001002912.4;ERICH3,missense_variant,p.Gly98Trp,ENST00000420661,;ERICH3-AS1,intron_variant,,ENST00000612390,;ERICH3-AS1,intron_variant,,ENST00000416017,;ERICH3,3_prime_UTR_variant,,ENST00000479666,;	A	ENST00000326665	Transcript	missense_variant	1102/7159	883/4593	295/1530	G/W	Ggg/Tgg		1		-1	ERICH3	HGNC	HGNC:25346	protein_coding	YES	CCDS30755.1	ENSP00000322609	Q5RHP9		UPI0000237200	NM_001002912.4	deleterious(0)		8/15		hmmpanther:PTHR23034																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	42	74620851	74620851	C	A	1	0	0	0	0	1	0	0	0	5083	623	22	2		2	ERICH3	1	74620851	Missense_Mutation	SNP	C	C3N-00203_TP	157376	74620851	174335571	14	11962											
MSH4	0	.	GRCh38	chr1	75867571	75867571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttaaaacataccttggaaCttgtggatcctttaaaggta	14	13	7	7	0	0	0	0	0	0	0	1	2	1	2	2	3	3	1	2	3	7	7	rs760280278		C3N-00203_TP	C3N-00203_NB	C	C																c.1288C>A	p.Leu430Ile	p.L430I	ENST00000263187	9/20	126	109	17	179	179	0	strelka-varscan-mutect	MSH4,missense_variant,p.Leu430Ile,ENST00000263187,NM_002440.3;	A	ENST00000263187	Transcript	missense_variant	1392/3266	1288/2811	430/936	L/I	Ctt/Att	rs760280278	1		1	MSH4	HGNC	HGNC:7327	protein_coding	YES	CCDS670.1	ENSP00000263187	O15457		UPI000006D934	NM_002440.3	tolerated(0.05)		9/20		Gene3D:1.10.1420.10,Pfam_domain:PF05192,hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF21,SMART_domains:SM00533,Superfamily_domains:SSF48334																	MODERATE	1	SNV	1			1										PASS		rs760280278	.												A	3	1	42	75867571	75867571	C	A	1	0	0	0	0	1	0	0	0	9855	565	20	2		2	MSH4	1	75867571	Missense_Mutation	SNP	C	C3N-00203_TP	1246720	75867571	173088851	15	11963											
GBP6	0	.	GRCh38	chr1	89369584	89369584	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggtgcagtctgaaaccaagGgcatctggatgtggtgcgtg	8	9	16	8	2	2	1	0	1	2	0	2	2	2	2	1	4	3	2	1	4	2	0	rs770541907		C3N-00203_TP	C3N-00203_NB	G	G																c.229G>C	p.Gly77Arg	p.G77R	ENST00000370456	3/11	138	111	27	126	126	0	strelka-varscan-mutect	GBP6,missense_variant,p.Gly77Arg,ENST00000370456,NM_198460.2;	C	ENST00000370456	Transcript	missense_variant	322/2987	229/1902	77/633	G/R	Ggc/Cgc	rs770541907	1		1	GBP6	HGNC	HGNC:25395	protein_coding	YES	CCDS723.1	ENSP00000359485	Q6ZN66		UPI00001D7DF5	NM_198460.2	deleterious(0)		3/11		PROSITE_profiles:PS51715,hmmpanther:PTHR10751:SF48,hmmpanther:PTHR10751,Pfam_domain:PF02263,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs770541907	.												C	3	2	42	89369584	89369584	G	C	1	0	0	0	0	1	0	0	0	6148	1232	43	4		4	GBP6	1	89369584	Missense_Mutation	SNP	G	C3N-00203_TP	13502013	89369584	159586838	16	11964											
SETSIP	0	.	GRCh38	chr1	92075311	92075311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctttttctcccttcttcGgcaagcctgcagaggccgat	5	14	9	13	2	3	1	0	0	3	1	5	2	3	1	3	2	2	3	3	2	1	5	rs569444534		C3N-00203_TP	C3N-00203_NB	G	G																c.131C>A	p.Pro44Gln	p.P44Q	ENST00000596516	1/1	261	195	66	294	294	0	strelka-varscan-mutect	SETSIP,missense_variant,p.Pro44Gln,ENST00000596516,NM_001287737.1;SETSIP,missense_variant,p.Pro34Gln,ENST00000485873,;BTBD8,upstream_gene_variant,,ENST00000636805,;BTBD8,upstream_gene_variant,,ENST00000635934,;BTBD8,upstream_gene_variant,,ENST00000370382,;	T	ENST00000596516	Transcript	missense_variant	131/909	131/909	44/302	P/Q	cCg/cAg	rs569444534	1		-1	SETSIP	HGNC	HGNC:42937	protein_coding	YES	CCDS72821.1	ENSP00000480946	P0DME0		UPI000016114F	NM_001287737.1	deleterious(0.03)		1/1		hmmpanther:PTHR11875:SF74,hmmpanther:PTHR11875,Superfamily_domains:SSF143113																	MODERATE	1	SNV				1										PASS		rs569444534	.												T	3	4	42	92075311	92075311	G	T	1	0	0	0	0	1	0	0	0	14419	1116	39	1		1	SETSIP	1	92075311	Missense_Mutation	SNP	G	C3N-00203_TP	2705727	92075311	156881111	17	11965											
OLFM3	0	.	GRCh38	chr1	101806157	101806157	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgactgtaactgggccTgtgattttcatcagtttgcc	6	16	10	9	0	3	2	2	2	1	0	3	2	3	2	2	1	2	2	2	1	1	5	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.678A>T	p.=	p.T226T	ENST00000338858	5/6	225	183	42	192	192	0	strelka-varscan-mutect	OLFM3,synonymous_variant,p.=,ENST00000370103,NM_058170.3;OLFM3,synonymous_variant,p.=,ENST00000338858,NM_001288821.1;OLFM3,3_prime_UTR_variant,,ENST00000536598,;OLFM3,non_coding_transcript_exon_variant,,ENST00000462354,;OLFM3,non_coding_transcript_exon_variant,,ENST00000465523,;	A	ENST00000338858	Transcript	synonymous_variant	678/2189	678/1437	226/478	T	acA/acT		1		-1	OLFM3	HGNC	HGNC:17990	protein_coding	YES	CCDS72832.1	ENSP00000345192	Q96PB7	Q6IMJ0	UPI000004C626	NM_001288821.1			5/6		Pfam_domain:PF02191,PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF36,SMART_domains:SM00284																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	101806157	101806157	T	A	1	0	0	0	0	0	0	0	1	10929	1567	55	4		4	OLFM3	1	101806157	Silent	SNP	T	C3N-00203_TP	9730846	101806157	147150265	18	11966											
AKNAD1	0	.	GRCh38	chr1	108851937	108851937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtatttgaacgtgttgcctGaatttgctttttcagtctgc	6	18	9	8	2	2	2	1	2	1	0	2	2	2	2	1	0	4	3	1	0	3	6	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.728C>T	p.Ser243Leu	p.S243L	ENST00000370001	2/16	237	186	51	198	198	0	strelka-varscan-mutect	AKNAD1,missense_variant,p.Ser243Leu,ENST00000370001,NM_152763.4;AKNAD1,missense_variant,p.Ser243Leu,ENST00000369995,;AKNAD1,missense_variant,p.Ser243Leu,ENST00000369994,;RP11-475E11.9,intron_variant,,ENST00000357393,;AKNAD1,missense_variant,p.Ser243Leu,ENST00000474186,;AKNAD1,missense_variant,p.Ser243Leu,ENST00000461774,;AKNAD1,missense_variant,p.Ser243Leu,ENST00000472781,;	A	ENST00000370001	Transcript	missense_variant	997/3053	728/2511	243/836	S/L	tCa/tTa		1		-1	AKNAD1	HGNC	HGNC:28398	protein_coding	YES	CCDS791.2	ENSP00000359018	Q5T1N1		UPI00004700A0	NM_152763.4	deleterious(0.02)		2/16		hmmpanther:PTHR21510,hmmpanther:PTHR21510:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	108851937	108851937	G	A	1	0	0	0	0	1	0	0	0	548	1294	45	3		3	AKNAD1	1	108851937	Missense_Mutation	SNP	G	C3N-00203_TP	7045780	108851937	140104485	19	11967											
SORT1	0	.	GRCh38	chr1	109336272	109336272	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgctgtagcatcacattCactgttttcaggcttcctca	7	17	6	11	0	4	0	4	0	0	0	5	0	5	0	1	1	2	5	1	1	1	7	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1339G>C	p.Glu447Gln	p.E447Q	ENST00000256637	11/20	312	260	52	267	267	0	strelka-varscan-mutect	SORT1,missense_variant,p.Glu447Gln,ENST00000256637,NM_002959.5;SORT1,missense_variant,p.Glu310Gln,ENST00000538502,NM_001205228.1;SORT1,non_coding_transcript_exon_variant,,ENST00000466471,;	G	ENST00000256637	Transcript	missense_variant	1398/7028	1339/2496	447/831	E/Q	Gaa/Caa		1		-1	SORT1	HGNC	HGNC:11186	protein_coding	YES	CCDS798.1	ENSP00000256637	Q99523		UPI0000074182	NM_002959.5	tolerated(0.49)		11/20		Gene3D:2.130.10.140,Pfam_domain:PF15902,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF23,SMART_domains:SM00602,Superfamily_domains:SSF110296																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	42	109336272	109336272	C	G	1	0	0	0	0	1	0	0	0	15257	835	29	4		4	SORT1	1	109336272	Missense_Mutation	SNP	C	C3N-00203_TP	484335	109336272	139620150	20	11968											
NRAS	0	.	GRCh38	chr1	114713909	114713909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	7	15	8	11	0	2	0	0	0	2	0	4	0	4	0	2	1	2	5	2	1	3	5	rs121913254		C3N-00203_TP	C3N-00203_NB	G	G																c.181C>A	p.Gln61Lys	p.Q61K	ENST00000369535	3/7	107	82	25	79	79	0	strelka-varscan-mutect	NRAS,missense_variant,p.Gln61Lys,ENST00000369535,NM_002524.4;CSDE1,downstream_gene_variant,,ENST00000610726,NM_001242891.1;CSDE1,downstream_gene_variant,,ENST00000438362,;CSDE1,downstream_gene_variant,,ENST00000358528,NM_001007553.2;CSDE1,downstream_gene_variant,,ENST00000339438,NM_007158.5;CSDE1,downstream_gene_variant,,ENST00000369530,NM_001130523.2;CSDE1,downstream_gene_variant,,ENST00000530886,;CSDE1,downstream_gene_variant,,ENST00000261443,NM_001242893.1;CSDE1,downstream_gene_variant,,ENST00000534699,NM_001242892.1;CSDE1,downstream_gene_variant,,ENST00000483407,;	T	ENST00000369535	Transcript	missense_variant	435/4449	181/570	61/189	Q/K	Caa/Aaa	rs121913254,COSM580,COSM581	1		-1	NRAS	HGNC	HGNC:7989	protein_coding	YES	CCDS877.1	ENSP00000358548	P01111	Q5U091	UPI0000001254	NM_002524.4	deleterious(0.01)		3/7		PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF189,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs121913254	.												T	3	4	42	114713909	114713909	G	T	1	0	0	0	0	1	0	0	0	10696	1386	48	2		2	NRAS	1	114713909	Missense_Mutation	SNP	G	C3N-00203_TP	5377637	114713909	134242513	21	11969											
FAM72B	0	.	GRCh38	chr1	121177334	121177334	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataacctacaatgttcccacTagaaaagaaagtaaatgtta	19	10	5	7	0	0	2	0	0	0	2	1	2	1	2	2	0	2	3	2	0	10	6	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.231-2A>G		p.X77_splice	ENST00000369390		132	100	32	101	101	0	strelka-varscan-mutect	FAM72B,splice_acceptor_variant,,ENST00000369390,NM_001100910.1;FAM72B,splice_acceptor_variant,,ENST00000355228,NM_001320149.1;FAM72B,splice_acceptor_variant,,ENST00000452190,;FAM72B,splice_acceptor_variant,,ENST00000471903,;FAM72B,intron_variant,,ENST00000619376,;FAM72B,splice_acceptor_variant,,ENST00000468129,;	C	ENST00000369390	Transcript	splice_acceptor_variant	-/2396	231/450	77/149				1		-1	FAM72B	HGNC	HGNC:24805	protein_coding	YES	CCDS72848.1	ENSP00000358397	Q86X60		UPI000046FF4E	NM_001100910.1				2/3																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	42	121177334	121177334	T	C	1	0	0	0	0	0	0	1	0	5480	1536	53	5		5	FAM72B	1	121177334	Splice_Site	SNP	T	C3N-00203_TP	6463425	121177334	127779088	22	11970											
ADAMTSL4	0	.	GRCh38	chr1	150556767	150556768	+	In_Frame_Ins	INS	-	-	CCA																															gagtctgtcggctgaaggccINSccaccacccagcctgtggat																								novel		C3N-00203_TP	C3N-00203_NB	-	-																c.1798_1800dupACC	p.Thr600dup	p.T600dup	ENST00000369039	11/20	132	112	20	100	100	0	sindel-varindel	ADAMTSL4,inframe_insertion,p.Thr600dup,ENST00000369039,NM_001288608.1,NM_001288607.1;ADAMTSL4,inframe_insertion,p.Thr577dup,ENST00000271643,NM_019032.5;ADAMTSL4,inframe_insertion,p.Thr577dup,ENST00000369038,;ADAMTSL4,inframe_insertion,p.Thr577dup,ENST00000369041,NM_025008.4;MIR4257,downstream_gene_variant,,ENST00000581735,;RP11-54A4.2,intron_variant,,ENST00000442435,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000617352,;ADAMTSL4,downstream_gene_variant,,ENST00000483335,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000369035,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000615012,;ADAMTSL4,upstream_gene_variant,,ENST00000489159,;	CCA	ENST00000369039	Transcript	inframe_insertion	2081-2082/4319	1792-1793/3294	598/1097	P/PT	ccc/cCCAcc		1		1	ADAMTSL4	HGNC	HGNC:19706	protein_coding	YES	CCDS72908.1	ENSP00000358035	Q6UY14		UPI0001AE7902	NM_001288608.1,NM_001288607.1			11/20		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF144,Pfam_domain:PF05986																	MODERATE	1	insertion	5	8		1										PASS		.	.												CCA	7	5	42	150556767	150556767	-	CCA	1	0	1	1	0	0	0	0	0	321	623	22	0		0	ADAMTSL4	1	150556767	In_Frame_Ins	INS	-	C3N-00203_TP	29379433	150556767	98399655	23	11971											
HRNR	0	.	GRCh38	chr1	152218440	152218440	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctagatccatgttgaccGtagccagaggactgtcctga	10	9	12	10	1	0	4	0	2	0	2	2	6	2	5	4	1	2	3	4	1	2	3	rs141737935		C3N-00203_TP	C3N-00203_NB	G	G																c.3189C>A	p.Tyr1063Ter	p.Y1063*	ENST00000368801	3/3	648	514	134	499	498	1	strelka-varscan-mutect	HRNR,stop_gained,p.Tyr1063Ter,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368801	Transcript	stop_gained	3265/9623	3189/8553	1063/2850	Y/*	taC/taA	rs141737935,COSM1472638,COSM3369284	1		-1	HRNR	HGNC	HGNC:20846	protein_coding	YES	CCDS30859.1	ENSP00000357791	Q86YZ3		UPI00001D7CAD	NM_001009931.2			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25											0,1,1						HIGH	1	SNV	1		0,1,1	1										PASS		rs141737935	.												T	4	4	42	152218440	152218440	G	T	1	0	0	0	0	0	1	0	0	7254	1140	40	1		1	HRNR	1	152218440	Nonsense_Mutation	SNP	G	C3N-00203_TP	1661673	152218440	96737982	24	11972											
FLG	0	.	GRCh38	chr1	152307453	152307453	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctatctaccaattgctcgTagtgggatccctgccttcct	7	14	7	13	1	2	0	0	0	2	0	5	1	4	1	4	1	3	2	4	1	4	5	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.7433A>G	p.Tyr2478Cys	p.Y2478C	ENST00000368799	3/3	552	390	162	396	396	0	strelka-varscan-mutect	FLG,missense_variant,p.Tyr2478Cys,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	C	ENST00000368799	Transcript	missense_variant	7469/12747	7433/12186	2478/4061	Y/C	tAc/tGc		1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	tolerated(0.08)		3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	152307453	152307453	T	C	1	0	0	0	0	1	0	0	0	5784	1638	57	5		5	FLG	1	152307453	Missense_Mutation	SNP	T	C3N-00203_TP	89013	152307453	96648969	25	11973											
FLG	0	.	GRCh38	chr1	152313689	152313689	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttgcccgcgcccagtGgctgagtgtctggagctgtc	5	9	15	12	2	1	1	0	1	1	0	2	3	1	2	2	2	3	3	2	2	1	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1197C>A	p.=	p.A399A	ENST00000368799	3/3	474	354	120	358	357	1	strelka-varscan-mutect	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,non_coding_transcript_exon_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368799	Transcript	synonymous_variant	1233/12747	1197/12186	399/4061	A	gcC/gcA		1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1			3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571,Pfam_domain:PF03516																	LOW	1	SNV	1			1										PASS		rs1242002570	.												T	2	4	42	152313689	152313689	G	T	1	0	0	0	0	0	0	0	1	5784	1335	47	2		2	FLG	1	152313689	Silent	SNP	G	C3N-00203_TP	6236	152313689	96642733	26	11974											
FLG2	0	.	GRCh38	chr1	152354574	152354574	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatagctagactgacgtGatctagactcatattgtcca	11	11	9	10	1	2	4	1	2	1	2	3	4	3	4	2	1	1	1	2	1	4	5	rs760212702		C3N-00203_TP	C3N-00203_NB	G	G																c.3212C>A	p.Ser1071Ter	p.S1071*	ENST00000388718	3/3	539	421	118	448	448	0	strelka-varscan-mutect	FLG2,stop_gained,p.Ser1071Ter,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,;	T	ENST00000388718	Transcript	stop_gained	3285/9124	3212/7176	1071/2391	S/*	tCa/tAa	rs760212702	1		-1	FLG2	HGNC	HGNC:33276	protein_coding	YES	CCDS30861.1	ENSP00000373370	Q5D862		UPI00004E1DE5	NM_001014342.2			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571																	HIGH		SNV	5			1										PASS		rs760212702	.												T	4	4	42	152354574	152354574	G	T	1	0	0	0	0	0	1	0	0	5785	1294	45	2		2	FLG2	1	152354574	Nonsense_Mutation	SNP	G	C3N-00203_TP	40885	152354574	96601848	27	11975											
KCNN3	0	.	GRCh38	chr1	154725989	154725989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgagttccagctttcggGccaccacggccaccacaagg	8	7	12	14	2	0	1	0	1	0	0	2	1	1	1	5	4	1	2	5	4	1	2	rs758516858		C3N-00203_TP	C3N-00203_NB	G	G																c.1673C>A	p.Ala558Asp	p.A558D	ENST00000618040	6/9	255	223	32	203	203	0	strelka-varscan-mutect	KCNN3,missense_variant,p.Ala558Asp,ENST00000618040,NM_001204087.1;KCNN3,missense_variant,p.Ala543Asp,ENST00000271915,NM_002249.5;KCNN3,missense_variant,p.Ala238Asp,ENST00000361147,NM_170782.2;KCNN3,missense_variant,p.Ala230Asp,ENST00000358505,;	T	ENST00000618040	Transcript	missense_variant	1987/13057	1673/2241	558/746	A/D	gCc/gAc	rs758516858	1		-1	KCNN3	HGNC	HGNC:6292	protein_coding	YES	CCDS72928.1	ENSP00000481848		A0A087WYJ0	UPI0001F936D2	NM_001204087.1	deleterious(0)		6/9		Gene3D:1.10.287.70,Pfam_domain:PF07885,hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF40,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		rs758516858	.												T	3	4	42	154725989	154725989	G	T	1	0	0	0	0	1	0	0	0	7996	1203	42	2		2	KCNN3	1	154725989	Missense_Mutation	SNP	G	C3N-00203_TP	2371415	154725989	94230433	28	11976											
ASH1L	0	.	GRCh38	chr1	155478951	155478951	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgggggataaaatgatgacTtcgatgagtgatccgaattt	12	12	12	5	3	0	4	0	4	0	0	3	7	1	5	1	2	0	0	1	2	3	3	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.3919A>T	p.Ser1307Cys	p.S1307C	ENST00000392403	3/28	254	181	73	192	192	0	strelka-varscan-mutect	ASH1L,missense_variant,p.Ser1307Cys,ENST00000368346,;ASH1L,missense_variant,p.Ser1307Cys,ENST00000392403,NM_018489.2;ASH1L,downstream_gene_variant,,ENST00000548830,;	A	ENST00000392403	Transcript	missense_variant	4398/10979	3919/8895	1307/2964	S/C	Agt/Tgt		1		-1	ASH1L	HGNC	HGNC:19088	protein_coding	YES	CCDS1113.2	ENSP00000376204	Q9NR48		UPI0000DACAC8	NM_018489.2	deleterious_low_confidence(0)		3/28																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	42	155478951	155478951	T	A	1	0	0	0	0	1	0	0	0	1183	1609	56	4		4	ASH1L	1	155478951	Missense_Mutation	SNP	T	C3N-00203_TP	752962	155478951	93477471	29	11977											
NES	0	.	GRCh38	chr1	156673081	156673081	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggttcttaagaaaggcTggcacaggtgtctcaagggt	9	12	13	7	0	3	1	1	0	3	1	4	1	3	1	0	5	0	3	0	5	3	3	rs774118029		C3N-00203_TP	C3N-00203_NB	T	T																c.1107A>T	p.=	p.P369P	ENST00000368223	4/4	62	46	16	57	57	0	strelka-varscan-mutect	NES,synonymous_variant,p.=,ENST00000368223,NM_006617.1;	A	ENST00000368223	Transcript	synonymous_variant	1240/5558	1107/4866	369/1621	P	ccA/ccT	rs774118029,COSM5124273	1		-1	NES	HGNC	HGNC:7756	protein_coding	YES	CCDS1151.1	ENSP00000357206	P48681		UPI0000213DC0	NM_006617.1			4/4		hmmpanther:PTHR23239:SF131,hmmpanther:PTHR23239											0,1						LOW	1	SNV	1		0,1	1										PASS		rs774118029	.												A	2	1	42	156673081	156673081	T	A	1	0	0	0	0	0	0	0	1	10372	1567	55	4		4	NES	1	156673081	Silent	SNP	T	C3N-00203_TP	1194130	156673081	92283341	30	11978											
FCRL2	0	.	GRCh38	chr1	157767524	157767524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaactgacagacacagaGgggctatcagaaaagatttg	15	7	12	7	0	1	5	1	1	0	4	1	6	1	6	0	3	1	1	0	3	4	2	rs777058693		C3N-00203_TP	C3N-00203_NB	G	G																c.110C>A	p.Pro37His	p.P37H	ENST00000469986	1/2	312	245	67	309	309	0	strelka-varscan-mutect	FCRL2,missense_variant,p.Pro37His,ENST00000469986,;FCRL2,intron_variant,,ENST00000361516,NM_030764.3;FCRL2,intron_variant,,ENST00000368181,;FCRL2,non_coding_transcript_exon_variant,,ENST00000368178,;FCRL2,downstream_gene_variant,,ENST00000462774,;	T	ENST00000469986	Transcript	missense_variant	251/902	110/579	37/192	P/H	cCt/cAt	rs777058693	1		-1	FCRL2	HGNC	HGNC:14875	protein_coding			ENSP00000417393	Q96LA5		UPI000006D16A		deleterious(0.03)		1/2																			MODERATE		SNV	1			1										PASS		rs777058693	.												T	3	4	42	157767524	157767524	G	T	1	0	0	0	0	1	0	0	0	5658	1000	35	2		2	FCRL2	1	157767524	Missense_Mutation	SNP	G	C3N-00203_TP	1094443	157767524	91188898	31	11979											
CD1A	0	.	GRCh38	chr1	158256991	158256991	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaccctggaggtggccgcTggggaggcagctgacctgtc	6	6	17	12	1	0	1	0	1	0	0	1	3	0	3	3	6	2	4	3	6	1	0	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.810T>A	p.=	p.A270A	ENST00000289429	4/6	131	105	26	120	120	0	strelka-varscan-mutect	CD1A,synonymous_variant,p.=,ENST00000289429,NM_001763.2;	A	ENST00000289429	Transcript	synonymous_variant	1343/2096	810/984	270/327	A	gcT/gcA		1		1	CD1A	HGNC	HGNC:1634	protein_coding	YES	CCDS1174.1	ENSP00000289429	P06126		UPI0000161A54	NM_001763.2			4/6		Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF160,SMART_domains:SM00407,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	158256991	158256991	T	A	1	0	0	0	0	0	0	0	1	2677	1567	55	4		4	CD1A	1	158256991	Silent	SNP	T	C3N-00203_TP	489467	158256991	90699431	32	11980											
OR6Y1	0	.	GRCh38	chr1	158547158	158547158	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagccccatttccctggggCccacttcctctgcaatgtat	8	11	7	15	0	1	0	0	0	1	0	3	0	3	0	5	2	2	2	5	2	3	3	rs774241495		C3N-00203_TP	C3N-00203_NB	C	C																c.948G>T	p.=	p.G316G	ENST00000302617	1/1	147	113	34	110	110	0	strelka-varscan-mutect	OR6Y1,synonymous_variant,p.=,ENST00000302617,NM_001005189.1;	A	ENST00000302617	Transcript	synonymous_variant	948/978	948/978	316/325	G	ggG/ggT	rs774241495	1		-1	OR6Y1	HGNC	HGNC:14823	protein_coding	YES	CCDS30899.1	ENSP00000304807	Q8NGX8		UPI000004B1E2	NM_001005189.1			1/1		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF109																	LOW	1	SNV				1										PASS		rs774241495	.												A	2	1	42	158547158	158547158	C	A	1	0	0	0	0	0	0	0	1	11283	726	26	2		2	OR6Y1	1	158547158	Silent	SNP	C	C3N-00203_TP	290167	158547158	90409264	33	11981											
OR6Y1	0	.	GRCh38	chr1	158547723	158547723	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggattacaaatggctacaTagcggtcaaaggccatgata	14	9	11	7	1	1	1	1	1	0	0	1	2	1	2	1	4	3	1	1	4	6	4	rs751744042		C3N-00203_TP	C3N-00203_NB	T	T																c.383A>T	p.Tyr128Phe	p.Y128F	ENST00000302617	1/1	432	337	95	335	335	0	strelka-varscan-mutect	OR6Y1,missense_variant,p.Tyr128Phe,ENST00000302617,NM_001005189.1;	A	ENST00000302617	Transcript	missense_variant	383/978	383/978	128/325	Y/F	tAt/tTt	rs751744042,COSM5641414	1		-1	OR6Y1	HGNC	HGNC:14823	protein_coding	YES	CCDS30899.1	ENSP00000304807	Q8NGX8		UPI000004B1E2	NM_001005189.1	tolerated(0.07)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF109,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs751744042	.												A	3	1	42	158547723	158547723	T	A	1	0	0	0	0	1	0	0	0	11283	1406	49	4		4	OR6Y1	1	158547723	Missense_Mutation	SNP	T	C3N-00203_TP	565	158547723	90408699	34	11982											
OR10J3	0	.	GRCh38	chr1	159314532	159314532	+	Missense_Mutation	SNP	T	T	A																															taatggtcatgataatcacaTtgccagagagagtcagcagg																								novel		C3N-00203_TP	C3N-00203_NB	T	T																c.128A>T	p.Asn43Ile	p.N43I	ENST00000332217	1/1	405	290	115	389	389	0	strelka-varscan-mutect	OR10J3,missense_variant,p.Asn43Ile,ENST00000332217,NM_001004467.1;	A	ENST00000332217	Transcript	missense_variant	128/990	128/990	43/329	N/I	aAt/aTt		1		-1	OR10J3	HGNC	HGNC:14992	protein_coding	YES	CCDS30909.1	ENSP00000331789	Q5JRS4		UPI0000441EEF	NM_001004467.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF28,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	42	159314532	159314532	T	A	1	0	0	0	0	1	0	0	0	10988	1493	52	4		4	OR10J3	1	159314532	Missense_Mutation	SNP	T	C3N-00203_TP	766809	159314532	89641890	35	11983	272	2									
OR10J3	0	.	GRCh38	chr1	159314534	159314534	+	Silent	SNP	G	G	C																															atggtcatgataatcacattGccagagagagtcagcaggta																								novel		C3N-00203_TP	C3N-00203_NB	G	G																c.126C>G	p.=	p.G42G	ENST00000332217	1/1	401	286	115	386	386	0	strelka-varscan-mutect	OR10J3,synonymous_variant,p.=,ENST00000332217,NM_001004467.1;	C	ENST00000332217	Transcript	synonymous_variant	126/990	126/990	42/329	G	ggC/ggG		1		-1	OR10J3	HGNC	HGNC:14992	protein_coding	YES	CCDS30909.1	ENSP00000331789	Q5JRS4		UPI0000441EEF	NM_001004467.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF28,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												C	2	2	42	159314534	159314534	G	C	1	0	0	0	0	0	0	0	1	10988	1306	46	4		4	OR10J3	1	159314534	Silent	SNP	G	C3N-00203_TP	2	159314534	89641888	36	11984	272	2									
FCRL6	0	.	GRCh38	chr1	159809110	159809110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaggacggccacaccttgCaggacaggggccctcaccca	11	3	11	16	1	1	0	1	0	0	0	1	2	1	2	4	5	1	1	4	5	1	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.469C>G	p.Gln157Glu	p.Q157E	ENST00000368106	4/10	309	278	31	159	159	0	strelka-varscan-mutect	FCRL6,missense_variant,p.Gln164Glu,ENST00000321935,NM_001284217.1;FCRL6,missense_variant,p.Gln157Glu,ENST00000339348,;FCRL6,missense_variant,p.Gln157Glu,ENST00000368106,NM_001004310.2;FCRL6,intron_variant,,ENST00000392235,;FCRL6,intron_variant,,ENST00000536257,;FCRL6,non_coding_transcript_exon_variant,,ENST00000540741,;FCRL6,downstream_gene_variant,,ENST00000541729,;	G	ENST00000368106	Transcript	missense_variant	470/1306	469/1305	157/434	Q/E	Cag/Gag		1		1	FCRL6	HGNC	HGNC:31910	protein_coding	YES	CCDS30912.1	ENSP00000357086	Q6DN72		UPI0000D62020	NM_001004310.2	deleterious(0.02)		4/10		PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF62,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	42	159809110	159809110	C	G	1	0	0	0	0	1	0	0	0	5661	711	25	4		4	FCRL6	1	159809110	Missense_Mutation	SNP	C	C3N-00203_TP	494576	159809110	89147312	37	11985											
FCGR2B	0	.	GRCh38	chr1	161673151	161673151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacaagcaaaccacagtCacagtggtgattaccactgc	13	7	7	14	0	1	1	1	1	0	0	2	1	2	1	3	1	4	1	3	1	3	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.568C>A	p.His190Asn	p.H190N	ENST00000358671	4/8	206	163	43	226	226	0	strelka-varscan-mutect	FCGR2B,missense_variant,p.His190Asn,ENST00000358671,NM_004001.4,NM_001002275.2;FCGR2B,missense_variant,p.His183Asn,ENST00000367961,NM_001190828.1;FCGR2B,missense_variant,p.His190Asn,ENST00000236937,NM_001002274.2,NM_001002273.2;RP11-25K21.1,intron_variant,,ENST00000453111,;RP11-25K21.1,downstream_gene_variant,,ENST00000626340,;FCGR2B,non_coding_transcript_exon_variant,,ENST00000480308,;FCGR2B,non_coding_transcript_exon_variant,,ENST00000485778,;	A	ENST00000358671	Transcript	missense_variant	649/2115	568/933	190/310	H/N	Cac/Aac		1		1	FCGR2B	HGNC	HGNC:3618	protein_coding	YES	CCDS30924.1	ENSP00000351497	P31994		UPI0000001600	NM_004001.4,NM_001002275.2	deleterious(0.03)		4/8		PROSITE_profiles:PS50835,hmmpanther:PTHR11481:SF51,hmmpanther:PTHR11481,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	161673151	161673151	C	A	1	0	0	0	0	1	0	0	0	5645	826	29	2		2	FCGR2B	1	161673151	Missense_Mutation	SNP	C	C3N-00203_TP	1864041	161673151	87283271	38	11986											
SOAT1	0	.	GRCh38	chr1	179337847	179337847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctcagggatttgagaGcacctccagaacaaggaaag	13	8	10	10	0	2	2	1	1	2	2	4	5	3	4	2	2	2	1	2	2	3	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.340G>T	p.Ala114Ser	p.A114S	ENST00000367619	5/16	89	66	23	80	80	0	strelka-varscan-mutect	SOAT1,missense_variant,p.Ala56Ser,ENST00000540564,NM_001252511.1;SOAT1,missense_variant,p.Ala114Ser,ENST00000367619,NM_003101.5;SOAT1,missense_variant,p.Ala49Ser,ENST00000539888,NM_001252512.1;SOAT1,missense_variant,p.Ala114Ser,ENST00000426956,;	T	ENST00000367619	Transcript	missense_variant	483/6835	340/1653	114/550	A/S	Gca/Tca		1		1	SOAT1	HGNC	HGNC:11177	protein_coding	YES	CCDS1330.1	ENSP00000356591	P35610		UPI0000071233	NM_003101.5	tolerated(0.61)		5/16		hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF6,PIRSF_domain:PIRSF500230,PIRSF_domain:PIRSF000439																	MODERATE	1	SNV	1			1										PASS		rs1272007528	.												T	3	4	42	179337847	179337847	G	T	1	0	0	0	0	1	0	0	0	15231	971	34	2		2	SOAT1	1	179337847	Missense_Mutation	SNP	G	C3N-00203_TP	17664696	179337847	69618575	39	11987											
AXDND1	0	.	GRCh38	chr1	179445052	179445052	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagattattaaacatttacAggaaaactgggcagatattg	17	11	8	5	0	0	2	0	0	0	2	0	3	0	3	0	2	3	1	0	2	8	6	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.1646A>G	p.Gln549Arg	p.Q549R	ENST00000367618	16/26	284	256	28	303	303	0	strelka-varscan-mutect	AXDND1,missense_variant,p.Gln549Arg,ENST00000367618,NM_144696.5;AXDND1,missense_variant,p.Gln483Arg,ENST00000434088,;AXDND1,intron_variant,,ENST00000617277,;AXDND1,non_coding_transcript_exon_variant,,ENST00000461179,;AXDND1,intron_variant,,ENST00000511157,;HNRNPA1P54,downstream_gene_variant,,ENST00000411857,;MEF2AP1,downstream_gene_variant,,ENST00000454867,;	G	ENST00000367618	Transcript	missense_variant	2033/3642	1646/3039	549/1012	Q/R	cAg/cGg		1		1	AXDND1	HGNC	HGNC:26564	protein_coding	YES	CCDS30948.1	ENSP00000356590	Q5T1B0		UPI000022AC91	NM_144696.5	deleterious(0.02)		16/26		hmmpanther:PTHR23052																	MODERATE	1	SNV	1			1										PASS		rs1459327798	.												G	3	3	42	179445052	179445052	A	G	1	0	0	0	0	1	0	0	0	1392	188	7	5		5	AXDND1	1	179445052	Missense_Mutation	SNP	A	C3N-00203_TP	107205	179445052	69511370	40	11988											
TDRD5	0	.	GRCh38	chr1	179635666	179635666	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttttttttctaacttataGcaagtagaaacaaacaaatc	16	16	3	6	0	1	1	0	0	1	1	2	1	1	1	0	0	4	2	0	0	8	9	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1300-1G>T		p.X434_splice	ENST00000444136		129	86	43	121	120	1	strelka-varscan-mutect	TDRD5,splice_acceptor_variant,,ENST00000444136,NM_001199085.1,NM_001199089.1;TDRD5,splice_acceptor_variant,,ENST00000367614,NM_001199091.1;TDRD5,splice_acceptor_variant,,ENST00000294848,NM_173533.3;TDRD5,upstream_gene_variant,,ENST00000417329,;	T	ENST00000444136	Transcript	splice_acceptor_variant	-/3946	1300/3108	434/1035				1		1	TDRD5	HGNC	HGNC:20614	protein_coding	YES	CCDS55663.1	ENSP00000406052	Q8NAT2		UPI000022AC96	NM_001199085.1,NM_001199089.1				8/17																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	42	179635666	179635666	G	T	1	0	0	0	0	0	0	1	0	16143	985	34	2		2	TDRD5	1	179635666	Splice_Site	SNP	G	C3N-00203_TP	190614	179635666	69320756	41	11989											
CACNA1E	0	.	GRCh38	chr1	181720831	181720831	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaattttgataccttcccTgcagccatcatgactgtgtt	9	14	7	11	0	1	2	1	2	0	0	2	2	2	2	3	0	3	3	3	0	2	5			C3N-00203_TP	C3N-00203_NB	T	T																c.1932T>A	p.=	p.P644P	ENST00000367573	15/48	246	222	24	202	202	0	strelka-varscan-mutect	CACNA1E,synonymous_variant,p.=,ENST00000621791,NM_001205294.1;CACNA1E,synonymous_variant,p.=,ENST00000621551,;CACNA1E,synonymous_variant,p.=,ENST00000367567,;CACNA1E,synonymous_variant,p.=,ENST00000358338,;CACNA1E,synonymous_variant,p.=,ENST00000367570,NM_000721.3;CACNA1E,synonymous_variant,p.=,ENST00000367573,NM_001205293.1;CACNA1E,synonymous_variant,p.=,ENST00000357570,;CACNA1E,synonymous_variant,p.=,ENST00000360108,;CACNA1E,downstream_gene_variant,,ENST00000524607,;	A	ENST00000367573	Transcript	synonymous_variant	1932/7067	1932/6942	644/2313	P	ccT/ccA	COSM4941887,COSM4941888,COSM4941889,COSM4941890	1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1			15/48		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00167											1,1,1,1						LOW	1	SNV	1		1,1,1,1	1										PASS		.	.												A	2	1	42	181720831	181720831	T	A	1	0	0	0	0	0	0	0	1	2230	1567	55	4		4	CACNA1E	1	181720831	Silent	SNP	T	C3N-00203_TP	2085165	181720831	67235591	42	11990											
RGSL1	0	.	GRCh38	chr1	182474306	182474306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttgaaagtggagatccaaCttcttgacctctggcaggac	11	11	10	9	0	2	3	0	2	2	1	3	5	3	4	2	3	1	1	2	3	2	3	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1195C>A	p.Leu399Ile	p.L399I	ENST00000294854	6/22	346	305	41	326	326	0	strelka-varscan-mutect	RGSL1,missense_variant,p.Leu399Ile,ENST00000294854,NM_001137669.1;RGSL1,downstream_gene_variant,,ENST00000437548,;RGSL1,downstream_gene_variant,,ENST00000634679,;RGSL1,downstream_gene_variant,,ENST00000634723,;RGSL1,downstream_gene_variant,,ENST00000447374,;RGSL1,downstream_gene_variant,,ENST00000634626,;RGSL1,downstream_gene_variant,,ENST00000634758,;RGSL1,downstream_gene_variant,,ENST00000426890,;RGSL1,missense_variant,p.Leu434Ile,ENST00000443996,;RGSL1,non_coding_transcript_exon_variant,,ENST00000367561,;RGSL1,intron_variant,,ENST00000422241,;RGSL1,intron_variant,,ENST00000416676,;RGSL1,upstream_gene_variant,,ENST00000415960,;RGSL1,downstream_gene_variant,,ENST00000635407,;RGSL1,downstream_gene_variant,,ENST00000444367,;	A	ENST00000294854	Transcript	missense_variant	1215/3696	1195/3231	399/1076	L/I	Ctt/Att		1		1	RGSL1	HGNC	HGNC:18636	protein_coding	YES	CCDS58049.1	ENSP00000457748	A5PLK6		UPI000156571A	NM_001137669.1	deleterious(0)		6/22		hmmpanther:PTHR10845:SF173,hmmpanther:PTHR10845,Superfamily_domains:SSF48097																	MODERATE	1	SNV	1			1										PASS		rs1250316282	.												A	3	1	42	182474306	182474306	C	A	1	0	0	0	0	1	0	0	0	13486	565	20	2		2	RGSL1	1	182474306	Missense_Mutation	SNP	C	C3N-00203_TP	753475	182474306	66482116	43	11991											
TPR	0	.	GRCh38	chr1	186327605	186327605	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccaagatctatttgtagaGactgagaggtttcttcactg	10	13	10	8	0	3	3	1	1	2	3	3	5	3	3	1	1	0	2	1	1	3	5	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.5744C>G	p.Ser1915Cys	p.S1915C	ENST00000367478	40/51	368	279	89	333	333	0	strelka-varscan-mutect	TPR,missense_variant,p.Ser1915Cys,ENST00000367478,NM_003292.2;TPR,upstream_gene_variant,,ENST00000467810,;TPR,upstream_gene_variant,,ENST00000492973,;	C	ENST00000367478	Transcript	missense_variant	6041/9708	5744/7092	1915/2363	S/C	tCt/tGt		1		-1	TPR	HGNC	HGNC:12017	protein_coding	YES	CCDS41446.1	ENSP00000356448	P12270		UPI000046FCF4	NM_003292.2	deleterious(0)		40/51		hmmpanther:PTHR18898																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	186327605	186327605	G	C	1	0	0	0	0	1	0	0	0	16897	942	33	4		4	TPR	1	186327605	Missense_Mutation	SNP	G	C3N-00203_TP	3853299	186327605	62628817	44	11992											
CRB1	0	.	GRCh38	chr1	197427836	197427836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattggtggcctacctgaCaagcaagagactgaacttaa	14	9	9	9	0	0	3	0	2	0	1	0	4	0	3	2	2	4	1	2	2	6	4	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.2511C>A	p.Asp837Glu	p.D837E	ENST00000367400	7/12	458	338	120	398	398	0	strelka-varscan-mutect	CRB1,missense_variant,p.Asp218Glu,ENST00000367397,;CRB1,missense_variant,p.Asp768Glu,ENST00000535699,NM_001257965.1;CRB1,missense_variant,p.Asp837Glu,ENST00000367400,NM_201253.2;CRB1,missense_variant,p.Asp725Glu,ENST00000367399,NM_001193640.1;CRB1,intron_variant,,ENST00000538660,NM_001257966.1;CRB1,non_coding_transcript_exon_variant,,ENST00000480086,;CRB1,missense_variant,p.Asp837Glu,ENST00000484075,;	A	ENST00000367400	Transcript	missense_variant	2646/4932	2511/4221	837/1406	D/E	gaC/gaA		1		1	CRB1	HGNC	HGNC:2343	protein_coding	YES	CCDS1390.1	ENSP00000356370	P82279		UPI0000073345	NM_201253.2	tolerated(0.18)		7/12		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR24049,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs1485255522	.												A	3	1	42	197427836	197427836	C	A	1	0	0	0	0	1	0	0	0	3648	477	17	2		2	CRB1	1	197427836	Missense_Mutation	SNP	C	C3N-00203_TP	11100231	197427836	51528586	45	11993											
KIF14	0	.	GRCh38	chr1	200618001	200618001	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttgatatccaacttgctCtgagtaggtttcgttgtcaa	9	16	8	8	1	2	2	1	2	1	0	4	2	3	2	1	1	2	4	1	1	4	6	rs748610123		C3N-00203_TP	C3N-00203_NB	C	C																c.723G>C	p.Gln241His	p.Q241H	ENST00000367350	2/30	236	143	93	162	162	0	strelka-varscan-mutect	KIF14,missense_variant,p.Gln241His,ENST00000367350,NM_014875.2;KIF14,missense_variant,p.Gln241His,ENST00000614960,;	G	ENST00000367350	Transcript	missense_variant	1162/7274	723/4947	241/1648	Q/H	caG/caC	rs748610123	1		-1	KIF14	HGNC	HGNC:19181	protein_coding	YES	CCDS30963.1	ENSP00000356319	Q15058		UPI000012DDA3	NM_014875.2	tolerated(0.06)		2/30																			MODERATE	1	SNV	1			1										PASS		rs748610123	.												G	3	3	42	200618001	200618001	C	G	1	0	0	0	0	1	0	0	0	8140	912	32	4		4	KIF14	1	200618001	Missense_Mutation	SNP	C	C3N-00203_TP	3190165	200618001	48338421	46	11994											
KIF21B	0	.	GRCh38	chr1	200988785	200988785	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctgcacattgtagatGagggcctgcagctcggggtg	6	9	15	11	1	0	2	0	1	0	1	1	2	0	2	2	3	4	5	2	3	1	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.3279C>A	p.=	p.L1093L	ENST00000422435	22/35	101	58	43	72	72	0	strelka-varscan-mutect	KIF21B,synonymous_variant,p.=,ENST00000332129,NM_017596.3;KIF21B,synonymous_variant,p.=,ENST00000422435,NM_001252100.1;KIF21B,synonymous_variant,p.=,ENST00000461742,NM_001252102.1;KIF21B,synonymous_variant,p.=,ENST00000360529,NM_001252103.1;	T	ENST00000422435	Transcript	synonymous_variant	3596/5519	3279/4914	1093/1637	L	ctC/ctA		1		-1	KIF21B	HGNC	HGNC:29442	protein_coding	YES	CCDS58056.1	ENSP00000411831	O75037		UPI0000153E7C	NM_001252100.1			22/35		hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115,Superfamily_domains:SSF46579																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	42	200988785	200988785	G	T	1	0	0	0	0	0	0	0	1	8154	1277	45	2		2	KIF21B	1	200988785	Silent	SNP	G	C3N-00203_TP	370784	200988785	47967637	47	11995											
IPO9	0	.	GRCh38	chr1	201874852	201874852	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgactccaatgatatgtggGaggaccaggaggaggaagag	14	6	16	5	0	0	3	0	2	0	1	1	8	1	8	2	5	0	0	2	5	3	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.2854G>C	p.Glu952Gln	p.E952Q	ENST00000361565	22/24	177	123	54	159	159	0	strelka-varscan-mutect	IPO9,missense_variant,p.Glu952Gln,ENST00000361565,NM_018085.4;IPO9,missense_variant,p.Glu27Gln,ENST00000456707,;	C	ENST00000361565	Transcript	missense_variant	2923/11435	2854/3126	952/1041	E/Q	Gag/Cag		1		1	IPO9	HGNC	HGNC:19425	protein_coding	YES	CCDS1415.1	ENSP00000354742	Q96P70		UPI000007304B	NM_018085.4	deleterious(0.04)		22/24		hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF9,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	201874852	201874852	G	C	1	0	0	0	0	1	0	0	0	7702	1175	41	4		4	IPO9	1	201874852	Missense_Mutation	SNP	G	C3N-00203_TP	886067	201874852	47081570	48	11996											
PTPN7	0	.	GRCh38	chr1	202150310	202150310	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtttacacccacagacccaCctgtctagccgcagttggca	9	9	8	15	1	1	1	0	0	1	1	1	1	1	1	4	1	2	4	4	1	2	4			C3N-00203_TP	C3N-00203_NB	C	C																c.1304+1G>A		p.X435_splice	ENST00000309017		177	95	82	111	111	0	strelka-varscan-mutect	PTPN7,splice_donor_variant,,ENST00000309017,NM_002832.3;PTPN7,splice_donor_variant,,ENST00000367279,NM_080588.2;PTPN7,splice_donor_variant,,ENST00000477554,NM_001199797.1;PTPN7,downstream_gene_variant,,ENST00000477625,;PTPN7,downstream_gene_variant,,ENST00000476061,;PTPN7,downstream_gene_variant,,ENST00000629151,;PTPN7,non_coding_transcript_exon_variant,,ENST00000492977,;PTPN7,downstream_gene_variant,,ENST00000479092,;PTPN7,splice_donor_variant,,ENST00000495688,;PTPN7,splice_donor_variant,,ENST00000496197,;PTPN7,splice_donor_variant,,ENST00000480836,;PTPN7,splice_donor_variant,,ENST00000462815,;	T	ENST00000309017	Transcript	splice_donor_variant	-/3765	1304/1398	435/465			COSM4868178,COSM902294	1		-1	PTPN7	HGNC	HGNC:9659	protein_coding	YES	CCDS1423.2	ENSP00000309116	P35236		UPI00004701F6	NM_002832.3				9/9												1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												T	5	4	42	202150310	202150310	C	T	1	0	0	0	0	0	0	1	0	12947	521	18	3		3	PTPN7	1	202150310	Splice_Site	SNP	C	C3N-00203_TP	275458	202150310	46806112	49	11997											
REN	0	.	GRCh38	chr1	204159399	204159399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggagtcccagtccccacCtgttgtagtagaaagagaag	11	9	11	10	0	0	2	0	0	0	2	2	4	2	3	4	1	0	3	4	1	4	4	rs121917742		C3N-00203_TP	C3N-00203_NB	C	C																c.689G>T	p.Arg230Ile	p.R230I	ENST00000272190	5/10	473	430	43	305	304	1	strelka-varscan-mutect	REN,missense_variant,p.Arg192Ile,ENST00000638118,;REN,missense_variant,p.Arg230Ile,ENST00000272190,NM_000537.3;	A	ENST00000272190	Transcript	missense_variant,splice_region_variant	718/1447	689/1221	230/406	R/I	aGa/aTa	rs121917742,CM053392	1		-1	REN	HGNC	HGNC:9958	protein_coding	YES	CCDS30981.1	ENSP00000272190	P00797		UPI000000091F	NM_000537.3	deleterious(0)		5/10		Gene3D:2.40.70.10,Pfam_domain:PF00026,PROSITE_profiles:PS51767,hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF77,Superfamily_domains:SSF50630										pathogenic							MODERATE	1	SNV	1		1,1	1										PASS		rs121917742	.												A	3	1	42	204159399	204159399	C	A	1	0	0	0	0	1	0	0	0	13394	695	24	2		2	REN	1	204159399	Missense_Mutation	SNP	C	C3N-00203_TP	2009089	204159399	44797023	50	11998											
MDM4	0	.	GRCh38	chr1	204544617	204544617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcagagcagttaggtgttgGaataaaagttgaagctgctg	13	11	13	4	0	1	2	1	1	0	1	1	3	1	3	0	2	3	6	0	2	5	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.755G>T	p.Gly252Val	p.G252V	ENST00000367182	9/11	153	122	31	164	164	0	strelka-varscan	MDM4,missense_variant,p.Gly252Val,ENST00000367182,NM_002393.4;MDM4,missense_variant,p.Gly154Val,ENST00000614459,NM_001278517.1;MDM4,missense_variant,p.Gly137Val,ENST00000367179,;MDM4,3_prime_UTR_variant,,ENST00000391947,NM_001278516.1;MDM4,3_prime_UTR_variant,,ENST00000621032,;MDM4,intron_variant,,ENST00000454264,NM_001204171.1;MDM4,intron_variant,,ENST00000616250,NM_001278518.1;MDM4,intron_variant,,ENST00000612738,NM_001278519.1;MDM4,intron_variant,,ENST00000367183,NM_001204172.1;MDM4,intron_variant,,ENST00000444261,;MDM4,intron_variant,,ENST00000507825,;MDM4,non_coding_transcript_exon_variant,,ENST00000463049,;MDM4,non_coding_transcript_exon_variant,,ENST00000470908,;MDM4,downstream_gene_variant,,ENST00000462012,;MDM4,downstream_gene_variant,,ENST00000471783,;	T	ENST00000367182	Transcript	missense_variant	917/10073	755/1473	252/490	G/V	gGa/gTa		1		1	MDM4	HGNC	HGNC:6974	protein_coding	YES	CCDS1447.1	ENSP00000356150	O15151	A0A024R990	UPI000007467F	NM_002393.4	tolerated(0.14)		9/11		hmmpanther:PTHR13844,hmmpanther:PTHR13844:SF20,PIRSF_domain:PIRSF006748,PIRSF_domain:PIRSF500699																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	204544617	204544617	G	T	1	0	0	0	0	1	0	0	0	9352	1174	41	2		2	MDM4	1	204544617	Missense_Mutation	SNP	G	C3N-00203_TP	385218	204544617	44411805	51	11999											
RBBP5	0	.	GRCh38	chr1	205099751	205099751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatacttactacttgattcTgtgcccagatagataccact	12	13	6	10	0	1	3	0	1	1	2	1	4	1	3	2	0	5	0	2	0	6	7	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.968A>G	p.Gln323Arg	p.Q323R	ENST00000264515	9/14	132	117	15	109	109	0	strelka-varscan	RBBP5,missense_variant,p.Gln323Arg,ENST00000264515,NM_001193273.1,NM_005057.3;RBBP5,missense_variant,p.Gln323Arg,ENST00000367164,NM_001193272.1;	C	ENST00000264515	Transcript	missense_variant	1110/4404	968/1617	323/538	Q/R	cAg/cGg		1		-1	RBBP5	HGNC	HGNC:9888	protein_coding	YES	CCDS30983.1	ENSP00000264515	Q15291	A0A024R9B5	UPI00001A9CA5	NM_001193273.1,NM_005057.3	deleterious(0.02)		9/14		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF433,Superfamily_domains:SSF117289																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	205099751	205099751	T	C	1	0	0	0	0	1	0	0	0	13263	1580	55	5		5	RBBP5	1	205099751	Missense_Mutation	SNP	T	C3N-00203_TP	555134	205099751	43856671	52	12000											
PLXNA2	0	.	GRCh38	chr1	208042346	208042346	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagggccttctccacgtgCtgctgcccgtttccttgtac	3	14	9	15	2	2	0	1	0	1	0	4	0	3	0	4	1	4	4	4	1	1	5	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.4038G>T	p.Gln1346His	p.Q1346H	ENST00000367033	22/32	98	86	12	127	127	0	strelka-varscan	PLXNA2,missense_variant,p.Gln1346His,ENST00000367033,NM_025179.3;PLXNA2,upstream_gene_variant,,ENST00000463510,;	A	ENST00000367033	Transcript	missense_variant	4796/11444	4038/5685	1346/1894	Q/H	caG/caT		1		-1	PLXNA2	HGNC	HGNC:9100	protein_coding	YES	CCDS31013.1	ENSP00000356000	O75051		UPI000022B239	NM_025179.3	tolerated(0.13)		22/32		hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625,Pfam_domain:PF08337																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	208042346	208042346	C	A	1	0	0	0	0	1	0	0	0	12226	796	28	2		2	PLXNA2	1	208042346	Missense_Mutation	SNP	C	C3N-00203_TP	2942595	208042346	40914076	53	12001											
DNAH14	0	.	GRCh38	chr1	225140923	225140923	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactctcgaacaaaagctatActaggggcattgcttatcct	13	11	7	10	1	1	0	0	0	1	0	3	1	2	0	1	2	5	3	1	2	8	5	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.4359A>T	p.=	p.I1453I	ENST00000430092	27/84	349	270	79	282	282	0	strelka-varscan-mutect	DNAH14,synonymous_variant,p.=,ENST00000430092,NM_001373.1;DNAH14,synonymous_variant,p.=,ENST00000439375,;DNAH14,synonymous_variant,p.=,ENST00000445597,;DNAH14,synonymous_variant,p.=,ENST00000328556,;DNAH14,intron_variant,,ENST00000495456,;	T	ENST00000430092	Transcript	synonymous_variant	4574/13763	4359/13548	1453/4515	I	atA/atT		1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000414402	Q0VDD8		UPI000192C36D	NM_001373.1			27/84		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF254																	LOW		SNV	5			1										PASS		rs1033755281	.												T	2	4	42	225140923	225140923	A	T	1	0	0	0	0	0	0	0	1	4415	381	14	4		4	DNAH14	1	225140923	Silent	SNP	A	C3N-00203_TP	17098577	225140923	23815499	54	12002											
RYR2	0	.	GRCh38	chr1	237614367	237614367	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgagaacaaaaaacacGgccttccagggatcggcctc	13	6	10	12	2	0	2	0	2	0	1	3	4	1	3	3	3	2	0	3	3	4	1			C3N-00203_TP	C3N-00203_NB	G	G																c.5239G>C	p.Gly1747Arg	p.G1747R	ENST00000366574	37/105	297	240	57	274	274	0	strelka-varscan-mutect	RYR2,missense_variant,p.Gly1747Arg,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Gly1731Arg,ENST00000360064,;	C	ENST00000366574	Transcript	missense_variant	5556/16562	5239/14904	1747/4967	G/R	Ggc/Cgc	COSM358351	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.17)		37/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	42	237614367	237614367	G	C	1	0	0	0	0	1	0	0	0	14029	1116	39	4		4	RYR2	1	237614367	Missense_Mutation	SNP	G	C3N-00203_TP	12473444	237614367	11342055	55	12003											
RYR2	0	.	GRCh38	chr1	237627848	237627848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgagaccatggtccgatggGctcaggagtctgtcattgaa	9	10	13	9	1	3	2	2	2	1	1	4	5	4	3	2	3	0	1	2	3	1	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.6208G>T	p.Ala2070Ser	p.A2070S	ENST00000366574	41/105	135	113	22	128	128	0	strelka-varscan-mutect	RYR2,missense_variant,p.Ala2070Ser,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Ala2054Ser,ENST00000360064,;	T	ENST00000366574	Transcript	missense_variant	6525/16562	6208/14904	2070/4967	A/S	Gct/Tct		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.07)		41/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	237627848	237627848	G	T	1	0	0	0	0	1	0	0	0	14029	1203	42	2		2	RYR2	1	237627848	Missense_Mutation	SNP	G	C3N-00203_TP	13481	237627848	11328574	56	12004											
RGS7	0	.	GRCh38	chr1	240816358	240816358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttggaggtttagtttctgGtgtgggtgtgtgggtaggac	4	16	19	2	0	1	0	0	0	1	0	1	2	1	2	0	6	0	4	0	6	2	5	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.742C>A	p.Pro248Thr	p.P248T	ENST00000366565	11/18	360	273	87	325	325	0	strelka-varscan-mutect	RGS7,missense_variant,p.Pro248Thr,ENST00000366565,NM_002924.5;RGS7,missense_variant,p.Pro248Thr,ENST00000366564,NM_001282778.1;RGS7,missense_variant,p.Pro248Thr,ENST00000366563,NM_001282775.1;RGS7,missense_variant,p.Pro195Thr,ENST00000348120,NM_001282773.1;RGS7,missense_variant,p.Pro79Thr,ENST00000440928,;	T	ENST00000366565	Transcript	missense_variant	1124/2494	742/1464	248/487	P/T	Cca/Aca		1		-1	RGS7	HGNC	HGNC:10003	protein_coding	YES	CCDS31071.1	ENSP00000355523	P49802		UPI000040E182	NM_002924.5	tolerated(0.14)		11/18		Low_complexity_(Seg):seg,Gene3D:4.10.260.10,Superfamily_domains:SSF48670																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	240816358	240816358	G	T	1	0	0	0	0	1	0	0	0	13481	1261	44	2		2	RGS7	1	240816358	Missense_Mutation	SNP	G	C3N-00203_TP	3188510	240816358	8140064	57	12005											
NLRP3	0	.	GRCh38	chr1	247424564	247424564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggagatcctgggtttctCcgaggccaaaaggaaagagt	11	9	14	7	1	1	2	0	0	1	2	3	5	2	3	3	4	0	1	3	4	3	1			C3N-00203_TP	C3N-00203_NB	C	C																c.1121C>A	p.Ser374Tyr	p.S374Y	ENST00000336119	3/9	355	317	38	313	312	1	strelka-varscan	NLRP3,missense_variant,p.Ser374Tyr,ENST00000366497,NM_001127461.2;NLRP3,missense_variant,p.Ser374Tyr,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,missense_variant,p.Ser374Tyr,ENST00000366496,;NLRP3,missense_variant,p.Ser374Tyr,ENST00000391828,NM_001079821.2;NLRP3,missense_variant,p.Ser374Tyr,ENST00000348069,NM_183395.2;NLRP3,missense_variant,p.Ser374Tyr,ENST00000391827,NM_001127462.2;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	A	ENST00000336119	Transcript	missense_variant	1867/4170	1121/3111	374/1036	S/Y	tCc/tAc	COSM355549	1		1	NLRP3	HGNC	HGNC:16400	protein_coding	YES	CCDS1632.1	ENSP00000337383	Q96P20		UPI00001CE3AD	NM_004895.4,NM_001243133.1	deleterious(0)		3/9		PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4,Pfam_domain:PF05729,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	42	247424564	247424564	C	A	1	0	0	0	0	1	0	0	0	10516	855	30	2		2	NLRP3	1	247424564	Missense_Mutation	SNP	C	C3N-00203_TP	6608206	247424564	1531858	58	12006											
OR2G3	0	.	GRCh38	chr1	247605982	247605982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaaacccctccactatGtagtcatcatgaacccacgg	11	9	6	15	1	3	1	2	1	1	0	4	1	4	1	4	1	3	2	4	1	4	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.397G>T	p.Val133Leu	p.V133L	ENST00000320002	1/1	210	184	26	190	188	2	strelka-varscan	OR2G3,missense_variant,p.Val133Leu,ENST00000320002,NM_001001914.1;U6,downstream_gene_variant,,ENST00000637707,;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;	T	ENST00000320002	Transcript	missense_variant	397/930	397/930	133/309	V/L	Gta/Tta		1		1	OR2G3	HGNC	HGNC:15008	protein_coding	YES	CCDS31093.1	ENSP00000326301	Q8NGZ4	A0A126GVX0	UPI0000041CD9	NM_001001914.1	tolerated(0.12)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF300,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE		SNV				1										PASS		.	.												T	3	4	42	247605982	247605982	G	T	1	0	0	0	0	1	0	0	0	11077	1377	48	2		2	OR2G3	1	247605982	Missense_Mutation	SNP	G	C3N-00203_TP	181418	247605982	1350440	59	12007											
OR14A2	0	.	GRCh38	chr1	247723324	247723324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgaaaacagtgagatggggGaagcatgtggaaaaagcttt	15	8	15	3	0	0	2	0	2	0	1	0	5	0	4	0	3	3	2	0	3	5	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.720C>A	p.Phe240Leu	p.F240L	ENST00000366485	1/1	270	250	20	282	280	2	strelka-varscan	OR14A2,missense_variant,p.Phe240Leu,ENST00000366485,;RP11-634B7.5,intron_variant,,ENST00000426444,;RP11-634B7.4,intron_variant,,ENST00000449298,;RP11-634B7.5,intron_variant,,ENST00000419891,;	T	ENST00000366485	Transcript	missense_variant	720/945	720/945	240/314	F/L	ttC/ttA		1		-1	OR14A2	HGNC	HGNC:15024	protein_coding	YES		ENSP00000355441	Q96R54	A0A126GWG8	UPI000004A5E7		tolerated(1)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF346,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												T	3	4	42	247723324	247723324	G	T	1	0	0	0	0	1	0	0	0	11022	1165	41	2		2	OR14A2	1	247723324	Missense_Mutation	SNP	G	C3N-00203_TP	117342	247723324	1233098	60	12008											
OR2W3	0	.	GRCh38	chr1	247895676	247895676	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggatcctctttgtggtCatcctgatcgcgtacctcct	6	13	10	12	2	2	2	1	1	1	1	6	4	5	3	4	2	1	1	4	2	1	2	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.90C>A	p.=	p.V30V	ENST00000360358	1/1	226	199	27	225	225	0	strelka-varscan	OR2W3,synonymous_variant,p.=,ENST00000360358,NM_001001957.2;	A	ENST00000360358	Transcript	synonymous_variant	90/945	90/945	30/314	V	gtC/gtA		1		1	OR2W3	HGNC	HGNC:15021	protein_coding	YES	CCDS31099.1	ENSP00000353516	Q7Z3T1		UPI0000061EA8	NM_001001957.2			1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR26453:SF223,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												A	2	1	42	247895676	247895676	C	A	1	0	0	0	0	0	0	0	1	11111	813	29	2		2	OR2W3	1	247895676	Silent	SNP	C	C3N-00203_TP	172352	247895676	1060746	61	12009											
OR2L13	0	.	GRCh38	chr1	248099402	248099402	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggaatcacacttcaaaTgatttcattttgttgggtct	12	16	7	6	0	4	1	3	1	1	0	4	2	4	2	0	2	0	1	0	2	3	5	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.27T>A	p.Asn9Lys	p.N9K	ENST00000358120	2/2	94	69	25	111	111	0	strelka-varscan	OR2L13,missense_variant,p.Asn9Lys,ENST00000358120,NM_001304535.1,NM_175911.3;	A	ENST00000358120	Transcript	missense_variant	172/1692	27/939	9/312	N/K	aaT/aaA		1		1	OR2L13	HGNC	HGNC:19578	protein_coding	YES	CCDS1637.1	ENSP00000350836	Q8N349	A0A126GW96	UPI0000043517	NM_001304535.1,NM_175911.3	tolerated(0.07)		2/2		hmmpanther:PTHR26453:SF102,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	42	248099402	248099402	T	A	1	0	0	0	0	1	0	0	0	11084	1461	51	4		4	OR2L13	1	248099402	Missense_Mutation	SNP	T	C3N-00203_TP	203726	248099402	857020	62	12010											
GREB1	0	.	GRCh38	chr2	11633015	11633015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatctctgatgactcctGcgtgatgtggaacgtggtgg	6	13	15	7	2	1	4	0	4	1	0	3	5	2	5	1	3	2	0	1	3	1	0	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.4943G>A	p.Cys1648Tyr	p.C1648Y	ENST00000381486	28/33	304	238	66	214	214	0	strelka-varscan-mutect	GREB1,missense_variant,p.Cys1648Tyr,ENST00000381486,NM_014668.3;GREB1,missense_variant,p.Cys1648Tyr,ENST00000234142,;GREB1,missense_variant,p.Cys646Tyr,ENST00000396123,;	A	ENST00000381486	Transcript	missense_variant	5243/8484	4943/5850	1648/1949	C/Y	tGc/tAc		1		1	GREB1	HGNC	HGNC:24885	protein_coding	YES	CCDS42655.1	ENSP00000370896	Q4ZG55		UPI0000163937	NM_014668.3	deleterious(0)		28/33		Pfam_domain:PF15782,hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	42	11633015	11633015	G	A	1	0	0	0	0	1	0	0	0	6639	1319	46	3		3	GREB1	2	11633015	Missense_Mutation	SNP	G	C3N-00203_TP		11633015	230560514	63	12011											
FAM84A	0	.	GRCh38	chr2	14634365	14634365	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgacctgctggagctgcTgtggctgcagcccgcgccgg	3	6	17	15	5	0	0	0	0	0	0	0	2	0	1	3	4	5	5	3	4	0	0	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.386T>C	p.Leu129Pro	p.L129P	ENST00000295092	2/2	66	53	13	52	52	0	strelka-varscan-mutect	FAM84A,missense_variant,p.Leu129Pro,ENST00000295092,NM_145175.2;FAM84A,missense_variant,p.Leu129Pro,ENST00000331243,;AC011897.2,downstream_gene_variant,,ENST00000450715,;AC011897.2,downstream_gene_variant,,ENST00000418481,;FAM84A,upstream_gene_variant,,ENST00000497769,;FAM84A,upstream_gene_variant,,ENST00000464947,;	C	ENST00000295092	Transcript	missense_variant	674/6355	386/879	129/292	L/P	cTg/cCg		1		1	FAM84A	HGNC	HGNC:20743	protein_coding	YES	CCDS1684.1	ENSP00000295092	Q96KN4		UPI000013E203	NM_145175.2	deleterious(0)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR13943:SF38,hmmpanther:PTHR13943,Pfam_domain:PF04970																	MODERATE	1	SNV	1			1										PASS		rs1356905557	.												C	3	2	42	14634365	14634365	T	C	1	0	0	0	0	1	0	0	0	5499	1580	55	5		5	FAM84A	2	14634365	Missense_Mutation	SNP	T	C3N-00203_TP	3001350	14634365	227559164	64	12012											
APOB	0	.	GRCh38	chr2	21029939	21029939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttcatccccagtgcagtCatcttgaatctgttccatca	9	14	5	13	0	6	1	3	1	3	0	8	1	8	1	3	0	1	2	3	0	1	3	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1429G>A	p.Asp477Asn	p.D477N	ENST00000233242	11/29	643	517	126	437	437	0	strelka-varscan	APOB,missense_variant,p.Asp477Asn,ENST00000233242,NM_000384.2;APOB,missense_variant,p.Asp477Asn,ENST00000399256,;	T	ENST00000233242	Transcript	missense_variant	1557/14121	1429/13692	477/4563	D/N	Gac/Aac		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	tolerated(0.06)		11/29		PROSITE_profiles:PS51211,hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Pfam_domain:PF01347,Gene3D:1lshA02,SMART_domains:SM00638,Superfamily_domains:0040642																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	21029939	21029939	C	T	1	0	0	0	0	1	0	0	0	907	826	29	3		3	APOB	2	21029939	Missense_Mutation	SNP	C	C3N-00203_TP	6395574	21029939	221163590	65	12013											
OTOF	0	.	GRCh38	chr2	26516524	26516524	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttgaagagactcatctcCcaggaagtccccatcgtccc	9	9	7	16	1	3	2	1	1	2	1	7	4	5	3	4	1	0	0	4	1	2	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.403G>T	p.Gly135Ter	p.G135*	ENST00000272371	5/47	409	313	96	310	310	0	strelka-varscan	OTOF,stop_gained,p.Gly135Ter,ENST00000272371,NM_194248.2;OTOF,stop_gained,p.Gly135Ter,ENST00000403946,NM_001287489.1;	A	ENST00000272371	Transcript	stop_gained	530/7156	403/5994	135/1997	G/*	Gga/Tga		1		-1	OTOF	HGNC	HGNC:8515	protein_coding	YES	CCDS1725.1	ENSP00000272371	Q9HC10		UPI000013D94D	NM_194248.2			5/47		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	42	26516524	26516524	C	A	1	0	0	0	0	0	1	0	0	11369	632	22	2		2	OTOF	2	26516524	Nonsense_Mutation	SNP	C	C3N-00203_TP	5486585	26516524	215677005	66	12014											
ATRAID	0	.	GRCh38	chr2	27213180	27213180	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttctcttctgcagataTgcacccaatgtccagggagc	8	13	8	12	0	3	1	0	0	3	1	5	2	4	2	2	1	3	2	2	1	2	4	rs758303600		C3N-00203_TP	C3N-00203_NB	T	T																c.268T>A	p.Cys90Ser	p.C90S	ENST00000611786	2/7	187	133	54	113	113	0	strelka-varscan	ATRAID,missense_variant,p.Cys90Ser,ENST00000611786,NM_080592.3;ATRAID,missense_variant,p.Cys90Ser,ENST00000380171,;ATRAID,missense_variant,p.Cys35Ser,ENST00000606999,NM_001170795.1;ATRAID,5_prime_UTR_variant,,ENST00000405489,NM_016085.4;ATRAID,5_prime_UTR_variant,,ENST00000419744,;CAD,upstream_gene_variant,,ENST00000264705,NM_004341.3;CAD,upstream_gene_variant,,ENST00000403525,NM_001306079.1;SLC5A6,upstream_gene_variant,,ENST00000310574,NM_021095.2;SLC5A6,upstream_gene_variant,,ENST00000408041,;SLC5A6,upstream_gene_variant,,ENST00000412471,;SLC5A6,upstream_gene_variant,,ENST00000414408,;SLC5A6,upstream_gene_variant,,ENST00000401463,;SLC5A6,upstream_gene_variant,,ENST00000432106,;SLC5A6,upstream_gene_variant,,ENST00000426119,;SLC5A6,upstream_gene_variant,,ENST00000430186,;SLC5A6,upstream_gene_variant,,ENST00000428518,;SLC5A6,upstream_gene_variant,,ENST00000442731,;ATRAID,non_coding_transcript_exon_variant,,ENST00000484646,;SLC5A6,upstream_gene_variant,,ENST00000488743,;SLC5A6,upstream_gene_variant,,ENST00000445802,;ATRAID,upstream_gene_variant,,ENST00000472515,;ATRAID,upstream_gene_variant,,ENST00000491220,;	A	ENST00000611786	Transcript	missense_variant	441/1256	268/855	90/284	C/S	Tgc/Agc	rs758303600	1		1	ATRAID	HGNC	HGNC:24090	protein_coding	YES	CCDS1741.1	ENSP00000484228	Q6UW56		UPI0000456D96	NM_080592.3	deleterious(0)		2/7		hmmpanther:PTHR15926																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	27213180	27213180	T	A	1	0	0	0	0	1	0	0	0	1357	1478	51	4		4	ATRAID	2	27213180	Missense_Mutation	SNP	T	C3N-00203_TP	696656	27213180	214980349	67	12015											
C2orf71	0	.	GRCh38	chr2	29073226	29073226	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccactgtcctcagagcAtaaggggagaccctgcaccc	11	6	10	14	0	1	2	1	0	0	2	2	3	2	2	4	2	3	2	4	2	2	1	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.1036T>G	p.Cys346Gly	p.C346G	ENST00000331664	1/2	124	92	32	106	106	0	strelka-varscan	C2orf71,missense_variant,p.Cys346Gly,ENST00000331664,NM_001029883.2;	C	ENST00000331664	Transcript	missense_variant	1036/7044	1036/3867	346/1288	C/G	Tgc/Ggc		1		-1	C2orf71	HGNC	HGNC:34383	protein_coding	YES	CCDS42669.1	ENSP00000332809	A6NGG8		UPI0000251DD8	NM_001029883.2	tolerated(0.07)		1/2		Pfam_domain:PF15449,hmmpanther:PTHR22017																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	42	29073226	29073226	A	C	1	0	0	0	0	1	0	0	0	2045	217	8	5		5	C2orf71	2	29073226	Missense_Mutation	SNP	A	C3N-00203_TP	1860046	29073226	213120303	68	12016											
MSH6	0	.	GRCh38	chr2	47800519	47800519	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcagggctataatgtatGaagaaactacatacagcaag	18	7	9	7	0	0	2	0	1	0	1	0	2	0	2	0	1	5	4	0	1	8	5	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.2536G>T	p.Glu846Ter	p.E846*	ENST00000234420	4/10	145	111	34	129	129	0	strelka-varscan	MSH6,stop_gained,p.Glu846Ter,ENST00000234420,NM_000179.2;MSH6,stop_gained,p.Glu544Ter,ENST00000614496,NM_001281493.1;MSH6,stop_gained,p.Glu544Ter,ENST00000538136,NM_001281494.1;MSH6,stop_gained,p.Glu716Ter,ENST00000540021,NM_001281492.1;MSH6,stop_gained,p.Glu845Ter,ENST00000616033,;MSH6,5_prime_UTR_variant,,ENST00000622629,;FBXO11,intron_variant,,ENST00000405808,;MSH6,downstream_gene_variant,,ENST00000455383,;MSH6,downstream_gene_variant,,ENST00000411819,;MSH6,downstream_gene_variant,,ENST00000420813,;MSH6,3_prime_UTR_variant,,ENST00000445503,;FBXO11,intron_variant,,ENST00000434234,;MSH6,downstream_gene_variant,,ENST00000456246,;RPL36AP15,upstream_gene_variant,,ENST00000444514,;	T	ENST00000234420	Transcript	stop_gained	2688/7476	2536/4083	846/1360	E/*	Gaa/Taa		1		1	MSH6	HGNC	HGNC:7329	protein_coding	YES	CCDS1836.1	ENSP00000234420	P52701		UPI00000405F8	NM_000179.2			4/10		Gene3D:1.10.1420.10,Pfam_domain:PF05192,PIRSF_domain:PIRSF037677,SMART_domains:SM00533,Superfamily_domains:SSF48334																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	42	47800519	47800519	G	T	1	0	0	0	0	0	1	0	0	9857	1291	45	2		2	MSH6	2	47800519	Nonsense_Mutation	SNP	G	C3N-00203_TP	18727293	47800519	194393010	69	12017											
NRXN1	0	.	GRCh38	chr2	50497662	50497662	+	Frame_Shift_Del	DEL	G	G	-																															taccgtcgttctgtgatgatGccagtctctatgttatggaa																								novel		C3N-00203_TP	C3N-00203_NB	G	G																c.2670delC	p.Ile891SerfsTer22	p.I891Sfs*22	ENST00000404971	15/24	148	137	11	123	122	1	varindel-pindel	NRXN1,frameshift_variant,p.Ile851SerfsTer22,ENST00000406316,NM_004801.4;NRXN1,frameshift_variant,p.Ile843SerfsTer22,ENST00000625672,;NRXN1,frameshift_variant,p.Ile891SerfsTer22,ENST00000404971,NM_001135659.1;NRXN1,frameshift_variant,p.Ile851SerfsTer22,ENST00000401669,;NRXN1,frameshift_variant,p.Ile839SerfsTer22,ENST00000405472,;NRXN1,frameshift_variant,p.Ile843SerfsTer22,ENST00000630543,;NRXN1,frameshift_variant,p.Ile581SerfsTer22,ENST00000406859,;NRXN1,frameshift_variant,p.Ile566SerfsTer22,ENST00000402717,;NRXN1,upstream_gene_variant,,ENST00000625320,;NRXN1,downstream_gene_variant,,ENST00000495871,;NRXN1,non_coding_transcript_exon_variant,,ENST00000636298,;NRXN1,upstream_gene_variant,,ENST00000637889,;NRXN1,frameshift_variant,p.Ile569SerfsTer22,ENST00000331040,;NRXN1,non_coding_transcript_exon_variant,,ENST00000474354,;NRXN1,downstream_gene_variant,,ENST00000462791,;NRXN1,upstream_gene_variant,,ENST00000626192,;	-	ENST00000404971	Transcript	frameshift_variant	4010/7578	2670/4644	890/1547	G/X	ggC/gg		1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1			15/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	42	50497662	50497662	G	-	1	0	1	0	1	0	0	0	0	10724	1306	46	0		0	NRXN1	2	50497662	Frame_Shift_Del	DEL	G	C3N-00203_TP	2697143	50497662	191695867	70	12018											
CLHC1	0	.	GRCh38	chr2	55177641	55177641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaagtagcttaatgcCaacttttttcatgtctgcag	9	17	7	8	0	3	1	1	1	2	0	3	1	3	1	1	0	4	3	1	0	4	7			C3N-00203_TP	C3N-00203_NB	C	C																c.1525G>A	p.Gly509Ser	p.G509S	ENST00000401408	12/13	112	94	18	89	89	0	strelka-varscan	CLHC1,missense_variant,p.Gly509Ser,ENST00000401408,NM_152385.2;CLHC1,missense_variant,p.Gly509Ser,ENST00000407122,;CLHC1,missense_variant,p.Gly387Ser,ENST00000406076,NM_001135598.1;CLHC1,non_coding_transcript_exon_variant,,ENST00000494539,;CLHC1,downstream_gene_variant,,ENST00000487320,;CLHC1,3_prime_UTR_variant,,ENST00000428621,;CLHC1,3_prime_UTR_variant,,ENST00000411884,;	T	ENST00000401408	Transcript	missense_variant	1871/2248	1525/1761	509/586	G/S	Ggc/Agc	COSM3972279,COSM3972280	1		-1	CLHC1	HGNC	HGNC:26453	protein_coding	YES	CCDS33201.1	ENSP00000384869	Q8NHS4		UPI00004DEC65	NM_152385.2	deleterious(0.04)		12/13		Gene3D:1bpoA02,PIRSF_domain:PIRSF037469,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF11											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	42	55177641	55177641	C	T	1	0	0	0	0	1	0	0	0	3293	594	21	3		3	CLHC1	2	55177641	Missense_Mutation	SNP	C	C3N-00203_TP	4679979	55177641	187015888	71	12019											
REG3G	0	.	GRCh38	chr2	79027146	79027146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacagctattcatacatctGgattgggctccatgacccca	11	11	7	12	0	2	1	1	1	1	0	3	2	3	2	3	2	3	2	3	2	3	5	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.308G>T	p.Trp103Leu	p.W103L	ENST00000272324	4/6	183	144	39	158	158	0	strelka-varscan	REG3G,missense_variant,p.Trp103Leu,ENST00000272324,NM_001008387.2;REG3G,missense_variant,p.Trp103Leu,ENST00000393897,NM_198448.3;REG3G,intron_variant,,ENST00000409471,NM_001270040.1;REG3G,non_coding_transcript_exon_variant,,ENST00000490944,;REG3G,downstream_gene_variant,,ENST00000498312,;	T	ENST00000272324	Transcript	missense_variant	492/938	308/528	103/175	W/L	tGg/tTg		1		1	REG3G	HGNC	HGNC:29595	protein_coding	YES	CCDS1962.1	ENSP00000272324	Q6UW15		UPI0000048F1E	NM_001008387.2	deleterious(0)		4/6		PROSITE_profiles:PS50041,hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF60,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	79027146	79027146	G	T	1	0	0	0	0	1	0	0	0	13383	1357	47	2		2	REG3G	2	79027146	Missense_Mutation	SNP	G	C3N-00203_TP	23849505	79027146	163166383	72	12020											
REG3A	0	.	GRCh38	chr2	79158417	79158417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggatccctcagccccaCtgagcacagacaccaggttt	11	6	9	15	1	1	2	1	1	0	1	2	4	2	3	4	2	2	2	4	2	1	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.242G>T	p.Ser81Ile	p.S81I	ENST00000393878	3/5	244	204	40	213	213	0	strelka-varscan	REG3A,missense_variant,p.Ser81Ile,ENST00000393878,NM_138938.2;REG3A,missense_variant,p.Ser81Ile,ENST00000409839,NM_002580.2,NM_138937.2;REG3A,missense_variant,p.Ser81Ile,ENST00000305165,;AC011754.1,non_coding_transcript_exon_variant,,ENST00000415201,;REG3A,downstream_gene_variant,,ENST00000464746,;REG3A,downstream_gene_variant,,ENST00000490901,;	A	ENST00000393878	Transcript	missense_variant	590/1095	242/528	81/175	S/I	aGt/aTt		1		-1	REG3A	HGNC	HGNC:8601	protein_coding	YES	CCDS1965.1	ENSP00000377456	Q06141	Q53S56	UPI0000001C5B	NM_138938.2	deleterious(0)		3/5		PROSITE_profiles:PS50041,hmmpanther:PTHR22801:SF45,hmmpanther:PTHR22801,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	79158417	79158417	C	A	1	0	0	0	0	1	0	0	0	13382	565	20	2		2	REG3A	2	79158417	Missense_Mutation	SNP	C	C3N-00203_TP	131271	79158417	163035112	73	12021											
DNAH6	0	.	GRCh38	chr2	84525605	84525605	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatcataagcagccagaatAcatacatgaacagaaccgat	19	6	7	9	1	1	4	1	1	0	3	1	5	1	4	2	0	6	1	2	0	6	3	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.266A>T	p.Tyr89Phe	p.Y89F	ENST00000389394	3/77	413	276	137	352	352	0	strelka-varscan	DNAH6,missense_variant,p.Tyr89Phe,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Tyr89Phe,ENST00000237449,;DNAH6,non_coding_transcript_exon_variant,,ENST00000468661,;DNAH6,non_coding_transcript_exon_variant,,ENST00000476689,;DNAH6,intron_variant,,ENST00000494025,;	T	ENST00000389394	Transcript	missense_variant	403/12795	266/12477	89/4158	Y/F	tAc/tTc		1		1	DNAH6	HGNC	HGNC:2951	protein_coding	YES	CCDS46348.1	ENSP00000374045	Q9C0G6		UPI000163AC9D	NM_001370.1	deleterious_low_confidence(0.01)		3/77																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	42	84525605	84525605	A	T	1	0	0	0	0	1	0	0	0	4420	391	14	4		4	DNAH6	2	84525605	Missense_Mutation	SNP	A	C3N-00203_TP	5367188	84525605	157667924	74	12022											
DNAH6	0	.	GRCh38	chr2	84707660	84707660	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcactgggaacgtgttcAtagcagcagcttgtgtggcc	9	11	12	9	1	2	0	2	0	0	0	2	1	2	1	1	2	4	4	1	2	3	4	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.8992A>T	p.Ile2998Leu	p.I2998L	ENST00000389394	54/77	198	161	37	180	180	0	strelka-varscan	DNAH6,missense_variant,p.Ile2998Leu,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Ile2998Leu,ENST00000237449,;	T	ENST00000389394	Transcript	missense_variant	9129/12795	8992/12477	2998/4158	I/L	Ata/Tta		1		1	DNAH6	HGNC	HGNC:2951	protein_coding	YES	CCDS46348.1	ENSP00000374045	Q9C0G6		UPI000163AC9D	NM_001370.1	tolerated(0.32)		54/77		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136,Pfam_domain:PF12777																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	42	84707660	84707660	A	T	1	0	0	0	0	1	0	0	0	4420	217	8	4		4	DNAH6	2	84707660	Missense_Mutation	SNP	A	C3N-00203_TP	182055	84707660	157485869	75	12023											
CHMP3	0	.	GRCh38	chr2	86542291	86542291	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctcatttcctttcttaTcttcaatgaccactcattga	10	17	2	12	0	5	2	3	2	3	0	7	2	6	2	2	0	1	0	2	0	3	5	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.67A>T	p.Ile23Leu	p.I23L	ENST00000263856	2/6	241	191	50	257	257	0	strelka-varscan	CHMP3,missense_variant,p.Ile23Leu,ENST00000263856,NM_016079.3;CHMP3,missense_variant,p.Ile23Leu,ENST00000409727,NM_001193517.1;RNF103-CHMP3,missense_variant,p.Ile52Leu,ENST00000604011,NM_001198954.1;RNF103-CHMP3,missense_variant,p.Ile130Leu,ENST00000440757,;CHMP3,intron_variant,,ENST00000409225,NM_001005753.2;CHMP3,non_coding_transcript_exon_variant,,ENST00000485465,;CHMP3,non_coding_transcript_exon_variant,,ENST00000393773,;CHMP3,non_coding_transcript_exon_variant,,ENST00000486404,;CHMP3,non_coding_transcript_exon_variant,,ENST00000409810,;CHMP3,non_coding_transcript_exon_variant,,ENST00000466032,;	A	ENST00000263856	Transcript	missense_variant	196/3171	67/669	23/222	I/L	Ata/Tta		1		-1	CHMP3	HGNC	HGNC:29865	protein_coding	YES	CCDS33236.1	ENSP00000263856	Q9Y3E7		UPI000006E953	NM_016079.3	tolerated(1)		2/6		Pfam_domain:PF03357,hmmpanther:PTHR10476,hmmpanther:PTHR10476:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	86542291	86542291	T	A	1	0	0	0	0	1	0	0	0	3115	1435	50	4		4	CHMP3	2	86542291	Missense_Mutation	SNP	T	C3N-00203_TP	1834631	86542291	155651238	76	12024											
TMEM131	0	.	GRCh38	chr2	97796305	97796305	+	Missense_Mutation	SNP	C	C	A																															catatccttcacatgagtatCcactgatttcaatggtttct																								novel		C3N-00203_TP	C3N-00203_NB	C	C																c.3113G>T	p.Gly1038Val	p.G1038V	ENST00000186436	28/41	167	132	35	213	212	1	strelka-varscan	TMEM131,missense_variant,p.Gly1038Val,ENST00000186436,NM_015348.1;TMEM131,missense_variant,p.Gly17Val,ENST00000409721,;TMEM131,non_coding_transcript_exon_variant,,ENST00000480724,;	A	ENST00000186436	Transcript	missense_variant	3342/6640	3113/5652	1038/1883	G/V	gGa/gTa		1		-1	TMEM131	HGNC	HGNC:30366	protein_coding	YES	CCDS46368.1	ENSP00000186436	Q92545		UPI00006C0498	NM_015348.1	deleterious(0)		28/41		hmmpanther:PTHR22050:SF1,hmmpanther:PTHR22050																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	42	97796305	97796305	C	A	1	0	0	0	0	1	0	0	0	16488	855	30	2		2	TMEM131	2	97796305	Missense_Mutation	SNP	C	C3N-00203_TP	11254014	97796305	144397224	77	12025	273	2									
TMEM131	0	.	GRCh38	chr2	97796306	97796306	+	Nonsense_Mutation	SNP	C	C	A																															atatccttcacatgagtatcCactgatttcaatggtttcta																								novel		C3N-00203_TP	C3N-00203_NB	C	C																c.3112G>T	p.Gly1038Ter	p.G1038*	ENST00000186436	28/41	161	123	38	217	216	1	strelka-varscan	TMEM131,stop_gained,p.Gly1038Ter,ENST00000186436,NM_015348.1;TMEM131,stop_gained,p.Gly17Ter,ENST00000409721,;TMEM131,non_coding_transcript_exon_variant,,ENST00000480724,;	A	ENST00000186436	Transcript	stop_gained	3341/6640	3112/5652	1038/1883	G/*	Gga/Tga		1		-1	TMEM131	HGNC	HGNC:30366	protein_coding	YES	CCDS46368.1	ENSP00000186436	Q92545		UPI00006C0498	NM_015348.1			28/41		hmmpanther:PTHR22050:SF1,hmmpanther:PTHR22050																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	42	97796306	97796306	C	A	1	0	0	0	0	0	1	0	0	16488	603	21	2		2	TMEM131	2	97796306	Nonsense_Mutation	SNP	C	C3N-00203_TP	1	97796306	144397223	78	12026	273	2									
TXNDC9	0	.	GRCh38	chr2	99322189	99322189	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggacaatattgccagaTgtctgtctagtattttacac	10	16	7	8	0	3	1	0	0	3	1	3	2	3	2	1	1	2	1	1	1	5	7	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.329A>C	p.His110Pro	p.H110P	ENST00000264255	4/5	174	135	39	137	137	0	strelka-varscan	TXNDC9,missense_variant,p.His110Pro,ENST00000264255,NM_005783.3;TXNDC9,missense_variant,p.His110Pro,ENST00000409434,;TXNDC9,missense_variant,p.His110Pro,ENST00000409705,;TXNDC9,3_prime_UTR_variant,,ENST00000434323,;RP11-111H13.1,intron_variant,,ENST00000465095,;TXNDC9,3_prime_UTR_variant,,ENST00000422767,;TXNDC9,3_prime_UTR_variant,,ENST00000438680,;TXNDC9,non_coding_transcript_exon_variant,,ENST00000463385,;RP11-111H13.1,intron_variant,,ENST00000424491,;	G	ENST00000264255	Transcript	missense_variant	585/1637	329/681	110/226	H/P	cAt/cCt		1		-1	TXNDC9	HGNC	HGNC:24110	protein_coding	YES	CCDS2044.1	ENSP00000264255	O14530		UPI0000124E09	NM_005783.3	deleterious(0)		4/5		hmmpanther:PTHR21148,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	42	99322189	99322189	T	G	1	0	0	0	0	1	0	0	0	17316	1464	51	5		5	TXNDC9	2	99322189	Missense_Mutation	SNP	T	C3N-00203_TP	1525883	99322189	142871340	79	12027											
IL18RAP	0	.	GRCh38	chr2	102451976	102451976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtgaaaaaagctctcaGggttttgcccacagttactt	10	13	8	10	1	2	1	1	1	2	0	4	1	2	1	1	1	3	3	1	1	4	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1595G>A	p.Arg532Lys	p.R532K	ENST00000264260	12/12	174	136	38	140	140	0	strelka-varscan	IL18RAP,missense_variant,p.Arg532Lys,ENST00000264260,NM_003853.3;IL18RAP,missense_variant,p.Arg390Lys,ENST00000409369,;	A	ENST00000264260	Transcript	missense_variant	2184/2773	1595/1800	532/599	R/K	aGg/aAg		1		1	IL18RAP	HGNC	HGNC:5989	protein_coding	YES	CCDS2061.1	ENSP00000264260	O95256		UPI0000071CAF	NM_003853.3	tolerated(0.14)		12/12		Gene3D:3.40.50.10140,Pfam_domain:PF01582,Prints_domain:PR01537,PROSITE_profiles:PS50104,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF23,SMART_domains:SM00255,Superfamily_domains:SSF52200																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	102451976	102451976	G	A	1	0	0	0	0	1	0	0	0	7556	1000	35	3		3	IL18RAP	2	102451976	Missense_Mutation	SNP	G	C3N-00203_TP	3129787	102451976	139741553	80	12028											
MRPS9	0	.	GRCh38	chr2	105088988	105088989	+	Frame_Shift_Del	DEL	TA	TA	-																															attttgtttgccataggatgTatatggaatgttactcaatt																								novel		C3N-00203_TP	C3N-00203_NB	TA	TA																c.497_498delAT	p.Tyr166TrpfsTer36	p.Y166Wfs*36	ENST00000258455	6/11	127	105	22	107	107	0	sindel-varindel-pindel	MRPS9,frameshift_variant,p.Tyr166TrpfsTer36,ENST00000258455,NM_182640.2;MRPS9,upstream_gene_variant,,ENST00000472220,;MRPS9,upstream_gene_variant,,ENST00000413583,;	-	ENST00000258455	Transcript	frameshift_variant	604-605/1500	494-495/1191	165/396	V/X	gTA/g		1		1	MRPS9	HGNC	HGNC:14501	protein_coding	YES	CCDS2065.1	ENSP00000258455	P82933		UPI00000467F9	NM_182640.2			6/11		hmmpanther:PTHR21569,hmmpanther:PTHR21569:SF1																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	42	105088988	105088988	TA	-	1	0	1	0	1	0	0	0	0	9826	1652	57	0		0	MRPS9	2	105088988	Frame_Shift_Del	DEL	TA	C3N-00203_TP	2637012	105088988	137104541	81	12029											
CCDC93	0	.	GRCh38	chr2	118000913	118000913	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccttggcaggaccgagaCaattttttctgacagagctc	10	11	9	11	1	1	3	0	1	1	2	3	5	2	4	2	2	1	2	2	2	1	4	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.271G>T	p.Val91Phe	p.V91F	ENST00000376300	4/24	244	211	33	169	169	0	strelka-varscan	CCDC93,missense_variant,p.Val91Phe,ENST00000376300,NM_019044.4;CCDC93,missense_variant,p.Val91Phe,ENST00000319432,;AC009303.1,intron_variant,,ENST00000627670,;AC009303.1,intron_variant,,ENST00000588042,;AC009303.1,intron_variant,,ENST00000590516,;AC009303.1,intron_variant,,ENST00000627106,;AC009303.1,downstream_gene_variant,,ENST00000585381,;AC009303.1,downstream_gene_variant,,ENST00000588733,;RP11-98C1.2,downstream_gene_variant,,ENST00000591103,;AC009303.1,downstream_gene_variant,,ENST00000630241,;AC009303.1,downstream_gene_variant,,ENST00000629927,;AC009303.1,downstream_gene_variant,,ENST00000627378,;AC009303.1,downstream_gene_variant,,ENST00000413179,;CCDC93,upstream_gene_variant,,ENST00000460781,;CCDC93,non_coding_transcript_exon_variant,,ENST00000474006,;	A	ENST00000376300	Transcript	missense_variant	409/6899	271/1896	91/631	V/F	Gtc/Ttc		1		-1	CCDC93	HGNC	HGNC:25611	protein_coding	YES	CCDS2121.2	ENSP00000365477	Q567U6		UPI0000207DEC	NM_019044.4	deleterious(0)		4/24		Pfam_domain:PF09762,hmmpanther:PTHR16441																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	118000913	118000913	C	A	1	0	0	0	0	1	0	0	0	2570	478	17	2		2	CCDC93	2	118000913	Missense_Mutation	SNP	C	C3N-00203_TP	12911925	118000913	124192616	82	12030											
CNTNAP5	0	.	GRCh38	chr2	124763696	124763696	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgatactggctttctttcCttcaaagaccacttgcctgt	9	15	6	11	0	2	2	1	1	1	1	3	2	3	2	3	1	2	1	3	1	3	5	rs753128638		C3N-00203_TP	C3N-00203_NB	C	C																c.2256C>A	p.=	p.S752S	ENST00000431078	15/24	222	120	102	181	181	0	strelka-varscan	CNTNAP5,synonymous_variant,p.=,ENST00000431078,NM_130773.3;	A	ENST00000431078	Transcript	synonymous_variant	2620/5284	2256/3921	752/1306	S	tcC/tcA	rs753128638	1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3			15/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF665																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	124763696	124763696	C	A	1	0	0	0	0	0	0	0	1	3432	668	24	2		2	CNTNAP5	2	124763696	Silent	SNP	C	C3N-00203_TP	6762783	124763696	117429833	83	12031											
POTEI	0	.	GRCh38	chr2	130509018	130509018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgctcttgccactccccCtgcagcaggggaagcagtgg	6	8	13	14	1	1	0	0	0	1	0	2	1	2	1	3	3	5	5	3	3	1	2	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.218G>T	p.Arg73Met	p.R73M	ENST00000451531	1/15	820	642	178	665	664	1	strelka-varscan	POTEI,missense_variant,p.Arg73Met,ENST00000451531,NM_001277406.1;POTEI,missense_variant,p.Arg73Met,ENST00000631234,;POTEI,missense_variant,p.Arg73Met,ENST00000615053,;	A	ENST00000451531	Transcript	missense_variant	649/7020	218/3228	73/1075	R/M	aGg/aTg		1		-1	POTEI	HGNC	HGNC:37093	protein_coding	YES	CCDS59431.1	ENSP00000392718	P0CG38		UPI00006C04CB	NM_001277406.1	deleterious_low_confidence(0)		1/15		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	130509018	130509018	C	A	1	0	0	0	0	1	0	0	0	12382	681	24	2		2	POTEI	2	130509018	Missense_Mutation	SNP	C	C3N-00203_TP	5745322	130509018	111684511	84	12032											
LCT	0	.	GRCh38	chr2	135808896	135808896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgagcaaaccagcccaGggagaactgcagcattcggt	11	5	15	10	1	0	2	0	1	0	1	1	3	0	2	2	4	6	3	2	4	2	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.3451C>A	p.Leu1151Met	p.L1151M	ENST00000264162	8/17	145	113	32	98	98	0	strelka-varscan	LCT,missense_variant,p.Leu1151Met,ENST00000264162,NM_002299.2;Y_RNA,downstream_gene_variant,,ENST00000363794,;LCT,missense_variant,p.Leu583Met,ENST00000452974,;	T	ENST00000264162	Transcript	missense_variant	3462/6279	3451/5784	1151/1927	L/M	Ctg/Atg		1		-1	LCT	HGNC	HGNC:6530	protein_coding	YES	CCDS2178.1	ENSP00000264162	P09848		UPI000013D4D2	NM_002299.2	tolerated(0.08)		8/17		hmmpanther:PTHR10353,hmmpanther:PTHR10353:SF38,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	135808896	135808896	G	T	1	0	0	0	0	1	0	0	0	8599	991	35	2		2	LCT	2	135808896	Missense_Mutation	SNP	G	C3N-00203_TP	5299878	135808896	106384633	85	12033											
SLC4A10	0	.	GRCh38	chr2	161947680	161947680	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttccacagttactctgTcagccaccctgaagcagttc	8	13	6	14	0	3	1	1	1	2	0	5	1	4	1	3	0	3	3	3	0	2	4	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.2218T>C	p.Ser740Pro	p.S740P	ENST00000446997	17/27	278	210	68	223	223	0	strelka-varscan	SLC4A10,missense_variant,p.Ser721Pro,ENST00000375514,NM_001178016.1;SLC4A10,missense_variant,p.Ser710Pro,ENST00000415876,NM_022058.3;SLC4A10,missense_variant,p.Ser740Pro,ENST00000446997,NM_001178015.1;SLC4A10,missense_variant,p.Ser710Pro,ENST00000272716,;SLC4A10,missense_variant,p.Ser740Pro,ENST00000421911,;SLC4A10,3_prime_UTR_variant,,ENST00000446228,;	C	ENST00000446997	Transcript	missense_variant	2311/5551	2218/3357	740/1118	S/P	Tca/Cca		1		1	SLC4A10	HGNC	HGNC:13811	protein_coding	YES	CCDS54411.1	ENSP00000393066	Q6U841		UPI00001D4707	NM_001178015.1	deleterious(0)		17/27		Transmembrane_helices:TMhelix,hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	161947680	161947680	T	C	1	0	0	0	0	1	0	0	0	14928	1667	58	5		5	SLC4A10	2	161947680	Missense_Mutation	SNP	T	C3N-00203_TP	26138784	161947680	80245849	86	12034											
DPP4	0	.	GRCh38	chr2	162018729	162018729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggagctcagacttacCggaacatctcagctgataat	12	8	9	12	1	2	2	2	1	1	1	3	4	2	4	2	2	4	2	2	2	3	2	rs201959805		C3N-00203_TP	C3N-00203_NB	C	C																c.1420G>T	p.Gly474Cys	p.G474C	ENST00000360534	16/26	100	82	18	105	104	1	strelka-varscan	DPP4,missense_variant,p.Gly474Cys,ENST00000360534,NM_001935.3;DPP4,splice_region_variant,,ENST00000468903,;DPP4,upstream_gene_variant,,ENST00000491591,;DPP4,splice_region_variant,,ENST00000434918,;DPP4,splice_region_variant,,ENST00000490286,;DPP4,upstream_gene_variant,,ENST00000494507,;	A	ENST00000360534	Transcript	missense_variant,splice_region_variant	1981/3904	1420/2301	474/766	G/C	Ggt/Tgt	rs201959805	1		-1	DPP4	HGNC	HGNC:3009	protein_coding	YES	CCDS2216.1	ENSP00000353731	P27487		UPI000004F7BF	NM_001935.3	deleterious(0)		16/26		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF128,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	162018729	162018729	C	A	1	0	0	0	0	1	0	0	0	4544	666	23	1		1	DPP4	2	162018729	Missense_Mutation	SNP	C	C3N-00203_TP	71049	162018729	80174800	87	12035											
KCNH7	0	.	GRCh38	chr2	162446124	162446124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctattttggcgggatcaCttaccacttcttcattctga	7	17	7	10	1	4	1	2	1	2	0	4	2	4	2	1	2	2	1	1	2	2	8	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1448G>T	p.Ser483Ile	p.S483I	ENST00000332142	7/16	306	246	60	250	250	0	strelka-varscan	KCNH7,missense_variant,p.Ser483Ile,ENST00000332142,NM_033272.3;KCNH7,missense_variant,p.Ser383Ile,ENST00000618399,;KCNH7,missense_variant,p.Ser476Ile,ENST00000328032,NM_173162.2;KCNH7,missense_variant,p.Ser374Ile,ENST00000621889,;	A	ENST00000332142	Transcript	missense_variant	1548/4113	1448/3591	483/1196	S/I	aGt/aTt		1		-1	KCNH7	HGNC	HGNC:18863	protein_coding	YES	CCDS2219.1	ENSP00000331727	Q9NS40		UPI0000167D11	NM_033272.3	deleterious(0)		7/16		hmmpanther:PTHR10217:SF466,hmmpanther:PTHR10217,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	162446124	162446124	C	A	1	0	0	0	0	1	0	0	0	7953	565	20	2		2	KCNH7	2	162446124	Missense_Mutation	SNP	C	C3N-00203_TP	427395	162446124	79747405	88	12036											
ITGA6	0	.	GRCh38	chr2	172491266	172491266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaacatcagatgcccgctgCgggggctggacagcaaggcg	9	5	16	11	3	1	2	1	1	0	1	1	3	1	3	1	4	4	3	1	4	2	0	rs765042466		C3N-00203_TP	C3N-00203_NB	C	C																c.2824C>T	p.Arg942Trp	p.R942W	ENST00000409080	22/25	646	419	227	380	380	0	strelka-varscan	ITGA6,missense_variant,p.Arg942Trp,ENST00000264107,NM_000210.2;ITGA6,missense_variant,p.Arg942Trp,ENST00000409080,NM_001079818.1;ITGA6,missense_variant,p.Arg823Trp,ENST00000409532,;ITGA6,missense_variant,p.Arg981Trp,ENST00000442250,;ITGA6,missense_variant,p.Arg937Trp,ENST00000458358,;ITGA6,missense_variant,p.Arg109Trp,ENST00000416789,;AC093818.1,intron_variant,,ENST00000442417,;ITGA6,non_coding_transcript_exon_variant,,ENST00000475302,;ITGA6,downstream_gene_variant,,ENST00000469534,;ITGA6,downstream_gene_variant,,ENST00000470259,;	T	ENST00000409080	Transcript	missense_variant	2824/5306	2824/3276	942/1091	R/W	Cgg/Tgg	rs765042466	1		1	ITGA6	HGNC	HGNC:6142	protein_coding	YES	CCDS46451.1	ENSP00000386896	P23229		UPI0000EA87E5	NM_001079818.1	tolerated(0.12)		22/25		Gene3D:1jv2A04,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF9,Superfamily_domains:SSF69179																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	42	172491266	172491266	C	T	1	0	0	0	0	1	0	0	0	7787	759	27	1		1	ITGA6	2	172491266	Missense_Mutation	SNP	C	C3N-00203_TP	10045142	172491266	69702263	89	12037											
HNRNPA3	0	.	GRCh38	chr2	177215869	177215869	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggttgatgggcgtgtagtGgaaccaaagagagctgtttc	11	10	15	5	1	0	2	0	1	0	1	1	4	0	3	1	3	2	4	1	3	4	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.315G>T	p.=	p.V105V	ENST00000392524	3/11	130	72	58	92	92	0	strelka-varscan	HNRNPA3,synonymous_variant,p.=,ENST00000411529,;HNRNPA3,synonymous_variant,p.=,ENST00000392524,NM_194247.2;HNRNPA3,synonymous_variant,p.=,ENST00000435711,;HNRNPA3,upstream_gene_variant,,ENST00000432457,;HNRNPA3,downstream_gene_variant,,ENST00000581696,;AC079305.8,upstream_gene_variant,,ENST00000455416,;HNRNPA3,upstream_gene_variant,,ENST00000483137,;	T	ENST00000392524	Transcript	synonymous_variant	552/2067	315/1137	105/378	V	gtG/gtT		1		1	HNRNPA3	HGNC	HGNC:24941	protein_coding	YES	CCDS2273.1	ENSP00000376309	P51991		UPI00001BE8DE	NM_194247.2			3/11		PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF392,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	42	177215869	177215869	G	T	1	0	0	0	0	0	0	0	1	7151	1335	47	2		2	HNRNPA3	2	177215869	Silent	SNP	G	C3N-00203_TP	4724603	177215869	64977660	90	12038											
RBM45	0	.	GRCh38	chr2	178112671	178112671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacctgagtcggtgctgaGggagcgcttctcgccttttg	5	11	13	12	3	1	2	0	2	1	0	3	3	1	3	2	2	2	2	2	2	0	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.125G>T	p.Arg42Met	p.R42M	ENST00000286070	1/10	522	427	95	343	343	0	strelka-varscan	RBM45,missense_variant,p.Arg42Met,ENST00000616198,;RBM45,missense_variant,p.Arg42Met,ENST00000286070,NM_152945.2;PDE11A,upstream_gene_variant,,ENST00000358450,NM_001077197.1;RBM45,non_coding_transcript_exon_variant,,ENST00000424000,;	T	ENST00000286070	Transcript	missense_variant	217/1785	125/1425	42/474	R/M	aGg/aTg		1		1	RBM45	HGNC	HGNC:24468	protein_coding	YES	CCDS33335.1	ENSP00000286070	Q8IUH3		UPI00001AEAD8	NM_152945.2	deleterious(0)		1/10		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF389,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	178112671	178112671	G	T	1	0	0	0	0	1	0	0	0	13305	1000	35	2		2	RBM45	2	178112671	Missense_Mutation	SNP	G	C3N-00203_TP	896802	178112671	64080858	91	12039											
TTN	0	.	GRCh38	chr2	178565707	178565707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccccaggactctgctacCgccatcatgttcaggtttct	7	12	8	14	1	4	0	2	0	2	0	4	1	4	1	4	2	3	4	4	2	2	4	rs369941201		C3N-00203_TP	C3N-00203_NB	C	C																c.80425G>T	p.Gly26809Cys	p.G26809C	ENST00000589042	326/363	436	280	156	293	291	2	strelka-varscan	TTN,missense_variant,p.Gly26809Cys,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Gly25168Cys,ENST00000591111,;TTN,missense_variant,p.Gly25168Cys,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Gly24241Cys,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Gly17744Cys,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Gly17936Cys,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Gly17869Cys,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;	A	ENST00000589042	Transcript	missense_variant	80650/109224	80425/107976	26809/35991	G/C	Ggt/Tgt	rs369941201	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			326/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265										uncertain_significance							MODERATE		SNV	5		1	1										PASS		.	.												A	3	1	42	178565707	178565707	C	A	1	0	0	0	0	1	0	0	0	17245	652	23	1		1	TTN	2	178565707	Missense_Mutation	SNP	C	C3N-00203_TP	453036	178565707	63627822	92	12040											
TTN	0	.	GRCh38	chr2	178574326	178574326	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttactgtgtgtcttgtaaTatttagaggtactggttttc	7	20	10	4	0	1	1	0	0	1	1	2	1	1	1	0	2	2	4	0	2	5	9	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.71806A>T	p.Ile23936Phe	p.I23936F	ENST00000589042	326/363	202	139	63	145	145	0	strelka-varscan	TTN,missense_variant,p.Ile23936Phe,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Ile22295Phe,ENST00000591111,;TTN,missense_variant,p.Ile22295Phe,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Ile21368Phe,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Ile14871Phe,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Ile15063Phe,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Ile14996Phe,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-171I2.2,upstream_gene_variant,,ENST00000603521,;RP11-171I2.5,upstream_gene_variant,,ENST00000604215,;	A	ENST00000589042	Transcript	missense_variant	72031/109224	71806/107976	23936/35991	I/F	Att/Ttt		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			326/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	42	178574326	178574326	T	A	1	0	0	0	0	1	0	0	0	17245	1406	49	4		4	TTN	2	178574326	Missense_Mutation	SNP	T	C3N-00203_TP	8619	178574326	63619203	93	12041											
TTN	0	.	GRCh38	chr2	178675050	178675050	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttatctaccttcaactggtAgaacttcctcttctttaggg	8	16	7	10	0	4	1	1	0	3	1	5	1	5	1	2	2	3	2	2	2	6	8	rs376836503		C3N-00203_TP	C3N-00203_NB	A	A																c.34601T>A	p.Leu11534Gln	p.L11534Q	ENST00000589042	150/363	214	185	29	165	165	0	strelka-varscan	TTN,missense_variant,p.Leu11534Gln,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Leu11160Gln,ENST00000591111,;TTN,missense_variant,p.Leu11160Gln,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Leu10233Gln,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,upstream_gene_variant,,ENST00000448510,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;	T	ENST00000589042	Transcript	missense_variant	34826/109224	34601/107976	11534/35991	L/Q	cTa/cAa	rs376836503	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			150/363		Low_complexity_(Seg):seg,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10										likely_benign							MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	42	178675050	178675050	A	T	1	0	0	0	0	1	0	0	0	17245	420	15	4		4	TTN	2	178675050	Missense_Mutation	SNP	A	C3N-00203_TP	100724	178675050	63518479	94	12042											
TTN	0	.	GRCh38	chr2	178724490	178724490	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	actccagagtgcacgtttctCctacagtcaccgtcatcggt	8	11	8	14	3	3	1	2	0	1	1	6	1	4	1	3	1	2	2	3	1	1	2	rs531296995		C3N-00203_TP	C3N-00203_NB	C	C																c.20885G>C	p.Gly6962Ala	p.G6962A	ENST00000589042	72/363	144	117	27	103	102	1	strelka-varscan	TTN,missense_variant,p.Gly6962Ala,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Gly6645Ala,ENST00000591111,;TTN,missense_variant,p.Gly6645Ala,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Gly5718Ala,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;RP11-171I2.1,non_coding_transcript_exon_variant,,ENST00000590024,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;	G	ENST00000589042	Transcript	missense_variant	21110/109224	20885/107976	6962/35991	G/A	gGa/gCa	rs531296995	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			72/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	42	178724490	178724490	C	G	1	0	0	0	0	1	0	0	0	17245	855	30	4		4	TTN	2	178724490	Missense_Mutation	SNP	C	C3N-00203_TP	49440	178724490	63469039	95	12043											
TTN	0	.	GRCh38	chr2	178733650	178733650	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacagatgtttggcttcCagcttcattttcagccaggc	8	12	8	13	0	2	1	2	0	0	1	3	1	3	1	3	2	3	3	3	2	1	5	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.15739G>T	p.Gly5247Ter	p.G5247*	ENST00000589042	53/363	135	109	26	100	100	0	strelka-varscan	TTN,stop_gained,p.Gly5247Ter,ENST00000589042,NM_001267550.2;TTN,stop_gained,p.Gly4930Ter,ENST00000591111,;TTN,stop_gained,p.Gly4930Ter,ENST00000615779,NM_001256850.1;TTN,stop_gained,p.Gly4003Ter,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000582847,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,upstream_gene_variant,,ENST00000627661,;TTN-AS1,upstream_gene_variant,,ENST00000590773,;TTN-AS1,upstream_gene_variant,,ENST00000631319,;	A	ENST00000589042	Transcript	stop_gained	15964/109224	15739/107976	5247/35991	G/*	Gga/Tga		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			53/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	42	178733650	178733650	C	A	1	0	0	0	0	0	1	0	0	17245	603	21	2		2	TTN	2	178733650	Nonsense_Mutation	SNP	C	C3N-00203_TP	9160	178733650	63459879	96	12044											
TTN	0	.	GRCh38	chr2	178740666	178740666	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattaatttgttctatggaCatggcacttgggaagatttt	11	16	10	4	0	1	1	0	0	1	1	1	4	1	3	0	3	0	2	0	3	4	7	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.12567G>C	p.Met4189Ile	p.M4189I	ENST00000589042	48/363	449	319	130	332	332	0	strelka-varscan	TTN,missense_variant,p.Met4189Ile,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Met3872Ile,ENST00000591111,;TTN,missense_variant,p.Met3872Ile,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Met3826Ile,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Met4018Ile,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Met3951Ile,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,downstream_gene_variant,,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000582847,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000627661,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000631319,;TTN-AS1,upstream_gene_variant,,ENST00000578746,;TTN-AS1,downstream_gene_variant,,ENST00000625480,;	G	ENST00000589042	Transcript	missense_variant	12792/109224	12567/107976	4189/35991	M/I	atG/atC		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			48/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	42	178740666	178740666	C	G	1	0	0	0	0	1	0	0	0	17245	478	17	4		4	TTN	2	178740666	Missense_Mutation	SNP	C	C3N-00203_TP	7016	178740666	63452863	97	12045											
FAM171B	0	.	GRCh38	chr2	186762666	186762666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgatcatggagcaccCtggagaagagtcgccaggaa	12	6	15	8	1	1	3	1	1	0	2	2	7	1	6	2	4	1	1	2	4	2	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.2324C>A	p.Pro775His	p.P775H	ENST00000304698	8/8	378	322	56	234	234	0	strelka-varscan-mutect	FAM171B,missense_variant,p.Pro775His,ENST00000304698,NM_177454.3;	A	ENST00000304698	Transcript	missense_variant	2527/5826	2324/2481	775/826	P/H	cCt/cAt		1		1	FAM171B	HGNC	HGNC:29412	protein_coding	YES	CCDS33347.1	ENSP00000304108	Q6P995		UPI0000161631	NM_177454.3	tolerated(0.59)		8/8		hmmpanther:PTHR31626:SF2,hmmpanther:PTHR31626,Pfam_domain:PF10577																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	186762666	186762666	C	A	1	0	0	0	0	1	0	0	0	5339	681	24	2		2	FAM171B	2	186762666	Missense_Mutation	SNP	C	C3N-00203_TP	8022000	186762666	55430863	98	12046											
CALCRL	0	.	GRCh38	chr2	187359211	187359211	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataaaaagagattttcttaCttgtcattgtaatataagct	16	16	5	4	0	2	1	1	0	1	1	2	2	2	1	0	0	2	2	0	0	8	9	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.842+1G>A		p.X281_splice	ENST00000409998		171	155	16	119	119	0	strelka-varscan-mutect	CALCRL,splice_donor_variant,,ENST00000409998,;CALCRL,splice_donor_variant,,ENST00000392370,NM_005795.5;CALCRL,splice_donor_variant,,ENST00000410068,NM_001271751.1;AC007319.1,intron_variant,,ENST00000412276,;AC007319.1,intron_variant,,ENST00000453517,;	T	ENST00000409998	Transcript	splice_donor_variant	-/5223	842/1386	281/461				1		-1	CALCRL	HGNC	HGNC:16709	protein_coding	YES	CCDS2293.1	ENSP00000386972	Q16602		UPI00000503EF					12/15																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	42	187359211	187359211	C	T	1	0	0	0	0	0	0	1	0	2270	579	20	3		3	CALCRL	2	187359211	Splice_Site	SNP	C	C3N-00203_TP	596545	187359211	54834318	99	12047											
NBEAL1	0	.	GRCh38	chr2	203122306	203122306	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactaattgtttgcatggaaGattaacaggaaacaaagtag	17	11	9	4	0	0	1	0	0	0	1	0	3	0	3	0	2	4	3	0	2	7	6	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.2558G>C	p.Arg853Thr	p.R853T	ENST00000449802	18/55	134	110	24	159	159	0	strelka-varscan-mutect	NBEAL1,missense_variant,p.Arg853Thr,ENST00000449802,NM_001114132.1;	C	ENST00000449802	Transcript	missense_variant	2891/10938	2558/8085	853/2694	R/T	aGa/aCa		1		1	NBEAL1	HGNC	HGNC:20681	protein_coding	YES	CCDS46495.1	ENSP00000399903	Q6ZS30		UPI000194EC27	NM_001114132.1	tolerated(0.11)		18/55		hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	42	203122306	203122306	G	C	1	0	0	0	0	1	0	0	0	10199	942	33	4		4	NBEAL1	2	203122306	Missense_Mutation	SNP	G	C3N-00203_TP	15763095	203122306	39071223	100	12048											
PIKFYVE	0	.	GRCh38	chr2	208273716	208273716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttaatgaggaactccagcGgcgctcttcagcattaggta	10	10	11	10	2	2	1	1	1	1	0	3	2	3	2	1	3	3	4	1	3	4	4	rs758117456		C3N-00203_TP	C3N-00203_NB	G	G																c.305G>T	p.Arg102Leu	p.R102L	ENST00000264380	3/42	539	424	115	401	401	0	strelka-varscan-mutect	PIKFYVE,missense_variant,p.Arg102Leu,ENST00000264380,NM_015040.3;PIKFYVE,missense_variant,p.Arg102Leu,ENST00000452564,;PIKFYVE,missense_variant,p.Arg102Leu,ENST00000392202,NM_152671.3;PIKFYVE,missense_variant,p.Arg102Leu,ENST00000407449,NM_001178000.1;PIKFYVE,missense_variant,p.Arg102Leu,ENST00000308862,;PIKFYVE,missense_variant,p.Arg102Leu,ENST00000422495,;PIKFYVE,missense_variant,p.Arg102Leu,ENST00000443896,;MYL6BP1,upstream_gene_variant,,ENST00000429485,;	T	ENST00000264380	Transcript	missense_variant	463/9901	305/6297	102/2098	R/L	cGg/cTg	rs758117456	1		1	PIKFYVE	HGNC	HGNC:23785	protein_coding	YES	CCDS2382.1	ENSP00000264380	Q9Y2I7		UPI0000366FD6	NM_015040.3	deleterious(0.04)		3/42																			MODERATE	1	SNV	1			1										PASS		rs758117456	.												T	3	4	42	208273716	208273716	G	T	1	0	0	0	0	1	0	0	0	12019	1116	39	1		1	PIKFYVE	2	208273716	Missense_Mutation	SNP	G	C3N-00203_TP	5151410	208273716	33919813	101	12049											
CXCR1	0	.	GRCh38	chr2	218164703	218164703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggcggaaaaggaagaagGgcagggacagattcatagac	15	4	15	7	1	1	3	1	0	0	3	1	6	1	6	1	5	0	1	1	5	5	2	rs777099652		C3N-00203_TP	C3N-00203_NB	G	G																c.509C>A	p.Pro170His	p.P170H	ENST00000295683	2/2	570	424	146	449	448	1	strelka-varscan-mutect	CXCR1,missense_variant,p.Pro170His,ENST00000295683,NM_000634.2;	T	ENST00000295683	Transcript	missense_variant	630/2488	509/1053	170/350	P/H	cCc/cAc	rs777099652	1		-1	CXCR1	HGNC	HGNC:6026	protein_coding	YES	CCDS2409.1	ENSP00000295683	P25024		UPI0000050457	NM_000634.2	deleterious(0)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF689,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs777099652	.												T	3	4	42	218164703	218164703	G	T	1	0	0	0	0	1	0	0	0	3901	1232	43	2		2	CXCR1	2	218164703	Missense_Mutation	SNP	G	C3N-00203_TP	9890987	218164703	24028826	102	12050											
SPHKAP	0	.	GRCh38	chr2	228019227	228019227	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggaaggttccttgagtcCttggggtgcttgagtttgca	6	14	15	6	0	0	2	0	2	0	0	2	4	2	3	2	4	2	4	2	4	1	5	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1627G>T	p.Gly543Ter	p.G543*	ENST00000392056	7/12	265	248	17	243	243	0	strelka-varscan-mutect	SPHKAP,stop_gained,p.Gly543Ter,ENST00000392056,NM_001142644.1;SPHKAP,stop_gained,p.Gly543Ter,ENST00000344657,NM_030623.3;	A	ENST00000392056	Transcript	stop_gained	1674/6917	1627/5103	543/1700	G/*	Gga/Tga		1		-1	SPHKAP	HGNC	HGNC:30619	protein_coding	YES	CCDS46537.1	ENSP00000375909	Q2M3C7		UPI0000411D7E	NM_001142644.1			7/12		hmmpanther:PTHR10226:SF7,hmmpanther:PTHR10226																	HIGH	1	SNV	1			1										PASS		rs1416078052	.												A	4	1	42	228019227	228019227	C	A	1	0	0	0	0	0	1	0	0	15399	690	24	2		2	SPHKAP	2	228019227	Nonsense_Mutation	SNP	C	C3N-00203_TP	9854524	228019227	14174302	103	12051											
TRIP12	0	.	GRCh38	chr2	229789616	229789616	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaacattactcacatcatAcaagtaataccagtatcgac	16	9	5	11	1	2	0	2	0	0	0	3	1	2	0	1	1	4	3	1	1	7	5	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.4609T>C	p.Tyr1537His	p.Y1537H	ENST00000389044	31/42	124	95	29	76	76	0	strelka-varscan-mutect	TRIP12,missense_variant,p.Tyr1489His,ENST00000283943,NM_001284215.1,NM_004238.2;TRIP12,missense_variant,p.Tyr1537His,ENST00000389044,NM_001284214.1;TRIP12,missense_variant,p.Tyr1219His,ENST00000389045,NM_001284216.1;TRIP12,downstream_gene_variant,,ENST00000495322,;TRIP12,downstream_gene_variant,,ENST00000470302,;	G	ENST00000389044	Transcript	missense_variant	4778/6405	4609/6123	1537/2040	Y/H	Tat/Cat		1		-1	TRIP12	HGNC	HGNC:12306	protein_coding	YES	CCDS63146.1	ENSP00000373696	Q14669		UPI0000DA6BE7	NM_001284214.1	deleterious(0.04)		31/42		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	42	229789616	229789616	A	G	1	0	0	0	0	1	0	0	0	17053	405	14	5		5	TRIP12	2	229789616	Missense_Mutation	SNP	A	C3N-00203_TP	1770389	229789616	12403913	104	12052											
KLHL30	0	.	GRCh38	chr2	238141483	238141483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagagcccctgatccaGgagtcagaggcatgccgggc	8	5	14	14	1	2	3	2	1	0	2	3	4	3	4	5	3	2	1	5	3	0	0	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.729G>A	p.=	p.Q243Q	ENST00000409223	2/8	50	37	13	31	31	0	strelka-varscan-mutect	KLHL30,synonymous_variant,p.=,ENST00000409223,NM_198582.3;	A	ENST00000409223	Transcript	synonymous_variant	836/3726	729/1737	243/578	Q	caG/caA		1		1	KLHL30	HGNC	HGNC:24770	protein_coding	YES	CCDS46555.2	ENSP00000386389	Q0D2K2		UPI00001D7DA5	NM_198582.3			2/8		PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF9																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	42	238141483	238141483	G	A	1	0	0	0	0	0	0	0	1	8249	991	35	3		3	KLHL30	2	238141483	Silent	SNP	G	C3N-00203_TP	8351867	238141483	4052046	105	12053											
C3orf20	0	.	GRCh38	chr3	14757541	14757541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagcgcttcctgttggcgcCccgagaccccagccaagtgc	6	6	13	16	3	0	1	0	0	0	1	1	3	1	2	6	2	3	2	6	2	1	2	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.2111C>A	p.Pro704His	p.P704H	ENST00000253697	13/17	518	423	95	331	330	1	strelka-varscan-mutect	C3orf20,missense_variant,p.Pro704His,ENST00000253697,NM_032137.4;C3orf20,missense_variant,p.Pro582His,ENST00000435614,NM_001184958.1;C3orf20,missense_variant,p.Pro582His,ENST00000412910,NM_001184957.1;	A	ENST00000253697	Transcript	missense_variant	2563/3326	2111/2715	704/904	P/H	cCc/cAc		1		1	C3orf20	HGNC	HGNC:25320	protein_coding	YES	CCDS33706.1	ENSP00000253697	Q8ND61		UPI000013CDE9	NM_032137.4	deleterious(0)		13/17		hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	14757541	14757541	C	A	1	0	0	0	0	1	0	0	0	2061	623	22	2		2	C3orf20	3	14757541	Missense_Mutation	SNP	C	C3N-00203_TP		14757541	183538018	106	12054											
SLC4A7	0	.	GRCh38	chr3	27394516	27394516	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacggcaataaagaaattttAcctttaggactgaagtcatg	15	11	8	7	1	1	2	1	1	0	1	1	3	1	3	1	2	1	1	1	2	7	5	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.3090+2T>A		p.X1030_splice	ENST00000295736		138	108	30	124	124	0	strelka-varscan-mutect	SLC4A7,splice_donor_variant,,ENST00000425128,NM_001321105.1,NM_001321106.1;SLC4A7,splice_donor_variant,,ENST00000295736,NM_003615.4;SLC4A7,splice_donor_variant,,ENST00000428386,NM_001321107.1,NM_001258380.1;SLC4A7,splice_donor_variant,,ENST00000419036,;SLC4A7,splice_donor_variant,,ENST00000454389,;SLC4A7,splice_donor_variant,,ENST00000440156,;SLC4A7,splice_donor_variant,,ENST00000445684,;SLC4A7,splice_donor_variant,,ENST00000446700,;SLC4A7,splice_donor_variant,,ENST00000455077,NM_001258379.1;SLC4A7,splice_donor_variant,,ENST00000437179,;SLC4A7,splice_donor_variant,,ENST00000428179,;SLC4A7,splice_donor_variant,,ENST00000438530,;SLC4A7,splice_donor_variant,,ENST00000457377,;SLC4A7,splice_donor_variant,,ENST00000437266,;SLC4A7,downstream_gene_variant,,ENST00000475120,;SLC4A7,upstream_gene_variant,,ENST00000465487,;	T	ENST00000295736	Transcript	splice_donor_variant	-/7757	3090/3645	1030/1214				1		-1	SLC4A7	HGNC	HGNC:11033	protein_coding	YES	CCDS33721.1	ENSP00000295736	Q9Y6M7		UPI0000DBEEB7	NM_003615.4				20/24																		HIGH	1	SNV	1			1										PASS		rs1352606094	.												T	5	4	42	27394516	27394516	A	T	1	0	0	0	0	0	0	1	0	14935	405	14	4		4	SLC4A7	3	27394516	Splice_Site	SNP	A	C3N-00203_TP	12636975	27394516	170901043	107	12055											
SCN11A	0	.	GRCh38	chr3	38950197	38950197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacttcctggaggcctttaGgtcaagctgaggccgaggct	8	9	13	11	1	1	1	1	1	0	0	2	3	2	2	3	5	2	2	3	5	3	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.166C>T	p.=	p.L56L	ENST00000302328	1/26	428	383	45	308	308	0	strelka-varscan-mutect	SCN11A,synonymous_variant,p.=,ENST00000302328,NM_014139.2,NM_001287223.1;SCN11A,synonymous_variant,p.=,ENST00000444237,;SCN11A,synonymous_variant,p.=,ENST00000456224,;	A	ENST00000302328	Transcript	synonymous_variant	365/6500	166/5376	56/1791	L	Cta/Tta		1		-1	SCN11A	HGNC	HGNC:10583	protein_coding	YES	CCDS33737.1	ENSP00000307599	Q9UI33		UPI000006CCD7	NM_014139.2,NM_001287223.1			1/26		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF210																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	42	38950197	38950197	G	A	1	0	0	0	0	0	0	0	1	14182	991	35	3		3	SCN11A	3	38950197	Silent	SNP	G	C3N-00203_TP	11555681	38950197	159345362	108	12056											
XIRP1	0	.	GRCh38	chr3	39188015	39188015	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacactggggaccctatgccCtgggcctgcccagcagaatc	8	7	11	15	0	0	1	0	0	0	1	1	2	0	2	4	3	4	1	4	3	3	2	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1431G>A	p.=	p.Q477Q	ENST00000340369	2/2	290	192	98	206	206	0	strelka-varscan-mutect	XIRP1,synonymous_variant,p.=,ENST00000340369,NM_194293.2;XIRP1,synonymous_variant,p.=,ENST00000396251,NM_001198621.2;XIRP1,intron_variant,,ENST00000421646,;	T	ENST00000340369	Transcript	synonymous_variant	1660/6460	1431/5532	477/1843	Q	caG/caA		1		-1	XIRP1	HGNC	HGNC:14301	protein_coding	YES	CCDS2683.1	ENSP00000343140	Q702N8		UPI00001BFB06	NM_194293.2			2/2		hmmpanther:PTHR22591																	LOW	1	SNV	1			1										PASS		rs1219306727	.												T	2	4	42	39188015	39188015	C	T	1	0	0	0	0	0	0	0	1	17988	680	24	3		3	XIRP1	3	39188015	Silent	SNP	C	C3N-00203_TP	237818	39188015	159107544	109	12057											
TMEM158	0	.	GRCh38	chr3	45225830	45225830	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccgccgccgccgccgcCtcctccgggcccgggcgctc	0	3	15	23	9	0	0	0	0	0	0	3	0	2	0	9	3	0	1	9	3	0	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.198G>A	p.=	p.E66E	ENST00000503771	1/1	49	44	5	54	54	0	strelka-varscan	TMEM158,synonymous_variant,p.=,ENST00000503771,NM_015444.2;	T	ENST00000503771	Transcript	synonymous_variant	449/1813	198/903	66/300	E	gaG/gaA		1		-1	TMEM158	HGNC	HGNC:30293	protein_coding	YES	CCDS54573.1	ENSP00000422431	Q8WZ71		UPI0000E5DD5E	NM_015444.2			1/1		hmmpanther:PTHR38324,hmmpanther:PTHR38324:SF1,Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		.	.												T	2	4	42	45225830	45225830	C	T	1	0	0	0	0	0	0	0	1	16517	680	24	3		3	TMEM158	3	45225830	Silent	SNP	C	C3N-00203_TP	6037815	45225830	153069729	110	12058											
SLC26A6	0	.	GRCh38	chr3	48632053	48632053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagccccacctgtggggCggccaggggcagtcaggaga	7	3	17	14	1	1	1	1	0	0	1	1	2	1	1	5	6	1	1	5	6	0	0	rs768584325		C3N-00203_TP	C3N-00203_NB	C	C																c.473G>T	p.Arg158Leu	p.R158L	ENST00000455886	5/20	147	102	45	88	88	0	strelka-varscan-mutect	SLC26A6,missense_variant,p.Arg158Leu,ENST00000455886,NM_001281732.1;SLC26A6,missense_variant,p.Arg158Leu,ENST00000426599,;SLC26A6,intron_variant,,ENST00000358747,NM_001040454.1;SLC26A6,intron_variant,,ENST00000420764,NM_134263.2;SLC26A6,intron_variant,,ENST00000395550,NM_022911.2;SLC26A6,intron_variant,,ENST00000383733,NM_134426.2;SLC26A6,intron_variant,,ENST00000337000,NM_001281733.1;SLC26A6,intron_variant,,ENST00000421649,;SLC26A6,intron_variant,,ENST00000431739,;CELSR3,downstream_gene_variant,,ENST00000164024,NM_001407.2;SLC26A6,downstream_gene_variant,,ENST00000611478,;SLC26A6,intron_variant,,ENST00000482282,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000489483,;SLC26A6,intron_variant,,ENST00000480524,;SLC26A6,intron_variant,,ENST00000307364,;SLC26A6,intron_variant,,ENST00000444531,;SLC26A6,intron_variant,,ENST00000414944,;SLC26A6,intron_variant,,ENST00000431213,;CELSR3,downstream_gene_variant,,ENST00000498057,;CELSR3,downstream_gene_variant,,ENST00000461362,;SLC26A6,upstream_gene_variant,,ENST00000496469,;SLC26A6,upstream_gene_variant,,ENST00000462009,;SLC26A6,upstream_gene_variant,,ENST00000466257,;SLC26A6,upstream_gene_variant,,ENST00000485361,;SLC26A6,upstream_gene_variant,,ENST00000469693,;SLC26A6,upstream_gene_variant,,ENST00000494717,;	A	ENST00000455886	Transcript	missense_variant	521/2460	473/2172	158/723	R/L	cGc/cTc	rs768584325	1		-1	SLC26A6	HGNC	HGNC:14472	protein_coding		CCDS63628.1	ENSP00000401066	Q9BXS9		UPI00017A794B	NM_001281732.1	tolerated(0.13)		5/20		Low_complexity_(Seg):seg,hmmpanther:PTHR11814:SF113,hmmpanther:PTHR11814																	MODERATE		SNV	2			1										PASS		rs768584325	.												A	3	1	42	48632053	48632053	C	A	1	0	0	0	0	1	0	0	0	14791	768	27	1		1	SLC26A6	3	48632053	Missense_Mutation	SNP	C	C3N-00203_TP	3406223	48632053	149663506	111	12059											
LAMB2	0	.	GRCh38	chr3	49123490	49123490	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcaagatgctggtcgagCtgccgcagtgtgagattaag	11	9	14	7	2	1	2	1	1	0	2	2	4	1	2	1	1	3	3	1	1	3	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.3939G>T	p.Gln1313His	p.Q1313H	ENST00000418109	26/33	597	451	146	475	475	0	strelka-varscan-mutect	LAMB2,missense_variant,p.Gln1313His,ENST00000418109,NM_002292.3;LAMB2,missense_variant,p.Gln1313His,ENST00000305544,;USP19,upstream_gene_variant,,ENST00000453664,NM_001199162.1;USP19,upstream_gene_variant,,ENST00000417901,NM_001199161.1;USP19,upstream_gene_variant,,ENST00000434032,NM_001199160.1;USP19,upstream_gene_variant,,ENST00000398892,;USP19,upstream_gene_variant,,ENST00000398888,NM_006677.2;USP19,upstream_gene_variant,,ENST00000398898,;USP19,upstream_gene_variant,,ENST00000306026,;USP19,upstream_gene_variant,,ENST00000488993,;USP19,upstream_gene_variant,,ENST00000491859,;LAMB2,downstream_gene_variant,,ENST00000464891,;USP19,upstream_gene_variant,,ENST00000465902,;LAMB2,downstream_gene_variant,,ENST00000486298,;LAMB2,non_coding_transcript_exon_variant,,ENST00000469665,;LAMB2,non_coding_transcript_exon_variant,,ENST00000477225,;LAMB2,upstream_gene_variant,,ENST00000498377,;LAMB2,upstream_gene_variant,,ENST00000467506,;LAMB2,downstream_gene_variant,,ENST00000493571,;LAMB2,downstream_gene_variant,,ENST00000542580,;LAMB2,downstream_gene_variant,,ENST00000538659,;LAMB2,downstream_gene_variant,,ENST00000480640,;LAMB2,downstream_gene_variant,,ENST00000477701,;LAMB2,downstream_gene_variant,,ENST00000483057,;LAMB2,downstream_gene_variant,,ENST00000462930,;LAMB2,upstream_gene_variant,,ENST00000484713,;LAMB2,downstream_gene_variant,,ENST00000488638,;	A	ENST00000418109	Transcript	missense_variant	4104/5674	3939/5397	1313/1798	Q/H	caG/caT		1		-1	LAMB2	HGNC	HGNC:6487	protein_coding	YES	CCDS2789.1	ENSP00000388325	P55268	A0A024R319	UPI000013EA62	NM_002292.3	tolerated(0.14)		26/33		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF36																	MODERATE	1	SNV	1			1										PASS		rs1164022460	.												A	3	1	42	49123490	49123490	C	A	1	0	0	0	0	1	0	0	0	8515	796	28	2		2	LAMB2	3	49123490	Missense_Mutation	SNP	C	C3N-00203_TP	491437	49123490	149172069	112	12060											
APEH	0	.	GRCh38	chr3	49675298	49675298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggcaacagtgtggaGacccggggggagtaagtttg	9	7	17	8	1	0	1	0	0	0	1	0	3	0	2	2	5	2	4	2	5	2	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.261G>T	p.Glu87Asp	p.E87D	ENST00000296456	3/22	268	208	60	175	175	0	strelka-varscan-mutect	APEH,missense_variant,p.Glu87Asp,ENST00000296456,NM_001640.3;APEH,missense_variant,p.Glu87Asp,ENST00000438011,;APEH,missense_variant,p.Glu84Asp,ENST00000457042,;APEH,intron_variant,,ENST00000442186,;APEH,intron_variant,,ENST00000449966,;BSN,downstream_gene_variant,,ENST00000296452,NM_003458.3;APEH,non_coding_transcript_exon_variant,,ENST00000483715,;APEH,non_coding_transcript_exon_variant,,ENST00000462439,;APEH,non_coding_transcript_exon_variant,,ENST00000463616,;APEH,intron_variant,,ENST00000463995,;APEH,intron_variant,,ENST00000447436,;APEH,intron_variant,,ENST00000446089,;APEH,intron_variant,,ENST00000491799,;APEH,upstream_gene_variant,,ENST00000482301,;APEH,upstream_gene_variant,,ENST00000469362,;APEH,upstream_gene_variant,,ENST00000447541,;	T	ENST00000296456	Transcript	missense_variant	661/3220	261/2199	87/732	E/D	gaG/gaT		1		1	APEH	HGNC	HGNC:586	protein_coding	YES	CCDS2801.1	ENSP00000296456	P13798	A0A024R2U9	UPI00000735A1	NM_001640.3	tolerated(0.14)		3/22		hmmpanther:PTHR11731:SF7,hmmpanther:PTHR11731,Superfamily_domains:SSF50993																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	49675298	49675298	G	T	1	0	0	0	0	1	0	0	0	888	933	33	2		2	APEH	3	49675298	Missense_Mutation	SNP	G	C3N-00203_TP	551808	49675298	148620261	113	12061											
CADPS	0	.	GRCh38	chr3	62592749	62592749	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcaccctgggtgccccagCtgcagacagaatcaaagagg	12	5	12	12	0	2	3	2	0	0	3	2	3	2	3	3	2	3	2	3	2	2	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1326-1G>C		p.X442_splice	ENST00000383710		122	88	34	82	82	0	strelka-varscan-mutect	CADPS,splice_acceptor_variant,,ENST00000383710,NM_003716.3;CADPS,splice_acceptor_variant,,ENST00000612439,;CADPS,splice_acceptor_variant,,ENST00000357948,NM_183393.2;CADPS,splice_acceptor_variant,,ENST00000283269,NM_183394.2;	G	ENST00000383710	Transcript	splice_acceptor_variant	-/5471	1326/4062	442/1353				1		-1	CADPS	HGNC	HGNC:1426	protein_coding	YES	CCDS46858.1	ENSP00000373215	Q9ULU8		UPI00001C036A	NM_003716.3				6/29																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	42	62592749	62592749	C	G	1	0	0	0	0	0	0	1	0	2260	811	28	4		4	CADPS	3	62592749	Splice_Site	SNP	C	C3N-00203_TP	12917451	62592749	135702810	114	12062											
FOXP1	0	.	GRCh38	chr3	70976969	70976969	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccgcgttgcgtcggaagTaagcaaacattcgtgtgaac	10	9	13	9	5	0	1	0	1	0	0	2	2	0	2	1	2	4	3	1	2	4	3	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.1502A>G	p.Tyr501Cys	p.Y501C	ENST00000615603	17/21	441	374	67	260	260	0	strelka-varscan-mutect	FOXP1,missense_variant,p.Tyr501Cys,ENST00000615603,NM_001244810.1;FOXP1,missense_variant,p.Tyr501Cys,ENST00000318789,NM_032682.5;FOXP1,missense_variant,p.Tyr401Cys,ENST00000614176,NM_001244813.1;FOXP1,missense_variant,p.Tyr501Cys,ENST00000475937,NM_001244816.1;FOXP1,missense_variant,p.Tyr500Cys,ENST00000493089,NM_001244808.1;FOXP1,missense_variant,p.Tyr501Cys,ENST00000498215,NM_001244814.1;FOXP1,missense_variant,p.Tyr503Cys,ENST00000491238,NM_001244815.1;FOXP1,missense_variant,p.Tyr425Cys,ENST00000484350,NM_001244812.1;FOXP1,missense_variant,p.Tyr501Cys,ENST00000468577,;FOXP1,missense_variant,p.Tyr397Cys,ENST00000497355,;FOXP1,non_coding_transcript_exon_variant,,ENST00000614183,;FOXP1,missense_variant,p.Tyr501Cys,ENST00000327590,;	C	ENST00000615603	Transcript	missense_variant	2028/7140	1502/2082	501/693	Y/C	tAc/tGc		1		-1	FOXP1	HGNC	HGNC:3823	protein_coding	YES	CCDS74964.1	ENSP00000484803		A0A087X299	UPI00022AEF64	NM_001244810.1	deleterious(0)		17/21		PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF176,hmmpanther:PTHR11829,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	42	70976969	70976969	T	C	1	0	0	0	0	1	0	0	0	5891	1638	57	5		5	FOXP1	3	70976969	Missense_Mutation	SNP	T	C3N-00203_TP	8384220	70976969	127318590	115	12063											
SHQ1	0	.	GRCh38	chr3	72815405	72815405	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattccatgcagattcaaccTttatttgttttggagaaaag	12	16	7	6	0	1	2	1	0	0	2	2	3	2	2	2	1	2	2	2	1	5	8	rs745678979		C3N-00203_TP	C3N-00203_NB	T	T																c.883-2A>T		p.X295_splice	ENST00000325599		154	136	18	178	178	0	strelka-varscan-mutect	SHQ1,splice_acceptor_variant,,ENST00000325599,NM_018130.2;SHQ1,splice_acceptor_variant,,ENST00000463369,;SHQ1,splice_acceptor_variant,,ENST00000475558,;SHQ1,splice_acceptor_variant,,ENST00000468347,;SHQ1,splice_acceptor_variant,,ENST00000444040,;	A	ENST00000325599	Transcript	splice_acceptor_variant	-/2879	883/1734	295/577			rs745678979	1		-1	SHQ1	HGNC	HGNC:25543	protein_coding	YES	CCDS33788.1	ENSP00000315182	Q6PI26		UPI00001416C5	NM_018130.2				7/10																		HIGH	1	SNV	1			1										PASS		rs745678979	.												A	5	1	42	72815405	72815405	T	A	1	0	0	0	0	0	0	1	0	14555	1623	56	4		4	SHQ1	3	72815405	Splice_Site	SNP	T	C3N-00203_TP	1838436	72815405	125480154	116	12064											
CADM2	0	.	GRCh38	chr3	85883443	85883443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcatatctcaccgttctgGgtaagtgcaagggactaaca	12	9	11	9	1	2	0	1	0	2	0	3	1	2	1	1	3	2	4	1	3	4	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.370G>T	p.Gly124Cys	p.G124C	ENST00000405615	3/10	84	66	18	78	78	0	strelka-varscan-mutect	CADM2,missense_variant,p.Gly131Cys,ENST00000383699,NM_001256504.1,NM_001256505.1,NM_001167675.1;CADM2,missense_variant,p.Gly122Cys,ENST00000407528,NM_001167674.1;CADM2,missense_variant,p.Gly124Cys,ENST00000405615,NM_153184.3;	T	ENST00000405615	Transcript	missense_variant,splice_region_variant	370/1314	370/1314	124/437	G/C	Ggt/Tgt		1		1	CADM2	HGNC	HGNC:29849	protein_coding	YES	CCDS33792.1	ENSP00000384193	Q8N3J6		UPI000013F077	NM_153184.3	deleterious(0.01)		3/10		hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	85883443	85883443	G	T	1	0	0	0	0	1	0	0	0	2257	1246	43	2		2	CADM2	3	85883443	Missense_Mutation	SNP	G	C3N-00203_TP	13068038	85883443	112412116	117	12065											
EPHA6	0	.	GRCh38	chr3	97532453	97532453	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaggtggccacatggatCggcaaagaagagattttcta	14	9	12	6	1	1	3	0	1	1	2	2	5	1	4	1	4	0	1	1	4	4	3	rs139774071		C3N-00203_TP	C3N-00203_NB	C	C																c.2296C>A	p.=	p.R766R	ENST00000389672	11/18	281	221	60	185	185	0	strelka-varscan-mutect	EPHA6,synonymous_variant,p.=,ENST00000389672,NM_001080448.2;EPHA6,synonymous_variant,p.=,ENST00000514100,NM_001278300.1;EPHA6,synonymous_variant,p.=,ENST00000502694,NM_173655.3;EPHA6,synonymous_variant,p.=,ENST00000477384,;EPHA6,synonymous_variant,p.=,ENST00000503760,;EPHA6,synonymous_variant,p.=,ENST00000508345,;	A	ENST00000389672	Transcript	synonymous_variant	2334/3971	2296/3393	766/1130	R	Cgg/Agg	rs139774071,COSM95852	1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2			11/18		Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,SMART_domains:SM00219,Superfamily_domains:SSF56112											0,1						LOW	1	SNV	2		0,1	1										PASS		rs139774071	.												A	2	1	42	97532453	97532453	C	A	1	0	0	0	0	0	0	0	1	5018	875	31	1		1	EPHA6	3	97532453	Silent	SNP	C	C3N-00203_TP	11649010	97532453	100763106	118	12066											
SENP7	0	.	GRCh38	chr3	101417596	101417596	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatactgaacaacataccttTcagataaattaaggctttgg	16	12	6	7	0	1	2	1	1	0	1	1	2	1	2	1	2	4	1	1	2	8	6	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.479A>T	p.Glu160Val	p.E160V	ENST00000394095	5/24	217	173	44	164	164	0	varscan-mutect	SENP7,missense_variant,p.Glu160Val,ENST00000394095,NM_020654.4;SENP7,missense_variant,p.Glu160Val,ENST00000394094,NM_001077203.2;SENP7,missense_variant,p.Glu127Val,ENST00000348610,NM_001282802.1;SENP7,intron_variant,,ENST00000314261,NM_001282801.1;SENP7,intron_variant,,ENST00000394091,NM_001282803.1;RP11-144C15.1,downstream_gene_variant,,ENST00000468519,;	A	ENST00000394095	Transcript	missense_variant	533/4945	479/3153	160/1050	E/V	gAa/gTa		1		-1	SENP7	HGNC	HGNC:30402	protein_coding	YES	CCDS2941.2	ENSP00000377655	Q9BQF6		UPI0000E56ED1	NM_020654.4	deleterious(0)		5/24																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	101417596	101417596	T	A	1	0	0	0	0	1	0	0	0	14327	1797	62	4		4	SENP7	3	101417596	Missense_Mutation	SNP	T	C3N-00203_TP	3885143	101417596	96877963	119	12067											
C3orf30	0	.	GRCh38	chr3	119147428	119147428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagttgaaatggaaactcaGaatgcaaccactatcccacc	15	8	6	12	0	2	2	2	1	0	1	3	3	3	3	3	1	3	2	3	1	5	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1239G>T	p.Gln413His	p.Q413H	ENST00000295622	1/3	304	239	65	276	275	1	strelka-varscan-mutect	C3orf30,missense_variant,p.Gln413His,ENST00000295622,NM_152539.2;C3orf30,missense_variant,p.Gln377His,ENST00000460150,;C3orf30,missense_variant,p.Gln206His,ENST00000473121,;C3orf30,missense_variant,p.Gln148His,ENST00000492792,;RP11-484M3.5,missense_variant,p.Gln4His,ENST00000490594,;IGSF11,upstream_gene_variant,,ENST00000425327,NM_152538.2;IGSF11,upstream_gene_variant,,ENST00000441144,;IGSF11,upstream_gene_variant,,ENST00000494802,;C3orf30,missense_variant,p.Gln413His,ENST00000494105,;	T	ENST00000295622	Transcript	missense_variant	1279/1814	1239/1611	413/536	Q/H	caG/caT		1		1	C3orf30	HGNC	HGNC:26553	protein_coding	YES	CCDS2984.1	ENSP00000295622	Q96M34		UPI000013E280	NM_152539.2	deleterious(0.01)		1/3		hmmpanther:PTHR21847,hmmpanther:PTHR21847:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	119147428	119147428	G	T	1	0	0	0	0	1	0	0	0	2063	933	33	2		2	C3orf30	3	119147428	Missense_Mutation	SNP	G	C3N-00203_TP	17729832	119147428	79148131	120	12068											
DIRC2	0	.	GRCh38	chr3	122872500	122872500	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctttttgtggaaactgtCtacccagttccagaaggaat	11	12	10	8	0	1	1	0	0	1	1	2	4	2	3	2	2	3	2	2	2	4	4			C3N-00203_TP	C3N-00203_NB	C	C																c.1224C>A	p.=	p.V408V	ENST00000261038	8/9	284	217	67	300	300	0	strelka-varscan-mutect	DIRC2,synonymous_variant,p.=,ENST00000261038,NM_032839.2;DIRC2,3_prime_UTR_variant,,ENST00000477647,;	A	ENST00000261038	Transcript	synonymous_variant	1622/3596	1224/1437	408/478	V	gtC/gtA	COSM1536210	1		1	DIRC2	HGNC	HGNC:16628	protein_coding	YES	CCDS3018.1	ENSP00000261038	Q96SL1		UPI0000073CC7	NM_032839.2			8/9		Gene3D:1.20.1250.20,hmmpanther:PTHR10924,hmmpanther:PTHR10924:SF0,Superfamily_domains:SSF103473											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	42	122872500	122872500	C	A	1	0	0	0	0	0	0	0	1	4339	900	32	2		2	DIRC2	3	122872500	Silent	SNP	C	C3N-00203_TP	3725072	122872500	75423059	121	12069											
ZNF148	0	.	GRCh38	chr3	125234251	125234251	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaggtttttctccactaTgagttctcttatgcctttcc	6	18	7	10	0	2	1	0	1	2	0	5	1	3	1	3	2	1	3	3	2	3	7	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.746A>T	p.His249Leu	p.H249L	ENST00000360647	8/9	207	179	28	235	235	0	strelka-varscan-mutect	ZNF148,missense_variant,p.His249Leu,ENST00000360647,NM_021964.2;ZNF148,missense_variant,p.His249Leu,ENST00000485866,;ZNF148,missense_variant,p.His249Leu,ENST00000484491,;ZNF148,missense_variant,p.His249Leu,ENST00000492394,;ZNF148,intron_variant,,ENST00000468369,;ZNF148,non_coding_transcript_exon_variant,,ENST00000497929,;ZNF148,upstream_gene_variant,,ENST00000496732,;	A	ENST00000360647	Transcript	missense_variant	1232/9651	746/2385	249/794	H/L	cAt/cTt		1		-1	ZNF148	HGNC	HGNC:12933	protein_coding	YES	CCDS3031.1	ENSP00000353863	Q9UQR1		UPI000013C2FF	NM_021964.2	deleterious(0)		8/9		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF65,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	125234251	125234251	T	A	1	0	0	0	0	1	0	0	0	18315	1464	51	4		4	ZNF148	3	125234251	Missense_Mutation	SNP	T	C3N-00203_TP	2361751	125234251	73061308	122	12070											
PODXL2	0	.	GRCh38	chr3	127660476	127660476	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcccttgcccaagatgAatctggttgagcctccctgg	6	11	9	15	0	2	3	0	2	2	1	4	3	3	3	5	2	2	1	5	2	2	2	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.448A>T	p.Asn150Tyr	p.N150Y	ENST00000342480	3/8	275	176	99	198	198	0	strelka-varscan-mutect	PODXL2,missense_variant,p.Asn150Tyr,ENST00000342480,NM_015720.3;	T	ENST00000342480	Transcript	missense_variant	487/2186	448/1818	150/605	N/Y	Aat/Tat		1		1	PODXL2	HGNC	HGNC:17936	protein_coding	YES	CCDS3044.1	ENSP00000345359	Q9NZ53		UPI000006FC4B	NM_015720.3	deleterious(0.03)		3/8		hmmpanther:PTHR15594																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	127660476	127660476	A	T	1	0	0	0	0	1	0	0	0	12290	246	9	4		4	PODXL2	3	127660476	Missense_Mutation	SNP	A	C3N-00203_TP	2426225	127660476	70635083	123	12071											
HMCES	0	.	GRCh38	chr3	129290709	129290709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagggaagacgctgtgtcGttttagcagatggattctat	11	12	13	5	2	1	2	0	0	1	2	2	5	1	4	0	2	1	3	0	2	4	4	rs756205892		C3N-00203_TP	C3N-00203_NB	G	G																c.358G>T	p.Val120Phe	p.V120F	ENST00000383463	4/7	298	188	110	182	182	0	strelka-varscan-mutect	HMCES,missense_variant,p.Val120Phe,ENST00000383463,NM_020187.2;HMCES,missense_variant,p.Val120Phe,ENST00000502878,;HMCES,missense_variant,p.Val120Phe,ENST00000389735,NM_001006109.1;HMCES,missense_variant,p.Val72Phe,ENST00000509042,;HMCES,missense_variant,p.Val120Phe,ENST00000509551,;HMCES,intron_variant,,ENST00000417226,;HMCES,intron_variant,,ENST00000511665,;HMCES,intron_variant,,ENST00000510314,;	T	ENST00000383463	Transcript	missense_variant	447/2515	358/1065	120/354	V/F	Gtt/Ttt	rs756205892	1		1	HMCES	HGNC	HGNC:24446	protein_coding	YES	CCDS33852.1	ENSP00000372955	Q96FZ2		UPI000006FF4D	NM_020187.2	deleterious(0)		4/7		Gene3D:2icuA00,Pfam_domain:PF02586,hmmpanther:PTHR13604,hmmpanther:PTHR13604:SF0,Superfamily_domains:SSF143081																	MODERATE	1	SNV	1			1										PASS		rs756205892	.												T	3	4	42	129290709	129290709	G	T	1	0	0	0	0	1	0	0	0	7110	1145	40	1		1	HMCES	3	129290709	Missense_Mutation	SNP	G	C3N-00203_TP	1630233	129290709	69004850	124	12072											
COL6A6	0	.	GRCh38	chr3	130574517	130574517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caacatctgtaccacagcggGtgaaagcagtaagtatttag	14	9	10	8	1	1	1	0	1	1	0	1	1	1	1	1	1	4	4	1	1	6	5	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.3539G>T	p.Gly1180Val	p.G1180V	ENST00000358511	7/36	101	75	26	100	100	0	strelka-varscan-mutect	COL6A6,missense_variant,p.Gly1180Val,ENST00000358511,NM_001102608.1;	T	ENST00000358511	Transcript	missense_variant	3570/9581	3539/6792	1180/2263	G/V	gGt/gTt		1		1	COL6A6	HGNC	HGNC:27023	protein_coding	YES	CCDS46911.1	ENSP00000351310	A6NMZ7		UPI00015B6548	NM_001102608.1	tolerated(0.12)		7/36		hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF61																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	42	130574517	130574517	G	T	1	0	0	0	0	1	0	0	0	3492	1261	44	2		2	COL6A6	3	130574517	Missense_Mutation	SNP	G	C3N-00203_TP	1283808	130574517	67721042	125	12073											
CPNE4	0	.	GRCh38	chr3	131723530	131723530	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgatgtcatggacttcaaaCcgcaggcgctgcacctcctc	8	9	9	15	2	2	1	2	1	0	0	4	2	3	2	3	2	2	3	3	2	1	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.330G>T	p.=	p.R110R	ENST00000617767	3/16	309	285	24	240	240	0	strelka-varscan-mutect	CPNE4,synonymous_variant,p.=,ENST00000512055,;CPNE4,synonymous_variant,p.=,ENST00000429747,NM_130808.2;CPNE4,synonymous_variant,p.=,ENST00000617767,NM_001289112.1;CPNE4,synonymous_variant,p.=,ENST00000511604,;CPNE4,synonymous_variant,p.=,ENST00000512332,NM_153429.1;CPNE4,synonymous_variant,p.=,ENST00000502818,;CPNE4,synonymous_variant,p.=,ENST00000505881,;CPNE4,downstream_gene_variant,,ENST00000505957,;CPNE4,downstream_gene_variant,,ENST00000514999,;CPNE4,non_coding_transcript_exon_variant,,ENST00000515418,;	A	ENST00000617767	Transcript	synonymous_variant	525/3556	330/1728	110/575	R	cgG/cgT		1		-1	CPNE4	HGNC	HGNC:2317	protein_coding	YES	CCDS75010.1	ENSP00000478878	Q96A23		UPI000002A6F1	NM_001289112.1			3/16		hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF4,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	LOW	1	SNV	2			1										PASS		rs1168412024	.												A	2	1	42	131723530	131723530	C	A	1	0	0	0	0	0	0	0	1	3609	494	18	2		2	CPNE4	3	131723530	Silent	SNP	C	C3N-00203_TP	1149013	131723530	66572029	126	12074											
NPHP3	0	.	GRCh38	chr3	132699967	132699967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgctgccttgatgaCgagcagagagtttttccagc	9	12	12	8	1	0	5	0	4	0	1	1	7	1	5	2	0	4	3	2	0	0	3			C3N-00203_TP	C3N-00203_NB	C	C																c.1838G>T	p.Arg613Leu	p.R613L	ENST00000337331	12/27	405	372	33	313	312	1	strelka-varscan-mutect	NPHP3,missense_variant,p.Arg613Leu,ENST00000337331,NM_153240.4;NPHP3-ACAD11,missense_variant,p.Arg613Leu,ENST00000471702,;NPHP3,missense_variant,p.Arg515Leu,ENST00000465756,;NPHP3,non_coding_transcript_exon_variant,,ENST00000490993,;NPHP3,downstream_gene_variant,,ENST00000469232,;NPHP3,upstream_gene_variant,,ENST00000515289,;	A	ENST00000337331	Transcript	missense_variant	1925/4362	1838/3993	613/1330	R/L	cGt/cTt	COSM4113657	1		-1	NPHP3	HGNC	HGNC:7907	protein_coding	YES	CCDS3078.1	ENSP00000338766	Q7Z494		UPI00001B6B30	NM_153240.4	deleterious(0)		12/27		hmmpanther:PTHR19959:SF153,hmmpanther:PTHR19959,Gene3D:3.40.50.300,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		rs937330869	.												A	3	1	42	132699967	132699967	C	A	1	0	0	0	0	1	0	0	0	10628	536	19	1		1	NPHP3	3	132699967	Missense_Mutation	SNP	C	C3N-00203_TP	976437	132699967	65595592	127	12075											
PRR23C	0	.	GRCh38	chr3	139044482	139044482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccggggtccccgccgggtCttccgggctgggcgccgctc	0	6	18	17	6	1	0	0	0	1	0	4	0	3	0	6	6	0	2	6	6	0	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.139G>A	p.Asp47Asn	p.D47N	ENST00000413199	1/1	148	140	8	120	119	1	strelka-varscan-mutect	PRR23C,missense_variant,p.Asp47Asn,ENST00000413199,NM_001134657.1;MRPS22,intron_variant,,ENST00000495075,;	T	ENST00000413199	Transcript	missense_variant	411/2791	139/789	47/262	D/N	Gac/Aac		1		-1	PRR23C	HGNC	HGNC:37173	protein_coding	YES	CCDS46924.1	ENSP00000396648	Q6ZRP0		UPI00001C0F48	NM_001134657.1	tolerated(0.67)		1/1		hmmpanther:PTHR31813:SF6,hmmpanther:PTHR31813,Pfam_domain:PF10630																	MODERATE		SNV				1										PASS		.	.												T	3	4	42	139044482	139044482	C	T	1	0	0	0	0	1	0	0	0	12731	913	32	3		3	PRR23C	3	139044482	Missense_Mutation	SNP	C	C3N-00203_TP	6344515	139044482	59251077	128	12076											
CLSTN2	0	.	GRCh38	chr3	140448518	140448518	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctttccttgtttgtttaGactggaccaagaggattgag	9	15	10	7	0	0	3	0	1	0	2	2	5	2	5	3	2	0	2	3	2	2	6	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.788-1G>A		p.X263_splice	ENST00000458420		135	120	15	72	72	0	strelka-varscan-mutect	CLSTN2,splice_acceptor_variant,,ENST00000458420,NM_022131.2;RP11-68L1.2,downstream_gene_variant,,ENST00000509191,;RP11-68L1.2,downstream_gene_variant,,ENST00000502712,;RP11-68L1.2,downstream_gene_variant,,ENST00000503357,;CLSTN2,splice_acceptor_variant,,ENST00000511524,;	A	ENST00000458420	Transcript	splice_acceptor_variant	-/14202	788/2868	263/955				1		1	CLSTN2	HGNC	HGNC:17448	protein_coding	YES	CCDS3112.1	ENSP00000402460	Q9H4D0		UPI00001B0051	NM_022131.2				5/16																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	42	140448518	140448518	G	A	1	0	0	0	0	0	0	1	0	3334	956	33	3		3	CLSTN2	3	140448518	Splice_Site	SNP	G	C3N-00203_TP	1404036	140448518	57847041	129	12077											
KPNA4	0	.	GRCh38	chr3	160531515	160531515	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaatattccagattttatTaagtcatcaattggtggatt	12	16	8	5	0	2	1	2	0	0	1	3	2	3	2	1	3	0	1	1	3	5	7	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.330A>G	p.=	p.L110L	ENST00000334256	6/17	186	150	36	157	157	0	strelka-varscan-mutect	KPNA4,synonymous_variant,p.=,ENST00000334256,NM_002268.4;	C	ENST00000334256	Transcript	synonymous_variant	636/8981	330/1566	110/521	L	ttA/ttG		1		-1	KPNA4	HGNC	HGNC:6397	protein_coding	YES	CCDS3191.1	ENSP00000334373	O00629		UPI0000001648	NM_002268.4			6/17		hmmpanther:PTHR23316:SF7,hmmpanther:PTHR23316,Pfam_domain:PF00514,Gene3D:1.25.10.10,PIRSF_domain:PIRSF005673,SMART_domains:SM00185,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	42	160531515	160531515	T	C	1	0	0	0	0	0	0	0	1	8312	1751	61	5		5	KPNA4	3	160531515	Silent	SNP	T	C3N-00203_TP	20082997	160531515	37764044	130	12078											
ZNF595	0	.	GRCh38	chr4	59436	59436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgtgttttcaggaactcGtaacattcagggatgtggcc	10	13	11	7	1	2	0	2	0	0	0	3	2	2	2	1	3	2	2	1	3	3	5			C3N-00203_TP	C3N-00203_NB	G	G																c.10G>T	p.Val4Leu	p.V4L	ENST00000610261	2/4	295	277	18	314	314	0	varscan-mutect	ZNF595,missense_variant,p.Val4Leu,ENST00000610261,NM_182524.3;ZNF595,missense_variant,p.Val4Leu,ENST00000609518,NM_001286052.1;ZNF595,missense_variant,p.Val4Leu,ENST00000509152,;ZNF595,intron_variant,,ENST00000608255,NM_001286053.1,NM_001286054.1;ZNF595,non_coding_transcript_exon_variant,,ENST00000502981,;	T	ENST00000610261	Transcript	missense_variant	214/2911	10/1947	4/648	V/L	Gta/Tta	COSM384440	1		1	ZNF595	HGNC	HGNC:27196	protein_coding	YES	CCDS75075.1	ENSP00000477392		Q7Z3I0	UPI00001A9D0D	NM_182524.3	tolerated(1)		2/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF303,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	42	59436	59436	G	T	1	0	0	0	0	1	0	0	0	18600	1145	40	1		1	ZNF595	4	59436	Missense_Mutation	SNP	G	C3N-00203_TP		59436	190155119	131	12079											
GAK	0	.	GRCh38	chr4	888915	888915	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagccgctctgtcccaccCcgcagaatgtccaggaagcc	10	5	10	16	2	1	2	0	0	1	2	3	3	3	3	6	1	2	2	6	1	3	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1137G>T	p.=	p.R379R	ENST00000314167	11/28	338	258	80	219	219	0	strelka-varscan-mutect	GAK,synonymous_variant,p.=,ENST00000314167,NM_005255.2;GAK,synonymous_variant,p.=,ENST00000511163,NM_001318134.1,NM_001286833.1;GAK,intron_variant,,ENST00000618573,;GAK,non_coding_transcript_exon_variant,,ENST00000504435,;GAK,downstream_gene_variant,,ENST00000505819,;GAK,upstream_gene_variant,,ENST00000504947,;	A	ENST00000314167	Transcript	synonymous_variant	1248/4442	1137/3936	379/1311	R	cgG/cgT		1		-1	GAK	HGNC	HGNC:4113	protein_coding	YES	CCDS3340.1	ENSP00000314499	O14976		UPI000012B04A	NM_005255.2			11/28		hmmpanther:PTHR23172:SF34,hmmpanther:PTHR23172																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	888915	888915	C	A	1	0	0	0	0	0	0	0	1	6063	610	22	2		2	GAK	4	888915	Silent	SNP	C	C3N-00203_TP	829479	888915	189325640	132	12080											
BOD1L1	0	.	GRCh38	chr4	13599713	13599713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactgccaacacgggacccGgttctttgcctcccctgact	6	10	8	17	2	2	1	1	1	1	0	3	2	3	2	5	2	3	1	5	2	1	2	rs3733557		C3N-00203_TP	C3N-00203_NB	G	G																c.7187C>T	p.Pro2396Leu	p.P2396L	ENST00000040738	10/26	260	202	58	251	251	0	strelka-varscan-mutect	BOD1L1,missense_variant,p.Pro2396Leu,ENST00000040738,NM_148894.2;	A	ENST00000040738	Transcript	missense_variant	7323/10565	7187/9156	2396/3051	P/L	cCg/cTg	rs3733557	1		-1	BOD1L1	HGNC	HGNC:31792	protein_coding	YES	CCDS3411.2	ENSP00000040738	Q8NFC6		UPI000066D9E3	NM_148894.2	tolerated(0.67)		10/26		hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3																	MODERATE	1	SNV	2			1										PASS		rs3733557	.												A	3	1	42	13599713	13599713	G	A	1	0	0	0	0	1	0	0	0	1639	1116	39	1		1	BOD1L1	4	13599713	Missense_Mutation	SNP	G	C3N-00203_TP	12710798	13599713	176614842	133	12081											
KCNIP4	0	.	GRCh38	chr4	20758834	20758834	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttacctccctgtggaaaGaactgcgagtaaatctcttt	11	13	7	10	1	1	1	0	0	1	1	3	3	2	2	2	1	4	1	2	1	6	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.345C>T	p.=	p.F115F	ENST00000382152	4/9	248	215	33	173	173	0	strelka-varscan-mutect	KCNIP4,synonymous_variant,p.=,ENST00000382148,NM_001035003.1;KCNIP4,synonymous_variant,p.=,ENST00000359001,NM_147182.3;KCNIP4,synonymous_variant,p.=,ENST00000382152,NM_025221.5;KCNIP4,synonymous_variant,p.=,ENST00000382150,NM_147183.3;KCNIP4,synonymous_variant,p.=,ENST00000447367,NM_147181.3;KCNIP4,synonymous_variant,p.=,ENST00000509207,NM_001035004.1;KCNIP4,non_coding_transcript_exon_variant,,ENST00000382149,;KCNIP4,3_prime_UTR_variant,,ENST00000515786,;	A	ENST00000382152	Transcript	synonymous_variant	513/1767	345/753	115/250	F	ttC/ttT		1		-1	KCNIP4	HGNC	HGNC:30083	protein_coding	YES	CCDS43216.1	ENSP00000371587	Q6PIL6		UPI000004A274	NM_025221.5			4/9		hmmpanther:PTHR23055:SF30,hmmpanther:PTHR23055,Gene3D:1.10.238.10,Pfam_domain:PF13833,Superfamily_domains:SSF47473																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	42	20758834	20758834	G	A	1	0	0	0	0	0	0	0	1	7958	933	33	3		3	KCNIP4	4	20758834	Silent	SNP	G	C3N-00203_TP	7159121	20758834	169455721	134	12082											
CORIN	0	.	GRCh38	chr4	47665264	47665264	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaattggttcacattgacCtaacaaagaaacatacacac	17	10	5	9	0	1	2	1	1	0	1	1	2	1	2	1	1	3	2	1	1	5	6	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1358-1G>A		p.X453_splice	ENST00000273857		137	115	22	142	142	0	strelka-varscan-mutect	CORIN,splice_acceptor_variant,,ENST00000273857,NM_006587.3;CORIN,splice_acceptor_variant,,ENST00000610355,NM_001278585.1;CORIN,splice_acceptor_variant,,ENST00000508498,;CORIN,splice_acceptor_variant,,ENST00000502252,;CORIN,splice_acceptor_variant,,ENST00000505909,;CORIN,splice_acceptor_variant,,ENST00000504584,NM_001278586.1;CORIN,splice_acceptor_variant,,ENST00000503821,;CORIN,upstream_gene_variant,,ENST00000505754,;	T	ENST00000273857	Transcript	splice_acceptor_variant	-/4852	1358/3129	453/1042				1		-1	CORIN	HGNC	HGNC:19012	protein_coding	YES	CCDS3477.1	ENSP00000273857	Q9Y5Q5		UPI0000168657	NM_006587.3				10/21																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	42	47665264	47665264	C	T	1	0	0	0	0	0	0	1	0	3546	695	24	3		3	CORIN	4	47665264	Splice_Site	SNP	C	C3N-00203_TP	26906430	47665264	142549291	135	12083											
CWH43	0	.	GRCh38	chr4	49003982	49003982	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgctagagaaagatcagaTgtgcttttgggtgagtacat	12	12	12	5	1	1	4	1	1	0	3	1	5	1	4	0	1	3	3	0	1	4	5	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.1050T>A	p.Asp350Glu	p.D350E	ENST00000226432	7/16	117	90	27	72	72	0	strelka-varscan-mutect	CWH43,missense_variant,p.Asp350Glu,ENST00000226432,NM_025087.2;CWH43,missense_variant,p.Asp323Glu,ENST00000513409,NM_001286791.1;CWH43,non_coding_transcript_exon_variant,,ENST00000506221,;CWH43,intron_variant,,ENST00000514053,;	A	ENST00000226432	Transcript	missense_variant	1233/2472	1050/2100	350/699	D/E	gaT/gaA		1		1	CWH43	HGNC	HGNC:26133	protein_coding	YES	CCDS3486.1	ENSP00000226432	Q9H720		UPI000020BC89	NM_025087.2	deleterious(0.03)		7/16		hmmpanther:PTHR14859,hmmpanther:PTHR14859:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	49003982	49003982	T	A	1	0	0	0	0	1	0	0	0	3883	1461	51	4		4	CWH43	4	49003982	Missense_Mutation	SNP	T	C3N-00203_TP	1338718	49003982	141210573	136	12084											
KDR	0	.	GRCh38	chr4	55088953	55088953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgggctccccgtgccagCagtccagcatggtctggtac	6	8	13	14	1	1	0	0	0	1	0	3	1	3	0	4	3	4	4	4	3	1	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.3425G>T	p.Cys1142Phe	p.C1142F	ENST00000263923	26/30	395	302	93	368	368	0	strelka-varscan-mutect	KDR,missense_variant,p.Cys1142Phe,ENST00000263923,NM_002253.2;RP11-530I17.1,intron_variant,,ENST00000511222,;	A	ENST00000263923	Transcript	missense_variant	3721/5831	3425/4071	1142/1356	C/F	tGc/tTc		1		-1	KDR	HGNC	HGNC:6307	protein_coding	YES	CCDS3497.1	ENSP00000263923	P35968	A0A024RD88	UPI000003AE04	NM_002253.2	deleterious(0)		26/30		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	55088953	55088953	C	A	1	0	0	0	0	1	0	0	0	8059	710	25	2		2	KDR	4	55088953	Missense_Mutation	SNP	C	C3N-00203_TP	6084971	55088953	135125602	137	12085											
NOA1	0	.	GRCh38	chr4	56976524	56976524	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactccaggagcgtgttaaaGagagtggatttgccggcgtt	9	10	15	7	3	0	1	0	0	0	1	1	5	1	3	2	3	2	2	2	3	2	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1062C>G	p.=	p.L354L	ENST00000264230	1/7	240	184	56	172	172	0	strelka-varscan-mutect	NOA1,synonymous_variant,p.=,ENST00000264230,NM_032313.2;POLR2B,upstream_gene_variant,,ENST00000381227,;POLR2B,upstream_gene_variant,,ENST00000441246,NM_001303269.1;POLR2B,upstream_gene_variant,,ENST00000314595,NM_000938.2;POLR2B,upstream_gene_variant,,ENST00000431623,NM_001303268.1;POLR2B,upstream_gene_variant,,ENST00000450656,;POLR2B,upstream_gene_variant,,ENST00000433463,;POLR2B,upstream_gene_variant,,ENST00000497845,;POLR2B,upstream_gene_variant,,ENST00000495311,;	C	ENST00000264230	Transcript	synonymous_variant	2300/3415	1062/2097	354/698	L	ctC/ctG		1		-1	NOA1	HGNC	HGNC:28473	protein_coding	YES	CCDS3510.1	ENSP00000264230	Q8NC60		UPI000006DAEE	NM_032313.2			1/7		PROSITE_profiles:PS51721,hmmpanther:PTHR11089,hmmpanther:PTHR11089:SF3,Gene3D:3.40.50.300,Pfam_domain:PF01926,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	42	56976524	56976524	G	C	1	0	0	0	0	0	0	0	1	10552	929	33	4		4	NOA1	4	56976524	Silent	SNP	G	C3N-00203_TP	1887571	56976524	133238031	138	12086											
NAAA	0	.	GRCh38	chr4	75921090	75921090	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcttggccaacttgccaaCagctgcttcgaagttttccg	8	12	9	12	2	1	0	0	0	1	0	3	1	2	0	3	1	5	3	3	1	3	5	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.700G>T	p.Val234Phe	p.V234F	ENST00000286733	6/11	93	71	22	75	75	0	strelka-varscan-mutect	NAAA,missense_variant,p.Val234Phe,ENST00000286733,NM_014435.3;NAAA,missense_variant,p.Val133Phe,ENST00000505594,;NAAA,missense_variant,p.Val234Phe,ENST00000507956,;NAAA,missense_variant,p.Val109Phe,ENST00000602782,;NAAA,upstream_gene_variant,,ENST00000511606,;NAAA,missense_variant,p.Val39Phe,ENST00000513045,;	A	ENST00000286733	Transcript	missense_variant	802/1900	700/1080	234/359	V/F	Gtt/Ttt		1		-1	NAAA	HGNC	HGNC:736	protein_coding	YES	CCDS43239.1	ENSP00000286733	Q02083		UPI00001AEAEE	NM_014435.3	deleterious(0.04)		6/11		Pfam_domain:PF02275,PIRSF_domain:PIRSF017632,hmmpanther:PTHR28583,hmmpanther:PTHR28583:SF4																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	42	75921090	75921090	C	A	1	0	0	0	0	1	0	0	0	10131	478	17	2		2	NAAA	4	75921090	Missense_Mutation	SNP	C	C3N-00203_TP	18944566	75921090	114293465	139	12087											
PRDM8	0	.	GRCh38	chr4	80203327	80203327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcacctcgctgtgtctgcCcgcgcagaactggtgcgcca	5	9	11	16	4	2	1	1	0	1	1	3	1	2	1	3	1	3	2	3	1	1	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1865C>A	p.Pro622His	p.P622H	ENST00000339711	10/10	416	328	88	400	399	1	strelka-varscan-mutect	PRDM8,missense_variant,p.Pro622His,ENST00000339711,NM_020226.3;PRDM8,missense_variant,p.Pro622His,ENST00000504452,;PRDM8,missense_variant,p.Pro622His,ENST00000415738,NM_001099403.1;PRDM8,downstream_gene_variant,,ENST00000515013,;	A	ENST00000339711	Transcript	missense_variant	3096/4095	1865/2070	622/689	P/H	cCc/cAc		1		1	PRDM8	HGNC	HGNC:13993	protein_coding	YES	CCDS43243.1	ENSP00000339764	Q9NQV8	A0A024RDC4	UPI0000422A1D	NM_020226.3	deleterious(0)		10/10		hmmpanther:PTHR16516,hmmpanther:PTHR16516:SF7,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	80203327	80203327	C	A	1	0	0	0	0	1	0	0	0	12594	623	22	2		2	PRDM8	4	80203327	Missense_Mutation	SNP	C	C3N-00203_TP	4282237	80203327	110011228	140	12088											
SPP1	0	.	GRCh38	chr4	87980401	87980401	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcttcagaatgctgtGtcctctgaagaaaccaatga	11	13	7	10	0	3	4	1	2	2	2	5	4	5	4	3	0	2	1	3	0	4	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.183G>A	p.=	p.V61V	ENST00000395080	5/7	273	207	66	215	215	0	strelka-varscan-mutect	SPP1,synonymous_variant,p.=,ENST00000614857,NM_001251830.1;SPP1,synonymous_variant,p.=,ENST00000395080,NM_001040058.1;SPP1,synonymous_variant,p.=,ENST00000360804,NM_001040060.1;SPP1,intron_variant,,ENST00000237623,NM_000582.2;SPP1,intron_variant,,ENST00000508233,NM_001251829.1;SPP1,non_coding_transcript_exon_variant,,ENST00000509659,;SPP1,non_coding_transcript_exon_variant,,ENST00000513981,;SPP1,intron_variant,,ENST00000509334,;SPP1,non_coding_transcript_exon_variant,,ENST00000508002,;SPP1,downstream_gene_variant,,ENST00000504310,;SPP1,downstream_gene_variant,,ENST00000505146,;	A	ENST00000395080	Transcript	synonymous_variant	310/1473	183/945	61/314	V	gtG/gtA		1		1	SPP1	HGNC	HGNC:11255	protein_coding	YES	CCDS43250.1	ENSP00000378517	P10451	A0A024RDE2	UPI0000000E0B	NM_001040058.1			5/7		hmmpanther:PTHR10607:SF1,hmmpanther:PTHR10607,Pfam_domain:PF00865,SMART_domains:SM00017,Prints_domain:PR00216																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	87980401	87980401	G	A	1	0	0	0	0	0	0	0	1	15439	1364	48	3		3	SPP1	4	87980401	Silent	SNP	G	C3N-00203_TP	7777074	87980401	102234154	141	12089											
MMRN1	0	.	GRCh38	chr4	89936262	89936262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaaaattttgagactcGgttgcaagacattgagtcta	13	13	8	7	1	1	3	0	2	1	2	3	4	2	3	1	1	1	2	1	1	4	6	rs778039444		C3N-00203_TP	C3N-00203_NB	G	G																c.2582G>A	p.Arg861Gln	p.R861Q	ENST00000394980	7/9	153	124	29	147	146	1	strelka-varscan-mutect	MMRN1,missense_variant,p.Arg861Gln,ENST00000394980,;MMRN1,missense_variant,p.Arg861Gln,ENST00000264790,NM_007351.2;MMRN1,missense_variant,p.Arg603Gln,ENST00000508372,;	A	ENST00000394980	Transcript	missense_variant	2901/5217	2582/3687	861/1228	R/Q	cGg/cAg	rs778039444,COSM2957873	1		1	MMRN1	HGNC	HGNC:7178	protein_coding	YES	CCDS3635.1	ENSP00000378431	Q13201		UPI000013D570		tolerated(0.08)		7/9		hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs778039444	.												A	3	1	42	89936262	89936262	G	A	1	0	0	0	0	1	0	0	0	9633	1116	39	1		1	MMRN1	4	89936262	Missense_Mutation	SNP	G	C3N-00203_TP	1955861	89936262	100278293	142	12090											
GRID2	0	.	GRCh38	chr4	93515378	93515378	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaagcaatggatcggagaaCaatgttctggagtcccaggc	12	7	13	9	2	1	1	0	0	1	1	3	5	2	3	1	4	2	2	1	4	4	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.2160C>G	p.Asn720Lys	p.N720K	ENST00000282020	13/16	156	109	47	130	130	0	strelka-varscan-mutect	GRID2,missense_variant,p.Asn720Lys,ENST00000282020,NM_001510.3;GRID2,missense_variant,p.Asn639Lys,ENST00000611049,;GRID2,missense_variant,p.Asn625Lys,ENST00000510992,NM_001286838.1;	G	ENST00000282020	Transcript	missense_variant	3195/6117	2160/3024	720/1007	N/K	aaC/aaG		1		1	GRID2	HGNC	HGNC:4576	protein_coding	YES	CCDS3637.1	ENSP00000282020	O43424		UPI00001AEA78	NM_001510.3	deleterious(0.01)		13/16		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF109,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	42	93515378	93515378	C	G	1	0	0	0	0	1	0	0	0	6652	477	17	4		4	GRID2	4	93515378	Missense_Mutation	SNP	C	C3N-00203_TP	3579116	93515378	96699177	143	12091											
LAMTOR3	0	.	GRCh38	chr4	99885656	99885656	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcgcaaagcatgctcTggagcattgtcatttgccac	9	10	10	12	1	2	0	1	0	1	0	3	1	2	1	2	2	4	4	2	2	1	2	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.123A>G	p.=	p.P41P	ENST00000499666	5/7	316	257	59	236	236	0	strelka-varscan-mutect	LAMTOR3,splice_acceptor_variant,,ENST00000226522,NM_001243736.1;LAMTOR3,synonymous_variant,p.=,ENST00000499666,NM_021970.3;LAMTOR3,non_coding_transcript_exon_variant,,ENST00000515100,;	C	ENST00000499666	Transcript	synonymous_variant	316/4226	123/375	41/124	P	ccA/ccG		1		-1	LAMTOR3	HGNC	HGNC:15606	protein_coding	YES	CCDS3652.1	ENSP00000424183	Q9UHA4		UPI000012F194	NM_021970.3			5/7		Gene3D:3.30.450.30,Pfam_domain:PF08923,hmmpanther:PTHR13378,SMART_domains:SM01278,Superfamily_domains:SSF103196																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	42	99885656	99885656	T	C	1	0	0	0	0	0	0	0	1	8527	1594	55	5		5	LAMTOR3	4	99885656	Silent	SNP	T	C3N-00203_TP	6370278	99885656	90328899	144	12092											
SLC9B2	0	.	GRCh38	chr4	103044927	103044927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtactgaatgaaaaatccaAgaacagatccagttgccaca	18	7	7	9	0	0	4	0	2	0	2	2	4	2	4	3	0	3	2	3	0	6	2	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.959T>C	p.Leu320Pro	p.L320P	ENST00000394785	8/12	289	235	54	262	261	1	strelka-varscan-mutect	SLC9B2,missense_variant,p.Leu320Pro,ENST00000394785,NM_178833.5;SLC9B2,missense_variant,p.Leu320Pro,ENST00000362026,;SLC9B2,missense_variant,p.Leu263Pro,ENST00000503103,NM_001300756.1;SLC9B2,missense_variant,p.Leu263Pro,ENST00000503230,NM_001300754.1;SLC9B2,missense_variant,p.Leu220Pro,ENST00000506288,;SLC9B2,non_coding_transcript_exon_variant,,ENST00000510976,;SLC9B2,downstream_gene_variant,,ENST00000515424,;	G	ENST00000394785	Transcript	missense_variant	1591/3126	959/1614	320/537	L/P	cTt/cCt		1		-1	SLC9B2	HGNC	HGNC:25143	protein_coding	YES	CCDS3662.1	ENSP00000378265	Q86UD5	A0A024RDJ7	UPI000020B27F	NM_178833.5	deleterious(0)		8/12		Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF6,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		rs993336465	.												G	3	3	42	103044927	103044927	A	G	1	0	0	0	0	1	0	0	0	15005	72	3	5		5	SLC9B2	4	103044927	Missense_Mutation	SNP	A	C3N-00203_TP	3159271	103044927	87169628	145	12093											
ANK2	0	.	GRCh38	chr4	113255767	113255767	+	Missense_Mutation	SNP	G	G	T																															ccactacacatggctgcccaGggagaccacgtggaatgtgt																								novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1023G>T	p.Gln341His	p.Q341H	ENST00000357077	11/46	454	371	83	394	394	0	strelka-varscan-mutect	ANK2,missense_variant,p.Gln341His,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Gln341His,ENST00000264366,;ANK2,missense_variant,p.Gln320His,ENST00000506722,NM_001127493.1;ANK2,missense_variant,p.Gln341His,ENST00000394537,NM_020977.3;ANK2,missense_variant,p.Gln356His,ENST00000504454,;ANK2,missense_variant,p.Gln320His,ENST00000503423,;ANK2,missense_variant,p.Gln313His,ENST00000634436,;ANK2,missense_variant,p.Gln320His,ENST00000503271,;	T	ENST00000357077	Transcript	missense_variant	1076/14196	1023/11874	341/3957	Q/H	caG/caT		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	deleterious(0)		11/46		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,Gene3D:1.25.40.20,Pfam_domain:PF00023,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	113255767	113255767	G	T	1	0	0	0	0	1	0	0	0	721	991	35	2		2	ANK2	4	113255767	Missense_Mutation	SNP	G	C3N-00203_TP	10210840	113255767	76958788	146	12094	274	2									
ANK2	0	.	GRCh38	chr4	113255768	113255768	+	Nonsense_Mutation	SNP	G	G	T																															cactacacatggctgcccagGgagaccacgtggaatgtgtg																										C3N-00203_TP	C3N-00203_NB	G	G																c.1024G>T	p.Gly342Ter	p.G342*	ENST00000357077	11/46	457	376	81	390	390	0	strelka-varscan-mutect	ANK2,stop_gained,p.Gly342Ter,ENST00000357077,NM_001148.4;ANK2,stop_gained,p.Gly342Ter,ENST00000264366,;ANK2,stop_gained,p.Gly321Ter,ENST00000506722,NM_001127493.1;ANK2,stop_gained,p.Gly342Ter,ENST00000394537,NM_020977.3;ANK2,stop_gained,p.Gly357Ter,ENST00000504454,;ANK2,stop_gained,p.Gly321Ter,ENST00000503423,;ANK2,stop_gained,p.Gly314Ter,ENST00000634436,;ANK2,stop_gained,p.Gly321Ter,ENST00000503271,;	T	ENST00000357077	Transcript	stop_gained	1077/14196	1024/11874	342/3957	G/*	Gga/Tga	COSM5400315,COSM5400316	1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4			11/46		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,Gene3D:1.25.40.20,Pfam_domain:PF00023,SMART_domains:SM00248,Superfamily_domains:SSF48403											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												T	4	4	42	113255768	113255768	G	T	1	0	0	0	0	0	1	0	0	721	1233	43	2		2	ANK2	4	113255768	Nonsense_Mutation	SNP	G	C3N-00203_TP	1	113255768	76958787	147	12095	274	2									
ANK2	0	.	GRCh38	chr4	113277932	113277932	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgccgcagattctgcaggGaaggtaaagattttctatac	11	11	11	8	1	2	2	0	0	2	2	2	3	2	3	1	2	3	4	1	2	5	6	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1779G>A	p.=	p.G593G	ENST00000357077	16/46	485	404	81	378	378	0	strelka-varscan-mutect	ANK2,synonymous_variant,p.=,ENST00000357077,NM_001148.4;ANK2,synonymous_variant,p.=,ENST00000264366,;ANK2,synonymous_variant,p.=,ENST00000506722,NM_001127493.1;ANK2,synonymous_variant,p.=,ENST00000394537,NM_020977.3;ANK2,synonymous_variant,p.=,ENST00000504454,;ANK2,synonymous_variant,p.=,ENST00000503423,;ANK2,synonymous_variant,p.=,ENST00000634436,;ANK2,synonymous_variant,p.=,ENST00000503271,;	A	ENST00000357077	Transcript	synonymous_variant	1832/14196	1779/11874	593/3957	G	ggG/ggA		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4			16/46		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	113277932	113277932	G	A	1	0	0	0	0	0	0	0	1	721	1188	41	3		3	ANK2	4	113277932	Silent	SNP	G	C3N-00203_TP	22164	113277932	76936623	148	12096											
KIAA1109	0	.	GRCh38	chr4	122333749	122333749	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaaagtgccatcatctctAcagacaaagcctagtgactt	15	9	7	10	0	2	3	1	1	1	2	3	3	2	3	2	0	3	0	2	0	5	3	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.11586A>C	p.=	p.L3862L	ENST00000264501	68/86	419	333	86	357	357	0	strelka-varscan-mutect	KIAA1109,synonymous_variant,p.=,ENST00000264501,;KIAA1109,synonymous_variant,p.=,ENST00000388738,NM_015312.3;KIAA1109,synonymous_variant,p.=,ENST00000438707,;KIAA1109,synonymous_variant,p.=,ENST00000306802,;KIAA1109,upstream_gene_variant,,ENST00000483357,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000480651,;	C	ENST00000264501	Transcript	synonymous_variant	11959/15896	11586/15018	3862/5005	L	ctA/ctC		1		1	KIAA1109	HGNC	HGNC:26953	protein_coding	YES	CCDS43267.1	ENSP00000264501	Q2LD37		UPI0000DD87B4				68/86		hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	42	122333749	122333749	A	C	1	0	0	0	0	0	0	0	1	8101	378	14	5		5	KIAA1109	4	122333749	Silent	SNP	A	C3N-00203_TP	9055817	122333749	67880806	149	12097											
MFSD8	0	.	GRCh38	chr4	127943935	127943935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaagctaccatttggcCaagactatatgaagcaataa	16	9	9	7	0	0	3	0	2	0	1	0	3	0	3	2	2	3	2	2	2	8	5	rs552923962		C3N-00203_TP	C3N-00203_NB	C	C																c.256G>T	p.Gly86Cys	p.G86C	ENST00000296468	5/13	437	337	100	334	334	0	strelka-varscan-mutect	MFSD8,missense_variant,p.Gly86Cys,ENST00000296468,NM_152778.2;MFSD8,missense_variant,p.Gly41Cys,ENST00000513559,;MFSD8,non_coding_transcript_exon_variant,,ENST00000515130,;MFSD8,non_coding_transcript_exon_variant,,ENST00000505284,;MFSD8,non_coding_transcript_exon_variant,,ENST00000508441,;MFSD8,missense_variant,p.Gly41Cys,ENST00000509826,;	A	ENST00000296468	Transcript	missense_variant	384/4510	256/1557	86/518	G/C	Ggc/Tgc	rs552923962	1		-1	MFSD8	HGNC	HGNC:28486	protein_coding	YES	CCDS3736.1	ENSP00000296468	Q8NHS3		UPI000004DAF1	NM_152778.2	deleterious(0.02)		5/13		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR23510,hmmpanther:PTHR23510:SF3,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		rs552923962	.												A	3	1	42	127943935	127943935	C	A	1	0	0	0	0	1	0	0	0	9496	594	21	2		2	MFSD8	4	127943935	Missense_Mutation	SNP	C	C3N-00203_TP	5610186	127943935	62270620	150	12098											
TRIM61	0	.	GRCh38	chr4	164969858	164969858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggggcaggggaaactatCatgtagatccttccaggaca	14	7	12	8	0	1	1	1	0	0	1	3	3	3	3	2	5	1	2	2	5	4	3			C3N-00203_TP	C3N-00203_NB	C	C																c.145G>A	p.Asp49Asn	p.D49N	ENST00000329314	3/5	695	612	83	581	581	0	varscan-mutect	TRIM61,missense_variant,p.Asp49Asn,ENST00000329314,NM_001012414.2;RP11-366M4.11,non_coding_transcript_exon_variant,,ENST00000508856,;	T	ENST00000329314	Transcript	missense_variant	758/1582	145/630	49/209	D/N	Gat/Aat	COSM3601660	1		-1	TRIM61	HGNC	HGNC:24339	protein_coding	YES	CCDS34093.1	ENSP00000332288	Q5EBN2		UPI00004CEC1B	NM_001012414.2	tolerated(0.1)		3/5		PROSITE_profiles:PS50089,hmmpanther:PTHR24103:SF304,hmmpanther:PTHR24103,Gene3D:3.30.40.10,Pfam_domain:PF15227,SMART_domains:SM00184,Superfamily_domains:SSF57850											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	42	164969858	164969858	C	T	1	0	0	0	0	1	0	0	0	17028	826	29	3		3	TRIM61	4	164969858	Missense_Mutation	SNP	C	C3N-00203_TP	37025923	164969858	25244697	151	12099											
SPOCK3	0	.	GRCh38	chr4	166912713	166912713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatatgggacccctccaCtgcctatggtctactcctgc	8	11	8	14	0	1	0	0	0	1	0	3	2	3	1	5	2	3	0	5	2	4	4	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.390G>C	p.Gln130His	p.Q130H	ENST00000357154	6/12	191	156	35	182	182	0	strelka-varscan-mutect	SPOCK3,missense_variant,p.Gln79His,ENST00000421836,NM_001204352.1;SPOCK3,missense_variant,p.Gln130His,ENST00000357154,NM_016950.2;SPOCK3,missense_variant,p.Gln130His,ENST00000506886,;SPOCK3,missense_variant,p.Gln127His,ENST00000357545,NM_001040159.1;SPOCK3,missense_variant,p.Gln130His,ENST00000511531,;SPOCK3,missense_variant,p.Gln127His,ENST00000504953,;SPOCK3,missense_variant,p.Gln10His,ENST00000541354,NM_001204355.1,NM_001204353.1;SPOCK3,missense_variant,p.Gln130His,ENST00000502330,;SPOCK3,missense_variant,p.Gln38His,ENST00000535728,NM_001204354.1;SPOCK3,missense_variant,p.Gln127His,ENST00000510741,NM_001204356.1;SPOCK3,missense_variant,p.Gln127His,ENST00000511269,;SPOCK3,missense_variant,p.Gln127His,ENST00000512648,NM_001204358.1;SPOCK3,missense_variant,p.Gln127His,ENST00000509854,;SPOCK3,intron_variant,,ENST00000512681,NM_001251967.1;SPOCK3,intron_variant,,ENST00000510403,;SPOCK3,3_prime_UTR_variant,,ENST00000502821,;SPOCK3,3_prime_UTR_variant,,ENST00000511905,;SPOCK3,3_prime_UTR_variant,,ENST00000505187,;SPOCK3,3_prime_UTR_variant,,ENST00000507370,;SPOCK3,3_prime_UTR_variant,,ENST00000511226,;SPOCK3,3_prime_UTR_variant,,ENST00000515316,;SPOCK3,intron_variant,,ENST00000502741,;SPOCK3,intron_variant,,ENST00000507086,;SPOCK3,intron_variant,,ENST00000515143,;	G	ENST00000357154	Transcript	missense_variant	528/2986	390/1311	130/436	Q/H	caG/caC		1		-1	SPOCK3	HGNC	HGNC:13565	protein_coding	YES	CCDS54817.1	ENSP00000349677	Q9BQ16		UPI000004BA60	NM_016950.2	tolerated(0.47)		6/12		hmmpanther:PTHR22118,hmmpanther:PTHR22118:SF10,Superfamily_domains:SSF100895																	MODERATE	1	SNV	5			1										PASS		rs1355513406	.												G	3	3	42	166912713	166912713	C	G	1	0	0	0	0	1	0	0	0	15434	564	20	4		4	SPOCK3	4	166912713	Missense_Mutation	SNP	C	C3N-00203_TP	1942855	166912713	23301842	152	12100											
DDX60L	0	.	GRCh38	chr4	168406063	168406063	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attcttaaaaagaatgaattCctctggacacaattccttgg	14	13	6	8	0	2	2	0	1	2	1	4	3	4	3	2	2	0	0	2	2	6	5			C3N-00203_TP	C3N-00203_NB	C	C																c.3100G>T	p.Glu1034Ter	p.E1034*	ENST00000260184	24/38	191	148	43	154	154	0	strelka-varscan-mutect	DDX60L,stop_gained,p.Glu1034Ter,ENST00000511577,;DDX60L,stop_gained,p.Glu1034Ter,ENST00000260184,NM_001012967.2;DDX60L,stop_gained,p.Glu1034Ter,ENST00000505890,NM_001291510.1;DDX60L,stop_gained,p.Glu730Ter,ENST00000505863,;	A	ENST00000260184	Transcript	stop_gained	3321/6754	3100/5121	1034/1706	E/*	Gaa/Taa	COSM5400835,COSM5400836	1		-1	DDX60L	HGNC	HGNC:26429	protein_coding	YES	CCDS47161.1	ENSP00000260184	Q5H9U9		UPI0003EAE873	NM_001012967.2			24/38													1,1						HIGH	1	SNV	5		1,1	1										PASS		.	.												A	4	1	42	168406063	168406063	C	A	1	0	0	0	0	0	1	0	0	4182	864	30	2		2	DDX60L	4	168406063	Nonsense_Mutation	SNP	C	C3N-00203_TP	1493350	168406063	21808492	153	12101											
NEK1	0	.	GRCh38	chr4	169599177	169599177	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctcacagtaatccattaCtatgtagagagagccatttt	12	13	6	10	0	1	2	1	0	0	2	3	3	3	2	3	0	2	2	3	0	4	6	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.235G>T	p.Val79Leu	p.V79L	ENST00000507142	5/36	226	183	43	228	228	0	strelka-varscan-mutect	NEK1,missense_variant,p.Val79Leu,ENST00000439128,NM_012224.2;NEK1,missense_variant,p.Val79Leu,ENST00000507142,NM_001199397.1;NEK1,missense_variant,p.Val79Leu,ENST00000511633,NM_001199398.1;NEK1,missense_variant,p.Val79Leu,ENST00000510533,NM_001199400.1;NEK1,missense_variant,p.Val79Leu,ENST00000512193,NM_001199399.1;NEK1,stop_lost,p.Ter46TyrextTer1,ENST00000510108,;NEK1,upstream_gene_variant,,ENST00000509912,;	A	ENST00000507142	Transcript	missense_variant	815/5556	235/3861	79/1286	V/L	Gta/Tta		1		-1	NEK1	HGNC	HGNC:7744	protein_coding	YES	CCDS56351.1	ENSP00000424757	Q96PY6		UPI00001D76CA	NM_001199397.1	deleterious(0)		5/36		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF36,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs1367769528	.												A	3	1	42	169599177	169599177	C	A	1	0	0	0	0	1	0	0	0	10349	565	20	2		2	NEK1	4	169599177	Missense_Mutation	SNP	C	C3N-00203_TP	1193114	169599177	20615378	154	12102											
FAT1	0	.	GRCh38	chr4	186636069	186636069	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccaggaggctccacagatAttactccaatcatgtgagca	12	9	9	11	0	1	2	1	1	0	1	3	3	3	3	3	2	3	2	3	2	3	2	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.4139T>A	p.Ile1380Lys	p.I1380K	ENST00000441802	6/27	320	248	72	292	292	0	strelka-varscan-mutect	FAT1,missense_variant,p.Ile1380Lys,ENST00000441802,NM_005245.3;FAT1,missense_variant,p.Ile1380Lys,ENST00000614102,;	T	ENST00000441802	Transcript	missense_variant	4349/14786	4139/13767	1380/4588	I/K	aTa/aAa		1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3	deleterious(0)		6/27		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	42	186636069	186636069	A	T	1	0	0	0	0	1	0	0	0	5549	449	16	4		4	FAT1	4	186636069	Missense_Mutation	SNP	A	C3N-00203_TP	17036892	186636069	3578486	155	12103											
ADAMTS16	0	.	GRCh38	chr5	5209236	5209236	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaagctctgcatgctggActttaaaaaggcaagtgatt	13	10	10	8	0	1	1	0	1	1	0	1	2	1	2	1	2	4	4	1	2	5	3	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.1595A>T	p.Asp532Val	p.D532V	ENST00000274181	10/23	124	91	33	88	87	1	strelka-varscan-mutect	ADAMTS16,missense_variant,p.Asp532Val,ENST00000274181,NM_139056.2;ADAMTS16,missense_variant,p.Asp532Val,ENST00000511368,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	T	ENST00000274181	Transcript	missense_variant	1733/4979	1595/3675	532/1224	D/V	gAc/gTc		1		1	ADAMTS16	HGNC	HGNC:17108	protein_coding	YES	CCDS43299.1	ENSP00000274181	Q8TE57		UPI00004572CA	NM_139056.2	deleterious(0)		10/23		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	42	5209236	5209236	A	T	1	0	0	0	0	1	0	0	0	305	275	10	4		4	ADAMTS16	5	5209236	Missense_Mutation	SNP	A	C3N-00203_TP		5209236	176329023	156	12104											
ADCY2	0	.	GRCh38	chr5	7695795	7695795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttacccggctggcaagtGactgctccccgggagaacta	8	8	12	13	2	0	2	0	1	0	1	1	3	1	2	3	3	3	4	3	3	4	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.913G>T	p.Asp305Tyr	p.D305Y	ENST00000338316	6/25	217	178	39	220	220	0	strelka-varscan-mutect	ADCY2,missense_variant,p.Asp305Tyr,ENST00000338316,NM_020546.2;ADCY2,missense_variant,p.Asp94Tyr,ENST00000515681,;ADCY2,downstream_gene_variant,,ENST00000513693,;	T	ENST00000338316	Transcript	missense_variant	1002/6575	913/3276	305/1091	D/Y	Gac/Tac		1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2	deleterious(0)		6/25		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,SMART_domains:SM00044,Superfamily_domains:SSF55073																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	7695795	7695795	G	T	1	0	0	0	0	1	0	0	0	338	1290	45	2		2	ADCY2	5	7695795	Missense_Mutation	SNP	G	C3N-00203_TP	2486559	7695795	173842464	157	12105											
NPR3	0	.	GRCh38	chr5	32782898	32782898	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcctctatataggttatTggtgattattttggaaaaga	11	18	9	3	0	1	2	0	1	1	1	1	3	1	3	1	3	1	1	1	3	7	9	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.1296T>C	p.=	p.I432I	ENST00000265074	6/8	99	73	26	86	86	0	strelka-varscan-mutect	NPR3,synonymous_variant,p.=,ENST00000265074,NM_001204375.1;NPR3,synonymous_variant,p.=,ENST00000326958,NM_001204376.1;NPR3,synonymous_variant,p.=,ENST00000434067,;NPR3,synonymous_variant,p.=,ENST00000415167,NM_000908.3;NPR3,synonymous_variant,p.=,ENST00000509104,;NPR3,non_coding_transcript_exon_variant,,ENST00000506712,;	C	ENST00000265074	Transcript	synonymous_variant	1639/7344	1296/1626	432/541	I	atT/atC		1		1	NPR3	HGNC	HGNC:7945	protein_coding	YES	CCDS56357.1	ENSP00000265074	P17342		UPI0000125B46	NM_001204375.1			6/8		hmmpanther:PTHR11920:SF302,hmmpanther:PTHR11920,Superfamily_domains:SSF53822																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	42	32782898	32782898	T	C	1	0	0	0	0	0	0	0	1	10652	1826	63	5		5	NPR3	5	32782898	Silent	SNP	T	C3N-00203_TP	25087103	32782898	148755361	158	12106											
CAPSL	0	.	GRCh38	chr5	35909933	35909933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatacttgttcctcactcCattccccattctggtacttt	8	17	3	13	0	2	0	1	0	1	0	5	0	5	0	4	1	2	2	4	1	4	8	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.458G>T	p.Trp153Leu	p.W153L	ENST00000397367	4/5	230	191	39	209	209	0	strelka-varscan-mutect	CAPSL,missense_variant,p.Trp153Leu,ENST00000397367,NM_144647.3;CAPSL,missense_variant,p.Trp153Leu,ENST00000397366,NM_001042625.1;CAPSL,missense_variant,p.Trp153Leu,ENST00000513623,;CAPSL,missense_variant,p.Trp153Leu,ENST00000514524,;	A	ENST00000397367	Transcript	missense_variant	585/1004	458/627	153/208	W/L	tGg/tTg		1		-1	CAPSL	HGNC	HGNC:28375	protein_coding	YES	CCDS3912.2	ENSP00000380524	Q8WWF8		UPI0000149B20	NM_144647.3	tolerated(0.37)		4/5		Gene3D:1.10.238.10,Pfam_domain:PF13499,hmmpanther:PTHR10891,hmmpanther:PTHR10891:SF551,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	35909933	35909933	C	A	1	0	0	0	0	1	0	0	0	2334	595	21	2		2	CAPSL	5	35909933	Missense_Mutation	SNP	C	C3N-00203_TP	3127035	35909933	145628326	159	12107											
NIPBL	0	.	GRCh38	chr5	36958124	36958124	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagttgaaagataaccttgGcagtgatgacccagaaggtg	14	8	13	6	0	0	6	0	3	0	3	0	6	0	6	2	2	1	2	2	2	3	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.251G>C	p.Gly84Ala	p.G84A	ENST00000282516	4/47	412	347	65	354	354	0	strelka-varscan-mutect	NIPBL,missense_variant,p.Gly84Ala,ENST00000282516,NM_133433.3;NIPBL,missense_variant,p.Gly84Ala,ENST00000448238,NM_015384.4;NIPBL,intron_variant,,ENST00000621733,;NIPBL,non_coding_transcript_exon_variant,,ENST00000505998,;NIPBL,upstream_gene_variant,,ENST00000504430,;	C	ENST00000282516	Transcript	missense_variant	750/10435	251/8415	84/2804	G/A	gGc/gCc		1		1	NIPBL	HGNC	HGNC:28862	protein_coding	YES	CCDS3920.1	ENSP00000282516	Q6KC79		UPI00003761B5	NM_133433.3	tolerated(0.18)		4/47		hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	36958124	36958124	G	C	1	0	0	0	0	1	0	0	0	10463	1203	42	4		4	NIPBL	5	36958124	Missense_Mutation	SNP	G	C3N-00203_TP	1048191	36958124	144580135	160	12108											
OSMR	0	.	GRCh38	chr5	38903985	38903985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaataatttcacatatttGtgtcagattgaactccatgg	13	14	8	6	0	2	2	2	1	0	1	3	3	3	3	1	2	1	0	1	2	4	5	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1095G>C	p.Leu365Phe	p.L365F	ENST00000274276	8/18	305	247	58	320	320	0	strelka-varscan-mutect	OSMR,missense_variant,p.Leu365Phe,ENST00000274276,NM_001323505.1,NM_001323506.1,NM_003999.2;OSMR,upstream_gene_variant,,ENST00000513831,;	C	ENST00000274276	Transcript	missense_variant	1497/5539	1095/2940	365/979	L/F	ttG/ttC		1		1	OSMR	HGNC	HGNC:8507	protein_coding	YES	CCDS3928.1	ENSP00000274276	Q99650		UPI000004CAC3	NM_001323505.1,NM_001323506.1,NM_003999.2	tolerated(0.05)		8/18		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF95,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	38903985	38903985	G	C	1	0	0	0	0	1	0	0	0	11359	1368	48	4		4	OSMR	5	38903985	Missense_Mutation	SNP	G	C3N-00203_TP	1945861	38903985	142634274	161	12109											
FYB	0	.	GRCh38	chr5	39134350	39134350	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttgttttaatatagccatCtaccaaaaagggaaatattt	16	14	6	5	0	1	0	0	0	1	0	1	1	1	1	2	1	2	2	2	1	8	8	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1706-1G>A		p.X569_splice	ENST00000512982		78	72	6	56	56	0	strelka-mutect	FYB,splice_acceptor_variant,,ENST00000351578,NM_199335.3;FYB,splice_acceptor_variant,,ENST00000505428,NM_001465.4;FYB,splice_acceptor_variant,,ENST00000512982,NM_001243093.1;FYB,splice_acceptor_variant,,ENST00000515010,;	T	ENST00000512982	Transcript	splice_acceptor_variant	-/2747	1706/2520	569/839				1		-1	FYB	HGNC	HGNC:4036	protein_coding	YES	CCDS58945.1	ENSP00000425845	O15117		UPI00017A75FB	NM_001243093.1				8/18																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	42	39134350	39134350	C	T	1	0	0	0	0	0	0	1	0	5995	927	32	3		3	FYB	5	39134350	Splice_Site	SNP	C	C3N-00203_TP	230365	39134350	142403909	162	12110											
HCN1	0	.	GRCh38	chr5	45262205	45262205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggaaatcagagtggacaCctcatggggcagcgagggct	10	7	15	9	1	3	1	2	0	1	1	3	4	3	3	1	5	1	2	1	5	1	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.2389G>A	p.Val797Met	p.V797M	ENST00000303230	8/8	246	210	36	204	204	0	strelka-varscan-mutect	HCN1,missense_variant,p.Val797Met,ENST00000303230,NM_021072.3;HCN1,non_coding_transcript_exon_variant,,ENST00000637305,;	T	ENST00000303230	Transcript	missense_variant	2630/9885	2389/2673	797/890	V/M	Gtg/Atg		1		-1	HCN1	HGNC	HGNC:4845	protein_coding	YES	CCDS3952.1	ENSP00000307342	O60741		UPI00001AED69	NM_021072.3	tolerated_low_confidence(0.08)		8/8		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	45262205	45262205	C	T	1	0	0	0	0	1	0	0	0	6883	507	18	3		3	HCN1	5	45262205	Missense_Mutation	SNP	C	C3N-00203_TP	6127855	45262205	136276054	163	12111											
SREK1	0	.	GRCh38	chr5	66170050	66170050	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaacaattttttttctttaGgagtagatcccataatagat	13	17	5	6	0	1	2	0	0	1	2	2	3	2	3	1	1	1	1	1	1	6	10	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1002-1G>T		p.X334_splice	ENST00000334121		122	115	7	105	105	0	varscan-mutect	SREK1,splice_acceptor_variant,,ENST00000334121,NM_001323527.1,NM_001323529.1,NM_001077199.2;SREK1,splice_acceptor_variant,,ENST00000380918,NM_001270492.1,NM_139168.3;SREK1,splice_acceptor_variant,,ENST00000284041,;SREK1,splice_acceptor_variant,,ENST00000524111,;SREK1,splice_acceptor_variant,,ENST00000520580,;SREK1,splice_acceptor_variant,,ENST00000520953,;SREK1,splice_acceptor_variant,,ENST00000522912,;SREK1,splice_acceptor_variant,,ENST00000523655,;SREK1,non_coding_transcript_exon_variant,,ENST00000519259,;SREK1,upstream_gene_variant,,ENST00000522214,;	T	ENST00000334121	Transcript	splice_acceptor_variant	-/6781	1002/1875	334/624				1		1	SREK1	HGNC	HGNC:17882	protein_coding	YES	CCDS43323.1	ENSP00000334538	Q8WXA9		UPI00000467F2	NM_001323527.1,NM_001323529.1,NM_001077199.2				7/11																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	42	66170050	66170050	G	T	1	0	0	0	0	0	0	1	0	15500	1014	35	2		2	SREK1	5	66170050	Splice_Site	SNP	G	C3N-00203_TP	20907845	66170050	115368209	164	12112											
HMGCR	0	.	GRCh38	chr5	75351078	75351078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatttagaatgatcagcAtggatattgaacaagttatt	14	17	7	3	0	1	3	1	2	0	1	1	4	1	4	0	1	2	2	0	1	7	8	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.952A>G	p.Met318Val	p.M318V	ENST00000287936	10/20	153	107	46	166	166	0	strelka-varscan-mutect	HMGCR,missense_variant,p.Met318Val,ENST00000287936,NM_000859.2;HMGCR,missense_variant,p.Met318Val,ENST00000343975,NM_001130996.1;HMGCR,missense_variant,p.Met318Val,ENST00000511206,;HMGCR,non_coding_transcript_exon_variant,,ENST00000504466,;HMGCR,upstream_gene_variant,,ENST00000515776,;HMGCR,upstream_gene_variant,,ENST00000508070,;	G	ENST00000287936	Transcript	missense_variant	1108/4585	952/2667	318/888	M/V	Atg/Gtg		1		1	HMGCR	HGNC	HGNC:5006	protein_coding	YES	CCDS4027.1	ENSP00000287936	P04035	A0A024RAP2	UPI000012C9E2	NM_000859.2	tolerated(0.71)		10/20		hmmpanther:PTHR10572,hmmpanther:PTHR10572:SF2,TIGRFAM_domain:TIGR00920																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	42	75351078	75351078	A	G	1	0	0	0	0	1	0	0	0	7123	217	8	5		5	HMGCR	5	75351078	Missense_Mutation	SNP	A	C3N-00203_TP	9181028	75351078	106187181	165	12113											
AC113404.1	0	.	GRCh38	chr5	76173666	76173666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgactttttgcgagccttcCcaggcactggagtttttctg	6	15	10	10	1	1	1	0	1	1	0	2	3	2	2	2	2	2	2	2	2	0	5	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.518G>A	p.Gly173Glu	p.G173E	ENST00000631802	1/2	368	284	84	395	395	0	strelka-varscan-mutect	AC113404.1,missense_variant,p.Gly173Glu,ENST00000631802,;AC113404.1,missense_variant,p.Gly154Glu,ENST00000506621,;SV2C,intron_variant,,ENST00000502798,NM_014979.3;SV2C,intron_variant,,ENST00000322285,NM_001297716.1;RP11-466P24.5,downstream_gene_variant,,ENST00000507884,;	T	ENST00000631802	Transcript	missense_variant	666/1917	518/555	173/184	G/E	gGg/gAg		1		-1	AC113404.1	Clone_based_ensembl_gene		protein_coding	YES		ENSP00000488821	A6NIZ1		UPI0000140E7F		tolerated(0.25)		1/2		PROSITE_profiles:PS51421,hmmpanther:PTHR24070																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	76173666	76173666	C	T	1	0	0	0	0	1	0	0	0	140	623	22	3		3	AC113404.1	5	76173666	Missense_Mutation	SNP	C	C3N-00203_TP	822588	76173666	105364593	166	12114											
POU5F2	0	.	GRCh38	chr5	93741481	93741481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggtcagagtgtcaaccCgcaggggcatcggccctctg	8	6	13	14	2	3	1	2	0	1	1	4	1	3	1	3	4	1	2	3	4	1	0	rs753162634		C3N-00203_TP	C3N-00203_NB	C	C																c.83G>T	p.Arg28Leu	p.R28L	ENST00000606183	1/1	118	77	41	106	105	1	strelka-varscan-mutect	POU5F2,missense_variant,p.Arg28Leu,ENST00000606183,NM_153216.1;FAM172A,intron_variant,,ENST00000395965,NM_032042.5;FAM172A,intron_variant,,ENST00000505869,NM_001163418.1;FAM172A,intron_variant,,ENST00000509163,NM_001163417.1;FAM172A,intron_variant,,ENST00000509739,;RP11-185E12.2,upstream_gene_variant,,ENST00000606528,;FAM172A,intron_variant,,ENST00000502503,;	A	ENST00000606183	Transcript	missense_variant	157/8418	83/987	28/328	R/L	cGg/cTg	rs753162634	1		-1	POU5F2	HGNC	HGNC:26367	protein_coding	YES	CCDS59489.1	ENSP00000489796	Q8N7G0		UPI0000135E4C	NM_153216.1	tolerated(0.06)		1/1		hmmpanther:PTHR11636:SF14,hmmpanther:PTHR11636																	MODERATE		SNV				1										PASS		rs753162634	.												A	3	1	42	93741481	93741481	C	A	1	0	0	0	0	1	0	0	0	12399	652	23	1		1	POU5F2	5	93741481	Missense_Mutation	SNP	C	C3N-00203_TP	17567815	93741481	87796778	167	12115											
PRR16	0	.	GRCh38	chr5	120686706	120686706	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcaaccactacaaccgtGtgatgtatgccattaaaaaa	17	9	6	9	1	1	1	1	1	0	0	1	1	1	1	3	0	4	1	3	0	8	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.912G>C	p.=	p.V304V	ENST00000407149	2/2	23	16	7	36	36	0	strelka-varscan-mutect	PRR16,synonymous_variant,p.=,ENST00000379551,NM_016644.2;PRR16,synonymous_variant,p.=,ENST00000407149,NM_001300783.1;PRR16,synonymous_variant,p.=,ENST00000505123,NM_001308087.1;PRR16,synonymous_variant,p.=,ENST00000446965,;PRR16,downstream_gene_variant,,ENST00000509923,;	C	ENST00000407149	Transcript	synonymous_variant	1121/1747	912/915	304/304	V	gtG/gtC		1		1	PRR16	HGNC	HGNC:29654	protein_coding	YES	CCDS75290.1	ENSP00000385118	Q569H4		UPI00004F9C36	NM_001300783.1			2/2		Pfam_domain:PF15252,hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	42	120686706	120686706	G	C	1	0	0	0	0	0	0	0	1	12725	1364	48	4		4	PRR16	5	120686706	Silent	SNP	G	C3N-00203_TP	26945225	120686706	60851553	168	12116											
TGFBI	0	.	GRCh38	chr5	136054775	136054775	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcggaaccacataattaaaGaccagctggcctctaagtat	14	10	7	10	1	1	1	0	0	1	1	2	2	1	2	3	2	2	2	3	2	6	5	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1324G>C	p.Asp442His	p.D442H	ENST00000442011	10/17	369	285	84	376	376	0	strelka-varscan-mutect	TGFBI,missense_variant,p.Asp442His,ENST00000442011,NM_000358.2;TGFBI,missense_variant,p.Asp160His,ENST00000514554,;TGFBI,missense_variant,p.Asp186His,ENST00000604555,;TGFBI,missense_variant,p.Asp181His,ENST00000508767,;TGFBI,upstream_gene_variant,,ENST00000508076,;TGFBI,upstream_gene_variant,,ENST00000503087,;TGFBI,3_prime_UTR_variant,,ENST00000507018,;TGFBI,3_prime_UTR_variant,,ENST00000509485,;TGFBI,non_coding_transcript_exon_variant,,ENST00000515433,;TGFBI,non_coding_transcript_exon_variant,,ENST00000506699,;TGFBI,upstream_gene_variant,,ENST00000513497,;TGFBI,upstream_gene_variant,,ENST00000514242,;TGFBI,downstream_gene_variant,,ENST00000509749,;	C	ENST00000442011	Transcript	missense_variant	1485/2804	1324/2052	442/683	D/H	Gac/Cac		1		1	TGFBI	HGNC	HGNC:11771	protein_coding	YES	CCDS47266.1	ENSP00000416330	Q15582	A0A0S2Z4Q2	UPI0000000C6A	NM_000358.2	tolerated(0.12)		10/17		Gene3D:2.30.180.10,Pfam_domain:PF02469,PIRSF_domain:PIRSF016553,PROSITE_profiles:PS50213,hmmpanther:PTHR10900,hmmpanther:PTHR10900:SF82,SMART_domains:SM00554,Superfamily_domains:SSF82153																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	136054775	136054775	G	C	1	0	0	0	0	1	0	0	0	16253	942	33	4		4	TGFBI	5	136054775	Missense_Mutation	SNP	G	C3N-00203_TP	15368069	136054775	45483484	169	12117											
PCDHA1	0	.	GRCh38	chr5	140787161	140787161	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtatttctcgtgacattcaaGaaaaattcaaagttgattcc	14	14	6	7	1	3	3	2	2	1	1	5	3	4	3	1	0	0	2	1	0	5	6			C3N-00203_TP	C3N-00203_NB	G	G																c.871G>C	p.Glu291Gln	p.E291Q	ENST00000504120	1/4	86	62	24	106	106	0	strelka-varscan-mutect	PCDHA1,missense_variant,p.Glu291Gln,ENST00000504120,NM_018900.3;PCDHA1,missense_variant,p.Glu291Gln,ENST00000378133,NM_031410.2;PCDHA1,missense_variant,p.Glu291Gln,ENST00000394633,NM_031411.2;AC005609.16,downstream_gene_variant,,ENST00000624712,;AC005609.16,downstream_gene_variant,,ENST00000624176,;	C	ENST00000504120	Transcript	missense_variant	871/5263	871/2853	291/950	E/Q	Gaa/Caa	COSM1219535,COSM1219536	1		1	PCDHA1	HGNC	HGNC:8663	protein_coding	YES	CCDS54913.1	ENSP00000420840	Q9Y5I3		UPI00001273C7	NM_018900.3	tolerated_low_confidence(0.33)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	42	140787161	140787161	G	C	1	0	0	0	0	1	0	0	0	11606	943	33	4		4	PCDHA1	5	140787161	Missense_Mutation	SNP	G	C3N-00203_TP	4732386	140787161	40751098	170	12118											
CAMK2A	0	.	GRCh38	chr5	150251995	150251995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactcaccacaagcccacagGtccacaggcttcccgtacgg	11	5	8	17	2	1	0	1	0	0	0	3	0	3	0	4	3	3	2	4	3	3	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.585C>A	p.Asp195Glu	p.D195E	ENST00000398376	8/19	163	111	52	158	157	1	strelka-varscan-mutect	CAMK2A,missense_variant,p.Asp195Glu,ENST00000348628,NM_171825.2;CAMK2A,missense_variant,p.Asp195Glu,ENST00000398376,NM_015981.3;CAMK2A,downstream_gene_variant,,ENST00000515758,;CAMK2A,non_coding_transcript_exon_variant,,ENST00000508662,;	T	ENST00000398376	Transcript	missense_variant	589/1493	585/1470	195/489	D/E	gaC/gaA		1		-1	CAMK2A	HGNC	HGNC:1460	protein_coding	YES	CCDS43387.1	ENSP00000381412	Q9UQM7	A8K161	UPI0000161115	NM_015981.3	deleterious_low_confidence(0)		8/19		PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF226,hmmpanther:PTHR24347,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	150251995	150251995	G	T	1	0	0	0	0	1	0	0	0	2290	1252	44	2		2	CAMK2A	5	150251995	Missense_Mutation	SNP	G	C3N-00203_TP	9464834	150251995	31286264	171	12119											
ADAM19	0	.	GRCh38	chr5	157488436	157488436	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacgcagataatctggaggGggccggggaggaggctggga	9	4	20	8	2	1	1	0	0	1	1	1	5	1	5	2	8	0	2	2	8	1	1			C3N-00203_TP	C3N-00203_NB	G	G																c.2379C>A	p.=	p.P793P	ENST00000257527	21/23	76	60	16	92	92	0	strelka-varscan-mutect	ADAM19,synonymous_variant,p.=,ENST00000257527,NM_033274.4;ADAM19,synonymous_variant,p.=,ENST00000517905,;ADAM19,synonymous_variant,p.=,ENST00000517374,;ADAM19,3_prime_UTR_variant,,ENST00000517951,;	T	ENST00000257527	Transcript	synonymous_variant	2458/6481	2379/2757	793/918	P	ccC/ccA	COSM1143739,COSM5269846,COSM5269847,COSM591069	1		-1	ADAM19	HGNC	HGNC:197	protein_coding	YES	CCDS4338.1	ENSP00000257527	Q9H013		UPI000013CF6A	NM_033274.4			21/23		Low_complexity_(Seg):seg,hmmpanther:PTHR11905:SF19,hmmpanther:PTHR11905											1,1,1,1						LOW	1	SNV	1		1,1,1,1	1										PASS		.	.												T	2	4	42	157488436	157488436	G	T	1	0	0	0	0	0	0	0	1	284	1219	43	2		2	ADAM19	5	157488436	Silent	SNP	G	C3N-00203_TP	7236441	157488436	24049823	172	12120											
GABRA1	0	.	GRCh38	chr5	161854232	161854232	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggattttggacagactccTagatggttatgacaatcgcc	11	11	10	9	1	0	3	0	1	0	2	2	5	1	5	2	3	0	1	2	3	3	4	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.149T>A	p.Leu50Gln	p.L50Q	ENST00000393943	3/10	240	189	51	306	306	0	strelka-varscan-mutect	GABRA1,missense_variant,p.Leu50Gln,ENST00000393943,NM_001127644.1,NM_001127648.1;GABRA1,missense_variant,p.Leu50Gln,ENST00000428797,NM_001127643.1;GABRA1,missense_variant,p.Leu65Gln,ENST00000638159,;GABRA1,missense_variant,p.Leu50Gln,ENST00000437025,NM_001127645.1;GABRA1,missense_variant,p.Leu50Gln,ENST00000638112,;GABRA1,missense_variant,p.Leu50Gln,ENST00000636573,;GABRA1,missense_variant,p.Leu50Gln,ENST00000023897,NM_000806.5;GABRA1,missense_variant,p.Leu50Gln,ENST00000637827,;GABRA1,missense_variant,p.Leu50Gln,ENST00000635880,;GABRA1,missense_variant,p.Leu50Gln,ENST00000634335,;GABRA1,missense_variant,p.Leu71Gln,ENST00000522651,;GABRA1,missense_variant,p.Leu50Gln,ENST00000519621,;GABRA1,missense_variant,p.Leu50Gln,ENST00000521339,;GABRA1,downstream_gene_variant,,ENST00000635096,;GABRA1,downstream_gene_variant,,ENST00000637620,;GABRA1,stop_lost,p.Ter71LysextTer7,ENST00000636340,;GABRA1,missense_variant,p.Leu50Gln,ENST00000637044,;	A	ENST00000393943	Transcript	missense_variant	932/4686	149/1371	50/456	L/Q	cTa/cAa		1		1	GABRA1	HGNC	HGNC:4075	protein_coding	YES	CCDS4357.1	ENSP00000377517	P14867		UPI000012AF95	NM_001127644.1,NM_001127648.1	deleterious(0)		3/10		Superfamily_domains:0038932,Pfam_domain:PF02931,Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF514,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	161854232	161854232	T	A	1	0	0	0	0	1	0	0	0	6031	1522	53	4		4	GABRA1	5	161854232	Missense_Mutation	SNP	T	C3N-00203_TP	4365796	161854232	19684027	173	12121											
ADAMTS2	0	.	GRCh38	chr5	179137784	179137784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccatcccggtgctcgtGgggcagccagtggtgctggg	4	8	16	13	2	1	0	1	0	0	0	3	0	2	0	3	5	3	3	3	5	0	0	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1936C>T	p.His646Tyr	p.H646Y	ENST00000251582	12/22	273	228	45	166	166	0	strelka-varscan-mutect	ADAMTS2,missense_variant,p.His646Tyr,ENST00000251582,NM_014244.4;	A	ENST00000251582	Transcript	missense_variant	2038/6754	1936/3636	646/1211	H/Y	Cac/Tac		1		-1	ADAMTS2	HGNC	HGNC:218	protein_coding	YES	CCDS4444.1	ENSP00000251582	O95450		UPI00001AE729	NM_014244.4	tolerated(1)		12/22		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	179137784	179137784	G	A	1	0	0	0	0	1	0	0	0	309	1348	47	3		3	ADAMTS2	5	179137784	Missense_Mutation	SNP	G	C3N-00203_TP	17283552	179137784	2400475	174	12122											
DUSP22	0	.	GRCh38	chr6	348218	348218	+	Missense_Mutation	SNP	C	C	T																															ctgggagatcctgtgccaacCccaacgtgggcttccagaga																								novel		C3N-00203_TP	C3N-00203_NB	C	C																c.379C>T	p.Pro127Ser	p.P127S	ENST00000419235	6/7	490	456	34	338	338	0	strelka-varscan-mutect	DUSP22,missense_variant,p.Pro24Ser,ENST00000604971,;DUSP22,missense_variant,p.Pro127Ser,ENST00000419235,NM_001286555.1;DUSP22,missense_variant,p.Pro127Ser,ENST00000344450,NM_020185.4;DUSP22,missense_variant,p.Pro24Ser,ENST00000605035,;DUSP22,missense_variant,p.Pro24Ser,ENST00000605315,;DUSP22,missense_variant,p.Pro24Ser,ENST00000603453,;DUSP22,missense_variant,p.Pro24Ser,ENST00000605863,;DUSP22,synonymous_variant,p.=,ENST00000603881,;DUSP22,downstream_gene_variant,,ENST00000603296,;DUSP22,non_coding_transcript_exon_variant,,ENST00000604914,;DUSP22,non_coding_transcript_exon_variant,,ENST00000604988,;DUSP22,non_coding_transcript_exon_variant,,ENST00000603005,;DUSP22,downstream_gene_variant,,ENST00000603290,;DUSP22,downstream_gene_variant,,ENST00000605391,;DUSP22,3_prime_UTR_variant,,ENST00000603795,;DUSP22,3_prime_UTR_variant,,ENST00000603726,;	T	ENST00000419235	Transcript	missense_variant	457/3098	379/618	127/205	P/S	Ccc/Tcc		1		1	DUSP22	HGNC	HGNC:16077	protein_coding	YES	CCDS69035.1	ENSP00000397459	Q9NRW4		UPI000020E3B7	NM_001286555.1	deleterious(0)		6/7		Gene3D:3.90.190.10,Pfam_domain:PF00782,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF29,SMART_domains:SM00195,Superfamily_domains:SSF52799																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	42	348218	348218	C	T	1	0	0	0	0	1	0	0	0	4643	623	22	3		3	DUSP22	6	348218	Missense_Mutation	SNP	C	C3N-00203_TP		348218	170457761	175	12123	275	2									
DUSP22	0	.	GRCh38	chr6	348219	348219	+	Missense_Mutation	SNP	C	C	T																															tgggagatcctgtgccaaccCcaacgtgggcttccagagac																								novel		C3N-00203_TP	C3N-00203_NB	C	C																c.380C>T	p.Pro127Leu	p.P127L	ENST00000419235	6/7	484	448	36	333	333	0	strelka-varscan-mutect	DUSP22,missense_variant,p.Pro24Leu,ENST00000604971,;DUSP22,missense_variant,p.Pro127Leu,ENST00000419235,NM_001286555.1;DUSP22,missense_variant,p.Pro127Leu,ENST00000344450,NM_020185.4;DUSP22,missense_variant,p.Pro24Leu,ENST00000605035,;DUSP22,missense_variant,p.Pro24Leu,ENST00000605315,;DUSP22,missense_variant,p.Pro24Leu,ENST00000603453,;DUSP22,missense_variant,p.Pro24Leu,ENST00000605863,;DUSP22,missense_variant,p.Pro15Ser,ENST00000603881,;DUSP22,downstream_gene_variant,,ENST00000603296,;DUSP22,non_coding_transcript_exon_variant,,ENST00000604914,;DUSP22,non_coding_transcript_exon_variant,,ENST00000604988,;DUSP22,non_coding_transcript_exon_variant,,ENST00000603005,;DUSP22,downstream_gene_variant,,ENST00000603290,;DUSP22,downstream_gene_variant,,ENST00000605391,;DUSP22,3_prime_UTR_variant,,ENST00000603795,;DUSP22,3_prime_UTR_variant,,ENST00000603726,;	T	ENST00000419235	Transcript	missense_variant	458/3098	380/618	127/205	P/L	cCc/cTc		1		1	DUSP22	HGNC	HGNC:16077	protein_coding	YES	CCDS69035.1	ENSP00000397459	Q9NRW4		UPI000020E3B7	NM_001286555.1	deleterious(0)		6/7		Gene3D:3.90.190.10,Pfam_domain:PF00782,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF29,SMART_domains:SM00195,Superfamily_domains:SSF52799																	MODERATE	1	SNV	2			1										PASS		rs1344532407	.												T	3	4	42	348219	348219	C	T	1	0	0	0	0	1	0	0	0	4643	623	22	3		3	DUSP22	6	348219	Missense_Mutation	SNP	C	C3N-00203_TP	1	348219	170457760	176	12124	275	2									
BMP6	0	.	GRCh38	chr6	7862409	7862409	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtgaggtgcacgtgcgcaCcaccaggtcagcctccagcc	8	5	13	15	2	1	1	1	1	0	0	2	2	2	1	5	2	4	2	5	2	0	0	rs778340100		C3N-00203_TP	C3N-00203_NB	C	C																c.1115C>A	p.Thr372Asn	p.T372N	ENST00000283147	4/7	722	452	270	415	415	0	strelka-varscan-mutect	BMP6,missense_variant,p.Thr372Asn,ENST00000283147,NM_001718.4;	A	ENST00000283147	Transcript	missense_variant	1274/2780	1115/1542	372/513	T/N	aCc/aAc	rs778340100	1		1	BMP6	HGNC	HGNC:1073	protein_coding	YES	CCDS4503.1	ENSP00000283147	P22004		UPI0000126A2D	NM_001718.4	tolerated(0.05)		4/7		Low_complexity_(Seg):seg,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF137																	MODERATE	1	SNV	1			1										PASS		rs778340100	.												A	3	1	42	7862409	7862409	C	A	1	0	0	0	0	1	0	0	0	1619	507	18	2		2	BMP6	6	7862409	Missense_Mutation	SNP	C	C3N-00203_TP	7514190	7862409	162943570	177	12125											
HIST1H2AA	0	.	GRCh38	chr6	25726431	25726431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttcccttacgaagcagacGatggatccggcctacgggaa	10	8	12	11	4	0	1	0	0	0	1	2	5	2	3	3	3	3	2	3	3	4	3			C3N-00203_TP	C3N-00203_NB	G	G																c.97C>T	p.Arg33Cys	p.R33C	ENST00000297012	1/1	236	195	41	182	182	0	strelka-varscan	HIST1H2AA,missense_variant,p.Arg33Cys,ENST00000297012,NM_170745.3;HIST1H2BA,upstream_gene_variant,,ENST00000274764,NM_170610.2;	A	ENST00000297012	Transcript	missense_variant	97/396	97/396	33/131	R/C	Cgt/Tgt	COSM5404923	1		-1	HIST1H2AA	HGNC	HGNC:18729	protein_coding	YES	CCDS4562.1	ENSP00000297012	Q96QV6		UPI0000073CDD	NM_170745.3	deleterious_low_confidence(0.03)		1/1		Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00620,hmmpanther:PTHR23430,SMART_domains:SM00414,Superfamily_domains:SSF47113											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	42	25726431	25726431	G	A	1	0	0	0	0	1	0	0	0	7016	1058	37	1		1	HIST1H2AA	6	25726431	Missense_Mutation	SNP	G	C3N-00203_TP	17864022	25726431	145079548	178	12126											
ZNF311	0	.	GRCh38	chr6	28995907	28995907	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcttaaactggaaggccttCccacagcagttacatttgta	11	12	8	10	0	0	0	0	0	0	0	1	1	1	1	2	2	4	4	2	2	5	5	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1095G>T	p.=	p.G365G	ENST00000377179	7/7	274	211	63	289	289	0	strelka-varscan	ZNF311,synonymous_variant,p.=,ENST00000377179,NM_001010877.2;ZNF311,non_coding_transcript_exon_variant,,ENST00000483450,;	A	ENST00000377179	Transcript	synonymous_variant	1608/2730	1095/2001	365/666	G	ggG/ggT		1		-1	ZNF311	HGNC	HGNC:13847	protein_coding	YES	CCDS34357.1	ENSP00000366384	Q5JNZ3		UPI000020D71E	NM_001010877.2			7/7		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF273,SMART_domains:SM00355																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	42	28995907	28995907	C	A	1	0	0	0	0	0	0	0	1	18409	842	30	2		2	ZNF311	6	28995907	Silent	SNP	C	C3N-00203_TP	3269476	28995907	141810072	179	12127											
OR2W1	0	.	GRCh38	chr6	29044864	29044864	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaactgagcccaaccacatGtaaacatagagttggatgat	15	9	8	9	0	1	3	1	2	0	1	1	4	1	4	2	1	4	2	2	1	5	3			C3N-00203_TP	C3N-00203_NB	G	G																c.312C>G	p.Tyr104Ter	p.Y104*	ENST00000377175	1/1	224	178	46	216	216	0	strelka-varscan	OR2W1,stop_gained,p.Tyr104Ter,ENST00000377175,NM_030903.3;XXbac-BPG258E24.10,intron_variant,,ENST00000623334,;XXbac-BPG258E24.10,intron_variant,,ENST00000623946,;	C	ENST00000377175	Transcript	stop_gained	377/1028	312/963	104/320	Y/*	taC/taG	COSM3623893	1		-1	OR2W1	HGNC	HGNC:8281	protein_coding	YES	CCDS4656.1	ENSP00000366380	Q9Y3N9	A0A126GVA1	UPI000003FF8A	NM_030903.3			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF169,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						HIGH		SNV			1	1										PASS		.	.												C	4	2	42	29044864	29044864	G	C	1	0	0	0	0	0	1	0	0	11110	1372	48	4		4	OR2W1	6	29044864	Nonsense_Mutation	SNP	G	C3N-00203_TP	48957	29044864	141761115	180	12128											
UHRF1BP1	0	.	GRCh38	chr6	34857437	34857437	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattcatattgagttcacaGagtattacttcccagataat	13	14	5	9	0	2	3	2	1	0	2	3	3	3	3	2	0	1	2	2	0	4	8	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1540G>T	p.Glu514Ter	p.E514*	ENST00000192788	12/21	275	213	62	177	176	1	strelka-varscan-mutect	UHRF1BP1,stop_gained,p.Glu514Ter,ENST00000192788,NM_017754.3;UHRF1BP1,stop_gained,p.Glu514Ter,ENST00000452449,;	T	ENST00000192788	Transcript	stop_gained	1711/9570	1540/4323	514/1440	E/*	Gag/Tag		1		1	UHRF1BP1	HGNC	HGNC:21216	protein_coding	YES	CCDS43455.1	ENSP00000192788	Q6BDS2		UPI00001B654C	NM_017754.3			12/21		hmmpanther:PTHR22774,hmmpanther:PTHR22774:SF15																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	42	34857437	34857437	G	T	1	0	0	0	0	0	1	0	0	17492	943	33	2		2	UHRF1BP1	6	34857437	Nonsense_Mutation	SNP	G	C3N-00203_TP	5812573	34857437	135948542	181	12129											
CLPS	0	.	GRCh38	chr6	35797253	35797253	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagctgcataggccacagaGagggcgacaagcaggaggat	13	3	17	8	1	0	1	0	0	0	1	0	6	0	4	1	5	3	3	1	5	2	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.36C>G	p.=	p.L12L	ENST00000259938	1/3	253	232	21	191	191	0	strelka-varscan-mutect	CLPS,synonymous_variant,p.=,ENST00000259938,NM_001832.3;CLPS,synonymous_variant,p.=,ENST00000616014,NM_001252598.1;CLPS,upstream_gene_variant,,ENST00000622413,NM_001252597.1;CLPSL1,downstream_gene_variant,,ENST00000428710,;	C	ENST00000259938	Transcript	synonymous_variant	59/526	36/339	12/112	L	ctC/ctG		1		-1	CLPS	HGNC	HGNC:2085	protein_coding	YES	CCDS4811.1	ENSP00000259938	P04118		UPI0000127E78	NM_001832.3			1/3		hmmpanther:PTHR10041,hmmpanther:PTHR10041:SF8,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	42	35797253	35797253	G	C	1	0	0	0	0	0	0	0	1	3323	929	33	4		4	CLPS	6	35797253	Silent	SNP	G	C3N-00203_TP	939816	35797253	135008726	182	12130											
CPNE5	0	.	GRCh38	chr6	36794616	36794616	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacagctggcatgggtttGcccgtcctggaattcaggct	7	10	13	11	1	1	0	1	0	0	0	2	2	2	1	2	4	2	4	2	4	1	2			C3N-00203_TP	C3N-00203_NB	G	G																c.438C>A	p.=	p.G146G	ENST00000244751	7/21	357	285	72	251	251	0	strelka-varscan-mutect	CPNE5,synonymous_variant,p.=,ENST00000244751,NM_020939.1;CPNE5,synonymous_variant,p.=,ENST00000633136,;CPNE5,synonymous_variant,p.=,ENST00000633280,;	T	ENST00000244751	Transcript	synonymous_variant	1063/3897	438/1782	146/593	G	ggC/ggA	COSM4674392	1		-1	CPNE5	HGNC	HGNC:2318	protein_coding	YES	CCDS4825.1	ENSP00000244751	Q9HCH3		UPI0000127C15	NM_020939.1			7/21													1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	42	36794616	36794616	G	T	1	0	0	0	0	0	0	0	1	3610	1306	46	2		2	CPNE5	6	36794616	Silent	SNP	G	C3N-00203_TP	997363	36794616	134011363	183	12131											
DAAM2	0	.	GRCh38	chr6	39865016	39865016	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgtttgatgaggaggagacgGagatgaggaaccaagtcgtg	12	7	17	5	3	0	5	0	3	0	2	1	9	0	7	1	4	1	1	1	4	2	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.370G>C	p.Glu124Gln	p.E124Q	ENST00000398904	5/25	336	293	43	194	193	1	strelka-varscan-mutect	DAAM2,missense_variant,p.Glu124Gln,ENST00000538976,NM_015345.3;DAAM2,missense_variant,p.Glu124Gln,ENST00000398904,;DAAM2,missense_variant,p.Glu124Gln,ENST00000274867,NM_001201427.1;DAAM2,missense_variant,p.Glu124Gln,ENST00000633794,;DAAM2,downstream_gene_variant,,ENST00000405961,;DAAM2,3_prime_UTR_variant,,ENST00000494405,;DAAM2,non_coding_transcript_exon_variant,,ENST00000491083,;DAAM2,downstream_gene_variant,,ENST00000475489,;DAAM2,upstream_gene_variant,,ENST00000632657,;	C	ENST00000398904	Transcript	missense_variant	552/6224	370/3207	124/1068	E/Q	Gag/Cag		1		1	DAAM2	HGNC	HGNC:18143	protein_coding	YES	CCDS56426.1	ENSP00000381876	Q86T65		UPI000020DC88		tolerated(0.14)		5/25		PROSITE_profiles:PS51232,Gene3D:1.25.10.10,Pfam_domain:PF06371,SMART_domains:SM01140,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	42	39865016	39865016	G	C	1	0	0	0	0	1	0	0	0	4017	1175	41	4		4	DAAM2	6	39865016	Missense_Mutation	SNP	G	C3N-00203_TP	3070400	39865016	130940963	184	12132											
PTK7	0	.	GRCh38	chr6	43143524	43143524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcctacatcattgccGtgctgggcctcatgttctac	5	13	10	13	1	3	0	2	0	1	0	3	0	3	0	3	2	4	2	3	2	2	4	rs534728368		C3N-00203_TP	C3N-00203_NB	G	G																c.2179G>T	p.Val727Leu	p.V727L	ENST00000481273	14/20	497	403	94	276	276	0	strelka-varscan-mutect	PTK7,missense_variant,p.Val719Leu,ENST00000230419,NM_002821.4;PTK7,missense_variant,p.Val679Leu,ENST00000345201,NM_152880.3;PTK7,missense_variant,p.Val663Leu,ENST00000352931,NM_152882.3;PTK7,missense_variant,p.Val589Leu,ENST00000349241,NM_152881.3;PTK7,missense_variant,p.Val727Leu,ENST00000481273,NM_001270398.1;PTK7,intron_variant,,ENST00000489707,;PTK7,upstream_gene_variant,,ENST00000473339,;PTK7,downstream_gene_variant,,ENST00000481946,;PTK7,missense_variant,p.Val719Leu,ENST00000230418,;PTK7,3_prime_UTR_variant,,ENST00000470019,;PTK7,3_prime_UTR_variant,,ENST00000497957,;PTK7,3_prime_UTR_variant,,ENST00000494146,;PTK7,3_prime_UTR_variant,,ENST00000461100,;PTK7,non_coding_transcript_exon_variant,,ENST00000487673,;PTK7,non_coding_transcript_exon_variant,,ENST00000493339,;PTK7,upstream_gene_variant,,ENST00000461389,;PTK7,downstream_gene_variant,,ENST00000470471,;	T	ENST00000481273	Transcript	missense_variant	2249/3436	2179/3237	727/1078	V/L	Gtg/Ttg	rs534728368	1		1	PTK7	HGNC	HGNC:9618	protein_coding	YES	CCDS59021.1	ENSP00000418754	Q13308		UPI0001B79423	NM_001270398.1	deleterious(0.01)		14/20		Transmembrane_helices:TMhelix,hmmpanther:PTHR26391,hmmpanther:PTHR26391:SF15,Gene3D:3.30.200.20																	MODERATE	1	SNV	2			1										PASS		rs534728368	.												T	3	4	42	43143524	43143524	G	T	1	0	0	0	0	1	0	0	0	12921	1145	40	1		1	PTK7	6	43143524	Missense_Mutation	SNP	G	C3N-00203_TP	3278508	43143524	127662455	185	12133											
CRISP2	0	.	GRCh38	chr6	49698458	49698458	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctttggattgcagaagaCcaggaagtagggtcacttga	12	9	13	7	0	1	3	1	1	0	2	1	5	1	5	1	3	2	3	1	3	3	4	rs762980390		C3N-00203_TP	C3N-00203_NB	C	C																c.321G>C	p.Trp107Cys	p.W107C	ENST00000339139	7/10	185	145	40	177	177	0	strelka-varscan-mutect	CRISP2,missense_variant,p.Trp107Cys,ENST00000618917,;CRISP2,missense_variant,p.Trp107Cys,ENST00000339139,NM_001142417.2,NM_001142408.2,NM_003296.3;CRISP2,missense_variant,p.Trp107Cys,ENST00000616725,NM_001142407.2,NM_001261822.1,NM_001142435.2;	G	ENST00000339139	Transcript	missense_variant	558/1382	321/732	107/243	W/C	tgG/tgC	rs762980390	1		-1	CRISP2	HGNC	HGNC:12024	protein_coding	YES	CCDS4928.1	ENSP00000339155	P16562	A0A024RD74	UPI000013728C	NM_001142417.2,NM_001142408.2,NM_003296.3	deleterious(0)		7/10		hmmpanther:PTHR10334:SF228,hmmpanther:PTHR10334,Gene3D:3.40.33.10,Pfam_domain:PF00188,SMART_domains:SM00198,Superfamily_domains:SSF55797																	MODERATE	1	SNV	1			1										PASS		rs762980390	.												G	3	3	42	49698458	49698458	C	G	1	0	0	0	0	1	0	0	0	3681	508	18	4		4	CRISP2	6	49698458	Missense_Mutation	SNP	C	C3N-00203_TP	6554934	49698458	121107521	186	12134											
TFAP2D	0	.	GRCh38	chr6	50715405	50715405	+	Missense_Mutation	SNP	C	C	A																															gcagatccaccacggggagcCcaccgactttattaacctgc																								novel		C3N-00203_TP	C3N-00203_NB	C	C																c.329C>A	p.Pro110His	p.P110H	ENST00000008391	2/8	447	380	67	353	353	0	strelka-varscan-mutect	TFAP2D,missense_variant,p.Pro110His,ENST00000008391,NM_172238.3;TFAP2D,upstream_gene_variant,,ENST00000492804,;	A	ENST00000008391	Transcript	missense_variant	557/1711	329/1359	110/452	P/H	cCc/cAc		1		1	TFAP2D	HGNC	HGNC:15581	protein_coding	YES	CCDS4933.1	ENSP00000008391	Q7Z6R9		UPI00001A3A89	NM_172238.3	deleterious(0)		2/8		hmmpanther:PTHR10812:SF5,hmmpanther:PTHR10812																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	50715405	50715405	C	A	1	0	0	0	0	1	0	0	0	16223	623	22	2		2	TFAP2D	6	50715405	Missense_Mutation	SNP	C	C3N-00203_TP	1016947	50715405	120090574	187	12135	276	2									
TFAP2D	0	.	GRCh38	chr6	50715406	50715406	+	Silent	SNP	C	C	A																															cagatccaccacggggagccCaccgactttattaacctgca																								novel		C3N-00203_TP	C3N-00203_NB	C	C																c.330C>A	p.=	p.P110P	ENST00000008391	2/8	448	384	64	347	347	0	strelka-varscan-mutect	TFAP2D,synonymous_variant,p.=,ENST00000008391,NM_172238.3;TFAP2D,upstream_gene_variant,,ENST00000492804,;	A	ENST00000008391	Transcript	synonymous_variant	558/1711	330/1359	110/452	P	ccC/ccA		1		1	TFAP2D	HGNC	HGNC:15581	protein_coding	YES	CCDS4933.1	ENSP00000008391	Q7Z6R9		UPI00001A3A89	NM_172238.3			2/8		hmmpanther:PTHR10812:SF5,hmmpanther:PTHR10812																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	50715406	50715406	C	A	1	0	0	0	0	0	0	0	1	16223	581	21	2		2	TFAP2D	6	50715406	Silent	SNP	C	C3N-00203_TP	1	50715406	120090573	188	12136	276	2									
KLHL31	0	.	GRCh38	chr6	53651817	53651817	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtaggcgcggccatgcagCgccgagacgcccgcagtgct	7	4	16	14	6	0	1	0	0	0	1	0	2	0	1	3	3	3	4	3	3	1	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1686G>T	p.=	p.A562A	ENST00000370905	3/3	548	358	190	323	322	1	strelka-varscan-mutect	KLHL31,synonymous_variant,p.=,ENST00000370905,NM_001003760.4;KLHL31,synonymous_variant,p.=,ENST00000407079,;	A	ENST00000370905	Transcript	synonymous_variant	1827/5743	1686/1905	562/634	A	gcG/gcT		1		-1	KLHL31	HGNC	HGNC:21353	protein_coding	YES	CCDS34478.1	ENSP00000359942	Q9H511		UPI000006D624	NM_001003760.4			3/3		hmmpanther:PTHR24412:SF247,hmmpanther:PTHR24412,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,Gene3D:1k3iA02,SMART_domains:SM00612,Superfamily_domains:0052715																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	53651817	53651817	C	A	1	0	0	0	0	0	0	0	1	8250	755	27	1		1	KLHL31	6	53651817	Silent	SNP	C	C3N-00203_TP	2936411	53651817	117154162	189	12137											
RIMS1	0	.	GRCh38	chr6	72400641	72400641	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactggtggatcccacacTcactcccctcacccggcggg	6	7	9	19	2	3	0	3	0	0	0	5	1	5	1	4	4	0	0	4	4	0	0	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.5006T>A	p.Leu1669His	p.L1669H	ENST00000521978	34/34	159	103	56	196	195	1	strelka-varscan	RIMS1,missense_variant,p.Leu1518His,ENST00000264839,;RIMS1,missense_variant,p.Leu1669His,ENST00000521978,NM_014989.5;RIMS1,missense_variant,p.Leu1458His,ENST00000491071,;RIMS1,missense_variant,p.Leu1319His,ENST00000520567,;RIMS1,missense_variant,p.Leu1452His,ENST00000517960,;RIMS1,missense_variant,p.Leu1348His,ENST00000518273,;RIMS1,missense_variant,p.Leu1268His,ENST00000522291,;RIMS1,missense_variant,p.Leu989His,ENST00000401910,NM_001168407.1;RIMS1,missense_variant,p.Leu1015His,ENST00000517433,;RIMS1,missense_variant,p.Leu794His,ENST00000523963,NM_001168408.1;RIMS1,missense_variant,p.Leu803His,ENST00000517827,NM_001168410.1;RIMS1,missense_variant,p.Leu737His,ENST00000425662,NM_001168409.1;RIMS1,missense_variant,p.Leu587His,ENST00000522211,;RIMS1,missense_variant,p.Leu717His,ENST00000370420,;RIMS1,missense_variant,p.Leu196His,ENST00000414192,NM_001168411.1;RIMS1,downstream_gene_variant,,ENST00000453976,;RIMS1,non_coding_transcript_exon_variant,,ENST00000431478,;RIMS1,non_coding_transcript_exon_variant,,ENST00000463023,;	A	ENST00000521978	Transcript	missense_variant	5006/5079	5006/5079	1669/1692	L/H	cTc/cAc		1		1	RIMS1	HGNC	HGNC:17282	protein_coding	YES	CCDS47449.1	ENSP00000428417	Q86UR5		UPI00001908FB	NM_014989.5	deleterious(0)		34/34		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	72400641	72400641	T	A	1	0	0	0	0	1	0	0	0	13542	1551	54	4		4	RIMS1	6	72400641	Missense_Mutation	SNP	T	C3N-00203_TP	18748824	72400641	98405338	190	12138											
MYO6	0	.	GRCh38	chr6	75891292	75891292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagaaaagggaagatgatGaaaaacgcattcaagtatgt	20	7	11	3	1	1	4	1	2	0	2	1	6	1	5	0	1	1	2	0	1	8	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.2932G>A	p.Glu978Lys	p.E978K	ENST00000369977	27/35	318	253	65	292	292	0	strelka-varscan	MYO6,missense_variant,p.Glu978Lys,ENST00000369981,;MYO6,missense_variant,p.Glu978Lys,ENST00000369985,NM_001300899.1;MYO6,missense_variant,p.Glu978Lys,ENST00000369977,NM_004999.3;MYO6,missense_variant,p.Glu978Lys,ENST00000369975,;MYO6,missense_variant,p.Glu978Lys,ENST00000627432,;MYO6,missense_variant,p.Glu978Lys,ENST00000615563,;MYO6,missense_variant,p.Glu41Lys,ENST00000430435,;	A	ENST00000369977	Transcript	missense_variant	3071/5597	2932/3858	978/1285	E/K	Gaa/Aaa		1		1	MYO6	HGNC	HGNC:7605	protein_coding	YES	CCDS34487.1	ENSP00000358994	Q9UM54		UPI00000727CF	NM_004999.3	tolerated(0.25)		27/35		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF483																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	75891292	75891292	G	A	1	0	0	0	0	1	0	0	0	10082	1291	45	3		3	MYO6	6	75891292	Missense_Mutation	SNP	G	C3N-00203_TP	3490651	75891292	94914687	191	12139											
SNAP91	0	.	GRCh38	chr6	83605698	83605698	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactcacctccccatgcagtGgctcctccagcaggtggtgg	6	9	11	15	0	1	0	1	0	0	0	4	0	4	0	5	4	3	3	5	4	1	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1128C>A	p.=	p.A376A	ENST00000439399	14/30	246	177	69	242	241	1	strelka-varscan	SNAP91,synonymous_variant,p.=,ENST00000521485,;SNAP91,synonymous_variant,p.=,ENST00000439399,NM_014841.2;SNAP91,synonymous_variant,p.=,ENST00000369694,NM_001242792.1;SNAP91,synonymous_variant,p.=,ENST00000195649,NM_001256718.1;SNAP91,synonymous_variant,p.=,ENST00000521743,;SNAP91,synonymous_variant,p.=,ENST00000520302,NM_001256717.1,NM_001242793.1;SNAP91,synonymous_variant,p.=,ENST00000520213,NM_001242794.1;SNAP91,synonymous_variant,p.=,ENST00000521931,;SNAP91,synonymous_variant,p.=,ENST00000369691,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;	T	ENST00000439399	Transcript	synonymous_variant	1445/4452	1128/2724	376/907	A	gcC/gcA		1		-1	SNAP91	HGNC	HGNC:14986	protein_coding	YES	CCDS47455.1	ENSP00000400459	O60641		UPI0000124FB3	NM_014841.2			14/30		Low_complexity_(Seg):seg,hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	42	83605698	83605698	G	T	1	0	0	0	0	0	0	0	1	15154	1335	47	2		2	SNAP91	6	83605698	Silent	SNP	G	C3N-00203_TP	7714406	83605698	87200281	192	12140											
ZNF292	0	.	GRCh38	chr6	87255305	87255305	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcacagaatagtacgacAtgctcagaaacattacaaag	17	8	8	8	1	2	2	2	0	0	2	2	3	2	2	0	1	4	2	0	1	6	3	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.1676A>T	p.His559Leu	p.H559L	ENST00000369577	8/8	265	199	66	309	308	1	strelka-varscan	ZNF292,missense_variant,p.His559Leu,ENST00000369577,NM_015021.1;ZNF292,missense_variant,p.His554Leu,ENST00000339907,;ZNF292,intron_variant,,ENST00000496806,;ZNF292,downstream_gene_variant,,ENST00000466062,;	T	ENST00000369577	Transcript	missense_variant	1719/10610	1676/8172	559/2723	H/L	cAt/cTt		1		1	ZNF292	HGNC	HGNC:18410	protein_coding	YES	CCDS47457.1	ENSP00000358590	O60281		UPI000020D2CC	NM_015021.1	deleterious(0)		8/8		hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14,SMART_domains:SM00355																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	42	87255305	87255305	A	T	1	0	0	0	0	1	0	0	0	18402	217	8	4		4	ZNF292	6	87255305	Missense_Mutation	SNP	A	C3N-00203_TP	3649607	87255305	83550674	193	12141											
RWDD1	0	.	GRCh38	chr6	116588953	116588953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagagaagaagaaaagaaaCaaaaagaaaaagaagcagaa	29	0	10	2	0	0	7	0	0	0	7	0	9	0	7	0	0	2	1	0	0	12	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.382C>A	p.Gln128Lys	p.Q128K	ENST00000466444	4/7	66	61	5	84	84	0	varscan-mutect	RWDD1,missense_variant,p.Gln128Lys,ENST00000466444,NM_015952.3;RWDD1,missense_variant,p.Gln32Lys,ENST00000487832,NM_001007464.2,NM_016104.3;RWDD1,missense_variant,p.Gln32Lys,ENST00000368590,;RWDD1,missense_variant,p.Gln32Lys,ENST00000518117,;RWDD1,missense_variant,p.Gln32Lys,ENST00000468204,;RWDD1,downstream_gene_variant,,ENST00000517800,;	A	ENST00000466444	Transcript	missense_variant	598/5522	382/732	128/243	Q/K	Caa/Aaa		1		1	RWDD1	HGNC	HGNC:20993	protein_coding	YES	CCDS34520.1	ENSP00000420357	Q9H446		UPI000006CF1D	NM_015952.3	tolerated(0.77)		4/7		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12292																	MODERATE	1	SNV	1			1										PASS		rs765661167	.												A	3	1	42	116588953	116588953	C	A	1	0	0	0	0	1	0	0	0	14015	479	17	2		2	RWDD1	6	116588953	Missense_Mutation	SNP	C	C3N-00203_TP	29333648	116588953	54217026	194	12142											
GPRC6A	0	.	GRCh38	chr6	116829005	116829005	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtaattagtataattaaGaatgccatgtttctatctca	14	15	6	6	0	2	1	1	0	2	1	3	1	2	1	1	1	1	3	1	1	7	7	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.9C>G	p.Phe3Leu	p.F3L	ENST00000310357	1/6	64	43	21	68	68	0	strelka-varscan-mutect	GPRC6A,missense_variant,p.Phe3Leu,ENST00000310357,NM_148963.3;GPRC6A,missense_variant,p.Phe3Leu,ENST00000368549,NM_001286355.1;GPRC6A,missense_variant,p.Phe3Leu,ENST00000530250,NM_001286354.1;	C	ENST00000310357	Transcript	missense_variant	31/2860	9/2781	3/926	F/L	ttC/ttG		1		-1	GPRC6A	HGNC	HGNC:18510	protein_coding	YES	CCDS5112.1	ENSP00000309493	Q5T6X5		UPI000013EFF9	NM_148963.3	tolerated_low_confidence(1)		1/6		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs1347039890	.												C	3	2	42	116829005	116829005	G	C	1	0	0	0	0	1	0	0	0	6607	933	33	4		4	GPRC6A	6	116829005	Missense_Mutation	SNP	G	C3N-00203_TP	240052	116829005	53976974	195	12143											
TBC1D32	0	.	GRCh38	chr6	121112530	121112530	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgtagccttggcaaccaaAgaaaagcagaagtcagaagc	17	6	10	8	0	1	3	1	0	0	3	1	3	1	3	2	1	4	3	2	1	8	3	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.3299T>A	p.Leu1100His	p.L1100H	ENST00000398212	29/32	152	110	42	157	157	0	strelka-varscan-mutect	TBC1D32,missense_variant,p.Leu1141His,ENST00000275159,;TBC1D32,missense_variant,p.Leu1100His,ENST00000398212,NM_152730.5;TBC1D32,non_coding_transcript_exon_variant,,ENST00000398197,;TBC1D32,non_coding_transcript_exon_variant,,ENST00000368464,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;TBC1D32,3_prime_UTR_variant,,ENST00000509492,;	T	ENST00000398212	Transcript	missense_variant	3349/3824	3299/3774	1100/1257	L/H	cTt/cAt		1		-1	TBC1D32	HGNC	HGNC:21485	protein_coding	YES	CCDS43501.1	ENSP00000381270	Q96NH3		UPI0000E67203	NM_152730.5	deleterious(0)		29/32		Pfam_domain:PF14961,hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	42	121112530	121112530	A	T	1	0	0	0	0	1	0	0	0	16022	72	3	4		4	TBC1D32	6	121112530	Missense_Mutation	SNP	A	C3N-00203_TP	4283525	121112530	49693449	196	12144											
PTPRK	0	.	GRCh38	chr6	127998764	127998764	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtctgatgtcttcatgaGattaatgtgctgcagtaaat	10	15	10	6	0	3	2	1	2	2	1	3	3	3	2	0	0	2	4	0	0	3	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.2683C>G	p.Leu895Val	p.L895V	ENST00000532331	18/33	63	45	18	55	55	0	strelka-varscan-mutect	PTPRK,missense_variant,p.Leu879Val,ENST00000368226,NM_002844.3;PTPRK,missense_variant,p.Leu879Val,ENST00000368213,NM_001135648.2;PTPRK,missense_variant,p.Leu895Val,ENST00000532331,NM_001291981.1;PTPRK,missense_variant,p.Leu891Val,ENST00000368210,;PTPRK,missense_variant,p.Leu905Val,ENST00000368207,;PTPRK,missense_variant,p.Leu878Val,ENST00000368215,NM_001291984.1;PTPRK,missense_variant,p.Leu172Val,ENST00000415046,;PTPRK,missense_variant,p.Leu138Val,ENST00000415055,;PTPRK,downstream_gene_variant,,ENST00000524481,;PTPRK,downstream_gene_variant,,ENST00000531050,;	C	ENST00000532331	Transcript	missense_variant	2801/5757	2683/4389	895/1462	L/V	Ctc/Gtc		1		-1	PTPRK	HGNC	HGNC:9674	protein_coding	YES	CCDS78179.1	ENSP00000432973	Q15262		UPI000189A90C	NM_001291981.1	deleterious(0.01)		18/33		hmmpanther:PTHR19134:SF209,hmmpanther:PTHR19134,Gene3D:3.90.190.10,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	127998764	127998764	G	C	1	0	0	0	0	1	0	0	0	12959	942	33	4		4	PTPRK	6	127998764	Missense_Mutation	SNP	G	C3N-00203_TP	6886234	127998764	42807215	197	12145											
TMEM200A	0	.	GRCh38	chr6	130441007	130441008	+	Frame_Shift_Ins	INS	-	-	C																															tgggagaaacagaagtaaaaINScagaatgggagctcctgtgc																								novel		C3N-00203_TP	C3N-00203_NB	-	-																c.586dupC	p.Gln196ProfsTer35	p.Q196Pfs*35	ENST00000392429	2/2	113	81	32	149	149	0	sindel-varindel-pindel	TMEM200A,frameshift_variant,p.Gln196ProfsTer35,ENST00000392429,NM_052913.2;TMEM200A,frameshift_variant,p.Gln196ProfsTer35,ENST00000296978,NM_001258277.1;TMEM200A,frameshift_variant,p.Gln196ProfsTer35,ENST00000545622,NM_001258278.1;TMEM200A,frameshift_variant,p.Gln196ProfsTer35,ENST00000617887,NM_001258276.1;	C	ENST00000392429	Transcript	frameshift_variant	2963-2964/5017	585-586/1476	195-196/491	-/X	-/C		1		1	TMEM200A	HGNC	HGNC:21075	protein_coding	YES	CCDS5140.1	ENSP00000376224	Q86VY9	A8K2A1	UPI000000DA85	NM_052913.2			2/2		hmmpanther:PTHR31815:SF0,hmmpanther:PTHR31815																	HIGH	1	insertion	1	1		1										PASS		.	.												C	7	5	42	130441007	130441007	-	C	1	0	1	1	0	0	0	0	0	16562	40	2	0		0	TMEM200A	6	130441007	Frame_Shift_Ins	INS	-	C3N-00203_TP	2442243	130441007	40364972	198	12146											
TMEM200A	0	.	GRCh38	chr6	130441874	130441874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgagtaacaacctaaagagGggaacttctgaaacaaggtt	16	9	10	6	0	1	3	0	2	1	1	1	4	1	4	1	3	4	2	1	3	7	5	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1452G>T	p.Arg484Ser	p.R484S	ENST00000392429	2/2	62	47	15	81	80	1	strelka-varscan	TMEM200A,missense_variant,p.Arg484Ser,ENST00000392429,NM_052913.2;TMEM200A,missense_variant,p.Arg484Ser,ENST00000296978,NM_001258277.1;TMEM200A,missense_variant,p.Arg484Ser,ENST00000545622,NM_001258278.1;TMEM200A,missense_variant,p.Arg484Ser,ENST00000617887,NM_001258276.1;	T	ENST00000392429	Transcript	missense_variant	3830/5017	1452/1476	484/491	R/S	agG/agT		1		1	TMEM200A	HGNC	HGNC:21075	protein_coding	YES	CCDS5140.1	ENSP00000376224	Q86VY9	A8K2A1	UPI000000DA85	NM_052913.2	deleterious_low_confidence(0)		2/2		hmmpanther:PTHR31815:SF0,hmmpanther:PTHR31815																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	130441874	130441874	G	T	1	0	0	0	0	1	0	0	0	16562	1223	43	2		2	TMEM200A	6	130441874	Missense_Mutation	SNP	G	C3N-00203_TP	867	130441874	40364105	199	12147											
BCLAF1	0	.	GRCh38	chr6	136268293	136268293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgggagaagaaggtgatgCtgaagaggatgaagatcgag	15	6	17	3	1	0	7	0	3	0	4	1	10	0	8	0	3	1	1	0	3	4	0	rs150210620		C3N-00203_TP	C3N-00203_NB	C	C																c.2266G>A	p.Ala756Thr	p.A756T	ENST00000531224	10/13	125	109	16	135	134	1	strelka-varscan	BCLAF1,missense_variant,p.Ala756Thr,ENST00000531224,NM_014739.2;BCLAF1,missense_variant,p.Ala754Thr,ENST00000353331,NM_001077440.1;BCLAF1,missense_variant,p.Ala756Thr,ENST00000527536,;BCLAF1,missense_variant,p.Ala754Thr,ENST00000527759,NM_001301038.1;BCLAF1,missense_variant,p.Ala583Thr,ENST00000530767,NM_001077441.1;BCLAF1,missense_variant,p.Ala754Thr,ENST00000392348,;BCLAF1,intron_variant,,ENST00000534762,;BCLAF1,downstream_gene_variant,,ENST00000628517,;BCLAF1,downstream_gene_variant,,ENST00000529826,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529917,;BCLAF1,missense_variant,p.Ala11Thr,ENST00000533422,;BCLAF1,3_prime_UTR_variant,,ENST00000527613,;BCLAF1,3_prime_UTR_variant,,ENST00000534269,;BCLAF1,3_prime_UTR_variant,,ENST00000532384,;BCLAF1,3_prime_UTR_variant,,ENST00000530429,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529522,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000526228,;BCLAF1,downstream_gene_variant,,ENST00000476194,;BCLAF1,downstream_gene_variant,,ENST00000532076,;BCLAF1,downstream_gene_variant,,ENST00000534792,;BCLAF1,downstream_gene_variant,,ENST00000534321,;	T	ENST00000531224	Transcript	missense_variant	2519/7263	2266/2763	756/920	A/T	Gca/Aca	rs150210620	1		-1	BCLAF1	HGNC	HGNC:16863	protein_coding	YES	CCDS5177.1	ENSP00000435210	Q9NYF8		UPI000006FCE7	NM_014739.2	tolerated(0.08)		10/13		Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	136268293	136268293	C	T	1	0	0	0	0	1	0	0	0	1530	797	28	3		3	BCLAF1	6	136268293	Missense_Mutation	SNP	C	C3N-00203_TP	5826419	136268293	34537686	200	12148											
ADGB	0	.	GRCh38	chr6	146721406	146721406	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctaatttcttgcagttcTcagaagaacgagtgtcctac	10	13	9	9	1	3	2	1	0	3	2	5	3	4	2	1	1	3	2	1	1	4	5	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.1996T>A	p.Ser666Thr	p.S666T	ENST00000397944	17/36	98	68	30	85	84	1	strelka-varscan	ADGB,missense_variant,p.Ser666Thr,ENST00000397944,NM_024694.3;ADGB,missense_variant,p.Ser86Thr,ENST00000480328,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,non_coding_transcript_exon_variant,,ENST00000326929,;	A	ENST00000397944	Transcript	missense_variant	2072/5325	1996/5004	666/1667	S/T	Tca/Aca		1		1	ADGB	HGNC	HGNC:21212	protein_coding	YES		ENSP00000381036	Q8N7X0		UPI000020E382	NM_024694.3	tolerated(0.57)		17/36		hmmpanther:PTHR10183:SF304,hmmpanther:PTHR10183																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	42	146721406	146721406	T	A	1	0	0	0	0	1	0	0	0	351	1565	54	4		4	ADGB	6	146721406	Missense_Mutation	SNP	T	C3N-00203_TP	10453113	146721406	24084573	201	12149											
ADGB	0	.	GRCh38	chr6	146763945	146763945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actctgcatccaagaaagagCaagaagtgtatgttaagaag	17	8	10	6	0	1	4	0	0	1	4	2	4	2	4	1	0	2	4	1	0	7	2	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.3595C>A	p.Gln1199Lys	p.Q1199K	ENST00000397944	28/36	123	92	31	132	132	0	strelka-varscan	ADGB,missense_variant,p.Gln1199Lys,ENST00000397944,NM_024694.3;ADGB,intron_variant,,ENST00000367490,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,intron_variant,,ENST00000480328,;	A	ENST00000397944	Transcript	missense_variant	3671/5325	3595/5004	1199/1667	Q/K	Caa/Aaa		1		1	ADGB	HGNC	HGNC:21212	protein_coding	YES		ENSP00000381036	Q8N7X0		UPI000020E382	NM_024694.3	tolerated(0.82)		28/36																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	42	146763945	146763945	C	A	1	0	0	0	0	1	0	0	0	351	711	25	2		2	ADGB	6	146763945	Missense_Mutation	SNP	C	C3N-00203_TP	42539	146763945	24042034	202	12150											
TCP10	0	.	GRCh38	chr6	167376051	167376051	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctgccaccggagttttgCggacttcgggaagatggatg	7	12	14	8	3	1	1	0	0	1	1	2	5	1	5	2	4	2	1	2	4	1	4	rs781755099		C3N-00203_TP	C3N-00203_NB	C	C																c.603G>T	p.=	p.P201P	ENST00000397829	6/8	161	121	40	159	159	0	strelka-varscan	TCP10,synonymous_variant,p.=,ENST00000366827,;TCP10,synonymous_variant,p.=,ENST00000617120,;TCP10,synonymous_variant,p.=,ENST00000397829,NM_004610.3;TCP10,3_prime_UTR_variant,,ENST00000460930,;TCP10,downstream_gene_variant,,ENST00000476779,;TCP10,non_coding_transcript_exon_variant,,ENST00000508373,;TCP10,non_coding_transcript_exon_variant,,ENST00000463894,;TCP10,upstream_gene_variant,,ENST00000514083,;TCP10,downstream_gene_variant,,ENST00000491085,;	A	ENST00000397829	Transcript	synonymous_variant	771/2141	603/981	201/326	P	ccG/ccT	rs781755099	1		-1	TCP10	HGNC	HGNC:11656	protein_coding	YES	CCDS43527.1	ENSP00000380929		D1MPS5	UPI0000D820CE	NM_004610.3			6/8		hmmpanther:PTHR10331																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	167376051	167376051	C	A	1	0	0	0	0	0	0	0	1	16117	755	27	1		1	TCP10	6	167376051	Silent	SNP	C	C3N-00203_TP	20612106	167376051	3429928	203	12151											
TTYH3	0	.	GRCh38	chr7	2656128	2656128	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaggtgctgaatggcAcggaggtgaacctgcagcac	10	6	15	10	1	0	2	0	2	0	0	1	4	1	4	2	5	4	4	2	5	2	0	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.1057A>C	p.Thr353Pro	p.T353P	ENST00000258796	10/14	150	132	18	95	94	1	strelka-varscan-mutect	TTYH3,missense_variant,p.Thr353Pro,ENST00000258796,NM_025250.2;TTYH3,missense_variant,p.Thr321Pro,ENST00000407643,;TTYH3,missense_variant,p.Thr182Pro,ENST00000403167,;TTYH3,missense_variant,p.Thr13Pro,ENST00000429448,;TTYH3,non_coding_transcript_exon_variant,,ENST00000498454,;	C	ENST00000258796	Transcript	missense_variant	1262/4840	1057/1572	353/523	T/P	Acg/Ccg		1		1	TTYH3	HGNC	HGNC:22222	protein_coding	YES	CCDS34588.1	ENSP00000258796	Q9C0H2	A0A024R816	UPI000020E9F9	NM_025250.2	deleterious(0)		10/14		Pfam_domain:PF04906,hmmpanther:PTHR12424,hmmpanther:PTHR12424:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	2656128	2656128	A	C	1	0	0	0	0	1	0	0	0	17251	159	6	5		5	TTYH3	7	2656128	Missense_Mutation	SNP	A	C3N-00203_TP		2656128	156689845	204	12152											
SDK1	0	.	GRCh38	chr7	4049444	4049444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctcagcagtttatcaatgGcatcaaccagggatacaagg	13	8	10	10	0	3	0	3	0	0	0	3	1	3	1	2	3	3	3	2	3	5	3	rs774536015		C3N-00203_TP	C3N-00203_NB	G	G																c.2699G>T	p.Gly900Val	p.G900V	ENST00000404826	18/45	247	182	65	173	171	2	strelka-varscan-mutect	SDK1,missense_variant,p.Gly900Val,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Gly900Val,ENST00000615806,;SDK1,missense_variant,p.Gly900Val,ENST00000389531,;	T	ENST00000404826	Transcript	missense_variant	2838/10397	2699/6642	900/2213	G/V	gGc/gTc	rs774536015	1		1	SDK1	HGNC	HGNC:19307	protein_coding	YES	CCDS34590.1	ENSP00000385899	Q7Z5N4		UPI0000DBEEC4	NM_152744.3	deleterious(0)		18/45		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF36,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		rs774536015	.												T	3	4	42	4049444	4049444	G	T	1	0	0	0	0	1	0	0	0	14243	1203	42	2		2	SDK1	7	4049444	Missense_Mutation	SNP	G	C3N-00203_TP	1393316	4049444	155296529	205	12153											
HOXA2	0	.	GRCh38	chr7	27102301	27102301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcggccgccagcgccgTggcgagggtgactgccgggg	3	4	22	12	6	0	1	0	1	0	0	0	2	0	1	4	7	2	0	4	7	0	0	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.200A>G	p.His67Arg	p.H67R	ENST00000222718	1/2	279	216	63	222	222	0	strelka-varscan	HOXA2,missense_variant,p.His67Arg,ENST00000222718,NM_006735.3;HOXA3,downstream_gene_variant,,ENST00000612286,NM_153631.2;HOXA3,downstream_gene_variant,,ENST00000396352,NM_030661.4;HOXA3,downstream_gene_variant,,ENST00000317201,;HOTAIRM1,downstream_gene_variant,,ENST00000428939,;HOTAIRM1,downstream_gene_variant,,ENST00000429611,;HOTAIRM1,downstream_gene_variant,,ENST00000434063,;HOTAIRM1,downstream_gene_variant,,ENST00000593300,;HOTAIRM1,downstream_gene_variant,,ENST00000425358,;HOTAIRM1_2,downstream_gene_variant,,ENST00000616712,;HOTAIRM1_5,downstream_gene_variant,,ENST00000619311,;HOTAIRM1_4,downstream_gene_variant,,ENST00000617934,;HOTAIRM1_3,downstream_gene_variant,,ENST00000619974,;HOXA2,non_coding_transcript_exon_variant,,ENST00000612779,;	C	ENST00000222718	Transcript	missense_variant	511/1814	200/1131	67/376	H/R	cAc/cGc		1		-1	HOXA2	HGNC	HGNC:5103	protein_coding	YES	CCDS5403.1	ENSP00000222718	O43364		UPI0000049C49	NM_006735.3	tolerated(0.12)		1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF179																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	27102301	27102301	T	C	1	0	0	0	0	1	0	0	0	7186	1696	59	5		5	HOXA2	7	27102301	Missense_Mutation	SNP	T	C3N-00203_TP	23052857	27102301	132243672	206	12154											
GLI3	0	.	GRCh38	chr7	42076810	42076810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggccctcatgatgtctggCatcaattggtacaggaggat	10	10	12	9	1	3	1	2	1	1	0	3	3	3	3	1	5	1	2	1	5	2	2			C3N-00203_TP	C3N-00203_NB	C	C																c.415G>T	p.Ala139Ser	p.A139S	ENST00000395925	4/15	387	300	87	317	317	0	strelka-varscan	GLI3,missense_variant,p.Ala139Ser,ENST00000395925,NM_000168.5;GLI3,missense_variant,p.Ala139Ser,ENST00000448703,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;	A	ENST00000395925	Transcript	missense_variant	500/8208	415/4743	139/1580	A/S	Gcc/Tcc	COSM3881029	1		-1	GLI3	HGNC	HGNC:4319	protein_coding	YES	CCDS5465.1	ENSP00000379258	P10071		UPI000020EE4C	NM_000168.5	tolerated(0.09)		4/15		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF5											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	42	42076810	42076810	C	A	1	0	0	0	0	1	0	0	0	6317	710	25	2		2	GLI3	7	42076810	Missense_Mutation	SNP	C	C3N-00203_TP	14974509	42076810	117269163	207	12155											
PSMA2	0	.	GRCh38	chr7	42932142	42932142	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtagtcagcgaaaagctgTacccgcgctccgccatcttt	9	10	9	13	4	2	0	1	0	1	0	3	1	3	0	3	0	3	4	3	0	4	3	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.17A>G	p.Tyr6Cys	p.Y6C	ENST00000223321	1/8	406	329	77	306	306	0	strelka-varscan	PSMA2,missense_variant,p.Tyr6Cys,ENST00000223321,NM_002787.4;PSMA2,missense_variant,p.Tyr6Cys,ENST00000445517,;MRPL32,upstream_gene_variant,,ENST00000223324,NM_031903.2;MRPL32,upstream_gene_variant,,ENST00000496564,;PSMA2,missense_variant,p.Tyr6Cys,ENST00000411875,;RP11-111K18.1,missense_variant,p.Tyr6Cys,ENST00000442788,;PSMA2,missense_variant,p.Tyr5Cys,ENST00000436986,;RP11-111K18.1,missense_variant,p.Tyr6Cys,ENST00000433579,;MRPL32,upstream_gene_variant,,ENST00000432845,;PSMA2,upstream_gene_variant,,ENST00000457444,;MRPL32,upstream_gene_variant,,ENST00000413995,;	C	ENST00000223321	Transcript	missense_variant	82/1487	17/705	6/234	Y/C	tAc/tGc		1		-1	PSMA2	HGNC	HGNC:9531	protein_coding	YES	CCDS5467.1	ENSP00000223321	P25787		UPI000004D00F	NM_002787.4	deleterious(0)		1/8		hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF16,PROSITE_patterns:PS00388,Gene3D:3.60.20.10,Pfam_domain:PF10584,SMART_domains:SM00948,Superfamily_domains:SSF56235																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	42932142	42932142	T	C	1	0	0	0	0	1	0	0	0	12818	1638	57	5		5	PSMA2	7	42932142	Missense_Mutation	SNP	T	C3N-00203_TP	855332	42932142	116413831	208	12156											
ADCY1	0	.	GRCh38	chr7	45703423	45703423	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggtgaagctggacaacagGcgcatcctcttcaacctcct	11	8	9	13	1	2	1	1	1	1	0	4	2	4	2	3	3	3	2	3	3	4	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.2502G>T	p.Arg834Ser	p.R834S	ENST00000297323	15/20	299	231	68	228	227	1	strelka-varscan	ADCY1,missense_variant,p.Arg834Ser,ENST00000297323,NM_021116.2;	T	ENST00000297323	Transcript	missense_variant	2524/12503	2502/3360	834/1119	R/S	agG/agT		1		1	ADCY1	HGNC	HGNC:232	protein_coding	YES	CCDS34631.1	ENSP00000297323	Q08828		UPI0000199C4A	NM_021116.2	tolerated(0.05)		15/20		hmmpanther:PTHR11920:SF336,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050,SMART_domains:SM00044																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	45703423	45703423	G	T	1	0	0	0	0	1	0	0	0	336	1194	42	2		2	ADCY1	7	45703423	Missense_Mutation	SNP	G	C3N-00203_TP	2771281	45703423	113642550	209	12157											
EGFR	0	.	GRCh38	chr7	55160276	55160276	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatacaataaactggaaaaAactgtttgggacctccggtc	16	9	8	8	1	0	0	0	0	0	0	2	2	1	2	2	3	3	1	2	3	8	3	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.1436A>T	p.Lys479Ile	p.K479I	ENST00000275493	12/28	273	215	58	220	220	0	strelka-varscan	EGFR,missense_variant,p.Lys479Ile,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Lys434Ile,ENST00000454757,;EGFR,missense_variant,p.Lys434Ile,ENST00000455089,;EGFR,missense_variant,p.Lys479Ile,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.Lys479Ile,ENST00000342916,NM_201282.1;EGFR,downstream_gene_variant,,ENST00000420316,NM_201283.1;	T	ENST00000275493	Transcript	missense_variant	1613/9821	1436/3633	479/1210	K/I	aAa/aTa		1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	tolerated(0.08)		12/28		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Pfam_domain:PF01030,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	55160276	55160276	A	T	1	0	0	0	0	1	0	0	0	4803	14	1	4		4	EGFR	7	55160276	Missense_Mutation	SNP	A	C3N-00203_TP	9456853	55160276	104185697	210	12158											
WBSCR17	0	.	GRCh38	chr7	71665410	71665410	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaaatctttgtacccctaGgtatggctctgtgggggcag	8	12	13	8	0	2	1	0	1	2	0	2	1	2	1	2	4	1	4	2	4	4	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1081-1G>A		p.X361_splice	ENST00000333538		104	86	18	90	90	0	strelka-varscan	WBSCR17,splice_acceptor_variant,,ENST00000333538,NM_022479.2;WBSCR17,splice_acceptor_variant,,ENST00000618959,;WBSCR17,splice_acceptor_variant,,ENST00000498380,;WBSCR17,splice_acceptor_variant,,ENST00000467723,;	A	ENST00000333538	Transcript	splice_acceptor_variant	-/3884	1081/1797	361/598				1		1	WBSCR17	HGNC	HGNC:16347	protein_coding	YES	CCDS5540.1	ENSP00000329654	Q6IS24	Q2L4S5	UPI00000502D5	NM_022479.2				6/10																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	42	71665410	71665410	G	A	1	0	0	0	0	0	0	1	0	17823	1014	35	3		3	WBSCR17	7	71665410	Splice_Site	SNP	G	C3N-00203_TP	16505134	71665410	87680563	211	12159											
FKBP6	0	.	GRCh38	chr7	73328584	73328584	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccatcagtccctgtacGagcggttaagtcagaggatg	9	11	11	10	2	3	1	2	0	1	1	5	3	4	2	2	2	2	2	2	2	2	3	rs545404821		C3N-00203_TP	C3N-00203_NB	G	G																c.67G>T	p.Glu23Ter	p.E23*	ENST00000252037	2/9	304	254	50	241	241	0	strelka-varscan	FKBP6,stop_gained,p.Glu23Ter,ENST00000413573,NM_001281304.1;FKBP6,stop_gained,p.Glu23Ter,ENST00000252037,NM_003602.4;FKBP6,stop_gained,p.Glu18Ter,ENST00000431982,NM_001135211.2;FKBP6,stop_gained,p.Glu18Ter,ENST00000442793,;TRIM50,upstream_gene_variant,,ENST00000333149,NM_178125.3,NM_001281450.1;TRIM50,upstream_gene_variant,,ENST00000453152,NM_001281451.1;TRIM50,upstream_gene_variant,,ENST00000493498,;FKBP6,stop_gained,p.Glu23Ter,ENST00000445032,;FKBP6,stop_gained,p.Glu23Ter,ENST00000429879,;FKBP6,non_coding_transcript_exon_variant,,ENST00000437013,;	T	ENST00000252037	Transcript	stop_gained	136/1500	67/984	23/327	E/*	Gag/Tag	rs545404821	1		1	FKBP6	HGNC	HGNC:3722	protein_coding	YES	CCDS43595.1	ENSP00000252037	O75344		UPI000000165F	NM_003602.4			2/9		Gene3D:3.10.50.40,hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF10,Superfamily_domains:SSF54534																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	42	73328584	73328584	G	T	1	0	0	0	0	0	1	0	0	5776	1059	37	1		1	FKBP6	7	73328584	Nonsense_Mutation	SNP	G	C3N-00203_TP	1663174	73328584	86017389	212	12160											
GPC2	0	.	GRCh38	chr7	100176265	100176265	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggagccgctgtcctcCaccaggcctcggaaggtggc	9	5	14	13	2	0	1	0	0	0	1	3	3	2	3	5	5	1	1	5	5	2	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.267G>T	p.=	p.V89V	ENST00000292377	2/10	369	225	144	246	245	1	strelka-varscan-mutect	GPC2,synonymous_variant,p.=,ENST00000292377,NM_152742.2;STAG3,upstream_gene_variant,,ENST00000426455,NM_001282716.1;STAG3,upstream_gene_variant,,ENST00000615138,NM_001282717.1;STAG3,upstream_gene_variant,,ENST00000620100,;STAG3,upstream_gene_variant,,ENST00000317296,NM_012447.3;STAG3,upstream_gene_variant,,ENST00000394018,NM_001282718.1;STAG3,upstream_gene_variant,,ENST00000439782,;STAG3,upstream_gene_variant,,ENST00000416412,;STAG3,upstream_gene_variant,,ENST00000422690,;GPC2,upstream_gene_variant,,ENST00000490629,;GPC2,synonymous_variant,p.=,ENST00000480087,;GPC2,non_coding_transcript_exon_variant,,ENST00000471717,;STAG3,upstream_gene_variant,,ENST00000496157,;GPC2,upstream_gene_variant,,ENST00000486702,;STAG3,upstream_gene_variant,,ENST00000482546,;	A	ENST00000292377	Transcript	synonymous_variant	435/2532	267/1740	89/579	V	gtG/gtT		1		-1	GPC2	HGNC	HGNC:4450	protein_coding	YES	CCDS5689.1	ENSP00000292377	Q8N158		UPI000005340D	NM_152742.2			2/10		hmmpanther:PTHR10822:SF24,hmmpanther:PTHR10822,Pfam_domain:PF01153																	LOW	1	SNV	1			1										PASS		rs1349286268	.												A	2	1	42	100176265	100176265	C	A	1	0	0	0	0	0	0	0	1	6500	581	21	2		2	GPC2	7	100176265	Silent	SNP	C	C3N-00203_TP	26847681	100176265	59169708	213	12161											
PCOLCE	0	.	GRCh38	chr7	100604073	100604073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgggacttccggccagCggctcggacgcttttgtggg	3	10	17	11	4	1	0	0	0	1	0	3	2	2	2	2	6	1	2	2	6	0	3	rs143607884		C3N-00203_TP	C3N-00203_NB	C	C																c.319C>T	p.Arg107Trp	p.R107W	ENST00000223061	3/9	798	653	145	414	414	0	strelka-varscan-mutect	PCOLCE,missense_variant,p.Arg107Trp,ENST00000223061,NM_002593.3;FBXO24,downstream_gene_variant,,ENST00000241071,NM_033506.2;FBXO24,downstream_gene_variant,,ENST00000427939,NM_012172.4;FBXO24,downstream_gene_variant,,ENST00000468962,NM_001163499.1;PCOLCE-AS1,non_coding_transcript_exon_variant,,ENST00000446022,;PCOLCE-AS1,upstream_gene_variant,,ENST00000442166,;PCOLCE,non_coding_transcript_exon_variant,,ENST00000496269,;PCOLCE,upstream_gene_variant,,ENST00000486440,;PCOLCE,non_coding_transcript_exon_variant,,ENST00000487172,;PCOLCE,non_coding_transcript_exon_variant,,ENST00000462260,;PCOLCE,non_coding_transcript_exon_variant,,ENST00000482863,;FBXO24,downstream_gene_variant,,ENST00000488079,;PCOLCE,upstream_gene_variant,,ENST00000472348,;PCOLCE,upstream_gene_variant,,ENST00000468214,;PCOLCE,upstream_gene_variant,,ENST00000460002,;PCOLCE,upstream_gene_variant,,ENST00000490909,;	T	ENST00000223061	Transcript	missense_variant	599/1702	319/1350	107/449	R/W	Cgg/Tgg	rs143607884	1		1	PCOLCE	HGNC	HGNC:8738	protein_coding	YES	CCDS5700.1	ENSP00000223061	Q15113		UPI0000131428	NM_002593.3	deleterious(0)		3/9		PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF628,hmmpanther:PTHR10127,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		rs143607884	.												T	3	4	42	100604073	100604073	C	T	1	0	0	0	0	1	0	0	0	11683	759	27	1		1	PCOLCE	7	100604073	Missense_Mutation	SNP	C	C3N-00203_TP	427808	100604073	58741900	214	12162											
TRIM56	0	.	GRCh38	chr7	101087395	101087395	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatctgcctggagcagcTgcgggcacccaagacactgc	11	6	11	13	1	1	1	0	0	1	1	1	2	1	2	2	2	5	3	2	2	3	1	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.83T>A	p.Leu28Gln	p.L28Q	ENST00000306085	3/3	320	204	116	149	149	0	strelka-varscan-mutect	TRIM56,missense_variant,p.Leu28Gln,ENST00000306085,NM_030961.2;TRIM56,missense_variant,p.Leu28Gln,ENST00000412507,;TRIM56,missense_variant,p.Leu28Gln,ENST00000467847,;TRIM56,upstream_gene_variant,,ENST00000487252,;	A	ENST00000306085	Transcript	missense_variant	380/10952	83/2268	28/755	L/Q	cTg/cAg		1		1	TRIM56	HGNC	HGNC:19028	protein_coding	YES	CCDS43625.1	ENSP00000305161	Q9BRZ2		UPI0000171C4A	NM_030961.2	deleterious(0)		3/3		PROSITE_profiles:PS50089,hmmpanther:PTHR24103:SF331,hmmpanther:PTHR24103,Gene3D:3.30.40.10,Pfam_domain:PF13445,SMART_domains:SM00184,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	101087395	101087395	T	A	1	0	0	0	0	1	0	0	0	17023	1580	55	4		4	TRIM56	7	101087395	Missense_Mutation	SNP	T	C3N-00203_TP	483322	101087395	58258578	215	12163											
LRRN3	0	.	GRCh38	chr7	111123692	111123692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgatagtcttgctgtggataAcctgccagatttaagaaaaa	14	11	9	7	1	1	2	0	0	1	2	1	4	1	3	2	1	3	1	2	1	5	5	rs758915597		C3N-00203_TP	C3N-00203_NB	A	A																c.920A>G	p.Asn307Ser	p.N307S	ENST00000451085	4/4	339	290	49	218	218	0	strelka-varscan-mutect	LRRN3,missense_variant,p.Asn307Ser,ENST00000451085,NM_001099660.1;LRRN3,missense_variant,p.Asn307Ser,ENST00000422987,NM_018334.4;LRRN3,missense_variant,p.Asn307Ser,ENST00000308478,NM_001099658.1;IMMP2L,intron_variant,,ENST00000405709,NM_032549.3;IMMP2L,intron_variant,,ENST00000331762,NM_001244606.1;IMMP2L,intron_variant,,ENST00000447215,;IMMP2L,intron_variant,,ENST00000452895,;IMMP2L,intron_variant,,ENST00000450877,;LRRN3,downstream_gene_variant,,ENST00000421101,;IMMP2L,intron_variant,,ENST00000489381,;	G	ENST00000451085	Transcript	missense_variant	1966/3725	920/2127	307/708	N/S	aAc/aGc	rs758915597	1		1	LRRN3	HGNC	HGNC:17200	protein_coding	YES	CCDS5754.1	ENSP00000397312	Q9H3W5	A4D0T1	UPI0000037517	NM_001099660.1	deleterious(0.02)		4/4		Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF7,Superfamily_domains:SSF52058																	MODERATE		SNV	2			1										PASS		rs758915597	.												G	3	3	42	111123692	111123692	A	G	1	0	0	0	0	1	0	0	0	8942	43	2	5		5	LRRN3	7	111123692	Missense_Mutation	SNP	A	C3N-00203_TP	10036297	111123692	48222281	216	12164											
CTTNBP2	0	.	GRCh38	chr7	117725254	117725254	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccattccacagcttagacatCcacctagcaggagagggacc	12	6	9	14	0	0	2	0	0	0	2	2	4	2	3	5	2	2	2	5	2	2	3	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.4059G>T	p.Trp1353Cys	p.W1353C	ENST00000160373	18/23	427	241	186	209	209	0	strelka-varscan-mutect	CTTNBP2,missense_variant,p.Trp1353Cys,ENST00000160373,NM_033427.2;CTTNBP2,missense_variant,p.Trp841Cys,ENST00000446636,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;CTTNBP2,intron_variant,,ENST00000445366,;	A	ENST00000160373	Transcript	missense_variant	4151/5970	4059/4992	1353/1663	W/C	tgG/tgT		1		-1	CTTNBP2	HGNC	HGNC:15679	protein_coding	YES	CCDS5774.1	ENSP00000160373	Q8WZ74	Q20BG9	UPI000006E94A	NM_033427.2	deleterious(0)		18/23		hmmpanther:PTHR24166:SF27,hmmpanther:PTHR24166																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	117725254	117725254	C	A	1	0	0	0	0	1	0	0	0	3854	869	30	2		2	CTTNBP2	7	117725254	Missense_Mutation	SNP	C	C3N-00203_TP	6601562	117725254	41620719	217	12165											
CPED1	0	.	GRCh38	chr7	121244291	121244291	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccccacaactgccaatatGgtgtcctaactaagcctcaa	13	8	6	14	0	1	0	1	0	0	0	2	0	2	0	5	1	5	0	5	1	6	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.2263G>C	p.Gly755Arg	p.G755R	ENST00000310396	18/23	493	334	159	342	342	0	strelka-varscan-mutect	CPED1,missense_variant,p.Gly755Arg,ENST00000310396,NM_024913.4;CPED1,missense_variant,p.Gly755Arg,ENST00000450913,NM_001105533.1;CPED1,missense_variant,p.Gly535Arg,ENST00000423795,;CPED1,non_coding_transcript_exon_variant,,ENST00000466055,;	C	ENST00000310396	Transcript	missense_variant	2730/5340	2263/3081	755/1026	G/R	Ggt/Cgt		1		1	CPED1	HGNC	HGNC:26159	protein_coding	YES	CCDS34739.1	ENSP00000309772	A4D0V7		UPI000013C813	NM_024913.4	tolerated(0.19)		18/23		hmmpanther:PTHR14776																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	121244291	121244291	G	C	1	0	0	0	0	1	0	0	0	3598	1348	47	4		4	CPED1	7	121244291	Missense_Mutation	SNP	G	C3N-00203_TP	3519037	121244291	38101682	218	12166											
SLC13A1	0	.	GRCh38	chr7	123169305	123169305	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagccacatagacaaaaaGgcagtgctgctcatgaaccc	14	6	9	12	0	1	3	1	2	0	1	1	3	1	3	2	1	4	3	2	1	4	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.396C>T	p.=	p.A132A	ENST00000194130	4/15	188	160	28	123	123	0	strelka-varscan-mutect	SLC13A1,synonymous_variant,p.=,ENST00000194130,NM_022444.3;SLC13A1,synonymous_variant,p.=,ENST00000539873,;SLC13A1,3_prime_UTR_variant,,ENST00000427975,;SLC13A1,3_prime_UTR_variant,,ENST00000439260,;	A	ENST00000194130	Transcript	synonymous_variant	436/3815	396/1788	132/595	A	gcC/gcT		1		-1	SLC13A1	HGNC	HGNC:10916	protein_coding	YES	CCDS5786.1	ENSP00000194130	Q9BZW2	A4D0X1	UPI0000049F9D	NM_022444.3			4/15		Transmembrane_helices:TMhelix,hmmpanther:PTHR10283:SF65,hmmpanther:PTHR10283,Pfam_domain:PF00939																	LOW	1	SNV	1			1										PASS		rs1276746627	.												A	2	1	42	123169305	123169305	G	A	1	0	0	0	0	0	0	0	1	14656	987	35	3		3	SLC13A1	7	123169305	Silent	SNP	G	C3N-00203_TP	1925014	123169305	36176668	219	12167											
GPR37	0	.	GRCh38	chr7	124764630	124764630	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacctccaggggccaggtGgcctggttggaggtcccggg	4	7	17	13	1	0	0	0	0	0	0	3	1	3	1	6	8	0	1	6	8	0	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.347C>G	p.Pro116Arg	p.P116R	ENST00000303921	1/2	73	59	14	59	59	0	strelka-varscan-mutect	GPR37,missense_variant,p.Pro116Arg,ENST00000303921,NM_005302.3;	C	ENST00000303921	Transcript	missense_variant	998/3021	347/1842	116/613	P/R	cCa/cGa		1		-1	GPR37	HGNC	HGNC:4494	protein_coding	YES	CCDS5792.1	ENSP00000306449	O15354		UPI0000001C92	NM_005302.3	tolerated_low_confidence(0.24)		1/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1230885802	.												C	3	2	42	124764630	124764630	G	C	1	0	0	0	0	1	0	0	0	6576	1348	47	4		4	GPR37	7	124764630	Missense_Mutation	SNP	G	C3N-00203_TP	1595325	124764630	34581343	220	12168											
KCP	0	.	GRCh38	chr7	128910665	128910665	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggacagcgcagcggccccGaccccggccatgctagctcc	7	3	13	18	4	0	0	0	0	0	0	1	2	1	1	6	3	4	3	6	3	1	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.12C>T	p.=	p.V4V	ENST00000610776	1/40	196	170	26	92	92	0	strelka-varscan-mutect	KCP,synonymous_variant,p.=,ENST00000610776,;KCP,synonymous_variant,p.=,ENST00000613019,;KCP,synonymous_variant,p.=,ENST00000620378,NM_001135914.1;KCP,non_coding_transcript_exon_variant,,ENST00000612224,;KCP,synonymous_variant,p.=,ENST00000611280,;RP11-309L24.6,downstream_gene_variant,,ENST00000469533,;	A	ENST00000610776	Transcript	synonymous_variant	55/5108	12/4887	4/1628	V	gtC/gtT		1		-1	KCP	HGNC	HGNC:17585	protein_coding	YES		ENSP00000479679		A0A087WVT8	UPI0004620CE8				1/40		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	42	128910665	128910665	G	A	1	0	0	0	0	0	0	0	1	8012	1045	37	1		1	KCP	7	128910665	Silent	SNP	G	C3N-00203_TP	4146035	128910665	30435308	221	12169											
RP11-286H14.4	0	.	GRCh38	chr7	129127053	129127053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcattgcggttctccgggGcttggcgtacctccgagaga	6	9	14	12	4	1	1	0	0	1	1	3	3	2	1	3	4	3	4	3	4	1	4	rs757791946		C3N-00203_TP	C3N-00203_NB	G	G																c.536G>T	p.Gly179Val	p.G179V	ENST00000467614	1/2	803	528	275	511	511	0	strelka-varscan-mutect	RP11-286H14.4,missense_variant,p.Gly179Val,ENST00000467614,;	T	ENST00000467614	Transcript	missense_variant	536/1263	536/1218	179/405	G/V	gGc/gTc	rs757791946	1		1	RP11-286H14.4	Clone_based_vega_gene		protein_coding	YES		ENSP00000490163					deleterious(0)		1/2		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF314,Superfamily_domains:SSF56112																	MODERATE	1	SNV				1										PASS		rs757791946	.												T	3	4	42	129127053	129127053	G	T	1	0	0	0	0	1	0	0	0	13725	1203	42	2		2	RP11-286H14.4	7	129127053	Missense_Mutation	SNP	G	C3N-00203_TP	216388	129127053	30218920	222	12170											
CEP41	0	.	GRCh38	chr7	130416935	130416935	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacttttcttaatctcttcGagcttctcagtatatttagt	8	21	4	8	1	3	0	1	0	3	0	6	1	3	0	0	0	2	2	0	0	5	10	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.129C>T	p.=	p.L43L	ENST00000223208	3/11	362	216	146	310	309	1	strelka-varscan-mutect	CEP41,synonymous_variant,p.=,ENST00000223208,NM_018718.2;CEP41,synonymous_variant,p.=,ENST00000343969,NM_001257158.1;CEP41,synonymous_variant,p.=,ENST00000472739,;CEP41,synonymous_variant,p.=,ENST00000492389,;CEP41,synonymous_variant,p.=,ENST00000475282,;CEP41,synonymous_variant,p.=,ENST00000477003,;CEP41,synonymous_variant,p.=,ENST00000469826,;CEP41,intron_variant,,ENST00000541543,NM_001257159.1;CEP41,downstream_gene_variant,,ENST00000616628,NM_001257160.1;CEP41,downstream_gene_variant,,ENST00000489512,;CEP41,downstream_gene_variant,,ENST00000495702,;CEP41,downstream_gene_variant,,ENST00000334451,;CEP41,synonymous_variant,p.=,ENST00000484549,;CEP41,3_prime_UTR_variant,,ENST00000471201,;CEP41,non_coding_transcript_exon_variant,,ENST00000498527,;CEP41,non_coding_transcript_exon_variant,,ENST00000482730,;	A	ENST00000223208	Transcript	synonymous_variant	400/6513	129/1122	43/373	L	ctC/ctT		1		-1	CEP41	HGNC	HGNC:12370	protein_coding	YES	CCDS5821.1	ENSP00000223208	Q9BYV8		UPI000006D546	NM_018718.2			3/11		Coiled-coils_(Ncoils):Coil																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	130416935	130416935	G	A	1	0	0	0	0	0	0	0	1	2973	1045	37	1		1	CEP41	7	130416935	Silent	SNP	G	C3N-00203_TP	1289882	130416935	28929038	223	12171											
WEE2	0	.	GRCh38	chr7	141709074	141709074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagcaggagcaagctgctgCccagtgacagcccctctact	10	6	10	15	0	1	1	0	1	1	0	1	2	1	2	3	1	7	4	3	1	2	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.316C>A	p.Pro106Thr	p.P106T	ENST00000397541	1/12	156	111	45	116	116	0	strelka-varscan-mutect	WEE2,missense_variant,p.Pro106Thr,ENST00000397541,NM_001105558.1;WEE2-AS1,intron_variant,,ENST00000488785,;WEE2-AS1,intron_variant,,ENST00000478332,;WEE2-AS1,intron_variant,,ENST00000462383,;WEE2-AS1,intron_variant,,ENST00000495800,;WEE2-AS1,intron_variant,,ENST00000465110,;WEE2-AS1,intron_variant,,ENST00000471512,;WEE2-AS1,intron_variant,,ENST00000459753,;	A	ENST00000397541	Transcript	missense_variant	722/3061	316/1704	106/567	P/T	Ccc/Acc		1		1	WEE2	HGNC	HGNC:19684	protein_coding	YES	CCDS43660.1	ENSP00000380675	P0C1S8		UPI000004E9D3	NM_001105558.1	tolerated(0.19)		1/12		hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF75,PIRSF_domain:PIRSF037281																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	42	141709074	141709074	C	A	1	0	0	0	0	1	0	0	0	17902	739	26	2		2	WEE2	7	141709074	Missense_Mutation	SNP	C	C3N-00203_TP	11292139	141709074	17636899	224	12172											
MGAM2	0	.	GRCh38	chr7	142198656	142198656	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagaggaaaatcctgaaGgctccccttgaccacatcaa	13	7	9	12	0	2	3	2	2	0	1	4	4	4	4	4	3	0	1	4	3	4	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.4965G>A	p.=	p.K1655K	ENST00000477922	44/48	298	199	99	155	155	0	strelka-varscan-mutect	MGAM2,synonymous_variant,p.=,ENST00000477922,NM_001293626.1;MGAM2,non_coding_transcript_exon_variant,,ENST00000496337,;	A	ENST00000477922	Transcript	synonymous_variant	5019/7867	4965/7548	1655/2515	K	aaG/aaA		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1			44/48		Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF55,Superfamily_domains:SSF51011																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	42	142198656	142198656	G	A	1	0	0	0	0	0	0	0	1	9500	991	35	3		3	MGAM2	7	142198656	Silent	SNP	G	C3N-00203_TP	489582	142198656	17147317	225	12173											
KRBA1	0	.	GRCh38	chr7	149723786	149723786	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggtctgctacactgTctgaaggagctccccgaggc	7	8	12	14	1	2	1	0	1	2	0	4	3	4	2	3	3	3	2	3	3	2	1	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.927T>C	p.=	p.C309C	ENST00000496259	8/17	453	400	53	170	170	0	strelka-varscan-mutect	KRBA1,synonymous_variant,p.=,ENST00000319551,NM_032534.3;KRBA1,synonymous_variant,p.=,ENST00000496259,NM_001290187.1;KRBA1,synonymous_variant,p.=,ENST00000485033,;KRBA1,downstream_gene_variant,,ENST00000467333,;KRBA1,downstream_gene_variant,,ENST00000486744,;KRBA1,downstream_gene_variant,,ENST00000497895,;KRBA1,synonymous_variant,p.=,ENST00000621069,;KRBA1,non_coding_transcript_exon_variant,,ENST00000496080,;	C	ENST00000496259	Transcript	synonymous_variant	971/3763	927/3195	309/1064	C	tgT/tgC		1		1	KRBA1	HGNC	HGNC:22228	protein_coding	YES	CCDS78285.1	ENSP00000418647		A0A0C4DH65	UPI0003F48BD7	NM_001290187.1			8/17		Pfam_domain:PF15287,hmmpanther:PTHR22740,SMART_domains:SM01258																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	42	149723786	149723786	T	C	1	0	0	0	0	0	0	0	1	8319	1673	58	5		5	KRBA1	7	149723786	Silent	SNP	T	C3N-00203_TP	7525130	149723786	9622187	226	12174											
CRYGN	0	.	GRCh38	chr7	151436245	151436245	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcccctgctctggaggaaGgggctgtcctccaggaactc	7	7	13	14	0	1	0	0	0	1	0	4	3	3	3	4	5	3	2	4	5	2	0	rs781681564		C3N-00203_TP	C3N-00203_NB	G	G																c.351C>G	p.=	p.P117P	ENST00000337323	3/4	86	75	11	46	46	0	strelka-varscan-mutect	CRYGN,synonymous_variant,p.=,ENST00000337323,NM_144727.1;CRYGN,intron_variant,,ENST00000491928,NM_001308292.1;MIR3907,upstream_gene_variant,,ENST00000579424,;RP4-555L14.4,intron_variant,,ENST00000465549,;CRYGN,non_coding_transcript_exon_variant,,ENST00000476631,;CRYGN,non_coding_transcript_exon_variant,,ENST00000462809,;CRYGN,non_coding_transcript_exon_variant,,ENST00000478106,;	C	ENST00000337323	Transcript	synonymous_variant	478/754	351/549	117/182	P	ccC/ccG	rs781681564	1		-1	CRYGN	HGNC	HGNC:20458	protein_coding	YES	CCDS5926.1	ENSP00000338613	Q8WXF5	A0A090N8I5	UPI000006F59A	NM_144727.1			3/4		PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF22,Gene3D:2.60.20.10,Pfam_domain:PF00030,Superfamily_domains:SSF49695																	LOW	1	SNV	1			1										PASS		rs781681564	.												C	2	2	42	151436245	151436245	G	C	1	0	0	0	0	0	0	0	1	3720	987	35	4		4	CRYGN	7	151436245	Silent	SNP	G	C3N-00203_TP	1712459	151436245	7909728	227	12175											
MNX1	0	.	GRCh38	chr7	157005848	157005848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcgtttccatttcatcCgccggttctggaaccaaatc	7	13	8	13	3	2	0	1	0	1	0	5	1	4	1	4	2	3	3	4	2	2	3			C3N-00203_TP	C3N-00203_NB	C	C																c.878G>C	p.Arg293Pro	p.R293P	ENST00000252971	3/3	612	523	89	309	309	0	strelka-varscan-mutect	MNX1,missense_variant,p.Arg293Pro,ENST00000252971,NM_005515.3;MNX1,missense_variant,p.Arg81Pro,ENST00000543409,NM_001165255.1;MNX1,missense_variant,p.Arg81Pro,ENST00000428439,;MNX1,synonymous_variant,p.=,ENST00000425745,;MNX1,intron_variant,,ENST00000469500,;MNX1,intron_variant,,ENST00000479817,;MNX1-AS1,upstream_gene_variant,,ENST00000480284,;MNX1-AS2,upstream_gene_variant,,ENST00000429228,;MNX1,3_prime_UTR_variant,,ENST00000474448,;MNX1,downstream_gene_variant,,ENST00000605400,;	G	ENST00000252971	Transcript	missense_variant	1179/2174	878/1206	293/401	R/P	cGg/cCg	CM003828,COSM5005014,COSM5005015	1		-1	MNX1	HGNC	HGNC:4979	protein_coding	YES	CCDS34788.1	ENSP00000252971	P50219		UPI000020E726	NM_005515.3	deleterious(0)		3/3		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50071,hmmpanther:PTHR24335,PROSITE_patterns:PS00027,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024											0,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												G	3	3	42	157005848	157005848	C	G	1	0	0	0	0	1	0	0	0	9643	652	23	4		4	MNX1	7	157005848	Missense_Mutation	SNP	C	C3N-00203_TP	5569603	157005848	2340125	228	12176											
PRSS55	0	.	GRCh38	chr8	10538753	10538753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcctggctcctgctctGtcccctgtcccatgtgttgt	3	14	9	15	0	1	1	0	0	1	1	5	1	5	1	5	1	1	3	5	1	0	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1019G>A	p.Cys340Tyr	p.C340Y	ENST00000328655	5/5	55	43	12	88	88	0	strelka-varscan-mutect	PRSS55,missense_variant,p.Cys340Tyr,ENST00000328655,NM_198464.3;PRSS51,intron_variant,,ENST00000637190,;PRSS55,intron_variant,,ENST00000522210,NM_001197020.1;PRSS55,intron_variant,,ENST00000518641,;PRSS51,intron_variant,,ENST00000523024,;	A	ENST00000328655	Transcript	missense_variant	1059/1124	1019/1059	340/352	C/Y	tGt/tAt		1		1	PRSS55	HGNC	HGNC:30824	protein_coding	YES	CCDS5976.1	ENSP00000333003	Q6UWB4		UPI0000160C84	NM_198464.3	tolerated(0.36)		5/5																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	10538753	10538753	G	A	1	0	0	0	0	1	0	0	0	12783	1377	48	3		3	PRSS55	8	10538753	Missense_Mutation	SNP	G	C3N-00203_TP		10538753	134599883	229	12177											
PCM1	0	.	GRCh38	chr8	17960100	17960100	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaagacaccaagcaaaaTtcaaataacactagaggaaa	23	4	7	7	0	1	3	1	0	0	3	1	5	1	4	1	1	2	1	1	1	9	3	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.2127T>C	p.=	p.N709N	ENST00000325083	14/39	151	126	25	168	168	0	strelka-varscan-mutect	PCM1,synonymous_variant,p.=,ENST00000327578,NM_001315508.1;PCM1,synonymous_variant,p.=,ENST00000325083,NM_006197.3;PCM1,synonymous_variant,p.=,ENST00000519253,;PCM1,synonymous_variant,p.=,ENST00000524226,;PCM1,synonymous_variant,p.=,ENST00000517730,;PCM1,downstream_gene_variant,,ENST00000518537,;PCM1,non_coding_transcript_exon_variant,,ENST00000518762,;PCM1,non_coding_transcript_exon_variant,,ENST00000517836,;PCM1,upstream_gene_variant,,ENST00000524356,;	C	ENST00000325083	Transcript	synonymous_variant	2566/6820	2127/6075	709/2024	N	aaT/aaC		1		1	PCM1	HGNC	HGNC:8727	protein_coding	YES	CCDS47812.1	ENSP00000327077	Q15154		UPI0000210A25	NM_006197.3			14/39		hmmpanther:PTHR14164,hmmpanther:PTHR14164:SF12																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	42	17960100	17960100	T	C	1	0	0	0	0	0	0	0	1	11672	1490	52	5		5	PCM1	8	17960100	Silent	SNP	T	C3N-00203_TP	7421347	17960100	127178536	230	12178											
EBF2	0	.	GRCh38	chr8	25850616	25850616	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatccatttccattgccGctggagcaggcaggtgaagg	9	9	13	10	1	0	2	0	2	0	0	2	3	2	3	3	4	2	3	3	4	2	2	rs751209442		C3N-00203_TP	C3N-00203_NB	G	G																c.1674C>G	p.Ser558Arg	p.S558R	ENST00000520164	15/16	51	41	10	72	72	0	strelka-varscan-mutect	EBF2,missense_variant,p.Ser558Arg,ENST00000520164,NM_022659.3;EBF2,missense_variant,p.Ser410Arg,ENST00000408929,;EBF2,3_prime_UTR_variant,,ENST00000535548,;	C	ENST00000520164	Transcript	missense_variant	2212/5145	1674/1728	558/575	S/R	agC/agG	rs751209442,COSM3899132,COSM3899133	1		-1	EBF2	HGNC	HGNC:19090	protein_coding	YES	CCDS43726.1	ENSP00000430241	Q9HAK2		UPI0000DD7EC9	NM_022659.3	tolerated_low_confidence(0.21)		15/16		hmmpanther:PTHR10747											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs751209442	.												C	3	2	42	25850616	25850616	G	C	1	0	0	0	0	1	0	0	0	4705	1078	38	4		4	EBF2	8	25850616	Missense_Mutation	SNP	G	C3N-00203_TP	7890516	25850616	119288020	231	12179											
ADAM18	0	.	GRCh38	chr8	39668063	39668063	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgattttacagagtactgCaatggaacctctagtaattg	12	14	9	6	0	1	2	0	1	1	1	1	3	1	3	1	1	4	3	1	1	6	6	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1392C>G	p.Cys464Trp	p.C464W	ENST00000265707	14/20	427	366	61	314	314	0	strelka-varscan-mutect	ADAM18,missense_variant,p.Cys464Trp,ENST00000265707,NM_014237.2;ADAM18,missense_variant,p.Cys440Trp,ENST00000379866,NM_001320313.1;ADAM18,3_prime_UTR_variant,,ENST00000520087,;	G	ENST00000265707	Transcript	missense_variant	1437/2388	1392/2220	464/739	C/W	tgC/tgG		1		1	ADAM18	HGNC	HGNC:196	protein_coding	YES	CCDS6113.1	ENSP00000265707	Q9Y3Q7		UPI00001254D7	NM_014237.2	deleterious(0)		14/20		Gene3D:4.10.70.10,Pfam_domain:PF00200,PROSITE_profiles:PS50214,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF158,SMART_domains:SM00050,Superfamily_domains:SSF57552																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	42	39668063	39668063	C	G	1	0	0	0	0	1	0	0	0	283	718	25	4		4	ADAM18	8	39668063	Missense_Mutation	SNP	C	C3N-00203_TP	13817447	39668063	105470573	232	12180											
ANK1	0	.	GRCh38	chr8	41696483	41696483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggcggcaggtgatgcggGtgggcgctgcgcacgtccgt	4	6	19	12	6	0	1	0	1	0	0	1	1	1	1	2	5	2	3	2	5	0	0	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.2963C>A	p.Thr988Asn	p.T988N	ENST00000265709	27/43	380	341	39	356	356	0	strelka-varscan-mutect	ANK1,missense_variant,p.Thr947Asn,ENST00000289734,NM_000037.3;ANK1,missense_variant,p.Thr947Asn,ENST00000347528,NM_020476.2,NM_020475.2,NM_020477.2;ANK1,missense_variant,p.Thr988Asn,ENST00000265709,NM_001142446.1;ANK1,missense_variant,p.Thr269Asn,ENST00000520299,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,upstream_gene_variant,,ENST00000524069,;	T	ENST00000265709	Transcript	missense_variant	3245/6379	2963/5694	988/1897	T/N	aCc/aAc		1		-1	ANK1	HGNC	HGNC:492	protein_coding	YES	CCDS47849.1	ENSP00000265709	P16157		UPI0000E4453A	NM_001142446.1	deleterious(0)		27/43		Pfam_domain:PF00791,PROSITE_profiles:PS51145,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF20,SMART_domains:SM00218																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	41696483	41696483	G	T	1	0	0	0	0	1	0	0	0	720	1261	44	2		2	ANK1	8	41696483	Missense_Mutation	SNP	G	C3N-00203_TP	2028420	41696483	103442153	233	12181											
C8orf22	0	.	GRCh38	chr8	49074121	49074121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgttaacttcatagatgacGacaaaccacagcaaggtact	15	9	7	10	1	1	2	1	1	0	1	1	3	1	2	1	1	4	3	1	1	5	4			C3N-00203_TP	C3N-00203_NB	G	G																c.118G>A	p.Asp40Asn	p.D40N	ENST00000303202	3/5	196	169	27	237	237	0	strelka-varscan-mutect	C8orf22,missense_variant,p.Asp40Asn,ENST00000303202,NM_001256598.1;C8orf22,missense_variant,p.Asp40Asn,ENST00000399653,NM_001007176.4;C8orf22,missense_variant,p.Asp40Asn,ENST00000517663,NM_001256596.1;C8orf22,missense_variant,p.Asp40Asn,ENST00000522267,NM_001256597.1;	A	ENST00000303202	Transcript	missense_variant	291/1499	118/255	40/84	D/N	Gac/Aac	COSM243409	1		1	C8orf22	HGNC	HGNC:31745	protein_coding	YES	CCDS59101.1	ENSP00000304926	Q8WWR9		UPI0000070316	NM_001256598.1	tolerated(0.06)		3/5		hmmpanther:PTHR14572:SF1,hmmpanther:PTHR14572,Pfam_domain:PF15060											1						MODERATE	1	SNV	1		1	1										PASS		rs1212695465	.												A	3	1	42	49074121	49074121	G	A	1	0	0	0	0	1	0	0	0	2153	1058	37	1		1	C8orf22	8	49074121	Missense_Mutation	SNP	G	C3N-00203_TP	7377638	49074121	96064515	234	12182											
TCEA1	0	.	GRCh38	chr8	54010493	54010493	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatccaatgctccagcCtataaaataaaataatttca	19	10	3	9	0	1	0	1	0	0	0	3	0	3	0	3	0	3	2	3	0	8	5	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.64-1G>C		p.X22_splice	ENST00000521604		214	153	61	221	221	0	strelka-varscan-mutect	TCEA1,splice_acceptor_variant,,ENST00000521604,NM_006756.3;TCEA1,splice_acceptor_variant,,ENST00000522635,;TCEA1,splice_acceptor_variant,,ENST00000520534,;TCEA1,splice_acceptor_variant,,ENST00000518784,;TCEA1,intron_variant,,ENST00000396401,NM_201437.2;TCEA1,splice_acceptor_variant,,ENST00000521086,;TCEA1,splice_acceptor_variant,,ENST00000522397,;TCEA1,splice_acceptor_variant,,ENST00000521836,;TCEA1,splice_acceptor_variant,,ENST00000517351,;TCEA1,splice_acceptor_variant,,ENST00000518310,;TCEA1,splice_acceptor_variant,,ENST00000519704,;	G	ENST00000521604	Transcript	splice_acceptor_variant	-/2858	64/906	22/301				1		-1	TCEA1	HGNC	HGNC:11612	protein_coding	YES	CCDS47858.1	ENSP00000428426	P23193		UPI0000136ABE	NM_006756.3				1/9																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	42	54010493	54010493	C	G	1	0	0	0	0	0	0	1	0	16074	695	24	4		4	TCEA1	8	54010493	Splice_Site	SNP	C	C3N-00203_TP	4936372	54010493	91128143	235	12183											
PREX2	0	.	GRCh38	chr8	68109451	68109451	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtacattcagcacaccAtcacaaccatggcggcccct	10	8	8	15	1	2	0	2	0	0	0	2	0	2	0	4	3	3	2	4	3	2	2	rs760875810		C3N-00203_TP	C3N-00203_NB	A	A																c.2974A>T	p.Ile992Phe	p.I992F	ENST00000288368	25/40	226	201	25	197	197	0	strelka-varscan-mutect	PREX2,missense_variant,p.Ile992Phe,ENST00000288368,NM_024870.2;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,downstream_gene_variant,,ENST00000529398,;	T	ENST00000288368	Transcript	missense_variant	3251/10750	2974/4821	992/1606	I/F	Atc/Ttc	rs760875810	1		1	PREX2	HGNC	HGNC:22950	protein_coding	YES	CCDS6201.1	ENSP00000288368	Q70Z35		UPI0000375435	NM_024870.2	tolerated_low_confidence(0.05)		25/40		hmmpanther:PTHR22829:SF1,hmmpanther:PTHR22829																	MODERATE	1	SNV	1			1										PASS		rs760875810	.												T	3	4	42	68109451	68109451	A	T	1	0	0	0	0	1	0	0	0	12611	217	8	4		4	PREX2	8	68109451	Missense_Mutation	SNP	A	C3N-00203_TP	14098958	68109451	77029185	236	12184											
KCNB2	0	.	GRCh38	chr8	72567752	72567752	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaatggcagaaaaggctccCccgggcttaaacaggaagac	16	4	11	10	1	0	2	0	0	0	2	1	3	1	3	2	4	1	3	2	4	7	1			C3N-00203_TP	C3N-00203_NB	C	C																c.18C>A	p.=	p.P6P	ENST00000523207	2/3	60	51	9	47	47	0	strelka-varscan-mutect	KCNB2,synonymous_variant,p.=,ENST00000523207,NM_004770.2;	A	ENST00000523207	Transcript	synonymous_variant	606/3582	18/2736	6/911	P	ccC/ccA	COSM4957828	1		1	KCNB2	HGNC	HGNC:6232	protein_coding	YES	CCDS6209.1	ENSP00000430846	Q92953		UPI000012DC85	NM_004770.2			2/3													1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	42	72567752	72567752	C	A	1	0	0	0	0	0	0	0	1	7929	610	22	2		2	KCNB2	8	72567752	Silent	SNP	C	C3N-00203_TP	4458301	72567752	72570884	237	12185											
ZBTB10	0	.	GRCh38	chr8	80499519	80499519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaataccatcagaggaggGgtactgtgactttaatagta	15	10	11	5	0	1	3	1	1	0	2	1	4	1	4	1	3	2	2	1	3	6	6	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.998G>T	p.Gly333Val	p.G333V	ENST00000430430	3/7	105	86	19	100	100	0	strelka-varscan-mutect	ZBTB10,missense_variant,p.Gly333Val,ENST00000430430,;ZBTB10,missense_variant,p.Gly333Val,ENST00000426744,NM_023929.4;ZBTB10,missense_variant,p.Gly333Val,ENST00000455036,NM_001105539.2;ZBTB10,missense_variant,p.Gly160Val,ENST00000610895,;ZBTB10,missense_variant,p.Gly41Val,ENST00000379091,NM_001277145.1;	T	ENST00000430430	Transcript	missense_variant	1777/10132	998/2616	333/871	G/V	gGg/gTg		1		1	ZBTB10	HGNC	HGNC:30953	protein_coding	YES	CCDS47880.1	ENSP00000387462	Q96DT7		UPI0000E5AEF3		tolerated(0.08)		3/7		hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF27																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	42	80499519	80499519	G	T	1	0	0	0	0	1	0	0	0	18089	1232	43	2		2	ZBTB10	8	80499519	Missense_Mutation	SNP	G	C3N-00203_TP	7931767	80499519	64639117	238	12186											
DCAF4L2	0	.	GRCh38	chr8	87873841	87873841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgcagctcgcgagctataCggcaatagttggcgaatctg	10	8	12	11	5	1	0	0	0	1	0	2	2	1	0	0	2	3	5	0	2	5	4	rs780860993		C3N-00203_TP	C3N-00203_NB	C	C																c.131G>T	p.Arg44Leu	p.R44L	ENST00000319675	1/1	479	428	51	385	385	0	strelka-varscan-mutect	DCAF4L2,missense_variant,p.Arg44Leu,ENST00000319675,NM_152418.3;	A	ENST00000319675	Transcript	missense_variant	228/3326	131/1188	44/395	R/L	cGt/cTt	rs780860993	1		-1	DCAF4L2	HGNC	HGNC:26657	protein_coding	YES	CCDS6245.1	ENSP00000316496	Q8NA75		UPI0000072860	NM_152418.3	deleterious(0)		1/1		hmmpanther:PTHR22847:SF457,hmmpanther:PTHR22847																	MODERATE	1	SNV				1										PASS		rs780860993	.												A	3	1	42	87873841	87873841	C	A	1	0	0	0	0	1	0	0	0	4073	536	19	1		1	DCAF4L2	8	87873841	Missense_Mutation	SNP	C	C3N-00203_TP	7374322	87873841	57264795	239	12187											
CDH17	0	.	GRCh38	chr8	94151959	94151959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactttcgcttggaatacgtGttgggaaaattgaggtgctt	9	14	13	5	2	0	1	0	1	0	0	1	4	0	3	0	3	2	3	0	3	4	6	rs769518455		C3N-00203_TP	C3N-00203_NB	G	G																c.1705C>A	p.His569Asn	p.H569N	ENST00000027335	13/18	530	482	48	428	428	0	strelka-varscan-mutect	CDH17,missense_variant,p.His569Asn,ENST00000027335,NM_004063.3;CDH17,missense_variant,p.His569Asn,ENST00000450165,NM_001144663.1;CDH17,missense_variant,p.His355Asn,ENST00000441892,;CDH17,intron_variant,,ENST00000520952,;	T	ENST00000027335	Transcript	missense_variant	1830/3693	1705/2499	569/832	H/N	Cac/Aac	rs769518455	1		-1	CDH17	HGNC	HGNC:1756	protein_coding	YES	CCDS6260.1	ENSP00000027335	Q12864		UPI000013C546	NM_004063.3	tolerated(0.51)		13/18		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF292,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs769518455	.												T	3	4	42	94151959	94151959	G	T	1	0	0	0	0	1	0	0	0	2805	1377	48	2		2	CDH17	8	94151959	Missense_Mutation	SNP	G	C3N-00203_TP	6278118	94151959	50986677	240	12188											
RIMS2	0	.	GRCh38	chr8	103885929	103885929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaggagtccactacccataGatagaccagacttgaggcgt	12	7	12	10	1	0	4	0	1	0	3	1	6	1	6	3	3	1	0	3	3	3	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1330G>A	p.Asp444Asn	p.D444N	ENST00000504942	4/24	350	323	27	250	250	0	strelka-varscan-mutect	RIMS2,missense_variant,p.Asp252Asn,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Asp222Asn,ENST00000436393,;RIMS2,missense_variant,p.Asp444Asn,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Asp386Asn,ENST00000626043,;RIMS2,missense_variant,p.Asp252Asn,ENST00000408894,;RIMS2,missense_variant,p.Asp252Asn,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Asp448Asn,ENST00000632716,;RIMS2,missense_variant,p.Asp252Asn,ENST00000515551,;	A	ENST00000504942	Transcript	missense_variant	1469/4228	1330/4050	444/1349	D/N	Gat/Aat		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0.01)		4/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	42	103885929	103885929	G	A	1	0	0	0	0	1	0	0	0	13543	942	33	3		3	RIMS2	8	103885929	Missense_Mutation	SNP	G	C3N-00203_TP	9733970	103885929	41252707	241	12189											
ZFPM2	0	.	GRCh38	chr8	105801345	105801345	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaccagaagcgaacttccCcagagccaaaaggccatgca	14	5	9	13	1	0	3	0	1	0	2	1	4	1	3	5	1	4	1	5	1	4	2	rs768549497		C3N-00203_TP	C3N-00203_NB	C	C																c.1263C>A	p.=	p.P421P	ENST00000407775	8/8	736	416	320	504	503	1	strelka-varscan-mutect	ZFPM2,synonymous_variant,p.=,ENST00000407775,NM_012082.3;ZFPM2,synonymous_variant,p.=,ENST00000520492,;ZFPM2,synonymous_variant,p.=,ENST00000517361,;ZFPM2-AS1,intron_variant,,ENST00000524045,;ZFPM2-AS1,intron_variant,,ENST00000520433,;ZFPM2-AS1,intron_variant,,ENST00000518932,;ZFPM2-AS1,intron_variant,,ENST00000520594,;ZFPM2-AS1,intron_variant,,ENST00000509144,;ZFPM2-AS1,intron_variant,,ENST00000521622,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;ZFPM2-AS1,intron_variant,,ENST00000520078,;	A	ENST00000407775	Transcript	synonymous_variant	1513/4700	1263/3456	421/1151	P	ccC/ccA	rs768549497	1		1	ZFPM2	HGNC	HGNC:16700	protein_coding	YES	CCDS47908.1	ENSP00000384179	Q8WW38		UPI000057A0B4	NM_012082.3			8/8		hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5																	LOW	1	SNV	1			1										PASS		rs768549497	.												A	2	1	42	105801345	105801345	C	A	1	0	0	0	0	0	0	0	1	18236	610	22	2		2	ZFPM2	8	105801345	Silent	SNP	C	C3N-00203_TP	1915416	105801345	39337291	242	12190											
PKHD1L1	0	.	GRCh38	chr8	109459692	109459692	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactaaattacacacacttaGgaattacggtcacactccct	14	10	4	13	1	1	0	1	0	0	0	2	1	2	1	1	2	2	0	1	2	6	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.7102G>T	p.Gly2368Ter	p.G2368*	ENST00000378402	47/78	307	277	30	286	286	0	strelka-varscan-mutect	PKHD1L1,stop_gained,p.Gly2368Ter,ENST00000378402,NM_177531.4;	T	ENST00000378402	Transcript	stop_gained	7206/13076	7102/12732	2368/4243	G/*	Gga/Tga		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4			47/78																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	42	109459692	109459692	G	T	1	0	0	0	0	0	1	0	0	12068	1001	35	2		2	PKHD1L1	8	109459692	Nonsense_Mutation	SNP	G	C3N-00203_TP	3658347	109459692	35678944	243	12191											
CSMD3	0	.	GRCh38	chr8	112306035	112306035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggggtcttgttatgattGctccatgttccatctgattg	6	16	11	8	1	2	2	0	2	2	0	4	3	4	2	2	2	1	3	2	2	1	5	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.8043C>A	p.Ser2681Arg	p.S2681R	ENST00000297405	51/71	350	232	118	327	327	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Ser2681Arg,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Ser2641Arg,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Ser2577Arg,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Ser1951Arg,ENST00000339701,;CSMD3,downstream_gene_variant,,ENST00000492692,;	T	ENST00000297405	Transcript	missense_variant	8288/13212	8043/11124	2681/3707	S/R	agC/agA		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		51/71		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	112306035	112306035	G	T	1	0	0	0	0	1	0	0	0	3747	1310	46	2		2	CSMD3	8	112306035	Missense_Mutation	SNP	G	C3N-00203_TP	2846343	112306035	32832601	244	12192											
CSMD3	0	.	GRCh38	chr8	112682628	112682628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcagggcattcattatGtccaaatgctttagaataat	14	13	8	6	0	2	1	2	0	0	1	3	2	3	2	1	2	1	2	1	2	5	5	rs775939123		C3N-00203_TP	C3N-00203_NB	G	G																c.2491C>A	p.His831Asn	p.H831N	ENST00000297405	16/71	223	207	16	256	255	1	strelka-varscan-mutect	CSMD3,missense_variant,p.His831Asn,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.His791Asn,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.His727Asn,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.His171Asn,ENST00000339701,;	T	ENST00000297405	Transcript	missense_variant	2736/13212	2491/11124	831/3707	H/N	Cat/Aat	rs775939123,COSM1551627,COSM1551628	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0.02)		16/71		Superfamily_domains:SSF49854											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs775939123	.												T	3	4	42	112682628	112682628	G	T	1	0	0	0	0	1	0	0	0	3747	1377	48	2		2	CSMD3	8	112682628	Missense_Mutation	SNP	G	C3N-00203_TP	376593	112682628	32456008	245	12193											
CSMD3	0	.	GRCh38	chr8	112689878	112689878	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtactcacagatacagatGggtatgtttgcagaccattg	11	12	11	7	0	1	3	1	0	0	3	1	3	1	3	1	2	3	4	1	2	3	5	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.2145C>A	p.=	p.P715P	ENST00000297405	14/71	171	160	11	185	185	0	strelka-varscan-mutect	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000455883,NM_052900.2;CSMD3,synonymous_variant,p.=,ENST00000339701,;	T	ENST00000297405	Transcript	synonymous_variant	2390/13212	2145/11124	715/3707	P	ccC/ccA		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			14/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF49854																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	42	112689878	112689878	G	T	1	0	0	0	0	0	0	0	1	3747	1335	47	2		2	CSMD3	8	112689878	Silent	SNP	G	C3N-00203_TP	7250	112689878	32448758	246	12194											
ZFAT	0	.	GRCh38	chr8	134520905	134520906	+	Frame_Shift_Ins	INS	-	-	T																															ccacttggggtctccatcaaINStttccaccaccttcaagcca																								novel		C3N-00203_TP	C3N-00203_NB	-	-																c.3211dupA	p.Ile1071AsnfsTer2	p.I1071Nfs*2	ENST00000377838	13/16	220	200	20	131	131	0	varindel-pindel	ZFAT,frameshift_variant,p.Ile1059AsnfsTer2,ENST00000520727,NM_001029939.3,NM_001289394.1;ZFAT,frameshift_variant,p.Ile1071AsnfsTer2,ENST00000377838,NM_020863.3;ZFAT,frameshift_variant,p.Ile1059AsnfsTer2,ENST00000429442,;ZFAT,frameshift_variant,p.Ile1059AsnfsTer2,ENST00000520214,NM_001167583.2;ZFAT,frameshift_variant,p.Ile1059AsnfsTer2,ENST00000520356,NM_001174158.1;ZFAT,frameshift_variant,p.Ile1009AsnfsTer2,ENST00000523399,NM_001174157.1;ZFAT,non_coding_transcript_exon_variant,,ENST00000517307,;ZFAT,3_prime_UTR_variant,,ENST00000523243,;ZFAT,3_prime_UTR_variant,,ENST00000523924,;ZFAT,non_coding_transcript_exon_variant,,ENST00000518408,;	T	ENST00000377838	Transcript	frameshift_variant	3386-3387/4597	3211-3212/3732	1071/1243	I/NX	att/aAtt		1		-1	ZFAT	HGNC	HGNC:19899	protein_coding	YES	CCDS47924.1	ENSP00000367069	Q9P243		UPI0000210061	NM_020863.3			13/16		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF218																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	42	134520905	134520905	-	T	1	0	1	1	0	0	0	0	0	18209	101	4	0		0	ZFAT	8	134520905	Frame_Shift_Ins	INS	-	C3N-00203_TP	21831027	134520905	10617731	247	12195											
FAM135B	0	.	GRCh38	chr8	138152671	138152671	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaagagatggcattttGgtggcttccacctactacca	9	12	10	10	0	1	2	0	1	1	1	2	3	2	2	3	3	2	2	3	3	3	5			C3N-00203_TP	C3N-00203_NB	G	G																c.1804C>T	p.Gln602Ter	p.Q602*	ENST00000395297	13/20	233	124	109	188	188	0	strelka-varscan-mutect	FAM135B,stop_gained,p.Gln602Ter,ENST00000395297,NM_015912.3;FAM135B,stop_gained,p.Gln602Ter,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000467365,;FAM135B,upstream_gene_variant,,ENST00000395295,;	A	ENST00000395297	Transcript	stop_gained	1975/6962	1804/4221	602/1406	Q/*	Caa/Taa	COSM749144,COSM749145	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3			13/20													1,1						HIGH	1	SNV	5		1,1	1										PASS		.	.												A	4	1	42	138152671	138152671	G	A	1	0	0	0	0	0	1	0	0	5299	1357	47	3		3	FAM135B	8	138152671	Nonsense_Mutation	SNP	G	C3N-00203_TP	3631766	138152671	6985965	248	12196											
DMRT3	0	.	GRCh38	chr9	990149	990149	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatgtggcaaagagtaaggGctgcttcacccctgagagcc	11	7	13	10	0	1	3	1	1	0	3	1	4	1	3	3	2	2	4	3	2	2	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.563G>C	p.Gly188Ala	p.G188A	ENST00000190165	2/2	223	171	52	236	236	0	strelka-varscan-mutect	DMRT3,missense_variant,p.Gly188Ala,ENST00000190165,NM_021240.3;DMRT3,missense_variant,p.Gly51Ala,ENST00000417254,;	C	ENST00000190165	Transcript	missense_variant	601/2183	563/1419	188/472	G/A	gGc/gCc		1		1	DMRT3	HGNC	HGNC:13909	protein_coding	YES	CCDS6443.1	ENSP00000190165	Q9NQL9		UPI0000073634	NM_021240.3	tolerated(0.2)		2/2		hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF73																	MODERATE	1	SNV	1			1										PASS		rs1189691657	.												C	3	2	42	990149	990149	G	C	1	0	0	0	0	1	0	0	0	4394	1203	42	4		4	DMRT3	9	990149	Missense_Mutation	SNP	G	C3N-00203_TP		990149	137404568	249	12197											
KCNV2	0	.	GRCh38	chr9	2718467	2718467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttctacggcccgcagcGgcgccgcctctggaacctca	5	6	12	18	6	3	0	1	0	2	0	3	1	3	1	4	3	3	2	4	3	2	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.728G>A	p.Arg243Gln	p.R243Q	ENST00000382082	1/2	205	164	41	124	124	0	strelka-varscan-mutect	KCNV2,missense_variant,p.Arg243Gln,ENST00000382082,NM_133497.3;PUM3,downstream_gene_variant,,ENST00000490444,;	A	ENST00000382082	Transcript	missense_variant	966/2186	728/1638	243/545	R/Q	cGg/cAg		1		1	KCNV2	HGNC	HGNC:19698	protein_coding	YES	CCDS6447.1	ENSP00000371514	Q8TDN2		UPI0000048D8E	NM_133497.3	deleterious(0.03)		1/2		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF40,Gene3D:1.20.120.350																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	2718467	2718467	G	A	1	0	0	0	0	1	0	0	0	8011	1116	39	1		1	KCNV2	9	2718467	Missense_Mutation	SNP	G	C3N-00203_TP	1728318	2718467	135676250	250	12198											
ARID3C	0	.	GRCh38	chr9	34623913	34623913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggtgggtaggctgaGgccgcgcgtgacttcccgcc	4	8	18	11	4	0	2	0	2	0	0	1	3	1	2	3	5	0	2	3	5	1	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.526C>T	p.Leu176Phe	p.L176F	ENST00000378909	3/7	196	162	34	138	138	0	strelka-varscan-mutect	ARID3C,missense_variant,p.Leu176Phe,ENST00000378909,NM_001017363.1;DCTN3,upstream_gene_variant,,ENST00000378913,;DCTN3,upstream_gene_variant,,ENST00000341694,NM_024348.3,NM_001281426.1;DCTN3,upstream_gene_variant,,ENST00000259632,NM_007234.4;DCTN3,upstream_gene_variant,,ENST00000378916,NM_001281425.1;DCTN3,upstream_gene_variant,,ENST00000477738,NM_001281427.1;DCTN3,upstream_gene_variant,,ENST00000421919,;DCTN3,upstream_gene_variant,,ENST00000378911,;	A	ENST00000378909	Transcript	missense_variant	619/1411	526/1239	176/412	L/F	Ctc/Ttc		1		-1	ARID3C	HGNC	HGNC:21209	protein_coding	YES	CCDS35006.1	ENSP00000368189	A6NKF2		UPI0000509F06	NM_001017363.1	deleterious(0)		3/7		Gene3D:1.10.150.60,Pfam_domain:PF01388,PROSITE_profiles:PS51011,hmmpanther:PTHR15348,hmmpanther:PTHR15348:SF2,SMART_domains:SM00501,SMART_domains:SM01014,Superfamily_domains:SSF46774																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	42	34623913	34623913	G	A	1	0	0	0	0	1	0	0	0	1054	1000	35	3		3	ARID3C	9	34623913	Missense_Mutation	SNP	G	C3N-00203_TP	31905446	34623913	103770804	251	12199											
CCIN	0	.	GRCh38	chr9	36169968	36169968	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacgtagcttactctggcAttcgggacaacttccactac	10	10	8	13	2	1	1	0	0	1	1	3	2	2	2	1	2	4	3	1	2	4	5	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.466A>T	p.Ile156Phe	p.I156F	ENST00000335119	1/1	283	247	36	241	241	0	strelka-varscan-mutect	CCIN,missense_variant,p.Ile156Phe,ENST00000335119,NM_005893.2;	T	ENST00000335119	Transcript	missense_variant	575/1941	466/1767	156/588	I/F	Att/Ttt		1		1	CCIN	HGNC	HGNC:1568	protein_coding	YES	CCDS6599.1	ENSP00000334996	Q13939	Q8WX35	UPI000006EB8E	NM_005893.2	deleterious(0.01)		1/1		hmmpanther:PTHR24412:SF163,hmmpanther:PTHR24412,Pfam_domain:PF07707,SMART_domains:SM00875																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	42	36169968	36169968	A	T	1	0	0	0	0	1	0	0	0	2576	217	8	4		4	CCIN	9	36169968	Missense_Mutation	SNP	A	C3N-00203_TP	1546055	36169968	102224749	252	12200											
ZBTB5	0	.	GRCh38	chr9	37441896	37441896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctgaaggcccattctccGgtgtaacatctgaaatggca	10	9	9	13	1	2	2	0	2	2	0	3	2	2	2	4	3	1	2	4	3	3	2			C3N-00203_TP	C3N-00203_NB	G	G																c.656C>T	p.Pro219Leu	p.P219L	ENST00000307750	2/2	224	177	47	169	168	1	strelka-varscan-mutect	ZBTB5,missense_variant,p.Pro219Leu,ENST00000307750,NM_014872.2;GRHPR,downstream_gene_variant,,ENST00000318158,NM_012203.1;GRHPR,downstream_gene_variant,,ENST00000497693,;GRHPR,downstream_gene_variant,,ENST00000480596,;GRHPR,downstream_gene_variant,,ENST00000494290,;	A	ENST00000307750	Transcript	missense_variant	845/4627	656/2034	219/677	P/L	cCg/cTg	COSM2775610	1		-1	ZBTB5	HGNC	HGNC:23836	protein_coding	YES	CCDS6610.1	ENSP00000307604	O15062	Q5T942	UPI000006FAE2	NM_014872.2	deleterious(0.01)		2/2													1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	42	37441896	37441896	G	A	1	0	0	0	0	1	0	0	0	18121	1116	39	1		1	ZBTB5	9	37441896	Missense_Mutation	SNP	G	C3N-00203_TP	1271928	37441896	100952821	253	12201											
CNTNAP3	0	.	GRCh38	chr9	39109213	39109213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aagctgcttcggaatgtggtCggcctgcgtctgtcatcaca	7	11	12	11	3	3	0	2	0	1	0	5	1	3	1	1	3	3	2	1	3	2	1	rs757220529		C3N-00203_TP	C3N-00203_NB	C	C																c.2312G>C	p.Arg771Pro	p.R771P	ENST00000297668	15/24	227	168	59	236	236	0	strelka-varscan-mutect	CNTNAP3,missense_variant,p.Arg771Pro,ENST00000297668,NM_033655.3;CNTNAP3,missense_variant,p.Arg770Pro,ENST00000377656,;CNTNAP3,missense_variant,p.Arg683Pro,ENST00000358144,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000495573,;CNTNAP3,intron_variant,,ENST00000448573,;CNTNAP3,3_prime_UTR_variant,,ENST00000443583,;	G	ENST00000297668	Transcript	missense_variant	2386/5064	2312/3867	771/1288	R/P	cGa/cCa	rs757220529,COSM1109164	1		-1	CNTNAP3	HGNC	HGNC:13834	protein_coding	YES	CCDS6616.1	ENSP00000297668	Q9BZ76		UPI000013E43B	NM_033655.3	deleterious(0)		15/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs757220529	.												G	3	3	42	39109213	39109213	C	G	1	0	0	0	0	1	0	0	0	3429	884	31	4		4	CNTNAP3	9	39109213	Missense_Mutation	SNP	C	C3N-00203_TP	1667317	39109213	99285504	254	12202											
SPATA31A3	0	.	GRCh38	chr9	66991076	66991076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctggcagagccttacctCtcagactgtggtttttcatc	6	14	9	12	0	3	2	2	0	2	2	5	2	3	2	2	2	2	3	2	2	1	3	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.245G>T	p.Arg82Ile	p.R82I	ENST00000428649	2/4	108	84	24	138	137	1	strelka-varscan-mutect	SPATA31A3,missense_variant,p.Arg82Ile,ENST00000428649,NM_001083124.1;RP11-395E19.2,downstream_gene_variant,,ENST00000616253,;	A	ENST00000428649	Transcript	missense_variant,splice_region_variant	307/4256	245/4044	82/1347	R/I	aGa/aTa		1		-1	SPATA31A3	HGNC	HGNC:32003	protein_coding	YES	CCDS78400.1	ENSP00000485118	Q5VYP0		UPI00004588FC	NM_001083124.1	deleterious(0)		2/4		Pfam_domain:PF15371,hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	66991076	66991076	C	A	1	0	0	0	0	1	0	0	0	15344	927	32	2		2	SPATA31A3	9	66991076	Missense_Mutation	SNP	C	C3N-00203_TP	27881863	66991076	71403641	255	12203											
DAPK1	0	.	GRCh38	chr9	87646495	87646495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attactcattgctgctggctGtgggaatattcaaatactac	11	14	8	8	0	2	0	2	0	0	0	2	1	2	1	0	2	5	3	0	2	6	6	rs570212877		C3N-00203_TP	C3N-00203_NB	G	G																c.1166G>T	p.Cys389Phe	p.C389F	ENST00000408954	13/26	282	220	62	229	229	0	strelka-varscan-mutect	DAPK1,missense_variant,p.Cys389Phe,ENST00000469640,;DAPK1,missense_variant,p.Cys389Phe,ENST00000408954,NM_004938.3;DAPK1,missense_variant,p.Cys389Phe,ENST00000622514,NM_001288729.1;DAPK1,missense_variant,p.Cys389Phe,ENST00000472284,NM_001288730.1;DAPK1,missense_variant,p.Cys389Phe,ENST00000358077,NM_001288731.1;DAPK1,missense_variant,p.Cys389Phe,ENST00000491893,;DAPK1,upstream_gene_variant,,ENST00000495281,;DAPK1,upstream_gene_variant,,ENST00000494010,;DAPK1,3_prime_UTR_variant,,ENST00000489291,;DAPK1,non_coding_transcript_exon_variant,,ENST00000469067,;DAPK1,upstream_gene_variant,,ENST00000475804,;	T	ENST00000408954	Transcript	missense_variant	1501/5892	1166/4293	389/1430	C/F	tGt/tTt	rs570212877	1		1	DAPK1	HGNC	HGNC:2674	protein_coding	YES	CCDS43842.1	ENSP00000386135	P53355		UPI0000210C2F	NM_004938.3	tolerated(0.65)		13/26		Gene3D:1.25.40.20,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF699,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	2			1										PASS		rs570212877	.												T	3	4	42	87646495	87646495	G	T	1	0	0	0	0	1	0	0	0	4036	1377	48	2		2	DAPK1	9	87646495	Missense_Mutation	SNP	G	C3N-00203_TP	20655419	87646495	50748222	256	12204											
TBC1D2	0	.	GRCh38	chr9	98255237	98255237	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcagcgtccgccttaCagtcaaacactgcactggag	9	8	8	16	2	2	0	2	0	0	0	4	1	4	1	4	1	4	1	4	1	2	1	rs550202423		C3N-00203_TP	C3N-00203_NB	C	C																c.305G>T	p.Cys102Phe	p.C102F	ENST00000465784	1/13	193	144	49	180	180	0	strelka-varscan-mutect	TBC1D2,missense_variant,p.Cys102Phe,ENST00000465784,NM_001267571.1;TBC1D2,missense_variant,p.Cys102Phe,ENST00000375066,NM_018421.3;TBC1D2,missense_variant,p.Cys102Phe,ENST00000375064,;TBC1D2,5_prime_UTR_variant,,ENST00000342112,;	A	ENST00000465784	Transcript	missense_variant	485/3349	305/2787	102/928	C/F	tGt/tTt	rs550202423	1		-1	TBC1D2	HGNC	HGNC:18026	protein_coding	YES	CCDS75865.1	ENSP00000481721	Q9BYX2		UPI000022D946	NM_001267571.1	tolerated(0.72)		1/13		PROSITE_profiles:PS50003,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		rs550202423	.												A	3	1	42	98255237	98255237	C	A	1	0	0	0	0	1	0	0	0	16008	478	17	2		2	TBC1D2	9	98255237	Missense_Mutation	SNP	C	C3N-00203_TP	10608742	98255237	40139480	257	12205											
ANKS6	0	.	GRCh38	chr9	98780228	98780228	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgggcagcactgggatgctCcagggctgtcggaccttcga	6	8	15	12	3	0	0	0	0	0	0	4	3	1	2	2	4	2	4	2	4	0	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1329G>T	p.Trp443Cys	p.W443C	ENST00000353234	6/15	326	247	79	295	294	1	strelka-varscan-mutect	ANKS6,missense_variant,p.Trp443Cys,ENST00000353234,NM_173551.3;ANKS6,missense_variant,p.Trp142Cys,ENST00000375019,;ANKS6,upstream_gene_variant,,ENST00000444472,;ANKS6,non_coding_transcript_exon_variant,,ENST00000634393,;ANKS6,downstream_gene_variant,,ENST00000486778,;ANKS6,downstream_gene_variant,,ENST00000466120,;	A	ENST00000353234	Transcript	missense_variant	1377/7164	1329/2616	443/871	W/C	tgG/tgT		1		-1	ANKS6	HGNC	HGNC:26724	protein_coding	YES	CCDS43856.1	ENSP00000297837	Q68DC2		UPI0000530317	NM_173551.3	tolerated(0.14)		6/15		hmmpanther:PTHR10627:SF39,hmmpanther:PTHR10627																	MODERATE	1	SNV	1			1										PASS		rs915544649	.												A	3	1	42	98780228	98780228	C	A	1	0	0	0	0	1	0	0	0	798	856	30	2		2	ANKS6	9	98780228	Missense_Mutation	SNP	C	C3N-00203_TP	524991	98780228	39614489	258	12206											
WHRN	0	.	GRCh38	chr9	114426215	114426215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcagagtggccagaccctgCcgagttcgccatggtctccc	7	7	12	15	2	1	2	0	0	1	2	3	3	1	2	5	2	2	2	5	2	0	1	rs774944578		C3N-00203_TP	C3N-00203_NB	C	C																c.1162G>C	p.Ala388Pro	p.A388P	ENST00000362057	4/12	399	354	45	317	317	0	strelka-varscan-mutect	WHRN,missense_variant,p.Ala388Pro,ENST00000362057,NM_015404.3,NM_001173425.1;WHRN,missense_variant,p.Ala5Pro,ENST00000265134,NM_001083885.2;WHRN,upstream_gene_variant,,ENST00000374059,;	G	ENST00000362057	Transcript	missense_variant	1331/3566	1162/2724	388/907	A/P	Gca/Cca	rs774944578	1		-1	WHRN	HGNC	HGNC:16361	protein_coding	YES	CCDS6806.1	ENSP00000354623		A0A0C4DFT9	UPI00003519A7	NM_015404.3,NM_001173425.1	tolerated(0.16)		4/12		hmmpanther:PTHR23116:SF37,hmmpanther:PTHR23116																	MODERATE	1	SNV	1			1										PASS		rs774944578	.												G	3	3	42	114426215	114426215	C	G	1	0	0	0	0	1	0	0	0	17919	753	26	4		4	WHRN	9	114426215	Missense_Mutation	SNP	C	C3N-00203_TP	15645987	114426215	23968502	259	12207											
TNC	0	.	GRCh38	chr9	115024124	115024124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatctgccattgtggtagGccatggagtcacctgggaga	9	9	15	8	0	2	1	1	0	1	1	2	4	2	3	3	5	1	1	3	5	1	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.6344C>A	p.Ala2115Asp	p.A2115D	ENST00000350763	27/28	85	73	12	44	44	0	strelka-varscan-mutect	TNC,missense_variant,p.Ala2115Asp,ENST00000350763,NM_002160.3;TNC,missense_variant,p.Ala1752Asp,ENST00000535648,;TNC,missense_variant,p.Ala1933Asp,ENST00000341037,;TNC,missense_variant,p.Ala1842Asp,ENST00000423613,;TNC,missense_variant,p.Ala1752Asp,ENST00000542877,;TNC,missense_variant,p.Ala1478Asp,ENST00000537320,;	T	ENST00000350763	Transcript	missense_variant	6756/7641	6344/6606	2115/2201	A/D	gCc/gAc		1		-1	TNC	HGNC	HGNC:5318	protein_coding	YES	CCDS6811.1	ENSP00000265131	P24821		UPI000013D5BD	NM_002160.3	deleterious(0.04)		27/28		PROSITE_profiles:PS51406,hmmpanther:PTHR19143:SF38,hmmpanther:PTHR19143,Gene3D:3.90.215.10,Pfam_domain:PF00147,SMART_domains:SM00186,Superfamily_domains:SSF56496																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	115024124	115024124	G	T	1	0	0	0	0	1	0	0	0	16744	1203	42	2		2	TNC	9	115024124	Missense_Mutation	SNP	G	C3N-00203_TP	597909	115024124	23370593	260	12208											
PAPPA	0	.	GRCh38	chr9	116211641	116211641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggatttccccttacaggtGgcattgtcttgaacccatct	7	14	8	12	0	2	1	0	1	2	0	3	2	3	2	3	3	2	1	3	3	2	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1627G>T	p.Gly543Cys	p.G543C	ENST00000328252	4/22	129	102	27	116	116	0	strelka-varscan-mutect	PAPPA,missense_variant,p.Gly543Cys,ENST00000328252,NM_002581.3;	T	ENST00000328252	Transcript	missense_variant,splice_region_variant	1996/10959	1627/4884	543/1627	G/C	Ggc/Tgc		1		1	PAPPA	HGNC	HGNC:8602	protein_coding	YES	CCDS6813.1	ENSP00000330658	Q13219		UPI00001E0589	NM_002581.3	deleterious(0)		4/22		Gene3D:3.40.390.10,Pfam_domain:PF05572,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	116211641	116211641	G	T	1	0	0	0	0	1	0	0	0	11512	1362	47	2		2	PAPPA	9	116211641	Missense_Mutation	SNP	G	C3N-00203_TP	1187517	116211641	22183076	261	12209											
ASTN2	0	.	GRCh38	chr9	117414584	117414584	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttacgcacaaagagcaggaGgcgcgactcggcggcggtgc	9	4	17	11	6	0	1	0	0	0	1	1	3	0	2	0	5	3	3	0	5	2	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.355C>G	p.Leu119Val	p.L119V	ENST00000361209	1/22	168	134	34	143	143	0	strelka-varscan-mutect	ASTN2,missense_variant,p.Leu119Val,ENST00000313400,;ASTN2,missense_variant,p.Leu119Val,ENST00000361209,NM_014010.4;ASTN2,5_prime_UTR_variant,,ENST00000361477,NM_198187.3;	C	ENST00000361209	Transcript	missense_variant	487/4622	355/3867	119/1288	L/V	Ctc/Gtc		1		-1	ASTN2	HGNC	HGNC:17021	protein_coding	YES	CCDS6815.1	ENSP00000354504	O75129		UPI00002116D7	NM_014010.4	deleterious_low_confidence(0)		1/22		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	117414584	117414584	G	C	1	0	0	0	0	1	0	0	0	1212	1000	35	4		4	ASTN2	9	117414584	Missense_Mutation	SNP	G	C3N-00203_TP	1202943	117414584	20980133	262	12210											
CDK5RAP2	0	.	GRCh38	chr9	120539040	120539040	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcaggatttccagacttgCcttttccaaaaggagtattc	10	13	7	11	0	1	1	1	0	0	1	4	3	3	3	4	2	1	1	4	2	3	6	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.507+1G>T		p.X169_splice	ENST00000349780		388	287	101	373	372	1	strelka-varscan-mutect	CDK5RAP2,splice_donor_variant,,ENST00000349780,NM_018249.5;CDK5RAP2,splice_donor_variant,,ENST00000360190,NM_001011649.2;CDK5RAP2,splice_donor_variant,,ENST00000360822,NM_001272039.1;CDK5RAP2,splice_donor_variant,,ENST00000472883,;CDK5RAP2,splice_donor_variant,,ENST00000473282,;CDK5RAP2,splice_donor_variant,,ENST00000480112,;CDK5RAP2,splice_donor_variant,,ENST00000481266,;CDK5RAP2,upstream_gene_variant,,ENST00000483412,;	A	ENST00000349780	Transcript	splice_donor_variant	-/6228	507/5682	169/1893				1		-1	CDK5RAP2	HGNC	HGNC:18672	protein_coding	YES	CCDS6823.1	ENSP00000343818	Q96SN8		UPI0000367673	NM_018249.5				6/37																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	42	120539040	120539040	C	A	1	0	0	0	0	0	0	1	0	2850	753	26	2		2	CDK5RAP2	9	120539040	Splice_Site	SNP	C	C3N-00203_TP	3124456	120539040	17855677	263	12211											
TTLL11	0	.	GRCh38	chr9	121870642	121870642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacctgcttgaggcaaaTggaaggcaggtgggcttcgg	10	7	16	8	1	0	1	0	1	0	0	1	3	0	2	1	6	2	4	1	6	3	2	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.1858A>G	p.Ile620Val	p.I620V	ENST00000321582	7/9	231	181	50	191	191	0	strelka-varscan-mutect	TTLL11,missense_variant,p.Ile620Val,ENST00000321582,NM_001139442.1;TTLL11,3_prime_UTR_variant,,ENST00000474723,;TTLL11,3_prime_UTR_variant,,ENST00000373778,;	C	ENST00000321582	Transcript	missense_variant	2046/3250	1858/2403	620/800	I/V	Att/Gtt		1		-1	TTLL11	HGNC	HGNC:18113	protein_coding	YES	CCDS48012.1	ENSP00000321346	Q8NHH1		UPI0000E0BF7B	NM_001139442.1	deleterious(0.02)		7/9		hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF107																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	42	121870642	121870642	T	C	1	0	0	0	0	1	0	0	0	17236	1464	51	5		5	TTLL11	9	121870642	Missense_Mutation	SNP	T	C3N-00203_TP	1331602	121870642	16524075	264	12212											
C9orf78	0	.	GRCh38	chr9	129828208	129828208	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcataatgatagtcatCagttgccttctcgttagcag	9	15	7	10	1	4	1	3	1	2	0	6	1	4	1	1	0	2	3	1	0	3	6	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.823G>T	p.Asp275Tyr	p.D275Y	ENST00000372447	9/9	281	257	24	255	255	0	strelka-varscan-mutect	C9orf78,missense_variant,p.Asp275Tyr,ENST00000372447,NM_016520.2;TOR1A,upstream_gene_variant,,ENST00000351698,NM_000113.2;C9orf78,non_coding_transcript_exon_variant,,ENST00000461349,;C9orf78,downstream_gene_variant,,ENST00000461762,;C9orf78,downstream_gene_variant,,ENST00000480023,;TOR1A,upstream_gene_variant,,ENST00000473084,;TOR1A,upstream_gene_variant,,ENST00000473604,;C9orf78,downstream_gene_variant,,ENST00000461539,;C9orf78,downstream_gene_variant,,ENST00000492991,;C9orf78,downstream_gene_variant,,ENST00000495934,;	A	ENST00000372447	Transcript	missense_variant	877/1795	823/870	275/289	D/Y	Gat/Tat		1		-1	C9orf78	HGNC	HGNC:24932	protein_coding	YES	CCDS6931.1	ENSP00000361524	Q9NZ63		UPI000006F0CA	NM_016520.2	deleterious(0)		9/9		hmmpanther:PTHR13486:SF2,hmmpanther:PTHR13486																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	129828208	129828208	C	A	1	0	0	0	0	1	0	0	0	2191	826	29	2		2	C9orf78	9	129828208	Missense_Mutation	SNP	C	C3N-00203_TP	7957566	129828208	8566509	265	12213											
ABCA2	0	.	GRCh38	chr9	137016448	137016448	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaggcaggtgggtgggctCctcctccatgccacgggtct	5	8	15	13	1	1	1	0	0	1	1	4	1	4	1	4	5	1	2	4	5	0	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.2947G>T	p.Glu983Ter	p.E983*	ENST00000341511	21/49	209	187	22	144	143	1	strelka-varscan-mutect	ABCA2,stop_gained,p.Glu983Ter,ENST00000265662,;ABCA2,stop_gained,p.Glu982Ter,ENST00000371605,;ABCA2,stop_gained,p.Glu1013Ter,ENST00000614293,;ABCA2,stop_gained,p.Glu983Ter,ENST00000341511,NM_001606.4,NM_212533.2;ABCA2,stop_gained,p.Glu333Ter,ENST00000479446,;ABCA2,stop_gained,p.Glu330Ter,ENST00000488535,;ABCA2,3_prime_UTR_variant,,ENST00000487109,;ABCA2,non_coding_transcript_exon_variant,,ENST00000459850,;ABCA2,downstream_gene_variant,,ENST00000464876,;ABCA2,downstream_gene_variant,,ENST00000492260,;ABCA2,downstream_gene_variant,,ENST00000494046,;ABCA2,upstream_gene_variant,,ENST00000431584,;ABCA2,downstream_gene_variant,,ENST00000470535,;ABCA2,downstream_gene_variant,,ENST00000466707,;ABCA2,downstream_gene_variant,,ENST00000467624,;	A	ENST00000341511	Transcript	stop_gained	2997/8063	2947/7311	983/2436	E/*	Gag/Tag		1		-1	ABCA2	HGNC	HGNC:32	protein_coding	YES	CCDS43909.1	ENSP00000344155	Q9BZC7		UPI0000049F97	NM_001606.4,NM_212533.2			21/49		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF116																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	42	137016448	137016448	C	A	1	0	0	0	0	0	1	0	0	36	864	30	2		2	ABCA2	9	137016448	Nonsense_Mutation	SNP	C	C3N-00203_TP	7188240	137016448	1378269	266	12214											
KIAA1217	0	.	GRCh38	chr10	24543531	24543531	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatatcgatgccagaaaaGagatgaccccccgacaagaa	17	6	8	10	2	0	4	0	1	0	3	1	7	0	4	4	0	1	0	4	0	6	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.4261G>T	p.Glu1421Ter	p.E1421*	ENST00000376454	19/21	276	215	61	282	281	1	strelka-varscan-mutect	KIAA1217,stop_gained,p.Glu1104Ter,ENST00000376451,;KIAA1217,stop_gained,p.Glu1421Ter,ENST00000376454,NM_019590.4;KIAA1217,stop_gained,p.Glu304Ter,ENST00000635163,;KIAA1217,intron_variant,,ENST00000376462,NM_001098500.2;KIAA1217,intron_variant,,ENST00000376452,NM_001282767.1;KIAA1217,intron_variant,,ENST00000458595,NM_001282768.1;KIAA1217,intron_variant,,ENST00000430453,;KIAA1217,intron_variant,,ENST00000396445,;KIAA1217,intron_variant,,ENST00000307544,NM_001282769.1;KIAA1217,intron_variant,,ENST00000396446,NM_001282770.1;KIAA1217,non_coding_transcript_exon_variant,,ENST00000492009,;	T	ENST00000376454	Transcript	stop_gained	4291/7381	4261/5832	1421/1943	E/*	Gag/Tag		1		1	KIAA1217	HGNC	HGNC:25428	protein_coding	YES	CCDS31165.1	ENSP00000365637	Q5T5P2		UPI000013EC2A	NM_019590.4			19/21		hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	42	24543531	24543531	G	T	1	0	0	0	0	0	1	0	0	8109	943	33	2		2	KIAA1217	10	24543531	Nonsense_Mutation	SNP	G	C3N-00203_TP		24543531	109253891	267	12215											
MPP7	0	.	GRCh38	chr10	28059698	28059698	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgcttggaaatgaaaatgTattcaacaccatcactctcc	15	11	5	10	0	3	1	2	1	1	0	4	2	3	2	2	1	2	2	2	1	6	3	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.1250A>T	p.Tyr417Phe	p.Y417F	ENST00000337532	15/18	312	253	59	271	271	0	strelka-varscan-mutect	MPP7,missense_variant,p.Tyr417Phe,ENST00000337532,NM_001318170.1,NM_173496.3;MPP7,missense_variant,p.Tyr417Phe,ENST00000375732,;MPP7,missense_variant,p.Tyr417Phe,ENST00000375719,;MPP7,missense_variant,p.Tyr178Phe,ENST00000441595,;MPP7,missense_variant,p.Tyr417Phe,ENST00000496637,;	A	ENST00000337532	Transcript	missense_variant	1527/5080	1250/1731	417/576	Y/F	tAc/tTc		1		-1	MPP7	HGNC	HGNC:26542	protein_coding	YES	CCDS7158.1	ENSP00000337907	Q5T2T1		UPI00000558E1	NM_001318170.1,NM_173496.3	deleterious(0)		15/18		PROSITE_profiles:PS50052,hmmpanther:PTHR23122:SF39,hmmpanther:PTHR23122,PROSITE_patterns:PS00856,Gene3D:3.30.63.10,Pfam_domain:PF00625,SMART_domains:SM00072,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	28059698	28059698	T	A	1	0	0	0	0	1	0	0	0	9705	1638	57	4		4	MPP7	10	28059698	Missense_Mutation	SNP	T	C3N-00203_TP	3516167	28059698	105737724	268	12216											
EPC1	0	.	GRCh38	chr10	32292991	32292991	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaaattcacttactttTcgagtctgcattttttcagt	8	20	4	9	1	5	0	3	0	2	0	6	1	5	0	0	0	2	1	0	0	2	8	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.663A>G	p.=	p.R221R	ENST00000263062	4/15	163	128	35	135	135	0	strelka-varscan-mutect	EPC1,synonymous_variant,p.=,ENST00000319778,NM_001272019.2,NM_001272004.1;EPC1,synonymous_variant,p.=,ENST00000375110,NM_001282391.1;EPC1,synonymous_variant,p.=,ENST00000263062,NM_025209.3;EPC1,non_coding_transcript_exon_variant,,ENST00000495790,;	C	ENST00000263062	Transcript	synonymous_variant	933/2913	663/2511	221/836	R	cgA/cgG		1		-1	EPC1	HGNC	HGNC:19876	protein_coding	YES	CCDS7172.1	ENSP00000263062	Q9H2F5		UPI000006F77F	NM_025209.3			4/15		hmmpanther:PTHR14898,hmmpanther:PTHR14898:SF6																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	42	32292991	32292991	T	C	1	0	0	0	0	0	0	0	1	5006	1797	62	5		5	EPC1	10	32292991	Silent	SNP	T	C3N-00203_TP	4233293	32292991	101504431	269	12217											
FZD8	0	.	GRCh38	chr10	35640771	35640771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagccgcgccgccgccagggGgccgcgccttcccgccaccg	3	2	15	21	8	0	0	0	0	0	0	1	1	1	0	9	2	1	0	9	2	0	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.659C>A	p.Pro220His	p.P220H	ENST00000374694	1/1	24	16	8	25	25	0	strelka-varscan-mutect	FZD8,missense_variant,p.Pro220His,ENST00000374694,NM_031866.2;FZD8,downstream_gene_variant,,ENST00000579659,;	T	ENST00000374694	Transcript	missense_variant	1508/4030	659/2085	220/694	P/H	cCc/cAc		1		-1	FZD8	HGNC	HGNC:4046	protein_coding	YES	CCDS7192.1	ENSP00000363826	Q9H461		UPI0000047F3B	NM_031866.2	tolerated(0.06)		1/1		Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	42	35640771	35640771	G	T	1	0	0	0	0	1	0	0	0	6007	1232	43	2		2	FZD8	10	35640771	Missense_Mutation	SNP	G	C3N-00203_TP	3347780	35640771	98156651	270	12218											
PRKG1	0	.	GRCh38	chr10	52280815	52280815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgaagattctacaaccaGattttacacagcatgtgtgg	12	13	9	7	0	1	3	0	1	1	2	1	3	1	3	1	1	4	2	1	1	4	5			C3N-00203_TP	C3N-00203_NB	G	G																c.1430G>T	p.Arg477Ile	p.R477I	ENST00000373980	13/18	353	191	162	304	304	0	strelka-varscan-mutect	PRKG1,missense_variant,p.Arg477Ile,ENST00000373980,NM_006258.3;PRKG1,missense_variant,p.Arg462Ile,ENST00000373985,NM_001098512.2;PRKG1,missense_variant,p.Arg250Ile,ENST00000401604,;PRKG1-AS1,intron_variant,,ENST00000426785,;PRKG1-AS1,intron_variant,,ENST00000452247,;PRKG1,non_coding_transcript_exon_variant,,ENST00000373975,;	T	ENST00000373980	Transcript	missense_variant	1847/6928	1430/2061	477/686	R/I	aGa/aTa	COSM2146593,COSM2146594	1		1	PRKG1	HGNC	HGNC:9414	protein_coding	YES	CCDS7244.1	ENSP00000363092	Q13976		UPI000012DDCD	NM_006258.3	deleterious(0)		13/18		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000559,PROSITE_profiles:PS50011,hmmpanther:PTHR24353,hmmpanther:PTHR24353:SF68,SMART_domains:SM00220,Superfamily_domains:SSF56112											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	42	52280815	52280815	G	T	1	0	0	0	0	1	0	0	0	12655	942	33	2		2	PRKG1	10	52280815	Missense_Mutation	SNP	G	C3N-00203_TP	16640044	52280815	81516607	271	12219											
KCNMA1	0	.	GRCh38	chr10	77086560	77086560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgagtaaaatgtcgtttGaacagagcttcaagctccag	13	10	9	9	1	1	3	1	2	0	1	3	3	2	3	2	0	3	4	2	0	4	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1368C>T	p.=	p.F456F	ENST00000286628	11/28	541	322	219	431	431	0	strelka-varscan-mutect	KCNMA1,synonymous_variant,p.=,ENST00000604624,NM_001322832.1,NM_001322829.1;KCNMA1,synonymous_variant,p.=,ENST00000286627,NM_002247.3;KCNMA1,synonymous_variant,p.=,ENST00000286628,NM_001161352.1;KCNMA1,synonymous_variant,p.=,ENST00000354353,;KCNMA1,synonymous_variant,p.=,ENST00000406533,NM_001322837.1,NM_001271519.1;KCNMA1,synonymous_variant,p.=,ENST00000372443,;KCNMA1,synonymous_variant,p.=,ENST00000372440,NM_001014797.2;KCNMA1,synonymous_variant,p.=,ENST00000404771,;KCNMA1,synonymous_variant,p.=,ENST00000457953,;KCNMA1,synonymous_variant,p.=,ENST00000626620,NM_001161353.1;KCNMA1,synonymous_variant,p.=,ENST00000372437,;KCNMA1,synonymous_variant,p.=,ENST00000372421,;KCNMA1,synonymous_variant,p.=,ENST00000372408,;KCNMA1,synonymous_variant,p.=,ENST00000372403,;KCNMA1,synonymous_variant,p.=,ENST00000404857,NM_001271518.1;KCNMA1,synonymous_variant,p.=,ENST00000434208,;KCNMA1,upstream_gene_variant,,ENST00000484507,;	A	ENST00000286628	Transcript	synonymous_variant	1368/6100	1368/3711	456/1236	F	ttC/ttT		1		-1	KCNMA1	HGNC	HGNC:6284	protein_coding	YES	CCDS60569.1	ENSP00000286628	Q12791		UPI00003519E7	NM_001161352.1			11/28		Gene3D:3.40.50.720,Prints_domain:PR01449,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF28,Superfamily_domains:SSF51735																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	77086560	77086560	G	A	1	0	0	0	0	0	0	0	1	7990	1281	45	3		3	KCNMA1	10	77086560	Silent	SNP	G	C3N-00203_TP	24805745	77086560	56710862	272	12220											
MYOF	0	.	GRCh38	chr10	93392937	93392937	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatatgatgcagccccaGttcccgaagatgagaaatct	12	10	9	10	1	1	3	0	2	1	2	2	5	2	3	3	0	2	3	3	0	4	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1436C>G	p.Thr479Ser	p.T479S	ENST00000359263	17/54	243	146	97	182	182	0	strelka-varscan-mutect	MYOF,missense_variant,p.Thr479Ser,ENST00000359263,NM_013451.3;MYOF,intron_variant,,ENST00000358334,NM_133337.2;MYOF,downstream_gene_variant,,ENST00000371489,;	C	ENST00000359263	Transcript	missense_variant	1436/6719	1436/6186	479/2061	T/S	aCt/aGt		1		-1	MYOF	HGNC	HGNC:3656	protein_coding	YES	CCDS41551.1	ENSP00000352208	Q9NZM1		UPI000012FBA1	NM_013451.3	tolerated(0.86)		17/54																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	93392937	93392937	G	C	1	0	0	0	0	1	0	0	0	10090	1029	36	4		4	MYOF	10	93392937	Missense_Mutation	SNP	G	C3N-00203_TP	16306377	93392937	40404485	273	12221											
DNMBP	0	.	GRCh38	chr10	99955806	99955806	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcttctcaaactcgatCagctgttgtgtcagcttcga	9	13	8	11	2	4	0	3	0	2	0	7	2	4	0	0	0	4	4	0	0	2	3	rs749330402		C3N-00203_TP	C3N-00203_NB	C	C																c.1668G>T	p.=	p.L556L	ENST00000324109	4/17	313	171	142	249	249	0	strelka-varscan-mutect	DNMBP,synonymous_variant,p.=,ENST00000324109,NM_015221.2;DNMBP-AS1,non_coding_transcript_exon_variant,,ENST00000434409,;	A	ENST00000324109	Transcript	synonymous_variant	1760/6400	1668/4734	556/1577	L	ctG/ctT	rs749330402	1		-1	DNMBP	HGNC	HGNC:30373	protein_coding	YES	CCDS7485.1	ENSP00000315659	Q6XZF7		UPI000013D6C9	NM_015221.2			4/17		hmmpanther:PTHR22834:SF19,hmmpanther:PTHR22834																	LOW	1	SNV	1			1										PASS		rs749330402	.												A	2	1	42	99955806	99955806	C	A	1	0	0	0	0	0	0	0	1	4487	813	29	2		2	DNMBP	10	99955806	Silent	SNP	C	C3N-00203_TP	6562869	99955806	33841616	274	12222											
TLX1	0	.	GRCh38	chr10	101131576	101131576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgcaccacctccacccggGtcacgcagagcccattagct	8	6	8	19	3	1	1	1	0	0	1	3	1	3	1	6	1	2	3	6	1	1	1	rs547819047		C3N-00203_TP	C3N-00203_NB	G	G																c.35G>T	p.Gly12Val	p.G12V	ENST00000370196	1/3	90	84	6	82	82	0	strelka-varscan-mutect	TLX1,missense_variant,p.Gly12Val,ENST00000370196,NM_005521.3;TLX1,missense_variant,p.Gly12Val,ENST00000467928,NM_001195517.1;TLX1,upstream_gene_variant,,ENST00000463716,;TLX1NB,upstream_gene_variant,,ENST00000445873,;TLX1NB,upstream_gene_variant,,ENST00000425505,;TLX1,upstream_gene_variant,,ENST00000533319,;TLX1,upstream_gene_variant,,ENST00000525019,;	T	ENST00000370196	Transcript	missense_variant	1072/2906	35/993	12/330	G/V	gGt/gTt	rs547819047	1		1	TLX1	HGNC	HGNC:5056	protein_coding	YES	CCDS7510.1	ENSP00000359215	P31314		UPI000013705F	NM_005521.3	tolerated(0.09)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF120,hmmpanther:PTHR24326																	MODERATE	1	SNV	1			1										PASS		rs547819047	.												T	3	4	42	101131576	101131576	G	T	1	0	0	0	0	1	0	0	0	16405	1261	44	2		2	TLX1	10	101131576	Missense_Mutation	SNP	G	C3N-00203_TP	1175770	101131576	32665846	275	12223											
SORCS3	0	.	GRCh38	chr10	105139416	105139416	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtaacaactagtggaagagCcagctactacgtgtcttatc	12	10	10	9	1	1	1	0	0	1	1	2	2	1	2	1	2	6	2	1	2	7	5	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1232C>A	p.Ala411Asp	p.A411D	ENST00000369701	8/27	105	73	32	97	97	0	strelka-varscan-mutect	SORCS3,missense_variant,p.Ala411Asp,ENST00000369701,NM_014978.2;SORCS3,missense_variant,p.Ala411Asp,ENST00000369699,;	A	ENST00000369701	Transcript	missense_variant	1459/5757	1232/3669	411/1222	A/D	gCc/gAc		1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2	deleterious(0.02)		8/27		Pfam_domain:PF15902,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,SMART_domains:SM00602																	MODERATE	1	SNV	1			1										PASS		rs1163237794	.												A	3	1	42	105139416	105139416	C	A	1	0	0	0	0	1	0	0	0	15254	739	26	2		2	SORCS3	10	105139416	Missense_Mutation	SNP	C	C3N-00203_TP	4007840	105139416	28658006	276	12224											
TACC2	0	.	GRCh38	chr10	122085467	122085467	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttgctgcactgggcagggGccaaacaagtctcaacaggc	11	6	12	12	0	1	0	1	0	1	0	2	0	1	0	1	4	4	3	1	4	3	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.2967G>T	p.=	p.G989G	ENST00000369005	4/23	439	249	190	321	321	0	strelka-varscan-mutect	TACC2,synonymous_variant,p.=,ENST00000369005,NM_206862.3;TACC2,synonymous_variant,p.=,ENST00000334433,;TACC2,synonymous_variant,p.=,ENST00000515273,NM_001291877.1;TACC2,synonymous_variant,p.=,ENST00000453444,;TACC2,synonymous_variant,p.=,ENST00000515603,NM_001291876.1;TACC2,intron_variant,,ENST00000513429,NM_206861.2;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;	T	ENST00000369005	Transcript	synonymous_variant	3307/9673	2967/8847	989/2948	G	ggG/ggT		1		1	TACC2	HGNC	HGNC:11523	protein_coding	YES	CCDS7626.1	ENSP00000358001	O95359		UPI0000246F6B	NM_206862.3			4/23		hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	42	122085467	122085467	G	T	1	0	0	0	0	0	0	0	1	15898	1190	42	2		2	TACC2	10	122085467	Silent	SNP	G	C3N-00203_TP	16946051	122085467	11711955	277	12225											
CFAP46	0	.	GRCh38	chr10	132847074	132847074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcagcagcacctctgacGcctgagccaggtactgctgg	8	7	12	14	1	1	2	0	2	1	0	1	2	1	2	3	2	6	5	3	2	1	1	rs372515344		C3N-00203_TP	C3N-00203_NB	G	G																c.6125C>A	p.Ala2042Glu	p.A2042E	ENST00000368586	43/58	104	56	48	80	80	0	strelka-varscan-mutect	CFAP46,missense_variant,p.Ala2042Glu,ENST00000368586,NM_001200049.2;	T	ENST00000368586	Transcript	missense_variant	6226/8278	6125/8148	2042/2715	A/E	gCg/gAg	rs372515344	1		-1	CFAP46	HGNC	HGNC:25247	protein_coding	YES	CCDS58101.1	ENSP00000357575	Q8IYW2		UPI0001B79116	NM_001200049.2	deleterious(0)		43/58		hmmpanther:PTHR15977,hmmpanther:PTHR15977:SF15																	MODERATE	1	SNV	5			1										PASS		rs372515344	.												T	3	4	42	132847074	132847074	G	T	1	0	0	0	0	1	0	0	0	3021	1087	38	1		1	CFAP46	10	132847074	Missense_Mutation	SNP	G	C3N-00203_TP	10761607	132847074	950348	278	12226											
TRPM5	0	.	GRCh38	chr11	2421188	2421188	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgcggagggcactggtcagGatccaggctcctgtggggat	7	7	17	10	2	1	0	1	0	0	0	3	3	3	3	2	7	0	2	2	7	0	0	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.309C>T	p.=	p.I103I	ENST00000155858	3/24	210	150	60	183	183	0	strelka-varscan-mutect	TRPM5,synonymous_variant,p.=,ENST00000155858,NM_014555.3;TRPM5,synonymous_variant,p.=,ENST00000533881,;TRPM5,synonymous_variant,p.=,ENST00000533060,;TRPM5,synonymous_variant,p.=,ENST00000528453,;	A	ENST00000155858	Transcript	synonymous_variant	318/3929	309/3498	103/1165	I	atC/atT		1		-1	TRPM5	HGNC	HGNC:14323	protein_coding	YES	CCDS31340.1	ENSP00000155858	Q9NZQ8		UPI000003B069	NM_014555.3			3/24		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF5																	LOW	1	SNV	1			1										PASS		rs1337463471	.												A	2	1	42	2421188	2421188	G	A	1	0	0	0	0	0	0	0	1	17095	1164	41	3		3	TRPM5	11	2421188	Silent	SNP	G	C3N-00203_TP		2421188	132665434	279	12227											
OR52J3	0	.	GRCh38	chr11	5046855	5046855	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgatccatgccttcacTggcatggaggctgaggtctt	6	14	11	10	0	3	2	1	2	2	0	4	3	4	3	2	4	1	2	2	4	0	3	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.330T>A	p.=	p.T110T	ENST00000380370	1/1	200	147	53	207	207	0	strelka-varscan-mutect	OR52J3,synonymous_variant,p.=,ENST00000380370,NM_001001916.2;	A	ENST00000380370	Transcript	synonymous_variant	330/936	330/936	110/311	T	acT/acA		1		1	OR52J3	HGNC	HGNC:14799	protein_coding	YES	CCDS31370.1	ENSP00000369728	Q8NH60		UPI0000046AE0	NM_001001916.2			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF9,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												A	2	1	42	5046855	5046855	T	A	1	0	0	0	0	0	0	0	1	11195	1567	55	4		4	OR52J3	11	5046855	Silent	SNP	T	C3N-00203_TP	2625667	5046855	130039767	280	12228											
OR51B5	0	.	GRCh38	chr11	5343513	5343513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagggatgggagctgccGctggacgacatcctgggttt	8	8	17	8	2	0	0	0	0	0	0	1	5	1	4	2	5	2	3	2	5	1	1	rs201732422		C3N-00203_TP	C3N-00203_NB	G	G																c.12C>A	p.Ser4Arg	p.S4R	ENST00000300773	1/1	34	23	11	65	65	0	strelka-varscan-mutect	OR51B5,missense_variant,p.Ser4Arg,ENST00000300773,NM_001005567.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,non_coding_transcript_exon_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	T	ENST00000300773	Transcript	missense_variant	12/939	12/939	4/312	S/R	agC/agA	rs201732422	1		-1	OR51B5	HGNC	HGNC:19599	protein_coding	YES	CCDS31378.1	ENSP00000300773	Q9H339		UPI000013E697	NM_001005567.2	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF76																	MODERATE		SNV				1										PASS		rs201732422	.												T	3	4	42	5343513	5343513	G	T	1	0	0	0	0	1	0	0	0	11165	1078	38	1		1	OR51B5	11	5343513	Missense_Mutation	SNP	G	C3N-00203_TP	296658	5343513	129743109	281	12229											
OR51J1	0	.	GRCh38	chr11	5403114	5403114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatggcgtctgcccttctgtGgccacaatgccctctcacat	6	12	8	15	1	3	0	1	0	3	0	4	0	3	0	3	2	2	0	3	2	2	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.518G>T	p.Trp173Leu	p.W173L	ENST00000332043	1/1	200	144	56	214	213	1	strelka-varscan-mutect	OR51J1,missense_variant,p.Trp173Leu,ENST00000332043,;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	T	ENST00000332043	Transcript	missense_variant	518/951	518/951	173/316	W/L	tGg/tTg		1		1	OR51J1	HGNC	HGNC:14856	protein_coding	YES		ENSP00000332473	Q9H342		UPI00001AFFE3		tolerated(1)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF81,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												T	3	4	42	5403114	5403114	G	T	1	0	0	0	0	1	0	0	0	11175	1357	47	2		2	OR51J1	11	5403114	Missense_Mutation	SNP	G	C3N-00203_TP	59601	5403114	129683508	282	12230											
MPPED2	0	.	GRCh38	chr11	30580332	30580332	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgagctgtactcatccacCgttatggtaactttgccttg	7	16	8	10	1	1	1	1	1	0	0	2	1	2	1	3	1	4	4	3	1	3	6	rs771565862		C3N-00203_TP	C3N-00203_NB	C	C																c.42G>C	p.=	p.T14T	ENST00000358117	1/6	211	146	65	196	196	0	strelka-varscan-mutect	MPPED2,synonymous_variant,p.=,ENST00000448418,NM_001145399.1;MPPED2,synonymous_variant,p.=,ENST00000358117,NM_001584.2;MPPED2,synonymous_variant,p.=,ENST00000528686,;RP5-1024C24.1,upstream_gene_variant,,ENST00000531002,;RP5-1024C24.1,upstream_gene_variant,,ENST00000525871,;MPPED2,synonymous_variant,p.=,ENST00000526437,;	G	ENST00000358117	Transcript	synonymous_variant	165/2405	42/885	14/294	T	acG/acC	rs771565862	1		-1	MPPED2	HGNC	HGNC:1180	protein_coding	YES	CCDS7870.1	ENSP00000350833	Q15777		UPI0000124E87	NM_001584.2			1/6		PIRSF_domain:PIRSF035808,hmmpanther:PTHR12905,hmmpanther:PTHR12905:SF12																	LOW	1	SNV	1			1										PASS		rs771565862	.												G	2	3	42	30580332	30580332	C	G	1	0	0	0	0	0	0	0	1	9708	639	23	4		4	MPPED2	11	30580332	Silent	SNP	C	C3N-00203_TP	25177218	30580332	104506290	283	12231											
LARGE2	0	.	GRCh38	chr11	45928274	45928274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgggcggccaactatgaaCcctacgtggtggtgccacga	10	7	13	11	3	0	1	0	1	0	0	0	2	0	1	3	4	4	0	3	4	5	2	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1852C>A	p.Pro618Thr	p.P618T	ENST00000531526	13/14	334	236	98	312	312	0	strelka-varscan-mutect	LARGE2,missense_variant,p.Pro618Thr,ENST00000531526,NM_152312.4;LARGE2,missense_variant,p.Pro618Thr,ENST00000325468,;LARGE2,missense_variant,p.Pro618Thr,ENST00000401752,NM_001300721.1;LARGE2,missense_variant,p.Pro587Thr,ENST00000529052,NM_001300722.1;LARGE2,intron_variant,,ENST00000531847,;PHF21A,downstream_gene_variant,,ENST00000323180,NM_016621.3;LARGE2,downstream_gene_variant,,ENST00000534410,;LARGE2,non_coding_transcript_exon_variant,,ENST00000528236,;LARGE2,non_coding_transcript_exon_variant,,ENST00000530437,;PHF21A,downstream_gene_variant,,ENST00000527401,;LARGE2,downstream_gene_variant,,ENST00000414027,;LARGE2,downstream_gene_variant,,ENST00000525609,;	A	ENST00000531526	Transcript	missense_variant	1963/2528	1852/2166	618/721	P/T	Ccc/Acc		1		1	LARGE2	HGNC	HGNC:16522	protein_coding	YES	CCDS31473.1	ENSP00000432869	Q8N3Y3		UPI000004B639	NM_152312.4	deleterious(0)		13/14		Pfam_domain:PF13896,hmmpanther:PTHR12270,hmmpanther:PTHR12270:SF23																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	42	45928274	45928274	C	A	1	0	0	0	0	1	0	0	0	8538	507	18	2		2	LARGE2	11	45928274	Missense_Mutation	SNP	C	C3N-00203_TP	15347942	45928274	89158348	284	12232											
OR5B2	0	.	GRCh38	chr11	58422414	58422414	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtagaccacagggttcAgcatggggatgatcatagca	11	8	14	8	0	2	2	2	1	0	1	2	3	2	3	1	4	2	5	1	4	2	3	rs201040273		C3N-00203_TP	C3N-00203_NB	A	A																c.848T>A	p.Leu283Gln	p.L283Q	ENST00000302581	1/1	206	151	55	221	220	1	strelka-varscan-mutect	OR5B2,missense_variant,p.Leu283Gln,ENST00000302581,NM_001005566.2;	T	ENST00000302581	Transcript	missense_variant	900/1049	848/930	283/309	L/Q	cTg/cAg	rs201040273	1		-1	OR5B2	HGNC	HGNC:8323	protein_coding	YES	CCDS31550.1	ENSP00000303076	Q96R09		UPI000004B227	NM_001005566.2	deleterious_low_confidence(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF3,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs201040273	.												T	3	4	42	58422414	58422414	A	T	1	0	0	0	0	1	0	0	0	11221	188	7	4		4	OR5B2	11	58422414	Missense_Mutation	SNP	A	C3N-00203_TP	12494140	58422414	76664208	285	12233											
OR5B12	0	.	GRCh38	chr11	58439403	58439403	+	Frame_Shift_Del	DEL	T	T	-																															acataaagattcctgtcccaTaaaagatggaaactgcagta																								novel		C3N-00203_TP	C3N-00203_NB	T	T																c.749delA	p.Tyr250LeufsTer29	p.Y250Lfs*29	ENST00000302572	1/1	138	96	42	156	156	0	sindel-varindel-pindel	OR5B12,frameshift_variant,p.Tyr250LeufsTer29,ENST00000302572,NM_001004733.2;	-	ENST00000302572	Transcript	frameshift_variant	771/1054	749/945	250/314	Y/X	tAt/tt		1		-1	OR5B12	HGNC	HGNC:15432	protein_coding	YES	CCDS31551.1	ENSP00000306657	Q96R08		UPI00000015B2	NM_001004733.2			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF15,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	HIGH	1	deletion				1										PASS		.	.												-	7	5	42	58439403	58439403	T	-	1	0	1	0	1	0	0	0	0	11219	1406	49	0		0	OR5B12	11	58439403	Frame_Shift_Del	DEL	T	C3N-00203_TP	16989	58439403	76647219	286	12234											
MS4A6E	0	.	GRCh38	chr11	60337944	60337944	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catagagccaaagccagtctGgctgtaagtattttttagat	12	13	9	7	0	1	2	0	0	1	2	1	2	1	2	2	1	2	3	2	1	5	6	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.351G>T	p.=	p.L117L	ENST00000300182	2/4	174	131	43	183	182	1	strelka-varscan-mutect	MS4A6E,synonymous_variant,p.=,ENST00000300182,NM_139249.2;MS4A6E,synonymous_variant,p.=,ENST00000532756,;MS4A6E,intron_variant,,ENST00000530509,;	T	ENST00000300182	Transcript	synonymous_variant	416/711	351/444	117/147	L	ctG/ctT		1		1	MS4A6E	HGNC	HGNC:14285	protein_coding	YES	CCDS7984.1	ENSP00000300182	Q96DS6		UPI0000073D4C	NM_139249.2			2/4		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF46																	LOW	1	SNV	1			1										PASS		rs1185862934	.												T	2	4	42	60337944	60337944	G	T	1	0	0	0	0	0	0	0	1	9844	1362	47	2		2	MS4A6E	11	60337944	Silent	SNP	G	C3N-00203_TP	1898541	60337944	74748678	287	12235											
PGA5	0	.	GRCh38	chr11	61251178	61251178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagggcatgaacgtccccaCcgaatctggagagctttgga	10	7	12	12	2	1	2	0	1	1	1	2	5	2	3	4	3	2	2	4	3	2	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1064C>A	p.Thr355Asn	p.T355N	ENST00000312403	9/9	633	487	146	494	493	1	strelka-varscan-mutect	PGA5,missense_variant,p.Thr355Asn,ENST00000312403,NM_014224.3;PGA5,missense_variant,p.Thr201Asn,ENST00000451616,;PGA5,missense_variant,p.Thr95Asn,ENST00000541528,;CTD-2331C18.5,downstream_gene_variant,,ENST00000537594,;	A	ENST00000312403	Transcript	missense_variant	1249/1519	1064/1167	355/388	T/N	aCc/aAc		1		1	PGA5	HGNC	HGNC:8887	protein_coding	YES	CCDS8001.1	ENSP00000309542	P0DJD9		UPI000006CE33	NM_014224.3	tolerated(0.5)		9/9		Gene3D:2.40.70.10,Pfam_domain:PF00026,PROSITE_profiles:PS51767,hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF239,Superfamily_domains:SSF50630																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	61251178	61251178	C	A	1	0	0	0	0	1	0	0	0	11862	507	18	2		2	PGA5	11	61251178	Missense_Mutation	SNP	C	C3N-00203_TP	913234	61251178	73835444	288	12236											
SLC22A24	0	.	GRCh38	chr11	63096099	63096099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccttcttcatggtggatCtcacaagcttcagcaacaaa	12	11	6	12	0	4	0	3	0	2	0	6	1	5	1	1	2	3	2	1	2	3	3	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.962G>T	p.Arg321Ile	p.R321I	ENST00000612278	6/10	189	147	42	151	151	0	strelka-varscan-mutect	SLC22A24,missense_variant,p.Arg321Ile,ENST00000612278,NM_001136506.2;SLC22A24,missense_variant,p.Arg321Ile,ENST00000417740,;	A	ENST00000612278	Transcript	missense_variant	1404/2101	962/1659	321/552	R/I	aGa/aTa		1		-1	SLC22A24	HGNC	HGNC:28542	protein_coding	YES	CCDS73308.1	ENSP00000480336		A0A087WWM3	UPI000004DAF7	NM_001136506.2	deleterious(0.03)		6/10		PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF208,Pfam_domain:PF00083,Superfamily_domains:SSF103473																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	42	63096099	63096099	C	A	1	0	0	0	0	1	0	0	0	14718	913	32	2		2	SLC22A24	11	63096099	Missense_Mutation	SNP	C	C3N-00203_TP	1844921	63096099	71990523	289	12237											
PACS1	0	.	GRCh38	chr11	66070525	66070525	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcggtggtcccggaggCgccgggggcggcagcggcca	3	2	23	13	7	0	0	0	0	0	0	1	1	1	1	3	9	1	1	3	9	0	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.39C>G	p.=	p.G13G	ENST00000320580	1/24	59	50	9	73	73	0	strelka-varscan-mutect	PACS1,synonymous_variant,p.=,ENST00000320580,NM_018026.3;SF3B2,downstream_gene_variant,,ENST00000528302,;SF3B2,downstream_gene_variant,,ENST00000322535,NM_006842.2;SF3B2,downstream_gene_variant,,ENST00000530981,;RP11-1167A19.2,upstream_gene_variant,,ENST00000529036,;PACS1,non_coding_transcript_exon_variant,,ENST00000527224,;SF3B2,downstream_gene_variant,,ENST00000534765,;	G	ENST00000320580	Transcript	synonymous_variant	72/4392	39/2892	13/963	G	ggC/ggG		1		1	PACS1	HGNC	HGNC:30032	protein_coding	YES	CCDS8129.1	ENSP00000316454	Q6VY07	A0A024R5H6	UPI0000190973	NM_018026.3			1/24		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	42	66070525	66070525	C	G	1	0	0	0	0	0	0	0	1	11450	755	27	4		4	PACS1	11	66070525	Silent	SNP	C	C3N-00203_TP	2974426	66070525	69016097	290	12238											
PPP6R3	0	.	GRCh38	chr11	68554189	68554189	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgaaattgttcgcctGagcagagaccagatgttaca	11	12	10	8	1	0	4	0	2	0	2	1	5	0	4	2	0	2	3	2	0	2	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.663G>T	p.=	p.L221L	ENST00000393801	7/25	230	186	44	172	171	1	strelka-varscan-mutect	PPP6R3,synonymous_variant,p.=,ENST00000393800,NM_001164161.1;PPP6R3,synonymous_variant,p.=,ENST00000393801,NM_001164160.1;PPP6R3,synonymous_variant,p.=,ENST00000527403,;PPP6R3,synonymous_variant,p.=,ENST00000265636,NM_018312.4;PPP6R3,synonymous_variant,p.=,ENST00000265637,;PPP6R3,synonymous_variant,p.=,ENST00000524904,NM_001164162.1;PPP6R3,synonymous_variant,p.=,ENST00000529710,NM_001164164.1;PPP6R3,synonymous_variant,p.=,ENST00000524845,NM_001164163.1;PPP6R3,synonymous_variant,p.=,ENST00000529907,;PPP6R3,intron_variant,,ENST00000534534,;PPP6R3,upstream_gene_variant,,ENST00000534190,;PPP6R3,downstream_gene_variant,,ENST00000531244,;PPP6R3,upstream_gene_variant,,ENST00000531432,;PPP6R3,downstream_gene_variant,,ENST00000527069,;PPP6R3,downstream_gene_variant,,ENST00000525050,;PPP6R3,downstream_gene_variant,,ENST00000529172,;	T	ENST00000393801	Transcript	synonymous_variant	878/5069	663/2640	221/879	L	ctG/ctT		1		1	PPP6R3	HGNC	HGNC:1173	protein_coding	YES	CCDS53671.1	ENSP00000377390	Q5H9R7		UPI0000688150	NM_001164160.1			7/25		hmmpanther:PTHR12634:SF12,hmmpanther:PTHR12634,Pfam_domain:PF04499,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	42	68554189	68554189	G	T	1	0	0	0	0	0	0	0	1	12536	1277	45	2		2	PPP6R3	11	68554189	Silent	SNP	G	C3N-00203_TP	2483664	68554189	66532433	291	12239											
FGF3	0	.	GRCh38	chr11	69810334	69810334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actggcctccagctgggagcCcagtctcgaagcctgaacgt	8	7	12	14	2	1	1	0	1	1	0	3	3	2	2	4	2	4	1	4	2	2	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.691G>T	p.Gly231Cys	p.G231C	ENST00000334134	3/3	90	54	36	40	40	0	strelka-varscan-mutect	FGF3,missense_variant,p.Gly231Cys,ENST00000334134,NM_005247.2;	A	ENST00000334134	Transcript	missense_variant	782/892	691/720	231/239	G/C	Ggc/Tgc		1		-1	FGF3	HGNC	HGNC:3681	protein_coding	YES	CCDS8195.1	ENSP00000334122	P11487		UPI0000040661	NM_005247.2	deleterious_low_confidence(0.02)		3/3																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	69810334	69810334	C	A	1	0	0	0	0	1	0	0	0	5717	623	22	2		2	FGF3	11	69810334	Missense_Mutation	SNP	C	C3N-00203_TP	1256145	69810334	65276288	292	12240											
FGF3	0	.	GRCh38	chr11	69816370	69816370	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccaggtaccgcccggagaAgagacccctgatggccacaa	11	3	13	14	2	0	3	0	1	0	2	0	5	0	3	6	4	1	1	6	4	3	1	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.274T>A	p.Phe92Ile	p.F92I	ENST00000334134	2/3	556	418	138	395	395	0	strelka-varscan-mutect	FGF3,missense_variant,p.Phe92Ile,ENST00000334134,NM_005247.2;	T	ENST00000334134	Transcript	missense_variant	365/892	274/720	92/239	F/I	Ttc/Atc		1		-1	FGF3	HGNC	HGNC:3681	protein_coding	YES	CCDS8195.1	ENSP00000334122	P11487		UPI0000040661	NM_005247.2	deleterious(0.04)		2/3		hmmpanther:PTHR11486:SF26,hmmpanther:PTHR11486,Pfam_domain:PF00167,Gene3D:2.80.10.50,SMART_domains:SM00442,Superfamily_domains:SSF50353,Prints_domain:PR00262																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	69816370	69816370	A	T	1	0	0	0	0	1	0	0	0	5717	72	3	4		4	FGF3	11	69816370	Missense_Mutation	SNP	A	C3N-00203_TP	6036	69816370	65270252	293	12241											
TMEM135	0	.	GRCh38	chr11	87038095	87038095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactgctatgagatcggccAcacttggcacccttcctgcc	8	10	8	15	1	0	1	0	1	0	1	2	2	1	1	4	2	3	2	4	2	2	4	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.50A>G	p.His17Arg	p.H17R	ENST00000305494	1/15	455	363	92	367	367	0	strelka-varscan-mutect	TMEM135,missense_variant,p.His17Arg,ENST00000340353,NM_001168724.1;TMEM135,missense_variant,p.His17Arg,ENST00000305494,NM_022918.3;TMEM135,missense_variant,p.His17Arg,ENST00000525018,;TMEM135,missense_variant,p.His17Arg,ENST00000526733,;TMEM135,splice_region_variant,,ENST00000532959,;TMEM135,non_coding_transcript_exon_variant,,ENST00000529023,;	G	ENST00000305494	Transcript	missense_variant	89/2433	50/1377	17/458	H/R	cAc/cGc		1		1	TMEM135	HGNC	HGNC:26167	protein_coding	YES	CCDS8280.1	ENSP00000306344	Q86UB9		UPI00001FB0C7	NM_022918.3	deleterious(0)		1/15		hmmpanther:PTHR12459,hmmpanther:PTHR12459:SF3,Pfam_domain:PF15982																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	42	87038095	87038095	A	G	1	0	0	0	0	1	0	0	0	16496	173	6	5		5	TMEM135	11	87038095	Missense_Mutation	SNP	A	C3N-00203_TP	17221725	87038095	48048527	294	12242											
CASP4	0	.	GRCh38	chr11	104949720	104949720	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagtaccaagaatgtgcTgtcagaggacttgtgctctg	10	11	12	8	0	2	3	1	1	1	2	2	4	2	4	1	1	3	3	1	1	3	2	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.604A>T	p.Ser202Cys	p.S202C	ENST00000444739	5/9	508	323	185	332	332	0	strelka-varscan-mutect	CASP4,missense_variant,p.Ser202Cys,ENST00000444739,NM_001225.3;CASP4,missense_variant,p.Ser146Cys,ENST00000393150,NM_033306.2;CASP4,downstream_gene_variant,,ENST00000417440,;CASP4,upstream_gene_variant,,ENST00000533252,;CASP4,non_coding_transcript_exon_variant,,ENST00000531333,;CASP4,non_coding_transcript_exon_variant,,ENST00000529183,;CASP4,non_coding_transcript_exon_variant,,ENST00000529565,;CASP4,non_coding_transcript_exon_variant,,ENST00000533730,;CASP4,non_coding_transcript_exon_variant,,ENST00000524843,;CASP4,downstream_gene_variant,,ENST00000531546,;CASP4,upstream_gene_variant,,ENST00000534356,;CASP4,upstream_gene_variant,,ENST00000525116,;CASP4,upstream_gene_variant,,ENST00000530309,;	A	ENST00000444739	Transcript	missense_variant	1515/2158	604/1134	202/377	S/C	Agc/Tgc		1		-1	CASP4	HGNC	HGNC:1505	protein_coding	YES	CCDS8327.1	ENSP00000388566	P49662		UPI000003AEFA	NM_001225.3	deleterious(0)		5/9		Gene3D:3.40.50.1460,Pfam_domain:PF00656,PROSITE_patterns:PS01121,PROSITE_profiles:PS50208,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF149,SMART_domains:SM00115,Superfamily_domains:SSF52129																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	104949720	104949720	T	A	1	0	0	0	0	1	0	0	0	2373	1580	55	4		4	CASP4	11	104949720	Missense_Mutation	SNP	T	C3N-00203_TP	17911625	104949720	30136902	295	12243											
MSANTD4	0	.	GRCh38	chr11	106010515	106010515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcagttaaggatccacCtgcatccctgaaatctgcca	11	9	7	14	0	2	1	1	1	1	0	4	3	4	2	5	1	2	2	5	1	2	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.403G>T	p.Gly135Cys	p.G135C	ENST00000301919	2/3	210	182	28	129	128	1	strelka-varscan-mutect	MSANTD4,missense_variant,p.Gly135Cys,ENST00000301919,NM_032424.1;MSANTD4,missense_variant,p.Gly135Cys,ENST00000530788,;MSANTD4,missense_variant,p.Gly23Cys,ENST00000617528,;MSANTD4,downstream_gene_variant,,ENST00000530108,;MSANTD4,downstream_gene_variant,,ENST00000534458,;MSANTD4,upstream_gene_variant,,ENST00000529805,;	A	ENST00000301919	Transcript	missense_variant	1819/4087	403/1038	135/345	G/C	Ggt/Tgt		1		-1	MSANTD4	HGNC	HGNC:29383	protein_coding	YES	CCDS31663.1	ENSP00000304713	Q8NCY6		UPI0000073CF1	NM_032424.1	deleterious(0.01)		2/3		hmmpanther:PTHR21732																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	106010515	106010515	C	A	1	0	0	0	0	1	0	0	0	9850	681	24	2		2	MSANTD4	11	106010515	Missense_Mutation	SNP	C	C3N-00203_TP	1060795	106010515	29076107	296	12244											
TECTA	0	.	GRCh38	chr11	121129796	121129796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgtccaccacatacttCaattgcacagggggcttgtg	8	10	11	12	1	1	0	1	0	0	0	2	0	2	0	2	3	2	3	2	3	2	4	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.2526C>A	p.Phe842Leu	p.F842L	ENST00000392793	10/24	434	354	80	343	343	0	strelka-varscan-mutect	TECTA,missense_variant,p.Phe842Leu,ENST00000392793,;TECTA,missense_variant,p.Phe842Leu,ENST00000264037,NM_005422.2;	A	ENST00000392793	Transcript	missense_variant	2797/7426	2526/6468	842/2155	F/L	ttC/ttA		1		1	TECTA	HGNC	HGNC:11720	protein_coding	YES	CCDS8434.1	ENSP00000376543	O75443		UPI000045659D		tolerated(0.53)		10/24		PROSITE_profiles:PS51233,Pfam_domain:PF00094,SMART_domains:SM00216																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	42	121129796	121129796	C	A	1	0	0	0	0	1	0	0	0	16158	825	29	2		2	TECTA	11	121129796	Missense_Mutation	SNP	C	C3N-00203_TP	15119281	121129796	13956826	297	12245											
OR10G4	0	.	GRCh38	chr11	124016168	124016168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagccaacgtgatggtcatCtttgtggacattgggatagt	9	13	12	7	1	3	1	2	1	1	0	3	3	3	3	1	3	2	0	1	3	2	3			C3N-00203_TP	C3N-00203_NB	C	C																c.594C>T	p.=	p.I198I	ENST00000320891	1/1	290	234	56	256	256	0	strelka-varscan-mutect	OR10G4,synonymous_variant,p.=,ENST00000320891,NM_001004462.1;	T	ENST00000320891	Transcript	synonymous_variant	594/936	594/936	198/311	I	atC/atT	COSM313479	1		1	OR10G4	HGNC	HGNC:14809	protein_coding	YES	CCDS31702.1	ENSP00000325076	Q8NGN3	A0A126GWS5	UPI0000041BAD	NM_001004462.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF6,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	42	124016168	124016168	C	T	1	0	0	0	0	0	0	0	1	10977	903	32	3		3	OR10G4	11	124016168	Silent	SNP	C	C3N-00203_TP	2886372	124016168	11070454	298	12246											
OR8G5	0	.	GRCh38	chr11	124265456	124265456	+	Frame_Shift_Del	DEL	C	C	-																															tgcaaatttgatgtgatcaaCcattatttctgtgatcttat																								novel		C3N-00203_TP	C3N-00203_NB	C	C																c.631delC	p.His211IlefsTer10	p.H211Ifs*10	ENST00000524943	1/1	196	153	43	234	234	0	sindel-varindel-pindel	OR8G5,frameshift_variant,p.His211IlefsTer10,ENST00000524943,NM_001005198.1;	-	ENST00000524943	Transcript	frameshift_variant	630/1041	630/1041	210/346	N/X	aaC/aa		1		1	OR8G5	HGNC	HGNC:19622	protein_coding	YES	CCDS66256.1	ENSP00000477014	Q8NG78	A0A126GVX5	UPI00003B286B	NM_001005198.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF73,Superfamily_domains:SSF81321																	HIGH	1	deletion		1		1										PASS		.	.												-	7	5	42	124265456	124265456	C	-	1	0	1	0	1	0	0	0	0	11304	506	18	0		0	OR8G5	11	124265456	Frame_Shift_Del	DEL	C	C3N-00203_TP	249288	124265456	10821166	299	12247											
OR8B3	0	.	GRCh38	chr11	124397050	124397050	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaagagaaagaaaaacAgctgagtcatgcacccaaca	22	3	7	9	0	1	3	1	1	0	2	1	4	1	3	1	0	4	2	1	0	7	0	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.302T>A	p.Leu101Gln	p.L101Q	ENST00000354597	1/1	336	278	58	356	356	0	strelka-varscan-mutect	OR8B3,missense_variant,p.Leu101Gln,ENST00000354597,NM_001005467.1;	T	ENST00000354597	Transcript	missense_variant	319/987	302/942	101/313	L/Q	cTg/cAg		1		-1	OR8B3	HGNC	HGNC:8472	protein_coding	YES	CCDS31709.1	ENSP00000346611	Q8NGG8		UPI000004B9C9	NM_001005467.1	deleterious_low_confidence(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF258,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	42	124397050	124397050	A	T	1	0	0	0	0	1	0	0	0	11298	188	7	4		4	OR8B3	11	124397050	Missense_Mutation	SNP	A	C3N-00203_TP	131594	124397050	10689572	300	12248											
PRDM10	0	.	GRCh38	chr11	129914739	129914739	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacttgcagctgtatgtgctGaggctgctggaggccagacg	7	9	15	10	1	0	2	0	1	0	1	0	3	0	3	1	3	4	6	1	3	1	2			C3N-00203_TP	C3N-00203_NB	G	G																c.2818C>G	p.Gln940Glu	p.Q940E	ENST00000358825	18/22	267	198	69	245	245	0	strelka-varscan-mutect	PRDM10,missense_variant,p.Gln940Glu,ENST00000358825,NM_020228.2;PRDM10,missense_variant,p.Gln936Glu,ENST00000360871,NM_199437.1;PRDM10,missense_variant,p.Gln910Glu,ENST00000528746,;PRDM10,missense_variant,p.Gln854Glu,ENST00000423662,NM_199438.1;PRDM10,missense_variant,p.Gln850Glu,ENST00000304538,NM_199439.1;PRDM10,missense_variant,p.Gln854Glu,ENST00000526082,;PRDM10,missense_variant,p.Gln653Glu,ENST00000533431,;	C	ENST00000358825	Transcript	missense_variant	3050/6322	2818/3483	940/1160	Q/E	Cag/Gag	COSM3935380	1		-1	PRDM10	HGNC	HGNC:13995	protein_coding	YES	CCDS44771.1	ENSP00000351686	Q9NQV6		UPI00002371B3	NM_020228.2	deleterious_low_confidence(0.02)		18/22		Low_complexity_(Seg):seg,hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF30											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	42	129914739	129914739	G	C	1	0	0	0	0	1	0	0	0	12582	1299	45	4		4	PRDM10	11	129914739	Missense_Mutation	SNP	G	C3N-00203_TP	5517689	129914739	5171883	301	12249											
ADAMTS8	0	.	GRCh38	chr11	130414619	130414619	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgccgtcagcccagggcAggctgccattcttcgtgtgg	4	9	15	13	3	2	0	1	0	1	0	3	0	2	0	3	3	3	2	3	3	0	2	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.1478T>A	p.Leu493Gln	p.L493Q	ENST00000257359	5/9	161	126	35	153	153	0	strelka-varscan-mutect	ADAMTS8,missense_variant,p.Leu493Gln,ENST00000257359,NM_007037.4;ADAMTS8,upstream_gene_variant,,ENST00000531752,;	T	ENST00000257359	Transcript	missense_variant	2185/4010	1478/2670	493/889	L/Q	cTg/cAg		1		-1	ADAMTS8	HGNC	HGNC:224	protein_coding	YES	CCDS41732.1	ENSP00000257359	Q9UP79		UPI000013CF5D	NM_007037.4	deleterious(0)		5/9		hmmpanther:PTHR13723:SF41,hmmpanther:PTHR13723,SMART_domains:SM00608																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	130414619	130414619	A	T	1	0	0	0	0	1	0	0	0	316	188	7	4		4	ADAMTS8	11	130414619	Missense_Mutation	SNP	A	C3N-00203_TP	499880	130414619	4672003	302	12250											
WNK1	0	.	GRCh38	chr12	894602	894602	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcctagcaactagttcAggagctggtgtttttaagat	9	14	10	8	0	1	1	1	0	0	1	2	2	2	2	2	2	3	4	2	2	4	6	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.6306A>T	p.=	p.S2102S	ENST00000340908	23/28	827	648	179	464	464	0	strelka-varscan-mutect	WNK1,synonymous_variant,p.=,ENST00000530271,;WNK1,synonymous_variant,p.=,ENST00000537687,NM_001184985.1;WNK1,synonymous_variant,p.=,ENST00000340908,NM_213655.4;WNK1,synonymous_variant,p.=,ENST00000315939,NM_018979.3;WNK1,synonymous_variant,p.=,ENST00000535572,NM_014823.2;WNK1,upstream_gene_variant,,ENST00000542424,;	T	ENST00000340908	Transcript	synonymous_variant	6949/11208	6306/7905	2102/2634	S	tcA/tcT		1		1	WNK1	HGNC	HGNC:14540	protein_coding	YES	CCDS73419.1	ENSP00000341292	Q9H4A3		UPI0001DD21C4	NM_213655.4			23/28		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF46																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	42	894602	894602	A	T	1	0	0	0	0	0	0	0	1	17933	175	7	4		4	WNK1	12	894602	Silent	SNP	A	C3N-00203_TP		894602	132380707	303	12251											
GRIN2B	0	.	GRCh38	chr12	13564458	13564458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatagacggatgactccCgtcggatgaagtccagggcg	9	8	14	10	4	1	3	1	2	0	1	4	5	3	5	2	3	0	0	2	3	2	1	rs199677214		C3N-00203_TP	C3N-00203_NB	C	C																c.2780G>A	p.Arg927Gln	p.R927Q	ENST00000609686	13/13	438	354	84	379	379	0	strelka-varscan-mutect	GRIN2B,missense_variant,p.Arg927Gln,ENST00000609686,NM_000834.3;GRIN2B,intron_variant,,ENST00000637214,;GRIN2B,non_coding_transcript_exon_variant,,ENST00000628166,;GRIN2B,upstream_gene_variant,,ENST00000636207,;	T	ENST00000609686	Transcript	missense_variant	3234/30355	2780/4455	927/1484	R/Q	cGg/cAg	rs199677214,COSM244810	1		-1	GRIN2B	HGNC	HGNC:4586	protein_coding	YES	CCDS8662.1	ENSP00000477455	Q13224		UPI000013026C	NM_000834.3	tolerated(0.11)		13/13		Pfam_domain:PF10565											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs199677214	.												T	3	4	42	13564458	13564458	C	T	1	0	0	0	0	1	0	0	0	6662	652	23	1		1	GRIN2B	12	13564458	Missense_Mutation	SNP	C	C3N-00203_TP	12669856	13564458	119710851	304	12252											
GOLT1B	0	.	GRCh38	chr12	21507942	21507942	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaatatttctcccatccatAgaaactcctgtagcctatga	12	13	4	12	0	2	2	1	1	1	1	5	2	4	2	4	0	2	1	4	0	6	5	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.118-2A>G		p.X40_splice	ENST00000631252		261	217	44	166	166	0	strelka-varscan-mutect	GOLT1B,splice_acceptor_variant,,ENST00000631252,;GOLT1B,intron_variant,,ENST00000229314,NM_016072.4;GOLT1B,intron_variant,,ENST00000540141,;GOLT1B,intron_variant,,ENST00000542038,;GOLT1B,intron_variant,,ENST00000535593,;GOLT1B,intron_variant,,ENST00000545093,;GOLT1B,splice_acceptor_variant,,ENST00000539025,;GOLT1B,splice_acceptor_variant,,ENST00000539663,;GOLT1B,intron_variant,,ENST00000542194,;GOLT1B,downstream_gene_variant,,ENST00000545113,;	G	ENST00000631252	Transcript	splice_acceptor_variant	-/223	118/129	40/42				1		1	GOLT1B	HGNC	HGNC:20175	protein_coding			ENSP00000486919		F5GXH6	UPI000204ABFD					2/2																		HIGH		SNV	3			1										PASS		.	.												G	5	3	42	21507942	21507942	A	G	1	0	0	0	0	0	0	1	0	6465	434	15	5		5	GOLT1B	12	21507942	Splice_Site	SNP	A	C3N-00203_TP	7943484	21507942	111767367	305	12253											
TM7SF3	0	.	GRCh38	chr12	26999651	26999651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtccactggcagtgcctGtttccgaggaattggaaagg	9	9	13	10	1	0	0	0	0	0	0	2	3	2	2	4	4	1	2	4	4	2	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.272C>A	p.Thr91Lys	p.T91K	ENST00000343028	3/12	240	153	87	120	118	2	strelka-varscan-mutect	TM7SF3,missense_variant,p.Thr91Lys,ENST00000343028,NM_016551.2;TM7SF3,missense_variant,p.Thr70Lys,ENST00000512808,;TM7SF3,missense_variant,p.Thr96Lys,ENST00000545600,;TM7SF3,splice_region_variant,,ENST00000539741,;TM7SF3,5_prime_UTR_variant,,ENST00000543088,;TM7SF3,5_prime_UTR_variant,,ENST00000535423,;TM7SF3,intron_variant,,ENST00000535819,;TM7SF3,intron_variant,,ENST00000543803,;TM7SF3,intron_variant,,ENST00000543655,;TM7SF3,upstream_gene_variant,,ENST00000545303,;TM7SF3,non_coding_transcript_exon_variant,,ENST00000542667,;TM7SF3,downstream_gene_variant,,ENST00000539399,;TM7SF3,missense_variant,p.Asn39Lys,ENST00000542019,;TM7SF3,upstream_gene_variant,,ENST00000535260,;TM7SF3,upstream_gene_variant,,ENST00000543882,;	T	ENST00000343028	Transcript	missense_variant	498/2709	272/1713	91/570	T/K	aCa/aAa		1		-1	TM7SF3	HGNC	HGNC:23049	protein_coding	YES	CCDS8710.1	ENSP00000342322	Q9NS93		UPI0000136849	NM_016551.2	deleterious(0.01)		3/12		hmmpanther:PTHR15937																	MODERATE	1	SNV	1			1										PASS		rs1222894123	.												T	3	4	42	26999651	26999651	G	T	1	0	0	0	0	1	0	0	0	16420	1377	48	2		2	TM7SF3	12	26999651	Missense_Mutation	SNP	G	C3N-00203_TP	5491709	26999651	106275658	306	12254											
TSPAN11	0	.	GRCh38	chr12	30982573	30982573	+	Frame_Shift_Del	DEL	C	C	-																															agctcagccgactggcagcaCagcacgtacatcctgttgcg																								rs777669603		C3N-00203_TP	C3N-00203_NB	C	C																c.498delC	p.His166GlnfsTer141	p.H166Qfs*141	ENST00000261177	6/8	133	92	41	79	79	0	sindel-varindel-pindel	TSPAN11,frameshift_variant,p.His166GlnfsTer141,ENST00000261177,NM_001080509.2;TSPAN11,frameshift_variant,p.His166GlnfsTer141,ENST00000546076,;TSPAN11,frameshift_variant,p.His95GlnfsTer141,ENST00000535215,;RP11-551L14.4,intron_variant,,ENST00000613860,;RP11-551L14.4,upstream_gene_variant,,ENST00000612219,;RP11-551L14.4,downstream_gene_variant,,ENST00000625497,;	-	ENST00000261177	Transcript	frameshift_variant	557/5505	498/762	166/253	H/X	caC/ca	rs777669603,COSM2205208	1		1	TSPAN11	HGNC	HGNC:30795	protein_coding	YES	CCDS31765.1	ENSP00000261177	A1L157		UPI00001AE7E4	NM_001080509.2			6/8		hmmpanther:PTHR19282:SF198,hmmpanther:PTHR19282,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Superfamily_domains:0037997											0,1						HIGH	1	deletion	1		0,1	1										PASS		.	.												-	7	5	42	30982573	30982573	C	-	1	0	1	0	1	0	0	0	0	17140	477	17	0		0	TSPAN11	12	30982573	Frame_Shift_Del	DEL	C	C3N-00203_TP	3982922	30982573	102292736	307	12255											
KIAA1551	0	.	GRCh38	chr12	31983824	31983824	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagactttggttttcaaaaaGataaacctgtacagtgcaca	16	11	7	7	0	1	2	1	0	0	2	1	2	1	2	1	1	3	3	1	1	6	5	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.2869G>C	p.Asp957His	p.D957H	ENST00000312561	4/6	287	216	71	185	185	0	strelka-varscan-mutect	KIAA1551,missense_variant,p.Asp957His,ENST00000312561,NM_018169.3;KIAA1551,downstream_gene_variant,,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	C	ENST00000312561	Transcript	missense_variant	3283/6230	2869/5244	957/1747	D/H	Gat/Cat		1		1	KIAA1551	HGNC	HGNC:25559	protein_coding	YES	CCDS8725.2	ENSP00000310338	Q9HCM1		UPI0000577B2F	NM_018169.3	deleterious(0)		4/6		Pfam_domain:PF15395,hmmpanther:PTHR21604																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	31983824	31983824	G	C	1	0	0	0	0	1	0	0	0	8122	942	33	4		4	KIAA1551	12	31983824	Missense_Mutation	SNP	G	C3N-00203_TP	1001251	31983824	101291485	308	12256											
TMEM117	0	.	GRCh38	chr12	43844842	43844842	+	Frame_Shift_Del	DEL	G	G	-																															ataccctagaggagttggctGgaggattttgaaggtgcttc																								novel		C3N-00203_TP	C3N-00203_NB	G	G																c.192delG	p.Trp64Ter	p.W64*	ENST00000266534	2/8	258	204	54	261	261	0	sindel-varindel-pindel	TMEM117,frameshift_variant,p.Trp64Ter,ENST00000266534,NM_032256.2;TMEM117,frameshift_variant,p.Trp64Ter,ENST00000551577,NM_001286211.1;TMEM117,upstream_gene_variant,,ENST00000550495,NM_001286213.1;TMEM117,frameshift_variant,p.Trp64Ter,ENST00000546868,;TMEM117,non_coding_transcript_exon_variant,,ENST00000546387,;	-	ENST00000266534	Transcript	frameshift_variant	318/2758	191/1545	64/514	W/X	tGg/tg		1		1	TMEM117	HGNC	HGNC:25308	protein_coding	YES	CCDS8745.1	ENSP00000266534	Q9H0C3		UPI0000037D18	NM_032256.2			2/8		Pfam_domain:PF15113,hmmpanther:PTHR31226																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	42	43844842	43844842	G	-	1	0	1	0	1	0	0	0	0	16475	1357	47	0		0	TMEM117	12	43844842	Frame_Shift_Del	DEL	G	C3N-00203_TP	11861018	43844842	89430467	309	12257											
NELL2	0	.	GRCh38	chr12	44815997	44815997	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatttacctgtgatccaaGtggtgaattgagagaataac	14	11	9	7	0	0	4	0	3	0	1	1	5	1	4	2	1	2	0	2	1	5	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.474C>G	p.His158Gln	p.H158Q	ENST00000437801	4/21	238	186	52	227	227	0	strelka-varscan-mutect	NELL2,missense_variant,p.His108Gln,ENST00000429094,NM_001145108.1;NELL2,missense_variant,p.His158Gln,ENST00000437801,NM_001145107.1;NELL2,missense_variant,p.His107Gln,ENST00000395487,NM_001145109.1;NELL2,missense_variant,p.His108Gln,ENST00000452445,NM_006159.2;NELL2,missense_variant,p.His107Gln,ENST00000551601,;NELL2,missense_variant,p.His107Gln,ENST00000549027,;NELL2,missense_variant,p.His131Gln,ENST00000333837,NM_001145110.1;NELL2,missense_variant,p.His108Gln,ENST00000552993,;NELL2,missense_variant,p.His107Gln,ENST00000548531,;NELL2,missense_variant,p.His105Gln,ENST00000553120,;NELL2,missense_variant,p.His108Gln,ENST00000548826,;NELL2,non_coding_transcript_exon_variant,,ENST00000547172,;NELL2,non_coding_transcript_exon_variant,,ENST00000547751,;	C	ENST00000437801	Transcript	missense_variant	846/3279	474/2601	158/866	H/Q	caC/caG		1		-1	NELL2	HGNC	HGNC:7751	protein_coding	YES	CCDS44863.1	ENSP00000416341	Q99435		UPI000191537D	NM_001145107.1	tolerated(0.11)		4/21		hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF0,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,SMART_domains:SM00210,Superfamily_domains:SSF49899																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	42	44815997	44815997	G	C	1	0	0	0	0	1	0	0	0	10365	1020	36	4		4	NELL2	12	44815997	Missense_Mutation	SNP	G	C3N-00203_TP	971155	44815997	88459312	310	12258											
DBX2	0	.	GRCh38	chr12	45016470	45016470	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgttgggggacgtcccatAttgaaggacatggagaaggg	10	8	17	6	1	0	2	0	1	0	1	1	5	1	4	1	5	0	2	1	5	3	3	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.836T>C	p.Ile279Thr	p.I279T	ENST00000332700	4/4	165	124	41	136	136	0	strelka-varscan-mutect	DBX2,missense_variant,p.Ile279Thr,ENST00000332700,NM_001004329.2;	G	ENST00000332700	Transcript	missense_variant	1008/2806	836/1020	279/339	I/T	aTa/aCa		1		-1	DBX2	HGNC	HGNC:33186	protein_coding	YES	CCDS31781.1	ENSP00000331470	Q6ZNG2		UPI000041A784	NM_001004329.2	deleterious(0.01)		4/4		hmmpanther:PTHR24331,hmmpanther:PTHR24331:SF4																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	42	45016470	45016470	A	G	1	0	0	0	0	1	0	0	0	4060	449	16	5		5	DBX2	12	45016470	Missense_Mutation	SNP	A	C3N-00203_TP	200473	45016470	88258839	311	12259											
OR8S1	0	.	GRCh38	chr12	48526431	48526431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catgccaaactcaggttcccCcatagagttgatcttctctg	9	12	7	13	0	3	2	1	1	2	1	5	2	4	2	3	1	2	2	3	1	2	4	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.800C>T	p.Pro267Leu	p.P267L	ENST00000310194	1/2	323	261	62	271	270	1	strelka-varscan-mutect	OR8S1,missense_variant,p.Pro267Leu,ENST00000310194,NM_001005203.2;OR8S1,intron_variant,,ENST00000551654,;	T	ENST00000310194	Transcript	missense_variant	800/1080	800/1080	267/359	P/L	cCc/cTc		1		1	OR8S1	HGNC	HGNC:19628	protein_coding	YES	CCDS31789.1	ENSP00000310632	Q8NH09		UPI000013EFC1	NM_001005203.2	tolerated(0.26)		1/2		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF379,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	42	48526431	48526431	C	T	1	0	0	0	0	1	0	0	0	11313	623	22	3		3	OR8S1	12	48526431	Missense_Mutation	SNP	C	C3N-00203_TP	3509961	48526431	84748878	312	12260											
SCN8A	0	.	GRCh38	chr12	51807034	51807034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcttggacatcctttttGccttcaccaagcgggtcctg	6	13	9	13	1	1	0	1	0	0	0	3	1	3	1	4	2	3	1	4	2	1	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.5548G>C	p.Ala1850Pro	p.A1850P	ENST00000354534	27/27	504	396	108	360	360	0	strelka-varscan-mutect	SCN8A,missense_variant,p.Ala1850Pro,ENST00000354534,NM_014191.3;SCN8A,missense_variant,p.Ala1809Pro,ENST00000545061,NM_001177984.2;SCN8A,missense_variant,p.Ala1861Pro,ENST00000599343,;SCN8A,missense_variant,p.Ala1850Pro,ENST00000627620,;SCN8A,missense_variant,p.Ala1809Pro,ENST00000355133,;RP11-923I11.3,downstream_gene_variant,,ENST00000565518,;SCN8A,3_prime_UTR_variant,,ENST00000637709,;SCN8A,3_prime_UTR_variant,,ENST00000636945,;	C	ENST00000354534	Transcript	missense_variant	5726/11556	5548/5943	1850/1980	A/P	Gcc/Ccc		1		1	SCN8A	HGNC	HGNC:10596	protein_coding	YES	CCDS44891.1	ENSP00000346534	Q9UQD0		UPI000006FD85	NM_014191.3	deleterious(0)		27/27		hmmpanther:PTHR10037:SF23,hmmpanther:PTHR10037																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	51807034	51807034	G	C	1	0	0	0	0	1	0	0	0	14193	1319	46	4		4	SCN8A	12	51807034	Missense_Mutation	SNP	G	C3N-00203_TP	3280603	51807034	81468275	313	12261											
LRP1	0	.	GRCh38	chr12	57199379	57199379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggacctgcatgtcttcCatgccctgcgccagccagac	7	8	9	17	1	1	1	0	0	1	1	2	2	2	2	6	1	4	1	6	1	0	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.9844C>T	p.His3282Tyr	p.H3282Y	ENST00000243077	61/89	174	138	36	115	115	0	strelka-varscan-mutect	LRP1,missense_variant,p.His3282Tyr,ENST00000243077,NM_002332.2;LRP1,upstream_gene_variant,,ENST00000555124,;MIR1228,downstream_gene_variant,,ENST00000408438,;LRP1,upstream_gene_variant,,ENST00000556356,;LRP1,upstream_gene_variant,,ENST00000451724,;LRP1,upstream_gene_variant,,ENST00000556247,;LRP1,upstream_gene_variant,,ENST00000555941,;	T	ENST00000243077	Transcript	missense_variant	10310/14897	9844/13635	3282/4544	H/Y	Cat/Tat		1		1	LRP1	HGNC	HGNC:6692	protein_coding	YES	CCDS8932.1	ENSP00000243077	Q07954		UPI00001B044F	NM_002332.2	deleterious(0.01)		61/89		Gene3D:2.120.10.30,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,Superfamily_domains:SSF57184,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	57199379	57199379	C	T	1	0	0	0	0	1	0	0	0	8846	594	21	3		3	LRP1	12	57199379	Missense_Mutation	SNP	C	C3N-00203_TP	5392345	57199379	76075930	314	12262											
GLI1	0	.	GRCh38	chr12	57467394	57467394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacgcacctgcggtcacAcacgggtgagaagccataca	13	4	12	12	3	1	2	1	1	0	2	1	4	1	2	2	2	3	1	2	2	3	1	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.974A>G	p.His325Arg	p.H325R	ENST00000228682	9/12	154	129	25	106	106	0	strelka-varscan-mutect	GLI1,missense_variant,p.His325Arg,ENST00000228682,NM_005269.2;GLI1,missense_variant,p.His284Arg,ENST00000546141,NM_001167609.1;GLI1,missense_variant,p.His197Arg,ENST00000543426,NM_001160045.1;GLI1,missense_variant,p.His284Arg,ENST00000528467,;ARHGAP9,downstream_gene_variant,,ENST00000393797,NM_001319850.1;ARHGAP9,downstream_gene_variant,,ENST00000550288,;ARHGAP9,downstream_gene_variant,,ENST00000393791,NM_032496.2;ARHGAP9,downstream_gene_variant,,ENST00000424809,NM_001080157.1;ARHGAP9,downstream_gene_variant,,ENST00000430041,NM_001080156.1;GLI1,downstream_gene_variant,,ENST00000532291,;ARHGAP9,downstream_gene_variant,,ENST00000550399,;GLI1,downstream_gene_variant,,ENST00000528432,;ARHGAP9,downstream_gene_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000552953,;GLI1,downstream_gene_variant,,ENST00000527742,;GLI1,downstream_gene_variant,,ENST00000530789,;	G	ENST00000228682	Transcript	missense_variant	1065/3613	974/3321	325/1106	H/R	cAc/cGc		1		1	GLI1	HGNC	HGNC:4317	protein_coding	YES	CCDS8940.1	ENSP00000228682	P08151		UPI000012B607	NM_005269.2	deleterious(0)		9/12		PROSITE_profiles:PS50157,hmmpanther:PTHR19818:SF2,hmmpanther:PTHR19818,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	42	57467394	57467394	A	G	1	0	0	0	0	1	0	0	0	6315	159	6	5		5	GLI1	12	57467394	Missense_Mutation	SNP	A	C3N-00203_TP	268015	57467394	75807915	315	12263											
IL26	0	.	GRCh38	chr12	68202018	68202018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taaggatttagaattcttacCctataaaatattcttttcat	14	18	3	6	0	3	1	1	0	2	1	3	2	3	2	1	1	1	0	1	1	8	11	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.429G>T	p.Arg143Ser	p.R143S	ENST00000229134	4/5	104	84	20	116	115	1	strelka-varscan-mutect	IL26,missense_variant,p.Arg143Ser,ENST00000229134,NM_018402.1;IFNG-AS1,intron_variant,,ENST00000536914,;	A	ENST00000229134	Transcript	missense_variant,splice_region_variant	494/1075	429/516	143/171	R/S	agG/agT		1		-1	IL26	HGNC	HGNC:17119	protein_coding	YES	CCDS8981.1	ENSP00000229134	Q9NPH9		UPI0000035828	NM_018402.1	tolerated(0.08)		4/5		Gene3D:1.20.1250.10,Pfam_domain:PF00726,hmmpanther:PTHR11585,hmmpanther:PTHR11585:SF11,Superfamily_domains:SSF47266																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	68202018	68202018	C	A	1	0	0	0	0	1	0	0	0	7582	637	22	2		2	IL26	12	68202018	Missense_Mutation	SNP	C	C3N-00203_TP	10734624	68202018	65073291	316	12264											
NAV3	0	.	GRCh38	chr12	77941106	77941106	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagttgaagatatcaaTggatgtcctagaagtcagtc	16	10	10	5	0	2	3	2	1	0	2	4	5	3	4	1	1	0	1	1	1	7	3	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.387T>C	p.=	p.N129N	ENST00000397909	3/40	99	80	19	88	88	0	strelka-varscan-mutect	NAV3,synonymous_variant,p.=,ENST00000397909,NM_001024383.1;NAV3,synonymous_variant,p.=,ENST00000536525,NM_014903.5;NAV3,synonymous_variant,p.=,ENST00000549464,;NAV3,synonymous_variant,p.=,ENST00000550042,;NAV3,non_coding_transcript_exon_variant,,ENST00000549369,;NAV3,non_coding_transcript_exon_variant,,ENST00000551277,;	C	ENST00000397909	Transcript	synonymous_variant	560/9821	387/7158	129/2385	N	aaT/aaC		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1			3/40		PROSITE_profiles:PS50021,hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	42	77941106	77941106	T	C	1	0	0	0	0	0	0	0	1	10194	1461	51	5		5	NAV3	12	77941106	Silent	SNP	T	C3N-00203_TP	9739088	77941106	55334203	317	12265											
NAV3	0	.	GRCh38	chr12	78175308	78175308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccctctattgctagatCttcgcatcagaagacagcat	10	12	6	13	1	4	3	1	0	3	3	6	3	4	3	1	0	2	3	1	0	3	4	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.4984C>A	p.Leu1662Ile	p.L1662I	ENST00000397909	25/40	168	128	40	126	125	1	strelka-varscan-mutect	NAV3,missense_variant,p.Leu1662Ile,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Leu1662Ile,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Leu557Ile,ENST00000552895,;NAV3,missense_variant,p.Leu291Ile,ENST00000550788,;NAV3,upstream_gene_variant,,ENST00000548948,;	A	ENST00000397909	Transcript	missense_variant,splice_region_variant	5157/9821	4984/7158	1662/2385	L/I	Ctt/Att		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	deleterious(0.01)		25/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	78175308	78175308	C	A	1	0	0	0	0	1	0	0	0	10194	927	32	2		2	NAV3	12	78175308	Missense_Mutation	SNP	C	C3N-00203_TP	234202	78175308	55100001	318	12266											
MGAT4C	0	.	GRCh38	chr12	85980130	85980130	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatctacattttgcttggaaCgaaatttgactctatcttct	11	17	5	8	1	4	1	0	1	4	0	4	3	4	2	0	1	3	1	0	1	5	7	rs770702724		C3N-00203_TP	C3N-00203_NB	C	C																c.596G>T	p.Arg199Leu	p.R199L	ENST00000611864	4/4	207	178	29	227	226	1	strelka-varscan-mutect	MGAT4C,missense_variant,p.Arg199Leu,ENST00000611864,;MGAT4C,missense_variant,p.Arg199Leu,ENST00000620241,;MGAT4C,missense_variant,p.Arg199Leu,ENST00000621808,NM_013244.3;MGAT4C,missense_variant,p.Arg199Leu,ENST00000548651,;MGAT4C,missense_variant,p.Arg199Leu,ENST00000552808,;MGAT4C,missense_variant,p.Arg199Leu,ENST00000547225,;MGAT4C,intron_variant,,ENST00000552435,;	A	ENST00000611864	Transcript	missense_variant	652/25116	596/1437	199/478	R/L	cGt/cTt	rs770702724,COSM3399161,COSM3466175,COSM4781811,COSM4897753	1		-1	MGAT4C	HGNC	HGNC:30871	protein_coding	YES	CCDS9030.1	ENSP00000481096	Q9UBM8		UPI00001B002C		deleterious(0)		4/4		Pfam_domain:PF04666,hmmpanther:PTHR12062,hmmpanther:PTHR12062:SF14											0,1,1,1,1						MODERATE	1	SNV	5		0,1,1,1,1	1										PASS		rs770702724	.												A	3	1	42	85980130	85980130	C	A	1	0	0	0	0	1	0	0	0	9507	536	19	1		1	MGAT4C	12	85980130	Missense_Mutation	SNP	C	C3N-00203_TP	7804822	85980130	47295179	319	12267											
C12orf74	0	.	GRCh38	chr12	92706792	92706792	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgcccactttgaggagatTaaggacccgtggctgtggga	8	9	14	10	2	0	2	0	1	0	1	1	5	0	4	2	4	0	1	2	4	1	2	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.161T>A	p.Leu54Ter	p.L54*	ENST00000397833	2/3	288	218	70	237	237	0	strelka-varscan-mutect	C12orf74,stop_gained,p.Leu54Ter,ENST00000544406,NM_001178097.2;C12orf74,stop_gained,p.Leu54Ter,ENST00000397833,NM_001037671.3;	A	ENST00000397833	Transcript	stop_gained	612/1856	161/573	54/190	L/*	tTa/tAa		1		1	C12orf74	HGNC	HGNC:27887	protein_coding	YES	CCDS41819.1	ENSP00000380933	Q32Q52		UPI00005DB386	NM_001037671.3			2/3		Pfam_domain:PF15720,hmmpanther:PTHR41399,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		rs1253814082	.												A	4	1	42	92706792	92706792	T	A	1	0	0	0	0	0	1	0	0	1823	1764	61	4		4	C12orf74	12	92706792	Nonsense_Mutation	SNP	T	C3N-00203_TP	6726662	92706792	40568517	320	12268											
EEA1	0	.	GRCh38	chr12	92864865	92864865	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatcataccgtaccgcttCaaagcaagattagactctcc	13	11	5	12	2	3	2	2	0	1	2	4	2	3	2	3	0	3	3	3	0	6	5	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.240G>T	p.Leu80Phe	p.L80F	ENST00000322349	3/29	120	92	28	113	113	0	strelka-varscan-mutect	EEA1,missense_variant,p.Leu80Phe,ENST00000322349,NM_003566.3;EEA1,non_coding_transcript_exon_variant,,ENST00000547833,;EEA1,3_prime_UTR_variant,,ENST00000553019,;EEA1,intron_variant,,ENST00000418984,;	A	ENST00000322349	Transcript	missense_variant	505/9875	240/4236	80/1411	L/F	ttG/ttT		1		-1	EEA1	HGNC	HGNC:3185	protein_coding	YES	CCDS31874.1	ENSP00000317955	Q15075		UPI000013C754	NM_003566.3	tolerated(0.06)		3/29		hmmpanther:PTHR23164:SF6,hmmpanther:PTHR23164																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	92864865	92864865	C	A	1	0	0	0	0	1	0	0	0	4750	840	29	2		2	EEA1	12	92864865	Missense_Mutation	SNP	C	C3N-00203_TP	158073	92864865	40410444	321	12269											
SOCS2	0	.	GRCh38	chr12	93574720	93574720	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttgaacaaaaaccccAggatggtactggggaagtat	13	11	10	7	0	1	1	0	1	1	0	1	3	1	3	2	4	3	2	2	4	6	4	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.140-2A>T		p.X47_splice	ENST00000622746		89	75	14	85	85	0	strelka-varscan-mutect	SOCS2,splice_acceptor_variant,,ENST00000622746,NM_001270469.1,NM_001270470.1;SOCS2,splice_acceptor_variant,,ENST00000340600,NM_003877.4,NM_001270471.1;SOCS2,splice_acceptor_variant,,ENST00000549122,;SOCS2,splice_acceptor_variant,,ENST00000549206,NM_001270467.1;SOCS2,splice_acceptor_variant,,ENST00000551556,;SOCS2,splice_acceptor_variant,,ENST00000536696,NM_001270468.1;SOCS2,splice_acceptor_variant,,ENST00000549887,;SOCS2,splice_acceptor_variant,,ENST00000548091,;SOCS2,3_prime_UTR_variant,,ENST00000548537,;SOCS2,upstream_gene_variant,,ENST00000551883,;SOCS2,upstream_gene_variant,,ENST00000549510,;SOCS2,downstream_gene_variant,,ENST00000547229,;SOCS2-AS1,upstream_gene_variant,,ENST00000499137,;SOCS2-AS1,upstream_gene_variant,,ENST00000500986,;SOCS2-AS1,upstream_gene_variant,,ENST00000551626,;	T	ENST00000622746	Transcript	splice_acceptor_variant	-/2881	140/597	47/198				1		1	SOCS2	HGNC	HGNC:19382	protein_coding	YES	CCDS9047.1	ENSP00000481249	O14508	A0A024RBD2	UPI0000135B63	NM_001270469.1,NM_001270470.1				2/2																		HIGH		SNV	3			1										PASS		.	.												T	5	4	42	93574720	93574720	A	T	1	0	0	0	0	0	0	1	0	15235	202	7	4		4	SOCS2	12	93574720	Splice_Site	SNP	A	C3N-00203_TP	709855	93574720	39700589	322	12270											
CEP83	0	.	GRCh38	chr12	94333553	94333553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttttaatctctccacCatttccttcagcatttggtt	6	20	4	11	0	3	0	1	0	2	0	6	0	5	0	3	1	1	3	3	1	1	7	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1506G>T	p.Met502Ile	p.M502I	ENST00000397809	13/17	315	268	47	247	247	0	strelka-varscan-mutect	CEP83,missense_variant,p.Met502Ile,ENST00000397809,NM_016122.2;CEP83,missense_variant,p.Met502Ile,ENST00000339839,NM_001042399.1;CEP83,missense_variant,p.Met373Ile,ENST00000397807,;CEP83,upstream_gene_variant,,ENST00000552632,;CEP83,non_coding_transcript_exon_variant,,ENST00000546587,;CEP83,missense_variant,p.Met469Ile,ENST00000547232,;	A	ENST00000397809	Transcript	missense_variant	2056/3773	1506/2106	502/701	M/I	atG/atT		1		-1	CEP83	HGNC	HGNC:17966	protein_coding	YES	CCDS41820.1	ENSP00000380911		J3KNW7	UPI0000D4BD6F	NM_016122.2	tolerated(0.37)		13/17		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23170,hmmpanther:PTHR23170:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	94333553	94333553	C	A	1	0	0	0	0	1	0	0	0	2984	594	21	2		2	CEP83	12	94333553	Missense_Mutation	SNP	C	C3N-00203_TP	758833	94333553	38941756	323	12271											
TMPO	0	.	GRCh38	chr12	98527993	98527993	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgtgaaatacggagtGaatcctggtcctattgtggg	9	12	13	7	1	0	2	0	2	0	0	2	3	2	3	2	3	2	1	2	3	4	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.387G>T	p.=	p.V129V	ENST00000266732	2/4	374	288	86	382	380	2	strelka-varscan-mutect	TMPO,synonymous_variant,p.=,ENST00000556029,NM_001032283.2;TMPO,synonymous_variant,p.=,ENST00000266732,NM_003276.2;TMPO,synonymous_variant,p.=,ENST00000343315,NM_001307975.1;TMPO,synonymous_variant,p.=,ENST00000393053,NM_001032284.2;TMPO,synonymous_variant,p.=,ENST00000261210,;TMPO,synonymous_variant,p.=,ENST00000556678,;TMPO,non_coding_transcript_exon_variant,,ENST00000547214,;TMPO,non_coding_transcript_exon_variant,,ENST00000549938,;TMPO,non_coding_transcript_exon_variant,,ENST00000546828,;TMPO,non_coding_transcript_exon_variant,,ENST00000548911,;TMPO,non_coding_transcript_exon_variant,,ENST00000552831,;	T	ENST00000266732	Transcript	synonymous_variant	625/3615	387/2085	129/694	V	gtG/gtT		1		1	TMPO	HGNC	HGNC:11875	protein_coding	YES	CCDS9064.1	ENSP00000266732	P42166		UPI000013D709	NM_003276.2			2/4		PROSITE_profiles:PS50954,hmmpanther:PTHR12019:SF10,hmmpanther:PTHR12019,Gene3D:1.10.720.40,Pfam_domain:PF03020,SMART_domains:SM00540,Superfamily_domains:SSF63451																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	42	98527993	98527993	G	T	1	0	0	0	0	0	0	0	1	16713	1277	45	2		2	TMPO	12	98527993	Silent	SNP	G	C3N-00203_TP	4194440	98527993	34747316	324	12272											
NR1H4	0	.	GRCh38	chr12	100532557	100532557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagaaagtgtcaagagtGtcgactaaggaaatgcaaag	17	6	13	5	2	1	2	1	0	0	2	2	5	1	3	0	1	1	1	0	1	6	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.575G>T	p.Cys192Phe	p.C192F	ENST00000551379	3/9	330	270	60	275	275	0	strelka-varscan-mutect	NR1H4,missense_variant,p.Cys182Phe,ENST00000548884,NM_005123.3;NR1H4,missense_variant,p.Cys182Phe,ENST00000392986,NM_001206979.1,NM_001206977.1;NR1H4,missense_variant,p.Cys192Phe,ENST00000188403,NM_001206992.1;NR1H4,missense_variant,p.Cys192Phe,ENST00000551379,NM_001206993.1;NR1H4,intron_variant,,ENST00000549996,NM_001206978.1;NR1H4,missense_variant,p.Cys182Phe,ENST00000321046,;	T	ENST00000551379	Transcript	missense_variant	603/1489	575/1461	192/486	C/F	tGt/tTt		1		1	NR1H4	HGNC	HGNC:7967	protein_coding	YES	CCDS55876.1	ENSP00000447149	Q96RI1		UPI000006E701	NM_001206993.1	deleterious(0)		3/9		PROSITE_profiles:PS51030,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF155,Gene3D:3.30.50.10,Pfam_domain:PF00105,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047																	MODERATE	1	SNV	1			1										PASS		rs1197605464	.												T	3	4	42	100532557	100532557	G	T	1	0	0	0	0	1	0	0	0	10675	1377	48	2		2	NR1H4	12	100532557	Missense_Mutation	SNP	G	C3N-00203_TP	2004564	100532557	32742752	325	12273											
UTP20	0	.	GRCh38	chr12	101299725	101299725	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagatccaagggaagaaacGaacagtttccagtattggac	15	8	10	8	1	0	2	0	0	0	2	2	5	2	4	2	2	2	2	2	2	6	4	rs765120524		C3N-00203_TP	C3N-00203_NB	G	G																c.1474G>T	p.Glu492Ter	p.E492*	ENST00000261637	13/62	67	53	14	109	109	0	strelka-varscan-mutect	UTP20,stop_gained,p.Glu492Ter,ENST00000261637,NM_014503.2;	T	ENST00000261637	Transcript	stop_gained	1648/9025	1474/8358	492/2785	E/*	Gaa/Taa	rs765120524,COSM2063214	1		1	UTP20	HGNC	HGNC:17897	protein_coding	YES	CCDS9081.1	ENSP00000261637	O75691		UPI00001FB38B	NM_014503.2			13/62		hmmpanther:PTHR17695,hmmpanther:PTHR17695:SF11,Superfamily_domains:SSF48371											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs765120524	.												T	4	4	42	101299725	101299725	G	T	1	0	0	0	0	0	1	0	0	17642	1059	37	1		1	UTP20	12	101299725	Nonsense_Mutation	SNP	G	C3N-00203_TP	767168	101299725	31975584	326	12274											
TMEM119	0	.	GRCh38	chr12	108591898	108591898	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaatccagggcttcctcGggcctgctgtcgggggctct	4	9	16	12	2	1	0	0	0	1	0	5	2	3	1	3	5	1	3	3	5	1	1	rs748122455		C3N-00203_TP	C3N-00203_NB	G	G																c.486C>A	p.=	p.P162P	ENST00000392806	2/2	114	90	24	99	99	0	strelka-varscan-mutect	TMEM119,synonymous_variant,p.=,ENST00000392806,NM_181724.2;TMEM119,downstream_gene_variant,,ENST00000549031,;TMEM119,downstream_gene_variant,,ENST00000549447,;TMEM119,downstream_gene_variant,,ENST00000547567,;	T	ENST00000392806	Transcript	synonymous_variant	655/2707	486/852	162/283	P	ccC/ccA	rs748122455,COSM1267996	1		-1	TMEM119	HGNC	HGNC:27884	protein_coding	YES	CCDS9119.1	ENSP00000376553	Q4V9L6		UPI0000049333	NM_181724.2			2/2		hmmpanther:PTHR28645,hmmpanther:PTHR28645:SF1,Pfam_domain:PF15724											0,1						LOW	1	SNV	1		0,1	1										PASS		rs748122455	.												T	2	4	42	108591898	108591898	G	T	1	0	0	0	0	0	0	0	1	16476	1103	39	1		1	TMEM119	12	108591898	Silent	SNP	G	C3N-00203_TP	7292173	108591898	24683411	327	12275											
CCDC63	0	.	GRCh38	chr12	110853472	110853472	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggccaaagagcagcAggcggaggcagagctccgga	13	1	18	9	2	0	3	0	0	0	3	1	6	1	5	2	6	3	4	2	6	2	0	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.77A>T	p.Gln26Leu	p.Q26L	ENST00000308208	3/12	289	219	70	183	183	0	strelka-varscan-mutect	CCDC63,missense_variant,p.Gln26Leu,ENST00000308208,NM_152591.2;CCDC63,5_prime_UTR_variant,,ENST00000545036,NM_001286243.1;CCDC63,intron_variant,,ENST00000552694,NM_001286244.1;CCDC63,intron_variant,,ENST00000550317,;	T	ENST00000308208	Transcript	missense_variant	319/1993	77/1692	26/563	Q/L	cAg/cTg		1		1	CCDC63	HGNC	HGNC:26669	protein_coding	YES	CCDS9151.1	ENSP00000312399	Q8NA47		UPI000006F794	NM_152591.2	tolerated(1)		3/12		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21694,hmmpanther:PTHR21694:SF20																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	42	110853472	110853472	A	T	1	0	0	0	0	1	0	0	0	2536	188	7	4		4	CCDC63	12	110853472	Missense_Mutation	SNP	A	C3N-00203_TP	2261574	110853472	22421837	328	12276											
CUX2	0	.	GRCh38	chr12	111312113	111312113	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggcagcatcaccccGagaatccgcacgcctgagac	10	4	9	18	3	1	2	1	1	0	2	3	4	3	2	6	1	1	3	6	1	1	0	rs575614068		C3N-00203_TP	C3N-00203_NB	G	G																c.1914G>T	p.=	p.P638P	ENST00000261726	16/22	94	82	12	71	71	0	strelka-varscan-mutect	CUX2,synonymous_variant,p.=,ENST00000261726,NM_015267.3;	T	ENST00000261726	Transcript	synonymous_variant	2068/6844	1914/4461	638/1486	P	ccG/ccT	rs575614068	1		1	CUX2	HGNC	HGNC:19347	protein_coding	YES	CCDS41837.1	ENSP00000261726	O14529		UPI00001FBB07	NM_015267.3			16/22		hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5																	LOW	1	SNV	1			1										PASS		rs575614068	.												T	2	4	42	111312113	111312113	G	T	1	0	0	0	0	0	0	0	1	3875	1045	37	1		1	CUX2	12	111312113	Silent	SNP	G	C3N-00203_TP	458641	111312113	21963196	329	12277											
MAPKAPK5	0	.	GRCh38	chr12	111890048	111890048	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaccaataggagagaatGaagatgagaaactgaatgaa	19	7	10	5	0	0	6	0	4	0	3	0	9	0	7	2	1	2	0	2	1	8	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1231G>T	p.Glu411Ter	p.E411*	ENST00000551404	13/14	196	141	55	143	143	0	strelka-varscan-mutect	MAPKAPK5,stop_gained,p.Glu409Ter,ENST00000550735,NM_003668.3;MAPKAPK5,stop_gained,p.Glu411Ter,ENST00000551404,NM_139078.2;MAPKAPK5,stop_gained,p.Glu262Ter,ENST00000549875,;MAPKAPK5,non_coding_transcript_exon_variant,,ENST00000547067,;MAPKAPK5,non_coding_transcript_exon_variant,,ENST00000547915,;MAPKAPK5,non_coding_transcript_exon_variant,,ENST00000552111,;MAPKAPK5,downstream_gene_variant,,ENST00000553053,;	T	ENST00000551404	Transcript	stop_gained	1339/1630	1231/1422	411/473	E/*	Gaa/Taa		1		1	MAPKAPK5	HGNC	HGNC:6889	protein_coding	YES	CCDS44975.1	ENSP00000449381	Q8IW41		UPI0000161429	NM_139078.2			13/14		hmmpanther:PTHR24349																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	42	111890048	111890048	G	T	1	0	0	0	0	0	1	0	0	9215	1291	45	2		2	MAPKAPK5	12	111890048	Nonsense_Mutation	SNP	G	C3N-00203_TP	577935	111890048	21385261	330	12278											
TMEM132B	0	.	GRCh38	chr12	125644231	125644231	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattgagatctcagacacCgagctgagccagatcaaggg	13	6	12	10	1	2	5	2	2	1	4	3	7	2	5	2	1	2	1	2	1	1	1	rs758226132		C3N-00203_TP	C3N-00203_NB	C	C																c.1578C>A	p.=	p.T526T	ENST00000299308	6/9	257	207	50	241	239	2	strelka-varscan-mutect	TMEM132B,synonymous_variant,p.=,ENST00000299308,NM_052907.3;TMEM132B,synonymous_variant,p.=,ENST00000613307,NM_001286219.1;TMEM132B,non_coding_transcript_exon_variant,,ENST00000535886,;	A	ENST00000299308	Transcript	synonymous_variant	1586/10906	1578/3237	526/1078	T	acC/acA	rs758226132	1		1	TMEM132B	HGNC	HGNC:29397	protein_coding	YES	CCDS41859.1	ENSP00000299308	Q14DG7		UPI00006BFF58	NM_052907.3			6/9		hmmpanther:PTHR13388:SF12,hmmpanther:PTHR13388,Pfam_domain:PF16070																	LOW	1	SNV	5			1										PASS		rs758226132	.												A	2	1	42	125644231	125644231	C	A	1	0	0	0	0	0	0	0	1	16490	639	23	1		1	TMEM132B	12	125644231	Silent	SNP	C	C3N-00203_TP	13754183	125644231	7631078	331	12279											
TMEM132C	0	.	GRCh38	chr12	128415454	128415454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcccacctgcagaggatcGgcaccgtcggcctttaccgg	6	7	12	16	5	0	1	0	0	0	1	3	2	1	2	5	4	2	2	5	4	1	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.808G>T	p.Gly270Cys	p.G270C	ENST00000435159	2/9	149	120	29	123	123	0	strelka-varscan-mutect	TMEM132C,missense_variant,p.Gly270Cys,ENST00000435159,NM_001136103.2;	T	ENST00000435159	Transcript	missense_variant	808/4947	808/3327	270/1108	G/C	Ggc/Tgc		1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2	deleterious(0)		2/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4																	MODERATE	1	SNV	5			1										PASS		rs955800347	.												T	3	4	42	128415454	128415454	G	T	1	0	0	0	0	1	0	0	0	16491	1116	39	1		1	TMEM132C	12	128415454	Missense_Mutation	SNP	G	C3N-00203_TP	2771223	128415454	4859855	332	12280											
TMEM132D	0	.	GRCh38	chr12	129699809	129699809	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agacattgggaaacgacttaCctcaacgtgaagcgatcttc	13	9	9	10	3	2	2	1	1	1	1	3	5	2	3	1	1	4	0	1	1	4	3	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.968+1G>T		p.X323_splice	ENST00000422113		89	68	21	89	89	0	strelka-varscan-mutect	TMEM132D,splice_donor_variant,,ENST00000422113,NM_133448.2;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	A	ENST00000422113	Transcript	splice_donor_variant	-/5776	968/3300	323/1099				1		-1	TMEM132D	HGNC	HGNC:29411	protein_coding	YES	CCDS9266.1	ENSP00000408581	Q14C87		UPI000023759C	NM_133448.2				2/8																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	42	129699809	129699809	C	A	1	0	0	0	0	0	0	1	0	16492	521	18	2		2	TMEM132D	12	129699809	Splice_Site	SNP	C	C3N-00203_TP	1284355	129699809	3575500	333	12281											
RIMBP2	0	.	GRCh38	chr12	130414250	130414250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggagctcttcggcaccagGgtcagtttctgactcttcat	6	12	11	12	2	5	1	2	1	3	0	6	2	5	2	1	3	1	3	1	3	0	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.2527C>A	p.Pro843Thr	p.P843T	ENST00000261655	14/19	77	64	13	82	82	0	strelka-varscan-mutect	RIMBP2,missense_variant,p.Pro843Thr,ENST00000261655,NM_015347.4;RIMBP2,5_prime_UTR_variant,,ENST00000536632,;	T	ENST00000261655	Transcript	missense_variant	2691/6321	2527/3159	843/1052	P/T	Cct/Act		1		-1	RIMBP2	HGNC	HGNC:30339	protein_coding	YES	CCDS31925.1	ENSP00000261655	O15034		UPI00001C1F42	NM_015347.4	tolerated(0.1)		14/19		hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	130414250	130414250	G	T	1	0	0	0	0	1	0	0	0	13538	1232	43	2		2	RIMBP2	12	130414250	Missense_Mutation	SNP	G	C3N-00203_TP	714441	130414250	2861059	334	12282											
GALNT9	0	.	GRCh38	chr12	132197225	132197225	+	Frame_Shift_Del	DEL	C	C	-																															tctccacctccaggcagcggCccgtggcccggctcacaatg																								rs745851728		C3N-00203_TP	C3N-00203_NB	C	C																c.596delG	p.Gly199AlafsTer29	p.G199Afs*29	ENST00000397325	7/7	208	165	43	131	131	0	sindel-varindel-pindel	GALNT9,frameshift_variant,p.Gly565AlafsTer29,ENST00000328957,;GALNT9,frameshift_variant,p.Gly199AlafsTer29,ENST00000397325,NM_021808.3;GALNT9,frameshift_variant,p.Gly338AlafsTer29,ENST00000411988,;GALNT9,frameshift_variant,p.Gly199AlafsTer29,ENST00000541995,NM_001122636.1;GALNT9,downstream_gene_variant,,ENST00000538356,;RP13-977J11.3,upstream_gene_variant,,ENST00000623965,;	-	ENST00000397325	Transcript	frameshift_variant	874/1727	596/714	199/237	G/X	gGc/gc	rs745851728	1		-1	GALNT9	HGNC	HGNC:4131	protein_coding	YES	CCDS41866.1	ENSP00000380488	Q9HCQ5		UPI000006CCBE	NM_021808.3			7/7		PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF28,Gene3D:2.80.10.50,Pfam_domain:PF00652,SMART_domains:SM00458,Superfamily_domains:SSF50370																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	42	132197225	132197225	C	-	1	0	1	0	1	0	0	0	0	6091	739	26	0		0	GALNT9	12	132197225	Frame_Shift_Del	DEL	C	C3N-00203_TP	1782975	132197225	1078084	335	12283											
SACS	0	.	GRCh38	chr13	23334413	23334413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtccagtgtgatgagaaGgggcaatccctcaacttcaa	12	9	10	10	0	2	2	2	2	0	1	4	3	4	2	2	2	1	1	2	2	4	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.9463C>G	p.Leu3155Val	p.L3155V	ENST00000382292	9/9	176	129	47	215	215	0	strelka-varscan-mutect	SACS,missense_variant,p.Leu3155Val,ENST00000382292,NM_014363.5;SACS,missense_variant,p.Leu2405Val,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	C	ENST00000382292	Transcript	missense_variant	9737/15324	9463/13740	3155/4579	L/V	Ctt/Gtt		1		-1	SACS	HGNC	HGNC:10519	protein_coding	YES	CCDS9300.2	ENSP00000371729	Q9NZJ4		UPI000047039D	NM_014363.5	deleterious(0)		9/9		hmmpanther:PTHR15600,hmmpanther:PTHR15600:SF28																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	42	23334413	23334413	G	C	1	0	0	0	0	1	0	0	0	14063	1000	35	4		4	SACS	13	23334413	Missense_Mutation	SNP	G	C3N-00203_TP		23334413	91029915	336	12284											
ATP12A	0	.	GRCh38	chr13	24688457	24688457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcctcctgtgggtgggcGcctttctctgttggattgca	3	15	12	11	1	1	0	0	0	1	0	4	1	3	1	3	3	1	2	3	3	1	4	rs149324896		C3N-00203_TP	C3N-00203_NB	G	G																c.367G>T	p.Ala123Ser	p.A123S	ENST00000218548	4/23	83	64	19	82	82	0	strelka-varscan-mutect	ATP12A,missense_variant,p.Ala123Ser,ENST00000381946,NM_001676.5;ATP12A,missense_variant,p.Ala123Ser,ENST00000218548,NM_001185085.1;	T	ENST00000218548	Transcript	missense_variant	700/3732	367/3138	123/1045	A/S	Gcc/Tcc	rs149324896,COSM2266842	1		1	ATP12A	HGNC	HGNC:13816	protein_coding	YES	CCDS53858.1	ENSP00000218548	P54707		UPI000006D1DE	NM_001185085.1	tolerated(0.21)		4/23		hmmpanther:PTHR24093:SF282,hmmpanther:PTHR24093,Pfam_domain:PF00690,TIGRFAM_domain:TIGR01106,SMART_domains:SM00831,Superfamily_domains:0049473,Prints_domain:PR00121,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs149324896	.												T	3	4	42	24688457	24688457	G	T	1	0	0	0	0	1	0	0	0	1274	1087	38	1		1	ATP12A	13	24688457	Missense_Mutation	SNP	G	C3N-00203_TP	1354044	24688457	89675871	337	12285											
PDS5B	0	.	GRCh38	chr13	32775043	32775043	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcgaagtgctaaaagggaAcggcgatgaacaaatgtaat	16	6	13	6	4	0	1	0	1	0	0	0	4	0	2	0	3	3	2	0	3	7	2	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.4335A>T	p.Glu1445Asp	p.E1445D	ENST00000315596	35/35	240	178	62	242	241	1	strelka-varscan-mutect	PDS5B,missense_variant,p.Glu1445Asp,ENST00000315596,NM_015032.3;PDS5B,downstream_gene_variant,,ENST00000447833,;PDS5B,3_prime_UTR_variant,,ENST00000450460,;PDS5B,downstream_gene_variant,,ENST00000474274,;	T	ENST00000315596	Transcript	missense_variant	4521/7497	4335/4344	1445/1447	E/D	gaA/gaT		1		1	PDS5B	HGNC	HGNC:20418	protein_coding	YES	CCDS41878.1	ENSP00000313851	Q9NTI5		UPI000006D4A9	NM_015032.3	tolerated_low_confidence(0.06)		35/35		hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	32775043	32775043	A	T	1	0	0	0	0	1	0	0	0	11780	40	2	4		4	PDS5B	13	32775043	Missense_Mutation	SNP	A	C3N-00203_TP	8086586	32775043	81589285	338	12286											
SLITRK1	0	.	GRCh38	chr13	83880777	83880777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttaccctgcagtctggtgGgggcttcgcagaccactcgg	5	10	13	13	2	1	1	0	0	1	1	3	1	1	1	2	4	2	3	2	4	1	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.731C>A	p.Pro244His	p.P244H	ENST00000377084	1/1	316	251	65	295	294	1	strelka-varscan-mutect	SLITRK1,missense_variant,p.Pro244His,ENST00000377084,NM_052910.2,NM_001281503.1;	T	ENST00000377084	Transcript	missense_variant	1617/5189	731/2091	244/696	P/H	cCc/cAc		1		-1	SLITRK1	HGNC	HGNC:20297	protein_coding	YES	CCDS9464.1	ENSP00000366288	Q96PX8		UPI0000035971	NM_052910.2,NM_001281503.1	deleterious(0)		1/1		SMART_domains:SM00082,Superfamily_domains:SSF52058																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	42	83880777	83880777	G	T	1	0	0	0	0	1	0	0	0	15033	1232	43	2		2	SLITRK1	13	83880777	Missense_Mutation	SNP	G	C3N-00203_TP	51105734	83880777	30483551	339	12287											
MBNL2	0	.	GRCh38	chr13	97391423	97391423	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actatcctgtttcctcctcaAtagaattgccacaaactgca	12	12	4	13	0	1	1	1	0	0	1	4	1	4	1	4	0	3	2	4	0	5	4	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.1096A>G	p.Ile366Val	p.I366V	ENST00000376673	8/8	293	229	64	255	255	0	strelka-varscan-mutect	MBNL2,missense_variant,p.Ile366Val,ENST00000376673,NM_001306070.1;MBNL2,missense_variant,p.Ile354Val,ENST00000343600,NM_207304.2;MBNL2,missense_variant,p.Ile354Val,ENST00000397601,;MBNL2,3_prime_UTR_variant,,ENST00000345429,NM_144778.3;MBNL2,3_prime_UTR_variant,,ENST00000449284,;MBNL2,3_prime_UTR_variant,,ENST00000469707,;	G	ENST00000376673	Transcript	missense_variant	1936/4632	1096/1122	366/373	I/V	Ata/Gta		1		1	MBNL2	HGNC	HGNC:16746	protein_coding	YES	CCDS76644.1	ENSP00000365861	Q5VZF2		UPI00005B72AD	NM_001306070.1	tolerated_low_confidence(0.75)		8/8																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	42	97391423	97391423	A	G	1	0	0	0	0	1	0	0	0	9286	101	4	5		5	MBNL2	13	97391423	Missense_Mutation	SNP	A	C3N-00203_TP	13510646	97391423	16972905	340	12288											
SLC15A1	0	.	GRCh38	chr13	98702529	98702529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggttaagaccatcctttaCctgagagagaaaacagtaat	15	10	8	8	0	0	3	0	1	0	3	1	5	1	3	3	1	2	2	3	1	5	4	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1417G>T	p.Val473Leu	p.V473L	ENST00000376503	18/23	177	127	50	159	159	0	strelka-varscan-mutect	SLC15A1,missense_variant,p.Val473Leu,ENST00000376503,NM_005073.3;	A	ENST00000376503	Transcript	missense_variant,splice_region_variant	1473/3106	1417/2127	473/708	V/L	Gta/Tta		1		-1	SLC15A1	HGNC	HGNC:10920	protein_coding	YES	CCDS9489.1	ENSP00000365686	P46059	B2CQT6	UPI000013166F	NM_005073.3	tolerated(0.38)		18/23		TIGRFAM_domain:TIGR00926																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	98702529	98702529	C	A	1	0	0	0	0	1	0	0	0	14663	521	18	2		2	SLC15A1	13	98702529	Missense_Mutation	SNP	C	C3N-00203_TP	1311106	98702529	15661799	341	12289											
KDELC1	0	.	GRCh38	chr13	102798593	102798593	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgctcttctccgggctcagCtgcctttctccgccggtctc	1	13	9	18	4	5	0	1	0	4	0	9	0	5	0	4	2	2	3	4	2	0	2	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.78G>A	p.=	p.Q26Q	ENST00000376004	1/10	135	114	21	115	115	0	strelka-varscan-mutect	KDELC1,synonymous_variant,p.=,ENST00000376004,NM_024089.2;BIVM,upstream_gene_variant,,ENST00000257336,NM_017693.3;BIVM,upstream_gene_variant,,ENST00000448849,NM_001159596.1;KDELC1,non_coding_transcript_exon_variant,,ENST00000460338,;BIVM,upstream_gene_variant,,ENST00000491929,;BIVM,upstream_gene_variant,,ENST00000481069,;KDELC1,upstream_gene_variant,,ENST00000486540,;	T	ENST00000376004	Transcript	synonymous_variant	415/2060	78/1509	26/502	Q	caG/caA		1		-1	KDELC1	HGNC	HGNC:19350	protein_coding	YES	CCDS9504.1	ENSP00000365172	Q6UW63		UPI000004C663	NM_024089.2			1/10		PROSITE_profiles:PS50194,hmmpanther:PTHR12203,hmmpanther:PTHR12203:SF21																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	42	102798593	102798593	C	T	1	0	0	0	0	0	0	0	1	8034	796	28	3		3	KDELC1	13	102798593	Silent	SNP	C	C3N-00203_TP	4096064	102798593	11565735	342	12290											
POTEM	0	.	GRCh38	chr14	18967864	18967864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggagactacgacgacagcGctttcatggagccgaggtac	10	6	15	10	4	1	1	1	0	0	1	1	6	1	2	1	4	4	2	1	4	2	3	rs201157355		C3N-00203_TP	C3N-00203_NB	G	G																c.379G>T	p.Ala127Ser	p.A127S	ENST00000547889	1/11	93	86	7	92	92	0	varscan-mutect	POTEM,missense_variant,p.Ala127Ser,ENST00000547889,NM_001145442.1;POTEM,missense_variant,p.Ala127Ser,ENST00000552966,;POTEM,missense_variant,p.Ala127Ser,ENST00000616847,;	T	ENST00000547889	Transcript	missense_variant	431/1817	379/1527	127/508	A/S	Gct/Tct	rs201157355	1		1	POTEM	HGNC	HGNC:37096	protein_coding	YES	CCDS73609.1	ENSP00000448062	A6NI47		UPI00006C1407	NM_001145442.1	deleterious(0.03)		1/11		Gene3D:1.25.40.20,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43																	MODERATE	1	SNV	1			1										PASS		rs201157355	.												T	3	4	42	18967864	18967864	G	T	1	0	0	0	0	1	0	0	0	12384	1087	38	1		1	POTEM	14	18967864	Missense_Mutation	SNP	G	C3N-00203_TP		18967864	88075854	343	12291											
OR4M1	0	.	GRCh38	chr14	19781082	19781082	+	Missense_Mutation	SNP	G	G	C																															ccattgtggtgctaatgtttGggccatccatctacatttat																										C3N-00203_TP	C3N-00203_NB	G	G																c.760G>C	p.Gly254Arg	p.G254R	ENST00000315957	1/1	486	455	31	470	469	1	varscan-mutect	OR4M1,missense_variant,p.Gly254Arg,ENST00000315957,NM_001005500.1;OR4N2,intron_variant,,ENST00000557414,;	C	ENST00000315957	Transcript	missense_variant	841/1116	760/942	254/313	G/R	Ggg/Cgg	COSM3494404	1		1	OR4M1	HGNC	HGNC:14735	protein_coding	YES	CCDS32021.1	ENSP00000319654	Q8NGD0	A0A126GWC3	UPI0000061F0F	NM_001005500.1	deleterious(0.02)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		rs1405180671	.												C	3	2	42	19781082	19781082	G	C	1	0	0	0	0	1	0	0	0	11152	1348	47	4		4	OR4M1	14	19781082	Missense_Mutation	SNP	G	C3N-00203_TP	813218	19781082	87262636	344	12292	277	2									
OR4M1	0	.	GRCh38	chr14	19781083	19781083	+	Missense_Mutation	SNP	G	G	T																															cattgtggtgctaatgtttgGgccatccatctacatttatg																								novel		C3N-00203_TP	C3N-00203_NB	G	G																c.761G>T	p.Gly254Val	p.G254V	ENST00000315957	1/1	486	454	32	471	471	0	varscan-mutect	OR4M1,missense_variant,p.Gly254Val,ENST00000315957,NM_001005500.1;OR4N2,intron_variant,,ENST00000557414,;	T	ENST00000315957	Transcript	missense_variant	842/1116	761/942	254/313	G/V	gGg/gTg		1		1	OR4M1	HGNC	HGNC:14735	protein_coding	YES	CCDS32021.1	ENSP00000319654	Q8NGD0	A0A126GWC3	UPI0000061F0F	NM_001005500.1	tolerated(1)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	42	19781083	19781083	G	T	1	0	0	0	0	1	0	0	0	11152	1232	43	2		2	OR4M1	14	19781083	Missense_Mutation	SNP	G	C3N-00203_TP	1	19781083	87262635	345	12293	277	2									
OR4K2	0	.	GRCh38	chr14	19877045	19877045	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcatcttcatctacatgTggccactaagcagctttctc	9	13	6	13	0	4	0	1	0	3	0	5	0	4	0	1	1	4	3	1	1	2	4	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.778T>A	p.Trp260Arg	p.W260R	ENST00000298642	1/1	745	672	73	670	670	0	strelka-varscan-mutect	OR4K2,missense_variant,p.Trp260Arg,ENST00000298642,NM_001005501.1;	A	ENST00000298642	Transcript	missense_variant	814/1078	778/945	260/314	W/R	Tgg/Agg		1		1	OR4K2	HGNC	HGNC:14728	protein_coding	YES	CCDS32023.1	ENSP00000298642	Q8NGD2	A0A126GVP5	UPI0000041B4D	NM_001005501.1	deleterious(0.03)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF260,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	42	19877045	19877045	T	A	1	0	0	0	0	1	0	0	0	11149	1696	59	4		4	OR4K2	14	19877045	Missense_Mutation	SNP	T	C3N-00203_TP	95962	19877045	87166673	346	12294											
MYH7	0	.	GRCh38	chr14	23429283	23429283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgcccactttcacccgaggGtggcacagccccttgagcag	7	8	11	15	1	1	1	1	1	0	0	1	2	1	1	4	2	3	2	4	2	0	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1203C>G	p.His401Gln	p.H401Q	ENST00000355349	13/40	531	491	40	346	346	0	strelka-varscan-mutect	MYH7,missense_variant,p.His401Gln,ENST00000355349,NM_000257.3;	C	ENST00000355349	Transcript	missense_variant	1366/6087	1203/5808	401/1935	H/Q	caC/caG		1		-1	MYH7	HGNC	HGNC:7577	protein_coding	YES	CCDS9601.1	ENSP00000347507	P12883		UPI000014019B	NM_000257.3	tolerated(0.06)		13/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF413,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	23429283	23429283	G	C	1	0	0	0	0	1	0	0	0	10039	1252	44	4		4	MYH7	14	23429283	Missense_Mutation	SNP	G	C3N-00203_TP	3552238	23429283	83614435	347	12295											
MYH7	0	.	GRCh38	chr14	23433705	23433706	+	Frame_Shift_Ins	INS	-	-	A																															aggtagggggcggcagccccINSaaagactgccatctccgaat																								novel		C3N-00203_TP	C3N-00203_NB	-	-																c.27dupT	p.Gly10TrpfsTer23	p.G10Wfs*23	ENST00000355349	3/40	335	296	39	225	225	0	sindel-varindel-pindel	MYH7,frameshift_variant,p.Gly10TrpfsTer23,ENST00000355349,NM_000257.3;	A	ENST00000355349	Transcript	frameshift_variant	190-191/6087	27-28/5808	9-10/1935	-/X	-/T		1		-1	MYH7	HGNC	HGNC:7577	protein_coding	YES	CCDS9601.1	ENSP00000347507	P12883		UPI000014019B	NM_000257.3			3/40																			HIGH	1	insertion	1			1										PASS		.	.												A	7	5	42	23433705	23433705	-	A	1	0	1	1	0	0	0	0	0	10039	594	21	0		0	MYH7	14	23433705	Frame_Shift_Ins	INS	-	C3N-00203_TP	4422	23433705	83610013	348	12296											
AP1G2	0	.	GRCh38	chr14	23564644	23564644	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccggcatttcggctggtgTccgtgttagtggccacctga	4	13	13	11	3	0	1	0	1	0	0	3	1	2	1	4	4	0	3	4	4	1	3	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.839A>C	p.Asp280Ala	p.D280A	ENST00000308724	8/21	163	125	38	127	127	0	strelka-varscan-mutect	AP1G2,missense_variant,p.Asp280Ala,ENST00000308724,NM_001282475.1;AP1G2,missense_variant,p.Asp280Ala,ENST00000397120,NM_001282474.1,NM_003917.4;JPH4,downstream_gene_variant,,ENST00000397118,NM_032452.2;JPH4,downstream_gene_variant,,ENST00000356300,NM_001146028.1;JPH4,downstream_gene_variant,,ENST00000622501,;THTPA,downstream_gene_variant,,ENST00000288014,;JPH4,downstream_gene_variant,,ENST00000544177,;AP1G2,downstream_gene_variant,,ENST00000557189,;AP1G2,upstream_gene_variant,,ENST00000554477,;AP1G2,downstream_gene_variant,,ENST00000556843,;RP11-66N24.3,intron_variant,,ENST00000555968,;RP11-66N24.4,downstream_gene_variant,,ENST00000553985,;AP1G2,non_coding_transcript_exon_variant,,ENST00000556277,;AP1G2,upstream_gene_variant,,ENST00000555510,;AP1G2,upstream_gene_variant,,ENST00000555118,;AP1G2,non_coding_transcript_exon_variant,,ENST00000460049,;AP1G2,non_coding_transcript_exon_variant,,ENST00000465445,;AP1G2,non_coding_transcript_exon_variant,,ENST00000535852,;AP1G2,non_coding_transcript_exon_variant,,ENST00000556152,;AP1G2,non_coding_transcript_exon_variant,,ENST00000554977,;AP1G2,upstream_gene_variant,,ENST00000554554,;AP1G2,downstream_gene_variant,,ENST00000556743,;AP1G2,downstream_gene_variant,,ENST00000553629,;AP1G2,upstream_gene_variant,,ENST00000556966,;AP1G2,downstream_gene_variant,,ENST00000557619,;AP1G2,downstream_gene_variant,,ENST00000555896,;AP1G2,downstream_gene_variant,,ENST00000554069,;AP1G2,downstream_gene_variant,,ENST00000556943,;AP1G2,downstream_gene_variant,,ENST00000557482,;AP1G2,upstream_gene_variant,,ENST00000554982,;AP1G2,upstream_gene_variant,,ENST00000554892,;AP1G2,downstream_gene_variant,,ENST00000553756,;AP1G2,downstream_gene_variant,,ENST00000554312,;AP1G2,downstream_gene_variant,,ENST00000553685,;AP1G2,upstream_gene_variant,,ENST00000557162,;AP1G2,upstream_gene_variant,,ENST00000557132,;AP1G2,upstream_gene_variant,,ENST00000557391,;AP1G2,upstream_gene_variant,,ENST00000556741,;AP1G2,upstream_gene_variant,,ENST00000555974,;AP1G2,upstream_gene_variant,,ENST00000555789,;AP1G2,downstream_gene_variant,,ENST00000554816,;	G	ENST00000308724	Transcript	missense_variant	1595/3298	839/2358	280/785	D/A	gAc/gCc		1		-1	AP1G2	HGNC	HGNC:556	protein_coding	YES	CCDS9602.1	ENSP00000312442	O75843		UPI0000124FE8	NM_001282475.1	deleterious(0)		8/21		Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037094,hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF28,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	42	23564644	23564644	T	G	1	0	0	0	0	1	0	0	0	849	1667	58	5		5	AP1G2	14	23564644	Missense_Mutation	SNP	T	C3N-00203_TP	130939	23564644	83479074	349	12297											
FOXG1	0	.	GRCh38	chr14	28768489	28768489	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggacctactccctcaacCcctgctccgtcaacctgctc	6	9	6	20	1	2	0	2	0	0	0	5	1	4	1	6	1	5	2	6	1	3	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1210C>G	p.Pro404Ala	p.P404A	ENST00000313071	1/1	336	273	63	247	247	0	strelka-varscan-mutect	FOXG1,missense_variant,p.Pro404Ala,ENST00000313071,NM_005249.4;LINC01551,upstream_gene_variant,,ENST00000399387,;LINC01551,upstream_gene_variant,,ENST00000552957,;LINC01551,upstream_gene_variant,,ENST00000548213,;FOXG1-AS1,upstream_gene_variant,,ENST00000551395,;FOXG1-AS1,upstream_gene_variant,,ENST00000546560,;FOXG1-AS1,upstream_gene_variant,,ENST00000549487,;FOXG1,downstream_gene_variant,,ENST00000637817,;FOXG1,downstream_gene_variant,,ENST00000636893,;FOXG1,downstream_gene_variant,,ENST00000636353,;FOXG1,downstream_gene_variant,,ENST00000637220,;FOXG1,downstream_gene_variant,,ENST00000636346,;FOXG1,downstream_gene_variant,,ENST00000636604,;FOXG1,downstream_gene_variant,,ENST00000637351,;	G	ENST00000313071	Transcript	missense_variant	3102/4890	1210/1470	404/489	P/A	Ccc/Gcc		1		1	FOXG1	HGNC	HGNC:3811	protein_coding	YES	CCDS9636.1	ENSP00000339004	P55316		UPI00001AE46C	NM_005249.4	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF165																	MODERATE		SNV				1										PASS		.	.												G	3	3	42	28768489	28768489	C	G	1	0	0	0	0	1	0	0	0	5869	623	22	4		4	FOXG1	14	28768489	Missense_Mutation	SNP	C	C3N-00203_TP	5203845	28768489	78275229	350	12298											
AKAP6	0	.	GRCh38	chr14	32824260	32824260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactcgggcttagatgacaaGgaagatattgaatgcttttt	12	13	11	5	1	0	4	0	2	0	2	1	6	0	5	0	2	1	2	0	2	5	5	rs747689365		C3N-00203_TP	C3N-00203_NB	G	G																c.6447G>T	p.Lys2149Asn	p.K2149N	ENST00000280979	13/14	317	233	84	307	306	1	strelka-varscan-mutect	AKAP6,missense_variant,p.Lys2149Asn,ENST00000280979,NM_004274.4;AKAP6,intron_variant,,ENST00000557272,;	T	ENST00000280979	Transcript	missense_variant	6617/15006	6447/6960	2149/2319	K/N	aaG/aaT	rs747689365	1		1	AKAP6	HGNC	HGNC:376	protein_coding	YES	CCDS9644.1	ENSP00000280979	Q13023		UPI000013DC48	NM_004274.4	tolerated_low_confidence(0.11)		13/14		hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2																	MODERATE	1	SNV	1			1										PASS		rs747689365	.												T	3	4	42	32824260	32824260	G	T	1	0	0	0	0	1	0	0	0	539	991	35	2		2	AKAP6	14	32824260	Missense_Mutation	SNP	G	C3N-00203_TP	4055771	32824260	74219458	351	12299											
TMX1	0	.	GRCh38	chr14	51249507	51249507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaccttggattgccaGtgtggggatcatatactgtt	9	14	12	6	0	1	2	1	1	0	1	1	4	1	4	2	3	2	1	2	3	3	6	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.529G>T	p.Val177Leu	p.V177L	ENST00000457354	6/8	237	179	58	213	213	0	strelka-varscan-mutect	TMX1,missense_variant,p.Val177Leu,ENST00000457354,NM_030755.4;Y_RNA,downstream_gene_variant,,ENST00000364950,;TMX1,3_prime_UTR_variant,,ENST00000556683,;TMX1,downstream_gene_variant,,ENST00000555574,;	T	ENST00000457354	Transcript	missense_variant	654/3995	529/843	177/280	V/L	Gtg/Ttg		1		1	TMX1	HGNC	HGNC:15487	protein_coding	YES	CCDS41953.1	ENSP00000393316	Q9H3N1		UPI0000048EB4	NM_030755.4	deleterious(0.05)		6/8		hmmpanther:PTHR18929:SF72,hmmpanther:PTHR18929																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	51249507	51249507	G	T	1	0	0	0	0	1	0	0	0	16740	1029	36	2		2	TMX1	14	51249507	Missense_Mutation	SNP	G	C3N-00203_TP	18425247	51249507	55794211	352	12300											
ISM2	0	.	GRCh38	chr14	77482523	77482527	+	Frame_Shift_Del	DEL	TTTCC	TTTCC	-																															ctcccctggggccctgtcttTttcctctcctttgtagtctc																								novel		C3N-00203_TP	C3N-00203_NB	TTTCC	TTTCC																c.768_772delGGAAA	p.Glu257ArgfsTer25	p.E257Rfs*25	ENST00000342219	4/7	194	179	15	137	137	0	sindel-varindel-pindel	ISM2,frameshift_variant,p.Glu257ArgfsTer25,ENST00000342219,NM_199296.2;ISM2,frameshift_variant,p.Glu176ArgfsTer?,ENST00000554801,;ISM2,intron_variant,,ENST00000493585,NM_182509.3;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,non_coding_transcript_exon_variant,,ENST00000487738,;ISM2,downstream_gene_variant,,ENST00000472744,;ISM2,downstream_gene_variant,,ENST00000480979,;ISM2,downstream_gene_variant,,ENST00000471734,;	-	ENST00000342219	Transcript	frameshift_variant	825-829/2971	768-772/1716	256-258/571	EEK/EX	gaGGAAAaa/gaaa		1		-1	ISM2	HGNC	HGNC:23176	protein_coding	YES	CCDS9864.1	ENSP00000341490	Q6H9L7		UPI000019950C	NM_199296.2			4/7		hmmpanther:PTHR10239:SF28,hmmpanther:PTHR10239																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	42	77482523	77482523	TTTCC	-	1	0	1	0	1	0	0	0	0	7768	1850	64	0		0	ISM2	14	77482523	Frame_Shift_Del	DEL	TTTCC	C3N-00203_TP	26233016	77482523	29561195	353	12301											
NRXN3	0	.	GRCh38	chr14	78243709	78243709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggaccctgtggtgagcgtCcctgtgaaaatggtgggatc	8	9	16	8	1	0	2	0	2	0	0	2	4	1	4	2	4	1	0	2	4	2	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.616C>A	p.Pro206Thr	p.P206T	ENST00000634499	2/20	160	141	19	150	150	0	strelka-varscan-mutect	NRXN3,missense_variant,p.Pro206Thr,ENST00000634499,;NRXN3,missense_variant,p.Pro206Thr,ENST00000635466,;NRXN3,missense_variant,p.Pro206Thr,ENST00000554738,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556088,;	A	ENST00000634499	Transcript	missense_variant	1621/6069	616/4995	206/1664	P/T	Ccc/Acc		1		1	NRXN3	HGNC	HGNC:8010	protein_coding			ENSP00000488920		A0A0U1RQC5	UPI000719A152				2/20		Gene3D:2.60.120.200,PROSITE_profiles:PS50026,SMART_domains:SM00181,Superfamily_domains:SSF49899																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	42	78243709	78243709	C	A	1	0	0	0	0	1	0	0	0	10726	855	30	2		2	NRXN3	14	78243709	Missense_Mutation	SNP	C	C3N-00203_TP	761186	78243709	28800009	354	12302											
FLRT2	0	.	GRCh38	chr14	85622091	85622091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtggatgaaaatcgaattGctgtcatatccgacatggcc	12	10	11	8	2	1	1	1	1	0	0	3	5	2	2	2	2	1	1	2	2	4	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.577G>T	p.Ala193Ser	p.A193S	ENST00000330753	2/2	216	199	17	208	208	0	strelka-varscan-mutect	FLRT2,missense_variant,p.Ala193Ser,ENST00000330753,NM_013231.4;FLRT2,missense_variant,p.Ala193Ser,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	T	ENST00000330753	Transcript	missense_variant	1344/33679	577/1983	193/660	A/S	Gct/Tct		1		1	FLRT2	HGNC	HGNC:3761	protein_coding	YES	CCDS9877.1	ENSP00000332879	O43155		UPI0000049E10	NM_013231.4	tolerated(1)		2/2		hmmpanther:PTHR24369:SF23,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	85622091	85622091	G	T	1	0	0	0	0	1	0	0	0	5795	1319	46	2		2	FLRT2	14	85622091	Missense_Mutation	SNP	G	C3N-00203_TP	7378382	85622091	21421627	355	12303											
GOLGA5	0	.	GRCh38	chr14	92811735	92811735	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attaattgactacaagcaaaAagctactagaatactgcaag	19	9	6	7	0	0	2	0	1	0	1	0	2	0	2	0	0	6	3	0	0	10	6	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.1301A>G	p.Lys434Arg	p.K434R	ENST00000163416	6/13	214	156	58	175	174	1	strelka-varscan-mutect	GOLGA5,missense_variant,p.Lys434Arg,ENST00000163416,NM_005113.3;GOLGA5,downstream_gene_variant,,ENST00000555793,;	G	ENST00000163416	Transcript	missense_variant	1557/2969	1301/2196	434/731	K/R	aAa/aGa		1		1	GOLGA5	HGNC	HGNC:4428	protein_coding	YES	CCDS9905.1	ENSP00000163416	Q8TBA6		UPI000013C5AA	NM_005113.3	deleterious(0)		6/13		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09787,hmmpanther:PTHR13815,hmmpanther:PTHR13815:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	42	92811735	92811735	A	G	1	0	0	0	0	1	0	0	0	6434	14	1	5		5	GOLGA5	14	92811735	Missense_Mutation	SNP	A	C3N-00203_TP	7189644	92811735	14231983	356	12304											
SERPINA1	0	.	GRCh38	chr14	94382974	94382974	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagccttggtccccagggaGagcattgcaaaggctgtagc	9	8	13	11	0	1	1	1	0	0	1	2	2	2	1	3	3	4	4	3	3	2	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.264C>T	p.=	p.L88L	ENST00000448921	4/7	56	50	6	59	59	0	strelka-varscan-mutect	SERPINA1,synonymous_variant,p.=,ENST00000448921,NM_001002236.2,NM_001127703.1,NM_001127701.1,NM_001127704.1,NM_001127705.1;SERPINA1,synonymous_variant,p.=,ENST00000437397,NM_001127706.1,NM_001127707.1,NM_001127702.1;SERPINA1,synonymous_variant,p.=,ENST00000355814,NM_001002235.2,NM_001127700.1;SERPINA1,synonymous_variant,p.=,ENST00000440909,;SERPINA1,synonymous_variant,p.=,ENST00000393088,;SERPINA1,synonymous_variant,p.=,ENST00000404814,;SERPINA1,synonymous_variant,p.=,ENST00000393087,NM_000295.4;SERPINA1,synonymous_variant,p.=,ENST00000449399,;SERPINA1,synonymous_variant,p.=,ENST00000636712,;SERPINA1,synonymous_variant,p.=,ENST00000402629,;SERPINA1,synonymous_variant,p.=,ENST00000557492,;SERPINA1,synonymous_variant,p.=,ENST00000556091,;SERPINA1,synonymous_variant,p.=,ENST00000553327,;SERPINA1,synonymous_variant,p.=,ENST00000556955,;SERPINA1,synonymous_variant,p.=,ENST00000554720,;SERPINA1,downstream_gene_variant,,ENST00000557118,;SERPINA1,downstream_gene_variant,,ENST00000555289,;SERPINA1,synonymous_variant,p.=,ENST00000489769,;	A	ENST00000448921	Transcript	synonymous_variant	837/3532	264/1257	88/418	L	ctC/ctT		1		-1	SERPINA1	HGNC	HGNC:8941	protein_coding	YES	CCDS9925.1	ENSP00000416066	P01009	E9KL23	UPI000000CBEC	NM_001002236.2,NM_001127703.1,NM_001127701.1,NM_001127704.1,NM_001127705.1			4/7		hmmpanther:PTHR11461:SF165,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	94382974	94382974	G	A	1	0	0	0	0	0	0	0	1	14362	929	33	3		3	SERPINA1	14	94382974	Silent	SNP	G	C3N-00203_TP	1571239	94382974	12660744	357	12305											
NPAP1	0	.	GRCh38	chr15	24677264	24677264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taactctcctctggctcttcCtgctgaccttgttcccattt	4	17	5	15	0	3	1	0	1	3	0	6	1	5	1	4	1	2	3	4	1	1	5			C3N-00203_TP	C3N-00203_NB	C	C																c.1397C>A	p.Pro466His	p.P466H	ENST00000329468	1/1	279	231	48	280	279	1	strelka-varscan-mutect	NPAP1,missense_variant,p.Pro466His,ENST00000329468,NM_018958.2;	A	ENST00000329468	Transcript	missense_variant	1397/7526	1397/3471	466/1156	P/H	cCt/cAt	COSM333559	1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2	tolerated(0.14)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	42	24677264	24677264	C	A	1	0	0	0	0	1	0	0	0	10609	681	24	2		2	NPAP1	15	24677264	Missense_Mutation	SNP	C	C3N-00203_TP		24677264	77313925	358	12306											
GABRB3	0	.	GRCh38	chr15	26772444	26772444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgatgctggcgatgtcgatGttcatccccacgcagaccgg	7	9	12	13	5	1	1	1	0	0	1	4	4	2	1	3	2	1	3	3	2	0	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.198C>A	p.Asn66Lys	p.N66K	ENST00000311550	3/9	361	315	46	370	370	0	strelka-varscan-mutect	GABRB3,missense_variant,p.Asn122Lys,ENST00000541819,;GABRB3,missense_variant,p.Asn66Lys,ENST00000311550,NM_000814.5;GABRB3,missense_variant,p.Asn66Lys,ENST00000299267,NM_021912.4;GABRB3,missense_variant,p.Asn33Lys,ENST00000638099,;GABRB3,5_prime_UTR_variant,,ENST00000622697,NM_001278631.1;GABRB3,upstream_gene_variant,,ENST00000636466,;GABRB3,non_coding_transcript_exon_variant,,ENST00000557641,;GABRB3,non_coding_transcript_exon_variant,,ENST00000554722,;GABRB3,missense_variant,p.Asn66Lys,ENST00000555632,;GABRB3,missense_variant,p.Asn66Lys,ENST00000554556,;	T	ENST00000311550	Transcript	missense_variant	310/5781	198/1422	66/473	N/K	aaC/aaA		1		-1	GABRB3	HGNC	HGNC:4083	protein_coding	YES	CCDS10019.1	ENSP00000308725	P28472		UPI000012AFB0	NM_000814.5	tolerated(0.19)		3/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF571,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	26772444	26772444	G	T	1	0	0	0	0	1	0	0	0	6039	1368	48	2		2	GABRB3	15	26772444	Missense_Mutation	SNP	G	C3N-00203_TP	2095180	26772444	75218745	359	12307											
RYR3	0	.	GRCh38	chr15	33646501	33646501	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagccacagcccctgtCtggacagtgaagctttccag	8	9	9	15	0	2	1	1	1	1	0	3	2	3	2	5	1	3	1	5	1	1	2	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.3916C>A	p.Leu1306Met	p.L1306M	ENST00000634891	29/104	103	73	30	77	77	0	strelka-varscan-mutect	RYR3,missense_variant,p.Leu1306Met,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Leu1306Met,ENST00000622037,;RYR3,missense_variant,p.Leu1306Met,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Leu1306Met,ENST00000389232,;RYR3,missense_variant,p.Leu1306Met,ENST00000634418,;RYR3,intron_variant,,ENST00000636583,;	A	ENST00000634891	Transcript	missense_variant	4017/15591	3916/14613	1306/4870	L/M	Ctg/Atg		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	tolerated(0.06)		29/104		PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16																	MODERATE	1	SNV	1			1										PASS		rs1396287727	.												A	3	1	42	33646501	33646501	C	A	1	0	0	0	0	1	0	0	0	14030	912	32	2		2	RYR3	15	33646501	Missense_Mutation	SNP	C	C3N-00203_TP	6874057	33646501	68344688	360	12308											
RYR3	0	.	GRCh38	chr15	33669388	33669388	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taactttcaactgggagagaActgcccctgcccagaggaga	12	7	11	11	0	1	3	1	0	0	3	1	6	1	4	3	2	5	0	3	2	3	2	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.5654A>C	p.Asn1885Thr	p.N1885T	ENST00000634891	37/104	327	263	64	286	286	0	strelka-varscan-mutect	RYR3,missense_variant,p.Asn1885Thr,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Asn1885Thr,ENST00000622037,;RYR3,missense_variant,p.Asn1885Thr,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Asn1885Thr,ENST00000389232,;RYR3,missense_variant,p.Asn1885Thr,ENST00000634418,;	C	ENST00000634891	Transcript	missense_variant	5755/15591	5654/14613	1885/4870	N/T	aAc/aCc		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	tolerated(0.08)		37/104		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	33669388	33669388	A	C	1	0	0	0	0	1	0	0	0	14030	43	2	5		5	RYR3	15	33669388	Missense_Mutation	SNP	A	C3N-00203_TP	22887	33669388	68321801	361	12309											
C15orf41	0	.	GRCh38	chr15	36808367	36808367	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	attggtatggatttatccagGagctggactgcaaccgggaa	11	10	13	7	1	0	0	0	0	0	0	1	4	1	4	2	5	3	3	2	5	4	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.760G>C	p.Glu254Gln	p.E254Q	ENST00000566621	11/11	218	174	44	162	162	0	strelka-varscan-mutect	C15orf41,missense_variant,p.Glu254Gln,ENST00000566621,NM_001321759.1,NM_001321761.1,NM_001290233.1,NM_001130010.2;C15orf41,missense_variant,p.Glu156Gln,ENST00000567389,NM_032499.5;C15orf41,missense_variant,p.Glu156Gln,ENST00000338183,;C15orf41,missense_variant,p.Glu254Gln,ENST00000437989,;C15orf41,missense_variant,p.Glu260Gln,ENST00000569302,;C15orf41,missense_variant,p.Gly16Ala,ENST00000563167,;C15orf41,missense_variant,p.Glu156Gln,ENST00000562877,NM_001290232.1;C15orf41,missense_variant,p.Glu78Gln,ENST00000562489,;C15orf41,non_coding_transcript_exon_variant,,ENST00000565792,;C15orf41,non_coding_transcript_exon_variant,,ENST00000566932,;CSNK1A1P1,intron_variant,,ENST00000430593,;C15orf41,non_coding_transcript_exon_variant,,ENST00000566677,;	C	ENST00000566621	Transcript	missense_variant	1010/2866	760/846	254/281	E/Q	Gag/Cag		1		1	C15orf41	HGNC	HGNC:26929	protein_coding	YES	CCDS45215.1	ENSP00000455397	Q9Y2V0		UPI00001FE1DF	NM_001321759.1,NM_001321761.1,NM_001290233.1,NM_001130010.2	deleterious(0.03)		11/11		Pfam_domain:PF14811,hmmpanther:PTHR31661,hmmpanther:PTHR31661:SF1																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	42	36808367	36808367	G	C	1	0	0	0	0	1	0	0	0	1845	1175	41	4		4	C15orf41	15	36808367	Missense_Mutation	SNP	G	C3N-00203_TP	3138979	36808367	65182822	362	12310											
SPRED1	0	.	GRCh38	chr15	38299420	38299420	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgacccgagatgactCaagtggtggatggttaccac	10	9	14	8	1	1	4	1	3	0	1	1	6	1	5	2	4	1	1	2	4	2	1			C3N-00203_TP	C3N-00203_NB	C	C																c.80C>A	p.Ser27Ter	p.S27*	ENST00000299084	2/7	419	314	105	358	357	1	strelka-varscan-mutect	SPRED1,stop_gained,p.Ser27Ter,ENST00000299084,NM_152594.2;SPRED1,stop_gained,p.Ser6Ter,ENST00000561317,;SPRED1,non_coding_transcript_exon_variant,,ENST00000561205,;	A	ENST00000299084	Transcript	stop_gained	940/7780	80/1335	27/444	S/*	tCa/tAa	COSM126941	1		1	SPRED1	HGNC	HGNC:20249	protein_coding	YES	CCDS32193.1	ENSP00000299084	Q7Z699		UPI0000072FBD	NM_152594.2			2/7		Low_complexity_(Seg):seg,PROSITE_profiles:PS50229,hmmpanther:PTHR11202,hmmpanther:PTHR11202:SF18,Gene3D:2.30.29.30,Pfam_domain:PF00568,SMART_domains:SM00461,Superfamily_domains:SSF50729											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	42	38299420	38299420	C	A	1	0	0	0	0	0	1	0	0	15446	838	29	2		2	SPRED1	15	38299420	Nonsense_Mutation	SNP	C	C3N-00203_TP	1491053	38299420	63691769	363	12311											
WDR76	0	.	GRCh38	chr15	43835069	43835069	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaattttataggatttttcGggattgtcaccctacgaaag	11	15	9	6	2	1	0	1	0	0	0	2	3	1	2	1	2	1	1	1	2	5	8	rs149899666		C3N-00203_TP	C3N-00203_NB	G	G																c.471G>T	p.=	p.S157S	ENST00000263795	3/13	218	150	68	162	161	1	strelka-varscan-mutect	WDR76,synonymous_variant,p.=,ENST00000263795,NM_024908.3;WDR76,synonymous_variant,p.=,ENST00000381246,NM_001167941.1;WDR76,synonymous_variant,p.=,ENST00000452115,;	T	ENST00000263795	Transcript	synonymous_variant	541/3978	471/1881	157/626	S	tcG/tcT	rs149899666,COSM4054892	1		1	WDR76	HGNC	HGNC:25773	protein_coding	YES	CCDS10106.1	ENSP00000263795	Q9H967		UPI000013D462	NM_024908.3			3/13		hmmpanther:PTHR14773:SF0,hmmpanther:PTHR14773											0,1						LOW	1	SNV	1		0,1	1										PASS		rs149899666	.												T	2	4	42	43835069	43835069	G	T	1	0	0	0	0	0	0	0	1	17882	1103	39	1		1	WDR76	15	43835069	Silent	SNP	G	C3N-00203_TP	5535649	43835069	58156120	364	12312											
UNC13C	0	.	GRCh38	chr15	54013420	54013420	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgacggggagcgtactCtacatggcttaaaactggga	10	9	13	9	2	2	1	0	1	2	0	2	3	2	3	0	4	4	3	0	4	4	3	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.517C>A	p.Leu173Ile	p.L173I	ENST00000260323	1/32	170	139	31	161	161	0	strelka-varscan-mutect	UNC13C,missense_variant,p.Leu173Ile,ENST00000260323,NM_001080534.1;	A	ENST00000260323	Transcript	missense_variant	517/12946	517/6645	173/2214	L/I	Cta/Ata		1		1	UNC13C	HGNC	HGNC:23149	protein_coding	YES	CCDS45264.1	ENSP00000260323	Q8NB66		UPI0000DD82AB	NM_001080534.1	deleterious_low_confidence(0.02)		1/32		hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	42	54013420	54013420	C	A	1	0	0	0	0	1	0	0	0	17510	912	32	2		2	UNC13C	15	54013420	Missense_Mutation	SNP	C	C3N-00203_TP	10178351	54013420	47977769	365	12313											
PML	0	.	GRCh38	chr15	74023372	74023372	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacgagttcaaggtgcgcCtgcaggacctcagctcttgc	7	9	12	13	3	3	0	2	0	1	0	4	3	3	1	2	2	4	3	2	2	1	2	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1147C>T	p.=	p.L383L	ENST00000268058	3/9	212	169	43	204	204	0	strelka-varscan-mutect	PML,synonymous_variant,p.=,ENST00000565898,;PML,synonymous_variant,p.=,ENST00000268058,NM_033238.2;PML,synonymous_variant,p.=,ENST00000563500,;PML,synonymous_variant,p.=,ENST00000435786,NM_033240.2;PML,synonymous_variant,p.=,ENST00000268059,NM_033239.2;PML,synonymous_variant,p.=,ENST00000436891,NM_033244.3;PML,synonymous_variant,p.=,ENST00000354026,NM_033250.2;PML,synonymous_variant,p.=,ENST00000569477,;PML,synonymous_variant,p.=,ENST00000395135,NM_002675.3;PML,synonymous_variant,p.=,ENST00000569965,;PML,synonymous_variant,p.=,ENST00000567606,;PML,synonymous_variant,p.=,ENST00000564428,NM_033249.2;PML,synonymous_variant,p.=,ENST00000395132,NM_033247.2;PML,synonymous_variant,p.=,ENST00000359928,NM_033246.2;PML,synonymous_variant,p.=,ENST00000567543,;PML,synonymous_variant,p.=,ENST00000566068,;PML,synonymous_variant,p.=,ENST00000565239,;PML,upstream_gene_variant,,ENST00000562086,;PML,splice_region_variant,,ENST00000569161,;PML,non_coding_transcript_exon_variant,,ENST00000564725,;	T	ENST00000268058	Transcript	synonymous_variant	1243/4508	1147/2649	383/882	L	Ctg/Ttg		1		1	PML	HGNC	HGNC:9113	protein_coding	YES	CCDS10255.1	ENSP00000268058	P29590		UPI000013D78F	NM_033238.2			3/9		Pfam_domain:PF12126,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF374																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	42	74023372	74023372	C	T	1	0	0	0	0	0	0	0	1	12242	680	24	3		3	PML	15	74023372	Silent	SNP	C	C3N-00203_TP	20009952	74023372	27967817	366	12314											
ISLR2	0	.	GRCh38	chr15	74133886	74133886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggtggcagcaaccgggcccCcaaaacacgcgcctggcgcc	8	2	13	18	5	0	0	0	0	0	0	0	0	0	0	5	4	3	2	5	4	3	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1132C>A	p.Pro378Thr	p.P378T	ENST00000361742	4/4	222	167	55	178	178	0	strelka-varscan-mutect	ISLR2,missense_variant,p.Pro378Thr,ENST00000361742,NM_001130136.1;ISLR2,missense_variant,p.Pro378Thr,ENST00000435464,NM_001130138.1;ISLR2,missense_variant,p.Pro378Thr,ENST00000565159,NM_001130137.1;ISLR2,missense_variant,p.Pro378Thr,ENST00000453268,NM_020851.2;ISLR2,missense_variant,p.Pro378Thr,ENST00000565540,;ISLR2,intron_variant,,ENST00000419208,;ISLR2,downstream_gene_variant,,ENST00000569886,;ISLR2,downstream_gene_variant,,ENST00000561740,;ISLR2,downstream_gene_variant,,ENST00000567206,;ISLR2,downstream_gene_variant,,ENST00000565332,;RP11-247C2.2,upstream_gene_variant,,ENST00000514871,;ISLR2,intron_variant,,ENST00000561975,;ISLR2,downstream_gene_variant,,ENST00000565068,;	A	ENST00000361742	Transcript	missense_variant	1901/4817	1132/2238	378/745	P/T	Cca/Aca		1		1	ISLR2	HGNC	HGNC:29286	protein_coding	YES	CCDS10259.1	ENSP00000355402	Q6UXK2		UPI000004C60F	NM_001130136.1	tolerated(0.17)		4/4		hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	74133886	74133886	C	A	1	0	0	0	0	1	0	0	0	7766	623	22	2		2	ISLR2	15	74133886	Missense_Mutation	SNP	C	C3N-00203_TP	110514	74133886	27857303	367	12315											
ANKRD34C	0	.	GRCh38	chr15	79294289	79294289	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaagcagcctatgagaaAggtcaggctccccacccacg	12	5	11	13	1	1	1	1	1	0	1	2	3	2	2	4	3	2	2	4	3	3	1	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.1005A>C	p.Lys335Asn	p.K335N	ENST00000421388	1/1	196	159	37	230	230	0	strelka-varscan-mutect	ANKRD34C,missense_variant,p.Lys335Asn,ENST00000421388,NM_001146341.1;	C	ENST00000421388	Transcript	missense_variant	1005/4951	1005/1608	335/535	K/N	aaA/aaC		1		1	ANKRD34C	HGNC	HGNC:33888	protein_coding	YES	CCDS53965.1	ENSP00000401089	P0C6C1		UPI0000160A7F	NM_001146341.1	tolerated(0.14)		1/1		hmmpanther:PTHR24157																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	42	79294289	79294289	A	C	1	0	0	0	0	1	0	0	0	769	69	3	5		5	ANKRD34C	15	79294289	Missense_Mutation	SNP	A	C3N-00203_TP	5160403	79294289	22696900	368	12316											
ADAMTSL3	0	.	GRCh38	chr15	83870869	83870869	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagccccggcgtctttctCgtagaaaacacaacagtgga	13	7	9	12	3	2	1	0	0	2	1	3	2	2	2	2	2	4	1	2	2	5	2	rs143597327		C3N-00203_TP	C3N-00203_NB	C	C																c.870C>A	p.=	p.L290L	ENST00000286744	9/30	265	226	39	259	259	0	strelka-varscan-mutect	ADAMTSL3,synonymous_variant,p.=,ENST00000286744,NM_207517.2;ADAMTSL3,synonymous_variant,p.=,ENST00000567476,NM_001301110.1;ADAMTSL3,upstream_gene_variant,,ENST00000567663,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,;	A	ENST00000286744	Transcript	synonymous_variant	1094/7336	870/5076	290/1691	L	ctC/ctA	rs143597327	1		1	ADAMTSL3	HGNC	HGNC:14633	protein_coding	YES	CCDS10326.1	ENSP00000286744	P82987		UPI00001615A5	NM_207517.2			9/30		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF169																	LOW	1	SNV	1			1										PASS		rs143597327	.												A	2	1	42	83870869	83870869	C	A	1	0	0	0	0	0	0	0	1	320	871	31	1		1	ADAMTSL3	15	83870869	Silent	SNP	C	C3N-00203_TP	4576580	83870869	18120320	369	12317											
SLC28A1	0	.	GRCh38	chr15	84905628	84905628	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaggattcattgcgttCgagtggctgggcgagcagat	9	9	15	8	3	1	1	1	0	0	1	2	5	1	2	1	3	3	3	1	3	1	3	rs768211693		C3N-00203_TP	C3N-00203_NB	C	C																c.693C>A	p.Phe231Leu	p.F231L	ENST00000394573	8/19	509	394	115	408	408	0	strelka-varscan-mutect	SLC28A1,missense_variant,p.Phe231Leu,ENST00000394573,NM_004213.4;SLC28A1,missense_variant,p.Phe231Leu,ENST00000286749,NM_001287762.1;SLC28A1,missense_variant,p.Phe231Leu,ENST00000538177,NM_001287761.1;	A	ENST00000394573	Transcript	missense_variant	916/2769	693/1950	231/649	F/L	ttC/ttA	rs768211693	1		1	SLC28A1	HGNC	HGNC:11001	protein_coding	YES	CCDS10334.1	ENSP00000378074	O00337		UPI000013DE67	NM_004213.4	deleterious(0.05)		8/19		hmmpanther:PTHR10590:SF16,hmmpanther:PTHR10590,Pfam_domain:PF01773,TIGRFAM_domain:TIGR00804																	MODERATE	1	SNV	1			1										PASS		rs768211693	.												A	3	1	42	84905628	84905628	C	A	1	0	0	0	0	1	0	0	0	14801	883	31	1		1	SLC28A1	15	84905628	Missense_Mutation	SNP	C	C3N-00203_TP	1034759	84905628	17085561	370	12318											
AGBL1	0	.	GRCh38	chr15	86266450	86266450	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttgtcttcagtttagatGagccttggtaggtagtctcg	8	15	12	6	1	3	2	1	1	2	1	4	2	3	2	1	2	1	4	1	2	4	7	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1744G>T	p.Glu582Ter	p.E582*	ENST00000441037	12/25	79	61	18	75	75	0	strelka-varscan-mutect	AGBL1,stop_gained,p.Glu582Ter,ENST00000441037,;AGBL1,stop_gained,p.Glu536Ter,ENST00000635782,NM_152336.2;AGBL1,stop_gained,p.Glu536Ter,ENST00000421325,;AGBL1,non_coding_transcript_exon_variant,,ENST00000567715,;AGBL1,non_coding_transcript_exon_variant,,ENST00000568785,;	T	ENST00000441037	Transcript	stop_gained	1744/3551	1744/3339	582/1112	E/*	Gag/Tag		1		1	AGBL1	Clone_based_vega_gene	HGNC:26504	protein_coding	YES		ENSP00000413001	Q96MI9		UPI000387C1D9				12/25		hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF5																	HIGH	1	SNV	5			1										PASS		rs1425281552	.												T	4	4	42	86266450	86266450	G	T	1	0	0	0	0	0	1	0	0	451	1291	45	2		2	AGBL1	15	86266450	Nonsense_Mutation	SNP	G	C3N-00203_TP	1360822	86266450	15724739	371	12319											
ACAN	0	.	GRCh38	chr15	88845525	88845525	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaagactttgtggacatcCcagaaaacttctttggagtg	11	12	11	7	0	1	3	0	1	1	2	2	5	2	5	1	2	1	0	1	2	3	3			C3N-00203_TP	C3N-00203_NB	C	C																c.1072C>A	p.Pro358Thr	p.P358T	ENST00000439576	7/18	68	52	16	62	62	0	strelka-varscan-mutect	ACAN,missense_variant,p.Pro358Thr,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Pro358Thr,ENST00000617301,;ACAN,missense_variant,p.Pro358Thr,ENST00000559004,;ACAN,missense_variant,p.Pro358Thr,ENST00000561243,;ACAN,missense_variant,p.Pro358Thr,ENST00000352105,NM_001135.3;ACAN,missense_variant,p.Pro358Thr,ENST00000558207,;	A	ENST00000439576	Transcript	missense_variant	1446/8840	1072/7593	358/2530	P/T	Cca/Aca	COSM3887706,COSM3887707	1		1	ACAN	HGNC	HGNC:319	protein_coding	YES	CCDS53970.1	ENSP00000387356		E7EX88	UPI0001B23381	NM_013227.3	deleterious(0.03)		7/18		hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	42	88845525	88845525	C	A	1	0	0	0	0	1	0	0	0	160	623	22	2		2	ACAN	15	88845525	Missense_Mutation	SNP	C	C3N-00203_TP	2579075	88845525	13145664	372	12320											
WDR93	0	.	GRCh38	chr15	89738124	89738124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaattttgaggcctgcccaCtcctggaaaatatctcaaaa	13	12	6	10	0	1	1	1	1	1	0	3	2	2	2	3	2	1	0	3	2	6	4	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1849C>A	p.Leu617Ile	p.L617I	ENST00000268130	16/17	178	153	25	138	138	0	strelka-varscan-mutect	WDR93,missense_variant,p.Leu617Ile,ENST00000268130,NM_020212.1;WDR93,missense_variant,p.Leu589Ile,ENST00000560294,NM_001284395.1;WDR93,non_coding_transcript_exon_variant,,ENST00000444934,;	A	ENST00000268130	Transcript	missense_variant	1950/2409	1849/2061	617/686	L/I	Ctc/Atc		1		1	WDR93	HGNC	HGNC:26924	protein_coding	YES	CCDS32326.1	ENSP00000268130	Q6P2C0		UPI00001D77A7	NM_020212.1	deleterious(0)		16/17		hmmpanther:PTHR12219:SF17,hmmpanther:PTHR12219																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	89738124	89738124	C	A	1	0	0	0	0	1	0	0	0	17896	565	20	2		2	WDR93	15	89738124	Missense_Mutation	SNP	C	C3N-00203_TP	892599	89738124	12253065	373	12321											
SRRM2	0	.	GRCh38	chr16	2763348	2763348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttctccaagtcctagtagGgtgacgtcgagaacaactcc	10	10	9	12	2	2	2	0	1	2	1	6	3	4	2	3	1	2	1	3	1	5	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.2820G>T	p.Arg940Ser	p.R940S	ENST00000301740	11/15	206	131	75	177	176	1	strelka-varscan-mutect	SRRM2,missense_variant,p.Arg940Ser,ENST00000301740,NM_016333.3;SRRM2,missense_variant,p.Arg940Ser,ENST00000576924,;SRRM2,missense_variant,p.Arg844Ser,ENST00000571378,;SRRM2,intron_variant,,ENST00000630499,;SRRM2,downstream_gene_variant,,ENST00000575009,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,downstream_gene_variant,,ENST00000576415,;SRRM2,upstream_gene_variant,,ENST00000574593,;SRRM2,upstream_gene_variant,,ENST00000572721,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,downstream_gene_variant,,ENST00000575870,;SRRM2,upstream_gene_variant,,ENST00000576674,;SRRM2,downstream_gene_variant,,ENST00000576894,;SRRM2,downstream_gene_variant,,ENST00000572952,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,upstream_gene_variant,,ENST00000573311,;SRRM2,downstream_gene_variant,,ENST00000570655,;SRRM2,downstream_gene_variant,,ENST00000571372,;SRRM2,downstream_gene_variant,,ENST00000573451,;	T	ENST00000301740	Transcript	missense_variant	3369/9353	2820/8259	940/2752	R/S	agG/agT		1		1	SRRM2	HGNC	HGNC:16639	protein_coding	YES	CCDS32373.1	ENSP00000301740	Q9UQ35	A0A140VK53	UPI000049DDFC	NM_016333.3	deleterious_low_confidence(0)		11/15		Low_complexity_(Seg):seg,hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	2763348	2763348	G	T	1	0	0	0	0	1	0	0	0	15530	1223	43	2		2	SRRM2	16	2763348	Missense_Mutation	SNP	G	C3N-00203_TP		2763348	87574997	374	12322											
MEFV	0	.	GRCh38	chr16	3254550	3254550	+	Frame_Shift_Del	DEL	C	C	-																															ggctccgggtccgaggcttgCcctgcgcgtccaggccctcc																								novel		C3N-00203_TP	C3N-00203_NB	C	C																c.518delG	p.Gly173AlafsTer22	p.G173Afs*22	ENST00000219596	2/10	50	28	22	55	55	0	sindel-varindel-pindel	MEFV,frameshift_variant,p.Gly173AlafsTer22,ENST00000219596,NM_000243.2;MEFV,intron_variant,,ENST00000339854,;MEFV,intron_variant,,ENST00000541159,NM_001198536.1;MEFV,intron_variant,,ENST00000536379,;MEFV,frameshift_variant,p.Gly173AlafsTer22,ENST00000542898,;MEFV,frameshift_variant,p.Gly173AlafsTer22,ENST00000537682,;MEFV,frameshift_variant,p.Gly173AlafsTer22,ENST00000538326,;MEFV,frameshift_variant,p.Gly173AlafsTer22,ENST00000570511,;MEFV,intron_variant,,ENST00000536980,;MEFV,intron_variant,,ENST00000539145,;MEFV,intron_variant,,ENST00000576315,;MEFV,intron_variant,,ENST00000574583,;MEFV,intron_variant,,ENST00000572244,;	-	ENST00000219596	Transcript	frameshift_variant	558/3499	518/2346	173/781	G/X	gGc/gc		1		-1	MEFV	HGNC	HGNC:6998	protein_coding	YES	CCDS10498.1	ENSP00000219596	O15553		UPI000004C0CA	NM_000243.2			2/10																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	42	3254550	3254550	C	-	1	0	1	0	1	0	0	0	0	9399	739	26	0		0	MEFV	16	3254550	Frame_Shift_Del	DEL	C	C3N-00203_TP	491202	3254550	87083795	375	12323											
FAM57B	0	.	GRCh38	chr16	30030487	30030487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttggagaggaggaagagtCcggggaacaccacccccccg	10	4	14	13	2	1	2	0	0	1	2	2	6	2	5	5	5	1	0	5	5	2	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.41G>T	p.Gly14Val	p.G14V	ENST00000380495	1/5	48	29	19	48	48	0	strelka-varscan-mutect	FAM57B,missense_variant,p.Gly14Val,ENST00000380495,NM_031478.4;FAM57B,intron_variant,,ENST00000561666,;FAM57B,upstream_gene_variant,,ENST00000564806,;FAM57B,upstream_gene_variant,,ENST00000279389,NM_001318504.1;FAM57B,downstream_gene_variant,,ENST00000571269,;C16orf92,downstream_gene_variant,,ENST00000569198,;C16orf92,downstream_gene_variant,,ENST00000567847,;FAM57B,downstream_gene_variant,,ENST00000567037,;FAM57B,intron_variant,,ENST00000569508,;	A	ENST00000380495	Transcript	missense_variant	773/2313	41/825	14/274	G/V	gGa/gTa		1		-1	FAM57B	HGNC	HGNC:25295	protein_coding	YES	CCDS10667.2	ENSP00000369863	Q71RH2	F1T0F5	UPI000022EE26	NM_031478.4	tolerated(0.05)		1/5		hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	30030487	30030487	C	A	1	0	0	0	0	1	0	0	0	5459	855	30	2		2	FAM57B	16	30030487	Missense_Mutation	SNP	C	C3N-00203_TP	26775937	30030487	60307858	376	12324											
ABCC11	0	.	GRCh38	chr16	48214980	48214980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttatacttgtcaggctCtggacaagcccgcacttctc	9	11	9	12	1	3	0	1	0	2	0	4	1	3	1	1	3	2	3	1	3	4	4	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1149G>T	p.Gln383His	p.Q383H	ENST00000394747	8/29	265	209	56	202	200	2	strelka-varscan-mutect	ABCC11,missense_variant,p.Gln383His,ENST00000394747,NM_033151.3;ABCC11,missense_variant,p.Gln383His,ENST00000356608,;ABCC11,missense_variant,p.Gln383His,ENST00000394748,NM_032583.3;ABCC11,missense_variant,p.Gln383His,ENST00000353782,NM_145186.2;ABCC11,downstream_gene_variant,,ENST00000565487,;ABCC11,non_coding_transcript_exon_variant,,ENST00000567385,;	A	ENST00000394747	Transcript	missense_variant	1499/4862	1149/4149	383/1382	Q/H	caG/caT		1		-1	ABCC11	HGNC	HGNC:14639	protein_coding	YES	CCDS10732.1	ENSP00000378230	Q96J66	A0A024R6Q6	UPI0000052711	NM_033151.3	deleterious(0)		8/29		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF168,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	48214980	48214980	C	A	1	0	0	0	0	1	0	0	0	55	912	32	2		2	ABCC11	16	48214980	Missense_Mutation	SNP	C	C3N-00203_TP	18184493	48214980	42123365	377	12325											
CES5A	0	.	GRCh38	chr16	55871654	55871654	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctgtatcggcgtgggCaggcgcatagatgttcaggt	7	9	17	8	3	1	1	1	0	0	1	2	2	1	2	1	5	1	4	1	5	2	3	rs772066729		C3N-00203_TP	C3N-00203_NB	C	C																c.475G>T	p.Ala159Ser	p.A159S	ENST00000521992	4/14	254	203	51	183	182	1	strelka-varscan-mutect	CES5A,missense_variant,p.Ala159Ser,ENST00000521992,NM_001190158.1;CES5A,missense_variant,p.Ala24Ser,ENST00000518005,;CES5A,missense_variant,p.Ala130Ser,ENST00000290567,NM_001143685.1;CES5A,missense_variant,p.Ala130Ser,ENST00000319165,NM_145024.2;CES5A,missense_variant,p.Ala24Ser,ENST00000536025,;CES5A,intron_variant,,ENST00000520435,;CES5A,intron_variant,,ENST00000541580,;CES5A,intron_variant,,ENST00000544479,;CES5A,missense_variant,p.Ala24Ser,ENST00000521228,;	A	ENST00000521992	Transcript	missense_variant	621/2258	475/1815	159/604	A/S	Gcc/Tcc	rs772066729	1		-1	CES5A	HGNC	HGNC:26459	protein_coding	YES	CCDS54012.1	ENSP00000428864	Q6NT32		UPI0001914B41	NM_001190158.1	deleterious(0.03)		4/14		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF43,Superfamily_domains:SSF53474																	MODERATE	1	SNV	2			1										PASS		rs772066729	.												A	3	1	42	55871654	55871654	C	A	1	0	0	0	0	1	0	0	0	3005	710	25	2		2	CES5A	16	55871654	Missense_Mutation	SNP	C	C3N-00203_TP	7656674	55871654	34466691	378	12326											
ADGRG3	0	.	GRCh38	chr16	57676261	57676261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacgcagaaggtgaacacgCctttcctgaaggctttggtc	9	10	12	10	2	0	4	0	3	0	1	2	4	1	4	2	3	1	2	2	3	3	2	rs200028157,rs781349146		C3N-00203_TP	C3N-00203_NB	C	C																c.268C>G	p.Pro90Ala	p.P90A	ENST00000333493	3/12	280	233	47	195	195	0	strelka-varscan-mutect	ADGRG3,missense_variant,p.Pro90Ala,ENST00000333493,NM_170776.4;ADGRG3,intron_variant,,ENST00000450388,NM_001308360.1;RP11-405F3.4,downstream_gene_variant,,ENST00000563062,;ADGRG3,missense_variant,p.Pro90Ala,ENST00000567991,;ADGRG3,3_prime_UTR_variant,,ENST00000568245,;ADGRG3,non_coding_transcript_exon_variant,,ENST00000565579,;ADGRG3,intron_variant,,ENST00000565902,;ADGRG3,upstream_gene_variant,,ENST00000569977,;	G	ENST00000333493	Transcript	missense_variant	429/2728	268/1650	90/549	P/A	Cct/Gct	rs200028157,rs781349146,COSM5385062	1		1	ADGRG3	HGNC	HGNC:13728	protein_coding	YES	CCDS10786.1	ENSP00000332900	Q86Y34		UPI000003C9E1	NM_170776.4	tolerated(0.34)		3/12		hmmpanther:PTHR12011:SF285,hmmpanther:PTHR12011											0,0,1						MODERATE	1	SNV	1		0,0,1	1										PASS		rs200028157	.												G	3	3	42	57676261	57676261	C	G	1	0	0	0	0	1	0	0	0	370	739	26	4		4	ADGRG3	16	57676261	Missense_Mutation	SNP	C	C3N-00203_TP	1804607	57676261	32662084	379	12327											
DYNC1LI2	0	.	GRCh38	chr16	66727745	66727745	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaggagctaggcacacTggctggccctccccgaccct	6	6	14	15	1	0	0	0	0	0	0	1	3	1	2	4	6	1	3	4	6	1	1	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.1204A>T	p.Ser402Cys	p.S402C	ENST00000258198	11/13	183	135	48	162	162	0	strelka-varscan-mutect	DYNC1LI2,missense_variant,p.Ser402Cys,ENST00000258198,NM_006141.2;DYNC1LI2,missense_variant,p.Ser325Cys,ENST00000443351,NM_001286157.1;DYNC1LI2,missense_variant,p.Ser77Cys,ENST00000569320,;DYNC1LI2,intron_variant,,ENST00000563628,;DYNC1LI2,downstream_gene_variant,,ENST00000440564,;RP11-63M22.2,intron_variant,,ENST00000569274,;DYNC1LI2,downstream_gene_variant,,ENST00000570201,;DYNC1LI2,missense_variant,p.Ser28Cys,ENST00000564559,;DYNC1LI2,non_coding_transcript_exon_variant,,ENST00000567499,;DYNC1LI2,non_coding_transcript_exon_variant,,ENST00000564833,;DYNC1LI2,intron_variant,,ENST00000568453,;DYNC1LI2,downstream_gene_variant,,ENST00000565532,;	A	ENST00000258198	Transcript	missense_variant	1411/4515	1204/1479	402/492	S/C	Agt/Tgt		1		-1	DYNC1LI2	HGNC	HGNC:2966	protein_coding	YES	CCDS10818.1	ENSP00000258198	O43237	A0A024R6Z0	UPI0000129A0D	NM_006141.2	deleterious(0.01)		11/13		Pfam_domain:PF05783,hmmpanther:PTHR12688,hmmpanther:PTHR12688:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1213933201	.												A	3	1	42	66727745	66727745	T	A	1	0	0	0	0	1	0	0	0	4669	1580	55	4		4	DYNC1LI2	16	66727745	Missense_Mutation	SNP	T	C3N-00203_TP	9051484	66727745	23610600	380	12328											
PMFBP1	0	.	GRCh38	chr16	72129089	72129089	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtctttctttttaaattCctgccgcaaagcttcaagtt	8	18	5	10	1	3	0	1	0	2	0	4	0	4	0	2	0	2	3	2	0	4	8	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1927G>T	p.Glu643Ter	p.E643*	ENST00000237353	13/21	184	153	31	137	137	0	strelka-varscan-mutect	PMFBP1,stop_gained,p.Glu648Ter,ENST00000537465,;PMFBP1,stop_gained,p.Glu643Ter,ENST00000237353,NM_031293.2;PMFBP1,stop_gained,p.Glu498Ter,ENST00000355636,NM_001160213.1;PMFBP1,upstream_gene_variant,,ENST00000537792,;PMFBP1,stop_gained,p.Glu446Ter,ENST00000537392,;PMFBP1,3_prime_UTR_variant,,ENST00000379073,;	A	ENST00000237353	Transcript	stop_gained	2189/3527	1927/3024	643/1007	E/*	Gaa/Taa		1		-1	PMFBP1	HGNC	HGNC:17728	protein_coding	YES	CCDS32483.1	ENSP00000237353	Q8TBY8		UPI0000141554	NM_031293.2			13/21		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18881,hmmpanther:PTHR18881:SF2																	HIGH	1	SNV	1			1										PASS		rs1393701267	.												A	4	1	42	72129089	72129089	C	A	1	0	0	0	0	0	1	0	0	12241	864	30	2		2	PMFBP1	16	72129089	Nonsense_Mutation	SNP	C	C3N-00203_TP	5401344	72129089	18209256	381	12329											
ZFHX3	0	.	GRCh38	chr16	72950751	72950751	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatgagtcccccatcacCgccttccactcgtcctccga	6	10	7	18	3	1	1	1	1	0	0	6	2	5	1	7	1	0	1	7	1	1	2	rs371914920		C3N-00203_TP	C3N-00203_NB	C	C																c.2934G>C	p.=	p.A978A	ENST00000268489	3/10	309	266	43	240	240	0	strelka-varscan-mutect	ZFHX3,synonymous_variant,p.=,ENST00000268489,NM_006885.3;ZFHX3,synonymous_variant,p.=,ENST00000397992,NM_001164766.1;	G	ENST00000268489	Transcript	synonymous_variant	3607/16064	2934/11112	978/3703	A	gcG/gcC	rs371914920	1		-1	ZFHX3	HGNC	HGNC:777	protein_coding	YES	CCDS10908.1	ENSP00000268489	Q15911		UPI00001AE937	NM_006885.3			3/10		hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208																	LOW	1	SNV	1			1										PASS		rs371914920	.												G	2	3	42	72950751	72950751	C	G	1	0	0	0	0	0	0	0	1	18212	639	23	4		4	ZFHX3	16	72950751	Silent	SNP	C	C3N-00203_TP	821662	72950751	17387594	382	12330											
GSE1	0	.	GRCh38	chr16	85666154	85666154	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggccaggctgagcgaggcCcctggaggcaaaaagagtct	12	4	15	10	1	1	2	0	1	1	1	1	4	1	3	3	5	1	2	3	5	3	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.2937C>A	p.=	p.A979A	ENST00000253458	13/16	506	404	102	385	385	0	strelka-varscan-mutect	GSE1,synonymous_variant,p.=,ENST00000253458,NM_014615.3;GSE1,synonymous_variant,p.=,ENST00000393243,NM_001278184.1;GSE1,synonymous_variant,p.=,ENST00000412692,;GSE1,synonymous_variant,p.=,ENST00000405402,NM_001134473.2;GSE1,synonymous_variant,p.=,ENST00000438180,;GSE1,non_coding_transcript_exon_variant,,ENST00000469381,;GSE1,non_coding_transcript_exon_variant,,ENST00000562659,;GSE1,downstream_gene_variant,,ENST00000479488,;GSE1,downstream_gene_variant,,ENST00000495192,;GSE1,upstream_gene_variant,,ENST00000496345,;	A	ENST00000253458	Transcript	synonymous_variant	3113/7495	2937/3654	979/1217	A	gcC/gcA		1		1	GSE1	HGNC	HGNC:28979	protein_coding	YES	CCDS10952.1	ENSP00000253458	Q14687		UPI0000185F04	NM_014615.3			13/16		hmmpanther:PTHR17608																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	42	85666154	85666154	C	A	1	0	0	0	0	0	0	0	1	6702	610	22	2		2	GSE1	16	85666154	Silent	SNP	C	C3N-00203_TP	12715403	85666154	4672191	383	12331											
CA5A	0	.	GRCh38	chr16	87904806	87904806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcggggtacgcgtggcCgtccactgtgtgctctgagc	3	10	15	13	4	2	1	0	1	2	0	3	1	3	1	2	3	4	2	2	3	1	1			C3N-00203_TP	C3N-00203_NB	C	C																c.439G>T	p.Gly147Cys	p.G147C	ENST00000309893	3/7	219	162	57	169	169	0	strelka-varscan-mutect	CA5A,missense_variant,p.Gly147Cys,ENST00000309893,NM_001739.1;	A	ENST00000309893	Transcript	missense_variant	505/7567	439/918	147/305	G/C	Ggc/Tgc	COSM974657	1		-1	CA5A	HGNC	HGNC:1377	protein_coding	YES	CCDS10965.1	ENSP00000309649	P35218		UPI0000126DF3	NM_001739.1	deleterious(0.04)		3/7		Gene3D:3.10.200.10,Pfam_domain:PF00194,PROSITE_patterns:PS00162,PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF89,SMART_domains:SM01057,Superfamily_domains:SSF51069											1						MODERATE	1	SNV	1		1	1										PASS		rs1226444061	.												A	3	1	42	87904806	87904806	C	A	1	0	0	0	0	1	0	0	0	2205	652	23	1		1	CA5A	16	87904806	Missense_Mutation	SNP	C	C3N-00203_TP	2238652	87904806	2433539	384	12332											
ZC3H18	0	.	GRCh38	chr16	88611464	88611464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaaggaccggcagcaccGtgaccgcgaccgggagaagg	11	1	17	12	6	0	3	0	1	0	2	0	7	0	4	4	4	1	2	4	4	2	0	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1475G>T	p.Arg492Leu	p.R492L	ENST00000452588	9/19	353	271	82	248	248	0	strelka-varscan-mutect	ZC3H18,missense_variant,p.Arg468Leu,ENST00000301011,NM_144604.3;ZC3H18,missense_variant,p.Arg492Leu,ENST00000452588,NM_001294340.1;ZC3H18,intron_variant,,ENST00000567085,;ZC3H18,non_coding_transcript_exon_variant,,ENST00000564161,;ZC3H18,downstream_gene_variant,,ENST00000568072,;	T	ENST00000452588	Transcript	missense_variant	1653/3211	1475/2934	492/977	R/L	cGt/cTt		1		1	ZC3H18	HGNC	HGNC:25091	protein_coding	YES	CCDS73924.1	ENSP00000416951		E7ERS3	UPI0001AE683F	NM_001294340.1	tolerated_low_confidence(0.07)		9/19		Low_complexity_(Seg):seg,hmmpanther:PTHR12506,hmmpanther:PTHR12506:SF22																	MODERATE	1	SNV	2			1										PASS		rs1445841130	.												T	3	4	42	88611464	88611464	G	T	1	0	0	0	0	1	0	0	0	18143	1145	40	1		1	ZC3H18	16	88611464	Missense_Mutation	SNP	G	C3N-00203_TP	706658	88611464	1726881	385	12333											
RP11-566K11.2	0	.	GRCh38	chr16	89919308	89919308	+	Frame_Shift_Del	DEL	C	C	-																															tctgggctccctcaactccaCccccacagccatcccccagc																								rs746774948		C3N-00203_TP	C3N-00203_NB	C	C																c.54delC	p.Thr19GlnfsTer33	p.T19Qfs*33	ENST00000555147	1/1	91	66	25	84	84	0	sindel-varindel-pindel	MC1R,frameshift_variant,p.Thr19GlnfsTer33,ENST00000555427,;MC1R,frameshift_variant,p.Thr19GlnfsTer33,ENST00000555147,NM_002386.3;RP11-566K11.2,frameshift_variant,p.Thr19GlnfsTer33,ENST00000556922,;TUBB3,upstream_gene_variant,,ENST00000554444,NM_001197181.1;TUBB3,upstream_gene_variant,,ENST00000315491,NM_006086.3;TUBB3,upstream_gene_variant,,ENST00000554336,;TUBB3,upstream_gene_variant,,ENST00000555810,;TUBB3,upstream_gene_variant,,ENST00000553967,;TUBB3,upstream_gene_variant,,ENST00000555576,;TUBB3,upstream_gene_variant,,ENST00000625617,;TUBB3,upstream_gene_variant,,ENST00000556565,;RP11-566K11.4,downstream_gene_variant,,ENST00000554623,;TUBB3,upstream_gene_variant,,ENST00000554116,;MC1R,downstream_gene_variant,,ENST00000539976,;TUBB3,upstream_gene_variant,,ENST00000555609,;TUBB3,upstream_gene_variant,,ENST00000556536,;TUBB3,upstream_gene_variant,,ENST00000557262,;TUBB3,upstream_gene_variant,,ENST00000557490,;TUBB3,upstream_gene_variant,,ENST00000554927,;RP11-566K11.7,downstream_gene_variant,,ENST00000570217,;TUBB3,upstream_gene_variant,,ENST00000553656,;	-	ENST00000555147	Transcript	frameshift_variant	1430/3099	50/954	17/317	T/X	aCc/ac	rs746774948	1		1	MC1R	HGNC	HGNC:6929	protein_coding	YES	CCDS56011.1	ENSP00000451605	Q01726	Q1JUL4	UPI00000622C3	NM_002386.3			1/1		Prints_domain:PR00536																	HIGH		deletion		4		1										PASS		.	.												-	7	5	42	89919308	89919308	C	-	1	0	1	0	1	0	0	0	0	13753	507	18	0		0	RP11-566K11.2	16	89919308	Frame_Shift_Del	DEL	C	C3N-00203_TP	1307844	89919308	419037	386	12334											
SCARF1	0	.	GRCh38	chr17	1635251	1635251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgctcagccactgtccggCcaccaagtgggggccgccgg	5	5	15	16	4	1	0	1	0	0	0	2	0	2	0	6	4	2	1	6	4	1	0			C3N-00203_TP	C3N-00203_NB	C	C																c.2000G>A	p.Gly667Asp	p.G667D	ENST00000263071	11/11	134	70	64	97	97	0	strelka-varscan-mutect	SCARF1,missense_variant,p.Gly667Asp,ENST00000263071,NM_003693.3;SCARF1,missense_variant,p.Gly581Asp,ENST00000348987,;SCARF1,3_prime_UTR_variant,,ENST00000571272,NM_145350.2;SCARF1,3_prime_UTR_variant,,ENST00000434376,;SCARF1,3_prime_UTR_variant,,ENST00000573852,;SCARF1,non_coding_transcript_exon_variant,,ENST00000576012,;SCARF1,downstream_gene_variant,,ENST00000570902,;	T	ENST00000263071	Transcript	missense_variant	2050/3443	2000/2493	667/830	G/D	gGc/gAc	COSM4723893	1		-1	SCARF1	HGNC	HGNC:16820	protein_coding	YES	CCDS11007.1	ENSP00000263071	Q14162		UPI00001AE868	NM_003693.3	tolerated(0.2)		11/11		hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF0											1						MODERATE	1	SNV	1		1	1										PASS		rs1175465160	.												T	3	4	42	1635251	1635251	C	T	1	0	0	0	0	1	0	0	0	14149	739	26	3		3	SCARF1	17	1635251	Missense_Mutation	SNP	C	C3N-00203_TP		1635251	81622190	387	12335											
WSCD1	0	.	GRCh38	chr17	6080893	6080893	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcacgaccctcgagtcagcCcagagctgctgctgggtgtg	6	8	14	13	2	1	1	1	0	0	1	2	3	1	1	2	1	5	4	2	1	0	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.235C>A	p.Pro79Thr	p.P79T	ENST00000574946	2/9	208	145	63	206	205	1	strelka-varscan-mutect	WSCD1,missense_variant,p.Pro79Thr,ENST00000574946,;WSCD1,missense_variant,p.Pro79Thr,ENST00000317744,NM_015253.1;WSCD1,missense_variant,p.Pro79Thr,ENST00000539421,;WSCD1,missense_variant,p.Pro79Thr,ENST00000574232,;WSCD1,missense_variant,p.Pro79Thr,ENST00000576083,;WSCD1,missense_variant,p.Pro79Thr,ENST00000571973,;WSCD1,intron_variant,,ENST00000573634,;WSCD1,downstream_gene_variant,,ENST00000573619,;WSCD1,downstream_gene_variant,,ENST00000576233,;WSCD1,upstream_gene_variant,,ENST00000576947,;WSCD1,downstream_gene_variant,,ENST00000572764,;WSCD1,missense_variant,p.Pro51Thr,ENST00000571494,;	A	ENST00000574946	Transcript	missense_variant	625/5884	235/1728	79/575	P/T	Cca/Aca		1		1	WSCD1	HGNC	HGNC:29060	protein_coding	YES	CCDS32538.1	ENSP00000460825	Q658N2		UPI0000197208		tolerated(0.43)		2/9																			MODERATE	1	SNV	2			1										PASS		rs1299813039	.												A	3	1	42	6080893	6080893	C	A	1	0	0	0	0	1	0	0	0	17963	623	22	2		2	WSCD1	17	6080893	Missense_Mutation	SNP	C	C3N-00203_TP	4445642	6080893	77176548	388	12336											
TP53	0	.	GRCh38	chr17	7675076	7675076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			C3N-00203_TP	C3N-00203_NB	T	T																c.536A>G	p.His179Arg	p.H179R	ENST00000269305	5/11	338	212	126	340	340	0	strelka-varscan-mutect	TP53,missense_variant,p.His179Arg,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.His179Arg,ENST00000420246,;TP53,missense_variant,p.His140Arg,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.His140Arg,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.His179Arg,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.His140Arg,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.His179Arg,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.His140Arg,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.His179Arg,ENST00000445888,;TP53,missense_variant,p.His140Arg,ENST00000619485,;TP53,missense_variant,p.His47Arg,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.His20Arg,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.His47Arg,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.His20Arg,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.His47Arg,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.His20Arg,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.His179Arg,ENST00000359597,;TP53,missense_variant,p.His168Arg,ENST00000615910,;TP53,missense_variant,p.His179Arg,ENST00000413465,;TP53,missense_variant,p.His47Arg,ENST00000509690,;TP53,missense_variant,p.His86Arg,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,missense_variant,p.His140Arg,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	C	ENST00000269305	Transcript	missense_variant	726/2579	536/1182	179/393	H/R	cAt/cGt	TP53_g.12524A>G,TP53_g.12524A>C,TP53_g.12524del,TP53_g.12524A>T,COSM10889,COSM129844,COSM129845,COSM129846,COSM129847,COSM1645241,COSM1731642,COSM214222,COSM214223,COSM214224,COSM214225,COSM3396280,COSM3980298,COSM43635,COSM44218,COSM44627	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		5/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386											0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs1057519991	.												C	3	2	42	7675076	7675076	T	C	1	0	0	0	0	1	0	0	0	16859	1464	51	5		5	TP53	17	7675076	Missense_Mutation	SNP	T	C3N-00203_TP	1594183	7675076	75582365	389	12337											
BORCS6	0	.	GRCh38	chr17	8189428	8189428	+	Missense_Mutation	SNP	G	G	C																															gcgctgggcagggccgcgcaGgggcagaaggcgggggtgga																								novel		C3N-00203_TP	C3N-00203_NB	G	G																c.713C>G	p.Pro238Arg	p.P238R	ENST00000389017	1/1	74	48	26	88	88	0	strelka-varscan-mutect	BORCS6,missense_variant,p.Pro238Arg,ENST00000389017,NM_017622.2;AC129492.1,missense_variant,p.Gly60Arg,ENST00000622992,;MIR4521,downstream_gene_variant,,ENST00000635897,;	C	ENST00000389017	Transcript	missense_variant	1480/2575	713/1074	238/357	P/R	cCt/cGt		1		-1	BORCS6	HGNC	HGNC:25939	protein_coding	YES	CCDS11133.2	ENSP00000373669	Q96GS4		UPI000022A2C3	NM_017622.2	deleterious(0.03)		1/1		Pfam_domain:PF10157,hmmpanther:PTHR13440,hmmpanther:PTHR13440:SF7,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	42	8189428	8189428	G	C	1	0	0	0	0	1	0	0	0	1648	1000	35	4		4	BORCS6	17	8189428	Missense_Mutation	SNP	G	C3N-00203_TP	514352	8189428	75068013	390	12338	278	2									
BORCS6	0	.	GRCh38	chr17	8189431	8189431	+	Missense_Mutation	SNP	G	G	C																															ctgggcagggccgcgcagggGcagaaggcgggggtggaggc																								novel		C3N-00203_TP	C3N-00203_NB	G	G																c.710C>G	p.Ala237Gly	p.A237G	ENST00000389017	1/1	74	49	25	85	85	0	strelka-varscan-mutect	BORCS6,missense_variant,p.Ala237Gly,ENST00000389017,NM_017622.2;AC129492.1,missense_variant,p.Ala61Pro,ENST00000622992,;MIR4521,downstream_gene_variant,,ENST00000635897,;	C	ENST00000389017	Transcript	missense_variant	1477/2575	710/1074	237/357	A/G	gCc/gGc		1		-1	BORCS6	HGNC	HGNC:25939	protein_coding	YES	CCDS11133.2	ENSP00000373669	Q96GS4		UPI000022A2C3	NM_017622.2	deleterious(0.05)		1/1		Pfam_domain:PF10157,hmmpanther:PTHR13440,hmmpanther:PTHR13440:SF7,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		rs989491329	.												C	3	2	42	8189431	8189431	G	C	1	0	0	0	0	1	0	0	0	1648	1203	42	4		4	BORCS6	17	8189431	Missense_Mutation	SNP	G	C3N-00203_TP	3	8189431	75068010	391	12339	278	2									
MYH8	0	.	GRCh38	chr17	10400538	10400538	+	Missense_Mutation	SNP	C	C	T																															tactgtctgcgtgcttcttcCgaagagcagccaccatagct																										C3N-00203_TP	C3N-00203_NB	C	C																c.3587G>A	p.Arg1196Gln	p.R1196Q	ENST00000403437	27/40	336	264	72	384	384	0	strelka-mutect	MYH8,missense_variant,p.Arg1196Gln,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000403437	Transcript	missense_variant	3682/6041	3587/5814	1196/1937	R/Q	cGg/cAg	COSM4704678	1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2	deleterious(0.01)		27/40		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF368,hmmpanther:PTHR13140,Pfam_domain:PF01576											1						MODERATE		SNV	5		1	1										PASS		rs1340594495	.												T	3	4	42	10400538	10400538	C	T	1	0	0	0	0	1	0	0	0	10041	652	23	1		1	MYH8	17	10400538	Missense_Mutation	SNP	C	C3N-00203_TP	2211107	10400538	72856903	392	12340	279	3									
MYH8	0	.	GRCh38	chr17	10400539	10400539	+	Silent	SNP	G	G	T																															actgtctgcgtgcttcttccGaagagcagccaccatagctt																								rs765916450		C3N-00203_TP	C3N-00203_NB	G	G																c.3586C>A	p.=	p.R1196R	ENST00000403437	27/40	331	264	67	394	394	0	strelka-mutect	MYH8,synonymous_variant,p.=,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000403437	Transcript	synonymous_variant	3681/6041	3586/5814	1196/1937	R	Cgg/Agg	rs765916450	1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2			27/40		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF368,hmmpanther:PTHR13140,Pfam_domain:PF01576																	LOW		SNV	5			1										PASS		rs765916450	.												T	2	4	42	10400539	10400539	G	T	1	0	0	0	0	0	0	0	1	10041	1057	37	1		1	MYH8	17	10400539	Silent	SNP	G	C3N-00203_TP	1	10400539	72856902	393	12341	279	3									
MYH8	0	.	GRCh38	chr17	10400540	10400540	+	Silent	SNP	A	A	T																															ctgtctgcgtgcttcttccgAagagcagccaccatagcttc																								novel		C3N-00203_TP	C3N-00203_NB	A	A																c.3585T>A	p.=	p.L1195L	ENST00000403437	27/40	328	260	68	397	396	1	strelka-mutect	MYH8,synonymous_variant,p.=,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000403437	Transcript	synonymous_variant	3680/6041	3585/5814	1195/1937	L	ctT/ctA		1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2			27/40		hmmpanther:PTHR13140:SF368,hmmpanther:PTHR13140,Pfam_domain:PF01576																	LOW		SNV	5			1										PASS		.	.												T	2	4	42	10400540	10400540	A	T	1	0	0	0	0	0	0	0	1	10041	233	9	4		4	MYH8	17	10400540	Silent	SNP	A	C3N-00203_TP	1	10400540	72856901	394	12342	279	3									
MYH2	0	.	GRCh38	chr17	10528956	10528956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgaagtggccccacCggcttcttccagcctctcgc	4	9	11	17	2	2	1	0	1	2	0	4	1	3	1	5	3	1	2	5	3	1	2	rs781461127		C3N-00203_TP	C3N-00203_NB	C	C																c.3478G>T	p.Gly1160Cys	p.G1160C	ENST00000245503	27/40	501	348	153	492	492	0	strelka-varscan-mutect	MYH2,missense_variant,p.Gly1160Cys,ENST00000245503,NM_017534.5;MYH2,missense_variant,p.Gly1160Cys,ENST00000397183,NM_001100112.1;MYH2,intron_variant,,ENST00000532183,;MYH2,intron_variant,,ENST00000622564,;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000245503	Transcript	missense_variant	3863/6339	3478/5826	1160/1941	G/C	Ggt/Tgt	rs781461127	1		-1	MYH2	HGNC	HGNC:7572	protein_coding	YES	CCDS11156.1	ENSP00000245503	Q9UKX2		UPI000012FB6C	NM_017534.5	deleterious(0)		27/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF385,Superfamily_domains:SSF90257																	MODERATE	1	SNV	1			1										PASS		rs781461127	.												A	3	1	42	10528956	10528956	C	A	1	0	0	0	0	1	0	0	0	10035	652	23	1		1	MYH2	17	10528956	Missense_Mutation	SNP	C	C3N-00203_TP	128416	10528956	72728485	395	12343											
NCOR1	0	.	GRCh38	chr17	16139119	16139119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgttaatgaacttgactCgtctttgttctgcatcaaac	10	16	6	9	1	4	2	2	2	2	0	5	2	4	2	0	0	3	3	0	0	3	4	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1241G>T	p.Arg414Leu	p.R414L	ENST00000268712	12/46	174	139	35	184	183	1	strelka-varscan-mutect	NCOR1,missense_variant,p.Arg414Leu,ENST00000268712,NM_006311.3;NCOR1,missense_variant,p.Arg305Leu,ENST00000395857,;NCOR1,missense_variant,p.Arg414Leu,ENST00000395851,NM_001190440.1;NCOR1,missense_variant,p.Arg305Leu,ENST00000395848,NM_001190438.1;NCOR1,missense_variant,p.Arg423Leu,ENST00000436828,;NCOR1,missense_variant,p.Arg414Leu,ENST00000411510,;NCOR1,missense_variant,p.Arg423Leu,ENST00000582357,;RNU6-862P,upstream_gene_variant,,ENST00000362804,;NCOR1,3_prime_UTR_variant,,ENST00000460276,;	A	ENST00000268712	Transcript	missense_variant	1499/10720	1241/7323	414/2440	R/L	cGa/cTa		1		-1	NCOR1	HGNC	HGNC:7672	protein_coding	YES	CCDS11175.1	ENSP00000268712	O75376	A0A024RD47	UPI000013D7D5	NM_006311.3	deleterious(0)		12/46		hmmpanther:PTHR13992:SF5,hmmpanther:PTHR13992																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	16139119	16139119	C	A	1	0	0	0	0	1	0	0	0	10254	884	31	1		1	NCOR1	17	16139119	Missense_Mutation	SNP	C	C3N-00203_TP	5610163	16139119	67118322	396	12344											
GRAP	0	.	GRCh38	chr17	19021951	19021951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttggccagatcggccgcCgggctgctcacaggtgcacg	5	6	15	15	5	1	1	1	0	0	1	2	1	1	1	4	4	2	4	4	4	0	1	rs766873552		C3N-00203_TP	C3N-00203_NB	C	C																c.493G>T	p.Gly165Cys	p.G165C	ENST00000573099	4/4	29	19	10	18	18	0	strelka-varscan-mutect	GRAP,missense_variant,p.Gly165Cys,ENST00000573099,;SLC5A10,3_prime_UTR_variant,,ENST00000317977,NM_001282417.1;GRAP,3_prime_UTR_variant,,ENST00000284154,NM_006613.3;GRAP,3_prime_UTR_variant,,ENST00000395635,;SLC5A10,downstream_gene_variant,,ENST00000395647,NM_152351.4;SLC5A10,downstream_gene_variant,,ENST00000395645,NM_001042450.2;SLC5A10,downstream_gene_variant,,ENST00000417251,NM_001270649.1;SLC5A10,downstream_gene_variant,,ENST00000395643,NM_001270648.1;GRAP,3_prime_UTR_variant,,ENST00000583020,;SLC5A10,downstream_gene_variant,,ENST00000584658,;	A	ENST00000573099	Transcript	missense_variant	564/846	493/618	165/205	G/C	Ggc/Tgc	rs766873552	1		-1	GRAP	HGNC	HGNC:4562	protein_coding			ENSP00000459833		I3L2P9	UPI0000E59E8D		deleterious_low_confidence(0.01)		4/4																			MODERATE		SNV	3			1										PASS		rs766873552	.												A	3	1	42	19021951	19021951	C	A	1	0	0	0	0	1	0	0	0	6632	652	23	1		1	GRAP	17	19021951	Missense_Mutation	SNP	C	C3N-00203_TP	2882832	19021951	64235490	397	12345											
TNFAIP1	0	.	GRCh38	chr17	28339623	28339623	+	Frame_Shift_Del	DEL	G	G	-																															aagtatgtccagctcaacgtGggcggctctctgtactacac																								novel		C3N-00203_TP	C3N-00203_NB	G	G																c.104delG	p.Gly35AlafsTer12	p.G35Afs*12	ENST00000226225	2/7	183	163	20	140	140	0	varindel-pindel	TNFAIP1,frameshift_variant,p.Gly35AlafsTer12,ENST00000226225,NM_021137.4;TNFAIP1,frameshift_variant,p.Gly35AlafsTer12,ENST00000582302,;TNFAIP1,frameshift_variant,p.Gly35AlafsTer12,ENST00000578158,;TNFAIP1,intron_variant,,ENST00000544907,;IFT20,upstream_gene_variant,,ENST00000585089,NM_001267774.1;IFT20,upstream_gene_variant,,ENST00000357896,NM_174887.3;IFT20,upstream_gene_variant,,ENST00000585313,NM_001267775.1;IFT20,upstream_gene_variant,,ENST00000578122,;IFT20,upstream_gene_variant,,ENST00000578985,;IFT20,upstream_gene_variant,,ENST00000395418,NM_001267776.1;IFT20,upstream_gene_variant,,ENST00000579419,NM_001267777.1;IFT20,upstream_gene_variant,,ENST00000588477,NM_001267778.1;IFT20,upstream_gene_variant,,ENST00000577498,;TNFAIP1,upstream_gene_variant,,ENST00000577535,;TNFAIP1,intron_variant,,ENST00000583213,;IFT20,upstream_gene_variant,,ENST00000582797,;IFT20,upstream_gene_variant,,ENST00000578547,;IFT20,upstream_gene_variant,,ENST00000322326,;IFT20,upstream_gene_variant,,ENST00000580357,;IFT20,upstream_gene_variant,,ENST00000580991,;	-	ENST00000226225	Transcript	frameshift_variant	369/3627	102/951	34/316	V/X	gtG/gt		1		1	TNFAIP1	HGNC	HGNC:11894	protein_coding	YES	CCDS11227.1	ENSP00000226225	Q13829		UPI00001370D5	NM_021137.4			2/7		Gene3D:3.30.710.10,Pfam_domain:PF02214,PROSITE_profiles:PS50097,hmmpanther:PTHR11145,hmmpanther:PTHR11145:SF17,SMART_domains:SM00225,Superfamily_domains:SSF54695																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	42	28339623	28339623	G	-	1	0	1	0	1	0	0	0	0	16746	1335	47	0		0	TNFAIP1	17	28339623	Frame_Shift_Del	DEL	G	C3N-00203_TP	9317672	28339623	54917818	398	12346											
ARL5C	0	.	GRCh38	chr17	39161303	39161303	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatatagctcctcccgagTggtcagcagccgatcccggt	7	11	10	13	3	1	0	1	0	0	0	4	2	4	0	4	2	3	2	4	2	3	4	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.304A>T	p.Thr102Ser	p.T102S	ENST00000269586	4/6	343	200	143	306	306	0	strelka-varscan-mutect	ARL5C,missense_variant,p.Thr102Ser,ENST00000269586,NM_001143968.1;RP5-906A24.1,upstream_gene_variant,,ENST00000623613,;ARL5C,downstream_gene_variant,,ENST00000583123,;ARL5C,missense_variant,p.Thr25Ser,ENST00000578912,;ARL5C,downstream_gene_variant,,ENST00000581554,;ARL5C,downstream_gene_variant,,ENST00000581255,;	A	ENST00000269586	Transcript	missense_variant	304/540	304/540	102/179	T/S	Act/Tct		1		-1	ARL5C	HGNC	HGNC:31111	protein_coding	YES	CCDS45664.1	ENSP00000269586	A6NH57		UPI00001600CC	NM_001143968.1	tolerated(0.27)		4/6		Gene3D:3.40.50.300,Pfam_domain:PF00025,PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF148,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	42	39161303	39161303	T	A	1	0	0	0	0	1	0	0	0	1080	1696	59	4		4	ARL5C	17	39161303	Missense_Mutation	SNP	T	C3N-00203_TP	10821680	39161303	44096138	399	12347											
KRT28	0	.	GRCh38	chr17	40799627	40799627	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtcattaagattttgcatGgtcaccttctcatttccaga	9	15	7	10	1	3	2	3	0	1	2	5	2	4	2	2	2	1	1	2	2	1	5	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.267C>A	p.=	p.T89T	ENST00000306658	1/8	356	244	112	337	337	0	strelka-varscan-mutect	KRT28,synonymous_variant,p.=,ENST00000306658,NM_181535.3;RP11-605F20.1,upstream_gene_variant,,ENST00000582101,;	T	ENST00000306658	Transcript	synonymous_variant	333/1685	267/1395	89/464	T	acC/acA		1		-1	KRT28	HGNC	HGNC:30842	protein_coding	YES	CCDS11376.1	ENSP00000305263	Q7Z3Y7		UPI0000246D70	NM_181535.3			1/8		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF215,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF64593																	LOW	1	SNV	1			1										PASS		rs1184386216	.												T	2	4	42	40799627	40799627	G	T	1	0	0	0	0	0	0	0	1	8347	1335	47	2		2	KRT28	17	40799627	Silent	SNP	G	C3N-00203_TP	1638324	40799627	42457814	400	12348											
JUP	0	.	GRCh38	chr17	41771736	41771736	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcctcctccatgatgcccTtgctgctgacggagggcacg	6	9	11	15	2	0	2	0	2	0	0	3	3	3	3	4	2	3	3	4	2	0	1	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.119A>G	p.Lys40Arg	p.K40R	ENST00000393931	2/14	654	394	260	546	546	0	strelka-varscan-mutect	JUP,missense_variant,p.Lys40Arg,ENST00000393931,NM_002230.2;JUP,missense_variant,p.Lys40Arg,ENST00000393930,;JUP,missense_variant,p.Lys40Arg,ENST00000310706,NM_021991.2;JUP,missense_variant,p.Lys40Arg,ENST00000449889,;JUP,missense_variant,p.Lys40Arg,ENST00000437187,;JUP,missense_variant,p.Lys40Arg,ENST00000424457,;JUP,missense_variant,p.Lys40Arg,ENST00000420370,;JUP,missense_variant,p.Lys40Arg,ENST00000437369,;JUP,missense_variant,p.Lys40Arg,ENST00000591690,;JUP,downstream_gene_variant,,ENST00000465293,;JUP,non_coding_transcript_exon_variant,,ENST00000589036,;	C	ENST00000393931	Transcript	missense_variant	238/3497	119/2238	40/745	K/R	aAg/aGg		1		-1	JUP	HGNC	HGNC:6207	protein_coding	YES	CCDS11407.1	ENSP00000377508	P14923	A0A0S2Z487	UPI0000073ED4	NM_002230.2	tolerated(0.22)		2/14																			MODERATE	1	SNV	1			1										PASS		rs113994176	.												C	3	2	42	41771736	41771736	T	C	1	0	0	0	0	1	0	0	0	7882	1609	56	5		5	JUP	17	41771736	Missense_Mutation	SNP	T	C3N-00203_TP	972109	41771736	41485705	401	12349											
TLK2	0	.	GRCh38	chr17	62574410	62574410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagcccacagtttacttaGgtgagatgaacagacgaata	15	8	11	7	1	0	3	0	2	0	2	0	6	0	4	1	2	3	1	1	2	5	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1187G>T	p.Arg396Met	p.R396M	ENST00000326270	13/23	256	160	96	218	216	2	strelka-varscan-mutect	TLK2,missense_variant,p.Arg396Met,ENST00000326270,NM_001284333.1;TLK2,intron_variant,,ENST00000582809,;TLK2,intron_variant,,ENST00000346027,NM_006852.3;TLK2,intron_variant,,ENST00000343388,NM_001284363.1;TLK2,intron_variant,,ENST00000581041,;TLK2,intron_variant,,ENST00000578697,;TLK2,intron_variant,,ENST00000584367,;	T	ENST00000326270	Transcript	missense_variant,splice_region_variant	1455/3512	1187/2319	396/772	R/M	aGg/aTg		1		1	TLK2	HGNC	HGNC:11842	protein_coding	YES	CCDS62283.1	ENSP00000316512	Q86UE8		UPI00001B6B0E	NM_001284333.1	tolerated(0.07)		13/23		hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF20																	MODERATE	1	SNV	1			1										PASS		rs1284424623	.												T	3	4	42	62574410	62574410	G	T	1	0	0	0	0	1	0	0	0	16390	1014	35	2		2	TLK2	17	62574410	Missense_Mutation	SNP	G	C3N-00203_TP	20802674	62574410	20683031	402	12350											
COLEC12	0	.	GRCh38	chr18	335114	335114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaattgggcctctctcacCcgcagggccaggtggtccag	6	8	12	15	1	2	0	1	0	1	0	5	0	4	0	5	4	0	1	5	4	1	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1444G>T	p.Gly482Cys	p.G482C	ENST00000400256	6/10	221	159	62	193	191	2	strelka-varscan-mutect	COLEC12,missense_variant,p.Gly482Cys,ENST00000400256,NM_130386.2;COLEC12,non_coding_transcript_exon_variant,,ENST00000582147,;	A	ENST00000400256	Transcript	missense_variant	1652/5742	1444/2229	482/742	G/C	Ggt/Tgt		1		-1	COLEC12	HGNC	HGNC:16016	protein_coding	YES	CCDS32782.1	ENSP00000383115	Q5KU26		UPI00002018EC	NM_130386.2	deleterious(0)		6/10		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF597,hmmpanther:PTHR24023,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	335114	335114	C	A	1	0	0	0	0	1	0	0	0	3502	623	22	2		2	COLEC12	18	335114	Missense_Mutation	SNP	C	C3N-00203_TP		335114	80038171	403	12351											
DLGAP1	0	.	GRCh38	chr18	3729312	3729312	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcttccacggcctgcgactCcagctcgctgaacacggact	7	7	10	17	5	0	1	0	1	0	0	3	3	2	2	3	2	3	3	3	2	1	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1414G>T	p.Glu472Ter	p.E472*	ENST00000315677	7/13	256	198	58	163	163	0	strelka-varscan-mutect	DLGAP1,stop_gained,p.Glu472Ter,ENST00000315677,NM_004746.3;DLGAP1,stop_gained,p.Glu178Ter,ENST00000400150,NM_001308390.1;DLGAP1,stop_gained,p.Glu184Ter,ENST00000515196,NM_001242763.1;DLGAP1,stop_gained,p.Glu170Ter,ENST00000400147,NM_001003809.2;DLGAP1,stop_gained,p.Glu178Ter,ENST00000400155,NM_001242764.1;DLGAP1,stop_gained,p.Glu180Ter,ENST00000400149,;DLGAP1,stop_gained,p.Glu472Ter,ENST00000581527,NM_001242761.1;DLGAP1,stop_gained,p.Glu170Ter,ENST00000539435,NM_001242766.1;DLGAP1,stop_gained,p.Glu184Ter,ENST00000534970,NM_001242762.1;DLGAP1,stop_gained,p.Glu178Ter,ENST00000581699,;DLGAP1,stop_gained,p.Glu170Ter,ENST00000400145,NM_001242765.1;DLGAP1,non_coding_transcript_exon_variant,,ENST00000478161,;DLGAP1,non_coding_transcript_exon_variant,,ENST00000498188,;DLGAP1,non_coding_transcript_exon_variant,,ENST00000485480,;DLGAP1,non_coding_transcript_exon_variant,,ENST00000486430,;	A	ENST00000315677	Transcript	stop_gained	2010/6683	1414/2934	472/977	E/*	Gag/Tag		1		-1	DLGAP1	HGNC	HGNC:2905	protein_coding	YES	CCDS11836.1	ENSP00000316377	O14490		UPI0000129490	NM_004746.3			7/13		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF7																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	42	3729312	3729312	C	A	1	0	0	0	0	0	1	0	0	4366	864	30	2		2	DLGAP1	18	3729312	Nonsense_Mutation	SNP	C	C3N-00203_TP	3394198	3729312	76643973	404	12352											
EPB41L3	0	.	GRCh38	chr18	5428441	5428441	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accacttgcacaaactcctaAcataatttctaccccttctg	12	12	2	15	0	2	0	0	0	2	0	3	0	3	0	4	0	4	1	4	0	4	6	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.937T>A	p.Leu313Ile	p.L313I	ENST00000341928	9/23	217	162	55	183	183	0	strelka-varscan-mutect	EPB41L3,missense_variant,p.Leu313Ile,ENST00000341928,NM_012307.3;EPB41L3,missense_variant,p.Leu313Ile,ENST00000342933,;EPB41L3,missense_variant,p.Leu171Ile,ENST00000400111,;EPB41L3,missense_variant,p.Leu313Ile,ENST00000544123,NM_001281533.1;EPB41L3,missense_variant,p.Leu313Ile,ENST00000540638,NM_001281534.1;EPB41L3,missense_variant,p.Leu204Ile,ENST00000545076,NM_001281535.1;EPB41L3,intron_variant,,ENST00000584670,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,downstream_gene_variant,,ENST00000581757,;EPB41L3,downstream_gene_variant,,ENST00000578432,;EPB41L3,missense_variant,p.Leu204Ile,ENST00000637651,;	T	ENST00000341928	Transcript	missense_variant	1278/4706	937/3264	313/1087	L/I	Tta/Ata		1		-1	EPB41L3	HGNC	HGNC:3380	protein_coding	YES	CCDS11838.1	ENSP00000343158	Q9Y2J2		UPI0000129AFA	NM_012307.3	deleterious(0)		9/23		PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,Pfam_domain:PF09380,Gene3D:2.30.29.30,SMART_domains:SM01196,Superfamily_domains:SSF50729,Prints_domain:PR00661																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	5428441	5428441	A	T	1	0	0	0	0	1	0	0	0	5001	40	2	4		4	EPB41L3	18	5428441	Missense_Mutation	SNP	A	C3N-00203_TP	1699129	5428441	74944844	405	12353											
LAMA1	0	.	GRCh38	chr18	6956749	6956749	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcatggccaactgcacTgttgaaatccaaaagtctag	12	11	8	10	0	2	1	1	1	1	0	3	1	3	1	2	1	3	3	2	1	5	3	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.7981A>T	p.Ser2661Cys	p.S2661C	ENST00000389658	56/63	418	330	88	356	356	0	strelka-varscan-mutect	LAMA1,missense_variant,p.Ser2661Cys,ENST00000389658,NM_005559.3;RP11-781P6.1,non_coding_transcript_exon_variant,,ENST00000584722,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488089,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,upstream_gene_variant,,ENST00000492048,;	A	ENST00000389658	Transcript	missense_variant	8075/9657	7981/9228	2661/3075	S/C	Agt/Tgt		1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	deleterious(0.03)		56/63		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299,Superfamily_domains:SSF49899																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	42	6956749	6956749	T	A	1	0	0	0	0	1	0	0	0	8509	1580	55	4		4	LAMA1	18	6956749	Missense_Mutation	SNP	T	C3N-00203_TP	1528308	6956749	73416536	406	12354											
LAMA1	0	.	GRCh38	chr18	7009307	7009307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatatcgctgaggacagaCataaaatcctctcgcgtgac	13	9	8	11	3	2	3	1	2	1	1	5	4	3	4	1	1	0	1	1	1	4	2	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.3933G>A	p.Met1311Ile	p.M1311I	ENST00000389658	27/63	489	403	86	439	439	0	strelka-varscan-mutect	LAMA1,missense_variant,p.Met1311Ile,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	T	ENST00000389658	Transcript	missense_variant	4027/9657	3933/9228	1311/3075	M/I	atG/atA		1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	deleterious(0)		27/63		Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299,SMART_domains:SM00281																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	42	7009307	7009307	C	T	1	0	0	0	0	1	0	0	0	8509	478	17	3		3	LAMA1	18	7009307	Missense_Mutation	SNP	C	C3N-00203_TP	52558	7009307	73363978	407	12355											
PIEZO2	0	.	GRCh38	chr18	10691296	10691296	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggactcgcgttgggtaGccacaacggatctggtaagc	9	7	13	12	3	1	0	0	0	1	0	2	2	1	2	2	4	3	3	2	4	3	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.6939C>T	p.=	p.G2313G	ENST00000503781	44/52	295	250	45	219	218	1	strelka-varscan-mutect	PIEZO2,synonymous_variant,p.=,ENST00000383408,;PIEZO2,synonymous_variant,p.=,ENST00000302079,;PIEZO2,synonymous_variant,p.=,ENST00000580640,;PIEZO2,synonymous_variant,p.=,ENST00000503781,NM_022068.3;PIEZO2,synonymous_variant,p.=,ENST00000538948,;PIEZO2,3_prime_UTR_variant,,ENST00000582913,;	A	ENST00000503781	Transcript	synonymous_variant	6939/8259	6939/8259	2313/2752	G	ggC/ggT		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3			44/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	10691296	10691296	G	A	1	0	0	0	0	0	0	0	1	11975	958	34	3		3	PIEZO2	18	10691296	Silent	SNP	G	C3N-00203_TP	3681989	10691296	69681989	408	12356											
SLC35G4	0	.	GRCh38	chr18	11609847	11609847	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttccacctccctattgcCctgctacttaaactgcgtgg	6	13	6	16	1	1	0	0	0	1	0	3	0	3	0	4	1	5	1	4	1	4	5	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.252C>A	p.=	p.A84A	ENST00000636911	1/2	408	343	65	373	371	2	strelka-varscan-mutect	SLC35G4,synonymous_variant,p.=,ENST00000636911,;SLC35G4,synonymous_variant,p.=,ENST00000588001,NM_001282300.1;	A	ENST00000636911	Transcript	synonymous_variant	373/1201	252/1017	84/338	A	gcC/gcA		1		1	SLC35G4	HGNC	HGNC:31043	protein_coding	YES		ENSP00000489773			UPI0001AE65E0				1/2		Superfamily_domains:0043518,hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32																	LOW	1	SNV				1										PASS		.	.												A	2	1	42	11609847	11609847	C	A	1	0	0	0	0	0	0	0	1	14868	610	22	2		2	SLC35G4	18	11609847	Silent	SNP	C	C3N-00203_TP	918551	11609847	68763438	409	12357											
ANKRD62	0	.	GRCh38	chr18	12097758	12097758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactgcagaagactacgctGttgcttctaagtttcaagcg	10	11	11	9	2	2	2	1	0	1	2	2	3	2	3	0	1	4	5	0	1	4	5	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.733G>A	p.Val245Ile	p.V245I	ENST00000587848	5/14	171	125	46	121	121	0	strelka-varscan-mutect	ANKRD62,missense_variant,p.Val245Ile,ENST00000587848,NM_001277333.1;RNU6-324P,upstream_gene_variant,,ENST00000363957,;ANKRD62,upstream_gene_variant,,ENST00000418274,;RP11-815J4.5,upstream_gene_variant,,ENST00000589352,;SDHDP1,downstream_gene_variant,,ENST00000588055,;	A	ENST00000587848	Transcript	missense_variant	898/2919	733/2754	245/917	V/I	Gtt/Att		1		1	ANKRD62	HGNC	HGNC:35241	protein_coding	YES	CCDS67439.1	ENSP00000467740	A6NC57		UPI0000DD848C	NM_001277333.1	tolerated(0.48)		5/14		PROSITE_profiles:PS50297,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF29,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	42	12097758	12097758	G	A	1	0	0	0	0	1	0	0	0	789	1377	48	3		3	ANKRD62	18	12097758	Missense_Mutation	SNP	G	C3N-00203_TP	487911	12097758	68275527	410	12358											
MYO5B	0	.	GRCh38	chr18	49929558	49929558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaatcgtctccaacacccCgcaggctctgagttgctgca	8	9	9	15	3	2	1	0	1	2	0	5	2	2	1	3	1	3	5	3	1	2	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.2044G>T	p.Gly682Trp	p.G682W	ENST00000285039	17/40	322	248	74	273	273	0	strelka-varscan-mutect	MYO5B,missense_variant,p.Gly682Trp,ENST00000285039,NM_001080467.2;	A	ENST00000285039	Transcript	missense_variant	2344/9505	2044/5547	682/1848	G/W	Ggg/Tgg		1		-1	MYO5B	HGNC	HGNC:7603	protein_coding	YES	CCDS42436.1	ENSP00000285039	Q9ULV0		UPI00001D7B21	NM_001080467.2	deleterious(0)		17/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1401138978	.												A	3	1	42	49929558	49929558	C	A	1	0	0	0	0	1	0	0	0	10080	652	23	1		1	MYO5B	18	49929558	Missense_Mutation	SNP	C	C3N-00203_TP	37831800	49929558	30443727	411	12359											
PLIN4	0	.	GRCh38	chr19	4510734	4510734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcagtctgctccccacCattgtctgtggtcctggaac	6	10	11	14	0	2	0	0	0	2	0	4	1	4	1	4	3	2	2	4	3	1	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.3184G>A	p.Gly1062Ser	p.G1062S	ENST00000301286	3/6	29	18	11	18	18	0	strelka-varscan-mutect	PLIN4,missense_variant,p.Gly1077Ser,ENST00000633942,;PLIN4,missense_variant,p.Gly1062Ser,ENST00000301286,NM_001080400.1;	T	ENST00000301286	Transcript	missense_variant	3184/6353	3184/4074	1062/1357	G/S	Ggt/Agt		1		-1	PLIN4	HGNC	HGNC:29393	protein_coding	YES	CCDS45927.1	ENSP00000301286	Q96Q06		UPI00001D822A	NM_001080400.1	tolerated(0.13)		3/6		hmmpanther:PTHR14024,hmmpanther:PTHR14024:SF31																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	42	4510734	4510734	C	T	1	0	0	0	0	1	0	0	0	12188	594	21	3		3	PLIN4	19	4510734	Missense_Mutation	SNP	C	C3N-00203_TP		4510734	54106882	412	12360											
CATSPERD	0	.	GRCh38	chr19	5771035	5771035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgggctgtcctctcctcGtctactatgacaccctatgg	6	12	9	14	1	2	1	0	1	2	0	5	1	3	1	3	2	2	2	3	2	3	3	rs374184519		C3N-00203_TP	C3N-00203_NB	G	G																c.1726G>T	p.Val576Phe	p.V576F	ENST00000381624	19/22	217	164	53	145	145	0	strelka-varscan-mutect	CATSPERD,missense_variant,p.Val576Phe,ENST00000381624,NM_152784.3;CATSPERD,non_coding_transcript_exon_variant,,ENST00000309164,;CATSPERD,upstream_gene_variant,,ENST00000448307,;	T	ENST00000381624	Transcript	missense_variant	1787/2516	1726/2397	576/798	V/F	Gtc/Ttc	rs374184519,COSM76755	1		1	CATSPERD	HGNC	HGNC:28598	protein_coding	YES	CCDS12149.2	ENSP00000371037	Q86XM0		UPI000059D641	NM_152784.3	deleterious(0)		19/22		Pfam_domain:PF15020,hmmpanther:PTHR33722,hmmpanther:PTHR33722:SF1											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs374184519	.												T	3	4	42	5771035	5771035	G	T	1	0	0	0	0	1	0	0	0	2392	1145	40	1		1	CATSPERD	19	5771035	Missense_Mutation	SNP	G	C3N-00203_TP	1260301	5771035	52846581	413	12361											
ADGRE1	0	.	GRCh38	chr19	6919603	6919603	+	Missense_Mutation	SNP	G	G	T																															atggaatcggttttaaatgaGcgcttcttcaaagaccacca																								novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1476G>T	p.Glu492Asp	p.E492D	ENST00000312053	13/21	290	240	50	289	288	1	strelka-varscan-mutect	ADGRE1,missense_variant,p.Glu492Asp,ENST00000312053,NM_001974.4;ADGRE1,missense_variant,p.Glu440Asp,ENST00000381404,NM_001256252.1;ADGRE1,missense_variant,p.Glu492Asp,ENST00000250572,NM_001256253.1;ADGRE1,missense_variant,p.Glu351Asp,ENST00000381407,NM_001256254.1;ADGRE1,missense_variant,p.Glu315Asp,ENST00000450315,NM_001256255.1;	T	ENST00000312053	Transcript	missense_variant	1513/3128	1476/2661	492/886	E/D	gaG/gaT		1		1	ADGRE1	HGNC	HGNC:3336	protein_coding	YES	CCDS12175.1	ENSP00000311545	Q14246		UPI0000203241	NM_001974.4	tolerated(0.17)		13/21		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF303																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	6919603	6919603	G	T	1	0	0	0	0	1	0	0	0	359	962	34	2		2	ADGRE1	19	6919603	Missense_Mutation	SNP	G	C3N-00203_TP	1148568	6919603	51698013	414	12362	280	2									
ADGRE1	0	.	GRCh38	chr19	6919604	6919604	+	Missense_Mutation	SNP	C	C	T																															tggaatcggttttaaatgagCgcttcttcaaagaccaccag																								rs144318055		C3N-00203_TP	C3N-00203_NB	C	C																c.1477C>T	p.Arg493Cys	p.R493C	ENST00000312053	13/21	294	244	50	290	290	0	strelka-varscan-mutect	ADGRE1,missense_variant,p.Arg493Cys,ENST00000312053,NM_001974.4;ADGRE1,missense_variant,p.Arg441Cys,ENST00000381404,NM_001256252.1;ADGRE1,missense_variant,p.Arg493Cys,ENST00000250572,NM_001256253.1;ADGRE1,missense_variant,p.Arg352Cys,ENST00000381407,NM_001256254.1;ADGRE1,missense_variant,p.Arg316Cys,ENST00000450315,NM_001256255.1;	T	ENST00000312053	Transcript	missense_variant	1514/3128	1477/2661	493/886	R/C	Cgc/Tgc	rs144318055	1		1	ADGRE1	HGNC	HGNC:3336	protein_coding	YES	CCDS12175.1	ENSP00000311545	Q14246		UPI0000203241	NM_001974.4	deleterious(0.01)		13/21		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF303																	MODERATE	1	SNV	1			1										PASS		rs144318055	.												T	3	4	42	6919604	6919604	C	T	1	0	0	0	0	1	0	0	0	359	768	27	1		1	ADGRE1	19	6919604	Missense_Mutation	SNP	C	C3N-00203_TP	1	6919604	51698012	415	12363	280	2									
MUC16	0	.	GRCh38	chr19	8891929	8891929	+	Missense_Mutation	SNP	G	G	T																															gccgctctctgtccagtccaGggcttttggggtcaggacga																								novel		C3N-00203_TP	C3N-00203_NB	G	G																c.40211C>A	p.Pro13404His	p.P13404H	ENST00000397910	51/84	191	162	29	155	155	0	strelka-varscan-mutect	MUC16,missense_variant,p.Pro13404His,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Pro244His,ENST00000599436,;MUC16,missense_variant,p.Pro244His,ENST00000601404,;MUC16,missense_variant,p.Pro24His,ENST00000596768,;	T	ENST00000397910	Transcript	missense_variant	40415/43816	40211/43524	13404/14507	P/H	cCt/cAt		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			51/84		PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Gene3D:1ivzA00,Pfam_domain:PF01390,Superfamily_domains:0047452																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	42	8891929	8891929	G	T	1	0	0	0	0	1	0	0	0	9972	1000	35	2		2	MUC16	19	8891929	Missense_Mutation	SNP	G	C3N-00203_TP	1972325	8891929	49725687	416	12364	281	2									
MUC16	0	.	GRCh38	chr19	8891930	8891930	+	Missense_Mutation	SNP	G	G	T																															ccgctctctgtccagtccagGgcttttggggtcaggacgat																								novel		C3N-00203_TP	C3N-00203_NB	G	G																c.40210C>A	p.Pro13404Thr	p.P13404T	ENST00000397910	51/84	192	164	28	156	156	0	strelka-varscan-mutect	MUC16,missense_variant,p.Pro13404Thr,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Pro244Thr,ENST00000599436,;MUC16,missense_variant,p.Pro244Thr,ENST00000601404,;MUC16,missense_variant,p.Pro24Thr,ENST00000596768,;	T	ENST00000397910	Transcript	missense_variant	40414/43816	40210/43524	13404/14507	P/T	Cct/Act		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			51/84		PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Gene3D:1ivzA00,Pfam_domain:PF01390,Superfamily_domains:0047452																	MODERATE	1	SNV	5			1										PASS		rs1159026289	.												T	3	4	42	8891930	8891930	G	T	1	0	0	0	0	1	0	0	0	9972	1232	43	2		2	MUC16	19	8891930	Missense_Mutation	SNP	G	C3N-00203_TP	1	8891930	49725686	417	12365	281	2									
ZNF426	0	.	GRCh38	chr19	9533905	9533905	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcttctctgagttgagTccagtaaagtccactcctcc	9	11	9	12	0	1	3	0	2	1	1	6	3	5	3	4	1	0	3	4	1	2	3	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.179A>T	p.Asp60Val	p.D60V	ENST00000253115	5/8	257	181	76	177	177	0	strelka-varscan-mutect	ZNF426,missense_variant,p.Asp60Val,ENST00000253115,NM_001318055.1,NM_001318056.1,NM_024106.1;ZNF426,missense_variant,p.Asp22Val,ENST00000593003,NM_001300883.1;ZNF426,missense_variant,p.Asp60Val,ENST00000535489,;ZNF426,missense_variant,p.Asp60Val,ENST00000589289,;CTC-543D15.8,upstream_gene_variant,,ENST00000619671,;CTC-543D15.8,upstream_gene_variant,,ENST00000613560,;ZNF426,intron_variant,,ENST00000635810,;	A	ENST00000253115	Transcript	missense_variant	443/7085	179/1665	60/554	D/V	gAc/gTc		1		-1	ZNF426	HGNC	HGNC:20725	protein_coding	YES	CCDS12215.1	ENSP00000253115	Q9BUY5	A0A024R7D7	UPI0000072122	NM_001318055.1,NM_001318056.1,NM_024106.1	deleterious(0)		5/8		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF85,SMART_domains:SM00349																	MODERATE	1	SNV	1			1										PASS		rs1311729034	.												A	3	1	42	9533905	9533905	T	A	1	0	0	0	0	1	0	0	0	18472	1667	58	4		4	ZNF426	19	9533905	Missense_Mutation	SNP	T	C3N-00203_TP	641975	9533905	49083711	418	12366											
RNASEH2A	0	.	GRCh38	chr19	12810387	12810387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacttggatactgattatgGctcaggctaccccaatggtg	9	11	12	9	0	1	1	1	1	0	0	1	3	1	3	2	5	2	2	2	5	4	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.620G>T	p.Gly207Val	p.G207V	ENST00000221486	6/8	650	509	141	483	481	2	strelka-varscan-mutect	RNASEH2A,missense_variant,p.Gly207Val,ENST00000221486,NM_006397.2;HOOK2,intron_variant,,ENST00000589765,;RNASEH2A,non_coding_transcript_exon_variant,,ENST00000593017,;RNASEH2A,downstream_gene_variant,,ENST00000590121,;RNASEH2A,downstream_gene_variant,,ENST00000590279,;	T	ENST00000221486	Transcript	missense_variant	714/1165	620/900	207/299	G/V	gGc/gTc		1		1	RNASEH2A	HGNC	HGNC:18518	protein_coding	YES	CCDS12282.1	ENSP00000221486	O75792		UPI00001343E6	NM_006397.2	deleterious(0)		6/8		hmmpanther:PTHR10954,hmmpanther:PTHR10954:SF7,Gene3D:1.10.10.460,Pfam_domain:PF01351,TIGRFAM_domain:TIGR00729,Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	12810387	12810387	G	T	1	0	0	0	0	1	0	0	0	13591	1203	42	2		2	RNASEH2A	19	12810387	Missense_Mutation	SNP	G	C3N-00203_TP	3276482	12810387	45807229	419	12367											
CACNA1A	0	.	GRCh38	chr19	13208878	13208880	+	In_Frame_Del	DEL	GAT	GAT	-																															gtccttgtcggggggcggggGatggtggtggtggtggtggt																								rs749638821		C3N-00203_TP	C3N-00203_NB	GAT	GAT																c.6656_6658delATC	p.His2219del	p.H2219del	ENST00000360228	46/47	103	97	6	111	110	1	varindel-pindel	CACNA1A,inframe_deletion,p.His2220del,ENST00000638009,NM_001127221.1;CACNA1A,inframe_deletion,p.His2220del,ENST00000635895,;CACNA1A,inframe_deletion,p.His2220del,ENST00000637769,;CACNA1A,inframe_deletion,p.His2219del,ENST00000360228,NM_001127222.1;CACNA1A,inframe_deletion,p.His2225del,ENST00000614285,;CACNA1A,inframe_deletion,p.His2173del,ENST00000637736,;CACNA1A,inframe_deletion,p.His2220del,ENST00000636389,;CACNA1A,inframe_deletion,p.His2225del,ENST00000638029,NM_023035.2;CACNA1A,inframe_deletion,p.His2225del,ENST00000637432,NM_000068.3;CACNA1A,inframe_deletion,p.His2221del,ENST00000573710,;CACNA1A,inframe_deletion,p.His2220del,ENST00000635727,;CACNA1A,inframe_deletion,p.His2208del,ENST00000636012,;CACNA1A,inframe_deletion,p.His2208del,ENST00000637276,;CACNA1A,inframe_deletion,p.His2221del,ENST00000637927,;CACNA1A,inframe_deletion,p.His2222del,ENST00000636549,NM_001174080.1;CACNA1A,inframe_deletion,p.His694del,ENST00000587525,;CACNA1A,inframe_deletion,p.His594del,ENST00000585802,;CACNA1A,inframe_deletion,p.His509del,ENST00000636473,;CACNA1A,downstream_gene_variant,,ENST00000637819,;CACNA1A,downstream_gene_variant,,ENST00000636610,;CACNA1A,downstream_gene_variant,,ENST00000635988,;CACNA1A,downstream_gene_variant,,ENST00000636074,;CACNA1A,downstream_gene_variant,,ENST00000636768,;CACNA1A,downstream_gene_variant,,ENST00000638114,;	-	ENST00000360228	Transcript	inframe_deletion	6891-6893/8627	6656-6658/7521	2219-2220/2506	HP/P	cATCcc/ccc	rs749638821,COSM1390728,COSM1390729,COSM1390730,COSM1390731	1		-1	CACNA1A	HGNC	HGNC:1388	protein_coding	YES	CCDS45998.1	ENSP00000353362	O00555		UPI0000141565	NM_001127222.1			46/47		Low_complexity_(Seg):seg,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59											0,1,1,1,1						MODERATE	1	deletion	1		0,1,1,1,1	1										PASS		.	.												-	7	5	42	13208878	13208878	GAT	-	1	0	1	0	1	0	0	0	0	2226	1174	41	0		0	CACNA1A	19	13208878	In_Frame_Del	DEL	GAT	C3N-00203_TP	398491	13208878	45408738	420	12368											
CILP2	0	.	GRCh38	chr19	19544877	19544877	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgccaacccccgtgccTggggccgctttgacagcgcg	4	7	12	18	5	1	1	0	1	1	0	2	1	1	1	6	2	3	1	6	2	1	1	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.2332T>A	p.Trp778Arg	p.W778R	ENST00000291495	8/8	119	87	32	85	85	0	strelka-varscan-mutect	CILP2,missense_variant,p.Trp784Arg,ENST00000586018,;CILP2,missense_variant,p.Trp778Arg,ENST00000291495,NM_153221.2;CILP2,downstream_gene_variant,,ENST00000588333,;	A	ENST00000291495	Transcript	missense_variant	2417/4199	2332/3471	778/1156	W/R	Tgg/Agg		1		1	CILP2	HGNC	HGNC:24213	protein_coding	YES	CCDS12405.1	ENSP00000291495	Q8IUL8		UPI000013E04D	NM_153221.2	deleterious(0)		8/8		hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF0																	MODERATE	1	SNV	1			1										PASS		rs762645493	.												A	3	1	42	19544877	19544877	T	A	1	0	0	0	0	1	0	0	0	3192	1580	55	4		4	CILP2	19	19544877	Missense_Mutation	SNP	T	C3N-00203_TP	6335999	19544877	39072739	421	12369											
ZNF493	0	.	GRCh38	chr19	21423806	21423806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacaaatgtgaagaatgtGgcaaagcctttagtattttc	13	13	8	7	0	0	2	0	1	0	1	1	2	0	2	2	1	2	2	2	1	7	6	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1147G>T	p.Gly383Cys	p.G383C	ENST00000392288	4/4	261	214	47	286	286	0	strelka-varscan-mutect	ZNF493,missense_variant,p.Gly383Cys,ENST00000392288,NM_001076678.2;ZNF493,missense_variant,p.Gly255Cys,ENST00000355504,NM_175910.6;ZNF493,downstream_gene_variant,,ENST00000596302,;CTD-2561J22.3,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,;	T	ENST00000392288	Transcript	missense_variant	1256/5023	1147/2325	383/774	G/C	Ggc/Tgc		1		1	ZNF493	HGNC	HGNC:23708	protein_coding	YES	CCDS42536.1	ENSP00000376110	Q6ZR52		UPI000022ABBF	NM_001076678.2	deleterious(0)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF247,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	21423806	21423806	G	T	1	0	0	0	0	1	0	0	0	18517	1348	47	2		2	ZNF493	19	21423806	Missense_Mutation	SNP	G	C3N-00203_TP	1878929	21423806	37193810	422	12370											
MAG	0	.	GRCh38	chr19	35299831	35299831	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctgcagttcgagggctaCgccagcatggacgtcaagtg	9	7	13	12	3	1	0	1	0	0	0	2	2	1	1	2	2	3	4	2	2	2	2	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.693C>A	p.Tyr231Ter	p.Y231*	ENST00000392213	5/11	84	46	38	43	43	0	strelka-varscan-mutect	MAG,stop_gained,p.Tyr231Ter,ENST00000361922,NM_080600.2;MAG,stop_gained,p.Tyr231Ter,ENST00000392213,NM_002361.3;MAG,stop_gained,p.Tyr206Ter,ENST00000537831,NM_001199216.1;MAG,downstream_gene_variant,,ENST00000595791,;MAG,downstream_gene_variant,,ENST00000600291,;MAG,downstream_gene_variant,,ENST00000597035,;	A	ENST00000392213	Transcript	stop_gained	852/2390	693/1881	231/626	Y/*	taC/taA		1		1	MAG	HGNC	HGNC:6783	protein_coding	YES	CCDS12455.1	ENSP00000376048	P20916		UPI000012EB2F	NM_002361.3			5/11		Gene3D:2.60.40.10,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF54,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	42	35299831	35299831	C	A	1	0	0	0	0	0	1	0	0	9078	547	19	1		1	MAG	19	35299831	Nonsense_Mutation	SNP	C	C3N-00203_TP	13876025	35299831	23317785	423	12371											
DMKN	0	.	GRCh38	chr19	35513317	35513317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcctctttgccaatggcCtttcccaccccttcgctcag	4	11	7	19	2	2	0	1	0	1	0	4	0	3	0	7	2	1	1	7	2	1	3	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.159G>T	p.Lys53Asn	p.K53N	ENST00000339686	1/16	705	372	333	363	363	0	strelka-varscan-mutect	DMKN,missense_variant,p.Lys53Asn,ENST00000339686,NM_033317.4;DMKN,missense_variant,p.Lys53Asn,ENST00000447113,NM_001190348.1;DMKN,missense_variant,p.Lys53Asn,ENST00000419602,NM_001126056.2;DMKN,missense_variant,p.Lys53Asn,ENST00000429837,NM_001190347.1;DMKN,missense_variant,p.Lys53Asn,ENST00000424570,NM_001126057.2;DMKN,missense_variant,p.Lys53Asn,ENST00000418261,NM_001126058.2;DMKN,missense_variant,p.Lys53Asn,ENST00000451297,NM_001190349.1;DMKN,upstream_gene_variant,,ENST00000402589,NM_001308380.1;DMKN,upstream_gene_variant,,ENST00000434389,;DMKN,upstream_gene_variant,,ENST00000414866,NM_001126059.2;DMKN,upstream_gene_variant,,ENST00000436012,NM_001308383.1;DMKN,upstream_gene_variant,,ENST00000443640,;DMKN,upstream_gene_variant,,ENST00000467637,;DMKN,upstream_gene_variant,,ENST00000602781,;DMKN,upstream_gene_variant,,ENST00000480502,;DMKN,upstream_gene_variant,,ENST00000492341,;DMKN,upstream_gene_variant,,ENST00000472252,;DMKN,upstream_gene_variant,,ENST00000474928,;DMKN,upstream_gene_variant,,ENST00000461300,;DMKN,upstream_gene_variant,,ENST00000602679,;DMKN,upstream_gene_variant,,ENST00000458071,;DMKN,upstream_gene_variant,,ENST00000392206,;DMKN,upstream_gene_variant,,ENST00000488892,;DMKN,upstream_gene_variant,,ENST00000450261,;DMKN,upstream_gene_variant,,ENST00000462126,;DMKN,upstream_gene_variant,,ENST00000476051,;DMKN,upstream_gene_variant,,ENST00000474992,;DMKN,upstream_gene_variant,,ENST00000489395,;DMKN,upstream_gene_variant,,ENST00000490622,;DMKN,upstream_gene_variant,,ENST00000488542,;DMKN,upstream_gene_variant,,ENST00000462721,;DMKN,upstream_gene_variant,,ENST00000465927,;DMKN,upstream_gene_variant,,ENST00000467532,;DMKN,upstream_gene_variant,,ENST00000482321,;DMKN,upstream_gene_variant,,ENST00000464709,;DMKN,upstream_gene_variant,,ENST00000464894,;DMKN,upstream_gene_variant,,ENST00000471786,;DMKN,upstream_gene_variant,,ENST00000476246,;DMKN,upstream_gene_variant,,ENST00000488762,;DMKN,upstream_gene_variant,,ENST00000498211,;DMKN,upstream_gene_variant,,ENST00000493979,;DMKN,upstream_gene_variant,,ENST00000463292,;DMKN,upstream_gene_variant,,ENST00000597212,;DMKN,upstream_gene_variant,,ENST00000460051,;DMKN,upstream_gene_variant,,ENST00000498593,;DMKN,upstream_gene_variant,,ENST00000483855,;DMKN,upstream_gene_variant,,ENST00000486450,;DMKN,upstream_gene_variant,,ENST00000462538,;DMKN,upstream_gene_variant,,ENST00000470857,;DMKN,upstream_gene_variant,,ENST00000493517,;DMKN,upstream_gene_variant,,ENST00000480507,;DMKN,upstream_gene_variant,,ENST00000472065,;DMKN,upstream_gene_variant,,ENST00000498269,;DMKN,upstream_gene_variant,,ENST00000470746,;DMKN,upstream_gene_variant,,ENST00000595571,;	A	ENST00000339686	Transcript	missense_variant	336/1927	159/1431	53/476	K/N	aaG/aaT		1		-1	DMKN	HGNC	HGNC:25063	protein_coding	YES	CCDS12463.1	ENSP00000342012	Q6E0U4		UPI00002020EB	NM_033317.4	tolerated(0.08)		1/16		hmmpanther:PTHR36881,hmmpanther:PTHR36881:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	35513317	35513317	C	A	1	0	0	0	0	1	0	0	0	4389	680	24	2		2	DMKN	19	35513317	Missense_Mutation	SNP	C	C3N-00203_TP	213486	35513317	23104299	424	12372											
HSPB6	0	.	GRCh38	chr19	35755669	35755669	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtggaactcgcgcgcgacGaatccgtgctcatcctggag	7	7	14	13	7	1	0	1	0	0	0	4	4	3	2	2	3	2	1	2	3	2	0	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.336C>T	p.=	p.F112F	ENST00000592984	4/4	164	136	28	116	116	0	strelka-varscan-mutect	HSPB6,synonymous_variant,p.=,ENST00000592984,;HSPB6,synonymous_variant,p.=,ENST00000004982,NM_144617.2;HSPB6,3_prime_UTR_variant,,ENST00000587965,;PROSER3,upstream_gene_variant,,ENST00000396908,NM_001039887.2;PROSER3,upstream_gene_variant,,ENST00000536950,;LIN37,downstream_gene_variant,,ENST00000301159,NM_019104.2;PROSER3,upstream_gene_variant,,ENST00000301165,;PROSER3,upstream_gene_variant,,ENST00000537459,;PROSER3,upstream_gene_variant,,ENST00000421853,;PROSER3,upstream_gene_variant,,ENST00000545674,;PROSER3,upstream_gene_variant,,ENST00000444637,;LIN37,downstream_gene_variant,,ENST00000591163,;PROSER3,upstream_gene_variant,,ENST00000542134,;LIN37,downstream_gene_variant,,ENST00000587751,;AC002398.11,upstream_gene_variant,,ENST00000591091,;AC002398.12,downstream_gene_variant,,ENST00000587767,;PROSER3,upstream_gene_variant,,ENST00000544876,;LIN37,downstream_gene_variant,,ENST00000591076,;PROSER3,upstream_gene_variant,,ENST00000620918,;PROSER3,upstream_gene_variant,,ENST00000600988,;LIN37,downstream_gene_variant,,ENST00000595455,;LIN37,downstream_gene_variant,,ENST00000587108,;LIN37,downstream_gene_variant,,ENST00000590706,;AC002398.9,downstream_gene_variant,,ENST00000591613,;PROSER3,upstream_gene_variant,,ENST00000601095,;LIN37,downstream_gene_variant,,ENST00000590890,;LIN37,downstream_gene_variant,,ENST00000592871,;PROSER3,upstream_gene_variant,,ENST00000539771,;	A	ENST00000592984	Transcript	synonymous_variant	533/1634	336/483	112/160	F	ttC/ttT		1		-1	HSPB6	HGNC	HGNC:26511	protein_coding	YES	CCDS12475.1	ENSP00000468057	O14558	V9HWB6	UPI000012CCD5				4/4		Gene3D:2.60.40.790,Pfam_domain:PF00011,Prints_domain:PR00299,PROSITE_profiles:PS01031,hmmpanther:PTHR11527,hmmpanther:PTHR11527:SF109,Superfamily_domains:SSF49764																	LOW		SNV	4			1										PASS		.	.												A	2	1	42	35755669	35755669	G	A	1	0	0	0	0	0	0	0	1	7318	1049	37	1		1	HSPB6	19	35755669	Silent	SNP	G	C3N-00203_TP	242352	35755669	22861947	425	12373											
ZNF573	0	.	GRCh38	chr19	37739107	37739107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaccagtgtgaatattCtgatgtcgagtaagatttct	10	17	8	6	1	3	3	0	2	3	1	4	4	3	3	1	0	1	1	1	0	4	6	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1383G>T	p.Gln461His	p.Q461H	ENST00000536220	5/5	206	168	38	165	164	1	strelka-varscan-mutect	ZNF573,missense_variant,p.Gln374His,ENST00000392138,;ZNF573,missense_variant,p.Gln461His,ENST00000536220,NM_001172691.1,NM_001172690.1;ZNF573,missense_variant,p.Gln461His,ENST00000590414,;ZNF573,missense_variant,p.Gln373His,ENST00000357309,NM_001172692.1,NM_001172689.1;ZNF573,missense_variant,p.Gln403His,ENST00000339503,NM_152360.3;ZNF573,downstream_gene_variant,,ENST00000378445,;ZNF573,downstream_gene_variant,,ENST00000585724,;ZNF573,intron_variant,,ENST00000590674,;ZNF573,3_prime_UTR_variant,,ENST00000589632,;ZNF573,3_prime_UTR_variant,,ENST00000586155,;ZNF573,downstream_gene_variant,,ENST00000489148,;ZNF573,downstream_gene_variant,,ENST00000591516,;	A	ENST00000536220	Transcript	missense_variant	1452/2257	1383/1998	461/665	Q/H	caG/caT		1		-1	ZNF573	HGNC	HGNC:26420	protein_coding	YES	CCDS59381.1	ENSP00000440464	Q86YE8		UPI000059D70C	NM_001172691.1,NM_001172690.1	tolerated(0.1)		5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF159,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	42	37739107	37739107	C	A	1	0	0	0	0	1	0	0	0	18579	912	32	2		2	ZNF573	19	37739107	Missense_Mutation	SNP	C	C3N-00203_TP	1983438	37739107	20878509	426	12374											
RYR1	0	.	GRCh38	chr19	38494484	38494484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgggtgagctgctgcGtgccctgccgcgggcgtaca	3	7	18	13	5	0	1	0	1	0	0	0	1	0	1	2	3	6	4	2	3	1	1	rs530885842		C3N-00203_TP	C3N-00203_NB	G	G																c.6407G>T	p.Arg2136Leu	p.R2136L	ENST00000359596	39/106	550	408	142	424	424	0	strelka-varscan-mutect	RYR1,missense_variant,p.Arg2136Leu,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Arg2136Leu,ENST00000359596,NM_000540.2;RYR1,upstream_gene_variant,,ENST00000594335,;	T	ENST00000359596	Transcript	missense_variant	6407/15117	6407/15117	2136/5038	R/L	cGt/cTt	rs530885842	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2	deleterious(0.02)		39/106		hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715																	MODERATE	1	SNV	5			1										PASS		rs530885842	.												T	3	4	42	38494484	38494484	G	T	1	0	0	0	0	1	0	0	0	14028	1145	40	1		1	RYR1	19	38494484	Missense_Mutation	SNP	G	C3N-00203_TP	755377	38494484	20123132	427	12375											
DLL3	0	.	GRCh38	chr19	39507223	39507223	+	Frame_Shift_Del	DEL	C	C	-																															ggcttcggcggccgcgactgCcgcgagcgcgcggacccgtg																								novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1279delC	p.Arg427AlafsTer121	p.R427Afs*121	ENST00000205143	7/8	90	61	29	124	124	0	sindel-varindel-pindel	DLL3,frameshift_variant,p.Arg427AlafsTer121,ENST00000205143,NM_016941.3;DLL3,frameshift_variant,p.Arg427AlafsTer121,ENST00000356433,NM_203486.2;DLL3,frameshift_variant,p.Arg199AlafsTer?,ENST00000596614,;DLL3,downstream_gene_variant,,ENST00000600437,;	-	ENST00000205143	Transcript	frameshift_variant	1285/2332	1278/1857	426/618	C/X	tgC/tg		1		1	DLL3	HGNC	HGNC:2909	protein_coding	YES	CCDS12538.1	ENSP00000205143	Q9NYJ7		UPI0000051041	NM_016941.3			7/8		PROSITE_profiles:PS50026,hmmpanther:PTHR24044:SF308,hmmpanther:PTHR24044,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	42	39507223	39507223	C	-	1	0	1	0	1	0	0	0	0	4374	747	26	0		0	DLL3	19	39507223	Frame_Shift_Del	DEL	C	C3N-00203_TP	1012739	39507223	19110393	428	12376											
SPTBN4	0	.	GRCh38	chr19	40557056	40557056	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aattctcagagtttgccagcGagacaggtatggcagggcgg	10	8	15	8	2	1	2	1	0	1	2	2	3	1	2	1	4	2	3	1	4	2	3	rs769990152		C3N-00203_TP	C3N-00203_NB	G	G																c.5323G>C	p.Glu1775Gln	p.E1775Q	ENST00000352632	26/36	56	43	13	34	34	0	strelka-varscan-mutect	SPTBN4,missense_variant,p.Glu1775Gln,ENST00000338932,;SPTBN4,missense_variant,p.Glu1775Gln,ENST00000352632,;SPTBN4,missense_variant,p.Glu1775Gln,ENST00000392025,;SPTBN4,missense_variant,p.Glu1775Gln,ENST00000598249,NM_020971.2;SPTBN4,missense_variant,p.Glu1775Gln,ENST00000595535,;SPTBN4,missense_variant,p.Glu451Gln,ENST00000392023,NM_025213.2;SPTBN4,3_prime_UTR_variant,,ENST00000597389,;SPTBN4,downstream_gene_variant,,ENST00000596900,;	C	ENST00000352632	Transcript	missense_variant	5409/8676	5323/7695	1775/2564	E/Q	Gag/Cag	rs769990152	1		1	SPTBN4	HGNC	HGNC:14896	protein_coding	YES	CCDS12559.1	ENSP00000263373	Q9H254		UPI0000135DBB		deleterious(0)		26/36		Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF232,SMART_domains:SM00150																	MODERATE	1	SNV	5			1										PASS		rs769990152	.												C	3	2	42	40557056	40557056	G	C	1	0	0	0	0	1	0	0	0	15477	1059	37	4		4	SPTBN4	19	40557056	Missense_Mutation	SNP	G	C3N-00203_TP	1049833	40557056	18060560	429	12377											
TEX101	0	.	GRCh38	chr19	43416101	43416101	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcttgttttctcctcagcgGgcctagagctgtattgtcaa	6	16	9	10	1	4	1	2	0	2	1	5	1	4	1	2	1	2	3	2	1	3	7	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.121G>C	p.Gly41Arg	p.G41R	ENST00000602198	5/8	94	75	19	70	70	0	strelka-varscan-mutect	TEX101,missense_variant,p.Gly41Arg,ENST00000602198,NM_031451.4;TEX101,missense_variant,p.Gly23Arg,ENST00000598265,NM_001130011.1;TEX101,splice_region_variant,,ENST00000601707,;	C	ENST00000602198	Transcript	missense_variant,splice_region_variant	563/1446	121/804	41/267	G/R	Ggc/Cgc		1		1	TEX101	HGNC	HGNC:30722	protein_coding	YES	CCDS12619.1	ENSP00000472308	Q9BY14	A0A024R0T7	UPI000013CDD3	NM_031451.4	tolerated(0.15)		5/8		hmmpanther:PTHR16529,hmmpanther:PTHR16529:SF3,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	42	43416101	43416101	G	C	1	0	0	0	0	1	0	0	0	16194	1246	43	4		4	TEX101	19	43416101	Missense_Mutation	SNP	G	C3N-00203_TP	2859045	43416101	15201515	430	12378											
DACT3	0	.	GRCh38	chr19	46649469	46649469	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaacgagggctcccgcgcGggtcgcgcgctgccggggga	4	4	18	15	8	0	0	0	0	0	0	3	2	2	1	3	4	2	2	3	4	1	0	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.903C>T	p.=	p.P301P	ENST00000391916	4/4	25	21	4	37	37	0	strelka-mutect	DACT3,synonymous_variant,p.=,ENST00000391916,NM_145056.2;DACT3,synonymous_variant,p.=,ENST00000300875,NM_001301046.1;DACT3,downstream_gene_variant,,ENST00000410105,;	A	ENST00000391916	Transcript	synonymous_variant	977/2834	903/1890	301/629	P	ccC/ccT		1		-1	DACT3	HGNC	HGNC:30745	protein_coding	YES	CCDS12688.2	ENSP00000375783	Q96B18		UPI0000202707	NM_145056.2			4/4		hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF1																	LOW	1	SNV	5			1										PASS		rs1263070754	.												A	2	1	42	46649469	46649469	G	A	1	0	0	0	0	0	0	0	1	4025	1103	39	1		1	DACT3	19	46649469	Silent	SNP	G	C3N-00203_TP	3233368	46649469	11968147	431	12379											
SIGLEC12	0	.	GRCh38	chr19	51501360	51501360	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattccatttcatatttcctCtctctacacaaaagacgtat	13	15	2	11	1	3	1	1	0	2	1	6	1	5	1	2	0	1	1	2	0	6	6	rs762995704		C3N-00203_TP	C3N-00203_NB	C	C																c.374G>T	p.Arg125Ile	p.R125I	ENST00000291707	1/8	195	137	58	224	224	0	strelka-varscan-mutect	SIGLEC12,missense_variant,p.Arg125Ile,ENST00000291707,NM_053003.3;SIGLEC12,upstream_gene_variant,,ENST00000598614,NM_033329.2;SIGLEC12,missense_variant,p.Arg125Ile,ENST00000596742,;CTD-3073N11.7,downstream_gene_variant,,ENST00000594712,;	A	ENST00000291707	Transcript	missense_variant	430/2121	374/1788	125/595	R/I	aGa/aTa	rs762995704	1		-1	SIGLEC12	HGNC	HGNC:15482	protein_coding	YES	CCDS12833.1	ENSP00000291707	Q96PQ1		UPI0000135992	NM_053003.3	deleterious(0)		1/8		PROSITE_profiles:PS50835,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs762995704	.												A	3	1	42	51501360	51501360	C	A	1	0	0	0	0	1	0	0	0	14572	913	32	2		2	SIGLEC12	19	51501360	Missense_Mutation	SNP	C	C3N-00203_TP	4851891	51501360	7116256	432	12380											
PRKCG	0	.	GRCh38	chr19	53892644	53892644	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggcgcccgtggatggctgGtgaggagcagggctggggcc	6	5	21	9	2	0	1	0	1	0	0	0	3	0	3	2	8	1	3	2	8	1	0	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.821+1G>T		p.X274_splice	ENST00000263431		63	45	18	81	81	0	strelka-varscan-mutect	PRKCG,splice_donor_variant,,ENST00000263431,NM_002739.3;PRKCG,downstream_gene_variant,,ENST00000474397,;PRKCG,downstream_gene_variant,,ENST00000479081,;PRKCG,downstream_gene_variant,,ENST00000419486,;	T	ENST00000263431	Transcript	splice_donor_variant	-/3133	821/2094	274/697				1		1	PRKCG	HGNC	HGNC:9402	protein_coding	YES	CCDS12867.1	ENSP00000263431	P05129		UPI000000DC69	NM_002739.3				7/17																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	42	53892644	53892644	G	T	1	0	0	0	0	0	0	1	0	12645	1275	44	2		2	PRKCG	19	53892644	Splice_Site	SNP	G	C3N-00203_TP	2391284	53892644	4724972	433	12381											
KIR2DL3	0	.	GRCh38	chr19	54751690	54751690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctgattgggacctcagtgGtcatcatcctcttcatcctc	6	15	7	13	0	6	1	4	1	2	0	9	2	8	2	3	2	0	0	3	2	0	3	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.757G>A	p.Val253Ile	p.V253I	ENST00000342376	6/8	362	263	99	423	423	0	strelka-varscan-mutect	KIR2DL3,missense_variant,p.Val253Ile,ENST00000342376,NM_015868.2;CTB-61M7.1,intron_variant,,ENST00000400864,;KIR2DP1,upstream_gene_variant,,ENST00000415311,;	A	ENST00000342376	Transcript	missense_variant	788/1590	757/1026	253/341	V/I	Gtc/Atc		1		1	KIR2DL3	HGNC	HGNC:6331	protein_coding	YES	CCDS33107.1	ENSP00000342215	P43628	E3NZD8	UPI000012DB1C	NM_015868.2	deleterious(0.03)		6/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR11738:SF119,hmmpanther:PTHR11738																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	54751690	54751690	G	A	1	0	0	0	0	1	0	0	0	8182	1261	44	3		3	KIR2DL3	19	54751690	Missense_Mutation	SNP	G	C3N-00203_TP	859046	54751690	3865926	434	12382											
NLRP7	0	.	GRCh38	chr19	54939971	54939971	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttcagcaaactccccAggaggacgggcaccggcttc	8	7	10	16	2	2	0	1	0	1	0	5	2	4	2	4	4	2	3	4	4	1	2	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.848T>C	p.Leu283Pro	p.L283P	ENST00000588756	6/13	311	234	77	326	326	0	strelka-varscan-mutect	NLRP7,missense_variant,p.Leu283Pro,ENST00000588756,;NLRP7,missense_variant,p.Leu283Pro,ENST00000328092,NM_139176.3;NLRP7,missense_variant,p.Leu283Pro,ENST00000592784,NM_001127255.1;NLRP7,missense_variant,p.Leu283Pro,ENST00000340844,NM_206828.3;NLRP7,missense_variant,p.Leu283Pro,ENST00000590030,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,missense_variant,p.Leu283Pro,ENST00000586379,;	G	ENST00000588756	Transcript	missense_variant	1335/3826	848/3114	283/1037	L/P	cTg/cCg		1		-1	NLRP7	HGNC	HGNC:22947	protein_coding	YES	CCDS46183.1	ENSP00000467123	Q8WX94		UPI000174C6C4		deleterious(0)		6/13		PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF14,Pfam_domain:PF05729																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	42	54939971	54939971	A	G	1	0	0	0	0	1	0	0	0	10520	188	7	5		5	NLRP7	19	54939971	Missense_Mutation	SNP	A	C3N-00203_TP	188281	54939971	3677645	435	12383											
TNNT1	0	.	GRCh38	chr19	55138026	55138026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctttttcttggcatcatCctctgcccgcttcttggcct	2	18	6	15	1	5	0	1	0	4	0	6	0	6	0	3	2	1	2	3	2	0	6	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.436G>A	p.Asp146Asn	p.D146N	ENST00000588981	10/14	578	429	149	587	587	0	strelka-varscan-mutect	TNNT1,missense_variant,p.Asp146Asn,ENST00000588981,NM_003283.5;TNNT1,missense_variant,p.Asp76Asn,ENST00000587465,;TNNT1,missense_variant,p.Asp135Asn,ENST00000587758,NM_001291774.1;TNNT1,missense_variant,p.Asp76Asn,ENST00000585321,;TNNT1,missense_variant,p.Asp146Asn,ENST00000291901,NM_001126132.2;TNNT1,missense_variant,p.Asp135Asn,ENST00000356783,NM_001126133.2;TNNT1,missense_variant,p.Asp76Asn,ENST00000536926,;TNNT1,missense_variant,p.Asp146Asn,ENST00000593046,;TNNT1,missense_variant,p.Asp94Asn,ENST00000593194,;TNNT1,missense_variant,p.Asp43Asn,ENST00000588426,;TNNT1,missense_variant,p.Asp135Asn,ENST00000589226,;TNNT1,missense_variant,p.Asp31Asn,ENST00000589745,;TNNT1,missense_variant,p.Asp142Asn,ENST00000588147,;TNNT1,upstream_gene_variant,,ENST00000586649,;TNNT1,non_coding_transcript_exon_variant,,ENST00000592920,;TNNT1,3_prime_UTR_variant,,ENST00000587089,;	T	ENST00000588981	Transcript	missense_variant	641/1163	436/837	146/278	D/N	Gat/Aat		1		-1	TNNT1	HGNC	HGNC:11948	protein_coding	YES	CCDS12917.1	ENSP00000467176	P13805		UPI000016A37B	NM_003283.5	deleterious(0)		10/14		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11521,hmmpanther:PTHR11521:SF6,Pfam_domain:PF00992																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	55138026	55138026	C	T	1	0	0	0	0	1	0	0	0	16803	855	30	3		3	TNNT1	19	55138026	Missense_Mutation	SNP	C	C3N-00203_TP	198055	55138026	3479590	436	12384											
ZNF628	0	.	GRCh38	chr19	55482249	55482249	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcccgccgccgccccCgcgcctggctttgcctgtct	0	9	9	23	5	1	0	0	0	1	0	3	0	3	0	9	1	1	1	9	1	0	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1056C>T	p.=	p.P352P	ENST00000598519	3/3	95	90	5	114	114	0	varscan-mutect	ZNF628,synonymous_variant,p.=,ENST00000598519,NM_033113.2;ZNF628,synonymous_variant,p.=,ENST00000391718,;NAT14,upstream_gene_variant,,ENST00000205194,NM_020378.3;NAT14,upstream_gene_variant,,ENST00000591590,;NAT14,upstream_gene_variant,,ENST00000588985,;ZNF628,downstream_gene_variant,,ENST00000591164,;NAT14,upstream_gene_variant,,ENST00000587400,;NAT14,upstream_gene_variant,,ENST00000592719,;	T	ENST00000598519	Transcript	synonymous_variant	1609/3847	1056/3180	352/1059	P	ccC/ccT		1		1	ZNF628	HGNC	HGNC:28054	protein_coding	YES	CCDS33116.3	ENSP00000469591	Q5EBL2		UPI00026B9C6E	NM_033113.2			3/3		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	42	55482249	55482249	C	T	1	0	0	0	0	0	0	0	1	18627	639	23	1		1	ZNF628	19	55482249	Silent	SNP	C	C3N-00203_TP	344223	55482249	3135367	437	12385											
ZNF814	0	.	GRCh38	chr19	57873899	57873899	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgactgaaagatttcccAcattctccacactgataagg	12	13	6	10	0	1	4	0	3	1	1	3	4	2	4	2	1	0	0	2	1	2	5	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.1491T>A	p.Cys497Ter	p.C497*	ENST00000435989	3/3	161	114	47	224	224	0	strelka-varscan-mutect	ZNF814,stop_gained,p.Cys497Ter,ENST00000435989,NM_001144989.1;ZNF814,stop_gained,p.Cys331Ter,ENST00000614383,;ZNF814,intron_variant,,ENST00000597832,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,intron_variant,,ENST00000595048,;ZNF814,downstream_gene_variant,,ENST00000597807,;ZNF814,intron_variant,,ENST00000594629,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,intron_variant,,ENST00000595894,;ZNF814,upstream_gene_variant,,ENST00000594159,;CTD-2583A14.9,downstream_gene_variant,,ENST00000602124,;	T	ENST00000435989	Transcript	stop_gained	1726/3146	1491/2568	497/855	C/*	tgT/tgA		1		-1	ZNF814	HGNC	HGNC:33258	protein_coding	YES	CCDS46212.1	ENSP00000410545	B7Z6K7		UPI0001662BAD	NM_001144989.1			3/3		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	42	57873899	57873899	A	T	1	0	0	0	0	0	1	0	0	18762	157	6	4		4	ZNF814	19	57873899	Nonsense_Mutation	SNP	A	C3N-00203_TP	2391650	57873899	743717	438	12386											
SOX12	0	.	GRCh38	chr20	326272	326272	+	Frame_Shift_Del	DEL	G	G	-																															cggccgcgcaaaaagagcaaGggggcgcccgccaaggcgcg																										C3N-00203_TP	C3N-00203_NB	G	G																c.352delG	p.Ala118ArgfsTer181	p.A118Rfs*181	ENST00000342665	1/1	68	43	25	55	55	0	sindel-varindel-pindel	SOX12,frameshift_variant,p.Ala118ArgfsTer181,ENST00000342665,NM_006943.3;NRSN2-AS1,intron_variant,,ENST00000442637,;NRSN2-AS1,upstream_gene_variant,,ENST00000414676,;	-	ENST00000342665	Transcript	frameshift_variant	678/4630	348/948	116/315	K/X	aaG/aa	COSM3545190	1		1	SOX12	HGNC	HGNC:11198	protein_coding	YES	CCDS12995.1	ENSP00000347646	O15370		UPI0000167B9D	NM_006943.3			1/1		Gene3D:1.10.30.10,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF221,Low_complexity_(Seg):seg											1						HIGH		deletion		4	1	1										PASS		.	.												-	7	5	42	326272	326272	G	-	1	0	1	0	1	0	0	0	0	15269	991	35	0		0	SOX12	20	326272	Frame_Shift_Del	DEL	G	C3N-00203_TP		326272	64117895	439	12387											
IDH3B	0	.	GRCh38	chr20	2663706	2663706	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctcaggccccacaccgTctcccggaagcatggtcacg	8	6	10	17	3	4	0	3	0	1	0	5	1	4	1	4	3	2	2	4	3	1	0	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.170A>G	p.Asp57Gly	p.D57G	ENST00000380843	3/12	595	474	121	405	405	0	strelka-varscan-mutect	IDH3B,missense_variant,p.Asp57Gly,ENST00000380843,NM_006899.3;IDH3B,missense_variant,p.Asp57Gly,ENST00000613370,NM_001258384.1;IDH3B,missense_variant,p.Asp57Gly,ENST00000474315,;IDH3B,missense_variant,p.Asp57Gly,ENST00000380851,NM_174855.2;RP4-686C3.7,upstream_gene_variant,,ENST00000418739,;IDH3B,non_coding_transcript_exon_variant,,ENST00000488299,;IDH3B,non_coding_transcript_exon_variant,,ENST00000462967,;IDH3B,non_coding_transcript_exon_variant,,ENST00000491065,;IDH3B,upstream_gene_variant,,ENST00000492240,;IDH3B,upstream_gene_variant,,ENST00000466494,;IDH3B,upstream_gene_variant,,ENST00000477689,;IDH3B,upstream_gene_variant,,ENST00000466999,;IDH3B,upstream_gene_variant,,ENST00000479376,;	C	ENST00000380843	Transcript	missense_variant	201/1545	170/1158	57/385	D/G	gAc/gGc		1		-1	IDH3B	HGNC	HGNC:5385	protein_coding	YES	CCDS13032.1	ENSP00000370223	O43837		UPI000013CBC6	NM_006899.3	deleterious(0)		3/12		Gene3D:3.40.718.10,Pfam_domain:PF00180,hmmpanther:PTHR11835,hmmpanther:PTHR11835:SF42,SMART_domains:SM01329,Superfamily_domains:SSF53659,TIGRFAM_domain:TIGR00175																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	2663706	2663706	T	C	1	0	0	0	0	1	0	0	0	7397	1667	58	5		5	IDH3B	20	2663706	Missense_Mutation	SNP	T	C3N-00203_TP	2337434	2663706	61780461	440	12388											
SIGLEC1	0	.	GRCh38	chr20	3694525	3694525	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgagtgtgacgtggcgTggggcatctacacagggtgg	7	9	19	6	2	1	2	0	2	1	0	1	2	1	2	0	5	1	2	0	5	2	2	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.2952A>G	p.=	p.P984P	ENST00000344754	12/21	35	28	7	32	32	0	strelka-varscan-mutect	SIGLEC1,synonymous_variant,p.=,ENST00000344754,NM_023068.3;SIGLEC1,upstream_gene_variant,,ENST00000419548,;	C	ENST00000344754	Transcript	synonymous_variant	2952/6720	2952/5130	984/1709	P	ccA/ccG		1		-1	SIGLEC1	HGNC	HGNC:11127	protein_coding	YES	CCDS13060.1	ENSP00000341141	Q9BZZ2		UPI0000049BA6	NM_023068.3			12/21		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs746977518	.												C	2	2	42	3694525	3694525	T	C	1	0	0	0	0	0	0	0	1	14569	1683	59	5		5	SIGLEC1	20	3694525	Silent	SNP	T	C3N-00203_TP	1030819	3694525	60749642	441	12389											
COMMD7	0	.	GRCh38	chr20	32728091	32728091	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagaatgttttatttacctCttttggctcagttaggaagt	10	17	8	6	0	2	1	1	0	1	1	2	2	2	2	1	2	1	3	1	2	5	7	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.136G>C	p.Glu46Gln	p.E46Q	ENST00000278980	2/9	222	197	25	205	205	0	strelka-varscan-mutect	COMMD7,missense_variant,p.Glu46Gln,ENST00000278980,NM_053041.2;COMMD7,missense_variant,p.Glu45Gln,ENST00000446419,NM_001099339.1;COMMD7,missense_variant,p.Glu46Gln,ENST00000474815,;COMMD7,splice_region_variant,,ENST00000610160,;	G	ENST00000278980	Transcript	missense_variant,splice_region_variant	742/1900	136/603	46/200	E/Q	Gag/Cag		1		-1	COMMD7	HGNC	HGNC:16223	protein_coding	YES	CCDS42864.1	ENSP00000278980	Q86VX2		UPI000006D145	NM_053041.2	tolerated(0.1)		2/9		hmmpanther:PTHR16231,hmmpanther:PTHR16231:SF2,Pfam_domain:PF07258																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	42	32728091	32728091	C	G	1	0	0	0	0	1	0	0	0	3513	927	32	4		4	COMMD7	20	32728091	Missense_Mutation	SNP	C	C3N-00203_TP	29033566	32728091	31716076	442	12390											
MMP24	0	.	GRCh38	chr20	35251996	35251996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccctgactggacagaagTggaggcaaaaacacatcacc	15	5	10	11	0	1	2	1	1	0	1	1	4	1	4	2	3	2	1	2	3	3	0	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.487T>C	p.Trp163Arg	p.W163R	ENST00000246186	3/9	248	211	37	196	196	0	strelka-varscan-mutect	MMP24,missense_variant,p.Trp163Arg,ENST00000246186,NM_006690.3;MMP24-AS1,intron_variant,,ENST00000635104,;MMP24-AS1,intron_variant,,ENST00000566203,;MMP24-AS1,intron_variant,,ENST00000438751,;MMP24-AS1,intron_variant,,ENST00000456350,;MMP24-AS1,intron_variant,,ENST00000433764,;MMP24-AS1,intron_variant,,ENST00000454184,;MMP24-AS1,downstream_gene_variant,,ENST00000453892,;	C	ENST00000246186	Transcript	missense_variant	572/4414	487/1938	163/645	W/R	Tgg/Cgg		1		1	MMP24	HGNC	HGNC:7172	protein_coding	YES	CCDS46593.1	ENSP00000246186	Q9Y5R2		UPI000012F259	NM_006690.3	deleterious(0)		3/9		hmmpanther:PTHR10201:SF138,hmmpanther:PTHR10201,Pfam_domain:PF00413,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,SMART_domains:SM00235,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	35251996	35251996	T	C	1	0	0	0	0	1	0	0	0	9624	1696	59	5		5	MMP24	20	35251996	Missense_Mutation	SNP	T	C3N-00203_TP	2523905	35251996	29192171	443	12391											
PI3	0	.	GRCh38	chr20	45176105	45176105	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaagtgctgtgaaggctcTtgcgggatggcctgtttcgt	7	12	15	7	2	1	2	0	1	1	1	2	3	1	3	1	3	2	3	1	3	3	2			C3N-00203_TP	C3N-00203_NB	T	T																c.324T>C	p.=	p.S108S	ENST00000243924	2/3	208	186	22	179	179	0	strelka-varscan-mutect	PI3,synonymous_variant,p.=,ENST00000243924,NM_002638.3;	C	ENST00000243924	Transcript	synonymous_variant	371/577	324/354	108/117	S	tcT/tcC	COSM443885	1		1	PI3	HGNC	HGNC:8947	protein_coding	YES	CCDS13344.1	ENSP00000243924	P19957		UPI0000000CAE	NM_002638.3			2/3		PROSITE_profiles:PS51390,hmmpanther:PTHR19441,hmmpanther:PTHR19441:SF30,Pfam_domain:PF00095,Gene3D:4.10.75.10,SMART_domains:SM00217,Superfamily_domains:SSF57256,Prints_domain:PR00003											1						LOW	1	SNV	1		1	1										PASS		rs1029241821	.												C	2	2	42	45176105	45176105	T	C	1	0	0	0	0	0	0	0	1	11959	1596	56	5		5	PI3	20	45176105	Silent	SNP	T	C3N-00203_TP	9924109	45176105	19268062	444	12392											
NCOA3	0	.	GRCh38	chr20	47622278	47622278	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagaaaacttggatccaCtggccagtgattcacgaaaa	15	8	10	8	1	1	2	1	1	0	1	2	5	2	3	2	3	1	0	2	3	5	3	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.31C>T	p.=	p.L11L	ENST00000371998	3/23	128	107	21	100	100	0	strelka-varscan-mutect	NCOA3,synonymous_variant,p.=,ENST00000372004,NM_006534.3;NCOA3,synonymous_variant,p.=,ENST00000371997,NM_001174088.1;NCOA3,synonymous_variant,p.=,ENST00000371998,NM_001174087.1,NM_181659.2;NCOA3,upstream_gene_variant,,ENST00000497292,;NCOA3,upstream_gene_variant,,ENST00000490248,;	T	ENST00000371998	Transcript	synonymous_variant	222/4668	31/4275	11/1424	L	Ctg/Ttg		1		1	NCOA3	HGNC	HGNC:7670	protein_coding	YES	CCDS13407.1	ENSP00000361066	Q9Y6Q9		UPI000012FE45	NM_001174087.1,NM_181659.2			3/23		hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	42	47622278	47622278	C	T	1	0	0	0	0	0	0	0	1	10249	564	20	3		3	NCOA3	20	47622278	Silent	SNP	C	C3N-00203_TP	2446173	47622278	16821889	445	12393											
ARFGEF2	0	.	GRCh38	chr20	48994460	48994460	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctcttagatcttgaaaTgcatcagccagctggagctc	9	13	8	11	0	3	2	1	1	2	1	5	3	3	3	1	1	4	3	1	1	2	3	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.2983T>C	p.Cys995Arg	p.C995R	ENST00000371917	22/39	541	469	72	449	449	0	strelka-varscan-mutect	ARFGEF2,missense_variant,p.Cys995Arg,ENST00000371917,NM_006420.2;ARFGEF2,upstream_gene_variant,,ENST00000493140,;	C	ENST00000371917	Transcript	missense_variant	2983/8852	2983/5358	995/1785	C/R	Tgc/Cgc		1		1	ARFGEF2	HGNC	HGNC:15853	protein_coding	YES	CCDS13411.1	ENSP00000360985	Q9Y6D5		UPI000013D378	NM_006420.2	deleterious(0)		22/39		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF124																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	48994460	48994460	T	C	1	0	0	0	0	1	0	0	0	976	1464	51	5		5	ARFGEF2	20	48994460	Missense_Mutation	SNP	T	C3N-00203_TP	1372182	48994460	15449707	446	12394											
KCNB1	0	.	GRCh38	chr20	49374837	49374837	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctcagcaggtactccatGgtgaaccatgcgatgcacac	12	7	9	13	1	1	1	1	1	0	0	2	2	2	1	3	2	6	3	3	2	3	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.723C>A	p.=	p.T241T	ENST00000371741	2/2	121	89	32	119	119	0	strelka-varscan-mutect	KCNB1,synonymous_variant,p.=,ENST00000371741,NM_004975.2;KCNB1,synonymous_variant,p.=,ENST00000635465,;KCNB1,intron_variant,,ENST00000635878,;KCNB1,non_coding_transcript_exon_variant,,ENST00000635210,;RP4-791K14.2,intron_variant,,ENST00000637341,;KCNB1,upstream_gene_variant,,ENST00000636838,;RP4-791K14.2,downstream_gene_variant,,ENST00000637091,;RP4-791K14.2,downstream_gene_variant,,ENST00000637575,;KCNB1,upstream_gene_variant,,ENST00000637131,;	T	ENST00000371741	Transcript	synonymous_variant	919/11879	723/2577	241/858	T	acC/acA		1		-1	KCNB1	HGNC	HGNC:6231	protein_coding	YES	CCDS13418.1	ENSP00000360806	Q14721		UPI000012DC80	NM_004975.2			2/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR11537:SF134,hmmpanther:PTHR11537,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324,Prints_domain:PR00169																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	42	49374837	49374837	G	T	1	0	0	0	0	0	0	0	1	7928	1335	47	2		2	KCNB1	20	49374837	Silent	SNP	G	C3N-00203_TP	380377	49374837	15069330	447	12395											
MOCS3	0	.	GRCh38	chr20	50959746	50959746	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgactgtgcagcttgcgggGaacggcccactgtgactgat	7	9	14	11	3	0	2	0	2	0	0	1	4	0	3	1	3	4	2	1	3	1	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.904G>T	p.Glu302Ter	p.E302*	ENST00000244051	1/1	186	161	25	162	162	0	strelka-varscan-mutect	MOCS3,stop_gained,p.Glu302Ter,ENST00000244051,NM_014484.4;DPM1,upstream_gene_variant,,ENST00000371582,NM_001317035.1;DPM1,upstream_gene_variant,,ENST00000371588,NM_003859.1;DPM1,upstream_gene_variant,,ENST00000371584,;DPM1,upstream_gene_variant,,ENST00000413082,;DPM1,upstream_gene_variant,,ENST00000466152,;	T	ENST00000244051	Transcript	stop_gained	921/5106	904/1383	302/460	E/*	Gaa/Taa		1		1	MOCS3	HGNC	HGNC:15765	protein_coding	YES	CCDS13435.1	ENSP00000244051	O95396		UPI000012F369	NM_014484.4			1/1		HAMAP:MF_03049,hmmpanther:PTHR10953,Superfamily_domains:SSF69572																	HIGH		SNV				1										PASS		.	.												T	4	4	42	50959746	50959746	G	T	1	0	0	0	0	0	1	0	0	9655	1175	41	2		2	MOCS3	20	50959746	Nonsense_Mutation	SNP	G	C3N-00203_TP	1584909	50959746	13484421	448	12396											
MC3R	0	.	GRCh38	chr20	56249485	56249485	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacatgttcctctttgcGcggctgcacgtcaagcgcat	6	11	11	13	4	2	0	1	0	1	0	3	0	3	0	1	1	4	5	1	1	1	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.642G>A	p.=	p.A214A	ENST00000243911	1/1	346	299	47	333	333	0	strelka-varscan-mutect	MC3R,synonymous_variant,p.=,ENST00000243911,NM_019888.3;	A	ENST00000243911	Transcript	synonymous_variant	754/1084	642/972	214/323	A	gcG/gcA		1		1	MC3R	HGNC	HGNC:6931	protein_coding	YES	CCDS13449.2	ENSP00000243911	P41968		UPI0000E5A34B	NM_019888.3			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF4,SMART_domains:SM01381,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	42	56249485	56249485	G	A	1	0	0	0	0	0	0	0	1	9298	1074	38	1		1	MC3R	20	56249485	Silent	SNP	G	C3N-00203_TP	5289739	56249485	8194682	449	12397											
GNAS	0	.	GRCh38	chr20	58854608	58854608	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactccggggcggcccctgAcgccccagccgatcccgact	5	4	12	20	6	0	1	0	1	0	0	2	4	2	1	7	3	1	0	7	3	0	0	rs776846313		C3N-00203_TP	C3N-00203_NB	A	A																c.1343A>C	p.Asp448Ala	p.D448A	ENST00000371100	1/13	200	189	11	147	145	2	varscan-mutect	GNAS,missense_variant,p.Asp448Ala,ENST00000371100,NM_080425.2;GNAS,missense_variant,p.Asp448Ala,ENST00000371099,;GNAS,missense_variant,p.Asp448Ala,ENST00000371102,;GNAS,missense_variant,p.Thr385Pro,ENST00000306120,NM_001077490.1;GNAS,intron_variant,,ENST00000313949,;GNAS,intron_variant,,ENST00000371075,NM_016592.2;GNAS,intron_variant,,ENST00000371098,;GNAS,intron_variant,,ENST00000419558,;GNAS,intron_variant,,ENST00000453292,;GNAS,upstream_gene_variant,,ENST00000423897,;GNAS,upstream_gene_variant,,ENST00000450130,;GNAS,upstream_gene_variant,,ENST00000349036,;GNAS-AS1,upstream_gene_variant,,ENST00000424094,;GNAS-AS1,upstream_gene_variant,,ENST00000598163,;GNAS-AS1_5,downstream_gene_variant,,ENST00000614281,;GNAS-AS1_4,downstream_gene_variant,,ENST00000616546,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,non_coding_transcript_exon_variant,,ENST00000481768,;GNAS,intron_variant,,ENST00000491348,;GNAS,intron_variant,,ENST00000472183,;GNAS,intron_variant,,ENST00000493744,;GNAS,intron_variant,,ENST00000482112,;GNAS,intron_variant,,ENST00000490374,;GNAS,intron_variant,,ENST00000467227,;GNAS,intron_variant,,ENST00000462499,;	C	ENST00000371100	Transcript	missense_variant	1895/4029	1343/3114	448/1037	D/A	gAc/gCc	rs776846313	1		1	GNAS	HGNC	HGNC:4392	protein_coding	YES	CCDS46622.1	ENSP00000360141	Q5JWF2		UPI0000E444AE	NM_080425.2	tolerated_low_confidence(0.66)		1/13		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs776846313	.												C	3	2	42	58854608	58854608	A	C	1	0	0	0	0	1	0	0	0	6390	275	10	5		5	GNAS	20	58854608	Missense_Mutation	SNP	A	C3N-00203_TP	2605123	58854608	5589559	450	12398											
HELZ2	0	.	GRCh38	chr20	63562317	63562317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggctgcgggacaggccggCccagtgcgatgctggtgacc	5	5	19	12	3	0	1	0	1	0	0	0	3	0	2	3	6	3	2	3	6	0	0	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.6368G>T	p.Gly2123Val	p.G2123V	ENST00000467148	9/19	77	67	10	63	62	1	strelka-varscan-mutect	HELZ2,missense_variant,p.Gly2123Val,ENST00000467148,NM_001037335.2;HELZ2,missense_variant,p.Gly1554Val,ENST00000427522,NM_033405.3;HELZ2,upstream_gene_variant,,ENST00000478861,;	A	ENST00000467148	Transcript	missense_variant	6438/8064	6368/7950	2123/2649	G/V	gGc/gTc		1		-1	HELZ2	HGNC	HGNC:30021	protein_coding	YES	CCDS33508.1	ENSP00000417401	Q9BYK8		UPI0000246BF7	NM_001037335.2	deleterious(0)		9/19		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF376																	MODERATE	1	SNV	1			1										PASS		rs1304596570	.												A	3	1	42	63562317	63562317	C	A	1	0	0	0	0	1	0	0	0	6932	739	26	2		2	HELZ2	20	63562317	Missense_Mutation	SNP	C	C3N-00203_TP	4707709	63562317	881850	451	12399											
MYT1	0	.	GRCh38	chr20	64208105	64208105	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaagaggaagaggaGgaggaggaggcagctcctga	15	2	20	4	0	0	4	0	1	0	3	1	11	1	10	1	7	1	2	1	7	3	0			C3N-00203_TP	C3N-00203_NB	G	G																c.909G>A	p.=	p.E303E	ENST00000328439	7/23	120	96	24	99	99	0	strelka-varscan-mutect	MYT1,synonymous_variant,p.=,ENST00000536311,;MYT1,synonymous_variant,p.=,ENST00000328439,NM_004535.2;MYT1,intron_variant,,ENST00000622439,;MYT1,intron_variant,,ENST00000360149,;	A	ENST00000328439	Transcript	synonymous_variant	1273/5535	909/3366	303/1121	E	gaG/gaA	COSM4100602,COSM4100603	1		1	MYT1	HGNC	HGNC:7622	protein_coding	YES	CCDS13558.1	ENSP00000327465	Q01538		UPI000012FBFA	NM_004535.2			7/23		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1169280249	.												A	2	1	42	64208105	64208105	G	A	1	0	0	0	0	0	0	0	1	10105	991	35	3		3	MYT1	20	64208105	Silent	SNP	G	C3N-00203_TP	645788	64208105	236062	452	12400											
LIPI	0	.	GRCh38	chr21	14189385	14189385	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaaggaatcctttacactTagctgagagaattcaaggca	14	10	9	8	0	1	3	1	2	0	1	2	5	2	4	1	2	2	2	1	2	6	4	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.144A>C	p.=	p.L48L	ENST00000344577	2/10	130	108	22	122	122	0	strelka-varscan-mutect	LIPI,synonymous_variant,p.=,ENST00000344577,NM_198996.3;LIPI,synonymous_variant,p.=,ENST00000536861,NM_001303000.1,NM_001302998.1;LIPI,synonymous_variant,p.=,ENST00000614229,NM_001302999.1;LIPI,upstream_gene_variant,,ENST00000400211,;	G	ENST00000344577	Transcript	synonymous_variant	170/1652	144/1446	48/481	L	ctA/ctC		1		-1	LIPI	HGNC	HGNC:18821	protein_coding	YES	CCDS13564.1	ENSP00000343331	Q6XZB0		UPI000462096D	NM_198996.3			2/10		hmmpanther:PTHR11610:SF103,hmmpanther:PTHR11610,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	42	14189385	14189385	T	G	1	0	0	0	0	0	0	0	1	8746	1741	61	5		5	LIPI	21	14189385	Silent	SNP	T	C3N-00203_TP		14189385	32520598	453	12401											
C21orf91	0	.	GRCh38	chr21	17796787	17796787	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgtacagttagagatGccacctgcacttccatctat	9	14	7	11	0	1	1	0	0	1	1	2	2	2	1	3	0	3	3	3	0	3	5	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.459C>G	p.=	p.G153G	ENST00000284881	3/5	287	259	28	280	280	0	strelka-varscan-mutect	C21orf91,synonymous_variant,p.=,ENST00000284881,NM_001100420.1;C21orf91,synonymous_variant,p.=,ENST00000400559,NM_017447.3;C21orf91,synonymous_variant,p.=,ENST00000400558,NM_001100421.1;C21orf91,synonymous_variant,p.=,ENST00000405964,;C21orf91-OT1,upstream_gene_variant,,ENST00000430815,;C21orf91-OT1,upstream_gene_variant,,ENST00000439392,;C21orf91-OT1,upstream_gene_variant,,ENST00000430401,;AL109761.5,intron_variant,,ENST00000428689,;C21orf91,non_coding_transcript_exon_variant,,ENST00000493464,;	C	ENST00000284881	Transcript	synonymous_variant	550/5433	459/894	153/297	G	ggC/ggG		1		-1	C21orf91	HGNC	HGNC:16459	protein_coding	YES	CCDS42907.1	ENSP00000284881	Q9NYK6		UPI000004A0E1	NM_001100420.1			3/5		Pfam_domain:PF06937,hmmpanther:PTHR15961																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	42	17796787	17796787	G	C	1	0	0	0	0	0	0	0	1	2016	1306	46	4		4	C21orf91	21	17796787	Silent	SNP	G	C3N-00203_TP	3607402	17796787	28913196	454	12402											
RIPK4	0	.	GRCh38	chr21	41756645	41756645	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctcgtggatgattcggaaCcggagatcccatggcaatgg	9	9	14	9	3	1	2	0	1	1	1	4	5	2	4	2	5	1	1	2	5	2	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.354G>T	p.=	p.R118R	ENST00000332512	2/8	416	312	104	365	365	0	strelka-varscan-mutect	RIPK4,synonymous_variant,p.=,ENST00000352483,;RIPK4,synonymous_variant,p.=,ENST00000332512,NM_020639.2;	A	ENST00000332512	Transcript	synonymous_variant	419/3889	354/2355	118/784	R	cgG/cgT		1		-1	RIPK4	HGNC	HGNC:496	protein_coding	YES	CCDS13675.1	ENSP00000332454	P57078		UPI000002A3C9	NM_020639.2			2/8		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24198,hmmpanther:PTHR24198:SF65,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	41756645	41756645	C	A	1	0	0	0	0	0	0	0	1	13557	494	18	2		2	RIPK4	21	41756645	Silent	SNP	C	C3N-00203_TP	23959858	41756645	4953338	455	12403											
TRPM2	0	.	GRCh38	chr21	44441804	44441804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaggcagccgctgagttcgGggctcactactgactgtgcc	7	8	14	12	2	1	2	1	2	0	0	2	3	1	2	2	3	3	4	2	3	2	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.4499G>A	p.Gly1500Glu	p.G1500E	ENST00000397928	32/32	85	59	26	60	60	0	strelka-varscan-mutect	TRPM2,missense_variant,p.Gly1500Glu,ENST00000397928,NM_003307.3;TRPM2,missense_variant,p.Gly1500Glu,ENST00000300482,;TRPM2,missense_variant,p.Gly1446Glu,ENST00000300481,;TRPM2,missense_variant,p.Gly1550Glu,ENST00000397932,;TRPM2,missense_variant,p.Gly244Glu,ENST00000621064,;snoZ6,downstream_gene_variant,,ENST00000583496,;snoZ6,downstream_gene_variant,,ENST00000581669,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;TRPM2,non_coding_transcript_exon_variant,,ENST00000490982,;	A	ENST00000397928	Transcript	missense_variant	4944/6221	4499/4512	1500/1503	G/E	gGg/gAg		1		1	TRPM2	HGNC	HGNC:12339	protein_coding	YES	CCDS13710.1	ENSP00000381023	O94759		UPI0000169D60	NM_003307.3	tolerated(0.15)		32/32		hmmpanther:PTHR13800:SF2,hmmpanther:PTHR13800,Gene3D:3.90.79.10,Superfamily_domains:SSF55811																	MODERATE	1	SNV	1			1										PASS		rs1290493135	.												A	3	1	42	44441804	44441804	G	A	1	0	0	0	0	1	0	0	0	17092	1232	43	3		3	TRPM2	21	44441804	Missense_Mutation	SNP	G	C3N-00203_TP	2685159	44441804	2268179	456	12404											
ELFN2	0	.	GRCh38	chr22	37374631	37374631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtgaacgtgacgtggtGcagcttgatggctggccctg	6	9	17	9	3	0	3	0	3	0	0	0	4	0	3	1	4	3	3	1	4	1	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.904C>A	p.His302Asn	p.H302N	ENST00000402918	3/3	117	81	36	133	132	1	strelka-varscan-mutect	ELFN2,missense_variant,p.His302Asn,ENST00000402918,NM_052906.4;ELFN2,missense_variant,p.His302Asn,ENST00000613079,;ELFN2,intron_variant,,ENST00000430883,;ELFN2,intron_variant,,ENST00000452946,;RP1-63G5.8,downstream_gene_variant,,ENST00000609322,;ELFN2,downstream_gene_variant,,ENST00000435824,;ELFN2,downstream_gene_variant,,ENST00000415408,;ELFN2,downstream_gene_variant,,ENST00000414347,;ELFN2,downstream_gene_variant,,ENST00000451509,;ELFN2,downstream_gene_variant,,ENST00000424973,;	T	ENST00000402918	Transcript	missense_variant	1690/8361	904/2463	302/820	H/N	Cac/Aac		1		-1	ELFN2	HGNC	HGNC:29396	protein_coding	YES	CCDS33642.1	ENSP00000385277	Q5R3F8		UPI000004E87D	NM_052906.4	deleterious(0.04)		3/3		hmmpanther:PTHR24367:SF248,hmmpanther:PTHR24367																	MODERATE		SNV	4			1										PASS		.	.												T	3	4	42	37374631	37374631	G	T	1	0	0	0	0	1	0	0	0	4892	1319	46	2		2	ELFN2	22	37374631	Missense_Mutation	SNP	G	C3N-00203_TP		37374631	13443837	457	12405											
CARD10	0	.	GRCh38	chr22	37495946	37495946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggttggcacgaatgtagaagGgctcggcacctggtcccttt	7	10	14	10	2	0	1	0	0	0	1	2	2	1	1	2	5	0	5	2	5	3	3	rs779872538		C3N-00203_TP	C3N-00203_NB	G	G																c.2117C>A	p.Pro706His	p.P706H	ENST00000403299	15/21	232	157	75	253	253	0	strelka-varscan-mutect	CARD10,missense_variant,p.Pro706His,ENST00000403299,;CARD10,missense_variant,p.Pro706His,ENST00000251973,NM_014550.3;CARD10,missense_variant,p.Pro420His,ENST00000406271,;CARD10,missense_variant,p.Pro347His,ENST00000437756,;CARD10,missense_variant,p.Pro178His,ENST00000433485,;CARD10,non_coding_transcript_exon_variant,,ENST00000486118,;CARD10,non_coding_transcript_exon_variant,,ENST00000488141,;CARD10,upstream_gene_variant,,ENST00000467812,;	T	ENST00000403299	Transcript	missense_variant	2334/4113	2117/3099	706/1032	P/H	cCc/cAc	rs779872538	1		-1	CARD10	HGNC	HGNC:16422	protein_coding	YES	CCDS13948.1	ENSP00000384570	Q9BWT7		UPI0000044645		deleterious(0)		15/21		hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF12																	MODERATE	1	SNV	5			1										PASS		rs779872538	.												T	3	4	42	37495946	37495946	G	T	1	0	0	0	0	1	0	0	0	2339	1232	43	2		2	CARD10	22	37495946	Missense_Mutation	SNP	G	C3N-00203_TP	121315	37495946	13322522	458	12406											
CACNA1I	0	.	GRCh38	chr22	39663816	39663816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcaccatcgccctggagcGgcctcagatcgaggccggca	8	5	12	16	4	2	1	2	0	0	1	4	3	2	2	4	4	1	1	4	4	0	0	rs769347392		C3N-00203_TP	C3N-00203_NB	G	G																c.3572G>T	p.Arg1191Leu	p.R1191L	ENST00000402142	19/37	158	119	39	138	138	0	strelka-varscan-mutect	CACNA1I,missense_variant,p.Arg1191Leu,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Arg1156Leu,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Arg1191Leu,ENST00000401624,;CACNA1I,missense_variant,p.Arg1156Leu,ENST00000407673,;	T	ENST00000402142	Transcript	missense_variant	3572/10004	3572/6672	1191/2223	R/L	cGg/cTg	rs769347392	1		1	CACNA1I	HGNC	HGNC:1396	protein_coding	YES	CCDS46710.1	ENSP00000385019	Q9P0X4		UPI000012727D	NM_021096.3	deleterious(0)		19/37		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF209,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		rs769347392	.												T	3	4	42	39663816	39663816	G	T	1	0	0	0	0	1	0	0	0	2234	1116	39	1		1	CACNA1I	22	39663816	Missense_Mutation	SNP	G	C3N-00203_TP	2167870	39663816	11154652	459	12407											
DNAJB7	0	.	GRCh38	chr22	40861120	40861120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttacgcttcttttttttcCtcttaccaccctctttgact	4	21	2	14	1	3	1	0	1	3	0	4	1	4	1	3	0	2	1	3	0	2	9	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.875G>A	p.Arg292Lys	p.R292K	ENST00000307221	1/1	85	79	6	87	87	0	varscan-mutect	DNAJB7,missense_variant,p.Arg292Lys,ENST00000307221,NM_145174.1;XPNPEP3,intron_variant,,ENST00000357137,NM_022098.3;ST13,upstream_gene_variant,,ENST00000216218,NM_001278589.1,NM_003932.4;ST13,upstream_gene_variant,,ENST00000620312,;XPNPEP3,downstream_gene_variant,,ENST00000614001,NM_001204827.1;XPNPEP3,intron_variant,,ENST00000482652,;XPNPEP3,upstream_gene_variant,,ENST00000465258,;XPNPEP3,intron_variant,,ENST00000428799,;XPNPEP3,intron_variant,,ENST00000417688,;ST13,upstream_gene_variant,,ENST00000455824,;	T	ENST00000307221	Transcript	missense_variant	1007/2578	875/930	292/309	R/K	aGg/aAg		1		-1	DNAJB7	HGNC	HGNC:24986	protein_coding	YES	CCDS14008.1	ENSP00000307197	Q7Z6W7		UPI000006FBAD	NM_145174.1	tolerated(0.13)		1/1		Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												T	3	4	42	40861120	40861120	C	T	1	0	0	0	0	1	0	0	0	4439	681	24	3		3	DNAJB7	22	40861120	Missense_Mutation	SNP	C	C3N-00203_TP	1197304	40861120	9957348	460	12408											
MAPK8IP2	0	.	GRCh38	chr22	50604649	50604649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacaccatcacgccgctgtgGgccgcgcccggccgcgccgc	4	3	14	20	8	1	0	1	0	0	0	1	1	1	0	6	2	0	1	6	2	0	0	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.1350G>T	p.Trp450Cys	p.W450C	ENST00000329492	5/12	97	68	29	104	104	0	strelka-varscan-mutect	MAPK8IP2,missense_variant,p.Trp450Cys,ENST00000329492,NM_012324.4;CHKB,upstream_gene_variant,,ENST00000463053,;MAPK8IP2,non_coding_transcript_exon_variant,,ENST00000008876,;	T	ENST00000329492	Transcript	missense_variant	1484/3381	1350/2475	450/824	W/C	tgG/tgT		1		1	MAPK8IP2	HGNC	HGNC:6883	protein_coding	YES	CCDS74886.1	ENSP00000330572	Q13387		UPI000012DAB7	NM_012324.4	deleterious_low_confidence(0.03)		5/12																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	50604649	50604649	G	T	1	0	0	0	0	1	0	0	0	9209	1241	43	2		2	MAPK8IP2	22	50604649	Missense_Mutation	SNP	G	C3N-00203_TP	9743529	50604649	213819	461	12409											
P2RY8	0	.	GRCh38	chrX	1466454	1466454	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgcccgggatgctgacCgccgccaccagcgagtacac	8	5	13	15	4	0	1	0	1	0	0	0	3	0	2	5	2	4	3	5	2	1	2			C3N-00203_TP	C3N-00203_NB	C	C																c.105G>T	p.=	p.A35A	ENST00000381297	2/2	403	326	77	298	298	0	strelka-varscan-mutect	P2RY8,synonymous_variant,p.=,ENST00000381297,NM_178129.4;P2RY8,synonymous_variant,p.=,ENST00000460672,;	A	ENST00000381297	Transcript	synonymous_variant	316/4198	105/1080	35/359	A	gcG/gcT	COSM4909610,COSM4909611	1		-1	P2RY8	HGNC	HGNC:15524	protein_coding	YES	CCDS14115.1	ENSP00000370697	Q86VZ1		UPI000000DA6D	NM_178129.4			2/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF25,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	42	1466454	1466454	C	A	1	0	0	0	0	0	0	0	1	11428	639	23	1		1	P2RY8	23	1466454	Silent	SNP	C	C3N-00203_TP		1466454	154574441	462	12410											
FANCB	0	.	GRCh38	chrX	14864576	14864576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacctgaaagctctctttcCatacagcacaagcattattg	12	12	6	11	0	1	1	0	1	1	0	3	1	2	1	2	0	5	4	2	0	5	5	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.935G>T	p.Trp312Leu	p.W312L	ENST00000398334	3/10	185	87	98	124	124	0	strelka-varscan-mutect	FANCB,missense_variant,p.Trp312Leu,ENST00000398334,NM_001324162.1,NM_001018113.1;FANCB,missense_variant,p.Trp312Leu,ENST00000324138,NM_152633.2;FANCB,missense_variant,p.Trp312Leu,ENST00000452869,;FANCB,downstream_gene_variant,,ENST00000489126,;	A	ENST00000398334	Transcript	missense_variant	1203/3008	935/2580	312/859	W/L	tGg/tTg		1		-1	FANCB	HGNC	HGNC:3583	protein_coding	YES	CCDS14161.1	ENSP00000381378	Q8NB91	A0A024RBW1	UPI000006E70A	NM_001324162.1,NM_001018113.1	tolerated(0.17)		3/10		hmmpanther:PTHR28450																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	14864576	14864576	C	A	1	0	0	0	0	1	0	0	0	5522	595	21	2		2	FANCB	23	14864576	Missense_Mutation	SNP	C	C3N-00203_TP	13398122	14864576	141176319	463	12411											
GRPR	0	.	GRCh38	chrX	16123984	16123985	+	Frame_Shift_Ins	INS	-	-	C																															tgactgtttccttctgaactINStggaggtggaccatttcatg																								novel		C3N-00203_TP	C3N-00203_NB	-	-																c.31_32insC	p.Leu11SerfsTer23	p.L11Sfs*23	ENST00000380289	1/3	106	59	47	100	100	0	sindel-varindel-pindel	GRPR,frameshift_variant,p.Leu11SerfsTer23,ENST00000380289,NM_005314.2;	C	ENST00000380289	Transcript	frameshift_variant	429-430/1929	31-32/1155	11/384	L/SX	ttg/tCtg		1		1	GRPR	HGNC	HGNC:4609	protein_coding	YES	CCDS14174.1	ENSP00000369643	P30550	X5D7H2	UPI00000503FE	NM_005314.2			1/3		hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF116,Prints_domain:PR00640																	HIGH	1	insertion	1			1										PASS		.	.												C	7	5	42	16123984	16123984	-	C	1	0	1	1	0	0	0	0	0	6690	1606	56	0		0	GRPR	23	16123984	Frame_Shift_Ins	INS	-	C3N-00203_TP	1259408	16123984	139916911	464	12412											
MAGEB6	0	.	GRCh38	chrX	26194569	26194569	+	Silent	SNP	C	C	A																															cagatcctcaacagaacctcCcaacatttggtggtggcctt																								novel		C3N-00203_TP	C3N-00203_NB	C	C																c.723C>A	p.=	p.S241S	ENST00000379034	2/2	61	40	21	67	67	0	strelka-varscan-mutect	MAGEB6,synonymous_variant,p.=,ENST00000379034,NM_173523.2;	A	ENST00000379034	Transcript	synonymous_variant	872/1949	723/1224	241/407	S	tcC/tcA		1		1	MAGEB6	HGNC	HGNC:23796	protein_coding	YES	CCDS14217.1	ENSP00000368320	Q8N7X4		UPI00001413F4	NM_173523.2			2/2		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF80,hmmpanther:PTHR11736,Pfam_domain:PF01454,SMART_domains:SM01373																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	42	26194569	26194569	C	A	1	0	0	0	0	0	0	0	1	9096	610	22	2		2	MAGEB6	23	26194569	Silent	SNP	C	C3N-00203_TP	10070585	26194569	129846326	465	12413	282	2									
MAGEB6	0	.	GRCh38	chrX	26194570	26194570	+	Missense_Mutation	SNP	C	C	A																															agatcctcaacagaacctccCaacatttggtggtggccttt																								novel		C3N-00203_TP	C3N-00203_NB	C	C																c.724C>A	p.Gln242Lys	p.Q242K	ENST00000379034	2/2	61	40	21	68	67	1	strelka-varscan-mutect	MAGEB6,missense_variant,p.Gln242Lys,ENST00000379034,NM_173523.2;	A	ENST00000379034	Transcript	missense_variant	873/1949	724/1224	242/407	Q/K	Caa/Aaa		1		1	MAGEB6	HGNC	HGNC:23796	protein_coding	YES	CCDS14217.1	ENSP00000368320	Q8N7X4		UPI00001413F4	NM_173523.2	deleterious(0.01)		2/2		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF80,hmmpanther:PTHR11736,Pfam_domain:PF01454,SMART_domains:SM01373																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	26194570	26194570	C	A	1	0	0	0	0	1	0	0	0	9096	595	21	2		2	MAGEB6	23	26194570	Missense_Mutation	SNP	C	C3N-00203_TP	1	26194570	129846325	466	12414	282	2									
TAB3	0	.	GRCh38	chrX	30854521	30854521	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgatgggtgaaggactccTattaattgctgtcccaggtc	9	12	11	9	0	0	2	0	2	0	0	3	3	2	3	2	3	1	1	2	3	3	3	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.1144A>G	p.Arg382Gly	p.R382G	ENST00000378933	7/12	124	78	46	109	109	0	strelka-varscan-mutect	TAB3,missense_variant,p.Arg382Gly,ENST00000378933,NM_152787.4;TAB3,missense_variant,p.Arg382Gly,ENST00000378930,;TAB3,missense_variant,p.Arg382Gly,ENST00000378932,;TAB3,downstream_gene_variant,,ENST00000288422,;TAB3-AS2,non_coding_transcript_exon_variant,,ENST00000445240,;TAB3,upstream_gene_variant,,ENST00000378928,;TAB3,missense_variant,p.Arg382Gly,ENST00000467136,;	C	ENST00000378933	Transcript	missense_variant	1691/6671	1144/2139	382/712	R/G	Agg/Ggg		1		-1	TAB3	HGNC	HGNC:30681	protein_coding	YES	CCDS14226.1	ENSP00000368215	Q8N5C8		UPI0000071648	NM_152787.4	deleterious(0.01)		7/12		hmmpanther:PTHR10351:SF45,hmmpanther:PTHR10351																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	30854521	30854521	T	C	1	0	0	0	0	1	0	0	0	15893	1521	53	5		5	TAB3	23	30854521	Missense_Mutation	SNP	T	C3N-00203_TP	4659951	30854521	125186374	467	12415											
CFAP47	0	.	GRCh38	chrX	35989322	35989322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacattttccgtaggcaCtgttgaagcatattcctcac	9	14	6	12	1	2	1	1	1	1	0	4	1	4	1	2	1	2	4	2	1	4	7	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.2717C>T	p.Thr906Ile	p.T906I	ENST00000297866	16/16	87	58	29	82	82	0	strelka-varscan-mutect	CFAP47,missense_variant,p.Thr906Ile,ENST00000378653,NM_001304548.1;CFAP47,missense_variant,p.Thr906Ile,ENST00000297866,NM_152632.3;CFAP47,3_prime_UTR_variant,,ENST00000493930,;	T	ENST00000297866	Transcript	missense_variant	2783/3608	2717/2931	906/976	T/I	aCt/aTt		1		1	CFAP47	HGNC	HGNC:26708	protein_coding	YES	CCDS14237.2	ENSP00000297866	Q6ZTR5		UPI000022DD27	NM_152632.3	tolerated(0.63)		16/16		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF24																	MODERATE	1	SNV	2			1										PASS		rs1437998142	.												T	3	4	42	35989322	35989322	C	T	1	0	0	0	0	1	0	0	0	3022	579	20	3		3	CFAP47	23	35989322	Missense_Mutation	SNP	C	C3N-00203_TP	5134801	35989322	120051573	468	12416											
CFAP47	0	.	GRCh38	chrX	36353584	36353584	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaaggtagaaatcatactGaatgctggttttttcggatt	12	14	11	4	1	1	3	1	1	0	2	2	5	1	4	0	3	2	3	0	3	5	6	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.8754G>A	p.=	p.L2918L	ENST00000378653	60/64	201	101	100	168	168	0	strelka-varscan-mutect	CFAP47,synonymous_variant,p.=,ENST00000378653,NM_001304548.1;	A	ENST00000378653	Transcript	synonymous_variant	8820/9943	8754/9564	2918/3187	L	ctG/ctA		1		1	CFAP47	HGNC	HGNC:26708	protein_coding			ENSP00000367922		A0A140T8X2	UPI000596DACD	NM_001304548.1			60/64		hmmpanther:PTHR23053																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	42	36353584	36353584	G	A	1	0	0	0	0	0	0	0	1	3022	1277	45	3		3	CFAP47	23	36353584	Silent	SNP	G	C3N-00203_TP	364262	36353584	119687311	469	12417											
UBA1	0	.	GRCh38	chrX	47212997	47212997	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtctctcagagcaagcTgattgcagggaagatcatcc	10	11	10	10	0	4	3	2	1	2	2	6	4	5	4	1	1	3	3	1	1	2	2	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.2654T>G	p.Leu885Arg	p.L885R	ENST00000335972	23/26	185	117	68	157	157	0	strelka-varscan-mutect	UBA1,missense_variant,p.Leu885Arg,ENST00000335972,NM_003334.3;UBA1,missense_variant,p.Leu885Arg,ENST00000377351,NM_153280.2;UBA1,missense_variant,p.Leu333Arg,ENST00000377269,;CDK16,upstream_gene_variant,,ENST00000517997,;	G	ENST00000335972	Transcript	missense_variant	2837/3559	2654/3177	885/1058	L/R	cTg/cGg		1		1	UBA1	HGNC	HGNC:12469	protein_coding	YES	CCDS14275.1	ENSP00000338413	P22314	A0A024R1A3	UPI0000137946	NM_003334.3	tolerated(0.56)		23/26		hmmpanther:PTHR10953:SF144,hmmpanther:PTHR10953,Gene3D:1y8qD02,Pfam_domain:PF00899,TIGRFAM_domain:TIGR01408,Superfamily_domains:SSF69572																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	42	47212997	47212997	T	G	1	0	0	0	0	1	0	0	0	17346	1580	55	5		5	UBA1	23	47212997	Missense_Mutation	SNP	T	C3N-00203_TP	10859413	47212997	108827898	470	12418											
FTSJ1	0	.	GRCh38	chrX	48481681	48481681	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcccgagggcttcatcccGgacctgagcaaacccctgct	7	7	9	18	2	1	1	1	1	0	0	3	3	3	2	6	2	3	3	6	2	1	1	rs782597073		C3N-00203_TP	C3N-00203_NB	G	G																c.621G>A	p.=	p.P207P	ENST00000348411	9/13	298	164	134	248	248	0	strelka-varscan-mutect	FTSJ1,synonymous_variant,p.=,ENST00000019019,NM_177439.2;FTSJ1,synonymous_variant,p.=,ENST00000348411,NM_012280.3;FTSJ1,synonymous_variant,p.=,ENST00000396894,NM_001282157.1;FTSJ1,non_coding_transcript_exon_variant,,ENST00000496365,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000490202,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000467954,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000489599,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000466371,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000473235,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000492562,;FTSJ1,non_coding_transcript_exon_variant,,ENST00000475806,;FTSJ1,downstream_gene_variant,,ENST00000487353,;FTSJ1,downstream_gene_variant,,ENST00000485486,;	A	ENST00000348411	Transcript	synonymous_variant	944/1892	621/990	207/329	P	ccG/ccA	rs782597073,COSM2966328	1		1	FTSJ1	HGNC	HGNC:13254	protein_coding	YES	CCDS14294.1	ENSP00000326948	Q9UET6	A0A024QYX5	UPI0000001C19	NM_012280.3			9/13		HAMAP:MF_03162,hmmpanther:PTHR10920,hmmpanther:PTHR10920:SF12											0,1						LOW	1	SNV	1		0,1	1										PASS		rs782597073	.												A	2	1	42	48481681	48481681	G	A	1	0	0	0	0	0	0	0	1	5961	1103	39	1		1	FTSJ1	23	48481681	Silent	SNP	G	C3N-00203_TP	1268684	48481681	107559214	471	12419											
ITIH6	0	.	GRCh38	chrX	54791051	54791051	+	Frame_Shift_Del	DEL	G	G	-																															tctgtgcctgctgccaggctGgtggagatgcggaacttctc																								novel		C3N-00203_TP	C3N-00203_NB	G	G																c.402delC	p.Ser135AlafsTer8	p.S135Afs*8	ENST00000218436	4/13	145	68	77	108	108	0	sindel-varindel-pindel	ITIH6,frameshift_variant,p.Ser135AlafsTer8,ENST00000218436,NM_198510.2;ITIH6,upstream_gene_variant,,ENST00000498398,;	-	ENST00000218436	Transcript	frameshift_variant	432/4968	402/3942	134/1313	T/X	acC/ac		1		-1	ITIH6	HGNC	HGNC:28907	protein_coding	YES	CCDS14361.1	ENSP00000218436	Q6UXX5		UPI00000540C8	NM_198510.2			4/13		Pfam_domain:PF08487,PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF10,SMART_domains:SM00609																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	42	54791051	54791051	G	-	1	0	1	0	1	0	0	0	0	7814	1335	47	0		0	ITIH6	23	54791051	Frame_Shift_Del	DEL	G	C3N-00203_TP	6309370	54791051	101249844	472	12420											
DGAT2L6	0	.	GRCh38	chrX	70199828	70199828	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggtggcaggcgttcagcTtgggtacgaaactggaccct	9	8	14	10	2	1	0	1	0	0	0	1	2	1	1	1	5	3	4	1	5	2	3	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.213T>A	p.=	p.A71A	ENST00000333026	3/7	100	61	39	101	101	0	strelka-varscan-mutect	DGAT2L6,synonymous_variant,p.=,ENST00000333026,NM_198512.2;	A	ENST00000333026	Transcript	synonymous_variant	313/1553	213/1014	71/337	A	gcT/gcA		1		1	DGAT2L6	HGNC	HGNC:23250	protein_coding	YES	CCDS14397.1	ENSP00000328036	Q6ZPD8		UPI00001C10BF	NM_198512.2			3/7		Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF19																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	42	70199828	70199828	T	A	1	0	0	0	0	0	0	0	1	4266	1596	56	4		4	DGAT2L6	23	70199828	Silent	SNP	T	C3N-00203_TP	15408777	70199828	85841067	473	12421											
TAF1	0	.	GRCh38	chrX	71381741	71381741	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctccttgcactttgactAggttttgcagccactcttga	6	16	7	12	0	1	2	0	2	1	0	3	2	3	2	3	1	3	3	3	1	1	7	novel		C3N-00203_TP	C3N-00203_NB	A	A																c.1421-2A>G		p.X474_splice	ENST00000423759		75	39	36	60	60	0	strelka-varscan-mutect	TAF1,splice_acceptor_variant,,ENST00000423759,NM_001286074.1;TAF1,splice_acceptor_variant,,ENST00000373790,NM_138923.3;TAF1,splice_acceptor_variant,,ENST00000276072,NM_004606.4;TAF1,downstream_gene_variant,,ENST00000483365,;	G	ENST00000423759	Transcript	splice_acceptor_variant	-/7722	1421/5688	474/1895				1		1	TAF1	HGNC	HGNC:11535	protein_coding	YES	CCDS69783.1	ENSP00000406549	P21675		UPI000171708A	NM_001286074.1				8/38																		HIGH	1	SNV	5			1										PASS		.	.												G	5	3	42	71381741	71381741	A	G	1	0	0	0	0	0	0	1	0	15909	434	15	5		5	TAF1	23	71381741	Splice_Site	SNP	A	C3N-00203_TP	1181913	71381741	84659154	474	12422											
HDAC8	0	.	GRCh38	chrX	72572709	72572709	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catactcgggactatagataTaaaccgggaccagcgactgc	13	7	10	11	3	0	1	0	0	0	1	1	4	0	3	2	2	4	0	2	2	6	5	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.53A>G	p.Tyr18Cys	p.Y18C	ENST00000373573	1/11	84	46	38	59	59	0	strelka-varscan-mutect	HDAC8,missense_variant,p.Tyr18Cys,ENST00000439122,NM_001166419.1;HDAC8,missense_variant,p.Tyr18Cys,ENST00000373571,;HDAC8,missense_variant,p.Tyr18Cys,ENST00000373573,NM_018486.2;HDAC8,missense_variant,p.Tyr18Cys,ENST00000373589,NM_001166418.1;HDAC8,missense_variant,p.Tyr18Cys,ENST00000373568,;HDAC8,missense_variant,p.Tyr18Cys,ENST00000415409,;HDAC8,missense_variant,p.Tyr18Cys,ENST00000373554,NM_001166420.1;HDAC8,missense_variant,p.Tyr18Cys,ENST00000373560,;HDAC8,missense_variant,p.Tyr18Cys,ENST00000373556,NM_001166422.1;HDAC8,missense_variant,p.Tyr18Cys,ENST00000373559,NM_001166448.1;HDAC8,missense_variant,p.Tyr18Cys,ENST00000373583,;HDAC8,upstream_gene_variant,,ENST00000421523,;HDAC8,non_coding_transcript_exon_variant,,ENST00000478743,;HDAC8,missense_variant,p.Tyr18Cys,ENST00000436675,;HDAC8,missense_variant,p.Tyr18Cys,ENST00000412342,;HDAC8,missense_variant,p.Tyr18Cys,ENST00000444609,;HDAC8,non_coding_transcript_exon_variant,,ENST00000486704,;	C	ENST00000373573	Transcript	missense_variant	395/2014	53/1134	18/377	Y/C	tAt/tGt		1		-1	HDAC8	HGNC	HGNC:13315	protein_coding	YES	CCDS14420.1	ENSP00000362674	Q9BY41		UPI00000411E6	NM_018486.2	deleterious(0)		1/11		Gene3D:3.40.800.20,PIRSF_domain:PIRSF037913,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF125,Superfamily_domains:SSF52768																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	72572709	72572709	T	C	1	0	0	0	0	1	0	0	0	6900	1406	49	5		5	HDAC8	23	72572709	Missense_Mutation	SNP	T	C3N-00203_TP	1190968	72572709	83468186	475	12423											
ZCCHC13	0	.	GRCh38	chrX	74304519	74304519	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagactgtaaggatcctaaaCgagagagacgccaacactgt	16	6	10	9	2	0	3	0	0	0	3	1	6	1	4	2	1	2	1	2	1	5	2	rs746589997		C3N-00203_TP	C3N-00203_NB	C	C																c.253C>G	p.Arg85Gly	p.R85G	ENST00000339534	1/1	191	121	70	179	179	0	strelka-varscan-mutect	ZCCHC13,missense_variant,p.Arg85Gly,ENST00000339534,NM_203303.2;	G	ENST00000339534	Transcript	missense_variant	330/842	253/501	85/166	R/G	Cga/Gga	rs746589997,COSM4742358	1		1	ZCCHC13	HGNC	HGNC:31749	protein_coding	YES	CCDS14425.1	ENSP00000345633	Q8WW36		UPI0000070721	NM_203303.2	deleterious(0.01)		1/1		hmmpanther:PTHR23002,hmmpanther:PTHR23002:SF53											0,1						MODERATE	1	SNV			0,1	1										PASS		rs746589997	.												G	3	3	42	74304519	74304519	C	G	1	0	0	0	0	1	0	0	0	18157	528	19	4		4	ZCCHC13	23	74304519	Missense_Mutation	SNP	C	C3N-00203_TP	1731810	74304519	81736376	476	12424											
PGAM4	0	.	GRCh38	chrX	77969551	77969551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtggcccgccgggctcaGatcggcgtcgtaccagcagc	5	6	14	16	6	1	1	1	0	0	1	4	1	1	1	3	3	3	3	3	3	1	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.88C>A	p.Leu30Met	p.L30M	ENST00000458128	1/1	162	76	86	106	106	0	strelka-varscan-mutect	PGAM4,missense_variant,p.Leu30Met,ENST00000458128,NM_001029891.2;ATP7A,intron_variant,,ENST00000341514,NM_000052.6;ATP7A,intron_variant,,ENST00000343533,NM_001282224.1;RP5-1000K24.2,downstream_gene_variant,,ENST00000602791,;	T	ENST00000458128	Transcript	missense_variant	88/765	88/765	30/254	L/M	Ctg/Atg		1		-1	PGAM4	HGNC	HGNC:21731	protein_coding	YES	CCDS35338.1	ENSP00000412189	Q8N0Y7		UPI0000131CD2	NM_001029891.2	deleterious(0)		1/1		HAMAP:MF_01039,hmmpanther:PTHR11931:SF14,hmmpanther:PTHR11931,Gene3D:3.40.50.1240,Pfam_domain:PF00300,TIGRFAM_domain:TIGR01258,SMART_domains:SM00855,Superfamily_domains:SSF53254																	MODERATE		SNV				1										PASS		.	.												T	3	4	42	77969551	77969551	G	T	1	0	0	0	0	1	0	0	0	11865	933	33	2		2	PGAM4	23	77969551	Missense_Mutation	SNP	G	C3N-00203_TP	3665032	77969551	78071344	477	12425											
DACH2	0	.	GRCh38	chrX	86148981	86148981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagactggatatatcccccGtggtgtgtactgttgagcag	9	11	13	8	1	0	2	0	1	0	1	1	4	1	3	2	2	2	3	2	2	3	4	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.361G>A	p.Val121Met	p.V121M	ENST00000373125	1/12	159	142	17	72	72	0	strelka-varscan-mutect	DACH2,missense_variant,p.Val121Met,ENST00000373131,NM_001139514.1;DACH2,missense_variant,p.Val121Met,ENST00000373125,NM_053281.3;DACH2,missense_variant,p.Val121Met,ENST00000461604,;DACH2,missense_variant,p.Val121Met,ENST00000506327,;	A	ENST00000373125	Transcript	missense_variant	361/2232	361/1800	121/599	V/M	Gtg/Atg		1		1	DACH2	HGNC	HGNC:16814	protein_coding	YES	CCDS14455.1	ENSP00000362217	Q96NX9		UPI00000717B4	NM_053281.3	deleterious(0)		1/12		Gene3D:3.10.260.20,Pfam_domain:PF02437,hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF7,Superfamily_domains:SSF46955																	MODERATE	1	SNV	1			1										PASS		rs1184913396	.												A	3	1	42	86148981	86148981	G	A	1	0	0	0	0	1	0	0	0	4022	1145	40	1		1	DACH2	23	86148981	Missense_Mutation	SNP	G	C3N-00203_TP	8179430	86148981	69891914	478	12426											
DRP2	0	.	GRCh38	chrX	101258409	101258409	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcagcaacagaccacCgcaatgaggagcttctggcc	11	5	12	13	1	1	3	0	2	1	1	1	4	1	4	3	3	3	4	3	3	2	1	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.2491C>A	p.Arg831Ser	p.R831S	ENST00000395209	22/24	532	117	415	161	161	0	strelka-varscan-mutect	DRP2,missense_variant,p.Arg831Ser,ENST00000395209,NM_001939.2;DRP2,missense_variant,p.Arg831Ser,ENST00000402866,;DRP2,missense_variant,p.Arg831Ser,ENST00000538510,;DRP2,missense_variant,p.Arg753Ser,ENST00000541709,NM_001171184.1;	A	ENST00000395209	Transcript	missense_variant	3018/7277	2491/2874	831/957	R/S	Cgc/Agc		1		1	DRP2	HGNC	HGNC:3032	protein_coding	YES	CCDS14480.2	ENSP00000378635	Q13474	A0A024RCH3	UPI000013D388	NM_001939.2	tolerated(0.17)		22/24		hmmpanther:PTHR11915,PIRSF_domain:PIRSF038205																	MODERATE	1	SNV	1			1										PASS		rs1333006621	.												A	3	1	42	101258409	101258409	C	A	1	0	0	0	0	1	0	0	0	4585	652	23	1		1	DRP2	23	101258409	Missense_Mutation	SNP	C	C3N-00203_TP	15109428	101258409	54782486	479	12427											
ZMAT1	0	.	GRCh38	chrX	101884658	101884658	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctggaatcgaccacttCtctgtatctacgggtttcca	7	13	10	11	2	3	0	0	0	3	0	6	2	4	1	2	3	1	2	2	3	3	4			C3N-00203_TP	C3N-00203_NB	C	C																c.769G>T	p.Glu257Ter	p.E257*	ENST00000372782	7/7	461	397	64	157	157	0	strelka-varscan-mutect	ZMAT1,stop_gained,p.Glu257Ter,ENST00000372782,NM_001011657.3;ZMAT1,stop_gained,p.Glu257Ter,ENST00000540921,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000494068,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000458570,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000488347,;ZMAT1,downstream_gene_variant,,ENST00000490757,;	A	ENST00000372782	Transcript	stop_gained	817/3185	769/1917	257/638	E/*	Gaa/Taa	COSM1112027,COSM1112028	1		-1	ZMAT1	HGNC	HGNC:29377	protein_coding	YES	CCDS35348.1	ENSP00000361868	Q5H9K5		UPI0001DD37FB	NM_001011657.3			7/7													1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												A	4	1	42	101884658	101884658	C	A	1	0	0	0	0	0	1	0	0	18271	922	32	2		2	ZMAT1	23	101884658	Nonsense_Mutation	SNP	C	C3N-00203_TP	626249	101884658	54156237	480	12428											
GPRASP1	0	.	GRCh38	chrX	102654110	102654110	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctggagcaagcaccaaagTtgagacaagtgcagtgggtg	12	6	15	8	0	0	1	0	1	0	1	0	3	0	2	2	2	3	4	2	2	3	1	novel		C3N-00203_TP	C3N-00203_NB	T	T																c.197T>A	p.Val66Asp	p.V66D	ENST00000537097	6/6	123	82	41	94	94	0	strelka-varscan-mutect	GPRASP1,missense_variant,p.Val66Asp,ENST00000537097,NM_001184727.1;GPRASP1,missense_variant,p.Val66Asp,ENST00000361600,NM_014710.4;GPRASP1,missense_variant,p.Val66Asp,ENST00000415986,NM_001099410.1;GPRASP1,missense_variant,p.Val66Asp,ENST00000444152,NM_001099411.1;RP4-769N13.7,intron_variant,,ENST00000602441,;ARMCX5-GPRASP2,intron_variant,,ENST00000486740,;ARMCX5-GPRASP2,intron_variant,,ENST00000602366,;ARMCX5-GPRASP2,intron_variant,,ENST00000602463,;ARMCX5-GPRASP2,downstream_gene_variant,,ENST00000466616,;GPRASP1,downstream_gene_variant,,ENST00000466098,;	A	ENST00000537097	Transcript	missense_variant	1010/5980	197/4188	66/1395	V/D	gTt/gAt		1		1	GPRASP1	HGNC	HGNC:24834	protein_coding	YES	CCDS35352.1	ENSP00000445683	Q5JY77		UPI0000073B80	NM_001184727.1	deleterious(0.01)		6/6		hmmpanther:PTHR15712:SF22,hmmpanther:PTHR15712																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	42	102654110	102654110	T	A	1	0	0	0	0	1	0	0	0	6601	1725	60	4		4	GPRASP1	23	102654110	Missense_Mutation	SNP	T	C3N-00203_TP	769452	102654110	53386785	481	12429											
GLRA4	0	.	GRCh38	chrX	103719246	103719246	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgccgttccaggtgaaaCtttacctcgatgcaggtgaa	10	11	10	10	2	1	2	0	2	1	0	3	3	2	2	3	2	4	2	3	2	3	3	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.744G>C	p.Lys248Asn	p.K248N	ENST00000372617	7/9	90	34	56	55	55	0	strelka-varscan-mutect	GLRA4,missense_variant,p.Lys248Asn,ENST00000372617,NM_001024452.2;GLRA4,downstream_gene_variant,,ENST00000469567,;GLRA4,non_coding_transcript_exon_variant,,ENST00000480725,;GLRA4,intron_variant,,ENST00000436213,;	G	ENST00000372617	Transcript	missense_variant	1165/1795	744/1254	248/417	K/N	aaG/aaC		1		-1	GLRA4	HGNC	HGNC:31715	protein_coding	YES	CCDS43980.2	ENSP00000361700	Q5JXX5		UPI000188140C	NM_001024452.2	tolerated(0.19)		7/9		hmmpanther:PTHR18945:SF211,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932																	MODERATE	1	SNV	5			1										PASS		rs1309556677	.												G	3	3	42	103719246	103719246	C	G	1	0	0	0	0	1	0	0	0	6336	564	20	4		4	GLRA4	23	103719246	Missense_Mutation	SNP	C	C3N-00203_TP	1065136	103719246	52321649	482	12430											
RGAG1	0	.	GRCh38	chrX	110452708	110452708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgtccatgccactaatGagagctcaagacccaggagt	12	7	12	10	0	1	2	1	1	0	2	2	5	2	4	3	2	2	1	3	2	2	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.2091G>T	p.Met697Ile	p.M697I	ENST00000465301	3/4	278	198	80	155	155	0	strelka-varscan-mutect	RGAG1,missense_variant,p.Met697Ile,ENST00000465301,NM_020769.2;RGAG1,missense_variant,p.Met697Ile,ENST00000540313,;RGAG1,downstream_gene_variant,,ENST00000520821,;	T	ENST00000465301	Transcript	missense_variant	2337/5426	2091/4167	697/1388	M/I	atG/atT		1		1	RGAG1	HGNC	HGNC:29245	protein_coding	YES	CCDS14552.1	ENSP00000419786	Q8NET4		UPI000006F841	NM_020769.2	tolerated(0.19)		3/4		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF48																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	42	110452708	110452708	G	T	1	0	0	0	0	1	0	0	0	13446	1290	45	2		2	RGAG1	23	110452708	Missense_Mutation	SNP	G	C3N-00203_TP	6733462	110452708	45588187	483	12431											
SMARCA1	0	.	GRCh38	chrX	129515758	129515758	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaattcagtcctcgaatctGataatctctcagtggccccc	9	11	6	15	1	4	1	2	1	2	0	7	2	5	1	4	1	0	0	4	1	3	2	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.559C>G	p.Gln187Glu	p.Q187E	ENST00000371121	5/25	284	103	181	178	178	0	strelka-varscan-mutect	SMARCA1,missense_variant,p.Gln187Glu,ENST00000371122,NM_003069.4;SMARCA1,missense_variant,p.Gln187Glu,ENST00000371123,NM_001282875.1;SMARCA1,missense_variant,p.Gln187Glu,ENST00000371121,NM_001282874.1;SNORD112,upstream_gene_variant,,ENST00000516361,;SMARCA1,non_coding_transcript_exon_variant,,ENST00000478420,;SMARCA1,non_coding_transcript_exon_variant,,ENST00000617310,;	C	ENST00000371121	Transcript	missense_variant	594/3564	559/3213	187/1070	Q/E	Cag/Gag		1		-1	SMARCA1	HGNC	HGNC:11097	protein_coding	YES	CCDS76019.1	ENSP00000360162		B7ZLQ5	UPI00004258DE	NM_001282874.1	deleterious(0)		5/25		hmmpanther:PTHR10799:SF691,hmmpanther:PTHR10799,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	42	129515758	129515758	G	C	1	0	0	0	0	1	0	0	0	15061	1299	45	4		4	SMARCA1	23	129515758	Missense_Mutation	SNP	G	C3N-00203_TP	19063050	129515758	26525137	484	12432											
F9	0	.	GRCh38	chrX	139551218	139551218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatttaatgacttcactcGggttgttggtggagaagatg	10	14	12	5	1	2	3	2	1	0	2	3	4	2	3	0	3	0	2	0	3	2	5	rs137852241		C3N-00203_TP	C3N-00203_NB	G	G																c.677G>T	p.Arg226Leu	p.R226L	ENST00000218099	6/8	342	141	201	213	213	0	strelka-varscan-mutect	F9,missense_variant,p.Arg226Leu,ENST00000218099,NM_000133.3;F9,missense_variant,p.Arg188Leu,ENST00000394090,;F9,downstream_gene_variant,,ENST00000479617,;	T	ENST00000218099	Transcript	missense_variant	684/2780	677/1386	226/461	R/L	cGg/cTg	rs137852241,CM940541,CM940542,CM940543,COSM1556441	1		1	F9	HGNC	HGNC:3551	protein_coding	YES	CCDS14666.1	ENSP00000218099	P00740		UPI000002BA13	NM_000133.3	deleterious(0)		6/8		PIRSF_domain:PIRSF001143,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF135,SMART_domains:SM00020,Superfamily_domains:SSF50494										pathogenic	0,0,0,0,1						MODERATE	1	SNV	1		1,1,1,1,1	1										PASS		rs137852241	.												T	3	4	42	139551218	139551218	G	T	1	0	0	0	0	1	0	0	0	5220	1116	39	1		1	F9	23	139551218	Missense_Mutation	SNP	G	C3N-00203_TP	10035460	139551218	16489677	485	12433											
MAGEC1	0	.	GRCh38	chrX	141906939	141906939	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgagggttttccccagtCtcctctccagattcctcaga	6	15	7	13	0	3	3	1	1	2	2	7	3	5	3	5	1	0	1	5	1	0	5	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1535C>A	p.Ser512Tyr	p.S512Y	ENST00000285879	4/4	237	169	68	151	151	0	strelka-varscan-mutect	MAGEC1,missense_variant,p.Ser512Tyr,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,;	A	ENST00000285879	Transcript	missense_variant	1821/4270	1535/3429	512/1142	S/Y	tCt/tAt		1		1	MAGEC1	HGNC	HGNC:6812	protein_coding	YES	CCDS35417.1	ENSP00000285879	O60732		UPI000006F2FD	NM_005462.4	deleterious_low_confidence(0)		4/4		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	42	141906939	141906939	C	A	1	0	0	0	0	1	0	0	0	9098	913	32	2		2	MAGEC1	23	141906939	Missense_Mutation	SNP	C	C3N-00203_TP	2355721	141906939	14133956	486	12434											
MAGEA6	0	.	GRCh38	chrX	152767355	152767355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaactcagactccaggtcaGggaaggtgcttggcccctcc	8	7	13	13	0	2	1	2	0	0	1	4	3	4	3	4	5	2	1	4	5	2	1	novel		C3N-00203_TP	C3N-00203_NB	G	G																c.296C>A	p.Pro99His	p.P99H	ENST00000616035	3/3	323	139	184	190	190	0	strelka-varscan-mutect	MAGEA6,missense_variant,p.Pro99His,ENST00000616035,NM_175868.1;MAGEA6,missense_variant,p.Pro99His,ENST00000329342,NM_005363.2;MAGEA6,missense_variant,p.Pro99His,ENST00000457643,;MAGEA6,missense_variant,p.Pro99His,ENST00000412733,;	T	ENST00000616035	Transcript	missense_variant	554/1762	296/945	99/314	P/H	cCt/cAt		1		-1	MAGEA6	HGNC	HGNC:6804	protein_coding	YES	CCDS76050.1	ENSP00000480637	P43360		UPI000000D9B0	NM_175868.1	deleterious(0)		3/3		hmmpanther:PTHR11736:SF60,hmmpanther:PTHR11736																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	42	152767355	152767355	G	T	1	0	0	0	0	1	0	0	0	9085	1000	35	2		2	MAGEA6	23	152767355	Missense_Mutation	SNP	G	C3N-00203_TP	10860416	152767355	3273540	487	12435											
HCFC1	0	.	GRCh38	chrX	153957384	153957384	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtggtcgtgccgggcttGgtggtactgggggagacgct	4	10	20	7	3	0	1	0	0	0	1	1	2	0	1	1	7	2	3	1	7	1	2	rs2071134		C3N-00203_TP	C3N-00203_NB	G	G																c.2283C>T	p.=	p.T761T	ENST00000310441	13/26	72	49	23	29	29	0	strelka-varscan-mutect	HCFC1,synonymous_variant,p.=,ENST00000310441,NM_005334.2;HCFC1,synonymous_variant,p.=,ENST00000369984,;HCFC1,upstream_gene_variant,,ENST00000444191,;HCFC1,downstream_gene_variant,,ENST00000461098,;	A	ENST00000310441	Transcript	synonymous_variant	3250/8869	2283/6108	761/2035	T	acC/acT	rs2071134	1		-1	HCFC1	HGNC	HGNC:4839	protein_coding	YES	CCDS44020.1	ENSP00000309555	P51610		UPI0000142F1F	NM_005334.2			13/26		Low_complexity_(Seg):seg												18520591					LOW	1	SNV	1		1	1										PASS		rs2071134	.												A	2	1	42	153957384	153957384	G	A	1	0	0	0	0	0	0	0	1	6879	1335	47	3		3	HCFC1	23	153957384	Silent	SNP	G	C3N-00203_TP	1190029	153957384	2083511	488	12436											
IL9R	0	.	GRCh38	chrX	156002886	156002886	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgatttgcacagggccCtcagcccagtcccttgcagg	7	8	13	13	0	1	1	1	1	0	0	2	2	2	2	3	3	3	2	3	3	0	2	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.150C>A	p.=	p.P50P	ENST00000369423	3/9	253	154	99	180	180	0	strelka-varscan-mutect	IL9R,synonymous_variant,p.=,ENST00000369423,NM_176786.1;IL9R,intron_variant,,ENST00000244174,NM_002186.2;IL9R,intron_variant,,ENST00000489233,;IL9R,upstream_gene_variant,,ENST00000494962,;AJ271736.10,upstream_gene_variant,,ENST00000483543,;	A	ENST00000369423	Transcript	synonymous_variant	188/2032	150/1029	50/342	P	ccC/ccA		1		1	IL9R	HGNC	HGNC:6030	protein_coding		CCDS59180.1	ENSP00000358431	Q01113		UPI00001AF535	NM_176786.1			3/9																			LOW		SNV	1			1										PASS		.	.												A	2	1	42	156002886	156002886	C	A	1	0	0	0	0	0	0	0	1	7611	695	24	2		2	IL9R	23	156002886	Silent	SNP	C	C3N-00203_TP	2045502	156002886	38009	489	12437											
KDM5D	0	.	GRCh38	chrY	19716374	19716374	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagattgagatccaacgtctCtgggaaggcagccatcttgc	10	10	11	10	1	2	2	0	1	2	2	4	4	3	3	2	2	3	1	2	2	3	3	novel		C3N-00203_TP	C3N-00203_NB	C	C																c.1936G>T	p.Glu646Ter	p.E646*	ENST00000317961	15/27	245	128	117	222	222	0	strelka-varscan-mutect	KDM5D,stop_gained,p.Glu677Ter,ENST00000541639,NM_001146705.1;KDM5D,stop_gained,p.Glu646Ter,ENST00000317961,NM_004653.4;KDM5D,stop_gained,p.Glu589Ter,ENST00000382806,NM_001146706.1;KDM5D,stop_gained,p.Glu605Ter,ENST00000440077,;KDM5D,downstream_gene_variant,,ENST00000447300,;KDM5D,non_coding_transcript_exon_variant,,ENST00000469599,;KDM5D,non_coding_transcript_exon_variant,,ENST00000492117,;KDM5D,upstream_gene_variant,,ENST00000478891,;	A	ENST00000317961	Transcript	stop_gained	2208/5472	1936/4620	646/1539	E/*	Gag/Tag		1		-1	KDM5D	HGNC	HGNC:11115	protein_coding	YES	CCDS14794.1	ENSP00000322408	Q9BY66		UPI0000135A93	NM_004653.4			15/27		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF47																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	42	19716374	19716374	C	A	1	0	0	0	0	0	1	0	0	8054	922	32	2		2	KDM5D	24	19716374	Nonsense_Mutation	SNP	C	C3N-00203_TP		19716374	37511041	490	12438											
CHD5	0	.	GRCh38	chr1	6109909	6109909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcgttgagggccatggCggggtggttggggtcctgcg	2	8	23	8	4	0	1	0	1	0	0	1	1	1	1	2	8	1	2	2	8	0	2	rs373083783		C3N-00217_TP	C3N-00217_NB	C	C																c.5464G>A	p.Ala1822Thr	p.A1822T	ENST00000262450	38/42	98	90	8	82	82	0	strelka-varscan-mutect	CHD5,missense_variant,p.Ala1822Thr,ENST00000262450,NM_015557.2;CHD5,upstream_gene_variant,,ENST00000475121,;CHD5,3_prime_UTR_variant,,ENST00000496404,;CHD5,3_prime_UTR_variant,,ENST00000462991,;CHD5,3_prime_UTR_variant,,ENST00000377999,;	T	ENST00000262450	Transcript	missense_variant	5564/9646	5464/5865	1822/1954	A/T	Gcc/Acc	rs373083783,COSM2237724,COSM4239989	1		-1	CHD5	HGNC	HGNC:16816	protein_coding	YES	CCDS57.1	ENSP00000262450	Q8TDI0		UPI000006CD03	NM_015557.2	deleterious(0.04)		38/42		Pfam_domain:PF08074											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs373083783	.												T	3	4	43	6109909	6109909	C	T	1	0	0	0	0	1	0	0	0	3087	768	27	1		1	CHD5	1	6109909	Missense_Mutation	SNP	C	C3N-00217_TP		6109909	242846513	1	12439											
DISP3	0	.	GRCh38	chr1	11519447	11519447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaggcagccctgcccaggGccccataccctacctggatg	7	6	12	16	0	0	0	0	0	0	0	0	2	0	2	6	4	4	1	6	4	2	2	rs2072993		C3N-00217_TP	C3N-00217_NB	G	G																c.1982G>A	p.Gly661Asp	p.G661D	ENST00000294484	8/21	227	161	66	215	215	0	strelka-varscan-mutect	DISP3,missense_variant,p.Gly661Asp,ENST00000294484,NM_020780.1;	A	ENST00000294484	Transcript	missense_variant	2120/5215	1982/4179	661/1392	G/D	gGc/gAc	rs2072993	1		1	DISP3	HGNC	HGNC:29251	protein_coding	YES	CCDS41247.1	ENSP00000294484	Q9P2K9		UPI00001C1D7A	NM_020780.1	tolerated(0.22)		8/21																			MODERATE	1	SNV	1			1										PASS		rs1449766920	.												A	3	1	43	11519447	11519447	G	A	1	0	0	0	0	1	0	0	0	4347	1203	42	3		3	DISP3	1	11519447	Missense_Mutation	SNP	G	C3N-00217_TP	5409538	11519447	237436975	2	12440											
CLCN6	0	.	GRCh38	chr1	11807152	11807152	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatccttggagaaacacagGaggaggaggatgagattctt	13	8	13	7	0	1	2	0	1	1	2	2	8	2	6	2	5	1	0	2	5	1	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.109G>T	p.Glu37Ter	p.E37*	ENST00000346436	2/23	144	123	21	200	200	0	strelka-varscan-mutect	CLCN6,stop_gained,p.Glu37Ter,ENST00000312413,NM_001256959.1;CLCN6,stop_gained,p.Glu37Ter,ENST00000346436,NM_001286.3;CLCN6,stop_gained,p.Glu37Ter,ENST00000376496,;CLCN6,stop_gained,p.Glu37Ter,ENST00000376497,;MTHFR,upstream_gene_variant,,ENST00000376592,;MTHFR,upstream_gene_variant,,ENST00000376583,;MTHFR,upstream_gene_variant,,ENST00000376590,NM_005957.4;MTHFR,upstream_gene_variant,,ENST00000376585,;MTHFR,upstream_gene_variant,,ENST00000423400,;MTHFR,upstream_gene_variant,,ENST00000376486,;MTHFR,upstream_gene_variant,,ENST00000418034,;MTHFR,upstream_gene_variant,,ENST00000431243,;MTHFR,upstream_gene_variant,,ENST00000413656,;CLCN6,non_coding_transcript_exon_variant,,ENST00000376492,;CLCN6,non_coding_transcript_exon_variant,,ENST00000376490,;CLCN6,non_coding_transcript_exon_variant,,ENST00000376491,;	T	ENST00000346436	Transcript	stop_gained	161/5583	109/2610	37/869	E/*	Gag/Tag		1		1	CLCN6	HGNC	HGNC:2024	protein_coding	YES	CCDS138.1	ENSP00000234488	P51797		UPI000013F2D3	NM_001286.3			2/23		hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF59																	HIGH	1	SNV	1			1										PASS		rs1372498907	.												T	4	4	43	11807152	11807152	G	T	1	0	0	0	0	0	1	0	0	3231	1175	41	2		2	CLCN6	1	11807152	Nonsense_Mutation	SNP	G	C3N-00217_TP	287705	11807152	237149270	3	12441											
KIAA2013	0	.	GRCh38	chr1	11925989	11925989	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcactccaggacccagcggTaccacctcaccgcgctcccg	7	4	10	20	4	1	0	1	0	0	0	3	1	3	1	6	3	2	3	6	3	1	1	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.249A>G	p.=	p.V83V	ENST00000376572	1/3	247	213	34	251	251	0	strelka-varscan-mutect	KIAA2013,synonymous_variant,p.=,ENST00000376572,NM_138346.2;KIAA2013,synonymous_variant,p.=,ENST00000376576,;KIAA2013,synonymous_variant,p.=,ENST00000616327,;	C	ENST00000376572	Transcript	synonymous_variant	435/2815	249/1905	83/634	V	gtA/gtG		1		-1	KIAA2013	HGNC	HGNC:28513	protein_coding	YES	CCDS141.1	ENSP00000365756	Q8IYS2		UPI00000741FB	NM_138346.2			1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR31386:SF2,hmmpanther:PTHR31386,Pfam_domain:PF10222																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	43	11925989	11925989	T	C	1	0	0	0	0	0	0	0	1	8132	1625	57	5		5	KIAA2013	1	11925989	Silent	SNP	T	C3N-00217_TP	118837	11925989	237030433	4	12442											
PRAMEF8	0	.	GRCh38	chr1	13281816	13281816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggtcagcgtgacacccCtcaggtccagctcctttaat	9	10	9	13	1	2	1	2	1	0	0	4	1	4	1	4	2	2	1	4	2	2	2	rs150974181		C3N-00217_TP	C3N-00217_NB	C	C																c.980G>T	p.Arg327Met	p.R327M	ENST00000357367	4/4	535	397	138	470	470	0	strelka-varscan-mutect	PRAMEF8,missense_variant,p.Arg327Met,ENST00000357367,NM_001012276.3;PRAMEF8,missense_variant,p.Arg327Met,ENST00000621519,;PRAMEF8,missense_variant,p.Arg327Met,ENST00000614831,;RNU6-443P,upstream_gene_variant,,ENST00000384780,;	A	ENST00000357367	Transcript	missense_variant	1063/1844	980/1425	327/474	R/M	aGg/aTg	rs150974181	1		-1	PRAMEF8	HGNC	HGNC:24074	protein_coding	YES	CCDS72709.1	ENSP00000349931	Q5VWM4		UPI000191706C	NM_001012276.3	deleterious(0.03)		4/4		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		rs1325969803	.												A	3	1	43	13281816	13281816	C	A	1	0	0	0	0	1	0	0	0	12570	681	24	2		2	PRAMEF8	1	13281816	Missense_Mutation	SNP	C	C3N-00217_TP	1355827	13281816	235674606	5	12443											
PRAMEF8	0	.	GRCh38	chr1	13283962	13283962	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcacagcgtctcctgctgaAggcctccatgaacagtgtgg	8	10	11	12	1	2	2	1	2	1	0	4	2	3	2	3	2	3	1	3	2	2	1	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.130T>A	p.Phe44Ile	p.F44I	ENST00000357367	2/4	482	389	93	491	490	1	strelka-varscan-mutect	PRAMEF8,missense_variant,p.Phe44Ile,ENST00000357367,NM_001012276.3;PRAMEF8,missense_variant,p.Phe44Ile,ENST00000621519,;PRAMEF8,missense_variant,p.Phe44Ile,ENST00000614831,;RNU6-443P,upstream_gene_variant,,ENST00000384780,;	T	ENST00000357367	Transcript	missense_variant	213/1844	130/1425	44/474	F/I	Ttc/Atc		1		-1	PRAMEF8	HGNC	HGNC:24074	protein_coding	YES	CCDS72709.1	ENSP00000349931	Q5VWM4		UPI000191706C	NM_001012276.3	deleterious(0.04)		2/4		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30,PIRSF_domain:PIRSF038286																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	13283962	13283962	A	T	1	0	0	0	0	1	0	0	0	12570	72	3	4		4	PRAMEF8	1	13283962	Missense_Mutation	SNP	A	C3N-00217_TP	2146	13283962	235672460	6	12444											
CROCC	0	.	GRCh38	chr1	16936737	16936737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacggctggcagagagccggGccgaggcagccctggagaaa	10	3	17	11	3	0	2	0	0	0	2	0	5	0	2	3	5	3	3	3	5	2	1	rs759919596		C3N-00217_TP	C3N-00217_NB	G	G																c.1057G>T	p.Ala353Ser	p.A353S	ENST00000375541	9/37	252	221	31	216	216	0	strelka-varscan-mutect	CROCC,missense_variant,p.Ala353Ser,ENST00000375541,NM_014675.4;CROCC,missense_variant,p.Ala213Ser,ENST00000445545,;CROCC,missense_variant,p.Ala247Ser,ENST00000467938,;CROCC,upstream_gene_variant,,ENST00000467715,;CROCC,non_coding_transcript_exon_variant,,ENST00000466256,;CROCC,intron_variant,,ENST00000492631,;CROCC,upstream_gene_variant,,ENST00000494191,;	T	ENST00000375541	Transcript	missense_variant	1126/6656	1057/6054	353/2017	A/S	Gcc/Tcc	rs759919596	1		1	CROCC	HGNC	HGNC:21299	protein_coding	YES	CCDS30616.1	ENSP00000364691	Q5TZA2		UPI000042B0BB	NM_014675.4	tolerated(0.27)		9/37		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF17,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs759919596	.												T	3	4	43	16936737	16936737	G	T	1	0	0	0	0	1	0	0	0	3694	1203	42	2		2	CROCC	1	16936737	Missense_Mutation	SNP	G	C3N-00217_TP	3652775	16936737	232019685	7	12445											
FAM46B	0	.	GRCh38	chr1	27006309	27006309	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagaagcgggagcacaTgtagcgctgcagggcgcgca	11	4	17	9	4	0	2	0	1	0	1	0	4	0	3	0	2	4	5	0	2	3	1	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.913A>C	p.Met305Leu	p.M305L	ENST00000289166	2/2	110	86	24	89	89	0	strelka-varscan-mutect	FAM46B,missense_variant,p.Met305Leu,ENST00000289166,NM_052943.3;	G	ENST00000289166	Transcript	missense_variant	1079/2368	913/1278	305/425	M/L	Atg/Ctg		1		-1	FAM46B	HGNC	HGNC:28273	protein_coding	YES	CCDS294.2	ENSP00000289166	Q96A09		UPI0000374A6A	NM_052943.3	deleterious(0)		2/2		Pfam_domain:PF07984,hmmpanther:PTHR12974,hmmpanther:PTHR12974:SF46,SMART_domains:SM01153																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	27006309	27006309	T	G	1	0	0	0	0	1	0	0	0	5444	1464	51	5		5	FAM46B	1	27006309	Missense_Mutation	SNP	T	C3N-00217_TP	10069572	27006309	221950113	8	12446											
SPOCD1	0	.	GRCh38	chr1	31796595	31796595	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctccaacttaaccaccaGatcctccagggtcagtgtct	10	9	8	14	0	2	1	1	0	1	1	5	1	5	1	5	2	2	1	5	2	2	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.2266C>T	p.=	p.L756L	ENST00000360482	10/16	558	291	267	411	411	0	strelka-varscan-mutect	SPOCD1,splice_region_variant,p.=,ENST00000452755,;SPOCD1,synonymous_variant,p.=,ENST00000360482,NM_144569.5;SPOCD1,synonymous_variant,p.=,ENST00000533231,NM_001281987.1;SPOCD1,synonymous_variant,p.=,ENST00000257100,NM_001281988.1;SPOCD1,intron_variant,,ENST00000528579,;SPOCD1,downstream_gene_variant,,ENST00000529396,;SPOCD1,downstream_gene_variant,,ENST00000528791,;SPOCD1,downstream_gene_variant,,ENST00000525930,;SPOCD1,non_coding_transcript_exon_variant,,ENST00000485944,;SPOCD1,non_coding_transcript_exon_variant,,ENST00000468720,;SPOCD1,non_coding_transcript_exon_variant,,ENST00000460061,;SPOCD1,non_coding_transcript_exon_variant,,ENST00000531039,;SPOCD1,intron_variant,,ENST00000473361,;SPOCD1,intron_variant,,ENST00000532604,;	A	ENST00000360482	Transcript	synonymous_variant	2396/3960	2266/3651	756/1216	L	Ctg/Ttg		1		-1	SPOCD1	HGNC	HGNC:26338	protein_coding	YES	CCDS347.1	ENSP00000353670	Q6ZMY3		UPI000035E7DD	NM_144569.5			10/16		hmmpanther:PTHR11477:SF18,hmmpanther:PTHR11477																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	43	31796595	31796595	G	A	1	0	0	0	0	0	0	0	1	15431	956	33	3		3	SPOCD1	1	31796595	Silent	SNP	G	C3N-00217_TP	4790286	31796595	217159827	9	12447											
AGO1	0	.	GRCh38	chr1	35906956	35906956	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacttcacagaccagctgcgGaagatttccaaggatgcggg	12	7	12	10	2	1	2	1	0	0	2	2	4	2	4	2	3	4	1	2	3	3	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1419G>T	p.=	p.R473R	ENST00000373204	12/19	86	81	5	73	73	0	strelka-varscan-mutect	AGO1,synonymous_variant,p.=,ENST00000373204,NM_012199.2;AGO1,synonymous_variant,p.=,ENST00000373206,;AGO1,3_prime_UTR_variant,,ENST00000635259,;	T	ENST00000373204	Transcript	synonymous_variant	1632/13708	1419/2574	473/857	R	cgG/cgT		1		1	AGO1	HGNC	HGNC:3262	protein_coding	YES	CCDS398.1	ENSP00000362300	Q9UL18		UPI000012D07D	NM_012199.2			12/19		hmmpanther:PTHR22891:SF17,hmmpanther:PTHR22891,Gene3D:3.40.50.2300,Pfam_domain:PF16487																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	35906956	35906956	G	T	1	0	0	0	0	0	0	0	1	464	1161	41	2		2	AGO1	1	35906956	Silent	SNP	G	C3N-00217_TP	4110361	35906956	213049466	10	12448											
EPHA10	0	.	GRCh38	chr1	37761756	37761756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcttcatcttgcgctcacCcaggtcgccctgcgtgaagc	6	9	10	16	3	3	1	2	1	1	0	4	1	3	1	2	1	4	2	2	1	1	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.499G>T	p.Gly167Cys	p.G167C	ENST00000373048	3/17	185	95	90	118	118	0	strelka-varscan-mutect	EPHA10,missense_variant,p.Gly167Cys,ENST00000373048,NM_001099439.1;EPHA10,missense_variant,p.Gly167Cys,ENST00000427468,;EPHA10,missense_variant,p.Gly167Cys,ENST00000319637,NM_173641.2;	A	ENST00000373048	Transcript	missense_variant	499/5425	499/3027	167/1008	G/C	Ggt/Tgt		1		-1	EPHA10	HGNC	HGNC:19987	protein_coding	YES	CCDS41305.1	ENSP00000362139	Q5JZY3		UPI00001A41BD	NM_001099439.1	deleterious(0)		3/17		Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF258,SMART_domains:SM00615,Superfamily_domains:SSF49785																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	43	37761756	37761756	C	A	1	0	0	0	0	1	0	0	0	5013	623	22	2		2	EPHA10	1	37761756	Missense_Mutation	SNP	C	C3N-00217_TP	1854800	37761756	211194666	11	12449											
MUTYH	0	.	GRCh38	chr1	45332241	45332241	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggggtacacactgtggcCcctagctccatggctgcttg	5	11	13	12	0	0	0	0	0	0	0	1	0	1	0	3	4	3	4	3	4	2	3	rs771290019		C3N-00217_TP	C3N-00217_NB	C	C																c.849G>T	p.=	p.G283G	ENST00000372098	10/16	485	395	90	522	522	0	strelka-varscan-mutect	MUTYH,synonymous_variant,p.=,ENST00000450313,NM_001128425.1;MUTYH,synonymous_variant,p.=,ENST00000372115,NM_001048171.1;MUTYH,synonymous_variant,p.=,ENST00000372098,NM_012222.2;MUTYH,synonymous_variant,p.=,ENST00000372104,NM_001293195.1;MUTYH,synonymous_variant,p.=,ENST00000372110,NM_001293190.1;MUTYH,synonymous_variant,p.=,ENST00000355498,NM_001293196.1,NM_001293192.1,NM_001048173.1;MUTYH,synonymous_variant,p.=,ENST00000354383,NM_001048172.1;MUTYH,synonymous_variant,p.=,ENST00000448481,NM_001293191.1;MUTYH,synonymous_variant,p.=,ENST00000456914,NM_001048174.1;MUTYH,synonymous_variant,p.=,ENST00000528013,;MUTYH,synonymous_variant,p.=,ENST00000435155,;MUTYH,synonymous_variant,p.=,ENST00000412971,;MUTYH,synonymous_variant,p.=,ENST00000529892,;MUTYH,intron_variant,,ENST00000529984,;MUTYH,intron_variant,,ENST00000488731,;MUTYH,intron_variant,,ENST00000531105,;HPDL,downstream_gene_variant,,ENST00000334815,NM_032756.2;MUTYH,downstream_gene_variant,,ENST00000483127,;MUTYH,synonymous_variant,p.=,ENST00000467459,;MUTYH,3_prime_UTR_variant,,ENST00000481571,;MUTYH,3_prime_UTR_variant,,ENST00000475516,;MUTYH,3_prime_UTR_variant,,ENST00000533178,;MUTYH,3_prime_UTR_variant,,ENST00000467940,;MUTYH,3_prime_UTR_variant,,ENST00000461495,;MUTYH,3_prime_UTR_variant,,ENST00000470256,;MUTYH,non_coding_transcript_exon_variant,,ENST00000462388,;MUTYH,non_coding_transcript_exon_variant,,ENST00000478796,;MUTYH,non_coding_transcript_exon_variant,,ENST00000466231,;MUTYH,downstream_gene_variant,,ENST00000483642,;MUTYH,downstream_gene_variant,,ENST00000481139,;MUTYH,downstream_gene_variant,,ENST00000492494,;MUTYH,downstream_gene_variant,,ENST00000479746,;MUTYH,downstream_gene_variant,,ENST00000476789,;MUTYH,upstream_gene_variant,,ENST00000482094,;MUTYH,downstream_gene_variant,,ENST00000462387,;MUTYH,downstream_gene_variant,,ENST00000485484,;MUTYH,downstream_gene_variant,,ENST00000534453,;MUTYH,downstream_gene_variant,,ENST00000525160,;MUTYH,downstream_gene_variant,,ENST00000474703,;MUTYH,upstream_gene_variant,,ENST00000485271,;	A	ENST00000372098	Transcript	synonymous_variant	983/1839	849/1641	283/546	G	ggG/ggT	rs771290019	1		-1	MUTYH	HGNC	HGNC:7527	protein_coding	YES	CCDS520.1	ENSP00000361170	Q9UIF7	E5KP26	UPI000006EB4F	NM_012222.2			10/16		hmmpanther:PTHR10359,Gene3D:1.10.1670.10,SMART_domains:SM00478,Superfamily_domains:SSF48150																	LOW	1	SNV	1			1										PASS		rs771290019	.												A	2	1	43	45332241	45332241	C	A	1	0	0	0	0	0	0	0	1	9990	610	22	2		2	MUTYH	1	45332241	Silent	SNP	C	C3N-00217_TP	7570485	45332241	203624181	12	12450											
FAM151A	0	.	GRCh38	chr1	54611726	54611726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggggtccgaggcagcctGccacagcgtcaggctgtacc	7	6	14	14	2	1	0	1	0	0	0	2	1	2	0	4	4	4	3	4	4	1	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.820C>A	p.Gln274Lys	p.Q274K	ENST00000302250	6/8	136	107	29	121	121	0	strelka-varscan-mutect	FAM151A,missense_variant,p.Gln274Lys,ENST00000302250,NM_176782.2;FAM151A,missense_variant,p.Gln274Lys,ENST00000371304,;ACOT11,intron_variant,,ENST00000371316,NM_015547.3;ACOT11,downstream_gene_variant,,ENST00000343744,NM_147161.3;ACOT11,downstream_gene_variant,,ENST00000481208,;	T	ENST00000302250	Transcript	missense_variant	981/2005	820/1758	274/585	Q/K	Cag/Aag		1		-1	FAM151A	HGNC	HGNC:25032	protein_coding	YES	CCDS594.1	ENSP00000306888	Q8WW52		UPI000003776D	NM_176782.2	deleterious(0)		6/8		Pfam_domain:PF10223,hmmpanther:PTHR21184,hmmpanther:PTHR21184:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	54611726	54611726	G	T	1	0	0	0	0	1	0	0	0	5308	1328	46	2		2	FAM151A	1	54611726	Missense_Mutation	SNP	G	C3N-00217_TP	9279485	54611726	194344696	13	12451											
MROH7	0	.	GRCh38	chr1	54701253	54701253	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggctgtcttcaaggggcgGgaccagaagctgatggacag	11	6	16	8	1	2	2	1	1	1	1	2	4	2	4	1	5	1	2	1	5	3	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3216G>T	p.=	p.R1072R	ENST00000421030	19/24	80	70	10	82	82	0	strelka-varscan-mutect	MROH7,synonymous_variant,p.=,ENST00000421030,NM_001039464.3;MROH7,synonymous_variant,p.=,ENST00000409996,NM_001291332.1;MROH7,downstream_gene_variant,,ENST00000339553,;MROH7,downstream_gene_variant,,ENST00000395690,;MROH7-TTC4,synonymous_variant,p.=,ENST00000414150,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000425300,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000606515,;MROH7,3_prime_UTR_variant,,ENST00000413188,;MROH7,3_prime_UTR_variant,,ENST00000422659,;MROH7,3_prime_UTR_variant,,ENST00000440047,;MROH7,3_prime_UTR_variant,,ENST00000440217,;MROH7,non_coding_transcript_exon_variant,,ENST00000371287,;MROH7-TTC4,non_coding_transcript_exon_variant,,ENST00000460155,;MROH7,downstream_gene_variant,,ENST00000438846,;	T	ENST00000421030	Transcript	synonymous_variant	3501/4329	3216/3972	1072/1323	R	cgG/cgT		1		1	MROH7	HGNC	HGNC:24802	protein_coding	YES	CCDS41342.2	ENSP00000396622	Q68CQ1		UPI000198C4E2	NM_001039464.3			19/24		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF17,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	LOW	1	SNV	2			1										PASS		rs1340940404	.												T	2	4	43	54701253	54701253	G	T	1	0	0	0	0	0	0	0	1	9747	1219	43	2		2	MROH7	1	54701253	Silent	SNP	G	C3N-00217_TP	89527	54701253	194255169	14	12452											
C1orf87	0	.	GRCh38	chr1	60025447	60025447	+	Nonsense_Mutation	SNP	C	C	A																															ttgatggttaagcaatgtttCcagcaggctcagggtcagat																								novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1081G>T	p.Glu361Ter	p.E361*	ENST00000371201	8/12	115	84	31	200	200	0	strelka-varscan-mutect	C1orf87,stop_gained,p.Glu361Ter,ENST00000371201,NM_152377.2;C1orf87,stop_gained,p.Glu132Ter,ENST00000450089,;	A	ENST00000371201	Transcript	stop_gained	1189/2028	1081/1641	361/546	E/*	Gaa/Taa		1		-1	C1orf87	HGNC	HGNC:28547	protein_coding	YES	CCDS614.1	ENSP00000360244	Q8N0U7		UPI000006E066	NM_152377.2			8/12		Gene3D:1.10.238.10,hmmpanther:PTHR34830,hmmpanther:PTHR34830:SF1,Low_complexity_(Seg):seg,Superfamily_domains:SSF47473																	HIGH	1	SNV	1			1										PASS		rs1487438003	.												A	4	1	43	60025447	60025447	C	A	1	0	0	0	0	0	1	0	0	1999	864	30	2		2	C1orf87	1	60025447	Nonsense_Mutation	SNP	C	C3N-00217_TP	5324194	60025447	188930975	15	12453	283	2									
C1orf87	0	.	GRCh38	chr1	60025448	60025448	+	Silent	SNP	C	C	A																															tgatggttaagcaatgtttcCagcaggctcagggtcagata																								rs201034247		C3N-00217_TP	C3N-00217_NB	C	C																c.1080G>T	p.=	p.L360L	ENST00000371201	8/12	117	85	32	199	199	0	strelka-varscan-mutect	C1orf87,synonymous_variant,p.=,ENST00000371201,NM_152377.2;C1orf87,synonymous_variant,p.=,ENST00000450089,;	A	ENST00000371201	Transcript	synonymous_variant	1188/2028	1080/1641	360/546	L	ctG/ctT	rs201034247	1		-1	C1orf87	HGNC	HGNC:28547	protein_coding	YES	CCDS614.1	ENSP00000360244	Q8N0U7		UPI000006E066	NM_152377.2			8/12		Gene3D:1.10.238.10,hmmpanther:PTHR34830,hmmpanther:PTHR34830:SF1,Low_complexity_(Seg):seg,Superfamily_domains:SSF47473																	LOW	1	SNV	1			1										PASS		rs201034247	.												A	2	1	43	60025448	60025448	C	A	1	0	0	0	0	0	0	0	1	1999	581	21	2		2	C1orf87	1	60025448	Silent	SNP	C	C3N-00217_TP	1	60025448	188930974	16	12454	283	2									
FPGT	0	.	GRCh38	chr1	74205431	74205431	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttaagcttaaagatgaatAgatgcttaaagtatgcaact	16	12	7	6	0	0	3	0	1	0	2	0	3	0	3	1	0	4	4	1	0	9	5	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1423A>G	p.Arg475Gly	p.R475G	ENST00000370898	4/4	141	115	26	248	248	0	strelka-varscan-mutect	FPGT,missense_variant,p.Arg475Gly,ENST00000370898,NM_003838.4;FPGT,missense_variant,p.Arg208Gly,ENST00000534056,NM_001199328.2;FPGT,3_prime_UTR_variant,,ENST00000370894,NM_001199329.2;FPGT-TNNI3K,intron_variant,,ENST00000370895,;FPGT-TNNI3K,intron_variant,,ENST00000557284,NM_001112808.2;FPGT-TNNI3K,intron_variant,,ENST00000370899,NM_001199327.1;FPGT-TNNI3K,intron_variant,,ENST00000370893,;FPGT-TNNI3K,intron_variant,,ENST00000534632,;FPGT,downstream_gene_variant,,ENST00000467578,;FPGT,downstream_gene_variant,,ENST00000482102,;FPGT,downstream_gene_variant,,ENST00000472069,;FPGT,intron_variant,,ENST00000524915,;FPGT-TNNI3K,intron_variant,,ENST00000533006,;FPGT,downstream_gene_variant,,ENST00000529485,;	G	ENST00000370898	Transcript	missense_variant	1451/3254	1423/1824	475/607	R/G	Aga/Gga		1		1	FPGT	HGNC	HGNC:3825	protein_coding	YES	CCDS663.2	ENSP00000359935		A0A0A0MRP2	UPI0003348FC3	NM_003838.4	tolerated(1)		4/4		Pfam_domain:PF07959,PIRSF_domain:PIRSF036640,hmmpanther:PTHR15045																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	74205431	74205431	A	G	1	0	0	0	0	1	0	0	0	5903	412	15	5		5	FPGT	1	74205431	Missense_Mutation	SNP	A	C3N-00217_TP	14179983	74205431	174750991	17	12455											
ERICH3	0	.	GRCh38	chr1	74620883	74620883	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaatagctgcattactaTgtaaggatgttttatgaatc	12	17	8	4	0	0	1	0	1	0	0	1	2	0	2	0	1	3	5	0	1	7	8	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.851A>G	p.His284Arg	p.H284R	ENST00000326665	8/15	71	45	26	108	108	0	strelka-varscan-mutect	ERICH3,missense_variant,p.His284Arg,ENST00000326665,NM_001002912.4;ERICH3,missense_variant,p.His87Arg,ENST00000420661,;ERICH3-AS1,intron_variant,,ENST00000612390,;ERICH3-AS1,intron_variant,,ENST00000416017,;ERICH3,3_prime_UTR_variant,,ENST00000479666,;	C	ENST00000326665	Transcript	missense_variant	1070/7159	851/4593	284/1530	H/R	cAt/cGt		1		-1	ERICH3	HGNC	HGNC:25346	protein_coding	YES	CCDS30755.1	ENSP00000322609	Q5RHP9		UPI0000237200	NM_001002912.4	tolerated(0.1)		8/15		hmmpanther:PTHR23034																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	43	74620883	74620883	T	C	1	0	0	0	0	1	0	0	0	5083	1464	51	5		5	ERICH3	1	74620883	Missense_Mutation	SNP	T	C3N-00217_TP	415452	74620883	174335539	18	12456											
ADGRL2	0	.	GRCh38	chr1	81951085	81951085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggccccgatcttagcaaCtgtacctcacactgggtgaa	11	8	10	12	1	2	1	1	1	1	0	2	2	2	1	3	2	3	2	3	2	5	2	rs750558783		C3N-00217_TP	C3N-00217_NB	C	C																c.1560C>A	p.Asn520Lys	p.N520K	ENST00000319517	7/20	119	108	11	146	146	0	strelka-varscan-mutect	ADGRL2,missense_variant,p.Asn520Lys,ENST00000370728,;ADGRL2,missense_variant,p.Asn520Lys,ENST00000370730,;ADGRL2,missense_variant,p.Asn520Lys,ENST00000370717,;ADGRL2,missense_variant,p.Asn520Lys,ENST00000627151,;ADGRL2,missense_variant,p.Asn520Lys,ENST00000370715,NM_001297705.1;ADGRL2,missense_variant,p.Asn520Lys,ENST00000319517,NM_012302.3;ADGRL2,missense_variant,p.Asn520Lys,ENST00000370713,NM_001297706.1;ADGRL2,missense_variant,p.Asn520Lys,ENST00000370725,;ADGRL2,missense_variant,p.Asn520Lys,ENST00000370723,;ADGRL2,missense_variant,p.Asn520Lys,ENST00000370727,;ADGRL2,missense_variant,p.Asn458Lys,ENST00000370721,;ADGRL2,missense_variant,p.Asn520Lys,ENST00000359929,NM_001297704.1;ADGRL2,missense_variant,p.Asn388Lys,ENST00000449420,;ADGRL2,intron_variant,,ENST00000469377,;ADGRL2,upstream_gene_variant,,ENST00000468283,;	A	ENST00000319517	Transcript	missense_variant	1776/5479	1560/4212	520/1403	N/K	aaC/aaA	rs750558783	1		1	ADGRL2	HGNC	HGNC:18582	protein_coding	YES	CCDS689.1	ENSP00000322270	O95490		UPI000005046B	NM_012302.3	deleterious(0.01)		7/20		PROSITE_profiles:PS50227,hmmpanther:PTHR12011:SF61,hmmpanther:PTHR12011,Pfam_domain:PF02793,SMART_domains:SM00008,Superfamily_domains:SSF111418																	MODERATE	1	SNV	1			1										PASS		rs750558783	.												A	3	1	43	81951085	81951085	C	A	1	0	0	0	0	1	0	0	0	376	564	20	2		2	ADGRL2	1	81951085	Missense_Mutation	SNP	C	C3N-00217_TP	7330202	81951085	167005337	19	12457											
LPAR3	0	.	GRCh38	chr1	84813880	84813880	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgcagactgcaccttggCtaatactatcctctatgtac	10	14	6	11	0	1	1	0	0	1	1	2	1	2	1	2	1	4	4	2	1	6	8	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1028G>T	p.Ser343Ile	p.S343I	ENST00000440886	2/2	116	75	41	139	139	0	strelka-varscan-mutect	LPAR3,missense_variant,p.Ser343Ile,ENST00000440886,;LPAR3,missense_variant,p.Ser343Ile,ENST00000370611,NM_012152.2;LPAR3,downstream_gene_variant,,ENST00000491034,;	A	ENST00000440886	Transcript	missense_variant	1067/3345	1028/1062	343/353	S/I	aGc/aTc		1		-1	LPAR3	HGNC	HGNC:14298	protein_coding	YES	CCDS700.1	ENSP00000395389	Q9UBY5		UPI000003CAC0		tolerated(0.25)		2/2		PD334079,Prints_domain:PR01560,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF21																	MODERATE	1	SNV	1			1										PASS		rs962900293	.												A	3	1	43	84813880	84813880	C	A	1	0	0	0	0	1	0	0	0	8809	797	28	2		2	LPAR3	1	84813880	Missense_Mutation	SNP	C	C3N-00217_TP	2862795	84813880	164142542	20	12458											
EVI5	0	.	GRCh38	chr1	92607607	92607607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatctctgcttgtttacGctttgcttcacttaattgag	7	19	6	9	1	3	1	2	1	1	0	4	1	3	1	0	0	3	4	0	0	3	8			C3N-00217_TP	C3N-00217_NB	G	G																c.1933C>T	p.Arg645Cys	p.R645C	ENST00000540033	16/19	66	42	24	134	134	0	strelka-varscan-mutect	EVI5,missense_variant,p.Arg645Cys,ENST00000540033,NM_001308248.1;EVI5,missense_variant,p.Arg634Cys,ENST00000370331,NM_005665.4;EVI5,missense_variant,p.Arg252Cys,ENST00000491940,;EVI5,non_coding_transcript_exon_variant,,ENST00000492513,;EVI5,downstream_gene_variant,,ENST00000468580,;	A	ENST00000540033	Transcript	missense_variant	1943/7436	1933/2466	645/821	R/C	Cgt/Tgt	COSM1344921,COSM4783216	1		-1	EVI5	HGNC	HGNC:3501	protein_coding	YES	CCDS76179.1	ENSP00000440826	O60447		UPI0002065028	NM_001308248.1	deleterious(0)		16/19													1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1311854813	.												A	3	1	43	92607607	92607607	G	A	1	0	0	0	0	1	0	0	0	5156	1087	38	1		1	EVI5	1	92607607	Missense_Mutation	SNP	G	C3N-00217_TP	7793727	92607607	156348815	21	12459											
SNX7	0	.	GRCh38	chr1	98685023	98685024	+	Frame_Shift_Ins	INS	-	-	TT																															tgatgaacctgaaagtcatgINSttactacaatagaaactttc																								novel		C3N-00217_TP	C3N-00217_NB	-	-																c.320_321dupTT	p.Thr108LeufsTer4	p.T108Lfs*4	ENST00000306121	2/9	34	24	10	50	50	0	sindel-varindel	SNX7,frameshift_variant,p.Thr108LeufsTer4,ENST00000306121,NM_015976.4;SNX7,frameshift_variant,p.Thr108LeufsTer4,ENST00000529992,NM_152238.3;SNX7,frameshift_variant,p.Thr44LeufsTer4,ENST00000454199,;SNX7,3_prime_UTR_variant,,ENST00000528824,;	TT	ENST00000306121	Transcript	frameshift_variant	328-329/1734	319-320/1356	107/451	V/VX	gtt/gTTtt		1		1	SNX7	HGNC	HGNC:14971	protein_coding	YES	CCDS755.2	ENSP00000304429	Q9UNH6		UPI0000205396	NM_015976.4			2/9		PROSITE_profiles:PS50195,hmmpanther:PTHR10555:SF21,hmmpanther:PTHR10555,Gene3D:3.30.1520.10,Pfam_domain:PF00787,SMART_domains:SM00312,Superfamily_domains:SSF64268																	HIGH	1	insertion	1	2		1										PASS		.	.												TT	7	5	43	98685023	98685023	-	TT	1	0	1	1	0	0	0	0	0	15228	1377	48	0		0	SNX7	1	98685023	Frame_Shift_Ins	INS	-	C3N-00217_TP	6077416	98685023	150271399	22	12460	284	2									
SNX7	0	.	GRCh38	chr1	98685026	98685026	+	Missense_Mutation	SNP	A	A	T																															atgaacctgaaagtcatgttActacaatagaaactttcatt																								novel		C3N-00217_TP	C3N-00217_NB	A	A																c.322A>T	p.Thr108Ser	p.T108S	ENST00000306121	2/9	35	24	11	50	50	0	strelka-mutect	SNX7,missense_variant,p.Thr108Ser,ENST00000306121,NM_015976.4;SNX7,missense_variant,p.Thr108Ser,ENST00000529992,NM_152238.3;SNX7,missense_variant,p.Thr44Ser,ENST00000454199,;SNX7,3_prime_UTR_variant,,ENST00000528824,;	T	ENST00000306121	Transcript	missense_variant	331/1734	322/1356	108/451	T/S	Act/Tct		1		1	SNX7	HGNC	HGNC:14971	protein_coding	YES	CCDS755.2	ENSP00000304429	Q9UNH6		UPI0000205396	NM_015976.4	tolerated(0.39)		2/9		PROSITE_profiles:PS50195,hmmpanther:PTHR10555:SF21,hmmpanther:PTHR10555,Gene3D:3.30.1520.10,Pfam_domain:PF00787,SMART_domains:SM00312,Superfamily_domains:SSF64268																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	98685026	98685026	A	T	1	0	0	0	0	1	0	0	0	15228	391	14	4		4	SNX7	1	98685026	Missense_Mutation	SNP	A	C3N-00217_TP	3	98685026	150271396	23	12461	284	2									
PSRC1	0	.	GRCh38	chr1	109281915	109281915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcctcatcgaggatctcctCcagcttctctggactgaggg	6	10	12	13	1	3	1	1	1	2	0	7	4	4	3	3	4	1	1	3	4	0	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.223G>A	p.Glu75Lys	p.E75K	ENST00000369909	4/8	41	26	15	39	39	0	strelka-varscan-mutect	PSRC1,missense_variant,p.Glu75Lys,ENST00000409138,;PSRC1,missense_variant,p.Glu75Lys,ENST00000369909,NM_001032291.2,NM_032636.7;PSRC1,missense_variant,p.Glu75Lys,ENST00000409267,;PSRC1,missense_variant,p.Glu75Lys,ENST00000369907,;PSRC1,missense_variant,p.Glu75Lys,ENST00000369903,;PSRC1,missense_variant,p.Glu75Lys,ENST00000369904,NM_001005290.3;PSRC1,missense_variant,p.Glu75Lys,ENST00000418914,;PSRC1,missense_variant,p.Glu75Lys,ENST00000429031,;PSRC1,upstream_gene_variant,,ENST00000474126,;PSRC1,non_coding_transcript_exon_variant,,ENST00000492431,;PSRC1,non_coding_transcript_exon_variant,,ENST00000459765,;PSRC1,non_coding_transcript_exon_variant,,ENST00000471740,;	T	ENST00000369909	Transcript	missense_variant	367/1742	223/1002	75/333	E/K	Gag/Aag		1		-1	PSRC1	HGNC	HGNC:24472	protein_coding	YES	CCDS797.1	ENSP00000358925	Q6PGN9	A0A024R099	UPI0000073C97	NM_001032291.2,NM_032636.7	deleterious(0)		4/8		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21584,hmmpanther:PTHR21584:SF1,Pfam_domain:PF15259																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	109281915	109281915	C	T	1	0	0	0	0	1	0	0	0	12871	864	30	3		3	PSRC1	1	109281915	Missense_Mutation	SNP	C	C3N-00217_TP	10596889	109281915	139674507	24	12462											
KCNA10	0	.	GRCh38	chr1	110517308	110517308	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttattaagagagtctgTgctgcccattcttgagccta	8	14	10	9	0	3	2	0	1	3	1	3	3	3	2	2	1	3	1	2	1	3	5	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.1480A>G	p.Thr494Ala	p.T494A	ENST00000369771	1/1	102	80	22	145	145	0	strelka-varscan-mutect	KCNA10,missense_variant,p.Thr494Ala,ENST00000369771,NM_005549.2;	C	ENST00000369771	Transcript	missense_variant	1868/1959	1480/1536	494/511	T/A	Aca/Gca		1		-1	KCNA10	HGNC	HGNC:6219	protein_coding	YES	CCDS826.1	ENSP00000358786	Q16322		UPI0000071B2B	NM_005549.2	tolerated_low_confidence(0.35)		1/1		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF44																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	43	110517308	110517308	T	C	1	0	0	0	0	1	0	0	0	7918	1696	59	5		5	KCNA10	1	110517308	Missense_Mutation	SNP	T	C3N-00217_TP	1235393	110517308	138439114	25	12463											
PDE4DIP	0	.	GRCh38	chr1	149005004	149005004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacactggctagttcctctGagaggaagcccttggagaac	11	8	11	11	0	1	2	0	1	1	2	2	5	2	3	2	3	3	2	2	3	4	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3982G>A	p.Glu1328Lys	p.E1328K	ENST00000369356	27/44	200	172	28	148	148	0	varscan-mutect	PDE4DIP,missense_variant,p.Glu1464Lys,ENST00000585156,;PDE4DIP,missense_variant,p.Glu1328Lys,ENST00000369356,NM_001198834.3;PDE4DIP,missense_variant,p.Glu1464Lys,ENST00000524974,;PDE4DIP,missense_variant,p.Glu1328Lys,ENST00000369354,NM_014644.5;PDE4DIP,missense_variant,p.Glu1284Lys,ENST00000618462,NM_001198832.2;RP4-791M13.5,downstream_gene_variant,,ENST00000531288,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,upstream_gene_variant,,ENST00000479369,;	A	ENST00000369356	Transcript	missense_variant	4273/8307	3982/7089	1328/2362	E/K	Gag/Aag		1		1	PDE4DIP	HGNC	HGNC:15580	protein_coding	YES	CCDS72892.1	ENSP00000358363		A0A0A0MRM1	UPI000292EFC6	NM_001198834.3	tolerated(0.85)		27/44																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	149005004	149005004	G	A	1	0	0	0	0	1	0	0	0	11731	1291	45	3		3	PDE4DIP	1	149005004	Missense_Mutation	SNP	G	C3N-00217_TP	38487696	149005004	99951418	26	12464											
OTUD7B	0	.	GRCh38	chr1	149944805	149944805	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctccaggctttgaaccCttgctgtgcatcaggccccc	6	9	8	18	0	1	1	1	1	0	0	2	1	2	1	6	2	3	3	6	2	1	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1584G>C	p.Lys528Asn	p.K528N	ENST00000581312	12/12	442	387	55	227	227	0	strelka-mutect	OTUD7B,missense_variant,p.Lys528Asn,ENST00000581312,NM_020205.3;OTUD7B,downstream_gene_variant,,ENST00000417191,;	G	ENST00000581312	Transcript	missense_variant	1879/8872	1584/2532	528/843	K/N	aaG/aaC		1		-1	OTUD7B	HGNC	HGNC:16683	protein_coding	YES	CCDS72903.1	ENSP00000462729	Q6GQQ9		UPI000020415D	NM_020205.3	deleterious(0)		12/12		hmmpanther:PTHR13367,hmmpanther:PTHR13367:SF9,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	149944805	149944805	C	G	1	0	0	0	0	1	0	0	0	11388	680	24	4		4	OTUD7B	1	149944805	Missense_Mutation	SNP	C	C3N-00217_TP	939801	149944805	99011617	27	12465											
ADAMTSL4	0	.	GRCh38	chr1	150557212	150557212	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccggaccccaggcaccCtccagcgtcaggtgcggatc	7	4	12	18	3	1	0	1	0	0	0	3	2	2	2	5	4	3	1	5	4	0	0	rs768995007		C3N-00217_TP	C3N-00217_NB	C	C																c.1993C>A	p.Leu665Ile	p.L665I	ENST00000369039	13/20	312	249	63	124	124	0	strelka-varscan-mutect	ADAMTSL4,missense_variant,p.Leu665Ile,ENST00000369039,NM_001288608.1,NM_001288607.1;ADAMTSL4,missense_variant,p.Leu642Ile,ENST00000271643,NM_019032.5;ADAMTSL4,missense_variant,p.Leu642Ile,ENST00000369038,;ADAMTSL4,missense_variant,p.Leu642Ile,ENST00000369041,NM_025008.4;RP11-54A4.2,intron_variant,,ENST00000442435,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000617352,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000369035,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000615012,;ADAMTSL4,upstream_gene_variant,,ENST00000489159,;	A	ENST00000369039	Transcript	missense_variant	2282/4319	1993/3294	665/1097	L/I	Ctc/Atc	rs768995007	1		1	ADAMTSL4	HGNC	HGNC:19706	protein_coding	YES	CCDS72908.1	ENSP00000358035	Q6UY14		UPI0001AE7902	NM_001288608.1,NM_001288607.1	tolerated(0.08)		13/20		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs768995007	.												A	3	1	43	150557212	150557212	C	A	1	0	0	0	0	1	0	0	0	321	681	24	2		2	ADAMTSL4	1	150557212	Missense_Mutation	SNP	C	C3N-00217_TP	612407	150557212	98399210	28	12466											
ADAMTSL4	0	.	GRCh38	chr1	150559457	150559457	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgatggttttccacgccCtggagcccagtgagtgtctg	6	10	13	12	2	1	1	0	1	1	0	2	4	2	2	4	2	1	1	4	2	0	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.3003C>G	p.=	p.P1001P	ENST00000369039	18/20	306	241	65	138	138	0	strelka-varscan-mutect	ADAMTSL4,synonymous_variant,p.=,ENST00000369039,NM_001288608.1,NM_001288607.1;ADAMTSL4,synonymous_variant,p.=,ENST00000271643,NM_019032.5;ADAMTSL4,synonymous_variant,p.=,ENST00000369038,;ADAMTSL4,downstream_gene_variant,,ENST00000369041,NM_025008.4;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000617352,;RP11-54A4.2,upstream_gene_variant,,ENST00000442435,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000369035,;ADAMTSL4,non_coding_transcript_exon_variant,,ENST00000489159,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000615012,;	G	ENST00000369039	Transcript	synonymous_variant	3292/4319	3003/3294	1001/1097	P	ccC/ccG		1		1	ADAMTSL4	HGNC	HGNC:19706	protein_coding	YES	CCDS72908.1	ENSP00000358035	Q6UY14		UPI0001AE7902	NM_001288608.1,NM_001288607.1			18/20		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF144,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	43	150559457	150559457	C	G	1	0	0	0	0	0	0	0	1	321	668	24	4		4	ADAMTSL4	1	150559457	Silent	SNP	C	C3N-00217_TP	2245	150559457	98396965	29	12467											
ADAMTSL4	0	.	GRCh38	chr1	150560083	150560083	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcaatgcaaggacagctctCcacattgccccctggtggta	10	9	9	13	0	2	0	1	0	1	0	3	1	2	1	3	3	3	3	3	3	3	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.3181C>G	p.Pro1061Ala	p.P1061A	ENST00000369039	20/20	790	645	145	325	325	0	strelka-varscan-mutect	ADAMTSL4,missense_variant,p.Pro1061Ala,ENST00000369039,NM_001288608.1,NM_001288607.1;ADAMTSL4,missense_variant,p.Pro1038Ala,ENST00000271643,NM_019032.5;ADAMTSL4,missense_variant,p.Pro1038Ala,ENST00000369038,;ADAMTSL4,downstream_gene_variant,,ENST00000369041,NM_025008.4;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000617352,;RP11-54A4.2,upstream_gene_variant,,ENST00000442435,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000369035,;ADAMTSL4,non_coding_transcript_exon_variant,,ENST00000489159,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000615012,;	G	ENST00000369039	Transcript	missense_variant	3470/4319	3181/3294	1061/1097	P/A	Cca/Gca		1		1	ADAMTSL4	HGNC	HGNC:19706	protein_coding	YES	CCDS72908.1	ENSP00000358035	Q6UY14		UPI0001AE7902	NM_001288608.1,NM_001288607.1	tolerated(0.28)		20/20		PROSITE_profiles:PS50900,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF144,Pfam_domain:PF08686																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	43	150560083	150560083	C	G	1	0	0	0	0	1	0	0	0	321	855	30	4		4	ADAMTSL4	1	150560083	Missense_Mutation	SNP	C	C3N-00217_TP	626	150560083	98396339	30	12468											
ENSA	0	.	GRCh38	chr1	150627523	150627523	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaggcttttgtcctaggcTtgggtatttggcctttagct	4	17	11	9	0	0	0	0	0	0	0	2	0	2	0	3	4	1	4	3	4	3	8	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.127A>T	p.Ser43Cys	p.S43C	ENST00000339643	2/5	441	277	164	232	232	0	strelka-varscan-mutect	ENSA,missense_variant,p.Ser43Cys,ENST00000271690,NM_207044.1;ENSA,missense_variant,p.Ser43Cys,ENST00000356527,;ENSA,missense_variant,p.Ser43Cys,ENST00000369014,NM_004436.2;ENSA,missense_variant,p.Ser39Cys,ENST00000513281,NM_207047.1;ENSA,missense_variant,p.Ser43Cys,ENST00000369016,;ENSA,missense_variant,p.Ser43Cys,ENST00000503345,;ENSA,missense_variant,p.Ser39Cys,ENST00000361532,NM_207046.1;ENSA,missense_variant,p.Ser39Cys,ENST00000361631,NM_207045.1;ENSA,missense_variant,p.Ser43Cys,ENST00000362052,NM_207168.1;ENSA,missense_variant,p.Ser43Cys,ENST00000339643,NM_207042.1;ENSA,missense_variant,p.Ser43Cys,ENST00000503241,NM_207043.1;ENSA,non_coding_transcript_exon_variant,,ENST00000354702,;ENSA,intron_variant,,ENST00000505321,;ENSA,missense_variant,p.Ser43Cys,ENST00000509582,;	A	ENST00000339643	Transcript	missense_variant	233/633	127/414	43/137	S/C	Agc/Tgc		1		-1	ENSA	HGNC	HGNC:3360	protein_coding	YES	CCDS959.1	ENSP00000341743	O43768		UPI00001C1A8D	NM_207042.1	deleterious(0.02)		2/5		hmmpanther:PTHR10358,hmmpanther:PTHR10358:SF5																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	43	150627523	150627523	T	A	1	0	0	0	0	1	0	0	0	4981	1609	56	4		4	ENSA	1	150627523	Missense_Mutation	SNP	T	C3N-00217_TP	67440	150627523	98328899	31	12469											
CHRNB2	0	.	GRCh38	chr1	154572129	154572129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcgtgcgcttcatcgcaGaccacatgcggagcgaggac	9	5	14	13	6	1	1	1	0	0	1	2	4	1	3	1	3	3	2	1	3	0	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1306G>T	p.Asp436Tyr	p.D436Y	ENST00000368476	5/6	132	83	49	47	47	0	strelka-varscan-mutect	CHRNB2,missense_variant,p.Asp436Tyr,ENST00000368476,NM_000748.2;CHRNB2,missense_variant,p.Asp438Tyr,ENST00000637900,;CHRNB2,upstream_gene_variant,,ENST00000635876,;CHRNB2,missense_variant,p.Asp436Tyr,ENST00000636034,;CHRNB2,downstream_gene_variant,,ENST00000636695,;	T	ENST00000368476	Transcript	missense_variant	1570/5867	1306/1509	436/502	D/Y	Gac/Tac		1		1	CHRNB2	HGNC	HGNC:1962	protein_coding	YES	CCDS1070.1	ENSP00000357461	P17787	Q5SXY3	UPI000012526E	NM_000748.2	deleterious(0)		5/6		Gene3D:1.20.120.370,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF80,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	154572129	154572129	G	T	1	0	0	0	0	1	0	0	0	3151	942	33	2		2	CHRNB2	1	154572129	Missense_Mutation	SNP	G	C3N-00217_TP	3944606	154572129	94384293	32	12470											
TRIM46	0	.	GRCh38	chr1	155181923	155181923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatcagcaaggaccagcgaGcagtacggagtgttccaggg	11	6	14	10	2	1	0	1	0	0	0	2	3	2	2	2	3	4	4	2	3	3	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1660G>A	p.Ala554Thr	p.A554T	ENST00000334634	9/10	384	264	120	196	196	0	strelka-varscan-mutect	TRIM46,missense_variant,p.Ala512Thr,ENST00000392451,NM_001256600.1;TRIM46,missense_variant,p.Ala531Thr,ENST00000368382,NM_001256599.1;TRIM46,missense_variant,p.Ala541Thr,ENST00000611379,NM_001256601.1;TRIM46,missense_variant,p.Ala554Thr,ENST00000334634,NM_025058.4;TRIM46,missense_variant,p.Ala428Thr,ENST00000545012,NM_001282378.1;TRIM46,missense_variant,p.Ala554Thr,ENST00000368383,;MUC1,downstream_gene_variant,,ENST00000611571,;TRIM46,downstream_gene_variant,,ENST00000368385,NM_001282379.1;MUC1,downstream_gene_variant,,ENST00000612778,NM_001204286.1;MUC1,downstream_gene_variant,,ENST00000620103,NM_001204285.1;TRIM46,downstream_gene_variant,,ENST00000543729,;MUC1,downstream_gene_variant,,ENST00000462215,;MUC1,downstream_gene_variant,,ENST00000457295,;MUC1,downstream_gene_variant,,ENST00000462317,;MUC1,downstream_gene_variant,,ENST00000338684,NM_001204289.1,NM_001204291.1;MUC1,downstream_gene_variant,,ENST00000610359,NM_001204292.1;MUC1,downstream_gene_variant,,ENST00000614519,;MUC1,downstream_gene_variant,,ENST00000368392,NM_001018016.2,NM_001204288.1;MUC1,downstream_gene_variant,,ENST00000611577,;MUC1,downstream_gene_variant,,ENST00000615517,NM_001204295.1;MUC1,downstream_gene_variant,,ENST00000368393,NM_001204293.1;MUC1,downstream_gene_variant,,ENST00000438413,NM_001204290.1;MUC1,downstream_gene_variant,,ENST00000337604,NM_001204287.1,NM_002456.5;MUC1,downstream_gene_variant,,ENST00000368390,NM_001018017.2;MUC1,downstream_gene_variant,,ENST00000368398,NM_001204294.1;MUC1,downstream_gene_variant,,ENST00000485118,;MUC1,downstream_gene_variant,,ENST00000343256,NM_001044390.2,NM_001204296.1;MUC1,downstream_gene_variant,,ENST00000471283,NM_001044393.2;MUC1,downstream_gene_variant,,ENST00000368389,NM_001204297.1;MUC1,downstream_gene_variant,,ENST00000342482,;MUC1,downstream_gene_variant,,ENST00000368396,NM_001044392.2,NM_001044391.2;TRIM46,non_coding_transcript_exon_variant,,ENST00000468878,;TRIM46,non_coding_transcript_exon_variant,,ENST00000474430,;TRIM46,downstream_gene_variant,,ENST00000464760,;RP11-201K10.3,intron_variant,,ENST00000473363,;MUC1,downstream_gene_variant,,ENST00000610468,;MUC1,downstream_gene_variant,,ENST00000468978,;MUC1,downstream_gene_variant,,ENST00000498431,;MUC1,downstream_gene_variant,,ENST00000467134,;	A	ENST00000334634	Transcript	missense_variant	1660/3061	1660/2280	554/759	A/T	Gca/Aca		1		1	TRIM46	HGNC	HGNC:19019	protein_coding	YES	CCDS1097.1	ENSP00000334657	Q7Z4K8		UPI000022B316	NM_025058.4	tolerated(0.43)		9/10		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF27,hmmpanther:PTHR24103,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	155181923	155181923	G	A	1	0	0	0	0	1	0	0	0	17011	971	34	3		3	TRIM46	1	155181923	Missense_Mutation	SNP	G	C3N-00217_TP	609794	155181923	93774499	33	12471											
BCAN	0	.	GRCh38	chr1	156647081	156647081	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgacgtctccctggcgctGagcgagctgcgccccaacga	7	5	12	17	6	1	1	0	1	1	0	2	4	1	1	4	1	4	2	4	1	1	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.372G>T	p.=	p.L124L	ENST00000329117	3/14	112	44	68	79	79	0	strelka-varscan-mutect	BCAN,synonymous_variant,p.=,ENST00000329117,NM_021948.4;BCAN,synonymous_variant,p.=,ENST00000361588,NM_198427.1;BCAN,synonymous_variant,p.=,ENST00000457777,;BCAN,synonymous_variant,p.=,ENST00000441358,;BCAN,intron_variant,,ENST00000424639,;RP11-284F21.7,non_coding_transcript_exon_variant,,ENST00000448869,;RP11-284F21.10,upstream_gene_variant,,ENST00000605886,;BCAN,synonymous_variant,p.=,ENST00000479949,;BCAN,upstream_gene_variant,,ENST00000491823,;	T	ENST00000329117	Transcript	synonymous_variant	708/3466	372/2736	124/911	L	ctG/ctT		1		1	BCAN	HGNC	HGNC:23059	protein_coding	YES	CCDS1149.1	ENSP00000331210	Q96GW7		UPI000006F0E9	NM_021948.4			3/14		PROSITE_profiles:PS50835,hmmpanther:PTHR22804,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	156647081	156647081	G	T	1	0	0	0	0	0	0	0	1	1492	1277	45	2		2	BCAN	1	156647081	Silent	SNP	G	C3N-00217_TP	1465158	156647081	92309341	34	12472											
CD1C	0	.	GRCh38	chr1	158291345	158291345	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagttgttatttcgtttctaCctctttggattaactcggga	7	18	9	7	2	2	0	0	0	2	0	4	3	2	2	1	2	2	3	1	2	3	7	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.273C>A	p.Tyr91Ter	p.Y91*	ENST00000368170	2/6	253	118	135	226	225	1	strelka-varscan-mutect	CD1C,stop_gained,p.Tyr91Ter,ENST00000368170,NM_001765.2;CD1C,stop_gained,p.Tyr26Ter,ENST00000443761,;	A	ENST00000368170	Transcript	stop_gained	552/1435	273/1002	91/333	Y/*	taC/taA		1		1	CD1C	HGNC	HGNC:1636	protein_coding	YES	CCDS1175.1	ENSP00000357152	P29017		UPI000013DF78	NM_001765.2			2/6		hmmpanther:PTHR16675:SF155,hmmpanther:PTHR16675,Pfam_domain:PF16497,Gene3D:3.30.500.10,Superfamily_domains:SSF54452																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	43	158291345	158291345	C	A	1	0	0	0	0	0	1	0	0	2679	518	18	2		2	CD1C	1	158291345	Nonsense_Mutation	SNP	C	C3N-00217_TP	1644264	158291345	90665077	35	12473											
CADM3	0	.	GRCh38	chr1	159200901	159200901	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagtcaggaggggacgaCaagaaggaatatttcatcta	14	7	14	6	1	3	1	2	0	1	1	3	5	3	4	0	5	0	1	0	5	5	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1278C>T	p.=	p.D426D	ENST00000368124	10/10	77	68	9	65	64	1	strelka-varscan-mutect	CADM3,synonymous_variant,p.=,ENST00000368125,NM_001127173.1;CADM3,synonymous_variant,p.=,ENST00000368124,NM_021189.3;ACKR1,upstream_gene_variant,,ENST00000537147,;ACKR1,upstream_gene_variant,,ENST00000368122,NM_002036.3;ACKR1,upstream_gene_variant,,ENST00000368121,NM_001122951.2;CADM3,downstream_gene_variant,,ENST00000416746,;ACKR1,upstream_gene_variant,,ENST00000435307,;CADM3-AS1,non_coding_transcript_exon_variant,,ENST00000415675,;CADM3-AS1,downstream_gene_variant,,ENST00000609696,;	T	ENST00000368124	Transcript	synonymous_variant	1435/2546	1278/1299	426/432	D	gaC/gaT		1		1	CADM3	HGNC	HGNC:17601	protein_coding	YES	CCDS1182.1	ENSP00000357106	Q8N126		UPI000006E8A2	NM_021189.3			10/10		hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF57																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	159200901	159200901	C	T	1	0	0	0	0	0	0	0	1	2258	477	17	3		3	CADM3	1	159200901	Silent	SNP	C	C3N-00217_TP	909556	159200901	89755521	36	12474											
OR10J3	0	.	GRCh38	chr1	159314422	159314422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaccagaaagcatatgggGaatgatggccacagtgtagc	14	6	14	7	0	0	3	0	1	0	2	0	5	0	4	2	3	2	2	2	3	4	2			C3N-00217_TP	C3N-00217_NB	G	G																c.238C>A	p.Pro80Thr	p.P80T	ENST00000332217	1/1	411	365	46	317	316	1	strelka-varscan-mutect	OR10J3,missense_variant,p.Pro80Thr,ENST00000332217,NM_001004467.1;	T	ENST00000332217	Transcript	missense_variant	238/990	238/990	80/329	P/T	Ccc/Acc	COSM1688897	1		-1	OR10J3	HGNC	HGNC:14992	protein_coding	YES	CCDS30909.1	ENSP00000331789	Q5JRS4		UPI0000441EEF	NM_001004467.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF28,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	43	159314422	159314422	G	T	1	0	0	0	0	1	0	0	0	10988	1174	41	2		2	OR10J3	1	159314422	Missense_Mutation	SNP	G	C3N-00217_TP	113521	159314422	89642000	37	12475											
KCNJ9	0	.	GRCh38	chr1	160084834	160084834	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtgccctcgagagggaCgacttcgagatcgtcgttat	7	9	13	12	7	0	2	0	0	0	2	4	6	0	3	2	1	1	1	2	1	1	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.804C>T	p.=	p.D268D	ENST00000368088	2/3	105	37	68	71	71	0	strelka-varscan-mutect	KCNJ9,synonymous_variant,p.=,ENST00000368088,NM_004983.2;	T	ENST00000368088	Transcript	synonymous_variant	1046/4170	804/1182	268/393	D	gaC/gaT		1		1	KCNJ9	HGNC	HGNC:6270	protein_coding	YES	CCDS1194.1	ENSP00000357067	Q92806		UPI000013E1B3	NM_004983.2			2/3		hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF17,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,Gene3D:2.60.40.1400,Superfamily_domains:SSF81296,Prints_domain:PR01329																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	160084834	160084834	C	T	1	0	0	0	0	0	0	0	1	7974	535	19	1		1	KCNJ9	1	160084834	Silent	SNP	C	C3N-00217_TP	770412	160084834	88871588	38	12476											
OLFML2B	0	.	GRCh38	chr1	162000265	162000265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacctcaggcagagccaggGgtcgcgtctgcagaagttcg	8	6	14	13	3	2	2	1	0	1	2	4	2	2	2	3	3	2	3	3	3	1	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.800C>A	p.Pro267His	p.P267H	ENST00000367940	5/8	269	122	147	201	201	0	strelka-varscan-mutect	OLFML2B,missense_variant,p.Pro266His,ENST00000294794,NM_015441.2;OLFML2B,missense_variant,p.Pro267His,ENST00000367940,NM_001297713.1;	T	ENST00000367940	Transcript	missense_variant	1010/2685	800/2256	267/751	P/H	cCc/cAc		1		-1	OLFML2B	HGNC	HGNC:24558	protein_coding	YES	CCDS72966.1	ENSP00000356917		F2Z3N3	UPI0001AE79B2	NM_001297713.1	tolerated(0.74)		5/8		hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37																	MODERATE	1	SNV	2			1										PASS		rs1468140412	.												T	3	4	43	162000265	162000265	G	T	1	0	0	0	0	1	0	0	0	10933	1232	43	2		2	OLFML2B	1	162000265	Missense_Mutation	SNP	G	C3N-00217_TP	1915431	162000265	86956157	39	12477											
F5	0	.	GRCh38	chr1	169541130	169541130	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctgaggtctggagaaatGggcatctgaccgagggctgg	8	8	18	7	1	2	3	0	2	2	1	2	5	2	3	1	6	0	3	1	6	1	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3960C>G	p.=	p.P1320P	ENST00000367797	13/25	593	550	43	388	388	0	varscan-mutect	F5,synonymous_variant,p.=,ENST00000367796,;F5,synonymous_variant,p.=,ENST00000367797,NM_000130.4;	C	ENST00000367797	Transcript	synonymous_variant	4162/7024	3960/6675	1320/2224	P	ccC/ccG		1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4			13/25		PIRSF_domain:PIRSF000354																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	43	169541130	169541130	G	C	1	0	0	0	0	0	0	0	1	5216	1335	47	4		4	F5	1	169541130	Silent	SNP	G	C3N-00217_TP	7540865	169541130	79415292	40	12478											
F5	0	.	GRCh38	chr1	169541265	169541265	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctgaggtctggagaaagGggcatctgaccgagggctgg	8	7	19	7	1	2	3	0	2	2	1	2	5	2	3	1	7	0	3	1	7	1	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3825C>G	p.=	p.P1275P	ENST00000367797	13/25	365	225	140	310	310	0	strelka-varscan-mutect	F5,synonymous_variant,p.=,ENST00000367796,;F5,synonymous_variant,p.=,ENST00000367797,NM_000130.4;	C	ENST00000367797	Transcript	synonymous_variant	4027/7024	3825/6675	1275/2224	P	ccC/ccG		1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4			13/25		PIRSF_domain:PIRSF000354																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	43	169541265	169541265	G	C	1	0	0	0	0	0	0	0	1	5216	1219	43	4		4	F5	1	169541265	Silent	SNP	G	C3N-00217_TP	135	169541265	79415157	41	12479											
SLC9C2	0	.	GRCh38	chr1	173576685	173576685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taattacaagttcgatcttcGgtttaaaagttaaagaatct	15	15	6	5	2	2	1	0	0	2	1	4	2	2	1	0	1	1	3	0	1	8	7	rs540891244		C3N-00217_TP	C3N-00217_NB	G	G																c.878C>A	p.Pro293Gln	p.P293Q	ENST00000367714	8/28	112	100	12	99	99	0	strelka-varscan-mutect	SLC9C2,missense_variant,p.Pro293Gln,ENST00000367714,NM_178527.3;RP3-436N22.3,intron_variant,,ENST00000431459,;SLC9C2,non_coding_transcript_exon_variant,,ENST00000466087,;	T	ENST00000367714	Transcript	missense_variant	1301/4428	878/3375	293/1124	P/Q	cCg/cAg	rs540891244,COSM378899	1		-1	SLC9C2	HGNC	HGNC:28664	protein_coding	YES	CCDS1308.1	ENSP00000356687	Q5TAH2		UPI0000197379	NM_178527.3	deleterious(0)		8/28		hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF91,Pfam_domain:PF00999											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs540891244	.												T	3	4	43	173576685	173576685	G	T	1	0	0	0	0	1	0	0	0	15007	1116	39	1		1	SLC9C2	1	173576685	Missense_Mutation	SNP	G	C3N-00217_TP	4035420	173576685	75379737	42	12480											
TNN	0	.	GRCh38	chr1	175098516	175098516	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgacaggcctgagaccGggtatggagtacatggtgca	9	8	15	9	1	0	2	0	2	0	1	1	4	1	3	3	4	2	3	3	4	2	2	rs769031710		C3N-00217_TP	C3N-00217_NB	G	G																c.2040G>T	p.=	p.P680P	ENST00000239462	9/19	477	433	44	296	295	1	strelka-varscan-mutect	TNN,synonymous_variant,p.=,ENST00000239462,NM_022093.1;TNN,intron_variant,,ENST00000621086,;TNN,intron_variant,,ENST00000622870,;	T	ENST00000239462	Transcript	synonymous_variant	2153/5008	2040/3900	680/1299	P	ccG/ccT	rs769031710,COSM4534032	1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1			9/19		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265											0,1						LOW	1	SNV	2		0,1	1										PASS		rs769031710	.												T	2	4	43	175098516	175098516	G	T	1	0	0	0	0	0	0	0	1	16796	1103	39	1		1	TNN	1	175098516	Silent	SNP	G	C3N-00217_TP	1521831	175098516	73857906	43	12481											
PAPPA2	0	.	GRCh38	chr1	176557063	176557063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatggtggagagggctcCtaccgagaagcagagacctt	13	6	13	9	1	0	3	0	0	0	3	1	6	1	3	3	3	2	2	3	3	4	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.741C>T	p.=	p.S247S	ENST00000367662	2/23	454	397	57	272	271	1	strelka-varscan-mutect	PAPPA2,synonymous_variant,p.=,ENST00000367662,NM_020318.2;PAPPA2,synonymous_variant,p.=,ENST00000367661,NM_021936.2;PAPPA2,downstream_gene_variant,,ENST00000486075,;PAPPA2,downstream_gene_variant,,ENST00000493665,;	T	ENST00000367662	Transcript	synonymous_variant	1905/9691	741/5376	247/1791	S	tcC/tcT		1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2			2/23		Gene3D:2.60.120.200,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	176557063	176557063	C	T	1	0	0	0	0	0	0	0	1	11513	668	24	3		3	PAPPA2	1	176557063	Silent	SNP	C	C3N-00217_TP	1458547	176557063	72399359	44	12482											
RASAL2	0	.	GRCh38	chr1	178466024	178466024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggagcagcagatgcagaaGctgctgctggaatacaaggc	13	5	14	9	0	0	2	0	0	0	2	0	4	0	4	0	3	7	6	0	3	4	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3492G>C	p.Lys1164Asn	p.K1164N	ENST00000367649	16/18	258	242	16	182	182	0	strelka-varscan-mutect	RASAL2,missense_variant,p.Lys1023Asn,ENST00000462775,NM_004841.3;RASAL2,missense_variant,p.Lys1164Asn,ENST00000367649,NM_170692.2;RASAL2,missense_variant,p.Lys574Asn,ENST00000433130,;	C	ENST00000367649	Transcript	missense_variant	3844/4378	3492/3843	1164/1280	K/N	aaG/aaC		1		1	RASAL2	HGNC	HGNC:9874	protein_coding	YES	CCDS1321.2	ENSP00000356621	Q9UJF2		UPI00019B254F	NM_170692.2	deleterious(0)		16/18		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12004,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF52																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	178466024	178466024	G	C	1	0	0	0	0	1	0	0	0	13225	962	34	4		4	RASAL2	1	178466024	Missense_Mutation	SNP	G	C3N-00217_TP	1908961	178466024	70490398	45	12483											
CACNA1E	0	.	GRCh38	chr1	181798735	181798735	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctggcagatgcccaacggGcactatcggcggcggaggcg	8	4	17	12	5	0	1	0	0	0	1	1	2	0	2	1	6	3	3	1	6	2	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.6843G>T	p.=	p.G2281G	ENST00000367573	48/48	99	90	9	35	35	0	strelka-varscan-mutect	CACNA1E,synonymous_variant,p.=,ENST00000621791,NM_001205294.1;CACNA1E,synonymous_variant,p.=,ENST00000621551,;CACNA1E,synonymous_variant,p.=,ENST00000367567,;CACNA1E,synonymous_variant,p.=,ENST00000358338,;CACNA1E,synonymous_variant,p.=,ENST00000367570,NM_000721.3;CACNA1E,synonymous_variant,p.=,ENST00000367573,NM_001205293.1;CACNA1E,synonymous_variant,p.=,ENST00000357570,;CACNA1E,synonymous_variant,p.=,ENST00000360108,;	T	ENST00000367573	Transcript	synonymous_variant	6843/7067	6843/6942	2281/2313	G	ggG/ggT		1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1			48/48																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	181798735	181798735	G	T	1	0	0	0	0	0	0	0	1	2230	1190	42	2		2	CACNA1E	1	181798735	Silent	SNP	G	C3N-00217_TP	3332711	181798735	67157687	46	12484											
ZNF648	0	.	GRCh38	chr1	182057448	182057448	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggggaaacacaacagaGaagagttccctgcggacgtg	12	5	14	10	2	0	2	0	0	0	2	1	5	1	4	2	3	3	1	2	3	3	1	rs778261209		C3N-00217_TP	C3N-00217_NB	G	G																c.563C>A	p.Ser188Tyr	p.S188Y	ENST00000339948	2/2	478	413	65	311	309	2	strelka-varscan-mutect	ZNF648,missense_variant,p.Ser188Tyr,ENST00000339948,NM_001009992.1;	T	ENST00000339948	Transcript	missense_variant	771/3649	563/1707	188/568	S/Y	tCt/tAt	rs778261209,COSM900610	1		-1	ZNF648	HGNC	HGNC:18190	protein_coding	YES	CCDS30952.1	ENSP00000344129	Q5T619		UPI0000161414	NM_001009992.1	deleterious(0.02)		2/2		hmmpanther:PTHR24376:SF1,hmmpanther:PTHR24376											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs778261209	.												T	3	4	43	182057448	182057448	G	T	1	0	0	0	0	1	0	0	0	18636	942	33	2		2	ZNF648	1	182057448	Missense_Mutation	SNP	G	C3N-00217_TP	258713	182057448	66898974	47	12485											
HMCN1	0	.	GRCh38	chr1	185911698	185911698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgataaaaaagggatttgGcctgcatgagctattaaata	15	11	10	5	0	0	2	0	2	0	0	0	3	0	3	1	2	2	3	1	2	7	5	rs763207902		C3N-00217_TP	C3N-00217_NB	G	G																c.818G>T	p.Gly273Val	p.G273V	ENST00000271588	6/107	428	386	42	388	388	0	strelka-varscan-mutect	HMCN1,missense_variant,p.Gly273Val,ENST00000271588,NM_031935.2;	T	ENST00000271588	Transcript	missense_variant	1047/18208	818/16908	273/5635	G/V	gGc/gTc	rs763207902	1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2	deleterious(0)		6/107		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF678																	MODERATE	1	SNV	1			1										PASS		rs763207902	.												T	3	4	43	185911698	185911698	G	T	1	0	0	0	0	1	0	0	0	7111	1203	42	2		2	HMCN1	1	185911698	Missense_Mutation	SNP	G	C3N-00217_TP	3854250	185911698	63044724	48	12486											
RGS2	0	.	GRCh38	chr1	192811480	192811480	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgctttacaactgccCagaaaagggtatacagcttg	11	10	11	9	0	0	1	0	0	0	1	0	1	0	1	1	2	6	4	1	2	6	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.520C>T	p.Gln174Ter	p.Q174*	ENST00000235382	5/5	256	223	33	241	241	0	strelka-varscan-mutect	RGS2,stop_gained,p.Gln174Ter,ENST00000235382,NM_002923.3;RGS2,downstream_gene_variant,,ENST00000483295,;RGS2,downstream_gene_variant,,ENST00000464302,;RGS2,downstream_gene_variant,,ENST00000487236,;	T	ENST00000235382	Transcript	stop_gained	551/1354	520/636	174/211	Q/*	Cag/Tag		1		1	RGS2	HGNC	HGNC:9998	protein_coding	YES	CCDS1377.1	ENSP00000235382	P41220	A0A024R939	UPI0000044575	NM_002923.3			5/5		PROSITE_profiles:PS50132,hmmpanther:PTHR10845:SF43,hmmpanther:PTHR10845,Pfam_domain:PF00615,Gene3D:1.10.167.10,SMART_domains:SM00315,Superfamily_domains:SSF48097,Prints_domain:PR01301																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	43	192811480	192811480	C	T	1	0	0	0	0	0	1	0	0	13473	595	21	3		3	RGS2	1	192811480	Nonsense_Mutation	SNP	C	C3N-00217_TP	6899782	192811480	56144942	49	12487											
DDX59	0	.	GRCh38	chr1	200648548	200648548	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgctcactacaacttcaTagtctccttcaagtaatccc	10	13	4	14	0	4	0	3	0	1	0	6	0	5	0	2	0	3	2	2	0	5	5	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.1487A>T	p.Tyr496Phe	p.Y496F	ENST00000331314	7/8	144	125	19	123	123	0	strelka-varscan-mutect	DDX59,missense_variant,p.Tyr496Phe,ENST00000447706,;DDX59,missense_variant,p.Tyr496Phe,ENST00000331314,NM_001031725.4;DDX59,missense_variant,p.Tyr134Phe,ENST00000413408,;DDX59,missense_variant,p.Tyr139Phe,ENST00000433235,;DDX59,missense_variant,p.Tyr74Phe,ENST00000429498,;DDX59,missense_variant,p.Tyr33Phe,ENST00000452560,;DDX59,downstream_gene_variant,,ENST00000453944,;	A	ENST00000331314	Transcript	missense_variant	1701/2289	1487/1860	496/619	Y/F	tAt/tTt		1		-1	DDX59	HGNC	HGNC:25360	protein_coding	YES	CCDS30964.1	ENSP00000330460	Q5T1V6		UPI00001AFE4C	NM_001031725.4	tolerated(0.35)		7/8		PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF42,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1331418211	.												A	3	1	43	200648548	200648548	T	A	1	0	0	0	0	1	0	0	0	4179	1406	49	4		4	DDX59	1	200648548	Missense_Mutation	SNP	T	C3N-00217_TP	7837068	200648548	48307874	50	12488											
C1orf106	0	.	GRCh38	chr1	200911496	200911496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagggccgaggtcgcagcGcctttccccgccgccgcccc	3	5	13	20	6	0	1	0	1	0	0	2	2	1	1	8	2	1	1	8	2	0	1	rs745954951		C3N-00217_TP	C3N-00217_NB	G	G																c.1003G>T	p.Ala335Ser	p.A335S	ENST00000413687	9/10	143	119	24	79	79	0	strelka-varscan-mutect	C1orf106,missense_variant,p.Ala420Ser,ENST00000367342,NM_018265.3;C1orf106,missense_variant,p.Ala335Ser,ENST00000413687,NM_001142569.2;C1orf106,non_coding_transcript_exon_variant,,ENST00000526172,;C1orf106,upstream_gene_variant,,ENST00000465162,;C1orf106,downstream_gene_variant,,ENST00000531649,;	T	ENST00000413687	Transcript	missense_variant	1364/2197	1003/1737	335/578	A/S	Gcc/Tcc	rs745954951	1		1	C1orf106	HGNC	HGNC:25599	protein_coding	YES	CCDS44292.1	ENSP00000392105	Q3KP66		UPI0000204714	NM_001142569.2	tolerated(0.2)		9/10		hmmpanther:PTHR16093,hmmpanther:PTHR16093:SF4																	MODERATE	1	SNV	2			1										PASS		rs745954951	.												T	3	4	43	200911496	200911496	G	T	1	0	0	0	0	1	0	0	0	1956	1087	38	1		1	C1orf106	1	200911496	Missense_Mutation	SNP	G	C3N-00217_TP	262948	200911496	48044926	51	12489											
CACNA1S	0	.	GRCh38	chr1	201087903	201087903	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgacaaaatagatccagggCcactcattcccgatggcatc	12	8	9	12	1	1	2	1	1	0	1	4	3	3	2	3	2	0	1	3	2	3	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.927G>T	p.Trp309Cys	p.W309C	ENST00000362061	7/44	378	182	196	259	259	0	strelka-varscan-mutect	CACNA1S,missense_variant,p.Trp309Cys,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Trp309Cys,ENST00000367338,;	A	ENST00000362061	Transcript	missense_variant	1154/6166	927/5622	309/1873	W/C	tgG/tgT		1		-1	CACNA1S	HGNC	HGNC:1397	protein_coding	YES	CCDS1407.1	ENSP00000355192	Q13698		UPI000020471D	NM_000069.2	deleterious(0)		7/44		Pfam_domain:PF00520,Prints_domain:PR00167,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	201087903	201087903	C	A	1	0	0	0	0	1	0	0	0	2235	740	26	2		2	CACNA1S	1	201087903	Missense_Mutation	SNP	C	C3N-00217_TP	176407	201087903	47868519	52	12490											
PPP1R15B	0	.	GRCh38	chr1	204409714	204409714	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttaaaatttaaagggttGtaggggtcatcagaattaca	14	12	10	5	0	2	1	2	0	0	1	2	1	2	1	1	3	1	2	1	3	7	6	rs779920714		C3N-00217_TP	C3N-00217_NB	G	G																c.1698C>A	p.Tyr566Ter	p.Y566*	ENST00000367188	1/2	252	217	35	204	204	0	strelka-varscan-mutect	PPP1R15B,stop_gained,p.Tyr566Ter,ENST00000367188,NM_032833.4;RP11-739N20.2,intron_variant,,ENST00000443515,;	T	ENST00000367188	Transcript	stop_gained	2078/5227	1698/2142	566/713	Y/*	taC/taA	rs779920714	1		-1	PPP1R15B	HGNC	HGNC:14951	protein_coding	YES	CCDS1445.1	ENSP00000356156	Q5SWA1		UPI0000EE3EB3	NM_032833.4			1/2		hmmpanther:PTHR16489,hmmpanther:PTHR16489:SF11,Pfam_domain:PF10488																	HIGH	1	SNV	1			1										PASS		rs779920714	.												T	4	4	43	204409714	204409714	G	T	1	0	0	0	0	0	1	0	0	12474	1372	48	2		2	PPP1R15B	1	204409714	Nonsense_Mutation	SNP	G	C3N-00217_TP	3321811	204409714	44546708	53	12491											
CR2	0	.	GRCh38	chr1	207469764	207469764	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactcactagcaaatgtctCatatggaagcatagtcactt	14	11	6	10	0	3	0	3	0	1	0	4	1	3	1	0	1	3	2	0	1	6	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.887C>A	p.Ser296Ter	p.S296*	ENST00000367057	6/20	190	82	108	156	156	0	strelka-varscan-mutect	CR2,stop_gained,p.Ser296Ter,ENST00000367057,NM_001006658.2;CR2,stop_gained,p.Ser296Ter,ENST00000367058,NM_001877.4;CR2,stop_gained,p.Ser296Ter,ENST00000367059,;CR2,non_coding_transcript_exon_variant,,ENST00000485707,;CR2,downstream_gene_variant,,ENST00000479186,;CR2,upstream_gene_variant,,ENST00000475194,;	A	ENST00000367057	Transcript	stop_gained	1076/4240	887/3279	296/1092	S/*	tCa/tAa		1		1	CR2	HGNC	HGNC:2336	protein_coding	YES	CCDS31007.1	ENSP00000356024	P20023		UPI0000366600	NM_001006658.2			6/20		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF391,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	43	207469764	207469764	C	A	1	0	0	0	0	0	1	0	0	3640	838	29	2		2	CR2	1	207469764	Nonsense_Mutation	SNP	C	C3N-00217_TP	3060050	207469764	41486658	54	12492											
CENPF	0	.	GRCh38	chr1	214645582	214645582	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctccattgcattcaggtGgcagaggcagaggtgaagga	10	9	15	7	0	2	3	1	1	1	2	3	4	2	4	1	5	1	3	1	5	1	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.6012G>T	p.=	p.V2004V	ENST00000366955	13/20	288	260	28	203	202	1	strelka-varscan-mutect	CENPF,synonymous_variant,p.=,ENST00000366955,NM_016343.3;CENPF,upstream_gene_variant,,ENST00000614578,;CENPF,upstream_gene_variant,,ENST00000467765,;	T	ENST00000366955	Transcript	synonymous_variant	6180/10307	6012/9345	2004/3114	V	gtG/gtT		1		1	CENPF	HGNC	HGNC:1857	protein_coding	YES	CCDS31023.1	ENSP00000355922	P49454		UPI00001AE985	NM_016343.3			13/20		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10473,hmmpanther:PTHR18874																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	214645582	214645582	G	T	1	0	0	0	0	0	0	0	1	2939	1335	47	2		2	CENPF	1	214645582	Silent	SNP	G	C3N-00217_TP	7175818	214645582	34310840	55	12493											
LEFTY1	0	.	GRCh38	chr1	225886841	225886841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgcctccctccttgatGctgacgatcatgggcagcga	6	10	11	14	2	1	2	1	2	0	0	4	4	4	2	4	1	3	2	4	1	0	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.987C>A	p.Ser329Arg	p.S329R	ENST00000272134	4/4	418	205	213	239	238	1	strelka-varscan	LEFTY1,missense_variant,p.Ser329Arg,ENST00000272134,NM_020997.3;RP4-559A3.7,3_prime_UTR_variant,,ENST00000432920,;TMEM63A,upstream_gene_variant,,ENST00000366835,NM_014698.2;LEFTY1,downstream_gene_variant,,ENST00000492457,;	T	ENST00000272134	Transcript	missense_variant	1067/1626	987/1101	329/366	S/R	agC/agA		1		-1	LEFTY1	HGNC	HGNC:6552	protein_coding	YES	CCDS1548.1	ENSP00000272134	O75610		UPI000003721B	NM_020997.3	tolerated(0.15)		4/4		PROSITE_profiles:PS51362,hmmpanther:PTHR11848:SF167,hmmpanther:PTHR11848,Gene3D:2.10.90.10,PIRSF_domain:PIRSF037402,Pfam_domain:PF00019,SMART_domains:SM00204,Superfamily_domains:SSF57501,Prints_domain:PR01427																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	225886841	225886841	G	T	1	0	0	0	0	1	0	0	0	8623	1310	46	2		2	LEFTY1	1	225886841	Missense_Mutation	SNP	G	C3N-00217_TP	11241259	225886841	23069581	56	12494											
PYCR2	0	.	GRCh38	chr1	225921857	225921857	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagcaaatgagggcctcaCataggcaggcccgctgccac	10	4	13	14	2	1	1	1	1	0	0	1	2	1	1	3	3	2	3	3	3	2	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.540+1G>A		p.X180_splice	ENST00000343818		230	91	139	153	153	0	strelka-varscan	PYCR2,splice_donor_variant,,ENST00000343818,NM_013328.3;PYCR2,splice_donor_variant,,ENST00000612651,;PYCR2,splice_donor_variant,,ENST00000489681,;RP4-559A3.7,intron_variant,,ENST00000432920,;PYCR2,intron_variant,,ENST00000612039,NM_001271681.1;PYCR2,downstream_gene_variant,,ENST00000472798,;PYCR2,downstream_gene_variant,,ENST00000618782,;PYCR2,splice_donor_variant,,ENST00000478402,;PYCR2,splice_donor_variant,,ENST00000446534,;PYCR2,splice_donor_variant,,ENST00000466127,;PYCR2,downstream_gene_variant,,ENST00000467298,;	T	ENST00000343818	Transcript	splice_donor_variant	-/1689	540/963	180/320				1		-1	PYCR2	HGNC	HGNC:30262	protein_coding	YES	CCDS31043.1	ENSP00000342502	Q96C36	A0A0S2Z5U6	UPI000006F2BB	NM_013328.3				4/6																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	43	225921857	225921857	C	T	1	0	0	0	0	0	0	1	0	13011	492	17	3		3	PYCR2	1	225921857	Splice_Site	SNP	C	C3N-00217_TP	35016	225921857	23034565	57	12495											
SIPA1L2	0	.	GRCh38	chr1	232403516	232403516	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctcttgggccccttcCaggtcctgcccatgctgcat	4	10	11	16	0	1	0	0	0	1	0	3	0	3	0	5	3	4	4	5	3	0	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.4872G>T	p.=	p.L1624L	ENST00000366630	20/22	189	164	25	113	113	0	strelka-varscan	SIPA1L2,synonymous_variant,p.=,ENST00000366630,;SIPA1L2,synonymous_variant,p.=,ENST00000262861,NM_020808.3;SIPA1L2,synonymous_variant,p.=,ENST00000308942,;SIPA1L2,upstream_gene_variant,,ENST00000494056,;SIPA1L2,downstream_gene_variant,,ENST00000495863,;	A	ENST00000366630	Transcript	synonymous_variant	5231/6690	4872/5169	1624/1722	L	ctG/ctT		1		-1	SIPA1L2	HGNC	HGNC:23800	protein_coding	YES	CCDS41474.1	ENSP00000355589	Q9P2F8		UPI00001D7D6A				20/22		hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711,Pfam_domain:PF11881																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	43	232403516	232403516	C	A	1	0	0	0	0	0	0	0	1	14593	581	21	2		2	SIPA1L2	1	232403516	Silent	SNP	C	C3N-00217_TP	6481659	232403516	16552906	58	12496											
IRF2BP2	0	.	GRCh38	chr1	234608793	234608793	+	Silent	SNP	G	G	A																															acggatgccggccgcttgtgGgcgcccagatcggtgggctg																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.702C>T	p.=	p.A234A	ENST00000366609	1/2	65	28	37	56	56	0	strelka-varscan-mutect	IRF2BP2,synonymous_variant,p.=,ENST00000366609,NM_182972.2;IRF2BP2,synonymous_variant,p.=,ENST00000366610,NM_001077397.1;RP4-781K5.2,intron_variant,,ENST00000436039,;IRF2BP2,upstream_gene_variant,,ENST00000491430,;	A	ENST00000366609	Transcript	synonymous_variant	733/4663	702/1764	234/587	A	gcC/gcT		1		-1	IRF2BP2	HGNC	HGNC:21729	protein_coding	YES	CCDS1602.1	ENSP00000355568	Q7Z5L9		UPI000004FA32	NM_182972.2			1/2		hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF18																	LOW	1	SNV	1			1										PASS		rs1340899110	.												A	2	1	43	234608793	234608793	G	A	1	0	0	0	0	0	0	0	1	7736	1219	43	3		3	IRF2BP2	1	234608793	Silent	SNP	G	C3N-00217_TP	2205277	234608793	14347629	59	12497	285	2									
IRF2BP2	0	.	GRCh38	chr1	234608794	234608794	+	Missense_Mutation	SNP	G	G	A																															cggatgccggccgcttgtggGcgcccagatcggtgggctgc																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.701C>T	p.Ala234Val	p.A234V	ENST00000366609	1/2	66	28	38	56	56	0	strelka-varscan-mutect	IRF2BP2,missense_variant,p.Ala234Val,ENST00000366609,NM_182972.2;IRF2BP2,missense_variant,p.Ala234Val,ENST00000366610,NM_001077397.1;RP4-781K5.2,intron_variant,,ENST00000436039,;IRF2BP2,upstream_gene_variant,,ENST00000491430,;	A	ENST00000366609	Transcript	missense_variant	732/4663	701/1764	234/587	A/V	gCc/gTc		1		-1	IRF2BP2	HGNC	HGNC:21729	protein_coding	YES	CCDS1602.1	ENSP00000355568	Q7Z5L9		UPI000004FA32	NM_182972.2	tolerated(0.6)		1/2		hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	234608794	234608794	G	A	1	0	0	0	0	1	0	0	0	7736	1203	42	3		3	IRF2BP2	1	234608794	Missense_Mutation	SNP	G	C3N-00217_TP	1	234608794	14347628	60	12498	285	2									
GPR137B	0	.	GRCh38	chr1	236178502	236178502	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtaaagacgggaaatTgggagaggaaggttatcgtc	12	9	16	4	2	0	2	0	0	0	2	2	5	0	4	0	5	1	3	0	5	5	3			C3N-00217_TP	C3N-00217_NB	T	T																c.553T>A	p.Trp185Arg	p.W185R	ENST00000366592	3/7	377	333	44	284	283	1	strelka-varscan-mutect	GPR137B,missense_variant,p.Trp185Arg,ENST00000366592,NM_003272.3;GPR137B,missense_variant,p.Trp49Arg,ENST00000454895,;GPR137B,stop_gained,p.Leu168Ter,ENST00000419162,;GPR137B,intron_variant,,ENST00000366591,;	A	ENST00000366592	Transcript	missense_variant	644/2042	553/1200	185/399	W/R	Tgg/Agg	COSM425652	1		1	GPR137B	HGNC	HGNC:11862	protein_coding	YES	CCDS1609.1	ENSP00000355551	O60478		UPI0000050441	NM_003272.3	tolerated(0.35)		3/7		hmmpanther:PTHR15146:SF0,hmmpanther:PTHR15146											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	43	236178502	236178502	T	A	1	0	0	0	0	1	0	0	0	6532	1812	63	4		4	GPR137B	1	236178502	Missense_Mutation	SNP	T	C3N-00217_TP	1569708	236178502	12777920	61	12499											
ACTN2	0	.	GRCh38	chr1	236761075	236761075	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgggcaaggcaccgtcAccttccaatccttcatcgac	10	7	7	17	3	2	0	2	0	0	0	5	1	4	0	5	2	1	2	5	2	3	2	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.2428A>C	p.Thr810Pro	p.T810P	ENST00000542672	20/21	860	362	498	569	569	0	strelka-varscan-mutect	ACTN2,missense_variant,p.Thr602Pro,ENST00000546208,NM_001278344.1;ACTN2,missense_variant,p.Thr810Pro,ENST00000542672,NM_001278343.1;ACTN2,missense_variant,p.Thr810Pro,ENST00000366578,NM_001103.3;ACTN2,non_coding_transcript_exon_variant,,ENST00000461367,;	C	ENST00000542672	Transcript	missense_variant	2648/4906	2428/2685	810/894	T/P	Acc/Ccc		1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1	tolerated(0.11)		20/21		Gene3D:1.10.238.10,Pfam_domain:PF13833,PROSITE_profiles:PS50222,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,SMART_domains:SM00054,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	236761075	236761075	A	C	1	0	0	0	0	1	0	0	0	249	159	6	5		5	ACTN2	1	236761075	Missense_Mutation	SNP	A	C3N-00217_TP	582573	236761075	12195347	62	12500											
MTR	0	.	GRCh38	chr1	236895414	236895414	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgtgggcctactgtggCagtgagcagctggacgtcgc	7	8	16	10	2	0	1	0	1	0	0	1	3	0	2	1	3	4	3	1	3	2	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.3462C>T	p.=	p.G1154G	ENST00000366577	31/33	512	466	46	346	346	0	strelka-varscan-mutect	MTR,synonymous_variant,p.=,ENST00000366577,NM_000254.2;MTR,synonymous_variant,p.=,ENST00000535889,NM_001291939.1;MTR,synonymous_variant,p.=,ENST00000366576,NM_001291940.1;MTR,non_coding_transcript_exon_variant,,ENST00000470570,;	T	ENST00000366577	Transcript	synonymous_variant	3856/10529	3462/3798	1154/1265	G	ggC/ggT		1		1	MTR	HGNC	HGNC:7468	protein_coding	YES	CCDS1614.1	ENSP00000355536	Q99707		UPI0000036BC4	NM_000254.2			31/33		PROSITE_profiles:PS50974,Gene3D:2o2kA01,Pfam_domain:PF02965,TIGRFAM_domain:TIGR02082,PIRSF_domain:PIRSF000381,Superfamily_domains:SSF56507																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	236895414	236895414	C	T	1	0	0	0	0	0	0	0	1	9944	697	25	3		3	MTR	1	236895414	Silent	SNP	C	C3N-00217_TP	134339	236895414	12061008	63	12501											
ZP4	0	.	GRCh38	chr1	237885574	237885574	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccgtagtaagagccatagTttttatctgcaagaggcaga	13	10	10	8	1	1	3	0	0	1	3	1	3	1	3	2	1	2	5	2	1	5	6	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.977A>T	p.Asn326Ile	p.N326I	ENST00000611898	8/13	124	106	18	93	92	1	strelka-varscan-mutect	ZP4,missense_variant,p.Asn326Ile,ENST00000611898,NM_021186.3;ZP4,missense_variant,p.Asn326Ile,ENST00000366570,;RP11-193H5.1,intron_variant,,ENST00000450451,;	A	ENST00000611898	Transcript	missense_variant	1264/2474	977/1623	326/540	N/I	aAc/aTc		1		-1	ZP4	HGNC	HGNC:15770	protein_coding	YES	CCDS1615.1	ENSP00000482304	Q12836		UPI000006F0E4	NM_021186.3	tolerated(0.11)		8/13		Pfam_domain:PF00100,PROSITE_profiles:PS51034,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,SMART_domains:SM00241																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	43	237885574	237885574	T	A	1	0	0	0	0	1	0	0	0	18810	1725	60	4		4	ZP4	1	237885574	Missense_Mutation	SNP	T	C3N-00217_TP	990160	237885574	11070848	64	12502											
WDR64	0	.	GRCh38	chr1	241674660	241674660	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtagtagaagacgagaTgtgattaagagcattgtcaa	16	9	12	4	1	1	5	1	1	0	4	1	6	1	5	0	1	1	3	0	1	5	4	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.396T>C	p.=	p.D132D	ENST00000366552	4/27	110	97	13	98	98	0	strelka-varscan-mutect	WDR64,synonymous_variant,p.=,ENST00000366552,NM_144625.4;WDR64,non_coding_transcript_exon_variant,,ENST00000461971,;WDR64,non_coding_transcript_exon_variant,,ENST00000496914,;OPN3,intron_variant,,ENST00000463155,;	C	ENST00000366552	Transcript	synonymous_variant	603/4371	396/3246	132/1081	D	gaT/gaC		1		1	WDR64	HGNC	HGNC:26570	protein_coding	YES		ENSP00000355510	B1ANS9		UPI0000519142	NM_144625.4			4/27		Superfamily_domains:SSF50978																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	43	241674660	241674660	T	C	1	0	0	0	0	0	0	0	1	17874	1461	51	5		5	WDR64	1	241674660	Silent	SNP	T	C3N-00217_TP	3789086	241674660	7281762	65	12503											
KIF26B	0	.	GRCh38	chr1	245367189	245367189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccagcagccttggggtcaGcaatggggcggaaaagaaga	13	4	15	9	1	1	2	1	0	0	2	1	3	1	3	2	5	3	2	2	5	4	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.821G>T	p.Ser274Ile	p.S274I	ENST00000407071	3/15	380	335	45	275	275	0	strelka-varscan-mutect	KIF26B,missense_variant,p.Ser274Ile,ENST00000407071,NM_018012.3;KIF26B,non_coding_transcript_exon_variant,,ENST00000479506,;	T	ENST00000407071	Transcript	missense_variant	1261/7287	821/6327	274/2108	S/I	aGc/aTc		1		1	KIF26B	HGNC	HGNC:25484	protein_coding	YES	CCDS44342.1	ENSP00000385545	Q2KJY2		UPI0000695D71	NM_018012.3	tolerated(0.43)		3/15																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	245367189	245367189	G	T	1	0	0	0	0	1	0	0	0	8160	971	34	2		2	KIF26B	1	245367189	Missense_Mutation	SNP	G	C3N-00217_TP	3692529	245367189	3589233	66	12504											
TRIM58	0	.	GRCh38	chr1	247875963	247875963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaccgccgacctgcgcaGtgtgcaggatggagaaccat	9	7	13	12	3	0	2	0	1	0	1	0	5	0	3	4	2	3	2	4	2	1	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.935G>A	p.Ser312Asn	p.S312N	ENST00000366481	6/6	242	219	23	139	139	0	strelka-varscan-mutect	TRIM58,missense_variant,p.Ser312Asn,ENST00000366481,NM_015431.3;	A	ENST00000366481	Transcript	missense_variant	983/3225	935/1461	312/486	S/N	aGt/aAt		1		1	TRIM58	HGNC	HGNC:24150	protein_coding	YES	CCDS1636.1	ENSP00000355437	Q8NG06		UPI000020590E	NM_015431.3	deleterious(0.04)		6/6		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF393,Pfam_domain:PF13765,SMART_domains:SM00589,Superfamily_domains:SSF49899,Prints_domain:PR01407																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	247875963	247875963	G	A	1	0	0	0	0	1	0	0	0	17024	1029	36	3		3	TRIM58	1	247875963	Missense_Mutation	SNP	G	C3N-00217_TP	2508774	247875963	1080459	67	12505											
OR2L3	0	.	GRCh38	chr1	248061209	248061209	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagggccatcaatcatttCttctgtgatgtcccagcaat	9	13	7	12	0	4	1	2	1	2	0	6	1	6	1	3	1	1	1	3	1	2	2	rs761253989		C3N-00217_TP	C3N-00217_NB	C	C																c.528C>G	p.Phe176Leu	p.F176L	ENST00000359959	1/1	196	152	44	197	197	0	strelka-varscan-mutect	OR2L3,missense_variant,p.Phe176Leu,ENST00000359959,NM_001004687.1;	G	ENST00000359959	Transcript	missense_variant	528/939	528/939	176/312	F/L	ttC/ttG	rs761253989	1		1	OR2L3	HGNC	HGNC:15009	protein_coding	YES	CCDS31104.1	ENSP00000353044	Q8NG85		UPI0000061EB8	NM_001004687.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF166,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs761253989	.												G	3	3	43	248061209	248061209	C	G	1	0	0	0	0	1	0	0	0	11086	912	32	4		4	OR2L3	1	248061209	Missense_Mutation	SNP	C	C3N-00217_TP	185246	248061209	895213	68	12506											
OR2T12	0	.	GRCh38	chr1	248295076	248295076	+	Missense_Mutation	SNP	C	C	A																															agtgatcgatctcgtgtgcaCcgcaatatgggaagctcagg																								rs763802864		C3N-00217_TP	C3N-00217_NB	C	C																c.503G>T	p.Gly168Val	p.G168V	ENST00000317996	1/1	459	406	53	271	270	1	varscan-mutect	OR2T12,missense_variant,p.Gly168Val,ENST00000317996,NM_001004692.1;	A	ENST00000317996	Transcript	missense_variant	503/963	503/963	168/320	G/V	gGt/gTt	rs763802864	1		-1	OR2T12	HGNC	HGNC:19592	protein_coding	YES	CCDS31110.1	ENSP00000324583	Q8NG77		UPI000004B235	NM_001004692.1	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs763802864	.												A	3	1	43	248295076	248295076	C	A	1	0	0	0	0	1	0	0	0	11096	507	18	2		2	OR2T12	1	248295076	Missense_Mutation	SNP	C	C3N-00217_TP	233867	248295076	661346	69	12507	286	2									
OR2T12	0	.	GRCh38	chr1	248295077	248295077	+	Missense_Mutation	SNP	C	C	A																															gtgatcgatctcgtgtgcacCgcaatatgggaagctcaggg																								rs139522908		C3N-00217_TP	C3N-00217_NB	C	C																c.502G>T	p.Gly168Cys	p.G168C	ENST00000317996	1/1	448	394	54	260	259	1	varscan-mutect	OR2T12,missense_variant,p.Gly168Cys,ENST00000317996,NM_001004692.1;	A	ENST00000317996	Transcript	missense_variant	502/963	502/963	168/320	G/C	Ggt/Tgt	rs139522908	1		-1	OR2T12	HGNC	HGNC:19592	protein_coding	YES	CCDS31110.1	ENSP00000324583	Q8NG77		UPI000004B235	NM_001004692.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs139522908	.												A	3	1	43	248295077	248295077	C	A	1	0	0	0	0	1	0	0	0	11096	652	23	1		1	OR2T12	1	248295077	Missense_Mutation	SNP	C	C3N-00217_TP	1	248295077	661345	70	12508	286	2									
OR2T2	0	.	GRCh38	chr1	248453623	248453623	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaagataaagtggtgTctgccttctacaccatcctc	12	10	8	11	0	2	2	0	0	2	2	4	3	3	2	3	1	2	0	3	1	4	3	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.826T>A	p.Ser276Thr	p.S276T	ENST00000342927	1/1	137	112	25	147	147	0	strelka-varscan-mutect	OR2T2,missense_variant,p.Ser276Thr,ENST00000342927,NM_001004136.1;	A	ENST00000342927	Transcript	missense_variant	826/975	826/975	276/324	S/T	Tct/Act		1		1	OR2T2	HGNC	HGNC:14725	protein_coding	YES	CCDS31116.1	ENSP00000343062	Q6IF00		UPI0000048DB0	NM_001004136.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	43	248453623	248453623	T	A	1	0	0	0	0	1	0	0	0	11097	1667	58	4		4	OR2T2	1	248453623	Missense_Mutation	SNP	T	C3N-00217_TP	158546	248453623	502799	71	12509											
OR2T34	0	.	GRCh38	chr1	248573916	248573916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagtgaagatggtgtaaaagGcagacaccatcatgtcctgc	13	8	12	8	0	1	3	1	1	0	2	2	4	2	3	2	2	1	2	2	2	3	1	rs779981033		C3N-00217_TP	C3N-00217_NB	G	G																c.842C>A	p.Ala281Asp	p.A281D	ENST00000328782	1/1	69	62	7	47	47	0	varscan-mutect	OR2T34,missense_variant,p.Ala281Asp,ENST00000328782,NM_001001821.1;	T	ENST00000328782	Transcript	missense_variant	842/957	842/957	281/318	A/D	gCc/gAc	rs779981033	1		-1	OR2T34	HGNC	HGNC:31256	protein_coding	YES	CCDS31120.1	ENSP00000330904	Q8NGX1		UPI0000061ED4	NM_001001821.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs779981033	.												T	3	4	43	248573916	248573916	G	T	1	0	0	0	0	1	0	0	0	11102	1203	42	2		2	OR2T34	1	248573916	Missense_Mutation	SNP	G	C3N-00217_TP	120293	248573916	382506	72	12510											
OR2T10	0	.	GRCh38	chr1	248593758	248593758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccacccagggtctggttgGccagccgcatgctgtatgat	7	9	12	13	1	1	1	0	1	1	0	1	1	1	1	4	3	2	4	4	3	1	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.11C>A	p.Ala4Asp	p.A4D	ENST00000330500	1/1	105	41	64	93	93	0	strelka-varscan-mutect	OR2T10,missense_variant,p.Ala4Asp,ENST00000330500,NM_001004693.1;Y_RNA,downstream_gene_variant,,ENST00000364732,;	T	ENST00000330500	Transcript	missense_variant	11/939	11/939	4/312	A/D	gCc/gAc		1		-1	OR2T10	HGNC	HGNC:19573	protein_coding	YES	CCDS31121.1	ENSP00000329210	Q8NGZ9	A0A126GV79	UPI000004F23B	NM_001004693.1	tolerated(0.34)		1/1		hmmpanther:PTHR26453:SF101,hmmpanther:PTHR26453,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1243389136	.												T	3	4	43	248593758	248593758	G	T	1	0	0	0	0	1	0	0	0	11095	1203	42	2		2	OR2T10	1	248593758	Missense_Mutation	SNP	G	C3N-00217_TP	19842	248593758	362664	73	12511											
TMEM18	0	.	GRCh38	chr2	677340	677340	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgacagagaaggcggaCggcatggtgttgggaagccc	10	5	18	8	2	0	2	0	1	0	1	0	6	0	4	1	5	2	3	1	5	2	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.6G>T	p.=	p.P2P	ENST00000281017	1/5	275	192	83	230	230	0	strelka-varscan-mutect	TMEM18,synonymous_variant,p.=,ENST00000281017,NM_152834.2;TMEM18,upstream_gene_variant,,ENST00000355654,;TMEM18,upstream_gene_variant,,ENST00000405941,;AC092159.2,non_coding_transcript_exon_variant,,ENST00000445418,;AC092159.2,upstream_gene_variant,,ENST00000435573,;TMEM18,synonymous_variant,p.=,ENST00000432667,;TMEM18,upstream_gene_variant,,ENST00000477202,;TMEM18,upstream_gene_variant,,ENST00000461640,;TMEM18,upstream_gene_variant,,ENST00000418447,;	A	ENST00000281017	Transcript	synonymous_variant	100/2762	6/423	2/140	P	ccG/ccT		1		-1	TMEM18	HGNC	HGNC:25257	protein_coding	YES	CCDS33141.1	ENSP00000281017	Q96B42		UPI0000208A7D	NM_152834.2			1/5		Low_complexity_(Seg):seg,hmmpanther:PTHR22593																	LOW	1	SNV	1			1										PASS		rs1205828241	.												A	2	1	43	677340	677340	C	A	1	0	0	0	0	0	0	0	1	16543	523	19	1		1	TMEM18	2	677340	Silent	SNP	C	C3N-00217_TP		677340	241516189	74	12512											
SNTG2	0	.	GRCh38	chr2	1173100	1173100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttttgctgcagggtccccaGggccatccagcgaccacagc	7	7	12	15	1	0	0	0	0	0	0	2	1	2	0	5	2	4	3	5	2	0	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.508G>T	p.Gly170Trp	p.G170W	ENST00000308624	8/17	147	101	46	140	139	1	strelka-varscan-mutect	SNTG2,missense_variant,p.Gly170Trp,ENST00000308624,NM_018968.3;SNTG2,intron_variant,,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000467759,;SNTG2,non_coding_transcript_exon_variant,,ENST00000463442,;SNTG2,non_coding_transcript_exon_variant,,ENST00000494178,;SNTG2,non_coding_transcript_exon_variant,,ENST00000475201,;	T	ENST00000308624	Transcript	missense_variant	637/1888	508/1620	170/539	G/W	Ggg/Tgg		1		1	SNTG2	HGNC	HGNC:13741	protein_coding	YES	CCDS46220.1	ENSP00000311837	Q9NY99		UPI0000456D73	NM_018968.3	deleterious(0)		8/17		Gene3D:2.30.42.10,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF3,Low_complexity_(Seg):seg,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	1173100	1173100	G	T	1	0	0	0	0	1	0	0	0	15195	1000	35	2		2	SNTG2	2	1173100	Missense_Mutation	SNP	G	C3N-00217_TP	495760	1173100	241020429	75	12513											
SNTG2	0	.	GRCh38	chr2	1239767	1239767	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgaacaaatgctgctctccTtccgaccaggtagggtttgt	8	11	11	11	2	1	0	0	0	1	0	3	2	2	0	3	2	3	4	3	2	3	3	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.879T>A	p.=	p.P293P	ENST00000308624	11/17	236	172	64	224	224	0	strelka-varscan-mutect	SNTG2,synonymous_variant,p.=,ENST00000308624,NM_018968.3;SNTG2,synonymous_variant,p.=,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000494178,;	A	ENST00000308624	Transcript	synonymous_variant	1008/1888	879/1620	293/539	P	ccT/ccA		1		1	SNTG2	HGNC	HGNC:13741	protein_coding	YES	CCDS46220.1	ENSP00000311837	Q9NY99		UPI0000456D73	NM_018968.3			11/17		hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF3,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	43	1239767	1239767	T	A	1	0	0	0	0	0	0	0	1	15195	1596	56	4		4	SNTG2	2	1239767	Silent	SNP	T	C3N-00217_TP	66667	1239767	240953762	76	12514											
CMPK2	0	.	GRCh38	chr2	6865454	6865454	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccccgcagccggcgtcCggggtcacgggcacgcacag	5	2	17	17	7	1	0	1	0	0	0	2	0	2	0	4	5	1	3	4	5	0	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.243G>A	p.=	p.P81P	ENST00000256722	1/5	25	14	11	26	26	0	strelka-mutect	CMPK2,synonymous_variant,p.=,ENST00000256722,NM_207315.3;CMPK2,synonymous_variant,p.=,ENST00000404168,NM_001256477.1;CMPK2,synonymous_variant,p.=,ENST00000458098,NM_001256478.1;RSAD2,upstream_gene_variant,,ENST00000442639,;CMPK2,intron_variant,,ENST00000478738,;CMPK2,intron_variant,,ENST00000465619,;CMPK2,intron_variant,,ENST00000470479,;RSAD2,upstream_gene_variant,,ENST00000474872,;CMPK2,upstream_gene_variant,,ENST00000491738,;	T	ENST00000256722	Transcript	synonymous_variant	243/2884	243/1350	81/449	P	ccG/ccA		1		-1	CMPK2	HGNC	HGNC:27015	protein_coding	YES	CCDS42648.1	ENSP00000256722	Q5EBM0		UPI000016014D	NM_207315.3			1/5		hmmpanther:PTHR10344:SF3,hmmpanther:PTHR10344,PIRSF_domain:PIRSF019736																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	6865454	6865454	C	T	1	0	0	0	0	0	0	0	1	3356	639	23	1		1	CMPK2	2	6865454	Silent	SNP	C	C3N-00217_TP	5625687	6865454	235328075	77	12515											
APOB	0	.	GRCh38	chr2	21002808	21002808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatatcccaggtttccccGgaaactggaatctggggaag	10	10	12	9	1	1	0	0	0	1	0	3	3	3	3	3	5	1	2	3	5	5	3	rs375471570		C3N-00217_TP	C3N-00217_NB	G	G																c.12614C>A	p.Pro4205Gln	p.P4205Q	ENST00000233242	29/29	52	38	14	74	74	0	strelka-varscan-mutect	APOB,missense_variant,p.Pro4205Gln,ENST00000233242,NM_000384.2;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	T	ENST00000233242	Transcript	missense_variant	12742/14121	12614/13692	4205/4563	P/Q	cCg/cAg	rs375471570,COSM2715949	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	deleterious(0)		29/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs375471570	.												T	3	4	43	21002808	21002808	G	T	1	0	0	0	0	1	0	0	0	907	1116	39	1		1	APOB	2	21002808	Missense_Mutation	SNP	G	C3N-00217_TP	14137354	21002808	221190721	78	12516											
APOB	0	.	GRCh38	chr2	21007083	21007083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgacatctctatggtgaatGgagacacttcaacattgaca	13	10	8	10	1	2	3	1	2	1	1	3	5	2	3	1	2	1	0	1	2	3	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.9785C>A	p.Pro3262Gln	p.P3262Q	ENST00000233242	26/29	327	220	107	347	346	1	strelka-varscan-mutect	APOB,missense_variant,p.Pro3262Gln,ENST00000233242,NM_000384.2;	T	ENST00000233242	Transcript	missense_variant	9913/14121	9785/13692	3262/4563	P/Q	cCa/cAa		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	tolerated(0.05)		26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	21007083	21007083	G	T	1	0	0	0	0	1	0	0	0	907	1348	47	2		2	APOB	2	21007083	Missense_Mutation	SNP	G	C3N-00217_TP	4275	21007083	221186446	79	12517											
APOB	0	.	GRCh38	chr2	21023013	21023013	+	Silent	SNP	G	G	T																															gtcacaaactccacagacacGgagggttttgccaccagttc																								rs372153434		C3N-00217_TP	C3N-00217_NB	G	G																c.2634C>A	p.=	p.S878S	ENST00000233242	18/29	266	196	70	247	247	0	strelka-varscan-mutect	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;APOB,downstream_gene_variant,,ENST00000399256,;AC010872.1,upstream_gene_variant,,ENST00000624225,;	T	ENST00000233242	Transcript	synonymous_variant	2762/14121	2634/13692	878/4563	S	tcC/tcA	rs372153434	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			18/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA04,Pfam_domain:PF09172,SMART_domains:SM01169,Superfamily_domains:SSF56968																	LOW	1	SNV	1			1										PASS		rs372153434	.												T	2	4	43	21023013	21023013	G	T	1	0	0	0	0	0	0	0	1	907	1103	39	1		1	APOB	2	21023013	Silent	SNP	G	C3N-00217_TP	15930	21023013	221170516	80	12518	287	2									
APOB	0	.	GRCh38	chr2	21023014	21023014	+	Missense_Mutation	SNP	G	G	T																															tcacaaactccacagacacgGagggttttgccaccagttca																										C3N-00217_TP	C3N-00217_NB	G	G																c.2633C>A	p.Ser878Tyr	p.S878Y	ENST00000233242	18/29	264	195	69	250	250	0	strelka-varscan-mutect	APOB,missense_variant,p.Ser878Tyr,ENST00000233242,NM_000384.2;APOB,downstream_gene_variant,,ENST00000399256,;AC010872.1,upstream_gene_variant,,ENST00000624225,;	T	ENST00000233242	Transcript	missense_variant	2761/14121	2633/13692	878/4563	S/Y	tCc/tAc	COSM1690261	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	deleterious(0)		18/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA04,Pfam_domain:PF09172,SMART_domains:SM01169,Superfamily_domains:SSF56968											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	43	21023014	21023014	G	T	1	0	0	0	0	1	0	0	0	907	1174	41	2		2	APOB	2	21023014	Missense_Mutation	SNP	G	C3N-00217_TP	1	21023014	221170515	81	12519	287	2									
CAD	0	.	GRCh38	chr2	27233809	27233809	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttcatccaggaggctaagGtgggaggctgcagacagtga	11	7	16	7	0	1	2	1	1	0	1	2	4	2	4	1	5	1	4	1	5	1	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3399+1G>C		p.X1133_splice	ENST00000264705		113	80	33	93	93	0	strelka-varscan	CAD,splice_donor_variant,,ENST00000264705,NM_004341.3;CAD,splice_donor_variant,,ENST00000403525,NM_001306079.1;CAD,upstream_gene_variant,,ENST00000458503,;CAD,downstream_gene_variant,,ENST00000464159,;CAD,splice_donor_variant,,ENST00000475695,;CAD,downstream_gene_variant,,ENST00000491891,;CAD,upstream_gene_variant,,ENST00000479002,;	C	ENST00000264705	Transcript	splice_donor_variant	-/7265	3399/6678	1133/2225				1		1	CAD	HGNC	HGNC:1424	protein_coding	YES	CCDS1742.1	ENSP00000264705	P27708		UPI000013D558	NM_004341.3				21/43																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	43	27233809	27233809	G	C	1	0	0	0	0	0	0	1	0	2255	1275	44	4		4	CAD	2	27233809	Splice_Site	SNP	G	C3N-00217_TP	6210795	27233809	214959720	82	12520											
CAD	0	.	GRCh38	chr2	27235274	27235274	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctccttctcccgcttggcGggtgctgacgtggtgttggg	1	14	15	11	3	2	1	0	1	2	0	4	1	2	1	2	4	1	3	2	4	0	4	rs749232399		C3N-00217_TP	C3N-00217_NB	G	G																c.3816G>T	p.=	p.A1272A	ENST00000264705	24/44	100	76	24	74	74	0	strelka-varscan	CAD,synonymous_variant,p.=,ENST00000264705,NM_004341.3;CAD,synonymous_variant,p.=,ENST00000403525,NM_001306079.1;CAD,upstream_gene_variant,,ENST00000456311,;CAD,upstream_gene_variant,,ENST00000458503,;CAD,downstream_gene_variant,,ENST00000464159,;CAD,upstream_gene_variant,,ENST00000491461,;CAD,non_coding_transcript_exon_variant,,ENST00000479002,;CAD,upstream_gene_variant,,ENST00000487239,;CAD,downstream_gene_variant,,ENST00000475695,;CAD,downstream_gene_variant,,ENST00000491891,;	T	ENST00000264705	Transcript	synonymous_variant	3978/7265	3816/6678	1272/2225	A	gcG/gcT	rs749232399	1		1	CAD	HGNC	HGNC:1424	protein_coding	YES	CCDS1742.1	ENSP00000264705	P27708		UPI000013D558	NM_004341.3			24/44		Gene3D:3.30.470.20,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF5,Superfamily_domains:SSF56059,TIGRFAM_domain:TIGR01369																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	27235274	27235274	G	T	1	0	0	0	0	0	0	0	1	2255	1103	39	1		1	CAD	2	27235274	Silent	SNP	G	C3N-00217_TP	1465	27235274	214958255	83	12521											
IFT172	0	.	GRCh38	chr2	27446356	27446356	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctggcagccacggtttcCtgggattaaagtcaaagcat	11	9	11	10	1	1	0	1	0	0	0	2	1	2	1	3	3	3	3	3	3	3	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.4660-1G>A		p.X1554_splice	ENST00000260570		152	142	10	118	118	0	strelka-varscan	IFT172,splice_acceptor_variant,,ENST00000260570,NM_015662.2;KRTCAP3,3_prime_UTR_variant,,ENST00000543753,NM_001168364.1;KRTCAP3,3_prime_UTR_variant,,ENST00000452499,;NRBP1,downstream_gene_variant,,ENST00000233557,NM_001321357.1;NRBP1,downstream_gene_variant,,ENST00000379863,NM_001321359.1,NM_001321361.1,NM_001321358.1;NRBP1,downstream_gene_variant,,ENST00000379852,NM_013392.2;KRTCAP3,downstream_gene_variant,,ENST00000407293,;KRTCAP3,downstream_gene_variant,,ENST00000288873,NM_001321325.1,NM_173853.3;IFT172,splice_acceptor_variant,,ENST00000507184,;IFT172,splice_acceptor_variant,,ENST00000509128,;IFT172,splice_acceptor_variant,,ENST00000420854,;IFT172,splice_acceptor_variant,,ENST00000480892,;NRBP1,downstream_gene_variant,,ENST00000460499,;NRBP1,downstream_gene_variant,,ENST00000486701,;IFT172,downstream_gene_variant,,ENST00000450564,;KRTCAP3,downstream_gene_variant,,ENST00000464699,;KRTCAP3,downstream_gene_variant,,ENST00000453171,;IFT172,upstream_gene_variant,,ENST00000494163,;KRTCAP3,downstream_gene_variant,,ENST00000494572,;IFT172,upstream_gene_variant,,ENST00000479419,;	T	ENST00000260570	Transcript	splice_acceptor_variant	-/5415	4660/5250	1554/1749				1		-1	IFT172	HGNC	HGNC:30391	protein_coding	YES	CCDS1755.1	ENSP00000260570	Q9UG01		UPI0000353ABB	NM_015662.2				42/47																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	43	27446356	27446356	C	T	1	0	0	0	0	0	0	1	0	7461	695	24	3		3	IFT172	2	27446356	Splice_Site	SNP	C	C3N-00217_TP	211082	27446356	214747173	84	12522											
C2orf16	0	.	GRCh38	chr2	27577318	27577318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccccgagttaaggatgtggGggagttatatatgaagccac	11	9	14	7	1	0	1	0	1	0	0	0	4	0	3	3	3	1	2	3	3	5	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.746G>A	p.Gly249Glu	p.G249E	ENST00000408964	1/1	171	122	49	167	167	0	strelka-varscan	C2orf16,missense_variant,p.Gly249Glu,ENST00000408964,NM_032266.3;	A	ENST00000408964	Transcript	missense_variant	797/6199	746/5955	249/1984	G/E	gGg/gAg		1		1	C2orf16	HGNC	HGNC:25275	protein_coding	YES	CCDS42666.1	ENSP00000386190	Q68DN1		UPI0000D61179	NM_032266.3	tolerated(0.49)		1/1		hmmpanther:PTHR33888																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	43	27577318	27577318	G	A	1	0	0	0	0	1	0	0	0	2032	1232	43	3		3	C2orf16	2	27577318	Missense_Mutation	SNP	G	C3N-00217_TP	130962	27577318	214616211	85	12523											
C2orf16	0	.	GRCh38	chr2	27581852	27581852	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagagaagccattgcagTccctctgagagaagccattg	11	9	11	10	0	2	4	0	2	2	2	3	6	3	4	3	0	3	1	3	0	2	2	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.5280T>C	p.=	p.S1760S	ENST00000408964	1/1	625	527	98	507	507	0	strelka-varscan	C2orf16,synonymous_variant,p.=,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271289.1,NM_001271318.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271287.1,NM_001271288.1;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000379717,;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,;	C	ENST00000408964	Transcript	synonymous_variant	5331/6199	5280/5955	1760/1984	S	agT/agC		1		1	C2orf16	HGNC	HGNC:25275	protein_coding	YES	CCDS42666.1	ENSP00000386190	Q68DN1		UPI0000D61179	NM_032266.3			1/1		hmmpanther:PTHR33888,Low_complexity_(Seg):seg																	LOW		SNV				1										PASS		.	.												C	2	2	43	27581852	27581852	T	C	1	0	0	0	0	0	0	0	1	2032	1664	58	5		5	C2orf16	2	27581852	Silent	SNP	T	C3N-00217_TP	4534	27581852	214611677	86	12524											
GALNT14	0	.	GRCh38	chr2	30955690	30955690	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtcgaggaaagtcagAgtggtgccctgggcgatgtc	7	9	17	8	2	1	1	1	0	0	1	3	4	1	2	1	4	1	1	1	4	1	0	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.597T>A	p.=	p.T199T	ENST00000324589	7/16	209	147	62	178	178	0	strelka-varscan	GALNT14,synonymous_variant,p.=,ENST00000349752,NM_024572.3;GALNT14,synonymous_variant,p.=,ENST00000406653,NM_001253827.1;GALNT14,synonymous_variant,p.=,ENST00000324589,NM_001253826.1;GALNT14,synonymous_variant,p.=,ENST00000430167,;GALNT14,non_coding_transcript_exon_variant,,ENST00000464038,;GALNT14,non_coding_transcript_exon_variant,,ENST00000481023,;GALNT14,upstream_gene_variant,,ENST00000486564,;GALNT14,downstream_gene_variant,,ENST00000496397,;GALNT14,downstream_gene_variant,,ENST00000461193,;GALNT14,3_prime_UTR_variant,,ENST00000455477,;GALNT14,3_prime_UTR_variant,,ENST00000424136,;	T	ENST00000324589	Transcript	synonymous_variant	658/2169	597/1674	199/557	T	acT/acA		1		-1	GALNT14	HGNC	HGNC:22946	protein_coding	YES	CCDS58706.1	ENSP00000314500	Q96FL9		UPI0000073A6F	NM_001253826.1			7/16		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF8,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	43	30955690	30955690	A	T	1	0	0	0	0	0	0	0	1	6080	291	11	4		4	GALNT14	2	30955690	Silent	SNP	A	C3N-00217_TP	3373838	30955690	211237839	87	12525											
BIRC6	0	.	GRCh38	chr2	32401162	32401162	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttctaaatctatgcaaaGgtctgaacacgaaagacatt	15	11	6	9	1	3	2	0	1	3	1	3	3	3	2	1	1	2	1	1	1	6	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1035-1G>T		p.X345_splice	ENST00000421745		154	99	55	141	141	0	strelka-varscan	BIRC6,splice_acceptor_variant,,ENST00000421745,NM_016252.3;BIRC6,splice_acceptor_variant,,ENST00000466527,;	T	ENST00000421745	Transcript	splice_acceptor_variant	-/15703	1035/14574	345/4857				1		1	BIRC6	HGNC	HGNC:13516	protein_coding	YES	CCDS33175.2	ENSP00000393596	Q9NR09		UPI000159689D	NM_016252.3				6/73																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	43	32401162	32401162	G	T	1	0	0	0	0	0	0	1	0	1589	1014	35	2		2	BIRC6	2	32401162	Splice_Site	SNP	G	C3N-00217_TP	1445472	32401162	209792367	88	12526											
LTBP1	0	.	GRCh38	chr2	33300507	33300507	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggcagtgcaaaaataccGagggctccttcaggtgcacc	11	6	12	12	2	1	0	1	0	0	0	2	1	2	0	3	3	3	4	3	3	3	2	rs148779103		C3N-00217_TP	C3N-00217_NB	G	G																c.3292G>T	p.Glu1098Ter	p.E1098*	ENST00000404816	21/34	217	152	65	180	180	0	strelka-varscan	LTBP1,stop_gained,p.Glu1098Ter,ENST00000404816,NM_206943.2;LTBP1,stop_gained,p.Glu772Ter,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,stop_gained,p.Glu719Ter,ENST00000404525,NM_001166265.1;LTBP1,stop_gained,p.Glu772Ter,ENST00000407925,NM_000627.3;LTBP1,stop_gained,p.Glu719Ter,ENST00000402934,;LTBP1,stop_gained,p.Glu65Ter,ENST00000415140,;LTBP1,upstream_gene_variant,,ENST00000422669,;LTBP1,non_coding_transcript_exon_variant,,ENST00000498013,;LTBP1,upstream_gene_variant,,ENST00000489740,;	T	ENST00000404816	Transcript	stop_gained	3645/6333	3292/5166	1098/1721	E/*	Gag/Tag	rs148779103	1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2			21/34		Gene3D:2.10.25.10,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF39,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	43	33300507	33300507	G	T	1	0	0	0	0	0	1	0	0	8979	1059	37	1		1	LTBP1	2	33300507	Nonsense_Mutation	SNP	G	C3N-00217_TP	899345	33300507	208893022	89	12527											
SLC8A1	0	.	GRCh38	chr2	40428637	40428637	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaatgctctcactcacAtgagtcacaggttcctcaaa	12	10	6	13	0	4	1	4	1	1	0	6	1	5	1	2	1	2	2	2	1	2	1	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1644T>A	p.His548Gln	p.H548Q	ENST00000403092	2/11	160	110	50	142	142	0	strelka-varscan	SLC8A1,missense_variant,p.His548Gln,ENST00000406785,;SLC8A1,missense_variant,p.His548Gln,ENST00000403092,;SLC8A1,missense_variant,p.His548Gln,ENST00000405901,NM_001112800.1;SLC8A1,missense_variant,p.His548Gln,ENST00000402441,NM_001112802.1;SLC8A1,missense_variant,p.His548Gln,ENST00000405269,;SLC8A1,missense_variant,p.His548Gln,ENST00000332839,NM_021097.2;SLC8A1,missense_variant,p.His548Gln,ENST00000408028,NM_001112801.1,NM_001252624.1;SLC8A1,missense_variant,p.His548Gln,ENST00000406391,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,missense_variant,p.His545Gln,ENST00000407929,;	T	ENST00000403092	Transcript	missense_variant	1678/3178	1644/2922	548/973	H/Q	caT/caA		1		-1	SLC8A1	HGNC	HGNC:11068	protein_coding	YES	CCDS1806.1	ENSP00000384763	P32418		UPI000012FC46		tolerated(0.46)		2/11		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,SMART_domains:SM00237,Superfamily_domains:SSF141072,TIGRFAM_domain:TIGR00845																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	40428637	40428637	A	T	1	0	0	0	0	1	0	0	0	14989	214	8	4		4	SLC8A1	2	40428637	Missense_Mutation	SNP	A	C3N-00217_TP	7128130	40428637	201764892	90	12528											
FSHR	0	.	GRCh38	chr2	48963178	48963178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtagatgtggatatagCagccacagatgaccacaaag	15	7	12	7	0	0	4	0	2	0	2	0	5	0	5	2	2	2	2	2	2	4	3	rs368367400		C3N-00217_TP	C3N-00217_NB	C	C																c.1643G>T	p.Cys548Phe	p.C548F	ENST00000406846	10/10	280	207	73	299	297	2	strelka-varscan	FSHR,missense_variant,p.Cys548Phe,ENST00000406846,NM_000145.3;FSHR,missense_variant,p.Cys522Phe,ENST00000304421,NM_181446.2;FSHR,downstream_gene_variant,,ENST00000454032,;RP11-460M2.1,intron_variant,,ENST00000634588,;	A	ENST00000406846	Transcript	missense_variant	1763/2784	1643/2088	548/695	C/F	tGc/tTc	rs368367400	1		-1	FSHR	HGNC	HGNC:3969	protein_coding	YES	CCDS1843.1	ENSP00000384708			UPI000013E97A	NM_000145.3	deleterious(0)		10/10		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF5,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	48963178	48963178	C	A	1	0	0	0	0	1	0	0	0	5947	710	25	2		2	FSHR	2	48963178	Missense_Mutation	SNP	C	C3N-00217_TP	8534541	48963178	193230351	91	12529											
NRXN1	0	.	GRCh38	chr2	50053571	50053571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatggttgcttggctattGaagattgtgagctgacgccc	8	14	12	7	1	0	4	0	3	0	1	0	4	0	4	1	2	2	4	1	2	3	6	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3948C>A	p.Phe1316Leu	p.F1316L	ENST00000404971	22/24	265	187	78	322	320	2	strelka-varscan	NRXN1,missense_variant,p.Phe1246Leu,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Phe1268Leu,ENST00000625672,;NRXN1,missense_variant,p.Phe1316Leu,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Phe1276Leu,ENST00000401669,;NRXN1,missense_variant,p.Phe1264Leu,ENST00000405472,;NRXN1,missense_variant,p.Phe1268Leu,ENST00000630543,;NRXN1,missense_variant,p.Phe211Leu,ENST00000342183,NM_138735.2;NRXN1,missense_variant,p.Phe241Leu,ENST00000401710,;NRXN1,missense_variant,p.Phe241Leu,ENST00000628364,;NRXN1,5_prime_UTR_variant,,ENST00000611589,;NRXN1,non_coding_transcript_exon_variant,,ENST00000637889,;NRXN1,non_coding_transcript_exon_variant,,ENST00000635264,;NRXN1,3_prime_UTR_variant,,ENST00000637906,;	T	ENST00000404971	Transcript	missense_variant	5288/7578	3948/4644	1316/1547	F/L	ttC/ttA		1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	deleterious(0)		22/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	50053571	50053571	G	T	1	0	0	0	0	1	0	0	0	10724	1281	45	2		2	NRXN1	2	50053571	Missense_Mutation	SNP	G	C3N-00217_TP	1090393	50053571	192139958	92	12530											
NRXN1	0	.	GRCh38	chr2	50236813	50236813	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttctaggtagtcaccCaagcctgaagaactgtccac	11	9	9	12	0	2	2	1	1	1	1	3	2	3	2	3	1	3	3	3	1	5	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.3642G>C	p.Leu1214Phe	p.L1214F	ENST00000404971	19/24	308	221	87	343	343	0	strelka-varscan	NRXN1,missense_variant,p.Leu1174Phe,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Leu1166Phe,ENST00000625672,;NRXN1,missense_variant,p.Leu1214Phe,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Leu1174Phe,ENST00000401669,;NRXN1,missense_variant,p.Leu1162Phe,ENST00000405472,;NRXN1,missense_variant,p.Leu1166Phe,ENST00000630543,;NRXN1,missense_variant,p.Leu139Phe,ENST00000342183,NM_138735.2;NRXN1,missense_variant,p.Leu139Phe,ENST00000401710,;NRXN1,missense_variant,p.Leu139Phe,ENST00000628364,;NRXN1,5_prime_UTR_variant,,ENST00000611589,;NRXN1,downstream_gene_variant,,ENST00000625320,;NRXN1,non_coding_transcript_exon_variant,,ENST00000636298,;NRXN1,non_coding_transcript_exon_variant,,ENST00000637889,;NRXN1,non_coding_transcript_exon_variant,,ENST00000635264,;NRXN1,non_coding_transcript_exon_variant,,ENST00000636736,;NRXN1,downstream_gene_variant,,ENST00000636818,;NRXN1,missense_variant,p.Leu892Phe,ENST00000331040,;NRXN1,missense_variant,p.Leu100Phe,ENST00000637906,;	G	ENST00000404971	Transcript	missense_variant	4982/7578	3642/4644	1214/1547	L/F	ttG/ttC		1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	deleterious(0)		19/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	50236813	50236813	C	G	1	0	0	0	0	1	0	0	0	10724	593	21	4		4	NRXN1	2	50236813	Missense_Mutation	SNP	C	C3N-00217_TP	183242	50236813	191956716	93	12531											
DYSF	0	.	GRCh38	chr2	71564200	71564200	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattgtgggaagctacagaCaatctttctgaaagtgagtt	13	12	11	5	0	2	3	0	2	2	1	2	5	2	4	0	1	2	2	0	1	5	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2552C>A	p.Thr851Lys	p.T851K	ENST00000410020	24/56	423	369	54	407	407	0	strelka-varscan	DYSF,missense_variant,p.Thr833Lys,ENST00000258104,NM_003494.3,NM_001130976.1;DYSF,missense_variant,p.Thr850Lys,ENST00000409582,NM_001130981.1,NM_001130977.1;DYSF,missense_variant,p.Thr864Lys,ENST00000413539,NM_001130979.1;DYSF,missense_variant,p.Thr833Lys,ENST00000429174,NM_001130978.1;DYSF,missense_variant,p.Thr850Lys,ENST00000409762,NM_001130980.1;DYSF,missense_variant,p.Thr851Lys,ENST00000410020,NM_001130987.1;DYSF,missense_variant,p.Thr865Lys,ENST00000409651,NM_001130982.1;DYSF,missense_variant,p.Thr834Lys,ENST00000409366,NM_001130983.1;DYSF,missense_variant,p.Thr851Lys,ENST00000410041,NM_001130985.1;DYSF,missense_variant,p.Thr820Lys,ENST00000409744,NM_001130984.1,NM_001130986.1;DYSF,missense_variant,p.Thr834Lys,ENST00000394120,NM_001130455.1;	A	ENST00000410020	Transcript	missense_variant	2693/6657	2552/6360	851/2119	T/K	aCa/aAa		1		1	DYSF	HGNC	HGNC:3097	protein_coding	YES	CCDS46328.1	ENSP00000386881	O75923		UPI000171F710	NM_001130987.1	deleterious(0)		24/56		Pfam_domain:PF08150,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF33,SMART_domains:SM01201																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	71564200	71564200	C	A	1	0	0	0	0	1	0	0	0	4683	478	17	2		2	DYSF	2	71564200	Missense_Mutation	SNP	C	C3N-00217_TP	21327387	71564200	170629329	94	12532											
DQX1	0	.	GRCh38	chr2	74519695	74519695	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtttatgggcttggcacAatgctgcccaattcagacct	10	11	10	10	0	1	1	1	0	0	1	1	2	1	1	2	2	2	4	2	2	4	4	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1667T>A	p.Leu556Ter	p.L556*	ENST00000404568	10/12	234	158	76	186	185	1	strelka-varscan	DQX1,stop_gained,p.Leu556Ter,ENST00000404568,NM_133637.2;DQX1,stop_gained,p.Leu556Ter,ENST00000393951,;TLX2,downstream_gene_variant,,ENST00000233638,NM_016170.4;TLX2,downstream_gene_variant,,ENST00000621092,;DQX1,downstream_gene_variant,,ENST00000451518,;TLX2,downstream_gene_variant,,ENST00000497238,;DQX1,downstream_gene_variant,,ENST00000495597,;DQX1,downstream_gene_variant,,ENST00000498552,;DQX1,3_prime_UTR_variant,,ENST00000418139,;DQX1,non_coding_transcript_exon_variant,,ENST00000473508,;DQX1,non_coding_transcript_exon_variant,,ENST00000483555,;	T	ENST00000404568	Transcript	stop_gained	1887/2689	1667/2154	556/717	L/*	tTg/tAg		1		-1	DQX1	HGNC	HGNC:20410	protein_coding	YES	CCDS1949.2	ENSP00000384621	Q8TE96		UPI0000208758	NM_133637.2			10/12		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF108																	HIGH		SNV	5			1										PASS		.	.												T	4	4	43	74519695	74519695	A	T	1	0	0	0	0	0	1	0	0	4566	131	5	4		4	DQX1	2	74519695	Nonsense_Mutation	SNP	A	C3N-00217_TP	2955495	74519695	167673834	95	12533											
DNAH6	0	.	GRCh38	chr2	84816057	84816057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccactttataaaacaggagCccgggcaggaacactctcaa	14	6	8	13	1	1	0	1	0	1	0	2	2	1	2	2	3	3	1	2	3	5	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.12347C>T	p.Ala4116Val	p.A4116V	ENST00000389394	76/77	166	112	54	150	150	0	strelka-varscan	DNAH6,missense_variant,p.Ala4116Val,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Ala4116Val,ENST00000237449,;	T	ENST00000389394	Transcript	missense_variant	12484/12795	12347/12477	4116/4158	A/V	gCc/gTc		1		1	DNAH6	HGNC	HGNC:2951	protein_coding	YES	CCDS46348.1	ENSP00000374045	Q9C0G6		UPI000163AC9D	NM_001370.1	tolerated(0.74)		76/77		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136,Pfam_domain:PF03028																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	84816057	84816057	C	T	1	0	0	0	0	1	0	0	0	4420	739	26	3		3	DNAH6	2	84816057	Missense_Mutation	SNP	C	C3N-00217_TP	10296362	84816057	157377472	96	12534											
KCNIP3	0	.	GRCh38	chr2	95382453	95382453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgcgggaggacgcgcCggcggagcacgtggagaggt	7	4	19	11	6	0	1	0	0	0	1	1	5	1	4	2	6	2	1	2	6	0	0			C3N-00217_TP	C3N-00217_NB	C	C																c.632C>A	p.Pro211Gln	p.P211Q	ENST00000295225	7/9	91	74	17	55	54	1	strelka-varscan	KCNIP3,missense_variant,p.Pro211Gln,ENST00000295225,NM_013434.4;KCNIP3,missense_variant,p.Pro211Gln,ENST00000360990,;KCNIP3,missense_variant,p.Pro185Gln,ENST00000468529,NM_001034914.1;KCNIP3,non_coding_transcript_exon_variant,,ENST00000377181,;	A	ENST00000295225	Transcript	missense_variant	767/2940	632/771	211/256	P/Q	cCg/cAg	COSM4999375,COSM4999376,COSM4999377	1		1	KCNIP3	HGNC	HGNC:15523	protein_coding	YES	CCDS2013.1	ENSP00000295225	Q9Y2W7	A0A024RE22	UPI0000000CCD	NM_013434.4	deleterious(0.01)		7/9		PROSITE_profiles:PS50222,hmmpanther:PTHR23055,hmmpanther:PTHR23055:SF61,Gene3D:1.10.238.10,Pfam_domain:PF13499,Superfamily_domains:SSF47473											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	43	95382453	95382453	C	A	1	0	0	0	0	1	0	0	0	7957	652	23	1		1	KCNIP3	2	95382453	Missense_Mutation	SNP	C	C3N-00217_TP	10566396	95382453	146811076	97	12535											
FER1L5	0	.	GRCh38	chr2	96642869	96642869	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgcagtcggccaagatTgacccaccactagccccact	9	7	10	15	1	0	2	0	1	0	1	1	2	0	2	5	2	2	1	5	2	2	2	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.33T>A	p.=	p.I11I	ENST00000624922	1/53	174	121	53	125	125	0	strelka-varscan	FER1L5,synonymous_variant,p.=,ENST00000623019,;FER1L5,synonymous_variant,p.=,ENST00000624922,NM_001293083.1;FER1L5,synonymous_variant,p.=,ENST00000622983,;FER1L5,5_prime_UTR_variant,,ENST00000623246,;KANSL3,upstream_gene_variant,,ENST00000431828,NM_001115016.2;KANSL3,upstream_gene_variant,,ENST00000448075,;FER1L5,non_coding_transcript_exon_variant,,ENST00000436930,;KANSL3,upstream_gene_variant,,ENST00000487070,;KANSL3,upstream_gene_variant,,ENST00000475820,;FER1L5,non_coding_transcript_exon_variant,,ENST00000505256,;KANSL3,upstream_gene_variant,,ENST00000354204,;KANSL3,upstream_gene_variant,,ENST00000420155,;KANSL3,upstream_gene_variant,,ENST00000597150,;KANSL3,upstream_gene_variant,,ENST00000444759,;KANSL3,upstream_gene_variant,,ENST00000452268,;KANSL3,upstream_gene_variant,,ENST00000418735,;KANSL3,upstream_gene_variant,,ENST00000416138,;KANSL3,upstream_gene_variant,,ENST00000478492,;	A	ENST00000624922	Transcript	synonymous_variant	33/6367	33/6174	11/2057	I	atT/atA		1		1	FER1L5	HGNC	HGNC:19044	protein_coding	YES	CCDS77438.1	ENSP00000485238		A0A096LNV2	UPI00046B3755	NM_001293083.1			1/53		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,SMART_domains:SM00239,Superfamily_domains:SSF49562																	LOW		SNV	5			1										PASS		.	.												A	2	1	43	96642869	96642869	T	A	1	0	0	0	0	0	0	0	1	5677	1800	63	4		4	FER1L5	2	96642869	Silent	SNP	T	C3N-00217_TP	1260416	96642869	145550660	98	12536											
ST6GAL2	0	.	GRCh38	chr2	106843527	106843527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctggctccccgggggaagGgaatcccaatgtcccctgag	7	6	14	14	1	0	1	0	1	0	0	3	3	3	3	6	4	0	1	6	4	3	0	rs201546993		C3N-00217_TP	C3N-00217_NB	G	G																c.451C>A	p.Pro151Thr	p.P151T	ENST00000409382	2/6	135	92	43	122	122	0	strelka-varscan	ST6GAL2,missense_variant,p.Pro151Thr,ENST00000409382,NM_001142351.1;ST6GAL2,missense_variant,p.Pro151Thr,ENST00000361686,NM_001322362.1,NM_032528.2;ST6GAL2,missense_variant,p.Pro151Thr,ENST00000409087,NM_001142352.1;ST6GAL2,downstream_gene_variant,,ENST00000419159,;AC016994.2,downstream_gene_variant,,ENST00000425419,;	T	ENST00000409382	Transcript	missense_variant	1062/7275	451/1590	151/529	P/T	Cct/Act	rs201546993,COSM3564868,COSM3564869	1		-1	ST6GAL2	HGNC	HGNC:10861	protein_coding	YES	CCDS2073.1	ENSP00000386942	Q96JF0		UPI000007477B	NM_001142351.1			2/6		hmmpanther:PTHR13713:SF61,hmmpanther:PTHR13713											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		.	.												T	3	4	43	106843527	106843527	G	T	1	0	0	0	0	1	0	0	0	15600	1232	43	2		2	ST6GAL2	2	106843527	Missense_Mutation	SNP	G	C3N-00217_TP	10200658	106843527	135350002	99	12537											
IL1A	0	.	GRCh38	chr2	112778033	112778033	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcagtcacatacaatTgagtttttgagattcttaga	11	15	9	6	0	2	3	1	2	1	2	2	4	2	3	0	1	1	2	0	1	3	7	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.569A>T	p.Gln190Leu	p.Q190L	ENST00000263339	6/7	158	107	51	191	191	0	strelka-varscan	IL1A,missense_variant,p.Gln190Leu,ENST00000263339,NM_000575.3;	A	ENST00000263339	Transcript	missense_variant	725/2124	569/816	190/271	Q/L	cAa/cTa		1		-1	IL1A	HGNC	HGNC:5991	protein_coding	YES	CCDS2101.1	ENSP00000263339	P01583		UPI0000000CCF	NM_000575.3	tolerated(0.16)		6/7		hmmpanther:PTHR10078:SF26,hmmpanther:PTHR10078,Gene3D:2.80.10.50,Pfam_domain:PF00340,SMART_domains:SM00125,Superfamily_domains:SSF50353,Prints_domain:PR01357,Prints_domain:PR00264																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	112778033	112778033	T	A	1	0	0	0	0	1	0	0	0	7558	1812	63	4		4	IL1A	2	112778033	Missense_Mutation	SNP	T	C3N-00217_TP	5934506	112778033	129415496	100	12538											
EN1	0	.	GRCh38	chr2	118847140	118847140	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagggccgagtcgcgctgacTtttaggttccggctgctgtt	4	12	15	10	4	0	1	0	1	0	0	2	3	1	1	2	3	1	5	2	3	1	4	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.28A>C	p.Ser10Arg	p.S10R	ENST00000295206	1/2	213	185	28	158	158	0	strelka-varscan	EN1,missense_variant,p.Ser10Arg,ENST00000295206,NM_001426.3;EN1,upstream_gene_variant,,ENST00000546667,;	G	ENST00000295206	Transcript	missense_variant	539/2457	28/1179	10/392	S/R	Agt/Cgt		1		-1	EN1	HGNC	HGNC:3342	protein_coding	YES	CCDS2123.1	ENSP00000295206	Q05925		UPI000013E21D	NM_001426.3	deleterious_low_confidence(0)		1/2																			MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	43	118847140	118847140	T	G	1	0	0	0	0	1	0	0	0	4951	1609	56	5		5	EN1	2	118847140	Missense_Mutation	SNP	T	C3N-00217_TP	6069107	118847140	123346389	101	12539											
TMEM185B	0	.	GRCh38	chr2	120222799	120222799	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaaacgcccgcgcccaCggaggcgcctgcgacgacta	8	2	13	18	7	0	0	0	0	0	0	0	3	0	1	4	3	2	0	4	3	2	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.178G>T	p.Val60Leu	p.V60L	ENST00000426077	1/1	87	58	29	58	58	0	strelka-varscan	TMEM185B,missense_variant,p.Val60Leu,ENST00000426077,NM_024121.2;	A	ENST00000426077	Transcript	missense_variant	610/2131	178/1053	60/350	V/L	Gtg/Ttg		1		-1	TMEM185B	HGNC	HGNC:18896	protein_coding	YES	CCDS58722.1	ENSP00000453399	Q9H7F4		UPI0000074167	NM_024121.2	deleterious(0.03)		1/1		Pfam_domain:PF10269,hmmpanther:PTHR13568,hmmpanther:PTHR13568:SF5,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	43	120222799	120222799	C	A	1	0	0	0	0	1	0	0	0	16551	536	19	1		1	TMEM185B	2	120222799	Missense_Mutation	SNP	C	C3N-00217_TP	1375659	120222799	121970730	102	12540											
RALB	0	.	GRCh38	chr2	120285937	120285937	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agaaagtggttcttgatgggGaagaagttcagatagatatt	14	12	13	2	0	2	5	1	1	1	4	2	6	2	6	0	3	0	2	0	3	5	6			C3N-00217_TP	C3N-00217_NB	G	G																c.178G>C	p.Glu60Gln	p.E60Q	ENST00000272519	3/5	311	226	85	257	257	0	strelka-varscan	RALB,missense_variant,p.Glu60Gln,ENST00000272519,NM_002881.2;RALB,missense_variant,p.Glu60Gln,ENST00000420510,;RALB,missense_variant,p.Glu60Gln,ENST00000412383,;RALB,missense_variant,p.Glu60Gln,ENST00000449649,;RALB,missense_variant,p.Glu82Gln,ENST00000447591,;AC012363.1,downstream_gene_variant,,ENST00000631153,;RALB,intron_variant,,ENST00000470417,;RALB,3_prime_UTR_variant,,ENST00000431732,;	C	ENST00000272519	Transcript	missense_variant	448/2344	178/621	60/206	E/Q	Gaa/Caa	COSM1527636,COSM5270391	1		1	RALB	HGNC	HGNC:9840	protein_coding	YES	CCDS2131.1	ENSP00000272519	P11234	A0A024RAG3	UPI000000124F	NM_002881.2	tolerated(0.1)		3/5		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF199,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	43	120285937	120285937	G	C	1	0	0	0	0	1	0	0	0	13170	1175	41	4		4	RALB	2	120285937	Missense_Mutation	SNP	G	C3N-00217_TP	63138	120285937	121907592	103	12541											
CNTNAP5	0	.	GRCh38	chr2	124504536	124504536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcagaaaatgacagaacGcgtagctgaaatcctcacag	16	7	9	9	2	2	4	2	2	0	2	3	5	3	4	1	0	2	2	1	0	5	2			C3N-00217_TP	C3N-00217_NB	G	G																c.1304G>A	p.Arg435His	p.R435H	ENST00000431078	8/24	151	131	20	135	135	0	strelka-varscan	CNTNAP5,missense_variant,p.Arg435His,ENST00000431078,NM_130773.3;	A	ENST00000431078	Transcript	missense_variant	1668/5284	1304/3921	435/1306	R/H	cGc/cAc	COSM441066	1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3	tolerated(0.22)		8/24		PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF665,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	43	124504536	124504536	G	A	1	0	0	0	0	1	0	0	0	3432	1087	38	1		1	CNTNAP5	2	124504536	Missense_Mutation	SNP	G	C3N-00217_TP	4218599	124504536	117688993	104	12542											
MYO7B	0	.	GRCh38	chr2	127622014	127622014	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcggccaagggccggcGacctacggccccttctgtgc	5	8	12	16	4	2	0	1	0	1	0	3	1	2	0	5	4	2	0	5	4	2	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3480G>T	p.=	p.A1160A	ENST00000428314	27/47	299	210	89	276	275	1	strelka-varscan	MYO7B,synonymous_variant,p.=,ENST00000428314,NM_001080527.1;MYO7B,synonymous_variant,p.=,ENST00000409816,;MYO7B,synonymous_variant,p.=,ENST00000409090,;MYO7B,synonymous_variant,p.=,ENST00000437387,;RP11-286H15.1,downstream_gene_variant,,ENST00000609697,;MYO7B,non_coding_transcript_exon_variant,,ENST00000496841,;MYO7B,non_coding_transcript_exon_variant,,ENST00000491278,;	T	ENST00000428314	Transcript	synonymous_variant	3533/6715	3480/6351	1160/2116	A	gcG/gcT		1		1	MYO7B	HGNC	HGNC:7607	protein_coding	YES	CCDS46405.1	ENSP00000415090	Q6PIF6		UPI00006C04F0	NM_001080527.1			27/47		Pfam_domain:PF00784,PROSITE_profiles:PS51016,SMART_domains:SM00139																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	43	127622014	127622014	G	T	1	0	0	0	0	0	0	0	1	10084	1045	37	1		1	MYO7B	2	127622014	Silent	SNP	G	C3N-00217_TP	3117478	127622014	114571515	105	12543											
ARHGEF4	0	.	GRCh38	chr2	131045441	131045441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagcaggtcacagggaagcCcaaaggtaggcggacagcag	13	2	16	10	1	1	0	1	0	0	0	1	2	1	2	1	5	3	4	1	5	3	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1916C>A	p.Pro639His	p.P639H	ENST00000326016	13/14	194	142	52	194	194	0	strelka-varscan	ARHGEF4,missense_variant,p.Pro1765His,ENST00000409359,;ARHGEF4,missense_variant,p.Pro639His,ENST00000525839,NM_032995.2;ARHGEF4,missense_variant,p.Pro664His,ENST00000392953,;ARHGEF4,missense_variant,p.Pro639His,ENST00000326016,NM_015320.3;ARHGEF4,missense_variant,p.Pro579His,ENST00000611048,;ARHGEF4,missense_variant,p.Pro516His,ENST00000409303,;ARHGEF4,missense_variant,p.Pro568His,ENST00000355771,;ARHGEF4,missense_variant,p.Pro256His,ENST00000532720,;ARHGEF4,intron_variant,,ENST00000428230,;ARHGEF4,intron_variant,,ENST00000438985,;FAM168B,downstream_gene_variant,,ENST00000409185,NM_001321746.1,NM_001321744.1,NM_001321747.1,NM_001321745.1,NM_001321748.1,NM_001009993.2;ARHGEF4,downstream_gene_variant,,ENST00000439368,;ARHGEF4,3_prime_UTR_variant,,ENST00000636987,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000490728,;ARHGEF4,downstream_gene_variant,,ENST00000525092,;ARHGEF4,downstream_gene_variant,,ENST00000527365,;	A	ENST00000326016	Transcript	missense_variant	2435/3666	1916/2073	639/690	P/H	cCc/cAc		1		1	ARHGEF4	HGNC	HGNC:684	protein_coding	YES	CCDS2165.1	ENSP00000316845	Q9NR80		UPI00001417F6	NM_015320.3	deleterious(0.01)		13/14		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF103																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	43	131045441	131045441	C	A	1	0	0	0	0	1	0	0	0	1043	637	22	2		2	ARHGEF4	2	131045441	Missense_Mutation	SNP	C	C3N-00217_TP	3423427	131045441	111148088	106	12544											
CCDC74A	0	.	GRCh38	chr2	131530704	131530704	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaaggagggctcctcaCggacacacaggccaggaggc	10	3	16	12	1	1	1	1	1	0	0	2	4	2	4	2	7	0	2	2	7	1	0	rs149664658		C3N-00217_TP	C3N-00217_NB	C	C																c.421C>A	p.=	p.R141R	ENST00000295171	3/8	310	271	39	272	272	0	strelka-varscan	CCDC74A,synonymous_variant,p.=,ENST00000295171,NM_138770.2,NM_001258304.1;CCDC74A,synonymous_variant,p.=,ENST00000467992,NM_001258305.1;CCDC74A,intron_variant,,ENST00000409856,NM_001258306.1;CCDC74A,intron_variant,,ENST00000434330,;CCDC74A,downstream_gene_variant,,ENST00000478665,;CCDC74A,3_prime_UTR_variant,,ENST00000454549,;CCDC74A,downstream_gene_variant,,ENST00000465939,;CCDC74A,downstream_gene_variant,,ENST00000468650,;MED15P4,downstream_gene_variant,,ENST00000417579,;	A	ENST00000295171	Transcript	synonymous_variant	559/1543	421/1137	141/378	R	Cgg/Agg	rs149664658	1		1	CCDC74A	HGNC	HGNC:25197	protein_coding	YES	CCDS2167.1	ENSP00000295171	Q96AQ1		UPI000006E43A	NM_138770.2,NM_001258304.1			3/8		hmmpanther:PTHR14882,hmmpanther:PTHR14882:SF5																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	43	131530704	131530704	C	A	1	0	0	0	0	0	0	0	1	2547	527	19	1		1	CCDC74A	2	131530704	Silent	SNP	C	C3N-00217_TP	485263	131530704	110662825	107	12545											
LRP1B	0	.	GRCh38	chr2	141062251	141062251	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactttggcgacattccCgtagtcagtaaagaaaagtt	12	11	8	10	2	1	1	1	0	0	1	3	2	3	1	2	1	0	3	2	1	5	5	rs763797972		C3N-00217_TP	C3N-00217_NB	C	C																c.1036G>T	p.Gly346Trp	p.G346W	ENST00000389484	8/91	99	71	28	115	115	0	strelka-varscan	LRP1B,missense_variant,p.Gly346Trp,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	A	ENST00000389484	Transcript	missense_variant	2008/16535	1036/13800	346/4599	G/W	Ggg/Tgg	rs763797972	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0)		8/91		PROSITE_profiles:PS51120,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	141062251	141062251	C	A	1	0	0	0	0	1	0	0	0	8850	652	23	1		1	LRP1B	2	141062251	Missense_Mutation	SNP	C	C3N-00217_TP	9531547	141062251	101131278	108	12546											
GRB14	0	.	GRCh38	chr2	164493054	164493054	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctagagagcaatcctagcAcaataatgtttcaacttgca	14	11	7	9	0	2	1	1	0	1	1	3	2	3	1	1	0	4	4	1	0	6	5	rs112309467		C3N-00217_TP	C3N-00217_NB	A	A																c.1605T>G	p.Cys535Trp	p.C535W	ENST00000263915	14/14	142	121	21	159	159	0	strelka-varscan	GRB14,missense_variant,p.Cys535Trp,ENST00000263915,NM_004490.2;GRB14,downstream_gene_variant,,ENST00000446413,;GRB14,non_coding_transcript_exon_variant,,ENST00000497306,;GRB14,non_coding_transcript_exon_variant,,ENST00000488342,;	C	ENST00000263915	Transcript	missense_variant	2144/2382	1605/1623	535/540	C/W	tgT/tgG	rs112309467	1		-1	GRB14	HGNC	HGNC:4565	protein_coding	YES	CCDS2222.1	ENSP00000263915	Q14449		UPI000013D489	NM_004490.2	deleterious(0)		14/14		PROSITE_profiles:PS50001,hmmpanther:PTHR11243:SF22,hmmpanther:PTHR11243,Gene3D:3.30.505.10,Superfamily_domains:SSF55550																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	164493054	164493054	A	C	1	0	0	0	0	1	0	0	0	6636	157	6	5		5	GRB14	2	164493054	Missense_Mutation	SNP	A	C3N-00217_TP	23430803	164493054	77700475	109	12547											
XIRP2	0	.	GRCh38	chr2	167210883	167210883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaggggtgactgccgcagCttctctgctaatgtaagctg	7	11	12	11	1	1	1	0	1	1	0	3	1	2	1	2	2	4	5	2	2	2	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.711C>A	p.Ser237Arg	p.S237R	ENST00000409195	4/11	117	75	42	125	125	0	strelka-varscan	XIRP2,missense_variant,p.Ser237Arg,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Ser15Arg,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Ser62Arg,ENST00000628543,;XIRP2,missense_variant,p.Ser270Arg,ENST00000409728,NM_001199143.1;XIRP2,missense_variant,p.Ser237Arg,ENST00000409043,NM_001079810.3;XIRP2,missense_variant,p.Ser15Arg,ENST00000409605,NM_001199145.1;	A	ENST00000409195	Transcript	missense_variant	800/12675	711/10650	237/3549	S/R	agC/agA		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious(0.01)		4/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	43	167210883	167210883	C	A	1	0	0	0	0	1	0	0	0	17989	796	28	2		2	XIRP2	2	167210883	Missense_Mutation	SNP	C	C3N-00217_TP	2717829	167210883	74982646	110	12548											
XIRP2	0	.	GRCh38	chr2	167243548	167243548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttcatttactgcagcttaGgtctgagctcaaagaaatta	12	13	9	7	0	3	2	2	1	1	1	3	2	3	2	0	2	4	4	0	2	5	5	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.2156G>T	p.Arg719Met	p.R719M	ENST00000409195	9/11	185	140	45	254	254	0	strelka-varscan	XIRP2,missense_variant,p.Arg719Met,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Arg497Met,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Arg544Met,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	T	ENST00000409195	Transcript	missense_variant	2245/12675	2156/10650	719/3549	R/M	aGg/aTg		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious(0)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	167243548	167243548	G	T	1	0	0	0	0	1	0	0	0	17989	1000	35	2		2	XIRP2	2	167243548	Missense_Mutation	SNP	G	C3N-00217_TP	32665	167243548	74949981	111	12549											
XIRP2	0	.	GRCh38	chr2	167248217	167248217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtccttgaatccaatcaaCtttaaccctgagaataatgt	14	12	6	9	0	1	2	1	2	0	1	3	3	3	2	3	1	2	0	3	1	6	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.6825C>A	p.Asn2275Lys	p.N2275K	ENST00000409195	9/11	199	149	50	255	255	0	strelka-varscan	XIRP2,missense_variant,p.Asn2275Lys,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Asn2053Lys,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Asn2100Lys,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	A	ENST00000409195	Transcript	missense_variant	6914/12675	6825/10650	2275/3549	N/K	aaC/aaA		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	tolerated_low_confidence(0.26)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	43	167248217	167248217	C	A	1	0	0	0	0	1	0	0	0	17989	564	20	2		2	XIRP2	2	167248217	Missense_Mutation	SNP	C	C3N-00217_TP	4669	167248217	74945312	112	12550											
MYO3B	0	.	GRCh38	chr2	170466518	170466518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggtagtattctctgatgGacctgctctccaaaatggtg	8	13	10	10	0	2	1	0	1	2	0	4	2	2	2	3	3	1	3	3	3	4	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.2821G>T	p.Asp941Tyr	p.D941Y	ENST00000408978	25/35	167	117	50	153	153	0	strelka-varscan	MYO3B,missense_variant,p.Asp941Tyr,ENST00000408978,NM_138995.4;MYO3B,missense_variant,p.Asp941Tyr,ENST00000409044,NM_001083615.3;MYO3B,missense_variant,p.Asp950Tyr,ENST00000484338,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,intron_variant,,ENST00000602629,;MYO3B,missense_variant,p.Asp941Tyr,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	T	ENST00000408978	Transcript	missense_variant	2964/5529	2821/4026	941/1341	D/Y	Gac/Tac		1		1	MYO3B	HGNC	HGNC:15576	protein_coding	YES	CCDS42773.1	ENSP00000386213	Q8WXR4		UPI000020907B	NM_138995.4	deleterious(0)		25/35		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF476,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	170466518	170466518	G	T	1	0	0	0	0	1	0	0	0	10078	1174	41	2		2	MYO3B	2	170466518	Missense_Mutation	SNP	G	C3N-00217_TP	3218301	170466518	71727011	113	12551											
RBM45	0	.	GRCh38	chr2	178126108	178126108	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggaaagattctgaatgggGtgagacttaaagttatgctg	13	12	13	3	0	1	3	0	2	1	2	1	5	1	4	0	3	1	2	0	3	5	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1357G>T	p.Val453Leu	p.V453L	ENST00000286070	9/10	128	103	25	189	189	0	strelka-varscan	RBM45,missense_variant,p.Val114Leu,ENST00000455903,;RBM45,missense_variant,p.Val455Leu,ENST00000616198,;RBM45,missense_variant,p.Val453Leu,ENST00000286070,NM_152945.2;RBM45,missense_variant,p.Val52Leu,ENST00000424099,;RBM45,upstream_gene_variant,,ENST00000464647,;RBM45,non_coding_transcript_exon_variant,,ENST00000424000,;RBM45,downstream_gene_variant,,ENST00000493048,;	T	ENST00000286070	Transcript	missense_variant	1449/1785	1357/1425	453/474	V/L	Gtg/Ttg		1		1	RBM45	HGNC	HGNC:24468	protein_coding	YES	CCDS33335.1	ENSP00000286070	Q8IUH3		UPI00001AEAD8	NM_152945.2	deleterious(0.02)		9/10		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF389,hmmpanther:PTHR24012,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	178126108	178126108	G	T	1	0	0	0	0	1	0	0	0	13305	1261	44	2		2	RBM45	2	178126108	Missense_Mutation	SNP	G	C3N-00217_TP	7659590	178126108	64067421	114	12552											
ITGA4	0	.	GRCh38	chr2	181493415	181493415	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatctcgtcaaccttctCacaggtaaggtactattcta	10	13	8	10	1	4	0	2	0	3	0	6	1	4	1	1	3	2	2	1	3	5	6	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1244C>A	p.Ser415Ter	p.S415*	ENST00000397033	11/28	107	82	25	113	113	0	strelka-varscan	ITGA4,stop_gained,p.Ser415Ter,ENST00000397033,NM_000885.4;ITGA4,stop_gained,p.Ser415Ter,ENST00000233573,;ITGA4,non_coding_transcript_exon_variant,,ENST00000473002,;ITGA4,upstream_gene_variant,,ENST00000490435,;	A	ENST00000397033	Transcript	stop_gained	1674/4189	1244/3099	415/1032	S/*	tCa/tAa		1		1	ITGA4	HGNC	HGNC:6140	protein_coding	YES	CCDS42788.1	ENSP00000380227	P13612		UPI000052D444	NM_000885.4			11/28		hmmpanther:PTHR23220:SF78,hmmpanther:PTHR23220,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	43	181493415	181493415	C	A	1	0	0	0	0	0	1	0	0	7785	840	29	2		2	ITGA4	2	181493415	Nonsense_Mutation	SNP	C	C3N-00217_TP	3367307	181493415	60700114	115	12553											
NEUROD1	0	.	GRCh38	chr2	181678465	181678465	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggacagcttctgcgtcttAgaatagcaaggcaccacctt	10	11	9	11	1	2	1	0	0	2	1	2	2	2	2	2	2	3	3	2	2	4	5	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.396T>C	p.=	p.S132S	ENST00000295108	2/2	358	281	77	309	309	0	strelka-varscan	NEUROD1,synonymous_variant,p.=,ENST00000295108,NM_002500.4;AC013733.3,upstream_gene_variant,,ENST00000440371,;CERKL,intron_variant,,ENST00000479558,;CERKL,intron_variant,,ENST00000497337,;NEUROD1,intron_variant,,ENST00000496876,;	G	ENST00000295108	Transcript	synonymous_variant	854/2852	396/1071	132/356	S	tcT/tcC		1		-1	NEUROD1	HGNC	HGNC:7762	protein_coding	YES	CCDS2283.1	ENSP00000295108	Q13562	A0A0S2Z493	UPI000013E207	NM_002500.4			2/2		Gene3D:4.10.280.10,Pfam_domain:PF00010,PIRSF_domain:PIRSF015618,PROSITE_profiles:PS50888,hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF88,SMART_domains:SM00353,Superfamily_domains:SSF47459																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	43	181678465	181678465	A	G	1	0	0	0	0	0	0	0	1	10385	407	15	5		5	NEUROD1	2	181678465	Silent	SNP	A	C3N-00217_TP	185050	181678465	60515064	116	12554											
FSIP2	0	.	GRCh38	chr2	185801190	185801190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagccattcataataagctaCatcaggaaggtatatatgct	15	12	7	7	0	2	0	2	0	0	0	2	1	2	1	1	2	4	3	1	2	8	8	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.12151C>A	p.His4051Asn	p.H4051N	ENST00000343098	17/23	125	91	34	224	224	0	strelka-varscan	FSIP2,missense_variant,p.His4051Asn,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.His3962Asn,ENST00000424728,;FSIP2,upstream_gene_variant,,ENST00000611759,;FSIP2-AS1,upstream_gene_variant,,ENST00000436557,;FSIP2-AS1,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;	A	ENST00000343098	Transcript	missense_variant	12151/21054	12151/20991	4051/6996	H/N	Cat/Aat		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	tolerated(0.08)		17/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	43	185801190	185801190	C	A	1	0	0	0	0	1	0	0	0	5949	478	17	2		2	FSIP2	2	185801190	Missense_Mutation	SNP	C	C3N-00217_TP	4122725	185801190	56392339	117	12555											
FSIP2	0	.	GRCh38	chr2	185803487	185803487	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgacacaaagacattggcTgcaagaataactaatatcat	19	9	6	7	0	1	3	1	1	0	2	1	3	1	3	0	1	2	2	0	1	7	4	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.14448T>A	p.=	p.A4816A	ENST00000343098	17/23	62	45	17	92	92	0	strelka-varscan	FSIP2,synonymous_variant,p.=,ENST00000343098,NM_173651.2;FSIP2,synonymous_variant,p.=,ENST00000424728,;FSIP2,upstream_gene_variant,,ENST00000611759,;FSIP2-AS1,upstream_gene_variant,,ENST00000436557,;FSIP2-AS1,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;	A	ENST00000343098	Transcript	synonymous_variant	14448/21054	14448/20991	4816/6996	A	gcT/gcA		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2			17/23		Pfam_domain:PF15783,hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	LOW		SNV	5			1										PASS		.	.												A	2	1	43	185803487	185803487	T	A	1	0	0	0	0	0	0	0	1	5949	1567	55	4		4	FSIP2	2	185803487	Silent	SNP	T	C3N-00217_TP	2297	185803487	56390042	118	12556											
DNAH7	0	.	GRCh38	chr2	195888263	195888263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcatttcccttacctttgTatgctttctaataaattcaa	10	19	2	10	0	3	0	2	0	2	0	5	0	4	0	2	0	2	2	2	0	6	8			C3N-00217_TP	C3N-00217_NB	T	T																c.5401A>G	p.Thr1801Ala	p.T1801A	ENST00000312428	33/65	113	79	34	144	144	0	strelka-varscan	DNAH7,missense_variant,p.Thr1801Ala,ENST00000312428,NM_018897.2;DNAH7,downstream_gene_variant,,ENST00000475293,;	C	ENST00000312428	Transcript	missense_variant	5502/12394	5401/12075	1801/4024	T/A	Aca/Gca	COSM2904917	1		-1	DNAH7	HGNC	HGNC:18661	protein_coding	YES	CCDS42794.1	ENSP00000311273	Q8WXX0		UPI0000141B95	NM_018897.2	tolerated(0.1)		33/65		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	43	195888263	195888263	T	C	1	0	0	0	0	1	0	0	0	4421	1652	57	5		5	DNAH7	2	195888263	Missense_Mutation	SNP	T	C3N-00217_TP	10084776	195888263	46305266	119	12557											
NRP2	0	.	GRCh38	chr2	205792244	205792244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatattatagtggacatccCagaaatacatgagagagaag	17	10	9	5	0	0	3	0	1	0	3	1	6	1	4	1	1	1	0	1	1	7	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2450C>T	p.Pro817Leu	p.P817L	ENST00000360409	16/17	170	130	40	219	219	0	strelka-varscan	NRP2,missense_variant,p.Pro817Leu,ENST00000360409,NM_201266.1;NRP2,missense_variant,p.Pro812Leu,ENST00000357785,NM_003872.2;NRP2,intron_variant,,ENST00000412873,NM_201279.1;NRP2,non_coding_transcript_exon_variant,,ENST00000467850,;	T	ENST00000360409	Transcript	missense_variant	3241/6662	2450/2796	817/931	P/L	cCa/cTa		1		1	NRP2	HGNC	HGNC:8005	protein_coding	YES	CCDS2364.1	ENSP00000353582		X5D2Q8	UPI0000000A04	NM_201266.1	deleterious(0.03)		16/17		PIRSF_domain:PIRSF036960																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	205792244	205792244	C	T	1	0	0	0	0	1	0	0	0	10719	594	21	3		3	NRP2	2	205792244	Missense_Mutation	SNP	C	C3N-00217_TP	9903981	205792244	36401285	120	12558											
CXCR2	0	.	GRCh38	chr2	218135446	218135446	+	Silent	SNP	C	C	A																															atgctgttacggatcctgccCcagtcctttggcttcatcgt																								novel		C3N-00217_TP	C3N-00217_NB	C	C																c.645C>A	p.=	p.P215P	ENST00000318507	3/3	141	106	35	131	131	0	strelka-varscan	CXCR2,synonymous_variant,p.=,ENST00000318507,NM_001168298.1,NM_001557.3;CXCR2,downstream_gene_variant,,ENST00000453237,;CXCR2,downstream_gene_variant,,ENST00000428565,;CXCR2,downstream_gene_variant,,ENST00000454148,;CXCR2,downstream_gene_variant,,ENST00000415392,;CXCR2,downstream_gene_variant,,ENST00000449014,;CXCR2,downstream_gene_variant,,ENST00000418878,;	A	ENST00000318507	Transcript	synonymous_variant	1072/2879	645/1083	215/360	P	ccC/ccA		1		1	CXCR2	HGNC	HGNC:6027	protein_coding	YES	CCDS2408.1	ENSP00000319635	P25025	Q53PC4	UPI000004358A	NM_001168298.1,NM_001557.3			3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR00427,PROSITE_profiles:PS50262,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF632,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	43	218135446	218135446	C	A	1	0	0	0	0	0	0	0	1	3902	610	22	2		2	CXCR2	2	218135446	Silent	SNP	C	C3N-00217_TP	12343202	218135446	24058083	121	12559	288	2									
CXCR2	0	.	GRCh38	chr2	218135447	218135447	+	Missense_Mutation	SNP	C	C	A																															tgctgttacggatcctgcccCagtcctttggcttcatcgtg																								novel		C3N-00217_TP	C3N-00217_NB	C	C																c.646C>A	p.Gln216Lys	p.Q216K	ENST00000318507	3/3	143	107	36	127	127	0	strelka-varscan	CXCR2,missense_variant,p.Gln216Lys,ENST00000318507,NM_001168298.1,NM_001557.3;CXCR2,downstream_gene_variant,,ENST00000453237,;CXCR2,downstream_gene_variant,,ENST00000428565,;CXCR2,downstream_gene_variant,,ENST00000454148,;CXCR2,downstream_gene_variant,,ENST00000415392,;CXCR2,downstream_gene_variant,,ENST00000449014,;CXCR2,downstream_gene_variant,,ENST00000418878,;	A	ENST00000318507	Transcript	missense_variant	1073/2879	646/1083	216/360	Q/K	Cag/Aag		1		1	CXCR2	HGNC	HGNC:6027	protein_coding	YES	CCDS2408.1	ENSP00000319635	P25025	Q53PC4	UPI000004358A	NM_001168298.1,NM_001557.3	tolerated(0.06)		3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR00427,PROSITE_profiles:PS50262,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF632,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	218135447	218135447	C	A	1	0	0	0	0	1	0	0	0	3902	595	21	2		2	CXCR2	2	218135447	Missense_Mutation	SNP	C	C3N-00217_TP	1	218135447	24058082	122	12560	288	2									
DES	0	.	GRCh38	chr2	219418814	219418814	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcaggagctcaatgacCgcttcgccaactacatcgag	11	7	10	13	3	1	1	1	1	0	0	3	3	1	2	2	1	5	4	2	1	3	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.352C>G	p.Arg118Gly	p.R118G	ENST00000373960	1/9	338	249	89	305	305	0	strelka-varscan	DES,missense_variant,p.Arg118Gly,ENST00000373960,NM_001927.3;DES,upstream_gene_variant,,ENST00000477226,;DES,upstream_gene_variant,,ENST00000492726,;	G	ENST00000373960	Transcript	missense_variant	438/2248	352/1413	118/470	R/G	Cgc/Ggc		1		1	DES	HGNC	HGNC:2770	protein_coding	YES	CCDS33383.1	ENSP00000363071	P17661	Q53SB5	UPI0000001603	NM_001927.3	deleterious(0)		1/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF28,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF64593																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	219418814	219418814	C	G	1	0	0	0	0	1	0	0	0	4255	652	23	4		4	DES	2	219418814	Missense_Mutation	SNP	C	C3N-00217_TP	1283367	219418814	22774715	123	12561											
SPEG	0	.	GRCh38	chr2	219483305	219483305	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgagttctctggctcccggGtgtccctcacagacattccc	5	10	9	17	2	2	1	1	0	1	1	6	2	5	1	4	2	0	2	4	2	0	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.5842G>C	p.Val1948Leu	p.V1948L	ENST00000312358	30/41	90	63	27	47	47	0	strelka-varscan	SPEG,missense_variant,p.Val1948Leu,ENST00000312358,NM_005876.4;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	C	ENST00000312358	Transcript	missense_variant	5974/10782	5842/9804	1948/3267	V/L	Gtg/Ctg		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	tolerated(0.05)		30/41		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF728																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	43	219483305	219483305	G	C	1	0	0	0	0	1	0	0	0	15387	1261	44	4		4	SPEG	2	219483305	Missense_Mutation	SNP	G	C3N-00217_TP	64491	219483305	22710224	124	12562											
DNER	0	.	GRCh38	chr2	229367090	229367090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggcatgttggtgaggctctCcgccatgtgcccggacttcc	4	11	13	13	2	1	1	0	1	1	0	3	2	2	2	4	4	1	3	4	4	0	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1885G>C	p.Glu629Gln	p.E629Q	ENST00000341772	12/13	248	169	79	198	198	0	strelka-varscan	DNER,missense_variant,p.Glu629Gln,ENST00000341772,NM_139072.3;	G	ENST00000341772	Transcript	missense_variant	2020/3260	1885/2214	629/737	E/Q	Gag/Cag		1		-1	DNER	HGNC	HGNC:24456	protein_coding	YES	CCDS33390.1	ENSP00000345229	Q8NFT8		UPI0000048EB8	NM_139072.3	deleterious(0.01)		12/13		hmmpanther:PTHR24044:SF275,hmmpanther:PTHR24044																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	229367090	229367090	C	G	1	0	0	0	0	1	0	0	0	4480	864	30	4		4	DNER	2	229367090	Missense_Mutation	SNP	C	C3N-00217_TP	9883785	229367090	12826439	125	12563											
AGAP1	0	.	GRCh38	chr2	235744770	235744770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtttccagaccgtttacCactactacagtcgaatggcc	11	11	7	12	2	0	1	0	0	0	1	2	2	1	1	4	1	3	2	4	1	5	6	rs141449009		C3N-00217_TP	C3N-00217_NB	C	C																c.469C>A	p.His157Asn	p.H157N	ENST00000304032	5/18	225	184	41	211	211	0	strelka-varscan	AGAP1,missense_variant,p.His157Asn,ENST00000304032,NM_001037131.2;AGAP1,missense_variant,p.His103Asn,ENST00000428334,;AGAP1,missense_variant,p.His103Asn,ENST00000614409,;AGAP1,missense_variant,p.His422Asn,ENST00000409538,;AGAP1,missense_variant,p.His157Asn,ENST00000336665,NM_014914.4;AGAP1,missense_variant,p.His157Asn,ENST00000409457,NM_001244888.1;AGAP1,missense_variant,p.His103Asn,ENST00000619456,;AGAP1,missense_variant,p.His104Asn,ENST00000402604,;AGAP1,3_prime_UTR_variant,,ENST00000635100,;	A	ENST00000304032	Transcript	missense_variant	1049/10832	469/2574	157/857	H/N	Cac/Aac	rs141449009,COSM5138612	1		1	AGAP1	HGNC	HGNC:16922	protein_coding	YES	CCDS33408.1	ENSP00000307634	Q9UPQ3		UPI00005E1AE1	NM_001037131.2	tolerated(1)		5/18		Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51419,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF226,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540											0,1						MODERATE	1	SNV	5		0,1	1										PASS		.	.												A	3	1	43	235744770	235744770	C	A	1	0	0	0	0	1	0	0	0	443	594	21	2		2	AGAP1	2	235744770	Missense_Mutation	SNP	C	C3N-00217_TP	6377680	235744770	6448759	126	12564											
KIF1A	0	.	GRCh38	chr2	240797720	240797720	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggaattgaaggggcggacCcgcaccgccaccttcaccga	9	4	13	15	5	1	1	1	1	0	0	1	4	1	3	5	4	0	1	5	4	2	2	rs765920658		C3N-00217_TP	C3N-00217_NB	C	C																c.33G>T	p.=	p.R11R	ENST00000498729	2/49	116	69	47	108	108	0	strelka-varscan-mutect	KIF1A,synonymous_variant,p.=,ENST00000498729,NM_001244008.1;KIF1A,synonymous_variant,p.=,ENST00000320389,NM_004321.6;KIF1A,synonymous_variant,p.=,ENST00000404283,;KIF1A,synonymous_variant,p.=,ENST00000448728,;	A	ENST00000498729	Transcript	synonymous_variant	280/9223	33/5376	11/1791	R	cgG/cgT	rs765920658	1		-1	KIF1A	HGNC	HGNC:888	protein_coding	YES	CCDS58757.1	ENSP00000438388	Q12756		UPI0002065B81	NM_001244008.1			2/49		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF361,SMART_domains:SM00129,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs765920658	.												A	2	1	43	240797720	240797720	C	A	1	0	0	0	0	0	0	0	1	8147	610	22	2		2	KIF1A	2	240797720	Silent	SNP	C	C3N-00217_TP	5052950	240797720	1395809	127	12565											
OXTR	0	.	GRCh38	chr3	8768134	8768134	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcggcccccggcggcgcGgcgctggcgttggctgcctc	0	6	16	19	7	0	0	0	0	0	0	2	0	0	0	4	6	1	3	4	6	0	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.54C>A	p.=	p.A18A	ENST00000316793	3/4	28	13	15	65	65	0	strelka-varscan-mutect	OXTR,synonymous_variant,p.=,ENST00000316793,NM_000916.3;OXTR,synonymous_variant,p.=,ENST00000431493,;OXTR,synonymous_variant,p.=,ENST00000449615,;CAV3,intron_variant,,ENST00000472766,;OXTR,downstream_gene_variant,,ENST00000474615,;	T	ENST00000316793	Transcript	synonymous_variant	679/4364	54/1170	18/389	A	gcC/gcA		1		-1	OXTR	HGNC	HGNC:8529	protein_coding	YES	CCDS2570.1	ENSP00000324270	P30559	B2R9L7	UPI000013FEA9	NM_000916.3			3/4		Prints_domain:PR00665,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF19,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	8768134	8768134	G	T	1	0	0	0	0	0	0	0	1	11411	1103	39	1		1	OXTR	3	8768134	Silent	SNP	G	C3N-00217_TP		8768134	189527425	128	12566											
SLC6A11	0	.	GRCh38	chr3	10938316	10938316	+	Frame_Shift_Del	DEL	C	C	-																															gcaagcttggggtgagcccaCggatggtgacagttaatgac																								rs752171053		C3N-00217_TP	C3N-00217_NB	C	C																c.1813delC	p.Arg605GlyfsTer3	p.R605Gfs*3	ENST00000254488	14/14	45	33	12	72	72	0	sindel-varindel	SLC6A11,frameshift_variant,p.Arg605GlyfsTer3,ENST00000254488,NM_014229.1;SLC6A11,downstream_gene_variant,,ENST00000464828,;	-	ENST00000254488	Transcript	frameshift_variant	1879/4296	1813/1899	605/632	R/X	Cgg/gg	rs752171053	1		1	SLC6A11	HGNC	HGNC:11044	protein_coding	YES	CCDS2602.1	ENSP00000254488	P48066		UPI00001354A6	NM_014229.1			14/14		Prints_domain:PR01197,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF124																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	43	10938316	10938316	C	-	1	0	1	0	1	0	0	0	0	14957	527	19	0		0	SLC6A11	3	10938316	Frame_Shift_Del	DEL	C	C3N-00217_TP	2170182	10938316	187357243	129	12567	289	2									
SLC6A11	0	.	GRCh38	chr3	10938318	10938318	+	Silent	SNP	G	G	A																															aagcttggggtgagcccacgGatggtgacagttaatgactg																										C3N-00217_TP	C3N-00217_NB	G	G																c.1815G>A	p.=	p.R605R	ENST00000254488	14/14	48	34	14	79	79	0	strelka-mutect	SLC6A11,synonymous_variant,p.=,ENST00000254488,NM_014229.1;SLC6A11,downstream_gene_variant,,ENST00000464828,;	A	ENST00000254488	Transcript	synonymous_variant	1881/4296	1815/1899	605/632	R	cgG/cgA	COSM270185,COSM3585162	1		1	SLC6A11	HGNC	HGNC:11044	protein_coding	YES	CCDS2602.1	ENSP00000254488	P48066		UPI00001354A6	NM_014229.1			14/14		Prints_domain:PR01197,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF124											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	43	10938318	10938318	G	A	1	0	0	0	0	0	0	0	1	14957	1161	41	3		3	SLC6A11	3	10938318	Silent	SNP	G	C3N-00217_TP	2	10938318	187357241	130	12568	289	2									
GALNT15	0	.	GRCh38	chr3	16175461	16175461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccgtggccttaccccagGccagaaggaaccagagccag	10	4	13	14	1	0	2	0	0	0	2	0	3	0	3	7	4	3	0	7	4	3	1			C3N-00217_TP	C3N-00217_NB	G	G																c.310G>T	p.Ala104Ser	p.A104S	ENST00000339732	1/10	82	47	35	119	119	0	strelka-varscan-mutect	GALNT15,missense_variant,p.Ala104Ser,ENST00000339732,NM_054110.4;GALNT15,missense_variant,p.Ala104Ser,ENST00000437509,;GALNT15,non_coding_transcript_exon_variant,,ENST00000470031,;GALNT15,upstream_gene_variant,,ENST00000430410,;	T	ENST00000339732	Transcript	missense_variant	813/4669	310/1920	104/639	A/S	Gcc/Tcc	COSM5548345	1		1	GALNT15	HGNC	HGNC:21531	protein_coding	YES	CCDS33711.1	ENSP00000344260	Q8N3T1		UPI0000048F0D	NM_054110.4	tolerated(0.1)		1/10		Low_complexity_(Seg):seg,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF36											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	43	16175461	16175461	G	T	1	0	0	0	0	1	0	0	0	6081	1203	42	2		2	GALNT15	3	16175461	Missense_Mutation	SNP	G	C3N-00217_TP	5237143	16175461	182120098	131	12569											
TMEM89	0	.	GRCh38	chr3	48621634	48621634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccctccacactctttggCtgacacccccagggctgcaa	8	7	8	18	0	1	1	0	1	1	0	2	1	2	1	4	2	2	3	4	2	1	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.123G>T	p.Gln41His	p.Q41H	ENST00000330862	1/2	198	149	49	201	201	0	strelka-varscan-mutect	TMEM89,missense_variant,p.Gln41His,ENST00000330862,NM_001008269.1;SLC26A6,downstream_gene_variant,,ENST00000358747,NM_001040454.1;SLC26A6,downstream_gene_variant,,ENST00000420764,NM_134263.2;SLC26A6,downstream_gene_variant,,ENST00000395550,NM_022911.2;SLC26A6,downstream_gene_variant,,ENST00000383733,NM_134426.2;SLC26A6,downstream_gene_variant,,ENST00000455886,NM_001281732.1;SLC26A6,downstream_gene_variant,,ENST00000337000,NM_001281733.1;SLC26A6,downstream_gene_variant,,ENST00000489483,;SLC26A6,downstream_gene_variant,,ENST00000480524,;SLC26A6,downstream_gene_variant,,ENST00000307364,;	A	ENST00000330862	Transcript	missense_variant	222/662	123/480	41/159	Q/H	caG/caT		1		-1	TMEM89	HGNC	HGNC:32372	protein_coding	YES	CCDS33751.1	ENSP00000329557	A2RUT3		UPI000006214F	NM_001008269.1	deleterious(0.02)		1/2		Pfam_domain:PF15098,hmmpanther:PTHR37869,hmmpanther:PTHR37869:SF1																	MODERATE	1	SNV	1			1										PASS		rs1266800926	.												A	3	1	43	48621634	48621634	C	A	1	0	0	0	0	1	0	0	0	16690	796	28	2		2	TMEM89	3	48621634	Missense_Mutation	SNP	C	C3N-00217_TP	32446173	48621634	149673925	132	12570											
PRICKLE2	0	.	GRCh38	chr3	64099432	64099432	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcatagtcctccctggcTctcagagggggcctatcttt	5	13	11	12	0	3	1	2	0	2	1	6	1	5	1	3	4	0	1	3	4	2	3	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.2154A>T	p.Arg718Ser	p.R718S	ENST00000295902	8/8	23	16	7	57	57	0	strelka-varscan-mutect	PRICKLE2,missense_variant,p.Arg718Ser,ENST00000295902,NM_198859.3;PRICKLE2,missense_variant,p.Arg774Ser,ENST00000564377,;PRICKLE2-AS1,non_coding_transcript_exon_variant,,ENST00000482609,;PRICKLE2-AS1,non_coding_transcript_exon_variant,,ENST00000476308,;PRICKLE2-AS2,upstream_gene_variant,,ENST00000484703,;PRICKLE2-AS1,upstream_gene_variant,,ENST00000460946,;	A	ENST00000295902	Transcript	missense_variant	2740/8305	2154/2535	718/844	R/S	agA/agT		1		-1	PRICKLE2	HGNC	HGNC:20340	protein_coding	YES	CCDS2902.1	ENSP00000295902	Q7Z3G6	A0A024R368	UPI0000160A8B	NM_198859.3	tolerated(0.34)		8/8		hmmpanther:PTHR24211:SF18,hmmpanther:PTHR24211																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	64099432	64099432	T	A	1	0	0	0	0	1	0	0	0	12619	1548	54	4		4	PRICKLE2	3	64099432	Missense_Mutation	SNP	T	C3N-00217_TP	15477798	64099432	134196127	133	12571											
EPHA3	0	.	GRCh38	chr3	89431173	89431173	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgatgcccagtttactgtCattcagctagtggggatgct	8	12	11	10	1	2	0	2	0	0	0	2	2	2	1	1	2	4	3	1	2	2	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2160C>T	p.=	p.V720V	ENST00000336596	13/17	177	118	59	159	159	0	strelka-varscan-mutect	EPHA3,synonymous_variant,p.=,ENST00000336596,NM_005233.5;EPHA3,synonymous_variant,p.=,ENST00000494014,;	T	ENST00000336596	Transcript	synonymous_variant	2385/5809	2160/2952	720/983	V	gtC/gtT		1		1	EPHA3	HGNC	HGNC:3387	protein_coding	YES	CCDS2922.1	ENSP00000337451	P29320	A0A140VJJ0	UPI0000163BE4	NM_005233.5			13/17		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	89431173	89431173	C	T	1	0	0	0	0	0	0	0	1	5015	813	29	3		3	EPHA3	3	89431173	Silent	SNP	C	C3N-00217_TP	25331741	89431173	108864386	134	12572											
MYH15	0	.	GRCh38	chr3	108454119	108454119	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattgcttccagttggccCagaaacccagctttaaaaaa	13	11	6	11	0	0	1	0	0	0	1	1	1	1	1	3	1	3	3	3	1	5	6	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2346G>A	p.=	p.L782L	ENST00000273353	22/42	84	71	13	82	82	0	strelka-varscan-mutect	MYH15,synonymous_variant,p.=,ENST00000273353,NM_014981.1;MYH15,downstream_gene_variant,,ENST00000495753,;MYH15,non_coding_transcript_exon_variant,,ENST00000478998,;	T	ENST00000273353	Transcript	synonymous_variant	2403/7074	2346/5841	782/1946	L	ctG/ctA		1		-1	MYH15	HGNC	HGNC:31073	protein_coding	YES	CCDS43127.1	ENSP00000273353	Q9Y2K3		UPI0000253B6F	NM_014981.1			22/42		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF475,hmmpanther:PTHR13140,SMART_domains:SM00242,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	108454119	108454119	C	T	1	0	0	0	0	0	0	0	1	10034	581	21	3		3	MYH15	3	108454119	Silent	SNP	C	C3N-00217_TP	19022946	108454119	89841440	135	12573											
CCDC80	0	.	GRCh38	chr3	112638191	112638191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttgctctttttctcaGacttcttcatttgcttttca	4	22	4	11	0	5	1	3	0	3	1	6	1	5	1	0	0	3	3	0	0	0	9	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1715C>A	p.Ser572Tyr	p.S572Y	ENST00000206423	2/8	258	165	93	311	309	2	strelka-varscan-mutect	CCDC80,missense_variant,p.Ser572Tyr,ENST00000206423,NM_199511.2;CCDC80,missense_variant,p.Ser572Tyr,ENST00000439685,NM_199512.2;CCDC80,upstream_gene_variant,,ENST00000461431,;CCDC80,downstream_gene_variant,,ENST00000475181,;CCDC80,downstream_gene_variant,,ENST00000480275,;CCDC80,downstream_gene_variant,,ENST00000469554,;CCDC80,downstream_gene_variant,,ENST00000473959,;	T	ENST00000206423	Transcript	missense_variant	2669/12430	1715/2853	572/950	S/Y	tCt/tAt		1		-1	CCDC80	HGNC	HGNC:30649	protein_coding	YES	CCDS2968.1	ENSP00000206423	Q76M96		UPI000004EE7F	NM_199511.2	deleterious(0.02)		2/8		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	112638191	112638191	G	T	1	0	0	0	0	1	0	0	0	2552	942	33	2		2	CCDC80	3	112638191	Missense_Mutation	SNP	G	C3N-00217_TP	4184072	112638191	85657368	136	12574											
USF3	0	.	GRCh38	chr3	113659315	113659315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaccttttagatttcatGttaggcaaacaagcaacagt	14	13	6	8	0	2	1	2	0	0	1	2	1	2	1	1	1	4	3	1	1	6	5	rs747143801		C3N-00217_TP	C3N-00217_NB	G	G																c.2367C>A	p.Asn789Lys	p.N789K	ENST00000316407	7/7	263	195	68	262	262	0	strelka-varscan-mutect	USF3,missense_variant,p.Asn789Lys,ENST00000316407,NM_001009899.3;USF3,missense_variant,p.Asn789Lys,ENST00000478658,;USF3,intron_variant,,ENST00000491165,;USF3,non_coding_transcript_exon_variant,,ENST00000496826,;	T	ENST00000316407	Transcript	missense_variant	2778/13708	2367/6738	789/2245	N/K	aaC/aaA	rs747143801	1		-1	USF3	HGNC	HGNC:30494	protein_coding	YES	CCDS43133.1	ENSP00000320794	Q68DE3		UPI0004438052	NM_001009899.3	tolerated_low_confidence(0.09)		7/7																			MODERATE	1	SNV	5			1										PASS		rs747143801	.												T	3	4	43	113659315	113659315	G	T	1	0	0	0	0	1	0	0	0	17567	1368	48	2		2	USF3	3	113659315	Missense_Mutation	SNP	G	C3N-00217_TP	1021124	113659315	84636244	137	12575											
PLA1A	0	.	GRCh38	chr3	119609529	119609529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagcctgggggcccacgttgGgggcatggtgggacagctct	5	8	18	10	1	1	0	0	0	1	0	1	1	1	1	2	6	2	3	2	6	1	2	rs751075487		C3N-00217_TP	C3N-00217_NB	G	G																c.515G>T	p.Gly172Val	p.G172V	ENST00000273371	4/11	222	155	67	198	197	1	strelka-varscan-mutect	PLA1A,missense_variant,p.Gly172Val,ENST00000273371,NM_015900.3;PLA1A,missense_variant,p.Gly156Val,ENST00000494440,NM_001293225.1;PLA1A,missense_variant,p.Gly156Val,ENST00000495992,NM_001206960.1;PLA1A,missense_variant,p.Gly38Val,ENST00000475963,;PLA1A,5_prime_UTR_variant,,ENST00000488919,NM_001206961.1;PLA1A,downstream_gene_variant,,ENST00000472126,;	T	ENST00000273371	Transcript	missense_variant	587/1786	515/1371	172/456	G/V	gGg/gTg	rs751075487	1		1	PLA1A	HGNC	HGNC:17661	protein_coding	YES	CCDS2991.1	ENSP00000273371	Q53H76		UPI0000073F97	NM_015900.3	deleterious(0)		4/11		hmmpanther:PTHR11610:SF111,hmmpanther:PTHR11610,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474,Prints_domain:PR00821																	MODERATE	1	SNV	1			1										PASS		rs751075487	.												T	3	4	43	119609529	119609529	G	T	1	0	0	0	0	1	0	0	0	12084	1232	43	2		2	PLA1A	3	119609529	Missense_Mutation	SNP	G	C3N-00217_TP	5950214	119609529	78686030	138	12576											
PLA1A	0	.	GRCh38	chr3	119613032	119613032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacaggcctggaccccgctgGacctgagtacaccagggcca	9	4	12	16	1	0	1	0	1	0	0	0	3	0	3	6	4	1	2	6	4	1	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.578G>T	p.Gly193Val	p.G193V	ENST00000273371	5/11	83	57	26	90	90	0	strelka-varscan-mutect	PLA1A,missense_variant,p.Gly193Val,ENST00000273371,NM_015900.3;PLA1A,missense_variant,p.Gly177Val,ENST00000494440,NM_001293225.1;PLA1A,missense_variant,p.Gly177Val,ENST00000495992,NM_001206960.1;PLA1A,missense_variant,p.Gly20Val,ENST00000488919,NM_001206961.1;PLA1A,missense_variant,p.Gly59Val,ENST00000475963,;	T	ENST00000273371	Transcript	missense_variant	650/1786	578/1371	193/456	G/V	gGa/gTa		1		1	PLA1A	HGNC	HGNC:17661	protein_coding	YES	CCDS2991.1	ENSP00000273371	Q53H76		UPI0000073F97	NM_015900.3	deleterious(0)		5/11		hmmpanther:PTHR11610:SF111,hmmpanther:PTHR11610,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	119613032	119613032	G	T	1	0	0	0	0	1	0	0	0	12084	1174	41	2		2	PLA1A	3	119613032	Missense_Mutation	SNP	G	C3N-00217_TP	3503	119613032	78682527	139	12577											
MAATS1	0	.	GRCh38	chr3	119740569	119740569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttgaagggaaagaaaaGcgactggagttgatccagga	15	8	14	4	1	0	3	0	2	0	1	1	7	1	6	1	3	1	2	1	3	4	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1554G>T	p.Lys518Asn	p.K518N	ENST00000273390	13/18	163	107	56	136	136	0	strelka-varscan-mutect	MAATS1,missense_variant,p.Lys518Asn,ENST00000273390,NM_001320318.1,NM_001320316.1,NM_033364.3;RP11-169N13.4,downstream_gene_variant,,ENST00000489428,;MAATS1,3_prime_UTR_variant,,ENST00000482573,NM_001320318.1,NM_001320317.1;MAATS1,3_prime_UTR_variant,,ENST00000482927,;MAATS1,3_prime_UTR_variant,,ENST00000475093,;MAATS1,non_coding_transcript_exon_variant,,ENST00000483134,;MAATS1,non_coding_transcript_exon_variant,,ENST00000468630,;MAATS1,downstream_gene_variant,,ENST00000461322,;	T	ENST00000273390	Transcript	missense_variant	1631/4433	1554/2304	518/767	K/N	aaG/aaT		1		1	MAATS1	HGNC	HGNC:24010	protein_coding	YES	CCDS2994.1	ENSP00000273390	Q7Z4T9		UPI00001C1DFE	NM_001320318.1,NM_001320316.1,NM_033364.3	tolerated(0.15)		13/18		hmmpanther:PTHR22455,hmmpanther:PTHR22455:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	119740569	119740569	G	T	1	0	0	0	0	1	0	0	0	9055	962	34	2		2	MAATS1	3	119740569	Missense_Mutation	SNP	G	C3N-00217_TP	127537	119740569	78554990	140	12578											
ARGFX	0	.	GRCh38	chr3	121570721	121570721	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttcagaaaccatgaggaAcagaatggccccagagaatc	16	6	10	9	0	1	4	1	1	0	3	2	7	1	5	3	2	2	0	3	2	4	1	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.8A>G	p.Asn3Ser	p.N3S	ENST00000334384	1/4	121	84	37	102	102	0	strelka-varscan-mutect	ARGFX,missense_variant,p.Asn3Ser,ENST00000334384,NM_001012659.1;	G	ENST00000334384	Transcript	missense_variant	18/992	8/948	3/315	N/S	aAc/aGc		1		1	ARGFX	HGNC	HGNC:30146	protein_coding	YES	CCDS33834.1	ENSP00000335578	A6NJG6		UPI00004ED62C	NM_001012659.1	tolerated(0.1)		1/4																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	43	121570721	121570721	A	G	1	0	0	0	0	1	0	0	0	983	43	2	5		5	ARGFX	3	121570721	Missense_Mutation	SNP	A	C3N-00217_TP	1830152	121570721	76724838	141	12579											
ITGB5	0	.	GRCh38	chr3	124764506	124764506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagcccaacaaggaggatgCtaccgaccacagccaggagg	14	2	12	13	1	0	0	0	0	0	0	0	4	0	3	4	4	5	1	4	4	4	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2189G>T	p.Ser730Ile	p.S730I	ENST00000296181	14/15	98	64	34	98	98	0	strelka-varscan-mutect	ITGB5,missense_variant,p.Ser730Ile,ENST00000296181,NM_002213.4;ITGB5,downstream_gene_variant,,ENST00000481591,;ITGB5,non_coding_transcript_exon_variant,,ENST00000461306,;ITGB5,non_coding_transcript_exon_variant,,ENST00000460797,;	A	ENST00000296181	Transcript	missense_variant	2486/4372	2189/2400	730/799	S/I	aGc/aTc		1		-1	ITGB5	HGNC	HGNC:6160	protein_coding	YES	CCDS3030.1	ENSP00000296181	P18084	L7RT22	UPI000012DA10	NM_002213.4	deleterious(0.03)		14/15		Gene3D:1.20.5.100,PIRSF_domain:PIRSF002512,Prints_domain:PR01186,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF26,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	124764506	124764506	C	A	1	0	0	0	0	1	0	0	0	7804	797	28	2		2	ITGB5	3	124764506	Missense_Mutation	SNP	C	C3N-00217_TP	3193785	124764506	73531053	142	12580											
UROC1	0	.	GRCh38	chr3	126505954	126505954	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctctcaccacagtgccAtgaacgattccctggggacc	9	8	8	16	1	2	1	1	1	1	0	4	3	3	2	5	2	2	0	5	2	1	1	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.660T>A	p.His220Gln	p.H220Q	ENST00000383579	7/21	318	223	95	313	313	0	strelka-varscan-mutect	UROC1,missense_variant,p.His220Gln,ENST00000290868,NM_144639.2;UROC1,missense_variant,p.His220Gln,ENST00000383579,NM_001165974.1;	T	ENST00000383579	Transcript	missense_variant	694/2735	660/2211	220/736	H/Q	caT/caA		1		-1	UROC1	HGNC	HGNC:26444	protein_coding	YES	CCDS54636.1	ENSP00000373073	Q96N76		UPI0000480109	NM_001165974.1	deleterious(0)		7/21		HAMAP:MF_00577,Pfam_domain:PF01175,hmmpanther:PTHR12216,hmmpanther:PTHR12216:SF3,Superfamily_domains:SSF111326																	MODERATE	1	SNV	1			1										PASS		rs1211889706	.												T	3	4	43	126505954	126505954	A	T	1	0	0	0	0	1	0	0	0	17560	214	8	4		4	UROC1	3	126505954	Missense_Mutation	SNP	A	C3N-00217_TP	1741448	126505954	71789605	143	12581											
COL6A5	0	.	GRCh38	chr3	130440648	130440648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaaaatgatggctttgaggGctaagtgtcaaggctacgtc	12	11	12	6	1	1	2	1	2	0	0	2	2	1	2	0	3	1	3	0	3	6	4			C3N-00217_TP	C3N-00217_NB	G	G																c.6298G>T	p.Ala2100Ser	p.A2100S	ENST00000265379	36/43	167	122	45	207	207	0	strelka-varscan-mutect	COL6A5,missense_variant,p.Ala2100Ser,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,missense_variant,p.Ala356Ser,ENST00000512836,;COL6A5,missense_variant,p.Ala47Ser,ENST00000373157,;COL6A5,upstream_gene_variant,,ENST00000512482,;COL6A5,missense_variant,p.Ala2104Ser,ENST00000312481,;	T	ENST00000265379	Transcript	missense_variant	6792/9214	6298/7836	2100/2611	A/S	Gct/Tct	COSM3060702,COSM3060703,COSM4319033	1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1	deleterious(0)		36/43		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF133,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												T	3	4	43	130440648	130440648	G	T	1	0	0	0	0	1	0	0	0	3491	1203	42	2		2	COL6A5	3	130440648	Missense_Mutation	SNP	G	C3N-00217_TP	3934694	130440648	67854911	144	12582											
IL20RB	0	.	GRCh38	chr3	136980589	136980589	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactattctgtcgaataccAggggtgagttttttctttta	8	18	9	6	1	2	1	0	1	2	0	3	2	2	1	1	2	2	2	1	2	5	9			C3N-00217_TP	C3N-00217_NB	A	A																c.212A>T	p.Gln71Leu	p.Q71L	ENST00000329582	2/7	168	113	55	190	190	0	strelka-varscan-mutect	IL20RB,missense_variant,p.Gln71Leu,ENST00000329582,NM_144717.3;IL20RB-AS1,intron_variant,,ENST00000462176,;IL20RB,intron_variant,,ENST00000484501,;IL20RB,missense_variant,p.Gln39Leu,ENST00000475972,;IL20RB,3_prime_UTR_variant,,ENST00000469964,;IL20RB,3_prime_UTR_variant,,ENST00000491483,;	T	ENST00000329582	Transcript	missense_variant	461/2047	212/936	71/311	Q/L	cAg/cTg	COSM4113881,COSM4113882	1		1	IL20RB	HGNC	HGNC:6004	protein_coding	YES	CCDS3093.1	ENSP00000328133	Q6UXL0		UPI000003E7F6	NM_144717.3	deleterious(0)		2/7		PROSITE_profiles:PS50853,hmmpanther:PTHR20859:SF48,hmmpanther:PTHR20859,Pfam_domain:PF01108,Gene3D:2.60.40.10,Superfamily_domains:SSF49265											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs771839384	.												T	3	4	43	136980589	136980589	A	T	1	0	0	0	0	1	0	0	0	7572	202	7	4		4	IL20RB	3	136980589	Missense_Mutation	SNP	A	C3N-00217_TP	6539941	136980589	61314970	145	12583											
SPSB4	0	.	GRCh38	chr3	141066589	141066589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccggcgtggcctaccCggcctttctggggcccgacg	3	6	14	18	5	1	0	0	0	1	0	1	1	1	0	6	5	2	0	6	5	1	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.485C>A	p.Pro162Gln	p.P162Q	ENST00000310546	2/3	31	22	9	25	25	0	strelka-varscan-mutect	SPSB4,missense_variant,p.Pro162Gln,ENST00000310546,NM_080862.2;SPSB4,upstream_gene_variant,,ENST00000508126,;	A	ENST00000310546	Transcript	missense_variant	1229/2908	485/822	162/273	P/Q	cCg/cAg		1		1	SPSB4	HGNC	HGNC:30630	protein_coding	YES	CCDS3115.1	ENSP00000311609	Q96A44		UPI00000734A4	NM_080862.2	deleterious(0)		2/3		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF3,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs1222450992	.												A	3	1	43	141066589	141066589	C	A	1	0	0	0	0	1	0	0	0	15471	652	23	1		1	SPSB4	3	141066589	Missense_Mutation	SNP	C	C3N-00217_TP	4086000	141066589	57228970	146	12584											
RASA2	0	.	GRCh38	chr3	141512253	141512253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaccaggaagaagtttatcGtacccaagttgtggaaaaat	15	9	11	6	1	0	1	0	0	0	1	1	4	0	4	2	3	1	3	2	3	7	4	rs759141778		C3N-00217_TP	C3N-00217_NB	G	G																c.224G>A	p.Arg75His	p.R75H	ENST00000286364	2/24	128	109	19	186	186	0	strelka-varscan-mutect	RASA2,missense_variant,p.Arg75His,ENST00000286364,NM_001303246.1,NM_001303245.1,NM_006506.3;RASA2,missense_variant,p.Arg75His,ENST00000452898,;RASA2,3_prime_UTR_variant,,ENST00000515549,;	A	ENST00000286364	Transcript	missense_variant	259/5614	224/2550	75/849	R/H	cGt/cAt	rs759141778,COSM3124692,COSM76170	1		1	RASA2	HGNC	HGNC:9872	protein_coding	YES	CCDS3117.1	ENSP00000286364	Q15283		UPI00001351F5	NM_001303246.1,NM_001303245.1,NM_006506.3	deleterious(0)		2/24		PROSITE_profiles:PS50004,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF21,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs759141778	.												A	3	1	43	141512253	141512253	G	A	1	0	0	0	0	1	0	0	0	13220	1145	40	1		1	RASA2	3	141512253	Missense_Mutation	SNP	G	C3N-00217_TP	445664	141512253	56783306	147	12585											
TSC22D2	0	.	GRCh38	chr3	150411059	150411059	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcacacacagcgcaccaaCaagtctaccacagtctgacc	14	4	7	16	1	2	1	0	1	2	0	2	1	2	1	3	1	3	2	3	1	3	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1709C>G	p.Thr570Arg	p.T570R	ENST00000361875	1/4	207	139	68	180	180	0	strelka-varscan-mutect	TSC22D2,missense_variant,p.Thr570Arg,ENST00000361875,NM_014779.3;TSC22D2,missense_variant,p.Thr18Arg,ENST00000466814,;TSC22D2,missense_variant,p.Thr31Arg,ENST00000480589,;TSC22D2,upstream_gene_variant,,ENST00000485421,;	G	ENST00000361875	Transcript	missense_variant	2725/11154	1709/2343	570/780	T/R	aCa/aGa		1		1	TSC22D2	HGNC	HGNC:29095	protein_coding	YES	CCDS3149.1	ENSP00000354543	O75157		UPI00000722E0	NM_014779.3	tolerated(0.13)		1/4		hmmpanther:PTHR12348,hmmpanther:PTHR12348:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	150411059	150411059	C	G	1	0	0	0	0	1	0	0	0	17114	478	17	4		4	TSC22D2	3	150411059	Missense_Mutation	SNP	C	C3N-00217_TP	8898806	150411059	47884500	148	12586											
IL1RAP	0	.	GRCh38	chr3	190656470	190656470	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgggagacacacctctgtAagcctgttccccaagagtca	11	8	10	12	0	2	2	1	0	1	2	3	3	3	2	4	1	1	2	4	1	2	2	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1927A>G	p.Lys643Glu	p.K643E	ENST00000317757	12/12	243	219	24	196	196	0	strelka-varscan-mutect	IL1RAP,missense_variant,p.Lys643Glu,ENST00000317757,NM_001167931.1;IL1RAP,missense_variant,p.Lys643Glu,ENST00000443369,;IL1RAP,downstream_gene_variant,,ENST00000412504,;IL1RAP,downstream_gene_variant,,ENST00000447382,NM_002182.3;IL1RAP,downstream_gene_variant,,ENST00000072516,NM_001167929.1;RP11-268E23.2,upstream_gene_variant,,ENST00000609508,;IL1RAP,downstream_gene_variant,,ENST00000413869,;IL1RAP,downstream_gene_variant,,ENST00000342550,;	G	ENST00000317757	Transcript	missense_variant	2133/5413	1927/2064	643/687	K/E	Aag/Gag		1		1	IL1RAP	HGNC	HGNC:5995	protein_coding	YES	CCDS54696.1	ENSP00000314807	Q9NPH3		UPI000020A9C1	NM_001167931.1	deleterious_low_confidence(0.01)		12/12																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	190656470	190656470	A	G	1	0	0	0	0	1	0	0	0	7563	363	13	5		5	IL1RAP	3	190656470	Missense_Mutation	SNP	A	C3N-00217_TP	40245411	190656470	7639089	149	12587											
PIGG	0	.	GRCh38	chr4	523652	523652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctactttctgggagatgacgGtgagcctccgtgtggcctct	5	12	13	11	2	2	3	0	2	2	1	3	4	3	3	3	3	2	0	3	3	1	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1808G>T	p.Gly603Val	p.G603V	ENST00000453061	9/13	241	172	69	234	234	0	strelka-varscan-mutect	PIGG,missense_variant,p.Gly603Val,ENST00000453061,NM_001127178.2;PIGG,missense_variant,p.Gly595Val,ENST00000310340,NM_017733.4;PIGG,missense_variant,p.Gly514Val,ENST00000504346,NM_001289051.1;PIGG,missense_variant,p.Gly470Val,ENST00000383028,NM_001289052.1;PIGG,downstream_gene_variant,,ENST00000509768,NM_001289053.1;PIGG,downstream_gene_variant,,ENST00000503111,NM_001289057.1;PIGG,upstream_gene_variant,,ENST00000510235,;PIGG,non_coding_transcript_exon_variant,,ENST00000511247,;PIGG,non_coding_transcript_exon_variant,,ENST00000508562,;PIGG,downstream_gene_variant,,ENST00000506898,;PIGG,downstream_gene_variant,,ENST00000507493,;PIGG,upstream_gene_variant,,ENST00000503261,;PIGG,downstream_gene_variant,,ENST00000513679,;PIGG,downstream_gene_variant,,ENST00000506402,;PIGG,downstream_gene_variant,,ENST00000504187,;PIGG,upstream_gene_variant,,ENST00000511666,;PIGG,upstream_gene_variant,,ENST00000508669,;	T	ENST00000453061	Transcript	missense_variant	1914/3218	1808/2952	603/983	G/V	gGt/gTt		1		1	PIGG	HGNC	HGNC:25985	protein_coding	YES	CCDS46992.1	ENSP00000415203	Q5H8A4		UPI00004C7A82	NM_001127178.2	tolerated(0.49)		9/13																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	523652	523652	G	T	1	0	0	0	0	1	0	0	0	11982	1261	44	2		2	PIGG	4	523652	Missense_Mutation	SNP	G	C3N-00217_TP		523652	189690903	150	12588											
CLRN2	0	.	GRCh38	chr4	17515290	17515290	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggatggttcaaaaaggcGtggtatgggctggcgtcttt	7	12	15	7	2	2	0	1	0	1	0	2	1	2	1	1	6	0	3	1	6	3	3	rs759541960		C3N-00217_TP	C3N-00217_NB	G	G																c.24G>T	p.=	p.A8A	ENST00000511148	1/3	151	103	48	131	131	0	strelka-varscan-mutect	CLRN2,synonymous_variant,p.=,ENST00000511148,NM_001079827.2;QDPR,upstream_gene_variant,,ENST00000281243,NM_000320.2;QDPR,upstream_gene_variant,,ENST00000428702,NM_001306140.1;QDPR,upstream_gene_variant,,ENST00000513615,;QDPR,upstream_gene_variant,,ENST00000505710,;QDPR,upstream_gene_variant,,ENST00000508623,;QDPR,upstream_gene_variant,,ENST00000507439,;QDPR,upstream_gene_variant,,ENST00000514300,;	T	ENST00000511148	Transcript	synonymous_variant	126/823	24/699	8/232	A	gcG/gcT	rs759541960	1		1	CLRN2	HGNC	HGNC:33939	protein_coding	YES	CCDS47032.1	ENSP00000424711	A0PK11		UPI0000D6154A	NM_001079827.2			1/3		hmmpanther:PTHR31548,hmmpanther:PTHR31548:SF5																	LOW	1	SNV	1			1										PASS		rs759541960	.												T	2	4	43	17515290	17515290	G	T	1	0	0	0	0	0	0	0	1	3330	1132	40	1		1	CLRN2	4	17515290	Silent	SNP	G	C3N-00217_TP	16991638	17515290	172699265	151	12589											
ADGRA3	0	.	GRCh38	chr4	22454865	22454865	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagaaaagatatacttaCagccgaaccagattggtgag	17	7	11	6	1	0	4	0	1	0	3	0	6	0	5	2	2	4	0	2	2	7	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.473+1G>T		p.X158_splice	ENST00000334304		152	118	34	203	202	1	strelka-varscan-mutect	ADGRA3,splice_donor_variant,,ENST00000334304,NM_145290.3;ADGRA3,splice_donor_variant,,ENST00000502482,;ADGRA3,splice_donor_variant,,ENST00000514129,;ADGRA3,splice_donor_variant,,ENST00000282943,;ADGRA3,splice_donor_variant,,ENST00000513385,;ADGRA3,splice_donor_variant,,ENST00000514749,;ADGRA3,intron_variant,,ENST00000506133,;	A	ENST00000334304	Transcript	splice_donor_variant	-/4566	473/3966	158/1321				1		-1	ADGRA3	HGNC	HGNC:13839	protein_coding	YES	CCDS33964.1	ENSP00000334952	Q8IWK6		UPI00001D7735	NM_145290.3				4/18																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	43	22454865	22454865	C	A	1	0	0	0	0	0	0	1	0	354	492	17	2		2	ADGRA3	4	22454865	Splice_Site	SNP	C	C3N-00217_TP	4939575	22454865	167759690	152	12590											
TLR10	0	.	GRCh38	chr4	38774319	38774319	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatgacagattcatattGaccacagtttctggccatga	11	14	8	8	0	2	4	1	3	1	1	2	4	2	4	2	1	0	2	2	1	2	6	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1272C>A	p.=	p.V424V	ENST00000308973	4/4	60	41	19	87	87	0	strelka-varscan-mutect	TLR10,synonymous_variant,p.=,ENST00000308973,NM_030956.3;TLR10,synonymous_variant,p.=,ENST00000613579,NM_001195108.1,NM_001195106.1;TLR10,synonymous_variant,p.=,ENST00000622002,NM_001195107.1;TLR10,synonymous_variant,p.=,ENST00000361424,NM_001017388.2;TLR10,synonymous_variant,p.=,ENST00000506111,;TLR10,synonymous_variant,p.=,ENST00000508334,;TLR10,downstream_gene_variant,,ENST00000502321,;TLR10,downstream_gene_variant,,ENST00000507953,;	T	ENST00000308973	Transcript	synonymous_variant	1878/3958	1272/2436	424/811	V	gtC/gtA		1		-1	TLR10	HGNC	HGNC:15634	protein_coding	YES	CCDS3445.1	ENSP00000308925	Q9BXR5	A0A024R9W4	UPI0000048F1C	NM_030956.3			4/4		hmmpanther:PTHR24365:SF131,hmmpanther:PTHR24365,PIRSF_domain:PIRSF037595,Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	43	38774319	38774319	G	T	1	0	0	0	0	0	0	0	1	16396	1277	45	2		2	TLR10	4	38774319	Silent	SNP	G	C3N-00217_TP	16319454	38774319	151440236	153	12591											
SLC10A4	0	.	GRCh38	chr4	48483594	48483594	+	Missense_Mutation	SNP	C	C	G																															gacaacgtgaccctgctcttCgcccctctgctgcgggacaa																								novel		C3N-00217_TP	C3N-00217_NB	C	C																c.33C>G	p.Phe11Leu	p.F11L	ENST00000273861	1/3	285	252	33	252	252	0	strelka-varscan-mutect	SLC10A4,missense_variant,p.Phe11Leu,ENST00000273861,NM_152679.3;	G	ENST00000273861	Transcript	missense_variant	252/1790	33/1314	11/437	F/L	ttC/ttG		1		1	SLC10A4	HGNC	HGNC:22980	protein_coding	YES	CCDS3482.1	ENSP00000273861	Q96EP9		UPI000006E8DB	NM_152679.3	tolerated_low_confidence(0.8)		1/3																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	48483594	48483594	C	G	1	0	0	0	0	1	0	0	0	14641	883	31	4		4	SLC10A4	4	48483594	Missense_Mutation	SNP	C	C3N-00217_TP	9709275	48483594	141730961	154	12592	290	2									
SLC10A4	0	.	GRCh38	chr4	48483595	48483595	+	Missense_Mutation	SNP	G	G	A																															acaacgtgaccctgctcttcGcccctctgctgcgggacaac																								rs567760048		C3N-00217_TP	C3N-00217_NB	G	G																c.34G>A	p.Ala12Thr	p.A12T	ENST00000273861	1/3	289	257	32	254	254	0	strelka-varscan-mutect	SLC10A4,missense_variant,p.Ala12Thr,ENST00000273861,NM_152679.3;	A	ENST00000273861	Transcript	missense_variant	253/1790	34/1314	12/437	A/T	Gcc/Acc	rs567760048	1		1	SLC10A4	HGNC	HGNC:22980	protein_coding	YES	CCDS3482.1	ENSP00000273861	Q96EP9		UPI000006E8DB	NM_152679.3	tolerated_low_confidence(0.36)		1/3																			MODERATE	1	SNV	1			1										PASS		rs567760048	.												A	3	1	43	48483595	48483595	G	A	1	0	0	0	0	1	0	0	0	14641	1087	38	1		1	SLC10A4	4	48483595	Missense_Mutation	SNP	G	C3N-00217_TP	1	48483595	141730960	155	12593	290	2									
KDR	0	.	GRCh38	chr4	55102397	55102397	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctcattatctttaaacCacatgatctgtggaggggga	10	12	12	7	0	3	1	1	1	3	0	4	3	3	3	1	4	1	0	1	4	3	3			C3N-00217_TP	C3N-00217_NB	C	C																c.2099G>A	p.Trp700Ter	p.W700*	ENST00000263923	14/30	269	193	76	301	301	0	strelka-varscan-mutect	KDR,stop_gained,p.Trp700Ter,ENST00000263923,NM_002253.2;KDR,downstream_gene_variant,,ENST00000512566,;	T	ENST00000263923	Transcript	stop_gained	2395/5831	2099/4071	700/1356	W/*	tGg/tAg	COSM4992136	1		-1	KDR	HGNC	HGNC:6307	protein_coding	YES	CCDS3497.1	ENSP00000263923	P35968	A0A024RD88	UPI000003AE04	NM_002253.2			14/30		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	43	55102397	55102397	C	T	1	0	0	0	0	0	1	0	0	8059	595	21	3		3	KDR	4	55102397	Nonsense_Mutation	SNP	C	C3N-00217_TP	6618802	55102397	135112158	156	12594											
KIAA1211	0	.	GRCh38	chr4	56314928	56314928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatttccagggggccgatCgtcctgggcccgaggaaaag	8	6	17	10	3	0	0	0	0	0	0	3	4	2	2	4	5	0	0	4	5	2	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1426C>A	p.Arg476Ser	p.R476S	ENST00000504228	6/9	263	187	76	227	227	0	strelka-varscan-mutect	KIAA1211,missense_variant,p.Arg476Ser,ENST00000504228,;KIAA1211,missense_variant,p.Arg469Ser,ENST00000541073,;KIAA1211,missense_variant,p.Arg476Ser,ENST00000264229,NM_020722.1;KIAA1211,downstream_gene_variant,,ENST00000636006,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;	A	ENST00000504228	Transcript	missense_variant	1531/4628	1426/3702	476/1233	R/S	Cgt/Agt		1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309		tolerated(0.11)		6/9																			MODERATE	1	SNV	5			1										PASS		rs1407907307	.												A	3	1	43	56314928	56314928	C	A	1	0	0	0	0	1	0	0	0	8107	884	31	1		1	KIAA1211	4	56314928	Missense_Mutation	SNP	C	C3N-00217_TP	1212531	56314928	133899627	157	12595											
TECRL	0	.	GRCh38	chr4	64309848	64309848	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcaaatttttcaaaggtGtgtgtcctgcagaaactttg	11	16	8	6	0	2	1	2	0	0	1	3	1	3	1	1	1	2	1	1	1	4	4			C3N-00217_TP	C3N-00217_NB	G	G																c.635C>G	p.Thr212Arg	p.T212R	ENST00000381210	6/12	157	133	24	249	249	0	strelka-varscan-mutect	TECRL,missense_variant,p.Thr212Arg,ENST00000381210,NM_001010874.4;TECRL,missense_variant,p.Thr212Arg,ENST00000507440,;TECRL,non_coding_transcript_exon_variant,,ENST00000513125,;TECRL,non_coding_transcript_exon_variant,,ENST00000511356,;	C	ENST00000381210	Transcript	missense_variant	746/3573	635/1092	212/363	T/R	aCa/aGa	COSM1267605	1		-1	TECRL	HGNC	HGNC:27365	protein_coding	YES	CCDS33990.1	ENSP00000370607	Q5HYJ1		UPI0000141A54	NM_001010874.4	deleterious(0.01)		6/12		Pfam_domain:PF02544,hmmpanther:PTHR10556,hmmpanther:PTHR10556:SF27											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	43	64309848	64309848	G	C	1	0	0	0	0	1	0	0	0	16157	1377	48	4		4	TECRL	4	64309848	Missense_Mutation	SNP	G	C3N-00217_TP	7994920	64309848	125904707	158	12596											
TMPRSS11B	0	.	GRCh38	chr4	68227964	68227964	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataagaagtcactcgagtatAgacacctggcttattctttt	12	14	7	8	1	2	2	1	0	1	2	3	3	2	2	1	1	0	2	1	1	5	7	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1198T>C	p.Tyr400His	p.Y400H	ENST00000332644	10/10	111	99	12	161	161	0	strelka-varscan-mutect	TMPRSS11B,missense_variant,p.Tyr400His,ENST00000332644,NM_182502.3;TMPRSS11B,downstream_gene_variant,,ENST00000502365,;TMPRSS11B,downstream_gene_variant,,ENST00000510856,;	G	ENST00000332644	Transcript	missense_variant	1360/2671	1198/1251	400/416	Y/H	Tat/Cat		1		-1	TMPRSS11B	HGNC	HGNC:25398	protein_coding	YES	CCDS3521.1	ENSP00000330475	Q86T26		UPI000013E249	NM_182502.3	deleterious(0)		10/10		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF171,hmmpanther:PTHR24256,PIRSF_domain:PIRSF037941,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	68227964	68227964	A	G	1	0	0	0	0	1	0	0	0	16716	420	15	5		5	TMPRSS11B	4	68227964	Missense_Mutation	SNP	A	C3N-00217_TP	3918116	68227964	121986591	159	12597											
TMPRSS11B	0	.	GRCh38	chr4	68229281	68229281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catataaagtgttccccaacCtgtaactacaacattgtcat	14	12	4	11	0	1	0	1	0	0	0	2	0	2	0	3	0	4	2	3	0	7	6	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.922G>T	p.Gly308Cys	p.G308C	ENST00000332644	8/10	71	50	21	92	92	0	strelka-varscan-mutect	TMPRSS11B,missense_variant,p.Gly308Cys,ENST00000332644,NM_182502.3;TMPRSS11B,non_coding_transcript_exon_variant,,ENST00000510856,;TMPRSS11B,downstream_gene_variant,,ENST00000502365,;	A	ENST00000332644	Transcript	missense_variant	1084/2671	922/1251	308/416	G/C	Ggt/Tgt		1		-1	TMPRSS11B	HGNC	HGNC:25398	protein_coding	YES	CCDS3521.1	ENSP00000330475	Q86T26		UPI000013E249	NM_182502.3	deleterious(0)		8/10		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF171,hmmpanther:PTHR24256,PIRSF_domain:PIRSF037941,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	68229281	68229281	C	A	1	0	0	0	0	1	0	0	0	16716	681	24	2		2	TMPRSS11B	4	68229281	Missense_Mutation	SNP	C	C3N-00217_TP	1317	68229281	121985274	160	12598											
UGT2B7	0	.	GRCh38	chr4	69098632	69098632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtttccatatccactcttaCcaaatgttgattttgttgga	10	17	6	8	0	1	1	0	1	1	0	3	2	3	2	3	1	1	3	3	1	3	7	rs544218603		C3N-00217_TP	C3N-00217_NB	C	C																c.814C>G	p.Pro272Ala	p.P272A	ENST00000305231	2/6	202	175	27	240	240	0	strelka-varscan-mutect	UGT2B7,missense_variant,p.Pro272Ala,ENST00000305231,NM_001074.2;UGT2B7,missense_variant,p.Pro272Ala,ENST00000508661,;UGT2B7,missense_variant,p.Pro272Ala,ENST00000622664,;UGT2B7,missense_variant,p.Pro23Ala,ENST00000502942,;UGT2B7,non_coding_transcript_exon_variant,,ENST00000509763,;	G	ENST00000305231	Transcript	missense_variant	860/1887	814/1590	272/529	P/A	Cca/Gca	rs544218603	1		1	UGT2B7	HGNC	HGNC:12554	protein_coding	YES	CCDS3526.1	ENSP00000304811	P16662		UPI00000015EC	NM_001074.2	deleterious(0)		2/6		hmmpanther:PTHR11926:SF382,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		rs544218603	.												G	3	3	43	69098632	69098632	C	G	1	0	0	0	0	1	0	0	0	17486	507	18	4		4	UGT2B7	4	69098632	Missense_Mutation	SNP	C	C3N-00217_TP	869351	69098632	121115923	161	12599											
UGT2B4	0	.	GRCh38	chr4	69495754	69495754	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggattgtctttatattcatCcagtggctgaattctgtggg	8	16	11	6	0	3	1	1	1	2	0	4	2	4	2	1	3	0	1	1	3	3	6			C3N-00217_TP	C3N-00217_NB	C	C																c.108G>A	p.Trp36Ter	p.W36*	ENST00000305107	1/6	120	88	32	119	119	0	strelka-varscan-mutect	UGT2B4,stop_gained,p.Trp36Ter,ENST00000305107,NM_021139.2;UGT2B4,stop_gained,p.Trp36Ter,ENST00000512583,NM_001297615.1;UGT2B4,stop_gained,p.Trp36Ter,ENST00000510114,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000506580,;UGT2B4,intron_variant,,ENST00000502655,;UGT2B4,intron_variant,,ENST00000503836,;	T	ENST00000305107	Transcript	stop_gained	155/2103	108/1587	36/528	W/*	tgG/tgA	COSM587866	1		-1	UGT2B4	HGNC	HGNC:12553	protein_coding	YES	CCDS43234.1	ENSP00000305221	P06133		UPI000000087F	NM_021139.2			1/6		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF198,Pfam_domain:PF00201,Superfamily_domains:SSF53756											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	43	69495754	69495754	C	T	1	0	0	0	0	0	1	0	0	17485	856	30	3		3	UGT2B4	4	69495754	Nonsense_Mutation	SNP	C	C3N-00217_TP	397122	69495754	120718801	162	12600											
CSN2	0	.	GRCh38	chr4	69957567	69957567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgagttttgggatttgagGgtcaaaaaagggtatcgttg	11	13	15	2	1	1	2	1	2	0	0	2	3	1	3	0	3	0	3	0	3	4	5			C3N-00217_TP	C3N-00217_NB	G	G																c.382C>A	p.Pro128Thr	p.P128T	ENST00000353151	5/7	363	266	97	381	380	1	strelka-varscan-mutect	CSN2,missense_variant,p.Pro128Thr,ENST00000353151,NM_001302770.1,NM_001891.3;	T	ENST00000353151	Transcript	missense_variant	394/1066	382/681	128/226	P/T	Cct/Act	COSM1540955	1		-1	CSN2	HGNC	HGNC:2447	protein_coding	YES	CCDS3532.1	ENSP00000341030	P05814	W5RWE1	UPI0000126FDB	NM_001302770.1,NM_001891.3	tolerated(0.24)		5/7		hmmpanther:PTHR11500:SF0,hmmpanther:PTHR11500,PIRSF_domain:PIRSF002372											1						MODERATE	1	SNV	1		1	1										PASS		rs1003669682	.												T	3	4	43	69957567	69957567	G	T	1	0	0	0	0	1	0	0	0	3748	1232	43	2		2	CSN2	4	69957567	Missense_Mutation	SNP	G	C3N-00217_TP	461813	69957567	120256988	163	12601											
NUP54	0	.	GRCh38	chr4	76144293	76144293	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtaccaccaaagagtcCtttgaatgaaaaattggaac	16	9	8	8	0	0	4	0	3	0	1	1	5	1	5	3	1	2	1	3	1	6	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.152-1G>A		p.X51_splice	ENST00000264883		122	84	38	140	140	0	strelka-varscan-mutect	NUP54,splice_acceptor_variant,,ENST00000264883,NM_017426.3;NUP54,splice_acceptor_variant,,ENST00000514901,;NUP54,intron_variant,,ENST00000514987,NM_001278603.1;NUP54,splice_acceptor_variant,,ENST00000515460,;NUP54,splice_acceptor_variant,,ENST00000514307,;NUP54,splice_acceptor_variant,,ENST00000506098,;NUP54,splice_acceptor_variant,,ENST00000508583,;NUP54,splice_acceptor_variant,,ENST00000510569,;NUP54,splice_acceptor_variant,,ENST00000510884,;NUP54,splice_acceptor_variant,,ENST00000507257,;NUP54,splice_acceptor_variant,,ENST00000502850,;NUP54,splice_acceptor_variant,,ENST00000512151,;NUP54,splice_acceptor_variant,,ENST00000513352,;NUP54,intron_variant,,ENST00000504173,;	T	ENST00000264883	Transcript	splice_acceptor_variant	-/2367	152/1524	51/507				1		-1	NUP54	HGNC	HGNC:17359	protein_coding	YES	CCDS3576.1	ENSP00000264883	Q7Z3B4		UPI0000036166	NM_017426.3				2/11																		HIGH	1	SNV	1			1										PASS		rs1180314955	.												T	5	4	43	76144293	76144293	C	T	1	0	0	0	0	0	0	1	0	10832	695	24	3		3	NUP54	4	76144293	Splice_Site	SNP	C	C3N-00217_TP	6186726	76144293	114070262	164	12602											
GK2	0	.	GRCh38	chr4	79407683	79407683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcaatggtaccaaaaagaGctctaccttcttcaacagcc	15	9	5	12	0	4	1	2	0	2	1	4	1	4	1	3	1	5	2	3	1	7	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.518C>A	p.Ala173Asp	p.A173D	ENST00000358842	1/1	196	146	50	247	247	0	strelka-varscan-mutect	GK2,missense_variant,p.Ala173Asp,ENST00000358842,NM_033214.2;	T	ENST00000358842	Transcript	missense_variant	611/1942	518/1662	173/553	A/D	gCt/gAt		1		-1	GK2	HGNC	HGNC:4291	protein_coding	YES	CCDS3585.1	ENSP00000351706	Q14410	A0A140VKG0	UPI000011E629	NM_033214.2	deleterious(0.01)		1/1		hmmpanther:PTHR10196:SF46,hmmpanther:PTHR10196,TIGRFAM_domain:TIGR01311,Pfam_domain:PF00370,Gene3D:3.30.420.40,PIRSF_domain:PIRSF000538,Superfamily_domains:SSF53067																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	43	79407683	79407683	G	T	1	0	0	0	0	1	0	0	0	6299	971	34	2		2	GK2	4	79407683	Missense_Mutation	SNP	G	C3N-00217_TP	3263390	79407683	110806872	165	12603											
HERC5	0	.	GRCh38	chr4	88494199	88494199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaaagatacttcttttttgGggttctatgtggactttccc	8	17	9	7	0	2	1	0	0	2	1	3	3	3	2	1	3	1	1	1	3	4	8	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.2312G>T	p.Gly771Val	p.G771V	ENST00000264350	18/23	162	100	62	165	163	2	strelka-varscan	HERC5,missense_variant,p.Gly771Val,ENST00000264350,NM_016323.3;HERC5,missense_variant,p.Gly409Val,ENST00000508159,;HERC5,non_coding_transcript_exon_variant,,ENST00000510223,;HERC5,non_coding_transcript_exon_variant,,ENST00000502913,;	T	ENST00000264350	Transcript	missense_variant	2465/3513	2312/3075	771/1024	G/V	gGg/gTg		1		1	HERC5	HGNC	HGNC:24368	protein_coding	YES	CCDS3630.1	ENSP00000264350	Q9UII4		UPI000013D500	NM_016323.3	deleterious(0)		18/23		Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF344,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	88494199	88494199	G	T	1	0	0	0	0	1	0	0	0	6945	1232	43	2		2	HERC5	4	88494199	Missense_Mutation	SNP	G	C3N-00217_TP	9086516	88494199	101720356	166	12604											
RP11-766F14.2	0	.	GRCh38	chr4	99652703	99652703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcggagagcgtggtggagGactcccgggagctgatgttc	6	9	17	9	3	0	2	0	1	0	1	3	6	1	5	1	5	2	2	1	5	0	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1946C>A	p.Ser649Tyr	p.S649Y	ENST00000511828	1/2	192	129	63	164	164	0	strelka-varscan-mutect	RP11-766F14.2,missense_variant,p.Ser649Tyr,ENST00000511828,;	T	ENST00000511828	Transcript	missense_variant	1946/10086	1946/5382	649/1793	S/Y	tCc/tAc		1		-1	RP11-766F14.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000427555		D6RIA3	UPI0001D3B6FE		deleterious(0)		1/2																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	99652703	99652703	G	T	1	0	0	0	0	1	0	0	0	13762	1174	41	2		2	RP11-766F14.2	4	99652703	Missense_Mutation	SNP	G	C3N-00217_TP	11158504	99652703	90561852	167	12605											
PPP3CA	0	.	GRCh38	chr4	101061147	101061147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagatgttgaggacatttaCcagcatctcagtcactaaag	13	10	9	9	0	2	2	2	1	1	1	3	3	2	3	1	1	2	3	1	1	3	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1096G>T	p.Val366Leu	p.V366L	ENST00000394854	10/14	159	119	40	271	271	0	strelka-varscan-mutect	PPP3CA,missense_variant,p.Val366Leu,ENST00000394854,NM_000944.4;PPP3CA,missense_variant,p.Val324Leu,ENST00000323055,NM_001130692.1;PPP3CA,missense_variant,p.Val134Leu,ENST00000512215,;PPP3CA,missense_variant,p.Val366Leu,ENST00000394853,NM_001130691.1;PPP3CA,missense_variant,p.Val268Leu,ENST00000507176,;	A	ENST00000394854	Transcript	missense_variant	1780/4685	1096/1566	366/521	V/L	Gta/Tta		1		-1	PPP3CA	HGNC	HGNC:9314	protein_coding	YES	CCDS34037.1	ENSP00000378323	Q08209	A0A0S2Z4C6	UPI0000110660	NM_000944.4	tolerated(0.23)		10/14		hmmpanther:PTHR11668:SF261,hmmpanther:PTHR11668,Gene3D:3.60.21.10,Superfamily_domains:SSF56300																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	101061147	101061147	C	A	1	0	0	0	0	1	0	0	0	12519	507	18	2		2	PPP3CA	4	101061147	Missense_Mutation	SNP	C	C3N-00217_TP	1408444	101061147	89153408	168	12606											
LARP7	0	.	GRCh38	chr4	112646955	112646955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcagcaaaagcaattgaGgtaagtccagatcctaaaaa	19	6	8	8	0	0	2	0	1	0	1	2	2	2	2	2	1	3	4	2	1	8	3	rs199621386		C3N-00217_TP	C3N-00217_NB	G	G																c.573G>T	p.Glu191Asp	p.E191D	ENST00000509061	7/15	69	46	23	96	96	0	strelka-mutect	LARP7,missense_variant,p.Glu191Asp,ENST00000509061,NM_001267039.1;LARP7,missense_variant,p.Glu184Asp,ENST00000344442,NM_016648.3;LARP7,missense_variant,p.Glu184Asp,ENST00000324052,NM_015454.2;LARP7,missense_variant,p.Glu184Asp,ENST00000505034,;LARP7,intron_variant,,ENST00000513553,;LARP7,upstream_gene_variant,,ENST00000511529,;LARP7,downstream_gene_variant,,ENST00000507443,;LARP7,downstream_gene_variant,,ENST00000508577,;MIR302B,downstream_gene_variant,,ENST00000362188,;MIR302A,downstream_gene_variant,,ENST00000385192,;MIR302C,downstream_gene_variant,,ENST00000362232,;MIR302D,downstream_gene_variant,,ENST00000362275,;MIR367,downstream_gene_variant,,ENST00000362299,;MIR302B,non_coding_transcript_exon_variant,,ENST00000510655,;MIR302B,non_coding_transcript_exon_variant,,ENST00000509938,;MIR302B,non_coding_transcript_exon_variant,,ENST00000505215,;LARP7,splice_region_variant,,ENST00000503316,;LARP7,splice_region_variant,,ENST00000509622,;LARP7,downstream_gene_variant,,ENST00000512589,;LARP7,downstream_gene_variant,,ENST00000505216,;	T	ENST00000509061	Transcript	missense_variant,splice_region_variant	876/2332	573/1770	191/589	E/D	gaG/gaT	rs199621386	1		1	LARP7	HGNC	HGNC:24912	protein_coding	YES	CCDS58924.1	ENSP00000422626	Q4G0J3		UPI000020B34C	NM_001267039.1	tolerated(0.06)		7/15		PROSITE_profiles:PS50102,hmmpanther:PTHR22792,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		rs199621386	.												T	3	4	43	112646955	112646955	G	T	1	0	0	0	0	1	0	0	0	8544	1014	35	2		2	LARP7	4	112646955	Missense_Mutation	SNP	G	C3N-00217_TP	11585808	112646955	77567600	169	12607											
KIAA1109	0	.	GRCh38	chr4	122349913	122349913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccaagtaatgatatcaaGgtcaaccacaccagatctga	15	10	6	10	0	3	3	2	2	1	1	4	3	4	3	3	1	1	1	3	1	5	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.13688G>A	p.Arg4563Lys	p.R4563K	ENST00000264501	80/86	209	159	50	249	249	0	strelka-varscan-mutect	KIAA1109,missense_variant,p.Arg4563Lys,ENST00000264501,;KIAA1109,missense_variant,p.Arg4563Lys,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Arg1232Lys,ENST00000438707,;KIAA1109,missense_variant,p.Arg939Lys,ENST00000306802,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000491933,;	A	ENST00000264501	Transcript	missense_variant	14061/15896	13688/15018	4563/5005	R/K	aGg/aAg		1		1	KIAA1109	HGNC	HGNC:26953	protein_coding	YES	CCDS43267.1	ENSP00000264501	Q2LD37		UPI0000DD87B4		tolerated(0.75)		80/86		hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640,Pfam_domain:PF10479,SMART_domains:SM01220																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	43	122349913	122349913	G	A	1	0	0	0	0	1	0	0	0	8101	1000	35	3		3	KIAA1109	4	122349913	Missense_Mutation	SNP	G	C3N-00217_TP	9702958	122349913	67864642	170	12608											
KIAA1109	0	.	GRCh38	chr4	122356725	122356725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgtttcttcatgatttaGtatcagcttatcttaaagaa	12	18	5	6	0	5	2	3	1	2	1	5	2	5	2	0	0	1	3	0	0	6	7	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.14605G>T	p.Val4869Leu	p.V4869L	ENST00000264501	84/86	169	116	53	178	176	2	strelka-varscan-mutect	KIAA1109,missense_variant,p.Val4869Leu,ENST00000264501,;KIAA1109,missense_variant,p.Val4869Leu,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Val1538Leu,ENST00000438707,;KIAA1109,missense_variant,p.Val1245Leu,ENST00000306802,;	T	ENST00000264501	Transcript	missense_variant	14978/15896	14605/15018	4869/5005	V/L	Gta/Tta		1		1	KIAA1109	HGNC	HGNC:26953	protein_coding	YES	CCDS43267.1	ENSP00000264501	Q2LD37		UPI0000DD87B4		deleterious(0.01)		84/86		hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640,Pfam_domain:PF10479,SMART_domains:SM01220																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	122356725	122356725	G	T	1	0	0	0	0	1	0	0	0	8101	1029	36	2		2	KIAA1109	4	122356725	Missense_Mutation	SNP	G	C3N-00217_TP	6812	122356725	67857830	171	12609											
FAT4	0	.	GRCh38	chr4	125319628	125319628	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttttaatggttgttgctTctgacagagcagtggaaccc	9	14	11	7	0	1	2	0	1	1	1	1	3	1	3	1	2	3	5	1	2	2	5	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.3217T>G	p.Ser1073Ala	p.S1073A	ENST00000394329	1/17	61	53	8	101	101	0	strelka-varscan-mutect	FAT4,missense_variant,p.Ser1073Ala,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;	G	ENST00000394329	Transcript	missense_variant	3230/16123	3217/14946	1073/4981	S/A	Tct/Gct		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	tolerated(0.33)		1/17		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	43	125319628	125319628	T	G	1	0	0	0	0	1	0	0	0	5552	1783	62	5		5	FAT4	4	125319628	Missense_Mutation	SNP	T	C3N-00217_TP	2962903	125319628	64894927	172	12610											
FAT4	0	.	GRCh38	chr4	125449109	125449109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaatggacaaggacagtgGacccaatggacagttagatt	14	7	13	7	0	0	1	0	0	0	1	0	5	0	5	1	5	0	2	1	5	4	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.8093G>T	p.Gly2698Val	p.G2698V	ENST00000394329	9/17	194	147	47	316	316	0	strelka-varscan-mutect	FAT4,missense_variant,p.Gly2698Val,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,missense_variant,p.Gly996Val,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;	T	ENST00000394329	Transcript	missense_variant	8106/16123	8093/14946	2698/4981	G/V	gGa/gTa		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	deleterious(0.01)		9/17		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	125449109	125449109	G	T	1	0	0	0	0	1	0	0	0	5552	1174	41	2		2	FAT4	4	125449109	Missense_Mutation	SNP	G	C3N-00217_TP	129481	125449109	64765446	173	12611											
FAT4	0	.	GRCh38	chr4	125449773	125449773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccaatcagaatatttcagGattaatgccaccactggaga	14	10	7	10	0	2	2	2	0	0	2	3	4	3	3	3	2	1	0	3	2	4	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.8757G>T	p.Arg2919Ser	p.R2919S	ENST00000394329	9/17	73	54	19	140	140	0	strelka-varscan-mutect	FAT4,missense_variant,p.Arg2919Ser,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,missense_variant,p.Arg1217Ser,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;	T	ENST00000394329	Transcript	missense_variant	8770/16123	8757/14946	2919/4981	R/S	agG/agT		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	tolerated(0.42)		9/17		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	125449773	125449773	G	T	1	0	0	0	0	1	0	0	0	5552	1165	41	2		2	FAT4	4	125449773	Missense_Mutation	SNP	G	C3N-00217_TP	664	125449773	64764782	174	12612											
PCDH18	0	.	GRCh38	chr4	137532083	137532083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcattttagcattcatttgGtgcattggtcagtttatgag	8	18	10	5	0	2	1	2	1	0	0	2	1	2	1	0	2	3	4	0	2	2	7	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.6C>A	p.His2Gln	p.H2Q	ENST00000344876	1/4	43	31	12	63	63	0	strelka-varscan-mutect	PCDH18,missense_variant,p.His2Gln,ENST00000344876,NM_019035.4;PCDH18,missense_variant,p.His2Gln,ENST00000412923,NM_001300828.1;PCDH18,intron_variant,,ENST00000507846,;PCDH18,intron_variant,,ENST00000510305,;PCDH18,intron_variant,,ENST00000511115,;PCDH18,intron_variant,,ENST00000611581,;PCDH18,upstream_gene_variant,,ENST00000620262,;PCDH18,upstream_gene_variant,,ENST00000617302,;	T	ENST00000344876	Transcript	missense_variant	393/5906	6/3408	2/1135	H/Q	caC/caA		1		-1	PCDH18	HGNC	HGNC:14268	protein_coding	YES	CCDS34064.1	ENSP00000355082	Q9HCL0		UPI0000047A88	NM_019035.4	tolerated_low_confidence(0.3)		1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	137532083	137532083	G	T	1	0	0	0	0	1	0	0	0	11600	1252	44	2		2	PCDH18	4	137532083	Missense_Mutation	SNP	G	C3N-00217_TP	12082310	137532083	52682472	175	12613											
FBXW7	0	.	GRCh38	chr4	152337912	152337912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgagttcatctaaagcaaGcaatttctctggtccactcc	12	12	6	11	0	3	1	1	1	2	0	6	1	5	1	2	1	2	3	2	1	5	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.751C>G	p.Leu251Val	p.L251V	ENST00000281708	5/12	109	93	16	132	132	0	strelka-varscan-mutect	FBXW7,missense_variant,p.Leu251Val,ENST00000281708,NM_033632.3;FBXW7,missense_variant,p.Leu171Val,ENST00000263981,NM_018315.4;FBXW7,missense_variant,p.Leu133Val,ENST00000296555,NM_001013415.1;FBXW7,missense_variant,p.Leu251Val,ENST00000603548,;FBXW7,missense_variant,p.Leu251Val,ENST00000603841,;FBXW7,missense_variant,p.Leu75Val,ENST00000393956,;DEAR,non_coding_transcript_exon_variant,,ENST00000605147,;	C	ENST00000281708	Transcript	missense_variant	1981/4976	751/2124	251/707	L/V	Ctt/Gtt		1		-1	FBXW7	HGNC	HGNC:16712	protein_coding	YES	CCDS3777.1	ENSP00000281708	Q969H0		UPI000007007E	NM_033632.3	tolerated(0.17)		5/12		hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF217																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	152337912	152337912	G	C	1	0	0	0	0	1	0	0	0	5632	971	34	4		4	FBXW7	4	152337912	Missense_Mutation	SNP	G	C3N-00217_TP	14805829	152337912	37876643	176	12614											
TRIM2	0	.	GRCh38	chr4	153315529	153315529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtttacaaatcttcaggggGtagctgcatctacaaatgga	13	11	10	7	0	3	0	1	0	2	0	3	1	3	1	0	3	4	4	0	3	5	5	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1555G>T	p.Val519Leu	p.V519L	ENST00000338700	7/12	116	77	39	128	128	0	strelka-varscan-mutect	TRIM2,missense_variant,p.Val519Leu,ENST00000338700,NM_015271.4;TRIM2,missense_variant,p.Val492Leu,ENST00000437508,NM_001130067.1;	T	ENST00000338700	Transcript	missense_variant	1620/6735	1555/2316	519/771	V/L	Gta/Tta		1		1	TRIM2	HGNC	HGNC:15974	protein_coding	YES	CCDS3781.2	ENSP00000339659	Q9C040		UPI00005A60C0	NM_015271.4	tolerated(0.15)		7/12		Gene3D:2.120.10.30,Pfam_domain:PF01436,PROSITE_profiles:PS51125,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF2,Superfamily_domains:SSF101898																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	153315529	153315529	G	T	1	0	0	0	0	1	0	0	0	16983	1261	44	2		2	TRIM2	4	153315529	Missense_Mutation	SNP	G	C3N-00217_TP	977617	153315529	36899026	177	12615											
MAP9	0	.	GRCh38	chr4	155347826	155347826	+	Missense_Mutation	SNP	G	G	A																															ttctgcttggagggctccacGgaggaagtgcctcactttca																								rs749611120		C3N-00217_TP	C3N-00217_NB	G	G																c.1901C>T	p.Pro634Leu	p.P634L	ENST00000311277	14/14	147	119	28	165	164	1	strelka-varscan-mutect	MAP9,missense_variant,p.Pro634Leu,ENST00000311277,NM_001039580.1;MAP9,missense_variant,p.Pro610Leu,ENST00000515654,;MAP9,downstream_gene_variant,,ENST00000503466,;AC097467.2,intron_variant,,ENST00000599555,;AC097467.2,intron_variant,,ENST00000608463,;AC097467.2,intron_variant,,ENST00000610249,;AC097467.2,intron_variant,,ENST00000593387,;AC097467.2,intron_variant,,ENST00000609716,;AC097467.2,intron_variant,,ENST00000595229,;AC097467.2,intron_variant,,ENST00000609486,;AC097467.2,intron_variant,,ENST00000598252,;AC097467.2,intron_variant,,ENST00000608544,;AC097467.2,intron_variant,,ENST00000609254,;AC097467.2,intron_variant,,ENST00000608092,;AC097467.2,intron_variant,,ENST00000597939,;AC097467.2,intron_variant,,ENST00000608406,;AC097467.2,intron_variant,,ENST00000601977,;AC097467.2,intron_variant,,ENST00000630664,;AC097467.2,intron_variant,,ENST00000608762,;AC097467.2,downstream_gene_variant,,ENST00000593486,;AC097467.2,downstream_gene_variant,,ENST00000595760,;AC097467.2,downstream_gene_variant,,ENST00000597955,;AC097467.2,downstream_gene_variant,,ENST00000512269,;MAP9,downstream_gene_variant,,ENST00000424373,;	A	ENST00000311277	Transcript	missense_variant	2165/7333	1901/1944	634/647	P/L	cCg/cTg	rs749611120,COSM3129531	1		-1	MAP9	HGNC	HGNC:26118	protein_coding	YES	CCDS35493.1	ENSP00000310593	Q49MG5		UPI000020B618	NM_001039580.1	deleterious(0)		14/14		hmmpanther:PTHR14739											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs749611120	.												A	3	1	43	155347826	155347826	G	A	1	0	0	0	0	1	0	0	0	9194	1116	39	1		1	MAP9	4	155347826	Missense_Mutation	SNP	G	C3N-00217_TP	2032297	155347826	34866729	178	12616	291	2									
MAP9	0	.	GRCh38	chr4	155347827	155347827	+	Missense_Mutation	SNP	G	G	A																															tctgcttggagggctccacgGaggaagtgcctcactttcaa																										C3N-00217_TP	C3N-00217_NB	G	G																c.1900C>T	p.Pro634Ser	p.P634S	ENST00000311277	14/14	147	119	28	165	165	0	strelka-varscan-mutect	MAP9,missense_variant,p.Pro634Ser,ENST00000311277,NM_001039580.1;MAP9,missense_variant,p.Pro610Ser,ENST00000515654,;MAP9,downstream_gene_variant,,ENST00000503466,;AC097467.2,intron_variant,,ENST00000599555,;AC097467.2,intron_variant,,ENST00000608463,;AC097467.2,intron_variant,,ENST00000610249,;AC097467.2,intron_variant,,ENST00000593387,;AC097467.2,intron_variant,,ENST00000609716,;AC097467.2,intron_variant,,ENST00000595229,;AC097467.2,intron_variant,,ENST00000609486,;AC097467.2,intron_variant,,ENST00000598252,;AC097467.2,intron_variant,,ENST00000608544,;AC097467.2,intron_variant,,ENST00000609254,;AC097467.2,intron_variant,,ENST00000608092,;AC097467.2,intron_variant,,ENST00000597939,;AC097467.2,intron_variant,,ENST00000608406,;AC097467.2,intron_variant,,ENST00000601977,;AC097467.2,intron_variant,,ENST00000630664,;AC097467.2,intron_variant,,ENST00000608762,;AC097467.2,downstream_gene_variant,,ENST00000593486,;AC097467.2,downstream_gene_variant,,ENST00000595760,;AC097467.2,downstream_gene_variant,,ENST00000597955,;AC097467.2,downstream_gene_variant,,ENST00000512269,;MAP9,downstream_gene_variant,,ENST00000424373,;	A	ENST00000311277	Transcript	missense_variant	2164/7333	1900/1944	634/647	P/S	Ccg/Tcg	COSM1719456	1		-1	MAP9	HGNC	HGNC:26118	protein_coding	YES	CCDS35493.1	ENSP00000310593	Q49MG5		UPI000020B618	NM_001039580.1	deleterious(0.03)		14/14		hmmpanther:PTHR14739											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	43	155347827	155347827	G	A	1	0	0	0	0	1	0	0	0	9194	1174	41	3		3	MAP9	4	155347827	Missense_Mutation	SNP	G	C3N-00217_TP	1	155347827	34866728	179	12617	291	2									
DDX60	0	.	GRCh38	chr4	168236345	168236345	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatactaatactagcttttcCataacgtcttgagaaaaatg	16	13	5	7	1	1	1	0	1	1	1	2	2	2	1	1	0	4	1	1	0	8	8	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.4440G>T	p.Met1480Ile	p.M1480I	ENST00000393743	33/38	94	66	28	132	132	0	strelka-varscan-mutect	DDX60,missense_variant,p.Met1480Ile,ENST00000393743,NM_017631.5;DDX60,upstream_gene_variant,,ENST00000511317,;DDX60,non_coding_transcript_exon_variant,,ENST00000507815,;	A	ENST00000393743	Transcript	missense_variant	4732/6071	4440/5139	1480/1712	M/I	atG/atT		1		-1	DDX60	HGNC	HGNC:25942	protein_coding	YES	CCDS34097.1	ENSP00000377344	Q8IY21		UPI000020B6AB	NM_017631.5	deleterious(0.02)		33/38																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	168236345	168236345	C	A	1	0	0	0	0	1	0	0	0	4181	594	21	2		2	DDX60	4	168236345	Missense_Mutation	SNP	C	C3N-00217_TP	12888518	168236345	21978210	180	12618											
STOX2	0	.	GRCh38	chr4	184009771	184009771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatccctcgggaagtagaGatggaaatcattaggcgcat	13	8	12	8	3	1	1	1	0	0	1	3	5	2	3	1	3	0	2	1	3	4	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.933G>T	p.Glu311Asp	p.E311D	ENST00000308497	3/4	287	209	78	274	274	0	strelka-varscan-mutect	STOX2,missense_variant,p.Glu311Asp,ENST00000308497,NM_020225.1;STOX2,upstream_gene_variant,,ENST00000506529,;RP11-739P1.3,upstream_gene_variant,,ENST00000636429,;STOX2,intron_variant,,ENST00000513034,;STOX2,downstream_gene_variant,,ENST00000512520,;	T	ENST00000308497	Transcript	missense_variant	2368/10458	933/2781	311/926	E/D	gaG/gaT		1		1	STOX2	HGNC	HGNC:25450	protein_coding	YES	CCDS47167.1	ENSP00000311257	Q9P2F5		UPI00001C1E11	NM_020225.1	deleterious(0)		3/4		hmmpanther:PTHR22437,hmmpanther:PTHR22437:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	184009771	184009771	G	T	1	0	0	0	0	1	0	0	0	15698	933	33	2		2	STOX2	4	184009771	Missense_Mutation	SNP	G	C3N-00217_TP	15773426	184009771	6204784	181	12619											
FAT1	0	.	GRCh38	chr4	186620073	186620073	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttattcatgacagtgatCggaacgataacttccgctga	11	12	9	9	3	1	3	1	3	0	0	3	5	2	4	1	1	2	2	1	1	3	5	rs372725093		C3N-00217_TP	C3N-00217_NB	C	C																c.6513G>T	p.=	p.P2171P	ENST00000441802	10/27	197	133	64	214	213	1	strelka-varscan-mutect	FAT1,synonymous_variant,p.=,ENST00000441802,NM_005245.3;FAT1,synonymous_variant,p.=,ENST00000614102,;	A	ENST00000441802	Transcript	synonymous_variant	6723/14786	6513/13767	2171/4588	P	ccG/ccT	rs372725093	1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3			10/27		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	5			1										PASS		rs372725093	.												A	2	1	43	186620073	186620073	C	A	1	0	0	0	0	0	0	0	1	5549	871	31	1		1	FAT1	4	186620073	Silent	SNP	C	C3N-00217_TP	2610302	186620073	3594482	182	12620											
IRX4	0	.	GRCh38	chr5	1878009	1878009	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccggccttgggcagggcgAgcagctccctggcggcgcct	3	5	17	16	5	0	0	0	0	0	0	1	1	1	0	4	5	2	3	4	5	0	1	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1598T>A	p.Leu533His	p.L533H	ENST00000613726	7/7	45	28	17	42	42	0	strelka-varscan-mutect	IRX4,missense_variant,p.Leu507His,ENST00000505790,NM_001278634.1;IRX4,missense_variant,p.Leu533His,ENST00000613726,NM_001278635.1;IRX4,missense_variant,p.Leu533His,ENST00000622814,NM_001278633.1;IRX4,missense_variant,p.Leu507His,ENST00000513692,NM_001278632.1;IRX4,missense_variant,p.Leu507His,ENST00000231357,NM_016358.2;IRX4,downstream_gene_variant,,ENST00000511126,;IRX4,downstream_gene_variant,,ENST00000505938,;IRX4,3_prime_UTR_variant,,ENST00000508261,;	T	ENST00000613726	Transcript	missense_variant	1821/2403	1598/1638	533/545	L/H	cTc/cAc		1		-1	IRX4	HGNC	HGNC:6129	protein_coding	YES	CCDS75225.1	ENSP00000482393	P78413		UPI000020BF08	NM_001278635.1	deleterious_low_confidence(0)		7/7		hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF16,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	1878009	1878009	A	T	1	0	0	0	0	1	0	0	0	7754	304	11	4		4	IRX4	5	1878009	Missense_Mutation	SNP	A	C3N-00217_TP		1878009	179660250	183	12621											
ADCY2	0	.	GRCh38	chr5	7709307	7709307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgacccggtacttggagTcctggggggcagccaagccc	7	6	15	13	1	0	1	0	1	0	0	1	2	1	2	4	5	3	3	4	5	2	2	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.1498T>C	p.Ser500Pro	p.S500P	ENST00000338316	10/25	193	159	34	159	159	0	strelka-varscan-mutect	ADCY2,missense_variant,p.Ser500Pro,ENST00000338316,NM_020546.2;RP11-711G10.1,intron_variant,,ENST00000514105,;	C	ENST00000338316	Transcript	missense_variant	1587/6575	1498/3276	500/1091	S/P	Tcc/Ccc		1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2	deleterious(0.01)		10/25		Pfam_domain:PF06327,PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	7709307	7709307	T	C	1	0	0	0	0	1	0	0	0	338	1667	58	5		5	ADCY2	5	7709307	Missense_Mutation	SNP	T	C3N-00217_TP	5831298	7709307	173828952	184	12622											
DNAH5	0	.	GRCh38	chr5	13866227	13866227	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaaagattacctgaaacAtgataagcctgtcactggct	15	10	7	9	0	1	3	1	2	0	1	1	3	1	3	2	1	3	1	2	1	6	3	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.4109T>C	p.Met1370Thr	p.M1370T	ENST00000265104	26/79	257	237	20	306	306	0	strelka-varscan-mutect	DNAH5,missense_variant,p.Met1370Thr,ENST00000265104,NM_001369.2;CTB-51A17.1,intron_variant,,ENST00000637153,;CTB-51A17.1,intron_variant,,ENST00000503244,;	G	ENST00000265104	Transcript	missense_variant	4214/15633	4109/13875	1370/4624	M/T	aTg/aCg		1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2	tolerated(0.12)		26/79		hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	13866227	13866227	A	G	1	0	0	0	0	1	0	0	0	4419	217	8	5		5	DNAH5	5	13866227	Missense_Mutation	SNP	A	C3N-00217_TP	6156920	13866227	167672032	185	12623											
CDH12	0	.	GRCh38	chr5	21842199	21842199	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgtcattgacatcggtgAgagtgatgttgactattgtt	9	16	12	4	1	1	4	1	4	0	1	2	6	1	4	0	1	0	2	0	1	1	6	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.776T>A	p.Leu259His	p.L259H	ENST00000382254	8/15	144	100	44	161	161	0	strelka-varscan-mutect	CDH12,missense_variant,p.Leu259His,ENST00000382254,NM_004061.3;CDH12,missense_variant,p.Leu259His,ENST00000504376,;CDH12,missense_variant,p.Leu219His,ENST00000522262,;CDH12,non_coding_transcript_exon_variant,,ENST00000521384,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;	T	ENST00000382254	Transcript	missense_variant	1863/4164	776/2385	259/794	L/H	cTc/cAc		1		-1	CDH12	HGNC	HGNC:1751	protein_coding	YES	CCDS3890.1	ENSP00000371689	P55289		UPI00000622EB	NM_004061.3	deleterious(0)		8/15		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF96,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	21842199	21842199	A	T	1	0	0	0	0	1	0	0	0	2801	304	11	4		4	CDH12	5	21842199	Missense_Mutation	SNP	A	C3N-00217_TP	7975972	21842199	159696060	186	12624											
PRDM9	0	.	GRCh38	chr5	23509938	23509938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcagagccactcgacCagctttcatgtgtcaccgaa	10	9	9	13	2	3	1	3	0	1	1	5	3	3	1	3	1	2	1	3	1	1	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.212C>T	p.Pro71Leu	p.P71L	ENST00000296682	4/11	349	251	98	327	327	0	strelka-varscan-mutect	PRDM9,missense_variant,p.Pro71Leu,ENST00000296682,NM_020227.2;PRDM9,missense_variant,p.Pro12Leu,ENST00000635252,;PRDM9,missense_variant,p.Pro71Leu,ENST00000502755,;	T	ENST00000296682	Transcript	missense_variant	394/3691	212/2685	71/894	P/L	cCa/cTa		1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	deleterious_low_confidence(0)		4/11		PROSITE_profiles:PS50806,SMART_domains:SM00349,Superfamily_domains:0044637																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	23509938	23509938	C	T	1	0	0	0	0	1	0	0	0	12595	594	21	3		3	PRDM9	5	23509938	Missense_Mutation	SNP	C	C3N-00217_TP	1667739	23509938	158028321	187	12625											
PRDM9	0	.	GRCh38	chr5	23526464	23526464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaagagatcaaagaaaGgtccaaactcttgaataaaa	20	7	8	6	0	3	3	2	1	1	2	4	4	4	3	1	2	1	0	1	2	7	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1376G>T	p.Arg459Met	p.R459M	ENST00000296682	11/11	425	295	130	448	448	0	strelka-varscan-mutect	PRDM9,missense_variant,p.Arg459Met,ENST00000296682,NM_020227.2;PRDM9,missense_variant,p.Arg400Met,ENST00000635252,;	T	ENST00000296682	Transcript	missense_variant	1558/3691	1376/2685	459/894	R/M	aGg/aTg		1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	tolerated(0.13)		11/11		hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10																	MODERATE	1	SNV	1			1										PASS		rs1327487744	.												T	3	4	43	23526464	23526464	G	T	1	0	0	0	0	1	0	0	0	12595	1000	35	2		2	PRDM9	5	23526464	Missense_Mutation	SNP	G	C3N-00217_TP	16526	23526464	158011795	188	12626											
RXFP3	0	.	GRCh38	chr5	33936896	33936896	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggacttgtggtgggagctGgggctggagttgccggacgg	4	8	21	8	3	0	0	0	0	0	0	0	4	0	4	2	8	2	3	2	8	0	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.156G>T	p.=	p.L52L	ENST00000330120	1/1	47	42	5	40	40	0	strelka-varscan-mutect	RXFP3,synonymous_variant,p.=,ENST00000330120,NM_016568.3;	T	ENST00000330120	Transcript	synonymous_variant	511/1852	156/1410	52/469	L	ctG/ctT		1		1	RXFP3	HGNC	HGNC:24883	protein_coding	YES	CCDS3900.1	ENSP00000328708	Q9NSD7		UPI0000046AEB	NM_016568.3			1/1																			LOW	1	SNV				1										PASS		.	.												T	2	4	43	33936896	33936896	G	T	1	0	0	0	0	0	0	0	1	14022	1335	47	2		2	RXFP3	5	33936896	Silent	SNP	G	C3N-00217_TP	10410432	33936896	147601363	189	12627											
DAB2	0	.	GRCh38	chr5	39390473	39390473	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttttatggcaaaaaactGatgctggccttctcctccac	9	13	8	11	0	1	1	0	1	1	0	3	1	2	1	3	3	2	3	3	3	4	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.433C>T	p.Gln145Ter	p.Q145*	ENST00000320816	5/15	196	131	65	174	174	0	strelka-varscan-mutect	DAB2,stop_gained,p.Gln145Ter,ENST00000545653,NM_001244871.1;DAB2,stop_gained,p.Gln145Ter,ENST00000320816,NM_001343.3;DAB2,stop_gained,p.Gln145Ter,ENST00000339788,;DAB2,stop_gained,p.Gln145Ter,ENST00000509337,;DAB2,downstream_gene_variant,,ENST00000515700,;DAB2,downstream_gene_variant,,ENST00000503513,;DAB2,downstream_gene_variant,,ENST00000511792,;DAB2,non_coding_transcript_exon_variant,,ENST00000512525,;C9,intron_variant,,ENST00000483232,;DAB2,downstream_gene_variant,,ENST00000513052,;DAB2,downstream_gene_variant,,ENST00000515269,;DAB2,3_prime_UTR_variant,,ENST00000507539,;DAB2,upstream_gene_variant,,ENST00000505968,;	A	ENST00000320816	Transcript	stop_gained	901/4534	433/2313	145/770	Q/*	Cag/Tag		1		-1	DAB2	HGNC	HGNC:2662	protein_coding	YES	CCDS34149.1	ENSP00000313391	P98082	A0A024R036	UPI0000169E27	NM_001343.3			5/15		Gene3D:2.30.29.30,Pfam_domain:PF00640,PROSITE_profiles:PS01179,hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF30,SMART_domains:SM00462,Superfamily_domains:SSF50729																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	43	39390473	39390473	G	A	1	0	0	0	0	0	1	0	0	4019	1299	45	3		3	DAB2	5	39390473	Nonsense_Mutation	SNP	G	C3N-00217_TP	5453577	39390473	142147786	190	12628											
C6	0	.	GRCh38	chr5	41161818	41161818	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atattcactccttccacctcGaatcagggatatggatttct	10	14	6	11	1	3	0	2	0	1	0	6	3	5	2	3	2	0	0	3	2	3	5	rs778044260		C3N-00217_TP	C3N-00217_NB	G	G																c.1333C>G	p.Arg445Gly	p.R445G	ENST00000263413	10/18	188	128	60	224	224	0	strelka-varscan-mutect	C6,missense_variant,p.Arg445Gly,ENST00000263413,NM_001115131.2;C6,missense_variant,p.Arg445Gly,ENST00000337836,NM_000065.3;C6,non_coding_transcript_exon_variant,,ENST00000475349,;C6,non_coding_transcript_exon_variant,,ENST00000473450,;C6,upstream_gene_variant,,ENST00000511470,;	C	ENST00000263413	Transcript	missense_variant	1598/3661	1333/2805	445/934	R/G	Cga/Gga	rs778044260,COSM1685973	1		-1	C6	HGNC	HGNC:1339	protein_coding	YES	CCDS3936.1	ENSP00000263413	P13671		UPI000013D401	NM_001115131.2	deleterious(0)		10/18		PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,Pfam_domain:PF01823,SMART_domains:SM00457											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs778044260	.												C	3	2	43	41161818	41161818	G	C	1	0	0	0	0	1	0	0	0	2111	1066	37	4		4	C6	5	41161818	Missense_Mutation	SNP	G	C3N-00217_TP	1771345	41161818	140376441	191	12629											
PLCXD3	0	.	GRCh38	chr5	41382106	41382106	+	Frame_Shift_Del	DEL	C	C	-																															caggtactttaaactaacttCctgggcaaaaatcgctgggc																										C3N-00217_TP	C3N-00217_NB	C	C																c.532delG	p.Glu178LysfsTer4	p.E178Kfs*4	ENST00000377801	2/3	214	141	73	266	266	0	sindel-varindel-pindel	PLCXD3,frameshift_variant,p.Glu178LysfsTer4,ENST00000377801,;PLCXD3,frameshift_variant,p.Glu178LysfsTer4,ENST00000328457,NM_001005473.2;	-	ENST00000377801	Transcript	frameshift_variant	607/7704	532/966	178/321	E/X	Gaa/aa	COSM3920107	1		-1	PLCXD3	HGNC	HGNC:31822	protein_coding	YES	CCDS34150.1	ENSP00000367032	Q63HM9		UPI0000049DBB				2/3		Gene3D:3.20.20.190,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33,SMART_domains:SM00148,Superfamily_domains:SSF51695											1						HIGH	1	deletion	2		1	1										PASS		.	.												-	7	5	43	41382106	41382106	C	-	1	0	1	0	1	0	0	0	0	12137	864	30	0		0	PLCXD3	5	41382106	Frame_Shift_Del	DEL	C	C3N-00217_TP	220288	41382106	140156153	192	12630											
MAP3K1	0	.	GRCh38	chr5	56859910	56859910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaaaagagtttccccaGtgcctgtaagttaatgttac	13	11	10	7	0	0	2	0	0	0	2	1	3	1	2	3	1	2	4	3	1	5	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.829G>A	p.Val277Met	p.V277M	ENST00000399503	3/20	392	275	117	397	397	0	strelka-varscan-mutect	MAP3K1,missense_variant,p.Val277Met,ENST00000399503,NM_005921.1;AC008937.2,non_coding_transcript_exon_variant,,ENST00000415589,;	A	ENST00000399503	Transcript	missense_variant	829/7011	829/4539	277/1512	V/M	Gtg/Atg		1		1	MAP3K1	HGNC	HGNC:6848	protein_coding	YES	CCDS43318.1	ENSP00000382423	Q13233		UPI000015153B	NM_005921.1	deleterious_low_confidence(0.05)		3/20																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	56859910	56859910	G	A	1	0	0	0	0	1	0	0	0	9165	1043	36	3		3	MAP3K1	5	56859910	Missense_Mutation	SNP	G	C3N-00217_TP	15477804	56859910	124678349	193	12631											
MAP1B	0	.	GRCh38	chr5	72198203	72198203	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagaatgcccaagaccGatgtcaatttctccaccaga	16	7	7	11	1	2	4	1	0	1	4	3	5	2	4	4	0	1	0	4	0	5	1	rs368998959		C3N-00217_TP	C3N-00217_NB	G	G																c.4848G>T	p.=	p.P1616P	ENST00000296755	5/7	183	152	31	215	215	0	strelka-varscan-mutect	MAP1B,synonymous_variant,p.=,ENST00000296755,NM_001324255.1,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;	T	ENST00000296755	Transcript	synonymous_variant	5146/12036	4848/7407	1616/2468	P	ccG/ccT	rs368998959	1		1	MAP1B	HGNC	HGNC:6836	protein_coding	YES	CCDS4012.1	ENSP00000296755	P46821		UPI000013E382	NM_001324255.1,NM_005909.3			5/7		hmmpanther:PTHR13843:SF5,hmmpanther:PTHR13843																	LOW	1	SNV	2			1										PASS		rs368998959	.												T	2	4	43	72198203	72198203	G	T	1	0	0	0	0	0	0	0	1	9151	1045	37	1		1	MAP1B	5	72198203	Silent	SNP	G	C3N-00217_TP	15338293	72198203	109340056	194	12632											
VCAN	0	.	GRCh38	chr5	83519383	83519383	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcgatttgagtatcctCgcagaaactgcatcacccag	12	9	7	13	2	1	2	1	1	0	1	4	3	2	2	3	0	2	3	3	0	2	2	rs746239661		C3N-00217_TP	C3N-00217_NB	C	C																c.1077C>A	p.=	p.L359L	ENST00000265077	7/15	118	86	32	123	123	0	strelka-varscan-mutect	VCAN,synonymous_variant,p.=,ENST00000265077,NM_004385.4;VCAN,synonymous_variant,p.=,ENST00000342785,NM_001164098.1;VCAN,synonymous_variant,p.=,ENST00000512590,;VCAN,intron_variant,,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,intron_variant,,ENST00000515397,;	A	ENST00000265077	Transcript	synonymous_variant	1642/12625	1077/10191	359/3396	L	ctC/ctA	rs746239661,COSM5269061	1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4			7/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6											0,1						LOW	1	SNV	1		0,1	1										PASS		rs746239661	.												A	2	1	43	83519383	83519383	C	A	1	0	0	0	0	0	0	0	1	17683	871	31	1		1	VCAN	5	83519383	Silent	SNP	C	C3N-00217_TP	11321180	83519383	98018876	195	12633											
GPR150	0	.	GRCh38	chr5	95620725	95620725	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctcgagcgccggcgcgcGgtgcgtcttccgcacggccg	2	5	16	18	10	1	0	0	0	1	0	3	1	2	0	4	3	2	1	4	3	0	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.450G>T	p.=	p.A150A	ENST00000380007	1/1	36	18	18	43	43	0	strelka-varscan-mutect	GPR150,synonymous_variant,p.=,ENST00000380007,NM_199243.1;	T	ENST00000380007	Transcript	synonymous_variant	648/2065	450/1305	150/434	A	gcG/gcT		1		1	GPR150	HGNC	HGNC:23628	protein_coding	YES	CCDS4074.1	ENSP00000369344	Q8NGU9	G4XH61	UPI000003BCD0	NM_199243.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF650,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	43	95620725	95620725	G	T	1	0	0	0	0	0	0	0	1	6542	1103	39	1		1	GPR150	5	95620725	Silent	SNP	G	C3N-00217_TP	12101342	95620725	85917534	196	12634											
SLCO4C1	0	.	GRCh38	chr5	102258039	102258039	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagtaattaaggcttctgAagaagttgatagaactaaac	17	11	9	4	0	1	4	0	2	1	2	1	4	1	4	0	1	2	4	0	1	9	7			C3N-00217_TP	C3N-00217_NB	A	A																c.1177T>G	p.Ser393Ala	p.S393A	ENST00000310954	7/13	102	68	34	108	108	0	strelka-varscan-mutect	SLCO4C1,missense_variant,p.Ser393Ala,ENST00000310954,NM_180991.4;	C	ENST00000310954	Transcript	missense_variant	1464/5334	1177/2175	393/724	S/A	Tca/Gca	COSM4568497	1		-1	SLCO4C1	HGNC	HGNC:23612	protein_coding	YES	CCDS34205.1	ENSP00000309741	Q6ZQN7		UPI00001C10B6	NM_180991.4	deleterious(0.04)		7/13		Gene3D:1.20.1250.20,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF103,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	43	102258039	102258039	A	C	1	0	0	0	0	1	0	0	0	15017	246	9	5		5	SLCO4C1	5	102258039	Missense_Mutation	SNP	A	C3N-00217_TP	6637314	102258039	79280220	197	12635											
SLCO6A1	0	.	GRCh38	chr5	102498485	102498485	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccgcctccttcaggctcAccttgacatatgagcaggat	11	9	8	13	1	2	2	2	2	0	0	3	3	3	3	4	2	2	2	4	2	2	3			C3N-00217_TP	C3N-00217_NB	A	A																c.358+2T>G		p.X120_splice	ENST00000506729		67	54	13	74	74	0	strelka-varscan-mutect	SLCO6A1,splice_donor_variant,,ENST00000506729,NM_001289002.1,NM_173488.4;SLCO6A1,splice_donor_variant,,ENST00000379807,;SLCO6A1,splice_donor_variant,,ENST00000389019,NM_001289004.1;SLCO6A1,splice_donor_variant,,ENST00000513675,NM_001308014.1;RP11-58B2.1,upstream_gene_variant,,ENST00000502494,;SLCO6A1,splice_donor_variant,,ENST00000514551,;SLCO6A1,splice_donor_variant,,ENST00000505407,;	C	ENST00000506729	Transcript	splice_donor_variant	-/2689	358/2160	120/719			COSM1059241	1		-1	SLCO6A1	HGNC	HGNC:23613	protein_coding	YES	CCDS34206.1	ENSP00000421339	Q86UG4	A0A140VJU7	UPI000020C392	NM_001289002.1,NM_173488.4				1/13												1						HIGH	1	SNV	1		1	1										PASS		.	.												C	5	2	43	102498485	102498485	A	C	1	0	0	0	0	0	0	1	0	15019	173	6	5		5	SLCO6A1	5	102498485	Splice_Site	SNP	A	C3N-00217_TP	240446	102498485	79039774	198	12636											
PRR16	0	.	GRCh38	chr5	120464612	120464612	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttggaattagtcctgggCgacctgaaggacgtggccaa	10	9	14	8	2	0	1	0	1	0	0	1	5	1	3	3	4	0	0	3	4	4	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.126C>A	p.=	p.G42G	ENST00000407149	1/2	119	80	39	117	117	0	strelka-varscan-mutect	PRR16,synonymous_variant,p.=,ENST00000407149,NM_001300783.1;PRR16,5_prime_UTR_variant,,ENST00000379551,NM_016644.2;PRR16,upstream_gene_variant,,ENST00000509923,;	A	ENST00000407149	Transcript	synonymous_variant	335/1747	126/915	42/304	G	ggC/ggA		1		1	PRR16	HGNC	HGNC:29654	protein_coding	YES	CCDS75290.1	ENSP00000385118	Q569H4		UPI00004F9C36	NM_001300783.1			1/2		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0																	LOW	1	SNV	1			1										PASS		rs1240670107	.												A	2	1	43	120464612	120464612	C	A	1	0	0	0	0	0	0	0	1	12725	755	27	1		1	PRR16	5	120464612	Silent	SNP	C	C3N-00217_TP	17966127	120464612	61073647	199	12637											
RAPGEF6	0	.	GRCh38	chr5	131455950	131455950	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcttgaagatgtttctcgTatttgcttggtaacttttcc	7	19	8	7	1	2	2	0	1	2	1	4	3	3	2	1	1	2	4	1	1	3	8			C3N-00217_TP	C3N-00217_NB	T	T																c.2927A>C	p.Tyr976Ser	p.Y976S	ENST00000296859	20/29	142	106	36	198	198	0	strelka-varscan-mutect	RAPGEF6,missense_variant,p.Tyr976Ser,ENST00000509018,NM_016340.5;CTC-432M15.3,missense_variant,p.Tyr1026Ser,ENST00000514667,;RAPGEF6,missense_variant,p.Tyr981Ser,ENST00000507093,NM_001164387.1;RAPGEF6,missense_variant,p.Tyr976Ser,ENST00000296859,NM_001164386.1;RAPGEF6,missense_variant,p.Tyr976Ser,ENST00000627212,NM_001164388.1;RAPGEF6,missense_variant,p.Tyr976Ser,ENST00000308008,NM_001164389.1;RAPGEF6,missense_variant,p.Tyr691Ser,ENST00000512052,;RAPGEF6,missense_variant,p.Tyr976Ser,ENST00000515170,;	G	ENST00000296859	Transcript	missense_variant	3008/5618	2927/4830	976/1609	Y/S	tAc/tCc	COSM4141406,COSM4141407,COSM4141408,COSM4141409	1		-1	RAPGEF6	HGNC	HGNC:20655	protein_coding	YES	CCDS54900.1	ENSP00000296859	Q8TEU7		UPI000189A836	NM_001164386.1	deleterious(0)		20/29		Superfamily_domains:0041591,Gene3D:2ii0A02,Pfam_domain:PF00617,PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF222,SMART_domains:SM00147											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												G	3	3	43	131455950	131455950	T	G	1	0	0	0	0	1	0	0	0	13207	1638	57	5		5	RAPGEF6	5	131455950	Missense_Mutation	SNP	T	C3N-00217_TP	10991338	131455950	50082309	200	12638											
RAPGEF6	0	.	GRCh38	chr5	131508200	131508200	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggtgcataaactccagCaattgttctataagaaaaca	16	10	7	8	0	1	1	0	0	1	1	2	1	2	1	1	1	5	4	1	1	7	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.813G>T	p.Leu271Phe	p.L271F	ENST00000296859	9/29	118	78	40	127	127	0	strelka-varscan-mutect	RAPGEF6,missense_variant,p.Leu271Phe,ENST00000509018,NM_016340.5;CTC-432M15.3,missense_variant,p.Leu321Phe,ENST00000514667,;RAPGEF6,missense_variant,p.Leu271Phe,ENST00000507093,NM_001164387.1;RAPGEF6,missense_variant,p.Leu271Phe,ENST00000296859,NM_001164386.1;RAPGEF6,missense_variant,p.Leu271Phe,ENST00000627212,NM_001164388.1;RAPGEF6,missense_variant,p.Leu271Phe,ENST00000308008,NM_001164389.1;RAPGEF6,missense_variant,p.Leu271Phe,ENST00000510071,NM_001164390.1;RAPGEF6,missense_variant,p.Leu99Phe,ENST00000513227,;RAPGEF6,missense_variant,p.Leu124Phe,ENST00000504575,;RAPGEF6,missense_variant,p.Leu124Phe,ENST00000504039,;RAPGEF6,upstream_gene_variant,,ENST00000512052,;RAPGEF6,missense_variant,p.Leu271Phe,ENST00000515170,;RAPGEF6,non_coding_transcript_exon_variant,,ENST00000514179,;	A	ENST00000296859	Transcript	missense_variant	894/5618	813/4830	271/1609	L/F	ttG/ttT		1		-1	RAPGEF6	HGNC	HGNC:20655	protein_coding	YES	CCDS54900.1	ENSP00000296859	Q8TEU7		UPI000189A836	NM_001164386.1	deleterious(0)		9/29		Gene3D:2.60.120.10,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF222,Superfamily_domains:SSF51206																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	131508200	131508200	C	A	1	0	0	0	0	1	0	0	0	13207	709	25	2		2	RAPGEF6	5	131508200	Missense_Mutation	SNP	C	C3N-00217_TP	52250	131508200	50030059	201	12639											
PCDHA3	0	.	GRCh38	chr5	140802051	140802051	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattctttcaatacggacaTgtcagcagatattctgtcaa	12	14	7	8	1	5	1	3	0	2	1	5	2	5	2	0	1	2	2	0	1	5	6	rs781808156		C3N-00217_TP	C3N-00217_NB	T	T																c.854T>G	p.Met285Arg	p.M285R	ENST00000522353	1/4	245	223	22	255	255	0	strelka-varscan-mutect	PCDHA3,missense_variant,p.Met285Arg,ENST00000522353,NM_018906.2;PCDHA3,missense_variant,p.Met285Arg,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA4,upstream_gene_variant,,ENST00000618834,NM_031500.2;PCDHA2,downstream_gene_variant,,ENST00000378132,NM_031495.1;PCDHA4,upstream_gene_variant,,ENST00000378125,;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,upstream_gene_variant,,ENST00000624176,;	G	ENST00000522353	Transcript	missense_variant	854/5260	854/2853	285/950	M/R	aTg/aGg	rs781808156	1		1	PCDHA3	HGNC	HGNC:8669	protein_coding	YES	CCDS54915.1	ENSP00000429808	Q9Y5H8		UPI00001273CB	NM_018906.2	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs781808156	.												G	3	3	43	140802051	140802051	T	G	1	0	0	0	0	1	0	0	0	11612	1464	51	5		5	PCDHA3	5	140802051	Missense_Mutation	SNP	T	C3N-00217_TP	9293851	140802051	40736208	202	12640											
PCDHA5	0	.	GRCh38	chr5	140823383	140823383	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagttccaggtgagcgcGcgcgacgcgggcgtgccgcc	4	5	17	15	8	0	1	0	1	0	0	1	2	1	1	3	2	3	2	3	2	0	1	rs201301158		C3N-00217_TP	C3N-00217_NB	G	G																c.1608G>T	p.=	p.A536A	ENST00000529859	1/4	758	514	244	572	571	1	strelka-varscan-mutect	PCDHA5,synonymous_variant,p.=,ENST00000529859,NM_018908.2;PCDHA5,synonymous_variant,p.=,ENST00000614258,NM_031501.1;PCDHA5,synonymous_variant,p.=,ENST00000529619,;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA4,intron_variant,,ENST00000512229,;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA6,upstream_gene_variant,,ENST00000529310,NM_018909.3;PCDHA6,upstream_gene_variant,,ENST00000378126,NM_031848.2;PCDHA6,upstream_gene_variant,,ENST00000527624,NM_031849.2;AC005609.16,upstream_gene_variant,,ENST00000624712,;	T	ENST00000529859	Transcript	synonymous_variant	1608/5218	1608/2811	536/936	A	gcG/gcT	rs201301158,COSM1433821,COSM1433822,COSM3409821	1		1	PCDHA5	HGNC	HGNC:8671	protein_coding	YES	CCDS54917.1	ENSP00000436557	Q9Y5H7		UPI00001273CD	NM_018908.2			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs201301158	.												T	2	4	43	140823383	140823383	G	T	1	0	0	0	0	0	0	0	1	11614	1074	38	1		1	PCDHA5	5	140823383	Silent	SNP	G	C3N-00217_TP	21332	140823383	40714876	203	12641											
PCDHA7	0	.	GRCh38	chr5	140835461	140835461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccctgtctctccctattCcagaggacgcccaaccaggt	7	10	7	17	1	1	1	0	0	1	1	5	2	4	2	5	2	1	0	5	2	2	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1078C>A	p.Pro360Thr	p.P360T	ENST00000525929	1/4	229	160	69	282	282	0	strelka-varscan-mutect	PCDHA7,missense_variant,p.Pro360Thr,ENST00000525929,NM_018910.2;PCDHA7,missense_variant,p.Pro360Thr,ENST00000356878,NM_031852.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA6,downstream_gene_variant,,ENST00000378126,NM_031848.2;	A	ENST00000525929	Transcript	missense_variant	1078/5221	1078/2814	360/937	P/T	Cca/Aca		1		1	PCDHA7	HGNC	HGNC:8673	protein_coding	YES	CCDS54918.1	ENSP00000436426	Q9UN72		UPI00001273CF	NM_018910.2	tolerated_low_confidence(0.07)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	140835461	140835461	C	A	1	0	0	0	0	1	0	0	0	11616	855	30	2		2	PCDHA7	5	140835461	Missense_Mutation	SNP	C	C3N-00217_TP	12078	140835461	40702798	204	12642			1	11		3	3	526	N	G_C	6.63723e-05
PCDHA7	0	.	GRCh38	chr5	140835626	140835626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacagcgctctggacCgcgagagtgtgtccgcctat	6	9	14	12	4	1	1	0	0	1	1	2	4	2	3	3	2	2	2	3	2	1	1	rs782043218		C3N-00217_TP	C3N-00217_NB	C	C																c.1243C>A	p.Arg415Ser	p.R415S	ENST00000525929	1/4	406	278	128	360	359	1	strelka-varscan-mutect	PCDHA7,missense_variant,p.Arg415Ser,ENST00000525929,NM_018910.2;PCDHA7,missense_variant,p.Arg415Ser,ENST00000356878,NM_031852.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA6,downstream_gene_variant,,ENST00000378126,NM_031848.2;	A	ENST00000525929	Transcript	missense_variant	1243/5221	1243/2814	415/937	R/S	Cgc/Agc	rs782043218,COSM1433875,COSM1433876	1		1	PCDHA7	HGNC	HGNC:8673	protein_coding	YES	CCDS54918.1	ENSP00000436426	Q9UN72		UPI00001273CF	NM_018910.2	deleterious_low_confidence(0.01)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs782043218	.												A	3	1	43	140835626	140835626	C	A	1	0	0	0	0	1	0	0	0	11616	652	23	1		1	PCDHA7	5	140835626	Missense_Mutation	SNP	C	C3N-00217_TP	165	140835626	40702633	205	12643			1	11		3	3	526	N	G_C	6.63723e-05
PCDHA7	0	.	GRCh38	chr5	140835986	140835986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagctgttgcagttccagGtgagcgcgcgcgatgcgggc	5	8	18	10	5	0	1	0	1	0	0	1	3	1	2	1	3	4	4	1	3	0	2			C3N-00217_TP	C3N-00217_NB	G	G																c.1603G>C	p.Val535Leu	p.V535L	ENST00000525929	1/4	825	582	243	631	631	0	strelka-varscan-mutect	PCDHA7,missense_variant,p.Val535Leu,ENST00000525929,NM_018910.2;PCDHA7,missense_variant,p.Val535Leu,ENST00000356878,NM_031852.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA6,downstream_gene_variant,,ENST00000378126,NM_031848.2;	C	ENST00000525929	Transcript	missense_variant	1603/5221	1603/2814	535/937	V/L	Gtg/Ctg	COSM5242636,COSM5242637	1		1	PCDHA7	HGNC	HGNC:8673	protein_coding	YES	CCDS54918.1	ENSP00000436426	Q9UN72		UPI00001273CF	NM_018910.2	deleterious_low_confidence(0.03)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	43	140835986	140835986	G	C	1	0	0	0	0	1	0	0	0	11616	1261	44	4		4	PCDHA7	5	140835986	Missense_Mutation	SNP	G	C3N-00217_TP	360	140835986	40702273	206	12644			1	11		3	3	526	N	G_C	6.63723e-05
PCDHB9	0	.	GRCh38	chr5	141189238	141189238	+	Silent	SNP	G	G	T																															gacgcggccaagcacaggctGgtggtgcttgtcaaggacaa																								rs17844594		C3N-00217_TP	C3N-00217_NB	G	G																c.1920G>T	p.=	p.L640L	ENST00000316105	1/1	585	545	40	471	471	0	varscan-mutect	PCDHB9,synonymous_variant,p.=,ENST00000316105,NM_019119.4;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.3;PCDHB16,downstream_gene_variant,,ENST00000625044,;PCDHB9,downstream_gene_variant,,ENST00000624909,;CH17-140K24.5,downstream_gene_variant,,ENST00000623884,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,upstream_gene_variant,,ENST00000624089,;CH17-140K24.6,downstream_gene_variant,,ENST00000625144,;PCDHB9,downstream_gene_variant,,ENST00000623266,;CH17-140K24.5,downstream_gene_variant,,ENST00000623407,;	T	ENST00000316105	Transcript	synonymous_variant	2112/4415	1920/2394	640/797	L	ctG/ctT	rs17844594	1		1	PCDHB9	HGNC	HGNC:8694	protein_coding	YES	CCDS75328.1	ENSP00000478606	Q9Y5E1		UPI00005764A0	NM_019119.4			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF128,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW		SNV				1										PASS		rs17844594	.												T	2	4	43	141189238	141189238	G	T	1	0	0	0	0	0	0	0	1	11636	1335	47	2		2	PCDHB9	5	141189238	Silent	SNP	G	C3N-00217_TP	353252	141189238	40349021	207	12645	292	2									
PCDHB9	0	.	GRCh38	chr5	141189239	141189239	+	Missense_Mutation	SNP	G	G	T																															acgcggccaagcacaggctgGtggtgcttgtcaaggacaat																								rs782070601		C3N-00217_TP	C3N-00217_NB	G	G																c.1921G>T	p.Val641Leu	p.V641L	ENST00000316105	1/1	590	547	43	467	467	0	varscan-mutect	PCDHB9,missense_variant,p.Val641Leu,ENST00000316105,NM_019119.4;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.3;PCDHB16,downstream_gene_variant,,ENST00000625044,;PCDHB9,downstream_gene_variant,,ENST00000624909,;CH17-140K24.5,downstream_gene_variant,,ENST00000623884,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,upstream_gene_variant,,ENST00000624089,;CH17-140K24.6,downstream_gene_variant,,ENST00000625144,;PCDHB9,downstream_gene_variant,,ENST00000623266,;CH17-140K24.5,downstream_gene_variant,,ENST00000623407,;	T	ENST00000316105	Transcript	missense_variant	2113/4415	1921/2394	641/797	V/L	Gtg/Ttg	rs782070601	1		1	PCDHB9	HGNC	HGNC:8694	protein_coding	YES	CCDS75328.1	ENSP00000478606	Q9Y5E1		UPI00005764A0	NM_019119.4	tolerated_low_confidence(1)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF128,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		rs782070601	.												T	3	4	43	141189239	141189239	G	T	1	0	0	0	0	1	0	0	0	11636	1261	44	2		2	PCDHB9	5	141189239	Missense_Mutation	SNP	G	C3N-00217_TP	1	141189239	40349020	208	12646	292	2									
PCDHB10	0	.	GRCh38	chr5	141194473	141194473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcagccaagcacaggctcGtggtgcttgtcaaggacaat	11	7	12	11	2	1	0	1	0	0	0	2	1	1	1	1	3	3	4	1	3	3	1	rs782602590		C3N-00217_TP	C3N-00217_NB	G	G																c.1921G>T	p.Val641Leu	p.V641L	ENST00000239446	1/1	427	360	67	289	289	0	strelka-varscan-mutect	PCDHB10,missense_variant,p.Val641Leu,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,NM_019119.4;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.6,upstream_gene_variant,,ENST00000625144,;	T	ENST00000239446	Transcript	missense_variant	2121/3290	1921/2403	641/800	V/L	Gtg/Ttg	rs782602590	1		1	PCDHB10	HGNC	HGNC:8681	protein_coding	YES	CCDS4252.1	ENSP00000239446	Q9UN67		UPI0000048F2E	NM_018930.3	tolerated_low_confidence(1)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF54,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		rs782602590	.												T	3	4	43	141194473	141194473	G	T	1	0	0	0	0	1	0	0	0	11622	1145	40	1		1	PCDHB10	5	141194473	Missense_Mutation	SNP	G	C3N-00217_TP	5234	141194473	40343786	209	12647											
PCDHB11	0	.	GRCh38	chr5	141199849	141199849	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttttgctcggaatgtctcaGgcgggctctgaaacctggag	7	11	14	9	2	2	1	1	1	2	0	4	3	2	3	1	4	2	3	1	4	2	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.75G>T	p.Gln25His	p.Q25H	ENST00000354757	1/1	258	165	93	234	233	1	strelka-varscan-mutect	PCDHB11,missense_variant,p.Gln25His,ENST00000354757,NM_018931.2;PCDHB11,intron_variant,,ENST00000624887,;PCDHB10,downstream_gene_variant,,ENST00000239446,NM_018930.3;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;	T	ENST00000354757	Transcript	missense_variant	268/4198	75/2394	25/797	Q/H	caG/caT		1		1	PCDHB11	HGNC	HGNC:8682	protein_coding	YES	CCDS4253.1	ENSP00000346802	Q9Y5F2		UPI00001273E6	NM_018931.2	tolerated_low_confidence(0.51)		1/1		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF91,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE		SNV				1										PASS		.	.												T	3	4	43	141199849	141199849	G	T	1	0	0	0	0	1	0	0	0	11623	991	35	2		2	PCDHB11	5	141199849	Missense_Mutation	SNP	G	C3N-00217_TP	5376	141199849	40338410	210	12648											
PCDHB13	0	.	GRCh38	chr5	141214277	141214277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcaccaatttagcaaagGacctgggtctggagcagagg	11	9	13	8	0	2	1	1	0	1	1	2	3	2	3	2	4	2	2	2	4	3	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.154G>T	p.Asp52Tyr	p.D52Y	ENST00000341948	1/1	82	57	25	98	98	0	strelka-varscan-mutect	PCDHB13,missense_variant,p.Asp52Tyr,ENST00000341948,NM_018933.3;PCDHB12,downstream_gene_variant,,ENST00000239450,NM_018932.3;PCDHB12,downstream_gene_variant,,ENST00000622978,;PCDHB12,downstream_gene_variant,,ENST00000624949,;CH17-140K24.2,intron_variant,,ENST00000624192,;	T	ENST00000341948	Transcript	missense_variant	359/5061	154/2397	52/798	D/Y	Gac/Tac		1		1	PCDHB13	HGNC	HGNC:8684	protein_coding	YES	CCDS4255.1	ENSP00000345491	Q9Y5F0		UPI0000047816	NM_018933.3	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF129,Pfam_domain:PF08266,SMART_domains:SM00112																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	43	141214277	141214277	G	T	1	0	0	0	0	1	0	0	0	11625	1174	41	2		2	PCDHB13	5	141214277	Missense_Mutation	SNP	G	C3N-00217_TP	14428	141214277	40323982	211	12649											
PCDHGA1	0	.	GRCh38	chr5	141331908	141331908	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgtttagtgactgaaagAacactggacagagaacttat	15	10	9	7	1	0	4	0	2	0	2	0	6	0	5	1	1	3	1	1	1	6	4	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1224A>G	p.=	p.R408R	ENST00000517417	1/4	257	210	47	302	302	0	strelka-varscan-mutect	PCDHGA1,synonymous_variant,p.=,ENST00000517417,NM_018912.2;PCDHGA1,synonymous_variant,p.=,ENST00000378105,NM_031993.1;AC005618.6,downstream_gene_variant,,ENST00000606901,;AC005618.6,downstream_gene_variant,,ENST00000606674,;	G	ENST00000517417	Transcript	synonymous_variant	1224/4604	1224/2796	408/931	R	agA/agG		1		1	PCDHGA1	HGNC	HGNC:8696	protein_coding	YES	CCDS54922.1	ENSP00000431083	Q9Y5H4		UPI0000070596	NM_018912.2			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF108,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	43	141331908	141331908	A	G	1	0	0	0	0	0	0	0	1	11637	243	9	5		5	PCDHGA1	5	141331908	Silent	SNP	A	C3N-00217_TP	117631	141331908	40206351	212	12650											
PCDHGA2	0	.	GRCh38	chr5	141339453	141339453	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaatgcgcatgatgcagAcgtaggtgagaacgcccttc	12	8	12	9	3	0	4	0	2	0	3	1	5	0	4	1	1	3	3	1	1	4	3	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.482A>T	p.Asp161Val	p.D161V	ENST00000394576	1/4	263	184	79	222	222	0	strelka-varscan-mutect	PCDHGA2,missense_variant,p.Asp161Val,ENST00000394576,NM_018915.3;PCDHGA2,missense_variant,p.Asp161Val,ENST00000528330,NM_032009.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3;PCDHGA1,downstream_gene_variant,,ENST00000378105,NM_031993.1;PCDHGA3,upstream_gene_variant,,ENST00000619750,NM_032011.1;PCDHGA3,upstream_gene_variant,,ENST00000612467,;	T	ENST00000394576	Transcript	missense_variant	482/4605	482/2799	161/932	D/V	gAc/gTc		1		1	PCDHGA2	HGNC	HGNC:8700	protein_coding	YES	CCDS47289.1	ENSP00000378077	Q9Y5H1		UPI0000072E67	NM_018915.3	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF134,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	141339453	141339453	A	T	1	0	0	0	0	1	0	0	0	11641	275	10	4		4	PCDHGA2	5	141339453	Missense_Mutation	SNP	A	C3N-00217_TP	7545	141339453	40198806	213	12651											
PCDHGA2	0	.	GRCh38	chr5	141339546	141339546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgatgggaacaagtaccCagaactggtgctggagcgct	11	7	14	9	1	0	2	0	1	0	1	0	4	0	4	1	3	6	4	1	3	4	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.575C>A	p.Pro192Gln	p.P192Q	ENST00000394576	1/4	167	118	49	138	138	0	strelka-varscan-mutect	PCDHGA2,missense_variant,p.Pro192Gln,ENST00000394576,NM_018915.3;PCDHGA2,missense_variant,p.Pro192Gln,ENST00000528330,NM_032009.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3;PCDHGA1,downstream_gene_variant,,ENST00000378105,NM_031993.1;PCDHGA3,upstream_gene_variant,,ENST00000619750,NM_032011.1;PCDHGA3,upstream_gene_variant,,ENST00000612467,;	A	ENST00000394576	Transcript	missense_variant	575/4605	575/2799	192/932	P/Q	cCa/cAa		1		1	PCDHGA2	HGNC	HGNC:8700	protein_coding	YES	CCDS47289.1	ENSP00000378077	Q9Y5H1		UPI0000072E67	NM_018915.3	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF134,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	141339546	141339546	C	A	1	0	0	0	0	1	0	0	0	11641	594	21	2		2	PCDHGA2	5	141339546	Missense_Mutation	SNP	C	C3N-00217_TP	93	141339546	40198713	214	12652											
PCDH12	0	.	GRCh38	chr5	141955075	141955075	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggatctgacggggccctGattctttctcaggggacact	7	10	13	11	1	3	2	1	2	3	0	4	4	3	4	1	5	0	1	1	5	0	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.2777C>G	p.Ser926Ter	p.S926*	ENST00000231484	1/4	312	233	79	237	237	0	strelka-varscan-mutect	PCDH12,stop_gained,p.Ser926Ter,ENST00000231484,NM_016580.3;RNF14,upstream_gene_variant,,ENST00000511961,;RNF14,upstream_gene_variant,,ENST00000506822,;PCDH12,downstream_gene_variant,,ENST00000510041,;AC005740.6,downstream_gene_variant,,ENST00000607378,;PCDH12,downstream_gene_variant,,ENST00000512221,;	C	ENST00000231484	Transcript	stop_gained	3988/6562	2777/3555	926/1184	S/*	tCa/tGa		1		-1	PCDH12	HGNC	HGNC:8657	protein_coding	YES	CCDS4269.1	ENSP00000231484	Q9NPG4		UPI00001313B4	NM_016580.3			1/4		hmmpanther:PTHR24028:SF42,hmmpanther:PTHR24028																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	43	141955075	141955075	G	C	1	0	0	0	0	0	1	0	0	11597	1294	45	4		4	PCDH12	5	141955075	Nonsense_Mutation	SNP	G	C3N-00217_TP	615529	141955075	39583184	215	12653											
JAKMIP2	0	.	GRCh38	chr5	147660956	147660956	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgtactaaccagcctccGaatatcccgctccgactccc	9	9	5	18	3	0	0	0	0	0	0	4	2	4	0	6	0	4	2	6	0	5	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.619C>A	p.=	p.R207R	ENST00000616793	3/22	121	81	40	119	119	0	strelka-varscan-mutect	JAKMIP2,synonymous_variant,p.=,ENST00000616793,NM_001270941.1;JAKMIP2,synonymous_variant,p.=,ENST00000265272,NM_014790.4;JAKMIP2,synonymous_variant,p.=,ENST00000507386,NM_001270934.1;JAKMIP2,synonymous_variant,p.=,ENST00000333010,NM_001282282.1;JAKMIP2-AS1,non_coding_transcript_exon_variant,,ENST00000626945,;JAKMIP2-AS1,downstream_gene_variant,,ENST00000627433,;JAKMIP2-AS1,downstream_gene_variant,,ENST00000630514,;JAKMIP2-AS1,downstream_gene_variant,,ENST00000630801,;JAKMIP2,non_coding_transcript_exon_variant,,ENST00000507343,;	T	ENST00000616793	Transcript	synonymous_variant	1160/9272	619/2463	207/820	R	Cgg/Agg		1		-1	JAKMIP2	HGNC	HGNC:29067	protein_coding	YES	CCDS75352.1	ENSP00000479248	Q96AA8		UPI0000E5AC9B	NM_001270941.1			3/22		hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF7																	LOW		SNV	5			1										PASS		.	.												T	2	4	43	147660956	147660956	G	T	1	0	0	0	0	0	0	0	1	7854	1057	37	1		1	JAKMIP2	5	147660956	Silent	SNP	G	C3N-00217_TP	5705881	147660956	33877303	216	12654											
HTR4	0	.	GRCh38	chr5	148509955	148509955	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacagagcaggtgatggCgtagggcttgttgaccatga	10	8	14	9	1	0	4	0	3	0	1	0	4	0	4	2	3	1	4	2	3	1	3	rs751138733		C3N-00217_TP	C3N-00217_NB	C	C																c.577G>C	p.Ala193Pro	p.A193P	ENST00000360693	6/8	212	153	59	178	178	0	strelka-varscan-mutect	HTR4,missense_variant,p.Ala193Pro,ENST00000360693,;HTR4,missense_variant,p.Ala193Pro,ENST00000362016,NM_001040173.2;HTR4,missense_variant,p.Ala193Pro,ENST00000377888,NM_000870.6;HTR4,missense_variant,p.Ala193Pro,ENST00000521530,NM_001040169.2;HTR4,missense_variant,p.Ala193Pro,ENST00000521735,NM_199453.3;HTR4,missense_variant,p.Ala193Pro,ENST00000520514,NM_001286410.1;HTR4,missense_variant,p.Ala193Pro,ENST00000631296,;HTR4,missense_variant,p.Ala193Pro,ENST00000517929,NM_001040172.2;HTR4,missense_variant,p.Ala193Pro,ENST00000524063,;HTR4,missense_variant,p.Ala193Pro,ENST00000522588,;HTR4,non_coding_transcript_exon_variant,,ENST00000521124,;	G	ENST00000360693	Transcript	missense_variant	716/3082	577/1287	193/428	A/P	Gcc/Ccc	rs751138733	1		-1	HTR4	HGNC	HGNC:5299	protein_coding	YES	CCDS34272.1	ENSP00000353915	Q13639		UPI00002323B1		deleterious(0)		6/8		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF33,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	5			1										PASS		rs751138733	.												G	3	3	43	148509955	148509955	C	G	1	0	0	0	0	1	0	0	0	7345	768	27	4		4	HTR4	5	148509955	Missense_Mutation	SNP	C	C3N-00217_TP	848999	148509955	33028304	217	12655											
ADAM19	0	.	GRCh38	chr5	157491891	157491891	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagaaggaggtgttccTgcactgcccctcaaagcaaa	13	8	9	11	0	2	1	2	0	0	1	3	2	3	2	3	2	3	3	3	2	4	2	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.1930A>T	p.Arg644Trp	p.R644W	ENST00000257527	17/23	279	211	68	227	227	0	strelka-varscan-mutect	ADAM19,missense_variant,p.Arg644Trp,ENST00000257527,NM_033274.4;ADAM19,missense_variant,p.Arg644Trp,ENST00000517905,;ADAM19,missense_variant,p.Arg215Trp,ENST00000517374,;ADAM19,3_prime_UTR_variant,,ENST00000517951,;	A	ENST00000257527	Transcript	missense_variant	2009/6481	1930/2757	644/918	R/W	Agg/Tgg		1		-1	ADAM19	HGNC	HGNC:197	protein_coding	YES	CCDS4338.1	ENSP00000257527	Q9H013		UPI000013CF6A	NM_033274.4	deleterious(0)		17/23		hmmpanther:PTHR11905:SF19,hmmpanther:PTHR11905,SMART_domains:SM00608																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	157491891	157491891	T	A	1	0	0	0	0	1	0	0	0	284	1579	55	4		4	ADAM19	5	157491891	Missense_Mutation	SNP	T	C3N-00217_TP	8981936	157491891	24046368	218	12656											
TENM2	0	.	GRCh38	chr5	168204621	168204621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcatcttggagttacGgtaaatggcctcacaggcaa	12	8	11	10	1	2	0	1	0	1	0	2	2	2	1	2	4	2	4	2	4	4	3	rs754860654		C3N-00217_TP	C3N-00217_NB	G	G																c.3824G>T	p.Arg1275Leu	p.R1275L	ENST00000518659	19/29	83	53	30	75	74	1	strelka-varscan-mutect	TENM2,missense_variant,p.Arg1154Leu,ENST00000519204,;TENM2,missense_variant,p.Arg1275Leu,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Arg1043Leu,ENST00000520394,;	T	ENST00000518659	Transcript	missense_variant,splice_region_variant	3863/8550	3824/8325	1275/2774	R/L	cGa/cTa	rs754860654	1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1	deleterious(0)		19/29		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,Gene3D:2.120.10.30,Superfamily_domains:SSF101898																	MODERATE	1	SNV	5			1										PASS		rs754860654	.												T	3	4	43	168204621	168204621	G	T	1	0	0	0	0	1	0	0	0	16172	1130	39	1		1	TENM2	5	168204621	Missense_Mutation	SNP	G	C3N-00217_TP	10712730	168204621	13333638	219	12657											
SLIT3	0	.	GRCh38	chr5	168762601	168762601	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctggttggagcagtcCacaatcgtgccctcacagcg	8	9	11	13	2	2	0	1	0	1	0	4	1	3	1	2	2	4	3	2	2	1	2	rs778742275		C3N-00217_TP	C3N-00217_NB	C	C																c.1548G>T	p.=	p.V516V	ENST00000332966	15/36	186	144	42	154	153	1	strelka-varscan-mutect	SLIT3,synonymous_variant,p.=,ENST00000519560,NM_003062.3;SLIT3,synonymous_variant,p.=,ENST00000404867,;SLIT3,synonymous_variant,p.=,ENST00000332966,NM_001271946.1;SLIT3,non_coding_transcript_exon_variant,,ENST00000519486,;	A	ENST00000332966	Transcript	synonymous_variant	1621/4895	1548/4593	516/1530	V	gtG/gtT	rs778742275	1		-1	SLIT3	HGNC	HGNC:11087	protein_coding	YES	CCDS64311.1	ENSP00000332164	O75094		UPI0001E8F75D	NM_001271946.1			15/36		SMART_domains:SM00013,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		rs778742275	.												A	2	1	43	168762601	168762601	C	A	1	0	0	0	0	0	0	0	1	15032	581	21	2		2	SLIT3	5	168762601	Silent	SNP	C	C3N-00217_TP	557980	168762601	12775658	220	12658											
C5orf58	0	.	GRCh38	chr5	170235021	170235021	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataagctaaatgtggacaaAgtaattaaaaatattaacac	21	10	5	5	0	0	0	0	0	0	0	0	1	0	1	0	1	2	2	0	1	10	6	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.108A>C	p.Lys36Asn	p.K36N	ENST00000593851	3/4	86	79	7	146	146	0	strelka-varscan-mutect	C5orf58,missense_variant,p.Lys15Asn,ENST00000521850,;C5orf58,missense_variant,p.Lys15Asn,ENST00000524171,;C5orf58,missense_variant,p.Lys15Asn,ENST00000517575,;C5orf58,missense_variant,p.Lys36Asn,ENST00000593851,NM_001102609.1;C5orf58,missense_variant,p.Lys15Asn,ENST00000421269,;C5orf58,upstream_gene_variant,,ENST00000518395,;	C	ENST00000593851	Transcript	missense_variant	191/509	108/309	36/102	K/N	aaA/aaC		1		1	C5orf58	HGNC	HGNC:37272	protein_coding	YES		ENSP00000490013	C9J3I9		UPI0000160413	NM_001102609.1	tolerated(0.07)		3/4																			MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	43	170235021	170235021	A	C	1	0	0	0	0	1	0	0	0	2108	69	3	5		5	C5orf58	5	170235021	Missense_Mutation	SNP	A	C3N-00217_TP	1472420	170235021	11303238	221	12659											
LCP2	0	.	GRCh38	chr5	170287990	170287990	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacccggagcttggggaaCttctggatgtcattttctgt	6	13	13	9	1	3	0	1	0	2	0	3	3	3	3	1	5	2	2	1	5	1	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.168G>A	p.=	p.K56K	ENST00000046794	3/21	291	259	32	262	262	0	strelka-varscan-mutect	LCP2,synonymous_variant,p.=,ENST00000046794,NM_005565.3;LCP2,synonymous_variant,p.=,ENST00000628092,;LCP2,non_coding_transcript_exon_variant,,ENST00000522760,;LCP2,non_coding_transcript_exon_variant,,ENST00000519594,;LCP2,non_coding_transcript_exon_variant,,ENST00000522823,;LCP2,non_coding_transcript_exon_variant,,ENST00000519149,;	T	ENST00000046794	Transcript	synonymous_variant	784/4678	168/1602	56/533	K	aaG/aaA		1		-1	LCP2	HGNC	HGNC:6529	protein_coding	YES	CCDS47339.1	ENSP00000046794	Q13094		UPI000012E2AE	NM_005565.3			3/21		Gene3D:1.10.150.50,Pfam_domain:PF07647,SMART_domains:SM00454,Superfamily_domains:SSF47769																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	170287990	170287990	C	T	1	0	0	0	0	0	0	0	1	8598	564	20	3		3	LCP2	5	170287990	Silent	SNP	C	C3N-00217_TP	52969	170287990	11250269	222	12660											
MSX2	0	.	GRCh38	chr5	174724845	174724845	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagccgcccaaggaggcGtccccgctgccggccgaaag	10	2	14	15	5	0	1	0	0	0	1	1	3	1	2	6	3	2	1	6	3	4	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.186G>T	p.=	p.A62A	ENST00000239243	1/2	219	159	60	206	206	0	strelka-varscan-mutect	MSX2,synonymous_variant,p.=,ENST00000239243,NM_002449.4;MSX2,synonymous_variant,p.=,ENST00000507785,;	T	ENST00000239243	Transcript	synonymous_variant	313/2241	186/804	62/267	A	gcG/gcT		1		1	MSX2	HGNC	HGNC:7392	protein_coding	YES	CCDS4392.1	ENSP00000239243	P35548		UPI000013CA79	NM_002449.4			1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24338:SF10,hmmpanther:PTHR24338																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	174724845	174724845	G	T	1	0	0	0	0	0	0	0	1	9880	1132	40	1		1	MSX2	5	174724845	Silent	SNP	G	C3N-00217_TP	4436855	174724845	6813414	223	12661											
FAM153B	0	.	GRCh38	chr5	176099030	176099030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctaaacgcaggcagacacaGgcatccaaaccaacggtacg	15	4	9	13	3	1	1	0	0	1	1	2	1	2	1	2	3	4	4	2	3	5	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.316G>T	p.Gly106Cys	p.G106C	ENST00000515817	9/20	196	150	46	180	180	0	strelka-varscan-mutect	FAM153B,missense_variant,p.Gly106Cys,ENST00000515817,NM_001265615.1;FAM153B,missense_variant,p.Gly183Cys,ENST00000253490,;FAM153B,missense_variant,p.Gly106Cys,ENST00000510151,;FAM153B,missense_variant,p.Gly95Cys,ENST00000503724,;FAM153B,intron_variant,,ENST00000512862,;FAM153B,intron_variant,,ENST00000611539,;FAM153B,non_coding_transcript_exon_variant,,ENST00000393522,;FAM153B,downstream_gene_variant,,ENST00000503533,;FAM153B,missense_variant,p.Gly106Cys,ENST00000508296,;	T	ENST00000515817	Transcript	missense_variant	600/1966	316/933	106/310	G/C	Ggc/Tgc		1		1	FAM153B	HGNC	HGNC:27323	protein_coding	YES	CCDS43401.2	ENSP00000427684		D6RF84	UPI00001D7EF3	NM_001265615.1	tolerated_low_confidence(0.13)		9/20		Pfam_domain:PF15722,hmmpanther:PTHR40712,hmmpanther:PTHR40712:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	176099030	176099030	G	T	1	0	0	0	0	1	0	0	0	5311	1000	35	2		2	FAM153B	5	176099030	Missense_Mutation	SNP	G	C3N-00217_TP	1374185	176099030	5439229	224	12662											
PPP1R3G	0	.	GRCh38	chr6	5086089	5086089	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggctccggccgctcttcCagctcccggggccgagcgcc	2	5	13	21	6	1	0	0	0	1	0	4	1	4	0	7	4	2	3	7	4	0	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.604C>T	p.Gln202Ter	p.Q202*	ENST00000405617	1/1	157	125	32	112	112	0	strelka-varscan-mutect	PPP1R3G,stop_gained,p.Gln202Ter,ENST00000405617,NM_001145115.2;	T	ENST00000405617	Transcript	stop_gained	1509/4907	604/1077	202/358	Q/*	Cag/Tag		1		1	PPP1R3G	HGNC	HGNC:14945	protein_coding	YES	CCDS47366.1	ENSP00000393832	B7ZBB8		UPI0000237382	NM_001145115.2			1/1		hmmpanther:PTHR12307:SF7,hmmpanther:PTHR12307																	HIGH	1	SNV				1										PASS		.	.												T	4	4	43	5086089	5086089	C	T	1	0	0	0	0	0	1	0	0	12497	595	21	3		3	PPP1R3G	6	5086089	Nonsense_Mutation	SNP	C	C3N-00217_TP		5086089	165719890	225	12663											
LYRM4	0	.	GRCh38	chr6	5186969	5186969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccagcctgggcgacagaGtgagagtccatcttaaaaaa	14	7	10	10	1	1	2	0	1	1	2	3	4	3	2	3	1	1	0	3	1	3	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.219C>A	p.His73Gln	p.H73Q	ENST00000500576	3/3	14	10	4	13	13	0	strelka-mutect	LYRM4,missense_variant,p.His73Gln,ENST00000500576,NM_001164840.2;LYRM4,intron_variant,,ENST00000330636,NM_020408.5;LYRM4,intron_variant,,ENST00000464010,NM_001164841.2;LYRM4,intron_variant,,ENST00000468929,;LYRM4,intron_variant,,ENST00000480566,;LYRM4,intron_variant,,ENST00000463032,;	T	ENST00000500576	Transcript	missense_variant	223/592	219/393	73/130	H/Q	caC/caA		1		-1	LYRM4	HGNC	HGNC:21365	protein_coding	YES	CCDS54962.1	ENSP00000443900		F5H189	UPI0001B71BCB	NM_001164840.2	tolerated(0.31)		3/3		hmmpanther:PTHR16213																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	43	5186969	5186969	G	T	1	0	0	0	0	1	0	0	0	9033	1020	36	2		2	LYRM4	6	5186969	Missense_Mutation	SNP	G	C3N-00217_TP	100880	5186969	165619010	226	12664											
POM121L2	0	.	GRCh38	chr6	27310030	27310030	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattagcagtgctgcttctaGgggatatctgtacaacactg	11	12	10	8	0	2	0	0	0	2	0	2	1	2	1	0	2	5	4	0	2	6	5	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.2141C>G	p.Pro714Arg	p.P714R	ENST00000444565	1/1	333	234	99	318	317	1	strelka-varscan-mutect	POM121L2,missense_variant,p.Pro714Arg,ENST00000444565,NM_033482.3;POM121L2,intron_variant,,ENST00000429945,;	C	ENST00000444565	Transcript	missense_variant	2141/3108	2141/3108	714/1035	P/R	cCt/cGt		1		-1	POM121L2	HGNC	HGNC:13973	protein_coding	YES	CCDS59497.1	ENSP00000392726	Q96KW2		UPI0000198C27	NM_033482.3	deleterious(0)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	43	27310030	27310030	G	C	1	0	0	0	0	1	0	0	0	12353	1000	35	4		4	POM121L2	6	27310030	Missense_Mutation	SNP	G	C3N-00217_TP	22123061	27310030	143495949	227	12665											
MDC1	0	.	GRCh38	chr6	30712532	30712532	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atctttgtgtgatccttgagGacagcttctctattttccac	7	17	7	10	0	2	2	0	2	2	0	5	3	4	3	2	1	1	1	2	1	1	6			C3N-00217_TP	C3N-00217_NB	G	G																c.1410C>G	p.=	p.V470V	ENST00000376406	5/15	201	165	36	136	136	0	strelka-varscan-mutect	MDC1,synonymous_variant,p.=,ENST00000376406,NM_014641.2;MDC1,upstream_gene_variant,,ENST00000417033,;MDC1,downstream_gene_variant,,ENST00000613547,;MDC1,downstream_gene_variant,,ENST00000422266,;MDC1,downstream_gene_variant,,ENST00000416571,;MDC1,downstream_gene_variant,,ENST00000425072,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000494654,;MDC1,upstream_gene_variant,,ENST00000492462,;	C	ENST00000376406	Transcript	synonymous_variant	2058/7576	1410/6270	470/2089	V	gtC/gtG	COSM3251977,COSM3251978	1		-1	MDC1	HGNC	HGNC:21163	protein_coding	YES	CCDS34384.1	ENSP00000365588	Q14676		UPI00001AF453	NM_014641.2			5/15		Low_complexity_(Seg):seg,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF1											1,1						LOW		SNV	5		1,1	1										PASS		.	.												C	2	2	43	30712532	30712532	G	C	1	0	0	0	0	0	0	0	1	9341	1161	41	4		4	MDC1	6	30712532	Silent	SNP	G	C3N-00217_TP	3402502	30712532	140093447	228	12666											
LY6G6E	0	.	GRCh38	chr6	31712721	31712721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgacactcggtgggaacagGgtggcagggtttggtgaagc	8	7	18	8	2	0	1	0	1	0	0	1	3	0	2	1	6	2	2	1	6	2	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.121C>A	p.Pro41Thr	p.P41T	ENST00000461287	2/22	273	101	172	110	110	0	strelka-varscan-mutect	XXbac-BPG32J3.20,missense_variant,p.Pro41Thr,ENST00000461287,;LY6G6E,missense_variant,p.Pro66Thr,ENST00000409239,;LY6G6E,missense_variant,p.Pro41Thr,ENST00000399142,;LY6G6E,missense_variant,p.Pro41Thr,ENST00000450147,;LY6G6E,missense_variant,p.Pro41Thr,ENST00000383418,;XXbac-BPG32J3.19,intron_variant,,ENST00000503322,;LY6G6F,downstream_gene_variant,,ENST00000375832,NM_001003693.1;LY6G6D,upstream_gene_variant,,ENST00000375824,;LY6G6D,upstream_gene_variant,,ENST00000375825,NM_021246.2;LY6G6D,upstream_gene_variant,,ENST00000479334,;	T	ENST00000461287	Transcript	missense_variant	381/2332	121/192	41/63	P/T	Cct/Act		1		-1	XXbac-BPG32J3.20	Clone_based_vega_gene		protein_coding	YES		ENSP00000475702		U3KQA8	UPI00018814AC		deleterious_low_confidence(0)		2/22		hmmpanther:PTHR14569																	MODERATE		SNV	2			1										PASS		rs1368894859	.												T	3	4	43	31712721	31712721	G	T	1	0	0	0	0	1	0	0	0	9006	1232	43	2		2	LY6G6E	6	31712721	Missense_Mutation	SNP	G	C3N-00217_TP	1000189	31712721	139093258	229	12667											
SKIV2L	0	.	GRCh38	chr6	31967788	31967788	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgtcccaggacccacAggacagggggccagccactg	8	4	13	16	0	0	0	0	0	0	0	1	2	1	2	5	4	1	0	5	4	0	1	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.2657A>T	p.Gln886Leu	p.Q886L	ENST00000375394	22/28	359	244	115	222	222	0	strelka-varscan-mutect	SKIV2L,missense_variant,p.Gln886Leu,ENST00000375394,NM_006929.4;DXO,downstream_gene_variant,,ENST00000375349,;STK19,upstream_gene_variant,,ENST00000375331,NM_004197.1;DXO,downstream_gene_variant,,ENST00000337523,NM_005510.3;STK19,upstream_gene_variant,,ENST00000375333,NM_032454.1;DXO,downstream_gene_variant,,ENST00000375356,;SKIV2L,upstream_gene_variant,,ENST00000491994,;DXO,downstream_gene_variant,,ENST00000495340,;STK19,upstream_gene_variant,,ENST00000460018,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000461915,;DXO,downstream_gene_variant,,ENST00000478221,;DXO,downstream_gene_variant,,ENST00000474587,;DXO,downstream_gene_variant,,ENST00000487914,;SKIV2L,upstream_gene_variant,,ENST00000471818,;STK19,upstream_gene_variant,,ENST00000463823,;STK19,upstream_gene_variant,,ENST00000466336,;SKIV2L,upstream_gene_variant,,ENST00000470453,;SKIV2L,missense_variant,p.Gln11Leu,ENST00000483553,;SKIV2L,3_prime_UTR_variant,,ENST00000474839,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000465703,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000484835,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000494058,;DXO,downstream_gene_variant,,ENST00000477826,;DXO,downstream_gene_variant,,ENST00000473976,;STK19,upstream_gene_variant,,ENST00000473983,;STK19,upstream_gene_variant,,ENST00000466132,;DXO,downstream_gene_variant,,ENST00000485557,;DXO,downstream_gene_variant,,ENST00000498357,;DXO,downstream_gene_variant,,ENST00000492946,;STK19,upstream_gene_variant,,ENST00000492583,;DXO,downstream_gene_variant,,ENST00000491327,;STK19,upstream_gene_variant,,ENST00000479644,;DXO,downstream_gene_variant,,ENST00000480240,;SKIV2L,downstream_gene_variant,,ENST00000461073,;STK19,upstream_gene_variant,,ENST00000491861,;STK19,upstream_gene_variant,,ENST00000519179,;STK19,upstream_gene_variant,,ENST00000483801,;STK19,upstream_gene_variant,,ENST00000469907,;STK19,upstream_gene_variant,,ENST00000478486,;DXO,downstream_gene_variant,,ENST00000460058,;SKIV2L,upstream_gene_variant,,ENST00000485349,;STK19,upstream_gene_variant,,ENST00000484540,;SKIV2L,downstream_gene_variant,,ENST00000466290,;STK19,upstream_gene_variant,,ENST00000471028,;	T	ENST00000375394	Transcript	missense_variant	2770/3894	2657/3741	886/1246	Q/L	cAg/cTg		1		1	SKIV2L	HGNC	HGNC:10898	protein_coding	YES	CCDS4731.1	ENSP00000364543	Q15477		UPI000045740B	NM_006929.4	tolerated(0.23)		22/28		Pfam_domain:PF13234,PIRSF_domain:PIRSF005198																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	31967788	31967788	A	T	1	0	0	0	0	1	0	0	0	14622	188	7	4		4	SKIV2L	6	31967788	Missense_Mutation	SNP	A	C3N-00217_TP	255067	31967788	138838191	230	12668											
ZFAND3	0	.	GRCh38	chr6	38116677	38116677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaacagaagagtcgacgtcGgtgcttccagtgccaaacca	13	7	10	11	3	0	2	0	0	0	2	3	3	1	2	3	1	4	1	3	1	4	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.467G>T	p.Arg156Leu	p.R156L	ENST00000287218	5/6	167	114	53	114	114	0	strelka-varscan-mutect	ZFAND3,missense_variant,p.Arg156Leu,ENST00000287218,NM_021943.2;ZFAND3,missense_variant,p.Arg134Leu,ENST00000373391,;ZFAND3,missense_variant,p.Arg133Leu,ENST00000373389,;ZFAND3,downstream_gene_variant,,ENST00000474522,;ZFAND3,non_coding_transcript_exon_variant,,ENST00000440482,;	T	ENST00000287218	Transcript	missense_variant	914/3366	467/684	156/227	R/L	cGg/cTg		1		1	ZFAND3	HGNC	HGNC:18019	protein_coding	YES	CCDS4836.1	ENSP00000287218	Q9H8U3	A0A024RD12	UPI000006E3A4	NM_021943.2	deleterious(0)		5/6		Gene3D:4.10.1110.10,PROSITE_profiles:PS51039,hmmpanther:PTHR10634,hmmpanther:PTHR10634:SF28,Low_complexity_(Seg):seg,Superfamily_domains:SSF118310																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	38116677	38116677	G	T	1	0	0	0	0	1	0	0	0	18205	1116	39	1		1	ZFAND3	6	38116677	Missense_Mutation	SNP	G	C3N-00217_TP	6148889	38116677	132689302	231	12669											
DNAH8	0	.	GRCh38	chr6	38823601	38823601	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctgactgaaatcagaTcagaaattctacactatgct	13	12	5	11	0	4	4	2	2	2	2	5	4	4	4	1	0	2	1	1	0	4	3	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.3760T>A	p.Ser1254Thr	p.S1254T	ENST00000327475	28/93	135	107	28	141	140	1	strelka-varscan-mutect	DNAH8,missense_variant,p.Ser1254Thr,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Ser1037Thr,ENST00000359357,;DNAH8,missense_variant,p.Ser1254Thr,ENST00000449981,;SNORA8,upstream_gene_variant,,ENST00000391284,;	A	ENST00000327475	Transcript	missense_variant	3869/14360	3760/14124	1254/4707	S/T	Tca/Aca		1		1	DNAH8	HGNC	HGNC:2952	protein_coding	YES	CCDS75447.1	ENSP00000333363		A0A075B6F3	UPI000179A984	NM_001206927.1	tolerated(0.29)		28/93		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF280																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	43	38823601	38823601	T	A	1	0	0	0	0	1	0	0	0	4422	1435	50	4		4	DNAH8	6	38823601	Missense_Mutation	SNP	T	C3N-00217_TP	706924	38823601	131982378	232	12670											
GUCA1B	0	.	GRCh38	chr6	42188732	42188732	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtcgatggtgttgtcCtgcattagatgtggatgctg	8	13	15	5	1	0	1	0	0	0	1	2	4	1	3	1	3	2	3	1	3	2	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.208-1G>T		p.X70_splice	ENST00000230361		502	448	54	348	348	0	strelka-varscan-mutect	GUCA1B,splice_acceptor_variant,,ENST00000230361,NM_002098.5;	A	ENST00000230361	Transcript	splice_acceptor_variant	-/1113	208/603	70/200				1		-1	GUCA1B	HGNC	HGNC:4679	protein_coding	YES	CCDS4865.1	ENSP00000230361	Q9UMX6		UPI000013C92C	NM_002098.5				1/3																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	43	42188732	42188732	C	A	1	0	0	0	0	0	0	1	0	6770	695	24	2		2	GUCA1B	6	42188732	Splice_Site	SNP	C	C3N-00217_TP	3365131	42188732	128617247	233	12671											
TFAP2D	0	.	GRCh38	chr6	50715599	50715599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggctggccgccgcgggaGcagacgacttgcaggtaaat	8	6	17	10	4	0	1	0	0	0	1	0	3	0	2	2	5	2	4	2	5	2	2	rs765913790		C3N-00217_TP	C3N-00217_NB	G	G																c.523G>T	p.Ala175Ser	p.A175S	ENST00000008391	2/8	60	46	14	60	60	0	strelka-varscan-mutect	TFAP2D,missense_variant,p.Ala175Ser,ENST00000008391,NM_172238.3;TFAP2D,upstream_gene_variant,,ENST00000492804,;	T	ENST00000008391	Transcript	missense_variant	751/1711	523/1359	175/452	A/S	Gca/Tca	rs765913790,COSM190932	1		1	TFAP2D	HGNC	HGNC:15581	protein_coding	YES	CCDS4933.1	ENSP00000008391	Q7Z6R9		UPI00001A3A89	NM_172238.3	tolerated(0.87)		2/8		Low_complexity_(Seg):seg,hmmpanther:PTHR10812:SF5,hmmpanther:PTHR10812											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs765913790	.												T	3	4	43	50715599	50715599	G	T	1	0	0	0	0	1	0	0	0	16223	971	34	2		2	TFAP2D	6	50715599	Missense_Mutation	SNP	G	C3N-00217_TP	8526867	50715599	120090380	234	12672											
RIMS1	0	.	GRCh38	chr6	72398295	72398295	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagggccaattagaagtGgaagtcattagagcacgaag	18	6	12	5	1	1	2	1	0	0	2	1	4	1	3	1	2	1	1	1	2	8	2	rs375475877		C3N-00217_TP	C3N-00217_NB	G	G																c.4665G>T	p.=	p.V1555V	ENST00000521978	32/34	104	90	14	177	175	2	strelka-varscan-mutect	RIMS1,synonymous_variant,p.=,ENST00000264839,;RIMS1,synonymous_variant,p.=,ENST00000521978,NM_014989.5;RIMS1,synonymous_variant,p.=,ENST00000520567,;RIMS1,synonymous_variant,p.=,ENST00000517960,;RIMS1,synonymous_variant,p.=,ENST00000518273,;RIMS1,synonymous_variant,p.=,ENST00000522291,;RIMS1,synonymous_variant,p.=,ENST00000401910,NM_001168407.1;RIMS1,synonymous_variant,p.=,ENST00000517433,;RIMS1,synonymous_variant,p.=,ENST00000523963,NM_001168408.1;RIMS1,synonymous_variant,p.=,ENST00000517827,NM_001168410.1;RIMS1,synonymous_variant,p.=,ENST00000425662,NM_001168409.1;RIMS1,synonymous_variant,p.=,ENST00000453976,;RIMS1,synonymous_variant,p.=,ENST00000522211,;RIMS1,synonymous_variant,p.=,ENST00000370420,;RIMS1,synonymous_variant,p.=,ENST00000414192,NM_001168411.1;RIMS1,intron_variant,,ENST00000491071,;RIMS1,non_coding_transcript_exon_variant,,ENST00000431478,;RIMS1,non_coding_transcript_exon_variant,,ENST00000463023,;	T	ENST00000521978	Transcript	synonymous_variant	4665/5079	4665/5079	1555/1692	V	gtG/gtT	rs375475877	1		1	RIMS1	HGNC	HGNC:17282	protein_coding	YES	CCDS47449.1	ENSP00000428417	Q86UR5		UPI00001908FB	NM_014989.5			32/34		PROSITE_profiles:PS50004,hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	LOW	1	SNV	1			1										PASS		rs375475877	.												T	2	4	43	72398295	72398295	G	T	1	0	0	0	0	0	0	0	1	13542	1335	47	2		2	RIMS1	6	72398295	Silent	SNP	G	C3N-00217_TP	21682696	72398295	98407684	235	12673											
CEP162	0	.	GRCh38	chr6	84149703	84149703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcagtatcttccttgacCctacagagcaaatgaaagaa	14	9	8	10	0	1	4	0	2	1	2	2	4	2	4	2	0	3	4	2	0	5	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.3630G>T	p.Arg1210Ser	p.R1210S	ENST00000403245	24/27	30	18	12	69	69	0	strelka-varscan-mutect	CEP162,missense_variant,p.Arg1210Ser,ENST00000403245,NM_014895.3;CEP162,missense_variant,p.Arg1134Ser,ENST00000617909,;CEP162,missense_variant,p.Arg1134Ser,ENST00000257766,NM_001286206.1;CEP162,splice_region_variant,,ENST00000461137,;CEP162,splice_region_variant,,ENST00000487999,;	A	ENST00000403245	Transcript	missense_variant,splice_region_variant	3745/5156	3630/4212	1210/1403	R/S	agG/agT		1		-1	CEP162	HGNC	HGNC:21107	protein_coding	YES	CCDS34494.2	ENSP00000385215	Q5TB80		UPI0001533DAA	NM_014895.3	deleterious(0)		24/27		hmmpanther:PTHR34031																	MODERATE	1	SNV	5			1										PASS		rs1332370074	.												A	3	1	43	84149703	84149703	C	A	1	0	0	0	0	1	0	0	0	2962	637	22	2		2	CEP162	6	84149703	Missense_Mutation	SNP	C	C3N-00217_TP	11751408	84149703	86656276	236	12674											
GABRR2	0	.	GRCh38	chr6	89267768	89267768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttctcatctgtttttaggGattcatccccattcttccag	6	18	5	12	0	5	0	2	0	4	0	8	1	7	1	3	1	0	1	3	1	1	7	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.647C>A	p.Ser216Tyr	p.S216Y	ENST00000402938	6/9	123	96	27	162	162	0	strelka-varscan-mutect	GABRR2,missense_variant,p.Ser216Tyr,ENST00000402938,NM_002043.3;GABRR2,downstream_gene_variant,,ENST00000602808,;GABRR2,non_coding_transcript_exon_variant,,ENST00000602432,;	T	ENST00000402938	Transcript	missense_variant	781/1682	647/1398	216/465	S/Y	tCc/tAc		1		-1	GABRR2	HGNC	HGNC:4091	protein_coding	YES	CCDS5020.3	ENSP00000386029	P28476		UPI000012B0DB	NM_002043.3	deleterious(0)		6/9		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF197,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		rs894421622	.												T	3	4	43	89267768	89267768	G	T	1	0	0	0	0	1	0	0	0	6048	1174	41	2		2	GABRR2	6	89267768	Missense_Mutation	SNP	G	C3N-00217_TP	5118065	89267768	81538211	237	12675											
FUT9	0	.	GRCh38	chr6	96203419	96203419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgccaagcaatgttcaacatCcaaggatgccatctcacaac	14	8	6	13	0	2	0	2	0	1	0	4	1	3	1	3	1	5	2	3	1	5	1			C3N-00217_TP	C3N-00217_NB	C	C																c.264C>G	p.Ile88Met	p.I88M	ENST00000302103	3/3	42	34	8	52	52	0	strelka-varscan-mutect	FUT9,missense_variant,p.Ile88Met,ENST00000302103,NM_006581.3;	G	ENST00000302103	Transcript	missense_variant	590/12783	264/1080	88/359	I/M	atC/atG	COSM3630646	1		1	FUT9	HGNC	HGNC:4020	protein_coding	YES	CCDS5033.1	ENSP00000302599	Q9Y231		UPI000013E792	NM_006581.3	deleterious(0.04)		3/3		Pfam_domain:PF17039,hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF10,Superfamily_domains:SSF53756											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	43	96203419	96203419	C	G	1	0	0	0	0	1	0	0	0	5983	845	30	4		4	FUT9	6	96203419	Missense_Mutation	SNP	C	C3N-00217_TP	6935651	96203419	74602560	238	12676											
SIM1	0	.	GRCh38	chr6	100393813	100393813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtccagaagctgcggagagGccgtgtcggtcaagggactt	8	7	17	9	3	1	2	1	0	0	2	3	4	2	3	2	5	2	1	2	5	2	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1244C>A	p.Ala415Asp	p.A415D	ENST00000369208	11/12	57	48	9	71	70	1	strelka-varscan-mutect	SIM1,missense_variant,p.Ala415Asp,ENST00000369208,;SIM1,missense_variant,p.Ala415Asp,ENST00000262901,NM_005068.2;SIM1,non_coding_transcript_exon_variant,,ENST00000505753,;	T	ENST00000369208	Transcript	missense_variant	2027/8430	1244/2301	415/766	A/D	gCc/gAc		1		-1	SIM1	HGNC	HGNC:10882	protein_coding	YES	CCDS5045.1	ENSP00000358210	P81133		UPI000013D355		deleterious(0)		11/12		Pfam_domain:PF06621,PROSITE_profiles:PS51302,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF29																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	100393813	100393813	G	T	1	0	0	0	0	1	0	0	0	14586	1203	42	2		2	SIM1	6	100393813	Missense_Mutation	SNP	G	C3N-00217_TP	4190394	100393813	70412166	239	12677											
SERINC1	0	.	GRCh38	chr6	122471734	122471734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacagccccaggacgctccCcatctccacaacgtcacaag	11	4	7	19	2	2	0	1	0	1	0	4	1	3	1	5	1	2	2	5	1	2	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.4G>T	p.Gly2Trp	p.G2W	ENST00000339697	1/10	165	114	51	191	191	0	strelka-varscan-mutect	SERINC1,missense_variant,p.Gly2Trp,ENST00000339697,NM_020755.2;PKIB,upstream_gene_variant,,ENST00000615438,NM_001270394.1;PKIB,upstream_gene_variant,,ENST00000392491,NM_001270393.1,NM_181794.2;RP3-425C14.5,upstream_gene_variant,,ENST00000624363,;PKIB,upstream_gene_variant,,ENST00000607474,;PKIB,upstream_gene_variant,,ENST00000608895,;	A	ENST00000339697	Transcript	missense_variant	89/3137	4/1362	2/453	G/W	Ggg/Tgg		1		-1	SERINC1	HGNC	HGNC:13464	protein_coding	YES	CCDS5125.1	ENSP00000342962	Q9NRX5		UPI000004E6A2	NM_020755.2	deleterious(0)		1/10		Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR10383:SF15,hmmpanther:PTHR10383																	MODERATE	1	SNV	1			1										PASS		rs1182271335	.												A	3	1	43	122471734	122471734	C	A	1	0	0	0	0	1	0	0	0	14355	623	22	2		2	SERINC1	6	122471734	Missense_Mutation	SNP	C	C3N-00217_TP	22077921	122471734	48334245	240	12678											
ARHGAP18	0	.	GRCh38	chr6	129629380	129629380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggcatcatcgcctttgctCttctggattttctccttgga	4	17	9	11	1	4	0	1	0	3	0	6	2	4	2	2	3	1	2	2	3	0	5	rs745580689		C3N-00217_TP	C3N-00217_NB	C	C																c.759G>C	p.Lys253Asn	p.K253N	ENST00000368149	5/15	114	75	39	143	143	0	strelka-varscan-mutect	ARHGAP18,missense_variant,p.Lys253Asn,ENST00000368149,NM_033515.2;	G	ENST00000368149	Transcript	missense_variant	848/4462	759/1992	253/663	K/N	aaG/aaC	rs745580689,COSM4855615	1		-1	ARHGAP18	HGNC	HGNC:21035	protein_coding	YES	CCDS34535.1	ENSP00000357131	Q8N392		UPI000020E208	NM_033515.2	tolerated(0.25)		5/15		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF6,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs745580689	.												G	3	3	43	129629380	129629380	C	G	1	0	0	0	0	1	0	0	0	992	912	32	4		4	ARHGAP18	6	129629380	Missense_Mutation	SNP	C	C3N-00217_TP	7157646	129629380	41176599	241	12679											
VNN1	0	.	GRCh38	chr6	132693205	132693205	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacagcaggatcatggaaGagtatatcaaagcatgtgaa	17	8	11	5	0	2	2	2	1	0	1	2	4	2	4	0	2	3	4	0	2	6	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.645C>A	p.=	p.L215L	ENST00000367928	4/7	124	92	32	192	191	1	strelka-varscan-mutect	VNN1,synonymous_variant,p.=,ENST00000367928,NM_004666.2;	T	ENST00000367928	Transcript	synonymous_variant	659/3106	645/1542	215/513	L	ctC/ctA		1		-1	VNN1	HGNC	HGNC:12705	protein_coding	YES	CCDS5159.1	ENSP00000356905	O95497		UPI000013C91E	NM_004666.2			4/7		PROSITE_profiles:PS50263,hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF16,PIRSF_domain:PIRSF011861,Pfam_domain:PF00795,Gene3D:3.60.110.10,Superfamily_domains:SSF56317																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	132693205	132693205	G	T	1	0	0	0	0	0	0	0	1	17729	929	33	2		2	VNN1	6	132693205	Silent	SNP	G	C3N-00217_TP	3063825	132693205	38112774	242	12680											
SGK1	0	.	GRCh38	chr6	134262078	134262078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgtgcaccatggaggagCcggtgtacttcaggctggga	8	8	17	8	1	1	0	1	0	0	0	1	4	1	4	2	6	3	3	2	6	1	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.140G>T	p.Gly47Val	p.G47V	ENST00000367858	2/14	44	38	6	63	63	0	strelka-varscan-mutect	SGK1,missense_variant,p.Gly47Val,ENST00000367858,NM_001143676.1;SGK1,missense_variant,p.Gly47Val,ENST00000524929,;SGK1,missense_variant,p.Gly47Val,ENST00000533224,;SGK1,missense_variant,p.Gly16Val,ENST00000461976,;SGK1,upstream_gene_variant,,ENST00000460769,;RNA5SP218,downstream_gene_variant,,ENST00000363188,;SGK1,upstream_gene_variant,,ENST00000484353,;	A	ENST00000367858	Transcript	missense_variant	738/3201	140/1581	47/526	G/V	gGc/gTc		1		-1	SGK1	HGNC	HGNC:10810	protein_coding	YES	CCDS47476.1	ENSP00000356832	O00141		UPI000013CA0E	NM_001143676.1	tolerated_low_confidence(0.14)		2/14																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	134262078	134262078	C	A	1	0	0	0	0	1	0	0	0	14467	739	26	2		2	SGK1	6	134262078	Missense_Mutation	SNP	C	C3N-00217_TP	1568873	134262078	36543901	243	12681											
SHPRH	0	.	GRCh38	chr6	145910508	145910508	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaagacatacgagatttcTttgtgagatgtggtctggcg	10	13	13	5	2	2	3	0	1	2	3	2	5	2	3	0	2	1	1	0	2	3	4	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.4455A>G	p.=	p.K1485K	ENST00000367505	25/30	111	88	23	109	109	0	strelka-varscan-mutect	SHPRH,synonymous_variant,p.=,ENST00000629427,;SHPRH,synonymous_variant,p.=,ENST00000367505,;SHPRH,synonymous_variant,p.=,ENST00000438092,NM_173082.3;SHPRH,synonymous_variant,p.=,ENST00000275233,NM_001042683.2;SHPRH,3_prime_UTR_variant,,ENST00000433355,;	C	ENST00000367505	Transcript	synonymous_variant	4720/7201	4455/5052	1485/1683	K	aaA/aaG		1		-1	SHPRH	HGNC	HGNC:19336	protein_coding	YES	CCDS43513.2	ENSP00000356475	Q149N8		UPI0000458A24				25/30		Gene3D:3.30.40.10																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	43	145910508	145910508	T	C	1	0	0	0	0	0	0	0	1	14554	1606	56	5		5	SHPRH	6	145910508	Silent	SNP	T	C3N-00217_TP	11648430	145910508	24895471	244	12682											
GRM1	0	.	GRCh38	chr6	146159379	146159379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagcggaatggacgctttCaaagagctggctgcccagga	11	6	15	9	2	1	2	1	0	0	2	1	6	1	5	1	4	3	3	1	4	2	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.732C>T	p.=	p.F244F	ENST00000361719	3/9	254	200	54	327	326	1	strelka-varscan-mutect	GRM1,synonymous_variant,p.=,ENST00000492807,NM_001278065.1,NM_001278066.1;GRM1,synonymous_variant,p.=,ENST00000361719,;GRM1,synonymous_variant,p.=,ENST00000282753,NM_001278064.1;GRM1,synonymous_variant,p.=,ENST00000355289,NM_001278067.1;GRM1,synonymous_variant,p.=,ENST00000507907,;GRM1,non_coding_transcript_exon_variant,,ENST00000502405,;GRM1,non_coding_transcript_exon_variant,,ENST00000507005,;	T	ENST00000361719	Transcript	synonymous_variant	1099/6754	732/3585	244/1194	F	ttC/ttT		1		1	GRM1	HGNC	HGNC:4593	protein_coding	YES	CCDS5209.1	ENSP00000354896	Q13255		UPI000013DCFD				3/9		hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF29,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR00248																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	43	146159379	146159379	C	T	1	0	0	0	0	0	0	0	1	6678	825	29	3		3	GRM1	6	146159379	Silent	SNP	C	C3N-00217_TP	248871	146159379	24646600	245	12683											
GRM1	0	.	GRCh38	chr6	146386931	146386931	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgctggatttgcacGgcctgcaaagagaatgaata	12	9	12	8	1	0	2	0	1	0	1	0	4	0	3	1	2	5	5	1	2	4	2	rs141287468		C3N-00217_TP	C3N-00217_NB	G	G																c.1644G>T	p.=	p.T548T	ENST00000361719	7/9	310	228	82	370	370	0	strelka-varscan-mutect	GRM1,synonymous_variant,p.=,ENST00000492807,NM_001278065.1,NM_001278066.1;GRM1,synonymous_variant,p.=,ENST00000361719,;GRM1,synonymous_variant,p.=,ENST00000282753,NM_001278064.1;GRM1,synonymous_variant,p.=,ENST00000355289,NM_001278067.1;GRM1,synonymous_variant,p.=,ENST00000507907,;	T	ENST00000361719	Transcript	synonymous_variant	2011/6754	1644/3585	548/1194	T	acG/acT	rs141287468	1		1	GRM1	HGNC	HGNC:4593	protein_coding	YES	CCDS5209.1	ENSP00000354896	Q13255		UPI000013DCFD				7/9		hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF29,PROSITE_patterns:PS00980,Pfam_domain:PF07562																	LOW	1	SNV	5			1										PASS		rs141287468	.												T	2	4	43	146386931	146386931	G	T	1	0	0	0	0	0	0	0	1	6678	1103	39	1		1	GRM1	6	146386931	Silent	SNP	G	C3N-00217_TP	227552	146386931	24419048	246	12684											
ADGB	0	.	GRCh38	chr6	146736544	146736544	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatactcttcaaaaagtttgGgctgtattggaaatgaattt	13	15	9	4	0	2	1	1	1	1	0	2	3	2	2	0	2	1	3	0	2	6	6	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.2841G>C	p.Trp947Cys	p.W947C	ENST00000397944	23/36	89	73	16	178	178	0	strelka-varscan-mutect	ADGB,missense_variant,p.Trp947Cys,ENST00000397944,NM_024694.3;ADGB,missense_variant,p.Trp9Cys,ENST00000367490,;ADGB,missense_variant,p.Trp367Cys,ENST00000480328,;ADGB,3_prime_UTR_variant,,ENST00000493950,;	C	ENST00000397944	Transcript	missense_variant	2917/5325	2841/5004	947/1667	W/C	tgG/tgC		1		1	ADGB	HGNC	HGNC:21212	protein_coding	YES		ENSP00000381036	Q8N7X0		UPI000020E382	NM_024694.3	deleterious(0)		23/36																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	43	146736544	146736544	G	C	1	0	0	0	0	1	0	0	0	351	1241	43	4		4	ADGB	6	146736544	Missense_Mutation	SNP	G	C3N-00217_TP	349613	146736544	24069435	247	12685											
SYNE1	0	.	GRCh38	chr6	152510216	152510216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgtgtactgaacccaCtttaataaagccttcttagc	11	12	6	12	0	1	1	0	1	1	0	1	1	1	1	3	0	5	2	3	0	6	6	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.558G>T	p.Lys186Asn	p.K186N	ENST00000367255	8/146	259	198	61	418	418	0	strelka-varscan-mutect	SYNE1,missense_variant,p.Lys186Asn,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Lys193Asn,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Lys169Asn,ENST00000341594,;SYNE1,missense_variant,p.Lys193Asn,ENST00000367248,;SYNE1,missense_variant,p.Lys186Asn,ENST00000367253,;SYNE1,missense_variant,p.Lys186Asn,ENST00000413186,;SYNE1,missense_variant,p.Lys186Asn,ENST00000537750,;SYNE1,missense_variant,p.Lys186Asn,ENST00000466159,;SYNE1,missense_variant,p.Lys176Asn,ENST00000610489,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	A	ENST00000367255	Transcript	missense_variant	1160/27748	558/26394	186/8797	K/N	aaG/aaT		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			8/146		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	152510216	152510216	C	A	1	0	0	0	0	1	0	0	0	15837	564	20	2		2	SYNE1	6	152510216	Missense_Mutation	SNP	C	C3N-00217_TP	5773672	152510216	18295763	248	12686											
FNDC1	0	.	GRCh38	chr6	159234010	159234010	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcctccttccaagcggccCctgtcctccaagtcccagca	7	7	8	19	1	0	0	0	0	0	0	5	1	5	0	8	1	3	1	8	1	2	1	rs749069803		C3N-00217_TP	C3N-00217_NB	C	C																c.3498C>A	p.=	p.P1166P	ENST00000297267	11/23	151	123	28	185	185	0	strelka-varscan-mutect	FNDC1,synonymous_variant,p.=,ENST00000297267,NM_032532.2;FNDC1,synonymous_variant,p.=,ENST00000329629,;	A	ENST00000297267	Transcript	synonymous_variant	3698/6552	3498/5685	1166/1894	P	ccC/ccA	rs749069803	1		1	FNDC1	HGNC	HGNC:21184	protein_coding	YES	CCDS47512.1	ENSP00000297267	Q4ZHG4		UPI0000579B80	NM_032532.2			11/23		hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF8																	LOW	1	SNV	1			1										PASS		rs749069803	.												A	2	1	43	159234010	159234010	C	A	1	0	0	0	0	0	0	0	1	5824	610	22	2		2	FNDC1	6	159234010	Silent	SNP	C	C3N-00217_TP	6723794	159234010	11571969	249	12687											
PLG	0	.	GRCh38	chr6	160753040	160753040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtttgttacttggattgaGggagtgatgagaaataatta	13	14	13	1	0	0	3	0	3	0	1	0	6	0	5	0	3	1	2	0	3	4	6	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.2412G>T	p.Glu804Asp	p.E804D	ENST00000308192	19/19	123	94	29	195	195	0	strelka-varscan-mutect	PLG,missense_variant,p.Glu804Asp,ENST00000308192,NM_000301.3;PLG,non_coding_transcript_exon_variant,,ENST00000461414,;PLG,downstream_gene_variant,,ENST00000467466,;RP1-81D8.5,downstream_gene_variant,,ENST00000612111,;	T	ENST00000308192	Transcript	missense_variant	2475/2741	2412/2433	804/810	E/D	gaG/gaT		1		1	PLG	HGNC	HGNC:9071	protein_coding	YES	CCDS5279.1	ENSP00000308938	P00747		UPI000000D8B8	NM_000301.3	tolerated(0.16)		19/19		Gene3D:2.40.10.10,PIRSF_domain:PIRSF001150,PROSITE_profiles:PS50240,hmmpanther:PTHR24261,hmmpanther:PTHR24261:SF2,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	160753040	160753040	G	T	1	0	0	0	0	1	0	0	0	12181	991	35	2		2	PLG	6	160753040	Missense_Mutation	SNP	G	C3N-00217_TP	1519030	160753040	10052939	250	12688											
UNC93A	0	.	GRCh38	chr6	167304060	167304060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctatatagagataaacGtctgtgcctcttaattctgc	12	13	7	9	1	3	1	0	0	3	1	3	2	3	1	1	0	4	1	1	0	7	6	rs372539280		C3N-00217_TP	C3N-00217_NB	G	G																c.767G>T	p.Arg256Leu	p.R256L	ENST00000230256	5/8	223	168	55	308	307	1	strelka-varscan-mutect	UNC93A,missense_variant,p.Arg256Leu,ENST00000230256,NM_018974.3;UNC93A,missense_variant,p.Arg214Leu,ENST00000366829,NM_001143947.1;	T	ENST00000230256	Transcript	missense_variant	942/2116	767/1374	256/457	R/L	cGt/cTt	rs372539280	1		1	UNC93A	HGNC	HGNC:12570	protein_coding	YES	CCDS5300.1	ENSP00000230256	Q86WB7		UPI0000062351	NM_018974.3	deleterious(0)		5/8		Gene3D:1.20.1250.20,hmmpanther:PTHR19444,hmmpanther:PTHR19444:SF14,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		rs372539280	.												T	3	4	43	167304060	167304060	G	T	1	0	0	0	0	1	0	0	0	17522	1145	40	1		1	UNC93A	6	167304060	Missense_Mutation	SNP	G	C3N-00217_TP	6551020	167304060	3501919	251	12689											
INTS1	0	.	GRCh38	chr7	1479506	1479506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggacatcaccagggcaccgCcgtgtggggagctgagcagg	8	5	17	11	2	1	1	1	1	0	0	1	3	1	3	3	5	2	3	3	5	0	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.4253G>T	p.Gly1418Val	p.G1418V	ENST00000404767	31/48	145	117	28	136	135	1	strelka-varscan-mutect	INTS1,missense_variant,p.Gly1418Val,ENST00000404767,NM_001080453.2;INTS1,downstream_gene_variant,,ENST00000468115,;INTS1,upstream_gene_variant,,ENST00000482994,;	A	ENST00000404767	Transcript	missense_variant	4339/6959	4253/6573	1418/2190	G/V	gGc/gTc		1		-1	INTS1	HGNC	HGNC:24555	protein_coding	YES	CCDS47526.1	ENSP00000385722	Q8N201		UPI0000D7211C	NM_001080453.2	tolerated(0.26)		31/48		hmmpanther:PTHR21224:SF1,hmmpanther:PTHR21224,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		rs1415588701	.												A	3	1	43	1479506	1479506	C	A	1	0	0	0	0	1	0	0	0	7677	739	26	2		2	INTS1	7	1479506	Missense_Mutation	SNP	C	C3N-00217_TP		1479506	157866467	252	12690											
RADIL	0	.	GRCh38	chr7	4836426	4836426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcgagtaccgcatggcgtCggggccgggctcctcggggc	4	5	18	14	6	0	0	0	0	0	0	3	1	1	0	3	6	2	3	3	6	1	1	rs3763384		C3N-00217_TP	C3N-00217_NB	C	C																c.715G>A	p.Asp239Asn	p.D239N	ENST00000399583	3/15	114	82	32	159	159	0	strelka-varscan-mutect	RADIL,missense_variant,p.Asp239Asn,ENST00000399583,NM_018059.4;RADIL,missense_variant,p.Asp239Asn,ENST00000445392,;RADIL,upstream_gene_variant,,ENST00000473130,;RADIL,upstream_gene_variant,,ENST00000484211,;	T	ENST00000399583	Transcript	missense_variant	903/3689	715/3228	239/1075	D/N	Gac/Aac	rs3763384	1		-1	RADIL	HGNC	HGNC:22226	protein_coding	YES	CCDS43544.1	ENSP00000382492	Q96JH8		UPI0000E0A787	NM_018059.4	tolerated(0.83)		3/15		hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3																	MODERATE	1	SNV	5			1										PASS		rs3763384	.												T	3	4	43	4836426	4836426	C	T	1	0	0	0	0	1	0	0	0	13158	884	31	1		1	RADIL	7	4836426	Missense_Mutation	SNP	C	C3N-00217_TP	3356920	4836426	154509547	253	12691											
FAM220A	0	.	GRCh38	chr7	6330669	6330669	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaaaacttcccatttcCggcactttttgatggcgtgg	7	14	9	11	2	0	2	0	2	0	0	3	2	3	2	3	3	1	1	3	3	2	4	rs142897377		C3N-00217_TP	C3N-00217_NB	C	C																c.486G>T	p.=	p.P162P	ENST00000313324	2/2	255	195	60	343	341	2	strelka-varscan-mutect	FAM220A,synonymous_variant,p.=,ENST00000313324,NM_001037163.1;FAM220A,synonymous_variant,p.=,ENST00000616824,;FAM220A,downstream_gene_variant,,ENST00000530143,;FAM220A,downstream_gene_variant,,ENST00000524898,;FAM220A,downstream_gene_variant,,ENST00000578372,;FAM220A,downstream_gene_variant,,ENST00000533877,;	A	ENST00000313324	Transcript	synonymous_variant	954/2214	486/780	162/259	P	ccG/ccT	rs142897377	1		-1	FAM220A	HGNC	HGNC:22422	protein_coding	YES	CCDS34599.1	ENSP00000317289	Q7Z4H9		UPI000013F4F0	NM_001037163.1			2/2		Pfam_domain:PF15487,hmmpanther:PTHR31980,hmmpanther:PTHR31980:SF2																	LOW	1	SNV	1			1										PASS		rs142897377	.												A	2	1	43	6330669	6330669	C	A	1	0	0	0	0	0	0	0	1	5413	639	23	1		1	FAM220A	7	6330669	Silent	SNP	C	C3N-00217_TP	1494243	6330669	153015304	254	12692											
DNAH11	0	.	GRCh38	chr7	21571892	21571892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaattttaaatggacaagtCcacgagatgagtgaagaact	16	9	10	6	1	0	4	0	2	0	2	1	6	1	5	1	1	1	1	1	1	6	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1512C>T	p.=	p.V504V	ENST00000409508	8/82	57	44	13	117	117	0	strelka-varscan-mutect	DNAH11,synonymous_variant,p.=,ENST00000409508,NM_001277115.1;DNAH11,synonymous_variant,p.=,ENST00000328843,;DNAH11,synonymous_variant,p.=,ENST00000620169,;DNAH11,downstream_gene_variant,,ENST00000496218,;	T	ENST00000409508	Transcript	synonymous_variant	1543/14167	1512/13551	504/4516	V	gtC/gtT		1		1	DNAH11	HGNC	HGNC:2942	protein_coding	YES	CCDS64602.1	ENSP00000475939	Q96DT5		UPI0002B8CE70	NM_001277115.1			8/82		hmmpanther:PTHR10676:SF263,hmmpanther:PTHR10676,Pfam_domain:PF08385																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	43	21571892	21571892	C	T	1	0	0	0	0	0	0	0	1	4413	842	30	3		3	DNAH11	7	21571892	Silent	SNP	C	C3N-00217_TP	15241223	21571892	137774081	255	12693											
EVX1	0	.	GRCh38	chr7	27243163	27243163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgagaaaatggtgcccCgtggttgcctgagccctcgg	6	7	14	14	4	0	2	0	1	0	1	1	3	0	2	5	3	3	1	5	3	2	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.133C>A	p.Arg45Ser	p.R45S	ENST00000496902	1/3	187	157	30	223	223	0	strelka-varscan-mutect	EVX1,missense_variant,p.Arg45Ser,ENST00000496902,NM_001989.4,NM_001304519.1;EVX1,missense_variant,p.Arg45Ser,ENST00000222761,;EVX1,upstream_gene_variant,,ENST00000580535,;RP1-170O19.17,upstream_gene_variant,,ENST00000523608,;EVX1-AS,intron_variant,,ENST00000519218,;EVX1-AS,intron_variant,,ENST00000517726,;EVX1-AS,upstream_gene_variant,,ENST00000519050,;EVX1,upstream_gene_variant,,ENST00000518886,;	A	ENST00000496902	Transcript	missense_variant	464/2955	133/1224	45/407	R/S	Cgt/Agt		1		1	EVX1	HGNC	HGNC:3506	protein_coding	YES	CCDS5413.1	ENSP00000419266	P49640		UPI000012A2AD	NM_001989.4,NM_001304519.1	tolerated(0.35)		1/3																			MODERATE	1	SNV	1			1										PASS		rs1044643048	.												A	3	1	43	27243163	27243163	C	A	1	0	0	0	0	1	0	0	0	5161	652	23	1		1	EVX1	7	27243163	Missense_Mutation	SNP	C	C3N-00217_TP	5671271	27243163	132102810	256	12694											
ELMO1	0	.	GRCh38	chr7	37222671	37222671	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attaatcactgcaatagtatAggtttggatttcttgatctg	11	17	8	5	0	3	1	1	1	2	0	3	2	3	2	0	2	1	3	0	2	5	7	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.724T>A	p.Tyr242Asn	p.Y242N	ENST00000310758	10/22	108	90	18	177	177	0	strelka-varscan	ELMO1,missense_variant,p.Tyr242Asn,ENST00000310758,NM_001206480.2,NM_014800.10;ELMO1,missense_variant,p.Tyr242Asn,ENST00000442504,NM_001206482.1;ELMO1,missense_variant,p.Tyr242Asn,ENST00000448602,;ELMO1,missense_variant,p.Tyr7Asn,ENST00000433246,;ELMO1,non_coding_transcript_exon_variant,,ENST00000487336,;	T	ENST00000310758	Transcript	missense_variant	1372/4022	724/2184	242/727	Y/N	Tat/Aat		1		-1	ELMO1	HGNC	HGNC:16286	protein_coding	YES	CCDS5449.1	ENSP00000312185	Q92556	A4D1X5	UPI000006F687	NM_001206480.2,NM_014800.10	tolerated(0.54)		10/22		Gene3D:1.25.10.10,Pfam_domain:PF11841,hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF23,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	37222671	37222671	A	T	1	0	0	0	0	1	0	0	0	4899	420	15	4		4	ELMO1	7	37222671	Missense_Mutation	SNP	A	C3N-00217_TP	9979508	37222671	122123302	257	12695											
NPC1L1	0	.	GRCh38	chr7	44539710	44539710	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggctgaatcccactcccCacggcctggccaggctccaa	9	5	10	17	1	0	2	0	1	0	1	3	2	3	2	6	4	0	2	6	4	2	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.687G>T	p.=	p.V229V	ENST00000289547	2/20	91	68	23	127	127	0	strelka-varscan	NPC1L1,synonymous_variant,p.=,ENST00000289547,NM_013389.2;NPC1L1,synonymous_variant,p.=,ENST00000546276,;NPC1L1,synonymous_variant,p.=,ENST00000381160,NM_001101648.1;NPC1L1,synonymous_variant,p.=,ENST00000423141,NM_001300967.1;	A	ENST00000289547	Transcript	synonymous_variant	743/5048	687/4080	229/1359	V	gtG/gtT		1		-1	NPC1L1	HGNC	HGNC:7898	protein_coding	YES	CCDS5491.1	ENSP00000289547	Q9UHC9		UPI000013DF88	NM_013389.2			2/20		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89,Pfam_domain:PF16414																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	43	44539710	44539710	C	A	1	0	0	0	0	0	0	0	1	10619	581	21	2		2	NPC1L1	7	44539710	Silent	SNP	C	C3N-00217_TP	7317039	44539710	114806263	258	12696											
ABCA13	0	.	GRCh38	chr7	48376529	48376529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgattctttttgattcaagCctttattttttgtgtggatg	7	22	8	4	0	2	2	1	2	1	0	2	3	2	3	1	1	1	0	1	1	2	9	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.11292C>A	p.Ser3764Arg	p.S3764R	ENST00000435803	35/62	154	126	28	274	274	0	strelka-varscan	ABCA13,missense_variant,p.Ser3764Arg,ENST00000435803,NM_152701.4;ABCA13,missense_variant,p.Ser1071Arg,ENST00000544596,;ABCA13,non_coding_transcript_exon_variant,,ENST00000611776,;ABCA13,missense_variant,p.Ser30Arg,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;	A	ENST00000435803	Transcript	missense_variant	11316/17184	11292/15177	3764/5058	S/R	agC/agA		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4	tolerated(0.05)		35/62		Transmembrane_helices:TMhelix,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Pfam_domain:PF12698																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	48376529	48376529	C	A	1	0	0	0	0	1	0	0	0	35	738	26	2		2	ABCA13	7	48376529	Missense_Mutation	SNP	C	C3N-00217_TP	3836819	48376529	110969444	259	12697											
ZNF679	0	.	GRCh38	chr7	64266039	64266039	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagcatgggtgagtgtgagGtgcaaaaaggaggttgtaat	14	9	16	2	0	0	2	0	2	0	0	0	3	0	3	0	4	2	4	0	4	4	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.406G>C	p.Val136Leu	p.V136L	ENST00000421025	5/5	114	77	37	336	336	0	strelka-varscan	ZNF679,missense_variant,p.Val136Leu,ENST00000421025,NM_153363.2;ZNF679,missense_variant,p.Val136Leu,ENST00000255746,;	C	ENST00000421025	Transcript	missense_variant	675/1567	406/1236	136/411	V/L	Gtg/Ctg		1		1	ZNF679	HGNC	HGNC:28650	protein_coding	YES	CCDS47592.1	ENSP00000416809	Q8IYX0		UPI000045756A	NM_153363.2	tolerated(0.16)		5/5		hmmpanther:PTHR24384:SF91,hmmpanther:PTHR24384																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	64266039	64266039	G	C	1	0	0	0	0	1	0	0	0	18659	1261	44	4		4	ZNF679	7	64266039	Missense_Mutation	SNP	G	C3N-00217_TP	15889510	64266039	95079934	260	12698											
PCLO	0	.	GRCh38	chr7	82953104	82953104	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactacagaaaacacaggttCaacagaaaccagatctttgg	18	7	7	9	0	2	3	1	0	1	3	2	3	2	3	1	2	5	1	1	2	6	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.7849G>T	p.Glu2617Ter	p.E2617*	ENST00000333891	5/25	148	94	54	182	182	0	strelka-varscan	PCLO,stop_gained,p.Glu2617Ter,ENST00000333891,NM_033026.5;PCLO,stop_gained,p.Glu2617Ter,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	A	ENST00000333891	Transcript	stop_gained	8187/20329	7849/15429	2617/5142	E/*	Gaa/Taa		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5			5/25		Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	43	82953104	82953104	C	A	1	0	0	0	0	0	1	0	0	11671	835	29	2		2	PCLO	7	82953104	Nonsense_Mutation	SNP	C	C3N-00217_TP	18687065	82953104	76392869	261	12699											
SEMA3E	0	.	GRCh38	chr7	83367650	83367650	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacggagcttcttttccTgagggttggcatacttccac	7	13	11	10	1	1	1	0	1	1	0	3	3	3	3	2	4	3	3	2	4	2	6			C3N-00217_TP	C3N-00217_NB	T	T																c.2264A>T	p.Gln755Leu	p.Q755L	ENST00000307792	17/17	265	157	108	273	273	0	strelka-varscan	SEMA3E,missense_variant,p.Gln755Leu,ENST00000307792,NM_012431.2;SEMA3E,missense_variant,p.Gln695Leu,ENST00000427262,NM_001178129.1;	A	ENST00000307792	Transcript	missense_variant	2732/6476	2264/2328	755/775	Q/L	cAg/cTg	COSM323254	1		-1	SEMA3E	HGNC	HGNC:10727	protein_coding	YES	CCDS34674.1	ENSP00000303212	O15041		UPI0000135A68	NM_012431.2	tolerated(0.32)		17/17		hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	43	83367650	83367650	T	A	1	0	0	0	0	1	0	0	0	14304	1580	55	4		4	SEMA3E	7	83367650	Missense_Mutation	SNP	T	C3N-00217_TP	414546	83367650	75978323	262	12700											
ZNF804B	0	.	GRCh38	chr7	89335031	89335031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagagtaaccacatcagCatgaccagcaaggtttccgg	13	8	10	10	1	1	3	1	2	0	1	2	3	2	3	3	2	3	4	3	2	3	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2049C>A	p.Ser683Arg	p.S683R	ENST00000333190	4/4	123	102	21	200	200	0	strelka-varscan	ZNF804B,missense_variant,p.Ser683Arg,ENST00000333190,NM_181646.3;ZNF804B,missense_variant,p.Ser600Arg,ENST00000611114,;	A	ENST00000333190	Transcript	missense_variant	2658/4659	2049/4050	683/1349	S/R	agC/agA		1		1	ZNF804B	HGNC	HGNC:21958	protein_coding	YES	CCDS5613.1	ENSP00000329638	A4D1E1		UPI00001A92D2	NM_181646.3	tolerated(0.1)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	89335031	89335031	C	A	1	0	0	0	0	1	0	0	0	18756	709	25	2		2	ZNF804B	7	89335031	Missense_Mutation	SNP	C	C3N-00217_TP	5967381	89335031	70010942	263	12701											
SAMD9	0	.	GRCh38	chr7	93105020	93105020	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatctgctttaaatgctcTgaaatcaactttatttttcg	13	17	4	7	1	3	1	1	1	2	0	4	1	3	1	0	0	3	2	0	0	7	6	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.1078A>G	p.Arg360Gly	p.R360G	ENST00000379958	3/3	130	102	28	236	235	1	strelka-varscan	SAMD9,missense_variant,p.Arg360Gly,ENST00000379958,NM_017654.3;SAMD9,missense_variant,p.Arg360Gly,ENST00000620985,NM_001193307.1;SAMD9,missense_variant,p.Arg360Gly,ENST00000446617,;	C	ENST00000379958	Transcript	missense_variant	1348/6852	1078/4770	360/1589	R/G	Aga/Gga		1		-1	SAMD9	HGNC	HGNC:1348	protein_coding	YES	CCDS34680.1	ENSP00000369292	Q5K651		UPI0000038BC6	NM_017654.3	tolerated(0.05)		3/3		hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	93105020	93105020	T	C	1	0	0	0	0	1	0	0	0	14086	1588	55	5		5	SAMD9	7	93105020	Missense_Mutation	SNP	T	C3N-00217_TP	3769989	93105020	66240953	264	12702											
MUC17	0	.	GRCh38	chr7	101037957	101037957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttctgcaatcagcaccCtttcaacaactcctgttgac	10	11	5	15	0	3	1	2	1	1	0	4	1	4	1	3	0	4	4	3	0	3	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.6541C>A	p.Leu2181Ile	p.L2181I	ENST00000306151	3/13	69	43	26	95	95	0	strelka-varscan	MUC17,missense_variant,p.Leu2181Ile,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Leu2181Ile,ENST00000379439,;	A	ENST00000306151	Transcript	missense_variant	6605/14247	6541/13482	2181/4493	L/I	Ctt/Att		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	tolerated(0.28)		3/13		Low_complexity_(Seg):seg,hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	101037957	101037957	C	A	1	0	0	0	0	1	0	0	0	9973	681	24	2		2	MUC17	7	101037957	Missense_Mutation	SNP	C	C3N-00217_TP	7932937	101037957	58308016	265	12703											
MUC17	0	.	GRCh38	chr7	101040965	101040965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcagttctgaggatagcacCctttcagcaactcctgttga	9	12	9	11	0	3	2	2	2	1	0	4	3	4	3	2	1	3	4	2	1	2	4	rs750778755		C3N-00217_TP	C3N-00217_NB	C	C																c.9549C>T	p.=	p.T3183T	ENST00000306151	3/13	122	71	51	133	133	0	strelka-varscan	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,synonymous_variant,p.=,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	T	ENST00000306151	Transcript	synonymous_variant	9613/14247	9549/13482	3183/4493	T	acC/acT	rs750778755,COSM1330226	1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1			3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												T	2	4	43	101040965	101040965	C	T	1	0	0	0	0	0	0	0	1	9973	610	22	3		3	MUC17	7	101040965	Silent	SNP	C	C3N-00217_TP	3008	101040965	58305008	266	12704											
RELN	0	.	GRCh38	chr7	103635429	103635429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgctttccaacatacctggGctcatgatagctgagatatg	11	12	9	9	0	1	2	1	2	0	1	2	3	2	2	2	1	4	3	2	1	4	4			C3N-00217_TP	C3N-00217_NB	G	G																c.2461C>G	p.Pro821Ala	p.P821A	ENST00000428762	19/65	140	82	58	207	207	0	strelka-varscan	RELN,missense_variant,p.Pro821Ala,ENST00000424685,;RELN,missense_variant,p.Pro821Ala,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Pro821Ala,ENST00000343529,NM_173054.2;	C	ENST00000428762	Transcript	missense_variant	2621/11571	2461/10383	821/3460	P/A	Ccc/Gcc	COSM598294	1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3	deleterious(0.04)		19/65		hmmpanther:PTHR11841,Gene3D:2.120.10.10,Superfamily_domains:SSF50939											1						MODERATE	1	SNV	5		1	1										PASS		.	.												C	3	2	43	103635429	103635429	G	C	1	0	0	0	0	1	0	0	0	13390	1217	42	4		4	RELN	7	103635429	Missense_Mutation	SNP	G	C3N-00217_TP	2594464	103635429	55710544	267	12705											
NAMPT	0	.	GRCh38	chr7	106268471	106268471	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaattttttacctgtgttCtgctgctggaacagaatagc	10	14	9	8	0	1	2	0	0	1	2	1	3	1	3	1	1	5	3	1	1	5	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.736G>T	p.Glu246Ter	p.E246*	ENST00000222553	6/11	65	38	27	98	98	0	strelka-varscan	NAMPT,stop_gained,p.Glu246Ter,ENST00000222553,NM_005746.2;NAMPT,stop_gained,p.Glu246Ter,ENST00000354289,;NAMPT,non_coding_transcript_exon_variant,,ENST00000467730,;NAMPT,downstream_gene_variant,,ENST00000484527,;NAMPT,downstream_gene_variant,,ENST00000393618,;NAMPT,downstream_gene_variant,,ENST00000441045,;NAMPT,downstream_gene_variant,,ENST00000489358,;NAMPT,non_coding_transcript_exon_variant,,ENST00000491027,;NAMPT,downstream_gene_variant,,ENST00000486949,;	A	ENST00000222553	Transcript	stop_gained	1044/4582	736/1476	246/491	E/*	Gaa/Taa		1		-1	NAMPT	HGNC	HGNC:30092	protein_coding	YES	CCDS5737.1	ENSP00000222553	P43490	A0A024R718	UPI0000131383	NM_005746.2			6/11		Gene3D:3.20.140.10,Pfam_domain:PF04095,PIRSF_domain:PIRSF005943,hmmpanther:PTHR11098,hmmpanther:PTHR11098:SF15,Superfamily_domains:SSF51690																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	43	106268471	106268471	C	A	1	0	0	0	0	0	1	0	0	10156	922	32	2		2	NAMPT	7	106268471	Nonsense_Mutation	SNP	C	C3N-00217_TP	2633042	106268471	53077502	268	12706											
PTPRZ1	0	.	GRCh38	chr7	122012505	122012505	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcagagccagcatcctcTgaccctgcttctagtgaaat	11	10	7	13	0	3	3	1	2	2	1	4	3	4	3	3	0	4	2	3	0	3	2	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.3459T>A	p.=	p.S1153S	ENST00000393386	12/30	131	103	28	160	160	0	strelka-varscan	PTPRZ1,synonymous_variant,p.=,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,intron_variant,,ENST00000449182,NM_001206839.1;PTPRZ1,intron_variant,,ENST00000483028,;	A	ENST00000393386	Transcript	synonymous_variant	3870/8175	3459/6948	1153/2315	S	tcT/tcA		1		1	PTPRZ1	HGNC	HGNC:9685	protein_coding	YES	CCDS34740.1	ENSP00000377047	P23471		UPI000020F9BB	NM_001206838.1,NM_002851.2			12/30		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	43	122012505	122012505	T	A	1	0	0	0	0	0	0	0	1	12969	1567	55	4		4	PTPRZ1	7	122012505	Silent	SNP	T	C3N-00217_TP	15744034	122012505	37333468	269	12707											
TAS2R16	0	.	GRCh38	chr7	122995500	122995500	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgatgagaatcatgtcCacaggcatcagccttctgac	11	9	10	11	0	3	3	2	3	1	1	4	4	4	3	2	2	1	2	2	2	1	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.135G>A	p.=	p.V45V	ENST00000249284	1/1	102	61	41	105	105	0	strelka-varscan	TAS2R16,synonymous_variant,p.=,ENST00000249284,NM_016945.2;	T	ENST00000249284	Transcript	synonymous_variant	201/997	135/876	45/291	V	gtG/gtA		1		-1	TAS2R16	HGNC	HGNC:14921	protein_coding	YES	CCDS5785.1	ENSP00000249284	Q9NYV7		UPI0000038B18	NM_016945.2			1/1		Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF68,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	43	122995500	122995500	C	T	1	0	0	0	0	0	0	0	1	15968	581	21	3		3	TAS2R16	7	122995500	Silent	SNP	C	C3N-00217_TP	982995	122995500	36350473	270	12708											
GRM8	0	.	GRCh38	chr7	126533502	126533502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataacagagaaaaatccccGttaggagcacgtaactaagt	18	7	8	8	2	0	1	0	0	0	1	1	3	1	2	2	1	3	3	2	1	7	4	rs142400397		C3N-00217_TP	C3N-00217_NB	G	G																c.1880C>A	p.Thr627Lys	p.T627K	ENST00000339582	9/11	214	132	82	258	257	1	strelka-varscan	GRM8,missense_variant,p.Thr627Lys,ENST00000339582,NM_000845.2;GRM8,missense_variant,p.Thr627Lys,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Thr135Lys,ENST00000444921,;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,missense_variant,p.Thr627Lys,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	T	ENST00000339582	Transcript	missense_variant	2689/4057	1880/2727	627/908	T/K	aCg/aAg	rs142400397,COSM2768128,COSM4359498	1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2	tolerated(0.1)		9/11		Pfam_domain:PF00003,Prints_domain:PR00248,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Transmembrane_helices:TMhelix											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		.	.												T	3	4	43	126533502	126533502	G	T	1	0	0	0	0	1	0	0	0	6685	1145	40	1		1	GRM8	7	126533502	Missense_Mutation	SNP	G	C3N-00217_TP	3538002	126533502	32812471	271	12709											
FLNC	0	.	GRCh38	chr7	128853750	128853750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtgaccggcgagggcCgcatgaaggagagcatcacc	11	4	16	10	3	1	4	1	3	0	1	1	6	1	4	3	4	1	2	3	4	2	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.6397C>A	p.Arg2133Ser	p.R2133S	ENST00000325888	39/48	577	486	91	387	386	1	strelka-varscan	FLNC,missense_variant,p.Arg2133Ser,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Arg2100Ser,ENST00000346177,NM_001127487.1;RP11-309L24.2,intron_variant,,ENST00000469965,;	A	ENST00000325888	Transcript	missense_variant	6658/9188	6397/8178	2133/2725	R/S	Cgc/Agc		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4	deleterious(0.01)		39/48		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	128853750	128853750	C	A	1	0	0	0	0	1	0	0	0	5791	652	23	1		1	FLNC	7	128853750	Missense_Mutation	SNP	C	C3N-00217_TP	2320248	128853750	30492223	272	12710											
FLNC	0	.	GRCh38	chr7	128856846	128856846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcccttcaagatccgcGttggggagcagagccaggct	9	7	14	11	2	1	2	1	0	0	2	3	4	3	3	3	3	2	3	3	3	2	2	rs200295337		C3N-00217_TP	C3N-00217_NB	G	G																c.7486G>T	p.Val2496Phe	p.V2496F	ENST00000325888	45/48	348	190	158	300	300	0	strelka-varscan	FLNC,missense_variant,p.Val2496Phe,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Val2463Phe,ENST00000346177,NM_001127487.1;RP11-309L24.2,intron_variant,,ENST00000469965,;	T	ENST00000325888	Transcript	missense_variant	7747/9188	7486/8178	2496/2725	V/F	Gtt/Ttt	rs200295337	1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4	deleterious(0)		45/48		Gene3D:2.60.40.10,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	128856846	128856846	G	T	1	0	0	0	0	1	0	0	0	5791	1145	40	1		1	FLNC	7	128856846	Missense_Mutation	SNP	G	C3N-00217_TP	3096	128856846	30489127	273	12711											
TSGA13	0	.	GRCh38	chr7	130669071	130669071	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggccctcccgttgcggaaGgcgctctccccgggcgcggt	2	6	17	16	6	1	0	0	0	1	0	3	1	2	1	4	6	1	2	4	6	1	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.771C>A	p.=	p.A257A	ENST00000456951	9/9	282	242	40	203	203	0	strelka-varscan	TSGA13,synonymous_variant,p.=,ENST00000456951,NM_001304968.1;TSGA13,synonymous_variant,p.=,ENST00000356588,NM_052933.3;COPG2,upstream_gene_variant,,ENST00000425248,NM_012133.5;COPG2,upstream_gene_variant,,ENST00000330992,NM_001290033.1;	T	ENST00000456951	Transcript	synonymous_variant	1623/2046	771/828	257/275	A	gcC/gcA		1		-1	TSGA13	HGNC	HGNC:12369	protein_coding	YES	CCDS5824.1	ENSP00000406047	Q96PP4	A0A024R769	UPI0000073CFB	NM_001304968.1			9/9		Pfam_domain:PF14994,hmmpanther:PTHR37352																	LOW		SNV	2			1										PASS		.	.												T	2	4	43	130669071	130669071	G	T	1	0	0	0	0	0	0	0	1	17125	987	35	2		2	TSGA13	7	130669071	Silent	SNP	G	C3N-00217_TP	1812225	130669071	28676902	274	12712											
DGKI	0	.	GRCh38	chr7	137552431	137552431	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgttggcctgattcctCagggagatccgaatcatagc	10	10	10	11	1	2	2	2	1	0	1	4	4	4	2	4	2	1	1	4	2	2	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2085G>T	p.=	p.L695L	ENST00000288490	20/34	302	260	42	275	275	0	strelka-varscan	DGKI,synonymous_variant,p.=,ENST00000453654,;DGKI,synonymous_variant,p.=,ENST00000424189,;DGKI,synonymous_variant,p.=,ENST00000446122,;DGKI,synonymous_variant,p.=,ENST00000288490,NM_004717.2;DGKI,synonymous_variant,p.=,ENST00000614521,;DGKI,non_coding_transcript_exon_variant,,ENST00000460662,;	A	ENST00000288490	Transcript	synonymous_variant	2086/3895	2085/3198	695/1065	L	ctG/ctT		1		-1	DGKI	HGNC	HGNC:2855	protein_coding	YES	CCDS5845.1	ENSP00000288490	O75912		UPI000012DD23	NM_004717.2			20/34		hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF41,Superfamily_domains:SSF111331																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	43	137552431	137552431	C	A	1	0	0	0	0	0	0	0	1	4277	813	29	2		2	DGKI	7	137552431	Silent	SNP	C	C3N-00217_TP	6883360	137552431	21793542	275	12713											
PRSS37	0	.	GRCh38	chr7	141836519	141836519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtctttgcagatgacaGtagcaacggccacctcctac	9	10	9	13	1	1	2	0	1	1	1	2	2	2	2	3	1	4	4	3	1	3	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.584C>A	p.Thr195Asn	p.T195N	ENST00000350549	5/5	161	91	70	137	137	0	strelka-varscan	PRSS37,missense_variant,p.Thr195Asn,ENST00000350549,NM_001008270.2,NM_001171951.1;PRSS37,missense_variant,p.Thr195Asn,ENST00000438520,;PRSS37,3_prime_UTR_variant,,ENST00000419085,;PRSS37,3_prime_UTR_variant,,ENST00000452758,;	T	ENST00000350549	Transcript	missense_variant	956/1189	584/708	195/235	T/N	aCt/aAt		1		-1	PRSS37	HGNC	HGNC:29211	protein_coding	YES	CCDS34764.1	ENSP00000297767	A4D1T9		UPI000004223A	NM_001008270.2,NM_001171951.1	deleterious(0)		5/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF244,hmmpanther:PTHR24256,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	141836519	141836519	G	T	1	0	0	0	0	1	0	0	0	12773	1029	36	2		2	PRSS37	7	141836519	Missense_Mutation	SNP	G	C3N-00217_TP	4284088	141836519	17509454	276	12714											
MGAM2	0	.	GRCh38	chr7	142133981	142133981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacttaccccatggcccagGttggacacgagcatcgggcc	8	7	11	15	2	0	0	0	0	0	0	1	2	0	1	4	4	3	2	4	4	2	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.576G>T	p.Leu192Phe	p.L192F	ENST00000477922	7/48	76	40	36	60	60	0	strelka-varscan	MGAM2,missense_variant,p.Leu192Phe,ENST00000477922,NM_001293626.1;MGAM2,missense_variant,p.Leu192Phe,ENST00000550469,;	T	ENST00000477922	Transcript	missense_variant,splice_region_variant	630/7867	576/7548	192/2515	L/F	ttG/ttT		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	deleterious(0.02)		7/48		Pfam_domain:PF16863,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF55,Superfamily_domains:SSF74650																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	142133981	142133981	G	T	1	0	0	0	0	1	0	0	0	9500	1275	44	2		2	MGAM2	7	142133981	Missense_Mutation	SNP	G	C3N-00217_TP	297462	142133981	17211992	277	12715											
GIMAP4	0	.	GRCh38	chr7	150569942	150569942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgagcttcaaccccagcaCaccaggggccagttatggtg	10	8	11	12	0	1	1	1	1	0	0	1	1	1	1	4	3	3	3	4	3	3	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.41C>A	p.Thr14Lys	p.T14K	ENST00000255945	2/3	203	132	71	211	211	0	strelka-varscan	GIMAP4,missense_variant,p.Thr14Lys,ENST00000255945,NM_018326.2;GIMAP4,missense_variant,p.Thr14Lys,ENST00000461940,;GIMAP4,missense_variant,p.Thr14Lys,ENST00000479232,;GIMAP4,non_coding_transcript_exon_variant,,ENST00000478135,;GIMAP4,intron_variant,,ENST00000494750,;	A	ENST00000255945	Transcript	missense_variant	216/2060	41/990	14/329	T/K	aCa/aAa		1		1	GIMAP4	HGNC	HGNC:21872	protein_coding	YES	CCDS5904.1	ENSP00000255945	Q9NUV9	A0A090N7X0	UPI0000073CB0	NM_018326.2	tolerated(0.88)		2/3		hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF57																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	150569942	150569942	C	A	1	0	0	0	0	1	0	0	0	6261	478	17	2		2	GIMAP4	7	150569942	Missense_Mutation	SNP	C	C3N-00217_TP	8435961	150569942	8776031	278	12716											
GIMAP4	0	.	GRCh38	chr7	150572913	150572913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagaagcaaatggagaaGaaactagcagaacaggaggc	21	2	13	5	0	0	5	0	0	0	5	0	7	0	6	0	3	4	2	0	3	7	1			C3N-00217_TP	C3N-00217_NB	G	G																c.843G>T	p.Lys281Asn	p.K281N	ENST00000255945	3/3	255	212	43	302	302	0	strelka-varscan	GIMAP4,missense_variant,p.Lys281Asn,ENST00000255945,NM_018326.2;GIMAP4,missense_variant,p.Lys295Asn,ENST00000461940,;GIMAP4,downstream_gene_variant,,ENST00000479232,;GIMAP4,non_coding_transcript_exon_variant,,ENST00000494750,;GIMAP4,downstream_gene_variant,,ENST00000478135,;	T	ENST00000255945	Transcript	missense_variant	1018/2060	843/990	281/329	K/N	aaG/aaT	COSM1087241,COSM3636026	1		1	GIMAP4	HGNC	HGNC:21872	protein_coding	YES	CCDS5904.1	ENSP00000255945	Q9NUV9	A0A090N7X0	UPI0000073CB0	NM_018326.2	deleterious(0.04)		3/3		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF57,Low_complexity_(Seg):seg											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	43	150572913	150572913	G	T	1	0	0	0	0	1	0	0	0	6261	933	33	2		2	GIMAP4	7	150572913	Missense_Mutation	SNP	G	C3N-00217_TP	2971	150572913	8773060	279	12717											
DLGAP2	0	.	GRCh38	chr8	1668331	1668331	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttcttttcttacagctGtctcatatacaaattacaag	12	16	4	9	0	3	0	1	0	3	0	4	1	3	0	0	0	4	1	0	0	6	7	rs376920234		C3N-00217_TP	C3N-00217_NB	G	G																c.1573G>C	p.Val525Leu	p.V525L	ENST00000612087	6/11	17	5	12	36	36	0	strelka-varscan-mutect	DLGAP2,missense_variant,p.Val525Leu,ENST00000612087,NM_001277161.1;DLGAP2,missense_variant,p.Val542Leu,ENST00000520901,;DLGAP2,missense_variant,p.Val605Leu,ENST00000637795,;DLGAP2,missense_variant,p.Val604Leu,ENST00000421627,;DLGAP2,missense_variant,p.Val525Leu,ENST00000637152,NM_004745.4;	C	ENST00000612087	Transcript	missense_variant,splice_region_variant	1707/10088	1573/2886	525/961	V/L	Gtc/Ctc	rs376920234	1		1	DLGAP2	HGNC	HGNC:2906	protein_coding	YES	CCDS75689.1	ENSP00000484215		H0YBY6	UPI0002B8CE71	NM_001277161.1	tolerated(0.67)		6/11		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3																	MODERATE	1	SNV	5			1										PASS		rs376920234	.												C	3	2	43	1668331	1668331	G	C	1	0	0	0	0	1	0	0	0	4367	1391	48	4		4	DLGAP2	8	1668331	Missense_Mutation	SNP	G	C3N-00217_TP		1668331	143470305	280	12718											
CSMD1	0	.	GRCh38	chr8	2974607	2974607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgttggcagggacccctgGgtgtccacacgatatagctt	7	9	14	11	2	0	0	0	0	0	0	1	2	1	1	3	4	1	3	3	4	2	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.8587C>T	p.Pro2863Ser	p.P2863S	ENST00000520002	57/71	113	82	31	114	114	0	strelka-mutect	CSMD1,missense_variant,p.Pro2724Ser,ENST00000537824,;CSMD1,missense_variant,p.Pro2280Ser,ENST00000335551,;CSMD1,missense_variant,p.Pro2863Ser,ENST00000520002,;CSMD1,missense_variant,p.Pro2863Ser,ENST00000602557,;CSMD1,missense_variant,p.Pro2862Ser,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Pro2805Ser,ENST00000400186,;CSMD1,missense_variant,p.Pro2805Ser,ENST00000602723,;	A	ENST00000520002	Transcript	missense_variant	9143/11740	8587/10698	2863/3565	P/S	Cca/Tca		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0.01)		57/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	43	2974607	2974607	G	A	1	0	0	0	0	1	0	0	0	3745	1232	43	3		3	CSMD1	8	2974607	Missense_Mutation	SNP	G	C3N-00217_TP	1306276	2974607	142164029	281	12719											
CSMD1	0	.	GRCh38	chr8	3108607	3108607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgaaaatcaactgaccgtgGaaattgaggacaaagaagcc	17	6	11	7	1	1	4	1	3	0	1	1	6	1	6	2	2	2	0	2	2	6	1	rs752350985		C3N-00217_TP	C3N-00217_NB	G	G																c.6753C>A	p.Phe2251Leu	p.F2251L	ENST00000520002	45/71	124	91	33	128	128	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Phe2112Leu,ENST00000537824,;CSMD1,missense_variant,p.Phe1731Leu,ENST00000335551,;CSMD1,missense_variant,p.Phe2251Leu,ENST00000520002,;CSMD1,missense_variant,p.Phe2251Leu,ENST00000602557,;CSMD1,missense_variant,p.Phe2250Leu,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Phe2251Leu,ENST00000400186,;CSMD1,missense_variant,p.Phe2251Leu,ENST00000602723,;CSMD1,downstream_gene_variant,,ENST00000520561,;CSMD1,upstream_gene_variant,,ENST00000523062,;	T	ENST00000520002	Transcript	missense_variant	7309/11740	6753/10698	2251/3565	F/L	ttC/ttA	rs752350985,COSM4674958,COSM4674959	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0.01)		45/71		PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs752350985	.												T	3	4	43	3108607	3108607	G	T	1	0	0	0	0	1	0	0	0	3745	1188	41	2		2	CSMD1	8	3108607	Missense_Mutation	SNP	G	C3N-00217_TP	134000	3108607	142030029	282	12720											
UNC5D	0	.	GRCh38	chr8	35568097	35568097	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttatctctcccaccatcaGgtttgaaggtccgcgaagtg	8	12	9	12	2	3	1	1	1	2	0	6	2	5	1	3	2	0	1	3	2	3	2			C3N-00217_TP	C3N-00217_NB	G	G																c.323-1G>C		p.X108_splice	ENST00000404895		105	82	23	107	107	0	strelka-varscan	UNC5D,splice_acceptor_variant,,ENST00000287272,;UNC5D,splice_acceptor_variant,,ENST00000453357,;UNC5D,splice_acceptor_variant,,ENST00000416672,;UNC5D,splice_acceptor_variant,,ENST00000404895,NM_080872.2;UNC5D,splice_acceptor_variant,,ENST00000420357,;	C	ENST00000404895	Transcript	splice_acceptor_variant	-/3252	323/2862	108/953			COSM3648614,COSM3648615	1		1	UNC5D	HGNC	HGNC:18634	protein_coding	YES	CCDS6093.2	ENSP00000385143	Q6UXZ4		UPI00001D6915	NM_080872.2				2/16												1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												C	5	2	43	35568097	35568097	G	C	1	0	0	0	0	0	0	1	0	17519	1014	35	4		4	UNC5D	8	35568097	Splice_Site	SNP	G	C3N-00217_TP	32459490	35568097	109570539	283	12721											
UNC5D	0	.	GRCh38	chr8	35568163	35568163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggaggacttccatgggcccGaggactattggtgccagtgt	7	10	15	9	1	0	0	0	0	0	0	1	4	1	3	3	5	1	0	3	5	1	3	rs758449590		C3N-00217_TP	C3N-00217_NB	G	G																c.388G>C	p.Glu130Gln	p.E130Q	ENST00000404895	3/17	228	172	56	199	199	0	strelka-varscan	UNC5D,missense_variant,p.Glu130Gln,ENST00000287272,;UNC5D,missense_variant,p.Glu125Gln,ENST00000453357,;UNC5D,missense_variant,p.Glu130Gln,ENST00000416672,;UNC5D,missense_variant,p.Glu130Gln,ENST00000404895,NM_080872.2;UNC5D,missense_variant,p.Glu130Gln,ENST00000420357,;	C	ENST00000404895	Transcript	missense_variant	716/3252	388/2862	130/953	E/Q	Gag/Cag	rs758449590	1		1	UNC5D	HGNC	HGNC:18634	protein_coding	YES	CCDS6093.2	ENSP00000385143	Q6UXZ4		UPI00001D6915	NM_080872.2	deleterious(0)		3/17		Gene3D:2.60.40.10,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF5,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	35568163	35568163	G	C	1	0	0	0	0	1	0	0	0	17519	1059	37	4		4	UNC5D	8	35568163	Missense_Mutation	SNP	G	C3N-00217_TP	66	35568163	109570473	284	12722											
ADGRA2	0	.	GRCh38	chr8	37834032	37834032	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgagcacctgctgtggctGgcccagcgcgaggacaaggc	8	4	16	13	3	0	0	0	0	0	0	0	4	0	1	2	4	3	3	2	4	1	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1512G>T	p.=	p.L504L	ENST00000412232	11/19	823	770	53	118	118	0	strelka-varscan	ADGRA2,synonymous_variant,p.=,ENST00000315215,;ADGRA2,synonymous_variant,p.=,ENST00000412232,NM_032777.9;ADGRA2,downstream_gene_variant,,ENST00000428068,;	T	ENST00000412232	Transcript	synonymous_variant	1525/5651	1512/4017	504/1338	L	ctG/ctT		1		1	ADGRA2	HGNC	HGNC:17849	protein_coding	YES	CCDS6097.2	ENSP00000406367	Q96PE1		UPI00004AE50D	NM_032777.9			11/19		hmmpanther:PTHR12011:SF33,hmmpanther:PTHR12011																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	37834032	37834032	G	T	1	0	0	0	0	0	0	0	1	353	1335	47	2		2	ADGRA2	8	37834032	Silent	SNP	G	C3N-00217_TP	2265869	37834032	107304604	285	12723											
XKR4	0	.	GRCh38	chr8	55102759	55102759	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggcccgggcggcggcgggGcgggctcggctgcgctgtgc	0	4	22	15	8	0	0	0	0	0	0	1	0	0	0	2	8	2	3	2	8	0	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.271G>C	p.Ala91Pro	p.A91P	ENST00000327381	1/3	60	45	15	31	31	0	strelka-varscan	XKR4,missense_variant,p.Ala91Pro,ENST00000327381,NM_052898.1;XKR4,missense_variant,p.Ala91Pro,ENST00000622811,;	C	ENST00000327381	Transcript	missense_variant	371/19880	271/1953	91/650	A/P	Gcg/Ccg		1		1	XKR4	HGNC	HGNC:29394	protein_coding	YES	CCDS34893.1	ENSP00000328326	Q5GH76		UPI000016098C	NM_052898.1	tolerated(0.32)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	55102759	55102759	G	C	1	0	0	0	0	1	0	0	0	17992	1203	42	4		4	XKR4	8	55102759	Missense_Mutation	SNP	G	C3N-00217_TP	17268727	55102759	90035877	286	12724											
CLVS1	0	.	GRCh38	chr8	61376718	61376718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatagactggagtaatttttCcttcaaacaagcctccaaac	14	12	5	10	0	1	1	1	0	0	1	3	2	3	2	3	1	3	1	3	1	6	6			C3N-00217_TP	C3N-00217_NB	C	C																c.569C>T	p.Ser190Phe	p.S190F	ENST00000519846	4/7	192	175	17	135	135	0	strelka-varscan	CLVS1,missense_variant,p.Ser190Phe,ENST00000519846,;CLVS1,missense_variant,p.Ser190Phe,ENST00000325897,NM_173519.2;CLVS1,5_prime_UTR_variant,,ENST00000518592,;CLVS1,5_prime_UTR_variant,,ENST00000524095,;CLVS1,5_prime_UTR_variant,,ENST00000520712,;CLVS1,non_coding_transcript_exon_variant,,ENST00000521189,;	T	ENST00000519846	Transcript	missense_variant	1041/3622	569/1065	190/354	S/F	tCc/tTc	COSM4500599	1		1	CLVS1	HGNC	HGNC:23139	protein_coding	YES	CCDS6176.1	ENSP00000428402	Q8IUQ0		UPI000007472D		deleterious(0)		4/7		Gene3D:3.40.525.10,Pfam_domain:PF00650,PROSITE_profiles:PS50191,hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF72,SMART_domains:SM00516,Superfamily_domains:SSF52087											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	43	61376718	61376718	C	T	1	0	0	0	0	1	0	0	0	3344	855	30	3		3	CLVS1	8	61376718	Missense_Mutation	SNP	C	C3N-00217_TP	6273959	61376718	83761918	287	12725											
C8orf46	0	.	GRCh38	chr8	66505419	66505419	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcaccagcccctggagctGctgccccaccgcggagaccg	7	3	12	19	4	0	1	0	0	0	1	0	3	0	2	7	2	4	3	7	2	0	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.171G>T	p.=	p.L57L	ENST00000305454	3/6	128	107	21	78	78	0	strelka-varscan	C8orf46,synonymous_variant,p.=,ENST00000305454,NM_152765.3;C8orf46,synonymous_variant,p.=,ENST00000522977,;C8orf46,synonymous_variant,p.=,ENST00000480005,;C8orf46,synonymous_variant,p.=,ENST00000521495,;RNU6-1324P,upstream_gene_variant,,ENST00000384222,;C8orf46,non_coding_transcript_exon_variant,,ENST00000482608,;C8orf46,non_coding_transcript_exon_variant,,ENST00000519702,;C8orf46,non_coding_transcript_exon_variant,,ENST00000485639,;C8orf46,non_coding_transcript_exon_variant,,ENST00000470796,;C8orf46,downstream_gene_variant,,ENST00000521813,;C8orf46,3_prime_UTR_variant,,ENST00000460144,;C8orf46,3_prime_UTR_variant,,ENST00000450307,;C8orf46,non_coding_transcript_exon_variant,,ENST00000484919,;	T	ENST00000305454	Transcript	synonymous_variant	612/3513	171/624	57/207	L	ctG/ctT		1		1	C8orf46	HGNC	HGNC:28498	protein_coding	YES	CCDS6191.2	ENSP00000302260	Q8TAG6		UPI00003750A4	NM_152765.3			3/6		Pfam_domain:PF15505,hmmpanther:PTHR31520																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	66505419	66505419	G	T	1	0	0	0	0	0	0	0	1	2159	1306	46	2		2	C8orf46	8	66505419	Silent	SNP	G	C3N-00217_TP	5128701	66505419	78633217	288	12726											
TRPA1	0	.	GRCh38	chr8	72057783	72057783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaatataagtggagagcGtccttcagaatcgatcttat	12	13	9	7	2	2	2	1	0	1	2	4	4	3	2	1	1	2	1	1	1	5	5	rs372548303		C3N-00217_TP	C3N-00217_NB	G	G																c.1027C>A	p.Arg343Ser	p.R343S	ENST00000262209	9/27	330	177	153	265	265	0	strelka-varscan	TRPA1,missense_variant,p.Arg343Ser,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Arg195Ser,ENST00000523582,;MSC-AS1,intron_variant,,ENST00000518916,;MSC-AS1,intron_variant,,ENST00000519068,;MSC-AS1,downstream_gene_variant,,ENST00000457356,;MSC-AS1,downstream_gene_variant,,ENST00000522519,;MSC-AS1,downstream_gene_variant,,ENST00000512290,;TRPA1,upstream_gene_variant,,ENST00000520788,;	T	ENST00000262209	Transcript	missense_variant	1235/5223	1027/3360	343/1119	R/S	Cgc/Agc	rs372548303	1		-1	TRPA1	HGNC	HGNC:497	protein_coding	YES	CCDS34908.1	ENSP00000262209	O75762		UPI000021081A	NM_007332.2	deleterious(0.03)		9/27		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF6,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	72057783	72057783	G	T	1	0	0	0	0	1	0	0	0	17082	1145	40	1		1	TRPA1	8	72057783	Missense_Mutation	SNP	G	C3N-00217_TP	5552364	72057783	73080853	289	12727											
CNGB3	0	.	GRCh38	chr8	86604196	86604197	+	Frame_Shift_Del	DEL	CC	CC	-																															atgcttgatgatatacatttCcttgccaatttctccctaca																								novel		C3N-00217_TP	C3N-00217_NB	CC	CC																c.1677_1678delGG	p.Glu560AsnfsTer16	p.E560Nfs*16	ENST00000320005	15/18	242	224	18	191	191	0	varindel-pindel	CNGB3,frameshift_variant,p.Glu560AsnfsTer16,ENST00000320005,NM_019098.4;	-	ENST00000320005	Transcript	frameshift_variant	1725-1726/4347	1677-1678/2430	559-560/809	KE/KX	aaGGaa/aaaa		1		-1	CNGB3	HGNC	HGNC:2153	protein_coding	YES	CCDS6244.1	ENSP00000316605	Q9NQW8		UPI000014076F	NM_019098.4			15/18		PROSITE_profiles:PS50042,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF385,PROSITE_patterns:PS00888,Pfam_domain:PF00027,Gene3D:2.60.120.10,SMART_domains:SM00100,Superfamily_domains:SSF51206																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	43	86604196	86604196	CC	-	1	0	1	0	1	0	0	0	0	3381	864	30	0		0	CNGB3	8	86604196	Frame_Shift_Del	DEL	CC	C3N-00217_TP	14546413	86604196	58534440	290	12728											
MMP16	0	.	GRCh38	chr8	88167886	88167886	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttcttcaaatgtcagAggagttacattctgccacac	12	11	8	10	0	4	1	2	0	2	1	4	3	4	3	1	2	3	1	1	2	3	4	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.492T>C	p.=	p.P164P	ENST00000286614	4/10	279	229	50	191	191	0	strelka-varscan	MMP16,synonymous_variant,p.=,ENST00000286614,NM_005941.4;MMP16,downstream_gene_variant,,ENST00000522726,;MMP16,non_coding_transcript_exon_variant,,ENST00000544227,;	G	ENST00000286614	Transcript	synonymous_variant	774/11558	492/1824	164/607	P	ccT/ccC		1		-1	MMP16	HGNC	HGNC:7162	protein_coding	YES	CCDS6246.1	ENSP00000286614	P51512		UPI000003DC73	NM_005941.4			4/10		hmmpanther:PTHR10201:SF26,hmmpanther:PTHR10201,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,Pfam_domain:PF00413,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	43	88167886	88167886	A	G	1	0	0	0	0	0	0	0	1	9618	291	11	5		5	MMP16	8	88167886	Silent	SNP	A	C3N-00217_TP	1563690	88167886	56970750	291	12729											
RIMS2	0	.	GRCh38	chr8	103697232	103697232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatggatgtggccataactGttcatattgccaaacaaagt	13	12	9	7	0	1	1	1	1	0	0	1	2	1	2	2	2	3	1	2	2	4	4			C3N-00217_TP	C3N-00217_NB	G	G																c.323G>A	p.Cys108Tyr	p.C108Y	ENST00000504942	2/24	409	163	246	366	365	1	strelka-varscan	RIMS2,missense_variant,p.Cys108Tyr,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Cys50Tyr,ENST00000626043,;RIMS2,missense_variant,p.Cys108Tyr,ENST00000632716,;	A	ENST00000504942	Transcript	missense_variant	462/4228	323/4050	108/1349	C/Y	tGt/tAt	COSM1150810,COSM3643490,COSM3643491,COSM748965	1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0)		2/24		Gene3D:3.30.40.10,Pfam_domain:PF02318,PROSITE_profiles:PS50178,PROSITE_profiles:PS50916,hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15,Superfamily_domains:SSF57903											1,1,1,1						MODERATE	1	SNV	2		1,1,1,1	1										PASS		.	.												A	3	1	43	103697232	103697232	G	A	1	0	0	0	0	1	0	0	0	13543	1377	48	3		3	RIMS2	8	103697232	Missense_Mutation	SNP	G	C3N-00217_TP	15529346	103697232	41441404	292	12730											
RIMS2	0	.	GRCh38	chr8	103766393	103766393	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaccaaaactacatgAgcagacccagttccaaggac	18	4	8	11	0	0	3	0	1	0	2	1	5	1	4	3	1	4	2	3	1	6	2	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.554A>T	p.Glu185Val	p.E185V	ENST00000504942	3/24	557	261	296	408	408	0	strelka-varscan	RIMS2,missense_variant,p.Glu185Val,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Glu127Val,ENST00000626043,;RIMS2,missense_variant,p.Glu189Val,ENST00000632716,;RIMS2,non_coding_transcript_exon_variant,,ENST00000395361,;RP11-771F20.1,upstream_gene_variant,,ENST00000481577,;	T	ENST00000504942	Transcript	missense_variant	693/4228	554/4050	185/1349	E/V	gAg/gTg		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0.01)		3/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	43	103766393	103766393	A	T	1	0	0	0	0	1	0	0	0	13543	304	11	4		4	RIMS2	8	103766393	Missense_Mutation	SNP	A	C3N-00217_TP	69161	103766393	41372243	293	12731											
DCSTAMP	0	.	GRCh38	chr8	104348636	104348636	+	Frame_Shift_Del	DEL	C	C	-																															agaagccccggatggatggaCtttatccagcatttgggagt																								novel		C3N-00217_TP	C3N-00217_NB	C	C																c.84delC	p.Phe29LeufsTer31	p.F29Lfs*31	ENST00000297581	2/4	444	176	268	274	274	0	sindel-varindel-pindel	DCSTAMP,frameshift_variant,p.Phe29LeufsTer31,ENST00000297581,NM_030788.3;DCSTAMP,frameshift_variant,p.Phe29LeufsTer31,ENST00000622554,NM_001257317.1;DCSTAMP,frameshift_variant,p.Phe29LeufsTer31,ENST00000517991,;DCSTAMP,non_coding_transcript_exon_variant,,ENST00000518023,;DCSTAMP,non_coding_transcript_exon_variant,,ENST00000517364,;DCSTAMP,non_coding_transcript_exon_variant,,ENST00000519562,;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,upstream_gene_variant,,ENST00000518051,;	-	ENST00000297581	Transcript	frameshift_variant	133/1953	84/1413	28/470	D/X	gaC/ga		1		1	DCSTAMP	HGNC	HGNC:18549	protein_coding	YES	CCDS6301.1	ENSP00000297581	Q9H295		UPI000003BCB5	NM_030788.3			2/4		hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	43	104348636	104348636	C	-	1	0	1	0	1	0	0	0	0	4106	564	20	0		0	DCSTAMP	8	104348636	Frame_Shift_Del	DEL	C	C3N-00217_TP	582243	104348636	40790000	294	12732											
DCSTAMP	0	.	GRCh38	chr8	104348851	104348851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggaatgctttgattgCagctggcacagggatcgtca	10	9	14	8	1	1	1	1	1	0	0	2	3	1	3	0	4	3	5	0	4	1	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.299C>A	p.Ala100Glu	p.A100E	ENST00000297581	2/4	387	344	43	262	262	0	strelka-varscan	DCSTAMP,missense_variant,p.Ala100Glu,ENST00000297581,NM_030788.3;DCSTAMP,missense_variant,p.Ala100Glu,ENST00000622554,NM_001257317.1;DCSTAMP,missense_variant,p.Ala100Glu,ENST00000517991,;DCSTAMP,non_coding_transcript_exon_variant,,ENST00000518023,;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,upstream_gene_variant,,ENST00000518051,;DCSTAMP,downstream_gene_variant,,ENST00000517364,;DCSTAMP,downstream_gene_variant,,ENST00000519562,;	A	ENST00000297581	Transcript	missense_variant	348/1953	299/1413	100/470	A/E	gCa/gAa		1		1	DCSTAMP	HGNC	HGNC:18549	protein_coding	YES	CCDS6301.1	ENSP00000297581	Q9H295		UPI000003BCB5	NM_030788.3	deleterious(0.03)		2/4		hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	104348851	104348851	C	A	1	0	0	0	0	1	0	0	0	4106	710	25	2		2	DCSTAMP	8	104348851	Missense_Mutation	SNP	C	C3N-00217_TP	215	104348851	40789785	295	12733											
CSMD3	0	.	GRCh38	chr8	112224843	112224843	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttccactgactttgcgttGgtgtcatacatgggattttc	6	16	9	10	1	1	1	1	1	0	0	3	2	2	2	2	2	2	1	2	2	1	6	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.11052C>A	p.=	p.T3684T	ENST00000297405	71/71	512	463	49	391	391	0	strelka-varscan	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000455883,NM_052900.2;CSMD3,synonymous_variant,p.=,ENST00000339701,;CSMD3,non_coding_transcript_exon_variant,,ENST00000534172,;	T	ENST00000297405	Transcript	synonymous_variant	11297/13212	11052/11124	3684/3707	T	acC/acA		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			71/71		hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	112224843	112224843	G	T	1	0	0	0	0	0	0	0	1	3747	1335	47	2		2	CSMD3	8	112224843	Silent	SNP	G	C3N-00217_TP	7875992	112224843	32913793	296	12734											
CSMD3	0	.	GRCh38	chr8	112301897	112301897	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcaggtaaagatagctgttGagccatatgaagtttgagtt	12	12	12	5	1	0	4	0	3	0	1	0	4	0	4	1	1	2	6	1	1	5	6	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.8336C>G	p.Ser2779Ter	p.S2779*	ENST00000297405	53/71	363	331	32	301	301	0	strelka-varscan	CSMD3,stop_gained,p.Ser2779Ter,ENST00000297405,NM_198123.1;CSMD3,stop_gained,p.Ser2739Ter,ENST00000343508,NM_198124.1;CSMD3,stop_gained,p.Ser2610Ter,ENST00000455883,NM_052900.2;CSMD3,stop_gained,p.Ser2049Ter,ENST00000339701,;	C	ENST00000297405	Transcript	stop_gained	8581/13212	8336/11124	2779/3707	S/*	tCa/tGa		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			53/71		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	43	112301897	112301897	G	C	1	0	0	0	0	0	1	0	0	3747	1294	45	4		4	CSMD3	8	112301897	Nonsense_Mutation	SNP	G	C3N-00217_TP	77054	112301897	32836739	297	12735											
KHDRBS3	0	.	GRCh38	chr8	135582036	135582036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaactgggtacagacctcCaccgccacccccgacacaag	11	3	7	20	2	0	1	0	0	0	1	1	2	1	1	7	1	2	1	7	1	3	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.770C>T	p.Pro257Leu	p.P257L	ENST00000355849	6/9	98	88	10	75	75	0	strelka-varscan	KHDRBS3,missense_variant,p.Pro257Leu,ENST00000355849,NM_006558.2;KHDRBS3,missense_variant,p.Pro229Leu,ENST00000524199,;KHDRBS3,missense_variant,p.Pro172Leu,ENST00000524282,;KHDRBS3,intron_variant,,ENST00000520981,;KHDRBS3,non_coding_transcript_exon_variant,,ENST00000522079,;KHDRBS3,missense_variant,p.Pro182Leu,ENST00000517859,;	T	ENST00000355849	Transcript	missense_variant	1180/1977	770/1041	257/346	P/L	cCa/cTa		1		1	KHDRBS3	HGNC	HGNC:18117	protein_coding	YES	CCDS6374.1	ENSP00000348108	O75525		UPI0000073E6F	NM_006558.2	tolerated(0.21)		6/9		Low_complexity_(Seg):seg,hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF29																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	135582036	135582036	C	T	1	0	0	0	0	1	0	0	0	8069	594	21	3		3	KHDRBS3	8	135582036	Missense_Mutation	SNP	C	C3N-00217_TP	23280139	135582036	9556600	298	12736											
FAM135B	0	.	GRCh38	chr8	138141289	138141289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtttgttgaggtaataccgGaaccggggccgtgtgaggac	9	9	16	7	3	0	2	0	2	0	0	0	4	0	4	3	5	2	3	3	5	3	4			C3N-00217_TP	C3N-00217_NB	G	G																c.3699C>A	p.Phe1233Leu	p.F1233L	ENST00000395297	17/20	360	158	202	257	257	0	strelka-varscan	FAM135B,missense_variant,p.Phe1233Leu,ENST00000395297,NM_015912.3;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,3_prime_UTR_variant,,ENST00000276737,;FAM135B,downstream_gene_variant,,ENST00000467365,;FAM135B,downstream_gene_variant,,ENST00000395295,;	T	ENST00000395297	Transcript	missense_variant	3870/6962	3699/4221	1233/1406	F/L	ttC/ttA	COSM3951318,COSM3951319,COSM4400007,COSM4400008	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	deleterious(0.01)		17/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482,Gene3D:3.40.50.1820,Pfam_domain:PF05057,Superfamily_domains:SSF53474											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		.	.												T	3	4	43	138141289	138141289	G	T	1	0	0	0	0	1	0	0	0	5299	1165	41	2		2	FAM135B	8	138141289	Missense_Mutation	SNP	G	C3N-00217_TP	2559253	138141289	6997347	299	12737											
ADGRB1	0	.	GRCh38	chr8	142464834	142464834	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggatcatgcagaccccCtgcgcctgcctgggcggcga	5	6	15	15	4	1	1	1	0	0	1	1	3	1	2	4	3	4	1	4	3	0	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.636C>A	p.=	p.P212P	ENST00000517894	2/31	187	77	110	122	122	0	strelka-varscan	ADGRB1,synonymous_variant,p.=,ENST00000517894,;ADGRB1,synonymous_variant,p.=,ENST00000323289,NM_001702.2;ADGRB1,synonymous_variant,p.=,ENST00000521208,;	A	ENST00000517894	Transcript	synonymous_variant	1530/6241	636/4755	212/1584	P	ccC/ccA		1		1	ADGRB1	HGNC	HGNC:943	protein_coding	YES	CCDS64985.1	ENSP00000430945	O14514		UPI00002109E8				2/31		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	43	142464834	142464834	C	A	1	0	0	0	0	0	0	0	1	355	668	24	2		2	ADGRB1	8	142464834	Silent	SNP	C	C3N-00217_TP	4323545	142464834	2673802	300	12738											
ADGRB1	0	.	GRCh38	chr8	142477149	142477149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtggtccccgtggagcGtgtgctccagcacctgcggc	5	7	16	13	3	0	0	0	0	0	0	2	2	2	2	4	4	4	2	4	4	0	0	rs570235746		C3N-00217_TP	C3N-00217_NB	G	G																c.1093G>T	p.Val365Leu	p.V365L	ENST00000517894	5/31	67	30	37	52	52	0	strelka-varscan	ADGRB1,missense_variant,p.Val365Leu,ENST00000517894,;ADGRB1,missense_variant,p.Val365Leu,ENST00000323289,NM_001702.2;ADGRB1,missense_variant,p.Val365Leu,ENST00000521208,;ADGRB1,upstream_gene_variant,,ENST00000518820,;	T	ENST00000517894	Transcript	missense_variant	1987/6241	1093/4755	365/1584	V/L	Gtg/Ttg	rs570235746	1		1	ADGRB1	HGNC	HGNC:943	protein_coding	YES	CCDS64985.1	ENSP00000430945	O14514		UPI00002109E8		tolerated(0.11)		5/31		PROSITE_profiles:PS50092,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	142477149	142477149	G	T	1	0	0	0	0	1	0	0	0	355	1145	40	1		1	ADGRB1	8	142477149	Missense_Mutation	SNP	G	C3N-00217_TP	12315	142477149	2661487	301	12739											
JRK	0	.	GRCh38	chr8	142666024	142666024	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccctcttccgcttctccCctctgctcttcccggcagcc	2	11	5	23	2	4	0	0	0	4	0	7	0	6	0	7	1	2	3	7	1	0	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.35G>T	p.Gly12Val	p.G12V	ENST00000612905	2/2	303	271	32	154	154	0	strelka-varscan	JRK,missense_variant,p.Gly12Val,ENST00000612905,NM_003724.3;JRK,missense_variant,p.Gly12Val,ENST00000614134,;JRK,missense_variant,p.Gly12Val,ENST00000615982,NM_001279352.1;JRK,missense_variant,p.Gly12Val,ENST00000571961,NM_001077527.2;JRK,missense_variant,p.Gly12Val,ENST00000503272,;PSCA,upstream_gene_variant,,ENST00000505305,;PSCA,upstream_gene_variant,,ENST00000510969,;JRK,downstream_gene_variant,,ENST00000591357,;JRK,upstream_gene_variant,,ENST00000506774,;	A	ENST00000612905	Transcript	missense_variant	560/9124	35/1707	12/568	G/V	gGg/gTg		1		-1	JRK	HGNC	HGNC:6199	protein_coding	YES	CCDS75796.1	ENSP00000482410		Q86XJ5	UPI000000DA37	NM_003724.3	deleterious(0.03)		2/2		PROSITE_profiles:PS50960,hmmpanther:PTHR19303:SF191,hmmpanther:PTHR19303																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	43	142666024	142666024	C	A	1	0	0	0	0	1	0	0	0	7876	623	22	2		2	JRK	8	142666024	Missense_Mutation	SNP	C	C3N-00217_TP	188875	142666024	2472612	302	12740											
TIGD5	0	.	GRCh38	chr8	143598574	143598574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccgcgccccggccccgcCgcccccggccgagggcggct	2	1	15	23	9	0	0	0	0	0	0	0	2	0	0	9	4	0	1	9	4	0	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.671C>T	p.Pro224Leu	p.P224L	ENST00000504548	1/1	80	24	56	37	37	0	strelka-varscan	TIGD5,missense_variant,p.Pro224Leu,ENST00000504548,NM_032862.4;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000618139,;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001289950.1,NM_001960.4;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;EEF1D,upstream_gene_variant,,ENST00000530848,;	T	ENST00000504548	Transcript	missense_variant	740/5390	671/1929	224/642	P/L	cCg/cTg		1		1	TIGD5	HGNC	HGNC:18336	protein_coding	YES	CCDS6406.2	ENSP00000421489	Q53EQ6		UPI0001BAE24C	NM_032862.4	tolerated(0.38)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF283																	MODERATE		SNV				1										PASS		.	.												T	3	4	43	143598574	143598574	C	T	1	0	0	0	0	1	0	0	0	16337	652	23	1		1	TIGD5	8	143598574	Missense_Mutation	SNP	C	C3N-00217_TP	932550	143598574	1540062	303	12741											
FBXL6	0	.	GRCh38	chr8	144356450	144356450	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgccaggcagagctcctCtaggctagggaagcctggtc	7	7	14	13	1	1	1	0	0	1	1	4	2	2	2	3	4	2	4	3	4	3	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1075G>T	p.Glu359Ter	p.E359*	ENST00000331890	7/9	462	413	49	260	260	0	strelka-varscan	FBXL6,stop_gained,p.Glu359Ter,ENST00000331890,NM_012162.3;FBXL6,stop_gained,p.Glu353Ter,ENST00000455319,NM_024555.5;SLC52A2,intron_variant,,ENST00000524541,;SLC52A2,upstream_gene_variant,,ENST00000532887,;SLC52A2,upstream_gene_variant,,ENST00000329994,NM_024531.4;SLC52A2,upstream_gene_variant,,ENST00000527078,;SLC52A2,upstream_gene_variant,,ENST00000402965,NM_001253815.1;SLC52A2,upstream_gene_variant,,ENST00000530047,NM_001253816.1;TMEM249,upstream_gene_variant,,ENST00000565365,NM_001252402.2,NM_001280561.1;SLC52A2,upstream_gene_variant,,ENST00000534725,;TMEM249,upstream_gene_variant,,ENST00000562477,NM_001252404.2;SLC52A2,upstream_gene_variant,,ENST00000526752,;SLC52A2,upstream_gene_variant,,ENST00000526338,;FBXL6,non_coding_transcript_exon_variant,,ENST00000526524,;FBXL6,non_coding_transcript_exon_variant,,ENST00000527000,;FBXL6,non_coding_transcript_exon_variant,,ENST00000524909,;SLC52A2,intron_variant,,ENST00000532815,;SLC52A2,upstream_gene_variant,,ENST00000526891,;FBXL6,downstream_gene_variant,,ENST00000530687,;FBXL6,non_coding_transcript_exon_variant,,ENST00000530142,;FBXL6,non_coding_transcript_exon_variant,,ENST00000524492,;TMEM249,upstream_gene_variant,,ENST00000561638,;GS1-393G12.13,upstream_gene_variant,,ENST00000531225,;SLC52A2,upstream_gene_variant,,ENST00000533662,;SLC52A2,upstream_gene_variant,,ENST00000526779,;FBXL6,downstream_gene_variant,,ENST00000529279,;	A	ENST00000331890	Transcript	stop_gained	1140/1785	1075/1620	359/539	E/*	Gag/Tag		1		-1	FBXL6	HGNC	HGNC:13603	protein_coding	YES	CCDS6422.1	ENSP00000330098	Q8N531		UPI0002064E15	NM_012162.3			7/9		Gene3D:3.80.10.10,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF479,Superfamily_domains:SSF52047																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	43	144356450	144356450	C	A	1	0	0	0	0	0	1	0	0	5586	922	32	2		2	FBXL6	8	144356450	Nonsense_Mutation	SNP	C	C3N-00217_TP	757876	144356450	782186	304	12742											
PTPRD	0	.	GRCh38	chr9	8521314	8521314	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctattgcttcaatgacaccCagtgttgacatagcaacaca	13	10	7	11	0	1	2	1	2	0	0	1	2	1	2	1	0	3	4	1	0	4	5	rs778129787		C3N-00217_TP	C3N-00217_NB	C	C																c.924G>T	p.=	p.L308L	ENST00000381196	17/43	133	109	24	165	165	0	strelka-varscan-mutect	PTPRD,synonymous_variant,p.=,ENST00000381196,NM_002839.3;PTPRD,synonymous_variant,p.=,ENST00000356435,;PTPRD,synonymous_variant,p.=,ENST00000355233,NM_130392.3;PTPRD,synonymous_variant,p.=,ENST00000397617,;PTPRD,synonymous_variant,p.=,ENST00000397611,NM_001040712.2;PTPRD,synonymous_variant,p.=,ENST00000537002,NM_130393.3;PTPRD,synonymous_variant,p.=,ENST00000540109,;PTPRD,synonymous_variant,p.=,ENST00000486161,NM_130391.3;PTPRD,synonymous_variant,p.=,ENST00000397606,NM_001171025.1;PTPRD,downstream_gene_variant,,ENST00000488774,;	A	ENST00000381196	Transcript	synonymous_variant	1468/9911	924/5739	308/1912	L	ctG/ctT	rs778129787,COSM351897,COSM351898	1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3			17/43		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF313,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs778129787	.												A	2	1	43	8521314	8521314	C	A	1	0	0	0	0	0	0	0	1	12953	581	21	2		2	PTPRD	9	8521314	Silent	SNP	C	C3N-00217_TP		8521314	129873403	305	12743											
IFNA17	0	.	GRCh38	chr9	21227798	21227798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtctcttccatcccaacctCctgtatcacacatgcttcca	9	12	3	17	0	2	0	1	0	1	0	7	0	6	0	5	0	2	2	5	0	2	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.376G>A	p.Glu126Lys	p.E126K	ENST00000413767	1/1	331	278	53	413	413	0	strelka-varscan-mutect	IFNA17,missense_variant,p.Glu126Lys,ENST00000413767,NM_021268.2;IFNWP5,downstream_gene_variant,,ENST00000445100,;	T	ENST00000413767	Transcript	missense_variant	425/980	376/570	126/189	E/K	Gag/Aag		1		-1	IFNA17	HGNC	HGNC:5422	protein_coding	YES	CCDS6500.1	ENSP00000411940	P01571		UPI0000052AF9	NM_021268.2	tolerated(0.1)		1/1		Gene3D:1.20.1250.10,Pfam_domain:PF00143,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29,SMART_domains:SM00076,Superfamily_domains:SSF47266																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	43	21227798	21227798	C	T	1	0	0	0	0	1	0	0	0	7436	864	30	3		3	IFNA17	9	21227798	Missense_Mutation	SNP	C	C3N-00217_TP	12706484	21227798	117166919	306	12744											
FAM205A	0	.	GRCh38	chr9	34725124	34725124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagccactgccaggacccCagaaattctgcagtcccagg	11	5	11	14	0	1	1	0	0	1	1	2	3	2	3	5	3	3	1	5	3	1	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2116G>A	p.Gly706Arg	p.G706R	ENST00000378788	4/4	243	201	42	224	224	0	strelka-varscan-mutect	FAM205A,missense_variant,p.Gly706Arg,ENST00000378788,NM_001141917.1;	T	ENST00000378788	Transcript	missense_variant	2156/4225	2116/4008	706/1335	G/R	Ggg/Agg		1		-1	FAM205A	HGNC	HGNC:41911	protein_coding	YES	CCDS55305.1	ENSP00000417711	Q6ZU69		UPI00017EE92B	NM_001141917.1	tolerated(0.1)		4/4		hmmpanther:PTHR21859:SF15,hmmpanther:PTHR21859																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	43	34725124	34725124	C	T	1	0	0	0	0	1	0	0	0	5386	594	21	3		3	FAM205A	9	34725124	Missense_Mutation	SNP	C	C3N-00217_TP	13497326	34725124	103669593	307	12745											
TLN1	0	.	GRCh38	chr9	35719176	35719176	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgccgccttcgtcctcCagcaaggcagccagcagctt	7	7	9	18	2	0	0	0	0	0	0	3	0	2	0	6	1	5	4	6	1	1	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1794G>C	p.=	p.L598L	ENST00000314888	16/57	179	113	66	206	206	0	strelka-varscan-mutect	TLN1,synonymous_variant,p.=,ENST00000314888,NM_006289.3;TLN1,downstream_gene_variant,,ENST00000378192,;	G	ENST00000314888	Transcript	synonymous_variant	2148/8823	1794/7626	598/2541	L	ctG/ctC		1		-1	TLN1	HGNC	HGNC:11845	protein_coding	YES	CCDS35009.1	ENSP00000316029	Q9Y490		UPI0000211375	NM_006289.3			16/57		hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF7,Gene3D:1sj7B00,Pfam_domain:PF09141,Superfamily_domains:0043634																	LOW	1	SNV	1			1										PASS		rs1046474968	.												G	2	3	43	35719176	35719176	C	G	1	0	0	0	0	0	0	0	1	16393	581	21	4		4	TLN1	9	35719176	Silent	SNP	C	C3N-00217_TP	994052	35719176	102675541	308	12746											
FRMPD1	0	.	GRCh38	chr9	37745177	37745177	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagctccagttggagcccCatgtccagttggaaatggga	10	9	13	9	0	0	1	0	0	0	1	2	4	2	4	4	3	2	3	4	3	2	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.3145C>A	p.His1049Asn	p.H1049N	ENST00000539465	16/16	231	156	75	272	272	0	strelka-varscan-mutect	FRMPD1,missense_variant,p.His1049Asn,ENST00000539465,;FRMPD1,missense_variant,p.His1049Asn,ENST00000377765,NM_014907.2;RP11-613M10.9,intron_variant,,ENST00000540557,;	A	ENST00000539465	Transcript	missense_variant	3738/5465	3145/4737	1049/1578	H/N	Cat/Aat		1		1	FRMPD1	HGNC	HGNC:29159	protein_coding	YES	CCDS6612.1	ENSP00000444411	Q5SYB0		UPI000013D2CC		tolerated_low_confidence(0.05)		16/16																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	37745177	37745177	C	A	1	0	0	0	0	1	0	0	0	5927	594	21	2		2	FRMPD1	9	37745177	Missense_Mutation	SNP	C	C3N-00217_TP	2026001	37745177	100649540	309	12747											
SPATA31A6	0	.	GRCh38	chr9	42187518	42187518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaaaagtggatcatccaaCactggggcaacctgggaagg	15	6	12	8	0	1	0	1	0	0	0	2	2	2	2	2	5	2	1	2	5	6	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1816C>A	p.His606Asn	p.H606N	ENST00000332857	4/4	268	252	16	312	312	0	varscan-mutect	SPATA31A6,missense_variant,p.His606Asn,ENST00000332857,NM_001145196.1;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	A	ENST00000332857	Transcript	missense_variant	1845/4209	1816/4032	606/1343	H/N	Cac/Aac		1		1	SPATA31A6	HGNC	HGNC:32006	protein_coding	YES	CCDS75837.1	ENSP00000329825	Q5VVP1		UPI0000197F6E	NM_001145196.1	deleterious(0.01)		4/4		hmmpanther:PTHR21859:SF18,hmmpanther:PTHR21859,Pfam_domain:PF14650																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	43	42187518	42187518	C	A	1	0	0	0	0	1	0	0	0	15345	478	17	2		2	SPATA31A6	9	42187518	Missense_Mutation	SNP	C	C3N-00217_TP	4442341	42187518	96207199	310	12748											
SPATA31A7	0	.	GRCh38	chr9	61193914	61193914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaaaagtggatcatccaaCactggggcaacctgggaagg	15	6	12	8	0	1	0	1	0	0	0	2	2	2	2	2	5	2	1	2	5	6	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1828C>A	p.His610Asn	p.H610N	ENST00000619167	4/4	72	62	10	80	80	0	varscan-mutect	SPATA31A7,missense_variant,p.His610Asn,ENST00000619167,NM_015667.2;RP11-101E5.6,downstream_gene_variant,,ENST00000611332,;SPATA31A7,non_coding_transcript_exon_variant,,ENST00000621711,;SPATA31A7,downstream_gene_variant,,ENST00000618860,;SPATA31A7,downstream_gene_variant,,ENST00000619140,;SPATA31A7,downstream_gene_variant,,ENST00000622899,;SPATA31A7,downstream_gene_variant,,ENST00000622751,;SPATA31A7,downstream_gene_variant,,ENST00000376458,;SPATA31A7,downstream_gene_variant,,ENST00000614013,;SPATA31A7,downstream_gene_variant,,ENST00000611017,;	A	ENST00000619167	Transcript	missense_variant	1890/4256	1828/4044	610/1347	H/N	Cac/Aac		1		1	SPATA31A7	HGNC	HGNC:32007	protein_coding	YES	CCDS75838.1	ENSP00000484807	Q8IWB4		UPI0000457748	NM_015667.2	deleterious(0.01)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF22,Pfam_domain:PF14650																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	61193914	61193914	C	A	1	0	0	0	0	1	0	0	0	15346	478	17	2		2	SPATA31A7	9	61193914	Missense_Mutation	SNP	C	C3N-00217_TP	19006396	61193914	77200803	311	12749											
PRKACG	0	.	GRCh38	chr9	69013426	69013426	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagcacccctagggcccAccagtccacggccttgttgt	7	8	11	15	1	0	1	0	1	0	0	1	2	1	1	6	2	1	2	6	2	1	3	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.667T>A	p.Trp223Arg	p.W223R	ENST00000377276	1/1	378	237	141	401	400	1	strelka-varscan-mutect	PRKACG,missense_variant,p.Trp223Arg,ENST00000377276,NM_002732.3;PIP5K1B,downstream_gene_variant,,ENST00000541509,NM_001278253.1;PIP5K1B,downstream_gene_variant,,ENST00000265382,NM_003558.3;PIP5K1B,downstream_gene_variant,,ENST00000478500,;	T	ENST00000377276	Transcript	missense_variant	688/1585	667/1056	223/351	W/R	Tgg/Agg		1		-1	PRKACG	HGNC	HGNC:9382	protein_coding	YES	CCDS6625.1	ENSP00000366488	P22612		UPI000013E448	NM_002732.3	deleterious(0)		1/1		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24353,hmmpanther:PTHR24353:SF53,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE		SNV				1										PASS		.	.												T	3	4	43	69013426	69013426	A	T	1	0	0	0	0	1	0	0	0	12632	159	6	4		4	PRKACG	9	69013426	Missense_Mutation	SNP	A	C3N-00217_TP	7819512	69013426	69381291	312	12750											
TRPM6	0	.	GRCh38	chr9	74739434	74739434	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcaatttttgagcagctcTttgttgttgaatttcctaca	9	18	7	7	0	2	2	1	2	1	0	3	3	3	2	1	0	3	4	1	0	3	7	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.5503A>T	p.Arg1835Ter	p.R1835*	ENST00000360774	35/39	294	238	56	354	354	0	strelka-varscan-mutect	TRPM6,stop_gained,p.Arg1835Ter,ENST00000360774,NM_017662.4;TRPM6,stop_gained,p.Arg1830Ter,ENST00000361255,NM_001177311.1;TRPM6,stop_gained,p.Arg1830Ter,ENST00000449912,NM_001177310.1;	A	ENST00000360774	Transcript	stop_gained	5741/8425	5503/6069	1835/2022	R/*	Aga/Tga		1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4			35/39		Gene3D:3.30.200.20,Pfam_domain:PF02816,PROSITE_profiles:PS51158,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15,SMART_domains:SM00811,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	43	74739434	74739434	T	A	1	0	0	0	0	0	1	0	0	17096	1617	56	4		4	TRPM6	9	74739434	Nonsense_Mutation	SNP	T	C3N-00217_TP	5726008	74739434	63655283	313	12751											
TLE4	0	.	GRCh38	chr9	79704807	79704807	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtatccccatcagccAgtttccgaggtgctgagaag	9	10	10	12	1	2	1	2	1	0	1	4	3	4	1	4	1	2	3	4	1	2	3	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.634A>T	p.Ser212Cys	p.S212C	ENST00000376537	9/21	176	111	65	174	174	0	strelka-varscan-mutect	TLE4,missense_variant,p.Ser212Cys,ENST00000376544,NM_001282753.1;TLE4,missense_variant,p.Ser212Cys,ENST00000376552,NM_007005.4,NM_001282760.1;TLE4,missense_variant,p.Ser212Cys,ENST00000376537,NM_001282748.1;TLE4,missense_variant,p.Ser187Cys,ENST00000265284,NM_001282749.1;TLE4,missense_variant,p.Ser3Cys,ENST00000496114,;TLE4,missense_variant,p.Ser197Cys,ENST00000428713,;TLE4,missense_variant,p.Ser82Cys,ENST00000490347,;TLE4,missense_variant,p.Ser9Cys,ENST00000467142,;TLE4,downstream_gene_variant,,ENST00000435650,;TLE4,upstream_gene_variant,,ENST00000417836,;TLE4,non_coding_transcript_exon_variant,,ENST00000463431,;TLE4,upstream_gene_variant,,ENST00000478290,;TLE4,missense_variant,p.Gln255Leu,ENST00000462803,;TLE4,3_prime_UTR_variant,,ENST00000470872,;TLE4,non_coding_transcript_exon_variant,,ENST00000495170,;	T	ENST00000376537	Transcript	missense_variant	810/2793	634/2418	212/805	S/C	Agt/Tgt		1		1	TLE4	HGNC	HGNC:11840	protein_coding	YES	CCDS65069.1	ENSP00000365720	Q04727		UPI000056D4A8	NM_001282748.1	deleterious(0.01)		9/21		hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF21,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	79704807	79704807	A	T	1	0	0	0	0	1	0	0	0	16387	188	7	4		4	TLE4	9	79704807	Missense_Mutation	SNP	A	C3N-00217_TP	4965373	79704807	58689910	314	12752											
DIRAS2	0	.	GRCh38	chr9	90613516	90613516	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcccctttgatctcgcaGatttgttcgtagatgggctt	6	15	10	10	3	1	3	0	1	1	2	4	3	2	3	2	1	0	4	2	1	1	5			C3N-00217_TP	C3N-00217_NB	G	G																c.312C>A	p.=	p.I104I	ENST00000375765	2/2	448	362	86	445	445	0	strelka-varscan-mutect	DIRAS2,synonymous_variant,p.=,ENST00000375765,NM_017594.4;DIRAS2,synonymous_variant,p.=,ENST00000636786,;DIRAS2,downstream_gene_variant,,ENST00000637905,;	T	ENST00000375765	Transcript	synonymous_variant	702/4386	312/600	104/199	I	atC/atA	COSM456216	1		-1	DIRAS2	HGNC	HGNC:19323	protein_coding	YES	CCDS6687.1	ENSP00000364919	Q96HU8		UPI000004D253	NM_017594.4			2/2		PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF178,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	43	90613516	90613516	G	T	1	0	0	0	0	0	0	0	1	4336	932	33	2		2	DIRAS2	9	90613516	Silent	SNP	G	C3N-00217_TP	10908709	90613516	47781201	315	12753											
ROR2	0	.	GRCh38	chr9	91724833	91724833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgccgtgcgaacagtagCtgaagatcatgctcaggggc	9	7	15	10	3	2	2	2	1	0	1	3	3	2	2	1	3	4	3	1	3	3	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1661G>A	p.Ser554Asn	p.S554N	ENST00000375708	9/9	51	41	10	41	41	0	strelka-varscan-mutect	ROR2,missense_variant,p.Ser554Asn,ENST00000375708,NM_004560.3;ROR2,missense_variant,p.Ser414Asn,ENST00000375715,;ROR2,non_coding_transcript_exon_variant,,ENST00000550066,;	T	ENST00000375708	Transcript	missense_variant	1860/4096	1661/2832	554/943	S/N	aGc/aAc		1		-1	ROR2	HGNC	HGNC:10257	protein_coding	YES	CCDS6691.1	ENSP00000364860	Q01974		UPI000013E8CA	NM_004560.3	deleterious(0.03)		9/9		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000624,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF132,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	91724833	91724833	C	T	1	0	0	0	0	1	0	0	0	13704	797	28	3		3	ROR2	9	91724833	Missense_Mutation	SNP	C	C3N-00217_TP	1111317	91724833	46669884	316	12754											
ROR2	0	.	GRCh38	chr9	91733316	91733316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgcggcacagctcacgcGgcttgggtgtccgggagcgc	4	6	17	14	7	1	0	1	0	0	0	3	1	2	1	1	4	2	3	1	4	0	1			C3N-00217_TP	C3N-00217_NB	G	G																c.743C>A	p.Pro248Gln	p.P248Q	ENST00000375708	6/9	152	128	24	153	151	2	strelka-varscan-mutect	ROR2,missense_variant,p.Pro248Gln,ENST00000375708,NM_004560.3;ROR2,missense_variant,p.Pro108Gln,ENST00000375715,;ROR2,non_coding_transcript_exon_variant,,ENST00000550066,;	T	ENST00000375708	Transcript	missense_variant	942/4096	743/2832	248/943	P/Q	cCg/cAg	COSM3908829,COSM4926158	1		-1	ROR2	HGNC	HGNC:10257	protein_coding	YES	CCDS6691.1	ENSP00000364860	Q01974		UPI000013E8CA	NM_004560.3	tolerated(0.18)		6/9		Gene3D:2.40.20.10,Pfam_domain:PF01392,PIRSF_domain:PIRSF000624,PROSITE_profiles:PS50038,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF132											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1363164502	.												T	3	4	43	91733316	91733316	G	T	1	0	0	0	0	1	0	0	0	13704	1116	39	1		1	ROR2	9	91733316	Missense_Mutation	SNP	G	C3N-00217_TP	8483	91733316	46661401	317	12755											
FBP2	0	.	GRCh38	chr9	94593699	94593699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtcagggtgagcatgtCggtttcgaaggggcttctgt	5	11	18	7	3	2	1	1	1	1	0	4	2	2	1	0	5	1	3	0	5	1	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.28G>T	p.Asp10Tyr	p.D10Y	ENST00000375337	1/7	143	75	68	161	161	0	strelka-varscan-mutect	FBP2,missense_variant,p.Asp10Tyr,ENST00000375337,NM_003837.3;	A	ENST00000375337	Transcript	missense_variant	95/1305	28/1020	10/339	D/Y	Gac/Tac		1		-1	FBP2	HGNC	HGNC:3607	protein_coding	YES	CCDS6711.1	ENSP00000364486	O00757		UPI000013CDC2	NM_003837.3	deleterious(0)		1/7		PIRSF_domain:PIRSF000904,PIRSF_domain:PIRSF500210,hmmpanther:PTHR11556,hmmpanther:PTHR11556:SF13,Superfamily_domains:SSF56655																	MODERATE	1	SNV	1			1										PASS		rs1417966414	.												A	3	1	43	94593699	94593699	C	A	1	0	0	0	0	1	0	0	0	5569	884	31	1		1	FBP2	9	94593699	Missense_Mutation	SNP	C	C3N-00217_TP	2860383	94593699	43801018	318	12756											
GRIN3A	0	.	GRCh38	chr9	101613516	101613516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagttgggtgggaggcCaatgccgtatcctagaagaa	11	8	16	6	1	0	3	0	0	0	3	1	5	1	4	3	4	1	2	3	4	5	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2626G>A	p.Gly876Ser	p.G876S	ENST00000361820	6/9	327	273	54	364	364	0	strelka-varscan-mutect	GRIN3A,missense_variant,p.Gly876Ser,ENST00000361820,NM_133445.2;GRIN3A,non_coding_transcript_exon_variant,,ENST00000479772,;	T	ENST00000361820	Transcript	missense_variant	3227/7770	2626/3348	876/1115	G/S	Ggc/Agc		1		-1	GRIN3A	HGNC	HGNC:16767	protein_coding	YES	CCDS6758.1	ENSP00000355155	Q8TCU5		UPI0000367661	NM_133445.2	deleterious(0)		6/9		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	101613516	101613516	C	T	1	0	0	0	0	1	0	0	0	6665	594	21	3		3	GRIN3A	9	101613516	Missense_Mutation	SNP	C	C3N-00217_TP	7019817	101613516	36781201	319	12757											
OR13C5	0	.	GRCh38	chr9	104598717	104598717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggaaggtttgcttctccCctccgaagagctaattttga	10	12	10	9	1	1	3	0	1	1	2	3	5	2	4	3	2	2	3	3	2	3	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.697G>T	p.Gly233Trp	p.G233W	ENST00000374779	1/1	237	195	42	326	326	0	strelka-varscan-mutect	OR13C5,missense_variant,p.Gly233Trp,ENST00000374779,NM_001004482.1;	A	ENST00000374779	Transcript	missense_variant	697/957	697/957	233/318	G/W	Ggg/Tgg		1		-1	OR13C5	HGNC	HGNC:15100	protein_coding	YES	CCDS35091.1	ENSP00000363911	Q8NGS8		UPI0000041D12	NM_001004482.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF121,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1324469059	.												A	3	1	43	104598717	104598717	C	A	1	0	0	0	0	1	0	0	0	11013	623	22	2		2	OR13C5	9	104598717	Missense_Mutation	SNP	C	C3N-00217_TP	2985201	104598717	33796000	320	12758											
OR1Q1	0	.	GRCh38	chr9	122615062	122615062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcttcatttgcttcgccGtcatggaaaacttcatcctg	8	16	6	11	2	4	0	3	0	1	0	6	1	5	1	2	1	2	1	2	1	2	5	rs764018659		C3N-00217_TP	C3N-00217_NB	G	G																c.325G>A	p.Val109Ile	p.V109I	ENST00000297913	1/1	237	193	44	267	267	0	strelka-varscan-mutect	OR1Q1,missense_variant,p.Val109Ile,ENST00000297913,NM_012364.1;RP11-64P14.7,intron_variant,,ENST00000431442,;RP11-64P14.7,upstream_gene_variant,,ENST00000419604,;	A	ENST00000297913	Transcript	missense_variant	325/945	325/945	109/314	V/I	Gtc/Atc	rs764018659,COSM4709721	1		1	OR1Q1	HGNC	HGNC:8223	protein_coding	YES	CCDS35125.1	ENSP00000297913	Q15612		UPI000003CACD	NM_012364.1	tolerated(0.55)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF92,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						MODERATE		SNV			0,1	1										PASS		rs764018659	.												A	3	1	43	122615062	122615062	G	A	1	0	0	0	0	1	0	0	0	11049	1145	40	1		1	OR1Q1	9	122615062	Missense_Mutation	SNP	G	C3N-00217_TP	18016345	122615062	15779655	321	12759											
CRB2	0	.	GRCh38	chr9	123370248	123370248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgttctgtgcagctcactGgctgccagggccacacctgc	6	9	11	15	0	2	0	1	0	1	0	2	0	2	0	3	2	4	4	3	2	0	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1195G>A	p.Gly399Ser	p.G399S	ENST00000373631	7/13	176	146	30	149	147	2	strelka-varscan-mutect	CRB2,missense_variant,p.Gly399Ser,ENST00000373631,NM_173689.6;CRB2,missense_variant,p.Gly399Ser,ENST00000359999,;CRB2,missense_variant,p.Gly67Ser,ENST00000460253,;	A	ENST00000373631	Transcript	missense_variant	1196/5550	1195/3858	399/1285	G/S	Ggc/Agc		1		1	CRB2	HGNC	HGNC:18688	protein_coding	YES	CCDS6852.2	ENSP00000362734	Q5IJ48		UPI000022D9DE	NM_173689.6	deleterious(0)		7/13		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF1,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	123370248	123370248	G	A	1	0	0	0	0	1	0	0	0	3649	1348	47	3		3	CRB2	9	123370248	Missense_Mutation	SNP	G	C3N-00217_TP	755186	123370248	15024469	322	12760											
LHX2	0	.	GRCh38	chr9	124032641	124032641	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtccgtcttaacttctgtGcctggcaacctggagggcca	7	10	11	13	2	2	0	0	0	2	0	3	1	3	1	4	3	3	1	4	3	2	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1155G>C	p.=	p.V385V	ENST00000373615	5/5	141	89	52	105	105	0	strelka-varscan-mutect	LHX2,synonymous_variant,p.=,ENST00000373615,NM_004789.3;LHX2,synonymous_variant,p.=,ENST00000446480,;LHX2,3_prime_UTR_variant,,ENST00000488674,;RP11-85O21.5,upstream_gene_variant,,ENST00000429482,;	C	ENST00000373615	Transcript	synonymous_variant	1894/2554	1155/1221	385/406	V	gtG/gtC		1		1	LHX2	HGNC	HGNC:6594	protein_coding	YES	CCDS6853.1	ENSP00000362717	P50458		UPI000012E659	NM_004789.3			5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF90																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	43	124032641	124032641	G	C	1	0	0	0	0	0	0	0	1	8680	1306	46	4		4	LHX2	9	124032641	Silent	SNP	G	C3N-00217_TP	662393	124032641	14362076	323	12761											
OBP2B	0	.	GRCh38	chr9	133205348	133205348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcatggctggagggtaggtCcaggtggtccaggctctgtg	5	10	18	8	0	2	0	1	0	1	0	4	1	4	1	2	7	0	3	2	7	1	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.644G>T	p.Gly215Val	p.G215V	ENST00000372032	8/8	91	77	14	82	82	0	strelka-varscan-mutect	OBP2B,missense_variant,p.Gly215Val,ENST00000372032,;OBP2B,3_prime_UTR_variant,,ENST00000618116,NM_001288987.1;OBP2B,3_prime_UTR_variant,,ENST00000372034,NM_014581.3;OBP2B,non_coding_transcript_exon_variant,,ENST00000461961,;OBP2B,3_prime_UTR_variant,,ENST00000473737,;	A	ENST00000372032	Transcript	missense_variant	672/702	644/663	215/220	G/V	gGa/gTa		1		-1	OBP2B	HGNC	HGNC:23381	protein_coding			ENSP00000361102		C9J395	UPI0004E4CBE6		deleterious_low_confidence(0)		8/8		Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	43	133205348	133205348	C	A	1	0	0	0	0	1	0	0	0	10888	855	30	2		2	OBP2B	9	133205348	Missense_Mutation	SNP	C	C3N-00217_TP	9172707	133205348	5189369	324	12762											
OLFM1	0	.	GRCh38	chr9	135119611	135119611	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaccgtctcccccacccCtggtcgggcacggggcaggt	4	6	12	19	3	1	0	0	0	1	0	4	0	2	0	6	5	0	2	6	5	0	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.891C>T	p.=	p.P297P	ENST00000371793	6/6	193	131	62	185	185	0	strelka-varscan-mutect	OLFM1,synonymous_variant,p.=,ENST00000252854,NM_014279.4;OLFM1,synonymous_variant,p.=,ENST00000371796,NM_001282612.1;OLFM1,synonymous_variant,p.=,ENST00000371793,NM_001282611.1;OLFM1,synonymous_variant,p.=,ENST00000539877,;OLFM1,3_prime_UTR_variant,,ENST00000545657,;OLFM1,non_coding_transcript_exon_variant,,ENST00000483042,;	T	ENST00000371793	Transcript	synonymous_variant	1142/2444	891/1458	297/485	P	ccC/ccT		1		1	OLFM1	HGNC	HGNC:17187	protein_coding	YES	CCDS65184.1	ENSP00000360858	Q99784		UPI000013DB05	NM_001282611.1			6/6		PROSITE_profiles:PS51132,hmmpanther:PTHR23192:SF34,hmmpanther:PTHR23192,Pfam_domain:PF02191,SMART_domains:SM00284																	LOW	1	SNV	3			1										PASS		.	.												T	2	4	43	135119611	135119611	C	T	1	0	0	0	0	0	0	0	1	10927	668	24	3		3	OLFM1	9	135119611	Silent	SNP	C	C3N-00217_TP	1914263	135119611	3275106	325	12763											
OBP2A	0	.	GRCh38	chr9	135549900	135549900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagagcccggaccacctgGacctaccctccagccatgac	10	4	8	19	1	0	2	0	1	0	1	1	4	1	4	7	2	3	0	7	2	1	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.643G>T	p.Asp215Tyr	p.D215Y	ENST00000340780	7/7	110	102	8	116	116	0	varscan-mutect	OBP2A,missense_variant,p.Asp215Tyr,ENST00000340780,NM_001293189.1;OBP2A,missense_variant,p.Gly215Val,ENST00000619164,;OBP2A,3_prime_UTR_variant,,ENST00000539850,;OBP2A,3_prime_UTR_variant,,ENST00000371776,NM_014582.2;OBP2A,3_prime_UTR_variant,,ENST00000342114,NM_001293193.1;OBP2A,3_prime_UTR_variant,,ENST00000471886,;OBP2A,3_prime_UTR_variant,,ENST00000537747,;	T	ENST00000340780	Transcript	missense_variant	685/741	643/687	215/228	D/Y	Gac/Tac		1		1	OBP2A	HGNC	HGNC:23380	protein_coding	YES	CCDS78455.1	ENSP00000342097		Q5T8A5	UPI00003676A5	NM_001293189.1	deleterious_low_confidence(0)		7/7		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	135549900	135549900	G	T	1	0	0	0	0	1	0	0	0	10887	1174	41	2		2	OBP2A	9	135549900	Missense_Mutation	SNP	G	C3N-00217_TP	430289	135549900	2844817	326	12764											
NOTCH1	0	.	GRCh38	chr9	136500740	136500740	+	Frame_Shift_Del	DEL	G	G	-																															gttgtgcaggctggcgccctGgtagatgaagtcggagatga																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.5746delC	p.Gln1916ArgfsTer65	p.Q1916Rfs*65	ENST00000277541	31/34	302	189	113	309	309	0	sindel-varindel-pindel	NOTCH1,frameshift_variant,p.Gln1916ArgfsTer65,ENST00000277541,NM_017617.3;NOTCH1,downstream_gene_variant,,ENST00000494783,;	-	ENST00000277541	Transcript	frameshift_variant	5822/9371	5746/7668	1916/2555	Q/X	Cag/ag		1		-1	NOTCH1	HGNC	HGNC:7881	protein_coding	YES	CCDS43905.1	ENSP00000277541	P46531		UPI0000210F68	NM_017617.3			31/34		Gene3D:1.25.40.20,Pfam_domain:PF12796,PIRSF_domain:PIRSF002279,PROSITE_profiles:PS50297,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF69,SMART_domains:SM00248,Superfamily_domains:SSF48403																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	43	136500740	136500740	G	-	1	0	1	0	1	0	0	0	0	10592	1357	47	0		0	NOTCH1	9	136500740	Frame_Shift_Del	DEL	G	C3N-00217_TP	950840	136500740	1893977	327	12765											
FUT7	0	.	GRCh38	chr9	137031089	137031089	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcggtactgggccacggtgGgcaccaggcagctggcgcac	7	4	17	13	3	0	0	0	0	0	0	0	0	0	0	2	6	3	5	2	6	1	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.650C>G	p.Pro217Arg	p.P217R	ENST00000314412	2/2	286	184	102	254	254	0	strelka-varscan-mutect	FUT7,missense_variant,p.Pro217Arg,ENST00000314412,NM_004479.3;ABCA2,upstream_gene_variant,,ENST00000265662,;ABCA2,upstream_gene_variant,,ENST00000371605,;ABCA2,upstream_gene_variant,,ENST00000614293,;ABCA2,upstream_gene_variant,,ENST00000341511,NM_001606.4,NM_212533.2;ABCA2,upstream_gene_variant,,ENST00000625103,;C9orf139,intron_variant,,ENST00000623196,;ABCA2,upstream_gene_variant,,ENST00000459850,;ABCA2,upstream_gene_variant,,ENST00000487109,;ABCA2,upstream_gene_variant,,ENST00000464876,;ABCA2,upstream_gene_variant,,ENST00000492260,;ABCA2,upstream_gene_variant,,ENST00000494046,;ABCA2,upstream_gene_variant,,ENST00000476211,;ABCA2,upstream_gene_variant,,ENST00000398207,;RP11-229P13.27,downstream_gene_variant,,ENST00000622933,;RP11-229P13.27,downstream_gene_variant,,ENST00000625047,;ABCA2,upstream_gene_variant,,ENST00000425423,;	C	ENST00000314412	Transcript	missense_variant	1669/2584	650/1029	217/342	P/R	cCc/cGc		1		-1	FUT7	HGNC	HGNC:4018	protein_coding	YES	CCDS7022.1	ENSP00000318142	Q11130		UPI000012ADAF	NM_004479.3	deleterious(0.01)		2/2		hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF12,Pfam_domain:PF00852,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	137031089	137031089	G	C	1	0	0	0	0	1	0	0	0	5981	1232	43	4		4	FUT7	9	137031089	Missense_Mutation	SNP	G	C3N-00217_TP	530349	137031089	1363628	328	12766											
TAF3	0	.	GRCh38	chr10	7964797	7964797	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctaagagaatttcaggcccGgagtgtactactcccaaagc	12	8	9	12	1	1	1	1	0	0	1	2	3	2	2	3	2	3	1	3	2	5	4	rs778165372		C3N-00217_TP	C3N-00217_NB	G	G																c.1287G>T	p.=	p.P429P	ENST00000344293	3/7	191	146	45	214	214	0	strelka-varscan-mutect	TAF3,synonymous_variant,p.=,ENST00000344293,NM_031923.3;	T	ENST00000344293	Transcript	synonymous_variant	1493/4872	1287/2790	429/929	P	ccG/ccT	rs778165372	1		1	TAF3	HGNC	HGNC:17303	protein_coding	YES	CCDS41487.1	ENSP00000340271	Q5VWG9		UPI00004588FA	NM_031923.3			3/7																			LOW	1	SNV	2			1										PASS		rs778165372	.												T	2	4	43	7964797	7964797	G	T	1	0	0	0	0	0	0	0	1	15921	1103	39	1		1	TAF3	10	7964797	Silent	SNP	G	C3N-00217_TP		7964797	125832625	329	12767											
TAF3	0	.	GRCh38	chr10	7965079	7965079	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctccgtggaggtaaagaaGaagttgaaaaaggaactaaa	18	7	11	5	1	0	3	0	1	0	2	2	5	2	5	2	3	1	2	2	3	9	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1569G>C	p.Lys523Asn	p.K523N	ENST00000344293	3/7	198	154	44	254	254	0	strelka-varscan-mutect	TAF3,missense_variant,p.Lys523Asn,ENST00000344293,NM_031923.3;	C	ENST00000344293	Transcript	missense_variant	1775/4872	1569/2790	523/929	K/N	aaG/aaC		1		1	TAF3	HGNC	HGNC:17303	protein_coding	YES	CCDS41487.1	ENSP00000340271	Q5VWG9		UPI00004588FA	NM_031923.3	deleterious_low_confidence(0)		3/7		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	43	7965079	7965079	G	C	1	0	0	0	0	1	0	0	0	15921	933	33	4		4	TAF3	10	7965079	Missense_Mutation	SNP	G	C3N-00217_TP	282	7965079	125832343	330	12768											
CCDC3	0	.	GRCh38	chr10	13001297	13001297	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggagccggcgggcacctCcagcatgctgccccacgcct	5	5	12	19	3	0	0	0	0	0	0	1	1	1	1	7	3	4	3	7	3	0	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.274G>T	p.Glu92Ter	p.E92*	ENST00000378825	1/3	242	177	65	189	189	0	strelka-varscan-mutect	CCDC3,stop_gained,p.Glu92Ter,ENST00000378825,NM_031455.3;CCDC3,intron_variant,,ENST00000378839,NM_001282658.1;	A	ENST00000378825	Transcript	stop_gained	401/2731	274/813	92/270	E/*	Gag/Tag		1		-1	CCDC3	HGNC	HGNC:23813	protein_coding	YES	CCDS7093.1	ENSP00000368102	Q9BQI4		UPI000006E69C	NM_031455.3			1/3		hmmpanther:PTHR31663,hmmpanther:PTHR31663:SF4																	HIGH	1	SNV	1			1										PASS		rs1379657760	.												A	4	1	43	13001297	13001297	C	A	1	0	0	0	0	0	1	0	0	2514	864	30	2		2	CCDC3	10	13001297	Nonsense_Mutation	SNP	C	C3N-00217_TP	5036218	13001297	120796125	331	12769											
MRC1	0	.	GRCh38	chr10	17875251	17875251	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagaagtttctatggaaaTatgtaaggacatcaatcatt	18	12	7	4	0	3	1	2	0	1	1	3	3	3	3	0	2	0	2	0	2	8	5	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.2548T>A	p.Tyr850Asn	p.Y850N	ENST00000569591	17/30	124	93	31	191	191	0	strelka-varscan-mutect	MRC1,missense_variant,p.Tyr850Asn,ENST00000569591,NM_002438.3;	A	ENST00000569591	Transcript	missense_variant,splice_region_variant	2670/5198	2548/4371	850/1456	Y/N	Tat/Aat		1		1	MRC1	HGNC	HGNC:7228	protein_coding	YES	CCDS7123.2	ENSP00000455897	P22897		UPI000012EB9A	NM_002438.3	tolerated(0.06)		17/30		PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF73,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	17875251	17875251	T	A	1	0	0	0	0	1	0	0	0	9722	1420	49	4		4	MRC1	10	17875251	Missense_Mutation	SNP	T	C3N-00217_TP	4873954	17875251	115922171	332	12770											
PTF1A	0	.	GRCh38	chr10	23193716	23193716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtccagggtccccctcccCcagcgaccctgattatggcc	5	8	9	19	1	0	1	0	1	0	0	3	2	3	1	7	2	1	0	7	2	1	1			C3N-00217_TP	C3N-00217_NB	C	C																c.797C>G	p.Pro266Arg	p.P266R	ENST00000376504	2/2	382	256	126	335	335	0	strelka-varscan-mutect	PTF1A,missense_variant,p.Pro266Arg,ENST00000376504,NM_178161.2;	G	ENST00000376504	Transcript	missense_variant	1001/1537	797/987	266/328	P/R	cCc/cGc	COSM5666979	1		1	PTF1A	HGNC	HGNC:23734	protein_coding	YES	CCDS7143.1	ENSP00000365687	Q7RTS3		UPI000018F612	NM_178161.2	deleterious(0)		2/2		hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF59											1						MODERATE	1	SNV	2		1	1										PASS		.	.												G	3	3	43	23193716	23193716	C	G	1	0	0	0	0	1	0	0	0	12893	623	22	4		4	PTF1A	10	23193716	Missense_Mutation	SNP	C	C3N-00217_TP	5318465	23193716	110603706	333	12771											
MYO3A	0	.	GRCh38	chr10	26143561	26143561	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttactttccctacttgatgaAgaaagtagatttcccaaggc	12	13	7	9	0	0	4	0	2	0	2	2	4	2	4	2	1	2	1	2	1	6	6	rs758480848		C3N-00217_TP	C3N-00217_NB	A	A																c.2376A>T	p.Glu792Asp	p.E792D	ENST00000265944	21/35	313	215	98	325	325	0	strelka-varscan-mutect	MYO3A,missense_variant,p.Glu792Asp,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;	T	ENST00000265944	Transcript	missense_variant	2542/5581	2376/4851	792/1616	E/D	gaA/gaT	rs758480848	1		1	MYO3A	HGNC	HGNC:7601	protein_coding	YES	CCDS7148.1	ENSP00000265944	Q8NEV4		UPI000014140A	NM_017433.4	deleterious(0)		21/35		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF387,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs758480848	.												T	3	4	43	26143561	26143561	A	T	1	0	0	0	0	1	0	0	0	10077	69	3	4		4	MYO3A	10	26143561	Missense_Mutation	SNP	A	C3N-00217_TP	2949845	26143561	107653861	334	12772											
BMS1	0	.	GRCh38	chr10	42796733	42796733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaagaagacagtgaaatgGatttgccagcatttgctgac	13	10	12	6	0	0	4	0	2	0	2	0	6	0	6	1	2	3	2	1	2	3	2	rs758829653		C3N-00217_TP	C3N-00217_NB	G	G																c.1489G>T	p.Asp497Tyr	p.D497Y	ENST00000374518	10/23	360	251	109	338	338	0	strelka-varscan-mutect	BMS1,missense_variant,p.Asp497Tyr,ENST00000374518,NM_014753.3;	T	ENST00000374518	Transcript	missense_variant	1552/7753	1489/3849	497/1282	D/Y	Gat/Tat	rs758829653	1		1	BMS1	HGNC	HGNC:23505	protein_coding	YES	CCDS7199.1	ENSP00000363642	Q14692		UPI0000126A3E	NM_014753.3	deleterious(0)		10/23		hmmpanther:PTHR12858:SF2,hmmpanther:PTHR12858																	MODERATE	1	SNV	1			1										PASS		rs758829653	.												T	3	4	43	42796733	42796733	G	T	1	0	0	0	0	1	0	0	0	1627	1174	41	2		2	BMS1	10	42796733	Missense_Mutation	SNP	G	C3N-00217_TP	16653172	42796733	91000689	335	12773											
ZNF485	0	.	GRCh38	chr10	43616971	43616971	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaagcctttaggaagAgctcaactcttattagtcac	13	11	9	8	0	3	1	2	0	1	1	3	3	3	3	1	2	3	1	1	2	7	4	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.928A>T	p.Ser310Cys	p.S310C	ENST00000361807	5/5	135	94	41	184	183	1	strelka-varscan-mutect	ZNF485,missense_variant,p.Ser310Cys,ENST00000361807,NM_001318141.1,NM_145312.3;ZNF485,missense_variant,p.Ser310Cys,ENST00000374435,NM_001318140.1;ZNF485,downstream_gene_variant,,ENST00000430885,;	T	ENST00000361807	Transcript	missense_variant	1122/2054	928/1326	310/441	S/C	Agc/Tgc		1		1	ZNF485	HGNC	HGNC:23440	protein_coding	YES	CCDS7205.2	ENSP00000354694	Q8NCK3	A0A024R7T5	UPI00000717FE	NM_001318141.1,NM_145312.3	tolerated(0.08)		5/5		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF14,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	43616971	43616971	A	T	1	0	0	0	0	1	0	0	0	18510	304	11	4		4	ZNF485	10	43616971	Missense_Mutation	SNP	A	C3N-00217_TP	820238	43616971	90180451	336	12774											
FRMPD2	0	.	GRCh38	chr10	48232150	48232150	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaaagtaggtgagttccTcgaggttggcaaaggatgtc	11	9	14	7	1	0	1	0	1	0	0	3	3	1	2	2	4	1	4	2	4	3	3	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.1133A>T	p.Glu378Val	p.E378V	ENST00000374201	10/29	382	264	118	362	362	0	strelka-varscan-mutect	FRMPD2,missense_variant,p.Glu378Val,ENST00000374201,NM_001018071.3;FRMPD2,missense_variant,p.Glu354Val,ENST00000305531,NM_001318191.1;FRMPD2,missense_variant,p.Glu378Val,ENST00000636244,;FRMPD2,3_prime_UTR_variant,,ENST00000637395,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000486151,;	A	ENST00000374201	Transcript	missense_variant	1436/4997	1133/3930	378/1309	E/V	gAg/gTg		1		-1	FRMPD2	HGNC	HGNC:28572	protein_coding	YES	CCDS31195.1	ENSP00000363317	Q68DX3		UPI0000D60F5F	NM_001018071.3	tolerated(0.56)		10/29		PROSITE_profiles:PS50057,hmmpanther:PTHR19964:SF42,hmmpanther:PTHR19964,Gene3D:3.10.20.90,Pfam_domain:PF09379,SMART_domains:SM00295,Superfamily_domains:SSF54236,Prints_domain:PR00935																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	48232150	48232150	T	A	1	0	0	0	0	1	0	0	0	5928	1551	54	4		4	FRMPD2	10	48232150	Missense_Mutation	SNP	T	C3N-00217_TP	4615179	48232150	85565272	337	12775											
WDFY4	0	.	GRCh38	chr10	48867328	48867328	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctatatgcatctttatacAaagaccatgtgcaagtaaga	16	11	7	7	0	1	2	0	0	1	2	1	2	1	2	1	0	4	4	1	0	7	6	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.6727A>T	p.Lys2243Ter	p.K2243*	ENST00000325239	39/61	90	64	26	119	119	0	strelka-varscan-mutect	WDFY4,stop_gained,p.Lys2243Ter,ENST00000325239,NM_020945.1;WDFY4,stop_gained,p.Lys330Ter,ENST00000265453,;	T	ENST00000325239	Transcript	stop_gained	6727/9555	6727/9555	2243/3184	K/*	Aaa/Taa		1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1			39/61		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	43	48867328	48867328	A	T	1	0	0	0	0	0	1	0	0	17831	131	5	4		4	WDFY4	10	48867328	Nonsense_Mutation	SNP	A	C3N-00217_TP	635178	48867328	84930094	338	12776											
ERCC6	0	.	GRCh38	chr10	49482715	49482715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaagcatttgaatatcccCccatggtgatggggacggag	10	8	15	8	1	0	2	0	2	0	0	1	5	1	5	3	5	1	1	3	5	3	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2141G>T	p.Gly714Val	p.G714V	ENST00000355832	10/21	126	84	42	161	160	1	strelka-varscan-mutect	ERCC6,missense_variant,p.Gly714Val,ENST00000355832,NM_000124.3;ERCC6,non_coding_transcript_exon_variant,,ENST00000623115,;ERCC6,downstream_gene_variant,,ENST00000623318,;ERCC6,downstream_gene_variant,,ENST00000475116,;ERCC6,non_coding_transcript_exon_variant,,ENST00000623073,;	A	ENST00000355832	Transcript	missense_variant	2220/8008	2141/4482	714/1493	G/V	gGg/gTg		1		-1	ERCC6	HGNC	HGNC:3438	protein_coding	YES	CCDS7229.1	ENSP00000348089	Q03468		UPI000000D8DA	NM_000124.3	deleterious(0)		10/21		hmmpanther:PTHR10799:SF752,hmmpanther:PTHR10799,Pfam_domain:PF00176,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	49482715	49482715	C	A	1	0	0	0	0	1	0	0	0	5066	623	22	2		2	ERCC6	10	49482715	Missense_Mutation	SNP	C	C3N-00217_TP	615387	49482715	84314707	339	12777											
PCDH15	0	.	GRCh38	chr10	53831534	53831534	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtttgccatccaaaaatCtttattgttagataaatagt	14	16	6	5	0	1	1	0	0	1	1	2	1	2	1	2	0	1	3	2	0	8	8			C3N-00217_TP	C3N-00217_NB	C	C																c.3999-1G>T		p.X1333_splice	ENST00000373957		183	134	49	207	207	0	strelka-varscan-mutect	PCDH15,splice_acceptor_variant,,ENST00000614895,;PCDH15,splice_acceptor_variant,,ENST00000373965,NM_001142772.1;PCDH15,splice_acceptor_variant,,ENST00000414778,;PCDH15,splice_acceptor_variant,,ENST00000617051,;PCDH15,splice_acceptor_variant,,ENST00000373957,NM_001142763.1;PCDH15,splice_acceptor_variant,,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,splice_acceptor_variant,,ENST00000395430,NM_001142766.1;PCDH15,splice_acceptor_variant,,ENST00000395433,NM_001142773.1;PCDH15,splice_acceptor_variant,,ENST00000395432,NM_001142767.1;PCDH15,splice_acceptor_variant,,ENST00000320301,NM_033056.3;PCDH15,splice_acceptor_variant,,ENST00000622048,;PCDH15,splice_acceptor_variant,,ENST00000437009,NM_001142765.1;PCDH15,splice_acceptor_variant,,ENST00000617271,NM_001142770.1;PCDH15,splice_acceptor_variant,,ENST00000613657,NM_001142769.1;PCDH15,splice_acceptor_variant,,ENST00000395445,;PCDH15,splice_acceptor_variant,,ENST00000616114,;PCDH15,splice_acceptor_variant,,ENST00000395438,;PCDH15,splice_acceptor_variant,,ENST00000612394,;PCDH15,splice_acceptor_variant,,ENST00000621708,NM_001142771.1;PCDH15,splice_acceptor_variant,,ENST00000409834,;PCDH15,splice_acceptor_variant,,ENST00000495484,;PCDH15,splice_acceptor_variant,,ENST00000618301,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,splice_acceptor_variant,,ENST00000463095,;PCDH15,splice_acceptor_variant,,ENST00000448885,;PCDH15,splice_acceptor_variant,,ENST00000373956,;PCDH15,splice_acceptor_variant,,ENST00000414367,;	A	ENST00000373957	Transcript	splice_acceptor_variant	-/7032	3999/5889	1333/1962			COSM1585010,COSM3438852,COSM3438853,COSM3438854,COSM3438855,COSM918954,COSM918955,COSM918956	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1				30/34												1,1,1,1,1,1,1,1						HIGH	1	SNV	5		1,1,1,1,1,1,1,1	1										PASS		rs1057520709	.												A	5	1	43	53831534	53831534	C	A	1	0	0	0	0	0	0	1	0	11598	927	32	2		2	PCDH15	10	53831534	Splice_Site	SNP	C	C3N-00217_TP	4348819	53831534	79965888	340	12778											
ZNF365	0	.	GRCh38	chr10	62666181	62666181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccttcttacactaggaCaactccaaaattgtgtgatt	12	13	6	10	0	2	1	1	1	1	0	3	2	3	2	2	1	3	0	2	1	5	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1273C>A	p.Gln425Lys	p.Q425K	ENST00000410046	7/8	138	106	32	183	183	0	strelka-varscan-mutect	ZNF365,missense_variant,p.Gln425Lys,ENST00000410046,NM_199451.2;ZNF365,missense_variant,p.Gln179Lys,ENST00000395251,NM_199452.3;ZNF365,missense_variant,p.Gln179Lys,ENST00000614806,;ZNF365,missense_variant,p.Gln31Lys,ENST00000395249,;ZNF365,3_prime_UTR_variant,,ENST00000373784,;ZNF365,intron_variant,,ENST00000344640,;	A	ENST00000410046	Transcript	missense_variant	1553/3379	1273/1389	425/462	Q/K	Caa/Aaa		1		1	ZNF365	HGNC	HGNC:18194	protein_coding	YES	CCDS7264.1	ENSP00000387091	Q70YC5		UPI00002323B9	NM_199451.2	tolerated_low_confidence(0.15)		7/8																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	43	62666181	62666181	C	A	1	0	0	0	0	1	0	0	0	18441	479	17	2		2	ZNF365	10	62666181	Missense_Mutation	SNP	C	C3N-00217_TP	8834647	62666181	71131241	341	12779											
PRF1	0	.	GRCh38	chr10	70598326	70598326	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcacatccccaaaatcCagccgcactgaccagatggg	13	4	10	14	1	0	2	0	1	0	1	2	3	2	3	5	2	2	2	5	2	2	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1395G>T	p.=	p.L465L	ENST00000441259	3/3	263	171	92	259	259	0	strelka-varscan-mutect	PRF1,synonymous_variant,p.=,ENST00000441259,NM_001083116.1,NM_005041.4;PRF1,synonymous_variant,p.=,ENST00000373209,;	A	ENST00000441259	Transcript	synonymous_variant	1556/2533	1395/1668	465/555	L	ctG/ctT		1		-1	PRF1	HGNC	HGNC:9360	protein_coding	YES	CCDS7305.1	ENSP00000398568	P14222		UPI000013162B	NM_001083116.1,NM_005041.4			3/3		PROSITE_profiles:PS50004,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF3,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	43	70598326	70598326	C	A	1	0	0	0	0	0	0	0	1	12612	581	21	2		2	PRF1	10	70598326	Silent	SNP	C	C3N-00217_TP	7932145	70598326	63199096	342	12780											
CDH23	0	.	GRCh38	chr10	71643859	71643859	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaccgactcccattgacAgaatttggtaagtgagcctc	11	10	9	11	1	0	4	0	3	0	1	2	5	1	4	3	1	1	1	3	1	2	3	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1150-2A>G		p.X384_splice	ENST00000224721		131	96	35	115	115	0	strelka-varscan-mutect	CDH23,splice_acceptor_variant,,ENST00000224721,NM_022124.5;CDH23,splice_acceptor_variant,,ENST00000616684,NM_001171930.1;CDH23,splice_acceptor_variant,,ENST00000398809,;CDH23,splice_acceptor_variant,,ENST00000466757,;CDH23,splice_acceptor_variant,,ENST00000299366,NM_001171931.1;CDH23,splice_acceptor_variant,,ENST00000461841,NM_052836.3;CDH23,intron_variant,,ENST00000622827,;CDH23,intron_variant,,ENST00000398842,;CDH23,intron_variant,,ENST00000470494,;CDH23,upstream_gene_variant,,ENST00000442677,;	G	ENST00000224721	Transcript	splice_acceptor_variant	-/11139	1150/10080	384/3359				1		1	CDH23	HGNC	HGNC:13733	protein_coding			ENSP00000224721		A0A0A0MQS6	UPI0002B831D5	NM_022124.5				11/69																		HIGH		SNV	5			1										PASS		.	.												G	5	3	43	71643859	71643859	A	G	1	0	0	0	0	0	0	1	0	2811	202	7	5		5	CDH23	10	71643859	Splice_Site	SNP	A	C3N-00217_TP	1045533	71643859	62153563	343	12781											
CDH23	0	.	GRCh38	chr10	71709170	71709170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccgtggtgggcctggaccGggagaccacagccgcctaca	9	4	14	14	3	0	1	0	0	0	1	0	3	0	2	6	4	3	0	6	4	2	1	rs536438868		C3N-00217_TP	C3N-00217_NB	G	G																c.3194G>T	p.Arg1065Leu	p.R1065L	ENST00000224721	27/70	161	130	31	128	127	1	strelka-varscan-mutect	CDH23,missense_variant,p.Arg1065Leu,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Arg1060Leu,ENST00000622827,;CDH23,missense_variant,p.Arg652Leu,ENST00000442677,;CDH23,missense_variant,p.Arg1060Leu,ENST00000616684,NM_001171930.1;CDH23,missense_variant,p.Arg1060Leu,ENST00000398809,;CDH23,missense_variant,p.Arg871Leu,ENST00000466757,;C10orf105,downstream_gene_variant,,ENST00000441508,NM_001164375.2;C10orf105,downstream_gene_variant,,ENST00000398786,NM_001168390.1;CDH23,downstream_gene_variant,,ENST00000299366,NM_001171931.1;CDH23,upstream_gene_variant,,ENST00000398792,;	T	ENST00000224721	Transcript	missense_variant	3584/11139	3194/10080	1065/3359	R/L	cGg/cTg	rs536438868,COSM273631,COSM5120671	1		1	CDH23	HGNC	HGNC:13733	protein_coding			ENSP00000224721		A0A0A0MQS6	UPI0002B831D5	NM_022124.5	deleterious(0.04)		27/70		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1						MODERATE		SNV	5		0,1,1	1										PASS		rs536438868	.												T	3	4	43	71709170	71709170	G	T	1	0	0	0	0	1	0	0	0	2811	1116	39	1		1	CDH23	10	71709170	Missense_Mutation	SNP	G	C3N-00217_TP	65311	71709170	62088252	344	12782											
CDHR1	0	.	GRCh38	chr10	84202979	84202979	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcctccgattcttctgcaGgatggcggtgggaggcttca	5	11	15	10	2	3	0	1	0	2	0	4	3	4	2	2	6	1	2	2	6	0	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.640-1G>T		p.X214_splice	ENST00000623527		407	311	96	324	323	1	strelka-varscan-mutect	CDHR1,splice_acceptor_variant,,ENST00000623527,NM_033100.3;CDHR1,splice_acceptor_variant,,ENST00000372117,;CDHR1,splice_acceptor_variant,,ENST00000332904,NM_001171971.2;CDHR1,upstream_gene_variant,,ENST00000624091,;	T	ENST00000623527	Transcript	splice_acceptor_variant	-/6781	640/2580	214/859				1		1	CDHR1	HGNC	HGNC:14550	protein_coding	YES	CCDS7372.1	ENSP00000485478	Q96JP9	F1T0L2	UPI0000161C2F	NM_033100.3				7/16																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	43	84202979	84202979	G	T	1	0	0	0	0	0	0	1	0	2821	1014	35	2		2	CDHR1	10	84202979	Splice_Site	SNP	G	C3N-00217_TP	12493809	84202979	49594443	345	12783											
TNKS2	0	.	GRCh38	chr10	91859534	91859534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtacataggtggtatgtttgGagctggcatttattttgctg	7	17	13	4	0	0	0	0	0	0	0	0	1	0	1	0	4	3	6	0	4	4	8	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3167G>T	p.Gly1056Val	p.G1056V	ENST00000371627	25/27	150	117	33	193	193	0	strelka-varscan-mutect	TNKS2,missense_variant,p.Gly1056Val,ENST00000371627,NM_025235.3;	T	ENST00000371627	Transcript	missense_variant	3546/6157	3167/3501	1056/1166	G/V	gGa/gTa		1		1	TNKS2	HGNC	HGNC:15677	protein_coding	YES	CCDS7417.1	ENSP00000360689	Q9H2K2		UPI00000362BE	NM_025235.3	deleterious(0.01)		25/27		Gene3D:3.90.228.10,Pfam_domain:PF00644,PROSITE_profiles:PS51059,hmmpanther:PTHR24180,hmmpanther:PTHR24180:SF11,Superfamily_domains:SSF56399																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	91859534	91859534	G	T	1	0	0	0	0	1	0	0	0	16794	1174	41	2		2	TNKS2	10	91859534	Missense_Mutation	SNP	G	C3N-00217_TP	7656555	91859534	41937888	346	12784											
LCOR	0	.	GRCh38	chr10	96983770	96983770	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttatggaatggtgtgctGaggaggagaaccaagagctc	12	9	15	5	0	0	3	0	1	0	2	1	6	0	5	1	4	3	3	1	4	4	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.2380G>T	p.Glu794Ter	p.E794*	ENST00000286067	1/1	295	210	85	230	230	0	strelka-varscan-mutect	LCOR,stop_gained,p.Glu1076Ter,ENST00000421806,;LCOR,stop_gained,p.Glu794Ter,ENST00000286067,NM_015652.2;	T	ENST00000286067	Transcript	stop_gained	2487/4542	2380/3744	794/1247	E/*	Gag/Tag		1		1	LCOR	HGNC	HGNC:29503	protein_coding	YES	CCDS7452.1	ENSP00000286067	Q8N655		UPI000006F242	NM_015652.2			1/1		Pfam_domain:PF15090,hmmpanther:PTHR14931,hmmpanther:PTHR14931:SF2																	HIGH	1	SNV				1										PASS		.	.												T	4	4	43	96983770	96983770	G	T	1	0	0	0	0	0	1	0	0	8595	1291	45	2		2	LCOR	10	96983770	Nonsense_Mutation	SNP	G	C3N-00217_TP	5124236	96983770	36813652	347	12785											
DNMBP	0	.	GRCh38	chr10	99955762	99955762	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtggcgtaaaattttaTctggctctgtgccgggccct	9	12	11	9	2	2	0	0	0	2	0	2	0	2	0	2	3	1	2	2	3	5	3	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.1712A>T	p.Asp571Val	p.D571V	ENST00000324109	4/17	202	136	66	210	210	0	strelka-varscan-mutect	DNMBP,missense_variant,p.Asp571Val,ENST00000324109,NM_015221.2;DNMBP-AS1,non_coding_transcript_exon_variant,,ENST00000434409,;	A	ENST00000324109	Transcript	missense_variant	1804/6400	1712/4734	571/1577	D/V	gAt/gTt		1		-1	DNMBP	HGNC	HGNC:30373	protein_coding	YES	CCDS7485.1	ENSP00000315659	Q6XZF7		UPI000013D6C9	NM_015221.2	deleterious_low_confidence(0)		4/17		hmmpanther:PTHR22834:SF19,hmmpanther:PTHR22834																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	99955762	99955762	T	A	1	0	0	0	0	1	0	0	0	4487	1435	50	4		4	DNMBP	10	99955762	Missense_Mutation	SNP	T	C3N-00217_TP	2971992	99955762	33841660	348	12786											
SEC31B	0	.	GRCh38	chr10	100490731	100490731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccccagggctcaaaggCaaaggctggatggcctgggg	9	6	15	11	0	1	0	1	0	0	0	1	1	1	1	3	7	1	3	3	7	3	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2625G>T	p.Leu875Phe	p.L875F	ENST00000370345	20/26	54	39	15	47	47	0	strelka-varscan-mutect	SEC31B,missense_variant,p.Leu875Phe,ENST00000370345,NM_015490.3;SEC31B,3_prime_UTR_variant,,ENST00000479697,;SEC31B,3_prime_UTR_variant,,ENST00000462434,;SEC31B,3_prime_UTR_variant,,ENST00000469546,;SEC31B,3_prime_UTR_variant,,ENST00000482456,;SEC31B,downstream_gene_variant,,ENST00000484848,;SEC31B,upstream_gene_variant,,ENST00000492667,;SEC31B,upstream_gene_variant,,ENST00000485800,;	A	ENST00000370345	Transcript	missense_variant	2723/4612	2625/3540	875/1179	L/F	ttG/ttT		1		-1	SEC31B	HGNC	HGNC:23197	protein_coding	YES	CCDS7495.1	ENSP00000359370	Q9NQW1		UPI0000070A8E	NM_015490.3	tolerated(0.31)		20/26		hmmpanther:PTHR13923:SF22,hmmpanther:PTHR13923																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	100490731	100490731	C	A	1	0	0	0	0	1	0	0	0	14276	709	25	2		2	SEC31B	10	100490731	Missense_Mutation	SNP	C	C3N-00217_TP	534969	100490731	33306691	349	12787											
CFAP46	0	.	GRCh38	chr10	132835325	132835325	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctatgttcagggccatGtcctcactgtacacctgggc	7	10	11	13	0	2	0	2	0	0	0	3	1	3	0	4	2	2	2	4	2	2	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.6723C>T	p.=	p.D2241D	ENST00000368586	47/58	157	93	64	135	135	0	strelka-varscan-mutect	CFAP46,synonymous_variant,p.=,ENST00000368586,NM_001200049.2;CFAP46,synonymous_variant,p.=,ENST00000448925,;CFAP46,non_coding_transcript_exon_variant,,ENST00000476633,;	A	ENST00000368586	Transcript	synonymous_variant	6824/8278	6723/8148	2241/2715	D	gaC/gaT		1		-1	CFAP46	HGNC	HGNC:25247	protein_coding	YES	CCDS58101.1	ENSP00000357575	Q8IYW2		UPI0001B79116	NM_001200049.2			47/58																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	43	132835325	132835325	G	A	1	0	0	0	0	0	0	0	1	3021	1368	48	3		3	CFAP46	10	132835325	Silent	SNP	G	C3N-00217_TP	32344594	132835325	962097	350	12788											
OR51E2	0	.	GRCh38	chr11	4682047	4682047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagttgcagaaccgttCgtattatcagaaaataggac	15	9	10	7	2	1	2	1	0	0	2	2	3	1	3	1	2	2	5	1	2	7	5	rs565364663		C3N-00217_TP	C3N-00217_NB	C	C																c.665G>T	p.Arg222Leu	p.R222L	ENST00000396950	2/2	361	222	139	307	307	0	strelka-varscan-mutect	OR51E2,missense_variant,p.Arg222Leu,ENST00000396950,NM_030774.3;OR51E2,downstream_gene_variant,,ENST00000532598,;	A	ENST00000396950	Transcript	missense_variant	905/2781	665/963	222/320	R/L	cGa/cTa	rs565364663,COSM1353976,COSM4574388	1		-1	OR51E2	HGNC	HGNC:15195	protein_coding	YES	CCDS7751.1	ENSP00000380153	Q9H255	A0A126GVK0	UPI000003B49B	NM_030774.3	deleterious(0)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF92,Superfamily_domains:SSF81321											0,1,1						MODERATE	1	SNV			0,1,1	1										PASS		rs565364663	.												A	3	1	43	4682047	4682047	C	A	1	0	0	0	0	1	0	0	0	11169	884	31	1		1	OR51E2	11	4682047	Missense_Mutation	SNP	C	C3N-00217_TP		4682047	130404575	351	12789											
OR51G2	0	.	GRCh38	chr11	4915167	4915167	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggggaatcttttgagcataAaaggtaatggaaaaatgagt	17	10	12	2	0	1	2	0	2	1	0	1	4	1	4	0	4	1	2	0	4	6	4	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.497T>C	p.Phe166Ser	p.F166S	ENST00000322013	1/1	277	192	85	254	254	0	strelka-varscan-mutect	OR51G2,missense_variant,p.Phe166Ser,ENST00000322013,NM_001005238.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	G	ENST00000322013	Transcript	missense_variant	497/945	497/945	166/314	F/S	tTt/tCt		1		-1	OR51G2	HGNC	HGNC:15198	protein_coding	YES	CCDS31365.1	ENSP00000322593	Q8NGK0		UPI0000041C2F	NM_001005238.1	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF133,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												G	3	3	43	4915167	4915167	A	G	1	0	0	0	0	1	0	0	0	11171	14	1	5		5	OR51G2	11	4915167	Missense_Mutation	SNP	A	C3N-00217_TP	233120	4915167	130171455	352	12790											
OR51G2	0	.	GRCh38	chr11	4915256	4915256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgagaatggaaacataGtgcaaggggtggcagatagc	13	8	16	4	0	0	2	0	1	0	2	0	4	0	3	0	5	3	2	0	5	5	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.408C>A	p.His136Gln	p.H136Q	ENST00000322013	1/1	166	128	38	149	148	1	strelka-varscan-mutect	OR51G2,missense_variant,p.His136Gln,ENST00000322013,NM_001005238.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	T	ENST00000322013	Transcript	missense_variant	408/945	408/945	136/314	H/Q	caC/caA		1		-1	OR51G2	HGNC	HGNC:15198	protein_coding	YES	CCDS31365.1	ENSP00000322593	Q8NGK0		UPI0000041C2F	NM_001005238.1	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF133,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE		SNV				1										PASS		.	.												T	3	4	43	4915256	4915256	G	T	1	0	0	0	0	1	0	0	0	11171	1020	36	2		2	OR51G2	11	4915256	Missense_Mutation	SNP	G	C3N-00217_TP	89	4915256	130171366	353	12791											
OR52E2	0	.	GRCh38	chr11	5059092	5059092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacccatgtgctcacagtagGtgtggggaattacatgattc	10	11	12	8	0	1	1	1	1	0	0	2	3	1	2	1	3	2	2	1	3	3	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.536C>A	p.Thr179Asn	p.T179N	ENST00000321522	1/1	68	41	27	71	71	0	strelka-varscan-mutect	OR52E2,missense_variant,p.Thr179Asn,ENST00000321522,NM_001005164.2;	T	ENST00000321522	Transcript	missense_variant	536/978	536/978	179/325	T/N	aCc/aAc		1		-1	OR52E2	HGNC	HGNC:14769	protein_coding	YES	CCDS31371.1	ENSP00000322088	Q8NGJ4		UPI0000046AE3	NM_001005164.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF169,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1226206074	.												T	3	4	43	5059092	5059092	G	T	1	0	0	0	0	1	0	0	0	11187	1261	44	2		2	OR52E2	11	5059092	Missense_Mutation	SNP	G	C3N-00217_TP	143836	5059092	130027530	354	12792											
OR52A5	0	.	GRCh38	chr11	5132137	5132137	+	Frame_Shift_Del	DEL	A	A	-																															ctgtagttcgatagtgtttcAgacagcatttgatgagccct																								novel		C3N-00217_TP	C3N-00217_NB	A	A																c.506delT	p.Leu169ArgfsTer20	p.L169Rfs*20	ENST00000307388	1/1	179	114	65	201	201	0	sindel-varindel-pindel	OR52A5,frameshift_variant,p.Leu169ArgfsTer20,ENST00000307388,NM_001005160.2;	-	ENST00000307388	Transcript	frameshift_variant	506/951	506/951	169/316	L/X	cTg/cg		1		-1	OR52A5	HGNC	HGNC:19580	protein_coding	YES	CCDS31373.1	ENSP00000303469	Q9H2C5	A0A126GWD2	UPI0000046AEF	NM_001005160.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF48,SMART_domains:SM01381,Superfamily_domains:SSF81321																	HIGH	1	deletion				1										PASS		.	.												-	7	5	43	5132137	5132137	A	-	1	0	1	0	1	0	0	0	0	11183	188	7	0		0	OR52A5	11	5132137	Frame_Shift_Del	DEL	A	C3N-00217_TP	73045	5132137	129954485	355	12793											
OR51B5	0	.	GRCh38	chr11	5343244	5343244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtaggcctgggaaaagcagGccgcacttccaatctccctg	10	7	11	13	1	1	0	0	0	1	0	3	1	2	1	4	3	1	3	4	3	4	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.281C>A	p.Ala94Asp	p.A94D	ENST00000300773	1/1	182	102	80	129	129	0	strelka-varscan-mutect	OR51B5,missense_variant,p.Ala94Asp,ENST00000300773,NM_001005567.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,non_coding_transcript_exon_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	T	ENST00000300773	Transcript	missense_variant	281/939	281/939	94/312	A/D	gCc/gAc		1		-1	OR51B5	HGNC	HGNC:19599	protein_coding	YES	CCDS31378.1	ENSP00000300773	Q9H339		UPI000013E697	NM_001005567.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF76,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												T	3	4	43	5343244	5343244	G	T	1	0	0	0	0	1	0	0	0	11165	1203	42	2		2	OR51B5	11	5343244	Missense_Mutation	SNP	G	C3N-00217_TP	211107	5343244	129743378	356	12794											
PSMA1	0	.	GRCh38	chr11	14510925	14510925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcttaaggcacgcagacCatgtttaactagttcattta	11	14	6	10	1	2	1	1	0	1	1	3	1	2	1	1	1	1	4	1	1	4	7	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.589G>C	p.Gly197Arg	p.G197R	ENST00000418988	9/11	113	81	32	150	150	0	strelka-varscan-mutect	PSMA1,missense_variant,p.Gly166Arg,ENST00000530457,;PSMA1,missense_variant,p.Gly191Arg,ENST00000396394,NM_002786.3;PSMA1,missense_variant,p.Gly197Arg,ENST00000418988,NM_148976.2;PSMA1,non_coding_transcript_exon_variant,,ENST00000524606,;RP11-140L24.4,3_prime_UTR_variant,,ENST00000555531,;PSMA1,non_coding_transcript_exon_variant,,ENST00000528307,;PSMA1,non_coding_transcript_exon_variant,,ENST00000527632,;PSMA1,non_coding_transcript_exon_variant,,ENST00000531023,;PSMA1,downstream_gene_variant,,ENST00000529524,;PSMA1,downstream_gene_variant,,ENST00000533331,;PSMA1,downstream_gene_variant,,ENST00000531156,;PSMA1,downstream_gene_variant,,ENST00000526443,;	G	ENST00000418988	Transcript	missense_variant	917/1266	589/810	197/269	G/R	Ggt/Cgt		1		-1	PSMA1	HGNC	HGNC:9530	protein_coding	YES	CCDS31431.1	ENSP00000414359	P25786		UPI000002B1AC	NM_148976.2	deleterious(0)		9/11		PROSITE_profiles:PS51475,hmmpanther:PTHR11599:SF12,hmmpanther:PTHR11599,Gene3D:3.60.20.10,Pfam_domain:PF00227,Superfamily_domains:SSF56235																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	14510925	14510925	C	G	1	0	0	0	0	1	0	0	0	12817	594	21	4		4	PSMA1	11	14510925	Missense_Mutation	SNP	C	C3N-00217_TP	9167681	14510925	120575697	357	12795											
SLC17A6	0	.	GRCh38	chr11	22374864	22374864	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctttcaactacgacagTgagaaagatcatgaattgtg	14	12	9	6	1	3	3	2	2	1	2	3	6	3	3	0	0	2	0	0	0	4	4			C3N-00217_TP	C3N-00217_NB	T	T																c.1151T>A	p.Val384Glu	p.V384E	ENST00000263160	9/12	66	39	27	110	110	0	strelka-varscan-mutect	SLC17A6,missense_variant,p.Val384Glu,ENST00000263160,NM_020346.2;	A	ENST00000263160	Transcript	missense_variant	1588/3949	1151/1749	384/582	V/E	gTg/gAg	COSM378957	1		1	SLC17A6	HGNC	HGNC:16703	protein_coding	YES	CCDS7856.1	ENSP00000263160	Q9P2U8		UPI0000073F14	NM_020346.2	deleterious(0)		9/12		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF201,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	43	22374864	22374864	T	A	1	0	0	0	0	1	0	0	0	14686	1696	59	4		4	SLC17A6	11	22374864	Missense_Mutation	SNP	T	C3N-00217_TP	7863939	22374864	112711758	358	12796											
SLC17A6	0	.	GRCh38	chr11	22377654	22377654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaggccaatggaggttggCctagtggttgggaaaagaaa	13	7	15	6	0	0	1	0	0	0	1	0	3	0	3	2	6	0	2	2	6	5	3			C3N-00217_TP	C3N-00217_NB	C	C																c.1663C>T	p.Pro555Ser	p.P555S	ENST00000263160	12/12	198	138	60	174	174	0	strelka-varscan-mutect	SLC17A6,missense_variant,p.Pro555Ser,ENST00000263160,NM_020346.2;	T	ENST00000263160	Transcript	missense_variant	2100/3949	1663/1749	555/582	P/S	Cct/Tct	COSM4651918	1		1	SLC17A6	HGNC	HGNC:16703	protein_coding	YES	CCDS7856.1	ENSP00000263160	Q9P2U8		UPI0000073F14	NM_020346.2	tolerated(0.28)		12/12													1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	43	22377654	22377654	C	T	1	0	0	0	0	1	0	0	0	14686	739	26	3		3	SLC17A6	11	22377654	Missense_Mutation	SNP	C	C3N-00217_TP	2790	22377654	112708968	359	12797											
KIAA1549L	0	.	GRCh38	chr11	33543539	33543539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagctgctgtggaccattCtgggttgccagcttcagctt	5	13	12	11	0	2	0	1	0	1	0	2	1	2	1	2	2	6	6	2	2	0	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1085C>T	p.Ser362Phe	p.S362F	ENST00000321505	1/20	199	109	90	181	181	0	strelka-varscan-mutect	KIAA1549L,missense_variant,p.Ser362Phe,ENST00000321505,NM_012194.2;KIAA1549L,missense_variant,p.Ser362Phe,ENST00000265654,;KIAA1549L,intron_variant,,ENST00000526400,;	T	ENST00000321505	Transcript	missense_variant	1265/11678	1085/5550	362/1849	S/F	tCt/tTt		1		1	KIAA1549L	HGNC	HGNC:24836	protein_coding	YES	CCDS44565.2	ENSP00000315295	Q6ZVL6		UPI0000E59322	NM_012194.2	deleterious_low_confidence(0)		1/20		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	33543539	33543539	C	T	1	0	0	0	0	1	0	0	0	8121	913	32	3		3	KIAA1549L	11	33543539	Missense_Mutation	SNP	C	C3N-00217_TP	11165885	33543539	101543083	360	12798											
LRRC4C	0	.	GRCh38	chr11	40115858	40115858	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttcagtttagacaagtaTacaaaagctccattcgggat	13	12	7	9	1	1	1	1	0	0	1	4	2	3	2	2	1	2	3	2	1	6	6	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.435A>G	p.=	p.V145V	ENST00000278198	2/2	255	222	33	274	274	0	strelka-varscan-mutect	LRRC4C,synonymous_variant,p.=,ENST00000278198,;LRRC4C,synonymous_variant,p.=,ENST00000527150,;LRRC4C,synonymous_variant,p.=,ENST00000530763,NM_020929.2;LRRC4C,synonymous_variant,p.=,ENST00000528697,NM_001258419.1;LRRC4C,synonymous_variant,p.=,ENST00000619527,;LRRC4C,downstream_gene_variant,,ENST00000533474,;RP11-454H19.2,upstream_gene_variant,,ENST00000624239,;	C	ENST00000278198	Transcript	synonymous_variant	2399/4054	435/1923	145/640	V	gtA/gtG		1		-1	LRRC4C	HGNC	HGNC:29317	protein_coding	YES	CCDS31464.1	ENSP00000278198	Q9HCJ2		UPI000000D9A7				2/2		PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF8,Gene3D:3.80.10.10,Pfam_domain:PF13306,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	43	40115858	40115858	T	C	1	0	0	0	0	0	0	0	1	8903	1393	49	5		5	LRRC4C	11	40115858	Silent	SNP	T	C3N-00217_TP	6572319	40115858	94970764	361	12799											
SYT13	0	.	GRCh38	chr11	45252552	45252552	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcaaggtcagcgtcaGggtggctgtggggagctcct	5	9	17	10	1	3	0	3	0	0	0	5	1	5	1	2	6	2	2	2	6	1	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.715C>A	p.Leu239Met	p.L239M	ENST00000020926	4/6	210	124	86	131	131	0	strelka-varscan-mutect	SYT13,missense_variant,p.Leu239Met,ENST00000020926,NM_020826.2;SYT13,downstream_gene_variant,,ENST00000528101,;CTD-2560E9.5,upstream_gene_variant,,ENST00000534342,;CTD-2560E9.5,upstream_gene_variant,,ENST00000531663,;SYT13,3_prime_UTR_variant,,ENST00000533332,;	T	ENST00000020926	Transcript	missense_variant	827/5144	715/1281	239/426	L/M	Ctg/Atg		1		-1	SYT13	HGNC	HGNC:14962	protein_coding	YES	CCDS31470.1	ENSP00000020926	Q7L8C5		UPI000003AC01	NM_020826.2	deleterious(0.01)		4/6		Low_complexity_(Seg):seg,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF250,Pfam_domain:PF00168,Gene3D:2.60.40.150,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	45252552	45252552	G	T	1	0	0	0	0	1	0	0	0	15863	991	35	2		2	SYT13	11	45252552	Missense_Mutation	SNP	G	C3N-00217_TP	5136694	45252552	89834070	362	12800											
SYT13	0	.	GRCh38	chr11	45254363	45254363	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttccaactggcagccttctCtgggttccaggtctccatga	6	12	10	13	0	2	1	0	1	2	0	6	1	4	1	4	3	2	3	4	3	1	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.451G>C	p.Glu151Gln	p.E151Q	ENST00000020926	3/6	131	96	35	115	115	0	strelka-varscan-mutect	SYT13,missense_variant,p.Glu151Gln,ENST00000020926,NM_020826.2;SYT13,missense_variant,p.Glu111Gln,ENST00000528101,;CTD-2560E9.5,non_coding_transcript_exon_variant,,ENST00000531663,;CTD-2560E9.5,intron_variant,,ENST00000534342,;SYT13,3_prime_UTR_variant,,ENST00000533332,;	G	ENST00000020926	Transcript	missense_variant	563/5144	451/1281	151/426	E/Q	Gag/Cag		1		-1	SYT13	HGNC	HGNC:14962	protein_coding	YES	CCDS31470.1	ENSP00000020926	Q7L8C5		UPI000003AC01	NM_020826.2	tolerated(0.06)		3/6		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF250,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		rs1314970772	.												G	3	3	43	45254363	45254363	C	G	1	0	0	0	0	1	0	0	0	15863	922	32	4		4	SYT13	11	45254363	Missense_Mutation	SNP	C	C3N-00217_TP	1811	45254363	89832259	363	12801											
CREB3L1	0	.	GRCh38	chr11	46320283	46320283	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgccctcccgaagcctcctAttctacgatgacggggcagg	7	8	12	14	3	1	1	0	1	1	0	3	3	3	1	4	3	3	1	4	3	3	3	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1278A>G	p.=	p.L426L	ENST00000621158	11/12	79	56	23	63	63	0	strelka-varscan-mutect	CREB3L1,synonymous_variant,p.=,ENST00000621158,NM_052854.3;CREB3L1,downstream_gene_variant,,ENST00000530518,;CREB3L1,non_coding_transcript_exon_variant,,ENST00000534616,;CREB3L1,non_coding_transcript_exon_variant,,ENST00000616094,;	G	ENST00000621158	Transcript	synonymous_variant	1729/2687	1278/1560	426/519	L	ctA/ctG		1		1	CREB3L1	HGNC	HGNC:18856	protein_coding	YES	CCDS53620.1	ENSP00000481956	Q96BA8		UPI000004ABFF	NM_052854.3			11/12		hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF24																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	43	46320283	46320283	A	G	1	0	0	0	0	0	0	0	1	3656	436	16	5		5	CREB3L1	11	46320283	Silent	SNP	A	C3N-00217_TP	1065920	46320283	88766339	364	12802											
OR4C5	0	.	GRCh38	chr11	48365970	48365970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgacccatgccatggccaCcaggaggccacatacctgcc	9	4	9	19	1	0	0	0	0	0	0	0	2	0	1	8	3	3	0	8	3	1	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.496G>T	p.Val166Leu	p.V166L	ENST00000319813	1/1	281	194	87	269	269	0	strelka-varscan-mutect	OR4C5,missense_variant,p.Val166Leu,ENST00000319813,;	A	ENST00000319813	Transcript	missense_variant	496/981	496/981	166/326	V/L	Gtg/Ttg		1		-1	OR4C5	HGNC	HGNC:14702	protein_coding	YES		ENSP00000321338	Q8NGB2		UPI0000061EE9		tolerated_low_confidence(0.53)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF9,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1158789817	.												A	3	1	43	48365970	48365970	C	A	1	0	0	0	0	1	0	0	0	11128	507	18	2		2	OR4C5	11	48365970	Missense_Mutation	SNP	C	C3N-00217_TP	2045687	48365970	86720652	365	12803											
OR9G4	0	.	GRCh38	chr11	56743215	56743215	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtacaggacatttttacCaatggtggtgcatcacagaa	12	13	9	7	0	1	1	1	0	0	1	1	2	1	2	1	3	3	2	1	3	4	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.597G>T	p.Leu199Phe	p.L199F	ENST00000302957	1/1	162	96	66	226	225	1	strelka-varscan-mutect	OR9G4,missense_variant,p.Leu199Phe,ENST00000302957,NM_001005284.1;MIR6128,upstream_gene_variant,,ENST00000615528,;OR9G3P,downstream_gene_variant,,ENST00000525553,;	A	ENST00000302957	Transcript	missense_variant	597/985	597/984	199/327	L/F	ttG/ttT		1		-1	OR9G4	HGNC	HGNC:15322	protein_coding	YES	CCDS31537.1	ENSP00000307515	Q8NGQ1		UPI00001D77DB	NM_001005284.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF141,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs992888582	.												A	3	1	43	56743215	56743215	C	A	1	0	0	0	0	1	0	0	0	11318	593	21	2		2	OR9G4	11	56743215	Missense_Mutation	SNP	C	C3N-00217_TP	8377245	56743215	78343407	366	12804											
INCENP	0	.	GRCh38	chr11	62148757	62148757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaagagcagcagcgtctgGctgagcggcagctgcaggag	10	4	18	9	2	1	2	0	1	1	1	1	4	1	4	0	4	6	6	0	4	1	0	rs186337901		C3N-00217_TP	C3N-00217_NB	G	G																c.2302G>T	p.Ala768Ser	p.A768S	ENST00000394818	17/19	37	12	25	36	36	0	strelka-varscan-mutect	INCENP,missense_variant,p.Ala768Ser,ENST00000394818,NM_001040694.1;INCENP,missense_variant,p.Ala764Ser,ENST00000278849,NM_020238.2;INCENP,upstream_gene_variant,,ENST00000531099,;	T	ENST00000394818	Transcript	missense_variant	2504/3964	2302/2757	768/918	A/S	Gct/Tct	rs186337901	1		1	INCENP	HGNC	HGNC:6058	protein_coding	YES	CCDS44624.1	ENSP00000378295	Q9NQS7		UPI0000D7D6F3	NM_001040694.1	tolerated(0.07)		17/19		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13142:SF1,hmmpanther:PTHR13142																	MODERATE	1	SNV	1			1										PASS		rs186337901	.												T	3	4	43	62148757	62148757	G	T	1	0	0	0	0	1	0	0	0	7635	1203	42	2		2	INCENP	11	62148757	Missense_Mutation	SNP	G	C3N-00217_TP	5405542	62148757	72937865	367	12805											
AHNAK	0	.	GRCh38	chr11	62517501	62517501	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggcccagacacactcagcCcaggagcctggagtccaatc	11	4	11	15	0	1	1	1	0	0	1	3	4	2	3	4	3	2	0	4	3	1	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.16916G>T	p.Gly5639Val	p.G5639V	ENST00000378024	5/5	168	75	93	167	167	0	strelka-varscan-mutect	AHNAK,missense_variant,p.Gly5639Val,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	A	ENST00000378024	Transcript	missense_variant	17191/18787	16916/17673	5639/5890	G/V	gGg/gTg		1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2	deleterious(0)		5/5		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	43	62517501	62517501	C	A	1	0	0	0	0	1	0	0	0	491	623	22	2		2	AHNAK	11	62517501	Missense_Mutation	SNP	C	C3N-00217_TP	368744	62517501	72569121	368	12806											
FLRT1	0	.	GRCh38	chr11	64117358	64117358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggccctgagaaggtccGgggcatggccatcaaggaca	10	4	15	12	1	1	1	1	1	0	1	2	3	2	2	4	6	0	1	4	6	2	0	rs767022154		C3N-00217_TP	C3N-00217_NB	G	G																c.1091G>C	p.Arg364Pro	p.R364P	ENST00000246841	2/2	65	39	26	104	104	0	strelka-varscan-mutect	FLRT1,missense_variant,p.Arg364Pro,ENST00000246841,NM_013280.4;MACROD1,intron_variant,,ENST00000255681,NM_014067.3;RP11-21A7A.3,downstream_gene_variant,,ENST00000543817,;MACROD1,intron_variant,,ENST00000542359,;MACROD1,intron_variant,,ENST00000543422,;MACROD1,intron_variant,,ENST00000545464,;	C	ENST00000246841	Transcript	missense_variant	2134/3949	1091/2025	364/674	R/P	cGg/cCg	rs767022154,COSM4887990	1		1	FLRT1	HGNC	HGNC:3760	protein_coding	YES	CCDS8057.1	ENSP00000246841	Q9NZU1		UPI0000039F94	NM_013280.4	deleterious(0)		2/2		Gene3D:3.80.10.10,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF30,SMART_domains:SM00082,Superfamily_domains:SSF52058											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs767022154	.												C	3	2	43	64117358	64117358	G	C	1	0	0	0	0	1	0	0	0	5794	1116	39	4		4	FLRT1	11	64117358	Missense_Mutation	SNP	G	C3N-00217_TP	1599857	64117358	70969264	369	12807											
NRXN2	0	.	GRCh38	chr11	64661020	64661020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacacctctgggggcagggGcaggtccacccggcccccct	5	4	13	19	1	1	0	0	0	1	0	2	0	2	0	7	6	0	2	7	6	0	0			C3N-00217_TP	C3N-00217_NB	G	G																c.1918C>A	p.Pro640Thr	p.P640T	ENST00000265459	10/23	117	87	30	107	107	0	strelka-varscan-mutect	NRXN2,missense_variant,p.Pro640Thr,ENST00000265459,NM_015080.3;NRXN2,missense_variant,p.Pro609Thr,ENST00000377559,NM_138732.2;NRXN2,missense_variant,p.Pro633Thr,ENST00000409571,;NRXN2,missense_variant,p.Pro640Thr,ENST00000377551,;AP001092.4,downstream_gene_variant,,ENST00000433606,;NRXN2,non_coding_transcript_exon_variant,,ENST00000496291,;NRXN2,upstream_gene_variant,,ENST00000486057,;	T	ENST00000265459	Transcript	missense_variant	2380/6621	1918/5139	640/1712	P/T	Ccc/Acc	COSM5373213	1		-1	NRXN2	HGNC	HGNC:8009	protein_coding	YES	CCDS8077.1	ENSP00000265459	Q9P2S2		UPI0000130AA2	NM_015080.3	tolerated(0.36)		10/23		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF593,SMART_domains:SM00282,Superfamily_domains:SSF49899											1						MODERATE		SNV	5		1	1										PASS		.	.												T	3	4	43	64661020	64661020	G	T	1	0	0	0	0	1	0	0	0	10725	1203	42	2		2	NRXN2	11	64661020	Missense_Mutation	SNP	G	C3N-00217_TP	543662	64661020	70425602	370	12808											
NAALADL1	0	.	GRCh38	chr11	65058470	65058470	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgaggatgatccccagccCcaagagggcagcagccccca	10	2	12	17	1	0	2	0	1	0	1	1	4	1	3	7	2	3	2	7	2	1	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.52G>C	p.Gly18Arg	p.G18R	ENST00000358658	1/18	106	60	46	83	83	0	strelka-varscan-mutect	NAALADL1,missense_variant,p.Gly18Arg,ENST00000358658,NM_005468.2;NAALADL1,missense_variant,p.Gly18Arg,ENST00000340252,;NAALADL1,missense_variant,p.Gly18Arg,ENST00000356632,;NAALADL1,missense_variant,p.Gly18Arg,ENST00000355721,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000529274,;NAALADL1,non_coding_transcript_exon_variant,,ENST00000528977,;	G	ENST00000358658	Transcript	missense_variant	80/2699	52/2223	18/740	G/R	Ggg/Cgg		1		-1	NAALADL1	HGNC	HGNC:23536	protein_coding	YES	CCDS31604.1	ENSP00000351484	Q9UQQ1		UPI000013E761	NM_005468.2	tolerated(0.1)		1/18		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF50																	MODERATE	1	SNV	1			1										PASS		rs1390754962	.												G	3	3	43	65058470	65058470	C	G	1	0	0	0	0	1	0	0	0	10133	623	22	4		4	NAALADL1	11	65058470	Missense_Mutation	SNP	C	C3N-00217_TP	397450	65058470	70028152	371	12809											
SNX32	0	.	GRCh38	chr11	65850510	65850510	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcggcccaccccaccctgCgtcgagaccacaacttcttt	7	8	8	18	3	1	1	0	0	1	1	2	2	1	1	5	2	2	0	5	2	1	2	rs764719974		C3N-00217_TP	C3N-00217_NB	C	C																c.454C>G	p.Arg152Gly	p.R152G	ENST00000308342	5/13	218	173	45	178	178	0	strelka-varscan-mutect	SNX32,missense_variant,p.Arg152Gly,ENST00000308342,NM_152760.2;CFL1,downstream_gene_variant,,ENST00000525451,;CFL1,downstream_gene_variant,,ENST00000308162,NM_005507.2;CFL1,downstream_gene_variant,,ENST00000531407,;CFL1,downstream_gene_variant,,ENST00000527344,;CFL1,downstream_gene_variant,,ENST00000524553,;CFL1,downstream_gene_variant,,ENST00000532134,;CFL1,downstream_gene_variant,,ENST00000534769,;CFL1,downstream_gene_variant,,ENST00000530413,;CFL1,downstream_gene_variant,,ENST00000531413,;CFL1,intron_variant,,ENST00000527752,;SNX32,downstream_gene_variant,,ENST00000531795,;SNX32,non_coding_transcript_exon_variant,,ENST00000530101,;SNX32,non_coding_transcript_exon_variant,,ENST00000526972,;SNX32,non_coding_transcript_exon_variant,,ENST00000533298,;SNX32,non_coding_transcript_exon_variant,,ENST00000533236,;SNX32,non_coding_transcript_exon_variant,,ENST00000534387,;CFL1,downstream_gene_variant,,ENST00000530945,;SNX32,downstream_gene_variant,,ENST00000531503,;SNX32,downstream_gene_variant,,ENST00000524729,;	G	ENST00000308342	Transcript	missense_variant	879/2003	454/1212	152/403	R/G	Cgt/Ggt	rs764719974,COSM930513	1		1	SNX32	HGNC	HGNC:26423	protein_coding	YES	CCDS8113.2	ENSP00000310620	Q86XE0		UPI000000DAEA	NM_152760.2	deleterious(0.03)		5/13		PROSITE_profiles:PS50195,hmmpanther:PTHR10555:SF137,hmmpanther:PTHR10555,Gene3D:3.30.1520.10,Pfam_domain:PF00787,PIRSF_domain:PIRSF036924,Superfamily_domains:SSF64268											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs764719974	.												G	3	3	43	65850510	65850510	C	G	1	0	0	0	0	1	0	0	0	15223	768	27	4		4	SNX32	11	65850510	Missense_Mutation	SNP	C	C3N-00217_TP	792040	65850510	69236112	372	12810											
ANKRD13D	0	.	GRCh38	chr11	67292043	67292043	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccggcaggtggtgcatgtGgagacactggggctcactct	7	8	16	10	1	2	1	1	0	1	1	2	3	2	1	1	6	1	3	1	6	0	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.594G>T	p.=	p.V198V	ENST00000511455	6/15	63	36	27	24	24	0	strelka-varscan-mutect	ANKRD13D,synonymous_variant,p.=,ENST00000447274,;ANKRD13D,synonymous_variant,p.=,ENST00000308440,;ANKRD13D,synonymous_variant,p.=,ENST00000511455,NM_207354.2;ANKRD13D,synonymous_variant,p.=,ENST00000514166,;ANKRD13D,downstream_gene_variant,,ENST00000514779,;ANKRD13D,non_coding_transcript_exon_variant,,ENST00000506531,;ANKRD13D,non_coding_transcript_exon_variant,,ENST00000504729,;ANKRD13D,downstream_gene_variant,,ENST00000512101,;ANKRD13D,upstream_gene_variant,,ENST00000504186,;ANKRD13D,downstream_gene_variant,,ENST00000513460,;	T	ENST00000511455	Transcript	synonymous_variant	764/2139	594/1818	198/605	V	gtG/gtT		1		1	ANKRD13D	HGNC	HGNC:27880	protein_coding	YES	CCDS31616.2	ENSP00000427130	Q6ZTN6		UPI00001981D2	NM_207354.2			6/15		Pfam_domain:PF11904,hmmpanther:PTHR12447,hmmpanther:PTHR12447:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	67292043	67292043	G	T	1	0	0	0	0	0	0	0	1	745	1335	47	2		2	ANKRD13D	11	67292043	Silent	SNP	G	C3N-00217_TP	1441533	67292043	67794579	373	12811											
ANO1	0	.	GRCh38	chr11	70161240	70161240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgccttggccatgaactcctCcccctccgtgcggtccaaca	6	8	8	19	3	0	1	0	1	0	0	4	1	4	1	7	2	3	0	7	2	2	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1658C>T	p.Ser553Phe	p.S553F	ENST00000355303	17/26	322	206	116	331	331	0	strelka-varscan-mutect	ANO1,missense_variant,p.Ser553Phe,ENST00000355303,NM_018043.5;ANO1,missense_variant,p.Ser262Phe,ENST00000531349,;ANO1,missense_variant,p.Ser407Phe,ENST00000530676,;ANO1,missense_variant,p.Ser495Phe,ENST00000316296,;ANO1,missense_variant,p.Ser104Phe,ENST00000531300,;ANO1,upstream_gene_variant,,ENST00000529636,;	T	ENST00000355303	Transcript	missense_variant	1963/4790	1658/2961	553/986	S/F	tCc/tTc		1		1	ANO1	HGNC	HGNC:21625	protein_coding	YES	CCDS44663.1	ENSP00000347454	Q5XXA6		UPI000013CE03	NM_018043.5	tolerated(0.68)		17/26		Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	70161240	70161240	C	T	1	0	0	0	0	1	0	0	0	802	855	30	3		3	ANO1	11	70161240	Missense_Mutation	SNP	C	C3N-00217_TP	2869197	70161240	64925382	374	12812											
SHANK2	0	.	GRCh38	chr11	70502241	70502241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggtcatggacttggagCgcagggtgagggctgtggtc	6	8	19	8	2	1	1	1	1	0	0	2	4	1	3	1	6	1	2	1	6	0	1			C3N-00217_TP	C3N-00217_NB	C	C																c.479G>T	p.Arg160Leu	p.R160L	ENST00000338508	4/11	246	202	44	208	208	0	strelka-varscan-mutect	SHANK2,missense_variant,p.Arg159Leu,ENST00000409161,;SHANK2,missense_variant,p.Arg748Leu,ENST00000601538,NM_012309.4;SHANK2,missense_variant,p.Arg160Leu,ENST00000449833,;SHANK2,missense_variant,p.Arg160Leu,ENST00000338508,NM_133266.4;SHANK2,missense_variant,p.Arg37Leu,ENST00000424924,;SHANK2,missense_variant,p.Arg160Leu,ENST00000409530,;SHANK2,missense_variant,p.Arg159Leu,ENST00000412252,;SHANK2,missense_variant,p.Arg147Leu,ENST00000357171,;SHANK2,missense_variant,p.Arg160Leu,ENST00000449116,;SHANK2,intron_variant,,ENST00000426687,;	A	ENST00000338508	Transcript	missense_variant	530/7271	479/3786	160/1261	R/L	cGc/cTc	COSM4618969,COSM4618970,COSM4618971,COSM4618972	1		-1	SHANK2	HGNC	HGNC:14295	protein_coding	YES	CCDS76448.1	ENSP00000345193		A6NHU9	UPI0001B09234	NM_133266.4	deleterious(0)		4/11		hmmpanther:PTHR24135:SF17,hmmpanther:PTHR24135											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		rs932534804	.												A	3	1	43	70502241	70502241	C	A	1	0	0	0	0	1	0	0	0	14524	768	27	1		1	SHANK2	11	70502241	Missense_Mutation	SNP	C	C3N-00217_TP	341001	70502241	64584381	375	12813											
THAP12	0	.	GRCh38	chr11	76350869	76350869	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttttaaaagtctcttaggTattttccacagtttcggaat	11	18	6	6	1	1	0	0	0	1	0	4	1	2	1	1	2	0	2	1	2	5	8	rs571473617		C3N-00217_TP	C3N-00217_NB	T	T																c.2281A>G	p.Thr761Ala	p.T761A	ENST00000260045	5/5	19	15	4	36	36	0	varscan-mutect	THAP12,missense_variant,p.Thr761Ala,ENST00000260045,NM_004705.3;THAP12,downstream_gene_variant,,ENST00000531878,;THAP12,non_coding_transcript_exon_variant,,ENST00000529901,;THAP12,downstream_gene_variant,,ENST00000528993,;THAP12,downstream_gene_variant,,ENST00000525277,;	C	ENST00000260045	Transcript	missense_variant	2387/3300	2281/2286	761/761	T/A	Acc/Gcc	rs571473617,COSM3931443	1		-1	THAP12	HGNC	HGNC:9440	protein_coding	YES	CCDS8243.1	ENSP00000260045	O43422	A0A140VJQ7	UPI0000131030	NM_004705.3	tolerated_low_confidence(0.26)		5/5													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs571473617	.												C	3	2	43	76350869	76350869	T	C	1	0	0	0	0	1	0	0	0	16276	1638	57	5		5	THAP12	11	76350869	Missense_Mutation	SNP	T	C3N-00217_TP	5848628	76350869	58735753	376	12814											
UBTFL1	0	.	GRCh38	chr11	90086987	90086987	+	Silent	SNP	A	A	C																															gggcaagggctccaggctgcAggaacagattcatcacagac																								novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1038A>C	p.=	p.A346A	ENST00000530464	1/1	18	9	9	17	17	0	strelka-varscan-mutect	UBTFL1,synonymous_variant,p.=,ENST00000530464,NM_001143975.1;	C	ENST00000530464	Transcript	synonymous_variant	1038/1182	1038/1182	346/393	A	gcA/gcC		1		1	UBTFL1	HGNC	HGNC:14533	protein_coding	YES		ENSP00000485108	P0CB47		UPI0000185F50	NM_001143975.1			1/1		Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		.	.												C	2	2	43	90086987	90086987	A	C	1	0	0	0	0	0	0	0	1	17434	175	7	5		5	UBTFL1	11	90086987	Silent	SNP	A	C3N-00217_TP	13736118	90086987	44999635	377	12815	293	2									
UBTFL1	0	.	GRCh38	chr11	90086989	90086989	+	Missense_Mutation	SNP	G	G	T																															gcaagggctccaggctgcagGaacagattcatcacagacta																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1040G>T	p.Gly347Val	p.G347V	ENST00000530464	1/1	18	10	8	18	18	0	strelka-varscan-mutect	UBTFL1,missense_variant,p.Gly347Val,ENST00000530464,NM_001143975.1;	T	ENST00000530464	Transcript	missense_variant	1040/1182	1040/1182	347/393	G/V	gGa/gTa		1		1	UBTFL1	HGNC	HGNC:14533	protein_coding	YES		ENSP00000485108	P0CB47		UPI0000185F50	NM_001143975.1	tolerated(0.06)		1/1		Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	43	90086989	90086989	G	T	1	0	0	0	0	1	0	0	0	17434	1174	41	2		2	UBTFL1	11	90086989	Missense_Mutation	SNP	G	C3N-00217_TP	2	90086989	44999633	378	12816	293	2									
FAT3	0	.	GRCh38	chr11	92354372	92354372	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agattaaagcctatgatgccGactctggcttcaatggaaaa	14	10	9	8	1	2	2	1	1	1	1	2	4	2	3	2	2	2	1	2	2	6	3			C3N-00217_TP	C3N-00217_NB	G	G																c.1810G>C	p.Asp604His	p.D604H	ENST00000525166	1/27	106	63	43	234	234	0	strelka-varscan-mutect	FAT3,missense_variant,p.Asp754His,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Asp604His,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000528921,;	C	ENST00000525166	Transcript	missense_variant	1832/18699	1810/13320	604/4439	D/H	Gac/Cac	COSM3772109,COSM933058,COSM933059	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		deleterious(0)		1/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		rs1408408990	.												C	3	2	43	92354372	92354372	G	C	1	0	0	0	0	1	0	0	0	5551	1058	37	4		4	FAT3	11	92354372	Missense_Mutation	SNP	G	C3N-00217_TP	2267383	92354372	42732250	379	12817											
ARHGAP42	0	.	GRCh38	chr11	100687732	100687732	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttggacagcccagatttCagggagcgcttgcagtgtca	9	10	12	10	1	2	1	2	0	0	1	2	3	2	3	1	2	4	2	1	2	1	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.54C>T	p.=	p.F18F	ENST00000298815	1/24	85	77	8	131	129	2	varscan-mutect	ARHGAP42,synonymous_variant,p.=,ENST00000524892,;ARHGAP42,synonymous_variant,p.=,ENST00000298815,NM_152432.2;CTD-2383M3.1,non_coding_transcript_exon_variant,,ENST00000501397,;	T	ENST00000298815	Transcript	synonymous_variant	57/4752	54/2625	18/874	F	ttC/ttT		1		1	ARHGAP42	HGNC	HGNC:26545	protein_coding	YES		ENSP00000298815	A6NI28		UPI00005778C9	NM_152432.2			1/24		hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF3,Pfam_domain:PF16746,Superfamily_domains:SSF103657																	LOW		SNV	5			1										PASS		.	.												T	2	4	43	100687732	100687732	C	T	1	0	0	0	0	0	0	0	1	1013	825	29	3		3	ARHGAP42	11	100687732	Silent	SNP	C	C3N-00217_TP	8333360	100687732	34398890	380	12818											
ABCG4	0	.	GRCh38	chr11	119158607	119158607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggttattggcgtgctcatCggcctcctctacctgcatat	5	14	10	12	2	2	0	1	0	1	0	4	0	3	0	3	3	3	3	3	3	3	4	rs145578285		C3N-00217_TP	C3N-00217_NB	C	C																c.1218C>T	p.=	p.I406I	ENST00000619701	11/15	186	111	75	245	243	2	strelka-varscan-mutect	ABCG4,synonymous_variant,p.=,ENST00000619701,NM_022169.4;ABCG4,synonymous_variant,p.=,ENST00000622721,;ABCG4,synonymous_variant,p.=,ENST00000615496,NM_001142505.1;ABCG4,downstream_gene_variant,,ENST00000524604,;ABCG4,non_coding_transcript_exon_variant,,ENST00000533694,;ABCG4,downstream_gene_variant,,ENST00000534402,;	T	ENST00000619701	Transcript	synonymous_variant	1582/3852	1218/1941	406/646	I	atC/atT	rs145578285,COSM2106515	1		1	ABCG4	HGNC	HGNC:13884	protein_coding	YES	CCDS8415.1	ENSP00000481728	Q9H172		UPI000000D999	NM_022169.4			11/15		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF211,Pfam_domain:PF01061											0,1						LOW	1	SNV	1		0,1	1										PASS		rs145578285	.												T	2	4	43	119158607	119158607	C	T	1	0	0	0	0	0	0	0	1	74	874	31	1		1	ABCG4	11	119158607	Silent	SNP	C	C3N-00217_TP	18470875	119158607	15928015	381	12819											
ZNF202	0	.	GRCh38	chr11	123726468	123726468	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtctgacaaggtctgaagtCcagcggaagtgctttccgca	9	10	12	10	2	2	2	0	2	2	0	4	3	4	3	2	2	2	2	2	2	3	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1476G>A	p.Trp492Ter	p.W492*	ENST00000336139	8/8	130	123	7	190	190	0	varscan-mutect	ZNF202,stop_gained,p.Trp492Ter,ENST00000336139,NM_001301779.1;ZNF202,stop_gained,p.Trp492Ter,ENST00000530393,NM_003455.3;ZNF202,stop_gained,p.Trp492Ter,ENST00000529691,NM_001301819.1,NM_001301780.1;ZNF202,downstream_gene_variant,,ENST00000533463,;ZNF202,downstream_gene_variant,,ENST00000526252,;ZNF202,downstream_gene_variant,,ENST00000528306,;ZNF202,downstream_gene_variant,,ENST00000530944,;ZNF202,downstream_gene_variant,,ENST00000529250,;	T	ENST00000336139	Transcript	stop_gained	1839/4130	1476/1947	492/648	W/*	tgG/tgA		1		-1	ZNF202	HGNC	HGNC:12994	protein_coding	YES	CCDS8443.1	ENSP00000337724	O95125	A0A024R3M3	UPI000013E581	NM_001301779.1			8/8		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF219,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	43	123726468	123726468	C	T	1	0	0	0	0	0	1	0	0	18340	856	30	3		3	ZNF202	11	123726468	Nonsense_Mutation	SNP	C	C3N-00217_TP	4567861	123726468	11360154	382	12820											
HEPACAM	0	.	GRCh38	chr11	124923916	124923916	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaggtgtagctgggcttGgtgccattctcatgtgagca	7	11	14	9	0	1	1	1	1	1	0	2	1	1	1	2	3	4	4	2	3	1	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.522C>A	p.=	p.T174T	ENST00000298251	3/7	300	181	119	355	355	0	strelka-varscan-mutect	HEPACAM,synonymous_variant,p.=,ENST00000298251,NM_152722.4;HEPN1,downstream_gene_variant,,ENST00000408930,NM_001037558.2;HEPACAM,non_coding_transcript_exon_variant,,ENST00000526273,;HEPACAM,downstream_gene_variant,,ENST00000528971,;	T	ENST00000298251	Transcript	synonymous_variant	928/3602	522/1251	174/416	T	acC/acA		1		-1	HEPACAM	HGNC	HGNC:26361	protein_coding	YES	CCDS8456.1	ENSP00000298251	Q14CZ8		UPI000013E4B5	NM_152722.4			3/7		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR12080,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	124923916	124923916	G	T	1	0	0	0	0	0	0	0	1	6936	1335	47	2		2	HEPACAM	11	124923916	Silent	SNP	G	C3N-00217_TP	1197448	124923916	10162706	383	12821											
FLI1	0	.	GRCh38	chr11	128810478	128810478	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgggcagatccagctGtggcaattcctcctggagct	8	8	14	11	1	0	1	0	0	0	1	3	3	3	3	3	4	3	4	3	4	2	1			C3N-00217_TP	C3N-00217_NB	G	G																c.849G>T	p.=	p.L283L	ENST00000527786	9/9	140	75	65	158	158	0	strelka-varscan-mutect	FLI1,synonymous_variant,p.=,ENST00000281428,NM_001271010.1;FLI1,synonymous_variant,p.=,ENST00000527786,NM_002017.4;FLI1,synonymous_variant,p.=,ENST00000534087,NM_001167681.2;FLI1,synonymous_variant,p.=,ENST00000344954,NM_001271012.1;FLI1,3_prime_UTR_variant,,ENST00000429175,;FLI1,3_prime_UTR_variant,,ENST00000608303,;FLI1,non_coding_transcript_exon_variant,,ENST00000528790,;	T	ENST00000527786	Transcript	synonymous_variant	1338/4127	849/1359	283/452	L	ctG/ctT	COSM81190	1		1	FLI1	HGNC	HGNC:3749	protein_coding	YES	CCDS44768.1	ENSP00000433488	Q01543	A0A024R3M5	UPI000012A972	NM_002017.4			9/9		Gene3D:1.10.10.10,Pfam_domain:PF00178,Prints_domain:PR00454,PROSITE_patterns:PS00345,PROSITE_profiles:PS50061,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF161,SMART_domains:SM00413,Superfamily_domains:SSF46785											1						LOW	1	SNV	1		1	1										PASS		rs1179005819	.												T	2	4	43	128810478	128810478	G	T	1	0	0	0	0	0	0	0	1	5786	1364	48	2		2	FLI1	11	128810478	Silent	SNP	G	C3N-00217_TP	3886562	128810478	6276144	384	12822											
CACNA1C	0	.	GRCh38	chr12	2566528	2566528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtgttcctcaacacgCtcaccattgcctctgagcac	7	11	7	16	1	3	1	2	1	1	0	5	1	5	1	4	1	3	3	4	1	1	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1615C>T	p.Leu539Phe	p.L539F	ENST00000347598	12/49	122	109	13	146	146	0	strelka-varscan-mutect	CACNA1C,missense_variant,p.Leu539Phe,ENST00000399655,NM_000719.6;CACNA1C,missense_variant,p.Leu539Phe,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Leu539Phe,ENST00000406454,;CACNA1C,missense_variant,p.Leu539Phe,ENST00000399617,NM_001167624.2;CACNA1C,missense_variant,p.Leu539Phe,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Leu564Phe,ENST00000335762,;CACNA1C,missense_variant,p.Leu539Phe,ENST00000480911,;CACNA1C,missense_variant,p.Leu539Phe,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,missense_variant,p.Leu539Phe,ENST00000344100,NM_001129829.1;CACNA1C,missense_variant,p.Leu539Phe,ENST00000327702,NM_001129830.2;CACNA1C,missense_variant,p.Leu539Phe,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Leu539Phe,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Leu539Phe,ENST00000399621,NM_001129834.1;CACNA1C,missense_variant,p.Leu539Phe,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Leu539Phe,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Leu539Phe,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Leu539Phe,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,missense_variant,p.Leu539Phe,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Leu539Phe,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Leu539Phe,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,missense_variant,p.Leu539Phe,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Leu539Phe,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Leu539Phe,ENST00000399644,NM_001129841.1;CACNA1C,non_coding_transcript_exon_variant,,ENST00000491104,;	T	ENST00000347598	Transcript	missense_variant	1615/6655	1615/6561	539/2186	L/F	Ctc/Ttc		1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3	deleterious(0.02)		12/49		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	2566528	2566528	C	T	1	0	0	0	0	1	0	0	0	2228	797	28	3		3	CACNA1C	12	2566528	Missense_Mutation	SNP	C	C3N-00217_TP		2566528	130708781	385	12823											
KCNA1	0	.	GRCh38	chr12	4911937	4911937	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccatcgtcatcttttgcctgGagacgctccccgagctgaag	7	10	10	14	3	2	2	1	1	1	1	4	4	3	2	4	1	2	2	4	1	1	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.559G>C	p.Glu187Gln	p.E187Q	ENST00000382545	2/2	132	118	14	120	120	0	strelka-varscan-mutect	KCNA1,missense_variant,p.Glu187Gln,ENST00000382545,NM_000217.2;KCNA1,intron_variant,,ENST00000543874,;KCNA1,intron_variant,,ENST00000541095,;	C	ENST00000382545	Transcript	missense_variant	1666/7976	559/1488	187/495	E/Q	Gag/Cag		1		1	KCNA1	HGNC	HGNC:6218	protein_coding	YES	CCDS8535.1	ENSP00000371985	Q09470		UPI000013C8E0	NM_000217.2	deleterious(0)		2/2		Gene3D:1.20.120.350,Pfam_domain:PF00520,Prints_domain:PR00169,Prints_domain:PR01496,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF24,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	4			1										PASS		.	.												C	3	2	43	4911937	4911937	G	C	1	0	0	0	0	1	0	0	0	7917	1175	41	4		4	KCNA1	12	4911937	Missense_Mutation	SNP	G	C3N-00217_TP	2345409	4911937	128363372	386	12824											
KCNA5	0	.	GRCh38	chr12	5044351	5044351	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggagtgcggcccttgccTccgctgccggacccgggagt	3	7	16	15	5	0	0	0	0	0	0	2	3	1	3	5	4	3	1	5	4	0	1	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.204T>A	p.=	p.P68P	ENST00000252321	1/1	51	36	15	52	52	0	strelka-varscan-mutect	KCNA5,synonymous_variant,p.=,ENST00000252321,NM_002234.3;	A	ENST00000252321	Transcript	synonymous_variant	363/2800	204/1842	68/613	P	ccT/ccA		1		1	KCNA5	HGNC	HGNC:6224	protein_coding	YES	CCDS8536.1	ENSP00000252321	P22460		UPI000013CD56	NM_002234.3			1/1		Prints_domain:PR01512,Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		.	.												A	2	1	43	5044351	5044351	T	A	1	0	0	0	0	0	0	0	1	7922	1538	54	4		4	KCNA5	12	5044351	Silent	SNP	T	C3N-00217_TP	132414	5044351	128230958	387	12825											
VWF	0	.	GRCh38	chr12	6013512	6013513	+	Frame_Shift_Ins	INS	-	-	A																															tgtggaggaaggaattgcccINSaaggtgaccatggtagggag																								novel		C3N-00217_TP	C3N-00217_NB	-	-																c.5588dupT	p.Leu1863PhefsTer15	p.L1863Ffs*15	ENST00000261405	32/52	426	290	136	414	414	0	sindel-varindel-pindel	VWF,frameshift_variant,p.Leu1863PhefsTer15,ENST00000261405,NM_000552.3;VWF,intron_variant,,ENST00000538635,;	A	ENST00000261405	Transcript	frameshift_variant	5843-5844/8838	5588-5589/8442	1863/2813	L/FX	ttg/ttTg		1		-1	VWF	HGNC	HGNC:12726	protein_coding	YES	CCDS8539.1	ENSP00000261405	P04275		UPI00001AE7EE	NM_000552.3			32/52		PROSITE_profiles:PS50234,Gene3D:3.40.50.410,PIRSF_domain:PIRSF002495,SMART_domains:SM00327,Superfamily_domains:SSF53300																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	43	6013512	6013512	-	A	1	0	1	1	0	0	0	0	0	17806	593	21	0		0	VWF	12	6013512	Frame_Shift_Ins	INS	-	C3N-00217_TP	969161	6013512	127261797	388	12826											
CD163	0	.	GRCh38	chr12	7481160	7481160	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accctccaagaacccacagaCctgaggaattcattaggtcc	13	7	7	14	0	1	3	1	1	0	2	3	4	3	4	5	2	1	0	5	2	4	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.3343+1G>A		p.X1115_splice	ENST00000359156		87	63	24	71	71	0	strelka-varscan-mutect	CD163,splice_donor_variant,,ENST00000359156,NM_004244.5;CD163,splice_donor_variant,,ENST00000396620,;CD163,splice_donor_variant,,ENST00000432237,NM_203416.3;CD163,splice_donor_variant,,ENST00000541972,;CD163,intron_variant,,ENST00000537626,;CD163,intron_variant,,ENST00000542280,;CD163L1,upstream_gene_variant,,ENST00000543276,;CD163,downstream_gene_variant,,ENST00000539632,;CD163,non_coding_transcript_exon_variant,,ENST00000537044,;CD163,downstream_gene_variant,,ENST00000538840,;	T	ENST00000359156	Transcript	splice_donor_variant	-/4268	3343/3471	1115/1156				1		-1	CD163	HGNC	HGNC:1631	protein_coding	YES	CCDS8578.1	ENSP00000352071	Q86VB7		UPI00004565CC	NM_004244.5				15/16																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	43	7481160	7481160	C	T	1	0	0	0	0	0	0	1	0	2670	521	18	3		3	CD163	12	7481160	Splice_Site	SNP	C	C3N-00217_TP	1467648	7481160	125794149	389	12827											
A2M	0	.	GRCh38	chr12	9072369	9072369	+	Frame_Shift_Del	DEL	G	G	-																															aaggtcttacctgacacttaGggagatttggaagctggtgt																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.4093delC	p.Leu1365Ter	p.L1365*	ENST00000318602	31/36	193	150	43	224	224	0	sindel-varindel-pindel	A2M,frameshift_variant,p.Leu1365Ter,ENST00000318602,NM_000014.4;A2M-AS1,downstream_gene_variant,,ENST00000499762,;A2M,intron_variant,,ENST00000543436,;A2M,downstream_gene_variant,,ENST00000545828,;A2M,upstream_gene_variant,,ENST00000495442,;A2M,upstream_gene_variant,,ENST00000495709,;	-	ENST00000318602	Transcript	frameshift_variant	4401/4844	4093/4425	1365/1474	L/X	Cta/ta		1		-1	A2M	HGNC	HGNC:7	protein_coding	YES	CCDS44827.1	ENSP00000323929	P01023		UPI000014038F	NM_000014.4			31/36		Gene3D:1ayoA00,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF103,Superfamily_domains:SSF49410																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	43	9072369	9072369	G	-	1	0	1	0	1	0	0	0	0	3	991	35	0		0	A2M	12	9072369	Frame_Shift_Del	DEL	G	C3N-00217_TP	1591209	9072369	124202940	390	12828											
MANSC1	0	.	GRCh38	chr12	12330862	12330862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aataatctgtgtgatgatggGctaggggagtgactgcttgt	9	13	15	4	0	1	3	0	3	1	0	1	4	1	4	0	3	1	2	0	3	3	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.461C>T	p.Ala154Val	p.A154V	ENST00000535902	4/4	130	97	33	151	151	0	strelka-varscan-mutect	MANSC1,missense_variant,p.Ala154Val,ENST00000535902,NM_018050.2;MANSC1,missense_variant,p.Ala120Val,ENST00000396349,;MANSC1,missense_variant,p.Ala73Val,ENST00000545735,;	A	ENST00000535902	Transcript	missense_variant	1025/5831	461/1296	154/431	A/V	gCc/gTc		1		-1	MANSC1	HGNC	HGNC:25505	protein_coding	YES	CCDS8648.1	ENSP00000438205	Q9H8J5		UPI0000049E05	NM_018050.2	tolerated(1)		4/4		hmmpanther:PTHR16021,hmmpanther:PTHR16021:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	12330862	12330862	G	A	1	0	0	0	0	1	0	0	0	9145	1203	42	3		3	MANSC1	12	12330862	Missense_Mutation	SNP	G	C3N-00217_TP	3258493	12330862	120944447	391	12829											
PDE3A	0	.	GRCh38	chr12	20637223	20637223	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atataggaagaaaatgtggcCgtattcttagtcaggtaaga	15	11	11	4	1	2	2	1	0	1	2	2	3	2	3	1	3	0	2	1	3	8	6	rs373818809		C3N-00217_TP	C3N-00217_NB	C	C																c.2125C>A	p.Arg709Ser	p.R709S	ENST00000359062	9/16	61	44	17	104	104	0	strelka-varscan-mutect	PDE3A,missense_variant,p.Arg709Ser,ENST00000359062,NM_000921.4,NM_001244683.1;PDE3A,non_coding_transcript_exon_variant,,ENST00000544307,;	A	ENST00000359062	Transcript	missense_variant	2165/7576	2125/3426	709/1141	R/S	Cgt/Agt	rs373818809,COSM283903	1		1	PDE3A	HGNC	HGNC:8778	protein_coding	YES	CCDS31754.1	ENSP00000351957	Q14432		UPI000014175F	NM_000921.4,NM_001244683.1	deleterious(0.01)		9/16		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF104,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs373818809	.												A	3	1	43	20637223	20637223	C	A	1	0	0	0	0	1	0	0	0	11725	652	23	1		1	PDE3A	12	20637223	Missense_Mutation	SNP	C	C3N-00217_TP	8306361	20637223	112638086	392	12830											
ABCC9	0	.	GRCh38	chr12	21895293	21895293	+	Frame_Shift_Del	DEL	G	G	-																															acagcaagaacagctgctatGggaattgctgcattcatgaa																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1641delC	p.Ile548Ter	p.I548*	ENST00000261200	11/38	79	60	19	169	169	0	sindel-varindel-pindel	ABCC9,frameshift_variant,p.Ile548Ter,ENST00000261200,NM_020297.3;ABCC9,frameshift_variant,p.Ile548Ter,ENST00000261201,NM_005691.3;ABCC9,frameshift_variant,p.Ile211Ter,ENST00000544039,;	-	ENST00000261200	Transcript	frameshift_variant	1641/8293	1641/4650	547/1549	P/X	ccC/cc		1		-1	ABCC9	HGNC	HGNC:60	protein_coding	YES	CCDS8693.1	ENSP00000261200	O60706		UPI000013D13F	NM_020297.3			11/38		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	43	21895293	21895293	G	-	1	0	1	0	1	0	0	0	0	63	1335	47	0		0	ABCC9	12	21895293	Frame_Shift_Del	DEL	G	C3N-00217_TP	1258070	21895293	111380016	393	12831											
SYT10	0	.	GRCh38	chr12	33426263	33426263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgatttttattgcaggCtcaatagcttttacggctgg	7	16	11	7	1	1	1	1	1	0	0	1	1	1	1	0	4	3	5	0	4	4	7	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.384G>T	p.Glu128Asp	p.E128D	ENST00000228567	2/7	291	211	80	296	294	2	strelka-varscan-mutect	SYT10,missense_variant,p.Glu128Asp,ENST00000228567,NM_198992.3;SYT10,upstream_gene_variant,,ENST00000567656,;SYT10,missense_variant,p.Glu128Asp,ENST00000539102,;	A	ENST00000228567	Transcript	missense_variant	681/4461	384/1572	128/523	E/D	gaG/gaT		1		-1	SYT10	HGNC	HGNC:19266	protein_coding	YES	CCDS8732.1	ENSP00000228567	Q6XYQ8		UPI0000052B30	NM_198992.3	tolerated(0.15)		2/7		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF46																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	33426263	33426263	C	A	1	0	0	0	0	1	0	0	0	15860	796	28	2		2	SYT10	12	33426263	Missense_Mutation	SNP	C	C3N-00217_TP	11530970	33426263	99849046	394	12832											
DDN	0	.	GRCh38	chr12	48997767	48997767	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttctttcccttccctcgagCccttgaggtggtgcctggat	3	14	10	14	1	1	1	0	1	1	0	4	3	3	2	4	3	2	0	4	3	0	4	rs773498346		C3N-00217_TP	C3N-00217_NB	C	C																c.1109G>C	p.Gly370Ala	p.G370A	ENST00000421952	2/2	49	30	19	34	34	0	strelka-mutect	DDN,missense_variant,p.Gly370Ala,ENST00000421952,NM_015086.1;PRKAG1,downstream_gene_variant,,ENST00000548065,NM_002733.4;PRKAG1,downstream_gene_variant,,ENST00000316299,NM_001206709.1;PRKAG1,downstream_gene_variant,,ENST00000547306,;PRKAG1,downstream_gene_variant,,ENST00000552212,NM_001206710.1;PRKAG1,downstream_gene_variant,,ENST00000551770,;PRKAG1,downstream_gene_variant,,ENST00000548362,;RP11-386G11.5,upstream_gene_variant,,ENST00000547866,;RP11-386G11.5,upstream_gene_variant,,ENST00000552933,;RP11-386G11.5,upstream_gene_variant,,ENST00000552284,;RP11-386G11.5,upstream_gene_variant,,ENST00000547395,;RP11-386G11.3,downstream_gene_variant,,ENST00000549516,;PRKAG1,downstream_gene_variant,,ENST00000546531,;	G	ENST00000421952	Transcript	missense_variant	1131/3749	1109/2136	370/711	G/A	gGc/gCc	rs773498346	1		-1	DDN	HGNC	HGNC:24458	protein_coding	YES	CCDS31791.2	ENSP00000390590	O94850		UPI000019821C	NM_015086.1	deleterious_low_confidence(0.01)		2/2		Pfam_domain:PF15498,hmmpanther:PTHR16757																	MODERATE	1	SNV	1			1										PASS		rs773498346	.												G	3	3	43	48997767	48997767	C	G	1	0	0	0	0	1	0	0	0	4137	739	26	4		4	DDN	12	48997767	Missense_Mutation	SNP	C	C3N-00217_TP	15571504	48997767	84277542	395	12833											
KMT2D	0	.	GRCh38	chr12	49032024	49032024	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgctgcagctgccgctgCatgaggagtgcctgtagctg	5	10	14	12	1	1	1	0	1	1	0	1	2	1	2	2	1	7	7	2	1	1	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.12681G>T	p.Met4227Ile	p.M4227I	ENST00000301067	39/54	67	51	16	62	61	1	strelka-varscan-mutect	KMT2D,missense_variant,p.Met4227Ile,ENST00000301067,NM_003482.3;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000552391,;	A	ENST00000301067	Transcript	missense_variant	12681/19419	12681/16614	4227/5537	M/I	atG/atT		1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3	tolerated_low_confidence(0.11)		39/54		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	43	49032024	49032024	C	A	1	0	0	0	0	1	0	0	0	8298	710	25	2		2	KMT2D	12	49032024	Missense_Mutation	SNP	C	C3N-00217_TP	34257	49032024	84243285	396	12834											
AQP6	0	.	GRCh38	chr12	49973512	49973512	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctggtgggggccacggtGggggctgctctgctttatgg	3	10	19	9	1	1	0	0	0	1	0	1	0	1	0	1	7	3	4	1	7	1	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.339G>A	p.=	p.V113V	ENST00000615425	1/5	164	136	28	138	138	0	strelka-varscan-mutect	AQP6,synonymous_variant,p.=,ENST00000615425,NM_001652.3;AQP6,synonymous_variant,p.=,ENST00000315520,;AQP6,synonymous_variant,p.=,ENST00000618286,;AQP6,intron_variant,,ENST00000551733,;RACGAP1,downstream_gene_variant,,ENST00000548961,;AQP6,non_coding_transcript_exon_variant,,ENST00000489786,;	A	ENST00000615425	Transcript	synonymous_variant	339/2245	339/849	113/282	V	gtG/gtA		1		1	AQP6	HGNC	HGNC:639	protein_coding	YES	CCDS31798.1	ENSP00000477688	Q13520		UPI000013EBD8	NM_001652.3			1/5		Gene3D:1.20.1080.10,Pfam_domain:PF00230,Prints_domain:PR00783,hmmpanther:PTHR19139,hmmpanther:PTHR19139:SF113,Superfamily_domains:SSF81338,TIGRFAM_domain:TIGR00861,Transmembrane_helices:TMhelix																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	43	49973512	49973512	G	A	1	0	0	0	0	0	0	0	1	953	1335	47	3		3	AQP6	12	49973512	Silent	SNP	G	C3N-00217_TP	941488	49973512	83301797	397	12835											
TFCP2	0	.	GRCh38	chr12	51104179	51104179	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactggagggggtggctcTggctggtggtttggtgaacc	4	11	20	6	0	1	2	0	2	1	0	1	3	1	3	1	8	1	3	1	8	1	1	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.942A>G	p.=	p.P314P	ENST00000257915	9/15	133	87	46	153	152	1	strelka-varscan-mutect	TFCP2,synonymous_variant,p.=,ENST00000257915,NM_001173452.1,NM_005653.4;TFCP2,synonymous_variant,p.=,ENST00000548115,NM_001173453.1;TFCP2,synonymous_variant,p.=,ENST00000548108,;TFCP2,intron_variant,,ENST00000549867,;TFCP2,upstream_gene_variant,,ENST00000546822,;RP11-416A17.1,upstream_gene_variant,,ENST00000469738,;	C	ENST00000257915	Transcript	synonymous_variant	1401/3546	942/1509	314/502	P	ccA/ccG		1		-1	TFCP2	HGNC	HGNC:11748	protein_coding	YES	CCDS8808.1	ENSP00000257915	Q12800	A0A024R120	UPI0000071CCA	NM_001173452.1,NM_005653.4			9/15		hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF11,Superfamily_domains:SSF47769																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	43	51104179	51104179	T	C	1	0	0	0	0	0	0	0	1	16228	1567	55	5		5	TFCP2	12	51104179	Silent	SNP	T	C3N-00217_TP	1130667	51104179	82171130	398	12836											
GALNT6	0	.	GRCh38	chr12	51379495	51379495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagggcttcagttcagctGgggtatagaacccagggagg	11	7	16	7	0	2	2	2	0	0	2	2	3	2	3	1	5	2	4	1	5	4	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.287C>A	p.Pro96Gln	p.P96Q	ENST00000543196	2/11	200	178	22	184	184	0	strelka-varscan-mutect	GALNT6,missense_variant,p.Pro96Gln,ENST00000543196,;GALNT6,missense_variant,p.Pro96Gln,ENST00000356317,NM_007210.3;GALNT6,missense_variant,p.Pro96Gln,ENST00000604381,;GALNT6,missense_variant,p.Pro96Gln,ENST00000604847,;GALNT6,downstream_gene_variant,,ENST00000603563,;GALNT6,downstream_gene_variant,,ENST00000605138,;GALNT6,downstream_gene_variant,,ENST00000605617,;GALNT6,downstream_gene_variant,,ENST00000603188,;GALNT6,downstream_gene_variant,,ENST00000604506,;GALNT6,downstream_gene_variant,,ENST00000605055,;GALNT6,downstream_gene_variant,,ENST00000604426,;GALNT6,downstream_gene_variant,,ENST00000603203,;GALNT6,downstream_gene_variant,,ENST00000605089,;GALNT6,downstream_gene_variant,,ENST00000605822,;GALNT6,downstream_gene_variant,,ENST00000605367,;GALNT6,downstream_gene_variant,,ENST00000605720,;GALNT6,downstream_gene_variant,,ENST00000603482,;GALNT6,missense_variant,p.Pro96Gln,ENST00000603641,;	T	ENST00000543196	Transcript	missense_variant	493/5207	287/1869	96/622	P/Q	cCa/cAa		1		-1	GALNT6	HGNC	HGNC:4128	protein_coding	YES	CCDS8813.1	ENSP00000444171	Q8NCL4		UPI000013D726		tolerated(0.38)		2/11		hmmpanther:PTHR11675:SF58,hmmpanther:PTHR11675																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	51379495	51379495	G	T	1	0	0	0	0	1	0	0	0	6088	1348	47	2		2	GALNT6	12	51379495	Missense_Mutation	SNP	G	C3N-00217_TP	275316	51379495	81895814	399	12837											
KRT6B	0	.	GRCh38	chr12	52447830	52447830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcgatctccacatccaGggccagcttgacgttcatca	8	9	11	13	2	3	1	2	1	1	0	5	2	4	1	3	3	1	2	3	3	0	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1372C>A	p.Leu458Met	p.L458M	ENST00000252252	7/9	570	392	178	514	513	1	strelka-varscan-mutect	KRT6B,missense_variant,p.Leu458Met,ENST00000252252,NM_005555.3;	T	ENST00000252252	Transcript	missense_variant	1420/2282	1372/1695	458/564	L/M	Ctg/Atg		1		-1	KRT6B	HGNC	HGNC:6444	protein_coding	YES	CCDS8828.1	ENSP00000252252	P04259		UPI000013CD50	NM_005555.3	deleterious(0)		7/9		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Gene3D:1.20.5.170,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF64593																	MODERATE	1	SNV	1			1										PASS		rs1206313527	.												T	3	4	43	52447830	52447830	G	T	1	0	0	0	0	1	0	0	0	8363	991	35	2		2	KRT6B	12	52447830	Missense_Mutation	SNP	G	C3N-00217_TP	1068335	52447830	80827479	400	12838											
ESPL1	0	.	GRCh38	chr12	53288307	53288307	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaaaatgagctttgagatCctcaggggctctgacgggga	12	8	14	7	1	2	4	1	3	1	2	3	6	3	5	1	4	1	2	1	4	2	1			C3N-00217_TP	C3N-00217_NB	C	C																c.4512C>A	p.=	p.I1504I	ENST00000257934	19/31	107	73	34	88	88	0	strelka-varscan-mutect	ESPL1,synonymous_variant,p.=,ENST00000257934,NM_012291.4;ESPL1,synonymous_variant,p.=,ENST00000552462,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,non_coding_transcript_exon_variant,,ENST00000549154,;ESPL1,non_coding_transcript_exon_variant,,ENST00000553016,;ESPL1,non_coding_transcript_exon_variant,,ENST00000535123,;ESPL1,non_coding_transcript_exon_variant,,ENST00000552600,;	A	ENST00000257934	Transcript	synonymous_variant	4603/6623	4512/6363	1504/2120	I	atC/atA	COSM4495326	1		1	ESPL1	HGNC	HGNC:16856	protein_coding	YES	CCDS8852.1	ENSP00000257934	Q14674		UPI00003668C3	NM_012291.4			19/31		hmmpanther:PTHR12792											1						LOW	1	SNV	5		1	1										PASS		.	.												A	2	1	43	53288307	53288307	C	A	1	0	0	0	0	0	0	0	1	5115	845	30	2		2	ESPL1	12	53288307	Silent	SNP	C	C3N-00217_TP	840477	53288307	79987002	401	12839											
LRP1	0	.	GRCh38	chr12	57194646	57194646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgcatccccatgagctGgacgtgtgacaaagaggatg	10	7	14	10	2	0	3	0	2	0	1	1	5	1	5	2	2	2	3	2	2	1	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.8138G>T	p.Trp2713Leu	p.W2713L	ENST00000243077	50/89	95	65	30	69	69	0	strelka-varscan-mutect	LRP1,missense_variant,p.Trp2713Leu,ENST00000243077,NM_002332.2;LRP1,downstream_gene_variant,,ENST00000554118,;MIR1228,downstream_gene_variant,,ENST00000408438,;	T	ENST00000243077	Transcript	missense_variant	8604/14897	8138/13635	2713/4544	W/L	tGg/tTg		1		1	LRP1	HGNC	HGNC:6692	protein_coding	YES	CCDS8932.1	ENSP00000243077	Q07954		UPI00001B044F	NM_002332.2	deleterious(0)		50/89		Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_patterns:PS01209,PROSITE_profiles:PS50068,SMART_domains:SM00192,Superfamily_domains:SSF57424																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	57194646	57194646	G	T	1	0	0	0	0	1	0	0	0	8846	1357	47	2		2	LRP1	12	57194646	Missense_Mutation	SNP	G	C3N-00217_TP	3906339	57194646	76080663	402	12840											
NAV3	0	.	GRCh38	chr12	78200531	78200531	+	Missense_Mutation	SNP	G	G	T																															ggttctagagtatggttcatGgatctctggaactattcttt																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.6774G>T	p.Met2258Ile	p.M2258I	ENST00000397909	38/40	70	57	13	109	109	0	strelka-varscan-mutect	NAV3,missense_variant,p.Met2258Ile,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Met2236Ile,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Met1131Ile,ENST00000552895,;NAV3,missense_variant,p.Met126Ile,ENST00000551162,;NAV3,downstream_gene_variant,,ENST00000550788,;NAV3,non_coding_transcript_exon_variant,,ENST00000547884,;	T	ENST00000397909	Transcript	missense_variant	6947/9821	6774/7158	2258/2385	M/I	atG/atT		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	tolerated(0.59)		38/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	78200531	78200531	G	T	1	0	0	0	0	1	0	0	0	10194	1348	47	2		2	NAV3	12	78200531	Missense_Mutation	SNP	G	C3N-00217_TP	21005885	78200531	55074778	403	12841	294	2									
NAV3	0	.	GRCh38	chr12	78200532	78200532	+	Missense_Mutation	SNP	G	G	T																															gttctagagtatggttcatgGatctctggaactattcttta																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.6775G>T	p.Asp2259Tyr	p.D2259Y	ENST00000397909	38/40	71	58	13	109	109	0	strelka-varscan-mutect	NAV3,missense_variant,p.Asp2259Tyr,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Asp2237Tyr,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Asp1132Tyr,ENST00000552895,;NAV3,missense_variant,p.Asp127Tyr,ENST00000551162,;NAV3,downstream_gene_variant,,ENST00000550788,;NAV3,non_coding_transcript_exon_variant,,ENST00000547884,;	T	ENST00000397909	Transcript	missense_variant	6948/9821	6775/7158	2259/2385	D/Y	Gat/Tat		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	deleterious(0)		38/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	78200532	78200532	G	T	1	0	0	0	0	1	0	0	0	10194	1174	41	2		2	NAV3	12	78200532	Missense_Mutation	SNP	G	C3N-00217_TP	1	78200532	55074777	404	12842	294	2									
SLC6A15	0	.	GRCh38	chr12	84870659	84870659	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcaataaaagctaagccggtCccctgaacagcctgcaaaat	15	6	8	12	1	0	1	0	1	0	0	1	1	1	1	4	1	5	3	4	1	7	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1314G>C	p.=	p.G438G	ENST00000266682	9/12	89	61	28	65	65	0	strelka-varscan-mutect	SLC6A15,synonymous_variant,p.=,ENST00000266682,NM_182767.5;SLC6A15,synonymous_variant,p.=,ENST00000309283,;SLC6A15,synonymous_variant,p.=,ENST00000552192,NM_001146335.2;SLC6A15,downstream_gene_variant,,ENST00000551612,;SLC6A15,non_coding_transcript_exon_variant,,ENST00000551818,;SLC6A15,downstream_gene_variant,,ENST00000551388,;SLC6A15,upstream_gene_variant,,ENST00000548267,;	G	ENST00000266682	Transcript	synonymous_variant	1856/4879	1314/2193	438/730	G	ggG/ggC		1		-1	SLC6A15	HGNC	HGNC:13621	protein_coding	YES	CCDS9026.1	ENSP00000266682	Q9H2J7		UPI0000038BF2	NM_182767.5			9/12		Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	43	84870659	84870659	C	G	1	0	0	0	0	0	0	0	1	14961	842	30	4		4	SLC6A15	12	84870659	Silent	SNP	C	C3N-00217_TP	6670127	84870659	48404650	405	12843											
ATP2B1	0	.	GRCh38	chr12	89591259	89591259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccggtttttctaacccttCatataaagaactacgaaatg	13	14	5	9	2	2	1	1	0	1	1	3	2	3	1	2	1	3	1	2	1	7	8	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.3388G>A	p.Glu1130Lys	p.E1130K	ENST00000428670	21/21	114	75	39	135	135	0	strelka-varscan-mutect	ATP2B1,missense_variant,p.Glu1130Lys,ENST00000428670,;ATP2B1,missense_variant,p.Glu1130Lys,ENST00000261173,NM_001682.2;ATP2B1,missense_variant,p.Glu873Lys,ENST00000393164,;ATP2B1,missense_variant,p.Glu210Lys,ENST00000635033,;ATP2B1,missense_variant,p.Glu111Lys,ENST00000550716,;ATP2B1,3_prime_UTR_variant,,ENST00000359142,NM_001001323.1;RP11-981P6.1,intron_variant,,ENST00000552778,;	T	ENST00000428670	Transcript	missense_variant	3845/7032	3388/3663	1130/1220	E/K	Gaa/Aaa		1		-1	ATP2B1	HGNC	HGNC:814	protein_coding	YES	CCDS9035.1	ENSP00000392043	P20020	A0A024RBC7	UPI000002A436		deleterious(0.04)		21/21		Pfam_domain:PF12424																	MODERATE		SNV	5			1										PASS		rs922455554	.												T	3	4	43	89591259	89591259	C	T	1	0	0	0	0	1	0	0	0	1292	835	29	3		3	ATP2B1	12	89591259	Missense_Mutation	SNP	C	C3N-00217_TP	4720600	89591259	43684050	406	12844											
VEZT	0	.	GRCh38	chr12	95257213	95257213	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttttctcagtgcaatAagaaagatgacttacttcac	12	17	5	7	0	2	3	2	1	1	2	3	3	2	3	0	0	2	1	0	0	4	7	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.232A>T	p.Lys78Ter	p.K78*	ENST00000436874	3/12	101	69	32	130	130	0	strelka-varscan-mutect	VEZT,stop_gained,p.Lys78Ter,ENST00000436874,NM_017599.3;VEZT,stop_gained,p.Lys30Ter,ENST00000397792,;VEZT,stop_gained,p.Lys97Ter,ENST00000551472,;VEZT,stop_gained,p.Lys30Ter,ENST00000551311,;VEZT,stop_gained,p.Lys69Ter,ENST00000552821,;VEZT,intron_variant,,ENST00000549002,;VEZT,intron_variant,,ENST00000546445,;VEZT,non_coding_transcript_exon_variant,,ENST00000356859,;VEZT,non_coding_transcript_exon_variant,,ENST00000550106,;VEZT,non_coding_transcript_exon_variant,,ENST00000546398,;VEZT,non_coding_transcript_exon_variant,,ENST00000552626,;VEZT,non_coding_transcript_exon_variant,,ENST00000546409,;VEZT,non_coding_transcript_exon_variant,,ENST00000551746,;VEZT,non_coding_transcript_exon_variant,,ENST00000553063,;VEZT,non_coding_transcript_exon_variant,,ENST00000546365,;VEZT,non_coding_transcript_exon_variant,,ENST00000547894,;VEZT,non_coding_transcript_exon_variant,,ENST00000552031,;VEZT,intron_variant,,ENST00000551695,;VEZT,intron_variant,,ENST00000551356,;VEZT,intron_variant,,ENST00000551902,;VEZT,downstream_gene_variant,,ENST00000549589,;VEZT,stop_gained,p.Lys78Ter,ENST00000548245,;VEZT,3_prime_UTR_variant,,ENST00000547997,;VEZT,3_prime_UTR_variant,,ENST00000552660,;VEZT,3_prime_UTR_variant,,ENST00000551994,;VEZT,3_prime_UTR_variant,,ENST00000548455,;VEZT,3_prime_UTR_variant,,ENST00000550803,;VEZT,3_prime_UTR_variant,,ENST00000548822,;VEZT,3_prime_UTR_variant,,ENST00000551039,;VEZT,3_prime_UTR_variant,,ENST00000549624,;VEZT,3_prime_UTR_variant,,ENST00000547484,;VEZT,non_coding_transcript_exon_variant,,ENST00000549192,;VEZT,intron_variant,,ENST00000548838,;VEZT,intron_variant,,ENST00000547611,;VEZT,intron_variant,,ENST00000546557,;VEZT,intron_variant,,ENST00000548371,;VEZT,downstream_gene_variant,,ENST00000551792,;	T	ENST00000436874	Transcript	stop_gained	337/4562	232/2340	78/779	K/*	Aag/Tag		1		1	VEZT	HGNC	HGNC:18258	protein_coding	YES	CCDS44954.1	ENSP00000410083	Q9HBM0		UPI00001FB2EC	NM_017599.3			3/12		hmmpanther:PTHR15989:SF5,hmmpanther:PTHR15989																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	43	95257213	95257213	A	T	1	0	0	0	0	0	1	0	0	17702	363	13	4		4	VEZT	12	95257213	Nonsense_Mutation	SNP	A	C3N-00217_TP	5665954	95257213	38018096	407	12845											
GAS2L3	0	.	GRCh38	chr12	100624646	100624646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcctggccgtaccccactgtCcatcgtgagcctaccccagt	6	9	8	18	2	0	1	0	1	0	0	3	1	2	1	8	1	3	1	8	1	2	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1841C>T	p.Ser614Phe	p.S614F	ENST00000547754	10/10	271	228	43	259	259	0	strelka-varscan-mutect	GAS2L3,missense_variant,p.Ser510Phe,ENST00000537247,NM_001303131.1;GAS2L3,missense_variant,p.Ser614Phe,ENST00000547754,NM_174942.2;GAS2L3,missense_variant,p.Ser614Phe,ENST00000539410,;GAS2L3,missense_variant,p.Ser614Phe,ENST00000266754,NM_001303130.1;GAS2L3,missense_variant,p.Ser311Phe,ENST00000552854,;	T	ENST00000547754	Transcript	missense_variant	2067/2340	1841/2085	614/694	S/F	tCc/tTc		1		1	GAS2L3	HGNC	HGNC:27475	protein_coding	YES	CCDS9079.1	ENSP00000448955	Q86XJ1	A0A024RBF4	UPI000000DA3B	NM_174942.2	deleterious(0)		10/10		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF256																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	100624646	100624646	C	T	1	0	0	0	0	1	0	0	0	6118	855	30	3		3	GAS2L3	12	100624646	Missense_Mutation	SNP	C	C3N-00217_TP	5367433	100624646	32650663	408	12846											
DAO	0	.	GRCh38	chr12	108897087	108897087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attccccgtacatcatcccaGggtaaaattggactgttctc	10	12	7	12	1	2	0	1	0	1	0	5	1	4	1	3	2	1	3	3	2	3	5	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.694G>T	p.Gly232Trp	p.G232W	ENST00000228476	8/11	384	292	92	335	333	2	strelka-varscan-mutect	DAO,missense_variant,p.Gly232Trp,ENST00000228476,NM_001917.4;DAO,missense_variant,p.Gly166Trp,ENST00000551281,;DAO,missense_variant,p.Gly109Trp,ENST00000547768,;DAO,downstream_gene_variant,,ENST00000547166,;DAO,splice_region_variant,,ENST00000549215,;DAO,splice_region_variant,,ENST00000547122,;DAO,upstream_gene_variant,,ENST00000546552,;	T	ENST00000228476	Transcript	missense_variant,splice_region_variant	898/1756	694/1044	232/347	G/W	Ggg/Tgg		1		1	DAO	HGNC	HGNC:2671	protein_coding	YES	CCDS9122.1	ENSP00000228476	P14920	A0A024RBI1	UPI0000130F5F	NM_001917.4	deleterious(0)		8/11		Gene3D:3.30.9.10,Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,hmmpanther:PTHR11530,hmmpanther:PTHR11530:SF11,Superfamily_domains:SSF54373																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	108897087	108897087	G	T	1	0	0	0	0	1	0	0	0	4032	1014	35	2		2	DAO	12	108897087	Missense_Mutation	SNP	G	C3N-00217_TP	8272441	108897087	24378222	409	12847											
MVK	0	.	GRCh38	chr12	109579890	109579890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgactgtgctgtcaccgaGcgcctggctgtgctggcctt	4	10	14	13	3	1	0	1	0	0	0	1	3	1	0	3	2	3	3	3	2	0	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.315G>T	p.Glu105Asp	p.E105D	ENST00000539575	3/10	567	400	167	488	487	1	strelka-varscan-mutect	MVK,missense_variant,p.Glu105Asp,ENST00000539575,;MVK,missense_variant,p.Glu105Asp,ENST00000625889,;MVK,missense_variant,p.Glu105Asp,ENST00000228510,NM_000431.3,NM_001114185.2;MVK,missense_variant,p.Glu105Asp,ENST00000392727,NM_001301182.1;MVK,missense_variant,p.Glu105Asp,ENST00000546277,;MVK,missense_variant,p.Glu105Asp,ENST00000539335,;MVK,intron_variant,,ENST00000636996,;MVK,intron_variant,,ENST00000629016,;MVK,intron_variant,,ENST00000539696,;MVK,intron_variant,,ENST00000535044,;MVK,3_prime_UTR_variant,,ENST00000537237,;MVK,intron_variant,,ENST00000447878,;MVK,intron_variant,,ENST00000636529,;MVK,intron_variant,,ENST00000545774,;MVK,upstream_gene_variant,,ENST00000545516,;	T	ENST00000539575	Transcript	missense_variant	331/2747	315/1191	105/396	E/D	gaG/gaT		1		1	MVK	HGNC	HGNC:7530	protein_coding	YES	CCDS9132.1	ENSP00000443551	Q03426	B2RDU6	UPI000012DE5B		tolerated(0.09)		3/10		hmmpanther:PTHR10457,hmmpanther:PTHR10457:SF4,Gene3D:3.30.230.10,TIGRFAM_domain:TIGR00549,Superfamily_domains:SSF54211																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	109579890	109579890	G	T	1	0	0	0	0	1	0	0	0	9994	962	34	2		2	MVK	12	109579890	Missense_Mutation	SNP	G	C3N-00217_TP	682803	109579890	23695419	410	12848											
MVK	0	.	GRCh38	chr12	109581485	109581485	+	Silent	SNP	A	A	C																															gcctactcggtgtgtctggcAgcagccctcctgactgtgtg																								novel		C3N-00217_TP	C3N-00217_NB	A	A																c.462A>C	p.=	p.A154A	ENST00000539575	4/10	548	422	126	441	439	2	strelka-varscan-mutect	MVK,synonymous_variant,p.=,ENST00000539575,;MVK,synonymous_variant,p.=,ENST00000228510,NM_000431.3,NM_001114185.2;MVK,synonymous_variant,p.=,ENST00000636996,;MVK,synonymous_variant,p.=,ENST00000546277,;MVK,synonymous_variant,p.=,ENST00000539335,;MVK,intron_variant,,ENST00000625889,;MVK,intron_variant,,ENST00000392727,NM_001301182.1;MVK,intron_variant,,ENST00000629016,;MVK,intron_variant,,ENST00000539696,;MVK,intron_variant,,ENST00000535044,;MVK,3_prime_UTR_variant,,ENST00000537237,;MVK,non_coding_transcript_exon_variant,,ENST00000545516,;MVK,intron_variant,,ENST00000447878,;MVK,intron_variant,,ENST00000636529,;MVK,intron_variant,,ENST00000545774,;	C	ENST00000539575	Transcript	synonymous_variant	478/2747	462/1191	154/396	A	gcA/gcC		1		1	MVK	HGNC	HGNC:7530	protein_coding	YES	CCDS9132.1	ENSP00000443551	Q03426	B2RDU6	UPI000012DE5B				4/10		hmmpanther:PTHR10457,hmmpanther:PTHR10457:SF4,Pfam_domain:PF00288,Gene3D:3.30.230.10,TIGRFAM_domain:TIGR00549,Superfamily_domains:SSF54211,Prints_domain:PR00959																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	43	109581485	109581485	A	C	1	0	0	0	0	0	0	0	1	9994	175	7	5		5	MVK	12	109581485	Silent	SNP	A	C3N-00217_TP	1595	109581485	23693824	411	12849	295	2									
MVK	0	.	GRCh38	chr12	109581486	109581486	+	Missense_Mutation	SNP	G	G	T																															cctactcggtgtgtctggcaGcagccctcctgactgtgtgc																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.463G>T	p.Ala155Ser	p.A155S	ENST00000539575	4/10	547	420	127	446	445	1	strelka-varscan-mutect	MVK,missense_variant,p.Ala155Ser,ENST00000539575,;MVK,missense_variant,p.Ala155Ser,ENST00000228510,NM_000431.3,NM_001114185.2;MVK,missense_variant,p.Ala105Ser,ENST00000636996,;MVK,missense_variant,p.Ala155Ser,ENST00000546277,;MVK,missense_variant,p.Ala155Ser,ENST00000539335,;MVK,intron_variant,,ENST00000625889,;MVK,intron_variant,,ENST00000392727,NM_001301182.1;MVK,intron_variant,,ENST00000629016,;MVK,intron_variant,,ENST00000539696,;MVK,intron_variant,,ENST00000535044,;MVK,3_prime_UTR_variant,,ENST00000537237,;MVK,non_coding_transcript_exon_variant,,ENST00000545516,;MVK,intron_variant,,ENST00000447878,;MVK,intron_variant,,ENST00000636529,;MVK,intron_variant,,ENST00000545774,;	T	ENST00000539575	Transcript	missense_variant	479/2747	463/1191	155/396	A/S	Gca/Tca		1		1	MVK	HGNC	HGNC:7530	protein_coding	YES	CCDS9132.1	ENSP00000443551	Q03426	B2RDU6	UPI000012DE5B		tolerated(0.05)		4/10		hmmpanther:PTHR10457,hmmpanther:PTHR10457:SF4,Pfam_domain:PF00288,Gene3D:3.30.230.10,TIGRFAM_domain:TIGR00549,Superfamily_domains:SSF54211,Prints_domain:PR00959																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	109581486	109581486	G	T	1	0	0	0	0	1	0	0	0	9994	971	34	2		2	MVK	12	109581486	Missense_Mutation	SNP	G	C3N-00217_TP	1	109581486	23693823	412	12850	295	2									
RPH3A	0	.	GRCh38	chr12	112868562	112868562	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctgaacagcctgctcctGagcccaagcaccctgcccgg	7	5	9	20	1	0	2	0	2	0	0	1	2	1	2	7	1	6	2	7	1	2	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.577G>C	p.Glu193Gln	p.E193Q	ENST00000389385	8/22	148	95	53	111	111	0	strelka-varscan-mutect	RPH3A,missense_variant,p.Glu193Gln,ENST00000389385,NM_001143854.1;RPH3A,missense_variant,p.Glu193Gln,ENST00000415485,;RPH3A,missense_variant,p.Glu189Gln,ENST00000551052,NM_014954.3;RPH3A,missense_variant,p.Glu193Gln,ENST00000543106,;RPH3A,missense_variant,p.Glu144Gln,ENST00000548866,;RPH3A,downstream_gene_variant,,ENST00000551593,;RPH3A,downstream_gene_variant,,ENST00000547728,;RPH3A,downstream_gene_variant,,ENST00000550901,;RPH3A,downstream_gene_variant,,ENST00000551198,;RPH3A,downstream_gene_variant,,ENST00000552667,;RPH3A,downstream_gene_variant,,ENST00000548197,;RPH3A,downstream_gene_variant,,ENST00000553114,;RPH3A,downstream_gene_variant,,ENST00000546703,;RPH3A,downstream_gene_variant,,ENST00000547840,;RPH3A,downstream_gene_variant,,ENST00000551748,;RPH3A,downstream_gene_variant,,ENST00000549769,;RPH3A,downstream_gene_variant,,ENST00000547686,;RPH3A,non_coding_transcript_exon_variant,,ENST00000549913,;RPH3A,non_coding_transcript_exon_variant,,ENST00000547222,;RPH3A,downstream_gene_variant,,ENST00000552679,;RPH3A,downstream_gene_variant,,ENST00000547099,;	C	ENST00000389385	Transcript	missense_variant	1074/4679	577/2085	193/694	E/Q	Gag/Cag		1		1	RPH3A	HGNC	HGNC:17056	protein_coding	YES	CCDS44979.1	ENSP00000374036	Q9Y2J0		UPI000013456D	NM_001143854.1	tolerated(0.14)		8/22		Low_complexity_(Seg):seg,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF118																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	112868562	112868562	G	C	1	0	0	0	0	1	0	0	0	13803	1291	45	4		4	RPH3A	12	112868562	Missense_Mutation	SNP	G	C3N-00217_TP	3287076	112868562	20406747	413	12851											
RPH3A	0	.	GRCh38	chr12	112883356	112883356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctggaatgagaccctcGtgtatcacggcatcaccgat	10	9	9	13	3	3	1	2	1	1	1	4	4	3	2	3	2	0	2	3	2	2	1	rs35555961		C3N-00217_TP	C3N-00217_NB	G	G																c.1390G>T	p.Val464Leu	p.V464L	ENST00000389385	16/22	304	226	78	273	271	2	strelka-varscan-mutect	RPH3A,missense_variant,p.Val464Leu,ENST00000389385,NM_001143854.1;RPH3A,missense_variant,p.Val464Leu,ENST00000415485,;RPH3A,missense_variant,p.Val460Leu,ENST00000551052,NM_014954.3;RPH3A,missense_variant,p.Val464Leu,ENST00000543106,;RPH3A,missense_variant,p.Val415Leu,ENST00000548866,;RPH3A,non_coding_transcript_exon_variant,,ENST00000549913,;RPH3A,downstream_gene_variant,,ENST00000552755,;RPH3A,upstream_gene_variant,,ENST00000546687,;	T	ENST00000389385	Transcript	missense_variant	1887/4679	1390/2085	464/694	V/L	Gtg/Ttg	rs35555961,COSM4978270	1		1	RPH3A	HGNC	HGNC:17056	protein_coding	YES	CCDS44979.1	ENSP00000374036	Q9Y2J0		UPI000013456D	NM_001143854.1	deleterious(0.02)		16/22		PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF118,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs35555961	.												T	3	4	43	112883356	112883356	G	T	1	0	0	0	0	1	0	0	0	13803	1145	40	1		1	RPH3A	12	112883356	Missense_Mutation	SNP	G	C3N-00217_TP	14794	112883356	20391953	414	12852											
RBM19	0	.	GRCh38	chr12	113957837	113957837	+	Missense_Mutation	SNP	C	C	A																															ctggcatcccttgctcttggCctgcacccttgctgtctctt																								novel		C3N-00217_TP	C3N-00217_NB	C	C																c.785G>T	p.Gly262Val	p.G262V	ENST00000545145	6/25	86	58	28	84	84	0	strelka-varscan-mutect	RBM19,missense_variant,p.Gly262Val,ENST00000545145,NM_001146699.1;RBM19,missense_variant,p.Gly262Val,ENST00000261741,NM_016196.3;RBM19,missense_variant,p.Gly262Val,ENST00000392561,NM_001146698.1;RBM19,downstream_gene_variant,,ENST00000546876,;	A	ENST00000545145	Transcript	missense_variant	864/4422	785/2883	262/960	G/V	gGc/gTc		1		-1	RBM19	HGNC	HGNC:29098	protein_coding	YES	CCDS9172.1	ENSP00000442053	Q9Y4C8		UPI000013D1EC	NM_001146699.1	tolerated(0.14)		6/25																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	43	113957837	113957837	C	A	1	0	0	0	0	1	0	0	0	13286	739	26	2		2	RBM19	12	113957837	Missense_Mutation	SNP	C	C3N-00217_TP	1074481	113957837	19317472	415	12853	296	2									
RBM19	0	.	GRCh38	chr12	113957838	113957838	+	Missense_Mutation	SNP	C	C	A																															tggcatcccttgctcttggcCtgcacccttgctgtctcttt																								novel		C3N-00217_TP	C3N-00217_NB	C	C																c.784G>T	p.Gly262Cys	p.G262C	ENST00000545145	6/25	88	59	29	86	86	0	strelka-varscan-mutect	RBM19,missense_variant,p.Gly262Cys,ENST00000545145,NM_001146699.1;RBM19,missense_variant,p.Gly262Cys,ENST00000261741,NM_016196.3;RBM19,missense_variant,p.Gly262Cys,ENST00000392561,NM_001146698.1;RBM19,downstream_gene_variant,,ENST00000546876,;	A	ENST00000545145	Transcript	missense_variant	863/4422	784/2883	262/960	G/C	Ggc/Tgc		1		-1	RBM19	HGNC	HGNC:29098	protein_coding	YES	CCDS9172.1	ENSP00000442053	Q9Y4C8		UPI000013D1EC	NM_001146699.1	deleterious(0.04)		6/25																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	43	113957838	113957838	C	A	1	0	0	0	0	1	0	0	0	13286	681	24	2		2	RBM19	12	113957838	Missense_Mutation	SNP	C	C3N-00217_TP	1	113957838	19317471	416	12854	296	2									
GJA3	0	.	GRCh38	chr13	20142941	20142941	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggggctggggctctctctCttcagctgctcctcctcctc	1	14	10	16	0	3	0	1	0	2	0	9	0	6	0	3	4	2	4	3	4	0	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.348G>A	p.=	p.K116K	ENST00000241125	2/2	301	203	98	210	210	0	strelka-varscan-mutect	GJA3,synonymous_variant,p.=,ENST00000241125,NM_021954.3;	T	ENST00000241125	Transcript	synonymous_variant	525/5211	348/1308	116/435	K	aaG/aaA		1		-1	GJA3	HGNC	HGNC:4277	protein_coding	YES	CCDS9289.1	ENSP00000241125	Q9Y6H8		UPI0000052BDE	NM_021954.3			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR11984:SF12,hmmpanther:PTHR11984,Gene3D:2zw3A00,Pfam_domain:PF00029																	LOW	1	SNV	3			1										PASS		.	.												T	2	4	43	20142941	20142941	C	T	1	0	0	0	0	0	0	0	1	6282	912	32	3		3	GJA3	13	20142941	Silent	SNP	C	C3N-00217_TP		20142941	94221387	417	12855											
SACS	0	.	GRCh38	chr13	23371117	23371117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattgaaggtttacaaaaaGatgacaatttttggaagtca	16	13	9	3	0	1	4	1	3	0	1	1	5	1	5	0	2	1	1	0	2	6	5	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.220C>T	p.Leu74Phe	p.L74F	ENST00000382292	3/9	65	61	4	71	71	0	varscan-mutect	SACS,missense_variant,p.Leu74Phe,ENST00000382292,NM_014363.5;SACS,intron_variant,,ENST00000402364,NM_001278055.1;SACS,upstream_gene_variant,,ENST00000455470,;RPLP1P13,upstream_gene_variant,,ENST00000434567,;	A	ENST00000382292	Transcript	missense_variant	494/15324	220/13740	74/4579	L/F	Ctt/Ttt		1		-1	SACS	HGNC	HGNC:10519	protein_coding	YES	CCDS9300.2	ENSP00000371729	Q9NZJ4		UPI000047039D	NM_014363.5	deleterious_low_confidence(0.01)		3/9																			MODERATE	1	SNV	5			1										PASS		rs1176497702	.												A	3	1	43	23371117	23371117	G	A	1	0	0	0	0	1	0	0	0	14063	942	33	3		3	SACS	13	23371117	Missense_Mutation	SNP	G	C3N-00217_TP	3228176	23371117	90993211	418	12856											
ATP8A2	0	.	GRCh38	chr13	25540334	25540334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagtgaacctcaggcaatGtgttatgttgaaacagctaa	13	12	9	7	0	1	2	1	2	0	0	1	2	1	2	1	1	3	4	1	1	6	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.597G>A	p.Met199Ile	p.M199I	ENST00000381655	8/37	151	107	44	197	197	0	strelka-varscan-mutect	ATP8A2,missense_variant,p.Met199Ile,ENST00000381655,NM_016529.4;ATP8A2,missense_variant,p.Met159Ile,ENST00000255283,;ATP8A2,missense_variant,p.Met39Ile,ENST00000281620,;	A	ENST00000381655	Transcript	missense_variant	739/9575	597/3567	199/1188	M/I	atG/atA		1		1	ATP8A2	HGNC	HGNC:13533	protein_coding	YES	CCDS41873.1	ENSP00000371070	Q9NTI2		UPI0000229592	NM_016529.4	tolerated(0.08)		8/37		hmmpanther:PTHR24092:SF66,hmmpanther:PTHR24092,Gene3D:2.70.150.10,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049471																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	43	25540334	25540334	G	A	1	0	0	0	0	1	0	0	0	1346	1377	48	3		3	ATP8A2	13	25540334	Missense_Mutation	SNP	G	C3N-00217_TP	2169217	25540334	88823994	419	12857											
FREM2	0	.	GRCh38	chr13	38864442	38864442	+	Nonsense_Mutation	SNP	G	G	T																															ccaaaaatccagaaataattGgagagacatatccttaccag																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.7819G>T	p.Gly2607Ter	p.G2607*	ENST00000280481	16/24	365	292	73	375	375	0	strelka-varscan-mutect	FREM2,stop_gained,p.Gly2607Ter,ENST00000280481,NM_207361.5;	T	ENST00000280481	Transcript	stop_gained	8035/16070	7819/9510	2607/3169	G/*	Gga/Tga		1		1	FREM2	HGNC	HGNC:25396	protein_coding	YES	CCDS31960.1	ENSP00000280481	Q5SZK8		UPI000443805C	NM_207361.5			16/24		hmmpanther:PTHR11878:SF32,hmmpanther:PTHR11878																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	43	38864442	38864442	G	T	1	0	0	0	0	0	1	0	0	5912	1349	47	2		2	FREM2	13	38864442	Nonsense_Mutation	SNP	G	C3N-00217_TP	13324108	38864442	75499886	420	12858	297	2									
FREM2	0	.	GRCh38	chr13	38864443	38864443	+	Missense_Mutation	SNP	G	G	T																															caaaaatccagaaataattgGagagacatatccttaccagt																										C3N-00217_TP	C3N-00217_NB	G	G																c.7820G>T	p.Gly2607Val	p.G2607V	ENST00000280481	16/24	368	294	74	375	375	0	strelka-varscan-mutect	FREM2,missense_variant,p.Gly2607Val,ENST00000280481,NM_207361.5;	T	ENST00000280481	Transcript	missense_variant	8036/16070	7820/9510	2607/3169	G/V	gGa/gTa	COSM1252775	1		1	FREM2	HGNC	HGNC:25396	protein_coding	YES	CCDS31960.1	ENSP00000280481	Q5SZK8		UPI000443805C	NM_207361.5	deleterious(0)		16/24		hmmpanther:PTHR11878:SF32,hmmpanther:PTHR11878											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	43	38864443	38864443	G	T	1	0	0	0	0	1	0	0	0	5912	1174	41	2		2	FREM2	13	38864443	Missense_Mutation	SNP	G	C3N-00217_TP	1	38864443	75499885	421	12859	297	2									
INTS6	0	.	GRCh38	chr13	51374270	51374270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagttgtaggtgcaggtggtCcttttcccccaatatgattg	7	14	12	8	0	0	1	0	1	0	0	2	2	2	1	3	3	1	3	3	3	3	6	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2042G>A	p.Gly681Glu	p.G681E	ENST00000311234	15/18	361	298	63	330	330	0	strelka-mutect	INTS6,missense_variant,p.Gly668Glu,ENST00000398119,NM_001039937.1;INTS6,missense_variant,p.Gly681Glu,ENST00000311234,NM_012141.2;INTS6,missense_variant,p.Gly503Glu,ENST00000497989,NM_001306091.1;INTS6,missense_variant,p.Gly365Glu,ENST00000490542,;INTS6,3_prime_UTR_variant,,ENST00000469430,;INTS6,non_coding_transcript_exon_variant,,ENST00000483441,;	T	ENST00000311234	Transcript	missense_variant	2515/3662	2042/2664	681/887	G/E	gGa/gAa		1		-1	INTS6	HGNC	HGNC:14879	protein_coding	YES	CCDS9428.1	ENSP00000310260	Q9UL03	A0A024RDU0	UPI0000030C84	NM_012141.2	tolerated(0.41)		15/18		hmmpanther:PTHR12957:SF23,hmmpanther:PTHR12957																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	51374270	51374270	C	T	1	0	0	0	0	1	0	0	0	7684	855	30	3		3	INTS6	13	51374270	Missense_Mutation	SNP	C	C3N-00217_TP	12509827	51374270	62990058	422	12860											
ATP7B	0	.	GRCh38	chr13	51974999	51974999	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatcctgtcctcaatggacTtcacacatgactggcaagtc	12	10	7	12	0	2	1	2	1	0	0	5	2	4	2	2	2	0	1	2	2	3	1	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.221A>T	p.Lys74Met	p.K74M	ENST00000242839	2/21	270	136	134	118	118	0	strelka-varscan-mutect	ATP7B,missense_variant,p.Lys74Met,ENST00000242839,NM_000053.3;ATP7B,missense_variant,p.Lys74Met,ENST00000448424,;ATP7B,missense_variant,p.Lys74Met,ENST00000400366,NM_001243182.1;ATP7B,missense_variant,p.Lys74Met,ENST00000344297,NM_001005918.2;ATP7B,missense_variant,p.Lys74Met,ENST00000634844,;ATP7B,missense_variant,p.Lys74Met,ENST00000418097,;ATP7B,missense_variant,p.Lys74Met,ENST00000400370,;ATP7B,non_coding_transcript_exon_variant,,ENST00000482841,;ATP7B,intron_variant,,ENST00000635406,;ATP7B,upstream_gene_variant,,ENST00000483772,;ATP7B,missense_variant,p.Lys74Met,ENST00000634308,;ATP7B,upstream_gene_variant,,ENST00000634620,;	A	ENST00000242839	Transcript	missense_variant	378/6638	221/4398	74/1465	K/M	aAg/aTg		1		-1	ATP7B	HGNC	HGNC:870	protein_coding	YES	CCDS41892.1	ENSP00000242839	P35670	A0A024RDX3	UPI00001FCE15	NM_000053.3	tolerated(0.05)		2/21		PROSITE_profiles:PS50846,PROSITE_patterns:PS01047,Pfam_domain:PF00403,Gene3D:3.30.70.100,TIGRFAM_domain:TIGR00003,Superfamily_domains:SSF55008																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	51974999	51974999	T	A	1	0	0	0	0	1	0	0	0	1344	1609	56	4		4	ATP7B	13	51974999	Missense_Mutation	SNP	T	C3N-00217_TP	600729	51974999	62389329	423	12861											
NEK3	0	.	GRCh38	chr13	52151371	52151371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcccaatttcacttttcCattctgagtgaggaagatat	10	15	7	9	0	3	3	1	2	2	1	5	4	4	4	2	1	0	0	2	1	3	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.415G>A	p.Gly139Arg	p.G139R	ENST00000618534	6/16	267	218	49	258	258	0	strelka-varscan-mutect	NEK3,missense_variant,p.Gly139Arg,ENST00000618534,NM_152720.2;NEK3,missense_variant,p.Gly139Arg,ENST00000610828,NM_002498.2;NEK3,missense_variant,p.Gly139Arg,ENST00000611833,NM_001146099.1;NEK3,missense_variant,p.Gly139Arg,ENST00000620675,;NEK3,downstream_gene_variant,,ENST00000550841,;NEK3,downstream_gene_variant,,ENST00000629912,;NEK3,missense_variant,p.Gly139Arg,ENST00000617054,;NEK3,3_prime_UTR_variant,,ENST00000551355,;NEK3,non_coding_transcript_exon_variant,,ENST00000552973,;	T	ENST00000618534	Transcript	missense_variant	810/2414	415/1521	139/506	G/R	Gga/Aga		1		-1	NEK3	HGNC	HGNC:7746	protein_coding	YES	CCDS73576.1	ENSP00000484443	P51956		UPI000012FF28	NM_152720.2	deleterious(0)		6/16		PROSITE_profiles:PS50011,hmmpanther:PTHR24362:SF7,hmmpanther:PTHR24362,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	52151371	52151371	C	T	1	0	0	0	0	1	0	0	0	10353	603	21	3		3	NEK3	13	52151371	Missense_Mutation	SNP	C	C3N-00217_TP	176372	52151371	62212957	424	12862											
PCDH17	0	.	GRCh38	chr13	57724754	57724754	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtacctacagttgaagcTaatgttgagactgagactta	12	14	9	6	0	0	3	0	3	0	2	0	5	0	3	1	0	3	4	1	0	5	7	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.2940T>A	p.=	p.A980A	ENST00000377918	4/4	327	174	153	273	273	0	strelka-varscan-mutect	PCDH17,synonymous_variant,p.=,ENST00000377918,NM_001040429.2;PCDH17,synonymous_variant,p.=,ENST00000612954,;PCDH17,downstream_gene_variant,,ENST00000615375,;PCDH17,3_prime_UTR_variant,,ENST00000484979,;	A	ENST00000377918	Transcript	synonymous_variant	3675/8232	2940/3480	980/1159	A	gcT/gcA		1		1	PCDH17	HGNC	HGNC:14267	protein_coding	YES	CCDS31986.1	ENSP00000367151	O14917		UPI00001FCE5B	NM_001040429.2			4/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41																	LOW	1	SNV	1			1										PASS		rs969507075	.												A	2	1	43	57724754	57724754	T	A	1	0	0	0	0	0	0	0	1	11599	1509	53	4		4	PCDH17	13	57724754	Silent	SNP	T	C3N-00217_TP	5573383	57724754	56639574	425	12863											
KLF12	0	.	GRCh38	chr13	73846307	73846307	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taacgagtcctccgggggctCccctttcacattatttagca	8	12	8	13	2	1	0	1	0	0	0	4	1	4	0	4	2	2	2	4	2	3	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.190G>T	p.Glu64Ter	p.E64*	ENST00000377669	3/7	290	146	144	206	204	2	strelka-varscan-mutect	KLF12,stop_gained,p.Glu64Ter,ENST00000377669,NM_007249.4;RP11-157H4.1,upstream_gene_variant,,ENST00000625150,;KLF12,non_coding_transcript_exon_variant,,ENST00000472022,;	A	ENST00000377669	Transcript	stop_gained	217/10637	190/1209	64/402	E/*	Gag/Tag		1		-1	KLF12	HGNC	HGNC:6346	protein_coding	YES	CCDS9449.1	ENSP00000366897	Q9Y4X4		UPI000013D144	NM_007249.4			3/7		hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF60																	HIGH	1	SNV	1			1										PASS		rs1173461029	.												A	4	1	43	73846307	73846307	C	A	1	0	0	0	0	0	1	0	0	8205	864	30	2		2	KLF12	13	73846307	Nonsense_Mutation	SNP	C	C3N-00217_TP	16121553	73846307	40518021	426	12864											
SLITRK1	0	.	GRCh38	chr13	83880082	83880082	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggttgttgttgagaatgaGgatcctcagtttgggcatgg	8	13	15	5	0	1	2	1	2	0	1	2	4	2	3	1	4	0	5	1	4	1	4			C3N-00217_TP	C3N-00217_NB	G	G																c.1426C>G	p.Leu476Val	p.L476V	ENST00000377084	1/1	166	79	87	154	154	0	strelka-varscan-mutect	SLITRK1,missense_variant,p.Leu476Val,ENST00000377084,NM_052910.2,NM_001281503.1;	C	ENST00000377084	Transcript	missense_variant	2312/5189	1426/2091	476/696	L/V	Ctc/Gtc	COSM1706886,COSM4048655	1		-1	SLITRK1	HGNC	HGNC:20297	protein_coding	YES	CCDS9464.1	ENSP00000366288	Q96PX8		UPI0000035971	NM_052910.2,NM_001281503.1	deleterious(0.04)		1/1		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF33,Low_complexity_(Seg):seg,SMART_domains:SM00369,Superfamily_domains:SSF52058											1,1						MODERATE	1	SNV			1,1	1										PASS		.	.												C	3	2	43	83880082	83880082	G	C	1	0	0	0	0	1	0	0	0	15033	1000	35	4		4	SLITRK1	13	83880082	Missense_Mutation	SNP	G	C3N-00217_TP	10033775	83880082	30484246	427	12865											
HS6ST3	0	.	GRCh38	chr13	96091064	96091064	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccggaggagtgggagcggCggccccagttgcccccgccg	4	3	18	16	6	0	0	0	0	0	0	0	3	0	3	6	5	2	1	6	5	0	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.202C>A	p.=	p.R68R	ENST00000376705	1/2	52	16	36	24	24	0	strelka-varscan-mutect	HS6ST3,synonymous_variant,p.=,ENST00000376705,NM_153456.3;	A	ENST00000376705	Transcript	synonymous_variant	226/7804	202/1416	68/471	R	Cgg/Agg		1		1	HS6ST3	HGNC	HGNC:19134	protein_coding	YES	CCDS9481.1	ENSP00000365895	Q8IZP7		UPI00001AF933	NM_153456.3			1/2		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	43	96091064	96091064	C	A	1	0	0	0	0	0	0	0	1	7266	759	27	1		1	HS6ST3	13	96091064	Silent	SNP	C	C3N-00217_TP	12210982	96091064	18273264	428	12866											
TMTC4	0	.	GRCh38	chr13	100635072	100635072	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaatccaaaagtcagcagCacacagtacccaacgctggg	14	4	9	14	2	1	0	1	0	0	0	2	1	2	0	3	1	4	4	3	1	5	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1326G>T	p.=	p.V442V	ENST00000342624	11/19	178	134	44	134	134	0	strelka-varscan-mutect	TMTC4,synonymous_variant,p.=,ENST00000342624,NM_032813.3;TMTC4,synonymous_variant,p.=,ENST00000376234,NM_001079669.2;TMTC4,synonymous_variant,p.=,ENST00000328767,NM_001286453.1;TMTC4,non_coding_transcript_exon_variant,,ENST00000462211,;TMTC4,non_coding_transcript_exon_variant,,ENST00000478272,;TMTC4,non_coding_transcript_exon_variant,,ENST00000496511,;TMTC4,non_coding_transcript_exon_variant,,ENST00000489713,;	A	ENST00000342624	Transcript	synonymous_variant	1585/3602	1326/2283	442/760	V	gtG/gtT		1		-1	TMTC4	HGNC	HGNC:25904	protein_coding	YES	CCDS9497.2	ENSP00000343871	Q5T4D3		UPI000004B63E	NM_032813.3			11/19		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF440,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	43	100635072	100635072	C	A	1	0	0	0	0	0	0	0	1	16737	697	25	2		2	TMTC4	13	100635072	Silent	SNP	C	C3N-00217_TP	4544008	100635072	13729256	429	12867											
NALCN	0	.	GRCh38	chr13	101283956	101283956	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggcaggctggggcgcgtcCctggggcttgttgacatcca	5	8	17	11	2	0	1	0	1	0	0	2	2	2	1	2	6	0	4	2	6	0	2	rs780182598		C3N-00217_TP	C3N-00217_NB	C	C																c.1111G>C	p.Gly371Arg	p.G371R	ENST00000251127	10/44	143	114	29	174	174	0	strelka-varscan-mutect	NALCN,missense_variant,p.Gly371Arg,ENST00000251127,NM_052867.2;NALCN,non_coding_transcript_exon_variant,,ENST00000470333,;NALCN,non_coding_transcript_exon_variant,,ENST00000497170,;	G	ENST00000251127	Transcript	missense_variant	1193/6818	1111/5217	371/1738	G/R	Gga/Cga	rs780182598	1		-1	NALCN	HGNC	HGNC:19082	protein_coding	YES	CCDS9498.1	ENSP00000251127	Q8IZF0	A0A024RE05	UPI000004EBBD	NM_052867.2	deleterious(0.03)		10/44		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF214																	MODERATE	1	SNV	1			1										PASS		rs780182598	.												G	3	3	43	101283956	101283956	C	G	1	0	0	0	0	1	0	0	0	10155	632	22	4		4	NALCN	13	101283956	Missense_Mutation	SNP	C	C3N-00217_TP	648884	101283956	13080372	430	12868											
NALCN	0	.	GRCh38	chr13	101395221	101395221	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatttttgctatcatctCtgccgtgtagagaaacatca	10	14	8	9	1	3	1	2	0	1	1	4	2	3	1	1	0	4	3	1	0	3	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.253G>T	p.Glu85Ter	p.E85*	ENST00000251127	3/44	92	72	20	141	140	1	strelka-varscan-mutect	NALCN,stop_gained,p.Glu85Ter,ENST00000251127,NM_052867.2;NALCN,stop_gained,p.Glu85Ter,ENST00000376200,;NALCN,non_coding_transcript_exon_variant,,ENST00000470333,;NALCN,non_coding_transcript_exon_variant,,ENST00000497170,;	A	ENST00000251127	Transcript	stop_gained	335/6818	253/5217	85/1738	E/*	Gag/Tag		1		-1	NALCN	HGNC	HGNC:19082	protein_coding	YES	CCDS9498.1	ENSP00000251127	Q8IZF0	A0A024RE05	UPI000004EBBD	NM_052867.2			3/44		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF214,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	43	101395221	101395221	C	A	1	0	0	0	0	0	1	0	0	10155	922	32	2		2	NALCN	13	101395221	Nonsense_Mutation	SNP	C	C3N-00217_TP	111265	101395221	12969107	431	12869											
CCDC168	0	.	GRCh38	chr13	102749094	102749094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagctatatctgatatatCtttcctttcatgtaattctt	11	19	3	8	0	4	1	1	1	3	0	5	1	5	1	1	0	1	2	1	0	6	9	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1603G>A	p.Asp535Asn	p.D535N	ENST00000322527	4/4	80	42	38	84	84	0	strelka-varscan-mutect	CCDC168,missense_variant,p.Asp535Asn,ENST00000322527,NM_001146197.1;LINC00283,downstream_gene_variant,,ENST00000430111,;	T	ENST00000322527	Transcript	missense_variant	1741/21466	1603/21246	535/7081	D/N	Gat/Aat		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	tolerated(0.17)		4/4																			MODERATE	1	SNV	3			1										PASS		.	.												T	3	4	43	102749094	102749094	C	T	1	0	0	0	0	1	0	0	0	2484	913	32	3		3	CCDC168	13	102749094	Missense_Mutation	SNP	C	C3N-00217_TP	1353873	102749094	11615234	432	12870											
SLC10A2	0	.	GRCh38	chr13	103051309	103051309	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaaaccccagggagtaacCcgccacaggaaatattgttc	15	6	9	11	1	0	1	0	0	0	1	1	3	0	3	4	2	2	2	4	2	5	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.709G>T	p.Gly237Cys	p.G237C	ENST00000245312	4/6	469	349	120	326	325	1	strelka-varscan-mutect	SLC10A2,missense_variant,p.Gly237Cys,ENST00000245312,NM_000452.2;	A	ENST00000245312	Transcript	missense_variant	1306/3779	709/1047	237/348	G/C	Ggt/Tgt		1		-1	SLC10A2	HGNC	HGNC:10906	protein_coding	YES	CCDS9506.1	ENSP00000245312	Q12908		UPI000013CB9B	NM_000452.2	deleterious(0)		4/6		Transmembrane_helices:TMhelix,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF19,TIGRFAM_domain:TIGR00841																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	103051309	103051309	C	A	1	0	0	0	0	1	0	0	0	14639	623	22	2		2	SLC10A2	13	103051309	Missense_Mutation	SNP	C	C3N-00217_TP	302215	103051309	11313019	433	12871											
MYO16	0	.	GRCh38	chr13	108806801	108806801	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacttggcagccaaatatggCcaggtagagtgatttgctga	11	10	12	8	0	0	3	0	2	0	1	0	3	0	3	2	3	2	3	2	3	3	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.864C>A	p.=	p.G288G	ENST00000457511	7/35	201	153	48	173	173	0	strelka-varscan-mutect	MYO16,synonymous_variant,p.=,ENST00000457511,NM_001198950.1;MYO16,synonymous_variant,p.=,ENST00000356711,NM_015011.1;MYO16,synonymous_variant,p.=,ENST00000357550,;MYO16,synonymous_variant,p.=,ENST00000251041,;MYO16,non_coding_transcript_exon_variant,,ENST00000375857,;	A	ENST00000457511	Transcript	synonymous_variant	1486/7436	864/5643	288/1880	G	ggC/ggA		1		1	MYO16	HGNC	HGNC:29822	protein_coding	YES	CCDS73598.1	ENSP00000401633		F8W883	UPI00002375AE	NM_001198950.1			7/35		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	43	108806801	108806801	C	A	1	0	0	0	0	0	0	0	1	10065	753	26	2		2	MYO16	13	108806801	Silent	SNP	C	C3N-00217_TP	5755492	108806801	5557527	434	12872											
COL4A1	0	.	GRCh38	chr13	110167215	110167215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttagagcctgtgattcctgGagagccaccaataccctaga	11	9	9	12	0	0	4	0	1	0	3	1	5	1	4	5	1	3	0	5	1	4	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3892C>A	p.Pro1298Thr	p.P1298T	ENST00000375820	44/52	522	394	128	368	367	1	strelka-varscan-mutect	COL4A1,missense_variant,p.Pro1298Thr,ENST00000375820,NM_001845.5;COL4A1,upstream_gene_variant,,ENST00000467182,;COL4A1,upstream_gene_variant,,ENST00000474391,;	T	ENST00000375820	Transcript	missense_variant	4014/6532	3892/5010	1298/1669	P/T	Cca/Aca		1		-1	COL4A1	HGNC	HGNC:2202	protein_coding	YES	CCDS9511.1	ENSP00000364979	P02462		UPI000004981D	NM_001845.5	deleterious(0)		44/52		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF543,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	110167215	110167215	G	T	1	0	0	0	0	1	0	0	0	3478	1174	41	2		2	COL4A1	13	110167215	Missense_Mutation	SNP	G	C3N-00217_TP	1360414	110167215	4197113	435	12873											
COL4A1	0	.	GRCh38	chr13	110173968	110173968	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcccctttctggccagctGggcctgtggggccaggagtc	3	9	15	14	0	1	0	0	0	1	0	3	1	2	1	5	5	1	2	5	5	0	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3437C>G	p.Pro1146Arg	p.P1146R	ENST00000375820	40/52	466	283	183	314	314	0	strelka-varscan-mutect	COL4A1,missense_variant,p.Pro1146Arg,ENST00000375820,NM_001845.5;	C	ENST00000375820	Transcript	missense_variant	3559/6532	3437/5010	1146/1669	P/R	cCa/cGa		1		-1	COL4A1	HGNC	HGNC:2202	protein_coding	YES	CCDS9511.1	ENSP00000364979	P02462		UPI000004981D	NM_001845.5	tolerated(0.06)		40/52		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF543,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	110173968	110173968	G	C	1	0	0	0	0	1	0	0	0	3478	1348	47	4		4	COL4A1	13	110173968	Missense_Mutation	SNP	G	C3N-00217_TP	6753	110173968	4190360	436	12874											
OR4K13	0	.	GRCh38	chr14	20034086	20034086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actagcagcacggtacctaaCtgagaatattatgactccat	14	10	7	10	1	0	2	0	2	0	1	1	3	1	2	2	1	4	3	2	1	6	5	rs767834956		C3N-00217_TP	C3N-00217_NB	C	C																c.673G>T	p.Val225Phe	p.V225F	ENST00000315693	1/1	354	159	195	336	335	1	strelka-varscan-mutect	OR4K13,missense_variant,p.Val225Phe,ENST00000315693,NM_001004714.1;	A	ENST00000315693	Transcript	missense_variant	675/917	673/915	225/304	V/F	Gtt/Ttt	rs767834956	1		-1	OR4K13	HGNC	HGNC:15351	protein_coding	YES	CCDS32028.1	ENSP00000319322	Q8NH42	A0A126GVS2	UPI0000041CEB	NM_001004714.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF123,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs767834956	.												A	3	1	43	20034086	20034086	C	A	1	0	0	0	0	1	0	0	0	11145	565	20	2		2	OR4K13	14	20034086	Missense_Mutation	SNP	C	C3N-00217_TP		20034086	87009632	437	12875											
OR11G2	0	.	GRCh38	chr14	20198275	20198275	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagcagaagactgtgactCtgttttattctgttgttacc	10	15	9	7	0	2	3	0	1	2	2	2	4	2	3	1	0	2	4	1	0	4	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.940C>G	p.Leu314Val	p.L314V	ENST00000357366	1/1	147	129	18	160	160	0	strelka-varscan-mutect	OR11G2,missense_variant,p.Leu314Val,ENST00000357366,NM_001005503.1;	G	ENST00000357366	Transcript	missense_variant	940/1111	940/1038	314/345	L/V	Ctg/Gtg		1		1	OR11G2	HGNC	HGNC:15346	protein_coding	YES	CCDS32032.1	ENSP00000349930	Q8NGC1		UPI000015F241	NM_001005503.1	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF183,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs1220683434	.												G	3	3	43	20198275	20198275	C	G	1	0	0	0	0	1	0	0	0	11001	912	32	4		4	OR11G2	14	20198275	Missense_Mutation	SNP	C	C3N-00217_TP	164189	20198275	86845443	438	12876											
CHD8	0	.	GRCh38	chr14	21393945	21393945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagagaagtctgggtcctgCatgatgttgcagtctgtttg	9	13	13	6	0	2	2	0	1	2	1	3	3	3	2	1	1	2	4	1	1	2	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.5850G>A	p.Met1950Ile	p.M1950I	ENST00000399982	31/37	209	148	61	194	194	0	strelka-varscan-mutect	CHD8,missense_variant,p.Met1950Ile,ENST00000399982,NM_001170629.1;CHD8,missense_variant,p.Met1950Ile,ENST00000557364,;CHD8,missense_variant,p.Met1671Ile,ENST00000430710,NM_020920.3;CHD8,upstream_gene_variant,,ENST00000553870,;SNORD8,downstream_gene_variant,,ENST00000363915,;SNORD9,upstream_gene_variant,,ENST00000362566,;CHD8,downstream_gene_variant,,ENST00000555962,;CHD8,non_coding_transcript_exon_variant,,ENST00000555301,;CHD8,downstream_gene_variant,,ENST00000557329,;RP11-689J19.1,upstream_gene_variant,,ENST00000480068,;	T	ENST00000399982	Transcript	missense_variant	5915/8229	5850/7746	1950/2581	M/I	atG/atA		1		-1	CHD8	HGNC	HGNC:20153	protein_coding	YES	CCDS53885.1	ENSP00000382863	Q9HCK8		UPI00002375B9	NM_001170629.1	deleterious(0.01)		31/37																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	21393945	21393945	C	T	1	0	0	0	0	1	0	0	0	3090	710	25	3		3	CHD8	14	21393945	Missense_Mutation	SNP	C	C3N-00217_TP	1195670	21393945	85649773	439	12877											
NPAS3	0	.	GRCh38	chr14	33215320	33215320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctcgacaaggcatccatCattcgacttacaattagcta	13	10	6	12	2	1	0	1	0	0	0	4	2	2	0	1	1	3	3	1	1	5	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.279C>T	p.=	p.I93I	ENST00000356141	3/12	451	359	92	322	322	0	strelka-varscan-mutect	NPAS3,synonymous_variant,p.=,ENST00000346562,NM_022123.2;NPAS3,synonymous_variant,p.=,ENST00000548645,NM_001165893.1;NPAS3,synonymous_variant,p.=,ENST00000551492,;NPAS3,synonymous_variant,p.=,ENST00000356141,NM_001164749.1;NPAS3,synonymous_variant,p.=,ENST00000357798,NM_173159.2;NPAS3,synonymous_variant,p.=,ENST00000551634,;NPAS3,synonymous_variant,p.=,ENST00000546849,;NPAS3,5_prime_UTR_variant,,ENST00000547068,;NPAS3,5_prime_UTR_variant,,ENST00000551008,;NPAS3,non_coding_transcript_exon_variant,,ENST00000549770,;	T	ENST00000356141	Transcript	synonymous_variant	279/2802	279/2802	93/933	I	atC/atT		1		1	NPAS3	HGNC	HGNC:19311	protein_coding	YES	CCDS53891.1	ENSP00000348460	Q8IXF0	X5D2Q4	UPI00000743C2	NM_001164749.1			3/12		PROSITE_profiles:PS50888,hmmpanther:PTHR23043:SF30,hmmpanther:PTHR23043,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	33215320	33215320	C	T	1	0	0	0	0	0	0	0	1	10612	816	29	3		3	NPAS3	14	33215320	Silent	SNP	C	C3N-00217_TP	11821375	33215320	73828398	440	12878											
VRTN	0	.	GRCh38	chr14	74357180	74357180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagtgatgctgcaggccGtgcgctactccctatgctct	7	10	10	14	2	1	1	0	1	1	0	2	1	2	1	3	1	5	4	3	1	3	2	rs773509797		C3N-00217_TP	C3N-00217_NB	G	G																c.397G>T	p.Val133Leu	p.V133L	ENST00000256362	2/2	141	111	30	71	71	0	strelka-varscan-mutect	VRTN,missense_variant,p.Val133Leu,ENST00000256362,NM_018228.2;VRTN,downstream_gene_variant,,ENST00000557177,;	T	ENST00000256362	Transcript	missense_variant	638/3466	397/2109	133/702	V/L	Gtg/Ttg	rs773509797,COSM32986	1		1	VRTN	HGNC	HGNC:20223	protein_coding	YES	CCDS9830.1	ENSP00000256362	Q9H8Y1		UPI00000737D5	NM_018228.2	tolerated(0.1)		2/2		hmmpanther:PTHR16081,hmmpanther:PTHR16081:SF0											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs773509797	.												T	3	4	43	74357180	74357180	G	T	1	0	0	0	0	1	0	0	0	17771	1145	40	1		1	VRTN	14	74357180	Missense_Mutation	SNP	G	C3N-00217_TP	41141860	74357180	32686538	441	12879											
STON2	0	.	GRCh38	chr14	81278066	81278066	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaccgtgctgatccaggcggGtgagcatctagttcaatcca	9	9	12	11	2	2	2	1	2	1	0	4	3	4	2	3	2	2	3	3	2	2	2	rs562599312		C3N-00217_TP	C3N-00217_NB	G	G																c.1245C>G	p.His415Gln	p.H415Q	ENST00000555447	6/8	374	135	239	215	214	1	strelka-varscan-mutect	STON2,missense_variant,p.His415Gln,ENST00000555447,NM_001256430.1;STON2,missense_variant,p.His415Gln,ENST00000267540,NM_033104.3;STON2,missense_variant,p.His415Gln,ENST00000614646,;STON2,upstream_gene_variant,,ENST00000553821,;STON2,downstream_gene_variant,,ENST00000556280,;STON2,non_coding_transcript_exon_variant,,ENST00000555284,;	C	ENST00000555447	Transcript	missense_variant	1658/4302	1245/2763	415/920	H/Q	caC/caG	rs562599312	1		-1	STON2	HGNC	HGNC:30652	protein_coding	YES	CCDS58332.1	ENSP00000450857	Q8WXE9		UPI00001FD96B	NM_001256430.1	tolerated(0.29)		6/8		PIRSF_domain:PIRSF037099																	MODERATE	1	SNV	1			1										PASS		rs562599312	.												C	3	2	43	81278066	81278066	G	C	1	0	0	0	0	1	0	0	0	15696	1252	44	4		4	STON2	14	81278066	Missense_Mutation	SNP	G	C3N-00217_TP	6920886	81278066	25765652	442	12880											
GALC	0	.	GRCh38	chr14	87968348	87968348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttacgaagtcatatagcCattgatataattctgattta	15	15	5	6	1	2	2	1	2	1	0	2	3	2	2	1	0	3	0	1	0	8	9	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.895G>T	p.Gly299Cys	p.G299C	ENST00000261304	8/17	178	66	112	118	117	1	strelka-varscan-mutect	GALC,missense_variant,p.Gly299Cys,ENST00000261304,NM_000153.3;GALC,missense_variant,p.Gly273Cys,ENST00000393569,NM_001201402.1;GALC,missense_variant,p.Gly243Cys,ENST00000544807,;GALC,missense_variant,p.Gly276Cys,ENST00000393568,NM_001201401.1;GALC,missense_variant,p.Gly296Cys,ENST00000622264,;GALC,upstream_gene_variant,,ENST00000557520,;GALC,missense_variant,p.Gly88Cys,ENST00000555000,;GALC,3_prime_UTR_variant,,ENST00000557316,;GALC,non_coding_transcript_exon_variant,,ENST00000474294,;GALC,downstream_gene_variant,,ENST00000477716,;	A	ENST00000261304	Transcript	missense_variant	1002/3883	895/2058	299/685	G/C	Ggc/Tgc		1		-1	GALC	HGNC	HGNC:4115	protein_coding	YES	CCDS9878.2	ENSP00000261304		A0A0A0MQV0	UPI00001FD982	NM_000153.3	deleterious(0)		8/17		Gene3D:3.20.20.80,Pfam_domain:PF02057,hmmpanther:PTHR15172,hmmpanther:PTHR15172:SF1,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	87968348	87968348	C	A	1	0	0	0	0	1	0	0	0	6069	594	21	2		2	GALC	14	87968348	Missense_Mutation	SNP	C	C3N-00217_TP	6690282	87968348	19075370	443	12881											
LGMN	0	.	GRCh38	chr14	92704680	92704680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaaaggttgaccagcaCgtacaaatgtctcaacgcat	14	8	7	12	2	2	1	2	1	1	0	3	1	2	1	1	1	3	4	1	1	4	2	rs149227402		C3N-00217_TP	C3N-00217_NB	C	C																c.1219G>T	p.Val407Leu	p.V407L	ENST00000393218	14/15	161	150	11	123	123	0	strelka-varscan-mutect	LGMN,missense_variant,p.Val407Leu,ENST00000393218,NM_001008530.2;LGMN,missense_variant,p.Val407Leu,ENST00000334869,NM_005606.6;LGMN,missense_variant,p.Val350Leu,ENST00000557434,;LGMN,intron_variant,,ENST00000555699,;LGMN,intron_variant,,ENST00000555169,;LGMN,3_prime_UTR_variant,,ENST00000557609,;LGMN,non_coding_transcript_exon_variant,,ENST00000556790,;LGMN,downstream_gene_variant,,ENST00000557725,;	A	ENST00000393218	Transcript	missense_variant	1557/2115	1219/1302	407/433	V/L	Gtg/Ttg	rs149227402	1		-1	LGMN	HGNC	HGNC:9472	protein_coding	YES	CCDS9904.1	ENSP00000376911	Q99538	Q53XC6	UPI000000CC65	NM_001008530.2	tolerated(0.07)		14/15		hmmpanther:PTHR12000:SF3,hmmpanther:PTHR12000,PIRSF_domain:PIRSF500139,PIRSF_domain:PIRSF019663																	MODERATE	1	SNV	1			1										PASS		rs149227402	.												A	3	1	43	92704680	92704680	C	A	1	0	0	0	0	1	0	0	0	8665	536	19	1		1	LGMN	14	92704680	Missense_Mutation	SNP	C	C3N-00217_TP	4736332	92704680	14339038	444	12882											
AHNAK2	0	.	GRCh38	chr14	104944612	104944612	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccgcccagcatccagcttGgccttcggggcctggacatc	6	7	12	16	2	0	0	0	0	0	0	3	1	1	1	5	4	3	2	5	4	0	2	rs768951245		C3N-00217_TP	C3N-00217_NB	G	G																c.10839C>A	p.=	p.A3613A	ENST00000333244	7/7	616	212	404	403	402	1	strelka-varscan-mutect	AHNAK2,synonymous_variant,p.=,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	T	ENST00000333244	Transcript	synonymous_variant	10959/18254	10839/17388	3613/5795	A	gcC/gcA	rs768951245	1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2			7/7		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37																	LOW	1	SNV	5			1										PASS		rs768951245	.												T	2	4	43	104944612	104944612	G	T	1	0	0	0	0	0	0	0	1	492	1335	47	2		2	AHNAK2	14	104944612	Silent	SNP	G	C3N-00217_TP	12239932	104944612	2099106	445	12883											
AHNAK2	0	.	GRCh38	chr14	104950755	104950755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccggctccctcggacaCagggccctctgggagtttca	6	7	14	14	2	2	0	1	0	1	0	4	3	3	2	3	5	0	2	3	5	0	1	rs776678150		C3N-00217_TP	C3N-00217_NB	C	C																c.4696G>T	p.Val1566Leu	p.V1566L	ENST00000333244	7/7	825	726	99	461	461	0	strelka-varscan-mutect	AHNAK2,missense_variant,p.Val1566Leu,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	A	ENST00000333244	Transcript	missense_variant	4816/18254	4696/17388	1566/5795	V/L	Gtg/Ttg	rs776678150	1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	tolerated(0.66)		7/7																			MODERATE	1	SNV	5			1										PASS		rs776678150	.												A	3	1	43	104950755	104950755	C	A	1	0	0	0	0	1	0	0	0	492	478	17	2		2	AHNAK2	14	104950755	Missense_Mutation	SNP	C	C3N-00217_TP	6143	104950755	2092963	446	12884											
UBE3A	0	.	GRCh38	chr15	25375499	25375499	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagcgcctttcttgttcatTtttatctcagagcaggagtt	7	17	8	9	1	3	1	2	0	2	1	4	2	3	2	1	1	2	3	1	1	2	8	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.336A>C	p.Lys112Asn	p.K112N	ENST00000397954	6/14	157	128	29	226	226	0	strelka-varscan-mutect	UBE3A,missense_variant,p.Lys89Asn,ENST00000635914,;UBE3A,missense_variant,p.Lys89Asn,ENST00000638155,;UBE3A,missense_variant,p.Lys89Asn,ENST00000438097,;UBE3A,missense_variant,p.Lys89Asn,ENST00000638011,;UBE3A,missense_variant,p.Lys109Asn,ENST00000614096,NM_130839.2;UBE3A,missense_variant,p.Lys109Asn,ENST00000637886,;UBE3A,missense_variant,p.Lys89Asn,ENST00000630424,;UBE3A,missense_variant,p.Lys89Asn,ENST00000232165,NM_130838.1;UBE3A,missense_variant,p.Lys89Asn,ENST00000625778,;UBE3A,missense_variant,p.Lys89Asn,ENST00000566215,;UBE3A,missense_variant,p.Lys89Asn,ENST00000428984,;UBE3A,missense_variant,p.Lys112Asn,ENST00000397954,NM_000462.3;UBE3A,missense_variant,p.Lys109Asn,ENST00000630907,;UBE3A,missense_variant,p.Lys116Asn,ENST00000626068,;UBE3A,missense_variant,p.Lys109Asn,ENST00000628733,;UBE3A,downstream_gene_variant,,ENST00000630607,;UBE3A,downstream_gene_variant,,ENST00000629252,;UBE3A,downstream_gene_variant,,ENST00000628267,;UBE3A,downstream_gene_variant,,ENST00000629886,;UBE3A,downstream_gene_variant,,ENST00000628890,;SNHG14,intron_variant,,ENST00000554726,;SNHG14,downstream_gene_variant,,ENST00000453082,;UBE3A,non_coding_transcript_exon_variant,,ENST00000626793,;	G	ENST00000397954	Transcript	missense_variant	581/2873	336/2628	112/875	K/N	aaA/aaC		1		-1	UBE3A	HGNC	HGNC:12496	protein_coding	YES	CCDS45192.1	ENSP00000381045	Q05086		UPI0000161F3B	NM_000462.3	tolerated(0.27)		6/14		hmmpanther:PTHR11254,PIRSF_domain:PIRSF037201																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	43	25375499	25375499	T	G	1	0	0	0	0	1	0	0	0	17402	1838	64	5		5	UBE3A	15	25375499	Missense_Mutation	SNP	T	C3N-00217_TP		25375499	76615690	447	12885											
GABRB3	0	.	GRCh38	chr15	26621319	26621319	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagaggcacacagacctgagCccatacagcactgtcccatc	13	5	8	15	0	0	3	0	1	0	2	2	3	1	3	3	1	3	2	3	1	2	1			C3N-00217_TP	C3N-00217_NB	C	C																c.456G>A	p.=	p.G152G	ENST00000311550	4/9	380	321	59	411	411	0	strelka-varscan-mutect	GABRB3,synonymous_variant,p.=,ENST00000541819,;GABRB3,synonymous_variant,p.=,ENST00000622697,NM_001278631.1;GABRB3,synonymous_variant,p.=,ENST00000311550,NM_000814.5;GABRB3,synonymous_variant,p.=,ENST00000628124,NM_001191320.1;GABRB3,synonymous_variant,p.=,ENST00000636466,;GABRB3,synonymous_variant,p.=,ENST00000299267,NM_021912.4;GABRB3,synonymous_variant,p.=,ENST00000638099,;GABRB3,synonymous_variant,p.=,ENST00000400188,NM_001191321.2;GABRB3,synonymous_variant,p.=,ENST00000545868,;GABRB3,non_coding_transcript_exon_variant,,ENST00000635832,;GABRB3,non_coding_transcript_exon_variant,,ENST00000556166,;GABRB3,non_coding_transcript_exon_variant,,ENST00000555094,;GABRB3,non_coding_transcript_exon_variant,,ENST00000636690,;GABRB3,synonymous_variant,p.=,ENST00000635994,;GABRB3,synonymous_variant,p.=,ENST00000556636,;GABRB3,3_prime_UTR_variant,,ENST00000555632,;GABRB3,intron_variant,,ENST00000554556,;	T	ENST00000311550	Transcript	synonymous_variant	568/5781	456/1422	152/473	G	ggG/ggA	COSM1152816,COSM1152817,COSM3401653,COSM3401654,COSM3401655,COSM960023	1		-1	GABRB3	HGNC	HGNC:4083	protein_coding	YES	CCDS10019.1	ENSP00000308725	P28472		UPI000012AFB0	NM_000814.5			4/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF571,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932											1,1,1,1,1,1						LOW	1	SNV	1		1,1,1,1,1,1	1										PASS		.	.												T	2	4	43	26621319	26621319	C	T	1	0	0	0	0	0	0	0	1	6039	753	26	3		3	GABRB3	15	26621319	Silent	SNP	C	C3N-00217_TP	1245820	26621319	75369870	448	12886											
GABRA5	0	.	GRCh38	chr15	26939956	26939956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcatgacagctcacttccaCctgaaaaggaagattggcta	14	9	8	10	0	2	3	2	2	0	1	3	4	3	4	2	2	1	2	2	2	4	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.756C>A	p.His252Gln	p.H252Q	ENST00000335625	9/11	123	97	26	149	149	0	strelka-varscan-mutect	GABRA5,missense_variant,p.His252Gln,ENST00000335625,NM_000810.3;GABRA5,missense_variant,p.His252Gln,ENST00000400081,NM_001165037.1;GABRA5,missense_variant,p.His252Gln,ENST00000355395,;GABRB3,upstream_gene_variant,,ENST00000541819,;GABRA5,downstream_gene_variant,,ENST00000555182,;	A	ENST00000335625	Transcript	missense_variant	1644/3251	756/1389	252/462	H/Q	caC/caA		1		1	GABRA5	HGNC	HGNC:4079	protein_coding	YES	CCDS45194.1	ENSP00000335592	P31644		UPI000002D731	NM_000810.3	deleterious(0.03)		9/11		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR00252,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	26939956	26939956	C	A	1	0	0	0	0	1	0	0	0	6035	506	18	2		2	GABRA5	15	26939956	Missense_Mutation	SNP	C	C3N-00217_TP	318637	26939956	75051233	449	12887											
GABRG3	0	.	GRCh38	chr15	27532814	27532814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggactcgtactcccGggtctttttccccacgtcct	4	12	10	15	3	1	0	0	0	1	0	5	2	4	2	4	3	2	2	4	3	1	3	rs779933664		C3N-00217_TP	C3N-00217_NB	G	G																c.1337G>T	p.Arg446Leu	p.R446L	ENST00000615808	10/10	249	194	55	229	229	0	strelka-varscan-mutect	GABRG3,missense_variant,p.Arg446Leu,ENST00000615808,NM_033223.4;GABRG3,missense_variant,p.Arg267Leu,ENST00000333743,;GABRG3,downstream_gene_variant,,ENST00000451330,;RP11-100M12.3,intron_variant,,ENST00000556642,;RP11-100M12.3,downstream_gene_variant,,ENST00000557170,;	T	ENST00000615808	Transcript	missense_variant	1591/10768	1337/1404	446/467	R/L	cGg/cTg	rs779933664	1		1	GABRG3	HGNC	HGNC:4088	protein_coding	YES	CCDS45195.1	ENSP00000479113	Q99928		UPI000012AFCB	NM_033223.4	deleterious(0)		10/10		Gene3D:1.20.58.390,Pfam_domain:PF02932,Prints_domain:PR00253,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF195,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs779933664	.												T	3	4	43	27532814	27532814	G	T	1	0	0	0	0	1	0	0	0	6044	1116	39	1		1	GABRG3	15	27532814	Missense_Mutation	SNP	G	C3N-00217_TP	592858	27532814	74458375	450	12888											
HERC2	0	.	GRCh38	chr15	28144206	28144206	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggatggacaggagaggaCgcagcggtcagagaggagtt	12	5	18	6	2	1	2	1	0	0	2	1	8	1	6	0	6	1	2	0	6	0	1	rs149280444		C3N-00217_TP	C3N-00217_NB	C	C																c.11170G>C	p.Val3724Leu	p.V3724L	ENST00000261609	73/93	175	152	23	191	191	0	strelka-mutect	HERC2,missense_variant,p.Val3724Leu,ENST00000261609,NM_004667.5;HERC2,upstream_gene_variant,,ENST00000564519,;	G	ENST00000261609	Transcript	missense_variant	11279/15337	11170/14505	3724/4834	V/L	Gtc/Ctc	rs149280444,COSM3732752	1		-1	HERC2	HGNC	HGNC:4868	protein_coding	YES	CCDS10021.1	ENSP00000261609	O95714		UPI00004578F7	NM_004667.5	deleterious(0.04)		73/93													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs149280444	.												G	3	3	43	28144206	28144206	C	G	1	0	0	0	0	1	0	0	0	6942	536	19	4		4	HERC2	15	28144206	Missense_Mutation	SNP	C	C3N-00217_TP	611392	28144206	73846983	451	12889											
GOLGA8F	0	.	GRCh38	chr15	28384158	28384158	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcttcagcagttctccagCcgcagtaaagcacgtatgga	11	9	9	12	2	3	0	1	0	2	0	4	1	3	1	2	1	3	6	2	1	3	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.639C>G	p.Ser213Arg	p.S213R	ENST00000532622	9/19	76	30	46	69	69	0	strelka-varscan-mutect	GOLGA8F,missense_variant,p.Ser213Arg,ENST00000532622,;GOLGA8F,5_prime_UTR_variant,,ENST00000526619,;RN7SL238P,upstream_gene_variant,,ENST00000613832,;GOLGA8F,downstream_gene_variant,,ENST00000568250,;GOLGA8F,downstream_gene_variant,,ENST00000568913,;GOLGA8F,downstream_gene_variant,,ENST00000565126,;GOLGA8F,downstream_gene_variant,,ENST00000564114,;	G	ENST00000532622	Transcript	missense_variant	701/2009	639/1947	213/648	S/R	agC/agG		1		1	GOLGA8F	HGNC	HGNC:32378	protein_coding	YES		ENSP00000454322		H3BMC3	UPI00024672FE		deleterious(0.03)		9/19		hmmpanther:PTHR10881:SF48,hmmpanther:PTHR10881																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	43	28384158	28384158	C	G	1	0	0	0	0	1	0	0	0	6449	738	26	4		4	GOLGA8F	15	28384158	Missense_Mutation	SNP	C	C3N-00217_TP	239952	28384158	73607031	452	12890											
FMN1	0	.	GRCh38	chr15	32910498	32910498	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatataaggctgccagggtCtccagatcaaccacggagtc	11	8	10	12	1	3	1	2	0	1	1	5	2	3	2	3	3	2	1	3	3	3	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.3264G>T	p.Glu1088Asp	p.E1088D	ENST00000616417	11/21	163	129	34	182	181	1	strelka-varscan-mutect	FMN1,missense_variant,p.Glu1088Asp,ENST00000616417,NM_001277313.1;FMN1,missense_variant,p.Glu865Asp,ENST00000334528,NM_001103184.3;FMN1,missense_variant,p.Glu1088Asp,ENST00000559047,;FMN1,missense_variant,p.Glu990Asp,ENST00000561249,;FMN1,missense_variant,p.Glu42Asp,ENST00000560317,;FMN1,non_coding_transcript_exon_variant,,ENST00000558628,;	A	ENST00000616417	Transcript	missense_variant	3768/13529	3264/4260	1088/1419	E/D	gaG/gaT		1		-1	FMN1	HGNC	HGNC:3768	protein_coding	YES	CCDS61581.1	ENSP00000479134	Q68DA7		UPI0001AE68B4	NM_001277313.1	tolerated(0.05)		11/21		PROSITE_profiles:PS51444,hmmpanther:PTHR13037:SF11,hmmpanther:PTHR13037,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447,Prints_domain:PR00828																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	43	32910498	32910498	C	A	1	0	0	0	0	1	0	0	0	5805	912	32	2		2	FMN1	15	32910498	Missense_Mutation	SNP	C	C3N-00217_TP	4526340	32910498	69080691	453	12891											
RYR3	0	.	GRCh38	chr15	33636410	33636410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaaggaagtgggtattttgGgcgtacctggcagccagggg	8	9	17	7	1	1	0	1	0	0	0	1	1	1	1	2	6	2	3	2	6	4	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3416G>T	p.Gly1139Val	p.G1139V	ENST00000634891	27/104	235	147	88	306	306	0	strelka-varscan-mutect	RYR3,missense_variant,p.Gly1139Val,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Gly1139Val,ENST00000622037,;RYR3,missense_variant,p.Gly1139Val,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Gly1139Val,ENST00000389232,;RYR3,missense_variant,p.Gly1139Val,ENST00000634418,;	T	ENST00000634891	Transcript	missense_variant	3517/15591	3416/14613	1139/4870	G/V	gGg/gTg		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	deleterious(0)		27/104		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	33636410	33636410	G	T	1	0	0	0	0	1	0	0	0	14030	1232	43	2		2	RYR3	15	33636410	Missense_Mutation	SNP	G	C3N-00217_TP	725912	33636410	68354779	454	12892											
RYR3	0	.	GRCh38	chr15	33670551	33670551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggaggaggaggagagatGccccagtaagtgacattgcc	12	5	16	8	1	0	2	0	1	0	1	0	8	0	6	3	4	2	1	3	4	1	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.5855G>T	p.Cys1952Phe	p.C1952F	ENST00000634891	38/104	40	35	5	76	76	0	strelka-varscan-mutect	RYR3,missense_variant,p.Cys1952Phe,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Cys1952Phe,ENST00000622037,;RYR3,missense_variant,p.Cys1952Phe,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Cys1952Phe,ENST00000389232,;RYR3,missense_variant,p.Cys1952Phe,ENST00000634418,;	T	ENST00000634891	Transcript	missense_variant	5956/15591	5855/14613	1952/4870	C/F	tGc/tTc		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	tolerated(0.71)		38/104		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	33670551	33670551	G	T	1	0	0	0	0	1	0	0	0	14030	1333	46	2		2	RYR3	15	33670551	Missense_Mutation	SNP	G	C3N-00217_TP	34141	33670551	68320638	455	12893											
SLC12A6	0	.	GRCh38	chr15	34245377	34245377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtaaagcccaggtaggttcCccattggctttgctgtggcc	7	11	12	11	0	0	0	0	0	0	0	1	0	1	0	4	4	2	5	4	4	3	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1851G>A	p.=	p.G617G	ENST00000354181	15/26	438	355	83	407	407	0	strelka-varscan-mutect	SLC12A6,synonymous_variant,p.=,ENST00000290209,NM_005135.2;SLC12A6,synonymous_variant,p.=,ENST00000354181,;SLC12A6,synonymous_variant,p.=,ENST00000458406,NM_001042494.1;SLC12A6,synonymous_variant,p.=,ENST00000560611,NM_133647.1;SLC12A6,synonymous_variant,p.=,ENST00000397707,NM_001042497.1;SLC12A6,synonymous_variant,p.=,ENST00000397702,NM_001042495.1;SLC12A6,synonymous_variant,p.=,ENST00000558589,NM_001042496.1;SLC12A6,synonymous_variant,p.=,ENST00000560164,;SLC12A6,synonymous_variant,p.=,ENST00000558667,;SLC12A6,synonymous_variant,p.=,ENST00000561080,;SLC12A6,synonymous_variant,p.=,ENST00000559664,;SLC12A6,synonymous_variant,p.=,ENST00000559523,;SLC12A6,upstream_gene_variant,,ENST00000558950,;SLC12A6,upstream_gene_variant,,ENST00000560023,;	T	ENST00000354181	Transcript	synonymous_variant	2344/4568	1851/3453	617/1150	G	ggG/ggA		1		-1	SLC12A6	HGNC	HGNC:10914	protein_coding	YES	CCDS58352.1	ENSP00000346112	Q9UHW9	A0A024R9I5	UPI0000135427				15/26		Pfam_domain:PF00324,Prints_domain:PR01081,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF66,TIGRFAM_domain:TIGR00930																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	34245377	34245377	C	T	1	0	0	0	0	0	0	0	1	14652	610	22	3		3	SLC12A6	15	34245377	Silent	SNP	C	C3N-00217_TP	574826	34245377	67745812	456	12894											
TMCO5A	0	.	GRCh38	chr15	37951153	37951153	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtactgcccaaggtactGggcaggagcaccttgtggaa	11	8	13	9	0	0	0	0	0	0	0	0	2	0	2	2	4	4	4	2	4	5	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.786G>T	p.=	p.L262L	ENST00000319669	11/11	245	151	94	270	270	0	strelka-varscan-mutect	TMCO5A,synonymous_variant,p.=,ENST00000319669,NM_152453.3;TMCO5A,intron_variant,,ENST00000559502,;TMCO5A,3_prime_UTR_variant,,ENST00000560653,;	T	ENST00000319669	Transcript	synonymous_variant	888/1274	786/867	262/288	L	ctG/ctT		1		1	TMCO5A	HGNC	HGNC:28558	protein_coding	YES	CCDS10046.1	ENSP00000327234	Q8N6Q1	A0A024R9I9	UPI00001BBFD2	NM_152453.3			11/11		hmmpanther:PTHR22422:SF7,hmmpanther:PTHR22422,Pfam_domain:PF14992																	LOW	1	SNV	1			1										PASS		rs1425678244	.												T	2	4	43	37951153	37951153	G	T	1	0	0	0	0	0	0	0	1	16445	1335	47	2		2	TMCO5A	15	37951153	Silent	SNP	G	C3N-00217_TP	3705776	37951153	64040036	457	12895											
MAP1A	0	.	GRCh38	chr15	43524511	43524511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacacaccctttcatcagtCcccagtggaagaaaagtctg	12	8	7	14	0	3	1	2	0	1	1	4	2	4	2	4	1	0	0	4	1	3	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.3038C>A	p.Ser1013Tyr	p.S1013Y	ENST00000300231	4/6	257	204	53	244	244	0	strelka-varscan-mutect	MAP1A,missense_variant,p.Ser1251Tyr,ENST00000382031,;MAP1A,missense_variant,p.Ser1013Tyr,ENST00000300231,NM_002373.5;	A	ENST00000300231	Transcript	missense_variant	3488/10258	3038/8412	1013/2803	S/Y	tCc/tAc		1		1	MAP1A	HGNC	HGNC:6835	protein_coding	YES	CCDS42031.1	ENSP00000300231	P78559		UPI000013E63C	NM_002373.5	deleterious(0)		4/6		hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF6																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	43	43524511	43524511	C	A	1	0	0	0	0	1	0	0	0	9150	855	30	2		2	MAP1A	15	43524511	Missense_Mutation	SNP	C	C3N-00217_TP	5573358	43524511	58466678	458	12896											
STRC	0	.	GRCh38	chr15	43617694	43617694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatagaggggggcccccaCtgtgcgtagcagaccgcccc	8	4	14	15	2	0	2	0	0	0	2	0	2	0	2	5	3	3	3	5	3	2	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.727G>T	p.Val243Leu	p.V243L	ENST00000450892	2/29	29	25	4	36	36	0	varscan-mutect	STRC,missense_variant,p.Val243Leu,ENST00000450892,NM_153700.2;STRC,missense_variant,p.Val183Leu,ENST00000432436,;STRC,5_prime_UTR_variant,,ENST00000541030,;STRC,missense_variant,p.Val243Leu,ENST00000428650,;STRC,missense_variant,p.Val243Leu,ENST00000440125,;STRC,upstream_gene_variant,,ENST00000485556,;STRC,upstream_gene_variant,,ENST00000471703,;STRC,upstream_gene_variant,,ENST00000448437,;STRC,upstream_gene_variant,,ENST00000455136,;STRC,upstream_gene_variant,,ENST00000483250,;STRC,upstream_gene_variant,,ENST00000470279,;	A	ENST00000450892	Transcript	missense_variant	805/5680	727/5328	243/1775	V/L	Gtg/Ttg		1		-1	STRC	HGNC	HGNC:16035	protein_coding	YES	CCDS10098.1	ENSP00000401513	Q7RTU9		UPI000013E60F	NM_153700.2	tolerated(0.09)		2/29																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	43	43617694	43617694	C	A	1	0	0	0	0	1	0	0	0	15709	565	20	2		2	STRC	15	43617694	Missense_Mutation	SNP	C	C3N-00217_TP	93183	43617694	58373495	459	12897											
DUOX2	0	.	GRCh38	chr15	45108085	45108085	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccagtagcggtcaccatcCcgcagccgtacaaactggtc	11	6	9	15	3	1	0	1	0	0	0	3	0	2	0	4	2	5	3	4	2	4	2	rs752704146		C3N-00217_TP	C3N-00217_NB	C	C																c.1536G>T	p.=	p.R512R	ENST00000603300	13/34	364	238	126	274	274	0	strelka-varscan-mutect	DUOX2,synonymous_variant,p.=,ENST00000389039,;DUOX2,synonymous_variant,p.=,ENST00000603300,NM_014080.4;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;	A	ENST00000603300	Transcript	synonymous_variant	1739/6345	1536/4647	512/1548	R	cgG/cgT	rs752704146	1		-1	DUOX2	HGNC	HGNC:13273	protein_coding	YES	CCDS10117.1	ENSP00000475084	Q9NRD8		UPI000013D775	NM_014080.4			13/34		Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,Superfamily_domains:SSF48113																	LOW	1	SNV	1			1										PASS		rs752704146	.												A	2	1	43	45108085	45108085	C	A	1	0	0	0	0	0	0	0	1	4623	610	22	2		2	DUOX2	15	45108085	Silent	SNP	C	C3N-00217_TP	1490391	45108085	56883104	460	12898											
ONECUT1	0	.	GRCh38	chr15	52757816	52757816	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtgtgttgcctctatcCttcccatgttcttgttcttt	2	21	8	10	0	3	0	0	0	3	0	5	0	5	0	3	1	1	3	3	1	1	8	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1137G>C	p.Lys379Asn	p.K379N	ENST00000305901	2/2	108	61	47	130	130	0	strelka-varscan-mutect	ONECUT1,missense_variant,p.Lys379Asn,ENST00000305901,NM_004498.2;ONECUT1,missense_variant,p.Arg20Thr,ENST00000560699,;ONECUT1,non_coding_transcript_exon_variant,,ENST00000561401,;	G	ENST00000305901	Transcript	missense_variant	1265/2092	1137/1398	379/465	K/N	aaG/aaC		1		-1	ONECUT1	HGNC	HGNC:8138	protein_coding	YES	CCDS10150.1	ENSP00000302630	Q9UBC0		UPI000012CA91	NM_004498.2	tolerated(0.05)		2/2		hmmpanther:PTHR14057:SF9,hmmpanther:PTHR14057,Gene3D:1.10.10.60																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	52757816	52757816	C	G	1	0	0	0	0	1	0	0	0	10943	681	24	4		4	ONECUT1	15	52757816	Missense_Mutation	SNP	C	C3N-00217_TP	7649731	52757816	49233373	461	12899											
PRTG	0	.	GRCh38	chr15	55740610	55740610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagcctggcaatctaaaaCgactgggtcctttcttgtga	9	12	11	9	1	2	2	0	2	2	0	3	3	3	2	2	2	2	1	2	2	3	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.169G>A	p.Val57Ile	p.V57I	ENST00000389286	2/20	195	163	32	245	245	0	strelka-varscan-mutect	PRTG,missense_variant,p.Val57Ile,ENST00000389286,NM_173814.5;PRTG,missense_variant,p.Val57Ile,ENST00000561292,;PRTG,5_prime_UTR_variant,,ENST00000558349,;PRTG,upstream_gene_variant,,ENST00000623053,;	T	ENST00000389286	Transcript	missense_variant	217/11967	169/3453	57/1150	V/I	Gtt/Att		1		-1	PRTG	HGNC	HGNC:26373	protein_coding	YES	CCDS42040.1	ENSP00000373937	Q2VWP7		UPI00001555A7	NM_173814.5	tolerated(0.31)		2/20		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF661,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1445356691	.												T	3	4	43	55740610	55740610	C	T	1	0	0	0	0	1	0	0	0	12788	536	19	1		1	PRTG	15	55740610	Missense_Mutation	SNP	C	C3N-00217_TP	2982794	55740610	46250579	462	12900											
NEDD4	0	.	GRCh38	chr15	55834053	55834053	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaccttccaaaaccactgTataacctgatgatttgcact	13	13	4	11	0	0	2	0	2	0	0	1	2	1	2	4	0	4	2	4	0	5	5	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.3672A>G	p.Ile1224Met	p.I1224M	ENST00000508342	22/25	72	59	13	100	100	0	strelka-varscan-mutect	NEDD4,missense_variant,p.Ile1224Met,ENST00000508342,NM_001284338.1;NEDD4,missense_variant,p.Ile1152Met,ENST00000338963,NM_198400.3;NEDD4,missense_variant,p.Ile1208Met,ENST00000506154,NM_001284339.1;NEDD4,missense_variant,p.Ile805Met,ENST00000435532,NM_006154.3;NEDD4,missense_variant,p.Ile815Met,ENST00000508871,NM_001284340.1;NEDD4,3_prime_UTR_variant,,ENST00000503468,;	C	ENST00000508342	Transcript	missense_variant	3972/7235	3672/3960	1224/1319	I/M	atA/atG		1		-1	NEDD4	HGNC	HGNC:7727	protein_coding	YES	CCDS61644.1	ENSP00000424827	P46934		UPI00001FE52D	NM_001284338.1	deleterious(0.01)		22/25		PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF282,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	55834053	55834053	T	C	1	0	0	0	0	1	0	0	0	10338	1628	57	5		5	NEDD4	15	55834053	Missense_Mutation	SNP	T	C3N-00217_TP	93443	55834053	46157136	463	12901											
USP3	0	.	GRCh38	chr15	63537128	63537128	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagttcagcacacagtatgtAtggattgcagtagctacagt	13	11	10	7	0	1	0	1	0	0	0	1	1	1	1	0	1	4	7	0	1	5	6	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.256A>T	p.Met86Leu	p.M86L	ENST00000380324	3/15	97	75	22	150	150	0	strelka-varscan-mutect	USP3,missense_variant,p.Met64Leu,ENST00000268049,;USP3,missense_variant,p.Met86Leu,ENST00000380324,NM_006537.3;USP3,missense_variant,p.Met69Leu,ENST00000558285,;USP3,missense_variant,p.Met64Leu,ENST00000559771,;USP3,missense_variant,p.Met117Leu,ENST00000561442,;USP3,intron_variant,,ENST00000540797,NM_001256702.1;USP3,intron_variant,,ENST00000560070,;USP3,downstream_gene_variant,,ENST00000559276,;USP3,intron_variant,,ENST00000561326,;USP3,missense_variant,p.Met9Leu,ENST00000559257,;USP3,3_prime_UTR_variant,,ENST00000559192,;USP3,3_prime_UTR_variant,,ENST00000558157,;USP3,3_prime_UTR_variant,,ENST00000557884,;USP3,intron_variant,,ENST00000559873,;USP3,upstream_gene_variant,,ENST00000538686,;	T	ENST00000380324	Transcript	missense_variant	385/2333	256/1563	86/520	M/L	Atg/Ttg		1		1	USP3	HGNC	HGNC:12626	protein_coding	YES	CCDS32265.1	ENSP00000369681	Q9Y6I4		UPI0000071F2D	NM_006537.3	tolerated(0.23)		3/15		PROSITE_profiles:PS50271,Gene3D:3.30.40.10,Pfam_domain:PF02148,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	63537128	63537128	A	T	1	0	0	0	0	1	0	0	0	17602	449	16	4		4	USP3	15	63537128	Missense_Mutation	SNP	A	C3N-00217_TP	7703075	63537128	38454061	464	12902											
IGDCC3	0	.	GRCh38	chr15	65334842	65334842	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccacgaggatggctggctCcttgtaggccccagagcccg	6	6	13	16	2	0	1	0	0	0	1	1	3	1	2	6	4	1	3	6	4	1	2	rs770319633		C3N-00217_TP	C3N-00217_NB	C	C																c.709G>T	p.Glu237Ter	p.E237*	ENST00000327987	5/14	94	54	40	103	103	0	strelka-varscan-mutect	IGDCC3,stop_gained,p.Glu237Ter,ENST00000327987,NM_004884.3;IGDCC3,stop_gained,p.Glu100Ter,ENST00000558354,;IGDCC3,stop_gained,p.Glu114Ter,ENST00000559058,;IGDCC3,upstream_gene_variant,,ENST00000559231,;	A	ENST00000327987	Transcript	stop_gained	961/4479	709/2445	237/814	E/*	Gag/Tag	rs770319633	1		-1	IGDCC3	HGNC	HGNC:9700	protein_coding	YES	CCDS10205.1	ENSP00000332773	Q8IVU1		UPI000019908F	NM_004884.3			5/14		Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF106																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	43	65334842	65334842	C	A	1	0	0	0	0	0	1	0	0	7474	864	30	2		2	IGDCC3	15	65334842	Nonsense_Mutation	SNP	C	C3N-00217_TP	1797714	65334842	36656347	465	12903											
IGDCC4	0	.	GRCh38	chr15	65392212	65392212	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaagcctggtctccacggcCccctggcaggcgatcgccat	6	6	11	18	3	1	0	0	0	1	0	3	1	1	0	6	4	1	1	6	4	1	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2044G>T	p.Gly682Cys	p.G682C	ENST00000352385	11/20	115	67	48	68	68	0	strelka-varscan-mutect	IGDCC4,missense_variant,p.Gly682Cys,ENST00000352385,NM_020962.2;IGDCC4,non_coding_transcript_exon_variant,,ENST00000559327,;	A	ENST00000352385	Transcript	missense_variant	2254/6508	2044/3753	682/1250	G/C	Ggc/Tgc		1		-1	IGDCC4	HGNC	HGNC:13770	protein_coding	YES	CCDS10206.1	ENSP00000319623	Q8TDY8		UPI000006F31C	NM_020962.2	deleterious(0)		11/20		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF40,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	65392212	65392212	C	A	1	0	0	0	0	1	0	0	0	7475	623	22	2		2	IGDCC4	15	65392212	Missense_Mutation	SNP	C	C3N-00217_TP	57370	65392212	36598977	466	12904											
NOX5	0	.	GRCh38	chr15	69033172	69033172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctatgcaggcctccacgtGctgctcttcgggctggcggc	4	9	13	15	3	1	0	0	0	1	0	3	0	2	0	3	4	3	4	3	4	1	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.750G>A	p.=	p.V250V	ENST00000388866	5/16	176	139	37	140	140	0	strelka-varscan-mutect	NOX5,synonymous_variant,p.=,ENST00000260364,;NOX5,synonymous_variant,p.=,ENST00000388866,NM_024505.3;NOX5,synonymous_variant,p.=,ENST00000448182,;NOX5,synonymous_variant,p.=,ENST00000530406,NM_001184779.1;NOX5,synonymous_variant,p.=,ENST00000455873,NM_001184780.1;RP11-809H16.4,downstream_gene_variant,,ENST00000559495,;NOX5,synonymous_variant,p.=,ENST00000525143,;NOX5,non_coding_transcript_exon_variant,,ENST00000527315,;RP11-809H16.2,downstream_gene_variant,,ENST00000557966,;	A	ENST00000388866	Transcript	synonymous_variant	791/2804	750/2298	250/765	V	gtG/gtA		1		1	NOX5	HGNC	HGNC:14874	protein_coding	YES	CCDS32276.2	ENSP00000373518	Q96PH1		UPI000006DDBD	NM_024505.3			5/16		hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF58,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	43	69033172	69033172	G	A	1	0	0	0	0	0	0	0	1	10605	1306	46	3		3	NOX5	15	69033172	Silent	SNP	G	C3N-00217_TP	3640960	69033172	32958017	467	12905											
NEO1	0	.	GRCh38	chr15	73270024	73270024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagacacttctgaagttGatttatttgttattaatgct	10	18	7	6	0	2	3	1	2	1	1	2	3	2	3	0	0	1	4	0	0	4	7			C3N-00217_TP	C3N-00217_NB	G	G																c.2509G>T	p.Asp837Tyr	p.D837Y	ENST00000339362	18/30	161	140	21	166	166	0	varscan-mutect	NEO1,missense_variant,p.Asp837Tyr,ENST00000339362,;NEO1,missense_variant,p.Asp837Tyr,ENST00000261908,NM_002499.3;NEO1,missense_variant,p.Asp837Tyr,ENST00000558964,NM_001172624.1;NEO1,missense_variant,p.Asp837Tyr,ENST00000560262,NM_001172623.1;NEO1,intron_variant,,ENST00000560328,;	T	ENST00000339362	Transcript	missense_variant	2956/7342	2509/4386	837/1461	D/Y	Gat/Tat	COSM434251	1		1	NEO1	HGNC	HGNC:7754	protein_coding	YES	CCDS10247.1	ENSP00000341198	Q92859		UPI000013D221		deleterious(0)		18/30													1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	43	73270024	73270024	G	T	1	0	0	0	0	1	0	0	0	10370	1290	45	2		2	NEO1	15	73270024	Missense_Mutation	SNP	G	C3N-00217_TP	4236852	73270024	28721165	468	12906											
NEO1	0	.	GRCh38	chr15	73302646	73302646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgagctgaccaaagagatgGcccacctggaaggactaatg	14	6	12	9	0	0	3	0	2	0	1	0	6	0	5	3	3	1	1	3	3	3	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.4336G>T	p.Ala1446Ser	p.A1446S	ENST00000339362	30/30	153	91	62	225	225	0	strelka-varscan-mutect	NEO1,missense_variant,p.Ala1446Ser,ENST00000339362,;NEO1,missense_variant,p.Ala1446Ser,ENST00000261908,NM_002499.3;NEO1,missense_variant,p.Ala1115Ser,ENST00000560328,;NEO1,missense_variant,p.Ala1435Ser,ENST00000558964,NM_001172624.1;NEO1,missense_variant,p.Ala1393Ser,ENST00000560262,NM_001172623.1;NEO1,non_coding_transcript_exon_variant,,ENST00000560808,;NEO1,downstream_gene_variant,,ENST00000558886,;	T	ENST00000339362	Transcript	missense_variant	4783/7342	4336/4386	1446/1461	A/S	Gcc/Tcc		1		1	NEO1	HGNC	HGNC:7754	protein_coding	YES	CCDS10247.1	ENSP00000341198	Q92859		UPI000013D221		deleterious(0)		30/30		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF55,Pfam_domain:PF06583																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	73302646	73302646	G	T	1	0	0	0	0	1	0	0	0	10370	1203	42	2		2	NEO1	15	73302646	Missense_Mutation	SNP	G	C3N-00217_TP	32622	73302646	28688543	469	12907											
ISLR2	0	.	GRCh38	chr15	74134282	74134282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccgctggctgcgcgctggGgccctgggcccggcggggct	0	6	19	16	5	0	0	0	0	0	0	1	0	1	0	3	7	1	4	3	7	0	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1528G>T	p.Gly510Cys	p.G510C	ENST00000361742	4/4	90	70	20	100	100	0	strelka-varscan-mutect	ISLR2,missense_variant,p.Gly510Cys,ENST00000361742,NM_001130136.1;ISLR2,missense_variant,p.Gly510Cys,ENST00000435464,NM_001130138.1;ISLR2,missense_variant,p.Gly510Cys,ENST00000565159,NM_001130137.1;ISLR2,missense_variant,p.Gly510Cys,ENST00000453268,NM_020851.2;ISLR2,missense_variant,p.Gly510Cys,ENST00000565540,;ISLR2,intron_variant,,ENST00000419208,;ISLR2,downstream_gene_variant,,ENST00000569886,;ISLR2,downstream_gene_variant,,ENST00000561740,;ISLR2,downstream_gene_variant,,ENST00000567206,;ISLR2,downstream_gene_variant,,ENST00000565332,;ISLR2,intron_variant,,ENST00000561975,;ISLR2,downstream_gene_variant,,ENST00000565068,;	T	ENST00000361742	Transcript	missense_variant	2297/4817	1528/2238	510/745	G/C	Ggc/Tgc		1		1	ISLR2	HGNC	HGNC:29286	protein_coding	YES	CCDS10259.1	ENSP00000355402	Q6UXK2		UPI000004C60F	NM_001130136.1	deleterious(0.01)		4/4		hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF15,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1260108878	.												T	3	4	43	74134282	74134282	G	T	1	0	0	0	0	1	0	0	0	7766	1232	43	2		2	ISLR2	15	74134282	Missense_Mutation	SNP	G	C3N-00217_TP	831636	74134282	27856907	470	12908											
ISLR	0	.	GRCh38	chr15	74175703	74175703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcattgtggagatcaccaGccccaacgtgggcactgatg	9	8	13	11	1	1	2	1	1	0	1	1	3	1	2	3	3	2	2	3	3	1	1	rs762884175		C3N-00217_TP	C3N-00217_NB	G	G																c.845G>A	p.Ser282Asn	p.S282N	ENST00000249842	2/2	111	94	17	98	98	0	strelka-varscan-mutect	ISLR,missense_variant,p.Ser282Asn,ENST00000249842,NM_005545.3;ISLR,missense_variant,p.Ser282Asn,ENST00000395118,NM_201526.1;STRA6,downstream_gene_variant,,ENST00000323940,NM_001142617.1;STRA6,downstream_gene_variant,,ENST00000616000,NM_001142618.1;STRA6,downstream_gene_variant,,ENST00000395105,NM_022369.3;STRA6,downstream_gene_variant,,ENST00000423167,NM_001142619.1;STRA6,downstream_gene_variant,,ENST00000416286,;STRA6,downstream_gene_variant,,ENST00000449139,;STRA6,downstream_gene_variant,,ENST00000535552,NM_001199040.1;STRA6,downstream_gene_variant,,ENST00000563965,NM_001199042.1;STRA6,downstream_gene_variant,,ENST00000574278,NM_001199041.1;STRA6,downstream_gene_variant,,ENST00000572785,;ISLR,downstream_gene_variant,,ENST00000560862,;ISLR,downstream_gene_variant,,ENST00000559510,;RP11-665J16.1,intron_variant,,ENST00000561647,;STRA6,downstream_gene_variant,,ENST00000574439,;STRA6,downstream_gene_variant,,ENST00000545137,;	A	ENST00000249842	Transcript	missense_variant	1202/2371	845/1287	282/428	S/N	aGc/aAc	rs762884175,COSM1210942	1		1	ISLR	HGNC	HGNC:6133	protein_coding	YES	CCDS10260.1	ENSP00000249842	O14498	A0A146E5L3	UPI0000049E09	NM_005545.3	tolerated(0.49)		2/2		PROSITE_profiles:PS50835,hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF14,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs762884175	.												A	3	1	43	74175703	74175703	G	A	1	0	0	0	0	1	0	0	0	7765	971	34	3		3	ISLR	15	74175703	Missense_Mutation	SNP	G	C3N-00217_TP	41421	74175703	27815486	471	12909											
SIN3A	0	.	GRCh38	chr15	75412951	75412951	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtttgcacctcaattttgtAgccagggggcaagaaggtgt	9	11	14	7	0	1	1	1	0	0	1	1	1	1	1	2	4	2	4	2	4	4	4	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.568T>A	p.Tyr190Asn	p.Y190N	ENST00000394947	5/21	173	133	40	185	185	0	strelka-varscan-mutect	SIN3A,missense_variant,p.Tyr190Asn,ENST00000394947,NM_001145358.1;SIN3A,missense_variant,p.Tyr190Asn,ENST00000360439,NM_001145357.1;SIN3A,missense_variant,p.Tyr190Asn,ENST00000394949,NM_015477.2;SIN3A,downstream_gene_variant,,ENST00000564778,;SIN3A,downstream_gene_variant,,ENST00000562776,;SIN3A,downstream_gene_variant,,ENST00000568431,;CTD-2562G15.2,upstream_gene_variant,,ENST00000569073,;	T	ENST00000394947	Transcript	missense_variant	883/6737	568/3822	190/1273	Y/N	Tac/Aac		1		-1	SIN3A	HGNC	HGNC:19353	protein_coding	YES	CCDS10279.1	ENSP00000378402	Q96ST3		UPI000013EAD4	NM_001145358.1	deleterious(0)		5/21		hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	75412951	75412951	A	T	1	0	0	0	0	1	0	0	0	14589	420	15	4		4	SIN3A	15	75412951	Missense_Mutation	SNP	A	C3N-00217_TP	1237248	75412951	26578238	472	12910											
ACSBG1	0	.	GRCh38	chr15	78174437	78174437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctggtccccaatgagcatgGcgttgctgatgatgggcagc	7	10	14	10	1	1	3	0	3	1	0	2	3	2	3	2	3	3	4	2	3	1	1	rs776603338		C3N-00217_TP	C3N-00217_NB	G	G																c.1790C>A	p.Ala597Asp	p.A597D	ENST00000258873	12/14	254	194	60	252	252	0	strelka-varscan-mutect	ACSBG1,missense_variant,p.Ala597Asp,ENST00000258873,NM_001199377.1,NM_015162.4;ACSBG1,missense_variant,p.Ala355Asp,ENST00000560817,;IDH3A,downstream_gene_variant,,ENST00000299518,NM_005530.2;IDH3A,downstream_gene_variant,,ENST00000558554,;IDH3A,downstream_gene_variant,,ENST00000558535,;ACSBG1,3_prime_UTR_variant,,ENST00000560124,;ACSBG1,non_coding_transcript_exon_variant,,ENST00000560183,;IDH3A,downstream_gene_variant,,ENST00000559889,;IDH3A,downstream_gene_variant,,ENST00000558602,;IDH3A,downstream_gene_variant,,ENST00000560667,;ACSBG1,downstream_gene_variant,,ENST00000559707,;ACSBG1,downstream_gene_variant,,ENST00000558301,;IDH3A,downstream_gene_variant,,ENST00000557960,;	T	ENST00000258873	Transcript	missense_variant	1996/6357	1790/2175	597/724	A/D	gCc/gAc	rs776603338,COSM4757910	1		-1	ACSBG1	HGNC	HGNC:29567	protein_coding	YES	CCDS10298.1	ENSP00000258873	Q96GR2		UPI000006E955	NM_001199377.1,NM_015162.4	deleterious(0)		12/14		hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF184,Superfamily_domains:SSF56801											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs776603338	.												T	3	4	43	78174437	78174437	G	T	1	0	0	0	0	1	0	0	0	215	1203	42	2		2	ACSBG1	15	78174437	Missense_Mutation	SNP	G	C3N-00217_TP	2761486	78174437	23816752	473	12911											
ANPEP	0	.	GRCh38	chr15	89804261	89804261	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgggggtctacctggtgggCcagctcatgagcaatcacag	9	8	14	10	0	3	1	2	1	1	0	3	1	3	1	2	4	3	2	2	4	2	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1171G>T	p.Ala391Ser	p.A391S	ENST00000300060	6/21	108	89	19	120	120	0	strelka-varscan-mutect	ANPEP,missense_variant,p.Ala391Ser,ENST00000300060,NM_001150.2;ANPEP,downstream_gene_variant,,ENST00000559874,;ANPEP,downstream_gene_variant,,ENST00000560137,;ANPEP,upstream_gene_variant,,ENST00000558177,;ANPEP,non_coding_transcript_exon_variant,,ENST00000559887,;ANPEP,upstream_gene_variant,,ENST00000560030,;ANPEP,downstream_gene_variant,,ENST00000560028,;ANPEP,upstream_gene_variant,,ENST00000559761,;	A	ENST00000300060	Transcript	missense_variant	1485/3678	1171/2904	391/967	A/S	Gcc/Tcc		1		-1	ANPEP	HGNC	HGNC:500	protein_coding	YES	CCDS10356.1	ENSP00000300060	P15144	A0A024RC61	UPI00001AECCF	NM_001150.2	deleterious(0)		6/21		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF172,Pfam_domain:PF01433,Superfamily_domains:SSF55486,Prints_domain:PR00756																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	89804261	89804261	C	A	1	0	0	0	0	1	0	0	0	817	739	26	2		2	ANPEP	15	89804261	Missense_Mutation	SNP	C	C3N-00217_TP	11629824	89804261	12186928	474	12912											
TXNDC11	0	.	GRCh38	chr16	11691912	11691912	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccactggggcagcaccacAgtgttgcagcagggggacgc	8	5	16	12	1	0	0	0	0	0	0	0	1	0	1	2	4	4	5	2	4	0	1	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1359T>A	p.=	p.T453T	ENST00000356957	9/13	125	100	25	93	93	0	strelka-varscan-mutect	TXNDC11,synonymous_variant,p.=,ENST00000356957,NM_001303447.1;TXNDC11,synonymous_variant,p.=,ENST00000283033,NM_015914.6;TXNDC11,downstream_gene_variant,,ENST00000575591,;TXNDC11,upstream_gene_variant,,ENST00000570917,;TXNDC11,non_coding_transcript_exon_variant,,ENST00000572732,;TXNDC11,downstream_gene_variant,,ENST00000576969,;TXNDC11,downstream_gene_variant,,ENST00000571882,;TXNDC11,upstream_gene_variant,,ENST00000575349,;	T	ENST00000356957	Transcript	synonymous_variant	1467/3178	1359/2958	453/985	T	acT/acA		1		-1	TXNDC11	HGNC	HGNC:28030	protein_coding	YES	CCDS76822.1	ENSP00000349439	Q6PKC3		UPI000041D75B	NM_001303447.1			9/13																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	11691912	11691912	A	T	1	0	0	0	0	0	0	0	1	17308	175	7	4		4	TXNDC11	16	11691912	Silent	SNP	A	C3N-00217_TP		11691912	78646433	475	12913											
PARN	0	.	GRCh38	chr16	14446943	14446943	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggcctttttccttccCtctgagaggggctctgcaca	4	15	9	13	0	3	1	0	1	3	1	5	2	5	1	3	3	1	2	3	3	0	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1809G>T	p.Glu603Asp	p.E603D	ENST00000437198	23/24	209	156	53	152	152	0	strelka-varscan-mutect	PARN,missense_variant,p.Glu603Asp,ENST00000437198,NM_002582.3;PARN,missense_variant,p.Glu557Asp,ENST00000420015,NM_001242992.1;PARN,missense_variant,p.Glu542Asp,ENST00000341484,NM_001134477.2;PARN,missense_variant,p.Glu428Asp,ENST00000539279,;PARN,downstream_gene_variant,,ENST00000564882,;	A	ENST00000437198	Transcript	missense_variant	1951/3078	1809/1920	603/639	E/D	gaG/gaT		1		-1	PARN	HGNC	HGNC:8609	protein_coding	YES	CCDS45419.1	ENSP00000387911	O95453		UPI0000031F7A	NM_002582.3	tolerated_low_confidence(0.23)		23/24																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	14446943	14446943	C	A	1	0	0	0	0	1	0	0	0	11533	680	24	2		2	PARN	16	14446943	Missense_Mutation	SNP	C	C3N-00217_TP	2755031	14446943	75891402	476	12914											
CCP110	0	.	GRCh38	chr16	19537401	19537401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggaaatgaacaatttttgGataacagttttgagaaagtt	15	14	10	2	0	0	2	0	2	0	1	0	5	0	4	0	2	2	2	0	2	5	6			C3N-00217_TP	C3N-00217_NB	G	G																c.1732G>T	p.Asp578Tyr	p.D578Y	ENST00000381396	4/15	128	111	17	141	141	0	strelka-varscan-mutect	CCP110,missense_variant,p.Asp578Tyr,ENST00000396212,NM_001323572.1,NM_001323571.1,NM_014711.4;CCP110,missense_variant,p.Asp578Tyr,ENST00000381396,NM_001323569.1,NM_001199022.1;CCP110,missense_variant,p.Asp578Tyr,ENST00000396208,;CCP110,downstream_gene_variant,,ENST00000561888,;CCP110,intron_variant,,ENST00000562083,;	T	ENST00000381396	Transcript	missense_variant	1979/5446	1732/3039	578/1012	D/Y	Gat/Tat	COSM3506752	1		1	CCP110	HGNC	HGNC:24342	protein_coding	YES	CCDS55992.1	ENSP00000370803	O43303		UPI0000D619A9	NM_001323569.1,NM_001199022.1	deleterious(0.01)		4/15		hmmpanther:PTHR13594											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	43	19537401	19537401	G	T	1	0	0	0	0	1	0	0	0	2637	1174	41	2		2	CCP110	16	19537401	Missense_Mutation	SNP	G	C3N-00217_TP	5090458	19537401	70800944	477	12915											
GPRC5B	0	.	GRCh38	chr16	19872456	19872456	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagagcgcaaagaggacGccccagaggaagcggcggac	14	0	16	11	4	0	3	0	0	0	3	0	6	0	6	2	4	3	2	2	4	3	0	rs771810976		C3N-00217_TP	C3N-00217_NB	G	G																c.390C>G	p.=	p.G130G	ENST00000300571	2/4	187	110	77	162	162	0	strelka-varscan-mutect	GPRC5B,synonymous_variant,p.=,ENST00000300571,NM_016235.2;GPRC5B,synonymous_variant,p.=,ENST00000569479,;GPRC5B,synonymous_variant,p.=,ENST00000569847,;GPRC5B,synonymous_variant,p.=,ENST00000535671,;GPRC5B,synonymous_variant,p.=,ENST00000562469,;GPRC5B,synonymous_variant,p.=,ENST00000566822,;GPRC5B,downstream_gene_variant,,ENST00000564449,;GPRC5B,downstream_gene_variant,,ENST00000568214,;GPRC5B,downstream_gene_variant,,ENST00000570142,;	C	ENST00000300571	Transcript	synonymous_variant	582/5213	390/1212	130/403	G	ggC/ggG	rs771810976	1		-1	GPRC5B	HGNC	HGNC:13308	protein_coding	YES	CCDS10581.1	ENSP00000300571	Q9NZH0	A0A024QYX2	UPI0000032747	NM_016235.2			2/4		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR14511,hmmpanther:PTHR14511:SF9,Pfam_domain:PF00003																	LOW	1	SNV	1			1										PASS		rs771810976	.												C	2	2	43	19872456	19872456	G	C	1	0	0	0	0	0	0	0	1	6604	1074	38	4		4	GPRC5B	16	19872456	Silent	SNP	G	C3N-00217_TP	335055	19872456	70465889	478	12916											
GP2	0	.	GRCh38	chr16	20324114	20324114	+	Silent	SNP	T	T	G																															tcgcacccctgggaccctgcTgagttctctgtgcttcggaa																								rs568443003		C3N-00217_TP	C3N-00217_NB	T	T																c.237A>C	p.=	p.S79S	ENST00000381362	3/12	302	193	109	257	257	0	strelka-varscan-mutect	GP2,synonymous_variant,p.=,ENST00000302555,NM_001502.3;GP2,synonymous_variant,p.=,ENST00000381362,NM_001007240.2;GP2,synonymous_variant,p.=,ENST00000575449,;GP2,5_prime_UTR_variant,,ENST00000572347,;GP2,intron_variant,,ENST00000381360,NM_001007241.2;GP2,intron_variant,,ENST00000341642,NM_001007242.2;GP2,intron_variant,,ENST00000575582,;GP2,intron_variant,,ENST00000572478,;GP2,non_coding_transcript_exon_variant,,ENST00000575730,;GP2,upstream_gene_variant,,ENST00000573897,;GP2,intron_variant,,ENST00000574982,;	G	ENST00000381362	Transcript	synonymous_variant	314/2425	237/1614	79/537	S	tcA/tcC	rs568443003	1		-1	GP2	HGNC	HGNC:4441	protein_coding	YES	CCDS42128.1	ENSP00000370767	P55259		UPI000059D333	NM_001007240.2			3/12		hmmpanther:PTHR24044:SF284,hmmpanther:PTHR24044																	LOW	1	SNV	1			1										PASS		rs568443003	.												G	2	3	43	20324114	20324114	T	G	1	0	0	0	0	0	0	0	1	6477	1567	55	5		5	GP2	16	20324114	Silent	SNP	T	C3N-00217_TP	451658	20324114	70014231	479	12917	298	2									
GP2	0	.	GRCh38	chr16	20324115	20324115	+	Nonsense_Mutation	SNP	G	G	C																															cgcacccctgggaccctgctGagttctctgtgcttcggaag																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.236C>G	p.Ser79Ter	p.S79*	ENST00000381362	3/12	296	188	108	255	255	0	strelka-varscan-mutect	GP2,stop_gained,p.Ser79Ter,ENST00000302555,NM_001502.3;GP2,stop_gained,p.Ser79Ter,ENST00000381362,NM_001007240.2;GP2,stop_gained,p.Ser79Ter,ENST00000575449,;GP2,5_prime_UTR_variant,,ENST00000572347,;GP2,intron_variant,,ENST00000381360,NM_001007241.2;GP2,intron_variant,,ENST00000341642,NM_001007242.2;GP2,intron_variant,,ENST00000575582,;GP2,intron_variant,,ENST00000572478,;GP2,non_coding_transcript_exon_variant,,ENST00000575730,;GP2,upstream_gene_variant,,ENST00000573897,;GP2,intron_variant,,ENST00000574982,;	C	ENST00000381362	Transcript	stop_gained	313/2425	236/1614	79/537	S/*	tCa/tGa		1		-1	GP2	HGNC	HGNC:4441	protein_coding	YES	CCDS42128.1	ENSP00000370767	P55259		UPI000059D333	NM_001007240.2			3/12		hmmpanther:PTHR24044:SF284,hmmpanther:PTHR24044																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	43	20324115	20324115	G	C	1	0	0	0	0	0	1	0	0	6477	1294	45	4		4	GP2	16	20324115	Nonsense_Mutation	SNP	G	C3N-00217_TP	1	20324115	70014230	480	12918	298	2									
ACSM2B	0	.	GRCh38	chr16	20552160	20552160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacctttagaataaccagtGggtcaaactttggcaagaga	14	11	9	7	0	1	2	1	0	0	2	1	3	1	2	2	2	3	1	2	2	6	5	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.878C>A	p.Pro293Gln	p.P293Q	ENST00000329697	6/14	83	51	32	71	71	0	strelka-varscan-mutect	ACSM2B,missense_variant,p.Pro293Gln,ENST00000329697,NM_001105069.1;ACSM2B,missense_variant,p.Pro293Gln,ENST00000414188,;ACSM2B,missense_variant,p.Pro293Gln,ENST00000565232,;ACSM2B,missense_variant,p.Pro293Gln,ENST00000567001,NM_182617.3;ACSM2B,missense_variant,p.Pro214Gln,ENST00000565322,;ACSM2B,missense_variant,p.Pro62Gln,ENST00000567288,;ACSM2B,missense_variant,p.Pro103Gln,ENST00000569163,;ACSM2B,downstream_gene_variant,,ENST00000568882,;ACSM2B,3_prime_UTR_variant,,ENST00000569327,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569364,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000563943,;ACSM2B,upstream_gene_variant,,ENST00000569131,;ACSM2B,upstream_gene_variant,,ENST00000566998,;	T	ENST00000329697	Transcript	missense_variant	1047/2935	878/1734	293/577	P/Q	cCa/cAa		1		-1	ACSM2B	HGNC	HGNC:30931	protein_coding	YES	CCDS10586.1	ENSP00000327453	Q68CK6		UPI00001AFAA7	NM_001105069.1	deleterious(0)		6/14		Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF188,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	20552160	20552160	G	T	1	0	0	0	0	1	0	0	0	226	1348	47	2		2	ACSM2B	16	20552160	Missense_Mutation	SNP	G	C3N-00217_TP	228045	20552160	69786185	481	12919											
DNAH3	0	.	GRCh38	chr16	20982872	20982872	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggttcctgaaggcatcccCtattggactcatggctaatg	8	11	11	11	1	1	1	1	1	0	0	3	2	3	2	3	4	0	3	3	4	3	4	rs769980991		C3N-00217_TP	C3N-00217_NB	C	C																c.7708G>T	p.Gly2570Trp	p.G2570W	ENST00000261383	49/62	178	122	56	130	130	0	strelka-varscan-mutect	DNAH3,missense_variant,p.Gly2570Trp,ENST00000261383,NM_017539.2;	A	ENST00000261383	Transcript	missense_variant	7708/12394	7708/12351	2570/4116	G/W	Ggg/Tgg	rs769980991	1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2	deleterious(0)		49/62		hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF12780,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs769980991	.												A	3	1	43	20982872	20982872	C	A	1	0	0	0	0	1	0	0	0	4418	681	24	2		2	DNAH3	16	20982872	Missense_Mutation	SNP	C	C3N-00217_TP	430712	20982872	69355473	482	12920											
NPIPB5	0	.	GRCh38	chr16	22534355	22534355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacacctgctgagcgtctgCgggggccgcttccaccctca	6	7	12	16	3	2	2	1	1	1	1	3	2	3	2	4	2	3	2	4	2	0	1	rs199969935		C3N-00217_TP	C3N-00217_NB	C	C																c.1372C>T	p.Arg458Trp	p.R458W	ENST00000424340	7/7	48	40	8	38	38	0	varscan-mutect	NPIPB5,missense_variant,p.Arg458Trp,ENST00000424340,NM_001135865.1;NPIPB5,missense_variant,p.Arg458Trp,ENST00000451409,;NPIPB5,missense_variant,p.Arg458Trp,ENST00000517539,;NPIPB5,missense_variant,p.Arg458Trp,ENST00000415833,;NPIPB5,missense_variant,p.Arg458Trp,ENST00000528249,;NPIPB5,missense_variant,p.Arg242Trp,ENST00000357370,;NPIPB5,downstream_gene_variant,,ENST00000621622,;NPIPB5,non_coding_transcript_exon_variant,,ENST00000415654,;NPIPB5,3_prime_UTR_variant,,ENST00000521555,;NPIPB5,downstream_gene_variant,,ENST00000541664,;NPIPB5,downstream_gene_variant,,ENST00000442450,;NPIPB5,downstream_gene_variant,,ENST00000539604,;NPIPB5,downstream_gene_variant,,ENST00000543997,;RP11-368J21.4,downstream_gene_variant,,ENST00000610646,;	T	ENST00000424340	Transcript	missense_variant	1651/3801	1372/3402	458/1133	R/W	Cgg/Tgg	rs199969935,COSM3278874,COSM3278875	1		1	NPIPB5	HGNC	HGNC:37233	protein_coding	YES	CCDS45443.1	ENSP00000440703	A8MRT5		UPI000181EF82	NM_001135865.1	tolerated_low_confidence(0.17)		7/7		hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF0											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs199969935	.												T	3	4	43	22534355	22534355	C	T	1	0	0	0	0	1	0	0	0	10639	759	27	1		1	NPIPB5	16	22534355	Missense_Mutation	SNP	C	C3N-00217_TP	1551483	22534355	67803990	483	12921											
ATXN2L	0	.	GRCh38	chr16	28834086	28834086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaatccaccagtaccccaActtctccggggccccggact	10	7	7	17	2	1	0	0	0	1	0	3	1	2	1	7	3	2	1	7	3	4	3	rs571133202		C3N-00217_TP	C3N-00217_NB	A	A																c.2047A>G	p.Thr683Ala	p.T683A	ENST00000395547	16/24	215	184	31	136	136	0	strelka-mutect	ATXN2L,missense_variant,p.Thr683Ala,ENST00000336783,NM_007245.3;ATXN2L,missense_variant,p.Thr683Ala,ENST00000395547,NM_148414.2;ATXN2L,missense_variant,p.Thr683Ala,ENST00000340394,NM_148415.2;ATXN2L,missense_variant,p.Thr683Ala,ENST00000325215,NM_145714.2;ATXN2L,missense_variant,p.Thr683Ala,ENST00000382686,NM_148416.2;ATXN2L,missense_variant,p.Thr683Ala,ENST00000570200,NM_017492.3;ATXN2L,missense_variant,p.Thr689Ala,ENST00000564304,NM_001308230.1;ATXN2L,missense_variant,p.Thr8Ala,ENST00000566946,;ATXN2L,downstream_gene_variant,,ENST00000568266,;ATXN2L,upstream_gene_variant,,ENST00000564162,;ATXN2L,upstream_gene_variant,,ENST00000569318,;ATXN2L,upstream_gene_variant,,ENST00000567024,;ATXN2L,upstream_gene_variant,,ENST00000566007,;RP11-24N18.1,intron_variant,,ENST00000563565,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000565845,;ATXN2L,downstream_gene_variant,,ENST00000570284,;ATXN2L,missense_variant,p.Thr8Ala,ENST00000562583,;ATXN2L,3_prime_UTR_variant,,ENST00000565971,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000563314,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000564035,;ATXN2L,upstream_gene_variant,,ENST00000561732,;ATXN2L,downstream_gene_variant,,ENST00000564284,;ATXN2L,upstream_gene_variant,,ENST00000562686,;	G	ENST00000395547	Transcript	missense_variant	2214/3981	2047/3294	683/1097	T/A	Act/Gct	rs571133202,COSM5252706,COSM5252707,COSM557514,COSM557515	1		1	ATXN2L	HGNC	HGNC:31326	protein_coding	YES	CCDS10640.1	ENSP00000378917	Q8WWM7		UPI000016783F	NM_148414.2	tolerated(0.05)		16/24		Low_complexity_(Seg):seg,hmmpanther:PTHR12854:SF8,hmmpanther:PTHR12854											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs571133202	.												G	3	3	43	28834086	28834086	A	G	1	0	0	0	0	1	0	0	0	1366	43	2	5		5	ATXN2L	16	28834086	Missense_Mutation	SNP	A	C3N-00217_TP	6299731	28834086	61504259	484	12922											
CDIPT	0	.	GRCh38	chr16	29860596	29860596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaccctcgaggtgtagtaGatccgaagcaccggattccc	9	9	10	13	3	0	1	0	0	0	1	3	4	2	2	4	2	2	3	4	2	4	4	rs762669095		C3N-00217_TP	C3N-00217_NB	G	G																c.399C>G	p.Ile133Met	p.I133M	ENST00000219789	4/6	197	178	19	121	121	0	strelka-varscan-mutect	CDIPT,missense_variant,p.Ile133Met,ENST00000219789,NM_006319.4;CDIPT,missense_variant,p.Ile157Met,ENST00000561555,NM_001286586.1;CDIPT,missense_variant,p.Ile88Met,ENST00000566113,NM_001286585.1;CDIPT,missense_variant,p.Ile133Met,ENST00000569956,;CDIPT,missense_variant,p.Ile133Met,ENST00000570016,;CDIPT,missense_variant,p.Ile133Met,ENST00000563415,;CTD-2574D22.7,upstream_gene_variant,,ENST00000611923,;CDIPT-AS1,upstream_gene_variant,,ENST00000398859,;CDIPT-AS1,upstream_gene_variant,,ENST00000565014,;CDIPT,upstream_gene_variant,,ENST00000567459,;CDIPT,3_prime_UTR_variant,,ENST00000564296,;CDIPT,non_coding_transcript_exon_variant,,ENST00000563893,;CDIPT,non_coding_transcript_exon_variant,,ENST00000562041,;CDIPT-AS1,upstream_gene_variant,,ENST00000638164,;	C	ENST00000219789	Transcript	missense_variant	1278/2353	399/642	133/213	I/M	atC/atG	rs762669095	1		-1	CDIPT	HGNC	HGNC:1769	protein_coding	YES	CCDS10657.1	ENSP00000219789	O14735	A8K3L7	UPI0000131B1C	NM_006319.4	deleterious(0.02)		4/6		PIRSF_domain:PIRSF000848,hmmpanther:PTHR15362,hmmpanther:PTHR15362:SF4																	MODERATE	1	SNV	1			1										PASS		rs762669095	.												C	3	2	43	29860596	29860596	G	C	1	0	0	0	0	1	0	0	0	2827	932	33	4		4	CDIPT	16	29860596	Missense_Mutation	SNP	G	C3N-00217_TP	1026510	29860596	60477749	485	12923											
MAPK3	0	.	GRCh38	chr16	30121897	30121897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacattctcatggcggaagcGcagcaggatctggatctccc	9	8	12	12	2	3	0	1	0	3	0	5	4	3	3	1	4	2	2	1	4	1	1			C3N-00217_TP	C3N-00217_NB	G	G																c.280C>T	p.Arg94Cys	p.R94C	ENST00000263025	2/9	385	363	22	280	279	1	strelka-varscan-mutect	MAPK3,missense_variant,p.Arg94Cys,ENST00000263025,NM_002746.2;MAPK3,missense_variant,p.Arg94Cys,ENST00000322266,NM_001109891.1;MAPK3,missense_variant,p.Arg94Cys,ENST00000395199,NM_001040056.2;MAPK3,missense_variant,p.Arg94Cys,ENST00000395202,;MAPK3,missense_variant,p.Arg65Cys,ENST00000395200,;MAPK3,5_prime_UTR_variant,,ENST00000484663,;MAPK3,5_prime_UTR_variant,,ENST00000478356,;MAPK3,5_prime_UTR_variant,,ENST00000481230,;MAPK3,missense_variant,p.Arg94Cys,ENST00000466521,;MAPK3,missense_variant,p.Arg94Cys,ENST00000490298,;MAPK3,non_coding_transcript_exon_variant,,ENST00000483869,;MAPK3,upstream_gene_variant,,ENST00000461737,;MAPK3,upstream_gene_variant,,ENST00000473431,;	A	ENST00000263025	Transcript	missense_variant	365/1861	280/1140	94/379	R/C	Cgc/Tgc	COSM471620,COSM4857281,COSM4857282	1		-1	MAPK3	HGNC	HGNC:6877	protein_coding	YES	CCDS10672.1	ENSP00000263025	P27361	L7RXH5	UPI0000000DD7	NM_002746.2	deleterious(0.01)		2/9		PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF203,PROSITE_patterns:PS01351,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	43	30121897	30121897	G	A	1	0	0	0	0	1	0	0	0	9203	1087	38	1		1	MAPK3	16	30121897	Missense_Mutation	SNP	G	C3N-00217_TP	261301	30121897	60216448	486	12924											
ITGAM	0	.	GRCh38	chr16	31326890	31326890	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgtttgatgtagactctaAggcttcccttggaaacaaac	12	11	8	10	1	1	2	0	1	1	1	2	3	2	3	1	2	2	3	1	2	4	5	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.2666A>T	p.Lys889Met	p.K889M	ENST00000544665	22/30	240	189	51	160	160	0	strelka-varscan-mutect	ITGAM,missense_variant,p.Lys889Met,ENST00000544665,NM_001145808.1;ITGAM,missense_variant,p.Lys888Met,ENST00000287497,NM_000632.3;ITGAM,upstream_gene_variant,,ENST00000565142,;ITGAM,downstream_gene_variant,,ENST00000567031,;ITGAM,non_coding_transcript_exon_variant,,ENST00000561838,;ITGAM,upstream_gene_variant,,ENST00000569746,;ITGAM,upstream_gene_variant,,ENST00000567178,;	T	ENST00000544665	Transcript	missense_variant	2737/4718	2666/3462	889/1153	K/M	aAg/aTg		1		1	ITGAM	HGNC	HGNC:6149	protein_coding	YES	CCDS54004.1	ENSP00000441691	P11215		UPI000004B26A	NM_001145808.1	deleterious(0.04)		22/30		Gene3D:2.60.40.1510,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	31326890	31326890	A	T	1	0	0	0	0	1	0	0	0	7794	72	3	4		4	ITGAM	16	31326890	Missense_Mutation	SNP	A	C3N-00217_TP	1204993	31326890	59011455	487	12925											
NETO2	0	.	GRCh38	chr16	47083501	47083501	+	Frame_Shift_Del	DEL	C	C	-																															agtggtggtcgtggatgcagCgggaggcggtggaggagcgc																								novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1298delG	p.Arg433ProfsTer39	p.R433Pfs*39	ENST00000562435	9/9	240	171	69	231	231	0	sindel-varindel-pindel	NETO2,frameshift_variant,p.Arg433ProfsTer39,ENST00000562435,NM_018092.4;NETO2,frameshift_variant,p.Arg426ProfsTer39,ENST00000303155,NM_001201477.1;NETO2,frameshift_variant,p.Arg273ProfsTer39,ENST00000562559,;NETO2,frameshift_variant,p.Arg136ProfsTer39,ENST00000564667,;NETO2,downstream_gene_variant,,ENST00000563078,;	-	ENST00000562435	Transcript	frameshift_variant	1683/7481	1298/1578	433/525	R/X	cGc/cc		1		-1	NETO2	HGNC	HGNC:14644	protein_coding	YES	CCDS10727.1	ENSP00000455169	Q8NC67		UPI000003C718	NM_018092.4			9/9		hmmpanther:PTHR10127:SF314,hmmpanther:PTHR10127																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	43	47083501	47083501	C	-	1	0	1	0	1	0	0	0	0	10375	768	27	0		0	NETO2	16	47083501	Frame_Shift_Del	DEL	C	C3N-00217_TP	15756611	47083501	43254844	488	12926											
ZNF423	0	.	GRCh38	chr16	49637850	49637850	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctgctggggcttgtcCgcgtggatggtcttcaggtg	2	13	17	9	2	3	0	1	0	2	0	4	1	4	1	1	6	1	3	1	6	0	2	rs16947743		C3N-00217_TP	C3N-00217_NB	C	C																c.1302G>T	p.=	p.A434A	ENST00000561648	5/9	324	152	172	198	198	0	strelka-varscan-mutect	ZNF423,synonymous_variant,p.=,ENST00000561648,;ZNF423,synonymous_variant,p.=,ENST00000563137,;ZNF423,synonymous_variant,p.=,ENST00000262383,NM_015069.3;ZNF423,synonymous_variant,p.=,ENST00000562871,;ZNF423,synonymous_variant,p.=,ENST00000535559,;ZNF423,synonymous_variant,p.=,ENST00000562520,NM_001271620.1;ZNF423,synonymous_variant,p.=,ENST00000567169,;	A	ENST00000561648	Transcript	synonymous_variant	1603/7907	1302/3855	434/1284	A	gcG/gcT	rs16947743,COSM3771954,COSM3771955	1		-1	ZNF423	HGNC	HGNC:16762	protein_coding	YES	CCDS32445.1	ENSP00000455426	Q2M1K9		UPI0000353ABC				5/9		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF210											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs16947743	.												A	2	1	43	49637850	49637850	C	A	1	0	0	0	0	0	0	0	1	18470	639	23	1		1	ZNF423	16	49637850	Silent	SNP	C	C3N-00217_TP	2554349	49637850	40700495	489	12927											
OGFOD1	0	.	GRCh38	chr16	56475565	56475565	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaggtgaagatgaagaGgtaagtttcttctgatagca	14	10	12	5	0	2	5	0	3	2	2	2	5	2	5	1	2	1	3	1	2	5	4	rs768611899		C3N-00217_TP	C3N-00217_NB	G	G																c.1467G>C	p.Glu489Asp	p.E489D	ENST00000566157	12/13	254	189	65	252	252	0	strelka-varscan-mutect	OGFOD1,missense_variant,p.Glu489Asp,ENST00000566157,NM_018233.3;OGFOD1,missense_variant,p.Glu446Asp,ENST00000568397,;BBS2,intron_variant,,ENST00000564459,;BBS2,intron_variant,,ENST00000564123,;OGFOD1,splice_region_variant,,ENST00000336111,;	C	ENST00000566157	Transcript	missense_variant,splice_region_variant	1590/4647	1467/1629	489/542	E/D	gaG/gaC	rs768611899	1		1	OGFOD1	HGNC	HGNC:25585	protein_coding	YES	CCDS10761.2	ENSP00000457258	Q8N543		UPI0000049DA2	NM_018233.3	deleterious(0.01)		12/13		hmmpanther:PTHR12117,Pfam_domain:PF10637																	MODERATE	1	SNV	1			1										PASS		rs768611899	.												C	3	2	43	56475565	56475565	G	C	1	0	0	0	0	1	0	0	0	10915	1014	35	4		4	OGFOD1	16	56475565	Missense_Mutation	SNP	G	C3N-00217_TP	6837715	56475565	33862780	490	12928											
MT2A	0	.	GRCh38	chr16	56609049	56609049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagtgcaaatgcacctcctGcaagaaaagtaagtgggatc	15	7	11	8	0	0	2	0	0	0	2	2	3	1	3	2	1	3	4	2	1	5	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.86G>T	p.Cys29Phe	p.C29F	ENST00000245185	2/3	375	245	130	278	278	0	strelka-varscan-mutect	MT2A,missense_variant,p.Cys29Phe,ENST00000245185,NM_005953.3;MT2A,missense_variant,p.Cys29Phe,ENST00000561491,;RP11-249C24.10,downstream_gene_variant,,ENST00000569778,;MT2A,non_coding_transcript_exon_variant,,ENST00000563985,;MT2A,non_coding_transcript_exon_variant,,ENST00000567300,;MT2A,non_coding_transcript_exon_variant,,ENST00000562017,;	T	ENST00000245185	Transcript	missense_variant	543/786	86/186	29/61	C/F	tGc/tTc		1		1	MT2A	HGNC	HGNC:7406	protein_coding	YES	CCDS10763.1	ENSP00000245185	P02795		UPI000012F71A	NM_005953.3	deleterious(0.04)		2/3		Gene3D:4mt2A00,Pfam_domain:PF00131,Prints_domain:PR00860,PROSITE_patterns:PS00203,hmmpanther:PTHR23299,Low_complexity_(Seg):seg,Superfamily_domains:SSF57868																	MODERATE	1	SNV	1			1										PASS		rs1339841313	.												T	3	4	43	56609049	56609049	G	T	1	0	0	0	0	1	0	0	0	9890	1319	46	2		2	MT2A	16	56609049	Missense_Mutation	SNP	G	C3N-00217_TP	133484	56609049	33729296	491	12929											
CDH5	0	.	GRCh38	chr16	66402995	66402995	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacggccccccctacgacacGctgcacatctacggctacga	9	5	9	18	5	1	0	0	0	1	0	1	3	1	0	3	2	4	3	3	2	3	3	rs746556861		C3N-00217_TP	C3N-00217_NB	G	G																c.2181G>T	p.=	p.T727T	ENST00000341529	12/12	621	307	314	325	325	0	strelka-varscan-mutect	CDH5,synonymous_variant,p.=,ENST00000341529,NM_001795.3;CDH5,synonymous_variant,p.=,ENST00000614547,;CDH5,synonymous_variant,p.=,ENST00000539168,;CDH5,3_prime_UTR_variant,,ENST00000565334,;	T	ENST00000341529	Transcript	synonymous_variant	2329/4120	2181/2355	727/784	T	acG/acT	rs746556861,COSM558524	1		1	CDH5	HGNC	HGNC:1764	protein_coding	YES	CCDS10804.1	ENSP00000344115	P33151		UPI000016B272	NM_001795.3			12/12		hmmpanther:PTHR24027:SF89,hmmpanther:PTHR24027,Pfam_domain:PF01049,Gene3D:4.10.900.10											0,1						LOW	1	SNV	1		0,1	1										PASS		rs746556861	.												T	2	4	43	66402995	66402995	G	T	1	0	0	0	0	0	0	0	1	2816	1074	38	1		1	CDH5	16	66402995	Silent	SNP	G	C3N-00217_TP	9793946	66402995	23935350	492	12930											
THAP11	0	.	GRCh38	chr16	67842893	67842893	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacagcagcagcagcagcaAcagcagcaacagcagcagca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0			C3N-00217_TP	C3N-00217_NB	A	A																c.339A>G	p.=	p.Q113Q	ENST00000303596	1/1	592	555	37	363	358	5	varscan-mutect	THAP11,synonymous_variant,p.=,ENST00000303596,NM_020457.2;CENPT,intron_variant,,ENST00000562787,NM_025082.3;CENPT,intron_variant,,ENST00000561593,;CENPT,intron_variant,,ENST00000565114,;CENPT,intron_variant,,ENST00000567985,;NUTF2,upstream_gene_variant,,ENST00000219169,NM_005796.1;NUTF2,upstream_gene_variant,,ENST00000568396,;NUTF2,upstream_gene_variant,,ENST00000569436,;NUTF2,upstream_gene_variant,,ENST00000567105,;CENPT,intron_variant,,ENST00000564144,;CENPT,intron_variant,,ENST00000567482,;CENPT,intron_variant,,ENST00000565385,;CENPT,intron_variant,,ENST00000564346,;CENPT,intron_variant,,ENST00000568652,;CENPT,intron_variant,,ENST00000569094,;CENPT,intron_variant,,ENST00000568765,;CENPT,intron_variant,,ENST00000569019,;CENPT,intron_variant,,ENST00000565132,;CENPT,upstream_gene_variant,,ENST00000565436,;NUTF2,upstream_gene_variant,,ENST00000568390,;NUTF2,upstream_gene_variant,,ENST00000568233,;NUTF2,upstream_gene_variant,,ENST00000570026,;	G	ENST00000303596	Transcript	synonymous_variant	812/2114	339/945	113/314	Q	caA/caG	COSM4061991	1		1	THAP11	HGNC	HGNC:23194	protein_coding	YES	CCDS10847.1	ENSP00000304689	Q96EK4		UPI000013E8BD	NM_020457.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR22794,Coiled-coils_(Ncoils):Coil											1						LOW		SNV			1	1										PASS		rs775638390	.												G	2	3	43	67842893	67842893	A	G	1	0	0	0	0	0	0	0	1	16275	40	2	5		5	THAP11	16	67842893	Silent	SNP	A	C3N-00217_TP	1439898	67842893	22495452	493	12931											
COG4	0	.	GRCh38	chr16	70497371	70497371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagctggcccttctcatagGtgtccagagccacagcctac	8	9	9	15	0	2	1	2	0	1	1	4	1	3	1	4	2	4	1	4	2	2	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1331C>T	p.Thr444Ile	p.T444I	ENST00000323786	11/19	624	497	127	396	396	0	strelka-varscan-mutect	COG4,missense_variant,p.Thr444Ile,ENST00000323786,NM_015386.2;COG4,missense_variant,p.Thr444Ile,ENST00000393612,NM_001195139.1;COG4,3_prime_UTR_variant,,ENST00000564415,;COG4,3_prime_UTR_variant,,ENST00000482252,;COG4,non_coding_transcript_exon_variant,,ENST00000530314,;COG4,non_coding_transcript_exon_variant,,ENST00000526700,;COG4,upstream_gene_variant,,ENST00000564315,;COG4,downstream_gene_variant,,ENST00000567244,;	A	ENST00000323786	Transcript	missense_variant	1353/2833	1331/2370	444/789	T/I	aCc/aTc		1		-1	COG4	HGNC	HGNC:18620	protein_coding	YES	CCDS10892.2	ENSP00000315775		J3KNI1	UPI000059D3B0	NM_015386.2	tolerated(0.1)		11/19		hmmpanther:PTHR24016:SF0,hmmpanther:PTHR24016,Pfam_domain:PF08318,SMART_domains:SM00762																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	70497371	70497371	G	A	1	0	0	0	0	1	0	0	0	3448	1261	44	3		3	COG4	16	70497371	Missense_Mutation	SNP	G	C3N-00217_TP	2654478	70497371	19840974	494	12932											
VAC14	0	.	GRCh38	chr16	70762963	70762963	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaatggccgtgtcactgAggtggcagtttaggacctgc	7	10	13	11	1	1	1	1	1	0	0	2	2	2	2	3	4	1	2	3	4	2	2	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1223T>A	p.Leu408His	p.L408H	ENST00000261776	11/19	467	390	77	262	262	0	strelka-varscan-mutect	VAC14,missense_variant,p.Leu408His,ENST00000261776,NM_018052.3;VAC14-AS1,intron_variant,,ENST00000562507,;VAC14-AS1,intron_variant,,ENST00000398177,;VAC14,3_prime_UTR_variant,,ENST00000568548,;VAC14,intron_variant,,ENST00000568886,;VAC14,upstream_gene_variant,,ENST00000563662,;	T	ENST00000261776	Transcript	missense_variant	1484/3099	1223/2349	408/782	L/H	cTc/cAc		1		-1	VAC14	HGNC	HGNC:25507	protein_coding	YES	CCDS10896.1	ENSP00000261776	Q08AM6		UPI00001A832B	NM_018052.3	deleterious(0)		11/19		hmmpanther:PTHR16023,hmmpanther:PTHR16023:SF0,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	70762963	70762963	A	T	1	0	0	0	0	1	0	0	0	17656	304	11	4		4	VAC14	16	70762963	Missense_Mutation	SNP	A	C3N-00217_TP	265592	70762963	19575382	495	12933											
PKD1L3	0	.	GRCh38	chr16	71953076	71953076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccagcagttcagaccaggCcacagcaaatggacgcactg	13	4	11	13	1	1	1	1	0	0	1	1	3	1	2	3	2	2	4	3	2	1	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2827G>T	p.Ala943Ser	p.A943S	ENST00000620267	18/30	101	62	39	85	85	0	strelka-varscan-mutect	PKD1L3,missense_variant,p.Ala943Ser,ENST00000620267,NM_181536.1;	A	ENST00000620267	Transcript	missense_variant	2827/5199	2827/5199	943/1732	A/S	Gcc/Tcc		1		-1	PKD1L3	HGNC	HGNC:21716	protein_coding	YES	CCDS73912.1	ENSP00000480090	Q7Z443		UPI00001A36E5	NM_181536.1	deleterious(0.01)		18/30		Transmembrane_helices:TMhelix,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF136																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	71953076	71953076	C	A	1	0	0	0	0	1	0	0	0	12061	739	26	2		2	PKD1L3	16	71953076	Missense_Mutation	SNP	C	C3N-00217_TP	1190113	71953076	18385269	496	12934											
PKD1L3	0	.	GRCh38	chr16	71954290	71954290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttttccacaatcatggagGaaaacagatgtctgaaaaga	17	9	8	7	0	2	3	1	1	1	2	3	5	3	5	1	2	1	0	1	2	5	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.2624C>A	p.Ser875Tyr	p.S875Y	ENST00000620267	17/30	102	65	37	71	71	0	strelka-varscan-mutect	PKD1L3,missense_variant,p.Ser875Tyr,ENST00000620267,NM_181536.1;	T	ENST00000620267	Transcript	missense_variant	2624/5199	2624/5199	875/1732	S/Y	tCc/tAc		1		-1	PKD1L3	HGNC	HGNC:21716	protein_coding	YES	CCDS73912.1	ENSP00000480090	Q7Z443		UPI00001A36E5	NM_181536.1	tolerated(0.21)		17/30		hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF136																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	71954290	71954290	G	T	1	0	0	0	0	1	0	0	0	12061	1174	41	2		2	PKD1L3	16	71954290	Missense_Mutation	SNP	G	C3N-00217_TP	1214	71954290	18384055	497	12935											
PLCG2	0	.	GRCh38	chr16	81891479	81891479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactcttttagttcctcaCgtacctgttttcacgagaaa	9	16	6	10	2	3	2	2	1	1	1	4	3	4	2	2	0	1	3	2	0	3	7	rs772003833		C3N-00217_TP	C3N-00217_NB	C	C																c.875C>A	p.Thr292Lys	p.T292K	ENST00000564138	11/33	149	93	56	128	128	0	strelka-varscan-mutect	PLCG2,missense_variant,p.Thr292Lys,ENST00000564138,NM_002661.4;PLCG2,missense_variant,p.Thr292Lys,ENST00000359376,;PLCG2,missense_variant,p.Thr62Lys,ENST00000563193,;PLCG2,non_coding_transcript_exon_variant,,ENST00000562605,;PLCG2,non_coding_transcript_exon_variant,,ENST00000567980,;PLCG2,upstream_gene_variant,,ENST00000570198,;PLCG2,upstream_gene_variant,,ENST00000563375,;	A	ENST00000564138	Transcript	missense_variant	1089/8707	875/3798	292/1265	T/K	aCg/aAg	rs772003833	1		1	PLCG2	HGNC	HGNC:9066	protein_coding	YES	CCDS42204.1	ENSP00000482457	P16885		UPI00001411F7	NM_002661.4	tolerated(0.39)		11/33		hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF25,PIRSF_domain:PIRSF000952,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		rs772003833	.												A	3	1	43	81891479	81891479	C	A	1	0	0	0	0	1	0	0	0	12130	536	19	1		1	PLCG2	16	81891479	Missense_Mutation	SNP	C	C3N-00217_TP	9937189	81891479	8446866	498	12936											
IRF8	0	.	GRCh38	chr16	85918723	85918723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgttctgcagcggcaacgCcgtggtgtgcaaaggcaggc	7	7	16	11	4	1	0	0	0	1	0	1	0	1	0	1	4	4	5	1	4	2	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.908C>A	p.Ala303Asp	p.A303D	ENST00000268638	7/9	284	173	111	199	199	0	strelka-varscan-mutect	IRF8,missense_variant,p.Ala303Asp,ENST00000268638,NM_002163.2;IRF8,missense_variant,p.Ala303Asp,ENST00000564803,;IRF8,missense_variant,p.Ala99Asp,ENST00000562492,;IRF8,missense_variant,p.Ala99Asp,ENST00000569607,;IRF8,intron_variant,,ENST00000566369,;IRF8,downstream_gene_variant,,ENST00000569145,;MIR6774,downstream_gene_variant,,ENST00000614651,;	A	ENST00000268638	Transcript	missense_variant	1330/3030	908/1281	303/426	A/D	gCc/gAc		1		1	IRF8	HGNC	HGNC:5358	protein_coding	YES	CCDS10956.1	ENSP00000268638	Q02556		UPI000012D188	NM_002163.2	tolerated(0.62)		7/9		hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF7,Gene3D:2.60.200.10,Pfam_domain:PF10401,SMART_domains:SM01243,Superfamily_domains:SSF49879																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	85918723	85918723	C	A	1	0	0	0	0	1	0	0	0	7743	739	26	2		2	IRF8	16	85918723	Missense_Mutation	SNP	C	C3N-00217_TP	4027244	85918723	4419622	499	12937											
TP53	0	.	GRCh38	chr17	7675145	7675145	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggccatggcgcggacgCgggtgccgggcgggggtgtg	4	5	23	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	0	2	7	0	0	rs371524413		C3N-00217_TP	C3N-00217_NB	C	C																c.467G>C	p.Arg156Pro	p.R156P	ENST00000269305	5/11	184	87	97	216	216	0	strelka-varscan-mutect	TP53,missense_variant,p.Arg156Pro,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Arg156Pro,ENST00000420246,;TP53,missense_variant,p.Arg117Pro,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Arg117Pro,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg156Pro,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Arg117Pro,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Arg156Pro,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Arg117Pro,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Arg156Pro,ENST00000445888,;TP53,missense_variant,p.Arg117Pro,ENST00000619485,;TP53,missense_variant,p.Arg24Pro,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Arg24Pro,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Arg24Pro,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Arg156Pro,ENST00000359597,;TP53,missense_variant,p.Arg145Pro,ENST00000615910,;TP53,missense_variant,p.Arg156Pro,ENST00000413465,;TP53,missense_variant,p.Arg24Pro,ENST00000509690,;TP53,missense_variant,p.Arg156Pro,ENST00000508793,;TP53,missense_variant,p.Arg63Pro,ENST00000514944,;TP53,5_prime_UTR_variant,,ENST00000618944,NM_001276698.1;TP53,5_prime_UTR_variant,,ENST00000610623,NM_001276699.1;TP53,5_prime_UTR_variant,,ENST00000619186,NM_001276697.1;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Arg117Pro,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	G	ENST00000269305	Transcript	missense_variant	657/2579	467/1182	156/393	R/P	cGc/cCc	rs371524413,CM984589,TP53_g.12455G>A,TP53_g.12455del,TP53_g.12455G>C,TP53_g.12455G>T,COSM10760,COSM1522489,COSM1522490,COSM1522491,COSM1522492,COSM2744905,COSM3712457,COSM3970367,COSM3970368,COSM3970369,COSM3970370,COSM3970371,COSM3970372,COSM43548,COSM43739,COSM45530	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	tolerated(0.22)		5/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417											0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs371524413	.												G	3	3	43	7675145	7675145	C	G	1	0	0	0	0	1	0	0	0	16859	768	27	4		4	TP53	17	7675145	Missense_Mutation	SNP	C	C3N-00217_TP		7675145	75582296	500	12938											
ALOXE3	0	.	GRCh38	chr17	8112110	8112110	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgtcgtgaaggtcttaTggcaccagaagatgttctgc	9	12	11	9	1	2	3	0	1	2	2	3	3	2	3	1	2	1	2	1	2	3	3	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.1163A>T	p.His388Leu	p.H388L	ENST00000318227	7/16	236	135	101	330	330	0	strelka-varscan-mutect	ALOXE3,missense_variant,p.His412Leu,ENST00000380149,;ALOXE3,missense_variant,p.His256Leu,ENST00000448843,NM_021628.2;ALOXE3,missense_variant,p.His388Leu,ENST00000318227,NM_001165960.1;	A	ENST00000318227	Transcript	missense_variant	1432/3053	1163/2532	388/843	H/L	cAt/cTt		1		-1	ALOXE3	HGNC	HGNC:13743	protein_coding	YES	CCDS54084.1	ENSP00000314879	Q9BYJ1		UPI0000EE63AA	NM_001165960.1	tolerated(0.22)		7/16		PROSITE_profiles:PS51393,hmmpanther:PTHR11771,hmmpanther:PTHR11771:SF62,Superfamily_domains:SSF48484																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	43	8112110	8112110	T	A	1	0	0	0	0	1	0	0	0	642	1464	51	4		4	ALOXE3	17	8112110	Missense_Mutation	SNP	T	C3N-00217_TP	436965	8112110	75145331	501	12939											
MYH13	0	.	GRCh38	chr17	10333122	10333122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctggggaatcccttcctgCaaatccggatgccctcgagg	7	8	13	13	2	0	0	0	0	0	0	4	3	3	2	4	5	2	2	4	5	2	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2126G>A	p.Cys709Tyr	p.C709Y	ENST00000418404	18/41	108	67	41	109	109	0	strelka-varscan-mutect	MYH13,missense_variant,p.Cys709Tyr,ENST00000418404,;MYH13,missense_variant,p.Cys709Tyr,ENST00000252172,NM_003802.2;MYH13,missense_variant,p.Cys709Tyr,ENST00000621918,;RP11-401O9.3,intron_variant,,ENST00000577743,;	T	ENST00000418404	Transcript	missense_variant	2290/6296	2126/5817	709/1938	C/Y	tGc/tAc		1		-1	MYH13	HGNC	HGNC:7571	protein_coding	YES	CCDS45613.1	ENSP00000404570	Q9UKX3		UPI0000DB39EA		deleterious(0.03)		18/41		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF504,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE		SNV	5			1										PASS		rs931730352	.												T	3	4	43	10333122	10333122	C	T	1	0	0	0	0	1	0	0	0	10032	710	25	3		3	MYH13	17	10333122	Missense_Mutation	SNP	C	C3N-00217_TP	2221012	10333122	72924319	502	12940											
MYH1	0	.	GRCh38	chr17	10516592	10516592	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctccctttcagactttcgGaggaaaggagcagcctcccc	8	8	10	15	2	1	1	1	0	0	1	4	4	3	4	4	3	2	2	4	3	1	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.51C>A	p.=	p.L17L	ENST00000226207	3/40	201	124	77	276	275	1	strelka-varscan-mutect	MYH1,synonymous_variant,p.=,ENST00000226207,NM_005963.3;MYH2,downstream_gene_variant,,ENST00000245503,NM_017534.5;MYH2,downstream_gene_variant,,ENST00000397183,NM_001100112.1;MYH2,downstream_gene_variant,,ENST00000532183,;MYH2,downstream_gene_variant,,ENST00000622564,;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000226207	Transcript	synonymous_variant	146/6024	51/5820	17/1939	L	ctC/ctA		1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3			3/40																			LOW		SNV	5			1										PASS		rs1351101332	.												T	2	4	43	10516592	10516592	G	T	1	0	0	0	0	0	0	0	1	10029	1161	41	2		2	MYH1	17	10516592	Silent	SNP	G	C3N-00217_TP	183470	10516592	72740849	503	12941											
MYH3	0	.	GRCh38	chr17	10631822	10631822	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcccctcacctgggtatgCagcagctgcaccctctcgtt	5	10	8	18	1	2	0	1	0	1	0	4	0	3	0	5	1	4	6	5	1	1	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.5151G>T	p.=	p.L1717L	ENST00000583535	35/41	346	200	146	492	492	0	strelka-varscan-mutect	MYH3,synonymous_variant,p.=,ENST00000583535,NM_002470.3;MYH3,upstream_gene_variant,,ENST00000577963,;MYH3,upstream_gene_variant,,ENST00000579928,;	A	ENST00000583535	Transcript	synonymous_variant	5239/6037	5151/5823	1717/1940	L	ctG/ctT		1		-1	MYH3	HGNC	HGNC:7573	protein_coding	YES	CCDS11157.1	ENSP00000464317	P11055		UPI000013C892	NM_002470.3			35/41		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF427,Pfam_domain:PF01576,Superfamily_domains:SSF57997																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	43	10631822	10631822	C	A	1	0	0	0	0	0	0	0	1	10036	697	25	2		2	MYH3	17	10631822	Silent	SNP	C	C3N-00217_TP	115230	10631822	72625619	504	12942											
NCOR1	0	.	GRCh38	chr17	16153388	16153388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattttatgagcttcttctGcttttttctagagataaaga	12	18	6	5	0	3	3	0	1	3	2	3	4	3	3	0	0	2	2	0	0	5	9	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.740C>T	p.Ala247Val	p.A247V	ENST00000268712	7/46	59	44	15	108	108	0	strelka-varscan-mutect	NCOR1,missense_variant,p.Ala247Val,ENST00000268712,NM_006311.3;NCOR1,missense_variant,p.Ala138Val,ENST00000395857,;NCOR1,missense_variant,p.Ala247Val,ENST00000395851,NM_001190440.1;NCOR1,missense_variant,p.Ala138Val,ENST00000395848,NM_001190438.1;NCOR1,missense_variant,p.Ala247Val,ENST00000436828,;NCOR1,missense_variant,p.Ala247Val,ENST00000411510,;NCOR1,missense_variant,p.Ala247Val,ENST00000582357,;NCOR1,3_prime_UTR_variant,,ENST00000460276,;	A	ENST00000268712	Transcript	missense_variant	998/10720	740/7323	247/2440	A/V	gCa/gTa		1		-1	NCOR1	HGNC	HGNC:7672	protein_coding	YES	CCDS11175.1	ENSP00000268712	O75376	A0A024RD47	UPI000013D7D5	NM_006311.3	deleterious(0)		7/46		hmmpanther:PTHR13992:SF5,hmmpanther:PTHR13992																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	16153388	16153388	G	A	1	0	0	0	0	1	0	0	0	10254	1319	46	3		3	NCOR1	17	16153388	Missense_Mutation	SNP	G	C3N-00217_TP	5521566	16153388	67104053	505	12943											
CCDC144A	0	.	GRCh38	chr17	16732601	16732601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaggatgccagaatattaCaagatcagattctgacgagt	16	9	9	7	1	2	4	1	1	1	3	2	6	2	5	1	1	3	0	1	1	5	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2353C>G	p.Gln785Glu	p.Q785E	ENST00000360524	11/18	77	50	27	165	165	0	strelka-varscan-mutect	CCDC144A,missense_variant,p.Gln785Glu,ENST00000399273,;CCDC144A,missense_variant,p.Gln785Glu,ENST00000360524,NM_014695.2;CCDC144A,downstream_gene_variant,,ENST00000456009,;RP11-219A15.1,missense_variant,p.Gln785Glu,ENST00000448331,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000470068,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000328495,;CCDC144A,intron_variant,,ENST00000360495,;CCDC144A,downstream_gene_variant,,ENST00000463809,;	G	ENST00000360524	Transcript	missense_variant	2429/5830	2353/4284	785/1427	Q/E	Caa/Gaa		1		1	CCDC144A	HGNC	HGNC:29072	protein_coding	YES	CCDS45621.1	ENSP00000353717	A2RUR9		UPI0000F095D0	NM_014695.2	deleterious(0)		11/18																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	16732601	16732601	C	G	1	0	0	0	0	1	0	0	0	2465	479	17	4		4	CCDC144A	17	16732601	Missense_Mutation	SNP	C	C3N-00217_TP	579213	16732601	66524840	506	12944											
TVP23B	0	.	GRCh38	chr17	18797633	18797633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaatcacattgatgaaGatggaaagagccattgggtg	13	9	15	4	0	1	4	1	2	0	2	1	6	1	6	1	4	1	0	1	4	3	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.295G>T	p.Asp99Tyr	p.D99Y	ENST00000307767	4/7	48	27	21	99	99	0	strelka-varscan-mutect	TVP23B,missense_variant,p.Asp35Tyr,ENST00000476139,NM_001316919.1;TVP23B,missense_variant,p.Asp99Tyr,ENST00000307767,NM_001316921.1,NM_016078.4;TVP23B,missense_variant,p.Asp35Tyr,ENST00000581733,;TVP23B,missense_variant,p.Asp99Tyr,ENST00000574226,;TVP23B,missense_variant,p.Asp35Tyr,ENST00000575261,;TVP23B,3_prime_UTR_variant,,ENST00000574294,;TVP23B,3_prime_UTR_variant,,ENST00000571018,;TVP23B,non_coding_transcript_exon_variant,,ENST00000482741,;TVP23B,non_coding_transcript_exon_variant,,ENST00000572845,;	T	ENST00000307767	Transcript	missense_variant	594/2064	295/618	99/205	D/Y	Gat/Tat		1		1	TVP23B	HGNC	HGNC:20399	protein_coding	YES	CCDS42274.1	ENSP00000305654	Q9NYZ1		UPI00000713C4	NM_001316921.1,NM_016078.4	deleterious(0)		4/7		hmmpanther:PTHR13019,hmmpanther:PTHR13019:SF9,Pfam_domain:PF05832																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	18797633	18797633	G	T	1	0	0	0	0	1	0	0	0	17294	942	33	2		2	TVP23B	17	18797633	Missense_Mutation	SNP	G	C3N-00217_TP	2065032	18797633	64459808	507	12945											
SLC5A10	0	.	GRCh38	chr17	19019447	19019447	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatagtggcactcatcggCgtgagtgtggcctggatccc	6	10	14	11	2	2	1	2	1	0	0	4	2	3	2	2	4	0	1	2	4	1	1	rs775065880		C3N-00217_TP	C3N-00217_NB	C	C																c.1314C>G	p.=	p.G438G	ENST00000395647	12/15	86	43	43	93	93	0	strelka-varscan-mutect	SLC5A10,synonymous_variant,p.=,ENST00000317977,NM_001282417.1;SLC5A10,synonymous_variant,p.=,ENST00000395647,NM_152351.4;SLC5A10,synonymous_variant,p.=,ENST00000395645,NM_001042450.2;SLC5A10,synonymous_variant,p.=,ENST00000417251,NM_001270649.1;SLC5A10,synonymous_variant,p.=,ENST00000395643,NM_001270648.1;GRAP,downstream_gene_variant,,ENST00000284154,NM_006613.3;GRAP,downstream_gene_variant,,ENST00000573099,;GRAP,downstream_gene_variant,,ENST00000395635,;SLC5A10,non_coding_transcript_exon_variant,,ENST00000584658,;GRAP,downstream_gene_variant,,ENST00000583020,;	G	ENST00000395647	Transcript	synonymous_variant	1355/2140	1314/1839	438/612	G	ggC/ggG	rs775065880	1		1	SLC5A10	HGNC	HGNC:23155	protein_coding	YES	CCDS11201.2	ENSP00000379008	A0PJK1		UPI00001401D2	NM_152351.4			12/15		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF128,TIGRFAM_domain:TIGR00813,Transmembrane_helices:TMhelix																	LOW		SNV	2			1										PASS		rs775065880	.												G	2	3	43	19019447	19019447	C	G	1	0	0	0	0	0	0	0	1	14945	755	27	4		4	SLC5A10	17	19019447	Silent	SNP	C	C3N-00217_TP	221814	19019447	64237994	508	12946											
KIAA0100	0	.	GRCh38	chr17	28644999	28644999	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaccctcaccggcctagaaAgagggcgctaagcgcaacta	13	4	11	13	3	1	2	1	0	0	2	1	3	1	2	3	2	3	2	3	2	6	3	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.58T>C	p.Phe20Leu	p.F20L	ENST00000528896	1/39	324	202	122	266	266	0	strelka-varscan-mutect	KIAA0100,missense_variant,p.Phe20Leu,ENST00000528896,NM_014680.3;KIAA0100,intron_variant,,ENST00000544884,;KIAA0100,intron_variant,,ENST00000389003,;SDF2,downstream_gene_variant,,ENST00000247020,NM_006923.3;SDF2,downstream_gene_variant,,ENST00000587788,;SDF2,downstream_gene_variant,,ENST00000592250,;SDF2,downstream_gene_variant,,ENST00000585749,;SDF2,downstream_gene_variant,,ENST00000587629,;SDF2,downstream_gene_variant,,ENST00000588472,;SDF2,downstream_gene_variant,,ENST00000587338,;KIAA0100,missense_variant,p.Phe20Leu,ENST00000583403,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000577417,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000580882,;SDF2,downstream_gene_variant,,ENST00000589788,;SDF2,downstream_gene_variant,,ENST00000591903,;KIAA0100,upstream_gene_variant,,ENST00000577580,;KIAA0100,upstream_gene_variant,,ENST00000582901,;KIAA0100,upstream_gene_variant,,ENST00000581267,;KIAA0100,upstream_gene_variant,,ENST00000579253,;	G	ENST00000528896	Transcript	missense_variant	133/7407	58/6708	20/2235	F/L	Ttt/Ctt		1		-1	KIAA0100	HGNC	HGNC:28960	protein_coding	YES	CCDS32595.1	ENSP00000436773	Q14667		UPI00004B4130	NM_014680.3	tolerated(0.72)		1/39		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR15678																	MODERATE	1	SNV	1			1										PASS		rs1474763375	.												G	3	3	43	28644999	28644999	A	G	1	0	0	0	0	1	0	0	0	8074	72	3	5		5	KIAA0100	17	28644999	Missense_Mutation	SNP	A	C3N-00217_TP	9625552	28644999	54612442	509	12947											
CCL23	0	.	GRCh38	chr17	36013299	36013299	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaaacgtcgccccttcttGgtgaggaagctagggaacaa	12	7	12	10	2	1	2	0	1	1	1	2	4	1	4	2	3	3	1	2	3	5	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.312C>A	p.=	p.T104T	ENST00000615050	4/4	133	88	45	118	118	0	strelka-varscan-mutect	CCL23,synonymous_variant,p.=,ENST00000615050,NM_005064.5;CCL23,synonymous_variant,p.=,ENST00000612516,NM_145898.3;RP11-104J23.2,downstream_gene_variant,,ENST00000617747,;RP11-104J23.1,downstream_gene_variant,,ENST00000617328,;RP11-104J23.1,downstream_gene_variant,,ENST00000619334,;CCL23,3_prime_UTR_variant,,ENST00000613876,;	T	ENST00000615050	Transcript	synonymous_variant	383/624	312/414	104/137	T	acC/acA		1		-1	CCL23	HGNC	HGNC:10622	protein_coding	YES	CCDS11305.1	ENSP00000481357	P55773		UPI000002B480	NM_005064.5			4/4		hmmpanther:PTHR12015:SF77,hmmpanther:PTHR12015,PROSITE_patterns:PS00472,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	36013299	36013299	G	T	1	0	0	0	0	0	0	0	1	2593	1335	47	2		2	CCL23	17	36013299	Silent	SNP	G	C3N-00217_TP	7368300	36013299	47244142	510	12948											
CCL23	0	.	GRCh38	chr17	36013745	36013745	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgagcttggcacctacaTgacacccggcttggagcact	8	9	12	12	1	0	2	0	2	0	0	0	3	0	3	2	4	3	4	2	4	1	3	rs778736599		C3N-00217_TP	C3N-00217_NB	T	T																c.301A>T	p.Ile101Phe	p.I101F	ENST00000615050	3/4	114	72	42	73	73	0	strelka-varscan-mutect	CCL23,missense_variant,p.Ile101Phe,ENST00000615050,NM_005064.5;CCL23,missense_variant,p.Ile84Phe,ENST00000612516,NM_145898.3;RP11-104J23.2,downstream_gene_variant,,ENST00000617747,;RP11-104J23.1,downstream_gene_variant,,ENST00000617328,;RP11-104J23.1,downstream_gene_variant,,ENST00000619334,;CCL23,missense_variant,p.Met13Leu,ENST00000613876,;	A	ENST00000615050	Transcript	missense_variant,splice_region_variant	372/624	301/414	101/137	I/F	Atc/Ttc	rs778736599	1		-1	CCL23	HGNC	HGNC:10622	protein_coding	YES	CCDS11305.1	ENSP00000481357	P55773		UPI000002B480	NM_005064.5	deleterious(0)		3/4		hmmpanther:PTHR12015:SF77,hmmpanther:PTHR12015,PROSITE_patterns:PS00472,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117																	MODERATE	1	SNV	1			1										PASS		rs778736599	.												A	3	1	43	36013745	36013745	T	A	1	0	0	0	0	1	0	0	0	2593	1478	51	4		4	CCL23	17	36013745	Missense_Mutation	SNP	T	C3N-00217_TP	446	36013745	47243696	511	12949											
ARHGAP23	0	.	GRCh38	chr17	38510943	38510943	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccagcccccgcgccgctcgGccgcctcccgcctgcatcag	3	4	11	23	6	1	0	1	0	0	0	3	0	2	0	8	1	2	2	8	1	0	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.4447G>T	p.Ala1483Ser	p.A1483S	ENST00000622683	24/24	145	101	44	110	110	0	strelka-varscan-mutect	ARHGAP23,missense_variant,p.Ala1483Ser,ENST00000622683,NM_001199417.1;ARHGAP23,downstream_gene_variant,,ENST00000620417,;ARHGAP23,downstream_gene_variant,,ENST00000620329,;ARHGAP23,downstream_gene_variant,,ENST00000618325,;	T	ENST00000622683	Transcript	missense_variant	4515/5964	4447/4476	1483/1491	A/S	Gcc/Tcc		1		1	ARHGAP23	HGNC	HGNC:29293	protein_coding	YES	CCDS56027.1	ENSP00000481862	Q9P227		UPI0000F3BE51	NM_001199417.1	tolerated_low_confidence(0.09)		24/24		hmmpanther:PTHR23175:SF5,hmmpanther:PTHR23175																	MODERATE	1	SNV	5			1										PASS		rs1427166342	.												T	3	4	43	38510943	38510943	G	T	1	0	0	0	0	1	0	0	0	997	1203	42	2		2	ARHGAP23	17	38510943	Missense_Mutation	SNP	G	C3N-00217_TP	2497198	38510943	44746498	512	12950											
MLLT6	0	.	GRCh38	chr17	38717544	38717544	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagggacctcggccctGccccgcctcagccgctcccc	3	4	9	25	3	1	0	1	0	0	0	3	1	2	1	10	2	2	1	10	2	0	0	rs765344795		C3N-00217_TP	C3N-00217_NB	G	G																c.1764G>T	p.=	p.L588L	ENST00000621332	11/20	155	119	36	84	84	0	strelka-varscan-mutect	MLLT6,synonymous_variant,p.=,ENST00000621332,NM_005937.3;MLLT6,synonymous_variant,p.=,ENST00000615858,;MLLT6,downstream_gene_variant,,ENST00000620609,;MIR4726,upstream_gene_variant,,ENST00000615971,;CTB-58E17.9,intron_variant,,ENST00000620144,;MLLT6,non_coding_transcript_exon_variant,,ENST00000612066,;MLLT6,upstream_gene_variant,,ENST00000619356,;MLLT6,downstream_gene_variant,,ENST00000620482,;MLLT6,downstream_gene_variant,,ENST00000618652,;	T	ENST00000621332	Transcript	synonymous_variant	1855/7578	1764/3282	588/1093	L	ctG/ctT	rs765344795	1		1	MLLT6	HGNC	HGNC:7138	protein_coding	YES	CCDS11327.1	ENSP00000479910		A0A087WW39	UPI00004B412B	NM_005937.3			11/20		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF90,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs765344795	.												T	2	4	43	38717544	38717544	G	T	1	0	0	0	0	0	0	0	1	9593	1306	46	2		2	MLLT6	17	38717544	Silent	SNP	G	C3N-00217_TP	206601	38717544	44539897	513	12951											
GJD3	0	.	GRCh38	chr17	40363410	40363410	+	Missense_Mutation	SNP	A	A	T																															cagcgccacgctcagcaggtAgcagcggcgcgcgcggcggg																								novel		C3N-00217_TP	C3N-00217_NB	A	A																c.406T>A	p.Tyr136Asn	p.Y136N	ENST00000578689	1/1	66	44	22	33	33	0	strelka-varscan-mutect	GJD3,missense_variant,p.Tyr136Asn,ENST00000578689,NM_152219.3;CTD-2267D19.3,non_coding_transcript_exon_variant,,ENST00000578774,;CTD-2267D19.4,upstream_gene_variant,,ENST00000583752,;	T	ENST00000578689	Transcript	missense_variant	406/885	406/885	136/294	Y/N	Tac/Aac		1		-1	GJD3	HGNC	HGNC:19147	protein_coding	YES	CCDS58547.1	ENSP00000463752	Q8N144		UPI0000072C0F	NM_152219.3	deleterious(0)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11984:SF5,hmmpanther:PTHR11984,Pfam_domain:PF00029,Gene3D:2zw3A00,Prints_domain:PR00206																	MODERATE		SNV				1										PASS		.	.												T	3	4	43	40363410	40363410	A	T	1	0	0	0	0	1	0	0	0	6295	420	15	4		4	GJD3	17	40363410	Missense_Mutation	SNP	A	C3N-00217_TP	1645866	40363410	42894031	514	12952	299	2									
GJD3	0	.	GRCh38	chr17	40363411	40363411	+	Nonsense_Mutation	SNP	G	G	T																															agcgccacgctcagcaggtaGcagcggcgcgcgcggcgggc																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.405C>A	p.Cys135Ter	p.C135*	ENST00000578689	1/1	66	44	22	34	34	0	strelka-varscan-mutect	GJD3,stop_gained,p.Cys135Ter,ENST00000578689,NM_152219.3;CTD-2267D19.3,non_coding_transcript_exon_variant,,ENST00000578774,;CTD-2267D19.4,upstream_gene_variant,,ENST00000583752,;	T	ENST00000578689	Transcript	stop_gained	405/885	405/885	135/294	C/*	tgC/tgA		1		-1	GJD3	HGNC	HGNC:19147	protein_coding	YES	CCDS58547.1	ENSP00000463752	Q8N144		UPI0000072C0F	NM_152219.3			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11984:SF5,hmmpanther:PTHR11984,Pfam_domain:PF00029,Gene3D:2zw3A00,Prints_domain:PR00206																	HIGH		SNV				1										PASS		.	.												T	4	4	43	40363411	40363411	G	T	1	0	0	0	0	0	1	0	0	6295	963	34	2		2	GJD3	17	40363411	Nonsense_Mutation	SNP	G	C3N-00217_TP	1	40363411	42894030	515	12953	299	2									
KRTAP2-4	0	.	GRCh38	chr17	41065553	41065553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacagacacaggctggcagCaggtggtggcccagcagcag	10	3	16	12	0	0	1	0	0	0	1	0	1	0	1	1	5	3	6	1	5	0	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.293G>T	p.Cys98Phe	p.C98F	ENST00000394015	1/1	53	48	5	79	79	0	varscan-mutect	KRTAP2-4,missense_variant,p.Cys98Phe,ENST00000394015,NM_033184.3;	A	ENST00000394015	Transcript	missense_variant	327/764	293/387	98/128	C/F	tGc/tTc		1		-1	KRTAP2-4	HGNC	HGNC:18891	protein_coding	YES	CCDS32648.1	ENSP00000377583	Q9BYR9		UPI000006EB3A	NM_033184.3	deleterious(0)		1/1		hmmpanther:PTHR23262:SF6,hmmpanther:PTHR23262,Pfam_domain:PF13885																	MODERATE	1	SNV				1										PASS		rs1468860840	.												A	3	1	43	41065553	41065553	C	A	1	0	0	0	0	1	0	0	0	8422	710	25	2		2	KRTAP2-4	17	41065553	Missense_Mutation	SNP	C	C3N-00217_TP	702142	41065553	42191888	516	12954											
KRTAP4-9	0	.	GRCh38	chr17	41105981	41105981	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaacctgtgtcatctccaGctgcccccgccccttgtgct	4	10	7	20	1	2	0	1	0	1	0	3	0	2	0	7	0	4	2	7	0	1	1	rs772283009		C3N-00217_TP	C3N-00217_NB	G	G																c.593G>C	p.Ser198Thr	p.S198T	ENST00000391415	1/1	170	161	9	150	149	1	varscan-mutect	KRTAP4-9,missense_variant,p.Ser198Thr,ENST00000391415,NM_001146041.1;KRTAP4-7,missense_variant,p.Ser193Thr,ENST00000612231,;KRTAP4-9,missense_variant,p.Ser173Thr,ENST00000617453,;KRTAP4-16,upstream_gene_variant,,ENST00000440582,;	C	ENST00000391415	Transcript	missense_variant	650/1157	593/633	198/210	S/T	aGc/aCc	rs772283009,COSM1293668,COSM1293669	1		1	KRTAP4-9	HGNC	HGNC:18910	protein_coding	YES	CCDS54124.1	ENSP00000375234	Q9BYQ8		UPI000021D2D3	NM_001146041.1	tolerated(1)		1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF1											0,1,1						MODERATE	1	SNV			0,1,1	1										PASS		rs772283009	.												C	3	2	43	41105981	41105981	G	C	1	0	0	0	0	1	0	0	0	8452	971	34	4		4	KRTAP4-9	17	41105981	Missense_Mutation	SNP	G	C3N-00217_TP	40428	41105981	42151460	517	12955											
WNK4	0	.	GRCh38	chr17	42796258	42796258	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagccgccagcgccgcctCtccaagggcagcttccccac	6	5	9	21	3	1	0	0	0	1	0	4	0	3	0	8	1	3	2	8	1	1	1	rs769688931		C3N-00217_TP	C3N-00217_NB	C	C																c.3567C>A	p.=	p.L1189L	ENST00000246914	17/19	138	99	39	121	121	0	strelka-varscan-mutect	WNK4,synonymous_variant,p.=,ENST00000246914,NM_032387.4;CNTD1,upstream_gene_variant,,ENST00000588408,NM_173478.2;CNTD1,upstream_gene_variant,,ENST00000588527,;COA3,downstream_gene_variant,,ENST00000328434,NM_001040431.2;CNTD1,upstream_gene_variant,,ENST00000585355,;WNK4,downstream_gene_variant,,ENST00000587745,;CNTD1,upstream_gene_variant,,ENST00000591559,;WNK4,3_prime_UTR_variant,,ENST00000591448,NM_001321299.1;COA3,intron_variant,,ENST00000586680,;WNK4,downstream_gene_variant,,ENST00000592072,;CNTD1,upstream_gene_variant,,ENST00000592166,;	A	ENST00000246914	Transcript	synonymous_variant	3588/4001	3567/3732	1189/1243	L	ctC/ctA	rs769688931	1		1	WNK4	HGNC	HGNC:14544	protein_coding	YES	CCDS11439.1	ENSP00000246914	Q96J92		UPI000006FC0F	NM_032387.4			17/19		hmmpanther:PTHR13902:SF52,hmmpanther:PTHR13902																	LOW	1	SNV	1			1										PASS		rs769688931	.												A	2	1	43	42796258	42796258	C	A	1	0	0	0	0	0	0	0	1	17936	900	32	2		2	WNK4	17	42796258	Silent	SNP	C	C3N-00217_TP	1690277	42796258	40461183	518	12956											
FAM171A2	0	.	GRCh38	chr17	44360074	44360074	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaacacatccactgaGgcccgggccaggggcaccag	10	4	11	16	1	0	1	0	1	0	0	2	1	2	1	5	4	1	1	5	4	1	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.177C>A	p.=	p.A59A	ENST00000293443	2/8	202	141	61	172	171	1	strelka-varscan-mutect	FAM171A2,synonymous_variant,p.=,ENST00000293443,NM_198475.2;FAM171A2,synonymous_variant,p.=,ENST00000589407,;FAM171A2,synonymous_variant,p.=,ENST00000588067,;FAM171A2,non_coding_transcript_exon_variant,,ENST00000592560,;RPL7L1P5,downstream_gene_variant,,ENST00000590816,;	T	ENST00000293443	Transcript	synonymous_variant	338/3160	177/2481	59/826	A	gcC/gcA		1		-1	FAM171A2	HGNC	HGNC:30480	protein_coding	YES	CCDS45701.1	ENSP00000293443	A8MVW0		UPI0000E59FC0	NM_198475.2			2/8		Pfam_domain:PF10577,hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF3																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	44360074	44360074	G	T	1	0	0	0	0	0	0	0	1	5338	987	35	2		2	FAM171A2	17	44360074	Silent	SNP	G	C3N-00217_TP	1563816	44360074	38897367	519	12957											
CCDC103	0	.	GRCh38	chr17	44901142	44901142	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttcctatgaggagttcagGttggctcactgccatttttc	6	15	10	10	0	2	1	2	1	0	0	4	2	3	2	2	3	1	4	2	3	1	6	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.143+1G>T		p.X48_splice	ENST00000412523		313	227	86	262	262	0	strelka-varscan-mutect	FAM187A,splice_donor_variant,,ENST00000331733,;CCDC103,splice_donor_variant,,ENST00000417826,;FAM187A,splice_donor_variant,,ENST00000412523,NM_001258399.1,NM_001258396.1,NM_213607.2,NM_001258395.1;CCDC103,splice_donor_variant,,ENST00000410006,;CCDC103,splice_donor_variant,,ENST00000357776,NM_001258398.1;CCDC103,splice_donor_variant,,ENST00000577339,;CCDC103,splice_donor_variant,,ENST00000410027,NM_001258397.1;EFTUD2,upstream_gene_variant,,ENST00000426333,NM_004247.3;EFTUD2,upstream_gene_variant,,ENST00000591382,NM_001258353.1;EFTUD2,upstream_gene_variant,,ENST00000592576,NM_001258354.1;GFAP,downstream_gene_variant,,ENST00000253408,NM_002055.4;EFTUD2,upstream_gene_variant,,ENST00000402521,NM_001142605.1;EFTUD2,upstream_gene_variant,,ENST00000592701,;EFTUD2,upstream_gene_variant,,ENST00000593072,;AC015936.3,downstream_gene_variant,,ENST00000441312,;GFAP,downstream_gene_variant,,ENST00000592065,;EFTUD2,upstream_gene_variant,,ENST00000589825,;EFTUD2,upstream_gene_variant,,ENST00000592408,;EFTUD2,upstream_gene_variant,,ENST00000590105,;	T	ENST00000412523	Transcript	splice_donor_variant	-/1748	143/729	48/242				1		1	FAM187A	HGNC	HGNC:35153	protein_coding	YES	CCDS11490.1	ENSP00000391869			UPI0000074564	NM_001258399.1,NM_001258396.1,NM_213607.2,NM_001258395.1				2/3																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	43	44901142	44901142	G	T	1	0	0	0	0	0	0	1	0	2436	1275	44	2		2	CCDC103	17	44901142	Splice_Site	SNP	G	C3N-00217_TP	541068	44901142	38356299	520	12958											
GOSR2	0	.	GRCh38	chr17	46923217	46923217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccctgttccagcaaacgCacaagtgagggccggtcggg	9	6	13	13	3	0	1	0	1	0	0	3	1	2	1	4	3	2	3	4	3	2	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.25C>A	p.His9Asn	p.H9N	ENST00000225567	1/7	275	254	21	185	184	1	strelka-varscan-mutect	GOSR2,missense_variant,p.His9Asn,ENST00000415811,NM_001012511.1;GOSR2,missense_variant,p.His9Asn,ENST00000576910,;GOSR2,missense_variant,p.His9Asn,ENST00000225567,NM_054022.2;GOSR2,missense_variant,p.His9Asn,ENST00000393456,NM_004287.3;GOSR2,missense_variant,p.His9Asn,ENST00000575949,;GOSR2,missense_variant,p.His8Asn,ENST00000570879,;GOSR2,5_prime_UTR_variant,,ENST00000572403,;RP11-63A1.1,upstream_gene_variant,,ENST00000572349,;RNU6ATAC3P,downstream_gene_variant,,ENST00000387974,;RP11-156P1.2,missense_variant,p.His9Asn,ENST00000571841,;GOSR2,non_coding_transcript_exon_variant,,ENST00000571048,;GOSR2,non_coding_transcript_exon_variant,,ENST00000571658,;	A	ENST00000225567	Transcript	missense_variant	56/855	25/642	9/213	H/N	Cac/Aac		1		1	GOSR2	HGNC	HGNC:4431	protein_coding	YES	CCDS11507.1	ENSP00000225567	O14653		UPI000002AACF	NM_054022.2	tolerated(1)		1/7		PIRSF_domain:PIRSF028865,hmmpanther:PTHR21230,hmmpanther:PTHR21230:SF1,Superfamily_domains:SSF47661																	MODERATE	1	SNV	1			1										PASS		rs1345998860	.												A	3	1	43	46923217	46923217	C	A	1	0	0	0	0	1	0	0	0	6472	724	25	2		2	GOSR2	17	46923217	Missense_Mutation	SNP	C	C3N-00217_TP	2022075	46923217	36334224	521	12959											
HOXB13	0	.	GRCh38	chr17	48728196	48728196	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggctggtaggttcccggaTatcccggatagaaggcaaac	11	8	13	9	2	0	1	0	0	0	1	2	3	2	3	2	6	1	4	2	6	6	5	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.398A>T	p.Tyr133Phe	p.Y133F	ENST00000290295	1/2	490	403	87	405	404	1	strelka-varscan-mutect	HOXB13,missense_variant,p.Tyr133Phe,ENST00000290295,NM_006361.5;PRAC2,downstream_gene_variant,,ENST00000422730,NM_001282275.1;PRAC2,downstream_gene_variant,,ENST00000432056,NM_001282276.1;CTD-2377D24.4,upstream_gene_variant,,ENST00000495536,;MIR3185,upstream_gene_variant,,ENST00000583892,;HOXB13-AS1_1,downstream_gene_variant,,ENST00000613209,;HOXB13-AS1_2,downstream_gene_variant,,ENST00000612962,;	A	ENST00000290295	Transcript	missense_variant	983/3467	398/855	133/284	Y/F	tAt/tTt		1		-1	HOXB13	HGNC	HGNC:5112	protein_coding	YES	CCDS11536.1	ENSP00000290295	Q92826		UPI000006F288	NM_006361.5	tolerated(0.27)		1/2		hmmpanther:PTHR24326:SF47,hmmpanther:PTHR24326																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	48728196	48728196	T	A	1	0	0	0	0	1	0	0	0	7194	1406	49	4		4	HOXB13	17	48728196	Missense_Mutation	SNP	T	C3N-00217_TP	1804979	48728196	34529245	522	12960											
SCN4A	0	.	GRCh38	chr17	63944727	63944727	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgccaatgaagaggttgagGgtgaagaaggagccaaagat	16	5	15	5	1	0	6	0	3	0	3	0	7	0	7	2	3	1	1	2	3	5	1	rs538933926		C3N-00217_TP	C3N-00217_NB	G	G																c.3858C>A	p.=	p.T1286T	ENST00000435607	21/24	166	119	47	201	201	0	strelka-varscan-mutect	SCN4A,synonymous_variant,p.=,ENST00000435607,NM_000334.4;SCN4A,synonymous_variant,p.=,ENST00000578147,;SCN4A,downstream_gene_variant,,ENST00000584310,;	T	ENST00000435607	Transcript	synonymous_variant	3935/7805	3858/5511	1286/1836	T	acC/acA	rs538933926	1		-1	SCN4A	HGNC	HGNC:10591	protein_coding	YES	CCDS45761.1	ENSP00000396320	P35499		UPI0000201254	NM_000334.4			21/24		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF223,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs538933926	.												T	2	4	43	63944727	63944727	G	T	1	0	0	0	0	0	0	0	1	14189	1219	43	2		2	SCN4A	17	63944727	Silent	SNP	G	C3N-00217_TP	15216531	63944727	19312714	523	12961											
ABCA6	0	.	GRCh38	chr17	69134722	69134722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtacatgaaaactcacCatatccatcccagcaatgag	16	8	5	12	0	1	2	1	2	0	0	3	2	3	2	3	0	3	2	3	0	6	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.481G>A	p.Gly161Ser	p.G161S	ENST00000284425	5/39	201	146	55	221	221	0	strelka-varscan-mutect	ABCA6,missense_variant,p.Gly161Ser,ENST00000284425,NM_080284.2;ABCA6,downstream_gene_variant,,ENST00000590645,;	T	ENST00000284425	Transcript	missense_variant	656/5300	481/4854	161/1617	G/S	Ggt/Agt		1		-1	ABCA6	HGNC	HGNC:36	protein_coding	YES	CCDS11683.1	ENSP00000284425	Q8N139		UPI000013DD9D	NM_080284.2	tolerated(0.91)		5/39		Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	69134722	69134722	C	T	1	0	0	0	0	1	0	0	0	40	594	21	3		3	ABCA6	17	69134722	Missense_Mutation	SNP	C	C3N-00217_TP	5189995	69134722	14122719	524	12962											
ABCA5	0	.	GRCh38	chr17	69270680	69270680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgataaagatagtagttaCtaatgatattcactaatata	19	14	5	3	0	1	3	1	2	0	1	1	3	1	3	0	0	1	2	0	0	11	10	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2963G>A	p.Ser988Asn	p.S988N	ENST00000392676	22/39	51	40	11	69	69	0	strelka-varscan-mutect	ABCA5,missense_variant,p.Ser988Asn,ENST00000392676,NM_172232.3;ABCA5,missense_variant,p.Ser988Asn,ENST00000588877,NM_018672.4;ABCA5,downstream_gene_variant,,ENST00000593153,;ABCA5,upstream_gene_variant,,ENST00000586811,;ABCA5,3_prime_UTR_variant,,ENST00000586995,;ABCA5,3_prime_UTR_variant,,ENST00000591234,;	T	ENST00000392676	Transcript	missense_variant	3028/8220	2963/4929	988/1642	S/N	aGt/aAt		1		-1	ABCA5	HGNC	HGNC:35	protein_coding	YES	CCDS11685.1	ENSP00000376443	Q8WWZ7		UPI000013DD9E	NM_172232.3	deleterious(0)		22/39		Transmembrane_helices:TMhelix,hmmpanther:PTHR19229:SF100,hmmpanther:PTHR19229,Pfam_domain:PF12698																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	69270680	69270680	C	T	1	0	0	0	0	1	0	0	0	39	565	20	3		3	ABCA5	17	69270680	Missense_Mutation	SNP	C	C3N-00217_TP	135958	69270680	13986761	525	12963											
OTOP3	0	.	GRCh38	chr17	74941552	74941552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatttctctctgctgctgcGgcgggaccggcaggcccaga	5	8	14	14	3	2	1	0	0	2	1	3	2	2	2	2	4	3	4	2	4	0	1	rs745958249		C3N-00217_TP	C3N-00217_NB	G	G																c.233G>A	p.Arg78Gln	p.R78Q	ENST00000328801	2/7	100	63	37	61	61	0	strelka-varscan-mutect	OTOP3,missense_variant,p.Arg78Gln,ENST00000328801,NM_001272005.1,NM_178233.2;OTOP3,3_prime_UTR_variant,,ENST00000580749,;	A	ENST00000328801	Transcript	missense_variant	233/2363	233/1791	78/596	R/Q	cGg/cAg	rs745958249,COSM1610742	1		1	OTOP3	HGNC	HGNC:19658	protein_coding	YES	CCDS11709.1	ENSP00000328090	Q7RTS5		UPI000019097F	NM_001272005.1,NM_178233.2	tolerated(0.51)		2/7		hmmpanther:PTHR21522:SF36,hmmpanther:PTHR21522											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs745958249	.												A	3	1	43	74941552	74941552	G	A	1	0	0	0	0	1	0	0	0	11375	1116	39	1		1	OTOP3	17	74941552	Missense_Mutation	SNP	G	C3N-00217_TP	5670872	74941552	8315889	526	12964											
LLGL2	0	.	GRCh38	chr17	75569254	75569254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctacagtgatgaccccCggctgggcatccagaagatc	10	6	10	15	1	0	4	0	2	0	2	2	4	1	4	5	2	1	2	5	2	2	1	rs781542922		C3N-00217_TP	C3N-00217_NB	C	C																c.1510C>T	p.Arg504Trp	p.R504W	ENST00000392550	14/26	191	144	47	149	149	0	strelka-varscan-mutect	LLGL2,missense_variant,p.Arg504Trp,ENST00000392550,NM_001031803.1;LLGL2,missense_variant,p.Arg504Trp,ENST00000167462,NM_004524.2;LLGL2,missense_variant,p.Arg504Trp,ENST00000577200,;LLGL2,downstream_gene_variant,,ENST00000578363,;LLGL2,downstream_gene_variant,,ENST00000375227,NM_001015002.1;LLGL2,synonymous_variant,p.=,ENST00000578719,;LLGL2,3_prime_UTR_variant,,ENST00000578638,;LLGL2,non_coding_transcript_exon_variant,,ENST00000545227,;LLGL2,non_coding_transcript_exon_variant,,ENST00000577500,;LLGL2,downstream_gene_variant,,ENST00000580027,;LLGL2,upstream_gene_variant,,ENST00000579092,;LLGL2,upstream_gene_variant,,ENST00000582393,;LLGL2,upstream_gene_variant,,ENST00000577211,;LLGL2,upstream_gene_variant,,ENST00000578034,;LLGL2,upstream_gene_variant,,ENST00000583514,;	T	ENST00000392550	Transcript	missense_variant	1627/3509	1510/3063	504/1020	R/W	Cgg/Tgg	rs781542922,COSM4467855,COSM4467856	1		1	LLGL2	HGNC	HGNC:6629	protein_coding	YES	CCDS32733.1	ENSP00000376333	Q6P1M3		UPI00005905A8	NM_001031803.1	deleterious(0)		14/26		Gene3D:2.130.10.10,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF20,Superfamily_domains:SSF50978,Superfamily_domains:SSF50978											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs781542922	.												T	3	4	43	75569254	75569254	C	T	1	0	0	0	0	1	0	0	0	8758	643	23	1		1	LLGL2	17	75569254	Missense_Mutation	SNP	C	C3N-00217_TP	627702	75569254	7688187	527	12965											
RNF157	0	.	GRCh38	chr17	76159465	76159465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcattcctgagaggtggcCatctccaagcacgtgaagtg	10	8	13	10	1	1	2	0	2	1	1	3	4	2	2	3	2	2	2	3	2	2	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1174G>T	p.Gly392Cys	p.G392C	ENST00000269391	12/19	145	108	37	144	144	0	strelka-varscan-mutect	RNF157,missense_variant,p.Gly392Cys,ENST00000269391,NM_052916.2;RNF157,missense_variant,p.Gly392Cys,ENST00000319945,;RNF157,downstream_gene_variant,,ENST00000591615,;RNF157,upstream_gene_variant,,ENST00000591355,;RP11-449J21.5,downstream_gene_variant,,ENST00000586661,;RP11-449J21.5,downstream_gene_variant,,ENST00000592748,;RNF157,upstream_gene_variant,,ENST00000592869,;RNF157,downstream_gene_variant,,ENST00000593155,;	A	ENST00000269391	Transcript	missense_variant	1307/4955	1174/2040	392/679	G/C	Ggc/Tgc		1		-1	RNF157	HGNC	HGNC:29402	protein_coding	YES	CCDS32740.1	ENSP00000269391	Q96PX1		UPI00001C1FDD	NM_052916.2	tolerated(0.08)		12/19		hmmpanther:PTHR22996:SF1,hmmpanther:PTHR22996																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	76159465	76159465	C	A	1	0	0	0	0	1	0	0	0	13632	594	21	2		2	RNF157	17	76159465	Missense_Mutation	SNP	C	C3N-00217_TP	590211	76159465	7097976	528	12966											
RNF213	0	.	GRCh38	chr17	80346557	80346557	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggcgtacctctgaggaaaaCcatcgccaagaacttggcct	11	7	10	13	3	1	2	0	1	1	1	2	3	1	3	4	3	3	1	4	3	5	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.8222C>G	p.Thr2741Ser	p.T2741S	ENST00000582970	29/68	516	447	69	400	400	0	strelka-varscan-mutect	RNF213,missense_variant,p.Thr2741Ser,ENST00000582970,NM_001256071.2;RNF213,missense_variant,p.Thr2790Ser,ENST00000508628,;CTD-2047H16.3,downstream_gene_variant,,ENST00000622931,;	G	ENST00000582970	Transcript	missense_variant	8365/21055	8222/15624	2741/5207	T/S	aCc/aGc		1		1	RNF213	HGNC	HGNC:14539	protein_coding	YES	CCDS58606.1	ENSP00000464087		A0A0A0MTR7	UPI00043788D6	NM_001256071.2	deleterious(0.01)		29/68		hmmpanther:PTHR22605:SF5,hmmpanther:PTHR22605																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	80346557	80346557	C	G	1	0	0	0	0	1	0	0	0	13656	507	18	4		4	RNF213	17	80346557	Missense_Mutation	SNP	C	C3N-00217_TP	4187092	80346557	2910884	529	12967											
EMILIN2	0	.	GRCh38	chr18	2891042	2891042	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagctcagggcccgacGgtgaccatgacaaccaacga	13	3	12	13	3	1	2	1	2	0	0	1	5	1	2	3	2	4	2	3	2	3	0	rs114420829		C3N-00217_TP	C3N-00217_NB	G	G																c.915G>T	p.=	p.T305T	ENST00000254528	4/8	379	252	127	324	323	1	strelka-varscan-mutect	EMILIN2,synonymous_variant,p.=,ENST00000254528,NM_032048.2;	T	ENST00000254528	Transcript	synonymous_variant	1074/5910	915/3162	305/1053	T	acG/acT	rs114420829	1		1	EMILIN2	HGNC	HGNC:19881	protein_coding	YES	CCDS11828.1	ENSP00000254528	Q9BXX0		UPI000013CE3E	NM_032048.2			4/8		hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF5																	LOW	1	SNV	1			1										PASS		rs114420829	.												T	2	4	43	2891042	2891042	G	T	1	0	0	0	0	0	0	0	1	4937	1103	39	1		1	EMILIN2	18	2891042	Silent	SNP	G	C3N-00217_TP		2891042	77482243	530	12968											
LAMA1	0	.	GRCh38	chr18	6978295	6978295	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagctcctggctcagccCcgccacgtccctcagcgtgc	5	6	10	20	3	2	0	2	0	0	0	4	0	4	0	5	1	5	3	5	1	0	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.6091G>T	p.Gly2031Trp	p.G2031W	ENST00000389658	43/63	432	317	115	329	328	1	strelka-varscan-mutect	LAMA1,missense_variant,p.Gly2031Trp,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	A	ENST00000389658	Transcript	missense_variant	6185/9657	6091/9228	2031/3075	G/W	Ggg/Tgg		1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	deleterious(0)		43/63		Pfam_domain:PF06009,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	43	6978295	6978295	C	A	1	0	0	0	0	1	0	0	0	8509	623	22	2		2	LAMA1	18	6978295	Missense_Mutation	SNP	C	C3N-00217_TP	4087253	6978295	73394990	531	12969											
AFG3L2	0	.	GRCh38	chr18	12329765	12329765	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatctaatacttctttttCtaacaacagaagagcaacct	14	14	3	10	0	3	2	0	0	3	2	3	2	3	2	1	0	5	1	1	0	7	7	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2194G>T	p.Glu732Ter	p.E732*	ENST00000269143	17/17	254	176	78	237	236	1	strelka-varscan-mutect	AFG3L2,stop_gained,p.Glu732Ter,ENST00000269143,NM_006796.2;TUBB6,3_prime_UTR_variant,,ENST00000591909,NM_001303525.1;TUBB6,intron_variant,,ENST00000590967,;TUBB6,intron_variant,,ENST00000586691,;TUBB6,downstream_gene_variant,,ENST00000317702,NM_001303524.1,NM_032525.2,NM_001303529.1;TUBB6,downstream_gene_variant,,ENST00000591208,;TUBB6,downstream_gene_variant,,ENST00000590103,NM_001303526.1;TUBB6,downstream_gene_variant,,ENST00000586653,;TUBB6,downstream_gene_variant,,ENST00000590693,;TUBB6,downstream_gene_variant,,ENST00000591463,;TUBB6,downstream_gene_variant,,ENST00000592683,;TUBB6,downstream_gene_variant,,ENST00000417736,;TUBB6,downstream_gene_variant,,ENST00000586810,;TUBB6,downstream_gene_variant,,ENST00000590388,;	A	ENST00000269143	Transcript	stop_gained	2426/3247	2194/2394	732/797	E/*	Gaa/Taa		1		-1	AFG3L2	HGNC	HGNC:315	protein_coding	YES	CCDS11859.1	ENSP00000269143	Q9Y4W6		UPI000013D7FF	NM_006796.2			17/17		Low_complexity_(Seg):seg,HAMAP:MF_01458,hmmpanther:PTHR23076,hmmpanther:PTHR23076:SF45,Pfam_domain:PF01434,TIGRFAM_domain:TIGR01241,Superfamily_domains:SSF140990																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	43	12329765	12329765	C	A	1	0	0	0	0	0	1	0	0	437	922	32	2		2	AFG3L2	18	12329765	Nonsense_Mutation	SNP	C	C3N-00217_TP	5351470	12329765	68043520	532	12970											
GATA6	0	.	GRCh38	chr18	22171171	22171172	+	Frame_Shift_Ins	INS	-	-	T																															tgactgacggcggctggtgcINSttgccgaagcgcttcggggc																								novel		C3N-00217_TP	C3N-00217_NB	-	-																c.29dupT	p.Leu10PhefsTer108	p.L10Ffs*108	ENST00000269216	2/7	175	129	46	101	101	0	sindel-varindel-pindel	GATA6,frameshift_variant,p.Leu10PhefsTer108,ENST00000269216,NM_005257.5;GATA6,frameshift_variant,p.Leu10PhefsTer108,ENST00000581694,;GATA6-AS1,upstream_gene_variant,,ENST00000583490,;GATA6-AS1,upstream_gene_variant,,ENST00000584373,;GATA6-AS1,upstream_gene_variant,,ENST00000579431,;GATA6-AS1,upstream_gene_variant,,ENST00000584201,;RP11-627G18.2,downstream_gene_variant,,ENST00000578504,;	T	ENST00000269216	Transcript	frameshift_variant	304-305/3770	27-28/1788	9-10/595	-/X	-/T		1		1	GATA6	HGNC	HGNC:4174	protein_coding	YES	CCDS11872.1	ENSP00000269216	Q92908		UPI0000201AC8	NM_005257.5			2/7		hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF23																	HIGH	1	insertion	1	2		1										PASS		.	.												T	7	5	43	22171171	22171171	-	T	1	0	1	1	0	0	0	0	0	6128	805	28	0		0	GATA6	18	22171171	Frame_Shift_Ins	INS	-	C3N-00217_TP	9841406	22171171	58202114	533	12971											
DSC3	0	.	GRCh38	chr18	30997005	30997005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtaccacaaaaaccttggCtagagttgttggtagtttgg	11	13	11	6	0	0	1	0	0	0	1	0	1	0	1	2	3	2	6	2	3	6	8	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2279G>T	p.Ser760Ile	p.S760I	ENST00000360428	15/16	343	263	80	323	323	0	strelka-varscan-mutect	DSC3,missense_variant,p.Ser760Ile,ENST00000434452,NM_024423.3;DSC3,missense_variant,p.Ser760Ile,ENST00000360428,NM_001941.4;DSC3,missense_variant,p.Ser135Ile,ENST00000584980,;	A	ENST00000360428	Transcript	missense_variant	2360/6939	2279/2691	760/896	S/I	aGc/aTc		1		-1	DSC3	HGNC	HGNC:3037	protein_coding	YES	CCDS32810.1	ENSP00000353608	Q14574		UPI000004CAAD	NM_001941.4	deleterious(0.03)		15/16		hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	30997005	30997005	C	A	1	0	0	0	0	1	0	0	0	4588	797	28	2		2	DSC3	18	30997005	Missense_Mutation	SNP	C	C3N-00217_TP	8825834	30997005	49376280	534	12972											
DSC3	0	.	GRCh38	chr18	31008468	31008468	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatctctagcaaatggcgCttcattgtttactccaattt	11	16	5	9	1	2	0	1	0	1	0	4	0	3	0	1	1	2	3	1	1	6	7	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1321G>T	p.Ala441Ser	p.A441S	ENST00000360428	10/16	391	294	97	324	324	0	strelka-varscan-mutect	DSC3,missense_variant,p.Ala441Ser,ENST00000434452,NM_024423.3;DSC3,missense_variant,p.Ala441Ser,ENST00000360428,NM_001941.4;DSC3,upstream_gene_variant,,ENST00000584980,;	A	ENST00000360428	Transcript	missense_variant	1402/6939	1321/2691	441/896	A/S	Gcg/Tcg		1		-1	DSC3	HGNC	HGNC:3037	protein_coding	YES	CCDS32810.1	ENSP00000353608	Q14574		UPI000004CAAD	NM_001941.4	deleterious(0)		10/16		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF12,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs1212344002	.												A	3	1	43	31008468	31008468	C	A	1	0	0	0	0	1	0	0	0	4588	797	28	2		2	DSC3	18	31008468	Missense_Mutation	SNP	C	C3N-00217_TP	11463	31008468	49364817	535	12973											
DSC2	0	.	GRCh38	chr18	31069067	31069067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgatggtctcctgacctcCgtttttgattcctgatccca	5	16	7	13	2	1	3	0	3	1	0	6	4	4	3	5	1	0	1	5	1	0	4	rs139290300		C3N-00217_TP	C3N-00217_NB	C	C																c.2335G>C	p.Gly779Arg	p.G779R	ENST00000280904	15/16	456	411	45	359	359	0	strelka-varscan-mutect	DSC2,missense_variant,p.Gly779Arg,ENST00000280904,NM_024422.4;DSC2,missense_variant,p.Gly779Arg,ENST00000251081,NM_004949.4;	G	ENST00000280904	Transcript	missense_variant	2779/12325	2335/2706	779/901	G/R	Gga/Cga	rs139290300,COSM1711081,COSM1711082	1		-1	DSC2	HGNC	HGNC:3036	protein_coding	YES	CCDS11892.1	ENSP00000280904	Q02487		UPI00001298F9	NM_024422.4	deleterious(0.02)		15/16		hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF0										uncertain_significance	0,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs139290300	.												G	3	3	43	31069067	31069067	C	G	1	0	0	0	0	1	0	0	0	4587	661	23	4		4	DSC2	18	31069067	Missense_Mutation	SNP	C	C3N-00217_TP	60599	31069067	49304218	536	12974											
DSG1	0	.	GRCh38	chr18	31343462	31343462	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccagtggtcccattttTgatgatctgttgtgattgtg	7	16	10	8	0	1	3	0	3	1	0	2	3	2	3	3	1	0	1	3	1	0	4	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.1700T>A	p.Leu567Ter	p.L567*	ENST00000257192	12/15	612	464	148	427	427	0	strelka-varscan-mutect	DSG1,stop_gained,p.Leu567Ter,ENST00000257192,NM_001942.3;DSG1,upstream_gene_variant,,ENST00000462981,;RNU6-167P,downstream_gene_variant,,ENST00000384292,;DSG1-AS1,non_coding_transcript_exon_variant,,ENST00000581856,;DSG1-AS1,non_coding_transcript_exon_variant,,ENST00000578119,;DSG1-AS1,downstream_gene_variant,,ENST00000578477,;	A	ENST00000257192	Transcript	stop_gained	1912/5045	1700/3150	567/1049	L/*	tTg/tAg		1		1	DSG1	HGNC	HGNC:3048	protein_coding	YES	CCDS11896.1	ENSP00000257192	Q02413		UPI000013CF4C	NM_001942.3			12/15		hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF9																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	43	31343462	31343462	T	A	1	0	0	0	0	0	1	0	0	4597	1821	63	4		4	DSG1	18	31343462	Nonsense_Mutation	SNP	T	C3N-00217_TP	274395	31343462	49029823	537	12975											
KIAA1328	0	.	GRCh38	chr18	36959326	36959326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcttcagctacagtataGagaatgccaagaacttctaa	15	10	6	10	0	3	2	1	0	2	2	3	3	3	2	2	0	4	2	2	0	7	6	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.467G>T	p.Arg156Ile	p.R156I	ENST00000280020	6/10	144	90	54	192	191	1	strelka-varscan-mutect	KIAA1328,missense_variant,p.Arg152Ile,ENST00000591619,;KIAA1328,missense_variant,p.Arg156Ile,ENST00000280020,NM_020776.1;KIAA1328,missense_variant,p.Arg144Ile,ENST00000587139,;KIAA1328,intron_variant,,ENST00000586135,;KIAA1328,intron_variant,,ENST00000591911,;KIAA1328,downstream_gene_variant,,ENST00000590456,;KIAA1328,3_prime_UTR_variant,,ENST00000590617,;KIAA1328,3_prime_UTR_variant,,ENST00000592611,;	T	ENST00000280020	Transcript	missense_variant	489/4853	467/1734	156/577	R/I	aGa/aTa		1		1	KIAA1328	HGNC	HGNC:29248	protein_coding	YES	CCDS45855.1	ENSP00000280020	Q86T90		UPI00001C1FF0	NM_020776.1	deleterious(0.01)		6/10		Pfam_domain:PF15369,hmmpanther:PTHR28375,hmmpanther:PTHR28375:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	36959326	36959326	G	T	1	0	0	0	0	1	0	0	0	8113	942	33	2		2	KIAA1328	18	36959326	Missense_Mutation	SNP	G	C3N-00217_TP	5615864	36959326	43413959	538	12976											
SYT4	0	.	GRCh38	chr18	43274062	43274062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccttctaaaaagagcttcgGggttgcattctccagatcag	10	11	9	11	1	3	2	1	0	2	2	5	2	3	2	2	2	2	3	2	2	3	5	rs746536919		C3N-00217_TP	C3N-00217_NB	G	G																c.367C>A	p.Pro123Thr	p.P123T	ENST00000255224	2/4	266	145	121	223	223	0	strelka-varscan-mutect	SYT4,missense_variant,p.Pro123Thr,ENST00000255224,NM_020783.3;SYT4,missense_variant,p.Pro105Thr,ENST00000590752,;SYT4,intron_variant,,ENST00000596867,;SYT4,intron_variant,,ENST00000593720,;SYT4,non_coding_transcript_exon_variant,,ENST00000591820,;SYT4,intron_variant,,ENST00000586678,;SYT4,intron_variant,,ENST00000585604,;SYT4,upstream_gene_variant,,ENST00000589479,;	T	ENST00000255224	Transcript	missense_variant	736/4110	367/1278	123/425	P/T	Ccg/Acg	rs746536919,COSM5299669,COSM5299670	1		-1	SYT4	HGNC	HGNC:11512	protein_coding	YES	CCDS11922.1	ENSP00000255224	Q9H2B2		UPI000013669E	NM_020783.3	tolerated(0.21)		2/4		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF114											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs746536919	.												T	3	4	43	43274062	43274062	G	T	1	0	0	0	0	1	0	0	0	15870	1232	43	2		2	SYT4	18	43274062	Missense_Mutation	SNP	G	C3N-00217_TP	6314736	43274062	37099223	539	12977											
SETBP1	0	.	GRCh38	chr18	44952368	44952368	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgctctatcttcgtaggActtcagacttgaagtcaaag	10	13	9	9	2	4	2	2	1	2	1	5	3	4	3	0	1	1	3	0	1	4	6	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.3028A>G	p.Thr1010Ala	p.T1010A	ENST00000282030	4/6	476	356	120	453	453	0	strelka-varscan-mutect	SETBP1,missense_variant,p.Thr1010Ala,ENST00000282030,NM_015559.2;	G	ENST00000282030	Transcript	missense_variant	3324/9899	3028/4791	1010/1596	T/A	Act/Gct		1		1	SETBP1	HGNC	HGNC:15573	protein_coding	YES	CCDS11923.2	ENSP00000282030	Q9Y6X0		UPI0000201C54	NM_015559.2	tolerated(0.11)		4/6		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF342																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	44952368	44952368	A	G	1	0	0	0	0	1	0	0	0	14406	275	10	5		5	SETBP1	18	44952368	Missense_Mutation	SNP	A	C3N-00217_TP	1678306	44952368	35420917	540	12978											
ATP5A1	0	.	GRCh38	chr18	46086391	46086391	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgatgcaaaattacctgcTtcatagccctggtttgggca	10	12	10	9	0	1	1	1	1	0	0	1	1	1	1	2	2	4	4	2	2	4	4	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.1280A>T	p.Lys427Met	p.K427M	ENST00000398752	9/12	260	193	67	205	205	0	strelka-varscan-mutect	ATP5A1,missense_variant,p.Lys427Met,ENST00000398752,NM_004046.5;ATP5A1,missense_variant,p.Lys377Met,ENST00000593152,NM_001001935.2,NM_001257335.1;ATP5A1,missense_variant,p.Lys427Met,ENST00000282050,NM_001001937.1;ATP5A1,missense_variant,p.Lys405Met,ENST00000590665,NM_001257334.1;ATP5A1,downstream_gene_variant,,ENST00000589869,;ATP5A1,downstream_gene_variant,,ENST00000590324,;ATP5A1,downstream_gene_variant,,ENST00000590406,;ATP5A1,downstream_gene_variant,,ENST00000589252,;ATP5A1,downstream_gene_variant,,ENST00000592989,;ATP5A1,3_prime_UTR_variant,,ENST00000586592,;ATP5A1,3_prime_UTR_variant,,ENST00000590156,;ATP5A1,3_prime_UTR_variant,,ENST00000592364,;ATP5A1,non_coding_transcript_exon_variant,,ENST00000586523,;ATP5A1,non_coding_transcript_exon_variant,,ENST00000587902,;ATP5A1,downstream_gene_variant,,ENST00000589611,;ATP5A1,downstream_gene_variant,,ENST00000590448,;ATP5A1,downstream_gene_variant,,ENST00000591981,;ATP5A1,downstream_gene_variant,,ENST00000585650,;	A	ENST00000398752	Transcript	missense_variant	1402/5818	1280/1662	427/553	K/M	aAg/aTg		1		-1	ATP5A1	HGNC	HGNC:823	protein_coding	YES	CCDS11927.1	ENSP00000381736	P25705	V9HW26	UPI000006221A	NM_004046.5	deleterious_low_confidence(0)		9/12		HAMAP:MF_01346,hmmpanther:PTHR15184:SF3,hmmpanther:PTHR15184,Gene3D:2ck3A03,Pfam_domain:PF00306,TIGRFAM_domain:TIGR00962,PIRSF_domain:PIRSF039088,Superfamily_domains:SSF47917																	MODERATE	1	SNV	1			1										PASS		rs1414605468	.												A	3	1	43	46086391	46086391	T	A	1	0	0	0	0	1	0	0	0	1300	1623	56	4		4	ATP5A1	18	46086391	Missense_Mutation	SNP	T	C3N-00217_TP	1134023	46086391	34286894	541	12979											
POLI	0	.	GRCh38	chr18	54282943	54282943	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagaattaggaatttcAgttgctcagcgtatccaaaa	17	10	8	6	1	2	1	2	0	0	1	3	3	3	2	1	1	2	3	1	1	8	4			C3N-00217_TP	C3N-00217_NB	A	A																c.903A>T	p.=	p.S301S	ENST00000579534	6/10	135	80	55	152	152	0	strelka-varscan-mutect	POLI,synonymous_variant,p.=,ENST00000579534,NM_007195.2;POLI,synonymous_variant,p.=,ENST00000579434,;POLI,synonymous_variant,p.=,ENST00000217800,;POLI,synonymous_variant,p.=,ENST00000406285,;POLI,synonymous_variant,p.=,ENST00000579823,;POLI,downstream_gene_variant,,ENST00000583136,;POLI,downstream_gene_variant,,ENST00000577612,;POLI,downstream_gene_variant,,ENST00000580880,;POLI,upstream_gene_variant,,ENST00000582366,;POLI,downstream_gene_variant,,ENST00000580905,;POLI,synonymous_variant,p.=,ENST00000585023,;POLI,synonymous_variant,p.=,ENST00000581950,;POLI,downstream_gene_variant,,ENST00000577971,;POLI,upstream_gene_variant,,ENST00000577361,;POLI,upstream_gene_variant,,ENST00000583576,;	T	ENST00000579534	Transcript	synonymous_variant	1046/6133	903/2223	301/740	S	tcA/tcT	COSM988961,COSM988962	1		1	POLI	HGNC	HGNC:9182	protein_coding	YES	CCDS11954.2	ENSP00000462664	Q9UNA4		UPI00004DDD95	NM_007195.2			6/10		Gene3D:1.10.150.20,hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF10,Superfamily_domains:SSF56672											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	43	54282943	54282943	A	T	1	0	0	0	0	0	0	0	1	12313	175	7	4		4	POLI	18	54282943	Silent	SNP	A	C3N-00217_TP	8196552	54282943	26090342	542	12980											
TCF4	0	.	GRCh38	chr18	55631312	55631312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctaccttggcctcccaaaGtgctgggattacaggtgtga	9	10	11	11	0	0	1	0	1	0	0	1	2	1	2	4	3	3	1	4	3	3	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.272C>A	p.Thr91Asn	p.T91N	ENST00000398339	2/21	95	85	10	74	74	0	strelka-varscan-mutect	TCF4,missense_variant,p.Thr91Asn,ENST00000398339,NM_001243226.2;TCF4,intron_variant,,ENST00000568169,;TCF4,intron_variant,,ENST00000565124,;TCF4,intron_variant,,ENST00000628391,;TCF4,missense_variant,p.Thr91Asn,ENST00000627320,;TCF4,missense_variant,p.Thr90Asn,ENST00000569357,;TCF4,missense_variant,p.Thr18Asn,ENST00000565393,;TCF4,intron_variant,,ENST00000630224,;RPL21P126,upstream_gene_variant,,ENST00000470049,;	T	ENST00000398339	Transcript	missense_variant	402/2551	272/2322	91/773	T/N	aCt/aAt		1		-1	TCF4	HGNC	HGNC:11634	protein_coding	YES	CCDS58631.1	ENSP00000381382		E9PH57	UPI0000EE5B9B	NM_001243226.2	deleterious_low_confidence(0.01)		2/21																			MODERATE	1	SNV	1			1										PASS		rs1306347941	.												T	3	4	43	55631312	55631312	G	T	1	0	0	0	0	1	0	0	0	16102	1029	36	2		2	TCF4	18	55631312	Missense_Mutation	SNP	G	C3N-00217_TP	1348369	55631312	24741973	543	12981											
PHLPP1	0	.	GRCh38	chr18	62895073	62895073	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggacttcccactggcagTctgcagtattccaaccctgg	8	9	11	13	0	1	0	0	0	1	0	3	1	3	1	3	4	2	3	3	4	2	3	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.2129T>A	p.Val710Asp	p.V710D	ENST00000262719	5/17	177	114	63	140	140	0	strelka-varscan-mutect	PHLPP1,missense_variant,p.Val710Asp,ENST00000262719,NM_194449.3;PHLPP1,non_coding_transcript_exon_variant,,ENST00000487409,;	A	ENST00000262719	Transcript	missense_variant	2363/6390	2129/5154	710/1717	V/D	gTc/gAc		1		1	PHLPP1	HGNC	HGNC:20610	protein_coding	YES	CCDS45881.2	ENSP00000262719	O60346		UPI000051AE2E	NM_194449.3	deleterious(0)		5/17		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF252,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	62895073	62895073	T	A	1	0	0	0	0	1	0	0	0	11942	1667	58	4		4	PHLPP1	18	62895073	Missense_Mutation	SNP	T	C3N-00217_TP	7263761	62895073	17478212	544	12982											
SERPINB7	0	.	GRCh38	chr18	63798624	63798624	+	Missense_Mutation	SNP	G	G	T																															gcaaaatcaagaacgtgattGgtgaaggtggcataagctca																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.475G>T	p.Gly159Cys	p.G159C	ENST00000398019	6/8	146	115	31	123	123	0	strelka-varscan-mutect	SERPINB7,missense_variant,p.Gly159Cys,ENST00000398019,NM_003784.3;SERPINB7,missense_variant,p.Gly142Cys,ENST00000540675,NM_001261831.1;SERPINB7,missense_variant,p.Gly159Cys,ENST00000336429,NM_001040147.2;SERPINB7,missense_variant,p.Gly159Cys,ENST00000546027,NM_001261830.1;SERPINB7,missense_variant,p.Gly159Cys,ENST00000447428,;SERPINB7,downstream_gene_variant,,ENST00000425392,;SERPINB7,downstream_gene_variant,,ENST00000431370,;	T	ENST00000398019	Transcript	missense_variant	800/2203	475/1143	159/380	G/C	Ggt/Tgt		1		1	SERPINB7	HGNC	HGNC:13902	protein_coding	YES	CCDS11988.1	ENSP00000381101	O75635		UPI0000135DAA	NM_003784.3	deleterious(0.03)		6/8		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF56,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	63798624	63798624	G	T	1	0	0	0	0	1	0	0	0	14382	1348	47	2		2	SERPINB7	18	63798624	Missense_Mutation	SNP	G	C3N-00217_TP	903551	63798624	16574661	545	12983	300	2									
SERPINB7	0	.	GRCh38	chr18	63798625	63798625	+	Missense_Mutation	SNP	G	G	T																															caaaatcaagaacgtgattgGtgaaggtggcataagctcat																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.476G>T	p.Gly159Val	p.G159V	ENST00000398019	6/8	150	117	33	125	124	1	strelka-varscan-mutect	SERPINB7,missense_variant,p.Gly159Val,ENST00000398019,NM_003784.3;SERPINB7,missense_variant,p.Gly142Val,ENST00000540675,NM_001261831.1;SERPINB7,missense_variant,p.Gly159Val,ENST00000336429,NM_001040147.2;SERPINB7,missense_variant,p.Gly159Val,ENST00000546027,NM_001261830.1;SERPINB7,missense_variant,p.Gly159Val,ENST00000447428,;SERPINB7,downstream_gene_variant,,ENST00000425392,;SERPINB7,downstream_gene_variant,,ENST00000431370,;	T	ENST00000398019	Transcript	missense_variant	801/2203	476/1143	159/380	G/V	gGt/gTt		1		1	SERPINB7	HGNC	HGNC:13902	protein_coding	YES	CCDS11988.1	ENSP00000381101	O75635		UPI0000135DAA	NM_003784.3	tolerated(0.28)		6/8		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF56,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	63798625	63798625	G	T	1	0	0	0	0	1	0	0	0	14382	1261	44	2		2	SERPINB7	18	63798625	Missense_Mutation	SNP	G	C3N-00217_TP	1	63798625	16574660	546	12984	300	2									
CDH7	0	.	GRCh38	chr18	65843899	65843899	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgctttctgagcttgggtCcgttcagtgacacgacaact	7	12	10	12	3	2	2	1	2	1	0	4	3	3	2	1	1	2	3	1	1	1	3			C3N-00217_TP	C3N-00217_NB	C	C																c.1069C>A	p.Pro357Thr	p.P357T	ENST00000397968	7/12	123	89	34	108	108	0	strelka-varscan-mutect	CDH7,missense_variant,p.Pro357Thr,ENST00000397968,NM_004361.2;CDH7,missense_variant,p.Pro357Thr,ENST00000536984,NM_001317214.1;CDH7,missense_variant,p.Pro357Thr,ENST00000323011,NM_033646.1;	A	ENST00000397968	Transcript	missense_variant	1495/12231	1069/2358	357/785	P/T	Ccg/Acg	COSM3527224,COSM3527225	1		1	CDH7	HGNC	HGNC:1766	protein_coding	YES	CCDS11993.1	ENSP00000381058	Q9ULB5		UPI000013D269	NM_004361.2	tolerated(0.11)		7/12		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	43	65843899	65843899	C	A	1	0	0	0	0	1	0	0	0	2818	855	30	2		2	CDH7	18	65843899	Missense_Mutation	SNP	C	C3N-00217_TP	2045274	65843899	14529386	547	12985											
ZNF407	0	.	GRCh38	chr18	74631500	74631500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggaaatggtttcccttGatctggaaagagaatctcct	11	12	9	9	0	3	2	1	1	2	1	5	5	4	4	2	3	0	1	2	3	3	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.481G>T	p.Asp161Tyr	p.D161Y	ENST00000299687	1/8	288	184	104	303	303	0	strelka-varscan-mutect	ZNF407,missense_variant,p.Asp161Tyr,ENST00000299687,NM_017757.2;ZNF407,missense_variant,p.Asp161Tyr,ENST00000577538,NM_001146189.1;ZNF407,missense_variant,p.Asp161Tyr,ENST00000582337,;ZNF407,missense_variant,p.Asp161Tyr,ENST00000309902,NM_001146190.1;	T	ENST00000299687	Transcript	missense_variant	481/7948	481/6747	161/2248	D/Y	Gat/Tat		1		1	ZNF407	HGNC	HGNC:19904	protein_coding	YES	CCDS45885.1	ENSP00000299687	Q9C0G0		UPI0000F58ED1	NM_017757.2	tolerated(1)		1/8		hmmpanther:PTHR24402:SF5,hmmpanther:PTHR24402																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	74631500	74631500	G	T	1	0	0	0	0	1	0	0	0	18459	1290	45	2		2	ZNF407	18	74631500	Missense_Mutation	SNP	G	C3N-00217_TP	8787601	74631500	5741785	548	12986											
ZNF407	0	.	GRCh38	chr18	74634102	74634102	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgtgagtttagtgctcactCctctgcttctctagagctgc	5	15	9	12	0	3	2	1	1	2	1	5	2	4	2	1	0	4	4	1	0	2	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.3083C>G	p.Ser1028Cys	p.S1028C	ENST00000299687	1/8	250	209	41	202	202	0	strelka-varscan-mutect	ZNF407,missense_variant,p.Ser1028Cys,ENST00000299687,NM_017757.2;ZNF407,missense_variant,p.Ser1028Cys,ENST00000577538,NM_001146189.1;ZNF407,missense_variant,p.Ser1028Cys,ENST00000582337,;ZNF407,missense_variant,p.Ser1028Cys,ENST00000309902,NM_001146190.1;	G	ENST00000299687	Transcript	missense_variant	3083/7948	3083/6747	1028/2248	S/C	tCc/tGc		1		1	ZNF407	HGNC	HGNC:19904	protein_coding	YES	CCDS45885.1	ENSP00000299687	Q9C0G0		UPI0000F58ED1	NM_017757.2	deleterious(0)		1/8		SMART_domains:SM00355																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	74634102	74634102	C	G	1	0	0	0	0	1	0	0	0	18459	855	30	4		4	ZNF407	18	74634102	Missense_Mutation	SNP	C	C3N-00217_TP	2602	74634102	5739183	549	12987											
SALL3	0	.	GRCh38	chr18	78992088	78992088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagccgccccgggggaaGgtgcggaggacgcagacagc	8	3	18	12	4	0	1	0	0	0	1	0	4	0	4	3	5	4	2	3	5	1	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.97G>T	p.Gly33Cys	p.G33C	ENST00000537592	2/3	52	34	18	43	43	0	strelka-varscan-mutect	SALL3,missense_variant,p.Gly33Cys,ENST00000537592,NM_171999.3;SALL3,missense_variant,p.Gly33Cys,ENST00000575389,;SALL3,missense_variant,p.Gly33Cys,ENST00000616649,;SALL3,5_prime_UTR_variant,,ENST00000536229,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,non_coding_transcript_exon_variant,,ENST00000572928,;	T	ENST00000537592	Transcript	missense_variant	97/6555	97/3903	33/1300	G/C	Ggt/Tgt		1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3	deleterious(0.03)		2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	78992088	78992088	G	T	1	0	0	0	0	1	0	0	0	14071	1000	35	2		2	SALL3	18	78992088	Missense_Mutation	SNP	G	C3N-00217_TP	4357986	78992088	1381197	550	12988											
SALL3	0	.	GRCh38	chr18	78992129	78992129	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggcccgagagccgcagcggGggcgaggagaccagcgtgtg	7	2	21	11	5	0	2	0	0	0	2	0	5	0	2	3	4	3	1	3	4	0	0	rs780511868		C3N-00217_TP	C3N-00217_NB	G	G																c.138G>T	p.=	p.G46G	ENST00000537592	2/3	84	57	27	66	66	0	strelka-varscan-mutect	SALL3,synonymous_variant,p.=,ENST00000537592,NM_171999.3;SALL3,synonymous_variant,p.=,ENST00000575389,;SALL3,synonymous_variant,p.=,ENST00000616649,;SALL3,5_prime_UTR_variant,,ENST00000536229,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,non_coding_transcript_exon_variant,,ENST00000572928,;	T	ENST00000537592	Transcript	synonymous_variant	138/6555	138/3903	46/1300	G	ggG/ggT	rs780511868	1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3			2/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46																	LOW	1	SNV	5			1										PASS		rs780511868	.												T	2	4	43	78992129	78992129	G	T	1	0	0	0	0	0	0	0	1	14071	1219	43	2		2	SALL3	18	78992129	Silent	SNP	G	C3N-00217_TP	41	78992129	1381156	551	12989											
STK11	0	.	GRCh38	chr19	1222988	1222988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttctgggcgtttgcagctgGttccggaagaaacatcctcc	7	11	11	12	2	1	1	0	0	1	1	4	2	4	2	3	3	3	4	3	3	2	3			C3N-00217_TP	C3N-00217_NB	G	G																c.924G>T	p.Trp308Cys	p.W308C	ENST00000326873	8/10	50	26	24	63	63	0	strelka-varscan-mutect	STK11,missense_variant,p.Trp308Cys,ENST00000586243,;STK11,missense_variant,p.Trp308Cys,ENST00000326873,NM_000455.4;STK11,upstream_gene_variant,,ENST00000585465,;STK11,downstream_gene_variant,,ENST00000585748,;STK11,downstream_gene_variant,,ENST00000585851,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000591133,;STK11,downstream_gene_variant,,ENST00000586358,;STK11,downstream_gene_variant,,ENST00000593219,;	T	ENST00000326873	Transcript	missense_variant	1374/2611	924/1302	308/433	W/C	tgG/tgT	CM981871,KinMutBase_STK11_DNA:g.17075G>T	1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4	deleterious(0)		8/10		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1		1,0	1										PASS		rs1057520042	.												T	3	4	43	1222988	1222988	G	T	1	0	0	0	0	1	0	0	0	15664	1275	44	2		2	STK11	19	1222988	Missense_Mutation	SNP	G	C3N-00217_TP		1222988	57394628	552	12990											
DOHH	0	.	GRCh38	chr19	3491761	3491761	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcctcgtgctgcagctgtcCcaggacgtagccgacctcgt	5	8	12	16	5	0	0	0	0	0	0	3	2	1	1	4	1	4	4	4	1	1	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.640G>C	p.Gly214Arg	p.G214R	ENST00000427575	5/5	73	36	37	73	73	0	strelka-varscan-mutect	DOHH,missense_variant,p.Gly214Arg,ENST00000427575,NM_001145165.1;DOHH,missense_variant,p.Gly214Arg,ENST00000250937,NM_031304.4;DOHH,missense_variant,p.Gly214Arg,ENST00000592858,;DOHH,downstream_gene_variant,,ENST00000587122,;DOHH,non_coding_transcript_exon_variant,,ENST00000586906,;	G	ENST00000427575	Transcript	missense_variant	1092/2031	640/909	214/302	G/R	Gga/Cga		1		-1	DOHH	HGNC	HGNC:28662	protein_coding	YES	CCDS12108.1	ENSP00000398882	Q9BU89		UPI0000071C59	NM_001145165.1	deleterious(0)		5/5		HAMAP:MF_03101,hmmpanther:PTHR12697,Pfam_domain:PF13646,Gene3D:1.25.10.10,SMART_domains:SM00567,Superfamily_domains:SSF48371																	MODERATE	1	SNV	3			1										PASS		.	.												G	3	3	43	3491761	3491761	C	G	1	0	0	0	0	1	0	0	0	4510	632	22	4		4	DOHH	19	3491761	Missense_Mutation	SNP	C	C3N-00217_TP	2268773	3491761	55125855	553	12991											
CD70	0	.	GRCh38	chr19	6590899	6590899	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcgctggatgcacaccAcgaggcagatcaccaagccc	12	3	11	15	3	1	1	1	0	0	1	1	4	1	2	3	2	3	3	3	2	2	0	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.104T>C	p.Val35Ala	p.V35A	ENST00000245903	1/3	75	47	28	109	108	1	strelka-varscan-mutect	CD70,missense_variant,p.Val35Ala,ENST00000245903,NM_001252.4;CD70,missense_variant,p.Val35Ala,ENST00000423145,;CD70,missense_variant,p.Val35Ala,ENST00000597430,;RPL7P50,upstream_gene_variant,,ENST00000600588,;	G	ENST00000245903	Transcript	missense_variant	254/913	104/582	35/193	V/A	gTg/gCg		1		-1	CD70	HGNC	HGNC:11937	protein_coding	YES	CCDS12170.1	ENSP00000245903	P32970	A0A0U5JA32	UPI00001370B6	NM_001252.4	tolerated(0.59)		1/3		Transmembrane_helices:TMhelix,hmmpanther:PTHR15152:SF0,hmmpanther:PTHR15152																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	6590899	6590899	A	G	1	0	0	0	0	1	0	0	0	2737	159	6	5		5	CD70	19	6590899	Missense_Mutation	SNP	A	C3N-00217_TP	3099138	6590899	52026717	554	12992											
ZNF358	0	.	GRCh38	chr19	7520550	7520550	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgaggccggggcaggtctcCctcctgggtcctgatgctgt	4	10	15	12	1	1	2	0	2	1	0	4	2	3	2	4	5	1	2	4	5	0	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1308C>T	p.=	p.S436S	ENST00000597229	2/2	133	72	61	172	172	0	strelka-varscan-mutect	ZNF358,synonymous_variant,p.=,ENST00000597229,NM_018083.4;MCOLN1,upstream_gene_variant,,ENST00000264079,NM_020533.2;MCOLN1,upstream_gene_variant,,ENST00000601003,;ZNF358,downstream_gene_variant,,ENST00000596712,;CTD-2207O23.12,downstream_gene_variant,,ENST00000599312,;CTD-2207O23.11,upstream_gene_variant,,ENST00000602083,;MCOLN1,upstream_gene_variant,,ENST00000394321,;MCOLN1,upstream_gene_variant,,ENST00000596390,;CTD-2207O23.12,downstream_gene_variant,,ENST00000597384,;	T	ENST00000597229	Transcript	synonymous_variant	1478/1954	1308/1707	436/568	S	tcC/tcT		1		1	ZNF358	HGNC	HGNC:16838	protein_coding	YES	CCDS32890.2	ENSP00000472305	Q9NW07		UPI0000201F0C	NM_018083.4			2/2																			LOW		SNV	2			1										PASS		.	.												T	2	4	43	7520550	7520550	C	T	1	0	0	0	0	0	0	0	1	18439	610	22	3		3	ZNF358	19	7520550	Silent	SNP	C	C3N-00217_TP	929651	7520550	51097066	555	12993											
CAMSAP3	0	.	GRCh38	chr19	7610553	7610553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggatttctgtgcctctCgccttcctcgtggctgcccc	2	13	10	16	2	2	0	0	0	2	0	5	1	3	1	5	2	3	2	5	2	0	2	rs762865565		C3N-00217_TP	C3N-00217_NB	C	C																c.919C>A	p.Arg307Ser	p.R307S	ENST00000446248	8/19	134	77	57	147	147	0	strelka-varscan-mutect	CAMSAP3,missense_variant,p.Arg307Ser,ENST00000446248,NM_001080429.2;CAMSAP3,missense_variant,p.Arg280Ser,ENST00000160298,NM_020902.1;CAMSAP3,upstream_gene_variant,,ENST00000595692,;	A	ENST00000446248	Transcript	missense_variant	1020/4179	919/3831	307/1276	R/S	Cgc/Agc	rs762865565	1		1	CAMSAP3	HGNC	HGNC:29307	protein_coding	YES	CCDS45947.1	ENSP00000416797	Q9P1Y5		UPI0000161861	NM_001080429.2	tolerated(0.61)		8/19		hmmpanther:PTHR21595:SF2,hmmpanther:PTHR21595,Pfam_domain:PF11971,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		rs762865565	.												A	3	1	43	7610553	7610553	C	A	1	0	0	0	0	1	0	0	0	2305	884	31	1		1	CAMSAP3	19	7610553	Missense_Mutation	SNP	C	C3N-00217_TP	90003	7610553	51007063	556	12994											
KEAP1	0	.	GRCh38	chr19	10491872	10491872	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccgtcactggggttgtaagCctccaggtagctgagcgact	7	9	14	11	2	1	1	1	1	0	0	2	2	2	1	3	3	3	4	3	3	2	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1030G>T	p.Ala344Ser	p.A344S	ENST00000171111	3/6	149	79	70	199	199	0	strelka-varscan-mutect	KEAP1,missense_variant,p.Ala344Ser,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Ala344Ser,ENST00000393623,NM_012289.3;KEAP1,upstream_gene_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000592055,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,downstream_gene_variant,,ENST00000588024,;KEAP1,missense_variant,p.Ala4Ser,ENST00000590593,;KEAP1,downstream_gene_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590237,;	A	ENST00000171111	Transcript	missense_variant	1578/2955	1030/1875	344/624	A/S	Gct/Tct		1		-1	KEAP1	HGNC	HGNC:23177	protein_coding	YES	CCDS12239.1	ENSP00000171111	Q14145	A0A024R7C0	UPI000007139C	NM_203500.1	tolerated(0.09)		3/6		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	10491872	10491872	C	A	1	0	0	0	0	1	0	0	0	8061	739	26	2		2	KEAP1	19	10491872	Missense_Mutation	SNP	C	C3N-00217_TP	2881319	10491872	48125744	557	12995											
ZNF709	0	.	GRCh38	chr19	12464516	12464516	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggtttctctccagtgtgaAttctttcatgcattcgaaag	9	15	9	8	1	3	1	1	1	2	0	6	2	4	1	1	1	1	2	1	1	2	4	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1406T>C	p.Ile469Thr	p.I469T	ENST00000397732	4/4	63	58	5	142	142	0	varscan-mutect	ZNF709,missense_variant,p.Ile469Thr,ENST00000397732,NM_152601.3;CTD-2192J16.17,missense_variant,p.Ile469Thr,ENST00000428311,;ZNF709,downstream_gene_variant,,ENST00000455490,;CTD-3105H18.7,downstream_gene_variant,,ENST00000420038,;CTD-3105H18.18,intron_variant,,ENST00000598753,;	G	ENST00000397732	Transcript	missense_variant	1578/4910	1406/1926	469/641	I/T	aTt/aCt		1		-1	ZNF709	HGNC	HGNC:20629	protein_coding	YES	CCDS42504.1	ENSP00000380840	Q8N972		UPI000006CF50	NM_152601.3	tolerated(1)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs878940953	.												G	3	3	43	12464516	12464516	A	G	1	0	0	0	0	1	0	0	0	18688	101	4	5		5	ZNF709	19	12464516	Missense_Mutation	SNP	A	C3N-00217_TP	1972644	12464516	46153100	558	12996											
ZNF709	0	.	GRCh38	chr19	12464592	12464592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcatagggtttctctcCagtgtgagtcctttcatgta	8	16	8	9	0	3	1	2	1	1	0	6	1	5	1	2	1	0	2	2	1	2	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1330G>A	p.Gly444Arg	p.G444R	ENST00000397732	4/4	61	39	22	140	140	0	strelka-varscan-mutect	ZNF709,missense_variant,p.Gly444Arg,ENST00000397732,NM_152601.3;CTD-2192J16.17,missense_variant,p.Gly444Arg,ENST00000428311,;ZNF709,downstream_gene_variant,,ENST00000455490,;CTD-3105H18.7,downstream_gene_variant,,ENST00000420038,;CTD-3105H18.18,intron_variant,,ENST00000598753,;	T	ENST00000397732	Transcript	missense_variant	1502/4910	1330/1926	444/641	G/R	Gga/Aga		1		-1	ZNF709	HGNC	HGNC:20629	protein_coding	YES	CCDS42504.1	ENSP00000380840	Q8N972		UPI000006CF50	NM_152601.3	deleterious(0.03)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24379,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	12464592	12464592	C	T	1	0	0	0	0	1	0	0	0	18688	603	21	3		3	ZNF709	19	12464592	Missense_Mutation	SNP	C	C3N-00217_TP	76	12464592	46153024	559	12997											
CYP4F22	0	.	GRCh38	chr19	15548150	15548150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacaactatgtgcattaaGgagagcctgcgccagtaccc	11	10	9	11	1	0	1	0	0	0	1	0	2	0	1	3	1	6	2	3	1	5	5	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1179G>T	p.Lys393Asn	p.K393N	ENST00000269703	11/14	364	218	146	521	520	1	strelka-varscan-mutect	CYP4F22,missense_variant,p.Lys393Asn,ENST00000269703,NM_173483.3;CYP4F22,missense_variant,p.Lys393Asn,ENST00000601005,;	T	ENST00000269703	Transcript	missense_variant	1378/2641	1179/1596	393/531	K/N	aaG/aaT		1		1	CYP4F22	HGNC	HGNC:26820	protein_coding	YES	CCDS12331.1	ENSP00000269703	Q6NT55		UPI000013D84B	NM_173483.3	deleterious(0)		11/14		Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00385,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF53,Superfamily_domains:SSF48264																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	43	15548150	15548150	G	T	1	0	0	0	0	1	0	0	0	3992	991	35	2		2	CYP4F22	19	15548150	Missense_Mutation	SNP	G	C3N-00217_TP	3083558	15548150	43069466	560	12998											
TMEM38A	0	.	GRCh38	chr19	16661301	16661301	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccccgtcttcgacctcagTtacttcatcgtctccatcct	5	15	4	17	3	4	0	2	0	2	0	9	1	6	0	5	0	1	1	5	0	1	4	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.84T>G	p.Ser28Arg	p.S28R	ENST00000187762	1/6	133	104	29	140	140	0	strelka-varscan-mutect	TMEM38A,missense_variant,p.Ser28Arg,ENST00000187762,NM_024074.1;TMEM38A,missense_variant,p.Ser14Arg,ENST00000599479,;SMIM7,upstream_gene_variant,,ENST00000487416,NM_024104.3;SMIM7,upstream_gene_variant,,ENST00000627144,;SMIM7,upstream_gene_variant,,ENST00000597711,;SMIM7,upstream_gene_variant,,ENST00000358726,NM_001300925.1;CTC-429P9.4,upstream_gene_variant,,ENST00000593459,;SMIM7,upstream_gene_variant,,ENST00000397349,;SMIM7,upstream_gene_variant,,ENST00000461364,;CTC-429P9.4,upstream_gene_variant,,ENST00000593962,;SMIM7,upstream_gene_variant,,ENST00000594507,;TMEM38A,non_coding_transcript_exon_variant,,ENST00000595452,;SMIM7,upstream_gene_variant,,ENST00000487803,;SMIM7,upstream_gene_variant,,ENST00000593409,;SMIM7,upstream_gene_variant,,ENST00000465250,;SMIM7,upstream_gene_variant,,ENST00000481671,;SMIM7,upstream_gene_variant,,ENST00000599310,;SMIM7,upstream_gene_variant,,ENST00000594662,;SMIM7,upstream_gene_variant,,ENST00000593404,;SMIM7,upstream_gene_variant,,ENST00000597781,;CTC-429P9.4,upstream_gene_variant,,ENST00000600705,;SMIM7,upstream_gene_variant,,ENST00000598278,;SMIM7,upstream_gene_variant,,ENST00000463051,;SMIM7,upstream_gene_variant,,ENST00000600740,;SMIM7,upstream_gene_variant,,ENST00000461488,;CTC-429P9.4,upstream_gene_variant,,ENST00000593991,;SMIM7,upstream_gene_variant,,ENST00000602194,;CTC-429P9.4,upstream_gene_variant,,ENST00000594509,;CTC-429P9.4,upstream_gene_variant,,ENST00000601636,;CTC-429P9.4,upstream_gene_variant,,ENST00000595505,;	G	ENST00000187762	Transcript	missense_variant	175/2649	84/900	28/299	S/R	agT/agG		1		1	TMEM38A	HGNC	HGNC:28462	protein_coding	YES	CCDS12349.1	ENSP00000187762	Q9H6F2		UPI000006E0B9	NM_024074.1	deleterious(0)		1/6		hmmpanther:PTHR12454,hmmpanther:PTHR12454:SF3,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	16661301	16661301	T	G	1	0	0	0	0	1	0	0	0	16636	1722	60	5		5	TMEM38A	19	16661301	Missense_Mutation	SNP	T	C3N-00217_TP	1113151	16661301	41956315	561	12999											
NCAN	0	.	GRCh38	chr19	19228255	19228255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctcacgaccctggagcagGgggacaaggttggagttcca	9	6	14	12	1	1	0	1	0	0	0	2	4	2	3	3	5	1	3	3	5	1	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.2635G>T	p.Gly879Trp	p.G879W	ENST00000252575	8/15	112	63	49	145	144	1	strelka-varscan-mutect	NCAN,missense_variant,p.Gly879Trp,ENST00000252575,NM_004386.2;RNU6-1028P,upstream_gene_variant,,ENST00000517164,;NCAN,non_coding_transcript_exon_variant,,ENST00000590187,;	T	ENST00000252575	Transcript	missense_variant	2734/6387	2635/3966	879/1321	G/W	Ggg/Tgg		1		1	NCAN	HGNC	HGNC:2465	protein_coding	YES	CCDS12397.1	ENSP00000252575	O14594	A0A024R7M3	UPI000013CD70	NM_004386.2	deleterious(0.01)		8/15		hmmpanther:PTHR22804:SF24,hmmpanther:PTHR22804																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	19228255	19228255	G	T	1	0	0	0	0	1	0	0	0	10220	1232	43	2		2	NCAN	19	19228255	Missense_Mutation	SNP	G	C3N-00217_TP	2566954	19228255	39389361	562	13000											
ZNF676	0	.	GRCh38	chr19	22180153	22180153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatgaattatcttatgttCagtaaggatcgaggaccagc	13	12	10	6	1	2	1	1	1	1	0	3	4	2	3	1	2	1	3	1	2	5	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1564G>A	p.Glu522Lys	p.E522K	ENST00000397121	3/3	124	116	8	275	273	2	varscan-mutect	ZNF676,missense_variant,p.Glu522Lys,ENST00000397121,NM_001001411.2;VN1R85P,upstream_gene_variant,,ENST00000601587,;	T	ENST00000397121	Transcript	missense_variant	1882/2944	1564/1767	522/588	E/K	Gaa/Aaa		1		-1	ZNF676	HGNC	HGNC:20429	protein_coding	YES	CCDS42539.1	ENSP00000380310	Q8N7Q3		UPI00002376EC	NM_001001411.2	tolerated(1)		3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF112,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	43	22180153	22180153	C	T	1	0	0	0	0	1	0	0	0	18656	835	29	3		3	ZNF676	19	22180153	Missense_Mutation	SNP	C	C3N-00217_TP	2951898	22180153	36437463	563	13001											
ZNF99	0	.	GRCh38	chr19	22758882	22758882	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttgccacattcttcacAtttgtagggtttctttccag	7	17	7	10	0	3	0	1	0	2	0	4	0	4	0	2	1	2	3	2	1	1	7	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1027T>G	p.Cys343Gly	p.C343G	ENST00000596209	4/4	112	72	40	305	305	0	strelka-varscan-mutect	ZNF99,missense_variant,p.Cys343Gly,ENST00000596209,NM_001080409.2;ZNF99,missense_variant,p.Cys252Gly,ENST00000397104,;	C	ENST00000596209	Transcript	missense_variant	1118/7817	1027/2595	343/864	C/G	Tgt/Ggt		1		-1	ZNF99	HGNC	HGNC:13175	protein_coding	YES	CCDS59369.1	ENSP00000472969	A8MXY4		UPI0000426011	NM_001080409.2	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	43	22758882	22758882	A	C	1	0	0	0	0	1	0	0	0	18797	217	8	5		5	ZNF99	19	22758882	Missense_Mutation	SNP	A	C3N-00217_TP	578729	22758882	35858734	564	13002											
ZNF730	0	.	GRCh38	chr19	23134175	23134175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatttatatagaaatgtaatGttagataactacagaaacct	19	13	5	4	0	0	3	0	0	0	3	0	3	0	3	1	0	3	2	1	0	10	8			C3N-00217_TP	C3N-00217_NB	G	G																c.99G>T	p.Met33Ile	p.M33I	ENST00000597761	2/4	86	54	32	143	143	0	strelka-varscan-mutect	ZNF730,start_lost,p.Met1?,ENST00000593635,;ZNF730,missense_variant,p.Met33Ile,ENST00000597761,NM_001277403.1;ZNF730,upstream_gene_variant,,ENST00000599195,;	T	ENST00000597761	Transcript	missense_variant	298/2374	99/1512	33/503	M/I	atG/atT	COSM994052	1		1	ZNF730	HGNC	HGNC:32470	protein_coding	YES	CCDS59371.1	ENSP00000472959	Q6ZMV8		UPI000035E7F4	NM_001277403.1	deleterious(0.03)		2/4		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF110,SMART_domains:SM00349											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	43	23134175	23134175	G	T	1	0	0	0	0	1	0	0	0	18704	1377	48	2		2	ZNF730	19	23134175	Missense_Mutation	SNP	G	C3N-00217_TP	375293	23134175	35483441	565	13003											
TSHZ3	0	.	GRCh38	chr19	31277575	31277575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtccagggcaggcagggAgggcttggcggccttgccca	5	5	20	11	1	0	0	0	0	0	0	1	1	1	1	3	8	1	3	3	8	0	2	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.2218T>C	p.Ser740Pro	p.S740P	ENST00000240587	2/2	36	19	17	28	28	0	strelka-varscan-mutect	TSHZ3,missense_variant,p.Ser740Pro,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;	G	ENST00000240587	Transcript	missense_variant	2546/5176	2218/3246	740/1081	S/P	Tcc/Ccc		1		-1	TSHZ3	HGNC	HGNC:30700	protein_coding	YES	CCDS12421.2	ENSP00000240587	Q63HK5		UPI0000202000	NM_020856.2	tolerated(0.12)		2/2		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	31277575	31277575	A	G	1	0	0	0	0	1	0	0	0	17130	304	11	5		5	TSHZ3	19	31277575	Missense_Mutation	SNP	A	C3N-00217_TP	8143400	31277575	27340041	566	13004											
ZNF599	0	.	GRCh38	chr19	34760534	34760534	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgagaagcagtaggctcTgtaatcttgggttttgcttt	8	15	12	6	0	2	1	0	1	2	1	2	2	2	1	0	2	3	7	0	2	3	6	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.267A>G	p.=	p.T89T	ENST00000329285	4/4	118	84	34	99	99	0	strelka-varscan-mutect	ZNF599,synonymous_variant,p.=,ENST00000329285,NM_001007248.2;ZNF599,downstream_gene_variant,,ENST00000587354,;	C	ENST00000329285	Transcript	synonymous_variant	641/3099	267/1767	89/588	T	acA/acG		1		-1	ZNF599	HGNC	HGNC:26408	protein_coding	YES	CCDS32991.1	ENSP00000333802	Q96NL3		UPI0000071186	NM_001007248.2			4/4		hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF20																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	43	34760534	34760534	T	C	1	0	0	0	0	0	0	0	1	18604	1567	55	5		5	ZNF599	19	34760534	Silent	SNP	T	C3N-00217_TP	3482959	34760534	23857082	567	13005											
HPN	0	.	GRCh38	chr19	35060805	35060805	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccacctctccagtcccCtgcccctcacaggtaagtct	6	10	7	18	0	3	0	1	0	2	0	6	0	5	0	7	2	1	1	7	2	1	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.799C>T	p.=	p.L267L	ENST00000262626	9/13	43	32	11	37	37	0	strelka-varscan-mutect	HPN,synonymous_variant,p.=,ENST00000262626,NM_182983.2;HPN,synonymous_variant,p.=,ENST00000392226,NM_002151.2;HPN,synonymous_variant,p.=,ENST00000597419,;HPN,downstream_gene_variant,,ENST00000600390,;HPN-AS1,intron_variant,,ENST00000392227,;HPN,downstream_gene_variant,,ENST00000600675,;HPN,non_coding_transcript_exon_variant,,ENST00000593305,;HPN,non_coding_transcript_exon_variant,,ENST00000599363,;HPN,non_coding_transcript_exon_variant,,ENST00000541345,;HPN,downstream_gene_variant,,ENST00000596662,;	T	ENST00000262626	Transcript	synonymous_variant	1624/2363	799/1254	267/417	L	Ctg/Ttg		1		1	HPN	HGNC	HGNC:5155	protein_coding	YES	CCDS32993.1	ENSP00000262626	P05981	A0A140VJK9	UPI000003FE67	NM_182983.2			9/13		Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF130,SMART_domains:SM00020,Superfamily_domains:SSF50494																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	35060805	35060805	C	T	1	0	0	0	0	0	0	0	1	7231	680	24	3		3	HPN	19	35060805	Silent	SNP	C	C3N-00217_TP	300271	35060805	23556811	568	13006											
ZNF568	0	.	GRCh38	chr19	36997282	36997282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacatcagagtgtccatactGgggagaaaccctgtaagtgt	12	9	12	8	0	1	2	1	0	0	2	2	4	2	2	2	2	2	1	2	2	3	2			C3N-00217_TP	C3N-00217_NB	G	G																c.1591G>T	p.Gly531Trp	p.G531W	ENST00000617745	8/8	140	92	48	168	168	0	strelka-varscan-mutect	ZNF568,missense_variant,p.Gly531Trp,ENST00000617745,NM_001204838.1;ZNF568,missense_variant,p.Gly467Trp,ENST00000455427,NM_001204839.1;ZNF568,missense_variant,p.Gly531Trp,ENST00000444991,;ZNF568,downstream_gene_variant,,ENST00000433993,;ZNF568,downstream_gene_variant,,ENST00000455817,;ZNF568,downstream_gene_variant,,ENST00000588596,;ZNF568,non_coding_transcript_exon_variant,,ENST00000591887,;	T	ENST00000617745	Transcript	missense_variant	1791/2441	1591/1908	531/635	G/W	Ggg/Tgg	COSM3734961	1		1	ZNF568	HGNC	HGNC:25392	protein_coding		CCDS74351.1	ENSP00000482444		A0A087WZ84	UPI0001FD28F8	NM_001204838.1	deleterious(0)		8/8		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF107,Low_complexity_(Seg):seg,Superfamily_domains:SSF57667											1						MODERATE		SNV	5		1	1										PASS		rs1261514973	.												T	3	4	43	36997282	36997282	G	T	1	0	0	0	0	1	0	0	0	18573	1348	47	2		2	ZNF568	19	36997282	Missense_Mutation	SNP	G	C3N-00217_TP	1936477	36997282	21620334	569	13007											
CATSPERG	0	.	GRCh38	chr19	38356843	38356843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgcaagtaaacgtttccagGtggtcagctacaacacaggt	13	9	10	9	1	1	0	1	0	0	0	2	0	2	0	1	3	5	4	1	3	5	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1297G>A	p.Val433Met	p.V433M	ENST00000409235	11/29	140	96	44	101	101	0	strelka-varscan-mutect	CATSPERG,missense_variant,p.Val433Met,ENST00000409235,NM_021185.4;CATSPERG,missense_variant,p.Val433Met,ENST00000409410,;CATSPERG,intron_variant,,ENST00000410018,;CATSPERG,intron_variant,,ENST00000489693,;AC005625.1,downstream_gene_variant,,ENST00000590304,;CATSPERG,intron_variant,,ENST00000466060,;CATSPERG,3_prime_UTR_variant,,ENST00000471517,;CATSPERG,3_prime_UTR_variant,,ENST00000312265,;CATSPERG,3_prime_UTR_variant,,ENST00000412458,;CATSPERG,upstream_gene_variant,,ENST00000470292,;CATSPERG,upstream_gene_variant,,ENST00000585424,;	A	ENST00000409235	Transcript	missense_variant	1412/3746	1297/3480	433/1159	V/M	Gtg/Atg		1		1	CATSPERG	HGNC	HGNC:25243	protein_coding	YES	CCDS12514.2	ENSP00000386962	Q6ZRH7		UPI000022A813	NM_021185.4	tolerated(0.05)		11/29		Pfam_domain:PF15064,hmmpanther:PTHR14327																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	43	38356843	38356843	G	A	1	0	0	0	0	1	0	0	0	2393	1261	44	3		3	CATSPERG	19	38356843	Missense_Mutation	SNP	G	C3N-00217_TP	1359561	38356843	20260773	570	13008											
GGN	0	.	GRCh38	chr19	38386456	38386456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccgccgcctccgccgcccCccagcgaagctttggctgct	3	6	12	20	5	0	0	0	0	0	0	1	1	1	0	8	2	3	3	8	2	1	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.806G>T	p.Gly269Val	p.G269V	ENST00000334928	3/4	243	183	60	205	205	0	strelka-varscan-mutect	GGN,missense_variant,p.Gly269Val,ENST00000334928,NM_152657.3;SPRED3,upstream_gene_variant,,ENST00000338502,NM_001042522.2;PSMD8,downstream_gene_variant,,ENST00000592035,;PSMD8,downstream_gene_variant,,ENST00000215071,;SPRED3,upstream_gene_variant,,ENST00000587013,;PSMD8,downstream_gene_variant,,ENST00000620216,NM_002812.4;SPRED3,upstream_gene_variant,,ENST00000586301,;PSMD8,downstream_gene_variant,,ENST00000602911,;PSMD8,downstream_gene_variant,,ENST00000592561,;SPRED3,upstream_gene_variant,,ENST00000587947,;PSMD8,downstream_gene_variant,,ENST00000585598,;GGN,downstream_gene_variant,,ENST00000587676,;GGN,downstream_gene_variant,,ENST00000586599,;AC005789.9,intron_variant,,ENST00000585411,;GGN,intron_variant,,ENST00000591809,;SPRED3,upstream_gene_variant,,ENST00000587564,;GGN,missense_variant,p.Gly186Val,ENST00000585737,;SPRED3,upstream_gene_variant,,ENST00000586958,;PSMD8,downstream_gene_variant,,ENST00000590331,;	A	ENST00000334928	Transcript	missense_variant	939/2239	806/1959	269/652	G/V	gGg/gTg		1		-1	GGN	HGNC	HGNC:18869	protein_coding	YES	CCDS12516.1	ENSP00000334940	Q86UU5		UPI0000073CAB	NM_152657.3	deleterious_low_confidence(0.04)		3/4		Low_complexity_(Seg):seg,hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF24,Pfam_domain:PF15685																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	38386456	38386456	C	A	1	0	0	0	0	1	0	0	0	6234	623	22	2		2	GGN	19	38386456	Missense_Mutation	SNP	C	C3N-00217_TP	29613	38386456	20231160	571	13009											
AKT2	0	.	GRCh38	chr19	40233917	40233917	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagaactgggggaagtgggtCcgctggtccagctccagtaa	9	7	16	9	1	0	1	0	0	0	1	3	3	3	2	3	4	2	3	3	4	3	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1401G>A	p.=	p.R467R	ENST00000392038	14/14	122	83	39	90	90	0	strelka-varscan-mutect	AKT2,synonymous_variant,p.=,ENST00000392038,NM_001626.5;AKT2,synonymous_variant,p.=,ENST00000424901,;AKT2,synonymous_variant,p.=,ENST00000311278,;AKT2,3_prime_UTR_variant,,ENST00000476247,;AKT2,3_prime_UTR_variant,,ENST00000497948,;AKT2,downstream_gene_variant,,ENST00000579047,NM_001243027.2,NM_001243028.2;AKT2,downstream_gene_variant,,ENST00000578615,;AKT2,downstream_gene_variant,,ENST00000578310,;AKT2,downstream_gene_variant,,ENST00000391845,;AKT2,downstream_gene_variant,,ENST00000480878,;AKT2,downstream_gene_variant,,ENST00000486647,;AKT2,3_prime_UTR_variant,,ENST00000391844,;AKT2,3_prime_UTR_variant,,ENST00000584288,;AKT2,3_prime_UTR_variant,,ENST00000489375,;AKT2,non_coding_transcript_exon_variant,,ENST00000483166,;AKT2,non_coding_transcript_exon_variant,,ENST00000476266,;AKT2,non_coding_transcript_exon_variant,,ENST00000496089,;AKT2,downstream_gene_variant,,ENST00000580878,;AKT2,downstream_gene_variant,,ENST00000579345,;AKT2,downstream_gene_variant,,ENST00000601166,;AKT2,downstream_gene_variant,,ENST00000578282,;	T	ENST00000392038	Transcript	synonymous_variant	1700/5300	1401/1446	467/481	R	cgG/cgA		1		-1	AKT2	HGNC	HGNC:392	protein_coding	YES	CCDS12552.1	ENSP00000375892	P31751		UPI0000049EDB	NM_001626.5			14/14		Pfam_domain:PF00433,PROSITE_profiles:PS51285,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF176,SMART_domains:SM00133																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	40233917	40233917	C	T	1	0	0	0	0	0	0	0	1	563	842	30	3		3	AKT2	19	40233917	Silent	SNP	C	C3N-00217_TP	1847461	40233917	18383699	572	13010											
AKT2	0	.	GRCh38	chr19	40242626	40242626	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtagtccatggggtcctCgcctggggcccgctgcttga	3	11	14	13	2	0	1	0	1	0	0	3	1	2	1	4	4	1	3	4	4	1	3	rs148339167		C3N-00217_TP	C3N-00217_NB	C	C																c.349G>T	p.Glu117Ter	p.E117*	ENST00000392038	5/14	291	195	96	217	217	0	strelka-varscan-mutect	AKT2,stop_gained,p.Glu117Ter,ENST00000392038,NM_001626.5;AKT2,stop_gained,p.Glu117Ter,ENST00000424901,;AKT2,stop_gained,p.Glu55Ter,ENST00000579047,NM_001243027.2,NM_001243028.2;AKT2,stop_gained,p.Glu117Ter,ENST00000311278,;AKT2,stop_gained,p.Glu117Ter,ENST00000416362,;AKT2,stop_gained,p.Glu117Ter,ENST00000441941,;AKT2,stop_gained,p.Glu117Ter,ENST00000423127,;AKT2,stop_gained,p.Glu117Ter,ENST00000392037,;AKT2,stop_gained,p.Glu117Ter,ENST00000486368,;AKT2,stop_gained,p.Glu117Ter,ENST00000596634,;AKT2,stop_gained,p.Glu117Ter,ENST00000452077,;AKT2,stop_gained,p.Glu117Ter,ENST00000578123,;AKT2,upstream_gene_variant,,ENST00000578615,;AKT2,downstream_gene_variant,,ENST00000456441,;AKT2,downstream_gene_variant,,ENST00000583859,;AKT2,downstream_gene_variant,,ENST00000358335,;AKT2,upstream_gene_variant,,ENST00000578310,;AKT2,upstream_gene_variant,,ENST00000391845,;AKT2,upstream_gene_variant,,ENST00000480878,;AKT2,stop_gained,p.Glu28Ter,ENST00000601166,;AKT2,missense_variant,p.Arg58Leu,ENST00000391844,;AKT2,missense_variant,p.Arg58Leu,ENST00000584288,;AKT2,missense_variant,p.Arg58Leu,ENST00000492463,;AKT2,3_prime_UTR_variant,,ENST00000491778,;AKT2,non_coding_transcript_exon_variant,,ENST00000578975,;AKT2,non_coding_transcript_exon_variant,,ENST00000476266,;AKT2,non_coding_transcript_exon_variant,,ENST00000537834,;AKT2,non_coding_transcript_exon_variant,,ENST00000487537,;AKT2,upstream_gene_variant,,ENST00000483166,;AKT2,upstream_gene_variant,,ENST00000496089,;AKT2,upstream_gene_variant,,ENST00000580878,;AKT2,upstream_gene_variant,,ENST00000579345,;AKT2,upstream_gene_variant,,ENST00000578282,;	A	ENST00000392038	Transcript	stop_gained	648/5300	349/1446	117/481	E/*	Gag/Tag	rs148339167	1		-1	AKT2	HGNC	HGNC:392	protein_coding	YES	CCDS12552.1	ENSP00000375892	P31751		UPI0000049EDB	NM_001626.5			5/14		hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF176																	HIGH	1	SNV	1			1										PASS		rs148339167	.												A	4	1	43	40242626	40242626	C	A	1	0	0	0	0	0	1	0	0	563	893	31	1		1	AKT2	19	40242626	Nonsense_Mutation	SNP	C	C3N-00217_TP	8709	40242626	18374990	573	13011											
NUMBL	0	.	GRCh38	chr19	40673346	40673346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggcccagggctcacctGtgcccttcacctggaagtca	7	8	11	15	0	3	0	3	0	0	0	3	1	3	1	4	3	1	1	4	3	1	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1034C>T	p.Thr345Ile	p.T345I	ENST00000252891	8/10	54	34	20	56	56	0	strelka-varscan-mutect	NUMBL,missense_variant,p.Thr345Ile,ENST00000252891,NM_004756.4;NUMBL,missense_variant,p.Thr304Ile,ENST00000598779,NM_001289979.1;NUMBL,missense_variant,p.Thr304Ile,ENST00000540131,NM_001289980.1;NUMBL,downstream_gene_variant,,ENST00000598773,;NUMBL,downstream_gene_variant,,ENST00000600967,;NUMBL,downstream_gene_variant,,ENST00000593367,;	A	ENST00000252891	Transcript	missense_variant,splice_region_variant	1202/3561	1034/1830	345/609	T/I	aCa/aTa		1		-1	NUMBL	HGNC	HGNC:8061	protein_coding	YES	CCDS12561.1	ENSP00000252891	Q9Y6R0		UPI000003032B	NM_004756.4	tolerated(0.05)		8/10		Pfam_domain:PF06311,PIRSF_domain:PIRSF017607,hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF32																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	40673346	40673346	G	A	1	0	0	0	0	1	0	0	0	10817	1391	48	3		3	NUMBL	19	40673346	Missense_Mutation	SNP	G	C3N-00217_TP	430720	40673346	17944270	574	13012											
CYP2S1	0	.	GRCh38	chr19	41197807	41197807	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctccaacggggagcggtgGaggcagctgaggaagtttac	9	8	16	8	2	1	1	0	1	1	0	2	4	1	4	1	6	4	3	1	6	3	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.372G>A	p.Trp124Ter	p.W124*	ENST00000310054	3/9	298	204	94	236	235	1	strelka-varscan-mutect	CYP2S1,stop_gained,p.Trp124Ter,ENST00000310054,NM_030622.7;CYP2S1,stop_gained,p.Trp124Ter,ENST00000600561,;CYP2S1,intron_variant,,ENST00000597754,;CYP2S1,upstream_gene_variant,,ENST00000593890,;CYP2S1,intron_variant,,ENST00000593545,;CYP2S1,intron_variant,,ENST00000595590,;	A	ENST00000310054	Transcript	stop_gained	588/2782	372/1515	124/504	W/*	tgG/tgA		1		1	CYP2S1	HGNC	HGNC:15654	protein_coding	YES	CCDS12573.1	ENSP00000308032	Q96SQ9		UPI00000467C9	NM_030622.7			3/9		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF23,Superfamily_domains:SSF48264																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	43	41197807	41197807	G	A	1	0	0	0	0	0	1	0	0	3977	1183	41	3		3	CYP2S1	19	41197807	Nonsense_Mutation	SNP	G	C3N-00217_TP	524461	41197807	17419809	575	13013											
PSG9	0	.	GRCh38	chr19	43268089	43268089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccctcagaaactttgggtGgctgggcttcaatcgtgact	7	12	11	11	1	2	2	2	1	0	1	4	2	3	2	2	3	1	2	2	3	2	2	rs374733593		C3N-00217_TP	C3N-00217_NB	G	G																c.125C>A	p.Pro42Gln	p.P42Q	ENST00000270077	2/6	76	52	24	74	74	0	varscan-mutect	PSG9,missense_variant,p.Pro42Gln,ENST00000244293,;PSG9,missense_variant,p.Pro42Gln,ENST00000621109,;PSG9,missense_variant,p.Pro42Gln,ENST00000596730,;PSG9,missense_variant,p.Pro42Gln,ENST00000418820,;PSG9,missense_variant,p.Pro42Gln,ENST00000270077,NM_002784.4;PSG9,missense_variant,p.Pro42Gln,ENST00000593948,NM_001301708.1;PSG9,missense_variant,p.Pro42Gln,ENST00000443718,NM_001301707.1;PSG9,missense_variant,p.Pro42Gln,ENST00000291752,NM_001301709.1;	T	ENST00000270077	Transcript	missense_variant	222/1705	125/1281	42/426	P/Q	cCa/cAa	rs374733593	1		-1	PSG9	HGNC	HGNC:9526	protein_coding	YES	CCDS12618.1	ENSP00000270077	Q00887		UPI00001327A5	NM_002784.4	deleterious(0)		2/6		Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs374733593	.												T	3	4	43	43268089	43268089	G	T	1	0	0	0	0	1	0	0	0	12813	1348	47	2		2	PSG9	19	43268089	Missense_Mutation	SNP	G	C3N-00217_TP	2070282	43268089	15349527	576	13014											
HIF3A	0	.	GRCh38	chr19	46309192	46309192	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagggcctacaagccaccTgcgcagacttctccagctgg	9	7	11	14	1	1	2	0	1	1	1	2	2	1	2	4	2	4	2	4	2	2	2	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.603T>A	p.=	p.P201P	ENST00000377670	6/15	164	122	42	177	177	0	strelka-varscan-mutect	HIF3A,synonymous_variant,p.=,ENST00000377670,NM_152795.3;HIF3A,synonymous_variant,p.=,ENST00000300862,NM_152794.3;HIF3A,synonymous_variant,p.=,ENST00000244303,NM_022462.4;HIF3A,synonymous_variant,p.=,ENST00000600383,;HIF3A,synonymous_variant,p.=,ENST00000472815,NM_152796.2;HIF3A,downstream_gene_variant,,ENST00000533145,;RNU6-924P,upstream_gene_variant,,ENST00000362926,;HIF3A,non_coding_transcript_exon_variant,,ENST00000525854,;HIF3A,3_prime_UTR_variant,,ENST00000528563,;HIF3A,3_prime_UTR_variant,,ENST00000533789,;HIF3A,non_coding_transcript_exon_variant,,ENST00000244302,;HIF3A,non_coding_transcript_exon_variant,,ENST00000291300,;HIF3A,non_coding_transcript_exon_variant,,ENST00000475432,;HIF3A,non_coding_transcript_exon_variant,,ENST00000529205,;HIF3A,downstream_gene_variant,,ENST00000600879,;HIF3A,upstream_gene_variant,,ENST00000531043,;HIF3A,downstream_gene_variant,,ENST00000526506,;	A	ENST00000377670	Transcript	synonymous_variant	634/5852	603/2010	201/669	P	ccT/ccA		1		1	HIF3A	HGNC	HGNC:15825	protein_coding	YES	CCDS12681.2	ENSP00000366898	Q9Y2N7		UPI00002026E2	NM_152795.3			6/15		hmmpanther:PTHR23043:SF18,hmmpanther:PTHR23043																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	43	46309192	46309192	T	A	1	0	0	0	0	0	0	0	1	6990	1567	55	4		4	HIF3A	19	46309192	Silent	SNP	T	C3N-00217_TP	3041103	46309192	12308424	577	13015											
RASIP1	0	.	GRCh38	chr19	48739471	48739471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcccagggcctcctgcgccGctggaccccgtggtcccggt	2	7	14	18	4	0	0	0	0	0	0	3	1	3	1	7	4	1	1	7	4	0	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.312C>A	p.Ser104Arg	p.S104R	ENST00000222145	3/12	152	104	48	111	111	0	strelka-varscan-mutect	RASIP1,missense_variant,p.Ser104Arg,ENST00000222145,NM_017805.2;IZUMO1,downstream_gene_variant,,ENST00000332955,NM_182575.2;RASIP1,upstream_gene_variant,,ENST00000599291,;IZUMO1,downstream_gene_variant,,ENST00000602105,;RASIP1,upstream_gene_variant,,ENST00000594232,;IZUMO1,downstream_gene_variant,,ENST00000597553,;IZUMO1,downstream_gene_variant,,ENST00000595937,NM_001321865.1;IZUMO1,downstream_gene_variant,,ENST00000595517,;IZUMO1,downstream_gene_variant,,ENST00000599871,;	T	ENST00000222145	Transcript	missense_variant	517/3308	312/2892	104/963	S/R	agC/agA		1		-1	RASIP1	HGNC	HGNC:24716	protein_coding	YES	CCDS12731.1	ENSP00000222145	Q5U651		UPI000020283D	NM_017805.2	tolerated(0.69)		3/12		hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	48739471	48739471	G	T	1	0	0	0	0	1	0	0	0	13239	1078	38	1		1	RASIP1	19	48739471	Missense_Mutation	SNP	G	C3N-00217_TP	2430279	48739471	9878145	578	13016											
IRF3	0	.	GRCh38	chr19	49664799	49664799	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccccaggtccagctgcgAcaccagccagggcaggatcc	8	5	12	16	1	0	0	0	0	0	0	2	2	2	1	6	3	4	2	6	3	0	1	rs748010879		C3N-00217_TP	C3N-00217_NB	A	A																c.40T>G	p.Ser14Ala	p.S14A	ENST00000601291	2/8	127	93	34	106	105	1	strelka-varscan-mutect	IRF3,missense_variant,p.Ser14Ala,ENST00000597198,;IRF3,missense_variant,p.Ser14Ala,ENST00000309877,;IRF3,missense_variant,p.Ser14Ala,ENST00000600911,;IRF3,missense_variant,p.Ser14Ala,ENST00000377139,NM_001571.5;IRF3,missense_variant,p.Ser14Ala,ENST00000601291,NM_001197122.1;IRF3,missense_variant,p.Ser14Ala,ENST00000598108,;IRF3,missense_variant,p.Ser14Ala,ENST00000599223,NM_001197124.1;IRF3,missense_variant,p.Ser14Ala,ENST00000596756,;IRF3,missense_variant,p.Ser14Ala,ENST00000601809,;IRF3,missense_variant,p.Ser14Ala,ENST00000600453,;IRF3,missense_variant,p.Ser14Ala,ENST00000593337,;IRF3,missense_variant,p.Ser14Ala,ENST00000442265,;IRF3,intron_variant,,ENST00000593922,NM_001197123.1;IRF3,intron_variant,,ENST00000598808,;IRF3,intron_variant,,ENST00000377135,NM_001197125.1;IRF3,intron_variant,,ENST00000599144,NM_001197126.1;IRF3,intron_variant,,ENST00000593818,;IRF3,intron_variant,,ENST00000600022,NM_001197127.1;IRF3,intron_variant,,ENST00000596822,;IRF3,intron_variant,,ENST00000595034,;IRF3,intron_variant,,ENST00000596765,NM_001197128.1;IRF3,intron_variant,,ENST00000601373,;BCL2L12,upstream_gene_variant,,ENST00000616144,NM_138639.1;BCL2L12,upstream_gene_variant,,ENST00000619007,NM_001282520.1,NM_001282516.1,NM_001282519.1;BCL2L12,upstream_gene_variant,,ENST00000246785,;BCL2L12,upstream_gene_variant,,ENST00000614495,NM_001282521.1;BCL2L12,upstream_gene_variant,,ENST00000441864,NM_001040668.1;BCL2L12,upstream_gene_variant,,ENST00000611631,;BCL2L12,upstream_gene_variant,,ENST00000246784,;BCL2L12,upstream_gene_variant,,ENST00000600947,;BCL2L12,upstream_gene_variant,,ENST00000594157,NM_001282517.1;BCL2L12,upstream_gene_variant,,ENST00000598306,;IRF3,intron_variant,,ENST00000597180,;IRF3,upstream_gene_variant,,ENST00000599680,;IRF3,upstream_gene_variant,,ENST00000602190,;IRF3,missense_variant,p.Ser14Ala,ENST00000597636,;IRF3,non_coding_transcript_exon_variant,,ENST00000594387,;BCL2L12,upstream_gene_variant,,ENST00000598979,;IRF3,upstream_gene_variant,,ENST00000595240,;IRF3,upstream_gene_variant,,ENST00000596644,;IRF3,upstream_gene_variant,,ENST00000597369,;IRF3,upstream_gene_variant,,ENST00000596788,;BCL2L12,upstream_gene_variant,,ENST00000601168,;	C	ENST00000601291	Transcript	missense_variant	220/1556	40/1359	14/452	S/A	Tcg/Gcg	rs748010879	1		-1	IRF3	HGNC	HGNC:6118	protein_coding	YES	CCDS59409.1	ENSP00000471896	Q14653		UPI000013CBFE	NM_001197122.1	tolerated(0.18)		2/8		PROSITE_profiles:PS51507,hmmpanther:PTHR11949:SF1,hmmpanther:PTHR11949,Gene3D:1.10.10.10,Pfam_domain:PF00605,SMART_domains:SM00348,Superfamily_domains:SSF46785,Prints_domain:PR00267																	MODERATE	1	SNV	1			1										PASS		rs748010879	.												C	3	2	43	49664799	49664799	A	C	1	0	0	0	0	1	0	0	0	7738	275	10	5		5	IRF3	19	49664799	Missense_Mutation	SNP	A	C3N-00217_TP	925328	49664799	8952817	579	13017											
CD33	0	.	GRCh38	chr19	51226033	51226033	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacctgtcaggtgaagttcGctggagctggtgtgactacg	7	11	15	8	2	1	3	1	3	0	0	2	4	1	4	1	3	2	3	1	3	2	2	rs150408980		C3N-00217_TP	C3N-00217_NB	G	G																c.649G>C	p.Ala217Pro	p.A217P	ENST00000262262	3/7	228	117	111	118	118	0	strelka-varscan-mutect	CD33,missense_variant,p.Ala90Pro,ENST00000436584,;CD33,missense_variant,p.Ala217Pro,ENST00000262262,NM_001772.3;CD33,missense_variant,p.Ala217Pro,ENST00000391796,NM_001177608.1;CD33,missense_variant,p.Ala90Pro,ENST00000421133,NM_001082618.1;CD33,non_coding_transcript_exon_variant,,ENST00000598473,;CD33,non_coding_transcript_exon_variant,,ENST00000601785,;	C	ENST00000262262	Transcript	missense_variant	670/1444	649/1095	217/364	A/P	Gct/Cct	rs150408980,COSM3404497	1		1	CD33	HGNC	HGNC:1659	protein_coding	YES	CCDS33084.1	ENSP00000262262	P20138	Q546G0	UPI000013D285	NM_001772.3	tolerated(1)		3/7		PROSITE_profiles:PS50835,hmmpanther:PTHR12035:SF52,hmmpanther:PTHR12035,Gene3D:2.60.40.10,Pfam_domain:PF00047,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs150408980	.												C	3	2	43	51226033	51226033	G	C	1	0	0	0	0	1	0	0	0	2709	1087	38	4		4	CD33	19	51226033	Missense_Mutation	SNP	G	C3N-00217_TP	1561234	51226033	7391583	580	13018											
NDUFA3	0	.	GRCh38	chr19	54105978	54105978	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacttcaagtactccgtcAtgatcaacaaggccacgccc	11	8	6	16	2	3	1	3	1	0	0	4	1	4	1	4	1	3	1	4	1	5	3	rs776295916		C3N-00217_TP	C3N-00217_NB	A	A																c.130A>C	p.Met44Leu	p.M44L	ENST00000485876	3/4	374	294	80	203	203	0	strelka-varscan-mutect	NDUFA3,start_lost,p.Met1?,ENST00000303553,;NDUFA3,missense_variant,p.Met44Leu,ENST00000485876,NM_004542.3;NDUFA3,missense_variant,p.Met44Leu,ENST00000471292,;NDUFA3,missense_variant,p.Met44Leu,ENST00000391762,;NDUFA3,missense_variant,p.Met6Leu,ENST00000420296,;NDUFA3,missense_variant,p.His47Pro,ENST00000391763,;NDUFA3,missense_variant,p.Met44Leu,ENST00000391764,;OSCAR,upstream_gene_variant,,ENST00000611261,NM_206818.2;OSCAR,upstream_gene_variant,,ENST00000284648,NM_001282349.1;OSCAR,upstream_gene_variant,,ENST00000616215,NM_001282350.1;OSCAR,upstream_gene_variant,,ENST00000617140,NM_130771.4;TFPT,downstream_gene_variant,,ENST00000391759,NM_013342.3;TFPT,downstream_gene_variant,,ENST00000391758,NM_001321792.1;TFPT,downstream_gene_variant,,ENST00000391757,;NDUFA3,upstream_gene_variant,,ENST00000480713,;NDUFA3,upstream_gene_variant,,ENST00000482960,;NDUFA3,missense_variant,p.Met41Leu,ENST00000422029,;NDUFA3,missense_variant,p.Met44Leu,ENST00000419113,;NDUFA3,3_prime_UTR_variant,,ENST00000417903,;NDUFA3,3_prime_UTR_variant,,ENST00000451517,;NDUFA3,non_coding_transcript_exon_variant,,ENST00000484103,;TFPT,downstream_gene_variant,,ENST00000420715,;	C	ENST00000485876	Transcript	missense_variant	172/963	130/255	44/84	M/L	Atg/Ctg	rs776295916	1		1	NDUFA3	HGNC	HGNC:7686	protein_coding	YES	CCDS12877.1	ENSP00000418438	O95167		UPI000013004B	NM_004542.3	tolerated(0.14)		3/4		hmmpanther:PTHR15221,hmmpanther:PTHR15221:SF0,Pfam_domain:PF14987																	MODERATE	1	SNV	1			1										PASS		rs776295916	.												C	3	2	43	54105978	54105978	A	C	1	0	0	0	0	1	0	0	0	10286	217	8	5		5	NDUFA3	19	54105978	Missense_Mutation	SNP	A	C3N-00217_TP	2879945	54105978	4511638	581	13019											
LILRB4	0	.	GRCh38	chr19	54664193	54664193	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttctctcctaggagcctaCagtaaacccaccctttcagc	9	10	5	17	0	2	0	1	0	1	0	4	1	3	1	5	1	4	1	5	1	4	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.363C>A	p.Tyr121Ter	p.Y121*	ENST00000391736	6/14	145	63	82	103	103	0	strelka-varscan-mutect	LILRB4,stop_gained,p.Tyr121Ter,ENST00000391736,NM_001278426.3;LILRB4,stop_gained,p.Tyr121Ter,ENST00000430952,NM_001278427.3;LILRB4,stop_gained,p.Tyr121Ter,ENST00000391733,NM_001278429.3,NM_001278428.3;LILRB4,stop_gained,p.Tyr121Ter,ENST00000391734,;LILRB4,stop_gained,p.Tyr121Ter,ENST00000434286,;LILRB4,downstream_gene_variant,,ENST00000270452,;LILRB4,upstream_gene_variant,,ENST00000461262,;LILRB4,3_prime_UTR_variant,,ENST00000494796,;LILRB4,upstream_gene_variant,,ENST00000470943,;	A	ENST00000391736	Transcript	stop_gained	678/4002	363/1347	121/448	Y/*	taC/taA		1		1	LILRB4	HGNC	HGNC:6608	protein_coding	YES	CCDS12902.1	ENSP00000375616	Q8NHJ6		UPI0000034C02	NM_001278426.3			6/14		hmmpanther:PTHR11738:SF30,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	43	54664193	54664193	C	A	1	0	0	0	0	0	1	0	0	8701	489	17	2		2	LILRB4	19	54664193	Nonsense_Mutation	SNP	C	C3N-00217_TP	558215	54664193	3953423	582	13020											
NCR1	0	.	GRCh38	chr19	54906681	54906681	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagaccaaaaccccctgagCggattaacaaagtccaattc	16	6	6	13	1	0	2	0	1	0	1	2	3	1	3	4	1	3	0	4	1	5	2	rs142746677		C3N-00217_TP	C3N-00217_NB	C	C																c.229C>A	p.=	p.R77R	ENST00000291890	3/7	553	412	141	349	349	0	strelka-varscan-mutect	NCR1,synonymous_variant,p.=,ENST00000594765,NM_001145457.2;NCR1,synonymous_variant,p.=,ENST00000291890,NM_004829.6;NCR1,synonymous_variant,p.=,ENST00000598576,;NCR1,synonymous_variant,p.=,ENST00000338835,NM_001145458.2,NM_001242357.2;NCR1,intron_variant,,ENST00000350790,NM_001242356.2;NCR1,intron_variant,,ENST00000357397,;NCR1,non_coding_transcript_exon_variant,,ENST00000601137,;NCR1,non_coding_transcript_exon_variant,,ENST00000601903,;	A	ENST00000291890	Transcript	synonymous_variant	267/1155	229/915	77/304	R	Cgg/Agg	rs142746677,COSM1001282	1		1	NCR1	HGNC	HGNC:6731	protein_coding	YES	CCDS12911.1	ENSP00000291890		A0A0A0MQZ0	UPI00034F23C0	NM_004829.6			3/7		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF14,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						LOW	1	SNV	5		0,1	1										PASS		rs142746677	.												A	2	1	43	54906681	54906681	C	A	1	0	0	0	0	0	0	0	1	10256	759	27	1		1	NCR1	19	54906681	Silent	SNP	C	C3N-00217_TP	242488	54906681	3710935	583	13021											
NLRP7	0	.	GRCh38	chr19	54930638	54930638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagagatatctacagcCaagcttggttatgctgcatt	10	13	9	9	0	2	2	0	1	2	1	2	3	2	2	1	1	5	4	1	1	4	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2671G>T	p.Gly891Cys	p.G891C	ENST00000588756	11/13	308	177	131	221	221	0	strelka-varscan-mutect	NLRP7,missense_variant,p.Gly891Cys,ENST00000588756,;NLRP7,missense_variant,p.Gly863Cys,ENST00000328092,NM_139176.3;NLRP7,missense_variant,p.Gly891Cys,ENST00000592784,NM_001127255.1;NLRP7,missense_variant,p.Gly891Cys,ENST00000340844,NM_206828.3;NLRP7,missense_variant,p.Gly891Cys,ENST00000590030,;NLRP7,missense_variant,p.Gly891Cys,ENST00000586379,;	A	ENST00000588756	Transcript	missense_variant	3158/3826	2671/3114	891/1037	G/C	Ggc/Tgc		1		-1	NLRP7	HGNC	HGNC:22947	protein_coding	YES	CCDS46183.1	ENSP00000467123	Q8WX94		UPI000174C6C4		deleterious(0.02)		11/13		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF14,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	54930638	54930638	C	A	1	0	0	0	0	1	0	0	0	10520	594	21	2		2	NLRP7	19	54930638	Missense_Mutation	SNP	C	C3N-00217_TP	23957	54930638	3686978	584	13022											
ZNF628	0	.	GRCh38	chr19	55482556	55482556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcggagcggccctacAaatgtgccgagtgcggcaag	8	7	14	12	4	1	0	0	0	1	0	1	2	1	1	2	3	5	1	2	3	3	2	rs868164487		C3N-00217_TP	C3N-00217_NB	A	A																c.1363A>G	p.Lys455Glu	p.K455E	ENST00000598519	3/3	77	37	40	43	43	0	strelka-varscan-mutect	ZNF628,missense_variant,p.Lys455Glu,ENST00000598519,NM_033113.2;ZNF628,missense_variant,p.Lys454Glu,ENST00000391718,;NAT14,upstream_gene_variant,,ENST00000205194,NM_020378.3;NAT14,upstream_gene_variant,,ENST00000591590,;NAT14,upstream_gene_variant,,ENST00000588985,;ZNF628,downstream_gene_variant,,ENST00000591164,;NAT14,upstream_gene_variant,,ENST00000587400,;NAT14,upstream_gene_variant,,ENST00000592719,;	G	ENST00000598519	Transcript	missense_variant	1916/3847	1363/3180	455/1059	K/E	Aaa/Gaa	rs868164487	1		1	ZNF628	HGNC	HGNC:28054	protein_coding	YES	CCDS33116.3	ENSP00000469591	Q5EBL2		UPI00026B9C6E	NM_033113.2	tolerated(0.25)		3/3		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF19,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs868164487	.												G	3	3	43	55482556	55482556	A	G	1	0	0	0	0	1	0	0	0	18627	131	5	5		5	ZNF628	19	55482556	Missense_Mutation	SNP	A	C3N-00217_TP	551918	55482556	3135060	585	13023											
ZNF549	0	.	GRCh38	chr19	57535145	57535145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctgcccccatcatgcaggGccatgtgacctttgaggata	9	10	10	12	0	2	2	1	2	1	0	2	3	2	3	4	2	2	1	4	2	1	2	rs367783563		C3N-00217_TP	C3N-00217_NB	G	G																c.74G>A	p.Gly25Asp	p.G25D	ENST00000376233	3/4	85	72	13	56	56	0	strelka-mutect	ZNF549,missense_variant,p.Gly25Asp,ENST00000602149,;ZNF549,missense_variant,p.Gly25Asp,ENST00000376233,NM_001199295.1;ZNF549,missense_variant,p.Gly12Asp,ENST00000240719,NM_153263.2;ZNF549,intron_variant,,ENST00000594943,;ZNF550,downstream_gene_variant,,ENST00000601415,;	A	ENST00000376233	Transcript	missense_variant,splice_region_variant	255/4053	74/1923	25/640	G/D	gGc/gAc	rs367783563,COSM116988	1		1	ZNF549	HGNC	HGNC:26632	protein_coding	YES	CCDS56106.1	ENSP00000365407	Q6P9A3		UPI0000202D31	NM_001199295.1	tolerated(0.2)		3/4		hmmpanther:PTHR24387:SF30,hmmpanther:PTHR24387,Superfamily_domains:0044637											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs367783563	.												A	3	1	43	57535145	57535145	G	A	1	0	0	0	0	1	0	0	0	18555	1217	42	3		3	ZNF549	19	57535145	Missense_Mutation	SNP	G	C3N-00217_TP	2052589	57535145	1082471	586	13024											
ZSCAN4	0	.	GRCh38	chr19	57678588	57678588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtatctctgtcacttattaGctcaccagagaagacacagg	13	10	8	10	0	3	2	2	0	1	2	4	3	3	2	1	1	1	2	1	1	4	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.985G>T	p.Ala329Ser	p.A329S	ENST00000318203	5/5	235	184	51	203	203	0	strelka-varscan-mutect	ZSCAN4,missense_variant,p.Ala329Ser,ENST00000318203,NM_152677.2;ZSCAN4,missense_variant,p.Ala329Ser,ENST00000612521,;ZNF551,upstream_gene_variant,,ENST00000282296,NM_138347.4;ZNF551,upstream_gene_variant,,ENST00000601064,NM_001270938.1;AC003006.7,upstream_gene_variant,,ENST00000594684,;ZNF551,upstream_gene_variant,,ENST00000596085,;ZNF551,upstream_gene_variant,,ENST00000599402,;AC003006.7,upstream_gene_variant,,ENST00000599221,;	T	ENST00000318203	Transcript	missense_variant	1682/2246	985/1302	329/433	A/S	Gct/Tct		1		1	ZSCAN4	HGNC	HGNC:23709	protein_coding	YES	CCDS12958.1	ENSP00000321963	Q8NAM6		UPI000006E923	NM_152677.2	deleterious(0.03)		5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF45,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	43	57678588	57678588	G	T	1	0	0	0	0	1	0	0	0	18836	971	34	2		2	ZSCAN4	19	57678588	Missense_Mutation	SNP	G	C3N-00217_TP	143443	57678588	939028	587	13025											
ZSCAN18	0	.	GRCh38	chr19	58088772	58088772	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagcagcagagggtccaTgtgcctctcgtacactccat	8	10	11	12	1	1	1	0	0	1	1	4	1	3	1	3	2	4	4	3	2	2	2	rs748767377		C3N-00217_TP	C3N-00217_NB	T	T																c.637A>T	p.Met213Leu	p.M213L	ENST00000600404	3/7	203	123	80	141	141	0	strelka-varscan-mutect	ZSCAN18,missense_variant,p.Met157Leu,ENST00000240727,NM_023926.4;ZSCAN18,missense_variant,p.Met157Leu,ENST00000601144,NM_001145543.1;ZSCAN18,missense_variant,p.Met55Leu,ENST00000433686,;ZSCAN18,missense_variant,p.Met213Leu,ENST00000600404,NM_001145542.1;ZSCAN18,missense_variant,p.Met22Leu,ENST00000421612,NM_001145544.1;ZSCAN18,missense_variant,p.Met157Leu,ENST00000600897,;ZSCAN18,missense_variant,p.Met157Leu,ENST00000600845,;ZSCAN18,downstream_gene_variant,,ENST00000601063,;ZSCAN18,downstream_gene_variant,,ENST00000595721,;ZSCAN18,upstream_gene_variant,,ENST00000600522,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000598497,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000600318,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000594191,;ZNF135,downstream_gene_variant,,ENST00000515535,;ZSCAN18,upstream_gene_variant,,ENST00000596372,;ZSCAN18,upstream_gene_variant,,ENST00000595784,;	A	ENST00000600404	Transcript	missense_variant	667/1934	637/1701	213/566	M/L	Atg/Ttg	rs748767377	1		-1	ZSCAN18	HGNC	HGNC:21037	protein_coding	YES	CCDS46214.1	ENSP00000470123	Q8TBC5		UPI00017A6DAF	NM_001145542.1	tolerated(0.34)		3/7		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF6,SMART_domains:SM00431																	MODERATE	1	SNV	2			1										PASS		rs748767377	.												A	3	1	43	58088772	58088772	T	A	1	0	0	0	0	1	0	0	0	18824	1464	51	4		4	ZSCAN18	19	58088772	Missense_Mutation	SNP	T	C3N-00217_TP	410184	58088772	528844	588	13026											
DEFB125	0	.	GRCh38	chr20	87761	87762	+	Frame_Shift_Del	DEL	AC	AC	-																															gtgggttgctaactcgggtgAccaaaggtaatggaacccta																								novel		C3N-00217_TP	C3N-00217_NB	AC	AC																c.52_53delAC	p.Thr18GlnfsTer3	p.T18Qfs*3	ENST00000382410	1/2	169	128	41	155	155	0	sindel-varindel	DEFB125,frameshift_variant,p.Thr18GlnfsTer3,ENST00000382410,NM_153325.3;DEFB125,intron_variant,,ENST00000608838,;	-	ENST00000382410	Transcript	frameshift_variant	52-53/587	52-53/471	18/156	T/X	ACc/c		1		1	DEFB125	HGNC	HGNC:18105	protein_coding	YES	CCDS12989.2	ENSP00000371847	Q8N687		UPI00001A36DE	NM_153325.3			1/2		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF4,PD866254																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	43	87761	87761	AC	-	1	0	1	0	1	0	0	0	0	4214	275	10	0		0	DEFB125	20	87761	Frame_Shift_Del	DEL	AC	C3N-00217_TP		87761	64356406	589	13027	301	2									
DEFB125	0	.	GRCh38	chr20	87763	87763	+	Silent	SNP	C	C	T																															gggttgctaactcgggtgacCaaaggtaatggaaccctata																								novel		C3N-00217_TP	C3N-00217_NB	C	C																c.54C>T	p.=	p.T18T	ENST00000382410	1/2	180	138	42	149	149	0	strelka-mutect	DEFB125,synonymous_variant,p.=,ENST00000382410,NM_153325.3;DEFB125,intron_variant,,ENST00000608838,;	T	ENST00000382410	Transcript	synonymous_variant	54/587	54/471	18/156	T	acC/acT		1		1	DEFB125	HGNC	HGNC:18105	protein_coding	YES	CCDS12989.2	ENSP00000371847	Q8N687		UPI00001A36DE	NM_153325.3			1/2		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF4,PD866254																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	87763	87763	C	T	1	0	0	0	0	0	0	0	1	4214	608	21	3		3	DEFB125	20	87763	Silent	SNP	C	C3N-00217_TP	2	87763	64356404	590	13028	301	2									
PLCB4	0	.	GRCh38	chr20	9459641	9459641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttcccaaacaggtcaaaGagattgtagcacagcacaca	15	9	7	10	0	1	1	1	0	0	1	2	2	2	1	1	1	3	3	1	1	3	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3043G>A	p.Glu1015Lys	p.E1015K	ENST00000378501	31/36	60	36	24	43	43	0	strelka-varscan-mutect	PLCB4,missense_variant,p.Glu1015Lys,ENST00000378501,NM_000933.3;PLCB4,missense_variant,p.Glu1015Lys,ENST00000378493,;PLCB4,missense_variant,p.Glu1027Lys,ENST00000378473,NM_001172646.1;PLCB4,missense_variant,p.Glu1015Lys,ENST00000278655,NM_182797.2;PLCB4,missense_variant,p.Glu1027Lys,ENST00000414679,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;PLCB4,intron_variant,,ENST00000492632,;	A	ENST00000378501	Transcript	missense_variant	3058/5833	3043/3585	1015/1194	E/K	Gag/Aag		1		1	PLCB4	HGNC	HGNC:9059	protein_coding	YES	CCDS13104.1	ENSP00000367762	Q15147		UPI00002069DF	NM_000933.3	tolerated(0.6)		31/36		Superfamily_domains:0053448,Gene3D:1jadA00,PIRSF_domain:PIRSF000956,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF106																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	43	9459641	9459641	G	A	1	0	0	0	0	1	0	0	0	12124	943	33	3		3	PLCB4	20	9459641	Missense_Mutation	SNP	G	C3N-00217_TP	9371878	9459641	54984526	591	13029											
OTOR	0	.	GRCh38	chr20	16748947	16748947	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttaaaaaagggcagcagAtctatgtgtactcaaagctg	15	9	10	7	1	2	1	1	0	1	1	2	1	2	1	0	1	3	5	0	1	6	3	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.196A>T	p.Ile66Phe	p.I66F	ENST00000246081	2/4	128	95	33	135	135	0	strelka-varscan-mutect	OTOR,missense_variant,p.Ile66Phe,ENST00000246081,NM_020157.3;OTOR,upstream_gene_variant,,ENST00000486129,;OTOR,upstream_gene_variant,,ENST00000490148,;	T	ENST00000246081	Transcript	missense_variant	240/1477	196/387	66/128	I/F	Atc/Ttc		1		1	OTOR	HGNC	HGNC:8517	protein_coding	YES	CCDS13124.1	ENSP00000246081	Q9NRC9		UPI0000047809	NM_020157.3	deleterious(0)		2/4		Gene3D:2.30.30.40,Pfam_domain:PF07653,hmmpanther:PTHR23158,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	16748947	16748947	A	T	1	0	0	0	0	1	0	0	0	11376	333	12	4		4	OTOR	20	16748947	Missense_Mutation	SNP	A	C3N-00217_TP	7289306	16748947	47695220	592	13030											
TLDC2	0	.	GRCh38	chr20	36889303	36889303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttccgcgggggaagctccCcttgcccgaccttcaacaac	7	8	10	16	3	1	0	1	0	0	0	3	2	3	1	5	2	4	2	5	2	3	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.565C>A	p.Pro189Thr	p.P189T	ENST00000217320	6/7	188	135	53	167	167	0	strelka-varscan-mutect	TLDC2,missense_variant,p.Pro189Thr,ENST00000217320,NM_080628.2,NM_001304783.1;TLDC2,missense_variant,p.Pro189Thr,ENST00000602922,;TLDC2,intron_variant,,ENST00000436941,;SAMHD1,downstream_gene_variant,,ENST00000262878,NM_015474.3;	A	ENST00000217320	Transcript	missense_variant	609/2083	565/648	189/215	P/T	Cct/Act		1		1	TLDC2	HGNC	HGNC:16112	protein_coding	YES	CCDS33465.1	ENSP00000217320	A0PJX2		UPI000049DF51	NM_080628.2,NM_001304783.1	deleterious(0.03)		6/7		hmmpanther:PTHR23354,hmmpanther:PTHR23354:SF65,Pfam_domain:PF07534,SMART_domains:SM00584																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	36889303	36889303	C	A	1	0	0	0	0	1	0	0	0	16383	623	22	2		2	TLDC2	20	36889303	Missense_Mutation	SNP	C	C3N-00217_TP	20140356	36889303	27554864	593	13031											
RALGAPB	0	.	GRCh38	chr20	38532776	38532776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatagtcgcaccaatagtgGtattagttcagcaagtggtg	11	12	11	7	1	2	0	2	0	0	0	3	0	2	0	1	2	1	4	1	2	6	5	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.2162G>A	p.Gly721Asp	p.G721D	ENST00000262879	15/30	213	173	40	198	198	0	strelka-varscan-mutect	RALGAPB,missense_variant,p.Gly721Asp,ENST00000262879,NM_001282917.1,NM_020336.3;RALGAPB,missense_variant,p.Gly721Asp,ENST00000397042,NM_001282918.1;RALGAPB,missense_variant,p.Gly721Asp,ENST00000397040,;RALGAPB,missense_variant,p.Gly89Asp,ENST00000632792,;RALGAPB,missense_variant,p.Gly549Asp,ENST00000438490,;RALGAPB,non_coding_transcript_exon_variant,,ENST00000461423,;RPS3P2,upstream_gene_variant,,ENST00000421346,;	A	ENST00000262879	Transcript	missense_variant	2446/8663	2162/4485	721/1494	G/D	gGt/gAt		1		1	RALGAPB	HGNC	HGNC:29221	protein_coding	YES	CCDS13305.1	ENSP00000262879	Q86X10		UPI000000DBFD	NM_001282917.1,NM_020336.3	deleterious(0.03)		15/30		hmmpanther:PTHR21344																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	38532776	38532776	G	A	1	0	0	0	0	1	0	0	0	13174	1261	44	3		3	RALGAPB	20	38532776	Missense_Mutation	SNP	G	C3N-00217_TP	1643473	38532776	25911391	594	13032											
HNF4A	0	.	GRCh38	chr20	44424059	44424059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggaagatcaagcggctgCgttcccaggtgcaggtgagc	9	6	16	10	2	1	2	1	1	0	1	2	3	2	3	1	4	4	3	1	4	2	1			C3N-00217_TP	C3N-00217_NB	C	C																c.934C>T	p.Arg312Cys	p.R312C	ENST00000316099	8/10	300	233	67	223	223	0	strelka-varscan-mutect	HNF4A,missense_variant,p.Arg312Cys,ENST00000316099,NM_001258355.1,NM_000457.4;HNF4A,missense_variant,p.Arg287Cys,ENST00000619550,NM_001287182.1,NM_001287183.1;HNF4A,missense_variant,p.Arg312Cys,ENST00000415691,NM_178849.2;HNF4A,missense_variant,p.Arg312Cys,ENST00000443598,NM_178850.2;HNF4A,missense_variant,p.Arg290Cys,ENST00000316673,NM_175914.4;HNF4A,missense_variant,p.Arg290Cys,ENST00000457232,NM_001030003.2;HNF4A,missense_variant,p.Arg290Cys,ENST00000609795,NM_001030004.2,NM_001287184.1;HNF4A,3_prime_UTR_variant,,ENST00000372920,;	T	ENST00000316099	Transcript	missense_variant	1023/6445	934/1425	312/474	R/C	Cgt/Tgt	CM1111342	1		1	HNF4A	HGNC	HGNC:5024	protein_coding	YES	CCDS13330.1	ENSP00000312987	P41235	F1D8T1	UPI000016A0BA	NM_001258355.1,NM_000457.4	deleterious(0)		8/10		hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF41,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508																	MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	43	44424059	44424059	C	T	1	0	0	0	0	1	0	0	0	7144	768	27	1		1	HNF4A	20	44424059	Missense_Mutation	SNP	C	C3N-00217_TP	5891283	44424059	20020108	595	13033											
CTSA	0	.	GRCh38	chr20	45898365	45898365	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacgaacattgctcctcAgggcgccggccacatggttc	7	8	11	15	3	2	0	2	0	0	0	4	1	3	0	3	3	2	3	3	3	1	2	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1414-2A>T		p.X472_splice	ENST00000372484		405	299	106	353	353	0	strelka-varscan-mutect	CTSA,splice_acceptor_variant,,ENST00000372484,NM_000308.2;CTSA,splice_acceptor_variant,,ENST00000372459,;CTSA,splice_acceptor_variant,,ENST00000191018,NM_001127695.1;CTSA,splice_acceptor_variant,,ENST00000354880,NM_001167594.1;PLTP,downstream_gene_variant,,ENST00000477313,;PLTP,downstream_gene_variant,,ENST00000372431,NM_006227.3;PLTP,downstream_gene_variant,,ENST00000354050,NM_182676.2;PLTP,downstream_gene_variant,,ENST00000372420,NM_001242921.1;PLTP,downstream_gene_variant,,ENST00000420868,NM_001242920.1;CTSA,downstream_gene_variant,,ENST00000419493,;RP3-337O18.9,upstream_gene_variant,,ENST00000607703,;CTSA,splice_acceptor_variant,,ENST00000606788,;CTSA,splice_acceptor_variant,,ENST00000484855,;CTSA,splice_acceptor_variant,,ENST00000606000,;CTSA,downstream_gene_variant,,ENST00000493522,;CTSA,downstream_gene_variant,,ENST00000485627,;CTSA,downstream_gene_variant,,ENST00000480961,;CTSA,downstream_gene_variant,,ENST00000607187,;	T	ENST00000372484	Transcript	splice_acceptor_variant	-/2149	1414/1497	472/498				1		1	CTSA	HGNC	HGNC:9251	protein_coding	YES	CCDS13385.2	ENSP00000361562		X6R8A1	UPI000022B4F7	NM_000308.2				14/14																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	43	45898365	45898365	A	T	1	0	0	0	0	0	0	1	0	3838	202	7	4		4	CTSA	20	45898365	Splice_Site	SNP	A	C3N-00217_TP	1474306	45898365	18545802	596	13034											
CDH22	0	.	GRCh38	chr20	46227508	46227508	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccgccctgcccctcacCggtcttggggtccacggtga	3	7	13	18	3	2	1	1	1	1	0	3	1	3	1	7	5	1	0	7	5	0	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.670G>T	p.Gly224Cys	p.G224C	ENST00000537909	4/12	179	120	59	175	175	0	strelka-varscan-mutect	CDH22,missense_variant,p.Gly224Cys,ENST00000537909,NM_021248.2;CDH22,missense_variant,p.Gly224Cys,ENST00000372262,;	A	ENST00000537909	Transcript	missense_variant,splice_region_variant	1313/3902	670/2487	224/828	G/C	Ggc/Tgc		1		-1	CDH22	HGNC	HGNC:13251	protein_coding	YES	CCDS13395.1	ENSP00000437790	Q9UJ99		UPI0000126DC0	NM_021248.2	deleterious(0)		4/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF311,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	43	46227508	46227508	C	A	1	0	0	0	0	1	0	0	0	2810	666	23	1		1	CDH22	20	46227508	Missense_Mutation	SNP	C	C3N-00217_TP	329143	46227508	18216659	597	13035											
PREX1	0	.	GRCh38	chr20	48708339	48708339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttggtctcattgatgttgGagcaaacggtcttcatggcc	7	13	12	9	1	3	1	2	1	2	0	4	2	3	2	1	4	2	3	1	4	1	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.704C>A	p.Ser235Tyr	p.S235Y	ENST00000371941	6/40	224	144	80	245	245	0	strelka-varscan-mutect	PREX1,missense_variant,p.Ser235Tyr,ENST00000371941,NM_020820.3;	T	ENST00000371941	Transcript	missense_variant	727/6636	704/4980	235/1659	S/Y	tCc/tAc		1		-1	PREX1	HGNC	HGNC:32594	protein_coding	YES	CCDS13410.1	ENSP00000361009	Q8TCU6		UPI000013D375	NM_020820.3	deleterious(0)		6/40		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50010,hmmpanther:PTHR22829:SF6,hmmpanther:PTHR22829,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065																	MODERATE	1	SNV	1			1										PASS		rs1484581061	.												T	3	4	43	48708339	48708339	G	T	1	0	0	0	0	1	0	0	0	12610	1174	41	2		2	PREX1	20	48708339	Missense_Mutation	SNP	G	C3N-00217_TP	2480831	48708339	15735828	598	13036											
CYP24A1	0	.	GRCh38	chr20	54162738	54162738	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtttccaccgcagccagctgGagctctgtgacagcagcata	9	8	11	13	1	1	1	0	1	1	0	2	2	2	2	3	1	5	6	3	1	1	2			C3N-00217_TP	C3N-00217_NB	G	G																c.969C>A	p.=	p.L323L	ENST00000216862	7/12	309	201	108	313	313	0	strelka-varscan-mutect	CYP24A1,synonymous_variant,p.=,ENST00000216862,NM_000782.4;CYP24A1,synonymous_variant,p.=,ENST00000395955,NM_001128915.1;CYP24A1,synonymous_variant,p.=,ENST00000395954,;CYP24A1,non_coding_transcript_exon_variant,,ENST00000487593,;	T	ENST00000216862	Transcript	synonymous_variant	1363/3262	969/1545	323/514	L	ctC/ctA	COSM1471447	1		-1	CYP24A1	HGNC	HGNC:2602	protein_coding	YES	CCDS33491.1	ENSP00000216862	Q07973		UPI00001281B8	NM_000782.4			7/12		hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF5,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	43	54162738	54162738	G	T	1	0	0	0	0	0	0	0	1	3957	1161	41	2		2	CYP24A1	20	54162738	Silent	SNP	G	C3N-00217_TP	5454399	54162738	10281429	599	13037											
PHACTR3	0	.	GRCh38	chr20	59755215	59755215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacttgcaaccccgatggagGaccccgatctgtacagagtg	11	7	11	12	2	1	1	0	0	1	1	1	5	1	3	4	2	4	2	4	2	3	2	rs772879716		C3N-00217_TP	C3N-00217_NB	G	G																c.392G>T	p.Gly131Val	p.G131V	ENST00000371015	4/13	200	159	41	190	189	1	strelka-varscan-mutect	PHACTR3,missense_variant,p.Gly131Val,ENST00000371015,NM_080672.4;PHACTR3,missense_variant,p.Gly90Val,ENST00000395636,NM_183244.1;PHACTR3,missense_variant,p.Gly90Val,ENST00000541461,NM_001281507.1;PHACTR3,missense_variant,p.Gly128Val,ENST00000359926,NM_001199505.1;PHACTR3,missense_variant,p.Gly90Val,ENST00000355648,NM_001199506.1;PHACTR3,missense_variant,p.Gly90Val,ENST00000361300,NM_183246.1;	T	ENST00000371015	Transcript	missense_variant	859/2728	392/1680	131/559	G/V	gGa/gTa	rs772879716	1		1	PHACTR3	HGNC	HGNC:15833	protein_coding	YES	CCDS13480.1	ENSP00000360054	Q96KR7		UPI000006D452	NM_080672.4	tolerated(0.05)		4/13		hmmpanther:PTHR12751:SF7,hmmpanther:PTHR12751																	MODERATE	1	SNV	1			1										PASS		rs772879716	.												T	3	4	43	59755215	59755215	G	T	1	0	0	0	0	1	0	0	0	11900	1174	41	2		2	PHACTR3	20	59755215	Missense_Mutation	SNP	G	C3N-00217_TP	5592477	59755215	4688952	600	13038											
CDH4	0	.	GRCh38	chr20	61910436	61910436	+	Frame_Shift_Del	DEL	C	C	-																															ttgcagtttgcaggggaggtCcccgaaaaccgcgtggagac																										C3N-00217_TP	C3N-00217_NB	C	C																c.1206delC	p.Glu403LysfsTer13	p.E403Kfs*13	ENST00000614565	9/16	69	45	24	71	71	0	sindel-varindel-pindel	CDH4,frameshift_variant,p.Glu403LysfsTer13,ENST00000614565,NM_001794.4;CDH4,frameshift_variant,p.Glu309LysfsTer13,ENST00000611855,;CDH4,frameshift_variant,p.Glu329LysfsTer13,ENST00000543233,NM_001252338.2,NM_001252339.2;	-	ENST00000614565	Transcript	frameshift_variant	1291/6513	1203/2751	401/916	V/X	gtC/gt	COSM4779580	1		1	CDH4	HGNC	HGNC:1763	protein_coding	YES	CCDS13488.1	ENSP00000484928	P55283		UPI000015FE86	NM_001794.4			9/16		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF81,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205											1						HIGH	1	deletion	1	3	1	1										PASS		.	.												-	7	5	43	61910436	61910436	C	-	1	0	1	0	1	0	0	0	0	2815	842	30	0		0	CDH4	20	61910436	Frame_Shift_Del	DEL	C	C3N-00217_TP	2155221	61910436	2533731	601	13039											
OGFR	0	.	GRCh38	chr20	62813415	62813415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccgagagcccatcggaGaccccaggcccccgcccggc	7	1	12	21	4	0	2	0	0	0	2	1	4	0	2	8	3	2	0	8	3	0	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1800G>T	p.Glu600Asp	p.E600D	ENST00000290291	7/7	376	251	125	255	254	1	strelka-varscan-mutect	OGFR,missense_variant,p.Glu548Asp,ENST00000370461,;OGFR,missense_variant,p.Glu600Asp,ENST00000290291,NM_007346.2;OGFR,intron_variant,,ENST00000621591,;COL9A3,upstream_gene_variant,,ENST00000343916,NM_001853.3;COL9A3,upstream_gene_variant,,ENST00000452372,;OGFR,downstream_gene_variant,,ENST00000450048,;COL9A3,upstream_gene_variant,,ENST00000489045,;COL9A3,upstream_gene_variant,,ENST00000477612,;	T	ENST00000290291	Transcript	missense_variant	1825/2410	1800/2034	600/677	E/D	gaG/gaT		1		1	OGFR	HGNC	HGNC:15768	protein_coding	YES	CCDS13504.1	ENSP00000290291	Q9NZT2		UPI000013F107	NM_007346.2	tolerated_low_confidence(0.09)		7/7		Pfam_domain:PF04680																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	62813415	62813415	G	T	1	0	0	0	0	1	0	0	0	10918	933	33	2		2	OGFR	20	62813415	Missense_Mutation	SNP	G	C3N-00217_TP	902979	62813415	1630752	602	13040											
ADAMTS1	0	.	GRCh38	chr21	26837858	26837858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcattctaccagtcttctCtgccaacccaattcacatga	10	11	5	15	1	4	1	1	1	3	0	5	1	4	1	3	1	3	1	3	1	3	4	rs776514634		C3N-00217_TP	C3N-00217_NB	C	C																c.2625G>T	p.Gln875His	p.Q875H	ENST00000284984	9/9	312	256	56	355	355	0	strelka-varscan-mutect	ADAMTS1,missense_variant,p.Gln875His,ENST00000284984,NM_006988.4;ADAMTS1,downstream_gene_variant,,ENST00000451462,;ADAMTS1,downstream_gene_variant,,ENST00000517777,;ADAMTS1,downstream_gene_variant,,ENST00000517452,;ADAMTS1,non_coding_transcript_exon_variant,,ENST00000464589,;ADAMTS1,downstream_gene_variant,,ENST00000492656,;	A	ENST00000284984	Transcript	missense_variant	3080/5191	2625/2904	875/967	Q/H	caG/caT	rs776514634	1		-1	ADAMTS1	HGNC	HGNC:217	protein_coding	YES	CCDS33524.1	ENSP00000284984	Q9UHI8		UPI000013DDC6	NM_006988.4	deleterious(0)		9/9		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF40,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		rs776514634	.												A	3	1	43	26837858	26837858	C	A	1	0	0	0	0	1	0	0	0	299	912	32	2		2	ADAMTS1	21	26837858	Missense_Mutation	SNP	C	C3N-00217_TP		26837858	19872125	603	13041											
KRTAP11-1	0	.	GRCh38	chr21	30881122	30881122	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagacagtagagactcctcCcactggttggcagacagtag	11	7	12	11	0	0	3	0	0	0	3	2	4	2	3	2	2	0	5	2	2	2	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.403G>T	p.Gly135Ter	p.G135*	ENST00000332378	1/1	218	178	40	222	222	0	strelka-varscan-mutect	KRTAP11-1,stop_gained,p.Gly135Ter,ENST00000332378,NM_175858.2;	A	ENST00000332378	Transcript	stop_gained	434/912	403/492	135/163	G/*	Gga/Tga		1		-1	KRTAP11-1	HGNC	HGNC:18922	protein_coding	YES	CCDS13608.1	ENSP00000330720	Q8IUC1		UPI000003B46F	NM_175858.2			1/1		hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF14,Pfam_domain:PF05287																	HIGH	1	SNV				1										PASS		.	.												A	4	1	43	30881122	30881122	C	A	1	0	0	0	0	0	1	0	0	8400	632	22	2		2	KRTAP11-1	21	30881122	Nonsense_Mutation	SNP	C	C3N-00217_TP	4043264	30881122	15828861	604	13042											
TIAM1	0	.	GRCh38	chr21	31266178	31266178	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttatggtttgcaagattGggaatatcagacaccaaatt	14	13	8	6	0	2	2	1	0	1	2	2	3	2	3	1	2	1	2	1	2	5	5	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.795C>A	p.=	p.P265P	ENST00000286827	5/29	332	272	60	364	364	0	strelka-varscan-mutect	TIAM1,synonymous_variant,p.=,ENST00000286827,NM_003253.2;TIAM1,synonymous_variant,p.=,ENST00000541036,;TIAM1,downstream_gene_variant,,ENST00000455508,;TIAM1,intron_variant,,ENST00000469412,;	T	ENST00000286827	Transcript	synonymous_variant	1267/7200	795/4776	265/1591	P	ccC/ccA		1		-1	TIAM1	HGNC	HGNC:11805	protein_coding	YES	CCDS13609.1	ENSP00000286827	Q13009		UPI000013DE6F	NM_003253.2			5/29		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF88																	LOW	1	SNV	1			1										PASS		rs1341575391	.												T	2	4	43	31266178	31266178	G	T	1	0	0	0	0	0	0	0	1	16324	1335	47	2		2	TIAM1	21	31266178	Silent	SNP	G	C3N-00217_TP	385056	31266178	15443805	605	13043											
IL10RB	0	.	GRCh38	chr21	33279839	33279839	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctaaaattgagaatgaatAcgaaacttggactatgaaga	18	9	8	6	1	0	4	0	3	0	2	0	7	0	5	1	1	2	0	1	1	8	5	rs56373309		C3N-00217_TP	C3N-00217_NB	A	A																c.419A>C	p.Tyr140Ser	p.Y140S	ENST00000290200	4/7	192	115	77	287	287	0	strelka-varscan-mutect	IL10RB,missense_variant,p.Tyr140Ser,ENST00000290200,NM_000628.4;AP000295.9,missense_variant,p.Tyr268Ser,ENST00000433395,;IL10RB,missense_variant,p.Tyr77Ser,ENST00000451065,;IL10RB,3_prime_UTR_variant,,ENST00000422891,;AP000295.9,3_prime_UTR_variant,,ENST00000432231,;IL10RB,non_coding_transcript_exon_variant,,ENST00000493295,;IL10RB,non_coding_transcript_exon_variant,,ENST00000498371,;	C	ENST00000290200	Transcript	missense_variant	527/1963	419/978	140/325	Y/S	tAc/tCc	rs56373309	1		1	IL10RB	HGNC	HGNC:5965	protein_coding	YES	CCDS13623.1	ENSP00000290200	Q08334		UPI0000072ECA	NM_000628.4	tolerated(0.5)		4/7		PROSITE_profiles:PS50853,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF50,Pfam_domain:PF09294,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs56373309	.												C	3	2	43	33279839	33279839	A	C	1	0	0	0	0	1	0	0	0	7529	391	14	5		5	IL10RB	21	33279839	Missense_Mutation	SNP	A	C3N-00217_TP	2013661	33279839	13430144	606	13044											
DOPEY2	0	.	GRCh38	chr21	36230531	36230531	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgaagatgcttcgtttcccCctctgaagtctgaggacagt	9	11	10	11	2	2	3	0	2	2	1	4	5	3	4	2	1	1	2	2	1	2	2	rs757851386		C3N-00217_TP	C3N-00217_NB	C	C																c.1747C>G	p.Pro583Ala	p.P583A	ENST00000399151	14/37	156	132	24	163	163	0	strelka-mutect	DOPEY2,missense_variant,p.Pro583Ala,ENST00000399151,NM_001320714.1,NM_005128.3;	G	ENST00000399151	Transcript	missense_variant	1832/7685	1747/6897	583/2298	P/A	Cct/Gct	rs757851386	1		1	DOPEY2	HGNC	HGNC:1291	protein_coding	YES	CCDS13643.1	ENSP00000382104	Q9Y3R5		UPI000013D876	NM_001320714.1,NM_005128.3	tolerated(0.11)		14/37		hmmpanther:PTHR14042,hmmpanther:PTHR14042:SF23																	MODERATE	1	SNV	1			1										PASS		rs757851386	.												G	3	3	43	36230531	36230531	C	G	1	0	0	0	0	1	0	0	0	4522	623	22	4		4	DOPEY2	21	36230531	Missense_Mutation	SNP	C	C3N-00217_TP	2950692	36230531	10479452	607	13045											
COL6A2	0	.	GRCh38	chr21	46112543	46112543	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgactccaccgagatcgAccaggacaccatcaaccgca	12	3	8	18	4	1	1	1	0	0	1	3	5	2	2	6	1	1	1	6	1	1	0	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.680A>T	p.Asp227Val	p.D227V	ENST00000300527	3/28	154	102	52	157	157	0	strelka-varscan-mutect	COL6A2,missense_variant,p.Asp227Val,ENST00000300527,NM_001849.3;COL6A2,missense_variant,p.Asp227Val,ENST00000310645,NM_058175.2;COL6A2,missense_variant,p.Asp227Val,ENST00000409416,;COL6A2,missense_variant,p.Asp227Val,ENST00000397763,NM_058174.2;COL6A2,downstream_gene_variant,,ENST00000436769,;COL6A2,non_coding_transcript_exon_variant,,ENST00000460886,;COL6A2,upstream_gene_variant,,ENST00000485591,;	T	ENST00000300527	Transcript	missense_variant	784/3461	680/3060	227/1019	D/V	gAc/gTc		1		1	COL6A2	HGNC	HGNC:2212	protein_coding	YES	CCDS13728.1	ENSP00000300527	P12110		UPI00001AECE0	NM_001849.3	tolerated(0.08)		3/28		PROSITE_profiles:PS50234,hmmpanther:PTHR24023:SF119,hmmpanther:PTHR24023,Gene3D:3.40.50.410,SMART_domains:SM00327																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	46112543	46112543	A	T	1	0	0	0	0	1	0	0	0	3489	275	10	4		4	COL6A2	21	46112543	Missense_Mutation	SNP	A	C3N-00217_TP	9882012	46112543	597440	608	13046											
PCNT	0	.	GRCh38	chr21	46381837	46381837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaatcaccaagtccaGcaggtgtgtggaatacgctg	14	7	12	8	1	1	2	1	0	0	2	2	3	2	3	2	2	2	2	2	2	6	1			C3N-00217_TP	C3N-00217_NB	G	G																c.3309G>T	p.Gln1103His	p.Q1103H	ENST00000359568	16/47	358	293	65	345	345	0	strelka-varscan-mutect	PCNT,missense_variant,p.Gln1103His,ENST00000359568,NM_006031.5;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;	T	ENST00000359568	Transcript	missense_variant	3416/10560	3309/10011	1103/3336	Q/H	caG/caT	COSM1414626	1		1	PCNT	HGNC	HGNC:16068	protein_coding	YES	CCDS33592.1	ENSP00000352572	O95613		UPI00001AEB88	NM_006031.5	deleterious(0.03)		16/47		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF204											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	43	46381837	46381837	G	T	1	0	0	0	0	1	0	0	0	11678	985	34	2		2	PCNT	21	46381837	Missense_Mutation	SNP	G	C3N-00217_TP	269294	46381837	328146	609	13047											
XKR3	0	.	GRCh38	chr22	16783820	16783820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatactgatagaagaggagCataaagccagtggccaatag	18	6	11	6	0	0	3	0	1	0	2	0	4	0	4	2	2	3	1	2	2	8	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1179G>T	p.Met393Ile	p.M393I	ENST00000331428	4/4	154	123	31	229	229	0	strelka-varscan-mutect	XKR3,missense_variant,p.Met393Ile,ENST00000331428,NM_001318251.1,NM_175878.3;	A	ENST00000331428	Transcript	missense_variant	1282/1690	1179/1380	393/459	M/I	atG/atT		1		-1	XKR3	HGNC	HGNC:28778	protein_coding	YES	CCDS42975.1	ENSP00000331704	Q5GH77		UPI000013EFAE	NM_001318251.1,NM_175878.3	deleterious(0)		4/4		Transmembrane_helices:TMhelix,hmmpanther:PTHR14297:SF7,hmmpanther:PTHR14297,Pfam_domain:PF09815																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	16783820	16783820	C	A	1	0	0	0	0	1	0	0	0	17991	710	25	2		2	XKR3	22	16783820	Missense_Mutation	SNP	C	C3N-00217_TP		16783820	34034648	610	13048											
XKR3	0	.	GRCh38	chr22	16807999	16807999	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagatggagtctctggccAaggactatttcttctttcga	8	15	9	9	1	3	1	0	0	3	1	5	4	3	3	1	3	0	0	1	3	3	5	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.75T>C	p.=	p.L25L	ENST00000331428	2/4	74	52	22	133	133	0	strelka-varscan-mutect	XKR3,synonymous_variant,p.=,ENST00000331428,NM_001318251.1,NM_175878.3;	G	ENST00000331428	Transcript	synonymous_variant	178/1690	75/1380	25/459	L	ctT/ctC		1		-1	XKR3	HGNC	HGNC:28778	protein_coding	YES	CCDS42975.1	ENSP00000331704	Q5GH77		UPI000013EFAE	NM_001318251.1,NM_175878.3			2/4		hmmpanther:PTHR14297:SF7,hmmpanther:PTHR14297																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	43	16807999	16807999	A	G	1	0	0	0	0	0	0	0	1	17991	117	5	5		5	XKR3	22	16807999	Silent	SNP	A	C3N-00217_TP	24179	16807999	34010469	611	13049											
TBX1	0	.	GRCh38	chr22	19766832	19766832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtactcgtcggccggagccGcgccgcccggctcctacgac	4	6	13	18	8	0	0	0	0	0	0	3	2	1	1	5	3	3	2	5	3	2	2	rs774386479		C3N-00217_TP	C3N-00217_NB	G	G																c.1453G>T	p.Ala485Ser	p.A485S	ENST00000332710	9/9	133	105	28	155	155	0	strelka-varscan-mutect	TBX1,missense_variant,p.Ala485Ser,ENST00000332710,NM_080647.1;TBX1,intron_variant,,ENST00000359500,NM_005992.1;TBX1,intron_variant,,ENST00000329705,NM_080646.1;TBX1,intron_variant,,ENST00000621939,;TBX1,downstream_gene_variant,,ENST00000475303,;TBX1,downstream_gene_variant,,ENST00000484336,;	T	ENST00000332710	Transcript	missense_variant	1582/2084	1453/1488	485/495	A/S	Gcg/Tcg	rs774386479	1		1	TBX1	HGNC	HGNC:11592	protein_coding	YES	CCDS13767.1	ENSP00000331791	O43435	D9ZGG0	UPI0000073068	NM_080647.1	tolerated_low_confidence(0.09)		9/9		Low_complexity_(Seg):seg,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF104																	MODERATE	1	SNV	1			1										PASS		rs774386479	.												T	3	4	43	19766832	19766832	G	T	1	0	0	0	0	1	0	0	0	16055	1087	38	1		1	TBX1	22	19766832	Missense_Mutation	SNP	G	C3N-00217_TP	2958833	19766832	31051636	612	13050											
SLC7A4	0	.	GRCh38	chr22	21031032	21031032	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaccgccgtgggttctgggCctcctcactggaggcggcaa	6	7	15	13	3	2	1	1	0	1	1	3	2	3	2	4	5	0	2	4	5	1	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.781G>T	p.Ala261Ser	p.A261S	ENST00000382932	2/5	112	79	33	173	173	0	strelka-varscan-mutect	SLC7A4,missense_variant,p.Ala261Ser,ENST00000382932,NM_004173.2;SLC7A4,missense_variant,p.Ala261Ser,ENST00000403586,;P2RX6,downstream_gene_variant,,ENST00000413302,NM_005446.3;P2RX6,downstream_gene_variant,,ENST00000401443,NM_001159554.1;SLC7A4,downstream_gene_variant,,ENST00000426145,;MIR649,downstream_gene_variant,,ENST00000384843,;AC002472.11,upstream_gene_variant,,ENST00000450652,;P2RX6P,downstream_gene_variant,,ENST00000439119,;P2RX6,downstream_gene_variant,,ENST00000442475,;P2RX6,downstream_gene_variant,,ENST00000432930,;P2RX6,downstream_gene_variant,,ENST00000422210,;P2RX6,downstream_gene_variant,,ENST00000487342,;	A	ENST00000382932	Transcript	missense_variant	849/2313	781/1908	261/635	A/S	Gcc/Tcc		1		-1	SLC7A4	HGNC	HGNC:11062	protein_coding	YES	CCDS33608.1	ENSP00000372390	O43246		UPI0000169EC7	NM_004173.2	deleterious(0)		2/5		hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF410,Pfam_domain:PF13520																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	21031032	21031032	C	A	1	0	0	0	0	1	0	0	0	14982	739	26	2		2	SLC7A4	22	21031032	Missense_Mutation	SNP	C	C3N-00217_TP	1264200	21031032	29787436	613	13051											
BCR	0	.	GRCh38	chr22	23310407	23310407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaaaacagacaggggtcttCggagtcaagattgctgtggt	11	9	14	7	2	2	2	1	0	1	2	3	4	2	3	0	4	2	1	0	4	3	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.3156C>T	p.=	p.F1052F	ENST00000305877	18/23	103	97	6	133	133	0	varscan-mutect	BCR,synonymous_variant,p.=,ENST00000305877,NM_004327.3;BCR,synonymous_variant,p.=,ENST00000359540,NM_021574.2;BCR,3_prime_UTR_variant,,ENST00000398512,;BCR,non_coding_transcript_exon_variant,,ENST00000436990,;BCR,non_coding_transcript_exon_variant,,ENST00000419722,;BCR,non_coding_transcript_exon_variant,,ENST00000475025,;BCR,non_coding_transcript_exon_variant,,ENST00000478978,;BCR,upstream_gene_variant,,ENST00000458056,;	T	ENST00000305877	Transcript	synonymous_variant	3907/7082	3156/3816	1052/1271	F	ttC/ttT		1		1	BCR	HGNC	HGNC:1014	protein_coding	YES	CCDS13806.1	ENSP00000303507	P11274		UPI000016A088	NM_004327.3			18/23		hmmpanther:PTHR23182,hmmpanther:PTHR23182:SF3,Gene3D:1.10.555.10,Superfamily_domains:SSF48350																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	23310407	23310407	C	T	1	0	0	0	0	0	0	0	1	1535	883	31	1		1	BCR	22	23310407	Silent	SNP	C	C3N-00217_TP	2279375	23310407	27508061	614	13052											
CABIN1	0	.	GRCh38	chr22	24043051	24043051	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccctgtttggataacctaAtcactgtcctgtacaccctc	8	12	7	14	0	1	0	1	0	0	0	3	1	2	1	4	2	2	2	4	2	3	4	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.493A>C	p.Ile165Leu	p.I165L	ENST00000398319	6/37	173	127	46	222	222	0	strelka-varscan-mutect	CABIN1,missense_variant,p.Ile165Leu,ENST00000398319,NM_001199281.1;CABIN1,missense_variant,p.Ile165Leu,ENST00000263119,NM_012295.3;CABIN1,missense_variant,p.Ile165Leu,ENST00000617531,NM_001201429.1;CABIN1,missense_variant,p.Ile165Leu,ENST00000405822,;CABIN1,missense_variant,p.Ile120Leu,ENST00000445422,;CABIN1,missense_variant,p.Ile120Leu,ENST00000454754,;	C	ENST00000398319	Transcript	missense_variant	878/7480	493/6663	165/2220	I/L	Atc/Ctc		1		1	CABIN1	HGNC	HGNC:24187	protein_coding	YES	CCDS13823.1	ENSP00000381364	Q9Y6J0	A0A024R1E5	UPI0000126D6C	NM_001199281.1	deleterious(0.03)		6/37		Gene3D:1.25.40.10,hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	24043051	24043051	A	C	1	0	0	0	0	1	0	0	0	2214	101	4	5		5	CABIN1	22	24043051	Missense_Mutation	SNP	A	C3N-00217_TP	732644	24043051	26775417	615	13053											
MYO18B	0	.	GRCh38	chr22	25768248	25768248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgggcaaggagagcgaggGgtcccgcagccccgaccctg	7	4	16	14	3	1	1	0	0	1	1	2	4	2	1	4	4	2	2	4	4	1	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.332G>T	p.Gly111Val	p.G111V	ENST00000335473	4/44	141	111	30	183	183	0	strelka-varscan-mutect	MYO18B,missense_variant,p.Gly111Val,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,missense_variant,p.Gly111Val,ENST00000407587,;MYO18B,missense_variant,p.Gly111Val,ENST00000536101,;MYO18B,missense_variant,p.Gly111Val,ENST00000539302,;MYO18B,upstream_gene_variant,,ENST00000418374,;	T	ENST00000335473	Transcript	missense_variant	582/8565	332/7704	111/2567	G/V	gGg/gTg		1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5	tolerated_low_confidence(0.07)		4/44																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	25768248	25768248	G	T	1	0	0	0	0	1	0	0	0	10067	1232	43	2		2	MYO18B	22	25768248	Missense_Mutation	SNP	G	C3N-00217_TP	1725197	25768248	25050220	616	13054											
MYO18B	0	.	GRCh38	chr22	25768918	25768918	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggacggtccccagaataaGaaggacaaagaaggggtgct	14	5	15	7	1	0	3	0	0	0	3	1	5	1	5	2	5	1	1	2	5	5	1			C3N-00217_TP	C3N-00217_NB	G	G																c.1002G>A	p.=	p.K334K	ENST00000335473	4/44	233	185	48	274	274	0	strelka-varscan-mutect	MYO18B,synonymous_variant,p.=,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,synonymous_variant,p.=,ENST00000407587,;MYO18B,synonymous_variant,p.=,ENST00000536101,;MYO18B,synonymous_variant,p.=,ENST00000539302,;MYO18B,upstream_gene_variant,,ENST00000418374,;	A	ENST00000335473	Transcript	synonymous_variant	1252/8565	1002/7704	334/2567	K	aaG/aaA	COSM4839896	1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5			4/44													1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	43	25768918	25768918	G	A	1	0	0	0	0	0	0	0	1	10067	933	33	3		3	MYO18B	22	25768918	Silent	SNP	G	C3N-00217_TP	670	25768918	25049550	617	13055											
PES1	0	.	GRCh38	chr22	30584640	30584640	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtggcacttgccagtcCgcgggaaggtggaaaacagg	10	5	16	10	3	0	0	0	0	0	0	1	2	1	2	2	5	2	2	2	5	3	1	rs768262111		C3N-00217_TP	C3N-00217_NB	C	C																c.446G>T	p.Arg149Leu	p.R149L	ENST00000354694	5/15	204	173	31	277	276	1	strelka-varscan-mutect	PES1,missense_variant,p.Arg10Leu,ENST00000402281,NM_001282327.1;PES1,missense_variant,p.Arg10Leu,ENST00000405677,NM_001282328.1;PES1,missense_variant,p.Arg149Leu,ENST00000354694,NM_014303.3;PES1,missense_variant,p.Arg149Leu,ENST00000402284,;PES1,missense_variant,p.Arg149Leu,ENST00000335214,NM_001243225.1;PES1,missense_variant,p.Arg10Leu,ENST00000406208,;PES1,upstream_gene_variant,,ENST00000441668,;PES1,downstream_gene_variant,,ENST00000433575,;PES1,non_coding_transcript_exon_variant,,ENST00000477762,;PES1,upstream_gene_variant,,ENST00000488719,;PES1,downstream_gene_variant,,ENST00000466614,;	A	ENST00000354694	Transcript	missense_variant	553/2295	446/1767	149/588	R/L	cGg/cTg	rs768262111,COSM3731286	1		-1	PES1	HGNC	HGNC:8848	protein_coding	YES	CCDS13880.1	ENSP00000346725	O00541	B2RDF2	UPI0000001618	NM_014303.3	deleterious(0.02)		5/15		HAMAP:MF_03028,hmmpanther:PTHR12221,Pfam_domain:PF06732											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs768262111	.												A	3	1	43	30584640	30584640	C	A	1	0	0	0	0	1	0	0	0	11822	652	23	1		1	PES1	22	30584640	Missense_Mutation	SNP	C	C3N-00217_TP	4815722	30584640	20233828	618	13056											
MGAT3	0	.	GRCh38	chr22	39488697	39488697	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgactacgaggacaagcgGgacctgaactacatccgcgg	11	5	14	11	4	0	2	0	2	0	0	1	5	1	4	2	4	4	0	2	4	4	2	rs767178255		C3N-00217_TP	C3N-00217_NB	G	G																c.1350G>T	p.=	p.R450R	ENST00000341184	2/2	207	158	49	241	238	3	strelka-varscan-mutect	MGAT3,synonymous_variant,p.=,ENST00000341184,NM_002409.4,NM_001098270.1;MGAT3,downstream_gene_variant,,ENST00000429402,;MGAT3,downstream_gene_variant,,ENST00000418314,;	T	ENST00000341184	Transcript	synonymous_variant	1565/5062	1350/1602	450/533	R	cgG/cgT	rs767178255	1		1	MGAT3	HGNC	HGNC:7046	protein_coding	YES	CCDS13994.2	ENSP00000345270	Q09327		UPI00003765B6	NM_002409.4,NM_001098270.1			2/2		hmmpanther:PTHR12224:SF0,hmmpanther:PTHR12224																	LOW	1	SNV	1			1										PASS		rs767178255	.												T	2	4	43	39488697	39488697	G	T	1	0	0	0	0	0	0	0	1	9504	1219	43	2		2	MGAT3	22	39488697	Silent	SNP	G	C3N-00217_TP	8904057	39488697	11329771	619	13057											
CACNA1I	0	.	GRCh38	chr22	39658978	39658978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtgggctgtcggtgctgcGgaccttccggctgctgcgcg	1	9	18	13	6	0	0	0	0	0	0	2	1	1	1	2	5	4	4	2	5	0	1			C3N-00217_TP	C3N-00217_NB	G	G																c.2192G>A	p.Arg731Gln	p.R731Q	ENST00000402142	12/37	189	150	39	212	211	1	strelka-varscan-mutect	CACNA1I,missense_variant,p.Arg731Gln,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Arg696Gln,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Arg731Gln,ENST00000401624,;CACNA1I,missense_variant,p.Arg696Gln,ENST00000407673,;	A	ENST00000402142	Transcript	missense_variant	2192/10004	2192/6672	731/2223	R/Q	cGg/cAg	COSM1416358,COSM1416359,COSM5088223,COSM5088224	1		1	CACNA1I	HGNC	HGNC:1396	protein_coding	YES	CCDS46710.1	ENSP00000385019	Q9P0X4		UPI000012727D	NM_021096.3	deleterious(0)		12/37		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF209,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs1400949374	.												A	3	1	43	39658978	39658978	G	A	1	0	0	0	0	1	0	0	0	2234	1116	39	1		1	CACNA1I	22	39658978	Missense_Mutation	SNP	G	C3N-00217_TP	170281	39658978	11159490	620	13058											
ENTHD1	0	.	GRCh38	chr22	39744059	39744059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggctatcattttcctctaCatcagaagacactgggcccc	10	10	8	13	0	3	2	2	0	1	2	4	3	4	2	3	2	1	1	3	2	3	4			C3N-00217_TP	C3N-00217_NB	C	C																c.1444G>A	p.Val482Ile	p.V482I	ENST00000325157	7/7	170	126	44	200	200	0	strelka-varscan-mutect	ENTHD1,missense_variant,p.Val482Ile,ENST00000325157,NM_152512.3;	T	ENST00000325157	Transcript	missense_variant	1695/2710	1444/1824	482/607	V/I	Gta/Ata	COSM1637966	1		-1	ENTHD1	HGNC	HGNC:26352	protein_coding	YES	CCDS13998.1	ENSP00000317431	Q8IYW4		UPI00000741D2	NM_152512.3	deleterious(0)		7/7		hmmpanther:PTHR12276:SF57,hmmpanther:PTHR12276											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	43	39744059	39744059	C	T	1	0	0	0	0	1	0	0	0	4982	478	17	3		3	ENTHD1	22	39744059	Missense_Mutation	SNP	C	C3N-00217_TP	85081	39744059	11074409	621	13059											
PACSIN2	0	.	GRCh38	chr22	42893462	42893462	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggggccccatacctttcTccacgagctgcctccagcgc	5	7	10	19	3	1	0	0	0	1	0	3	1	2	0	7	2	4	1	7	2	1	2	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.212A>G	p.Glu71Gly	p.E71G	ENST00000263246	3/11	240	184	56	263	263	0	strelka-varscan-mutect	PACSIN2,missense_variant,p.Glu71Gly,ENST00000263246,NM_001184970.1;PACSIN2,missense_variant,p.Glu71Gly,ENST00000337959,;PACSIN2,missense_variant,p.Glu71Gly,ENST00000407585,NM_001184971.1;PACSIN2,missense_variant,p.Glu71Gly,ENST00000403744,NM_007229.3;PACSIN2,missense_variant,p.Glu71Gly,ENST00000402229,;PACSIN2,missense_variant,p.Glu71Gly,ENST00000634914,;PACSIN2,missense_variant,p.Glu71Gly,ENST00000453643,;PACSIN2,missense_variant,p.Glu71Gly,ENST00000422336,;PACSIN2,missense_variant,p.Glu71Gly,ENST00000418133,;PACSIN2,downstream_gene_variant,,ENST00000453079,;PACSIN2,non_coding_transcript_exon_variant,,ENST00000445706,;	C	ENST00000263246	Transcript	missense_variant	414/3249	212/1461	71/486	E/G	gAg/gGg		1		-1	PACSIN2	HGNC	HGNC:8571	protein_coding	YES	CCDS43023.1	ENSP00000263246	Q9UNF0		UPI00001311CA	NM_001184970.1	deleterious(0)		3/11		Pfam_domain:PF00611,PROSITE_profiles:PS51741,hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF14,SMART_domains:SM00055,Superfamily_domains:SSF103657																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	42893462	42893462	T	C	1	0	0	0	0	1	0	0	0	11453	1565	54	5		5	PACSIN2	22	42893462	Missense_Mutation	SNP	T	C3N-00217_TP	3149403	42893462	7925006	622	13060											
PLXNB2	0	.	GRCh38	chr22	50290398	50290398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtggccacctgctgctccaGctgcagcttcgcatccagct	5	9	10	17	2	0	0	0	0	0	0	3	0	2	0	4	1	6	7	4	1	0	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.187C>A	p.Leu63Met	p.L63M	ENST00000449103	3/37	135	124	11	141	140	1	strelka-varscan-mutect	PLXNB2,missense_variant,p.Leu63Met,ENST00000449103,;PLXNB2,missense_variant,p.Leu63Met,ENST00000359337,NM_012401.3;PLXNB2,missense_variant,p.Leu63Met,ENST00000432455,;PLXNB2,missense_variant,p.Leu63Met,ENST00000425954,;PLXNB2,upstream_gene_variant,,ENST00000411680,;PLXNB2,upstream_gene_variant,,ENST00000434732,;PLXNB2,upstream_gene_variant,,ENST00000496720,;	T	ENST00000449103	Transcript	missense_variant	328/6383	187/5517	63/1838	L/M	Ctg/Atg		1		-1	PLXNB2	HGNC	HGNC:9104	protein_coding	YES	CCDS43035.1	ENSP00000409171	O15031		UPI000003812D		tolerated(0.11)		3/37		PROSITE_profiles:PS51004,hmmpanther:PTHR22625:SF9,hmmpanther:PTHR22625,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	50290398	50290398	G	T	1	0	0	0	0	1	0	0	0	12230	962	34	2		2	PLXNB2	22	50290398	Missense_Mutation	SNP	G	C3N-00217_TP	7396936	50290398	528070	623	13061											
SBF1	0	.	GRCh38	chr22	50465219	50465219	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaggcaccccaccttaTggaagcggatgacaggctcc	10	5	10	16	1	0	1	0	1	0	0	1	3	1	3	6	4	1	2	6	4	2	1	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.1199A>G	p.His400Arg	p.H400R	ENST00000380817	11/41	89	74	15	99	99	0	strelka-varscan-mutect	SBF1,missense_variant,p.His400Arg,ENST00000380817,NM_002972.3;SBF1,missense_variant,p.His401Arg,ENST00000348911,;SBF1,downstream_gene_variant,,ENST00000477234,;SBF1,downstream_gene_variant,,ENST00000399627,;	C	ENST00000380817	Transcript	missense_variant	1383/8008	1199/5682	400/1893	H/R	cAt/cGt		1		-1	SBF1	HGNC	HGNC:10542	protein_coding	YES	CCDS14091.2	ENSP00000370196	O95248	A0A024R4Z9	UPI00001D69ED	NM_002972.3	deleterious(0)		11/41		PROSITE_profiles:PS50947,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF43,SMART_domains:SM00801																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	50465219	50465219	T	C	1	0	0	0	0	1	0	0	0	14122	1478	51	5		5	SBF1	22	50465219	Missense_Mutation	SNP	T	C3N-00217_TP	174821	50465219	353249	624	13062											
CSF2RA	0	.	GRCh38	chrX	1282770	1282770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcattcctcctgatcccaGagaaatcgggtaagtatgga	12	9	10	10	1	0	2	0	1	0	1	4	4	3	3	3	2	1	3	3	2	3	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.67G>A	p.Glu23Lys	p.E23K	ENST00000417535	3/14	385	327	58	439	439	0	strelka-varscan-mutect	CSF2RA,missense_variant,p.Glu23Lys,ENST00000381524,;CSF2RA,missense_variant,p.Glu23Lys,ENST00000417535,NM_001161530.1;CSF2RA,missense_variant,p.Glu23Lys,ENST00000432318,NM_001161529.1;CSF2RA,missense_variant,p.Glu23Lys,ENST00000381529,NM_006140.4,NM_172245.2;CSF2RA,missense_variant,p.Glu23Lys,ENST00000355432,NM_172246.2;CSF2RA,missense_variant,p.Glu23Lys,ENST00000381509,NM_001161531.1;CSF2RA,missense_variant,p.Glu23Lys,ENST00000355805,NM_172249.2;CSF2RA,missense_variant,p.Glu23Lys,ENST00000381500,NM_172247.2;CSF2RA,missense_variant,p.Glu23Lys,ENST00000412290,;CSF2RA,missense_variant,p.Glu23Lys,ENST00000494969,;CSF2RA,5_prime_UTR_variant,,ENST00000501036,NM_001161532.1;CSF2RA,non_coding_transcript_exon_variant,,ENST00000493312,;CSF2RA,downstream_gene_variant,,ENST00000481245,;CSF2RA,upstream_gene_variant,,ENST00000477940,;CSF2RA,missense_variant,p.Glu23Lys,ENST00000486791,;	A	ENST00000417535	Transcript	missense_variant	261/1955	67/1305	23/434	E/K	Gag/Aag		1		1	CSF2RA	HGNC	HGNC:2435	protein_coding	YES	CCDS55359.1	ENSP00000394227	P15509		UPI000159C3E4	NM_001161530.1	tolerated(0.1)		3/14		hmmpanther:PTHR23036:SF94,hmmpanther:PTHR23036																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	43	1282770	1282770	G	A	1	0	0	0	0	1	0	0	0	3735	943	33	3		3	CSF2RA	23	1282770	Missense_Mutation	SNP	G	C3N-00217_TP		1282770	154758125	625	13063											
XG	0	.	GRCh38	chrX	2782102	2782102	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccaccttactacccacAgcccgagaatcccgacagcg	14	4	6	17	3	0	1	0	0	0	1	1	3	1	1	5	0	5	0	5	0	5	2	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.164A>T	p.Gln55Leu	p.Q55L	ENST00000419513	4/11	313	264	49	322	322	0	strelka-varscan-mutect	XG,missense_variant,p.Gln55Leu,ENST00000381174,NM_001141920.1,NM_175569.2;XG,missense_variant,p.Gln55Leu,ENST00000419513,NM_001141919.1;XG,missense_variant,p.Gln33Leu,ENST00000509484,;	T	ENST00000419513	Transcript	missense_variant	387/979	164/588	55/195	Q/L	cAg/cTg		1		1	XG	HGNC	HGNC:12806	protein_coding	YES	CCDS48073.1	ENSP00000411004	P55808		UPI0000D61D1F	NM_001141919.1	deleterious(0.02)		4/11		Pfam_domain:PF12301,hmmpanther:PTHR15076,hmmpanther:PTHR15076:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	2782102	2782102	A	T	1	0	0	0	0	1	0	0	0	17986	188	7	4		4	XG	23	2782102	Missense_Mutation	SNP	A	C3N-00217_TP	1499332	2782102	153258793	626	13064											
ARSH	0	.	GRCh38	chrX	3029364	3029364	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggtcaggtggcatcagaaGgactgtaagtatgaaggctg	12	8	15	6	1	2	2	2	1	0	1	2	3	2	3	0	5	0	4	0	5	4	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1317G>A	p.=	p.K439K	ENST00000381130	8/9	70	60	10	92	92	0	strelka-varscan-mutect	ARSH,synonymous_variant,p.=,ENST00000381130,NM_001011719.1;	A	ENST00000381130	Transcript	synonymous_variant	1317/1875	1317/1689	439/562	K	aaG/aaA		1		1	ARSH	HGNC	HGNC:32488	protein_coding	YES	CCDS35198.1	ENSP00000370522	Q5FYA8		UPI00001D7C2E	NM_001011719.1			8/9		Gene3D:3.30.1120.10,Pfam_domain:PF14707,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF240,Superfamily_domains:SSF53649																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	43	3029364	3029364	G	A	1	0	0	0	0	0	0	0	1	1136	1014	35	3		3	ARSH	23	3029364	Silent	SNP	G	C3N-00217_TP	247262	3029364	153011531	627	13065											
MXRA5	0	.	GRCh38	chrX	3324598	3324598	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattggacactcaaagtccaAggcaactgttgcatttatgt	12	12	8	9	0	1	0	1	0	0	0	2	1	2	1	1	2	2	3	1	2	4	4	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1087T>A	p.Leu363Met	p.L363M	ENST00000217939	5/7	117	95	22	127	127	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Leu363Met,ENST00000217939,NM_015419.3;	T	ENST00000217939	Transcript	missense_variant	1242/9793	1087/8487	363/2828	L/M	Ttg/Atg		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	deleterious(0.03)		5/7		hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	3324598	3324598	A	T	1	0	0	0	0	1	0	0	0	10002	69	3	4		4	MXRA5	23	3324598	Missense_Mutation	SNP	A	C3N-00217_TP	295234	3324598	152716297	628	13066											
PRKX	0	.	GRCh38	chrX	3713136	3713136	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggctgtacacaggcggctCcggcgacagcgcctcagggc	7	4	15	15	4	1	0	1	0	0	0	2	1	2	0	2	5	2	3	2	5	1	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.118G>T	p.Glu40Ter	p.E40*	ENST00000262848	1/9	187	164	23	150	150	0	strelka-varscan-mutect	PRKX,stop_gained,p.Glu40Ter,ENST00000262848,NM_005044.4;RP11-558O12.1,upstream_gene_variant,,ENST00000329806,;	A	ENST00000262848	Transcript	stop_gained	473/6031	118/1077	40/358	E/*	Gag/Tag		1		-1	PRKX	HGNC	HGNC:9441	protein_coding	YES	CCDS14125.1	ENSP00000262848	P51817	A0A024RBU5	UPI000000D998	NM_005044.4			1/9		hmmpanther:PTHR24353,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		rs1169697418	.												A	4	1	43	3713136	3713136	C	A	1	0	0	0	0	0	1	0	0	12659	864	30	2		2	PRKX	23	3713136	Nonsense_Mutation	SNP	C	C3N-00217_TP	388538	3713136	152327759	629	13067											
MSL3	0	.	GRCh38	chrX	11765720	11765720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaagctcttcctgcacCtggaaaagagtaggttcatt	10	11	9	11	0	2	1	1	0	1	1	3	2	3	2	3	2	3	4	3	2	4	4	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1162C>A	p.Leu388Met	p.L388M	ENST00000312196	9/13	88	74	14	73	73	0	strelka-mutect	MSL3,missense_variant,p.Leu388Met,ENST00000337339,NM_078628.1;MSL3,missense_variant,p.Leu222Met,ENST00000380693,NM_006800.3;MSL3,missense_variant,p.Leu388Met,ENST00000312196,NM_078629.3;MSL3,missense_variant,p.Leu376Met,ENST00000398527,NM_001193270.2;MSL3,missense_variant,p.Leu239Met,ENST00000361672,NM_001282174.1;MSL3,downstream_gene_variant,,ENST00000380692,;MSL3,downstream_gene_variant,,ENST00000421368,;MSL3,downstream_gene_variant,,ENST00000476743,;MSL3,non_coding_transcript_exon_variant,,ENST00000467141,;MSL3,downstream_gene_variant,,ENST00000483645,;MSL3,downstream_gene_variant,,ENST00000473806,;MSL3,3_prime_UTR_variant,,ENST00000468149,;MSL3,3_prime_UTR_variant,,ENST00000380691,;MSL3,downstream_gene_variant,,ENST00000494268,;MSL3,downstream_gene_variant,,ENST00000482871,;MSL3,downstream_gene_variant,,ENST00000478462,;MSL3,upstream_gene_variant,,ENST00000473380,;	A	ENST00000312196	Transcript	missense_variant	1267/2345	1162/1566	388/521	L/M	Ctg/Atg		1		1	MSL3	HGNC	HGNC:7370	protein_coding	YES	CCDS14147.1	ENSP00000312244	Q8N5Y2		UPI000006E6B7	NM_078629.3	deleterious(0.01)		9/13		PROSITE_profiles:PS51640,Pfam_domain:PF05712																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	11765720	11765720	C	A	1	0	0	0	0	1	0	0	0	9862	680	24	2		2	MSL3	23	11765720	Missense_Mutation	SNP	C	C3N-00217_TP	8052584	11765720	144275175	630	13068											
EGFL6	0	.	GRCh38	chrX	13633039	13633039	+	Missense_Mutation	SNP	G	G	T																															ccggcgaaatcgcagtggatGgcgtcttgcttgtttcaggc																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1609G>T	p.Gly537Cys	p.G537C	ENST00000380602	12/12	172	151	21	165	165	0	strelka-varscan-mutect	EGFL6,missense_variant,p.Gly536Cys,ENST00000361306,NM_015507.3;EGFL6,missense_variant,p.Gly537Cys,ENST00000380602,NM_001167890.1;	T	ENST00000380602	Transcript	missense_variant	1849/2385	1609/1665	537/554	G/C	Ggc/Tgc		1		1	EGFL6	HGNC	HGNC:3235	protein_coding	YES	CCDS55370.1	ENSP00000369976	Q8IUX8		UPI0000034CAE	NM_001167890.1	deleterious(0.03)		12/12		Pfam_domain:PF00629,PROSITE_profiles:PS50060,hmmpanther:PTHR24050,hmmpanther:PTHR24050:SF18,SMART_domains:SM00137,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	13633039	13633039	G	T	1	0	0	0	0	1	0	0	0	4799	1348	47	2		2	EGFL6	23	13633039	Missense_Mutation	SNP	G	C3N-00217_TP	1867319	13633039	142407856	631	13069	302	2									
EGFL6	0	.	GRCh38	chrX	13633040	13633040	+	Missense_Mutation	SNP	G	G	T																															cggcgaaatcgcagtggatgGcgtcttgcttgtttcaggct																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1610G>T	p.Gly537Val	p.G537V	ENST00000380602	12/12	169	146	23	165	162	3	strelka-varscan-mutect	EGFL6,missense_variant,p.Gly536Val,ENST00000361306,NM_015507.3;EGFL6,missense_variant,p.Gly537Val,ENST00000380602,NM_001167890.1;	T	ENST00000380602	Transcript	missense_variant	1850/2385	1610/1665	537/554	G/V	gGc/gTc		1		1	EGFL6	HGNC	HGNC:3235	protein_coding	YES	CCDS55370.1	ENSP00000369976	Q8IUX8		UPI0000034CAE	NM_001167890.1	deleterious(0.01)		12/12		Pfam_domain:PF00629,PROSITE_profiles:PS50060,hmmpanther:PTHR24050,hmmpanther:PTHR24050:SF18,SMART_domains:SM00137,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs1487157417	.												T	3	4	43	13633040	13633040	G	T	1	0	0	0	0	1	0	0	0	4799	1203	42	2		2	EGFL6	23	13633040	Missense_Mutation	SNP	G	C3N-00217_TP	1	13633040	142407855	632	13070	302	2									
MAGEB17	0	.	GRCh38	chrX	16171314	16171314	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaggaggctctgagagAggaggaagagcaagccagag	14	4	18	5	0	1	5	0	2	1	3	1	9	1	8	1	4	2	3	1	4	3	1	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.932A>T	p.Glu311Val	p.E311V	ENST00000400004	2/2	42	21	21	45	45	0	strelka-varscan-mutect	MAGEB17,missense_variant,p.Glu311Val,ENST00000400004,NM_001277307.1;MAGEB17,missense_variant,p.Glu311Val,ENST00000400003,;RP11-431J24.2,upstream_gene_variant,,ENST00000435789,;	T	ENST00000400004	Transcript	missense_variant	1284/1434	932/1011	311/336	E/V	gAg/gTg		1		1	MAGEB17	HGNC	HGNC:17418	protein_coding	YES	CCDS59524.1	ENSP00000382884	A8MXT2		UPI00001602F1	NM_001277307.1	deleterious(0)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF67																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	43	16171314	16171314	A	T	1	0	0	0	0	1	0	0	0	9090	304	11	4		4	MAGEB17	23	16171314	Missense_Mutation	SNP	A	C3N-00217_TP	2538274	16171314	139869581	633	13071											
PHKA2	0	.	GRCh38	chrX	18900689	18900689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcatcagcactaaacCgcctagtcatctgaaagcaa	13	9	6	13	1	4	1	3	1	1	0	4	1	4	1	3	0	3	3	3	0	5	3	rs753106449		C3N-00217_TP	C3N-00217_NB	C	C																c.3038G>T	p.Arg1013Leu	p.R1013L	ENST00000379942	28/33	330	282	48	406	405	1	strelka-varscan-mutect	PHKA2,missense_variant,p.Arg1013Leu,ENST00000379942,NM_000292.2;PHKA2,non_coding_transcript_exon_variant,,ENST00000473739,;PHKA2,non_coding_transcript_exon_variant,,ENST00000486231,;PHKA2,intron_variant,,ENST00000469645,;PHKA2,upstream_gene_variant,,ENST00000481718,;PHKA2,upstream_gene_variant,,ENST00000469485,;	A	ENST00000379942	Transcript	missense_variant	3704/5559	3038/3708	1013/1235	R/L	cGg/cTg	rs753106449	1		-1	PHKA2	HGNC	HGNC:8926	protein_coding	YES	CCDS14190.1	ENSP00000369274	P46019		UPI000012DF4B	NM_000292.2	tolerated(0.1)		28/33		hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF5																	MODERATE	1	SNV	1			1										PASS		rs753106449	.												A	3	1	43	18900689	18900689	C	A	1	0	0	0	0	1	0	0	0	11932	652	23	1		1	PHKA2	23	18900689	Missense_Mutation	SNP	C	C3N-00217_TP	2729375	18900689	137140206	634	13072											
PRDX4	0	.	GRCh38	chrX	23675142	23675142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatattcgtagaaaaaaaaGaatggatttactcttaaagc	18	13	6	4	1	1	2	0	0	1	2	2	3	1	3	0	1	2	1	0	1	11	7	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.512G>A	p.Arg171Lys	p.R171K	ENST00000379331	3/3	115	103	12	179	179	0	strelka-varscan-mutect	PRDX4,missense_variant,p.Arg171Lys,ENST00000379331,;PRDX4,intron_variant,,ENST00000379341,NM_006406.1;PRDX4,intron_variant,,ENST00000379349,;PRDX4,intron_variant,,ENST00000439422,;PRDX4,intron_variant,,ENST00000495599,;	A	ENST00000379331	Transcript	missense_variant	532/852	512/561	171/186	R/K	aGa/aAa		1		1	PRDX4	HGNC	HGNC:17169	protein_coding			ENSP00000368635		A6NG45	UPI00002124AE		deleterious_low_confidence(0)		3/3		PROSITE_profiles:PS51352																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	43	23675142	23675142	G	A	1	0	0	0	0	1	0	0	0	12599	942	33	3		3	PRDX4	23	23675142	Missense_Mutation	SNP	G	C3N-00217_TP	4774453	23675142	132365753	635	13073											
PDK3	0	.	GRCh38	chrX	24533977	24533977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagtttttaataagtccGcatggcgccattacaagacc	11	12	7	11	2	0	1	0	0	0	1	2	1	2	1	4	1	1	2	4	1	4	6	rs781166988		C3N-00217_TP	C3N-00217_NB	G	G																c.1126G>T	p.Ala376Ser	p.A376S	ENST00000441463	11/12	104	83	21	132	132	0	strelka-varscan-mutect	PDK3,missense_variant,p.Ala376Ser,ENST00000441463,NM_001142386.2;PDK3,missense_variant,p.Ala376Ser,ENST00000379162,NM_005391.4;	T	ENST00000441463	Transcript	missense_variant	1126/1921	1126/1248	376/415	A/S	Gca/Tca	rs781166988	1		1	PDK3	HGNC	HGNC:8811	protein_coding	YES	CCDS48088.1	ENSP00000387536	Q15120		UPI00002124D4	NM_001142386.2	tolerated(0.48)		11/12		hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF21																	MODERATE	1	SNV	2			1										PASS		rs781166988	.												T	3	4	43	24533977	24533977	G	T	1	0	0	0	0	1	0	0	0	11765	1087	38	1		1	PDK3	23	24533977	Missense_Mutation	SNP	G	C3N-00217_TP	858835	24533977	131506918	636	13074											
MAGEB10	0	.	GRCh38	chrX	27821480	27821480	+	Silent	SNP	C	C	T																															agttcacttgatggggcatcCaacaatccccatggacttcg																								rs772388385		C3N-00217_TP	C3N-00217_NB	C	C																c.174C>T	p.=	p.S58S	ENST00000356790	3/3	160	140	20	189	189	0	strelka-mutect	MAGEB10,synonymous_variant,p.=,ENST00000356790,NM_182506.3;MAGEB10,synonymous_variant,p.=,ENST00000614159,;	T	ENST00000356790	Transcript	synonymous_variant	419/1953	174/1044	58/347	S	tcC/tcT	rs772388385	1		1	MAGEB10	HGNC	HGNC:25377	protein_coding	YES	CCDS35221.1	ENSP00000368304	Q96LZ2		UPI000013F050	NM_182506.3			3/3		Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF36,SMART_domains:SM01392																	LOW	1	SNV	1			1										PASS		rs772388385	.												T	2	4	43	27821480	27821480	C	T	1	0	0	0	0	0	0	0	1	9088	581	21	3		3	MAGEB10	23	27821480	Silent	SNP	C	C3N-00217_TP	3287503	27821480	128219415	637	13075	303	2									
MAGEB10	0	.	GRCh38	chrX	27821488	27821488	+	Missense_Mutation	SNP	C	C	A																															tgatggggcatccaacaatcCccatggacttcgggaagccc																								novel		C3N-00217_TP	C3N-00217_NB	C	C																c.182C>A	p.Pro61His	p.P61H	ENST00000356790	3/3	167	142	25	190	190	0	strelka-mutect	MAGEB10,missense_variant,p.Pro61His,ENST00000356790,NM_182506.3;MAGEB10,missense_variant,p.Pro61His,ENST00000614159,;	A	ENST00000356790	Transcript	missense_variant	427/1953	182/1044	61/347	P/H	cCc/cAc		1		1	MAGEB10	HGNC	HGNC:25377	protein_coding	YES	CCDS35221.1	ENSP00000368304	Q96LZ2		UPI000013F050	NM_182506.3	tolerated(0.05)		3/3		Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF36,SMART_domains:SM01392																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	27821488	27821488	C	A	1	0	0	0	0	1	0	0	0	9088	623	22	2		2	MAGEB10	23	27821488	Missense_Mutation	SNP	C	C3N-00217_TP	8	27821488	128219407	638	13076	303	2									
MAGEB10	0	.	GRCh38	chrX	27822224	27822224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagtgaattctcaaactgGtatacagaggctttacaaga	14	10	8	9	0	1	3	1	1	1	2	2	3	1	3	1	2	3	2	1	2	6	5	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.918G>T	p.Trp306Cys	p.W306C	ENST00000356790	3/3	205	152	53	309	309	0	strelka-varscan-mutect	MAGEB10,missense_variant,p.Trp306Cys,ENST00000356790,NM_182506.3;MAGEB10,missense_variant,p.Trp306Cys,ENST00000614159,;	T	ENST00000356790	Transcript	missense_variant	1163/1953	918/1044	306/347	W/C	tgG/tgT		1		1	MAGEB10	HGNC	HGNC:25377	protein_coding	YES	CCDS35221.1	ENSP00000368304	Q96LZ2		UPI000013F050	NM_182506.3	tolerated(0.16)		3/3		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF36																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	27822224	27822224	G	T	1	0	0	0	0	1	0	0	0	9088	1270	44	2		2	MAGEB10	23	27822224	Missense_Mutation	SNP	G	C3N-00217_TP	736	27822224	128218671	639	13077											
DCAF8L1	0	.	GRCh38	chrX	27981317	27981317	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtaagccacctgtgctGccctcttggtgggacatctc	5	12	11	13	0	3	0	0	0	3	0	4	1	3	1	3	3	3	2	3	3	1	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.18C>A	p.=	p.G6G	ENST00000441525	1/1	76	59	17	69	69	0	strelka-varscan-mutect	DCAF8L1,synonymous_variant,p.=,ENST00000441525,NM_001017930.1;	T	ENST00000441525	Transcript	synonymous_variant	133/3457	18/1803	6/600	G	ggC/ggA		1		-1	DCAF8L1	HGNC	HGNC:31810	protein_coding	YES	CCDS35222.1	ENSP00000405222	A6NGE4		UPI000022DD1B	NM_001017930.1			1/1																			LOW	1	SNV				1										PASS		.	.												T	2	4	43	27981317	27981317	G	T	1	0	0	0	0	0	0	0	1	4078	1306	46	2		2	DCAF8L1	23	27981317	Silent	SNP	G	C3N-00217_TP	159093	27981317	128059578	640	13078											
MAGEB3	0	.	GRCh38	chrX	30236885	30236885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagaaagagtccaagctGcagctatgctcaatgatggc	14	7	12	8	0	1	3	1	1	0	2	2	4	2	4	1	2	4	4	1	2	5	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.961G>T	p.Ala321Ser	p.A321S	ENST00000361644	5/5	146	83	63	163	163	0	strelka-varscan-mutect	MAGEB3,missense_variant,p.Ala321Ser,ENST00000361644,NM_002365.4;MAGEB3,missense_variant,p.Ala321Ser,ENST00000620842,;	T	ENST00000361644	Transcript	missense_variant	1698/2305	961/1041	321/346	A/S	Gca/Tca		1		1	MAGEB3	HGNC	HGNC:6810	protein_coding	YES	CCDS14220.1	ENSP00000355198	O15480		UPI000013E79F	NM_002365.4	tolerated(0.44)		5/5		hmmpanther:PTHR11736:SF53,hmmpanther:PTHR11736																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	43	30236885	30236885	G	T	1	0	0	0	0	1	0	0	0	9093	1319	46	2		2	MAGEB3	23	30236885	Missense_Mutation	SNP	G	C3N-00217_TP	2255568	30236885	125804010	641	13079											
SYTL5	0	.	GRCh38	chrX	38072064	38072064	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggcagctaaggattataaCtggtgagtggttttttgaag	11	14	13	3	0	0	2	0	2	0	0	0	3	0	3	0	4	2	3	0	4	5	7	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.347C>G	p.Thr116Ser	p.T116S	ENST00000456733	3/17	101	82	19	148	148	0	strelka-varscan-mutect	SYTL5,missense_variant,p.Thr116Ser,ENST00000297875,NM_138780.2,NM_001163335.1;SYTL5,missense_variant,p.Thr116Ser,ENST00000456733,NM_001163334.1;RP5-972B16.2,intron_variant,,ENST00000465127,;	G	ENST00000456733	Transcript	missense_variant	703/4704	347/2259	116/752	T/S	aCt/aGt		1		1	SYTL5	HGNC	HGNC:15589	protein_coding	YES	CCDS55399.1	ENSP00000395220	Q8TDW5		UPI0000F0599F	NM_001163334.1	tolerated(0.08)		3/17		Gene3D:3.30.40.10,Pfam_domain:PF02318,PROSITE_profiles:PS50916,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF13,Superfamily_domains:SSF57903																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	38072064	38072064	C	G	1	0	0	0	0	1	0	0	0	15880	565	20	4		4	SYTL5	23	38072064	Missense_Mutation	SNP	C	C3N-00217_TP	7835179	38072064	117968831	642	13080											
BCOR	0	.	GRCh38	chrX	40073223	40073223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacaaactctggacggccgGtgggaagcccatagggcagc	10	5	14	12	2	2	0	1	0	1	0	2	2	2	2	2	5	3	1	2	5	3	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.2123C>A	p.Thr708Asn	p.T708N	ENST00000378444	4/15	140	116	24	175	174	1	strelka-varscan-mutect	BCOR,missense_variant,p.Thr708Asn,ENST00000342274,NM_001123383.1;BCOR,missense_variant,p.Thr708Asn,ENST00000378444,NM_001123385.1;BCOR,missense_variant,p.Thr708Asn,ENST00000378455,NM_001123384.1;BCOR,missense_variant,p.Thr708Asn,ENST00000397354,NM_017745.5;BCOR,missense_variant,p.Thr708Asn,ENST00000406200,;BCOR,missense_variant,p.Thr115Asn,ENST00000615339,;BCOR,downstream_gene_variant,,ENST00000412952,;BCOR,non_coding_transcript_exon_variant,,ENST00000490976,;	T	ENST00000378444	Transcript	missense_variant	2352/6358	2123/5268	708/1755	T/N	aCc/aAc		1		-1	BCOR	HGNC	HGNC:20893	protein_coding	YES	CCDS48093.1	ENSP00000367705	Q6W2J9		UPI00002318CF	NM_001123385.1	deleterious(0.04)		4/15		hmmpanther:PTHR24117:SF8,hmmpanther:PTHR24117																	MODERATE	1	SNV	1			1										PASS		rs1353823807	.												T	3	4	43	40073223	40073223	G	T	1	0	0	0	0	1	0	0	0	1533	1261	44	2		2	BCOR	23	40073223	Missense_Mutation	SNP	G	C3N-00217_TP	2001159	40073223	115967672	643	13081											
SSX5	0	.	GRCh38	chrX	48190166	48190166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccttctcagaggtatttaGttttcctgaggggcgcagct	8	13	11	9	1	1	2	1	1	1	1	3	2	2	2	2	3	2	4	2	3	3	6	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.556C>A	p.Leu186Ile	p.L186I	ENST00000311798	7/9	160	130	30	200	200	0	strelka-varscan-mutect	SSX5,missense_variant,p.Leu186Ile,ENST00000311798,NM_021015.3;SSX5,missense_variant,p.Leu145Ile,ENST00000347757,NM_175723.1;SSX5,missense_variant,p.Leu145Ile,ENST00000376923,;SSX5,missense_variant,p.Leu85Ile,ENST00000403001,;	T	ENST00000311798	Transcript	missense_variant	609/1384	556/690	186/229	L/I	Cta/Ata		1		-1	SSX5	HGNC	HGNC:11339	protein_coding	YES	CCDS14288.1	ENSP00000312415	O60225		UPI000013F201	NM_021015.3	tolerated(0.23)		7/9		hmmpanther:PTHR14112:SF9,hmmpanther:PTHR14112																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	48190166	48190166	G	T	1	0	0	0	0	1	0	0	0	15586	1020	36	2		2	SSX5	23	48190166	Missense_Mutation	SNP	G	C3N-00217_TP	8116943	48190166	107850729	644	13082											
PIM2	0	.	GRCh38	chrX	48914274	48914274	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtttgggggccaggcaccGgcggattagggcacagcagt	8	6	18	9	2	0	0	0	0	0	0	0	1	0	1	2	7	1	4	2	7	1	2	rs782498335		C3N-00217_TP	C3N-00217_NB	G	G																c.793C>A	p.=	p.R265R	ENST00000376509	6/6	244	206	38	279	279	0	strelka-varscan-mutect	PIM2,synonymous_variant,p.=,ENST00000376509,NM_006875.3;SLC35A2,upstream_gene_variant,,ENST00000376521,NM_001042498.2;SLC35A2,upstream_gene_variant,,ENST00000413561,;SLC35A2,upstream_gene_variant,,ENST00000445167,NM_001032289.2;SLC35A2,upstream_gene_variant,,ENST00000247138,NM_005660.2;SLC35A2,upstream_gene_variant,,ENST00000616181,NM_001282650.1;SLC35A2,upstream_gene_variant,,ENST00000452555,NM_001282651.1;SLC35A2,upstream_gene_variant,,ENST00000635589,NM_001282649.1;SLC35A2,upstream_gene_variant,,ENST00000376515,NM_001282648.1;SLC35A2,upstream_gene_variant,,ENST00000635015,;SLC35A2,upstream_gene_variant,,ENST00000376512,;PIM2,downstream_gene_variant,,ENST00000442430,;SLC35A2,upstream_gene_variant,,ENST00000446885,;SLC35A2,upstream_gene_variant,,ENST00000376529,NM_001282647.1;SLC35A2,upstream_gene_variant,,ENST00000635460,;SLC35A2,upstream_gene_variant,,ENST00000635238,;SLC35A2,upstream_gene_variant,,ENST00000634461,;SLC35A2,upstream_gene_variant,,ENST00000634665,;PIM2,non_coding_transcript_exon_variant,,ENST00000485431,;SLC35A2,upstream_gene_variant,,ENST00000635628,;SLC35A2,upstream_gene_variant,,ENST00000635285,;	T	ENST00000376509	Transcript	synonymous_variant	983/2075	793/936	265/311	R	Cgg/Agg	rs782498335,COSM1293018	1		-1	PIM2	HGNC	HGNC:8987	protein_coding	YES	CCDS14312.1	ENSP00000365692	Q9P1W9	A0A024QYW7	UPI0000049044	NM_006875.3			6/6		PROSITE_profiles:PS50011,hmmpanther:PTHR22984:SF10,hmmpanther:PTHR22984,PIRSF_domain:PIRSF037993,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1						LOW	1	SNV	1		0,1	1										PASS		rs782498335	.												T	2	4	43	48914274	48914274	G	T	1	0	0	0	0	0	0	0	1	12023	1115	39	1		1	PIM2	23	48914274	Silent	SNP	G	C3N-00217_TP	724108	48914274	107126621	645	13083											
SYP	0	.	GRCh38	chrX	49191745	49191745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgccgacccagagcaccaGgttcaggaagccgaacacct	11	5	11	14	2	1	1	1	0	0	1	1	4	1	2	5	2	4	3	5	2	2	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.634C>A	p.Leu212Met	p.L212M	ENST00000263233	6/7	251	208	43	240	240	0	strelka-varscan-mutect	SYP,missense_variant,p.Leu212Met,ENST00000263233,NM_003179.2;SYP,missense_variant,p.Leu212Met,ENST00000479808,;SYP,missense_variant,p.Leu102Met,ENST00000472598,;SYP,3_prime_UTR_variant,,ENST00000376303,;SYP,downstream_gene_variant,,ENST00000469389,;SYP,downstream_gene_variant,,ENST00000466635,;	T	ENST00000263233	Transcript	missense_variant	707/2498	634/942	212/313	L/M	Ctg/Atg		1		-1	SYP	HGNC	HGNC:11506	protein_coding	YES	CCDS14321.1	ENSP00000263233	P08247		UPI0000117AEC	NM_003179.2	deleterious(0.02)		6/7		Pfam_domain:PF01284,Prints_domain:PR00220,PROSITE_profiles:PS51225,hmmpanther:PTHR10306,hmmpanther:PTHR10306:SF10,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1278446763	.												T	3	4	43	49191745	49191745	G	T	1	0	0	0	0	1	0	0	0	15855	991	35	2		2	SYP	23	49191745	Missense_Mutation	SNP	G	C3N-00217_TP	277471	49191745	106849150	646	13084											
PPP1R3F	0	.	GRCh38	chrX	49270267	49270267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctggagcgcttggggcGcgtcatggtggagctggagg	4	8	20	9	4	2	0	1	0	1	0	2	3	2	3	1	7	2	2	1	7	0	1	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.398G>A	p.Arg133His	p.R133H	ENST00000055335	1/4	35	30	5	37	37	0	strelka-varscan-mutect	PPP1R3F,missense_variant,p.Arg133His,ENST00000055335,NM_033215.4;PPP1R3F,intron_variant,,ENST00000466508,;PPP1R3F,intron_variant,,ENST00000495799,NM_001184745.1;PPP1R3F,upstream_gene_variant,,ENST00000471261,;LL0XNC01-7P3.1,upstream_gene_variant,,ENST00000602455,;	A	ENST00000055335	Transcript	missense_variant	414/3421	398/2400	133/799	R/H	cGc/cAc		1		1	PPP1R3F	HGNC	HGNC:14944	protein_coding	YES	CCDS35254.1	ENSP00000055335	Q6ZSY5		UPI00001D7BA8	NM_033215.4	deleterious(0.02)		1/4		PROSITE_profiles:PS51159,hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF5																	MODERATE	1	SNV	2			1										PASS		rs1193283245	.												A	3	1	43	49270267	49270267	G	A	1	0	0	0	0	1	0	0	0	12496	1087	38	1		1	PPP1R3F	23	49270267	Missense_Mutation	SNP	G	C3N-00217_TP	78522	49270267	106770628	647	13085											
DGKK	0	.	GRCh38	chrX	50470573	50470573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccggcggcggagccggtgGtggtggcggcggcggccaag	4	3	23	11	7	0	0	0	0	0	0	0	1	0	1	3	10	2	0	3	10	1	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.106C>A	p.Pro36Thr	p.P36T	ENST00000611977	1/28	108	95	13	114	114	0	strelka-varscan-mutect	DGKK,missense_variant,p.Pro36Thr,ENST00000611977,NM_001013742.3;	T	ENST00000611977	Transcript	missense_variant	166/7407	106/3816	36/1271	P/T	Cca/Aca		1		-1	DGKK	HGNC	HGNC:32395	protein_coding	YES	CCDS75980.1	ENSP00000477515	Q5KSL6		UPI00004BA922	NM_001013742.3	deleterious_low_confidence(0.03)		1/28		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	50470573	50470573	G	T	1	0	0	0	0	1	0	0	0	4278	1261	44	2		2	DGKK	23	50470573	Missense_Mutation	SNP	G	C3N-00217_TP	1200306	50470573	105570322	648	13086											
GPR173	0	.	GRCh38	chrX	53077150	53077150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaggaccagtgcatctttGagcatcgctacttcaaggcc	10	9	11	11	1	2	1	1	1	1	0	3	3	2	3	2	3	3	3	2	3	2	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.529G>C	p.Glu177Gln	p.E177Q	ENST00000332582	2/2	206	117	89	249	249	0	strelka-varscan-mutect	GPR173,missense_variant,p.Glu177Gln,ENST00000332582,NM_018969.5;GPR173,downstream_gene_variant,,ENST00000375466,;	C	ENST00000332582	Transcript	missense_variant	1020/4485	529/1122	177/373	E/Q	Gag/Cag		1		1	GPR173	HGNC	HGNC:18186	protein_coding	YES	CCDS14349.1	ENSP00000331600	Q9NS66		UPI0000050480	NM_018969.5	tolerated(0.37)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF4,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	53077150	53077150	G	C	1	0	0	0	0	1	0	0	0	6555	1291	45	4		4	GPR173	23	53077150	Missense_Mutation	SNP	G	C3N-00217_TP	2606577	53077150	102963745	649	13087											
HUWE1	0	.	GRCh38	chrX	53591079	53591079	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtgctggtgttcaacAgtgcctccattgcatgttcc	6	13	10	12	0	1	0	1	0	0	0	3	0	3	0	4	2	4	4	4	2	1	3	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.4016T>A	p.Leu1339Gln	p.L1339Q	ENST00000342160	33/83	359	303	56	402	402	0	strelka-varscan-mutect	HUWE1,missense_variant,p.Leu1339Gln,ENST00000342160,;HUWE1,missense_variant,p.Leu1339Gln,ENST00000262854,NM_031407.6;HUWE1,missense_variant,p.Leu1330Gln,ENST00000612484,;HUWE1,non_coding_transcript_exon_variant,,ENST00000218328,;	T	ENST00000342160	Transcript	missense_variant	4474/14796	4016/13125	1339/4374	L/Q	cTg/cAg		1		-1	HUWE1	HGNC	HGNC:30892	protein_coding	YES	CCDS35301.1	ENSP00000340648	Q7Z6Z7	A0A024R9W5	UPI00004A0DAC		deleterious(0)		33/83		Gene3D:1.10.8.10,Pfam_domain:PF00627,PROSITE_profiles:PS50030,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF291,SMART_domains:SM00165,Superfamily_domains:SSF46934																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	53591079	53591079	A	T	1	0	0	0	0	1	0	0	0	7357	188	7	4		4	HUWE1	23	53591079	Missense_Mutation	SNP	A	C3N-00217_TP	513929	53591079	102449816	650	13088											
ITIH6	0	.	GRCh38	chrX	54758224	54758224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctcctggtctcctcaCtggcctgtttgggttgcacc	2	15	10	14	0	4	0	1	0	3	0	6	0	4	0	4	3	1	3	4	3	0	2	rs751222928		C3N-00217_TP	C3N-00217_NB	C	C																c.1850G>A	p.Ser617Asn	p.S617N	ENST00000218436	8/13	411	345	66	399	399	0	strelka-varscan-mutect	ITIH6,missense_variant,p.Ser617Asn,ENST00000218436,NM_198510.2;	T	ENST00000218436	Transcript	missense_variant	1880/4968	1850/3942	617/1313	S/N	aGt/aAt	rs751222928,COSM5616346	1		-1	ITIH6	HGNC	HGNC:28907	protein_coding	YES	CCDS14361.1	ENSP00000218436	Q6UXX5		UPI00000540C8	NM_198510.2	tolerated(0.36)		8/13		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF10											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs751222928	.												T	3	4	43	54758224	54758224	C	T	1	0	0	0	0	1	0	0	0	7814	565	20	3		3	ITIH6	23	54758224	Missense_Mutation	SNP	C	C3N-00217_TP	1167145	54758224	101282671	651	13089											
FOXR2	0	.	GRCh38	chrX	55623864	55623864	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttgccaaatacagagtCggagtaatgaagcccccaga	14	7	9	11	1	0	3	0	1	0	2	2	4	1	4	4	1	3	1	4	1	4	3	rs377704574		C3N-00217_TP	C3N-00217_NB	C	C																c.153C>A	p.=	p.V51V	ENST00000339140	1/1	249	216	33	271	270	1	strelka-varscan-mutect	FOXR2,synonymous_variant,p.=,ENST00000339140,NM_198451.3;	A	ENST00000339140	Transcript	synonymous_variant	465/1926	153/936	51/311	V	gtC/gtA	rs377704574	1		1	FOXR2	HGNC	HGNC:30469	protein_coding	YES	CCDS35308.1	ENSP00000427329	Q6PJQ5		UPI00001603CE	NM_198451.3			1/1		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF73																	LOW	1	SNV				1										PASS		rs377704574	.												A	2	1	43	55623864	55623864	C	A	1	0	0	0	0	0	0	0	1	5897	871	31	1		1	FOXR2	23	55623864	Silent	SNP	C	C3N-00217_TP	865640	55623864	100417031	652	13090											
UBQLN2	0	.	GRCh38	chrX	56564769	56564769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctccgtggggagtagttCctcctctggggaaggtacgc	5	10	15	11	2	1	0	0	0	1	0	4	2	4	2	4	5	2	3	4	5	3	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.896C>A	p.Ser299Tyr	p.S299Y	ENST00000338222	1/1	232	188	44	212	212	0	strelka-varscan-mutect	UBQLN2,missense_variant,p.Ser299Tyr,ENST00000338222,NM_013444.3;	A	ENST00000338222	Transcript	missense_variant	1131/4230	896/1875	299/624	S/Y	tCc/tAc		1		1	UBQLN2	HGNC	HGNC:12509	protein_coding	YES	CCDS14374.1	ENSP00000345195	Q9UHD9		UPI000004A059	NM_013444.3	deleterious(0)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR10677:SF5,hmmpanther:PTHR10677																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	43	56564769	56564769	C	A	1	0	0	0	0	1	0	0	0	17421	855	30	2		2	UBQLN2	23	56564769	Missense_Mutation	SNP	C	C3N-00217_TP	940905	56564769	99476126	653	13091											
ZXDB	0	.	GRCh38	chrX	57592376	57592376	+	Frame_Shift_Del	DEL	G	G	-																															acgtggagaccgcgggctccGgtcaggccgcagggcctgtg																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.329delG	p.Gly110ValfsTer8	p.G110Vfs*8	ENST00000374888	1/1	158	133	25	162	162	0	sindel-varindel-pindel	ZXDB,frameshift_variant,p.Gly110ValfsTer8,ENST00000374888,NM_007157.3;	-	ENST00000374888	Transcript	frameshift_variant	725/5894	328/2412	110/803	G/X	Ggt/gt		1		1	ZXDB	HGNC	HGNC:13199	protein_coding	YES	CCDS35313.1	ENSP00000364023	P98169		UPI000013C495	NM_007157.3			1/1		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF85																	HIGH	1	deletion		1		1										PASS		.	.												-	7	5	43	57592376	57592376	G	-	1	0	1	0	1	0	0	0	0	18854	1116	39	0		0	ZXDB	23	57592376	Frame_Shift_Del	DEL	G	C3N-00217_TP	1027607	57592376	98448519	654	13092											
ZXDA	0	.	GRCh38	chrX	57908852	57908852	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtagaggctactgcgAgcagagaacctggcacagca	13	6	13	9	1	0	3	0	1	0	2	0	5	0	3	1	2	5	5	1	2	4	2	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.1569T>C	p.=	p.A523A	ENST00000358697	1/1	143	121	22	135	135	0	strelka-varscan-mutect	ZXDA,synonymous_variant,p.=,ENST00000358697,NM_007156.4;	G	ENST00000358697	Transcript	synonymous_variant	1969/4113	1569/2400	523/799	A	gcT/gcC		1		-1	ZXDA	HGNC	HGNC:13198	protein_coding	YES	CCDS14376.1	ENSP00000351530	P98168		UPI000013C494	NM_007156.4			1/1		PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF85,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV				1										PASS		.	.												G	2	3	43	57908852	57908852	A	G	1	0	0	0	0	0	0	0	1	18853	291	11	5		5	ZXDA	23	57908852	Silent	SNP	A	C3N-00217_TP	316476	57908852	98132043	655	13093											
HEPH	0	.	GRCh38	chrX	66266555	66266555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccattagtgtcacccttctGctcgttgttctggctcttgg	3	16	10	12	1	4	0	1	0	3	0	5	0	4	0	2	2	1	4	2	2	1	5	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3522G>A	p.=	p.L1174L	ENST00000519389	21/21	394	342	52	404	404	0	strelka-varscan-mutect	HEPH,synonymous_variant,p.=,ENST00000519389,NM_138737.4;HEPH,synonymous_variant,p.=,ENST00000343002,;HEPH,synonymous_variant,p.=,ENST00000441993,NM_001130860.3;HEPH,synonymous_variant,p.=,ENST00000336279,NM_014799.3;HEPH,synonymous_variant,p.=,ENST00000419594,NM_001282141.1;	A	ENST00000519389	Transcript	synonymous_variant	3701/6013	3522/3639	1174/1212	L	ctG/ctA		1		1	HEPH	HGNC	HGNC:4866	protein_coding	YES	CCDS14384.3	ENSP00000430620	Q9BQS7		UPI0001C06560	NM_138737.4			21/21		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10127:SF622,hmmpanther:PTHR10127																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	43	66266555	66266555	G	A	1	0	0	0	0	0	0	0	1	6938	1306	46	3		3	HEPH	23	66266555	Silent	SNP	G	C3N-00217_TP	8357703	66266555	89774340	656	13094											
AR	0	.	GRCh38	chrX	67680857	67680857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaacaaacttgaaagctGtctcatggcctttgaatcat	14	11	8	8	0	2	3	2	2	1	1	3	4	2	3	1	1	3	1	1	1	4	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1903G>T	p.Val635Phe	p.V635F	ENST00000612010	4/6	45	27	18	81	80	1	strelka-varscan-mutect	AR,missense_variant,p.Val635Phe,ENST00000612010,;AR,intron_variant,,ENST00000612452,;AR,intron_variant,,ENST00000396044,;AR,intron_variant,,ENST00000374690,NM_000044.3;AR,intron_variant,,ENST00000504326,;AR,intron_variant,,ENST00000613054,;AR,intron_variant,,ENST00000396043,NM_001011645.2;AR,intron_variant,,ENST00000513847,;AR,3_prime_UTR_variant,,ENST00000514029,;	T	ENST00000612010	Transcript	missense_variant	2230/3896	1903/1929	635/642	V/F	Gtc/Ttc		1		1	AR	HGNC	HGNC:644	protein_coding			ENSP00000482407		A0A087WZ66	UPI0004E4CA27				4/6																			MODERATE		SNV	5			1										PASS		rs986094499	.												T	3	4	43	67680857	67680857	G	T	1	0	0	0	0	1	0	0	0	958	1377	48	2		2	AR	23	67680857	Missense_Mutation	SNP	G	C3N-00217_TP	1414302	67680857	88360038	657	13095											
ERCC6L	0	.	GRCh38	chrX	72208212	72208212	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatccgattgaggtttctGgtccgttcatccttgctagg	6	15	11	9	2	2	2	1	2	1	0	5	3	5	2	3	3	1	3	3	3	2	5	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.555C>A	p.=	p.T185T	ENST00000334463	2/2	202	183	19	258	258	0	strelka-varscan-mutect	ERCC6L,synonymous_variant,p.=,ENST00000373657,;ERCC6L,synonymous_variant,p.=,ENST00000334463,NM_017669.2;PIN4,intron_variant,,ENST00000423432,NM_001170747.1;PIN4,intron_variant,,ENST00000496835,;PIN4,intron_variant,,ENST00000439980,;	T	ENST00000334463	Transcript	synonymous_variant	691/4243	555/3753	185/1250	T	acC/acA		1		-1	ERCC6L	HGNC	HGNC:20794	protein_coding	YES	CCDS35329.1	ENSP00000334675	Q2NKX8		UPI000021233E	NM_017669.2			2/2		Gene3D:3.40.50.300,Pfam_domain:PF00176,PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF756,SMART_domains:SM00487,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	72208212	72208212	G	T	1	0	0	0	0	0	0	0	1	5067	1335	47	2		2	ERCC6L	23	72208212	Silent	SNP	G	C3N-00217_TP	4527355	72208212	83832683	658	13096											
RLIM	0	.	GRCh38	chrX	74595852	74595852	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctcataagcctataatcTtcttcactcaggttatttac	10	17	3	11	0	6	0	3	0	3	0	7	0	6	0	1	1	2	1	1	1	5	8	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.126A>C	p.Glu42Asp	p.E42D	ENST00000332687	2/4	86	74	12	120	120	0	strelka-varscan-mutect	RLIM,missense_variant,p.Glu42Asp,ENST00000332687,NM_016120.3;RLIM,missense_variant,p.Glu42Asp,ENST00000349225,NM_183353.2;	G	ENST00000332687	Transcript	missense_variant	345/8317	126/1875	42/624	E/D	gaA/gaC		1		-1	RLIM	HGNC	HGNC:13429	protein_coding	YES	CCDS14427.1	ENSP00000328059	Q9NVW2		UPI000006FD6A	NM_016120.3	tolerated(0.13)		2/4																			MODERATE	1	SNV	1			1										PASS		rs1464627509	.												G	3	3	43	74595852	74595852	T	G	1	0	0	0	0	1	0	0	0	13566	1606	56	5		5	RLIM	23	74595852	Missense_Mutation	SNP	T	C3N-00217_TP	2387640	74595852	81445043	659	13097											
MAGEE1	0	.	GRCh38	chrX	76429285	76429285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agattctgagggtcctaaggGtgcagaaggccctatagaat	12	9	13	7	0	1	4	0	1	1	3	2	4	2	4	2	3	1	1	2	3	5	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1355G>T	p.Gly452Val	p.G452V	ENST00000361470	1/1	228	190	38	300	298	2	strelka-varscan-mutect	MAGEE1,missense_variant,p.Gly452Val,ENST00000361470,NM_020932.2;	T	ENST00000361470	Transcript	missense_variant	1562/3630	1355/2874	452/957	G/V	gGt/gTt		1		1	MAGEE1	HGNC	HGNC:24934	protein_coding	YES	CCDS14433.1	ENSP00000354912	Q9HCI5		UPI000006F138	NM_020932.2	deleterious(0.02)		1/1																			MODERATE	1	SNV				1										PASS		.	.												T	3	4	43	76429285	76429285	G	T	1	0	0	0	0	1	0	0	0	9103	1261	44	2		2	MAGEE1	23	76429285	Missense_Mutation	SNP	G	C3N-00217_TP	1833433	76429285	79611610	660	13098											
PGK1	0	.	GRCh38	chrX	78124967	78124967	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtcctgtgggggtatttGaatgggaagcttttgcccgg	6	13	16	6	1	0	1	0	1	0	0	1	2	1	2	2	5	2	2	2	5	3	4	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1030G>T	p.Glu344Ter	p.E344*	ENST00000373316	9/11	243	202	41	320	320	0	strelka-varscan-mutect	PGK1,stop_gained,p.Glu344Ter,ENST00000373316,NM_000291.3;TAF9B,downstream_gene_variant,,ENST00000341864,NM_015975.4;PGK1,non_coding_transcript_exon_variant,,ENST00000476531,;PGK1,downstream_gene_variant,,ENST00000491291,;PGK1,downstream_gene_variant,,ENST00000474281,;	T	ENST00000373316	Transcript	stop_gained	1197/4887	1030/1254	344/417	E/*	Gaa/Taa		1		1	PGK1	HGNC	HGNC:8896	protein_coding	YES	CCDS14438.1	ENSP00000362413	P00558	V9HWF4	UPI00000727EE	NM_000291.3			9/11		Gene3D:3.40.50.1270,HAMAP:MF_00145,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,Prints_domain:PR00477,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF12,Superfamily_domains:SSF53748																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	43	78124967	78124967	G	T	1	0	0	0	0	0	1	0	0	11879	1291	45	2		2	PGK1	23	78124967	Nonsense_Mutation	SNP	G	C3N-00217_TP	1695682	78124967	77915928	661	13099											
BRWD3	0	.	GRCh38	chrX	80682609	80682609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaataaggcagataatCgcagcatcatgctatagatc	15	11	7	8	1	2	2	2	0	0	2	4	2	2	2	0	1	2	4	0	1	5	5			C3N-00217_TP	C3N-00217_NB	C	C																c.4253G>T	p.Arg1418Leu	p.R1418L	ENST00000373275	38/41	151	128	23	213	213	0	strelka-varscan-mutect	BRWD3,missense_variant,p.Arg1418Leu,ENST00000373275,NM_153252.4;BRWD3,non_coding_transcript_exon_variant,,ENST00000473691,;	A	ENST00000373275	Transcript	missense_variant	4470/11381	4253/5409	1418/1802	R/L	cGa/cTa	COSM4666262	1		-1	BRWD3	HGNC	HGNC:17342	protein_coding	YES	CCDS14447.1	ENSP00000362372	Q6RI45		UPI000045785B	NM_153252.4	deleterious(0)		38/41		hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266,Gene3D:1.20.920.10,SMART_domains:SM00297,Superfamily_domains:SSF47370											1						MODERATE	1	SNV	1		1	1										PASS		rs1401711800	.												A	3	1	43	80682609	80682609	C	A	1	0	0	0	0	1	0	0	0	1700	884	31	1		1	BRWD3	23	80682609	Missense_Mutation	SNP	C	C3N-00217_TP	2557642	80682609	75358286	662	13100											
CYLC1	0	.	GRCh38	chrX	83874608	83874608	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaagatgcctcctccacctCcaaaaccaagatatgctcct	12	8	5	16	0	0	2	0	0	0	2	4	2	4	2	7	0	3	2	7	0	5	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1900C>A	p.Pro634Thr	p.P634T	ENST00000329312	4/5	83	76	7	97	97	0	strelka-varscan-mutect	CYLC1,missense_variant,p.Pro634Thr,ENST00000329312,NM_021118.2;CYLC1,intron_variant,,ENST00000621735,NM_001271680.1;	A	ENST00000329312	Transcript	missense_variant	1937/2106	1900/1956	634/651	P/T	Cca/Aca		1		1	CYLC1	HGNC	HGNC:2582	protein_coding	YES	CCDS35341.1	ENSP00000331556	P35663		UPI0000251E1D	NM_021118.2	tolerated(0.07)		4/5		Low_complexity_(Seg):seg,hmmpanther:PTHR16742,hmmpanther:PTHR16742:SF1																	MODERATE	1	SNV	1			1										PASS		rs1007098949	.												A	3	1	43	83874608	83874608	C	A	1	0	0	0	0	1	0	0	0	3944	855	30	2		2	CYLC1	23	83874608	Missense_Mutation	SNP	C	C3N-00217_TP	3191999	83874608	72166287	663	13101											
POF1B	0	.	GRCh38	chrX	85359614	85359614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatatgtagtaagtttcactGttggagaatgaagttcctgt	11	15	11	4	0	1	2	1	1	0	1	2	4	2	2	1	1	0	5	1	1	5	6	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.374C>A	p.Thr125Lys	p.T125K	ENST00000373145	4/16	80	69	11	136	136	0	strelka-varscan-mutect	POF1B,missense_variant,p.Thr125Lys,ENST00000262753,NM_024921.3;POF1B,missense_variant,p.Thr125Lys,ENST00000373145,NM_001307940.1;	T	ENST00000373145	Transcript	missense_variant	494/1972	374/1788	125/595	T/K	aCa/aAa		1		-1	POF1B	HGNC	HGNC:13711	protein_coding	YES	CCDS78497.1	ENSP00000362238	Q8WVV4		UPI00001AE9F1	NM_001307940.1	deleterious_low_confidence(0)		4/16		hmmpanther:PTHR22546																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	85359614	85359614	G	T	1	0	0	0	0	1	0	0	0	12291	1377	48	2		2	POF1B	23	85359614	Missense_Mutation	SNP	G	C3N-00217_TP	1485006	85359614	70681281	664	13102											
CPXCR1	0	.	GRCh38	chrX	88753917	88753917	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaggctgcagggtgtcAgaataccatgtgggtaaagc	10	9	13	9	0	2	1	2	0	1	1	3	1	2	1	1	3	3	3	1	3	4	2	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.503A>C	p.Gln168Pro	p.Q168P	ENST00000276127	3/3	112	73	39	202	202	0	strelka-varscan-mutect	CPXCR1,missense_variant,p.Gln168Pro,ENST00000276127,NM_033048.5;CPXCR1,missense_variant,p.Gln168Pro,ENST00000373111,NM_001184771.1;CPXCR1,missense_variant,p.Gln168Pro,ENST00000614120,;	C	ENST00000276127	Transcript	missense_variant	762/1630	503/906	168/301	Q/P	cAg/cCg		1		1	CPXCR1	HGNC	HGNC:2332	protein_coding	YES	CCDS14458.1	ENSP00000276127	Q8N123		UPI000007369F	NM_033048.5	tolerated(0.1)		3/3		hmmpanther:PTHR42213,hmmpanther:PTHR42213:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	43	88753917	88753917	A	C	1	0	0	0	0	1	0	0	0	3634	188	7	5		5	CPXCR1	23	88753917	Missense_Mutation	SNP	A	C3N-00217_TP	3394303	88753917	67286978	665	13103											
CPXCR1	0	.	GRCh38	chrX	88754030	88754030	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgagggtgcactactacCgtcccctcactgagagaatg	9	9	10	13	2	1	2	1	1	0	1	3	4	2	2	3	1	3	1	3	1	3	3	rs773920980		C3N-00217_TP	C3N-00217_NB	C	C																c.616C>A	p.Arg206Ser	p.R206S	ENST00000276127	3/3	145	122	23	238	237	1	strelka-varscan-mutect	CPXCR1,missense_variant,p.Arg206Ser,ENST00000276127,NM_033048.5;CPXCR1,missense_variant,p.Arg206Ser,ENST00000373111,NM_001184771.1;CPXCR1,missense_variant,p.Arg206Ser,ENST00000614120,;	A	ENST00000276127	Transcript	missense_variant	875/1630	616/906	206/301	R/S	Cgt/Agt	rs773920980,COSM77517	1		1	CPXCR1	HGNC	HGNC:2332	protein_coding	YES	CCDS14458.1	ENSP00000276127	Q8N123		UPI000007369F	NM_033048.5	tolerated(0.4)		3/3		hmmpanther:PTHR42213,hmmpanther:PTHR42213:SF1											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs773920980	.												A	3	1	43	88754030	88754030	C	A	1	0	0	0	0	1	0	0	0	3634	652	23	1		1	CPXCR1	23	88754030	Missense_Mutation	SNP	C	C3N-00217_TP	113	88754030	67286865	666	13104											
SYTL4	0	.	GRCh38	chrX	100700974	100700974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctgatgaaggagggaCtgtcccactgtctctctttt	6	15	11	9	0	3	2	0	2	3	0	5	4	4	4	1	2	0	0	1	2	1	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.462G>T	p.Gln154His	p.Q154H	ENST00000372989	7/19	204	150	54	203	203	0	strelka-varscan-mutect	SYTL4,missense_variant,p.Gln154His,ENST00000372981,;SYTL4,missense_variant,p.Gln154His,ENST00000372989,NM_080737.2;SYTL4,missense_variant,p.Gln154His,ENST00000276141,NM_001174068.1;SYTL4,missense_variant,p.Gln154His,ENST00000263033,NM_001129896.2;	A	ENST00000372989	Transcript	missense_variant	794/3885	462/2016	154/671	Q/H	caG/caT		1		-1	SYTL4	HGNC	HGNC:15588	protein_coding	YES	CCDS14472.1	ENSP00000362080	Q96C24	A0A024RCF8	UPI00001AE9F2	NM_080737.2	tolerated(0.1)		7/19		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	100700974	100700974	C	A	1	0	0	0	0	1	0	0	0	15879	564	20	2		2	SYTL4	23	100700974	Missense_Mutation	SNP	C	C3N-00217_TP	11946944	100700974	55339921	667	13105											
HNRNPH2	0	.	GRCh38	chrX	101413230	101413230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatggaggtcctgctagccaGcagctgagtggtggttatgg	7	11	16	7	0	0	1	0	1	0	0	1	2	1	2	2	5	4	4	2	5	3	3			C3N-00217_TP	C3N-00217_NB	G	G																c.1242G>T	p.Gln414His	p.Q414H	ENST00000316594	2/2	181	124	57	152	152	0	strelka-varscan-mutect	HNRNPH2,missense_variant,p.Gln414His,ENST00000316594,NM_001032393.2,NM_019597.4;RPL36A-HNRNPH2,downstream_gene_variant,,ENST00000409338,;RPL36A-HNRNPH2,downstream_gene_variant,,ENST00000409170,NM_001199973.1;	T	ENST00000316594	Transcript	missense_variant	1320/2223	1242/1350	414/449	Q/H	caG/caT	COSM325505	1		1	HNRNPH2	HGNC	HGNC:5042	protein_coding	YES	CCDS14485.1	ENSP00000361927	P55795		UPI0000134537	NM_001032393.2,NM_019597.4	deleterious(0)		2/2		hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF33,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	43	101413230	101413230	G	T	1	0	0	0	0	1	0	0	0	7161	962	34	2		2	HNRNPH2	23	101413230	Missense_Mutation	SNP	G	C3N-00217_TP	712256	101413230	54627665	668	13106											
ARMCX4	0	.	GRCh38	chrX	101493229	101493229	+	Frame_Shift_Del	DEL	G	G	-																															ccagtccagtgctgggtcctGggatagccctgggagtcagg																								novel		C3N-00217_TP	C3N-00217_NB	G	G																c.4642delG	p.Asp1548IlefsTer61	p.D1548Ifs*61	ENST00000423738	2/2	207	141	66	200	200	0	sindel-varindel-pindel	ARMCX4,frameshift_variant,p.Asp1548IlefsTer61,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000455331,;	-	ENST00000423738	Transcript	frameshift_variant	4842/7424	4640/6873	1547/2290	W/X	tGg/tg		1		1	ARMCX4	HGNC	HGNC:28615	protein_coding	YES	CCDS59170.1	ENSP00000404304		F8W8Y7	UPI000442CF06	NM_001256155.2			2/2																			HIGH	1	deletion	5	2		1										PASS		.	.												-	7	5	43	101493229	101493229	G	-	1	0	1	0	1	0	0	0	0	1102	1357	47	0		0	ARMCX4	23	101493229	Frame_Shift_Del	DEL	G	C3N-00217_TP	79999	101493229	54547666	669	13107											
GPRASP2	0	.	GRCh38	chrX	102715659	102715659	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagggctaaacatcagActaatcccaggtccaggccc	12	5	10	14	0	1	1	1	0	0	1	3	1	3	1	3	4	1	2	3	4	3	2	novel		C3N-00217_TP	C3N-00217_NB	A	A																c.790A>T	p.Thr264Ser	p.T264S	ENST00000543253	5/5	190	130	60	185	185	0	strelka-varscan-mutect	GPRASP2,missense_variant,p.Thr264Ser,ENST00000543253,NM_001004051.3,NM_001184876.2,NM_001184874.2;GPRASP2,missense_variant,p.Thr264Ser,ENST00000535209,NM_001184875.2;GPRASP2,missense_variant,p.Thr264Ser,ENST00000332262,NM_001199818.1,NM_138437.5;ARMCX5-GPRASP2,downstream_gene_variant,,ENST00000486740,;GPRASP2,downstream_gene_variant,,ENST00000486814,;GPRASP2,downstream_gene_variant,,ENST00000483720,;ARMCX5-GPRASP2,downstream_gene_variant,,ENST00000602366,;ARMCX5-GPRASP2,downstream_gene_variant,,ENST00000602463,;	T	ENST00000543253	Transcript	missense_variant	1862/3935	790/2517	264/838	T/S	Act/Tct		1		1	GPRASP2	HGNC	HGNC:25169	protein_coding	YES	CCDS14501.1	ENSP00000437872	Q96D09		UPI000006F01A	NM_001004051.3,NM_001184876.2,NM_001184874.2	tolerated(0.44)		5/5		hmmpanther:PTHR15712:SF10,hmmpanther:PTHR15712																	MODERATE	1	SNV	4			1										PASS		.	.												T	3	4	43	102715659	102715659	A	T	1	0	0	0	0	1	0	0	0	6602	275	10	4		4	GPRASP2	23	102715659	Missense_Mutation	SNP	A	C3N-00217_TP	1222430	102715659	53325236	670	13108											
GPRASP2	0	.	GRCh38	chrX	102716615	102716615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgcagagtctgagagttgGtcctgcagctgcatacaatg	10	10	13	8	0	1	2	0	1	1	2	2	3	2	2	1	1	5	5	1	1	2	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1746G>T	p.Trp582Cys	p.W582C	ENST00000543253	5/5	173	118	55	173	173	0	strelka-varscan-mutect	GPRASP2,missense_variant,p.Trp582Cys,ENST00000543253,NM_001004051.3,NM_001184876.2,NM_001184874.2;GPRASP2,missense_variant,p.Trp582Cys,ENST00000535209,NM_001184875.2;GPRASP2,missense_variant,p.Trp582Cys,ENST00000332262,NM_001199818.1,NM_138437.5;BHLHB9,upstream_gene_variant,,ENST00000457056,NM_001142528.1,NM_001142527.1,NM_001142525.1,NM_001142526.1,NM_001142524.1;BHLHB9,upstream_gene_variant,,ENST00000361229,NM_030639.2;ARMCX5-GPRASP2,downstream_gene_variant,,ENST00000486740,;GPRASP2,downstream_gene_variant,,ENST00000486814,;GPRASP2,downstream_gene_variant,,ENST00000483720,;ARMCX5-GPRASP2,downstream_gene_variant,,ENST00000602366,;ARMCX5-GPRASP2,downstream_gene_variant,,ENST00000602463,;BHLHB9,upstream_gene_variant,,ENST00000483294,;BHLHB9,upstream_gene_variant,,ENST00000486988,;	T	ENST00000543253	Transcript	missense_variant	2818/3935	1746/2517	582/838	W/C	tgG/tgT		1		1	GPRASP2	HGNC	HGNC:25169	protein_coding	YES	CCDS14501.1	ENSP00000437872	Q96D09		UPI000006F01A	NM_001004051.3,NM_001184876.2,NM_001184874.2	tolerated(0.05)		5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR15712:SF10,hmmpanther:PTHR15712																	MODERATE	1	SNV	4			1										PASS		.	.												T	3	4	43	102716615	102716615	G	T	1	0	0	0	0	1	0	0	0	6602	1270	44	2		2	GPRASP2	23	102716615	Missense_Mutation	SNP	G	C3N-00217_TP	956	102716615	53324280	671	13109											
H2BFM	0	.	GRCh38	chrX	104040120	104040120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggctcccgcaggcgccaCgccaaccgccgtggggacag	7	2	15	17	6	0	0	0	0	0	0	1	2	1	1	5	4	1	2	5	4	1	0	rs200102787		C3N-00217_TP	C3N-00217_NB	C	C																c.144C>A	p.His48Gln	p.H48Q	ENST00000355016	1/3	71	51	20	83	82	1	strelka-varscan-mutect	H2BFM,missense_variant,p.His48Gln,ENST00000355016,NM_001164416.1;H2BFM,missense_variant,p.His48Gln,ENST00000598335,;H2BFM,upstream_gene_variant,,ENST00000417637,;	A	ENST00000355016	Transcript	missense_variant	172/1882	144/465	48/154	H/Q	caC/caA	rs200102787	1		1	H2BFM	HGNC	HGNC:27867	protein_coding	YES	CCDS55468.1	ENSP00000347119	P0C1H6	W0TYI6	UPI0000161AB5	NM_001164416.1	tolerated(0.28)		1/3		Gene3D:1.10.20.10,Pfam_domain:PF00125,hmmpanther:PTHR23428,hmmpanther:PTHR23428:SF34,Low_complexity_(Seg):seg,SMART_domains:SM00427,Superfamily_domains:SSF47113																	MODERATE	1	SNV	2			1										PASS		rs200102787	.												A	3	1	43	104040120	104040120	C	A	1	0	0	0	0	1	0	0	0	6813	535	19	1		1	H2BFM	23	104040120	Missense_Mutation	SNP	C	C3N-00217_TP	1323505	104040120	52000775	672	13110											
IL1RAPL2	0	.	GRCh38	chrX	105755176	105755176	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgttctttatgtttaaGacaacaaggaatatgatgcc	12	16	8	5	0	1	2	0	1	1	1	1	3	1	3	1	1	2	3	1	1	6	8			C3N-00217_TP	C3N-00217_NB	G	G																c.1193-1G>T		p.X398_splice	ENST00000372582		29	22	7	67	67	0	strelka-varscan-mutect	IL1RAPL2,splice_acceptor_variant,,ENST00000372582,NM_017416.1;IL1RAPL2,splice_acceptor_variant,,ENST00000344799,;IL1RAPL2,splice_acceptor_variant,,ENST00000485671,;	T	ENST00000372582	Transcript	splice_acceptor_variant	-/2985	1193/2061	398/686			COSM1464600	1		1	IL1RAPL2	HGNC	HGNC:5997	protein_coding	YES	CCDS14517.1	ENSP00000361663	Q9NP60		UPI0000073DF7	NM_017416.1				9/10												1						HIGH	1	SNV	1		1	1										PASS		.	.												T	5	4	43	105755176	105755176	G	T	1	0	0	0	0	0	0	1	0	7565	956	33	2		2	IL1RAPL2	23	105755176	Splice_Site	SNP	G	C3N-00217_TP	1715056	105755176	50285719	673	13111											
COL4A6	0	.	GRCh38	chrX	108188677	108188677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcacagaaacctgagtctCctgggagaaaaagacaacat	18	5	9	9	0	1	4	0	1	1	3	2	5	1	4	2	1	3	1	2	1	5	0	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1427G>T	p.Gly476Val	p.G476V	ENST00000394872	21/46	47	33	14	42	42	0	strelka-varscan-mutect	COL4A6,missense_variant,p.Gly476Val,ENST00000394872,NM_001287758.1;COL4A6,missense_variant,p.Gly476Val,ENST00000334504,NM_033641.3;COL4A6,missense_variant,p.Gly476Val,ENST00000621266,NM_001287759.1;COL4A6,missense_variant,p.Gly477Val,ENST00000372216,NM_001847.3;COL4A6,missense_variant,p.Gly476Val,ENST00000538570,NM_001287760.1;COL4A6,missense_variant,p.Gly476Val,ENST00000545689,;	A	ENST00000394872	Transcript	missense_variant,splice_region_variant	1661/6750	1427/5124	476/1707	G/V	gGa/gTa		1		-1	COL4A6	HGNC	HGNC:2208	protein_coding	YES	CCDS76010.1	ENSP00000378340		A8MXH5	UPI000387C996	NM_001287758.1	deleterious(0)		21/46																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	43	108188677	108188677	C	A	1	0	0	0	0	1	0	0	0	3484	869	30	2		2	COL4A6	23	108188677	Missense_Mutation	SNP	C	C3N-00217_TP	2433501	108188677	47852218	674	13112											
COL4A5	0	.	GRCh38	chrX	108621851	108621851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccaggcccaccaggacCtttgggaattcctggcagga	9	7	11	14	0	0	0	0	0	0	0	2	3	2	3	6	5	0	1	6	5	1	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.2726C>A	p.Pro909His	p.P909H	ENST00000328300	32/53	388	269	119	413	410	3	strelka-varscan-mutect	COL4A5,missense_variant,p.Pro909His,ENST00000328300,NM_033380.2;COL4A5,missense_variant,p.Pro909His,ENST00000361603,NM_000495.4;COL4A5,upstream_gene_variant,,ENST00000505728,;COL4A5,non_coding_transcript_exon_variant,,ENST00000483338,;	A	ENST00000328300	Transcript	missense_variant	2970/6483	2726/5076	909/1691	P/H	cCt/cAt		1		1	COL4A5	HGNC	HGNC:2207	protein_coding	YES	CCDS35366.1	ENSP00000331902	P29400		UPI000002A538	NM_033380.2	tolerated(0.54)		32/53		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF543,Pfam_domain:PF01391,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	108621851	108621851	C	A	1	0	0	0	0	1	0	0	0	3483	681	24	2		2	COL4A5	23	108621851	Missense_Mutation	SNP	C	C3N-00217_TP	433174	108621851	47419044	675	13113											
TMEM164	0	.	GRCh38	chrX	110173319	110173319	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggcccctggtatcgcatCtgggcctcgggacaccagac	7	7	12	15	3	1	1	0	0	1	1	3	2	1	2	4	4	1	2	4	4	2	2			C3N-00217_TP	C3N-00217_NB	C	C																c.762C>A	p.=	p.I254I	ENST00000372073	7/7	344	242	102	290	290	0	strelka-varscan-mutect	TMEM164,synonymous_variant,p.=,ENST00000372073,;TMEM164,synonymous_variant,p.=,ENST00000372068,NM_032227.3;TMEM164,synonymous_variant,p.=,ENST00000288381,;TMEM164,synonymous_variant,p.=,ENST00000372072,NM_017698.2;TMEM164,non_coding_transcript_exon_variant,,ENST00000464177,;TMEM164,downstream_gene_variant,,ENST00000461715,;	A	ENST00000372073	Transcript	synonymous_variant	1098/5567	762/894	254/297	I	atC/atA	COSM1464827,COSM1464828	1		1	TMEM164	HGNC	HGNC:26217	protein_coding	YES	CCDS14550.2	ENSP00000361143	Q5U3C3		UPI00004560FF				7/7		hmmpanther:PTHR20948,Pfam_domain:PF14808											1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												A	2	1	43	110173319	110173319	C	A	1	0	0	0	0	0	0	0	1	16523	903	32	2		2	TMEM164	23	110173319	Silent	SNP	C	C3N-00217_TP	1551468	110173319	45867576	676	13114											
RGAG1	0	.	GRCh38	chrX	110450692	110450692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagccccaaaacaagcaGatggccttctgtagaccaat	13	8	9	11	0	1	3	0	1	1	2	1	3	1	3	4	1	3	3	4	1	5	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.75G>T	p.Gln25His	p.Q25H	ENST00000465301	3/4	237	204	33	204	203	1	strelka-varscan-mutect	RGAG1,missense_variant,p.Gln25His,ENST00000465301,NM_020769.2;RGAG1,missense_variant,p.Gln25His,ENST00000540313,;RGAG1,missense_variant,p.Gln25His,ENST00000520821,;	T	ENST00000465301	Transcript	missense_variant	321/5426	75/4167	25/1388	Q/H	caG/caT		1		1	RGAG1	HGNC	HGNC:29245	protein_coding	YES	CCDS14552.1	ENSP00000419786	Q8NET4		UPI000006F841	NM_020769.2	deleterious_low_confidence(0.05)		3/4		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF48																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	110450692	110450692	G	T	1	0	0	0	0	1	0	0	0	13446	933	33	2		2	RGAG1	23	110450692	Missense_Mutation	SNP	G	C3N-00217_TP	277373	110450692	45590203	677	13115											
TRPC5	0	.	GRCh38	chrX	111853814	111853814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attccacgacagttgggggaGgcccctgtacatgaaggtct	9	9	13	10	1	1	1	0	1	1	0	2	3	2	2	3	4	1	2	3	4	2	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1193C>A	p.Pro398His	p.P398H	ENST00000262839	4/11	185	135	50	145	145	0	strelka-varscan-mutect	TRPC5,missense_variant,p.Pro398His,ENST00000262839,NM_012471.2;	T	ENST00000262839	Transcript	missense_variant	2112/5839	1193/2922	398/973	P/H	cCt/cAt		1		-1	TRPC5	HGNC	HGNC:12337	protein_coding	YES	CCDS14561.1	ENSP00000262839	Q9UL62		UPI00001374B6	NM_012471.2	deleterious(0)		4/11		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF24,Pfam_domain:PF00520,TIGRFAM_domain:TIGR00870																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	111853814	111853814	G	T	1	0	0	0	0	1	0	0	0	17087	1000	35	2		2	TRPC5	23	111853814	Missense_Mutation	SNP	G	C3N-00217_TP	1403122	111853814	44187081	678	13116											
TRPC5	0	.	GRCh38	chrX	111952312	111952312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccttctccacagcattgaGgaaggccttctcctctgcag	7	10	8	16	0	3	1	0	1	3	0	5	2	3	2	5	2	2	2	5	2	1	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.109C>A	p.Leu37Ile	p.L37I	ENST00000262839	2/11	223	163	60	222	221	1	strelka-varscan-mutect	TRPC5,missense_variant,p.Leu37Ile,ENST00000262839,NM_012471.2;	T	ENST00000262839	Transcript	missense_variant	1028/5839	109/2922	37/973	L/I	Ctc/Atc		1		-1	TRPC5	HGNC	HGNC:12337	protein_coding	YES	CCDS14561.1	ENSP00000262839	Q9UL62		UPI00001374B6	NM_012471.2	deleterious(0.04)		2/11		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF24,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	111952312	111952312	G	T	1	0	0	0	0	1	0	0	0	17087	1000	35	2		2	TRPC5	23	111952312	Missense_Mutation	SNP	G	C3N-00217_TP	98498	111952312	44088583	679	13117											
SLC25A43	0	.	GRCh38	chrX	119410335	119410335	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagaccctctcctttccCtttgagaccgtgaagagaaa	11	9	7	14	1	1	4	0	2	1	3	3	6	2	4	5	0	0	0	5	0	2	2	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.663C>A	p.=	p.P221P	ENST00000217909	3/5	182	123	59	127	127	0	strelka-varscan-mutect	SLC25A43,synonymous_variant,p.=,ENST00000217909,NM_145305.2;SLC25A43,non_coding_transcript_exon_variant,,ENST00000488158,;SLC25A43,non_coding_transcript_exon_variant,,ENST00000493093,;SLC25A43,intron_variant,,ENST00000484058,;	A	ENST00000217909	Transcript	synonymous_variant	1007/2783	663/1026	221/341	P	ccC/ccA		1		1	SLC25A43	HGNC	HGNC:30557	protein_coding	YES	CCDS14577.1	ENSP00000217909	Q8WUT9		UPI00001AE609	NM_145305.2			3/5		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,Prints_domain:PR00926,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF246,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	43	119410335	119410335	C	A	1	0	0	0	0	0	0	0	1	14773	668	24	2		2	SLC25A43	23	119410335	Silent	SNP	C	C3N-00217_TP	7458023	119410335	36630560	680	13118											
ZBTB33	0	.	GRCh38	chrX	120254137	120254137	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caataactcgccccctttaaCaaatatcacacctactcaga	15	9	2	15	1	2	1	2	0	0	1	3	1	2	1	3	0	3	0	3	0	6	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.722C>G	p.Thr241Arg	p.T241R	ENST00000326624	2/2	112	99	13	130	130	0	strelka-varscan-mutect	ZBTB33,missense_variant,p.Thr241Arg,ENST00000326624,NM_006777.3;ZBTB33,missense_variant,p.Thr241Arg,ENST00000557385,NM_001184742.1;TMEM255A,downstream_gene_variant,,ENST00000371369,NM_001104544.1;TMEM255A,downstream_gene_variant,,ENST00000309720,NM_017938.3;TMEM255A,downstream_gene_variant,,ENST00000440464,NM_001104545.1;TMEM255A,downstream_gene_variant,,ENST00000371352,;	G	ENST00000326624	Transcript	missense_variant	950/5211	722/2019	241/672	T/R	aCa/aGa		1		1	ZBTB33	HGNC	HGNC:16682	protein_coding	YES	CCDS14596.1	ENSP00000314153	Q86T24		UPI0000072F87	NM_006777.3	tolerated(0.13)		2/2		hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF301																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	43	120254137	120254137	C	G	1	0	0	0	0	1	0	0	0	18105	478	17	4		4	ZBTB33	23	120254137	Missense_Mutation	SNP	C	C3N-00217_TP	843802	120254137	35786758	681	13119											
ZBTB33	0	.	GRCh38	chrX	120255362	120255362	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttattcagcaggaaaaTgattcaatttttaaacaaaa	18	15	4	4	0	2	1	2	1	0	0	2	2	2	2	0	1	2	1	0	1	8	8	novel		C3N-00217_TP	C3N-00217_NB	T	T																c.1947T>A	p.Asn649Lys	p.N649K	ENST00000326624	2/2	128	111	17	170	170	0	strelka-varscan-mutect	ZBTB33,missense_variant,p.Asn649Lys,ENST00000326624,NM_006777.3;ZBTB33,missense_variant,p.Asn649Lys,ENST00000557385,NM_001184742.1;TMEM255A,downstream_gene_variant,,ENST00000371369,NM_001104544.1;TMEM255A,downstream_gene_variant,,ENST00000309720,NM_017938.3;TMEM255A,downstream_gene_variant,,ENST00000440464,NM_001104545.1;TMEM255A,downstream_gene_variant,,ENST00000371352,;	A	ENST00000326624	Transcript	missense_variant	2175/5211	1947/2019	649/672	N/K	aaT/aaA		1		1	ZBTB33	HGNC	HGNC:16682	protein_coding	YES	CCDS14596.1	ENSP00000314153	Q86T24		UPI0000072F87	NM_006777.3	tolerated(0.08)		2/2		hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF301																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	120255362	120255362	T	A	1	0	0	0	0	1	0	0	0	18105	1461	51	4		4	ZBTB33	23	120255362	Missense_Mutation	SNP	T	C3N-00217_TP	1225	120255362	35785533	682	13120											
CUL4B	0	.	GRCh38	chrX	120538754	120538754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctttcttatagaaggcCtcaaaaacatccttgcctat	14	13	4	10	0	3	1	1	0	2	1	4	1	4	1	3	1	2	0	3	1	7	5	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1812G>T	p.Glu604Asp	p.E604D	ENST00000404115	15/22	213	194	19	292	292	0	strelka-varscan-mutect	CUL4B,missense_variant,p.Glu586Asp,ENST00000371322,NM_001079872.1;CUL4B,missense_variant,p.Glu604Asp,ENST00000404115,NM_003588.3;CUL4B,missense_variant,p.Glu591Asp,ENST00000336592,;CUL4B,downstream_gene_variant,,ENST00000371323,;CUL4B,upstream_gene_variant,,ENST00000497616,;	A	ENST00000404115	Transcript	missense_variant	2214/3264	1812/2742	604/913	E/D	gaG/gaT		1		-1	CUL4B	HGNC	HGNC:2555	protein_coding	YES	CCDS35379.1	ENSP00000384109	Q13620		UPI0000246E48	NM_003588.3	deleterious(0)		15/22		Gene3D:1.20.1310.10,Pfam_domain:PF00888,PROSITE_profiles:PS50069,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF66,SMART_domains:SM00182,Superfamily_domains:SSF75632																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	120538754	120538754	C	A	1	0	0	0	0	1	0	0	0	3868	680	24	2		2	CUL4B	23	120538754	Missense_Mutation	SNP	C	C3N-00217_TP	283392	120538754	35502141	683	13121											
GRIA3	0	.	GRCh38	chrX	123398780	123398780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctggagtcaaggaattGatattgagagagctctgaaa	13	10	12	6	0	2	4	1	3	1	1	2	7	2	6	1	2	2	1	1	2	4	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1057G>T	p.Asp353Tyr	p.D353Y	ENST00000622768	7/16	235	179	56	217	217	0	strelka-varscan-mutect	GRIA3,missense_variant,p.Asp353Tyr,ENST00000622768,NM_000828.4;GRIA3,missense_variant,p.Asp353Tyr,ENST00000620443,NM_007325.4;GRIA3,missense_variant,p.Asp353Tyr,ENST00000620581,;GRIA3,missense_variant,p.Asp353Tyr,ENST00000541091,;	T	ENST00000622768	Transcript	missense_variant	1350/5173	1057/2685	353/894	D/Y	Gat/Tat		1		1	GRIA3	HGNC	HGNC:4573	protein_coding	YES	CCDS14604.1	ENSP00000481554	P42263		UPI000013D503	NM_000828.4	deleterious(0.01)		7/16		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151,Superfamily_domains:SSF53822																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	43	123398780	123398780	G	T	1	0	0	0	0	1	0	0	0	6649	1290	45	2		2	GRIA3	23	123398780	Missense_Mutation	SNP	G	C3N-00217_TP	2860026	123398780	32642115	684	13122											
TEX13C	0	.	GRCh38	chrX	125321760	125321760	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcagaagccacagcctGaagaaagatccagtgatgcc	15	4	11	11	0	0	5	0	2	0	3	1	6	1	5	4	0	4	1	4	0	3	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.1641G>T	p.=	p.L547L	ENST00000632600	1/1	486	334	152	450	450	0	strelka-varscan-mutect	TEX13C,synonymous_variant,p.=,ENST00000632600,NM_001195272.1;	T	ENST00000632600	Transcript	synonymous_variant	1641/5095	1641/2982	547/993	L	ctG/ctT		1		1	TEX13C	HGNC	HGNC:52277	protein_coding	YES		ENSP00000488022	A0A0J9YWL9		UPI000016014C	NM_001195272.1			1/1																			LOW	1	SNV				1										PASS		.	.												T	2	4	43	125321760	125321760	G	T	1	0	0	0	0	0	0	0	1	16199	1277	45	2		2	TEX13C	23	125321760	Silent	SNP	G	C3N-00217_TP	1922980	125321760	30719135	685	13123											
DCAF12L2	0	.	GRCh38	chrX	126165656	126165656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccaggtccagctggCgctccgtcagcagctcgggc	4	6	16	15	3	1	0	1	0	0	0	4	0	3	0	3	4	4	4	3	4	0	0			C3N-00217_TP	C3N-00217_NB	C	C																c.269G>A	p.Arg90His	p.R90H	ENST00000360028	1/1	226	199	27	245	244	1	strelka-varscan-mutect	DCAF12L2,missense_variant,p.Arg90His,ENST00000360028,NM_001013628.2;	T	ENST00000360028	Transcript	missense_variant	442/2599	269/1392	90/463	R/H	cGc/cAc	COSM5123605,COSM5123606	1		-1	DCAF12L2	HGNC	HGNC:32950	protein_coding	YES	CCDS43991.1	ENSP00000353128	Q5VW00		UPI0000197594	NM_001013628.2	tolerated(0.09)		1/1		hmmpanther:PTHR19860:SF8,hmmpanther:PTHR19860											1,1						MODERATE	1	SNV			1,1	1										PASS		.	.												T	3	4	43	126165656	126165656	C	T	1	0	0	0	0	1	0	0	0	4066	768	27	1		1	DCAF12L2	23	126165656	Missense_Mutation	SNP	C	C3N-00217_TP	843896	126165656	29875239	686	13124											
IGSF1	0	.	GRCh38	chrX	131274720	131274720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacgttgttgatgacaaaGtctccatcctctgaaaactg	11	13	7	10	1	3	3	0	3	3	0	5	3	4	3	2	0	2	2	2	0	4	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3645C>A	p.Asp1215Glu	p.D1215E	ENST00000370903	18/20	320	212	108	355	353	2	strelka-varscan-mutect	IGSF1,missense_variant,p.Asp1201Glu,ENST00000370904,;IGSF1,missense_variant,p.Asp1215Glu,ENST00000370903,NM_001170961.1;IGSF1,missense_variant,p.Asp1201Glu,ENST00000370910,NM_001170962.1;IGSF1,missense_variant,p.Asp1210Glu,ENST00000361420,NM_001555.4;IGSF1,downstream_gene_variant,,ENST00000467244,;	T	ENST00000370903	Transcript	missense_variant	3928/4594	3645/4026	1215/1341	D/E	gaC/gaA		1		-1	IGSF1	HGNC	HGNC:5948	protein_coding	YES	CCDS55491.1	ENSP00000359940	Q8N6C5		UPI0000E0C769	NM_001170961.1	tolerated(0.18)		18/20		Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	131274720	131274720	G	T	1	0	0	0	0	1	0	0	0	7503	1020	36	2		2	IGSF1	23	131274720	Missense_Mutation	SNP	G	C3N-00217_TP	5109064	131274720	24766175	687	13125											
TFDP3	0	.	GRCh38	chrX	133217923	133217923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccttcatggaaagacGgcacaggcccatgccattct	11	7	9	14	1	2	2	1	0	1	2	2	3	2	3	4	3	1	1	4	3	1	2	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.337C>A	p.Arg113Ser	p.R113S	ENST00000310125	1/1	293	199	94	316	316	0	strelka-varscan-mutect	TFDP3,missense_variant,p.Arg113Ser,ENST00000310125,NM_016521.2;	T	ENST00000310125	Transcript	missense_variant	426/1680	337/1218	113/405	R/S	Cgt/Agt		1		-1	TFDP3	HGNC	HGNC:24603	protein_coding	YES	CCDS14636.2	ENSP00000385461	Q5H9I0		UPI0000212570	NM_016521.2	deleterious(0)		1/1		hmmpanther:PTHR12548:SF13,hmmpanther:PTHR12548,PIRSF_domain:PIRSF009404,Gene3D:1.10.10.10,Pfam_domain:PF02319,SMART_domains:SM01372,Superfamily_domains:SSF46785																	MODERATE	1	SNV				1										PASS		rs1302825657	.												T	3	4	43	133217923	133217923	G	T	1	0	0	0	0	1	0	0	0	16232	1116	39	1		1	TFDP3	23	133217923	Missense_Mutation	SNP	G	C3N-00217_TP	1943203	133217923	22822972	688	13126											
FAM127B	0	.	GRCh38	chrX	135052047	135052047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcgggttcctccagcgaCgcgccgcgggccggaggggc	5	4	18	14	7	0	0	0	0	0	0	3	3	2	1	4	5	1	1	4	5	1	1			C3N-00217_TP	C3N-00217_NB	C	C																c.62G>A	p.Arg21His	p.R21H	ENST00000370775	1/1	120	95	25	91	91	0	strelka-varscan-mutect	FAM127B,missense_variant,p.Arg21His,ENST00000370775,NM_001078172.1;FAM127B,non_coding_transcript_exon_variant,,ENST00000520964,;FAM127B,non_coding_transcript_exon_variant,,ENST00000518153,;FAM127B,non_coding_transcript_exon_variant,,ENST00000522309,;	T	ENST00000370775	Transcript	missense_variant	129/1244	62/342	21/113	R/H	cGt/cAt	COSM456784	1		-1	FAM127B	HGNC	HGNC:24514	protein_coding	YES	CCDS43998.1	ENSP00000375267	Q9BWD3		UPI0000140B18	NM_001078172.1	deleterious(0.02)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR15503:SF6,hmmpanther:PTHR15503,Pfam_domain:PF16297											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	43	135052047	135052047	C	T	1	0	0	0	0	1	0	0	0	5284	536	19	1		1	FAM127B	23	135052047	Missense_Mutation	SNP	C	C3N-00217_TP	1834124	135052047	20988848	689	13127											
ZNF449	0	.	GRCh38	chrX	135360904	135360904	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgcatactgaagagagacCttttaaatgtaattattgtg	15	13	8	5	1	0	3	0	1	0	2	0	4	0	3	1	0	2	2	1	0	7	6	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1385C>A	p.Pro462His	p.P462H	ENST00000339249	5/5	138	123	15	184	184	0	strelka-varscan-mutect	ZNF449,missense_variant,p.Pro462His,ENST00000339249,NM_152695.5;	A	ENST00000339249	Transcript	missense_variant	1525/3773	1385/1557	462/518	P/H	cCt/cAt		1		1	ZNF449	HGNC	HGNC:21039	protein_coding	YES	CCDS14649.1	ENSP00000339585	Q6P9G9		UPI000013F1DE	NM_152695.5	deleterious(0.02)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR23226:SF4,hmmpanther:PTHR23226,Gene3D:3.30.160.60,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	43	135360904	135360904	C	A	1	0	0	0	0	1	0	0	0	18491	681	24	2		2	ZNF449	23	135360904	Missense_Mutation	SNP	C	C3N-00217_TP	308857	135360904	20679991	690	13128											
ADGRG4	0	.	GRCh38	chrX	136359438	136359438	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attagtaaactgtgaacacgTtgcagtgaaaaaactaggta	17	10	9	5	1	0	2	0	2	0	0	0	2	0	2	0	1	4	4	0	1	9	5	rs371045658		C3N-00217_TP	C3N-00217_NB	T	T																c.7127T>A	p.Val2376Asp	p.V2376D	ENST00000394143	11/26	78	41	37	106	106	0	strelka-varscan-mutect	ADGRG4,missense_variant,p.Val2376Asp,ENST00000394143,NM_153834.3;ADGRG4,missense_variant,p.Val2376Asp,ENST00000370652,;ADGRG4,missense_variant,p.Val2171Asp,ENST00000394141,;	A	ENST00000394143	Transcript	missense_variant	7418/9931	7127/9243	2376/3080	V/D	gTt/gAt	rs371045658	1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3	deleterious(0)		11/26																			MODERATE	1	SNV	1			1										PASS		rs371045658	.												A	3	1	43	136359438	136359438	T	A	1	0	0	0	0	1	0	0	0	371	1725	60	4		4	ADGRG4	23	136359438	Missense_Mutation	SNP	T	C3N-00217_TP	998534	136359438	19681457	691	13129											
MAGEC3	0	.	GRCh38	chrX	141897274	141897274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaagcccatgagttcataGagctaatttttggcattgcc	11	12	10	8	0	1	2	1	1	0	1	1	3	1	3	2	2	3	3	2	2	3	6			C3N-00217_TP	C3N-00217_NB	G	G																c.1516G>C	p.Glu506Gln	p.E506Q	ENST00000298296	7/8	176	153	23	136	136	0	strelka-varscan-mutect	MAGEC3,missense_variant,p.Glu506Gln,ENST00000298296,NM_138702.1;MAGEC3,missense_variant,p.Glu208Gln,ENST00000544766,NM_177456.2;MAGEC3,missense_variant,p.Glu208Gln,ENST00000409007,;MAGEC3,missense_variant,p.Glu128Gln,ENST00000443323,;MAGEC3,downstream_gene_variant,,ENST00000483584,;	C	ENST00000298296	Transcript	missense_variant	1516/1932	1516/1932	506/643	E/Q	Gag/Cag	COSM1466093,COSM1466094	1		1	MAGEC3	HGNC	HGNC:23798	protein_coding	YES	CCDS14676.1	ENSP00000298296	Q8TD91		UPI000006E09B	NM_138702.1	tolerated(0.23)		7/8		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF86,SMART_domains:SM01373											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	43	141897274	141897274	G	C	1	0	0	0	0	1	0	0	0	9100	943	33	4		4	MAGEC3	23	141897274	Missense_Mutation	SNP	G	C3N-00217_TP	5537836	141897274	14143621	692	13130											
HSFX2	0	.	GRCh38	chrX	149594501	149594501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggccagaggttggaaaGcgatttcttctgtcagcagc	8	10	12	11	2	3	1	1	0	2	1	4	3	3	2	2	3	3	2	2	3	1	3	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.200C>A	p.Ala67Asp	p.A67D	ENST00000598963	1/2	76	55	21	57	57	0	strelka-varscan-mutect	HSFX2,missense_variant,p.Ala67Asp,ENST00000598963,NM_001164415.2;TMEM185A,downstream_gene_variant,,ENST00000600449,NM_032508.3;TMEM185A,downstream_gene_variant,,ENST00000611119,NM_001174092.2;TMEM185A,downstream_gene_variant,,ENST00000613273,;TMEM185A,downstream_gene_variant,,ENST00000502858,;TMEM185A,downstream_gene_variant,,ENST00000616857,;TMEM185A,downstream_gene_variant,,ENST00000612022,;	T	ENST00000598963	Transcript	missense_variant	216/1365	200/1272	67/423	A/D	gCt/gAt		1		-1	HSFX2	HGNC	HGNC:32701	protein_coding	YES	CCDS48179.1	ENSP00000469223	Q9UBD0	A0A140VK21	UPI000007033B	NM_001164415.2	deleterious(0)		1/2		hmmpanther:PTHR10015,hmmpanther:PTHR10015:SF163																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	43	149594501	149594501	G	T	1	0	0	0	0	1	0	0	0	7295	971	34	2		2	HSFX2	23	149594501	Missense_Mutation	SNP	G	C3N-00217_TP	7697227	149594501	6446394	693	13131											
PRRG3	0	.	GRCh38	chrX	151699974	151699974	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatctccccattccaggcCtcagtagggctctctcctca	6	10	8	17	0	4	0	2	0	2	0	8	0	6	0	5	3	0	3	5	3	1	2			C3N-00217_TP	C3N-00217_NB	C	C																c.10C>G	p.Leu4Val	p.L4V	ENST00000370354	3/4	37	21	16	26	26	0	strelka-varscan-mutect	PRRG3,missense_variant,p.Leu4Val,ENST00000370354,;PRRG3,intron_variant,,ENST00000370353,;PRRG3,intron_variant,,ENST00000538575,NM_024082.3;PRRG3,intron_variant,,ENST00000448726,;PRRG3,upstream_gene_variant,,ENST00000448324,;	G	ENST00000370354	Transcript	missense_variant,splice_region_variant	107/650	10/309	4/102	L/V	Ctc/Gtc	COSM3964883	1		1	PRRG3	HGNC	HGNC:30798	protein_coding			ENSP00000359379		A6NDZ7	UPI000059DB9F		deleterious_low_confidence(0.03)		3/4													1						MODERATE		SNV	3		1	1										PASS		.	.												G	3	3	43	151699974	151699974	C	G	1	0	0	0	0	1	0	0	0	12753	695	24	4		4	PRRG3	23	151699974	Missense_Mutation	SNP	C	C3N-00217_TP	2105473	151699974	4340921	694	13132											
GABRA3	0	.	GRCh38	chrX	152255884	152255884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgtggaagaaggtgtccgGtgtccagatcttactagcca	10	11	12	8	1	1	2	0	0	1	2	3	3	3	3	3	3	2	0	3	3	4	3	rs79829085		C3N-00217_TP	C3N-00217_NB	G	G																c.445C>A	p.Pro149Thr	p.P149T	ENST00000370314	5/10	545	315	230	449	449	0	strelka-varscan-mutect	GABRA3,missense_variant,p.Pro149Thr,ENST00000370314,NM_000808.3;GABRA3,missense_variant,p.Pro149Thr,ENST00000535043,;GABRA3,non_coding_transcript_exon_variant,,ENST00000417858,;	T	ENST00000370314	Transcript	missense_variant	684/3712	445/1479	149/492	P/T	Ccg/Acg	rs79829085	1		-1	GABRA3	HGNC	HGNC:4077	protein_coding	YES	CCDS14706.1	ENSP00000359337	P34903		UPI000002D730	NM_000808.3	deleterious(0)		5/10		hmmpanther:PTHR18945:SF216,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR00252																	MODERATE	1	SNV	1			1										PASS		rs79829085	.												T	3	4	43	152255884	152255884	G	T	1	0	0	0	0	1	0	0	0	6033	1261	44	2		2	GABRA3	23	152255884	Missense_Mutation	SNP	G	C3N-00217_TP	555910	152255884	3785011	695	13133											
GABRQ	0	.	GRCh38	chrX	152652682	152652682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacctcggaaagcctcagcCcactcacttctctctcaggc	8	8	6	19	1	4	0	3	0	2	0	7	1	4	1	4	2	2	0	4	2	1	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1300C>A	p.Pro434Thr	p.P434T	ENST00000598523	9/9	356	312	44	285	283	2	strelka-varscan-mutect	GABRQ,missense_variant,p.Pro434Thr,ENST00000598523,NM_018558.3;	A	ENST00000598523	Transcript	missense_variant	1320/6172	1300/1899	434/632	P/T	Cca/Aca		1		1	GABRQ	HGNC	HGNC:14454	protein_coding	YES	CCDS14707.1	ENSP00000469332	Q9UN88		UPI000013DAC0	NM_018558.3	tolerated(0.86)		9/9		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1376739920	.												A	3	1	43	152652682	152652682	C	A	1	0	0	0	0	1	0	0	0	6046	623	22	2		2	GABRQ	23	152652682	Missense_Mutation	SNP	C	C3N-00217_TP	396798	152652682	3388213	696	13134											
ATP2B3	0	.	GRCh38	chrX	153565046	153565046	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagatcgaccatgccgagcgGgagctccgcaggggccagat	9	4	16	12	4	0	2	0	0	0	2	2	6	1	3	4	3	3	2	4	3	0	0	novel		C3N-00217_TP	C3N-00217_NB	G	G																c.3285G>T	p.=	p.R1095R	ENST00000263519	19/20	269	214	55	173	172	1	strelka-varscan-mutect	ATP2B3,synonymous_variant,p.=,ENST00000370186,;ATP2B3,synonymous_variant,p.=,ENST00000263519,NM_001001344.2;ATP2B3,synonymous_variant,p.=,ENST00000349466,;ATP2B3,synonymous_variant,p.=,ENST00000359149,NM_021949.3;ATP2B3,synonymous_variant,p.=,ENST00000393842,;ATP2B3,downstream_gene_variant,,ENST00000460549,;ATP2B3,upstream_gene_variant,,ENST00000496610,;	T	ENST00000263519	Transcript	synonymous_variant	3411/6420	3285/3663	1095/1220	R	cgG/cgT		1		1	ATP2B3	HGNC	HGNC:816	protein_coding	YES	CCDS35440.1	ENSP00000263519	Q16720		UPI00001AE881	NM_001001344.2			19/20		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF284																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	43	153565046	153565046	G	T	1	0	0	0	0	0	0	0	1	1294	1219	43	2		2	ATP2B3	23	153565046	Silent	SNP	G	C3N-00217_TP	912364	153565046	2475849	697	13135											
L1CAM	0	.	GRCh38	chrX	153870081	153870081	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acggtgacatagtacgcatgCcgggcactgcccagtgagtt	9	8	13	11	3	0	2	0	2	0	0	0	2	0	2	2	2	3	4	2	2	2	3	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.966G>T	p.=	p.R322R	ENST00000370060	9/29	232	177	55	157	157	0	strelka-varscan-mutect	L1CAM,synonymous_variant,p.=,ENST00000370060,NM_001278116.1,NM_000425.4;L1CAM,synonymous_variant,p.=,ENST00000361981,NM_001143963.2;L1CAM,synonymous_variant,p.=,ENST00000370055,;L1CAM,synonymous_variant,p.=,ENST00000361699,NM_024003.3;L1CAM,downstream_gene_variant,,ENST00000439496,;L1CAM,downstream_gene_variant,,ENST00000458029,;L1CAM,downstream_gene_variant,,ENST00000407935,;L1CAM,upstream_gene_variant,,ENST00000455590,;L1CAM,downstream_gene_variant,,ENST00000420165,;L1CAM,downstream_gene_variant,,ENST00000464967,;L1CAM,upstream_gene_variant,,ENST00000474853,;L1CAM,upstream_gene_variant,,ENST00000496122,;L1CAM,downstream_gene_variant,,ENST00000460553,;L1CAM,upstream_gene_variant,,ENST00000484652,;	A	ENST00000370060	Transcript	synonymous_variant	1156/5113	966/3774	322/1257	R	cgG/cgT		1		-1	L1CAM	HGNC	HGNC:6470	protein_coding	YES	CCDS14733.1	ENSP00000359077	P32004		UPI0000126E89	NM_001278116.1,NM_000425.4			9/29		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF593,hmmpanther:PTHR10489,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	43	153870081	153870081	C	A	1	0	0	0	0	0	0	0	1	8489	726	26	2		2	L1CAM	23	153870081	Silent	SNP	C	C3N-00217_TP	305035	153870081	2170814	698	13136											
AVPR2	0	.	GRCh38	chrX	153906700	153906700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctgcaccaccgccagctCctccctggccaaggacactt	7	7	8	19	1	0	0	0	0	0	0	3	1	3	1	7	2	2	2	7	2	1	1	novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1088C>A	p.Ser363Tyr	p.S363Y	ENST00000358927	4/4	201	105	96	133	132	1	strelka-varscan-mutect	AVPR2,missense_variant,p.Ser363Tyr,ENST00000358927,;AVPR2,missense_variant,p.Ser363Tyr,ENST00000337474,NM_000054.4;AVPR2,missense_variant,p.Pro334Thr,ENST00000430697,;AVPR2,3_prime_UTR_variant,,ENST00000370049,NM_001146151.1;ARHGAP4,downstream_gene_variant,,ENST00000370028,NM_001164741.1;ARHGAP4,downstream_gene_variant,,ENST00000350060,NM_001666.4;ARHGAP4,downstream_gene_variant,,ENST00000370016,;ARHGAP4,downstream_gene_variant,,ENST00000393721,;ARHGAP4,downstream_gene_variant,,ENST00000442172,;ARHGAP4,downstream_gene_variant,,ENST00000454164,;ARHGAP4,downstream_gene_variant,,ENST00000467421,;AVPR2,3_prime_UTR_variant,,ENST00000434679,;L1CAM,intron_variant,,ENST00000464967,;ARHGAP4,downstream_gene_variant,,ENST00000404127,;ARHGAP4,downstream_gene_variant,,ENST00000470209,;ARHGAP4,downstream_gene_variant,,ENST00000420383,;ARHGAP4,downstream_gene_variant,,ENST00000494302,;ARHGAP4,downstream_gene_variant,,ENST00000494397,;ARHGAP4,downstream_gene_variant,,ENST00000466928,;ARHGAP4,downstream_gene_variant,,ENST00000461739,;	A	ENST00000358927	Transcript	missense_variant	1297/1763	1088/1116	363/371	S/Y	tCc/tAc		1		1	AVPR2	HGNC	HGNC:897	protein_coding	YES	CCDS14735.1	ENSP00000351805	P30518		UPI000005043B		deleterious(0.04)		4/4		hmmpanther:PTHR24241:SF20,hmmpanther:PTHR24241,Prints_domain:PR00898																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	43	153906700	153906700	C	A	1	0	0	0	0	1	0	0	0	1389	855	30	2		2	AVPR2	23	153906700	Missense_Mutation	SNP	C	C3N-00217_TP	36619	153906700	2134195	699	13137											
FLNA	0	.	GRCh38	chrX	154364703	154364703	+	Frame_Shift_Del	DEL	C	C	-																															tcgatcttagcctgcgatggCccttccaccgagaagcctga																								novel		C3N-00217_TP	C3N-00217_NB	C	C																c.1845delG	p.Pro616HisfsTer60	p.P616Hfs*60	ENST00000369850	13/48	408	295	113	272	272	0	sindel-varindel-pindel	FLNA,frameshift_variant,p.Pro616HisfsTer60,ENST00000422373,NM_001456.3;FLNA,frameshift_variant,p.Pro616HisfsTer60,ENST00000369850,NM_001110556.1;FLNA,frameshift_variant,p.Pro616HisfsTer60,ENST00000360319,;FLNA,frameshift_variant,p.Pro589HisfsTer60,ENST00000369856,;FLNA,frameshift_variant,p.Pro616HisfsTer60,ENST00000344736,;FLNA,frameshift_variant,p.Pro589HisfsTer60,ENST00000610817,;FLNA,frameshift_variant,p.Ala601ProfsTer2033,ENST00000420627,;FLNA,non_coding_transcript_exon_variant,,ENST00000465144,;	-	ENST00000369850	Transcript	frameshift_variant	2082/8382	1845/7944	615/2647	G/X	ggG/gg		1		-1	FLNA	HGNC	HGNC:3754	protein_coding	YES	CCDS48194.1	ENSP00000358866	P21333		UPI000013C596	NM_001110556.1			13/48		PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF173,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	43	154364703	154364703	C	-	1	0	1	0	1	0	0	0	0	5789	726	26	0		0	FLNA	23	154364703	Frame_Shift_Del	DEL	C	C3N-00217_TP	458003	154364703	1676192	700	13138											
FAM50A	0	.	GRCh38	chrX	154449897	154449897	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccagcatcacagcttctaCgacttcatcgtcaccaaggc	10	9	6	16	2	4	0	3	0	1	0	6	1	5	0	2	1	3	2	2	1	2	3	rs367764750		C3N-00217_TP	C3N-00217_NB	C	C																c.795C>A	p.Tyr265Ter	p.Y265*	ENST00000393600	10/13	367	285	82	294	293	1	strelka-varscan-mutect	FAM50A,stop_gained,p.Tyr265Ter,ENST00000393600,NM_004699.3;FAM50A,stop_gained,p.Tyr225Ter,ENST00000158526,;MIR6858,upstream_gene_variant,,ENST00000620733,;FAM50A,non_coding_transcript_exon_variant,,ENST00000464419,;FAM50A,non_coding_transcript_exon_variant,,ENST00000494278,;FAM50A,downstream_gene_variant,,ENST00000481619,;FAM50A,downstream_gene_variant,,ENST00000478509,;FAM50A,downstream_gene_variant,,ENST00000490480,;	A	ENST00000393600	Transcript	stop_gained	905/1352	795/1020	265/339	Y/*	taC/taA	rs367764750	1		1	FAM50A	HGNC	HGNC:18786	protein_coding	YES	CCDS14751.1	ENSP00000377225	Q14320		UPI0000138FCD	NM_004699.3			10/13		hmmpanther:PTHR12722,hmmpanther:PTHR12722:SF2,Pfam_domain:PF04921																	HIGH	1	SNV	1			1										PASS		rs367764750	.												A	4	1	43	154449897	154449897	C	A	1	0	0	0	0	0	1	0	0	5453	547	19	1		1	FAM50A	23	154449897	Nonsense_Mutation	SNP	C	C3N-00217_TP	85194	154449897	1590998	701	13139											
PLXNA3	0	.	GRCh38	chrX	154461552	154461552	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacatcaatgcccacatcCggcgccgcatccagtcctgc	9	6	8	18	3	1	0	1	0	0	0	4	0	4	0	5	1	3	2	5	1	2	0	rs150493678		C3N-00217_TP	C3N-00217_NB	C	C																c.1048C>A	p.=	p.R350R	ENST00000369682	3/33	194	153	41	122	122	0	strelka-varscan-mutect	PLXNA3,synonymous_variant,p.=,ENST00000369682,NM_017514.4;PLXNA3,downstream_gene_variant,,ENST00000495040,;PLXNA3,upstream_gene_variant,,ENST00000467463,;PLXNA3,upstream_gene_variant,,ENST00000478236,;PLXNA3,upstream_gene_variant,,ENST00000482598,;	A	ENST00000369682	Transcript	synonymous_variant	1223/10885	1048/5616	350/1871	R	Cgg/Agg	rs150493678	1		1	PLXNA3	HGNC	HGNC:9101	protein_coding	YES	CCDS14752.1	ENSP00000358696	P51805		UPI0002AB801F	NM_017514.4			3/33		PROSITE_profiles:PS51004,hmmpanther:PTHR22625:SF32,hmmpanther:PTHR22625,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912																	LOW	1	SNV	1			1										PASS		rs150493678	.												A	2	1	43	154461552	154461552	C	A	1	0	0	0	0	0	0	0	1	12227	643	23	1		1	PLXNA3	23	154461552	Silent	SNP	C	C3N-00217_TP	11655	154461552	1579343	702	13140											
DPM3	0	.	GRCh38	chr1	155140089	155140089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtgcccagggcatagCagccggcggacaccagcaag	11	2	13	15	2	0	0	0	0	0	0	0	1	0	1	4	3	4	3	4	3	2	1	novel		C3N-00223_TP	C3N-00223_NB	C	C																c.242G>T	p.Cys81Phe	p.C81F	ENST00000368399	1/1	237	203	34	181	179	2	strelka-varscan-mutect	DPM3,missense_variant,p.Cys81Phe,ENST00000368399,NM_018973.3;DPM3,missense_variant,p.Cys51Phe,ENST00000341298,;DPM3,missense_variant,p.Cys51Phe,ENST00000368400,NM_153741.1;SLC50A1,downstream_gene_variant,,ENST00000368404,NM_018845.3,NM_001287587.1;SLC50A1,downstream_gene_variant,,ENST00000622581,NM_001287586.1;SLC50A1,downstream_gene_variant,,ENST00000368401,NM_001287588.1,NM_001122837.1;SLC50A1,downstream_gene_variant,,ENST00000303343,NM_001122839.1;SLC50A1,downstream_gene_variant,,ENST00000484157,NM_001287590.1;SLC50A1,downstream_gene_variant,,ENST00000368405,;SLC50A1,downstream_gene_variant,,ENST00000490770,;SLC50A1,downstream_gene_variant,,ENST00000488609,;SLC50A1,downstream_gene_variant,,ENST00000490276,;SLC50A1,downstream_gene_variant,,ENST00000475824,;SLC50A1,downstream_gene_variant,,ENST00000484027,;SLC50A1,downstream_gene_variant,,ENST00000465546,;SLC50A1,downstream_gene_variant,,ENST00000479579,;SLC50A1,downstream_gene_variant,,ENST00000506037,;	A	ENST00000368399	Transcript	missense_variant	319/517	242/369	81/122	C/F	tGc/tTc		1		-1	DPM3	HGNC	HGNC:3007	protein_coding	YES	CCDS1094.1	ENSP00000357384	Q9P2X0	A0A140VJI4	UPI000015FDD9	NM_018973.3	tolerated(0.06)		1/1		Pfam_domain:PF08285,hmmpanther:PTHR16433,hmmpanther:PTHR16433:SF0,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												A	3	1	44	155140089	155140089	C	A	1	0	0	0	0	1	0	0	0	4541	710	25	2		2	DPM3	1	155140089	Missense_Mutation	SNP	C	C3N-00223_TP		155140089	93816333	1	13141											
ASPM	0	.	GRCh38	chr1	197133361	197133361	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttacccacatctttcCataggtgtctatcttttcga	7	18	4	12	1	5	0	0	0	5	0	7	1	6	0	2	1	1	0	2	1	3	7	novel		C3N-00223_TP	C3N-00223_NB	C	C																c.2408G>A	p.Trp803Ter	p.W803*	ENST00000367409	6/28	185	170	15	80	80	0	strelka-varscan-mutect	ASPM,stop_gained,p.Trp803Ter,ENST00000367409,NM_018136.4;ASPM,stop_gained,p.Trp803Ter,ENST00000294732,NM_001206846.1;ASPM,stop_gained,p.Trp53Ter,ENST00000367408,;ASPM,intron_variant,,ENST00000612785,;	T	ENST00000367409	Transcript	stop_gained	2665/10887	2408/10434	803/3477	W/*	tGg/tAg		1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4			6/28		Superfamily_domains:SSF47576																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	44	197133361	197133361	C	T	1	0	0	0	0	0	1	0	0	1203	595	21	3		3	ASPM	1	197133361	Nonsense_Mutation	SNP	C	C3N-00223_TP	41993272	197133361	51823061	2	13142											
UGT1A1	0	.	GRCh38	chr2	233772427	233772427	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagtaccattccttggaCgtgattggtttcctcttggc	6	15	9	11	1	1	1	0	1	1	0	3	2	3	2	4	3	2	2	4	3	2	7	rs114123636		C3N-00223_TP	C3N-00223_NB	C	C																c.1467C>T	p.=	p.D489D	ENST00000305139	5/5	355	305	50	340	340	0	strelka-varscan-mutect	UGT1A6,synonymous_variant,p.=,ENST00000305139,NM_001072.3;UGT1A9,synonymous_variant,p.=,ENST00000354728,NM_021027.2;UGT1A10,synonymous_variant,p.=,ENST00000344644,NM_019075.2;UGT1A8,synonymous_variant,p.=,ENST00000373450,NM_019076.4;UGT1A4,synonymous_variant,p.=,ENST00000373409,NM_007120.2;UGT1A1,synonymous_variant,p.=,ENST00000305208,NM_000463.2;UGT1A3,synonymous_variant,p.=,ENST00000482026,NM_019093.2;UGT1A5,synonymous_variant,p.=,ENST00000373414,NM_019078.1;UGT1A7,synonymous_variant,p.=,ENST00000373426,NM_019077.2;UGT1A6,synonymous_variant,p.=,ENST00000373424,NM_205862.1;MROH2A,upstream_gene_variant,,ENST00000610772,NM_001287395.1;UGT1A1,downstream_gene_variant,,ENST00000360418,;UGT1A10,downstream_gene_variant,,ENST00000373445,;UGT1A6,downstream_gene_variant,,ENST00000406651,;MROH2A,upstream_gene_variant,,ENST00000430892,;MROH2A,upstream_gene_variant,,ENST00000428446,;MROH2A,upstream_gene_variant,,ENST00000454283,;UGT1A4,3_prime_UTR_variant,,ENST00000450233,;UGT1A6,downstream_gene_variant,,ENST00000446481,;	T	ENST00000305139	Transcript	synonymous_variant	1606/2479	1467/1599	489/532	D	gaC/gaT	rs114123636,COSM3050509,COSM3050510,COSM3050511,COSM3050512,COSM3050513,COSM3050514,COSM3050515,COSM3050516,COSM3050517	1		1	UGT1A6	HGNC	HGNC:12538	protein_coding	YES	CCDS2507.1	ENSP00000303174	P19224	Q5DSZ8	UPI000007021F	NM_001072.3			5/5		hmmpanther:PTHR11926:SF363,hmmpanther:PTHR11926,Pfam_domain:PF00201											0,1,1,1,1,1,1,1,1,1						LOW		SNV	1		0,1,1,1,1,1,1,1,1,1	1										PASS		rs114123636	.												T	2	4	44	233772427	233772427	C	T	1	0	0	0	0	0	0	0	1	17469	535	19	1		1	UGT1A1	2	233772427	Silent	SNP	C	C3N-00223_TP		233772427	8421102	3	13143											
MUC4	0	.	GRCh38	chr3	195779684	195779684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacaggaagagaggtggCgtgacctgtggatactgagg	10	7	19	5	1	0	4	0	3	0	1	0	7	0	6	1	6	1	0	1	6	2	1	rs368695884		C3N-00223_TP	C3N-00223_NB	C	C																c.11896G>A	p.Ala3966Thr	p.A3966T	ENST00000463781	2/25	72	66	6	106	106	0	varscan-mutect	MUC4,missense_variant,p.Ala3966Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala3966Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala3966Thr,ENST00000478156,;MUC4,missense_variant,p.Ala3966Thr,ENST00000466475,;MUC4,missense_variant,p.Ala3966Thr,ENST00000477756,;MUC4,missense_variant,p.Ala3966Thr,ENST00000477086,;MUC4,missense_variant,p.Ala3966Thr,ENST00000480843,;MUC4,missense_variant,p.Ala3966Thr,ENST00000462323,;MUC4,missense_variant,p.Ala3966Thr,ENST00000470451,;MUC4,missense_variant,p.Ala3966Thr,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	T	ENST00000463781	Transcript	missense_variant	12356/17110	11896/16239	3966/5412	A/T	Gcc/Acc	rs368695884,COSM479899	1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	tolerated_low_confidence(0.16)		2/25													0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs368695884	.												T	3	4	44	195779684	195779684	C	T	1	0	0	0	0	1	0	0	0	9977	768	27	1		1	MUC4	3	195779684	Missense_Mutation	SNP	C	C3N-00223_TP		195779684	2515875	4	13144											
MUC4	0	.	GRCh38	chr3	195791248	195791248	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggaggagctgtctccAtcacattgtgtacacttggg	8	12	11	10	0	3	0	1	0	2	0	4	2	3	2	1	3	2	2	1	3	1	3	rs201789760		C3N-00223_TP	C3N-00223_NB	A	A																c.332T>A	p.Met111Lys	p.M111K	ENST00000463781	2/25	148	136	12	149	147	2	varscan-mutect	MUC4,missense_variant,p.Met111Lys,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Met111Lys,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Met111Lys,ENST00000478156,;MUC4,missense_variant,p.Met111Lys,ENST00000466475,;MUC4,missense_variant,p.Met111Lys,ENST00000477756,;MUC4,missense_variant,p.Met111Lys,ENST00000477086,;MUC4,missense_variant,p.Met111Lys,ENST00000480843,;MUC4,missense_variant,p.Met111Lys,ENST00000462323,;MUC4,missense_variant,p.Met111Lys,ENST00000470451,;MUC4,missense_variant,p.Met111Lys,ENST00000479406,;	T	ENST00000463781	Transcript	missense_variant	792/17110	332/16239	111/5412	M/K	aTg/aAg	rs201789760	1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	tolerated_low_confidence(0.14)		2/25																			MODERATE	1	SNV	5			1										PASS		rs201789760	.												T	3	4	44	195791248	195791248	A	T	1	0	0	0	0	1	0	0	0	9977	217	8	4		4	MUC4	3	195791248	Missense_Mutation	SNP	A	C3N-00223_TP	11564	195791248	2504311	5	13145											
UVSSA	0	.	GRCh38	chr4	1383915	1383916	+	Frame_Shift_Del	DEL	CG	CG	-																															aggctgataccgcccgcgctCgcattgggagaaaagtcttc																								novel		C3N-00223_TP	C3N-00223_NB	CG	CG																c.2012_2013delGC	p.Arg671HisfsTer34	p.R671Hfs*34	ENST00000389851	13/14	102	77	25	106	106	0	sindel-varindel-pindel	UVSSA,frameshift_variant,p.Arg671HisfsTer34,ENST00000389851,NM_001317935.1,NM_020894.2;UVSSA,frameshift_variant,p.Arg671HisfsTer34,ENST00000511216,;UVSSA,frameshift_variant,p.Arg671HisfsTer34,ENST00000507531,;UVSSA,frameshift_variant,p.Arg222HisfsTer34,ENST00000512728,;UVSSA,frameshift_variant,p.Arg222HisfsTer34,ENST00000511563,;UVSSA,upstream_gene_variant,,ENST00000507422,;UVSSA,3_prime_UTR_variant,,ENST00000503548,;	-	ENST00000389851	Transcript	frameshift_variant	2458-2459/4560	2011-2012/2130	671/709	R/X	CGc/c		1		1	UVSSA	HGNC	HGNC:29304	protein_coding	YES	CCDS33938.1	ENSP00000374501	Q2YD98		UPI00001C1E0C	NM_001317935.1,NM_020894.2			13/14		hmmpanther:PTHR28670																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	44	1383915	1383915	CG	-	1	0	1	0	1	0	0	0	0	17653	884	31	0		0	UVSSA	4	1383915	Frame_Shift_Del	DEL	CG	C3N-00223_TP		1383915	188830640	6	13146											
LNPEP	0	.	GRCh38	chr5	97013733	97013733	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtacactatgcagatgaTgattgggaagcactaatcca	14	11	9	7	0	0	3	0	2	0	1	1	4	1	4	1	1	3	3	1	1	4	5	novel		C3N-00223_TP	C3N-00223_NB	T	T																c.2121T>C	p.=	p.D707D	ENST00000231368	12/18	148	131	17	123	123	0	strelka-varscan-mutect	LNPEP,synonymous_variant,p.=,ENST00000231368,NM_005575.2;LNPEP,synonymous_variant,p.=,ENST00000395770,NM_175920.3;	C	ENST00000231368	Transcript	synonymous_variant	2813/12752	2121/3078	707/1025	D	gaT/gaC		1		1	LNPEP	HGNC	HGNC:6656	protein_coding	YES	CCDS4087.1	ENSP00000231368	Q9UIQ6		UPI000013C94B	NM_005575.2			12/18		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF42,Pfam_domain:PF11838																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	44	97013733	97013733	T	C	1	0	0	0	0	0	0	0	1	8791	1461	51	5		5	LNPEP	5	97013733	Silent	SNP	T	C3N-00223_TP		97013733	84524526	7	13147											
PCDHGA1	0	.	GRCh38	chr5	141332620	141332620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagtctcgtggtggccGtccaggaccacggccagccc	7	5	14	15	3	1	1	0	0	1	1	3	2	2	2	5	4	2	1	5	4	0	0	rs577475018		C3N-00223_TP	C3N-00223_NB	G	G																c.1936G>A	p.Val646Ile	p.V646I	ENST00000517417	1/4	305	248	57	351	350	1	strelka-varscan-mutect	PCDHGA1,missense_variant,p.Val646Ile,ENST00000517417,NM_018912.2;PCDHGA1,missense_variant,p.Val646Ile,ENST00000378105,NM_031993.1;AC005618.6,downstream_gene_variant,,ENST00000606901,;AC005618.6,downstream_gene_variant,,ENST00000606674,;	A	ENST00000517417	Transcript	missense_variant	1936/4604	1936/2796	646/931	V/I	Gtc/Atc	rs577475018,COSM4999586,COSM4999587	1		1	PCDHGA1	HGNC	HGNC:8696	protein_coding	YES	CCDS54922.1	ENSP00000431083	Q9Y5H4		UPI0000070596	NM_018912.2	deleterious_low_confidence(0.01)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF108,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs577475018	.												A	3	1	44	141332620	141332620	G	A	1	0	0	0	0	1	0	0	0	11637	1145	40	1		1	PCDHGA1	5	141332620	Missense_Mutation	SNP	G	C3N-00223_TP	44318887	141332620	40205639	8	13148											
MDN1	0	.	GRCh38	chr6	89787876	89787876	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggttgcaaaaaactgaaAtccaggtgccactttcagac	13	9	8	11	0	1	2	1	1	0	1	2	2	2	2	3	2	3	2	3	2	4	2	novel		C3N-00223_TP	C3N-00223_NB	A	A																c.1312T>G	p.Phe438Val	p.F438V	ENST00000369393	8/102	210	186	24	195	195	0	strelka-varscan-mutect	MDN1,missense_variant,p.Phe438Val,ENST00000369393,NM_014611.2;MDN1,missense_variant,p.Phe438Val,ENST00000629399,;MDN1,intron_variant,,ENST00000439638,;	C	ENST00000369393	Transcript	missense_variant	1428/18413	1312/16791	438/5596	F/V	Ttt/Gtt		1		-1	MDN1	HGNC	HGNC:18302	protein_coding	YES	CCDS5024.1	ENSP00000358400	Q9NU22		UPI000013C4B8	NM_014611.2	deleterious(0)		8/102		Gene3D:3.40.50.300,Pfam_domain:PF07728,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF64,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	44	89787876	89787876	A	C	1	0	0	0	0	1	0	0	0	9353	101	4	5		5	MDN1	6	89787876	Missense_Mutation	SNP	A	C3N-00223_TP		89787876	81018103	9	13149											
EGFR	0	.	GRCh38	chr7	55174776	55174776	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcccgtcgctatcaaggaaTtaagagaagcaacatctccg	13	9	8	11	3	2	1	1	0	1	1	5	3	3	2	2	1	2	2	2	1	6	3	rs397517095		C3N-00223_TP	C3N-00223_NB	T	T																c.2239T>G	p.Leu747Val	p.L747V	ENST00000275493	19/28	385	324	61	277	277	0	strelka-varscan-mutect	EGFR,missense_variant,p.Leu747Val,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu702Val,ENST00000454757,;EGFR,missense_variant,p.Leu702Val,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	G	ENST00000275493	Transcript	missense_variant	2416/9821	2239/3633	747/1210	L/V	Tta/Gta	rs397517095	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0.03)		19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										uncertain_significance							MODERATE	1	SNV	1		1	1										PASS		rs397517095	.												G	3	3	44	55174776	55174776	T	G	1	0	0	0	0	1	0	0	0	4803	1490	52	5		5	EGFR	7	55174776	Missense_Mutation	SNP	T	C3N-00223_TP		55174776	104171197	10	13150											
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcacagattttgggcTggccaaactgctgggtgcgg	9	9	14	9	1	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	2	2	rs121434568		C3N-00223_TP	C3N-00223_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	445	382	63	363	363	0	strelka-varscan-mutect	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		rs121434568	.												G	3	3	44	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3N-00223_TP	17046	55191822	104154151	11	13151											
THAP5	0	.	GRCh38	chr7	108564530	108564530	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatataaaagaattaactgaGggtttagaattttcagcagg	16	12	10	3	0	1	3	1	1	0	2	1	4	1	3	0	2	2	2	0	2	7	7	novel		C3N-00223_TP	C3N-00223_NB	G	G																c.849C>A	p.=	p.P283P	ENST00000415914	3/3	154	119	35	181	181	0	strelka-varscan-mutect	THAP5,synonymous_variant,p.=,ENST00000415914,NM_001130475.2;THAP5,synonymous_variant,p.=,ENST00000313516,NM_182529.3;THAP5,downstream_gene_variant,,ENST00000438865,;THAP5,non_coding_transcript_exon_variant,,ENST00000493722,;PNPLA8,intron_variant,,ENST00000489738,;THAP5,intron_variant,,ENST00000468884,;THAP5,downstream_gene_variant,,ENST00000412935,;THAP5,downstream_gene_variant,,ENST00000446771,;THAP5,downstream_gene_variant,,ENST00000484452,;	T	ENST00000415914	Transcript	synonymous_variant	1003/3306	849/1188	283/395	P	ccC/ccA		1		-1	THAP5	HGNC	HGNC:23188	protein_coding	YES	CCDS47687.1	ENSP00000400500	Q7Z6K1		UPI00003E4106	NM_001130475.2			3/3		hmmpanther:PTHR23080,hmmpanther:PTHR23080:SF77																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	44	108564530	108564530	G	T	1	0	0	0	0	0	0	0	1	16280	987	35	2		2	THAP5	7	108564530	Silent	SNP	G	C3N-00223_TP	53372708	108564530	50781443	12	13152											
PTPRZ1	0	.	GRCh38	chr7	122061138	122061138	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagcacaaggcaggaagAgaatccatccacctctctgg	12	7	11	11	0	1	2	0	1	1	1	4	4	3	3	3	3	1	2	3	3	3	0	novel		C3N-00223_TP	C3N-00223_NB	A	A																c.6866A>C	p.Glu2289Ala	p.E2289A	ENST00000393386	30/30	81	72	9	95	95	0	strelka-varscan-mutect	PTPRZ1,missense_variant,p.Glu2289Ala,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,missense_variant,p.Glu1422Ala,ENST00000449182,NM_001206839.1;PTPRZ1,non_coding_transcript_exon_variant,,ENST00000474500,;	C	ENST00000393386	Transcript	missense_variant	7277/8175	6866/6948	2289/2315	E/A	gAg/gCg		1		1	PTPRZ1	HGNC	HGNC:9685	protein_coding	YES	CCDS34740.1	ENSP00000377047	P23471		UPI000020F9BB	NM_001206838.1,NM_002851.2	deleterious(0.01)		30/30																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	44	122061138	122061138	A	C	1	0	0	0	0	1	0	0	0	12969	304	11	5		5	PTPRZ1	7	122061138	Missense_Mutation	SNP	A	C3N-00223_TP	13496608	122061138	37284835	13	13153											
NCOA2	0	.	GRCh38	chr8	70138301	70138302	+	Frame_Shift_Ins	INS	-	-	C																															gttgttggctatactgaggtINSccccccatgttcatctctaa																								novel		C3N-00223_TP	C3N-00223_NB	-	-																c.3059dupG	p.Pro1021ThrfsTer4	p.P1021Tfs*4	ENST00000452400	15/23	154	115	39	117	117	0	sindel-varindel-pindel	NCOA2,frameshift_variant,p.Pro1021ThrfsTer4,ENST00000452400,NM_001321703.1,NM_001321707.1,NM_001321713.1,NM_006540.2;NCOA2,frameshift_variant,p.Pro147ThrfsTer4,ENST00000518363,;NCOA2,3_prime_UTR_variant,,ENST00000518287,;NCOA2,non_coding_transcript_exon_variant,,ENST00000522054,;	C	ENST00000452400	Transcript	frameshift_variant	3241-3242/8447	3059-3060/4395	1020/1464	G/GX	gga/ggGa		1		-1	NCOA2	HGNC	HGNC:7669	protein_coding	YES	CCDS47872.1	ENSP00000399968	Q15596		UPI000012FE42	NM_001321703.1,NM_001321707.1,NM_001321713.1,NM_006540.2			15/23		hmmpanther:PTHR10684:SF2,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181																	HIGH	1	insertion	1			1										PASS		.	.												C	7	5	44	70138301	70138301	-	C	1	0	1	1	0	0	0	0	0	10248	1654	58	0		0	NCOA2	8	70138301	Frame_Shift_Ins	INS	-	C3N-00223_TP		70138301	75000335	14	13154											
COL14A1	0	.	GRCh38	chr8	120197843	120197843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagtggtgaccccagaataGaatggcacttgaatgcattt	13	11	10	7	0	0	4	0	2	0	2	0	4	0	4	2	2	1	2	2	2	5	4			C3N-00223_TP	C3N-00223_NB	G	G																c.625G>C	p.Glu209Gln	p.E209Q	ENST00000297848	7/48	310	188	122	161	161	0	strelka-varscan-mutect	COL14A1,missense_variant,p.Glu209Gln,ENST00000297848,NM_021110.2;COL14A1,missense_variant,p.Glu209Gln,ENST00000309791,;COL14A1,missense_variant,p.Glu209Gln,ENST00000537875,;COL14A1,missense_variant,p.Glu22Gln,ENST00000434620,;COL14A1,intron_variant,,ENST00000523142,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;COL14A1,missense_variant,p.Glu209Gln,ENST00000498051,;	C	ENST00000297848	Transcript	missense_variant	895/6466	625/5391	209/1796	E/Q	Gaa/Caa	COSM1095602	1		1	COL14A1	HGNC	HGNC:2191	protein_coding	YES	CCDS34938.1	ENSP00000297848	Q05707		UPI000046D377	NM_021110.2	deleterious(0)		7/48		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF53,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300											1						MODERATE	1	SNV	5		1	1										PASS		.	.												C	3	2	44	120197843	120197843	G	C	1	0	0	0	0	1	0	0	0	3459	943	33	4		4	COL14A1	8	120197843	Missense_Mutation	SNP	G	C3N-00223_TP	50059542	120197843	24940793	15	13155											
GOLGA1	0	.	GRCh38	chr9	124921148	124921148	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttttgcaaatcaatggaaAgctgctgaatgagtgcttgg	11	12	11	7	0	1	2	1	2	0	0	1	3	1	3	1	2	4	4	1	2	4	3	novel		C3N-00223_TP	C3N-00223_NB	A	A																c.824T>G	p.Leu275Arg	p.L275R	ENST00000373555	10/23	245	204	41	187	186	1	strelka-mutect	GOLGA1,missense_variant,p.Leu275Arg,ENST00000373555,NM_002077.3;GOLGA1,missense_variant,p.Leu51Arg,ENST00000485337,;GOLGA1,intron_variant,,ENST00000475407,;	C	ENST00000373555	Transcript	missense_variant	1158/4811	824/2304	275/767	L/R	cTt/cGt		1		-1	GOLGA1	HGNC	HGNC:4424	protein_coding	YES	CCDS6860.1	ENSP00000362656	Q92805		UPI000013D059	NM_002077.3	deleterious(0)		10/23		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	44	124921148	124921148	A	C	1	0	0	0	0	1	0	0	0	6430	72	3	5		5	GOLGA1	9	124921148	Missense_Mutation	SNP	A	C3N-00223_TP		124921148	13473569	16	13156											
WAC	0	.	GRCh38	chr10	28608300	28608300	+	Frame_Shift_Del	DEL	T	T	-																															atctgcttcagcggtccctgTttctcctgttccacagtcgc																								novel		C3N-00223_TP	C3N-00223_NB	T	T																c.1036delT	p.Ser346LeufsTer41	p.S346Lfs*41	ENST00000354911	8/14	311	266	45	337	337	0	sindel-varindel-pindel	WAC,frameshift_variant,p.Ser301LeufsTer41,ENST00000375664,NM_100264.2;WAC,frameshift_variant,p.Ser346LeufsTer41,ENST00000354911,NM_016628.4;WAC,frameshift_variant,p.Ser243LeufsTer41,ENST00000347934,NM_100486.3;WAC,frameshift_variant,p.Ser198LeufsTer41,ENST00000375646,;WAC,3_prime_UTR_variant,,ENST00000628285,;WAC,3_prime_UTR_variant,,ENST00000428935,;WAC,frameshift_variant,p.Ser301LeufsTer41,ENST00000439676,;WAC,3_prime_UTR_variant,,ENST00000424454,;WAC,non_coding_transcript_exon_variant,,ENST00000345541,;WAC,non_coding_transcript_exon_variant,,ENST00000476046,;WAC,upstream_gene_variant,,ENST00000495268,;	-	ENST00000354911	Transcript	frameshift_variant	1195/3042	1034/1944	345/647	V/X	gTt/gt		1		1	WAC	HGNC	HGNC:17327	protein_coding	YES	CCDS7159.1	ENSP00000346986	Q9BTA9		UPI000013D398	NM_016628.4			8/14		hmmpanther:PTHR15911,hmmpanther:PTHR15911:SF6,Low_complexity_(Seg):seg																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	44	28608300	28608300	T	-	1	0	1	0	1	0	0	0	0	17807	1725	60	0		0	WAC	10	28608300	Frame_Shift_Del	DEL	T	C3N-00223_TP		28608300	105189122	17	13157											
ARID5B	0	.	GRCh38	chr10	62092988	62092988	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctcaagctgcctttccAtcttcccagctgtcatccgt	7	13	5	16	1	3	0	2	0	1	0	7	0	7	0	5	0	3	2	5	0	2	2	novel		C3N-00223_TP	C3N-00223_NB	A	A																c.3525A>G	p.=	p.P1175P	ENST00000279873	10/10	98	86	12	79	79	0	strelka-varscan-mutect	ARID5B,synonymous_variant,p.=,ENST00000279873,NM_032199.2;ARID5B,synonymous_variant,p.=,ENST00000309334,NM_001244638.1;	G	ENST00000279873	Transcript	synonymous_variant	3935/7891	3525/3567	1175/1188	P	ccA/ccG		1		1	ARID5B	HGNC	HGNC:17362	protein_coding	YES	CCDS31208.1	ENSP00000279873	Q14865		UPI00001606F0	NM_032199.2			10/10		hmmpanther:PTHR13964:SF29,hmmpanther:PTHR13964																	LOW	1	SNV	2			1										PASS		.	.												G	2	3	44	62092988	62092988	A	G	1	0	0	0	0	0	0	0	1	1058	204	8	5		5	ARID5B	10	62092988	Silent	SNP	A	C3N-00223_TP	33484688	62092988	71704434	18	13158											
ESAM	0	.	GRCh38	chr11	124756592	124756593	+	Frame_Shift_Ins	INS	-	-	T																															tggcccctagatttgccttgINStttgtcttgcacattcacgg																								novel		C3N-00223_TP	C3N-00223_NB	-	-																c.399dupA	p.Gln134ThrfsTer5	p.Q134Tfs*5	ENST00000278927	3/7	206	178	28	180	180	0	sindel-pindel	ESAM,frameshift_variant,p.Gln134ThrfsTer5,ENST00000278927,NM_138961.2;ESAM,intron_variant,,ENST00000435477,;ESAM,intron_variant,,ENST00000444566,;VSIG2,upstream_gene_variant,,ENST00000403470,;VSIG2,upstream_gene_variant,,ENST00000326621,NM_014312.3;RP11-677M14.3,upstream_gene_variant,,ENST00000504932,;ESAM,frameshift_variant,p.Gln134ThrfsTer5,ENST00000417453,;ESAM,non_coding_transcript_exon_variant,,ENST00000464067,;ESAM,non_coding_transcript_exon_variant,,ENST00000485116,;	T	ENST00000278927	Transcript	frameshift_variant	529-530/1826	399-400/1173	133-134/390	-/X	-/A		1		-1	ESAM	HGNC	HGNC:17474	protein_coding	YES	CCDS8453.1	ENSP00000278927	Q96AP7		UPI000003721A	NM_138961.2			3/7		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF126,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	44	124756592	124756592	-	T	1	0	1	1	0	0	0	0	0	5109	1386	48	0		0	ESAM	11	124756592	Frame_Shift_Ins	INS	-	C3N-00223_TP		124756592	10330030	19	13159											
CALCOCO1	0	.	GRCh38	chr12	53715879	53715879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagctcagccagcctgcCgttaacttcagccacttcca	9	8	7	17	2	2	0	2	0	0	0	3	1	3	0	6	0	6	2	6	0	1	3			C3N-00223_TP	C3N-00223_NB	C	C																c.1174G>A	p.Gly392Ser	p.G392S	ENST00000550804	9/15	304	275	29	280	280	0	strelka-varscan-mutect	CALCOCO1,missense_variant,p.Gly392Ser,ENST00000262059,;CALCOCO1,missense_variant,p.Gly392Ser,ENST00000548263,;CALCOCO1,missense_variant,p.Gly307Ser,ENST00000430117,NM_001143682.1;CALCOCO1,missense_variant,p.Gly392Ser,ENST00000550804,NM_020898.2;CALCOCO1,upstream_gene_variant,,ENST00000546443,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000549935,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000549613,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000552282,;CALCOCO1,downstream_gene_variant,,ENST00000547988,;	T	ENST00000550804	Transcript	missense_variant	1235/2291	1174/2076	392/691	G/S	Ggc/Agc	COSM4871610,COSM941047	1		-1	CALCOCO1	HGNC	HGNC:29306	protein_coding	YES	CCDS8864.1	ENSP00000449960	Q9P1Z2	A0A024RAZ1	UPI0000037D7A	NM_020898.2	deleterious(0.03)		9/15		Pfam_domain:PF07888,hmmpanther:PTHR31915,hmmpanther:PTHR31915:SF5											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1282288769	.												T	3	4	44	53715879	53715879	C	T	1	0	0	0	0	1	0	0	0	2267	652	23	1		1	CALCOCO1	12	53715879	Missense_Mutation	SNP	C	C3N-00223_TP		53715879	79559430	20	13160											
TEX26	0	.	GRCh38	chr13	30952821	30952821	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagccacaaatctcatctcaAtgaagtaagataatatctac	17	10	5	9	0	3	2	2	1	3	1	5	3	3	2	1	0	2	1	1	0	7	4	rs142207829		C3N-00223_TP	C3N-00223_NB	A	A																c.308A>T	p.Asn103Ile	p.N103I	ENST00000380473	3/7	227	185	42	252	252	0	strelka-varscan-mutect	TEX26,missense_variant,p.Asn103Ile,ENST00000380473,NM_152325.1;TEX26,upstream_gene_variant,,ENST00000530916,;TEX26,intron_variant,,ENST00000531960,;	T	ENST00000380473	Transcript	missense_variant	321/1478	308/870	103/289	N/I	aAt/aTt	rs142207829	1		1	TEX26	HGNC	HGNC:28622	protein_coding	YES	CCDS9339.1	ENSP00000369840	Q8N6G2		UPI0000070D41	NM_152325.1	tolerated(0.15)		3/7		hmmpanther:PTHR33769:SF1,hmmpanther:PTHR33769																	MODERATE	1	SNV	1			1										PASS		rs142207829	.												T	3	4	44	30952821	30952821	A	T	1	0	0	0	0	1	0	0	0	16205	115	4	4		4	TEX26	13	30952821	Missense_Mutation	SNP	A	C3N-00223_TP		30952821	83411507	21	13161											
ADAM20	0	.	GRCh38	chr14	70522580	70522580	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttcccatttctcttaTccttcttcatcttctttact	4	24	0	13	0	6	0	1	0	5	0	9	0	8	0	2	0	1	0	2	0	2	9	rs767490191		C3N-00223_TP	C3N-00223_NB	T	T																c.2328A>T	p.=	p.G776G	ENST00000256389	2/2	78	70	8	86	86	0	strelka-varscan-mutect	ADAM20,synonymous_variant,p.=,ENST00000256389,NM_003814.4;RP11-486O13.4,intron_variant,,ENST00000556646,;	A	ENST00000256389	Transcript	synonymous_variant	2573/2795	2328/2331	776/776	G	ggA/ggT	rs767490191	1		-1	ADAM20	HGNC	HGNC:199	protein_coding	YES	CCDS32111.1	ENSP00000256389	O43506		UPI0000183495	NM_003814.4			2/2																			LOW	1	SNV	1			1										PASS		rs767490191	.												A	2	1	44	70522580	70522580	T	A	1	0	0	0	0	0	0	0	1	286	1422	50	4		4	ADAM20	14	70522580	Silent	SNP	T	C3N-00223_TP		70522580	36521138	22	13162											
NPAP1	0	.	GRCh38	chr15	24677752	24677752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacttccatttatattcCacaataccaccccaagtttt	11	13	1	16	0	0	0	0	0	0	0	2	0	2	0	7	0	1	1	7	0	5	8			C3N-00223_TP	C3N-00223_NB	C	C																c.1885C>A	p.His629Asn	p.H629N	ENST00000329468	1/1	236	198	38	207	206	1	strelka-varscan-mutect	NPAP1,missense_variant,p.His629Asn,ENST00000329468,NM_018958.2;	A	ENST00000329468	Transcript	missense_variant	1885/7526	1885/3471	629/1156	H/N	Cac/Aac	COSM5252146	1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2	tolerated(0.52)		1/1		hmmpanther:PTHR23193:SF15,hmmpanther:PTHR23193											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	44	24677752	24677752	C	A	1	0	0	0	0	1	0	0	0	10609	594	21	2		2	NPAP1	15	24677752	Missense_Mutation	SNP	C	C3N-00223_TP		24677752	77313437	23	13163											
HYPK	0	.	GRCh38	chr15	43801148	43801148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataggccatgtctgtgattgGagacagaaggtcccgggagc	10	8	15	8	1	1	3	0	1	1	2	2	5	2	4	2	4	1	0	2	4	2	2	novel		C3N-00223_TP	C3N-00223_NB	G	G																c.203G>T	p.Gly68Val	p.G68V	ENST00000406925	3/5	197	171	26	149	149	0	strelka-varscan-mutect	HYPK,missense_variant,p.Gly68Val,ENST00000406925,;HYPK,missense_variant,p.Gly68Val,ENST00000442995,NM_016400.3;HYPK,intron_variant,,ENST00000458412,;SERINC4,upstream_gene_variant,,ENST00000319327,NM_001258031.1,NM_001258032.1;SERINC4,upstream_gene_variant,,ENST00000299969,;MFAP1,downstream_gene_variant,,ENST00000267812,NM_005926.2;SERF2,downstream_gene_variant,,ENST00000630046,;SERF2,downstream_gene_variant,,ENST00000409291,;SERF2,downstream_gene_variant,,ENST00000409646,;SERF2,downstream_gene_variant,,ENST00000430901,;HYPK,non_coding_transcript_exon_variant,,ENST00000498605,;HYPK,intron_variant,,ENST00000497142,;SERF2,3_prime_UTR_variant,,ENST00000448830,;SERF2,3_prime_UTR_variant,,ENST00000409617,;SERINC4,upstream_gene_variant,,ENST00000457418,;RP11-296A16.1,upstream_gene_variant,,ENST00000417761,;SERINC4,upstream_gene_variant,,ENST00000448553,;SERINC4,upstream_gene_variant,,ENST00000412697,;SERINC4,upstream_gene_variant,,ENST00000476490,;MFAP1,downstream_gene_variant,,ENST00000484386,;	T	ENST00000406925	Transcript	missense_variant	4314/4777	203/390	68/129	G/V	gGa/gTa		1		1	HYPK	HGNC	HGNC:18418	protein_coding	YES	CCDS10104.1	ENSP00000384474	Q9NX55	A0A024R5Q1	UPI000000D937		deleterious(0.02)		3/5		hmmpanther:PTHR31184:SF2,hmmpanther:PTHR31184																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	44	43801148	43801148	G	T	1	0	0	0	0	1	0	0	0	7368	1174	41	2		2	HYPK	15	43801148	Missense_Mutation	SNP	G	C3N-00223_TP	19123396	43801148	58190041	24	13164											
STX1B	0	.	GRCh38	chr16	31001528	31001528	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggccttggaggcccattaCctgttcaaagaactcatcca	10	9	10	12	0	2	1	2	0	0	1	3	2	3	2	4	4	2	1	4	4	3	3	novel		C3N-00223_TP	C3N-00223_NB	C	C																c.105+1G>A		p.X35_splice	ENST00000215095		76	63	13	71	71	0	strelka-varscan-mutect	STX1B,splice_donor_variant,,ENST00000215095,NM_052874.4;STX1B,splice_donor_variant,,ENST00000565419,;STX1B,upstream_gene_variant,,ENST00000569638,;STX1B,splice_donor_variant,,ENST00000561836,;STX1B,upstream_gene_variant,,ENST00000566211,;	T	ENST00000215095	Transcript	splice_donor_variant	-/4664	105/867	35/288				1		-1	STX1B	HGNC	HGNC:18539	protein_coding	YES	CCDS10699.1	ENSP00000215095	P61266		UPI0000000C13	NM_052874.4				2/9																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	44	31001528	31001528	C	T	1	0	0	0	0	0	0	1	0	15728	521	18	3		3	STX1B	16	31001528	Splice_Site	SNP	C	C3N-00223_TP		31001528	59336817	25	13165											
JPH3	0	.	GRCh38	chr16	87644625	87644625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcgcagcgaggcgggcatGagcaccgtcagctccacggc	7	6	14	14	5	1	1	1	1	0	0	3	2	2	1	2	3	3	4	2	3	0	1	novel		C3N-00223_TP	C3N-00223_NB	G	G																c.750G>A	p.Met250Ile	p.M250I	ENST00000284262	2/5	323	305	18	298	298	0	strelka-varscan-mutect	JPH3,missense_variant,p.Met250Ile,ENST00000284262,NM_020655.3;JPH3,non_coding_transcript_exon_variant,,ENST00000537256,;	A	ENST00000284262	Transcript	missense_variant	992/3985	750/2247	250/748	M/I	atG/atA		1		1	JPH3	HGNC	HGNC:14203	protein_coding	YES	CCDS10962.1	ENSP00000284262	Q8WXH2		UPI000012DAC4	NM_020655.3	tolerated(0.08)		2/5		PIRSF_domain:PIRSF037387,hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	44	87644625	87644625	G	A	1	0	0	0	0	1	0	0	0	7874	1290	45	3		3	JPH3	16	87644625	Missense_Mutation	SNP	G	C3N-00223_TP	56643097	87644625	2693720	26	13166											
MFSD11	0	.	GRCh38	chr17	76738963	76738963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatcaggagcttaaataGgacagattttcacggcagtg	12	11	11	7	1	3	1	3	0	0	1	3	3	3	3	0	3	1	2	0	3	3	4	novel		C3N-00223_TP	C3N-00223_NB	G	G																c.122G>C	p.Arg41Thr	p.R41T	ENST00000588460	2/13	173	163	10	151	151	0	strelka-varscan-mutect	MFSD11,missense_variant,p.Arg41Thr,ENST00000588460,;MFSD11,missense_variant,p.Arg41Thr,ENST00000586622,;MFSD11,missense_variant,p.Arg41Thr,ENST00000621483,NM_001242534.1;MFSD11,missense_variant,p.Arg41Thr,ENST00000355954,NM_001242537.1,NM_001242536.1;MFSD11,missense_variant,p.Arg41Thr,ENST00000336509,NM_024311.3,NM_001242535.1,NM_001242532.1,NM_001242533.1;MFSD11,missense_variant,p.Arg41Thr,ENST00000593181,;MFSD11,missense_variant,p.Arg41Thr,ENST00000590514,;MFSD11,missense_variant,p.Arg41Thr,ENST00000587661,;MFSD11,missense_variant,p.Arg41Thr,ENST00000586689,;SRSF2,upstream_gene_variant,,ENST00000392485,NM_003016.4;SRSF2,upstream_gene_variant,,ENST00000359995,NM_001195427.1;SRSF2,upstream_gene_variant,,ENST00000508921,;MFSD11,downstream_gene_variant,,ENST00000590393,;SRSF2,upstream_gene_variant,,ENST00000358156,;SRSF2,upstream_gene_variant,,ENST00000583836,;RP11-318A15.7,downstream_gene_variant,,ENST00000587459,;MFSD11,downstream_gene_variant,,ENST00000591864,;SRSF2,upstream_gene_variant,,ENST00000384825,;MFSD11,missense_variant,p.Arg22Thr,ENST00000588768,;MFSD11,missense_variant,p.Arg41Thr,ENST00000588670,;MFSD11,missense_variant,p.Arg41Thr,ENST00000588031,;SRSF2,upstream_gene_variant,,ENST00000582449,;SRSF2,upstream_gene_variant,,ENST00000585202,;SRSF2,upstream_gene_variant,,ENST00000452355,;SRSF2,upstream_gene_variant,,ENST00000586778,;SRSF2,upstream_gene_variant,,ENST00000589919,;SRSF2,upstream_gene_variant,,ENST00000592676,;MFSD11,upstream_gene_variant,,ENST00000585584,;	C	ENST00000588460	Transcript	missense_variant	2164/3612	122/1350	41/449	R/T	aGg/aCg		1		1	MFSD11	HGNC	HGNC:25458	protein_coding	YES	CCDS11750.1	ENSP00000464932	O43934	A0A024R8U7	UPI0000073F31		tolerated(0.36)		2/13		Gene3D:1.20.1250.20,Pfam_domain:PF05978,hmmpanther:PTHR23294,hmmpanther:PTHR23294:SF23,Superfamily_domains:SSF103473																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	44	76738963	76738963	G	C	1	0	0	0	0	1	0	0	0	9481	1000	35	4		4	MFSD11	17	76738963	Missense_Mutation	SNP	G	C3N-00223_TP		76738963	6518478	27	13167											
PSMA8	0	.	GRCh38	chr18	26192331	26192331	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttcagatgtttagtgcaAaagaagttgaattatatgta	14	16	8	3	0	1	3	1	1	0	2	1	3	1	3	0	0	1	4	0	0	8	8	rs773612544		C3N-00223_TP	C3N-00223_NB	A	A																c.691A>C	p.Lys231Gln	p.K231Q	ENST00000308268	7/7	50	43	7	71	71	0	strelka-varscan-mutect	PSMA8,missense_variant,p.Lys231Gln,ENST00000308268,NM_144662.2;PSMA8,missense_variant,p.Lys187Gln,ENST00000343848,NM_001025097.1;PSMA8,missense_variant,p.Lys199Gln,ENST00000612461,NM_001308188.1;PSMA8,missense_variant,p.Lys225Gln,ENST00000415576,NM_001025096.1;PSMA8,3_prime_UTR_variant,,ENST00000538664,;	C	ENST00000308268	Transcript	missense_variant	780/1804	691/771	231/256	K/Q	Aaa/Caa	rs773612544	1		1	PSMA8	HGNC	HGNC:22985	protein_coding	YES	CCDS32808.1	ENSP00000311121	Q8TAA3		UPI000013ECFF	NM_144662.2	tolerated(0.21)		7/7		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51475,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF47,Gene3D:3.60.20.10,Superfamily_domains:SSF56235																	MODERATE	1	SNV	1			1										PASS		rs773612544	.												C	3	2	44	26192331	26192331	A	C	1	0	0	0	0	1	0	0	0	12824	15	1	5		5	PSMA8	18	26192331	Missense_Mutation	SNP	A	C3N-00223_TP		26192331	54180954	28	13168											
CNDP2	0	.	GRCh38	chr18	74512534	74512534	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatctcattttgctgatgggTaagtgcgggatggcattcag	8	13	14	6	1	2	1	2	1	1	0	3	3	2	2	0	3	2	3	0	3	1	4	novel		C3N-00223_TP	C3N-00223_NB	T	T																c.742+2T>G		p.X248_splice	ENST00000324262		73	69	4	87	87	0	varscan-mutect	CNDP2,splice_donor_variant,,ENST00000324262,NM_018235.2;CNDP2,splice_donor_variant,,ENST00000579847,;CNDP2,splice_donor_variant,,ENST00000324301,NM_001168499.1;CNDP2,splice_donor_variant,,ENST00000579624,;CNDP2,splice_donor_variant,,ENST00000583785,;CNDP2,downstream_gene_variant,,ENST00000584768,;CNDP2,downstream_gene_variant,,ENST00000580672,;CNDP2,downstream_gene_variant,,ENST00000583216,;CNDP2,downstream_gene_variant,,ENST00000582666,;CNDP2,downstream_gene_variant,,ENST00000581513,;CNDP2,downstream_gene_variant,,ENST00000581272,;CNDP2,downstream_gene_variant,,ENST00000582589,;CNDP2,downstream_gene_variant,,ENST00000577355,;CNDP2,downstream_gene_variant,,ENST00000579583,;CNDP2,splice_donor_variant,,ENST00000583695,;CNDP2,splice_donor_variant,,ENST00000582620,;CNDP2,splice_donor_variant,,ENST00000577669,;CNDP2,splice_donor_variant,,ENST00000584581,;CNDP2,splice_donor_variant,,ENST00000583938,;CNDP2,downstream_gene_variant,,ENST00000585263,;CNDP2,downstream_gene_variant,,ENST00000582260,;CNDP2,upstream_gene_variant,,ENST00000581600,;CNDP2,upstream_gene_variant,,ENST00000577409,;	G	ENST00000324262	Transcript	splice_donor_variant	-/5130	742/1428	248/475				1		1	CNDP2	HGNC	HGNC:24437	protein_coding	YES	CCDS12006.1	ENSP00000325548	Q96KP4		UPI00000463FE	NM_018235.2				7/11																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	44	74512534	74512534	T	G	1	0	0	0	0	0	0	1	0	3373	1652	57	5		5	CNDP2	18	74512534	Splice_Site	SNP	T	C3N-00223_TP	48320203	74512534	5860751	29	13169											
STAP2	0	.	GRCh38	chr19	4327152	4327152	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcgtagtcctcgtctaaCaggaatggcaccagcgcctt	8	11	9	13	3	2	0	0	0	2	0	5	1	3	1	3	2	2	2	3	2	3	4			C3N-00223_TP	C3N-00223_NB	C	C																c.735G>T	p.=	p.L245L	ENST00000600324	8/13	283	234	49	284	284	0	strelka-varscan-mutect	STAP2,synonymous_variant,p.=,ENST00000600324,NM_017720.2;STAP2,synonymous_variant,p.=,ENST00000594605,NM_001013841.1;STAP2,synonymous_variant,p.=,ENST00000601482,;STAP2,synonymous_variant,p.=,ENST00000598443,;FSD1,downstream_gene_variant,,ENST00000221856,NM_024333.2;FSD1,downstream_gene_variant,,ENST00000597590,;FSD1,downstream_gene_variant,,ENST00000597480,;STAP2,upstream_gene_variant,,ENST00000601956,;FSD1,downstream_gene_variant,,ENST00000594438,;FSD1,downstream_gene_variant,,ENST00000601006,;STAP2,non_coding_transcript_exon_variant,,ENST00000597593,;STAP2,3_prime_UTR_variant,,ENST00000599736,;STAP2,non_coding_transcript_exon_variant,,ENST00000602007,;STAP2,non_coding_transcript_exon_variant,,ENST00000596242,;STAP2,non_coding_transcript_exon_variant,,ENST00000601179,;FSD1,downstream_gene_variant,,ENST00000598179,;	A	ENST00000600324	Transcript	synonymous_variant	803/1508	735/1350	245/449	L	ctG/ctT	COSM566622	1		-1	STAP2	HGNC	HGNC:30430	protein_coding	YES	CCDS12128.1	ENSP00000468927	Q9UGK3		UPI00001AF0BC	NM_017720.2			8/13		hmmpanther:PTHR16186,hmmpanther:PTHR16186:SF11											1						LOW		SNV	2		1	1										PASS		.	.												A	2	1	44	4327152	4327152	C	A	1	0	0	0	0	0	0	0	1	15628	465	17	2		2	STAP2	19	4327152	Silent	SNP	C	C3N-00223_TP		4327152	54290464	30	13170											
ZNF226	0	.	GRCh38	chr19	44175886	44175886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtgttgatcccatcggttgGatttcacatcatgatggtca	8	14	11	8	1	3	2	3	2	0	0	5	3	4	3	1	4	0	2	1	4	0	3	novel		C3N-00223_TP	C3N-00223_NB	G	G																c.624G>C	p.Trp208Cys	p.W208C	ENST00000590089	7/7	135	103	32	147	147	0	strelka-varscan-mutect	ZNF226,missense_variant,p.Trp208Cys,ENST00000590089,NM_016444.2;ZNF226,missense_variant,p.Trp208Cys,ENST00000454662,NM_001319090.1,NM_001319089.1,NM_001319088.1,NM_001032372.1;ZNF226,missense_variant,p.Trp208Cys,ENST00000337433,NM_001032373.1;ZNF226,3_prime_UTR_variant,,ENST00000588883,;ZNF226,downstream_gene_variant,,ENST00000300823,NM_015919.3;ZNF226,downstream_gene_variant,,ENST00000413984,NM_001032374.1;ZNF226,downstream_gene_variant,,ENST00000589160,;ZNF226,downstream_gene_variant,,ENST00000588795,;ZNF226,downstream_gene_variant,,ENST00000590524,;ZNF226,downstream_gene_variant,,ENST00000585678,;ZNF226,downstream_gene_variant,,ENST00000586914,;ZNF226,downstream_gene_variant,,ENST00000588127,;ZNF226,downstream_gene_variant,,ENST00000586203,;ZNF226,downstream_gene_variant,,ENST00000590578,;ZNF226,downstream_gene_variant,,ENST00000590467,;ZNF226,downstream_gene_variant,,ENST00000586286,;ZNF226,downstream_gene_variant,,ENST00000585560,;ZNF226,downstream_gene_variant,,ENST00000588742,NM_001146220.2;ZNF226,downstream_gene_variant,,ENST00000590759,;	C	ENST00000590089	Transcript	missense_variant	991/2788	624/2412	208/803	W/C	tgG/tgC		1		1	ZNF226	HGNC	HGNC:13019	protein_coding	YES	CCDS46102.1	ENSP00000465121	Q9NYT6	A0A024R0P4	UPI000013C32A	NM_016444.2	tolerated(0.26)		7/7																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	44	44175886	44175886	G	C	1	0	0	0	0	1	0	0	0	18357	1183	41	4		4	ZNF226	19	44175886	Missense_Mutation	SNP	G	C3N-00223_TP	39848734	44175886	14441730	31	13171											
ARHGAP35	0	.	GRCh38	chr19	46921192	46921192	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaactgtctgttctttcAtaccattcctcctttagcat	8	18	4	11	0	3	1	1	1	2	0	5	1	5	1	3	0	3	2	3	0	3	7	novel		C3N-00223_TP	C3N-00223_NB	A	A																c.2517A>G	p.=	p.S839S	ENST00000404338	1/6	290	240	50	287	287	0	strelka-varscan-mutect	ARHGAP35,synonymous_variant,p.=,ENST00000404338,NM_004491.4;ARHGAP35,synonymous_variant,p.=,ENST00000614079,;ARHGAP35,intron_variant,,ENST00000615647,;	G	ENST00000404338	Transcript	synonymous_variant	2517/8889	2517/4500	839/1499	S	tcA/tcG		1		1	ARHGAP35	HGNC	HGNC:4591	protein_coding	YES	CCDS46127.1	ENSP00000385720	Q9NRY4		UPI0000163F71	NM_004491.4			1/6																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	44	46921192	46921192	A	G	1	0	0	0	0	0	0	0	1	1008	204	8	5		5	ARHGAP35	19	46921192	Silent	SNP	A	C3N-00223_TP	2745306	46921192	11696424	32	13172											
PPP2R1A	0	.	GRCh38	chr19	52221085	52221085	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggtcttggccatgtcCggagaccccaactacctgca	9	7	9	16	1	1	1	0	0	1	1	2	2	2	1	6	3	3	1	6	3	3	2	rs187141962		C3N-00223_TP	C3N-00223_NB	C	C																c.1470C>T	p.=	p.S490S	ENST00000322088	12/15	265	217	48	207	207	0	strelka-varscan-mutect	PPP2R1A,synonymous_variant,p.=,ENST00000322088,NM_014225.5;PPP2R1A,synonymous_variant,p.=,ENST00000462990,;PPP2R1A,synonymous_variant,p.=,ENST00000391791,;PPP2R1A,downstream_gene_variant,,ENST00000454220,;MIR6801,upstream_gene_variant,,ENST00000614975,;CTD-2525I3.3,downstream_gene_variant,,ENST00000593857,;PPP2R1A,downstream_gene_variant,,ENST00000473820,;	T	ENST00000322088	Transcript	synonymous_variant	1528/5380	1470/1770	490/589	S	tcC/tcT	rs187141962,COSM713028	1		1	PPP2R1A	HGNC	HGNC:9302	protein_coding	YES	CCDS12849.1	ENSP00000324804	P30153	A8K7B7	UPI000006EB9C	NM_014225.5			12/15		hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF9,Gene3D:1.25.10.10,Superfamily_domains:SSF48371											0,1						LOW	1	SNV	1		0,1	1										PASS		rs187141962	.												T	2	4	44	52221085	52221085	C	T	1	0	0	0	0	0	0	0	1	12505	639	23	1		1	PPP2R1A	19	52221085	Silent	SNP	C	C3N-00223_TP	5299893	52221085	6396531	33	13173											
APOL1	0	.	GRCh38	chr22	36257362	36257362	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacagatactggagatcctCaaagtaagcccctcggtgac	12	7	11	11	1	1	3	1	1	0	2	3	5	2	4	3	3	2	1	3	3	3	2	novel		C3N-00223_TP	C3N-00223_NB	C	C																c.190C>T	p.Gln64Ter	p.Q64*	ENST00000319136	5/7	217	186	31	188	188	0	strelka-varscan-mutect	APOL1,stop_gained,p.Gln64Ter,ENST00000319136,NM_145343.2;APOL1,stop_gained,p.Gln48Ter,ENST00000397278,NM_003661.3;APOL1,stop_gained,p.Gln48Ter,ENST00000422706,NM_001136540.1;APOL1,stop_gained,p.Gln30Ter,ENST00000426053,NM_001136541.1;APOL1,stop_gained,p.Gln48Ter,ENST00000397279,;APOL1,stop_gained,p.Gln48Ter,ENST00000427990,;APOL1,stop_gained,p.Gln77Ter,ENST00000438034,;APOL1,stop_gained,p.Gln48Ter,ENST00000433768,;APOL1,stop_gained,p.Gln48Ter,ENST00000422471,;APOL1,stop_gained,p.Gln48Ter,ENST00000431184,;APOL1,stop_gained,p.Gln30Ter,ENST00000439680,;APOL1,non_coding_transcript_exon_variant,,ENST00000475519,;	T	ENST00000319136	Transcript	stop_gained	457/3000	190/1245	64/414	Q/*	Caa/Taa		1		1	APOL1	HGNC	HGNC:618	protein_coding	YES	CCDS13925.1	ENSP00000317674	O14791		UPI0000167BCC	NM_145343.2			5/7		hmmpanther:PTHR14096,hmmpanther:PTHR14096:SF38																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	44	36257362	36257362	C	T	1	0	0	0	0	0	1	0	0	927	827	29	3		3	APOL1	22	36257362	Nonsense_Mutation	SNP	C	C3N-00223_TP		36257362	14561106	34	13174											
UBE2J2	0	.	GRCh38	chr1	1255215	1255215	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgggcctcactcctgcgcGatgctcctcagcacgtactt	5	10	9	17	3	2	0	2	0	0	0	4	1	4	0	4	1	4	3	4	1	1	2	rs779886665		C3N-00293_TP	C3N-00293_NB	G	G																c.816C>T	p.=	p.I272I	ENST00000400930	8/8	91	84	7	56	56	0	strelka-varscan-mutect	UBE2J2,synonymous_variant,p.=,ENST00000347370,NM_194458.1;UBE2J2,synonymous_variant,p.=,ENST00000349431,NM_058167.2;UBE2J2,synonymous_variant,p.=,ENST00000400929,NM_194457.1;UBE2J2,synonymous_variant,p.=,ENST00000360466,;UBE2J2,synonymous_variant,p.=,ENST00000400930,NM_194315.1;UBE2J2,downstream_gene_variant,,ENST00000435198,;UBE2J2,downstream_gene_variant,,ENST00000422076,;UBE2J2,downstream_gene_variant,,ENST00000502382,;UBE2J2,downstream_gene_variant,,ENST00000509720,;RP5-902P8.12,upstream_gene_variant,,ENST00000565563,;UBE2J2,downstream_gene_variant,,ENST00000491779,;UBE2J2,downstream_gene_variant,,ENST00000467339,;UBE2J2,3_prime_UTR_variant,,ENST00000450390,;UBE2J2,3_prime_UTR_variant,,ENST00000464036,;UBE2J2,downstream_gene_variant,,ENST00000473215,;UBE2J2,downstream_gene_variant,,ENST00000466752,;UBE2J2,downstream_gene_variant,,ENST00000503294,;UBE2J2,downstream_gene_variant,,ENST00000477894,;UBE2J2,downstream_gene_variant,,ENST00000471154,;	A	ENST00000400930	Transcript	synonymous_variant	984/1021	816/828	272/275	I	atC/atT	rs779886665,COSM1333142,COSM4787262	1		-1	UBE2J2	HGNC	HGNC:19268	protein_coding	YES	CCDS15.1	ENSP00000383719	Q8N2K1		UPI00001D69F8	NM_194315.1			8/8													0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs779886665	.												A	2	1	45	1255215	1255215	G	A	1	0	0	0	0	0	0	0	1	17382	1048	37	1		1	UBE2J2	1	1255215	Silent	SNP	G	C3N-00293_TP		1255215	247701207	1	13175											
KAZN	0	.	GRCh38	chr1	15114578	15114578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagacgatgacccccagagCaggctggaacagtgccgtct	10	5	14	12	2	1	3	0	1	1	2	1	6	1	4	3	3	3	2	3	3	1	0	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.2271C>A	p.Ser757Arg	p.S757R	ENST00000376030	15/15	260	231	29	217	217	0	strelka-varscan-mutect	KAZN,missense_variant,p.Ser845Arg,ENST00000636203,;KAZN,missense_variant,p.Ser757Arg,ENST00000376030,NM_201628.2;TMEM51-AS1,non_coding_transcript_exon_variant,,ENST00000310916,;TMEM51-AS1,downstream_gene_variant,,ENST00000404665,;	A	ENST00000376030	Transcript	missense_variant	2565/6030	2271/2328	757/775	S/R	agC/agA		1		1	KAZN	HGNC	HGNC:29173	protein_coding	YES	CCDS152.2	ENSP00000365198	Q674X7		UPI0000E1E68A	NM_201628.2	deleterious_low_confidence(0.04)		15/15		hmmpanther:PTHR12776,hmmpanther:PTHR12776:SF1																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	45	15114578	15114578	C	A	1	0	0	0	0	1	0	0	0	7907	709	25	2		2	KAZN	1	15114578	Missense_Mutation	SNP	C	C3N-00293_TP	13859363	15114578	233841844	2	13176											
RSC1A1	0	.	GRCh38	chr1	15659932	15659932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcttcaggacagagtcctGatgttggtaatcctatgagt	9	14	11	7	0	2	3	1	2	1	1	4	4	4	4	2	2	0	3	2	2	2	5	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.64G>A	p.Asp22Asn	p.D22N	ENST00000345034	1/1	130	123	7	89	88	1	strelka-mutect	RSC1A1,missense_variant,p.Asp22Asn,ENST00000345034,NM_006511.1;DDI2,3_prime_UTR_variant,,ENST00000480945,NM_032341.4;DDI2,3_prime_UTR_variant,,ENST00000320153,;DDI2,downstream_gene_variant,,ENST00000548451,;	A	ENST00000345034	Transcript	missense_variant	64/1854	64/1854	22/617	D/N	Gat/Aat		1		1	RSC1A1	HGNC	HGNC:10458	protein_coding	YES	CCDS161.1	ENSP00000341963	Q92681		UPI00000715AC	NM_006511.1	deleterious(0.01)		1/1		hmmpanther:PTHR15397,hmmpanther:PTHR15397:SF2																	MODERATE		SNV				1										PASS		.	.												A	3	1	45	15659932	15659932	G	A	1	0	0	0	0	1	0	0	0	13954	1290	45	3		3	RSC1A1	1	15659932	Missense_Mutation	SNP	G	C3N-00293_TP	545354	15659932	233296490	3	13177											
UBR4	0	.	GRCh38	chr1	19198593	19198593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttctagggttaaaaactGaggtcagctggttcaaaaaa	15	10	10	6	0	3	1	2	1	1	0	3	1	3	1	0	3	2	4	0	3	7	4	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.596C>T	p.Ser199Leu	p.S199L	ENST00000375254	5/106	261	246	15	175	175	0	strelka-varscan-mutect	UBR4,missense_variant,p.Ser199Leu,ENST00000375254,NM_020765.2;	A	ENST00000375254	Transcript	missense_variant	624/15906	596/15552	199/5183	S/L	tCa/tTa		1		-1	UBR4	HGNC	HGNC:30313	protein_coding	YES	CCDS189.1	ENSP00000364403	Q5T4S7		UPI000021276F	NM_020765.2	tolerated(0.07)		5/106		hmmpanther:PTHR21725																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	19198593	19198593	G	A	1	0	0	0	0	1	0	0	0	17428	1294	45	3		3	UBR4	1	19198593	Missense_Mutation	SNP	G	C3N-00293_TP	3538661	19198593	229757829	4	13178											
IQCC	0	.	GRCh38	chr1	32207497	32207497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacattgctggggctaaGtgcagagaaccatgctacag	15	7	11	8	0	0	1	0	0	0	1	0	2	0	1	1	2	6	4	1	2	5	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1056G>T	p.Lys352Asn	p.K352N	ENST00000537469	5/5	156	137	19	90	90	0	strelka-varscan-mutect	IQCC,missense_variant,p.Lys352Asn,ENST00000537469,NM_001160042.1;IQCC,missense_variant,p.Lys272Asn,ENST00000291358,NM_018134.2;CCDC28B,downstream_gene_variant,,ENST00000421922,NM_001301011.1;DCDC2B,upstream_gene_variant,,ENST00000409358,NM_001099434.1;CCDC28B,downstream_gene_variant,,ENST00000373602,NM_024296.4;RP4-622L5.7,upstream_gene_variant,,ENST00000421616,;RP4-622L5.7,upstream_gene_variant,,ENST00000373604,;CCDC28B,downstream_gene_variant,,ENST00000483009,;IQCC,non_coding_transcript_exon_variant,,ENST00000617816,;DCDC2B,upstream_gene_variant,,ENST00000487056,;CCDC28B,downstream_gene_variant,,ENST00000469003,;CCDC28B,downstream_gene_variant,,ENST00000461819,;	T	ENST00000537469	Transcript	missense_variant	1067/2252	1056/1641	352/546	K/N	aaG/aaT		1		1	IQCC	HGNC	HGNC:25545	protein_coding	YES	CCDS53293.1	ENSP00000442291	Q4KMZ1		UPI0001A42065	NM_001160042.1	deleterious(0)		5/5		hmmpanther:PTHR16049																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	32207497	32207497	G	T	1	0	0	0	0	1	0	0	0	7708	1020	36	2		2	IQCC	1	32207497	Missense_Mutation	SNP	G	C3N-00293_TP	13008904	32207497	216748925	5	13179											
CDC20	0	.	GRCh38	chr1	43359798	43359798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caagatccttcggctcagtgGaaaaccacaaaatgcgccag	14	6	9	12	2	1	1	1	0	0	1	3	2	2	2	3	2	2	1	3	2	5	1	rs747181936		C3N-00293_TP	C3N-00293_NB	G	G																c.404G>A	p.Gly135Glu	p.G135E	ENST00000372462	3/10	218	203	15	165	165	0	varscan-mutect	CDC20,missense_variant,p.Gly135Glu,ENST00000372462,;CDC20,missense_variant,p.Gly135Glu,ENST00000310955,NM_001255.2;ELOVL1,downstream_gene_variant,,ENST00000621943,NM_001256399.1;ELOVL1,downstream_gene_variant,,ENST00000372458,NM_001256402.1,NM_022821.3;ELOVL1,downstream_gene_variant,,ENST00000413844,NM_001256401.1;ELOVL1,downstream_gene_variant,,ENST00000621166,;RP1-92O14.3,upstream_gene_variant,,ENST00000424948,;CDC20,non_coding_transcript_exon_variant,,ENST00000478882,;ELOVL1,downstream_gene_variant,,ENST00000470769,;ELOVL1,downstream_gene_variant,,ENST00000464204,;ELOVL1,downstream_gene_variant,,ENST00000482302,;ELOVL1,downstream_gene_variant,,ENST00000497050,;ELOVL1,downstream_gene_variant,,ENST00000470968,;ELOVL1,downstream_gene_variant,,ENST00000497569,;ELOVL1,downstream_gene_variant,,ENST00000487209,;ELOVL1,downstream_gene_variant,,ENST00000468865,;ELOVL1,downstream_gene_variant,,ENST00000496932,;ELOVL1,downstream_gene_variant,,ENST00000465321,;ELOVL1,downstream_gene_variant,,ENST00000479439,;ELOVL1,downstream_gene_variant,,ENST00000478481,;CDC20,upstream_gene_variant,,ENST00000482046,;ELOVL1,downstream_gene_variant,,ENST00000479686,;	A	ENST00000372462	Transcript	missense_variant	607/1777	404/1500	135/499	G/E	gGa/gAa	rs747181936	1		1	CDC20	HGNC	HGNC:1723	protein_coding	YES	CCDS484.1	ENSP00000361540	Q12834		UPI0000072C04		tolerated(0.49)		3/10		hmmpanther:PTHR19918,hmmpanther:PTHR19918:SF3																	MODERATE	1	SNV	1			1										PASS		rs747181936	.												A	3	1	45	43359798	43359798	G	A	1	0	0	0	0	1	0	0	0	2762	1174	41	3		3	CDC20	1	43359798	Missense_Mutation	SNP	G	C3N-00293_TP	11152301	43359798	205596624	6	13180											
CCDC17	0	.	GRCh38	chr1	45623439	45623439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatagccgcagccactgcaCctggaggtaacagcgatccg	10	5	13	13	3	0	0	0	0	0	0	1	3	1	2	4	3	5	3	4	3	2	2	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.271G>T	p.Val91Leu	p.V91L	ENST00000528266	3/13	240	210	30	174	174	0	strelka-varscan-mutect	CCDC17,missense_variant,p.Val91Leu,ENST00000528266,NM_001114938.2;CCDC17,intron_variant,,ENST00000421127,NM_001190182.1;CCDC17,intron_variant,,ENST00000445048,;GPBP1L1,downstream_gene_variant,,ENST00000355105,NM_021639.4;GPBP1L1,downstream_gene_variant,,ENST00000290795,;NASP,downstream_gene_variant,,ENST00000350030,NM_002482.3;NASP,downstream_gene_variant,,ENST00000537798,NM_001195193.1;GPBP1L1,downstream_gene_variant,,ENST00000479235,;GPBP1L1,downstream_gene_variant,,ENST00000467032,;GPBP1L1,downstream_gene_variant,,ENST00000487436,;CCDC17,upstream_gene_variant,,ENST00000464739,;CCDC17,missense_variant,p.Val59Leu,ENST00000479529,;CCDC17,non_coding_transcript_exon_variant,,ENST00000482416,;CCDC17,non_coding_transcript_exon_variant,,ENST00000491755,;CCDC17,non_coding_transcript_exon_variant,,ENST00000525599,;CCDC17,intron_variant,,ENST00000372044,;	A	ENST00000528266	Transcript	missense_variant,splice_region_variant	419/2181	271/1869	91/622	V/L	Gtg/Ttg		1		-1	CCDC17	HGNC	HGNC:26574	protein_coding	YES	CCDS44131.2	ENSP00000432172	Q96LX7		UPI0001AE78A9	NM_001114938.2	deleterious(0.02)		3/13		hmmpanther:PTHR33820																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	45	45623439	45623439	C	A	1	0	0	0	0	1	0	0	0	2486	521	18	2		2	CCDC17	1	45623439	Missense_Mutation	SNP	C	C3N-00293_TP	2263641	45623439	203332983	7	13181											
ZFYVE9	0	.	GRCh38	chr1	52238604	52238604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagagcatttctctgaatCtcaggacatgactaattgga	13	11	9	8	0	2	3	1	2	2	1	4	6	2	5	0	2	1	1	0	2	2	3			C3N-00293_TP	C3N-00293_NB	C	C																c.1187C>G	p.Ser396Cys	p.S396C	ENST00000287727	4/19	212	196	16	107	107	0	strelka-varscan-mutect	ZFYVE9,missense_variant,p.Ser396Cys,ENST00000287727,NM_004799.3;ZFYVE9,missense_variant,p.Ser396Cys,ENST00000371591,;ZFYVE9,missense_variant,p.Ser396Cys,ENST00000357206,NM_007324.3;ZFYVE9,non_coding_transcript_exon_variant,,ENST00000361625,;	G	ENST00000287727	Transcript	missense_variant	1639/5194	1187/4278	396/1425	S/C	tCt/tGt	COSM414865	1		1	ZFYVE9	HGNC	HGNC:6775	protein_coding	YES	CCDS563.1	ENSP00000287727	O95405		UPI0000001620	NM_004799.3	deleterious_low_confidence(0.04)		4/19													1						MODERATE	1	SNV	5		1	1										PASS		.	.												G	3	3	45	52238604	52238604	C	G	1	0	0	0	0	1	0	0	0	18248	913	32	4		4	ZFYVE9	1	52238604	Missense_Mutation	SNP	C	C3N-00293_TP	6615165	52238604	196717818	8	13182											
COL11A1	0	.	GRCh38	chr1	102946910	102946910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcccgggcgccctggtaaaCcaattgggccagctgtacct	7	8	12	14	2	0	0	0	0	0	0	1	0	1	0	5	3	3	3	5	3	4	3	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.3215G>A	p.Gly1072Asp	p.G1072D	ENST00000370096	42/67	385	351	34	289	289	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Gly1084Asp,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Gly1072Asp,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Gly1033Asp,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Gly956Asp,ENST00000512756,NM_080630.3;COL11A1,3_prime_UTR_variant,,ENST00000635193,;	T	ENST00000370096	Transcript	missense_variant	3528/7286	3215/5421	1072/1806	G/D	gGt/gAt		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0)		42/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	102946910	102946910	C	T	1	0	0	0	0	1	0	0	0	3455	507	18	3		3	COL11A1	1	102946910	Missense_Mutation	SNP	C	C3N-00293_TP	50708306	102946910	146009512	9	13183											
NTNG1	0	.	GRCh38	chr1	107324736	107324736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggttcgcgttttttgctgGacctcgcctacgcaatatgg	6	13	11	11	4	0	0	0	0	0	0	2	1	0	1	2	3	2	4	2	3	3	6			C3N-00293_TP	C3N-00293_NB	G	G																c.701G>T	p.Gly234Val	p.G234V	ENST00000370068	3/8	251	209	42	159	156	3	strelka-varscan-mutect	NTNG1,missense_variant,p.Gly234Val,ENST00000370067,;NTNG1,missense_variant,p.Gly234Val,ENST00000370068,;NTNG1,missense_variant,p.Gly234Val,ENST00000370073,NM_001113226.1;NTNG1,missense_variant,p.Gly234Val,ENST00000370071,NM_001113228.1;NTNG1,missense_variant,p.Gly234Val,ENST00000370074,NM_014917.2;NTNG1,missense_variant,p.Gly234Val,ENST00000370065,;NTNG1,missense_variant,p.Gly234Val,ENST00000370066,;NTNG1,non_coding_transcript_exon_variant,,ENST00000477948,;NTNG1,non_coding_transcript_exon_variant,,ENST00000294649,;	T	ENST00000370068	Transcript	missense_variant	1547/4034	701/1620	234/539	G/V	gGa/gTa	COSM1667762,COSM1667763,COSM1667764,COSM4217157	1		1	NTNG1	HGNC	HGNC:23319	protein_coding	YES	CCDS44180.1	ENSP00000359085	Q9Y2I2		UPI0000458A3E		deleterious(0)		3/8		PROSITE_profiles:PS51117,hmmpanther:PTHR10574:SF28,hmmpanther:PTHR10574,Pfam_domain:PF00055,SMART_domains:SM00136											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		.	.												T	3	4	45	107324736	107324736	G	T	1	0	0	0	0	1	0	0	0	10769	1174	41	2		2	NTNG1	1	107324736	Missense_Mutation	SNP	G	C3N-00293_TP	4377826	107324736	141631686	10	13184											
AMIGO1	0	.	GRCh38	chr1	109508159	109508159	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcttggagttcatgcagtAcagatcctcttgaaagtcca	10	13	8	10	0	3	2	1	1	2	1	5	3	5	3	2	1	2	3	2	1	2	5	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.754T>C	p.Tyr252His	p.Y252H	ENST00000369864	2/2	250	214	36	171	171	0	strelka-varscan-mutect	AMIGO1,missense_variant,p.Tyr252His,ENST00000369864,;AMIGO1,missense_variant,p.Tyr252His,ENST00000369862,NM_020703.2;	G	ENST00000369864	Transcript	missense_variant	1104/5088	754/1482	252/493	Y/H	Tac/Cac		1		-1	AMIGO1	HGNC	HGNC:20824	protein_coding	YES	CCDS30795.1	ENSP00000358880	Q86WK6		UPI0000035067		tolerated(0.5)		2/2		hmmpanther:PTHR24368,hmmpanther:PTHR24368:SF1,SMART_domains:SM00082,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	45	109508159	109508159	A	G	1	0	0	0	0	1	0	0	0	673	391	14	5		5	AMIGO1	1	109508159	Missense_Mutation	SNP	A	C3N-00293_TP	2183423	109508159	139448263	11	13185											
VANGL1	0	.	GRCh38	chr1	115659684	115659684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcaccccggaataaagacGgcagagggtcagaaaagtct	15	5	12	9	2	3	3	2	0	1	3	3	4	3	4	2	3	0	1	2	3	5	1	rs529034655		C3N-00293_TP	C3N-00293_NB	G	G																c.115G>T	p.Gly39Cys	p.G39C	ENST00000355485	3/8	489	433	56	409	409	0	strelka-varscan-mutect	VANGL1,missense_variant,p.Gly39Cys,ENST00000355485,NM_138959.2;VANGL1,missense_variant,p.Gly39Cys,ENST00000369510,NM_001172411.1;VANGL1,missense_variant,p.Gly39Cys,ENST00000310260,NM_001172412.1;VANGL1,missense_variant,p.Gly39Cys,ENST00000369509,;	T	ENST00000355485	Transcript	missense_variant	386/8691	115/1575	39/524	G/C	Ggc/Tgc	rs529034655	1		1	VANGL1	HGNC	HGNC:15512	protein_coding	YES	CCDS883.1	ENSP00000347672	Q8TAA9	A0A024R0E3	UPI0000070B72	NM_138959.2	deleterious(0.04)		3/8		Pfam_domain:PF06638,PIRSF_domain:PIRSF007991,hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF8																	MODERATE	1	SNV	1			1										PASS		rs529034655	.												T	3	4	45	115659684	115659684	G	T	1	0	0	0	0	1	0	0	0	17664	1116	39	1		1	VANGL1	1	115659684	Missense_Mutation	SNP	G	C3N-00293_TP	6151525	115659684	133296738	12	13186											
WDR3	0	.	GRCh38	chr1	117951980	117951980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttttatttctcataggatgGagcactcatagcaactggct	10	14	8	9	0	2	0	2	0	1	0	3	2	2	2	0	3	3	3	0	3	4	5	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1808G>C	p.Gly603Ala	p.G603A	ENST00000349139	17/27	119	112	7	73	73	0	strelka-mutect	WDR3,missense_variant,p.Gly603Ala,ENST00000349139,NM_006784.2;SPAG17,downstream_gene_variant,,ENST00000336338,NM_206996.2;SPAG17,downstream_gene_variant,,ENST00000478697,;SPAG17,downstream_gene_variant,,ENST00000469128,;SPAG17,downstream_gene_variant,,ENST00000466857,;	C	ENST00000349139	Transcript	missense_variant	1855/9974	1808/2832	603/943	G/A	gGa/gCa		1		1	WDR3	HGNC	HGNC:12755	protein_coding	YES	CCDS898.1	ENSP00000308179	Q9UNX4	Q5TDG3	UPI0000138EDC	NM_006784.2	deleterious(0.03)		17/27		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19853:SF0,hmmpanther:PTHR19853,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF117289																	MODERATE	1	SNV	1			1										PASS		rs1230363396	.												C	3	2	45	117951980	117951980	G	C	1	0	0	0	0	1	0	0	0	17845	1188	41	4		4	WDR3	1	117951980	Missense_Mutation	SNP	G	C3N-00293_TP	2292296	117951980	131004442	13	13187											
BCL9	0	.	GRCh38	chr1	147624526	147624526	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgggcgaacaagcccccaGaatgggactagcattacctg	12	6	12	11	1	0	1	0	0	0	1	0	4	0	2	3	2	4	1	3	2	5	2			C3N-00293_TP	C3N-00293_NB	G	G																c.3848G>C	p.Arg1283Thr	p.R1283T	ENST00000234739	10/10	282	267	15	173	173	0	strelka-varscan-mutect	BCL9,missense_variant,p.Arg1283Thr,ENST00000234739,NM_004326.3;	C	ENST00000234739	Transcript	missense_variant	4588/6278	3848/4281	1283/1426	R/T	aGa/aCa	COSM1294954	1		1	BCL9	HGNC	HGNC:1008	protein_coding	YES	CCDS30833.1	ENSP00000234739	O00512	A0A024QYY4	UPI000013C9B9	NM_004326.3	deleterious(0.04)		10/10		Low_complexity_(Seg):seg,hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	45	147624526	147624526	G	C	1	0	0	0	0	1	0	0	0	1528	942	33	4		4	BCL9	1	147624526	Missense_Mutation	SNP	G	C3N-00293_TP	29672546	147624526	101331896	14	13188											
ADAR	0	.	GRCh38	chr1	154602190	154602190	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtggtggccttcccttccCcaagctcttccaggaacttt	5	13	8	15	0	1	0	0	0	1	0	4	1	4	1	5	3	2	1	5	3	2	4	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.452G>C	p.Gly151Ala	p.G151A	ENST00000368474	2/15	191	181	10	96	96	0	strelka-varscan-mutect	ADAR,missense_variant,p.Gly151Ala,ENST00000368474,NM_001111.4,NM_015840.3,NM_015841.3;ADAR,missense_variant,p.Gly146Ala,ENST00000529168,;ADAR,5_prime_UTR_variant,,ENST00000368471,NM_001193495.1,NM_001025107.2;ADAR,non_coding_transcript_exon_variant,,ENST00000471068,;ADAR,non_coding_transcript_exon_variant,,ENST00000494866,;ADAR,downstream_gene_variant,,ENST00000526905,;ADAR,non_coding_transcript_exon_variant,,ENST00000463920,;	G	ENST00000368474	Transcript	missense_variant	652/6625	452/3681	151/1226	G/A	gGg/gCg		1		-1	ADAR	HGNC	HGNC:225	protein_coding	YES	CCDS1071.1	ENSP00000357459	P55265		UPI000045626B	NM_001111.4,NM_015840.3,NM_015841.3	tolerated(0.07)		2/15		PROSITE_profiles:PS50139,Gene3D:1.10.10.10,Pfam_domain:PF02295,SMART_domains:SM00550,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	45	154602190	154602190	C	G	1	0	0	0	0	1	0	0	0	325	623	22	4		4	ADAR	1	154602190	Missense_Mutation	SNP	C	C3N-00293_TP	6977664	154602190	94354232	15	13189											
MUC1	0	.	GRCh38	chr1	155192305	155192305	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcgggtttaggggctgTggtagctgtaagaagttaaa	9	13	16	3	1	0	1	0	0	0	1	0	1	0	1	0	4	2	7	0	4	6	6	rs758495827		C3N-00293_TP	C3N-00293_NB	T	T																c.64A>G	p.Thr22Ala	p.T22A	ENST00000612778	2/8	420	384	36	230	230	0	strelka-varscan-mutect	MUC1,missense_variant,p.Thr22Ala,ENST00000612778,NM_001204286.1;MUC1,missense_variant,p.Thr22Ala,ENST00000462215,;MUC1,missense_variant,p.Thr22Ala,ENST00000457295,;MUC1,missense_variant,p.Thr22Ala,ENST00000338684,NM_001204289.1,NM_001204291.1;MUC1,missense_variant,p.Thr22Ala,ENST00000610359,NM_001204292.1;MUC1,missense_variant,p.Thr22Ala,ENST00000614519,;MUC1,missense_variant,p.Thr22Ala,ENST00000368392,NM_001018016.2,NM_001204288.1;MUC1,missense_variant,p.Thr22Ala,ENST00000615517,NM_001204295.1;MUC1,missense_variant,p.Thr22Ala,ENST00000342482,;MUC1,missense_variant,p.Thr22Ala,ENST00000368396,NM_001044392.2,NM_001044391.2;MUC1,intron_variant,,ENST00000611571,;MUC1,intron_variant,,ENST00000620103,NM_001204285.1;MUC1,intron_variant,,ENST00000611577,;MUC1,intron_variant,,ENST00000368393,NM_001204293.1;MUC1,intron_variant,,ENST00000438413,NM_001204290.1;MUC1,intron_variant,,ENST00000337604,NM_001204287.1,NM_002456.5;MUC1,intron_variant,,ENST00000368390,NM_001018017.2;MUC1,intron_variant,,ENST00000368398,NM_001204294.1;MUC1,intron_variant,,ENST00000343256,NM_001044390.2,NM_001204296.1;MUC1,intron_variant,,ENST00000471283,NM_001044393.2;MUC1,intron_variant,,ENST00000368389,NM_001204297.1;THBS3,downstream_gene_variant,,ENST00000541576,NM_001252607.1;THBS3,downstream_gene_variant,,ENST00000368378,NM_007112.4;THBS3,downstream_gene_variant,,ENST00000541990,;THBS3,downstream_gene_variant,,ENST00000457183,NM_001252608.1;MUC1,upstream_gene_variant,,ENST00000462317,;MUC1,upstream_gene_variant,,ENST00000485118,;AC234582.2,downstream_gene_variant,,ENST00000623940,;AC234582.1,downstream_gene_variant,,ENST00000624572,;MIR92B,upstream_gene_variant,,ENST00000607575,;MIR92B,upstream_gene_variant,,ENST00000447623,;MUC1,intron_variant,,ENST00000466913,;MUC1,missense_variant,p.Thr22Ala,ENST00000467134,;MUC1,non_coding_transcript_exon_variant,,ENST00000620770,;MUC1,intron_variant,,ENST00000610468,;MUC1,intron_variant,,ENST00000498431,;MUC1,upstream_gene_variant,,ENST00000468978,;THBS3,downstream_gene_variant,,ENST00000469769,;THBS3,downstream_gene_variant,,ENST00000498500,;	C	ENST00000612778	Transcript	missense_variant	136/1836	64/1455	22/484	T/A	Aca/Gca	rs758495827	1		-1	MUC1	HGNC	HGNC:7508	protein_coding	YES	CCDS72933.1	ENSP00000484824		A0A087X2A4	UPI000059C524	NM_001204286.1	tolerated_low_confidence(0.2)		2/8		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE		SNV	5			1										PASS		rs758495827	.												C	3	2	45	155192305	155192305	T	C	1	0	0	0	0	1	0	0	0	9968	1710	59	5		5	MUC1	1	155192305	Missense_Mutation	SNP	T	C3N-00293_TP	590115	155192305	93764117	16	13190											
MNDA	0	.	GRCh38	chr1	158845605	158845605	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatcaggaaacccaggccCaacggcaggtggatgcaaga	15	3	13	10	1	1	2	1	0	0	2	1	4	1	4	2	5	3	2	2	5	4	0			C3N-00293_TP	C3N-00293_NB	C	C																c.589C>T	p.Gln197Ter	p.Q197*	ENST00000368141	5/7	114	104	10	73	73	0	strelka-varscan-mutect	MNDA,stop_gained,p.Gln197Ter,ENST00000368141,NM_002432.1;MNDA,upstream_gene_variant,,ENST00000438394,;MNDA,downstream_gene_variant,,ENST00000491210,;	T	ENST00000368141	Transcript	stop_gained	850/1752	589/1224	197/407	Q/*	Caa/Taa	COSM312906	1		1	MNDA	HGNC	HGNC:7183	protein_coding	YES	CCDS1177.1	ENSP00000357123	P41218	Q5VUU6	UPI0000001609	NM_002432.1			5/7		Gene3D:2.40.50.140,PROSITE_profiles:PS50834,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF18											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	45	158845605	158845605	C	T	1	0	0	0	0	0	1	0	0	9640	595	21	3		3	MNDA	1	158845605	Nonsense_Mutation	SNP	C	C3N-00293_TP	3653300	158845605	90110817	17	13191											
RGS5	0	.	GRCh38	chr1	163147465	163147465	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggaaggttccaccaggttCttcattgtgatgtccttagt	8	14	11	8	0	2	1	1	1	1	0	4	2	4	2	3	3	0	2	3	3	2	5	rs148613695		C3N-00293_TP	C3N-00293_NB	C	C																c.435G>A	p.=	p.K145K	ENST00000530507	5/5	133	126	7	90	90	0	strelka-mutect	RGS5,synonymous_variant,p.=,ENST00000313961,NM_003617.3;RGS5,synonymous_variant,p.=,ENST00000618415,NM_001254748.1;RGS5,synonymous_variant,p.=,ENST00000367903,;RGS5,synonymous_variant,p.=,ENST00000530507,NM_001254749.1;RGS5,synonymous_variant,p.=,ENST00000527988,NM_001195303.2;RGS5,intron_variant,,ENST00000469495,;RGS5,downstream_gene_variant,,ENST00000531954,;	T	ENST00000530507	Transcript	synonymous_variant	503/851	435/558	145/185	K	aaG/aaA	rs148613695,COSM3477502	1		-1	RGS5	HGNC	HGNC:10001	protein_coding	YES	CCDS58041.1	ENSP00000433001	O15539		UPI0001F78466	NM_001254749.1			5/5		Gene3D:1.10.167.10,Pfam_domain:PF00615,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF42,SMART_domains:SM00315,Superfamily_domains:SSF48097											0,1						LOW	1	SNV	3		0,1	1										PASS		rs148613695	.												T	2	4	45	163147465	163147465	C	T	1	0	0	0	0	0	0	0	1	13479	912	32	3		3	RGS5	1	163147465	Silent	SNP	C	C3N-00293_TP	4301860	163147465	85808957	18	13192											
NME7	0	.	GRCh38	chr1	169324431	169324431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgggtaaaataaaagctCataacgtcgaagaagtgaag	17	7	10	7	2	1	2	1	1	0	1	2	3	1	2	1	1	2	2	1	1	8	3	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.73G>C	p.Glu25Gln	p.E25Q	ENST00000367811	2/12	229	216	13	79	79	0	strelka-varscan-mutect	NME7,missense_variant,p.Glu25Gln,ENST00000367811,NM_013330.4;NME7,5_prime_UTR_variant,,ENST00000472647,NM_197972.2;RP4-800F24.1,downstream_gene_variant,,ENST00000432081,;NME7,non_coding_transcript_exon_variant,,ENST00000469474,;NME7,non_coding_transcript_exon_variant,,ENST00000491225,;NME7,non_coding_transcript_exon_variant,,ENST00000485609,;NME7,intron_variant,,ENST00000480478,;NME7,missense_variant,p.Glu25Gln,ENST00000525440,;NME7,missense_variant,p.Glu25Gln,ENST00000528517,;NME7,non_coding_transcript_exon_variant,,ENST00000524967,;NME7,non_coding_transcript_exon_variant,,ENST00000527460,;	G	ENST00000367811	Transcript	missense_variant	330/1642	73/1131	25/376	E/Q	Gag/Cag		1		-1	NME7	HGNC	HGNC:20461	protein_coding	YES	CCDS1277.1	ENSP00000356785	Q9Y5B8		UPI000012FE8C	NM_013330.4	tolerated(1)		2/12		PIRSF_domain:PIRSF036503,PROSITE_profiles:PS51336,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF32,SMART_domains:SM00676																	MODERATE	1	SNV	1			1										PASS		rs1436937162	.												G	3	3	45	169324431	169324431	C	G	1	0	0	0	0	1	0	0	0	10533	835	29	4		4	NME7	1	169324431	Missense_Mutation	SNP	C	C3N-00293_TP	6176966	169324431	79631991	19	13193											
KLHL20	0	.	GRCh38	chr1	173757138	173757138	+	Missense_Mutation	SNP	C	C	A																															aggaggccatgatggatcctCttatctcaatagtgttgaaa																								novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1130C>A	p.Ser377Tyr	p.S377Y	ENST00000209884	7/12	148	140	8	86	86	0	strelka-varscan-mutect	KLHL20,missense_variant,p.Ser377Tyr,ENST00000209884,NM_014458.3;	A	ENST00000209884	Transcript	missense_variant	1266/3421	1130/1830	377/609	S/Y	tCt/tAt		1		1	KLHL20	HGNC	HGNC:25056	protein_coding	YES	CCDS1310.1	ENSP00000209884	Q9Y2M5	A0A024R940	UPI0000227E1A	NM_014458.3	deleterious(0.03)		7/12		hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF138,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,Pfam_domain:PF01344,SMART_domains:SM00612,Superfamily_domains:0052715,Prints_domain:PR00501																	MODERATE	1	SNV	1			1										PASS		rs1380820717	.												A	3	1	45	173757138	173757138	C	A	1	0	0	0	0	1	0	0	0	8239	913	32	2		2	KLHL20	1	173757138	Missense_Mutation	SNP	C	C3N-00293_TP	4432707	173757138	75199284	20	13194	304	2									
KLHL20	0	.	GRCh38	chr1	173757145	173757145	+	Silent	SNP	C	C	T																															catgatggatcctcttatctCaatagtgttgaaaggtgagt																								novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1137C>T	p.=	p.L379L	ENST00000209884	7/12	143	135	8	81	81	0	strelka-varscan-mutect	KLHL20,synonymous_variant,p.=,ENST00000209884,NM_014458.3;	T	ENST00000209884	Transcript	synonymous_variant	1273/3421	1137/1830	379/609	L	ctC/ctT		1		1	KLHL20	HGNC	HGNC:25056	protein_coding	YES	CCDS1310.1	ENSP00000209884	Q9Y2M5	A0A024R940	UPI0000227E1A	NM_014458.3			7/12		hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF138,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,Pfam_domain:PF01344,SMART_domains:SM00612,Superfamily_domains:0052715																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	45	173757145	173757145	C	T	1	0	0	0	0	0	0	0	1	8239	813	29	3		3	KLHL20	1	173757145	Silent	SNP	C	C3N-00293_TP	7	173757145	75199277	21	13195	304	2									
TNN	0	.	GRCh38	chr1	175118770	175118770	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtacacggtgcacgtgTgggcccagaaggggaaccag	10	5	17	9	2	0	1	0	0	0	1	0	3	0	3	2	5	3	2	2	5	3	1	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.2596T>A	p.Trp866Arg	p.W866R	ENST00000239462	11/19	458	435	23	323	323	0	strelka-mutect	TNN,missense_variant,p.Trp866Arg,ENST00000239462,NM_022093.1;TNN,missense_variant,p.Trp689Arg,ENST00000621086,;TNN,missense_variant,p.Trp689Arg,ENST00000622870,;	A	ENST00000239462	Transcript	missense_variant	2709/5008	2596/3900	866/1299	W/R	Tgg/Agg		1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1	deleterious(0.01)		11/19		PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF252,hmmpanther:PTHR19143,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	45	175118770	175118770	T	A	1	0	0	0	0	1	0	0	0	16796	1696	59	4		4	TNN	1	175118770	Missense_Mutation	SNP	T	C3N-00293_TP	1361625	175118770	73837652	22	13196											
TNR	0	.	GRCh38	chr1	175367256	175367256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgctgtgagttcatgaCggcagatattccaactccat	9	13	9	10	1	1	3	1	2	0	1	3	3	3	3	2	1	2	4	2	1	2	4	rs145227551		C3N-00293_TP	C3N-00293_NB	C	C																c.2005G>A	p.Val669Ile	p.V669I	ENST00000367674	10/23	383	349	34	290	290	0	strelka-varscan-mutect	TNR,missense_variant,p.Val669Ile,ENST00000367674,;TNR,missense_variant,p.Val669Ile,ENST00000263525,NM_003285.2;	T	ENST00000367674	Transcript	missense_variant	2714/12949	2005/4077	669/1358	V/I	Gtc/Atc	rs145227551	1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C		tolerated(0.46)		10/23		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		rs145227551	.												T	3	4	45	175367256	175367256	C	T	1	0	0	0	0	1	0	0	0	16811	536	19	1		1	TNR	1	175367256	Missense_Mutation	SNP	C	C3N-00293_TP	248486	175367256	73589166	23	13197											
KIAA1614	0	.	GRCh38	chr1	180935546	180935546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagctgcatcgacgaccCgcgccccgcccaggggaagg	7	2	15	17	6	0	0	0	0	0	0	1	3	0	1	4	4	2	3	4	4	1	0	rs761148715		C3N-00293_TP	C3N-00293_NB	C	C																c.1637C>A	p.Pro546Gln	p.P546Q	ENST00000367588	5/9	80	46	34	58	58	0	strelka-varscan-mutect	KIAA1614,missense_variant,p.Pro546Gln,ENST00000367588,NM_020950.1;KIAA1614,missense_variant,p.Pro167Gln,ENST00000367587,;KIAA1614,intron_variant,,ENST00000483705,;	A	ENST00000367588	Transcript	missense_variant	1692/9654	1637/3573	546/1190	P/Q	cCg/cAg	rs761148715	1		1	KIAA1614	HGNC	HGNC:29327	protein_coding	YES	CCDS41442.1	ENSP00000356560	Q5VZ46		UPI00001C1D75	NM_020950.1	tolerated(0.7)		5/9		hmmpanther:PTHR17130,hmmpanther:PTHR17130:SF21																	MODERATE	1	SNV	1			1										PASS		rs761148715	.												A	3	1	45	180935546	180935546	C	A	1	0	0	0	0	1	0	0	0	8124	652	23	1		1	KIAA1614	1	180935546	Missense_Mutation	SNP	C	C3N-00293_TP	5568290	180935546	68020876	24	13198											
PRG4	0	.	GRCh38	chr1	186307711	186307711	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccacccctgaggagccTgctcccaccactcccaaggc	8	4	7	22	0	0	1	0	1	0	0	2	2	2	2	8	2	2	1	8	2	1	0	rs115596185		C3N-00293_TP	C3N-00293_NB	T	T																c.1992T>C	p.=	p.P664P	ENST00000445192	7/13	288	270	18	190	188	2	strelka-mutect	PRG4,synonymous_variant,p.=,ENST00000445192,NM_005807.4;PRG4,synonymous_variant,p.=,ENST00000367483,NM_001127708.2;PRG4,synonymous_variant,p.=,ENST00000635041,NM_001303232.1;PRG4,synonymous_variant,p.=,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,synonymous_variant,p.=,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	C	ENST00000445192	Transcript	synonymous_variant	2037/5044	1992/4215	664/1404	P	ccT/ccC	rs115596185,COSM3849351	1		1	PRG4	HGNC	HGNC:9364	protein_coding	YES	CCDS1369.1	ENSP00000399679	Q92954		UPI0004620CBB	NM_005807.4			7/13		Low_complexity_(Seg):seg,hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1											0,1						LOW		SNV	5		0,1	1										PASS		rs115596185	.												C	2	2	45	186307711	186307711	T	C	1	0	0	0	0	0	0	0	1	12615	1567	55	5		5	PRG4	1	186307711	Silent	SNP	T	C3N-00293_TP	5372165	186307711	62648711	25	13199											
ASPM	0	.	GRCh38	chr1	197102159	197102159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgcttggtattgctgttgGatcacaacggaggcctgttt	6	16	12	7	1	1	0	1	0	0	0	1	2	1	2	1	4	3	5	1	4	2	6			C3N-00293_TP	C3N-00293_NB	G	G																c.7092C>T	p.=	p.I2364I	ENST00000367409	18/28	326	293	33	134	134	0	strelka-varscan-mutect	ASPM,synonymous_variant,p.=,ENST00000367409,NM_018136.4;ASPM,synonymous_variant,p.=,ENST00000612785,;ASPM,intron_variant,,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000367408,;	A	ENST00000367409	Transcript	synonymous_variant	7349/10887	7092/10434	2364/3477	I	atC/atT	COSM5172618	1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4			18/28													1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	45	197102159	197102159	G	A	1	0	0	0	0	0	0	0	1	1203	1164	41	3		3	ASPM	1	197102159	Silent	SNP	G	C3N-00293_TP	10794448	197102159	51854263	26	13200											
ASPM	0	.	GRCh38	chr1	197104088	197104088	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgcatatactcttctctCttttgtgcagctattttttt	6	22	4	9	0	4	0	0	0	4	0	5	0	4	0	0	0	4	3	0	0	3	9	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.5163G>C	p.Lys1721Asn	p.K1721N	ENST00000367409	18/28	424	389	35	168	168	0	strelka-varscan-mutect	ASPM,missense_variant,p.Lys1721Asn,ENST00000367409,NM_018136.4;ASPM,intron_variant,,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000612785,;ASPM,intron_variant,,ENST00000367408,;	G	ENST00000367409	Transcript	missense_variant	5420/10887	5163/10434	1721/3477	K/N	aaG/aaC		1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4	tolerated(0.42)		18/28		Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1410074335	.												G	3	3	45	197104088	197104088	C	G	1	0	0	0	0	1	0	0	0	1203	912	32	4		4	ASPM	1	197104088	Missense_Mutation	SNP	C	C3N-00293_TP	1929	197104088	51852334	27	13201											
PIGR	0	.	GRCh38	chr1	206934570	206934570	+	Missense_Mutation	SNP	T	T	G																															ccggctgttctcgtcacagtTcacgaaggccttgctggggc																								novel		C3N-00293_TP	C3N-00293_NB	T	T																c.1555A>C	p.Asn519His	p.N519H	ENST00000356495	6/11	586	538	48	405	405	0	strelka-varscan-mutect	PIGR,missense_variant,p.Asn519His,ENST00000356495,NM_002644.3;PIGR,upstream_gene_variant,,ENST00000487208,;PIGR,downstream_gene_variant,,ENST00000491503,;	G	ENST00000356495	Transcript	missense_variant	1739/4279	1555/2295	519/764	N/H	Aac/Cac		1		-1	PIGR	HGNC	HGNC:8968	protein_coding	YES	CCDS1474.1	ENSP00000348888	P01833		UPI000007407E	NM_002644.3	deleterious(0.02)		6/11		PROSITE_profiles:PS50835,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	45	206934570	206934570	T	G	1	0	0	0	0	1	0	0	0	11991	1783	62	5		5	PIGR	1	206934570	Missense_Mutation	SNP	T	C3N-00293_TP	9830482	206934570	42021852	28	13202	305	2									
PIGR	0	.	GRCh38	chr1	206934571	206934571	+	Silent	SNP	C	C	A																															cggctgttctcgtcacagttCacgaaggccttgctggggcc																								novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1554G>T	p.=	p.V518V	ENST00000356495	6/11	584	536	48	404	403	1	strelka-varscan-mutect	PIGR,synonymous_variant,p.=,ENST00000356495,NM_002644.3;PIGR,upstream_gene_variant,,ENST00000487208,;PIGR,downstream_gene_variant,,ENST00000491503,;	A	ENST00000356495	Transcript	synonymous_variant	1738/4279	1554/2295	518/764	V	gtG/gtT		1		-1	PIGR	HGNC	HGNC:8968	protein_coding	YES	CCDS1474.1	ENSP00000348888	P01833		UPI000007407E	NM_002644.3			6/11		PROSITE_profiles:PS50835,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	45	206934571	206934571	C	A	1	0	0	0	0	0	0	0	1	11991	813	29	2		2	PIGR	1	206934571	Silent	SNP	C	C3N-00293_TP	1	206934571	42021851	29	13203	305	2									
PPP2R5A	0	.	GRCh38	chr1	212360765	212360765	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagcaatacaagtgccGaataaaaaaaaagcctccca	18	7	5	11	1	1	0	1	0	1	0	3	1	2	0	3	0	4	1	3	0	9	3	rs752977429		C3N-00293_TP	C3N-00293_NB	G	G																c.1456G>T	p.Glu486Ter	p.E486*	ENST00000261461	13/13	114	108	6	48	48	0	strelka-mutect	PPP2R5A,stop_gained,p.Glu486Ter,ENST00000261461,NM_006243.3;PPP2R5A,stop_gained,p.Glu429Ter,ENST00000537030,NM_001199756.1;TMEM206,downstream_gene_variant,,ENST00000261455,NM_018252.2;TMEM206,downstream_gene_variant,,ENST00000535273,NM_001198862.1;RP11-384C4.2,downstream_gene_variant,,ENST00000447949,;	T	ENST00000261461	Transcript	stop_gained	2030/3128	1456/1461	486/486	E/*	Gaa/Taa	rs752977429	1		1	PPP2R5A	HGNC	HGNC:9309	protein_coding	YES	CCDS1503.1	ENSP00000261461	Q15172		UPI0000124E90	NM_006243.3			13/13		Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF028043																	HIGH	1	SNV	1			1										PASS		rs752977429	.												T	4	4	45	212360765	212360765	G	T	1	0	0	0	0	0	1	0	0	12514	1059	37	1		1	PPP2R5A	1	212360765	Nonsense_Mutation	SNP	G	C3N-00293_TP	5426194	212360765	36595657	30	13204											
USH2A	0	.	GRCh38	chr1	216073153	216073153	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttttccctggtaaaccAggatggagtcatttcccctg	7	13	9	12	0	2	0	1	0	1	0	4	2	4	2	4	3	1	2	4	3	2	4	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.5720T>A	p.Leu1907Gln	p.L1907Q	ENST00000307340	28/72	687	649	38	420	420	0	strelka-varscan-mutect	USH2A,missense_variant,p.Leu1907Gln,ENST00000307340,NM_206933.2;RP11-22M7.2,intron_variant,,ENST00000446411,;RP11-22M7.2,intron_variant,,ENST00000430890,;RP11-22M7.2,intron_variant,,ENST00000445619,;	T	ENST00000307340	Transcript	missense_variant	6107/18883	5720/15609	1907/5202	L/Q	cTg/cAg		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		28/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs1473468405	.												T	3	4	45	216073153	216073153	A	T	1	0	0	0	0	1	0	0	0	17570	188	7	4		4	USH2A	1	216073153	Missense_Mutation	SNP	A	C3N-00293_TP	3712388	216073153	32883269	31	13205											
ESRRG	0	.	GRCh38	chr1	216568092	216568092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacgtactctgtcaagaCgcacccctgtgagcaaagac	11	7	8	15	2	2	3	1	1	1	2	3	3	3	3	3	0	2	3	3	0	3	1			C3N-00293_TP	C3N-00293_NB	C	C																c.611G>A	p.Arg204His	p.R204H	ENST00000366937	5/8	323	289	34	243	243	0	strelka-varscan-mutect	ESRRG,missense_variant,p.Arg176His,ENST00000391890,NM_001243515.1,NM_001243519.1;ESRRG,missense_variant,p.Arg176His,ENST00000360012,NM_001243514.1;ESRRG,missense_variant,p.Arg204His,ENST00000366937,NM_001243518.1;ESRRG,missense_variant,p.Arg176His,ENST00000361525,NM_206594.2;ESRRG,missense_variant,p.Arg176His,ENST00000366940,NM_001134285.2,NM_001243511.2;ESRRG,missense_variant,p.Arg176His,ENST00000493603,NM_001243510.2;ESRRG,missense_variant,p.Arg176His,ENST00000366938,NM_001243513.1;ESRRG,missense_variant,p.Arg176His,ENST00000361395,;ESRRG,missense_variant,p.Arg199His,ENST00000408911,NM_001438.3;ESRRG,missense_variant,p.Arg176His,ENST00000359162,NM_206595.2,NM_001243506.1;ESRRG,missense_variant,p.Arg176His,ENST00000616180,;ESRRG,missense_variant,p.Arg137His,ENST00000463665,NM_001243507.1;ESRRG,missense_variant,p.Arg176His,ENST00000487276,NM_001243512.1;ESRRG,missense_variant,p.Arg176His,ENST00000493748,NM_001243509.1;ESRRG,missense_variant,p.Arg176His,ENST00000475275,;ESRRG,3_prime_UTR_variant,,ENST00000586199,;	T	ENST00000366937	Transcript	missense_variant	878/5365	611/1413	204/470	R/H	cGt/cAt	COSM1958540,COSM3943469	1		-1	ESRRG	HGNC	HGNC:3474	protein_coding	YES	CCDS58061.1	ENSP00000355904	P62508		UPI0000D4BFAB	NM_001243518.1	deleterious(0.03)		5/8		PROSITE_profiles:PS51030,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF21,PIRSF_domain:PIRSF500939,Gene3D:1.10.565.10,PIRSF_domain:PIRSF002527,Superfamily_domains:SSF57716,Superfamily_domains:SSF48508,Prints_domain:PR01292,Prints_domain:PR00398											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	45	216568092	216568092	C	T	1	0	0	0	0	1	0	0	0	5124	536	19	1		1	ESRRG	1	216568092	Missense_Mutation	SNP	C	C3N-00293_TP	494939	216568092	32388330	32	13206											
NVL	0	.	GRCh38	chr1	224275380	224275380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acataaagcatccacttcatCaaagaatatcacacagggtg	17	8	6	10	0	3	1	3	0	0	1	4	1	4	1	1	1	1	1	1	1	5	3	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.2041G>A	p.Asp681Asn	p.D681N	ENST00000281701	17/23	296	276	20	197	197	0	strelka-varscan-mutect	NVL,missense_variant,p.Asp681Asn,ENST00000281701,NM_002533.3;NVL,missense_variant,p.Asp492Asn,ENST00000482491,;NVL,missense_variant,p.Asp575Asn,ENST00000391875,NM_206840.2;NVL,missense_variant,p.Asp590Asn,ENST00000469075,NM_001243147.1;NVL,missense_variant,p.Asp484Asn,ENST00000469968,;NVL,missense_variant,p.Asp492Asn,ENST00000340871,NM_001243146.1;	T	ENST00000281701	Transcript	missense_variant	2301/3123	2041/2571	681/856	D/N	Gat/Aat		1		-1	NVL	HGNC	HGNC:8070	protein_coding	YES	CCDS1541.1	ENSP00000281701	O15381		UPI0000073F3E	NM_002533.3	deleterious(0)		17/23		hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF55,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	224275380	224275380	C	T	1	0	0	0	0	1	0	0	0	10853	826	29	3		3	NVL	1	224275380	Missense_Mutation	SNP	C	C3N-00293_TP	7707288	224275380	24681042	33	13207											
RYR2	0	.	GRCh38	chr1	237614590	237614590	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattcctctttgtacctcTcatcaagcttttctataccc	8	17	3	13	0	4	1	2	1	3	0	6	1	5	1	3	0	3	2	3	0	5	7	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.5462T>A	p.Leu1821His	p.L1821H	ENST00000366574	37/105	640	528	112	410	410	0	strelka-varscan-mutect	RYR2,missense_variant,p.Leu1821His,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Leu1805His,ENST00000360064,;	A	ENST00000366574	Transcript	missense_variant	5779/16562	5462/14904	1821/4967	L/H	cTc/cAc		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		37/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	237614590	237614590	T	A	1	0	0	0	0	1	0	0	0	14029	1551	54	4		4	RYR2	1	237614590	Missense_Mutation	SNP	T	C3N-00293_TP	13339210	237614590	11341832	34	13208											
ZP4	0	.	GRCh38	chr1	237890066	237890066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catactcacccactcagtgaCatagcagctgctataggttg	11	10	8	12	0	2	1	2	1	0	0	2	1	2	1	1	1	4	4	1	1	4	5	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.286G>T	p.Val96Phe	p.V96F	ENST00000611898	2/13	410	338	72	245	245	0	strelka-varscan-mutect	ZP4,missense_variant,p.Val96Phe,ENST00000611898,NM_021186.3;ZP4,missense_variant,p.Val96Phe,ENST00000366570,;RP11-193H5.1,intron_variant,,ENST00000450451,;	A	ENST00000611898	Transcript	missense_variant	573/2474	286/1623	96/540	V/F	Gtc/Ttc		1		-1	ZP4	HGNC	HGNC:15770	protein_coding	YES	CCDS1615.1	ENSP00000482304	Q12836		UPI000006F0E4	NM_021186.3	deleterious(0.03)		2/13		hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	45	237890066	237890066	C	A	1	0	0	0	0	1	0	0	0	18810	478	17	2		2	ZP4	1	237890066	Missense_Mutation	SNP	C	C3N-00293_TP	275476	237890066	11066356	35	13209											
OR14K1	0	.	GRCh38	chr1	247739128	247739128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttatggctctgatgagCtacatcagttcttctgcgat	8	17	8	8	1	4	2	1	2	3	0	4	3	4	2	0	1	3	3	0	1	2	6	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.514C>A	p.Leu172Ile	p.L172I	ENST00000283225	1/1	609	570	39	302	302	0	strelka-varscan-mutect	OR14K1,missense_variant,p.Leu172Ile,ENST00000283225,;RP11-634B7.4,intron_variant,,ENST00000449298,;	A	ENST00000283225	Transcript	missense_variant	514/945	514/945	172/314	L/I	Cta/Ata		1		1	OR14K1	HGNC	HGNC:15025	protein_coding	YES		ENSP00000283225	Q8NGZ2		UPI0000041CBA		tolerated(0.78)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												A	3	1	45	247739128	247739128	C	A	1	0	0	0	0	1	0	0	0	11026	796	28	2		2	OR14K1	1	247739128	Missense_Mutation	SNP	C	C3N-00293_TP	9849062	247739128	1217294	36	13210											
OR14A16	0	.	GRCh38	chr1	247814821	247814821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttttggtgagctttccCtttatcaacatccccagagc	8	15	6	12	0	1	2	1	1	0	1	3	2	3	2	3	1	4	1	3	1	3	6			C3N-00293_TP	C3N-00293_NB	C	C																c.909G>A	p.=	p.K303K	ENST00000357627	1/1	95	88	7	39	39	0	strelka-mutect	OR14A16,synonymous_variant,p.=,ENST00000357627,NM_001001966.1;	T	ENST00000357627	Transcript	synonymous_variant	909/930	909/930	303/309	K	aaG/aaA	COSM680618	1		-1	OR14A16	HGNC	HGNC:15022	protein_coding	YES	CCDS31097.1	ENSP00000350248	Q8NHC5		UPI0000041CE2	NM_001001966.1			1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF352,Superfamily_domains:SSF81321											1						LOW	1	SNV			1	1										PASS		rs995142044	.												T	2	4	45	247814821	247814821	C	T	1	0	0	0	0	0	0	0	1	11021	680	24	3		3	OR14A16	1	247814821	Silent	SNP	C	C3N-00293_TP	75693	247814821	1141601	37	13211											
OR2T1	0	.	GRCh38	chr1	248406535	248406535	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatttgcaaccctctgAgataccctgtcctcatgagc	8	11	8	14	0	2	2	1	2	1	1	3	3	3	2	4	1	4	1	4	1	2	2	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.541A>T	p.Arg181Ter	p.R181*	ENST00000366474	1/1	295	239	56	182	181	1	strelka-varscan-mutect	OR2T1,stop_gained,p.Arg181Ter,ENST00000366474,NM_030904.1;	T	ENST00000366474	Transcript	stop_gained	541/1110	541/1110	181/369	R/*	Aga/Tga		1		1	OR2T1	HGNC	HGNC:8277	protein_coding	YES	CCDS31115.1	ENSP00000355430	O43869	A0A126GVY3	UPI00003B2872	NM_030904.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF125,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	HIGH	1	SNV				1										PASS		rs1159474130	.												T	4	4	45	248406535	248406535	A	T	1	0	0	0	0	0	1	0	0	11094	296	11	4		4	OR2T1	1	248406535	Nonsense_Mutation	SNP	A	C3N-00293_TP	591714	248406535	549887	38	13212											
OR2T27	0	.	GRCh38	chr1	248650177	248650177	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcaggtggccacagcCtttcccctcccctctgcctc	5	8	10	18	0	1	0	0	0	1	0	4	2	3	1	7	3	3	1	7	3	0	1	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.708G>A	p.=	p.K236K	ENST00000344889	1/1	368	346	22	185	185	0	varscan-mutect	OR2T27,synonymous_variant,p.=,ENST00000344889,NM_001001824.1;	T	ENST00000344889	Transcript	synonymous_variant	708/954	708/954	236/317	K	aaG/aaA		1		-1	OR2T27	HGNC	HGNC:31252	protein_coding	YES	CCDS31124.1	ENSP00000342008	Q8NH04		UPI000004F239	NM_001001824.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF78,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	LOW	1	SNV				1										PASS		.	.												T	2	4	45	248650177	248650177	C	T	1	0	0	0	0	0	0	0	1	11098	680	24	3		3	OR2T27	1	248650177	Silent	SNP	C	C3N-00293_TP	243642	248650177	306245	39	13213											
CMPK2	0	.	GRCh38	chr2	6865226	6865226	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcgcccaagtgcgggcgTggtgcctcctgacaggcgcc	6	6	14	15	4	0	1	0	1	0	0	2	1	1	1	4	3	3	0	4	3	2	0	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.471A>T	p.=	p.P157P	ENST00000256722	1/5	196	184	12	175	175	0	strelka-varscan-mutect	CMPK2,synonymous_variant,p.=,ENST00000256722,NM_207315.3;CMPK2,synonymous_variant,p.=,ENST00000404168,NM_001256477.1;CMPK2,synonymous_variant,p.=,ENST00000458098,NM_001256478.1;RSAD2,upstream_gene_variant,,ENST00000442639,;CMPK2,intron_variant,,ENST00000478738,;CMPK2,intron_variant,,ENST00000465619,;CMPK2,intron_variant,,ENST00000470479,;RSAD2,upstream_gene_variant,,ENST00000474872,;CMPK2,upstream_gene_variant,,ENST00000491738,;	A	ENST00000256722	Transcript	synonymous_variant	471/2884	471/1350	157/449	P	ccA/ccT		1		-1	CMPK2	HGNC	HGNC:27015	protein_coding	YES	CCDS42648.1	ENSP00000256722	Q5EBM0		UPI000016014D	NM_207315.3			1/5		hmmpanther:PTHR10344:SF3,hmmpanther:PTHR10344,PIRSF_domain:PIRSF019736																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	45	6865226	6865226	T	A	1	0	0	0	0	0	0	0	1	3356	1683	59	4		4	CMPK2	2	6865226	Silent	SNP	T	C3N-00293_TP		6865226	235328303	40	13214											
NCOA1	0	.	GRCh38	chr2	24710978	24710978	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttactgcccacgctggaGaaggcagcacagttgccagg	10	6	13	12	1	0	1	0	0	0	1	0	2	0	1	2	3	4	5	2	3	2	2	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.2466G>A	p.=	p.E822E	ENST00000406961	14/23	315	296	19	233	233	0	strelka-varscan-mutect	NCOA1,synonymous_variant,p.=,ENST00000405141,;NCOA1,synonymous_variant,p.=,ENST00000406961,;NCOA1,synonymous_variant,p.=,ENST00000288599,NM_147223.2;NCOA1,synonymous_variant,p.=,ENST00000348332,NM_003743.4;NCOA1,synonymous_variant,p.=,ENST00000395856,NM_147233.2;NCOA1,synonymous_variant,p.=,ENST00000407230,;NCOA1,non_coding_transcript_exon_variant,,ENST00000486198,;	A	ENST00000406961	Transcript	synonymous_variant	3118/7289	2466/4326	822/1441	E	gaG/gaA		1		1	NCOA1	HGNC	HGNC:7668	protein_coding	YES	CCDS1712.1	ENSP00000385216	Q15788		UPI000006E1F7				14/23		hmmpanther:PTHR10684,hmmpanther:PTHR10684:SF1																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	45	24710978	24710978	G	A	1	0	0	0	0	0	0	0	1	10247	933	33	3		3	NCOA1	2	24710978	Silent	SNP	G	C3N-00293_TP	17845752	24710978	217482551	41	13215											
NRXN1	0	.	GRCh38	chr2	50346914	50346914	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgcccccgggcgagccCagctcggcgccgcaccggag	4	1	15	21	8	0	0	0	0	0	0	1	2	0	1	7	3	2	2	7	3	0	0	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.36G>T	p.=	p.L12L	ENST00000342183	1/6	119	110	9	99	99	0	strelka-varscan-mutect	NRXN1,synonymous_variant,p.=,ENST00000342183,NM_138735.2;NRXN1,synonymous_variant,p.=,ENST00000401710,;NRXN1,synonymous_variant,p.=,ENST00000628364,;NRXN1,intron_variant,,ENST00000406316,NM_004801.4;NRXN1,intron_variant,,ENST00000625672,;NRXN1,intron_variant,,ENST00000404971,NM_001135659.1;NRXN1,intron_variant,,ENST00000401669,;NRXN1,intron_variant,,ENST00000405472,;NRXN1,intron_variant,,ENST00000630543,;NRXN1,intron_variant,,ENST00000611589,;NRXN1,intron_variant,,ENST00000625320,;NRXN1,intron_variant,,ENST00000636298,;NRXN1,intron_variant,,ENST00000637889,;NRXN1,intron_variant,,ENST00000635264,;NRXN1,intron_variant,,ENST00000636818,;NRXN1,intron_variant,,ENST00000331040,;NRXN1,upstream_gene_variant,,ENST00000637906,;	A	ENST00000342183	Transcript	synonymous_variant	841/3315	36/1329	12/442	L	ctG/ctT		1		-1	NRXN1	HGNC	HGNC:8008	protein_coding		CCDS1845.1	ENSP00000341184	P58400		UPI000013D941	NM_138735.2			1/6																			LOW		SNV	1			1										PASS		.	.												A	2	1	45	50346914	50346914	C	A	1	0	0	0	0	0	0	0	1	10724	581	21	2		2	NRXN1	2	50346914	Silent	SNP	C	C3N-00293_TP	25635936	50346914	191846615	42	13216											
TACR1	0	.	GRCh38	chr2	75198734	75198734	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggttcaccagaaaatagttCgtcactgtcctcattctttt	10	15	6	10	1	4	1	3	0	1	1	6	1	5	1	2	1	0	2	2	1	3	6			C3N-00293_TP	C3N-00293_NB	C	C																c.201G>A	p.=	p.T67T	ENST00000305249	1/5	332	310	22	245	244	1	strelka-varscan-mutect	TACR1,synonymous_variant,p.=,ENST00000305249,NM_001058.3;TACR1,synonymous_variant,p.=,ENST00000409848,NM_015727.2;	T	ENST00000305249	Transcript	synonymous_variant	967/4959	201/1224	67/407	T	acG/acA	COSM1023122	1		-1	TACR1	HGNC	HGNC:11526	protein_coding	YES	CCDS1958.1	ENSP00000303522	P25103		UPI0000039D68	NM_001058.3			1/5		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF14,Superfamily_domains:SSF81321											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	45	75198734	75198734	C	T	1	0	0	0	0	0	0	0	1	15901	871	31	1		1	TACR1	2	75198734	Silent	SNP	C	C3N-00293_TP	24851820	75198734	166994795	43	13217											
FAHD2B	0	.	GRCh38	chr2	97090326	97090326	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaactgggcagccaaggctCtgtagagaccagagcaggtg	11	5	15	10	0	1	2	0	0	1	2	1	3	1	2	2	3	3	5	2	3	3	1	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.246-1G>A		p.X82_splice	ENST00000414820		141	128	13	100	100	0	varscan-mutect	FAHD2B,splice_acceptor_variant,,ENST00000414820,NM_001320848.1;FAHD2B,splice_acceptor_variant,,ENST00000272610,NM_199336.1;FAHD2B,splice_acceptor_variant,,ENST00000468548,;RP11-499E14.1,upstream_gene_variant,,ENST00000623986,;FAHD2B,splice_acceptor_variant,,ENST00000463096,;FAHD2B,splice_acceptor_variant,,ENST00000483657,;FAHD2B,intron_variant,,ENST00000474849,;	T	ENST00000414820	Transcript	splice_acceptor_variant	-/1388	246/945	82/314				1		-1	FAHD2B	HGNC	HGNC:25318	protein_coding	YES	CCDS2030.1	ENSP00000410470	Q6P2I3		UPI000004D29E	NM_001320848.1				3/8																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	45	97090326	97090326	C	T	1	0	0	0	0	0	0	1	0	5246	927	32	3		3	FAHD2B	2	97090326	Splice_Site	SNP	C	C3N-00293_TP	21891592	97090326	145103203	44	13218											
TSGA10	0	.	GRCh38	chr2	99078662	99078662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttctcagaacatactttCattgccaaactctctccaag	12	12	4	13	0	3	1	2	0	2	1	6	1	4	1	2	0	4	1	2	0	4	4	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.879G>A	p.Met293Ile	p.M293I	ENST00000393483	12/21	180	160	20	94	94	0	strelka-varscan-mutect	TSGA10,missense_variant,p.Met293Ile,ENST00000393483,NM_025244.2;TSGA10,missense_variant,p.Met293Ile,ENST00000355053,NM_182911.3;TSGA10,missense_variant,p.Met293Ile,ENST00000410001,;TSGA10,missense_variant,p.Met293Ile,ENST00000393482,;TSGA10,missense_variant,p.Met293Ile,ENST00000409564,;TSGA10,non_coding_transcript_exon_variant,,ENST00000489546,;TSGA10,non_coding_transcript_exon_variant,,ENST00000488960,;TSGA10,intron_variant,,ENST00000478090,;	T	ENST00000393483	Transcript	missense_variant	1724/3878	879/2097	293/698	M/I	atG/atA		1		-1	TSGA10	HGNC	HGNC:14927	protein_coding	YES	CCDS2037.1	ENSP00000377123	Q9BZW7		UPI0000072CE3	NM_025244.2	tolerated(0.87)		12/21		hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	99078662	99078662	C	T	1	0	0	0	0	1	0	0	0	17123	840	29	3		3	TSGA10	2	99078662	Missense_Mutation	SNP	C	C3N-00293_TP	1988336	99078662	143114867	45	13219											
RGPD4	0	.	GRCh38	chr2	107872290	107872290	+	Frame_Shift_Del	DEL	G	G	-																															gacagaaagagtatgggtgtGgactgcatgtgattttgcag																										C3N-00293_TP	C3N-00293_NB	G	G																c.4287delG	p.Trp1429Ter	p.W1429*	ENST00000408999	20/23	470	426	44	266	266	0	varindel-pindel	RGPD4,frameshift_variant,p.Trp1429Ter,ENST00000408999,NM_182588.2;	-	ENST00000408999	Transcript	frameshift_variant	4363/5464	4286/5277	1429/1758	W/X	tGg/tg	COSM3564998,COSM3564999	1		1	RGPD4	HGNC	HGNC:32417	protein_coding	YES	CCDS46381.1	ENSP00000386810	Q7Z3J3		UPI0000418FF7	NM_182588.2			20/23		PROSITE_profiles:PS50196,hmmpanther:PTHR23138:SF86,hmmpanther:PTHR23138,Gene3D:2.30.29.30,Pfam_domain:PF00638,SMART_domains:SM00160,Superfamily_domains:SSF50729											1,1						HIGH	1	deletion	1	1	1,1	1										PASS		.	.												-	7	5	45	107872290	107872290	G	-	1	0	1	0	1	0	0	0	0	13460	1357	47	0		0	RGPD4	2	107872290	Frame_Shift_Del	DEL	G	C3N-00293_TP	8793628	107872290	134321239	46	13220											
ACOXL	0	.	GRCh38	chr2	110794138	110794138	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgggagcaacgcgagaggGatccagaccgaagccacctt	12	4	13	12	3	0	2	0	0	0	2	1	6	1	4	4	2	3	1	4	2	2	1	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.309G>T	p.=	p.G103G	ENST00000439055	5/18	329	309	20	257	257	0	strelka-varscan-mutect	ACOXL,synonymous_variant,p.=,ENST00000389811,;ACOXL,synonymous_variant,p.=,ENST00000439055,NM_001142807.1;ACOXL,synonymous_variant,p.=,ENST00000340561,;ACOXL,upstream_gene_variant,,ENST00000417074,;ACOXL,downstream_gene_variant,,ENST00000448863,;ACOXL,non_coding_transcript_exon_variant,,ENST00000461340,;	T	ENST00000439055	Transcript	synonymous_variant	533/2373	309/1743	103/580	G	ggG/ggT		1		1	ACOXL	HGNC	HGNC:25621	protein_coding	YES	CCDS46389.1	ENSP00000407761	Q9NUZ1		UPI0001884BE2	NM_001142807.1			5/18		hmmpanther:PTHR10909:SF11,hmmpanther:PTHR10909,Gene3D:2.40.110.10,Pfam_domain:PF02770,Superfamily_domains:SSF56645																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	45	110794138	110794138	G	T	1	0	0	0	0	0	0	0	1	203	1161	41	2		2	ACOXL	2	110794138	Silent	SNP	G	C3N-00293_TP	2921848	110794138	131399391	47	13221											
TUBA3D	0	.	GRCh38	chr2	131479399	131479399	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaataattacgccaggggCcattacaccatcggcaagga	13	6	10	12	2	0	0	0	0	0	0	1	1	0	1	4	4	2	1	4	4	5	3	rs561620153		C3N-00293_TP	C3N-00293_NB	C	C																c.318C>A	p.=	p.G106G	ENST00000321253	3/5	319	301	18	236	236	0	varscan-mutect	TUBA3D,synonymous_variant,p.=,ENST00000321253,NM_080386.3;MZT2A,downstream_gene_variant,,ENST00000309451,NM_001085365.1;TUBA3D,non_coding_transcript_exon_variant,,ENST00000409047,;MZT2A,downstream_gene_variant,,ENST00000410036,;MZT2A,intron_variant,,ENST00000445782,;MZT2A,intron_variant,,ENST00000427024,;	A	ENST00000321253	Transcript	synonymous_variant	425/1546	318/1353	106/450	G	ggC/ggA	rs561620153	1		1	TUBA3D	HGNC	HGNC:24071	protein_coding	YES	CCDS33290.1	ENSP00000326042	Q13748	Q1ZYQ1	UPI0000027DB1	NM_080386.3			3/5		hmmpanther:PTHR11588:SF94,hmmpanther:PTHR11588,Gene3D:3.40.50.1440,Pfam_domain:PF00091,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161																	LOW	1	SNV	1			1										PASS		rs561620153	.												A	2	1	45	131479399	131479399	C	A	1	0	0	0	0	0	0	0	1	17257	726	26	2		2	TUBA3D	2	131479399	Silent	SNP	C	C3N-00293_TP	20685261	131479399	110714130	48	13222											
MAP3K19	0	.	GRCh38	chr2	134986317	134986317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactgcccagctgtcttctGaagggataaatgggatctgg	9	10	13	9	0	3	1	0	1	3	0	3	3	3	3	1	3	2	2	1	3	3	2	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.2555C>T	p.Ser852Leu	p.S852L	ENST00000392915	10/13	150	141	9	63	63	0	strelka-varscan-mutect	MAP3K19,missense_variant,p.Ser852Leu,ENST00000392915,;MAP3K19,missense_variant,p.Ser852Leu,ENST00000375845,NM_025052.4;MAP3K19,missense_variant,p.Ser739Leu,ENST00000358371,NM_001018044.2;MAP3K19,missense_variant,p.Ser757Leu,ENST00000637841,;MAP3K19,missense_variant,p.Ser242Leu,ENST00000437365,;MAP3K19,intron_variant,,ENST00000392917,NM_001282883.1;MAP3K19,intron_variant,,ENST00000375844,NM_001018046.2;MAP3K19,intron_variant,,ENST00000392918,NM_001018047.2;MAP3K19,non_coding_transcript_exon_variant,,ENST00000638025,;MAP3K19,upstream_gene_variant,,ENST00000478805,;	A	ENST00000392915	Transcript	missense_variant	3239/5030	2555/3987	852/1328	S/L	tCa/tTa		1		-1	MAP3K19	HGNC	HGNC:26249	protein_coding	YES	CCDS2176.2	ENSP00000376647		A8MWG7	UPI00004F77F2		tolerated(0.1)		10/13																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	45	134986317	134986317	G	A	1	0	0	0	0	1	0	0	0	9172	1294	45	3		3	MAP3K19	2	134986317	Missense_Mutation	SNP	G	C3N-00293_TP	3506918	134986317	107207212	49	13223											
SLC4A10	0	.	GRCh38	chr2	161905831	161905831	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggagaagttgtttgaactCagtgaagcatatccaatcaa	14	11	9	7	0	2	3	2	2	0	1	3	4	3	3	1	1	2	3	1	1	6	3	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1941C>G	p.=	p.L647L	ENST00000446997	15/27	191	170	21	100	100	0	strelka-varscan-mutect	SLC4A10,synonymous_variant,p.=,ENST00000375514,NM_001178016.1;SLC4A10,synonymous_variant,p.=,ENST00000415876,NM_022058.3;SLC4A10,synonymous_variant,p.=,ENST00000446997,NM_001178015.1;SLC4A10,synonymous_variant,p.=,ENST00000272716,;SLC4A10,synonymous_variant,p.=,ENST00000421911,;SLC4A10,downstream_gene_variant,,ENST00000493021,;SLC4A10,3_prime_UTR_variant,,ENST00000446228,;	G	ENST00000446997	Transcript	synonymous_variant	2034/5551	1941/3357	647/1118	L	ctC/ctG		1		1	SLC4A10	HGNC	HGNC:13811	protein_coding	YES	CCDS54411.1	ENSP00000393066	Q6U841		UPI00001D4707	NM_001178015.1			15/27		hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834,Prints_domain:PR01231																	LOW	1	SNV	1			1										PASS		rs1407871071	.												G	2	3	45	161905831	161905831	C	G	1	0	0	0	0	0	0	0	1	14928	813	29	4		4	SLC4A10	2	161905831	Silent	SNP	C	C3N-00293_TP	26919514	161905831	80287698	50	13224											
SCN3A	0	.	GRCh38	chr2	165090758	165090758	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcgcatcgggatcaaactTttcccaaacctcatagaaca	13	9	7	12	2	2	1	2	0	0	1	5	2	3	2	2	2	3	1	2	2	4	3	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.5395A>T	p.Lys1799Ter	p.K1799*	ENST00000283254	28/28	604	572	32	350	350	0	varscan-mutect	SCN3A,stop_gained,p.Lys1799Ter,ENST00000360093,;SCN3A,stop_gained,p.Lys1799Ter,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,stop_gained,p.Lys1750Ter,ENST00000409101,NM_001081677.1;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000628085,;AC013463.2,intron_variant,,ENST00000431341,;AC013463.2,upstream_gene_variant,,ENST00000625505,;SCN3A,downstream_gene_variant,,ENST00000465043,;SCN3A,downstream_gene_variant,,ENST00000471697,;	A	ENST00000283254	Transcript	stop_gained	5863/9091	5395/6003	1799/2000	K/*	Aag/Tag		1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1			28/28		Prints_domain:PR00170,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219																	HIGH	1	SNV	1			1										PASS		rs1170839078	.												A	4	1	45	165090758	165090758	T	A	1	0	0	0	0	0	1	0	0	14187	1850	64	4		4	SCN3A	2	165090758	Nonsense_Mutation	SNP	T	C3N-00293_TP	3184927	165090758	77102771	51	13225											
XIRP2	0	.	GRCh38	chr2	167249993	167249993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcttgattcacagactcaGaattttcagcaaacacaaat	16	11	4	10	0	4	3	3	1	1	2	4	3	4	3	0	0	2	1	0	0	3	4	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.8601G>C	p.Gln2867His	p.Q2867H	ENST00000409195	9/11	356	326	30	189	189	0	strelka-varscan-mutect	XIRP2,missense_variant,p.Gln2867His,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Gln2645His,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Gln2692His,ENST00000628543,;XIRP2,missense_variant,p.Gln281His,ENST00000295237,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	C	ENST00000409195	Transcript	missense_variant	8690/12675	8601/10650	2867/3549	Q/H	caG/caC		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	tolerated(0.05)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	45	167249993	167249993	G	C	1	0	0	0	0	1	0	0	0	17989	933	33	4		4	XIRP2	2	167249993	Missense_Mutation	SNP	G	C3N-00293_TP	2159235	167249993	74943536	52	13226											
TTC30A	0	.	GRCh38	chr2	177616993	177616994	+	Frame_Shift_Ins	INS	-	-	T																															tttattataaggctccaagcINSttttgataactcgagaaata																								novel		C3N-00293_TP	C3N-00293_NB	-	-																c.1708dupA	p.Ser570LysfsTer6	p.S570Kfs*6	ENST00000355689	1/1	147	135	12	74	74	0	sindel-varindel	TTC30A,frameshift_variant,p.Ser570LysfsTer6,ENST00000355689,NM_152275.3;AC073834.3,intron_variant,,ENST00000357045,;	T	ENST00000355689	Transcript	frameshift_variant	1973-1974/5975	1708-1709/1998	570/665	S/KX	agc/aAgc		1		-1	TTC30A	HGNC	HGNC:25853	protein_coding	YES	CCDS2276.1	ENSP00000347915	Q86WT1		UPI0000209161	NM_152275.3			1/1		hmmpanther:PTHR20931:SF3,hmmpanther:PTHR20931																	HIGH		insertion				1										PASS		.	.												T	7	5	45	177616993	177616993	-	T	1	0	1	1	0	0	0	0	0	17207	797	28	0		0	TTC30A	2	177616993	Frame_Shift_Ins	INS	-	C3N-00293_TP	10367000	177616993	64576536	53	13227											
TTN	0	.	GRCh38	chr2	178620627	178620627	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatcctaaggtcttcctcTgttgtaaaggagaaaaatat	15	12	7	7	0	2	1	0	0	2	1	4	2	4	1	2	2	0	2	2	2	7	5	rs869025548		C3N-00293_TP	C3N-00293_NB	T	T																c.45896-2A>T		p.X15299_splice	ENST00000589042		164	151	13	62	62	0	strelka-varscan-mutect	TTN,splice_acceptor_variant,,ENST00000589042,NM_001267550.2;TTN,splice_acceptor_variant,,ENST00000591111,;TTN,splice_acceptor_variant,,ENST00000615779,NM_001256850.1;TTN,splice_acceptor_variant,,ENST00000342992,NM_133378.4;TTN,splice_acceptor_variant,,ENST00000460472,NM_003319.4;TTN,splice_acceptor_variant,,ENST00000342175,NM_133437.4;TTN,splice_acceptor_variant,,ENST00000359218,NM_133432.3;RP11-171I2.4,downstream_gene_variant,,ENST00000605334,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000456053,;TTN-AS1,downstream_gene_variant,,ENST00000604956,;TTN-AS1,downstream_gene_variant,,ENST00000627527,;TTN-AS1,downstream_gene_variant,,ENST00000626138,;TTN-AS1,downstream_gene_variant,,ENST00000592750,;	A	ENST00000589042	Transcript	splice_acceptor_variant	-/109224	45896/107976	15299/35991			rs869025548	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2				247/362											likely_pathogenic							HIGH	1	SNV	5		1	1										PASS		rs869025548	.												A	5	1	45	178620627	178620627	T	A	1	0	0	0	0	0	0	1	0	17245	1594	55	4		4	TTN	2	178620627	Splice_Site	SNP	T	C3N-00293_TP	1003634	178620627	63572902	54	13228											
TTN	0	.	GRCh38	chr2	178710826	178710826	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctgacctttatcggtTgtgtgcccgtgacgtggcac	5	11	12	13	3	0	2	0	2	0	0	1	2	0	2	3	2	2	3	3	2	1	3	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.28271A>T	p.Gln9424Leu	p.Q9424L	ENST00000589042	98/363	334	315	19	243	243	0	strelka-varscan-mutect	TTN,missense_variant,p.Gln9424Leu,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Gln9107Leu,ENST00000591111,;TTN,missense_variant,p.Gln9107Leu,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Gln8180Leu,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;	A	ENST00000589042	Transcript	missense_variant	28496/109224	28271/107976	9424/35991	Q/L	cAa/cTa		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			98/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF10,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	45	178710826	178710826	T	A	1	0	0	0	0	1	0	0	0	17245	1812	63	4		4	TTN	2	178710826	Missense_Mutation	SNP	T	C3N-00293_TP	90199	178710826	63482703	55	13229											
SESTD1	0	.	GRCh38	chr2	179124365	179124365	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagaatagacacttacaTcttgggcaacaccatgaaat	17	9	6	9	0	2	3	1	1	1	2	2	3	2	3	1	1	2	1	1	1	6	3	rs147627596		C3N-00293_TP	C3N-00293_NB	T	T																c.1166A>T	p.Asp389Val	p.D389V	ENST00000428443	11/18	139	130	9	59	59	0	strelka-varscan-mutect	SESTD1,missense_variant,p.Asp389Val,ENST00000428443,NM_178123.4;SESTD1,missense_variant,p.Asp35Val,ENST00000446758,;SESTD1,missense_variant,p.Asp196Val,ENST00000426988,;SESTD1,intron_variant,,ENST00000335289,;	A	ENST00000428443	Transcript	missense_variant,splice_region_variant	1483/10615	1166/2091	389/696	D/V	gAt/gTt	rs147627596	1		-1	SESTD1	HGNC	HGNC:18379	protein_coding	YES	CCDS33338.1	ENSP00000415332	Q86VW0		UPI0000043424	NM_178123.4	deleterious(0.01)		11/18		Low_complexity_(Seg):seg,hmmpanther:PTHR22826:SF19,hmmpanther:PTHR22826																	MODERATE	1	SNV	1			1										PASS		rs147627596	.												A	3	1	45	179124365	179124365	T	A	1	0	0	0	0	1	0	0	0	14404	1449	50	4		4	SESTD1	2	179124365	Missense_Mutation	SNP	T	C3N-00293_TP	413539	179124365	63069164	56	13230											
FSIP2	0	.	GRCh38	chr2	185796749	185796749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagtacagggtttcatcaGatttacccacctctgtcaga	13	11	7	10	0	4	2	3	0	1	2	4	2	4	2	2	1	2	2	2	1	4	4	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.9880G>A	p.Asp3294Asn	p.D3294N	ENST00000343098	16/23	241	226	15	97	97	0	strelka-varscan-mutect	FSIP2,missense_variant,p.Asp3294Asn,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Asp3205Asn,ENST00000424728,;FSIP2-AS1,intron_variant,,ENST00000436557,;FSIP2-AS1,intron_variant,,ENST00000429929,;FSIP2,missense_variant,p.Asp712Asn,ENST00000415915,;	A	ENST00000343098	Transcript	missense_variant	9880/21054	9880/20991	3294/6996	D/N	Gat/Aat		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	tolerated(1)		16/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	45	185796749	185796749	G	A	1	0	0	0	0	1	0	0	0	5949	942	33	3		3	FSIP2	2	185796749	Missense_Mutation	SNP	G	C3N-00293_TP	6672384	185796749	56396780	57	13231											
FSIP2	0	.	GRCh38	chr2	185802234	185802235	+	Frame_Shift_Ins	INS	-	-	G																															tcaccttgattcatttgtaaINSgggagattgttgccagactt																								novel		C3N-00293_TP	C3N-00293_NB	-	-																c.13198dupG	p.Glu4400GlyfsTer16	p.E4400Gfs*16	ENST00000343098	17/23	210	183	27	106	106	0	sindel-varindel-pindel	FSIP2,frameshift_variant,p.Glu4400GlyfsTer16,ENST00000343098,NM_173651.2;FSIP2,frameshift_variant,p.Glu4311GlyfsTer16,ENST00000424728,;FSIP2,upstream_gene_variant,,ENST00000611759,;FSIP2-AS1,upstream_gene_variant,,ENST00000436557,;FSIP2-AS1,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;	G	ENST00000343098	Transcript	frameshift_variant	13195-13196/21054	13195-13196/20991	4399/6996	R/RX	agg/aGgg		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2			17/23		Pfam_domain:PF15783,hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	HIGH		insertion	5	3		1										PASS		.	.												G	7	5	45	185802234	185802234	-	G	1	0	1	1	0	0	0	0	0	5949	63	3	0		0	FSIP2	2	185802234	Frame_Shift_Ins	INS	-	C3N-00293_TP	5485	185802234	56391295	58	13232											
SF3B1	0	.	GRCh38	chr2	197402110	197402110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactgatggtccgaacttTctgctgctcatccacaagac	10	10	8	13	1	2	2	1	1	1	1	4	3	4	2	2	1	4	3	2	1	2	1	rs559063155		C3N-00293_TP	C3N-00293_NB	T	T																c.2098A>G	p.Lys700Glu	p.K700E	ENST00000335508	15/25	161	143	18	117	117	0	strelka-varscan-mutect	SF3B1,missense_variant,p.Lys700Glu,ENST00000335508,NM_012433.2;SF3B1,upstream_gene_variant,,ENST00000424674,;SNORA4,upstream_gene_variant,,ENST00000365564,;SF3B1,non_coding_transcript_exon_variant,,ENST00000462613,;SF3B1,upstream_gene_variant,,ENST00000496458,;	C	ENST00000335508	Transcript	missense_variant	2190/6526	2098/3915	700/1304	K/E	Aaa/Gaa	rs559063155,COSM84677	1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)		15/25		hmmpanther:PTHR12097,Gene3D:1.25.10.10,Superfamily_domains:SSF48371											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs559063155	.												C	3	2	45	197402110	197402110	T	C	1	0	0	0	0	1	0	0	0	14428	1792	62	5		5	SF3B1	2	197402110	Missense_Mutation	SNP	T	C3N-00293_TP	11599876	197402110	44791419	59	13233											
PLCL1	0	.	GRCh38	chr2	198084481	198084481	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtatttcttacttgtaCagatatctaaaaacaaagaa	18	13	5	5	0	2	2	0	0	2	2	2	2	2	2	0	0	3	2	0	0	10	7	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.964C>T	p.Gln322Ter	p.Q322*	ENST00000428675	2/6	263	222	41	132	132	0	strelka-varscan-mutect	PLCL1,stop_gained,p.Gln245Ter,ENST00000437704,;PLCL1,stop_gained,p.Gln322Ter,ENST00000428675,NM_006226.3;PLCL1,stop_gained,p.Gln248Ter,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	T	ENST00000428675	Transcript	stop_gained	1362/5125	964/3288	322/1095	Q/*	Cag/Tag		1		1	PLCL1	HGNC	HGNC:9063	protein_coding	YES	CCDS2326.2	ENSP00000402861	Q15111		UPI000165BCF5	NM_006226.3			2/6		hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF102,Pfam_domain:PF09279,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	45	198084481	198084481	C	T	1	0	0	0	0	0	1	0	0	12133	479	17	3		3	PLCL1	2	198084481	Nonsense_Mutation	SNP	C	C3N-00293_TP	682371	198084481	44109048	60	13234											
AOX1	0	.	GRCh38	chr2	200666699	200666699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatactagaacatcagaacaGacattgtcatggatgttggc	15	10	9	7	0	2	3	2	0	0	3	2	4	2	4	0	2	3	1	0	2	5	4	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.3556G>T	p.Asp1186Tyr	p.D1186Y	ENST00000374700	32/35	135	125	10	93	92	1	strelka-varscan-mutect	AOX1,missense_variant,p.Asp1186Tyr,ENST00000374700,NM_001159.3;AOX1,missense_variant,p.Asp26Tyr,ENST00000439380,;AOX1,missense_variant,p.Asp72Tyr,ENST00000260930,;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;	T	ENST00000374700	Transcript	missense_variant	3797/5074	3556/4017	1186/1338	D/Y	Gac/Tac		1		1	AOX1	HGNC	HGNC:553	protein_coding	YES	CCDS33360.1	ENSP00000363832	Q06278		UPI0000071863	NM_001159.3	deleterious(0.01)		32/35		hmmpanther:PTHR11908:SF86,hmmpanther:PTHR11908,Pfam_domain:PF02738,Gene3D:3.30.365.10,PIRSF_domain:PIRSF000127,TIGRFAM_domain:TIGR02969,Superfamily_domains:SSF56003																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	200666699	200666699	G	T	1	0	0	0	0	1	0	0	0	839	942	33	2		2	AOX1	2	200666699	Missense_Mutation	SNP	G	C3N-00293_TP	2582218	200666699	41526830	61	13235											
ATIC	0	.	GRCh38	chr2	215338905	215338905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttgttaccaaaaataaaGatgtaagttgggaagtatct	16	13	9	3	0	1	1	0	0	1	1	1	2	1	2	1	1	1	5	1	1	8	6	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1225G>A	p.Asp409Asn	p.D409N	ENST00000236959	12/16	350	329	21	146	146	0	strelka-varscan-mutect	ATIC,missense_variant,p.Asp408Asn,ENST00000435675,;ATIC,missense_variant,p.Asp409Asn,ENST00000236959,NM_004044.6;ATIC,missense_variant,p.Asp78Asn,ENST00000426233,;ATIC,splice_region_variant,,ENST00000446622,;ATIC,splice_region_variant,,ENST00000443953,;ATIC,splice_region_variant,,ENST00000459796,;ATIC,splice_region_variant,,ENST00000479093,;ATIC,splice_region_variant,,ENST00000467388,;ATIC,downstream_gene_variant,,ENST00000427397,;	A	ENST00000236959	Transcript	missense_variant,splice_region_variant	1551/2213	1225/1779	409/592	D/N	Gat/Aat		1		1	ATIC	HGNC	HGNC:794	protein_coding	YES	CCDS2398.1	ENSP00000236959	P31939	V9HWH7	UPI000000122D	NM_004044.6	tolerated(0.52)		12/16		HAMAP:MF_00139,hmmpanther:PTHR11692:SF0,hmmpanther:PTHR11692,Gene3D:3.40.140.20,Pfam_domain:PF01808,PIRSF_domain:PIRSF000414,TIGRFAM_domain:TIGR00355,SMART_domains:SM00798,Superfamily_domains:SSF53927																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	215338905	215338905	G	A	1	0	0	0	0	1	0	0	0	1257	956	33	3		3	ATIC	2	215338905	Missense_Mutation	SNP	G	C3N-00293_TP	14672206	215338905	26854624	62	13236											
CATIP	0	.	GRCh38	chr2	218362760	218362760	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagactggagtgacttcttTcccctggagctcaatcaagg	10	10	11	10	0	3	2	2	1	1	1	4	5	4	4	2	3	1	1	2	3	3	2	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.488T>G	p.Phe163Cys	p.F163C	ENST00000289388	6/10	141	126	15	113	113	0	strelka-varscan-mutect	CATIP,missense_variant,p.Phe163Cys,ENST00000289388,NM_198559.1;CATIP-AS2,upstream_gene_variant,,ENST00000411433,;CATIP-AS1,downstream_gene_variant,,ENST00000441749,;CATIP,intron_variant,,ENST00000481940,;CATIP,upstream_gene_variant,,ENST00000494447,;CATIP,downstream_gene_variant,,ENST00000480532,;CATIP,downstream_gene_variant,,ENST00000495773,;CATIP-AS1,downstream_gene_variant,,ENST00000425481,;	G	ENST00000289388	Transcript	missense_variant	517/1323	488/1164	163/387	F/C	tTc/tGc		1		1	CATIP	HGNC	HGNC:25062	protein_coding	YES	CCDS2414.1	ENSP00000289388	Q7Z7H3		UPI000019B2D3	NM_198559.1	deleterious(0.01)		6/10		hmmpanther:PTHR15505,hmmpanther:PTHR15505:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	45	218362760	218362760	T	G	1	0	0	0	0	1	0	0	0	2386	1783	62	5		5	CATIP	2	218362760	Missense_Mutation	SNP	T	C3N-00293_TP	3023855	218362760	23830769	63	13237											
SPEG	0	.	GRCh38	chr2	219484393	219484393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagaaagcccgagttccCacggtgccccccaggccagg	8	3	13	17	3	0	1	0	0	0	1	1	3	1	1	7	3	2	1	7	3	1	1	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.6930C>T	p.=	p.P2310P	ENST00000312358	30/41	569	526	43	465	465	0	strelka-varscan-mutect	SPEG,synonymous_variant,p.=,ENST00000312358,NM_005876.4;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	T	ENST00000312358	Transcript	synonymous_variant	7062/10782	6930/9804	2310/3267	P	ccC/ccT		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4			30/41		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF728																	LOW		SNV	5			1										PASS		.	.												T	2	4	45	219484393	219484393	C	T	1	0	0	0	0	0	0	0	1	15387	581	21	3		3	SPEG	2	219484393	Silent	SNP	C	C3N-00293_TP	1121633	219484393	22709136	64	13238											
EPHA4	0	.	GRCh38	chr2	221564113	221564113	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctctcatcagcagcaatGgtgtcaattttgacaaactg	13	11	8	9	0	3	1	3	1	1	0	4	1	3	1	0	1	4	3	0	1	4	2	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.441C>T	p.=	p.T147T	ENST00000281821	3/18	267	253	14	205	204	1	strelka-varscan-mutect	EPHA4,synonymous_variant,p.=,ENST00000281821,NM_001304536.1,NM_001304537.1,NM_004438.4;EPHA4,synonymous_variant,p.=,ENST00000409854,;EPHA4,synonymous_variant,p.=,ENST00000409938,;EPHA4,synonymous_variant,p.=,ENST00000541600,;EPHA4,synonymous_variant,p.=,ENST00000419964,;EPHA4,intron_variant,,ENST00000443796,;EPHA4,downstream_gene_variant,,ENST00000434266,;EPHA4,3_prime_UTR_variant,,ENST00000415749,;	A	ENST00000281821	Transcript	synonymous_variant	483/6346	441/2961	147/986	T	acC/acT		1		-1	EPHA4	HGNC	HGNC:3388	protein_coding	YES	CCDS2447.1	ENSP00000281821	P54764	A0A024R452	UPI000012A077	NM_001304536.1,NM_001304537.1,NM_004438.4			3/18		PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF337,hmmpanther:PTHR24416,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,Gene3D:2.60.120.260,SMART_domains:SM00615,Superfamily_domains:SSF49785																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	45	221564113	221564113	G	A	1	0	0	0	0	0	0	0	1	5016	1335	47	3		3	EPHA4	2	221564113	Silent	SNP	G	C3N-00293_TP	2079720	221564113	20629416	65	13239											
DOCK10	0	.	GRCh38	chr2	224795064	224795064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtccttatacgcttagtcaGgtccttcacctctgctggga	7	13	9	12	1	3	0	2	0	1	0	5	1	5	1	3	2	2	2	3	2	3	4	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.4969C>G	p.Leu1657Val	p.L1657V	ENST00000258390	45/56	357	336	21	237	237	0	strelka-varscan-mutect	DOCK10,missense_variant,p.Leu1651Val,ENST00000409592,NM_001290263.1;DOCK10,missense_variant,p.Leu1657Val,ENST00000258390,NM_014689.2;DOCK10,non_coding_transcript_exon_variant,,ENST00000492251,;	C	ENST00000258390	Transcript	missense_variant	5037/7260	4969/6561	1657/2186	L/V	Ctg/Gtg		1		-1	DOCK10	HGNC	HGNC:23479	protein_coding	YES	CCDS46528.1	ENSP00000258390	Q96BY6		UPI000021D2A7	NM_014689.2	deleterious(0)		45/56		Pfam_domain:PF06920,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF71																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	45	224795064	224795064	G	C	1	0	0	0	0	1	0	0	0	4500	991	35	4		4	DOCK10	2	224795064	Missense_Mutation	SNP	G	C3N-00293_TP	3230951	224795064	17398465	66	13240											
ALPPL2	0	.	GRCh38	chr2	232407690	232407690	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagaccattggcttgagtGcagccgcccgctttaaccag	8	9	10	14	2	0	2	0	1	0	1	1	2	1	2	5	1	3	3	5	1	1	4	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.397G>C	p.Ala133Pro	p.A133P	ENST00000295453	4/11	437	402	35	310	310	0	varscan-mutect	ALPPL2,missense_variant,p.Ala133Pro,ENST00000295453,NM_031313.2;	C	ENST00000295453	Transcript	missense_variant	449/2493	397/1599	133/532	A/P	Gca/Cca		1		1	ALPPL2	HGNC	HGNC:441	protein_coding	YES	CCDS2491.1	ENSP00000295453	P10696		UPI000013E259	NM_031313.2	deleterious(0.01)		4/11		hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF34,Pfam_domain:PF00245,Gene3D:3.40.720.10,SMART_domains:SM00098,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	232407690	232407690	G	C	1	0	0	0	0	1	0	0	0	649	1319	46	4		4	ALPPL2	2	232407690	Missense_Mutation	SNP	G	C3N-00293_TP	7612626	232407690	9785839	67	13241											
ITPR1	0	.	GRCh38	chr3	4627854	4627854	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccaacagcaccacagaCgcagtgctactcaacaaact	14	4	9	14	1	1	1	1	0	0	1	1	1	1	1	2	2	6	3	2	2	4	1	rs367814655		C3N-00293_TP	C3N-00293_NB	C	C																c.255C>T	p.=	p.D85D	ENST00000302640	5/61	107	98	9	82	82	0	strelka-varscan-mutect	ITPR1,synonymous_variant,p.=,ENST00000354582,;ITPR1,synonymous_variant,p.=,ENST00000302640,NM_001168272.1;ITPR1,synonymous_variant,p.=,ENST00000357086,NM_001099952.2;ITPR1,synonymous_variant,p.=,ENST00000456211,NM_002222.5;ITPR1,synonymous_variant,p.=,ENST00000443694,;ITPR1,synonymous_variant,p.=,ENST00000544951,;ITPR1,non_coding_transcript_exon_variant,,ENST00000491868,;ITPR1,non_coding_transcript_exon_variant,,ENST00000467056,;	T	ENST00000302640	Transcript	synonymous_variant	605/10197	255/8232	85/2743	D	gaC/gaT	rs367814655,COSM1423401,COSM1423402,COSM1423403	1		1	ITPR1	HGNC	HGNC:6180	protein_coding	YES	CCDS54551.1	ENSP00000306253	Q14643		UPI0000E5A461	NM_001168272.1			5/61		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF52,Pfam_domain:PF08709,Gene3D:2.80.10.50											0,1,1,1						LOW	1	SNV	5		0,1,1,1	1										PASS		rs367814655	.												T	2	4	45	4627854	4627854	C	T	1	0	0	0	0	0	0	0	1	7826	535	19	1		1	ITPR1	3	4627854	Silent	SNP	C	C3N-00293_TP		4627854	193667705	68	13242											
LRRC3B	0	.	GRCh38	chr3	26709825	26709825	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtttaaatgtcacctgtagCaatgcaaatctcaaggaaat	15	11	8	7	0	2	0	2	0	1	0	3	1	2	1	1	2	2	4	1	2	7	3	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.153C>T	p.=	p.S51S	ENST00000396641	2/2	301	273	28	193	193	0	strelka-varscan-mutect	LRRC3B,synonymous_variant,p.=,ENST00000396641,NM_052953.2;LRRC3B,synonymous_variant,p.=,ENST00000417744,NM_001317810.1;LRRC3B,synonymous_variant,p.=,ENST00000456208,NM_001317811.1;LRRC3B,synonymous_variant,p.=,ENST00000432040,;LRRC3B,synonymous_variant,p.=,ENST00000414619,;AC114877.3,upstream_gene_variant,,ENST00000446601,;LRRC3B,downstream_gene_variant,,ENST00000469437,;	T	ENST00000396641	Transcript	synonymous_variant	745/1696	153/780	51/259	S	agC/agT		1		1	LRRC3B	HGNC	HGNC:28105	protein_coding	YES	CCDS2644.1	ENSP00000379880	Q96PB8	A0A024R2R0	UPI000000D990	NM_052953.2			2/2		Gene3D:3.80.10.10,Pfam_domain:PF01462,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF346,SMART_domains:SM00013,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	45	26709825	26709825	C	T	1	0	0	0	0	0	0	0	1	8891	709	25	3		3	LRRC3B	3	26709825	Silent	SNP	C	C3N-00293_TP	22081971	26709825	171585734	69	13243											
ULK4	0	.	GRCh38	chr3	41935875	41935875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactaatcaggtcaattcCaaattctctcacaacatctt	13	13	2	13	0	5	0	3	0	2	0	8	0	7	0	2	1	1	0	2	1	4	4	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.304G>A	p.Gly102Arg	p.G102R	ENST00000301831	4/37	262	247	15	135	135	0	strelka-varscan-mutect	ULK4,missense_variant,p.Gly102Arg,ENST00000301831,NM_017886.2;ULK4,missense_variant,p.Gly102Arg,ENST00000420927,;ULK4,downstream_gene_variant,,ENST00000414606,;ULK4,non_coding_transcript_exon_variant,,ENST00000459802,;ULK4,3_prime_UTR_variant,,ENST00000453224,;ULK4,non_coding_transcript_exon_variant,,ENST00000497684,;ULK4,downstream_gene_variant,,ENST00000460978,;ULK4,downstream_gene_variant,,ENST00000431379,;	T	ENST00000301831	Transcript	missense_variant	767/4613	304/3828	102/1275	G/R	Gga/Aga		1		-1	ULK4	HGNC	HGNC:15784	protein_coding	YES	CCDS43071.1	ENSP00000301831	Q96C45		UPI0000E8267C	NM_017886.2	deleterious(0)		4/37		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22983,hmmpanther:PTHR22983:SF15,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	45	41935875	41935875	C	T	1	0	0	0	0	1	0	0	0	17501	603	21	3		3	ULK4	3	41935875	Missense_Mutation	SNP	C	C3N-00293_TP	15226050	41935875	156359684	70	13244											
MUC13	0	.	GRCh38	chr3	124908195	124908195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttgaatagggattttgCatctggctgtctctggaggc	6	15	13	7	0	3	1	0	1	3	0	4	3	3	3	0	4	1	2	0	4	2	4	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1491G>T	p.Met497Ile	p.M497I	ENST00000616727	11/12	516	457	59	452	451	1	strelka-varscan-mutect	MUC13,missense_variant,p.Met497Ile,ENST00000616727,NM_033049.3;MUC13,downstream_gene_variant,,ENST00000462728,;	A	ENST00000616727	Transcript	missense_variant	1530/2879	1491/1539	497/512	M/I	atG/atT		1		-1	MUC13	HGNC	HGNC:7511	protein_coding	YES		ENSP00000485028	Q9H3R2		UPI00000730EB	NM_033049.3	tolerated(0.41)		11/12		hmmpanther:PTHR24041:SF24,hmmpanther:PTHR24041																	MODERATE	1	SNV	1			1										PASS		rs969504961	.												A	3	1	45	124908195	124908195	C	A	1	0	0	0	0	1	0	0	0	9970	710	25	2		2	MUC13	3	124908195	Missense_Mutation	SNP	C	C3N-00293_TP	82972320	124908195	73387364	71	13245											
PIK3R4	0	.	GRCh38	chr3	130681490	130681490	+	Splice_Site	SNP	C	C	A																															cagtaaaaactgaagtcaaaCctgtaattcagaaagtggtg																								novel		C3N-00293_TP	C3N-00293_NB	C	C																c.3708+1G>T		p.X1236_splice	ENST00000356763		151	134	17	102	102	0	strelka-varscan-mutect	PIK3R4,splice_donor_variant,,ENST00000356763,NM_014602.2;COL6A6,downstream_gene_variant,,ENST00000358511,NM_001102608.1;PIK3R4,splice_donor_variant,,ENST00000512677,;PIK3R4,splice_donor_variant,,ENST00000512362,;COL6A6,downstream_gene_variant,,ENST00000506143,;PIK3R4,upstream_gene_variant,,ENST00000511760,;	A	ENST00000356763	Transcript	splice_donor_variant	-/5015	3708/4077	1236/1358				1		-1	PIK3R4	HGNC	HGNC:8982	protein_coding	YES	CCDS3067.1	ENSP00000349205	Q99570		UPI0000071EF3	NM_014602.2				17/19																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	45	130681490	130681490	C	A	1	0	0	0	0	0	0	1	0	12016	521	18	2		2	PIK3R4	3	130681490	Splice_Site	SNP	C	C3N-00293_TP	5773295	130681490	67614069	72	13246	306	2									
PIK3R4	0	.	GRCh38	chr3	130681491	130681491	+	Missense_Mutation	SNP	C	C	A																															agtaaaaactgaagtcaaacCtgtaattcagaaagtggtgg																								novel		C3N-00293_TP	C3N-00293_NB	C	C																c.3708G>T	p.Gln1236His	p.Q1236H	ENST00000356763	17/20	155	138	17	103	101	2	strelka-varscan	PIK3R4,missense_variant,p.Gln1236His,ENST00000356763,NM_014602.2;COL6A6,downstream_gene_variant,,ENST00000358511,NM_001102608.1;PIK3R4,splice_region_variant,,ENST00000512677,;PIK3R4,splice_region_variant,,ENST00000512362,;COL6A6,downstream_gene_variant,,ENST00000506143,;PIK3R4,upstream_gene_variant,,ENST00000511760,;	A	ENST00000356763	Transcript	missense_variant,splice_region_variant	4266/5015	3708/4077	1236/1358	Q/H	caG/caT		1		-1	PIK3R4	HGNC	HGNC:8982	protein_coding	YES	CCDS3067.1	ENSP00000349205	Q99570		UPI0000071EF3	NM_014602.2	deleterious(0)		17/20		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR17583,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	130681491	130681491	C	A	1	0	0	0	0	1	0	0	0	12016	695	24	2		2	PIK3R4	3	130681491	Missense_Mutation	SNP	C	C3N-00293_TP	1	130681491	67614068	73	13247	306	2									
PRR23B	0	.	GRCh38	chr3	139020251	139020251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcgcagaattccagctcGacgacgacgtcctccctgac	9	7	10	15	5	0	2	0	1	0	1	4	6	3	2	3	0	2	2	3	0	1	1	rs771282672		C3N-00293_TP	C3N-00293_NB	G	G																c.411C>T	p.=	p.V137V	ENST00000329447	1/1	417	372	45	335	335	0	strelka-varscan-mutect	PRR23B,synonymous_variant,p.=,ENST00000329447,NM_001013650.2;MRPS22,intron_variant,,ENST00000495075,;	A	ENST00000329447	Transcript	synonymous_variant	676/1896	411/798	137/265	V	gtC/gtT	rs771282672	1		-1	PRR23B	HGNC	HGNC:33764	protein_coding	YES	CCDS33868.1	ENSP00000328768	Q6ZRT6		UPI00001C0F1A	NM_001013650.2			1/1		hmmpanther:PTHR31813:SF7,hmmpanther:PTHR31813,Pfam_domain:PF10630																	LOW		SNV				1										PASS		rs771282672	.												A	2	1	45	139020251	139020251	G	A	1	0	0	0	0	0	0	0	1	12730	1045	37	1		1	PRR23B	3	139020251	Silent	SNP	G	C3N-00293_TP	8338760	139020251	59275308	74	13248											
RASA2	0	.	GRCh38	chr3	141577064	141577064	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtttctttgctgtagcCgtagtatcacctcatacttt	6	18	6	11	2	3	0	2	0	1	0	4	0	3	0	2	0	3	5	2	0	4	8	rs765379914		C3N-00293_TP	C3N-00293_NB	C	C																c.1548C>T	p.=	p.A516A	ENST00000286364	15/24	339	317	22	209	209	0	strelka-varscan-mutect	RASA2,synonymous_variant,p.=,ENST00000286364,NM_001303246.1,NM_001303245.1,NM_006506.3;RASA2,synonymous_variant,p.=,ENST00000452898,;RASA2,upstream_gene_variant,,ENST00000509118,;RASA2,upstream_gene_variant,,ENST00000509032,;RASA2,upstream_gene_variant,,ENST00000505833,;	T	ENST00000286364	Transcript	synonymous_variant	1583/5614	1548/2550	516/849	A	gcC/gcT	rs765379914,COSM4114064,COSM4114065,COSM729018,COSM729019	1		1	RASA2	HGNC	HGNC:9872	protein_coding	YES	CCDS3117.1	ENSP00000286364	Q15283		UPI00001351F5	NM_001303246.1,NM_001303245.1,NM_006506.3			15/24		Low_complexity_(Seg):seg,PROSITE_profiles:PS50018,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF21,PROSITE_patterns:PS00509,Gene3D:1.10.506.10,Pfam_domain:PF00616,SMART_domains:SM00323,Superfamily_domains:SSF48350											0,1,1,1,1						LOW	1	SNV	1		0,1,1,1,1	1										PASS		rs765379914	.												T	2	4	45	141577064	141577064	C	T	1	0	0	0	0	0	0	0	1	13220	639	23	1		1	RASA2	3	141577064	Silent	SNP	C	C3N-00293_TP	2556813	141577064	56718495	75	13249											
ATR	0	.	GRCh38	chr3	142469472	142469472	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaattgtgaaaaagcagtCaaaaattgatatggagctaa	19	10	8	4	0	2	2	2	2	0	0	2	3	2	3	0	1	2	2	0	1	7	4	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.6417G>C	p.Leu2139Phe	p.L2139F	ENST00000350721	38/47	294	275	19	164	164	0	strelka-varscan-mutect	ATR,missense_variant,p.Leu2139Phe,ENST00000350721,NM_001184.3;ATR,upstream_gene_variant,,ENST00000513291,;RP11-383G6.3,intron_variant,,ENST00000460977,;	G	ENST00000350721	Transcript	missense_variant	6539/8249	6417/7935	2139/2644	L/F	ttG/ttC		1		-1	ATR	HGNC	HGNC:882	protein_coding	YES	CCDS3124.1	ENSP00000343741	Q13535		UPI0000031A31	NM_001184.3	tolerated(0.07)		38/47		PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF69,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	45	142469472	142469472	C	G	1	0	0	0	0	1	0	0	0	1356	825	29	4		4	ATR	3	142469472	Missense_Mutation	SNP	C	C3N-00293_TP	892408	142469472	55826087	76	13250											
SLC9A9	0	.	GRCh38	chr3	143796845	143796845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttctttagactatatcctGcatgaaatataattggtggc	11	15	7	8	0	1	2	0	1	1	1	2	2	2	2	2	2	1	1	2	2	6	8	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.437C>A	p.Ala146Glu	p.A146E	ENST00000316549	3/16	119	112	7	75	75	0	strelka-varscan-mutect	SLC9A9,missense_variant,p.Ala146Glu,ENST00000316549,NM_173653.3;SLC9A9,intron_variant,,ENST00000474151,;SLC9A9,3_prime_UTR_variant,,ENST00000474727,;	T	ENST00000316549	Transcript	missense_variant	646/3627	437/1938	146/645	A/E	gCa/gAa		1		-1	SLC9A9	HGNC	HGNC:20653	protein_coding	YES	CCDS33872.1	ENSP00000320246	Q8IVB4		UPI0000074664	NM_173653.3	deleterious(0)		3/16		Pfam_domain:PF00999,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF61,TIGRFAM_domain:TIGR00840,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1200091128	.												T	3	4	45	143796845	143796845	G	T	1	0	0	0	0	1	0	0	0	15003	1319	46	2		2	SLC9A9	3	143796845	Missense_Mutation	SNP	G	C3N-00293_TP	1327373	143796845	54498714	77	13251											
P2RY13	0	.	GRCh38	chr3	151328140	151328140	+	Frame_Shift_Del	DEL	C	C	-																															catacaaatgttagttgctgCcaaaaagagagttgtttctt																								novel		C3N-00293_TP	C3N-00293_NB	C	C																c.916delG	p.Ala306GlnfsTer10	p.A306Qfs*10	ENST00000325602	2/2	172	155	17	80	80	0	sindel-varindel-pindel	P2RY13,frameshift_variant,p.Ala306GlnfsTer10,ENST00000325602,NM_176894.2;MED12L,intron_variant,,ENST00000474524,NM_053002.5;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000491549,;MED12L,intron_variant,,ENST00000468305,;	-	ENST00000325602	Transcript	frameshift_variant	936/2764	916/1065	306/354	A/X	Gca/ca		1		-1	P2RY13	HGNC	HGNC:4537	protein_coding	YES	CCDS3158.2	ENSP00000320376	Q9BPV8		UPI000020A470	NM_176894.2			2/2		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF10,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	45	151328140	151328140	C	-	1	0	1	0	1	0	0	0	0	11423	739	26	0		0	P2RY13	3	151328140	Frame_Shift_Del	DEL	C	C3N-00293_TP	7531295	151328140	46967419	78	13252											
MED12L	0	.	GRCh38	chr3	151365044	151365044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcaaattcgaacttgcGatgggatccagacttcatga	11	10	10	10	2	1	2	1	1	0	1	3	5	2	3	2	1	3	1	2	1	2	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.2918G>T	p.Arg973Leu	p.R973L	ENST00000474524	20/43	389	344	45	279	279	0	strelka-varscan-mutect	MED12L,missense_variant,p.Arg973Leu,ENST00000474524,NM_053002.5;MED12L,missense_variant,p.Arg833Leu,ENST00000273432,;P2RY12,intron_variant,,ENST00000302632,NM_176876.2,NM_022788.4;	T	ENST00000474524	Transcript	missense_variant	2956/10744	2918/6438	973/2145	R/L	cGa/cTa		1		1	MED12L	HGNC	HGNC:16050	protein_coding	YES	CCDS33876.1	ENSP00000417235	Q86YW9		UPI000020A46B	NM_053002.5	tolerated(0.76)		20/43		hmmpanther:PTHR13992:SF22,hmmpanther:PTHR13992																	MODERATE	1	SNV	1			1										PASS		rs1415187136	.												T	3	4	45	151365044	151365044	G	T	1	0	0	0	0	1	0	0	0	9368	1058	37	1		1	MED12L	3	151365044	Missense_Mutation	SNP	G	C3N-00293_TP	36904	151365044	46930515	79	13253											
NAALADL2	0	.	GRCh38	chr3	175463432	175463432	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcatgcaagttcagacAgtcacaaaattgaaaacagt	17	8	8	8	0	3	2	3	1	0	1	3	2	3	2	0	0	3	3	0	0	5	2	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.1266A>T	p.=	p.T422T	ENST00000454872	7/14	225	209	16	114	114	0	strelka-varscan-mutect	NAALADL2,synonymous_variant,p.=,ENST00000454872,NM_207015.2;NAALADL2,non_coding_transcript_exon_variant,,ENST00000473253,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000489299,;NAALADL2,3_prime_UTR_variant,,ENST00000414826,;	T	ENST00000454872	Transcript	synonymous_variant	1394/9865	1266/2388	422/795	T	acA/acT		1		1	NAALADL2	HGNC	HGNC:23219	protein_coding	YES	CCDS46960.1	ENSP00000404705	Q58DX5		UPI0000161608	NM_207015.2			7/14		Low_complexity_(Seg):seg,hmmpanther:PTHR10404:SF32,hmmpanther:PTHR10404,Gene3D:3.40.630.10,Superfamily_domains:SSF52025,Superfamily_domains:SSF53187																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	45	175463432	175463432	A	T	1	0	0	0	0	0	0	0	1	10134	175	7	4		4	NAALADL2	3	175463432	Silent	SNP	A	C3N-00293_TP	24098388	175463432	22832127	80	13254											
SLC26A1	0	.	GRCh38	chr4	989760	989760	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagggcggcgctggtggcGaagcagtggaggaaggcggg	7	3	23	8	4	0	0	0	0	0	0	0	3	0	2	1	8	1	2	1	8	2	0	rs771840183		C3N-00293_TP	C3N-00293_NB	G	G																c.1179C>T	p.=	p.F393F	ENST00000361661	4/4	372	348	24	237	237	0	strelka-varscan-mutect	SLC26A1,synonymous_variant,p.=,ENST00000361661,NM_213613.3;SLC26A1,synonymous_variant,p.=,ENST00000398516,NM_022042.3;IDUA,intron_variant,,ENST00000247933,NM_000203.4;SLC26A1,intron_variant,,ENST00000398520,NM_134425.2;SLC26A1,intron_variant,,ENST00000622731,;IDUA,intron_variant,,ENST00000502910,;IDUA,intron_variant,,ENST00000504568,;IDUA,upstream_gene_variant,,ENST00000509948,;IDUA,upstream_gene_variant,,ENST00000514192,;DGKQ,upstream_gene_variant,,ENST00000510286,;IDUA,downstream_gene_variant,,ENST00000509744,;SLC26A1,downstream_gene_variant,,ENST00000513138,;IDUA,intron_variant,,ENST00000514698,;IDUA,intron_variant,,ENST00000506561,;IDUA,intron_variant,,ENST00000508168,;	A	ENST00000361661	Transcript	synonymous_variant	1557/3660	1179/2106	393/701	F	ttC/ttT	rs771840183,COSM4653858	1		-1	SLC26A1	HGNC	HGNC:10993	protein_coding	YES	CCDS33934.1	ENSP00000354721	Q9H2B4		UPI000013D9D4	NM_213613.3			4/4		Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF31,TIGRFAM_domain:TIGR00815,Transmembrane_helices:TMhelix											0,1						LOW	1	SNV	1		0,1	1										PASS		rs771840183	.												A	2	1	45	989760	989760	G	A	1	0	0	0	0	0	0	0	1	14784	1049	37	1		1	SLC26A1	4	989760	Silent	SNP	G	C3N-00293_TP		989760	189224795	81	13255											
CRIPAK	0	.	GRCh38	chr4	1394857	1394857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccatgtggagtgcccGcctgctcacacgtgccgatg	5	8	13	15	4	1	0	1	0	0	0	1	2	1	1	4	1	4	1	4	1	0	0	rs763178753		C3N-00293_TP	C3N-00293_NB	G	G																c.346G>T	p.Ala116Ser	p.A116S	ENST00000324803	1/1	933	878	55	679	679	0	varscan-mutect	CRIPAK,missense_variant,p.Ala116Ser,ENST00000324803,NM_175918.3;	T	ENST00000324803	Transcript	missense_variant	3306/4438	346/1341	116/446	A/S	Gcc/Tcc	rs763178753,COSM3010975	1		1	CRIPAK	HGNC	HGNC:26619	protein_coding	YES	CCDS3349.1	ENSP00000323978	Q8N1N5		UPI0000070390	NM_175918.3	tolerated(0.46)		1/1		SMART_domains:SM00508											0,1						MODERATE	1	SNV			0,1	1										PASS		rs763178753	.												T	3	4	45	1394857	1394857	G	T	1	0	0	0	0	1	0	0	0	3678	1087	38	1		1	CRIPAK	4	1394857	Missense_Mutation	SNP	G	C3N-00293_TP	405097	1394857	188819698	82	13256											
LCORL	0	.	GRCh38	chr4	17886127	17886127	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactcttcagattttatgctGgttttctttgtagagagatc	8	18	9	6	0	3	3	1	0	2	3	4	5	3	3	0	1	1	3	0	1	2	7	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.717C>G	p.=	p.T239T	ENST00000382226	6/7	182	165	17	111	111	0	strelka-varscan-mutect	LCORL,synonymous_variant,p.=,ENST00000635767,;LCORL,synonymous_variant,p.=,ENST00000326877,NM_153686.7;LCORL,synonymous_variant,p.=,ENST00000382226,NM_001166139.1;LCORL,synonymous_variant,p.=,ENST00000382224,;LCORL,non_coding_transcript_exon_variant,,ENST00000510121,;LCORL,3_prime_UTR_variant,,ENST00000637787,;LCORL,intron_variant,,ENST00000510451,;	C	ENST00000382226	Transcript	synonymous_variant	826/5009	717/1809	239/602	T	acC/acG		1		-1	LCORL	HGNC	HGNC:30776	protein_coding	YES	CCDS54749.1	ENSP00000371661	Q8N3X6		UPI00015E0F98	NM_001166139.1			6/7		hmmpanther:PTHR21545,hmmpanther:PTHR21545:SF10,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	45	17886127	17886127	G	C	1	0	0	0	0	0	0	0	1	8596	1335	47	4		4	LCORL	4	17886127	Silent	SNP	G	C3N-00293_TP	16491270	17886127	172328428	83	13257											
KCTD8	0	.	GRCh38	chr4	44175133	44175133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctctgaatggctgtcaCaactggaagtggagagctca	10	10	12	9	0	3	2	2	1	1	1	3	4	3	3	1	3	3	2	1	3	3	1	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1079G>C	p.Cys360Ser	p.C360S	ENST00000360029	2/2	124	115	9	112	112	0	strelka-varscan-mutect	KCTD8,missense_variant,p.Cys360Ser,ENST00000360029,NM_198353.2;KCTD8,missense_variant,p.Cys96Ser,ENST00000515268,;	G	ENST00000360029	Transcript	missense_variant	1363/2587	1079/1422	360/473	C/S	tGt/tCt		1		-1	KCTD8	HGNC	HGNC:22394	protein_coding	YES	CCDS3467.1	ENSP00000353129	Q6ZWB6		UPI00001C08D6	NM_198353.2	tolerated(1)		2/2																			MODERATE	1	SNV	1			1										PASS		rs1173087794	.												G	3	3	45	44175133	44175133	C	G	1	0	0	0	0	1	0	0	0	8032	478	17	4		4	KCTD8	4	44175133	Missense_Mutation	SNP	C	C3N-00293_TP	26289006	44175133	146039422	84	13258											
GABRA4	0	.	GRCh38	chr4	46965075	46965075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccatttgaatattggtGaaatagttgacagcagcaaa	14	14	8	5	0	0	3	0	3	0	0	1	3	1	3	1	1	2	3	1	1	5	7	rs866970927		C3N-00293_TP	C3N-00293_NB	G	G																c.1029C>A	p.Phe343Leu	p.F343L	ENST00000264318	8/9	213	193	20	158	157	1	strelka-varscan-mutect	GABRA4,missense_variant,p.Phe343Leu,ENST00000264318,NM_000809.3,NM_001204266.1;GABRA4,3_prime_UTR_variant,,ENST00000508560,;GABRA4,3_prime_UTR_variant,,ENST00000511523,;	T	ENST00000264318	Transcript	missense_variant	2012/11973	1029/1665	343/554	F/L	ttC/ttA	rs866970927	1		-1	GABRA4	HGNC	HGNC:4078	protein_coding	YES	CCDS3473.1	ENSP00000264318	P48169	X5D7F5	UPI0000074200	NM_000809.3,NM_001204266.1	deleterious(0.03)		8/9		Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF393,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Gene3D:1.20.58.390,Superfamily_domains:SSF90112																	MODERATE	1	SNV	1			1										PASS		rs866970927	.												T	3	4	45	46965075	46965075	G	T	1	0	0	0	0	1	0	0	0	6034	1281	45	2		2	GABRA4	4	46965075	Missense_Mutation	SNP	G	C3N-00293_TP	2789942	46965075	143249480	85	13259											
KDR	0	.	GRCh38	chr4	55094858	55094858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacaaatccagagctggctGagctctggctactggtgatg	9	9	12	11	0	1	3	0	2	1	1	2	3	2	3	2	3	3	4	2	3	2	1			C3N-00293_TP	C3N-00293_NB	G	G																c.2915C>T	p.Ser972Leu	p.S972L	ENST00000263923	21/30	365	343	22	280	280	0	strelka-varscan-mutect	KDR,missense_variant,p.Ser972Leu,ENST00000263923,NM_002253.2;RP11-530I17.1,downstream_gene_variant,,ENST00000511222,;KDR,non_coding_transcript_exon_variant,,ENST00000509309,;	A	ENST00000263923	Transcript	missense_variant	3211/5831	2915/4071	972/1356	S/L	tCa/tTa	COSM3775894	1		-1	KDR	HGNC	HGNC:6307	protein_coding	YES	CCDS3497.1	ENSP00000263923	P35968	A0A024RD88	UPI000003AE04	NM_002253.2	tolerated(0.46)		21/30		Pfam_domain:PF07714,PROSITE_profiles:PS50011,Low_complexity_(Seg):seg,SMART_domains:SM00219											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	45	55094858	55094858	G	A	1	0	0	0	0	1	0	0	0	8059	1294	45	3		3	KDR	4	55094858	Missense_Mutation	SNP	G	C3N-00293_TP	8129783	55094858	135119697	86	13260											
UGT2B28	0	.	GRCh38	chr4	69281030	69281030	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtctctgcttcactcctgGctacacaattgaaaggcaca	11	10	7	13	0	2	1	1	1	1	0	4	1	3	1	1	2	2	3	1	2	3	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.530G>C	p.Gly177Ala	p.G177A	ENST00000335568	1/6	146	124	22	92	92	0	strelka-varscan-mutect	UGT2B28,missense_variant,p.Gly177Ala,ENST00000335568,NM_053039.1;UGT2B28,missense_variant,p.Gly177Ala,ENST00000511240,NM_001207004.1;	C	ENST00000335568	Transcript	missense_variant	532/1833	530/1590	177/529	G/A	gGc/gCc		1		1	UGT2B28	HGNC	HGNC:13479	protein_coding	YES	CCDS3528.1	ENSP00000334276	Q9BY64		UPI0000137A9F	NM_053039.1	tolerated(0.16)		1/6		Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF365,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	69281030	69281030	G	C	1	0	0	0	0	1	0	0	0	17484	1203	42	4		4	UGT2B28	4	69281030	Missense_Mutation	SNP	G	C3N-00293_TP	14186172	69281030	120933525	87	13261											
OPRPN	0	.	GRCh38	chr4	70409797	70409797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atacaacaatcaccacaaatCcccccaccactgcaacagca	17	4	2	18	0	1	0	1	0	0	0	2	0	2	0	5	0	5	2	5	0	5	1	rs753759585		C3N-00293_TP	C3N-00293_NB	C	C																c.469C>T	p.Pro157Ser	p.P157S	ENST00000399575	3/3	133	120	13	85	85	0	strelka-varscan-mutect	OPRPN,missense_variant,p.Pro157Ser,ENST00000399575,NM_021225.4;OPRPN,non_coding_transcript_exon_variant,,ENST00000514338,;OPRPN,non_coding_transcript_exon_variant,,ENST00000505023,;	T	ENST00000399575	Transcript	missense_variant	643/1040	469/747	157/248	P/S	Ccc/Tcc	rs753759585,COSM4496182	1		1	OPRPN	HGNC	HGNC:17279	protein_coding	YES	CCDS43235.1	ENSP00000382485	Q99935		UPI000020BE52	NM_021225.4	tolerated_low_confidence(0.36)		3/3		hmmpanther:PTHR14179,hmmpanther:PTHR14179:SF8,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs753759585	.												T	3	4	45	70409797	70409797	C	T	1	0	0	0	0	1	0	0	0	10963	855	30	3		3	OPRPN	4	70409797	Missense_Mutation	SNP	C	C3N-00293_TP	1128767	70409797	119804758	88	13262											
SLC4A4	0	.	GRCh38	chr4	71453534	71453534	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacataaagaggaaagcGccattttttgccagtgattt	15	11	9	6	1	0	3	0	1	0	2	0	4	0	4	2	1	2	0	2	1	4	5	rs754788772		C3N-00293_TP	C3N-00293_NB	G	G																c.1362G>A	p.=	p.A454A	ENST00000425175	12/25	301	282	19	186	186	0	strelka-varscan-mutect	SLC4A4,synonymous_variant,p.=,ENST00000340595,NM_003759.3;SLC4A4,synonymous_variant,p.=,ENST00000425175,NM_001134742.1;SLC4A4,synonymous_variant,p.=,ENST00000264485,NM_001098484.2;SLC4A4,synonymous_variant,p.=,ENST00000351898,;SLC4A4,synonymous_variant,p.=,ENST00000512686,;SLC4A4,non_coding_transcript_exon_variant,,ENST00000514331,;	A	ENST00000425175	Transcript	synonymous_variant	1479/7596	1362/3285	454/1094	A	gcG/gcA	rs754788772,COSM1057182,COSM1057183	1		1	SLC4A4	HGNC	HGNC:11030	protein_coding	YES	CCDS47071.1	ENSP00000393557	Q9Y6R1	A5JJ20	UPI000152897D	NM_001134742.1			12/25		Gene3D:1bzkA00,Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF10,TIGRFAM_domain:TIGR00834											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs754788772	.												A	2	1	45	71453534	71453534	G	A	1	0	0	0	0	0	0	0	1	14933	1074	38	1		1	SLC4A4	4	71453534	Silent	SNP	G	C3N-00293_TP	1043737	71453534	118761021	89	13263											
MMRN1	0	.	GRCh38	chr4	89895250	89895250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaagtgcacctgctgaGggtgtgagaaatcaaactct	14	8	11	8	0	2	2	1	2	1	1	2	4	2	2	1	1	4	2	1	1	4	0	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.279G>T	p.Glu93Asp	p.E93D	ENST00000394980	2/9	331	297	34	232	232	0	strelka-varscan-mutect	MMRN1,missense_variant,p.Glu93Asp,ENST00000394980,;MMRN1,missense_variant,p.Glu93Asp,ENST00000264790,NM_007351.2;	T	ENST00000394980	Transcript	missense_variant	598/5217	279/3687	93/1228	E/D	gaG/gaT		1		1	MMRN1	HGNC	HGNC:7178	protein_coding	YES	CCDS3635.1	ENSP00000378431	Q13201		UPI000013D570		tolerated_low_confidence(0.1)		2/9		hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	45	89895250	89895250	G	T	1	0	0	0	0	1	0	0	0	9633	991	35	2		2	MMRN1	4	89895250	Missense_Mutation	SNP	G	C3N-00293_TP	18441716	89895250	100319305	90	13264											
RP11-766F14.2	0	.	GRCh38	chr4	99653318	99653318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcttgtagggctgggcGtccgggtggtgttggtgctg	1	12	20	8	3	0	0	0	0	0	0	1	0	1	0	1	5	2	6	1	5	1	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1331C>A	p.Thr444Lys	p.T444K	ENST00000511828	1/2	93	88	5	57	57	0	strelka-mutect	RP11-766F14.2,missense_variant,p.Thr444Lys,ENST00000511828,;	T	ENST00000511828	Transcript	missense_variant	1331/10086	1331/5382	444/1793	T/K	aCg/aAg		1		-1	RP11-766F14.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000427555		D6RIA3	UPI0001D3B6FE		deleterious_low_confidence(0.01)		1/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	99653318	99653318	G	T	1	0	0	0	0	1	0	0	0	13762	1145	40	1		1	RP11-766F14.2	4	99653318	Missense_Mutation	SNP	G	C3N-00293_TP	9758068	99653318	90561237	91	13265											
NDST4	0	.	GRCh38	chr4	114845871	114845871	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtcaatgaggatggtgatGatcttggctttggggacaag	9	11	17	4	0	2	3	1	3	1	0	2	5	2	5	0	6	0	1	0	6	2	2	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.2067C>G	p.Ile689Met	p.I689M	ENST00000264363	10/14	236	207	29	173	173	0	strelka-varscan-mutect	NDST4,missense_variant,p.Ile310Met,ENST00000613194,;NDST4,missense_variant,p.Ile689Met,ENST00000264363,NM_022569.1;NDST4,missense_variant,p.Ile310Met,ENST00000504854,;	C	ENST00000264363	Transcript	missense_variant	2746/3351	2067/2619	689/872	I/M	atC/atG		1		-1	NDST4	HGNC	HGNC:20779	protein_coding	YES	CCDS3706.1	ENSP00000264363	Q9H3R1		UPI000006CED7	NM_022569.1	deleterious(0)		10/14		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF45,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	114845871	114845871	G	C	1	0	0	0	0	1	0	0	0	10279	1280	45	4		4	NDST4	4	114845871	Missense_Mutation	SNP	G	C3N-00293_TP	15192553	114845871	75368684	92	13266											
ANXA10	0	.	GRCh38	chr4	168184637	168184637	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgctgaccataaggaaaCgatacaaagagcgatatgga	17	6	10	8	2	0	2	0	1	0	1	0	6	0	4	2	2	4	1	2	2	5	3	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.862C>G	p.Arg288Gly	p.R288G	ENST00000359299	11/12	203	191	12	124	124	0	strelka-varscan-mutect	ANXA10,missense_variant,p.Arg288Gly,ENST00000359299,NM_007193.4;ANXA10,non_coding_transcript_exon_variant,,ENST00000507278,;	G	ENST00000359299	Transcript	missense_variant	1048/1417	862/975	288/324	R/G	Cga/Gga		1		1	ANXA10	HGNC	HGNC:534	protein_coding	YES	CCDS34096.1	ENSP00000352248	Q9UJ72		UPI0000169E98	NM_007193.4	deleterious(0.05)		11/12		hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF100,Gene3D:1.10.220.10,Pfam_domain:PF00191,SMART_domains:SM00335,Superfamily_domains:SSF47874																	MODERATE	1	SNV	1			1										PASS		rs1192134579	.												G	3	3	45	168184637	168184637	C	G	1	0	0	0	0	1	0	0	0	822	528	19	4		4	ANXA10	4	168184637	Missense_Mutation	SNP	C	C3N-00293_TP	53338766	168184637	22029918	93	13267											
TENM3	0	.	GRCh38	chr4	182673160	182673160	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaattcaatatctctcttCagaaggatgcattgattgga	13	15	7	6	0	4	2	2	1	2	1	5	4	4	4	0	2	1	1	0	2	5	6	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1267C>T	p.Gln423Ter	p.Q423*	ENST00000511685	7/28	274	252	22	159	159	0	strelka-varscan-mutect	TENM3,stop_gained,p.Gln423Ter,ENST00000511685,NM_001080477.2;	T	ENST00000511685	Transcript	stop_gained	1390/10896	1267/8100	423/2699	Q/*	Cag/Tag		1		1	TENM3	HGNC	HGNC:29944	protein_coding	YES	CCDS47165.1	ENSP00000424226	Q9P273	A0A140VJW8	UPI00006C0820	NM_001080477.2			7/28		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	45	182673160	182673160	C	T	1	0	0	0	0	0	1	0	0	16173	827	29	3		3	TENM3	4	182673160	Nonsense_Mutation	SNP	C	C3N-00293_TP	14488523	182673160	7541395	94	13268											
ADAMTS16	0	.	GRCh38	chr5	5239205	5239205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgttgaagacgtctgtgggGtgtgtaacgggaataactca	10	11	14	6	2	2	2	1	1	1	1	2	3	2	3	0	3	2	2	0	3	4	3	rs566228851		C3N-00293_TP	C3N-00293_NB	G	G																c.2209G>T	p.Val737Leu	p.V737L	ENST00000274181	15/23	58	54	4	45	45	0	strelka-mutect	ADAMTS16,missense_variant,p.Val737Leu,ENST00000274181,NM_139056.2;ADAMTS16,downstream_gene_variant,,ENST00000513709,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	T	ENST00000274181	Transcript	missense_variant	2347/4979	2209/3675	737/1224	V/L	Gtg/Ttg	rs566228851	1		1	ADAMTS16	HGNC	HGNC:17108	protein_coding	YES	CCDS43299.1	ENSP00000274181	Q8TE57		UPI00004572CA	NM_139056.2	deleterious(0)		15/23		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140,Prints_domain:PR01857																	MODERATE	1	SNV	2			1										PASS		rs566228851	.												T	3	4	45	5239205	5239205	G	T	1	0	0	0	0	1	0	0	0	305	1261	44	2		2	ADAMTS16	5	5239205	Missense_Mutation	SNP	G	C3N-00293_TP		5239205	176299054	95	13269											
ICE1	0	.	GRCh38	chr5	5464447	5464447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctccatctgcagcttcaGccagtgagagggtagtgccg	8	9	12	12	1	3	1	1	1	2	1	4	2	3	1	3	1	4	3	3	1	1	2	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.5113G>T	p.Ala1705Ser	p.A1705S	ENST00000296564	13/19	367	322	45	261	261	0	strelka-varscan-mutect	ICE1,missense_variant,p.Ala1705Ser,ENST00000296564,NM_015325.2;	T	ENST00000296564	Transcript	missense_variant	5335/7927	5113/6801	1705/2266	A/S	Gcc/Tcc		1		1	ICE1	HGNC	HGNC:29154	protein_coding	YES	CCDS47187.1	ENSP00000296564	Q9Y2F5		UPI00015542F9	NM_015325.2	deleterious(0.02)		13/19		Low_complexity_(Seg):seg,hmmpanther:PTHR11852:SF4,hmmpanther:PTHR11852																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	5464447	5464447	G	T	1	0	0	0	0	1	0	0	0	7384	971	34	2		2	ICE1	5	5464447	Missense_Mutation	SNP	G	C3N-00293_TP	225242	5464447	176073812	96	13270											
ADCY2	0	.	GRCh38	chr5	7414703	7414703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcttctcgttggtgatatGgatatgccttgttgccatgg	5	16	11	9	1	2	1	0	1	2	0	3	2	2	2	3	3	2	2	3	3	2	6	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.341G>T	p.Trp114Leu	p.W114L	ENST00000338316	2/25	313	279	34	219	219	0	strelka-varscan-mutect	ADCY2,missense_variant,p.Trp114Leu,ENST00000338316,NM_020546.2;ADCY2,non_coding_transcript_exon_variant,,ENST00000498598,;ADCY2,non_coding_transcript_exon_variant,,ENST00000484965,;	T	ENST00000338316	Transcript	missense_variant	430/6575	341/3276	114/1091	W/L	tGg/tTg		1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2	deleterious(0.02)		2/25		Pfam_domain:PF16214,PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	7414703	7414703	G	T	1	0	0	0	0	1	0	0	0	338	1357	47	2		2	ADCY2	5	7414703	Missense_Mutation	SNP	G	C3N-00293_TP	1950256	7414703	174123556	97	13271											
BASP1	0	.	GRCh38	chr5	17275496	17275496	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgagaagacggagggcgcgGcagaggccaaggctgagccc	10	1	18	12	4	0	4	0	1	0	3	0	6	0	5	3	5	1	2	3	5	2	0	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.280G>C	p.Ala94Pro	p.A94P	ENST00000322611	2/2	63	56	7	34	34	0	strelka-mutect	BASP1,missense_variant,p.Ala94Pro,ENST00000322611,NM_006317.4;BASP1,missense_variant,p.Ala94Pro,ENST00000616743,NM_001271606.1;BASP1,downstream_gene_variant,,ENST00000606445,;	C	ENST00000322611	Transcript	missense_variant	540/1878	280/684	94/227	A/P	Gca/Cca		1		1	BASP1	HGNC	HGNC:957	protein_coding	YES	CCDS3888.1	ENSP00000319281	P80723		UPI0000140E98	NM_006317.4	tolerated(0.06)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR23212,hmmpanther:PTHR23212:SF0,Pfam_domain:PF05466																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	17275496	17275496	G	C	1	0	0	0	0	1	0	0	0	1469	1203	42	4		4	BASP1	5	17275496	Missense_Mutation	SNP	G	C3N-00293_TP	9860793	17275496	164262763	98	13272											
TARS	0	.	GRCh38	chr5	33461290	33461290	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgaagtatgggatcaagctGagaaagtaagtggtgttttt	12	13	13	3	1	1	1	1	1	0	1	2	4	1	2	0	2	1	4	0	2	5	4	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1645G>C	p.Glu549Gln	p.E549Q	ENST00000455217	14/20	105	90	15	53	53	0	varscan-mutect	TARS,missense_variant,p.Glu516Gln,ENST00000265112,NM_152295.4;TARS,missense_variant,p.Glu516Gln,ENST00000502553,NM_001258437.1;TARS,missense_variant,p.Glu549Gln,ENST00000455217,NM_001258438.1;TARS,non_coding_transcript_exon_variant,,ENST00000509410,;TARS,3_prime_UTR_variant,,ENST00000508361,;TARS,3_prime_UTR_variant,,ENST00000507716,;TARS,3_prime_UTR_variant,,ENST00000509731,;TARS,downstream_gene_variant,,ENST00000504698,;	C	ENST00000455217	Transcript	missense_variant	1767/2523	1645/2271	549/756	E/Q	Gag/Cag		1		1	TARS	HGNC	HGNC:11572	protein_coding	YES	CCDS58943.1	ENSP00000387710	P26639		UPI00017A6D60	NM_001258438.1	deleterious(0)		14/20		PROSITE_profiles:PS50862,HAMAP:MF_00184,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF36,TIGRFAM_domain:TIGR00418,Gene3D:3.30.930.10,Pfam_domain:PF00587,Superfamily_domains:SSF55681																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	45	33461290	33461290	G	C	1	0	0	0	0	1	0	0	0	15958	1304	45	4		4	TARS	5	33461290	Missense_Mutation	SNP	G	C3N-00293_TP	16185794	33461290	148076969	99	13273											
IL7R	0	.	GRCh38	chr5	35860950	35860950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactgacctgtgcttttgagGacccagatgtcaacatcacc	10	10	8	13	0	2	3	2	2	0	1	2	4	2	4	3	1	2	1	3	1	1	2	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.181G>A	p.Asp61Asn	p.D61N	ENST00000303115	2/8	464	435	29	311	311	0	strelka-varscan-mutect	IL7R,missense_variant,p.Asp61Asn,ENST00000303115,NM_002185.3;IL7R,missense_variant,p.Asp61Asn,ENST00000506850,;IL7R,missense_variant,p.Asp61Asn,ENST00000511982,;IL7R,downstream_gene_variant,,ENST00000508941,;IL7R,downstream_gene_variant,,ENST00000515665,;IL7R,non_coding_transcript_exon_variant,,ENST00000511031,;IL7R,missense_variant,p.Asp61Asn,ENST00000514217,;	A	ENST00000303115	Transcript	missense_variant	310/4626	181/1380	61/459	D/N	Gac/Aac		1		1	IL7R	HGNC	HGNC:6024	protein_coding	YES	CCDS3911.1	ENSP00000306157	P16871		UPI000013E861	NM_002185.3	tolerated(0.06)		2/8		hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF27																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	35860950	35860950	G	A	1	0	0	0	0	1	0	0	0	7609	1174	41	3		3	IL7R	5	35860950	Missense_Mutation	SNP	G	C3N-00293_TP	2399660	35860950	145677309	100	13274											
BDP1	0	.	GRCh38	chr5	71510933	71510933	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttgaagaaatggaggcaGatttgaaagaaactggaaaa	18	9	12	2	0	0	5	0	2	0	3	0	7	0	7	0	3	1	2	0	3	6	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.3841G>C	p.Asp1281His	p.D1281H	ENST00000358731	17/39	334	317	17	177	177	0	strelka-varscan-mutect	BDP1,missense_variant,p.Asp1281His,ENST00000358731,NM_018429.2;BDP1,downstream_gene_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,;	C	ENST00000358731	Transcript	missense_variant	4104/11073	3841/7875	1281/2624	D/H	Gat/Cat		1		1	BDP1	HGNC	HGNC:13652	protein_coding	YES	CCDS43328.1	ENSP00000351575	A6H8Y1		UPI000020CA90	NM_018429.2	tolerated(0.06)		17/39		hmmpanther:PTHR22929:SF1,hmmpanther:PTHR22929																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	71510933	71510933	G	C	1	0	0	0	0	1	0	0	0	1542	942	33	4		4	BDP1	5	71510933	Missense_Mutation	SNP	G	C3N-00293_TP	35649983	71510933	110027326	101	13275											
PPIP5K2	0	.	GRCh38	chr5	103186440	103186440	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcttctggctgcatagatgGtatgtgcacacatgcacaca	10	11	9	11	0	2	1	0	0	2	1	2	1	2	1	0	2	3	5	0	2	2	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.3334+1G>T		p.X1112_splice	ENST00000627916		219	191	28	184	184	0	strelka-varscan-mutect	PPIP5K2,splice_donor_variant,,ENST00000321521,;PPIP5K2,splice_donor_variant,,ENST00000627916,NM_001281471.1;PPIP5K2,splice_donor_variant,,ENST00000414217,NM_015216.3;PPIP5K2,splice_donor_variant,,ENST00000358359,NM_001276277.1;PPIP5K2,splice_donor_variant,,ENST00000613674,;PPIP5K2,splice_donor_variant,,ENST00000511022,;PPIP5K2,intron_variant,,ENST00000509597,;PPIP5K2,intron_variant,,ENST00000613907,;PPIP5K2,splice_donor_variant,,ENST00000511724,;PPIP5K2,intron_variant,,ENST00000510672,;	T	ENST00000627916	Transcript	splice_donor_variant	-/6010	3334/3837	1112/1278				1		1	PPIP5K2	HGNC	HGNC:29035	protein_coding	YES	CCDS75283.1	ENSP00000486357		A0A087WZV0	UPI0002840889	NM_001281471.1				27/31																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	45	103186440	103186440	G	T	1	0	0	0	0	0	0	1	0	12443	1275	44	2		2	PPIP5K2	5	103186440	Splice_Site	SNP	G	C3N-00293_TP	31675507	103186440	78351819	102	13276											
TSLP	0	.	GRCh38	chr5	111071918	111071918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgccttactatatgttCtgtcagtttctttcaggaaa	8	19	6	8	0	4	0	2	0	2	0	4	1	4	1	1	1	2	2	1	1	4	8	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.28C>A	p.Leu10Met	p.L10M	ENST00000344895	1/4	130	116	14	48	48	0	strelka-varscan-mutect	TSLP,missense_variant,p.Leu10Met,ENST00000344895,NM_033035.4;TSLP,splice_region_variant,,ENST00000420978,;TSLP,upstream_gene_variant,,ENST00000379706,NM_138551.4;	A	ENST00000344895	Transcript	missense_variant	227/736	28/480	10/159	L/M	Ctg/Atg		1		1	TSLP	HGNC	HGNC:30743	protein_coding	YES	CCDS4101.1	ENSP00000339804	Q969D9		UPI000006DB21	NM_033035.4	tolerated(0.08)		1/4		hmmpanther:PTHR38003																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	111071918	111071918	C	A	1	0	0	0	0	1	0	0	0	17133	912	32	2		2	TSLP	5	111071918	Missense_Mutation	SNP	C	C3N-00293_TP	7885478	111071918	70466341	103	13277											
LVRN	0	.	GRCh38	chr5	115992155	115992155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctagttttgacaaccatGcaatggaaaactggggacta	13	10	10	8	0	0	1	0	1	0	0	0	3	0	3	2	3	4	2	2	3	6	4	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1138G>T	p.Ala380Ser	p.A380S	ENST00000357872	5/20	323	282	41	155	154	1	strelka-varscan-mutect	LVRN,missense_variant,p.Ala380Ser,ENST00000357872,NM_173800.4;LVRN,missense_variant,p.Ala368Ser,ENST00000395528,;LVRN,missense_variant,p.Ala380Ser,ENST00000504467,;LVRN,upstream_gene_variant,,ENST00000503329,;LVRN,upstream_gene_variant,,ENST00000514509,;LVRN,upstream_gene_variant,,ENST00000512314,;	T	ENST00000357872	Transcript	missense_variant	1262/4581	1138/2973	380/990	A/S	Gca/Tca		1		1	LVRN	HGNC	HGNC:26904	protein_coding	YES	CCDS4124.1	ENSP00000350541	Q6Q4G3	A0A0A6YYA2	UPI0000457329	NM_173800.4	deleterious(0.01)		5/20		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF31,Pfam_domain:PF01433,Superfamily_domains:SSF55486,Prints_domain:PR00756																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	115992155	115992155	G	T	1	0	0	0	0	1	0	0	0	8998	1319	46	2		2	LVRN	5	115992155	Missense_Mutation	SNP	G	C3N-00293_TP	4920237	115992155	65546104	104	13278											
SEC24A	0	.	GRCh38	chr5	134661429	134661429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaacctgccaccacctttGaattggcaatataactatcc	12	10	5	14	0	0	1	0	1	0	0	1	1	1	1	6	1	3	1	6	1	6	5	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.408G>C	p.Leu136Phe	p.L136F	ENST00000398844	2/23	572	542	30	437	437	0	strelka-varscan-mutect	SEC24A,missense_variant,p.Leu136Phe,ENST00000398844,NM_021982.2;SEC24A,missense_variant,p.Leu136Phe,ENST00000322887,NM_001252231.1;	C	ENST00000398844	Transcript	missense_variant	696/6299	408/3282	136/1093	L/F	ttG/ttC		1		1	SEC24A	HGNC	HGNC:10703	protein_coding	YES	CCDS43363.1	ENSP00000381823	O95486		UPI0000185FF9	NM_021982.2	tolerated_low_confidence(0.07)		2/23		hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF1																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	45	134661429	134661429	G	C	1	0	0	0	0	1	0	0	0	14271	1281	45	4		4	SEC24A	5	134661429	Missense_Mutation	SNP	G	C3N-00293_TP	18669274	134661429	46876830	105	13279											
PCDHA1	0	.	GRCh38	chr5	140788509	140788509	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggcaagcccactctggTgtgctccagcgcgttgggga	5	7	16	13	3	1	0	0	0	1	0	2	1	2	1	3	4	3	3	3	4	1	1	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.2219T>A	p.Val740Glu	p.V740E	ENST00000504120	1/4	182	149	33	184	184	0	strelka-varscan-mutect	PCDHA1,missense_variant,p.Val740Glu,ENST00000504120,NM_018900.3;PCDHA1,missense_variant,p.Val740Glu,ENST00000378133,NM_031410.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,non_coding_transcript_exon_variant,,ENST00000624712,;AC005609.16,downstream_gene_variant,,ENST00000624176,;	A	ENST00000504120	Transcript	missense_variant	2219/5263	2219/2853	740/950	V/E	gTg/gAg		1		1	PCDHA1	HGNC	HGNC:8663	protein_coding	YES	CCDS54913.1	ENSP00000420840	Q9Y5I3		UPI00001273C7	NM_018900.3	deleterious_low_confidence(0)		1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	140788509	140788509	T	A	1	0	0	0	0	1	0	0	0	11606	1696	59	4		4	PCDHA1	5	140788509	Missense_Mutation	SNP	T	C3N-00293_TP	6127080	140788509	40749750	106	13280											
PCDHB10	0	.	GRCh38	chr5	141194143	141194143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggctttcgagttccgcGtgggcgccacagaccgcggc	5	7	15	14	6	0	1	0	0	0	1	2	2	1	1	3	3	1	3	3	3	0	2			C3N-00293_TP	C3N-00293_NB	G	G																c.1591G>A	p.Val531Met	p.V531M	ENST00000239446	1/1	469	437	32	377	377	0	varscan-mutect	PCDHB10,missense_variant,p.Val531Met,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,NM_019119.4;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.6,upstream_gene_variant,,ENST00000625144,;	A	ENST00000239446	Transcript	missense_variant	1791/3290	1591/2403	531/800	V/M	Gtg/Atg	COSM5663811	1		1	PCDHB10	HGNC	HGNC:8681	protein_coding	YES	CCDS4252.1	ENSP00000239446	Q9UN67		UPI0000048F2E	NM_018930.3	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF54,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205											1						MODERATE		SNV			1	1										PASS		.	.												A	3	1	45	141194143	141194143	G	A	1	0	0	0	0	1	0	0	0	11622	1145	40	1		1	PCDHB10	5	141194143	Missense_Mutation	SNP	G	C3N-00293_TP	405634	141194143	40344116	107	13281											
PCDHGA6	0	.	GRCh38	chr5	141375983	141375983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacggcgcgcgccctgctgGacagagacgcgctcaagcag	8	3	15	15	6	1	1	1	0	0	1	1	3	1	2	1	2	2	4	1	2	1	0	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1900G>T	p.Asp634Tyr	p.D634Y	ENST00000517434	1/4	514	450	64	384	384	0	strelka-varscan-mutect	PCDHGA6,missense_variant,p.Asp634Tyr,ENST00000610583,NM_032086.1;PCDHGA6,missense_variant,p.Asp634Tyr,ENST00000517434,NM_018919.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB3,downstream_gene_variant,,ENST00000618934,NM_032097.2;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000517434	Transcript	missense_variant	2070/4775	1900/2799	634/932	D/Y	Gac/Tac		1		1	PCDHGA6	HGNC	HGNC:8704	protein_coding	YES	CCDS54926.1	ENSP00000429601	Q9Y5G7		UPI00000715C8	NM_018919.2	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF107,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	141375983	141375983	G	T	1	0	0	0	0	1	0	0	0	11645	1174	41	2		2	PCDHGA6	5	141375983	Missense_Mutation	SNP	G	C3N-00293_TP	181840	141375983	40162276	108	13282											
PCDHGA1	0	.	GRCh38	chr5	141510977	141510977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggagctccaccctgggagGgggtgccggcaccatgggat	6	6	18	11	1	0	0	0	0	0	0	1	3	1	3	4	6	2	2	4	6	0	0	rs761149166		C3N-00293_TP	C3N-00293_NB	G	G																c.2693G>T	p.Gly898Val	p.G898V	ENST00000571252	4/4	375	352	23	307	307	0	varscan-mutect	PCDHGA4,missense_variant,p.Gly898Val,ENST00000571252,NM_018917.3;PCDHGA6,missense_variant,p.Gly868Val,ENST00000517434,NM_018919.2;PCDHGA3,missense_variant,p.Gly868Val,ENST00000253812,NM_018916.3;PCDHGB7,missense_variant,p.Gly865Val,ENST00000398594,NM_018927.3;PCDHGC5,missense_variant,p.Gly880Val,ENST00000252087,NM_018929.2;PCDHGA12,missense_variant,p.Gly868Val,ENST00000252085,NM_003735.2;PCDHGB3,missense_variant,p.Gly865Val,ENST00000576222,NM_018924.4;PCDHGC3,missense_variant,p.Gly870Val,ENST00000308177,NM_002588.3;PCDHGA11,missense_variant,p.Gly871Val,ENST00000398587,NM_018914.2;PCDHGC4,missense_variant,p.Gly874Val,ENST00000306593,NM_018928.2;PCDHGA10,missense_variant,p.Gly872Val,ENST00000398610,NM_018913.2;PCDHGA2,missense_variant,p.Gly868Val,ENST00000394576,NM_018915.3;PCDHGA8,missense_variant,p.Gly868Val,ENST00000398604,NM_032088.1;PCDHGA7,missense_variant,p.Gly868Val,ENST00000518325,NM_018920.3;PCDHGA9,missense_variant,p.Gly868Val,ENST00000573521,NM_018921.2;PCDHGA1,missense_variant,p.Gly867Val,ENST00000517417,NM_018912.2;PCDHGA5,missense_variant,p.Gly867Val,ENST00000518069,NM_018918.2;PCDHGB2,missense_variant,p.Gly867Val,ENST00000522605,NM_018923.2;PCDHGB6,missense_variant,p.Gly866Val,ENST00000520790,NM_018926.2;PCDHGB1,missense_variant,p.Gly863Val,ENST00000523390,NM_018922.2;PCDHGB4,missense_variant,p.Gly859Val,ENST00000519479,NM_003736.2;PCDHGB5,missense_variant,p.Gly859Val,ENST00000617380,NM_018925.2;PCDHGC3,missense_variant,p.Gly70Val,ENST00000617641,NM_032403.2;PCDHGA11,missense_variant,p.Gly686Val,ENST00000518882,NM_032092.1;PCDHGC4,missense_variant,p.Gly64Val,ENST00000618371,;PCDHGC3,missense_variant,p.Gly121Val,ENST00000617222,;DIAPH1,downstream_gene_variant,,ENST00000389054,NM_005219.4;DIAPH1,downstream_gene_variant,,ENST00000253811,;DIAPH1,downstream_gene_variant,,ENST00000398557,;DIAPH1,downstream_gene_variant,,ENST00000389057,;DIAPH1,downstream_gene_variant,,ENST00000518047,NM_001079812.2;DIAPH1,downstream_gene_variant,,ENST00000448451,;PCDHGC3,non_coding_transcript_exon_variant,,ENST00000622836,;PCDHGC3,downstream_gene_variant,,ENST00000622656,;PCDHGA3,3_prime_UTR_variant,,ENST00000612467,;DIAPH1,downstream_gene_variant,,ENST00000476339,;	T	ENST00000571252	Transcript	missense_variant	2776/4778	2693/2889	898/962	G/V	gGg/gTg	rs761149166	1		1	PCDHGA4	HGNC	HGNC:8702	protein_coding	YES	CCDS58979.2	ENSP00000458570		A0A087WT05	UPI0003583741	NM_018917.3	deleterious_low_confidence(0)		4/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF94,Pfam_domain:PF15974																	MODERATE	1	SNV	1			1										PASS		rs761149166	.												T	3	4	45	141510977	141510977	G	T	1	0	0	0	0	1	0	0	0	11637	1232	43	2		2	PCDHGA1	5	141510977	Missense_Mutation	SNP	G	C3N-00293_TP	134994	141510977	40027282	109	13283											
HTR4	0	.	GRCh38	chr5	148509567	148509567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagaggatgatgaggaagGcacgtctaaaagacttattc	15	8	12	6	1	1	4	0	2	1	2	2	6	1	6	0	3	1	2	0	3	4	3	rs761167553		C3N-00293_TP	C3N-00293_NB	G	G																c.965C>A	p.Ala322Asp	p.A322D	ENST00000360693	6/8	302	262	40	197	197	0	strelka-varscan-mutect	HTR4,missense_variant,p.Ala322Asp,ENST00000360693,;HTR4,missense_variant,p.Ala322Asp,ENST00000362016,NM_001040173.2;HTR4,missense_variant,p.Ala322Asp,ENST00000377888,NM_000870.6;HTR4,missense_variant,p.Ala322Asp,ENST00000521530,NM_001040169.2;HTR4,missense_variant,p.Ala322Asp,ENST00000521735,NM_199453.3;HTR4,missense_variant,p.Ala322Asp,ENST00000520514,NM_001286410.1;HTR4,missense_variant,p.Ala322Asp,ENST00000631296,;HTR4,missense_variant,p.Ala322Asp,ENST00000517929,NM_001040172.2;HTR4,missense_variant,p.Ala322Asp,ENST00000524063,;HTR4,missense_variant,p.Ala322Asp,ENST00000522588,;HTR4,non_coding_transcript_exon_variant,,ENST00000521124,;	T	ENST00000360693	Transcript	missense_variant	1104/3082	965/1287	322/428	A/D	gCc/gAc	rs761167553,COSM4905218,COSM4905219,COSM4905220,COSM4905221	1		-1	HTR4	HGNC	HGNC:5299	protein_coding	YES	CCDS34272.1	ENSP00000353915	Q13639		UPI00002323B1		deleterious(0)		6/8		hmmpanther:PTHR24249:SF33,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01059											0,1,1,1,1						MODERATE	1	SNV	5		0,1,1,1,1	1										PASS		rs761167553	.												T	3	4	45	148509567	148509567	G	T	1	0	0	0	0	1	0	0	0	7345	1203	42	2		2	HTR4	5	148509567	Missense_Mutation	SNP	G	C3N-00293_TP	6998590	148509567	33028692	110	13284											
SLC36A2	0	.	GRCh38	chr5	151342905	151342905	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttccccagtgagcgtgAttctggagccaggcgttggg	6	10	14	11	2	1	2	0	2	1	0	2	3	2	3	4	3	3	1	4	3	1	4	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.423T>C	p.=	p.N141N	ENST00000335244	4/10	464	436	28	395	395	0	strelka-varscan-mutect	SLC36A2,synonymous_variant,p.=,ENST00000335244,NM_181776.2;SLC36A2,synonymous_variant,p.=,ENST00000521967,;SLC36A2,synonymous_variant,p.=,ENST00000518617,;SLC36A2,synonymous_variant,p.=,ENST00000518280,;SLC36A2,non_coding_transcript_exon_variant,,ENST00000522829,;	G	ENST00000335244	Transcript	synonymous_variant	553/3421	423/1452	141/483	N	aaT/aaC		1		-1	SLC36A2	HGNC	HGNC:18762	protein_coding	YES	CCDS4315.1	ENSP00000334223	Q495M3		UPI000020D008	NM_181776.2			4/10		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF185																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	45	151342905	151342905	A	G	1	0	0	0	0	0	0	0	1	14872	330	12	5		5	SLC36A2	5	151342905	Silent	SNP	A	C3N-00293_TP	2833338	151342905	30195354	111	13285											
FAT2	0	.	GRCh38	chr5	151531735	151531735	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacctgcacgctgtgctcGgtgttcaggaacacgggcag	7	7	15	12	3	1	0	1	0	0	0	2	1	1	1	1	4	3	6	1	4	1	1	rs780126051		C3N-00293_TP	C3N-00293_NB	G	G																c.9663C>G	p.=	p.T3221T	ENST00000261800	13/23	452	409	43	335	335	0	strelka-varscan-mutect	FAT2,synonymous_variant,p.=,ENST00000261800,NM_001447.2;FAT2,synonymous_variant,p.=,ENST00000520200,;	C	ENST00000261800	Transcript	synonymous_variant	9676/14534	9663/13050	3221/4349	T	acC/acG	rs780126051	1		-1	FAT2	HGNC	HGNC:3596	protein_coding	YES	CCDS4317.1	ENSP00000261800	Q9NYQ8		UPI0000055B22	NM_001447.2			13/23		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs780126051	.												C	2	2	45	151531735	151531735	G	C	1	0	0	0	0	0	0	0	1	5550	1103	39	4		4	FAT2	5	151531735	Silent	SNP	G	C3N-00293_TP	188830	151531735	30006524	112	13286											
SPARC	0	.	GRCh38	chr5	151676167	151676167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccggccaggcaaaggaGaaagaagatccaggccctca	13	3	11	14	1	1	3	1	0	0	3	3	4	3	3	5	4	0	1	5	4	3	0	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.22C>A	p.Leu8Ile	p.L8I	ENST00000231061	2/10	244	223	21	216	216	0	strelka-varscan-mutect	SPARC,missense_variant,p.Leu8Ile,ENST00000231061,NM_001309444.1,NM_001309443.1,NM_003118.3;SPARC,missense_variant,p.Leu8Ile,ENST00000539687,;SPARC,missense_variant,p.Leu8Ile,ENST00000522348,;SPARC,intron_variant,,ENST00000521569,;SPARC,intron_variant,,ENST00000538026,;CTB-113P19.1,upstream_gene_variant,,ENST00000510576,;CTB-113P19.1,upstream_gene_variant,,ENST00000518905,;SPARC,non_coding_transcript_exon_variant,,ENST00000521327,;SPARC,upstream_gene_variant,,ENST00000524277,;	T	ENST00000231061	Transcript	missense_variant	336/3701	22/912	8/303	L/I	Ctc/Atc		1		-1	SPARC	HGNC	HGNC:11219	protein_coding	YES	CCDS4318.1	ENSP00000231061	P09486		UPI0000040638	NM_001309444.1,NM_001309443.1,NM_003118.3	deleterious_low_confidence(0.03)		2/10		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR13866,hmmpanther:PTHR13866:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	151676167	151676167	G	T	1	0	0	0	0	1	0	0	0	15326	942	33	2		2	SPARC	5	151676167	Missense_Mutation	SNP	G	C3N-00293_TP	144432	151676167	29862092	113	13287											
GEMIN5	0	.	GRCh38	chr5	154913039	154913039	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagactcagggctgctctCtaaaaggcaaaggaaagaca	15	6	12	8	0	2	2	1	0	1	2	3	4	2	3	0	4	1	3	0	4	4	1	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1856-1G>C		p.X619_splice	ENST00000285873		139	131	8	103	103	0	strelka-varscan-mutect	GEMIN5,splice_acceptor_variant,,ENST00000285873,NM_001252156.1,NM_015465.4;	G	ENST00000285873	Transcript	splice_acceptor_variant	-/5397	1856/4527	619/1508				1		-1	GEMIN5	HGNC	HGNC:20043	protein_coding	YES	CCDS4330.1	ENSP00000285873	Q8TEQ6		UPI000020D072	NM_001252156.1,NM_015465.4				13/27																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	45	154913039	154913039	C	G	1	0	0	0	0	0	0	1	0	6205	927	32	4		4	GEMIN5	5	154913039	Splice_Site	SNP	C	C3N-00293_TP	3236872	154913039	26625220	114	13288											
CCNG1	0	.	GRCh38	chr5	163441141	163441141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttggctgtaaaatcaataGaagaggaaaggaatgtccca	17	9	10	5	0	1	2	1	0	0	2	2	4	2	4	1	3	0	2	1	3	7	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.328G>A	p.Glu110Lys	p.E110K	ENST00000340828	3/7	260	240	20	132	132	0	strelka-varscan-mutect	CCNG1,missense_variant,p.Glu110Lys,ENST00000340828,NM_004060.3;CCNG1,missense_variant,p.Glu110Lys,ENST00000393929,NM_199246.1;CCNG1,missense_variant,p.Glu110Lys,ENST00000510097,;CCNG1,missense_variant,p.Glu110Lys,ENST00000511490,;CCNG1,5_prime_UTR_variant,,ENST00000512163,;CCNG1,intron_variant,,ENST00000510664,;CCNG1,upstream_gene_variant,,ENST00000504553,;RP11-541P9.3,upstream_gene_variant,,ENST00000503504,;RP11-541P9.3,upstream_gene_variant,,ENST00000458002,;CCNG1,non_coding_transcript_exon_variant,,ENST00000511683,;CCNG1,upstream_gene_variant,,ENST00000509425,;CCNG1,upstream_gene_variant,,ENST00000509143,;CCNG1,non_coding_transcript_exon_variant,,ENST00000512532,;CCNG1,downstream_gene_variant,,ENST00000506186,;CCNG1,upstream_gene_variant,,ENST00000514367,;	A	ENST00000340828	Transcript	missense_variant	552/2458	328/888	110/295	E/K	Gaa/Aaa		1		1	CCNG1	HGNC	HGNC:1592	protein_coding	YES	CCDS4360.1	ENSP00000344635	P51959		UPI00001275D2	NM_004060.3	deleterious(0.01)		3/7		Gene3D:1.10.472.10,Pfam_domain:PF00134,hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF59,SMART_domains:SM00385,Superfamily_domains:SSF47954																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	163441141	163441141	G	A	1	0	0	0	0	1	0	0	0	2622	943	33	3		3	CCNG1	5	163441141	Missense_Mutation	SNP	G	C3N-00293_TP	8528102	163441141	18097118	115	13289											
FAM196B	0	.	GRCh38	chr5	169883310	169883310	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatggcagctgtggcttTctctaaggacctccaagttc	8	12	10	11	0	1	1	0	1	1	0	4	2	2	2	2	3	1	4	2	3	3	3	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.589A>G	p.Lys197Glu	p.K197E	ENST00000377365	2/4	183	173	10	117	117	0	strelka-varscan-mutect	FAM196B,missense_variant,p.Lys197Glu,ENST00000377365,NM_001129891.1;DOCK2,intron_variant,,ENST00000256935,NM_004946.2;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;	C	ENST00000377365	Transcript	missense_variant	1971/2999	589/1608	197/535	K/E	Aaa/Gaa		1		-1	FAM196B	HGNC	HGNC:37271	protein_coding	YES	CCDS47336.1	ENSP00000366582	A6NMK8		UPI0000480500	NM_001129891.1	deleterious(0.01)		2/4		Pfam_domain:PF15265,hmmpanther:PTHR28682,hmmpanther:PTHR28682:SF2																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	45	169883310	169883310	T	C	1	0	0	0	0	1	0	0	0	5374	1792	62	5		5	FAM196B	5	169883310	Missense_Mutation	SNP	T	C3N-00293_TP	6442169	169883310	11654949	116	13290											
MRS2	0	.	GRCh38	chr6	24423690	24423690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggagcatcctaacaaaccGttaggaacagccccgtggat	14	6	10	11	2	0	0	0	0	0	0	1	3	1	3	4	3	5	2	4	3	5	2	rs114959453		C3N-00293_TP	C3N-00293_NB	G	G																c.1337G>A	p.Arg446His	p.R446H	ENST00000443868	12/12	133	125	8	78	78	0	strelka-varscan-mutect	MRS2,missense_variant,p.Arg446His,ENST00000443868,NM_001286264.1;MRS2,missense_variant,p.Arg393His,ENST00000274747,NM_001286266.1;MRS2,missense_variant,p.Arg443His,ENST00000378386,NM_020662.3;GPLD1,downstream_gene_variant,,ENST00000230036,NM_001503.3;MRS2,downstream_gene_variant,,ENST00000378353,NM_001286265.1;MRS2,downstream_gene_variant,,ENST00000483634,;GPLD1,downstream_gene_variant,,ENST00000492917,;	A	ENST00000443868	Transcript	missense_variant	1476/3980	1337/1341	446/446	R/H	cGt/cAt	rs114959453,COSM3860732,COSM3860733	1		1	MRS2	HGNC	HGNC:13785	protein_coding	YES	CCDS69055.1	ENSP00000399585	Q9HD23		UPI00017A778D	NM_001286264.1	deleterious_low_confidence(0)		12/12													0,1,1						MODERATE		SNV	2		0,1,1	1										PASS		rs114959453	.												A	3	1	45	24423690	24423690	G	A	1	0	0	0	0	1	0	0	0	9828	1145	40	1		1	MRS2	6	24423690	Missense_Mutation	SNP	G	C3N-00293_TP		24423690	146382289	117	13291											
ACOT13	0	.	GRCh38	chr6	24701481	24701481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatgtcacctgcaaaattaGgagaagatatagtgattaca	17	10	8	6	0	1	3	1	1	0	2	1	4	1	3	1	1	2	1	1	1	7	4	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.289G>A	p.Gly97Arg	p.G97R	ENST00000230048	3/3	154	144	10	72	72	0	strelka-varscan-mutect	ACOT13,missense_variant,p.Gly74Arg,ENST00000537591,NM_001160094.1;ACOT13,missense_variant,p.Gly97Arg,ENST00000230048,NM_018473.3;C6orf62,downstream_gene_variant,,ENST00000378119,NM_030939.4;C6orf62,downstream_gene_variant,,ENST00000378102,;RP1-30M3.5,non_coding_transcript_exon_variant,,ENST00000607014,;ACOT13,non_coding_transcript_exon_variant,,ENST00000476436,;	A	ENST00000230048	Transcript	missense_variant	482/4047	289/423	97/140	G/R	Gga/Aga		1		1	ACOT13	HGNC	HGNC:20999	protein_coding	YES	CCDS4558.1	ENSP00000230048	Q9NPJ3		UPI0000131D18	NM_018473.3	deleterious(0)		3/3		Gene3D:3.10.129.10,Pfam_domain:PF03061,hmmpanther:PTHR21660,Superfamily_domains:SSF54637,TIGRFAM_domain:TIGR00369																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	24701481	24701481	G	A	1	0	0	0	0	1	0	0	0	193	1001	35	3		3	ACOT13	6	24701481	Missense_Mutation	SNP	G	C3N-00293_TP	277791	24701481	146104498	118	13292											
HIST1H1E	0	.	GRCh38	chr6	26156465	26156465	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgaagaagaaggcccgCaagtctgcaggtgcggccaa	11	4	14	12	3	1	3	0	1	1	2	1	3	1	3	3	3	2	2	3	3	5	0	rs374113105		C3N-00293_TP	C3N-00293_NB	C	C																c.75C>T	p.=	p.R25R	ENST00000304218	1/1	181	170	11	139	139	0	strelka-varscan-mutect	HIST1H1E,synonymous_variant,p.=,ENST00000304218,NM_005321.2;HIST1H2BD,upstream_gene_variant,,ENST00000289316,NM_138720.2;HIST1H2BD,upstream_gene_variant,,ENST00000377777,NM_021063.3;RP1-221C16.8,downstream_gene_variant,,ENST00000635439,;	T	ENST00000304218	Transcript	synonymous_variant	112/754	75/660	25/219	R	cgC/cgT	rs374113105	1		1	HIST1H1E	HGNC	HGNC:4718	protein_coding	YES	CCDS4586.1	ENSP00000307705	P10412	A3R0T8	UPI0000000DB9	NM_005321.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF16,Prints_domain:PR00624																	LOW		SNV				1										PASS		rs374113105	.												T	2	4	45	26156465	26156465	C	T	1	0	0	0	0	0	0	0	1	7014	697	25	3		3	HIST1H1E	6	26156465	Silent	SNP	C	C3N-00293_TP	1454984	26156465	144649514	119	13293											
BTN3A2	0	.	GRCh38	chr6	26368698	26368698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggtaagttccagcctaagGcaggtggtgaacgtgtatgc	9	10	15	7	1	0	1	0	1	0	0	1	1	1	1	2	4	3	4	2	4	4	4	rs149839807		C3N-00293_TP	C3N-00293_NB	G	G																c.219G>T	p.Arg73Ser	p.R73S	ENST00000356386	4/11	650	598	52	519	519	0	varscan-mutect	BTN3A2,missense_variant,p.Arg31Ser,ENST00000508906,NM_001197249.2;BTN3A2,missense_variant,p.Arg50Ser,ENST00000396934,NM_001197248.2;BTN3A2,missense_variant,p.Arg73Ser,ENST00000356386,NM_007047.4,NM_001197247.2,NM_001197246.2;BTN3A2,missense_variant,p.Arg73Ser,ENST00000377708,;BTN3A2,missense_variant,p.Arg73Ser,ENST00000396948,;BTN3A2,missense_variant,p.Arg73Ser,ENST00000527422,;BTN3A2,missense_variant,p.Arg31Ser,ENST00000532865,;BTN3A2,missense_variant,p.Arg73Ser,ENST00000527417,;BTN3A2,missense_variant,p.Arg31Ser,ENST00000530653,;BTN3A2,upstream_gene_variant,,ENST00000527639,;BTN3A2,intron_variant,,ENST00000532994,;BTN3A2,intron_variant,,ENST00000524682,;BTN3A2,intron_variant,,ENST00000532627,;BTN3A2,non_coding_transcript_exon_variant,,ENST00000528222,;BTN3A2,non_coding_transcript_exon_variant,,ENST00000528541,;BTN3A2,intron_variant,,ENST00000524459,;BTN3A2,upstream_gene_variant,,ENST00000604202,;BTN3A2,upstream_gene_variant,,ENST00000531055,;BTN3A2,upstream_gene_variant,,ENST00000532294,;	T	ENST00000356386	Transcript	missense_variant	407/3017	219/1005	73/334	R/S	agG/agT	rs149839807	1		1	BTN3A2	HGNC	HGNC:1139	protein_coding	YES	CCDS4605.1	ENSP00000348751	P78410		UPI000006E484	NM_007047.4,NM_001197247.2,NM_001197246.2	tolerated(1)		4/11		PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF70,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs149839807	.												T	3	4	45	26368698	26368698	G	T	1	0	0	0	0	1	0	0	0	1739	1194	42	2		2	BTN3A2	6	26368698	Missense_Mutation	SNP	G	C3N-00293_TP	212233	26368698	144437281	120	13294											
IL17F	0	.	GRCh38	chr6	52238805	52238805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctggttttcattgatgatgCcaatgtcaagcttcatacta	10	15	8	8	0	3	2	3	2	0	0	3	2	3	2	1	1	3	3	1	1	4	6	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.179G>A	p.Gly60Asp	p.G60D	ENST00000336123	2/3	536	496	40	387	387	0	strelka-varscan-mutect	IL17F,missense_variant,p.Gly60Asp,ENST00000336123,NM_052872.3;IL17F,non_coding_transcript_exon_variant,,ENST00000478427,;	T	ENST00000336123	Transcript	missense_variant	287/850	179/492	60/163	G/D	gGc/gAc		1		-1	IL17F	HGNC	HGNC:16404	protein_coding	YES	CCDS4938.1	ENSP00000337432	Q96PD4		UPI0000038A0C	NM_052872.3	tolerated(0.12)		2/3		hmmpanther:PTHR21295:SF8,hmmpanther:PTHR21295,Gene3D:2.10.90.10,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	52238805	52238805	C	T	1	0	0	0	0	1	0	0	0	7546	739	26	3		3	IL17F	6	52238805	Missense_Mutation	SNP	C	C3N-00293_TP	25870107	52238805	118567174	121	13295											
MAN1A1	0	.	GRCh38	chr6	119348869	119348869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaccccgctgagcagcttgGaggagtctggcaggaagaag	10	5	17	9	1	1	2	0	1	1	1	1	6	1	6	2	5	2	4	2	5	2	1	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.197C>T	p.Ser66Phe	p.S66F	ENST00000368468	2/13	122	113	9	145	145	0	strelka-varscan-mutect	MAN1A1,missense_variant,p.Ser66Phe,ENST00000368468,NM_005907.3;	A	ENST00000368468	Transcript	missense_variant	639/5014	197/1962	66/653	S/F	tCc/tTc		1		-1	MAN1A1	HGNC	HGNC:6821	protein_coding	YES	CCDS5122.1	ENSP00000357453	P33908		UPI000013D632	NM_005907.3	tolerated(0.09)		2/13		hmmpanther:PTHR11742:SF31,hmmpanther:PTHR11742																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	45	119348869	119348869	G	A	1	0	0	0	0	1	0	0	0	9131	1174	41	3		3	MAN1A1	6	119348869	Missense_Mutation	SNP	G	C3N-00293_TP	67110064	119348869	51457110	122	13296											
HIVEP2	0	.	GRCh38	chr6	142769956	142769956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggcccttcccttcctcttCcagctgaccatctcctgctg	3	13	7	18	0	2	1	0	1	2	0	6	1	5	1	6	1	2	2	6	1	0	3	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.4783G>A	p.Glu1595Lys	p.E1595K	ENST00000367603	5/10	358	326	32	216	216	0	strelka-varscan-mutect	HIVEP2,missense_variant,p.Glu1595Lys,ENST00000367603,NM_006734.3;HIVEP2,missense_variant,p.Glu1595Lys,ENST00000367604,;HIVEP2,missense_variant,p.Glu1595Lys,ENST00000012134,;	T	ENST00000367603	Transcript	missense_variant	5526/9723	4783/7341	1595/2446	E/K	Gaa/Aaa		1		-1	HIVEP2	HGNC	HGNC:4921	protein_coding	YES	CCDS43510.1	ENSP00000356575	P31629		UPI00004708DD	NM_006734.3	tolerated(0.17)		5/10		hmmpanther:PTHR23233:SF53,hmmpanther:PTHR23233																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	142769956	142769956	C	T	1	0	0	0	0	1	0	0	0	7076	864	30	3		3	HIVEP2	6	142769956	Missense_Mutation	SNP	C	C3N-00293_TP	23421087	142769956	28036023	123	13297											
MTHFD1L	0	.	GRCh38	chr6	151034560	151034560	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccaaagatattgaactctCtcctgaggcacaagccaaaa	16	7	7	11	0	1	3	0	2	1	1	3	3	2	3	3	1	3	1	3	1	6	2	rs753786210		C3N-00293_TP	C3N-00293_NB	C	C																c.2657C>G	p.Ser886Cys	p.S886C	ENST00000611279	25/28	304	283	21	132	132	0	strelka-varscan-mutect	MTHFD1L,missense_variant,p.Ser885Cys,ENST00000367321,NM_015440.4;MTHFD1L,missense_variant,p.Ser886Cys,ENST00000611279,NM_001242767.1;MTHFD1L,missense_variant,p.Ser820Cys,ENST00000618312,NM_001242768.1;MTHFD1L,missense_variant,p.Ser10Cys,ENST00000453602,;MTHFD1L,upstream_gene_variant,,ENST00000450635,;	G	ENST00000611279	Transcript	missense_variant	2801/3475	2657/2940	886/979	S/C	tCt/tGt	rs753786210	1		1	MTHFD1L	HGNC	HGNC:21055	protein_coding	YES	CCDS75535.1	ENSP00000478253		B7ZM99	UPI000166C73D	NM_001242767.1	deleterious(0)		25/28		HAMAP:MF_01543,hmmpanther:PTHR10025,hmmpanther:PTHR10025:SF14,Gene3D:1eg7A03,Pfam_domain:PF01268,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		rs753786210	.												G	3	3	45	151034560	151034560	C	G	1	0	0	0	0	1	0	0	0	9917	913	32	4		4	MTHFD1L	6	151034560	Missense_Mutation	SNP	C	C3N-00293_TP	8264604	151034560	19771419	124	13298											
SERAC1	0	.	GRCh38	chr6	158128108	158128112	+	Frame_Shift_Del	DEL	CTGAG	CTGAG	-																															tcagtatataaagctgttacCtgagcgaactatagaagaat																								novel		C3N-00293_TP	C3N-00293_NB	CTGAG	CTGAG																c.1011_1015delCTCAG	p.Ser338LeufsTer54	p.S338Lfs*54	ENST00000367104	10/17	113	106	7	67	67	0	varindel-pindel	SERAC1,frameshift_variant,p.Ser338LeufsTer54,ENST00000367104,NM_032861.3;SERAC1,frameshift_variant,p.Ser338LeufsTer54,ENST00000367101,;SERAC1,frameshift_variant,p.Ser300LeufsTer54,ENST00000606965,;SERAC1,splice_region_variant,,ENST00000607742,;SERAC1,splice_region_variant,,ENST00000607071,;	-	ENST00000367104	Transcript	frameshift_variant,splice_region_variant	1143-1147/3948	1011-1015/1965	337-339/654	RSG/RX	cgCTCAGgc/cggc		1		-1	SERAC1	HGNC	HGNC:21061	protein_coding	YES	CCDS5255.1	ENSP00000356071	Q96JX3		UPI0000070959	NM_032861.3			10/17		hmmpanther:PTHR22731,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	45	158128108	158128108	CTGAG	-	1	0	1	0	1	0	0	0	0	14349	695	24	0		0	SERAC1	6	158128108	Frame_Shift_Del	DEL	CTGAG	C3N-00293_TP	7093548	158128108	12677871	125	13299											
RPS6KA2	0	.	GRCh38	chr6	166508277	166508277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagagctttccttccgtctGaaaggctgtgggggacagag	8	10	15	8	1	1	3	0	1	1	2	3	4	3	4	2	3	1	3	2	3	2	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.409C>A	p.Gln137Lys	p.Q137K	ENST00000503859	6/22	153	138	15	118	117	1	strelka-varscan-mutect	RPS6KA2,missense_variant,p.Gln154Lys,ENST00000510118,NM_001318936.1;RPS6KA2,missense_variant,p.Gln129Lys,ENST00000265678,NM_001318938.1,NM_001318937.1,NM_021135.4;RPS6KA2,missense_variant,p.Gln137Lys,ENST00000503859,NM_001006932.1;RPS6KA2,missense_variant,p.Gln40Lys,ENST00000481261,;RPS6KA2,missense_variant,p.Gln40Lys,ENST00000405189,;RPS6KA2,missense_variant,p.Gln113Lys,ENST00000507371,;RPS6KA2,missense_variant,p.Gln40Lys,ENST00000507350,;RPS6KA2,missense_variant,p.Gln154Lys,ENST00000506565,;RPS6KA2,missense_variant,p.Gln40Lys,ENST00000512860,;RPS6KA2,downstream_gene_variant,,ENST00000511034,;MIR1913,downstream_gene_variant,,ENST00000411026,;RPS6KA2,non_coding_transcript_exon_variant,,ENST00000366865,;	T	ENST00000503859	Transcript	missense_variant	790/4137	409/2226	137/741	Q/K	Cag/Aag		1		-1	RPS6KA2	HGNC	HGNC:10431	protein_coding	YES	CCDS34570.1	ENSP00000427015	Q15349		UPI000020D48C	NM_001006932.1	deleterious(0)		6/22		PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF25,PIRSF_domain:PIRSF000606,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	166508277	166508277	G	T	1	0	0	0	0	1	0	0	0	13906	1304	45	2		2	RPS6KA2	6	166508277	Missense_Mutation	SNP	G	C3N-00293_TP	8380169	166508277	4297702	126	13300											
ELFN1	0	.	GRCh38	chr7	1745961	1745961	+	Frame_Shift_Del	DEL	G	G	-																															aagcacaagaaggccgcctcGgcagccgcagctggcagcct																								rs773642663		C3N-00293_TP	C3N-00293_NB	G	G																c.1366delG	p.Ala456GlnfsTer39	p.A456Qfs*39	ENST00000424383	3/3	119	110	9	74	74	0	varindel-pindel	ELFN1,frameshift_variant,p.Ala456GlnfsTer39,ENST00000424383,;ELFN1,frameshift_variant,p.Ala456GlnfsTer39,ENST00000561626,NM_001128636.2;ELFN1-AS1,upstream_gene_variant,,ENST00000453348,;ELFN1-AS1,upstream_gene_variant,,ENST00000415399,;	-	ENST00000424383	Transcript	frameshift_variant	1852/3845	1365/2487	455/828	S/X	tcG/tc	rs773642663	1		1	ELFN1	HGNC	HGNC:33154	protein_coding	YES	CCDS59046.1	ENSP00000456548	P0C7U0		UPI0000251E11				3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24367:SF34,hmmpanther:PTHR24367																	HIGH		deletion	5	1		1										PASS		.	.												-	7	5	45	1745961	1745961	G	-	1	0	1	0	1	0	0	0	0	4891	1103	39	0		0	ELFN1	7	1745961	Frame_Shift_Del	DEL	G	C3N-00293_TP		1745961	157600012	127	13301											
CCZ1	0	.	GRCh38	chr7	5901682	5901682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtttatagctcggtgctgcGgcagtgctacagcatgtaca	8	11	13	9	2	0	0	0	0	0	0	1	0	0	0	0	3	7	7	0	3	4	5	rs769524748		C3N-00293_TP	C3N-00293_NB	G	G																c.416G>T	p.Arg139Leu	p.R139L	ENST00000325974	5/15	171	150	21	112	112	0	varscan-mutect	CCZ1,missense_variant,p.Arg139Leu,ENST00000325974,NM_015622.5;CCZ1,3_prime_UTR_variant,,ENST00000628813,;CCZ1,non_coding_transcript_exon_variant,,ENST00000478672,;CCZ1,downstream_gene_variant,,ENST00000461592,;CCZ1,upstream_gene_variant,,ENST00000483394,;	T	ENST00000325974	Transcript	missense_variant	482/1802	416/1449	139/482	R/L	cGg/cTg	rs769524748	1		1	CCZ1	HGNC	HGNC:21691	protein_coding	YES	CCDS34597.1	ENSP00000325681	P86791		UPI000006CEFF	NM_015622.5	tolerated(0.19)		5/15		hmmpanther:PTHR13056,Pfam_domain:PF08217																	MODERATE	1	SNV	1			1										PASS		rs769524748	.												T	3	4	45	5901682	5901682	G	T	1	0	0	0	0	1	0	0	0	2663	1116	39	1		1	CCZ1	7	5901682	Missense_Mutation	SNP	G	C3N-00293_TP	4155721	5901682	153444291	128	13302											
YAE1D1	0	.	GRCh38	chr7	39572315	39572315	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaccttcataataataattCaactttgatcaataaaataa	19	14	1	7	0	4	1	4	1	0	0	4	1	4	1	1	0	1	0	1	0	8	8	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.290C>G	p.Ser97Ter	p.S97*	ENST00000223273	3/3	174	159	15	103	103	0	strelka-varscan-mutect	YAE1D1,stop_gained,p.Ser97Ter,ENST00000223273,NM_020192.4;YAE1D1,intron_variant,,ENST00000432096,NM_001282446.1;YAE1D1,intron_variant,,ENST00000448268,;YAE1D1,downstream_gene_variant,,ENST00000469737,;YAE1D1,non_coding_transcript_exon_variant,,ENST00000485025,;YAE1D1,downstream_gene_variant,,ENST00000474392,;AC011290.5,upstream_gene_variant,,ENST00000438427,;	G	ENST00000223273	Transcript	stop_gained	333/899	290/681	97/226	S/*	tCa/tGa		1		1	YAE1D1	HGNC	HGNC:24857	protein_coding	YES	CCDS5459.1	ENSP00000223273	Q9NRH1		UPI0000074023	NM_020192.4			3/3		hmmpanther:PTHR18829,hmmpanther:PTHR18829:SF0,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	45	39572315	39572315	C	G	1	0	0	0	0	0	1	0	0	18024	838	29	4		4	YAE1D1	7	39572315	Nonsense_Mutation	SNP	C	C3N-00293_TP	33670633	39572315	119773658	129	13303											
PKD1L1	0	.	GRCh38	chr7	47905923	47905923	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaaataaaggacacgttaTatgaaggaatagatggaaag	20	7	12	2	1	0	3	0	1	0	2	0	7	0	6	0	3	0	1	0	3	9	4			C3N-00293_TP	C3N-00293_NB	T	T																c.1442A>G	p.Tyr481Cys	p.Y481C	ENST00000289672	10/57	240	216	24	164	164	0	strelka-varscan-mutect	PKD1L1,missense_variant,p.Tyr481Cys,ENST00000289672,NM_138295.3;HUS1,intron_variant,,ENST00000436444,;	C	ENST00000289672	Transcript	missense_variant	1493/9092	1442/8550	481/2849	Y/C	tAt/tGt	COSM1644893	1		-1	PKD1L1	HGNC	HGNC:18053	protein_coding	YES	CCDS34633.1	ENSP00000289672	Q8TDX9		UPI0000130FA9	NM_138295.3	tolerated(0.27)		10/57		hmmpanther:PTHR10877:SF145,hmmpanther:PTHR10877											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	45	47905923	47905923	T	C	1	0	0	0	0	1	0	0	0	12060	1406	49	5		5	PKD1L1	7	47905923	Missense_Mutation	SNP	T	C3N-00293_TP	8333608	47905923	111440050	130	13304											
ABCA13	0	.	GRCh38	chr7	48288070	48288070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcactttggcgcaggacCacttccaggtttgtcgtctt	5	13	12	11	2	2	0	1	0	1	0	4	1	3	1	2	4	0	2	2	4	0	4	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.8947C>A	p.His2983Asn	p.H2983N	ENST00000435803	20/62	145	122	23	94	94	0	strelka-varscan-mutect	ABCA13,missense_variant,p.His2983Asn,ENST00000435803,NM_152701.4;ABCA13,missense_variant,p.His290Asn,ENST00000544596,;ABCA13,non_coding_transcript_exon_variant,,ENST00000611776,;	A	ENST00000435803	Transcript	missense_variant	8971/17184	8947/15177	2983/5058	H/N	Cac/Aac		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4	deleterious(0.02)		20/62																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	48288070	48288070	C	A	1	0	0	0	0	1	0	0	0	35	594	21	2		2	ABCA13	7	48288070	Missense_Mutation	SNP	C	C3N-00293_TP	382147	48288070	111057903	131	13305											
ZNF479	0	.	GRCh38	chr7	57120259	57120259	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctaaagtcttggccacAttcttcacatgtgtagggtt	8	13	10	10	1	3	0	1	0	2	0	3	0	3	0	2	2	0	2	2	2	3	6	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.1156T>C	p.Cys386Arg	p.C386R	ENST00000331162	5/5	166	156	10	93	93	0	varscan-mutect	ZNF479,missense_variant,p.Cys386Arg,ENST00000331162,NM_033273.2;ZNF479,missense_variant,p.Cys386Arg,ENST00000319636,;ZNF479,missense_variant,p.Cys274Arg,ENST00000620639,;	G	ENST00000331162	Transcript	missense_variant	1427/2072	1156/1575	386/524	C/R	Tgt/Cgt		1		-1	ZNF479	HGNC	HGNC:23258	protein_coding	YES	CCDS43590.1	ENSP00000333776	Q96JC4		UPI000006E615	NM_033273.2	deleterious(0)		5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF103,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	45	57120259	57120259	A	G	1	0	0	0	0	1	0	0	0	18505	217	8	5		5	ZNF479	7	57120259	Missense_Mutation	SNP	A	C3N-00293_TP	8832189	57120259	102225714	132	13306											
ZNF727	0	.	GRCh38	chr7	64068894	64068894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttttgtttttcagcgaGtgctaacattcagggatgtg	8	17	11	5	1	2	0	2	0	0	0	2	2	2	1	0	1	3	3	0	1	2	7	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.7G>T	p.Val3Leu	p.V3L	ENST00000456806	2/4	267	231	36	177	175	2	strelka-varscan-mutect	ZNF727,missense_variant,p.Val3Leu,ENST00000456806,NM_001159522.1;	T	ENST00000456806	Transcript	missense_variant	186/1679	7/1500	3/499	V/L	Gtg/Ttg		1		1	ZNF727	HGNC	HGNC:22785	protein_coding	YES	CCDS55113.1	ENSP00000485448	A8MUV8		UPI0001A23134	NM_001159522.1	tolerated(1)		2/4		hmmpanther:PTHR24384:SF98,hmmpanther:PTHR24384,Superfamily_domains:0044637																	MODERATE	1	SNV	4			1										PASS		.	.												T	3	4	45	64068894	64068894	G	T	1	0	0	0	0	1	0	0	0	18701	1043	36	2		2	ZNF727	7	64068894	Missense_Mutation	SNP	G	C3N-00293_TP	6948635	64068894	95277079	133	13307											
PCLO	0	.	GRCh38	chr7	82915547	82915547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatcagcatggtaataatGagaaagaccagcaaggtgat	17	8	11	5	0	1	3	1	2	0	2	1	4	1	3	1	2	2	4	1	2	5	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.12439C>T	p.His4147Tyr	p.H4147Y	ENST00000333891	7/25	207	179	28	111	111	0	strelka-varscan-mutect	PCLO,missense_variant,p.His4147Tyr,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.His4147Tyr,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.His867Tyr,ENST00000437081,;	A	ENST00000333891	Transcript	missense_variant	12777/20329	12439/15429	4147/5142	H/Y	Cat/Tat		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	tolerated(0.11)		7/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	MODERATE	1	SNV	2			1										PASS		rs1439073582	.												A	3	1	45	82915547	82915547	G	A	1	0	0	0	0	1	0	0	0	11671	1290	45	3		3	PCLO	7	82915547	Missense_Mutation	SNP	G	C3N-00293_TP	18846653	82915547	76430426	134	13308											
C7orf62	0	.	GRCh38	chr7	88794213	88794213	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcaggccataccacctCagaatccagagtgatgtgta	13	7	11	10	0	1	3	1	1	0	2	2	4	2	4	4	2	2	2	4	2	3	2	rs763426089		C3N-00293_TP	C3N-00293_NB	C	C																c.730G>T	p.Glu244Ter	p.E244*	ENST00000297203	2/2	113	102	11	55	55	0	strelka-varscan-mutect	C7orf62,stop_gained,p.Glu244Ter,ENST00000297203,NM_152706.3;ZNF804B,intron_variant,,ENST00000333190,NM_181646.3;	A	ENST00000297203	Transcript	stop_gained	916/1023	730/762	244/253	E/*	Gag/Tag	rs763426089,COSM124430	1		-1	C7orf62	HGNC	HGNC:22402	protein_coding	YES	CCDS34678.1	ENSP00000297203	Q8TBZ9		UPI000005034C	NM_152706.3			2/2		hmmpanther:PTHR34035,hmmpanther:PTHR34035:SF1											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs763426089	.												A	4	1	45	88794213	88794213	C	A	1	0	0	0	0	0	1	0	0	2146	835	29	2		2	C7orf62	7	88794213	Nonsense_Mutation	SNP	C	C3N-00293_TP	5878666	88794213	70551760	135	13309											
CFAP69	0	.	GRCh38	chr7	90304820	90304820	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catagatatcttgattttaaAgtaagtatctttttaataac	15	18	4	4	0	2	2	0	1	2	1	2	2	2	2	0	0	1	2	0	0	8	11	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.2265A>T	p.Lys755Asn	p.K755N	ENST00000389297	19/23	70	60	10	45	45	0	strelka-varscan-mutect	CFAP69,missense_variant,p.Lys755Asn,ENST00000389297,NM_001039706.2;CFAP69,missense_variant,p.Lys737Asn,ENST00000497910,NM_001160138.1;CFAP69,missense_variant,p.Lys292Asn,ENST00000449577,;CFAP69,missense_variant,p.Lys50Asn,ENST00000412839,;CFAP69,downstream_gene_variant,,ENST00000457170,;CFAP69,upstream_gene_variant,,ENST00000445156,;CFAP69,splice_region_variant,,ENST00000475031,;CFAP69,splice_region_variant,,ENST00000427396,;CFAP69,downstream_gene_variant,,ENST00000451029,;	T	ENST00000389297	Transcript	missense_variant,splice_region_variant	2516/3902	2265/2826	755/941	K/N	aaA/aaT		1		1	CFAP69	HGNC	HGNC:26107	protein_coding	YES	CCDS43613.2	ENSP00000373948	A5D8W1		UPI000066DA29	NM_001039706.2	deleterious(0)		19/23		hmmpanther:PTHR14716:SF0,hmmpanther:PTHR14716																	MODERATE	1	SNV	1			1										PASS		rs767754288	.												T	3	4	45	90304820	90304820	A	T	1	0	0	0	0	1	0	0	0	3030	86	3	4		4	CFAP69	7	90304820	Missense_Mutation	SNP	A	C3N-00293_TP	1510607	90304820	69041153	136	13310											
RBM48	0	.	GRCh38	chr7	92534882	92534882	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggtaatgagattatgattgGacctctgttaccagacatct	11	14	9	7	0	2	3	0	2	2	2	2	5	2	4	2	2	1	2	2	2	3	4	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.929G>C	p.Gly310Ala	p.G310A	ENST00000265732	4/5	380	356	24	195	195	0	strelka-varscan-mutect	RBM48,missense_variant,p.Gly310Ala,ENST00000481551,;RBM48,missense_variant,p.Gly310Ala,ENST00000265732,NM_032120.2;RBM48,downstream_gene_variant,,ENST00000496410,;	C	ENST00000265732	Transcript	missense_variant	970/1742	929/1104	310/367	G/A	gGa/gCa		1		1	RBM48	HGNC	HGNC:21785	protein_coding	YES	CCDS43615.1	ENSP00000265732	Q5RL73		UPI000020F54D	NM_032120.2	deleterious(0)		4/5		hmmpanther:PTHR20957																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	92534882	92534882	G	C	1	0	0	0	0	1	0	0	0	13308	1174	41	4		4	RBM48	7	92534882	Missense_Mutation	SNP	G	C3N-00293_TP	2230062	92534882	66811091	137	13311											
COL1A2	0	.	GRCh38	chr7	94409599	94409599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacggccttactggtgccaaGggtgctgctgtgagtatacc	8	10	13	10	1	0	1	0	1	0	0	0	1	0	1	3	3	6	3	3	3	5	3	rs746402161		C3N-00293_TP	C3N-00293_NB	G	G																c.927G>T	p.Lys309Asn	p.K309N	ENST00000297268	18/52	749	656	93	590	589	1	strelka-varscan-mutect	COL1A2,missense_variant,p.Lys309Asn,ENST00000297268,NM_000089.3;COL1A2,missense_variant,p.Lys307Asn,ENST00000620463,;COL1A2,upstream_gene_variant,,ENST00000473573,;COL1A2,upstream_gene_variant,,ENST00000488298,;	T	ENST00000297268	Transcript	missense_variant	1398/5411	927/4101	309/1366	K/N	aaG/aaT	rs746402161	1		1	COL1A2	HGNC	HGNC:2198	protein_coding	YES	CCDS34682.1	ENSP00000297268	P08123	A0A0S2Z3H5	UPI00003B0CFC	NM_000089.3	deleterious(0)		18/52		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF568,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs746402161	.												T	3	4	45	94409599	94409599	G	T	1	0	0	0	0	1	0	0	0	3466	991	35	2		2	COL1A2	7	94409599	Missense_Mutation	SNP	G	C3N-00293_TP	1874717	94409599	64936374	138	13312											
PON1	0	.	GRCh38	chr7	95315325	95315325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagtaaatattgttaccttCatctgtgaatgtgctaatcc	12	16	6	7	0	2	1	1	1	1	0	3	1	3	1	2	0	2	3	2	0	7	7			C3N-00293_TP	C3N-00293_NB	C	C																c.367G>A	p.Glu123Lys	p.E123K	ENST00000222381	4/9	345	312	33	194	194	0	strelka-varscan-mutect	PON1,missense_variant,p.Glu123Lys,ENST00000222381,NM_000446.5;PON1,3_prime_UTR_variant,,ENST00000433729,;PON1,non_coding_transcript_exon_variant,,ENST00000470502,;	T	ENST00000222381	Transcript	missense_variant	599/2568	367/1068	123/355	E/K	Gaa/Aaa	COSM3924287	1		-1	PON1	HGNC	HGNC:9204	protein_coding	YES	CCDS5638.1	ENSP00000222381	P27169		UPI000013C7FD	NM_000446.5	tolerated(0.94)		4/9		hmmpanther:PTHR11799,hmmpanther:PTHR11799:SF16,Gene3D:2.120.10.30,Superfamily_domains:SSF63829,Prints_domain:PR01786											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	45	95315325	95315325	C	T	1	0	0	0	0	1	0	0	0	12362	840	29	3		3	PON1	7	95315325	Missense_Mutation	SNP	C	C3N-00293_TP	905726	95315325	64030648	139	13313											
LAMB1	0	.	GRCh38	chr7	107955596	107955596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagtgatctcctgaccCaatgatggggtcgccatagt	8	9	13	11	2	1	3	0	3	1	0	3	3	1	3	3	3	0	1	3	3	2	1			C3N-00293_TP	C3N-00293_NB	C	C																c.2725G>T	p.Gly909Trp	p.G909W	ENST00000222399	21/34	158	141	17	121	121	0	strelka-varscan-mutect	LAMB1,missense_variant,p.Gly933Trp,ENST00000393561,;LAMB1,missense_variant,p.Gly909Trp,ENST00000222399,NM_002291.2;LAMB1,downstream_gene_variant,,ENST00000393560,;LAMB1,upstream_gene_variant,,ENST00000476039,;LAMB1,upstream_gene_variant,,ENST00000479448,;	A	ENST00000222399	Transcript	missense_variant	2956/5725	2725/5361	909/1786	G/W	Ggg/Tgg	COSM382505	1		-1	LAMB1	HGNC	HGNC:6486	protein_coding	YES	CCDS5750.1	ENSP00000222399	P07942		UPI00001AE63F	NM_002291.2	deleterious(0)		21/34		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196											1						MODERATE	1	SNV	1		1	1										PASS		rs1064793562	.												A	3	1	45	107955596	107955596	C	A	1	0	0	0	0	1	0	0	0	8514	594	21	2		2	LAMB1	7	107955596	Missense_Mutation	SNP	C	C3N-00293_TP	12640271	107955596	51390377	140	13314											
FOXP2	0	.	GRCh38	chr7	114631529	114631529	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggttttctgataccagcAgcagcagcagcagcagcagc	10	8	12	11	0	1	1	0	1	1	0	1	1	1	1	1	1	9	8	1	1	1	4	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.674A>T	p.Gln225Leu	p.Q225L	ENST00000408937	7/18	381	349	32	304	304	0	strelka-varscan-mutect	FOXP2,splice_acceptor_variant,,ENST00000393498,;FOXP2,missense_variant,p.Gln225Leu,ENST00000408937,NM_148898.3;FOXP2,missense_variant,p.Gln217Leu,ENST00000403559,NM_148900.3;FOXP2,missense_variant,p.Gln108Leu,ENST00000393491,;FOXP2,missense_variant,p.Gln197Leu,ENST00000635534,;FOXP2,missense_variant,p.Gln183Leu,ENST00000634411,;FOXP2,missense_variant,p.Gln200Leu,ENST00000393494,;FOXP2,missense_variant,p.Gln200Leu,ENST00000350908,NM_001172766.2,NM_014491.3;FOXP2,missense_variant,p.Gln201Leu,ENST00000635638,;FOXP2,missense_variant,p.Gln108Leu,ENST00000393489,;FOXP2,missense_variant,p.Gln200Leu,ENST00000378237,;FOXP2,missense_variant,p.Gln180Leu,ENST00000634623,;FOXP2,missense_variant,p.Gln224Leu,ENST00000390668,NM_001172767.2;FOXP2,missense_variant,p.Gln200Leu,ENST00000360232,NM_148899.3;FOXP2,splice_region_variant,,ENST00000393495,;FOXP2,intron_variant,,ENST00000635563,;FOXP2,downstream_gene_variant,,ENST00000452963,;FOXP2,intron_variant,,ENST00000634372,;FOXP2,downstream_gene_variant,,ENST00000459666,;FOXP2,splice_region_variant,,ENST00000441290,;FOXP2,splice_region_variant,,ENST00000412402,;FOXP2,splice_region_variant,,ENST00000635109,;FOXP2,splice_region_variant,,ENST00000440349,;	T	ENST00000408937	Transcript	missense_variant,splice_region_variant	1048/6443	674/2223	225/740	Q/L	cAg/cTg		1		1	FOXP2	HGNC	HGNC:13875	protein_coding	YES	CCDS43635.1	ENSP00000386200	O15409	X5D2H2	UPI000007412B	NM_148898.3	tolerated(0.38)		7/18		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	114631529	114631529	A	T	1	0	0	0	0	1	0	0	0	5892	202	7	4		4	FOXP2	7	114631529	Missense_Mutation	SNP	A	C3N-00293_TP	6675933	114631529	44714444	141	13315											
LMOD2	0	.	GRCh38	chr7	123662182	123662182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtggaaatcctacagtgaTtgaggacgctttggacaaga	12	11	12	6	1	0	3	0	2	0	1	1	6	1	6	1	3	1	1	1	3	3	4	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.596T>C	p.Ile199Thr	p.I199T	ENST00000458573	2/3	186	173	13	114	114	0	strelka-varscan-mutect	LMOD2,missense_variant,p.Ile199Thr,ENST00000458573,NM_207163.1;LMOD2,intron_variant,,ENST00000456238,;	C	ENST00000458573	Transcript	missense_variant	753/2346	596/1644	199/547	I/T	aTt/aCt		1		1	LMOD2	HGNC	HGNC:6648	protein_coding	YES	CCDS47693.1	ENSP00000411932	Q6P5Q4		UPI0001572CCA	NM_207163.1	deleterious(0)		2/3		hmmpanther:PTHR10901,hmmpanther:PTHR10901:SF12,Superfamily_domains:SSF52047																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	45	123662182	123662182	T	C	1	0	0	0	0	1	0	0	0	8784	1493	52	5		5	LMOD2	7	123662182	Missense_Mutation	SNP	T	C3N-00293_TP	9030653	123662182	35683791	142	13316											
GCC1	0	.	GRCh38	chr7	127584197	127584197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaaatggctcttaaggCgggcagcctcttcctgaagt	8	10	12	11	1	2	1	0	1	2	0	3	2	3	2	3	4	1	2	3	4	3	2			C3N-00293_TP	C3N-00293_NB	C	C																c.986G>T	p.Arg329Leu	p.R329L	ENST00000321407	1/2	216	192	24	153	153	0	strelka-varscan-mutect	GCC1,missense_variant,p.Arg329Leu,ENST00000321407,NM_024523.5;ARF5,upstream_gene_variant,,ENST00000000233,NM_001662.3;ARF5,upstream_gene_variant,,ENST00000415666,;GCC1,intron_variant,,ENST00000497650,;ARF5,upstream_gene_variant,,ENST00000467281,;ARF5,upstream_gene_variant,,ENST00000463733,;ARF5,upstream_gene_variant,,ENST00000489673,;ARF5,upstream_gene_variant,,ENST00000459680,;	A	ENST00000321407	Transcript	missense_variant	1411/4149	986/2328	329/775	R/L	cGc/cTc	COSM1085146	1		-1	GCC1	HGNC	HGNC:19095	protein_coding	YES	CCDS5796.1	ENSP00000318821	Q96CN9	A4D0Z4	UPI0000072BA8	NM_024523.5	tolerated(0.25)		1/2		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23157,hmmpanther:PTHR23157:SF25											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	45	127584197	127584197	C	A	1	0	0	0	0	1	0	0	0	6155	768	27	1		1	GCC1	7	127584197	Missense_Mutation	SNP	C	C3N-00293_TP	3922015	127584197	31761776	143	13317											
MGAM2	0	.	GRCh38	chr7	142154120	142154120	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattggctgggggacaatgcGgccacatgggatgacctccg	8	7	15	11	2	0	1	0	1	0	0	1	3	1	3	3	5	1	1	3	5	1	1	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1737G>T	p.=	p.A579A	ENST00000477922	16/48	79	69	10	73	73	0	strelka-varscan-mutect	MGAM2,synonymous_variant,p.=,ENST00000477922,NM_001293626.1;	T	ENST00000477922	Transcript	synonymous_variant	1791/7867	1737/7548	579/2515	A	gcG/gcT		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1			16/48		Pfam_domain:PF01055,Superfamily_domains:SSF51445																	LOW	1	SNV	5			1										PASS		rs947058820	.												T	2	4	45	142154120	142154120	G	T	1	0	0	0	0	0	0	0	1	9500	1103	39	1		1	MGAM2	7	142154120	Silent	SNP	G	C3N-00293_TP	14569923	142154120	17191853	144	13318											
EPHB6	0	.	GRCh38	chr7	142864038	142864038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcatgtcatgtggcagggGcccctccaggcaccgggcag	7	5	16	13	1	1	0	1	0	0	0	2	0	2	0	4	6	0	4	4	6	0	0	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.238G>T	p.Ala80Ser	p.A80S	ENST00000619012	7/20	414	382	32	272	272	0	strelka-varscan-mutect	EPHB6,missense_variant,p.Ala80Ser,ENST00000619012,;EPHB6,missense_variant,p.Ala80Ser,ENST00000422643,NM_004445.5;EPHB6,5_prime_UTR_variant,,ENST00000411471,NM_001280794.2,NM_001280795.2;EPHB6,downstream_gene_variant,,ENST00000497095,;EPHB6,missense_variant,p.Ala80Ser,ENST00000611578,;EPHB6,3_prime_UTR_variant,,ENST00000614832,;EPHB6,non_coding_transcript_exon_variant,,ENST00000616380,;EPHB6,upstream_gene_variant,,ENST00000486511,;	T	ENST00000619012	Transcript	missense_variant	990/4011	238/3069	80/1022	A/S	Gcc/Tcc		1		1	EPHB6	HGNC	HGNC:3396	protein_coding	YES	CCDS5873.2	ENSP00000481994		F8WCM8	UPI0003EAF8C7		tolerated(0.21)		7/20		PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF326,hmmpanther:PTHR24416,Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,SMART_domains:SM00615,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	142864038	142864038	G	T	1	0	0	0	0	1	0	0	0	5025	1203	42	2		2	EPHB6	7	142864038	Missense_Mutation	SNP	G	C3N-00293_TP	709918	142864038	16481935	145	13319											
OR6B1	0	.	GRCh38	chr7	144004128	144004128	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtggctgaaaacgtgatCatcatcctattggtgctgca	11	11	10	9	1	2	2	2	2	0	0	3	2	3	2	1	2	3	3	1	2	3	2	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.132C>A	p.=	p.I44I	ENST00000408922	1/1	305	270	35	189	189	0	strelka-varscan-mutect	OR6B1,synonymous_variant,p.=,ENST00000408922,NM_001005281.1;	A	ENST00000408922	Transcript	synonymous_variant	200/1055	132/936	44/311	I	atC/atA		1		1	OR6B1	HGNC	HGNC:8354	protein_coding	YES	CCDS43667.1	ENSP00000386151	O95007		UPI0000041B18	NM_001005281.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF284,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												A	2	1	45	144004128	144004128	C	A	1	0	0	0	0	0	0	0	1	11255	816	29	2		2	OR6B1	7	144004128	Silent	SNP	C	C3N-00293_TP	1140090	144004128	15341845	146	13320											
NOM1	0	.	GRCh38	chr7	156969645	156969645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgacgaagccaacgtgctgaGagagaaagctgaccttgcaa	14	5	12	10	3	0	3	0	2	0	2	0	7	0	3	2	0	5	3	2	0	4	1	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.2525G>A	p.Arg842Lys	p.R842K	ENST00000275820	11/11	275	259	16	213	213	0	strelka-varscan-mutect	NOM1,missense_variant,p.Arg842Lys,ENST00000275820,NM_138400.1;NOM1,non_coding_transcript_exon_variant,,ENST00000486131,;NOM1,downstream_gene_variant,,ENST00000485661,;	A	ENST00000275820	Transcript	missense_variant	2540/6077	2525/2583	842/860	R/K	aGa/aAa		1		1	NOM1	HGNC	HGNC:13244	protein_coding	YES	CCDS34787.1	ENSP00000275820	Q5C9Z4		UPI000020E71F	NM_138400.1	tolerated(0.74)		11/11		hmmpanther:PTHR18034,hmmpanther:PTHR18034:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	156969645	156969645	G	A	1	0	0	0	0	1	0	0	0	10574	942	33	3		3	NOM1	7	156969645	Missense_Mutation	SNP	G	C3N-00293_TP	12965517	156969645	2376328	147	13321											
CSMD1	0	.	GRCh38	chr8	3190023	3190023	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggttgcactcgaatcggaCgatggagccggcagaaaact	11	6	14	10	5	0	1	0	0	0	1	2	5	0	3	1	4	3	3	1	4	3	1	rs752235970		C3N-00293_TP	C3N-00293_NB	C	C																c.5290G>C	p.Val1764Leu	p.V1764L	ENST00000520002	35/71	407	342	65	349	349	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Val1625Leu,ENST00000537824,;CSMD1,missense_variant,p.Val1244Leu,ENST00000335551,;CSMD1,missense_variant,p.Val1764Leu,ENST00000520002,;CSMD1,missense_variant,p.Val1764Leu,ENST00000602557,;CSMD1,missense_variant,p.Val1763Leu,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Val1764Leu,ENST00000400186,;CSMD1,missense_variant,p.Val1764Leu,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	G	ENST00000520002	Transcript	missense_variant	5846/11740	5290/10698	1764/3565	V/L	Gtc/Ctc	rs752235970,COSM4168593,COSM4168594,COSM4168595	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		tolerated(0.1)		35/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535											0,1,1,1						MODERATE	1	SNV	5		0,1,1,1	1										PASS		rs752235970	.												G	3	3	45	3190023	3190023	C	G	1	0	0	0	0	1	0	0	0	3745	536	19	4		4	CSMD1	8	3190023	Missense_Mutation	SNP	C	C3N-00293_TP		3190023	141948613	148	13322											
GFRA2	0	.	GRCh38	chr8	21750789	21750789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagggccttgtggcacttgCggcggttgcagcgctcggtg	3	9	18	11	4	0	0	0	0	0	0	1	0	0	0	1	5	3	5	1	5	0	3	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.593G>A	p.Arg198His	p.R198H	ENST00000524240	4/9	575	525	50	499	499	0	strelka-varscan-mutect	GFRA2,missense_variant,p.Arg198His,ENST00000524240,NM_001495.4;GFRA2,missense_variant,p.Arg198His,ENST00000517328,;GFRA2,missense_variant,p.Arg65His,ENST00000518077,NM_001165039.1;GFRA2,missense_variant,p.Arg93His,ENST00000517892,NM_001165038.1;GFRA2,missense_variant,p.Arg198His,ENST00000522071,;GFRA2,3_prime_UTR_variant,,ENST00000306793,;	T	ENST00000524240	Transcript	missense_variant	1244/4921	593/1395	198/464	R/H	cGc/cAc		1		-1	GFRA2	HGNC	HGNC:4244	protein_coding	YES	CCDS47816.1	ENSP00000428518	O00451		UPI000000D9B1	NM_001495.4	deleterious(0)		4/9		hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF4,PIRSF_domain:PIRSF038071,Pfam_domain:PF02351,SMART_domains:SM00907,Prints_domain:PR01316																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	21750789	21750789	C	T	1	0	0	0	0	1	0	0	0	6222	768	27	1		1	GFRA2	8	21750789	Missense_Mutation	SNP	C	C3N-00293_TP	18560766	21750789	123387847	149	13323											
CYP7B1	0	.	GRCh38	chr8	64624488	64624488	+	Silent	SNP	C	C	A																															tcttttcgtaagttcaggacCactccaagataaggaagcca																										C3N-00293_TP	C3N-00293_NB	C	C																c.174G>T	p.=	p.V58V	ENST00000310193	2/6	481	429	52	280	280	0	strelka-varscan-mutect	CYP7B1,synonymous_variant,p.=,ENST00000310193,NM_004820.3;	A	ENST00000310193	Transcript	synonymous_variant	348/2202	174/1521	58/506	V	gtG/gtT	COSM3650178,COSM606005	1		-1	CYP7B1	HGNC	HGNC:2652	protein_coding	YES	CCDS6180.1	ENSP00000310721	O75881		UPI0000128218	NM_004820.3			2/6		hmmpanther:PTHR24304:SF0,hmmpanther:PTHR24304,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00465											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	45	64624488	64624488	C	A	1	0	0	0	0	0	0	0	1	4000	581	21	2		2	CYP7B1	8	64624488	Silent	SNP	C	C3N-00293_TP	42873699	64624488	80514148	150	13324	307	2									
CYP7B1	0	.	GRCh38	chr8	64624489	64624489	+	Missense_Mutation	SNP	A	A	C																															cttttcgtaagttcaggaccActccaagataaggaagccaa																								novel		C3N-00293_TP	C3N-00293_NB	A	A																c.173T>G	p.Val58Gly	p.V58G	ENST00000310193	2/6	480	429	51	277	277	0	strelka-varscan-mutect	CYP7B1,missense_variant,p.Val58Gly,ENST00000310193,NM_004820.3;	C	ENST00000310193	Transcript	missense_variant	347/2202	173/1521	58/506	V/G	gTg/gGg		1		-1	CYP7B1	HGNC	HGNC:2652	protein_coding	YES	CCDS6180.1	ENSP00000310721	O75881		UPI0000128218	NM_004820.3	tolerated(0.38)		2/6		hmmpanther:PTHR24304:SF0,hmmpanther:PTHR24304,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00465																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	64624489	64624489	A	C	1	0	0	0	0	1	0	0	0	4000	159	6	5		5	CYP7B1	8	64624489	Missense_Mutation	SNP	A	C3N-00293_TP	1	64624489	80514147	151	13325	307	2									
C8orf34	0	.	GRCh38	chr8	68439631	68439631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatctgcagctctatgggcaGaaagtgaaaaatcaggtaaa	16	8	11	6	0	3	2	1	1	2	1	3	3	3	2	0	2	2	4	0	2	6	2	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.460G>C	p.Glu154Gln	p.E154Q	ENST00000518698	2/14	163	147	16	90	90	0	varscan-mutect	C8orf34,missense_variant,p.Glu43Gln,ENST00000337103,;C8orf34,missense_variant,p.Glu68Gln,ENST00000348340,NM_001195639.1;C8orf34,missense_variant,p.Glu154Gln,ENST00000518698,NM_052958.2;C8orf34,missense_variant,p.Glu68Gln,ENST00000523686,;C8orf34,non_coding_transcript_exon_variant,,ENST00000349492,;C8orf34,missense_variant,p.Glu43Gln,ENST00000521406,;	C	ENST00000518698	Transcript	missense_variant	751/2223	460/1617	154/538	E/Q	Gaa/Caa		1		1	C8orf34	HGNC	HGNC:30905	protein_coding	YES	CCDS6203.2	ENSP00000427820	Q49A92		UPI000021D12D	NM_052958.2	tolerated(0.24)		2/14		hmmpanther:PTHR32000,hmmpanther:PTHR32000:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	45	68439631	68439631	G	C	1	0	0	0	0	1	0	0	0	2155	943	33	4		4	C8orf34	8	68439631	Missense_Mutation	SNP	G	C3N-00293_TP	3815142	68439631	76699005	152	13326											
KCNB2	0	.	GRCh38	chr8	72937579	72937579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccactgccagtcaccacaGctgacttttcgctcactacc	8	9	7	17	1	2	1	2	1	0	0	3	1	2	1	4	1	3	2	4	1	1	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.2224G>A	p.Ala742Thr	p.A742T	ENST00000523207	3/3	231	215	16	189	189	0	strelka-varscan-mutect	KCNB2,missense_variant,p.Ala742Thr,ENST00000523207,NM_004770.2;	A	ENST00000523207	Transcript	missense_variant	2812/3582	2224/2736	742/911	A/T	Gct/Act		1		1	KCNB2	HGNC	HGNC:6232	protein_coding	YES	CCDS6209.1	ENSP00000430846	Q92953		UPI000012DC85	NM_004770.2	tolerated_low_confidence(0.46)		3/3		Pfam_domain:PF03521																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	72937579	72937579	G	A	1	0	0	0	0	1	0	0	0	7929	971	34	3		3	KCNB2	8	72937579	Missense_Mutation	SNP	G	C3N-00293_TP	4497948	72937579	72201057	153	13327											
NBN	0	.	GRCh38	chr8	89937064	89937064	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagactcttcttttgcatgTtgattttgtacctgtcaaaa	10	17	7	7	0	3	2	1	1	2	1	3	3	3	2	1	0	2	3	1	0	3	7	rs587780780		C3N-00293_TP	C3N-00293_NB	T	T																c.2196A>G	p.=	p.Q732Q	ENST00000265433	15/16	308	262	46	191	191	0	strelka-varscan-mutect	NBN,synonymous_variant,p.=,ENST00000265433,NM_002485.4;NBN,synonymous_variant,p.=,ENST00000409330,;NBN,synonymous_variant,p.=,ENST00000613033,;NBN,3_prime_UTR_variant,,ENST00000396252,NM_001024688.2;NBN,non_coding_transcript_exon_variant,,ENST00000474821,;	C	ENST00000265433	Transcript	synonymous_variant	2351/4666	2196/2265	732/754	Q	caA/caG	rs587780780,COSM3699203	1		-1	NBN	HGNC	HGNC:7652	protein_coding	YES	CCDS6249.1	ENSP00000265433	O60934		UPI0000073BF4	NM_002485.4			15/16		hmmpanther:PTHR12162,hmmpanther:PTHR12162:SF0,PIRSF_domain:PIRSF011869,Pfam_domain:PF08599,SMART_domains:SM01348										likely_benign	0,1						LOW	1	SNV	1		1,1	1										PASS		rs587780780	.												C	2	2	45	89937064	89937064	T	C	1	0	0	0	0	0	0	0	1	10202	1722	60	5		5	NBN	8	89937064	Silent	SNP	T	C3N-00293_TP	16999485	89937064	55201572	154	13328											
PKHD1L1	0	.	GRCh38	chr8	109440834	109440834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattcagcacaataccagctGagaataccgtgctgttaggt	12	10	10	9	1	1	1	1	1	0	1	1	3	1	1	2	1	5	4	2	1	5	4	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.4081G>A	p.Glu1361Lys	p.E1361K	ENST00000378402	33/78	139	121	18	71	71	0	strelka-varscan-mutect	PKHD1L1,missense_variant,p.Glu1361Lys,ENST00000378402,NM_177531.4;	A	ENST00000378402	Transcript	missense_variant	4185/13076	4081/12732	1361/4243	E/K	Gag/Aag		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	tolerated(0.18)		33/78		Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	109440834	109440834	G	A	1	0	0	0	0	1	0	0	0	12068	1291	45	3		3	PKHD1L1	8	109440834	Missense_Mutation	SNP	G	C3N-00293_TP	19503770	109440834	35697802	155	13329											
GLI4	0	.	GRCh38	chr8	143276788	143276788	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatccagcaccagcgggTgcactaccgcgagtagccgg	8	5	13	15	4	1	0	1	0	0	0	2	1	2	0	4	2	5	4	4	2	2	2	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.1115T>A	p.Val372Glu	p.V372E	ENST00000340042	4/4	90	81	9	50	50	0	strelka-varscan-mutect	GLI4,missense_variant,p.Val372Glu,ENST00000340042,NM_138465.3;GLI4,missense_variant,p.Val372Glu,ENST00000523522,;RP13-582O9.6,downstream_gene_variant,,ENST00000522452,;GLI4,downstream_gene_variant,,ENST00000521682,;GLI4,downstream_gene_variant,,ENST00000344692,;GLI4,downstream_gene_variant,,ENST00000517468,;GLI4,downstream_gene_variant,,ENST00000517530,;GLI4,downstream_gene_variant,,ENST00000520021,;MINCR,downstream_gene_variant,,ENST00000523031,;MINCR,downstream_gene_variant,,ENST00000517411,;MINCR,downstream_gene_variant,,ENST00000524335,;MINCR,downstream_gene_variant,,ENST00000521207,;MINCR,downstream_gene_variant,,ENST00000518073,;MINCR,downstream_gene_variant,,ENST00000519852,;GLI4,non_coding_transcript_exon_variant,,ENST00000523812,;GLI4,downstream_gene_variant,,ENST00000519876,;GLI4,downstream_gene_variant,,ENST00000522479,;GLI4,downstream_gene_variant,,ENST00000522033,;	A	ENST00000340042	Transcript	missense_variant	1200/1341	1115/1131	372/376	V/E	gTg/gAg		1		1	GLI4	HGNC	HGNC:4320	protein_coding	YES	CCDS6398.1	ENSP00000345024	P10075		UPI0000070432	NM_138465.3	deleterious(0)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF122,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	143276788	143276788	T	A	1	0	0	0	0	1	0	0	0	6318	1696	59	4		4	GLI4	8	143276788	Missense_Mutation	SNP	T	C3N-00293_TP	33835954	143276788	1861848	156	13330											
PTPRD	0	.	GRCh38	chr9	8500817	8500817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccgacatctgtatgggCtgtcacagtgatccggtatt	8	11	13	9	2	2	1	1	1	1	0	3	2	3	1	2	3	0	3	2	3	2	3	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.2065G>A	p.Ala689Thr	p.A689T	ENST00000381196	21/43	252	235	17	174	174	0	strelka-varscan-mutect	PTPRD,missense_variant,p.Ala689Thr,ENST00000381196,NM_002839.3;PTPRD,missense_variant,p.Ala689Thr,ENST00000356435,;PTPRD,missense_variant,p.Ala689Thr,ENST00000540109,;PTPRD,intron_variant,,ENST00000355233,NM_130392.3;PTPRD,intron_variant,,ENST00000397617,;PTPRD,intron_variant,,ENST00000397611,NM_001040712.2;PTPRD,intron_variant,,ENST00000537002,NM_130393.3;PTPRD,intron_variant,,ENST00000486161,NM_130391.3;PTPRD,intron_variant,,ENST00000397606,NM_001171025.1;PTPRD,non_coding_transcript_exon_variant,,ENST00000471274,;	T	ENST00000381196	Transcript	missense_variant	2609/9911	2065/5739	689/1912	A/T	Gcc/Acc		1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3	deleterious(0.01)		21/43		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	45	8500817	8500817	C	T	1	0	0	0	0	1	0	0	0	12953	797	28	3		3	PTPRD	9	8500817	Missense_Mutation	SNP	C	C3N-00293_TP		8500817	129893900	157	13331											
OR13C4	0	.	GRCh38	chr9	104527149	104527149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaaatgatctcaagtttggGgtaaccagagagtcccagaa	15	8	11	7	0	1	3	1	1	1	2	3	5	2	3	2	2	1	2	2	2	5	2	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.61C>A	p.Pro21Thr	p.P21T	ENST00000277216	1/1	231	184	47	102	102	0	strelka-varscan-mutect	OR13C4,missense_variant,p.Pro21Thr,ENST00000277216,NM_001001919.1;RP11-317C20.9,intron_variant,,ENST00000635678,;	T	ENST00000277216	Transcript	missense_variant	61/957	61/957	21/318	P/T	Ccc/Acc		1		-1	OR13C4	HGNC	HGNC:14722	protein_coding	YES	CCDS35088.1	ENSP00000277216	Q8NGS5	A0A126GVC9	UPI0000041B46	NM_001001919.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF14,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												T	3	4	45	104527149	104527149	G	T	1	0	0	0	0	1	0	0	0	11012	1232	43	2		2	OR13C4	9	104527149	Missense_Mutation	SNP	G	C3N-00293_TP	96026332	104527149	33867568	158	13332											
ASTN2	0	.	GRCh38	chr9	117414537	117414537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgttgtccaggtcgtcCtgcaccgcgatgcgccccgg	3	9	14	15	6	0	0	0	0	0	0	4	1	2	0	5	3	2	2	5	3	0	1	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.402G>T	p.Gln134His	p.Q134H	ENST00000361209	1/22	293	276	17	268	268	0	strelka-varscan-mutect	ASTN2,missense_variant,p.Gln134His,ENST00000313400,;ASTN2,missense_variant,p.Gln134His,ENST00000361209,NM_014010.4;ASTN2,5_prime_UTR_variant,,ENST00000361477,NM_198187.3;	A	ENST00000361209	Transcript	missense_variant	534/4622	402/3867	134/1288	Q/H	caG/caT		1		-1	ASTN2	HGNC	HGNC:17021	protein_coding	YES	CCDS6815.1	ENSP00000354504	O75129		UPI00002116D7	NM_014010.4	tolerated_low_confidence(0.13)		1/22		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	117414537	117414537	C	A	1	0	0	0	0	1	0	0	0	1212	680	24	2		2	ASTN2	9	117414537	Missense_Mutation	SNP	C	C3N-00293_TP	12887388	117414537	20980180	159	13333											
BRINP1	0	.	GRCh38	chr9	119167464	119167464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccgacaggtccacggggcCctggccagtctcatttcgca	7	8	11	15	3	1	0	1	0	1	0	5	1	3	0	4	4	0	1	4	4	0	1	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1906G>T	p.Gly636Cys	p.G636C	ENST00000265922	8/8	215	192	23	141	140	1	strelka-varscan-mutect	BRINP1,missense_variant,p.Gly636Cys,ENST00000265922,NM_014618.2;BRINP1,intron_variant,,ENST00000482797,;	A	ENST00000265922	Transcript	missense_variant	2368/3202	1906/2286	636/761	G/C	Ggc/Tgc		1		-1	BRINP1	HGNC	HGNC:2687	protein_coding	YES	CCDS6822.1	ENSP00000265922	O60477		UPI000013D6A7	NM_014618.2	deleterious(0.02)		8/8		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	119167464	119167464	C	A	1	0	0	0	0	1	0	0	0	1685	623	22	2		2	BRINP1	9	119167464	Missense_Mutation	SNP	C	C3N-00293_TP	1752927	119167464	19227253	160	13334											
LHX6	0	.	GRCh38	chr9	122204745	122204745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcgcccacgggcagatgcgGaagtgccggcagcgttagta	8	5	17	11	5	0	1	0	0	0	1	0	2	0	2	2	4	3	4	2	4	3	2	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1090C>G	p.Pro364Ala	p.P364A	ENST00000340587	9/9	114	107	7	104	104	0	strelka-varscan-mutect	LHX6,missense_variant,p.Pro364Ala,ENST00000340587,NM_199160.3;LHX6,missense_variant,p.Pro335Ala,ENST00000373754,;LHX6,missense_variant,p.Pro353Ala,ENST00000541397,NM_001242333.1;LHX6,missense_variant,p.Pro22Ala,ENST00000464484,;LHX6,3_prime_UTR_variant,,ENST00000559895,NM_001242335.1;LHX6,3_prime_UTR_variant,,ENST00000394319,NM_014368.4;LHX6,3_prime_UTR_variant,,ENST00000373755,NM_001242334.1;LHX6,3_prime_UTR_variant,,ENST00000482062,;MORN5,downstream_gene_variant,,ENST00000373764,NM_198469.3;MORN5,downstream_gene_variant,,ENST00000536616,NM_001286828.1;MORN5,downstream_gene_variant,,ENST00000486801,;	C	ENST00000340587	Transcript	missense_variant	1291/3457	1090/1134	364/377	P/A	Ccg/Gcg		1		-1	LHX6	HGNC	HGNC:21735	protein_coding		CCDS6837.2	ENSP00000340137	Q9UPM6		UPI0000F58F26	NM_199160.3	tolerated(0.05)		9/9																			MODERATE		SNV	1			1										PASS		.	.												C	3	2	45	122204745	122204745	G	C	1	0	0	0	0	1	0	0	0	8684	1174	41	4		4	LHX6	9	122204745	Missense_Mutation	SNP	G	C3N-00293_TP	3037281	122204745	16189972	161	13335											
FAM208B	0	.	GRCh38	chr10	5757584	5757584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctggagtagacagccctgGagatgttcttgatcacacct	9	11	11	10	0	2	3	1	1	1	2	2	5	2	4	2	2	2	3	2	2	1	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.6797G>A	p.Gly2266Glu	p.G2266E	ENST00000328090	17/21	273	257	16	166	166	0	strelka-varscan-mutect	FAM208B,missense_variant,p.Gly2266Glu,ENST00000328090,NM_001321784.1,NM_001321783.1,NM_017782.4;FAM208B,upstream_gene_variant,,ENST00000459693,;FAM208B,upstream_gene_variant,,ENST00000487196,;	A	ENST00000328090	Transcript	missense_variant	7422/8626	6797/7293	2266/2430	G/E	gGa/gAa		1		1	FAM208B	HGNC	HGNC:23484	protein_coding	YES	CCDS41485.1	ENSP00000328426	Q5VWN6		UPI00004589BB	NM_001321784.1,NM_001321783.1,NM_017782.4	tolerated(1)		17/21		hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	5757584	5757584	G	A	1	0	0	0	0	1	0	0	0	5390	1174	41	3		3	FAM208B	10	5757584	Missense_Mutation	SNP	G	C3N-00293_TP		5757584	128039838	162	13336											
SKIDA1	0	.	GRCh38	chr10	21517127	21517127	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggcggcagcagcGgcggcggcggcggcggcggc	2	0	25	14	11	0	0	0	0	0	0	0	0	0	0	0	11	2	2	0	11	0	0	rs763904059		C3N-00293_TP	C3N-00293_NB	G	G																c.696C>T	p.=	p.A232A	ENST00000449193	4/4	73	64	9	44	44	0	varscan-mutect	SKIDA1,synonymous_variant,p.=,ENST00000449193,NM_207371.3;SKIDA1,intron_variant,,ENST00000444772,;SKIDA1,downstream_gene_variant,,ENST00000633225,;SKIDA1,downstream_gene_variant,,ENST00000487107,;	A	ENST00000449193	Transcript	synonymous_variant	2949/6598	696/2727	232/908	A	gcC/gcT	rs763904059,COSM5483460,COSM5483461	1		-1	SKIDA1	HGNC	HGNC:32697	protein_coding	YES	CCDS44363.1	ENSP00000410041		E9PAX1	UPI00015386B3	NM_207371.3			4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR23187:SF2,hmmpanther:PTHR23187											0,1,1						LOW	1	SNV	3		0,1,1	1										PASS		rs763904059	.												A	2	1	45	21517127	21517127	G	A	1	0	0	0	0	0	0	0	1	14620	1103	39	1		1	SKIDA1	10	21517127	Silent	SNP	G	C3N-00293_TP	15759543	21517127	112280295	163	13337											
ARHGAP21	0	.	GRCh38	chr10	24585920	24585920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcactttcttttttggactCctctttagtatcattgtgac	6	20	5	10	0	4	1	2	1	2	0	5	2	5	2	1	1	0	1	1	1	2	8	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.4369G>A	p.Glu1457Lys	p.E1457K	ENST00000396432	26/26	309	277	32	202	201	1	varscan-mutect	ARHGAP21,missense_variant,p.Glu1457Lys,ENST00000396432,NM_020824.3;ARHGAP21,missense_variant,p.Glu905Lys,ENST00000612832,;ARHGAP21,missense_variant,p.Glu906Lys,ENST00000320481,;ARHGAP21,downstream_gene_variant,,ENST00000636789,;ARHGAP21,downstream_gene_variant,,ENST00000418033,;ARHGAP21,3_prime_UTR_variant,,ENST00000638156,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000486374,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000477190,;	T	ENST00000396432	Transcript	missense_variant	4856/7167	4369/5877	1457/1958	E/K	Gag/Aag		1		-1	ARHGAP21	HGNC	HGNC:23725	protein_coding	YES	CCDS7144.2	ENSP00000379709	Q5T5U3		UPI0001639C78	NM_020824.3	deleterious(0.02)		26/26		Low_complexity_(Seg):seg,hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	24585920	24585920	C	T	1	0	0	0	0	1	0	0	0	995	864	30	3		3	ARHGAP21	10	24585920	Missense_Mutation	SNP	C	C3N-00293_TP	3068793	24585920	109211502	164	13338											
ALOX5	0	.	GRCh38	chr10	45424132	45424132	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatctttgtcaagatcAgcaacactatttctggtgag	14	12	8	7	0	4	3	2	1	2	2	4	3	4	3	0	1	2	1	0	1	5	3	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.646A>T	p.Ser216Cys	p.S216C	ENST00000374391	5/14	162	145	17	136	136	0	strelka-varscan-mutect	ALOX5,missense_variant,p.Ser216Cys,ENST00000374391,NM_001256153.1,NM_000698.3;ALOX5,missense_variant,p.Ser216Cys,ENST00000542434,NM_001256154.1;ALOX5,3_prime_UTR_variant,,ENST00000612635,;ALOX5,non_coding_transcript_exon_variant,,ENST00000483623,;	T	ENST00000374391	Transcript	missense_variant	699/2506	646/2025	216/674	S/C	Agc/Tgc		1		1	ALOX5	HGNC	HGNC:435	protein_coding	YES	CCDS7212.1	ENSP00000363512	P09917		UPI0000043F84	NM_001256153.1,NM_000698.3	deleterious(0)		5/14		PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF5,hmmpanther:PTHR11771,Superfamily_domains:SSF48484,Prints_domain:PR00467																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	45424132	45424132	A	T	1	0	0	0	0	1	0	0	0	640	188	7	4		4	ALOX5	10	45424132	Missense_Mutation	SNP	A	C3N-00293_TP	20838212	45424132	88373290	165	13339											
ALOX5	0	.	GRCh38	chr10	45441359	45441359	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctgctggtggcacacGtgagattcaccattgcaatc	9	9	10	13	1	1	1	1	1	0	1	2	2	1	1	2	2	3	4	2	2	1	2	rs755046400		C3N-00293_TP	C3N-00293_NB	G	G																c.1201G>C	p.Val401Leu	p.V401L	ENST00000374391	9/14	196	174	22	146	146	0	strelka-mutect	ALOX5,missense_variant,p.Val401Leu,ENST00000374391,NM_001256153.1,NM_000698.3;ALOX5,missense_variant,p.Val401Leu,ENST00000542434,NM_001256154.1;ALOX5,3_prime_UTR_variant,,ENST00000612635,;RP11-67C2.2,downstream_gene_variant,,ENST00000435635,;ALOX5,non_coding_transcript_exon_variant,,ENST00000475300,;ALOX5,upstream_gene_variant,,ENST00000493336,;ALOX5,upstream_gene_variant,,ENST00000498461,;ALOX5,upstream_gene_variant,,ENST00000481117,;	C	ENST00000374391	Transcript	missense_variant	1254/2506	1201/2025	401/674	V/L	Gtg/Ctg	rs755046400	1		1	ALOX5	HGNC	HGNC:435	protein_coding	YES	CCDS7212.1	ENSP00000363512	P09917		UPI0000043F84	NM_001256153.1,NM_000698.3	tolerated(0.4)		9/14		PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF5,hmmpanther:PTHR11771,Gene3D:1.20.245.10,Pfam_domain:PF00305,Superfamily_domains:SSF48484,Prints_domain:PR00087																	MODERATE	1	SNV	1			1										PASS		rs755046400	.												C	3	2	45	45441359	45441359	G	C	1	0	0	0	0	1	0	0	0	640	1145	40	4		4	ALOX5	10	45441359	Missense_Mutation	SNP	G	C3N-00293_TP	17227	45441359	88356063	166	13340											
MARCH8	0	.	GRCh38	chr10	45463790	45463790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttgagaactttagtgttCttctggctttggtattctta	7	19	8	7	0	3	1	0	1	3	1	3	2	3	1	1	2	1	3	1	2	4	9	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.449G>A	p.Arg150Lys	p.R150K	ENST00000453424	5/8	330	295	35	184	184	0	strelka-varscan-mutect	MARCH8,missense_variant,p.Arg150Lys,ENST00000453424,NM_001282866.1;MARCH8,intron_variant,,ENST00000319836,NM_145021.5;MARCH8,intron_variant,,ENST00000395769,NM_001002266.2;MARCH8,intron_variant,,ENST00000453980,;MARCH8,upstream_gene_variant,,ENST00000476962,;MARCH8,intron_variant,,ENST00000602712,;	T	ENST00000453424	Transcript	missense_variant	711/5638	449/1722	150/573	R/K	aGa/aAa		1		-1	MARCH8	HGNC	HGNC:23356	protein_coding	YES	CCDS60519.1	ENSP00000411848	Q5T0T0		UPI0000EE77CA	NM_001282866.1	tolerated_low_confidence(0.19)		5/8																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	45463790	45463790	C	T	1	0	0	0	0	1	0	0	0	9232	913	32	3		3	MARCH8	10	45463790	Missense_Mutation	SNP	C	C3N-00293_TP	22431	45463790	88333632	167	13341											
AGAP14P	0	.	GRCh38	chr10	46357640	46357640	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaagaatattcataaaaaAgagattgaccttcggacatc	18	10	7	6	1	1	4	1	2	0	2	3	6	1	5	1	1	0	0	1	1	6	5	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.984A>T	p.Lys328Asn	p.K328N	ENST00000624701	9/9	371	318	53	263	263	0	varscan-mutect	AGAP14P,missense_variant,p.Lys328Asn,ENST00000624701,;	T	ENST00000624701	Transcript	missense_variant	984/2058	984/2058	328/685	K/N	aaA/aaT		1		1	AGAP14P	HGNC	HGNC:23660	protein_coding	YES		ENSP00000485140		A0A096LNP0	UPI000514C5BF		deleterious(0)		9/9		PROSITE_profiles:PS50003,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	5			1										PASS		rs1387094633	.												T	3	4	45	46357640	46357640	A	T	1	0	0	0	0	1	0	0	0	444	69	3	4		4	AGAP14P	10	46357640	Missense_Mutation	SNP	A	C3N-00293_TP	893850	46357640	87439782	168	13342											
OIT3	0	.	GRCh38	chr10	72898736	72898736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaccaccagttggatgagtCtcaaggtcctcctctatgtg	8	12	10	11	0	2	2	1	2	2	0	5	3	4	3	4	2	0	1	4	2	2	2	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.134C>T	p.Ser45Phe	p.S45F	ENST00000334011	2/9	194	184	10	141	141	0	strelka-varscan-mutect	OIT3,missense_variant,p.Ser45Phe,ENST00000334011,NM_152635.2;OIT3,missense_variant,p.Ser45Phe,ENST00000622652,;	T	ENST00000334011	Transcript	missense_variant	352/2365	134/1638	45/545	S/F	tCt/tTt		1		1	OIT3	HGNC	HGNC:29953	protein_coding	YES	CCDS7318.1	ENSP00000333900	Q8WWZ8		UPI00000389F9	NM_152635.2	deleterious(0)		2/9		hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF326																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	72898736	72898736	C	T	1	0	0	0	0	1	0	0	0	10924	913	32	3		3	OIT3	10	72898736	Missense_Mutation	SNP	C	C3N-00293_TP	26541096	72898736	60898686	169	13343											
ZSWIM8	0	.	GRCh38	chr10	73799113	73799113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagtggttctggctgtatGagcaaactgcaggtggctca	9	10	13	9	0	2	1	1	1	1	0	2	1	2	1	1	4	3	6	1	4	2	2	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.4288G>C	p.Glu1430Gln	p.E1430Q	ENST00000398706	21/26	251	237	14	187	187	0	strelka-varscan-mutect	ZSWIM8,missense_variant,p.Glu1430Gln,ENST00000604729,;ZSWIM8,missense_variant,p.Glu1430Gln,ENST00000398706,NM_015037.3;ZSWIM8,missense_variant,p.Glu1425Gln,ENST00000605216,NM_001242487.1;ZSWIM8,missense_variant,p.Glu1392Gln,ENST00000603114,NM_001242488.1;ZSWIM8,missense_variant,p.Glu765Gln,ENST00000603187,;ZSWIM8,missense_variant,p.Glu700Gln,ENST00000412198,;ZSWIM8,missense_variant,p.Glu698Gln,ENST00000604754,;ZSWIM8,intron_variant,,ENST00000604524,;NDST2,downstream_gene_variant,,ENST00000309979,NM_003635.3;NDST2,downstream_gene_variant,,ENST00000299641,;ZSWIM8,upstream_gene_variant,,ENST00000466354,;NDST2,downstream_gene_variant,,ENST00000429742,;ZSWIM8-AS1,intron_variant,,ENST00000456638,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000603409,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000604165,;ZSWIM8,downstream_gene_variant,,ENST00000431225,;ZSWIM8,upstream_gene_variant,,ENST00000603840,;ZSWIM8,upstream_gene_variant,,ENST00000603309,;ZSWIM8,downstream_gene_variant,,ENST00000489234,;ZSWIM8,upstream_gene_variant,,ENST00000603195,;ZSWIM8,downstream_gene_variant,,ENST00000425051,;ZSWIM8,downstream_gene_variant,,ENST00000487278,;ZSWIM8,upstream_gene_variant,,ENST00000466568,;ZSWIM8,3_prime_UTR_variant,,ENST00000433366,;ZSWIM8,3_prime_UTR_variant,,ENST00000492395,;RP11-574K11.31,intron_variant,,ENST00000603027,;RP11-574K11.31,intron_variant,,ENST00000603706,;	C	ENST00000398706	Transcript	missense_variant	4543/6062	4288/5529	1430/1842	E/Q	Gag/Cag		1		1	ZSWIM8	HGNC	HGNC:23528	protein_coding	YES	CCDS44440.1	ENSP00000381693	A7E2V4		UPI0000ED938E	NM_015037.3	tolerated(0.06)		21/26		hmmpanther:PTHR22619																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	45	73799113	73799113	G	C	1	0	0	0	0	1	0	0	0	18848	1291	45	4		4	ZSWIM8	10	73799113	Missense_Mutation	SNP	G	C3N-00293_TP	900377	73799113	59998309	170	13344											
LRIT1	0	.	GRCh38	chr10	84232819	84232819	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagttcttggcttggcagAtgtagtctccggagtcaagg	8	11	15	7	1	3	1	1	0	2	1	4	3	3	3	1	5	0	4	1	5	3	4	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.980T>A	p.Ile327Asn	p.I327N	ENST00000372105	4/4	227	209	18	187	187	0	strelka-varscan-mutect	LRIT1,missense_variant,p.Ile327Asn,ENST00000372105,NM_015613.2;	T	ENST00000372105	Transcript	missense_variant	1002/2228	980/1872	327/623	I/N	aTc/aAc		1		-1	LRIT1	HGNC	HGNC:23404	protein_coding	YES	CCDS7373.1	ENSP00000361177	Q9P2V4		UPI000006F66C	NM_015613.2	deleterious(0.03)		4/4		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF9,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	84232819	84232819	A	T	1	0	0	0	0	1	0	0	0	8842	333	12	4		4	LRIT1	10	84232819	Missense_Mutation	SNP	A	C3N-00293_TP	10433706	84232819	49564603	171	13345											
GRID1	0	.	GRCh38	chr10	85869166	85869166	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccagatccaggatctcCgggtcactgatttcctagaa	10	10	10	11	1	2	3	1	1	1	2	5	5	4	5	4	3	0	0	4	3	2	2	rs758170958		C3N-00293_TP	C3N-00293_NB	C	C																c.795G>C	p.=	p.P265P	ENST00000327946	6/16	186	166	20	163	163	0	strelka-varscan-mutect	GRID1,synonymous_variant,p.=,ENST00000327946,NM_017551.2;GRID1,synonymous_variant,p.=,ENST00000464741,;	G	ENST00000327946	Transcript	synonymous_variant	881/5834	795/3030	265/1009	P	ccG/ccC	rs758170958	1		-1	GRID1	HGNC	HGNC:4575	protein_coding	YES	CCDS31236.1	ENSP00000330148	Q9ULK0		UPI00001D8051	NM_017551.2			6/16		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF108,Superfamily_domains:SSF53822																	LOW	1	SNV	2			1										PASS		rs758170958	.												G	2	3	45	85869166	85869166	C	G	1	0	0	0	0	0	0	0	1	6651	639	23	4		4	GRID1	10	85869166	Silent	SNP	C	C3N-00293_TP	1636347	85869166	47928256	172	13346											
IFIT1	0	.	GRCh38	chr10	89403335	89403335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaatgtatatagaagcaGgcaatcacagaaaagctgaa	20	6	9	6	0	1	4	1	1	0	3	1	4	1	4	0	1	2	4	0	1	10	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1060G>T	p.Gly354Cys	p.G354C	ENST00000371804	2/2	212	193	19	85	85	0	strelka-varscan-mutect	IFIT1,missense_variant,p.Gly323Cys,ENST00000546318,NM_001270927.1,NM_001270928.1,NM_001270930.1,NM_001270929.1;IFIT1,missense_variant,p.Gly354Cys,ENST00000371804,NM_001548.4;LIPA,intron_variant,,ENST00000371837,;	T	ENST00000371804	Transcript	missense_variant	1227/1880	1060/1437	354/478	G/C	Ggc/Tgc		1		1	IFIT1	HGNC	HGNC:5407	protein_coding	YES	CCDS31243.1	ENSP00000360869	P09914		UPI0000169E8F	NM_001548.4	deleterious(0)		2/2		PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR10271,hmmpanther:PTHR10271:SF16,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	89403335	89403335	G	T	1	0	0	0	0	1	0	0	0	7421	1000	35	2		2	IFIT1	10	89403335	Missense_Mutation	SNP	G	C3N-00293_TP	3534169	89403335	44394087	173	13347											
IDE	0	.	GRCh38	chr10	92510108	92510108	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcaatggaacatttttgTtctctacttcagaaaataac	13	14	6	8	0	2	1	1	0	1	1	3	2	2	2	0	2	3	2	0	2	6	6	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.839A>G	p.Asn280Ser	p.N280S	ENST00000265986	6/25	169	159	10	80	80	0	strelka-varscan-mutect	IDE,missense_variant,p.Asn280Ser,ENST00000265986,NM_001322795.1,NM_001322796.1,NM_004969.3;IDE,downstream_gene_variant,,ENST00000436178,;IDE,3_prime_UTR_variant,,ENST00000478361,;	C	ENST00000265986	Transcript	missense_variant	896/5877	839/3060	280/1019	N/S	aAc/aGc		1		-1	IDE	HGNC	HGNC:5381	protein_coding	YES	CCDS7421.1	ENSP00000265986	P14735		UPI000013D6B6	NM_001322795.1,NM_001322796.1,NM_004969.3	deleterious(0.01)		6/25		hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF155,Pfam_domain:PF05193,Gene3D:3.30.830.10,Superfamily_domains:SSF63411																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	92510108	92510108	T	C	1	0	0	0	0	1	0	0	0	7393	1725	60	5		5	IDE	10	92510108	Missense_Mutation	SNP	T	C3N-00293_TP	3106773	92510108	41287314	174	13348											
CHRNA10	0	.	GRCh38	chr11	3666319	3666319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgtggctcgtggcaagggcCcgctggggggccagcccctc	3	6	17	15	3	0	0	0	0	0	0	3	0	0	0	4	6	1	3	4	6	1	0	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1141G>T	p.Gly381Cys	p.G381C	ENST00000250699	5/5	162	153	9	101	101	0	strelka-varscan-mutect	CHRNA10,missense_variant,p.Gly381Cys,ENST00000250699,NM_020402.3;CHRNA10,3_prime_UTR_variant,,ENST00000534359,NM_001303034.1,NM_001303035.1;ART1,downstream_gene_variant,,ENST00000250693,NM_004314.2;NUP98,downstream_gene_variant,,ENST00000533346,;Y_RNA,upstream_gene_variant,,ENST00000364409,;Y_RNA,upstream_gene_variant,,ENST00000363331,;CHRNA10,downstream_gene_variant,,ENST00000493827,;CHRNA10,3_prime_UTR_variant,,ENST00000526599,;	A	ENST00000250699	Transcript	missense_variant	1213/1945	1141/1353	381/450	G/C	Ggc/Tgc		1		-1	CHRNA10	HGNC	HGNC:13800	protein_coding	YES	CCDS7745.1	ENSP00000250699	Q9GZZ6		UPI0000038CF1	NM_020402.3	tolerated(0.09)		5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR18945:SF566,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	3666319	3666319	C	A	1	0	0	0	0	1	0	0	0	3142	623	22	2		2	CHRNA10	11	3666319	Missense_Mutation	SNP	C	C3N-00293_TP		3666319	131420303	175	13349											
C11orf40	0	.	GRCh38	chr11	4577773	4577773	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccatctgcaaaatggaCagctttggctctctttctct	7	15	7	12	0	3	0	0	0	3	0	6	1	4	1	1	2	2	3	1	2	2	2	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.48G>T	p.=	p.L16L	ENST00000307616	1/4	360	320	40	271	271	0	strelka-varscan-mutect	C11orf40,synonymous_variant,p.=,ENST00000307616,NM_144663.1;	A	ENST00000307616	Transcript	synonymous_variant	48/654	48/654	16/217	L	ctG/ctT		1		-1	C11orf40	HGNC	HGNC:23986	protein_coding	YES	CCDS31354.1	ENSP00000302918	Q8WZ69		UPI0000073B2B	NM_144663.1			1/4																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	45	4577773	4577773	C	A	1	0	0	0	0	0	0	0	1	1781	465	17	2		2	C11orf40	11	4577773	Silent	SNP	C	C3N-00293_TP	911454	4577773	130508849	176	13350											
OR56A3	0	.	GRCh38	chr11	5948217	5948217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgtcattcctgcagccCttaaccccatcatttacggg	9	11	6	15	1	2	0	2	0	0	0	3	0	3	0	5	1	4	1	5	1	2	4			C3N-00293_TP	C3N-00293_NB	C	C																c.871C>T	p.Leu291Phe	p.L291F	ENST00000329564	1/1	243	212	31	160	160	0	strelka-varscan-mutect	OR56A3,missense_variant,p.Leu291Phe,ENST00000329564,NM_001003443.2;AC025016.1,downstream_gene_variant,,ENST00000528915,;	T	ENST00000329564	Transcript	missense_variant	878/1022	871/948	291/315	L/F	Ctt/Ttt	COSM3450360	1		1	OR56A3	HGNC	HGNC:14786	protein_coding	YES	CCDS41614.1	ENSP00000331572	Q8NH54	A0A126GWL6	UPI0000041BF7	NM_001003443.2	deleterious(0.02)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF40,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237											1						MODERATE		SNV			1	1										PASS		.	.												T	3	4	45	5948217	5948217	C	T	1	0	0	0	0	1	0	0	0	11206	681	24	3		3	OR56A3	11	5948217	Missense_Mutation	SNP	C	C3N-00293_TP	1370444	5948217	129138405	177	13351											
OTOG	0	.	GRCh38	chr11	17558225	17558225	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgagtttgtgcacagctgGcaggagcaggcccctaacca	9	8	13	11	0	0	1	0	1	0	0	0	2	0	2	3	3	4	6	3	3	1	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.942G>A	p.Trp314Ter	p.W314*	ENST00000399391	8/55	266	252	14	214	214	0	strelka-varscan-mutect	OTOG,stop_gained,p.Trp302Ter,ENST00000399397,NM_001292063.1;OTOG,stop_gained,p.Trp314Ter,ENST00000399391,NM_001277269.1;OTOG,downstream_gene_variant,,ENST00000428619,;OTOG,non_coding_transcript_exon_variant,,ENST00000498332,;OTOG,intron_variant,,ENST00000485669,;	A	ENST00000399391	Transcript	stop_gained	942/8778	942/8778	314/2925	W/*	tgG/tgA		1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1			8/55		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	45	17558225	17558225	G	A	1	0	0	0	0	0	1	0	0	11370	1212	42	3		3	OTOG	11	17558225	Nonsense_Mutation	SNP	G	C3N-00293_TP	11610008	17558225	117528397	178	13352											
NAV2	0	.	GRCh38	chr11	20105716	20105716	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctcacagttcctcggAcgtcaccatcggtgggtggg	6	8	16	11	3	2	0	2	0	0	0	5	2	3	2	2	6	0	2	2	6	0	1	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.7007A>G	p.Asp2336Gly	p.D2336G	ENST00000396087	38/41	113	100	13	90	89	1	strelka-varscan-mutect	NAV2,missense_variant,p.Asp2337Gly,ENST00000527559,;NAV2,missense_variant,p.Asp2281Gly,ENST00000540292,;NAV2,missense_variant,p.Asp2280Gly,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.Asp2277Gly,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.Asp2213Gly,ENST00000360655,NM_001111018.1;NAV2,missense_variant,p.Asp2336Gly,ENST00000396087,NM_001244963.1;NAV2,missense_variant,p.Asp1341Gly,ENST00000533917,NM_001111019.2;NAV2,non_coding_transcript_exon_variant,,ENST00000533746,;NAV2,upstream_gene_variant,,ENST00000525025,;	G	ENST00000396087	Transcript	missense_variant	7106/7882	7007/7467	2336/2488	D/G	gAc/gGc		1		1	NAV2	HGNC	HGNC:15997	protein_coding	YES	CCDS58126.1	ENSP00000379396	Q8IVL1		UPI00001E0580	NM_001244963.1	deleterious(0.01)		38/41		hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	45	20105716	20105716	A	G	1	0	0	0	0	1	0	0	0	10193	275	10	5		5	NAV2	11	20105716	Missense_Mutation	SNP	A	C3N-00293_TP	2547491	20105716	114980906	179	13353											
NELL1	0	.	GRCh38	chr11	21573185	21573185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttttgcttttcctctacagGaaggagaggtagattgctgg	8	15	12	6	0	1	2	0	0	1	2	2	4	2	3	1	4	3	3	1	4	3	7	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.2242G>A	p.Glu748Lys	p.E748K	ENST00000298925	20/21	242	217	25	162	162	0	strelka-varscan-mutect	NELL1,missense_variant,p.Glu748Lys,ENST00000298925,NM_001288713.1;NELL1,missense_variant,p.Glu663Lys,ENST00000325319,NM_001288714.1;NELL1,missense_variant,p.Glu720Lys,ENST00000357134,NM_006157.4;NELL1,missense_variant,p.Glu673Lys,ENST00000532434,NM_201551.2;NELL1,splice_region_variant,,ENST00000529218,;	A	ENST00000298925	Transcript	missense_variant,splice_region_variant	2395/3329	2242/2517	748/838	E/K	Gaa/Aaa		1		1	NELL1	HGNC	HGNC:7750	protein_coding	YES	CCDS73267.1	ENSP00000298925		J3KNC5	UPI0000228C6F	NM_001288713.1	tolerated(0.16)		20/21		Pfam_domain:PF00093,PROSITE_patterns:PS01208,PROSITE_profiles:PS50184,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	45	21573185	21573185	G	A	1	0	0	0	0	1	0	0	0	10364	1188	41	3		3	NELL1	11	21573185	Missense_Mutation	SNP	G	C3N-00293_TP	1467469	21573185	113513437	180	13354											
KIF18A	0	.	GRCh38	chr11	28091440	28091440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taagtccatgaacgaccaccCctttttgggtatcttcccgg	8	12	8	13	2	1	1	0	1	1	0	3	2	3	1	5	2	1	1	5	2	3	5	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.557G>T	p.Gly186Val	p.G186V	ENST00000263181	4/17	287	270	17	175	175	0	strelka-varscan-mutect	KIF18A,missense_variant,p.Gly186Val,ENST00000263181,NM_031217.3;KIF18A,non_coding_transcript_exon_variant,,ENST00000533466,;KIF18A,upstream_gene_variant,,ENST00000531047,;	A	ENST00000263181	Transcript	missense_variant	848/3568	557/2697	186/898	G/V	gGg/gTg		1		-1	KIF18A	HGNC	HGNC:29441	protein_coding	YES	CCDS7867.1	ENSP00000263181	Q8NI77		UPI0000037CCC	NM_031217.3	deleterious(0)		4/17		PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF399,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	28091440	28091440	C	A	1	0	0	0	0	1	0	0	0	8144	623	22	2		2	KIF18A	11	28091440	Missense_Mutation	SNP	C	C3N-00293_TP	6518255	28091440	106995182	181	13355											
DCDC1	0	.	GRCh38	chr11	30931809	30931809	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagatatctggaccaaggatAgtaacggatctgtttttatt	12	14	10	5	1	2	1	0	0	2	1	2	5	2	4	1	3	1	2	1	3	5	7	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.180T>A	p.=	p.T60T	ENST00000406071	3/20	210	196	14	145	145	0	strelka-varscan-mutect	DCDC1,synonymous_variant,p.=,ENST00000597505,;DCDC1,synonymous_variant,p.=,ENST00000406071,NM_020869.3;DCDC1,non_coding_transcript_exon_variant,,ENST00000437348,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;	T	ENST00000406071	Transcript	synonymous_variant	496/4758	180/2673	60/890	T	acT/acA		1		-1	DCDC1	HGNC	HGNC:20625	protein_coding	YES	CCDS73270.1	ENSP00000385936		B6ZDN3	UPI0001FB41A5	NM_020869.3			3/20		PROSITE_profiles:PS50309,hmmpanther:PTHR14958:SF27,hmmpanther:PTHR14958,Gene3D:1mfwA00,SMART_domains:SM00537,Superfamily_domains:SSF89837																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	45	30931809	30931809	A	T	1	0	0	0	0	0	0	0	1	4086	407	15	4		4	DCDC1	11	30931809	Silent	SNP	A	C3N-00293_TP	2840369	30931809	104154813	182	13356											
PAX6	0	.	GRCh38	chr11	31790013	31790013	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactgacacaccaggggaaAtgagtcctagaagtggatga	15	6	13	7	0	0	4	0	3	0	1	1	7	1	6	2	3	1	0	2	3	4	1	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.1232T>C	p.Ile411Thr	p.I411T	ENST00000419022	14/14	254	222	32	132	132	0	strelka-varscan-mutect	PAX6,missense_variant,p.Ile411Thr,ENST00000419022,NM_001310158.1,NM_001310161.1,NM_001258462.1;PAX6,missense_variant,p.Ile411Thr,ENST00000606377,NM_001310161.1,NM_001258463.1;PAX6,missense_variant,p.Ile411Thr,ENST00000379129,;PAX6,missense_variant,p.Ile411Thr,ENST00000379107,;PAX6,missense_variant,p.Ile397Thr,ENST00000379132,NM_001127612.1;PAX6,missense_variant,p.Ile397Thr,ENST00000379123,NM_001258464.1,NM_000280.4;PAX6,missense_variant,p.Ile397Thr,ENST00000379109,;PAX6,missense_variant,p.Ile411Thr,ENST00000379115,NM_001604.5;PAX6,missense_variant,p.Ile397Thr,ENST00000241001,;PAX6,missense_variant,p.Ile397Thr,ENST00000379111,NM_001258465.1;PAX6,downstream_gene_variant,,ENST00000455099,;PAX6,downstream_gene_variant,,ENST00000471303,;PAX6,downstream_gene_variant,,ENST00000531910,;PAX6,downstream_gene_variant,,ENST00000530373,;PAX6,non_coding_transcript_exon_variant,,ENST00000533333,;PAX6,non_coding_transcript_exon_variant,,ENST00000470027,;PAX6,non_coding_transcript_exon_variant,,ENST00000494377,;PAX6,non_coding_transcript_exon_variant,,ENST00000464174,;PAX6,non_coding_transcript_exon_variant,,ENST00000474783,;PAX6,downstream_gene_variant,,ENST00000532916,;	G	ENST00000419022	Transcript	missense_variant	1701/6922	1232/1311	411/436	I/T	aTt/aCt		1		-1	PAX6	HGNC	HGNC:8620	protein_coding	YES	CCDS31452.1	ENSP00000404100	P26367	F1T0F8	UPI000002B0A0	NM_001310158.1,NM_001310161.1,NM_001258462.1	deleterious(0)		14/14		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF294																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	45	31790013	31790013	A	G	1	0	0	0	0	1	0	0	0	11568	101	4	5		5	PAX6	11	31790013	Missense_Mutation	SNP	A	C3N-00293_TP	858204	31790013	103296609	183	13357											
OR4A15	0	.	GRCh38	chr11	55368097	55368097	+	Missense_Mutation	SNP	C	C	G																															tgacgataatgggcaacctgCttatcatagtgaccatcatg																								novel		C3N-00293_TP	C3N-00293_NB	C	C																c.214C>G	p.Leu72Val	p.L72V	ENST00000314706	1/1	154	142	12	88	88	0	varscan-mutect	OR4A15,missense_variant,p.Leu72Val,ENST00000314706,NM_001005275.1;	G	ENST00000314706	Transcript	missense_variant	214/1035	214/1035	72/344	L/V	Ctt/Gtt		1		1	OR4A15	HGNC	HGNC:15152	protein_coding	YES	CCDS31500.1	ENSP00000325065	Q8NGL6		UPI000004618F	NM_001005275.1	deleterious_low_confidence(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs1460444475	.												G	3	3	45	55368097	55368097	C	G	1	0	0	0	0	1	0	0	0	11117	797	28	4		4	OR4A15	11	55368097	Missense_Mutation	SNP	C	C3N-00293_TP	23578084	55368097	79718525	184	13358	308	2									
OR4A15	0	.	GRCh38	chr11	55368098	55368098	+	Missense_Mutation	SNP	T	T	C																															gacgataatgggcaacctgcTtatcatagtgaccatcatgg																								novel		C3N-00293_TP	C3N-00293_NB	T	T																c.215T>C	p.Leu72Pro	p.L72P	ENST00000314706	1/1	151	139	12	93	93	0	strelka-varscan-mutect	OR4A15,missense_variant,p.Leu72Pro,ENST00000314706,NM_001005275.1;	C	ENST00000314706	Transcript	missense_variant	215/1035	215/1035	72/344	L/P	cTt/cCt		1		1	OR4A15	HGNC	HGNC:15152	protein_coding	YES	CCDS31500.1	ENSP00000325065	Q8NGL6		UPI000004618F	NM_001005275.1	deleterious_low_confidence(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	45	55368098	55368098	T	C	1	0	0	0	0	1	0	0	0	11117	1609	56	5		5	OR4A15	11	55368098	Missense_Mutation	SNP	T	C3N-00293_TP	1	55368098	79718524	185	13359	308	2									
OR4C11	0	.	GRCh38	chr11	55603602	55603602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaagtggtcggggggcGtgtatatatgaatatacatg	11	10	17	3	2	0	1	0	1	0	0	1	2	0	2	0	6	1	1	0	6	7	5	rs140582621		C3N-00293_TP	C3N-00293_NB	G	G																c.772C>T	p.Arg258Cys	p.R258C	ENST00000302231	1/1	209	184	25	153	153	0	strelka-varscan-mutect	OR4C11,missense_variant,p.Arg258Cys,ENST00000302231,NM_001004700.2;	A	ENST00000302231	Transcript	missense_variant	797/1045	772/933	258/310	R/C	Cgc/Tgc	rs140582621,COSM688952	1		-1	OR4C11	HGNC	HGNC:15167	protein_coding	YES	CCDS31503.1	ENSP00000306651	Q6IEV9	A0A126GVN6	UPI000013E7AD	NM_001004700.2	tolerated(0.06)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF447,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs140582621	.												A	3	1	45	55603602	55603602	G	A	1	0	0	0	0	1	0	0	0	11122	1145	40	1		1	OR4C11	11	55603602	Missense_Mutation	SNP	G	C3N-00293_TP	235504	55603602	79483020	186	13360											
OR5D14	0	.	GRCh38	chr11	55795949	55795949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggccatctgcaatcctCtgctttatacagtggccatg	7	14	9	11	0	2	0	0	0	2	0	3	0	3	0	3	2	3	2	3	2	3	4			C3N-00293_TP	C3N-00293_NB	C	C																c.394C>A	p.Leu132Met	p.L132M	ENST00000335605	1/1	194	179	15	131	131	0	strelka-varscan-mutect	OR5D14,missense_variant,p.Leu132Met,ENST00000335605,NM_001004735.1;	A	ENST00000335605	Transcript	missense_variant	394/945	394/945	132/314	L/M	Ctg/Atg	COSM4834518	1		1	OR5D14	HGNC	HGNC:15281	protein_coding	YES	CCDS31508.1	ENSP00000334456	Q8NGL3		UPI000004B1F6	NM_001004735.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF67,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		rs949576164	.												A	3	1	45	55795949	55795949	C	A	1	0	0	0	0	1	0	0	0	11225	912	32	2		2	OR5D14	11	55795949	Missense_Mutation	SNP	C	C3N-00293_TP	192347	55795949	79290673	187	13361											
OR8I2	0	.	GRCh38	chr11	56093963	56093963	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacagtcacttatatcaTcatcatctcagccatcctga	12	12	3	14	0	6	1	6	1	1	0	8	1	7	1	2	0	1	0	2	0	2	2	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.656T>G	p.Ile219Ser	p.I219S	ENST00000302124	1/1	201	168	33	127	126	1	strelka-varscan-mutect	OR8I2,missense_variant,p.Ile219Ser,ENST00000302124,NM_001003750.1;OR8I4P,downstream_gene_variant,,ENST00000526965,;	G	ENST00000302124	Transcript	missense_variant	656/933	656/933	219/310	I/S	aTc/aGc		1		1	OR8I2	HGNC	HGNC:15310	protein_coding	YES	CCDS31517.1	ENSP00000303864	Q8N0Y5		UPI0000041D16	NM_001003750.1	tolerated(0.86)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	45	56093963	56093963	T	G	1	0	0	0	0	1	0	0	0	11308	1435	50	5		5	OR8I2	11	56093963	Missense_Mutation	SNP	T	C3N-00293_TP	298014	56093963	78992659	188	13362											
OR8J3	0	.	GRCh38	chr11	56137429	56137429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcccagttgggtggcaCattcatagaatgaggtagtt	10	11	11	9	0	1	2	1	1	0	1	2	2	2	2	2	3	0	4	2	3	3	5	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.290G>A	p.Cys97Tyr	p.C97Y	ENST00000301529	1/1	293	273	20	189	189	0	varscan-mutect	OR8J3,missense_variant,p.Cys97Tyr,ENST00000301529,NM_001004064.1;OR5BN1P,upstream_gene_variant,,ENST00000532955,;	T	ENST00000301529	Transcript	missense_variant	290/948	290/948	97/315	C/Y	tGt/tAt		1		-1	OR8J3	HGNC	HGNC:15312	protein_coding	YES	CCDS31520.1	ENSP00000301529	Q8NGG0	A0A126GVE3	UPI0000061E99	NM_001004064.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF249,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	45	56137429	56137429	C	T	1	0	0	0	0	1	0	0	0	11310	478	17	3		3	OR8J3	11	56137429	Missense_Mutation	SNP	C	C3N-00293_TP	43466	56137429	78949193	189	13363											
OR5T1	0	.	GRCh38	chr11	56276035	56276035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttggctgcaatggcttatGatcgctatgtagccatctac	8	14	9	10	1	2	1	0	1	2	0	3	1	2	1	1	2	3	5	1	2	5	5	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.397G>A	p.Asp133Asn	p.D133N	ENST00000313033	1/1	318	295	23	172	172	0	varscan-mutect	OR5T1,missense_variant,p.Asp133Asn,ENST00000313033,NM_001004745.1;	A	ENST00000313033	Transcript	missense_variant	397/981	397/981	133/326	D/N	Gat/Aat		1		1	OR5T1	HGNC	HGNC:14821	protein_coding	YES	CCDS31525.1	ENSP00000323612	Q8NG75	A0A126GVL6	UPI000004B22E	NM_001004745.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF33,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	45	56276035	56276035	G	A	1	0	0	0	0	1	0	0	0	11249	1290	45	3		3	OR5T1	11	56276035	Missense_Mutation	SNP	G	C3N-00293_TP	138606	56276035	78810587	190	13364											
CTNND1	0	.	GRCh38	chr11	57805935	57805935	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttatcatatcaagttcaccgGgagatcccacaggcagagcg	12	8	10	11	2	3	2	3	0	0	2	4	3	4	2	2	2	1	2	2	2	3	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1776G>T	p.=	p.R592R	ENST00000399050	10/21	186	175	11	151	151	0	strelka-varscan-mutect	CTNND1,synonymous_variant,p.=,ENST00000524630,;CTNND1,synonymous_variant,p.=,ENST00000399050,NM_001085458.1;CTNND1,synonymous_variant,p.=,ENST00000361332,NM_001085459.1;CTNND1,synonymous_variant,p.=,ENST00000361391,NM_001331.2;CTNND1,synonymous_variant,p.=,ENST00000361796,NM_001206885.1;CTNND1,synonymous_variant,p.=,ENST00000358694,NM_001085460.1,NM_001085461.1;CTNND1,synonymous_variant,p.=,ENST00000529526,NM_001206891.1;CTNND1,synonymous_variant,p.=,ENST00000532649,NM_001206889.1;CTNND1,synonymous_variant,p.=,ENST00000534579,;CTNND1,synonymous_variant,p.=,ENST00000428599,NM_001085462.1;CTNND1,synonymous_variant,p.=,ENST00000532844,NM_001206883.1;CTNND1,synonymous_variant,p.=,ENST00000526357,NM_001206886.1;CTNND1,synonymous_variant,p.=,ENST00000529873,NM_001206887.1;CTNND1,synonymous_variant,p.=,ENST00000530748,NM_001206884.1;CTNND1,synonymous_variant,p.=,ENST00000528621,NM_001206888.1;CTNND1,synonymous_variant,p.=,ENST00000415361,NM_001085463.1;CTNND1,synonymous_variant,p.=,ENST00000530094,NM_001085464.1;CTNND1,synonymous_variant,p.=,ENST00000426142,NM_001085467.1;CTNND1,synonymous_variant,p.=,ENST00000532787,NM_001085465.1;CTNND1,synonymous_variant,p.=,ENST00000532463,NM_001206890.1;CTNND1,synonymous_variant,p.=,ENST00000528232,NM_001085466.1;CTNND1,synonymous_variant,p.=,ENST00000529986,NM_001085468.1;CTNND1,synonymous_variant,p.=,ENST00000532245,NM_001085469.1;CTNND1,synonymous_variant,p.=,ENST00000527467,;CTNND1,synonymous_variant,p.=,ENST00000531014,;CTNND1,synonymous_variant,p.=,ENST00000533667,;CTNND1,synonymous_variant,p.=,ENST00000525902,;CTNND1,synonymous_variant,p.=,ENST00000526772,;CTNND1,synonymous_variant,p.=,ENST00000529919,;CTNND1,synonymous_variant,p.=,ENST00000526938,;CTNND1,downstream_gene_variant,,ENST00000534647,;CTNND1,upstream_gene_variant,,ENST00000531007,;CTNND1,downstream_gene_variant,,ENST00000533189,;CTNND1,upstream_gene_variant,,ENST00000530720,;CTNND1,downstream_gene_variant,,ENST00000527599,;	T	ENST00000399050	Transcript	synonymous_variant	2312/6313	1776/2907	592/968	R	cgG/cgT		1		1	CTNND1	HGNC	HGNC:2515	protein_coding	YES	CCDS44604.1	ENSP00000382004	O60716		UPI000012860B	NM_001085458.1			10/21		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF6,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	45	57805935	57805935	G	T	1	0	0	0	0	0	0	0	1	3828	1219	43	2		2	CTNND1	11	57805935	Silent	SNP	G	C3N-00293_TP	1529900	57805935	77280687	191	13365											
ACY3	0	.	GRCh38	chr11	67646833	67646833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgctggtgaaggtgcGgttgaggtcatggtccacgt	7	10	17	7	2	1	2	1	2	0	0	2	3	2	2	1	5	3	3	1	5	2	1	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.211C>A	p.Arg71Ser	p.R71S	ENST00000255082	3/8	331	283	48	247	247	0	strelka-varscan-mutect	ACY3,missense_variant,p.Arg71Ser,ENST00000255082,NM_080658.1;ACY3,5_prime_UTR_variant,,ENST00000529256,;AP003385.2,downstream_gene_variant,,ENST00000426387,;	T	ENST00000255082	Transcript	missense_variant	382/1300	211/960	71/319	R/S	Cgc/Agc		1		-1	ACY3	HGNC	HGNC:24104	protein_coding	YES	CCDS8175.1	ENSP00000255082	Q96HD9	A0A024R5L2	UPI0000073C5C	NM_080658.1	deleterious(0)		3/8		HAMAP:MF_00704,hmmpanther:PTHR15162:SF5,hmmpanther:PTHR15162,Pfam_domain:PF04952,PIRSF_domain:PIRSF018001,Gene3D:3.40.630.10,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		rs928996990	.												T	3	4	45	67646833	67646833	G	T	1	0	0	0	0	1	0	0	0	271	1116	39	1		1	ACY3	11	67646833	Missense_Mutation	SNP	G	C3N-00293_TP	9840898	67646833	67439789	192	13366											
LRP5	0	.	GRCh38	chr11	68448986	68448986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtacctgtcggcggaggaCagctgcccgccctcgcccgc	5	5	13	18	5	0	0	0	0	0	0	2	2	0	2	4	3	3	2	4	3	1	1	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.4764C>T	p.=	p.D1588D	ENST00000294304	23/23	159	123	36	99	99	0	strelka-varscan-mutect	LRP5,synonymous_variant,p.=,ENST00000294304,NM_001291902.1,NM_002335.3;LRP5,synonymous_variant,p.=,ENST00000529702,;LRP5,non_coding_transcript_exon_variant,,ENST00000529481,;LRP5,3_prime_UTR_variant,,ENST00000529993,;	T	ENST00000294304	Transcript	synonymous_variant	4870/5159	4764/4848	1588/1615	D	gaC/gaT		1		1	LRP5	HGNC	HGNC:6697	protein_coding	YES	CCDS8181.1	ENSP00000294304	O75197		UPI0000073246	NM_001291902.1,NM_002335.3			23/23		PIRSF_domain:PIRSF036314																	LOW	1	SNV	1			1										PASS		rs1371150451	.												T	2	4	45	68448986	68448986	C	T	1	0	0	0	0	0	0	0	1	8855	477	17	3		3	LRP5	11	68448986	Silent	SNP	C	C3N-00293_TP	802153	68448986	66637636	193	13367											
TRIM64B	0	.	GRCh38	chr11	89871017	89871017	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccactccctggggatccgtGggagcactgagatggtcatc	7	9	13	12	1	1	1	1	1	0	1	5	4	4	3	3	4	1	1	3	4	0	0	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.954C>A	p.=	p.P318P	ENST00000329862	6/6	615	577	38	414	414	0	varscan-mutect	TRIM64B,synonymous_variant,p.=,ENST00000329862,NM_001164397.1;	T	ENST00000329862	Transcript	synonymous_variant	954/2689	954/1350	318/449	P	ccC/ccA		1		-1	TRIM64B	HGNC	HGNC:37147	protein_coding	YES	CCDS53693.1	ENSP00000332969	A6NI03		UPI0001662600	NM_001164397.1			6/6		Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF354,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	45	89871017	89871017	G	T	1	0	0	0	0	0	0	0	1	17032	1335	47	2		2	TRIM64B	11	89871017	Silent	SNP	G	C3N-00293_TP	21422031	89871017	45215605	194	13368											
FAT3	0	.	GRCh38	chr11	92890526	92890526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctctgattggatgccagggGcccgcctgtcggacatagag	7	8	14	12	2	1	2	0	1	1	1	2	4	1	4	4	4	1	0	4	4	1	2	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.12733G>A	p.Ala4245Thr	p.A4245T	ENST00000525166	27/27	88	83	5	69	69	0	strelka-mutect	FAT3,missense_variant,p.Ala4363Thr,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Ala4245Thr,ENST00000525166,;FAT3,missense_variant,p.Ala698Thr,ENST00000533797,;FAT3,non_coding_transcript_exon_variant,,ENST00000489716,;FAT3,non_coding_transcript_exon_variant,,ENST00000469900,;	A	ENST00000525166	Transcript	missense_variant	12755/18699	12733/13320	4245/4439	A/T	Gcc/Acc		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		tolerated(0.34)		27/27		hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026																	MODERATE	1	SNV	5			1										PASS		rs1292661793	.												A	3	1	45	92890526	92890526	G	A	1	0	0	0	0	1	0	0	0	5551	1203	42	3		3	FAT3	11	92890526	Missense_Mutation	SNP	G	C3N-00293_TP	3019509	92890526	42196096	195	13369											
JRKL	0	.	GRCh38	chr11	96390889	96390889	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtatgaggaattggaCagggcaatgctggaatggtt	11	11	14	5	0	0	1	0	1	0	0	1	4	1	4	1	5	1	4	1	5	4	3	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.240C>T	p.=	p.D80D	ENST00000332349	2/2	180	170	10	118	118	0	strelka-varscan-mutect	JRKL,synonymous_variant,p.=,ENST00000332349,NM_001261833.1,NM_003772.3;CCDC82,upstream_gene_variant,,ENST00000278520,NM_001318736.1,NM_024725.3;CCDC82,upstream_gene_variant,,ENST00000538597,;CCDC82,upstream_gene_variant,,ENST00000530203,;JRKL,intron_variant,,ENST00000546177,;CCDC82,upstream_gene_variant,,ENST00000525786,;CCDC82,upstream_gene_variant,,ENST00000524836,;	T	ENST00000332349	Transcript	synonymous_variant	487/2855	240/1575	80/524	D	gaC/gaT		1		1	JRKL	HGNC	HGNC:6200	protein_coding	YES	CCDS8308.1	ENSP00000333350	Q9Y4A0		UPI0000167818	NM_001261833.1,NM_003772.3			2/2		Gene3D:1.10.10.60,Pfam_domain:PF03221,PROSITE_profiles:PS51253,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF174,SMART_domains:SM00674,Superfamily_domains:SSF46689																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	45	96390889	96390889	C	T	1	0	0	0	0	0	0	0	1	7877	477	17	3		3	JRKL	11	96390889	Silent	SNP	C	C3N-00293_TP	3500363	96390889	38695733	196	13370											
CASP1	0	.	GRCh38	chr11	105029741	105029741	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttggtattcaacatgttAaagattgcattgagttgtag	11	17	9	4	0	2	2	1	1	1	1	2	2	2	2	0	1	2	5	0	1	5	9	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.786T>G	p.Phe262Leu	p.F262L	ENST00000533400	6/9	458	418	40	317	317	0	strelka-varscan-mutect	CASP1,missense_variant,p.Phe262Leu,ENST00000533400,NM_001257118.2;CASP1,missense_variant,p.Phe225Leu,ENST00000527979,;CASP1,missense_variant,p.Phe262Leu,ENST00000436863,NM_033292.3;CASP1,missense_variant,p.Phe223Leu,ENST00000528974,;CASP1,missense_variant,p.Phe241Leu,ENST00000525825,NM_001223.4,NM_001257119.2;CASP1,missense_variant,p.Phe169Leu,ENST00000526568,NM_033293.3;CASP1,missense_variant,p.Phe169Leu,ENST00000446369,NM_033294.3;CASP1,missense_variant,p.Phe169Leu,ENST00000534497,;CASP1,missense_variant,p.Phe111Leu,ENST00000532439,;CASP1,intron_variant,,ENST00000353247,NM_033295.3;CASP1,intron_variant,,ENST00000531166,;CASP1,3_prime_UTR_variant,,ENST00000529871,;CASP1,downstream_gene_variant,,ENST00000526511,;CASP1,downstream_gene_variant,,ENST00000528424,;CASP1,downstream_gene_variant,,ENST00000532520,;CASP1,upstream_gene_variant,,ENST00000527625,;	C	ENST00000533400	Transcript	missense_variant	822/2001	786/1215	262/404	F/L	ttT/ttG		1		-1	CASP1	HGNC	HGNC:1499	protein_coding	YES	CCDS8330.1	ENSP00000433138	P29466		UPI000003AEF8	NM_001257118.2	deleterious(0)		6/9		Gene3D:3.40.50.1460,Pfam_domain:PF00656,PIRSF_domain:PIRSF038001,PROSITE_profiles:PS50208,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF34,SMART_domains:SM00115,Superfamily_domains:SSF52129																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	105029741	105029741	A	C	1	0	0	0	0	1	0	0	0	2368	359	13	5		5	CASP1	11	105029741	Missense_Mutation	SNP	A	C3N-00293_TP	8638852	105029741	30056881	197	13371											
IL18	0	.	GRCh38	chr11	112148626	112148626	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaggaaataattttgttctCacaggagagagttgaaattt	16	13	9	3	0	1	2	1	1	1	1	2	5	1	4	0	2	0	2	0	2	4	6	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.337G>C	p.Glu113Gln	p.E113Q	ENST00000280357	5/6	225	211	14	137	137	0	strelka-varscan-mutect	IL18,missense_variant,p.Glu113Gln,ENST00000280357,NM_001562.3;IL18,missense_variant,p.Glu109Gln,ENST00000524595,NM_001243211.1;IL18,missense_variant,p.Glu113Gln,ENST00000528832,;IL18,non_coding_transcript_exon_variant,,ENST00000533858,;IL18,non_coding_transcript_exon_variant,,ENST00000525547,;AP002884.2,intron_variant,,ENST00000525987,;AP002884.2,intron_variant,,ENST00000532699,;AP002884.2,intron_variant,,ENST00000531744,;IL18,downstream_gene_variant,,ENST00000534225,;	G	ENST00000280357	Transcript	missense_variant	557/1147	337/582	113/193	E/Q	Gag/Cag		1		-1	IL18	HGNC	HGNC:5986	protein_coding	YES	CCDS44731.1	ENSP00000280357	Q14116		UPI000012D487	NM_001562.3	tolerated(0.3)		5/6		hmmpanther:PTHR11326,Pfam_domain:PF00340,Gene3D:2.80.10.50,PIRSF_domain:PIRSF015162,Superfamily_domains:SSF50353																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	45	112148626	112148626	C	G	1	0	0	0	0	1	0	0	0	7553	835	29	4		4	IL18	11	112148626	Missense_Mutation	SNP	C	C3N-00293_TP	7118885	112148626	22937996	198	13372											
HYOU1	0	.	GRCh38	chr11	119055002	119055002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcaaaatcttcagctaGagaacgagaataattgagaa	18	8	8	7	1	2	3	1	1	1	3	2	6	2	3	1	0	3	2	1	0	7	4	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.478C>A	p.Leu160Ile	p.L160I	ENST00000617285	6/26	226	212	14	164	164	0	strelka-varscan-mutect	HYOU1,missense_variant,p.Leu160Ile,ENST00000617285,NM_001130991.2,NM_006389.4;HYOU1,missense_variant,p.Leu160Ile,ENST00000612687,;HYOU1,missense_variant,p.Leu160Ile,ENST00000621959,;HYOU1,missense_variant,p.Leu160Ile,ENST00000614711,;HYOU1,missense_variant,p.Leu160Ile,ENST00000532519,;HYOU1,missense_variant,p.Leu160Ile,ENST00000530473,;HYOU1,missense_variant,p.Leu160Ile,ENST00000526656,;HYOU1,missense_variant,p.Leu160Ile,ENST00000534233,;HYOU1,intron_variant,,ENST00000614668,;HYOU1,downstream_gene_variant,,ENST00000527038,;HYOU1,downstream_gene_variant,,ENST00000532421,;HYOU1,downstream_gene_variant,,ENST00000530467,;HYOU1,downstream_gene_variant,,ENST00000610597,;HYOU1,3_prime_UTR_variant,,ENST00000543287,;HYOU1,3_prime_UTR_variant,,ENST00000531968,;HYOU1,non_coding_transcript_exon_variant,,ENST00000531694,;HYOU1,downstream_gene_variant,,ENST00000533381,;HYOU1,downstream_gene_variant,,ENST00000526354,;HYOU1,downstream_gene_variant,,ENST00000529174,;HYOU1,downstream_gene_variant,,ENST00000622474,;	T	ENST00000617285	Transcript	missense_variant	603/4529	478/3000	160/999	L/I	Cta/Ata		1		-1	HYOU1	HGNC	HGNC:16931	protein_coding	YES	CCDS8408.1	ENSP00000480150	Q9Y4L1		UPI0000130F72	NM_001130991.2,NM_006389.4	tolerated(0.2)		6/26		hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF90,Pfam_domain:PF00012,Gene3D:3.30.420.40,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	119055002	119055002	G	T	1	0	0	0	0	1	0	0	0	7367	933	33	2		2	HYOU1	11	119055002	Missense_Mutation	SNP	G	C3N-00293_TP	6906376	119055002	16031620	199	13373											
HMBS	0	.	GRCh38	chr11	119092454	119092454	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggacatcttggatctGgtgggtgtgctgcacgatcc	7	10	14	10	1	2	0	0	0	2	0	3	4	3	2	2	4	2	2	2	4	0	1	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.702G>T	p.=	p.L234L	ENST00000278715	11/14	461	414	47	378	378	0	strelka-varscan-mutect	HMBS,synonymous_variant,p.=,ENST00000537841,;HMBS,synonymous_variant,p.=,ENST00000442944,;HMBS,synonymous_variant,p.=,ENST00000278715,NM_000190.3;HMBS,synonymous_variant,p.=,ENST00000392841,NM_001024382.1;HMBS,synonymous_variant,p.=,ENST00000543090,;HMBS,intron_variant,,ENST00000542729,NM_001258209.1;HMBS,intron_variant,,ENST00000544387,NM_001258208.1;DPAGT1,downstream_gene_variant,,ENST00000409993,;DPAGT1,downstream_gene_variant,,ENST00000354202,NM_001382.3;H2AFX,downstream_gene_variant,,ENST00000530167,NM_002105.2;HMBS,downstream_gene_variant,,ENST00000539986,;HMBS,downstream_gene_variant,,ENST00000535253,;HMBS,downstream_gene_variant,,ENST00000546302,;DPAGT1,downstream_gene_variant,,ENST00000636404,;HMBS,downstream_gene_variant,,ENST00000536813,;HMBS,downstream_gene_variant,,ENST00000534956,;HMBS,downstream_gene_variant,,ENST00000536185,;HMBS,3_prime_UTR_variant,,ENST00000545621,;HMBS,non_coding_transcript_exon_variant,,ENST00000546226,;HMBS,non_coding_transcript_exon_variant,,ENST00000543543,;HMBS,non_coding_transcript_exon_variant,,ENST00000542044,;HMBS,non_coding_transcript_exon_variant,,ENST00000544182,;DPAGT1,downstream_gene_variant,,ENST00000481084,;DPAGT1,downstream_gene_variant,,ENST00000461999,;DPAGT1,downstream_gene_variant,,ENST00000392834,;DPAGT1,downstream_gene_variant,,ENST00000414373,;H2AFX,downstream_gene_variant,,ENST00000375167,;DPAGT1,downstream_gene_variant,,ENST00000525456,;DPAGT1,downstream_gene_variant,,ENST00000442480,;HMBS,downstream_gene_variant,,ENST00000542822,;HMBS,downstream_gene_variant,,ENST00000542345,;HMBS,upstream_gene_variant,,ENST00000539045,;HMBS,downstream_gene_variant,,ENST00000535793,;HMBS,downstream_gene_variant,,ENST00000544360,;HMBS,downstream_gene_variant,,ENST00000545901,;HMBS,downstream_gene_variant,,ENST00000543821,;DPAGT1,downstream_gene_variant,,ENST00000524658,;	T	ENST00000278715	Transcript	synonymous_variant	853/1501	702/1086	234/361	L	ctG/ctT		1		1	HMBS	HGNC	HGNC:4982	protein_coding	YES	CCDS8409.1	ENSP00000278715	P08397		UPI000012C47A	NM_000190.3			11/14		HAMAP:MF_00260,hmmpanther:PTHR11557,hmmpanther:PTHR11557:SF0,PIRSF_domain:PIRSF001438,TIGRFAM_domain:TIGR00212,Superfamily_domains:SSF53850																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	45	119092454	119092454	G	T	1	0	0	0	0	0	0	0	1	7109	1335	47	2		2	HMBS	11	119092454	Silent	SNP	G	C3N-00293_TP	37452	119092454	15994168	200	13374											
OR10G7	0	.	GRCh38	chr11	124038266	124038266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaagaagcaaaggaccaCgatacagtgggaggcacagg	16	2	14	9	1	0	1	0	0	0	1	0	4	0	3	2	4	2	2	2	4	4	1	rs757153234		C3N-00293_TP	C3N-00293_NB	C	C																c.736G>A	p.Val246Met	p.V246M	ENST00000330487	1/1	230	218	12	147	147	0	varscan-mutect	OR10G7,missense_variant,p.Val246Met,ENST00000330487,NM_001004463.1;	T	ENST00000330487	Transcript	missense_variant	745/945	736/936	246/311	V/M	Gtg/Atg	rs757153234,COSM3444675	1		-1	OR10G7	HGNC	HGNC:14842	protein_coding	YES	CCDS31705.1	ENSP00000329689	Q8NGN6	A0A126GWF3	UPI0000040A84	NM_001004463.1	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV			0,1	1										PASS		rs757153234	.												T	3	4	45	124038266	124038266	C	T	1	0	0	0	0	1	0	0	0	10979	536	19	1		1	OR10G7	11	124038266	Missense_Mutation	SNP	C	C3N-00293_TP	4945812	124038266	11048356	201	13375											
FLI1	0	.	GRCh38	chr11	128772820	128772820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcatgtgaggcaatggCtggagtgggccataaaggag	12	6	18	5	0	0	1	0	1	0	0	0	4	0	4	1	6	1	3	1	6	3	1	rs753153302		C3N-00293_TP	C3N-00293_NB	C	C																c.424C>A	p.Leu142Met	p.L142M	ENST00000527786	4/9	265	220	45	220	220	0	strelka-mutect	FLI1,missense_variant,p.Leu76Met,ENST00000281428,NM_001271010.1;FLI1,missense_variant,p.Leu142Met,ENST00000527786,NM_002017.4;FLI1,missense_variant,p.Leu109Met,ENST00000534087,NM_001167681.2;FLI1,intron_variant,,ENST00000344954,NM_001271012.1;FLI1,downstream_gene_variant,,ENST00000527767,;FLI1,3_prime_UTR_variant,,ENST00000429175,;FLI1,intron_variant,,ENST00000608303,;FLI1,downstream_gene_variant,,ENST00000608055,;	A	ENST00000527786	Transcript	missense_variant	913/4127	424/1359	142/452	L/M	Ctg/Atg	rs753153302	1		1	FLI1	HGNC	HGNC:3749	protein_coding	YES	CCDS44768.1	ENSP00000433488	Q01543	A0A024R3M5	UPI000012A972	NM_002017.4	deleterious(0.01)		4/9		Gene3D:1.10.150.50,Pfam_domain:PF02198,PROSITE_profiles:PS51433,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF161,SMART_domains:SM00251,Superfamily_domains:SSF47769																	MODERATE	1	SNV	1			1										PASS		rs753153302	.												A	3	1	45	128772820	128772820	C	A	1	0	0	0	0	1	0	0	0	5786	796	28	2		2	FLI1	11	128772820	Missense_Mutation	SNP	C	C3N-00293_TP	4734554	128772820	6313802	202	13376											
NCAPD3	0	.	GRCh38	chr11	134204044	134204044	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttatgcagagctatctcctAccttggaacttcgggagtat	9	14	9	9	1	1	1	0	0	1	1	3	3	1	3	2	2	4	3	2	2	5	7	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.1215+2T>C		p.X405_splice	ENST00000534548		186	150	36	100	100	0	strelka-varscan-mutect	NCAPD3,splice_donor_variant,,ENST00000534548,NM_015261.2;NCAPD3,splice_donor_variant,,ENST00000534532,;NCAPD3,splice_donor_variant,,ENST00000525964,;NCAPD3,downstream_gene_variant,,ENST00000533155,;NCAPD3,downstream_gene_variant,,ENST00000528065,;	G	ENST00000534548	Transcript	splice_donor_variant	-/5061	1215/4497	405/1498				1		-1	NCAPD3	HGNC	HGNC:28952	protein_coding	YES	CCDS31723.1	ENSP00000433681	P42695		UPI00001C1EFE	NM_015261.2				10/34																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	45	134204044	134204044	A	G	1	0	0	0	0	0	0	1	0	10222	405	14	5		5	NCAPD3	11	134204044	Splice_Site	SNP	A	C3N-00293_TP	5431224	134204044	882578	203	13377											
GALNT8	0	.	GRCh38	chr12	4765432	4765432	+	Silent	SNP	G	G	A																															gtgggacaactgattgcagaGgccagtgctagtgatcgctg																								novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1647G>A	p.=	p.E549E	ENST00000252318	10/11	185	164	21	152	152	0	strelka-varscan-mutect	GALNT8,synonymous_variant,p.=,ENST00000252318,NM_017417.1;GALNT8,synonymous_variant,p.=,ENST00000542998,;GALNT8,synonymous_variant,p.=,ENST00000535354,;	A	ENST00000252318	Transcript	synonymous_variant	1984/2380	1647/1914	549/637	E	gaG/gaA		1		1	GALNT8	HGNC	HGNC:4130	protein_coding	YES	CCDS8533.1	ENSP00000252318	Q9NY28		UPI0000070DEC	NM_017417.1			10/11		Gene3D:2.80.10.50,Pfam_domain:PF00652,PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF50,SMART_domains:SM00458,Superfamily_domains:SSF50370																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	45	4765432	4765432	G	A	1	0	0	0	0	0	0	0	1	6090	991	35	3		3	GALNT8	12	4765432	Silent	SNP	G	C3N-00293_TP		4765432	128509877	204	13378	309	2									
GALNT8	0	.	GRCh38	chr12	4765433	4765433	+	Missense_Mutation	SNP	G	G	T																															tgggacaactgattgcagagGccagtgctagtgatcgctgc																								rs144271473		C3N-00293_TP	C3N-00293_NB	G	G																c.1648G>T	p.Ala550Ser	p.A550S	ENST00000252318	10/11	190	167	23	152	152	0	strelka-varscan-mutect	GALNT8,missense_variant,p.Ala550Ser,ENST00000252318,NM_017417.1;GALNT8,missense_variant,p.Ala67Ser,ENST00000542998,;GALNT8,missense_variant,p.Ala46Ser,ENST00000535354,;	T	ENST00000252318	Transcript	missense_variant	1985/2380	1648/1914	550/637	A/S	Gcc/Tcc	rs144271473,COSM693775	1		1	GALNT8	HGNC	HGNC:4130	protein_coding	YES	CCDS8533.1	ENSP00000252318	Q9NY28		UPI0000070DEC	NM_017417.1	tolerated(0.64)		10/11		Gene3D:2.80.10.50,Pfam_domain:PF00652,PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF50,SMART_domains:SM00458,Superfamily_domains:SSF50370											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs144271473	.												T	3	4	45	4765433	4765433	G	T	1	0	0	0	0	1	0	0	0	6090	1203	42	2		2	GALNT8	12	4765433	Missense_Mutation	SNP	G	C3N-00293_TP	1	4765433	128509876	205	13379	309	2									
TARBP2	0	.	GRCh38	chr12	53502159	53502159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaatttcaccttccgggtCaccgttggcgacaccagctg	7	10	9	15	3	2	0	2	0	0	0	3	1	3	0	5	2	1	2	5	2	1	4			C3N-00293_TP	C3N-00293_NB	C	C																c.198C>T	p.=	p.V66V	ENST00000266987	2/9	262	246	16	205	205	0	strelka-mutect	TARBP2,synonymous_variant,p.=,ENST00000266987,NM_134323.1;TARBP2,synonymous_variant,p.=,ENST00000394357,NM_134324.2;TARBP2,synonymous_variant,p.=,ENST00000456234,NM_004178.4;TARBP2,synonymous_variant,p.=,ENST00000550407,;TARBP2,intron_variant,,ENST00000552857,;TARBP2,intron_variant,,ENST00000547064,;TARBP2,intron_variant,,ENST00000552817,;MAP3K12,upstream_gene_variant,,ENST00000267079,NM_006301.3;MAP3K12,upstream_gene_variant,,ENST00000547488,NM_001193511.1;RP11-793H13.10,downstream_gene_variant,,ENST00000591834,;NPFF,downstream_gene_variant,,ENST00000267017,NM_003717.2;MAP3K12,upstream_gene_variant,,ENST00000548565,;RP11-793H13.11,upstream_gene_variant,,ENST00000602306,;TARBP2,non_coding_transcript_exon_variant,,ENST00000549028,;MAP3K12,upstream_gene_variant,,ENST00000547151,;TARBP2,synonymous_variant,p.=,ENST00000550147,;TARBP2,synonymous_variant,p.=,ENST00000549572,;TARBP2,synonymous_variant,p.=,ENST00000548971,;TARBP2,synonymous_variant,p.=,ENST00000549679,;TARBP2,synonymous_variant,p.=,ENST00000551741,;TARBP2,non_coding_transcript_exon_variant,,ENST00000549610,;TARBP2,non_coding_transcript_exon_variant,,ENST00000546889,;TARBP2,non_coding_transcript_exon_variant,,ENST00000552650,;TARBP2,intron_variant,,ENST00000547388,;RP11-793H13.10,downstream_gene_variant,,ENST00000448979,;TARBP2,upstream_gene_variant,,ENST00000551157,;TARBP2,upstream_gene_variant,,ENST00000546763,;MAP3K12,upstream_gene_variant,,ENST00000551895,;TARBP2,upstream_gene_variant,,ENST00000547541,;	T	ENST00000266987	Transcript	synonymous_variant	681/1867	198/1101	66/366	V	gtC/gtT	COSM431402	1		1	TARBP2	HGNC	HGNC:11569	protein_coding	YES	CCDS8861.1	ENSP00000266987	Q15633		UPI0000071D96	NM_134323.1			2/9		Gene3D:3.30.160.20,HAMAP:MF_03034,Pfam_domain:PF00035,PROSITE_profiles:PS50137,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF61,SMART_domains:SM00358,Superfamily_domains:SSF54768											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	45	53502159	53502159	C	T	1	0	0	0	0	0	0	0	1	15955	813	29	3		3	TARBP2	12	53502159	Silent	SNP	C	C3N-00293_TP	48736726	53502159	79773150	206	13380											
ANKRD52	0	.	GRCh38	chr12	56244735	56244735	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgttcacctcagcttgaTgctgcagcagcatccggagc	7	9	12	13	2	2	1	2	1	0	0	3	2	3	2	2	2	6	6	2	2	0	2	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.2639A>T	p.His880Leu	p.H880L	ENST00000267116	24/28	304	287	17	261	261	0	strelka-varscan-mutect	ANKRD52,missense_variant,p.His880Leu,ENST00000267116,NM_173595.3;ANKRD52,upstream_gene_variant,,ENST00000548241,;	A	ENST00000267116	Transcript	missense_variant	2761/8688	2639/3231	880/1076	H/L	cAt/cTt		1		-1	ANKRD52	HGNC	HGNC:26614	protein_coding	YES	CCDS44920.1	ENSP00000267116	Q8NB46		UPI0000237861	NM_173595.3	deleterious(0.01)		24/28		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24158:SF17,hmmpanther:PTHR24158,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	56244735	56244735	T	A	1	0	0	0	0	1	0	0	0	782	1464	51	4		4	ANKRD52	12	56244735	Missense_Mutation	SNP	T	C3N-00293_TP	2742576	56244735	77030574	207	13381											
DTX3	0	.	GRCh38	chr12	57607094	57607094	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctccaaatgggctctacctAgcccggaaggctctcaaggg	9	7	11	14	1	2	0	1	0	2	0	4	1	3	1	4	4	2	2	4	4	5	2	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.240A>C	p.=	p.L80L	ENST00000551632	4/6	266	238	28	198	198	0	strelka-varscan-mutect	DTX3,synonymous_variant,p.=,ENST00000548198,;DTX3,synonymous_variant,p.=,ENST00000548478,;DTX3,synonymous_variant,p.=,ENST00000548804,NM_001286246.1;DTX3,synonymous_variant,p.=,ENST00000337737,NM_178502.3;DTX3,synonymous_variant,p.=,ENST00000551632,NM_001286245.1;DTX3,synonymous_variant,p.=,ENST00000549583,;PIP4K2C,downstream_gene_variant,,ENST00000354947,;PIP4K2C,downstream_gene_variant,,ENST00000540759,NM_001146258.1,NM_024779.4;ARHGEF25,upstream_gene_variant,,ENST00000286494,NM_182947.3;ARHGEF25,upstream_gene_variant,,ENST00000333972,NM_001111270.2;ARHGEF25,upstream_gene_variant,,ENST00000616622,;DTX3,upstream_gene_variant,,ENST00000550300,;DTX3,downstream_gene_variant,,ENST00000550596,;DTX3,downstream_gene_variant,,ENST00000551835,;	C	ENST00000551632	Transcript	synonymous_variant	375/1840	240/1053	80/350	L	ctA/ctC		1		1	DTX3	HGNC	HGNC:24457	protein_coding	YES	CCDS66410.1	ENSP00000448696	Q8N9I9		UPI000006EA20	NM_001286245.1			4/6		hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF24,Low_complexity_(Seg):seg																	LOW		SNV	2			1										PASS		.	.												C	2	2	45	57607094	57607094	A	C	1	0	0	0	0	0	0	0	1	4618	407	15	5		5	DTX3	12	57607094	Silent	SNP	A	C3N-00293_TP	1362359	57607094	75668215	208	13382											
GRIP1	0	.	GRCh38	chr12	66371729	66371729	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggagttggagacatgatctCctttatttcttgtttcattt	8	19	8	6	0	3	2	1	1	2	1	4	4	3	3	1	2	0	2	1	2	1	7	rs371211164		C3N-00293_TP	C3N-00293_NB	C	C																c.2821G>C	p.Glu941Gln	p.E941Q	ENST00000398016	22/24	451	422	29	295	295	0	strelka-varscan-mutect	GRIP1,missense_variant,p.Glu993Gln,ENST00000359742,;GRIP1,missense_variant,p.Glu941Gln,ENST00000398016,NM_021150.3;GRIP1,missense_variant,p.Glu926Gln,ENST00000538211,NM_001178074.1;GRIP1,missense_variant,p.Glu793Gln,ENST00000538164,;GRIP1,intron_variant,,ENST00000540854,;GRIP1,downstream_gene_variant,,ENST00000540433,;GRIP1,downstream_gene_variant,,ENST00000536215,;GRIP1,non_coding_transcript_exon_variant,,ENST00000535323,;GRIP1,downstream_gene_variant,,ENST00000541299,;	G	ENST00000398016	Transcript	missense_variant	2890/4888	2821/3231	941/1076	E/Q	Gag/Cag	rs371211164	1		-1	GRIP1	HGNC	HGNC:18708	protein_coding	YES	CCDS41807.1	ENSP00000381098	Q9Y3R0		UPI0000DD8148	NM_021150.3	deleterious(0.05)		22/24		hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF39,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		rs371211164	.												G	3	3	45	66371729	66371729	C	G	1	0	0	0	0	1	0	0	0	6668	864	30	4		4	GRIP1	12	66371729	Missense_Mutation	SNP	C	C3N-00293_TP	8764635	66371729	66903580	209	13383											
GRIP1	0	.	GRCh38	chr12	66371754	66371754	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttcttgtttcatttttctCagggttactgacttcctacc	6	20	5	10	0	3	1	2	1	2	0	5	1	4	1	2	1	2	2	2	1	2	8	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.2796G>C	p.=	p.L932L	ENST00000398016	22/24	501	469	32	324	324	0	strelka-varscan-mutect	GRIP1,synonymous_variant,p.=,ENST00000359742,;GRIP1,synonymous_variant,p.=,ENST00000398016,NM_021150.3;GRIP1,synonymous_variant,p.=,ENST00000538211,NM_001178074.1;GRIP1,synonymous_variant,p.=,ENST00000538164,;GRIP1,synonymous_variant,p.=,ENST00000540433,;GRIP1,intron_variant,,ENST00000540854,;GRIP1,downstream_gene_variant,,ENST00000536215,;GRIP1,non_coding_transcript_exon_variant,,ENST00000535323,;GRIP1,downstream_gene_variant,,ENST00000541299,;	G	ENST00000398016	Transcript	synonymous_variant	2865/4888	2796/3231	932/1076	L	ctG/ctC		1		-1	GRIP1	HGNC	HGNC:18708	protein_coding	YES	CCDS41807.1	ENSP00000381098	Q9Y3R0		UPI0000DD8148	NM_021150.3			22/24		hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF39																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	45	66371754	66371754	C	G	1	0	0	0	0	0	0	0	1	6668	813	29	4		4	GRIP1	12	66371754	Silent	SNP	C	C3N-00293_TP	25	66371754	66903555	210	13384											
KCNC2	0	.	GRCh38	chr12	75051158	75051158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacactccttctacatacgTcaaggcaggatccgtttcaa	12	10	6	13	2	3	0	2	0	1	0	5	1	5	1	2	2	2	2	2	2	4	4	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.847A>G	p.Thr283Ala	p.T283A	ENST00000549446	3/5	263	246	17	153	153	0	strelka-varscan-mutect	KCNC2,missense_variant,p.Thr283Ala,ENST00000549446,NM_139137.3;KCNC2,missense_variant,p.Thr283Ala,ENST00000298972,NM_139136.3;KCNC2,missense_variant,p.Thr283Ala,ENST00000350228,NM_153748.2;KCNC2,missense_variant,p.Thr283Ala,ENST00000548513,;KCNC2,missense_variant,p.Thr283Ala,ENST00000550433,NM_001260498.1;KCNC2,missense_variant,p.Thr283Ala,ENST00000393288,NM_001260497.1;KCNC2,missense_variant,p.Thr283Ala,ENST00000540018,NM_001260499.1;KCNC2,non_coding_transcript_exon_variant,,ENST00000546456,;KCNC2,upstream_gene_variant,,ENST00000548243,;	C	ENST00000549446	Transcript	missense_variant	1528/5625	847/1917	283/638	T/A	Acg/Gcg		1		-1	KCNC2	HGNC	HGNC:6234	protein_coding	YES	CCDS9007.1	ENSP00000449253	Q96PR1	A0A024RBA5	UPI000004DB9B	NM_139137.3	tolerated(0.23)		3/5		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF157,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	75051158	75051158	T	C	1	0	0	0	0	1	0	0	0	7931	1667	58	5		5	KCNC2	12	75051158	Missense_Mutation	SNP	T	C3N-00293_TP	8679404	75051158	58224151	211	13385											
PHLDA1	0	.	GRCh38	chr12	76031111	76031111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccactgggttgggacggctCggccggcccctgcccgggct	2	6	17	16	4	0	0	0	0	0	0	1	1	0	1	5	6	1	3	5	6	0	1	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.631G>A	p.Glu211Lys	p.E211K	ENST00000266671	1/2	386	355	31	300	300	0	strelka-varscan-mutect	PHLDA1,missense_variant,p.Glu211Lys,ENST00000266671,;PHLDA1,missense_variant,p.Glu211Lys,ENST00000619060,NM_007350.3;PHLDA1,missense_variant,p.Glu70Lys,ENST00000602540,;RP11-290L1.3,non_coding_transcript_exon_variant,,ENST00000552367,;RP11-290L1.2,upstream_gene_variant,,ENST00000547721,;	T	ENST00000266671	Transcript	missense_variant	2822/8069	631/1206	211/401	E/K	Gag/Aag		1		-1	PHLDA1	HGNC	HGNC:8933	protein_coding	YES	CCDS31861.1	ENSP00000266671	Q8WV24		UPI000013D704		deleterious_low_confidence(0.01)		1/2		hmmpanther:PTHR15478:SF4,hmmpanther:PTHR15478,SMART_domains:SM00233																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	76031111	76031111	C	T	1	0	0	0	0	1	0	0	0	11936	893	31	1		1	PHLDA1	12	76031111	Missense_Mutation	SNP	C	C3N-00293_TP	979953	76031111	57244198	212	13386											
OTOGL	0	.	GRCh38	chr12	80320456	80320456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttggaatctgctgaaagGccaaactactttctctatgt	10	14	7	10	0	2	1	0	1	2	0	4	2	3	2	2	2	3	1	2	2	5	4	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.3810G>T	p.Arg1270Ser	p.R1270S	ENST00000458043	33/58	202	180	22	141	141	0	strelka-varscan-mutect	OTOGL,missense_variant,p.Arg1270Ser,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Arg1270Ser,ENST00000547103,;	T	ENST00000458043	Transcript	missense_variant	3816/8083	3810/7035	1270/2344	R/S	agG/agT		1		1	OTOGL	HGNC	HGNC:26901	protein_coding	YES		ENSP00000400895		A0A0A0MSS2	UPI0001D089C5	NM_173591.3	deleterious(0)		33/58		Pfam_domain:PF05270,Gene3D:2.80.10.50,Superfamily_domains:0050434																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	45	80320456	80320456	G	T	1	0	0	0	0	1	0	0	0	11371	1194	42	2		2	OTOGL	12	80320456	Missense_Mutation	SNP	G	C3N-00293_TP	4289345	80320456	52954853	213	13387											
MYF6	0	.	GRCh38	chr12	80708930	80708930	+	Frame_Shift_Del	DEL	C	C	-																															tcctcggaggaacgcaaactCccctgcgtggaggaagtggt																								novel		C3N-00293_TP	C3N-00293_NB	C	C																c.702delC	p.Cys235AlafsTer10	p.C235Afs*10	ENST00000228641	3/3	461	428	33	364	364	0	sindel-varindel-pindel	MYF6,frameshift_variant,p.Cys235AlafsTer10,ENST00000228641,NM_002469.2;	-	ENST00000228641	Transcript	frameshift_variant	921/1465	699/729	233/242	L/X	ctC/ct		1		1	MYF6	HGNC	HGNC:7566	protein_coding	YES	CCDS9019.1	ENSP00000228641	P23409		UPI0000001050	NM_002469.2			3/3		hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF4																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	45	80708930	80708930	C	-	1	0	1	0	1	0	0	0	0	10028	842	30	0		0	MYF6	12	80708930	Frame_Shift_Del	DEL	C	C3N-00293_TP	388474	80708930	52566379	214	13388											
CCER1	0	.	GRCh38	chr12	90954131	90954131	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgacgctccaccttctcCtgctgcctcatgtcctcgta	4	13	7	17	2	2	1	1	1	1	0	6	1	4	1	5	0	3	4	5	0	1	2	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.612G>A	p.=	p.Q204Q	ENST00000358859	1/1	410	380	30	295	295	0	strelka-varscan-mutect	CCER1,synonymous_variant,p.=,ENST00000358859,NM_152638.3;CCER1,intron_variant,,ENST00000548187,;CCER1,upstream_gene_variant,,ENST00000549707,;	T	ENST00000358859	Transcript	synonymous_variant	1046/2962	612/1221	204/406	Q	caG/caA		1		-1	CCER1	HGNC	HGNC:28373	protein_coding	YES	CCDS9036.1	ENSP00000351727	Q8TC90		UPI000006EE70	NM_152638.3			1/1		hmmpanther:PTHR37337:SF1,hmmpanther:PTHR37337,Pfam_domain:PF15482																	LOW	1	SNV				1										PASS		rs1190954250	.												T	2	4	45	90954131	90954131	C	T	1	0	0	0	0	0	0	0	1	2574	680	24	3		3	CCER1	12	90954131	Silent	SNP	C	C3N-00293_TP	10245201	90954131	42321178	215	13389											
NR2C1	0	.	GRCh38	chr12	95058339	95058339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattccaaacgcaatacatCtctgtaacctgcagtattga	13	12	5	11	1	2	1	1	1	1	0	4	1	3	1	2	0	4	4	2	0	5	5	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.515G>A	p.Arg172Lys	p.R172K	ENST00000333003	5/14	223	204	19	106	106	0	strelka-varscan-mutect	NR2C1,missense_variant,p.Arg172Lys,ENST00000333003,NM_003297.3;NR2C1,missense_variant,p.Arg172Lys,ENST00000330677,NM_001127362.1;NR2C1,missense_variant,p.Arg172Lys,ENST00000393101,NM_001032287.2;NR2C1,missense_variant,p.Arg172Lys,ENST00000622476,;NR2C1,non_coding_transcript_exon_variant,,ENST00000545833,;NR2C1,intron_variant,,ENST00000548252,;NR2C1,downstream_gene_variant,,ENST00000551386,;NR2C1,upstream_gene_variant,,ENST00000547594,;NR2C1,downstream_gene_variant,,ENST00000546367,;NR2C1,downstream_gene_variant,,ENST00000548966,;NR2C1,downstream_gene_variant,,ENST00000552417,;NR2C1,non_coding_transcript_exon_variant,,ENST00000552861,;	T	ENST00000333003	Transcript	missense_variant	846/4143	515/1812	172/603	R/K	aGa/aAa		1		-1	NR2C1	HGNC	HGNC:7971	protein_coding	YES	CCDS9051.1	ENSP00000333275	P13056	H9NIM2	UPI00001AE7E6	NM_003297.3	tolerated(1)		5/14		Gene3D:1.10.565.10,Pfam_domain:PF00105,Prints_domain:PR00047,PROSITE_profiles:PS51030,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF49,SMART_domains:SM00399,Superfamily_domains:SSF57716																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	45	95058339	95058339	C	T	1	0	0	0	0	1	0	0	0	10678	913	32	3		3	NR2C1	12	95058339	Missense_Mutation	SNP	C	C3N-00293_TP	4104208	95058339	38216970	216	13390											
STAB2	0	.	GRCh38	chr12	103750625	103750625	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactatgtcggagatgggcTgaactgtgagccggagcagc	9	8	15	9	2	1	3	1	2	0	1	2	5	1	4	1	3	4	2	1	3	2	1	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.6485T>C	p.Leu2162Pro	p.L2162P	ENST00000388887	60/69	197	186	11	162	162	0	strelka-varscan-mutect	STAB2,missense_variant,p.Leu2162Pro,ENST00000388887,NM_017564.9;RP11-341G23.4,intron_variant,,ENST00000551299,;STAB2,upstream_gene_variant,,ENST00000548073,;	C	ENST00000388887	Transcript	missense_variant	6689/8251	6485/7656	2162/2551	L/P	cTg/cCg		1		1	STAB2	HGNC	HGNC:18629	protein_coding	YES	CCDS31888.1	ENSP00000373539	Q8WWQ8		UPI00001ADDF4	NM_017564.9	deleterious(0.02)		60/69		PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:2.40.155.10,Pfam_domain:PF12947,SMART_domains:SM00181,SMART_domains:SM00179																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	103750625	103750625	T	C	1	0	0	0	0	1	0	0	0	15616	1580	55	5		5	STAB2	12	103750625	Missense_Mutation	SNP	T	C3N-00293_TP	8692286	103750625	29524684	217	13391											
SLC8B1	0	.	GRCh38	chr12	113299787	113299787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggcttcagtcacatgcttTtcaggtgaatcactccaaat	10	12	8	11	1	4	1	4	1	0	0	5	1	5	1	1	2	1	2	1	2	2	3	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.1745A>G	p.Lys582Arg	p.K582R	ENST00000552014	17/17	272	258	14	211	210	1	varscan-mutect	SLC8B1,missense_variant,p.Lys582Arg,ENST00000552014,;SLC8B1,missense_variant,p.Lys582Arg,ENST00000202831,NM_024959.2;SLC8B1,missense_variant,p.Lys97Arg,ENST00000550047,;SLC8B1,missense_variant,p.Lys526Arg,ENST00000546737,;SLC8B1,missense_variant,p.Lys141Arg,ENST00000549069,;TPCN1,downstream_gene_variant,,ENST00000550785,NM_001143819.2;TPCN1,downstream_gene_variant,,ENST00000335509,NM_017901.5;TPCN1,downstream_gene_variant,,ENST00000541517,;TPCN1,downstream_gene_variant,,ENST00000392569,NM_001301214.1;TPCN1,downstream_gene_variant,,ENST00000546787,;SLC8B1,3_prime_UTR_variant,,ENST00000550672,;SLC8B1,non_coding_transcript_exon_variant,,ENST00000552565,;TPCN1,downstream_gene_variant,,ENST00000552077,;TPCN1,downstream_gene_variant,,ENST00000551127,;	C	ENST00000552014	Transcript	missense_variant	2261/3289	1745/1755	582/584	K/R	aAa/aGa		1		-1	SLC8B1	HGNC	HGNC:26175	protein_coding	YES	CCDS31909.1	ENSP00000447091	Q6J4K2		UPI000004FA44		tolerated(0.17)		17/17																			MODERATE	1	SNV	1			1										PASS		rs1442219898	.												C	3	2	45	113299787	113299787	T	C	1	0	0	0	0	1	0	0	0	14992	1841	64	5		5	SLC8B1	12	113299787	Missense_Mutation	SNP	T	C3N-00293_TP	9549162	113299787	19975522	218	13392											
SRRM4	0	.	GRCh38	chr12	119125422	119125422	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcaccgccaccgccatcAccgctgcccctcgcggtccc	4	6	8	23	5	2	0	2	0	1	0	5	0	3	0	8	1	1	1	8	1	0	0	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.557A>T	p.His186Leu	p.H186L	ENST00000267260	7/13	165	151	14	139	139	0	strelka-mutect	SRRM4,missense_variant,p.His186Leu,ENST00000267260,NM_194286.3;SRRM4,non_coding_transcript_exon_variant,,ENST00000537597,;SRRM4,non_coding_transcript_exon_variant,,ENST00000545224,;	T	ENST00000267260	Transcript	missense_variant	945/8477	557/1836	186/611	H/L	cAc/cTc		1		1	SRRM4	HGNC	HGNC:29389	protein_coding	YES	CCDS44994.1	ENSP00000267260	A7MD48	V5T9A0	UPI00001FBC3F	NM_194286.3	deleterious_low_confidence(0.02)		7/13		hmmpanther:PTHR34755,hmmpanther:PTHR34755:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	119125422	119125422	A	T	1	0	0	0	0	1	0	0	0	15532	159	6	4		4	SRRM4	12	119125422	Missense_Mutation	SNP	A	C3N-00293_TP	5825635	119125422	14149887	219	13393											
SETD1B	0	.	GRCh38	chr12	121809908	121809908	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaagttcacggacgcctaCaaccgccgccacgaacatca	13	4	8	16	5	2	0	2	0	0	0	2	2	2	1	4	1	4	2	4	1	4	2	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.963C>A	p.Tyr321Ter	p.Y321*	ENST00000542440	6/18	377	357	20	327	327	0	strelka-varscan-mutect	SETD1B,stop_gained,p.Tyr321Ter,ENST00000542440,NM_015048.1;SETD1B,stop_gained,p.Tyr321Ter,ENST00000604567,;SETD1B,stop_gained,p.Tyr321Ter,ENST00000619791,;SETD1B,stop_gained,p.Tyr321Ter,ENST00000267197,;	A	ENST00000542440	Transcript	stop_gained	1031/8185	963/5772	321/1923	Y/*	taC/taA		1		1	SETD1B	HGNC	HGNC:29187	protein_coding	YES	CCDS53838.1	ENSP00000442924	Q9UPS6		UPI00006C12ED	NM_015048.1			6/18																			HIGH	1	SNV	5			1										PASS		.	.												A	4	1	45	121809908	121809908	C	A	1	0	0	0	0	0	1	0	0	14408	489	17	2		2	SETD1B	12	121809908	Nonsense_Mutation	SNP	C	C3N-00293_TP	2684486	121809908	11465401	220	13394											
NUP58	0	.	GRCh38	chr13	25324994	25324994	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctggtatattaggagttGaagaatgctgaaatagcttt	12	14	10	5	0	1	3	0	2	1	1	1	4	1	4	1	2	2	4	1	2	7	6	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.957G>C	p.Leu319Phe	p.L319F	ENST00000381736	10/16	157	142	15	87	87	0	varscan-mutect	NUP58,missense_variant,p.Leu319Phe,ENST00000463407,;NUP58,missense_variant,p.Leu319Phe,ENST00000381736,NM_014089.3;NUP58,missense_variant,p.Leu307Phe,ENST00000381718,NM_001008564.1;NUP58,missense_variant,p.Leu319Phe,ENST00000381747,;NUP58,missense_variant,p.Leu266Phe,ENST00000394327,;NUP58,non_coding_transcript_exon_variant,,ENST00000466694,;NUP58,non_coding_transcript_exon_variant,,ENST00000476553,;	C	ENST00000381736	Transcript	missense_variant	1207/4332	957/1800	319/599	L/F	ttG/ttC		1		1	NUP58	HGNC	HGNC:20261	protein_coding	YES	CCDS9314.1	ENSP00000371155	Q9BVL2		UPI000006D9D4	NM_014089.3	deleterious(0)		10/16		hmmpanther:PTHR13437,Pfam_domain:PF15967																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	25324994	25324994	G	C	1	0	0	0	0	1	0	0	0	10833	1304	45	4		4	NUP58	13	25324994	Missense_Mutation	SNP	G	C3N-00293_TP		25324994	89039334	221	13395											
RXFP2	0	.	GRCh38	chr13	31792718	31792718	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttacttgttctttgttggCattttcgatataaaataccg	9	19	7	6	2	1	0	0	0	1	0	2	1	1	0	1	1	2	4	1	1	5	11	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1416C>T	p.=	p.G472G	ENST00000298386	16/18	335	304	31	250	250	0	strelka-varscan-mutect	RXFP2,synonymous_variant,p.=,ENST00000298386,NM_130806.3;RXFP2,synonymous_variant,p.=,ENST00000380314,NM_001166058.1;	T	ENST00000298386	Transcript	synonymous_variant	1487/3319	1416/2265	472/754	G	ggC/ggT		1		1	RXFP2	HGNC	HGNC:17318	protein_coding	YES	CCDS9342.1	ENSP00000298386	Q8WXD0		UPI0000049589	NM_130806.3			16/18		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24365:SF226,hmmpanther:PTHR24365,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01739																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	45	31792718	31792718	C	T	1	0	0	0	0	0	0	0	1	14021	697	25	3		3	RXFP2	13	31792718	Silent	SNP	C	C3N-00293_TP	6467724	31792718	82571610	222	13396											
SLC25A30	0	.	GRCh38	chr13	45402277	45402277	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatccttctggcttacctTccacagtcctcttgtcccct	4	15	4	18	0	2	0	0	0	2	0	7	0	7	0	7	1	1	1	7	1	1	4	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.487A>G	p.Lys163Glu	p.K163E	ENST00000519676	6/10	191	180	11	105	105	0	strelka-mutect	SLC25A30,missense_variant,p.Lys163Glu,ENST00000519676,NM_001010875.3;SLC25A30,missense_variant,p.Lys112Glu,ENST00000539591,NM_001286807.1,NM_001286806.1;SLC25A30,missense_variant,p.Lys112Glu,ENST00000519547,;SLC25A30,missense_variant,p.Lys28Glu,ENST00000618165,;SLC25A30,missense_variant,p.Lys88Glu,ENST00000522438,;SLC25A30,splice_region_variant,,ENST00000523988,;SLC25A30,splice_region_variant,,ENST00000310862,;SLC25A30,downstream_gene_variant,,ENST00000463262,;	C	ENST00000519676	Transcript	missense_variant,splice_region_variant	623/3670	487/876	163/291	K/E	Aag/Gag		1		-1	SLC25A30	HGNC	HGNC:27371	protein_coding	YES	CCDS31967.1	ENSP00000429168	Q5SVS4		UPI00001417EE	NM_001010875.3	deleterious(0.02)		6/10		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF290,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588,Prints_domain:PR00784																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	45402277	45402277	T	C	1	0	0	0	0	1	0	0	0	14759	1797	62	5		5	SLC25A30	13	45402277	Missense_Mutation	SNP	T	C3N-00293_TP	13609559	45402277	68962051	223	13397											
CCDC168	0	.	GRCh38	chr13	102745820	102745820	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctaacatgactctctaccTtttcaaatggaaattgatcc	13	13	4	11	0	2	2	1	2	1	0	4	3	3	3	3	1	2	0	3	1	4	5	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.4877A>T	p.Lys1626Met	p.K1626M	ENST00000322527	4/4	313	275	38	132	131	1	strelka-varscan-mutect	CCDC168,missense_variant,p.Lys1626Met,ENST00000322527,NM_001146197.1;LINC00283,downstream_gene_variant,,ENST00000430111,;	A	ENST00000322527	Transcript	missense_variant	5015/21466	4877/21246	1626/7081	K/M	aAg/aTg		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	deleterious(0)		4/4																			MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	45	102745820	102745820	T	A	1	0	0	0	0	1	0	0	0	2484	1609	56	4		4	CCDC168	13	102745820	Missense_Mutation	SNP	T	C3N-00293_TP	57343543	102745820	11618508	224	13398											
SLC10A2	0	.	GRCh38	chr13	103066049	103066049	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaagccaacacaaatGccccacggccgctttatgtg	12	6	10	13	2	0	1	0	0	0	1	0	2	0	2	4	2	3	1	4	2	4	2			C3N-00293_TP	C3N-00293_NB	G	G																c.201C>A	p.=	p.G67G	ENST00000245312	1/6	218	194	24	134	134	0	strelka-varscan-mutect	SLC10A2,synonymous_variant,p.=,ENST00000245312,NM_000452.2;	T	ENST00000245312	Transcript	synonymous_variant	798/3779	201/1047	67/348	G	ggC/ggA	COSM945216	1		-1	SLC10A2	HGNC	HGNC:10906	protein_coding	YES	CCDS9506.1	ENSP00000245312	Q12908		UPI000013CB9B	NM_000452.2			1/6		hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF19,TIGRFAM_domain:TIGR00841,Pfam_domain:PF01758											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	45	103066049	103066049	G	T	1	0	0	0	0	0	0	0	1	14639	1306	46	2		2	SLC10A2	13	103066049	Silent	SNP	G	C3N-00293_TP	320229	103066049	11298279	225	13399											
UPF3A	0	.	GRCh38	chr13	114301753	114301753	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacacagcggcagtgataaaGagcacagggatgtggagaga	15	4	15	7	1	0	3	0	1	0	2	0	6	0	5	0	3	2	2	0	3	2	1	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1030G>C	p.Glu344Gln	p.E344Q	ENST00000375299	9/10	166	154	12	108	108	0	varscan-mutect	UPF3A,missense_variant,p.Glu344Gln,ENST00000375299,NM_023011.3;UPF3A,missense_variant,p.Glu311Gln,ENST00000351487,NM_080687.2;UPF3A,non_coding_transcript_exon_variant,,ENST00000475218,;UPF3A,non_coding_transcript_exon_variant,,ENST00000480362,;UPF3A,non_coding_transcript_exon_variant,,ENST00000493727,;UPF3A,non_coding_transcript_exon_variant,,ENST00000474056,;CLCP2,upstream_gene_variant,,ENST00000392050,;	C	ENST00000375299	Transcript	missense_variant	1086/2387	1030/1431	344/476	E/Q	Gag/Cag		1		1	UPF3A	HGNC	HGNC:20332	protein_coding	YES	CCDS9543.1	ENSP00000364448	Q9H1J1		UPI0000072FCB	NM_023011.3	deleterious(0.01)		9/10		hmmpanther:PTHR13112,hmmpanther:PTHR13112:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	114301753	114301753	G	C	1	0	0	0	0	1	0	0	0	17531	943	33	4		4	UPF3A	13	114301753	Missense_Mutation	SNP	G	C3N-00293_TP	11235704	114301753	62575	226	13400											
RNF31	0	.	GRCh38	chr14	24157963	24157963	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccaccctcgagactgcctCttctacctgcgggactggac	7	8	9	17	2	2	1	0	0	2	1	3	4	2	3	4	2	3	0	4	2	1	2	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.2793C>G	p.=	p.L931L	ENST00000324103	17/21	272	251	21	208	208	0	strelka-varscan-mutect	RNF31,synonymous_variant,p.=,ENST00000324103,NM_017999.4;RNF31,synonymous_variant,p.=,ENST00000559275,NM_001310332.1;RNF31,synonymous_variant,p.=,ENST00000560787,;RNF31,intron_variant,,ENST00000559719,;IRF9,upstream_gene_variant,,ENST00000396864,NM_006084.4;IRF9,upstream_gene_variant,,ENST00000557894,;IRF9,upstream_gene_variant,,ENST00000560275,;RNF31,downstream_gene_variant,,ENST00000560754,;IRF9,upstream_gene_variant,,ENST00000559284,;RNA5SP383,upstream_gene_variant,,ENST00000362934,;RP11-468E2.4,synonymous_variant,p.=,ENST00000558468,;RNF31,synonymous_variant,p.=,ENST00000559449,;RNF31,synonymous_variant,p.=,ENST00000483895,;RNF31,3_prime_UTR_variant,,ENST00000491351,;RNF31,non_coding_transcript_exon_variant,,ENST00000559071,;IRF9,upstream_gene_variant,,ENST00000561415,;IRF9,upstream_gene_variant,,ENST00000561342,;IRF9,upstream_gene_variant,,ENST00000560852,;IRF9,upstream_gene_variant,,ENST00000560365,;IRF9,upstream_gene_variant,,ENST00000561412,;RNF31,downstream_gene_variant,,ENST00000558452,;IRF9,upstream_gene_variant,,ENST00000561009,;RNF31,upstream_gene_variant,,ENST00000559491,;RNF31,upstream_gene_variant,,ENST00000560631,;	G	ENST00000324103	Transcript	synonymous_variant	3113/3627	2793/3219	931/1072	L	ctC/ctG		1		1	RNF31	HGNC	HGNC:16031	protein_coding	YES	CCDS41931.1	ENSP00000315112	Q96EP0		UPI0000072F93	NM_017999.4			17/21		hmmpanther:PTHR16004,Superfamily_domains:SSF57850																	LOW	1	SNV	1			1										PASS		rs1334781055	.												G	2	3	45	24157963	24157963	C	G	1	0	0	0	0	0	0	0	1	13667	900	32	4		4	RNF31	14	24157963	Silent	SNP	C	C3N-00293_TP		24157963	82885755	227	13401											
ARHGAP5	0	.	GRCh38	chr14	32092249	32092249	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttctgagtgaagaacctaGatataaagctttacagaaac	17	10	8	6	0	1	5	0	2	1	3	1	5	1	5	1	0	4	2	1	0	8	6	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1580G>C	p.Arg527Thr	p.R527T	ENST00000345122	2/7	176	167	9	87	87	0	varscan-mutect	ARHGAP5,missense_variant,p.Arg527Thr,ENST00000345122,NM_001030055.1;ARHGAP5,missense_variant,p.Arg527Thr,ENST00000432921,;ARHGAP5,missense_variant,p.Arg527Thr,ENST00000539826,;ARHGAP5,missense_variant,p.Arg527Thr,ENST00000556611,NM_001173.2;ARHGAP5,intron_variant,,ENST00000396582,;ARHGAP5,intron_variant,,ENST00000433497,;ARHGAP5,intron_variant,,ENST00000554090,;ARHGAP5,downstream_gene_variant,,ENST00000556191,;ARHGAP5,downstream_gene_variant,,ENST00000555814,;ARHGAP5,upstream_gene_variant,,ENST00000557643,;	C	ENST00000345122	Transcript	missense_variant	1895/9604	1580/4509	527/1502	R/T	aGa/aCa		1		1	ARHGAP5	HGNC	HGNC:675	protein_coding	YES	CCDS32062.1	ENSP00000371897	Q13017		UPI000057B85C	NM_001030055.1	deleterious(0)		2/7		Pfam_domain:PF01846,PROSITE_profiles:PS51676,hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4,SMART_domains:SM00441																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	45	32092249	32092249	G	C	1	0	0	0	0	1	0	0	0	1016	942	33	4		4	ARHGAP5	14	32092249	Missense_Mutation	SNP	G	C3N-00293_TP	7934286	32092249	74951469	228	13402											
MIS18BP1	0	.	GRCh38	chr14	45224334	45224334	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgattttctattttcttCaattttggtaatagtctggt	8	21	6	6	0	4	1	1	1	3	0	4	1	4	1	1	2	0	1	1	2	4	10	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.2253G>A	p.=	p.L751L	ENST00000310806	11/17	327	309	18	172	172	0	strelka-varscan-mutect	MIS18BP1,synonymous_variant,p.=,ENST00000310806,NM_018353.4;MIS18BP1,downstream_gene_variant,,ENST00000454990,;MIS18BP1,downstream_gene_variant,,ENST00000453142,;MIS18BP1,upstream_gene_variant,,ENST00000469020,;MIS18BP1,upstream_gene_variant,,ENST00000554093,;MIS18BP1,downstream_gene_variant,,ENST00000555653,;	T	ENST00000310806	Transcript	synonymous_variant	2712/4777	2253/3399	751/1132	L	ttG/ttA		1		-1	MIS18BP1	HGNC	HGNC:20190	protein_coding	YES	CCDS9684.1	ENSP00000309790	Q6P0N0		UPI00001FD488	NM_018353.4			11/17		hmmpanther:PTHR16124,hmmpanther:PTHR16124:SF3																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	45	45224334	45224334	C	T	1	0	0	0	0	0	0	0	1	9561	825	29	3		3	MIS18BP1	14	45224334	Silent	SNP	C	C3N-00293_TP	13132085	45224334	61819384	229	13403											
NIN	0	.	GRCh38	chr14	50757879	50757879	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccttgctgaagcagggAcagggctccatctccttcca	7	9	9	16	0	1	1	0	1	1	0	5	2	4	2	5	2	2	3	5	2	1	2	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.3151T>A	p.Ser1051Thr	p.S1051T	ENST00000382041	18/30	198	184	14	182	182	0	strelka-varscan-mutect	NIN,missense_variant,p.Ser1051Thr,ENST00000245441,NM_020921.3;NIN,missense_variant,p.Ser1051Thr,ENST00000530997,;NIN,missense_variant,p.Ser1051Thr,ENST00000453196,NM_182944.2;NIN,missense_variant,p.Ser1051Thr,ENST00000382041,NM_182946.1;NIN,missense_variant,p.Ser542Thr,ENST00000530853,;NIN,missense_variant,p.Ser542Thr,ENST00000389869,;NIN,intron_variant,,ENST00000324330,NM_016350.4;NIN,intron_variant,,ENST00000382043,;NIN,missense_variant,p.Ser1051Thr,ENST00000476352,;	T	ENST00000382041	Transcript	missense_variant	3342/6496	3151/6273	1051/2090	S/T	Tcc/Acc		1		-1	NIN	HGNC	HGNC:14906	protein_coding	YES	CCDS32079.1	ENSP00000371472	Q8N4C6		UPI0000DBEF14	NM_182946.1	tolerated(0.09)		18/30		hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF11,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	50757879	50757879	A	T	1	0	0	0	0	1	0	0	0	10452	275	10	4		4	NIN	14	50757879	Missense_Mutation	SNP	A	C3N-00293_TP	5533545	50757879	56285839	230	13404											
NID2	0	.	GRCh38	chr14	52027265	52027265	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgaacgtgctgcctccAtggtgaacacaccgggcctg	8	7	12	14	2	0	2	0	2	0	0	1	2	1	2	4	2	5	2	4	2	2	0	rs776963906		C3N-00293_TP	C3N-00293_NB	A	A																c.2610T>A	p.His870Gln	p.H870Q	ENST00000216286	12/22	125	109	16	118	118	0	strelka-varscan-mutect	NID2,missense_variant,p.His870Gln,ENST00000216286,NM_007361.3;NID2,missense_variant,p.His464Gln,ENST00000617139,;NID2,intron_variant,,ENST00000556572,;NID2,downstream_gene_variant,,ENST00000554284,;	T	ENST00000216286	Transcript	missense_variant	2610/4811	2610/4128	870/1375	H/Q	caT/caA	rs776963906	1		-1	NID2	HGNC	HGNC:13389	protein_coding	YES	CCDS9706.1	ENSP00000216286	Q14112		UPI000013C6E1	NM_007361.3	tolerated(0.26)		12/22		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF5,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		rs776963906	.												T	3	4	45	52027265	52027265	A	T	1	0	0	0	0	1	0	0	0	10448	214	8	4		4	NID2	14	52027265	Missense_Mutation	SNP	A	C3N-00293_TP	1269386	52027265	55016453	231	13405											
C14orf37	0	.	GRCh38	chr14	58005158	58005158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatcccaacccctacaggcaCcagcatcccagacatgtaac	13	6	5	17	0	0	1	0	0	0	1	2	1	2	1	5	1	4	3	5	1	4	3	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.2146G>T	p.Val716Leu	p.V716L	ENST00000267485	7/8	301	280	21	217	217	0	strelka-varscan-mutect	C14orf37,missense_variant,p.Val716Leu,ENST00000267485,NM_001001872.2;C14orf37,upstream_gene_variant,,ENST00000556788,;	A	ENST00000267485	Transcript	missense_variant	2341/6495	2146/2325	716/774	V/L	Gtg/Ttg		1		-1	C14orf37	HGNC	HGNC:19846	protein_coding	YES	CCDS32089.1	ENSP00000267485	Q86TY3		UPI000000CC37	NM_001001872.2	deleterious(0.01)		7/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR21585,hmmpanther:PTHR21585:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	58005158	58005158	C	A	1	0	0	0	0	1	0	0	0	1838	507	18	2		2	C14orf37	14	58005158	Missense_Mutation	SNP	C	C3N-00293_TP	5977893	58005158	49038560	232	13406											
SNRPN	0	.	GRCh38	chr15	24976998	24976998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctggattggcaggccCtgtccgaggagttgggggac	5	8	17	11	1	0	0	0	0	0	0	1	4	1	3	3	6	1	3	3	6	0	2			C3N-00293_TP	C3N-00293_NB	C	C																c.389C>A	p.Pro130His	p.P130H	ENST00000400100	10/13	113	98	15	76	76	0	strelka-varscan-mutect	SNRPN,missense_variant,p.Pro134His,ENST00000554227,;SNRPN,missense_variant,p.Pro130His,ENST00000400100,NM_022807.2,NM_022808.2,NM_022806.2;SNRPN,missense_variant,p.Pro130His,ENST00000400097,NM_022805.2;SNRPN,missense_variant,p.Pro130His,ENST00000390687,;SNRPN,missense_variant,p.Pro130His,ENST00000346403,;SNRPN,missense_variant,p.Pro130His,ENST00000577565,NM_003097.3;SNRPN,missense_variant,p.Pro130His,ENST00000579070,;SNRPN,downstream_gene_variant,,ENST00000584968,;SNORD107,upstream_gene_variant,,ENST00000459433,;SNHG14,upstream_gene_variant,,ENST00000551631,;SNHG14,upstream_gene_variant,,ENST00000551361,;SNRPN,downstream_gene_variant,,ENST00000553597,;SNURF,3_prime_UTR_variant,,ENST00000580062,;RP11-701H24.9,intron_variant,,ENST00000551312,;RP11-701H24.9,intron_variant,,ENST00000557230,;SNHG14,upstream_gene_variant,,ENST00000557108,;	A	ENST00000400100	Transcript	missense_variant	1279/1751	389/723	130/240	P/H	cCt/cAt	COSM470461	1		1	SNRPN	HGNC	HGNC:11164	protein_coding	YES	CCDS10017.1	ENSP00000382972	P63162	X5DP00	UPI000002948A	NM_022807.2,NM_022808.2,NM_022806.2	tolerated(0.08)		10/13		PIRSF_domain:PIRSF037187,hmmpanther:PTHR10701,hmmpanther:PTHR10701:SF1,Superfamily_domains:SSF50182											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	45	24976998	24976998	C	A	1	0	0	0	0	1	0	0	0	15190	681	24	2		2	SNRPN	15	24976998	Missense_Mutation	SNP	C	C3N-00293_TP		24976998	77014191	233	13407											
OCA2	0	.	GRCh38	chr15	27851404	27851404	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcaagcaccgaaggcCagggcatacatgagcggcgg	11	2	15	13	3	0	1	0	1	0	0	0	2	0	1	3	5	3	3	3	5	3	1	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.2316G>T	p.=	p.L772L	ENST00000354638	22/24	573	524	49	533	533	0	strelka-varscan-mutect	OCA2,synonymous_variant,p.=,ENST00000354638,NM_000275.2;OCA2,synonymous_variant,p.=,ENST00000353809,NM_001300984.1;	A	ENST00000354638	Transcript	synonymous_variant	2472/3186	2316/2517	772/838	L	ctG/ctT		1		-1	OCA2	HGNC	HGNC:8101	protein_coding	YES	CCDS10020.1	ENSP00000346659	Q04671		UPI000013D158	NM_000275.2			22/24		hmmpanther:PTHR10283:SF67,hmmpanther:PTHR10283,Pfam_domain:PF03600																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	45	27851404	27851404	C	A	1	0	0	0	0	0	0	0	1	10892	581	21	2		2	OCA2	15	27851404	Silent	SNP	C	C3N-00293_TP	2874406	27851404	74139785	234	13408											
GOLGA8T	0	.	GRCh38	chr15	30143672	30143672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctgagcctcatggctctcCctggggaaggtacgggagac	8	7	15	11	1	2	2	1	1	1	1	3	4	2	3	2	5	3	3	2	5	2	1	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1267C>A	p.Pro423Thr	p.P423T	ENST00000569052	14/19	236	224	12	206	205	1	varscan-mutect	GOLGA8T,missense_variant,p.Pro423Thr,ENST00000569052,;RN7SL469P,upstream_gene_variant,,ENST00000621501,;GOLGA8T,downstream_gene_variant,,ENST00000565649,;	A	ENST00000569052	Transcript	missense_variant	1267/1896	1267/1896	423/631	P/T	Cct/Act		1		1	GOLGA8T	HGNC	HGNC:44410	protein_coding	YES		ENSP00000455826		H3BQL2	UPI000246730F		deleterious(0)		14/19		hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48,Pfam_domain:PF15070																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	45	30143672	30143672	C	A	1	0	0	0	0	1	0	0	0	6458	623	22	2		2	GOLGA8T	15	30143672	Missense_Mutation	SNP	C	C3N-00293_TP	2292268	30143672	71847517	235	13409											
RASGRP1	0	.	GRCh38	chr15	38490674	38490674	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggcatcattatctgctttCagagtatttatttcctaaag	11	16	7	7	0	3	1	2	0	1	1	4	1	4	1	1	1	1	3	1	1	5	7	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.2274G>A	p.=	p.L758L	ENST00000310803	17/17	132	114	18	80	80	0	strelka-mutect	RASGRP1,missense_variant,p.Glu595Lys,ENST00000559830,NM_001306086.1;RASGRP1,missense_variant,p.Glu544Lys,ENST00000558164,;RASGRP1,synonymous_variant,p.=,ENST00000310803,NM_005739.3;RASGRP1,synonymous_variant,p.=,ENST00000539159,;RASGRP1,synonymous_variant,p.=,ENST00000558432,;RASGRP1,synonymous_variant,p.=,ENST00000561180,;RASGRP1,synonymous_variant,p.=,ENST00000450598,NM_001128602.1;FAM98B,downstream_gene_variant,,ENST00000397609,NM_173611.3;RASGRP1,3_prime_UTR_variant,,ENST00000414708,;RASGRP1,downstream_gene_variant,,ENST00000557875,;	T	ENST00000310803	Transcript	synonymous_variant	2452/5023	2274/2394	758/797	L	ctG/ctA		1		-1	RASGRP1	HGNC	HGNC:9878	protein_coding	YES	CCDS45222.1	ENSP00000310244	O95267		UPI000006FE1C	NM_005739.3			17/17		Coiled-coils_(Ncoils):Coil																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	45	38490674	38490674	C	T	1	0	0	0	0	0	0	0	1	13235	835	29	3		3	RASGRP1	15	38490674	Silent	SNP	C	C3N-00293_TP	8347002	38490674	63500515	236	13410											
DUOX2	0	.	GRCh38	chr15	45108063	45108063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacccattcctggtgttctCaaaccagtagcggtcaccat	9	12	7	13	1	2	0	2	0	1	0	4	0	3	0	4	2	3	2	4	2	3	4	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1558G>A	p.Glu520Lys	p.E520K	ENST00000603300	13/34	596	563	33	425	425	0	strelka-varscan-mutect	DUOX2,missense_variant,p.Glu520Lys,ENST00000389039,;DUOX2,missense_variant,p.Glu520Lys,ENST00000603300,NM_014080.4;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;	T	ENST00000603300	Transcript	missense_variant	1761/6345	1558/4647	520/1548	E/K	Gag/Aag		1		-1	DUOX2	HGNC	HGNC:13273	protein_coding	YES	CCDS10117.1	ENSP00000475084	Q9NRD8		UPI000013D775	NM_014080.4	deleterious(0.05)		13/34		Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,Superfamily_domains:SSF48113																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	45108063	45108063	C	T	1	0	0	0	0	1	0	0	0	4623	835	29	3		3	DUOX2	15	45108063	Missense_Mutation	SNP	C	C3N-00293_TP	6617389	45108063	56883126	237	13411											
SEMA6D	0	.	GRCh38	chr15	47768657	47768657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctaaagtgattgatacctgGagacctaaactgacaagctc	14	9	8	10	0	0	4	0	3	0	1	1	5	0	4	3	1	3	1	3	1	6	4	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1842G>T	p.Trp614Cys	p.W614C	ENST00000316364	18/19	161	147	14	114	114	0	strelka-varscan-mutect	SEMA6D,missense_variant,p.Trp614Cys,ENST00000316364,NM_153618.1;SEMA6D,missense_variant,p.Trp614Cys,ENST00000536845,;SEMA6D,missense_variant,p.Trp78Cys,ENST00000560006,;SEMA6D,intron_variant,,ENST00000558014,NM_001198999.1;SEMA6D,intron_variant,,ENST00000354744,NM_153617.1;SEMA6D,intron_variant,,ENST00000358066,NM_020858.1;SEMA6D,intron_variant,,ENST00000355997,NM_153619.1;SEMA6D,intron_variant,,ENST00000389428,NM_153616.1;SEMA6D,intron_variant,,ENST00000558816,;SEMA6D,downstream_gene_variant,,ENST00000389425,NM_024966.2;SEMA6D,downstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000558431,;	T	ENST00000316364	Transcript	missense_variant	2281/6099	1842/3222	614/1073	W/C	tgG/tgT		1		1	SEMA6D	HGNC	HGNC:16770	protein_coding	YES	CCDS32225.1	ENSP00000324857	Q8NFY4		UPI000006E201	NM_153618.1	tolerated(0.23)		18/19		hmmpanther:PTHR11036:SF65,hmmpanther:PTHR11036																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	47768657	47768657	G	T	1	0	0	0	0	1	0	0	0	14318	1183	41	2		2	SEMA6D	15	47768657	Missense_Mutation	SNP	G	C3N-00293_TP	2660594	47768657	54222532	238	13412											
MYO5C	0	.	GRCh38	chr15	52208626	52208626	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaaaaggacagcatttcAaagtcttctaaatgttcctt	14	12	6	9	0	3	0	1	0	2	0	4	1	4	1	2	1	2	2	2	1	5	5	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.4314T>C	p.=	p.F1438F	ENST00000261839	36/41	140	127	13	93	93	0	strelka-varscan-mutect	MYO5C,synonymous_variant,p.=,ENST00000261839,NM_018728.3;RP11-430B1.2,downstream_gene_variant,,ENST00000560518,;RP11-430B1.2,downstream_gene_variant,,ENST00000559779,;MYO5C,3_prime_UTR_variant,,ENST00000560809,;MYO5C,non_coding_transcript_exon_variant,,ENST00000559696,;	G	ENST00000261839	Transcript	synonymous_variant	4476/6971	4314/5229	1438/1742	F	ttT/ttC		1		-1	MYO5C	HGNC	HGNC:7604	protein_coding	YES	CCDS42036.1	ENSP00000261839	Q9NQX4		UPI000013D20E	NM_018728.3			36/41		PROSITE_profiles:PS51126,hmmpanther:PTHR13140:SF313,hmmpanther:PTHR13140																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	45	52208626	52208626	A	G	1	0	0	0	0	0	0	0	1	10081	127	5	5		5	MYO5C	15	52208626	Silent	SNP	A	C3N-00293_TP	4439969	52208626	49782563	239	13413											
WDR72	0	.	GRCh38	chr15	53609531	53609531	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgcacagactggtctctCcaacaggaaattagcttcaa	13	9	7	12	0	2	1	1	0	1	1	4	2	3	2	2	2	3	2	2	2	4	2	rs143816093		C3N-00293_TP	C3N-00293_NB	C	C																c.2934G>T	p.Trp978Cys	p.W978C	ENST00000396328	17/20	496	468	28	271	271	0	strelka-varscan-mutect	WDR72,missense_variant,p.Trp978Cys,ENST00000396328,;WDR72,missense_variant,p.Trp975Cys,ENST00000557913,;WDR72,missense_variant,p.Trp978Cys,ENST00000360509,NM_182758.3;WDR72,missense_variant,p.Trp988Cys,ENST00000559418,;	A	ENST00000396328	Transcript	missense_variant	3174/7507	2934/3309	978/1102	W/C	tgG/tgT	rs143816093,CM097778	1		-1	WDR72	HGNC	HGNC:26790	protein_coding	YES	CCDS10151.1	ENSP00000379619	Q3MJ13		UPI00001D777D		deleterious(0)		17/20												pathogenic							MODERATE	1	SNV	1		1,1	1										PASS		rs143816093	.												A	3	1	45	53609531	53609531	C	A	1	0	0	0	0	1	0	0	0	17878	856	30	2		2	WDR72	15	53609531	Missense_Mutation	SNP	C	C3N-00293_TP	1400905	53609531	48381658	240	13414											
ZNF280D	0	.	GRCh38	chr15	56700982	56700982	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactatctgaagatctagacTcaggatgaaaatttattggt	15	13	8	5	0	3	4	1	2	2	2	3	5	3	5	0	2	1	0	0	2	7	5	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.332A>T	p.Glu111Val	p.E111V	ENST00000267807	6/22	348	326	22	184	184	0	strelka-varscan-mutect	ZNF280D,missense_variant,p.Glu98Val,ENST00000559237,NM_001002843.2;ZNF280D,missense_variant,p.Glu98Val,ENST00000559000,;ZNF280D,missense_variant,p.Glu111Val,ENST00000267807,NM_001288588.1,NM_017661.3;ZNF280D,missense_variant,p.Glu111Val,ENST00000558320,NM_001288589.1,NM_001002844.2;ZNF280D,downstream_gene_variant,,ENST00000559352,;ZNF280D,missense_variant,p.Glu111Val,ENST00000560002,;ZNF280D,missense_variant,p.Glu111Val,ENST00000558002,;	A	ENST00000267807	Transcript	missense_variant	549/4328	332/2940	111/979	E/V	gAg/gTg		1		-1	ZNF280D	HGNC	HGNC:25953	protein_coding	YES	CCDS32245.1	ENSP00000267807	Q6N043		UPI00003FF962	NM_001288588.1,NM_017661.3	tolerated(0.38)		6/22		Pfam_domain:PF13836																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	56700982	56700982	T	A	1	0	0	0	0	1	0	0	0	18393	1551	54	4		4	ZNF280D	15	56700982	Missense_Mutation	SNP	T	C3N-00293_TP	3091451	56700982	45290207	241	13415											
FAM63B	0	.	GRCh38	chr15	58771963	58771963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	attcttttcccagtagctgcGagttcaatagtgaggaggga	10	12	12	7	1	2	1	1	1	1	0	3	4	3	3	1	2	2	3	1	2	3	6	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.568G>C	p.Glu190Gln	p.E190Q	ENST00000559228	1/9	72	63	9	32	32	0	strelka-varscan-mutect	FAM63B,missense_variant,p.Glu190Gln,ENST00000559228,NM_001040450.1;FAM63B,missense_variant,p.Glu190Gln,ENST00000450403,NM_001040453.1;RP11-30K9.6,upstream_gene_variant,,ENST00000500929,;FAM63B,missense_variant,p.Glu190Gln,ENST00000316848,;FAM63B,missense_variant,p.Glu190Gln,ENST00000560289,;	C	ENST00000559228	Transcript	missense_variant	650/9238	568/1866	190/621	E/Q	Gag/Cag		1		1	FAM63B	HGNC	HGNC:26954	protein_coding	YES	CCDS42046.1	ENSP00000452885	Q8NBR6		UPI0000D74C47	NM_001040450.1	tolerated_low_confidence(0.07)		1/9		hmmpanther:PTHR18063,hmmpanther:PTHR18063:SF8																	MODERATE		SNV	2			1										PASS		rs1443009005	.												C	3	2	45	58771963	58771963	G	C	1	0	0	0	0	1	0	0	0	5463	1059	37	4		4	FAM63B	15	58771963	Missense_Mutation	SNP	G	C3N-00293_TP	2070981	58771963	43219226	242	13416											
HERC1	0	.	GRCh38	chr15	63655796	63655796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttagtttggcccctttgtCtgctagcaatgccacaaggg	7	13	10	11	0	2	0	0	0	2	0	2	0	2	0	3	2	3	3	3	2	4	4	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.10030G>A	p.Asp3344Asn	p.D3344N	ENST00000443617	50/78	283	266	17	182	182	0	strelka-varscan-mutect	HERC1,missense_variant,p.Asp3344Asn,ENST00000443617,NM_003922.3;	T	ENST00000443617	Transcript	missense_variant	10118/15137	10030/14586	3344/4861	D/N	Gac/Aac		1		-1	HERC1	HGNC	HGNC:4867	protein_coding	YES	CCDS45277.1	ENSP00000390158	Q15751	A0A024R5W0	UPI0000212760	NM_003922.3	tolerated(0.19)		50/78																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	63655796	63655796	C	T	1	0	0	0	0	1	0	0	0	6941	913	32	3		3	HERC1	15	63655796	Missense_Mutation	SNP	C	C3N-00293_TP	4883833	63655796	38335393	243	13417											
MAP2K1	0	.	GRCh38	chr15	66435113	66435113	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaggcctttcttacccAgaagcagaaggtgggagaac	11	8	12	10	0	1	4	0	1	1	3	1	5	1	4	3	3	3	1	3	3	4	3			C3N-00293_TP	C3N-00293_NB	A	A																c.167A>C	p.Gln56Pro	p.Q56P	ENST00000307102	2/11	672	599	73	512	509	3	strelka-varscan-mutect	MAP2K1,missense_variant,p.Gln56Pro,ENST00000307102,NM_002755.3;MAP2K1,non_coding_transcript_exon_variant,,ENST00000425818,;	C	ENST00000307102	Transcript	missense_variant	698/3410	167/1182	56/393	Q/P	cAg/cCg	COSM1235481	1		1	MAP2K1	HGNC	HGNC:6840	protein_coding	YES	CCDS10216.1	ENSP00000302486	Q02750	A4QPA9	UPI000013EBC9	NM_002755.3	deleterious(0.03)		2/11		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF370											1						MODERATE	1	SNV	1		1	1										PASS		rs1057519729	.												C	3	2	45	66435113	66435113	A	C	1	0	0	0	0	1	0	0	0	9158	188	7	5		5	MAP2K1	15	66435113	Missense_Mutation	SNP	A	C3N-00293_TP	2779317	66435113	35556076	244	13418											
UACA	0	.	GRCh38	chr15	70667996	70667996	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatcttttatttttacaaaTtcctgatttatatcttcaaa	12	22	1	6	0	3	1	1	1	2	0	4	1	4	1	1	0	1	0	1	0	7	11	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.2688A>T	p.Glu896Asp	p.E896D	ENST00000322954	16/19	258	241	17	159	159	0	strelka-varscan-mutect	UACA,missense_variant,p.Glu896Asp,ENST00000322954,NM_018003.2;UACA,missense_variant,p.Glu883Asp,ENST00000379983,NM_001008224.1;UACA,missense_variant,p.Glu881Asp,ENST00000560441,;UACA,missense_variant,p.Glu787Asp,ENST00000539319,;UACA,downstream_gene_variant,,ENST00000558758,;UACA,upstream_gene_variant,,ENST00000560831,;UACA,downstream_gene_variant,,ENST00000559290,;UACA,downstream_gene_variant,,ENST00000560523,;UACA,downstream_gene_variant,,ENST00000558308,;	A	ENST00000322954	Transcript	missense_variant	2874/6939	2688/4251	896/1416	E/D	gaA/gaT		1		-1	UACA	HGNC	HGNC:15947	protein_coding	YES	CCDS10235.1	ENSP00000314556	Q9BZF9		UPI000006DCF3	NM_018003.2	tolerated(0.08)		16/19		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF23																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	70667996	70667996	T	A	1	0	0	0	0	1	0	0	0	17343	1490	52	4		4	UACA	15	70667996	Missense_Mutation	SNP	T	C3N-00293_TP	4232883	70667996	31323193	245	13419											
NTRK3	0	.	GRCh38	chr15	88126342	88126342	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaccaccaacaggacacagGcaaaagcagcaagtccaact	18	2	8	13	0	0	0	0	0	0	0	1	2	1	1	3	2	5	3	3	2	6	0	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1325C>G	p.Ala442Gly	p.A442G	ENST00000360948	13/20	270	251	19	187	187	0	strelka-varscan-mutect	NTRK3,missense_variant,p.Ala442Gly,ENST00000394480,NM_002530.3;NTRK3,missense_variant,p.Ala434Gly,ENST00000558676,;NTRK3,missense_variant,p.Ala442Gly,ENST00000317501,;NTRK3,missense_variant,p.Ala442Gly,ENST00000360948,NM_001012338.2;NTRK3,missense_variant,p.Ala434Gly,ENST00000357724,;NTRK3,missense_variant,p.Ala434Gly,ENST00000355254,NM_001243101.1;NTRK3,missense_variant,p.Ala442Gly,ENST00000626019,;NTRK3,missense_variant,p.Ala442Gly,ENST00000629765,;NTRK3,missense_variant,p.Ala434Gly,ENST00000557856,;NTRK3,missense_variant,p.Ala344Gly,ENST00000542733,NM_001320135.1;NTRK3,missense_variant,p.Ala442Gly,ENST00000540489,NM_001007156.2;NTRK3,missense_variant,p.Ala46Gly,ENST00000560017,;NTRK3,non_coding_transcript_exon_variant,,ENST00000557897,;NTRK3,intron_variant,,ENST00000558306,;	C	ENST00000360948	Transcript	missense_variant	1631/3004	1325/2520	442/839	A/G	gCc/gGc		1		-1	NTRK3	HGNC	HGNC:8033	protein_coding	YES	CCDS32322.1	ENSP00000354207	Q16288	X5D2R1	UPI000006DC82	NM_001012338.2	deleterious(0.04)		13/20		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF66,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	45	88126342	88126342	G	C	1	0	0	0	0	1	0	0	0	10774	1203	42	4		4	NTRK3	15	88126342	Missense_Mutation	SNP	G	C3N-00293_TP	17458346	88126342	13864847	246	13420											
KIF7	0	.	GRCh38	chr15	89646834	89646834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaccctcttctcacctctCccctctgctcagagccaact	6	11	3	21	0	6	1	3	0	4	1	8	1	6	1	5	0	3	1	5	0	1	1	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1784G>T	p.Gly595Val	p.G595V	ENST00000394412	7/19	482	426	56	428	426	2	strelka-varscan-mutect	KIF7,missense_variant,p.Gly595Val,ENST00000394412,NM_198525.2;KIF7,downstream_gene_variant,,ENST00000445906,;	A	ENST00000394412	Transcript	missense_variant	1861/4551	1784/4032	595/1343	G/V	gGa/gTa		1		-1	KIF7	HGNC	HGNC:30497	protein_coding	YES	CCDS32325.2	ENSP00000377934	Q2M1P5		UPI00015F81C7	NM_198525.2	tolerated(0.25)		7/19																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	45	89646834	89646834	C	A	1	0	0	0	0	1	0	0	0	8174	869	30	2		2	KIF7	15	89646834	Missense_Mutation	SNP	C	C3N-00293_TP	1520492	89646834	12344355	247	13421											
FLYWCH1	0	.	GRCh38	chr16	2933476	2933476	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcaggggtccgggtcccctGactctcaccaggcctcggcc	4	6	13	18	3	1	1	1	1	1	0	5	1	3	1	6	5	0	1	6	5	0	0	rs554729936		C3N-00293_TP	C3N-00293_NB	G	G																c.1143G>A	p.=	p.L381L	ENST00000253928	5/10	243	224	19	206	206	0	strelka-varscan-mutect	FLYWCH1,synonymous_variant,p.=,ENST00000253928,NM_001308068.1;FLYWCH1,synonymous_variant,p.=,ENST00000416288,NM_032296.2,NM_020912.1;FLYWCH1,synonymous_variant,p.=,ENST00000344592,;FLYWCH1,synonymous_variant,p.=,ENST00000573564,;FLYWCH1,upstream_gene_variant,,ENST00000575679,;FLYWCH1,downstream_gene_variant,,ENST00000570425,;FLYWCH1,downstream_gene_variant,,ENST00000573525,;FLYWCH1,upstream_gene_variant,,ENST00000571580,;FLYWCH1,upstream_gene_variant,,ENST00000571983,;FLYWCH1,upstream_gene_variant,,ENST00000570752,;FLYWCH1,upstream_gene_variant,,ENST00000575604,;FLYWCH1,upstream_gene_variant,,ENST00000574985,;	A	ENST00000253928	Transcript	synonymous_variant	1548/5037	1143/2151	381/716	L	ctG/ctA	rs554729936	1		1	FLYWCH1	HGNC	HGNC:25404	protein_coding	YES	CCDS76809.1	ENSP00000253928	Q4VC44		UPI000013CE05	NM_001308068.1			5/10		Low_complexity_(Seg):seg,hmmpanther:PTHR31665,hmmpanther:PTHR31665:SF3,Pfam_domain:PF16662																	LOW	1	SNV	1			1										PASS		rs554729936	.												A	2	1	45	2933476	2933476	G	A	1	0	0	0	0	0	0	0	1	5803	1277	45	3		3	FLYWCH1	16	2933476	Silent	SNP	G	C3N-00293_TP		2933476	87404869	248	13422											
GP2	0	.	GRCh38	chr16	20322971	20322971	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacacttgtcctccacagTggatgggtctaggtgatggg	7	11	13	10	0	2	1	1	1	1	0	4	2	4	2	2	4	0	0	2	4	1	2	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.553A>T	p.Thr185Ser	p.T185S	ENST00000381362	5/12	158	143	15	144	144	0	strelka-varscan-mutect	GP2,missense_variant,p.Thr182Ser,ENST00000302555,NM_001502.3;GP2,missense_variant,p.Thr185Ser,ENST00000381362,NM_001007240.2;GP2,missense_variant,p.Thr38Ser,ENST00000381360,NM_001007241.2;GP2,missense_variant,p.Thr35Ser,ENST00000341642,NM_001007242.2;GP2,missense_variant,p.Thr94Ser,ENST00000572347,;GP2,missense_variant,p.Thr35Ser,ENST00000575582,;GP2,missense_variant,p.Thr117Ser,ENST00000572478,;GP2,downstream_gene_variant,,ENST00000575449,;GP2,non_coding_transcript_exon_variant,,ENST00000573897,;GP2,downstream_gene_variant,,ENST00000575730,;GP2,3_prime_UTR_variant,,ENST00000574982,;	A	ENST00000381362	Transcript	missense_variant	630/2425	553/1614	185/537	T/S	Act/Tct		1		-1	GP2	HGNC	HGNC:4441	protein_coding	YES	CCDS42128.1	ENSP00000370767	P55259		UPI000059D333	NM_001007240.2	tolerated(0.82)		5/12		hmmpanther:PTHR24044:SF284,hmmpanther:PTHR24044																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	20322971	20322971	T	A	1	0	0	0	0	1	0	0	0	6477	1696	59	4		4	GP2	16	20322971	Missense_Mutation	SNP	T	C3N-00293_TP	17389495	20322971	70015374	249	13423											
OTOA	0	.	GRCh38	chr16	21687508	21687508	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtttctcatcacactggaGaggtgtttccagatgctgaa	9	13	10	9	0	2	3	2	1	1	2	4	4	3	3	1	2	1	3	1	2	1	2	rs149356133		C3N-00293_TP	C3N-00293_NB	G	G																c.495G>C	p.Glu165Asp	p.E165D	ENST00000388958	7/28	578	520	58	466	466	0	strelka-varscan-mutect	OTOA,missense_variant,p.Glu165Asp,ENST00000388958,NM_144672.3;OTOA,missense_variant,p.Glu165Asp,ENST00000286149,;OTOA,missense_variant,p.Glu86Asp,ENST00000388956,NM_001161683.1;	C	ENST00000388958	Transcript	missense_variant	496/3610	495/3420	165/1139	E/D	gaG/gaC	rs149356133	1		1	OTOA	HGNC	HGNC:16378	protein_coding	YES	CCDS10600.2	ENSP00000373610	Q7RTW8		UPI00005C8607	NM_144672.3	tolerated(0.18)		7/28		hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF18																	MODERATE	1	SNV	1			1										PASS		rs149356133	.												C	3	2	45	21687508	21687508	G	C	1	0	0	0	0	1	0	0	0	11368	933	33	4		4	OTOA	16	21687508	Missense_Mutation	SNP	G	C3N-00293_TP	1364537	21687508	68650837	250	13424											
SLC5A11	0	.	GRCh38	chr16	24908996	24908996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagcgcccggtcctggtgaAgagcattcactacctctact	8	10	10	13	2	2	3	1	2	1	1	3	3	3	3	3	2	4	1	3	2	3	3	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.1550A>G	p.Lys517Arg	p.K517R	ENST00000347898	14/16	492	462	30	407	407	0	strelka-varscan-mutect	SLC5A11,missense_variant,p.Lys517Arg,ENST00000347898,NM_052944.4;SLC5A11,missense_variant,p.Lys482Arg,ENST00000424767,NM_001258411.2;SLC5A11,missense_variant,p.Lys447Arg,ENST00000545376,NM_001258412.2;SLC5A11,missense_variant,p.Lys482Arg,ENST00000567758,;SLC5A11,missense_variant,p.Lys453Arg,ENST00000565769,NM_001258413.2;SLC5A11,missense_variant,p.Lys447Arg,ENST00000568579,;SLC5A11,missense_variant,p.Lys361Arg,ENST00000449109,NM_001258414.1;SLC5A11,missense_variant,p.Lys361Arg,ENST00000569071,;SLC5A11,3_prime_UTR_variant,,ENST00000488922,;	G	ENST00000347898	Transcript	missense_variant	2172/2745	1550/2028	517/675	K/R	aAg/aGg		1		1	SLC5A11	HGNC	HGNC:23091	protein_coding	YES	CCDS10625.1	ENSP00000289932	Q8WWX8		UPI0000036161	NM_052944.4	tolerated(0.38)		14/16		hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF127																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	45	24908996	24908996	A	G	1	0	0	0	0	1	0	0	0	14946	72	3	5		5	SLC5A11	16	24908996	Missense_Mutation	SNP	A	C3N-00293_TP	3221488	24908996	65429349	251	13425											
ITFG1	0	.	GRCh38	chr16	47460856	47460856	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttcccgcagcacgaagaGatccgtctgcttgtcggagt	8	10	11	12	4	1	1	0	0	1	1	4	4	3	2	2	1	2	3	2	1	1	2	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.190C>G	p.Leu64Val	p.L64V	ENST00000320640	1/18	260	241	19	219	219	0	strelka-varscan-mutect	ITFG1,missense_variant,p.Leu64Val,ENST00000320640,NM_030790.4;ITFG1,intron_variant,,ENST00000544001,NM_001305002.1;ITFG1,intron_variant,,ENST00000563730,;PHKB,upstream_gene_variant,,ENST00000299167,;PHKB,upstream_gene_variant,,ENST00000323584,NM_000293.2;PHKB,upstream_gene_variant,,ENST00000566044,NM_001031835.2;ITFG1,upstream_gene_variant,,ENST00000565940,;PHKB,upstream_gene_variant,,ENST00000564873,;PHKB,upstream_gene_variant,,ENST00000566037,;PHKB,upstream_gene_variant,,ENST00000563376,;PHKB,upstream_gene_variant,,ENST00000567200,;PHKB,upstream_gene_variant,,ENST00000567402,;ITFG1,upstream_gene_variant,,ENST00000563350,;PHKB,upstream_gene_variant,,ENST00000566721,;PHKB,upstream_gene_variant,,ENST00000565424,;	C	ENST00000320640	Transcript	missense_variant	419/3400	190/1839	64/612	L/V	Ctc/Gtc		1		-1	ITFG1	HGNC	HGNC:30697	protein_coding	YES	CCDS10728.1	ENSP00000319918	Q8TB96		UPI0000039EB3	NM_030790.4	tolerated(0.42)		1/18		hmmpanther:PTHR13412:SF0,hmmpanther:PTHR13412,Gene3D:3nigC00,Pfam_domain:PF13517,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	47460856	47460856	G	C	1	0	0	0	0	1	0	0	0	7777	942	33	4		4	ITFG1	16	47460856	Missense_Mutation	SNP	G	C3N-00293_TP	22551860	47460856	42877489	252	13426											
PKD1L3	0	.	GRCh38	chr16	71935374	71935374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtcctggtcatcgcGgtatcgtgccatgtttttct	4	16	9	12	3	3	0	2	0	1	0	6	0	4	0	3	2	1	2	3	2	1	3	rs184152519		C3N-00293_TP	C3N-00293_NB	G	G																c.4597C>A	p.Arg1533Ser	p.R1533S	ENST00000620267	26/30	110	95	15	94	94	0	strelka-varscan-mutect	PKD1L3,missense_variant,p.Arg1533Ser,ENST00000620267,NM_181536.1;IST1,downstream_gene_variant,,ENST00000378799,NM_001270975.1;IST1,downstream_gene_variant,,ENST00000535424,NM_001270976.1;IST1,downstream_gene_variant,,ENST00000606369,NM_001270978.1,NM_001270979.1;	T	ENST00000620267	Transcript	missense_variant	4597/5199	4597/5199	1533/1732	R/S	Cgc/Agc	rs184152519	1		-1	PKD1L3	HGNC	HGNC:21716	protein_coding	YES	CCDS73912.1	ENSP00000480090	Q7Z443		UPI00001A36E5	NM_181536.1	tolerated(0.06)		26/30		hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF136,Pfam_domain:PF08016																	MODERATE	1	SNV	1			1										PASS		rs184152519	.												T	3	4	45	71935374	71935374	G	T	1	0	0	0	0	1	0	0	0	12061	1116	39	1		1	PKD1L3	16	71935374	Missense_Mutation	SNP	G	C3N-00293_TP	24474518	71935374	18402971	253	13427											
ZFHX3	0	.	GRCh38	chr16	72889870	72889870	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagcgcacatgctggatGaggttgagcttggccttggt	7	11	16	7	1	0	2	0	2	0	0	0	4	0	4	1	5	3	4	1	5	0	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.3309C>T	p.=	p.L1103L	ENST00000268489	4/10	424	398	26	410	410	0	strelka-varscan-mutect	ZFHX3,synonymous_variant,p.=,ENST00000268489,NM_006885.3;ZFHX3,synonymous_variant,p.=,ENST00000397992,NM_001164766.1;ZFHX3,upstream_gene_variant,,ENST00000563625,;	A	ENST00000268489	Transcript	synonymous_variant	3982/16064	3309/11112	1103/3703	L	ctC/ctT		1		-1	ZFHX3	HGNC	HGNC:777	protein_coding	YES	CCDS10908.1	ENSP00000268489	Q15911		UPI00001AE937	NM_006885.3			4/10		hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208,SMART_domains:SM00451,SMART_domains:SM00355																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	45	72889870	72889870	G	A	1	0	0	0	0	0	0	0	1	18212	1277	45	3		3	ZFHX3	16	72889870	Silent	SNP	G	C3N-00293_TP	954496	72889870	17448475	254	13428											
ZFHX3	0	.	GRCh38	chr16	72950492	72950492	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtacaacttcaggctggcctCgtgcctggagttgaccgtgt	6	11	13	11	2	1	1	1	1	0	0	2	2	1	2	3	3	3	3	3	3	2	3	rs760112688		C3N-00293_TP	C3N-00293_NB	C	C																c.3193G>C	p.Glu1065Gln	p.E1065Q	ENST00000268489	3/10	194	171	23	146	146	0	strelka-varscan-mutect	ZFHX3,missense_variant,p.Glu1065Gln,ENST00000268489,NM_006885.3;ZFHX3,missense_variant,p.Glu151Gln,ENST00000397992,NM_001164766.1;	G	ENST00000268489	Transcript	missense_variant	3866/16064	3193/11112	1065/3703	E/Q	Gag/Cag	rs760112688	1		-1	ZFHX3	HGNC	HGNC:777	protein_coding	YES	CCDS10908.1	ENSP00000268489	Q15911		UPI00001AE937	NM_006885.3	deleterious(0)		3/10		hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208																	MODERATE	1	SNV	1			1										PASS		rs760112688	.												G	3	3	45	72950492	72950492	C	G	1	0	0	0	0	1	0	0	0	18212	893	31	4		4	ZFHX3	16	72950492	Missense_Mutation	SNP	C	C3N-00293_TP	60622	72950492	17387853	255	13429											
OR1G1	0	.	GRCh38	chr17	3127228	3127228	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaggaatgcctccagcatCacaaataacatgaaaaaata	21	6	6	8	0	1	2	1	1	0	1	2	3	2	3	2	1	3	1	2	1	8	2	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.324G>A	p.=	p.V108V	ENST00000328890	1/1	297	274	23	256	256	0	strelka-varscan-mutect	OR1G1,synonymous_variant,p.=,ENST00000328890,NM_003555.1;	T	ENST00000328890	Transcript	synonymous_variant	354/998	324/942	108/313	V	gtG/gtA		1		-1	OR1G1	HGNC	HGNC:8204	protein_coding	YES	CCDS11020.1	ENSP00000331545	P47890	A0A126GW57	UPI0000041B68	NM_003555.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF247,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												T	2	4	45	3127228	3127228	C	T	1	0	0	0	0	0	0	0	1	11035	813	29	3		3	OR1G1	17	3127228	Silent	SNP	C	C3N-00293_TP		3127228	80130213	256	13430											
SLC13A5	0	.	GRCh38	chr17	6703942	6703942	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggtggctgcgcttgtGgcttccatctgctgcaatat	4	13	12	12	2	1	0	0	0	1	0	3	0	2	0	2	3	3	5	2	3	2	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.483C>A	p.=	p.A161A	ENST00000433363	4/12	56	52	4	64	63	1	strelka-mutect	SLC13A5,synonymous_variant,p.=,ENST00000433363,NM_177550.4;SLC13A5,synonymous_variant,p.=,ENST00000293800,NM_001284509.1;SLC13A5,synonymous_variant,p.=,ENST00000381074,NM_001284510.1;SLC13A5,synonymous_variant,p.=,ENST00000573648,NM_001143838.2;SLC13A5,synonymous_variant,p.=,ENST00000572352,;SLC13A5,non_coding_transcript_exon_variant,,ENST00000576323,;SLC13A5,3_prime_UTR_variant,,ENST00000572094,;SLC13A5,non_coding_transcript_exon_variant,,ENST00000574824,;SLC13A5,downstream_gene_variant,,ENST00000575230,;	T	ENST00000433363	Transcript	synonymous_variant	717/3435	483/1707	161/568	A	gcC/gcA		1		-1	SLC13A5	HGNC	HGNC:23089	protein_coding	YES	CCDS11079.1	ENSP00000406220	Q86YT5		UPI000000D834	NM_177550.4			4/12		hmmpanther:PTHR10283:SF82,hmmpanther:PTHR10283,Pfam_domain:PF00939																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	45	6703942	6703942	G	T	1	0	0	0	0	0	0	0	1	14660	1335	47	2		2	SLC13A5	17	6703942	Silent	SNP	G	C3N-00293_TP	3576714	6703942	76553499	257	13431											
DNAH2	0	.	GRCh38	chr17	7788115	7788115	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagccccttcaacgcatgttCgaaaagctcatcaacaagat	14	8	7	12	2	3	1	3	0	0	1	4	3	3	1	2	0	4	3	2	0	5	2			C3N-00293_TP	C3N-00293_NB	C	C																c.6771C>T	p.=	p.F2257F	ENST00000572933	44/86	119	112	7	108	108	0	strelka-mutect	DNAH2,synonymous_variant,p.=,ENST00000572933,NM_020877.3;DNAH2,synonymous_variant,p.=,ENST00000389173,;DNAH2,downstream_gene_variant,,ENST00000574518,;	T	ENST00000572933	Transcript	synonymous_variant	8231/14955	6771/13284	2257/4427	F	ttC/ttT	COSM3890595	1		1	DNAH2	HGNC	HGNC:2948	protein_coding	YES	CCDS32551.1	ENSP00000458355	Q9P225		UPI00005B2F0D	NM_020877.3			44/86		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183											1						LOW	1	SNV	1		1	1										PASS		rs1481450028	.												T	2	4	45	7788115	7788115	C	T	1	0	0	0	0	0	0	0	1	4417	883	31	1		1	DNAH2	17	7788115	Silent	SNP	C	C3N-00293_TP	1084173	7788115	75469326	258	13432											
HES7	0	.	GRCh38	chr17	8123045	8123045	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgacctggtcccgggtccGctccagcagcagcagcctca	7	6	11	17	2	1	1	1	1	0	0	4	1	4	1	5	2	4	4	5	2	0	0	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.124C>A	p.=	p.R42R	ENST00000541682	2/4	614	578	36	655	655	0	strelka-varscan-mutect	HES7,synonymous_variant,p.=,ENST00000541682,NM_001165967.1;HES7,synonymous_variant,p.=,ENST00000317814,NM_032580.3;HES7,synonymous_variant,p.=,ENST00000577735,;ALOXE3,upstream_gene_variant,,ENST00000380149,;ALOXE3,upstream_gene_variant,,ENST00000448843,NM_021628.2;ALOXE3,upstream_gene_variant,,ENST00000318227,NM_001165960.1;	T	ENST00000541682	Transcript	synonymous_variant	124/1674	124/693	42/230	R	Cgg/Agg		1		-1	HES7	HGNC	HGNC:15977	protein_coding	YES	CCDS54085.1	ENSP00000446205	Q9BYE0		UPI0000E59E09	NM_001165967.1			2/4		Low_complexity_(Seg):seg,PROSITE_profiles:PS50888,hmmpanther:PTHR10985:SF84,hmmpanther:PTHR10985,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353,Superfamily_domains:SSF47459																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	45	8123045	8123045	G	T	1	0	0	0	0	0	0	0	1	6955	1086	38	1		1	HES7	17	8123045	Silent	SNP	G	C3N-00293_TP	334930	8123045	75134396	259	13433											
DNAH9	0	.	GRCh38	chr17	11961903	11961903	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagccacatggagaacttaCagaatgccctgtacttcgat	12	9	8	12	1	0	2	0	0	0	2	1	4	0	2	3	1	5	1	3	1	4	3	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.12880C>A	p.Gln4294Lys	p.Q4294K	ENST00000262442	68/69	72	67	5	53	53	0	strelka-mutect	DNAH9,missense_variant,p.Gln4294Lys,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Gln4218Lys,ENST00000454412,;DNAH9,missense_variant,p.Gln606Lys,ENST00000608377,NM_004662.2;RP11-1096G20.5,intron_variant,,ENST00000580270,;DNAH9,non_coding_transcript_exon_variant,,ENST00000396001,;	A	ENST00000262442	Transcript	missense_variant	12948/13750	12880/13461	4294/4486	Q/K	Cag/Aag		1		1	DNAH9	HGNC	HGNC:2953	protein_coding	YES	CCDS11160.1	ENSP00000262442	Q9NYC9		UPI0000141BA2	NM_001372.3	tolerated(0.13)		68/69		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	11961903	11961903	C	A	1	0	0	0	0	1	0	0	0	4423	479	17	2		2	DNAH9	17	11961903	Missense_Mutation	SNP	C	C3N-00293_TP	3838858	11961903	71295538	260	13434											
NF1	0	.	GRCh38	chr17	31258429	31258429	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcaatcctgccattgtctCaccgtatgaagcagggattt	10	13	8	10	1	2	1	2	1	1	0	4	2	3	2	3	1	2	2	3	1	4	4	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.4259C>G	p.Ser1420Ter	p.S1420*	ENST00000358273	32/58	339	322	17	195	195	0	strelka-varscan-mutect	NF1,stop_gained,p.Ser1420Ter,ENST00000358273,NM_001042492.2;NF1,stop_gained,p.Ser1399Ter,ENST00000356175,NM_000267.3;NF1,stop_gained,p.Ser1065Ter,ENST00000456735,;NF1,stop_gained,p.Ser1433Ter,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000466819,;NF1,3_prime_UTR_variant,,ENST00000479614,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,downstream_gene_variant,,ENST00000495910,;	G	ENST00000358273	Transcript	stop_gained	4642/12425	4259/8520	1420/2839	S/*	tCa/tGa		1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2			32/58		Pfam_domain:PF00616,PROSITE_patterns:PS00509,PROSITE_profiles:PS50018,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF90,SMART_domains:SM00323,Superfamily_domains:SSF48350																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	45	31258429	31258429	C	G	1	0	0	0	0	0	1	0	0	10393	838	29	4		4	NF1	17	31258429	Nonsense_Mutation	SNP	C	C3N-00293_TP	19296526	31258429	51999012	261	13435											
KRTAP4-7	0	.	GRCh38	chr17	41084553	41084553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgccccagctgctgccGcccctgctgctgcctgcgtc	1	8	11	21	3	0	0	0	0	0	0	1	0	0	0	7	0	8	4	7	0	0	0	rs746493651		C3N-00293_TP	C3N-00293_NB	G	G																c.347G>T	p.Arg116Leu	p.R116L	ENST00000391417	1/1	177	168	9	119	118	1	varscan-mutect	KRTAP4-7,missense_variant,p.Arg116Leu,ENST00000391417,NM_033061.3;KRTAP4-7,missense_variant,p.Arg116Leu,ENST00000621138,;KRTAP4-7,splice_region_variant,,ENST00000612231,;	T	ENST00000391417	Transcript	missense_variant	404/992	347/468	116/155	R/L	cGc/cTc	rs746493651	1		1	KRTAP4-7	HGNC	HGNC:18898	protein_coding	YES	CCDS45673.1	ENSP00000375236	Q9BYR0		UPI00001B0238	NM_033061.3	tolerated(0.13)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF60,Pfam_domain:PF13885																	MODERATE	1	SNV				1										PASS		rs746493651	.												T	3	4	45	41084553	41084553	G	T	1	0	0	0	0	1	0	0	0	8450	1087	38	1		1	KRTAP4-7	17	41084553	Missense_Mutation	SNP	G	C3N-00293_TP	9826124	41084553	42172888	262	13436											
G6PC	0	.	GRCh38	chr17	42901089	42901089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtgattggagactggctCaacctcgtctttaagtggta	8	13	12	8	1	2	2	1	1	1	1	3	3	2	2	1	3	1	3	1	3	3	4	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.213C>T	p.=	p.L71L	ENST00000253801	1/5	613	551	62	416	416	0	strelka-varscan-mutect	G6PC,synonymous_variant,p.=,ENST00000253801,NM_000151.3;G6PC,synonymous_variant,p.=,ENST00000585489,;G6PC,synonymous_variant,p.=,ENST00000592383,NM_001270397.1;LINC00671,upstream_gene_variant,,ENST00000301683,;LINC00671,upstream_gene_variant,,ENST00000436546,;LINC00671,upstream_gene_variant,,ENST00000417193,;G6PC,non_coding_transcript_exon_variant,,ENST00000588481,;	T	ENST00000253801	Transcript	synonymous_variant	292/3096	213/1074	71/357	L	ctC/ctT		1		1	G6PC	HGNC	HGNC:4056	protein_coding	YES	CCDS11446.1	ENSP00000253801	P35575		UPI000013CDF5	NM_000151.3			1/5		Gene3D:1.20.144.10,Pfam_domain:PF01569,PIRSF_domain:PIRSF000905,hmmpanther:PTHR12591,hmmpanther:PTHR12591:SF3,SMART_domains:SM00014,Superfamily_domains:SSF48317,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	45	42901089	42901089	C	T	1	0	0	0	0	0	0	0	1	6014	813	29	3		3	G6PC	17	42901089	Silent	SNP	C	C3N-00293_TP	1816536	42901089	40356352	263	13437											
NPEPPS	0	.	GRCh38	chr17	47531427	47531427	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccacagcctgggcctcGccgcgatgccggagaagagg	7	4	15	15	4	0	2	0	0	0	2	2	4	1	2	6	3	2	0	6	3	1	0	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.127G>C	p.Ala43Pro	p.A43P	ENST00000322157	1/23	313	281	32	278	278	0	varscan-mutect	NPEPPS,missense_variant,p.Ala43Pro,ENST00000322157,NM_006310.3;NPEPPS,missense_variant,p.Ala39Pro,ENST00000530173,;NPEPPS,missense_variant,p.Ala30Pro,ENST00000525007,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000533573,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000528751,;NPEPPS,intron_variant,,ENST00000525037,;NPEPPS,missense_variant,p.Ala43Pro,ENST00000527298,;NPEPPS,missense_variant,p.Ala39Pro,ENST00000532729,;NPEPPS,missense_variant,p.Ala39Pro,ENST00000526247,;NPEPPS,missense_variant,p.Ala14Pro,ENST00000534691,;	C	ENST00000322157	Transcript	missense_variant	364/4353	127/2760	43/919	A/P	Gcc/Ccc		1		1	NPEPPS	HGNC	HGNC:7900	protein_coding	YES	CCDS45721.1	ENSP00000320324	P55786		UPI0000140D51	NM_006310.3	tolerated(0.1)		1/23		Low_complexity_(Seg):seg,hmmpanther:PTHR11533:SF187,hmmpanther:PTHR11533																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	47531427	47531427	G	C	1	0	0	0	0	1	0	0	0	10623	1087	38	4		4	NPEPPS	17	47531427	Missense_Mutation	SNP	G	C3N-00293_TP	4630338	47531427	35726014	264	13438											
KIF2B	0	.	GRCh38	chr17	53823615	53823615	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacatgatcgaagagtaTcgcaggcacctggacagcag	13	6	12	10	2	0	2	0	1	0	1	2	4	0	3	1	2	2	5	1	2	2	1	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.582T>C	p.=	p.Y194Y	ENST00000268919	1/1	519	479	40	386	386	0	strelka-varscan-mutect	KIF2B,synonymous_variant,p.=,ENST00000268919,NM_032559.4;	C	ENST00000268919	Transcript	synonymous_variant	715/2313	582/2022	194/673	Y	taT/taC		1		1	KIF2B	HGNC	HGNC:29443	protein_coding	YES	CCDS32685.1	ENSP00000268919	Q8N4N8	A0A140VKG5	UPI000013D7E6	NM_032559.4			1/1		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF524,Superfamily_domains:SSF52540																	LOW	1	SNV				1										PASS		.	.												C	2	2	45	53823615	53823615	T	C	1	0	0	0	0	0	0	0	1	8163	1442	50	5		5	KIF2B	17	53823615	Silent	SNP	T	C3N-00293_TP	6292188	53823615	29433826	265	13439											
SCN4A	0	.	GRCh38	chr17	63941012	63941012	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccccgctgccgtcgtggCtgtggcggtacatgtaggat	5	10	14	12	4	0	0	0	0	0	0	2	1	1	1	3	4	2	4	3	4	2	2	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.5270G>C	p.Ser1757Thr	p.S1757T	ENST00000435607	24/24	176	162	14	150	150	0	strelka-varscan-mutect	SCN4A,missense_variant,p.Ser1757Thr,ENST00000435607,NM_000334.4;SCN4A,missense_variant,p.Ser1757Thr,ENST00000578147,;	G	ENST00000435607	Transcript	missense_variant	5347/7805	5270/5511	1757/1836	S/T	aGc/aCc		1		-1	SCN4A	HGNC	HGNC:10591	protein_coding	YES	CCDS45761.1	ENSP00000396320	P35499		UPI0000201254	NM_000334.4	tolerated_low_confidence(0.35)		24/24		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF223																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	45	63941012	63941012	C	G	1	0	0	0	0	1	0	0	0	14189	797	28	4		4	SCN4A	17	63941012	Missense_Mutation	SNP	C	C3N-00293_TP	10117397	63941012	19316429	266	13440											
ABCA5	0	.	GRCh38	chr17	69313265	69313265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctaattaatattaacCaaaataaaaaaaatagtgga	22	11	4	4	0	1	0	1	0	0	0	1	1	1	1	1	1	2	1	1	1	11	6	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.134G>T	p.Trp45Leu	p.W45L	ENST00000392676	3/39	99	92	7	61	61	0	varscan-mutect	ABCA5,missense_variant,p.Trp45Leu,ENST00000392676,NM_172232.3;ABCA5,missense_variant,p.Trp45Leu,ENST00000588877,NM_018672.4;ABCA5,missense_variant,p.Trp45Leu,ENST00000593153,;ABCA5,missense_variant,p.Trp45Leu,ENST00000592568,;ABCA5,upstream_gene_variant,,ENST00000589975,;ABCA5,downstream_gene_variant,,ENST00000588665,;ABCA5,downstream_gene_variant,,ENST00000589609,;ABCA5,missense_variant,p.Trp45Leu,ENST00000593253,;ABCA5,missense_variant,p.Trp45Leu,ENST00000587607,;	A	ENST00000392676	Transcript	missense_variant	199/8220	134/4929	45/1642	W/L	tGg/tTg		1		-1	ABCA5	HGNC	HGNC:35	protein_coding	YES	CCDS11685.1	ENSP00000376443	Q8WWZ7		UPI000013DD9E	NM_172232.3	tolerated(1)		3/39		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR19229:SF100,hmmpanther:PTHR19229,Pfam_domain:PF12698																	MODERATE	1	SNV	1			1										PASS		rs1418580493	.												A	3	1	45	69313265	69313265	C	A	1	0	0	0	0	1	0	0	0	39	595	21	2		2	ABCA5	17	69313265	Missense_Mutation	SNP	C	C3N-00293_TP	5372253	69313265	13944176	267	13441											
MAP2K6	0	.	GRCh38	chr17	69523539	69523539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagccttctaatgtactcatCaatgctctcggtcaagtgaa	12	12	7	10	1	5	1	3	1	2	0	6	1	5	1	1	1	3	2	1	1	6	3	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.561C>G	p.Ile187Met	p.I187M	ENST00000590474	8/12	300	285	15	165	165	0	strelka-varscan-mutect	MAP2K6,missense_variant,p.Ile187Met,ENST00000590474,NM_002758.3;MAP2K6,missense_variant,p.Ile131Met,ENST00000589647,;MAP2K6,missense_variant,p.Ile131Met,ENST00000613873,;MAP2K6,downstream_gene_variant,,ENST00000589295,;MAP2K6,downstream_gene_variant,,ENST00000588110,;MAP2K6,3_prime_UTR_variant,,ENST00000359094,;MAP2K6,downstream_gene_variant,,ENST00000591445,;MAP2K6,downstream_gene_variant,,ENST00000586641,;	G	ENST00000590474	Transcript	missense_variant	848/2870	561/1005	187/334	I/M	atC/atG		1		1	MAP2K6	HGNC	HGNC:6846	protein_coding	YES	CCDS11686.1	ENSP00000468348	P52564	A8K3Y2	UPI000012F492	NM_002758.3	tolerated(0.08)		8/12		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000654,PROSITE_patterns:PS00108,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF40,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	45	69523539	69523539	C	G	1	0	0	0	0	1	0	0	0	9163	816	29	4		4	MAP2K6	17	69523539	Missense_Mutation	SNP	C	C3N-00293_TP	210274	69523539	13733902	268	13442											
SLC9A3R1	0	.	GRCh38	chr17	74762092	74762092	+	Frame_Shift_Del	DEL	G	G	-																															ctgcacagcgacaagtccaaGccaggccagttcatccggtc																								novel		C3N-00293_TP	C3N-00293_NB	G	G																c.522delG	p.Lys174AsnfsTer29	p.K174Nfs*29	ENST00000262613	2/6	450	394	56	387	387	0	sindel-varindel-pindel	SLC9A3R1,frameshift_variant,p.Lys174AsnfsTer29,ENST00000262613,NM_004252.4;SLC9A3R1,frameshift_variant,p.Lys18AsnfsTer29,ENST00000413388,;SLC9A3R1,intron_variant,,ENST00000583369,;SLC9A3R1,upstream_gene_variant,,ENST00000578958,;SLC9A3R1,upstream_gene_variant,,ENST00000581356,;	-	ENST00000262613	Transcript	frameshift_variant	717/1969	522/1077	174/358	K/X	aaG/aa		1		1	SLC9A3R1	HGNC	HGNC:11075	protein_coding	YES	CCDS11705.1	ENSP00000262613	O14745		UPI0000072521	NM_004252.4			2/6		Gene3D:2.30.42.10,Pfam_domain:PF00595,PIRSF_domain:PIRSF037866,PROSITE_profiles:PS50106,hmmpanther:PTHR14191,hmmpanther:PTHR14191:SF7,SMART_domains:SM00228,Superfamily_domains:SSF50156																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	45	74762092	74762092	G	-	1	0	1	0	1	0	0	0	0	14996	962	34	0		0	SLC9A3R1	17	74762092	Frame_Shift_Del	DEL	G	C3N-00293_TP	5238553	74762092	8495349	269	13443											
SMCHD1	0	.	GRCh38	chr18	2697961	2697961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctcatgttgaaggagatgGtgtagtggaagggattatcc	11	11	15	4	0	1	2	1	1	0	1	2	5	2	4	1	4	1	3	1	4	4	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1262G>T	p.Gly421Val	p.G421V	ENST00000320876	10/48	423	384	39	192	192	0	strelka-varscan-mutect	SMCHD1,missense_variant,p.Gly421Val,ENST00000320876,NM_015295.2;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,upstream_gene_variant,,ENST00000577880,;SMCHD1,upstream_gene_variant,,ENST00000585229,;SMCHD1,downstream_gene_variant,,ENST00000581226,;	T	ENST00000320876	Transcript	missense_variant	1600/8821	1262/6018	421/2005	G/V	gGt/gTt		1		1	SMCHD1	HGNC	HGNC:29090	protein_coding	YES	CCDS45822.1	ENSP00000326603	A6NHR9		UPI00001D7AAD	NM_015295.2	deleterious(0)		10/48		hmmpanther:PTHR22640,hmmpanther:PTHR22640:SF2																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	45	2697961	2697961	G	T	1	0	0	0	0	1	0	0	0	15081	1261	44	2		2	SMCHD1	18	2697961	Missense_Mutation	SNP	G	C3N-00293_TP		2697961	77675324	270	13444											
PIEZO2	0	.	GRCh38	chr18	10696470	10696470	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtacatacacgtcagtCacggcgctatactccgggtg	10	9	11	11	4	2	1	2	1	0	0	3	1	3	1	1	2	3	2	1	2	4	4	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.6558G>T	p.=	p.V2186V	ENST00000503781	42/52	291	276	15	273	273	0	strelka-mutect	PIEZO2,synonymous_variant,p.=,ENST00000383408,;PIEZO2,synonymous_variant,p.=,ENST00000302079,;PIEZO2,synonymous_variant,p.=,ENST00000580640,;PIEZO2,synonymous_variant,p.=,ENST00000503781,NM_022068.3;PIEZO2,synonymous_variant,p.=,ENST00000538948,;PIEZO2,3_prime_UTR_variant,,ENST00000582913,;	A	ENST00000503781	Transcript	synonymous_variant	6558/8259	6558/8259	2186/2752	V	gtG/gtT		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3			42/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	45	10696470	10696470	C	A	1	0	0	0	0	0	0	0	1	11975	813	29	2		2	PIEZO2	18	10696470	Silent	SNP	C	C3N-00293_TP	7998509	10696470	69676815	271	13445											
ANKRD30B	0	.	GRCh38	chr18	14828302	14828302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagttctgtagagtccaCattcaggtaagactttgcgg	9	13	12	7	1	2	3	1	1	1	2	3	3	3	3	1	2	1	3	1	2	2	5	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.2411C>T	p.Thr804Ile	p.T804I	ENST00000358984	27/36	82	69	13	49	49	0	strelka-varscan-mutect	ANKRD30B,missense_variant,p.Thr804Ile,ENST00000358984,NM_001145029.1;MIR3156-2,upstream_gene_variant,,ENST00000581101,;RP11-1157N2__B.2,upstream_gene_variant,,ENST00000581117,;	T	ENST00000358984	Transcript	missense_variant	2591/4359	2411/4179	804/1392	T/I	aCa/aTa		1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1	tolerated(0.2)		27/36		hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	14828302	14828302	C	T	1	0	0	0	0	1	0	0	0	762	478	17	3		3	ANKRD30B	18	14828302	Missense_Mutation	SNP	C	C3N-00293_TP	4131832	14828302	65544983	272	13446											
MIB1	0	.	GRCh38	chr18	21849285	21849285	+	Frame_Shift_Del	DEL	A	A	-																															gtgctcagatatgaagagagAtactctttttggtccatgtg																								novel		C3N-00293_TP	C3N-00293_NB	A	A																c.2483delA	p.Asp828ValfsTer66	p.D828Vfs*66	ENST00000261537	17/21	184	164	20	98	98	0	sindel-varindel-pindel	MIB1,frameshift_variant,p.Asp828ValfsTer66,ENST00000261537,NM_020774.3;MIB1,non_coding_transcript_exon_variant,,ENST00000578646,;	-	ENST00000261537	Transcript	frameshift_variant	2747/9576	2483/3021	828/1006	D/X	gAt/gt		1		1	MIB1	HGNC	HGNC:21086	protein_coding	YES	CCDS11871.1	ENSP00000261537	Q86YT6		UPI000000D833	NM_020774.3			17/21		Gene3D:3.30.40.10,Pfam_domain:PF13920,PROSITE_profiles:PS50089,hmmpanther:PTHR24202,SMART_domains:SM00184																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	45	21849285	21849285	A	-	1	0	1	0	1	0	0	0	0	9523	333	12	0		0	MIB1	18	21849285	Frame_Shift_Del	DEL	A	C3N-00293_TP	7020983	21849285	58524000	273	13447											
KCTD1	0	.	GRCh38	chr18	26501183	26501183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttgtgctggagtagggatgCcttggttgttcagtggagat	6	14	17	4	0	1	1	1	0	0	1	1	4	1	3	1	4	2	5	1	4	1	5			C3N-00293_TP	C3N-00293_NB	C	C																c.53G>T	p.Gly18Val	p.G18V	ENST00000408011	2/5	174	152	22	171	171	0	strelka-varscan-mutect	KCTD1,missense_variant,p.Gly18Val,ENST00000408011,NM_001136205.2;KCTD1,missense_variant,p.Gly18Val,ENST00000579973,NM_198991.3;KCTD1,missense_variant,p.Gly18Val,ENST00000317932,;KCTD1,missense_variant,p.Gly18Val,ENST00000417602,NM_001258221.1;KCTD1,missense_variant,p.Gly18Val,ENST00000580059,;KCTD1,missense_variant,p.Gly26Val,ENST00000580191,NM_001258222.1;KCTD1,missense_variant,p.Gly18Val,ENST00000580638,;KCTD1,missense_variant,p.Gly18Val,ENST00000578973,;	A	ENST00000408011	Transcript	missense_variant	613/2103	53/774	18/257	G/V	gGc/gTc	COSM1388162,COSM1388163	1		-1	KCTD1	HGNC	HGNC:18249	protein_coding	YES	CCDS11888.1	ENSP00000384367	Q719H9	A0A024RC45	UPI00001CDFF1	NM_001136205.2	deleterious(0)		2/5		hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF65											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	45	26501183	26501183	C	A	1	0	0	0	0	1	0	0	0	8013	739	26	2		2	KCTD1	18	26501183	Missense_Mutation	SNP	C	C3N-00293_TP	4651898	26501183	53872102	274	13448											
MEP1B	0	.	GRCh38	chr18	32215212	32215212	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccacgaaaggctgaaaagCagagattttataaaaggaga	19	6	10	6	1	0	3	0	1	0	2	0	6	0	3	1	2	1	2	1	2	6	3	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1710C>A	p.Ser570Arg	p.S570R	ENST00000269202	12/15	184	163	21	104	104	0	strelka-varscan-mutect	MEP1B,missense_variant,p.Ser570Arg,ENST00000269202,NM_005925.2;MEP1B,missense_variant,p.Ser570Arg,ENST00000581447,NM_001308171.1;GAREM1,intron_variant,,ENST00000583696,;	A	ENST00000269202	Transcript	missense_variant	1757/2312	1710/2106	570/701	S/R	agC/agA		1		1	MEP1B	HGNC	HGNC:7020	protein_coding	YES	CCDS45846.1	ENSP00000269202	Q16820		UPI0000201B8B	NM_005925.2	tolerated(0.82)		12/15		Gene3D:2.60.210.10,PIRSF_domain:PIRSF001196,PROSITE_profiles:PS50144,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF312,Superfamily_domains:SSF49599																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	32215212	32215212	C	A	1	0	0	0	0	1	0	0	0	9421	709	25	2		2	MEP1B	18	32215212	Missense_Mutation	SNP	C	C3N-00293_TP	5714029	32215212	48158073	275	13449											
SERPINB11	0	.	GRCh38	chr18	63723285	63723285	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactggggacagcatcgcTgtaaaaagcctaccaatgag	13	6	11	11	1	0	1	0	1	0	0	1	2	0	2	3	2	3	3	3	2	5	2	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.804T>A	p.=	p.A268A	ENST00000623262	5/5	223	204	19	220	220	0	strelka-varscan-mutect	SERPINB11,synonymous_variant,p.=,ENST00000382749,NM_080475.3;SERPINB11,synonymous_variant,p.=,ENST00000544088,;SERPINB11,synonymous_variant,p.=,ENST00000623262,NM_001291278.1;SERPINB11,synonymous_variant,p.=,ENST00000624518,;SERPINB11,downstream_gene_variant,,ENST00000489748,;SERPINB11,intron_variant,,ENST00000467649,;SERPINB11,3_prime_UTR_variant,,ENST00000536691,;SERPINB11,downstream_gene_variant,,ENST00000610304,;	A	ENST00000623262	Transcript	synonymous_variant	804/918	804/918	268/305	A	gcT/gcA		1		1	SERPINB11	HGNC	HGNC:14221	protein_coding	YES	CCDS77196.1	ENSP00000485532		A0A096LPD5	UPI0003EAEE70	NM_001291278.1			5/5		hmmpanther:PTHR11461:SF199,hmmpanther:PTHR11461,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	45	63723285	63723285	T	A	1	0	0	0	0	0	0	0	1	14374	1567	55	4		4	SERPINB11	18	63723285	Silent	SNP	T	C3N-00293_TP	31508073	63723285	16650000	276	13450											
NETO1	0	.	GRCh38	chr18	72864831	72864831	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgatgtagatgcattccCggtcagggggatacttgctg	8	12	13	8	1	1	2	1	1	0	1	2	3	2	3	1	3	3	3	1	3	3	5	rs780552539		C3N-00293_TP	C3N-00293_NB	C	C																c.197G>T	p.Arg66Leu	p.R66L	ENST00000327305	3/11	373	347	26	265	265	0	strelka-varscan-mutect	NETO1,missense_variant,p.Arg66Leu,ENST00000327305,NM_138966.3;NETO1,missense_variant,p.Arg66Leu,ENST00000583169,NM_001201465.1;NETO1,missense_variant,p.Arg65Leu,ENST00000397929,NM_138999.1;NETO1,missense_variant,p.Arg62Leu,ENST00000579169,;RP11-676J15.1,upstream_gene_variant,,ENST00000578967,;RP11-676J15.1,upstream_gene_variant,,ENST00000580564,;NETO1,non_coding_transcript_exon_variant,,ENST00000579730,;NETO1,downstream_gene_variant,,ENST00000577184,;	A	ENST00000327305	Transcript	missense_variant	855/3058	197/1602	66/533	R/L	cGg/cTg	rs780552539	1		-1	NETO1	HGNC	HGNC:13823	protein_coding	YES	CCDS12000.1	ENSP00000313088	Q8TDF5	A0A024R375	UPI000013E59E	NM_138966.3	tolerated(0.12)		3/11		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF315,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		rs780552539	.												A	3	1	45	72864831	72864831	C	A	1	0	0	0	0	1	0	0	0	10374	652	23	1		1	NETO1	18	72864831	Missense_Mutation	SNP	C	C3N-00293_TP	9141546	72864831	7508454	277	13451											
TBXA2R	0	.	GRCh38	chr19	3600555	3600555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaggcggcgaaccagggcGaggcgatcagccgtctctcc	8	4	16	13	5	2	0	1	0	1	0	4	4	3	1	3	5	2	0	3	5	1	0			C3N-00293_TP	C3N-00293_NB	G	G																c.80C>T	p.Ser27Leu	p.S27L	ENST00000411851	2/4	226	200	26	124	124	0	strelka-varscan-mutect	TBXA2R,missense_variant,p.Ser27Leu,ENST00000375190,NM_001060.5;TBXA2R,missense_variant,p.Ser27Leu,ENST00000589966,;TBXA2R,missense_variant,p.Ser27Leu,ENST00000411851,NM_201636.2;TBXA2R,upstream_gene_variant,,ENST00000587717,;	A	ENST00000411851	Transcript	missense_variant	294/1494	80/1224	27/407	S/L	tCg/tTg	COSM5246956,COSM5246957	1		-1	TBXA2R	HGNC	HGNC:11608	protein_coding	YES	CCDS54198.1	ENSP00000393333	P21731		UPI00000711C4	NM_201636.2	deleterious(0)		2/4		Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR00429,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF5,Superfamily_domains:SSF81321											1,1						MODERATE	1	SNV	2		1,1	1										PASS		rs1162093744	.												A	3	1	45	3600555	3600555	G	A	1	0	0	0	0	1	0	0	0	16067	1059	37	1		1	TBXA2R	19	3600555	Missense_Mutation	SNP	G	C3N-00293_TP		3600555	55017061	278	13452											
CACTIN	0	.	GRCh38	chr19	3623790	3623790	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcccatcttctcccgcttCttgcgctccttggcctcctt	2	14	6	19	2	3	0	0	0	3	0	6	0	5	0	5	1	2	2	5	1	0	5	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.540G>C	p.Lys180Asn	p.K180N	ENST00000429344	2/10	457	424	33	372	372	0	strelka-varscan-mutect	CACTIN,missense_variant,p.Lys180Asn,ENST00000429344,NM_001080543.1;CACTIN,missense_variant,p.Lys180Asn,ENST00000221899,;CACTIN,missense_variant,p.Lys180Asn,ENST00000248420,NM_021231.1;CACTIN,upstream_gene_variant,,ENST00000588749,;CACTIN,missense_variant,p.Lys180Asn,ENST00000585942,;CACTIN,upstream_gene_variant,,ENST00000587175,;CACTIN,upstream_gene_variant,,ENST00000589321,;	G	ENST00000429344	Transcript	missense_variant	593/3612	540/2277	180/758	K/N	aaG/aaC		1		-1	CACTIN	HGNC	HGNC:29938	protein_coding	YES	CCDS45920.1	ENSP00000415078	Q8WUQ7		UPI00006C1962	NM_001080543.1	deleterious(0)		2/10		hmmpanther:PTHR21737,hmmpanther:PTHR21737:SF6,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	45	3623790	3623790	C	G	1	0	0	0	0	1	0	0	0	2252	912	32	4		4	CACTIN	19	3623790	Missense_Mutation	SNP	C	C3N-00293_TP	23235	3623790	54993826	279	13453											
KEAP1	0	.	GRCh38	chr19	10499684	10499684	+	Missense_Mutation	SNP	T	T	A																															acaccacctccatgccctgcTcccgcagcccgttggtgaac																								novel		C3N-00293_TP	C3N-00293_NB	T	T																c.350A>T	p.Glu117Val	p.E117V	ENST00000171111	2/6	332	312	20	241	241	0	strelka-varscan-mutect	KEAP1,missense_variant,p.Glu117Val,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Glu117Val,ENST00000393623,NM_012289.3;KEAP1,missense_variant,p.Glu117Val,ENST00000591419,;KEAP1,missense_variant,p.Glu117Val,ENST00000592055,;KEAP1,missense_variant,p.Glu117Val,ENST00000591039,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000585845,;	A	ENST00000171111	Transcript	missense_variant	898/2955	350/1875	117/624	E/V	gAg/gTg		1		-1	KEAP1	HGNC	HGNC:23177	protein_coding	YES	CCDS12239.1	ENSP00000171111	Q14145	A0A024R7C0	UPI000007139C	NM_203500.1	deleterious(0)		2/6		PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF00651,Gene3D:3.30.710.10,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	10499684	10499684	T	A	1	0	0	0	0	1	0	0	0	8061	1551	54	4		4	KEAP1	19	10499684	Missense_Mutation	SNP	T	C3N-00293_TP	6875894	10499684	48117932	280	13454	310	2									
KEAP1	0	.	GRCh38	chr19	10499687	10499687	+	Missense_Mutation	SNP	C	C	G																															ccacctccatgccctgctccCgcagcccgttggtgaacatg																										C3N-00293_TP	C3N-00293_NB	C	C																c.347G>C	p.Arg116Pro	p.R116P	ENST00000171111	2/6	331	310	21	244	244	0	strelka-varscan-mutect	KEAP1,missense_variant,p.Arg116Pro,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Arg116Pro,ENST00000393623,NM_012289.3;KEAP1,missense_variant,p.Arg116Pro,ENST00000591419,;KEAP1,missense_variant,p.Arg116Pro,ENST00000592055,;KEAP1,missense_variant,p.Arg116Pro,ENST00000591039,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000585845,;	G	ENST00000171111	Transcript	missense_variant	895/2955	347/1875	116/624	R/P	cGg/cCg	COSM3796565	1		-1	KEAP1	HGNC	HGNC:23177	protein_coding	YES	CCDS12239.1	ENSP00000171111	Q14145	A0A024R7C0	UPI000007139C	NM_203500.1	deleterious(0)		2/6		PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF00651,Gene3D:3.30.710.10,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695											1						MODERATE	1	SNV	1		1	1										PASS		rs1290253160	.												G	3	3	45	10499687	10499687	C	G	1	0	0	0	0	1	0	0	0	8061	652	23	4		4	KEAP1	19	10499687	Missense_Mutation	SNP	C	C3N-00293_TP	3	10499687	48117929	281	13455	310	2									
OCEL1	0	.	GRCh38	chr19	17226276	17226276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggacggaagtgcctctcCgacagcagatccaggctcgg	8	5	13	15	4	1	1	0	0	1	1	4	4	2	3	4	4	2	2	4	4	1	0	rs201983831		C3N-00293_TP	C3N-00293_NB	C	C																c.29C>T	p.Pro10Leu	p.P10L	ENST00000215061	1/6	519	440	79	414	414	0	strelka-varscan-mutect	OCEL1,missense_variant,p.Pro10Leu,ENST00000215061,NM_024578.2;OCEL1,missense_variant,p.Pro10Leu,ENST00000601529,;OCEL1,missense_variant,p.Pro9Leu,ENST00000600232,;OCEL1,upstream_gene_variant,,ENST00000598068,;OCEL1,upstream_gene_variant,,ENST00000597836,;OCEL1,upstream_gene_variant,,ENST00000595573,;OCEL1,upstream_gene_variant,,ENST00000600826,;OCEL1,non_coding_transcript_exon_variant,,ENST00000601576,;OCEL1,non_coding_transcript_exon_variant,,ENST00000602236,;OCEL1,non_coding_transcript_exon_variant,,ENST00000599588,;OCEL1,non_coding_transcript_exon_variant,,ENST00000594283,;OCEL1,upstream_gene_variant,,ENST00000596279,;OCEL1,upstream_gene_variant,,ENST00000598172,;OCEL1,upstream_gene_variant,,ENST00000595769,;OCEL1,upstream_gene_variant,,ENST00000599286,;	T	ENST00000215061	Transcript	missense_variant	73/1133	29/795	10/264	P/L	cCg/cTg	rs201983831,COSM400199	1		1	OCEL1	HGNC	HGNC:26221	protein_coding	YES	CCDS12351.1	ENSP00000215061	Q9H607		UPI000006D43F	NM_024578.2	tolerated_low_confidence(0.44)		1/6		hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF15											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201983831	.												T	3	4	45	17226276	17226276	C	T	1	0	0	0	0	1	0	0	0	10893	652	23	1		1	OCEL1	19	17226276	Missense_Mutation	SNP	C	C3N-00293_TP	6726589	17226276	41391340	282	13456											
MAP1S	0	.	GRCh38	chr19	17725965	17725965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctccggctccagctgcGgctgaaccccccggcgcagc	4	4	14	19	5	0	1	0	1	0	0	2	1	2	1	5	4	4	5	5	4	1	0	rs747950013		C3N-00293_TP	C3N-00293_NB	G	G																c.581G>T	p.Arg194Leu	p.R194L	ENST00000324096	5/7	183	168	15	124	124	0	strelka-varscan-mutect	MAP1S,missense_variant,p.Arg194Leu,ENST00000324096,NM_018174.4;MAP1S,missense_variant,p.Arg168Leu,ENST00000544059,NM_001308363.1;MAP1S,missense_variant,p.Arg160Leu,ENST00000600186,;MAP1S,intron_variant,,ENST00000597735,;MAP1S,downstream_gene_variant,,ENST00000594625,;MAP1S,upstream_gene_variant,,ENST00000597000,;CTD-3149D2.4,downstream_gene_variant,,ENST00000595363,;MAP1S,non_coding_transcript_exon_variant,,ENST00000599494,;MAP1S,non_coding_transcript_exon_variant,,ENST00000598916,;MAP1S,intron_variant,,ENST00000597681,;MAP1S,downstream_gene_variant,,ENST00000601544,;MAP1S,upstream_gene_variant,,ENST00000598756,;MAP1S,downstream_gene_variant,,ENST00000594340,;MAP1S,downstream_gene_variant,,ENST00000595338,;MAP1S,downstream_gene_variant,,ENST00000597067,;MAP1S,3_prime_UTR_variant,,ENST00000594212,;MAP1S,3_prime_UTR_variant,,ENST00000594365,;MAP1S,non_coding_transcript_exon_variant,,ENST00000598769,;MAP1S,downstream_gene_variant,,ENST00000596637,;MAP1S,downstream_gene_variant,,ENST00000593593,;MAP1S,downstream_gene_variant,,ENST00000600608,;	T	ENST00000324096	Transcript	missense_variant	732/3419	581/3180	194/1059	R/L	cGg/cTg	rs747950013	1		1	MAP1S	HGNC	HGNC:15715	protein_coding	YES	CCDS32954.1	ENSP00000325313	Q66K74		UPI00002036F9	NM_018174.4	deleterious(0.04)		5/7		Low_complexity_(Seg):seg,hmmpanther:PTHR13843																	MODERATE	1	SNV	1			1										PASS		rs747950013	.												T	3	4	45	17725965	17725965	G	T	1	0	0	0	0	1	0	0	0	9156	1116	39	1		1	MAP1S	19	17725965	Missense_Mutation	SNP	G	C3N-00293_TP	499689	17725965	40891651	283	13457											
CILP2	0	.	GRCh38	chr19	19543301	19543301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgggtacggggcccaccTggagctgcggggactgcgcc	5	6	17	13	3	1	0	1	0	0	0	1	2	1	2	3	6	4	2	3	6	1	1	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.1031T>C	p.Leu344Pro	p.L344P	ENST00000291495	7/8	252	225	27	179	179	0	strelka-varscan-mutect	CILP2,missense_variant,p.Leu350Pro,ENST00000586018,;CILP2,missense_variant,p.Leu344Pro,ENST00000291495,NM_153221.2;CILP2,downstream_gene_variant,,ENST00000588333,;	C	ENST00000291495	Transcript	missense_variant	1116/4199	1031/3471	344/1156	L/P	cTg/cCg		1		1	CILP2	HGNC	HGNC:24213	protein_coding	YES	CCDS12405.1	ENSP00000291495	Q8IUL8		UPI000013E04D	NM_153221.2	deleterious(0)		7/8		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF0,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	19543301	19543301	T	C	1	0	0	0	0	1	0	0	0	3192	1580	55	5		5	CILP2	19	19543301	Missense_Mutation	SNP	T	C3N-00293_TP	1817336	19543301	39074315	284	13458											
ZNF429	0	.	GRCh38	chr19	21537319	21537319	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaaattcatactggagaGaaaccctacaattgtgaaga	19	8	8	6	0	1	4	1	1	0	3	1	6	1	5	1	1	3	0	1	1	8	4			C3N-00293_TP	C3N-00293_NB	G	G																c.1266G>A	p.=	p.E422E	ENST00000358491	4/4	218	198	20	104	104	0	strelka-varscan-mutect	ZNF429,synonymous_variant,p.=,ENST00000358491,NM_001001415.2;ZNF429,synonymous_variant,p.=,ENST00000618549,;ZNF429,intron_variant,,ENST00000597078,;ZNF429,upstream_gene_variant,,ENST00000594385,;ZNF429,downstream_gene_variant,,ENST00000594022,;	A	ENST00000358491	Transcript	synonymous_variant	1474/2233	1266/2025	422/674	E	gaG/gaA	COSM4524342	1		1	ZNF429	HGNC	HGNC:20817	protein_coding	YES	CCDS42537.1	ENSP00000351280	Q86V71		UPI000022ABC2	NM_001001415.2			4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF367,Superfamily_domains:SSF57667											1						LOW	1	SNV	3		1	1										PASS		.	.												A	2	1	45	21537319	21537319	G	A	1	0	0	0	0	0	0	0	1	18474	933	33	3		3	ZNF429	19	21537319	Silent	SNP	G	C3N-00293_TP	1994018	21537319	37080297	285	13459											
ZNF100	0	.	GRCh38	chr19	21745018	21745018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcactgtccaggcattgcCactcctccagagagaattct	10	9	9	13	0	1	2	0	0	1	2	4	4	4	2	4	1	2	2	4	1	1	2	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.146G>T	p.Trp49Leu	p.W49L	ENST00000358296	3/5	163	147	16	103	103	0	varscan-mutect	ZNF100,missense_variant,p.Trp49Leu,ENST00000358296,NM_173531.3;ZNF100,missense_variant,p.Trp49Leu,ENST00000608416,;ZNF100,missense_variant,p.Trp49Leu,ENST00000598026,;ZNF100,5_prime_UTR_variant,,ENST00000305570,;ZNF100,5_prime_UTR_variant,,ENST00000594401,;	A	ENST00000358296	Transcript	missense_variant	345/5745	146/1629	49/542	W/L	tGg/tTg		1		-1	ZNF100	HGNC	HGNC:12880	protein_coding	YES	CCDS42538.1	ENSP00000351042	Q8IYN0		UPI00001614AC	NM_173531.3	deleterious(0)		3/5		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF131,SMART_domains:SM00349																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	21745018	21745018	C	A	1	0	0	0	0	1	0	0	0	18292	595	21	2		2	ZNF100	19	21745018	Missense_Mutation	SNP	C	C3N-00293_TP	207699	21745018	36872598	286	13460											
PSG3	0	.	GRCh38	chr19	42740343	42740343	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcaggagccccttccaGgtgatgcgctgtgtgcaggg	6	8	17	10	1	0	2	0	2	0	0	1	3	1	3	3	3	4	3	3	3	0	1	rs573872925		C3N-00293_TP	C3N-00293_NB	G	G																c.42C>T	p.=	p.T14T	ENST00000327495	1/7	397	371	26	358	358	0	varscan-mutect	PSG3,synonymous_variant,p.=,ENST00000327495,NM_021016.3;PSG3,synonymous_variant,p.=,ENST00000595140,;PSG3,synonymous_variant,p.=,ENST00000614582,;PSG3,upstream_gene_variant,,ENST00000490592,;PSG3,non_coding_transcript_exon_variant,,ENST00000597009,;PSG3,upstream_gene_variant,,ENST00000594378,;	A	ENST00000327495	Transcript	synonymous_variant	227/1961	42/1287	14/428	T	acC/acT	rs573872925	1		-1	PSG3	HGNC	HGNC:9520	protein_coding	YES	CCDS12611.1	ENSP00000332215	Q16557		UPI0000073DC1	NM_021016.3			1/7		Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		rs573872925	.												A	2	1	45	42740343	42740343	G	A	1	0	0	0	0	0	0	0	1	12807	987	35	3		3	PSG3	19	42740343	Silent	SNP	G	C3N-00293_TP	20995325	42740343	15877273	287	13461											
SHANK1	0	.	GRCh38	chr19	50702607	50702607	+	Frame_Shift_Del	DEL	C	C	-																															tgcccagggagcccccggggCcccctgagccccccgtgccc																								rs760667018		C3N-00293_TP	C3N-00293_NB	C	C																c.1607delG	p.Gly536AlafsTer27	p.G536Afs*27	ENST00000293441	11/23	180	168	12	154	154	0	varindel-pindel	SHANK1,frameshift_variant,p.Gly536AlafsTer27,ENST00000293441,NM_016148.2;SHANK1,frameshift_variant,p.Gly536AlafsTer27,ENST00000391814,;SHANK1,frameshift_variant,p.Gly536AlafsTer27,ENST00000359082,;SHANK1,downstream_gene_variant,,ENST00000461154,;	-	ENST00000293441	Transcript	frameshift_variant	1626/6643	1607/6486	536/2161	G/X	gGc/gc	rs760667018	1		-1	SHANK1	HGNC	HGNC:15474	protein_coding	YES	CCDS12799.1	ENSP00000293441	Q9Y566		UPI000013E109	NM_016148.2			11/23		Low_complexity_(Seg):seg,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	45	50702607	50702607	C	-	1	0	1	0	1	0	0	0	0	14523	739	26	0		0	SHANK1	19	50702607	Frame_Shift_Del	DEL	C	C3N-00293_TP	7962264	50702607	7915009	288	13462											
SIGLEC14	0	.	GRCh38	chr19	51643540	51643540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggcagtccggctcacctgGtatagtagatccaggtgagg	9	8	14	10	1	1	2	1	1	0	1	3	2	3	2	3	5	0	4	3	5	3	3			C3N-00293_TP	C3N-00293_NB	G	G																c.1145C>A	p.Thr382Asn	p.T382N	ENST00000360844	6/7	82	67	15	73	73	0	strelka-varscan-mutect	SIGLEC14,missense_variant,p.Thr382Asn,ENST00000360844,NM_001098612.1;SIGLEC5,intron_variant,,ENST00000534261,NM_003830.3;AC018755.18,intron_variant,,ENST00000429354,;AC018755.18,intron_variant,,ENST00000599649,;LLNLR-470E3.1,upstream_gene_variant,,ENST00000619715,;SIGLEC14,non_coding_transcript_exon_variant,,ENST00000533866,;	T	ENST00000360844	Transcript	missense_variant	1187/2035	1145/1191	382/396	T/N	aCc/aAc	COSM1000137	1		-1	SIGLEC14	HGNC	HGNC:32926	protein_coding	YES	CCDS42604.1	ENSP00000354090	Q08ET2		UPI0000E44158	NM_001098612.1	deleterious(0.02)		6/7													1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	45	51643540	51643540	G	T	1	0	0	0	0	1	0	0	0	14573	1275	44	2		2	SIGLEC14	19	51643540	Missense_Mutation	SNP	G	C3N-00293_TP	940933	51643540	6974076	289	13463											
ZNF610	0	.	GRCh38	chr19	52365891	52365891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaaaatttcttctagtttCacaacacacatttttaataa	17	15	1	8	0	3	0	1	0	2	0	3	0	3	0	0	0	1	1	0	0	7	8	rs376963796		C3N-00293_TP	C3N-00293_NB	C	C																c.513C>T	p.=	p.F171F	ENST00000403906	6/6	181	167	14	62	62	0	strelka-varscan-mutect	ZNF610,synonymous_variant,p.=,ENST00000601151,NM_001161427.1;ZNF610,synonymous_variant,p.=,ENST00000403906,NM_001161425.1;ZNF610,synonymous_variant,p.=,ENST00000321287,NM_001161426.1;ZNF610,synonymous_variant,p.=,ENST00000327920,NM_173530.2;ZNF610,synonymous_variant,p.=,ENST00000616431,;ZNF610,synonymous_variant,p.=,ENST00000613461,;ZNF880,upstream_gene_variant,,ENST00000422689,NM_001145434.1;ZNF880,upstream_gene_variant,,ENST00000600321,;ZNF880,upstream_gene_variant,,ENST00000424032,;ZNF880,upstream_gene_variant,,ENST00000344085,;ZNF880,upstream_gene_variant,,ENST00000597976,;ZNF880,upstream_gene_variant,,ENST00000595099,;	T	ENST00000403906	Transcript	synonymous_variant	969/2191	513/1389	171/462	F	ttC/ttT	rs376963796	1		1	ZNF610	HGNC	HGNC:26687	protein_coding	YES	CCDS12851.1	ENSP00000383922	Q8N9Z0		UPI0000140AF2	NM_001161425.1			6/6		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF197																	LOW	1	SNV	1			1										PASS		rs376963796	.												T	2	4	45	52365891	52365891	C	T	1	0	0	0	0	0	0	0	1	18611	825	29	3		3	ZNF610	19	52365891	Silent	SNP	C	C3N-00293_TP	722351	52365891	6251725	290	13464											
ZNF534	0	.	GRCh38	chr19	52435211	52435211	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaggtgtgaacacaggTgagagctcaggtgggcagag	13	6	16	6	0	2	3	2	2	0	2	2	4	2	3	0	4	2	2	0	4	2	0	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.310+2T>A		p.X104_splice	ENST00000332323		100	88	12	77	77	0	strelka-varscan-mutect	ZNF534,splice_donor_variant,,ENST00000332323,NM_001143939.1;ZNF534,splice_donor_variant,,ENST00000433050,NM_001143938.1;ZNF534,splice_donor_variant,,ENST00000301085,;ZNF534,splice_donor_variant,,ENST00000617900,NM_001291368.1;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;	A	ENST00000332323	Transcript	splice_donor_variant	-/2086	310/2025	104/674				1		1	ZNF534	HGNC	HGNC:26337	protein_coding	YES	CCDS46165.1	ENSP00000327538	Q76KX8		UPI0000351984	NM_001143939.1				3/3																		HIGH	1	SNV	1			1										PASS		rs770264627	.												A	5	1	45	52435211	52435211	T	A	1	0	0	0	0	0	0	1	0	18546	1710	59	4		4	ZNF534	19	52435211	Splice_Site	SNP	T	C3N-00293_TP	69320	52435211	6182405	291	13465											
ZNF534	0	.	GRCh38	chr19	52438525	52438525	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actggagagagaccatacaaAtgtaatgaatgtggcaaggg	16	7	13	5	0	0	3	0	1	0	2	0	5	0	3	1	3	1	2	1	3	5	2	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.1104A>T	p.Lys368Asn	p.K368N	ENST00000332323	4/4	161	151	10	99	99	0	strelka-varscan-mutect	ZNF534,missense_variant,p.Lys368Asn,ENST00000332323,NM_001143939.1;ZNF534,missense_variant,p.Lys355Asn,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000617900,NM_001291368.1;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;	T	ENST00000332323	Transcript	missense_variant	1165/2086	1104/2025	368/674	K/N	aaA/aaT		1		1	ZNF534	HGNC	HGNC:26337	protein_coding	YES	CCDS46165.1	ENSP00000327538	Q76KX8		UPI0000351984	NM_001143939.1	deleterious(0.01)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF187,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	52438525	52438525	A	T	1	0	0	0	0	1	0	0	0	18546	98	4	4		4	ZNF534	19	52438525	Missense_Mutation	SNP	A	C3N-00293_TP	3314	52438525	6179091	292	13466											
PRKCG	0	.	GRCh38	chr19	53900471	53900471	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccttcacaatcagggcAtcatctacaggtgagcagcc	10	10	8	13	0	5	1	3	1	2	0	6	1	6	1	2	2	3	2	2	2	2	3	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.1426A>T	p.Ile476Phe	p.I476F	ENST00000263431	13/18	1030	925	105	829	829	0	strelka-varscan-mutect	PRKCG,missense_variant,p.Ile476Phe,ENST00000263431,NM_002739.3;	T	ENST00000263431	Transcript	missense_variant	1708/3133	1426/2094	476/697	I/F	Atc/Ttc		1		1	PRKCG	HGNC	HGNC:9402	protein_coding	YES	CCDS12867.1	ENSP00000263431	P05129		UPI000000DC69	NM_002739.3	deleterious(0)		13/18		PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF162,hmmpanther:PTHR24356,PROSITE_patterns:PS00108,PIRSF_domain:PIRSF000550,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	53900471	53900471	A	T	1	0	0	0	0	1	0	0	0	12645	217	8	4		4	PRKCG	19	53900471	Missense_Mutation	SNP	A	C3N-00293_TP	1461946	53900471	4717145	293	13467											
LILRB4	0	.	GRCh38	chr19	54666746	54666746	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggggtggaaatggacacTcgggtgagaacccgcccctg	9	5	16	11	3	0	1	0	1	0	1	1	5	0	3	3	5	1	0	3	5	2	0	rs372559600		C3N-00293_TP	C3N-00293_NB	T	T																c.1038T>A	p.=	p.T346T	ENST00000391736	12/14	219	193	26	182	182	0	strelka-varscan-mutect	LILRB4,synonymous_variant,p.=,ENST00000391736,NM_001278426.3;LILRB4,synonymous_variant,p.=,ENST00000430952,NM_001278427.3;LILRB4,synonymous_variant,p.=,ENST00000391733,NM_001278429.3,NM_001278428.3;LILRB4,synonymous_variant,p.=,ENST00000391734,;LILRB4,synonymous_variant,p.=,ENST00000434286,;LILRB4,downstream_gene_variant,,ENST00000270452,;LILRB4,non_coding_transcript_exon_variant,,ENST00000461262,;LILRB4,3_prime_UTR_variant,,ENST00000494796,;LILRB4,non_coding_transcript_exon_variant,,ENST00000470943,;AC011515.2,upstream_gene_variant,,ENST00000441512,;	A	ENST00000391736	Transcript	synonymous_variant	1353/4002	1038/1347	346/448	T	acT/acA	rs372559600	1		1	LILRB4	HGNC	HGNC:6608	protein_coding	YES	CCDS12902.1	ENSP00000375616	Q8NHJ6		UPI0000034C02	NM_001278426.3			12/14																			LOW	1	SNV	5			1										PASS		rs372559600	.												A	2	1	45	54666746	54666746	T	A	1	0	0	0	0	0	0	0	1	8701	1565	54	4		4	LILRB4	19	54666746	Silent	SNP	T	C3N-00293_TP	766275	54666746	3950870	294	13468											
FAM71E2	0	.	GRCh38	chr19	55362497	55362497	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtggacgaggtccaggggGatcatcctgggagagggaga	10	5	20	6	1	1	2	1	0	0	2	3	7	3	4	2	7	0	0	2	7	0	0	rs778545385		C3N-00293_TP	C3N-00293_NB	G	G																c.312C>A	p.=	p.I104I	ENST00000424985	3/11	95	86	9	63	63	0	strelka-mutect	FAM71E2,synonymous_variant,p.=,ENST00000424985,NM_001145402.1;IL11,downstream_gene_variant,,ENST00000264563,NM_000641.3;IL11,downstream_gene_variant,,ENST00000585513,;IL11,downstream_gene_variant,,ENST00000590625,NM_001267718.1;FAM71E2,3_prime_UTR_variant,,ENST00000585734,;CTD-2105E13.6,upstream_gene_variant,,ENST00000591954,;	T	ENST00000424985	Transcript	synonymous_variant	506/3191	312/2769	104/922	I	atC/atA	rs778545385,COSM4590825,COSM4590826	1		-1	FAM71E2	HGNC	HGNC:25278	protein_coding	YES		ENSP00000398617	Q8N5Q1		UPI0001949ABA	NM_001145402.1			3/11		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF12,Pfam_domain:PF12480											0,1,1						LOW		SNV	5		0,1,1	1										PASS		rs778545385	.												T	2	4	45	55362497	55362497	G	T	1	0	0	0	0	0	0	0	1	5476	1164	41	2		2	FAM71E2	19	55362497	Silent	SNP	G	C3N-00293_TP	695751	55362497	3255119	295	13469											
SBK2	0	.	GRCh38	chr19	55530128	55530128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtaggggatgggcggccCggccaggcgcagcagcgtcc	5	4	19	13	5	0	0	0	0	0	0	1	1	1	1	3	6	2	3	3	6	1	1			C3N-00293_TP	C3N-00293_NB	C	C																c.652G>T	p.Gly218Trp	p.G218W	ENST00000413299	4/4	49	44	5	32	32	0	strelka-mutect	SBK2,missense_variant,p.Gly218Trp,ENST00000413299,NM_001101401.2;SBK2,missense_variant,p.Gly218Trp,ENST00000344158,;	A	ENST00000413299	Transcript	missense_variant	690/1085	652/1047	218/348	G/W	Ggg/Tgg	COSM4964458,COSM4964459	1		-1	SBK2	HGNC	HGNC:34416	protein_coding	YES	CCDS42631.1	ENSP00000389015	P0C263		UPI00015DFA43	NM_001101401.2	deleterious(0)		4/4		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF167,SMART_domains:SM00220,Superfamily_domains:SSF56112											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs935026083	.												A	3	1	45	55530128	55530128	C	A	1	0	0	0	0	1	0	0	0	14125	652	23	1		1	SBK2	19	55530128	Missense_Mutation	SNP	C	C3N-00293_TP	167631	55530128	3087488	296	13470											
NLRP5	0	.	GRCh38	chr19	56027501	56027501	+	Frame_Shift_Del	DEL	C	C	-																															gctcaagtcagaggtcgtgtCtccccgttacctgttagtta																								rs374218026		C3N-00293_TP	C3N-00293_NB	C	C																c.1268delC	p.Ser423PhefsTer6	p.S423Ffs*6	ENST00000390649	7/15	226	200	26	227	227	0	sindel-varindel-pindel	NLRP5,frameshift_variant,p.Ser423PhefsTer6,ENST00000390649,NM_153447.4;NLRP5,frameshift_variant,p.Ser423PhefsTer6,ENST00000621651,;	-	ENST00000390649	Transcript	frameshift_variant	1268/3888	1268/3603	423/1200	S/X	tCt/tt	rs374218026	1		1	NLRP5	HGNC	HGNC:21269	protein_coding	YES	CCDS12938.1	ENSP00000375063	P59047		UPI00001AEEBD	NM_153447.4			7/15		hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Pfam_domain:PF05729,Superfamily_domains:SSF52540																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	45	56027501	56027501	C	-	1	0	1	0	1	0	0	0	0	10518	913	32	0		0	NLRP5	19	56027501	Frame_Shift_Del	DEL	C	C3N-00293_TP	497373	56027501	2590115	297	13471											
ZSCAN5B	0	.	GRCh38	chr19	56192952	56192952	+	Frame_Shift_Del	DEL	C	C	-																															cagggttcctgtcgtgatttCcaagttgagtttctggggac																								novel		C3N-00293_TP	C3N-00293_NB	C	C																c.101delG	p.Gly34GlufsTer12	p.G34Efs*12	ENST00000586855	2/5	162	148	14	129	129	0	sindel-varindel-pindel	ZSCAN5B,frameshift_variant,p.Gly34GlufsTer12,ENST00000586855,;ZSCAN5B,frameshift_variant,p.Gly34GlufsTer12,ENST00000358992,NM_001080456.2;ZSCAN5B,frameshift_variant,p.Gly34GlufsTer12,ENST00000589938,;ZSCAN5B,frameshift_variant,p.Gly34GlufsTer12,ENST00000587032,;	-	ENST00000586855	Transcript	frameshift_variant	415/2059	101/1488	34/495	G/X	gGa/ga		1		-1	ZSCAN5B	HGNC	HGNC:34246	protein_coding	YES	CCDS46203.1	ENSP00000466072	A6NJL1		UPI000059D7BA				2/5		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF164																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	45	56192952	56192952	C	-	1	0	1	0	1	0	0	0	0	18838	855	30	0		0	ZSCAN5B	19	56192952	Frame_Shift_Del	DEL	C	C3N-00293_TP	165451	56192952	2424664	298	13472											
TMEM74B	0	.	GRCh38	chr20	1181028	1181028	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcgcccttgcacagggaGaccatgagcagcaccgacaa	12	4	11	14	2	0	2	0	1	0	1	1	4	0	2	3	1	4	4	3	1	1	1	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.591C>T	p.=	p.V197V	ENST00000381894	2/2	162	141	21	129	129	0	strelka-varscan-mutect	TMEM74B,synonymous_variant,p.=,ENST00000381894,NM_001304748.1,NM_018354.2;PSMF1,intron_variant,,ENST00000381898,;TMEM74B,downstream_gene_variant,,ENST00000429036,;TMEM74B,downstream_gene_variant,,ENST00000481747,;PSMF1,downstream_gene_variant,,ENST00000418246,;	A	ENST00000381894	Transcript	synonymous_variant	1263/1730	591/771	197/256	V	gtC/gtT		1		-1	TMEM74B	HGNC	HGNC:15893	protein_coding	YES	CCDS13011.1	ENSP00000371318	Q9NUR3		UPI0000049822	NM_001304748.1,NM_018354.2			2/2		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR16125,Pfam_domain:PF14927																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	45	1181028	1181028	G	A	1	0	0	0	0	0	0	0	1	16678	929	33	3		3	TMEM74B	20	1181028	Silent	SNP	G	C3N-00293_TP		1181028	63263139	299	13473											
TASP1	0	.	GRCh38	chr20	13528513	13528513	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatccataaagagcagccTggggaaaaaagaaaatagat	20	5	9	7	0	0	3	0	0	0	3	1	4	1	4	2	2	2	1	2	2	8	2	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.796-2A>T		p.X266_splice	ENST00000337743		188	175	13	132	132	0	strelka-varscan-mutect	TASP1,splice_acceptor_variant,,ENST00000337743,NM_017714.2;TASP1,splice_acceptor_variant,,ENST00000455532,;TASP1,splice_acceptor_variant,,ENST00000480436,;TASP1,splice_acceptor_variant,,ENST00000465381,;	A	ENST00000337743	Transcript	splice_acceptor_variant	-/2352	796/1263	266/420				1		-1	TASP1	HGNC	HGNC:15859	protein_coding	YES	CCDS13116.1	ENSP00000338624	Q9H6P5		UPI00000382E5	NM_017714.2				9/13																		HIGH	1	SNV	1			1										PASS		rs772519686	.												A	5	1	45	13528513	13528513	T	A	1	0	0	0	0	0	0	1	0	15988	1594	55	4		4	TASP1	20	13528513	Splice_Site	SNP	T	C3N-00293_TP	12347485	13528513	50915654	300	13474											
SYNDIG1	0	.	GRCh38	chr20	24543485	24543485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagacagcctcgagtacccgGatgggaagttcattgacctc	11	8	11	11	2	1	2	1	1	0	1	3	5	1	4	3	2	2	2	3	2	3	3			C3N-00293_TP	C3N-00293_NB	G	G																c.388G>A	p.Asp130Asn	p.D130N	ENST00000376862	2/4	414	356	58	350	350	0	strelka-varscan-mutect	SYNDIG1,missense_variant,p.Asp130Asn,ENST00000376862,NM_024893.2;	A	ENST00000376862	Transcript	missense_variant	1021/2522	388/777	130/258	D/N	Gat/Aat	COSM4399897	1		1	SYNDIG1	HGNC	HGNC:15885	protein_coding	YES	CCDS13164.1	ENSP00000366058	Q9H7V2		UPI00001285DC	NM_024893.2	tolerated(0.05)		2/4		hmmpanther:PTHR14768,hmmpanther:PTHR14768:SF3											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	45	24543485	24543485	G	A	1	0	0	0	0	1	0	0	0	15835	1174	41	3		3	SYNDIG1	20	24543485	Missense_Mutation	SNP	G	C3N-00293_TP	11014972	24543485	39900682	301	13475											
FAM182B	0	.	GRCh38	chr20	25774950	25774950	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccccagggaggcatcacTcacagccgcttgcgacaccg	8	4	12	17	4	2	0	2	0	0	0	2	2	2	1	4	3	2	2	4	3	0	1	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.370A>G	p.Ser124Gly	p.S124G	ENST00000376403	3/3	210	197	13	147	147	0	varscan-mutect	FAM182B,missense_variant,p.Ser124Gly,ENST00000376403,;FAM182B,missense_variant,p.Ser123Gly,ENST00000376404,;FAM182B,downstream_gene_variant,,ENST00000584071,;FAM182B,intron_variant,,ENST00000478164,;FAM182B,intron_variant,,ENST00000485279,;FAM182B,intron_variant,,ENST00000453481,;FAM182B,downstream_gene_variant,,ENST00000582267,;FAM182B,downstream_gene_variant,,ENST00000584356,;	C	ENST00000376403	Transcript	missense_variant	749/1681	370/459	124/152	S/G	Agt/Ggt		1		-1	FAM182B	HGNC	HGNC:34503	protein_coding	YES		ENSP00000365585	Q5T319		UPI000047001E		deleterious_low_confidence(0.04)		3/3		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	25774950	25774950	T	C	1	0	0	0	0	1	0	0	0	5356	1551	54	5		5	FAM182B	20	25774950	Missense_Mutation	SNP	T	C3N-00293_TP	1231465	25774950	38669217	302	13476											
BCAS1	0	.	GRCh38	chr20	54028558	54028558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctggagtccttgggcttgGagggagcttctcctcctgct	4	12	14	11	0	1	0	0	0	1	0	4	3	3	3	3	4	3	4	3	4	0	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.557C>G	p.Ser186Cys	p.S186C	ENST00000395961	4/12	450	421	29	384	384	0	strelka-varscan-mutect	BCAS1,missense_variant,p.Ser48Cys,ENST00000448484,;BCAS1,missense_variant,p.Ser186Cys,ENST00000395961,NM_003657.2;BCAS1,missense_variant,p.Ser186Cys,ENST00000371435,NM_001316361.2,NM_001323347.1;	C	ENST00000395961	Transcript	missense_variant	724/3303	557/1755	186/584	S/C	tCc/tGc		1		-1	BCAS1	HGNC	HGNC:974	protein_coding	YES	CCDS13444.1	ENSP00000379290	O75363		UPI000013D2E2	NM_003657.2	deleterious(0)		4/12		Low_complexity_(Seg):seg,hmmpanther:PTHR15016																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	54028558	54028558	G	C	1	0	0	0	0	1	0	0	0	1497	1174	41	4		4	BCAS1	20	54028558	Missense_Mutation	SNP	G	C3N-00293_TP	28253608	54028558	10415609	303	13477											
TMPRSS15	0	.	GRCh38	chr21	18294396	18294396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctttggcattacttcctCcaacaatctttggggtgatg	7	16	8	10	0	2	1	0	1	2	0	4	1	4	1	2	3	2	1	2	3	3	5	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.2360G>A	p.Gly787Glu	p.G787E	ENST00000284885	21/25	638	572	66	426	426	0	strelka-varscan-mutect	TMPRSS15,missense_variant,p.Gly787Glu,ENST00000284885,NM_002772.2;	T	ENST00000284885	Transcript	missense_variant	2394/3947	2360/3060	787/1019	G/E	gGa/gAa		1		-1	TMPRSS15	HGNC	HGNC:9490	protein_coding	YES	CCDS13571.1	ENSP00000284885	P98073		UPI000013DDBE	NM_002772.2	deleterious(0)		21/25		PROSITE_profiles:PS50287,PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF116,hmmpanther:PTHR24256,PIRSF_domain:PIRSF001138,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	18294396	18294396	C	T	1	0	0	0	0	1	0	0	0	16722	855	30	3		3	TMPRSS15	21	18294396	Missense_Mutation	SNP	C	C3N-00293_TP		18294396	28415587	304	13478											
KRTAP7-1	0	.	GRCh38	chr21	30829546	30829546	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaccaaagctgtagcccagGgagctgtagccattgcatcc	10	7	10	14	0	0	0	0	0	0	0	1	1	1	1	5	1	5	5	5	1	3	3	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.153C>A	p.=	p.S51S	ENST00000621162	1/1	354	334	20	294	294	0	strelka-varscan	KRTAP7-1,synonymous_variant,p.=,ENST00000621162,NM_181606.2;	T	ENST00000621162	Transcript	synonymous_variant	214/721	153/264	51/87	S	tcC/tcA		1		-1	KRTAP7-1	HGNC	HGNC:18934	protein_coding	YES	CCDS74780.1	ENSP00000479656	Q8IUC3		UPI00001B3DE7	NM_181606.2			1/1		PD061258,Pfam_domain:PF15034,hmmpanther:PTHR38504,Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		.	.												T	2	4	45	30829546	30829546	G	T	1	0	0	0	0	0	0	0	1	8467	1219	43	2		2	KRTAP7-1	21	30829546	Silent	SNP	G	C3N-00293_TP	12535150	30829546	15880437	305	13479											
SCAF4	0	.	GRCh38	chr21	31671754	31671754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccttccccactctctcCtgtcacggttactattatct	5	16	3	17	1	3	0	1	0	2	0	8	0	7	0	5	1	1	1	5	1	3	4	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.3089G>T	p.Arg1030Met	p.R1030M	ENST00000286835	20/20	228	204	24	144	144	0	strelka-varscan-mutect	SCAF4,missense_variant,p.Arg1030Met,ENST00000286835,NM_020706.2;SCAF4,missense_variant,p.Arg1008Met,ENST00000399804,NM_001145445.1;SCAF4,missense_variant,p.Arg1015Met,ENST00000434667,NM_001145444.1;SOD1,downstream_gene_variant,,ENST00000270142,NM_000454.4;SOD1,downstream_gene_variant,,ENST00000389995,;AP000254.8,upstream_gene_variant,,ENST00000609934,;SOD1,downstream_gene_variant,,ENST00000470944,;SOD1,downstream_gene_variant,,ENST00000476106,;	A	ENST00000286835	Transcript	missense_variant	3472/4193	3089/3444	1030/1147	R/M	aGg/aTg		1		-1	SCAF4	HGNC	HGNC:19304	protein_coding	YES	CCDS33537.1	ENSP00000286835	O95104		UPI0000206D66	NM_020706.2	deleterious_low_confidence(0)		20/20		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1262982775	.												A	3	1	45	31671754	31671754	C	A	1	0	0	0	0	1	0	0	0	14134	681	24	2		2	SCAF4	21	31671754	Missense_Mutation	SNP	C	C3N-00293_TP	842208	31671754	15038229	306	13480											
IL10RB	0	.	GRCh38	chr21	33283107	33283107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttactagtttcaaattactcCccagtatgactttgaggtcc	10	15	6	10	0	1	2	1	2	0	0	3	2	3	2	3	1	2	2	3	1	5	6	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.512C>T	p.Pro171Leu	p.P171L	ENST00000290200	5/7	518	462	56	332	332	0	strelka-varscan-mutect	IL10RB,missense_variant,p.Pro171Leu,ENST00000290200,NM_000628.4;AP000295.9,missense_variant,p.Pro299Leu,ENST00000433395,;IL10RB,missense_variant,p.Pro108Leu,ENST00000451065,;IL10RB,3_prime_UTR_variant,,ENST00000422891,;AP000295.9,3_prime_UTR_variant,,ENST00000432231,;IL10RB,non_coding_transcript_exon_variant,,ENST00000493295,;IL10RB,non_coding_transcript_exon_variant,,ENST00000498371,;	T	ENST00000290200	Transcript	missense_variant	620/1963	512/978	171/325	P/L	cCc/cTc		1		1	IL10RB	HGNC	HGNC:5965	protein_coding	YES	CCDS13623.1	ENSP00000290200	Q08334		UPI0000072ECA	NM_000628.4	tolerated(0.07)		5/7		PROSITE_profiles:PS50853,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF50,Pfam_domain:PF09294,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	33283107	33283107	C	T	1	0	0	0	0	1	0	0	0	7529	623	22	3		3	IL10RB	21	33283107	Missense_Mutation	SNP	C	C3N-00293_TP	1611353	33283107	13426876	307	13481											
RSPH1	0	.	GRCh38	chr21	42485734	42485734	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctcggccgtgccctcctGctgtccgttcacccaggtgc	3	9	12	17	3	1	0	1	0	0	0	4	1	3	0	5	2	4	3	5	2	0	1	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.436C>T	p.Gln146Ter	p.Q146*	ENST00000291536	5/9	337	315	22	365	365	0	strelka-varscan-mutect	RSPH1,stop_gained,p.Gln146Ter,ENST00000291536,NM_080860.3;RSPH1,stop_gained,p.Gln108Ter,ENST00000398352,NM_001286506.1;RSPH1,non_coding_transcript_exon_variant,,ENST00000493019,;	A	ENST00000291536	Transcript	stop_gained	604/1430	436/930	146/309	Q/*	Cag/Tag		1		-1	RSPH1	HGNC	HGNC:12371	protein_coding	YES	CCDS13688.1	ENSP00000291536	Q8WYR4		UPI000004FA34	NM_080860.3			5/9		hmmpanther:PTHR23084,Pfam_domain:PF02493,Gene3D:1h3iA01,SMART_domains:SM00698,Superfamily_domains:0038399																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	45	42485734	42485734	G	A	1	0	0	0	0	0	1	0	0	13959	1328	46	3		3	RSPH1	21	42485734	Nonsense_Mutation	SNP	G	C3N-00293_TP	9202627	42485734	4224249	308	13482											
LRRC3	0	.	GRCh38	chr21	44456898	44456898	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccggacggggccttccAgcacctgcaccggctcaggg	5	5	13	18	3	1	0	1	0	0	0	3	1	3	1	6	5	2	3	6	5	0	1	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.254A>T	p.Gln85Leu	p.Q85L	ENST00000291592	2/2	201	184	17	113	113	0	strelka-varscan-mutect	LRRC3,missense_variant,p.Gln85Leu,ENST00000291592,NM_030891.4;LRRC3-AS1,upstream_gene_variant,,ENST00000426578,;	T	ENST00000291592	Transcript	missense_variant	571/5869	254/774	85/257	Q/L	cAg/cTg		1		1	LRRC3	HGNC	HGNC:14965	protein_coding	YES	CCDS13711.1	ENSP00000291592	Q9BY71		UPI000012E946	NM_030891.4	tolerated(0.08)		2/2		PROSITE_profiles:PS51450,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	44456898	44456898	A	T	1	0	0	0	0	1	0	0	0	8879	188	7	4		4	LRRC3	21	44456898	Missense_Mutation	SNP	A	C3N-00293_TP	1971164	44456898	2253085	309	13483											
MYO18B	0	.	GRCh38	chr22	25868329	25868329	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttttccccaggccgtggagGagctcctggagaccctggat	6	10	13	12	1	0	1	0	0	0	1	2	5	2	4	5	5	1	1	5	5	0	2	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.3895G>T	p.Glu1299Ter	p.E1299*	ENST00000335473	22/44	204	183	21	191	191	0	strelka-mutect	MYO18B,stop_gained,p.Glu1299Ter,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,stop_gained,p.Glu1300Ter,ENST00000407587,;MYO18B,stop_gained,p.Glu1299Ter,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	T	ENST00000335473	Transcript	stop_gained	4145/8565	3895/7704	1299/2567	E/*	Gag/Tag		1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5			22/44		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF372,Low_complexity_(Seg):seg,SMART_domains:SM00242,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	45	25868329	25868329	G	T	1	0	0	0	0	0	1	0	0	10067	1175	41	2		2	MYO18B	22	25868329	Nonsense_Mutation	SNP	G	C3N-00293_TP		25868329	24950139	310	13484											
TTC28	0	.	GRCh38	chr22	27996201	27996201	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggatctctgtgagggcCtggccgatgagtgatgaggg	7	9	18	7	1	1	4	0	4	1	0	2	6	1	5	2	4	1	1	2	4	0	0	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.5178G>A	p.=	p.Q1726Q	ENST00000397906	17/23	202	186	16	211	211	0	strelka-varscan-mutect	TTC28,synonymous_variant,p.=,ENST00000397906,NM_001145418.1;TTC28,synonymous_variant,p.=,ENST00000612946,;TTC28,synonymous_variant,p.=,ENST00000431039,;TTC28-AS1,intron_variant,,ENST00000428584,;TTC28-AS1,intron_variant,,ENST00000454741,;TTC28-AS1,intron_variant,,ENST00000433317,;TTC28-AS1,intron_variant,,ENST00000434221,;TTC28-AS1,intron_variant,,ENST00000452612,;TTC28-AS1,intron_variant,,ENST00000417497,;TTC28-AS1,intron_variant,,ENST00000435348,;TTC28-AS1,intron_variant,,ENST00000453632,;TTC28-AS1,intron_variant,,ENST00000424161,;TTC28-AS1,downstream_gene_variant,,ENST00000430853,;TTC28-AS1,downstream_gene_variant,,ENST00000430525,;TTC28-AS1,upstream_gene_variant,,ENST00000426594,;TTC28-AS1_3,downstream_gene_variant,,ENST00000615579,;TTC28-AS1,intron_variant,,ENST00000540665,;TTC28,non_coding_transcript_exon_variant,,ENST00000469670,;	T	ENST00000397906	Transcript	synonymous_variant	5320/11795	5178/7446	1726/2481	Q	caG/caA		1		-1	TTC28	HGNC	HGNC:29179	protein_coding	YES	CCDS46678.1	ENSP00000381003	Q96AY4		UPI00003E58F8	NM_001145418.1			17/23		hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF106																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	45	27996201	27996201	C	T	1	0	0	0	0	0	0	0	1	17204	680	24	3		3	TTC28	22	27996201	Silent	SNP	C	C3N-00293_TP	2127872	27996201	22822267	311	13485											
WBP2NL	0	.	GRCh38	chr22	42022281	42022281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccacttagaaccttaaatGactggttcagctctatggga	11	13	8	9	0	2	2	1	1	1	1	3	3	3	3	2	2	2	2	2	2	5	5	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.439G>A	p.Asp147Asn	p.D147N	ENST00000328823	5/6	249	230	19	116	116	0	strelka-varscan-mutect	WBP2NL,missense_variant,p.Asp147Asn,ENST00000328823,NM_152613.2;WBP2NL,missense_variant,p.Asp73Asn,ENST00000543212,;WBP2NL,non_coding_transcript_exon_variant,,ENST00000475341,;WBP2NL,upstream_gene_variant,,ENST00000487176,;WBP2NL,missense_variant,p.Asp147Asn,ENST00000329620,;WBP2NL,missense_variant,p.Asp147Asn,ENST00000436265,;WBP2NL,3_prime_UTR_variant,,ENST00000445185,;WBP2NL,intron_variant,,ENST00000412113,;	A	ENST00000328823	Transcript	missense_variant	470/2255	439/930	147/309	D/N	Gac/Aac		1		1	WBP2NL	HGNC	HGNC:28389	protein_coding	YES	CCDS14029.1	ENSP00000332983	Q6ICG8		UPI00001AF89A	NM_152613.2	tolerated(0.98)		5/6		Pfam_domain:PF10349																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	42022281	42022281	G	A	1	0	0	0	0	1	0	0	0	17821	1290	45	3		3	WBP2NL	22	42022281	Missense_Mutation	SNP	G	C3N-00293_TP	14026080	42022281	8796187	312	13486											
NHS	0	.	GRCh38	chrX	17732120	17732120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttaccgcatgtctgccactGagatcctgaagagccccata	10	9	9	13	1	1	3	0	2	1	2	2	4	2	3	5	0	3	2	5	0	3	2	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.4549G>A	p.Glu1517Lys	p.E1517K	ENST00000380060	8/8	194	148	46	135	135	0	strelka-varscan-mutect	NHS,missense_variant,p.Glu1358Lys,ENST00000615422,;NHS,missense_variant,p.Glu1517Lys,ENST00000380060,NM_198270.3,NM_001291867.1;NHS,missense_variant,p.Glu1361Lys,ENST00000398097,NM_001136024.3;NHS,missense_variant,p.Glu1334Lys,ENST00000617601,NM_001291868.1;	A	ENST00000380060	Transcript	missense_variant	4887/8761	4549/4893	1517/1630	E/K	Gag/Aag		1		1	NHS	HGNC	HGNC:7820	protein_coding	YES	CCDS14181.1	ENSP00000369400	Q6T4R5		UPI00001DFBF3	NM_198270.3,NM_001291867.1	deleterious(0)		8/8		hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	17732120	17732120	G	A	1	0	0	0	0	1	0	0	0	10443	1291	45	3		3	NHS	23	17732120	Missense_Mutation	SNP	G	C3N-00293_TP		17732120	138308775	313	13487											
MAGEB6	0	.	GRCh38	chrX	26194882	26194882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagtacgtggtttaccggCaggtgtgcaacagtgatcct	10	11	12	8	2	0	1	0	1	0	0	1	1	1	1	2	3	4	4	2	3	4	4	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1036C>A	p.Gln346Lys	p.Q346K	ENST00000379034	2/2	139	114	25	105	105	0	strelka-varscan-mutect	MAGEB6,missense_variant,p.Gln346Lys,ENST00000379034,NM_173523.2;	A	ENST00000379034	Transcript	missense_variant	1185/1949	1036/1224	346/407	Q/K	Cag/Aag		1		1	MAGEB6	HGNC	HGNC:23796	protein_coding	YES	CCDS14217.1	ENSP00000368320	Q8N7X4		UPI00001413F4	NM_173523.2	deleterious(0.04)		2/2		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF80,hmmpanther:PTHR11736,Pfam_domain:PF01454,SMART_domains:SM01373																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	26194882	26194882	C	A	1	0	0	0	0	1	0	0	0	9096	711	25	2		2	MAGEB6	23	26194882	Missense_Mutation	SNP	C	C3N-00293_TP	8462762	26194882	129846013	314	13488											
DCAF8L2	0	.	GRCh38	chrX	27748407	27748407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaaatcatcctgccaaatCatccagttcctaaaggggag	14	8	9	10	0	2	1	2	0	0	1	5	3	5	2	4	2	1	1	4	2	4	2			C3N-00293_TP	C3N-00293_NB	C	C																c.1512C>T	p.=	p.I504I	ENST00000451261	5/5	139	132	7	98	98	0	strelka-varscan-mutect	DCAF8L2,synonymous_variant,p.=,ENST00000451261,;DCAF8L2,synonymous_variant,p.=,ENST00000545306,NM_001136533.1;DCAF8L2,downstream_gene_variant,,ENST00000431122,;DCAF8L2,downstream_gene_variant,,ENST00000583068,;	T	ENST00000451261	Transcript	synonymous_variant	1911/2295	1512/1896	504/631	I	atC/atT	COSM4856162,COSM4856163	1		1	DCAF8L2	HGNC	HGNC:31811	protein_coding	YES	CCDS59162.1	ENSP00000462745	P0C7V8		UPI000183CBD9				5/5		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF42,SMART_domains:SM00320,Superfamily_domains:SSF50978											1,1						LOW	1	SNV	4		1,1	1										PASS		.	.												T	2	4	45	27748407	27748407	C	T	1	0	0	0	0	0	0	0	1	4079	816	29	3		3	DCAF8L2	23	27748407	Silent	SNP	C	C3N-00293_TP	1553525	27748407	128292488	315	13489											
DMD	0	.	GRCh38	chrX	32342194	32342194	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagttggctccactgccAttgcggccccatcctcagac	6	10	9	16	1	2	2	1	1	1	1	4	2	4	2	5	2	2	2	5	2	0	2	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.5828T>A	p.Met1943Lys	p.M1943K	ENST00000357033	41/79	102	94	8	76	76	0	strelka-varscan-mutect	DMD,missense_variant,p.Met1943Lys,ENST00000357033,NM_000109.3,NM_004006.2;DMD,missense_variant,p.Met1939Lys,ENST00000378677,NM_004010.3,NM_004009.3;DMD,missense_variant,p.Met1943Lys,ENST00000620040,;DMD,missense_variant,p.Met1939Lys,ENST00000619831,;DMD,downstream_gene_variant,,ENST00000493412,;DMD,intron_variant,,ENST00000488902,;	T	ENST00000357033	Transcript	missense_variant	6035/13956	5828/11058	1943/3685	M/K	aTg/aAg		1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2	tolerated(1)		41/79		hmmpanther:PTHR11915:SF261,hmmpanther:PTHR11915,Pfam_domain:PF00435,PIRSF_domain:PIRSF002341,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	32342194	32342194	A	T	1	0	0	0	0	1	0	0	0	4387	217	8	4		4	DMD	23	32342194	Missense_Mutation	SNP	A	C3N-00293_TP	4593787	32342194	123698701	316	13490											
FAM47B	0	.	GRCh38	chrX	34943134	34943134	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagctgctcaagaaagcGgccctattttccgagctctc	12	9	8	12	2	2	1	1	0	1	1	4	2	3	1	2	1	4	3	2	1	5	3	rs143433018		C3N-00293_TP	C3N-00293_NB	G	G																c.303G>C	p.=	p.A101A	ENST00000329357	1/1	125	105	20	109	109	0	strelka-varscan-mutect	FAM47B,synonymous_variant,p.=,ENST00000329357,NM_152631.2;	C	ENST00000329357	Transcript	synonymous_variant	339/2120	303/1938	101/645	A	gcG/gcC	rs143433018	1		1	FAM47B	HGNC	HGNC:26659	protein_coding	YES	CCDS14236.1	ENSP00000328307	Q8NA70		UPI000013F47B	NM_152631.2			1/1		Pfam_domain:PF14642,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF192,Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		rs143433018	.												C	2	2	45	34943134	34943134	G	C	1	0	0	0	0	0	0	0	1	5448	1103	39	4		4	FAM47B	23	34943134	Silent	SNP	G	C3N-00293_TP	2600940	34943134	121097761	317	13491											
ZNF630	0	.	GRCh38	chrX	48060147	48060147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttctagtatctccctttGaaataaaagttctccagaaa	13	15	4	9	0	4	2	0	1	4	1	6	2	4	2	2	0	0	2	2	0	6	6	rs184943023		C3N-00293_TP	C3N-00293_NB	G	G																c.295C>G	p.Gln99Glu	p.Q99E	ENST00000442455	5/5	79	72	7	30	30	0	strelka-mutect	ZNF630,missense_variant,p.Gln99Glu,ENST00000442455,NM_001190255.2,NM_001282201.1;ZNF630,missense_variant,p.Gln99Glu,ENST00000409324,NM_001037735.3;ZNF630,missense_variant,p.Gln85Glu,ENST00000616492,;ZNF630,missense_variant,p.Gln99Glu,ENST00000428686,;ZNF630,missense_variant,p.Gln85Glu,ENST00000627643,;ZNF630,5_prime_UTR_variant,,ENST00000276054,NM_001282202.1;ZNF630,5_prime_UTR_variant,,ENST00000421903,;ZNF630-AS1,intron_variant,,ENST00000614448,;ZNF630,intron_variant,,ENST00000428463,;	C	ENST00000442455	Transcript	missense_variant	862/2829	295/1974	99/657	Q/E	Caa/Gaa	rs184943023	1		-1	ZNF630	HGNC	HGNC:28855	protein_coding	YES	CCDS35237.2	ENSP00000393163	Q2M218		UPI0000160BE4	NM_001190255.2,NM_001282201.1	deleterious(0.01)		5/5		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF216																	MODERATE		SNV	4			1										PASS		rs184943023	.												C	3	2	45	48060147	48060147	G	C	1	0	0	0	0	1	0	0	0	18629	1299	45	4		4	ZNF630	23	48060147	Missense_Mutation	SNP	G	C3N-00293_TP	13117013	48060147	107980748	318	13492											
KDM5C	0	.	GRCh38	chrX	53201883	53201883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcaaaagttgacagcctCggcaaagttgtagccttggt	11	10	12	8	1	0	1	0	1	0	0	1	1	0	1	2	2	3	5	2	2	4	4	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1837G>A	p.Glu613Lys	p.E613K	ENST00000375401	13/26	376	353	23	300	300	0	strelka-varscan-mutect	KDM5C,missense_variant,p.Glu546Lys,ENST00000452825,NM_001146702.1;KDM5C,missense_variant,p.Glu613Lys,ENST00000375401,NM_004187.3;KDM5C,missense_variant,p.Glu612Lys,ENST00000404049,NM_001282622.1;KDM5C,missense_variant,p.Glu613Lys,ENST00000375379,;KDM5C,missense_variant,p.Glu572Lys,ENST00000375383,;MIR6894,upstream_gene_variant,,ENST00000622662,;KDM5C,non_coding_transcript_exon_variant,,ENST00000465402,;KDM5C,upstream_gene_variant,,ENST00000477109,;KDM5C,non_coding_transcript_exon_variant,,ENST00000497100,;KDM5C,non_coding_transcript_exon_variant,,ENST00000481369,;	T	ENST00000375401	Transcript	missense_variant	2370/6031	1837/4683	613/1560	E/K	Gag/Aag		1		-1	KDM5C	HGNC	HGNC:11114	protein_coding	YES	CCDS14351.1	ENSP00000364550	P41229		UPI000013CBE3	NM_004187.3	deleterious(0)		13/26		Pfam_domain:PF02373,PROSITE_profiles:PS51184,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF43,SMART_domains:SM00558,Superfamily_domains:SSF51197																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	53201883	53201883	C	T	1	0	0	0	0	1	0	0	0	8053	893	31	1		1	KDM5C	23	53201883	Missense_Mutation	SNP	C	C3N-00293_TP	5141736	53201883	102839012	319	13493											
BRWD3	0	.	GRCh38	chrX	80676922	80676922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctagtgccacctccacctCttcctcgactccctcgtccc	4	10	4	23	2	1	0	0	0	1	0	7	1	5	0	8	0	1	0	8	0	1	2	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.5096G>A	p.Arg1699Lys	p.R1699K	ENST00000373275	41/41	157	139	18	125	125	0	strelka-varscan-mutect	BRWD3,missense_variant,p.Arg1699Lys,ENST00000373275,NM_153252.4;BRWD3,downstream_gene_variant,,ENST00000473691,;	T	ENST00000373275	Transcript	missense_variant	5313/11381	5096/5409	1699/1802	R/K	aGa/aAa		1		-1	BRWD3	HGNC	HGNC:17342	protein_coding	YES	CCDS14447.1	ENSP00000362372	Q6RI45		UPI000045785B	NM_153252.4	tolerated_low_confidence(0.89)		41/41		Low_complexity_(Seg):seg,hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	80676922	80676922	C	T	1	0	0	0	0	1	0	0	0	1700	913	32	3		3	BRWD3	23	80676922	Missense_Mutation	SNP	C	C3N-00293_TP	27475039	80676922	75363973	320	13494											
HDX	0	.	GRCh38	chrX	84344253	84344253	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagcatataaagtaccttGagagcttccttcagacaaac	14	11	6	10	0	2	2	2	1	0	2	3	3	3	2	2	0	4	3	2	0	5	7	novel		C3N-00293_TP	C3N-00293_NB	G	G																c.1657C>T	p.Gln553Ter	p.Q553*	ENST00000297977	6/10	127	117	10	91	91	0	strelka-varscan-mutect	HDX,stop_gained,p.Gln553Ter,ENST00000297977,NM_001177479.1,NM_144657.4;HDX,stop_gained,p.Gln495Ter,ENST00000506585,NM_001177478.1;HDX,stop_gained,p.Gln553Ter,ENST00000373177,;	A	ENST00000297977	Transcript	stop_gained	1769/6200	1657/2073	553/690	Q/*	Caa/Taa		1		-1	HDX	HGNC	HGNC:26411	protein_coding	YES	CCDS35342.1	ENSP00000297977	Q7Z353		UPI00001A9DA4	NM_001177479.1,NM_144657.4			6/10		hmmpanther:PTHR11636:SF80,hmmpanther:PTHR11636																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	45	84344253	84344253	G	A	1	0	0	0	0	0	1	0	0	6909	1304	45	3		3	HDX	23	84344253	Nonsense_Mutation	SNP	G	C3N-00293_TP	3667331	84344253	71696642	321	13495											
DACH2	0	.	GRCh38	chrX	86714688	86714688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcagcacagattcacagtCcactctccagagctggtacc	10	8	8	15	0	2	2	1	0	1	2	4	2	3	2	3	1	4	4	3	1	1	2	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.1072C>A	p.Pro358Thr	p.P358T	ENST00000373125	6/12	88	64	24	51	51	0	strelka-varscan-mutect	DACH2,missense_variant,p.Pro13Thr,ENST00000484479,;DACH2,missense_variant,p.Pro345Thr,ENST00000373131,NM_001139514.1;DACH2,missense_variant,p.Pro358Thr,ENST00000373125,NM_053281.3;DACH2,missense_variant,p.Pro191Thr,ENST00000508860,NM_001139515.1;DACH2,missense_variant,p.Pro139Thr,ENST00000510272,;DACH2,missense_variant,p.Pro186Thr,ENST00000613770,;DACH2,missense_variant,p.Pro358Thr,ENST00000461604,;DACH2,3_prime_UTR_variant,,ENST00000506327,;	A	ENST00000373125	Transcript	missense_variant	1072/2232	1072/1800	358/599	P/T	Cca/Aca		1		1	DACH2	HGNC	HGNC:16814	protein_coding	YES	CCDS14455.1	ENSP00000362217	Q96NX9		UPI00000717B4	NM_053281.3	tolerated(0.06)		6/12		hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	45	86714688	86714688	C	A	1	0	0	0	0	1	0	0	0	4022	855	30	2		2	DACH2	23	86714688	Missense_Mutation	SNP	C	C3N-00293_TP	2370435	86714688	69326207	322	13496											
RPA4	0	.	GRCh38	chrX	96884905	96884905	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacgatgagagtcaccgcAatttcatccaggacgaagtg	14	8	10	9	3	2	1	2	1	0	1	3	5	3	2	2	1	1	1	2	1	3	2	novel		C3N-00293_TP	C3N-00293_NB	A	A																c.595A>T	p.Asn199Tyr	p.N199Y	ENST00000373040	1/1	287	269	18	243	243	0	strelka-varscan-mutect	RPA4,missense_variant,p.Asn199Tyr,ENST00000373040,NM_013347.4;DIAPH2,intron_variant,,ENST00000324765,NM_006729.4;DIAPH2,intron_variant,,ENST00000373061,;DIAPH2,intron_variant,,ENST00000355827,;DIAPH2,intron_variant,,ENST00000373049,NM_007309.3;DIAPH2,intron_variant,,ENST00000373054,;	T	ENST00000373040	Transcript	missense_variant	998/1560	595/786	199/261	N/Y	Aat/Tat		1		1	RPA4	HGNC	HGNC:30305	protein_coding	YES	CCDS35345.1	ENSP00000362131	Q13156		UPI00001337A4	NM_013347.4	deleterious(0.01)		1/1		Gene3D:1.10.10.10,Pfam_domain:PF08784,PIRSF_domain:PIRSF036949,hmmpanther:PTHR13989,hmmpanther:PTHR13989:SF12,Superfamily_domains:SSF46785																	MODERATE		SNV				1										PASS		.	.												T	3	4	45	96884905	96884905	A	T	1	0	0	0	0	1	0	0	0	13791	130	5	4		4	RPA4	23	96884905	Missense_Mutation	SNP	A	C3N-00293_TP	10170217	96884905	59155990	323	13497											
NRK	0	.	GRCh38	chrX	105895500	105895500	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcagaatgtgctgctgaCtcataatgctgaagtaaaac	14	10	10	7	0	2	3	2	2	0	1	2	3	2	3	0	1	4	4	0	1	5	2	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.557C>G	p.Thr186Ser	p.T186S	ENST00000243300	7/29	121	110	11	95	95	0	strelka-varscan-mutect	NRK,missense_variant,p.Thr186Ser,ENST00000243300,NM_198465.3;NRK,downstream_gene_variant,,ENST00000536164,;NRK,missense_variant,p.Thr186Ser,ENST00000428173,;	G	ENST00000243300	Transcript	missense_variant	860/8062	557/4749	186/1582	T/S	aCt/aGt		1		1	NRK	HGNC	HGNC:25391	protein_coding	YES	CCDS65305.1	ENSP00000434830	Q7Z2Y5		UPI0000418886	NM_198465.3	deleterious(0)		7/29		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF417,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	45	105895500	105895500	C	G	1	0	0	0	0	1	0	0	0	10713	565	20	4		4	NRK	23	105895500	Missense_Mutation	SNP	C	C3N-00293_TP	9010595	105895500	50145395	324	13498											
TBC1D8B	0	.	GRCh38	chrX	106848295	106848295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgattattttaatcgtcGaattattggtaaaagaaaaa	16	14	7	4	2	0	2	0	1	0	1	2	3	0	2	1	1	0	1	1	1	8	6	rs146374093		C3N-00293_TP	C3N-00293_NB	G	G																c.1829G>A	p.Arg610Gln	p.R610Q	ENST00000357242	11/21	84	72	12	39	39	0	strelka-varscan-mutect	TBC1D8B,missense_variant,p.Arg610Gln,ENST00000357242,NM_017752.2;TBC1D8B,missense_variant,p.Arg604Gln,ENST00000276175,;TBC1D8B,missense_variant,p.Arg610Gln,ENST00000310452,NM_198881.1;MORC4,intron_variant,,ENST00000604604,;	A	ENST00000357242	Transcript	missense_variant	2003/5717	1829/3363	610/1120	R/Q	cGa/cAa	rs146374093,COSM1598612,COSM227963	1		1	TBC1D8B	HGNC	HGNC:24715	protein_coding	YES	CCDS14522.1	ENSP00000349781	Q0IIM8		UPI0000225CD5	NM_017752.2	deleterious(0)		11/21		PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF320,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs146374093	.												A	3	1	45	106848295	106848295	G	A	1	0	0	0	0	1	0	0	0	16031	1058	37	1		1	TBC1D8B	23	106848295	Missense_Mutation	SNP	G	C3N-00293_TP	952795	106848295	49192600	325	13499											
TSC22D3	0	.	GRCh38	chrX	107775284	107775284	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgccgaaagttgcTcactgtagggctgcccgggt	6	9	14	12	2	1	0	1	0	0	0	1	1	1	0	2	2	5	6	2	2	2	2	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.136A>C	p.Ser46Arg	p.S46R	ENST00000372383	1/3	264	242	22	250	250	0	strelka-varscan-mutect	TSC22D3,missense_variant,p.Ser46Arg,ENST00000372383,NM_198057.2;TSC22D3,missense_variant,p.Ser46Arg,ENST00000315660,NM_001318468.1;TSC22D3,missense_variant,p.Ser46Arg,ENST00000372384,NM_001318470.1;TSC22D3,missense_variant,p.Ser46Arg,ENST00000506081,;TSC22D3,missense_variant,p.Ser46Arg,ENST00000514897,;TSC22D3,missense_variant,p.Ser46Arg,ENST00000510887,;TSC22D3,missense_variant,p.Ser46Arg,ENST00000502650,;TSC22D3,missense_variant,p.Ser46Arg,ENST00000480691,;TSC22D3,missense_variant,p.Ser46Arg,ENST00000506724,;TSC22D3,missense_variant,p.Ser46Arg,ENST00000502961,;TSC22D3,missense_variant,p.Ser46Arg,ENST00000505965,;TSC22D3,5_prime_UTR_variant,,ENST00000514426,;NCBP2L,upstream_gene_variant,,ENST00000509000,;	G	ENST00000372383	Transcript	missense_variant	504/2266	136/603	46/200	S/R	Agc/Cgc		1		-1	TSC22D3	HGNC	HGNC:3051	protein_coding	YES	CCDS14530.1	ENSP00000361458	Q99576		UPI000006DE94	NM_198057.2	deleterious_low_confidence(0)		1/3		hmmpanther:PTHR12348																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	45	107775284	107775284	T	G	1	0	0	0	0	1	0	0	0	17115	1551	54	5		5	TSC22D3	23	107775284	Missense_Mutation	SNP	T	C3N-00293_TP	926989	107775284	48265611	326	13500											
TENM1	0	.	GRCh38	chrX	124561740	124561740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagcctgtcccactccaacCcacctgacacacacagtgcc	10	5	6	20	0	0	1	0	1	0	0	2	1	2	1	6	0	3	1	6	0	1	0	novel		C3N-00293_TP	C3N-00293_NB	C	C																c.2365G>A	p.Gly789Ser	p.G789S	ENST00000422452	14/32	199	175	24	162	162	0	strelka-varscan-mutect	TENM1,missense_variant,p.Gly789Ser,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,missense_variant,p.Gly789Ser,ENST00000371130,NM_014253.3;	T	ENST00000422452	Transcript	missense_variant	2429/12891	2365/8199	789/2732	G/S	Ggt/Agt		1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1	deleterious(0)		14/32		PROSITE_profiles:PS50026,hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	45	124561740	124561740	C	T	1	0	0	0	0	1	0	0	0	16171	623	22	3		3	TENM1	23	124561740	Missense_Mutation	SNP	C	C3N-00293_TP	16786456	124561740	31479155	327	13501											
MPP1	0	.	GRCh38	chrX	154792149	154792149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgggggattaccatgggcTcttctgtgaccttctcaaac	8	11	11	11	1	3	1	1	1	3	0	4	3	3	2	2	3	2	1	2	3	2	3	novel		C3N-00293_TP	C3N-00293_NB	T	T																c.239A>G	p.Glu80Gly	p.E80G	ENST00000369534	2/12	60	50	10	43	43	0	strelka-mutect	MPP1,missense_variant,p.Glu50Gly,ENST00000413259,NM_001166462.1;MPP1,missense_variant,p.Glu80Gly,ENST00000369534,NM_001166460.1,NM_002436.3;MPP1,missense_variant,p.Glu80Gly,ENST00000393531,NM_001166461.1;MPP1,missense_variant,p.Glu34Gly,ENST00000393529,;MPP1,intron_variant,,ENST00000453245,;MPP1,intron_variant,,ENST00000428488,;MPP1,intron_variant,,ENST00000369531,;MPP1,non_coding_transcript_exon_variant,,ENST00000471821,;MPP1,non_coding_transcript_exon_variant,,ENST00000488694,;MPP1,intron_variant,,ENST00000462825,;MPP1,upstream_gene_variant,,ENST00000488754,;MPP1,3_prime_UTR_variant,,ENST00000439370,;MPP1,3_prime_UTR_variant,,ENST00000417435,;MPP1,intron_variant,,ENST00000494170,;MPP1,intron_variant,,ENST00000475943,;	C	ENST00000369534	Transcript	missense_variant	387/2042	239/1401	80/466	E/G	gAg/gGg		1		-1	MPP1	HGNC	HGNC:7219	protein_coding	YES	CCDS14762.1	ENSP00000358547	Q00013		UPI0000129E86	NM_001166460.1,NM_002436.3	deleterious(0)		2/12		PROSITE_profiles:PS50106,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF37,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	45	154792149	154792149	T	C	1	0	0	0	0	1	0	0	0	9699	1551	54	5		5	MPP1	23	154792149	Missense_Mutation	SNP	T	C3N-00293_TP	30230409	154792149	1248746	328	13502											
SCNN1D	0	.	GRCh38	chr1	1286959	1286959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactcgggcagccgggtcaGagtggggttcagactggtga	7	7	17	10	2	2	3	2	1	0	2	3	3	2	3	2	5	1	2	2	5	0	1			C3N-00294_TP	C3N-00294_NB	G	G																c.1103G>C	p.Arg368Thr	p.R368T	ENST00000379116	8/18	113	84	29	115	115	0	strelka-varscan-mutect	SCNN1D,missense_variant,p.Arg204Thr,ENST00000338555,;SCNN1D,missense_variant,p.Arg368Thr,ENST00000379116,NM_001130413.3;SCNN1D,missense_variant,p.Arg369Thr,ENST00000616713,;SCNN1D,missense_variant,p.Arg204Thr,ENST00000400928,;SCNN1D,missense_variant,p.Arg270Thr,ENST00000325425,;SCNN1D,upstream_gene_variant,,ENST00000379099,;SCNN1D,downstream_gene_variant,,ENST00000470022,;SCNN1D,downstream_gene_variant,,ENST00000467651,;SCNN1D,3_prime_UTR_variant,,ENST00000379101,;	C	ENST00000379116	Transcript	missense_variant	1329/3044	1103/2409	368/802	R/T	aGa/aCa	COSM3788528,COSM3788529	1		1	SCNN1D	HGNC	HGNC:10601	protein_coding	YES	CCDS44037.2	ENSP00000368411		A6NNF7	UPI0001EF94B5	NM_001130413.3	deleterious(0.04)		8/18		hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF132,TIGRFAM_domain:TIGR00859,Pfam_domain:PF00858											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1436040833	.												C	3	2	46	1286959	1286959	G	C	1	0	0	0	0	1	0	0	0	14198	942	33	4		4	SCNN1D	1	1286959	Missense_Mutation	SNP	G	C3N-00294_TP		1286959	247669463	1	13503											
CCNL2	0	.	GRCh38	chr1	1390509	1390509	+	Frame_Shift_Del	DEL	C	C	-																															taagcagatttcctgaatttCttcttcagttgctccaaaca																								novel		C3N-00294_TP	C3N-00294_NB	C	C																c.814delG	p.Glu272LysfsTer7	p.E272Kfs*7	ENST00000400809	7/11	110	90	20	155	155	0	sindel-varindel	CCNL2,frameshift_variant,p.Glu272LysfsTer7,ENST00000400809,NM_030937.4;CCNL2,frameshift_variant,p.Glu50LysfsTer7,ENST00000408952,;CCNL2,downstream_gene_variant,,ENST00000408918,NM_001039577.3;CCNL2,downstream_gene_variant,,ENST00000497013,;CCNL2,non_coding_transcript_exon_variant,,ENST00000505849,;CCNL2,non_coding_transcript_exon_variant,,ENST00000469113,;CCNL2,downstream_gene_variant,,ENST00000471930,;CCNL2,3_prime_UTR_variant,,ENST00000481223,;CCNL2,3_prime_UTR_variant,,ENST00000482621,;CCNL2,3_prime_UTR_variant,,ENST00000488340,;CCNL2,non_coding_transcript_exon_variant,,ENST00000496007,;CCNL2,non_coding_transcript_exon_variant,,ENST00000418865,;CCNL2,non_coding_transcript_exon_variant,,ENST00000480479,;CCNL2,non_coding_transcript_exon_variant,,ENST00000482365,;CCNL2,non_coding_transcript_exon_variant,,ENST00000492998,;CCNL2,non_coding_transcript_exon_variant,,ENST00000480646,;CCNL2,upstream_gene_variant,,ENST00000463260,;CCNL2,downstream_gene_variant,,ENST00000425598,;CCNL2,downstream_gene_variant,,ENST00000473872,;CCNL2,downstream_gene_variant,,ENST00000463895,;	-	ENST00000400809	Transcript	frameshift_variant	820/2305	814/1563	272/520	E/X	Gaa/aa		1		-1	CCNL2	HGNC	HGNC:20570	protein_coding	YES	CCDS30557.1	ENSP00000383611	Q96S94		UPI00000713F5	NM_030937.4			7/11		hmmpanther:PTHR10026,hmmpanther:PTHR10026:SF45,PIRSF_domain:PIRSF036580,Gene3D:1.10.472.10,Pfam_domain:PF02984,SMART_domains:SM01332,SMART_domains:SM00385,Superfamily_domains:SSF47954																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	46	1390509	1390509	C	-	1	0	1	0	1	0	0	0	0	2631	922	32	0		0	CCNL2	1	1390509	Frame_Shift_Del	DEL	C	C3N-00294_TP	103550	1390509	247565913	2	13504	311	2									
CCNL2	0	.	GRCh38	chr1	1390515	1390515	+	Missense_Mutation	SNP	C	C	G																															gatttcctgaatttcttcttCagttgctccaaacaaaagaa																								novel		C3N-00294_TP	C3N-00294_NB	C	C																c.808G>C	p.Glu270Gln	p.E270Q	ENST00000400809	7/11	122	98	24	156	155	1	strelka-varscan-mutect	CCNL2,missense_variant,p.Glu270Gln,ENST00000400809,NM_030937.4;CCNL2,missense_variant,p.Glu48Gln,ENST00000408952,;CCNL2,downstream_gene_variant,,ENST00000408918,NM_001039577.3;CCNL2,downstream_gene_variant,,ENST00000497013,;CCNL2,non_coding_transcript_exon_variant,,ENST00000505849,;CCNL2,non_coding_transcript_exon_variant,,ENST00000469113,;CCNL2,downstream_gene_variant,,ENST00000471930,;CCNL2,3_prime_UTR_variant,,ENST00000481223,;CCNL2,3_prime_UTR_variant,,ENST00000482621,;CCNL2,3_prime_UTR_variant,,ENST00000488340,;CCNL2,non_coding_transcript_exon_variant,,ENST00000496007,;CCNL2,non_coding_transcript_exon_variant,,ENST00000418865,;CCNL2,non_coding_transcript_exon_variant,,ENST00000480479,;CCNL2,non_coding_transcript_exon_variant,,ENST00000482365,;CCNL2,non_coding_transcript_exon_variant,,ENST00000492998,;CCNL2,non_coding_transcript_exon_variant,,ENST00000480646,;CCNL2,upstream_gene_variant,,ENST00000463260,;CCNL2,downstream_gene_variant,,ENST00000425598,;CCNL2,downstream_gene_variant,,ENST00000473872,;CCNL2,downstream_gene_variant,,ENST00000463895,;	G	ENST00000400809	Transcript	missense_variant	814/2305	808/1563	270/520	E/Q	Gaa/Caa		1		-1	CCNL2	HGNC	HGNC:20570	protein_coding	YES	CCDS30557.1	ENSP00000383611	Q96S94		UPI00000713F5	NM_030937.4	deleterious(0.01)		7/11		hmmpanther:PTHR10026,hmmpanther:PTHR10026:SF45,PIRSF_domain:PIRSF036580,Gene3D:1.10.472.10,Pfam_domain:PF02984,SMART_domains:SM01332,SMART_domains:SM00385,Superfamily_domains:SSF47954																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	1390515	1390515	C	G	1	0	0	0	0	1	0	0	0	2631	835	29	4		4	CCNL2	1	1390515	Missense_Mutation	SNP	C	C3N-00294_TP	6	1390515	247565907	3	13505	311	2									
MRPL20	0	.	GRCh38	chr1	1402242	1402242	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgctaggactttcctgttGagctccacctggcactgaaa	8	11	9	13	1	0	2	0	2	0	0	3	3	3	3	4	2	1	4	4	2	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.291C>G	p.=	p.L97L	ENST00000344843	4/4	76	58	18	85	85	0	strelka-varscan-mutect	MRPL20,synonymous_variant,p.=,ENST00000344843,NM_017971.3;MRPL20,3_prime_UTR_variant,,ENST00000492508,;CCNL2,upstream_gene_variant,,ENST00000400809,NM_030937.4;CCNL2,upstream_gene_variant,,ENST00000408918,NM_001039577.3;MRPL20,downstream_gene_variant,,ENST00000482352,;CCNL2,upstream_gene_variant,,ENST00000497013,;RP4-758J18.2,downstream_gene_variant,,ENST00000447725,;RP4-758J18.2,downstream_gene_variant,,ENST00000444362,;RP4-758J18.2,downstream_gene_variant,,ENST00000453521,;RP4-758J18.2,downstream_gene_variant,,ENST00000448629,;RP4-758J18.2,downstream_gene_variant,,ENST00000576232,;RP4-758J18.2,downstream_gene_variant,,ENST00000570344,;RN7SL657P,downstream_gene_variant,,ENST00000582431,;MRPL20,non_coding_transcript_exon_variant,,ENST00000493287,;CCNL2,upstream_gene_variant,,ENST00000471930,;MRPL20,downstream_gene_variant,,ENST00000477686,;MRPL20,non_coding_transcript_exon_variant,,ENST00000487659,;CCNL2,upstream_gene_variant,,ENST00000496007,;CCNL2,upstream_gene_variant,,ENST00000481223,;RP4-758J18.2,downstream_gene_variant,,ENST00000572242,;RP4-758J18.2,downstream_gene_variant,,ENST00000418833,;CCNL2,upstream_gene_variant,,ENST00000482621,;CCNL2,upstream_gene_variant,,ENST00000488340,;CCNL2,upstream_gene_variant,,ENST00000425598,;CCNL2,upstream_gene_variant,,ENST00000473872,;CCNL2,upstream_gene_variant,,ENST00000463895,;	C	ENST00000344843	Transcript	synonymous_variant	387/721	291/450	97/149	L	ctC/ctG		1		-1	MRPL20	HGNC	HGNC:14478	protein_coding	YES	CCDS26.1	ENSP00000341082	Q9BYC9		UPI000006F0A8	NM_017971.3			4/4		Gene3D:2ghjB02,Pfam_domain:PF00453,Prints_domain:PR00062,hmmpanther:PTHR10986,hmmpanther:PTHR10986:SF16,Superfamily_domains:SSF74731,TIGRFAM_domain:TIGR01032																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	46	1402242	1402242	G	C	1	0	0	0	0	0	0	0	1	9761	1277	45	4		4	MRPL20	1	1402242	Silent	SNP	G	C3N-00294_TP	11727	1402242	247554180	4	13506											
ANKRD65	0	.	GRCh38	chr1	1419270	1419270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaggcccatgccctcgctCtgcagccaggtgtagggggg	5	7	17	12	1	1	0	0	0	1	0	2	0	1	0	3	6	3	4	3	6	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1030G>A	p.Glu344Lys	p.E344K	ENST00000537107	4/4	321	259	62	348	348	0	strelka-varscan-mutect	ANKRD65,missense_variant,p.Glu344Lys,ENST00000537107,NM_001145210.2;ANKRD65,missense_variant,p.Glu344Lys,ENST00000454272,;ANKRD65,synonymous_variant,p.=,ENST00000427211,NM_001243535.1;ANKRD65,synonymous_variant,p.=,ENST00000442470,;ANKRD65,3_prime_UTR_variant,,ENST00000520296,NM_001243536.1;RP4-758J18.7,upstream_gene_variant,,ENST00000428932,;	T	ENST00000537107	Transcript	missense_variant	1342/2190	1030/1200	344/399	E/K	Gag/Aag		1		-1	ANKRD65	HGNC	HGNC:42950	protein_coding	YES	CCDS55558.1	ENSP00000445688	E5RJM6		UPI000058F1BA	NM_001145210.2	deleterious(0.01)		4/4		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF25,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	46	1419270	1419270	C	T	1	0	0	0	0	1	0	0	0	790	922	32	3		3	ANKRD65	1	1419270	Missense_Mutation	SNP	C	C3N-00294_TP	17028	1419270	247537152	5	13507											
ACTRT2	0	.	GRCh38	chr1	3021986	3021986	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgagtgggagctaggcgtGaaacccagcgaccagcccct	9	7	13	12	2	0	2	0	2	0	0	0	4	0	3	4	2	4	1	4	2	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.300G>A	p.=	p.V100V	ENST00000378404	1/1	311	249	62	387	387	0	strelka-varscan-mutect	ACTRT2,synonymous_variant,p.=,ENST00000378404,NM_080431.4;	A	ENST00000378404	Transcript	synonymous_variant	504/1421	300/1134	100/377	V	gtG/gtA		1		1	ACTRT2	HGNC	HGNC:24026	protein_coding	YES	CCDS45.1	ENSP00000367658	Q8TDY3		UPI0000070494	NM_080431.4			1/1		Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF38,SMART_domains:SM00268,Superfamily_domains:SSF53067																	LOW	1	SNV				1										PASS		.	.												A	2	1	46	3021986	3021986	G	A	1	0	0	0	0	0	0	0	1	262	1277	45	3		3	ACTRT2	1	3021986	Silent	SNP	G	C3N-00294_TP	1602716	3021986	245934436	6	13508											
NPHP4	0	.	GRCh38	chr1	5986226	5986226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattccttccaaggctggcGcgctctctgtgggtggggag	4	10	17	10	2	1	0	0	0	1	0	4	2	3	2	2	6	0	2	2	6	1	2	rs773309269		C3N-00294_TP	C3N-00294_NB	G	G																c.64C>T	p.Arg22Cys	p.R22C	ENST00000378156	2/30	271	209	62	279	279	0	strelka-varscan-mutect	NPHP4,missense_variant,p.Arg22Cys,ENST00000378156,NM_001291594.1,NM_001291593.1,NM_015102.4;NPHP4,missense_variant,p.Arg22Cys,ENST00000622020,;NPHP4,intron_variant,,ENST00000478423,;NPHP4,missense_variant,p.Arg22Cys,ENST00000489180,;NPHP4,missense_variant,p.Arg22Cys,ENST00000378169,;	A	ENST00000378156	Transcript	missense_variant	330/4994	64/4281	22/1426	R/C	Cgc/Tgc	rs773309269,COSM911210	1		-1	NPHP4	HGNC	HGNC:19104	protein_coding	YES	CCDS44052.1	ENSP00000367398	O75161		UPI00001303E5	NM_001291594.1,NM_001291593.1,NM_015102.4	deleterious(0)		2/30		hmmpanther:PTHR31043,hmmpanther:PTHR31043:SF3											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs773309269	.												A	3	1	46	5986226	5986226	G	A	1	0	0	0	0	1	0	0	0	10629	1087	38	1		1	NPHP4	1	5986226	Missense_Mutation	SNP	G	C3N-00294_TP	2964240	5986226	242970196	7	13509											
ZBTB48	0	.	GRCh38	chr1	6582218	6582218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgagcctgctgagaacaGaaaaggtacagcggtgccgg	12	5	15	9	2	0	3	0	2	0	2	0	4	0	3	2	3	7	3	2	3	4	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.851G>C	p.Arg284Thr	p.R284T	ENST00000377674	3/11	230	189	41	251	251	0	strelka-varscan-mutect	ZBTB48,missense_variant,p.Arg284Thr,ENST00000377674,NM_005341.3,NM_001278647.1,NM_001278648.1;ZBTB48,missense_variant,p.Arg284Thr,ENST00000319084,;ZBTB48,missense_variant,p.Arg284Thr,ENST00000435905,;ZBTB48,missense_variant,p.Arg39Thr,ENST00000488936,;TAS1R1,downstream_gene_variant,,ENST00000333172,NM_138697.3;TAS1R1,downstream_gene_variant,,ENST00000351136,NM_177540.2;TAS1R1,downstream_gene_variant,,ENST00000411823,;TAS1R1,downstream_gene_variant,,ENST00000415267,;ZBTB48,upstream_gene_variant,,ENST00000482360,;ZBTB48,upstream_gene_variant,,ENST00000498342,;	C	ENST00000377674	Transcript	missense_variant	1009/2293	851/2067	284/688	R/T	aGa/aCa		1		1	ZBTB48	HGNC	HGNC:4930	protein_coding	YES	CCDS84.1	ENSP00000366902	P10074		UPI000012C932	NM_005341.3,NM_001278647.1,NM_001278648.1	deleterious(0.01)		3/11		hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	6582218	6582218	G	C	1	0	0	0	0	1	0	0	0	18119	942	33	4		4	ZBTB48	1	6582218	Missense_Mutation	SNP	G	C3N-00294_TP	595992	6582218	242374204	8	13510											
KLHL21	0	.	GRCh38	chr1	6599198	6599198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccagggagccgatggCatagagccggccacggcacg	9	2	16	14	4	0	1	0	0	0	1	0	3	0	2	5	4	3	2	5	4	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1276G>T	p.Ala426Ser	p.A426S	ENST00000377658	2/4	197	151	46	216	216	0	strelka-varscan-mutect	KLHL21,missense_variant,p.Ala426Ser,ENST00000377663,;KLHL21,missense_variant,p.Ala426Ser,ENST00000377658,NM_014851.3;KLHL21,missense_variant,p.Ala59Ser,ENST00000467612,;KLHL21,missense_variant,p.Ala59Ser,ENST00000496707,;KLHL21,missense_variant,p.Ala59Ser,ENST00000463043,;KLHL21,intron_variant,,ENST00000610898,;	A	ENST00000377658	Transcript	missense_variant	1328/4487	1276/1794	426/597	A/S	Gcc/Tcc		1		-1	KLHL21	HGNC	HGNC:29041	protein_coding	YES	CCDS30575.1	ENSP00000366886	Q9UJP4		UPI0000070D85	NM_014851.3	deleterious(0.04)		2/4		Superfamily_domains:0052715,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF255																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	6599198	6599198	C	A	1	0	0	0	0	1	0	0	0	8240	710	25	2		2	KLHL21	1	6599198	Missense_Mutation	SNP	C	C3N-00294_TP	16980	6599198	242357224	9	13511											
SLC25A33	0	.	GRCh38	chr1	9579957	9579957	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtctcttttatgcagagtGaggggctctaagcagatgaa	10	12	13	6	0	2	4	0	2	2	2	3	4	2	4	0	3	2	3	0	3	3	3	rs373446607		C3N-00294_TP	C3N-00294_NB	G	G																c.486G>C	p.=	p.V162V	ENST00000302692	6/7	75	52	23	85	85	0	strelka-varscan-mutect	SLC25A33,synonymous_variant,p.=,ENST00000302692,NM_032315.2;RP13-15M17.1,downstream_gene_variant,,ENST00000435277,;	C	ENST00000302692	Transcript	synonymous_variant	696/3854	486/966	162/321	V	gtG/gtC	rs373446607	1		1	SLC25A33	HGNC	HGNC:29681	protein_coding	YES	CCDS103.1	ENSP00000306328	Q9BSK2		UPI000004D33B	NM_032315.2			6/7		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF263																	LOW	1	SNV	1			1										PASS		rs373446607	.												C	2	2	46	9579957	9579957	G	C	1	0	0	0	0	0	0	0	1	14762	1304	45	4		4	SLC25A33	1	9579957	Silent	SNP	G	C3N-00294_TP	2980759	9579957	239376465	10	13512											
UBE4B	0	.	GRCh38	chr1	10122025	10122025	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaatctcccatatggcttCattcaggaactggtgagaac	12	10	10	9	0	3	1	2	1	1	1	4	4	3	3	1	4	2	1	1	4	4	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1503C>T	p.=	p.F501F	ENST00000343090	10/28	155	125	30	134	134	0	strelka-varscan-mutect	UBE4B,synonymous_variant,p.=,ENST00000343090,NM_001105562.2;UBE4B,synonymous_variant,p.=,ENST00000253251,NM_006048.4;UBE4B,upstream_gene_variant,,ENST00000470736,;UBE4B,non_coding_transcript_exon_variant,,ENST00000475795,;	T	ENST00000343090	Transcript	synonymous_variant	1578/5267	1503/3909	501/1302	F	ttC/ttT		1		1	UBE4B	HGNC	HGNC:12500	protein_coding	YES	CCDS41245.1	ENSP00000343001	O95155		UPI0000137944	NM_001105562.2			10/28		hmmpanther:PTHR13931,hmmpanther:PTHR13931:SF14																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	10122025	10122025	C	T	1	0	0	0	0	0	0	0	1	17407	825	29	3		3	UBE4B	1	10122025	Silent	SNP	C	C3N-00294_TP	542068	10122025	238834397	11	13513											
VPS13D	0	.	GRCh38	chr1	12277748	12277748	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgaatcaccagttgtttCtatccctcggaagccgggga	9	11	10	11	2	2	1	1	1	1	0	4	3	3	3	3	3	1	2	3	3	3	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.4160C>G	p.Ser1387Cys	p.S1387C	ENST00000620676	19/70	160	132	28	202	202	0	strelka-varscan-mutect	VPS13D,missense_variant,p.Ser1387Cys,ENST00000620676,NM_015378.3;VPS13D,missense_variant,p.Ser1387Cys,ENST00000613099,NM_018156.3;VPS13D,missense_variant,p.Ser210Cys,ENST00000011700,;	G	ENST00000620676	Transcript	missense_variant	4290/16320	4160/13167	1387/4388	S/C	tCt/tGt		1		1	VPS13D	HGNC	HGNC:23595	protein_coding	YES	CCDS30588.1	ENSP00000478104	Q5THJ4		UPI0000451CA9	NM_015378.3	tolerated(0.07)		19/70																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	12277748	12277748	C	G	1	0	0	0	0	1	0	0	0	17739	913	32	4		4	VPS13D	1	12277748	Missense_Mutation	SNP	C	C3N-00294_TP	2155723	12277748	236678674	12	13514											
VPS13D	0	.	GRCh38	chr1	12506959	12506959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgagaagccattttcctaGaagtcaaatacgatgacctc	14	10	7	10	2	1	3	1	1	0	2	4	5	2	3	3	0	2	0	3	0	5	4			C3N-00294_TP	C3N-00294_NB	G	G																c.12901G>A	p.Glu4301Lys	p.E4301K	ENST00000620676	69/70	337	264	73	352	352	0	strelka-varscan-mutect	VPS13D,missense_variant,p.Glu4301Lys,ENST00000620676,NM_015378.3;VPS13D,missense_variant,p.Glu4276Lys,ENST00000613099,NM_018156.3;VPS13D,missense_variant,p.Glu3123Lys,ENST00000011700,;VPS13D,5_prime_UTR_variant,,ENST00000543766,;SNORA59A,upstream_gene_variant,,ENST00000459326,;VPS13D,non_coding_transcript_exon_variant,,ENST00000543710,;VPS13D,downstream_gene_variant,,ENST00000473099,;	A	ENST00000620676	Transcript	missense_variant	13031/16320	12901/13167	4301/4388	E/K	Gaa/Aaa	COSM3769887	1		1	VPS13D	HGNC	HGNC:23595	protein_coding	YES	CCDS30588.1	ENSP00000478104	Q5THJ4		UPI0000451CA9	NM_015378.3	deleterious(0.01)		69/70		hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF104											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	46	12506959	12506959	G	A	1	0	0	0	0	1	0	0	0	17739	943	33	3		3	VPS13D	1	12506959	Missense_Mutation	SNP	G	C3N-00294_TP	229211	12506959	236449463	13	13515											
PRAMEF20	0	.	GRCh38	chr1	13421205	13421205	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtaccgactactgccctCagtgtggcaacaggtcactt	8	11	9	13	1	3	0	2	0	1	0	3	1	3	0	2	2	4	2	2	2	3	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1375C>T	p.Gln459Ter	p.Q459*	ENST00000316412	4/4	541	482	59	555	555	0	strelka-varscan-mutect	PRAMEF20,stop_gained,p.Gln459Ter,ENST00000316412,NM_001099852.2;PRAMEF20,stop_gained,p.Gln459Ter,ENST00000602960,;	T	ENST00000316412	Transcript	stop_gained	1474/1597	1375/1428	459/475	Q/*	Cag/Tag		1		1	PRAMEF20	HGNC	HGNC:25224	protein_coding	YES	CCDS41265.1	ENSP00000346275	Q5VT98		UPI0004423C14	NM_001099852.2			4/4		PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF19																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	46	13421205	13421205	C	T	1	0	0	0	0	0	1	0	0	12563	827	29	3		3	PRAMEF20	1	13421205	Nonsense_Mutation	SNP	C	C3N-00294_TP	914246	13421205	235535217	14	13516											
SLC25A34	0	.	GRCh38	chr1	15736575	15736575	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaaccccctggaggtggtGaagacgcggctgcagctgca	9	5	14	13	2	0	2	0	1	0	1	0	3	0	3	3	4	4	4	3	4	2	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.90G>A	p.=	p.V30V	ENST00000294454	1/5	51	39	12	45	45	0	strelka-varscan-mutect	SLC25A34,synonymous_variant,p.=,ENST00000294454,NM_207348.2;PLEKHM2,downstream_gene_variant,,ENST00000375799,NM_015164.2;PLEKHM2,downstream_gene_variant,,ENST00000375793,;RP11-288I21.1,intron_variant,,ENST00000453804,;RP11-288I21.1,upstream_gene_variant,,ENST00000615472,;RP11-288I21.1,upstream_gene_variant,,ENST00000623689,;RP11-169K16.4,downstream_gene_variant,,ENST00000418525,;PLEKHM2,downstream_gene_variant,,ENST00000477849,;SLC25A34,upstream_gene_variant,,ENST00000489568,;SLC25A34,upstream_gene_variant,,ENST00000465495,;	A	ENST00000294454	Transcript	synonymous_variant	171/2986	90/915	30/304	V	gtG/gtA		1		1	SLC25A34	HGNC	HGNC:27653	protein_coding	YES	CCDS162.1	ENSP00000294454	Q6PIV7		UPI00001A7D46	NM_207348.2			1/5		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF95,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	15736575	15736575	G	A	1	0	0	0	0	0	0	0	1	14763	1277	45	3		3	SLC25A34	1	15736575	Silent	SNP	G	C3N-00294_TP	2315370	15736575	233219847	15	13517											
ARHGEF19	0	.	GRCh38	chr1	16207121	16207121	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cggcccctcctctgcgccctCggcctcgtcccccgggccct	0	7	10	24	5	1	0	0	0	1	0	5	0	3	0	8	3	1	0	8	3	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.964G>C	p.Glu322Gln	p.E322Q	ENST00000270747	6/16	104	81	23	93	93	0	strelka-varscan-mutect	ARHGEF19,missense_variant,p.Glu322Gln,ENST00000270747,NM_153213.3;ARHGEF19,upstream_gene_variant,,ENST00000449495,;ARHGEF19,upstream_gene_variant,,ENST00000441785,;ARHGEF19,upstream_gene_variant,,ENST00000478117,;ARHGEF19,upstream_gene_variant,,ENST00000478210,;ARHGEF19,upstream_gene_variant,,ENST00000471928,;	G	ENST00000270747	Transcript	missense_variant	1101/3029	964/2409	322/802	E/Q	Gag/Cag		1		-1	ARHGEF19	HGNC	HGNC:26604	protein_coding	YES	CCDS170.1	ENSP00000270747	Q8IW93		UPI0000074533	NM_153213.3	tolerated(0.17)		6/16		Low_complexity_(Seg):seg,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	16207121	16207121	C	G	1	0	0	0	0	1	0	0	0	1032	893	31	4		4	ARHGEF19	1	16207121	Missense_Mutation	SNP	C	C3N-00294_TP	470546	16207121	232749301	16	13518											
PAX7	0	.	GRCh38	chr1	18703171	18703171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggctggctgcagcggctGcagccgccgacaccagctct	5	5	15	16	4	1	0	0	0	1	0	1	1	1	0	3	3	5	6	3	3	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1030G>A	p.Ala344Thr	p.A344T	ENST00000375375	7/8	328	259	69	349	349	0	strelka-varscan-mutect	PAX7,missense_variant,p.Ala344Thr,ENST00000420770,NM_001135254.1;PAX7,missense_variant,p.Ala344Thr,ENST00000375375,NM_002584.2;PAX7,missense_variant,p.Ala342Thr,ENST00000400661,NM_013945.2;	A	ENST00000375375	Transcript	missense_variant	1628/2260	1030/1563	344/520	A/T	Gca/Aca		1		1	PAX7	HGNC	HGNC:8621	protein_coding	YES	CCDS186.1	ENSP00000364524	P23759		UPI000004A132	NM_002584.2	tolerated(0.16)		7/8		Low_complexity_(Seg):seg,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF248																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	18703171	18703171	G	A	1	0	0	0	0	1	0	0	0	11569	1319	46	3		3	PAX7	1	18703171	Missense_Mutation	SNP	G	C3N-00294_TP	2496050	18703171	230253251	17	13519											
OTUD3	0	.	GRCh38	chr1	19906539	19906539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggaaatcagggcttaaatGaaggcaggaccgaaaacaat	17	7	11	6	1	1	1	1	1	0	0	1	4	1	3	1	4	1	2	1	4	7	2	rs763007582		C3N-00294_TP	C3N-00294_NB	G	G																c.943G>A	p.Glu315Lys	p.E315K	ENST00000375120	7/8	178	140	38	210	210	0	strelka-varscan-mutect	OTUD3,missense_variant,p.Glu315Lys,ENST00000375120,NM_015207.1;OTUD3,upstream_gene_variant,,ENST00000481686,;	A	ENST00000375120	Transcript	missense_variant	944/6397	943/1197	315/398	E/K	Gaa/Aaa	rs763007582	1		1	OTUD3	HGNC	HGNC:29038	protein_coding	YES	CCDS41279.1	ENSP00000364261	Q5T2D3		UPI000004DB04	NM_015207.1	tolerated(0.19)		7/8		hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF7																	MODERATE	1	SNV	1			1										PASS		rs763007582	.												A	3	1	46	19906539	19906539	G	A	1	0	0	0	0	1	0	0	0	11382	1291	45	3		3	OTUD3	1	19906539	Missense_Mutation	SNP	G	C3N-00294_TP	1203368	19906539	229049883	18	13520											
PINK1	0	.	GRCh38	chr1	20649062	20649062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggctgatgcctgggcagtggGagccatcgcctatgaaatct	8	9	14	10	1	1	2	0	2	1	0	2	3	1	3	3	3	2	2	3	3	2	1	rs45467995		C3N-00294_TP	C3N-00294_NB	G	G																c.1319G>C	p.Gly440Ala	p.G440A	ENST00000321556	7/8	354	283	71	322	322	0	strelka-varscan-mutect	PINK1,missense_variant,p.Gly440Ala,ENST00000321556,NM_032409.2;DDOST,downstream_gene_variant,,ENST00000415136,NM_005216.4;DDOST,downstream_gene_variant,,ENST00000375048,;DDOST,downstream_gene_variant,,ENST00000602624,;PINK1-AS,non_coding_transcript_exon_variant,,ENST00000451424,;PINK1,non_coding_transcript_exon_variant,,ENST00000492302,;PINK1,non_coding_transcript_exon_variant,,ENST00000400490,;DDOST,downstream_gene_variant,,ENST00000475210,;	C	ENST00000321556	Transcript	missense_variant	1413/2660	1319/1746	440/581	G/A	gGa/gCa	rs45467995,CM085640	1		1	PINK1	HGNC	HGNC:14581	protein_coding	YES	CCDS211.1	ENSP00000364204	Q9BXM7		UPI0000035BA9	NM_032409.2	deleterious(0)		7/8		PROSITE_profiles:PS50011,hmmpanther:PTHR22972,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1		0,1	1										PASS		rs45467995	.												C	3	2	46	20649062	20649062	G	C	1	0	0	0	0	1	0	0	0	12027	1174	41	4		4	PINK1	1	20649062	Missense_Mutation	SNP	G	C3N-00294_TP	742523	20649062	228307360	19	13521											
NBPF3	0	.	GRCh38	chr1	21478271	21478271	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagcacctttcactcagtaGaggaacagcaagtcggcttg	11	8	12	10	1	2	1	2	0	0	1	3	3	2	3	1	3	3	4	1	3	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1120G>C	p.Glu374Gln	p.E374Q	ENST00000318249	9/15	305	241	64	290	289	1	strelka-varscan-mutect	NBPF3,missense_variant,p.Glu374Gln,ENST00000318249,NM_032264.4;NBPF3,missense_variant,p.Glu304Gln,ENST00000454000,NM_001256417.2;NBPF3,missense_variant,p.Glu318Gln,ENST00000619554,;NBPF3,intron_variant,,ENST00000342104,NM_001256416.2;NBPF3,intron_variant,,ENST00000469876,;NBPF3,intron_variant,,ENST00000477050,;NBPF3,3_prime_UTR_variant,,ENST00000318220,;NBPF3,3_prime_UTR_variant,,ENST00000434838,;	C	ENST00000318249	Transcript	missense_variant	1295/3591	1120/1902	374/633	E/Q	Gag/Cag		1		1	NBPF3	HGNC	HGNC:25076	protein_coding	YES	CCDS216.1	ENSP00000316782	Q9H094		UPI0000037D6C	NM_032264.4	deleterious(0.03)		9/15		PROSITE_profiles:PS51316,hmmpanther:PTHR14199:SF18,hmmpanther:PTHR14199,Pfam_domain:PF06758,SMART_domains:SM01148																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	21478271	21478271	G	C	1	0	0	0	0	1	0	0	0	10212	943	33	4		4	NBPF3	1	21478271	Missense_Mutation	SNP	G	C3N-00294_TP	829209	21478271	227478151	20	13522											
ARID1A	0	.	GRCh38	chr1	26697205	26697205	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtcgtcttcgtccttcgctCagcagcgcttcggggccatg	3	11	12	15	6	2	0	1	0	1	0	7	0	3	0	2	2	2	3	2	2	0	3			C3N-00294_TP	C3N-00294_NB	C	C																c.802C>T	p.Gln268Ter	p.Q268*	ENST00000324856	1/20	25	18	7	39	39	0	strelka-varscan-mutect	ARID1A,stop_gained,p.Gln268Ter,ENST00000324856,NM_006015.4;ARID1A,stop_gained,p.Gln268Ter,ENST00000457599,NM_139135.2;ARID1A,intron_variant,,ENST00000430799,;ARID1A,intron_variant,,ENST00000637465,;RP5-968P14.2,upstream_gene_variant,,ENST00000569378,;	T	ENST00000324856	Transcript	stop_gained	1173/8577	802/6858	268/2285	Q/*	Cag/Tag	COSM126559	1		1	ARID1A	HGNC	HGNC:11110	protein_coding	YES	CCDS285.1	ENSP00000320485	O14497		UPI0000167B91	NM_006015.4			1/20		hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	46	26697205	26697205	C	T	1	0	0	0	0	0	1	0	0	1049	827	29	3		3	ARID1A	1	26697205	Nonsense_Mutation	SNP	C	C3N-00294_TP	5218934	26697205	222259217	21	13523											
ARID1A	0	.	GRCh38	chr1	26729830	26729830	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatgcagggccgggcgcaGagtgccatgggcggcctctc	6	5	16	14	3	1	1	0	0	1	1	2	1	1	1	4	4	2	2	4	4	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1317G>A	p.=	p.Q439Q	ENST00000324856	2/20	260	199	61	265	265	0	strelka-varscan-mutect	ARID1A,synonymous_variant,p.=,ENST00000324856,NM_006015.4;ARID1A,synonymous_variant,p.=,ENST00000636219,;ARID1A,synonymous_variant,p.=,ENST00000430799,;ARID1A,synonymous_variant,p.=,ENST00000374152,;ARID1A,synonymous_variant,p.=,ENST00000457599,NM_139135.2;ARID1A,synonymous_variant,p.=,ENST00000615191,;ARID1A,synonymous_variant,p.=,ENST00000637465,;ARID1A,synonymous_variant,p.=,ENST00000524572,;	A	ENST00000324856	Transcript	synonymous_variant	1688/8577	1317/6858	439/2285	Q	caG/caA		1		1	ARID1A	HGNC	HGNC:11110	protein_coding	YES	CCDS285.1	ENSP00000320485	O14497		UPI0000167B91	NM_006015.4			2/20		hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	26729830	26729830	G	A	1	0	0	0	0	0	0	0	1	1049	933	33	3		3	ARID1A	1	26729830	Silent	SNP	G	C3N-00294_TP	32625	26729830	222226592	22	13524											
ARID1A	0	.	GRCh38	chr1	26771307	26771307	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaagaagtcccagcccaaGatccagcctccctctcctgg	9	7	7	18	0	1	2	0	0	1	2	6	2	5	2	7	1	2	0	7	1	3	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3387G>C	p.Lys1129Asn	p.K1129N	ENST00000324856	12/20	217	171	46	192	192	0	strelka-varscan-mutect	ARID1A,missense_variant,p.Lys1129Asn,ENST00000324856,NM_006015.4;ARID1A,missense_variant,p.Lys748Asn,ENST00000636219,;ARID1A,missense_variant,p.Lys746Asn,ENST00000430799,;ARID1A,missense_variant,p.Lys746Asn,ENST00000374152,;ARID1A,missense_variant,p.Lys1129Asn,ENST00000457599,NM_139135.2;ARID1A,missense_variant,p.Lys745Asn,ENST00000615191,;ARID1A,upstream_gene_variant,,ENST00000636794,;ARID1A,non_coding_transcript_exon_variant,,ENST00000636110,;ARID1A,upstream_gene_variant,,ENST00000466382,;ARID1A,upstream_gene_variant,,ENST00000532781,;ARID1A,upstream_gene_variant,,ENST00000636072,;ARID1A,downstream_gene_variant,,ENST00000430291,;	C	ENST00000324856	Transcript	missense_variant	3758/8577	3387/6858	1129/2285	K/N	aaG/aaC		1		1	ARID1A	HGNC	HGNC:11110	protein_coding	YES	CCDS285.1	ENSP00000320485	O14497		UPI0000167B91	NM_006015.4	deleterious(0.01)		12/20		Low_complexity_(Seg):seg,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	26771307	26771307	G	C	1	0	0	0	0	1	0	0	0	1049	933	33	4		4	ARID1A	1	26771307	Missense_Mutation	SNP	G	C3N-00294_TP	41477	26771307	222185115	23	13525											
S100PBP	0	.	GRCh38	chr1	32855931	32855931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctcgatagaaactacGcccgccgacagaaacatctg	12	7	7	15	4	2	2	0	0	2	2	4	4	2	2	3	0	3	0	3	0	4	2	rs778880970		C3N-00294_TP	C3N-00294_NB	G	G																c.1120G>T	p.Ala374Ser	p.A374S	ENST00000373475	7/7	150	78	72	145	145	0	strelka-varscan-mutect	S100PBP,missense_variant,p.Ala374Ser,ENST00000373475,NM_022753.3;S100PBP,missense_variant,p.Ala374Ser,ENST00000373476,NM_001256121.1;S100PBP,non_coding_transcript_exon_variant,,ENST00000527692,;S100PBP,non_coding_transcript_exon_variant,,ENST00000524535,;S100PBP,non_coding_transcript_exon_variant,,ENST00000525203,;S100PBP,non_coding_transcript_exon_variant,,ENST00000475486,;	T	ENST00000373475	Transcript	missense_variant	1374/4322	1120/1227	374/408	A/S	Gcc/Tcc	rs778880970	1		1	S100PBP	HGNC	HGNC:25768	protein_coding	YES	CCDS30666.1	ENSP00000362574	Q96BU1	A0A0S2Z5M0	UPI0000070449	NM_022753.3	tolerated(0.17)		7/7		hmmpanther:PTHR14455,hmmpanther:PTHR14455:SF0,Pfam_domain:PF15427																	MODERATE	1	SNV	1			1										PASS		rs778880970	.												T	3	4	46	32855931	32855931	G	T	1	0	0	0	0	1	0	0	0	14050	1087	38	1		1	S100PBP	1	32855931	Missense_Mutation	SNP	G	C3N-00294_TP	6084624	32855931	216100491	24	13526											
CLSPN	0	.	GRCh38	chr1	35749685	35749685	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaagtagaatctgatgagaGagacttgggaacagagagga	17	7	14	3	0	1	5	0	2	1	4	1	10	1	7	0	2	1	1	0	2	5	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2155C>G	p.Leu719Val	p.L719V	ENST00000318121	11/25	207	162	45	244	244	0	strelka-varscan-mutect	CLSPN,missense_variant,p.Leu719Val,ENST00000251195,;CLSPN,missense_variant,p.Leu719Val,ENST00000318121,NM_022111.3;CLSPN,missense_variant,p.Leu655Val,ENST00000373220,NM_001190481.1;CLSPN,intron_variant,,ENST00000520551,;CLSPN,upstream_gene_variant,,ENST00000517467,;	C	ENST00000318121	Transcript	missense_variant	2213/4169	2155/4020	719/1339	L/V	Ctc/Gtc		1		-1	CLSPN	HGNC	HGNC:19715	protein_coding	YES	CCDS396.1	ENSP00000312995	Q9HAW4		UPI0000161087	NM_022111.3	tolerated(1)		11/25		hmmpanther:PTHR14396:SF10,hmmpanther:PTHR14396																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	35749685	35749685	G	C	1	0	0	0	0	1	0	0	0	3332	942	33	4		4	CLSPN	1	35749685	Missense_Mutation	SNP	G	C3N-00294_TP	2893754	35749685	213206737	25	13527											
SH3D21	0	.	GRCh38	chr1	36319707	36319707	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcccggtaaaggccccCtctgtgaagagaacccccat	11	5	10	15	1	1	2	0	1	1	1	1	3	1	2	5	2	3	2	5	2	4	1	rs377064888		C3N-00294_TP	C3N-00294_NB	C	C																c.711C>A	p.=	p.P237P	ENST00000505871	11/13	32	13	19	39	39	0	strelka-varscan-mutect	SH3D21,synonymous_variant,p.=,ENST00000453908,NM_001162530.1;SH3D21,synonymous_variant,p.=,ENST00000505871,NM_024676.4;SH3D21,synonymous_variant,p.=,ENST00000373139,;EVA1B,downstream_gene_variant,,ENST00000270824,NM_018166.2,NM_001304762.1;RP11-268J15.5,upstream_gene_variant,,ENST00000373137,;SH3D21,non_coding_transcript_exon_variant,,ENST00000508854,;SH3D21,upstream_gene_variant,,ENST00000474766,;EVA1B,downstream_gene_variant,,ENST00000490466,;SH3D21,3_prime_UTR_variant,,ENST00000480549,;	A	ENST00000505871	Transcript	synonymous_variant	875/2206	711/1938	237/645	P	ccC/ccA	rs377064888	1		1	SH3D21	HGNC	HGNC:26236	protein_coding	YES	CCDS30674.2	ENSP00000421294	A4FU49		UPI00017A7573	NM_024676.4			11/13		hmmpanther:PTHR14167,hmmpanther:PTHR14167:SF28																	LOW		SNV	2			1										PASS		rs377064888	.												A	2	1	46	36319707	36319707	C	A	1	0	0	0	0	0	0	0	1	14508	668	24	2		2	SH3D21	1	36319707	Silent	SNP	C	C3N-00294_TP	570022	36319707	212636715	26	13528											
LSM10	0	.	GRCh38	chr1	36393914	36393914	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acattgcggcctgtcacaaaGaggtcatccagcttgacctg	10	9	10	12	1	2	2	2	1	0	1	3	2	3	2	3	2	2	1	3	2	1	2	rs774877232		C3N-00294_TP	C3N-00294_NB	G	G																c.216C>G	p.=	p.L72L	ENST00000315732	2/2	331	277	54	370	370	0	strelka-varscan-mutect	LSM10,synonymous_variant,p.=,ENST00000315732,NM_032881.2;LSM10,non_coding_transcript_exon_variant,,ENST00000476041,;LSM10,downstream_gene_variant,,ENST00000489912,;	C	ENST00000315732	Transcript	synonymous_variant	366/850	216/372	72/123	L	ctC/ctG	rs774877232,COSM414458	1		-1	LSM10	HGNC	HGNC:17562	protein_coding	YES	CCDS408.1	ENSP00000319341	Q969L4		UPI000012E96D	NM_032881.2			2/2		Gene3D:2.30.30.100,Pfam_domain:PF01423,hmmpanther:PTHR21196,hmmpanther:PTHR21196:SF1,SMART_domains:SM00651,Superfamily_domains:SSF50182											0,1						LOW	1	SNV	1		0,1	1										PASS		rs774877232	.												C	2	2	46	36393914	36393914	G	C	1	0	0	0	0	0	0	0	1	8957	929	33	4		4	LSM10	1	36393914	Silent	SNP	G	C3N-00294_TP	74207	36393914	212562508	27	13529											
MTF1	0	.	GRCh38	chr1	37823774	37823774	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaacattgattcaaagatGattgctggtgaaattgtgct	12	14	11	4	0	1	4	1	3	0	1	1	5	1	5	0	2	3	2	0	2	3	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1107C>G	p.Ile369Met	p.I369M	ENST00000373036	8/11	215	180	35	218	218	0	strelka-varscan-mutect	MTF1,missense_variant,p.Ile369Met,ENST00000373036,NM_005955.2;	C	ENST00000373036	Transcript	missense_variant	1248/7972	1107/2262	369/753	I/M	atC/atG		1		-1	MTF1	HGNC	HGNC:7428	protein_coding	YES	CCDS30676.1	ENSP00000362127	Q14872		UPI000006E9B3	NM_005955.2	tolerated(0.11)		8/11																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	37823774	37823774	G	C	1	0	0	0	0	1	0	0	0	9907	1280	45	4		4	MTF1	1	37823774	Missense_Mutation	SNP	G	C3N-00294_TP	1429860	37823774	211132648	28	13530											
RLF	0	.	GRCh38	chr1	40239668	40239668	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcagaaagggtgcataGaaagcagctcagtatttgat	14	9	13	5	0	2	3	2	1	0	2	2	4	2	3	0	2	3	4	0	2	4	3	rs758862202		C3N-00294_TP	C3N-00294_NB	G	G																c.4966G>T	p.Glu1656Ter	p.E1656*	ENST00000372771	8/8	204	171	33	227	227	0	strelka-varscan-mutect	RLF,stop_gained,p.Glu1656Ter,ENST00000372771,NM_012421.3;	T	ENST00000372771	Transcript	stop_gained	4993/6246	4966/5745	1656/1914	E/*	Gaa/Taa	rs758862202	1		1	RLF	HGNC	HGNC:10025	protein_coding	YES	CCDS448.1	ENSP00000361857	Q13129		UPI000013C9DA	NM_012421.3			8/8		hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF18																	HIGH	1	SNV	1			1										PASS		rs758862202	.												T	4	4	46	40239668	40239668	G	T	1	0	0	0	0	0	1	0	0	13565	943	33	2		2	RLF	1	40239668	Nonsense_Mutation	SNP	G	C3N-00294_TP	2415894	40239668	208716754	29	13531											
ERMAP	0	.	GRCh38	chr1	42843118	42843118	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctaatggagatgtgtccctCaaggtgaactcttctttact	9	14	9	9	0	3	2	1	1	2	1	4	3	4	2	1	2	2	1	1	2	4	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1314C>G	p.=	p.L438L	ENST00000372517	12/12	171	130	41	209	209	0	strelka-varscan-mutect	ERMAP,synonymous_variant,p.=,ENST00000328249,;ERMAP,synonymous_variant,p.=,ENST00000372517,NM_001017922.1;ERMAP,synonymous_variant,p.=,ENST00000372514,NM_018538.3;ZNF691,upstream_gene_variant,,ENST00000372504,;ZNF691,upstream_gene_variant,,ENST00000372502,NM_001242739.1;ZNF691,upstream_gene_variant,,ENST00000372506,;ZNF691,upstream_gene_variant,,ENST00000372507,;ZNF691,upstream_gene_variant,,ENST00000372508,NM_015911.3;RP11-342M1.3,intron_variant,,ENST00000416809,;RP11-342M1.3,intron_variant,,ENST00000444563,;RP11-342M1.3,intron_variant,,ENST00000425076,;RP11-342M1.3,intron_variant,,ENST00000414798,;ERMAP,non_coding_transcript_exon_variant,,ENST00000487556,;	G	ENST00000372517	Transcript	synonymous_variant	1558/3423	1314/1428	438/475	L	ctC/ctG		1		1	ERMAP	HGNC	HGNC:15743	protein_coding	YES	CCDS475.1	ENSP00000361595	Q96PL5		UPI000007000D	NM_001017922.1			12/12																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	46	42843118	42843118	C	G	1	0	0	0	0	0	0	0	1	5091	813	29	4		4	ERMAP	1	42843118	Silent	SNP	C	C3N-00294_TP	2603450	42843118	206113304	30	13532											
SZT2	0	.	GRCh38	chr1	43440468	43440468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacaggaagtctcaggaacgGatcgttggaaactaagagct	14	7	12	8	2	1	1	1	0	1	1	3	5	1	5	0	4	3	2	0	4	4	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.7055G>A	p.Gly2352Glu	p.G2352E	ENST00000562955	51/71	57	46	11	48	48	0	strelka-varscan-mutect	SZT2,missense_variant,p.Gly2352Glu,ENST00000562955,NM_015284.3;SZT2,missense_variant,p.Gly2409Glu,ENST00000634258,;SZT2,downstream_gene_variant,,ENST00000471177,;SZT2,upstream_gene_variant,,ENST00000460536,;SZT2,downstream_gene_variant,,ENST00000470897,;	A	ENST00000562955	Transcript	missense_variant	7055/12281	7055/10128	2352/3375	G/E	gGa/gAa		1		1	SZT2	HGNC	HGNC:29040	protein_coding	YES	CCDS30694.2	ENSP00000457168	Q5T011		UPI0001E24F46	NM_015284.3	tolerated(0.57)		51/71		hmmpanther:PTHR14918																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	43440468	43440468	G	A	1	0	0	0	0	1	0	0	0	15883	1174	41	3		3	SZT2	1	43440468	Missense_Mutation	SNP	G	C3N-00294_TP	597350	43440468	205515954	31	13533											
PTCH2	0	.	GRCh38	chr1	44829921	44829921	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccctacctcagcagctctCcttgggggtctctggccatg	5	10	11	15	0	3	0	1	0	2	0	5	1	3	0	4	3	3	2	4	3	1	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.923G>T	p.Gly308Val	p.G308V	ENST00000372192	7/22	143	107	36	136	136	0	strelka-varscan-mutect	PTCH2,missense_variant,p.Gly308Val,ENST00000447098,NM_001166292.1;PTCH2,missense_variant,p.Gly308Val,ENST00000372192,NM_003738.4;	A	ENST00000372192	Transcript	missense_variant	1054/4225	923/3612	308/1203	G/V	gGa/gTa		1		-1	PTCH2	HGNC	HGNC:9586	protein_coding	YES	CCDS516.1	ENSP00000361266	Q9Y6C5		UPI00001328B8	NM_003738.4	deleterious(0)		7/22		hmmpanther:PTHR10796:SF62,hmmpanther:PTHR10796,TIGRFAM_domain:TIGR00918																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	44829921	44829921	C	A	1	0	0	0	0	1	0	0	0	12884	855	30	2		2	PTCH2	1	44829921	Missense_Mutation	SNP	C	C3N-00294_TP	1389453	44829921	204126501	32	13534											
TOE1	0	.	GRCh38	chr1	45343670	45343670	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcctccaaagcccacaatCagaagatgaagctcacttgg	13	8	8	12	0	2	3	2	1	0	2	4	3	4	3	3	1	2	2	3	1	4	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1501C>G	p.Gln501Glu	p.Q501E	ENST00000372090	8/8	85	67	18	93	93	0	strelka-varscan-mutect	TOE1,missense_variant,p.Gln501Glu,ENST00000372090,NM_025077.3;TESK2,downstream_gene_variant,,ENST00000372086,NM_007170.2;TESK2,downstream_gene_variant,,ENST00000372084,;MUTYH,upstream_gene_variant,,ENST00000450313,NM_001128425.1;MUTYH,upstream_gene_variant,,ENST00000372115,NM_001048171.1;MUTYH,upstream_gene_variant,,ENST00000372098,NM_012222.2;MUTYH,upstream_gene_variant,,ENST00000372104,NM_001293195.1;MUTYH,upstream_gene_variant,,ENST00000372110,NM_001293190.1;MUTYH,upstream_gene_variant,,ENST00000355498,NM_001293196.1,NM_001293192.1,NM_001048173.1;MUTYH,upstream_gene_variant,,ENST00000354383,NM_001048172.1;MUTYH,upstream_gene_variant,,ENST00000448481,NM_001293191.1;MUTYH,upstream_gene_variant,,ENST00000456914,NM_001048174.1;MUTYH,upstream_gene_variant,,ENST00000528013,;MUTYH,upstream_gene_variant,,ENST00000529984,;MUTYH,upstream_gene_variant,,ENST00000435155,;MUTYH,upstream_gene_variant,,ENST00000483127,;MUTYH,upstream_gene_variant,,ENST00000412971,;MUTYH,upstream_gene_variant,,ENST00000488731,;MUTYH,upstream_gene_variant,,ENST00000531105,;TOE1,non_coding_transcript_exon_variant,,ENST00000495703,;TESK2,downstream_gene_variant,,ENST00000486676,;TOE1,downstream_gene_variant,,ENST00000471337,;TOE1,downstream_gene_variant,,ENST00000477731,;TOE1,downstream_gene_variant,,ENST00000460057,;MUTYH,upstream_gene_variant,,ENST00000481571,;MUTYH,upstream_gene_variant,,ENST00000475516,;MUTYH,upstream_gene_variant,,ENST00000483642,;MUTYH,upstream_gene_variant,,ENST00000481139,;MUTYH,upstream_gene_variant,,ENST00000492494,;MUTYH,upstream_gene_variant,,ENST00000467940,;MUTYH,upstream_gene_variant,,ENST00000479746,;MUTYH,upstream_gene_variant,,ENST00000461495,;MUTYH,upstream_gene_variant,,ENST00000476789,;MUTYH,upstream_gene_variant,,ENST00000470256,;MUTYH,upstream_gene_variant,,ENST00000462387,;MUTYH,upstream_gene_variant,,ENST00000485484,;MUTYH,upstream_gene_variant,,ENST00000534453,;MUTYH,upstream_gene_variant,,ENST00000525160,;MUTYH,upstream_gene_variant,,ENST00000474703,;	G	ENST00000372090	Transcript	missense_variant	2084/2389	1501/1533	501/510	Q/E	Cag/Gag		1		1	TOE1	HGNC	HGNC:15954	protein_coding	YES	CCDS521.1	ENSP00000361162	Q96GM8		UPI00000382DE	NM_025077.3	tolerated(0.21)		8/8		hmmpanther:PTHR15092																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	45343670	45343670	C	G	1	0	0	0	0	1	0	0	0	16823	827	29	4		4	TOE1	1	45343670	Missense_Mutation	SNP	C	C3N-00294_TP	513749	45343670	203612752	33	13535											
NASP	0	.	GRCh38	chr1	45584179	45584179	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacagccactgccgccgtCgccgcggagctggtttctgc	4	8	12	17	5	1	0	0	0	1	0	3	1	2	1	5	2	4	2	5	2	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.33C>T	p.=	p.V11V	ENST00000350030	1/15	118	94	24	120	120	0	strelka-varscan-mutect	NASP,synonymous_variant,p.=,ENST00000350030,NM_002482.3;NASP,synonymous_variant,p.=,ENST00000537798,NM_001195193.1;NASP,synonymous_variant,p.=,ENST00000351223,NM_152298.3;NASP,synonymous_variant,p.=,ENST00000372052,;NASP,synonymous_variant,p.=,ENST00000470768,;NASP,synonymous_variant,p.=,ENST00000528238,;NASP,synonymous_variant,p.=,ENST00000437901,;NASP,synonymous_variant,p.=,ENST00000525515,;NASP,synonymous_variant,p.=,ENST00000527470,;NASP,synonymous_variant,p.=,ENST00000629893,;NASP,non_coding_transcript_exon_variant,,ENST00000534101,;NASP,synonymous_variant,p.=,ENST00000453748,;NASP,synonymous_variant,p.=,ENST00000437362,;NASP,synonymous_variant,p.=,ENST00000529333,;NASP,synonymous_variant,p.=,ENST00000527359,;NASP,synonymous_variant,p.=,ENST00000531532,;NASP,synonymous_variant,p.=,ENST00000528084,;NASP,synonymous_variant,p.=,ENST00000530840,;NASP,non_coding_transcript_exon_variant,,ENST00000464190,;AL355480.1,upstream_gene_variant,,ENST00000629041,;AL355480.3,upstream_gene_variant,,ENST00000630128,;	T	ENST00000350030	Transcript	synonymous_variant	120/3207	33/2367	11/788	V	gtC/gtT		1		1	NASP	HGNC	HGNC:7644	protein_coding	YES	CCDS524.1	ENSP00000255120	P49321		UPI000012FDA0	NM_002482.3			1/15		hmmpanther:PTHR15081,hmmpanther:PTHR15081:SF1,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	45584179	45584179	C	T	1	0	0	0	0	0	0	0	1	10181	871	31	1		1	NASP	1	45584179	Silent	SNP	C	C3N-00294_TP	240509	45584179	203372243	34	13536											
PIK3R3	0	.	GRCh38	chr1	46077612	46077612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caatttgtcatttacctcctCcctgaagaacagaattataa	14	13	4	10	0	1	3	1	1	0	2	3	3	3	3	3	0	2	0	3	0	7	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.217G>A	p.Glu73Lys	p.E73K	ENST00000262741	3/10	137	111	26	135	135	0	strelka-varscan-mutect	PIK3R3,missense_variant,p.Glu73Lys,ENST00000262741,NM_003629.3;PIK3R3,missense_variant,p.Glu73Lys,ENST00000420542,NM_001114172.1;PIK3R3,missense_variant,p.Glu73Lys,ENST00000372006,NM_001303428.1;PIK3R3,missense_variant,p.Glu73Lys,ENST00000423209,NM_001303429.1;PIK3R3,missense_variant,p.Glu119Lys,ENST00000540385,NM_001303427.1;PIK3R3,missense_variant,p.Glu73Lys,ENST00000425892,;PIK3R3,splice_region_variant,,ENST00000493202,;	T	ENST00000262741	Transcript	missense_variant,splice_region_variant	907/5609	217/1386	73/461	E/K	Gag/Aag		1		-1	PIK3R3	HGNC	HGNC:8981	protein_coding	YES	CCDS529.1	ENSP00000262741	Q92569		UPI000013D318	NM_003629.3	deleterious(0)		3/10		Gene3D:3.30.505.10,Pfam_domain:PF00017,Prints_domain:PR00401,Prints_domain:PR00678,PROSITE_profiles:PS50001,hmmpanther:PTHR10155,SMART_domains:SM00252,Superfamily_domains:SSF55550																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	46077612	46077612	C	T	1	0	0	0	0	1	0	0	0	12015	869	30	3		3	PIK3R3	1	46077612	Missense_Mutation	SNP	C	C3N-00294_TP	493433	46077612	202878810	35	13537											
CYP4X1	0	.	GRCh38	chr1	47030126	47030126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaaagacacttctgagcaGaacaggtaagaagaggggga	16	5	14	6	0	1	5	0	1	1	4	1	6	1	6	0	3	3	3	0	3	4	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.314G>A	p.Arg105Lys	p.R105K	ENST00000371901	2/12	114	85	29	123	123	0	strelka-varscan-mutect	CYP4X1,missense_variant,p.Arg105Lys,ENST00000371901,NM_178033.1;	A	ENST00000371901	Transcript	missense_variant	564/2357	314/1530	105/509	R/K	aGa/aAa		1		1	CYP4X1	HGNC	HGNC:20244	protein_coding	YES	CCDS544.1	ENSP00000360968	Q8N118		UPI000003F043	NM_178033.1	deleterious(0.05)		2/12		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF55,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		rs1393635084	.												A	3	1	46	47030126	47030126	G	A	1	0	0	0	0	1	0	0	0	3996	956	33	3		3	CYP4X1	1	47030126	Missense_Mutation	SNP	G	C3N-00294_TP	952514	47030126	201926296	36	13538											
CYP4X1	0	.	GRCh38	chr1	47035833	47035833	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagaagatttgcagcactCaggacacaagcgtggaggtc	12	6	15	8	1	1	2	1	0	0	2	2	5	1	4	0	4	3	2	0	4	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.520C>T	p.Gln174Ter	p.Q174*	ENST00000371901	5/12	97	81	16	86	86	0	strelka-varscan-mutect	CYP4X1,stop_gained,p.Gln174Ter,ENST00000371901,NM_178033.1;CYP4X1,upstream_gene_variant,,ENST00000466294,;	T	ENST00000371901	Transcript	stop_gained	770/2357	520/1530	174/509	Q/*	Cag/Tag		1		1	CYP4X1	HGNC	HGNC:20244	protein_coding	YES	CCDS544.1	ENSP00000360968	Q8N118		UPI000003F043	NM_178033.1			5/12		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF55,Superfamily_domains:SSF48264																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	46	47035833	47035833	C	T	1	0	0	0	0	0	1	0	0	3996	827	29	3		3	CYP4X1	1	47035833	Nonsense_Mutation	SNP	C	C3N-00294_TP	5707	47035833	201920589	37	13539											
STIL	0	.	GRCh38	chr1	47262968	47262968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagggttgcattacatgctCaatttttggttcctctgatg	8	16	9	8	0	2	1	1	1	1	0	3	1	3	1	1	2	3	4	1	2	3	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2764G>A	p.Glu922Lys	p.E922K	ENST00000371877	15/17	247	185	62	290	290	0	strelka-varscan-mutect	STIL,missense_variant,p.Glu921Lys,ENST00000360380,NM_001282936.1,NM_003035.2;STIL,missense_variant,p.Glu875Lys,ENST00000337817,NM_001282939.1,NM_001282938.1;STIL,missense_variant,p.Glu922Lys,ENST00000371877,NM_001048166.1;STIL,missense_variant,p.Glu904Lys,ENST00000396221,NM_001282937.1;STIL,missense_variant,p.Glu857Lys,ENST00000447475,;STIL,non_coding_transcript_exon_variant,,ENST00000418131,;	T	ENST00000371877	Transcript	missense_variant	2912/5009	2764/3867	922/1288	E/K	Gag/Aag		1		-1	STIL	HGNC	HGNC:10879	protein_coding	YES	CCDS41329.1	ENSP00000360944	Q15468		UPI00002042D5	NM_001048166.1	deleterious(0.02)		15/17		hmmpanther:PTHR15128,hmmpanther:PTHR15128:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	47262968	47262968	C	T	1	0	0	0	0	1	0	0	0	15659	835	29	3		3	STIL	1	47262968	Missense_Mutation	SNP	C	C3N-00294_TP	227135	47262968	201693454	38	13540											
TRABD2B	0	.	GRCh38	chr1	47794700	47794700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctggcggaagtagctgtCaatctcctgggccgtcacct	6	10	11	14	2	3	0	2	0	1	0	5	1	4	1	4	3	1	2	4	3	3	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.874G>A	p.Asp292Asn	p.D292N	ENST00000606738	4/7	205	155	50	212	212	0	strelka-varscan-mutect	TRABD2B,missense_variant,p.Asp292Asn,ENST00000606738,NM_001194986.1;TRABD2B,intron_variant,,ENST00000435576,;	T	ENST00000606738	Transcript	missense_variant	980/7034	874/1554	292/517	D/N	Gac/Aac		1		-1	TRABD2B	HGNC	HGNC:44200	protein_coding	YES	CCDS58000.1	ENSP00000476820	A6NFA1		UPI00017BE8EF	NM_001194986.1	tolerated(0.13)		4/7		hmmpanther:PTHR31120:SF8,hmmpanther:PTHR31120,Pfam_domain:PF01963																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	47794700	47794700	C	T	1	0	0	0	0	1	0	0	0	16918	826	29	3		3	TRABD2B	1	47794700	Missense_Mutation	SNP	C	C3N-00294_TP	531732	47794700	201161722	39	13541											
C8A	0	.	GRCh38	chr1	56876136	56876136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctgatgaggacgactgtGaagatgtcagggccattgac	10	9	14	8	1	2	5	1	4	1	1	2	7	2	6	1	2	0	1	1	2	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.391G>A	p.Glu131Lys	p.E131K	ENST00000361249	4/11	476	368	108	515	515	0	strelka-varscan-mutect	C8A,missense_variant,p.Glu131Lys,ENST00000361249,NM_000562.2;	A	ENST00000361249	Transcript	missense_variant	487/2356	391/1755	131/584	E/K	Gaa/Aaa		1		1	C8A	HGNC	HGNC:1352	protein_coding	YES	CCDS606.1	ENSP00000354458	P07357		UPI0000127C5A	NM_000562.2	deleterious(0.03)		4/11		PROSITE_profiles:PS50068,hmmpanther:PTHR19325:SF385,hmmpanther:PTHR19325,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	56876136	56876136	G	A	1	0	0	0	0	1	0	0	0	2150	1291	45	3		3	C8A	1	56876136	Missense_Mutation	SNP	G	C3N-00294_TP	9081436	56876136	192080286	40	13542											
DAB1	0	.	GRCh38	chr1	57136619	57136619	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctgtttgtgttctcctttgGaacgagcgccagcaacaacg	8	12	10	11	3	2	0	0	0	2	0	3	2	2	1	2	1	5	3	2	1	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.230C>G	p.Ser77Cys	p.S77C	ENST00000371236	4/15	76	68	8	112	112	0	strelka-mutect	DAB1,missense_variant,p.Ser77Cys,ENST00000371236,;DAB1,missense_variant,p.Ser77Cys,ENST00000414851,NM_021080.3;DAB1,missense_variant,p.Ser77Cys,ENST00000420954,;DAB1,missense_variant,p.Ser77Cys,ENST00000371231,;DAB1,missense_variant,p.Ser77Cys,ENST00000371230,;DAB1,missense_variant,p.Ser77Cys,ENST00000371232,;DAB1,missense_variant,p.Ser77Cys,ENST00000332102,;DAB1,non_coding_transcript_exon_variant,,ENST00000485760,;DAB1,upstream_gene_variant,,ENST00000489267,;	C	ENST00000371236	Transcript	missense_variant	494/5298	230/1668	77/555	S/C	tCc/tGc		1		-1	DAB1	HGNC	HGNC:2661	protein_coding	YES	CCDS607.1	ENSP00000360280	O75553		UPI000013EE33		deleterious(0)		4/15		PROSITE_profiles:PS01179,hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF40,Gene3D:2.30.29.30,Pfam_domain:PF00640,SMART_domains:SM00462,Superfamily_domains:SSF50729																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	46	57136619	57136619	G	C	1	0	0	0	0	1	0	0	0	4018	1174	41	4		4	DAB1	1	57136619	Missense_Mutation	SNP	G	C3N-00294_TP	260483	57136619	191819803	41	13543											
MYSM1	0	.	GRCh38	chr1	58667093	58667093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggattaggatcaaaagcaGgatgagaatgataccatcca	18	7	10	6	0	1	2	1	2	0	1	2	6	2	5	2	3	2	1	2	3	6	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1976C>A	p.Pro659His	p.P659H	ENST00000472487	16/20	113	101	12	146	145	1	strelka-varscan-mutect	MYSM1,missense_variant,p.Pro659His,ENST00000472487,NM_001085487.2;MYSM1,missense_variant,p.Pro65His,ENST00000622766,;MYSM1,non_coding_transcript_exon_variant,,ENST00000493821,;MYSM1,non_coding_transcript_exon_variant,,ENST00000401044,;	T	ENST00000472487	Transcript	missense_variant	2016/7785	1976/2487	659/828	P/H	cCt/cAt		1		-1	MYSM1	HGNC	HGNC:29401	protein_coding	YES	CCDS41343.1	ENSP00000418734	Q5VVJ2		UPI0000204444	NM_001085487.2	deleterious(0)		16/20		hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF20,Gene3D:3.40.140.10,Pfam_domain:PF01398,SMART_domains:SM00232,Superfamily_domains:0048572																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	46	58667093	58667093	G	T	1	0	0	0	0	1	0	0	0	10104	1000	35	2		2	MYSM1	1	58667093	Missense_Mutation	SNP	G	C3N-00294_TP	1530474	58667093	190289329	42	13544											
JUN	0	.	GRCh38	chr1	58782737	58782737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggcgcgcacgaagccctCggcgaagccctcctgctcat	7	5	12	17	5	1	0	1	0	0	0	3	2	2	0	3	2	3	2	3	2	2	0			C3N-00294_TP	C3N-00294_NB	C	C																c.334G>A	p.Glu112Lys	p.E112K	ENST00000371222	1/1	93	71	22	85	85	0	strelka-varscan-mutect	JUN,missense_variant,p.Glu112Lys,ENST00000371222,NM_002228.3;LINC01135,upstream_gene_variant,,ENST00000419531,;	T	ENST00000371222	Transcript	missense_variant	1591/3540	334/996	112/331	E/K	Gag/Aag	COSM681630,COSM681631	1		-1	JUN	HGNC	HGNC:6204	protein_coding	YES	CCDS610.1	ENSP00000360266	P05412		UPI000000D908	NM_002228.3	deleterious(0.01)		1/1		Pfam_domain:PF03957,hmmpanther:PTHR11462,hmmpanther:PTHR11462:SF8											1,1						MODERATE		SNV			1,1	1										PASS		rs1184098204	.												T	3	4	46	58782737	58782737	C	T	1	0	0	0	0	1	0	0	0	7879	893	31	1		1	JUN	1	58782737	Missense_Mutation	SNP	C	C3N-00294_TP	115644	58782737	190173685	43	13545											
L1TD1	0	.	GRCh38	chr1	62209978	62209978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgatgaagatacctcaGggctggaggaggaggaggaa	14	5	18	4	0	1	3	1	2	0	1	1	9	1	9	1	7	1	1	1	7	3	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1204G>A	p.Gly402Arg	p.G402R	ENST00000498273	4/4	193	105	88	198	198	0	strelka-varscan-mutect	L1TD1,missense_variant,p.Gly402Arg,ENST00000498273,NM_001164835.1,NM_019079.4;Y_RNA,upstream_gene_variant,,ENST00000363304,;RP5-1155K23.4,upstream_gene_variant,,ENST00000450606,;	A	ENST00000498273	Transcript	missense_variant	1499/3849	1204/2598	402/865	G/R	Ggg/Agg		1		1	L1TD1	HGNC	HGNC:25595	protein_coding	YES	CCDS619.1	ENSP00000419901	Q5T7N2		UPI000013E18E	NM_001164835.1,NM_019079.4	deleterious(0.04)		4/4		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	62209978	62209978	G	A	1	0	0	0	0	1	0	0	0	8490	1000	35	3		3	L1TD1	1	62209978	Missense_Mutation	SNP	G	C3N-00294_TP	3427241	62209978	186746444	44	13546											
IL12RB2	0	.	GRCh38	chr1	67368018	67368018	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctacaatgtgtctgctctGatttcaggtacctaattgtt	8	16	7	10	0	3	1	1	1	2	0	3	1	3	1	2	1	3	3	2	1	4	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1452G>A	p.=	p.L484L	ENST00000262345	10/16	405	339	66	410	410	0	strelka-varscan-mutect	IL12RB2,synonymous_variant,p.=,ENST00000262345,NM_001559.2;IL12RB2,synonymous_variant,p.=,ENST00000541374,NM_001258216.1;IL12RB2,synonymous_variant,p.=,ENST00000544434,NM_001258215.1;IL12RB2,synonymous_variant,p.=,ENST00000371000,NM_001258214.1;	A	ENST00000262345	Transcript	synonymous_variant	2092/4040	1452/2589	484/862	L	ctG/ctA		1		1	IL12RB2	HGNC	HGNC:5972	protein_coding	YES	CCDS638.1	ENSP00000262345	Q99665		UPI0000046B13	NM_001559.2			10/16		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF79,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	67368018	67368018	G	A	1	0	0	0	0	0	0	0	1	7535	1277	45	3		3	IL12RB2	1	67368018	Silent	SNP	G	C3N-00294_TP	5158040	67368018	181588404	45	13547											
LRRC7	0	.	GRCh38	chr1	69931556	69931556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttgacctaggcaataatGaattcggtgagctggtaagc	12	10	12	7	1	0	3	0	3	0	0	1	4	0	3	1	3	2	3	1	3	5	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.583G>A	p.Glu195Lys	p.E195K	ENST00000035383	6/25	126	92	34	202	202	0	strelka-varscan-mutect	LRRC7,missense_variant,p.Glu200Lys,ENST00000310961,;LRRC7,missense_variant,p.Glu195Lys,ENST00000035383,NM_020794.2;LRRC7,5_prime_UTR_variant,,ENST00000415775,;	A	ENST00000035383	Transcript	missense_variant	613/5000	583/4614	195/1537	E/K	Gaa/Aaa		1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2	deleterious(0)		6/25		PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF459,hmmpanther:PTHR23155,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,SMART_domains:SM00364,SMART_domains:SM00365,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	69931556	69931556	G	A	1	0	0	0	0	1	0	0	0	8916	1291	45	3		3	LRRC7	1	69931556	Missense_Mutation	SNP	G	C3N-00294_TP	2563538	69931556	179024866	46	13548											
NEXN	0	.	GRCh38	chr1	77942063	77942063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcaagaaaaagcgaggCtccatttactcacaaagtga	15	7	9	10	1	1	2	1	1	0	1	2	3	2	2	2	1	3	2	2	1	5	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1514C>T	p.Ala505Val	p.A505V	ENST00000334785	12/13	262	183	79	354	354	0	strelka-varscan-mutect	NEXN,missense_variant,p.Ala441Val,ENST00000330010,NM_001172309.1;NEXN,missense_variant,p.Ala405Val,ENST00000342754,;NEXN,missense_variant,p.Ala505Val,ENST00000334785,NM_144573.3;NEXN,non_coding_transcript_exon_variant,,ENST00000480732,;FUBP1,downstream_gene_variant,,ENST00000489495,;FUBP1,downstream_gene_variant,,ENST00000492405,;FUBP1,downstream_gene_variant,,ENST00000474632,;FUBP1,downstream_gene_variant,,ENST00000488814,;FUBP1,downstream_gene_variant,,ENST00000483894,;FUBP1,downstream_gene_variant,,ENST00000492724,;FUBP1,downstream_gene_variant,,ENST00000480673,;NEXN,non_coding_transcript_exon_variant,,ENST00000470735,;FUBP1,downstream_gene_variant,,ENST00000294623,;	T	ENST00000334785	Transcript	missense_variant	1698/2607	1514/2028	505/675	A/V	gCt/gTt		1		1	NEXN	HGNC	HGNC:29557	protein_coding	YES	CCDS41351.1	ENSP00000333938	Q0ZGT2		UPI000022ABDC	NM_144573.3	deleterious(0.05)		12/13		hmmpanther:PTHR10489:SF677,hmmpanther:PTHR10489																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	77942063	77942063	C	T	1	0	0	0	0	1	0	0	0	10392	797	28	3		3	NEXN	1	77942063	Missense_Mutation	SNP	C	C3N-00294_TP	8010507	77942063	171014359	47	13549											
SH3GLB1	0	.	GRCh38	chr1	86722563	86722563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcccttattaaatgtggaGaaacccaaaaaagaattgga	18	9	8	6	0	0	2	0	0	0	2	0	4	0	3	2	2	2	0	2	2	8	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.367G>C	p.Glu123Gln	p.E123Q	ENST00000616170	4/10	60	40	20	116	116	0	strelka-varscan-mutect	SH3GLB1,missense_variant,p.Glu123Gln,ENST00000616170,NM_001206651.1;SH3GLB1,missense_variant,p.Glu123Gln,ENST00000370558,NM_016009.4;SH3GLB1,missense_variant,p.Glu23Gln,ENST00000535010,NM_001206653.1;SH3GLB1,missense_variant,p.Glu123Gln,ENST00000482504,NM_001206652.1;	C	ENST00000616170	Transcript	missense_variant	697/6456	367/1185	123/394	E/Q	Gaa/Caa		1		1	SH3GLB1	HGNC	HGNC:10833	protein_coding	YES	CCDS72819.1	ENSP00000479919		A0A087WW40	UPI0000E05641	NM_001206651.1	tolerated(0.61)		4/10		PROSITE_profiles:PS51021,hmmpanther:PTHR10663:SF161,hmmpanther:PTHR10663,Pfam_domain:PF03114,Gene3D:1.20.1270.60,SMART_domains:SM00721,Superfamily_domains:SSF103657																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	86722563	86722563	G	C	1	0	0	0	0	1	0	0	0	14512	943	33	4		4	SH3GLB1	1	86722563	Missense_Mutation	SNP	G	C3N-00294_TP	8780500	86722563	162233859	48	13550											
BARHL2	0	.	GRCh38	chr1	90714699	90714699	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttcgaggcttcttggctCtcacagggggactctcacgg	5	12	12	12	2	3	0	2	0	3	0	6	2	3	1	0	5	0	2	0	5	0	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.683G>C	p.Arg228Thr	p.R228T	ENST00000370445	2/3	329	205	124	314	313	1	strelka-varscan-mutect	BARHL2,missense_variant,p.Arg228Thr,ENST00000370445,NM_020063.1;	G	ENST00000370445	Transcript	missense_variant	725/1979	683/1164	228/387	R/T	aGa/aCa		1		-1	BARHL2	HGNC	HGNC:954	protein_coding	YES	CCDS730.1	ENSP00000359474	Q9NY43		UPI00001B50ED	NM_020063.1	deleterious(0)		2/3		hmmpanther:PTHR24330:SF4,hmmpanther:PTHR24330,Gene3D:1.10.10.60,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	90714699	90714699	C	G	1	0	0	0	0	1	0	0	0	1466	913	32	4		4	BARHL2	1	90714699	Missense_Mutation	SNP	C	C3N-00294_TP	3992136	90714699	158241723	49	13551											
BRDT	0	.	GRCh38	chr1	91980965	91980965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctaaacctatgaactatGatgagaaaaggcagttaagt	17	10	9	5	0	0	3	0	3	0	1	0	4	0	3	1	1	3	3	1	1	8	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1549G>A	p.Asp517Asn	p.D517N	ENST00000399546	10/19	88	73	15	161	161	0	strelka-varscan-mutect	BRDT,missense_variant,p.Asp440Asn,ENST00000370389,NM_001242810.2;BRDT,missense_variant,p.Asp513Asn,ENST00000362005,NM_001242805.2,NM_207189.3;BRDT,missense_variant,p.Asp517Asn,ENST00000399546,NM_001242806.2;BRDT,missense_variant,p.Asp467Asn,ENST00000394530,NM_001242808.2,NM_001242807.2;BRDT,missense_variant,p.Asp513Asn,ENST00000402388,NM_001726.4;BRDT,downstream_gene_variant,,ENST00000426141,;BRDT,downstream_gene_variant,,ENST00000427104,;BRDT,downstream_gene_variant,,ENST00000440509,;BRDT,downstream_gene_variant,,ENST00000423434,;BRDT,downstream_gene_variant,,ENST00000448194,;BRDT,downstream_gene_variant,,ENST00000484781,;	A	ENST00000399546	Transcript	missense_variant	1898/3357	1549/2856	517/951	D/N	Gat/Aat		1		1	BRDT	HGNC	HGNC:1105	protein_coding	YES	CCDS72820.1	ENSP00000387822	Q58F21		UPI000292A27D	NM_001242806.2	deleterious(0)		10/19		Pfam_domain:PF17035,PROSITE_profiles:PS51525,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF175																	MODERATE	1	SNV	2			1										PASS		rs1188709614	.												A	3	1	46	91980965	91980965	G	A	1	0	0	0	0	1	0	0	0	1678	1290	45	3		3	BRDT	1	91980965	Missense_Mutation	SNP	G	C3N-00294_TP	1266266	91980965	156975457	50	13552											
PLPPR4	0	.	GRCh38	chr1	99306600	99306600	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagggttgaggctcacccaGagaacaacaggcccatcata	13	6	11	11	0	2	3	2	2	0	1	2	4	2	3	2	3	2	2	2	3	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1882G>C	p.Glu628Gln	p.E628Q	ENST00000370185	7/7	240	190	50	274	274	0	strelka-varscan-mutect	PLPPR4,missense_variant,p.Glu628Gln,ENST00000370185,NM_014839.4;PLPPR4,missense_variant,p.Glu570Gln,ENST00000457765,NM_001166252.1;PLPPR4,missense_variant,p.Glu470Gln,ENST00000370184,;	C	ENST00000370185	Transcript	missense_variant	2379/5369	1882/2292	628/763	E/Q	Gag/Cag		1		1	PLPPR4	HGNC	HGNC:23496	protein_coding	YES	CCDS757.1	ENSP00000359204	Q7Z2D5		UPI0000161229	NM_014839.4	deleterious(0.02)		7/7																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	99306600	99306600	G	C	1	0	0	0	0	1	0	0	0	12212	943	33	4		4	PLPPR4	1	99306600	Missense_Mutation	SNP	G	C3N-00294_TP	7325635	99306600	149649822	51	13553											
WDR47	0	.	GRCh38	chr1	108981858	108981858	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaggtataaagtgctaaaAtatgccctataaaagatcat	17	11	6	7	0	1	1	1	0	0	1	2	1	2	1	2	1	2	2	2	1	9	6	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.2297T>G	p.Ile766Ser	p.I766S	ENST00000400794	13/15	96	73	23	105	105	0	strelka-varscan-mutect	WDR47,missense_variant,p.Ile759Ser,ENST00000369965,NM_014969.5;WDR47,missense_variant,p.Ile758Ser,ENST00000369962,NM_001142551.1;WDR47,missense_variant,p.Ile732Ser,ENST00000357672,;WDR47,missense_variant,p.Ile766Ser,ENST00000400794,NM_001142550.1;WDR47,missense_variant,p.Ile730Ser,ENST00000361054,;	C	ENST00000400794	Transcript	missense_variant	2431/4134	2297/2784	766/927	I/S	aTt/aGt		1		-1	WDR47	HGNC	HGNC:29141	protein_coding	YES	CCDS44186.1	ENSP00000383599	O94967		UPI0001639B05	NM_001142550.1	deleterious(0)		13/15		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19863,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	108981858	108981858	A	C	1	0	0	0	0	1	0	0	0	17860	101	4	5		5	WDR47	1	108981858	Missense_Mutation	SNP	A	C3N-00294_TP	9675258	108981858	139974564	52	13554											
KCNA2	0	.	GRCh38	chr1	110603675	110603675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacagttgtcatggagaCgactgcccaccagaaggcat	11	7	11	12	1	1	2	1	0	0	2	1	4	1	2	3	2	2	2	3	2	2	2	rs756214647		C3N-00294_TP	C3N-00294_NB	C	C																c.1108G>A	p.Val370Ile	p.V370I	ENST00000633222	3/3	205	178	27	221	221	0	strelka-varscan-mutect	KCNA2,missense_variant,p.Val370Ile,ENST00000633222,;KCNA2,missense_variant,p.Val370Ile,ENST00000485317,;KCNA2,missense_variant,p.Val370Ile,ENST00000316361,NM_004974.3;KCNA2,intron_variant,,ENST00000369770,NM_001204269.1;KCNA2,downstream_gene_variant,,ENST00000525120,;	T	ENST00000633222	Transcript	missense_variant	1782/11877	1108/1500	370/499	V/I	Gtc/Atc	rs756214647,COSM1560110	1		-1	KCNA2	HGNC	HGNC:6220	protein_coding	YES	CCDS827.1	ENSP00000487785	P16389		UPI00001279A1		deleterious(0.03)		3/3		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF23,Superfamily_domains:SSF81324											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs756214647	.												T	3	4	46	110603675	110603675	C	T	1	0	0	0	0	1	0	0	0	7919	536	19	1		1	KCNA2	1	110603675	Missense_Mutation	SNP	C	C3N-00294_TP	1621817	110603675	138352747	53	13555											
LRIG2	0	.	GRCh38	chr1	113114472	113114472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggataagacagtaacacGaggtgaaactgcggtgttac	14	7	14	6	2	0	2	0	1	0	1	0	5	0	4	0	4	4	2	0	4	4	3			C3N-00294_TP	C3N-00294_NB	G	G																c.2126G>A	p.Arg709Gln	p.R709Q	ENST00000361127	15/18	122	111	11	162	162	0	strelka-varscan-mutect	LRIG2,missense_variant,p.Arg709Gln,ENST00000361127,NM_014813.2;LRIG2,non_coding_transcript_exon_variant,,ENST00000492207,;LRIG2,non_coding_transcript_exon_variant,,ENST00000466161,;	A	ENST00000361127	Transcript	missense_variant	2324/11555	2126/3198	709/1065	R/Q	cGa/cAa	COSM2120114,COSM674291	1		1	LRIG2	HGNC	HGNC:20889	protein_coding	YES	CCDS30808.1	ENSP00000355396	O94898		UPI000006F613	NM_014813.2	tolerated(0.53)		15/18		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF230,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1309314863	.												A	3	1	46	113114472	113114472	G	A	1	0	0	0	0	1	0	0	0	8840	1058	37	1		1	LRIG2	1	113114472	Missense_Mutation	SNP	G	C3N-00294_TP	2510797	113114472	135841950	54	13556											
DENND2C	0	.	GRCh38	chr1	114608787	114608787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaacagctgctgctcctGtaattcaataagatcccgct	11	12	6	12	1	2	1	2	0	0	1	4	1	4	1	2	0	4	5	2	0	4	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1456C>A	p.Gln486Lys	p.Q486K	ENST00000393274	10/21	300	186	114	301	301	0	strelka-varscan-mutect	DENND2C,missense_variant,p.Gln486Lys,ENST00000393274,NM_001256404.1;DENND2C,missense_variant,p.Gln429Lys,ENST00000393276,NM_198459.3;DENND2C,missense_variant,p.Gln486Lys,ENST00000393277,;DENND2C,non_coding_transcript_exon_variant,,ENST00000481894,;	T	ENST00000393274	Transcript	missense_variant	2082/6163	1456/2787	486/928	Q/K	Cag/Aag		1		-1	DENND2C	HGNC	HGNC:24748	protein_coding	YES	CCDS58018.1	ENSP00000376955	Q68D51		UPI000048AF71	NM_001256404.1	deleterious(0.01)		10/21		Low_complexity_(Seg):seg,hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF6																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	114608787	114608787	G	T	1	0	0	0	0	1	0	0	0	4234	1386	48	2		2	DENND2C	1	114608787	Missense_Mutation	SNP	G	C3N-00294_TP	1494315	114608787	134347635	55	13557											
CD101	0	.	GRCh38	chr1	117011847	117011847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtccatagagaggctccagtCctcagatcagggtcagctgt	9	9	12	11	0	3	2	3	0	0	2	6	3	6	2	3	2	1	2	3	2	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.722C>G	p.Ser241Cys	p.S241C	ENST00000369470	3/10	302	242	60	333	333	0	strelka-varscan-mutect	CD101,missense_variant,p.Ser241Cys,ENST00000369470,NM_001256109.2,NM_001256106.2,NM_004258.5,NM_001256111.2;CD101,missense_variant,p.Ser241Cys,ENST00000256652,;	G	ENST00000369470	Transcript	missense_variant	728/3324	722/3066	241/1021	S/C	tCc/tGc		1		1	CD101	HGNC	HGNC:5949	protein_coding	YES	CCDS891.1	ENSP00000358482	Q93033		UPI000013CF1F	NM_001256109.2,NM_001256106.2,NM_004258.5,NM_001256111.2	deleterious(0)		3/10		PROSITE_profiles:PS50835,hmmpanther:PTHR12207:SF25,hmmpanther:PTHR12207,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	117011847	117011847	C	G	1	0	0	0	0	1	0	0	0	2665	855	30	4		4	CD101	1	117011847	Missense_Mutation	SNP	C	C3N-00294_TP	2403060	117011847	131944575	56	13558											
FAM72B	0	.	GRCh38	chr1	121181294	121181294	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaaacatgcgatgtccttCagtttacatttgcagatttt	10	18	6	7	1	1	1	1	0	0	1	2	2	2	1	1	0	4	2	1	0	3	8	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.207G>A	p.=	p.L69L	ENST00000369390	2/4	18	10	8	27	27	0	varscan-mutect	FAM72B,synonymous_variant,p.=,ENST00000369390,NM_001100910.1;FAM72B,synonymous_variant,p.=,ENST00000355228,NM_001320149.1;FAM72B,synonymous_variant,p.=,ENST00000619376,;FAM72B,synonymous_variant,p.=,ENST00000452190,;FAM72B,synonymous_variant,p.=,ENST00000471903,;SRGAP2C,upstream_gene_variant,,ENST00000367123,NM_001271872.1;FAM72B,non_coding_transcript_exon_variant,,ENST00000468129,;SRGAP2C,upstream_gene_variant,,ENST00000412759,;SRGAP2C,upstream_gene_variant,,ENST00000617209,;SRGAP2C,upstream_gene_variant,,ENST00000613462,;FAM72B,downstream_gene_variant,,ENST00000616749,;	T	ENST00000369390	Transcript	synonymous_variant	1058/2396	207/450	69/149	L	ctG/ctA		1		-1	FAM72B	HGNC	HGNC:24805	protein_coding	YES	CCDS72848.1	ENSP00000358397	Q86X60		UPI000046FF4E	NM_001100910.1			2/4		hmmpanther:PTHR31841,Pfam_domain:PF14976																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	121181294	121181294	C	T	1	0	0	0	0	0	0	0	1	5480	813	29	3		3	FAM72B	1	121181294	Silent	SNP	C	C3N-00294_TP	4169447	121181294	127775128	57	13559											
NBPF10	0	.	GRCh38	chr1	146124796	146124796	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataacctgaaggagtcgaatAacatctatccagtgagtcct	14	10	8	9	1	1	2	0	2	1	0	4	4	3	3	3	1	2	0	3	1	5	3	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.2143T>C	p.Tyr715His	p.Y715H	ENST00000583866	16/90	78	70	8	43	43	0	varscan-mutect	NBPF10,missense_variant,p.Tyr715His,ENST00000583866,NM_001039703.5,NM_001302371.1;NBPF10,missense_variant,p.Tyr640His,ENST00000613557,;NBPF10,missense_variant,p.Tyr369His,ENST00000613224,;NBPF10,5_prime_UTR_variant,,ENST00000617010,;NBPF10,3_prime_UTR_variant,,ENST00000616399,;NBPF10,intron_variant,,ENST00000610925,;NBPF10,intron_variant,,ENST00000622244,;RP11-458D21.5,intron_variant,,ENST00000612520,;	G	ENST00000583866	Transcript	missense_variant	2178/13042	2143/11388	715/3795	Y/H	Tat/Cat		1		-1	NBPF10	HGNC	HGNC:31992	protein_coding	YES	CCDS76206.1	ENSP00000463957		A0A075B762	UPI00051EF319	NM_001039703.5,NM_001302371.1	deleterious(0.02)		16/90		Pfam_domain:PF06758,PROSITE_profiles:PS51316,SMART_domains:SM01148																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	46	146124796	146124796	A	G	1	0	0	0	0	1	0	0	0	10204	362	13	5		5	NBPF10	1	146124796	Missense_Mutation	SNP	A	C3N-00294_TP	24943502	146124796	102831626	58	13560											
NBPF12	0	.	GRCh38	chr1	146963120	146963120	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaagtcctggttcactctCaggaacgagagctgacccag	12	8	10	11	1	2	2	2	1	1	1	4	4	3	3	2	2	2	2	2	2	3	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.304C>T	p.Gln102Ter	p.Q102*	ENST00000617931	8/36	464	418	46	344	344	0	varscan-mutect	NBPF12,stop_gained,p.Gln102Ter,ENST00000617931,;NBPF12,stop_gained,p.Gln102Ter,ENST00000617844,NM_001278141.1;NBPF12,stop_gained,p.Gln102Ter,ENST00000611443,;NBPF12,stop_gained,p.Gln102Ter,ENST00000579935,;NBPF12,stop_gained,p.Gln102Ter,ENST00000617614,;NBPF12,intron_variant,,ENST00000613714,;NBPF12,intron_variant,,ENST00000617864,;NBPF12,intron_variant,,ENST00000439206,;	T	ENST00000617931	Transcript	stop_gained	1364/7061	304/4374	102/1457	Q/*	Cag/Tag		1		1	NBPF12	HGNC	HGNC:24297	protein_coding	YES	CCDS72881.1	ENSP00000478609		A0A087WUF1	UPI00032968BC				8/36		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14199:SF20,hmmpanther:PTHR14199																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	46	146963120	146963120	C	T	1	0	0	0	0	0	1	0	0	10206	827	29	3		3	NBPF12	1	146963120	Nonsense_Mutation	SNP	C	C3N-00294_TP	838324	146963120	101993302	59	13561											
MCL1	0	.	GRCh38	chr1	150578381	150578381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggcaccaaaagaaatgaGagtcacaatcctgccccagt	17	5	8	11	0	1	2	1	1	0	2	2	3	2	2	4	1	1	1	4	1	5	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.799C>T	p.Leu267Phe	p.L267F	ENST00000369026	2/3	575	495	80	431	431	0	strelka-varscan-mutect	MCL1,missense_variant,p.Leu267Phe,ENST00000369026,NM_021960.4;MCL1,missense_variant,p.Leu114Phe,ENST00000620947,NM_001197320.1;MCL1,intron_variant,,ENST00000307940,NM_182763.2;ADAMTSL4-AS1,upstream_gene_variant,,ENST00000617352,;MCL1,non_coding_transcript_exon_variant,,ENST00000464132,;	A	ENST00000369026	Transcript	missense_variant	859/3932	799/1053	267/350	L/F	Ctc/Ttc		1		-1	MCL1	HGNC	HGNC:6943	protein_coding	YES	CCDS957.1	ENSP00000358022	Q07820		UPI000006D775	NM_021960.4	tolerated(0.06)		2/3		Gene3D:1.10.437.10,Pfam_domain:PF00452,Prints_domain:PR01862,PROSITE_patterns:PS01080,PROSITE_profiles:PS50062,hmmpanther:PTHR11256,hmmpanther:PTHR11256:SF46,SMART_domains:SM00337,Superfamily_domains:SSF56854																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	150578381	150578381	G	A	1	0	0	0	0	1	0	0	0	9316	942	33	3		3	MCL1	1	150578381	Missense_Mutation	SNP	G	C3N-00294_TP	3615261	150578381	98378041	60	13562											
C1orf56	0	.	GRCh38	chr1	151048841	151048841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctctcttcagtgttcacaGagatgcaaccagtaagtgtt	10	12	9	10	0	3	1	2	0	1	1	4	2	3	1	2	0	2	4	2	0	2	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.994G>C	p.Glu332Gln	p.E332Q	ENST00000368926	1/2	40	32	8	32	32	0	strelka-varscan-mutect	C1orf56,missense_variant,p.Glu332Gln,ENST00000368926,NM_017860.3;CDC42SE1,downstream_gene_variant,,ENST00000439374,;CDC42SE1,downstream_gene_variant,,ENST00000540998,NM_001038707.1;CDC42SE1,downstream_gene_variant,,ENST00000357235,NM_020239.3;BNIPL,downstream_gene_variant,,ENST00000295294,NM_001159642.1;BNIPL,downstream_gene_variant,,ENST00000368931,NM_138278.3;BNIPL,downstream_gene_variant,,ENST00000361277,;C1orf56,non_coding_transcript_exon_variant,,ENST00000465135,;C1orf56,non_coding_transcript_exon_variant,,ENST00000473308,;CDC42SE1,downstream_gene_variant,,ENST00000492796,;BNIPL,downstream_gene_variant,,ENST00000491386,;CDC42SE1,downstream_gene_variant,,ENST00000483763,;BNIPL,downstream_gene_variant,,ENST00000485855,;	C	ENST00000368926	Transcript	missense_variant	1102/2096	994/1026	332/341	E/Q	Gag/Cag		1		1	C1orf56	HGNC	HGNC:26045	protein_coding	YES	CCDS980.1	ENSP00000357922	Q9BUN1		UPI0000048EEB	NM_017860.3	tolerated(0.15)		1/2		hmmpanther:PTHR16240,Pfam_domain:PF15322																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	151048841	151048841	G	C	1	0	0	0	0	1	0	0	0	1994	943	33	4		4	C1orf56	1	151048841	Missense_Mutation	SNP	G	C3N-00294_TP	470460	151048841	97907581	61	13563											
TMOD4	0	.	GRCh38	chr1	151171472	151171472	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctcgtggctaccagactGaagctccgcacataggtatt	9	10	9	13	2	0	2	0	1	0	1	3	2	2	2	3	2	2	4	3	2	4	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.687C>T	p.=	p.F229F	ENST00000295314	7/10	240	214	26	139	139	0	strelka-varscan-mutect	TMOD4,synonymous_variant,p.=,ENST00000295314,NM_013353.2;TMOD4,intron_variant,,ENST00000466891,;SCNM1,downstream_gene_variant,,ENST00000368905,NM_024041.3;VPS72,downstream_gene_variant,,ENST00000368892,NM_001271088.1,NM_005997.2;VPS72,downstream_gene_variant,,ENST00000354473,NM_001271087.1;SCNM1,downstream_gene_variant,,ENST00000368902,NM_001204856.1;SCNM1,downstream_gene_variant,,ENST00000602841,NM_001204848.1;TMOD4,downstream_gene_variant,,ENST00000441701,;TMOD4,non_coding_transcript_exon_variant,,ENST00000488488,;SCNM1,downstream_gene_variant,,ENST00000461862,;SCNM1,downstream_gene_variant,,ENST00000497147,;TMOD4,downstream_gene_variant,,ENST00000601585,;SCNM1,downstream_gene_variant,,ENST00000459799,;SCNM1,downstream_gene_variant,,ENST00000471039,;TMOD4,3_prime_UTR_variant,,ENST00000463543,;VPS72,non_coding_transcript_exon_variant,,ENST00000491094,;	A	ENST00000295314	Transcript	synonymous_variant	822/1267	687/1038	229/345	F	ttC/ttT		1		-1	TMOD4	HGNC	HGNC:11874	protein_coding	YES	CCDS988.1	ENSP00000295314	Q9NZQ9		UPI00000015C0	NM_013353.2			7/10		hmmpanther:PTHR10901:SF9,hmmpanther:PTHR10901,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	151171472	151171472	G	A	1	0	0	0	0	0	0	0	1	16712	1281	45	3		3	TMOD4	1	151171472	Silent	SNP	G	C3N-00294_TP	122631	151171472	97784950	62	13564											
C2CD4D	0	.	GRCh38	chr1	151838314	151838314	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cccgggcccggcctgatattCggtggagagccgcagctgcc	5	6	15	15	4	0	2	0	1	0	1	1	3	0	2	5	4	3	2	5	4	1	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.676G>C	p.Glu226Gln	p.E226Q	ENST00000454109	2/2	85	74	11	39	39	0	strelka-varscan-mutect	C2CD4D,missense_variant,p.Glu226Gln,ENST00000454109,NM_001136003.1;AL450992.2,upstream_gene_variant,,ENST00000434182,;Y_RNA,downstream_gene_variant,,ENST00000364264,;	G	ENST00000454109	Transcript	missense_variant	1262/1757	676/1062	226/353	E/Q	Gaa/Caa		1		-1	C2CD4D	HGNC	HGNC:37210	protein_coding	YES	CCDS44224.1	ENSP00000389554	B7Z1M9		UPI0001747AE2	NM_001136003.1	deleterious(0.01)		2/2		Gene3D:2.60.40.150,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF179,Superfamily_domains:SSF49562																	MODERATE	1	SNV	2			1										PASS		rs1346931782	.												G	3	3	46	151838314	151838314	C	G	1	0	0	0	0	1	0	0	0	2029	893	31	4		4	C2CD4D	1	151838314	Missense_Mutation	SNP	C	C3N-00294_TP	666842	151838314	97118108	63	13565											
THEM5	0	.	GRCh38	chr1	151853494	151853494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcagggttgagtctgggcagGatacggggggcctcaagaag	9	6	19	7	1	2	2	1	1	1	1	2	3	2	3	1	6	1	3	1	6	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.72C>G	p.Ile24Met	p.I24M	ENST00000368817	1/6	166	151	15	110	110	0	strelka-varscan-mutect	THEM5,missense_variant,p.Ile24Met,ENST00000368817,NM_182578.3;THEM5,upstream_gene_variant,,ENST00000453881,;AL450992.2,downstream_gene_variant,,ENST00000434182,;	C	ENST00000368817	Transcript	missense_variant	204/984	72/744	24/247	I/M	atC/atG		1		-1	THEM5	HGNC	HGNC:26755	protein_coding	YES	CCDS1005.1	ENSP00000357807	Q8N1Q8		UPI000013E246	NM_182578.3	deleterious(0.03)		1/6		hmmpanther:PTHR12418,hmmpanther:PTHR12418:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	151853494	151853494	G	C	1	0	0	0	0	1	0	0	0	16292	1164	41	4		4	THEM5	1	151853494	Missense_Mutation	SNP	G	C3N-00294_TP	15180	151853494	97102928	64	13566											
HRNR	0	.	GRCh38	chr1	152218780	152218780	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctggaggagtgacctgagCcagatccatgctgagtgtaa	11	8	14	8	0	0	4	0	3	0	1	1	6	1	6	3	2	3	3	3	2	1	1	rs755677565		C3N-00294_TP	C3N-00294_NB	C	C																c.2849G>C	p.Gly950Ala	p.G950A	ENST00000368801	3/3	926	805	121	736	736	0	varscan-mutect	HRNR,missense_variant,p.Gly950Ala,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	G	ENST00000368801	Transcript	missense_variant	2925/9623	2849/8553	950/2850	G/A	gGc/gCc	rs755677565,COSM1127391	1		-1	HRNR	HGNC	HGNC:20846	protein_coding	YES	CCDS30859.1	ENSP00000357791	Q86YZ3		UPI00001D7CAD	NM_001009931.2	tolerated(0.22)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs755677565	.												G	3	3	46	152218780	152218780	C	G	1	0	0	0	0	1	0	0	0	7254	739	26	4		4	HRNR	1	152218780	Missense_Mutation	SNP	C	C3N-00294_TP	365286	152218780	96737642	65	13567											
LCE1D	0	.	GRCh38	chr1	152798045	152798045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgccacaggtcccaccgtcGcagaccccagagctctgact	8	5	10	18	3	1	3	0	1	1	2	3	3	2	3	5	1	1	2	5	1	0	0	rs41268492		C3N-00294_TP	C3N-00294_NB	G	G																c.251G>A	p.Arg84His	p.R84H	ENST00000326233	2/2	251	228	23	213	209	4	varscan-mutect	LCE1D,missense_variant,p.Arg84His,ENST00000326233,NM_178352.2;	A	ENST00000326233	Transcript	missense_variant	294/430	251/345	84/114	R/H	cGc/cAc	rs41268492	1		1	LCE1D	HGNC	HGNC:29465	protein_coding	YES	CCDS1025.1	ENSP00000316737	Q5T752		UPI0000192765	NM_178352.2			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR23263,Pfam_domain:PF14672																	MODERATE	1	SNV	5			1										PASS		rs41268492	.												A	3	1	46	152798045	152798045	G	A	1	0	0	0	0	1	0	0	0	8567	1087	38	1		1	LCE1D	1	152798045	Missense_Mutation	SNP	G	C3N-00294_TP	579265	152798045	96158377	66	13568											
IVL	0	.	GRCh38	chr1	152911505	152911505	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaagtattgcttcctgtaGagcaccagcagcagaagcag	13	7	12	9	0	0	3	0	0	0	3	1	4	1	3	2	0	5	7	2	0	4	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1708G>C	p.Glu570Gln	p.E570Q	ENST00000368764	2/2	161	142	19	137	137	0	strelka-varscan-mutect	IVL,missense_variant,p.Glu570Gln,ENST00000368764,NM_005547.2;	C	ENST00000368764	Transcript	missense_variant	1772/2153	1708/1758	570/585	E/Q	Gag/Cag		1		1	IVL	HGNC	HGNC:6187	protein_coding	YES	CCDS1030.1	ENSP00000357753	P07476		UPI000013E24A	NM_005547.2	tolerated_low_confidence(0.15)		2/2																			MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	46	152911505	152911505	G	C	1	0	0	0	0	1	0	0	0	7835	943	33	4		4	IVL	1	152911505	Missense_Mutation	SNP	G	C3N-00294_TP	113460	152911505	96044917	67	13569											
DENND4B	0	.	GRCh38	chr1	153934173	153934173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacagtgggctgtgcccctCgggcactgcccaggctacca	6	6	12	17	1	0	0	0	0	0	0	1	0	0	0	5	3	3	3	5	3	1	1	rs748707602		C3N-00294_TP	C3N-00294_NB	C	C																c.2903G>A	p.Arg968Gln	p.R968Q	ENST00000361217	19/28	134	111	23	74	73	1	strelka-varscan-mutect	DENND4B,missense_variant,p.Arg968Gln,ENST00000361217,NM_014856.2;DENND4B,missense_variant,p.Arg979Gln,ENST00000368646,;DENND4B,upstream_gene_variant,,ENST00000474386,;DENND4B,upstream_gene_variant,,ENST00000480340,;DENND4B,upstream_gene_variant,,ENST00000492898,;DENND4B,upstream_gene_variant,,ENST00000462423,;DENND4B,upstream_gene_variant,,ENST00000531748,;DENND4B,downstream_gene_variant,,ENST00000477746,;	T	ENST00000361217	Transcript	missense_variant	3322/5706	2903/4491	968/1496	R/Q	cGa/cAa	rs748707602,COSM2208183,COSM2208184	1		-1	DENND4B	HGNC	HGNC:29044	protein_coding	YES	CCDS44228.1	ENSP00000354597	O75064		UPI000047EA3E	NM_014856.2	tolerated(0.08)		19/28		hmmpanther:PTHR12296:SF18,hmmpanther:PTHR12296											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs748707602	.												T	3	4	46	153934173	153934173	C	T	1	0	0	0	0	1	0	0	0	4238	884	31	1		1	DENND4B	1	153934173	Missense_Mutation	SNP	C	C3N-00294_TP	1022668	153934173	95022249	68	13570											
NUP210L	0	.	GRCh38	chr1	154070466	154070466	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagtcttgatacaggaatCtgcattaaaataaaaagtaa	18	11	6	6	0	3	1	1	1	2	0	3	2	3	2	0	1	2	2	0	1	8	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2362-1G>A		p.X788_splice	ENST00000368559		87	74	13	54	54	0	strelka-varscan-mutect	NUP210L,splice_acceptor_variant,,ENST00000368559,NM_207308.2;NUP210L,splice_acceptor_variant,,ENST00000271854,NM_001159484.1;	T	ENST00000368559	Transcript	splice_acceptor_variant	-/5889	2362/5667	788/1888				1		-1	NUP210L	HGNC	HGNC:29915	protein_coding	YES	CCDS41399.1	ENSP00000357547	Q5VU65		UPI000023724F	NM_207308.2				16/39																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	46	154070466	154070466	C	T	1	0	0	0	0	0	0	1	0	10826	927	32	3		3	NUP210L	1	154070466	Splice_Site	SNP	C	C3N-00294_TP	136293	154070466	94885956	69	13571											
AQP10	0	.	GRCh38	chr1	154324395	154324395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctgagggcccagagcCagctcaggatctggtgtctg	7	7	13	14	0	3	2	1	1	2	1	3	3	3	3	4	3	2	1	4	3	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.821C>T	p.Pro274Leu	p.P274L	ENST00000324978	6/6	208	192	16	142	142	0	strelka-varscan-mutect	AQP10,missense_variant,p.Pro274Leu,ENST00000324978,NM_080429.2;AQP10,3_prime_UTR_variant,,ENST00000484864,;ATP8B2,upstream_gene_variant,,ENST00000368489,NM_020452.3;ATP8B2,upstream_gene_variant,,ENST00000368487,NM_001005855.1;ATP8B2,upstream_gene_variant,,ENST00000426445,;AQP10,downstream_gene_variant,,ENST00000355197,;ATP8B2,upstream_gene_variant,,ENST00000368490,;	T	ENST00000324978	Transcript	missense_variant	861/1791	821/906	274/301	P/L	cCa/cTa		1		1	AQP10	HGNC	HGNC:16029	protein_coding	YES	CCDS1065.1	ENSP00000318355	Q96PS8		UPI000007028A	NM_080429.2	tolerated(0.07)		6/6		hmmpanther:PTHR19139:SF138,hmmpanther:PTHR19139																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	154324395	154324395	C	T	1	0	0	0	0	1	0	0	0	945	594	21	3		3	AQP10	1	154324395	Missense_Mutation	SNP	C	C3N-00294_TP	253929	154324395	94632027	70	13572											
ASH1L	0	.	GRCh38	chr1	155349336	155349336	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtgaaaaatacctcagcattCcgaaagactttgagcatgtc	14	10	8	9	1	1	3	1	2	0	1	3	4	2	3	2	0	3	2	2	0	4	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.7545G>C	p.=	p.R2515R	ENST00000392403	19/28	137	118	19	89	89	0	strelka-varscan-mutect	ASH1L,synonymous_variant,p.=,ENST00000368346,;ASH1L,synonymous_variant,p.=,ENST00000392403,NM_018489.2;ASH1L,upstream_gene_variant,,ENST00000384987,;ASH1L,synonymous_variant,p.=,ENST00000492987,;ASH1L,upstream_gene_variant,,ENST00000478837,;ASH1L,upstream_gene_variant,,ENST00000548566,;	G	ENST00000392403	Transcript	synonymous_variant	8024/10979	7545/8895	2515/2964	R	cgG/cgC		1		-1	ASH1L	HGNC	HGNC:19088	protein_coding	YES	CCDS1113.2	ENSP00000376204	Q9NR48		UPI0000DACAC8	NM_018489.2			19/28		Gene3D:1.20.920.10,Pfam_domain:PF00439,PROSITE_profiles:PS50014,SMART_domains:SM00297,Superfamily_domains:SSF47370																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	46	155349336	155349336	C	G	1	0	0	0	0	0	0	0	1	1183	842	30	4		4	ASH1L	1	155349336	Silent	SNP	C	C3N-00294_TP	1024941	155349336	93607086	71	13573											
GON4L	0	.	GRCh38	chr1	155756994	155756994	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accccgatctcttttttcctCttgttctttgaggctgtggg	3	18	9	11	1	3	1	0	1	3	0	5	2	4	1	3	2	0	2	3	2	0	6	rs753140395		C3N-00294_TP	C3N-00294_NB	C	C																c.5481G>A	p.=	p.K1827K	ENST00000368331	27/32	265	236	29	222	221	1	strelka-varscan-mutect	GON4L,synonymous_variant,p.=,ENST00000368331,NM_001282860.1;GON4L,synonymous_variant,p.=,ENST00000615926,NM_001282856.1;GON4L,synonymous_variant,p.=,ENST00000437809,;GON4L,synonymous_variant,p.=,ENST00000271883,NM_001282858.1;GON4L,3_prime_UTR_variant,,ENST00000620426,;GON4L,non_coding_transcript_exon_variant,,ENST00000483032,;GON4L,non_coding_transcript_exon_variant,,ENST00000460075,;GON4L,upstream_gene_variant,,ENST00000473267,;	T	ENST00000368331	Transcript	synonymous_variant	5656/7823	5481/6726	1827/2241	K	aaG/aaA	rs753140395	1		-1	GON4L	HGNC	HGNC:25973	protein_coding	YES	CCDS60296.1	ENSP00000357315	Q3T8J9		UPI0000351551	NM_001282860.1			27/32		hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF11																	LOW	1	SNV	1			1										PASS		rs753140395	.												T	2	4	46	155756994	155756994	C	T	1	0	0	0	0	0	0	0	1	6466	912	32	3		3	GON4L	1	155756994	Silent	SNP	C	C3N-00294_TP	407658	155756994	93199428	72	13574											
IQGAP3	0	.	GRCh38	chr1	156527963	156527963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccctcacctgatagtgaaGctgaaatcgctccatgtcca	10	10	7	14	1	1	3	1	3	0	0	5	3	4	3	5	0	1	2	5	0	3	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4771C>G	p.Leu1591Val	p.L1591V	ENST00000361170	37/38	174	153	21	119	119	0	strelka-varscan-mutect	IQGAP3,missense_variant,p.Leu1591Val,ENST00000361170,NM_178229.4;IQGAP3,missense_variant,p.Leu1548Val,ENST00000491900,;	C	ENST00000361170	Transcript	missense_variant	4782/5988	4771/4896	1591/1631	L/V	Ctt/Gtt		1		-1	IQGAP3	HGNC	HGNC:20669	protein_coding	YES	CCDS1144.1	ENSP00000354451	Q86VI3		UPI000046FFDD	NM_178229.4	tolerated(0.07)		37/38		Low_complexity_(Seg):seg,hmmpanther:PTHR14149:SF10,hmmpanther:PTHR14149,Superfamily_domains:0050767																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	156527963	156527963	G	C	1	0	0	0	0	1	0	0	0	7722	971	34	4		4	IQGAP3	1	156527963	Missense_Mutation	SNP	G	C3N-00294_TP	770969	156527963	92428459	73	13575											
NES	0	.	GRCh38	chr1	156671778	156671778	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtgactttaagaactcttGattctcattttcaagaggtc	11	15	8	7	0	3	4	2	2	2	2	5	5	3	4	0	1	1	0	0	1	3	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2410C>G	p.Gln804Glu	p.Q804E	ENST00000368223	4/4	219	192	27	159	159	0	strelka-varscan-mutect	NES,missense_variant,p.Gln804Glu,ENST00000368223,NM_006617.1;	C	ENST00000368223	Transcript	missense_variant	2543/5558	2410/4866	804/1621	Q/E	Caa/Gaa		1		-1	NES	HGNC	HGNC:7756	protein_coding	YES	CCDS1151.1	ENSP00000357206	P48681		UPI0000213DC0	NM_006617.1	tolerated(0.06)		4/4																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	156671778	156671778	G	C	1	0	0	0	0	1	0	0	0	10372	1299	45	4		4	NES	1	156671778	Missense_Mutation	SNP	G	C3N-00294_TP	143815	156671778	92284644	74	13576											
HDGF	0	.	GRCh38	chr1	156744228	156744228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctccttggctggctcatCaatgaccagcttcccttcct	5	14	6	16	0	3	1	2	1	1	0	6	1	5	1	4	2	1	3	4	2	1	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.472G>A	p.Asp158Asn	p.D158N	ENST00000368206	4/6	606	518	88	527	527	0	strelka-varscan-mutect	HDGF,missense_variant,p.Asp142Asn,ENST00000357325,NM_004494.2;HDGF,missense_variant,p.Asp135Asn,ENST00000368209,NM_001126051.1;HDGF,missense_variant,p.Asp142Asn,ENST00000537739,;HDGF,missense_variant,p.Asp158Asn,ENST00000368206,NM_001126050.1;MRPL24,upstream_gene_variant,,ENST00000434558,;MRPL24,upstream_gene_variant,,ENST00000361531,;MRPL24,upstream_gene_variant,,ENST00000368211,NM_145729.2,NM_024540.3;MRPL24,upstream_gene_variant,,ENST00000412846,;MRPL24,upstream_gene_variant,,ENST00000420938,;HDGF,non_coding_transcript_exon_variant,,ENST00000465180,;HDGF,non_coding_transcript_exon_variant,,ENST00000482651,;HDGF,non_coding_transcript_exon_variant,,ENST00000469145,;HDGF,non_coding_transcript_exon_variant,,ENST00000495212,;HDGF,non_coding_transcript_exon_variant,,ENST00000477306,;HDGF,non_coding_transcript_exon_variant,,ENST00000471377,;	T	ENST00000368206	Transcript	missense_variant	557/960	472/771	158/256	D/N	Gat/Aat		1		-1	HDGF	HGNC	HGNC:4856	protein_coding	YES	CCDS44247.1	ENSP00000357189	P51858		UPI00004701A4	NM_001126050.1	deleterious(0)		4/6		hmmpanther:PTHR12550																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	46	156744228	156744228	C	T	1	0	0	0	0	1	0	0	0	6905	826	29	3		3	HDGF	1	156744228	Missense_Mutation	SNP	C	C3N-00294_TP	72450	156744228	92212194	75	13577											
ETV3	0	.	GRCh38	chr1	157125966	157125966	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttggcactggtggtgcactCtgaggaaccacacctgtgat	8	10	13	10	0	1	2	0	2	1	0	1	3	1	3	2	4	2	3	2	4	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.414G>C	p.Gln138His	p.Q138H	ENST00000368192	5/5	104	86	18	60	60	0	strelka-varscan-mutect	ETV3,missense_variant,p.Gln138His,ENST00000368192,NM_001145312.1;CYCSP52,upstream_gene_variant,,ENST00000422857,;	G	ENST00000368192	Transcript	missense_variant	479/5254	414/1539	138/512	Q/H	caG/caC		1		-1	ETV3	HGNC	HGNC:3492	protein_coding	YES	CCDS44250.1	ENSP00000357175	P41162		UPI0000071047	NM_001145312.1	deleterious(0.01)		5/5		hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF30,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		rs1223278264	.												G	3	3	46	157125966	157125966	C	G	1	0	0	0	0	1	0	0	0	5143	912	32	4		4	ETV3	1	157125966	Missense_Mutation	SNP	C	C3N-00294_TP	381738	157125966	91830456	76	13578											
FCRL4	0	.	GRCh38	chr1	157587354	157587354	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccacaccaataggatcCtgagttttctctccagacgg	11	9	8	13	1	1	2	0	1	1	1	4	3	3	3	4	2	1	2	4	2	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.769G>T	p.Gly257Ter	p.G257*	ENST00000271532	5/12	412	175	237	313	312	1	strelka-varscan-mutect	FCRL4,stop_gained,p.Gly257Ter,ENST00000271532,NM_031282.2;FCRL4,non_coding_transcript_exon_variant,,ENST00000448509,;	A	ENST00000271532	Transcript	stop_gained	905/3459	769/1548	257/515	G/*	Gga/Tga		1		-1	FCRL4	HGNC	HGNC:18507	protein_coding	YES	CCDS1166.1	ENSP00000271532	Q96PJ5		UPI000006E26B	NM_031282.2			5/12		PROSITE_profiles:PS50835,hmmpanther:PTHR11481:SF59,hmmpanther:PTHR11481,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	46	157587354	157587354	C	A	1	0	0	0	0	0	1	0	0	5659	690	24	2		2	FCRL4	1	157587354	Nonsense_Mutation	SNP	C	C3N-00294_TP	461388	157587354	91369068	77	13579											
KIRREL	0	.	GRCh38	chr1	158094696	158094696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatgaagaccgcccgtcttCcagggcagtgctctatgctg	7	9	11	14	2	2	2	0	1	2	1	3	2	3	2	4	1	2	3	4	1	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1850C>A	p.Ser617Tyr	p.S617Y	ENST00000359209	15/15	174	149	25	137	137	0	strelka-varscan-mutect	KIRREL,missense_variant,p.Ser517Tyr,ENST00000368173,NM_001286349.1;KIRREL,missense_variant,p.Ser431Tyr,ENST00000368172,;KIRREL,missense_variant,p.Ser453Tyr,ENST00000360089,;KIRREL,missense_variant,p.Ser617Tyr,ENST00000359209,NM_018240.6;	A	ENST00000359209	Transcript	missense_variant	1917/2874	1850/2274	617/757	S/Y	tCc/tAc		1		1	KIRREL	HGNC	HGNC:15734	protein_coding	YES	CCDS1172.2	ENSP00000352138	Q96J84		UPI0000443FBD	NM_018240.6	deleterious(0)		15/15		hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	158094696	158094696	C	A	1	0	0	0	0	1	0	0	0	8188	855	30	2		2	KIRREL	1	158094696	Missense_Mutation	SNP	C	C3N-00294_TP	507342	158094696	90861726	78	13580											
SPTA1	0	.	GRCh38	chr1	158671384	158671384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaaaggcttcctcaaagtCttcatgcttctgaagaaggg	12	11	10	8	0	4	2	2	1	2	1	5	2	5	2	1	2	1	3	1	2	5	4			C3N-00294_TP	C3N-00294_NB	C	C																c.1558G>A	p.Asp520Asn	p.D520N	ENST00000368147	12/52	583	509	74	429	429	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Asp520Asn,ENST00000368147,NM_003126.2;	T	ENST00000368147	Transcript	missense_variant	1739/7999	1558/7260	520/2419	D/N	Gac/Aac	COSM164577	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	tolerated(0.11)		12/52		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	46	158671384	158671384	C	T	1	0	0	0	0	1	0	0	0	15472	913	32	3		3	SPTA1	1	158671384	Missense_Mutation	SNP	C	C3N-00294_TP	576688	158671384	90285038	79	13581											
SPTA1	0	.	GRCh38	chr1	158680681	158680681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatttcttatgcagaacttCggtgcgctcccagtcttcac	9	13	7	12	2	3	1	1	0	2	1	5	1	4	1	1	1	3	2	1	1	3	4	rs367689703		C3N-00294_TP	C3N-00294_NB	C	C																c.580G>A	p.Glu194Lys	p.E194K	ENST00000368147	5/52	645	558	87	409	408	1	strelka-varscan-mutect	SPTA1,missense_variant,p.Glu194Lys,ENST00000368147,NM_003126.2;SPTA1,intron_variant,,ENST00000467387,;	T	ENST00000368147	Transcript	missense_variant	761/7999	580/7260	194/2419	E/K	Gaa/Aaa	rs367689703	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0)		5/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		rs367689703	.												T	3	4	46	158680681	158680681	C	T	1	0	0	0	0	1	0	0	0	15472	893	31	1		1	SPTA1	1	158680681	Missense_Mutation	SNP	C	C3N-00294_TP	9297	158680681	90275741	80	13582											
FCER1A	0	.	GRCh38	chr1	159307832	159307832	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacacaggattatttatctCaactcagcagcaggtcacat	13	10	8	10	0	3	0	3	0	1	0	4	2	3	2	0	3	3	2	0	3	3	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.674C>G	p.Ser225Ter	p.S225*	ENST00000368115	6/6	165	144	21	142	142	0	strelka-varscan-mutect	FCER1A,stop_gained,p.Ser225Ter,ENST00000368115,NM_002001.3;FCER1A,stop_gained,p.Ser192Ter,ENST00000368114,;	G	ENST00000368115	Transcript	stop_gained	773/1165	674/774	225/257	S/*	tCa/tGa		1		1	FCER1A	HGNC	HGNC:3609	protein_coding	YES	CCDS1184.1	ENSP00000357097	P12319		UPI000002CFDB	NM_002001.3			6/6		hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF12,Transmembrane_helices:TMhelix																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	46	159307832	159307832	C	G	1	0	0	0	0	0	1	0	0	5637	838	29	4		4	FCER1A	1	159307832	Nonsense_Mutation	SNP	C	C3N-00294_TP	627151	159307832	89648590	81	13583											
SLAMF8	0	.	GRCh38	chr1	159833285	159833285	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggaaggcctcctacaaaGatgtgctgctggtggtggtg	8	9	16	8	0	0	1	0	0	0	1	1	2	1	2	2	5	3	2	2	5	3	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.697G>C	p.Asp233His	p.D233H	ENST00000289707	4/5	345	293	52	241	241	0	strelka-varscan-mutect	SLAMF8,missense_variant,p.Asp233His,ENST00000289707,NM_020125.2;SLAMF8,missense_variant,p.Asp124His,ENST00000368104,;C1orf204,downstream_gene_variant,,ENST00000368102,NM_001134233.1;C1orf204,downstream_gene_variant,,ENST00000621242,;SLAMF8,non_coding_transcript_exon_variant,,ENST00000471286,;SLAMF8,non_coding_transcript_exon_variant,,ENST00000497141,;C1orf204,downstream_gene_variant,,ENST00000491974,;	C	ENST00000289707	Transcript	missense_variant	846/2996	697/858	233/285	D/H	Gat/Cat		1		1	SLAMF8	HGNC	HGNC:21391	protein_coding	YES	CCDS1188.1	ENSP00000289707	Q9P0V8		UPI000003E841	NM_020125.2	deleterious(0.02)		4/5		hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF55																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	159833285	159833285	G	C	1	0	0	0	0	1	0	0	0	14635	942	33	4		4	SLAMF8	1	159833285	Missense_Mutation	SNP	G	C3N-00294_TP	525453	159833285	89123137	82	13584											
SLAMF7	0	.	GRCh38	chr1	160753105	160753105	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctttttgtctgtcttcaGatggaaaatccccactcact	8	17	5	11	0	5	1	2	0	3	1	6	2	6	2	2	1	0	0	2	1	2	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.937-1G>A		p.X313_splice	ENST00000368043		220	183	37	143	143	0	strelka-varscan-mutect	SLAMF7,splice_acceptor_variant,,ENST00000368043,NM_021181.4;SLAMF7,splice_acceptor_variant,,ENST00000621377,NM_001282594.1;SLAMF7,splice_acceptor_variant,,ENST00000359331,NM_001282592.1,NM_001282596.1;SLAMF7,splice_acceptor_variant,,ENST00000441662,NM_001282589.1;SLAMF7,splice_acceptor_variant,,ENST00000458602,NM_001282591.1;SLAMF7,splice_acceptor_variant,,ENST00000444090,NM_001282588.1;SLAMF7,splice_acceptor_variant,,ENST00000368042,NM_001282595.1,NM_001282590.1;SLAMF7,splice_acceptor_variant,,ENST00000458104,NM_001282593.1;SLAMF7,downstream_gene_variant,,ENST00000495334,;SLAMF7,downstream_gene_variant,,ENST00000488819,;SLAMF7,splice_acceptor_variant,,ENST00000484221,;	A	ENST00000368043	Transcript	splice_acceptor_variant	-/2689	937/1008	313/335				1		1	SLAMF7	HGNC	HGNC:21394	protein_coding	YES	CCDS1209.1	ENSP00000357022	Q9NQ25		UPI00000389DC	NM_021181.4				6/6																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	46	160753105	160753105	G	A	1	0	0	0	0	0	0	1	0	14634	956	33	3		3	SLAMF7	1	160753105	Splice_Site	SNP	G	C3N-00294_TP	919820	160753105	88203317	83	13585											
ADAMTS4	0	.	GRCh38	chr1	161198188	161198188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtaacacgcctaacagggctCccccatcccagtgcagagat	11	6	9	15	1	0	1	0	0	0	1	2	2	2	1	4	1	3	3	4	1	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.440G>A	p.Gly147Glu	p.G147E	ENST00000367996	1/9	257	224	33	180	180	0	strelka-varscan-mutect	ADAMTS4,missense_variant,p.Gly147Glu,ENST00000367996,NM_005099.4;ADAMTS4,missense_variant,p.Gly147Glu,ENST00000367995,;NDUFS2,upstream_gene_variant,,ENST00000392179,NM_001166159.1;NDUFS2,upstream_gene_variant,,ENST00000367993,NM_004550.4;NDUFS2,intron_variant,,ENST00000496133,;NDUFS2,intron_variant,,ENST00000479948,;NDUFS2,upstream_gene_variant,,ENST00000478866,;NDUFS2,upstream_gene_variant,,ENST00000467295,;NDUFS2,upstream_gene_variant,,ENST00000496553,;NDUFS2,upstream_gene_variant,,ENST00000475570,;ADAMTS4,upstream_gene_variant,,ENST00000478394,;	T	ENST00000367996	Transcript	missense_variant	869/9773	440/2514	147/837	G/E	gGa/gAa		1		-1	ADAMTS4	HGNC	HGNC:220	protein_coding	YES	CCDS1223.1	ENSP00000356975	O75173		UPI000014194C	NM_005099.4	deleterious(0.01)		1/9		hmmpanther:PTHR13723:SF38,hmmpanther:PTHR13723,Pfam_domain:PF01562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	161198188	161198188	C	T	1	0	0	0	0	1	0	0	0	312	855	30	3		3	ADAMTS4	1	161198188	Missense_Mutation	SNP	C	C3N-00294_TP	445083	161198188	87758234	84	13586											
HSPA6	0	.	GRCh38	chr1	161526042	161526042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaacctgctggggcgttttGaactcagtggcatccctcct	7	11	10	13	1	1	1	1	1	0	0	3	1	3	1	3	3	3	3	3	3	2	2	rs779930805		C3N-00294_TP	C3N-00294_NB	G	G																c.1384G>A	p.Glu462Lys	p.E462K	ENST00000309758	1/1	115	93	22	103	103	0	strelka-varscan-mutect	HSPA6,missense_variant,p.Glu462Lys,ENST00000309758,NM_002155.4;RP11-25K21.6,intron_variant,,ENST00000537821,;FCGR2A,downstream_gene_variant,,ENST00000491841,;FCGR2A,downstream_gene_variant,,ENST00000467525,;	A	ENST00000309758	Transcript	missense_variant	1503/2371	1384/1932	462/643	E/K	Gaa/Aaa	rs779930805	1		1	HSPA6	HGNC	HGNC:5239	protein_coding	YES	CCDS1231.1	ENSP00000310219	P17066		UPI0000074238	NM_002155.4	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF168,Pfam_domain:PF00012,Gene3D:2.60.34.10,Superfamily_domains:SSF100920																	MODERATE		SNV				1										PASS		rs779930805	.												A	3	1	46	161526042	161526042	G	A	1	0	0	0	0	1	0	0	0	7311	1291	45	3		3	HSPA6	1	161526042	Missense_Mutation	SNP	G	C3N-00294_TP	327854	161526042	87430380	85	13587											
NUF2	0	.	GRCh38	chr1	163349036	163349036	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaaattaaacttggaattCaacaactaaaagatgctgct	20	10	5	6	0	1	1	1	0	0	1	1	2	1	2	0	1	5	2	0	1	10	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1216C>T	p.Gln406Ter	p.Q406*	ENST00000271452	13/14	89	73	16	138	138	0	strelka-varscan-mutect	NUF2,stop_gained,p.Gln406Ter,ENST00000271452,NM_145697.2;NUF2,stop_gained,p.Gln359Ter,ENST00000524800,;NUF2,stop_gained,p.Gln406Ter,ENST00000367900,NM_031423.3;NUF2,downstream_gene_variant,,ENST00000527439,;NUF2,downstream_gene_variant,,ENST00000497990,;	T	ENST00000271452	Transcript	stop_gained	1495/1969	1216/1395	406/464	Q/*	Caa/Taa		1		1	NUF2	HGNC	HGNC:14621	protein_coding	YES	CCDS1245.1	ENSP00000271452	Q9BZD4		UPI000006D211	NM_145697.2			13/14		hmmpanther:PTHR21650																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	46	163349036	163349036	C	T	1	0	0	0	0	0	1	0	0	10811	827	29	3		3	NUF2	1	163349036	Nonsense_Mutation	SNP	C	C3N-00294_TP	1822994	163349036	85607386	86	13588											
RXRG	0	.	GRCh38	chr1	165410774	165410774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatacgcttggcccattcaaCgagggtgaaaagctgcttgt	11	10	11	9	2	1	1	1	1	0	0	1	2	1	1	1	2	4	3	1	2	5	4			C3N-00294_TP	C3N-00294_NB	C	C																c.841G>A	p.Val281Ile	p.V281I	ENST00000359842	6/10	302	272	30	242	241	1	strelka-varscan-mutect	RXRG,missense_variant,p.Val158Ile,ENST00000619224,NM_001256570.1,NM_001256571.1;RXRG,missense_variant,p.Val281Ile,ENST00000359842,NM_006917.4;RXRG,non_coding_transcript_exon_variant,,ENST00000470566,;	T	ENST00000359842	Transcript	missense_variant	1144/2041	841/1392	281/463	V/I	Gtt/Att	COSM1335900	1		-1	RXRG	HGNC	HGNC:10479	protein_coding	YES	CCDS1248.1	ENSP00000352900	P48443	F1D8Q7	UPI000004989F	NM_006917.4	tolerated(0.11)		6/10		hmmpanther:PTHR24083:SF95,hmmpanther:PTHR24083,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR00398											1						MODERATE	1	SNV	1		1	1										PASS		rs1416940954	.												T	3	4	46	165410774	165410774	C	T	1	0	0	0	0	1	0	0	0	14026	536	19	1		1	RXRG	1	165410774	Missense_Mutation	SNP	C	C3N-00294_TP	2061738	165410774	83545648	87	13589											
UCK2	0	.	GRCh38	chr1	165903270	165903270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcctgcctttgaggaattCtgcttgccagtgagttgtgt	7	14	12	8	0	1	2	0	2	1	0	1	3	1	3	3	1	4	2	3	1	2	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.588C>G	p.Phe196Leu	p.F196L	ENST00000367879	5/7	219	184	35	164	164	0	strelka-varscan-mutect	UCK2,missense_variant,p.Phe196Leu,ENST00000367879,NM_012474.4;UCK2,missense_variant,p.Phe46Leu,ENST00000470820,;UCK2,missense_variant,p.Phe46Leu,ENST00000469256,;UCK2,upstream_gene_variant,,ENST00000636291,;RP11-525G13.2,upstream_gene_variant,,ENST00000626270,;RP11-525G13.2,upstream_gene_variant,,ENST00000455257,;UCK2,non_coding_transcript_exon_variant,,ENST00000462329,;UCK2,non_coding_transcript_exon_variant,,ENST00000464197,;UCK2,non_coding_transcript_exon_variant,,ENST00000463772,;UCK2,upstream_gene_variant,,ENST00000475333,;UCK2,non_coding_transcript_exon_variant,,ENST00000479872,;	G	ENST00000367879	Transcript	missense_variant	891/1375	588/786	196/261	F/L	ttC/ttG		1		1	UCK2	HGNC	HGNC:12562	protein_coding	YES	CCDS1252.1	ENSP00000356853	Q9BZX2	A0A024R912	UPI000003AFFE	NM_012474.4	deleterious(0)		5/7		Gene3D:3.40.50.300,Pfam_domain:PF00485,Prints_domain:PR00988,hmmpanther:PTHR10285,hmmpanther:PTHR10285:SF28,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00235																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	165903270	165903270	C	G	1	0	0	0	0	1	0	0	0	17448	912	32	4		4	UCK2	1	165903270	Missense_Mutation	SNP	C	C3N-00294_TP	492496	165903270	83053152	88	13590											
ILDR2	0	.	GRCh38	chr1	166921229	166921229	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccgagcgctcgaagcggctCccgccccgcgcctcgtgact	4	6	12	19	8	0	1	0	1	0	0	4	3	2	1	5	1	2	2	5	1	1	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1362G>A	p.=	p.G454G	ENST00000271417	9/10	189	158	31	116	116	0	strelka-varscan-mutect	ILDR2,synonymous_variant,p.=,ENST00000271417,NM_199351.2;ILDR2,synonymous_variant,p.=,ENST00000529071,;ILDR2,synonymous_variant,p.=,ENST00000528703,;ILDR2,synonymous_variant,p.=,ENST00000526687,;ILDR2,synonymous_variant,p.=,ENST00000525740,;ILDR2,intron_variant,,ENST00000469934,;ILDR2,intron_variant,,ENST00000529387,;ILDR2,upstream_gene_variant,,ENST00000614979,;	T	ENST00000271417	Transcript	synonymous_variant	1418/13140	1362/1920	454/639	G	ggG/ggA		1		-1	ILDR2	HGNC	HGNC:18131	protein_coding	YES	CCDS1256.1	ENSP00000271417	Q71H61		UPI00002317DF	NM_199351.2			9/10		hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	166921229	166921229	C	T	1	0	0	0	0	0	0	0	1	7613	842	30	3		3	ILDR2	1	166921229	Silent	SNP	C	C3N-00294_TP	1017959	166921229	82035193	89	13591											
F5	0	.	GRCh38	chr1	169523206	169523206	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcacacaaaccatcacattCcttgtgctgttccctttgaa	10	13	5	13	0	1	1	1	1	0	0	3	1	3	1	3	0	3	3	3	0	2	4	rs767055534		C3N-00294_TP	C3N-00294_NB	C	C																c.6039G>A	p.=	p.R2013R	ENST00000367797	21/25	415	364	51	335	334	1	strelka-mutect	F5,synonymous_variant,p.=,ENST00000367796,;F5,synonymous_variant,p.=,ENST00000367797,NM_000130.4;	T	ENST00000367797	Transcript	synonymous_variant	6241/7024	6039/6675	2013/2224	R	agG/agA	rs767055534,COSM3771512	1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4			21/25		PROSITE_profiles:PS50022,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,Gene3D:2.60.120.260,PIRSF_domain:PIRSF000354,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785											0,1						LOW	1	SNV	1		0,1	1										PASS		rs767055534	.												T	2	4	46	169523206	169523206	C	T	1	0	0	0	0	0	0	0	1	5216	854	30	3		3	F5	1	169523206	Silent	SNP	C	C3N-00294_TP	2601977	169523206	79433216	90	13592											
F5	0	.	GRCh38	chr1	169540502	169540502	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttcactgctctggacctCttcctttggaatgatctcaa	8	15	6	12	0	5	1	2	1	4	0	7	3	6	3	2	2	1	1	2	2	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.4588G>C	p.Glu1530Gln	p.E1530Q	ENST00000367797	13/25	528	445	83	485	485	0	strelka-varscan-mutect	F5,missense_variant,p.Glu1535Gln,ENST00000367796,;F5,missense_variant,p.Glu1530Gln,ENST00000367797,NM_000130.4;	G	ENST00000367797	Transcript	missense_variant	4790/7024	4588/6675	1530/2224	E/Q	Gag/Cag		1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4	tolerated(0.12)		13/25		PIRSF_domain:PIRSF000354																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	169540502	169540502	C	G	1	0	0	0	0	1	0	0	0	5216	922	32	4		4	F5	1	169540502	Missense_Mutation	SNP	C	C3N-00294_TP	17296	169540502	79415920	91	13593											
C1orf105	0	.	GRCh38	chr1	172468475	172468475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcactacagactgcccattCtgggccccaggacagctgtc	8	9	9	15	0	2	1	1	0	1	1	3	2	2	2	3	2	3	1	3	2	1	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.433C>G	p.Leu145Val	p.L145V	ENST00000367727	7/7	121	100	21	87	87	0	strelka-varscan-mutect	C1orf105,missense_variant,p.Leu145Val,ENST00000367727,NM_139240.3;C1orf105,missense_variant,p.Leu135Val,ENST00000367725,NM_001300760.1;C1orf105,downstream_gene_variant,,ENST00000488100,;C1orf105,non_coding_transcript_exon_variant,,ENST00000367726,;	G	ENST00000367727	Transcript	missense_variant	631/985	433/552	145/183	L/V	Ctg/Gtg		1		1	C1orf105	HGNC	HGNC:29591	protein_coding	YES	CCDS1301.1	ENSP00000356700	O95561		UPI000006D456	NM_139240.3	tolerated(0.1)		7/7		Pfam_domain:PF15081,hmmpanther:PTHR39410,hmmpanther:PTHR39410:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	172468475	172468475	C	G	1	0	0	0	0	1	0	0	0	1955	912	32	4		4	C1orf105	1	172468475	Missense_Mutation	SNP	C	C3N-00294_TP	2927973	172468475	76487947	92	13594											
DARS2	0	.	GRCh38	chr1	173857679	173857679	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgagtctccaagccaacaGactccaaagcagaaagagct	15	5	8	13	1	1	3	0	0	1	3	4	4	3	3	4	0	4	2	4	0	4	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1912G>C	p.Asp638His	p.D638H	ENST00000361951	17/17	409	353	56	307	307	0	strelka-varscan-mutect	DARS2,missense_variant,p.Asp638His,ENST00000361951,NM_018122.4;DARS2,non_coding_transcript_exon_variant,,ENST00000471476,;	C	ENST00000361951	Transcript	missense_variant	2639/3506	1912/1938	638/645	D/H	Gac/Cac		1		1	DARS2	HGNC	HGNC:25538	protein_coding	YES	CCDS1311.1	ENSP00000355086	Q6PI48	A0A024R8Z9	UPI00001C1D5B	NM_018122.4	deleterious_low_confidence(0.03)		17/17																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	173857679	173857679	G	C	1	0	0	0	0	1	0	0	0	4042	942	33	4		4	DARS2	1	173857679	Missense_Mutation	SNP	G	C3N-00294_TP	1389204	173857679	75098743	93	13595											
GPR52	0	.	GRCh38	chr1	174448990	174448990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagaaagctcccgggtcttGgacaatccaactctgtcctt	9	11	8	13	1	2	1	0	0	2	1	5	2	5	2	3	2	2	1	3	2	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.879G>C	p.Leu293Phe	p.L293F	ENST00000367685	1/1	200	168	32	136	136	0	strelka-varscan-mutect	GPR52,missense_variant,p.Leu293Phe,ENST00000367685,NM_005684.4;RABGAP1L,intron_variant,,ENST00000251507,NM_014857.4;RABGAP1L,intron_variant,,ENST00000357444,;RABGAP1L,intron_variant,,ENST00000367690,;RABGAP1L,intron_variant,,ENST00000526253,;	C	ENST00000367685	Transcript	missense_variant	880/1088	879/1086	293/361	L/F	ttG/ttC		1		1	GPR52	HGNC	HGNC:4508	protein_coding	YES	CCDS30941.1	ENSP00000356658	Q9Y2T5	F2YGU0	UPI0000153A3C	NM_005684.4	tolerated(0.28)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF248,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												C	3	2	46	174448990	174448990	G	C	1	0	0	0	0	1	0	0	0	6583	1339	47	4		4	GPR52	1	174448990	Missense_Mutation	SNP	G	C3N-00294_TP	591311	174448990	74507432	94	13596											
TNN	0	.	GRCh38	chr1	175077433	175077433	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaggatgagtctccaggaGatgttccgcttccctatggg	8	10	12	11	1	1	2	0	1	1	1	4	4	3	3	4	3	0	2	4	3	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.15G>C	p.Glu5Asp	p.E5D	ENST00000239462	2/19	102	86	16	79	79	0	strelka-varscan-mutect	TNN,missense_variant,p.Glu5Asp,ENST00000239462,NM_022093.1;TNN,missense_variant,p.Glu5Asp,ENST00000621086,;TNN,missense_variant,p.Glu5Asp,ENST00000622870,;	C	ENST00000239462	Transcript	missense_variant	128/5008	15/3900	5/1299	E/D	gaG/gaC		1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1	tolerated_low_confidence(0.16)		2/19		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	46	175077433	175077433	G	C	1	0	0	0	0	1	0	0	0	16796	933	33	4		4	TNN	1	175077433	Missense_Mutation	SNP	G	C3N-00294_TP	628443	175077433	73878989	95	13597											
TNN	0	.	GRCh38	chr1	175098549	175098549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtgcacgtgtgggcccaGaagggggaccaggagagcaa	11	4	18	8	1	0	2	0	0	0	2	0	4	0	3	2	5	2	2	2	5	2	0			C3N-00294_TP	C3N-00294_NB	G	G																c.2073G>A	p.=	p.Q691Q	ENST00000239462	9/19	424	363	61	324	324	0	strelka-varscan-mutect	TNN,synonymous_variant,p.=,ENST00000239462,NM_022093.1;TNN,intron_variant,,ENST00000621086,;TNN,intron_variant,,ENST00000622870,;	A	ENST00000239462	Transcript	synonymous_variant	2186/5008	2073/3900	691/1299	Q	caG/caA	COSM122097	1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1			9/19		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265											1						LOW	1	SNV	2		1	1										PASS		rs989120933	.												A	2	1	46	175098549	175098549	G	A	1	0	0	0	0	0	0	0	1	16796	933	33	3		3	TNN	1	175098549	Silent	SNP	G	C3N-00294_TP	21116	175098549	73857873	96	13598											
PAPPA2	0	.	GRCh38	chr1	176594952	176594952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcattcaagtggggaggagGaagcgactgacttggtcctg	10	8	16	7	1	1	1	1	1	0	0	2	5	2	4	1	5	2	1	1	5	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1348G>A	p.Glu450Lys	p.E450K	ENST00000367662	3/23	374	314	60	283	282	1	strelka-varscan-mutect	PAPPA2,missense_variant,p.Glu450Lys,ENST00000367662,NM_020318.2;PAPPA2,missense_variant,p.Glu450Lys,ENST00000367661,NM_021936.2;	A	ENST00000367662	Transcript	missense_variant	2512/9691	1348/5376	450/1791	E/K	Gaa/Aaa		1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2	tolerated(0.33)		3/23																			MODERATE	1	SNV	1			1										PASS		rs1267699588	.												A	3	1	46	176594952	176594952	G	A	1	0	0	0	0	1	0	0	0	11513	1175	41	3		3	PAPPA2	1	176594952	Missense_Mutation	SNP	G	C3N-00294_TP	1496403	176594952	72361470	97	13599											
RASAL2	0	.	GRCh38	chr1	178445585	178445585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatgatgtcttgatcttcaGagagaacactattgccacca	12	11	8	10	0	3	4	1	2	2	2	3	5	3	4	2	0	2	1	2	0	2	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1550G>C	p.Arg517Thr	p.R517T	ENST00000367649	9/18	245	210	35	171	171	0	strelka-varscan-mutect	RASAL2,missense_variant,p.Arg369Thr,ENST00000462775,NM_004841.3;RASAL2,missense_variant,p.Arg517Thr,ENST00000367649,NM_170692.2;	C	ENST00000367649	Transcript	missense_variant	1902/4378	1550/3843	517/1280	R/T	aGa/aCa		1		1	RASAL2	HGNC	HGNC:9874	protein_coding	YES	CCDS1321.2	ENSP00000356621	Q9UJF2		UPI00019B254F	NM_170692.2	deleterious(0)		9/18		Gene3D:1.10.506.10,PROSITE_profiles:PS50018,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF52,SMART_domains:SM00323,Superfamily_domains:SSF48350																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	178445585	178445585	G	C	1	0	0	0	0	1	0	0	0	13225	942	33	4		4	RASAL2	1	178445585	Missense_Mutation	SNP	G	C3N-00294_TP	1850633	178445585	70510837	98	13600											
XPR1	0	.	GRCh38	chr1	180803397	180803397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcttatagagaagctcgCagaggctcagcgcaggtttg	10	11	12	8	2	2	2	1	0	1	2	3	3	2	2	0	2	2	5	0	2	3	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.233C>A	p.Ala78Glu	p.A78E	ENST00000367590	4/15	208	172	36	134	133	1	strelka-varscan-mutect	XPR1,missense_variant,p.Ala78Glu,ENST00000367590,NM_004736.3;XPR1,missense_variant,p.Ala78Glu,ENST00000367589,NM_001135669.1;	A	ENST00000367590	Transcript	missense_variant	431/8474	233/2091	78/696	A/E	gCa/gAa		1		1	XPR1	HGNC	HGNC:12827	protein_coding	YES	CCDS1340.1	ENSP00000356562	Q9UBH6	A0A024R911	UPI0000071111	NM_004736.3	deleterious(0)		4/15		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51382,hmmpanther:PTHR10783,hmmpanther:PTHR10783:SF40,Pfam_domain:PF03105																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	180803397	180803397	C	A	1	0	0	0	0	1	0	0	0	18010	710	25	2		2	XPR1	1	180803397	Missense_Mutation	SNP	C	C3N-00294_TP	2357812	180803397	68153025	99	13601											
TEDDM1	0	.	GRCh38	chr1	182400458	182400458	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	attcctgggagagcacaaagGatacaggagacaacctttga	15	7	11	8	0	0	3	0	1	0	2	1	6	1	4	2	3	3	1	2	3	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.28C>G	p.Pro10Ala	p.P10A	ENST00000367565	1/1	105	88	17	79	79	0	strelka-varscan-mutect	TEDDM1,missense_variant,p.Pro10Ala,ENST00000367565,NM_172000.3;	C	ENST00000367565	Transcript	missense_variant	159/2500	28/822	10/273	P/A	Cct/Gct		1		-1	TEDDM1	HGNC	HGNC:30233	protein_coding	YES	CCDS30953.1	ENSP00000356536	Q5T9Z0		UPI0000470B8B	NM_172000.3	deleterious(0.04)		1/1		hmmpanther:PTHR16007,hmmpanther:PTHR16007:SF16																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	46	182400458	182400458	G	C	1	0	0	0	0	1	0	0	0	16160	1174	41	4		4	TEDDM1	1	182400458	Missense_Mutation	SNP	G	C3N-00294_TP	1597061	182400458	66555964	100	13602											
LAMC1	0	.	GRCh38	chr1	183134752	183134752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggacctcagagaagatatGagagggaaggaacttgaagt	16	6	15	4	0	1	4	1	2	0	3	1	10	1	7	1	3	1	0	1	3	5	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3942G>A	p.Met1314Ile	p.M1314I	ENST00000258341	23/28	118	104	14	117	116	1	strelka-varscan-mutect	LAMC1,missense_variant,p.Met1314Ile,ENST00000258341,NM_002293.3;RP11-181K3.4,downstream_gene_variant,,ENST00000457852,;LAMC1,non_coding_transcript_exon_variant,,ENST00000495918,;LAMC1,downstream_gene_variant,,ENST00000478064,;	A	ENST00000258341	Transcript	missense_variant	4199/7889	3942/4830	1314/1609	M/I	atG/atA		1		1	LAMC1	HGNC	HGNC:6492	protein_coding	YES	CCDS1351.1	ENSP00000258341	P11047		UPI000013CFC7	NM_002293.3	tolerated(0.28)		23/28		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF270,Superfamily_domains:SSF57997																	MODERATE	1	SNV	1			1										PASS		rs1465090734	.												A	3	1	46	183134752	183134752	G	A	1	0	0	0	0	1	0	0	0	8518	1290	45	3		3	LAMC1	1	183134752	Missense_Mutation	SNP	G	C3N-00294_TP	734294	183134752	65821670	101	13603											
SMG7	0	.	GRCh38	chr1	183537204	183537204	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccccatgaagaggacctctCaagtattagtggtaagggct	11	10	11	9	0	1	2	1	1	1	1	3	3	2	3	3	3	0	3	3	3	5	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1223C>G	p.Ser408Ter	p.S408*	ENST00000507469	11/23	155	133	22	128	128	0	strelka-varscan-mutect	SMG7,stop_gained,p.Ser437Ter,ENST00000367537,;SMG7,stop_gained,p.Ser408Ter,ENST00000347615,NM_173156.2;SMG7,stop_gained,p.Ser408Ter,ENST00000515829,NM_201568.2;SMG7,stop_gained,p.Ser408Ter,ENST00000507469,NM_201569.2;SMG7,stop_gained,p.Ser366Ter,ENST00000508461,NM_001174061.1;SMG7,stop_gained,p.Ser366Ter,ENST00000419169,;	G	ENST00000507469	Transcript	stop_gained	1341/4642	1223/3537	408/1178	S/*	tCa/tGa		1		1	SMG7	HGNC	HGNC:16792	protein_coding	YES	CCDS41445.2	ENSP00000425133	Q92540		UPI0000D6205B	NM_201569.2			11/23		Pfam_domain:PF10373,Superfamily_domains:SSF48452																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	46	183537204	183537204	C	G	1	0	0	0	0	0	1	0	0	15092	838	29	4		4	SMG7	1	183537204	Nonsense_Mutation	SNP	C	C3N-00294_TP	402452	183537204	65419218	102	13604											
RNF2	0	.	GRCh38	chr1	185091624	185091624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtggtttcacctcgaagtCtacacagtgaattaatgtgc	10	14	9	8	1	2	1	1	1	1	0	3	2	2	1	1	1	2	1	1	1	4	4			C3N-00294_TP	C3N-00294_NB	C	C																c.133C>G	p.Leu45Val	p.L45V	ENST00000367510	3/7	175	152	23	110	110	0	strelka-varscan-mutect	RNF2,missense_variant,p.Leu45Val,ENST00000367510,NM_007212.3;RNF2,missense_variant,p.Leu45Val,ENST00000367509,;RNF2,missense_variant,p.Leu45Val,ENST00000453650,;RNF2,non_coding_transcript_exon_variant,,ENST00000498201,;	G	ENST00000367510	Transcript	missense_variant	421/3606	133/1011	45/336	L/V	Cta/Gta	COSM424789	1		1	RNF2	HGNC	HGNC:10061	protein_coding	YES	CCDS1365.1	ENSP00000356480	Q99496		UPI000007131D	NM_007212.3	deleterious(0)		3/7		Gene3D:3.30.40.10,hmmpanther:PTHR10825,hmmpanther:PTHR10825:SF41,Superfamily_domains:SSF57850											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	46	185091624	185091624	C	G	1	0	0	0	0	1	0	0	0	13650	912	32	4		4	RNF2	1	185091624	Missense_Mutation	SNP	C	C3N-00294_TP	1554420	185091624	63864798	103	13605											
HMCN1	0	.	GRCh38	chr1	185922430	185922430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactggcctcagtactattGatttccgagctggcttttct	6	17	8	10	1	2	1	1	1	1	0	3	2	3	1	2	2	3	3	2	2	3	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.952G>A	p.Asp318Asn	p.D318N	ENST00000271588	7/107	522	458	64	429	429	0	strelka-varscan-mutect	HMCN1,missense_variant,p.Asp318Asn,ENST00000271588,NM_031935.2;	A	ENST00000271588	Transcript	missense_variant	1181/18208	952/16908	318/5635	D/N	Gat/Aat		1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2	tolerated(0.1)		7/107		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF678																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	185922430	185922430	G	A	1	0	0	0	0	1	0	0	0	7111	1290	45	3		3	HMCN1	1	185922430	Missense_Mutation	SNP	G	C3N-00294_TP	830806	185922430	63033992	104	13606											
HMCN1	0	.	GRCh38	chr1	185977925	185977925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacatgccaattttctcaaGacctttttcagttagttcca	11	15	4	11	0	2	1	2	0	1	1	4	1	3	1	3	0	2	2	3	0	4	6			C3N-00294_TP	C3N-00294_NB	G	G																c.2510G>A	p.Arg837Lys	p.R837K	ENST00000271588	16/107	217	187	30	246	246	0	strelka-varscan-mutect	HMCN1,missense_variant,p.Arg837Lys,ENST00000271588,NM_031935.2;HMCN1,non_coding_transcript_exon_variant,,ENST00000485744,;HMCN1,non_coding_transcript_exon_variant,,ENST00000493413,;	A	ENST00000271588	Transcript	missense_variant	2739/18208	2510/16908	837/5635	R/K	aGa/aAa	COSM2122396	1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2	tolerated(0.14)		16/107		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF678,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	46	185977925	185977925	G	A	1	0	0	0	0	1	0	0	0	7111	942	33	3		3	HMCN1	1	185977925	Missense_Mutation	SNP	G	C3N-00294_TP	55495	185977925	62978497	105	13607											
C1orf27	0	.	GRCh38	chr1	186398987	186398987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatattgaacacagttgctGatcgttgtgaaatgctattt	12	16	8	5	1	0	3	0	3	0	0	1	3	0	3	0	0	3	4	0	0	5	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.943G>A	p.Asp315Asn	p.D315N	ENST00000287859	11/14	122	110	12	154	154	0	strelka-mutect	C1orf27,missense_variant,p.Asp315Asn,ENST00000287859,NM_017847.5;C1orf27,missense_variant,p.Asp292Asn,ENST00000367470,NM_001164245.1;C1orf27,missense_variant,p.Asp283Asn,ENST00000419367,NM_001164246.1;OCLM,upstream_gene_variant,,ENST00000574641,NM_022375.3;AL596220.1,upstream_gene_variant,,ENST00000623025,;C1orf27,non_coding_transcript_exon_variant,,ENST00000478571,;	A	ENST00000287859	Transcript	missense_variant	1068/3792	943/1365	315/454	D/N	Gat/Aat		1		1	C1orf27	HGNC	HGNC:24299	protein_coding	YES	CCDS53448.1	ENSP00000287859	Q5SWX8		UPI00003744FF	NM_017847.5	tolerated(0.1)		11/14		Pfam_domain:PF14778,hmmpanther:PTHR33966,hmmpanther:PTHR33966:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	186398987	186398987	G	A	1	0	0	0	0	1	0	0	0	1987	1290	45	3		3	C1orf27	1	186398987	Missense_Mutation	SNP	G	C3N-00294_TP	421062	186398987	62557435	106	13608											
PTPRC	0	.	GRCh38	chr1	198709743	198709743	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaccttgaacccgaacatGagtataagtgtgactcagaa	17	8	8	8	1	1	4	1	3	0	1	1	5	1	4	2	0	3	1	2	0	7	3	rs781133917		C3N-00294_TP	C3N-00294_NB	G	G																c.1090G>C	p.Glu364Gln	p.E364Q	ENST00000442510	11/33	96	82	14	128	128	0	strelka-varscan-mutect	PTPRC,missense_variant,p.Glu364Gln,ENST00000442510,NM_002838.4;PTPRC,missense_variant,p.Glu203Gln,ENST00000348564,NM_080921.3;PTPRC,missense_variant,p.Glu298Gln,ENST00000367367,;PTPRC,missense_variant,p.Glu250Gln,ENST00000530727,;PTPRC,downstream_gene_variant,,ENST00000367379,;PTPRC,missense_variant,p.Glu316Gln,ENST00000529828,;PTPRC,upstream_gene_variant,,ENST00000491302,;	C	ENST00000442510	Transcript	missense_variant	1231/5164	1090/3921	364/1306	E/Q	Gag/Cag	rs781133917,CD012009	1		1	PTPRC	HGNC	HGNC:9666	protein_coding	YES	CCDS1397.2	ENSP00000411355		A0A0A0MT22	UPI000046FDB4	NM_002838.4	tolerated(0.38)		11/33		PIRSF_domain:PIRSF002004,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF284																	MODERATE	1	SNV	1		0,1	1										PASS		rs781133917	.												C	3	2	46	198709743	198709743	G	C	1	0	0	0	0	1	0	0	0	12951	1291	45	4		4	PTPRC	1	198709743	Missense_Mutation	SNP	G	C3N-00294_TP	12310756	198709743	50246679	107	13609											
PTPRC	0	.	GRCh38	chr1	198712956	198712956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttattcttttaacaggtcCaggagagcctcagattattt	10	16	7	8	0	3	2	1	0	2	2	4	3	4	2	2	2	2	0	2	2	3	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1175C>T	p.Pro392Leu	p.P392L	ENST00000442510	12/33	198	93	105	262	262	0	strelka-varscan-mutect	PTPRC,missense_variant,p.Pro392Leu,ENST00000442510,NM_002838.4;PTPRC,missense_variant,p.Pro231Leu,ENST00000348564,NM_080921.3;PTPRC,missense_variant,p.Pro326Leu,ENST00000367367,;PTPRC,missense_variant,p.Pro278Leu,ENST00000530727,;PTPRC,downstream_gene_variant,,ENST00000367379,;PTPRC,missense_variant,p.Pro344Leu,ENST00000529828,;PTPRC,non_coding_transcript_exon_variant,,ENST00000491302,;	T	ENST00000442510	Transcript	missense_variant	1316/5164	1175/3921	392/1306	P/L	cCa/cTa		1		1	PTPRC	HGNC	HGNC:9666	protein_coding	YES	CCDS1397.2	ENSP00000411355		A0A0A0MT22	UPI000046FDB4	NM_002838.4	deleterious(0)		12/33		Gene3D:2.60.40.10,PIRSF_domain:PIRSF002004,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF284,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	198712956	198712956	C	T	1	0	0	0	0	1	0	0	0	12951	608	21	3		3	PTPRC	1	198712956	Missense_Mutation	SNP	C	C3N-00294_TP	3213	198712956	50243466	108	13610											
CAMSAP2	0	.	GRCh38	chr1	200739857	200739857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagaccccagggagatGagaaagacgttcattgttcc	11	8	12	10	1	1	4	1	1	0	4	2	6	2	4	3	1	1	4	3	1	1	3			C3N-00294_TP	C3N-00294_NB	G	G																c.30G>T	p.Met10Ile	p.M10I	ENST00000236925	1/18	201	185	16	142	142	0	strelka-mutect	CAMSAP2,missense_variant,p.Met10Ile,ENST00000358823,NM_203459.2;CAMSAP2,missense_variant,p.Met10Ile,ENST00000236925,NM_001297707.1;CAMSAP2,missense_variant,p.Met10Ile,ENST00000413307,NM_001297708.1;	T	ENST00000236925	Transcript	missense_variant	79/7161	30/4470	10/1489	M/I	atG/atT	COSM3789305,COSM3789306	1		1	CAMSAP2	HGNC	HGNC:29188	protein_coding	YES	CCDS72998.1	ENSP00000236925	Q08AD1		UPI0000160246	NM_001297707.1	tolerated(0.29)		1/18		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF1											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	46	200739857	200739857	G	T	1	0	0	0	0	1	0	0	0	2304	1290	45	2		2	CAMSAP2	1	200739857	Missense_Mutation	SNP	G	C3N-00294_TP	2026901	200739857	48216565	109	13611											
CAMSAP2	0	.	GRCh38	chr1	200850105	200850105	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctccaaaaaatgttaatctGattgaagtttccctctcaga	13	13	6	9	0	2	3	1	2	2	1	5	3	4	3	2	0	0	3	2	0	5	3	rs748971172		C3N-00294_TP	C3N-00294_NB	G	G																c.3369G>C	p.=	p.L1123L	ENST00000236925	12/18	85	76	9	76	76	0	strelka-varscan-mutect	CAMSAP2,synonymous_variant,p.=,ENST00000358823,NM_203459.2;CAMSAP2,synonymous_variant,p.=,ENST00000236925,NM_001297707.1;CAMSAP2,synonymous_variant,p.=,ENST00000413307,NM_001297708.1;CAMSAP2,intron_variant,,ENST00000447701,;	C	ENST00000236925	Transcript	synonymous_variant	3418/7161	3369/4470	1123/1489	L	ctG/ctC	rs748971172	1		1	CAMSAP2	HGNC	HGNC:29188	protein_coding	YES	CCDS72998.1	ENSP00000236925	Q08AD1		UPI0000160246	NM_001297707.1			12/18		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF1																	LOW	1	SNV	1			1										PASS		rs748971172	.												C	2	2	46	200850105	200850105	G	C	1	0	0	0	0	0	0	0	1	2304	1277	45	4		4	CAMSAP2	1	200850105	Silent	SNP	G	C3N-00294_TP	110248	200850105	48106317	110	13612											
CAMSAP2	0	.	GRCh38	chr1	200850148	200850148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaaccccctgaaaaggctGatgtacctgttgaaaaatat	15	10	8	8	0	0	4	0	4	0	0	0	4	0	4	3	1	2	3	3	1	7	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3412G>C	p.Asp1138His	p.D1138H	ENST00000236925	12/18	55	51	4	58	58	0	strelka-varscan-mutect	CAMSAP2,missense_variant,p.Asp1127His,ENST00000358823,NM_203459.2;CAMSAP2,missense_variant,p.Asp1138His,ENST00000236925,NM_001297707.1;CAMSAP2,missense_variant,p.Asp1111His,ENST00000413307,NM_001297708.1;CAMSAP2,intron_variant,,ENST00000447701,;	C	ENST00000236925	Transcript	missense_variant	3461/7161	3412/4470	1138/1489	D/H	Gat/Cat		1		1	CAMSAP2	HGNC	HGNC:29188	protein_coding	YES	CCDS72998.1	ENSP00000236925	Q08AD1		UPI0000160246	NM_001297707.1	deleterious(0.01)		12/18		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	200850148	200850148	G	C	1	0	0	0	0	1	0	0	0	2304	1290	45	4		4	CAMSAP2	1	200850148	Missense_Mutation	SNP	G	C3N-00294_TP	43	200850148	48106274	111	13613											
C1orf106	0	.	GRCh38	chr1	200901084	200901084	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggaggagaagaagctgcagGagctccagcgctgcctggtc	10	5	16	10	1	0	2	0	0	0	2	2	5	1	4	2	4	5	4	2	4	2	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.445G>C	p.Glu149Gln	p.E149Q	ENST00000413687	5/10	181	162	19	136	136	0	strelka-varscan-mutect	C1orf106,missense_variant,p.Glu234Gln,ENST00000367342,NM_018265.3;C1orf106,missense_variant,p.Glu149Gln,ENST00000413687,NM_001142569.2;C1orf106,downstream_gene_variant,,ENST00000451872,;C1orf106,downstream_gene_variant,,ENST00000532631,;C1orf106,upstream_gene_variant,,ENST00000531649,;	C	ENST00000413687	Transcript	missense_variant	806/2197	445/1737	149/578	E/Q	Gag/Cag		1		1	C1orf106	HGNC	HGNC:25599	protein_coding	YES	CCDS44292.1	ENSP00000392105	Q3KP66		UPI0000204714	NM_001142569.2	tolerated(0.17)		5/10		hmmpanther:PTHR16093,hmmpanther:PTHR16093:SF4																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	46	200901084	200901084	G	C	1	0	0	0	0	1	0	0	0	1956	1175	41	4		4	C1orf106	1	200901084	Missense_Mutation	SNP	G	C3N-00294_TP	50936	200901084	48055338	112	13614											
IGFN1	0	.	GRCh38	chr1	201212275	201212275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagactctttcagatgagcGaggctccaccaaagatcttg	12	9	9	11	1	3	4	1	1	2	3	4	5	4	4	2	1	1	1	2	1	1	2	rs143334493		C3N-00294_TP	C3N-00294_NB	G	G																c.7382G>A	p.Arg2461Gln	p.R2461Q	ENST00000335211	12/24	166	139	27	135	135	0	strelka-varscan-mutect	IGFN1,missense_variant,p.Arg2461Gln,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,upstream_gene_variant,,ENST00000473483,;	A	ENST00000335211	Transcript	missense_variant	7512/11810	7382/11127	2461/3708	R/Q	cGa/cAa	rs143334493	1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1	tolerated(1)		12/24																			MODERATE	1	SNV	5			1										PASS		rs143334493	.												A	3	1	46	201212275	201212275	G	A	1	0	0	0	0	1	0	0	0	7497	1058	37	1		1	IGFN1	1	201212275	Missense_Mutation	SNP	G	C3N-00294_TP	311191	201212275	47744147	113	13615											
IGFN1	0	.	GRCh38	chr1	201212398	201212398	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttctgggactccagggtCttctagagacagaggggctc	8	9	14	10	0	3	2	0	0	3	2	5	4	4	3	1	4	0	2	1	4	1	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.7505C>G	p.Ser2502Cys	p.S2502C	ENST00000335211	12/24	295	253	42	212	212	0	strelka-varscan-mutect	IGFN1,missense_variant,p.Ser2502Cys,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,upstream_gene_variant,,ENST00000473483,;	G	ENST00000335211	Transcript	missense_variant	7635/11810	7505/11127	2502/3708	S/C	tCt/tGt		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1	deleterious(0.02)		12/24		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF630																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	46	201212398	201212398	C	G	1	0	0	0	0	1	0	0	0	7497	913	32	4		4	IGFN1	1	201212398	Missense_Mutation	SNP	C	C3N-00294_TP	123	201212398	47744024	114	13616											
NAV1	0	.	GRCh38	chr1	201781197	201781197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatccaagggtggagaactGaaaaagcccatcagcctggg	13	6	12	10	0	2	2	2	1	0	1	3	3	3	2	3	3	3	0	3	3	4	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1551G>A	p.=	p.L517L	ENST00000367296	5/30	361	315	46	300	300	0	strelka-varscan-mutect	NAV1,synonymous_variant,p.=,ENST00000367296,NM_020443.4;NAV1,synonymous_variant,p.=,ENST00000367295,NM_001167738.1;NAV1,synonymous_variant,p.=,ENST00000367302,;NAV1,synonymous_variant,p.=,ENST00000430015,;IPO9-AS1,intron_variant,,ENST00000413035,;NAV1,non_coding_transcript_exon_variant,,ENST00000490213,;NAV1,upstream_gene_variant,,ENST00000469130,;	A	ENST00000367296	Transcript	synonymous_variant	1971/13091	1551/5634	517/1877	L	ctG/ctA		1		1	NAV1	HGNC	HGNC:15989	protein_coding	YES	CCDS1414.2	ENSP00000356265	Q8NEY1		UPI00004562D4	NM_020443.4			5/30		hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF3																	LOW		SNV	5			1										PASS		.	.												A	2	1	46	201781197	201781197	G	A	1	0	0	0	0	0	0	0	1	10192	1277	45	3		3	NAV1	1	201781197	Silent	SNP	G	C3N-00294_TP	568799	201781197	47175225	115	13617											
IPO9	0	.	GRCh38	chr1	201855164	201855164	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attacacagaagaagtagaaGatcctgtggattctgatggt	14	11	11	5	0	1	5	0	1	1	4	2	6	2	6	1	2	1	1	1	2	5	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.952G>C	p.Asp318His	p.D318H	ENST00000361565	9/24	75	70	5	92	92	0	strelka-varscan-mutect	IPO9,missense_variant,p.Asp318His,ENST00000361565,NM_018085.4;IPO9,downstream_gene_variant,,ENST00000464348,;IPO9,downstream_gene_variant,,ENST00000479374,;	C	ENST00000361565	Transcript	missense_variant	1021/11435	952/3126	318/1041	D/H	Gat/Cat		1		1	IPO9	HGNC	HGNC:19425	protein_coding	YES	CCDS1415.1	ENSP00000354742	Q96P70		UPI000007304B	NM_018085.4	deleterious(0.03)		9/24		hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF9,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	201855164	201855164	G	C	1	0	0	0	0	1	0	0	0	7702	942	33	4		4	IPO9	1	201855164	Missense_Mutation	SNP	G	C3N-00294_TP	73967	201855164	47101258	116	13618											
LMOD1	0	.	GRCh38	chr1	201899466	201899466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttggagagggctttggaGatggttgaggtgaaggtttt	7	15	17	2	0	1	4	0	2	1	2	1	6	1	4	0	6	0	3	0	6	1	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1547C>T	p.Ser516Phe	p.S516F	ENST00000367288	2/3	358	311	47	281	279	2	strelka-varscan-mutect	LMOD1,missense_variant,p.Ser516Phe,ENST00000367288,NM_012134.2;LMOD1,intron_variant,,ENST00000616739,;RP11-307B6.3,intron_variant,,ENST00000458139,;RP11-307B6.3,intron_variant,,ENST00000414927,;	A	ENST00000367288	Transcript	missense_variant	1794/3970	1547/1803	516/600	S/F	tCt/tTt		1		-1	LMOD1	HGNC	HGNC:6647	protein_coding	YES	CCDS53457.1	ENSP00000356257	P29536		UPI00003665F4	NM_012134.2			2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR10901,hmmpanther:PTHR10901:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	201899466	201899466	G	A	1	0	0	0	0	1	0	0	0	8783	942	33	3		3	LMOD1	1	201899466	Missense_Mutation	SNP	G	C3N-00294_TP	44302	201899466	47056956	117	13619											
GPR37L1	0	.	GRCh38	chr1	202123422	202123422	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaacctgtcggtcatgtgCatcgtgtggcacagctacta	8	10	12	11	2	1	0	1	0	0	0	3	0	1	0	1	3	4	4	1	3	3	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.459C>T	p.=	p.C153C	ENST00000367282	1/2	289	243	46	233	233	0	strelka-varscan-mutect	GPR37L1,synonymous_variant,p.=,ENST00000367282,NM_004767.3;	T	ENST00000367282	Transcript	synonymous_variant	565/6588	459/1446	153/481	C	tgC/tgT		1		1	GPR37L1	HGNC	HGNC:14923	protein_coding	YES	CCDS1420.1	ENSP00000356251	O60883		UPI000013E92C	NM_004767.3			1/2		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF33,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	202123422	202123422	C	T	1	0	0	0	0	0	0	0	1	6577	718	25	3		3	GPR37L1	1	202123422	Silent	SNP	C	C3N-00294_TP	223956	202123422	46833000	118	13620											
CD46	0	.	GRCh38	chr1	207761336	207761336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagtatcttgatgcagtaaCttatagttgtgatcctgcac	10	15	9	7	0	1	3	0	3	1	0	2	3	2	3	1	0	3	5	1	0	4	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.563C>T	p.Thr188Ile	p.T188I	ENST00000322875	5/13	308	260	48	241	241	0	strelka-varscan-mutect	CD46,missense_variant,p.Thr188Ile,ENST00000358170,NM_002389.4;CD46,missense_variant,p.Thr188Ile,ENST00000367042,NM_172351.2;CD46,missense_variant,p.Thr188Ile,ENST00000367041,NM_172352.2;CD46,missense_variant,p.Thr188Ile,ENST00000322875,NM_172359.2;CD46,missense_variant,p.Thr188Ile,ENST00000354848,NM_153826.3;CD46,missense_variant,p.Thr188Ile,ENST00000357714,NM_172353.2;CD46,missense_variant,p.Thr188Ile,ENST00000322918,NM_172350.2;CD46,missense_variant,p.Thr125Ile,ENST00000367047,;CD46,missense_variant,p.Thr188Ile,ENST00000360212,NM_172361.2;CD46,missense_variant,p.Thr188Ile,ENST00000480003,;CD46,non_coding_transcript_exon_variant,,ENST00000469535,;CD46,downstream_gene_variant,,ENST00000493796,;CD46,non_coding_transcript_exon_variant,,ENST00000464082,;CDCA4P4,upstream_gene_variant,,ENST00000435216,;	T	ENST00000322875	Transcript	missense_variant	719/3278	563/1200	188/399	T/I	aCt/aTt		1		1	CD46	HGNC	HGNC:6953	protein_coding	YES	CCDS1482.1	ENSP00000313875	P15529		UPI000015FF6E	NM_172359.2	tolerated(0.22)		5/13		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF384,hmmpanther:PTHR19325,PIRSF_domain:PIRSF037971,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	207761336	207761336	C	T	1	0	0	0	0	1	0	0	0	2722	565	20	3		3	CD46	1	207761336	Missense_Mutation	SNP	C	C3N-00294_TP	5637914	207761336	41195086	119	13621											
LAMB3	0	.	GRCh38	chr1	209627542	209627542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactctcctcgtcacacggCatgtccctccgggaccccag	6	7	8	20	3	2	0	1	0	1	0	6	1	4	1	6	2	0	1	6	2	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1326G>T	p.Met442Ile	p.M442I	ENST00000391911	11/22	359	139	220	292	292	0	strelka-varscan-mutect	LAMB3,missense_variant,p.Met442Ile,ENST00000391911,NM_001017402.1;LAMB3,missense_variant,p.Met442Ile,ENST00000356082,NM_000228.2;LAMB3,missense_variant,p.Met442Ile,ENST00000367030,NM_001127641.1;LAMB3,upstream_gene_variant,,ENST00000583107,;	A	ENST00000391911	Transcript	missense_variant	1716/4305	1326/3519	442/1172	M/I	atG/atT		1		-1	LAMB3	HGNC	HGNC:6490	protein_coding	YES	CCDS1487.1	ENSP00000375778	Q13751	A0A0S2Z3R6	UPI000012E76F	NM_001017402.1	tolerated(0.16)		11/22		PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF268,hmmpanther:PTHR10574,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00180,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	209627542	209627542	C	A	1	0	0	0	0	1	0	0	0	8516	710	25	2		2	LAMB3	1	209627542	Missense_Mutation	SNP	C	C3N-00294_TP	1866206	209627542	39328880	120	13622											
TATDN3	0	.	GRCh38	chr1	212802701	212802701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttactttttttctcccagGatttggatgtagctttgccc	5	20	7	9	0	1	0	0	0	1	0	2	2	1	2	2	2	3	2	2	2	2	8	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.259G>A	p.Asp87Asn	p.D87N	ENST00000532324	5/10	128	111	17	136	136	0	strelka-varscan-mutect	TATDN3,missense_variant,p.Asp87Asn,ENST00000366974,NM_001042552.2;TATDN3,missense_variant,p.Asp87Asn,ENST00000366973,NM_001042553.2;TATDN3,missense_variant,p.Asp87Asn,ENST00000532324,NM_001146171.1;TATDN3,missense_variant,p.Asp87Asn,ENST00000531963,NM_001146169.1;TATDN3,missense_variant,p.Asp87Asn,ENST00000526997,;TATDN3,missense_variant,p.Asp86Asn,ENST00000530399,;TATDN3,missense_variant,p.Asp87Asn,ENST00000488246,;TATDN3,splice_region_variant,p.=,ENST00000530441,;TATDN3,intron_variant,,ENST00000526641,NM_001146170.1;TATDN3,upstream_gene_variant,,ENST00000527693,;TATDN3,splice_region_variant,,ENST00000525569,;TATDN3,splice_region_variant,,ENST00000530392,;TATDN3,splice_region_variant,,ENST00000497768,;TATDN3,splice_region_variant,p.=,ENST00000525574,;TATDN3,intron_variant,,ENST00000533650,;	A	ENST00000532324	Transcript	missense_variant,splice_region_variant	353/1381	259/846	87/281	D/N	Gat/Aat		1		1	TATDN3	HGNC	HGNC:27010	protein_coding	YES	CCDS53475.1	ENSP00000431376	Q17R31		UPI0000205E43	NM_001146171.1	deleterious(0)		5/10		hmmpanther:PTHR10060,hmmpanther:PTHR10060:SF25,Gene3D:3.20.20.140,Pfam_domain:PF01026,PIRSF_domain:PIRSF005902,Superfamily_domains:SSF51556																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	46	212802701	212802701	G	A	1	0	0	0	0	1	0	0	0	15992	1188	41	3		3	TATDN3	1	212802701	Missense_Mutation	SNP	G	C3N-00294_TP	3175159	212802701	36153721	121	13623											
ANGEL2	0	.	GRCh38	chr1	212995049	212995049	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatcaaagagagtcagagctCaagtctgaactttgccaata	15	9	9	8	0	4	3	3	1	1	2	4	5	4	3	1	0	3	1	1	0	5	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1627G>C	p.Glu543Gln	p.E543Q	ENST00000366962	9/9	82	72	10	91	91	0	strelka-varscan-mutect	ANGEL2,missense_variant,p.Glu543Gln,ENST00000366962,NM_144567.4;ANGEL2,missense_variant,p.Glu374Gln,ENST00000360506,NM_001300758.1,NM_001300755.1,NM_001300753.1,NM_001300757.1;ANGEL2,missense_variant,p.Glu374Gln,ENST00000535388,;VASH2,downstream_gene_variant,,ENST00000366968,NM_001136474.2;VASH2,downstream_gene_variant,,ENST00000366965,NM_024749.4;ANGEL2,non_coding_transcript_exon_variant,,ENST00000473303,;VASH2,downstream_gene_variant,,ENST00000519906,;ANGEL2,downstream_gene_variant,,ENST00000498650,;	G	ENST00000366962	Transcript	missense_variant	1782/4649	1627/1635	543/544	E/Q	Gag/Cag		1		-1	ANGEL2	HGNC	HGNC:30534	protein_coding	YES	CCDS1512.1	ENSP00000355929	Q5VTE6		UPI00001D3EF4	NM_144567.4	tolerated(0.22)		9/9		hmmpanther:PTHR12121:SF27,hmmpanther:PTHR12121,Superfamily_domains:SSF56219																	MODERATE	1	SNV	1			1										PASS		rs1462514320	.												G	3	3	46	212995049	212995049	C	G	1	0	0	0	0	1	0	0	0	707	835	29	4		4	ANGEL2	1	212995049	Missense_Mutation	SNP	C	C3N-00294_TP	192348	212995049	35961373	122	13624											
PTPN14	0	.	GRCh38	chr1	214383842	214383842	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcgggcggtccctgctcccgGagcgtgttgcggcgagccat	3	8	16	14	6	0	0	0	0	0	0	3	2	2	1	3	4	4	2	3	4	0	1	rs761892420		C3N-00294_TP	C3N-00294_NB	G	G																c.2013C>G	p.=	p.L671L	ENST00000366956	13/19	207	184	23	146	146	0	strelka-varscan-mutect	PTPN14,synonymous_variant,p.=,ENST00000366956,NM_005401.4;PTPN14,3_prime_UTR_variant,,ENST00000543945,;	C	ENST00000366956	Transcript	synonymous_variant	2208/12985	2013/3564	671/1187	L	ctC/ctG	rs761892420	1		-1	PTPN14	HGNC	HGNC:9647	protein_coding	YES	CCDS1514.1	ENSP00000355923	Q15678		UPI000013DCA6	NM_005401.4			13/19		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77,PIRSF_domain:PIRSF000934																	LOW	1	SNV	1			1										PASS		rs761892420	.												C	2	2	46	214383842	214383842	G	C	1	0	0	0	0	0	0	0	1	12936	1161	41	4		4	PTPN14	1	214383842	Silent	SNP	G	C3N-00294_TP	1388793	214383842	34572580	123	13625											
USH2A	0	.	GRCh38	chr1	215625858	215625858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggcgttcatcaggtcctCttcatccacatactgaaaaa	12	11	7	11	1	4	1	3	1	1	0	6	2	6	1	2	2	1	1	2	2	3	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.15532G>A	p.Glu5178Lys	p.E5178K	ENST00000307340	72/72	509	456	53	390	390	0	strelka-varscan-mutect	USH2A,missense_variant,p.Glu5178Lys,ENST00000307340,NM_206933.2;KCTD3,downstream_gene_variant,,ENST00000259154,NM_001319294.1,NM_016121.3;SNORD116,downstream_gene_variant,,ENST00000365628,;KCTD3,downstream_gene_variant,,ENST00000495537,;	T	ENST00000307340	Transcript	missense_variant	15919/18883	15532/15609	5178/5202	E/K	Gag/Aag		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0.01)		72/72																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	215625858	215625858	C	T	1	0	0	0	0	1	0	0	0	17570	922	32	3		3	USH2A	1	215625858	Missense_Mutation	SNP	C	C3N-00294_TP	1242016	215625858	33330564	124	13626											
USH2A	0	.	GRCh38	chr1	215845874	215845874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cactgttgatgctgtggactCcattgaagacagagataaag	13	10	11	7	0	0	4	0	2	0	2	1	6	1	5	1	1	1	2	1	1	3	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.9005G>A	p.Gly3002Glu	p.G3002E	ENST00000307340	45/72	576	501	75	413	413	0	strelka-varscan-mutect	USH2A,missense_variant,p.Gly3002Glu,ENST00000307340,NM_206933.2;	T	ENST00000307340	Transcript	missense_variant	9392/18883	9005/15609	3002/5202	G/E	gGa/gAa		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		45/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs1245969744	.												T	3	4	46	215845874	215845874	C	T	1	0	0	0	0	1	0	0	0	17570	855	30	3		3	USH2A	1	215845874	Missense_Mutation	SNP	C	C3N-00294_TP	220016	215845874	33110548	125	13627											
USH2A	0	.	GRCh38	chr1	215878803	215878803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttggatggtggttgccaaGaaatcacaacatatgattca	13	11	10	7	0	2	2	2	1	0	1	2	3	2	3	1	3	2	2	1	3	4	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.8519C>T	p.Ser2840Phe	p.S2840F	ENST00000307340	42/72	250	208	42	197	197	0	strelka-varscan-mutect	USH2A,missense_variant,p.Ser2840Phe,ENST00000307340,NM_206933.2;	A	ENST00000307340	Transcript	missense_variant	8906/18883	8519/15609	2840/5202	S/F	tCt/tTt		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		42/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	215878803	215878803	G	A	1	0	0	0	0	1	0	0	0	17570	942	33	3		3	USH2A	1	215878803	Missense_Mutation	SNP	G	C3N-00294_TP	32929	215878803	33077619	126	13628											
USH2A	0	.	GRCh38	chr1	216089109	216089109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actatattgtttgccatgatCattagttgtagttacttcca	10	18	6	7	0	1	1	1	1	0	0	2	1	2	1	2	0	2	4	2	0	5	9	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.4789G>A	p.Asp1597Asn	p.D1597N	ENST00000307340	23/72	161	141	20	178	178	0	strelka-varscan-mutect	USH2A,missense_variant,p.Asp1597Asn,ENST00000307340,NM_206933.2;RP11-22M7.2,downstream_gene_variant,,ENST00000446411,;RP11-22M7.2,downstream_gene_variant,,ENST00000430890,;RP11-22M7.2,downstream_gene_variant,,ENST00000442606,;RP11-22M7.2,downstream_gene_variant,,ENST00000445619,;USH2A,non_coding_transcript_exon_variant,,ENST00000481786,;USH2A,upstream_gene_variant,,ENST00000463147,;	T	ENST00000307340	Transcript	missense_variant	5176/18883	4789/15609	1597/5202	D/N	Gat/Aat		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		23/72		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	216089109	216089109	C	T	1	0	0	0	0	1	0	0	0	17570	826	29	3		3	USH2A	1	216089109	Missense_Mutation	SNP	C	C3N-00294_TP	210306	216089109	32867313	127	13629											
RAB3GAP2	0	.	GRCh38	chr1	220171978	220171978	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctccattgttctcagactGaatacaggctgtgcgcatct	8	12	10	11	1	2	2	1	1	2	1	4	2	3	2	1	2	2	4	1	2	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2488C>T	p.Gln830Ter	p.Q830*	ENST00000358951	23/35	249	224	25	196	196	0	strelka-varscan-mutect	RAB3GAP2,stop_gained,p.Gln830Ter,ENST00000358951,NM_012414.3;	A	ENST00000358951	Transcript	stop_gained	2605/7257	2488/4182	830/1393	Q/*	Cag/Tag		1		-1	RAB3GAP2	HGNC	HGNC:17168	protein_coding	YES	CCDS31028.1	ENSP00000351832	Q9H2M9		UPI0000072269	NM_012414.3			23/35		Pfam_domain:PF14656,hmmpanther:PTHR12472																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	46	220171978	220171978	G	A	1	0	0	0	0	0	1	0	0	13095	1299	45	3		3	RAB3GAP2	1	220171978	Nonsense_Mutation	SNP	G	C3N-00294_TP	4082869	220171978	28784444	128	13630											
MARK1	0	.	GRCh38	chr1	220652018	220652018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgagtagcatatcttCtgcaggctcttctgtggcct	5	15	11	10	0	5	1	0	1	5	0	5	1	5	1	1	2	2	4	1	2	2	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1604C>A	p.Ser535Tyr	p.S535Y	ENST00000611084	15/18	170	140	30	108	108	0	strelka-varscan-mutect	MARK1,missense_variant,p.Ser535Tyr,ENST00000611084,NM_001286124.1;MARK1,missense_variant,p.Ser535Tyr,ENST00000402574,NM_001286126.1;MARK1,missense_variant,p.Ser513Tyr,ENST00000366918,NM_001286128.1;MARK1,missense_variant,p.Ser535Tyr,ENST00000366917,NM_018650.4;	A	ENST00000611084	Transcript	missense_variant	2244/5321	1604/2391	535/796	S/Y	tCt/tAt		1		1	MARK1	HGNC	HGNC:6896	protein_coding	YES	CCDS73033.1	ENSP00000483424		A0A087X0I6	UPI0000E592B1	NM_001286124.1	tolerated(0.17)		15/18		Low_complexity_(Seg):seg,hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF21																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	220652018	220652018	C	A	1	0	0	0	0	1	0	0	0	9237	913	32	2		2	MARK1	1	220652018	Missense_Mutation	SNP	C	C3N-00294_TP	480040	220652018	28304404	129	13631											
NVL	0	.	GRCh38	chr1	224305089	224305089	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttcctgaagatcttctttCttccttttgcttcctttatt	5	22	3	11	0	3	2	0	1	3	1	6	2	6	2	3	0	1	1	3	0	2	10	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.693G>C	p.Lys231Asn	p.K231N	ENST00000281701	7/23	167	146	21	129	129	0	strelka-varscan-mutect	NVL,missense_variant,p.Lys231Asn,ENST00000281701,NM_002533.3;NVL,missense_variant,p.Lys15Asn,ENST00000482491,;NVL,missense_variant,p.Lys125Asn,ENST00000391875,NM_206840.2;NVL,missense_variant,p.Lys140Asn,ENST00000469075,NM_001243147.1;NVL,missense_variant,p.Lys34Asn,ENST00000469968,;NVL,missense_variant,p.Lys15Asn,ENST00000340871,NM_001243146.1;NVL,missense_variant,p.Lys127Asn,ENST00000436927,;NVL,missense_variant,p.Lys140Asn,ENST00000488718,;NVL,missense_variant,p.Lys136Asn,ENST00000492281,;NVL,downstream_gene_variant,,ENST00000461546,;RNU6-1008P,upstream_gene_variant,,ENST00000384160,;NVL,downstream_gene_variant,,ENST00000461466,;NVL,downstream_gene_variant,,ENST00000470903,;NVL,missense_variant,p.Lys231Asn,ENST00000467882,;NVL,3_prime_UTR_variant,,ENST00000470989,;NVL,downstream_gene_variant,,ENST00000498767,;	G	ENST00000281701	Transcript	missense_variant	953/3123	693/2571	231/856	K/N	aaG/aaC		1		-1	NVL	HGNC	HGNC:8070	protein_coding	YES	CCDS1541.1	ENSP00000281701	O15381		UPI0000073F3E	NM_002533.3	deleterious(0.04)		7/23		Low_complexity_(Seg):seg,hmmpanther:PTHR23077:SF55,hmmpanther:PTHR23077																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	224305089	224305089	C	G	1	0	0	0	0	1	0	0	0	10853	912	32	4		4	NVL	1	224305089	Missense_Mutation	SNP	C	C3N-00294_TP	3653071	224305089	24651333	130	13632											
DNAH14	0	.	GRCh38	chr1	225079384	225079384	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagatccatatttcagaaGagcaaattgccatattccaa	16	10	5	10	0	1	3	1	0	0	3	3	3	3	3	4	0	2	1	4	0	5	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2602G>T	p.Glu868Ter	p.E868*	ENST00000430092	18/84	129	108	21	157	157	0	strelka-varscan-mutect	DNAH14,stop_gained,p.Glu868Ter,ENST00000430092,NM_001373.1;DNAH14,stop_gained,p.Glu868Ter,ENST00000439375,;DNAH14,stop_gained,p.Glu802Ter,ENST00000445597,;	T	ENST00000430092	Transcript	stop_gained	2817/13763	2602/13548	868/4515	E/*	Gag/Tag		1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000414402	Q0VDD8		UPI000192C36D	NM_001373.1			18/84		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF254																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	46	225079384	225079384	G	T	1	0	0	0	0	0	1	0	0	4415	943	33	2		2	DNAH14	1	225079384	Nonsense_Mutation	SNP	G	C3N-00294_TP	774295	225079384	23877038	131	13633											
SDE2	0	.	GRCh38	chr1	225992931	225992931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgtagtctccttccactgaGatcccgacaagcttctcgat	8	11	8	14	3	2	1	0	1	2	1	6	4	4	1	3	0	1	2	3	0	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.310C>T	p.Leu104Phe	p.L104F	ENST00000272091	3/7	337	301	36	211	211	0	strelka-varscan-mutect	SDE2,missense_variant,p.Leu104Phe,ENST00000272091,NM_152608.3;	A	ENST00000272091	Transcript	missense_variant	329/3975	310/1356	104/451	L/F	Ctc/Ttc		1		-1	SDE2	HGNC	HGNC:26643	protein_coding	YES	CCDS41473.1	ENSP00000272091	Q6IQ49		UPI0000204007	NM_152608.3	deleterious(0)		3/7		hmmpanther:PTHR12786:SF1,hmmpanther:PTHR12786,Pfam_domain:PF13019																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	225992931	225992931	G	A	1	0	0	0	0	1	0	0	0	14231	942	33	3		3	SDE2	1	225992931	Missense_Mutation	SNP	G	C3N-00294_TP	913547	225992931	22963491	132	13634											
JMJD4	0	.	GRCh38	chr1	227734778	227734778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttggggttcgagttgtattCctggaccccacagtttgcaa	7	14	11	9	1	0	0	0	0	0	0	2	2	1	1	3	3	1	5	3	3	2	6	rs148842395		C3N-00294_TP	C3N-00294_NB	C	C																c.439G>A	p.Glu147Lys	p.E147K	ENST00000366758	2/6	236	204	32	174	174	0	strelka-varscan-mutect	JMJD4,missense_variant,p.Glu147Lys,ENST00000366758,NM_023007.2;JMJD4,missense_variant,p.Glu147Lys,ENST00000615711,;JMJD4,missense_variant,p.Glu147Lys,ENST00000438896,NM_001161465.1;JMJD4,missense_variant,p.Glu101Lys,ENST00000620518,;SNAP47,intron_variant,,ENST00000366760,;SNAP47,upstream_gene_variant,,ENST00000426344,;SNAP47,upstream_gene_variant,,ENST00000315781,NM_053052.3;SNAP47,upstream_gene_variant,,ENST00000366759,;SNAP47,upstream_gene_variant,,ENST00000617596,;SNAP47,upstream_gene_variant,,ENST00000418653,;SNAP47,intron_variant,,ENST00000475930,;SNAP47,intron_variant,,ENST00000491439,;SNAP47,downstream_gene_variant,,ENST00000480897,;SNAP47,downstream_gene_variant,,ENST00000480265,;SNAP47,upstream_gene_variant,,ENST00000470038,;JMJD4,non_coding_transcript_exon_variant,,ENST00000480590,;JMJD4,upstream_gene_variant,,ENST00000485807,;JMJD4,upstream_gene_variant,,ENST00000465251,;	T	ENST00000366758	Transcript	missense_variant	439/2595	439/1392	147/463	E/K	Gaa/Aaa	rs148842395	1		-1	JMJD4	HGNC	HGNC:25724	protein_coding	YES	CCDS1561.1	ENSP00000355720	Q9H9V9		UPI000013FE0C	NM_023007.2	tolerated(0.13)		2/6		hmmpanther:PTHR12480,hmmpanther:PTHR12480:SF6,Gene3D:1vrbA01,Superfamily_domains:SSF51197																	MODERATE	1	SNV	1			1										PASS		rs148842395	.												T	3	4	46	227734778	227734778	C	T	1	0	0	0	0	1	0	0	0	7865	864	30	3		3	JMJD4	1	227734778	Missense_Mutation	SNP	C	C3N-00294_TP	1741847	227734778	21221644	133	13635											
OBSCN	0	.	GRCh38	chr1	228250120	228250120	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagctccagctcgaaagttCgaatggaggctgtgggctgc	8	9	15	9	2	0	1	0	1	0	0	3	4	1	2	1	3	3	5	1	3	2	1			C3N-00294_TP	C3N-00294_NB	C	C																c.4465C>T	p.Arg1489Ter	p.R1489*	ENST00000570156	15/116	502	469	33	404	403	1	strelka-varscan-mutect	OBSCN,stop_gained,p.Arg1489Ter,ENST00000570156,NM_001271223.2;OBSCN,stop_gained,p.Arg1489Ter,ENST00000366707,;OBSCN,stop_gained,p.Arg1397Ter,ENST00000422127,NM_001098623.2;OBSCN,stop_gained,p.Arg1397Ter,ENST00000636875,;OBSCN,stop_gained,p.Arg1397Ter,ENST00000284548,NM_052843.3;	T	ENST00000570156	Transcript	stop_gained	4539/26925	4465/26772	1489/8923	R/*	Cga/Tga	COSM1218205,COSM1218206,COSM1218207,COSM1218208	1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2			15/116		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1,1,1						HIGH	1	SNV	5		1,1,1,1	1										PASS		rs1158912574	.												T	4	4	46	228250120	228250120	C	T	1	0	0	0	0	0	1	0	0	10889	876	31	1		1	OBSCN	1	228250120	Nonsense_Mutation	SNP	C	C3N-00294_TP	515342	228250120	20706302	134	13636											
HIST3H2BB	0	.	GRCh38	chr1	228458358	228458358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcgagcgcatcgccagcGaggcctcccgcctggcacac	6	6	11	18	5	1	0	0	0	1	0	4	2	2	0	4	2	2	2	4	2	0	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.229G>A	p.Glu77Lys	p.E77K	ENST00000620438	1/1	322	273	49	249	249	0	strelka-varscan-mutect	HIST3H2BB,missense_variant,p.Glu77Lys,ENST00000620438,NM_175055.2;HIST3H2A,upstream_gene_variant,,ENST00000366695,NM_033445.2;MIR4666A,upstream_gene_variant,,ENST00000580160,;	A	ENST00000620438	Transcript	missense_variant	252/2364	229/381	77/126	E/K	Gag/Aag		1		1	HIST3H2BB	HGNC	HGNC:20514	protein_coding	YES	CCDS1574.1	ENSP00000479284	Q8N257		UPI00000214BE	NM_175055.2	deleterious_low_confidence(0.04)		1/1		hmmpanther:PTHR23428,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	46	228458358	228458358	G	A	1	0	0	0	0	1	0	0	0	7072	1059	37	1		1	HIST3H2BB	1	228458358	Missense_Mutation	SNP	G	C3N-00294_TP	208238	228458358	20498064	135	13637											
GALNT2	0	.	GRCh38	chr1	230243411	230243411	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactggctggagcccctccTggaaagggtggcggaggtga	7	6	18	10	1	0	1	0	1	0	0	1	4	1	4	3	7	1	2	3	7	1	0	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.713T>G	p.Leu238Arg	p.L238R	ENST00000366672	7/16	136	103	33	106	106	0	strelka-varscan-mutect	GALNT2,missense_variant,p.Leu238Arg,ENST00000366672,NM_001291866.1,NM_004481.4;GALNT2,non_coding_transcript_exon_variant,,ENST00000494106,;	G	ENST00000366672	Transcript	missense_variant	785/4454	713/1716	238/571	L/R	cTg/cGg		1		1	GALNT2	HGNC	HGNC:4124	protein_coding	YES	CCDS1582.1	ENSP00000355632	Q10471		UPI0000074053	NM_001291866.1,NM_004481.4	deleterious(0)		7/16		Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF49,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	230243411	230243411	T	G	1	0	0	0	0	1	0	0	0	6084	1580	55	5		5	GALNT2	1	230243411	Missense_Mutation	SNP	T	C3N-00294_TP	1785053	230243411	18713011	136	13638											
DISC1	0	.	GRCh38	chr1	231818383	231818383	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagattagatcattaacatCagagagagaagggctggagg	15	7	15	4	0	2	4	2	0	0	4	2	8	2	5	0	4	1	1	0	4	3	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1847C>G	p.Ser616Ter	p.S616*	ENST00000366633	9/10	330	274	56	253	253	0	strelka-varscan-mutect	DISC1,stop_gained,p.Ser616Ter,ENST00000439617,NM_001164537.1,NM_018662.2;DISC1,stop_gained,p.Ser616Ter,ENST00000366637,NM_001012957.1;DISC1,stop_gained,p.Ser494Ter,ENST00000620189,NM_001164540.1;DISC1,stop_gained,p.Ser616Ter,ENST00000602281,NM_001164542.1,NM_001164544.1;DISC1,stop_gained,p.Ser616Ter,ENST00000366633,NM_001164539.1;DISC1,stop_gained,p.Ser616Ter,ENST00000535983,NM_001164541.1,NM_001164538.1;DISC1,stop_gained,p.Ser616Ter,ENST00000366636,NM_001012959.1;DISC1,3_prime_UTR_variant,,ENST00000622252,;DISC1,3_prime_UTR_variant,,ENST00000539444,NM_001164545.1,NM_001164548.1;DISC1,3_prime_UTR_variant,,ENST00000537876,;DISC1,3_prime_UTR_variant,,ENST00000602873,NM_001164556.1;DISC1,intron_variant,,ENST00000628350,NM_001164546.1,NM_001164549.1,NM_001164547.1;DISC2,downstream_gene_variant,,ENST00000612827,;DISC1,upstream_gene_variant,,ENST00000427560,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602567,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;DISC1,3_prime_UTR_variant,,ENST00000535944,;DISC1,3_prime_UTR_variant,,ENST00000422590,;DISC1,3_prime_UTR_variant,,ENST00000295051,;DISC1,3_prime_UTR_variant,,ENST00000602822,;DISC1,3_prime_UTR_variant,,ENST00000602713,;DISC1,3_prime_UTR_variant,,ENST00000602700,;DISC1,3_prime_UTR_variant,,ENST00000366632,;	G	ENST00000366633	Transcript	stop_gained	1900/2676	1847/2268	616/755	S/*	tCa/tGa		1		1	DISC1	HGNC	HGNC:2888	protein_coding	YES	CCDS53482.1	ENSP00000355593	Q9NRI5		UPI0001A61692	NM_001164539.1			9/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14332,hmmpanther:PTHR14332:SF4,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		rs1230400140	.												G	4	3	46	231818383	231818383	C	G	1	0	0	0	0	0	1	0	0	4344	838	29	4		4	DISC1	1	231818383	Nonsense_Mutation	SNP	C	C3N-00294_TP	1574972	231818383	17138039	137	13639											
SIPA1L2	0	.	GRCh38	chr1	232515096	232515096	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcctttttaggaggccattCagacacccttgctctcacac	8	12	7	14	0	2	1	2	0	1	1	4	2	3	2	3	2	1	1	3	2	1	5			C3N-00294_TP	C3N-00294_NB	C	C																c.244G>C	p.Glu82Gln	p.E82Q	ENST00000366630	2/22	186	158	28	136	136	0	strelka-varscan-mutect	SIPA1L2,missense_variant,p.Glu82Gln,ENST00000366630,;SIPA1L2,missense_variant,p.Glu82Gln,ENST00000262861,NM_020808.3;	G	ENST00000366630	Transcript	missense_variant	603/6690	244/5169	82/1722	E/Q	Gaa/Caa	COSM4764804,COSM5209225	1		-1	SIPA1L2	HGNC	HGNC:23800	protein_coding	YES	CCDS41474.1	ENSP00000355589	Q9P2F8		UPI00001D7D6A		deleterious(0)		2/22		hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												G	3	3	46	232515096	232515096	C	G	1	0	0	0	0	1	0	0	0	14593	835	29	4		4	SIPA1L2	1	232515096	Missense_Mutation	SNP	C	C3N-00294_TP	696713	232515096	16441326	138	13640											
MAP10	0	.	GRCh38	chr1	232806821	232806821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgttctgtggggggatgtGaaaagtcagtgagtcttcag	9	11	16	5	1	4	2	2	2	2	0	4	3	4	3	0	3	1	1	0	3	2	2	rs374691511		C3N-00294_TP	C3N-00294_NB	G	G																c.1798G>A	p.Glu600Lys	p.E600K	ENST00000418460	1/1	108	97	11	112	112	0	strelka-varscan-mutect	MAP10,missense_variant,p.Glu600Lys,ENST00000418460,NM_019090.2;	A	ENST00000418460	Transcript	missense_variant	1930/3516	1798/3144	600/1047	E/K	Gaa/Aaa	rs374691511,COSM1999154,COSM1999155	1		1	MAP10	HGNC	HGNC:29265	protein_coding	YES	CCDS44334.1	ENSP00000403208	Q9P2G4		UPI0000418F25	NM_019090.2	tolerated(0.17)		1/1		Pfam_domain:PF14925,hmmpanther:PTHR21831,hmmpanther:PTHR21831:SF2											0,1,1						MODERATE	1	SNV			0,1,1	1										PASS		rs374691511	.												A	3	1	46	232806821	232806821	G	A	1	0	0	0	0	1	0	0	0	9149	1291	45	3		3	MAP10	1	232806821	Missense_Mutation	SNP	G	C3N-00294_TP	291725	232806821	16149601	139	13641											
LYST	0	.	GRCh38	chr1	235808939	235808939	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatttttggtgatatctCtgctcctcctaactgatcca	8	18	5	10	0	1	2	0	2	1	0	5	2	4	2	3	1	2	1	3	1	3	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1879G>T	p.Glu627Ter	p.E627*	ENST00000389793	5/53	92	83	9	75	75	0	strelka-varscan-mutect	LYST,stop_gained,p.Glu627Ter,ENST00000389793,NM_000081.3,NM_001301365.1;LYST,stop_gained,p.Glu627Ter,ENST00000389794,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;LYST,non_coding_transcript_exon_variant,,ENST00000465349,;	A	ENST00000389793	Transcript	stop_gained	2054/13480	1879/11406	627/3801	E/*	Gag/Tag		1		-1	LYST	HGNC	HGNC:1968	protein_coding	YES	CCDS31062.1	ENSP00000374443	Q99698		UPI000020509E	NM_000081.3,NM_001301365.1			5/53		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF86,Superfamily_domains:SSF48371																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	46	235808939	235808939	C	A	1	0	0	0	0	0	1	0	0	9041	922	32	2		2	LYST	1	235808939	Nonsense_Mutation	SNP	C	C3N-00294_TP	3002118	235808939	13147483	140	13642											
NID1	0	.	GRCh38	chr1	236029586	236029586	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtacagctccgtgtagggctCaatgtgcacggaggagccga	9	7	15	10	3	1	0	1	0	0	0	2	3	2	2	2	3	4	5	2	3	3	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1702G>C	p.Glu568Gln	p.E568Q	ENST00000264187	7/20	373	313	60	301	301	0	strelka-varscan-mutect	NID1,missense_variant,p.Glu568Gln,ENST00000264187,NM_002508.2;NID1,missense_variant,p.Glu568Gln,ENST00000366595,;	G	ENST00000264187	Transcript	missense_variant	1785/5864	1702/3744	568/1247	E/Q	Gag/Cag		1		-1	NID1	HGNC	HGNC:7821	protein_coding	YES	CCDS1608.1	ENSP00000264187	P14543		UPI000013D4D9	NM_002508.2	tolerated(0.07)		7/20		Gene3D:2.40.155.10,Pfam_domain:PF07474,PROSITE_profiles:PS50993,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF107,SMART_domains:SM00682,Superfamily_domains:SSF54511																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	236029586	236029586	C	G	1	0	0	0	0	1	0	0	0	10447	835	29	4		4	NID1	1	236029586	Missense_Mutation	SNP	C	C3N-00294_TP	220647	236029586	12926836	141	13643											
NID1	0	.	GRCh38	chr1	236029745	236029745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagcctggcgagtgaactCaccccctgaaaaacaagatg	13	6	9	13	1	2	3	2	2	0	1	2	4	2	3	3	1	3	0	3	1	4	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1543G>A	p.Glu515Lys	p.E515K	ENST00000264187	7/20	270	228	42	215	215	0	strelka-varscan-mutect	NID1,missense_variant,p.Glu515Lys,ENST00000264187,NM_002508.2;NID1,missense_variant,p.Glu515Lys,ENST00000366595,;	T	ENST00000264187	Transcript	missense_variant	1626/5864	1543/3744	515/1247	E/K	Gag/Aag		1		-1	NID1	HGNC	HGNC:7821	protein_coding	YES	CCDS1608.1	ENSP00000264187	P14543		UPI000013D4D9	NM_002508.2	tolerated(0.13)		7/20		Gene3D:2.40.155.10,Pfam_domain:PF07474,PROSITE_profiles:PS50993,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF107,SMART_domains:SM00682,Superfamily_domains:SSF54511																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	236029745	236029745	C	T	1	0	0	0	0	1	0	0	0	10447	840	29	3		3	NID1	1	236029745	Missense_Mutation	SNP	C	C3N-00294_TP	159	236029745	12926677	142	13644											
NID1	0	.	GRCh38	chr1	236042003	236042003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaaagacctggttctctCtgtgggaggtccaaggggcc	7	9	15	10	0	2	1	0	0	2	1	4	3	3	3	3	6	0	1	3	6	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1042G>A	p.Glu348Lys	p.E348K	ENST00000264187	4/20	211	187	24	165	165	0	strelka-varscan-mutect	NID1,missense_variant,p.Glu348Lys,ENST00000264187,NM_002508.2;NID1,missense_variant,p.Glu348Lys,ENST00000366595,;	T	ENST00000264187	Transcript	missense_variant	1125/5864	1042/3744	348/1247	E/K	Gag/Aag		1		-1	NID1	HGNC	HGNC:7821	protein_coding	YES	CCDS1608.1	ENSP00000264187	P14543		UPI000013D4D9	NM_002508.2	tolerated(0.51)		4/20																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	236042003	236042003	C	T	1	0	0	0	0	1	0	0	0	10447	922	32	3		3	NID1	1	236042003	Missense_Mutation	SNP	C	C3N-00294_TP	12258	236042003	12914419	143	13645											
GPR137B	0	.	GRCh38	chr1	236178434	236178434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgcccctctacctggcctCcctcttcatcagccttgttt	3	15	6	17	0	4	0	2	0	2	0	5	0	5	0	6	1	3	2	6	1	1	5	rs764184387		C3N-00294_TP	C3N-00294_NB	C	C																c.485C>T	p.Ser162Phe	p.S162F	ENST00000366592	3/7	245	215	30	151	151	0	strelka-varscan-mutect	GPR137B,missense_variant,p.Ser162Phe,ENST00000366592,NM_003272.3;GPR137B,missense_variant,p.Ser26Phe,ENST00000454895,;GPR137B,synonymous_variant,p.=,ENST00000419162,;GPR137B,intron_variant,,ENST00000366591,;	T	ENST00000366592	Transcript	missense_variant	576/2042	485/1200	162/399	S/F	tCc/tTc	rs764184387	1		1	GPR137B	HGNC	HGNC:11862	protein_coding	YES	CCDS1609.1	ENSP00000355551	O60478		UPI0000050441	NM_003272.3	tolerated(1)		3/7		Transmembrane_helices:TMhelix,hmmpanther:PTHR15146:SF0,hmmpanther:PTHR15146																	MODERATE	1	SNV	1			1										PASS		rs764184387	.												T	3	4	46	236178434	236178434	C	T	1	0	0	0	0	1	0	0	0	6532	855	30	3		3	GPR137B	1	236178434	Missense_Mutation	SNP	C	C3N-00294_TP	136431	236178434	12777988	144	13646											
HEATR1	0	.	GRCh38	chr1	236590928	236590928	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatgattcaggctgagcatCaaagaagtatcagaatctgc	14	9	11	7	0	4	4	3	2	1	2	4	5	4	5	0	2	2	3	0	2	4	2			C3N-00294_TP	C3N-00294_NB	C	C																c.1449G>C	p.Leu483Phe	p.L483F	ENST00000366582	12/45	93	87	6	71	71	0	strelka-mutect	HEATR1,missense_variant,p.Leu483Phe,ENST00000366582,NM_018072.5;HEATR1,missense_variant,p.Leu483Phe,ENST00000366581,;HEATR1,downstream_gene_variant,,ENST00000483073,;	G	ENST00000366582	Transcript	missense_variant	1564/8447	1449/6435	483/2144	L/F	ttG/ttC	COSM4793243	1		-1	HEATR1	HGNC	HGNC:25517	protein_coding	YES	CCDS31066.1	ENSP00000355541	Q9H583		UPI000013D4D4	NM_018072.5	deleterious(0)		12/45		Gene3D:1.25.10.10,hmmpanther:PTHR13457,hmmpanther:PTHR13457:SF1,Superfamily_domains:SSF48371											1						MODERATE	1	SNV	5		1	1										PASS		.	.												G	3	3	46	236590928	236590928	C	G	1	0	0	0	0	1	0	0	0	6910	825	29	4		4	HEATR1	1	236590928	Missense_Mutation	SNP	C	C3N-00294_TP	412494	236590928	12365494	145	13647											
MTR	0	.	GRCh38	chr1	236853056	236853056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatctggaataaagaccctGaggccactgagaagctctta	13	9	9	10	0	3	3	1	2	2	2	3	5	3	4	2	2	1	1	2	2	5	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1921G>A	p.Glu641Lys	p.E641K	ENST00000366577	18/33	576	499	77	483	482	1	strelka-varscan-mutect	MTR,missense_variant,p.Glu641Lys,ENST00000366577,NM_000254.2;MTR,missense_variant,p.Glu641Lys,ENST00000535889,NM_001291939.1;MTR,missense_variant,p.Glu195Lys,ENST00000366576,NM_001291940.1;MTR,non_coding_transcript_exon_variant,,ENST00000463959,;	A	ENST00000366577	Transcript	missense_variant	2315/10529	1921/3798	641/1265	E/K	Gag/Aag		1		1	MTR	HGNC	HGNC:7468	protein_coding	YES	CCDS1614.1	ENSP00000355536	Q99707		UPI0000036BC4	NM_000254.2	deleterious(0.05)		18/33		TIGRFAM_domain:TIGR02082,Gene3D:3.20.20.20,PIRSF_domain:PIRSF000381,Superfamily_domains:SSF51717																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	236853056	236853056	G	A	1	0	0	0	0	1	0	0	0	9944	1291	45	3		3	MTR	1	236853056	Missense_Mutation	SNP	G	C3N-00294_TP	262128	236853056	12103366	146	13648											
RYR2	0	.	GRCh38	chr1	237590766	237590766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcatgccgatcgagtgcgcgGaggtcttctccaagacggtg	7	8	15	11	5	2	1	0	0	2	1	4	4	2	2	2	3	2	1	2	3	1	1			C3N-00294_TP	C3N-00294_NB	G	G																c.3934G>A	p.Glu1312Lys	p.E1312K	ENST00000366574	31/105	141	126	15	110	110	0	strelka-varscan-mutect	RYR2,missense_variant,p.Glu1312Lys,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Glu1296Lys,ENST00000360064,;	A	ENST00000366574	Transcript	missense_variant	4251/16562	3934/14904	1312/4967	E/K	Gag/Aag	COSM4546126,COSM4546127	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.15)		31/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	46	237590766	237590766	G	A	1	0	0	0	0	1	0	0	0	14029	1175	41	3		3	RYR2	1	237590766	Missense_Mutation	SNP	G	C3N-00294_TP	737710	237590766	11365656	147	13649											
RYR2	0	.	GRCh38	chr1	237674184	237674184	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaaagcacaggacatcctCaagttcttgcagatcaatgg	15	8	9	9	0	3	1	2	0	1	1	4	3	4	2	1	2	2	3	1	2	4	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.8679C>T	p.=	p.L2893L	ENST00000366574	59/105	117	105	12	113	113	0	strelka-varscan-mutect	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,upstream_gene_variant,,ENST00000609119,;	T	ENST00000366574	Transcript	synonymous_variant	8996/16562	8679/14904	2893/4967	L	ctC/ctT		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			59/105		Pfam_domain:PF02026,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	237674184	237674184	C	T	1	0	0	0	0	0	0	0	1	14029	813	29	3		3	RYR2	1	237674184	Silent	SNP	C	C3N-00294_TP	83418	237674184	11282238	148	13650											
RYR2	0	.	GRCh38	chr1	237707217	237707217	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctagggaacatattgaaaatCatatataataacttggggat	17	12	8	4	0	1	1	1	1	0	0	1	3	1	3	0	3	2	0	0	3	9	8			C3N-00294_TP	C3N-00294_NB	C	C																c.9849C>T	p.=	p.I3283I	ENST00000366574	68/105	91	74	17	88	88	0	strelka-varscan-mutect	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	T	ENST00000366574	Transcript	synonymous_variant	10166/16562	9849/14904	3283/4967	I	atC/atT	COSM425711,COSM5207125	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			68/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1359021268	.												T	2	4	46	237707217	237707217	C	T	1	0	0	0	0	0	0	0	1	14029	816	29	3		3	RYR2	1	237707217	Silent	SNP	C	C3N-00294_TP	33033	237707217	11249205	149	13651											
FMN2	0	.	GRCh38	chr1	240092583	240092583	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctagggtcgggggccggccGatcgccgaggatgtggaaac	7	5	19	10	5	0	0	0	0	0	0	2	4	0	2	3	6	1	1	3	6	2	1			C3N-00294_TP	C3N-00294_NB	G	G																c.474G>A	p.=	p.P158P	ENST00000319653	1/18	249	205	44	195	195	0	strelka-varscan-mutect	FMN2,synonymous_variant,p.=,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,intron_variant,,ENST00000447095,;	A	ENST00000319653	Transcript	synonymous_variant	704/6434	474/5169	158/1722	P	ccG/ccA	COSM679805	1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4			1/18													1						LOW	1	SNV	5		1	1										PASS		rs1198977248	.												A	2	1	46	240092583	240092583	G	A	1	0	0	0	0	0	0	0	1	5806	1045	37	1		1	FMN2	1	240092583	Silent	SNP	G	C3N-00294_TP	2385366	240092583	8863839	150	13652											
FMN2	0	.	GRCh38	chr1	240207892	240207892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctccaccccctctacccgGagcgggcataccccctccgc	5	6	7	23	3	1	0	0	0	1	0	4	1	4	1	8	2	3	1	8	2	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3080G>A	p.Gly1027Glu	p.G1027E	ENST00000319653	5/18	58	53	5	64	64	0	varscan-mutect	FMN2,missense_variant,p.Gly1027Glu,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;	A	ENST00000319653	Transcript	missense_variant	3310/6434	3080/5169	1027/1722	G/E	gGa/gAa		1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4	deleterious_low_confidence(0.01)		5/18		Pfam_domain:PF06346,Prints_domain:PR01217,Low_complexity_(Seg):seg,SMART_domains:SM00498																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	240207892	240207892	G	A	1	0	0	0	0	1	0	0	0	5806	1174	41	3		3	FMN2	1	240207892	Missense_Mutation	SNP	G	C3N-00294_TP	115309	240207892	8748530	151	13653											
FMN2	0	.	GRCh38	chr1	240329415	240329415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttccagtccacattttcaGaaagcatttgctcaattcgt	10	15	6	10	1	2	1	2	0	0	1	5	1	4	1	2	0	2	3	2	0	2	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4384G>C	p.Glu1462Gln	p.E1462Q	ENST00000319653	10/18	205	175	30	166	166	0	strelka-varscan-mutect	FMN2,missense_variant,p.Glu1462Gln,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,5_prime_UTR_variant,,ENST00000545751,;FMN2,downstream_gene_variant,,ENST00000441342,;FMN2,non_coding_transcript_exon_variant,,ENST00000463398,;	C	ENST00000319653	Transcript	missense_variant	4614/6434	4384/5169	1462/1722	E/Q	Gaa/Caa		1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4	deleterious(0.01)		10/18		Pfam_domain:PF02181,PROSITE_profiles:PS51444,hmmpanther:PTHR13037,SMART_domains:SM00498,Superfamily_domains:SSF101447																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	46	240329415	240329415	G	C	1	0	0	0	0	1	0	0	0	5806	943	33	4		4	FMN2	1	240329415	Missense_Mutation	SNP	G	C3N-00294_TP	121523	240329415	8627007	152	13654											
RGS7	0	.	GRCh38	chr1	240816387	240816387	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgggtaggactgtgacttCtaatatcattttgtaaacca	11	15	9	6	0	2	1	1	1	1	0	2	2	2	2	1	2	1	2	1	2	5	7			C3N-00294_TP	C3N-00294_NB	C	C																c.713G>C	p.Arg238Thr	p.R238T	ENST00000366565	11/18	331	294	37	333	333	0	strelka-varscan-mutect	RGS7,missense_variant,p.Arg238Thr,ENST00000366565,NM_002924.5;RGS7,missense_variant,p.Arg238Thr,ENST00000366564,NM_001282778.1;RGS7,missense_variant,p.Arg238Thr,ENST00000366563,NM_001282775.1;RGS7,missense_variant,p.Arg185Thr,ENST00000348120,NM_001282773.1;RGS7,missense_variant,p.Arg69Thr,ENST00000440928,;	G	ENST00000366565	Transcript	missense_variant	1095/2494	713/1464	238/487	R/T	aGa/aCa	COSM363182,COSM4980445,COSM4980446,COSM4980447	1		-1	RGS7	HGNC	HGNC:10003	protein_coding	YES	CCDS31071.1	ENSP00000355523	P49802		UPI000040E182	NM_002924.5	tolerated(0.35)		11/18		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF26											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												G	3	3	46	240816387	240816387	C	G	1	0	0	0	0	1	0	0	0	13481	913	32	4		4	RGS7	1	240816387	Missense_Mutation	SNP	C	C3N-00294_TP	486972	240816387	8140035	153	13655											
CEP170	0	.	GRCh38	chr1	243126475	243126475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtactgtaacatcttcctCttccccatcggggttgaatc	7	15	7	12	1	2	1	0	1	2	0	6	1	4	1	3	2	2	3	3	2	3	6			C3N-00294_TP	C3N-00294_NB	C	C																c.4729G>A	p.Glu1577Lys	p.E1577K	ENST00000366542	20/20	186	157	29	131	131	0	strelka-varscan-mutect	CEP170,missense_variant,p.Glu1577Lys,ENST00000366542,NM_014812.2;CEP170,missense_variant,p.Glu1479Lys,ENST00000366544,NM_001042404.1;CEP170,missense_variant,p.Glu1453Lys,ENST00000366543,NM_001042405.1;CEP170,missense_variant,p.Glu1551Lys,ENST00000336415,;CEP170,missense_variant,p.Glu313Lys,ENST00000481987,;CEP170,missense_variant,p.Glu286Lys,ENST00000490813,;CEP170,downstream_gene_variant,,ENST00000413359,;CEP170,downstream_gene_variant,,ENST00000464936,;CEP170,non_coding_transcript_exon_variant,,ENST00000468254,;CEP170,non_coding_transcript_exon_variant,,ENST00000466495,;CEP170,intron_variant,,ENST00000476661,;CEP170,downstream_gene_variant,,ENST00000469646,;CEP170,non_coding_transcript_exon_variant,,ENST00000439296,;	T	ENST00000366542	Transcript	missense_variant	4781/6828	4729/4755	1577/1584	E/K	Gag/Aag	COSM4030223,COSM679639	1		-1	CEP170	HGNC	HGNC:28920	protein_coding	YES	CCDS44339.1	ENSP00000355500	Q5SW79		UPI0000470238	NM_014812.2	tolerated_low_confidence(0.06)		20/20													1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	46	243126475	243126475	C	T	1	0	0	0	0	1	0	0	0	2964	922	32	3		3	CEP170	1	243126475	Missense_Mutation	SNP	C	C3N-00294_TP	2310088	243126475	5829947	154	13656											
AKT3	0	.	GRCh38	chr1	243572951	243572951	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatcacggtacacaatctttCcggaatgtagatagtccaag	13	10	9	9	2	2	1	1	0	1	1	4	3	4	2	2	2	1	2	2	2	6	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.794G>C	p.Gly265Ala	p.G265A	ENST00000263826	8/13	158	132	26	107	107	0	strelka-varscan-mutect	AKT3,missense_variant,p.Gly265Ala,ENST00000263826,NM_005465.4;AKT3,missense_variant,p.Gly265Ala,ENST00000366539,;AKT3,missense_variant,p.Gly265Ala,ENST00000336199,NM_181690.2;AKT3,missense_variant,p.Gly265Ala,ENST00000366540,NM_001206729.1;	G	ENST00000263826	Transcript	missense_variant	906/7081	794/1440	265/479	G/A	gGa/gCa		1		-1	AKT3	HGNC	HGNC:393	protein_coding	YES	CCDS31077.1	ENSP00000263826	Q9Y243		UPI00000335E8	NM_005465.4	tolerated(0.47)		8/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF190,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	243572951	243572951	C	G	1	0	0	0	0	1	0	0	0	564	855	30	4		4	AKT3	1	243572951	Missense_Mutation	SNP	C	C3N-00294_TP	446476	243572951	5383471	155	13657											
HNRNPU	0	.	GRCh38	chr1	244856042	244856042	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtttcttttctggtggaaGagcctttttgctttcttcct	3	21	8	9	0	3	1	0	0	3	1	4	2	4	2	2	2	2	2	2	2	1	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2029C>G	p.Leu677Val	p.L677V	ENST00000283179	11/14	507	431	76	369	369	0	strelka-varscan-mutect	HNRNPU,missense_variant,p.Leu658Val,ENST00000444376,NM_004501.3;HNRNPU,missense_variant,p.Leu677Val,ENST00000283179,NM_031844.2;HNRNPU,downstream_gene_variant,,ENST00000440865,;HNRNPU,non_coding_transcript_exon_variant,,ENST00000366525,;HNRNPU,downstream_gene_variant,,ENST00000465881,;HNRNPU,downstream_gene_variant,,ENST00000483966,;HNRNPU,downstream_gene_variant,,ENST00000468690,;HNRNPU,upstream_gene_variant,,ENST00000475997,;HNRNPU,upstream_gene_variant,,ENST00000489705,;	C	ENST00000283179	Transcript	missense_variant	2193/3704	2029/2478	677/825	L/V	Ctt/Gtt		1		-1	HNRNPU	HGNC	HGNC:5048	protein_coding	YES	CCDS41479.1	ENSP00000283179	Q00839		UPI000040E1C8	NM_031844.2	tolerated(0.16)		11/14		hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	244856042	244856042	G	C	1	0	0	0	0	1	0	0	0	7168	942	33	4		4	HNRNPU	1	244856042	Missense_Mutation	SNP	G	C3N-00294_TP	1283091	244856042	4100380	156	13658											
ZNF670	0	.	GRCh38	chr1	247037621	247037621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacatccataaggtttcactCcagtgtgagttctttcatgc	9	15	7	10	0	3	1	2	1	1	0	5	1	5	1	2	1	2	2	2	1	2	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.998G>C	p.Gly333Ala	p.G333A	ENST00000366503	4/4	223	185	38	173	173	0	strelka-varscan-mutect	ZNF670,missense_variant,p.Gly333Ala,ENST00000366503,NM_001204220.1,NM_033213.4;ZNF670-ZNF695,intron_variant,,ENST00000474541,;ZNF670-ZNF695,intron_variant,,ENST00000465049,;	G	ENST00000366503	Transcript	missense_variant	1157/1994	998/1170	333/389	G/A	gGa/gCa		1		-1	ZNF670	HGNC	HGNC:28167	protein_coding	YES	CCDS31087.1	ENSP00000355459	Q9BS34		UPI0000070EC3	NM_001204220.1,NM_033213.4	deleterious(0.04)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF168,Gene3D:3.30.160.60,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	247037621	247037621	C	G	1	0	0	0	0	1	0	0	0	18651	855	30	4		4	ZNF670	1	247037621	Missense_Mutation	SNP	C	C3N-00294_TP	2181579	247037621	1918801	157	13659											
NLRP3	0	.	GRCh38	chr1	247423962	247423962	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctacacacgactgcgtctCatcaaggagcaccggagcca	11	5	10	15	4	2	0	2	0	1	0	3	3	2	2	2	2	4	2	2	2	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.519C>T	p.=	p.L173L	ENST00000336119	3/9	668	594	74	522	522	0	strelka-varscan-mutect	NLRP3,synonymous_variant,p.=,ENST00000366497,NM_001127461.2;NLRP3,synonymous_variant,p.=,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,synonymous_variant,p.=,ENST00000366496,;NLRP3,synonymous_variant,p.=,ENST00000391828,NM_001079821.2;NLRP3,synonymous_variant,p.=,ENST00000348069,NM_183395.2;NLRP3,synonymous_variant,p.=,ENST00000391827,NM_001127462.2;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	T	ENST00000336119	Transcript	synonymous_variant	1265/4170	519/3111	173/1036	L	ctC/ctT		1		1	NLRP3	HGNC	HGNC:16400	protein_coding	YES	CCDS1632.1	ENSP00000337383	Q96P20		UPI00001CE3AD	NM_004895.4,NM_001243133.1			3/9		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4,Pfam_domain:PF14484,SMART_domains:SM01288																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	247423962	247423962	C	T	1	0	0	0	0	0	0	0	1	10516	813	29	3		3	NLRP3	1	247423962	Silent	SNP	C	C3N-00294_TP	386341	247423962	1532460	158	13660											
OR2G3	0	.	GRCh38	chr1	247605987	247605987	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacccctccactatgtagtCatcatgaacccacggctttg	11	10	6	14	1	2	1	2	1	0	0	3	1	3	1	4	1	2	2	4	1	4	3			C3N-00294_TP	C3N-00294_NB	C	C																c.402C>G	p.=	p.V134V	ENST00000320002	1/1	243	212	31	176	176	0	strelka-varscan-mutect	OR2G3,synonymous_variant,p.=,ENST00000320002,NM_001001914.1;U6,downstream_gene_variant,,ENST00000637707,;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;	G	ENST00000320002	Transcript	synonymous_variant	402/930	402/930	134/309	V	gtC/gtG	COSM680671	1		1	OR2G3	HGNC	HGNC:15008	protein_coding	YES	CCDS31093.1	ENSP00000326301	Q8NGZ4	A0A126GVX0	UPI0000041CD9	NM_001001914.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF300,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245											1						LOW		SNV			1	1										PASS		.	.												G	2	3	46	247605987	247605987	C	G	1	0	0	0	0	0	0	0	1	11077	813	29	4		4	OR2G3	1	247605987	Silent	SNP	C	C3N-00294_TP	182025	247605987	1350435	159	13661											
OR2M7	0	.	GRCh38	chr1	248323798	248323798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtgggctgaatgcacatGaacaaacctgctccatagta	13	9	10	9	0	0	2	0	2	0	0	1	3	1	2	2	1	4	4	2	1	5	2	rs190559379		C3N-00294_TP	C3N-00294_NB	G	G																c.771C>T	p.=	p.F257F	ENST00000317965	1/1	240	200	40	161	161	0	strelka-varscan-mutect	OR2M7,synonymous_variant,p.=,ENST00000317965,NM_001004691.1;	A	ENST00000317965	Transcript	synonymous_variant	771/939	771/939	257/312	F	ttC/ttT	rs190559379	1		-1	OR2M7	HGNC	HGNC:19594	protein_coding	YES	CCDS31111.1	ENSP00000324557	Q8NG81	A0A126GVZ1	UPI000004B236	NM_001004691.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF28,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs190559379	.												A	2	1	46	248323798	248323798	G	A	1	0	0	0	0	0	0	0	1	11092	1281	45	3		3	OR2M7	1	248323798	Silent	SNP	G	C3N-00294_TP	717811	248323798	632624	160	13662											
OR2T1	0	.	GRCh38	chr1	248407075	248407075	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccttggggaggttcaagggtCctcaaagggtgtcaggaggt	8	9	17	7	0	3	0	3	0	0	0	4	2	4	2	2	7	0	1	2	7	2	2	rs866541288		C3N-00294_TP	C3N-00294_NB	C	C																c.1081C>G	p.Pro361Ala	p.P361A	ENST00000366474	1/1	80	73	7	58	58	0	strelka-varscan-mutect	OR2T1,missense_variant,p.Pro361Ala,ENST00000366474,NM_030904.1;	G	ENST00000366474	Transcript	missense_variant	1081/1110	1081/1110	361/369	P/A	Cct/Gct	rs866541288	1		1	OR2T1	HGNC	HGNC:8277	protein_coding	YES	CCDS31115.1	ENSP00000355430	O43869	A0A126GVY3	UPI00003B2872	NM_030904.1	tolerated(0.57)		1/1		hmmpanther:PTHR26453:SF125,hmmpanther:PTHR26453,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs866541288	.												G	3	3	46	248407075	248407075	C	G	1	0	0	0	0	1	0	0	0	11094	855	30	4		4	OR2T1	1	248407075	Missense_Mutation	SNP	C	C3N-00294_TP	83277	248407075	549347	161	13663											
OR2T2	0	.	GRCh38	chr1	248453718	248453718	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctctgaggaaagtactaggGagatgtggttcctcccagag	10	9	14	8	0	1	3	0	1	1	2	3	5	3	4	2	3	1	3	2	3	3	3			C3N-00294_TP	C3N-00294_NB	G	G																c.921G>A	p.=	p.G307G	ENST00000342927	1/1	266	238	28	263	262	1	varscan-mutect	OR2T2,synonymous_variant,p.=,ENST00000342927,NM_001004136.1;	A	ENST00000342927	Transcript	synonymous_variant	921/975	921/975	307/324	G	ggG/ggA	COSM5536110	1		1	OR2T2	HGNC	HGNC:14725	protein_coding	YES	CCDS31116.1	ENSP00000343062	Q6IF00		UPI0000048DB0	NM_001004136.1			1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Superfamily_domains:SSF81321											1						LOW	1	SNV			1	1										PASS		.	.												A	2	1	46	248453718	248453718	G	A	1	0	0	0	0	0	0	0	1	11097	1161	41	3		3	OR2T2	1	248453718	Silent	SNP	G	C3N-00294_TP	46643	248453718	502704	162	13664											
OR2T35	0	.	GRCh38	chr1	248638341	248638341	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctctgggaggaaccacatctCcctagtactttcctcagagc	9	10	8	14	0	3	1	1	0	2	1	5	3	4	3	3	2	3	1	3	2	3	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.918G>A	p.=	p.G306G	ENST00000317450	1/1	206	184	22	132	132	0	varscan-mutect	OR2T35,synonymous_variant,p.=,ENST00000317450,NM_001001827.1;	T	ENST00000317450	Transcript	synonymous_variant	918/972	918/972	306/323	G	ggG/ggA		1		-1	OR2T35	HGNC	HGNC:31257	protein_coding	YES	CCDS31123.1	ENSP00000324369	Q8NGX2		UPI0000061ED3	NM_001001827.1			1/1		hmmpanther:PTHR26453:SF18,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	46	248638341	248638341	C	T	1	0	0	0	0	0	0	0	1	11103	842	30	3		3	OR2T35	1	248638341	Silent	SNP	C	C3N-00294_TP	184623	248638341	318081	163	13665											
ASAP2	0	.	GRCh38	chr2	9279381	9279381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtgaaagcaatcaacagctCtgggctgggtgagtatacat	12	9	12	8	1	2	2	1	2	1	0	2	2	2	2	0	2	4	4	0	2	5	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.191C>T	p.Ser64Phe	p.S64F	ENST00000281419	2/28	250	214	36	247	247	0	strelka-varscan-mutect	ASAP2,missense_variant,p.Ser64Phe,ENST00000281419,NM_003887.2;ASAP2,missense_variant,p.Ser64Phe,ENST00000315273,NM_001135191.1;	T	ENST00000281419	Transcript	missense_variant	531/5712	191/3021	64/1006	S/F	tCt/tTt		1		1	ASAP2	HGNC	HGNC:2721	protein_coding	YES	CCDS1661.1	ENSP00000281419	O43150		UPI0000073459	NM_003887.2	deleterious(0)		2/28		Pfam_domain:PF16746,Gene3D:1.20.1270.60,Superfamily_domains:SSF103657																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	9279381	9279381	C	T	1	0	0	0	0	1	0	0	0	1153	913	32	3		3	ASAP2	2	9279381	Missense_Mutation	SNP	C	C3N-00294_TP		9279381	232914148	164	13666											
CPSF3	0	.	GRCh38	chr2	9432671	9432671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagccgccatgttcatgattGagatcgcaggcgtgaaggta	10	9	14	8	3	1	3	1	3	0	1	2	5	1	3	2	2	1	3	2	2	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.502G>C	p.Glu168Gln	p.E168Q	ENST00000238112	5/18	118	102	16	87	87	0	strelka-varscan-mutect	CPSF3,missense_variant,p.Glu131Gln,ENST00000460593,;CPSF3,missense_variant,p.Glu168Gln,ENST00000238112,NM_016207.3;CPSF3,missense_variant,p.Glu131Gln,ENST00000475482,;	C	ENST00000238112	Transcript	missense_variant	708/2345	502/2055	168/684	E/Q	Gag/Cag		1		1	CPSF3	HGNC	HGNC:2326	protein_coding	YES	CCDS1664.1	ENSP00000238112	Q9UKF6		UPI00001282F5	NM_016207.3	deleterious(0.03)		5/18		hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF11,Gene3D:3.60.15.10,Pfam_domain:PF00753,SMART_domains:SM00849,Superfamily_domains:SSF56281																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	9432671	9432671	G	C	1	0	0	0	0	1	0	0	0	3622	1291	45	4		4	CPSF3	2	9432671	Missense_Mutation	SNP	G	C3N-00294_TP	153290	9432671	232760858	165	13667											
GREB1	0	.	GRCh38	chr2	11620950	11620950	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcctcagtgtcctgtccAggatgcttgttcggctcaca	6	13	10	12	1	2	0	2	0	0	0	6	1	5	1	3	2	1	4	3	2	0	3	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.4090A>T	p.Arg1364Trp	p.R1364W	ENST00000381486	23/33	266	123	143	236	236	0	strelka-varscan-mutect	GREB1,missense_variant,p.Arg1364Trp,ENST00000381486,NM_014668.3;GREB1,missense_variant,p.Arg1364Trp,ENST00000234142,;GREB1,missense_variant,p.Arg362Trp,ENST00000396123,;GREB1,downstream_gene_variant,,ENST00000472040,;	T	ENST00000381486	Transcript	missense_variant	4390/8484	4090/5850	1364/1949	R/W	Agg/Tgg		1		1	GREB1	HGNC	HGNC:24885	protein_coding	YES	CCDS42655.1	ENSP00000370896	Q4ZG55		UPI0000163937	NM_014668.3	deleterious(0)		23/33		Pfam_domain:PF15782,hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	11620950	11620950	A	T	1	0	0	0	0	1	0	0	0	6639	179	7	4		4	GREB1	2	11620950	Missense_Mutation	SNP	A	C3N-00294_TP	2188279	11620950	230572579	166	13668											
DDX1	0	.	GRCh38	chr2	15628458	15628458	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttagaaaggagatgtaaGattcttgatttgcacagatg	13	14	10	4	0	2	5	0	1	2	4	2	6	2	5	0	1	1	2	0	1	3	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1700G>C	p.Arg567Thr	p.R567T	ENST00000381341	22/27	105	85	20	169	169	0	strelka-varscan-mutect	DDX1,missense_variant,p.Arg567Thr,ENST00000381341,;DDX1,missense_variant,p.Arg567Thr,ENST00000233084,NM_004939.2;DDX1,missense_variant,p.Arg486Thr,ENST00000617198,;DDX1,missense_variant,p.Arg486Thr,ENST00000621973,;DDX1,non_coding_transcript_exon_variant,,ENST00000470674,;DDX1,downstream_gene_variant,,ENST00000478695,;	C	ENST00000381341	Transcript	missense_variant	2089/2817	1700/2223	567/740	R/T	aGa/aCa		1		1	DDX1	HGNC	HGNC:2734	protein_coding	YES	CCDS1686.1	ENSP00000370745	Q92499	A3RJH1	UPI00001290D1		deleterious(0.01)		22/27		PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF307,hmmpanther:PTHR24031,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	46	15628458	15628458	G	C	1	0	0	0	0	1	0	0	0	4145	942	33	4		4	DDX1	2	15628458	Missense_Mutation	SNP	G	C3N-00294_TP	4007508	15628458	226565071	167	13669											
DDX1	0	.	GRCh38	chr2	15630006	15630006	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagttactatctgagatagAagaacacctgaactgtacca	15	11	7	8	0	1	4	0	2	1	3	1	5	1	4	2	0	4	2	2	0	8	5	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.1988A>T	p.Glu663Val	p.E663V	ENST00000381341	26/27	177	79	98	133	133	0	strelka-varscan-mutect	DDX1,missense_variant,p.Glu663Val,ENST00000381341,;DDX1,missense_variant,p.Glu663Val,ENST00000233084,NM_004939.2;DDX1,missense_variant,p.Glu582Val,ENST00000617198,;DDX1,missense_variant,p.Glu582Val,ENST00000621973,;DDX1,downstream_gene_variant,,ENST00000470674,;DDX1,downstream_gene_variant,,ENST00000478695,;	T	ENST00000381341	Transcript	missense_variant	2377/2817	1988/2223	663/740	E/V	gAa/gTa		1		1	DDX1	HGNC	HGNC:2734	protein_coding	YES	CCDS1686.1	ENSP00000370745	Q92499	A3RJH1	UPI00001290D1		deleterious(0)		26/27		PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF307,hmmpanther:PTHR24031,Gene3D:3.40.50.300																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	15630006	15630006	A	T	1	0	0	0	0	1	0	0	0	4145	246	9	4		4	DDX1	2	15630006	Missense_Mutation	SNP	A	C3N-00294_TP	1548	15630006	226563523	168	13670											
FAM49A	0	.	GRCh38	chr2	16561528	16561528	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcattctgaatagccgggttCctcatctgaaattcagagga	11	12	9	9	1	5	3	3	2	2	1	6	4	6	4	2	2	1	1	2	2	3	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.441G>A	p.=	p.R147R	ENST00000381323	7/12	254	221	33	196	196	0	strelka-varscan-mutect	FAM49A,synonymous_variant,p.=,ENST00000381323,NM_030797.3;FAM49A,synonymous_variant,p.=,ENST00000406434,;FAM49A,downstream_gene_variant,,ENST00000451689,;FAM49A,downstream_gene_variant,,ENST00000445605,;FAM49A,upstream_gene_variant,,ENST00000469507,;	T	ENST00000381323	Transcript	synonymous_variant	662/4670	441/972	147/323	R	agG/agA		1		-1	FAM49A	HGNC	HGNC:25373	protein_coding	YES	CCDS1688.1	ENSP00000370724	Q9H0Q0		UPI0000037BBB	NM_030797.3			7/12		hmmpanther:PTHR12422,hmmpanther:PTHR12422:SF4,Pfam_domain:PF07159																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	16561528	16561528	C	T	1	0	0	0	0	0	0	0	1	5451	869	30	3		3	FAM49A	2	16561528	Silent	SNP	C	C3N-00294_TP	931522	16561528	225632001	169	13671											
APOB	0	.	GRCh38	chr2	21043549	21043549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacattttccagcatttcctCttctgtaagacaggagaaag	12	12	8	9	0	2	2	0	0	2	2	4	4	4	2	2	1	1	2	2	1	2	5	rs768728964		C3N-00294_TP	C3N-00294_NB	C	C																c.85G>C	p.Glu29Gln	p.E29Q	ENST00000233242	2/29	399	342	57	370	370	0	strelka-varscan-mutect	APOB,missense_variant,p.Glu29Gln,ENST00000233242,NM_000384.2;APOB,missense_variant,p.Glu29Gln,ENST00000399256,;	G	ENST00000233242	Transcript	missense_variant,splice_region_variant	213/14121	85/13692	29/4563	E/Q	Gag/Cag	rs768728964	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	tolerated(0.07)		2/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	MODERATE	1	SNV	1			1										PASS		rs768728964	.												G	3	3	46	21043549	21043549	C	G	1	0	0	0	0	1	0	0	0	907	927	32	4		4	APOB	2	21043549	Missense_Mutation	SNP	C	C3N-00294_TP	4482021	21043549	221149980	170	13672											
WDCP	0	.	GRCh38	chr2	24039064	24039064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttacctgggaatcatcaGagtgaacattagggaaaatg	14	10	10	7	0	2	2	2	1	0	1	2	4	2	4	2	2	2	0	2	2	6	3			C3N-00294_TP	C3N-00294_NB	G	G																c.431C>G	p.Ser144Cys	p.S144C	ENST00000295148	2/4	247	200	47	203	203	0	strelka-varscan-mutect	WDCP,missense_variant,p.Ser144Cys,ENST00000295148,NM_025203.2;WDCP,missense_variant,p.Ser144Cys,ENST00000406895,NM_001142319.1;WDCP,missense_variant,p.Ser144Cys,ENST00000443232,;MFSD2B,intron_variant,,ENST00000453731,;	C	ENST00000295148	Transcript	missense_variant	489/3817	431/2166	144/721	S/C	tCt/tGt	COSM4883451	1		-1	WDCP	HGNC	HGNC:26157	protein_coding	YES	CCDS1705.1	ENSP00000295148	Q9H6R7		UPI0000070788	NM_025203.2	tolerated(0.68)		2/4		Superfamily_domains:0047732,Pfam_domain:PF15390,hmmpanther:PTHR14897,hmmpanther:PTHR14897:SF5											1						MODERATE	1	SNV	2		1	1										PASS		.	.												C	3	2	46	24039064	24039064	G	C	1	0	0	0	0	1	0	0	0	17827	942	33	4		4	WDCP	2	24039064	Missense_Mutation	SNP	G	C3N-00294_TP	2995515	24039064	218154465	171	13673											
GAREM2	0	.	GRCh38	chr2	26187477	26187477	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagctgccctcctctattCaagccctcacatccccagaa	10	8	4	19	0	3	1	2	0	1	1	5	1	5	1	5	0	3	1	5	0	3	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1845C>G	p.Phe615Leu	p.F615L	ENST00000401533	6/6	105	88	17	70	70	0	strelka-varscan-mutect	GAREM2,missense_variant,p.Phe615Leu,ENST00000401533,NM_001168241.1;GAREM2,intron_variant,,ENST00000407684,NM_001191033.1;HADHA,downstream_gene_variant,,ENST00000380649,NM_000182.4;HADHA,downstream_gene_variant,,ENST00000492433,;GAREM2,downstream_gene_variant,,ENST00000496070,;	G	ENST00000401533	Transcript	missense_variant	1975/4161	1845/2625	615/874	F/L	ttC/ttG		1		1	GAREM2	HGNC	HGNC:27172	protein_coding	YES	CCDS54336.1	ENSP00000384593	Q75VX8		UPI0000237273	NM_001168241.1	tolerated(0.45)		6/6		hmmpanther:PTHR14454,hmmpanther:PTHR14454:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	26187477	26187477	C	G	1	0	0	0	0	1	0	0	0	6110	825	29	4		4	GAREM2	2	26187477	Missense_Mutation	SNP	C	C3N-00294_TP	2148413	26187477	216006052	172	13674											
OTOF	0	.	GRCh38	chr2	26462088	26462088	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactgctcacccaccccctCacgaagatgtcactggactt	9	8	8	16	1	3	1	3	0	0	1	3	4	3	3	3	2	1	1	3	2	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.5286G>A	p.=	p.V1762V	ENST00000272371	42/47	327	273	54	336	336	0	strelka-varscan-mutect	OTOF,synonymous_variant,p.=,ENST00000272371,NM_194248.2;OTOF,synonymous_variant,p.=,ENST00000403946,NM_001287489.1;OTOF,synonymous_variant,p.=,ENST00000402415,NM_194322.2;OTOF,synonymous_variant,p.=,ENST00000338581,NM_004802.3;OTOF,synonymous_variant,p.=,ENST00000339598,NM_194323.2;OTOF,downstream_gene_variant,,ENST00000464574,;	T	ENST00000272371	Transcript	synonymous_variant	5413/7156	5286/5994	1762/1997	V	gtG/gtA		1		-1	OTOF	HGNC	HGNC:8515	protein_coding	YES	CCDS1725.1	ENSP00000272371	Q9HC10		UPI000013D94D	NM_194248.2			42/47		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	26462088	26462088	C	T	1	0	0	0	0	0	0	0	1	11369	840	29	3		3	OTOF	2	26462088	Silent	SNP	C	C3N-00294_TP	274611	26462088	215731441	173	13675											
CENPA	0	.	GRCh38	chr2	26792783	26792783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatatgtgttaaattcactCgtggtgtggacttcaattgg	11	15	10	5	1	2	0	2	0	0	0	3	1	2	1	0	3	0	1	0	3	5	5			C3N-00294_TP	C3N-00294_NB	C	C																c.238C>T	p.Arg80Cys	p.R80C	ENST00000335756	3/5	215	182	33	188	188	0	strelka-varscan-mutect	CENPA,missense_variant,p.Arg80Cys,ENST00000335756,NM_001809.3;CENPA,intron_variant,,ENST00000233505,NM_001042426.1;CENPA,non_coding_transcript_exon_variant,,ENST00000460030,;CENPA,non_coding_transcript_exon_variant,,ENST00000472719,;CENPA,intron_variant,,ENST00000475662,;CENPA,3_prime_UTR_variant,,ENST00000419525,;	T	ENST00000335756	Transcript	missense_variant	438/1452	238/423	80/140	R/C	Cgt/Tgt	COSM1200729	1		1	CENPA	HGNC	HGNC:1851	protein_coding	YES	CCDS1729.1	ENSP00000336868	P49450		UPI00001274F6	NM_001809.3	tolerated(0.05)		3/5		hmmpanther:PTHR11426,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00428,Superfamily_domains:SSF47113											1						MODERATE	1	SNV	1		1	1										PASS		rs1392372965	.												T	3	4	46	26792783	26792783	C	T	1	0	0	0	0	1	0	0	0	2934	884	31	1		1	CENPA	2	26792783	Missense_Mutation	SNP	C	C3N-00294_TP	330695	26792783	215400746	174	13676											
EMILIN1	0	.	GRCh38	chr2	27085842	27085842	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaataagccggtggccGagagccagcccagcccgggc	9	3	16	13	3	0	2	0	0	0	2	0	4	0	2	5	4	4	0	5	4	2	1	rs751281575		C3N-00294_TP	C3N-00294_NB	G	G																c.2878G>T	p.Glu960Ter	p.E960*	ENST00000380320	8/8	166	138	28	108	108	0	strelka-varscan-mutect	EMILIN1,stop_gained,p.Glu960Ter,ENST00000380320,NM_007046.3;EMILIN1,stop_gained,p.Glu291Ter,ENST00000433140,;KHK,upstream_gene_variant,,ENST00000260599,NM_000221.2;KHK,upstream_gene_variant,,ENST00000260598,NM_006488.2;KHK,upstream_gene_variant,,ENST00000429697,;KHK,upstream_gene_variant,,ENST00000490823,;	T	ENST00000380320	Transcript	stop_gained	3377/3943	2878/3051	960/1016	E/*	Gag/Tag	rs751281575	1		1	EMILIN1	HGNC	HGNC:19880	protein_coding	YES	CCDS1733.1	ENSP00000369677		A0A0C4DFX3	UPI0000073B0E	NM_007046.3			8/8		PROSITE_profiles:PS50871,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF1,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842																	HIGH	1	SNV	1			1										PASS		rs751281575	.												T	4	4	46	27085842	27085842	G	T	1	0	0	0	0	0	1	0	0	4936	1059	37	1		1	EMILIN1	2	27085842	Nonsense_Mutation	SNP	G	C3N-00294_TP	293059	27085842	215107687	175	13677											
SLC5A6	0	.	GRCh38	chr2	27204847	27204847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctgcacctgagcctggttCaccccgtataaggagagcat	9	8	11	13	2	1	2	1	1	0	1	1	3	1	2	4	2	3	5	4	2	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.819G>A	p.=	p.V273V	ENST00000310574	8/17	257	228	29	250	250	0	strelka-varscan-mutect	SLC5A6,synonymous_variant,p.=,ENST00000310574,NM_021095.2;SLC5A6,synonymous_variant,p.=,ENST00000408041,;SLC5A6,downstream_gene_variant,,ENST00000412471,;SLC5A6,downstream_gene_variant,,ENST00000414408,;SLC5A6,downstream_gene_variant,,ENST00000401463,;SLC5A6,downstream_gene_variant,,ENST00000432106,;SLC5A6,downstream_gene_variant,,ENST00000426119,;SLC5A6,downstream_gene_variant,,ENST00000430186,;SLC5A6,downstream_gene_variant,,ENST00000428518,;SLC5A6,downstream_gene_variant,,ENST00000442731,;SLC5A6,upstream_gene_variant,,ENST00000461319,;SLC5A6,non_coding_transcript_exon_variant,,ENST00000488743,;SLC5A6,non_coding_transcript_exon_variant,,ENST00000476319,;SLC5A6,upstream_gene_variant,,ENST00000461757,;SLC5A6,downstream_gene_variant,,ENST00000445802,;SLC5A6,upstream_gene_variant,,ENST00000492069,;SLC5A6,downstream_gene_variant,,ENST00000464538,;SLC5A6,upstream_gene_variant,,ENST00000481751,;	T	ENST00000310574	Transcript	synonymous_variant	1293/3231	819/1908	273/635	V	gtG/gtA		1		-1	SLC5A6	HGNC	HGNC:11041	protein_coding	YES	CCDS1740.1	ENSP00000310208	Q9Y289		UPI000006DE33	NM_021095.2			8/17		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF140,TIGRFAM_domain:TIGR00813,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	27204847	27204847	C	T	1	0	0	0	0	0	0	0	1	14952	813	29	3		3	SLC5A6	2	27204847	Silent	SNP	C	C3N-00294_TP	119005	27204847	214988682	176	13678											
SLC30A3	0	.	GRCh38	chr2	27257176	27257176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaagtagatgaggatggagGcagccagtaccccaaagctc	13	6	13	9	0	0	3	0	2	0	1	1	5	0	5	3	3	3	4	3	3	4	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.755C>A	p.Ala252Asp	p.A252D	ENST00000233535	5/8	388	217	171	385	385	0	strelka-varscan-mutect	SLC30A3,missense_variant,p.Ala252Asp,ENST00000233535,NM_003459.4;SLC30A3,missense_variant,p.Pro190Thr,ENST00000445870,;SLC30A3,missense_variant,p.Ala203Asp,ENST00000432351,;SLC30A3,downstream_gene_variant,,ENST00000426924,;SLC30A3,downstream_gene_variant,,ENST00000424577,;SLC30A3,downstream_gene_variant,,ENST00000426569,;SLC30A3,downstream_gene_variant,,ENST00000450118,;SLC30A3,non_coding_transcript_exon_variant,,ENST00000497341,;SLC30A3,non_coding_transcript_exon_variant,,ENST00000482990,;SLC30A3,downstream_gene_variant,,ENST00000486309,;	T	ENST00000233535	Transcript	missense_variant	1108/2260	755/1167	252/388	A/D	gCc/gAc		1		-1	SLC30A3	HGNC	HGNC:11014	protein_coding	YES	CCDS1743.1	ENSP00000233535	Q99726		UPI000006D0B4	NM_003459.4	deleterious(0)		5/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF30,TIGRFAM_domain:TIGR01297,Gene3D:3h90A01,Pfam_domain:PF01545,Superfamily_domains:0054606																	MODERATE	1	SNV	1			1										PASS		rs1363688014	.												T	3	4	46	27257176	27257176	G	T	1	0	0	0	0	1	0	0	0	14826	1203	42	2		2	SLC30A3	2	27257176	Missense_Mutation	SNP	G	C3N-00294_TP	52329	27257176	214936353	177	13679											
GTF3C2	0	.	GRCh38	chr2	27336421	27336421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatgtgctgtgatcgagcTaaatctagagaaaaatcaaa	16	10	10	5	1	2	2	1	1	1	1	3	5	2	3	0	1	2	2	0	1	6	2	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.1132A>G	p.Ser378Gly	p.S378G	ENST00000359541	8/19	153	128	25	94	94	0	strelka-varscan-mutect	GTF3C2,missense_variant,p.Ser378Gly,ENST00000359541,NM_001318909.1;GTF3C2,missense_variant,p.Ser378Gly,ENST00000264720,NM_001521.3,NM_001035521.2;GTF3C2,missense_variant,p.Ser378Gly,ENST00000622534,;GTF3C2,upstream_gene_variant,,ENST00000454704,;GTF3C2-AS1,non_coding_transcript_exon_variant,,ENST00000416453,;GTF3C2-AS1,non_coding_transcript_exon_variant,,ENST00000585326,;GTF3C2-AS1,non_coding_transcript_exon_variant,,ENST00000592265,;GTF3C2-AS1,non_coding_transcript_exon_variant,,ENST00000608473,;GTF3C2-AS1,upstream_gene_variant,,ENST00000625728,;GTF3C2-AS1,upstream_gene_variant,,ENST00000626256,;GTF3C2-AS1,upstream_gene_variant,,ENST00000590383,;GTF3C2-AS1,upstream_gene_variant,,ENST00000588707,;GTF3C2-AS1,upstream_gene_variant,,ENST00000589853,;GTF3C2-AS1,upstream_gene_variant,,ENST00000587586,;GTF3C2-AS1,upstream_gene_variant,,ENST00000590754,;GTF3C2-AS1,upstream_gene_variant,,ENST00000585645,;GTF3C2-AS1,upstream_gene_variant,,ENST00000589232,;GTF3C2,non_coding_transcript_exon_variant,,ENST00000493511,;GTF3C2,non_coding_transcript_exon_variant,,ENST00000470115,;GTF3C2,non_coding_transcript_exon_variant,,ENST00000480989,;	C	ENST00000359541	Transcript	missense_variant	1562/3992	1132/2736	378/911	S/G	Agc/Ggc		1		-1	GTF3C2	HGNC	HGNC:4665	protein_coding	YES	CCDS1749.1	ENSP00000352536	Q8WUA4		UPI0000074025	NM_001318909.1	tolerated(0.18)		8/19		hmmpanther:PTHR15052,hmmpanther:PTHR15052:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	27336421	27336421	T	C	1	0	0	0	0	1	0	0	0	6754	1536	53	5		5	GTF3C2	2	27336421	Missense_Mutation	SNP	T	C3N-00294_TP	79245	27336421	214857108	178	13680											
SLC4A1AP	0	.	GRCh38	chr2	27663911	27663911	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttcgaagttgcaccggttGaggatggctgacattctctc	8	13	11	9	2	1	2	0	2	1	0	4	4	1	3	1	3	1	4	1	3	1	4	rs138567441		C3N-00294_TP	C3N-00294_NB	G	G																c.159G>A	p.=	p.L53L	ENST00000613058	1/14	637	520	117	576	576	0	strelka-varscan-mutect	SLC4A1AP,synonymous_variant,p.=,ENST00000613058,NM_018158.2;SLC4A1AP,synonymous_variant,p.=,ENST00000326019,;SLC4A1AP,5_prime_UTR_variant,,ENST00000618046,;SUPT7L,upstream_gene_variant,,ENST00000337768,NM_014860.2,NM_001282729.1;SUPT7L,upstream_gene_variant,,ENST00000404798,NM_001282732.1;SUPT7L,upstream_gene_variant,,ENST00000406540,;SUPT7L,upstream_gene_variant,,ENST00000464789,;SUPT7L,upstream_gene_variant,,ENST00000405491,NM_001282731.1,NM_001282730.1;SLC4A1AP,upstream_gene_variant,,ENST00000613517,;SLC4A1AP,upstream_gene_variant,,ENST00000427424,;	A	ENST00000613058	Transcript	synonymous_variant	441/2966	159/2391	53/796	L	ttG/ttA	rs138567441	1		1	SLC4A1AP	HGNC	HGNC:13813	protein_coding	YES	CCDS33166.1	ENSP00000479964	Q9BWU0		UPI000006F66B	NM_018158.2			1/14		hmmpanther:PTHR23308:SF2,hmmpanther:PTHR23308																	LOW	1	SNV	1			1										PASS		rs138567441	.												A	2	1	46	27663911	27663911	G	A	1	0	0	0	0	0	0	0	1	14930	1281	45	3		3	SLC4A1AP	2	27663911	Silent	SNP	G	C3N-00294_TP	327490	27663911	214529618	179	13681											
MEMO1	0	.	GRCh38	chr2	32010189	32010189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcggcctggggccctacctGaggctgtgtaccagctcccg	4	7	15	15	2	0	1	0	1	0	0	1	1	1	1	5	5	3	3	5	5	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.59C>T	p.Ser20Leu	p.S20L	ENST00000295065	1/9	171	143	28	160	160	0	strelka-varscan-mutect	MEMO1,missense_variant,p.Ser20Leu,ENST00000295065,NM_015955.3;MEMO1,missense_variant,p.Ser20Leu,ENST00000404530,NM_001301833.1;MEMO1,missense_variant,p.Ser20Leu,ENST00000426310,NM_001137602.2;MEMO1,missense_variant,p.Ser20Leu,ENST00000407893,;MEMO1,missense_variant,p.Ser20Leu,ENST00000437854,;CTC-336P14.1,upstream_gene_variant,,ENST00000605811,;MEMO1,splice_region_variant,,ENST00000413686,;DPY30,intron_variant,,ENST00000446765,;MEMO1,intron_variant,,ENST00000490459,;DPY30,downstream_gene_variant,,ENST00000452582,;DPY30,downstream_gene_variant,,ENST00000414013,;	A	ENST00000295065	Transcript	missense_variant,splice_region_variant	369/4505	59/894	20/297	S/L	tCa/tTa		1		-1	MEMO1	HGNC	HGNC:14014	protein_coding	YES	CCDS1776.1	ENSP00000295065	Q9Y316		UPI0000001C55	NM_015955.3	tolerated(0.11)		1/9		HAMAP:MF_00055,Pfam_domain:PF01875,hmmpanther:PTHR11060,hmmpanther:PTHR11060:SF0,TIGRFAM_domain:TIGR04336																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	32010189	32010189	G	A	1	0	0	0	0	1	0	0	0	9416	1304	45	3		3	MEMO1	2	32010189	Missense_Mutation	SNP	G	C3N-00294_TP	4346278	32010189	210183340	180	13682											
BIRC6	0	.	GRCh38	chr2	32499882	32499882	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttagtgcagctgcctctttCaggcaatagggaatacagtg	10	12	11	8	0	2	0	1	0	1	0	2	1	2	1	1	2	4	3	1	2	5	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.8804C>G	p.Ser2935Ter	p.S2935*	ENST00000421745	46/74	247	206	41	246	246	0	strelka-varscan-mutect	BIRC6,stop_gained,p.Ser2935Ter,ENST00000421745,NM_016252.3;BIRC6,upstream_gene_variant,,ENST00000497023,;	G	ENST00000421745	Transcript	stop_gained	8938/15703	8804/14574	2935/4857	S/*	tCa/tGa		1		1	BIRC6	HGNC	HGNC:13516	protein_coding	YES	CCDS33175.2	ENSP00000393596	Q9NR09		UPI000159689D	NM_016252.3			46/74		hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF123																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	46	32499882	32499882	C	G	1	0	0	0	0	0	1	0	0	1589	838	29	4		4	BIRC6	2	32499882	Nonsense_Mutation	SNP	C	C3N-00294_TP	489693	32499882	209693647	181	13683											
BIRC6	0	.	GRCh38	chr2	32529798	32529798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctatcaaaaacagattCttataaaagactacaccctg	17	10	4	10	0	3	2	1	0	2	2	3	2	3	2	1	0	2	0	1	0	7	5			C3N-00294_TP	C3N-00294_NB	C	C																c.12068C>A	p.Ser4023Tyr	p.S4023Y	ENST00000421745	60/74	90	77	13	92	92	0	strelka-varscan-mutect	BIRC6,missense_variant,p.Ser4023Tyr,ENST00000421745,NM_016252.3;MIR558,upstream_gene_variant,,ENST00000384920,;AL133243.2,downstream_gene_variant,,ENST00000617415,;BIRC6,non_coding_transcript_exon_variant,,ENST00000471232,;	A	ENST00000421745	Transcript	missense_variant	12202/15703	12068/14574	4023/4857	S/Y	tCt/tAt	COSM1407842,COSM1407843	1		1	BIRC6	HGNC	HGNC:13516	protein_coding	YES	CCDS33175.2	ENSP00000393596	Q9NR09		UPI000159689D	NM_016252.3	deleterious(0)		60/74													1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	46	32529798	32529798	C	A	1	0	0	0	0	1	0	0	0	1589	913	32	2		2	BIRC6	2	32529798	Missense_Mutation	SNP	C	C3N-00294_TP	29916	32529798	209663731	182	13684											
LTBP1	0	.	GRCh38	chr2	32947801	32947801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctaggctgcaggttcaccaGaagcagcagctgcaggggta	10	7	14	10	0	2	1	1	0	1	1	2	1	2	1	1	4	5	8	1	4	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.477G>A	p.=	p.Q159Q	ENST00000404816	1/34	51	42	9	53	53	0	strelka-varscan-mutect	LTBP1,synonymous_variant,p.=,ENST00000404816,NM_206943.2;Y_RNA,upstream_gene_variant,,ENST00000384224,;	A	ENST00000404816	Transcript	synonymous_variant	830/6333	477/5166	159/1721	Q	caG/caA		1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2			1/34		hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF39																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	46	32947801	32947801	G	A	1	0	0	0	0	0	0	0	1	8979	933	33	3		3	LTBP1	2	32947801	Silent	SNP	G	C3N-00294_TP	418003	32947801	209245728	183	13685											
DHX57	0	.	GRCh38	chr2	38848396	38848396	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttcaaaactagcagcaaGaagtcactagagaaaataaa	20	7	6	8	0	2	2	2	0	0	2	3	3	3	2	1	0	3	2	1	0	10	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2037C>T	p.=	p.F679F	ENST00000457308	10/24	94	84	10	106	106	0	strelka-varscan-mutect	DHX57,synonymous_variant,p.=,ENST00000457308,NM_198963.1;DHX57,synonymous_variant,p.=,ENST00000452978,;DHX57,3_prime_UTR_variant,,ENST00000620517,;DHX57,non_coding_transcript_exon_variant,,ENST00000622155,;DHX57,downstream_gene_variant,,ENST00000474104,;	A	ENST00000457308	Transcript	synonymous_variant	2165/4859	2037/4161	679/1386	F	ttC/ttT		1		-1	DHX57	HGNC	HGNC:20086	protein_coding	YES	CCDS1800.1	ENSP00000405111	Q6P158		UPI0000231C8C	NM_198963.1			10/24		Gene3D:3.40.50.300,Pfam_domain:PF00270,PROSITE_profiles:PS51192,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF145,SMART_domains:SM00487,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs779227902	.												A	2	1	46	38848396	38848396	G	A	1	0	0	0	0	0	0	0	1	4317	933	33	3		3	DHX57	2	38848396	Silent	SNP	G	C3N-00294_TP	5900595	38848396	203345133	184	13686											
EML4	0	.	GRCh38	chr2	42329971	42329971	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccacaccgcctccttctCagcccttaaatgagacagct	9	9	5	18	1	1	1	1	1	1	1	4	2	3	1	5	0	2	1	5	0	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2710C>T	p.Gln904Ter	p.Q904*	ENST00000318522	23/23	374	298	76	278	277	1	strelka-varscan-mutect	EML4,stop_gained,p.Gln904Ter,ENST00000318522,NM_019063.4;EML4,stop_gained,p.Gln915Ter,ENST00000401738,;EML4,stop_gained,p.Gln846Ter,ENST00000402711,NM_001145076.2;COX7A2L,downstream_gene_variant,,ENST00000468711,;EML4,non_coding_transcript_exon_variant,,ENST00000406175,;	T	ENST00000318522	Transcript	stop_gained	2972/5549	2710/2946	904/981	Q/*	Cag/Tag		1		1	EML4	HGNC	HGNC:1316	protein_coding	YES	CCDS1807.1	ENSP00000320663	Q9HC35		UPI0000140350	NM_019063.4			23/23		Low_complexity_(Seg):seg,hmmpanther:PTHR13720:SF11,hmmpanther:PTHR13720																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	46	42329971	42329971	C	T	1	0	0	0	0	0	1	0	0	4942	827	29	3		3	EML4	2	42329971	Nonsense_Mutation	SNP	C	C3N-00294_TP	3481575	42329971	199863558	185	13687											
RHOQ	0	.	GRCh38	chr2	46580978	46580978	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttaacccagaagggattGaagactgtttttgatgaggc	11	12	12	6	0	0	5	0	3	0	2	0	6	0	6	1	2	1	2	1	2	3	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.513G>A	p.=	p.L171L	ENST00000238738	5/5	39	32	7	49	49	0	strelka-varscan-mutect	RHOQ,synonymous_variant,p.=,ENST00000238738,NM_012249.3;PIGF,3_prime_UTR_variant,,ENST00000281382,NM_002643.3;PIGF,downstream_gene_variant,,ENST00000306465,NM_173074.2;RHOQ,downstream_gene_variant,,ENST00000482449,;RP11-417F21.1,upstream_gene_variant,,ENST00000506009,;PIGF,downstream_gene_variant,,ENST00000482786,;RHOQ,downstream_gene_variant,,ENST00000465198,;RHOQ,3_prime_UTR_variant,,ENST00000489471,;RHOQ,3_prime_UTR_variant,,ENST00000473428,;RHOQ,non_coding_transcript_exon_variant,,ENST00000489448,;PIGF,downstream_gene_variant,,ENST00000412717,;RHOQ,downstream_gene_variant,,ENST00000432183,;RHOQ,downstream_gene_variant,,ENST00000494370,;PIGF,downstream_gene_variant,,ENST00000420164,;	A	ENST00000238738	Transcript	synonymous_variant	832/2975	513/618	171/205	L	ttG/ttA		1		1	RHOQ	HGNC	HGNC:17736	protein_coding	YES	CCDS33191.1	ENSP00000238738	P17081	V9HWD0	UPI0000073EEC	NM_012249.3			5/5		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF13,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	46580978	46580978	G	A	1	0	0	0	0	0	0	0	1	13515	1281	45	3		3	RHOQ	2	46580978	Silent	SNP	G	C3N-00294_TP	4251007	46580978	195612551	186	13688											
KCNK12	0	.	GRCh38	chr2	47570139	47570139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcgcccgcgcctccgcctCgccggggctctcgagcgccg	1	4	15	21	10	1	0	0	0	1	0	4	1	2	0	6	2	1	1	6	2	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.193G>A	p.Glu65Lys	p.E65K	ENST00000327876	1/2	182	142	40	147	147	0	strelka-varscan-mutect	KCNK12,missense_variant,p.Glu65Lys,ENST00000327876,NM_022055.1;KCNK12,non_coding_transcript_exon_variant,,ENST00000493527,;	T	ENST00000327876	Transcript	missense_variant	801/6227	193/1293	65/430	E/K	Gag/Aag		1		-1	KCNK12	HGNC	HGNC:6274	protein_coding	YES	CCDS1835.1	ENSP00000327611	Q9HB15		UPI000000DC4C	NM_022055.1	deleterious(0)		1/2		hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF11,Gene3D:1.10.287.70,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	47570139	47570139	C	T	1	0	0	0	0	1	0	0	0	7977	893	31	1		1	KCNK12	2	47570139	Missense_Mutation	SNP	C	C3N-00294_TP	989161	47570139	194623390	187	13689											
FBXO11	0	.	GRCh38	chr2	47838884	47838884	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattggatcattagcaagttCactgaagcgtttacatacac	14	12	7	8	1	2	1	2	1	0	0	2	2	2	2	0	1	4	3	0	1	6	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.562G>T	p.Glu188Ter	p.E188*	ENST00000403359	4/23	179	138	41	175	175	0	strelka-varscan-mutect	FBXO11,stop_gained,p.Glu188Ter,ENST00000403359,NM_001190274.1;FBXO11,stop_gained,p.Glu104Ter,ENST00000402508,NM_025133.4;FBXO11,stop_gained,p.Glu104Ter,ENST00000424163,;FBXO11,upstream_gene_variant,,ENST00000493962,;FBXO11,non_coding_transcript_exon_variant,,ENST00000480038,;FBXO11,non_coding_transcript_exon_variant,,ENST00000492225,;	A	ENST00000403359	Transcript	stop_gained	635/4055	562/2784	188/927	E/*	Gaa/Taa		1		-1	FBXO11	HGNC	HGNC:13590	protein_coding	YES	CCDS54357.1	ENSP00000384823	Q86XK2		UPI00005793B7	NM_001190274.1			4/23		Gene3D:1.20.1280.50,Pfam_domain:PF12937,PROSITE_profiles:PS50181,hmmpanther:PTHR22990,hmmpanther:PTHR22990:SF20,SMART_domains:SM00256,Superfamily_domains:SSF81383																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	46	47838884	47838884	C	A	1	0	0	0	0	0	1	0	0	5590	835	29	2		2	FBXO11	2	47838884	Nonsense_Mutation	SNP	C	C3N-00294_TP	268745	47838884	194354645	188	13690											
NRXN1	0	.	GRCh38	chr2	50496028	50496028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgccactgattgtcattgaGaggtttatttgagcttcctt	7	17	10	7	0	1	3	1	3	0	1	2	4	2	3	2	1	2	2	2	1	1	7			C3N-00294_TP	C3N-00294_NB	G	G																c.3067C>T	p.Leu1023Phe	p.L1023F	ENST00000404971	16/24	157	148	9	131	131	0	strelka-varscan-mutect	NRXN1,missense_variant,p.Leu983Phe,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Leu975Phe,ENST00000625672,;NRXN1,missense_variant,p.Leu1023Phe,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Leu983Phe,ENST00000401669,;NRXN1,missense_variant,p.Leu971Phe,ENST00000405472,;NRXN1,missense_variant,p.Leu975Phe,ENST00000630543,;NRXN1,missense_variant,p.Leu713Phe,ENST00000406859,;NRXN1,missense_variant,p.Leu698Phe,ENST00000402717,;NRXN1,missense_variant,p.Leu17Phe,ENST00000625320,;NRXN1,downstream_gene_variant,,ENST00000495871,;NRXN1,non_coding_transcript_exon_variant,,ENST00000636298,;NRXN1,non_coding_transcript_exon_variant,,ENST00000637889,;NRXN1,missense_variant,p.Leu701Phe,ENST00000331040,;NRXN1,downstream_gene_variant,,ENST00000474354,;NRXN1,downstream_gene_variant,,ENST00000462791,;NRXN1,upstream_gene_variant,,ENST00000626192,;	A	ENST00000404971	Transcript	missense_variant	4407/7578	3067/4644	1023/1547	L/F	Ctc/Ttc	COSM283378,COSM283379,COSM4974088,COSM4974089,COSM4974090,COSM4974091	1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	deleterious(0)		16/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899											1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1	1										PASS		.	.												A	3	1	46	50496028	50496028	G	A	1	0	0	0	0	1	0	0	0	10724	942	33	3		3	NRXN1	2	50496028	Missense_Mutation	SNP	G	C3N-00294_TP	2657144	50496028	191697501	189	13691											
PSME4	0	.	GRCh38	chr2	53920242	53920242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctggagtttgacgagctCaggctgaagaaaggagtcca	12	8	14	7	1	1	3	1	2	0	1	2	6	2	5	1	3	2	4	1	3	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2371G>A	p.Glu791Lys	p.E791K	ENST00000404125	19/47	132	110	22	122	122	0	strelka-mutect	PSME4,missense_variant,p.Glu791Lys,ENST00000404125,NM_014614.2;PSME4,3_prime_UTR_variant,,ENST00000389993,;	T	ENST00000404125	Transcript	missense_variant	2427/7099	2371/5532	791/1843	E/K	Gag/Aag		1		-1	PSME4	HGNC	HGNC:20635	protein_coding	YES	CCDS33197.2	ENSP00000384211	Q14997		UPI0000F3BE4A	NM_014614.2	deleterious(0.01)		19/47		Pfam_domain:PF16507,hmmpanther:PTHR32170,hmmpanther:PTHR32170:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	53920242	53920242	C	T	1	0	0	0	0	1	0	0	0	12860	835	29	3		3	PSME4	2	53920242	Missense_Mutation	SNP	C	C3N-00294_TP	3424214	53920242	188273287	190	13692											
SPTBN1	0	.	GRCh38	chr2	54629397	54629397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttccaggcagatgctgatGacattgatgcctggatgctg	9	11	13	8	0	0	4	0	3	0	1	1	5	1	5	2	2	3	4	2	2	0	2			C3N-00294_TP	C3N-00294_NB	G	G																c.2263G>A	p.Asp755Asn	p.D755N	ENST00000356805	14/36	352	299	53	302	302	0	strelka-varscan-mutect	SPTBN1,missense_variant,p.Asp755Asn,ENST00000615901,;SPTBN1,missense_variant,p.Asp742Asn,ENST00000333896,NM_178313.2;SPTBN1,missense_variant,p.Asp755Asn,ENST00000356805,NM_003128.2;SPTBN1,downstream_gene_variant,,ENST00000389980,;	A	ENST00000356805	Transcript	missense_variant	2544/8482	2263/7095	755/2364	D/N	Gac/Aac	COSM1021666,COSM1021667	1		1	SPTBN1	HGNC	HGNC:11275	protein_coding	YES	CCDS33198.1	ENSP00000349259	Q01082	B2ZZ89	UPI0000DBEE4B	NM_003128.2	deleterious(0)		14/36		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF325,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	46	54629397	54629397	G	A	1	0	0	0	0	1	0	0	0	15475	1290	45	3		3	SPTBN1	2	54629397	Missense_Mutation	SNP	G	C3N-00294_TP	709155	54629397	187564132	191	13693											
SPTBN1	0	.	GRCh38	chr2	54629411	54629411	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctgatgacattgatgcctgGatgctggacatcctcaagat	10	11	11	9	0	1	4	1	3	0	1	2	6	2	6	2	2	2	2	2	2	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2277G>C	p.Trp759Cys	p.W759C	ENST00000356805	14/36	383	324	59	306	306	0	strelka-varscan-mutect	SPTBN1,missense_variant,p.Trp759Cys,ENST00000615901,;SPTBN1,missense_variant,p.Trp746Cys,ENST00000333896,NM_178313.2;SPTBN1,missense_variant,p.Trp759Cys,ENST00000356805,NM_003128.2;SPTBN1,downstream_gene_variant,,ENST00000389980,;	C	ENST00000356805	Transcript	missense_variant	2558/8482	2277/7095	759/2364	W/C	tgG/tgC		1		1	SPTBN1	HGNC	HGNC:11275	protein_coding	YES	CCDS33198.1	ENSP00000349259	Q01082	B2ZZ89	UPI0000DBEE4B	NM_003128.2	deleterious(0)		14/36		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF325,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	54629411	54629411	G	C	1	0	0	0	0	1	0	0	0	15475	1183	41	4		4	SPTBN1	2	54629411	Missense_Mutation	SNP	G	C3N-00294_TP	14	54629411	187564118	192	13694											
PPP4R3B	0	.	GRCh38	chr2	55588902	55588902	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcacgccgtttatcatcatCtgtagcctcatctgttaatt	8	17	5	11	2	6	0	4	0	2	0	6	0	6	0	2	0	1	3	2	0	3	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.976G>C	p.Asp326His	p.D326H	ENST00000616407	5/17	72	59	13	130	130	0	strelka-varscan-mutect	PPP4R3B,missense_variant,p.Asp326His,ENST00000611717,NM_020463.3;PPP4R3B,missense_variant,p.Asp326His,ENST00000616407,NM_001122964.2;PPP4R3B,missense_variant,p.Asp326His,ENST00000616288,NM_001282850.1;	G	ENST00000616407	Transcript	missense_variant	1279/4385	976/2550	326/849	D/H	Gat/Cat		1		-1	PPP4R3B	HGNC	HGNC:29267	protein_coding	YES	CCDS46289.1	ENSP00000483228	Q5MIZ7		UPI00001C1DBA	NM_001122964.2	tolerated(0.08)		5/17		hmmpanther:PTHR23318:SF2,hmmpanther:PTHR23318,Pfam_domain:PF04802,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs1268369102	.												G	3	3	46	55588902	55588902	C	G	1	0	0	0	0	1	0	0	0	12528	913	32	4		4	PPP4R3B	2	55588902	Missense_Mutation	SNP	C	C3N-00294_TP	959491	55588902	186604627	193	13695											
USP34	0	.	GRCh38	chr2	61246422	61246422	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtgaacagtcactcctatCaagtcatattcatagctctc	11	13	6	11	0	5	1	4	1	1	0	7	1	6	1	1	0	2	1	1	0	5	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.6450G>C	p.Leu2150Phe	p.L2150F	ENST00000398571	50/80	141	123	18	167	167	0	strelka-varscan-mutect	USP34,missense_variant,p.Leu2150Phe,ENST00000398571,NM_014709.3;USP34,missense_variant,p.Leu428Phe,ENST00000453734,;USP34,upstream_gene_variant,,ENST00000411912,;USP34,intron_variant,,ENST00000472706,;USP34,non_coding_transcript_exon_variant,,ENST00000463046,;RP11-479F13.1,upstream_gene_variant,,ENST00000605372,;	G	ENST00000398571	Transcript	missense_variant	6527/11357	6450/10641	2150/3546	L/F	ttG/ttC		1		-1	USP34	HGNC	HGNC:20066	protein_coding	YES	CCDS42686.1	ENSP00000381577	Q70CQ2		UPI0000410E09	NM_014709.3	deleterious(0)		50/80		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF97,PROSITE_patterns:PS00973,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	46	61246422	61246422	C	G	1	0	0	0	0	1	0	0	0	17607	825	29	4		4	USP34	2	61246422	Missense_Mutation	SNP	C	C3N-00294_TP	5657520	61246422	180947107	194	13696											
USP34	0	.	GRCh38	chr2	61395226	61395226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatgttactttcttgagttGatatatcctaattaaaaaaa	16	17	4	4	0	1	2	0	2	1	0	2	2	2	2	1	0	1	2	1	0	9	9			C3N-00294_TP	C3N-00294_NB	G	G																c.560C>T	p.Ser187Leu	p.S187L	ENST00000398571	4/80	49	42	7	74	74	0	strelka-varscan-mutect	USP34,missense_variant,p.Ser187Leu,ENST00000398571,NM_014709.3;USP34,intron_variant,,ENST00000453133,;	A	ENST00000398571	Transcript	missense_variant	637/11357	560/10641	187/3546	S/L	tCa/tTa	COSM3799098	1		-1	USP34	HGNC	HGNC:20066	protein_coding	YES	CCDS42686.1	ENSP00000381577	Q70CQ2		UPI0000410E09	NM_014709.3	deleterious(0)		4/80													1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	46	61395226	61395226	G	A	1	0	0	0	0	1	0	0	0	17607	1294	45	3		3	USP34	2	61395226	Missense_Mutation	SNP	G	C3N-00294_TP	148804	61395226	180798303	195	13697											
XPO1	0	.	GRCh38	chr2	61492458	61492458	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattatctttgcctcttttCtgttcacataatcctaatag	9	20	3	9	0	4	0	1	0	3	0	5	0	5	0	2	0	1	1	2	0	5	9	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1590G>C	p.Gln530His	p.Q530H	ENST00000401558	15/25	42	35	7	69	69	0	strelka-mutect	XPO1,missense_variant,p.Gln530His,ENST00000401558,NM_003400.3;XPO1,missense_variant,p.Gln530His,ENST00000404992,;XPO1,missense_variant,p.Gln530His,ENST00000406957,;XPO1,upstream_gene_variant,,ENST00000494468,;XPO1,3_prime_UTR_variant,,ENST00000428210,;XPO1,non_coding_transcript_exon_variant,,ENST00000481073,;XPO1,non_coding_transcript_exon_variant,,ENST00000469337,;XPO1,upstream_gene_variant,,ENST00000461407,;XPO1,downstream_gene_variant,,ENST00000460037,;XPO1,downstream_gene_variant,,ENST00000437159,;XPO1,downstream_gene_variant,,ENST00000475744,;	G	ENST00000401558	Transcript	missense_variant	2318/4915	1590/3216	530/1071	Q/H	caG/caC		1		-1	XPO1	HGNC	HGNC:12825	protein_coding	YES	CCDS33205.1	ENSP00000384863	O14980		UPI0000001C23	NM_003400.3	tolerated(0.16)		15/25		hmmpanther:PTHR11223,hmmpanther:PTHR11223:SF4,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	61492458	61492458	C	G	1	0	0	0	0	1	0	0	0	18004	912	32	4		4	XPO1	2	61492458	Missense_Mutation	SNP	C	C3N-00294_TP	97232	61492458	180701071	196	13698											
FAM161A	0	.	GRCh38	chr2	61854018	61854018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agactggaggccaccagcttCgccactcggtgggaggtggc	7	6	16	12	2	0	1	0	0	0	1	2	3	0	3	3	6	1	1	3	6	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.24G>A	p.=	p.A8A	ENST00000404929	1/7	335	267	68	302	302	0	strelka-varscan-mutect	FAM161A,synonymous_variant,p.=,ENST00000404929,NM_001201543.1;FAM161A,synonymous_variant,p.=,ENST00000405894,NM_032180.2;FAM161A,synonymous_variant,p.=,ENST00000418113,;FAM161A,synonymous_variant,p.=,ENST00000456262,;FAM161A,synonymous_variant,p.=,ENST00000307507,;RP11-681L4.2,upstream_gene_variant,,ENST00000612715,;RP11-681L4.1,upstream_gene_variant,,ENST00000414975,;	T	ENST00000404929	Transcript	synonymous_variant	36/3762	24/2151	8/716	A	gcG/gcA		1		-1	FAM161A	HGNC	HGNC:25808	protein_coding	YES	CCDS56120.1	ENSP00000385158	Q3B820		UPI00006C0438	NM_001201543.1			1/7		hmmpanther:PTHR21501,hmmpanther:PTHR21501:SF3																	LOW	1	SNV	1			1										PASS		rs1435732952	.												T	2	4	46	61854018	61854018	C	T	1	0	0	0	0	0	0	0	1	5321	871	31	1		1	FAM161A	2	61854018	Silent	SNP	C	C3N-00294_TP	361560	61854018	180339511	197	13699											
ARHGAP25	0	.	GRCh38	chr2	68807439	68807439	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaacctggtgaagcagctGagagacgcttttgatgctgg	10	9	14	8	1	0	4	0	3	0	1	0	6	0	4	1	2	4	4	1	2	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.633G>T	p.=	p.L211L	ENST00000409202	5/11	246	196	50	250	250	0	strelka-varscan-mutect	ARHGAP25,synonymous_variant,p.=,ENST00000409202,NM_001007231.2;ARHGAP25,synonymous_variant,p.=,ENST00000409220,NM_001166276.1;ARHGAP25,synonymous_variant,p.=,ENST00000409030,NM_014882.2;ARHGAP25,synonymous_variant,p.=,ENST00000467265,NM_001166277.1;ARHGAP25,synonymous_variant,p.=,ENST00000497259,;ARHGAP25,synonymous_variant,p.=,ENST00000497079,;ARHGAP25,non_coding_transcript_exon_variant,,ENST00000456116,;ARHGAP25,non_coding_transcript_exon_variant,,ENST00000485700,;ARHGAP25,synonymous_variant,p.=,ENST00000463483,;ARHGAP25,3_prime_UTR_variant,,ENST00000473986,;ARHGAP25,3_prime_UTR_variant,,ENST00000488795,;	T	ENST00000409202	Transcript	synonymous_variant	998/2945	633/1941	211/646	L	ctG/ctT		1		1	ARHGAP25	HGNC	HGNC:28951	protein_coding	YES	CCDS33214.2	ENSP00000386911	P42331		UPI0000251EDD	NM_001007231.2			5/11		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF20,SMART_domains:SM00324,Superfamily_domains:SSF48350																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	46	68807439	68807439	G	T	1	0	0	0	0	0	0	0	1	999	1277	45	2		2	ARHGAP25	2	68807439	Silent	SNP	G	C3N-00294_TP	6953421	68807439	173386090	198	13700											
MXD1	0	.	GRCh38	chr2	69937303	69937303	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcgagagcagcgacacctGaagaggcagctggagaagct	13	3	15	10	2	0	4	0	1	0	3	0	7	0	4	1	2	5	4	1	2	2	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.387G>A	p.=	p.L129L	ENST00000264444	5/6	187	163	24	175	175	0	strelka-varscan-mutect	MXD1,synonymous_variant,p.=,ENST00000264444,NM_001202513.1,NM_002357.3;MXD1,synonymous_variant,p.=,ENST00000540449,NM_001202514.1;MXD1,synonymous_variant,p.=,ENST00000435990,;MXD1,upstream_gene_variant,,ENST00000465446,;MXD1,3_prime_UTR_variant,,ENST00000409442,;	A	ENST00000264444	Transcript	synonymous_variant	647/5587	387/666	129/221	L	ctG/ctA		1		1	MXD1	HGNC	HGNC:6761	protein_coding	YES	CCDS1896.1	ENSP00000264444	Q05195		UPI0000035C7D	NM_001202513.1,NM_002357.3			5/6		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11969,hmmpanther:PTHR11969:SF18,Gene3D:4.10.280.10,Superfamily_domains:SSF47459																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	69937303	69937303	G	A	1	0	0	0	0	0	0	0	1	9998	1277	45	3		3	MXD1	2	69937303	Silent	SNP	G	C3N-00294_TP	1129864	69937303	172256226	199	13701											
MXD1	0	.	GRCh38	chr2	69937331	69937331	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctggagaagctgggcattGagaggatccggatggacagc	11	6	17	7	1	0	2	0	1	0	2	1	7	1	5	1	5	3	3	1	5	1	1			C3N-00294_TP	C3N-00294_NB	G	G																c.415G>C	p.Glu139Gln	p.E139Q	ENST00000264444	5/6	182	160	22	162	162	0	strelka-varscan-mutect	MXD1,missense_variant,p.Glu139Gln,ENST00000264444,NM_001202513.1,NM_002357.3;MXD1,missense_variant,p.Glu129Gln,ENST00000540449,NM_001202514.1;MXD1,missense_variant,p.Glu107Gln,ENST00000435990,;MXD1,upstream_gene_variant,,ENST00000465446,;MXD1,3_prime_UTR_variant,,ENST00000409442,;	C	ENST00000264444	Transcript	missense_variant	675/5587	415/666	139/221	E/Q	Gag/Cag	COSM367242	1		1	MXD1	HGNC	HGNC:6761	protein_coding	YES	CCDS1896.1	ENSP00000264444	Q05195		UPI0000035C7D	NM_001202513.1,NM_002357.3	deleterious(0.02)		5/6		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11969,hmmpanther:PTHR11969:SF18											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	46	69937331	69937331	G	C	1	0	0	0	0	1	0	0	0	9998	1291	45	4		4	MXD1	2	69937331	Missense_Mutation	SNP	G	C3N-00294_TP	28	69937331	172256198	200	13702											
NOTO	0	.	GRCh38	chr2	73208414	73208414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttagggttggagctggctCactgctcaggactctgggcc	5	11	14	11	0	3	0	2	0	1	0	3	2	3	2	1	5	2	4	1	5	1	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.397C>T	p.His133Tyr	p.H133Y	ENST00000398468	2/3	211	162	49	157	157	0	strelka-varscan-mutect	NOTO,missense_variant,p.His133Tyr,ENST00000398468,NM_001134462.1;	T	ENST00000398468	Transcript	missense_variant	806/2749	397/756	133/251	H/Y	Cac/Tac		1		1	NOTO	HGNC	HGNC:31839	protein_coding	YES	CCDS46335.1	ENSP00000381486	A8MTQ0		UPI0000198CC1	NM_001134462.1	tolerated(0.17)		2/3		hmmpanther:PTHR24339,hmmpanther:PTHR24339:SF31																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	46	73208414	73208414	C	T	1	0	0	0	0	1	0	0	0	10597	826	29	3		3	NOTO	2	73208414	Missense_Mutation	SNP	C	C3N-00294_TP	3271083	73208414	168985115	201	13703											
CCDC142	0	.	GRCh38	chr2	74482264	74482264	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caggcccgggctggcgggctCccggccgagagcgcgaagct	5	3	18	15	6	0	1	0	0	0	1	1	3	1	1	3	5	2	3	3	5	1	0			C3N-00294_TP	C3N-00294_NB	C	C																c.574G>C	p.Glu192Gln	p.E192Q	ENST00000290418	1/9	283	238	45	281	280	1	strelka-varscan-mutect	CCDC142,missense_variant,p.Glu192Gln,ENST00000393965,;CCDC142,missense_variant,p.Glu192Gln,ENST00000290418,NM_032779.3;TTC31,upstream_gene_variant,,ENST00000410003,;TTC31,upstream_gene_variant,,ENST00000233623,NM_022492.4;TTC31,upstream_gene_variant,,ENST00000442235,;CCDC142,intron_variant,,ENST00000471713,;CCDC142,intron_variant,,ENST00000474681,;TTC31,upstream_gene_variant,,ENST00000463189,;CCDC142,missense_variant,p.Glu94Gln,ENST00000454193,;TTC31,upstream_gene_variant,,ENST00000489152,;TTC31,upstream_gene_variant,,ENST00000491252,;TTC31,upstream_gene_variant,,ENST00000424122,;TTC31,upstream_gene_variant,,ENST00000449459,;TTC31,upstream_gene_variant,,ENST00000464241,;TTC31,upstream_gene_variant,,ENST00000459957,;CCDC142,upstream_gene_variant,,ENST00000497232,;CCDC142,upstream_gene_variant,,ENST00000472962,;TTC31,upstream_gene_variant,,ENST00000463704,;	G	ENST00000290418	Transcript	missense_variant	733/2835	574/2232	192/743	E/Q	Gag/Cag	COSM1307005,COSM4811820	1		-1	CCDC142	HGNC	HGNC:25889	protein_coding	YES	CCDS1945.1	ENSP00000290418	Q17RM4		UPI000013CFB5	NM_032779.3	tolerated_low_confidence(0.06)		1/9		hmmpanther:PTHR21436											1,1						MODERATE		SNV	2		1,1	1										PASS		.	.												G	3	3	46	74482264	74482264	C	G	1	0	0	0	0	1	0	0	0	2464	864	30	4		4	CCDC142	2	74482264	Missense_Mutation	SNP	C	C3N-00294_TP	1273850	74482264	167711265	202	13704											
REG3A	0	.	GRCh38	chr2	79158355	79158355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggagcccaatccagaCgtatgagtagctgttaccaa	12	9	10	10	1	1	2	1	1	0	1	2	3	2	3	3	1	3	4	3	1	5	3	rs199992892		C3N-00294_TP	C3N-00294_NB	C	C																c.304G>A	p.Val102Ile	p.V102I	ENST00000393878	3/5	164	153	11	110	109	1	varscan-mutect	REG3A,missense_variant,p.Val102Ile,ENST00000393878,NM_138938.2;REG3A,missense_variant,p.Val102Ile,ENST00000409839,NM_002580.2,NM_138937.2;REG3A,missense_variant,p.Val102Ile,ENST00000305165,;AC011754.1,upstream_gene_variant,,ENST00000415201,;REG3A,downstream_gene_variant,,ENST00000464746,;REG3A,downstream_gene_variant,,ENST00000490901,;	T	ENST00000393878	Transcript	missense_variant	652/1095	304/528	102/175	V/I	Gtc/Atc	rs199992892	1		-1	REG3A	HGNC	HGNC:8601	protein_coding	YES	CCDS1965.1	ENSP00000377456	Q06141	Q53S56	UPI0000001C5B	NM_138938.2	tolerated(0.74)		3/5		PROSITE_profiles:PS50041,hmmpanther:PTHR22801:SF45,hmmpanther:PTHR22801,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504																	MODERATE	1	SNV	1			1										PASS		rs199992892	.												T	3	4	46	79158355	79158355	C	T	1	0	0	0	0	1	0	0	0	13382	536	19	1		1	REG3A	2	79158355	Missense_Mutation	SNP	C	C3N-00294_TP	4676091	79158355	163035174	203	13705											
CTNNA2	0	.	GRCh38	chr2	80546015	80546015	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtccgagtgttgacaGaggccgtggatgacatcacc	10	7	14	10	2	1	3	1	2	0	1	2	5	2	4	3	3	1	2	3	3	0	1			C3N-00294_TP	C3N-00294_NB	G	G																c.1492G>T	p.Glu498Ter	p.E498*	ENST00000402739	10/18	194	110	84	186	186	0	strelka-varscan-mutect	CTNNA2,stop_gained,p.Glu498Ter,ENST00000466387,;CTNNA2,stop_gained,p.Glu498Ter,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,stop_gained,p.Glu498Ter,ENST00000402739,NM_001282597.2;CTNNA2,stop_gained,p.Glu498Ter,ENST00000629316,NM_001164883.1;CTNNA2,stop_gained,p.Glu114Ter,ENST00000361291,NM_001320810.1;CTNNA2,stop_gained,p.Glu177Ter,ENST00000343114,NM_001282599.1;CTNNA2,stop_gained,p.Glu130Ter,ENST00000541047,NM_001282600.1;CTNNA2,stop_gained,p.Glu114Ter,ENST00000540488,;CTNNA2,stop_gained,p.Glu163Ter,ENST00000409550,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000465616,;CTNNA2,downstream_gene_variant,,ENST00000493024,;	T	ENST00000402739	Transcript	stop_gained	1497/3684	1492/2862	498/953	E/*	Gag/Tag	COSM370819	1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2			10/18		Gene3D:1.20.120.230,Pfam_domain:PF01044,Prints_domain:PR00805,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Superfamily_domains:SSF47220											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	46	80546015	80546015	G	T	1	0	0	0	0	0	1	0	0	3822	943	33	2		2	CTNNA2	2	80546015	Nonsense_Mutation	SNP	G	C3N-00294_TP	1387660	80546015	161647514	204	13706											
DNAH6	0	.	GRCh38	chr2	84701269	84701269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcggtactacacgacacCcacctcctacctggagctta	10	7	8	16	2	0	0	0	0	0	0	1	2	1	1	4	3	4	2	4	3	4	4			C3N-00294_TP	C3N-00294_NB	C	C																c.7991C>G	p.Pro2664Arg	p.P2664R	ENST00000389394	49/77	344	298	46	329	328	1	strelka-varscan-mutect	DNAH6,missense_variant,p.Pro2664Arg,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Pro2664Arg,ENST00000237449,;DNAH6,downstream_gene_variant,,ENST00000602588,;	G	ENST00000389394	Transcript	missense_variant	8128/12795	7991/12477	2664/4158	P/R	cCc/cGc	COSM3001322	1		1	DNAH6	HGNC	HGNC:2951	protein_coding	YES	CCDS46348.1	ENSP00000374045	Q9C0G6		UPI000163AC9D	NM_001370.1	deleterious(0)		49/77		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136,Pfam_domain:PF12780,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	5		1	1										PASS		.	.												G	3	3	46	84701269	84701269	C	G	1	0	0	0	0	1	0	0	0	4420	623	22	4		4	DNAH6	2	84701269	Missense_Mutation	SNP	C	C3N-00294_TP	4155254	84701269	157492260	205	13707											
TCF7L1	0	.	GRCh38	chr2	85309210	85309210	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagcccagcccctctccctCaccaccaaaccagaaacccg	12	3	4	22	1	2	1	1	0	1	1	3	1	2	1	8	0	4	0	8	0	3	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1515C>T	p.=	p.L505L	ENST00000282111	12/12	353	174	179	365	365	0	strelka-varscan-mutect	TCF7L1,synonymous_variant,p.=,ENST00000282111,NM_031283.2;TCF7L1,downstream_gene_variant,,ENST00000490744,;	T	ENST00000282111	Transcript	synonymous_variant	1790/2968	1515/1767	505/588	L	ctC/ctT		1		1	TCF7L1	HGNC	HGNC:11640	protein_coding	YES	CCDS1971.1	ENSP00000282111	Q9HCS4		UPI0000136846	NM_031283.2			12/12		hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF25																	LOW	1	SNV	1			1										PASS		rs1483697912	.												T	2	4	46	85309210	85309210	C	T	1	0	0	0	0	0	0	0	1	16104	813	29	3		3	TCF7L1	2	85309210	Silent	SNP	C	C3N-00294_TP	607941	85309210	156884319	206	13708											
POLR1A	0	.	GRCh38	chr2	86040474	86040474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgggtggagggctctcCgatgctctgggcagccagca	6	8	15	12	1	3	0	0	0	3	0	4	2	3	1	2	4	3	4	2	4	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3658G>A	p.Gly1220Arg	p.G1220R	ENST00000263857	25/34	110	93	17	115	115	0	strelka-varscan-mutect	POLR1A,missense_variant,p.Gly1220Arg,ENST00000263857,NM_015425.3;POLR1A,missense_variant,p.Gly1220Arg,ENST00000409681,;POLR1A,non_coding_transcript_exon_variant,,ENST00000462078,;POLR1A,upstream_gene_variant,,ENST00000492034,;POLR1A,upstream_gene_variant,,ENST00000496892,;	T	ENST00000263857	Transcript	missense_variant	4037/12749	3658/5163	1220/1720	G/R	Gga/Aga		1		-1	POLR1A	HGNC	HGNC:17264	protein_coding	YES	CCDS42706.1	ENSP00000263857	O95602		UPI0000D7DB86	NM_015425.3	deleterious(0)		25/34		hmmpanther:PTHR19376:SF11,hmmpanther:PTHR19376,Pfam_domain:PF04998,Superfamily_domains:SSF64484																	MODERATE	1	SNV	1			1										PASS		rs1461382886	.												T	3	4	46	86040474	86040474	C	T	1	0	0	0	0	1	0	0	0	12319	661	23	1		1	POLR1A	2	86040474	Missense_Mutation	SNP	C	C3N-00294_TP	731264	86040474	156153055	207	13709											
KDM3A	0	.	GRCh38	chr2	86485733	86485733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttctgttgttctaggtttGatgatctgatggccaacatt	7	17	11	6	0	3	3	0	3	3	0	3	3	3	3	1	3	1	4	1	3	2	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3187G>A	p.Asp1063Asn	p.D1063N	ENST00000409556	22/27	141	119	22	108	108	0	strelka-varscan-mutect	KDM3A,missense_variant,p.Asp1063Asn,ENST00000409556,;KDM3A,missense_variant,p.Asp1063Asn,ENST00000312912,NM_018433.5;KDM3A,missense_variant,p.Asp1063Asn,ENST00000409064,NM_001146688.1;KDM3A,missense_variant,p.Asp1063Asn,ENST00000542128,;KDM3A,non_coding_transcript_exon_variant,,ENST00000462197,;KDM3A,3_prime_UTR_variant,,ENST00000441719,;KDM3A,upstream_gene_variant,,ENST00000491383,;KDM3A,upstream_gene_variant,,ENST00000470160,;KDM3A,upstream_gene_variant,,ENST00000483866,;	A	ENST00000409556	Transcript	missense_variant	3552/4928	3187/3966	1063/1321	D/N	Gat/Aat		1		1	KDM3A	HGNC	HGNC:20815	protein_coding	YES	CCDS1990.1	ENSP00000386660	Q9Y4C1		UPI0000161FAE		deleterious(0.02)		22/27		PROSITE_profiles:PS51184,hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF7,SMART_domains:SM00558,Superfamily_domains:SSF51197																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	86485733	86485733	G	A	1	0	0	0	0	1	0	0	0	8044	1304	45	3		3	KDM3A	2	86485733	Missense_Mutation	SNP	G	C3N-00294_TP	445259	86485733	155707796	208	13710											
CHMP3	0	.	GRCh38	chr2	86563309	86563309	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccgtagcccttaccagttCtttgggcggcttctcctggg	3	12	12	14	3	2	0	0	0	2	0	3	0	2	0	4	3	2	3	4	3	2	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.40G>C	p.Glu14Gln	p.E14Q	ENST00000263856	1/6	163	135	28	116	116	0	strelka-varscan-mutect	CHMP3,missense_variant,p.Glu14Gln,ENST00000263856,NM_016079.3;CHMP3,missense_variant,p.Glu14Gln,ENST00000409727,NM_001193517.1;CHMP3,5_prime_UTR_variant,,ENST00000409225,NM_001005753.2;RNF103-CHMP3,intron_variant,,ENST00000604011,NM_001198954.1;RNF103-CHMP3,intron_variant,,ENST00000440757,;AC015971.2,non_coding_transcript_exon_variant,,ENST00000597638,;AC015971.2,intron_variant,,ENST00000439077,;CHMP3,non_coding_transcript_exon_variant,,ENST00000485465,;CHMP3,upstream_gene_variant,,ENST00000393773,;CHMP3,upstream_gene_variant,,ENST00000486404,;	G	ENST00000263856	Transcript	missense_variant	169/3171	40/669	14/222	E/Q	Gaa/Caa		1		-1	CHMP3	HGNC	HGNC:29865	protein_coding	YES	CCDS33236.1	ENSP00000263856	Q9Y3E7		UPI000006E953	NM_016079.3	tolerated(0.14)		1/6		hmmpanther:PTHR10476,hmmpanther:PTHR10476:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	86563309	86563309	C	G	1	0	0	0	0	1	0	0	0	3115	927	32	4		4	CHMP3	2	86563309	Missense_Mutation	SNP	C	C3N-00294_TP	77576	86563309	155630220	209	13711											
RNF103	0	.	GRCh38	chr2	86620342	86620342	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcatacctgaaccagccaGatgccatcttttgtgtcttc	8	15	6	12	0	3	2	1	1	2	1	4	2	3	2	4	0	4	0	4	0	2	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.354C>T	p.=	p.I118I	ENST00000237455	2/4	122	105	17	90	90	0	strelka-varscan-mutect	RNF103,synonymous_variant,p.=,ENST00000237455,NM_005667.3;RNF103-CHMP3,synonymous_variant,p.=,ENST00000604011,NM_001198954.1;RNF103-CHMP3,synonymous_variant,p.=,ENST00000440757,;AC015971.2,downstream_gene_variant,,ENST00000426549,;AC015971.2,downstream_gene_variant,,ENST00000424788,;AC015971.2,downstream_gene_variant,,ENST00000597638,;AC015971.2,downstream_gene_variant,,ENST00000439077,;RNF103,non_coding_transcript_exon_variant,,ENST00000477307,;RNF103,non_coding_transcript_exon_variant,,ENST00000463333,;RNF103,non_coding_transcript_exon_variant,,ENST00000472680,;RNF103,non_coding_transcript_exon_variant,,ENST00000465629,;	A	ENST00000237455	Transcript	synonymous_variant	1323/3477	354/2058	118/685	I	atC/atT		1		-1	RNF103	HGNC	HGNC:12859	protein_coding	YES	CCDS33237.1	ENSP00000237455	O00237		UPI0000073F2A	NM_005667.3			2/4		hmmpanther:PTHR15302,hmmpanther:PTHR15302:SF0																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	86620342	86620342	G	A	1	0	0	0	0	0	0	0	1	13601	932	33	3		3	RNF103	2	86620342	Silent	SNP	G	C3N-00294_TP	57033	86620342	155573187	210	13712											
EIF2AK3	0	.	GRCh38	chr2	88590500	88590500	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctacaatgtcttcttcatCttctaaaacatcatcattag	12	17	2	10	0	8	0	3	0	5	0	8	0	8	0	0	0	2	0	0	0	5	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1108G>C	p.Asp370His	p.D370H	ENST00000303236	6/17	142	118	24	222	222	0	strelka-varscan-mutect	EIF2AK3,missense_variant,p.Asp370His,ENST00000303236,NM_004836.5;EIF2AK3,missense_variant,p.Asp219His,ENST00000419748,NM_001313915.1;EIF2AK3,missense_variant,p.Asp249His,ENST00000415570,;EIF2AK3,downstream_gene_variant,,ENST00000477083,;	G	ENST00000303236	Transcript	missense_variant	1410/4646	1108/3351	370/1116	D/H	Gat/Cat		1		-1	EIF2AK3	HGNC	HGNC:3255	protein_coding	YES	CCDS33241.1	ENSP00000307235	Q9NZJ5		UPI000013E87D	NM_004836.5	tolerated(0.07)		6/17		hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF73,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	88590500	88590500	C	G	1	0	0	0	0	1	0	0	0	4834	913	32	4		4	EIF2AK3	2	88590500	Missense_Mutation	SNP	C	C3N-00294_TP	1970158	88590500	153603029	211	13713											
EIF2AK3	0	.	GRCh38	chr2	88595574	88595574	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaagaagtgattcaactgtGaaaggaactgtttccatgct	13	12	9	7	0	2	3	2	2	0	1	3	4	3	4	1	1	3	2	1	1	5	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.528C>T	p.=	p.F176F	ENST00000303236	3/17	304	251	53	324	322	2	strelka-varscan-mutect	EIF2AK3,synonymous_variant,p.=,ENST00000303236,NM_004836.5;EIF2AK3,synonymous_variant,p.=,ENST00000419748,NM_001313915.1;EIF2AK3,synonymous_variant,p.=,ENST00000415570,;EIF2AK3,upstream_gene_variant,,ENST00000477083,;	A	ENST00000303236	Transcript	synonymous_variant	830/4646	528/3351	176/1116	F	ttC/ttT		1		-1	EIF2AK3	HGNC	HGNC:3255	protein_coding	YES	CCDS33241.1	ENSP00000307235	Q9NZJ5		UPI000013E87D	NM_004836.5			3/17		Gene3D:2.140.10.10,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF73,Superfamily_domains:SSF50998																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	88595574	88595574	G	A	1	0	0	0	0	0	0	0	1	4834	1281	45	3		3	EIF2AK3	2	88595574	Silent	SNP	G	C3N-00294_TP	5074	88595574	153597955	212	13714											
FER1L5	0	.	GRCh38	chr2	96649668	96649668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatgagcaaccaggatattGagaagacaggtatgtccttc	14	9	10	8	0	0	3	0	2	0	2	2	5	1	4	2	2	2	2	2	2	4	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.385G>C	p.Glu129Gln	p.E129Q	ENST00000624922	5/53	161	141	20	184	184	0	strelka-varscan-mutect	FER1L5,missense_variant,p.Glu129Gln,ENST00000623019,;FER1L5,missense_variant,p.Glu129Gln,ENST00000624922,NM_001293083.1;FER1L5,missense_variant,p.Glu129Gln,ENST00000622983,;FER1L5,5_prime_UTR_variant,,ENST00000623246,;FER1L5,non_coding_transcript_exon_variant,,ENST00000436930,;FER1L5,non_coding_transcript_exon_variant,,ENST00000505256,;	C	ENST00000624922	Transcript	missense_variant	385/6367	385/6174	129/2057	E/Q	Gag/Cag		1		1	FER1L5	HGNC	HGNC:19044	protein_coding	YES	CCDS77438.1	ENSP00000485238		A0A096LNV2	UPI00046B3755	NM_001293083.1	tolerated(0.19)		5/53		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF34																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	46	96649668	96649668	G	C	1	0	0	0	0	1	0	0	0	5677	1291	45	4		4	FER1L5	2	96649668	Missense_Mutation	SNP	G	C3N-00294_TP	8054094	96649668	145543861	213	13715											
CNNM4	0	.	GRCh38	chr2	96799065	96799065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctcctacagaggtctctCagtttagcccctccctgata	7	12	6	16	0	2	2	1	1	1	1	6	2	5	2	5	1	2	1	5	1	3	4	rs80100937		C3N-00294_TP	C3N-00294_NB	C	C																c.1690C>G	p.Gln564Glu	p.Q564E	ENST00000377075	4/7	336	290	46	304	304	0	strelka-varscan-mutect	CNNM4,missense_variant,p.Gln564Glu,ENST00000377075,NM_020184.3;MIR3127,downstream_gene_variant,,ENST00000583925,;CNNM4,non_coding_transcript_exon_variant,,ENST00000496186,;CNNM4,non_coding_transcript_exon_variant,,ENST00000493384,;CNNM4,downstream_gene_variant,,ENST00000482716,;	G	ENST00000377075	Transcript	missense_variant	1788/4800	1690/2328	564/775	Q/E	Cag/Gag	rs80100937,CM090742	1		1	CNNM4	HGNC	HGNC:105	protein_coding	YES	CCDS2024.2	ENSP00000366275	Q6P4Q7		UPI0000207C95	NM_020184.3	tolerated(0.29)		4/7		hmmpanther:PTHR12064,hmmpanther:PTHR12064:SF26										pathogenic		19200525					MODERATE	1	SNV	1		1,1	1										PASS		rs80100937	.												G	3	3	46	96799065	96799065	C	G	1	0	0	0	0	1	0	0	0	3395	827	29	4		4	CNNM4	2	96799065	Missense_Mutation	SNP	C	C3N-00294_TP	149397	96799065	145394464	214	13716											
TXNDC9	0	.	GRCh38	chr2	99333189	99333189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggactttggaaaacatgtCaacagatgcatcagcttcca	14	9	8	10	0	2	1	2	0	0	1	3	3	3	3	1	2	4	2	1	2	3	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.22G>A	p.Asp8Asn	p.D8N	ENST00000264255	2/5	210	172	38	178	178	0	strelka-varscan-mutect	TXNDC9,missense_variant,p.Asp8Asn,ENST00000264255,NM_005783.3;TXNDC9,missense_variant,p.Asp8Asn,ENST00000409434,;TXNDC9,missense_variant,p.Asp8Asn,ENST00000434323,;TXNDC9,missense_variant,p.Asp8Asn,ENST00000409705,;EIF5B,upstream_gene_variant,,ENST00000289371,NM_015904.3;EIF5B,upstream_gene_variant,,ENST00000617677,;TXNDC9,downstream_gene_variant,,ENST00000477337,;TXNDC9,missense_variant,p.Asp8Asn,ENST00000422767,;TXNDC9,missense_variant,p.Asp8Asn,ENST00000438680,;TXNDC9,non_coding_transcript_exon_variant,,ENST00000463385,;TXNDC9,non_coding_transcript_exon_variant,,ENST00000465183,;	T	ENST00000264255	Transcript	missense_variant	278/1637	22/681	8/226	D/N	Gac/Aac		1		-1	TXNDC9	HGNC	HGNC:24110	protein_coding	YES	CCDS2044.1	ENSP00000264255	O14530		UPI0000124E09	NM_005783.3	tolerated(0.33)		2/5		hmmpanther:PTHR21148																	MODERATE	1	SNV	1			1										PASS		rs944239035	.												T	3	4	46	99333189	99333189	C	T	1	0	0	0	0	1	0	0	0	17316	826	29	3		3	TXNDC9	2	99333189	Missense_Mutation	SNP	C	C3N-00294_TP	2534124	99333189	142860340	215	13717											
MAP4K4	0	.	GRCh38	chr2	101859650	101859650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccctctccaaggagtgccGatggcgggagatggaggagc	8	6	16	11	2	1	1	0	0	1	1	3	6	2	4	3	5	2	0	3	5	1	0	rs772128002		C3N-00294_TP	C3N-00294_NB	G	G																c.1490G>A	p.Arg497Gln	p.R497Q	ENST00000625522	15/31	104	90	14	122	122	0	strelka-varscan-mutect	MAP4K4,missense_variant,p.Arg497Gln,ENST00000625522,;MAP4K4,missense_variant,p.Arg295Gln,ENST00000302217,;MAP4K4,missense_variant,p.Arg350Gln,ENST00000456652,;MAP4K4,missense_variant,p.Arg497Gln,ENST00000347699,NM_001242559.1;MAP4K4,missense_variant,p.Arg237Gln,ENST00000421882,;MAP4K4,missense_variant,p.Arg350Gln,ENST00000627726,;MAP4K4,missense_variant,p.Arg86Gln,ENST00000418101,;MAP4K4,intron_variant,,ENST00000350878,NM_145686.3;MAP4K4,intron_variant,,ENST00000324219,NM_001242560.1;MAP4K4,intron_variant,,ENST00000350198,;MAP4K4,intron_variant,,ENST00000413150,;MAP4K4,intron_variant,,ENST00000425019,;MAP4K4,intron_variant,,ENST00000417294,;MAP4K4,intron_variant,,ENST00000634702,NM_004834.4,NM_145687.3;MAP4K4,intron_variant,,ENST00000476609,;	A	ENST00000625522	Transcript	missense_variant	1545/7458	1490/3963	497/1320	R/Q	cGa/cAa	rs772128002	1		1	MAP4K4	HGNC	HGNC:6866	protein_coding			ENSP00000486116		A0A0D9SEY1	UPI000014130C		tolerated_low_confidence(0.1)		15/31		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF225																	MODERATE		SNV	5			1										PASS		rs772128002	.												A	3	1	46	101859650	101859650	G	A	1	0	0	0	0	1	0	0	0	9186	1058	37	1		1	MAP4K4	2	101859650	Missense_Mutation	SNP	G	C3N-00294_TP	2526461	101859650	140333879	216	13718											
RGPD4	0	.	GRCh38	chr2	107838307	107838307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggatcccagagctcacaGatttctgggtcttctttatg	8	14	10	9	0	4	2	1	0	3	2	5	4	5	3	1	2	1	1	1	2	1	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.191G>A	p.Arg64Lys	p.R64K	ENST00000408999	3/23	30	23	7	16	16	0	strelka-varscan-mutect	RGPD4,missense_variant,p.Arg64Lys,ENST00000408999,NM_182588.2;	A	ENST00000408999	Transcript	missense_variant	268/5464	191/5277	64/1758	R/K	aGa/aAa		1		1	RGPD4	HGNC	HGNC:32417	protein_coding	YES	CCDS46381.1	ENSP00000386810	Q7Z3J3		UPI0000418FF7	NM_182588.2	tolerated(0.7)		3/23		PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23138:SF86,hmmpanther:PTHR23138,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	107838307	107838307	G	A	1	0	0	0	0	1	0	0	0	13460	942	33	3		3	RGPD4	2	107838307	Missense_Mutation	SNP	G	C3N-00294_TP	5978657	107838307	134355222	217	13719											
GCC2	0	.	GRCh38	chr2	108471580	108471580	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttgaaaatgagcaagttCagaagttatttgttaaaact	15	14	8	4	0	1	3	1	2	0	1	1	3	1	3	0	0	3	5	0	0	7	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2251C>G	p.Gln751Glu	p.Q751E	ENST00000309863	6/23	83	71	12	106	106	0	strelka-varscan-mutect	GCC2,missense_variant,p.Gln751Glu,ENST00000309863,NM_181453.3;GCC2,missense_variant,p.Gln714Glu,ENST00000409896,;GCC2,upstream_gene_variant,,ENST00000462897,;GCC2,downstream_gene_variant,,ENST00000409821,;GCC2,upstream_gene_variant,,ENST00000492785,;GCC2,downstream_gene_variant,,ENST00000485546,;GCC2,downstream_gene_variant,,ENST00000478207,;GCC2,3_prime_UTR_variant,,ENST00000482325,;GCC2,upstream_gene_variant,,ENST00000447558,;	G	ENST00000309863	Transcript	missense_variant	2965/7537	2251/5055	751/1684	Q/E	Cag/Gag		1		1	GCC2	HGNC	HGNC:23218	protein_coding	YES	CCDS33268.1	ENSP00000307939	Q8IWJ2		UPI000049DF0C	NM_181453.3	tolerated(0.39)		6/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF25																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	46	108471580	108471580	C	G	1	0	0	0	0	1	0	0	0	6156	827	29	4		4	GCC2	2	108471580	Missense_Mutation	SNP	C	C3N-00294_TP	633273	108471580	133721949	218	13720											
RANBP2	0	.	GRCh38	chr2	108730844	108730844	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatttctgggtcttctttatGaattggaagaaaacacagac	13	13	9	6	0	3	3	0	1	3	2	3	5	3	4	0	2	1	0	0	2	5	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.211G>C	p.Glu71Gln	p.E71Q	ENST00000283195	3/29	298	256	42	389	389	0	strelka-varscan-mutect	RANBP2,missense_variant,p.Glu71Gln,ENST00000283195,NM_006267.4;RANBP2,intron_variant,,ENST00000629728,;RANBP2,non_coding_transcript_exon_variant,,ENST00000495924,;RANBP2,intron_variant,,ENST00000425282,;	C	ENST00000283195	Transcript	missense_variant	337/11711	211/9675	71/3224	E/Q	Gaa/Caa		1		1	RANBP2	HGNC	HGNC:9848	protein_coding	YES	CCDS2079.1	ENSP00000283195	P49792		UPI0000207FB9	NM_006267.4	tolerated(0.06)		3/29		PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF100,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	108730844	108730844	G	C	1	0	0	0	0	1	0	0	0	13187	1291	45	4		4	RANBP2	2	108730844	Missense_Mutation	SNP	G	C3N-00294_TP	259264	108730844	133462685	219	13721											
RANBP2	0	.	GRCh38	chr2	108768327	108768327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatagcaaagtcaaaaatctCtttgcttcctttccaacgga	13	12	6	10	1	2	0	1	0	1	0	5	2	4	1	2	1	3	2	2	1	5	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.7788C>T	p.=	p.L2596L	ENST00000283195	20/29	442	362	80	564	564	0	strelka-varscan-mutect	RANBP2,synonymous_variant,p.=,ENST00000283195,NM_006267.4;	T	ENST00000283195	Transcript	synonymous_variant	7914/11711	7788/9675	2596/3224	L	ctC/ctT		1		1	RANBP2	HGNC	HGNC:9848	protein_coding	YES	CCDS2079.1	ENSP00000283195	P49792		UPI0000207FB9	NM_006267.4			20/29		hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF100																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	108768327	108768327	C	T	1	0	0	0	0	0	0	0	1	13187	900	32	3		3	RANBP2	2	108768327	Silent	SNP	C	C3N-00294_TP	37483	108768327	133425202	220	13722											
SH3RF3	0	.	GRCh38	chr2	109436995	109436995	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacccaggcagtgggagtctGagcagcctggccactgccac	8	5	13	15	0	1	1	0	1	1	0	1	2	1	2	4	3	3	2	4	3	0	0	rs765140856		C3N-00294_TP	C3N-00294_NB	G	G																c.1677G>C	p.=	p.L559L	ENST00000309415	7/10	299	265	34	292	292	0	strelka-varscan-mutect	SH3RF3,synonymous_variant,p.=,ENST00000309415,NM_001099289.2;	C	ENST00000309415	Transcript	synonymous_variant	1870/5803	1677/2649	559/882	L	ctG/ctC	rs765140856	1		1	SH3RF3	HGNC	HGNC:24699	protein_coding	YES	CCDS74557.1	ENSP00000309186	Q8TEJ3		UPI0000DD7AEA	NM_001099289.2			7/10																			LOW	1	SNV	5			1										PASS		rs765140856	.												C	2	2	46	109436995	109436995	G	C	1	0	0	0	0	0	0	0	1	14519	1277	45	4		4	SH3RF3	2	109436995	Silent	SNP	G	C3N-00294_TP	668668	109436995	132756534	221	13723											
SOWAHC	0	.	GRCh38	chr2	109614535	109614535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgaggcggcgctgggccccGaggcggtgctgcgcttcctg	2	6	18	15	6	0	0	0	0	0	0	1	2	1	0	4	5	2	3	4	5	0	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.46G>A	p.Glu16Lys	p.E16K	ENST00000356454	1/1	35	29	6	19	19	0	strelka-mutect	SOWAHC,missense_variant,p.Glu16Lys,ENST00000356454,NM_023016.3;SEPT10,upstream_gene_variant,,ENST00000356688,NM_001321498.1;SEPT10,upstream_gene_variant,,ENST00000397712,NM_001321509.1,NM_144710.3;SEPT10,upstream_gene_variant,,ENST00000397714,NM_178584.2;SEPT10,upstream_gene_variant,,ENST00000437928,;SEPT10,upstream_gene_variant,,ENST00000415095,;SEPT10,upstream_gene_variant,,ENST00000493445,;SEPT10,upstream_gene_variant,,ENST00000442746,;SEPT10,upstream_gene_variant,,ENST00000461295,;SEPT10,upstream_gene_variant,,ENST00000423520,;SEPT10,upstream_gene_variant,,ENST00000411469,;SEPT10,upstream_gene_variant,,ENST00000486678,;SEPT10,upstream_gene_variant,,ENST00000425498,;	A	ENST00000356454	Transcript	missense_variant	202/4657	46/1578	16/525	E/K	Gag/Aag		1		1	SOWAHC	HGNC	HGNC:26149	protein_coding	YES	CCDS33270.1	ENSP00000365830	Q53LP3		UPI0000208A9B	NM_023016.3	deleterious(0.01)		1/1		hmmpanther:PTHR14491,hmmpanther:PTHR14491:SF4																	MODERATE		SNV				1										PASS		.	.												A	3	1	46	109614535	109614535	G	A	1	0	0	0	0	1	0	0	0	15264	1059	37	1		1	SOWAHC	2	109614535	Missense_Mutation	SNP	G	C3N-00294_TP	177540	109614535	132578994	222	13724											
SOWAHC	0	.	GRCh38	chr2	109614799	109614799	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtgaccgccgagcccGaggcccccgacggccctgcc	5	3	13	20	5	0	1	0	1	0	0	1	4	1	1	8	3	2	0	8	3	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.310G>T	p.Glu104Ter	p.E104*	ENST00000356454	1/1	189	135	54	124	124	0	strelka-varscan-mutect	SOWAHC,stop_gained,p.Glu104Ter,ENST00000356454,NM_023016.3;SEPT10,upstream_gene_variant,,ENST00000356688,NM_001321498.1;SEPT10,upstream_gene_variant,,ENST00000397712,NM_001321509.1,NM_144710.3;SEPT10,upstream_gene_variant,,ENST00000397714,NM_178584.2;SEPT10,upstream_gene_variant,,ENST00000437928,;SEPT10,upstream_gene_variant,,ENST00000415095,;SEPT10,upstream_gene_variant,,ENST00000493445,;SEPT10,upstream_gene_variant,,ENST00000442746,;SEPT10,upstream_gene_variant,,ENST00000461295,;SEPT10,upstream_gene_variant,,ENST00000423520,;SEPT10,upstream_gene_variant,,ENST00000411469,;SEPT10,upstream_gene_variant,,ENST00000486678,;SEPT10,upstream_gene_variant,,ENST00000425498,;	T	ENST00000356454	Transcript	stop_gained	466/4657	310/1578	104/525	E/*	Gag/Tag		1		1	SOWAHC	HGNC	HGNC:26149	protein_coding	YES	CCDS33270.1	ENSP00000365830	Q53LP3		UPI0000208A9B	NM_023016.3			1/1		hmmpanther:PTHR14491,hmmpanther:PTHR14491:SF4,Low_complexity_(Seg):seg																	HIGH		SNV				1										PASS		rs1393591236	.												T	4	4	46	109614799	109614799	G	T	1	0	0	0	0	0	1	0	0	15264	1059	37	1		1	SOWAHC	2	109614799	Nonsense_Mutation	SNP	G	C3N-00294_TP	264	109614799	132578730	223	13725											
MERTK	0	.	GRCh38	chr2	111997387	111997387	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagatcctgtgctcatcatCtttggctgcttttgtggatt	5	17	10	9	0	3	1	2	0	1	1	4	2	4	2	1	2	2	4	1	2	0	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1515C>G	p.Ile505Met	p.I505M	ENST00000295408	10/19	724	619	105	680	680	0	strelka-varscan-mutect	MERTK,missense_variant,p.Ile505Met,ENST00000295408,;MERTK,missense_variant,p.Ile505Met,ENST00000421804,NM_006343.2;MERTK,missense_variant,p.Ile329Met,ENST00000409780,;MERTK,missense_variant,p.Leu162Val,ENST00000616902,;MERTK,3_prime_UTR_variant,,ENST00000439966,;MERTK,non_coding_transcript_exon_variant,,ENST00000473065,;	G	ENST00000295408	Transcript	missense_variant	1772/3954	1515/3000	505/999	I/M	atC/atG		1		1	MERTK	HGNC	HGNC:7027	protein_coding	YES	CCDS2094.1	ENSP00000295408	Q12866		UPI000013E252		tolerated(0.06)		10/19		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF257																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	111997387	111997387	C	G	1	0	0	0	0	1	0	0	0	9424	913	32	4		4	MERTK	2	111997387	Missense_Mutation	SNP	C	C3N-00294_TP	2382588	111997387	130196142	224	13726											
MERTK	0	.	GRCh38	chr2	111997414	111997414	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttttgtggatttattttGattgggttgattttatacat	7	23	9	2	0	0	2	0	2	0	0	0	3	0	3	0	2	2	2	0	2	3	11	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1542G>C	p.Leu514Phe	p.L514F	ENST00000295408	10/19	646	548	98	567	567	0	strelka-varscan-mutect	MERTK,missense_variant,p.Leu514Phe,ENST00000295408,;MERTK,missense_variant,p.Leu514Phe,ENST00000421804,NM_006343.2;MERTK,missense_variant,p.Leu338Phe,ENST00000409780,;MERTK,missense_variant,p.Leu169Phe,ENST00000616902,;MERTK,3_prime_UTR_variant,,ENST00000439966,;MERTK,non_coding_transcript_exon_variant,,ENST00000473065,;	C	ENST00000295408	Transcript	missense_variant	1799/3954	1542/3000	514/999	L/F	ttG/ttC		1		1	MERTK	HGNC	HGNC:7027	protein_coding	YES	CCDS2094.1	ENSP00000295408	Q12866		UPI000013E252		tolerated(0.11)		10/19		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF257																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	111997414	111997414	G	C	1	0	0	0	0	1	0	0	0	9424	1304	45	4		4	MERTK	2	111997414	Missense_Mutation	SNP	G	C3N-00294_TP	27	111997414	130196115	225	13727											
RGPD8	0	.	GRCh38	chr2	112390187	112390187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgccaaatttaaatccatCagcagacacagggatggaaa	18	7	8	8	0	1	1	1	0	0	1	2	3	2	3	2	2	2	1	2	2	5	2	rs778910571		C3N-00294_TP	C3N-00294_NB	C	C																c.2758G>C	p.Asp920His	p.D920H	ENST00000302558	20/23	223	191	32	229	229	0	strelka-varscan-mutect	RGPD8,missense_variant,p.Asp920His,ENST00000302558,NM_001164463.1;RGPD8,missense_variant,p.Asp780His,ENST00000409750,;RGPD8,downstream_gene_variant,,ENST00000330575,;RGPD8,3_prime_UTR_variant,,ENST00000522286,;	G	ENST00000302558	Transcript	missense_variant	2950/5576	2758/5298	920/1765	D/H	Gat/Cat	rs778910571	1		-1	RGPD8	HGNC	HGNC:9849	protein_coding	YES	CCDS46394.1	ENSP00000306637	O14715		UPI000013E7F5	NM_001164463.1	deleterious(0.02)		20/23		hmmpanther:PTHR23138:SF86,hmmpanther:PTHR23138																	MODERATE	1	SNV	1			1										PASS		rs778910571	.												G	3	3	46	112390187	112390187	C	G	1	0	0	0	0	1	0	0	0	13461	826	29	4		4	RGPD8	2	112390187	Missense_Mutation	SNP	C	C3N-00294_TP	392773	112390187	129803342	226	13728											
RGPD8	0	.	GRCh38	chr2	112404043	112404043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcatcgctaccaagaaaaGatgtatccttaggtgactga	14	11	8	8	1	1	4	1	2	0	2	3	4	2	4	2	1	1	2	2	1	7	4			C3N-00294_TP	C3N-00294_NB	G	G																c.1199C>G	p.Ser400Cys	p.S400C	ENST00000302558	9/23	91	76	15	105	105	0	strelka-varscan-mutect	RGPD8,missense_variant,p.Ser400Cys,ENST00000302558,NM_001164463.1;RGPD8,missense_variant,p.Ser260Cys,ENST00000409750,;RGPD8,missense_variant,p.Ser400Cys,ENST00000330575,;RGPD8,intron_variant,,ENST00000522286,;RGPD8,upstream_gene_variant,,ENST00000482903,;	C	ENST00000302558	Transcript	missense_variant	1391/5576	1199/5298	400/1765	S/C	tCt/tGt	COSM1590486,COSM1590487,COSM1590488	1		-1	RGPD8	HGNC	HGNC:9849	protein_coding	YES	CCDS46394.1	ENSP00000306637	O14715		UPI000013E7F5	NM_001164463.1	deleterious(0.05)		9/23		hmmpanther:PTHR23138:SF86,hmmpanther:PTHR23138											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												C	3	2	46	112404043	112404043	G	C	1	0	0	0	0	1	0	0	0	13461	942	33	4		4	RGPD8	2	112404043	Missense_Mutation	SNP	G	C3N-00294_TP	13856	112404043	129789486	227	13729											
TMEM185B	0	.	GRCh38	chr2	120222332	120222332	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacaatcgttatccaactGatagccatggtcacgtgtgt	11	11	9	10	3	1	1	1	1	0	0	3	2	2	1	2	1	2	1	2	1	4	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.645C>A	p.=	p.I215I	ENST00000426077	1/1	434	402	32	405	405	0	strelka-varscan-mutect	TMEM185B,synonymous_variant,p.=,ENST00000426077,NM_024121.2;	T	ENST00000426077	Transcript	synonymous_variant	1077/2131	645/1053	215/350	I	atC/atA		1		-1	TMEM185B	HGNC	HGNC:18896	protein_coding	YES	CCDS58722.1	ENSP00000453399	Q9H7F4		UPI0000074167	NM_024121.2			1/1		Pfam_domain:PF10269,hmmpanther:PTHR13568,hmmpanther:PTHR13568:SF5,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	46	120222332	120222332	G	T	1	0	0	0	0	0	0	0	1	16551	1280	45	2		2	TMEM185B	2	120222332	Silent	SNP	G	C3N-00294_TP	7818289	120222332	121971197	228	13730											
CLASP1	0	.	GRCh38	chr2	121447464	121447464	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atatcacttcgagatcgctgGagggacccagtcgttgacac	10	9	11	11	3	1	2	1	1	0	1	4	5	1	4	1	2	0	2	1	2	1	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1785C>A	p.=	p.L595L	ENST00000263710	19/40	261	211	50	194	194	0	strelka-varscan-mutect	CLASP1,synonymous_variant,p.=,ENST00000263710,NM_015282.2;CLASP1,synonymous_variant,p.=,ENST00000409078,NM_001142274.1;CLASP1,synonymous_variant,p.=,ENST00000397587,;CLASP1,synonymous_variant,p.=,ENST00000541377,NM_001207051.1;CLASP1,synonymous_variant,p.=,ENST00000455322,NM_001142273.1;CLASP1,synonymous_variant,p.=,ENST00000452274,;	T	ENST00000263710	Transcript	synonymous_variant	2175/8092	1785/4617	595/1538	L	ctC/ctA		1		-1	CLASP1	HGNC	HGNC:17088	protein_coding	YES		ENSP00000263710	Q7Z460		UPI00001A8BFF	NM_015282.2			19/40		hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF28																	LOW	1	SNV	5			1										PASS		rs1279080270	.												T	2	4	46	121447464	121447464	G	T	1	0	0	0	0	0	0	0	1	3217	1161	41	2		2	CLASP1	2	121447464	Silent	SNP	G	C3N-00294_TP	1225132	121447464	120746065	229	13731											
NIFK	0	.	GRCh38	chr2	121727792	121727792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagtctcttgtatttcttCttttacacaggatatgggct	7	19	8	7	0	3	1	0	1	3	0	4	2	3	2	0	2	1	2	0	2	3	8	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.814G>C	p.Glu272Gln	p.E272Q	ENST00000285814	7/7	183	144	39	212	212	0	strelka-varscan-mutect	NIFK,missense_variant,p.Glu272Gln,ENST00000285814,NM_032390.4;NIFK,missense_variant,p.Glu81Gln,ENST00000423105,;NIFK,downstream_gene_variant,,ENST00000447132,;NIFK,downstream_gene_variant,,ENST00000451734,;NIFK-AS1,intron_variant,,ENST00000419902,;NIFK,non_coding_transcript_exon_variant,,ENST00000481978,;NIFK,non_coding_transcript_exon_variant,,ENST00000498570,;NIFK,downstream_gene_variant,,ENST00000477693,;	G	ENST00000285814	Transcript	missense_variant	887/1734	814/882	272/293	E/Q	Gaa/Caa		1		-1	NIFK	HGNC	HGNC:17838	protein_coding	YES	CCDS2135.1	ENSP00000285814	Q9BYG3		UPI00000738EB	NM_032390.4	deleterious(0.04)		7/7																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	121727792	121727792	C	G	1	0	0	0	0	1	0	0	0	10450	922	32	4		4	NIFK	2	121727792	Missense_Mutation	SNP	C	C3N-00294_TP	280328	121727792	120465737	230	13732											
BIN1	0	.	GRCh38	chr2	127057571	127057571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttggacggggtgtgtttggGaggcggagggactggtgggc	4	9	23	5	2	0	0	0	0	0	0	0	4	0	4	0	9	0	1	0	9	0	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1033C>T	p.Pro345Ser	p.P345S	ENST00000316724	12/19	46	37	9	41	41	0	strelka-varscan-mutect	BIN1,missense_variant,p.Pro345Ser,ENST00000316724,NM_139343.2;BIN1,missense_variant,p.Pro314Ser,ENST00000346226,NM_139347.2;BIN1,missense_variant,p.Pro329Ser,ENST00000259238,NM_139346.2;BIN1,missense_variant,p.Pro314Ser,ENST00000393040,NM_139348.2;BIN1,intron_variant,,ENST00000357970,NM_139344.2;BIN1,intron_variant,,ENST00000351659,NM_139345.2;BIN1,intron_variant,,ENST00000393041,NM_139349.2;BIN1,intron_variant,,ENST00000352848,NM_004305.3;BIN1,intron_variant,,ENST00000409400,NM_139350.2;BIN1,intron_variant,,ENST00000348750,NM_139351.2;BIN1,intron_variant,,ENST00000376113,;BIN1,non_coding_transcript_exon_variant,,ENST00000484253,;BIN1,intron_variant,,ENST00000466111,;BIN1,upstream_gene_variant,,ENST00000462958,;	A	ENST00000316724	Transcript	missense_variant	1445/2693	1033/1782	345/593	P/S	Ccc/Tcc		1		-1	BIN1	HGNC	HGNC:1052	protein_coding	YES	CCDS2138.1	ENSP00000316779	O00499	A0A024RAF1	UPI0000001303	NM_139343.2	deleterious(0.03)		12/19		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF192,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	127057571	127057571	G	A	1	0	0	0	0	1	0	0	0	1583	1174	41	3		3	BIN1	2	127057571	Missense_Mutation	SNP	G	C3N-00294_TP	5329779	127057571	115135958	231	13733											
HS6ST1	0	.	GRCh38	chr2	128268743	128268743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagcagggcggcagctcctCaggcgtgggcgtgcgcccat	5	6	17	13	4	1	0	1	0	0	0	2	0	2	0	2	4	3	4	2	4	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.655G>C	p.Glu219Gln	p.E219Q	ENST00000259241	2/2	803	701	102	757	757	0	varscan-mutect	HS6ST1,missense_variant,p.Glu219Gln,ENST00000259241,NM_004807.2;HS6ST1,non_coding_transcript_exon_variant,,ENST00000463963,;HS6ST1,intron_variant,,ENST00000469019,;	G	ENST00000259241	Transcript	missense_variant	669/3932	655/1236	219/411	E/Q	Gag/Cag		1		-1	HS6ST1	HGNC	HGNC:5201	protein_coding	YES	CCDS42748.1	ENSP00000259241	O60243		UPI0000D61231	NM_004807.2	deleterious(0.03)		2/2		hmmpanther:PTHR12812:SF1,hmmpanther:PTHR12812,Pfam_domain:PF03567,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1463770620	.												G	3	3	46	128268743	128268743	C	G	1	0	0	0	0	1	0	0	0	7264	835	29	4		4	HS6ST1	2	128268743	Missense_Mutation	SNP	C	C3N-00294_TP	1211172	128268743	113924786	232	13734											
POTEF	0	.	GRCh38	chr2	130074901	130074901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagtgtgggtgaccccGtcaccagagtccatcacgat	9	7	12	13	2	2	2	2	1	0	1	3	3	3	2	4	2	0	1	4	2	0	0	rs375372153		C3N-00294_TP	C3N-00294_NB	G	G																c.2571C>T	p.=	p.D857D	ENST00000409914	17/17	318	258	60	236	236	0	strelka-varscan-mutect	POTEF,synonymous_variant,p.=,ENST00000409914,NM_001099771.2;	A	ENST00000409914	Transcript	synonymous_variant	2971/3842	2571/3228	857/1075	D	gaC/gaT	rs375372153	1		-1	POTEF	HGNC	HGNC:33905	protein_coding	YES	CCDS46409.1	ENSP00000386786	A5A3E0		UPI0000418FEA	NM_001099771.2			17/17		Gene3D:3.30.420.40,Pfam_domain:PF00022,Prints_domain:PR00190,SMART_domains:SM00268,Superfamily_domains:SSF53067																	LOW	1	SNV	1			1										PASS		rs375372153	.												A	2	1	46	130074901	130074901	G	A	1	0	0	0	0	0	0	0	1	12379	1136	40	1		1	POTEF	2	130074901	Silent	SNP	G	C3N-00294_TP	1806158	130074901	112118628	233	13735											
ARHGEF4	0	.	GRCh38	chr2	131041358	131041358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccggctgctgcagaagatGattgacatctccctggatgg	8	10	13	10	1	1	4	0	2	1	2	2	5	1	5	2	3	3	3	2	3	1	1			C3N-00294_TP	C3N-00294_NB	G	G																c.1233G>A	p.Met411Ile	p.M411I	ENST00000326016	9/14	372	296	76	314	314	0	strelka-varscan-mutect	ARHGEF4,missense_variant,p.Met1537Ile,ENST00000409359,;ARHGEF4,missense_variant,p.Met411Ile,ENST00000525839,NM_032995.2;ARHGEF4,missense_variant,p.Met436Ile,ENST00000392953,;ARHGEF4,missense_variant,p.Met411Ile,ENST00000326016,NM_015320.3;ARHGEF4,missense_variant,p.Met351Ile,ENST00000611048,;ARHGEF4,missense_variant,p.Met288Ile,ENST00000409303,;ARHGEF4,missense_variant,p.Met340Ile,ENST00000355771,;ARHGEF4,missense_variant,p.Met28Ile,ENST00000532720,;ARHGEF4,intron_variant,,ENST00000428230,;ARHGEF4,intron_variant,,ENST00000438985,;ARHGEF4,downstream_gene_variant,,ENST00000439368,;ARHGEF4,downstream_gene_variant,,ENST00000496764,;ARHGEF4,downstream_gene_variant,,ENST00000528247,;ARHGEF4,3_prime_UTR_variant,,ENST00000636987,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000490728,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000527365,;ARHGEF4,upstream_gene_variant,,ENST00000525092,;	A	ENST00000326016	Transcript	missense_variant	1752/3666	1233/2073	411/690	M/I	atG/atA	COSM3566459,COSM3566460,COSM3566461	1		1	ARHGEF4	HGNC	HGNC:684	protein_coding	YES	CCDS2165.1	ENSP00000316845	Q9NR80		UPI00001417F6	NM_015320.3	deleterious(0)		9/14		PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF103,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065											1,1,1						MODERATE	1	SNV	2		1,1,1	1										PASS		.	.												A	3	1	46	131041358	131041358	G	A	1	0	0	0	0	1	0	0	0	1043	1290	45	3		3	ARHGEF4	2	131041358	Missense_Mutation	SNP	G	C3N-00294_TP	966457	131041358	111152171	234	13736											
POTEE	0	.	GRCh38	chr2	131228374	131228374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatgctgtttctagtcatCatcatgtgtaagtgtttaca	10	17	8	6	0	4	0	3	0	1	0	4	0	4	0	0	0	2	5	0	0	4	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1048C>T	p.His350Tyr	p.H350Y	ENST00000356920	5/15	140	121	19	191	191	0	varscan-mutect	POTEE,missense_variant,p.His350Tyr,ENST00000356920,NM_001083538.1;POTEE,missense_variant,p.His350Tyr,ENST00000626191,;POTEE,missense_variant,p.His350Tyr,ENST00000613282,;PLEKHB2,intron_variant,,ENST00000404460,;RNU6-127P,upstream_gene_variant,,ENST00000390897,;POTEE,missense_variant,p.His360Tyr,ENST00000358087,;POTEE,missense_variant,p.His350Tyr,ENST00000514256,;	T	ENST00000356920	Transcript	missense_variant	1384/4159	1048/3228	350/1075	H/Y	Cat/Tat		1		1	POTEE	HGNC	HGNC:33895	protein_coding	YES	CCDS46414.1	ENSP00000439189	Q6S8J3		UPI0000F58EC8	NM_001083538.1	deleterious_low_confidence(0)		5/15		PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	131228374	131228374	C	T	1	0	0	0	0	1	0	0	0	12378	826	29	3		3	POTEE	2	131228374	Missense_Mutation	SNP	C	C3N-00294_TP	187016	131228374	110965155	235	13737											
MAP3K19	0	.	GRCh38	chr2	134988075	134988075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaacgacttaactagggctCccggaggctcgtttgatggg	8	10	13	10	3	1	1	1	1	0	0	3	3	2	2	1	4	2	3	1	4	3	3			C3N-00294_TP	C3N-00294_NB	C	C																c.797G>A	p.Gly266Glu	p.G266E	ENST00000392915	10/13	95	83	12	76	76	0	strelka-varscan-mutect	MAP3K19,missense_variant,p.Gly266Glu,ENST00000392915,;MAP3K19,missense_variant,p.Gly266Glu,ENST00000375845,NM_025052.4;MAP3K19,missense_variant,p.Gly153Glu,ENST00000358371,NM_001018044.2;MAP3K19,missense_variant,p.Gly171Glu,ENST00000637841,;MAP3K19,intron_variant,,ENST00000392917,NM_001282883.1;MAP3K19,intron_variant,,ENST00000375844,NM_001018046.2;MAP3K19,intron_variant,,ENST00000392918,NM_001018047.2;MAP3K19,upstream_gene_variant,,ENST00000437365,;MAP3K19,non_coding_transcript_exon_variant,,ENST00000638025,;MAP3K19,downstream_gene_variant,,ENST00000468155,;MAP3K19,upstream_gene_variant,,ENST00000478805,;	T	ENST00000392915	Transcript	missense_variant	1481/5030	797/3987	266/1328	G/E	gGa/gAa	COSM5394351	1		-1	MAP3K19	HGNC	HGNC:26249	protein_coding	YES	CCDS2176.2	ENSP00000376647		A8MWG7	UPI00004F77F2		tolerated(1)		10/13													1						MODERATE	1	SNV	2		1	1										PASS		rs1023047237	.												T	3	4	46	134988075	134988075	C	T	1	0	0	0	0	1	0	0	0	9172	855	30	3		3	MAP3K19	2	134988075	Missense_Mutation	SNP	C	C3N-00294_TP	3759701	134988075	107205454	236	13738											
LCT	0	.	GRCh38	chr2	135817898	135817898	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccccagaggaagccttCagggaaagtatcctgcagga	12	5	13	11	0	1	1	1	0	0	1	2	4	2	4	4	4	2	3	4	4	3	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1150G>T	p.Glu384Ter	p.E384*	ENST00000264162	6/17	484	417	67	431	431	0	strelka-varscan-mutect	LCT,stop_gained,p.Glu384Ter,ENST00000264162,NM_002299.2;AC011893.3,upstream_gene_variant,,ENST00000437007,;LCT,upstream_gene_variant,,ENST00000452974,;	A	ENST00000264162	Transcript	stop_gained	1161/6279	1150/5784	384/1927	E/*	Gaa/Taa		1		-1	LCT	HGNC	HGNC:6530	protein_coding	YES	CCDS2178.1	ENSP00000264162	P09848		UPI000013D4D2	NM_002299.2			6/17		Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	46	135817898	135817898	C	A	1	0	0	0	0	0	1	0	0	8599	835	29	2		2	LCT	2	135817898	Nonsense_Mutation	SNP	C	C3N-00294_TP	829823	135817898	106375631	237	13739											
THSD7B	0	.	GRCh38	chr2	137411741	137411741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcattcttccagaaggcaGaagggagcctcaccgaggac	11	7	12	11	1	2	2	1	0	1	2	3	5	3	4	3	3	2	2	3	3	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2828G>A	p.Arg943Lys	p.R943K	ENST00000272643	13/27	427	336	91	350	350	0	strelka-varscan-mutect	THSD7B,missense_variant,p.Arg943Lys,ENST00000409968,NM_001316349.1;THSD7B,missense_variant,p.Arg943Lys,ENST00000272643,;THSD7B,missense_variant,p.Arg912Lys,ENST00000413152,NM_001080427.1;	A	ENST00000272643	Transcript	missense_variant	2828/5939	2828/4827	943/1608	R/K	aGa/aAa		1		1	THSD7B	HGNC	HGNC:29348	protein_coding	YES		ENSP00000272643	Q9C0I4		UPI0004E4C87A		tolerated(1)		13/27		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	137411741	137411741	G	A	1	0	0	0	0	1	0	0	0	16314	942	33	3		3	THSD7B	2	137411741	Missense_Mutation	SNP	G	C3N-00294_TP	1593843	137411741	104781788	238	13740											
LRP1B	0	.	GRCh38	chr2	140841037	140841037	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcatcaaattctgagctaatCcagtataaattacgtgacac	15	12	5	9	1	3	2	2	2	1	0	4	2	4	2	1	0	2	2	1	0	6	5			C3N-00294_TP	C3N-00294_NB	C	C																c.4995G>A	p.Trp1665Ter	p.W1665*	ENST00000389484	30/91	152	134	18	144	144	0	strelka-varscan-mutect	LRP1B,stop_gained,p.Trp1665Ter,ENST00000389484,NM_018557.2;	T	ENST00000389484	Transcript	stop_gained	5967/16535	4995/13800	1665/4599	W/*	tgG/tgA	COSM4133145	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2			30/91		PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	46	140841037	140841037	C	T	1	0	0	0	0	0	1	0	0	8850	856	30	3		3	LRP1B	2	140841037	Nonsense_Mutation	SNP	C	C3N-00294_TP	3429296	140841037	101352492	239	13741											
ACVR2A	0	.	GRCh38	chr2	147927175	147927175	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaggtgaaagaattacccaGatgcagagactaacaaatat	18	8	9	6	0	0	4	0	1	0	3	0	5	0	4	1	1	3	2	1	1	7	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1443G>A	p.=	p.Q481Q	ENST00000241416	11/11	332	290	42	272	272	0	strelka-varscan-mutect	ACVR2A,synonymous_variant,p.=,ENST00000241416,NM_001278579.1,NM_001616.4;ACVR2A,synonymous_variant,p.=,ENST00000535787,NM_001278580.1;ACVR2A,synonymous_variant,p.=,ENST00000404590,;ORC4,downstream_gene_variant,,ENST00000535373,NM_001190879.2;ORC4,downstream_gene_variant,,ENST00000264169,NM_181742.3;ORC4,downstream_gene_variant,,ENST00000392857,NM_181741.3,NM_002552.4;ORC4,downstream_gene_variant,,ENST00000540442,NM_001190882.2;ORC4,downstream_gene_variant,,ENST00000536575,NM_001190881.2;ACVR2A,non_coding_transcript_exon_variant,,ENST00000495775,;	A	ENST00000241416	Transcript	synonymous_variant	2079/5728	1443/1542	481/513	Q	caG/caA		1		1	ACVR2A	HGNC	HGNC:173	protein_coding	YES	CCDS33301.1	ENSP00000241416	P27037		UPI0000126673	NM_001278579.1,NM_001616.4			11/11		PROSITE_profiles:PS50011,hmmpanther:PTHR23255:SF64,hmmpanther:PTHR23255,SMART_domains:SM00220																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	147927175	147927175	G	A	1	0	0	0	0	0	0	0	1	267	933	33	3		3	ACVR2A	2	147927175	Silent	SNP	G	C3N-00294_TP	7086138	147927175	94266354	240	13742											
MBD5	0	.	GRCh38	chr2	148469944	148469944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccacctacgacagtgttGagtttgctcagacagtctca	11	10	8	12	1	2	2	2	1	1	1	3	3	2	2	2	0	3	3	2	0	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2001G>T	p.Leu667Phe	p.L667F	ENST00000407073	9/15	134	117	17	124	124	0	strelka-varscan-mutect	MBD5,missense_variant,p.Leu667Phe,ENST00000407073,NM_018328.4;MBD5,missense_variant,p.Leu667Phe,ENST00000404807,;MBD5,missense_variant,p.Leu667Phe,ENST00000627651,;MBD5,missense_variant,p.Leu407Phe,ENST00000416015,;MBD5,upstream_gene_variant,,ENST00000638043,;MBD5,missense_variant,p.Leu667Phe,ENST00000629878,;MBD5,missense_variant,p.Leu146Phe,ENST00000628572,;	T	ENST00000407073	Transcript	missense_variant	2998/9512	2001/4485	667/1494	L/F	ttG/ttT		1		1	MBD5	HGNC	HGNC:20444	protein_coding	YES	CCDS33302.1	ENSP00000386049	Q9P267		UPI0000208C40	NM_018328.4	tolerated(0.29)		9/15		hmmpanther:PTHR16112:SF18,hmmpanther:PTHR16112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	148469944	148469944	G	T	1	0	0	0	0	1	0	0	0	9279	1281	45	2		2	MBD5	2	148469944	Missense_Mutation	SNP	G	C3N-00294_TP	542769	148469944	93723585	241	13743											
KIF5C	0	.	GRCh38	chr2	148875686	148875686	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccctcaacgaagcggagatCctccgcggggacaaattcat	11	6	10	14	4	2	1	2	0	0	1	4	4	4	2	4	3	2	0	4	3	3	1	rs374455258		C3N-00294_TP	C3N-00294_NB	C	C																c.69C>G	p.Ile23Met	p.I23M	ENST00000435030	1/26	265	241	24	240	240	0	strelka-varscan-mutect	KIF5C,missense_variant,p.Ile23Met,ENST00000435030,NM_004522.2;AC105402.4,intron_variant,,ENST00000601658,;AC105402.4,downstream_gene_variant,,ENST00000446781,;AC105402.3,upstream_gene_variant,,ENST00000413336,;	G	ENST00000435030	Transcript	missense_variant	437/6931	69/2874	23/957	I/M	atC/atG	rs374455258,COSM3296322	1		1	KIF5C	HGNC	HGNC:6325	protein_coding	YES	CCDS74586.1	ENSP00000393379	O60282		UPI000012DDB7	NM_004522.2	tolerated(0.07)		1/26		Gene3D:3.40.850.10,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF380,SMART_domains:SM00129,Superfamily_domains:SSF52540											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs374455258	.												G	3	3	46	148875686	148875686	C	G	1	0	0	0	0	1	0	0	0	8172	845	30	4		4	KIF5C	2	148875686	Missense_Mutation	SNP	C	C3N-00294_TP	405742	148875686	93317843	242	13744											
NEB	0	.	GRCh38	chr2	151662137	151662137	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cattattgaaagacttacttCgttcataatttttgcattat	12	19	4	6	1	1	2	1	1	0	1	2	2	1	2	0	0	2	2	0	0	5	9	rs146310692		C3N-00294_TP	C3N-00294_NB	C	C																c.5968G>C	p.Glu1990Gln	p.E1990Q	ENST00000618972	46/183	80	69	11	82	82	0	strelka-varscan-mutect	NEB,missense_variant,p.Glu1990Gln,ENST00000618972,NM_001271208.1;NEB,missense_variant,p.Glu1990Gln,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Glu1990Gln,ENST00000427231,NM_001164507.1;NEB,missense_variant,p.Glu1990Gln,ENST00000603639,;NEB,missense_variant,p.Glu1990Gln,ENST00000604864,;NEB,missense_variant,p.Glu1990Gln,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Glu1990Gln,ENST00000172853,;	G	ENST00000618972	Transcript	missense_variant,splice_region_variant	6171/26307	5968/25683	1990/8560	E/Q	Gaa/Caa	rs146310692	1		-1	NEB	HGNC	HGNC:7720	protein_coding	YES	CCDS74588.1	ENSP00000484342		A0A087X1N7	UPI0004E4CCB0	NM_001271208.1	tolerated(0.08)		46/183		PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227																	MODERATE	1	SNV	5			1										PASS		rs146310692	.												G	3	3	46	151662137	151662137	C	G	1	0	0	0	0	1	0	0	0	10326	898	31	4		4	NEB	2	151662137	Missense_Mutation	SNP	C	C3N-00294_TP	2786451	151662137	90531392	243	13745											
TBR1	0	.	GRCh38	chr2	161423696	161423696	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgacacggccacggacttCgcgggcaacgcggccacgct	8	5	13	15	7	0	1	0	1	0	0	1	2	0	2	2	4	1	2	2	4	2	2			C3N-00294_TP	C3N-00294_NB	C	C																c.1518C>T	p.=	p.F506F	ENST00000389554	6/6	175	135	40	164	164	0	strelka-varscan-mutect	TBR1,synonymous_variant,p.=,ENST00000389554,NM_006593.2;TBR1,synonymous_variant,p.=,ENST00000410035,;TBR1,synonymous_variant,p.=,ENST00000411412,;AC009487.5,upstream_gene_variant,,ENST00000505579,;AC009487.4,upstream_gene_variant,,ENST00000444164,;AC009487.4,upstream_gene_variant,,ENST00000437683,;SLC4A10,upstream_gene_variant,,ENST00000605990,;SLC4A10,upstream_gene_variant,,ENST00000482861,;TBR1,downstream_gene_variant,,ENST00000489530,;SLC4A10,upstream_gene_variant,,ENST00000606386,;TBR1,downstream_gene_variant,,ENST00000477804,;TBR1,non_coding_transcript_exon_variant,,ENST00000463544,;	T	ENST00000389554	Transcript	synonymous_variant	1835/4009	1518/2049	506/682	F	ttC/ttT	COSM3895065	1		1	TBR1	HGNC	HGNC:11590	protein_coding	YES	CCDS33310.1	ENSP00000374205	Q16650		UPI0000136A99	NM_006593.2			6/6		hmmpanther:PTHR11267:SF88,hmmpanther:PTHR11267,Pfam_domain:PF16176											1						LOW	1	SNV	1		1	1										PASS		rs1340272250	.												T	2	4	46	161423696	161423696	C	T	1	0	0	0	0	0	0	0	1	16052	883	31	1		1	TBR1	2	161423696	Silent	SNP	C	C3N-00294_TP	9761559	161423696	80769833	244	13746											
IFIH1	0	.	GRCh38	chr2	162281345	162281345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttttaaaatgtgttcttCagctttggcttgcttcgtgg	6	19	9	7	1	2	0	1	0	1	0	3	0	2	0	0	2	3	4	0	2	3	8	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1507G>A	p.Glu503Lys	p.E503K	ENST00000263642	7/16	133	110	23	94	94	0	strelka-varscan-mutect	IFIH1,missense_variant,p.Glu503Lys,ENST00000263642,NM_022168.3;	T	ENST00000263642	Transcript	missense_variant	1903/3595	1507/3078	503/1025	E/K	Gaa/Aaa		1		-1	IFIH1	HGNC	HGNC:18873	protein_coding	YES	CCDS2217.1	ENSP00000263642	Q9BYX4		UPI000013D436	NM_022168.3	tolerated(0.12)		7/16		PROSITE_profiles:PS51192,hmmpanther:PTHR14074,hmmpanther:PTHR14074:SF14,SMART_domains:SM00487																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	162281345	162281345	C	T	1	0	0	0	0	1	0	0	0	7420	835	29	3		3	IFIH1	2	162281345	Missense_Mutation	SNP	C	C3N-00294_TP	857649	162281345	79912184	245	13747											
FIGN	0	.	GRCh38	chr2	163611386	163611386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggctaccccaggagagcttCctatactcgcagagacatct	10	9	9	13	1	1	2	0	0	1	2	3	4	2	2	3	2	3	3	3	2	3	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.446G>T	p.Gly149Val	p.G149V	ENST00000333129	3/3	220	180	40	180	180	0	strelka-varscan-mutect	FIGN,missense_variant,p.Gly149Val,ENST00000333129,NM_018086.2;FIGN,intron_variant,,ENST00000409634,;FIGN,non_coding_transcript_exon_variant,,ENST00000482917,;	A	ENST00000333129	Transcript	missense_variant	761/9536	446/2280	149/759	G/V	gGa/gTa		1		-1	FIGN	HGNC	HGNC:13285	protein_coding	YES	CCDS2221.2	ENSP00000333836	Q5HY92		UPI000022BD13	NM_018086.2	tolerated(0.07)		3/3		hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	163611386	163611386	C	A	1	0	0	0	0	1	0	0	0	5755	855	30	2		2	FIGN	2	163611386	Missense_Mutation	SNP	C	C3N-00294_TP	1330041	163611386	78582143	246	13748											
SCN3A	0	.	GRCh38	chr2	165130113	165130113	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgtgggagcgtacagtcatCattgatcttgcagacacatt	10	11	10	10	2	3	2	2	1	1	1	3	3	3	3	1	1	3	2	1	1	1	4	rs200738468		C3N-00294_TP	C3N-00294_NB	C	C																c.2749G>C	p.Asp917His	p.D917H	ENST00000283254	17/28	469	398	71	425	425	0	strelka-varscan-mutect	SCN3A,missense_variant,p.Asp917His,ENST00000360093,;SCN3A,missense_variant,p.Asp917His,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,missense_variant,p.Asp868His,ENST00000409101,NM_001081677.1;SCN3A,missense_variant,p.Asp868His,ENST00000440431,;AC013463.2,non_coding_transcript_exon_variant,,ENST00000629817,;AC013463.2,non_coding_transcript_exon_variant,,ENST00000628085,;AC013463.2,non_coding_transcript_exon_variant,,ENST00000625505,;SCN3A,upstream_gene_variant,,ENST00000484898,;	G	ENST00000283254	Transcript	missense_variant	3217/9091	2749/6003	917/2000	D/H	Gat/Cat	rs200738468	1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1	tolerated(0.1)		17/28		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219																	MODERATE	1	SNV	1			1										PASS		rs200738468	.												G	3	3	46	165130113	165130113	C	G	1	0	0	0	0	1	0	0	0	14187	826	29	4		4	SCN3A	2	165130113	Missense_Mutation	SNP	C	C3N-00294_TP	1518727	165130113	77063416	247	13749											
SCN2A	0	.	GRCh38	chr2	165331329	165331329	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaactttttttcttccaGaacttgaagaatccagacag	12	15	5	9	0	2	4	0	1	2	3	4	4	4	4	2	0	2	0	2	0	4	7			C3N-00294_TP	C3N-00294_NB	G	G																c.2150-1G>A		p.X717_splice	ENST00000636071		214	186	28	254	254	0	strelka-mutect	SCN2A,splice_acceptor_variant,,ENST00000636071,;SCN2A,splice_acceptor_variant,,ENST00000636985,;SCN2A,splice_acceptor_variant,,ENST00000637266,;SCN2A,splice_acceptor_variant,,ENST00000375437,NM_001040142.1;SCN2A,splice_acceptor_variant,,ENST00000283256,NM_021007.2;SCN2A,splice_acceptor_variant,,ENST00000375427,NM_001040143.1;SCN2A,splice_acceptor_variant,,ENST00000631182,;SCN2A,downstream_gene_variant,,ENST00000635945,;SCN2A,downstream_gene_variant,,ENST00000638151,;SCN2A,splice_acceptor_variant,,ENST00000480032,;SCN2A,splice_acceptor_variant,,ENST00000636662,;SCN2A,splice_acceptor_variant,,ENST00000636384,;SCN2A,splice_acceptor_variant,,ENST00000636769,;SCN2A,splice_acceptor_variant,,ENST00000636135,;SCN2A,splice_acceptor_variant,,ENST00000637367,;	A	ENST00000636071	Transcript	splice_acceptor_variant	-/9303	2150/6018	717/2005			COSM1008584,COSM1008585	1		1	SCN2A	HGNC	HGNC:10588	protein_coding	YES	CCDS33313.1	ENSP00000490107			UPI000002A663					14/27												1,1						HIGH	1	SNV			1,1	1										PASS		.	.												A	5	1	46	165331329	165331329	G	A	1	0	0	0	0	0	0	1	0	14185	956	33	3		3	SCN2A	2	165331329	Splice_Site	SNP	G	C3N-00294_TP	201216	165331329	76862200	248	13750											
SCN1A	0	.	GRCh38	chr2	166045268	166045268	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttcagatgagctgtctgaGagcctgcctgctgcactggg	6	10	14	11	0	2	3	1	2	1	2	2	4	2	3	2	1	5	4	2	1	0	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1437C>G	p.=	p.L479L	ENST00000303395	12/28	336	264	72	297	297	0	strelka-varscan-mutect	SCN1A,synonymous_variant,p.=,ENST00000635776,;SCN1A,synonymous_variant,p.=,ENST00000637988,;SCN1A,synonymous_variant,p.=,ENST00000303395,NM_001202435.1,NM_001165963.1;SCN1A,synonymous_variant,p.=,ENST00000635750,;SCN1A,synonymous_variant,p.=,ENST00000423058,;SCN1A,synonymous_variant,p.=,ENST00000375405,NM_006920.4;SCN1A,synonymous_variant,p.=,ENST00000409050,NM_001165964.1;AC010127.3,intron_variant,,ENST00000629609,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000628933,;AC010127.3,intron_variant,,ENST00000627027,;AC010127.3,intron_variant,,ENST00000630226,;AC010127.3,intron_variant,,ENST00000595268,;SCN1A,synonymous_variant,p.=,ENST00000636194,;SCN1A,3_prime_UTR_variant,,ENST00000636759,;SCN1A,non_coding_transcript_exon_variant,,ENST00000637968,;	C	ENST00000303395	Transcript	synonymous_variant	1855/8533	1437/6030	479/2009	L	ctC/ctG		1		-1	SCN1A	HGNC	HGNC:10585	protein_coding	YES	CCDS54413.1	ENSP00000303540	P35498		UPI000003C71D	NM_001202435.1,NM_001165963.1			12/28		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF220,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	46	166045268	166045268	G	C	1	0	0	0	0	0	0	0	1	14183	929	33	4		4	SCN1A	2	166045268	Silent	SNP	G	C3N-00294_TP	713939	166045268	76148261	249	13751											
SCN1A	0	.	GRCh38	chr2	166051938	166051938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagtcaggatcattacatCtgagagcttcttcacagact	12	11	7	11	0	5	2	3	1	2	2	5	4	5	3	0	1	2	1	0	1	1	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.745G>A	p.Asp249Asn	p.D249N	ENST00000303395	8/28	140	109	31	115	115	0	strelka-varscan-mutect	SCN1A,missense_variant,p.Asp249Asn,ENST00000635776,;SCN1A,missense_variant,p.Asp249Asn,ENST00000637988,;SCN1A,missense_variant,p.Asp249Asn,ENST00000303395,NM_001202435.1,NM_001165963.1;SCN1A,missense_variant,p.Asp249Asn,ENST00000635750,;SCN1A,missense_variant,p.Asp249Asn,ENST00000423058,;SCN1A,missense_variant,p.Asp249Asn,ENST00000375405,NM_006920.4;SCN1A,missense_variant,p.Asp249Asn,ENST00000409050,NM_001165964.1;AC010127.3,intron_variant,,ENST00000629609,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000628933,;AC010127.3,intron_variant,,ENST00000627027,;AC010127.3,intron_variant,,ENST00000630226,;AC010127.3,intron_variant,,ENST00000595268,;SCN1A,missense_variant,p.Asp249Asn,ENST00000636194,;SCN1A,3_prime_UTR_variant,,ENST00000636759,;SCN1A,non_coding_transcript_exon_variant,,ENST00000637968,;	T	ENST00000303395	Transcript	missense_variant	1163/8533	745/6030	249/2009	D/N	Gat/Aat		1		-1	SCN1A	HGNC	HGNC:10585	protein_coding	YES	CCDS54413.1	ENSP00000303540	P35498		UPI000003C71D	NM_001202435.1,NM_001165963.1	tolerated(0.11)		8/28		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF220,Superfamily_domains:SSF81324																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	166051938	166051938	C	T	1	0	0	0	0	1	0	0	0	14183	913	32	3		3	SCN1A	2	166051938	Missense_Mutation	SNP	C	C3N-00294_TP	6670	166051938	76141591	250	13752											
SCN9A	0	.	GRCh38	chr2	166286424	166286424	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttctgatgctgtcctctGattctgatttcgacaatttc	6	19	6	10	1	4	3	0	3	4	0	7	4	5	3	1	0	1	1	1	0	1	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1514C>G	p.Ser505Ter	p.S505*	ENST00000409672	11/27	188	163	25	185	185	0	strelka-mutect	SCN9A,stop_gained,p.Ser505Ter,ENST00000303354,;SCN9A,stop_gained,p.Ser505Ter,ENST00000409672,NM_002977.3;SCN9A,stop_gained,p.Ser505Ter,ENST00000409435,;SCN9A,stop_gained,p.Ser370Ter,ENST00000452182,;SCN9A,stop_gained,p.Ser370Ter,ENST00000454569,;AC010127.3,intron_variant,,ENST00000447809,;	C	ENST00000409672	Transcript	stop_gained	1861/9768	1514/5934	505/1977	S/*	tCa/tGa		1		-1	SCN9A	HGNC	HGNC:10597	protein_coding	YES	CCDS46441.1	ENSP00000386306	Q15858		UPI0000140AC7	NM_002977.3			11/27		Pfam_domain:PF11933																	HIGH		SNV	5			1										PASS		rs1395090262	.												C	4	2	46	166286424	166286424	G	C	1	0	0	0	0	0	1	0	0	14194	1294	45	4		4	SCN9A	2	166286424	Nonsense_Mutation	SNP	G	C3N-00294_TP	234486	166286424	75907105	251	13753											
SCN7A	0	.	GRCh38	chr2	166456930	166456930	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgaaattttggttcaatCttcttagatatttcaccaac	11	18	5	7	0	4	2	2	1	2	1	4	2	4	2	1	1	1	2	1	1	5	8	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1230G>A	p.=	p.K410K	ENST00000409855	10/25	120	106	14	175	174	1	strelka-varscan-mutect	SCN7A,synonymous_variant,p.=,ENST00000619410,;SCN7A,synonymous_variant,p.=,ENST00000621965,;SCN7A,synonymous_variant,p.=,ENST00000409855,NM_002976.3;SCN7A,synonymous_variant,p.=,ENST00000419992,;SCN7A,downstream_gene_variant,,ENST00000441411,;SCN7A,synonymous_variant,p.=,ENST00000424326,;SCN7A,downstream_gene_variant,,ENST00000497562,;	T	ENST00000409855	Transcript	synonymous_variant	1357/7183	1230/5049	410/1682	K	aaG/aaA		1		-1	SCN7A	HGNC	HGNC:10594	protein_coding	YES	CCDS46442.1	ENSP00000386796	Q01118		UPI0000209019	NM_002976.3			10/25		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14																	LOW	1	SNV	1			1										PASS		rs1194200221	.												T	2	4	46	166456930	166456930	C	T	1	0	0	0	0	0	0	0	1	14192	912	32	3		3	SCN7A	2	166456930	Silent	SNP	C	C3N-00294_TP	170506	166456930	75736599	252	13754											
XIRP2	0	.	GRCh38	chr2	167242606	167242606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagactttcaagccatcatCagttgtgagtacctcttcca	11	12	7	11	0	4	2	3	1	1	1	5	3	5	2	3	0	2	2	3	0	2	4			C3N-00294_TP	C3N-00294_NB	C	C																c.1214C>T	p.Ser405Leu	p.S405L	ENST00000409195	9/11	86	73	13	98	98	0	strelka-varscan-mutect	XIRP2,missense_variant,p.Ser405Leu,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Ser183Leu,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Ser230Leu,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;	T	ENST00000409195	Transcript	missense_variant	1303/12675	1214/10650	405/3549	S/L	tCa/tTa	COSM1528900	1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious(0.03)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	46	167242606	167242606	C	T	1	0	0	0	0	1	0	0	0	17989	838	29	3		3	XIRP2	2	167242606	Missense_Mutation	SNP	C	C3N-00294_TP	785676	167242606	74950923	253	13755											
XIRP2	0	.	GRCh38	chr2	167243977	167243977	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttcctgatgcagattctcTacaacgtgaggagataatag	13	11	10	7	1	1	4	0	2	1	2	3	5	2	4	1	1	3	2	1	1	4	5	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.2585T>C	p.Leu862Pro	p.L862P	ENST00000409195	9/11	158	65	93	192	192	0	strelka-varscan-mutect	XIRP2,missense_variant,p.Leu862Pro,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Leu640Pro,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Leu687Pro,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	C	ENST00000409195	Transcript	missense_variant	2674/12675	2585/10650	862/3549	L/P	cTa/cCa		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	tolerated(0.07)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	46	167243977	167243977	T	C	1	0	0	0	0	1	0	0	0	17989	1522	53	5		5	XIRP2	2	167243977	Missense_Mutation	SNP	T	C3N-00294_TP	1371	167243977	74949552	254	13756											
B3GALT1	0	.	GRCh38	chr2	167869307	167869307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcatcagcaccactcacaagGaatttgatgcccgtcaggca	12	8	8	13	1	4	1	4	1	0	0	4	2	4	2	2	2	2	2	2	2	2	1			C3N-00294_TP	C3N-00294_NB	G	G																c.268G>A	p.Glu90Lys	p.E90K	ENST00000392690	1/1	164	136	28	137	137	0	strelka-varscan-mutect	B3GALT1,missense_variant,p.Glu90Lys,ENST00000392690,NM_020981.3;AC016723.4,intron_variant,,ENST00000436982,;AC016723.4,intron_variant,,ENST00000430546,;	A	ENST00000392690	Transcript	missense_variant	360/5094	268/981	90/326	E/K	Gaa/Aaa	COSM3314428	1		1	B3GALT1	HGNC	HGNC:916	protein_coding	YES	CCDS2227.1	ENSP00000376456	Q9Y5Z6		UPI00000255A2	NM_020981.3	deleterious(0.04)		1/1		hmmpanther:PTHR11214:SF20,hmmpanther:PTHR11214											1						MODERATE		SNV			1	1										PASS		.	.												A	3	1	46	167869307	167869307	G	A	1	0	0	0	0	1	0	0	0	1404	1175	41	3		3	B3GALT1	2	167869307	Missense_Mutation	SNP	G	C3N-00294_TP	625330	167869307	74324222	255	13757											
UBR3	0	.	GRCh38	chr2	169927372	169927372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtagcccagctgtgtatGaatgacaggacacacagttc	12	9	11	9	0	0	2	0	2	0	0	1	3	0	3	1	2	2	4	1	2	3	3			C3N-00294_TP	C3N-00294_NB	G	G																c.2391G>A	p.Met797Ile	p.M797I	ENST00000418381	17/39	178	162	16	168	168	0	strelka-varscan-mutect	UBR3,missense_variant,p.Met797Ile,ENST00000272793,;UBR3,missense_variant,p.Met797Ile,ENST00000418381,NM_172070.3;UBR3,upstream_gene_variant,,ENST00000430321,;	A	ENST00000418381	Transcript	missense_variant	2391/7951	2391/5667	797/1888	M/I	atG/atA	COSM1009384	1		1	UBR3	HGNC	HGNC:30467	protein_coding	YES	CCDS2238.2	ENSP00000396068	Q6ZT12		UPI00015FA088	NM_172070.3	deleterious(0.01)		17/39		hmmpanther:PTHR21497											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	46	169927372	169927372	G	A	1	0	0	0	0	1	0	0	0	17427	1290	45	3		3	UBR3	2	169927372	Missense_Mutation	SNP	G	C3N-00294_TP	2058065	169927372	72266157	256	13758											
MYO3B	0	.	GRCh38	chr2	170214456	170214456	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggttggatgaagcaatgatCtcatacatcttgtacggggc	10	11	12	8	2	2	2	1	2	2	0	3	3	2	3	0	4	3	3	0	4	4	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.399C>T	p.=	p.I133I	ENST00000408978	4/35	319	284	35	290	290	0	strelka-varscan-mutect	MYO3B,synonymous_variant,p.=,ENST00000408978,NM_138995.4;MYO3B,synonymous_variant,p.=,ENST00000409044,NM_001083615.3;MYO3B,synonymous_variant,p.=,ENST00000484338,;MYO3B,synonymous_variant,p.=,ENST00000442690,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,synonymous_variant,p.=,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	T	ENST00000408978	Transcript	synonymous_variant	542/5529	399/4026	133/1341	I	atC/atT		1		1	MYO3B	HGNC	HGNC:15576	protein_coding	YES	CCDS42773.1	ENSP00000386213	Q8WXR4		UPI000020907B	NM_138995.4			4/35		PROSITE_profiles:PS50011,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	170214456	170214456	C	T	1	0	0	0	0	0	0	0	1	10078	903	32	3		3	MYO3B	2	170214456	Silent	SNP	C	C3N-00294_TP	287084	170214456	71979073	257	13759											
SCRN3	0	.	GRCh38	chr2	174424545	174424545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataccagttcaccaacatttGaacttgaagatctagttaaa	16	12	5	8	0	2	3	1	2	1	1	2	3	2	3	2	0	3	2	2	0	7	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.988G>C	p.Glu330Gln	p.E330Q	ENST00000272732	7/8	74	65	9	95	95	0	strelka-varscan-mutect	SCRN3,missense_variant,p.Glu330Gln,ENST00000272732,NM_024583.4;SCRN3,missense_variant,p.Glu323Gln,ENST00000409673,NM_001193528.1;SCRN3,non_coding_transcript_exon_variant,,ENST00000548921,;SCRN3,non_coding_transcript_exon_variant,,ENST00000549848,;SCRN3,non_coding_transcript_exon_variant,,ENST00000490927,;SCRN3,non_coding_transcript_exon_variant,,ENST00000475928,;SCRN3,3_prime_UTR_variant,,ENST00000548868,;SCRN3,3_prime_UTR_variant,,ENST00000437944,;	C	ENST00000272732	Transcript	missense_variant	1070/3037	988/1275	330/424	E/Q	Gaa/Caa		1		1	SCRN3	HGNC	HGNC:30382	protein_coding	YES	CCDS2258.1	ENSP00000272732	Q0VDG4		UPI00002090F8	NM_024583.4	deleterious(0.03)		7/8		hmmpanther:PTHR12994,hmmpanther:PTHR12994:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	174424545	174424545	G	C	1	0	0	0	0	1	0	0	0	14210	1291	45	4		4	SCRN3	2	174424545	Missense_Mutation	SNP	G	C3N-00294_TP	4210089	174424545	67768984	258	13760											
PLEKHA3	0	.	GRCh38	chr2	178493976	178493976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatgatgagaatcattcatCtcctagtgcagaggtagagc	12	10	10	9	0	3	4	2	2	1	3	4	5	3	4	2	1	2	2	2	1	3	3	rs140472356		C3N-00294_TP	C3N-00294_NB	C	C																c.437C>G	p.Ser146Cys	p.S146C	ENST00000234453	4/8	115	95	20	108	108	0	strelka-varscan-mutect	PLEKHA3,missense_variant,p.Ser146Cys,ENST00000234453,NM_019091.3;PLEKHA3,upstream_gene_variant,,ENST00000421187,;PLEKHA3,non_coding_transcript_exon_variant,,ENST00000461474,;PLEKHA3,3_prime_UTR_variant,,ENST00000453653,;	G	ENST00000234453	Transcript	missense_variant	839/13880	437/903	146/300	S/C	tCt/tGt	rs140472356	1		1	PLEKHA3	HGNC	HGNC:14338	protein_coding	YES	CCDS33336.1	ENSP00000234453	Q9HB20		UPI000000DA8A	NM_019091.3	deleterious(0.03)		4/8		hmmpanther:PTHR10219,hmmpanther:PTHR10219:SF25																	MODERATE	1	SNV	1			1										PASS		rs140472356	.												G	3	3	46	178493976	178493976	C	G	1	0	0	0	0	1	0	0	0	12150	913	32	4		4	PLEKHA3	2	178493976	Missense_Mutation	SNP	C	C3N-00294_TP	4069431	178493976	63699553	259	13761											
TTN	0	.	GRCh38	chr2	178575958	178575958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaaatgattccgtattttCaatgttggctcggtttttca	9	18	8	6	2	2	1	2	1	0	0	4	1	3	1	1	2	0	5	1	2	4	8	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.70174G>A	p.Glu23392Lys	p.E23392K	ENST00000589042	326/363	92	74	18	70	70	0	strelka-varscan-mutect	TTN,missense_variant,p.Glu23392Lys,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Glu21751Lys,ENST00000591111,;TTN,missense_variant,p.Glu21751Lys,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Glu20824Lys,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Glu14327Lys,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Glu14519Lys,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Glu14452Lys,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-171I2.2,upstream_gene_variant,,ENST00000603521,;RP11-171I2.5,upstream_gene_variant,,ENST00000604215,;	T	ENST00000589042	Transcript	missense_variant	70399/109224	70174/107976	23392/35991	E/K	Gaa/Aaa		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			326/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	46	178575958	178575958	C	T	1	0	0	0	0	1	0	0	0	17245	835	29	3		3	TTN	2	178575958	Missense_Mutation	SNP	C	C3N-00294_TP	81982	178575958	63617571	260	13762											
TTN	0	.	GRCh38	chr2	178672092	178672092	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatgttgttctaatttgatGaattcttctacttcatgaaa	11	19	5	6	0	4	3	1	3	3	0	4	3	4	3	0	0	1	2	0	0	5	9	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.35106C>T	p.=	p.F11702F	ENST00000589042	155/363	176	151	25	259	259	0	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,synonymous_variant,p.=,ENST00000448510,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN,upstream_gene_variant,,ENST00000425332,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;	A	ENST00000589042	Transcript	synonymous_variant	35331/109224	35106/107976	11702/35991	F	ttC/ttT		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			155/363		Low_complexity_(Seg):seg,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	46	178672092	178672092	G	A	1	0	0	0	0	0	0	0	1	17245	1281	45	3		3	TTN	2	178672092	Silent	SNP	G	C3N-00294_TP	96134	178672092	63521437	261	13763											
TTN	0	.	GRCh38	chr2	178721015	178721015	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcagcactagcttcattGatcgtaagcaatgccacaga	12	11	7	11	1	3	2	2	1	1	1	4	2	3	2	1	0	4	4	1	0	3	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.23004C>T	p.=	p.I7668I	ENST00000589042	79/363	193	163	30	185	185	0	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,;	A	ENST00000589042	Transcript	synonymous_variant	23229/109224	23004/107976	7668/35991	I	atC/atT		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			79/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	46	178721015	178721015	G	A	1	0	0	0	0	0	0	0	1	17245	1280	45	3		3	TTN	2	178721015	Silent	SNP	G	C3N-00294_TP	48923	178721015	63472514	262	13764											
TTN	0	.	GRCh38	chr2	178740479	178740479	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtgcctcttgcttttgaaGagtcactctttgctctctgt	4	19	8	10	0	4	2	1	1	3	1	5	2	4	2	1	0	3	2	1	0	1	5			C3N-00294_TP	C3N-00294_NB	G	G																c.12754C>G	p.Leu4252Val	p.L4252V	ENST00000589042	48/363	107	91	16	106	106	0	strelka-varscan-mutect	TTN,missense_variant,p.Leu4252Val,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Leu3935Val,ENST00000591111,;TTN,missense_variant,p.Leu3935Val,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Leu3889Val,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Leu4081Val,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Leu4014Val,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,downstream_gene_variant,,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000582847,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000627661,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000631319,;TTN-AS1,upstream_gene_variant,,ENST00000578746,;TTN-AS1,downstream_gene_variant,,ENST00000625480,;	C	ENST00000589042	Transcript	missense_variant	12979/109224	12754/107976	4252/35991	L/V	Ctt/Gtt	COSM1306150,COSM4810808	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			48/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												C	3	2	46	178740479	178740479	G	C	1	0	0	0	0	1	0	0	0	17245	942	33	4		4	TTN	2	178740479	Missense_Mutation	SNP	G	C3N-00294_TP	19464	178740479	63453050	263	13765											
TTN	0	.	GRCh38	chr2	178789471	178789471	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaactgctattgtagacaaGgcagttttctcggcttcctt	8	14	9	10	1	1	1	0	0	1	1	3	1	2	1	1	2	2	6	1	2	4	7	rs760757049		C3N-00294_TP	C3N-00294_NB	G	G																c.1965C>G	p.=	p.A655A	ENST00000589042	13/363	276	231	45	308	308	0	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.4;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN,synonymous_variant,p.=,ENST00000360870,NM_133379.4;TTN,synonymous_variant,p.=,ENST00000436599,;	C	ENST00000589042	Transcript	synonymous_variant	2190/109224	1965/107976	655/35991	A	gcC/gcG	rs760757049	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			13/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF09042																	LOW	1	SNV	5			1										PASS		rs760757049	.												C	2	2	46	178789471	178789471	G	C	1	0	0	0	0	0	0	0	1	17245	987	35	4		4	TTN	2	178789471	Silent	SNP	G	C3N-00294_TP	48992	178789471	63404058	264	13766											
CWC22	0	.	GRCh38	chr2	179981998	179981998	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttttctcggtccctgtttCtgtaatataaattttttgaa	8	21	6	6	1	2	1	0	1	2	0	4	1	3	1	1	1	0	3	1	1	5	9	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.207-1G>A		p.X69_splice	ENST00000410053		167	134	33	153	153	0	strelka-varscan-mutect	CWC22,splice_acceptor_variant,,ENST00000410053,NM_020943.2;CWC22,splice_acceptor_variant,,ENST00000404136,;	T	ENST00000410053	Transcript	splice_acceptor_variant	-/3280	207/2727	69/908				1		-1	CWC22	HGNC	HGNC:29322	protein_coding	YES	CCDS46465.1	ENSP00000387006	Q9HCG8		UPI00001C1DAE	NM_020943.2				4/19																		HIGH	1	SNV	1			1										PASS		rs1224611762	.												T	5	4	46	179981998	179981998	C	T	1	0	0	0	0	0	0	1	0	3878	927	32	3		3	CWC22	2	179981998	Splice_Site	SNP	C	C3N-00294_TP	1192527	179981998	62211531	265	13767											
FSIP2	0	.	GRCh38	chr2	185804187	185804187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagctcttatgcaaaattCtttatgcattttcacataac	12	16	4	9	0	3	1	1	1	2	0	3	1	3	1	0	0	4	3	0	0	5	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.15148C>G	p.Leu5050Val	p.L5050V	ENST00000343098	17/23	30	23	7	57	57	0	strelka-varscan-mutect	FSIP2,missense_variant,p.Leu5050Val,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Leu4961Val,ENST00000424728,;FSIP2,upstream_gene_variant,,ENST00000611759,;FSIP2-AS1,upstream_gene_variant,,ENST00000436557,;FSIP2-AS1,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;	G	ENST00000343098	Transcript	missense_variant	15148/21054	15148/20991	5050/6996	L/V	Ctt/Gtt		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	deleterious(0)		17/23		Pfam_domain:PF15783,hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE		SNV	5			1										PASS		rs962101664	.												G	3	3	46	185804187	185804187	C	G	1	0	0	0	0	1	0	0	0	5949	913	32	4		4	FSIP2	2	185804187	Missense_Mutation	SNP	C	C3N-00294_TP	5822189	185804187	56389342	266	13768											
ANKAR	0	.	GRCh38	chr2	189695018	189695018	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaactagaaactttctatCagcaactatataagacacag	17	11	5	8	0	2	3	1	1	1	2	2	3	2	3	0	0	4	1	0	0	8	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1345C>T	p.Gln449Ter	p.Q449*	ENST00000520309	6/23	43	35	8	68	68	0	strelka-varscan-mutect	ANKAR,stop_gained,p.Gln449Ter,ENST00000520309,NM_144708.3;ANKAR,stop_gained,p.Gln449Ter,ENST00000313581,;ANKAR,intron_variant,,ENST00000461516,;ANKAR,upstream_gene_variant,,ENST00000464687,;ANKAR,stop_gained,p.Gln378Ter,ENST00000433782,;ANKAR,stop_gained,p.Gln213Ter,ENST00000441800,;ANKAR,downstream_gene_variant,,ENST00000467927,;	T	ENST00000520309	Transcript	stop_gained	1433/4410	1345/4305	449/1434	Q/*	Cag/Tag		1		1	ANKAR	HGNC	HGNC:26350	protein_coding	YES	CCDS33351.2	ENSP00000427882	Q7Z5J8		UPI00001D7E11	NM_144708.3			6/23		hmmpanther:PTHR23315:SF84,hmmpanther:PTHR23315																	HIGH	1	SNV	5			1										PASS		rs1313078138	.												T	4	4	46	189695018	189695018	C	T	1	0	0	0	0	0	1	0	0	723	827	29	3		3	ANKAR	2	189695018	Nonsense_Mutation	SNP	C	C3N-00294_TP	3890831	189695018	52498511	267	13769											
ANKAR	0	.	GRCh38	chr2	189705034	189705034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccattctaggtccaacacctCtacaccttgctgcacaggct	9	10	6	16	0	2	0	0	0	2	0	3	0	3	0	4	2	4	3	4	2	3	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1720C>G	p.Leu574Val	p.L574V	ENST00000520309	8/23	185	148	37	143	143	0	strelka-varscan-mutect	ANKAR,missense_variant,p.Leu574Val,ENST00000520309,NM_144708.3;ANKAR,missense_variant,p.Leu574Val,ENST00000313581,;ANKAR,intron_variant,,ENST00000464687,;ANKAR,missense_variant,p.Leu503Val,ENST00000433782,;ANKAR,missense_variant,p.Leu338Val,ENST00000441800,;	G	ENST00000520309	Transcript	missense_variant	1808/4410	1720/4305	574/1434	L/V	Cta/Gta		1		1	ANKAR	HGNC	HGNC:26350	protein_coding	YES	CCDS33351.2	ENSP00000427882	Q7Z5J8		UPI00001D7E11	NM_144708.3	deleterious(0)		8/23		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR23315:SF84,hmmpanther:PTHR23315,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	46	189705034	189705034	C	G	1	0	0	0	0	1	0	0	0	723	912	32	4		4	ANKAR	2	189705034	Missense_Mutation	SNP	C	C3N-00294_TP	10016	189705034	52488495	268	13770											
STAT1	0	.	GRCh38	chr2	191009071	191009071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacaggaggtcatgaaaacgGatggtggcaaatgaaacatc	16	6	13	6	1	1	2	1	2	0	0	2	5	1	4	0	5	2	1	0	5	4	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.165C>T	p.=	p.I55I	ENST00000361099	4/25	435	372	63	355	355	0	strelka-varscan-mutect	STAT1,synonymous_variant,p.=,ENST00000361099,NM_007315.3;STAT1,synonymous_variant,p.=,ENST00000540176,;STAT1,synonymous_variant,p.=,ENST00000409465,;STAT1,synonymous_variant,p.=,ENST00000392323,;STAT1,synonymous_variant,p.=,ENST00000392322,NM_139266.2;STAT1,synonymous_variant,p.=,ENST00000424722,;STAT1,synonymous_variant,p.=,ENST00000454414,;STAT1,synonymous_variant,p.=,ENST00000432058,;STAT1,synonymous_variant,p.=,ENST00000452281,;	A	ENST00000361099	Transcript	synonymous_variant	553/4310	165/2253	55/750	I	atC/atT		1		-1	STAT1	HGNC	HGNC:11362	protein_coding	YES	CCDS2309.1	ENSP00000354394	P42224		UPI00000473FB	NM_007315.3			4/25		hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF18,Gene3D:1bgfA00,Pfam_domain:PF02865,SMART_domains:SM00964,Superfamily_domains:0035539																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	191009071	191009071	G	A	1	0	0	0	0	0	0	0	1	15640	1164	41	3		3	STAT1	2	191009071	Silent	SNP	G	C3N-00294_TP	1304037	191009071	51184458	269	13771											
SF3B1	0	.	GRCh38	chr2	197402629	197402629	+	Silent	SNP	T	T	A																															ataagaatagctatctgttgTacaatcttaataccagtgtg																								rs764419493		C3N-00294_TP	C3N-00294_NB	T	T																c.2004A>T	p.=	p.V668V	ENST00000335508	14/25	321	168	153	296	296	0	strelka-varscan-mutect	SF3B1,synonymous_variant,p.=,ENST00000335508,NM_012433.2;SF3B1,upstream_gene_variant,,ENST00000424674,;SNORA4,upstream_gene_variant,,ENST00000365564,;SF3B1,upstream_gene_variant,,ENST00000462613,;SF3B1,upstream_gene_variant,,ENST00000496458,;	A	ENST00000335508	Transcript	synonymous_variant	2096/6526	2004/3915	668/1304	V	gtA/gtT	rs764419493	1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2			14/25		hmmpanther:PTHR12097,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		rs764419493	.												A	2	1	46	197402629	197402629	T	A	1	0	0	0	0	0	0	0	1	14428	1625	57	4		4	SF3B1	2	197402629	Silent	SNP	T	C3N-00294_TP	6393558	197402629	44790900	270	13772	312	2									
SF3B1	0	.	GRCh38	chr2	197402635	197402635	+	Missense_Mutation	SNP	C	C	A																															atagctatctgttgtacaatCttaataccagtgtgtctcgc																								rs377023736		C3N-00294_TP	C3N-00294_NB	C	C																c.1998G>T	p.Lys666Asn	p.K666N	ENST00000335508	14/25	343	278	65	319	319	0	strelka-varscan-mutect	SF3B1,missense_variant,p.Lys666Asn,ENST00000335508,NM_012433.2;SF3B1,upstream_gene_variant,,ENST00000424674,;SNORA4,upstream_gene_variant,,ENST00000365564,;SF3B1,upstream_gene_variant,,ENST00000462613,;SF3B1,upstream_gene_variant,,ENST00000496458,;	A	ENST00000335508	Transcript	missense_variant	2090/6526	1998/3915	666/1304	K/N	aaG/aaT	rs377023736,COSM131557,COSM132937	1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)		14/25		hmmpanther:PTHR12097,Gene3D:1.25.10.10,Superfamily_domains:SSF48371										pathogenic	0,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs377023736	.												A	3	1	46	197402635	197402635	C	A	1	0	0	0	0	1	0	0	0	14428	912	32	2		2	SF3B1	2	197402635	Missense_Mutation	SNP	C	C3N-00294_TP	6	197402635	44790894	271	13773	312	2									
HSPD1	0	.	GRCh38	chr2	197489205	197489205	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcctaagtcatgaggctGaacgtcttcaagattcaggg	10	13	10	8	1	4	3	3	2	1	1	5	3	5	3	1	2	1	1	1	2	3	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1012C>G	p.Gln338Glu	p.Q338E	ENST00000388968	9/12	338	282	56	327	327	0	strelka-varscan-mutect	HSPD1,missense_variant,p.Gln338Glu,ENST00000388968,NM_002156.4;HSPD1,missense_variant,p.Gln338Glu,ENST00000345042,NM_199440.1;HSPD1,downstream_gene_variant,,ENST00000452200,;HSPD1,downstream_gene_variant,,ENST00000430176,;HSPD1,non_coding_transcript_exon_variant,,ENST00000491249,;HSPD1,downstream_gene_variant,,ENST00000486181,;HSPD1,downstream_gene_variant,,ENST00000482167,;	C	ENST00000388968	Transcript	missense_variant	1280/2455	1012/1722	338/573	Q/E	Cag/Gag		1		-1	HSPD1	HGNC	HGNC:5261	protein_coding	YES	CCDS33357.1	ENSP00000373620	P10809	A0A024R3X4	UPI0000042366	NM_002156.4	tolerated(0.41)		9/12		Gene3D:3.50.7.10,HAMAP:MF_00600,Pfam_domain:PF00118,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF64,Superfamily_domains:SSF52029,TIGRFAM_domain:TIGR02348																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	197489205	197489205	G	C	1	0	0	0	0	1	0	0	0	7324	1299	45	4		4	HSPD1	2	197489205	Missense_Mutation	SNP	G	C3N-00294_TP	86570	197489205	44704324	272	13774											
C2orf69	0	.	GRCh38	chr2	199925552	199925552	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttttgaatcagttgctttTtgaattgaaagaagccaaga	13	15	9	4	0	1	5	1	3	0	2	1	5	1	5	1	0	2	3	1	0	5	6	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.824T>A	p.Phe275Tyr	p.F275Y	ENST00000319974	2/2	157	138	19	164	164	0	strelka-varscan-mutect	C2orf69,missense_variant,p.Phe275Tyr,ENST00000319974,NM_153689.5;TYW5,downstream_gene_variant,,ENST00000354611,NM_001039693.2;C2orf69,intron_variant,,ENST00000491721,;TYW5,downstream_gene_variant,,ENST00000483328,;	A	ENST00000319974	Transcript	missense_variant	1007/3728	824/1158	275/385	F/Y	tTt/tAt		1		1	C2orf69	HGNC	HGNC:26799	protein_coding	YES	CCDS46482.1	ENSP00000312770	Q8N8R5		UPI0000073170	NM_153689.5	tolerated(1)		2/2		hmmpanther:PTHR31296:SF1,hmmpanther:PTHR31296,Pfam_domain:PF10561																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	199925552	199925552	T	A	1	0	0	0	0	1	0	0	0	2043	1841	64	4		4	C2orf69	2	199925552	Missense_Mutation	SNP	T	C3N-00294_TP	2436347	199925552	42267977	273	13775											
FAM126B	0	.	GRCh38	chr2	200997519	200997519	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaattataacacagcatGagaaaactcaggacttcaaa	19	7	7	8	0	2	2	2	1	0	2	2	4	2	3	0	1	3	2	0	1	6	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.552C>A	p.=	p.L184L	ENST00000418596	8/12	120	110	10	135	135	0	strelka-varscan-mutect	FAM126B,synonymous_variant,p.=,ENST00000418596,NM_001321619.1,NM_001321629.1,NM_001321618.1,NM_001321622.1,NM_001321621.1,NM_173822.3;FAM126B,synonymous_variant,p.=,ENST00000452799,;AC005037.3,intron_variant,,ENST00000413848,;FAM126B,3_prime_UTR_variant,,ENST00000286181,;FAM126B,non_coding_transcript_exon_variant,,ENST00000498780,;FAM126B,non_coding_transcript_exon_variant,,ENST00000490725,;	T	ENST00000418596	Transcript	synonymous_variant	740/9333	552/1593	184/530	L	ctC/ctA		1		-1	FAM126B	HGNC	HGNC:28593	protein_coding	YES	CCDS2335.1	ENSP00000393667	Q8IXS8		UPI0000074347	NM_001321619.1,NM_001321629.1,NM_001321618.1,NM_001321622.1,NM_001321621.1,NM_173822.3			8/12		Pfam_domain:PF09790,hmmpanther:PTHR31220,hmmpanther:PTHR31220:SF3																	LOW	1	SNV	1			1										PASS		rs926731753	.												T	2	4	46	200997519	200997519	G	T	1	0	0	0	0	0	0	0	1	5282	1277	45	2		2	FAM126B	2	200997519	Silent	SNP	G	C3N-00294_TP	1071967	200997519	41196010	274	13776											
ABI2	0	.	GRCh38	chr2	203417000	203417000	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccagaagattacgaagagGaggaagctgctgtggttgag	12	8	15	6	1	0	4	0	1	0	3	1	7	1	6	1	3	3	3	1	3	4	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1285G>T	p.Glu429Ter	p.E429*	ENST00000295851	10/11	212	182	30	164	164	0	strelka-varscan-mutect	ABI2,stop_gained,p.Glu429Ter,ENST00000295851,;ABI2,stop_gained,p.Glu429Ter,ENST00000261018,NM_001282925.1;ABI2,stop_gained,p.Glu306Ter,ENST00000261016,NM_001282932.1,NM_001282927.1;ABI2,stop_gained,p.Glu391Ter,ENST00000261017,NM_005759.5;ABI2,stop_gained,p.Glu396Ter,ENST00000422511,;ABI2,stop_gained,p.Glu423Ter,ENST00000424558,NM_001282926.1;ABI2,stop_gained,p.Glu374Ter,ENST00000430418,;ABI2,stop_gained,p.Glu429Ter,ENST00000417864,;ABI2,stop_gained,p.Glu209Ter,ENST00000454023,;RAPH1,intron_variant,,ENST00000457812,;ABI2,non_coding_transcript_exon_variant,,ENST00000464761,;ABI2,non_coding_transcript_exon_variant,,ENST00000416396,;ABI2,downstream_gene_variant,,ENST00000430574,;ABI2,downstream_gene_variant,,ENST00000422719,;ABI2,3_prime_UTR_variant,,ENST00000441061,;ABI2,3_prime_UTR_variant,,ENST00000416001,;	T	ENST00000295851	Transcript	stop_gained	1581/22209	1285/1542	429/513	E/*	Gag/Tag		1		1	ABI2	HGNC	HGNC:24011	protein_coding	YES	CCDS63093.1	ENSP00000295851		F8WAL6	UPI000013D12C				10/11		Low_complexity_(Seg):seg,hmmpanther:PTHR10460,hmmpanther:PTHR10460:SF3																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	46	203417000	203417000	G	T	1	0	0	0	0	0	1	0	0	99	1175	41	2		2	ABI2	2	203417000	Nonsense_Mutation	SNP	G	C3N-00294_TP	2419481	203417000	38776529	275	13777											
NDUFS1	0	.	GRCh38	chr2	206142774	206142774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgagagctaccagggcttCagcatccaccaagccacctg	10	8	9	14	0	1	1	1	1	0	1	2	2	2	1	5	1	4	3	5	1	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1087G>A	p.Glu363Lys	p.E363K	ENST00000455934	11/19	348	304	44	297	297	0	strelka-varscan-mutect	NDUFS1,missense_variant,p.Glu349Lys,ENST00000233190,NM_005006.6;NDUFS1,missense_variant,p.Glu363Lys,ENST00000455934,NM_001199984.1;NDUFS1,missense_variant,p.Glu292Lys,ENST00000423725,NM_001199983.1;NDUFS1,missense_variant,p.Glu313Lys,ENST00000440274,NM_001199981.1;NDUFS1,missense_variant,p.Glu349Lys,ENST00000449699,;NDUFS1,missense_variant,p.Glu233Lys,ENST00000457011,;NDUFS1,missense_variant,p.Glu238Lys,ENST00000432169,NM_001199982.1;NDUFS1,downstream_gene_variant,,ENST00000456284,;	T	ENST00000455934	Transcript	missense_variant	1148/3361	1087/2226	363/741	E/K	Gaa/Aaa		1		-1	NDUFS1	HGNC	HGNC:7707	protein_coding	YES	CCDS56165.1	ENSP00000392709	P28331		UPI0000EE3600	NM_001199984.1	deleterious(0)		11/19		Gene3D:3.40.50.740,Pfam_domain:PF00384,TIGRFAM_domain:TIGR01973,Superfamily_domains:SSF53706																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	46	206142774	206142774	C	T	1	0	0	0	0	1	0	0	0	10315	835	29	3		3	NDUFS1	2	206142774	Missense_Mutation	SNP	C	C3N-00294_TP	2725774	206142774	36050755	276	13778											
CCNYL1	0	.	GRCh38	chr2	207712016	207712016	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggtgtccggggacgcGgtggcggtagcgcccgctgt	3	6	21	11	7	0	0	0	0	0	0	1	2	1	1	2	7	1	2	2	7	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.120G>T	p.=	p.A40A	ENST00000339882	1/8	36	30	6	28	28	0	strelka-varscan-mutect	CCNYL1,synonymous_variant,p.=,ENST00000295414,;CCNYL1,synonymous_variant,p.=,ENST00000339882,NM_001142300.1;CCNYL1,synonymous_variant,p.=,ENST00000420822,;CCNYL1,5_prime_UTR_variant,,ENST00000392209,NM_152523.2;CCNYL1,upstream_gene_variant,,ENST00000452312,;	T	ENST00000339882	Transcript	synonymous_variant	266/2619	120/927	40/308	A	gcG/gcT		1		1	CCNYL1	HGNC	HGNC:26868	protein_coding	YES	CCDS46503.1	ENSP00000342344	Q8N7R7		UPI000020946B	NM_001142300.1			1/8		Low_complexity_(Seg):seg,hmmpanther:PTHR14248,hmmpanther:PTHR14248:SF27																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	207712016	207712016	G	T	1	0	0	0	0	0	0	0	1	2636	1103	39	1		1	CCNYL1	2	207712016	Silent	SNP	G	C3N-00294_TP	1569242	207712016	34481513	277	13779											
CPS1	0	.	GRCh38	chr2	210656574	210656574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagatgcaggtgtccactCgggagatgccactctgatgc	9	9	13	10	1	1	4	0	2	1	2	3	5	2	4	2	2	3	1	2	2	1	0	rs149518280		C3N-00294_TP	C3N-00294_NB	C	C																c.3626C>T	p.Ser1209Leu	p.S1209L	ENST00000430249	31/39	366	318	48	317	317	0	strelka-varscan-mutect	CPS1,missense_variant,p.Ser1203Leu,ENST00000233072,NM_001875.4;CPS1,missense_variant,p.Ser1209Leu,ENST00000430249,NM_001122633.2;CPS1,missense_variant,p.Ser752Leu,ENST00000451903,NM_001122634.3;CPS1,upstream_gene_variant,,ENST00000470791,;	T	ENST00000430249	Transcript	missense_variant	3681/5698	3626/4521	1209/1506	S/L	tCg/tTg	rs149518280,CM114379,COSM1202194,COSM1202195	1		1	CPS1	HGNC	HGNC:2323	protein_coding	YES	CCDS46505.1	ENSP00000402608	P31327		UPI000166C19F	NM_001122633.2	deleterious(0)		31/39		PROSITE_profiles:PS50975,hmmpanther:PTHR11405:SF38,hmmpanther:PTHR11405,TIGRFAM_domain:TIGR01369,Pfam_domain:PF02786,Gene3D:3.30.470.20,Superfamily_domains:SSF56059											0,0,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs149518280	.												T	3	4	46	210656574	210656574	C	T	1	0	0	0	0	1	0	0	0	3619	893	31	1		1	CPS1	2	210656574	Missense_Mutation	SNP	C	C3N-00294_TP	2944558	210656574	31536955	278	13780											
IKZF2	0	.	GRCh38	chr2	213008008	213008008	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatcatatgagactgcatCagctcagcctccttctcata	10	12	5	14	0	4	1	4	1	1	1	7	2	6	1	3	0	3	2	3	0	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.933G>A	p.=	p.L311L	ENST00000434687	9/9	237	201	36	156	156	0	strelka-varscan-mutect	IKZF2,synonymous_variant,p.=,ENST00000457361,;IKZF2,synonymous_variant,p.=,ENST00000451136,;IKZF2,synonymous_variant,p.=,ENST00000434687,NM_016260.2;IKZF2,synonymous_variant,p.=,ENST00000342002,;IKZF2,synonymous_variant,p.=,ENST00000374319,NM_001079526.1;AC079610.1,intron_variant,,ENST00000415387,;IKZF2,3_prime_UTR_variant,,ENST00000431520,;IKZF2,3_prime_UTR_variant,,ENST00000439848,;IKZF2,3_prime_UTR_variant,,ENST00000412444,;IKZF2,3_prime_UTR_variant,,ENST00000453575,;IKZF2,3_prime_UTR_variant,,ENST00000374326,;IKZF2,non_coding_transcript_exon_variant,,ENST00000484040,;	T	ENST00000434687	Transcript	synonymous_variant	1243/3888	933/1581	311/526	L	ctG/ctA		1		-1	IKZF2	HGNC	HGNC:13177	protein_coding	YES	CCDS2395.1	ENSP00000412869	Q9UKS7		UPI000013D4DA	NM_016260.2			9/9		hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF33																	LOW		SNV	5			1										PASS		.	.												T	2	4	46	213008008	213008008	C	T	1	0	0	0	0	0	0	0	1	7523	813	29	3		3	IKZF2	2	213008008	Silent	SNP	C	C3N-00294_TP	2351434	213008008	29185521	279	13781											
ABCA12	0	.	GRCh38	chr2	215011577	215011577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atattcagtggtaattccttGagaacataatgcttgggaga	13	13	10	5	0	1	2	1	1	0	2	2	4	2	2	1	2	2	2	1	2	4	7			C3N-00294_TP	C3N-00294_NB	G	G																c.2194C>G	p.Gln732Glu	p.Q732E	ENST00000272895	17/53	440	376	64	403	403	0	strelka-varscan-mutect	ABCA12,missense_variant,p.Gln732Glu,ENST00000272895,NM_173076.2;ABCA12,missense_variant,p.Gln414Glu,ENST00000389661,NM_015657.3;AC072062.3,intron_variant,,ENST00000617699,;AC072062.3,upstream_gene_variant,,ENST00000611187,;AC072062.3,upstream_gene_variant,,ENST00000627811,;	C	ENST00000272895	Transcript	missense_variant	2414/9100	2194/7788	732/2595	Q/E	Caa/Gaa	COSM5193476,COSM5193477	1		-1	ABCA12	HGNC	HGNC:14637	protein_coding	YES	CCDS33372.1	ENSP00000272895	Q86UK0		UPI000019AB7A	NM_173076.2	tolerated(0.35)		17/53		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF29											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	46	215011577	215011577	G	C	1	0	0	0	0	1	0	0	0	34	1299	45	4		4	ABCA12	2	215011577	Missense_Mutation	SNP	G	C3N-00294_TP	2003569	215011577	27181952	280	13782											
PLCD4	0	.	GRCh38	chr2	218618793	218618793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccagcatggaccatcaGgagcgcctggaccagtatcg	10	6	12	13	2	2	0	2	0	0	0	3	3	2	3	4	3	2	2	4	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.396G>T	p.Gln132His	p.Q132H	ENST00000450993	4/16	209	96	113	153	152	1	strelka-varscan-mutect	PLCD4,missense_variant,p.Gln132His,ENST00000450993,NM_032726.3;PLCD4,missense_variant,p.Gln132His,ENST00000432688,;PLCD4,missense_variant,p.Gln132His,ENST00000417849,;PLCD4,downstream_gene_variant,,ENST00000415854,;PLCD4,3_prime_UTR_variant,,ENST00000444453,;PLCD4,3_prime_UTR_variant,,ENST00000446503,;PLCD4,non_coding_transcript_exon_variant,,ENST00000473443,;PLCD4,non_coding_transcript_exon_variant,,ENST00000483685,;PLCD4,non_coding_transcript_exon_variant,,ENST00000469493,;PLCD4,non_coding_transcript_exon_variant,,ENST00000465713,;PLCD4,upstream_gene_variant,,ENST00000459791,;	T	ENST00000450993	Transcript	missense_variant	735/3232	396/2289	132/762	Q/H	caG/caT		1		1	PLCD4	HGNC	HGNC:9062	protein_coding	YES	CCDS46516.1	ENSP00000388631	Q9BRC7		UPI0000044279	NM_032726.3	deleterious(0.04)		4/16		hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF31,Gene3D:2.30.29.30																	MODERATE	1	SNV	1			1										PASS		rs1353538502	.												T	3	4	46	218618793	218618793	G	T	1	0	0	0	0	1	0	0	0	12127	991	35	2		2	PLCD4	2	218618793	Missense_Mutation	SNP	G	C3N-00294_TP	3607216	218618793	23574736	281	13783											
NHEJ1	0	.	GRCh38	chr2	219157511	219157511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcagtggaaattccaataGaaggggaggccagagagctc	14	6	14	7	0	0	2	0	0	0	2	2	5	1	4	2	4	2	2	2	4	4	2			C3N-00294_TP	C3N-00294_NB	G	G																c.351C>G	p.Phe117Leu	p.F117L	ENST00000356853	3/8	590	550	40	492	492	0	strelka-varscan-mutect	NHEJ1,missense_variant,p.Phe117Leu,ENST00000356853,NM_024782.2;NHEJ1,missense_variant,p.Phe117Leu,ENST00000409720,;NHEJ1,missense_variant,p.Phe37Leu,ENST00000426304,;NHEJ1,missense_variant,p.Phe117Leu,ENST00000457600,;SLC23A3,downstream_gene_variant,,ENST00000455516,NM_001144890.1;SLC23A3,downstream_gene_variant,,ENST00000295738,NM_144712.4;SLC23A3,downstream_gene_variant,,ENST00000409878,NM_001144889.1;NHEJ1,downstream_gene_variant,,ENST00000481764,;NHEJ1,missense_variant,p.Phe117Leu,ENST00000418099,;RP11-33O4.2,3_prime_UTR_variant,,ENST00000318673,;NHEJ1,3_prime_UTR_variant,,ENST00000450447,;RP11-33O4.2,non_coding_transcript_exon_variant,,ENST00000498327,;	C	ENST00000356853	Transcript	missense_variant	485/2094	351/900	117/299	F/L	ttC/ttG	COSM1752354,COSM3933534,COSM3933535	1		-1	NHEJ1	HGNC	HGNC:25737	protein_coding	YES	CCDS2432.1	ENSP00000349313	Q9H9Q4		UPI000006D9F7	NM_024782.2	deleterious(0)		3/8		Gene3D:2.170.210.10,Pfam_domain:PF09302,hmmpanther:PTHR32235											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs1249067213	.												C	3	2	46	219157511	219157511	G	C	1	0	0	0	0	1	0	0	0	10435	933	33	4		4	NHEJ1	2	219157511	Missense_Mutation	SNP	G	C3N-00294_TP	538718	219157511	23036018	282	13784											
SLC23A3	0	.	GRCh38	chr2	219168773	219168773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgggggaacacgtggccggGactccccagcagccccatca	8	4	14	15	2	1	0	1	0	0	0	2	2	2	2	5	4	3	1	5	4	1	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.577C>T	p.Pro193Ser	p.P193S	ENST00000455516	5/12	92	77	15	84	84	0	strelka-varscan-mutect	SLC23A3,missense_variant,p.Pro193Ser,ENST00000455516,NM_001144890.1;SLC23A3,missense_variant,p.Pro185Ser,ENST00000295738,NM_144712.4;SLC23A3,missense_variant,p.Pro185Ser,ENST00000409878,NM_001144889.1;SLC23A3,missense_variant,p.Pro185Ser,ENST00000409370,;SLC23A3,missense_variant,p.Pro140Ser,ENST00000430764,;CNPPD1,downstream_gene_variant,,ENST00000409789,;CNPPD1,downstream_gene_variant,,ENST00000360507,NM_001321391.1,NM_001321390.1,NM_015680.4;CNPPD1,downstream_gene_variant,,ENST00000453038,;CNPPD1,downstream_gene_variant,,ENST00000451647,;SLC23A3,downstream_gene_variant,,ENST00000421779,;RP11-33O4.2,3_prime_UTR_variant,,ENST00000318673,;SLC23A3,3_prime_UTR_variant,,ENST00000414999,;SLC23A3,non_coding_transcript_exon_variant,,ENST00000497918,;SLC23A3,non_coding_transcript_exon_variant,,ENST00000465580,;RP11-33O4.2,intron_variant,,ENST00000498327,;SLC23A3,downstream_gene_variant,,ENST00000461812,;	A	ENST00000455516	Transcript	missense_variant	625/2048	577/1857	193/618	P/S	Ccc/Tcc		1		-1	SLC23A3	HGNC	HGNC:20601	protein_coding	YES	CCDS46517.1	ENSP00000406546	Q6PIS1		UPI0001914DC9	NM_001144890.1	tolerated(0.41)		5/12		hmmpanther:PTHR11119,hmmpanther:PTHR11119:SF3,Pfam_domain:PF00860																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	46	219168773	219168773	G	A	1	0	0	0	0	1	0	0	0	14730	1174	41	3		3	SLC23A3	2	219168773	Missense_Mutation	SNP	G	C3N-00294_TP	11262	219168773	23024756	283	13785											
ABCB6	0	.	GRCh38	chr2	219218469	219218469	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagcacgtagggagagatgcGagggccggccccccaagaca	11	2	15	13	3	0	2	0	0	0	2	0	5	0	3	4	3	2	2	4	3	2	1	rs747669898		C3N-00294_TP	C3N-00294_NB	G	G																c.205C>G	p.Arg69Gly	p.R69G	ENST00000265316	1/19	165	128	37	177	176	1	strelka-varscan-mutect	ABCB6,missense_variant,p.Arg69Gly,ENST00000265316,NM_005689.2;ATG9A,downstream_gene_variant,,ENST00000409618,;ATG9A,downstream_gene_variant,,ENST00000396761,NM_024085.4;ATG9A,downstream_gene_variant,,ENST00000361242,NM_001077198.2;ATG9A,downstream_gene_variant,,ENST00000409422,;ABCB6,upstream_gene_variant,,ENST00000295750,;ATG9A,downstream_gene_variant,,ENST00000429920,;ABCB6,missense_variant,p.Arg4Gly,ENST00000448398,;ATG9A,3_prime_UTR_variant,,ENST00000446716,;ATG9A,downstream_gene_variant,,ENST00000409033,;ABCB6,upstream_gene_variant,,ENST00000497882,;ATG9A,downstream_gene_variant,,ENST00000475339,;ABCB6,upstream_gene_variant,,ENST00000417678,;ABCB6,upstream_gene_variant,,ENST00000496984,;ABCB6,upstream_gene_variant,,ENST00000492953,;ABCB6,upstream_gene_variant,,ENST00000494639,;ABCB6,upstream_gene_variant,,ENST00000452545,;	C	ENST00000265316	Transcript	missense_variant	522/3016	205/2529	69/842	R/G	Cgc/Ggc	rs747669898,COSM32216	1		-1	ABCB6	HGNC	HGNC:47	protein_coding	YES	CCDS2436.1	ENSP00000265316	Q9NP58		UPI000004C4BA	NM_005689.2	tolerated(0.06)		1/19		hmmpanther:PTHR24221:SF18,hmmpanther:PTHR24221,Pfam_domain:PF16185											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs747669898	.												C	3	2	46	219218469	219218469	G	C	1	0	0	0	0	1	0	0	0	49	1058	37	4		4	ABCB6	2	219218469	Missense_Mutation	SNP	G	C3N-00294_TP	49696	219218469	22975060	284	13786											
SPEG	0	.	GRCh38	chr2	219449173	219449173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagagaagaggcttcgcaGagggccggaggaggacggtc	10	3	20	8	3	0	3	0	0	0	3	2	7	0	6	1	7	0	3	1	7	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2015G>A	p.Arg672Lys	p.R672K	ENST00000312358	4/41	39	33	6	24	24	0	strelka-mutect	SPEG,missense_variant,p.Arg672Lys,ENST00000312358,NM_005876.4;SPEG,missense_variant,p.Arg568Lys,ENST00000396698,;SPEG,downstream_gene_variant,,ENST00000431523,;SPEG,downstream_gene_variant,,ENST00000435853,;SPEG,downstream_gene_variant,,ENST00000451076,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,upstream_gene_variant,,ENST00000462545,;SPEG,downstream_gene_variant,,ENST00000491248,;SPEG,upstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000497065,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,intron_variant,,ENST00000409595,;SPEG,downstream_gene_variant,,ENST00000452101,;SPEG,downstream_gene_variant,,ENST00000420132,;SPEG,downstream_gene_variant,,ENST00000403148,;	A	ENST00000312358	Transcript	missense_variant	2147/10782	2015/9804	672/3267	R/K	aGa/aAa		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	tolerated(0.63)		4/41																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	219449173	219449173	G	A	1	0	0	0	0	1	0	0	0	15387	942	33	3		3	SPEG	2	219449173	Missense_Mutation	SNP	G	C3N-00294_TP	230704	219449173	22744356	285	13787											
CUL3	0	.	GRCh38	chr2	224505958	224505958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcattactacttacccCtttgactccctttttcagct	9	16	3	13	0	1	1	1	1	0	0	2	1	2	1	3	0	5	2	3	0	4	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1204G>A	p.Gly402Arg	p.G402R	ENST00000264414	8/16	83	75	8	70	70	0	strelka-varscan-mutect	CUL3,missense_variant,p.Gly402Arg,ENST00000264414,NM_003590.4;CUL3,missense_variant,p.Gly336Arg,ENST00000344951,NM_001257197.1;CUL3,missense_variant,p.Gly378Arg,ENST00000409777,;CUL3,missense_variant,p.Gly378Arg,ENST00000409096,NM_001257198.1;CUL3,splice_region_variant,,ENST00000617432,;CUL3,non_coding_transcript_exon_variant,,ENST00000484081,;CUL3,upstream_gene_variant,,ENST00000481135,;	T	ENST00000264414	Transcript	missense_variant,splice_region_variant	1543/6741	1204/2307	402/768	G/R	Ggg/Agg		1		-1	CUL3	HGNC	HGNC:2553	protein_coding	YES	CCDS2462.1	ENSP00000264414	Q13618	A0A024R475	UPI0000001C83	NM_003590.4	deleterious(0)		8/16		PROSITE_profiles:PS50069,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF85,Pfam_domain:PF00888,Gene3D:1.20.1310.10,Superfamily_domains:SSF75632																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	224505958	224505958	C	T	1	0	0	0	0	1	0	0	0	3866	695	24	3		3	CUL3	2	224505958	Missense_Mutation	SNP	C	C3N-00294_TP	5056785	224505958	17687571	286	13788											
CUL3	0	.	GRCh38	chr2	224514647	224514647	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttccgctctcttgcaatCatatccaatagagtttgccg	8	14	6	13	2	2	1	1	0	1	1	5	1	4	1	4	0	2	3	4	0	4	5			C3N-00294_TP	C3N-00294_NB	C	C																c.504G>C	p.Met168Ile	p.M168I	ENST00000264414	4/16	92	80	12	107	107	0	strelka-mutect	CUL3,missense_variant,p.Met168Ile,ENST00000264414,NM_003590.4;CUL3,missense_variant,p.Met102Ile,ENST00000344951,NM_001257197.1;CUL3,missense_variant,p.Met144Ile,ENST00000409777,;CUL3,missense_variant,p.Met144Ile,ENST00000409096,NM_001257198.1;CUL3,missense_variant,p.Met189Ile,ENST00000436172,;CUL3,non_coding_transcript_exon_variant,,ENST00000541548,;CUL3,3_prime_UTR_variant,,ENST00000432260,;CUL3,upstream_gene_variant,,ENST00000484081,;	G	ENST00000264414	Transcript	missense_variant	843/6741	504/2307	168/768	M/I	atG/atC	COSM3391523	1		-1	CUL3	HGNC	HGNC:2553	protein_coding	YES	CCDS2462.1	ENSP00000264414	Q13618	A0A024R475	UPI0000001C83	NM_003590.4	tolerated(0.07)		4/16		hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF85,Pfam_domain:PF00888,Gene3D:1.20.1310.10,Superfamily_domains:SSF74788											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	46	224514647	224514647	C	G	1	0	0	0	0	1	0	0	0	3866	826	29	4		4	CUL3	2	224514647	Missense_Mutation	SNP	C	C3N-00294_TP	8689	224514647	17678882	287	13789											
TRIP12	0	.	GRCh38	chr2	229880001	229880001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctcctattgagtcgtCttgtggttgggccccggcag	3	13	12	13	2	1	1	0	1	1	0	4	1	3	1	5	3	0	2	5	3	1	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.79G>T	p.Asp27Tyr	p.D27Y	ENST00000389044	2/42	328	275	53	288	287	1	strelka-varscan-mutect	TRIP12,missense_variant,p.Asp27Tyr,ENST00000283943,NM_001284215.1,NM_004238.2;TRIP12,missense_variant,p.Asp27Tyr,ENST00000389044,NM_001284214.1;TRIP12,missense_variant,p.Asp27Tyr,ENST00000389045,NM_001284216.1;TRIP12,missense_variant,p.Asp27Tyr,ENST00000409677,;TRIP12,missense_variant,p.Asp27Tyr,ENST00000430954,;TRIP12,missense_variant,p.Asp27Tyr,ENST00000435716,;TRIP12,missense_variant,p.Asp27Tyr,ENST00000428959,;TRIP12,missense_variant,p.Asp27Tyr,ENST00000343290,;TRIP12,non_coding_transcript_exon_variant,,ENST00000479037,;	A	ENST00000389044	Transcript	missense_variant	248/6405	79/6123	27/2040	D/Y	Gac/Tac		1		-1	TRIP12	HGNC	HGNC:12306	protein_coding	YES	CCDS63146.1	ENSP00000373696	Q14669		UPI0000DA6BE7	NM_001284214.1	deleterious_low_confidence(0)		2/42																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	229880001	229880001	C	A	1	0	0	0	0	1	0	0	0	17053	913	32	2		2	TRIP12	2	229880001	Missense_Mutation	SNP	C	C3N-00294_TP	5365354	229880001	12313528	288	13790											
SP140	0	.	GRCh38	chr2	230238253	230238253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacctggtcccagtgacaaGagtgatgtattgtgtactca	12	11	10	8	0	1	3	1	2	0	1	2	3	2	3	2	1	2	2	2	1	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.278G>C	p.Arg93Thr	p.R93T	ENST00000392045	3/27	164	128	36	132	132	0	strelka-varscan-mutect	SP140,missense_variant,p.Arg93Thr,ENST00000392045,NM_007237.4;SP140,missense_variant,p.Arg93Thr,ENST00000420434,NM_001278451.1;SP140,missense_variant,p.Arg93Thr,ENST00000343805,NM_001278452.1;SP140,missense_variant,p.Arg93Thr,ENST00000417495,NM_001278453.1;SP140,missense_variant,p.Arg93Thr,ENST00000373645,NM_001005176.2;SP140,downstream_gene_variant,,ENST00000456542,;SP140,non_coding_transcript_exon_variant,,ENST00000544128,;SP140,non_coding_transcript_exon_variant,,ENST00000538494,;SP140,non_coding_transcript_exon_variant,,ENST00000543928,;SP140,downstream_gene_variant,,ENST00000473711,;	C	ENST00000392045	Transcript	missense_variant	392/3246	278/2604	93/867	R/T	aGa/aCa		1		1	SP140	HGNC	HGNC:17133	protein_coding	YES	CCDS42831.1	ENSP00000375899	Q13342		UPI0000209746	NM_007237.4	deleterious(0)		3/27		Pfam_domain:PF03172,PROSITE_profiles:PS51414																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	46	230238253	230238253	G	C	1	0	0	0	0	1	0	0	0	15288	942	33	4		4	SP140	2	230238253	Missense_Mutation	SNP	G	C3N-00294_TP	358252	230238253	11955276	289	13791											
SP140	0	.	GRCh38	chr2	230292761	230292761	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgagtgtgcgctgtggCgggtggcccctacgatggct	4	9	18	10	3	0	1	0	1	0	0	0	2	0	1	2	5	2	3	2	5	1	1	rs773468716		C3N-00294_TP	C3N-00294_NB	C	C																c.1941C>T	p.=	p.G647G	ENST00000392045	20/27	200	158	42	169	169	0	strelka-varscan-mutect	SP140,synonymous_variant,p.=,ENST00000392045,NM_007237.4;SP140,synonymous_variant,p.=,ENST00000420434,NM_001278451.1;SP140,synonymous_variant,p.=,ENST00000343805,NM_001278452.1;SP140,synonymous_variant,p.=,ENST00000417495,NM_001278453.1;SP140,upstream_gene_variant,,ENST00000486750,;SP140,downstream_gene_variant,,ENST00000476126,;	T	ENST00000392045	Transcript	synonymous_variant	2055/3246	1941/2604	647/867	G	ggC/ggT	rs773468716,COSM4310678	1		1	SP140	HGNC	HGNC:17133	protein_coding	YES	CCDS42831.1	ENSP00000375899	Q13342		UPI0000209746	NM_007237.4			20/27		Gene3D:3.10.390.10,Pfam_domain:PF01342,PROSITE_profiles:PS50864,SMART_domains:SM00258,Superfamily_domains:SSF63763											0,1						LOW	1	SNV	2		0,1	1										PASS		rs773468716	.												T	2	4	46	230292761	230292761	C	T	1	0	0	0	0	0	0	0	1	15288	755	27	1		1	SP140	2	230292761	Silent	SNP	C	C3N-00294_TP	54508	230292761	11900768	290	13792											
PSMD1	0	.	GRCh38	chr2	231075572	231075572	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaaagacaccagaagccGtgagtgtgcttttttttttt	10	15	10	6	1	0	3	0	1	0	2	0	4	0	4	2	1	2	1	2	1	3	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.942+1G>A		p.X314_splice	ENST00000308696		104	93	11	85	85	0	strelka-varscan-mutect	PSMD1,splice_donor_variant,,ENST00000308696,NM_002807.3;PSMD1,splice_donor_variant,,ENST00000373635,NM_001191037.1;PSMD1,splice_donor_variant,,ENST00000619128,;PSMD1,splice_donor_variant,,ENST00000409643,;PSMD1,downstream_gene_variant,,ENST00000444007,;PSMD1,splice_donor_variant,,ENST00000431051,;	A	ENST00000308696	Transcript	splice_donor_variant	-/3326	942/2862	314/953				1		1	PSMD1	HGNC	HGNC:9554	protein_coding	YES	CCDS2482.1	ENSP00000309474	Q99460		UPI00001678A2	NM_002807.3				8/24																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	46	231075572	231075572	G	A	1	0	0	0	0	0	0	1	0	12843	1159	40	1		1	PSMD1	2	231075572	Splice_Site	SNP	G	C3N-00294_TP	782811	231075572	11117957	291	13793											
NCL	0	.	GRCh38	chr2	231461695	231461695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctcctcatcctcctcaCtgtcatcatcctcctcttca	6	14	1	20	0	6	0	5	0	1	0	12	0	12	0	6	0	0	0	6	0	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.458G>C	p.Ser153Thr	p.S153T	ENST00000322723	3/14	510	420	90	467	467	0	strelka-varscan-mutect	NCL,missense_variant,p.Ser153Thr,ENST00000322723,NM_005381.2;NCL,missense_variant,p.Ser137Thr,ENST00000453992,;NCL,missense_variant,p.Ser137Thr,ENST00000454824,;NCL,missense_variant,p.Ser137Thr,ENST00000417652,;NCL,missense_variant,p.Ser137Thr,ENST00000436894,;NCL,upstream_gene_variant,,ENST00000356936,;SNORD82,upstream_gene_variant,,ENST00000365530,;NCL,non_coding_transcript_exon_variant,,ENST00000461347,;NCL,upstream_gene_variant,,ENST00000494618,;NCL,upstream_gene_variant,,ENST00000466274,;NCL,downstream_gene_variant,,ENST00000484328,;	G	ENST00000322723	Transcript	missense_variant	699/4034	458/2133	153/710	S/T	aGt/aCt		1		-1	NCL	HGNC	HGNC:7667	protein_coding	YES	CCDS33397.1	ENSP00000318195	P19338	A0A024R4A0	UPI0000456F25	NM_005381.2	tolerated_low_confidence(0.07)		3/14		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	46	231461695	231461695	C	G	1	0	0	0	0	1	0	0	0	10244	565	20	4		4	NCL	2	231461695	Missense_Mutation	SNP	C	C3N-00294_TP	386123	231461695	10731834	292	13794											
INPP5D	0	.	GRCh38	chr2	233147480	233147480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcttctaaggtgaaggcaGagtctctggggattcctcag	8	12	12	9	0	4	2	1	1	3	1	7	3	5	3	1	4	0	1	1	4	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.916G>A	p.Glu306Lys	p.E306K	ENST00000445964	9/27	161	121	40	186	186	0	strelka-varscan-mutect	INPP5D,missense_variant,p.Glu305Lys,ENST00000359570,NM_005541.4;INPP5D,missense_variant,p.Glu306Lys,ENST00000445964,NM_001017915.2;	A	ENST00000445964	Transcript	missense_variant	997/4845	916/3570	306/1189	E/K	Gag/Aag		1		1	INPP5D	HGNC	HGNC:6079	protein_coding	YES	CCDS74672.1	ENSP00000405338	Q92835		UPI000006FD6D	NM_001017915.2	tolerated(0.15)		9/27		hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF69																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	233147480	233147480	G	A	1	0	0	0	0	1	0	0	0	7659	943	33	3		3	INPP5D	2	233147480	Missense_Mutation	SNP	G	C3N-00294_TP	1685785	233147480	9046049	293	13795											
INPP5D	0	.	GRCh38	chr2	233170077	233170077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggccctgggcgacaaGaagctgagtccctttaacat	9	10	10	12	1	0	2	0	1	0	1	2	3	2	2	3	2	2	1	3	2	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1704G>T	p.Lys568Asn	p.K568N	ENST00000445964	15/27	288	258	30	264	264	0	strelka-varscan-mutect	INPP5D,missense_variant,p.Lys567Asn,ENST00000359570,NM_005541.4;INPP5D,missense_variant,p.Lys568Asn,ENST00000445964,NM_001017915.2;INPP5D,missense_variant,p.Lys189Asn,ENST00000415617,;INPP5D,non_coding_transcript_exon_variant,,ENST00000472517,;INPP5D,non_coding_transcript_exon_variant,,ENST00000493632,;INPP5D,non_coding_transcript_exon_variant,,ENST00000480983,;INPP5D,upstream_gene_variant,,ENST00000465281,;INPP5D,downstream_gene_variant,,ENST00000493078,;	T	ENST00000445964	Transcript	missense_variant	1785/4845	1704/3570	568/1189	K/N	aaG/aaT		1		1	INPP5D	HGNC	HGNC:6079	protein_coding	YES	CCDS74672.1	ENSP00000405338	Q92835		UPI000006FD6D	NM_001017915.2	deleterious(0)		15/27		Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF69,SMART_domains:SM00128,Superfamily_domains:SSF56219																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	233170077	233170077	G	T	1	0	0	0	0	1	0	0	0	7659	933	33	2		2	INPP5D	2	233170077	Missense_Mutation	SNP	G	C3N-00294_TP	22597	233170077	9023452	294	13796											
MROH2A	0	.	GRCh38	chr2	233789873	233789873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagggctatatgaaggcaGaggtggccagcgacacactg	11	6	16	8	1	0	2	0	1	0	1	0	4	0	3	1	5	1	2	1	5	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.430G>A	p.Glu144Lys	p.E144K	ENST00000610772	5/42	80	68	12	62	62	0	strelka-varscan-mutect	MROH2A,missense_variant,p.Glu144Lys,ENST00000389758,;MROH2A,missense_variant,p.Glu144Lys,ENST00000610772,NM_001287395.1;MROH2A,intron_variant,,ENST00000480634,;	A	ENST00000610772	Transcript	missense_variant	523/5324	430/5067	144/1688	E/K	Gag/Aag		1		1	MROH2A	HGNC	HGNC:27936	protein_coding	YES	CCDS74674.1	ENSP00000477597		A0A087WT58	UPI00021AED4F	NM_001287395.1	deleterious(0.01)		5/42		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	233789873	233789873	G	A	1	0	0	0	0	1	0	0	0	9744	943	33	3		3	MROH2A	2	233789873	Missense_Mutation	SNP	G	C3N-00294_TP	619796	233789873	8403656	295	13797											
CAPN10	0	.	GRCh38	chr2	240590902	240590902	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcagtttggacgctgggtgGaggtgaccacagatgaccgc	8	7	17	9	2	0	3	0	2	0	1	0	5	0	5	2	5	0	3	2	5	0	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.361G>C	p.Glu121Gln	p.E121Q	ENST00000391984	3/12	274	231	43	205	205	0	strelka-varscan-mutect	CAPN10,missense_variant,p.Glu121Gln,ENST00000391984,NM_023083.3;CAPN10,missense_variant,p.Glu121Gln,ENST00000404753,;CAPN10,missense_variant,p.Glu121Gln,ENST00000354082,NM_023085.3;CAPN10,intron_variant,,ENST00000270364,;CAPN10,intron_variant,,ENST00000352879,;CAPN10,upstream_gene_variant,,ENST00000432084,;CAPN10-AS1,upstream_gene_variant,,ENST00000567819,;CAPN10,missense_variant,p.Glu121Gln,ENST00000416591,;CAPN10,missense_variant,p.Glu121Gln,ENST00000270361,;CAPN10,missense_variant,p.Glu121Gln,ENST00000391983,;CAPN10,missense_variant,p.Glu121Gln,ENST00000357048,;CAPN10,non_coding_transcript_exon_variant,,ENST00000494738,;CAPN10,upstream_gene_variant,,ENST00000493058,;CAPN10,downstream_gene_variant,,ENST00000463653,;CAPN10,upstream_gene_variant,,ENST00000465943,;CAPN10,upstream_gene_variant,,ENST00000483602,;	C	ENST00000391984	Transcript	missense_variant	557/2644	361/2019	121/672	E/Q	Gag/Cag		1		1	CAPN10	HGNC	HGNC:1477	protein_coding	YES	CCDS42838.1	ENSP00000375844	Q9HC96		UPI00001AE96D	NM_023083.3	deleterious(0)		3/12		Pfam_domain:PF00648,Prints_domain:PR00704,PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF30,SMART_domains:SM00230,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	240590902	240590902	G	C	1	0	0	0	0	1	0	0	0	2315	1175	41	4		4	CAPN10	2	240590902	Missense_Mutation	SNP	G	C3N-00294_TP	6801029	240590902	1602627	296	13798											
GPR35	0	.	GRCh38	chr2	240629979	240629979	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacctacaacacctgtggCtccagcgacctcacctggcc	8	6	9	18	1	1	0	1	0	0	0	2	1	2	0	6	3	3	2	6	3	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.120C>T	p.=	p.G40G	ENST00000430267	2/2	66	61	5	53	53	0	strelka-varscan-mutect	GPR35,synonymous_variant,p.=,ENST00000438013,;GPR35,synonymous_variant,p.=,ENST00000319838,;GPR35,synonymous_variant,p.=,ENST00000403859,;GPR35,synonymous_variant,p.=,ENST00000430267,NM_001195381.1,NM_001195382.1;GPR35,synonymous_variant,p.=,ENST00000407714,NM_005301.3;	T	ENST00000430267	Transcript	synonymous_variant	120/1399	120/1023	40/340	G	ggC/ggT		1		1	GPR35	HGNC	HGNC:4492	protein_coding	YES	CCDS56174.1	ENSP00000411788	Q9HC97		UPI0000E6291C	NM_001195381.1,NM_001195382.1			2/2		hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF54,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	46	240629979	240629979	C	T	1	0	0	0	0	0	0	0	1	6575	784	28	3		3	GPR35	2	240629979	Silent	SNP	C	C3N-00294_TP	39077	240629979	1563550	297	13799											
KIF1A	0	.	GRCh38	chr2	240783087	240783087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgcccagggtggtcagcGacttgttgatgttggccccc	4	11	13	13	1	1	1	1	1	0	0	1	2	1	1	4	3	2	2	4	3	0	4	rs797045655		C3N-00294_TP	C3N-00294_NB	G	G																c.821C>T	p.Ser274Leu	p.S274L	ENST00000498729	9/49	361	340	21	337	337	0	strelka-varscan-mutect	KIF1A,missense_variant,p.Ser274Leu,ENST00000498729,NM_001244008.1;KIF1A,missense_variant,p.Ser274Leu,ENST00000320389,NM_004321.6;KIF1A,missense_variant,p.Ser274Leu,ENST00000404283,;KIF1A,missense_variant,p.Ser82Leu,ENST00000428768,;	A	ENST00000498729	Transcript	missense_variant	1068/9223	821/5376	274/1791	S/L	tCg/tTg	rs797045655	1		-1	KIF1A	HGNC	HGNC:888	protein_coding	YES	CCDS58757.1	ENSP00000438388	Q12756		UPI0002065B81	NM_001244008.1	deleterious(0)		9/49		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF361,SMART_domains:SM00129,Superfamily_domains:SSF52540										uncertain_significance							MODERATE	1	SNV	1		1	1										PASS		rs797045655	.												A	3	1	46	240783087	240783087	G	A	1	0	0	0	0	1	0	0	0	8147	1059	37	1		1	KIF1A	2	240783087	Missense_Mutation	SNP	G	C3N-00294_TP	153108	240783087	1410442	298	13800											
PASK	0	.	GRCh38	chr2	241142937	241142937	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgggctcagcagtggtCtgtgcagctgggccctctgc	3	10	15	13	0	3	0	1	0	2	0	3	0	3	0	1	3	5	5	1	3	0	0	rs763806405		C3N-00294_TP	C3N-00294_NB	C	C																c.96G>A	p.=	p.Q32Q	ENST00000358649	2/18	293	243	50	290	290	0	strelka-varscan-mutect	PASK,synonymous_variant,p.=,ENST00000403638,NM_001252124.1;PASK,synonymous_variant,p.=,ENST00000405260,;PASK,synonymous_variant,p.=,ENST00000544142,NM_001252120.1;PASK,synonymous_variant,p.=,ENST00000234040,NM_015148.3,NM_001252122.1;PASK,synonymous_variant,p.=,ENST00000358649,NM_001252119.1;PASK,synonymous_variant,p.=,ENST00000452907,;PASK,synonymous_variant,p.=,ENST00000629419,;PASK,intron_variant,,ENST00000415234,;PASK,upstream_gene_variant,,ENST00000433589,;PASK,synonymous_variant,p.=,ENST00000437780,;PASK,upstream_gene_variant,,ENST00000485940,;	T	ENST00000358649	Transcript	synonymous_variant	160/4326	96/3993	32/1330	Q	caG/caA	rs763806405	1		-1	PASK	HGNC	HGNC:17270	protein_coding	YES	CCDS58759.1	ENSP00000351475	Q96RG2		UPI0000456F4C	NM_001252119.1			2/18		hmmpanther:PTHR22971,hmmpanther:PTHR22971:SF4																	LOW	1	SNV	1			1										PASS		rs763806405	.												T	2	4	46	241142937	241142937	C	T	1	0	0	0	0	0	0	0	1	11553	912	32	3		3	PASK	2	241142937	Silent	SNP	C	C3N-00294_TP	359850	241142937	1050592	299	13801											
HDLBP	0	.	GRCh38	chr2	241235231	241235231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgatgtcagactgcagctCaggtgccgggacatgtatgt	9	10	14	8	1	2	2	2	1	0	1	2	4	2	3	1	2	3	3	1	2	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3034G>C	p.Glu1012Gln	p.E1012Q	ENST00000391975	23/28	229	181	48	239	239	0	strelka-varscan-mutect	HDLBP,missense_variant,p.Glu1012Gln,ENST00000391975,NM_001320965.1,NM_001320966.1,NM_203346.3;HDLBP,missense_variant,p.Glu979Gln,ENST00000427183,NM_001243900.1;HDLBP,missense_variant,p.Glu1012Gln,ENST00000310931,NM_005336.4;HDLBP,missense_variant,p.Glu1012Gln,ENST00000391976,;HDLBP,missense_variant,p.Glu821Gln,ENST00000373292,;HDLBP,downstream_gene_variant,,ENST00000427487,;HDLBP,downstream_gene_variant,,ENST00000452931,;HDLBP,upstream_gene_variant,,ENST00000442730,;HDLBP,non_coding_transcript_exon_variant,,ENST00000470482,;HDLBP,non_coding_transcript_exon_variant,,ENST00000483086,;HDLBP,upstream_gene_variant,,ENST00000484412,;HDLBP,downstream_gene_variant,,ENST00000471294,;HDLBP,non_coding_transcript_exon_variant,,ENST00000487169,;HDLBP,non_coding_transcript_exon_variant,,ENST00000479894,;HDLBP,downstream_gene_variant,,ENST00000479169,;HDLBP,upstream_gene_variant,,ENST00000488013,;HDLBP,downstream_gene_variant,,ENST00000459788,;	G	ENST00000391975	Transcript	missense_variant	3262/6372	3034/3807	1012/1268	E/Q	Gag/Cag		1		-1	HDLBP	HGNC	HGNC:4857	protein_coding	YES	CCDS2547.1	ENSP00000375836		A0A024R4E5	UPI0000000C28	NM_001320965.1,NM_001320966.1,NM_203346.3	tolerated(0.13)		23/28		PROSITE_profiles:PS50084,hmmpanther:PTHR10627:SF34,hmmpanther:PTHR10627,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	241235231	241235231	C	G	1	0	0	0	0	1	0	0	0	6908	835	29	4		4	HDLBP	2	241235231	Missense_Mutation	SNP	C	C3N-00294_TP	92294	241235231	958298	300	13802											
CHL1	0	.	GRCh38	chr3	328213	328213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttttatttcactgaccatCggataattccatcgaacaat	12	15	4	10	2	1	1	1	1	0	0	4	3	2	2	2	1	1	0	2	1	4	6	rs752032870		C3N-00294_TP	C3N-00294_NB	C	C																c.244C>T	p.Arg82Trp	p.R82W	ENST00000256509	5/28	139	112	27	151	150	1	strelka-varscan-mutect	CHL1,missense_variant,p.Arg82Trp,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Arg82Trp,ENST00000620033,NM_001253388.1;CHL1,missense_variant,p.Arg82Trp,ENST00000397491,NM_001253387.1;CHL1,missense_variant,p.Arg82Trp,ENST00000435603,;CHL1,missense_variant,p.Arg82Trp,ENST00000449294,;CHL1,missense_variant,p.Arg82Trp,ENST00000421198,;CHL1,downstream_gene_variant,,ENST00000427688,;CHL1,non_coding_transcript_exon_variant,,ENST00000461289,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	T	ENST00000256509	Transcript	missense_variant	886/8023	244/3675	82/1224	R/W	Cgg/Tgg	rs752032870,COSM1201060	1		1	CHL1	HGNC	HGNC:1939	protein_coding	YES	CCDS2556.1	ENSP00000256509	O00533		UPI000013CF0F	NM_006614.3	deleterious(0)		5/28		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF653,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs752032870	.												T	3	4	46	328213	328213	C	T	1	0	0	0	0	1	0	0	0	3108	875	31	1		1	CHL1	3	328213	Missense_Mutation	SNP	C	C3N-00294_TP		328213	197967346	301	13803											
ITPR1	0	.	GRCh38	chr3	4674322	4674322	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccctttctctgataaagaGaagaataagcttacgtttga	13	14	7	7	1	1	4	0	2	1	2	3	5	2	4	1	0	2	2	1	0	6	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2532G>C	p.Glu844Asp	p.E844D	ENST00000302640	21/61	94	73	21	150	150	0	strelka-varscan-mutect	ITPR1,missense_variant,p.Glu859Asp,ENST00000354582,;ITPR1,missense_variant,p.Glu844Asp,ENST00000302640,NM_001168272.1;ITPR1,missense_variant,p.Glu859Asp,ENST00000357086,NM_001099952.2;ITPR1,missense_variant,p.Glu844Asp,ENST00000456211,NM_002222.5;ITPR1,missense_variant,p.Glu844Asp,ENST00000443694,;ITPR1,intron_variant,,ENST00000544951,;ITPR1,downstream_gene_variant,,ENST00000477577,;	C	ENST00000302640	Transcript	missense_variant	2882/10197	2532/8232	844/2743	E/D	gaG/gaC		1		1	ITPR1	HGNC	HGNC:6180	protein_coding	YES	CCDS54551.1	ENSP00000306253	Q14643		UPI0000E5A461	NM_001168272.1	tolerated(0.19)		21/61		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF52																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	46	4674322	4674322	G	C	1	0	0	0	0	1	0	0	0	7826	933	33	4		4	ITPR1	3	4674322	Missense_Mutation	SNP	G	C3N-00294_TP	4346109	4674322	193621237	302	13804											
BHLHE40	0	.	GRCh38	chr3	4983687	4983687	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttaaacttagaaaccaaaGactaaactctctaggggatc	16	10	6	9	0	1	2	0	0	1	2	3	3	1	3	1	2	3	0	1	2	8	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1234G>C	p.Asp412His	p.D412H	ENST00000256495	5/5	66	54	12	83	83	0	strelka-varscan-mutect	BHLHE40,missense_variant,p.Asp412His,ENST00000256495,NM_003670.2;BHLHE40-AS1,upstream_gene_variant,,ENST00000620618,;BHLHE40-AS1,upstream_gene_variant,,ENST00000615178,;BHLHE40-AS1,upstream_gene_variant,,ENST00000441386,;BHLHE40,downstream_gene_variant,,ENST00000467610,;BHLHE40,downstream_gene_variant,,ENST00000460806,;	C	ENST00000256495	Transcript	missense_variant	1837/3473	1234/1239	412/412	D/H	Gac/Cac		1		1	BHLHE40	HGNC	HGNC:1046	protein_coding	YES	CCDS2565.1	ENSP00000256495	O14503	Q6IB83	UPI0000126923	NM_003670.2	deleterious_low_confidence(0)		5/5		hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	4983687	4983687	G	C	1	0	0	0	0	1	0	0	0	1571	942	33	4		4	BHLHE40	3	4983687	Missense_Mutation	SNP	G	C3N-00294_TP	309365	4983687	193311872	303	13805											
BRPF1	0	.	GRCh38	chr3	9744259	9744259	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcctcaacccccgcacatGaggtgggcaggagaacctca	10	6	11	14	1	2	2	2	1	0	1	3	3	3	2	4	3	2	2	4	3	2	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2671G>C	p.Glu891Gln	p.E891Q	ENST00000383829	9/14	36	27	9	24	24	0	strelka-varscan-mutect	BRPF1,missense_variant,p.Glu891Gln,ENST00000383829,NM_001003694.1;BRPF1,missense_variant,p.Glu884Gln,ENST00000424362,NM_001319050.1;BRPF1,missense_variant,p.Glu885Gln,ENST00000457855,NM_004634.2;BRPF1,intron_variant,,ENST00000433861,NM_001319049.1;BRPF1,downstream_gene_variant,,ENST00000469066,;BRPF1,upstream_gene_variant,,ENST00000497565,;	C	ENST00000383829	Transcript	missense_variant	3075/4736	2671/3663	891/1220	E/Q	Gag/Cag		1		1	BRPF1	HGNC	HGNC:14255	protein_coding	YES	CCDS33692.1	ENSP00000373340	P55201		UPI00001A9CA3	NM_001003694.1	tolerated(0.42)		9/14		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF85																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	9744259	9744259	G	C	1	0	0	0	0	1	0	0	0	1694	1291	45	4		4	BRPF1	3	9744259	Missense_Mutation	SNP	G	C3N-00294_TP	4760572	9744259	188551300	304	13806											
TMEM40	0	.	GRCh38	chr3	12742493	12742493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atccttcaaaacgtcaggctCcccatgcccaggacctggat	10	8	8	15	1	2	0	2	0	0	0	4	2	4	2	5	3	2	1	5	3	2	1	rs764930665		C3N-00294_TP	C3N-00294_NB	C	C																c.316G>A	p.Glu106Lys	p.E106K	ENST00000314124	5/12	116	91	25	108	108	0	strelka-varscan-mutect	TMEM40,missense_variant,p.Glu106Lys,ENST00000314124,NM_018306.3;TMEM40,missense_variant,p.Glu30Lys,ENST00000435575,NM_001284408.1;TMEM40,missense_variant,p.Glu76Lys,ENST00000435218,NM_001284407.1;TMEM40,missense_variant,p.Glu106Lys,ENST00000264728,NM_001284406.1;TMEM40,missense_variant,p.Glu9Lys,ENST00000428020,;TMEM40,upstream_gene_variant,,ENST00000476331,;TMEM40,upstream_gene_variant,,ENST00000485124,;TMEM40,upstream_gene_variant,,ENST00000480698,;	T	ENST00000314124	Transcript	missense_variant	673/2308	316/702	106/233	E/K	Gag/Aag	rs764930665,COSM4977993,COSM4977994	1		-1	TMEM40	HGNC	HGNC:25620	protein_coding	YES	CCDS2613.1	ENSP00000322837	Q8WWA1		UPI00000732A9	NM_018306.3	tolerated_low_confidence(0.14)		5/12		hmmpanther:PTHR16108,hmmpanther:PTHR16108:SF2,Low_complexity_(Seg):seg											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs764930665	.												T	3	4	46	12742493	12742493	C	T	1	0	0	0	0	1	0	0	0	16640	864	30	3		3	TMEM40	3	12742493	Missense_Mutation	SNP	C	C3N-00294_TP	2998234	12742493	185553066	305	13807											
ANKRD28	0	.	GRCh38	chr3	15724507	15724507	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgcgacacaagcaattTcactacttcaatgtgaccta	13	11	5	12	1	2	1	2	1	0	0	3	2	3	1	2	0	3	1	2	0	5	4	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.568A>T	p.Lys190Ter	p.K190*	ENST00000399451	7/28	112	53	59	117	117	0	strelka-varscan-mutect	ANKRD28,stop_gained,p.Lys190Ter,ENST00000399451,NM_015199.3;ANKRD28,stop_gained,p.Lys36Ter,ENST00000624145,NM_001195098.1,NM_001195099.1;ANKRD28,non_coding_transcript_exon_variant,,ENST00000497037,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000476472,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000460278,;ANKRD28,upstream_gene_variant,,ENST00000492895,;ANKRD28,stop_gained,p.Lys190Ter,ENST00000412318,;ANKRD28,stop_gained,p.Lys134Ter,ENST00000451422,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000498524,;	A	ENST00000399451	Transcript	stop_gained	936/6564	568/3162	190/1053	K/*	Aaa/Taa		1		-1	ANKRD28	HGNC	HGNC:29024	protein_coding	YES	CCDS46769.1	ENSP00000382379	O15084	A0A024R2G8	UPI00004120FF	NM_015199.3			7/28		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24158,hmmpanther:PTHR24158:SF22,Pfam_domain:PF13637,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	46	15724507	15724507	T	A	1	0	0	0	0	0	1	0	0	759	1792	62	4		4	ANKRD28	3	15724507	Nonsense_Mutation	SNP	T	C3N-00294_TP	2982014	15724507	182571052	306	13808											
PLCL2	0	.	GRCh38	chr3	17010282	17010282	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaaaattgagcttaagttCaaagaattgcataaatcaaa	20	10	6	5	0	2	2	2	1	0	1	2	2	2	2	0	0	3	4	0	0	8	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.936C>T	p.=	p.F312F	ENST00000615277	2/6	85	75	10	152	151	1	strelka-varscan-mutect	PLCL2,synonymous_variant,p.=,ENST00000615277,NM_001144382.1;PLCL2,synonymous_variant,p.=,ENST00000432376,NM_015184.5;PLCL2,upstream_gene_variant,,ENST00000419842,;PLCL2,intron_variant,,ENST00000460467,;	T	ENST00000615277	Transcript	synonymous_variant	1017/4147	936/3384	312/1127	F	ttC/ttT		1		1	PLCL2	HGNC	HGNC:9064	protein_coding	YES	CCDS74911.1	ENSP00000478458	Q9UPR0		UPI0000242D01	NM_001144382.1			2/6		hmmpanther:PTHR10336:SF84,hmmpanther:PTHR10336,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	17010282	17010282	C	T	1	0	0	0	0	0	0	0	1	12134	825	29	3		3	PLCL2	3	17010282	Silent	SNP	C	C3N-00294_TP	1285775	17010282	181285277	307	13809											
THRB	0	.	GRCh38	chr3	24190225	24190225	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttcaacgtgctgcgcctCtctgaatggctcttcctatg	5	16	8	12	2	3	1	1	1	2	0	5	1	4	1	2	1	3	2	2	1	3	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.132G>C	p.Glu44Asp	p.E44D	ENST00000396671	5/11	320	254	66	317	317	0	strelka-varscan-mutect	THRB,missense_variant,p.Glu44Asp,ENST00000396671,NM_001128176.2;THRB,missense_variant,p.Glu44Asp,ENST00000356447,NM_000461.4,NM_001128177.1;THRB,missense_variant,p.Glu44Asp,ENST00000416420,NM_001252634.1;THRB,missense_variant,p.Glu13Asp,ENST00000413780,;THRB,missense_variant,p.Glu44Asp,ENST00000447875,;THRB,missense_variant,p.Glu44Asp,ENST00000453729,;THRB,missense_variant,p.Glu44Asp,ENST00000415021,;THRB,missense_variant,p.Glu44Asp,ENST00000418247,;THRB,missense_variant,p.Glu44Asp,ENST00000447414,;THRB,missense_variant,p.Glu44Asp,ENST00000431815,;THRB,missense_variant,p.Glu44Asp,ENST00000428492,;	G	ENST00000396671	Transcript	missense_variant	528/7506	132/1386	44/461	E/D	gaG/gaC		1		-1	THRB	HGNC	HGNC:11799	protein_coding	YES	CCDS2641.1	ENSP00000379904	P10828	F1D8N7	UPI0000136D26	NM_001128176.2	deleterious_low_confidence(0.02)		5/11																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	46	24190225	24190225	C	G	1	0	0	0	0	1	0	0	0	16309	912	32	4		4	THRB	3	24190225	Missense_Mutation	SNP	C	C3N-00294_TP	7179943	24190225	174105334	308	13810											
ZNF860	0	.	GRCh38	chr3	31989701	31989701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatatttctaataactatGaaaataatttcttccattca	15	17	1	8	0	3	1	1	1	2	0	5	1	5	1	2	0	1	0	2	0	7	9	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.622G>A	p.Glu208Lys	p.E208K	ENST00000360311	2/2	109	84	25	152	152	0	strelka-varscan-mutect	ZNF860,missense_variant,p.Glu208Lys,ENST00000360311,NM_001137674.2;OSBPL10,intron_variant,,ENST00000479173,;ZNF860,downstream_gene_variant,,ENST00000489408,;	A	ENST00000360311	Transcript	missense_variant	1171/3098	622/1899	208/632	E/K	Gaa/Aaa		1		1	ZNF860	HGNC	HGNC:34513	protein_coding	YES	CCDS46784.1	ENSP00000373274	A6NHJ4		UPI0000D61AE9	NM_001137674.2	deleterious(0.01)		2/2		Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	46	31989701	31989701	G	A	1	0	0	0	0	1	0	0	0	18785	1291	45	3		3	ZNF860	3	31989701	Missense_Mutation	SNP	G	C3N-00294_TP	7799476	31989701	166305858	309	13811											
DYNC1LI1	0	.	GRCh38	chr3	32526879	32526879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtgtaattctgtctagttCtgcatgaacatctaagacag	11	14	8	8	1	4	2	0	1	4	1	5	2	4	2	0	0	2	3	0	0	4	5	rs769865357		C3N-00294_TP	C3N-00294_NB	C	C																c.1492G>A	p.Glu498Lys	p.E498K	ENST00000273130	13/13	104	92	12	162	162	0	strelka-mutect	DYNC1LI1,missense_variant,p.Glu498Lys,ENST00000273130,NM_016141.3;DYNC1LI1,missense_variant,p.Glu382Lys,ENST00000432458,;DYNC1LI1,non_coding_transcript_exon_variant,,ENST00000481915,;DYNC1LI1,downstream_gene_variant,,ENST00000472985,;	T	ENST00000273130	Transcript	missense_variant	1596/2504	1492/1572	498/523	E/K	Gaa/Aaa	rs769865357	1		-1	DYNC1LI1	HGNC	HGNC:18745	protein_coding	YES	CCDS2654.1	ENSP00000273130	Q9Y6G9		UPI000013D99D	NM_016141.3	deleterious(0)		13/13		hmmpanther:PTHR12688:SF2,hmmpanther:PTHR12688,Pfam_domain:PF05783																	MODERATE	1	SNV	1			1										PASS		rs769865357	.												T	3	4	46	32526879	32526879	C	T	1	0	0	0	0	1	0	0	0	4668	922	32	3		3	DYNC1LI1	3	32526879	Missense_Mutation	SNP	C	C3N-00294_TP	537178	32526879	165768680	310	13812											
SCN11A	0	.	GRCh38	chr3	38897121	38897121	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaataaagatcacaatGaccaggaccacagtcaggct	18	5	9	9	0	2	3	2	1	0	2	2	5	2	4	2	2	0	1	2	2	5	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2127C>A	p.=	p.V709V	ENST00000302328	14/26	264	208	56	285	285	0	strelka-varscan-mutect	SCN11A,synonymous_variant,p.=,ENST00000302328,NM_014139.2,NM_001287223.1;SCN11A,synonymous_variant,p.=,ENST00000444237,;SCN11A,synonymous_variant,p.=,ENST00000456224,;	T	ENST00000302328	Transcript	synonymous_variant	2326/6500	2127/5376	709/1791	V	gtC/gtA		1		-1	SCN11A	HGNC	HGNC:10583	protein_coding	YES	CCDS33737.1	ENSP00000307599	Q9UI33		UPI000006CCD7	NM_014139.2,NM_001287223.1			14/26		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF210,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	46	38897121	38897121	G	T	1	0	0	0	0	0	0	0	1	14182	1277	45	2		2	SCN11A	3	38897121	Silent	SNP	G	C3N-00294_TP	6370242	38897121	159398438	311	13813											
XIRP1	0	.	GRCh38	chr3	39185822	39185822	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagacttctgccatcgccttCcctggtggcccccaggccat	5	9	9	18	1	1	1	0	0	1	1	3	1	2	1	6	3	1	0	6	3	0	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3624G>A	p.=	p.G1208G	ENST00000340369	2/2	80	60	20	99	99	0	strelka-varscan-mutect	XIRP1,synonymous_variant,p.=,ENST00000340369,NM_194293.2;XIRP1,intron_variant,,ENST00000396251,NM_001198621.2;XIRP1,intron_variant,,ENST00000421646,;	T	ENST00000340369	Transcript	synonymous_variant	3853/6460	3624/5532	1208/1843	G	ggG/ggA		1		-1	XIRP1	HGNC	HGNC:14301	protein_coding	YES	CCDS2683.1	ENSP00000343140	Q702N8		UPI00001BFB06	NM_194293.2			2/2		hmmpanther:PTHR22591																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	39185822	39185822	C	T	1	0	0	0	0	0	0	0	1	17988	842	30	3		3	XIRP1	3	39185822	Silent	SNP	C	C3N-00294_TP	288701	39185822	159109737	312	13814											
ENTPD3	0	.	GRCh38	chr3	40415842	40415842	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttttcccactgtgcagaaGaacctgtggcacatgtgggt	8	11	11	11	0	0	2	0	0	0	2	1	2	1	2	3	2	2	2	3	2	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.600G>C	p.Lys200Asn	p.K200N	ENST00000301825	7/11	126	101	25	107	107	0	strelka-varscan-mutect	ENTPD3,missense_variant,p.Lys200Asn,ENST00000301825,NM_001248.3;ENTPD3,missense_variant,p.Lys200Asn,ENST00000456402,NM_001291960.1;ENTPD3,missense_variant,p.Lys200Asn,ENST00000445129,NM_001291961.1;ENTPD3-AS1,intron_variant,,ENST00000425156,;ENTPD3-AS1,intron_variant,,ENST00000452768,;ENTPD3-AS1,intron_variant,,ENST00000439293,;	C	ENST00000301825	Transcript	missense_variant,splice_region_variant	718/2819	600/1590	200/529	K/N	aaG/aaC		1		1	ENTPD3	HGNC	HGNC:3365	protein_coding	YES	CCDS2691.1	ENSP00000301825	O75355		UPI000013E75E	NM_001248.3	deleterious(0)		7/11		hmmpanther:PTHR11782:SF38,hmmpanther:PTHR11782,Pfam_domain:PF01150																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	40415842	40415842	G	C	1	0	0	0	0	1	0	0	0	4985	956	33	4		4	ENTPD3	3	40415842	Missense_Mutation	SNP	G	C3N-00294_TP	1230020	40415842	157879717	313	13815											
RPL14	0	.	GRCh38	chr3	40461956	40461956	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaggaacagaataatcaaGaatgaagttaagaagcttca	20	7	9	5	0	2	5	2	1	0	4	2	6	2	6	0	1	2	2	0	1	8	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.372G>A	p.=	p.K124K	ENST00000338970	6/6	119	90	29	105	104	1	strelka-varscan-mutect	RPL14,missense_variant,p.Glu124Lys,ENST00000416518,;RPL14,synonymous_variant,p.=,ENST00000338970,NM_003973.4;RPL14,synonymous_variant,p.=,ENST00000396203,NM_001034996.2;RPL14,downstream_gene_variant,,ENST00000461368,;RPL14,3_prime_UTR_variant,,ENST00000435633,;RPL14,non_coding_transcript_exon_variant,,ENST00000479563,;RPL14,non_coding_transcript_exon_variant,,ENST00000481798,;RPL14,downstream_gene_variant,,ENST00000465325,;RPL14,downstream_gene_variant,,ENST00000465280,;	A	ENST00000338970	Transcript	synonymous_variant	441/7072	372/648	124/215	K	aaG/aaA		1		1	RPL14	HGNC	HGNC:10305	protein_coding	YES	CCDS33739.1	ENSP00000345156	P50914		UPI0000367134	NM_003973.4			6/6		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11127																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	40461956	40461956	G	A	1	0	0	0	0	0	0	0	1	13813	943	33	3		3	RPL14	3	40461956	Silent	SNP	G	C3N-00294_TP	46114	40461956	157833603	314	13816											
ZNF619	0	.	GRCh38	chr3	40482308	40482308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtcttcattccttccatCttccagttccctggagctga	6	15	6	14	0	3	1	1	1	2	0	7	2	7	2	4	1	1	2	4	1	0	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.257C>G	p.Ser86Cys	p.S86C	ENST00000447116	4/6	165	140	25	194	194	0	strelka-varscan-mutect	ZNF619,missense_variant,p.Ser86Cys,ENST00000447116,NM_001145082.2;ZNF619,missense_variant,p.Ser86Cys,ENST00000521353,;ZNF619,intron_variant,,ENST00000429348,;ZNF619,intron_variant,,ENST00000314686,;ZNF619,intron_variant,,ENST00000456778,NM_001145083.1;ZNF619,intron_variant,,ENST00000522736,;ZNF619,intron_variant,,ENST00000432264,NM_001145093.2;ZNF619,intron_variant,,ENST00000520737,;ZNF619,3_prime_UTR_variant,,ENST00000494154,;ZNF619,downstream_gene_variant,,ENST00000462961,;	G	ENST00000447116	Transcript	missense_variant	564/4153	257/1851	86/616	S/C	tCt/tGt		1		1	ZNF619	HGNC	HGNC:26910	protein_coding	YES	CCDS46802.1	ENSP00000411132	Q8N2I2		UPI000192B90D	NM_001145082.2	tolerated_low_confidence(0.06)		4/6		PROSITE_profiles:PS50805,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs1344632506	.												G	3	3	46	40482308	40482308	C	G	1	0	0	0	0	1	0	0	0	18618	913	32	4		4	ZNF619	3	40482308	Missense_Mutation	SNP	C	C3N-00294_TP	20352	40482308	157813251	315	13817											
NBEAL2	0	.	GRCh38	chr3	47001767	47001767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggcacagctgatctccgtGagatggcgcagattggccta	9	8	13	11	3	1	3	0	2	1	2	2	4	1	3	2	3	1	3	2	3	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4723G>A	p.Glu1575Lys	p.E1575K	ENST00000450053	30/54	220	168	52	240	240	0	strelka-varscan-mutect	NBEAL2,missense_variant,p.Glu1575Lys,ENST00000450053,NM_015175.2;NBEAL2,missense_variant,p.Glu863Lys,ENST00000416683,;NBEAL2,upstream_gene_variant,,ENST00000443829,;NBEAL2,upstream_gene_variant,,ENST00000423436,;NBEAL2,non_coding_transcript_exon_variant,,ENST00000475689,;NBEAL2,upstream_gene_variant,,ENST00000486870,;NBEAL2,upstream_gene_variant,,ENST00000441027,;	A	ENST00000450053	Transcript	missense_variant	4902/8827	4723/8265	1575/2754	E/K	Gag/Aag		1		1	NBEAL2	HGNC	HGNC:31928	protein_coding	YES	CCDS46817.1	ENSP00000415034	Q6ZNJ1		UPI000022C020	NM_015175.2	tolerated(0.26)		30/54		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF50																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	46	47001767	47001767	G	A	1	0	0	0	0	1	0	0	0	10200	1291	45	3		3	NBEAL2	3	47001767	Missense_Mutation	SNP	G	C3N-00294_TP	6519459	47001767	151293792	316	13818											
CCDC51	0	.	GRCh38	chr3	48432521	48432521	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgggcttctagtctctgctCcgtgtctgacagtgccaaga	6	13	11	11	1	3	2	0	1	3	1	5	2	4	2	2	1	2	2	2	1	2	3	rs776584834		C3N-00294_TP	C3N-00294_NB	C	C																c.1123G>C	p.Glu375Gln	p.E375Q	ENST00000395694	4/4	342	307	35	392	392	0	strelka-varscan-mutect	CCDC51,missense_variant,p.Glu375Gln,ENST00000395694,NM_024661.4,NM_001256964.1;CCDC51,missense_variant,p.Glu266Gln,ENST00000442740,NM_001256965.2;CCDC51,missense_variant,p.Glu266Gln,ENST00000447018,NM_001256966.2,NM_001256967.2;CCDC51,missense_variant,p.Glu266Gln,ENST00000412398,NM_001256969.2,NM_001256968.2;PLXNB1,upstream_gene_variant,,ENST00000358536,NM_002673.5;PLXNB1,upstream_gene_variant,,ENST00000296440,NM_001130082.2;CCDC51,downstream_gene_variant,,ENST00000446140,;CCDC51,downstream_gene_variant,,ENST00000438370,;PLXNB1,upstream_gene_variant,,ENST00000466353,;	G	ENST00000395694	Transcript	missense_variant	1209/1560	1123/1236	375/411	E/Q	Gag/Cag	rs776584834	1		-1	CCDC51	HGNC	HGNC:25714	protein_coding	YES	CCDS2766.2	ENSP00000379047	Q96ER9		UPI00005A7643	NM_024661.4,NM_001256964.1	tolerated(0.2)		4/4		hmmpanther:PTHR28624,hmmpanther:PTHR28624:SF1																	MODERATE		SNV	2			1										PASS		rs776584834	.												G	3	3	46	48432521	48432521	C	G	1	0	0	0	0	1	0	0	0	2526	864	30	4		4	CCDC51	3	48432521	Missense_Mutation	SNP	C	C3N-00294_TP	1430754	48432521	149863038	317	13819											
USP19	0	.	GRCh38	chr3	49112376	49112376	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggctgcacacttggaGatggggacgctgggcacctg	7	7	17	10	1	0	1	0	0	0	1	0	3	0	2	1	6	1	5	1	6	0	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2667C>A	p.=	p.I889I	ENST00000434032	19/27	248	201	47	269	269	0	strelka-varscan-mutect	USP19,synonymous_variant,p.=,ENST00000453664,NM_001199162.1;USP19,synonymous_variant,p.=,ENST00000417901,NM_001199161.1;USP19,synonymous_variant,p.=,ENST00000434032,NM_001199160.1;USP19,synonymous_variant,p.=,ENST00000398892,;USP19,synonymous_variant,p.=,ENST00000398888,NM_006677.2;USP19,synonymous_variant,p.=,ENST00000398898,;USP19,synonymous_variant,p.=,ENST00000398896,;USP19,downstream_gene_variant,,ENST00000306026,;USP19,downstream_gene_variant,,ENST00000479073,;USP19,downstream_gene_variant,,ENST00000488993,;USP19,downstream_gene_variant,,ENST00000491859,;USP19,downstream_gene_variant,,ENST00000464931,;USP19,upstream_gene_variant,,ENST00000483667,;USP19,downstream_gene_variant,,ENST00000480163,;	T	ENST00000434032	Transcript	synonymous_variant	2879/4677	2667/4260	889/1419	I	atC/atA		1		-1	USP19	HGNC	HGNC:12617	protein_coding	YES	CCDS56254.1	ENSP00000401197	O94966		UPI000198CAB3	NM_001199160.1			19/27		PROSITE_profiles:PS50235,Pfam_domain:PF00443,Superfamily_domains:SSF144232																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	46	49112376	49112376	G	T	1	0	0	0	0	0	0	0	1	17591	932	33	2		2	USP19	3	49112376	Silent	SNP	G	C3N-00294_TP	679855	49112376	149183183	318	13820											
HYAL1	0	.	GRCh38	chr3	50300543	50300543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagggtagcatcgacatttGaactccacagccatctgtgc	10	9	9	13	1	1	1	0	1	1	0	3	2	2	1	3	1	4	2	3	1	2	2	rs782144670		C3N-00294_TP	C3N-00294_NB	G	G																c.1248C>G	p.Phe416Leu	p.F416L	ENST00000266031	3/3	381	311	70	434	434	0	strelka-varscan-mutect	HYAL1,missense_variant,p.Phe416Leu,ENST00000266031,;HYAL1,missense_variant,p.Phe416Leu,ENST00000320295,NM_153281.1;HYAL1,missense_variant,p.Phe416Leu,ENST00000618175,;HYAL1,missense_variant,p.Phe416Leu,ENST00000395144,NM_033159.3;HYAL1,missense_variant,p.Phe386Leu,ENST00000395143,NM_153282.2;HYAL1,missense_variant,p.Phe234Leu,ENST00000457214,NM_153283.2;HYAL1,missense_variant,p.Phe157Leu,ENST00000447605,NM_153285.2;HYAL3,upstream_gene_variant,,ENST00000336307,NM_003549.3;NAT6,upstream_gene_variant,,ENST00000443842,;HYAL3,upstream_gene_variant,,ENST00000621157,NM_001200029.1;HYAL3,upstream_gene_variant,,ENST00000359051,;NAT6,upstream_gene_variant,,ENST00000443094,NM_001200016.1;HYAL3,upstream_gene_variant,,ENST00000450982,NM_001200030.1;NAT6,upstream_gene_variant,,ENST00000354862,NM_012191.3;NAT6,upstream_gene_variant,,ENST00000417393,NM_001200018.1;HYAL3,upstream_gene_variant,,ENST00000415204,NM_001200031.1;NAT6,upstream_gene_variant,,ENST00000442620,;NAT6,upstream_gene_variant,,ENST00000450489,;HYAL3,upstream_gene_variant,,ENST00000513170,NM_001200032.1;NAT6,upstream_gene_variant,,ENST00000452674,;HYAL1,downstream_gene_variant,,ENST00000418723,;HYAL1,downstream_gene_variant,,ENST00000452672,;HYAL3,upstream_gene_variant,,ENST00000435141,;	C	ENST00000266031	Transcript	missense_variant	1864/2517	1248/1308	416/435	F/L	ttC/ttG	rs782144670	1		-1	HYAL1	HGNC	HGNC:5320	protein_coding	YES	CCDS2816.1	ENSP00000266031	Q12794	A0A024R2X3	UPI000003FD9D		deleterious(0)		3/3		hmmpanther:PTHR11769:SF23,hmmpanther:PTHR11769,PIRSF_domain:PIRSF038193,Gene3D:2.10.25.10																	MODERATE	1	SNV	1			1										PASS		rs782144670	.												C	3	2	46	50300543	50300543	G	C	1	0	0	0	0	1	0	0	0	7359	1281	45	4		4	HYAL1	3	50300543	Missense_Mutation	SNP	G	C3N-00294_TP	1188167	50300543	147995016	319	13821											
DCAF1	0	.	GRCh38	chr3	51418706	51418706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcaagatgtgtgatggctGagttgtgacagttatagctg	9	14	14	4	0	1	4	1	3	0	1	1	4	1	4	0	1	1	5	0	1	3	4			C3N-00294_TP	C3N-00294_NB	G	G																c.3407C>T	p.Ser1136Leu	p.S1136L	ENST00000423656	15/25	104	76	28	125	125	0	strelka-varscan-mutect	DCAF1,missense_variant,p.Ser1135Leu,ENST00000504652,NM_001171904.1;DCAF1,missense_variant,p.Ser1136Leu,ENST00000423656,NM_014703.2;DCAF1,missense_variant,p.Ser687Leu,ENST00000335891,;	A	ENST00000423656	Transcript	missense_variant	3537/5946	3407/4524	1136/1507	S/L	tCa/tTa	COSM446776	1		-1	DCAF1	HGNC	HGNC:30911	protein_coding	YES	CCDS74943.1	ENSP00000393183	Q9Y4B6		UPI00000716AC	NM_014703.2	deleterious(0)		15/25		hmmpanther:PTHR13129,hmmpanther:PTHR13129:SF4,Gene3D:2.130.10.10,Superfamily_domains:SSF50978											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	46	51418706	51418706	G	A	1	0	0	0	0	1	0	0	0	4061	1294	45	3		3	DCAF1	3	51418706	Missense_Mutation	SNP	G	C3N-00294_TP	1118163	51418706	146876853	320	13822											
ACY1	0	.	GRCh38	chr3	51988989	51988989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacgatgaacggctgcatGaggctgtgttcctccgtggg	7	9	14	11	3	0	2	0	2	0	0	2	3	2	2	3	3	2	4	3	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1710G>A	p.Glu571Lys	p.E571K	ENST00000637978	17/17	535	415	120	574	574	0	strelka-varscan-mutect	ABHD14A-ACY1,missense_variant,p.Glu571Lys,ENST00000637978,;ABHD14A-ACY1,missense_variant,p.Glu482Lys,ENST00000463937,;ACY1,missense_variant,p.Glu381Lys,ENST00000636358,NM_001198895.1,NM_000666.2;ACY1,missense_variant,p.Glu381Lys,ENST00000404366,;ACY1,missense_variant,p.Glu346Lys,ENST00000476351,NM_001198898.1;ACY1,missense_variant,p.Glu316Lys,ENST00000476854,NM_001198897.1;ACY1,missense_variant,p.Glu309Lys,ENST00000494103,NM_001198896.1;ACY1,missense_variant,p.Glu346Lys,ENST00000635797,;ACY1,3_prime_UTR_variant,,ENST00000637149,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000637222,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000635952,;ACY1,downstream_gene_variant,,ENST00000469863,;RPL29,downstream_gene_variant,,ENST00000466397,;RPL29,downstream_gene_variant,,ENST00000294189,NM_000992.2;RPL29,downstream_gene_variant,,ENST00000495383,;RPL29,downstream_gene_variant,,ENST00000479017,;RPL29,downstream_gene_variant,,ENST00000475248,;RPL29,downstream_gene_variant,,ENST00000492277,;ACY1,downstream_gene_variant,,ENST00000636047,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000637778,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000637130,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000635937,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000636490,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000636826,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000637025,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000637730,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000637563,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000636718,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000635946,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000637696,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000636089,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000635951,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000636646,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000463721,NM_001316331.1;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000636942,;ACY1,3_prime_UTR_variant,,ENST00000635941,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000637512,;ACY1,3_prime_UTR_variant,,ENST00000636880,;ACY1,3_prime_UTR_variant,,ENST00000491318,;ABHD14A-ACY1,3_prime_UTR_variant,,ENST00000636660,;ACY1,non_coding_transcript_exon_variant,,ENST00000638136,;ACY1,non_coding_transcript_exon_variant,,ENST00000490244,;ACY1,non_coding_transcript_exon_variant,,ENST00000637199,;ACY1,non_coding_transcript_exon_variant,,ENST00000637034,;ACY1,non_coding_transcript_exon_variant,,ENST00000637746,;ACY1,non_coding_transcript_exon_variant,,ENST00000638077,;ACY1,downstream_gene_variant,,ENST00000637251,;ACY1,downstream_gene_variant,,ENST00000465121,;ACY1,downstream_gene_variant,,ENST00000637102,;ACY1,downstream_gene_variant,,ENST00000638096,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000636085,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000486081,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000635785,;ACY1,downstream_gene_variant,,ENST00000636556,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000497128,;ACY1,downstream_gene_variant,,ENST00000637460,;ACY1,downstream_gene_variant,,ENST00000496679,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000636029,;RPL29,downstream_gene_variant,,ENST00000480306,;ACY1,downstream_gene_variant,,ENST00000637349,;ACY1,downstream_gene_variant,,ENST00000637209,;ACY1,downstream_gene_variant,,ENST00000468068,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000637461,;ACY1,downstream_gene_variant,,ENST00000464587,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000636264,;	A	ENST00000637978	Transcript	missense_variant	1710/1758	1711/1759	571/586	E/K	Gag/Aag		1		1	ABHD14A-ACY1	HGNC	HGNC:38856	protein_coding	YES		ENSP00000490744					tolerated(0.36)		17/17		hmmpanther:PTHR11014,hmmpanther:PTHR11014:SF90,TIGRFAM_domain:TIGR01880,Pfam_domain:PF01546,Superfamily_domains:SSF53187																	MODERATE		SNV				1										PASS		.	.												A	3	1	46	51988989	51988989	G	A	1	0	0	0	0	1	0	0	0	270	1291	45	3		3	ACY1	3	51988989	Missense_Mutation	SNP	G	C3N-00294_TP	570283	51988989	146306570	321	13823											
GNL3	0	.	GRCh38	chr3	52693542	52693542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacaatgcacagagcataaGaggtgagaattgtgtgtcgc	14	8	13	6	1	0	3	0	1	0	3	1	5	0	3	0	1	3	2	0	1	4	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1322G>A	p.Arg441Lys	p.R441K	ENST00000418458	12/15	134	121	13	111	111	0	strelka-mutect	GNL3,missense_variant,p.Arg429Lys,ENST00000394799,NM_206826.1,NM_206825.1;GNL3,missense_variant,p.Arg441Lys,ENST00000418458,NM_014366.4;GLT8D1,downstream_gene_variant,,ENST00000266014,NM_018446.3;GLT8D1,downstream_gene_variant,,ENST00000478968,NM_001278280.1,NM_001010983.2,NM_001278281.1;GLT8D1,downstream_gene_variant,,ENST00000394783,NM_152932.2;GLT8D1,downstream_gene_variant,,ENST00000491606,;GLT8D1,downstream_gene_variant,,ENST00000497953,;GLT8D1,downstream_gene_variant,,ENST00000487642,;GLT8D1,downstream_gene_variant,,ENST00000489119,;GLT8D1,downstream_gene_variant,,ENST00000479553,;GLT8D1,downstream_gene_variant,,ENST00000497436,;GNL3,downstream_gene_variant,,ENST00000479230,;SNORD19B,downstream_gene_variant,,ENST00000459623,;SNORD19B,downstream_gene_variant,,ENST00000630615,;SNORD69,downstream_gene_variant,,ENST00000391150,;SNORD19,downstream_gene_variant,,ENST00000410413,;SNORD19,downstream_gene_variant,,ENST00000516978,;SNORD19,downstream_gene_variant,,ENST00000391191,;GLT8D1,downstream_gene_variant,,ENST00000463827,;GNL3,downstream_gene_variant,,ENST00000468146,;GNL3,splice_region_variant,,ENST00000496254,;GNL3,splice_region_variant,,ENST00000497356,;GLT8D1,downstream_gene_variant,,ENST00000484163,;GLT8D1,downstream_gene_variant,,ENST00000480080,;GLT8D1,downstream_gene_variant,,ENST00000485899,;GLT8D1,downstream_gene_variant,,ENST00000481643,;GNL3,downstream_gene_variant,,ENST00000492349,;GNL3,downstream_gene_variant,,ENST00000484022,;	A	ENST00000418458	Transcript	missense_variant,splice_region_variant	1495/2040	1322/1650	441/549	R/K	aGa/aAa		1		1	GNL3	HGNC	HGNC:29931	protein_coding	YES	CCDS2861.1	ENSP00000395772	Q9BVP2		UPI000003C48A	NM_014366.4	tolerated(0.73)		12/15		hmmpanther:PTHR11089,hmmpanther:PTHR11089:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	52693542	52693542	G	A	1	0	0	0	0	1	0	0	0	6416	956	33	3		3	GNL3	3	52693542	Missense_Mutation	SNP	G	C3N-00294_TP	704553	52693542	145602017	322	13824											
FLNB	0	.	GRCh38	chr3	58153431	58153431	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccctctggccgtgtgactGaggcagagattgtgcccatg	6	9	14	12	1	1	3	0	2	1	1	1	4	1	3	4	2	1	1	4	2	0	1	rs774757964		C3N-00294_TP	C3N-00294_NB	G	G																c.6517G>C	p.Glu2173Gln	p.E2173Q	ENST00000490882	40/47	301	229	72	362	362	0	strelka-varscan-mutect	FLNB,missense_variant,p.Glu2142Gln,ENST00000295956,NM_001457.3;FLNB,missense_variant,p.Glu2131Gln,ENST00000429972,NM_001164318.1;FLNB,missense_variant,p.Glu2118Gln,ENST00000358537,NM_001164319.1;FLNB,missense_variant,p.Glu2173Gln,ENST00000490882,NM_001164317.1;FLNB,missense_variant,p.Glu1949Gln,ENST00000493452,;FLNB,missense_variant,p.Glu66Gln,ENST00000466455,;FLNB,non_coding_transcript_exon_variant,,ENST00000481470,;FLNB,downstream_gene_variant,,ENST00000477629,;FLNB,upstream_gene_variant,,ENST00000468939,;FLNB,upstream_gene_variant,,ENST00000475487,;FLNB,downstream_gene_variant,,ENST00000470231,;	C	ENST00000490882	Transcript	missense_variant	6682/8079	6517/7902	2173/2633	E/Q	Gag/Cag	rs774757964	1		1	FLNB	HGNC	HGNC:3755	protein_coding	YES	CCDS54599.1	ENSP00000420213	O75369		UPI0001765F91	NM_001164317.1	tolerated(0.23)		40/47		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF238,SMART_domains:SM00557,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		rs774757964	.												C	3	2	46	58153431	58153431	G	C	1	0	0	0	0	1	0	0	0	5790	1291	45	4		4	FLNB	3	58153431	Missense_Mutation	SNP	G	C3N-00294_TP	5459889	58153431	140142128	323	13825											
PDZRN3	0	.	GRCh38	chr3	73624655	73624655	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttggccgacaggcgaccGcggcagcgcgccgggcagct	5	5	16	15	7	1	0	0	0	1	0	1	2	1	0	3	4	2	3	3	4	0	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.171C>T	p.=	p.R57R	ENST00000263666	1/10	112	93	19	104	104	0	strelka-varscan-mutect	PDZRN3,synonymous_variant,p.=,ENST00000263666,NM_015009.2;PDZRN3,synonymous_variant,p.=,ENST00000308537,;PDZRN3-AS1,intron_variant,,ENST00000478988,;PDZRN3-AS1,intron_variant,,ENST00000608743,;PDZRN3-AS1,intron_variant,,ENST00000608304,;PDZRN3-AS1,intron_variant,,ENST00000619517,;CTD-2006M22.2,non_coding_transcript_exon_variant,,ENST00000625169,;	A	ENST00000263666	Transcript	synonymous_variant	286/4248	171/3201	57/1066	R	cgC/cgT		1		-1	PDZRN3	HGNC	HGNC:17704	protein_coding	YES	CCDS33789.1	ENSP00000263666	Q9UPQ7		UPI00001C1DE6	NM_015009.2			1/10		Gene3D:3.30.40.10,Superfamily_domains:SSF57850																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	73624655	73624655	G	A	1	0	0	0	0	0	0	0	1	11797	1074	38	1		1	PDZRN3	3	73624655	Silent	SNP	G	C3N-00294_TP	15471224	73624655	124670904	324	13826											
EPHA6	0	.	GRCh38	chr3	97475449	97475449	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctcactttattcttcttGatcactgggaggtaactgaa	10	15	7	9	0	4	2	2	2	2	0	5	3	5	3	1	2	1	1	1	2	3	6	rs765093976		C3N-00294_TP	C3N-00294_NB	G	G																c.1992G>A	p.=	p.L664L	ENST00000389672	8/18	132	102	30	115	115	0	strelka-varscan-mutect	EPHA6,synonymous_variant,p.=,ENST00000389672,NM_001080448.2;EPHA6,synonymous_variant,p.=,ENST00000514100,NM_001278300.1;EPHA6,synonymous_variant,p.=,ENST00000502694,NM_173655.3;EPHA6,synonymous_variant,p.=,ENST00000477384,;EPHA6,synonymous_variant,p.=,ENST00000503760,;EPHA6,synonymous_variant,p.=,ENST00000508345,;	A	ENST00000389672	Transcript	synonymous_variant	2030/3971	1992/3393	664/1130	L	ttG/ttA	rs765093976,COSM3683179,COSM3683180,COSM3683181	1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2			8/18		Pfam_domain:PF14575,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix											0,1,1,1						LOW	1	SNV	2		0,1,1,1	1										PASS		rs765093976	.												A	2	1	46	97475449	97475449	G	A	1	0	0	0	0	0	0	0	1	5018	1281	45	3		3	EPHA6	3	97475449	Silent	SNP	G	C3N-00294_TP	23850794	97475449	100820110	325	13827											
GABRR3	0	.	GRCh38	chr3	98017678	98017678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttagtctctgaaatgctgtCaatgctttcaacatggacat	11	14	8	8	0	3	1	2	1	1	0	4	2	3	2	0	1	3	3	0	1	4	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.283G>A	p.Asp95Asn	p.D95N	ENST00000621172	4/10	135	112	23	215	215	0	strelka-varscan-mutect	GABRR3,missense_variant,p.Asp95Asn,ENST00000621172,NM_001105580.2;GABRR3,missense_variant,p.Asp95Asn,ENST00000472788,;GABRR3,non_coding_transcript_exon_variant,,ENST00000470589,;	T	ENST00000621172	Transcript	missense_variant	400/1521	283/1404	95/467	D/N	Gac/Aac		1		-1	GABRR3	HGNC	HGNC:17969	protein_coding	YES	CCDS54617.1	ENSP00000481321	A8MPY1		UPI000003F558	NM_001105580.2	deleterious(0.02)		4/10		hmmpanther:PTHR18945:SF196,hmmpanther:PTHR18945,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	98017678	98017678	C	T	1	0	0	0	0	1	0	0	0	6049	826	29	3		3	GABRR3	3	98017678	Missense_Mutation	SNP	C	C3N-00294_TP	542229	98017678	100277881	326	13828											
OR5H15	0	.	GRCh38	chr3	98168730	98168730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatgcaacattgctgacaGagtttgttctcacaggattt	13	13	8	7	0	1	2	1	1	1	1	2	3	1	3	0	1	3	4	0	1	3	4			C3N-00294_TP	C3N-00294_NB	G	G																c.31G>A	p.Glu11Lys	p.E11K	ENST00000356526	1/1	123	105	18	121	121	0	varscan-mutect	OR5H15,missense_variant,p.Glu11Lys,ENST00000356526,NM_001005515.1;OR5H15,missense_variant,p.Glu11Lys,ENST00000615035,;	A	ENST00000356526	Transcript	missense_variant	31/942	31/942	11/313	E/K	Gag/Aag	COSM585111	1		1	OR5H15	HGNC	HGNC:31287	protein_coding	YES	CCDS33799.1	ENSP00000373195	A6NDH6		UPI00001606CE	NM_001005515.1	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF325,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		rs1445190708	.												A	3	1	46	98168730	98168730	G	A	1	0	0	0	0	1	0	0	0	11231	943	33	3		3	OR5H15	3	98168730	Missense_Mutation	SNP	G	C3N-00294_TP	151052	98168730	100126829	327	13829											
IMPG2	0	.	GRCh38	chr3	101243666	101243666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtctgggtataactcaagtCatctcctccttctgtgggcc	7	13	9	12	0	5	0	2	0	3	0	7	0	6	0	3	2	1	1	3	2	3	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2665G>A	p.Asp889Asn	p.D889N	ENST00000193391	13/19	144	116	28	138	137	1	strelka-varscan-mutect	IMPG2,missense_variant,p.Asp889Asn,ENST00000193391,NM_016247.3;	T	ENST00000193391	Transcript	missense_variant	2853/8337	2665/3726	889/1241	D/N	Gac/Aac		1		-1	IMPG2	HGNC	HGNC:18362	protein_coding	YES	CCDS2940.1	ENSP00000193391	Q9BZV3	F1T0J3	UPI000013C605	NM_016247.3	tolerated(1)		13/19		hmmpanther:PTHR12199,hmmpanther:PTHR12199:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	101243666	101243666	C	T	1	0	0	0	0	1	0	0	0	7631	826	29	3		3	IMPG2	3	101243666	Missense_Mutation	SNP	C	C3N-00294_TP	3074936	101243666	97051893	328	13830											
DZIP3	0	.	GRCh38	chr3	108684333	108684334	+	Frame_Shift_Ins	INS	-	-	C																															tgcaactggccaacctagagINScccccctggtaaaagctttc																								novel		C3N-00294_TP	C3N-00294_NB	-	-																c.3007dupC	p.Leu1003ProfsTer26	p.L1003Pfs*26	ENST00000361582	27/33	130	102	28	138	138	0	sindel-varindel-pindel	DZIP3,frameshift_variant,p.Leu1003ProfsTer26,ENST00000361582,NM_014648.3;DZIP3,frameshift_variant,p.Leu1003ProfsTer26,ENST00000463306,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;	C	ENST00000361582	Transcript	frameshift_variant	3231-3232/5350	3001-3002/3627	1001/1208	A/AX	gcc/gCcc		1		1	DZIP3	HGNC	HGNC:30938	protein_coding	YES	CCDS2952.1	ENSP00000355028	Q86Y13		UPI000006E7D4	NM_014648.3			27/33		hmmpanther:PTHR22763,hmmpanther:PTHR22763:SF55																	HIGH	1	insertion	1	6		1										PASS		.	.												C	7	5	46	108684333	108684333	-	C	1	0	1	1	0	0	0	0	0	4689	971	34	0		0	DZIP3	3	108684333	Frame_Shift_Ins	INS	-	C3N-00294_TP	7440667	108684333	89611226	329	13831											
TAGLN3	0	.	GRCh38	chr3	112000833	112000833	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagcccatacccaagatctCagagtcaaagatggctttta	14	9	8	10	0	2	4	2	0	1	4	3	4	2	4	2	1	2	1	2	1	4	3			C3N-00294_TP	C3N-00294_NB	C	C																c.242C>G	p.Ser81Ter	p.S81*	ENST00000393917	3/5	147	119	28	132	132	0	strelka-varscan-mutect	TAGLN3,stop_gained,p.Ser81Ter,ENST00000393917,NM_013259.2;TAGLN3,stop_gained,p.Ser81Ter,ENST00000273368,;TAGLN3,stop_gained,p.Ser81Ter,ENST00000478951,NM_001008272.1;TAGLN3,stop_gained,p.Ser81Ter,ENST00000455401,NM_001008273.1;TAGLN3,stop_gained,p.Ser21Ter,ENST00000469385,;TAGLN3,5_prime_UTR_variant,,ENST00000486460,;TAGLN3,intron_variant,,ENST00000494932,;	G	ENST00000393917	Transcript	stop_gained	794/1488	242/600	81/199	S/*	tCa/tGa	COSM367329,COSM367330	1		1	TAGLN3	HGNC	HGNC:29868	protein_coding	YES	CCDS33816.1	ENSP00000377494	Q9UI15		UPI00000738C2	NM_013259.2			3/5		PROSITE_profiles:PS50021,hmmpanther:PTHR18959,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576											1,1						HIGH	1	SNV	5		1,1	1										PASS		rs1218035526	.												G	4	3	46	112000833	112000833	C	G	1	0	0	0	0	0	1	0	0	15936	838	29	4		4	TAGLN3	3	112000833	Nonsense_Mutation	SNP	C	C3N-00294_TP	3316500	112000833	86294726	330	13832											
NEPRO	0	.	GRCh38	chr3	113005806	113005806	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactggtatctgtagcactCttccgagtcccttgagagaa	9	11	10	11	1	2	2	0	1	2	1	4	4	4	2	2	1	1	4	2	1	3	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1434G>A	p.=	p.K478K	ENST00000314400	9/9	189	171	18	237	237	0	strelka-varscan-mutect	NEPRO,synonymous_variant,p.=,ENST00000314400,NM_001319115.1,NM_001319114.1,NM_015412.3;NEPRO,synonymous_variant,p.=,ENST00000383675,NM_001319110.1,NM_001319109.1;GTPBP8,downstream_gene_variant,,ENST00000383677,NM_138485.1;GTPBP8,downstream_gene_variant,,ENST00000473129,;GTPBP8,downstream_gene_variant,,ENST00000619116,;GTPBP8,downstream_gene_variant,,ENST00000383678,NM_014170.2;GTPBP8,downstream_gene_variant,,ENST00000467752,;NEPRO,downstream_gene_variant,,ENST00000472762,;NEPRO,3_prime_UTR_variant,,ENST00000472637,;NEPRO,3_prime_UTR_variant,,ENST00000473284,;NEPRO,3_prime_UTR_variant,,ENST00000469169,;NEPRO,3_prime_UTR_variant,,ENST00000489848,;NEPRO,3_prime_UTR_variant,,ENST00000469809,;NEPRO,3_prime_UTR_variant,,ENST00000462295,;NEPRO,3_prime_UTR_variant,,ENST00000472705,;NEPRO,non_coding_transcript_exon_variant,,ENST00000486271,;NEPRO,non_coding_transcript_exon_variant,,ENST00000474311,;GTPBP8,intron_variant,,ENST00000485330,;NEPRO,downstream_gene_variant,,ENST00000461381,;NEPRO,downstream_gene_variant,,ENST00000482229,;NEPRO,downstream_gene_variant,,ENST00000496206,;GTPBP8,downstream_gene_variant,,ENST00000488781,;GTPBP8,downstream_gene_variant,,ENST00000295864,;NEPRO,downstream_gene_variant,,ENST00000464816,;	T	ENST00000314400	Transcript	synonymous_variant	1626/4992	1434/1704	478/567	K	aaG/aaA		1		-1	NEPRO	HGNC	HGNC:24496	protein_coding	YES	CCDS33824.1	ENSP00000320251	Q6NW34		UPI0000367197	NM_001319115.1,NM_001319114.1,NM_015412.3			9/9		hmmpanther:PTHR34761																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	113005806	113005806	C	T	1	0	0	0	0	0	0	0	1	10371	912	32	3		3	NEPRO	3	113005806	Silent	SNP	C	C3N-00294_TP	1004973	113005806	85289753	331	13833											
ARHGAP31	0	.	GRCh38	chr3	119409522	119409522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctaagaaggcaggtcttGaggatgccaaggcagtacct	12	8	12	9	0	1	2	0	1	1	1	1	3	1	3	3	4	3	3	3	4	5	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1672G>A	p.Glu558Lys	p.E558K	ENST00000264245	11/12	227	179	48	261	261	0	strelka-varscan-mutect	ARHGAP31,missense_variant,p.Glu558Lys,ENST00000264245,NM_020754.3;	A	ENST00000264245	Transcript	missense_variant	2204/9317	1672/4335	558/1444	E/K	Gag/Aag		1		1	ARHGAP31	HGNC	HGNC:29216	protein_coding	YES	CCDS43135.1	ENSP00000264245	Q2M1Z3		UPI00001C1DFD	NM_020754.3	deleterious(0.03)		11/12		hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	119409522	119409522	G	A	1	0	0	0	0	1	0	0	0	1005	1291	45	3		3	ARHGAP31	3	119409522	Missense_Mutation	SNP	G	C3N-00294_TP	6403716	119409522	78886037	332	13834											
ARHGAP31	0	.	GRCh38	chr3	119415852	119415852	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatgcagtagtgcaatgcaGaaagcgcatgtcagagacag	14	6	14	7	1	1	2	1	0	0	2	1	4	1	3	0	1	4	5	0	1	3	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3923G>C	p.Arg1308Thr	p.R1308T	ENST00000264245	12/12	185	149	36	186	186	0	strelka-varscan-mutect	ARHGAP31,missense_variant,p.Arg1308Thr,ENST00000264245,NM_020754.3;	C	ENST00000264245	Transcript	missense_variant	4455/9317	3923/4335	1308/1444	R/T	aGa/aCa		1		1	ARHGAP31	HGNC	HGNC:29216	protein_coding	YES	CCDS43135.1	ENSP00000264245	Q2M1Z3		UPI00001C1DFD	NM_020754.3	deleterious(0)		12/12		hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	119415852	119415852	G	C	1	0	0	0	0	1	0	0	0	1005	942	33	4		4	ARHGAP31	3	119415852	Missense_Mutation	SNP	G	C3N-00294_TP	6330	119415852	78879707	333	13835											
LRRC58	0	.	GRCh38	chr3	120348763	120348763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctgcaagttctcgatctCagccgggatgctctgcagtt	6	12	10	13	2	4	0	1	0	4	0	6	2	4	1	2	1	4	5	2	1	1	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.481G>A	p.Glu161Lys	p.E161K	ENST00000295628	1/4	53	39	14	64	64	0	strelka-varscan-mutect	LRRC58,missense_variant,p.Glu161Lys,ENST00000295628,NM_001099678.1;RP11-174O3.3,upstream_gene_variant,,ENST00000637360,;RP11-174O3.3,upstream_gene_variant,,ENST00000494869,;	T	ENST00000295628	Transcript	missense_variant	577/7903	481/1116	161/371	E/K	Gag/Aag		1		-1	LRRC58	HGNC	HGNC:26968	protein_coding	YES	CCDS46892.1	ENSP00000295628	Q96CX6		UPI00001C1DEE	NM_001099678.1	deleterious(0.04)		1/4		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	120348763	120348763	C	T	1	0	0	0	0	1	0	0	0	8909	835	29	3		3	LRRC58	3	120348763	Missense_Mutation	SNP	C	C3N-00294_TP	932911	120348763	77946796	334	13836											
FAM162A	0	.	GRCh38	chr3	122407280	122407280	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatctcattgtattactaGgttggagatgcttgatgctg	9	16	11	5	0	1	3	1	2	1	1	2	4	1	3	0	2	3	4	0	2	3	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.264-1G>C		p.X88_splice	ENST00000477892		72	57	15	54	54	0	strelka-varscan-mutect	FAM162A,splice_acceptor_variant,,ENST00000477892,NM_014367.3;FAM162A,splice_acceptor_variant,,ENST00000469967,;FAM162A,splice_acceptor_variant,,ENST00000232125,;	C	ENST00000477892	Transcript	splice_acceptor_variant	-/3052	264/465	88/154				1		1	FAM162A	HGNC	HGNC:17865	protein_coding	YES	CCDS43139.1	ENSP00000419088	Q96A26		UPI0000073F3F	NM_014367.3				3/4																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	46	122407280	122407280	G	C	1	0	0	0	0	0	0	1	0	5323	1014	35	4		4	FAM162A	3	122407280	Splice_Site	SNP	G	C3N-00294_TP	2058517	122407280	75888279	335	13837											
KLF15	0	.	GRCh38	chr3	126352481	126352481	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctccatgttctcctccaGaaactcttcaatctcctcca	9	12	4	16	0	4	1	1	0	3	1	9	1	7	1	5	1	1	2	5	1	2	2			C3N-00294_TP	C3N-00294_NB	G	G																c.442C>G	p.Leu148Val	p.L148V	ENST00000296233	2/3	231	197	34	268	268	0	strelka-varscan-mutect	KLF15,missense_variant,p.Leu148Val,ENST00000296233,NM_014079.3;KLF15,downstream_gene_variant,,ENST00000509675,;	C	ENST00000296233	Transcript	missense_variant	673/2574	442/1251	148/416	L/V	Ctg/Gtg	COSM1484551	1		-1	KLF15	HGNC	HGNC:14536	protein_coding	YES	CCDS3036.1	ENSP00000296233	Q9UIH9		UPI0000001659	NM_014079.3	deleterious(0)		2/3		Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	46	126352481	126352481	G	C	1	0	0	0	0	1	0	0	0	8208	933	33	4		4	KLF15	3	126352481	Missense_Mutation	SNP	G	C3N-00294_TP	3945201	126352481	71943078	336	13838											
DNAJC13	0	.	GRCh38	chr3	132453400	132453400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatcaggaaagagcctttaGaattcgagcaatatttgaat	15	11	10	5	1	1	3	1	1	0	2	2	6	1	5	1	2	2	1	1	2	6	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.640G>C	p.Glu214Gln	p.E214Q	ENST00000260818	7/56	214	177	37	310	310	0	strelka-varscan-mutect	DNAJC13,missense_variant,p.Glu214Gln,ENST00000260818,NM_015268.3;DNAJC13,non_coding_transcript_exon_variant,,ENST00000486798,;DNAJC13,upstream_gene_variant,,ENST00000471925,;	C	ENST00000260818	Transcript	missense_variant	888/7730	640/6732	214/2243	E/Q	Gaa/Caa		1		1	DNAJC13	HGNC	HGNC:30343	protein_coding	YES	CCDS33857.1	ENSP00000260818	O75165		UPI000022C1FD	NM_015268.3	deleterious(0.04)		7/56		hmmpanther:PTHR36983																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	132453400	132453400	G	C	1	0	0	0	0	1	0	0	0	4446	943	33	4		4	DNAJC13	3	132453400	Missense_Mutation	SNP	G	C3N-00294_TP	6100919	132453400	65842159	337	13839											
AMOTL2	0	.	GRCh38	chr3	134371273	134371273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggggccaggatctccaggGaggcctgggggctccctgta	5	7	17	12	0	1	0	0	0	1	0	3	2	2	2	4	7	0	2	4	7	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.335C>T	p.Ser112Phe	p.S112F	ENST00000514516	2/10	216	171	45	225	225	0	strelka-varscan-mutect	AMOTL2,missense_variant,p.Ser112Phe,ENST00000514516,NM_001278683.1;AMOTL2,missense_variant,p.Ser54Phe,ENST00000249883,NM_016201.3;AMOTL2,missense_variant,p.Ser54Phe,ENST00000422605,;AMOTL2,missense_variant,p.Ser54Phe,ENST00000513145,NM_001278685.1;AMOTL2,missense_variant,p.Ser54Phe,ENST00000510560,;AMOTL2,missense_variant,p.Ser54Phe,ENST00000515172,;AMOTL2,missense_variant,p.Ser54Phe,ENST00000504234,;AMOTL2,missense_variant,p.Ser54Phe,ENST00000506107,;AMOTL2,missense_variant,p.Ser54Phe,ENST00000505596,;AMOTL2,downstream_gene_variant,,ENST00000502491,;MIR6827,upstream_gene_variant,,ENST00000614799,;AMOTL2,non_coding_transcript_exon_variant,,ENST00000511759,;AMOTL2,intron_variant,,ENST00000512955,;AMOTL2,upstream_gene_variant,,ENST00000506326,;	A	ENST00000514516	Transcript	missense_variant	514/4521	335/2514	112/837	S/F	tCc/tTc		1		-1	AMOTL2	HGNC	HGNC:17812	protein_coding	YES	CCDS63784.1	ENSP00000424765	Q9Y2J4		UPI0001D3BD1B	NM_001278683.1	deleterious(0)		2/10		hmmpanther:PTHR14826,hmmpanther:PTHR14826:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	46	134371273	134371273	G	A	1	0	0	0	0	1	0	0	0	682	1174	41	3		3	AMOTL2	3	134371273	Missense_Mutation	SNP	G	C3N-00294_TP	1917873	134371273	63924286	338	13840											
PCCB	0	.	GRCh38	chr3	136260529	136260529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagcacatgcccaaaagatCtgcaaagtaagtgtttaata	16	9	9	7	0	1	1	0	0	1	1	1	2	1	2	1	1	3	4	1	1	6	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.483C>T	p.=	p.I161I	ENST00000469217	5/16	235	194	41	241	241	0	strelka-varscan-mutect	PCCB,synonymous_variant,p.=,ENST00000471595,;PCCB,synonymous_variant,p.=,ENST00000478469,;PCCB,synonymous_variant,p.=,ENST00000468777,;PCCB,synonymous_variant,p.=,ENST00000466072,;PCCB,synonymous_variant,p.=,ENST00000469217,NM_001178014.1;PCCB,synonymous_variant,p.=,ENST00000251654,NM_000532.4;PCCB,synonymous_variant,p.=,ENST00000462637,;PCCB,synonymous_variant,p.=,ENST00000465423,;PCCB,synonymous_variant,p.=,ENST00000494742,;PCCB,synonymous_variant,p.=,ENST00000459873,;PCCB,synonymous_variant,p.=,ENST00000462542,;PCCB,intron_variant,,ENST00000483687,;PCCB,intron_variant,,ENST00000490504,;PCCB,intron_variant,,ENST00000482086,;PCCB,non_coding_transcript_exon_variant,,ENST00000465176,;PCCB,intron_variant,,ENST00000474833,;PCCB,synonymous_variant,p.=,ENST00000484181,;PCCB,non_coding_transcript_exon_variant,,ENST00000473073,;PCCB,non_coding_transcript_exon_variant,,ENST00000475214,;	T	ENST00000469217	Transcript	synonymous_variant	500/1841	483/1680	161/559	I	atC/atT		1		1	PCCB	HGNC	HGNC:8654	protein_coding	YES	CCDS54643.1	ENSP00000419027	P05166		UPI000020A2DD	NM_001178014.1			5/16		PROSITE_profiles:PS50980,hmmpanther:PTHR22855:SF40,hmmpanther:PTHR22855,Pfam_domain:PF01039,Gene3D:3.90.226.10,Superfamily_domains:SSF52096																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	46	136260529	136260529	C	T	1	0	0	0	0	0	0	0	1	11592	903	32	3		3	PCCB	3	136260529	Silent	SNP	C	C3N-00294_TP	1889256	136260529	62035030	339	13841											
U2SURP	0	.	GRCh38	chr3	143036096	143036096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	taaatattattgaagaaaagGaaacagaggtaggcagtctg	18	9	11	3	0	1	3	0	1	1	2	1	4	1	4	0	3	1	2	0	3	9	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2056G>C	p.Glu686Gln	p.E686Q	ENST00000473835	20/28	49	44	5	73	73	0	strelka-varscan-mutect	U2SURP,missense_variant,p.Glu686Gln,ENST00000473835,NM_001320219.1,NM_001080415.1;U2SURP,missense_variant,p.Glu685Gln,ENST00000493598,;U2SURP,missense_variant,p.Glu6Gln,ENST00000467348,;U2SURP,3_prime_UTR_variant,,ENST00000463563,;U2SURP,3_prime_UTR_variant,,ENST00000488497,;U2SURP,non_coding_transcript_exon_variant,,ENST00000480029,;U2SURP,downstream_gene_variant,,ENST00000472373,;U2SURP,upstream_gene_variant,,ENST00000461844,;U2SURP,downstream_gene_variant,,ENST00000496100,;	C	ENST00000473835	Transcript	missense_variant	2146/7276	2056/3090	686/1029	E/Q	Gaa/Caa		1		1	U2SURP	HGNC	HGNC:30855	protein_coding	YES	CCDS46928.1	ENSP00000418563	O15042		UPI0000160746	NM_001320219.1,NM_001080415.1	tolerated(0.15)		20/28		hmmpanther:PTHR23140:SF1,hmmpanther:PTHR23140																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	143036096	143036096	G	C	1	0	0	0	0	1	0	0	0	17341	1175	41	4		4	U2SURP	3	143036096	Missense_Mutation	SNP	G	C3N-00294_TP	6775567	143036096	55259463	340	13842											
CHST2	0	.	GRCh38	chr3	143122066	143122066	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccccctgactggctgcAgggccactacctggtggtgc	5	7	14	15	0	0	1	0	1	0	0	0	1	0	1	4	4	4	3	4	4	1	1	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.1250A>T	p.Gln417Leu	p.Q417L	ENST00000309575	2/2	193	111	82	213	213	0	strelka-varscan-mutect	CHST2,missense_variant,p.Gln417Leu,ENST00000309575,NM_004267.4;RP11-80H8.4,upstream_gene_variant,,ENST00000483262,;	T	ENST00000309575	Transcript	missense_variant	2634/4582	1250/1593	417/530	Q/L	cAg/cTg		1		1	CHST2	HGNC	HGNC:1970	protein_coding	YES	CCDS3129.1	ENSP00000307911	Q9Y4C5	V9HVX9	UPI0000073CBC	NM_004267.4	deleterious(0)		2/2		Gene3D:3.40.50.300,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF3,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	143122066	143122066	A	T	1	0	0	0	0	1	0	0	0	3164	188	7	4		4	CHST2	3	143122066	Missense_Mutation	SNP	A	C3N-00294_TP	85970	143122066	55173493	341	13843											
CPB1	0	.	GRCh38	chr3	148845529	148845529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatccgcaacaaactctCttccatcaaggcatatctga	12	12	4	13	1	4	1	2	1	2	0	7	1	6	1	2	1	2	2	2	1	4	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.884C>A	p.Ser295Tyr	p.S295Y	ENST00000491148	10/12	299	177	122	339	339	0	strelka-varscan-mutect	CPB1,missense_variant,p.Ser295Tyr,ENST00000491148,;CPB1,missense_variant,p.Ser295Tyr,ENST00000282957,NM_001871.2;CPB1,downstream_gene_variant,,ENST00000468341,;CPB1,downstream_gene_variant,,ENST00000462345,;CPB1,downstream_gene_variant,,ENST00000484877,;CPB1,downstream_gene_variant,,ENST00000465718,;	A	ENST00000491148	Transcript	missense_variant	1218/1773	884/1254	295/417	S/Y	tCt/tAt		1		1	CPB1	HGNC	HGNC:2299	protein_coding	YES	CCDS33874.1	ENSP00000417222	P15086		UPI00001271CD		deleterious(0.01)		10/12		hmmpanther:PTHR11705:SF20,hmmpanther:PTHR11705,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	148845529	148845529	C	A	1	0	0	0	0	1	0	0	0	3590	913	32	2		2	CPB1	3	148845529	Missense_Mutation	SNP	C	C3N-00294_TP	5723463	148845529	49450030	342	13844											
GPR87	0	.	GRCh38	chr3	151295012	151295012	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accactatgtttttgagataGaatatgaagctggttttatt	12	17	8	4	0	0	3	0	2	0	2	0	4	0	3	1	1	1	3	1	1	6	8	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.234C>G	p.Phe78Leu	p.F78L	ENST00000260843	3/3	106	81	25	111	111	0	strelka-varscan-mutect	GPR87,missense_variant,p.Phe78Leu,ENST00000260843,NM_023915.3;MED12L,intron_variant,,ENST00000474524,NM_053002.5;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000491549,;GPR87,non_coding_transcript_exon_variant,,ENST00000629077,;	C	ENST00000260843	Transcript	missense_variant	699/1608	234/1077	78/358	F/L	ttC/ttG		1		-1	GPR87	HGNC	HGNC:4538	protein_coding	YES	CCDS3157.1	ENSP00000260843	Q9BY21		UPI000003C9FF	NM_023915.3	tolerated(0.19)		3/3		PROSITE_profiles:PS50262,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF8,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	151295012	151295012	G	C	1	0	0	0	0	1	0	0	0	6597	933	33	4		4	GPR87	3	151295012	Missense_Mutation	SNP	G	C3N-00294_TP	2449483	151295012	47000547	343	13845											
MED12L	0	.	GRCh38	chr3	151365076	151365076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcatgatggattttattGagaatccctcagcccgcagc	10	12	8	11	1	2	2	2	2	0	1	3	4	3	3	2	1	2	1	2	1	2	4	rs147847530		C3N-00294_TP	C3N-00294_NB	G	G																c.2950G>A	p.Glu984Lys	p.E984K	ENST00000474524	20/43	352	285	67	335	335	0	strelka-varscan-mutect	MED12L,missense_variant,p.Glu984Lys,ENST00000474524,NM_053002.5;MED12L,missense_variant,p.Glu844Lys,ENST00000273432,;P2RY12,intron_variant,,ENST00000302632,NM_176876.2,NM_022788.4;	A	ENST00000474524	Transcript	missense_variant	2988/10744	2950/6438	984/2145	E/K	Gag/Aag	rs147847530	1		1	MED12L	HGNC	HGNC:16050	protein_coding	YES	CCDS33876.1	ENSP00000417235	Q86YW9		UPI000020A46B	NM_053002.5	tolerated(0.35)		20/43		hmmpanther:PTHR13992:SF22,hmmpanther:PTHR13992																	MODERATE	1	SNV	1			1										PASS		rs147847530	.												A	3	1	46	151365076	151365076	G	A	1	0	0	0	0	1	0	0	0	9368	1291	45	3		3	MED12L	3	151365076	Missense_Mutation	SNP	G	C3N-00294_TP	70064	151365076	46930483	344	13846											
VEPH1	0	.	GRCh38	chr3	157381325	157381325	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatatggtgaaacgaatgctCcatgttggccagttggctca	11	11	11	8	1	1	1	1	1	0	0	2	2	2	1	2	3	2	4	2	3	4	3	rs377372657		C3N-00294_TP	C3N-00294_NB	C	C																c.958G>C	p.Glu320Gln	p.E320Q	ENST00000362010	7/14	378	302	76	379	379	0	strelka-varscan-mutect	VEPH1,missense_variant,p.Glu320Gln,ENST00000362010,NM_001167912.1;VEPH1,missense_variant,p.Glu320Gln,ENST00000392833,NM_001167911.1;VEPH1,missense_variant,p.Glu320Gln,ENST00000392832,NM_024621.2;RP11-550I24.2,downstream_gene_variant,,ENST00000487238,;VEPH1,non_coding_transcript_exon_variant,,ENST00000488772,;VEPH1,non_coding_transcript_exon_variant,,ENST00000482685,;	G	ENST00000362010	Transcript	missense_variant	1266/4202	958/2502	320/833	E/Q	Gag/Cag	rs377372657	1		-1	VEPH1	HGNC	HGNC:25735	protein_coding	YES	CCDS3179.1	ENSP00000354919	Q14D04		UPI000013F6EE	NM_001167912.1	deleterious(0)		7/14		hmmpanther:PTHR21630,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs377372657	.												G	3	3	46	157381325	157381325	C	G	1	0	0	0	0	1	0	0	0	17700	864	30	4		4	VEPH1	3	157381325	Missense_Mutation	SNP	C	C3N-00294_TP	6016249	157381325	40914234	345	13847											
TRIM59	0	.	GRCh38	chr3	160438663	160438663	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccttggatcattttctcaGaatgagatttttgttctttc	7	19	7	8	1	3	2	2	1	2	2	5	4	3	3	1	1	0	1	1	1	1	7	rs375673052		C3N-00294_TP	C3N-00294_NB	G	G																c.521C>G	p.Ser174Cys	p.S174C	ENST00000309784	3/3	61	56	5	81	81	0	strelka-varscan-mutect	TRIM59,missense_variant,p.Ser174Cys,ENST00000543469,;TRIM59,missense_variant,p.Ser174Cys,ENST00000309784,NM_173084.2;TRIM59,missense_variant,p.Ser174Cys,ENST00000479460,;SMC4,downstream_gene_variant,,ENST00000357388,NM_001002800.2;SMC4,downstream_gene_variant,,ENST00000344722,NM_005496.3;SMC4,downstream_gene_variant,,ENST00000462787,;SMC4,downstream_gene_variant,,ENST00000469762,NM_001288753.1;TRIM59,downstream_gene_variant,,ENST00000496222,;TRIM59,downstream_gene_variant,,ENST00000468542,;TRIM59,downstream_gene_variant,,ENST00000494486,;TRIM59,downstream_gene_variant,,ENST00000471155,;TRIM59,downstream_gene_variant,,ENST00000471396,;RP11-432B6.3,missense_variant,p.Ser174Cys,ENST00000483754,;SMC4,downstream_gene_variant,,ENST00000462668,;	C	ENST00000309784	Transcript	missense_variant	707/3867	521/1212	174/403	S/C	tCt/tGt	rs375673052	1		-1	TRIM59	HGNC	HGNC:30834	protein_coding	YES	CCDS3190.1	ENSP00000311219	Q8IWR1		UPI0000074490	NM_173084.2	tolerated(1)		3/3		hmmpanther:PTHR24098,hmmpanther:PTHR24098:SF14																	MODERATE	1	SNV	1			1										PASS		rs375673052	.												C	3	2	46	160438663	160438663	G	C	1	0	0	0	0	1	0	0	0	17025	942	33	4		4	TRIM59	3	160438663	Missense_Mutation	SNP	G	C3N-00294_TP	3057338	160438663	37856896	346	13848											
SLITRK3	0	.	GRCh38	chr3	165189845	165189845	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcttaggctgtttatttGaggacttgtattcgacagaa	9	15	12	5	1	0	2	0	1	0	1	1	4	0	3	0	3	0	4	0	3	4	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.986C>G	p.Ser329Ter	p.S329*	ENST00000475390	2/2	277	233	44	334	334	0	strelka-varscan-mutect	SLITRK3,stop_gained,p.Ser329Ter,ENST00000475390,NM_001318811.1,NM_001318810.1;SLITRK3,stop_gained,p.Ser329Ter,ENST00000241274,NM_014926.2;SLITRK3,downstream_gene_variant,,ENST00000497724,;	C	ENST00000475390	Transcript	stop_gained	1430/4555	986/2934	329/977	S/*	tCa/tGa		1		-1	SLITRK3	HGNC	HGNC:23501	protein_coding	YES	CCDS3197.1	ENSP00000420091	O94933		UPI000004F259	NM_001318811.1,NM_001318810.1			2/2																			HIGH	1	SNV	1			1										PASS		.	.												C	4	2	46	165189845	165189845	G	C	1	0	0	0	0	0	1	0	0	15035	1294	45	4		4	SLITRK3	3	165189845	Nonsense_Mutation	SNP	G	C3N-00294_TP	4751182	165189845	33105714	347	13849											
PDCD10	0	.	GRCh38	chr3	167684323	167684323	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactttcaggccacagttttGaaggtctgaagtattaagtt	12	14	9	6	0	2	2	1	2	1	0	2	2	2	2	1	2	1	3	1	2	5	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.624C>T	p.=	p.F208F	ENST00000392750	9/9	211	181	30	343	343	0	strelka-varscan-mutect	PDCD10,synonymous_variant,p.=,ENST00000392750,NM_007217.3;PDCD10,synonymous_variant,p.=,ENST00000473645,NM_145859.1;PDCD10,synonymous_variant,p.=,ENST00000497056,NM_145860.1;PDCD10,synonymous_variant,p.=,ENST00000470131,;PDCD10,synonymous_variant,p.=,ENST00000461494,;PDCD10,synonymous_variant,p.=,ENST00000492396,;PDCD10,downstream_gene_variant,,ENST00000475915,;PDCD10,downstream_gene_variant,,ENST00000471885,;PDCD10,downstream_gene_variant,,ENST00000487947,;PDCD10,downstream_gene_variant,,ENST00000462725,;PDCD10,downstream_gene_variant,,ENST00000492139,;PDCD10,downstream_gene_variant,,ENST00000479121,;	A	ENST00000392750	Transcript	synonymous_variant	1042/2067	624/639	208/212	F	ttC/ttT		1		-1	PDCD10	HGNC	HGNC:8761	protein_coding	YES	CCDS3202.1	ENSP00000376506	Q9BUL8		UPI0000071E33	NM_007217.3			9/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13250,hmmpanther:PTHR13250:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	167684323	167684323	G	A	1	0	0	0	0	0	0	0	1	11704	1281	45	3		3	PDCD10	3	167684323	Silent	SNP	G	C3N-00294_TP	2494478	167684323	30611236	348	13850											
TNIK	0	.	GRCh38	chr3	171082261	171082261	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtaacatacctgaaattgtCacaaggacattcagtccctc	14	10	6	11	0	2	1	2	1	0	0	4	2	3	2	2	1	2	1	2	1	4	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3303G>C	p.=	p.V1101V	ENST00000436636	27/33	128	106	22	111	111	0	strelka-varscan-mutect	TNIK,synonymous_variant,p.=,ENST00000436636,NM_015028.2;TNIK,synonymous_variant,p.=,ENST00000341852,NM_001161565.1;TNIK,synonymous_variant,p.=,ENST00000284483,NM_001161560.1;TNIK,synonymous_variant,p.=,ENST00000357327,NM_001161561.1;TNIK,synonymous_variant,p.=,ENST00000470834,NM_001161562.1;TNIK,synonymous_variant,p.=,ENST00000488470,NM_001161563.1;TNIK,synonymous_variant,p.=,ENST00000460047,NM_001161564.1;TNIK,synonymous_variant,p.=,ENST00000475336,NM_001161566.1;TNIK,non_coding_transcript_exon_variant,,ENST00000496492,;TNIK,non_coding_transcript_exon_variant,,ENST00000484051,;TNIK,upstream_gene_variant,,ENST00000487846,;	G	ENST00000436636	Transcript	synonymous_variant	3648/6970	3303/4083	1101/1360	V	gtG/gtC		1		-1	TNIK	HGNC	HGNC:30765	protein_coding	YES	CCDS46956.1	ENSP00000399511	Q9UKE5		UPI000003ABDF	NM_015028.2			27/33		Pfam_domain:PF00780,PROSITE_profiles:PS50219,SMART_domains:SM00036																	LOW	1	SNV	1			1										PASS		rs1386991811	.												G	2	3	46	171082261	171082261	C	G	1	0	0	0	0	0	0	0	1	16786	813	29	4		4	TNIK	3	171082261	Silent	SNP	C	C3N-00294_TP	3397938	171082261	27213298	349	13851											
FNDC3B	0	.	GRCh38	chr3	172330539	172330539	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcactttctttctctacAgtggttatagccaagaggtg	8	14	9	10	0	3	1	1	0	2	1	4	1	3	1	2	2	2	1	2	2	4	5	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.1380-2A>G		p.X460_splice	ENST00000336824		53	45	8	51	51	0	strelka-varscan-mutect	FNDC3B,splice_acceptor_variant,,ENST00000336824,NM_001135095.1;FNDC3B,splice_acceptor_variant,,ENST00000415807,NM_022763.3;FNDC3B,splice_acceptor_variant,,ENST00000416957,;FNDC3B,splice_acceptor_variant,,ENST00000469491,;FNDC3B,non_coding_transcript_exon_variant,,ENST00000494000,;	G	ENST00000336824	Transcript	splice_acceptor_variant	-/7904	1380/3615	460/1204				1		1	FNDC3B	HGNC	HGNC:24670	protein_coding	YES	CCDS3217.1	ENSP00000338523	Q53EP0		UPI00001AE8B2	NM_001135095.1				12/25																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	46	172330539	172330539	A	G	1	0	0	0	0	0	0	1	0	5827	202	7	5		5	FNDC3B	3	172330539	Splice_Site	SNP	A	C3N-00294_TP	1248278	172330539	25965020	350	13852											
NLGN1	0	.	GRCh38	chr3	174280833	174280833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaccaagtccattttcagtgGatcaaagggactactcaaca	15	9	7	10	0	3	0	3	0	0	0	4	2	4	2	2	2	3	0	2	2	5	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2002G>A	p.Asp668Asn	p.D668N	ENST00000457714	7/7	248	210	38	259	259	0	strelka-varscan-mutect	NLGN1,missense_variant,p.Asp668Asn,ENST00000457714,NM_014932.3;NLGN1,missense_variant,p.Asp668Asn,ENST00000361589,;NLGN1,missense_variant,p.Asp453Asn,ENST00000401917,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;NLGN1,downstream_gene_variant,,ENST00000469564,;	A	ENST00000457714	Transcript	missense_variant	2431/8242	2002/2472	668/823	D/N	Gat/Aat		1		1	NLGN1	HGNC	HGNC:14291	protein_coding	YES	CCDS3222.1	ENSP00000392500	Q8N2Q7		UPI0000072F54	NM_014932.3	tolerated(0.16)		7/7																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	174280833	174280833	G	A	1	0	0	0	0	1	0	0	0	10498	1174	41	3		3	NLGN1	3	174280833	Missense_Mutation	SNP	G	C3N-00294_TP	1950294	174280833	24014726	351	13853											
GNB4	0	.	GRCh38	chr3	179414955	179414955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaagttatatatagagcaGatgttgtccaagcctccaca	13	13	7	8	0	0	2	0	0	0	2	2	2	2	2	3	0	2	3	3	0	6	7			C3N-00294_TP	C3N-00294_NB	G	G																c.360C>T	p.=	p.I120I	ENST00000232564	6/10	180	147	33	197	197	0	strelka-varscan-mutect	GNB4,synonymous_variant,p.=,ENST00000232564,NM_021629.3;GNB4,synonymous_variant,p.=,ENST00000468623,;GNB4,synonymous_variant,p.=,ENST00000466899,;GNB4,downstream_gene_variant,,ENST00000497513,;GNB4,upstream_gene_variant,,ENST00000465153,;	A	ENST00000232564	Transcript	synonymous_variant	647/6434	360/1023	120/340	I	atC/atT	COSM4115446	1		-1	GNB4	HGNC	HGNC:20731	protein_coding	YES	CCDS3230.1	ENSP00000232564	Q9HAV0		UPI000012B21A	NM_021629.3			6/10		Gene3D:2.130.10.10,Pfam_domain:PF00400,PIRSF_domain:PIRSF002394,Prints_domain:PR00319,PROSITE_profiles:PS50294,hmmpanther:PTHR19850,hmmpanther:PTHR19850:SF28,SMART_domains:SM00320,Superfamily_domains:SSF50978											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	46	179414955	179414955	G	A	1	0	0	0	0	0	0	0	1	6399	932	33	3		3	GNB4	3	179414955	Silent	SNP	G	C3N-00294_TP	5134122	179414955	18880604	352	13854											
CCDC39	0	.	GRCh38	chr3	180642193	180642193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaaaagattgtcctctatCatcaaatcctatcaacgtaa	15	14	3	9	1	4	1	3	0	1	1	6	1	6	1	2	0	1	1	2	0	7	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1674G>A	p.Met558Ile	p.M558I	ENST00000442201	13/20	52	39	13	78	78	0	strelka-varscan-mutect	CCDC39,missense_variant,p.Met558Ile,ENST00000442201,NM_181426.1;CCDC39,missense_variant,p.Met558Ile,ENST00000476379,;	T	ENST00000442201	Transcript	missense_variant	1794/3279	1674/2826	558/941	M/I	atG/atA		1		-1	CCDC39	HGNC	HGNC:25244	protein_coding	YES	CCDS46964.1	ENSP00000405708	Q9UFE4		UPI00015D7298	NM_181426.1	deleterious(0.01)		13/20		hmmpanther:PTHR18962,hmmpanther:PTHR18962:SF0																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	46	180642193	180642193	C	T	1	0	0	0	0	1	0	0	0	2520	826	29	3		3	CCDC39	3	180642193	Missense_Mutation	SNP	C	C3N-00294_TP	1227238	180642193	17653366	353	13855											
MCCC1	0	.	GRCh38	chr3	183086782	183086782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggccgatggaatatgcttCatctgcctgtttaagaaaca	11	11	11	8	1	2	1	1	0	1	1	2	3	2	2	2	3	3	2	2	3	4	4			C3N-00294_TP	C3N-00294_NB	C	C																c.280G>A	p.Glu94Lys	p.E94K	ENST00000265594	4/19	234	211	23	260	260	0	strelka-varscan-mutect	MCCC1,missense_variant,p.Glu94Lys,ENST00000265594,NM_020166.4;MCCC1,missense_variant,p.Glu56Lys,ENST00000629669,;MCCC1,missense_variant,p.Glu47Lys,ENST00000476176,;MCCC1,5_prime_UTR_variant,,ENST00000492597,;MCCC1,5_prime_UTR_variant,,ENST00000610757,NM_001293273.1;MCCC1,missense_variant,p.Glu56Lys,ENST00000497959,;MCCC1,stop_retained_variant,p.=,ENST00000497830,;MCCC1,stop_retained_variant,p.=,ENST00000466650,;MCCC1,3_prime_UTR_variant,,ENST00000486226,;MCCC1,intron_variant,,ENST00000495767,;MCCC1,intron_variant,,ENST00000487634,;MCCC1,intron_variant,,ENST00000490284,;	T	ENST00000265594	Transcript	missense_variant	427/2545	280/2178	94/725	E/K	Gaa/Aaa	COSM3774747	1		-1	MCCC1	HGNC	HGNC:6936	protein_coding	YES	CCDS3241.1	ENSP00000265594	Q96RQ3	A0A0S2Z693	UPI000013D646	NM_020166.4	deleterious(0)		4/19		PROSITE_profiles:PS50979,hmmpanther:PTHR18866,Pfam_domain:PF00289,Gene3D:3.40.50.20,Superfamily_domains:SSF52440											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	46	183086782	183086782	C	T	1	0	0	0	0	1	0	0	0	9304	835	29	3		3	MCCC1	3	183086782	Missense_Mutation	SNP	C	C3N-00294_TP	2444589	183086782	15208777	354	13856											
YEATS2	0	.	GRCh38	chr3	183724502	183724502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttcacgactttttgtaaaGaaaacaatagtagtgggcaa	16	11	8	6	1	1	1	1	0	0	1	1	2	1	1	0	1	1	3	0	1	8	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.621G>C	p.Lys207Asn	p.K207N	ENST00000305135	6/31	157	128	29	199	199	0	strelka-varscan-mutect	YEATS2,missense_variant,p.Lys207Asn,ENST00000305135,NM_018023.4;	C	ENST00000305135	Transcript	missense_variant	816/6506	621/4269	207/1422	K/N	aaG/aaC		1		1	YEATS2	HGNC	HGNC:25489	protein_coding	YES	CCDS43175.1	ENSP00000306983	Q9ULM3		UPI00001BB2B9	NM_018023.4	deleterious(0.01)		6/31		PROSITE_profiles:PS51037,hmmpanther:PTHR23195:SF7,hmmpanther:PTHR23195																	MODERATE	1	SNV	1			1										PASS		rs991662940	.												C	3	2	46	183724502	183724502	G	C	1	0	0	0	0	1	0	0	0	18034	933	33	4		4	YEATS2	3	183724502	Missense_Mutation	SNP	G	C3N-00294_TP	637720	183724502	14571057	355	13857											
TMEM41A	0	.	GRCh38	chr3	185495273	185495273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcaacacacagcacagcaGaagccccagccatggcccaa	14	2	9	16	0	1	1	1	0	0	1	1	1	1	1	4	2	5	2	4	2	3	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.316C>T	p.=	p.L106L	ENST00000421852	3/5	229	190	39	195	195	0	strelka-varscan-mutect	TMEM41A,synonymous_variant,p.=,ENST00000421852,NM_080652.3;TMEM41A,intron_variant,,ENST00000296254,;TMEM41A,non_coding_transcript_exon_variant,,ENST00000475480,;TMEM41A,non_coding_transcript_exon_variant,,ENST00000467520,;TMEM41A,non_coding_transcript_exon_variant,,ENST00000467061,;TMEM41A,intron_variant,,ENST00000382227,;	A	ENST00000421852	Transcript	synonymous_variant	412/2827	316/795	106/264	L	Ctg/Ttg		1		-1	TMEM41A	HGNC	HGNC:30544	protein_coding	YES	CCDS3271.1	ENSP00000406885	Q96HV5		UPI0000048EAE	NM_080652.3			3/5		Transmembrane_helices:TMhelix,hmmpanther:PTHR12677,hmmpanther:PTHR12677:SF3,Pfam_domain:PF09335																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	185495273	185495273	G	A	1	0	0	0	0	0	0	0	1	16641	933	33	3		3	TMEM41A	3	185495273	Silent	SNP	G	C3N-00294_TP	1770771	185495273	12800286	356	13858											
MB21D2	0	.	GRCh38	chr3	192798931	192798931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgatggctttgcaggcctGataggcctgcatgaggctgc	7	10	15	9	0	0	3	0	3	0	0	0	4	0	3	2	4	3	4	2	4	1	2			C3N-00294_TP	C3N-00294_NB	G	G																c.931C>G	p.Gln311Glu	p.Q311E	ENST00000392452	2/2	88	69	19	106	106	0	strelka-varscan-mutect	MB21D2,missense_variant,p.Gln311Glu,ENST00000392452,NM_178496.3;	C	ENST00000392452	Transcript	missense_variant	1252/3368	931/1476	311/491	Q/E	Cag/Gag	COSM348040,COSM350832	1		-1	MB21D2	HGNC	HGNC:30438	protein_coding	YES	CCDS3302.2	ENSP00000376246	Q8IYB1		UPI000013FAFE	NM_178496.3	tolerated(0.19)		2/2		hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF47,Pfam_domain:PF03281,SMART_domains:SM01265											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs988241015	.												C	3	2	46	192798931	192798931	G	C	1	0	0	0	0	1	0	0	0	9270	1299	45	4		4	MB21D2	3	192798931	Missense_Mutation	SNP	G	C3N-00294_TP	7303658	192798931	5496628	357	13859											
ATP13A4	0	.	GRCh38	chr3	193433901	193433901	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaacagaaactggtaatttGaaaggctgtttgtctcctga	12	12	11	6	0	1	3	0	2	1	1	2	4	1	4	1	3	2	3	1	3	4	3			C3N-00294_TP	C3N-00294_NB	G	G																c.2786C>G	p.Ser929Ter	p.S929*	ENST00000342695	25/30	246	191	55	298	298	0	strelka-varscan-mutect	ATP13A4,stop_gained,p.Ser929Ter,ENST00000342695,NM_032279.3;ATP13A4,stop_gained,p.Ser910Ter,ENST00000392443,;ATP13A4,missense_variant,p.Gln560Glu,ENST00000428352,;ATP13A4,3_prime_UTR_variant,,ENST00000450950,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000474776,;ATP13A4,downstream_gene_variant,,ENST00000437904,;	C	ENST00000342695	Transcript	stop_gained	3109/4208	2786/3591	929/1196	S/*	tCa/tGa	COSM446190	1		-1	ATP13A4	HGNC	HGNC:25422	protein_coding	YES	CCDS3304.2	ENSP00000339182	Q4VNC1		UPI0000520D50	NM_032279.3			25/30		Superfamily_domains:0049473,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF279,TIGRFAM_domain:TIGR01657											1						HIGH	1	SNV	1		1	1										PASS		.	.												C	4	2	46	193433901	193433901	G	C	1	0	0	0	0	0	1	0	0	1278	1294	45	4		4	ATP13A4	3	193433901	Nonsense_Mutation	SNP	G	C3N-00294_TP	634970	193433901	4861658	358	13860											
FYTTD1	0	.	GRCh38	chr3	197756555	197756555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggggaatccaacagaattCtggtaagttttgaaagtaag	15	11	11	4	0	1	2	0	1	1	1	2	3	2	3	1	3	1	3	1	3	6	5	rs758337852		C3N-00294_TP	C3N-00294_NB	C	C																c.233C>T	p.Ser78Phe	p.S78F	ENST00000241502	2/9	134	110	24	111	111	0	strelka-varscan-mutect	FYTTD1,missense_variant,p.Ser78Phe,ENST00000241502,NM_032288.6;FYTTD1,missense_variant,p.Ser11Phe,ENST00000424384,;FYTTD1,missense_variant,p.Ser52Phe,ENST00000415708,NM_001011537.2;FYTTD1,missense_variant,p.Ser11Phe,ENST00000428738,;FYTTD1,missense_variant,p.Ser11Phe,ENST00000426031,;FYTTD1,missense_variant,p.Ser78Phe,ENST00000412924,;FYTTD1,missense_variant,p.Ser83Phe,ENST00000494309,;FYTTD1,missense_variant,p.Ser78Phe,ENST00000418169,;	T	ENST00000241502	Transcript	missense_variant,splice_region_variant	455/6866	233/957	78/318	S/F	tCt/tTt	rs758337852	1		1	FYTTD1	HGNC	HGNC:25407	protein_coding	YES	CCDS3329.1	ENSP00000241502	Q96QD9	A0A024R9K4	UPI0000073CEC	NM_032288.6	deleterious(0.05)		2/9		hmmpanther:PTHR21038:SF2,hmmpanther:PTHR21038,Pfam_domain:PF07078																	MODERATE	1	SNV	1			1										PASS		rs758337852	.												T	3	4	46	197756555	197756555	C	T	1	0	0	0	0	1	0	0	0	5998	927	32	3		3	FYTTD1	3	197756555	Missense_Mutation	SNP	C	C3N-00294_TP	4322654	197756555	539004	359	13861											
ZNF595	0	.	GRCh38	chr4	86905	86905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttacacggtccacaacactGaacgaacataagaaaattca	18	8	5	10	2	1	2	1	1	0	1	2	3	2	2	1	1	4	0	1	1	7	4	rs188563063		C3N-00294_TP	C3N-00294_NB	G	G																c.1401G>A	p.=	p.L467L	ENST00000610261	4/4	197	163	34	205	205	0	strelka-varscan-mutect	ZNF595,synonymous_variant,p.=,ENST00000610261,NM_182524.3;ZNF595,synonymous_variant,p.=,ENST00000609518,NM_001286052.1;ZNF595,synonymous_variant,p.=,ENST00000608255,NM_001286053.1,NM_001286054.1;	A	ENST00000610261	Transcript	synonymous_variant	1605/2911	1401/1947	467/648	L	ctG/ctA	rs188563063	1		1	ZNF595	HGNC	HGNC:27196	protein_coding	YES	CCDS75075.1	ENSP00000477392		Q7Z3I0	UPI00001A9D0D	NM_182524.3			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF303,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		rs188563063	.												A	2	1	46	86905	86905	G	A	1	0	0	0	0	0	0	0	1	18600	1277	45	3		3	ZNF595	4	86905	Silent	SNP	G	C3N-00294_TP		86905	190127650	360	13862											
HAUS3	0	.	GRCh38	chr4	2232106	2232106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaagaatatcagtgaggaGatgatttagcttattcagtt	14	13	10	4	0	2	4	2	2	0	2	2	5	2	4	0	1	2	3	0	1	5	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1633C>T	p.Leu545Phe	p.L545F	ENST00000243706	5/5	92	82	10	164	164	0	strelka-varscan-mutect	HAUS3,missense_variant,p.Leu545Phe,ENST00000243706,;HAUS3,missense_variant,p.Leu545Phe,ENST00000443786,NM_024511.6,NM_001303143.1;POLN,intron_variant,,ENST00000511885,NM_181808.3;HAUS3,intron_variant,,ENST00000506763,;POLN,upstream_gene_variant,,ENST00000382865,;POLN,non_coding_transcript_exon_variant,,ENST00000506518,;POLN,intron_variant,,ENST00000515357,;COX6B1P5,upstream_gene_variant,,ENST00000509843,;	A	ENST00000243706	Transcript	missense_variant	1863/5620	1633/1812	545/603	L/F	Ctc/Ttc		1		-1	HAUS3	HGNC	HGNC:28719	protein_coding	YES	CCDS33941.1	ENSP00000243706	Q68CZ6		UPI000020BA32		deleterious(0.02)		5/5		hmmpanther:PTHR19378,hmmpanther:PTHR19378:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	2232106	2232106	G	A	1	0	0	0	0	1	0	0	0	6853	942	33	3		3	HAUS3	4	2232106	Missense_Mutation	SNP	G	C3N-00294_TP	2145201	2232106	187982449	361	13863											
FAM193A	0	.	GRCh38	chr4	2699779	2699779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggaggaggatgaggaaGaagaggaggatcgtttcaag	15	5	19	2	1	1	3	1	1	0	2	2	10	1	10	0	7	0	1	0	7	3	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2734G>A	p.Glu912Lys	p.E912K	ENST00000324666	17/20	238	186	52	289	289	0	strelka-varscan-mutect	FAM193A,missense_variant,p.Glu1203Lys,ENST00000637812,;FAM193A,missense_variant,p.Glu912Lys,ENST00000324666,NM_001256666.1;FAM193A,missense_variant,p.Glu912Lys,ENST00000382839,NM_003704.3;FAM193A,missense_variant,p.Glu912Lys,ENST00000505311,NM_001256668.1;FAM193A,missense_variant,p.Glu934Lys,ENST00000502458,NM_001256667.1;FAM193A,missense_variant,p.Glu912Lys,ENST00000545951,;FAM193A,missense_variant,p.Glu766Lys,ENST00000513350,;FAM193A,3_prime_UTR_variant,,ENST00000512465,;FAM193A,3_prime_UTR_variant,,ENST00000513898,;FAM193A,non_coding_transcript_exon_variant,,ENST00000506120,;	A	ENST00000324666	Transcript	missense_variant	3085/4846	2734/3798	912/1265	E/K	Gaa/Aaa		1		1	FAM193A	HGNC	HGNC:16822	protein_coding	YES	CCDS58875.1	ENSP00000324587	P78312		UPI0000551BCA	NM_001256666.1	tolerated(0.1)		17/20		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15109:SF2,hmmpanther:PTHR15109																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	2699779	2699779	G	A	1	0	0	0	0	1	0	0	0	5371	943	33	3		3	FAM193A	4	2699779	Missense_Mutation	SNP	G	C3N-00294_TP	467673	2699779	187514776	362	13864											
FAM193A	0	.	GRCh38	chr4	2699983	2699983	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagagcaaactgaagaaccaGaaacctcttctcactcccca	15	7	5	14	0	2	4	1	1	2	3	4	4	3	4	4	0	4	1	4	0	5	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2938G>C	p.Glu980Gln	p.E980Q	ENST00000324666	17/20	245	199	46	279	278	1	strelka-varscan-mutect	FAM193A,missense_variant,p.Glu1271Gln,ENST00000637812,;FAM193A,missense_variant,p.Glu980Gln,ENST00000324666,NM_001256666.1;FAM193A,missense_variant,p.Glu980Gln,ENST00000382839,NM_003704.3;FAM193A,missense_variant,p.Glu980Gln,ENST00000505311,NM_001256668.1;FAM193A,missense_variant,p.Glu1002Gln,ENST00000502458,NM_001256667.1;FAM193A,missense_variant,p.Glu980Gln,ENST00000545951,;FAM193A,missense_variant,p.Glu834Gln,ENST00000513350,;FAM193A,3_prime_UTR_variant,,ENST00000512465,;FAM193A,3_prime_UTR_variant,,ENST00000513898,;FAM193A,downstream_gene_variant,,ENST00000506120,;	C	ENST00000324666	Transcript	missense_variant	3289/4846	2938/3798	980/1265	E/Q	Gaa/Caa		1		1	FAM193A	HGNC	HGNC:16822	protein_coding	YES	CCDS58875.1	ENSP00000324587	P78312		UPI0000551BCA	NM_001256666.1	deleterious_low_confidence(0.02)		17/20		Low_complexity_(Seg):seg,hmmpanther:PTHR15109:SF2,hmmpanther:PTHR15109																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	2699983	2699983	G	C	1	0	0	0	0	1	0	0	0	5371	943	33	4		4	FAM193A	4	2699983	Missense_Mutation	SNP	G	C3N-00294_TP	204	2699983	187514572	363	13865											
ADRA2C	0	.	GRCh38	chr4	3767149	3767149	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtggctcatctcggccgtCatctccttcccgccgctggt	2	12	11	16	4	4	0	2	0	2	0	7	0	5	0	4	3	0	2	4	3	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.543C>T	p.=	p.V181V	ENST00000330055	1/1	302	238	64	288	288	0	strelka-varscan-mutect	ADRA2C,synonymous_variant,p.=,ENST00000330055,NM_000683.3;ADRA2C,synonymous_variant,p.=,ENST00000509482,;AC141928.1,upstream_gene_variant,,ENST00000511928,;	T	ENST00000330055	Transcript	synonymous_variant	752/2129	543/1389	181/462	V	gtC/gtT		1		1	ADRA2C	HGNC	HGNC:283	protein_coding	YES	CCDS47004.1	ENSP00000386069	P18825	Q4W594	UPI000012500C	NM_000683.3			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF25,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW		SNV				1										PASS		.	.												T	2	4	46	3767149	3767149	C	T	1	0	0	0	0	0	0	0	1	415	813	29	3		3	ADRA2C	4	3767149	Silent	SNP	C	C3N-00294_TP	1067166	3767149	186447406	364	13866											
AFAP1	0	.	GRCh38	chr4	7809739	7809739	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacagtgcccttggcctctGatttggaacttttcttcctc	6	15	7	13	0	2	1	0	1	2	0	4	2	3	2	3	2	2	0	3	2	1	5	rs141660816		C3N-00294_TP	C3N-00294_NB	G	G																c.929C>G	p.Ser310Ter	p.S310*	ENST00000420658	9/18	141	107	34	161	161	0	strelka-varscan-mutect	AFAP1,stop_gained,p.Ser310Ter,ENST00000420658,NM_001134647.1;AFAP1,stop_gained,p.Ser310Ter,ENST00000358461,NM_198595.2;AFAP1,stop_gained,p.Ser310Ter,ENST00000360265,;AFAP1,stop_gained,p.Ser310Ter,ENST00000382543,;AFAP1,stop_gained,p.Ser19Ter,ENST00000614385,;	C	ENST00000420658	Transcript	stop_gained	1202/7768	929/2445	310/814	S/*	tCa/tGa	rs141660816	1		-1	AFAP1	HGNC	HGNC:24017	protein_coding	YES	CCDS47010.1	ENSP00000410689	Q8N556		UPI000048041E	NM_001134647.1			9/18		hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF8																	HIGH	1	SNV	2			1										PASS		rs141660816	.												C	4	2	46	7809739	7809739	G	C	1	0	0	0	0	0	1	0	0	430	1294	45	4		4	AFAP1	4	7809739	Nonsense_Mutation	SNP	G	C3N-00294_TP	4042590	7809739	182404816	365	13867											
BOD1L1	0	.	GRCh38	chr4	13576837	13576837	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctctgtgctgcccccattaCctctgagcctctgatctggt	4	13	9	15	0	4	2	0	2	4	0	4	2	4	2	4	1	4	2	4	1	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.9038+1G>T		p.X3013_splice	ENST00000040738		96	51	45	109	108	1	strelka-varscan-mutect	BOD1L1,splice_donor_variant,,ENST00000040738,NM_148894.2;BOD1L1,splice_donor_variant,,ENST00000507943,;BOD1L1,splice_donor_variant,,ENST00000505343,;BOD1L1,downstream_gene_variant,,ENST00000509897,;	A	ENST00000040738	Transcript	splice_donor_variant	-/10565	9038/9156	3013/3051				1		-1	BOD1L1	HGNC	HGNC:31792	protein_coding	YES	CCDS3411.2	ENSP00000040738	Q8NFC6		UPI000066D9E3	NM_148894.2				25/25																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	46	13576837	13576837	C	A	1	0	0	0	0	0	0	1	0	1639	521	18	2		2	BOD1L1	4	13576837	Splice_Site	SNP	C	C3N-00294_TP	5767098	13576837	176637718	366	13868											
BOD1L1	0	.	GRCh38	chr4	13600622	13600622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagagcatctgagagacctCcttccacatctgtaattgcg	10	11	8	12	1	3	3	1	1	2	2	5	4	5	3	3	0	2	2	3	0	1	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.6278G>A	p.Gly2093Glu	p.G2093E	ENST00000040738	10/26	197	159	38	183	183	0	strelka-varscan-mutect	BOD1L1,missense_variant,p.Gly2093Glu,ENST00000040738,NM_148894.2;	T	ENST00000040738	Transcript	missense_variant	6414/10565	6278/9156	2093/3051	G/E	gGa/gAa		1		-1	BOD1L1	HGNC	HGNC:31792	protein_coding	YES	CCDS3411.2	ENSP00000040738	Q8NFC6		UPI000066D9E3	NM_148894.2	tolerated(1)		10/26		hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	46	13600622	13600622	C	T	1	0	0	0	0	1	0	0	0	1639	855	30	3		3	BOD1L1	4	13600622	Missense_Mutation	SNP	C	C3N-00294_TP	23785	13600622	176613933	367	13869											
FAM184B	0	.	GRCh38	chr4	17664648	17664648	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgaagtttcatccagcttCaagcatggatcctaaggcca	11	9	10	11	1	2	0	2	0	0	0	4	2	4	1	3	3	2	3	3	3	3	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1608G>C	p.Leu536Phe	p.L536F	ENST00000265018	8/18	136	105	31	144	144	0	strelka-varscan-mutect	FAM184B,missense_variant,p.Leu536Phe,ENST00000265018,NM_015688.1;	G	ENST00000265018	Transcript	missense_variant	1821/6622	1608/3183	536/1060	L/F	ttG/ttC		1		-1	FAM184B	HGNC	HGNC:29235	protein_coding	YES	CCDS47033.1	ENSP00000265018	Q9ULE4		UPI000020BD7C	NM_015688.1	tolerated(0.12)		8/18		hmmpanther:PTHR18870:SF8,hmmpanther:PTHR18870																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	17664648	17664648	C	G	1	0	0	0	0	1	0	0	0	5359	825	29	4		4	FAM184B	4	17664648	Missense_Mutation	SNP	C	C3N-00294_TP	4064026	17664648	172549907	368	13870											
SEL1L3	0	.	GRCh38	chr4	25819922	25819922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttcagcaagttgcttctCaaggaggggattaaaaatct	12	13	10	6	0	3	0	2	0	2	0	4	2	3	2	0	3	2	4	0	3	5	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1309G>C	p.Glu437Gln	p.E437Q	ENST00000399878	8/24	115	96	19	160	160	0	strelka-varscan-mutect	SEL1L3,missense_variant,p.Glu437Gln,ENST00000399878,NM_015187.4;SEL1L3,missense_variant,p.Glu402Gln,ENST00000264868,NM_001297592.1;SEL1L3,missense_variant,p.Glu284Gln,ENST00000502949,NM_001297594.1;	G	ENST00000399878	Transcript	missense_variant	1432/4520	1309/3399	437/1132	E/Q	Gag/Cag		1		-1	SEL1L3	HGNC	HGNC:29108	protein_coding	YES	CCDS47037.1	ENSP00000382767	Q68CR1		UPI00001D7736	NM_015187.4	tolerated(0.21)		8/24		hmmpanther:PTHR11102,hmmpanther:PTHR11102:SF102																	MODERATE	1	SNV	1			1										PASS		rs1180680714	.												G	3	3	46	25819922	25819922	C	G	1	0	0	0	0	1	0	0	0	14289	835	29	4		4	SEL1L3	4	25819922	Missense_Mutation	SNP	C	C3N-00294_TP	8155274	25819922	164394633	369	13871											
N4BP2	0	.	GRCh38	chr4	40103106	40103106	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatggaacaagtgcttatCaagtacaagaaaccccagtt	17	8	8	8	0	1	2	1	0	0	2	1	3	1	3	2	1	4	3	2	1	8	3			C3N-00294_TP	C3N-00294_NB	C	C																c.1261C>G	p.Gln421Glu	p.Q421E	ENST00000261435	4/18	182	148	34	248	248	0	strelka-mutect	N4BP2,missense_variant,p.Gln421Glu,ENST00000261435,NM_018177.4;N4BP2,missense_variant,p.Gln68Glu,ENST00000513269,;N4BP2,downstream_gene_variant,,ENST00000515550,;N4BP2,3_prime_UTR_variant,,ENST00000511480,NM_001318359.1;	G	ENST00000261435	Transcript	missense_variant	1677/9744	1261/5313	421/1770	Q/E	Caa/Gaa	COSM3603611	1		1	N4BP2	HGNC	HGNC:29851	protein_coding	YES	CCDS3457.1	ENSP00000261435	Q86UW6		UPI00001A962C	NM_018177.4	deleterious(0)		4/18		hmmpanther:PTHR13308,hmmpanther:PTHR13308:SF21											1						MODERATE	1	SNV	5		1	1										PASS		.	.												G	3	3	46	40103106	40103106	C	G	1	0	0	0	0	1	0	0	0	10114	827	29	4		4	N4BP2	4	40103106	Missense_Mutation	SNP	C	C3N-00294_TP	14283184	40103106	150111449	370	13872											
GRXCR1	0	.	GRCh38	chr4	43030511	43030511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggcttgcaatgaaaatggtCttcagcgttgtaagaactgt	11	12	11	7	2	2	2	1	1	1	1	2	2	2	2	0	2	3	4	0	2	5	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.844C>G	p.Leu282Val	p.L282V	ENST00000399770	4/4	323	268	55	401	401	0	strelka-varscan-mutect	GRXCR1,missense_variant,p.Leu282Val,ENST00000399770,NM_001080476.2;	G	ENST00000399770	Transcript	missense_variant	844/991	844/873	282/290	L/V	Ctt/Gtt		1		1	GRXCR1	HGNC	HGNC:31673	protein_coding	YES	CCDS43225.1	ENSP00000382670	A8MXD5		UPI00004191A5	NM_001080476.2	deleterious(0)		4/4		hmmpanther:PTHR10168:SF65,hmmpanther:PTHR10168																	MODERATE	1	SNV	2			1										PASS		rs1414314632	.												G	3	3	46	43030511	43030511	C	G	1	0	0	0	0	1	0	0	0	6694	913	32	4		4	GRXCR1	4	43030511	Missense_Mutation	SNP	C	C3N-00294_TP	2927405	43030511	147184044	371	13873											
FRYL	0	.	GRCh38	chr4	48546202	48546202	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgatactagaagaggtaGaacttgagctaagccctgag	14	8	12	7	0	0	6	0	3	0	3	0	6	0	6	1	1	5	3	1	1	6	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.5144C>G	p.Ser1715Cys	p.S1715C	ENST00000358350	42/64	319	259	60	345	345	0	strelka-varscan-mutect	FRYL,missense_variant,p.Ser1715Cys,ENST00000358350,NM_015030.1;FRYL,missense_variant,p.Ser1715Cys,ENST00000503238,;FRYL,missense_variant,p.Ser585Cys,ENST00000514617,;FRYL,5_prime_UTR_variant,,ENST00000507873,;FRYL,downstream_gene_variant,,ENST00000507711,;FRYL,non_coding_transcript_exon_variant,,ENST00000513401,;FRYL,downstream_gene_variant,,ENST00000502925,;	C	ENST00000358350	Transcript	missense_variant	5749/11706	5144/9042	1715/3013	S/C	tCt/tGt		1		-1	FRYL	HGNC	HGNC:29127	protein_coding	YES	CCDS43227.1	ENSP00000351113	O94915		UPI0000EBC149	NM_015030.1	deleterious(0)		42/64		hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF9,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	46	48546202	48546202	G	C	1	0	0	0	0	1	0	0	0	5936	942	33	4		4	FRYL	4	48546202	Missense_Mutation	SNP	G	C3N-00294_TP	5515691	48546202	141668353	372	13874											
LNX1	0	.	GRCh38	chr4	53508085	53508085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgtctaggccaggctcgtCtgtcattaaggagatggtgg	7	12	15	7	1	3	1	1	0	2	1	4	2	3	1	1	5	0	2	1	5	2	3			C3N-00294_TP	C3N-00294_NB	C	C																c.523G>C	p.Asp175His	p.D175H	ENST00000263925	3/11	306	265	41	333	333	0	strelka-varscan-mutect	LNX1,missense_variant,p.Asp79His,ENST00000306888,NM_032622.2;LNX1,missense_variant,p.Asp175His,ENST00000263925,NM_001126328.2;RP11-231C18.3,intron_variant,,ENST00000507166,;LNX1-AS1,intron_variant,,ENST00000510785,;LNX1-AS1,intron_variant,,ENST00000514364,;LNX1-AS1,intron_variant,,ENST00000511989,;LNX1,non_coding_transcript_exon_variant,,ENST00000511398,;	G	ENST00000263925	Transcript	missense_variant	838/2953	523/2187	175/728	D/H	Gac/Cac	COSM3604477,COSM3604478	1		-1	LNX1	HGNC	HGNC:6657	protein_coding	YES	CCDS47057.1	ENSP00000263925	Q8TBB1		UPI000012E7A6	NM_001126328.2	tolerated(0.05)		3/11		hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF14											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	46	53508085	53508085	C	G	1	0	0	0	0	1	0	0	0	8792	913	32	4		4	LNX1	4	53508085	Missense_Mutation	SNP	C	C3N-00294_TP	4961883	53508085	136706470	373	13875											
KIAA1211	0	.	GRCh38	chr4	56315194	56315194	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgcccgcaaaggacacGgggctcaccgctgctcccca	8	4	12	17	4	1	1	1	1	0	0	2	2	2	2	4	3	1	4	4	3	1	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1692G>A	p.=	p.T564T	ENST00000504228	6/9	126	64	62	142	142	0	strelka-varscan-mutect	KIAA1211,synonymous_variant,p.=,ENST00000504228,;KIAA1211,synonymous_variant,p.=,ENST00000541073,;KIAA1211,synonymous_variant,p.=,ENST00000264229,NM_020722.1;KIAA1211,downstream_gene_variant,,ENST00000636006,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;	A	ENST00000504228	Transcript	synonymous_variant	1797/4628	1692/3702	564/1233	T	acG/acA		1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309				6/9																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	46	56315194	56315194	G	A	1	0	0	0	0	0	0	0	1	8107	1103	39	1		1	KIAA1211	4	56315194	Silent	SNP	G	C3N-00294_TP	2807109	56315194	133899361	374	13876											
CENPC	0	.	GRCh38	chr4	67519350	67519350	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgtttttgcatccaaaaGaacagaaggtgagccaacgg	15	8	11	7	1	0	4	0	1	0	3	1	4	1	4	2	2	4	2	2	2	5	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.484C>G	p.Leu162Val	p.L162V	ENST00000273853	6/19	166	137	29	270	270	0	strelka-varscan-mutect	CENPC,missense_variant,p.Leu162Val,ENST00000273853,NM_001812.2;CENPC,missense_variant,p.Leu162Val,ENST00000506882,;CENPC,missense_variant,p.Leu69Val,ENST00000513216,;CENPC,non_coding_transcript_exon_variant,,ENST00000510189,;	C	ENST00000273853	Transcript	missense_variant	735/6940	484/2832	162/943	L/V	Ctt/Gtt		1		-1	CENPC	HGNC	HGNC:1854	protein_coding	YES	CCDS47063.1	ENSP00000273853	Q03188		UPI00004135A3	NM_001812.2	tolerated(0.17)		6/19		Pfam_domain:PF15622,hmmpanther:PTHR16684																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	67519350	67519350	G	C	1	0	0	0	0	1	0	0	0	2937	942	33	4		4	CENPC	4	67519350	Missense_Mutation	SNP	G	C3N-00294_TP	11204156	67519350	122695205	375	13877											
UBA6	0	.	GRCh38	chr4	67626393	67626393	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attagataaaatagccttttCtagttggaaaattgcattcc	14	15	6	6	0	1	1	0	0	1	1	2	2	2	2	2	1	2	2	2	1	7	9	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2485G>C	p.Glu829Gln	p.E829Q	ENST00000322244	28/33	117	93	24	234	234	0	strelka-varscan-mutect	UBA6,missense_variant,p.Glu829Gln,ENST00000322244,NM_018227.5;UBA6,downstream_gene_variant,,ENST00000505673,;UBA6,upstream_gene_variant,,ENST00000514261,;	G	ENST00000322244	Transcript	missense_variant	2545/9564	2485/3159	829/1052	E/Q	Gaa/Caa		1		-1	UBA6	HGNC	HGNC:25581	protein_coding	YES	CCDS3516.1	ENSP00000313454	A0AVT1	A0A024RDB0	UPI000004A4F7	NM_018227.5	tolerated(0.46)		28/33		hmmpanther:PTHR10953:SF141,hmmpanther:PTHR10953,Pfam_domain:PF10585,Gene3D:1y8qD02,TIGRFAM_domain:TIGR01408,Pfam_domain:PF00899,Superfamily_domains:SSF69572																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	67626393	67626393	C	G	1	0	0	0	0	1	0	0	0	17351	922	32	4		4	UBA6	4	67626393	Missense_Mutation	SNP	C	C3N-00294_TP	107043	67626393	122588162	376	13878											
UGT2A1	0	.	GRCh38	chr4	69639412	69639412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatcacttcaaaattcacagGagaatcgggattggagttga	14	11	10	6	1	3	2	3	1	0	1	4	5	3	4	0	3	0	1	0	3	4	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.832C>T	p.Pro278Ser	p.P278S	ENST00000514019	3/7	63	50	13	105	105	0	strelka-varscan-mutect	UGT2A1,missense_variant,p.Pro278Ser,ENST00000514019,NM_001252274.2;UGT2A2,missense_variant,p.Pro77Ser,ENST00000604629,NM_001105677.2;UGT2A2,missense_variant,p.Pro77Ser,ENST00000604021,NM_001301233.1;UGT2A1,intron_variant,,ENST00000503640,NM_006798.4;UGT2A1,intron_variant,,ENST00000512704,NM_001301239.1;UGT2A1,intron_variant,,ENST00000286604,NM_001252275.2;	A	ENST00000514019	Transcript	missense_variant	948/2376	832/2082	278/693	P/S	Cct/Tct		1		-1	UGT2A1	HGNC	HGNC:12542	protein_coding	YES	CCDS58902.1	ENSP00000425497		A0A140T9Z0	UPI0004620AF5	NM_001252274.2	tolerated(0.47)		3/7		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF229,Superfamily_domains:SSF53756																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	46	69639412	69639412	G	A	1	0	0	0	0	1	0	0	0	17478	1174	41	3		3	UGT2A1	4	69639412	Missense_Mutation	SNP	G	C3N-00294_TP	2013019	69639412	120575143	377	13879											
RASSF6	0	.	GRCh38	chr4	73576646	73576646	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttctgcatctttatccatGaggaaaatgcgagcattctt	10	15	7	9	1	4	1	0	1	4	0	5	3	5	2	1	1	3	2	1	1	3	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.903C>G	p.=	p.L301L	ENST00000342081	9/11	157	118	39	156	156	0	strelka-varscan-mutect	RASSF6,synonymous_variant,p.=,ENST00000307439,NM_177532.4;RASSF6,synonymous_variant,p.=,ENST00000342081,NM_201431.2;RASSF6,synonymous_variant,p.=,ENST00000395777,NM_001270391.1;RASSF6,synonymous_variant,p.=,ENST00000335049,NM_001270392.1;	C	ENST00000342081	Transcript	synonymous_variant	1034/4331	903/1110	301/369	L	ctC/ctG		1		-1	RASSF6	HGNC	HGNC:20796	protein_coding	YES	CCDS3558.1	ENSP00000340578	Q6ZTQ3		UPI00001C0C6F	NM_201431.2			9/11		PROSITE_profiles:PS50200,hmmpanther:PTHR22738,hmmpanther:PTHR22738:SF3,Pfam_domain:PF00788,SMART_domains:SM00314,Superfamily_domains:SSF54236																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	46	73576646	73576646	G	C	1	0	0	0	0	0	0	0	1	13251	1277	45	4		4	RASSF6	4	73576646	Silent	SNP	G	C3N-00294_TP	3937234	73576646	116637909	378	13880											
USO1	0	.	GRCh38	chr4	75790794	75790794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacttttaccttctaccattGatggtaaataatttagttct	11	18	4	8	0	2	1	0	1	2	0	2	1	2	1	2	1	2	2	2	1	6	10	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1249G>C	p.Asp417His	p.D417H	ENST00000264904	13/26	74	70	4	92	92	0	strelka-varscan-mutect	USO1,missense_variant,p.Asp417His,ENST00000264904,NM_001290049.1;USO1,missense_variant,p.Asp413His,ENST00000514213,NM_003715.3;	C	ENST00000264904	Transcript	missense_variant	1471/4135	1249/2922	417/973	D/H	Gat/Cat		1		1	USO1	HGNC	HGNC:30904	protein_coding	YES	CCDS77929.1	ENSP00000264904	O60763		UPI0001D1479E	NM_001290049.1	deleterious(0)		13/26		Pfam_domain:PF04869,hmmpanther:PTHR10013																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	46	75790794	75790794	G	C	1	0	0	0	0	1	0	0	0	17573	1304	45	4		4	USO1	4	75790794	Missense_Mutation	SNP	G	C3N-00294_TP	2214148	75790794	114423761	379	13881											
ANTXR2	0	.	GRCh38	chr4	80008584	80008584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggagtagcagtaacacCaaaataacaatgatggctgc	16	6	9	10	0	0	1	0	1	0	0	0	2	0	2	2	2	4	4	2	2	6	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.978G>T	p.Leu326Phe	p.L326F	ENST00000307333	12/16	258	209	49	255	255	0	strelka-varscan-mutect	ANTXR2,missense_variant,p.Leu326Phe,ENST00000403729,NM_058172.5;ANTXR2,missense_variant,p.Leu326Phe,ENST00000307333,NM_001145794.1;ANTXR2,missense_variant,p.Leu249Phe,ENST00000404191,NM_001286780.1,NM_001286781.1;ANTXR2,missense_variant,p.Leu223Phe,ENST00000346652,;ANTXR2,3_prime_UTR_variant,,ENST00000449651,;	A	ENST00000307333	Transcript	missense_variant	981/1473	978/1470	326/489	L/F	ttG/ttT		1		-1	ANTXR2	HGNC	HGNC:21732	protein_coding	YES	CCDS47086.1	ENSP00000306185	P58335		UPI000036725D	NM_001145794.1	tolerated(0.07)		12/16		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR16059:SF13,hmmpanther:PTHR16059,PIRSF_domain:PIRSF038023																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	80008584	80008584	C	A	1	0	0	0	0	1	0	0	0	819	593	21	2		2	ANTXR2	4	80008584	Missense_Mutation	SNP	C	C3N-00294_TP	4217790	80008584	110205971	380	13882											
SEC31A	0	.	GRCh38	chr4	82829017	82829017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccttcttctttttgggtaCtctgttcaaagctggagggt	6	17	10	8	0	4	0	1	0	3	0	4	1	4	1	1	3	3	3	1	3	3	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3010G>A	p.Val1004Ile	p.V1004I	ENST00000395310	23/27	127	120	7	138	138	0	strelka-varscan-mutect	SEC31A,missense_variant,p.Val1004Ile,ENST00000395310,NM_001077207.2;SEC31A,missense_variant,p.Val1004Ile,ENST00000448323,NM_014933.3;SEC31A,missense_variant,p.Val1035Ile,ENST00000505472,;SEC31A,missense_variant,p.Val1004Ile,ENST00000355196,;SEC31A,missense_variant,p.Val984Ile,ENST00000443462,NM_001191049.1;SEC31A,missense_variant,p.Val965Ile,ENST00000348405,NM_016211.3;SEC31A,missense_variant,p.Val890Ile,ENST00000311785,NM_001077206.2;SEC31A,missense_variant,p.Val890Ile,ENST00000509142,;SEC31A,missense_variant,p.Val989Ile,ENST00000508502,NM_001077208.2;SEC31A,missense_variant,p.Val851Ile,ENST00000513858,NM_001300744.1;SEC31A,missense_variant,p.Val851Ile,ENST00000500777,;SEC31A,missense_variant,p.Val950Ile,ENST00000505984,NM_001300745.1;SEC31A,missense_variant,p.Val753Ile,ENST00000264405,;SEC31A,missense_variant,p.Val167Ile,ENST00000503937,;SEC31A,missense_variant,p.Val101Ile,ENST00000511338,;SEC31A,upstream_gene_variant,,ENST00000515062,;SEC31A,non_coding_transcript_exon_variant,,ENST00000515749,;SEC31A,non_coding_transcript_exon_variant,,ENST00000514362,;SEC31A,non_coding_transcript_exon_variant,,ENST00000509691,;	T	ENST00000395310	Transcript	missense_variant	3193/4259	3010/3663	1004/1220	V/I	Gta/Ata		1		-1	SEC31A	HGNC	HGNC:17052	protein_coding	YES	CCDS3596.1	ENSP00000378721	O94979	A0A024RDD3	UPI000003E7E1	NM_001077207.2	tolerated(0.24)		23/27		hmmpanther:PTHR13923:SF23,hmmpanther:PTHR13923																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	82829017	82829017	C	T	1	0	0	0	0	1	0	0	0	14275	565	20	3		3	SEC31A	4	82829017	Missense_Mutation	SNP	C	C3N-00294_TP	2820433	82829017	107385538	381	13883											
ARHGAP24	0	.	GRCh38	chr4	85721894	85721894	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttttcacagggtactattTttctgcctggaaataaagtt	10	17	8	6	0	2	0	1	0	1	0	2	1	2	1	1	2	2	3	1	2	5	8	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.190T>G	p.Phe64Val	p.F64V	ENST00000395184	3/10	217	188	29	330	330	0	strelka-varscan-mutect	ARHGAP24,missense_variant,p.Phe64Val,ENST00000395184,NM_001025616.2;ARHGAP24,missense_variant,p.Phe64Val,ENST00000503995,;ARHGAP24,5_prime_UTR_variant,,ENST00000512201,;MIR4451,upstream_gene_variant,,ENST00000580577,;ARHGAP24,non_coding_transcript_exon_variant,,ENST00000506421,;ARHGAP24,non_coding_transcript_exon_variant,,ENST00000509709,;	G	ENST00000395184	Transcript	missense_variant	656/4661	190/2247	64/748	F/V	Ttt/Gtt		1		1	ARHGAP24	HGNC	HGNC:25361	protein_coding	YES	CCDS34025.1	ENSP00000378611	Q8N264		UPI00001AF1D9	NM_001025616.2	tolerated(0.62)		3/10		PROSITE_profiles:PS50003,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF19,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	46	85721894	85721894	T	G	1	0	0	0	0	1	0	0	0	998	1841	64	5		5	ARHGAP24	4	85721894	Missense_Mutation	SNP	T	C3N-00294_TP	2892877	85721894	104492661	382	13884											
UNC5C	0	.	GRCh38	chr4	95170258	95170258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggatagggagagggatgctGaaagcactgggccccgtgac	10	5	17	9	2	0	3	0	2	0	1	0	6	0	5	2	4	2	2	2	4	2	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2526C>T	p.=	p.F842F	ENST00000453304	15/16	202	166	36	280	280	0	strelka-varscan-mutect	UNC5C,synonymous_variant,p.=,ENST00000453304,NM_003728.3;UNC5C,synonymous_variant,p.=,ENST00000610318,;	A	ENST00000453304	Transcript	synonymous_variant	2875/9875	2526/2796	842/931	F	ttC/ttT		1		-1	UNC5C	HGNC	HGNC:12569	protein_coding	YES	CCDS3643.1	ENSP00000406022	O95185		UPI000004E6A5	NM_003728.3			15/16		Gene3D:1.10.533.10,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7,SMART_domains:SM00005,Superfamily_domains:SSF47986																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	95170258	95170258	G	A	1	0	0	0	0	0	0	0	1	17517	1281	45	3		3	UNC5C	4	95170258	Silent	SNP	G	C3N-00294_TP	9448364	95170258	95044297	383	13885											
UNC5C	0	.	GRCh38	chr4	95202875	95202875	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaccagggcgtaggtgctGaggttctctgtgaggatgtg	6	11	16	8	1	1	2	0	2	1	0	2	3	1	3	2	4	2	3	2	4	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1992C>T	p.=	p.L664L	ENST00000453304	12/16	406	339	67	489	489	0	strelka-varscan-mutect	UNC5C,synonymous_variant,p.=,ENST00000453304,NM_003728.3;UNC5C,synonymous_variant,p.=,ENST00000610318,;UNC5C,synonymous_variant,p.=,ENST00000513796,;	A	ENST00000453304	Transcript	synonymous_variant	2341/9875	1992/2796	664/931	L	ctC/ctT		1		-1	UNC5C	HGNC	HGNC:12569	protein_coding	YES	CCDS3643.1	ENSP00000406022	O95185		UPI000004E6A5	NM_003728.3			12/16		hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	95202875	95202875	G	A	1	0	0	0	0	0	0	0	1	17517	1277	45	3		3	UNC5C	4	95202875	Silent	SNP	G	C3N-00294_TP	32617	95202875	95011680	384	13886											
RAP1GDS1	0	.	GRCh38	chr4	98418720	98418720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttatggatttactggacaGacatgtagaagatggaaatg	15	11	11	4	0	0	3	0	0	0	3	0	6	0	6	0	3	1	1	0	3	5	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1106G>C	p.Arg369Thr	p.R369T	ENST00000339360	10/15	90	79	11	117	117	0	strelka-varscan-mutect	RAP1GDS1,missense_variant,p.Arg368Thr,ENST00000408927,NM_001100427.1;RAP1GDS1,missense_variant,p.Arg369Thr,ENST00000453712,NM_021159.4;RAP1GDS1,missense_variant,p.Arg369Thr,ENST00000339360,NM_001100426.1;RAP1GDS1,missense_variant,p.Arg320Thr,ENST00000380158,NM_001100428.1;RAP1GDS1,missense_variant,p.Arg319Thr,ENST00000408900,NM_001100429.1;RAP1GDS1,missense_variant,p.Arg277Thr,ENST00000264572,NM_001100430.1;RAP1GDS1,missense_variant,p.Arg178Thr,ENST00000509501,;	C	ENST00000339360	Transcript	missense_variant	1154/2092	1106/1827	369/608	R/T	aGa/aCa		1		1	RAP1GDS1	HGNC	HGNC:9859	protein_coding	YES	CCDS47105.1	ENSP00000340454	P52306		UPI000004A01F	NM_001100426.1	tolerated(0.17)		10/15		Gene3D:1.25.10.10,Pfam_domain:PF00514,PROSITE_profiles:PS50176,hmmpanther:PTHR10957,hmmpanther:PTHR10957:SF2,SMART_domains:SM00185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	98418720	98418720	G	C	1	0	0	0	0	1	0	0	0	13198	942	33	4		4	RAP1GDS1	4	98418720	Missense_Mutation	SNP	G	C3N-00294_TP	3215845	98418720	91795835	385	13887											
RP11-766F14.2	0	.	GRCh38	chr4	99654434	99654434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgcagcaagcctgagggagGtgggaaggctcctggatgag	9	5	18	9	1	0	2	0	2	0	0	1	5	1	5	3	5	2	3	3	5	2	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.215C>A	p.Thr72Asn	p.T72N	ENST00000511828	1/2	125	66	59	128	128	0	strelka-varscan-mutect	RP11-766F14.2,missense_variant,p.Thr72Asn,ENST00000511828,;	T	ENST00000511828	Transcript	missense_variant	215/10086	215/5382	72/1793	T/N	aCc/aAc		1		-1	RP11-766F14.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000427555		D6RIA3	UPI0001D3B6FE		tolerated_low_confidence(0.14)		1/2																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	99654434	99654434	G	T	1	0	0	0	0	1	0	0	0	13762	1261	44	2		2	RP11-766F14.2	4	99654434	Missense_Mutation	SNP	G	C3N-00294_TP	1235714	99654434	90560121	386	13888											
BANK1	0	.	GRCh38	chr4	102025250	102025250	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaggaagacatacgggcaGagtgcagatggagctgaggc	13	4	17	7	1	0	4	0	1	0	3	0	6	0	6	0	4	4	4	0	4	2	1			C3N-00294_TP	C3N-00294_NB	G	G																c.1335G>A	p.=	p.Q445Q	ENST00000322953	9/17	183	140	43	185	185	0	strelka-varscan-mutect	BANK1,synonymous_variant,p.=,ENST00000504592,;BANK1,synonymous_variant,p.=,ENST00000322953,NM_017935.4;BANK1,synonymous_variant,p.=,ENST00000444316,NM_001083907.2;BANK1,synonymous_variant,p.=,ENST00000428908,NM_001127507.2;BANK1,synonymous_variant,p.=,ENST00000508653,;RP11-498M5.2,intron_variant,,ENST00000505091,;BANK1,non_coding_transcript_exon_variant,,ENST00000510950,;	A	ENST00000322953	Transcript	synonymous_variant	1609/3372	1335/2358	445/785	Q	caG/caA	COSM3775447	1		1	BANK1	HGNC	HGNC:18233	protein_coding	YES	CCDS34038.1	ENSP00000320509	Q8NDB2		UPI0000D6159D	NM_017935.4			9/17		hmmpanther:PTHR16267,hmmpanther:PTHR16267:SF13											1						LOW	1	SNV	1		1	1										PASS		rs1250092036	.												A	2	1	46	102025250	102025250	G	A	1	0	0	0	0	0	0	0	1	1461	933	33	3		3	BANK1	4	102025250	Silent	SNP	G	C3N-00294_TP	2370816	102025250	88189305	387	13889											
NFKB1	0	.	GRCh38	chr4	102606645	102606645	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgataaagttctcagtatCttactcaagcacaaaaaggc	16	10	6	9	0	3	1	2	1	2	0	4	1	3	1	0	1	2	3	0	1	7	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1902C>G	p.Ile634Met	p.I634M	ENST00000226574	17/24	275	214	61	329	329	0	strelka-varscan-mutect	NFKB1,missense_variant,p.Ile634Met,ENST00000226574,NM_003998.3;NFKB1,missense_variant,p.Ile453Met,ENST00000600343,;NFKB1,missense_variant,p.Ile633Met,ENST00000505458,NM_001319226.1;NFKB1,missense_variant,p.Ile633Met,ENST00000394820,NM_001165412.1;	G	ENST00000226574	Transcript	missense_variant	2369/4085	1902/2910	634/969	I/M	atC/atG		1		1	NFKB1	HGNC	HGNC:7794	protein_coding	YES	CCDS3657.1	ENSP00000226574	P19838		UPI0000192724	NM_003998.3	tolerated(0.26)		17/24		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24169,hmmpanther:PTHR24169:SF9,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	102606645	102606645	C	G	1	0	0	0	0	1	0	0	0	10412	903	32	4		4	NFKB1	4	102606645	Missense_Mutation	SNP	C	C3N-00294_TP	581395	102606645	87607910	388	13890											
LEF1	0	.	GRCh38	chr4	108070689	108070689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtctcttgcagaccagcctgGataaagctgcatatgtagct	10	11	10	10	0	1	1	0	0	1	1	2	2	1	2	2	1	5	5	2	1	4	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1090C>T	p.Pro364Ser	p.P364S	ENST00000265165	9/12	113	68	45	145	145	0	strelka-varscan-mutect	LEF1,missense_variant,p.Pro336Ser,ENST00000379951,NM_001130714.2;LEF1,missense_variant,p.Pro364Ser,ENST00000265165,NM_016269.4;LEF1,missense_variant,p.Pro336Ser,ENST00000438313,NM_001130713.2;LEF1,missense_variant,p.Pro268Ser,ENST00000510624,NM_001166119.1;LEF1,non_coding_transcript_exon_variant,,ENST00000503879,;LEF1,non_coding_transcript_exon_variant,,ENST00000504426,;LEF1,non_coding_transcript_exon_variant,,ENST00000510135,;LEF1,non_coding_transcript_exon_variant,,ENST00000509428,;LEF1,non_coding_transcript_exon_variant,,ENST00000505379,;LEF1,non_coding_transcript_exon_variant,,ENST00000514444,;LEF1,non_coding_transcript_exon_variant,,ENST00000505297,;LEF1,non_coding_transcript_exon_variant,,ENST00000504775,;LEF1,non_coding_transcript_exon_variant,,ENST00000512407,;LEF1,3_prime_UTR_variant,,ENST00000506680,;LEF1,non_coding_transcript_exon_variant,,ENST00000507470,;LEF1,non_coding_transcript_exon_variant,,ENST00000505328,;	A	ENST00000265165	Transcript	missense_variant	1745/3068	1090/1200	364/399	P/S	Cca/Tca		1		-1	LEF1	HGNC	HGNC:6551	protein_coding	YES	CCDS3679.1	ENSP00000265165	Q9UJU2	A0A024RDI7	UPI0000052242	NM_016269.4	deleterious(0)		9/12		PROSITE_profiles:PS50118,hmmpanther:PTHR10373,Pfam_domain:PF00505,Gene3D:1.10.30.10,SMART_domains:SM00398,Superfamily_domains:SSF47095																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	108070689	108070689	G	A	1	0	0	0	0	1	0	0	0	8622	1174	41	3		3	LEF1	4	108070689	Missense_Mutation	SNP	G	C3N-00294_TP	5464044	108070689	82143866	389	13891											
EGF	0	.	GRCh38	chr4	109974794	109974794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccacgaggaattgctgttCatccaatggccaagtaggta	13	9	10	9	1	1	0	1	0	0	0	2	2	2	1	3	3	2	4	3	3	6	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1816C>T	p.His606Tyr	p.H606Y	ENST00000265171	12/24	203	166	37	277	277	0	strelka-varscan-mutect	EGF,missense_variant,p.His606Tyr,ENST00000265171,NM_001963.4;EGF,missense_variant,p.His564Tyr,ENST00000509793,NM_001178131.1;EGF,missense_variant,p.His606Tyr,ENST00000503392,NM_001178130.1;EGF,upstream_gene_variant,,ENST00000541061,;EGF,non_coding_transcript_exon_variant,,ENST00000502579,;	T	ENST00000265171	Transcript	missense_variant	2261/4880	1816/3624	606/1207	H/Y	Cat/Tat		1		1	EGF	HGNC	HGNC:3229	protein_coding	YES	CCDS3689.1	ENSP00000265171	P01133		UPI000013D5C8	NM_001963.4	deleterious(0)		12/24		Gene3D:2.120.10.30,Pfam_domain:PF00058,PIRSF_domain:PIRSF001778,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF200,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	109974794	109974794	C	T	1	0	0	0	0	1	0	0	0	4798	826	29	3		3	EGF	4	109974794	Missense_Mutation	SNP	C	C3N-00294_TP	1904105	109974794	80239761	390	13892											
ANK2	0	.	GRCh38	chr4	113358864	113358864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttacactgagacagaaacaGagagcagagagagggccgag	16	3	15	7	1	0	5	0	1	0	5	0	9	0	5	1	1	3	2	1	1	2	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.10246G>C	p.Glu3416Gln	p.E3416Q	ENST00000357077	38/46	162	110	52	144	144	0	strelka-varscan-mutect	ANK2,missense_variant,p.Glu3416Gln,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Glu3383Gln,ENST00000264366,;ANK2,missense_variant,p.Glu426Gln,ENST00000505342,;ANK2,3_prime_UTR_variant,,ENST00000612754,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,intron_variant,,ENST00000508007,;	C	ENST00000357077	Transcript	missense_variant	10299/14196	10246/11874	3416/3957	E/Q	Gag/Cag		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	tolerated(0.1)		38/46		Low_complexity_(Seg):seg,hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	113358864	113358864	G	C	1	0	0	0	0	1	0	0	0	721	943	33	4		4	ANK2	4	113358864	Missense_Mutation	SNP	G	C3N-00294_TP	3384070	113358864	76855691	391	13893											
TRPC3	0	.	GRCh38	chr4	121910175	121910175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataagtgaaatactgtatctCtggtgggagtgtcacttcac	11	13	10	7	0	3	1	2	1	1	0	4	2	3	2	0	2	1	1	0	2	4	4	rs201026202		C3N-00294_TP	C3N-00294_NB	C	C																c.1771G>A	p.Glu591Lys	p.E591K	ENST00000379645	6/12	224	189	35	232	232	0	strelka-varscan-mutect	TRPC3,missense_variant,p.Glu518Lys,ENST00000264811,NM_003305.2;TRPC3,missense_variant,p.Glu591Lys,ENST00000379645,NM_001130698.1;TRPC3,missense_variant,p.Glu463Lys,ENST00000513531,;TRPC3,3_prime_UTR_variant,,ENST00000506449,;	T	ENST00000379645	Transcript	missense_variant	1845/3548	1771/2766	591/921	E/K	Gag/Aag	rs201026202	1		-1	TRPC3	HGNC	HGNC:12335	protein_coding	YES	CCDS47130.1	ENSP00000368966	Q13507		UPI00004C6F61	NM_001130698.1	deleterious(0.04)		6/12		hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520																	MODERATE	1	SNV	1			1										PASS		rs201026202	.												T	3	4	46	121910175	121910175	C	T	1	0	0	0	0	1	0	0	0	17084	922	32	3		3	TRPC3	4	121910175	Missense_Mutation	SNP	C	C3N-00294_TP	8551311	121910175	68304380	392	13894											
KIAA1109	0	.	GRCh38	chr4	122336255	122336255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctgggtagcacttcagtCattgccagaagaaatggtta	11	11	11	8	0	2	2	2	0	0	2	2	2	2	2	2	2	3	3	2	2	4	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.11912C>T	p.Ser3971Leu	p.S3971L	ENST00000264501	70/86	91	71	20	151	151	0	strelka-varscan-mutect	KIAA1109,missense_variant,p.Ser3971Leu,ENST00000264501,;KIAA1109,missense_variant,p.Ser3971Leu,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Ser640Leu,ENST00000438707,;KIAA1109,missense_variant,p.Ser347Leu,ENST00000306802,;KIAA1109,upstream_gene_variant,,ENST00000442707,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000483357,;KIAA1109,downstream_gene_variant,,ENST00000480651,;	T	ENST00000264501	Transcript	missense_variant	12285/15896	11912/15018	3971/5005	S/L	tCa/tTa		1		1	KIAA1109	HGNC	HGNC:26953	protein_coding	YES	CCDS43267.1	ENSP00000264501	Q2LD37		UPI0000DD87B4		deleterious(0)		70/86		hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	122336255	122336255	C	T	1	0	0	0	0	1	0	0	0	8101	838	29	3		3	KIAA1109	4	122336255	Missense_Mutation	SNP	C	C3N-00294_TP	426080	122336255	67878300	393	13895											
SPRY1	0	.	GRCh38	chr4	123402228	123402228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagtgcctttgctctgctGagagcatggtggaatatgga	8	11	15	7	0	1	1	0	1	1	1	1	4	1	3	1	4	4	4	1	4	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.637G>A	p.Glu213Lys	p.E213K	ENST00000610581	3/3	259	191	68	258	258	0	strelka-varscan-mutect	SPRY1,missense_variant,p.Glu213Lys,ENST00000610581,NM_001258038.1;SPRY1,missense_variant,p.Glu213Lys,ENST00000394339,NM_005841.2;SPRY1,missense_variant,p.Glu213Lys,ENST00000622283,NM_001258039.1;SPRY1,missense_variant,p.Glu213Lys,ENST00000339241,NM_199327.2;SPRY1,downstream_gene_variant,,ENST00000507703,;SPRY1,downstream_gene_variant,,ENST00000505319,;SPRY1,downstream_gene_variant,,ENST00000508849,;SPRY1,downstream_gene_variant,,ENST00000515726,;	A	ENST00000610581	Transcript	missense_variant	1076/2608	637/960	213/319	E/K	Gag/Aag		1		1	SPRY1	HGNC	HGNC:11269	protein_coding	YES	CCDS3731.1	ENSP00000481675	O43609		UPI0000035D8F	NM_001258038.1	deleterious(0.01)		3/3		Pfam_domain:PF05210,PROSITE_profiles:PS51227,hmmpanther:PTHR12365,hmmpanther:PTHR12365:SF10																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	46	123402228	123402228	G	A	1	0	0	0	0	1	0	0	0	15461	1291	45	3		3	SPRY1	4	123402228	Missense_Mutation	SNP	G	C3N-00294_TP	1065973	123402228	66812327	394	13896											
FAT4	0	.	GRCh38	chr4	125416489	125416489	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaggatctaacagcaaactCtcatatgttctgtttggtgg	10	13	10	8	1	3	0	1	0	3	0	4	2	3	1	0	3	3	3	0	3	3	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.6885C>G	p.=	p.L2295L	ENST00000394329	6/17	106	79	27	122	122	0	strelka-varscan-mutect	FAT4,synonymous_variant,p.=,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,synonymous_variant,p.=,ENST00000335110,;	G	ENST00000394329	Transcript	synonymous_variant	6898/16123	6885/14946	2295/4981	L	ctC/ctG		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4			6/17		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	46	125416489	125416489	C	G	1	0	0	0	0	0	0	0	1	5552	900	32	4		4	FAT4	4	125416489	Silent	SNP	C	C3N-00294_TP	2014261	125416489	64798066	395	13897											
USP38	0	.	GRCh38	chr4	143213588	143213588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctctgctgcaggctccatGaagaagaaaagatcttgaaa	14	9	9	9	0	2	5	0	2	2	3	4	5	4	5	2	1	2	3	2	1	5	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1612G>A	p.Glu538Lys	p.E538K	ENST00000307017	9/10	57	47	10	62	62	0	strelka-varscan-mutect	USP38,missense_variant,p.Glu538Lys,ENST00000307017,NM_001290326.1,NM_032557.6;USP38,missense_variant,p.Glu538Lys,ENST00000510377,NM_001290325.1;USP38,3_prime_UTR_variant,,ENST00000511739,;	A	ENST00000307017	Transcript	missense_variant	2118/7009	1612/3129	538/1042	E/K	Gaa/Aaa		1		1	USP38	HGNC	HGNC:20067	protein_coding	YES	CCDS3758.1	ENSP00000303434	Q8NB14		UPI0000047AF9	NM_001290326.1,NM_032557.6	deleterious(0)		9/10		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF500,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	143213588	143213588	G	A	1	0	0	0	0	1	0	0	0	17611	1291	45	3		3	USP38	4	143213588	Missense_Mutation	SNP	G	C3N-00294_TP	17797099	143213588	47000967	396	13898											
FREM3	0	.	GRCh38	chr4	143611511	143611511	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataacactgtggaagaaatCgtgcctgtggcagaacctac	14	8	10	9	1	0	2	0	0	0	2	1	3	0	3	2	2	4	1	2	2	6	2			C3N-00294_TP	C3N-00294_NB	C	C																c.5796G>A	p.=	p.T1932T	ENST00000329798	6/8	158	131	27	163	163	0	strelka-varscan-mutect	FREM3,synonymous_variant,p.=,ENST00000329798,NM_001168235.1;FREM3,non_coding_transcript_exon_variant,,ENST00000508899,;GUSBP5,intron_variant,,ENST00000511042,;	T	ENST00000329798	Transcript	synonymous_variant	5796/6729	5796/6420	1932/2139	T	acG/acA	COSM3126304	1		-1	FREM3	HGNC	HGNC:25172	protein_coding	YES	CCDS54808.1	ENSP00000332886	P0C091		UPI0000D615C2	NM_001168235.1			6/8		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF31,SMART_domains:SM00237,Superfamily_domains:SSF141072											1						LOW	1	SNV	5		1	1										PASS		rs1319410474	.												T	2	4	46	143611511	143611511	C	T	1	0	0	0	0	0	0	0	1	5913	871	31	1		1	FREM3	4	143611511	Silent	SNP	C	C3N-00294_TP	397923	143611511	46603044	397	13899											
FREM3	0	.	GRCh38	chr4	143695605	143695605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggggactgtcctgatcttCtgccttcagagacttgctgg	5	13	13	10	0	3	2	1	1	2	1	4	4	4	3	2	3	2	1	2	3	0	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.5071G>A	p.Glu1691Lys	p.E1691K	ENST00000329798	1/8	281	243	38	318	318	0	strelka-varscan-mutect	FREM3,missense_variant,p.Glu1691Lys,ENST00000329798,NM_001168235.1;RP13-578N3.3,upstream_gene_variant,,ENST00000499587,;	T	ENST00000329798	Transcript	missense_variant	5071/6729	5071/6420	1691/2139	E/K	Gaa/Aaa		1		-1	FREM3	HGNC	HGNC:25172	protein_coding	YES	CCDS54808.1	ENSP00000332886	P0C091		UPI0000D615C2	NM_001168235.1	deleterious(0.05)		1/8		Pfam_domain:PF16184,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF31																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	46	143695605	143695605	C	T	1	0	0	0	0	1	0	0	0	5913	922	32	3		3	FREM3	4	143695605	Missense_Mutation	SNP	C	C3N-00294_TP	84094	143695605	46518950	398	13900											
ZNF827	0	.	GRCh38	chr4	145775813	145775813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aataataaggatgtttcttcCcatcactgccttcagaggtg	11	13	8	9	0	3	1	2	0	1	1	4	2	4	2	2	2	1	1	2	2	3	5			C3N-00294_TP	C3N-00294_NB	C	C																c.2669G>A	p.Gly890Glu	p.G890E	ENST00000508784	10/15	206	158	48	196	196	0	strelka-varscan-mutect	ZNF827,missense_variant,p.Gly890Glu,ENST00000508784,NM_001306215.1;ZNF827,missense_variant,p.Gly890Glu,ENST00000379448,NM_178835.3;ZNF827,missense_variant,p.Gly540Glu,ENST00000513320,;ZNF827,upstream_gene_variant,,ENST00000511659,;C4orf51,downstream_gene_variant,,ENST00000510096,;ZNF827,upstream_gene_variant,,ENST00000515386,;	T	ENST00000508784	Transcript	missense_variant	2897/7463	2669/3246	890/1081	G/E	gGg/gAg	COSM222949,COSM222950	1		-1	ZNF827	HGNC	HGNC:27193	protein_coding	YES	CCDS77968.1	ENSP00000421863	Q17R98		UPI0000DA58F8	NM_001306215.1	tolerated(0.94)		10/15		hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	46	145775813	145775813	C	T	1	0	0	0	0	1	0	0	0	18766	623	22	3		3	ZNF827	4	145775813	Missense_Mutation	SNP	C	C3N-00294_TP	2080208	145775813	44438742	399	13901											
TRIM2	0	.	GRCh38	chr4	153294416	153294416	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacctttgatgagctccaGaagactttaaatgtgcgcaa	12	11	8	10	1	0	4	0	2	0	2	2	4	2	4	3	0	2	2	3	0	4	3			C3N-00294_TP	C3N-00294_NB	G	G																c.717G>A	p.=	p.Q239Q	ENST00000338700	5/12	222	175	47	229	229	0	strelka-varscan-mutect	TRIM2,synonymous_variant,p.=,ENST00000338700,NM_015271.4;TRIM2,synonymous_variant,p.=,ENST00000437508,NM_001130067.1;TRIM2,synonymous_variant,p.=,ENST00000494872,;TRIM2,downstream_gene_variant,,ENST00000433687,;TRIM2,downstream_gene_variant,,ENST00000441616,;TRIM2,intron_variant,,ENST00000479711,;	A	ENST00000338700	Transcript	synonymous_variant	782/6735	717/2316	239/771	Q	caG/caA	COSM1052193,COSM1594344	1		1	TRIM2	HGNC	HGNC:15974	protein_coding	YES	CCDS3781.2	ENSP00000339659	Q9C040		UPI00005A60C0	NM_015271.4			5/12		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF2,SMART_domains:SM00502											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	46	153294416	153294416	G	A	1	0	0	0	0	0	0	0	1	16983	933	33	3		3	TRIM2	4	153294416	Silent	SNP	G	C3N-00294_TP	7518603	153294416	36920139	400	13902											
GPM6A	0	.	GRCh38	chr4	175673770	175673770	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaagaaaccttccaccatCagcaaaatgccatacacaaa	18	6	5	12	0	1	2	1	1	0	1	2	2	2	2	4	0	4	1	4	0	6	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.297G>A	p.=	p.L99L	ENST00000280187	4/8	152	126	26	164	164	0	strelka-varscan-mutect	GPM6A,synonymous_variant,p.=,ENST00000280187,NM_005277.4;GPM6A,synonymous_variant,p.=,ENST00000393658,NM_201591.2;GPM6A,synonymous_variant,p.=,ENST00000506894,NM_201592.2;GPM6A,synonymous_variant,p.=,ENST00000515090,NM_001261448.1;GPM6A,synonymous_variant,p.=,ENST00000503397,;GPM6A,synonymous_variant,p.=,ENST00000513365,;GPM6A,synonymous_variant,p.=,ENST00000505561,;GPM6A,synonymous_variant,p.=,ENST00000502754,;GPM6A,synonymous_variant,p.=,ENST00000512897,;GPM6A,synonymous_variant,p.=,ENST00000512610,;GPM6A,synonymous_variant,p.=,ENST00000513667,;GPM6A,synonymous_variant,p.=,ENST00000507540,;GPM6A,synonymous_variant,p.=,ENST00000507520,;GPM6A,synonymous_variant,p.=,ENST00000512509,;GPM6A,synonymous_variant,p.=,ENST00000505375,;GPM6A,synonymous_variant,p.=,ENST00000509865,;	T	ENST00000280187	Transcript	synonymous_variant	343/2854	297/837	99/278	L	ctG/ctA		1		-1	GPM6A	HGNC	HGNC:4460	protein_coding	YES	CCDS3824.1	ENSP00000280187	P51674		UPI000012EAE1	NM_005277.4			4/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR11683,hmmpanther:PTHR11683:SF4,Pfam_domain:PF01275,Prints_domain:PR00214																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	175673770	175673770	C	T	1	0	0	0	0	0	0	0	1	6517	813	29	3		3	GPM6A	4	175673770	Silent	SNP	C	C3N-00294_TP	22379354	175673770	14540785	401	13903											
VEGFC	0	.	GRCh38	chr4	176729581	176729581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagcaaattttatagtctCttctgtccttgagttgaggt	8	17	9	7	0	2	2	0	2	2	0	4	2	3	2	1	1	2	3	1	1	3	6	rs373436555		C3N-00294_TP	C3N-00294_NB	C	C																c.313G>A	p.Glu105Lys	p.E105K	ENST00000618562	2/7	180	141	39	237	237	0	strelka-varscan-mutect	VEGFC,missense_variant,p.Glu105Lys,ENST00000618562,NM_005429.4;VEGFC,non_coding_transcript_exon_variant,,ENST00000507638,;	T	ENST00000618562	Transcript	missense_variant	729/2064	313/1260	105/419	E/K	Gag/Aag	rs373436555	1		-1	VEGFC	HGNC	HGNC:12682	protein_coding	YES	CCDS43285.1	ENSP00000480043	P49767		UPI0000001C2A	NM_005429.4	tolerated(0.13)		2/7		hmmpanther:PTHR12025:SF3,hmmpanther:PTHR12025																	MODERATE	1	SNV	1			1										PASS		rs373436555	.												T	3	4	46	176729581	176729581	C	T	1	0	0	0	0	1	0	0	0	17697	922	32	3		3	VEGFC	4	176729581	Missense_Mutation	SNP	C	C3N-00294_TP	1055811	176729581	13484974	402	13904											
PLEKHG4B	0	.	GRCh38	chr5	163261	163261	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctgttcctctgagccCacccagaccctggccagccg	5	8	9	19	1	2	2	0	1	2	1	3	2	3	2	7	1	3	1	7	1	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2121C>A	p.=	p.P707P	ENST00000283426	11/18	117	108	9	98	98	0	strelka-varscan-mutect	PLEKHG4B,synonymous_variant,p.=,ENST00000637938,;PLEKHG4B,synonymous_variant,p.=,ENST00000283426,NM_052909.3;	A	ENST00000283426	Transcript	synonymous_variant	2171/11515	2121/3816	707/1271	P	ccC/ccA		1		1	PLEKHG4B	HGNC	HGNC:29399	protein_coding	YES	CCDS34124.1	ENSP00000283426	Q96PX9		UPI0000D615EE	NM_052909.3			11/18		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF119																	LOW	1	SNV	1			1										PASS		rs1445657090	.												A	2	1	46	163261	163261	C	A	1	0	0	0	0	0	0	0	1	12165	581	21	2		2	PLEKHG4B	5	163261	Silent	SNP	C	C3N-00294_TP		163261	181374998	403	13905											
SLC9A3	0	.	GRCh38	chr5	524247	524247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctccacctcgacgccccCggcccgcgccagcccgccca	4	2	11	24	6	0	0	0	0	0	0	2	1	1	0	8	2	1	1	8	2	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.76G>A	p.Gly26Arg	p.G26R	ENST00000264938	1/17	250	200	50	161	161	0	strelka-varscan-mutect	SLC9A3,missense_variant,p.Gly26Arg,ENST00000264938,NM_004174.2;SLC9A3,missense_variant,p.Gly26Arg,ENST00000514375,NM_001284351.1;RP11-310P5.2,upstream_gene_variant,,ENST00000515085,;	T	ENST00000264938	Transcript	missense_variant	86/2584	76/2505	26/834	G/R	Ggg/Agg		1		-1	SLC9A3	HGNC	HGNC:11073	protein_coding	YES	CCDS3855.1	ENSP00000264938	P48764		UPI000013D597	NM_004174.2	tolerated(0.47)		1/17		Low_complexity_(Seg):seg,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF90																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	524247	524247	C	T	1	0	0	0	0	1	0	0	0	14995	652	23	1		1	SLC9A3	5	524247	Missense_Mutation	SNP	C	C3N-00294_TP	360986	524247	181014012	404	13906											
SLC6A3	0	.	GRCh38	chr5	1441417	1441417	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttccctgttgaactggccGagggccagctccatgtagaa	8	9	11	13	1	0	2	0	1	0	1	2	3	2	2	5	2	2	3	5	2	3	3	rs148447720		C3N-00294_TP	C3N-00294_NB	G	G																c.360C>T	p.=	p.L120L	ENST00000270349	3/15	344	293	51	239	239	0	strelka-varscan-mutect	SLC6A3,synonymous_variant,p.=,ENST00000270349,NM_001044.4;	A	ENST00000270349	Transcript	synonymous_variant	488/3936	360/1863	120/620	L	ctC/ctT	rs148447720,COSM351164	1		-1	SLC6A3	HGNC	HGNC:11049	protein_coding	YES	CCDS3863.1	ENSP00000270349	Q01959		UPI000013548F	NM_001044.4			3/15		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF38,Pfam_domain:PF00209,Superfamily_domains:0053687											0,1						LOW	1	SNV	1		0,1	1										PASS		rs148447720	.												A	2	1	46	1441417	1441417	G	A	1	0	0	0	0	0	0	0	1	14968	1045	37	1		1	SLC6A3	5	1441417	Silent	SNP	G	C3N-00294_TP	917170	1441417	180096842	405	13907											
NDUFS6	0	.	GRCh38	chr5	1801501	1801501	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccctgggcgccaggtgtttCggggtgcgggtctcgccgac	2	8	17	14	5	1	0	0	0	1	0	3	1	1	0	4	5	1	1	4	5	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.84C>T	p.=	p.F28F	ENST00000274137	1/4	280	241	39	200	200	0	strelka-varscan-mutect	NDUFS6,synonymous_variant,p.=,ENST00000274137,NM_004553.4;NDUFS6,synonymous_variant,p.=,ENST00000469176,;MRPL36,upstream_gene_variant,,ENST00000510999,;MRPL36,upstream_gene_variant,,ENST00000508987,;MRPL36,upstream_gene_variant,,ENST00000505059,NM_032479.3;MRPL36,upstream_gene_variant,,ENST00000505818,;MRPL36,upstream_gene_variant,,ENST00000382647,;NDUFS6,non_coding_transcript_exon_variant,,ENST00000510329,;	T	ENST00000274137	Transcript	synonymous_variant	102/1082	84/375	28/124	F	ttC/ttT		1		1	NDUFS6	HGNC	HGNC:7713	protein_coding	YES	CCDS3866.1	ENSP00000274137	O75380	Q6IBC4	UPI000000DB49	NM_004553.4			1/4		hmmpanther:PTHR13156,PIRSF_domain:PIRSF016564																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	1801501	1801501	C	T	1	0	0	0	0	0	0	0	1	10320	883	31	1		1	NDUFS6	5	1801501	Silent	SNP	C	C3N-00294_TP	360084	1801501	179736758	406	13908											
ICE1	0	.	GRCh38	chr5	5457577	5457577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttagtacaaagtcatcgtGacggtggtagtactgaattt	11	15	10	5	2	1	2	1	2	0	0	2	2	1	2	0	2	2	3	0	2	6	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.937G>A	p.Asp313Asn	p.D313N	ENST00000296564	12/19	189	174	15	182	182	0	strelka-varscan-mutect	ICE1,missense_variant,p.Asp313Asn,ENST00000296564,NM_015325.2;ICE1,downstream_gene_variant,,ENST00000512608,;	A	ENST00000296564	Transcript	missense_variant	1159/7927	937/6801	313/2266	D/N	Gac/Aac		1		1	ICE1	HGNC	HGNC:29154	protein_coding	YES	CCDS47187.1	ENSP00000296564	Q9Y2F5		UPI00015542F9	NM_015325.2	tolerated(0.08)		12/19		hmmpanther:PTHR11852:SF4,hmmpanther:PTHR11852																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	5457577	5457577	G	A	1	0	0	0	0	1	0	0	0	7384	1290	45	3		3	ICE1	5	5457577	Missense_Mutation	SNP	G	C3N-00294_TP	3656076	5457577	176080682	407	13909											
ANKRD33B	0	.	GRCh38	chr5	10638116	10638116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgggttcaccgccctgatGaaagccgccatgcagggtcg	7	8	13	13	4	1	2	1	2	0	0	3	2	1	2	4	2	2	2	4	2	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.585G>A	p.Met195Ile	p.M195I	ENST00000296657	3/4	313	269	44	211	209	2	strelka-varscan-mutect	ANKRD33B,missense_variant,p.Met195Ile,ENST00000296657,NM_001164440.1;ANKRD33B,3_prime_UTR_variant,,ENST00000504806,;	A	ENST00000296657	Transcript	missense_variant	585/9188	585/1485	195/494	M/I	atG/atA		1		1	ANKRD33B	HGNC	HGNC:35240	protein_coding	YES	CCDS47191.1	ENSP00000296657	A6NCL7		UPI00001D7EE7	NM_001164440.1	tolerated(0.09)		3/4		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF1,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	10638116	10638116	G	A	1	0	0	0	0	1	0	0	0	766	1290	45	3		3	ANKRD33B	5	10638116	Missense_Mutation	SNP	G	C3N-00294_TP	5180539	10638116	170900143	408	13910											
CTNND2	0	.	GRCh38	chr5	10992673	10992673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaagtggtattgtgaccatCcatcctgcaaaacacagcac	14	8	7	12	0	0	1	0	1	0	0	2	1	2	1	3	1	3	3	3	1	4	2	rs768816374		C3N-00294_TP	C3N-00294_NB	C	C																c.3089G>A	p.Gly1030Glu	p.G1030E	ENST00000304623	19/22	264	183	81	196	196	0	strelka-varscan-mutect	CTNND2,missense_variant,p.Gly1030Glu,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Gly939Glu,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.Gly693Glu,ENST00000503622,NM_001288716.1;CTNND2,missense_variant,p.Gly125Glu,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,non_coding_transcript_exon_variant,,ENST00000506324,;CTNND2,missense_variant,p.Gly809Glu,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	T	ENST00000304623	Transcript	missense_variant	3279/5481	3089/3678	1030/1225	G/E	gGa/gAa	rs768816374	1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	deleterious(0)		19/22		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9																	MODERATE	1	SNV	1			1										PASS		rs768816374	.												T	3	4	46	10992673	10992673	C	T	1	0	0	0	0	1	0	0	0	3829	869	30	3		3	CTNND2	5	10992673	Missense_Mutation	SNP	C	C3N-00294_TP	354557	10992673	170545586	409	13911											
CTNND2	0	.	GRCh38	chr5	11564987	11564987	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggatccgagcttgcatcGctccagctggctggctacga	6	9	12	14	4	0	0	0	0	0	0	4	3	2	1	2	3	4	6	2	3	1	2			C3N-00294_TP	C3N-00294_NB	G	G																c.244C>T	p.Arg82Ter	p.R82*	ENST00000304623	3/22	247	215	32	166	166	0	strelka-varscan-mutect	CTNND2,stop_gained,p.Arg82Ter,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,stop_gained,p.Arg68Ter,ENST00000508761,;CTNND2,stop_gained,p.Arg68Ter,ENST00000502551,;CTNND2,5_prime_UTR_variant,,ENST00000511377,NM_001288715.1;CTNND2,5_prime_UTR_variant,,ENST00000503622,NM_001288716.1;CTNND2,5_prime_UTR_variant,,ENST00000513598,;CTNND2,non_coding_transcript_exon_variant,,ENST00000504354,;CTNND2,non_coding_transcript_exon_variant,,ENST00000511278,;CTNND2,non_coding_transcript_exon_variant,,ENST00000509868,;CTNND2,stop_gained,p.Arg82Ter,ENST00000513588,;CTNND2,stop_gained,p.Arg82Ter,ENST00000504499,;	A	ENST00000304623	Transcript	stop_gained	434/5481	244/3678	82/1225	R/*	Cga/Tga	COSM1202611	1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1			3/22		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9											1						HIGH	1	SNV	1		1	1										PASS		rs1285911975	.												A	4	1	46	11564987	11564987	G	A	1	0	0	0	0	0	1	0	0	3829	1095	38	1		1	CTNND2	5	11564987	Nonsense_Mutation	SNP	G	C3N-00294_TP	572314	11564987	169973272	410	13912											
PRDM9	0	.	GRCh38	chr5	23527342	23527342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaagccctatgtctgcaggGagtgtgggcggggctttcgc	6	9	17	9	2	1	1	0	0	1	1	2	2	1	2	1	4	2	2	1	4	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2254G>A	p.Glu752Lys	p.E752K	ENST00000296682	11/11	527	462	65	542	542	0	varscan-mutect	PRDM9,missense_variant,p.Glu752Lys,ENST00000296682,NM_020227.2;PRDM9,downstream_gene_variant,,ENST00000635252,;	A	ENST00000296682	Transcript	missense_variant	2436/3691	2254/2685	752/894	E/K	Gag/Aag		1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	tolerated(0.09)		11/11		PROSITE_profiles:PS50157,hmmpanther:PTHR16515:SF10,hmmpanther:PTHR16515,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1295196952	.												A	3	1	46	23527342	23527342	G	A	1	0	0	0	0	1	0	0	0	12595	1175	41	3		3	PRDM9	5	23527342	Missense_Mutation	SNP	G	C3N-00294_TP	11962355	23527342	158010917	411	13913											
DROSHA	0	.	GRCh38	chr5	31409091	31409091	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctggctcttttccttctgtCctaagtgtcaagcaacactg	7	15	7	12	0	4	0	1	0	3	0	6	0	6	0	2	1	2	2	2	1	3	4			C3N-00294_TP	C3N-00294_NB	C	C																c.3819G>C	p.Arg1273Ser	p.R1273S	ENST00000511367	32/35	241	211	30	167	167	0	strelka-varscan-mutect	DROSHA,missense_variant,p.Arg1273Ser,ENST00000511367,NM_013235.4;DROSHA,missense_variant,p.Arg1273Ser,ENST00000344624,;DROSHA,missense_variant,p.Arg1236Ser,ENST00000442743,;DROSHA,missense_variant,p.Arg1236Ser,ENST00000513349,NM_001100412.1;DROSHA,non_coding_transcript_exon_variant,,ENST00000511778,;DROSHA,non_coding_transcript_exon_variant,,ENST00000509067,;DROSHA,upstream_gene_variant,,ENST00000514927,;DROSHA,upstream_gene_variant,,ENST00000512166,;	G	ENST00000511367	Transcript	missense_variant	4064/5305	3819/4125	1273/1374	R/S	agG/agC	COSM1264327	1		-1	DROSHA	HGNC	HGNC:17904	protein_coding	YES	CCDS47195.1	ENSP00000425979	Q9NRR4		UPI0000134351	NM_013235.4	deleterious(0)		32/35		Gene3D:3.30.160.20,HAMAP:MF_00104,Pfam_domain:PF00035,PROSITE_profiles:PS50137,hmmpanther:PTHR11207,SMART_domains:SM00358,Superfamily_domains:SSF54768											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	46	31409091	31409091	C	G	1	0	0	0	0	1	0	0	0	4584	854	30	4		4	DROSHA	5	31409091	Missense_Mutation	SNP	C	C3N-00294_TP	7881749	31409091	150129168	412	13914											
TARS	0	.	GRCh38	chr5	33455029	33455029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgctacggtccgccaataGaaaatggattctattatgac	13	12	8	8	2	1	2	0	1	1	1	2	3	2	3	2	2	2	1	2	2	8	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.637G>A	p.Glu213Lys	p.E213K	ENST00000455217	6/20	296	258	38	228	228	0	strelka-varscan-mutect	TARS,missense_variant,p.Glu180Lys,ENST00000265112,NM_152295.4;TARS,missense_variant,p.Glu180Lys,ENST00000502553,NM_001258437.1;TARS,missense_variant,p.Glu213Lys,ENST00000455217,NM_001258438.1;TARS,downstream_gene_variant,,ENST00000514259,;TARS,downstream_gene_variant,,ENST00000627006,;TARS,missense_variant,p.Arg126Lys,ENST00000507716,;TARS,3_prime_UTR_variant,,ENST00000508361,;TARS,3_prime_UTR_variant,,ENST00000509731,;TARS,downstream_gene_variant,,ENST00000513066,;TARS,upstream_gene_variant,,ENST00000504698,;TARS,downstream_gene_variant,,ENST00000505012,;	A	ENST00000455217	Transcript	missense_variant	759/2523	637/2271	213/756	E/K	Gaa/Aaa		1		1	TARS	HGNC	HGNC:11572	protein_coding	YES	CCDS58943.1	ENSP00000387710	P26639		UPI00017A6D60	NM_001258438.1	deleterious(0.03)		6/20		HAMAP:MF_00184,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF36,TIGRFAM_domain:TIGR00418,Gene3D:1tkeA02,Superfamily_domains:SSF55186																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	46	33455029	33455029	G	A	1	0	0	0	0	1	0	0	0	15958	943	33	3		3	TARS	5	33455029	Missense_Mutation	SNP	G	C3N-00294_TP	2045938	33455029	148083230	413	13915											
ADAMTS12	0	.	GRCh38	chr5	33534852	33534852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcacttttcttgcaggcCtgctggttgcattttttgaa	5	16	10	10	1	1	1	0	1	1	0	1	1	1	1	2	3	3	5	2	3	1	7			C3N-00294_TP	C3N-00294_NB	C	C																c.4587G>T	p.Gln1529His	p.Q1529H	ENST00000504830	23/24	146	99	47	99	98	1	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Gln1529His,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Gln1444His,ENST00000352040,;	A	ENST00000504830	Transcript	missense_variant	4923/8774	4587/4785	1529/1594	Q/H	caG/caT	COSM1567714	1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	deleterious(0)		23/24		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,SMART_domains:SM00209,Superfamily_domains:SSF82895											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	46	33534852	33534852	C	A	1	0	0	0	0	1	0	0	0	301	680	24	2		2	ADAMTS12	5	33534852	Missense_Mutation	SNP	C	C3N-00294_TP	79823	33534852	148003407	414	13916											
RXFP3	0	.	GRCh38	chr5	33937750	33937750	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgtcctgtccttcttccTgtgttggctgcccaaccagg	3	14	10	14	1	1	0	0	0	1	0	4	0	4	0	5	2	2	3	5	2	1	4	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.1010T>A	p.Leu337Gln	p.L337Q	ENST00000330120	1/1	443	311	132	355	355	0	strelka-varscan-mutect	RXFP3,missense_variant,p.Leu337Gln,ENST00000330120,NM_016568.3;	A	ENST00000330120	Transcript	missense_variant	1365/1852	1010/1410	337/469	L/Q	cTg/cAg		1		1	RXFP3	HGNC	HGNC:24883	protein_coding	YES	CCDS3900.1	ENSP00000328708	Q9NSD7		UPI0000046AEB	NM_016568.3	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF70,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	46	33937750	33937750	T	A	1	0	0	0	0	1	0	0	0	14022	1580	55	4		4	RXFP3	5	33937750	Missense_Mutation	SNP	T	C3N-00294_TP	402898	33937750	147600509	415	13917											
LMBRD2	0	.	GRCh38	chr5	36122448	36122448	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagttcgacggtgtctctGaactgaataaatcacctaaa	13	12	8	8	2	2	3	1	3	1	0	4	4	2	3	1	1	1	1	1	1	6	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.952C>T	p.Gln318Ter	p.Q318*	ENST00000296603	9/18	281	246	35	225	225	0	strelka-varscan-mutect	LMBRD2,stop_gained,p.Gln318Ter,ENST00000296603,NM_001007527.1;	A	ENST00000296603	Transcript	stop_gained	1415/8185	952/2088	318/695	Q/*	Cag/Tag		1		-1	LMBRD2	HGNC	HGNC:25287	protein_coding	YES	CCDS34145.1	ENSP00000296603	Q68DH5		UPI00001602FC	NM_001007527.1			9/18		Pfam_domain:PF04791,hmmpanther:PTHR21355,hmmpanther:PTHR21355:SF4																	HIGH	1	SNV	1			1										PASS		rs1252172317	.												A	4	1	46	36122448	36122448	G	A	1	0	0	0	0	0	1	0	0	8767	1299	45	3		3	LMBRD2	5	36122448	Nonsense_Mutation	SNP	G	C3N-00294_TP	2184698	36122448	145415811	416	13918											
NADK2	0	.	GRCh38	chr5	36217817	36217817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttagctgctgctcgtgaaGgtccacaggtacagggttta	8	11	13	9	1	0	1	0	1	0	0	2	1	1	1	1	3	4	6	1	3	4	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.712C>T	p.Leu238Phe	p.L238F	ENST00000381937	6/12	426	386	40	366	365	1	strelka-varscan-mutect	NADK2,missense_variant,p.Leu75Phe,ENST00000397338,NM_001287340.1;NADK2,missense_variant,p.Leu75Phe,ENST00000282512,NM_153013.4;NADK2,missense_variant,p.Leu238Phe,ENST00000381937,NM_001085411.2;NADK2,missense_variant,p.Leu75Phe,ENST00000506945,NM_001287341.1;NADK2,missense_variant,p.Leu238Phe,ENST00000514504,;NADK2,missense_variant,p.Leu75Phe,ENST00000617628,;NADK2,missense_variant,p.Leu75Phe,ENST00000511088,;NADK2-AS1,upstream_gene_variant,,ENST00000501794,;NADK2,upstream_gene_variant,,ENST00000511613,;NADK2,upstream_gene_variant,,ENST00000509225,;NADK2,non_coding_transcript_exon_variant,,ENST00000404560,;	A	ENST00000381937	Transcript	missense_variant	712/2243	712/1329	238/442	L/F	Ctt/Ttt		1		-1	NADK2	HGNC	HGNC:26404	protein_coding	YES	CCDS47197.1	ENSP00000371362	Q4G0N4		UPI000150640C	NM_001085411.2	deleterious(0)		6/12		hmmpanther:PTHR13158,PIRSF_domain:PIRSF017565,Pfam_domain:PF01513																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	46	36217817	36217817	G	A	1	0	0	0	0	1	0	0	0	10144	1000	35	3		3	NADK2	5	36217817	Missense_Mutation	SNP	G	C3N-00294_TP	95369	36217817	145320442	417	13919											
NIPBL	0	.	GRCh38	chr5	36976339	36976339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggatgcattggctgaaattGagcgaatagagagagaatca	15	9	13	4	1	1	4	1	2	0	2	1	8	1	5	0	2	2	2	0	2	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1432G>C	p.Glu478Gln	p.E478Q	ENST00000282516	9/47	110	94	16	119	119	0	strelka-varscan-mutect	NIPBL,missense_variant,p.Glu478Gln,ENST00000282516,NM_133433.3;NIPBL,missense_variant,p.Glu478Gln,ENST00000448238,NM_015384.4;NIPBL,intron_variant,,ENST00000621733,;NIPBL,non_coding_transcript_exon_variant,,ENST00000504430,;NIPBL,downstream_gene_variant,,ENST00000505998,;	C	ENST00000282516	Transcript	missense_variant	1931/10435	1432/8415	478/2804	E/Q	Gag/Cag		1		1	NIPBL	HGNC	HGNC:28862	protein_coding	YES	CCDS3920.1	ENSP00000282516	Q6KC79		UPI00003761B5	NM_133433.3	deleterious_low_confidence(0)		9/47		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	36976339	36976339	G	C	1	0	0	0	0	1	0	0	0	10463	1291	45	4		4	NIPBL	5	36976339	Missense_Mutation	SNP	G	C3N-00294_TP	758522	36976339	144561920	418	13920											
C5orf42	0	.	GRCh38	chr5	37108339	37108339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaatcttatggatttctGaaggtatcgtccagggactc	11	12	11	7	1	2	2	0	1	2	1	5	5	3	4	1	3	0	1	1	3	5	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.9371C>T	p.Ser3124Leu	p.S3124L	ENST00000425232	51/52	319	294	25	218	218	0	strelka-varscan-mutect	C5orf42,missense_variant,p.Ser3124Leu,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Ser3124Leu,ENST00000508244,;C5orf42,missense_variant,p.Ser2190Leu,ENST00000514429,;C5orf42,3_prime_UTR_variant,,ENST00000509849,;	A	ENST00000425232	Transcript	missense_variant	9602/11199	9371/9594	3124/3197	S/L	tCa/tTa		1		-1	C5orf42	HGNC	HGNC:25801	protein_coding	YES	CCDS34146.2	ENSP00000389014	Q9H799		UPI0001AAB3EA	NM_023073.3	deleterious(0.03)		51/52		Pfam_domain:PF15392,hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	37108339	37108339	G	A	1	0	0	0	0	1	0	0	0	2100	1294	45	3		3	C5orf42	5	37108339	Missense_Mutation	SNP	G	C3N-00294_TP	132000	37108339	144429920	419	13921											
LIFR	0	.	GRCh38	chr5	38504014	38504014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatttcttaatttcaatttCacataaaaaattaatctttg	16	18	2	5	0	4	1	2	0	2	1	4	1	4	1	0	0	0	0	0	0	6	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1399G>A	p.Glu467Lys	p.E467K	ENST00000263409	10/20	118	105	13	119	119	0	strelka-varscan-mutect	LIFR,missense_variant,p.Glu467Lys,ENST00000263409,NM_002310.5;LIFR,missense_variant,p.Glu467Lys,ENST00000453190,NM_001127671.1;LIFR,non_coding_transcript_exon_variant,,ENST00000503088,;LIFR,upstream_gene_variant,,ENST00000506003,;	T	ENST00000263409	Transcript	missense_variant	1562/10089	1399/3294	467/1097	E/K	Gaa/Aaa		1		-1	LIFR	HGNC	HGNC:6597	protein_coding	YES	CCDS3927.1	ENSP00000263409	P42702		UPI000004CAC2	NM_002310.5	deleterious(0.04)		10/20		PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF105,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	38504014	38504014	C	T	1	0	0	0	0	1	0	0	0	8689	835	29	3		3	LIFR	5	38504014	Missense_Mutation	SNP	C	C3N-00294_TP	1395675	38504014	143034245	420	13922											
RICTOR	0	.	GRCh38	chr5	38955674	38955674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttcattgagttgttcctCaatcaagtcaacatatttgg	10	16	7	8	0	4	1	4	1	0	0	5	1	5	1	1	1	2	3	1	1	4	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2530G>A	p.Glu844Lys	p.E844K	ENST00000296782	26/39	156	135	21	150	150	0	strelka-varscan-mutect	RICTOR,missense_variant,p.Glu844Lys,ENST00000357387,NM_152756.4,NM_001285440.1;RICTOR,missense_variant,p.Glu844Lys,ENST00000296782,NM_001285439.1;RICTOR,non_coding_transcript_exon_variant,,ENST00000503698,;RICTOR,3_prime_UTR_variant,,ENST00000511516,;	T	ENST00000296782	Transcript	missense_variant	2552/7505	2530/5199	844/1732	E/K	Gag/Aag		1		-1	RICTOR	HGNC	HGNC:28611	protein_coding	YES	CCDS68861.1	ENSP00000296782	Q6R327		UPI0000EE67F5	NM_001285439.1	deleterious(0)		26/39		hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298,Gene3D:1.25.10.10,Pfam_domain:PF14663,SMART_domains:SM01303																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	38955674	38955674	C	T	1	0	0	0	0	1	0	0	0	13531	835	29	3		3	RICTOR	5	38955674	Missense_Mutation	SNP	C	C3N-00294_TP	451660	38955674	142582585	421	13923											
C6	0	.	GRCh38	chr5	41186168	41186168	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctccagtgaaagagttatCaaggacttctcctctgggct	9	12	9	11	0	3	2	1	1	2	1	6	3	5	3	3	2	0	2	3	2	3	2	rs779633819		C3N-00294_TP	C3N-00294_NB	C	C																c.628G>C	p.Asp210His	p.D210H	ENST00000263413	6/18	555	477	78	448	448	0	strelka-varscan-mutect	C6,missense_variant,p.Asp210His,ENST00000263413,NM_001115131.2;C6,missense_variant,p.Asp210His,ENST00000337836,NM_000065.3;C6,intron_variant,,ENST00000475349,;	G	ENST00000263413	Transcript	missense_variant	893/3661	628/2805	210/934	D/H	Gat/Cat	rs779633819	1		-1	C6	HGNC	HGNC:1339	protein_coding	YES	CCDS3936.1	ENSP00000263413	P13671		UPI000013D401	NM_001115131.2	deleterious(0.01)		6/18		PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23																	MODERATE	1	SNV	1			1										PASS		rs779633819	.												G	3	3	46	41186168	41186168	C	G	1	0	0	0	0	1	0	0	0	2111	826	29	4		4	C6	5	41186168	Missense_Mutation	SNP	C	C3N-00294_TP	2230494	41186168	140352091	422	13924											
ZNF131	0	.	GRCh38	chr5	43174942	43174942	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtacaaactgaacttctaGaagcagatttggaccacgtg	15	9	9	8	1	1	3	0	1	1	2	1	4	1	4	1	1	4	2	1	1	6	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1681G>C	p.Glu561Gln	p.E561Q	ENST00000509156	7/7	267	230	37	204	204	0	strelka-varscan-mutect	ZNF131,missense_variant,p.Glu527Gln,ENST00000509634,;ZNF131,missense_variant,p.Glu527Gln,ENST00000505606,;ZNF131,missense_variant,p.Glu527Gln,ENST00000306938,NM_003432.2;ZNF131,missense_variant,p.Glu561Gln,ENST00000509156,NM_001297548.1;ZNF131,intron_variant,,ENST00000509931,;ZNF131,3_prime_UTR_variant,,ENST00000510026,;ZNF131,intron_variant,,ENST00000511736,;ZNF131,intron_variant,,ENST00000502623,;ZNF131,downstream_gene_variant,,ENST00000507218,;ZNF131,downstream_gene_variant,,ENST00000507231,;	C	ENST00000509156	Transcript	missense_variant	1717/2063	1681/1872	561/623	E/Q	Gaa/Caa		1		1	ZNF131	HGNC	HGNC:12915	protein_coding	YES	CCDS78005.1	ENSP00000426504	P52739		UPI000013EBAE	NM_001297548.1	tolerated_low_confidence(0.1)		7/7		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF26																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	46	43174942	43174942	G	C	1	0	0	0	0	1	0	0	0	18302	943	33	4		4	ZNF131	5	43174942	Missense_Mutation	SNP	G	C3N-00294_TP	1988774	43174942	138363317	423	13925											
MRPS30	0	.	GRCh38	chr5	44809151	44809151	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcacggctgcggcggatCgagcgctggcaggcgacggt	5	5	19	12	7	0	0	0	0	0	0	1	3	0	1	0	6	3	5	0	6	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.189C>T	p.=	p.I63I	ENST00000507110	1/5	309	248	61	301	301	0	strelka-varscan-mutect	MRPS30,synonymous_variant,p.=,ENST00000507110,NM_016640.3;RP11-53O19.1,upstream_gene_variant,,ENST00000503179,;RP11-53O19.1,upstream_gene_variant,,ENST00000503452,;RP11-53O19.1,upstream_gene_variant,,ENST00000505401,;RP11-53O19.1,upstream_gene_variant,,ENST00000514597,;RP11-53O19.1,upstream_gene_variant,,ENST00000508123,;RP11-53O19.1,upstream_gene_variant,,ENST00000505302,;RP11-53O19.1,upstream_gene_variant,,ENST00000508945,;RP11-53O19.1,upstream_gene_variant,,ENST00000505637,;MRPS30,upstream_gene_variant,,ENST00000515647,;MRPS30,upstream_gene_variant,,ENST00000508129,;	T	ENST00000507110	Transcript	synonymous_variant	227/1678	189/1320	63/439	I	atC/atT		1		1	MRPS30	HGNC	HGNC:8769	protein_coding	YES	CCDS3951.1	ENSP00000424328	Q9NP92		UPI000013C944	NM_016640.3			1/5		hmmpanther:PTHR13014,Pfam_domain:PF07147																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	44809151	44809151	C	T	1	0	0	0	0	0	0	0	1	9817	874	31	1		1	MRPS30	5	44809151	Silent	SNP	C	C3N-00294_TP	1634209	44809151	136729108	424	13926											
HCN1	0	.	GRCh38	chr5	45262634	45262634	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgcgggaggtcggggtcgTagtagacgatgtggaattca	9	9	17	6	4	1	1	1	0	0	1	3	4	1	3	0	5	1	2	0	5	3	3	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.1960A>G	p.Thr654Ala	p.T654A	ENST00000303230	8/8	628	411	217	547	547	0	strelka-varscan-mutect	HCN1,missense_variant,p.Thr654Ala,ENST00000303230,NM_021072.3;HCN1,non_coding_transcript_exon_variant,,ENST00000637305,;	C	ENST00000303230	Transcript	missense_variant	2201/9885	1960/2673	654/890	T/A	Acg/Gcg		1		-1	HCN1	HGNC	HGNC:4845	protein_coding	YES	CCDS3952.1	ENSP00000307342	O60741		UPI00001AED69	NM_021072.3	tolerated(0.54)		8/8		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	45262634	45262634	T	C	1	0	0	0	0	1	0	0	0	6883	1638	57	5		5	HCN1	5	45262634	Missense_Mutation	SNP	T	C3N-00294_TP	453483	45262634	136275625	425	13927											
MAP3K1	0	.	GRCh38	chr5	56882831	56882831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagttcctcagctgcaggttGaaaatggagaagatatcatc	13	11	10	7	0	2	3	2	1	0	2	4	4	3	3	1	2	2	4	1	2	5	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3631G>A	p.Glu1211Lys	p.E1211K	ENST00000399503	14/20	84	75	9	86	86	0	strelka-varscan-mutect	MAP3K1,missense_variant,p.Glu1211Lys,ENST00000399503,NM_005921.1;MAP3K1,upstream_gene_variant,,ENST00000469188,;	A	ENST00000399503	Transcript	missense_variant	3631/7011	3631/4539	1211/1512	E/K	Gaa/Aaa		1		1	MAP3K1	HGNC	HGNC:6848	protein_coding	YES	CCDS43318.1	ENSP00000382423	Q13233		UPI000015153B	NM_005921.1	deleterious(0.04)		14/20		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF414																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	56882831	56882831	G	A	1	0	0	0	0	1	0	0	0	9165	1291	45	3		3	MAP3K1	5	56882831	Missense_Mutation	SNP	G	C3N-00294_TP	11620197	56882831	124655428	426	13928											
MARVELD2	0	.	GRCh38	chr5	69433076	69433076	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgagcagattgccacatCattcggaaagccgacaggtt	12	9	11	9	2	1	3	1	2	0	1	2	5	1	4	2	2	3	2	2	2	1	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1486C>G	p.His496Asp	p.H496D	ENST00000325631	5/7	403	364	39	352	352	0	strelka-varscan-mutect	MARVELD2,missense_variant,p.His484Asp,ENST00000454295,NM_001244734.1;MARVELD2,missense_variant,p.His496Asp,ENST00000325631,NM_001038603.2;MARVELD2,missense_variant,p.His496Asp,ENST00000512803,;MARVELD2,missense_variant,p.His380Asp,ENST00000413223,;MARVELD2,missense_variant,p.His380Asp,ENST00000436532,;	G	ENST00000325631	Transcript	missense_variant	1560/2153	1486/1677	496/558	H/D	Cat/Gat		1		1	MARVELD2	HGNC	HGNC:26401	protein_coding	YES	CCDS34175.1	ENSP00000323264	Q8N4S9		UPI00001416EB	NM_001038603.2	tolerated(0.21)		5/7		hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF3,Pfam_domain:PF07303,Superfamily_domains:0053542																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	69433076	69433076	C	G	1	0	0	0	0	1	0	0	0	9244	826	29	4		4	MARVELD2	5	69433076	Missense_Mutation	SNP	C	C3N-00294_TP	12550245	69433076	112105183	427	13929											
BDP1	0	.	GRCh38	chr5	71509753	71509753	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatttctcccagggagaaGattctagatgtgattgatga	11	12	11	7	0	2	6	0	3	2	3	3	7	2	6	2	1	0	0	2	1	2	4	rs527435694		C3N-00294_TP	C3N-00294_NB	G	G																c.2661G>A	p.=	p.K887K	ENST00000358731	17/39	147	128	19	183	183	0	strelka-varscan-mutect	BDP1,synonymous_variant,p.=,ENST00000358731,NM_018429.2;BDP1,downstream_gene_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,;	A	ENST00000358731	Transcript	synonymous_variant	2924/11073	2661/7875	887/2624	K	aaG/aaA	rs527435694	1		1	BDP1	HGNC	HGNC:13652	protein_coding	YES	CCDS43328.1	ENSP00000351575	A6H8Y1		UPI000020CA90	NM_018429.2			17/39																			LOW	1	SNV	1			1										PASS		rs527435694	.												A	2	1	46	71509753	71509753	G	A	1	0	0	0	0	0	0	0	1	1542	933	33	3		3	BDP1	5	71509753	Silent	SNP	G	C3N-00294_TP	2076677	71509753	110028506	428	13930											
BDP1	0	.	GRCh38	chr5	71510144	71510144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgaacgcaactggaagaGagagttctccaagggagaag	15	7	13	6	1	1	4	0	1	1	3	2	7	1	5	1	2	2	2	1	2	5	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3052G>C	p.Glu1018Gln	p.E1018Q	ENST00000358731	17/39	169	142	27	152	152	0	strelka-varscan-mutect	BDP1,missense_variant,p.Glu1018Gln,ENST00000358731,NM_018429.2;BDP1,downstream_gene_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,;	C	ENST00000358731	Transcript	missense_variant	3315/11073	3052/7875	1018/2624	E/Q	Gag/Cag		1		1	BDP1	HGNC	HGNC:13652	protein_coding	YES	CCDS43328.1	ENSP00000351575	A6H8Y1		UPI000020CA90	NM_018429.2	tolerated(0.07)		17/39																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	71510144	71510144	G	C	1	0	0	0	0	1	0	0	0	1542	943	33	4		4	BDP1	5	71510144	Missense_Mutation	SNP	G	C3N-00294_TP	391	71510144	110028115	429	13931											
SV2C	0	.	GRCh38	chr5	76131961	76131961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctataatggtgaggccaacGatgacgaaggctcaagtgaa	14	7	12	8	2	1	3	1	3	0	0	1	5	1	3	2	3	1	1	2	3	6	2	rs761310792		C3N-00294_TP	C3N-00294_NB	G	G																c.211G>A	p.Asp71Asn	p.D71N	ENST00000502798	2/13	73	55	18	95	95	0	strelka-varscan-mutect	SV2C,missense_variant,p.Asp71Asn,ENST00000502798,NM_014979.3;SV2C,missense_variant,p.Asp71Asn,ENST00000322285,NM_001297716.1;	A	ENST00000502798	Transcript	missense_variant	653/11035	211/2184	71/727	D/N	Gat/Aat	rs761310792	1		1	SV2C	HGNC	HGNC:30670	protein_coding	YES	CCDS43331.1	ENSP00000423541	Q496J9		UPI000011DDBB	NM_014979.3	tolerated(0.23)		2/13		hmmpanther:PTHR23511:SF6,hmmpanther:PTHR23511,TIGRFAM_domain:TIGR01299																	MODERATE	1	SNV	1			1										PASS		rs761310792	.												A	3	1	46	76131961	76131961	G	A	1	0	0	0	0	1	0	0	0	15803	1058	37	1		1	SV2C	5	76131961	Missense_Mutation	SNP	G	C3N-00294_TP	4621817	76131961	105406298	430	13932											
MTX3	0	.	GRCh38	chr5	79988243	79988243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaagggaatactcacgtatCtccaaagaaaaactgagatg	17	9	8	7	1	2	2	1	1	1	2	3	4	2	3	1	1	2	1	1	1	7	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.394G>C	p.Asp132His	p.D132H	ENST00000512560	5/8	96	75	21	129	129	0	strelka-varscan-mutect	MTX3,missense_variant,p.Asp132His,ENST00000512560,NM_001167741.1;MTX3,missense_variant,p.Asp193His,ENST00000509852,NM_001010891.4;MTX3,missense_variant,p.Asp193His,ENST00000512528,;MTX3,intron_variant,,ENST00000617335,;THBS4,upstream_gene_variant,,ENST00000513310,;THBS4,upstream_gene_variant,,ENST00000510218,;	G	ENST00000512560	Transcript	missense_variant	514/4799	394/756	132/251	D/H	Gat/Cat		1		-1	MTX3	HGNC	HGNC:24812	protein_coding	YES	CCDS54872.1	ENSP00000423600	Q5HYI7		UPI0001BDAB0C	NM_001167741.1	deleterious(0)		5/8		Gene3D:1.20.1050.10,Pfam_domain:PF17171,hmmpanther:PTHR12289,hmmpanther:PTHR12289:SF30,Superfamily_domains:SSF47616																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	46	79988243	79988243	C	G	1	0	0	0	0	1	0	0	0	9967	927	32	4		4	MTX3	5	79988243	Missense_Mutation	SNP	C	C3N-00294_TP	3856282	79988243	101550016	431	13933											
FAM81B	0	.	GRCh38	chr5	95436850	95436850	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccagttctgagcaaacctcGaatttaaagatggtccaggg	12	9	11	9	1	1	2	0	1	1	1	3	3	2	2	3	2	2	2	3	2	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.837G>C	p.=	p.S279S	ENST00000283357	7/10	245	201	44	315	315	0	strelka-varscan-mutect	FAM81B,synonymous_variant,p.=,ENST00000283357,NM_152548.2;FAM81B,intron_variant,,ENST00000512365,;FAM81B,synonymous_variant,p.=,ENST00000513110,;FAM81B,3_prime_UTR_variant,,ENST00000507832,;FAM81B,3_prime_UTR_variant,,ENST00000503361,;FAM81B,downstream_gene_variant,,ENST00000513529,;CTD-2538A21.1,upstream_gene_variant,,ENST00000507713,;	C	ENST00000283357	Transcript	synonymous_variant	883/1560	837/1359	279/452	S	tcG/tcC		1		1	FAM81B	HGNC	HGNC:26335	protein_coding	YES	CCDS43341.1	ENSP00000283357	Q96LP2		UPI00005A8996	NM_152548.2			7/10		hmmpanther:PTHR22420,hmmpanther:PTHR22420:SF5																	LOW	1	SNV	1			1										PASS		rs996500686	.												C	2	2	46	95436850	95436850	G	C	1	0	0	0	0	0	0	0	1	5490	1045	37	4		4	FAM81B	5	95436850	Silent	SNP	G	C3N-00294_TP	15448607	95436850	86101409	432	13934											
RHOBTB3	0	.	GRCh38	chr5	95788840	95788840	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttcagtcaaaagcctGaatttcaggatctttcaggt	11	14	7	9	0	7	1	5	1	2	0	7	2	7	2	1	2	1	0	1	2	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1702G>T	p.Glu568Ter	p.E568*	ENST00000379982	11/12	143	87	56	202	202	0	strelka-varscan-mutect	RHOBTB3,stop_gained,p.Glu568Ter,ENST00000379982,NM_014899.3;RHOBTB3,stop_gained,p.Glu150Ter,ENST00000510313,;RHOBTB3,stop_gained,p.Glu199Ter,ENST00000504179,;RHOBTB3,stop_gained,p.Glu71Ter,ENST00000503737,;RHOBTB3,stop_gained,p.Glu10Ter,ENST00000513091,;RHOBTB3,stop_gained,p.Glu8Ter,ENST00000514198,;GLRX,intron_variant,,ENST00000508780,;GLRX,intron_variant,,ENST00000507605,;RHOBTB3,non_coding_transcript_exon_variant,,ENST00000511558,;RHOBTB3,downstream_gene_variant,,ENST00000507186,;	T	ENST00000379982	Transcript	stop_gained	2210/5537	1702/1836	568/611	E/*	Gaa/Taa		1		1	RHOBTB3	HGNC	HGNC:18757	protein_coding	YES	CCDS4077.1	ENSP00000369318	O94955		UPI0000367303	NM_014899.3			11/12																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	46	95788840	95788840	G	T	1	0	0	0	0	0	1	0	0	13508	1291	45	2		2	RHOBTB3	5	95788840	Nonsense_Mutation	SNP	G	C3N-00294_TP	351990	95788840	85749419	433	13935											
ERAP1	0	.	GRCh38	chr5	96781736	96781736	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttctgcagagggcaaattCaatttggcttttctcagtac	9	14	10	8	0	3	1	2	0	2	1	4	1	3	1	0	3	2	5	0	3	3	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2404G>C	p.Glu802Gln	p.E802Q	ENST00000296754	16/20	325	266	59	405	405	0	strelka-varscan-mutect	ERAP1,missense_variant,p.Glu802Gln,ENST00000296754,NM_016442.3;ERAP1,missense_variant,p.Glu802Gln,ENST00000443439,NM_001198541.1,NM_001040458.1;ERAP1,upstream_gene_variant,,ENST00000512852,;CTD-2260A17.1,upstream_gene_variant,,ENST00000512856,;CTD-2260A17.1,upstream_gene_variant,,ENST00000602972,;ERAP1,non_coding_transcript_exon_variant,,ENST00000514604,;CAST,downstream_gene_variant,,ENST00000510098,;ERAP1,downstream_gene_variant,,ENST00000507859,;	G	ENST00000296754	Transcript	missense_variant	2662/5495	2404/2847	802/948	E/Q	Gaa/Caa		1		-1	ERAP1	HGNC	HGNC:18173	protein_coding	YES	CCDS4085.1	ENSP00000296754	Q9NZ08		UPI000045731D	NM_016442.3	tolerated(0.25)		16/20		hmmpanther:PTHR11533:SF156,hmmpanther:PTHR11533,Pfam_domain:PF11838																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	96781736	96781736	C	G	1	0	0	0	0	1	0	0	0	5052	835	29	4		4	ERAP1	5	96781736	Missense_Mutation	SNP	C	C3N-00294_TP	992896	96781736	84756523	434	13936											
CHD1	0	.	GRCh38	chr5	98872469	98872469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtgcaaaggtattaattCttcttcatgggagatgacta	11	16	9	5	0	3	2	1	1	2	1	3	3	3	2	0	2	1	2	0	2	4	7			C3N-00294_TP	C3N-00294_NB	C	C																c.3658G>C	p.Glu1220Gln	p.E1220Q	ENST00000614616	27/36	184	109	75	238	238	0	strelka-varscan-mutect	CHD1,missense_variant,p.Glu1220Gln,ENST00000614616,;CHD1,missense_variant,p.Glu1220Gln,ENST00000284049,NM_001270.2;CHD1,upstream_gene_variant,,ENST00000511067,;CHD1,non_coding_transcript_exon_variant,,ENST00000514344,;CHD1,upstream_gene_variant,,ENST00000512844,;CHD1,upstream_gene_variant,,ENST00000505657,;CHD1,upstream_gene_variant,,ENST00000508756,;CHD1,upstream_gene_variant,,ENST00000414220,;	G	ENST00000614616	Transcript	missense_variant	4225/8095	3658/5133	1220/1710	E/Q	Gaa/Caa	COSM1071548	1		-1	CHD1	HGNC	HGNC:1915	protein_coding	YES	CCDS34204.1	ENSP00000483667	O14646		UPI000013DD75		deleterious(0.01)		27/36													1						MODERATE	1	SNV	5		1	1										PASS		.	.												G	3	3	46	98872469	98872469	C	G	1	0	0	0	0	1	0	0	0	3082	922	32	4		4	CHD1	5	98872469	Missense_Mutation	SNP	C	C3N-00294_TP	2090733	98872469	82665790	435	13937											
KCNN2	0	.	GRCh38	chr5	114363174	114363174	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgttcgaaaagcgcaagcgGctcagcgactacgcgctcat	10	7	11	13	6	2	0	2	0	0	0	3	2	2	0	0	1	4	4	0	1	4	2	rs748037041		C3N-00294_TP	C3N-00294_NB	G	G																c.399G>T	p.=	p.R133R	ENST00000512097	2/9	217	116	101	232	232	0	strelka-varscan-mutect	KCNN2,synonymous_variant,p.=,ENST00000512097,;KCNN2,synonymous_variant,p.=,ENST00000264773,NM_021614.3;KCNN2,synonymous_variant,p.=,ENST00000631899,;KCNN2,5_prime_UTR_variant,,ENST00000610748,NM_001278204.1;KCNN2,non_coding_transcript_exon_variant,,ENST00000507750,;	T	ENST00000512097	Transcript	synonymous_variant	1417/3076	399/1740	133/579	R	cgG/cgT	rs748037041	1		1	KCNN2	HGNC	HGNC:6291	protein_coding	YES	CCDS4114.1	ENSP00000427120	Q9H2S1		UPI000013D56A				2/9		hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF43,Pfam_domain:PF03530,Prints_domain:PR01451																	LOW	1	SNV	5			1										PASS		rs748037041	.												T	2	4	46	114363174	114363174	G	T	1	0	0	0	0	0	0	0	1	7995	1190	42	2		2	KCNN2	5	114363174	Silent	SNP	G	C3N-00294_TP	15490705	114363174	67175085	436	13938											
DMXL1	0	.	GRCh38	chr5	119121058	119121058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccacatcagcaggatcctCatcatgttcacaggaacact	13	9	6	13	0	4	0	4	0	0	0	5	2	5	2	2	2	3	2	2	2	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1021C>T	p.His341Tyr	p.H341Y	ENST00000539542	9/44	129	108	21	175	175	0	strelka-varscan-mutect	DMXL1,missense_variant,p.His341Tyr,ENST00000539542,NM_001290321.2;DMXL1,missense_variant,p.His341Tyr,ENST00000311085,NM_001290322.2,NM_005509.5;DMXL1,missense_variant,p.His341Tyr,ENST00000503802,;DMXL1,non_coding_transcript_exon_variant,,ENST00000514151,;	T	ENST00000539542	Transcript	missense_variant	1202/11236	1021/9147	341/3048	H/Y	Cat/Tat		1		1	DMXL1	HGNC	HGNC:2937	protein_coding	YES	CCDS75289.1	ENSP00000439479		F5H269	UPI000206568B	NM_001290321.2	deleterious(0.05)		9/44		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	119121058	119121058	C	T	1	0	0	0	0	1	0	0	0	4403	826	29	3		3	DMXL1	5	119121058	Missense_Mutation	SNP	C	C3N-00294_TP	4757884	119121058	62417201	437	13939											
DMXL1	0	.	GRCh38	chr5	119170786	119170786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacagataaaaagttggatGacataagttctaactacaca	20	9	6	6	0	1	2	0	1	1	1	1	3	1	3	0	1	3	2	0	1	7	6			C3N-00294_TP	C3N-00294_NB	G	G																c.5995G>A	p.Asp1999Asn	p.D1999N	ENST00000539542	24/44	103	87	16	169	169	0	strelka-varscan-mutect	DMXL1,missense_variant,p.Asp1999Asn,ENST00000539542,NM_001290321.2;DMXL1,missense_variant,p.Asp1999Asn,ENST00000311085,NM_001290322.2,NM_005509.5;DMXL1,non_coding_transcript_exon_variant,,ENST00000507552,;DMXL1,downstream_gene_variant,,ENST00000504497,;	A	ENST00000539542	Transcript	missense_variant	6176/11236	5995/9147	1999/3048	D/N	Gac/Aac	COSM4678193,COSM4678194	1		1	DMXL1	HGNC	HGNC:2937	protein_coding	YES	CCDS75289.1	ENSP00000439479		F5H269	UPI000206568B	NM_001290321.2	tolerated(0.23)		24/44		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	46	119170786	119170786	G	A	1	0	0	0	0	1	0	0	0	4403	1290	45	3		3	DMXL1	5	119170786	Missense_Mutation	SNP	G	C3N-00294_TP	49728	119170786	62367473	438	13940											
FBN2	0	.	GRCh38	chr5	128318203	128318203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgggtgggcagttacactCatagcgaccaggcgtgttga	9	9	14	9	3	1	1	1	1	0	0	2	2	1	1	1	3	2	3	1	3	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.4663G>A	p.Glu1555Lys	p.E1555K	ENST00000508053	42/71	460	387	73	436	436	0	strelka-varscan-mutect	FBN2,missense_variant,p.Glu1555Lys,ENST00000508053,;FBN2,missense_variant,p.Glu1555Lys,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Glu1554Lys,ENST00000619499,;	T	ENST00000508053	Transcript	missense_variant	5638/11132	4663/8739	1555/2912	E/K	Gag/Aag		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		tolerated(0.19)		42/71		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	128318203	128318203	C	T	1	0	0	0	0	1	0	0	0	5566	835	29	3		3	FBN2	5	128318203	Missense_Mutation	SNP	C	C3N-00294_TP	9147417	128318203	53220056	439	13941											
FBN2	0	.	GRCh38	chr5	128393212	128393212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggagaaaagccattgcctCcagggatggggatgaagcct	12	6	14	9	0	0	2	0	1	0	1	1	5	1	4	4	4	3	0	4	4	3	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1388G>A	p.Gly463Glu	p.G463E	ENST00000508053	16/71	379	343	36	396	396	0	strelka-varscan-mutect	FBN2,missense_variant,p.Gly463Glu,ENST00000508053,;FBN2,missense_variant,p.Gly463Glu,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Gly462Glu,ENST00000619499,;FBN2,missense_variant,p.Gly430Glu,ENST00000508989,;	T	ENST00000508053	Transcript	missense_variant	2363/11132	1388/8739	463/2912	G/E	gGa/gAa		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		tolerated(0.78)		16/71		PIRSF_domain:PIRSF036312,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	128393212	128393212	C	T	1	0	0	0	0	1	0	0	0	5566	855	30	3		3	FBN2	5	128393212	Missense_Mutation	SNP	C	C3N-00294_TP	75009	128393212	53145047	440	13942											
ADAMTS19	0	.	GRCh38	chr5	129461151	129461151	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagtcgtgtttcctgcGctctggcgccgggagccggt	3	10	17	11	5	1	0	0	0	1	0	3	2	2	2	3	4	2	2	3	4	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.123G>T	p.=	p.A41A	ENST00000274487	2/23	60	56	4	78	78	0	strelka-mutect	ADAMTS19,synonymous_variant,p.=,ENST00000274487,NM_133638.3;ADAMTS19-AS1,upstream_gene_variant,,ENST00000502827,;ADAMTS19,intron_variant,,ENST00000505791,;ADAMTS19,upstream_gene_variant,,ENST00000502709,;	T	ENST00000274487	Transcript	synonymous_variant	268/5234	123/3624	41/1207	A	gcG/gcT		1		1	ADAMTS19	HGNC	HGNC:17111	protein_coding	YES	CCDS4146.1	ENSP00000274487	Q8TE59		UPI000013DA0D	NM_133638.3			2/23																			LOW	1	SNV	1			1										PASS		rs1210214890	.												T	2	4	46	129461151	129461151	G	T	1	0	0	0	0	0	0	0	1	308	1074	38	1		1	ADAMTS19	5	129461151	Silent	SNP	G	C3N-00294_TP	1067939	129461151	52077108	441	13943											
ADAMTS19	0	.	GRCh38	chr5	129551886	129551886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatttctgtgtgcacaaaGatgaaccatgtgatactgtt	13	13	9	6	0	1	4	0	2	1	2	1	4	1	4	1	0	3	2	1	0	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1333G>A	p.Asp445Asn	p.D445N	ENST00000274487	7/23	56	50	6	120	120	0	strelka-varscan-mutect	ADAMTS19,missense_variant,p.Asp445Asn,ENST00000274487,NM_133638.3;CTC-575N7.1,intron_variant,,ENST00000503616,;	A	ENST00000274487	Transcript	missense_variant	1478/5234	1333/3624	445/1207	D/N	Gat/Aat		1		1	ADAMTS19	HGNC	HGNC:17111	protein_coding	YES	CCDS4146.1	ENSP00000274487	Q8TE59		UPI000013DA0D	NM_133638.3	tolerated(0.42)		7/23		PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF197,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		rs938750004	.												A	3	1	46	129551886	129551886	G	A	1	0	0	0	0	1	0	0	0	308	942	33	3		3	ADAMTS19	5	129551886	Missense_Mutation	SNP	G	C3N-00294_TP	90735	129551886	51986373	442	13944											
UQCRQ	0	.	GRCh38	chr5	132867019	132867019	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccgcattcgggagtctttCtttcgcgtggtgccgcgtga	3	12	14	12	7	2	1	0	1	2	0	4	2	2	2	2	2	1	1	2	2	0	3	rs14664		C3N-00294_TP	C3N-00294_NB	C	C																c.138C>G	p.Phe46Leu	p.F46L	ENST00000378670	2/3	209	156	53	250	250	0	strelka-varscan-mutect	UQCRQ,missense_variant,p.Phe46Leu,ENST00000378670,;UQCRQ,missense_variant,p.Phe46Leu,ENST00000378665,;UQCRQ,missense_variant,p.Phe46Leu,ENST00000378667,NM_014402.4;GDF9,upstream_gene_variant,,ENST00000378673,NM_005260.4;GDF9,upstream_gene_variant,,ENST00000621295,NM_001288825.2;GDF9,upstream_gene_variant,,ENST00000624492,NM_001288824.2;GDF9,upstream_gene_variant,,ENST00000624495,NM_001288828.2,NM_001288826.2;GDF9,upstream_gene_variant,,ENST00000296875,NM_001288827.2;UQCRQ,intron_variant,,ENST00000496429,;GDF9,upstream_gene_variant,,ENST00000464378,;GDF9,upstream_gene_variant,,ENST00000472320,;UQCRQ,non_coding_transcript_exon_variant,,ENST00000498309,;UQCRQ,non_coding_transcript_exon_variant,,ENST00000480372,;	G	ENST00000378670	Transcript	missense_variant	279/839	138/249	46/82	F/L	ttC/ttG	rs14664,COSM5541415	1		1	UQCRQ	HGNC	HGNC:29594	protein_coding	YES	CCDS34237.1	ENSP00000367939	O14949		UPI000015D476		tolerated(0.08)		2/3		hmmpanther:PTHR12119,hmmpanther:PTHR12119:SF3,Pfam_domain:PF02939,Gene3D:1.20.5.210,Superfamily_domains:SSF81508,PD331499											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs14664	.												G	3	3	46	132867019	132867019	C	G	1	0	0	0	0	1	0	0	0	17552	912	32	4		4	UQCRQ	5	132867019	Missense_Mutation	SNP	C	C3N-00294_TP	3315133	132867019	48671240	443	13945											
JADE2	0	.	GRCh38	chr5	134535864	134535864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttttgttgcagatggaaGagaagaggcgaaaatactcc	13	9	12	7	1	0	3	0	0	0	3	1	6	1	4	2	2	2	2	2	2	5	4			C3N-00294_TP	C3N-00294_NB	G	G																c.7G>C	p.Glu3Gln	p.E3Q	ENST00000282605	2/12	132	100	32	139	139	0	strelka-varscan-mutect	JADE2,missense_variant,p.Glu3Gln,ENST00000395003,NM_015288.5;JADE2,missense_variant,p.Glu3Gln,ENST00000361895,NM_001289984.1;JADE2,missense_variant,p.Glu3Gln,ENST00000402835,;JADE2,missense_variant,p.Glu3Gln,ENST00000282605,NM_001308143.1,NM_001289985.1;JADE2,missense_variant,p.Glu3Gln,ENST00000431355,;JADE2,missense_variant,p.Glu3Gln,ENST00000512386,;JADE2,non_coding_transcript_exon_variant,,ENST00000515554,;	C	ENST00000282605	Transcript	missense_variant	93/2748	7/2505	3/834	E/Q	Gag/Cag	COSM5615446,COSM5615447	1		1	JADE2	HGNC	HGNC:22984	protein_coding	YES	CCDS78061.1	ENSP00000282605		G3XAA4	UPI00000437CA	NM_001308143.1,NM_001289985.1	deleterious_low_confidence(0.03)		2/12		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF84											1,1						MODERATE	1	SNV	2		1,1	1										PASS		rs1203374875	.												C	3	2	46	134535864	134535864	G	C	1	0	0	0	0	1	0	0	0	7845	943	33	4		4	JADE2	5	134535864	Missense_Mutation	SNP	G	C3N-00294_TP	1668845	134535864	47002395	444	13946											
DDX46	0	.	GRCh38	chr5	134795003	134795003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgtggtttgctcagatgtgGagcaacaagtggtgggtacc	8	11	16	6	0	1	1	1	0	0	1	1	2	1	2	1	4	4	4	1	4	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1780G>A	p.Glu594Lys	p.E594K	ENST00000452510	14/23	121	85	36	167	167	0	strelka-varscan-mutect	DDX46,missense_variant,p.Glu594Lys,ENST00000452510,NM_001300860.1;DDX46,missense_variant,p.Glu594Lys,ENST00000354283,NM_014829.3;DDX46,downstream_gene_variant,,ENST00000628477,;DDX46,downstream_gene_variant,,ENST00000509178,;DDX46,3_prime_UTR_variant,,ENST00000507392,;DDX46,non_coding_transcript_exon_variant,,ENST00000503946,;DDX46,downstream_gene_variant,,ENST00000513592,;	A	ENST00000452510	Transcript	missense_variant	1938/5689	1780/3099	594/1032	E/K	Gag/Aag		1		1	DDX46	HGNC	HGNC:18681	protein_coding	YES	CCDS75306.1	ENSP00000416534		A0A0C4DG89	UPI000006F4C9	NM_001300860.1	tolerated(0.14)		14/23		Low_complexity_(Seg):seg,PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF158,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	134795003	134795003	G	A	1	0	0	0	0	1	0	0	0	4167	1175	41	3		3	DDX46	5	134795003	Missense_Mutation	SNP	G	C3N-00294_TP	259139	134795003	46743256	445	13947											
APBB3	0	.	GRCh38	chr5	140560501	140560501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctcctctgtactggcctCtgcctgcccacaccaggcct	4	10	7	20	0	2	0	0	0	2	0	4	0	4	0	7	2	3	1	7	2	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1057G>A	p.Glu353Lys	p.E353K	ENST00000354402	12/13	77	61	16	87	87	0	strelka-varscan-mutect	APBB3,missense_variant,p.Glu346Lys,ENST00000357560,NM_133173.2;APBB3,missense_variant,p.Arg307Lys,ENST00000358580,;APBB3,missense_variant,p.Glu353Lys,ENST00000354402,NM_006051.3;APBB3,missense_variant,p.Glu351Lys,ENST00000356738,NM_133172.2;APBB3,missense_variant,p.Glu344Lys,ENST00000412920,NM_133174.2;APBB3,missense_variant,p.Arg305Lys,ENST00000511201,;SLC35A4,upstream_gene_variant,,ENST00000514199,;SLC35A4,upstream_gene_variant,,ENST00000323146,NM_080670.3;SLC35A4,upstream_gene_variant,,ENST00000612662,;SRA1,upstream_gene_variant,,ENST00000336283,NM_001035235.3;SLC35A4,upstream_gene_variant,,ENST00000623481,;APBB3,downstream_gene_variant,,ENST00000617240,;SRA1,upstream_gene_variant,,ENST00000520427,;AC011380.9,downstream_gene_variant,,ENST00000507279,;APBB3,downstream_gene_variant,,ENST00000505617,;AC011380.9,downstream_gene_variant,,ENST00000513766,;APBB3,3_prime_UTR_variant,,ENST00000511896,;APBB3,3_prime_UTR_variant,,ENST00000509914,;APBB3,3_prime_UTR_variant,,ENST00000467078,;APBB3,non_coding_transcript_exon_variant,,ENST00000510241,;APBB3,non_coding_transcript_exon_variant,,ENST00000515056,;SRA1,upstream_gene_variant,,ENST00000523259,;SRA1,upstream_gene_variant,,ENST00000602775,;APBB3,downstream_gene_variant,,ENST00000506958,;APBB3,downstream_gene_variant,,ENST00000506289,;APBB3,downstream_gene_variant,,ENST00000503979,;SRA1,upstream_gene_variant,,ENST00000602875,;APBB3,downstream_gene_variant,,ENST00000513507,;APBB3,downstream_gene_variant,,ENST00000503850,;APBB3,downstream_gene_variant,,ENST00000511463,;APBB3,downstream_gene_variant,,ENST00000506165,;APBB3,downstream_gene_variant,,ENST00000511459,;APBB3,downstream_gene_variant,,ENST00000504872,;	T	ENST00000354402	Transcript	missense_variant	1072/1810	1057/1482	353/493	E/K	Gag/Aag		1		-1	APBB3	HGNC	HGNC:20708	protein_coding	YES	CCDS4227.1	ENSP00000346378	O95704		UPI0000414594	NM_006051.3	tolerated(0.42)		12/13		Gene3D:2.30.29.30,PROSITE_profiles:PS01179,hmmpanther:PTHR14058,hmmpanther:PTHR14058:SF10,SMART_domains:SM00462,Superfamily_domains:SSF50729																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	46	140560501	140560501	C	T	1	0	0	0	0	1	0	0	0	882	927	32	3		3	APBB3	5	140560501	Missense_Mutation	SNP	C	C3N-00294_TP	5765498	140560501	40977758	446	13948											
CD14	0	.	GRCh38	chr5	140631896	140631896	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttggagcagcaccagggttCccgacacccccaccgacagg	9	4	11	17	2	0	0	0	0	0	0	1	3	1	1	5	3	2	3	5	3	0	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1088G>C	p.Gly363Ala	p.G363A	ENST00000302014	2/2	33	24	9	35	35	0	strelka-varscan-mutect	CD14,missense_variant,p.Gly363Ala,ENST00000302014,NM_000591.3;CD14,missense_variant,p.Gly363Ala,ENST00000401743,NM_001040021.2,NM_001174105.1,NM_001174104.1;CD14,downstream_gene_variant,,ENST00000498971,;CD14,downstream_gene_variant,,ENST00000512545,;CD14,downstream_gene_variant,,ENST00000519715,;	G	ENST00000302014	Transcript	missense_variant	1718/1886	1088/1128	363/375	G/A	gGa/gCa		1		-1	CD14	HGNC	HGNC:1628	protein_coding	YES	CCDS4232.1	ENSP00000304236	P08571		UPI000004A918	NM_000591.3	deleterious(0.05)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR10630,PIRSF_domain:PIRSF002017																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	140631896	140631896	C	G	1	0	0	0	0	1	0	0	0	2667	855	30	4		4	CD14	5	140631896	Missense_Mutation	SNP	C	C3N-00294_TP	71395	140631896	40906363	447	13949											
CD14	0	.	GRCh38	chr5	140632085	140632085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagctgagatcgagcactCtgagcttggctggcagtcct	7	10	13	11	1	1	2	0	2	1	1	3	4	2	2	1	2	4	6	1	2	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.899G>C	p.Arg300Thr	p.R300T	ENST00000302014	2/2	192	165	27	220	220	0	strelka-varscan-mutect	CD14,missense_variant,p.Arg300Thr,ENST00000302014,NM_000591.3;CD14,missense_variant,p.Arg300Thr,ENST00000401743,NM_001040021.2,NM_001174105.1,NM_001174104.1;CD14,downstream_gene_variant,,ENST00000498971,;CD14,downstream_gene_variant,,ENST00000512545,;CD14,downstream_gene_variant,,ENST00000519715,;	G	ENST00000302014	Transcript	missense_variant	1529/1886	899/1128	300/375	R/T	aGa/aCa		1		-1	CD14	HGNC	HGNC:1628	protein_coding	YES	CCDS4232.1	ENSP00000304236	P08571		UPI000004A918	NM_000591.3	tolerated(0.14)		2/2		PROSITE_profiles:PS51450,hmmpanther:PTHR10630,Gene3D:3.80.10.10,PIRSF_domain:PIRSF002017,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	140632085	140632085	C	G	1	0	0	0	0	1	0	0	0	2667	913	32	4		4	CD14	5	140632085	Missense_Mutation	SNP	C	C3N-00294_TP	189	140632085	40906174	448	13950											
PCDHA1	0	.	GRCh38	chr5	140786803	140786803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgctcttctaacgtacacGctcagcccgagtgattattt	10	12	7	12	4	3	1	1	1	2	0	3	2	3	1	1	0	4	3	1	0	4	5	rs781835560		C3N-00294_TP	C3N-00294_NB	G	G																c.513G>A	p.=	p.T171T	ENST00000504120	1/4	87	56	31	101	101	0	strelka-varscan-mutect	PCDHA1,synonymous_variant,p.=,ENST00000504120,NM_018900.3;PCDHA1,synonymous_variant,p.=,ENST00000378133,NM_031410.2;PCDHA1,synonymous_variant,p.=,ENST00000394633,NM_031411.2;AC005609.16,downstream_gene_variant,,ENST00000624712,;AC005609.16,downstream_gene_variant,,ENST00000624176,;	A	ENST00000504120	Transcript	synonymous_variant	513/5263	513/2853	171/950	T	acG/acA	rs781835560,COSM5457157,COSM5457158	1		1	PCDHA1	HGNC	HGNC:8663	protein_coding	YES	CCDS54913.1	ENSP00000420840	Q9Y5I3		UPI00001273C7	NM_018900.3			1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs781835560	.												A	2	1	46	140786803	140786803	G	A	1	0	0	0	0	0	0	0	1	11606	1074	38	1		1	PCDHA1	5	140786803	Silent	SNP	G	C3N-00294_TP	154718	140786803	40751456	449	13951											
PCDHA1	0	.	GRCh38	chr5	140787323	140787323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaagtgctggatgtaaatGataatgctccagaactggcg	13	10	12	6	1	0	3	0	2	0	1	1	4	1	4	1	2	3	3	1	2	5	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1033G>A	p.Asp345Asn	p.D345N	ENST00000504120	1/4	106	84	22	119	119	0	strelka-varscan-mutect	PCDHA1,missense_variant,p.Asp345Asn,ENST00000504120,NM_018900.3;PCDHA1,missense_variant,p.Asp345Asn,ENST00000378133,NM_031410.2;PCDHA1,missense_variant,p.Asp345Asn,ENST00000394633,NM_031411.2;AC005609.16,downstream_gene_variant,,ENST00000624712,;AC005609.16,downstream_gene_variant,,ENST00000624176,;	A	ENST00000504120	Transcript	missense_variant	1033/5263	1033/2853	345/950	D/N	Gat/Aat		1		1	PCDHA1	HGNC	HGNC:8663	protein_coding	YES	CCDS54913.1	ENSP00000420840	Q9Y5I3		UPI00001273C7	NM_018900.3	deleterious_low_confidence(0)		1/4		Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	140787323	140787323	G	A	1	0	0	0	0	1	0	0	0	11606	1290	45	3		3	PCDHA1	5	140787323	Missense_Mutation	SNP	G	C3N-00294_TP	520	140787323	40750936	450	13952											
PCDHB2	0	.	GRCh38	chr5	141095560	141095560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagatcccggaggacaGccccgttggatcccaggttg	7	7	15	12	2	0	1	0	0	0	1	2	4	2	4	4	5	2	3	4	5	0	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.770G>T	p.Ser257Ile	p.S257I	ENST00000194155	1/1	126	71	55	106	106	0	strelka-varscan-mutect	PCDHB2,missense_variant,p.Ser257Ile,ENST00000194155,NM_018936.3;PCDHB2,3_prime_UTR_variant,,ENST00000622947,;PCDHB2,3_prime_UTR_variant,,ENST00000624874,;PCDHB2,3_prime_UTR_variant,,ENST00000625033,;PCDHB3,upstream_gene_variant,,ENST00000231130,NM_018937.4;PCDHB2,upstream_gene_variant,,ENST00000624994,;CTC-270D5.1,intron_variant,,ENST00000623741,;AC005754.7,downstream_gene_variant,,ENST00000607216,;CTC-270D5.1,downstream_gene_variant,,ENST00000623615,;AC005754.7,downstream_gene_variant,,ENST00000625128,;AC005754.7,downstream_gene_variant,,ENST00000625066,;	T	ENST00000194155	Transcript	missense_variant	983/4126	770/2397	257/798	S/I	aGc/aTc		1		1	PCDHB2	HGNC	HGNC:8687	protein_coding	YES	CCDS4244.1	ENSP00000194155	Q9Y5E7		UPI00001273DC	NM_018936.3	deleterious_low_confidence(0.01)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												T	3	4	46	141095560	141095560	G	T	1	0	0	0	0	1	0	0	0	11629	971	34	2		2	PCDHB2	5	141095560	Missense_Mutation	SNP	G	C3N-00294_TP	308237	141095560	40442699	451	13953											
PCDHGB7	0	.	GRCh38	chr5	141418070	141418070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcgagctgcgagtgagcgcgGagaagctgcacttcagcgta	9	6	16	10	5	1	2	1	1	0	1	1	5	1	2	0	1	6	4	0	1	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.211G>A	p.Glu71Lys	p.E71K	ENST00000398594	1/4	310	234	76	297	297	0	strelka-varscan-mutect	PCDHGB7,missense_variant,p.Glu71Lys,ENST00000398594,NM_018927.3;PCDHGB7,missense_variant,p.Glu71Lys,ENST00000612073,NM_032101.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGA11,upstream_gene_variant,,ENST00000398587,NM_018914.2;PCDHGA10,downstream_gene_variant,,ENST00000612503,NM_032090.1;PCDHGA11,upstream_gene_variant,,ENST00000622044,NM_032091.1;PCDHGA11,upstream_gene_variant,,ENST00000518882,NM_032092.1;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000398594	Transcript	missense_variant	380/4765	211/2790	71/929	E/K	Gag/Aag		1		1	PCDHGB7	HGNC	HGNC:8714	protein_coding	YES	CCDS47293.1	ENSP00000381594	Q9Y5F8		UPI000007141F	NM_018927.3	tolerated(0.18)		1/4		hmmpanther:PTHR24028:SF113,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF08266,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	141418070	141418070	G	A	1	0	0	0	0	1	0	0	0	11655	1175	41	3		3	PCDHGB7	5	141418070	Missense_Mutation	SNP	G	C3N-00294_TP	322510	141418070	40120189	452	13954											
PCDHGC3	0	.	GRCh38	chr5	141476552	141476552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgaaattggagattagcGaggccgtggctccggggacg	11	7	16	7	4	0	2	0	1	0	1	1	5	1	3	2	5	1	1	2	5	3	2			C3N-00294_TP	C3N-00294_NB	G	G																c.436G>A	p.Glu146Lys	p.E146K	ENST00000308177	1/4	304	231	73	335	335	0	strelka-varscan-mutect	PCDHGC3,missense_variant,p.Glu146Lys,ENST00000308177,NM_002588.3;PCDHGC3,missense_variant,p.Glu146Lys,ENST00000611950,NM_032402.1;PCDHGC3,missense_variant,p.Glu18Lys,ENST00000621008,;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB7,intron_variant,,ENST00000398594,NM_018927.3;PCDHGA12,intron_variant,,ENST00000252085,NM_003735.2;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA11,intron_variant,,ENST00000398587,NM_018914.2;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGC3,intron_variant,,ENST00000617641,NM_032403.2;PCDHGA11,intron_variant,,ENST00000518882,NM_032092.1;PCDHGC3,intron_variant,,ENST00000617222,;RN7SL68P,upstream_gene_variant,,ENST00000488078,;PCDHGC3,intron_variant,,ENST00000616230,;PCDHGC3,intron_variant,,ENST00000622656,;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000308177	Transcript	missense_variant	550/4725	436/2805	146/934	E/K	Gag/Aag	COSM1542497,COSM1542498	1		1	PCDHGC3	HGNC	HGNC:8716	protein_coding	YES	CCDS4261.1	ENSP00000312070	Q9UN70		UPI000006F34F	NM_002588.3	deleterious(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF70,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1452697214	.												A	3	1	46	141476552	141476552	G	A	1	0	0	0	0	1	0	0	0	11656	1059	37	1		1	PCDHGC3	5	141476552	Missense_Mutation	SNP	G	C3N-00294_TP	58482	141476552	40061707	453	13955											
PCDH1	0	.	GRCh38	chr5	141864382	141864382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccgttgtcctgctccactGagagctgcacctgggcattc	6	10	10	15	1	0	1	0	1	0	1	3	2	2	1	4	1	3	5	4	1	0	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1949C>T	p.Ser650Leu	p.S650L	ENST00000287008	3/5	101	81	20	119	119	0	strelka-varscan-mutect	PCDH1,missense_variant,p.Ser650Leu,ENST00000287008,NM_032420.3;PCDH1,missense_variant,p.Ser650Leu,ENST00000394536,NM_001278613.1,NM_002587.4;PCDH1,3_prime_UTR_variant,,ENST00000515351,;PCDH1,intron_variant,,ENST00000503492,;PCDH1,downstream_gene_variant,,ENST00000514773,;PCDH1,non_coding_transcript_exon_variant,,ENST00000357517,;PCDH1,non_coding_transcript_exon_variant,,ENST00000511044,;PCDH1,downstream_gene_variant,,ENST00000505937,;	A	ENST00000287008	Transcript	missense_variant	2097/4793	1949/3714	650/1237	S/L	tCa/tTa		1		-1	PCDH1	HGNC	HGNC:8655	protein_coding	YES	CCDS4267.1	ENSP00000287008	Q08174		UPI000016158F	NM_032420.3	tolerated(0.17)		3/5		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF326,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	141864382	141864382	G	A	1	0	0	0	0	1	0	0	0	11593	1294	45	3		3	PCDH1	5	141864382	Missense_Mutation	SNP	G	C3N-00294_TP	387830	141864382	39673877	454	13956											
PRELID2	0	.	GRCh38	chr5	145796459	145796459	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccttctgggctccctgtcGtaagaatgtgctggcaaaag	9	11	11	10	1	1	1	0	0	1	1	3	1	2	1	2	2	2	4	2	2	5	3	rs375685870		C3N-00294_TP	C3N-00294_NB	G	G																c.493C>T	p.Arg165Ter	p.R165*	ENST00000334744	6/8	175	136	39	210	210	0	strelka-varscan-mutect	PRELID2,stop_gained,p.Arg165Ter,ENST00000334744,NM_182960.3;PRELID2,stop_gained,p.Arg153Ter,ENST00000511435,;PRELID2,stop_gained,p.Arg124Ter,ENST00000394450,NM_138492.5;PRELID2,stop_gained,p.Arg153Ter,ENST00000505416,NM_205846.2;PRELID2,non_coding_transcript_exon_variant,,ENST00000510594,;	A	ENST00000334744	Transcript	stop_gained	546/2140	493/570	165/189	R/*	Cga/Tga	rs375685870,COSM241243	1		-1	PRELID2	HGNC	HGNC:28306	protein_coding	YES	CCDS34262.1	ENSP00000335675	Q8N945		UPI000006FB14	NM_182960.3			6/8		PROSITE_profiles:PS50904,hmmpanther:PTHR11158:SF20,hmmpanther:PTHR11158,Pfam_domain:PF04707											0,1						HIGH	1	SNV	2		0,1	1										PASS		rs375685870	.												A	4	1	46	145796459	145796459	G	A	1	0	0	0	0	0	1	0	0	12604	1153	40	1		1	PRELID2	5	145796459	Nonsense_Mutation	SNP	G	C3N-00294_TP	3932077	145796459	35741800	455	13957											
SYNPO	0	.	GRCh38	chr5	150649263	150649263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccttgtccacagcccctCtggcttcctgggtgaggtct	5	11	11	14	0	2	2	0	1	2	1	4	2	4	2	5	3	1	1	5	3	0	2			C3N-00294_TP	C3N-00294_NB	C	C																c.1720C>G	p.Leu574Val	p.L574V	ENST00000394243	3/3	218	162	56	201	201	0	strelka-varscan-mutect	SYNPO,missense_variant,p.Leu574Val,ENST00000394243,NM_001166208.1;SYNPO,missense_variant,p.Leu330Val,ENST00000307662,NM_007286.5;SYNPO,missense_variant,p.Leu574Val,ENST00000522122,NM_001166209.1;SYNPO,missense_variant,p.Leu330Val,ENST00000519664,NM_001109974.2;SYNPO,downstream_gene_variant,,ENST00000518872,;	G	ENST00000394243	Transcript	missense_variant	2094/7063	1720/2790	574/929	L/V	Ctg/Gtg	COSM5639091,COSM5639092	1		1	SYNPO	HGNC	HGNC:30672	protein_coding	YES	CCDS54937.1	ENSP00000377789	Q8N3V7		UPI000013F943	NM_001166208.1	tolerated(0.54)		3/3		hmmpanther:PTHR24217,hmmpanther:PTHR24217:SF13											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	46	150649263	150649263	C	G	1	0	0	0	0	1	0	0	0	15850	912	32	4		4	SYNPO	5	150649263	Missense_Mutation	SNP	C	C3N-00294_TP	4852804	150649263	30888996	456	13958											
SLC36A3	0	.	GRCh38	chr5	151296182	151296182	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaagcaggcctctgacctCtggctgaggtgttgagcaca	9	8	14	10	0	2	4	0	3	2	1	2	5	2	4	2	3	2	4	2	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.306G>C	p.Gln102His	p.Q102H	ENST00000377713	3/11	233	201	32	334	334	0	strelka-varscan-mutect	SLC36A3,missense_variant,p.Gln102His,ENST00000335230,NM_181774.3;SLC36A3,missense_variant,p.Gln102His,ENST00000377713,NM_001145017.1;SLC36A3,splice_region_variant,,ENST00000423071,;	G	ENST00000377713	Transcript	missense_variant,splice_region_variant	448/1720	306/1536	102/511	Q/H	caG/caC		1		-1	SLC36A3	HGNC	HGNC:19659	protein_coding	YES	CCDS47316.1	ENSP00000366942	Q495N2		UPI00005764D3	NM_001145017.1	tolerated(0.5)		3/11		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF258																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	151296182	151296182	C	G	1	0	0	0	0	1	0	0	0	14873	927	32	4		4	SLC36A3	5	151296182	Missense_Mutation	SNP	C	C3N-00294_TP	646919	151296182	30242077	457	13959											
NMUR2	0	.	GRCh38	chr5	152392241	152392241	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgttcttgacatctgttCactagagagggctgctggga	7	14	13	7	0	3	2	1	1	2	1	3	4	3	3	0	2	1	5	0	2	1	5	rs867657626		C3N-00294_TP	C3N-00294_NB	C	C																c.1198G>T	p.Glu400Ter	p.E400*	ENST00000255262	4/4	130	99	31	172	172	0	strelka-varscan-mutect	NMUR2,stop_gained,p.Glu400Ter,ENST00000255262,NM_020167.4;NMUR2,downstream_gene_variant,,ENST00000518933,;	A	ENST00000255262	Transcript	stop_gained	1364/2073	1198/1248	400/415	E/*	Gaa/Taa	rs867657626,COSM3245179	1		-1	NMUR2	HGNC	HGNC:16454	protein_coding	YES	CCDS4321.1	ENSP00000255262	Q9GZQ4		UPI000013CE9D	NM_020167.4			4/4		hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF14											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs867657626	.												A	4	1	46	152392241	152392241	C	A	1	0	0	0	0	0	1	0	0	10548	835	29	2		2	NMUR2	5	152392241	Nonsense_Mutation	SNP	C	C3N-00294_TP	1096059	152392241	29146018	458	13960											
GEMIN5	0	.	GRCh38	chr5	154938073	154938073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcccccgggcacggcatCgctgcagcgggcgcagtacc	6	3	16	16	5	0	0	0	0	0	0	1	1	0	0	3	4	3	6	3	4	1	1			C3N-00294_TP	C3N-00294_NB	C	C																c.61G>A	p.Asp21Asn	p.D21N	ENST00000285873	1/28	42	34	8	44	44	0	strelka-varscan-mutect	GEMIN5,missense_variant,p.Asp21Asn,ENST00000285873,NM_001252156.1,NM_015465.4;MRPL22,upstream_gene_variant,,ENST00000523037,NM_014180.3;MRPL22,upstream_gene_variant,,ENST00000522038,;MRPL22,upstream_gene_variant,,ENST00000265229,NM_001014990.2;MRPL22,upstream_gene_variant,,ENST00000439747,;MRPL22,upstream_gene_variant,,ENST00000519059,;	T	ENST00000285873	Transcript	missense_variant	137/5397	61/4527	21/1508	D/N	Gat/Aat	COSM3381169	1		-1	GEMIN5	HGNC	HGNC:20043	protein_coding	YES	CCDS4330.1	ENSP00000285873	Q8TEQ6		UPI000020D072	NM_001252156.1,NM_015465.4	deleterious(0.01)		1/28		hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF89											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	46	154938073	154938073	C	T	1	0	0	0	0	1	0	0	0	6205	884	31	1		1	GEMIN5	5	154938073	Missense_Mutation	SNP	C	C3N-00294_TP	2545832	154938073	26600186	459	13961											
ITK	0	.	GRCh38	chr5	157244466	157244466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggaagaggcatgtgtcatCcacagagacttggtatgagc	11	9	13	8	0	1	3	1	1	0	2	2	5	2	4	1	3	1	2	1	3	2	2	rs756176085		C3N-00294_TP	C3N-00294_NB	C	C																c.1437C>T	p.=	p.I479I	ENST00000422843	13/17	330	262	68	353	353	0	strelka-varscan-mutect	ITK,synonymous_variant,p.=,ENST00000422843,NM_005546.3;ITK,non_coding_transcript_exon_variant,,ENST00000519749,;ITK,non_coding_transcript_exon_variant,,ENST00000519402,;ITK,upstream_gene_variant,,ENST00000523926,;ITK,downstream_gene_variant,,ENST00000520173,;ITK,downstream_gene_variant,,ENST00000519759,;	T	ENST00000422843	Transcript	synonymous_variant	1589/4528	1437/1863	479/620	I	atC/atT	rs756176085	1		1	ITK	HGNC	HGNC:6171	protein_coding	YES	CCDS4336.1	ENSP00000398655	Q08881		UPI000004CADA	NM_005546.3			13/17		PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF61,hmmpanther:PTHR24418,PROSITE_patterns:PS00109,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109																	LOW	1	SNV	1			1										PASS		rs756176085	.												T	2	4	46	157244466	157244466	C	T	1	0	0	0	0	0	0	0	1	7815	845	30	3		3	ITK	5	157244466	Silent	SNP	C	C3N-00294_TP	2306393	157244466	24293793	460	13962											
GABRA1	0	.	GRCh38	chr5	161897201	161897201	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaatttggccaggggcgacCcgggcttagccaccattgct	7	9	12	13	2	0	0	0	0	0	0	0	1	0	0	4	4	2	2	4	4	2	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1150C>A	p.Pro384Thr	p.P384T	ENST00000393943	10/10	202	122	80	199	199	0	strelka-varscan-mutect	GABRA1,missense_variant,p.Pro384Thr,ENST00000393943,NM_001127644.1,NM_001127648.1;GABRA1,missense_variant,p.Pro384Thr,ENST00000428797,NM_001127643.1;GABRA1,missense_variant,p.Pro399Thr,ENST00000638159,;GABRA1,missense_variant,p.Pro384Thr,ENST00000437025,NM_001127645.1;GABRA1,missense_variant,p.Pro384Thr,ENST00000638112,;GABRA1,missense_variant,p.Pro384Thr,ENST00000636573,;GABRA1,missense_variant,p.Pro384Thr,ENST00000023897,NM_000806.5;GABRA1,missense_variant,p.Pro384Thr,ENST00000637827,;GABRA1,missense_variant,p.Pro384Thr,ENST00000635880,;GABRA1,non_coding_transcript_exon_variant,,ENST00000636408,;GABRA1,3_prime_UTR_variant,,ENST00000637044,;GABRA1,3_prime_UTR_variant,,ENST00000636340,;	A	ENST00000393943	Transcript	missense_variant	1933/4686	1150/1371	384/456	P/T	Ccg/Acg		1		1	GABRA1	HGNC	HGNC:4075	protein_coding	YES	CCDS4357.1	ENSP00000377517	P14867		UPI000012AF95	NM_001127644.1,NM_001127648.1	tolerated(0.17)		10/10		Prints_domain:PR01614,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF514,Superfamily_domains:SSF90112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	161897201	161897201	C	A	1	0	0	0	0	1	0	0	0	6031	623	22	2		2	GABRA1	5	161897201	Missense_Mutation	SNP	C	C3N-00294_TP	4652735	161897201	19641058	461	13963											
TENM2	0	.	GRCh38	chr5	168262325	168262325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaagatgcactacagcatcGagggcaaggacacccactac	15	4	9	13	1	0	1	0	0	0	1	1	3	0	2	1	2	4	3	1	2	4	2	rs781581501		C3N-00294_TP	C3N-00294_NB	G	G																c.7840G>A	p.Glu2614Lys	p.E2614K	ENST00000518659	29/29	170	134	36	204	204	0	strelka-varscan-mutect	TENM2,missense_variant,p.Glu2493Lys,ENST00000519204,;TENM2,missense_variant,p.Glu2614Lys,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Glu2375Lys,ENST00000520394,;	A	ENST00000518659	Transcript	missense_variant	7879/8550	7840/8325	2614/2774	E/K	Gag/Aag	rs781581501,COSM1065588,COSM1065589,COSM1595190	1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1	deleterious(0.04)		29/29		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8											0,1,1,1						MODERATE	1	SNV	5		0,1,1,1	1										PASS		rs781581501	.												A	3	1	46	168262325	168262325	G	A	1	0	0	0	0	1	0	0	0	16172	1059	37	1		1	TENM2	5	168262325	Missense_Mutation	SNP	G	C3N-00294_TP	6365124	168262325	13275934	462	13964											
FGF18	0	.	GRCh38	chr5	171436153	171436153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagaaccagacgcgggctCgggacgatgtgagccgtaag	10	5	17	9	5	0	3	0	1	0	2	1	6	0	4	2	3	2	2	2	3	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.130C>T	p.Arg44Trp	p.R44W	ENST00000274625	3/5	92	73	19	138	138	0	strelka-varscan-mutect	FGF18,missense_variant,p.Arg44Trp,ENST00000274625,NM_003862.2;	T	ENST00000274625	Transcript	missense_variant	674/1986	130/624	44/207	R/W	Cgg/Tgg		1		1	FGF18	HGNC	HGNC:3674	protein_coding	YES	CCDS4378.1	ENSP00000274625	O76093		UPI000003C116	NM_003862.2	deleterious(0.02)		3/5		Gene3D:2.80.10.50,hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF4,Superfamily_domains:SSF50353																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	171436153	171436153	C	T	1	0	0	0	0	1	0	0	0	5710	875	31	1		1	FGF18	5	171436153	Missense_Mutation	SNP	C	C3N-00294_TP	3173828	171436153	10102106	463	13965											
CREBRF	0	.	GRCh38	chr5	173110711	173110711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaataagctggcttccaGgtaaatgctaataatgttca	17	11	7	6	0	1	0	1	0	0	0	2	0	2	0	1	2	2	5	1	2	8	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1607G>A	p.Arg536Lys	p.R536K	ENST00000296953	6/9	71	34	37	61	61	0	strelka-varscan-mutect	CREBRF,missense_variant,p.Arg536Lys,ENST00000296953,NM_153607.2;CREBRF,splice_region_variant,,ENST00000520464,;	A	ENST00000296953	Transcript	missense_variant,splice_region_variant	1926/7778	1607/1920	536/639	R/K	aGa/aAa		1		1	CREBRF	HGNC	HGNC:24050	protein_coding	YES	CCDS34293.1	ENSP00000296953	Q8IUR6		UPI000049E01D	NM_153607.2	deleterious(0.04)		6/9		hmmpanther:PTHR21552,PROSITE_patterns:PS00036,Gene3D:1.20.5.170,Superfamily_domains:SSF57959																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	173110711	173110711	G	A	1	0	0	0	0	1	0	0	0	3663	1014	35	3		3	CREBRF	5	173110711	Missense_Mutation	SNP	G	C3N-00294_TP	1674558	173110711	8427548	464	13966											
DRD1	0	.	GRCh38	chr5	175442559	175442559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcacagttgtctatggtctCagccagggaagtggcatttc	8	12	12	9	0	3	0	2	0	2	0	5	1	3	1	1	3	1	2	1	3	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.541G>A	p.Glu181Lys	p.E181K	ENST00000393752	2/2	153	121	32	165	165	0	strelka-varscan-mutect	DRD1,missense_variant,p.Glu181Lys,ENST00000393752,NM_000794.3;	T	ENST00000393752	Transcript	missense_variant	1534/4054	541/1341	181/446	E/K	Gag/Aag		1		-1	DRD1	HGNC	HGNC:3020	protein_coding	YES	CCDS4393.1	ENSP00000377353	P21728		UPI00000503F5	NM_000794.3	tolerated(0.85)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF221,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	46	175442559	175442559	C	T	1	0	0	0	0	1	0	0	0	4575	835	29	3		3	DRD1	5	175442559	Missense_Mutation	SNP	C	C3N-00294_TP	2331848	175442559	6095700	465	13967											
UIMC1	0	.	GRCh38	chr5	176970840	176970840	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcactcattttgagagccaGagcaaactgttcttcttctg	9	14	7	11	0	5	2	2	1	3	2	5	3	5	2	1	0	3	2	1	0	1	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.259C>G	p.Leu87Val	p.L87V	ENST00000377227	4/15	240	200	40	178	178	0	strelka-varscan-mutect	UIMC1,missense_variant,p.Leu87Val,ENST00000377227,NM_016290.4;UIMC1,missense_variant,p.Leu87Val,ENST00000511320,NM_001199297.1,NM_001199298.1;UIMC1,missense_variant,p.Leu87Val,ENST00000506128,;UIMC1,missense_variant,p.Leu87Val,ENST00000509236,;UIMC1,missense_variant,p.Leu87Val,ENST00000507513,;UIMC1,upstream_gene_variant,,ENST00000510698,;UIMC1,upstream_gene_variant,,ENST00000503273,;UIMC1,downstream_gene_variant,,ENST00000505879,;UIMC1,missense_variant,p.Leu87Val,ENST00000512031,;UIMC1,non_coding_transcript_exon_variant,,ENST00000417486,;UIMC1,non_coding_transcript_exon_variant,,ENST00000515488,;	C	ENST00000377227	Transcript	missense_variant	392/2570	259/2160	87/719	L/V	Ctg/Gtg		1		-1	UIMC1	HGNC	HGNC:30298	protein_coding	YES	CCDS4408.1	ENSP00000366434	Q96RL1	A0A024R7R0	UPI00001A9954	NM_016290.4	deleterious(0)		4/15		PROSITE_profiles:PS50330,hmmpanther:PTHR15932,hmmpanther:PTHR15932:SF2,SMART_domains:SM00726																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	176970840	176970840	G	C	1	0	0	0	0	1	0	0	0	17495	933	33	4		4	UIMC1	5	176970840	Missense_Mutation	SNP	G	C3N-00294_TP	1528281	176970840	4567419	466	13968											
FAM193B	0	.	GRCh38	chr5	177524614	177524614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggacacaggctcaggcagctCctgcttgcaactgggaactt	9	8	12	12	0	1	0	1	0	0	0	2	2	2	2	1	4	5	5	1	4	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1867G>A	p.Glu623Lys	p.E623K	ENST00000514747	6/9	111	94	17	81	81	0	strelka-varscan-mutect	FAM193B,missense_variant,p.Glu623Lys,ENST00000514747,NM_001190946.1;FAM193B,missense_variant,p.Glu309Lys,ENST00000524677,;FAM193B,downstream_gene_variant,,ENST00000508298,;FAM193B,upstream_gene_variant,,ENST00000505241,;FAM193B,upstream_gene_variant,,ENST00000504130,;FAM193B,3_prime_UTR_variant,,ENST00000506955,;FAM193B,3_prime_UTR_variant,,ENST00000510479,;FAM193B,3_prime_UTR_variant,,ENST00000510163,;FAM193B,non_coding_transcript_exon_variant,,ENST00000505569,;FAM193B,upstream_gene_variant,,ENST00000507212,;FAM193B,downstream_gene_variant,,ENST00000513502,;FAM193B,upstream_gene_variant,,ENST00000513282,;FAM193B,upstream_gene_variant,,ENST00000506879,;	T	ENST00000514747	Transcript	missense_variant	1916/2913	1867/2469	623/822	E/K	Gag/Aag		1		-1	FAM193B	HGNC	HGNC:25524	protein_coding	YES	CCDS54954.1	ENSP00000422131	Q96PV7		UPI0001D3BB6A	NM_001190946.1	deleterious(0.01)		6/9		hmmpanther:PTHR15109,hmmpanther:PTHR15109:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	177524614	177524614	C	T	1	0	0	0	0	1	0	0	0	5372	864	30	3		3	FAM193B	5	177524614	Missense_Mutation	SNP	C	C3N-00294_TP	553774	177524614	4013645	467	13969											
GRM6	0	.	GRCh38	chr5	178986257	178986257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtcttggtgagcagggcaGagtagctgagggtcgtgccc	6	9	18	8	1	1	3	0	2	1	1	2	3	1	3	1	4	3	4	1	4	1	2	rs2856347		C3N-00294_TP	C3N-00294_NB	G	G																c.1997C>G	p.Ser666Cys	p.S666C	ENST00000231188	8/10	332	282	50	308	308	0	strelka-varscan-mutect	GRM6,missense_variant,p.Ser666Cys,ENST00000231188,NM_000843.3;GRM6,missense_variant,p.Ser666Cys,ENST00000517717,;RP11-281O15.4,intron_variant,,ENST00000519491,;GRM6,downstream_gene_variant,,ENST00000518082,;GRM6,upstream_gene_variant,,ENST00000519003,;	C	ENST00000231188	Transcript	missense_variant	2176/6143	1997/2634	666/877	S/C	tCt/tGt	rs2856347	1		-1	GRM6	HGNC	HGNC:4598	protein_coding	YES	CCDS4442.1	ENSP00000231188	O15303		UPI000013C947	NM_000843.3	deleterious(0)		8/10		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF24,Pfam_domain:PF00003,Prints_domain:PR00593,Prints_domain:PR00248																	MODERATE	1	SNV	2			1										PASS		rs2856347	.												C	3	2	46	178986257	178986257	G	C	1	0	0	0	0	1	0	0	0	6683	942	33	4		4	GRM6	5	178986257	Missense_Mutation	SNP	G	C3N-00294_TP	1461643	178986257	2552002	468	13970											
ZNF879	0	.	GRCh38	chr5	179027570	179027570	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtaccgggaggtgatgcTggagaactacagcatcctgg	9	9	14	9	1	0	2	0	1	0	1	1	4	1	3	2	4	5	3	2	4	3	3	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.131T>C	p.Leu44Pro	p.L44P	ENST00000444149	3/5	270	223	47	209	209	0	strelka-varscan-mutect	ZNF879,missense_variant,p.Leu44Pro,ENST00000444149,NM_001136116.1;ZNF879,missense_variant,p.Leu44Pro,ENST00000522442,;ZNF879,synonymous_variant,p.=,ENST00000519896,;ZNF879,downstream_gene_variant,,ENST00000521285,;	C	ENST00000444149	Transcript	missense_variant	319/3304	131/1692	44/563	L/P	cTg/cCg		1		1	ZNF879	HGNC	HGNC:37273	protein_coding	YES	CCDS47352.1	ENSP00000414887	B4DU55		UPI000022C878	NM_001136116.1	deleterious(0)		3/5		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF33,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	179027570	179027570	T	C	1	0	0	0	0	1	0	0	0	18788	1580	55	5		5	ZNF879	5	179027570	Missense_Mutation	SNP	T	C3N-00294_TP	41313	179027570	2510689	469	13971											
ADAMTS2	0	.	GRCh38	chr5	179151193	179151193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcatgagccaccgcgcccGgcctgaactgtgtaaagtgg	9	6	14	12	3	0	2	0	2	0	0	0	2	0	2	4	3	2	2	4	3	3	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1637C>A	p.Pro546Gln	p.P546Q	ENST00000274609	11/11	44	33	11	32	32	0	strelka-varscan-mutect	ADAMTS2,missense_variant,p.Pro546Gln,ENST00000274609,NM_021599.2;ADAMTS2,intron_variant,,ENST00000251582,NM_014244.4;	T	ENST00000274609	Transcript	missense_variant	1739/2044	1637/1701	546/566	P/Q	cCg/cAg		1		-1	ADAMTS2	HGNC	HGNC:218	protein_coding		CCDS34311.1	ENSP00000274609	O95450		UPI000002A492	NM_021599.2	tolerated(0.15)		11/11																			MODERATE		SNV	1			1										PASS		rs1021616634	.												T	3	4	46	179151193	179151193	G	T	1	0	0	0	0	1	0	0	0	309	1116	39	1		1	ADAMTS2	5	179151193	Missense_Mutation	SNP	G	C3N-00294_TP	123623	179151193	2387066	470	13972											
MAML1	0	.	GRCh38	chr5	179773980	179773980	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccctcaggctgggaatctGatgccaatgggccctggaca	8	9	12	12	0	2	1	1	1	1	0	3	3	3	3	3	4	1	1	3	4	2	1	rs756817768		C3N-00294_TP	C3N-00294_NB	G	G																c.2154G>A	p.=	p.L718L	ENST00000292599	5/5	441	377	64	278	277	1	strelka-varscan-mutect	MAML1,synonymous_variant,p.=,ENST00000292599,NM_014757.4;MAML1,intron_variant,,ENST00000503050,;MAML1,non_coding_transcript_exon_variant,,ENST00000511027,;MAML1,downstream_gene_variant,,ENST00000507385,;	A	ENST00000292599	Transcript	synonymous_variant	2417/5723	2154/3051	718/1016	L	ctG/ctA	rs756817768,COSM383444	1		1	MAML1	HGNC	HGNC:13632	protein_coding	YES	CCDS34315.1	ENSP00000292599	Q92585		UPI0000071286	NM_014757.4			5/5		hmmpanther:PTHR15692:SF19,hmmpanther:PTHR15692											0,1						LOW	1	SNV	1		0,1	1										PASS		rs756817768	.												A	2	1	46	179773980	179773980	G	A	1	0	0	0	0	0	0	0	1	9126	1277	45	3		3	MAML1	5	179773980	Silent	SNP	G	C3N-00294_TP	622787	179773980	1764279	471	13973											
SLC22A23	0	.	GRCh38	chr6	3298098	3298098	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggtgtgctcacctggtatCacacccttgatgtcgccctc	5	11	10	15	2	2	1	2	1	0	0	4	1	2	1	3	2	1	2	3	2	1	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1203G>C	p.=	p.V401V	ENST00000406686	5/10	39	34	5	48	48	0	strelka-varscan-mutect	SLC22A23,synonymous_variant,p.=,ENST00000436008,;SLC22A23,synonymous_variant,p.=,ENST00000406686,NM_015482.1;SLC22A23,synonymous_variant,p.=,ENST00000380302,NM_001286455.1;SLC22A23,synonymous_variant,p.=,ENST00000490273,NM_021945.6;SLC22A23,synonymous_variant,p.=,ENST00000485307,;SLC22A23,synonymous_variant,p.=,ENST00000467177,;PSMG4,intron_variant,,ENST00000451246,;SLC22A23,non_coding_transcript_exon_variant,,ENST00000496753,;SLC22A23,non_coding_transcript_exon_variant,,ENST00000467144,;SLC22A23,3_prime_UTR_variant,,ENST00000497691,;	G	ENST00000406686	Transcript	synonymous_variant	1203/5658	1203/2061	401/686	V	gtG/gtC		1		-1	SLC22A23	HGNC	HGNC:21106	protein_coding	YES	CCDS47363.1	ENSP00000385028	A1A5C7		UPI0000EE5391	NM_015482.1			5/10		Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF192,Superfamily_domains:SSF103473																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	46	3298098	3298098	C	G	1	0	0	0	0	0	0	0	1	14717	813	29	4		4	SLC22A23	6	3298098	Silent	SNP	C	C3N-00294_TP		3298098	167507881	472	13974											
RREB1	0	.	GRCh38	chr6	7210921	7210921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcacgatgccgagtcagaGagagaagacccagcaccagc	14	3	12	12	2	2	3	2	0	0	3	2	7	2	3	3	0	3	1	3	0	1	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.543G>C	p.Glu181Asp	p.E181D	ENST00000379938	7/13	118	86	32	97	97	0	strelka-varscan-mutect	RREB1,missense_variant,p.Glu181Asp,ENST00000379938,NM_001003699.3;RREB1,missense_variant,p.Glu181Asp,ENST00000349384,NM_001003698.3;RREB1,missense_variant,p.Glu181Asp,ENST00000379933,NM_001168344.1;RREB1,missense_variant,p.Glu181Asp,ENST00000334984,NM_001003700.1;RREB1,missense_variant,p.Glu181Asp,ENST00000483150,;RREB1,downstream_gene_variant,,ENST00000471433,;RREB1,non_coding_transcript_exon_variant,,ENST00000475946,;	C	ENST00000379938	Transcript	missense_variant	1080/8778	543/5229	181/1742	E/D	gaG/gaC		1		1	RREB1	HGNC	HGNC:10449	protein_coding	YES	CCDS34335.1	ENSP00000369270	Q92766		UPI000020E496	NM_001003699.3	tolerated(0.28)		7/13		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF42																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	7210921	7210921	G	C	1	0	0	0	0	1	0	0	0	13933	933	33	4		4	RREB1	6	7210921	Missense_Mutation	SNP	G	C3N-00294_TP	3912823	7210921	163595058	473	13975											
RREB1	0	.	GRCh38	chr6	7229303	7229303	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcaagtgtcagctacctCaggaccccggctgcaccaac	10	6	8	17	1	3	0	3	0	0	0	3	1	3	1	4	2	4	3	4	2	3	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1204C>T	p.Gln402Ter	p.Q402*	ENST00000379938	10/13	139	112	27	147	147	0	strelka-varscan-mutect	RREB1,stop_gained,p.Gln402Ter,ENST00000379938,NM_001003699.3;RREB1,stop_gained,p.Gln402Ter,ENST00000349384,NM_001003698.3;RREB1,stop_gained,p.Gln402Ter,ENST00000379933,NM_001168344.1;RREB1,stop_gained,p.Gln402Ter,ENST00000334984,NM_001003700.1;RREB1,stop_gained,p.Gln402Ter,ENST00000483150,;RREB1,upstream_gene_variant,,ENST00000611109,;	T	ENST00000379938	Transcript	stop_gained	1741/8778	1204/5229	402/1742	Q/*	Cag/Tag		1		1	RREB1	HGNC	HGNC:10449	protein_coding	YES	CCDS34335.1	ENSP00000369270	Q92766		UPI000020E496	NM_001003699.3			10/13		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF42																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	46	7229303	7229303	C	T	1	0	0	0	0	0	1	0	0	13933	827	29	3		3	RREB1	6	7229303	Nonsense_Mutation	SNP	C	C3N-00294_TP	18382	7229303	163576676	474	13976											
SIRT5	0	.	GRCh38	chr6	13591792	13591792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgcgccatagccgagtgtGagacccggctgggcaagcag	9	4	15	13	4	0	1	0	1	0	1	0	3	0	1	4	2	2	3	4	2	2	1			C3N-00294_TP	C3N-00294_NB	G	G																c.373G>C	p.Glu125Gln	p.E125Q	ENST00000606117	5/10	132	106	26	113	113	0	strelka-varscan-mutect	SIRT5,missense_variant,p.Glu17Gln,ENST00000397350,NM_001242827.1;SIRT5,missense_variant,p.Glu125Gln,ENST00000606117,NM_012241.4;SIRT5,missense_variant,p.Glu125Gln,ENST00000359782,NM_001193267.2;SIRT5,missense_variant,p.Glu125Gln,ENST00000379262,NM_031244.3;SIRT5,downstream_gene_variant,,ENST00000637463,;SIRT5,stop_lost,p.Ter80SerextTer19,ENST00000379250,;SIRT5,downstream_gene_variant,,ENST00000606427,;	C	ENST00000606117	Transcript	missense_variant	669/3922	373/933	125/310	E/Q	Gag/Cag	COSM5625313,COSM5625314	1		1	SIRT5	HGNC	HGNC:14933	protein_coding	YES	CCDS4526.1	ENSP00000476228	Q9NXA8	A0A024R012	UPI0000073EB3	NM_012241.4	tolerated(0.16)		5/10		Gene3D:3.40.50.1220,HAMAP:MF_01121,Pfam_domain:PF02146,PROSITE_profiles:PS50305,hmmpanther:PTHR11085,hmmpanther:PTHR11085:SF24,Superfamily_domains:SSF52467											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	46	13591792	13591792	G	C	1	0	0	0	0	1	0	0	0	14604	1291	45	4		4	SIRT5	6	13591792	Missense_Mutation	SNP	G	C3N-00294_TP	6362489	13591792	157214187	475	13977											
SOX4	0	.	GRCh38	chr6	21594796	21594796	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgacatgcacaacgccGagatctccaagcggctgggc	9	4	12	16	5	1	1	0	0	1	1	2	3	1	1	3	2	3	2	3	2	2	0			C3N-00294_TP	C3N-00294_NB	G	G																c.262G>T	p.Glu88Ter	p.E88*	ENST00000244745	1/1	320	247	73	311	311	0	strelka-varscan-mutect	SOX4,stop_gained,p.Glu88Ter,ENST00000244745,NM_003107.2;RP11-204E9.3,intron_variant,,ENST00000637901,;	T	ENST00000244745	Transcript	stop_gained	2029/5852	262/1425	88/474	E/*	Gag/Tag	COSM483731	1		1	SOX4	HGNC	HGNC:11200	protein_coding	YES	CCDS4547.1	ENSP00000244745	Q06945		UPI0000047FA0	NM_003107.2			1/1		PROSITE_profiles:PS50118,hmmpanther:PTHR10270:SF27,hmmpanther:PTHR10270,PIRSF_domain:PIRSF038098,Gene3D:1.10.30.10,Pfam_domain:PF00505,SMART_domains:SM00398,Superfamily_domains:SSF47095											1						HIGH	1	SNV			1	1										PASS		.	.												T	4	4	46	21594796	21594796	G	T	1	0	0	0	0	0	1	0	0	15279	1059	37	1		1	SOX4	6	21594796	Nonsense_Mutation	SNP	G	C3N-00294_TP	8003004	21594796	149211183	476	13978											
HIST1H2BA	0	.	GRCh38	chr6	25727081	25727081	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccggacactggcatctcttCgaaagctatgagcattatga	11	11	9	10	2	1	2	0	2	1	0	4	4	2	3	1	2	2	3	1	2	3	3			C3N-00294_TP	C3N-00294_NB	C	C																c.173C>G	p.Ser58Trp	p.S58W	ENST00000274764	1/1	149	120	29	157	157	0	strelka-varscan-mutect	HIST1H2BA,missense_variant,p.Ser58Trp,ENST00000274764,NM_170610.2;HIST1H2AA,upstream_gene_variant,,ENST00000297012,NM_170745.3;HIST1H2BPS1,downstream_gene_variant,,ENST00000369177,;	G	ENST00000274764	Transcript	missense_variant	173/384	173/384	58/127	S/W	tCg/tGg	COSM1696976	1		1	HIST1H2BA	HGNC	HGNC:18730	protein_coding	YES	CCDS4563.1	ENSP00000274764	Q96A08		UPI0000073C6D	NM_170610.2	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR23428,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621											1						MODERATE	1	SNV			1	1										PASS		rs968613011	.												G	3	3	46	25727081	25727081	C	G	1	0	0	0	0	1	0	0	0	7028	893	31	4		4	HIST1H2BA	6	25727081	Missense_Mutation	SNP	C	C3N-00294_TP	4132285	25727081	145078898	477	13979											
TRIM38	0	.	GRCh38	chr6	25983212	25983212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcacgaactaattctctCtgaggatcggagacaagtga	13	10	9	9	2	4	3	2	2	2	1	6	6	4	4	0	2	1	0	0	2	3	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.923C>T	p.Ser308Phe	p.S308F	ENST00000357085	8/8	74	61	13	97	97	0	strelka-varscan-mutect	TRIM38,missense_variant,p.Ser308Phe,ENST00000357085,NM_006355.4;U91328.21,downstream_gene_variant,,ENST00000608931,;	T	ENST00000357085	Transcript	missense_variant	1399/9413	923/1398	308/465	S/F	tCt/tTt		1		1	TRIM38	HGNC	HGNC:10059	protein_coding	YES	CCDS4568.1	ENSP00000349596	O00635	A0A024QZY4	UPI000013431A	NM_006355.4	deleterious(0.02)		8/8		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF47,hmmpanther:PTHR24103,Pfam_domain:PF13765,SMART_domains:SM00589,Superfamily_domains:SSF49899,Prints_domain:PR01407																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	25983212	25983212	C	T	1	0	0	0	0	1	0	0	0	17001	913	32	3		3	TRIM38	6	25983212	Missense_Mutation	SNP	C	C3N-00294_TP	256131	25983212	144822767	478	13980											
HIST1H3B	0	.	GRCh38	chr6	26031883	26031883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcttccgaatcagcaactCggtcgacttttggtagcggc	8	10	11	12	4	1	0	1	0	0	0	4	2	2	0	1	3	4	3	1	3	3	4	rs753823527		C3N-00294_TP	C3N-00294_NB	C	C																c.178G>A	p.Glu60Lys	p.E60K	ENST00000621411	1/1	283	220	63	320	320	0	strelka-varscan-mutect	HIST1H3B,missense_variant,p.Glu60Lys,ENST00000621411,NM_003537.3;HIST1H4B,upstream_gene_variant,,ENST00000377745,NM_003544.2;HIST1H2AB,downstream_gene_variant,,ENST00000615868,NM_003513.2;	T	ENST00000621411	Transcript	missense_variant	178/411	178/411	60/136	E/K	Gag/Aag	rs753823527	1		-1	HIST1H3B	HGNC	HGNC:4776	protein_coding	YES	CCDS4573.1	ENSP00000484841	P68431		UPI00000003C7	NM_003537.3	deleterious_low_confidence(0.02)		1/1		hmmpanther:PTHR11426,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622																	MODERATE	1	SNV				1										PASS		rs753823527	.												T	3	4	46	26031883	26031883	C	T	1	0	0	0	0	1	0	0	0	7044	893	31	1		1	HIST1H3B	6	26031883	Missense_Mutation	SNP	C	C3N-00294_TP	48671	26031883	144774096	479	13981											
ZNF184	0	.	GRCh38	chr6	27451884	27451884	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcccacattcatgacactGatagggtttctctccagtat	9	15	6	11	0	2	2	1	2	1	0	5	2	4	2	2	1	0	2	2	1	2	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1675C>T	p.Gln559Ter	p.Q559*	ENST00000211936	6/6	112	85	27	142	142	0	strelka-varscan-mutect	ZNF184,stop_gained,p.Gln559Ter,ENST00000211936,NM_001318892.1,NM_007149.2;ZNF184,stop_gained,p.Gln559Ter,ENST00000377419,;	A	ENST00000211936	Transcript	stop_gained	1960/3101	1675/2256	559/751	Q/*	Cag/Tag		1		-1	ZNF184	HGNC	HGNC:12975	protein_coding	YES	CCDS4624.1	ENSP00000211936	Q99676	A0A024RCM2	UPI000013C311	NM_001318892.1,NM_007149.2			6/6		Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF22,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	46	27451884	27451884	G	A	1	0	0	0	0	0	1	0	0	18331	1299	45	3		3	ZNF184	6	27451884	Nonsense_Mutation	SNP	G	C3N-00294_TP	1420001	27451884	143354095	480	13982											
ZSCAN9	0	.	GRCh38	chr6	28227466	28227466	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagaggctgtgattttgctgGaggatctggagagagagctc	10	10	16	5	0	1	4	0	1	1	3	2	8	1	6	0	4	2	3	0	4	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.382G>C	p.Glu128Gln	p.E128Q	ENST00000425468	2/5	84	69	15	104	104	0	strelka-varscan-mutect	ZSCAN9,missense_variant,p.Glu128Gln,ENST00000527436,;ZSCAN9,missense_variant,p.Glu128Gln,ENST00000425468,NM_001199479.1;ZSCAN9,missense_variant,p.Glu128Gln,ENST00000252207,NM_006299.4;ZSCAN9,missense_variant,p.Glu128Gln,ENST00000531979,NM_001199480.1;ZSCAN9,missense_variant,p.Glu128Gln,ENST00000527844,;ZSCAN9,missense_variant,p.Glu128Gln,ENST00000531981,;ZSCAN9,missense_variant,p.Glu128Gln,ENST00000526391,;ZSCAN9,downstream_gene_variant,,ENST00000531941,;	C	ENST00000425468	Transcript	missense_variant	547/1791	382/1338	128/445	E/Q	Gag/Cag		1		1	ZSCAN9	HGNC	HGNC:12984	protein_coding	YES	CCDS56407.1	ENSP00000404074	O15535		UPI0000E09E19	NM_001199479.1	deleterious(0)		2/5		Low_complexity_(Seg):seg,PROSITE_profiles:PS50804,hmmpanther:PTHR23226:SF15,hmmpanther:PTHR23226,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	28227466	28227466	G	C	1	0	0	0	0	1	0	0	0	18840	1175	41	4		4	ZSCAN9	6	28227466	Missense_Mutation	SNP	G	C3N-00294_TP	775582	28227466	142578513	481	13983											
MDC1	0	.	GRCh38	chr6	30704861	30704861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtttcaggggtcttcacaGaggacctatttgtcctgccc	6	13	10	12	0	3	1	2	0	1	1	4	2	4	2	3	3	1	1	3	3	1	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4322C>T	p.Ser1441Phe	p.S1441F	ENST00000376406	10/15	75	62	13	59	59	0	strelka-varscan-mutect	MDC1,missense_variant,p.Ser1441Phe,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,;	A	ENST00000376406	Transcript	missense_variant	4970/7576	4322/6270	1441/2089	S/F	tCt/tTt		1		-1	MDC1	HGNC	HGNC:21163	protein_coding	YES	CCDS34384.1	ENSP00000365588	Q14676		UPI00001AF453	NM_014641.2	deleterious(0)		10/15																			MODERATE		SNV	5			1										PASS		.	.												A	3	1	46	30704861	30704861	G	A	1	0	0	0	0	1	0	0	0	9341	942	33	3		3	MDC1	6	30704861	Missense_Mutation	SNP	G	C3N-00294_TP	2477395	30704861	140101118	482	13984											
HLA-B	0	.	GRCh38	chr6	31355424	31355424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcccacttctggaaggttCtatctcctgctggtctggtc	4	14	10	13	0	4	0	0	0	4	0	6	1	4	1	2	4	2	2	2	4	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.788G>A	p.Arg263Lys	p.R263K	ENST00000412585	4/8	329	287	42	359	359	0	strelka-varscan-mutect	HLA-B,missense_variant,p.Arg263Lys,ENST00000412585,NM_005514.6;HLA-B,downstream_gene_variant,,ENST00000434333,;MIR6891,upstream_gene_variant,,ENST00000618788,;HLA-B,non_coding_transcript_exon_variant,,ENST00000498007,;HLA-B,non_coding_transcript_exon_variant,,ENST00000463574,;HLA-B,downstream_gene_variant,,ENST00000474381,;HLA-B,upstream_gene_variant,,ENST00000497377,;HLA-B,upstream_gene_variant,,ENST00000481849,;XXbac-BPG248L24.12,upstream_gene_variant,,ENST00000603274,;	T	ENST00000412585	Transcript	missense_variant	817/1547	788/1089	263/362	R/K	aGa/aAa		1		-1	HLA-B	HGNC	HGNC:4932	protein_coding	YES	CCDS34394.1	ENSP00000399168	P01889,P30480,P30486,Q29836,Q31612,Q31610	E5FQ95	UPI0000000B17	NM_005514.6	deleterious_low_confidence(0)		4/8		PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF181,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	46	31355424	31355424	C	T	1	0	0	0	0	1	0	0	0	7085	913	32	3		3	HLA-B	6	31355424	Missense_Mutation	SNP	C	C3N-00294_TP	650563	31355424	139450555	483	13985											
BAG6	0	.	GRCh38	chr6	31647749	31647749	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttctgatgtttgagagctCaaggctactggctccggggt	6	12	15	8	1	2	2	1	2	1	1	3	3	3	2	1	5	2	5	1	5	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.648G>C	p.Leu216Phe	p.L216F	ENST00000375964	7/25	61	49	12	104	104	0	strelka-mutect	BAG6,missense_variant,p.Leu216Phe,ENST00000375964,NM_004639.3;BAG6,missense_variant,p.Leu210Phe,ENST00000211379,NM_080703.2,NM_080702.2;BAG6,missense_variant,p.Leu210Phe,ENST00000375976,NM_001098534.1;BAG6,missense_variant,p.Leu210Phe,ENST00000362049,NM_001199698.1;BAG6,missense_variant,p.Leu210Phe,ENST00000439687,NM_001199697.1;BAG6,missense_variant,p.Leu210Phe,ENST00000437771,;BAG6,missense_variant,p.Leu210Phe,ENST00000435080,;BAG6,missense_variant,p.Leu210Phe,ENST00000424480,;BAG6,missense_variant,p.Leu210Phe,ENST00000428326,;BAG6,missense_variant,p.Leu192Phe,ENST00000451898,;BAG6,missense_variant,p.Leu210Phe,ENST00000433828,;BAG6,missense_variant,p.Leu210Phe,ENST00000452994,;BAG6,missense_variant,p.Leu192Phe,ENST00000456622,;BAG6,missense_variant,p.Leu192Phe,ENST00000434444,;BAG6,missense_variant,p.Leu192Phe,ENST00000424176,;BAG6,missense_variant,p.Leu192Phe,ENST00000441054,;APOM,upstream_gene_variant,,ENST00000375918,;BAG6,downstream_gene_variant,,ENST00000456286,;BAG6,upstream_gene_variant,,ENST00000438149,;APOM,upstream_gene_variant,,ENST00000375920,NM_001256169.1;BAG6,upstream_gene_variant,,ENST00000453833,;BAG6,downstream_gene_variant,,ENST00000454165,;BAG6,upstream_gene_variant,,ENST00000470875,;BAG6,upstream_gene_variant,,ENST00000469182,;BAG6,upstream_gene_variant,,ENST00000465348,;BAG6,upstream_gene_variant,,ENST00000462682,;	G	ENST00000375964	Transcript	missense_variant	962/3815	648/3399	216/1132	L/F	ttG/ttC		1		-1	BAG6	HGNC	HGNC:13919	protein_coding	YES	CCDS47403.1	ENSP00000365131	P46379		UPI000047029D	NM_004639.3	tolerated(0.09)		7/25		hmmpanther:PTHR15204:SF0,hmmpanther:PTHR15204																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	31647749	31647749	C	G	1	0	0	0	0	1	0	0	0	1449	825	29	4		4	BAG6	6	31647749	Missense_Mutation	SNP	C	C3N-00294_TP	292325	31647749	139158230	484	13986											
HSPA1A	0	.	GRCh38	chr6	31815975	31815975	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtttgacgcgaagcggctGattggccgcaagttcggcga	7	9	16	9	6	0	2	0	2	0	0	1	4	0	2	1	3	1	4	1	3	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.219G>A	p.=	p.L73L	ENST00000375651	1/1	46	37	9	74	74	0	strelka-varscan-mutect	HSPA1A,synonymous_variant,p.=,ENST00000375651,NM_005345.5;HSPA1A,intron_variant,,ENST00000608703,;HSPA1L,upstream_gene_variant,,ENST00000375654,NM_005527.3;	A	ENST00000375651	Transcript	synonymous_variant	512/2483	219/1926	73/641	L	ctG/ctA		1		1	HSPA1A	HGNC	HGNC:5232	protein_coding	YES	CCDS34414.1	ENSP00000364802	P0DMV8	A8K5I0	UPI0000000C40	NM_005345.5			1/1		hmmpanther:PTHR19375:SF236,hmmpanther:PTHR19375,Gene3D:3.30.30.30,Pfam_domain:PF00012,Superfamily_domains:SSF53067																	LOW		SNV				1										PASS		.	.												A	2	1	46	31815975	31815975	G	A	1	0	0	0	0	0	0	0	1	7304	1277	45	3		3	HSPA1A	6	31815975	Silent	SNP	G	C3N-00294_TP	168226	31815975	138990004	485	13987											
HSPA1A	0	.	GRCh38	chr6	31817406	31817406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctacgccttcaacatgaaGagcgccgtggaggatgaggg	10	7	14	10	3	1	3	1	2	0	1	2	5	2	5	3	3	3	0	3	3	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1650G>A	p.=	p.K550K	ENST00000375651	1/1	352	284	68	306	306	0	strelka-varscan-mutect	HSPA1A,synonymous_variant,p.=,ENST00000375651,NM_005345.5;HSPA1A,synonymous_variant,p.=,ENST00000608703,;HSPA1L,upstream_gene_variant,,ENST00000375654,NM_005527.3;	A	ENST00000375651	Transcript	synonymous_variant	1943/2483	1650/1926	550/641	K	aaG/aaA		1		1	HSPA1A	HGNC	HGNC:5232	protein_coding	YES	CCDS34414.1	ENSP00000364802	P0DMV8	A8K5I0	UPI0000000C40	NM_005345.5			1/1		hmmpanther:PTHR19375:SF236,hmmpanther:PTHR19375,Pfam_domain:PF00012,Gene3D:1.20.1270.10,Superfamily_domains:SSF100934																	LOW		SNV				1										PASS		.	.												A	2	1	46	31817406	31817406	G	A	1	0	0	0	0	0	0	0	1	7304	933	33	3		3	HSPA1A	6	31817406	Silent	SNP	G	C3N-00294_TP	1431	31817406	138988573	486	13988											
SKIV2L	0	.	GRCh38	chr6	31962565	31962565	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggaggcctcctgcctcatCatgaccacagagatccttcg	8	8	9	16	2	2	2	2	1	0	1	5	4	4	3	6	2	1	0	6	2	0	1	rs866962006		C3N-00294_TP	C3N-00294_NB	C	C																c.1191C>G	p.Ile397Met	p.I397M	ENST00000375394	11/28	101	75	26	93	93	0	strelka-varscan-mutect	SKIV2L,missense_variant,p.Ile397Met,ENST00000375394,NM_006929.4;NELFE,upstream_gene_variant,,ENST00000375429,NM_002904.5;NELFE,upstream_gene_variant,,ENST00000375425,;NELFE,upstream_gene_variant,,ENST00000444811,;NELFE,upstream_gene_variant,,ENST00000441998,;NELFE,upstream_gene_variant,,ENST00000454913,;NELFE,upstream_gene_variant,,ENST00000436289,;NELFE,upstream_gene_variant,,ENST00000426722,;SKIV2L,downstream_gene_variant,,ENST00000628157,;NELFE,upstream_gene_variant,,ENST00000625905,;SKIV2L,downstream_gene_variant,,ENST00000488648,;SKIV2L,upstream_gene_variant,,ENST00000461915,;SKIV2L,3_prime_UTR_variant,,ENST00000474839,;SKIV2L,3_prime_UTR_variant,,ENST00000461073,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000465703,;SKIV2L,non_coding_transcript_exon_variant,,ENST00000466290,;NELFE,upstream_gene_variant,,ENST00000488426,;NELFE,upstream_gene_variant,,ENST00000492185,;NELFE,upstream_gene_variant,,ENST00000481121,;SKIV2L,upstream_gene_variant,,ENST00000484835,;SKIV2L,upstream_gene_variant,,ENST00000494058,;SKIV2L,downstream_gene_variant,,ENST00000492900,;NELFE,upstream_gene_variant,,ENST00000492539,;NELFE,upstream_gene_variant,,ENST00000491139,;NELFE,upstream_gene_variant,,ENST00000494956,;	G	ENST00000375394	Transcript	missense_variant	1304/3894	1191/3741	397/1246	I/M	atC/atG	rs866962006,COSM3830150,COSM3830151	1		1	SKIV2L	HGNC	HGNC:10898	protein_coding	YES	CCDS4731.1	ENSP00000364543	Q15477		UPI000045740B	NM_006929.4	deleterious(0)		11/28		Gene3D:3.40.50.300,Pfam_domain:PF00270,PIRSF_domain:PIRSF005198,PROSITE_profiles:PS51192,SMART_domains:SM00487,Superfamily_domains:SSF52540											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs866962006	.												G	3	3	46	31962565	31962565	C	G	1	0	0	0	0	1	0	0	0	14622	816	29	4		4	SKIV2L	6	31962565	Missense_Mutation	SNP	C	C3N-00294_TP	145159	31962565	138843414	487	13989											
TAP1	0	.	GRCh38	chr6	32853579	32853579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactgtccccagccatgcgaGagaagctccggggaggcagc	9	5	14	13	2	0	1	0	0	0	1	2	4	2	2	4	3	5	2	4	3	2	1	rs773916016		C3N-00294_TP	C3N-00294_NB	G	G																c.238C>G	p.Leu80Val	p.L80V	ENST00000354258	1/11	256	204	52	350	350	0	strelka-varscan-mutect	TAP1,missense_variant,p.Leu80Val,ENST00000354258,NM_000593.5,NM_001292022.1;PSMB9,intron_variant,,ENST00000395330,;PSMB9,intron_variant,,ENST00000414474,;PSMB9,upstream_gene_variant,,ENST00000374859,NM_002800.4;PSMB9,upstream_gene_variant,,ENST00000464863,;TAP1,upstream_gene_variant,,ENST00000486332,;PSMB9,upstream_gene_variant,,ENST00000467593,;	C	ENST00000354258	Transcript	missense_variant	400/2959	238/2427	80/808	L/V	Ctc/Gtc	rs773916016	1		-1	TAP1	HGNC	HGNC:43	protein_coding	YES	CCDS4758.1	ENSP00000346206	Q03518	A0A0S2Z5A6	UPI000002D4E6	NM_000593.5,NM_001292022.1	tolerated_low_confidence(0.13)		1/11		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PIRSF_domain:PIRSF002773																	MODERATE	1	SNV	1			1										PASS		rs773916016	.												C	3	2	46	32853579	32853579	G	C	1	0	0	0	0	1	0	0	0	15949	942	33	4		4	TAP1	6	32853579	Missense_Mutation	SNP	G	C3N-00294_TP	891014	32853579	137952400	488	13990											
WDR46	0	.	GRCh38	chr6	33288399	33288399	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcagaacgagcagctttGatacttgtttcctcttcctc	8	14	7	12	1	2	2	1	1	1	1	5	3	4	2	2	0	5	4	2	0	2	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.432C>G	p.Ile144Met	p.I144M	ENST00000374617	4/15	208	155	53	213	213	0	strelka-varscan-mutect	WDR46,missense_variant,p.Ile144Met,ENST00000374617,NM_001164267.1,NM_005452.5;WDR46,missense_variant,p.Ile79Met,ENST00000444176,;RGL2,downstream_gene_variant,,ENST00000497454,NM_004761.4,NM_001243738.1;PFDN6,upstream_gene_variant,,ENST00000463584,;PFDN6,upstream_gene_variant,,ENST00000395131,;PFDN6,upstream_gene_variant,,ENST00000374606,NM_001185181.2;PFDN6,upstream_gene_variant,,ENST00000374607,NM_014260.3,NM_001265595.1,NM_001265596.1;PFDN6,upstream_gene_variant,,ENST00000374610,;PFDN6,upstream_gene_variant,,ENST00000622807,;WDR46,upstream_gene_variant,,ENST00000622788,;WDR46,non_coding_transcript_exon_variant,,ENST00000477718,;WDR46,non_coding_transcript_exon_variant,,ENST00000468157,;RGL2,downstream_gene_variant,,ENST00000437840,;RGL2,downstream_gene_variant,,ENST00000491168,;RGL2,downstream_gene_variant,,ENST00000471319,;B3GALT4,downstream_gene_variant,,ENST00000606990,;WDR46,non_coding_transcript_exon_variant,,ENST00000481025,;RGL2,downstream_gene_variant,,ENST00000483151,;RGL2,downstream_gene_variant,,ENST00000476616,;WDR46,upstream_gene_variant,,ENST00000489905,;PFDN6,upstream_gene_variant,,ENST00000491382,;PFDN6,upstream_gene_variant,,ENST00000395134,;WDR46,upstream_gene_variant,,ENST00000488944,;	C	ENST00000374617	Transcript	missense_variant	789/2358	432/1833	144/610	I/M	atC/atG		1		-1	WDR46	HGNC	HGNC:13923	protein_coding	YES	CCDS4772.1	ENSP00000363746	O15213		UPI000045741F	NM_001164267.1,NM_005452.5	tolerated(0.1)		4/15		hmmpanther:PTHR14085:SF3,hmmpanther:PTHR14085																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	33288399	33288399	G	C	1	0	0	0	0	1	0	0	0	17859	1280	45	4		4	WDR46	6	33288399	Missense_Mutation	SNP	G	C3N-00294_TP	434820	33288399	137517580	489	13991											
ZBTB22	0	.	GRCh38	chr6	33315531	33315531	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacccggcacacccaggctCcccaccgacgtgccccccac	7	3	7	24	3	0	0	0	0	0	0	1	1	1	0	8	2	2	2	8	2	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1386G>T	p.=	p.G462G	ENST00000431845	2/2	126	106	20	156	156	0	strelka-varscan-mutect	ZBTB22,synonymous_variant,p.=,ENST00000431845,NM_005453.4;ZBTB22,synonymous_variant,p.=,ENST00000418724,NM_001145338.1;TAPBP,upstream_gene_variant,,ENST00000434618,NM_003190.4;DAXX,downstream_gene_variant,,ENST00000374542,NM_001141969.1,NM_001141970.1,NM_001350.4;DAXX,downstream_gene_variant,,ENST00000266000,;DAXX,downstream_gene_variant,,ENST00000620164,;DAXX,downstream_gene_variant,,ENST00000414083,NM_001254717.1;TAPBP,upstream_gene_variant,,ENST00000426633,NM_172208.2;TAPBP,upstream_gene_variant,,ENST00000475304,;TAPBP,upstream_gene_variant,,ENST00000489157,NM_172209.2;TAPBP,upstream_gene_variant,,ENST00000456592,;TAPBP,upstream_gene_variant,,ENST00000467025,;ZBTB22,downstream_gene_variant,,ENST00000441117,;DAXX,downstream_gene_variant,,ENST00000477162,;DAXX,downstream_gene_variant,,ENST00000468536,;TAPBP,upstream_gene_variant,,ENST00000480730,;TAPBP,upstream_gene_variant,,ENST00000437116,;TAPBP,upstream_gene_variant,,ENST00000476333,;DAXX,downstream_gene_variant,,ENST00000490173,;	A	ENST00000431845	Transcript	synonymous_variant	1538/2651	1386/1905	462/634	G	ggG/ggT		1		-1	ZBTB22	HGNC	HGNC:13085	protein_coding	YES	CCDS4775.1	ENSP00000407545	O15209		UPI000013C34E	NM_005453.4			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF4																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	33315531	33315531	C	A	1	0	0	0	0	0	0	0	1	18099	842	30	2		2	ZBTB22	6	33315531	Silent	SNP	C	C3N-00294_TP	27132	33315531	137490448	490	13992											
SYNGAP1	0	.	GRCh38	chr6	33443361	33443361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcttccacatggctgctGatgggccaggtcccccaggc	5	9	11	16	0	1	1	0	1	1	0	4	1	3	1	4	4	1	2	4	4	0	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2809G>A	p.Asp937Asn	p.D937N	ENST00000629380	15/19	296	245	51	322	322	0	strelka-varscan-mutect	SYNGAP1,missense_variant,p.Asp937Asn,ENST00000629380,NM_006772.2;SYNGAP1,missense_variant,p.Asp937Asn,ENST00000418600,;SYNGAP1,missense_variant,p.Asp878Asn,ENST00000428982,;SYNGAP1,missense_variant,p.Asp937Asn,ENST00000628646,;SYNGAP1,missense_variant,p.Asp923Asn,ENST00000449372,;SYNGAP1,downstream_gene_variant,,ENST00000579078,;XXbac-BPG294E21.9,intron_variant,,ENST00000630418,;SYNGAP1,downstream_gene_variant,,ENST00000636640,;SYNGAP1,downstream_gene_variant,,ENST00000636193,;SYNGAP1,upstream_gene_variant,,ENST00000636436,;SYNGAP1,downstream_gene_variant,,ENST00000637671,;SYNGAP1,missense_variant,p.Asp922Asn,ENST00000293748,;SYNGAP1,3_prime_UTR_variant,,ENST00000638142,;SYNGAP1,downstream_gene_variant,,ENST00000479510,;SYNGAP1,upstream_gene_variant,,ENST00000470232,;	A	ENST00000629380	Transcript	missense_variant	3004/9862	2809/4032	937/1343	D/N	Gat/Aat		1		1	SYNGAP1	HGNC	HGNC:11497	protein_coding	YES	CCDS34434.2	ENSP00000486463	Q96PV0		UPI0000470C44	NM_006772.2	tolerated(0.71)		15/19		hmmpanther:PTHR10194:SF25,hmmpanther:PTHR10194,Pfam_domain:PF12004																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	46	33443361	33443361	G	A	1	0	0	0	0	1	0	0	0	15841	1290	45	3		3	SYNGAP1	6	33443361	Missense_Mutation	SNP	G	C3N-00294_TP	127830	33443361	137362618	491	13993											
SLC26A8	0	.	GRCh38	chr6	35955318	35955318	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtgagctgtttcttgatGagttattaggaagccaaact	10	14	11	6	0	1	3	0	3	1	0	1	4	1	4	1	2	3	3	1	2	4	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2066C>G	p.Ser689Ter	p.S689*	ENST00000490799	17/20	361	303	58	441	441	0	strelka-varscan-mutect	SLC26A8,stop_gained,p.Ser689Ter,ENST00000490799,NM_052961.3;SLC26A8,stop_gained,p.Ser689Ter,ENST00000355574,NM_001193476.1;SLC26A8,stop_gained,p.Ser584Ter,ENST00000394602,NM_138718.2;SLC26A8,stop_gained,p.Ser241Ter,ENST00000465492,;SLC26A8,non_coding_transcript_exon_variant,,ENST00000466805,;SLC26A8,downstream_gene_variant,,ENST00000486155,;	C	ENST00000490799	Transcript	stop_gained	2420/3653	2066/2913	689/970	S/*	tCa/tGa		1		-1	SLC26A8	HGNC	HGNC:14468	protein_coding	YES	CCDS4813.1	ENSP00000417638	Q96RN1	A0A024RCV0	UPI00000739C0	NM_052961.3			17/20		Pfam_domain:PF01740,PROSITE_profiles:PS50801																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	46	35955318	35955318	G	C	1	0	0	0	0	0	1	0	0	14793	1294	45	4		4	SLC26A8	6	35955318	Nonsense_Mutation	SNP	G	C3N-00294_TP	2511957	35955318	134850661	492	13994											
PNPLA1	0	.	GRCh38	chr6	36306372	36306372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccgtcagcaagccttatGtaacgtaagtttccccttcg	11	11	7	12	3	1	0	1	0	0	0	3	0	2	0	4	0	4	4	4	0	5	5			C3N-00294_TP	C3N-00294_NB	G	G																c.1465G>T	p.Val489Leu	p.V489L	ENST00000394571	7/8	95	66	29	80	80	0	strelka-varscan-mutect	PNPLA1,missense_variant,p.Val394Leu,ENST00000388715,NM_173676.2;PNPLA1,missense_variant,p.Val398Leu,ENST00000636260,;PNPLA1,missense_variant,p.Val490Leu,ENST00000457797,;PNPLA1,missense_variant,p.Val489Leu,ENST00000394571,NM_001145717.1;PNPLA1,missense_variant,p.Val403Leu,ENST00000312917,NM_001145716.2;	T	ENST00000394571	Transcript	missense_variant	1465/1599	1465/1599	489/532	V/L	Gta/Tta	COSM4434084,COSM4434085,COSM4434086	1		1	PNPLA1	HGNC	HGNC:21246	protein_coding	YES	CCDS54997.1	ENSP00000378072	Q8N8W4	B8XXQ3	UPI000189560E	NM_001145717.1	tolerated_low_confidence(0.41)		7/8		hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF23											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs1327123712	.												T	3	4	46	36306372	36306372	G	T	1	0	0	0	0	1	0	0	0	12272	1391	48	2		2	PNPLA1	6	36306372	Missense_Mutation	SNP	G	C3N-00294_TP	351054	36306372	134499607	493	13995											
FGD2	0	.	GRCh38	chr6	37013703	37013703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaactttgagcgagcggctGagctgctggccacctggacc	8	7	14	12	2	0	3	0	2	0	1	0	5	0	4	3	3	5	3	3	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.622G>C	p.Glu208Gln	p.E208Q	ENST00000274963	5/16	173	141	32	219	219	0	strelka-varscan-mutect	FGD2,missense_variant,p.Glu208Gln,ENST00000274963,NM_173558.3;FGD2,3_prime_UTR_variant,,ENST00000373535,;FGD2,non_coding_transcript_exon_variant,,ENST00000493635,;FGD2,non_coding_transcript_exon_variant,,ENST00000494343,;FGD2,non_coding_transcript_exon_variant,,ENST00000464083,;FGD2,non_coding_transcript_exon_variant,,ENST00000470273,;FGD2,downstream_gene_variant,,ENST00000489356,;FGD2,downstream_gene_variant,,ENST00000487975,;FGD2,downstream_gene_variant,,ENST00000459781,;FGD2,downstream_gene_variant,,ENST00000497659,;	C	ENST00000274963	Transcript	missense_variant	793/3046	622/1968	208/655	E/Q	Gag/Cag		1		1	FGD2	HGNC	HGNC:3664	protein_coding	YES	CCDS4829.1	ENSP00000274963	Q7Z6J4		UPI00001A9477	NM_173558.3	deleterious(0.02)		5/16		PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF82,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	37013703	37013703	G	C	1	0	0	0	0	1	0	0	0	5697	1291	45	4		4	FGD2	6	37013703	Missense_Mutation	SNP	G	C3N-00294_TP	707331	37013703	133792276	494	13996											
DNAH8	0	.	GRCh38	chr6	38873111	38873111	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatgggcatggtctatatCagcagctctgctctcagctg	8	11	12	10	0	4	0	2	0	3	0	5	1	4	1	0	3	4	5	0	3	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.7443C>T	p.=	p.I2481I	ENST00000327475	51/93	314	252	62	305	305	0	strelka-varscan-mutect	DNAH8,synonymous_variant,p.=,ENST00000327475,NM_001206927.1;DNAH8,synonymous_variant,p.=,ENST00000359357,;DNAH8,synonymous_variant,p.=,ENST00000449981,;DNAH8,downstream_gene_variant,,ENST00000394393,;	T	ENST00000327475	Transcript	synonymous_variant	7552/14360	7443/14124	2481/4707	I	atC/atT		1		1	DNAH8	HGNC	HGNC:2952	protein_coding	YES	CCDS75447.1	ENSP00000333363		A0A075B6F3	UPI000179A984	NM_001206927.1			51/93		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF280,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	46	38873111	38873111	C	T	1	0	0	0	0	0	0	0	1	4422	816	29	3		3	DNAH8	6	38873111	Silent	SNP	C	C3N-00294_TP	1859408	38873111	131932868	495	13997											
KLC4	0	.	GRCh38	chr6	43072838	43072838	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccagggcactgaccctatCagccagacgaaggtggcaga	11	6	12	12	1	1	3	1	1	0	2	2	4	2	3	3	3	1	2	3	3	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1557C>G	p.Ile519Met	p.I519M	ENST00000259708	13/16	212	172	40	204	204	0	strelka-varscan-mutect	KLC4,missense_variant,p.Ile501Met,ENST00000394056,NM_201522.2;KLC4,missense_variant,p.Ile519Met,ENST00000259708,NM_201523.2;KLC4,missense_variant,p.Ile501Met,ENST00000479388,NM_001289034.1;KLC4,missense_variant,p.Ile501Met,ENST00000347162,NM_201521.2;KLC4,missense_variant,p.Ile424Met,ENST00000453940,NM_001289035.1;PTK7,upstream_gene_variant,,ENST00000230419,NM_002821.4;PTK7,upstream_gene_variant,,ENST00000345201,NM_152880.3;PTK7,upstream_gene_variant,,ENST00000352931,NM_152882.3;PTK7,upstream_gene_variant,,ENST00000349241,NM_152881.3;PTK7,upstream_gene_variant,,ENST00000481273,NM_001270398.1;PTK7,upstream_gene_variant,,ENST00000471863,;PTK7,upstream_gene_variant,,ENST00000476760,;RP11-387M24.5,downstream_gene_variant,,ENST00000606123,;KLC4,3_prime_UTR_variant,,ENST00000467906,;KLC4,3_prime_UTR_variant,,ENST00000469987,;PTK7,upstream_gene_variant,,ENST00000487673,;PTK7,upstream_gene_variant,,ENST00000470019,;PTK7,upstream_gene_variant,,ENST00000230418,;KLC4,downstream_gene_variant,,ENST00000463063,;KLC4,upstream_gene_variant,,ENST00000486439,;KLC4,upstream_gene_variant,,ENST00000463168,;	G	ENST00000259708	Transcript	missense_variant	1910/2688	1557/1914	519/637	I/M	atC/atG		1		1	KLC4	HGNC	HGNC:21624	protein_coding	YES	CCDS4882.1	ENSP00000259708	Q9NSK0		UPI000023C3DA	NM_201523.2	tolerated(0.05)		13/16		hmmpanther:PTHR19959:SF139,hmmpanther:PTHR19959																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	46	43072838	43072838	C	G	1	0	0	0	0	1	0	0	0	8201	816	29	4		4	KLC4	6	43072838	Missense_Mutation	SNP	C	C3N-00294_TP	4199727	43072838	127733141	496	13998											
TTBK1	0	.	GRCh38	chr6	43255838	43255838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgccagcctcgactacttCaccaagcccgactaccaggt	10	8	7	16	2	1	0	1	0	0	0	2	2	1	0	5	1	5	0	5	1	3	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.843C>T	p.=	p.F281F	ENST00000259750	9/15	153	113	40	180	180	0	strelka-varscan-mutect	TTBK1,synonymous_variant,p.=,ENST00000259750,NM_032538.1;TTBK1,synonymous_variant,p.=,ENST00000304139,;	T	ENST00000259750	Transcript	synonymous_variant	926/6932	843/3966	281/1321	F	ttC/ttT		1		1	TTBK1	HGNC	HGNC:19140	protein_coding	YES	CCDS34455.1	ENSP00000259750	Q5TCY1		UPI000041512B	NM_032538.1			9/15		PROSITE_profiles:PS50011,hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF130,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	43255838	43255838	C	T	1	0	0	0	0	0	0	0	1	17186	825	29	3		3	TTBK1	6	43255838	Silent	SNP	C	C3N-00294_TP	183000	43255838	127550141	497	13999											
VEGFA	0	.	GRCh38	chr6	43774383	43774383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaggaggagggcagaatCatcacgaaggtgagtccccc	13	4	14	10	1	2	3	2	1	0	2	3	6	3	5	2	4	0	1	2	4	3	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.649C>T	p.His217Tyr	p.H217Y	ENST00000611736	2/8	408	312	96	390	390	0	strelka-varscan-mutect	VEGFA,missense_variant,p.His217Tyr,ENST00000611736,NM_001025366.2;VEGFA,missense_variant,p.His217Tyr,ENST00000621747,NM_001317010.1,NM_001025368.2;VEGFA,missense_variant,p.His217Tyr,ENST00000372067,;VEGFA,missense_variant,p.His217Tyr,ENST00000615393,NM_001025370.2;VEGFA,missense_variant,p.His217Tyr,ENST00000617771,NM_001171622.1;VEGFA,missense_variant,p.His217Tyr,ENST00000372064,;VEGFA,missense_variant,p.His37Tyr,ENST00000372077,NM_001171628.1;VEGFA,missense_variant,p.His217Tyr,ENST00000425836,NM_003376.5;VEGFA,missense_variant,p.His217Tyr,ENST00000372055,;VEGFA,missense_variant,p.His37Tyr,ENST00000520948,NM_001171624.1;VEGFA,missense_variant,p.His217Tyr,ENST00000413642,NM_001025367.2;VEGFA,missense_variant,p.His217Tyr,ENST00000482630,NM_001033756.2;VEGFA,missense_variant,p.His217Tyr,ENST00000417285,NM_001025369.2;VEGFA,missense_variant,p.His9Tyr,ENST00000230480,NM_001287044.1;VEGFA,missense_variant,p.His189Tyr,ENST00000519767,NM_001204384.1,NM_001204385.1;VEGFA,missense_variant,p.His217Tyr,ENST00000324450,;VEGFA,missense_variant,p.His37Tyr,ENST00000523950,NM_001171626.1;VEGFA,missense_variant,p.His37Tyr,ENST00000523873,NM_001171623.1;VEGFA,missense_variant,p.His37Tyr,ENST00000518689,NM_001171625.1;VEGFA,missense_variant,p.His37Tyr,ENST00000518824,NM_001171629.1;VEGFA,missense_variant,p.His37Tyr,ENST00000523125,NM_001171627.1;VEGFA,missense_variant,p.His37Tyr,ENST00000457104,NM_001171630.1;VEGFA,missense_variant,p.His11Tyr,ENST00000520265,;RP1-261G23.7,upstream_gene_variant,,ENST00000607600,;VEGFA,non_coding_transcript_exon_variant,,ENST00000480614,;VEGFA,non_coding_transcript_exon_variant,,ENST00000476772,;VEGFA,non_coding_transcript_exon_variant,,ENST00000518538,;VEGFA,non_coding_transcript_exon_variant,,ENST00000512683,;VEGFA,upstream_gene_variant,,ENST00000497139,;VEGFA,upstream_gene_variant,,ENST00000493786,;	T	ENST00000611736	Transcript	missense_variant	1147/3659	649/1239	217/412	H/Y	Cat/Tat		1		1	VEGFA	HGNC	HGNC:12680	protein_coding	YES	CCDS34457.1	ENSP00000478570		J3KPA4	UPI0000D61463	NM_001025366.2	deleterious(0.02)		2/8		hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF5,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	43774383	43774383	C	T	1	0	0	0	0	1	0	0	0	17695	826	29	3		3	VEGFA	6	43774383	Missense_Mutation	SNP	C	C3N-00294_TP	518545	43774383	127031596	498	14000											
TDRD6	0	.	GRCh38	chr6	46692134	46692134	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaaattagtcatctttcaGagagattaaacagtgttaaa	16	13	7	5	0	3	3	2	1	1	2	3	4	3	3	0	0	1	1	0	0	6	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4006G>C	p.Glu1336Gln	p.E1336Q	ENST00000316081	1/4	58	49	9	82	82	0	strelka-varscan-mutect	TDRD6,missense_variant,p.Glu1336Gln,ENST00000544460,NM_001168359.1;TDRD6,missense_variant,p.Glu1336Gln,ENST00000316081,NM_001010870.2;TDRD6,upstream_gene_variant,,ENST00000450697,;RP11-446F17.3,upstream_gene_variant,,ENST00000434329,;RP11-446F17.3,upstream_gene_variant,,ENST00000422284,;RP11-446F17.3,upstream_gene_variant,,ENST00000571590,;	C	ENST00000316081	Transcript	missense_variant	4006/6817	4006/6291	1336/2096	E/Q	Gag/Cag		1		1	TDRD6	HGNC	HGNC:21339	protein_coding	YES	CCDS34470.1	ENSP00000346065	O60522		UPI0000251E8A	NM_001010870.2	deleterious(0)		1/4		hmmpanther:PTHR22948:SF15,hmmpanther:PTHR22948,Pfam_domain:PF00567,Gene3D:2.30.30.140,Superfamily_domains:SSF63748																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	46692134	46692134	G	C	1	0	0	0	0	1	0	0	0	16144	943	33	4		4	TDRD6	6	46692134	Missense_Mutation	SNP	G	C3N-00294_TP	2917751	46692134	124113845	499	14001											
EFHC1	0	.	GRCh38	chr6	52424146	52424146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcggattttattcctgcGcatgtggcctttgacaaaaa	9	13	9	10	2	0	1	0	1	0	0	1	2	1	2	3	2	2	1	3	2	3	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.264G>A	p.=	p.A88A	ENST00000371068	2/11	306	243	63	344	344	0	strelka-varscan-mutect	EFHC1,synonymous_variant,p.=,ENST00000371068,NM_018100.3;EFHC1,synonymous_variant,p.=,ENST00000538167,;EFHC1,synonymous_variant,p.=,ENST00000637353,;EFHC1,synonymous_variant,p.=,ENST00000636107,;EFHC1,synonymous_variant,p.=,ENST00000635996,;EFHC1,synonymous_variant,p.=,ENST00000636489,;EFHC1,synonymous_variant,p.=,ENST00000636702,;EFHC1,synonymous_variant,p.=,ENST00000637089,;EFHC1,synonymous_variant,p.=,ENST00000636954,NM_001172420.1;EFHC1,synonymous_variant,p.=,ENST00000637263,;EFHC1,synonymous_variant,p.=,ENST00000636379,;EFHC1,synonymous_variant,p.=,ENST00000637315,;EFHC1,5_prime_UTR_variant,,ENST00000635984,;EFHC1,5_prime_UTR_variant,,ENST00000635760,;EFHC1,5_prime_UTR_variant,,ENST00000636566,;EFHC1,5_prime_UTR_variant,,ENST00000638075,;EFHC1,non_coding_transcript_exon_variant,,ENST00000637849,;EFHC1,non_coding_transcript_exon_variant,,ENST00000637892,;EFHC1,non_coding_transcript_exon_variant,,ENST00000636311,;EFHC1,non_coding_transcript_exon_variant,,ENST00000638140,;EFHC1,non_coding_transcript_exon_variant,,ENST00000491749,;EFHC1,non_coding_transcript_exon_variant,,ENST00000635843,;EFHC1,synonymous_variant,p.=,ENST00000480623,;EFHC1,synonymous_variant,p.=,ENST00000635812,;EFHC1,synonymous_variant,p.=,ENST00000635866,;EFHC1,synonymous_variant,p.=,ENST00000637200,;EFHC1,synonymous_variant,p.=,ENST00000635963,;EFHC1,non_coding_transcript_exon_variant,,ENST00000637340,;EFHC1,non_coding_transcript_exon_variant,,ENST00000635911,;EFHC1,intron_variant,,ENST00000637602,;	A	ENST00000371068	Transcript	synonymous_variant	479/6987	264/1923	88/640	A	gcG/gcA		1		1	EFHC1	HGNC	HGNC:16406	protein_coding	YES	CCDS4942.1	ENSP00000360107	Q5JVL4	B2CKC5	UPI0000141099	NM_018100.3			2/11		hmmpanther:PTHR12086,hmmpanther:PTHR12086:SF9																	LOW	1	SNV	1			1										PASS		rs1455166533	.												A	2	1	46	52424146	52424146	G	A	1	0	0	0	0	0	0	0	1	4781	1074	38	1		1	EFHC1	6	52424146	Silent	SNP	G	C3N-00294_TP	5732012	52424146	118381833	500	14002											
KLHL31	0	.	GRCh38	chr6	53652020	53652020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtgctgaggttcggcagctCctgccacgagtcgctggccg	4	9	15	13	4	0	1	0	1	0	0	3	2	1	1	3	3	3	5	3	3	0	1	rs762220452		C3N-00294_TP	C3N-00294_NB	C	C																c.1483G>C	p.Glu495Gln	p.E495Q	ENST00000370905	3/3	111	95	16	127	127	0	strelka-varscan-mutect	KLHL31,missense_variant,p.Glu495Gln,ENST00000370905,NM_001003760.4;KLHL31,missense_variant,p.Glu495Gln,ENST00000407079,;	G	ENST00000370905	Transcript	missense_variant	1624/5743	1483/1905	495/634	E/Q	Gag/Cag	rs762220452	1		-1	KLHL31	HGNC	HGNC:21353	protein_coding	YES	CCDS34478.1	ENSP00000359942	Q9H511		UPI000006D624	NM_001003760.4	tolerated(0.7)		3/3		hmmpanther:PTHR24412:SF247,hmmpanther:PTHR24412,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,Gene3D:1k3iA02,SMART_domains:SM00612,Superfamily_domains:0052715																	MODERATE	1	SNV	1			1										PASS		rs762220452	.												G	3	3	46	53652020	53652020	C	G	1	0	0	0	0	1	0	0	0	8250	864	30	4		4	KLHL31	6	53652020	Missense_Mutation	SNP	C	C3N-00294_TP	1227874	53652020	117153959	501	14003											
COL21A1	0	.	GRCh38	chr6	56077535	56077535	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatgaatacttaccttttgGcccattaatcctcggtttcc	8	16	5	12	1	1	1	1	1	0	0	4	1	3	1	4	2	2	1	4	2	4	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1851C>A	p.=	p.G617G	ENST00000244728	18/30	180	96	84	204	203	1	strelka-varscan-mutect	COL21A1,synonymous_variant,p.=,ENST00000244728,NM_001318751.1,NM_030820.3;COL21A1,synonymous_variant,p.=,ENST00000370819,NM_001318752.1;COL21A1,synonymous_variant,p.=,ENST00000535941,;COL21A1,non_coding_transcript_exon_variant,,ENST00000467045,;COL21A1,non_coding_transcript_exon_variant,,ENST00000484987,;COL21A1,3_prime_UTR_variant,,ENST00000488912,;COL21A1,non_coding_transcript_exon_variant,,ENST00000461489,;	T	ENST00000244728	Transcript	synonymous_variant	2249/4339	1851/2874	617/957	G	ggC/ggA		1		-1	COL21A1	HGNC	HGNC:17025	protein_coding	YES	CCDS55025.1	ENSP00000244728	Q96P44	A0A158RFW1	UPI0000071DFE	NM_001318751.1,NM_030820.3			18/30		hmmpanther:PTHR24023,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	56077535	56077535	G	T	1	0	0	0	0	0	0	0	1	3468	1190	42	2		2	COL21A1	6	56077535	Silent	SNP	G	C3N-00294_TP	2425515	56077535	114728444	502	14004											
EYS	0	.	GRCh38	chr6	64591103	64591103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggctaatatcgctgagttCatccagaatgtctcataaaa	13	12	7	9	1	2	2	2	1	1	1	5	2	3	2	1	1	0	3	1	1	5	4			C3N-00294_TP	C3N-00294_NB	C	C																c.4764G>A	p.Met1588Ile	p.M1588I	ENST00000370621	26/44	309	243	66	349	349	0	strelka-varscan-mutect	EYS,missense_variant,p.Met1588Ile,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Met1588Ile,ENST00000370621,NM_001292009.1;EYS,downstream_gene_variant,,ENST00000330816,;	T	ENST00000370621	Transcript	missense_variant	5291/10485	4764/9498	1588/3165	M/I	atG/atA	COSM5598274	1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	deleterious_low_confidence(0)		26/44													1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	46	64591103	64591103	C	T	1	0	0	0	0	1	0	0	0	5200	826	29	3		3	EYS	6	64591103	Missense_Mutation	SNP	C	C3N-00294_TP	8513568	64591103	106214876	503	14005											
ADGRB3	0	.	GRCh38	chr6	68639135	68639135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatcagaaatctttttttGagtttttggtattgaacaag	13	17	8	3	0	2	4	1	2	1	2	2	4	2	4	0	1	1	2	0	1	5	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.460G>A	p.Glu154Lys	p.E154K	ENST00000370598	3/32	138	108	30	174	174	0	strelka-varscan-mutect	ADGRB3,missense_variant,p.Glu154Lys,ENST00000370598,NM_001704.2;ADGRB3,missense_variant,p.Glu154Lys,ENST00000546190,;RP3-525N10.2,upstream_gene_variant,,ENST00000604392,;RP3-525N10.2,upstream_gene_variant,,ENST00000603261,;RP3-525N10.2,upstream_gene_variant,,ENST00000419979,;	A	ENST00000370598	Transcript	missense_variant	1281/6010	460/4569	154/1522	E/K	Gag/Aag		1		1	ADGRB3	HGNC	HGNC:945	protein_coding	YES	CCDS4968.1	ENSP00000359630	O60242		UPI00001AE6A9	NM_001704.2	deleterious(0)		3/32		PROSITE_profiles:PS01180																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	68639135	68639135	G	A	1	0	0	0	0	1	0	0	0	357	1291	45	3		3	ADGRB3	6	68639135	Missense_Mutation	SNP	G	C3N-00294_TP	4048032	68639135	102166844	504	14006											
IRAK1BP1	0	.	GRCh38	chr6	78885381	78885381	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactttttctgtttcaggcaGaaaatataactgtgacaaag	14	13	8	6	0	2	2	1	1	1	1	2	3	2	2	0	1	1	2	0	1	5	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.319G>C	p.Glu107Gln	p.E107Q	ENST00000369940	2/4	78	65	13	127	127	0	strelka-varscan-mutect	IRAK1BP1,missense_variant,p.Glu107Gln,ENST00000369940,NM_001010844.3;IRAK1BP1,missense_variant,p.Glu20Gln,ENST00000607739,;IRAK1BP1,missense_variant,p.Glu97Gln,ENST00000606868,;	C	ENST00000369940	Transcript	missense_variant	424/5656	319/783	107/260	E/Q	Gaa/Caa		1		1	IRAK1BP1	HGNC	HGNC:17368	protein_coding	YES	CCDS34488.1	ENSP00000358956	Q5VVH5		UPI000016049F	NM_001010844.3	tolerated(0.09)		2/4		Pfam_domain:PF04402,hmmpanther:PTHR18842																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	78885381	78885381	G	C	1	0	0	0	0	1	0	0	0	7728	956	33	4		4	IRAK1BP1	6	78885381	Missense_Mutation	SNP	G	C3N-00294_TP	10246246	78885381	91920598	505	14007											
PHIP	0	.	GRCh38	chr6	78941223	78941223	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accactattggtattaacttCtactttaggtttccttccag	9	17	5	10	0	1	0	0	0	1	0	3	0	3	0	3	2	2	2	3	2	5	10	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.4936G>C	p.Glu1646Gln	p.E1646Q	ENST00000275034	40/40	232	199	33	278	278	0	strelka-varscan-mutect	PHIP,missense_variant,p.Glu1646Gln,ENST00000275034,NM_017934.5;PHIP,non_coding_transcript_exon_variant,,ENST00000479165,;IRAK1BP1,intron_variant,,ENST00000606868,;	G	ENST00000275034	Transcript	missense_variant	5104/10460	4936/5466	1646/1821	E/Q	Gaa/Caa		1		-1	PHIP	HGNC	HGNC:15673	protein_coding	YES	CCDS4987.1	ENSP00000275034	Q8WWQ0		UPI000013DA40	NM_017934.5	deleterious_low_confidence(0.02)		40/40		hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	78941223	78941223	C	G	1	0	0	0	0	1	0	0	0	11930	922	32	4		4	PHIP	6	78941223	Missense_Mutation	SNP	C	C3N-00294_TP	55842	78941223	91864756	506	14008											
CYB5R4	0	.	GRCh38	chr6	83955449	83955449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggaccagtgccatttacaGaacaaggagtaaggtgagta	14	8	13	6	0	0	2	0	1	0	1	0	4	0	4	2	3	3	2	2	3	5	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1498G>A	p.Glu500Lys	p.E500K	ENST00000369681	15/16	51	42	9	51	51	0	strelka-varscan-mutect	CYB5R4,missense_variant,p.Glu500Lys,ENST00000369681,NM_016230.3;CYB5R4,downstream_gene_variant,,ENST00000479164,;	A	ENST00000369681	Transcript	missense_variant	1638/9252	1498/1566	500/521	E/K	Gaa/Aaa		1		1	CYB5R4	HGNC	HGNC:20147	protein_coding	YES	CCDS5000.2	ENSP00000358695	Q7L1T6		UPI000056D3CE	NM_016230.3	tolerated(0.17)		15/16		Gene3D:3.40.50.80,Pfam_domain:PF00175,hmmpanther:PTHR19370,hmmpanther:PTHR19370:SF122,Superfamily_domains:SSF52343																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	83955449	83955449	G	A	1	0	0	0	0	1	0	0	0	3933	943	33	3		3	CYB5R4	6	83955449	Missense_Mutation	SNP	G	C3N-00294_TP	5014226	83955449	86850530	507	14009											
MDN1	0	.	GRCh38	chr6	89688618	89688618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtcctgtagcaagtgactGacagcctctgagaaaccttg	11	9	10	11	0	1	3	0	3	1	1	2	4	2	3	3	0	3	2	3	0	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.11214C>T	p.=	p.V3738V	ENST00000369393	66/102	158	120	38	181	181	0	strelka-varscan-mutect	MDN1,synonymous_variant,p.=,ENST00000369393,NM_014611.2;MDN1,synonymous_variant,p.=,ENST00000629399,;	A	ENST00000369393	Transcript	synonymous_variant	11330/18413	11214/16791	3738/5596	V	gtC/gtT		1		-1	MDN1	HGNC	HGNC:18302	protein_coding	YES	CCDS5024.1	ENSP00000358400	Q9NU22		UPI000013C4B8	NM_014611.2			66/102		hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF64																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	89688618	89688618	G	A	1	0	0	0	0	0	0	0	1	9353	1277	45	3		3	MDN1	6	89688618	Silent	SNP	G	C3N-00294_TP	5733169	89688618	81117361	508	14010											
SMPD2	0	.	GRCh38	chr6	109441451	109441451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgacctggctttgctggagGaggtgagattgtgcagcacg	7	10	16	8	2	0	1	0	1	0	1	1	5	0	3	1	4	3	4	1	4	0	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.145G>A	p.Glu49Lys	p.E49K	ENST00000258052	2/10	252	206	46	301	301	0	strelka-varscan-mutect	SMPD2,missense_variant,p.Glu49Lys,ENST00000258052,NM_003080.2;PPIL6,upstream_gene_variant,,ENST00000521072,NM_173672.4;PPIL6,upstream_gene_variant,,ENST00000424445,NM_001286360.1;MICAL1,downstream_gene_variant,,ENST00000630715,NM_001286613.1;MICAL1,downstream_gene_variant,,ENST00000358807,NM_022765.3;MICAL1,downstream_gene_variant,,ENST00000358577,NM_001159291.1;PPIL6,upstream_gene_variant,,ENST00000440797,NM_001111298.2;PPIL6,upstream_gene_variant,,ENST00000417394,;SMPD2,upstream_gene_variant,,ENST00000458487,;PPIL6,upstream_gene_variant,,ENST00000520723,NM_001286361.1;PPIL6,upstream_gene_variant,,ENST00000518648,;MICAL1,downstream_gene_variant,,ENST00000465904,;MICAL1,downstream_gene_variant,,ENST00000456101,;PPIL6,upstream_gene_variant,,ENST00000447468,;SMPD2,upstream_gene_variant,,ENST00000439615,;	A	ENST00000258052	Transcript	missense_variant,splice_region_variant	504/1645	145/1272	49/423	E/K	Gag/Aag		1		1	SMPD2	HGNC	HGNC:11121	protein_coding	YES	CCDS5075.1	ENSP00000258052	O60906		UPI000013CFAC	NM_003080.2	deleterious(0)		2/10		hmmpanther:PTHR12393:SF6,hmmpanther:PTHR12393,Gene3D:3.60.10.10,Pfam_domain:PF03372,Superfamily_domains:SSF56219																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	109441451	109441451	G	A	1	0	0	0	0	1	0	0	0	15126	1188	41	3		3	SMPD2	6	109441451	Missense_Mutation	SNP	G	C3N-00294_TP	19752833	109441451	61364528	509	14011											
TRAPPC3L	0	.	GRCh38	chr6	116545496	116545496	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttatggtattctggtcttcGgtgtgcagggcgagacatag	7	14	14	6	2	2	1	0	0	2	1	3	2	2	1	0	4	1	2	0	4	3	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.19C>A	p.=	p.R7R	ENST00000368602	1/5	107	73	34	132	132	0	strelka-varscan-mutect	TRAPPC3L,synonymous_variant,p.=,ENST00000368602,NM_001139444.2;FAM26D,intron_variant,,ENST00000368597,NM_001256889.1,NM_153036.3;FAM26D,intron_variant,,ENST00000405399,NM_001256887.1;FAM26D,intron_variant,,ENST00000628083,NM_001256888.1;FAM26D,intron_variant,,ENST00000452373,;TRAPPC3L,upstream_gene_variant,,ENST00000437098,;	T	ENST00000368602	Transcript	synonymous_variant	115/1113	19/546	7/181	R	Cga/Aga		1		-1	TRAPPC3L	HGNC	HGNC:21090	protein_coding	YES	CCDS47468.1	ENSP00000357591	Q5T215		UPI000020E146	NM_001139444.2			1/5		PIRSF_domain:PIRSF018293,hmmpanther:PTHR13048,hmmpanther:PTHR13048:SF1																	LOW		SNV	5			1										PASS		rs914356569	.												T	2	4	46	116545496	116545496	G	T	1	0	0	0	0	0	0	0	1	16948	1124	39	1		1	TRAPPC3L	6	116545496	Silent	SNP	G	C3N-00294_TP	7104045	116545496	54260483	510	14012											
SOGA3	0	.	GRCh38	chr6	127516126	127516126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccctcctcccccttctccGagcggagggggttccccgag	3	7	11	20	3	1	0	0	0	1	0	5	3	4	1	8	3	1	1	8	3	0	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.489C>T	p.=	p.L163L	ENST00000525778	2/7	29	24	5	37	37	0	strelka-mutect	SOGA3,synonymous_variant,p.=,ENST00000525778,NM_001012279.2;SOGA3,synonymous_variant,p.=,ENST00000465909,;SOGA3,downstream_gene_variant,,ENST00000467753,;C6orf58,upstream_gene_variant,,ENST00000498112,;RP3-403A15.5,synonymous_variant,p.=,ENST00000481848,;	A	ENST00000525778	Transcript	synonymous_variant	1235/4077	489/2844	163/947	L	ctC/ctT		1		-1	SOGA3	HGNC	HGNC:21494	protein_coding	YES	CCDS43505.1	ENSP00000434570	Q5TF21		UPI0000419273	NM_001012279.2			2/7		hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs1298881312	.												A	2	1	46	127516126	127516126	G	A	1	0	0	0	0	0	0	0	1	15245	1045	37	1		1	SOGA3	6	127516126	Silent	SNP	G	C3N-00294_TP	10970630	127516126	43289853	511	14013											
LAMA2	0	.	GRCh38	chr6	129366277	129366277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggctcgcctggagcagatGgtcatgagcatcaacctcac	9	9	11	12	1	3	2	3	1	0	1	4	3	3	3	2	3	3	3	2	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4776G>C	p.Met1592Ile	p.M1592I	ENST00000421865	33/65	414	329	85	436	436	0	strelka-varscan-mutect	LAMA2,missense_variant,p.Met1592Ile,ENST00000618192,;LAMA2,missense_variant,p.Met1592Ile,ENST00000617695,;LAMA2,missense_variant,p.Met1592Ile,ENST00000421865,NM_001079823.1,NM_000426.3;	C	ENST00000421865	Transcript	missense_variant	4825/9640	4776/9369	1592/3122	M/I	atG/atC		1		1	LAMA2	HGNC	HGNC:6482	protein_coding	YES	CCDS5138.1	ENSP00000400365	P24043		UPI00003673E0	NM_001079823.1,NM_000426.3	tolerated(0.57)		33/65																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	46	129366277	129366277	G	C	1	0	0	0	0	1	0	0	0	8510	1348	47	4		4	LAMA2	6	129366277	Missense_Mutation	SNP	G	C3N-00294_TP	1850151	129366277	41439702	512	14014											
ENPP3	0	.	GRCh38	chr6	131675138	131675138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctacttttggcccggatCagaagtggctataaatggct	10	12	10	9	1	1	1	1	0	0	1	1	2	1	2	2	4	2	2	2	4	6	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.821C>T	p.Ser274Leu	p.S274L	ENST00000414305	10/26	294	243	51	324	324	0	strelka-varscan-mutect	ENPP3,missense_variant,p.Ser274Leu,ENST00000414305,;ENPP3,missense_variant,p.Ser274Leu,ENST00000357639,NM_005021.3;ENPP3,missense_variant,p.Ser274Leu,ENST00000358229,;ENPP3,downstream_gene_variant,,ENST00000470930,;ENPP3,3_prime_UTR_variant,,ENST00000427707,;ENPP3,non_coding_transcript_exon_variant,,ENST00000494023,;	T	ENST00000414305	Transcript	missense_variant	1149/3418	821/2628	274/875	S/L	tCa/tTa		1		1	ENPP3	HGNC	HGNC:3358	protein_coding	YES	CCDS5148.1	ENSP00000406261	O14638		UPI000013DD9F		deleterious(0)		10/26		hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF64,Gene3D:3.40.720.10,Pfam_domain:PF01663,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	131675138	131675138	C	T	1	0	0	0	0	1	0	0	0	4976	838	29	3		3	ENPP3	6	131675138	Missense_Mutation	SNP	C	C3N-00294_TP	2308861	131675138	39130841	513	14015											
IFNGR1	0	.	GRCh38	chr6	137204394	137204394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaacaggtagtttcgggatCataatcgacttcctgctcgt	9	13	10	9	3	1	0	1	0	0	0	5	2	2	1	1	2	2	4	1	2	3	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.484G>A	p.Asp162Asn	p.D162N	ENST00000367739	4/7	256	204	52	331	331	0	strelka-varscan-mutect	IFNGR1,missense_variant,p.Asp162Asn,ENST00000367739,NM_000416.2;IFNGR1,missense_variant,p.Asp128Asn,ENST00000458076,;IFNGR1,missense_variant,p.Asp152Asn,ENST00000414770,;IFNGR1,downstream_gene_variant,,ENST00000478333,;	T	ENST00000367739	Transcript	missense_variant	606/2139	484/1470	162/489	D/N	Gat/Aat		1		-1	IFNGR1	HGNC	HGNC:5439	protein_coding	YES	CCDS5185.1	ENSP00000356713	P15260	A0A0S2Z3Y2	UPI000002CE40	NM_000416.2	deleterious(0.04)		4/7		hmmpanther:PTHR20859:SF5,hmmpanther:PTHR20859,Gene3D:2.60.40.10,Pfam_domain:PF07140,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	137204394	137204394	C	T	1	0	0	0	0	1	0	0	0	7449	826	29	3		3	IFNGR1	6	137204394	Missense_Mutation	SNP	C	C3N-00294_TP	5529256	137204394	33601585	514	14016											
ADGRG6	0	.	GRCh38	chr6	142420096	142420096	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcttctccatcttcaattCattacaaggtaagataaatt	13	15	3	10	0	5	1	2	0	3	1	6	1	5	1	2	1	1	1	2	1	6	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3311C>G	p.Ser1104Ter	p.S1104*	ENST00000367609	22/25	98	77	21	131	131	0	strelka-varscan-mutect	ADGRG6,stop_gained,p.Ser1104Ter,ENST00000230173,NM_020455.5;ADGRG6,stop_gained,p.Ser1104Ter,ENST00000367609,NM_198569.2;ADGRG6,stop_gained,p.Ser1076Ter,ENST00000367608,NM_001032395.2;ADGRG6,stop_gained,p.Ser1076Ter,ENST00000296932,NM_001032394.2;ADGRG6,non_coding_transcript_exon_variant,,ENST00000472054,;	G	ENST00000367609	Transcript	stop_gained	3712/6887	3311/3753	1104/1250	S/*	tCa/tGa		1		1	ADGRG6	HGNC	HGNC:13841	protein_coding	YES	CCDS47489.1	ENSP00000356581	Q86SQ4		UPI000022CCE4	NM_198569.2			22/25		Gene3D:1.20.1070.10,Pfam_domain:PF00002,Prints_domain:PR00249,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF290,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	46	142420096	142420096	C	G	1	0	0	0	0	0	1	0	0	373	838	29	4		4	ADGRG6	6	142420096	Nonsense_Mutation	SNP	C	C3N-00294_TP	5215702	142420096	28385883	515	14017											
ADGB	0	.	GRCh38	chr6	146635448	146635448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaattcccactctggccaGagtggagtgaagctgacata	12	8	12	9	0	1	3	0	2	1	1	2	5	2	5	2	3	1	1	2	3	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.148G>A	p.Glu50Lys	p.E50K	ENST00000397944	2/36	103	86	17	116	116	0	strelka-varscan-mutect	ADGB,missense_variant,p.Glu50Lys,ENST00000397944,NM_024694.3;ADGB,missense_variant,p.Glu44Lys,ENST00000522242,;RNU6-906P,upstream_gene_variant,,ENST00000384700,;ADGB,missense_variant,p.Glu50Lys,ENST00000493950,;ADGB,3_prime_UTR_variant,,ENST00000522396,;ADGB,non_coding_transcript_exon_variant,,ENST00000326929,;RP11-715G15.2,downstream_gene_variant,,ENST00000615810,;	A	ENST00000397944	Transcript	missense_variant	224/5325	148/5004	50/1667	E/K	Gag/Aag		1		1	ADGB	HGNC	HGNC:21212	protein_coding	YES		ENSP00000381036	Q8N7X0		UPI000020E382	NM_024694.3	deleterious(0)		2/36		hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF304,Superfamily_domains:SSF54001																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	146635448	146635448	G	A	1	0	0	0	0	1	0	0	0	351	943	33	3		3	ADGB	6	146635448	Missense_Mutation	SNP	G	C3N-00294_TP	4215352	146635448	24170531	516	14018											
STXBP5	0	.	GRCh38	chr6	147267128	147267128	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtagttttatgggacctCaaatcaaagaaagccgacta	16	9	8	8	1	2	1	2	0	0	1	2	3	2	2	2	1	1	2	2	1	6	4			C3N-00294_TP	C3N-00294_NB	C	C																c.675C>G	p.=	p.L225L	ENST00000321680	7/28	96	76	20	181	181	0	strelka-varscan-mutect	STXBP5,synonymous_variant,p.=,ENST00000367481,NM_139244.4;STXBP5,synonymous_variant,p.=,ENST00000321680,NM_001127715.2;STXBP5,synonymous_variant,p.=,ENST00000367480,;STXBP5,synonymous_variant,p.=,ENST00000546097,;	G	ENST00000321680	Transcript	synonymous_variant	675/3456	675/3456	225/1151	L	ctC/ctG	COSM121969	1		1	STXBP5	HGNC	HGNC:19665	protein_coding	YES	CCDS47499.1	ENSP00000321826	Q5T5C0		UPI0000199FE0	NM_001127715.2			7/28		hmmpanther:PTHR10241:SF22,hmmpanther:PTHR10241,Gene3D:2.130.10.10,Superfamily_domains:SSF50978											1						LOW	1	SNV	5		1	1										PASS		.	.												G	2	3	46	147267128	147267128	C	G	1	0	0	0	0	0	0	0	1	15740	813	29	4		4	STXBP5	6	147267128	Silent	SNP	C	C3N-00294_TP	631680	147267128	23538851	517	14019											
AKAP12	0	.	GRCh38	chr6	151353284	151353284	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcacattctgatatttcCaaagacatgagtgaagcctc	14	10	7	10	0	1	4	0	3	1	1	3	4	2	4	2	0	2	1	2	0	4	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.4893C>G	p.=	p.S1631S	ENST00000402676	4/5	168	135	33	194	194	0	strelka-varscan-mutect	AKAP12,synonymous_variant,p.=,ENST00000402676,NM_005100.3;AKAP12,synonymous_variant,p.=,ENST00000253332,;AKAP12,synonymous_variant,p.=,ENST00000354675,NM_144497.2;AKAP12,synonymous_variant,p.=,ENST00000359755,;AKAP12,downstream_gene_variant,,ENST00000490177,;	G	ENST00000402676	Transcript	synonymous_variant	5133/8432	4893/5349	1631/1782	S	tcC/tcG		1		1	AKAP12	HGNC	HGNC:370	protein_coding	YES	CCDS5229.1	ENSP00000384537	Q02952		UPI000013CDC7	NM_005100.3			4/5		hmmpanther:PTHR23209																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	46	151353284	151353284	C	G	1	0	0	0	0	0	0	0	1	531	581	21	4		4	AKAP12	6	151353284	Silent	SNP	C	C3N-00294_TP	4086156	151353284	19452695	518	14020											
RGS17	0	.	GRCh38	chr6	153024400	153024400	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcttcactgtattctgttcgGaggaactctctgaaaaggtt	9	15	9	8	1	4	1	1	1	3	0	6	3	4	3	0	3	1	3	0	3	4	5	rs768032614		C3N-00294_TP	C3N-00294_NB	G	G																c.306C>G	p.=	p.L102L	ENST00000367225	3/4	270	226	44	369	369	0	strelka-varscan-mutect	RGS17,synonymous_variant,p.=,ENST00000367225,;RGS17,synonymous_variant,p.=,ENST00000206262,NM_012419.4;	C	ENST00000367225	Transcript	synonymous_variant	331/7773	306/633	102/210	L	ctC/ctG	rs768032614	1		-1	RGS17	HGNC	HGNC:14088	protein_coding	YES	CCDS5244.1	ENSP00000356194	Q9UGC6		UPI000000D76A				3/4		PROSITE_profiles:PS50132,hmmpanther:PTHR10845:SF175,hmmpanther:PTHR10845,Pfam_domain:PF00615,Gene3D:1.10.196.10,SMART_domains:SM00315,Superfamily_domains:SSF48097,Prints_domain:PR01301																	LOW	1	SNV	1			1										PASS		rs768032614	.												C	2	2	46	153024400	153024400	G	C	1	0	0	0	0	0	0	0	1	13470	1161	41	4		4	RGS17	6	153024400	Silent	SNP	G	C3N-00294_TP	1671116	153024400	17781579	519	14021											
FNDC1	0	.	GRCh38	chr6	159233716	159233716	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggatgctccccacggccctCcagaaccaggacgaggatgc	9	4	13	15	2	0	1	0	0	0	1	2	5	2	4	5	4	3	1	5	4	1	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3204C>T	p.=	p.L1068L	ENST00000297267	11/23	124	101	23	141	141	0	strelka-varscan-mutect	FNDC1,synonymous_variant,p.=,ENST00000297267,NM_032532.2;FNDC1,synonymous_variant,p.=,ENST00000329629,;	T	ENST00000297267	Transcript	synonymous_variant	3404/6552	3204/5685	1068/1894	L	ctC/ctT		1		1	FNDC1	HGNC	HGNC:21184	protein_coding	YES	CCDS47512.1	ENSP00000297267	Q4ZHG4		UPI0000579B80	NM_032532.2			11/23																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	159233716	159233716	C	T	1	0	0	0	0	0	0	0	1	5824	842	30	3		3	FNDC1	6	159233716	Silent	SNP	C	C3N-00294_TP	6209316	159233716	11572263	520	14022											
FRMD1	0	.	GRCh38	chr6	168078998	168078998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgactgcatgcaggcctctCaggactgggttccatacatc	8	10	10	13	0	1	1	1	1	1	0	4	2	2	2	2	3	3	3	2	3	1	2			C3N-00294_TP	C3N-00294_NB	C	C																c.97G>A	p.Glu33Lys	p.E33K	ENST00000283309	1/11	119	111	8	116	116	0	strelka-varscan-mutect	FRMD1,missense_variant,p.Glu33Lys,ENST00000283309,NM_024919.4;FRMD1,missense_variant,p.Glu75Lys,ENST00000511714,;FRMD1,upstream_gene_variant,,ENST00000440994,NM_001122841.2;FRMD1,missense_variant,p.Glu72Lys,ENST00000468647,;FRMD1,missense_variant,p.Glu72Lys,ENST00000509157,;FRMD1,non_coding_transcript_exon_variant,,ENST00000358587,;	T	ENST00000283309	Transcript	missense_variant	162/3067	97/1650	33/549	E/K	Gag/Aag	COSM4006207	1		-1	FRMD1	HGNC	HGNC:21240	protein_coding	YES	CCDS5306.1	ENSP00000283309	Q8N878		UPI000013F36A	NM_024919.4	tolerated_low_confidence(0.35)		1/11		hmmpanther:PTHR13429											1						MODERATE	1	SNV	1		1	1										PASS		rs1241837386	.												T	3	4	46	168078998	168078998	C	T	1	0	0	0	0	1	0	0	0	5919	835	29	3		3	FRMD1	6	168078998	Missense_Mutation	SNP	C	C3N-00294_TP	8845282	168078998	2726981	521	14023											
ADAP1	0	.	GRCh38	chr7	926597	926597	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtagaaggagggtactttGgactcaaacctggctctcgc	10	10	12	9	1	2	1	1	0	1	1	3	3	2	3	1	4	2	3	1	4	5	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.294C>G	p.=	p.S98S	ENST00000539900	3/11	144	108	36	87	87	0	strelka-varscan-mutect	ADAP1,synonymous_variant,p.=,ENST00000265846,NM_006869.3;ADAP1,synonymous_variant,p.=,ENST00000539900,NM_001284308.1;ADAP1,synonymous_variant,p.=,ENST00000611167,NM_001284309.1;ADAP1,synonymous_variant,p.=,ENST00000449296,NM_001284310.1;ADAP1,synonymous_variant,p.=,ENST00000446141,;ADAP1,synonymous_variant,p.=,ENST00000454383,;ADAP1,synonymous_variant,p.=,ENST00000453823,;ADAP1,synonymous_variant,p.=,ENST00000435943,;ADAP1,non_coding_transcript_exon_variant,,ENST00000463358,;ADAP1,non_coding_transcript_exon_variant,,ENST00000477906,;ADAP1,upstream_gene_variant,,ENST00000488527,;COX19,3_prime_UTR_variant,,ENST00000457254,;ADAP1,non_coding_transcript_exon_variant,,ENST00000495686,;	C	ENST00000539900	Transcript	synonymous_variant	294/2178	294/1158	98/385	S	tcC/tcG		1		-1	ADAP1	HGNC	HGNC:16486	protein_coding	YES	CCDS64577.1	ENSP00000442682	O75689		UPI0001AE701D	NM_001284308.1			3/11		PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF219,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	46	926597	926597	G	C	1	0	0	0	0	0	0	0	1	323	1335	47	4		4	ADAP1	7	926597	Silent	SNP	G	C3N-00294_TP		926597	158419376	522	14024											
MICALL2	0	.	GRCh38	chr7	1444702	1444702	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgctgagagggcctgcttGaggaagttccgcgcctgctc	6	8	15	12	3	0	2	0	2	0	1	2	4	1	3	3	2	3	4	3	2	1	2	rs141317918		C3N-00294_TP	C3N-00294_NB	G	G																c.1368C>T	p.=	p.L456L	ENST00000297508	6/17	445	349	96	307	306	1	strelka-varscan-mutect	MICALL2,synonymous_variant,p.=,ENST00000297508,NM_182924.3;MICALL2,synonymous_variant,p.=,ENST00000413446,;MICALL2,non_coding_transcript_exon_variant,,ENST00000472100,;MICALL2,upstream_gene_variant,,ENST00000467394,;MICALL2,upstream_gene_variant,,ENST00000479007,;MICALL2,upstream_gene_variant,,ENST00000487156,;MICALL2,downstream_gene_variant,,ENST00000482839,;MICALL2,upstream_gene_variant,,ENST00000467783,;MICALL2,downstream_gene_variant,,ENST00000490608,;	A	ENST00000297508	Transcript	synonymous_variant	1544/3121	1368/2715	456/904	L	ctC/ctT	rs141317918	1		-1	MICALL2	HGNC	HGNC:29672	protein_coding	YES	CCDS5324.1	ENSP00000297508	Q8IY33		UPI00000742E0	NM_182924.3			6/17																			LOW	1	SNV	1			1										PASS		rs141317918	.												A	2	1	46	1444702	1444702	G	A	1	0	0	0	0	0	0	0	1	9531	1277	45	3		3	MICALL2	7	1444702	Silent	SNP	G	C3N-00294_TP	518105	1444702	157901271	523	14025											
MAFK	0	.	GRCh38	chr7	1540015	1540015	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatgtcggtgcgggagctGaaccagcacctgcggggtct	6	8	15	12	3	1	1	0	1	1	0	3	2	2	2	3	4	5	2	3	4	1	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.111G>C	p.=	p.L37L	ENST00000343242	3/3	260	230	30	154	153	1	strelka-varscan-mutect	MAFK,synonymous_variant,p.=,ENST00000343242,NM_002360.3;MAFK,synonymous_variant,p.=,ENST00000406174,;TMEM184A,downstream_gene_variant,,ENST00000297477,NM_001097620.1;TMEM184A,downstream_gene_variant,,ENST00000449955,;TMEM184A,downstream_gene_variant,,ENST00000421996,;MAFK,synonymous_variant,p.=,ENST00000403150,;TMEM184A,downstream_gene_variant,,ENST00000319018,;	C	ENST00000343242	Transcript	synonymous_variant	340/3368	111/471	37/156	L	ctG/ctC		1		1	MAFK	HGNC	HGNC:6782	protein_coding	YES	CCDS5325.1	ENSP00000344903	O60675	A0A024R804	UPI000012EB23	NM_002360.3			3/3		hmmpanther:PTHR10129,Pfam_domain:PF03131,Gene3D:1.10.880.10,Superfamily_domains:SSF47454																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	46	1540015	1540015	G	C	1	0	0	0	0	0	0	0	1	9077	1277	45	4		4	MAFK	7	1540015	Silent	SNP	G	C3N-00294_TP	95313	1540015	157805958	524	14026											
TNRC18	0	.	GRCh38	chr7	5376125	5376125	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgcaggaagtgctgctgtGagaagagctgcagctgctgg	8	7	17	9	1	0	2	0	1	0	2	0	4	0	3	1	2	6	7	1	2	2	0			C3N-00294_TP	C3N-00294_NB	G	G																c.2708C>G	p.Ser903Ter	p.S903*	ENST00000430969	9/30	232	203	29	138	138	0	strelka-varscan-mutect	TNRC18,stop_gained,p.Ser903Ter,ENST00000399537,;TNRC18,stop_gained,p.Ser903Ter,ENST00000430969,NM_001080495.2;TNRC18,stop_gained,p.Ser305Ter,ENST00000413081,;	C	ENST00000430969	Transcript	stop_gained	3057/10562	2708/8907	903/2968	S/*	tCa/tGa	COSM3833020,COSM3833021	1		-1	TNRC18	HGNC	HGNC:11962	protein_coding	YES	CCDS47534.1	ENSP00000395538	O15417		UPI00016632FD	NM_001080495.2			9/30		hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF21,Low_complexity_(Seg):seg											1,1						HIGH	1	SNV	5		1,1	1										PASS		.	.												C	4	2	46	5376125	5376125	G	C	1	0	0	0	0	0	1	0	0	16812	1294	45	4		4	TNRC18	7	5376125	Nonsense_Mutation	SNP	G	C3N-00294_TP	3836110	5376125	153969848	525	14027											
PHF14	0	.	GRCh38	chr7	10982873	10982873	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgaatgacatggatgActatgacagtgaggatgaca	15	8	13	5	0	0	7	0	6	0	1	0	9	0	9	0	2	1	1	0	2	2	1	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.614A>T	p.Asp205Val	p.D205V	ENST00000403050	3/17	456	360	96	340	340	0	strelka-varscan-mutect	PHF14,missense_variant,p.Asp205Val,ENST00000403050,NM_014660.3;PHF14,missense_variant,p.Asp205Val,ENST00000634607,;PHF14,intron_variant,,ENST00000476009,;PHF14,non_coding_transcript_exon_variant,,ENST00000490957,;PHF14,intron_variant,,ENST00000423760,;PHF14,intron_variant,,ENST00000521747,;	T	ENST00000403050	Transcript	missense_variant	1066/4276	614/2667	205/888	D/V	gAc/gTc		1		1	PHF14	HGNC	HGNC:22203	protein_coding	YES	CCDS47542.1	ENSP00000385795	O94880		UPI000020EB41	NM_014660.3	deleterious_low_confidence(0)		3/17		Low_complexity_(Seg):seg,hmmpanther:PTHR13793																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	10982873	10982873	A	T	1	0	0	0	0	1	0	0	0	11914	275	10	4		4	PHF14	7	10982873	Missense_Mutation	SNP	A	C3N-00294_TP	5606748	10982873	148363100	526	14028											
AGR3	0	.	GRCh38	chr7	16862011	16862011	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttagcatgatgaacttattCtgagccatttcttgtatttc	9	19	6	7	0	2	3	0	3	2	0	3	3	2	3	1	0	3	2	1	0	4	8	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.276G>C	p.Gln92His	p.Q92H	ENST00000310398	5/8	101	91	10	107	107	0	strelka-varscan-mutect	AGR3,missense_variant,p.Gln92His,ENST00000310398,NM_176813.4;AGR3,missense_variant,p.Gln92His,ENST00000402239,;AGR3,missense_variant,p.Gln71His,ENST00000414935,;RAD17P1,downstream_gene_variant,,ENST00000418130,;	G	ENST00000310398	Transcript	missense_variant	347/749	276/501	92/166	Q/H	caG/caC		1		-1	AGR3	HGNC	HGNC:24167	protein_coding	YES	CCDS5365.1	ENSP00000308606	Q8TD06		UPI0000040D21	NM_176813.4	tolerated(0.76)		5/8		hmmpanther:PTHR15337:SF5,hmmpanther:PTHR15337,Pfam_domain:PF13899,Gene3D:3.40.30.10,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	16862011	16862011	C	G	1	0	0	0	0	1	0	0	0	475	912	32	4		4	AGR3	7	16862011	Missense_Mutation	SNP	C	C3N-00294_TP	5879138	16862011	142483962	527	14029											
ITGB8	0	.	GRCh38	chr7	20367082	20367082	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaataagcaaaggctgctCagttgattcaatagaatacc	15	12	7	7	0	2	2	2	1	0	1	2	2	2	2	1	1	3	4	1	1	7	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.284C>G	p.Ser95Ter	p.S95*	ENST00000222573	3/14	300	256	44	257	257	0	strelka-varscan-mutect	ITGB8,stop_gained,p.Ser95Ter,ENST00000222573,NM_002214.2;ITGB8,5_prime_UTR_variant,,ENST00000537992,;ITGB8,non_coding_transcript_exon_variant,,ENST00000477859,;ITGB8,non_coding_transcript_exon_variant,,ENST00000478974,;	G	ENST00000222573	Transcript	stop_gained	968/8751	284/2310	95/769	S/*	tCa/tGa		1		1	ITGB8	HGNC	HGNC:6163	protein_coding	YES	CCDS5370.1	ENSP00000222573	P26012		UPI000012DA14	NM_002214.2			3/14		hmmpanther:PTHR10082:SF9,hmmpanther:PTHR10082,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00423,SMART_domains:SM00187,Superfamily_domains:SSF103575,Prints_domain:PR01186																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	46	20367082	20367082	C	G	1	0	0	0	0	0	1	0	0	7807	838	29	4		4	ITGB8	7	20367082	Nonsense_Mutation	SNP	C	C3N-00294_TP	3505071	20367082	138978891	528	14030											
IL6	0	.	GRCh38	chr7	22727451	22727451	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctccggcacaggcgccttCggtccagttgccttctccct	3	10	9	19	3	1	0	0	0	1	0	5	0	3	0	6	3	1	2	6	3	0	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.27C>T	p.=	p.F9F	ENST00000404625	3/6	379	331	48	320	319	1	strelka-varscan-mutect	IL6,synonymous_variant,p.=,ENST00000404625,;IL6,synonymous_variant,p.=,ENST00000258743,NM_000600.3;IL6,synonymous_variant,p.=,ENST00000406575,;IL6,synonymous_variant,p.=,ENST00000426291,;IL6,intron_variant,,ENST00000407492,NM_001318095.1;IL6,intron_variant,,ENST00000401630,;IL6,intron_variant,,ENST00000401651,;AC073072.5,intron_variant,,ENST00000325042,;IL6,non_coding_transcript_exon_variant,,ENST00000485300,;IL6,upstream_gene_variant,,ENST00000464710,;	T	ENST00000404625	Transcript	synonymous_variant	486/1527	27/639	9/212	F	ttC/ttT		1		1	IL6	HGNC	HGNC:6018	protein_coding	YES	CCDS5375.1	ENSP00000385675	P05231	Q75MH2	UPI000002C4A6				3/6		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11457:SF0,hmmpanther:PTHR11457,PIRSF_domain:PIRSF001935																	LOW		SNV	5			1										PASS		.	.												T	2	4	46	22727451	22727451	C	T	1	0	0	0	0	0	0	0	1	7605	883	31	1		1	IL6	7	22727451	Silent	SNP	C	C3N-00294_TP	2360369	22727451	136618522	529	14031											
GPNMB	0	.	GRCh38	chr7	23256996	23256996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatcataacgtcttccctGatgggaaaccttttcctcac	9	12	6	14	1	3	1	2	1	1	0	5	2	5	2	4	1	2	0	4	1	2	4			C3N-00294_TP	C3N-00294_NB	G	G																c.472G>A	p.Asp158Asn	p.D158N	ENST00000381990	4/11	538	461	77	383	383	0	strelka-varscan-mutect	GPNMB,missense_variant,p.Asp158Asn,ENST00000258733,NM_002510.2;GPNMB,missense_variant,p.Asp158Asn,ENST00000381990,NM_001005340.1;GPNMB,missense_variant,p.Asp158Asn,ENST00000409458,;GPNMB,non_coding_transcript_exon_variant,,ENST00000465673,;GPNMB,non_coding_transcript_exon_variant,,ENST00000492858,;GPNMB,downstream_gene_variant,,ENST00000459927,;GPNMB,downstream_gene_variant,,ENST00000487890,;GPNMB,downstream_gene_variant,,ENST00000492512,;	A	ENST00000381990	Transcript	missense_variant	633/2763	472/1719	158/572	D/N	Gat/Aat	COSM1312973,COSM746402	1		1	GPNMB	HGNC	HGNC:4462	protein_coding	YES	CCDS34610.1	ENSP00000371420	Q14956		UPI000007158E	NM_001005340.1	deleterious(0.02)		4/11		hmmpanther:PTHR11861,hmmpanther:PTHR11861:SF11											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1236146268	.												A	3	1	46	23256996	23256996	G	A	1	0	0	0	0	1	0	0	0	6522	1290	45	3		3	GPNMB	7	23256996	Missense_Mutation	SNP	G	C3N-00294_TP	529545	23256996	136088977	530	14032											
IGF2BP3	0	.	GRCh38	chr7	23470064	23470064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagatactttctaggtccGagggggcggcgttctcgctg	6	11	15	9	4	2	2	0	1	2	1	4	3	3	2	1	4	1	2	1	4	3	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.47C>T	p.Ser16Leu	p.S16L	ENST00000258729	1/15	199	171	28	101	101	0	strelka-varscan-mutect	IGF2BP3,missense_variant,p.Ser16Leu,ENST00000258729,NM_006547.2;IGF2BP3,upstream_gene_variant,,ENST00000491719,;IGF2BP3,upstream_gene_variant,,ENST00000468263,;IGF2BP3,missense_variant,p.Ser16Leu,ENST00000421467,;IGF2BP3,non_coding_transcript_exon_variant,,ENST00000468005,;IGF2BP3,upstream_gene_variant,,ENST00000476938,;	A	ENST00000258729	Transcript	missense_variant	404/4250	47/1740	16/579	S/L	tCg/tTg		1		-1	IGF2BP3	HGNC	HGNC:28868	protein_coding	YES	CCDS5382.1	ENSP00000258729	O00425		UPI0000117172	NM_006547.2	tolerated(0.2)		1/15		PROSITE_profiles:PS50102,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	23470064	23470064	G	A	1	0	0	0	0	1	0	0	0	7481	1059	37	1		1	IGF2BP3	7	23470064	Missense_Mutation	SNP	G	C3N-00294_TP	213068	23470064	135875909	531	14033											
MPP6	0	.	GRCh38	chr7	24663699	24663699	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattcttcagattgtaaataGagaagatccaaattggtggc	14	12	10	5	0	2	3	1	0	1	3	3	5	3	3	1	2	0	1	1	2	5	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.761G>C	p.Arg254Thr	p.R254T	ENST00000222644	6/12	179	156	23	258	258	0	strelka-varscan-mutect	MPP6,missense_variant,p.Arg254Thr,ENST00000222644,NM_001303037.1,NM_016447.3;MPP6,missense_variant,p.Arg254Thr,ENST00000396475,;MPP6,missense_variant,p.Arg142Thr,ENST00000409761,;MPP6,missense_variant,p.Arg254Thr,ENST00000430180,;MPP6,non_coding_transcript_exon_variant,,ENST00000472674,;MPP6,upstream_gene_variant,,ENST00000464384,;	C	ENST00000222644	Transcript	missense_variant	1011/8452	761/1623	254/540	R/T	aGa/aCa		1		1	MPP6	HGNC	HGNC:18167	protein_coding	YES	CCDS5388.1	ENSP00000222644	Q9NZW5	A0A024RA25	UPI0000001C1B	NM_001303037.1,NM_016447.3	tolerated(0.23)		6/12		Gene3D:2.30.30.40,Pfam_domain:PF07653,PROSITE_profiles:PS50002,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF44,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	24663699	24663699	G	C	1	0	0	0	0	1	0	0	0	9704	942	33	4		4	MPP6	7	24663699	Missense_Mutation	SNP	G	C3N-00294_TP	1193635	24663699	134682274	532	14034											
HNRNPA2B1	0	.	GRCh38	chr7	26197356	26197356	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctcaactactctcccatCaattgaatgaggtcttgcag	10	12	8	11	0	4	2	2	2	2	0	5	2	4	2	1	2	3	2	1	2	4	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.259G>C	p.Asp87His	p.D87H	ENST00000354667	4/12	142	119	23	88	88	0	strelka-varscan-mutect	HNRNPA2B1,missense_variant,p.Asp87His,ENST00000354667,NM_031243.2;HNRNPA2B1,missense_variant,p.Asp87His,ENST00000618183,;HNRNPA2B1,missense_variant,p.Asp75His,ENST00000356674,NM_002137.3;CBX3,upstream_gene_variant,,ENST00000337620,NM_007276.4;CBX3,upstream_gene_variant,,ENST00000396386,NM_016587.3;CBX3,upstream_gene_variant,,ENST00000409747,;CBX3,upstream_gene_variant,,ENST00000456948,;HNRNPA2B1,missense_variant,p.Asp87His,ENST00000360787,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000463181,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000490912,;HNRNPA2B1,upstream_gene_variant,,ENST00000495810,;	G	ENST00000354667	Transcript	missense_variant	428/3664	259/1062	87/353	D/H	Gat/Cat		1		-1	HNRNPA2B1	HGNC	HGNC:5033	protein_coding	YES	CCDS43557.1	ENSP00000346694	P22626		UPI000002F091	NM_031243.2	deleterious(0)		4/12		Gene3D:3.30.70.330,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF392,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	26197356	26197356	C	G	1	0	0	0	0	1	0	0	0	7150	826	29	4		4	HNRNPA2B1	7	26197356	Missense_Mutation	SNP	C	C3N-00294_TP	1533657	26197356	133148617	533	14035											
HIBADH	0	.	GRCh38	chr7	27662763	27662763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accggagaccggaggcagctCcgaggagccgtaaggaggct	10	3	17	11	4	0	1	0	0	0	1	1	6	1	4	4	6	2	4	4	6	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.26G>T	p.Gly9Val	p.G9V	ENST00000265395	1/8	110	67	43	69	69	0	strelka-mutect	HIBADH,missense_variant,p.Gly9Val,ENST00000265395,NM_152740.3;HIBADH,missense_variant,p.Gly9Val,ENST00000428288,;HIBADH,non_coding_transcript_exon_variant,,ENST00000496814,;	A	ENST00000265395	Transcript	missense_variant	233/1990	26/1011	9/336	G/V	gGa/gTa		1		-1	HIBADH	HGNC	HGNC:4907	protein_coding	YES	CCDS5414.1	ENSP00000265395	P31937	A0A024RA75	UPI000000160A	NM_152740.3	tolerated_low_confidence(0.12)		1/8		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	27662763	27662763	C	A	1	0	0	0	0	1	0	0	0	6983	855	30	2		2	HIBADH	7	27662763	Missense_Mutation	SNP	C	C3N-00294_TP	1465407	27662763	131683210	534	14036											
TRIL	0	.	GRCh38	chr7	28955910	28955910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacgcccaggccgccaaggCcaggagcaccagcagcgcgt	10	1	14	16	4	0	1	0	0	0	1	0	2	0	2	5	3	3	2	5	3	1	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2137G>T	p.Ala713Ser	p.A713S	ENST00000539664	1/1	374	275	99	266	266	0	strelka-varscan-mutect	TRIL,missense_variant,p.Ala713Ser,ENST00000539664,NM_014817.3;AC005013.5,upstream_gene_variant,,ENST00000436594,;	A	ENST00000539664	Transcript	missense_variant	2383/4935	2137/2436	713/811	A/S	Gcc/Tcc		1		-1	TRIL	HGNC	HGNC:22200	protein_coding	YES	CCDS75573.1	ENSP00000479256	Q7L0X0		UPI00005C3DAC	NM_014817.3	tolerated(0.28)		1/1		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF263,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												A	3	1	46	28955910	28955910	C	A	1	0	0	0	0	1	0	0	0	16974	739	26	2		2	TRIL	7	28955910	Missense_Mutation	SNP	C	C3N-00294_TP	1293147	28955910	130390063	535	14037											
TRIL	0	.	GRCh38	chr7	28957744	28957744	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcgagagcttctcgaaggtCttggggtgcagagagcggat	8	8	17	8	4	2	2	0	0	2	2	3	6	2	3	0	4	3	2	0	4	1	2	rs766065735		C3N-00294_TP	C3N-00294_NB	C	C																c.303G>C	p.Lys101Asn	p.K101N	ENST00000539664	1/1	368	313	55	264	264	0	strelka-varscan-mutect	TRIL,missense_variant,p.Lys101Asn,ENST00000539664,NM_014817.3;AC005013.5,non_coding_transcript_exon_variant,,ENST00000436594,;	G	ENST00000539664	Transcript	missense_variant	549/4935	303/2436	101/811	K/N	aaG/aaC	rs766065735	1		-1	TRIL	HGNC	HGNC:22200	protein_coding	YES	CCDS75573.1	ENSP00000479256	Q7L0X0		UPI00005C3DAC	NM_014817.3	deleterious(0.03)		1/1		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF263,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE		SNV				1										PASS		rs766065735	.												G	3	3	46	28957744	28957744	C	G	1	0	0	0	0	1	0	0	0	16974	912	32	4		4	TRIL	7	28957744	Missense_Mutation	SNP	C	C3N-00294_TP	1834	28957744	130388229	536	14038											
ELMO1	0	.	GRCh38	chr7	37211489	37211489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcatcaaaagcaattcttCgaagttcaaatatgatgtcc	15	11	6	9	1	3	1	2	1	1	0	5	2	4	1	1	0	2	3	1	0	6	4			C3N-00294_TP	C3N-00294_NB	C	C																c.983G>A	p.Arg328Gln	p.R328Q	ENST00000310758	13/22	211	176	35	147	147	0	strelka-varscan-mutect	ELMO1,missense_variant,p.Arg328Gln,ENST00000310758,NM_001206480.2,NM_014800.10;ELMO1,missense_variant,p.Arg328Gln,ENST00000442504,NM_001206482.1;ELMO1,missense_variant,p.Arg328Gln,ENST00000448602,;ELMO1,missense_variant,p.Arg69Gln,ENST00000424212,;ELMO1,missense_variant,p.Arg108Gln,ENST00000433246,;ELMO1,missense_variant,p.Arg66Gln,ENST00000420636,;ELMO1,non_coding_transcript_exon_variant,,ENST00000487336,;	T	ENST00000310758	Transcript	missense_variant	1631/4022	983/2184	328/727	R/Q	cGa/cAa	COSM3229019	1		-1	ELMO1	HGNC	HGNC:16286	protein_coding	YES	CCDS5449.1	ENSP00000312185	Q92556	A4D1X5	UPI000006F687	NM_001206480.2,NM_014800.10	deleterious(0)		13/22		Pfam_domain:PF04727,PROSITE_profiles:PS51335,hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF23											1						MODERATE	1	SNV	1		1	1										PASS		rs1174488092	.												T	3	4	46	37211489	37211489	C	T	1	0	0	0	0	1	0	0	0	4899	884	31	1		1	ELMO1	7	37211489	Missense_Mutation	SNP	C	C3N-00294_TP	8253745	37211489	122134484	537	14039											
SFRP4	0	.	GRCh38	chr7	37912210	37912210	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgtaatgagcgggacttGagttcgagggatgggtgatg	9	12	17	3	2	0	3	0	3	0	0	1	6	0	5	0	3	1	2	0	3	1	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.700C>T	p.Gln234Ter	p.Q234*	ENST00000436072	4/6	220	191	29	187	187	0	strelka-varscan-mutect	SFRP4,stop_gained,p.Gln234Ter,ENST00000436072,NM_003014.3;SFRP4,stop_gained,p.Gln100Ter,ENST00000447200,;EPDR1,intron_variant,,ENST00000476620,;SFRP4,upstream_gene_variant,,ENST00000478975,;	A	ENST00000436072	Transcript	stop_gained	1078/2966	700/1041	234/346	Q/*	Caa/Taa		1		-1	SFRP4	HGNC	HGNC:10778	protein_coding	YES	CCDS5453.1	ENSP00000410715	Q6FHJ7		UPI000004ECBF	NM_003014.3			4/6		PROSITE_profiles:PS50189,hmmpanther:PTHR11309:SF7,hmmpanther:PTHR11309,Gene3D:2.40.50.120,Pfam_domain:PF01759,SMART_domains:SM00643,Superfamily_domains:SSF50242																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	46	37912210	37912210	G	A	1	0	0	0	0	0	1	0	0	14442	1299	45	3		3	SFRP4	7	37912210	Nonsense_Mutation	SNP	G	C3N-00294_TP	700721	37912210	121433763	538	14040											
VPS41	0	.	GRCh38	chr7	38830329	38830329	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttatcttcacaggactCtaaaaagaaaaagacaaaaa	21	9	5	6	0	3	3	1	1	2	2	3	4	3	4	0	1	0	0	0	1	8	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.247-1G>T		p.X83_splice	ENST00000310301		186	132	54	146	145	1	strelka-varscan-mutect	VPS41,splice_acceptor_variant,,ENST00000310301,NM_014396.3;VPS41,splice_acceptor_variant,,ENST00000413141,;VPS41,splice_acceptor_variant,,ENST00000414632,;VPS41,splice_acceptor_variant,,ENST00000418457,;VPS41,splice_acceptor_variant,,ENST00000457055,;VPS41,intron_variant,,ENST00000395969,NM_080631.3;VPS41,splice_acceptor_variant,,ENST00000265745,;	A	ENST00000310301	Transcript	splice_acceptor_variant	-/5903	247/2565	83/854				1		-1	VPS41	HGNC	HGNC:12713	protein_coding	YES	CCDS5457.1	ENSP00000309457	P49754		UPI000000DAB7	NM_014396.3				4/28																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	46	38830329	38830329	C	A	1	0	0	0	0	0	0	1	0	17756	927	32	2		2	VPS41	7	38830329	Splice_Site	SNP	C	C3N-00294_TP	918119	38830329	120515644	539	14041											
URGCP	0	.	GRCh38	chr7	43881161	43881161	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagacatggaataacttttTattttttaagtagcatggta	13	16	7	5	0	0	1	0	0	0	1	0	2	0	2	1	2	2	3	1	2	6	9	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.290A>G	p.=	p.*97*	ENST00000446958	5/5	147	102	45	105	105	0	varscan-mutect	URGCP,stop_retained_variant,p.=,ENST00000446958,;URGCP,intron_variant,,ENST00000336086,;URGCP,intron_variant,,ENST00000453200,NM_001077663.2;URGCP,intron_variant,,ENST00000443736,NM_001077664.2,NM_001290075.1,NM_001290076.1;URGCP,intron_variant,,ENST00000402306,NM_017920.4;URGCP,intron_variant,,ENST00000426198,;URGCP-MRPS24,intron_variant,,ENST00000603700,NM_001204871.1;URGCP,intron_variant,,ENST00000439702,;URGCP,intron_variant,,ENST00000455877,;URGCP,intron_variant,,ENST00000497914,;URGCP,intron_variant,,ENST00000467410,;URGCP,intron_variant,,ENST00000474376,;	C	ENST00000446958	Transcript	stop_retained_variant	342/365	290/291	97/96	*	tAa/tGa		1		-1	URGCP	HGNC	HGNC:30890	protein_coding			ENSP00000409496		F8WDN0	UPI000198CD4E				5/5																			LOW		SNV	2			1										PASS		.	.												C	2	2	46	43881161	43881161	T	C	1	0	0	0	0	0	0	0	1	17556	1761	61	5		5	URGCP	7	43881161	Silent	SNP	T	C3N-00294_TP	5050832	43881161	115464812	540	14042											
SPDYE1	0	.	GRCh38	chr7	44002769	44002769	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctgaagcgacggcgaGtgtcgctcgtgctccctgag	7	8	15	11	5	0	3	0	3	0	0	3	5	1	3	1	1	3	3	1	1	2	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.439G>C	p.Val147Leu	p.V147L	ENST00000258704	2/7	254	220	34	183	183	0	varscan-mutect	SPDYE1,missense_variant,p.Val147Leu,ENST00000258704,NM_175064.2;AC004951.6,downstream_gene_variant,,ENST00000447643,;POLR2J4,intron_variant,,ENST00000427076,;RP5-1165K10.2,intron_variant,,ENST00000454572,;POLR2J4,intron_variant,,ENST00000422304,;	C	ENST00000258704	Transcript	missense_variant	576/2649	439/1011	147/336	V/L	Gtg/Ctg		1		1	SPDYE1	HGNC	HGNC:16408	protein_coding	YES	CCDS5475.1	ENSP00000258704	Q8NFV5		UPI000013CFF7	NM_175064.2	tolerated(0.32)		2/7		hmmpanther:PTHR31156,hmmpanther:PTHR31156:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	44002769	44002769	G	C	1	0	0	0	0	1	0	0	0	15376	1029	36	4		4	SPDYE1	7	44002769	Missense_Mutation	SNP	G	C3N-00294_TP	121608	44002769	115343204	541	14043											
PGAM2	0	.	GRCh38	chr7	44065269	44065269	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccccgtaatgccgctcattGaggcgccaagtgcgcaccac	8	6	10	17	4	1	1	1	1	0	0	1	1	1	1	5	1	2	3	5	1	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.261C>T	p.=	p.L87L	ENST00000297283	1/3	957	802	155	662	662	0	strelka-varscan-mutect	PGAM2,synonymous_variant,p.=,ENST00000297283,NM_000290.3;DBNL,3_prime_UTR_variant,,ENST00000432854,;DBNL,downstream_gene_variant,,ENST00000494774,NM_014063.6;DBNL,downstream_gene_variant,,ENST00000468694,NM_001122956.1;DBNL,downstream_gene_variant,,ENST00000490734,NM_001284315.1;DBNL,downstream_gene_variant,,ENST00000448521,NM_001014436.2;DBNL,downstream_gene_variant,,ENST00000452943,;DBNL,downstream_gene_variant,,ENST00000440166,NM_001284313.1;DBNL,downstream_gene_variant,,ENST00000456905,;DBNL,downstream_gene_variant,,ENST00000452661,;AC017116.11,non_coding_transcript_exon_variant,,ENST00000445938,;AC017116.11,non_coding_transcript_exon_variant,,ENST00000425727,;DBNL,downstream_gene_variant,,ENST00000497184,;DBNL,downstream_gene_variant,,ENST00000449997,;DBNL,downstream_gene_variant,,ENST00000441840,;DBNL,downstream_gene_variant,,ENST00000429716,;DBNL,downstream_gene_variant,,ENST00000411855,;DBNL,downstream_gene_variant,,ENST00000498733,;	A	ENST00000297283	Transcript	synonymous_variant	319/857	261/762	87/253	L	ctC/ctT		1		-1	PGAM2	HGNC	HGNC:8889	protein_coding	YES	CCDS34624.1	ENSP00000297283	P15259		UPI000013E3E8	NM_000290.3			1/3		Gene3D:3.40.50.1240,HAMAP:MF_01039,Pfam_domain:PF00300,hmmpanther:PTHR11931,hmmpanther:PTHR11931:SF8,SMART_domains:SM00855,Superfamily_domains:SSF53254,TIGRFAM_domain:TIGR01258																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	44065269	44065269	G	A	1	0	0	0	0	0	0	0	1	11864	1277	45	3		3	PGAM2	7	44065269	Silent	SNP	G	C3N-00294_TP	62500	44065269	115280704	542	14044											
AEBP1	0	.	GRCh38	chr7	44112198	44112198	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgaggagggctttgacatCtttgaagatttcccggatct	9	13	11	8	1	2	4	0	3	2	1	3	6	3	6	1	3	0	1	1	3	1	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2094C>G	p.Ile698Met	p.I698M	ENST00000223357	17/21	92	73	19	92	92	0	strelka-varscan-mutect	AEBP1,missense_variant,p.Ile698Met,ENST00000223357,NM_001129.4;AEBP1,missense_variant,p.Ile273Met,ENST00000450684,;POLD2,downstream_gene_variant,,ENST00000406581,NM_001256879.1;POLD2,downstream_gene_variant,,ENST00000452185,NM_001127218.2;POLD2,downstream_gene_variant,,ENST00000610533,NM_006230.3;POLD2,downstream_gene_variant,,ENST00000223361,;POLD2,downstream_gene_variant,,ENST00000436844,;POLD2,downstream_gene_variant,,ENST00000433715,;AEBP1,downstream_gene_variant,,ENST00000455443,;AEBP1,downstream_gene_variant,,ENST00000449162,;POLD2,downstream_gene_variant,,ENST00000436400,;AEBP1,downstream_gene_variant,,ENST00000582839,;AEBP1,downstream_gene_variant,,ENST00000454218,;AEBP1,splice_region_variant,,ENST00000413907,;AEBP1,3_prime_UTR_variant,,ENST00000431035,;POLD2,downstream_gene_variant,,ENST00000463464,;POLD2,downstream_gene_variant,,ENST00000470867,;AEBP1,downstream_gene_variant,,ENST00000453052,;AEBP1,downstream_gene_variant,,ENST00000434445,;POLD2,downstream_gene_variant,,ENST00000481104,;POLD2,downstream_gene_variant,,ENST00000489883,;	G	ENST00000223357	Transcript	missense_variant	2399/4081	2094/3477	698/1158	I/M	atC/atG		1		1	AEBP1	HGNC	HGNC:303	protein_coding	YES	CCDS5476.1	ENSP00000223357	Q8IUX7		UPI00000746E2	NM_001129.4	tolerated(0.07)		17/21		Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF48,SMART_domains:SM00631,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	44112198	44112198	C	G	1	0	0	0	0	1	0	0	0	424	903	32	4		4	AEBP1	7	44112198	Missense_Mutation	SNP	C	C3N-00294_TP	46929	44112198	115233775	543	14045											
YKT6	0	.	GRCh38	chr7	44207453	44207453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtaggatcccctgctacaatCcattacccagccctggatgg	9	9	9	14	0	0	0	0	0	0	0	2	2	2	2	5	3	4	2	5	3	4	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.354C>G	p.Ile118Met	p.I118M	ENST00000223369	4/7	332	296	36	256	256	0	strelka-varscan-mutect	YKT6,missense_variant,p.Ile118Met,ENST00000223369,NM_006555.3;YKT6,missense_variant,p.Ile118Met,ENST00000496112,;YKT6,non_coding_transcript_exon_variant,,ENST00000447123,;YKT6,upstream_gene_variant,,ENST00000478411,;YKT6,non_coding_transcript_exon_variant,,ENST00000463014,;YKT6,upstream_gene_variant,,ENST00000421621,;YKT6,upstream_gene_variant,,ENST00000424864,;	G	ENST00000223369	Transcript	missense_variant	441/2696	354/597	118/198	I/M	atC/atG		1		1	YKT6	HGNC	HGNC:16959	protein_coding	YES	CCDS5482.1	ENSP00000223369	O15498	A4D2J0	UPI000004D0E4	NM_006555.3	deleterious(0.04)		4/7		Gene3D:3.30.450.50,hmmpanther:PTHR21136,hmmpanther:PTHR21136:SF5,SMART_domains:SM01270,Superfamily_domains:SSF64356																	MODERATE	1	SNV	1			1										PASS		rs1337109022	.												G	3	3	46	44207453	44207453	C	G	1	0	0	0	0	1	0	0	0	18047	845	30	4		4	YKT6	7	44207453	Missense_Mutation	SNP	C	C3N-00294_TP	95255	44207453	115138520	544	14046											
NPC1L1	0	.	GRCh38	chr7	44516868	44516868	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgaaggtgggcacaaggcaGaggctgagcatgaagagccc	12	3	17	9	1	0	4	0	2	0	2	0	5	0	4	1	4	2	4	1	4	3	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3435C>G	p.=	p.L1145L	ENST00000289547	17/20	425	351	74	307	307	0	strelka-varscan-mutect	NPC1L1,synonymous_variant,p.=,ENST00000289547,NM_013389.2;NPC1L1,synonymous_variant,p.=,ENST00000546276,;NPC1L1,synonymous_variant,p.=,ENST00000381160,NM_001101648.1;	C	ENST00000289547	Transcript	synonymous_variant	3491/5048	3435/4080	1145/1359	L	ctC/ctG		1		-1	NPC1L1	HGNC	HGNC:7898	protein_coding	YES	CCDS5491.1	ENSP00000289547	Q9UHC9		UPI000013DF88	NM_013389.2			17/20		Transmembrane_helices:TMhelix,hmmpanther:PTHR10796:SF89,hmmpanther:PTHR10796,Pfam_domain:PF02460,Gene3D:2j8sB01,Superfamily_domains:SSF82866																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	46	44516868	44516868	G	C	1	0	0	0	0	0	0	0	1	10619	929	33	4		4	NPC1L1	7	44516868	Silent	SNP	G	C3N-00294_TP	309415	44516868	114829105	545	14047											
ABCA13	0	.	GRCh38	chr7	48281387	48281387	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagcagactgtgaagccctCagaagccatggagatgctgc	11	6	12	12	0	1	4	1	1	0	3	1	5	1	4	3	1	5	2	3	1	2	0			C3N-00294_TP	C3N-00294_NB	C	C																c.8771C>G	p.Ser2924Ter	p.S2924*	ENST00000435803	19/62	298	255	43	251	251	0	strelka-varscan-mutect	ABCA13,stop_gained,p.Ser2924Ter,ENST00000435803,NM_152701.4;ABCA13,stop_gained,p.Ser231Ter,ENST00000544596,;ABCA13,non_coding_transcript_exon_variant,,ENST00000611776,;	G	ENST00000435803	Transcript	stop_gained	8795/17184	8771/15177	2924/5058	S/*	tCa/tGa	COSM5046672,COSM5046673	1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4			19/62													1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												G	4	3	46	48281387	48281387	C	G	1	0	0	0	0	0	1	0	0	35	838	29	4		4	ABCA13	7	48281387	Nonsense_Mutation	SNP	C	C3N-00294_TP	3764519	48281387	111064586	546	14048											
C7orf72	0	.	GRCh38	chr7	50159118	50159118	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcgactggtcacaactgtGagaccctacaaccctttcaa	11	10	6	14	1	3	1	2	1	1	1	4	3	3	1	2	1	3	0	2	1	4	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1266G>C	p.=	p.V422V	ENST00000297001	9/9	327	287	40	229	229	0	strelka-varscan-mutect	C7orf72,synonymous_variant,p.=,ENST00000297001,NM_001161834.2;	C	ENST00000297001	Transcript	synonymous_variant	1316/2028	1266/1317	422/438	V	gtG/gtC		1		1	C7orf72	HGNC	HGNC:22564	protein_coding	YES	CCDS47585.1	ENSP00000297001	A4D263		UPI00001D7424	NM_001161834.2			9/9		hmmpanther:PTHR34759,Pfam_domain:PF15073																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	46	50159118	50159118	G	C	1	0	0	0	0	0	0	0	1	2147	1277	45	4		4	C7orf72	7	50159118	Silent	SNP	G	C3N-00294_TP	1877731	50159118	109186855	547	14049											
POM121	0	.	GRCh38	chr7	72929971	72929971	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagagaggcctcaattctCagagctcagatgaccacttg	12	9	10	10	0	3	5	3	2	1	3	4	6	3	5	2	1	1	1	2	1	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.340C>G	p.Gln114Glu	p.Q114E	ENST00000395270	8/16	117	98	19	71	71	0	strelka-varscan-mutect	POM121,missense_variant,p.Gln114Glu,ENST00000395270,NM_001257190.2;POM121,missense_variant,p.Gln114Glu,ENST00000627934,NM_172020.4;POM121,missense_variant,p.Gln114Glu,ENST00000358357,;POM121,missense_variant,p.Gln379Glu,ENST00000434423,;POM121,missense_variant,p.Gln114Glu,ENST00000446813,;RP11-313P13.5,upstream_gene_variant,,ENST00000608799,;	G	ENST00000395270	Transcript	missense_variant	1381/7011	340/3000	114/999	Q/E	Cag/Gag		1		1	POM121	HGNC	HGNC:19702	protein_coding	YES	CCDS59059.1	ENSP00000378687	Q96HA1		UPI000013DA6B	NM_001257190.2	deleterious(0.02)		8/16		Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	72929971	72929971	C	G	1	0	0	0	0	1	0	0	0	12350	827	29	4		4	POM121	7	72929971	Missense_Mutation	SNP	C	C3N-00294_TP	22770853	72929971	86416002	548	14050											
WBSCR27	0	.	GRCh38	chr7	73842110	73842110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgacccgcgcccgcacctCgggcaggctcccaccctcct	4	5	9	23	4	0	1	0	1	0	0	3	1	2	1	7	2	0	3	7	2	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.31G>A	p.Glu11Lys	p.E11K	ENST00000297873	2/6	254	216	38	184	184	0	strelka-varscan-mutect	WBSCR27,missense_variant,p.Glu11Lys,ENST00000297873,NM_152559.2;WBSCR27,missense_variant,p.Glu11Lys,ENST00000458679,;WBSCR27,non_coding_transcript_exon_variant,,ENST00000493174,;	T	ENST00000297873	Transcript	missense_variant	81/941	31/738	11/245	E/K	Gag/Aag		1		-1	WBSCR27	HGNC	HGNC:19068	protein_coding	YES	CCDS5561.1	ENSP00000297873	Q8N6F8		UPI000013E466	NM_152559.2	tolerated(0.09)		2/6		hmmpanther:PTHR10108,hmmpanther:PTHR10108:SF888																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	73842110	73842110	C	T	1	0	0	0	0	1	0	0	0	17825	893	31	1		1	WBSCR27	7	73842110	Missense_Mutation	SNP	C	C3N-00294_TP	912139	73842110	85503863	549	14051											
ELN	0	.	GRCh38	chr7	74056680	74056680	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttccttgtagccgaagctCaggcagcagctgccgccaag	8	8	12	13	2	1	0	1	0	0	0	2	1	2	0	4	1	5	6	4	1	3	3	rs137854452		C3N-00294_TP	C3N-00294_NB	C	C																c.1324C>G	p.Gln442Glu	p.Q442E	ENST00000358929	21/34	656	591	65	520	520	0	strelka-varscan-mutect	ELN,missense_variant,p.Gln442Glu,ENST00000358929,NM_001278939.1;ELN,missense_variant,p.Gln442Glu,ENST00000252034,NM_000501.3;ELN,missense_variant,p.Gln372Glu,ENST00000621115,NM_001278918.1;ELN,missense_variant,p.Gln447Glu,ENST00000357036,NM_001081754.2;ELN,missense_variant,p.Gln447Glu,ENST00000429192,NM_001081753.2;ELN,missense_variant,p.Gln428Glu,ENST00000380584,NM_001278916.1;ELN,missense_variant,p.Gln432Glu,ENST00000458204,NM_001278917.1;ELN,missense_variant,p.Gln437Glu,ENST00000414324,NM_001278914.1;ELN,missense_variant,p.Gln442Glu,ENST00000380576,NM_001081755.2;ELN,missense_variant,p.Gln432Glu,ENST00000380575,NM_001081752.2;ELN,missense_variant,p.Gln380Glu,ENST00000320492,NM_001278913.1;ELN,missense_variant,p.Gln325Glu,ENST00000380553,;ELN,missense_variant,p.Gln442Glu,ENST00000445912,NM_001278912.1;ELN,missense_variant,p.Gln442Glu,ENST00000320399,;ELN,missense_variant,p.Gln442Glu,ENST00000380562,NM_001278915.1;ELN,downstream_gene_variant,,ENST00000438906,;ELN,downstream_gene_variant,,ENST00000438880,;CTB-51J22.1,downstream_gene_variant,,ENST00000435932,;ELN,downstream_gene_variant,,ENST00000466878,;ELN,downstream_gene_variant,,ENST00000493839,;ELN,downstream_gene_variant,,ENST00000492210,;	G	ENST00000358929	Transcript	missense_variant	1723/3967	1324/2361	442/786	Q/E	Cag/Gag	rs137854452,CM970433	1		1	ELN	HGNC	HGNC:3327	protein_coding	YES	CCDS75616.1	ENSP00000351807		F8WAH6	UPI0001AE70FA	NM_001278939.1	tolerated_low_confidence(0.29)		21/34		hmmpanther:PTHR24018:SF4,hmmpanther:PTHR24018										pathogenic							MODERATE		SNV	5		1,1	1										PASS		rs137854452	.												G	3	3	46	74056680	74056680	C	G	1	0	0	0	0	1	0	0	0	4906	827	29	4		4	ELN	7	74056680	Missense_Mutation	SNP	C	C3N-00294_TP	214570	74056680	85289293	550	14052											
CLIP2	0	.	GRCh38	chr7	74376312	74376312	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagccaccctgaactcGggcccaggcgcccagcagaa	11	3	10	17	2	1	2	1	1	0	1	2	2	1	2	4	2	3	1	4	2	3	0	rs782158293		C3N-00294_TP	C3N-00294_NB	G	G																c.1911G>T	p.=	p.S637S	ENST00000223398	10/17	165	112	53	126	126	0	strelka-varscan-mutect	CLIP2,synonymous_variant,p.=,ENST00000223398,NM_003388.4;CLIP2,synonymous_variant,p.=,ENST00000361545,NM_032421.2;CLIP2,synonymous_variant,p.=,ENST00000395060,;CLIP2,upstream_gene_variant,,ENST00000493166,;CLIP2,non_coding_transcript_exon_variant,,ENST00000487091,;CLIP2,upstream_gene_variant,,ENST00000482424,;	T	ENST00000223398	Transcript	synonymous_variant	2238/5563	1911/3141	637/1046	S	tcG/tcT	rs782158293	1		1	CLIP2	HGNC	HGNC:2586	protein_coding	YES	CCDS5569.1	ENSP00000223398	Q9UDT6		UPI000007061E	NM_003388.4			10/17		hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF10																	LOW	1	SNV	5			1										PASS		rs782158293	.												T	2	4	46	74376312	74376312	G	T	1	0	0	0	0	0	0	0	1	3302	1103	39	1		1	CLIP2	7	74376312	Silent	SNP	G	C3N-00294_TP	319632	74376312	84969661	551	14053											
PCLO	0	.	GRCh38	chr7	82955702	82955702	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcgttgctgtttgctctCtccttttttgtgactcgggc	1	20	10	10	2	1	1	0	1	1	0	4	1	2	1	1	1	3	4	1	1	0	6	rs767901868		C3N-00294_TP	C3N-00294_NB	C	C																c.5251G>T	p.Glu1751Ter	p.E1751*	ENST00000333891	5/25	298	264	34	222	222	0	strelka-varscan-mutect	PCLO,stop_gained,p.Glu1751Ter,ENST00000333891,NM_033026.5;PCLO,stop_gained,p.Glu1751Ter,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	A	ENST00000333891	Transcript	stop_gained	5589/20329	5251/15429	1751/5142	E/*	Gag/Tag	rs767901868	1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5			5/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	HIGH	1	SNV	2			1										PASS		rs767901868	.												A	4	1	46	82955702	82955702	C	A	1	0	0	0	0	0	1	0	0	11671	922	32	2		2	PCLO	7	82955702	Nonsense_Mutation	SNP	C	C3N-00294_TP	8579390	82955702	76390271	552	14054											
SEMA3D	0	.	GRCh38	chr7	85121876	85121876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggctttaagtctttcatCtttattagcattcatgatga	9	19	6	7	0	5	2	2	2	3	0	5	2	5	2	0	1	1	2	0	1	3	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.16G>C	p.Asp6His	p.D6H	ENST00000284136	1/17	139	93	46	110	110	0	strelka-varscan-mutect	SEMA3D,missense_variant,p.Asp6His,ENST00000284136,NM_152754.2;SEMA3D,missense_variant,p.Asp6His,ENST00000444867,;	G	ENST00000284136	Transcript	missense_variant	60/6265	16/2334	6/777	D/H	Gat/Cat		1		-1	SEMA3D	HGNC	HGNC:10726	protein_coding	YES	CCDS34676.1	ENSP00000284136	O95025		UPI0000135A66	NM_152754.2	deleterious_low_confidence(0.03)		1/17																			MODERATE	1	SNV	1			1										PASS		rs751753248	.												G	3	3	46	85121876	85121876	C	G	1	0	0	0	0	1	0	0	0	14303	913	32	4		4	SEMA3D	7	85121876	Missense_Mutation	SNP	C	C3N-00294_TP	2166174	85121876	74224097	553	14055											
ABCB4	0	.	GRCh38	chr7	87418568	87418568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcagcatctgtggcaagtCttgtagaaagtgcaccagta	11	9	13	8	0	2	1	0	0	2	1	2	1	2	1	1	2	2	6	1	2	4	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2447G>A	p.Arg816Lys	p.R816K	ENST00000265723	20/28	575	502	73	443	443	0	strelka-varscan-mutect	ABCB4,missense_variant,p.Arg816Lys,ENST00000265723,NM_018849.2;ABCB4,missense_variant,p.Arg816Lys,ENST00000359206,NM_000443.3;ABCB4,missense_variant,p.Arg816Lys,ENST00000358400,NM_018850.2;ABCB4,missense_variant,p.Arg816Lys,ENST00000453593,;	T	ENST00000265723	Transcript	missense_variant	2559/4020	2447/3861	816/1286	R/K	aGa/aAa		1		-1	ABCB4	HGNC	HGNC:45	protein_coding	YES	CCDS5606.1	ENSP00000265723	P21439		UPI000013D66B	NM_018849.2	tolerated(0.08)		20/28		Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF241,Superfamily_domains:SSF90123																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	87418568	87418568	C	T	1	0	0	0	0	1	0	0	0	47	913	32	3		3	ABCB4	7	87418568	Missense_Mutation	SNP	C	C3N-00294_TP	2296692	87418568	71927405	554	14056											
AKAP9	0	.	GRCh38	chr7	92014290	92014290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgctcattggaaaacttCaaaaggcagtgtctgaagaa	15	10	9	7	0	4	2	2	1	2	1	4	3	4	3	0	2	2	2	0	2	6	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3574C>G	p.Gln1192Glu	p.Q1192E	ENST00000356239	10/50	287	240	47	290	290	0	strelka-varscan-mutect	AKAP9,missense_variant,p.Gln1192Glu,ENST00000356239,NM_005751.4,NM_147185.2;AKAP9,missense_variant,p.Gln1203Glu,ENST00000359028,;AKAP9,missense_variant,p.Gln1192Glu,ENST00000358100,;AKAP9,missense_variant,p.Gln1200Glu,ENST00000619023,;AKAP9,non_coding_transcript_exon_variant,,ENST00000493453,;	G	ENST00000356239	Transcript	missense_variant	3807/12471	3574/11724	1192/3907	Q/E	Caa/Gaa		1		1	AKAP9	HGNC	HGNC:379	protein_coding	YES	CCDS5622.1	ENSP00000348573	Q99996		UPI000002A38D	NM_005751.4,NM_147185.2	tolerated(0.24)		10/50																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	92014290	92014290	C	G	1	0	0	0	0	1	0	0	0	543	827	29	4		4	AKAP9	7	92014290	Missense_Mutation	SNP	C	C3N-00294_TP	4595722	92014290	67331683	555	14057											
AKAP9	0	.	GRCh38	chr7	92076894	92076894	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattagaacagtttagagaaGaactggaaaataagaatgaa	22	8	9	2	0	0	5	0	1	0	4	0	7	0	6	0	1	2	1	0	1	11	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.6652G>C	p.Glu2218Gln	p.E2218Q	ENST00000356239	29/50	52	44	8	57	57	0	strelka-varscan-mutect	AKAP9,missense_variant,p.Glu2218Gln,ENST00000356239,NM_005751.4,NM_147185.2;AKAP9,missense_variant,p.Glu2229Gln,ENST00000359028,;AKAP9,missense_variant,p.Glu2171Gln,ENST00000358100,;AKAP9,missense_variant,p.Glu64Gln,ENST00000394534,;	C	ENST00000356239	Transcript	missense_variant	6885/12471	6652/11724	2218/3907	E/Q	Gaa/Caa		1		1	AKAP9	HGNC	HGNC:379	protein_coding	YES	CCDS5622.1	ENSP00000348573	Q99996		UPI000002A38D	NM_005751.4,NM_147185.2	deleterious(0)		29/50		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF252																	MODERATE	1	SNV	1			1										PASS		rs1487087847	.												C	3	2	46	92076894	92076894	G	C	1	0	0	0	0	1	0	0	0	543	943	33	4		4	AKAP9	7	92076894	Missense_Mutation	SNP	G	C3N-00294_TP	62604	92076894	67269079	556	14058											
AKAP9	0	.	GRCh38	chr7	92079961	92079961	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattaaccttgagaatatcaGaattagaaagccaggttgtt	15	12	8	6	0	1	3	1	1	0	3	1	4	1	3	2	1	2	2	2	1	6	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.7828G>C	p.Glu2610Gln	p.E2610Q	ENST00000356239	31/50	52	46	6	86	86	0	strelka-varscan-mutect	AKAP9,missense_variant,p.Glu2610Gln,ENST00000356239,NM_005751.4,NM_147185.2;AKAP9,missense_variant,p.Glu2621Gln,ENST00000359028,;AKAP9,missense_variant,p.Glu2563Gln,ENST00000358100,;AKAP9,missense_variant,p.Glu456Gln,ENST00000394534,;AKAP9,upstream_gene_variant,,ENST00000435423,;	C	ENST00000356239	Transcript	missense_variant	8061/12471	7828/11724	2610/3907	E/Q	Gaa/Caa		1		1	AKAP9	HGNC	HGNC:379	protein_coding	YES	CCDS5622.1	ENSP00000348573	Q99996		UPI000002A38D	NM_005751.4,NM_147185.2	tolerated(0.06)		31/50																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	92079961	92079961	G	C	1	0	0	0	0	1	0	0	0	543	943	33	4		4	AKAP9	7	92079961	Missense_Mutation	SNP	G	C3N-00294_TP	3067	92079961	67266012	557	14059											
PPP1R9A	0	.	GRCh38	chr7	95284083	95284083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagctcagacctccactcGttccccttgcatgcctttct	7	12	5	17	1	2	1	1	0	1	1	5	1	4	1	5	0	4	3	5	0	1	3	rs764328640		C3N-00294_TP	C3N-00294_NB	G	G																c.3362G>A	p.Arg1121His	p.R1121H	ENST00000433360	17/20	304	215	89	205	205	0	strelka-varscan-mutect	PPP1R9A,missense_variant,p.Arg1099His,ENST00000456331,NM_001166162.1;PPP1R9A,missense_variant,p.Arg1121His,ENST00000433360,NM_001166160.1;PPP1R9A,missense_variant,p.Arg1099His,ENST00000424654,;PPP1R9A,missense_variant,p.Arg1081His,ENST00000289495,NM_001166161.1;PPP1R9A,intron_variant,,ENST00000433881,;PPP1R9A,intron_variant,,ENST00000340694,NM_017650.2,NM_001166163.1;	A	ENST00000433360	Transcript	missense_variant	3644/5369	3362/4125	1121/1374	R/H	cGt/cAt	rs764328640,COSM1742529,COSM1742530	1		1	PPP1R9A	HGNC	HGNC:14946	protein_coding	YES	CCDS55127.1	ENSP00000405514	Q9ULJ8		UPI000198CF27	NM_001166160.1	tolerated(0.55)		17/20		hmmpanther:PTHR16154,hmmpanther:PTHR16154:SF22											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs764328640	.												A	3	1	46	95284083	95284083	G	A	1	0	0	0	0	1	0	0	0	12501	1145	40	1		1	PPP1R9A	7	95284083	Missense_Mutation	SNP	G	C3N-00294_TP	3204122	95284083	64061890	558	14060											
DLX6	0	.	GRCh38	chr7	97007802	97007802	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccagagagagccgaactgGcagcttccttaggactgaca	11	8	11	11	1	0	3	0	1	0	2	2	6	2	4	3	2	3	2	3	2	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.601G>C	p.Ala201Pro	p.A201P	ENST00000518156	2/3	112	94	18	76	76	0	strelka-varscan-mutect	DLX6,missense_variant,p.Ala201Pro,ENST00000518156,NM_005222.3;DLX6,missense_variant,p.Ala73Pro,ENST00000555308,;DLX6-AS1,intron_variant,,ENST00000430027,;DLX6-AS1,intron_variant,,ENST00000605417,;DLX6-AS1,intron_variant,,ENST00000437331,;DLX6-AS1,intron_variant,,ENST00000452769,;DLX6-AS1,intron_variant,,ENST00000458352,;DLX6-AS1,intron_variant,,ENST00000430404,;DLX6-AS1,intron_variant,,ENST00000437541,;DLX6-AS1,upstream_gene_variant,,ENST00000431497,;DLX6,non_coding_transcript_exon_variant,,ENST00000493273,;	C	ENST00000518156	Transcript	missense_variant	1031/2304	601/882	201/293	A/P	Gca/Cca		1		1	DLX6	HGNC	HGNC:2919	protein_coding	YES	CCDS47647.2	ENSP00000428480	P56179		UPI0000EE57E0	NM_005222.3	deleterious(0.02)		2/3		Gene3D:1.10.10.60,Pfam_domain:PF00046,Prints_domain:PR00031,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF26,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	97007802	97007802	G	C	1	0	0	0	0	1	0	0	0	4382	1203	42	4		4	DLX6	7	97007802	Missense_Mutation	SNP	G	C3N-00294_TP	1723719	97007802	62338171	559	14061											
ZAN	0	.	GRCh38	chr7	100750815	100750815	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagtcccccgattcctctCtggaaacgcgtggggtctca	6	9	13	13	3	2	0	1	0	2	0	6	3	4	2	3	4	1	0	3	4	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1440C>T	p.=	p.L480L	ENST00000613979	12/48	98	87	11	80	80	0	strelka-varscan-mutect	ZAN,synonymous_variant,p.=,ENST00000613979,NM_003386.2;ZAN,synonymous_variant,p.=,ENST00000618565,;ZAN,synonymous_variant,p.=,ENST00000620596,NM_173059.2;ZAN,synonymous_variant,p.=,ENST00000546292,;ZAN,synonymous_variant,p.=,ENST00000542585,;ZAN,synonymous_variant,p.=,ENST00000538115,;ZAN,synonymous_variant,p.=,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,;	T	ENST00000613979	Transcript	synonymous_variant	1605/8669	1440/8439	480/2812	L	ctC/ctT		1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.2			12/48		Pfam_domain:PF00629,PROSITE_profiles:PS50060,SMART_domains:SM00137,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	100750815	100750815	C	T	1	0	0	0	0	0	0	0	1	18074	900	32	3		3	ZAN	7	100750815	Silent	SNP	C	C3N-00294_TP	3743013	100750815	58595158	560	14062											
MUC3A	0	.	GRCh38	chr7	100957716	100957716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagcctcacttcttcaatCaccaccaccaagaccacctc	11	7	2	21	0	4	1	3	0	1	1	5	1	4	1	7	0	1	0	7	0	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.5937C>G	p.Ile1979Met	p.I1979M	ENST00000379458	2/12	415	384	31	291	291	0	varscan-mutect	MUC3A,missense_variant,p.Ile1979Met,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Ile1979Met,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,;	G	ENST00000379458	Transcript	missense_variant	6007/11226	5937/9972	1979/3323	I/M	atC/atG		1		1	MUC3A	HGNC	HGNC:7513	protein_coding	YES	CCDS78262.1	ENSP00000368771	Q02505		UPI000455B941	NM_005960.1	deleterious_low_confidence(0)		2/12		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	46	100957716	100957716	C	G	1	0	0	0	0	1	0	0	0	9976	816	29	4		4	MUC3A	7	100957716	Missense_Mutation	SNP	C	C3N-00294_TP	206901	100957716	58388257	561	14063											
MUC17	0	.	GRCh38	chr7	101042100	101042100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcatctccagcaactcttCaggtcaccactatgcgtatg	9	12	7	13	1	5	0	3	0	2	0	6	0	5	0	2	1	3	3	2	1	3	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.10684C>G	p.Gln3562Glu	p.Q3562E	ENST00000306151	3/13	212	180	32	157	157	0	strelka-varscan-mutect	MUC17,missense_variant,p.Gln3562Glu,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Gln3562Glu,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	G	ENST00000306151	Transcript	missense_variant	10748/14247	10684/13482	3562/4493	Q/E	Cag/Gag		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	tolerated(1)		3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	101042100	101042100	C	G	1	0	0	0	0	1	0	0	0	9973	827	29	4		4	MUC17	7	101042100	Missense_Mutation	SNP	C	C3N-00294_TP	84384	101042100	58303873	562	14064											
SERPINE1	0	.	GRCh38	chr7	101128507	101128507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccacctggcctcagacttCggggtgagggtgtttcagca	6	9	14	12	1	2	2	2	1	0	1	3	2	2	2	3	4	1	2	3	4	0	2	rs780207027		C3N-00294_TP	C3N-00294_NB	C	C																c.114C>T	p.=	p.F38F	ENST00000223095	2/9	341	291	50	243	243	0	strelka-varscan-mutect	SERPINE1,synonymous_variant,p.=,ENST00000223095,NM_000602.4;	T	ENST00000223095	Transcript	synonymous_variant	271/3190	114/1209	38/402	F	ttC/ttT	rs780207027,COSM1083372	1		1	SERPINE1	HGNC	HGNC:8583	protein_coding	YES	CCDS5711.1	ENSP00000223095	P05121	A0A024QYT5	UPI0000000CAB	NM_000602.4			2/9		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF49,Gene3D:3.30.497.10,Pfam_domain:PF00079,Superfamily_domains:SSF56574											0,1						LOW	1	SNV	1		0,1	1										PASS		rs780207027	.												T	2	4	46	101128507	101128507	C	T	1	0	0	0	0	0	0	0	1	14387	883	31	1		1	SERPINE1	7	101128507	Silent	SNP	C	C3N-00294_TP	86407	101128507	58217466	563	14065											
SPDYE2	0	.	GRCh38	chr7	102554552	102554552	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacccatcctccctgagcaCcacaaggacttcaacagtca	12	7	5	17	0	3	1	3	1	0	0	5	2	5	2	4	1	2	1	4	1	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.354C>T	p.=	p.H118H	ENST00000507918	3/9	640	601	39	489	489	0	varscan-mutect	SPDYE2,synonymous_variant,p.=,ENST00000507918,NM_001031618.3;SPDYE2,synonymous_variant,p.=,ENST00000432940,;POLR2J3,intron_variant,,ENST00000513506,;RP11-514P8.7,intron_variant,,ENST00000514917,;SPDYE2,upstream_gene_variant,,ENST00000341656,;POLR2J3,intron_variant,,ENST00000503564,;POLR2J3,intron_variant,,ENST00000506060,;POLR2J3,intron_variant,,ENST00000511773,;POLR2J3,intron_variant,,ENST00000502415,;POLR2J3,intron_variant,,ENST00000504677,;POLR2J3,intron_variant,,ENST00000489144,;POLR2J3,intron_variant,,ENST00000464525,;POLR2J3,intron_variant,,ENST00000379340,;POLR2J3,intron_variant,,ENST00000486319,;POLR2J3,intron_variant,,ENST00000508848,;POLR2J3,intron_variant,,ENST00000507355,;	T	ENST00000507918	Transcript	synonymous_variant	828/1742	354/1209	118/402	H	caC/caT		1		1	SPDYE2	HGNC	HGNC:33841	protein_coding	YES	CCDS34716.2	ENSP00000421686	Q495Y8	I6XC90	UPI0001AE70B7	NM_001031618.3			3/9		hmmpanther:PTHR31156,hmmpanther:PTHR31156:SF12																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	46	102554552	102554552	C	T	1	0	0	0	0	0	0	0	1	15378	506	18	3		3	SPDYE2	7	102554552	Silent	SNP	C	C3N-00294_TP	1426045	102554552	56791421	564	14066											
AC105052.1	0	.	GRCh38	chr7	102672991	102672991	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcagaccgggaaagggaGtctccctttccccgggggag	8	7	15	11	2	1	1	0	0	1	1	3	4	2	4	4	4	1	1	4	4	2	2			C3N-00294_TP	C3N-00294_NB	G	G																c.373-2C>G		p.X125_splice	ENST00000624140		500	469	31	341	340	1	varscan-mutect	AC105052.1,splice_acceptor_variant,,ENST00000624140,;POLR2J2,upstream_gene_variant,,ENST00000358438,;POLR2J2,upstream_gene_variant,,ENST00000333432,NM_032959.5;RP11-577H5.5,upstream_gene_variant,,ENST00000476151,;	C	ENST00000624140	Transcript	splice_acceptor_variant	-/483	373/483	125/160			COSM4847189	1		-1	AC105052.1	Clone_based_ensembl_gene		protein_coding	YES		ENSP00000485271		Q86UW5	UPI0000192108					1/1												1						HIGH		SNV	5		1	1										PASS		.	.												C	5	2	46	102672991	102672991	G	C	1	0	0	0	0	0	0	1	0	137	1043	36	4		4	AC105052.1	7	102672991	Splice_Site	SNP	G	C3N-00294_TP	118439	102672991	56672982	565	14067											
ORC5	0	.	GRCh38	chr7	104195158	104195158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttacctatgctgtaatcagGgaaatataagacaaacggct	15	11	8	7	1	1	1	1	0	0	1	1	2	1	2	1	2	3	3	1	2	7	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.538C>A	p.Pro180Thr	p.P180T	ENST00000297431	5/14	109	98	11	126	126	0	strelka-varscan-mutect	ORC5,missense_variant,p.Pro180Thr,ENST00000297431,NM_002553.3;ORC5,missense_variant,p.Pro180Thr,ENST00000447452,NM_181747.3;ORC5,non_coding_transcript_exon_variant,,ENST00000485726,;ORC5,non_coding_transcript_exon_variant,,ENST00000463152,;ORC5,3_prime_UTR_variant,,ENST00000422497,;	T	ENST00000297431	Transcript	missense_variant	681/1958	538/1308	180/435	P/T	Cct/Act		1		-1	ORC5	HGNC	HGNC:8491	protein_coding	YES	CCDS5734.1	ENSP00000297431	O43913	A4D0P7	UPI0000001C1C	NM_002553.3	deleterious(0)		5/14		hmmpanther:PTHR12705,Pfam_domain:PF14630,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	104195158	104195158	G	T	1	0	0	0	0	1	0	0	0	11331	1232	43	2		2	ORC5	7	104195158	Missense_Mutation	SNP	G	C3N-00294_TP	1522167	104195158	55150815	566	14068											
KMT2E	0	.	GRCh38	chr7	105101924	105101924	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctagcaagccaaccccTgccaaagtaaatagaactaa	18	6	6	11	0	0	1	0	0	0	1	0	1	0	1	4	0	6	3	4	0	10	4	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.1926T>A	p.=	p.P642P	ENST00000311117	17/27	435	316	119	375	375	0	strelka-varscan-mutect	KMT2E,synonymous_variant,p.=,ENST00000311117,NM_182931.2;KMT2E,synonymous_variant,p.=,ENST00000257745,NM_018682.3;KMT2E,synonymous_variant,p.=,ENST00000479838,;KMT2E,downstream_gene_variant,,ENST00000622386,;CTB-152G17.6,downstream_gene_variant,,ENST00000607968,;KMT2E,synonymous_variant,p.=,ENST00000334884,;	A	ENST00000311117	Transcript	synonymous_variant	2471/6874	1926/5577	642/1858	P	ccT/ccA		1		1	KMT2E	HGNC	HGNC:18541	protein_coding	YES	CCDS34723.1	ENSP00000312379	Q8IZD2		UPI0000074133	NM_182931.2			17/27																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	105101924	105101924	T	A	1	0	0	0	0	0	0	0	1	8299	1567	55	4		4	KMT2E	7	105101924	Silent	SNP	T	C3N-00294_TP	906766	105101924	54244049	567	14069											
CDHR3	0	.	GRCh38	chr7	106032658	106032658	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaacagaaatccagccttCatgaacagggcttaccccaa	16	6	7	12	0	1	3	1	1	0	2	2	3	2	3	4	1	4	1	4	1	6	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2619C>T	p.=	p.F873F	ENST00000317716	19/19	194	166	28	132	132	0	strelka-varscan-mutect	CDHR3,synonymous_variant,p.=,ENST00000317716,NM_152750.4;CDHR3,synonymous_variant,p.=,ENST00000478080,NM_001301161.1;CDHR3,3_prime_UTR_variant,,ENST00000466045,;CDHR3,downstream_gene_variant,,ENST00000470188,;RP4-568B10.1,upstream_gene_variant,,ENST00000623032,;CDHR3,non_coding_transcript_exon_variant,,ENST00000468143,;	T	ENST00000317716	Transcript	synonymous_variant	2699/3813	2619/2658	873/885	F	ttC/ttT		1		1	CDHR3	HGNC	HGNC:26308	protein_coding	YES	CCDS47684.1	ENSP00000325954	Q6ZTQ4		UPI00001C0C6E	NM_152750.4			19/19																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	106032658	106032658	C	T	1	0	0	0	0	0	0	0	1	2823	825	29	3		3	CDHR3	7	106032658	Silent	SNP	C	C3N-00294_TP	930734	106032658	53313315	568	14070											
DUS4L	0	.	GRCh38	chr7	107577531	107577531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagcacatcagcaatcataGattaccttacagaccattat	16	10	4	11	0	2	2	2	0	0	2	2	2	2	2	2	0	4	2	2	0	6	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.925G>C	p.Asp309His	p.D309H	ENST00000265720	8/8	126	110	16	103	103	0	strelka-varscan-mutect	DUS4L,missense_variant,p.Asp309His,ENST00000265720,NM_001270419.1,NM_181581.2;BCAP29,upstream_gene_variant,,ENST00000379119,NM_001008405.2;BCAP29,upstream_gene_variant,,ENST00000005259,NM_018844.3;BCAP29,upstream_gene_variant,,ENST00000379117,;BCAP29,upstream_gene_variant,,ENST00000445771,;BCAP29,upstream_gene_variant,,ENST00000457837,;BCAP29,upstream_gene_variant,,ENST00000465919,;BCAP29,upstream_gene_variant,,ENST00000479917,;BCAP29,upstream_gene_variant,,ENST00000473124,;BCAP29,upstream_gene_variant,,ENST00000421217,;RP4-593H12.1,downstream_gene_variant,,ENST00000610269,;BCAP29,upstream_gene_variant,,ENST00000494086,;BCAP29,upstream_gene_variant,,ENST00000466094,;DUS4L,3_prime_UTR_variant,,ENST00000436411,;DUS4L,3_prime_UTR_variant,,ENST00000443233,;DUS4L,3_prime_UTR_variant,,ENST00000422290,;DUS4L,3_prime_UTR_variant,,ENST00000431839,;DUS4L,non_coding_transcript_exon_variant,,ENST00000485825,;DUS4L,downstream_gene_variant,,ENST00000471763,;BCAP29,upstream_gene_variant,,ENST00000482371,;DUS4L,downstream_gene_variant,,ENST00000458611,;BCAP29,upstream_gene_variant,,ENST00000442065,;DUS4L,downstream_gene_variant,,ENST00000497798,;BCAP29,upstream_gene_variant,,ENST00000486326,;	C	ENST00000265720	Transcript	missense_variant	1287/2220	925/954	309/317	D/H	Gat/Cat		1		1	DUS4L	HGNC	HGNC:21517	protein_coding	YES	CCDS5745.1	ENSP00000265720	O95620	A4D0R5	UPI000006DD5D	NM_001270419.1,NM_181581.2	deleterious(0.03)		8/8		hmmpanther:PTHR11082:SF31,hmmpanther:PTHR11082,PIRSF_domain:PIRSF006621,Superfamily_domains:SSF51395																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	46	107577531	107577531	G	C	1	0	0	0	0	1	0	0	0	4630	942	33	4		4	DUS4L	7	107577531	Missense_Mutation	SNP	G	C3N-00294_TP	1544873	107577531	51768442	569	14071											
LAMB1	0	.	GRCh38	chr7	107935618	107935618	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccctctcctctgcctcaaGagacatctggaaatacttgg	10	10	7	14	0	4	1	1	0	3	1	5	3	4	2	3	2	2	0	3	2	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3985C>G	p.Leu1329Val	p.L1329V	ENST00000222399	27/34	261	230	31	190	190	0	strelka-varscan-mutect	LAMB1,missense_variant,p.Leu1353Val,ENST00000393561,;LAMB1,missense_variant,p.Leu1329Val,ENST00000222399,NM_002291.2;LAMB1,non_coding_transcript_exon_variant,,ENST00000474380,;LAMB1,non_coding_transcript_exon_variant,,ENST00000470995,;LAMB1,non_coding_transcript_exon_variant,,ENST00000491196,;LAMB1,downstream_gene_variant,,ENST00000468999,;LAMB1,upstream_gene_variant,,ENST00000468518,;DLD,downstream_gene_variant,,ENST00000417551,;	C	ENST00000222399	Transcript	missense_variant	4216/5725	3985/5361	1329/1786	L/V	Ctt/Gtt		1		-1	LAMB1	HGNC	HGNC:6486	protein_coding	YES	CCDS5750.1	ENSP00000222399	P07942		UPI00001AE63F	NM_002291.2	tolerated(0.56)		27/34		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF233																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	107935618	107935618	G	C	1	0	0	0	0	1	0	0	0	8514	942	33	4		4	LAMB1	7	107935618	Missense_Mutation	SNP	G	C3N-00294_TP	358087	107935618	51410355	570	14072											
LAMB4	0	.	GRCh38	chr7	108105876	108105876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catagggcgacattcgctagCatggccattgcaaaagcagc	12	7	11	11	2	0	0	0	0	0	0	1	1	0	0	1	2	4	4	1	2	4	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.811G>A	p.Ala271Thr	p.A271T	ENST00000388781	8/34	328	238	90	255	254	1	strelka-mutect	LAMB4,missense_variant,p.Ala271Thr,ENST00000388781,NM_007356.2;LAMB4,missense_variant,p.Ala271Thr,ENST00000205386,NM_001318046.1;LAMB4,missense_variant,p.Ala271Thr,ENST00000418464,NM_001318048.1;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;	T	ENST00000388781	Transcript	missense_variant	895/5858	811/5286	271/1761	A/T	Gct/Act		1		-1	LAMB4	HGNC	HGNC:6491	protein_coding	YES	CCDS34732.1	ENSP00000373433	A4D0S4		UPI0000198CD5	NM_007356.2	deleterious(0)		8/34		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF279,SMART_domains:SM00180,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	108105876	108105876	C	T	1	0	0	0	0	1	0	0	0	8517	710	25	3		3	LAMB4	7	108105876	Missense_Mutation	SNP	C	C3N-00294_TP	170258	108105876	51240097	571	14073											
PNPLA8	0	.	GRCh38	chr7	108514791	108514791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttttatcttcaagttctGatttgtcccggaaatgttca	8	18	6	9	1	4	1	2	1	2	0	5	2	5	2	2	1	0	2	2	1	3	7			C3N-00294_TP	C3N-00294_NB	G	G																c.701C>T	p.Ser234Leu	p.S234L	ENST00000422087	4/12	139	117	22	124	124	0	strelka-varscan-mutect	PNPLA8,missense_variant,p.Ser234Leu,ENST00000426128,NM_001256009.1;PNPLA8,missense_variant,p.Ser234Leu,ENST00000422087,NM_015723.3;PNPLA8,missense_variant,p.Ser234Leu,ENST00000257694,NM_001256007.1;PNPLA8,missense_variant,p.Ser234Leu,ENST00000436062,NM_001256008.1;PNPLA8,missense_variant,p.Ser134Leu,ENST00000453144,NM_001256011.1,NM_001256010.1;PNPLA8,missense_variant,p.Ser134Leu,ENST00000453085,;PNPLA8,downstream_gene_variant,,ENST00000427008,;PNPLA8,downstream_gene_variant,,ENST00000415498,;PNPLA8,intron_variant,,ENST00000483879,;PNPLA8,intron_variant,,ENST00000476592,;PNPLA8,intron_variant,,ENST00000489738,;RPL7P32,downstream_gene_variant,,ENST00000457119,;	A	ENST00000422087	Transcript	missense_variant	1108/3530	701/2349	234/782	S/L	tCa/tTa	COSM4809085	1		-1	PNPLA8	HGNC	HGNC:28900	protein_coding	YES	CCDS34733.1	ENSP00000410804	Q9NP80	A0A024R746	UPI0000073D34	NM_015723.3	tolerated(0.22)		4/12		hmmpanther:PTHR24185											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	46	108514791	108514791	G	A	1	0	0	0	0	1	0	0	0	12279	1294	45	3		3	PNPLA8	7	108514791	Missense_Mutation	SNP	G	C3N-00294_TP	408915	108514791	50831182	572	14074											
ZNF277	0	.	GRCh38	chr7	112296277	112296277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgttttaccagaagataGaattcttagagaagagcttc	14	12	9	6	1	1	6	0	1	1	5	2	7	1	6	1	0	2	2	1	0	6	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.431G>T	p.Arg144Ile	p.R144I	ENST00000361822	4/12	65	55	10	83	82	1	strelka-varscan-mutect	ZNF277,missense_variant,p.Arg144Ile,ENST00000361822,NM_021994.2;ZNF277,missense_variant,p.Arg144Ile,ENST00000450657,;ZNF277,intron_variant,,ENST00000425229,;ZNF277,3_prime_UTR_variant,,ENST00000361946,;ZNF277,3_prime_UTR_variant,,ENST00000457808,;	T	ENST00000361822	Transcript	missense_variant	560/1849	431/1353	144/450	R/I	aGa/aTa		1		1	ZNF277	HGNC	HGNC:13070	protein_coding	YES	CCDS5755.2	ENSP00000354501	Q9NRM2		UPI00000437E2	NM_021994.2	deleterious(0.01)		4/12		Low_complexity_(Seg):seg,hmmpanther:PTHR13267,hmmpanther:PTHR13267:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	112296277	112296277	G	T	1	0	0	0	0	1	0	0	0	18388	942	33	2		2	ZNF277	7	112296277	Missense_Mutation	SNP	G	C3N-00294_TP	3781486	112296277	47049696	573	14075											
BMT2	0	.	GRCh38	chr7	112895693	112895693	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcttttttcatctttctCaagtgcttttctcttcccac	5	20	3	13	0	5	0	2	0	4	0	8	0	6	0	1	0	2	2	1	0	1	7			C3N-00294_TP	C3N-00294_NB	C	C																c.349G>C	p.Glu117Gln	p.E117Q	ENST00000297145	3/5	117	94	23	142	142	0	strelka-varscan-mutect	BMT2,missense_variant,p.Glu117Gln,ENST00000297145,NM_152556.2;BMT2,missense_variant,p.Glu99Gln,ENST00000432572,;BMT2,non_coding_transcript_exon_variant,,ENST00000485446,;	G	ENST00000297145	Transcript	missense_variant	515/3981	349/1218	117/405	E/Q	Gag/Cag	COSM5498556	1		-1	BMT2	HGNC	HGNC:26475	protein_coding	YES	CCDS43634.1	ENSP00000297145	Q1RMZ1		UPI000020F946	NM_152556.2	tolerated(0.16)		3/5		HAMAP:MF_03044,hmmpanther:PTHR21008,hmmpanther:PTHR21008:SF0											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	46	112895693	112895693	C	G	1	0	0	0	0	1	0	0	0	1628	835	29	4		4	BMT2	7	112895693	Missense_Mutation	SNP	C	C3N-00294_TP	599416	112895693	46450280	574	14076											
PPP1R3A	0	.	GRCh38	chr7	113878526	113878526	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttttgaagttgctttttGatattctgtaatgacccatg	9	18	8	6	0	1	3	0	3	1	0	1	3	1	3	1	0	1	4	1	0	3	8			C3N-00294_TP	C3N-00294_NB	G	G																c.2566C>G	p.Gln856Glu	p.Q856E	ENST00000284601	4/4	196	168	28	214	214	0	strelka-varscan-mutect	PPP1R3A,missense_variant,p.Gln856Glu,ENST00000284601,NM_002711.3;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	C	ENST00000284601	Transcript	missense_variant	2635/4384	2566/3369	856/1122	Q/E	Caa/Gaa	COSM1548122,COSM4482014	1		-1	PPP1R3A	HGNC	HGNC:9291	protein_coding	YES	CCDS5759.1	ENSP00000284601	Q16821		UPI000013DDAA	NM_002711.3	tolerated(0.44)		4/4		hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	46	113878526	113878526	G	C	1	0	0	0	0	1	0	0	0	12492	1299	45	4		4	PPP1R3A	7	113878526	Missense_Mutation	SNP	G	C3N-00294_TP	982833	113878526	45467447	575	14077											
ING3	0	.	GRCh38	chr7	120966640	120966640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttaggatctttggaattaGacactccttcacagccagtg	10	14	8	9	0	2	1	1	0	1	1	3	3	3	3	2	2	1	0	2	2	3	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.379G>A	p.Asp127Asn	p.D127N	ENST00000315870	6/12	496	438	58	403	403	0	strelka-varscan-mutect	ING3,missense_variant,p.Asp127Asn,ENST00000315870,NM_019071.2;ING3,missense_variant,p.Asp112Asn,ENST00000431467,;ING3,stop_retained_variant,p.=,ENST00000427726,;ING3,upstream_gene_variant,,ENST00000497502,;	A	ENST00000315870	Transcript	missense_variant	527/3777	379/1257	127/418	D/N	Gac/Aac		1		1	ING3	HGNC	HGNC:14587	protein_coding	YES	CCDS5778.1	ENSP00000320566	Q9NXR8		UPI00000373B3	NM_019071.2	deleterious(0.01)		6/12		hmmpanther:PTHR10333:SF65,hmmpanther:PTHR10333																	MODERATE	1	SNV	1			1										PASS		rs1193501935	.												A	3	1	46	120966640	120966640	G	A	1	0	0	0	0	1	0	0	0	7639	942	33	3		3	ING3	7	120966640	Missense_Mutation	SNP	G	C3N-00294_TP	7088114	120966640	38379333	576	14078											
WNT16	0	.	GRCh38	chr7	121339056	121339056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaggaaaatgcgcaggaGagaaaaagatcagaggaaaa	23	2	13	3	1	1	4	1	0	0	4	1	8	1	7	0	3	1	1	0	3	7	0	rs115155201		C3N-00294_TP	C3N-00294_NB	G	G																c.809G>A	p.Arg270Lys	p.R270K	ENST00000222462	4/4	351	309	42	278	278	0	strelka-varscan-mutect	WNT16,missense_variant,p.Arg270Lys,ENST00000222462,NM_057168.1;WNT16,missense_variant,p.Arg260Lys,ENST00000361301,NM_016087.2;	A	ENST00000222462	Transcript	missense_variant	1099/3147	809/1098	270/365	R/K	aGa/aAa	rs115155201	1		1	WNT16	HGNC	HGNC:16267	protein_coding	YES	CCDS5781.1	ENSP00000222462	Q9UBV4		UPI000005104C	NM_057168.1	tolerated(1)		4/4		Pfam_domain:PF00110,Prints_domain:PR01895,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF70,SMART_domains:SM00097																	MODERATE	1	SNV	1			1										PASS		rs115155201	.												A	3	1	46	121339056	121339056	G	A	1	0	0	0	0	1	0	0	0	17941	942	33	3		3	WNT16	7	121339056	Missense_Mutation	SNP	G	C3N-00294_TP	372416	121339056	38006917	577	14079											
PTPRZ1	0	.	GRCh38	chr7	122011573	122011573	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atacagtttctcaaatccttCcacaagttacttcagctacc	12	13	3	13	0	2	0	2	0	1	0	5	0	4	0	3	0	4	3	3	0	5	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2527C>G	p.Pro843Ala	p.P843A	ENST00000393386	12/30	294	244	50	230	230	0	strelka-varscan-mutect	PTPRZ1,missense_variant,p.Pro843Ala,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,intron_variant,,ENST00000449182,NM_001206839.1;PTPRZ1,intron_variant,,ENST00000483028,;	G	ENST00000393386	Transcript	missense_variant	2938/8175	2527/6948	843/2315	P/A	Cca/Gca		1		1	PTPRZ1	HGNC	HGNC:9685	protein_coding	YES	CCDS34740.1	ENSP00000377047	P23471		UPI000020F9BB	NM_001206838.1,NM_002851.2	deleterious_low_confidence(0.01)		12/30																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	122011573	122011573	C	G	1	0	0	0	0	1	0	0	0	12969	855	30	4		4	PTPRZ1	7	122011573	Missense_Mutation	SNP	C	C3N-00294_TP	672517	122011573	37334400	578	14080											
TAS2R16	0	.	GRCh38	chr7	122994957	122994957	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataagacggcaagggacctCagggcagtgaagcgcgcttt	12	6	14	9	3	1	2	1	1	0	1	1	3	1	3	1	3	1	3	1	3	4	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.678G>C	p.=	p.L226L	ENST00000249284	1/1	165	144	21	111	111	0	strelka-varscan-mutect	TAS2R16,synonymous_variant,p.=,ENST00000249284,NM_016945.2;	G	ENST00000249284	Transcript	synonymous_variant	744/997	678/876	226/291	L	ctG/ctC		1		-1	TAS2R16	HGNC	HGNC:14921	protein_coding	YES	CCDS5785.1	ENSP00000249284	Q9NYV7		UPI0000038B18	NM_016945.2			1/1		Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF68,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												G	2	3	46	122994957	122994957	C	G	1	0	0	0	0	0	0	0	1	15968	813	29	4		4	TAS2R16	7	122994957	Silent	SNP	C	C3N-00294_TP	983384	122994957	36351016	579	14081											
IQUB	0	.	GRCh38	chr7	123457513	123457513	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagattgtcgcaagcactGaggactgactgggacgccca	10	7	13	11	2	0	3	0	3	0	1	1	6	0	5	1	2	1	2	1	2	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2061C>T	p.=	p.L687L	ENST00000466202	12/13	294	242	52	189	189	0	strelka-varscan-mutect	IQUB,synonymous_variant,p.=,ENST00000466202,NM_001321293.1,NM_001282855.1;IQUB,synonymous_variant,p.=,ENST00000324698,NM_178827.4;RNU6-296P,downstream_gene_variant,,ENST00000384608,;RP11-332K15.1,non_coding_transcript_exon_variant,,ENST00000419832,;IQUB,3_prime_UTR_variant,,ENST00000484508,;IQUB,3_prime_UTR_variant,,ENST00000469057,;	A	ENST00000466202	Transcript	synonymous_variant	2638/3296	2061/2376	687/791	L	ctC/ctT		1		-1	IQUB	HGNC	HGNC:21995	protein_coding	YES	CCDS5787.1	ENSP00000417769	Q8NA54	A0A024R771	UPI000013E3DF	NM_001321293.1,NM_001282855.1			12/13		hmmpanther:PTHR21074,hmmpanther:PTHR21074:SF0																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	123457513	123457513	G	A	1	0	0	0	0	0	0	0	1	7726	1277	45	3		3	IQUB	7	123457513	Silent	SNP	G	C3N-00294_TP	462556	123457513	35888460	580	14082											
ZNF800	0	.	GRCh38	chr7	127374903	127374903	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagtcctcgaaatatattGaaatactgcattttgattag	14	15	6	6	1	1	2	1	2	0	0	3	3	2	2	1	0	2	1	1	0	6	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.433C>T	p.Gln145Ter	p.Q145*	ENST00000393313	5/6	86	75	11	90	90	0	strelka-varscan-mutect	ZNF800,stop_gained,p.Gln145Ter,ENST00000393313,;ZNF800,stop_gained,p.Gln145Ter,ENST00000265827,NM_176814.4;ZNF800,stop_gained,p.Gln145Ter,ENST00000393312,;ZNF800,stop_gained,p.Gln145Ter,ENST00000619291,;ZNF800,stop_gained,p.Gln145Ter,ENST00000434602,;ZNF800,downstream_gene_variant,,ENST00000436992,;ZNF800,downstream_gene_variant,,ENST00000439506,;ZNF800,upstream_gene_variant,,ENST00000485577,;	A	ENST00000393313	Transcript	stop_gained	1025/4358	433/1995	145/664	Q/*	Caa/Taa		1		-1	ZNF800	HGNC	HGNC:27267	protein_coding	YES	CCDS5795.1	ENSP00000376989	Q2TB10		UPI000020FA03				5/6		hmmpanther:PTHR21020																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	46	127374903	127374903	G	A	1	0	0	0	0	0	1	0	0	18754	1299	45	3		3	ZNF800	7	127374903	Nonsense_Mutation	SNP	G	C3N-00294_TP	3917390	127374903	31971070	581	14083											
SND1	0	.	GRCh38	chr7	128074511	128074511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctctgtcccaggtggaggtgGaggtggagagcatggacaag	9	7	18	7	0	1	1	0	0	1	1	2	5	2	4	1	7	1	1	1	7	1	0	rs764619324		C3N-00294_TP	C3N-00294_NB	G	G																c.1789G>C	p.Glu597Gln	p.E597Q	ENST00000354725	17/24	93	85	8	57	57	0	strelka-varscan-mutect	SND1,missense_variant,p.Glu597Gln,ENST00000354725,NM_014390.2;SND1,intron_variant,,ENST00000486037,;SND1,non_coding_transcript_exon_variant,,ENST00000470723,;SND1,non_coding_transcript_exon_variant,,ENST00000470463,;SND1,non_coding_transcript_exon_variant,,ENST00000484767,;	C	ENST00000354725	Transcript	missense_variant	1983/3476	1789/2733	597/910	E/Q	Gag/Cag	rs764619324	1		1	SND1	HGNC	HGNC:30646	protein_coding	YES	CCDS34747.1	ENSP00000346762	Q7KZF4	A0A140VK49	UPI00000727E5	NM_014390.2	tolerated(0.17)		17/24		Superfamily_domains:0047647,Gene3D:2.40.50.90,Pfam_domain:PF00565,PIRSF_domain:PIRSF017179,PROSITE_profiles:PS50830,hmmpanther:PTHR12302,hmmpanther:PTHR12302:SF5,Low_complexity_(Seg):seg,SMART_domains:SM00318																	MODERATE	1	SNV	1			1										PASS		rs764619324	.												C	3	2	46	128074511	128074511	G	C	1	0	0	0	0	1	0	0	0	15165	1175	41	4		4	SND1	7	128074511	Missense_Mutation	SNP	G	C3N-00294_TP	699608	128074511	31271462	582	14084											
TSGA13	0	.	GRCh38	chr7	130671706	130671706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggagcaaaggtgagctGagggtacattttcttctgtg	9	12	14	6	0	2	2	0	2	2	0	2	4	2	3	0	3	3	3	0	3	2	4			C3N-00294_TP	C3N-00294_NB	G	G																c.613C>A	p.Gln205Lys	p.Q205K	ENST00000456951	8/9	253	224	29	235	235	0	strelka-varscan-mutect	TSGA13,missense_variant,p.Gln205Lys,ENST00000456951,NM_001304968.1;TSGA13,missense_variant,p.Gln205Lys,ENST00000356588,NM_052933.3;COPG2,upstream_gene_variant,,ENST00000425248,NM_012133.5;COPG2,upstream_gene_variant,,ENST00000330992,NM_001290033.1;	T	ENST00000456951	Transcript	missense_variant	1465/2046	613/828	205/275	Q/K	Cag/Aag	COSM3703130,COSM4818915	1		-1	TSGA13	HGNC	HGNC:12369	protein_coding	YES	CCDS5824.1	ENSP00000406047	Q96PP4	A0A024R769	UPI0000073CFB	NM_001304968.1	tolerated(0.1)		8/9		Pfam_domain:PF14994,hmmpanther:PTHR37352											1,1						MODERATE		SNV	2		1,1	1										PASS		.	.												T	3	4	46	130671706	130671706	G	T	1	0	0	0	0	1	0	0	0	17125	1299	45	2		2	TSGA13	7	130671706	Missense_Mutation	SNP	G	C3N-00294_TP	2597195	130671706	28674267	583	14085											
TSGA13	0	.	GRCh38	chr7	130679222	130679222	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttgtcttgctgggtgattGagcagggaggtgggttgttg	4	14	18	5	0	1	2	0	2	1	0	1	3	1	3	1	4	2	4	1	4	0	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.320C>G	p.Ser107Ter	p.S107*	ENST00000456951	6/9	230	201	29	183	183	0	strelka-varscan-mutect	TSGA13,stop_gained,p.Ser107Ter,ENST00000456951,NM_001304968.1;TSGA13,stop_gained,p.Ser107Ter,ENST00000356588,NM_052933.3;TSGA13,downstream_gene_variant,,ENST00000438346,;TSGA13,downstream_gene_variant,,ENST00000443954,;	C	ENST00000456951	Transcript	stop_gained	1172/2046	320/828	107/275	S/*	tCa/tGa		1		-1	TSGA13	HGNC	HGNC:12369	protein_coding	YES	CCDS5824.1	ENSP00000406047	Q96PP4	A0A024R769	UPI0000073CFB	NM_001304968.1			6/9		Pfam_domain:PF14994,hmmpanther:PTHR37352																	HIGH	1	SNV	2			1										PASS		.	.												C	4	2	46	130679222	130679222	G	C	1	0	0	0	0	0	1	0	0	17125	1294	45	4		4	TSGA13	7	130679222	Nonsense_Mutation	SNP	G	C3N-00294_TP	7516	130679222	28666751	584	14086											
NUP205	0	.	GRCh38	chr7	135576293	135576293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcatcaacagccacattttCctggccttaccagaggatta	12	10	7	12	0	1	1	1	0	0	1	2	2	2	2	4	2	4	1	4	2	3	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.367C>T	p.Pro123Ser	p.P123S	ENST00000285968	4/43	157	138	19	97	96	1	strelka-varscan-mutect	NUP205,missense_variant,p.Pro123Ser,ENST00000285968,NM_015135.2;NUP205,downstream_gene_variant,,ENST00000489493,;	T	ENST00000285968	Transcript	missense_variant	393/6266	367/6039	123/2012	P/S	Cct/Tct		1		1	NUP205	HGNC	HGNC:18658	protein_coding	YES	CCDS34759.1	ENSP00000285968	Q92621		UPI00001D74D8	NM_015135.2	deleterious(0.01)		4/43		Pfam_domain:PF11894,hmmpanther:PTHR31344,hmmpanther:PTHR31344:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	135576293	135576293	C	T	1	0	0	0	0	1	0	0	0	10824	855	30	3		3	NUP205	7	135576293	Missense_Mutation	SNP	C	C3N-00294_TP	4897071	135576293	23769680	585	14087											
NUP205	0	.	GRCh38	chr7	135619848	135619848	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctgctttattacttacaGattgcccagagacctgatga	10	14	7	10	0	1	4	0	2	1	2	2	5	1	4	2	0	4	1	2	0	3	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4290G>A	p.=	p.Q1430Q	ENST00000285968	30/43	166	148	18	121	121	0	strelka-varscan-mutect	NUP205,synonymous_variant,p.=,ENST00000285968,NM_015135.2;NUP205,downstream_gene_variant,,ENST00000472132,;NUP205,synonymous_variant,p.=,ENST00000477620,;NUP205,non_coding_transcript_exon_variant,,ENST00000607647,;NUP205,downstream_gene_variant,,ENST00000463247,;	A	ENST00000285968	Transcript	synonymous_variant	4316/6266	4290/6039	1430/2012	Q	caG/caA		1		1	NUP205	HGNC	HGNC:18658	protein_coding	YES	CCDS34759.1	ENSP00000285968	Q92621		UPI00001D74D8	NM_015135.2			30/43		Pfam_domain:PF11894,hmmpanther:PTHR31344,hmmpanther:PTHR31344:SF0																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	135619848	135619848	G	A	1	0	0	0	0	0	0	0	1	10824	933	33	3		3	NUP205	7	135619848	Silent	SNP	G	C3N-00294_TP	43555	135619848	23726125	586	14088											
ATP6V0A4	0	.	GRCh38	chr7	138709779	138709779	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttcatcaccatagtccaGagcacttcagacagttctgc	10	11	7	13	0	4	2	3	0	1	2	5	2	5	2	2	0	2	3	2	0	1	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2274C>G	p.=	p.L758L	ENST00000310018	21/22	496	439	57	390	390	0	strelka-varscan-mutect	ATP6V0A4,synonymous_variant,p.=,ENST00000310018,NM_020632.2,NM_130840.2;ATP6V0A4,synonymous_variant,p.=,ENST00000393054,NM_130841.2;ATP6V0A4,synonymous_variant,p.=,ENST00000353492,;	C	ENST00000310018	Transcript	synonymous_variant	2557/3135	2274/2523	758/840	L	ctC/ctG		1		-1	ATP6V0A4	HGNC	HGNC:866	protein_coding	YES	CCDS5849.1	ENSP00000308122	Q9HBG4	A0A024R791	UPI000013CDFD	NM_020632.2,NM_130840.2			21/22		Pfam_domain:PF01496,PIRSF_domain:PIRSF001293,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF26																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	46	138709779	138709779	G	C	1	0	0	0	0	0	0	0	1	1323	929	33	4		4	ATP6V0A4	7	138709779	Silent	SNP	G	C3N-00294_TP	3089931	138709779	20636194	587	14089											
DENND2A	0	.	GRCh38	chr7	140519710	140519710	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atactcttgggctcggacctCaaacagacctgttaacaaga	13	9	8	11	1	2	2	1	0	1	2	3	3	2	3	2	2	3	2	2	2	4	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2920G>C	p.Glu974Gln	p.E974Q	ENST00000275884	18/19	201	177	24	128	128	0	strelka-varscan-mutect	DENND2A,missense_variant,p.Glu974Gln,ENST00000275884,NM_001318052.1;DENND2A,missense_variant,p.Glu974Gln,ENST00000496613,;DENND2A,missense_variant,p.Glu974Gln,ENST00000537639,NM_015689.3;DENND2A,3_prime_UTR_variant,,ENST00000461883,;	G	ENST00000275884	Transcript	missense_variant	3338/3735	2920/3030	974/1009	E/Q	Gag/Cag		1		-1	DENND2A	HGNC	HGNC:22212	protein_coding	YES	CCDS43659.1	ENSP00000275884	Q9ULE3		UPI00001C1E63	NM_001318052.1	deleterious(0.02)		18/19		hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF3,Pfam_domain:PF03455																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	140519710	140519710	C	G	1	0	0	0	0	1	0	0	0	4233	835	29	4		4	DENND2A	7	140519710	Missense_Mutation	SNP	C	C3N-00294_TP	1809931	140519710	18826263	588	14090											
DENND2A	0	.	GRCh38	chr7	140602368	140602368	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttctgcagctgggtcactGatgatcatatccaagctgaa	10	11	10	10	0	3	3	2	3	1	0	4	3	4	3	1	1	3	4	1	1	3	2			C3N-00294_TP	C3N-00294_NB	G	G																c.30C>T	p.=	p.I10I	ENST00000275884	2/19	66	59	7	66	66	0	strelka-varscan-mutect	DENND2A,synonymous_variant,p.=,ENST00000275884,NM_001318052.1;DENND2A,synonymous_variant,p.=,ENST00000492720,NM_001318053.1;DENND2A,synonymous_variant,p.=,ENST00000496613,;DENND2A,synonymous_variant,p.=,ENST00000537639,NM_015689.3;DENND2A,synonymous_variant,p.=,ENST00000491728,;DENND2A,synonymous_variant,p.=,ENST00000477488,;DENND2A,synonymous_variant,p.=,ENST00000489552,;DENND2A,intron_variant,,ENST00000475837,;DENND2A,synonymous_variant,p.=,ENST00000461883,;	A	ENST00000275884	Transcript	synonymous_variant	448/3735	30/3030	10/1009	I	atC/atT	COSM5612545,COSM5612546	1		-1	DENND2A	HGNC	HGNC:22212	protein_coding	YES	CCDS43659.1	ENSP00000275884	Q9ULE3		UPI00001C1E63	NM_001318052.1			2/19													1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	46	140602368	140602368	G	A	1	0	0	0	0	0	0	0	1	4233	1280	45	3		3	DENND2A	7	140602368	Silent	SNP	G	C3N-00294_TP	82658	140602368	18743605	589	14091											
PRSS1	0	.	GRCh38	chr7	142751984	142751984	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccctccagccactggcacGaagtgcctcatctctggctg	6	8	10	17	1	2	0	1	0	1	0	4	1	3	0	5	2	2	2	5	2	1	0	rs369013081		C3N-00294_TP	C3N-00294_NB	G	G																c.411G>A	p.=	p.T137T	ENST00000311737	3/5	401	273	128	287	287	0	strelka-varscan-mutect	PRSS1,synonymous_variant,p.=,ENST00000486171,;PRSS1,synonymous_variant,p.=,ENST00000612126,;PRSS1,synonymous_variant,p.=,ENST00000311737,NM_002769.4;PRSS1,synonymous_variant,p.=,ENST00000619214,;PRSS1,synonymous_variant,p.=,ENST00000492062,;TRBC2,intron_variant,,ENST00000637077,;TRBC2,intron_variant,,ENST00000610416,;TRBC2,intron_variant,,ENST00000636844,;PRSS1,non_coding_transcript_exon_variant,,ENST00000485223,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000497041,;	A	ENST00000311737	Transcript	synonymous_variant	417/800	411/744	137/247	T	acG/acA	rs369013081,COSM246810	1		1	PRSS1	HGNC	HGNC:9475	protein_coding	YES	CCDS5872.1	ENSP00000308720	P07477		UPI0000001309	NM_002769.4			3/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24264:SF12,hmmpanther:PTHR24264,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494											0,1						LOW	1	SNV	1		0,1	1										PASS		rs369013081	.												A	2	1	46	142751984	142751984	G	A	1	0	0	0	0	0	0	0	1	12761	1045	37	1		1	PRSS1	7	142751984	Silent	SNP	G	C3N-00294_TP	2149616	142751984	16593989	590	14092											
TRPV6	0	.	GRCh38	chr7	142873577	142873577	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcataggtgatgctgtacatGaagggcaggtccacgttgta	10	10	14	7	1	0	2	0	2	0	0	1	2	1	2	1	3	2	6	1	3	4	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1779C>T	p.=	p.F593F	ENST00000359396	13/15	576	501	75	425	424	1	strelka-varscan-mutect	TRPV6,synonymous_variant,p.=,ENST00000359396,NM_018646.5;EPHB6,downstream_gene_variant,,ENST00000619012,;EPHB6,downstream_gene_variant,,ENST00000422643,NM_004445.5;EPHB6,downstream_gene_variant,,ENST00000411471,NM_001280794.2,NM_001280795.2;TRPV6,downstream_gene_variant,,ENST00000436401,;EPHB6,downstream_gene_variant,,ENST00000476059,;TRPV6,downstream_gene_variant,,ENST00000431833,;RP11-114L10.2,upstream_gene_variant,,ENST00000438839,;EPHB6,downstream_gene_variant,,ENST00000617632,;TRPV6,non_coding_transcript_exon_variant,,ENST00000615386,;TRPV6,non_coding_transcript_exon_variant,,ENST00000485138,;EPHB6,downstream_gene_variant,,ENST00000616380,;EPHB6,downstream_gene_variant,,ENST00000614832,;EPHB6,downstream_gene_variant,,ENST00000611578,;EPHB6,downstream_gene_variant,,ENST00000486511,;TRPV6,downstream_gene_variant,,ENST00000619250,;TRPV6,downstream_gene_variant,,ENST00000489123,;TRPV6,downstream_gene_variant,,ENST00000474388,;EPHB6,downstream_gene_variant,,ENST00000471581,;	A	ENST00000359396	Transcript	synonymous_variant	1905/2928	1779/2298	593/765	F	ttC/ttT		1		-1	TRPV6	HGNC	HGNC:14006	protein_coding	YES		ENSP00000352358	Q9H1D0		UPI00064546CC	NM_018646.5			13/15		hmmpanther:PTHR10582:SF25,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	142873577	142873577	G	A	1	0	0	0	0	0	0	0	1	17106	1281	45	3		3	TRPV6	7	142873577	Silent	SNP	G	C3N-00294_TP	121593	142873577	16472396	591	14093											
TRPV5	0	.	GRCh38	chr7	142925546	142925546	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtagtagtttttgctGgaggatggtgatgtctcgag	7	14	14	6	1	1	1	0	1	1	0	2	4	1	3	1	3	1	4	1	3	2	4			C3N-00294_TP	C3N-00294_NB	G	G																c.1105C>T	p.Gln369Ter	p.Q369*	ENST00000265310	8/15	364	328	36	291	291	0	strelka-varscan-mutect	TRPV5,stop_gained,p.Gln369Ter,ENST00000265310,NM_019841.6;TRPV5,stop_gained,p.Gln369Ter,ENST00000442623,;TRPV5,stop_gained,p.Gln314Ter,ENST00000439304,;	A	ENST00000265310	Transcript	stop_gained	1454/2952	1105/2190	369/729	Q/*	Cag/Tag	COSM3878891	1		-1	TRPV5	HGNC	HGNC:3145	protein_coding	YES	CCDS5875.1	ENSP00000265310		A0A0A6YY98	UPI0004620D64	NM_019841.6			8/15		Pfam_domain:PF00520,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF11,TIGRFAM_domain:TIGR00870											1						HIGH	1	SNV	1		1	1										PASS		rs1350410887	.												A	4	1	46	142925546	142925546	G	A	1	0	0	0	0	0	1	0	0	17105	1357	47	3		3	TRPV5	7	142925546	Nonsense_Mutation	SNP	G	C3N-00294_TP	51969	142925546	16420427	592	14094											
ZYX	0	.	GRCh38	chr7	143382592	143382592	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgacctctgaccctctaGcccagggagaaggtgagcag	9	7	12	13	0	3	4	0	3	3	1	3	5	3	4	3	2	2	1	3	2	2	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.409-1G>T		p.X137_splice	ENST00000322764		184	111	73	129	129	0	strelka-varscan-mutect	ZYX,splice_acceptor_variant,,ENST00000322764,NM_001010972.1,NM_003461.4;ZYX,splice_acceptor_variant,,ENST00000392910,;ZYX,splice_acceptor_variant,,ENST00000457235,;ZYX,splice_acceptor_variant,,ENST00000449630,;ZYX,intron_variant,,ENST00000354434,;ZYX,upstream_gene_variant,,ENST00000446634,;MIR6892,upstream_gene_variant,,ENST00000612346,;AC093673.5,upstream_gene_variant,,ENST00000429630,;ZYX,intron_variant,,ENST00000477373,;ZYX,non_coding_transcript_exon_variant,,ENST00000468083,;ZYX,upstream_gene_variant,,ENST00000436448,;	T	ENST00000322764	Transcript	splice_acceptor_variant	-/2493	409/1719	137/572				1		1	ZYX	HGNC	HGNC:13200	protein_coding	YES	CCDS5883.1	ENSP00000324422	Q15942		UPI00000424F2	NM_001010972.1,NM_003461.4				3/9																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	46	143382592	143382592	G	T	1	0	0	0	0	0	0	1	0	18858	985	34	2		2	ZYX	7	143382592	Splice_Site	SNP	G	C3N-00294_TP	457046	143382592	15963381	593	14095											
TCAF2	0	.	GRCh38	chr7	143720281	143720281	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttccccgttcccacccctGagatgagaagctaccacttc	8	9	7	17	1	0	2	0	2	0	2	3	4	2	2	6	0	2	3	6	0	2	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1222G>C	p.Glu408Gln	p.E408Q	ENST00000444908	3/7	76	70	6	84	84	0	varscan-mutect	TCAF2,missense_variant,p.Glu408Gln,ENST00000441159,;TCAF2,missense_variant,p.Glu408Gln,ENST00000444908,NM_001130025.1;TCAF2,missense_variant,p.Glu408Gln,ENST00000357344,NM_173678.2;TCAF2,missense_variant,p.Glu244Gln,ENST00000411935,;TCAF2,missense_variant,p.Glu244Gln,ENST00000425618,NM_001130026.2;TCAF2,missense_variant,p.Glu223Gln,ENST00000518791,;RP11-298A10.1,intron_variant,,ENST00000636919,;RP11-298A10.1,intron_variant,,ENST00000636123,;	C	ENST00000444908	Transcript	missense_variant	1307/2976	1222/2538	408/845	E/Q	Gag/Cag		1		1	TCAF2	HGNC	HGNC:26878	protein_coding	YES	CCDS34769.1	ENSP00000412724	A6NFQ2		UPI00001AF3A8	NM_001130025.1	tolerated(0.33)		3/7		hmmpanther:PTHR15730,hmmpanther:PTHR15730:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	143720281	143720281	G	C	1	0	0	0	0	1	0	0	0	16071	1291	45	4		4	TCAF2	7	143720281	Missense_Mutation	SNP	G	C3N-00294_TP	337689	143720281	15625692	594	14096											
OR2A5	0	.	GRCh38	chr7	144050520	144050520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atacgtcttcaccctgctggGaaatggggccatcctggggc	7	9	13	12	1	2	0	1	0	1	0	3	1	3	1	3	5	2	1	3	5	2	2			C3N-00294_TP	C3N-00294_NB	G	G																c.119G>T	p.Gly40Val	p.G40V	ENST00000408906	1/1	90	82	8	45	45	0	strelka-varscan-mutect	OR2A5,missense_variant,p.Gly40Val,ENST00000408906,NM_012365.1;	T	ENST00000408906	Transcript	missense_variant	153/1013	119/936	40/311	G/V	gGa/gTa	COSM3635397	1		1	OR2A5	HGNC	HGNC:8232	protein_coding	YES	CCDS43668.1	ENSP00000386208	Q96R48	A0A126GW49	UPI0000061F52	NM_012365.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF232,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	46	144050520	144050520	G	T	1	0	0	0	0	1	0	0	0	11058	1174	41	2		2	OR2A5	7	144050520	Missense_Mutation	SNP	G	C3N-00294_TP	330239	144050520	15295453	595	14097											
CNTNAP2	0	.	GRCh38	chr7	148267087	148267087	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagttcatccgacaccctcTtcaattctcccaagtcgctc	9	11	4	17	2	4	0	2	0	2	0	8	1	5	0	3	0	0	2	3	0	3	3	rs372173607		C3N-00294_TP	C3N-00294_NB	T	T																c.3436T>G	p.Phe1146Val	p.F1146V	ENST00000361727	21/24	631	436	195	462	462	0	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Phe1146Val,ENST00000361727,NM_014141.5;CNTNAP2,missense_variant,p.Phe205Val,ENST00000628930,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636242,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637020,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000627772,;	G	ENST00000361727	Transcript	missense_variant	3954/9896	3436/3996	1146/1331	F/V	Ttc/Gtc	rs372173607	1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	deleterious(0)		21/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs372173607	.												G	3	3	46	148267087	148267087	T	G	1	0	0	0	0	1	0	0	0	3428	1609	56	5		5	CNTNAP2	7	148267087	Missense_Mutation	SNP	T	C3N-00294_TP	4216567	148267087	11078886	596	14098											
GIMAP4	0	.	GRCh38	chr7	150572521	150572521	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctagaagtttcatgattCtcatattcacccggaaagat	12	12	9	8	1	3	3	3	1	1	2	4	4	3	4	1	2	0	2	1	2	4	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.451C>G	p.Leu151Val	p.L151V	ENST00000255945	3/3	333	287	46	254	254	0	strelka-varscan-mutect	GIMAP4,missense_variant,p.Leu151Val,ENST00000255945,NM_018326.2;GIMAP4,missense_variant,p.Leu165Val,ENST00000461940,;GIMAP4,downstream_gene_variant,,ENST00000479232,;GIMAP4,non_coding_transcript_exon_variant,,ENST00000494750,;GIMAP4,non_coding_transcript_exon_variant,,ENST00000478135,;	G	ENST00000255945	Transcript	missense_variant	626/2060	451/990	151/329	L/V	Ctc/Gtc		1		1	GIMAP4	HGNC	HGNC:21872	protein_coding	YES	CCDS5904.1	ENSP00000255945	Q9NUV9	A0A090N7X0	UPI0000073CB0	NM_018326.2	tolerated(0.07)		3/3		Gene3D:3.40.50.300,Pfam_domain:PF04548,PROSITE_profiles:PS51720,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF57,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	150572521	150572521	C	G	1	0	0	0	0	1	0	0	0	6261	913	32	4		4	GIMAP4	7	150572521	Missense_Mutation	SNP	C	C3N-00294_TP	2305434	150572521	8773452	597	14099											
ATG9B	0	.	GRCh38	chr7	151021321	151021321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaggaccagcagcgggctgGagcggatcctgtatggggtt	7	7	19	8	2	0	0	0	0	0	0	1	4	1	4	2	7	3	4	2	7	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.830C>T	p.Ser277Phe	p.S277F	ENST00000605952	5/17	116	97	19	60	60	0	strelka-varscan-mutect	ATG9B,missense_variant,p.Ser277Phe,ENST00000469530,NM_173681.5;ATG9B,non_coding_transcript_exon_variant,,ENST00000617967,;ATG9B,non_coding_transcript_exon_variant,,ENST00000473409,;ATG9B,non_coding_transcript_exon_variant,,ENST00000466157,;ATG9B,upstream_gene_variant,,ENST00000611177,;ATG9B,missense_variant,p.Ser277Phe,ENST00000605952,;ATG9B,non_coding_transcript_exon_variant,,ENST00000473134,;	A	ENST00000605952	Transcript	missense_variant,NMD_transcript_variant	906/4572	830/2775	277/924	S/F	tCc/tTc		1		-1	ATG9B	HGNC	HGNC:21899	nonsense_mediated_decay	YES		ENSP00000475737	Q674R7		UPI00004286C0		tolerated(0.09)		5/17		Transmembrane_helices:TMhelix,hmmpanther:PTHR13038:SF14,hmmpanther:PTHR13038																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	151021321	151021321	G	A	1	0	0	0	0	1	0	0	0	1255	1174	41	3		3	ATG9B	7	151021321	Missense_Mutation	SNP	G	C3N-00294_TP	448800	151021321	8324652	598	14100											
GALNTL5	0	.	GRCh38	chr7	151971034	151971034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagtagaagcttgggcatcGaaagagaagtgccagatacc	14	7	12	8	1	1	3	1	0	0	3	2	5	1	3	2	1	3	3	2	1	5	3	rs181262306		C3N-00294_TP	C3N-00294_NB	G	G																c.337G>A	p.Glu113Lys	p.E113K	ENST00000616416	4/10	213	181	32	209	209	0	strelka-varscan-mutect	GALNTL5,missense_variant,p.Glu113Lys,ENST00000616416,;GALNTL5,missense_variant,p.Glu113Lys,ENST00000392800,NM_145292.3;GALNTL5,missense_variant,p.Glu113Lys,ENST00000431418,;GALNTL5,non_coding_transcript_exon_variant,,ENST00000468278,;GALNTL5,missense_variant,p.Glu113Lys,ENST00000416269,;GALNTL5,missense_variant,p.Glu113Lys,ENST00000414073,;GALNTL5,missense_variant,p.Glu113Lys,ENST00000426341,;GALNTL5,missense_variant,p.Glu113Lys,ENST00000448366,;GALNTL5,missense_variant,p.Glu113Lys,ENST00000416062,;	A	ENST00000616416	Transcript	missense_variant	643/1763	337/1332	113/443	E/K	Gaa/Aaa	rs181262306,COSM134242	1		1	GALNTL5	HGNC	HGNC:21725	protein_coding	YES	CCDS5929.1	ENSP00000479207	Q7Z4T8		UPI000013C82E		tolerated(0.09)		4/10		hmmpanther:PTHR11675:SF17,hmmpanther:PTHR11675											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs181262306	.												A	3	1	46	151971034	151971034	G	A	1	0	0	0	0	1	0	0	0	6092	1059	37	1		1	GALNTL5	7	151971034	Missense_Mutation	SNP	G	C3N-00294_TP	949713	151971034	7374939	599	14101											
XRCC2	0	.	GRCh38	chr7	152649174	152649174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatttgattatttcttcaGagctttgggatagtctgtgc	8	18	10	5	0	3	2	1	1	2	1	3	3	3	3	0	1	2	2	0	1	3	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.311C>T	p.Ser104Phe	p.S104F	ENST00000359321	3/3	97	79	18	87	87	0	strelka-varscan-mutect	XRCC2,missense_variant,p.Ser104Phe,ENST00000359321,NM_005431.1;XRCC2,non_coding_transcript_exon_variant,,ENST00000495707,;	A	ENST00000359321	Transcript	missense_variant	397/3067	311/843	104/280	S/F	tCt/tTt		1		-1	XRCC2	HGNC	HGNC:12829	protein_coding	YES	CCDS5933.1	ENSP00000352271	O43543		UPI000000D9C8	NM_005431.1	deleterious(0.01)		3/3		Gene3D:3.40.50.300,Pfam_domain:PF08423,PROSITE_profiles:PS50162,hmmpanther:PTHR22942,hmmpanther:PTHR22942:SF44,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	152649174	152649174	G	A	1	0	0	0	0	1	0	0	0	18012	942	33	3		3	XRCC2	7	152649174	Missense_Mutation	SNP	G	C3N-00294_TP	678140	152649174	6696799	600	14102											
PTPRN2	0	.	GRCh38	chr7	158167182	158167182	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggctggagctggccgaggGtccgcggcaggaggtcctcg	4	6	19	12	4	0	0	0	0	0	0	3	3	2	2	3	7	1	3	3	7	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.659C>G	p.Thr220Ser	p.T220S	ENST00000389418	6/23	170	152	18	171	171	0	strelka-varscan	PTPRN2,missense_variant,p.Thr220Ser,ENST00000389413,NM_130843.2;PTPRN2,missense_variant,p.Thr182Ser,ENST00000409483,NM_001308267.1;PTPRN2,missense_variant,p.Thr220Ser,ENST00000389418,NM_001308268.1,NM_002847.3;PTPRN2,missense_variant,p.Thr203Ser,ENST00000389416,NM_130842.2;PTPRN2,missense_variant,p.Thr129Ser,ENST00000404321,;	C	ENST00000389418	Transcript	missense_variant	669/4706	659/3048	220/1015	T/S	aCc/aGc		1		-1	PTPRN2	HGNC	HGNC:9677	protein_coding	YES	CCDS5947.1	ENSP00000374069	Q92932		UPI000002E7C7	NM_001308268.1,NM_002847.3	tolerated(0.13)		6/23																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	158167182	158167182	G	C	1	0	0	0	0	1	0	0	0	12962	1261	44	4		4	PTPRN2	7	158167182	Missense_Mutation	SNP	G	C3N-00294_TP	5518008	158167182	1178791	601	14103											
DLGAP2	0	.	GRCh38	chr8	1548922	1548923	+	Frame_Shift_Ins	INS	-	-	G																															ggtgctgggcgaccacgtgtINSccagcagcaccttcccgcgg																								novel		C3N-00294_TP	C3N-00294_NB	-	-																c.229_230insG	p.Ser77CysfsTer199	p.S77Cfs*199	ENST00000612087	2/11	231	124	107	313	313	0	sindel-varindel	DLGAP2,frameshift_variant,p.Ser77CysfsTer199,ENST00000612087,NM_001277161.1;DLGAP2,frameshift_variant,p.Ser94CysfsTer199,ENST00000520901,;DLGAP2,frameshift_variant,p.Ser157CysfsTer199,ENST00000637795,;DLGAP2,frameshift_variant,p.Ser156CysfsTer199,ENST00000421627,;DLGAP2,frameshift_variant,p.Ser77CysfsTer199,ENST00000637152,NM_004745.4;	G	ENST00000612087	Transcript	frameshift_variant	363-364/10088	229-230/2886	77/961	S/CX	tcc/tGcc		1		1	DLGAP2	HGNC	HGNC:2906	protein_coding	YES	CCDS75689.1	ENSP00000484215		H0YBY6	UPI0002B8CE71	NM_001277161.1			2/11		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3																	HIGH	1	insertion	5			1										PASS		.	.												G	7	5	46	1548922	1548922	-	G	1	0	1	1	0	0	0	0	0	4367	1667	58	0		0	DLGAP2	8	1548922	Frame_Shift_Ins	INS	-	C3N-00294_TP		1548922	143589714	602	14104	313	3									
DLGAP2	0	.	GRCh38	chr8	1548923	1548923	+	Missense_Mutation	SNP	C	C	A																															ggtgctgggcgaccacgtgtCcagcagcaccttcccgcgga																								novel		C3N-00294_TP	C3N-00294_NB	C	C																c.230C>A	p.Ser77Tyr	p.S77Y	ENST00000612087	2/11	248	142	106	316	316	0	strelka-mutect	DLGAP2,missense_variant,p.Ser77Tyr,ENST00000612087,NM_001277161.1;DLGAP2,missense_variant,p.Ser94Tyr,ENST00000520901,;DLGAP2,missense_variant,p.Ser157Tyr,ENST00000637795,;DLGAP2,missense_variant,p.Ser156Tyr,ENST00000421627,;DLGAP2,missense_variant,p.Ser77Tyr,ENST00000637152,NM_004745.4;	A	ENST00000612087	Transcript	missense_variant	364/10088	230/2886	77/961	S/Y	tCc/tAc		1		1	DLGAP2	HGNC	HGNC:2906	protein_coding	YES	CCDS75689.1	ENSP00000484215		H0YBY6	UPI0002B8CE71	NM_001277161.1	deleterious(0)		2/11		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	1548923	1548923	C	A	1	0	0	0	0	1	0	0	0	4367	855	30	2		2	DLGAP2	8	1548923	Missense_Mutation	SNP	C	C3N-00294_TP	1	1548923	143589713	603	14105	313	3									
DLGAP2	0	.	GRCh38	chr8	1548924	1548924	+	Silent	SNP	C	C	G																															gtgctgggcgaccacgtgtcCagcagcaccttcccgcggat																								rs750104011		C3N-00294_TP	C3N-00294_NB	C	C																c.231C>G	p.=	p.S77S	ENST00000612087	2/11	246	139	107	319	319	0	strelka-mutect	DLGAP2,synonymous_variant,p.=,ENST00000612087,NM_001277161.1;DLGAP2,synonymous_variant,p.=,ENST00000520901,;DLGAP2,synonymous_variant,p.=,ENST00000637795,;DLGAP2,synonymous_variant,p.=,ENST00000421627,;DLGAP2,synonymous_variant,p.=,ENST00000637152,NM_004745.4;	G	ENST00000612087	Transcript	synonymous_variant	365/10088	231/2886	77/961	S	tcC/tcG	rs750104011	1		1	DLGAP2	HGNC	HGNC:2906	protein_coding	YES	CCDS75689.1	ENSP00000484215		H0YBY6	UPI0002B8CE71	NM_001277161.1			2/11		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3																	LOW	1	SNV	5			1										PASS		rs750104011	.												G	2	3	46	1548924	1548924	C	G	1	0	0	0	0	0	0	0	1	4367	581	21	4		4	DLGAP2	8	1548924	Silent	SNP	C	C3N-00294_TP	1	1548924	143589712	604	14106	313	3									
SGK223	0	.	GRCh38	chr8	8318175	8318175	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagaagctgcaggagcttCagcgactgtaagagggcccc	11	5	13	12	1	1	2	1	0	0	2	1	4	1	3	2	2	4	4	2	2	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.4200G>A	p.=	p.L1400L	ENST00000615670	6/6	72	62	10	108	107	1	strelka-varscan-mutect	SGK223,synonymous_variant,p.=,ENST00000615670,;SGK223,synonymous_variant,p.=,ENST00000622241,NM_001080826.2;	T	ENST00000615670	Transcript	synonymous_variant	4465/4903	4200/4221	1400/1406	L	ctG/ctA		1		-1	SGK223	Clone_based_vega_gene		protein_coding	YES	CCDS43706.1	ENSP00000481109	Q86YV5		UPI0003EAF98F				6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972																	LOW	1	SNV	5			1										PASS		rs904964258	.												T	2	4	46	8318175	8318175	C	T	1	0	0	0	0	0	0	0	1	14469	813	29	3		3	SGK223	8	8318175	Silent	SNP	C	C3N-00294_TP	6769251	8318175	136820461	605	14107											
SGK223	0	.	GRCh38	chr8	8376440	8376440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtggggccatttttggtctCtcttccccagctgtgactca	4	14	10	13	1	3	1	1	1	2	0	5	1	4	1	3	3	1	1	3	3	0	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1969G>A	p.Glu657Lys	p.E657K	ENST00000615670	3/6	157	125	32	168	168	0	strelka-varscan-mutect	SGK223,missense_variant,p.Glu657Lys,ENST00000615670,;SGK223,missense_variant,p.Glu657Lys,ENST00000622241,NM_001080826.2;	T	ENST00000615670	Transcript	missense_variant	2234/4903	1969/4221	657/1406	E/K	Gag/Aag		1		-1	SGK223	Clone_based_vega_gene		protein_coding	YES	CCDS43706.1	ENSP00000481109	Q86YV5		UPI0003EAF98F		tolerated(0.29)		3/6		hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	8376440	8376440	C	T	1	0	0	0	0	1	0	0	0	14469	922	32	3		3	SGK223	8	8376440	Missense_Mutation	SNP	C	C3N-00294_TP	58265	8376440	136762196	606	14108											
SGK223	0	.	GRCh38	chr8	8377223	8377223	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtgggccgggggctggggctCccccgtcagcccaaggcatc	4	5	17	15	2	1	0	1	0	0	0	3	0	2	0	4	6	1	3	4	6	1	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1186G>C	p.Glu396Gln	p.E396Q	ENST00000615670	3/6	121	90	31	122	122	0	strelka-varscan-mutect	SGK223,missense_variant,p.Glu396Gln,ENST00000615670,;SGK223,missense_variant,p.Glu396Gln,ENST00000622241,NM_001080826.2;	G	ENST00000615670	Transcript	missense_variant	1451/4903	1186/4221	396/1406	E/Q	Gag/Cag		1		-1	SGK223	Clone_based_vega_gene		protein_coding	YES	CCDS43706.1	ENSP00000481109	Q86YV5		UPI0003EAF98F		deleterious(0.05)		3/6		hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	46	8377223	8377223	C	G	1	0	0	0	0	1	0	0	0	14469	864	30	4		4	SGK223	8	8377223	Missense_Mutation	SNP	C	C3N-00294_TP	783	8377223	136761413	607	14109											
NEIL2	0	.	GRCh38	chr8	11786058	11786058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcgtcgggaggtcctggtgGatcacgtggtggagttcagt	5	10	18	8	4	2	0	2	0	0	0	4	3	3	3	1	6	0	1	1	6	0	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.784G>A	p.Asp262Asn	p.D262N	ENST00000284503	5/5	307	246	61	302	302	0	strelka-varscan-mutect	NEIL2,missense_variant,p.Asp262Asn,ENST00000284503,NM_145043.2;NEIL2,missense_variant,p.Asp262Asn,ENST00000455213,;NEIL2,missense_variant,p.Asp262Asn,ENST00000436750,NM_001135746.1;NEIL2,missense_variant,p.Asp201Asn,ENST00000403422,NM_001135747.1;NEIL2,missense_variant,p.Asp146Asn,ENST00000528323,NM_001135748.1;NEIL2,3_prime_UTR_variant,,ENST00000528113,;NEIL2,non_coding_transcript_exon_variant,,ENST00000524741,;SUB1P1,upstream_gene_variant,,ENST00000524415,;	A	ENST00000284503	Transcript	missense_variant	1383/2671	784/999	262/332	D/N	Gat/Aat		1		1	NEIL2	HGNC	HGNC:18956	protein_coding	YES	CCDS5984.1	ENSP00000284503	Q969S2	A0A024R361	UPI000006D86F	NM_145043.2	deleterious(0.02)		5/5		Gene3D:1.10.8.50,Pfam_domain:PF06831,hmmpanther:PTHR22993,hmmpanther:PTHR22993:SF11,SMART_domains:SM01232,Superfamily_domains:SSF46946																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	46	11786058	11786058	G	A	1	0	0	0	0	1	0	0	0	10347	1174	41	3		3	NEIL2	8	11786058	Missense_Mutation	SNP	G	C3N-00294_TP	3408835	11786058	133352578	608	14110											
TUSC3	0	.	GRCh38	chr8	15659556	15659556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattttcctccaaaaggcaGacctaagagagctgatactt	13	10	8	10	0	0	3	0	1	0	2	2	4	2	3	3	1	2	3	3	1	4	5	rs766923947		C3N-00294_TP	C3N-00294_NB	G	G																c.476G>T	p.Arg159Ile	p.R159I	ENST00000503731	4/11	312	205	107	403	401	2	strelka-varscan-mutect	TUSC3,missense_variant,p.Arg159Ile,ENST00000382020,NM_178234.2;TUSC3,missense_variant,p.Arg159Ile,ENST00000506802,;TUSC3,missense_variant,p.Arg159Ile,ENST00000503731,NM_006765.3;TUSC3,missense_variant,p.Arg159Ile,ENST00000509380,;TUSC3,missense_variant,p.Arg113Ile,ENST00000511783,;TUSC3,non_coding_transcript_exon_variant,,ENST00000503191,;TUSC3,non_coding_transcript_exon_variant,,ENST00000507400,;TUSC3,missense_variant,p.Arg159Ile,ENST00000515859,;TUSC3,missense_variant,p.Arg159Ile,ENST00000510836,;	T	ENST00000503731	Transcript	missense_variant	624/1498	476/1047	159/348	R/I	aGa/aTa	rs766923947,COSM5079481,COSM5079482	1		1	TUSC3	HGNC	HGNC:30242	protein_coding	YES	CCDS5994.1	ENSP00000424544	Q13454		UPI000012FC21	NM_006765.3	deleterious(0)		4/11		Gene3D:3.40.30.10,Pfam_domain:PF04756,hmmpanther:PTHR12692,hmmpanther:PTHR12692:SF1,Superfamily_domains:SSF52833											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs766923947	.												T	3	4	46	15659556	15659556	G	T	1	0	0	0	0	1	0	0	0	17290	942	33	2		2	TUSC3	8	15659556	Missense_Mutation	SNP	G	C3N-00294_TP	3873498	15659556	129479080	609	14111											
VPS37A	0	.	GRCh38	chr8	17286374	17286374	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtagaagagccaaggaaGagaaacttcagcaggcgata	17	5	12	7	1	1	3	1	0	0	3	1	6	1	4	1	2	3	2	1	2	6	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1141G>T	p.Glu381Ter	p.E381*	ENST00000324849	11/12	128	109	19	166	166	0	strelka-varscan-mutect	VPS37A,stop_gained,p.Glu381Ter,ENST00000324849,NM_152415.2;VPS37A,stop_gained,p.Glu356Ter,ENST00000521829,NM_001145152.1;VPS37A,stop_gained,p.Glu154Ter,ENST00000521976,;VPS37A,3_prime_UTR_variant,,ENST00000425020,;VPS37A,3_prime_UTR_variant,,ENST00000520140,;	T	ENST00000324849	Transcript	stop_gained	1815/4906	1141/1194	381/397	E/*	Gag/Tag		1		1	VPS37A	HGNC	HGNC:24928	protein_coding	YES	CCDS6001.1	ENSP00000318629	Q8NEZ2		UPI0000039EC3	NM_152415.2			11/12		PROSITE_profiles:PS51314,hmmpanther:PTHR13678,hmmpanther:PTHR13678:SF2,Superfamily_domains:SSF140111																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	46	17286374	17286374	G	T	1	0	0	0	0	0	1	0	0	17751	943	33	2		2	VPS37A	8	17286374	Nonsense_Mutation	SNP	G	C3N-00294_TP	1626818	17286374	127852262	610	14112											
DOCK5	0	.	GRCh38	chr8	25408860	25408860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgatggataatcggctatCaccatttcacggttcttcac	9	14	8	10	2	4	1	3	1	1	0	5	2	4	2	1	3	0	3	1	3	2	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.5324C>T	p.Ser1775Leu	p.S1775L	ENST00000276440	50/52	252	209	43	302	302	0	strelka-varscan-mutect	DOCK5,missense_variant,p.Ser1775Leu,ENST00000276440,NM_024940.6;DOCK5,3_prime_UTR_variant,,ENST00000467709,;DOCK5,upstream_gene_variant,,ENST00000521405,;DOCK5,upstream_gene_variant,,ENST00000479547,;	T	ENST00000276440	Transcript	missense_variant	5368/10075	5324/5613	1775/1870	S/L	tCa/tTa		1		1	DOCK5	HGNC	HGNC:23476	protein_coding	YES	CCDS6047.1	ENSP00000276440	Q9H7D0		UPI000022D4F3	NM_024940.6	tolerated(0.11)		50/52																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	25408860	25408860	C	T	1	0	0	0	0	1	0	0	0	4505	838	29	3		3	DOCK5	8	25408860	Missense_Mutation	SNP	C	C3N-00294_TP	8122486	25408860	119729776	611	14113											
ADRA1A	0	.	GRCh38	chr8	26864248	26864248	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccgctgcctcctgccgggGcgtttttccgatggatgcgg	2	11	14	14	5	0	0	0	0	0	0	3	2	3	1	5	4	3	2	5	4	0	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.722C>G	p.Ala241Gly	p.A241G	ENST00000380586	1/3	229	136	93	209	209	0	strelka-varscan-mutect	ADRA1A,missense_variant,p.Ala241Gly,ENST00000380573,;ADRA1A,missense_variant,p.Ala241Gly,ENST00000380586,NM_033303.3;ADRA1A,missense_variant,p.Ala241Gly,ENST00000276393,NM_000680.2;ADRA1A,missense_variant,p.Ala241Gly,ENST00000380582,NM_033302.2;ADRA1A,missense_variant,p.Ala241Gly,ENST00000519229,;ADRA1A,missense_variant,p.Ala241Gly,ENST00000354550,NM_033304.2;ADRA1A,missense_variant,p.Ala241Gly,ENST00000380572,;ADRA1A,missense_variant,p.Ala241Gly,ENST00000519096,;ADRA1A,missense_variant,p.Ala241Gly,ENST00000521711,;	C	ENST00000380586	Transcript	missense_variant	1158/2304	722/1428	241/475	A/G	gCc/gGc		1		-1	ADRA1A	HGNC	HGNC:277	protein_coding	YES	CCDS34869.1	ENSP00000369960	P35348	B0ZBD3	UPI000066DA42	NM_033303.3	tolerated(0.23)		1/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00557,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF16,SMART_domains:SM01381																	MODERATE	1	SNV	1			1										PASS		rs1308349036	.												C	3	2	46	26864248	26864248	G	C	1	0	0	0	0	1	0	0	0	410	1203	42	4		4	ADRA1A	8	26864248	Missense_Mutation	SNP	G	C3N-00294_TP	1455388	26864248	118274388	612	14114											
ELP3	0	.	GRCh38	chr8	28160227	28160227	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtggctttttactaaatAggttgaattggtaaggagag	11	16	12	2	0	0	2	0	1	0	1	0	3	0	2	0	4	1	3	0	4	6	9	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.1258-2A>G		p.X420_splice	ENST00000256398		118	94	24	142	142	0	strelka-varscan-mutect	ELP3,splice_acceptor_variant,,ENST00000256398,NM_018091.5;ELP3,splice_acceptor_variant,,ENST00000521015,NM_001284222.1;ELP3,splice_acceptor_variant,,ENST00000380353,NM_001284226.1;ELP3,splice_acceptor_variant,,ENST00000537665,NM_001284225.1,NM_001284224.1;ELP3,splice_acceptor_variant,,ENST00000524103,NM_001284220.1;ELP3,splice_acceptor_variant,,ENST00000523357,;ELP3,splice_acceptor_variant,,ENST00000517975,;ELP3,downstream_gene_variant,,ENST00000520110,;ELP3,splice_acceptor_variant,,ENST00000518112,;ELP3,splice_acceptor_variant,,ENST00000519261,;ELP3,splice_acceptor_variant,,ENST00000523687,;	G	ENST00000256398	Transcript	splice_acceptor_variant	-/3452	1258/1644	420/547				1		1	ELP3	HGNC	HGNC:20696	protein_coding	YES	CCDS6065.1	ENSP00000256398	Q9H9T3		UPI000006F0B5	NM_018091.5				12/14																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	46	28160227	28160227	A	G	1	0	0	0	0	0	0	1	0	4915	434	15	5		5	ELP3	8	28160227	Splice_Site	SNP	A	C3N-00294_TP	1295979	28160227	116978409	613	14115											
KIF13B	0	.	GRCh38	chr8	29160833	29160833	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgattcccgaagactgaagaGatattccaagactctcaagc	14	9	8	10	1	1	5	1	2	1	3	4	7	3	5	2	0	1	0	2	0	5	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1304C>G	p.Ser435Cys	p.S435C	ENST00000524189	13/40	150	114	36	191	191	0	strelka-varscan-mutect	KIF13B,missense_variant,p.Ser435Cys,ENST00000524189,NM_015254.3;KIF13B,missense_variant,p.Ser435Cys,ENST00000521515,;KIF13B,3_prime_UTR_variant,,ENST00000522355,;KIF13B,3_prime_UTR_variant,,ENST00000523968,;	C	ENST00000524189	Transcript	missense_variant	1343/8745	1304/5481	435/1826	S/C	tCt/tGt		1		-1	KIF13B	HGNC	HGNC:14405	protein_coding	YES	CCDS55217.1	ENSP00000427900	Q9NQT8		UPI000035B257	NM_015254.3	deleterious(0)		13/40		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF338,Pfam_domain:PF16183																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	29160833	29160833	G	C	1	0	0	0	0	1	0	0	0	8139	942	33	4		4	KIF13B	8	29160833	Missense_Mutation	SNP	G	C3N-00294_TP	1000606	29160833	115977803	614	14116											
UNC5D	0	.	GRCh38	chr8	35766910	35766910	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcccctgcaggaagtcccGttctcccgcgtgtggtgcag	4	10	12	15	3	2	0	0	0	2	0	5	1	3	1	4	2	2	3	4	2	1	1	rs772701180		C3N-00294_TP	C3N-00294_NB	G	G																c.2322G>T	p.=	p.P774P	ENST00000404895	15/17	52	24	28	54	54	0	strelka-varscan-mutect	UNC5D,synonymous_variant,p.=,ENST00000287272,;UNC5D,synonymous_variant,p.=,ENST00000453357,;UNC5D,synonymous_variant,p.=,ENST00000416672,;UNC5D,synonymous_variant,p.=,ENST00000404895,NM_080872.2;UNC5D,synonymous_variant,p.=,ENST00000420357,;UNC5D,synonymous_variant,p.=,ENST00000449677,;	T	ENST00000404895	Transcript	synonymous_variant	2650/3252	2322/2862	774/953	P	ccG/ccT	rs772701180,COSM3899837,COSM3899838	1		1	UNC5D	HGNC	HGNC:18634	protein_coding	YES	CCDS6093.2	ENSP00000385143	Q6UXZ4		UPI00001D6915	NM_080872.2			15/17		hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF5											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs772701180	.												T	2	4	46	35766910	35766910	G	T	1	0	0	0	0	0	0	0	1	17519	1132	40	1		1	UNC5D	8	35766910	Silent	SNP	G	C3N-00294_TP	6606077	35766910	109371726	615	14117											
ASH2L	0	.	GRCh38	chr8	38110743	38110743	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttgtttttgatagacttGaaggaaatgtgccttagtgc	9	18	10	4	0	0	3	0	2	0	1	0	4	0	4	1	1	2	1	1	1	4	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.495G>C	p.Leu165Phe	p.L165F	ENST00000343823	5/16	172	139	33	173	173	0	strelka-varscan-mutect	ASH2L,missense_variant,p.Leu165Phe,ENST00000343823,NM_004674.4;ASH2L,missense_variant,p.Leu26Phe,ENST00000545394,NM_001282272.1;ASH2L,missense_variant,p.Leu71Phe,ENST00000428278,NM_001105214.2;ASH2L,missense_variant,p.Leu71Phe,ENST00000521652,NM_001261832.1;ASH2L,missense_variant,p.Leu179Phe,ENST00000517719,;ASH2L,non_coding_transcript_exon_variant,,ENST00000524263,;ASH2L,missense_variant,p.Glu117Gln,ENST00000517496,;ASH2L,upstream_gene_variant,,ENST00000522675,;	C	ENST00000343823	Transcript	missense_variant	804/3090	495/1887	165/628	L/F	ttG/ttC		1		1	ASH2L	HGNC	HGNC:744	protein_coding	YES	CCDS6101.1	ENSP00000340896	Q9UBL3		UPI0000038D65	NM_004674.4	tolerated(0.8)		5/16		hmmpanther:PTHR10598																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	38110743	38110743	G	C	1	0	0	0	0	1	0	0	0	1184	1304	45	4		4	ASH2L	8	38110743	Missense_Mutation	SNP	G	C3N-00294_TP	2343833	38110743	107027893	616	14118											
DDHD2	0	.	GRCh38	chr8	38252192	38252192	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tattctttgcctttggatctCccattggaatgttccttact	6	19	6	10	0	2	0	0	0	2	0	4	2	3	2	3	2	2	1	3	2	3	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1522C>G	p.Pro508Ala	p.P508A	ENST00000397166	13/18	132	105	27	152	152	0	strelka-varscan-mutect	DDHD2,missense_variant,p.Pro508Ala,ENST00000397166,NM_015214.2;DDHD2,missense_variant,p.Pro508Ala,ENST00000520272,NM_001164232.1;DDHD2,missense_variant,p.Pro127Ala,ENST00000517385,;DDHD2,missense_variant,p.Pro10Ala,ENST00000526144,;DDHD2,5_prime_UTR_variant,,ENST00000529845,;DDHD2,upstream_gene_variant,,ENST00000528613,;DDHD2,downstream_gene_variant,,ENST00000532106,;DDHD2,downstream_gene_variant,,ENST00000528888,;DDHD2,non_coding_transcript_exon_variant,,ENST00000520176,;DDHD2,non_coding_transcript_exon_variant,,ENST00000528504,;DDHD2,non_coding_transcript_exon_variant,,ENST00000528148,;DDHD2,downstream_gene_variant,,ENST00000527415,;DDHD2,upstream_gene_variant,,ENST00000524545,;	G	ENST00000397166	Transcript	missense_variant	2047/4921	1522/2136	508/711	P/A	Ccc/Gcc		1		1	DDHD2	HGNC	HGNC:29106	protein_coding	YES	CCDS34883.1	ENSP00000380352	O94830		UPI0000160E07	NM_015214.2	deleterious(0)		13/18		PROSITE_profiles:PS51043,hmmpanther:PTHR23509,hmmpanther:PTHR23509:SF7,Pfam_domain:PF02862,SMART_domains:SM01127																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	46	38252192	38252192	C	G	1	0	0	0	0	1	0	0	0	4130	855	30	4		4	DDHD2	8	38252192	Missense_Mutation	SNP	C	C3N-00294_TP	141449	38252192	106886444	617	14119											
ADAM9	0	.	GRCh38	chr8	39007891	39007891	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccttttctgtaggctttCaacagacctcacatctttct	7	17	5	12	0	5	1	2	0	3	1	5	1	5	1	2	1	2	2	2	1	2	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.103C>T	p.Gln35Ter	p.Q35*	ENST00000487273	2/22	97	82	15	202	202	0	strelka-mutect	ADAM9,stop_gained,p.Gln35Ter,ENST00000487273,NM_003816.2;ADAM9,stop_gained,p.Gln35Ter,ENST00000481513,;ADAM9,stop_gained,p.Gln35Ter,ENST00000466936,;ADAM9,stop_gained,p.Gln35Ter,ENST00000379917,;ADAM9,stop_gained,p.Gln35Ter,ENST00000481873,;ADAM9,stop_gained,p.Gln35Ter,ENST00000468065,;	T	ENST00000487273	Transcript	stop_gained	181/3839	103/2460	35/819	Q/*	Caa/Taa		1		1	ADAM9	HGNC	HGNC:216	protein_coding	YES	CCDS6112.1	ENSP00000419446	Q13443		UPI0000048D87	NM_003816.2			2/22		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF136																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	46	39007891	39007891	C	T	1	0	0	0	0	0	1	0	0	297	840	29	3		3	ADAM9	8	39007891	Nonsense_Mutation	SNP	C	C3N-00294_TP	755699	39007891	106130745	618	14120											
ADAM9	0	.	GRCh38	chr8	39013981	39013981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagagaccttttgcctgaaGattttgtggtttatacttac	9	16	8	8	0	0	3	0	1	0	2	0	4	0	3	3	1	3	1	3	1	4	8	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.271G>A	p.Asp91Asn	p.D91N	ENST00000487273	4/22	178	157	21	248	248	0	strelka-varscan-mutect	ADAM9,missense_variant,p.Asp91Asn,ENST00000487273,NM_003816.2;ADAM9,missense_variant,p.Asp91Asn,ENST00000481513,;ADAM9,missense_variant,p.Asp91Asn,ENST00000466936,;SNORD38,downstream_gene_variant,,ENST00000384470,;ADAM9,missense_variant,p.Asp91Asn,ENST00000379917,;ADAM9,missense_variant,p.Asp91Asn,ENST00000481873,;ADAM9,missense_variant,p.Asp91Asn,ENST00000468065,;ADAM9,upstream_gene_variant,,ENST00000481058,;	A	ENST00000487273	Transcript	missense_variant	349/3839	271/2460	91/819	D/N	Gat/Aat		1		1	ADAM9	HGNC	HGNC:216	protein_coding	YES	CCDS6112.1	ENSP00000419446	Q13443		UPI0000048D87	NM_003816.2	tolerated(0.19)		4/22		Pfam_domain:PF01562,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF136																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	39013981	39013981	G	A	1	0	0	0	0	1	0	0	0	297	942	33	3		3	ADAM9	8	39013981	Missense_Mutation	SNP	G	C3N-00294_TP	6090	39013981	106124655	619	14121											
ADAM9	0	.	GRCh38	chr8	39017327	39017327	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgtctacaaagagcctctGaaatgtggagtttccaacaa	14	10	9	8	0	2	2	0	1	2	1	3	4	3	3	2	1	3	1	2	1	5	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.519G>C	p.=	p.L173L	ENST00000487273	6/22	254	218	36	311	311	0	strelka-varscan-mutect	ADAM9,synonymous_variant,p.=,ENST00000487273,NM_003816.2;ADAM9,downstream_gene_variant,,ENST00000481513,;ADAM9,downstream_gene_variant,,ENST00000466936,;SNORD38,downstream_gene_variant,,ENST00000384470,;ADAM9,synonymous_variant,p.=,ENST00000379917,;ADAM9,synonymous_variant,p.=,ENST00000481873,;ADAM9,synonymous_variant,p.=,ENST00000468065,;ADAM9,non_coding_transcript_exon_variant,,ENST00000481058,;	C	ENST00000487273	Transcript	synonymous_variant	597/3839	519/2460	173/819	L	ctG/ctC		1		1	ADAM9	HGNC	HGNC:216	protein_coding	YES	CCDS6112.1	ENSP00000419446	Q13443		UPI0000048D87	NM_003816.2			6/22		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF136																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	46	39017327	39017327	G	C	1	0	0	0	0	0	0	0	1	297	1277	45	4		4	ADAM9	8	39017327	Silent	SNP	G	C3N-00294_TP	3346	39017327	106121309	620	14122											
SPIDR	0	.	GRCh38	chr8	47440367	47440367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaattttagagctgcatGaggaatgtgccatgcaagtt	13	12	11	5	0	0	3	0	2	0	1	0	4	0	4	1	1	4	4	1	1	5	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.922G>A	p.Glu308Lys	p.E308K	ENST00000297423	8/20	283	234	49	278	278	0	strelka-varscan-mutect	SPIDR,missense_variant,p.Glu308Lys,ENST00000297423,NM_001080394.3;SPIDR,missense_variant,p.Glu238Lys,ENST00000541342,NM_001282916.1;SPIDR,missense_variant,p.Glu248Lys,ENST00000518074,NM_001282919.1;SPIDR,5_prime_UTR_variant,,ENST00000524006,;SPIDR,upstream_gene_variant,,ENST00000519401,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521214,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521550,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521918,;SPIDR,3_prime_UTR_variant,,ENST00000522117,;SPIDR,3_prime_UTR_variant,,ENST00000524126,;SPIDR,3_prime_UTR_variant,,ENST00000519661,;SPIDR,3_prime_UTR_variant,,ENST00000524033,;SPIDR,3_prime_UTR_variant,,ENST00000517824,;SPIDR,non_coding_transcript_exon_variant,,ENST00000524141,;	A	ENST00000297423	Transcript	missense_variant	1306/3988	922/2748	308/915	E/K	Gag/Aag		1		1	SPIDR	HGNC	HGNC:28971	protein_coding	YES	CCDS43737.1	ENSP00000297423	Q14159		UPI0000253B92	NM_001080394.3	deleterious(0)		8/20		Pfam_domain:PF14950,hmmpanther:PTHR34347,hmmpanther:PTHR34347:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	47440367	47440367	G	A	1	0	0	0	0	1	0	0	0	15404	1291	45	3		3	SPIDR	8	47440367	Missense_Mutation	SNP	G	C3N-00294_TP	8423040	47440367	97698269	621	14123											
RP1	0	.	GRCh38	chr8	54627955	54627955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatactgataacttggattCaactgaagagttagaaagag	17	11	9	4	0	1	5	1	2	0	3	1	6	1	6	0	1	3	1	0	1	7	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.4073C>T	p.Ser1358Leu	p.S1358L	ENST00000220676	4/4	233	179	54	329	329	0	strelka-varscan-mutect	RP1,missense_variant,p.Ser1358Leu,ENST00000220676,NM_006269.1;RP1,intron_variant,,ENST00000637698,;RP1,intron_variant,,ENST00000636932,;	T	ENST00000220676	Transcript	missense_variant	4221/7100	4073/6471	1358/2156	S/L	tCa/tTa		1		1	RP1	HGNC	HGNC:10263	protein_coding	YES	CCDS6160.1	ENSP00000220676	P56715		UPI000013455B	NM_006269.1	tolerated(1)		4/4		hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	54627955	54627955	C	T	1	0	0	0	0	1	0	0	0	13709	838	29	3		3	RP1	8	54627955	Missense_Mutation	SNP	C	C3N-00294_TP	7187588	54627955	90510681	622	14124											
RP1	0	.	GRCh38	chr8	54649134	54649134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgatttcaggttggccatGaagacatatttactgtaagt	11	14	9	7	1	1	2	1	1	0	1	2	3	1	2	1	2	1	2	1	2	4	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.937G>A	p.Glu313Lys	p.E313K	ENST00000637698	4/29	64	52	12	55	55	0	strelka-varscan-mutect	RP1,missense_variant,p.Glu313Lys,ENST00000637698,;RP1,missense_variant,p.Glu313Lys,ENST00000636932,;	A	ENST00000637698	Transcript	missense_variant	1085/6177	937/4251	313/1416	E/K	Gaa/Aaa		1		1	RP1	HGNC	HGNC:10263	protein_coding			ENSP00000490104					tolerated(0.11)		4/29		PROSITE_profiles:PS50095,Gene3D:2.60.60.20,Pfam_domain:PF01477,SMART_domains:SM00308,Superfamily_domains:SSF49723																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	46	54649134	54649134	G	A	1	0	0	0	0	1	0	0	0	13709	1291	45	3		3	RP1	8	54649134	Missense_Mutation	SNP	G	C3N-00294_TP	21179	54649134	90489502	623	14125											
IMPAD1	0	.	GRCh38	chr8	56980072	56980072	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatcaagtgggtcaatccaGacagtaacactttctgctgg	11	10	10	10	0	3	1	2	0	1	1	4	1	4	1	1	2	2	3	1	2	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.513C>T	p.=	p.V171V	ENST00000262644	2/5	252	198	54	320	320	0	strelka-varscan-mutect	IMPAD1,synonymous_variant,p.=,ENST00000262644,NM_017813.4;IMPAD1,intron_variant,,ENST00000517461,;IMPAD1,synonymous_variant,p.=,ENST00000520392,;	A	ENST00000262644	Transcript	synonymous_variant	772/7199	513/1080	171/359	V	gtC/gtT		1		-1	IMPAD1	HGNC	HGNC:26019	protein_coding	YES	CCDS6169.1	ENSP00000262644	Q9NX62	A0A024R7W0	UPI000006DE7A	NM_017813.4			2/5		hmmpanther:PTHR20854,hmmpanther:PTHR20854:SF23,Pfam_domain:PF00459,Gene3D:3.30.540.10,Superfamily_domains:SSF56655																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	56980072	56980072	G	A	1	0	0	0	0	0	0	0	1	7627	929	33	3		3	IMPAD1	8	56980072	Silent	SNP	G	C3N-00294_TP	2330938	56980072	88158564	624	14126											
COPS5	0	.	GRCh38	chr8	67059385	67059410	+	Frame_Shift_Del	DEL	ATGCATCACCATCTTCAGCAGAGCCA	ATGCATCACCATCTTCAGCAGAGCCA	-																															aagttgcctcccgatctggcAtgcatcaccatcttcagcag																								novel		C3N-00294_TP	C3N-00294_NB	ATGCATCACCATCTTCAGCAGAGCCA	ATGCATCACCATCTTCAGCAGAGCCA																c.179_204delTGGCTCTGCTGAAGATGGTGATGCAT	p.Leu60CysfsTer20	p.L60Cfs*20	ENST00000357849	2/8	269	214	55	321	321	0	sindel-pindel	COPS5,frameshift_variant,p.Leu60CysfsTer20,ENST00000357849,NM_006837.2;COPS5,coding_sequence_variant,,ENST00000517736,;COPS5,coding_sequence_variant,,ENST00000518747,;CSPP1,upstream_gene_variant,,ENST00000262210,NM_024790.6;CSPP1,upstream_gene_variant,,ENST00000521919,;COPS5,non_coding_transcript_exon_variant,,ENST00000517793,;COPS5,downstream_gene_variant,,ENST00000519963,;COPS5,upstream_gene_variant,,ENST00000523086,;PPP1R42,upstream_gene_variant,,ENST00000517834,;COPS5,downstream_gene_variant,,ENST00000519057,;COPS5,downstream_gene_variant,,ENST00000518768,;COPS5,3_prime_UTR_variant,,ENST00000518374,;COPS5,3_prime_UTR_variant,,ENST00000523890,;COPS5,non_coding_transcript_exon_variant,,ENST00000521386,;COPS5,non_coding_transcript_exon_variant,,ENST00000521509,;COPS5,downstream_gene_variant,,ENST00000517406,;	-	ENST00000357849	Transcript	frameshift_variant	500-525/1480	179-204/1005	60-68/334	LALLKMVMH/X	tTGGCTCTGCTGAAGATGGTGATGCAT/t		1		-1	COPS5	HGNC	HGNC:2240	protein_coding	YES	CCDS6198.1	ENSP00000350512	Q92905	A0A024R7W9	UPI000006D7AB	NM_006837.2			2/8		Superfamily_domains:0048572,Gene3D:3.40.140.10,Pfam_domain:PF01398,hmmpanther:PTHR10410,hmmpanther:PTHR10410:SF6,SMART_domains:SM00232																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	46	67059385	67059385	ATGCATCACCATCTTCAGCAGAGCCA	-	1	0	1	0	1	0	0	0	0	3529	214	8	0		0	COPS5	8	67059385	Frame_Shift_Del	DEL	ATGCATCACCATCTTCAGCAGAGCCA	C3N-00294_TP	10079313	67059385	78079251	625	14127											
CSPP1	0	.	GRCh38	chr8	67113861	67113861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcacaagaccctgagaaatCggtaagggtttctggcatct	12	9	11	9	1	2	2	0	1	2	2	3	3	2	2	1	3	1	4	1	3	3	2	rs750389579		C3N-00294_TP	C3N-00294_NB	C	C																c.1271C>T	p.Ser424Leu	p.S424L	ENST00000262210	10/29	134	111	23	142	142	0	strelka-varscan-mutect	CSPP1,missense_variant,p.Ser424Leu,ENST00000262210,NM_024790.6;CSPP1,missense_variant,p.Ser130Leu,ENST00000519668,NM_001291339.1;CSPP1,3_prime_UTR_variant,,ENST00000519163,;	T	ENST00000262210	Transcript	missense_variant,splice_region_variant	1302/4367	1271/3666	424/1221	S/L	tCg/tTg	rs750389579,COSM3942726	1		1	CSPP1	HGNC	HGNC:26193	protein_coding	YES	CCDS43744.1	ENSP00000262210	Q1MSJ5		UPI00005A95D7	NM_024790.6	tolerated(0.22)		10/29		hmmpanther:PTHR21616											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs750389579	.												T	3	4	46	67113861	67113861	C	T	1	0	0	0	0	1	0	0	0	3763	898	31	1		1	CSPP1	8	67113861	Missense_Mutation	SNP	C	C3N-00294_TP	54476	67113861	78024775	626	14128											
NCOA2	0	.	GRCh38	chr8	70128887	70128887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accctgggccatttgtgcctGagatgcatactgctgtggga	7	11	13	10	0	0	1	0	1	0	1	0	3	0	2	3	2	4	2	3	2	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3418C>G	p.Gln1140Glu	p.Q1140E	ENST00000452400	17/23	382	301	81	433	433	0	strelka-varscan-mutect	NCOA2,missense_variant,p.Gln1140Glu,ENST00000452400,NM_001321703.1,NM_001321707.1,NM_001321713.1,NM_006540.2;NCOA2,missense_variant,p.Gln266Glu,ENST00000518363,;NCOA2,3_prime_UTR_variant,,ENST00000518287,;NCOA2,upstream_gene_variant,,ENST00000521239,;	C	ENST00000452400	Transcript	missense_variant	3600/8447	3418/4395	1140/1464	Q/E	Cag/Gag		1		-1	NCOA2	HGNC	HGNC:7669	protein_coding	YES	CCDS47872.1	ENSP00000399968	Q15596		UPI000012FE42	NM_001321703.1,NM_001321707.1,NM_001321713.1,NM_006540.2	deleterious(0.05)		17/23		hmmpanther:PTHR10684:SF2,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	70128887	70128887	G	C	1	0	0	0	0	1	0	0	0	10248	1299	45	4		4	NCOA2	8	70128887	Missense_Mutation	SNP	G	C3N-00294_TP	3015026	70128887	75009749	627	14129											
TERF1	0	.	GRCh38	chr8	73008992	73008992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaaacagagagaaacgacGaggagcagttcgaatgccag	17	3	13	8	3	0	3	0	0	0	3	1	8	0	4	1	1	4	2	1	1	3	1			C3N-00294_TP	C3N-00294_NB	G	G																c.106G>A	p.Glu36Lys	p.E36K	ENST00000276603	1/10	127	112	15	130	130	0	strelka-varscan-mutect	TERF1,missense_variant,p.Glu36Lys,ENST00000276602,NM_003218.3;TERF1,missense_variant,p.Glu36Lys,ENST00000276603,NM_017489.2;TERF1,missense_variant,p.Glu36Lys,ENST00000518874,;TERF1,upstream_gene_variant,,ENST00000517390,;TERF1,non_coding_transcript_exon_variant,,ENST00000518695,;	A	ENST00000276603	Transcript	missense_variant	129/1677	106/1320	36/439	E/K	Gag/Aag	COSM3650814,COSM3650815	1		1	TERF1	HGNC	HGNC:11728	protein_coding	YES	CCDS6211.1	ENSP00000276603	P54274		UPI000013DAD5	NM_017489.2	tolerated_low_confidence(0.07)		1/10		PIRSF_domain:PIRSF038016,hmmpanther:PTHR21717,hmmpanther:PTHR21717:SF14,Low_complexity_(Seg):seg											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	46	73008992	73008992	G	A	1	0	0	0	0	1	0	0	0	16180	1059	37	1		1	TERF1	8	73008992	Missense_Mutation	SNP	G	C3N-00294_TP	2880105	73008992	72129644	628	14130											
FABP9	0	.	GRCh38	chr8	81458434	81458434	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atattattcattttacattcCtaaaagcaaagaggaatcta	17	14	4	6	0	2	1	1	0	1	1	3	2	3	2	1	1	2	1	1	1	8	8	rs768459707		C3N-00294_TP	C3N-00294_NB	C	C																c.349-1G>C		p.X117_splice	ENST00000379071		73	50	23	95	95	0	strelka-varscan-mutect	FABP9,splice_acceptor_variant,,ENST00000379071,NM_001080526.1;RP11-157I4.4,intron_variant,,ENST00000524085,;	G	ENST00000379071	Transcript	splice_acceptor_variant	-/497	349/399	117/132			rs768459707	1		-1	FABP9	HGNC	HGNC:3563	protein_coding	YES		ENSP00000368362	Q0Z7S8		UPI000004D28E	NM_001080526.1				3/3																		HIGH	1	SNV	2			1										PASS		rs768459707	.												G	5	3	46	81458434	81458434	C	G	1	0	0	0	0	0	0	1	0	5235	695	24	4		4	FABP9	8	81458434	Splice_Site	SNP	C	C3N-00294_TP	8449442	81458434	63680202	629	14131											
CHMP4C	0	.	GRCh38	chr8	81755438	81755438	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatatcgcccaagaaatctCagaagcattttctcaacggg	13	9	9	10	2	2	2	2	0	2	2	5	3	2	3	1	2	2	1	1	2	5	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.437C>G	p.Ser146Ter	p.S146*	ENST00000297265	3/5	132	109	23	166	165	1	strelka-varscan-mutect	CHMP4C,stop_gained,p.Ser146Ter,ENST00000297265,NM_152284.3;	G	ENST00000297265	Transcript	stop_gained	630/1866	437/702	146/233	S/*	tCa/tGa		1		1	CHMP4C	HGNC	HGNC:30599	protein_coding	YES	CCDS6233.1	ENSP00000297265	Q96CF2		UPI000005032A	NM_152284.3			3/5		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22761,hmmpanther:PTHR22761:SF13,Pfam_domain:PF03357																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	46	81755438	81755438	C	G	1	0	0	0	0	0	1	0	0	3118	838	29	4		4	CHMP4C	8	81755438	Nonsense_Mutation	SNP	C	C3N-00294_TP	297004	81755438	63383198	630	14132											
LAPTM4B	0	.	GRCh38	chr8	97776039	97776039	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgcgccctggacgcggttCtactccaacagctgctgctt	5	10	11	15	4	1	0	0	0	1	0	3	1	2	1	2	2	5	4	2	2	2	3	rs758949119		C3N-00294_TP	C3N-00294_NB	C	C																c.303C>G	p.Phe101Leu	p.F101L	ENST00000445593	1/7	281	218	63	284	284	0	strelka-varscan-mutect	LAPTM4B,missense_variant,p.Phe101Leu,ENST00000445593,;LAPTM4B,missense_variant,p.Phe101Leu,ENST00000619747,NM_018407.4;LAPTM4B,missense_variant,p.Phe10Leu,ENST00000521545,;LAPTM4B,missense_variant,p.Phe10Leu,ENST00000517924,;Y_RNA,downstream_gene_variant,,ENST00000365529,;	G	ENST00000445593	Transcript	missense_variant	983/3173	303/954	101/317	F/L	ttC/ttG	rs758949119	1		1	LAPTM4B	HGNC	HGNC:13646	protein_coding	YES	CCDS6275.1	ENSP00000402301	Q86VI4		UPI000018F5E2		tolerated(0.3)		1/7		hmmpanther:PTHR12479:SF6,hmmpanther:PTHR12479																	MODERATE	1	SNV	1			1										PASS		rs758949119	.												G	3	3	46	97776039	97776039	C	G	1	0	0	0	0	1	0	0	0	8535	912	32	4		4	LAPTM4B	8	97776039	Missense_Mutation	SNP	C	C3N-00294_TP	16020601	97776039	47362597	631	14133											
PABPC1	0	.	GRCh38	chr8	100715486	100715486	+	Missense_Mutation	SNP	G	G	A																															cttgccaaagagatccttaaGgcgctcatcatccatgtctt																								rs200538577		C3N-00294_TP	C3N-00294_NB	G	G																c.619C>T	p.Leu207Phe	p.L207F	ENST00000318607	4/15	71	60	11	84	83	1	strelka-varscan	PABPC1,missense_variant,p.Leu207Phe,ENST00000318607,NM_002568.3;PABPC1,missense_variant,p.Leu162Phe,ENST00000519004,;PABPC1,missense_variant,p.Leu175Phe,ENST00000522387,;PABPC1,missense_variant,p.Leu182Phe,ENST00000610907,;PABPC1,missense_variant,p.Leu79Phe,ENST00000519100,;PABPC1,missense_variant,p.Leu154Phe,ENST00000523555,;PABPC1,downstream_gene_variant,,ENST00000520142,;PABPC1,downstream_gene_variant,,ENST00000518196,;PABPC1,downstream_gene_variant,,ENST00000521865,;PABPC1,downstream_gene_variant,,ENST00000522720,;PABPC1,upstream_gene_variant,,ENST00000517403,;PABPC1,non_coding_transcript_exon_variant,,ENST00000519596,;PABPC1,missense_variant,p.Leu5Phe,ENST00000519622,;PABPC1,non_coding_transcript_exon_variant,,ENST00000517921,;PABPC1,upstream_gene_variant,,ENST00000523636,;	A	ENST00000318607	Transcript	missense_variant	1748/3485	619/1911	207/636	L/F	Ctt/Ttt	rs200538577	1		-1	PABPC1	HGNC	HGNC:8554	protein_coding	YES	CCDS6289.1	ENSP00000313007	P11940	A0A024R9C1	UPI0000000BC4	NM_002568.3	tolerated(0.1)		4/15		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	100715486	100715486	G	A	1	0	0	0	0	1	0	0	0	11440	1000	35	3		3	PABPC1	8	100715486	Missense_Mutation	SNP	G	C3N-00294_TP	2939447	100715486	44423150	632	14134	314	2									
PABPC1	0	.	GRCh38	chr8	100715488	100715488	+	Missense_Mutation	SNP	C	C	T																															tgccaaagagatccttaaggCgctcatcatccatgtcttct																								rs201157005		C3N-00294_TP	C3N-00294_NB	C	C																c.617G>A	p.Arg206His	p.R206H	ENST00000318607	4/15	71	61	10	86	85	1	strelka-varscan	PABPC1,missense_variant,p.Arg206His,ENST00000318607,NM_002568.3;PABPC1,missense_variant,p.Arg161His,ENST00000519004,;PABPC1,missense_variant,p.Arg174His,ENST00000522387,;PABPC1,missense_variant,p.Arg181His,ENST00000610907,;PABPC1,missense_variant,p.Arg78His,ENST00000519100,;PABPC1,missense_variant,p.Arg153His,ENST00000523555,;PABPC1,downstream_gene_variant,,ENST00000520142,;PABPC1,downstream_gene_variant,,ENST00000518196,;PABPC1,downstream_gene_variant,,ENST00000521865,;PABPC1,downstream_gene_variant,,ENST00000522720,;PABPC1,upstream_gene_variant,,ENST00000517403,;PABPC1,non_coding_transcript_exon_variant,,ENST00000519596,;PABPC1,missense_variant,p.Arg4His,ENST00000519622,;PABPC1,non_coding_transcript_exon_variant,,ENST00000517921,;PABPC1,upstream_gene_variant,,ENST00000523636,;	T	ENST00000318607	Transcript	missense_variant	1746/3485	617/1911	206/636	R/H	cGc/cAc	rs201157005	1		-1	PABPC1	HGNC	HGNC:8554	protein_coding	YES	CCDS6289.1	ENSP00000313007	P11940	A0A024R9C1	UPI0000000BC4	NM_002568.3	tolerated(0.23)		4/15		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	100715488	100715488	C	T	1	0	0	0	0	1	0	0	0	11440	768	27	1		1	PABPC1	8	100715488	Missense_Mutation	SNP	C	C3N-00294_TP	2	100715488	44423148	633	14135	314	2									
KLF10	0	.	GRCh38	chr8	102651295	102651295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggggaaaacccaggagcaGgggcaatgggagagagtctg	14	3	18	6	0	1	1	0	0	1	1	1	5	1	4	1	6	2	2	1	6	4	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1037C>T	p.Pro346Leu	p.P346L	ENST00000285407	3/4	39	31	8	59	59	0	strelka-varscan-mutect	KLF10,missense_variant,p.Pro335Leu,ENST00000395884,NM_001032282.3;KLF10,missense_variant,p.Pro346Leu,ENST00000285407,NM_005655.3;	A	ENST00000285407	Transcript	missense_variant	1338/3097	1037/1443	346/480	P/L	cCt/cTt		1		-1	KLF10	HGNC	HGNC:11810	protein_coding	YES	CCDS6294.1	ENSP00000285407	Q13118		UPI000012DED8	NM_005655.3	deleterious(0)		3/4																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	102651295	102651295	G	A	1	0	0	0	0	1	0	0	0	8203	1000	35	3		3	KLF10	8	102651295	Missense_Mutation	SNP	G	C3N-00294_TP	1935807	102651295	42487341	634	14136											
RIMS2	0	.	GRCh38	chr8	103975364	103975364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttagattatcgacatgatGgtcgagatcttcaaagctca	12	13	8	8	2	3	3	2	1	1	2	5	5	3	3	0	1	1	1	0	1	3	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2785G>A	p.Gly929Ser	p.G929S	ENST00000504942	16/24	105	79	26	118	118	0	strelka-varscan-mutect	RIMS2,missense_variant,p.Gly721Ser,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Gly707Ser,ENST00000436393,;RIMS2,missense_variant,p.Gly929Ser,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Gly871Ser,ENST00000626043,;RIMS2,missense_variant,p.Gly721Ser,ENST00000408894,;RIMS2,missense_variant,p.Gly768Ser,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Gly917Ser,ENST00000632716,;RIMS2,missense_variant,p.Gly323Ser,ENST00000507677,;	A	ENST00000504942	Transcript	missense_variant	2924/4228	2785/4050	929/1349	G/S	Ggt/Agt		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	tolerated_low_confidence(0.12)		16/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	46	103975364	103975364	G	A	1	0	0	0	0	1	0	0	0	13543	1348	47	3		3	RIMS2	8	103975364	Missense_Mutation	SNP	G	C3N-00294_TP	1324069	103975364	41163272	635	14137											
TRHR	0	.	GRCh38	chr8	109119378	109119378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatgatatcactgtcactGacacttacctgtctgccaca	10	13	6	12	0	3	3	2	3	1	0	3	3	3	3	2	0	2	0	2	0	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1120G>A	p.Asp374Asn	p.D374N	ENST00000518632	3/3	76	63	13	74	74	0	strelka-varscan-mutect	TRHR,missense_variant,p.Asp374Asn,ENST00000518632,;TRHR,missense_variant,p.Asp374Asn,ENST00000311762,NM_003301.5;	A	ENST00000518632	Transcript	missense_variant	1471/1660	1120/1197	374/398	D/N	Gac/Aac		1		1	TRHR	HGNC	HGNC:12299	protein_coding	YES	CCDS6311.1	ENSP00000430711	P34981		UPI0000050437		tolerated(0.24)		3/3		Prints_domain:PR00751,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF115																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	109119378	109119378	G	A	1	0	0	0	0	1	0	0	0	16969	1290	45	3		3	TRHR	8	109119378	Missense_Mutation	SNP	G	C3N-00294_TP	5144014	109119378	36019258	636	14138											
PKHD1L1	0	.	GRCh38	chr8	109408193	109408193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagccactcactctatggtCatcagaagctgaagtacggt	12	10	9	10	1	4	2	3	1	1	1	4	2	4	2	1	2	3	2	1	2	5	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1958C>T	p.Ser653Leu	p.S653L	ENST00000378402	18/78	83	73	10	63	63	0	strelka-mutect	PKHD1L1,missense_variant,p.Ser653Leu,ENST00000378402,NM_177531.4;	T	ENST00000378402	Transcript	missense_variant	2062/13076	1958/12732	653/4243	S/L	tCa/tTa		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	deleterious(0.01)		18/78																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	109408193	109408193	C	T	1	0	0	0	0	1	0	0	0	12068	838	29	3		3	PKHD1L1	8	109408193	Missense_Mutation	SNP	C	C3N-00294_TP	288815	109408193	35730443	637	14139											
CSMD3	0	.	GRCh38	chr8	112292569	112292569	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggaggatggctccactgtCtgttggcctggcactgtgcc	4	11	15	11	0	1	0	0	0	1	0	2	2	2	2	3	5	1	3	3	5	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.8756G>C	p.Arg2919Thr	p.R2919T	ENST00000297405	55/71	267	210	57	248	248	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Arg2919Thr,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Arg2879Thr,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Arg2750Thr,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Arg2189Thr,ENST00000339701,;	G	ENST00000297405	Transcript	missense_variant	9001/13212	8756/11124	2919/3707	R/T	aGa/aCa		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0.03)		55/71		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	112292569	112292569	C	G	1	0	0	0	0	1	0	0	0	3747	913	32	4		4	CSMD3	8	112292569	Missense_Mutation	SNP	C	C3N-00294_TP	2884376	112292569	32846067	638	14140											
RAD21	0	.	GRCh38	chr8	116852630	116852630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaattctttgaggaattcatCcaaattatctgcctctcctc	11	15	4	11	0	4	1	1	1	3	0	7	2	5	2	3	1	1	0	3	1	4	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1240G>A	p.Asp414Asn	p.D414N	ENST00000297338	10/14	130	115	15	106	106	0	strelka-varscan-mutect	RAD21,missense_variant,p.Asp414Asn,ENST00000297338,NM_006265.2;RAD21,upstream_gene_variant,,ENST00000523986,;RAD21,upstream_gene_variant,,ENST00000517749,;RAD21,upstream_gene_variant,,ENST00000518055,;RAD21,downstream_gene_variant,,ENST00000517485,;RAD21,downstream_gene_variant,,ENST00000520992,;UTP23,downstream_gene_variant,,ENST00000517820,;UTP23,downstream_gene_variant,,ENST00000520733,;AC087350.1,downstream_gene_variant,,ENST00000626876,;RAD21,downstream_gene_variant,,ENST00000523547,;UTP23,downstream_gene_variant,,ENST00000521703,;UTP23,downstream_gene_variant,,ENST00000524128,;	T	ENST00000297338	Transcript	missense_variant	1528/3749	1240/1896	414/631	D/N	Gat/Aat		1		-1	RAD21	HGNC	HGNC:9811	protein_coding	YES	CCDS6321.1	ENSP00000297338	O60216	A0A024R9J0	UPI0000133018	NM_006265.2	deleterious(0.03)		10/14		hmmpanther:PTHR12585,hmmpanther:PTHR12585:SF20																	MODERATE	1	SNV	1			1										PASS		rs1419651477	.												T	3	4	46	116852630	116852630	C	T	1	0	0	0	0	1	0	0	0	13141	855	30	3		3	RAD21	8	116852630	Missense_Mutation	SNP	C	C3N-00294_TP	4560061	116852630	28286006	639	14141											
EXT1	0	.	GRCh38	chr8	118110879	118110879	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcagagcgtccgggaagcgGggccagaaatgatccggact	10	4	16	11	5	0	3	0	1	0	2	2	5	2	5	3	4	2	1	3	4	2	0	rs776965915		C3N-00294_TP	C3N-00294_NB	G	G																c.168C>T	p.=	p.P56P	ENST00000378204	1/11	166	135	31	181	181	0	strelka-varscan-mutect	EXT1,synonymous_variant,p.=,ENST00000378204,NM_000127.2;EXT1,upstream_gene_variant,,ENST00000436216,;EXT1,intron_variant,,ENST00000437196,;	A	ENST00000378204	Transcript	synonymous_variant	975/8270	168/2241	56/746	P	ccC/ccT	rs776965915	1		-1	EXT1	HGNC	HGNC:3512	protein_coding	YES	CCDS6324.1	ENSP00000367446	Q16394		UPI000012A3A1	NM_000127.2			1/11		hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF97																	LOW	1	SNV	1			1										PASS		rs776965915	.												A	2	1	46	118110879	118110879	G	A	1	0	0	0	0	0	0	0	1	5191	1219	43	3		3	EXT1	8	118110879	Silent	SNP	G	C3N-00294_TP	1258249	118110879	27027757	640	14142											
SAMD12	0	.	GRCh38	chr8	118580766	118580766	+	Silent	SNP	A	A	T																															ttgggagttcctttctggtcAggcaccttctggaaattttt																								novel		C3N-00294_TP	C3N-00294_NB	A	A																c.141T>A	p.=	p.P47P	ENST00000314727	2/4	135	76	59	146	146	0	strelka-varscan-mutect	SAMD12,synonymous_variant,p.=,ENST00000409003,NM_001101676.1;SAMD12,synonymous_variant,p.=,ENST00000314727,NM_207506.2;SAMD12,synonymous_variant,p.=,ENST00000453675,;SAMD12,synonymous_variant,p.=,ENST00000524796,;SAMD12,synonymous_variant,p.=,ENST00000526328,;SAMD12,synonymous_variant,p.=,ENST00000526765,;SAMD12,synonymous_variant,p.=,ENST00000445741,;	T	ENST00000314727	Transcript	synonymous_variant	278/2172	141/606	47/201	P	ccT/ccA		1		-1	SAMD12	HGNC	HGNC:31750	protein_coding	YES	CCDS6325.1	ENSP00000314173	Q8N8I0		UPI000013F8F1	NM_207506.2			2/4		hmmpanther:PTHR20843:SF2,hmmpanther:PTHR20843																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	118580766	118580766	A	T	1	0	0	0	0	0	0	0	1	14076	175	7	4		4	SAMD12	8	118580766	Silent	SNP	A	C3N-00294_TP	469887	118580766	26557870	641	14143	315	2									
SAMD12	0	.	GRCh38	chr8	118580770	118580770	+	Missense_Mutation	SNP	A	A	T																															gagttcctttctggtcaggcAccttctggaaatttttattt																								novel		C3N-00294_TP	C3N-00294_NB	A	A																c.137T>A	p.Val46Glu	p.V46E	ENST00000314727	2/4	145	79	66	155	155	0	strelka-varscan-mutect	SAMD12,missense_variant,p.Val46Glu,ENST00000409003,NM_001101676.1;SAMD12,missense_variant,p.Val46Glu,ENST00000314727,NM_207506.2;SAMD12,missense_variant,p.Val43Glu,ENST00000453675,;SAMD12,missense_variant,p.Val38Glu,ENST00000524796,;SAMD12,missense_variant,p.Val46Glu,ENST00000526328,;SAMD12,missense_variant,p.Val61Glu,ENST00000526765,;SAMD12,missense_variant,p.Val46Glu,ENST00000445741,;	T	ENST00000314727	Transcript	missense_variant	274/2172	137/606	46/201	V/E	gTg/gAg		1		-1	SAMD12	HGNC	HGNC:31750	protein_coding	YES	CCDS6325.1	ENSP00000314173	Q8N8I0		UPI000013F8F1	NM_207506.2	tolerated(0.17)		2/4		hmmpanther:PTHR20843:SF2,hmmpanther:PTHR20843																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	118580770	118580770	A	T	1	0	0	0	0	1	0	0	0	14076	159	6	4		4	SAMD12	8	118580770	Missense_Mutation	SNP	A	C3N-00294_TP	4	118580770	26557866	642	14144	315	2									
COL14A1	0	.	GRCh38	chr8	120226705	120226705	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgacctggcatcccctctCagctgatgaagggctacaca	9	8	11	13	0	1	3	1	3	1	0	3	3	2	3	3	3	2	3	3	3	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1943C>G	p.Ser648Ter	p.S648*	ENST00000297848	16/48	178	148	30	181	181	0	strelka-varscan-mutect	COL14A1,stop_gained,p.Ser648Ter,ENST00000297848,NM_021110.2;COL14A1,stop_gained,p.Ser648Ter,ENST00000309791,;COL14A1,stop_gained,p.Ser461Ter,ENST00000434620,;COL14A1,3_prime_UTR_variant,,ENST00000537875,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;COL14A1,3_prime_UTR_variant,,ENST00000498051,;	G	ENST00000297848	Transcript	stop_gained	2213/6466	1943/5391	648/1796	S/*	tCa/tGa		1		1	COL14A1	HGNC	HGNC:2191	protein_coding	YES	CCDS34938.1	ENSP00000297848	Q05707		UPI000046D377	NM_021110.2			16/48		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	HIGH	1	SNV	5			1										PASS		.	.												G	4	3	46	120226705	120226705	C	G	1	0	0	0	0	0	1	0	0	3459	838	29	4		4	COL14A1	8	120226705	Nonsense_Mutation	SNP	C	C3N-00294_TP	1645935	120226705	24911931	643	14145											
MTSS1	0	.	GRCh38	chr8	124553357	124553357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccccgctcttctggcccatCtggaggggctggcaacaccc	5	7	11	18	1	3	0	0	0	3	0	3	1	3	1	4	5	1	3	4	5	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1915G>A	p.Asp639Asn	p.D639N	ENST00000325064	15/15	86	41	45	73	73	0	strelka-varscan-mutect	MTSS1,missense_variant,p.Asp635Asn,ENST00000518547,NM_014751.5;MTSS1,missense_variant,p.Asp610Asn,ENST00000378017,NM_001282974.1;MTSS1,missense_variant,p.Asp639Asn,ENST00000325064,NM_001282971.1;MTSS1,missense_variant,p.Asp525Asn,ENST00000524090,;MTSS1,missense_variant,p.Asp423Asn,ENST00000519168,;MTSS1,missense_variant,p.Asp353Asn,ENST00000431961,;NDUFB9,intron_variant,,ENST00000522532,;MTSS1,downstream_gene_variant,,ENST00000523179,;MTSS1,downstream_gene_variant,,ENST00000522118,;NDUFB9,downstream_gene_variant,,ENST00000276689,NM_005005.2;NDUFB9,downstream_gene_variant,,ENST00000517367,NM_001311168.1,NM_001278645.1,NM_001278646.1;MTSS1,non_coding_transcript_exon_variant,,ENST00000523587,;MTSS1,downstream_gene_variant,,ENST00000520094,;MTSS1,downstream_gene_variant,,ENST00000522722,;NDUFB9,downstream_gene_variant,,ENST00000517830,;MTSS1,non_coding_transcript_exon_variant,,ENST00000520771,;NDUFB9,downstream_gene_variant,,ENST00000518657,;NDUFB9,downstream_gene_variant,,ENST00000524241,;	T	ENST00000325064	Transcript	missense_variant	2233/2777	1915/2280	639/759	D/N	Gat/Aat		1		-1	MTSS1	HGNC	HGNC:20443	protein_coding	YES	CCDS64969.1	ENSP00000322804	O43312		UPI0001E8F264	NM_001282971.1	tolerated(0.52)		15/15		hmmpanther:PTHR15708,hmmpanther:PTHR15708:SF10																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	46	124553357	124553357	C	T	1	0	0	0	0	1	0	0	0	9959	913	32	3		3	MTSS1	8	124553357	Missense_Mutation	SNP	C	C3N-00294_TP	4326652	124553357	20585279	644	14146											
FAM84B	0	.	GRCh38	chr8	126557317	126557317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcggggcccgtcgtcccggtCcacgccagtcgggtcggccg	2	5	17	17	8	0	0	0	0	0	0	5	0	2	0	5	5	0	0	5	5	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.73G>A	p.Asp25Asn	p.D25N	ENST00000304916	2/2	320	242	78	276	276	0	strelka-varscan-mutect	FAM84B,missense_variant,p.Asp25Asn,ENST00000304916,NM_174911.4;RP11-103H7.5,non_coding_transcript_exon_variant,,ENST00000524320,;RP11-89K10.1,upstream_gene_variant,,ENST00000519880,;RP11-89K10.1,upstream_gene_variant,,ENST00000517773,;RP11-89K10.1,upstream_gene_variant,,ENST00000520512,;FAM84B,upstream_gene_variant,,ENST00000517458,;	T	ENST00000304916	Transcript	missense_variant	529/5404	73/933	25/310	D/N	Gac/Aac		1		-1	FAM84B	HGNC	HGNC:24166	protein_coding	YES	CCDS6358.1	ENSP00000302578	Q96KN1		UPI00000710F2	NM_174911.4	deleterious(0)		2/2																			MODERATE	1	SNV	1			1										PASS		rs1361012003	.												T	3	4	46	126557317	126557317	C	T	1	0	0	0	0	1	0	0	0	5500	855	30	3		3	FAM84B	8	126557317	Missense_Mutation	SNP	C	C3N-00294_TP	2003960	126557317	18581319	645	14147											
FAM135B	0	.	GRCh38	chr8	138152436	138152436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaatcagatatgatggatGaagatctcttgatgaccccg	12	11	10	8	1	2	7	1	5	1	2	3	8	2	8	2	1	0	0	2	1	3	2			C3N-00294_TP	C3N-00294_NB	G	G																c.2039C>T	p.Ser680Leu	p.S680L	ENST00000395297	13/20	250	201	49	257	257	0	strelka-varscan-mutect	FAM135B,missense_variant,p.Ser680Leu,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Ser680Leu,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000467365,;FAM135B,upstream_gene_variant,,ENST00000395295,;	A	ENST00000395297	Transcript	missense_variant	2210/6962	2039/4221	680/1406	S/L	tCa/tTa	COSM3319002,COSM3319003	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	deleterious(0)		13/20		Low_complexity_(Seg):seg,hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	46	138152436	138152436	G	A	1	0	0	0	0	1	0	0	0	5299	1294	45	3		3	FAM135B	8	138152436	Missense_Mutation	SNP	G	C3N-00294_TP	11595119	138152436	6986200	646	14148											
ARC	0	.	GRCh38	chr8	142613369	142613369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtcccgcttgcgccacagGaactggtccagcggctcgcc	6	6	13	16	4	0	0	0	0	0	0	3	1	2	1	4	4	3	2	4	4	1	1	rs778023538		C3N-00294_TP	C3N-00294_NB	G	G																c.903C>A	p.Phe301Leu	p.F301L	ENST00000356613	1/3	96	84	12	127	127	0	strelka-varscan-mutect	ARC,missense_variant,p.Phe301Leu,ENST00000356613,NM_015193.4;ARC,upstream_gene_variant,,ENST00000581404,;	T	ENST00000356613	Transcript	missense_variant	1104/2948	903/1191	301/396	F/L	ttC/ttA	rs778023538	1		-1	ARC	HGNC	HGNC:648	protein_coding	YES	CCDS34950.1	ENSP00000349022	Q7LC44		UPI0000163B0F	NM_015193.4	deleterious(0.01)		1/3		hmmpanther:PTHR15962																	MODERATE	1	SNV	1			1										PASS		rs778023538	.												T	3	4	46	142613369	142613369	G	T	1	0	0	0	0	1	0	0	0	963	1165	41	2		2	ARC	8	142613369	Missense_Mutation	SNP	G	C3N-00294_TP	4460933	142613369	2525267	647	14149											
CYP11B1	0	.	GRCh38	chr8	142875127	142875127	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaggcggggttgcgacccaGagagtagaggaacacgcgca	12	3	16	10	4	0	2	0	0	0	2	0	5	0	3	1	4	2	3	1	4	3	2	rs200770247		C3N-00294_TP	C3N-00294_NB	G	G																c.1228C>T	p.=	p.L410L	ENST00000292427	8/9	454	360	94	422	422	0	strelka-varscan-mutect	CYP11B1,synonymous_variant,p.=,ENST00000292427,NM_000497.3;CYP11B1,synonymous_variant,p.=,ENST00000519285,;CYP11B1,synonymous_variant,p.=,ENST00000377675,;CYP11B1,intron_variant,,ENST00000517471,NM_001026213.1;GML,intron_variant,,ENST00000522728,;CYP11B1,intron_variant,,ENST00000314111,;	A	ENST00000292427	Transcript	synonymous_variant	1261/2664	1228/1512	410/503	L	Ctg/Ttg	rs200770247	1		-1	CYP11B1	HGNC	HGNC:2591	protein_coding	YES	CCDS6392.1	ENSP00000292427	P15538		UPI000013E0BA	NM_000497.3			8/9		hmmpanther:PTHR24279,hmmpanther:PTHR24279:SF46,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	LOW	1	SNV	1			1										PASS		rs200770247	.												A	2	1	46	142875127	142875127	G	A	1	0	0	0	0	0	0	0	1	3948	933	33	3		3	CYP11B1	8	142875127	Silent	SNP	G	C3N-00294_TP	261758	142875127	2263509	648	14150											
TIGD5	0	.	GRCh38	chr8	143598468	143598468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagccagcgcttctacggcGaggccgggcccccagccccg	5	3	13	20	5	1	0	0	0	1	0	1	1	1	0	7	3	4	1	7	3	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.565G>A	p.Glu189Lys	p.E189K	ENST00000504548	1/1	58	45	13	53	53	0	strelka-varscan-mutect	TIGD5,missense_variant,p.Glu189Lys,ENST00000504548,NM_032862.4;EEF1D,intron_variant,,ENST00000533749,;EEF1D,upstream_gene_variant,,ENST00000423316,NM_001130053.2;EEF1D,upstream_gene_variant,,ENST00000618139,;EEF1D,upstream_gene_variant,,ENST00000442189,NM_032378.4;EEF1D,upstream_gene_variant,,ENST00000317198,NM_001130057.2;EEF1D,upstream_gene_variant,,ENST00000419152,NM_001130055.2;EEF1D,upstream_gene_variant,,ENST00000529272,;EEF1D,upstream_gene_variant,,ENST00000395119,NM_001289950.1,NM_001960.4;EEF1D,upstream_gene_variant,,ENST00000524624,;EEF1D,upstream_gene_variant,,ENST00000534380,;EEF1D,upstream_gene_variant,,ENST00000526710,;EEF1D,upstream_gene_variant,,ENST00000526838,NM_001195203.1;EEF1D,upstream_gene_variant,,ENST00000531670,;EEF1D,upstream_gene_variant,,ENST00000528610,NM_001130056.2;EEF1D,upstream_gene_variant,,ENST00000530191,;EEF1D,upstream_gene_variant,,ENST00000533204,;EEF1D,upstream_gene_variant,,ENST00000531621,;EEF1D,upstream_gene_variant,,ENST00000531281,;EEF1D,upstream_gene_variant,,ENST00000532543,;EEF1D,upstream_gene_variant,,ENST00000531218,;EEF1D,upstream_gene_variant,,ENST00000526340,;EEF1D,upstream_gene_variant,,ENST00000532596,;EEF1D,upstream_gene_variant,,ENST00000533494,;EEF1D,upstream_gene_variant,,ENST00000534377,;EEF1D,upstream_gene_variant,,ENST00000530545,;EEF1D,upstream_gene_variant,,ENST00000531931,;EEF1D,upstream_gene_variant,,ENST00000529832,;EEF1D,upstream_gene_variant,,ENST00000530306,;EEF1D,upstream_gene_variant,,ENST00000525261,;EEF1D,upstream_gene_variant,,ENST00000528303,;EEF1D,upstream_gene_variant,,ENST00000534804,;EEF1D,upstream_gene_variant,,ENST00000534475,;EEF1D,upstream_gene_variant,,ENST00000531953,;EEF1D,upstream_gene_variant,,ENST00000529516,;EEF1D,upstream_gene_variant,,ENST00000532400,;EEF1D,upstream_gene_variant,,ENST00000526133,;EEF1D,upstream_gene_variant,,ENST00000524900,;EEF1D,upstream_gene_variant,,ENST00000531770,;EEF1D,upstream_gene_variant,,ENST00000526786,;EEF1D,upstream_gene_variant,,ENST00000524397,;EEF1D,upstream_gene_variant,,ENST00000525695,;EEF1D,upstream_gene_variant,,ENST00000529007,;EEF1D,upstream_gene_variant,,ENST00000533833,;EEF1D,upstream_gene_variant,,ENST00000534232,;EEF1D,upstream_gene_variant,,ENST00000530848,;	A	ENST00000504548	Transcript	missense_variant	634/5390	565/1929	189/642	E/K	Gag/Aag		1		1	TIGD5	HGNC	HGNC:18336	protein_coding	YES	CCDS6406.2	ENSP00000421489	Q53EQ6		UPI0001BAE24C	NM_032862.4	deleterious(0)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF283																	MODERATE		SNV				1										PASS		rs1211583093	.												A	3	1	46	143598468	143598468	G	A	1	0	0	0	0	1	0	0	0	16337	1059	37	1		1	TIGD5	8	143598468	Missense_Mutation	SNP	G	C3N-00294_TP	723341	143598468	1540168	649	14151											
PLEC	0	.	GRCh38	chr8	143917655	143917655	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcagccggtggctctcctCagggtcgatgatgccgcccg	4	7	16	14	4	2	1	1	1	1	0	4	2	2	1	4	4	2	2	4	4	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.12577G>C	p.Glu4193Gln	p.E4193Q	ENST00000322810	32/32	242	184	58	251	251	0	strelka-varscan-mutect	PLEC,missense_variant,p.Glu4193Gln,ENST00000322810,NM_201380.3;PLEC,missense_variant,p.Glu4056Gln,ENST00000345136,NM_201384.2;PLEC,missense_variant,p.Glu4083Gln,ENST00000436759,NM_000445.4;PLEC,missense_variant,p.Glu4034Gln,ENST00000354958,NM_201379.2;PLEC,missense_variant,p.Glu4056Gln,ENST00000354589,NM_201382.3;PLEC,missense_variant,p.Glu4060Gln,ENST00000357649,NM_201383.2;PLEC,missense_variant,p.Glu4042Gln,ENST00000356346,NM_201378.3;PLEC,missense_variant,p.Glu4024Gln,ENST00000398774,NM_201381.2;PLEC,missense_variant,p.Glu4079Gln,ENST00000527096,;PLEC,downstream_gene_variant,,ENST00000527303,;	G	ENST00000322810	Transcript	missense_variant	12747/15249	12577/14055	4193/4684	E/Q	Gag/Cag		1		-1	PLEC	HGNC	HGNC:9069	protein_coding	YES	CCDS43772.1	ENSP00000323856	Q15149		UPI0000233FCD	NM_201380.3	tolerated(0.12)		32/32		Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,SMART_domains:SM00250,Superfamily_domains:SSF75399																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	143917655	143917655	C	G	1	0	0	0	0	1	0	0	0	12145	835	29	4		4	PLEC	8	143917655	Missense_Mutation	SNP	C	C3N-00294_TP	319187	143917655	1220981	650	14152											
PLEC	0	.	GRCh38	chr8	143918451	143918451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggcctcctcagtagggatCagctccttcttcatggcctg	6	11	11	13	0	4	0	3	0	1	0	6	1	6	1	4	3	1	2	4	3	1	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.11781G>A	p.=	p.L3927L	ENST00000322810	32/32	173	140	33	183	183	0	strelka-varscan-mutect	PLEC,synonymous_variant,p.=,ENST00000322810,NM_201380.3;PLEC,synonymous_variant,p.=,ENST00000345136,NM_201384.2;PLEC,synonymous_variant,p.=,ENST00000436759,NM_000445.4;PLEC,synonymous_variant,p.=,ENST00000354958,NM_201379.2;PLEC,synonymous_variant,p.=,ENST00000354589,NM_201382.3;PLEC,synonymous_variant,p.=,ENST00000357649,NM_201383.2;PLEC,synonymous_variant,p.=,ENST00000356346,NM_201378.3;PLEC,synonymous_variant,p.=,ENST00000398774,NM_201381.2;PLEC,synonymous_variant,p.=,ENST00000527096,;PLEC,downstream_gene_variant,,ENST00000527303,;	T	ENST00000322810	Transcript	synonymous_variant	11951/15249	11781/14055	3927/4684	L	ctG/ctA		1		-1	PLEC	HGNC	HGNC:9069	protein_coding	YES	CCDS43772.1	ENSP00000323856	Q15149		UPI0000233FCD	NM_201380.3			32/32		Gene3D:3.90.1290.10,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,SMART_domains:SM00250,Superfamily_domains:SSF75399																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	143918451	143918451	C	T	1	0	0	0	0	0	0	0	1	12145	813	29	3		3	PLEC	8	143918451	Silent	SNP	C	C3N-00294_TP	796	143918451	1220185	651	14153											
PLEC	0	.	GRCh38	chr8	143927332	143927332	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcgatctcctccagcaGggcctgggtgatggtgtggt	4	10	16	11	2	1	1	0	1	1	0	4	2	2	1	3	4	1	2	3	4	0	0	rs782372916		C3N-00294_TP	C3N-00294_NB	G	G																c.4171C>T	p.=	p.L1391L	ENST00000322810	28/32	603	490	113	641	641	0	strelka-varscan-mutect	PLEC,synonymous_variant,p.=,ENST00000322810,NM_201380.3;PLEC,synonymous_variant,p.=,ENST00000345136,NM_201384.2;PLEC,synonymous_variant,p.=,ENST00000436759,NM_000445.4;PLEC,synonymous_variant,p.=,ENST00000354958,NM_201379.2;PLEC,synonymous_variant,p.=,ENST00000354589,NM_201382.3;PLEC,synonymous_variant,p.=,ENST00000357649,NM_201383.2;PLEC,synonymous_variant,p.=,ENST00000356346,NM_201378.3;PLEC,synonymous_variant,p.=,ENST00000398774,NM_201381.2;PLEC,synonymous_variant,p.=,ENST00000527096,;PLEC,upstream_gene_variant,,ENST00000527303,;	A	ENST00000322810	Transcript	synonymous_variant	4341/15249	4171/14055	1391/4684	L	Ctg/Ttg	rs782372916	1		-1	PLEC	HGNC	HGNC:9069	protein_coding	YES	CCDS43772.1	ENSP00000323856	Q15149		UPI0000233FCD	NM_201380.3			28/32		Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,Low_complexity_(Seg):seg,SMART_domains:SM00150,Superfamily_domains:SSF46966																	LOW	1	SNV	1			1										PASS		rs782372916	.												A	2	1	46	143927332	143927332	G	A	1	0	0	0	0	0	0	0	1	12145	1014	35	3		3	PLEC	8	143927332	Silent	SNP	G	C3N-00294_TP	8881	143927332	1211304	652	14154											
DOCK8	0	.	GRCh38	chr9	406929	406929	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctccttacgtttctgtaGaactcaagctcctgctccag	7	13	8	13	1	2	1	1	0	1	1	5	1	5	1	3	1	4	5	3	1	4	3			C3N-00294_TP	C3N-00294_NB	G	G																c.3391-1G>A		p.X1131_splice	ENST00000432829		354	292	62	468	467	1	strelka-varscan-mutect	DOCK8,splice_acceptor_variant,,ENST00000432829,NM_203447.3;DOCK8,splice_acceptor_variant,,ENST00000453981,NM_001193536.1;DOCK8,splice_acceptor_variant,,ENST00000469391,NM_001190458.1;DOCK8,splice_acceptor_variant,,ENST00000382329,;DOCK8,downstream_gene_variant,,ENST00000382331,;DOCK8,splice_acceptor_variant,,ENST00000495184,;	A	ENST00000432829	Transcript	splice_acceptor_variant	-/7452	3391/6300	1131/2099			COSM3926830,COSM3926831	1		1	DOCK8	HGNC	HGNC:19191	protein_coding	YES	CCDS6440.2	ENSP00000394888	Q8NF50		UPI0000E0B9E5	NM_203447.3				27/47												1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												A	5	1	46	406929	406929	G	A	1	0	0	0	0	0	0	1	0	4508	956	33	3		3	DOCK8	9	406929	Splice_Site	SNP	G	C3N-00294_TP		406929	137987788	653	14155											
INSL4	0	.	GRCh38	chr9	5233724	5233724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaattcattcctaatttGtcaccagagctgaagaaacc	14	11	6	10	0	3	4	3	1	0	3	4	4	4	4	3	0	2	1	3	0	4	4			C3N-00294_TP	C3N-00294_NB	G	G																c.267G>T	p.Leu89Phe	p.L89F	ENST00000239316	2/2	283	177	106	313	313	0	strelka-varscan-mutect	INSL4,missense_variant,p.Leu89Phe,ENST00000239316,NM_002195.1;	T	ENST00000239316	Transcript	missense_variant	372/1952	267/420	89/139	L/F	ttG/ttT	COSM377998	1		1	INSL4	HGNC	HGNC:6087	protein_coding	YES	CCDS6459.1	ENSP00000239316	Q14641		UPI0000032F5A	NM_002195.1	deleterious(0.02)		2/2		Prints_domain:PR02004,hmmpanther:PTHR12004,hmmpanther:PTHR12004:SF3											1						MODERATE	1	SNV	1		1	1										PASS		rs1206550366	.												T	3	4	46	5233724	5233724	G	T	1	0	0	0	0	1	0	0	0	7670	1368	48	2		2	INSL4	9	5233724	Missense_Mutation	SNP	G	C3N-00294_TP	4826795	5233724	133160993	654	14156											
FREM1	0	.	GRCh38	chr9	14784533	14784533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgacatagagcagttcctCaggcttgtctgttccgtcca	8	12	10	11	1	2	2	1	1	1	1	5	3	5	2	3	1	1	4	3	1	1	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.4279G>C	p.Glu1427Gln	p.E1427Q	ENST00000422223	25/38	150	117	33	153	153	0	strelka-varscan-mutect	FREM1,missense_variant,p.Glu1427Gln,ENST00000422223,NM_144966.5;FREM1,missense_variant,p.Glu1427Gln,ENST00000380880,;FREM1,upstream_gene_variant,,ENST00000380894,NM_001177704.1;FREM1,non_coding_transcript_exon_variant,,ENST00000466679,;FREM1,non_coding_transcript_exon_variant,,ENST00000485068,;FREM1,non_coding_transcript_exon_variant,,ENST00000497634,;FREM1,intron_variant,,ENST00000380875,;	G	ENST00000422223	Transcript	missense_variant	5095/10086	4279/6540	1427/2179	E/Q	Gag/Cag		1		-1	FREM1	HGNC	HGNC:23399	protein_coding	YES	CCDS47952.1	ENSP00000412940	Q5H8C1		UPI000057A218	NM_144966.5	deleterious(0)		25/38		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF24																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	46	14784533	14784533	C	G	1	0	0	0	0	1	0	0	0	5911	835	29	4		4	FREM1	9	14784533	Missense_Mutation	SNP	C	C3N-00294_TP	9550809	14784533	123610184	655	14157											
CCDC171	0	.	GRCh38	chr9	15846728	15846728	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgaggcaaagatggagctGagaagaaaagatcaatctct	16	7	11	7	1	2	4	1	1	1	4	4	7	3	5	1	2	1	2	1	2	5	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3294G>A	p.=	p.L1098L	ENST00000380701	22/26	110	89	21	87	87	0	strelka-varscan-mutect	CCDC171,synonymous_variant,p.=,ENST00000380701,NM_173550.2;CCDC171,synonymous_variant,p.=,ENST00000449575,;CCDC171,synonymous_variant,p.=,ENST00000432954,;CCDC171,non_coding_transcript_exon_variant,,ENST00000470191,;CCDC171,upstream_gene_variant,,ENST00000498725,;	A	ENST00000380701	Transcript	synonymous_variant	3622/6512	3294/3981	1098/1326	L	ctG/ctA		1		1	CCDC171	HGNC	HGNC:29828	protein_coding	YES	CCDS6481.1	ENSP00000370077	Q6TFL3		UPI000021C44B	NM_173550.2			22/26		Coiled-coils_(Ncoils):Coil																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	15846728	15846728	G	A	1	0	0	0	0	0	0	0	1	2488	1277	45	3		3	CCDC171	9	15846728	Silent	SNP	G	C3N-00294_TP	1062195	15846728	122547989	656	14158											
IFNA16	0	.	GRCh38	chr9	21216975	21216975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcagttgctggaaaagttCaatgtagaatttgtctagga	13	14	10	4	0	3	1	2	0	1	1	3	3	3	3	0	2	1	4	0	2	6	6			C3N-00294_TP	C3N-00294_NB	C	C																c.331G>A	p.Glu111Lys	p.E111K	ENST00000380216	1/1	223	175	48	194	194	0	strelka-varscan-mutect	IFNA16,missense_variant,p.Glu111Lys,ENST00000380216,NM_002173.2;	T	ENST00000380216	Transcript	missense_variant	337/939	331/570	111/189	E/K	Gaa/Aaa	COSM3656557	1		-1	IFNA16	HGNC	HGNC:5421	protein_coding	YES	CCDS34996.1	ENSP00000369564	P05015		UPI0000047763	NM_002173.2	deleterious(0.01)		1/1		hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF39,Gene3D:1.20.1250.10,Pfam_domain:PF00143,SMART_domains:SM00076,Superfamily_domains:SSF47266											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	46	21216975	21216975	C	T	1	0	0	0	0	1	0	0	0	7435	835	29	3		3	IFNA16	9	21216975	Missense_Mutation	SNP	C	C3N-00294_TP	5370247	21216975	117177742	657	14159											
PLAA	0	.	GRCh38	chr9	26907937	26907937	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtatcttctcaagaagtatCaagtcatcctcagttaactt	13	14	5	9	0	5	1	4	0	2	1	7	1	6	1	1	0	1	3	1	0	6	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1719G>C	p.Leu573Phe	p.L573F	ENST00000397292	13/14	76	63	13	108	108	0	strelka-mutect	PLAA,missense_variant,p.Leu573Phe,ENST00000397292,NM_001031689.2;PLAA,missense_variant,p.Leu573Phe,ENST00000520884,;PLAA,missense_variant,p.Leu100Phe,ENST00000487173,;PLAA,intron_variant,,ENST00000517642,;	G	ENST00000397292	Transcript	missense_variant	2137/4234	1719/2388	573/795	L/F	ttG/ttC		1		-1	PLAA	HGNC	HGNC:9043	protein_coding	YES	CCDS35000.1	ENSP00000380460	Q9Y263		UPI00000372D6	NM_001031689.2	deleterious(0.04)		13/14		Pfam_domain:PF08324,PROSITE_profiles:PS51396,hmmpanther:PTHR19849,hmmpanther:PTHR19849:SF0,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	26907937	26907937	C	G	1	0	0	0	0	1	0	0	0	12107	825	29	4		4	PLAA	9	26907937	Missense_Mutation	SNP	C	C3N-00294_TP	5690962	26907937	111486780	658	14160											
NFX1	0	.	GRCh38	chr9	33294853	33294853	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagagcatagtccttctgaGagtgagaaggaagttgtggg	12	9	16	4	0	1	3	0	2	1	3	2	7	2	4	1	2	1	2	1	2	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.459G>A	p.=	p.E153E	ENST00000379540	2/24	275	230	45	280	280	0	strelka-varscan-mutect	NFX1,synonymous_variant,p.=,ENST00000379540,NM_001318758.1,NM_002504.4;NFX1,synonymous_variant,p.=,ENST00000379521,NM_147133.2;NFX1,synonymous_variant,p.=,ENST00000318524,NM_147134.2;	A	ENST00000379540	Transcript	synonymous_variant	521/4604	459/3363	153/1120	E	gaG/gaA		1		1	NFX1	HGNC	HGNC:7803	protein_coding	YES	CCDS6538.1	ENSP00000368856	Q12986		UPI0000072140	NM_001318758.1,NM_002504.4			2/24		hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF3																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	33294853	33294853	G	A	1	0	0	0	0	0	0	0	1	10423	933	33	3		3	NFX1	9	33294853	Silent	SNP	G	C3N-00294_TP	6386916	33294853	105099864	659	14161											
AQP7	0	.	GRCh38	chr9	33385201	33385201	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggggctcccgtgggatggtgGagccaatgaagaccaggtag	9	6	18	8	1	0	2	0	1	0	1	1	4	1	4	3	6	1	2	3	6	3	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.833C>G	p.Ser278Cys	p.S278C	ENST00000297988	8/8	251	193	58	245	245	0	strelka-varscan-mutect	AQP7,missense_variant,p.Ser277Cys,ENST00000379507,;AQP7,missense_variant,p.Ser278Cys,ENST00000297988,NM_001170.1;AQP7,synonymous_variant,p.=,ENST00000377425,;AQP7,downstream_gene_variant,,ENST00000624075,;AQP7,downstream_gene_variant,,ENST00000379506,;AQP7,downstream_gene_variant,,ENST00000447660,;AQP7,downstream_gene_variant,,ENST00000439678,;AQP7,downstream_gene_variant,,ENST00000625109,;AQP7,downstream_gene_variant,,ENST00000379503,;AQP7,downstream_gene_variant,,ENST00000623743,;AQP7,downstream_gene_variant,,ENST00000623097,;AQP7,3_prime_UTR_variant,,ENST00000537089,;AQP7,downstream_gene_variant,,ENST00000624890,;AQP7,downstream_gene_variant,,ENST00000624005,;AQP7,downstream_gene_variant,,ENST00000624420,;AQP7,downstream_gene_variant,,ENST00000624095,;AQP7,downstream_gene_variant,,ENST00000624432,;	C	ENST00000297988	Transcript	missense_variant	1005/1256	833/1029	278/342	S/C	tCc/tGc		1		-1	AQP7	HGNC	HGNC:640	protein_coding	YES	CCDS6541.1	ENSP00000297988	O14520		UPI0000125D23	NM_001170.1	tolerated(0.2)		8/8		hmmpanther:PTHR19139:SF16,hmmpanther:PTHR19139																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	33385201	33385201	G	C	1	0	0	0	0	1	0	0	0	954	1174	41	4		4	AQP7	9	33385201	Missense_Mutation	SNP	G	C3N-00294_TP	90348	33385201	105009516	660	14162											
UBAP1	0	.	GRCh38	chr9	34251508	34251508	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacaatgctttggaagacctCatggctcgggcaggagccag	10	7	14	10	1	1	1	1	0	0	1	2	4	1	3	2	4	2	3	2	4	2	1	rs371234489		C3N-00294_TP	C3N-00294_NB	C	C																c.1677C>G	p.=	p.L559L	ENST00000625521	6/6	78	66	12	81	81	0	strelka-varscan-mutect	UBAP1,synonymous_variant,p.=,ENST00000297661,NM_001171203.2,NM_016525.4,NM_001171204.2;UBAP1,synonymous_variant,p.=,ENST00000359544,;UBAP1,synonymous_variant,p.=,ENST00000379186,;UBAP1,synonymous_variant,p.=,ENST00000625521,NM_001171201.1;UBAP1,synonymous_variant,p.=,ENST00000626262,NM_001171202.1;KIF24,downstream_gene_variant,,ENST00000402558,NM_194313.2;KIF24,downstream_gene_variant,,ENST00000379174,;	G	ENST00000625521	Transcript	synonymous_variant	1687/2029	1677/1701	559/566	L	ctC/ctG	rs371234489	1		1	UBAP1	HGNC	HGNC:12461	protein_coding	YES	CCDS55303.1	ENSP00000486574	Q9NZ09		UPI0001C2BF9D	NM_001171201.1			6/6		PROSITE_profiles:PS50030,hmmpanther:PTHR15960,hmmpanther:PTHR15960:SF2,Superfamily_domains:SSF46934																	LOW	1	SNV	2			1										PASS		rs371234489	.												G	2	3	46	34251508	34251508	C	G	1	0	0	0	0	0	0	0	1	17357	813	29	4		4	UBAP1	9	34251508	Silent	SNP	C	C3N-00294_TP	866307	34251508	104143209	661	14163											
ARID3C	0	.	GRCh38	chr9	34627721	34627721	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgaattgttcctcgtaggtCcactcgtggggatggagtcc	6	13	13	9	2	0	1	0	1	0	0	5	3	3	3	3	4	0	2	3	4	2	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.294G>A	p.Trp98Ter	p.W98*	ENST00000378909	1/7	83	78	5	77	77	0	strelka-varscan-mutect	ARID3C,stop_gained,p.Trp98Ter,ENST00000378909,NM_001017363.1;	T	ENST00000378909	Transcript	stop_gained	387/1411	294/1239	98/412	W/*	tgG/tgA		1		-1	ARID3C	HGNC	HGNC:21209	protein_coding	YES	CCDS35006.1	ENSP00000368189	A6NKF2		UPI0000509F06	NM_001017363.1			1/7		Gene3D:1.10.150.60,hmmpanther:PTHR15348,hmmpanther:PTHR15348:SF2,Superfamily_domains:SSF46774																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	46	34627721	34627721	C	T	1	0	0	0	0	0	1	0	0	1054	856	30	3		3	ARID3C	9	34627721	Nonsense_Mutation	SNP	C	C3N-00294_TP	376213	34627721	103766996	662	14164											
NPR2	0	.	GRCh38	chr9	35801717	35801717	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaactgcagtttggcaactCagagcgttatcacaaaggtg	13	9	11	8	1	2	2	2	0	0	2	2	2	2	2	0	2	4	4	0	2	4	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1511C>G	p.Ser504Ter	p.S504*	ENST00000342694	8/22	685	546	139	774	774	0	strelka-varscan-mutect	NPR2,stop_gained,p.Ser504Ter,ENST00000342694,NM_003995.3;NPR2,upstream_gene_variant,,ENST00000421267,;NPR2,upstream_gene_variant,,ENST00000447210,;NPR2,non_coding_transcript_exon_variant,,ENST00000464810,;NPR2,upstream_gene_variant,,ENST00000448821,;	G	ENST00000342694	Transcript	stop_gained	1766/3686	1511/3144	504/1047	S/*	tCa/tGa		1		1	NPR2	HGNC	HGNC:7944	protein_coding	YES	CCDS6590.1	ENSP00000341083	P20594		UPI0000125B42	NM_003995.3			8/22		hmmpanther:PTHR11920:SF305,hmmpanther:PTHR11920																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	46	35801717	35801717	C	G	1	0	0	0	0	0	1	0	0	10651	838	29	4		4	NPR2	9	35801717	Nonsense_Mutation	SNP	C	C3N-00294_TP	1173996	35801717	102593000	663	14165											
NPR2	0	.	GRCh38	chr9	35805597	35805597	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggatagtcgttttgtgctCaaaatcacagactatggcct	10	13	10	8	1	2	1	2	0	0	1	3	2	2	2	1	2	1	2	1	2	4	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1974C>G	p.=	p.L658L	ENST00000342694	13/22	378	308	70	394	394	0	strelka-varscan-mutect	NPR2,synonymous_variant,p.=,ENST00000342694,NM_003995.3;NPR2,synonymous_variant,p.=,ENST00000421267,;SPAG8,downstream_gene_variant,,ENST00000340291,NM_172312.1;SPAG8,downstream_gene_variant,,ENST00000484764,;SPAG8,downstream_gene_variant,,ENST00000396638,NM_001039592.1;SPAG8,downstream_gene_variant,,ENST00000497810,;NPR2,upstream_gene_variant,,ENST00000447210,;SPAG8,downstream_gene_variant,,ENST00000479751,;SPAG8,downstream_gene_variant,,ENST00000463889,;SPAG8,downstream_gene_variant,,ENST00000489063,;NPR2,non_coding_transcript_exon_variant,,ENST00000464810,;SPAG8,downstream_gene_variant,,ENST00000475644,;SPAG8,downstream_gene_variant,,ENST00000472605,;SPAG8,downstream_gene_variant,,ENST00000495667,;SPAG8,downstream_gene_variant,,ENST00000471631,;NPR2,upstream_gene_variant,,ENST00000448821,;SPAG8,downstream_gene_variant,,ENST00000460836,;NPR2,upstream_gene_variant,,ENST00000469249,;	G	ENST00000342694	Transcript	synonymous_variant	2229/3686	1974/3144	658/1047	L	ctC/ctG		1		1	NPR2	HGNC	HGNC:7944	protein_coding	YES	CCDS6590.1	ENSP00000341083	P20594		UPI0000125B42	NM_003995.3			13/22		PROSITE_profiles:PS50011,hmmpanther:PTHR11920:SF305,hmmpanther:PTHR11920,Pfam_domain:PF07714,Gene3D:1.10.510.10,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	46	35805597	35805597	C	G	1	0	0	0	0	0	0	0	1	10651	813	29	4		4	NPR2	9	35805597	Silent	SNP	C	C3N-00294_TP	3880	35805597	102589120	664	14166											
CNTNAP3	0	.	GRCh38	chr9	39133107	39133107	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccgcgtcggggccaccGtgctgcaccaccgtccacgc	5	5	12	19	6	1	0	1	0	0	0	3	0	2	0	6	2	2	2	6	2	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1905C>T	p.=	p.H635H	ENST00000297668	13/24	272	255	17	263	263	0	varscan-mutect	CNTNAP3,synonymous_variant,p.=,ENST00000297668,NM_033655.3;CNTNAP3,synonymous_variant,p.=,ENST00000377656,;CNTNAP3,synonymous_variant,p.=,ENST00000358144,;CNTNAP3,synonymous_variant,p.=,ENST00000377659,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000448573,;CNTNAP3,synonymous_variant,p.=,ENST00000443583,;	A	ENST00000297668	Transcript	synonymous_variant	1979/5064	1905/3867	635/1288	H	caC/caT		1		-1	CNTNAP3	HGNC	HGNC:13834	protein_coding	YES	CCDS6616.1	ENSP00000297668	Q9BZ76		UPI000013E43B	NM_033655.3			13/24		Gene3D:3.90.215.10,PROSITE_profiles:PS51406,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Superfamily_domains:SSF56496																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	39133107	39133107	G	A	1	0	0	0	0	0	0	0	1	3429	1136	40	1		1	CNTNAP3	9	39133107	Silent	SNP	G	C3N-00294_TP	3327510	39133107	99261610	665	14167											
SPATA31A1	0	.	GRCh38	chr9	39360857	39360857	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctcaagtttgtgccgctgTtgtgctccttccagatgggc	4	13	12	12	1	1	1	1	0	0	1	3	1	3	1	4	1	2	4	4	1	1	3	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.3134T>A	p.Val1045Asp	p.V1045D	ENST00000377647	4/4	286	154	132	273	272	1	strelka-varscan-mutect	SPATA31A1,missense_variant,p.Val1045Asp,ENST00000377647,NM_001085452.2;RP11-347J14.4,non_coding_transcript_exon_variant,,ENST00000615174,;SPATA31A1,downstream_gene_variant,,ENST00000473440,;	A	ENST00000377647	Transcript	missense_variant	3154/4256	3134/4086	1045/1361	V/D	gTt/gAt		1		1	SPATA31A1	HGNC	HGNC:23394	protein_coding	YES	CCDS43808.2	ENSP00000366875		A0A0R4J2F1	UPI0001AE6DFD	NM_001085452.2	tolerated(0.7)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		rs1179788436	.												A	3	1	46	39360857	39360857	T	A	1	0	0	0	0	1	0	0	0	15343	1725	60	4		4	SPATA31A1	9	39360857	Missense_Mutation	SNP	T	C3N-00294_TP	227750	39360857	99033860	666	14168											
SPATA31A6	0	.	GRCh38	chr9	42186624	42186624	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctttcccgccacccaccaGagacctgtcagatggaagct	9	8	8	16	1	2	2	1	0	1	2	3	4	3	3	5	1	1	1	5	1	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.922G>C	p.Glu308Gln	p.E308Q	ENST00000332857	4/4	740	593	147	858	858	0	strelka-varscan-mutect	SPATA31A6,missense_variant,p.Glu308Gln,ENST00000332857,NM_001145196.1;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	C	ENST00000332857	Transcript	missense_variant	951/4209	922/4032	308/1343	E/Q	Gag/Cag		1		1	SPATA31A6	HGNC	HGNC:32006	protein_coding	YES	CCDS75837.1	ENSP00000329825	Q5VVP1		UPI0000197F6E	NM_001145196.1	deleterious(0.05)		4/4		hmmpanther:PTHR21859:SF18,hmmpanther:PTHR21859																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	46	42186624	42186624	G	C	1	0	0	0	0	1	0	0	0	15345	943	33	4		4	SPATA31A6	9	42186624	Missense_Mutation	SNP	G	C3N-00294_TP	2825767	42186624	96208093	667	14169											
SPATA31A6	0	.	GRCh38	chr9	42187614	42187614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggccaagggcaaacccagtCcctggcagtcctccacgtcc	9	5	10	17	1	0	0	0	0	0	0	4	0	4	0	6	3	1	2	6	3	2	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1912C>T	p.Pro638Ser	p.P638S	ENST00000332857	4/4	717	557	160	729	729	0	strelka-varscan-mutect	SPATA31A6,missense_variant,p.Pro638Ser,ENST00000332857,NM_001145196.1;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	T	ENST00000332857	Transcript	missense_variant	1941/4209	1912/4032	638/1343	P/S	Ccc/Tcc		1		1	SPATA31A6	HGNC	HGNC:32006	protein_coding	YES	CCDS75837.1	ENSP00000329825	Q5VVP1		UPI0000197F6E	NM_001145196.1	deleterious(0.05)		4/4		hmmpanther:PTHR21859:SF18,hmmpanther:PTHR21859,Pfam_domain:PF14650																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	42187614	42187614	C	T	1	0	0	0	0	1	0	0	0	15345	855	30	3		3	SPATA31A6	9	42187614	Missense_Mutation	SNP	C	C3N-00294_TP	990	42187614	96207103	668	14170											
FOXD4L5	0	.	GRCh38	chr9	65283631	65283631	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggcggtgttggggtaGgcccccgggactggctgcgg	2	6	22	11	4	0	0	0	0	0	0	0	1	0	1	3	9	1	3	3	9	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.747C>A	p.=	p.A249A	ENST00000377420	1/1	30	22	8	24	24	0	strelka-varscan-mutect	FOXD4L5,synonymous_variant,p.=,ENST00000377420,NM_001126334.1;RP11-15J10.1,downstream_gene_variant,,ENST00000445695,;	T	ENST00000377420	Transcript	synonymous_variant	1579/3109	747/1251	249/416	A	gcC/gcA		1		-1	FOXD4L5	HGNC	HGNC:18522	protein_coding	YES	CCDS47977.1	ENSP00000366637	Q5VV16		UPI0000458A33	NM_001126334.1			1/1		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF149,Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		.	.												T	2	4	46	65283631	65283631	G	T	1	0	0	0	0	0	0	0	1	5863	987	35	2		2	FOXD4L5	9	65283631	Silent	SNP	G	C3N-00294_TP	23096017	65283631	73111086	669	14171											
FOXD4L4	0	.	GRCh38	chr9	65737892	65737892	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagccagtcccgggggcCtaccccaacaccgcccccgg	6	2	11	22	4	0	0	0	0	0	0	1	0	1	0	9	3	3	1	9	3	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.747C>A	p.=	p.A249A	ENST00000377413	1/1	451	414	37	536	536	0	varscan-mutect	FOXD4L4,synonymous_variant,p.=,ENST00000377413,NM_199244.3;CBWD5,downstream_gene_variant,,ENST00000377392,NM_001286835.1;CBWD5,downstream_gene_variant,,ENST00000382405,;CBWD5,downstream_gene_variant,,ENST00000430059,;CBWD5,downstream_gene_variant,,ENST00000429800,;CBWD5,downstream_gene_variant,,ENST00000377395,NM_001024916.3;CBWD5,downstream_gene_variant,,ENST00000489273,;CBWD5,downstream_gene_variant,,ENST00000476797,;CBWD5,downstream_gene_variant,,ENST00000468066,;CBWD5,downstream_gene_variant,,ENST00000486191,;CBWD5,downstream_gene_variant,,ENST00000485088,;CBWD5,downstream_gene_variant,,ENST00000461932,;CBWD5,downstream_gene_variant,,ENST00000480229,;CBWD5,downstream_gene_variant,,ENST00000377389,;CBWD5,downstream_gene_variant,,ENST00000486221,;CBWD5,downstream_gene_variant,,ENST00000497250,;CBWD5,downstream_gene_variant,,ENST00000463075,;CBWD5,downstream_gene_variant,,ENST00000491485,;CBWD5,downstream_gene_variant,,ENST00000480819,;	A	ENST00000377413	Transcript	synonymous_variant	1338/2230	747/1251	249/416	A	gcC/gcA		1		1	FOXD4L4	HGNC	HGNC:23762	protein_coding	YES	CCDS75845.1	ENSP00000366630	Q8WXT5		UPI0000246F14	NM_199244.3			1/1		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF149,Low_complexity_(Seg):seg																	LOW		SNV				1										PASS		.	.												A	2	1	46	65737892	65737892	C	A	1	0	0	0	0	0	0	0	1	5862	668	24	2		2	FOXD4L4	9	65737892	Silent	SNP	C	C3N-00294_TP	454261	65737892	72656825	670	14172											
TRPM6	0	.	GRCh38	chr9	74728249	74728249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtggcatacccgggagtttGagcttccggcagcaggagtt	8	9	15	9	2	0	1	0	1	0	0	1	3	1	3	2	4	3	6	2	4	1	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.5925C>T	p.=	p.L1975L	ENST00000360774	38/39	357	296	61	408	408	0	strelka-varscan-mutect	TRPM6,synonymous_variant,p.=,ENST00000360774,NM_017662.4;TRPM6,synonymous_variant,p.=,ENST00000361255,NM_001177311.1;TRPM6,synonymous_variant,p.=,ENST00000449912,NM_001177310.1;	A	ENST00000360774	Transcript	synonymous_variant	6163/8425	5925/6069	1975/2022	L	ctC/ctT		1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4			38/39		PROSITE_profiles:PS51158,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	74728249	74728249	G	A	1	0	0	0	0	0	0	0	1	17096	1277	45	3		3	TRPM6	9	74728249	Silent	SNP	G	C3N-00294_TP	8990357	74728249	63666468	671	14173											
TRPM6	0	.	GRCh38	chr9	74762004	74762004	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtttattccttacttttaAtcttacagatcttcatcaat	11	20	2	8	0	4	1	2	0	2	1	5	1	5	1	1	0	2	1	1	0	5	8	rs763046852		C3N-00294_TP	C3N-00294_NB	A	A																c.4667T>A	p.Ile1556Asn	p.I1556N	ENST00000360774	26/39	155	96	59	224	224	0	strelka-varscan-mutect	TRPM6,missense_variant,p.Ile1556Asn,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Ile1551Asn,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Ile1551Asn,ENST00000449912,NM_001177310.1;	T	ENST00000360774	Transcript	missense_variant	4905/8425	4667/6069	1556/2022	I/N	aTt/aAt	rs763046852	1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4	tolerated_low_confidence(0.37)		26/39		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15																	MODERATE	1	SNV	1			1										PASS		rs763046852	.												T	3	4	46	74762004	74762004	A	T	1	0	0	0	0	1	0	0	0	17096	115	4	4		4	TRPM6	9	74762004	Missense_Mutation	SNP	A	C3N-00294_TP	33755	74762004	63632713	672	14174											
PRUNE2	0	.	GRCh38	chr9	76706840	76706840	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagttgagaattatcttCgttctttgggaacgaagctt	9	16	9	7	2	2	1	0	1	2	1	4	4	3	2	1	1	2	3	1	1	4	7	rs546778607		C3N-00294_TP	C3N-00294_NB	C	C																c.5434G>T	p.Glu1812Ter	p.E1812*	ENST00000376718	8/19	60	50	10	67	67	0	strelka-varscan-mutect	PRUNE2,stop_gained,p.Glu1812Ter,ENST00000376718,NM_015225.2;PRUNE2,stop_gained,p.Glu1453Ter,ENST00000428286,;PRUNE2,stop_gained,p.Glu1812Ter,ENST00000443509,NM_001308047.1,NM_001308048.1;PRUNE2,stop_gained,p.Glu1134Ter,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	A	ENST00000376718	Transcript	stop_gained	5558/12584	5434/9267	1812/3088	E/*	Gaa/Taa	rs546778607,COSM3433254	1		-1	PRUNE2	HGNC	HGNC:25209	protein_coding	YES	CCDS47982.1	ENSP00000365908	Q8WUY3		UPI0001612CC0	NM_015225.2			8/19		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112											0,1						HIGH	1	SNV	5		0,1	1										PASS		rs546778607	.												A	4	1	46	76706840	76706840	C	A	1	0	0	0	0	0	1	0	0	12791	893	31	1		1	PRUNE2	9	76706840	Nonsense_Mutation	SNP	C	C3N-00294_TP	1944836	76706840	61687877	673	14175											
C9orf64	0	.	GRCh38	chr9	83944831	83944831	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaggtcatcagagtatttCagggctccaagatgagcaag	13	9	12	7	0	3	3	3	1	0	2	4	3	4	3	1	2	1	4	1	2	4	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.756G>A	p.=	p.L252L	ENST00000376344	3/4	226	183	43	291	291	0	strelka-varscan-mutect	C9orf64,synonymous_variant,p.=,ENST00000376344,NM_032307.3;C9orf64,synonymous_variant,p.=,ENST00000314700,NM_001317997.1;	T	ENST00000376344	Transcript	synonymous_variant	973/2443	756/1026	252/341	L	ctG/ctA		1		-1	C9orf64	HGNC	HGNC:28144	protein_coding	YES	CCDS6666.2	ENSP00000365522	Q5T6V5		UPI000013E45E	NM_032307.3			3/4		Pfam_domain:PF10343,hmmpanther:PTHR21314,hmmpanther:PTHR21314:SF0																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	83944831	83944831	C	T	1	0	0	0	0	0	0	0	1	2187	813	29	3		3	C9orf64	9	83944831	Silent	SNP	C	C3N-00294_TP	7237991	83944831	54449886	674	14176											
NTRK2	0	.	GRCh38	chr9	84934263	84934263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgctataacctctgtcctGagcaggacaagatcttggtg	11	11	10	9	0	2	2	0	1	2	1	3	3	3	3	2	2	3	2	2	2	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1735G>A	p.Glu579Lys	p.E579K	ENST00000277120	15/19	494	388	106	538	537	1	strelka-varscan-mutect	NTRK2,missense_variant,p.Glu579Lys,ENST00000277120,;NTRK2,missense_variant,p.Glu579Lys,ENST00000376214,NM_006180.4;NTRK2,missense_variant,p.Glu563Lys,ENST00000376213,;NTRK2,missense_variant,p.Glu563Lys,ENST00000323115,NM_001018064.2;	A	ENST00000277120	Transcript	missense_variant	2218/8633	1735/2517	579/838	E/K	Gag/Aag		1		1	NTRK2	HGNC	HGNC:8032	protein_coding	YES	CCDS6671.1	ENSP00000277120	Q16620	A0A024R230	UPI000006FA0D		deleterious(0.03)		15/19		Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF136,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	84934263	84934263	G	A	1	0	0	0	0	1	0	0	0	10773	1291	45	3		3	NTRK2	9	84934263	Missense_Mutation	SNP	G	C3N-00294_TP	989432	84934263	53460454	675	14177											
C9orf47	0	.	GRCh38	chr9	88991469	88991469	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctctgactcgctcgggcaGaggccgaggaagccggttcc	6	7	15	13	4	1	2	0	1	1	1	5	4	2	3	3	4	1	3	3	4	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.247-1G>C		p.X83_splice	ENST00000334490		354	267	87	345	345	0	strelka-varscan-mutect	C9orf47,splice_acceptor_variant,,ENST00000375851,NM_001142413.1;C9orf47,splice_acceptor_variant,,ENST00000334490,NM_001001938.3;C9orf47,splice_acceptor_variant,,ENST00000375850,;S1PR3,5_prime_UTR_variant,,ENST00000358157,NM_005226.3;	C	ENST00000334490	Transcript	splice_acceptor_variant	-/4829	247/609	83/202				1		1	C9orf47	HGNC	HGNC:23669	protein_coding	YES	CCDS35062.1	ENSP00000335616	Q6ZRZ4		UPI00001C0EE0	NM_001001938.3				1/2																		HIGH	1	SNV	1			1										PASS		rs1412408279	.												C	5	2	46	88991469	88991469	G	C	1	0	0	0	0	0	0	1	0	2184	956	33	4		4	C9orf47	9	88991469	Splice_Site	SNP	G	C3N-00294_TP	4057206	88991469	49403248	676	14178											
SECISBP2	0	.	GRCh38	chr9	89339909	89339909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttgcatctgaaagaagaGacagaatagagacaccgaaa	19	5	10	7	1	1	5	0	1	1	4	1	8	1	5	1	0	1	2	1	0	5	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1258G>A	p.Asp420Asn	p.D420N	ENST00000375807	9/17	465	373	92	495	495	0	strelka-varscan-mutect	SECISBP2,missense_variant,p.Asp352Asn,ENST00000534113,NM_001282690.1;SECISBP2,missense_variant,p.Asp420Asn,ENST00000375807,NM_001282688.1,NM_024077.4;SECISBP2,missense_variant,p.Asp347Asn,ENST00000339901,NM_001282689.1;SECISBP2,missense_variant,p.Asp217Asn,ENST00000425851,;SECISBP2,downstream_gene_variant,,ENST00000440898,;SECISBP2,non_coding_transcript_exon_variant,,ENST00000477484,;	A	ENST00000375807	Transcript	missense_variant	1329/3462	1258/2565	420/854	D/N	Gac/Aac		1		1	SECISBP2	HGNC	HGNC:30972	protein_coding	YES	CCDS6683.1	ENSP00000364965	Q96T21		UPI00001AEA0A	NM_001282688.1,NM_024077.4	tolerated(1)		9/17		hmmpanther:PTHR13284,hmmpanther:PTHR13284:SF9																	MODERATE	1	SNV	1			1										PASS		rs1226906024	.												A	3	1	46	89339909	89339909	G	A	1	0	0	0	0	1	0	0	0	14283	942	33	3		3	SECISBP2	9	89339909	Missense_Mutation	SNP	G	C3N-00294_TP	348440	89339909	49054808	677	14179											
OGN	0	.	GRCh38	chr9	92403290	92403290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttggctaaatatggattCttcaaaattatctgttccat	12	17	5	7	0	4	0	1	0	3	0	5	1	5	1	1	2	0	2	1	2	6	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.118G>C	p.Glu40Gln	p.E40Q	ENST00000262551	2/7	134	101	33	152	152	0	strelka-varscan-mutect	OGN,missense_variant,p.Glu40Gln,ENST00000262551,NM_033014.2;OGN,missense_variant,p.Glu40Gln,ENST00000375561,NM_014057.3;OGN,missense_variant,p.Glu98Gln,ENST00000447356,;CENPP,intron_variant,,ENST00000375587,NM_001012267.2;	G	ENST00000262551	Transcript	missense_variant	539/2971	118/897	40/298	E/Q	Gaa/Caa		1		-1	OGN	HGNC	HGNC:8126	protein_coding	YES	CCDS6695.1	ENSP00000262551	P20774	A8K0R3	UPI00000540ED	NM_033014.2	tolerated(0.1)		2/7																			MODERATE		SNV	5			1										PASS		.	.												G	3	3	46	92403290	92403290	C	G	1	0	0	0	0	1	0	0	0	10921	922	32	4		4	OGN	9	92403290	Missense_Mutation	SNP	C	C3N-00294_TP	3063381	92403290	45991427	678	14180											
ANP32B	0	.	GRCh38	chr9	97983591	97983591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatccacctggagctgagGaaccggaccccggcagctgt	9	5	14	13	2	0	1	0	1	0	0	1	5	1	5	5	5	3	3	5	5	1	0	rs775002531		C3N-00294_TP	C3N-00294_NB	G	G																c.36G>T	p.Arg12Ser	p.R12S	ENST00000339399	1/7	283	229	54	285	284	1	strelka-varscan-mutect	ANP32B,missense_variant,p.Arg12Ser,ENST00000339399,NM_006401.2;RP11-535C21.3,downstream_gene_variant,,ENST00000411981,;ANP32B,upstream_gene_variant,,ENST00000473205,;	T	ENST00000339399	Transcript	missense_variant	231/1463	36/756	12/251	R/S	agG/agT	rs775002531	1		1	ANP32B	HGNC	HGNC:16677	protein_coding	YES	CCDS6732.1	ENSP00000345848	Q92688		UPI0000125029	NM_006401.2	deleterious(0)		1/7		Gene3D:3.80.10.10,hmmpanther:PTHR11375,hmmpanther:PTHR11375:SF2,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs775002531	.												T	3	4	46	97983591	97983591	G	T	1	0	0	0	0	1	0	0	0	814	1165	41	2		2	ANP32B	9	97983591	Missense_Mutation	SNP	G	C3N-00294_TP	5580301	97983591	40411126	679	14181											
ANKS6	0	.	GRCh38	chr9	98778236	98778236	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttctcaccattgtctttGgtcacaggggccgcatcagg	6	13	10	12	1	4	0	3	0	2	0	5	0	4	0	2	4	0	1	2	4	0	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1557C>A	p.=	p.T519T	ENST00000353234	7/15	156	126	30	176	176	0	strelka-varscan-mutect	ANKS6,synonymous_variant,p.=,ENST00000353234,NM_173551.3;ANKS6,synonymous_variant,p.=,ENST00000375019,;ANKS6,upstream_gene_variant,,ENST00000444472,;ANKS6,non_coding_transcript_exon_variant,,ENST00000634393,;	T	ENST00000353234	Transcript	synonymous_variant	1605/7164	1557/2616	519/871	T	acC/acA		1		-1	ANKS6	HGNC	HGNC:26724	protein_coding	YES	CCDS43856.1	ENSP00000297837	Q68DC2		UPI0000530317	NM_173551.3			7/15		hmmpanther:PTHR10627:SF39,hmmpanther:PTHR10627																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	98778236	98778236	G	T	1	0	0	0	0	0	0	0	1	798	1335	47	2		2	ANKS6	9	98778236	Silent	SNP	G	C3N-00294_TP	794645	98778236	39616481	680	14182											
ALG2	0	.	GRCh38	chr9	99221665	99221665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccgccccagcccaggcctCgcggcagccagtccccggca	5	2	13	21	4	0	0	0	0	0	0	2	0	1	0	8	4	2	2	8	4	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.230G>A	p.Arg77Gln	p.R77Q	ENST00000476832	1/2	129	99	30	118	118	0	strelka-varscan-mutect	ALG2,missense_variant,p.Arg77Gln,ENST00000476832,NM_033087.3;ALG2,upstream_gene_variant,,ENST00000319033,;SEC61B,upstream_gene_variant,,ENST00000498603,;SEC61B,upstream_gene_variant,,ENST00000223641,NM_006808.2;SEC61B,upstream_gene_variant,,ENST00000481573,;ALG2,missense_variant,p.Arg77Gln,ENST00000238477,;	T	ENST00000476832	Transcript	missense_variant	292/1880	230/1251	77/416	R/Q	cGa/cAa		1		-1	ALG2	HGNC	HGNC:23159	protein_coding	YES	CCDS6739.1	ENSP00000417764	Q9H553	A0A024R184	UPI0000073E01	NM_033087.3	deleterious(0)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR12526,hmmpanther:PTHR12526:SF401,Pfam_domain:PF13439,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		rs1272919288	.												T	3	4	46	99221665	99221665	C	T	1	0	0	0	0	1	0	0	0	619	884	31	1		1	ALG2	9	99221665	Missense_Mutation	SNP	C	C3N-00294_TP	443429	99221665	39173052	681	14183											
TEX10	0	.	GRCh38	chr9	100320313	100320313	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatccaaatctgtaaggtaGagaagcacaggggaaagctg	15	7	13	6	0	1	2	0	1	1	1	2	4	2	3	1	3	2	4	1	3	5	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2154C>G	p.=	p.L718L	ENST00000374902	11/15	148	117	31	128	128	0	strelka-varscan-mutect	TEX10,synonymous_variant,p.=,ENST00000374902,NM_017746.3;TEX10,synonymous_variant,p.=,ENST00000535814,NM_001161584.1;	C	ENST00000374902	Transcript	synonymous_variant	2331/3074	2154/2790	718/929	L	ctC/ctG		1		-1	TEX10	HGNC	HGNC:25988	protein_coding	YES	CCDS6748.1	ENSP00000364037	Q9NXF1	A0A024R169	UPI000013D052	NM_017746.3			11/15		hmmpanther:PTHR16056,hmmpanther:PTHR16056:SF17																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	46	100320313	100320313	G	C	1	0	0	0	0	0	0	0	1	16193	929	33	4		4	TEX10	9	100320313	Silent	SNP	G	C3N-00294_TP	1098648	100320313	38074404	682	14184											
GRIN3A	0	.	GRCh38	chr9	101670403	101670403	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccagtggagtggccacAtgaaggctccaatgggagct	9	9	14	9	0	0	1	0	1	0	0	2	3	2	3	3	4	1	2	3	4	2	1	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.2009T>C	p.Met670Thr	p.M670T	ENST00000361820	3/9	263	203	60	223	223	0	strelka-varscan-mutect	GRIN3A,missense_variant,p.Met670Thr,ENST00000361820,NM_133445.2;	G	ENST00000361820	Transcript	missense_variant	2610/7770	2009/3348	670/1115	M/T	aTg/aCg		1		-1	GRIN3A	HGNC	HGNC:16767	protein_coding	YES	CCDS6758.1	ENSP00000355155	Q8TCU5		UPI0000367661	NM_133445.2	tolerated(0.06)		3/9		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154,Gene3D:3.40.190.10,SMART_domains:SM00079,Superfamily_domains:SSF53850																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	101670403	101670403	A	G	1	0	0	0	0	1	0	0	0	6665	217	8	5		5	GRIN3A	9	101670403	Missense_Mutation	SNP	A	C3N-00294_TP	1350090	101670403	36724314	683	14185											
GRIN3A	0	.	GRCh38	chr9	101686847	101686847	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcccagcacccaacgaagTtcagggggcatgaccccaaa	12	5	9	15	1	2	1	1	1	1	0	3	2	2	1	4	2	2	3	4	2	3	1	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.1053A>C	p.Glu351Asp	p.E351D	ENST00000361820	2/9	196	174	22	196	196	0	strelka-varscan-mutect	GRIN3A,missense_variant,p.Glu351Asp,ENST00000361820,NM_133445.2;	G	ENST00000361820	Transcript	missense_variant	1654/7770	1053/3348	351/1115	E/D	gaA/gaC		1		-1	GRIN3A	HGNC	HGNC:16767	protein_coding	YES	CCDS6758.1	ENSP00000355155	Q8TCU5		UPI0000367661	NM_133445.2	tolerated(0.35)		2/9		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154,Pfam_domain:PF01094,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	101686847	101686847	T	G	1	0	0	0	0	1	0	0	0	6665	1722	60	5		5	GRIN3A	9	101686847	Missense_Mutation	SNP	T	C3N-00294_TP	16444	101686847	36707870	684	14186											
CYLC2	0	.	GRCh38	chr9	103005349	103005349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattacaagctgtaaaagcaGatgaaaagaaggatgaggat	20	7	11	3	0	0	4	0	2	0	2	0	6	0	6	0	2	3	3	0	2	8	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.718G>A	p.Asp240Asn	p.D240N	ENST00000374798	5/8	120	97	23	173	173	0	strelka-varscan-mutect	CYLC2,missense_variant,p.Asp240Asn,ENST00000374798,NM_001340.4;CYLC2,missense_variant,p.Asp240Asn,ENST00000487798,;CYLC2,missense_variant,p.Asp240Asn,ENST00000612124,;	A	ENST00000374798	Transcript	missense_variant	788/2171	718/1047	240/348	D/N	Gat/Aat		1		1	CYLC2	HGNC	HGNC:2583	protein_coding	YES	CCDS35085.1	ENSP00000420256	Q14093	A0A024R146	UPI0000128C36	NM_001340.4	tolerated(0.18)		5/8		hmmpanther:PTHR16742,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	103005349	103005349	G	A	1	0	0	0	0	1	0	0	0	3945	942	33	3		3	CYLC2	9	103005349	Missense_Mutation	SNP	G	C3N-00294_TP	1318502	103005349	35389368	685	14187											
SMC2	0	.	GRCh38	chr9	104116221	104116221	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttactggtaaaaagctactaGaaaggggggaactgaaacgt	16	8	12	5	1	0	2	0	1	0	1	0	3	0	3	0	4	5	2	0	4	9	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1693G>C	p.Glu565Gln	p.E565Q	ENST00000286398	14/25	90	68	22	153	153	0	strelka-varscan-mutect	SMC2,missense_variant,p.Glu565Gln,ENST00000286398,NM_001042551.1,NM_006444.2,NM_001265602.1;SMC2,missense_variant,p.Glu565Gln,ENST00000374793,;SMC2,missense_variant,p.Glu565Gln,ENST00000374787,NM_001042550.1;	C	ENST00000286398	Transcript	missense_variant	1997/5992	1693/3594	565/1197	E/Q	Gaa/Caa		1		1	SMC2	HGNC	HGNC:14011	protein_coding	YES	CCDS35086.1	ENSP00000286398	O95347	A0A024R158	UPI000013DE44	NM_001042551.1,NM_006444.2,NM_001265602.1	tolerated(0.7)		14/25		Superfamily_domains:0038317,Pfam_domain:PF02463,Pfam_domain:PF06470,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF9,SMART_domains:SM00968																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	104116221	104116221	G	C	1	0	0	0	0	1	0	0	0	15076	943	33	4		4	SMC2	9	104116221	Missense_Mutation	SNP	G	C3N-00294_TP	1110872	104116221	34278496	686	14188											
SMC2	0	.	GRCh38	chr9	104125034	104125034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagcgagaactgaaagatGctcagaaaaaactggattgt	17	7	12	5	1	1	5	1	1	0	4	1	8	1	6	0	1	4	1	0	1	5	1			C3N-00294_TP	C3N-00294_NB	G	G																c.2380G>T	p.Ala794Ser	p.A794S	ENST00000286398	18/25	71	54	17	93	93	0	strelka-varscan-mutect	SMC2,missense_variant,p.Ala794Ser,ENST00000286398,NM_001042551.1,NM_006444.2,NM_001265602.1;SMC2,missense_variant,p.Ala794Ser,ENST00000374793,;SMC2,missense_variant,p.Ala794Ser,ENST00000374787,NM_001042550.1;SMC2,upstream_gene_variant,,ENST00000493955,;	T	ENST00000286398	Transcript	missense_variant	2684/5992	2380/3594	794/1197	A/S	Gct/Tct	COSM1103446,COSM1103447	1		1	SMC2	HGNC	HGNC:14011	protein_coding	YES	CCDS35086.1	ENSP00000286398	O95347	A0A024R158	UPI000013DE44	NM_001042551.1,NM_006444.2,NM_001265602.1	deleterious(0)		18/25		Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF9											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	46	104125034	104125034	G	T	1	0	0	0	0	1	0	0	0	15076	1319	46	2		2	SMC2	9	104125034	Missense_Mutation	SNP	G	C3N-00294_TP	8813	104125034	34269683	687	14189											
SVEP1	0	.	GRCh38	chr9	110579172	110579172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttggacgagaaggtcacGatggccacgcgcgtggccgt	7	8	15	11	6	2	1	1	0	1	1	2	4	2	2	2	4	0	0	2	4	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.372C>T	p.=	p.I124I	ENST00000374469	1/48	272	257	15	311	310	1	strelka-varscan-mutect	SVEP1,synonymous_variant,p.=,ENST00000401783,;SVEP1,synonymous_variant,p.=,ENST00000374469,NM_153366.3;SVEP1,synonymous_variant,p.=,ENST00000374461,;	A	ENST00000374469	Transcript	synonymous_variant	567/12194	372/10716	124/3571	I	atC/atT		1		-1	SVEP1	HGNC	HGNC:15985	protein_coding	YES	CCDS48004.1	ENSP00000363593	Q4LDE5		UPI000153DA74	NM_153366.3			1/48		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	46	110579172	110579172	G	A	1	0	0	0	0	0	0	0	1	15805	1048	37	1		1	SVEP1	9	110579172	Silent	SNP	G	C3N-00294_TP	6454138	110579172	27815545	688	14190											
SNX30	0	.	GRCh38	chr9	112838516	112838516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagtaccttgtggagctgaGagaatacgggcctgtgtact	10	10	14	7	1	0	3	0	1	0	2	0	5	0	4	2	2	4	3	2	2	4	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.833G>C	p.Arg278Thr	p.R278T	ENST00000374232	6/9	113	91	22	103	103	0	strelka-varscan-mutect	SNX30,missense_variant,p.Arg278Thr,ENST00000374232,NM_001012994.1;SNX30,upstream_gene_variant,,ENST00000416585,;	C	ENST00000374232	Transcript	missense_variant	997/7622	833/1314	278/437	R/T	aGa/aCa		1		1	SNX30	HGNC	HGNC:23685	protein_coding	YES	CCDS43865.1	ENSP00000363349	Q5VWJ9		UPI0000457796	NM_001012994.1	deleterious(0.05)		6/9		hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF123,Superfamily_domains:SSF103657																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	46	112838516	112838516	G	C	1	0	0	0	0	1	0	0	0	15221	942	33	4		4	SNX30	9	112838516	Missense_Mutation	SNP	G	C3N-00294_TP	2259344	112838516	25556201	689	14191											
ZFP37	0	.	GRCh38	chr9	113043323	113043323	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacattcattgcattcatatGgtatttcacctgtatgtgtt	9	18	6	8	0	3	0	3	0	0	0	3	0	3	0	1	1	1	4	1	1	3	8	rs766404494		C3N-00294_TP	C3N-00294_NB	G	G																c.1340C>G	p.Pro447Arg	p.P447R	ENST00000553380	4/4	136	112	24	199	199	0	strelka-varscan-mutect	ZFP37,missense_variant,p.Pro432Arg,ENST00000374227,NM_003408.2;ZFP37,missense_variant,p.Pro433Arg,ENST00000555206,NM_001282518.1;ZFP37,missense_variant,p.Pro447Arg,ENST00000553380,NM_001282515.1;ZNF883,intron_variant,,ENST00000619044,NM_001101338.1;	C	ENST00000553380	Transcript	missense_variant	1340/1969	1340/1938	447/645	P/R	cCa/cGa	rs766404494	1		-1	ZFP37	HGNC	HGNC:12863	protein_coding	YES	CCDS65110.1	ENSP00000452552	Q9Y6Q3		UPI0001B04BC3	NM_001282515.1	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF147,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		rs766404494	.												C	3	2	46	113043323	113043323	G	C	1	0	0	0	0	1	0	0	0	18223	1348	47	4		4	ZFP37	9	113043323	Missense_Mutation	SNP	G	C3N-00294_TP	204807	113043323	25351394	690	14192											
KIF12	0	.	GRCh38	chr9	114095217	114095217	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggccccgcttaagtaccatGagggtgaccccgcgccctcc	7	6	11	17	3	0	2	0	2	0	0	1	2	1	2	7	2	1	2	7	2	2	2	rs751815395		C3N-00294_TP	C3N-00294_NB	G	G																c.597C>G	p.=	p.L199L	ENST00000374118	7/16	129	122	7	147	147	0	strelka-mutect	KIF12,synonymous_variant,p.=,ENST00000374118,NM_138424.1;KIF12,non_coding_transcript_exon_variant,,ENST00000473174,;KIF12,upstream_gene_variant,,ENST00000498016,;KIF12,downstream_gene_variant,,ENST00000491059,;KIF12,synonymous_variant,p.=,ENST00000468460,;	C	ENST00000374118	Transcript	synonymous_variant	835/2003	597/1542	199/513	L	ctC/ctG	rs751815395	1		-1	KIF12	HGNC	HGNC:21495	protein_coding	YES	CCDS6801.1	ENSP00000363232		B1ALC3	UPI00000729C3	NM_138424.1			7/16		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF418,SMART_domains:SM00129,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs751815395	.												C	2	2	46	114095217	114095217	G	C	1	0	0	0	0	0	0	0	1	8137	1304	45	4		4	KIF12	9	114095217	Silent	SNP	G	C3N-00294_TP	1051894	114095217	24299500	691	14193											
TNC	0	.	GRCh38	chr9	115046508	115046508	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctgagacctgttatgTccctggtacgttcgggggca	5	12	12	12	2	1	1	0	1	1	1	4	2	2	1	3	3	1	4	3	3	2	3	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.5027A>G	p.Asp1676Gly	p.D1676G	ENST00000350763	17/28	305	266	39	363	362	1	strelka-varscan-mutect	TNC,missense_variant,p.Asp1676Gly,ENST00000350763,NM_002160.3;TNC,missense_variant,p.Asp1313Gly,ENST00000535648,;TNC,missense_variant,p.Asp1494Gly,ENST00000341037,;TNC,missense_variant,p.Asp1313Gly,ENST00000542877,;TNC,missense_variant,p.Asp239Gly,ENST00000544972,;TNC,intron_variant,,ENST00000423613,;TNC,intron_variant,,ENST00000537320,;TNC,downstream_gene_variant,,ENST00000635336,;TNC,non_coding_transcript_exon_variant,,ENST00000473855,;TNC,intron_variant,,ENST00000476680,;TNC,intron_variant,,ENST00000498724,;TNC,downstream_gene_variant,,ENST00000481475,;	C	ENST00000350763	Transcript	missense_variant	5439/7641	5027/6606	1676/2201	D/G	gAc/gGc		1		-1	TNC	HGNC	HGNC:5318	protein_coding	YES	CCDS6811.1	ENSP00000265131	P24821		UPI000013D5BD	NM_002160.3	tolerated(0.32)		17/28		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	115046508	115046508	T	C	1	0	0	0	0	1	0	0	0	16744	1667	58	5		5	TNC	9	115046508	Missense_Mutation	SNP	T	C3N-00294_TP	951291	115046508	23348209	692	14194											
OR1J2	0	.	GRCh38	chr9	122511479	122511479	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattggggccaccatcctGagggtcccttcaaccaaagg	10	8	10	13	0	1	1	1	1	0	0	3	1	3	1	5	4	2	0	5	4	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.678G>T	p.=	p.L226L	ENST00000335302	1/1	114	60	54	160	160	0	strelka-varscan-mutect	OR1J2,synonymous_variant,p.=,ENST00000335302,NM_054107.1;	T	ENST00000335302	Transcript	synonymous_variant	678/942	678/942	226/313	L	ctG/ctT		1		1	OR1J2	HGNC	HGNC:8209	protein_coding	YES	CCDS35121.1	ENSP00000335575	Q8NGS2	A0A126GW18	UPI0000041CF3	NM_054107.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF324,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs1417054646	.												T	2	4	46	122511479	122511479	G	T	1	0	0	0	0	0	0	0	1	11038	1277	45	2		2	OR1J2	9	122511479	Silent	SNP	G	C3N-00294_TP	7464971	122511479	15883238	693	14195											
OR1L8	0	.	GRCh38	chr9	122567751	122567751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacggtgaggtaaaaacCacaggtggagaaggctttgc	13	6	13	9	1	0	2	0	1	0	1	0	3	0	2	2	5	2	2	2	5	4	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.727G>A	p.Gly243Ser	p.G243S	ENST00000304865	1/1	114	108	6	128	128	0	varscan-mutect	OR1L8,missense_variant,p.Gly243Ser,ENST00000304865,NM_001004454.1;	T	ENST00000304865	Transcript	missense_variant	727/930	727/930	243/309	G/S	Ggt/Agt		1		-1	OR1L8	HGNC	HGNC:15110	protein_coding	YES	CCDS35124.1	ENSP00000306607	Q8NGR8	A0A126GVC5	UPI0000041CB7	NM_001004454.1	tolerated(0.21)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF277,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	46	122567751	122567751	C	T	1	0	0	0	0	1	0	0	0	11045	594	21	3		3	OR1L8	9	122567751	Missense_Mutation	SNP	C	C3N-00294_TP	56272	122567751	15826966	694	14196											
DENND1A	0	.	GRCh38	chr9	123583232	123583232	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggtgttggtgtccacattCaggatcacgacatcatccag	10	10	11	10	1	3	0	3	0	0	0	5	2	5	1	2	3	0	1	2	3	0	2			C3N-00294_TP	C3N-00294_NB	C	C																c.804G>C	p.=	p.L268L	ENST00000373624	12/22	97	83	14	123	123	0	strelka-varscan-mutect	DENND1A,synonymous_variant,p.=,ENST00000373624,NM_020946.1;DENND1A,synonymous_variant,p.=,ENST00000373620,NM_024820.2;DENND1A,synonymous_variant,p.=,ENST00000373618,;DENND1A,synonymous_variant,p.=,ENST00000394215,;DENND1A,non_coding_transcript_exon_variant,,ENST00000473039,;DENND1A,non_coding_transcript_exon_variant,,ENST00000491650,;DENND1A,non_coding_transcript_exon_variant,,ENST00000474676,;DENND1A,upstream_gene_variant,,ENST00000497135,;	G	ENST00000373624	Transcript	synonymous_variant	1006/5010	804/3030	268/1009	L	ctG/ctC	COSM1105033,COSM4875657,COSM4875658,COSM4875659	1		-1	DENND1A	HGNC	HGNC:29324	protein_coding	YES	CCDS35133.1	ENSP00000362727	Q8TEH3		UPI00004589D2	NM_020946.1			12/22		Pfam_domain:PF02141,PROSITE_profiles:PS50211,hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF22,SMART_domains:SM00799											1,1,1,1						LOW	1	SNV	5		1,1,1,1	1										PASS		.	.												G	2	3	46	123583232	123583232	C	G	1	0	0	0	0	0	0	0	1	4230	813	29	4		4	DENND1A	9	123583232	Silent	SNP	C	C3N-00294_TP	1015481	123583232	14811485	695	14197											
NEK6	0	.	GRCh38	chr9	124321537	124321537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaacattgtgctggagttgGctgacgcaggggacctctcg	7	10	15	9	2	1	2	0	2	1	0	2	4	1	4	1	4	2	4	1	4	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.475G>T	p.Ala159Ser	p.A159S	ENST00000373600	6/11	138	88	50	191	191	0	strelka-varscan-mutect	NEK6,missense_variant,p.Ala159Ser,ENST00000373600,NM_001145001.2;NEK6,missense_variant,p.Ala125Ser,ENST00000320246,NM_014397.5;NEK6,missense_variant,p.Ala125Ser,ENST00000373603,;NEK6,missense_variant,p.Ala150Ser,ENST00000539416,NM_001166169.1;NEK6,missense_variant,p.Ala125Ser,ENST00000546191,NM_001166170.1;NEK6,missense_variant,p.Ala143Ser,ENST00000540326,NM_001166167.1;NEK6,missense_variant,p.Ala125Ser,ENST00000545174,NM_001166168.1;NEK6,missense_variant,p.Ala159Ser,ENST00000394199,NM_001166171.1;NEK6,missense_variant,p.Ala125Ser,ENST00000425237,;NEK6,missense_variant,p.Ala125Ser,ENST00000422297,;NEK6,missense_variant,p.Ala125Ser,ENST00000444973,;NEK6,missense_variant,p.Ala125Ser,ENST00000373596,;NEK6,missense_variant,p.Ala57Ser,ENST00000454453,;NEK6,missense_variant,p.Ala159Ser,ENST00000423785,;NEK6,missense_variant,p.Ala125Ser,ENST00000447379,;	T	ENST00000373600	Transcript	missense_variant	690/3619	475/1044	159/347	A/S	Gct/Tct		1		1	NEK6	HGNC	HGNC:7749	protein_coding	YES	CCDS48015.1	ENSP00000362702	Q9HC98		UPI000013ED34	NM_001145001.2	deleterious(0.03)		6/11		Gene3D:1.10.510.10,Pfam_domain:PF00069,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24362,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	124321537	124321537	G	T	1	0	0	0	0	1	0	0	0	10356	1203	42	2		2	NEK6	9	124321537	Missense_Mutation	SNP	G	C3N-00294_TP	738305	124321537	14073180	696	14198											
PPP6C	0	.	GRCh38	chr9	125189623	125189623	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccccacagccggaaggggcGagcccgcaaatagggctcac	10	2	14	15	3	1	0	1	0	0	0	1	2	1	1	4	4	2	2	4	4	3	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.96C>G	p.=	p.L32L	ENST00000451402	1/8	190	155	35	245	245	0	strelka-varscan-mutect	PPP6C,synonymous_variant,p.=,ENST00000451402,NM_001123355.1;PPP6C,intron_variant,,ENST00000415905,NM_001123369.1;PPP6C,intron_variant,,ENST00000373547,NM_002721.4;PPP6C,intron_variant,,ENST00000456642,;	C	ENST00000451402	Transcript	synonymous_variant	317/4349	96/1029	32/342	L	ctC/ctG		1		-1	PPP6C	HGNC	HGNC:9323	protein_coding	YES	CCDS48018.1	ENSP00000392147	O00743		UPI000172E24D	NM_001123355.1			1/8																			LOW	1	SNV	2			1										PASS		.	.												C	2	2	46	125189623	125189623	G	C	1	0	0	0	0	0	0	0	1	12533	1045	37	4		4	PPP6C	9	125189623	Silent	SNP	G	C3N-00294_TP	868086	125189623	13205094	697	14199											
ST6GALNAC6	0	.	GRCh38	chr9	127894635	127894635	+	Silent	SNP	G	G	T																															ttggcactgttggagctgtaGaggatgaggatggtgatgag																								novel		C3N-00294_TP	C3N-00294_NB	G	G																c.174C>A	p.=	p.L58L	ENST00000373142	4/7	229	189	40	278	276	2	strelka-varscan-mutect	ST6GALNAC6,synonymous_variant,p.=,ENST00000373146,NM_013443.4;ST6GALNAC6,synonymous_variant,p.=,ENST00000373142,NM_001286999.1;ST6GALNAC6,synonymous_variant,p.=,ENST00000373141,NM_001287001.1;ST6GALNAC6,synonymous_variant,p.=,ENST00000373144,NM_001287000.1;ST6GALNAC6,synonymous_variant,p.=,ENST00000622357,NM_001287002.1;ST6GALNAC6,synonymous_variant,p.=,ENST00000291839,;ST6GALNAC6,synonymous_variant,p.=,ENST00000542456,NM_001287003.1;ST6GALNAC6,synonymous_variant,p.=,ENST00000447681,;ST6GALNAC6,splice_region_variant,,ENST00000480417,;ST6GALNAC6,splice_region_variant,,ENST00000494541,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000485320,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000463086,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000481355,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000478319,;ST6GALNAC6,downstream_gene_variant,,ENST00000494611,;	T	ENST00000373142	Transcript	synonymous_variant	347/2448	174/1125	58/374	L	ctC/ctA		1		-1	ST6GALNAC6	HGNC	HGNC:23364	protein_coding	YES	CCDS69669.1	ENSP00000362235	Q969X2		UPI000046FDCC	NM_001286999.1			4/7		hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF45,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	127894635	127894635	G	T	1	0	0	0	0	0	0	0	1	15606	929	33	2		2	ST6GALNAC6	9	127894635	Silent	SNP	G	C3N-00294_TP	2705012	127894635	10500082	698	14200	316	2									
ST6GALNAC6	0	.	GRCh38	chr9	127894641	127894641	+	Silent	SNP	G	G	A																															ctgttggagctgtagaggatGaggatggtgatgagggcaaa																								novel		C3N-00294_TP	C3N-00294_NB	G	G																c.168C>T	p.=	p.L56L	ENST00000373142	4/7	218	178	40	248	248	0	strelka-varscan-mutect	ST6GALNAC6,synonymous_variant,p.=,ENST00000373146,NM_013443.4;ST6GALNAC6,synonymous_variant,p.=,ENST00000373142,NM_001286999.1;ST6GALNAC6,synonymous_variant,p.=,ENST00000373141,NM_001287001.1;ST6GALNAC6,synonymous_variant,p.=,ENST00000373144,NM_001287000.1;ST6GALNAC6,synonymous_variant,p.=,ENST00000622357,NM_001287002.1;ST6GALNAC6,synonymous_variant,p.=,ENST00000291839,;ST6GALNAC6,synonymous_variant,p.=,ENST00000542456,NM_001287003.1;ST6GALNAC6,synonymous_variant,p.=,ENST00000447681,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000485320,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000463086,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000481355,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000478319,;ST6GALNAC6,intron_variant,,ENST00000480417,;ST6GALNAC6,intron_variant,,ENST00000494541,;ST6GALNAC6,downstream_gene_variant,,ENST00000494611,;	A	ENST00000373142	Transcript	synonymous_variant	341/2448	168/1125	56/374	L	ctC/ctT		1		-1	ST6GALNAC6	HGNC	HGNC:23364	protein_coding	YES	CCDS69669.1	ENSP00000362235	Q969X2		UPI000046FDCC	NM_001286999.1			4/7		hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF45,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	127894641	127894641	G	A	1	0	0	0	0	0	0	0	1	15606	1277	45	3		3	ST6GALNAC6	9	127894641	Silent	SNP	G	C3N-00294_TP	6	127894641	10500076	699	14201	316	2									
PIP5KL1	0	.	GRCh38	chr9	127925241	127925241	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccagttccatctggcggagGaaccagctccgctggggccc	6	7	13	15	2	1	0	0	0	1	0	4	2	4	2	5	5	2	3	5	5	1	1			C3N-00294_TP	C3N-00294_NB	G	G																c.783C>T	p.=	p.F261F	ENST00000388747	9/10	114	88	26	127	127	0	strelka-varscan-mutect	PIP5KL1,synonymous_variant,p.=,ENST00000388747,NM_001135219.1;PIP5KL1,synonymous_variant,p.=,ENST00000300432,NM_173492.1;PIP5KL1,non_coding_transcript_exon_variant,,ENST00000490773,;PIP5KL1,non_coding_transcript_exon_variant,,ENST00000464108,;PIP5KL1,non_coding_transcript_exon_variant,,ENST00000464759,;PIP5KL1,non_coding_transcript_exon_variant,,ENST00000495448,;PIP5KL1,non_coding_transcript_exon_variant,,ENST00000497234,;PIP5KL1,intron_variant,,ENST00000498783,;PIP5KL1,downstream_gene_variant,,ENST00000492296,;PIP5KL1,upstream_gene_variant,,ENST00000485562,;PIP5KL1,upstream_gene_variant,,ENST00000477191,;PIP5KL1,downstream_gene_variant,,ENST00000476624,;	A	ENST00000388747	Transcript	synonymous_variant	828/2198	783/1185	261/394	F	ttC/ttT	COSM5537085,COSM5537086	1		-1	PIP5KL1	HGNC	HGNC:28711	protein_coding	YES	CCDS48030.1	ENSP00000373399	Q5T9C9		UPI0000EDA26F	NM_001135219.1			9/10		PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF46,Gene3D:1bo1A02,Pfam_domain:PF01504,SMART_domains:SM00330,Superfamily_domains:SSF56104											1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												A	2	1	46	127925241	127925241	G	A	1	0	0	0	0	0	0	0	1	12037	1165	41	3		3	PIP5KL1	9	127925241	Silent	SNP	G	C3N-00294_TP	30600	127925241	10469476	700	14202											
SWI5	0	.	GRCh38	chr9	128276267	128276267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggtgcgcgcgcagctttCtgtgcgccagttcacactcc	4	11	12	14	4	2	0	1	0	1	0	3	0	3	0	2	1	3	3	2	1	0	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.122C>T	p.Ser41Phe	p.S41F	ENST00000320188	1/5	147	109	38	171	171	0	strelka-varscan-mutect	SWI5,missense_variant,p.Ser41Phe,ENST00000320188,NM_001040011.1;SWI5,5_prime_UTR_variant,,ENST00000419867,;SWI5,5_prime_UTR_variant,,ENST00000608796,;SWI5,5_prime_UTR_variant,,ENST00000418976,;SWI5,intron_variant,,ENST00000372898,;SWI5,intron_variant,,ENST00000495313,;GOLGA2,upstream_gene_variant,,ENST00000421699,NM_004486.4;GOLGA2,upstream_gene_variant,,ENST00000611957,;GOLGA2,upstream_gene_variant,,ENST00000609374,;GOLGA2,upstream_gene_variant,,ENST00000610329,;GOLGA2,upstream_gene_variant,,ENST00000450617,;GOLGA2,upstream_gene_variant,,ENST00000458730,;GOLGA2,upstream_gene_variant,,ENST00000490628,;	T	ENST00000320188	Transcript	missense_variant	122/980	122/708	41/235	S/F	tCt/tTt		1		1	SWI5	HGNC	HGNC:31412	protein_coding	YES	CCDS43883.1	ENSP00000316609	Q1ZZU3		UPI00001D76F5	NM_001040011.1	deleterious_low_confidence(0.03)		1/5		hmmpanther:PTHR28529,hmmpanther:PTHR28529:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	128276267	128276267	C	T	1	0	0	0	0	1	0	0	0	15811	913	32	3		3	SWI5	9	128276267	Missense_Mutation	SNP	C	C3N-00294_TP	351026	128276267	10118450	701	14203											
SPTAN1	0	.	GRCh38	chr9	128617705	128617705	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccggcgtgcagaacctgaGgaagaagcacaagcggctgg	13	3	15	10	3	0	3	0	1	0	2	0	4	0	4	2	4	5	3	2	4	5	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.5423G>C	p.Arg1808Thr	p.R1808T	ENST00000372739	42/57	560	326	234	638	638	0	strelka-varscan-mutect	SPTAN1,missense_variant,p.Arg1803Thr,ENST00000372731,NM_003127.3;SPTAN1,missense_variant,p.Arg1808Thr,ENST00000372739,NM_001130438.2;SPTAN1,missense_variant,p.Arg1788Thr,ENST00000630804,;SPTAN1,missense_variant,p.Arg1783Thr,ENST00000358161,NM_001195532.1;SPTAN1,missense_variant,p.Arg1808Thr,ENST00000630866,;SPTAN1,non_coding_transcript_exon_variant,,ENST00000637434,;SPTAN1,upstream_gene_variant,,ENST00000491712,;SPTAN1,downstream_gene_variant,,ENST00000476825,;SPTAN1,downstream_gene_variant,,ENST00000629378,;	C	ENST00000372739	Transcript	missense_variant	5533/7868	5423/7434	1808/2477	R/T	aGg/aCg		1		1	SPTAN1	HGNC	HGNC:11273	protein_coding	YES	CCDS48036.1	ENSP00000361824	Q13813		UPI000045894C	NM_001130438.2	tolerated(0.15)		42/57		hmmpanther:PTHR11915:SF283,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	128617705	128617705	G	C	1	0	0	0	0	1	0	0	0	15473	1000	35	4		4	SPTAN1	9	128617705	Missense_Mutation	SNP	G	C3N-00294_TP	341438	128617705	9777012	702	14204											
FAM73B	0	.	GRCh38	chr9	129067772	129067772	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccgtgcttctctccacaGagccccaaaggcttcctgga	7	8	11	15	1	1	1	0	0	1	1	4	2	3	2	5	3	2	2	5	3	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1171-1G>A		p.X391_splice	ENST00000358369		104	90	14	120	120	0	strelka-mutect	FAM73B,splice_acceptor_variant,,ENST00000358369,NM_032809.2;FAM73B,splice_acceptor_variant,,ENST00000474639,;FAM73B,splice_acceptor_variant,,ENST00000495975,;FAM73B,downstream_gene_variant,,ENST00000494608,;FAM73B,splice_acceptor_variant,,ENST00000439290,;FAM73B,splice_acceptor_variant,,ENST00000445183,;FAM73B,splice_acceptor_variant,,ENST00000414342,;FAM73B,non_coding_transcript_exon_variant,,ENST00000471943,;FAM73B,upstream_gene_variant,,ENST00000483458,;FAM73B,upstream_gene_variant,,ENST00000492279,;	A	ENST00000358369	Transcript	splice_acceptor_variant	-/3637	1171/1782	391/593				1		1	FAM73B	HGNC	HGNC:23621	protein_coding	YES	CCDS6917.1	ENSP00000351138	Q7L4E1		UPI00001B4EFD	NM_032809.2				11/15																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	46	129067772	129067772	G	A	1	0	0	0	0	0	0	1	0	5484	956	33	3		3	FAM73B	9	129067772	Splice_Site	SNP	G	C3N-00294_TP	450067	129067772	9326945	703	14205											
HMCN2	0	.	GRCh38	chr9	130385631	130385631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtcggggacaaagctGtcctgagctgcgagacagat	10	7	16	8	2	0	4	0	2	0	2	2	6	1	5	1	3	3	2	1	3	1	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.9175G>T	p.Val3059Phe	p.V3059F	ENST00000624552	60/98	307	183	124	326	326	0	strelka-varscan-mutect	HMCN2,missense_variant,p.Val3059Phe,ENST00000624552,NM_001291815.1;HMCN2,missense_variant,p.Val92Phe,ENST00000487727,;	T	ENST00000624552	Transcript	missense_variant	9175/15610	9175/15180	3059/5059	V/F	Gtc/Ttc		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	deleterious(0.01)		60/98		Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	130385631	130385631	G	T	1	0	0	0	0	1	0	0	0	7112	1377	48	2		2	HMCN2	9	130385631	Missense_Mutation	SNP	G	C3N-00294_TP	1317859	130385631	8009086	704	14206											
HMCN2	0	.	GRCh38	chr9	130405988	130405988	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacctatacctgtaccgctGagaacgccgtgggccgggcc	7	6	13	15	4	0	1	0	1	0	1	0	2	0	1	6	2	3	3	6	2	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.12313G>C	p.Glu4105Gln	p.E4105Q	ENST00000624552	82/98	95	75	20	90	90	0	strelka-varscan-mutect	HMCN2,missense_variant,p.Glu4105Gln,ENST00000624552,NM_001291815.1;HMCN2,3_prime_UTR_variant,,ENST00000487727,;HMCN2,non_coding_transcript_exon_variant,,ENST00000480829,;	C	ENST00000624552	Transcript	missense_variant	12313/15610	12313/15180	4105/5059	E/Q	Gag/Cag		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	tolerated(0.27)		82/98		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	46	130405988	130405988	G	C	1	0	0	0	0	1	0	0	0	7112	1291	45	4		4	HMCN2	9	130405988	Missense_Mutation	SNP	G	C3N-00294_TP	20357	130405988	7988729	705	14207											
PRRC2B	0	.	GRCh38	chr9	131459215	131459215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaatgagctctgcagaCagtgcggacgctaagcggac	10	8	13	10	3	2	2	1	1	1	1	2	4	2	4	0	2	4	3	0	2	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1263C>T	p.=	p.D421D	ENST00000357304	10/31	164	126	38	161	160	1	strelka-varscan-mutect	PRRC2B,synonymous_variant,p.=,ENST00000357304,NM_013318.3;PRRC2B,synonymous_variant,p.=,ENST00000405995,;PRRC2B,intron_variant,,ENST00000422467,;	T	ENST00000357304	Transcript	synonymous_variant	1318/11042	1263/6690	421/2229	D	gaC/gaT		1		1	PRRC2B	HGNC	HGNC:28121	protein_coding	YES	CCDS48044.1	ENSP00000349856	Q5JSZ5		UPI00002374A3	NM_013318.3			10/31		hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	46	131459215	131459215	C	T	1	0	0	0	0	0	0	0	1	12749	477	17	3		3	PRRC2B	9	131459215	Silent	SNP	C	C3N-00294_TP	1053227	131459215	6935502	706	14208											
TSC1	0	.	GRCh38	chr9	132897538	132897538	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggaggtatcaagcctctGagtctgctggagaacatggc	9	10	14	8	0	3	2	1	1	2	1	3	4	3	3	1	4	3	2	1	4	3	2	rs397514871		C3N-00294_TP	C3N-00294_NB	G	G																c.2698C>T	p.Gln900Ter	p.Q900*	ENST00000298552	21/23	206	184	22	212	212	0	strelka-varscan-mutect	TSC1,stop_gained,p.Gln900Ter,ENST00000298552,NM_000368.4,NM_001162426.1;TSC1,stop_gained,p.Gln900Ter,ENST00000440111,;TSC1,stop_gained,p.Gln849Ter,ENST00000545250,NM_001162427.1;	A	ENST00000298552	Transcript	stop_gained	2920/8604	2698/3495	900/1164	Q/*	Cag/Tag	rs397514871,CM104950,COSM4954457	1		-1	TSC1	HGNC	HGNC:12362	protein_coding	YES	CCDS6956.1	ENSP00000298552	Q92574	X5D9D2	UPI000013773E	NM_000368.4,NM_001162426.1			21/23		hmmpanther:PTHR15154										not_provided,pathogenic	0,0,1						HIGH	1	SNV	1		1,1,1	1										PASS		rs397514871	.												A	4	1	46	132897538	132897538	G	A	1	0	0	0	0	0	1	0	0	17111	1299	45	3		3	TSC1	9	132897538	Nonsense_Mutation	SNP	G	C3N-00294_TP	1438323	132897538	5497179	707	14209											
STKLD1	0	.	GRCh38	chr9	133405298	133405298	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtagtatgaaggccctgctCcaggagatcaaggagcgctt	11	8	13	9	1	1	2	1	1	0	1	2	4	2	3	2	3	2	4	2	3	4	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1920C>G	p.=	p.L640L	ENST00000371957	18/18	89	76	13	88	88	0	strelka-varscan-mutect	STKLD1,synonymous_variant,p.=,ENST00000371957,NM_153710.4;REXO4,downstream_gene_variant,,ENST00000371942,NM_001279350.1,NM_001279351.1,NM_020385.3;REXO4,downstream_gene_variant,,ENST00000371935,NM_001279349.1;REXO4,downstream_gene_variant,,ENST00000454825,;	G	ENST00000371957	Transcript	synonymous_variant	2027/2825	1920/2043	640/680	L	ctC/ctG		1		1	STKLD1	HGNC	HGNC:28669	protein_coding	YES	CCDS35169.1	ENSP00000361025	Q8NE28		UPI00001D768C	NM_153710.4			18/18		hmmpanther:PTHR24363,hmmpanther:PTHR24363:SF5,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	46	133405298	133405298	C	G	1	0	0	0	0	0	0	0	1	15685	842	30	4		4	STKLD1	9	133405298	Silent	SNP	C	C3N-00294_TP	507760	133405298	4989419	708	14210											
VAV2	0	.	GRCh38	chr9	133812170	133812170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtagatgtcgtcccctccatCctcacacgggacgcagtcgt	7	9	10	15	4	1	1	1	0	0	1	6	2	4	2	4	1	0	2	4	1	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.496G>A	p.Asp166Asn	p.D166N	ENST00000371850	5/30	217	175	42	292	292	0	strelka-varscan-mutect	VAV2,missense_variant,p.Asp166Asn,ENST00000371851,;VAV2,missense_variant,p.Asp166Asn,ENST00000371850,NM_001134398.1;VAV2,missense_variant,p.Asp166Asn,ENST00000406606,NM_003371.3;	T	ENST00000371850	Transcript	missense_variant	528/4837	496/2637	166/878	D/N	Gat/Aat		1		-1	VAV2	HGNC	HGNC:12658	protein_coding	YES	CCDS48053.1	ENSP00000360916	P52735		UPI000013E06E	NM_001134398.1	tolerated(0.05)		5/30		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF95,Low_complexity_(Seg):seg,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	133812170	133812170	C	T	1	0	0	0	0	1	0	0	0	17677	855	30	3		3	VAV2	9	133812170	Missense_Mutation	SNP	C	C3N-00294_TP	406872	133812170	4582547	709	14211											
CAMSAP1	0	.	GRCh38	chr9	135822694	135822694	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgatgcccatggggaattctGagcatggaatcggggtaaaa	12	8	14	7	2	1	1	0	1	1	0	2	4	1	3	1	5	2	2	1	5	4	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1967C>G	p.Ser656Ter	p.S656*	ENST00000389532	11/17	52	42	10	74	74	0	strelka-varscan-mutect	CAMSAP1,stop_gained,p.Ser656Ter,ENST00000389532,NM_015447.3;CAMSAP1,stop_gained,p.Ser378Ter,ENST00000312405,;CAMSAP1,stop_gained,p.Ser667Ter,ENST00000409386,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000483991,;CAMSAP1,upstream_gene_variant,,ENST00000493088,;CAMSAP1,upstream_gene_variant,,ENST00000482664,;CAMSAP1,upstream_gene_variant,,ENST00000487868,;	C	ENST00000389532	Transcript	stop_gained	2032/7696	1967/4809	656/1602	S/*	tCa/tGa		1		-1	CAMSAP1	HGNC	HGNC:19946	protein_coding	YES	CCDS35176.2	ENSP00000374183	Q5T5Y3		UPI0000EDA283	NM_015447.3			11/17		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF3																	HIGH	1	SNV	5			1										PASS		rs1419903826	.												C	4	2	46	135822694	135822694	G	C	1	0	0	0	0	0	1	0	0	2303	1294	45	4		4	CAMSAP1	9	135822694	Nonsense_Mutation	SNP	G	C3N-00294_TP	2010524	135822694	2572023	710	14212											
AGPAT2	0	.	GRCh38	chr9	136687321	136687321	+	Silent	SNP	A	A	G																															ctgcaccagcagcagcagcaAcagcagcgccgcggccagac																								rs756247321		C3N-00294_TP	C3N-00294_NB	A	A																c.37T>C	p.=	p.L13L	ENST00000371696	1/6	147	136	11	109	108	1	varscan-mutect	AGPAT2,synonymous_variant,p.=,ENST00000371696,NM_006412.3;AGPAT2,synonymous_variant,p.=,ENST00000371694,NM_001012727.1;AGPAT2,synonymous_variant,p.=,ENST00000538402,;AGPAT2,non_coding_transcript_exon_variant,,ENST00000470861,;	G	ENST00000371696	Transcript	synonymous_variant	103/1512	37/837	13/278	L	Ttg/Ctg	rs756247321,COSM5639546	1		-1	AGPAT2	HGNC	HGNC:325	protein_coding	YES	CCDS7003.1	ENSP00000360761	O15120	A0A024R8I7	UPI0000131BD3	NM_006412.3			1/6		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR10434,hmmpanther:PTHR10434:SF2											0,1						LOW	1	SNV	1		0,1	1										PASS		rs756247321	.												G	2	3	46	136687321	136687321	A	G	1	0	0	0	0	0	0	0	1	469	40	2	5		5	AGPAT2	9	136687321	Silent	SNP	A	C3N-00294_TP	864627	136687321	1707396	711	14213	317	2									
AGPAT2	0	.	GRCh38	chr9	136687324	136687324	+	Silent	SNP	G	G	A																															caccagcagcagcagcaacaGcagcgccgcggccagacacg																								rs780288590		C3N-00294_TP	C3N-00294_NB	G	G																c.34C>T	p.=	p.L12L	ENST00000371696	1/6	149	141	8	105	105	0	varscan-mutect	AGPAT2,synonymous_variant,p.=,ENST00000371696,NM_006412.3;AGPAT2,synonymous_variant,p.=,ENST00000371694,NM_001012727.1;AGPAT2,synonymous_variant,p.=,ENST00000538402,;AGPAT2,non_coding_transcript_exon_variant,,ENST00000470861,;	A	ENST00000371696	Transcript	synonymous_variant	100/1512	34/837	12/278	L	Ctg/Ttg	rs780288590,COSM5639547	1		-1	AGPAT2	HGNC	HGNC:325	protein_coding	YES	CCDS7003.1	ENSP00000360761	O15120	A0A024R8I7	UPI0000131BD3	NM_006412.3			1/6		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR10434,hmmpanther:PTHR10434:SF2											0,1						LOW	1	SNV	1		0,1	1										PASS		rs780288590	.												A	2	1	46	136687324	136687324	G	A	1	0	0	0	0	0	0	0	1	469	962	34	3		3	AGPAT2	9	136687324	Silent	SNP	G	C3N-00294_TP	3	136687324	1707393	712	14214	317	2									
GRIN1	0	.	GRCh38	chr9	137162911	137162911	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctccgtggatatctacttCcggcgccaggtggagctgag	7	9	14	11	3	1	1	0	1	1	0	3	3	3	3	3	4	3	2	3	4	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2142C>T	p.=	p.F714F	ENST00000371553	16/21	354	283	71	350	350	0	strelka-varscan-mutect	GRIN1,synonymous_variant,p.=,ENST00000371561,NM_007327.3;GRIN1,synonymous_variant,p.=,ENST00000371546,;GRIN1,synonymous_variant,p.=,ENST00000371555,;GRIN1,synonymous_variant,p.=,ENST00000371550,NM_021569.3;GRIN1,synonymous_variant,p.=,ENST00000371553,NM_001185090.1;GRIN1,synonymous_variant,p.=,ENST00000371560,NM_001185091.1;GRIN1,synonymous_variant,p.=,ENST00000371559,NM_000832.6;GRIN1,3_prime_UTR_variant,,ENST00000350902,;GRIN1,non_coding_transcript_exon_variant,,ENST00000471122,;GRIN1,non_coding_transcript_exon_variant,,ENST00000460273,;GRIN1,downstream_gene_variant,,ENST00000485413,;GRIN1,upstream_gene_variant,,ENST00000473811,;	T	ENST00000371553	Transcript	synonymous_variant	2148/3751	2142/2832	714/943	F	ttC/ttT		1		1	GRIN1	HGNC	HGNC:4584	protein_coding	YES	CCDS55354.1	ENSP00000360608	Q05586		UPI000014AF8E	NM_001185090.1			16/21		hmmpanther:PTHR18966:SF214,hmmpanther:PTHR18966,Pfam_domain:PF00060,Gene3D:3.40.190.10,SMART_domains:SM00079,Superfamily_domains:SSF53850,Superfamily_domains:SSF81324																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	137162911	137162911	C	T	1	0	0	0	0	0	0	0	1	6660	854	30	3		3	GRIN1	9	137162911	Silent	SNP	C	C3N-00294_TP	475587	137162911	1231806	713	14215											
ZMYND19	0	.	GRCh38	chr9	137588661	137588661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagccatccttacttacctCaaaggagtagctctccacca	12	9	5	15	0	2	0	1	0	1	0	4	1	3	1	5	1	4	2	5	1	4	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.109G>A	p.Glu37Lys	p.E37K	ENST00000298585	2/6	151	113	38	153	153	0	strelka-varscan-mutect	ZMYND19,missense_variant,p.Glu37Lys,ENST00000298585,NM_138462.2;ZMYND19,splice_region_variant,,ENST00000471957,;	T	ENST00000298585	Transcript	missense_variant,splice_region_variant	336/1375	109/684	37/227	E/K	Gag/Aag		1		-1	ZMYND19	HGNC	HGNC:21146	protein_coding	YES	CCDS7048.1	ENSP00000298585	Q96E35		UPI0000022A7D	NM_138462.2	deleterious(0.01)		2/6		hmmpanther:PTHR13244:SF5,hmmpanther:PTHR13244																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	137588661	137588661	C	T	1	0	0	0	0	1	0	0	0	18289	840	29	3		3	ZMYND19	9	137588661	Missense_Mutation	SNP	C	C3N-00294_TP	425750	137588661	806056	714	14216											
PRKCQ	0	.	GRCh38	chr10	6428329	6428329	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcttctcgtttaagaattCtttgtcgaaattgctgcagt	8	16	10	7	2	2	1	0	0	2	1	4	2	2	1	0	1	2	4	0	1	3	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1999G>C	p.Glu667Gln	p.E667Q	ENST00000263125	18/18	154	121	33	182	182	0	strelka-varscan-mutect	PRKCQ,missense_variant,p.Glu667Gln,ENST00000263125,NM_001323265.1,NM_006257.4,NM_001282644.1;PRKCQ,missense_variant,p.Glu542Gln,ENST00000539722,NM_001323266.1,NM_001282645.1;PRKCQ,missense_variant,p.Glu604Gln,ENST00000397176,NM_001242413.2;PRKCQ,missense_variant,p.Glu631Gln,ENST00000610727,;	G	ENST00000263125	Transcript	missense_variant	2099/3285	1999/2121	667/706	E/Q	Gaa/Caa		1		-1	PRKCQ	HGNC	HGNC:9410	protein_coding	YES	CCDS7079.1	ENSP00000263125	Q04759		UPI000012DF74	NM_001323265.1,NM_006257.4,NM_001282644.1	deleterious(0.01)		18/18		Pfam_domain:PF00433,PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501105,PROSITE_profiles:PS51285,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF181,SMART_domains:SM00133,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs1374561756	.												G	3	3	46	6428329	6428329	C	G	1	0	0	0	0	1	0	0	0	12648	922	32	4		4	PRKCQ	10	6428329	Missense_Mutation	SNP	C	C3N-00294_TP		6428329	127369093	715	14217											
ARHGAP21	0	.	GRCh38	chr10	24600822	24600822	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaacactgatgggctgctCttcctcagacggagtcgtct	8	12	10	11	2	3	2	1	1	2	1	5	3	4	3	1	2	2	2	1	2	1	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2956G>C	p.Glu986Gln	p.E986Q	ENST00000396432	14/26	156	134	22	207	207	0	varscan-mutect	ARHGAP21,missense_variant,p.Glu986Gln,ENST00000396432,NM_020824.3;ARHGAP21,missense_variant,p.Glu773Gln,ENST00000636789,;ARHGAP21,missense_variant,p.Glu986Gln,ENST00000446003,;ARHGAP21,missense_variant,p.Glu976Gln,ENST00000376410,;ARHGAP21,intron_variant,,ENST00000612832,;ARHGAP21,intron_variant,,ENST00000320481,;ARHGAP21,upstream_gene_variant,,ENST00000418033,;ARHGAP21,upstream_gene_variant,,ENST00000418325,;ARHGAP21,intron_variant,,ENST00000493154,;ARHGAP21,missense_variant,p.Glu79Gln,ENST00000638156,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000486374,;	G	ENST00000396432	Transcript	missense_variant	3443/7167	2956/5877	986/1958	E/Q	Gag/Cag		1		-1	ARHGAP21	HGNC	HGNC:23725	protein_coding	YES	CCDS7144.2	ENSP00000379709	Q5T5U3		UPI0001639C78	NM_020824.3	deleterious(0.03)		14/26		PROSITE_profiles:PS50003,hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175,Pfam_domain:PF15410,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	24600822	24600822	C	G	1	0	0	0	0	1	0	0	0	995	922	32	4		4	ARHGAP21	10	24600822	Missense_Mutation	SNP	C	C3N-00294_TP	18172493	24600822	109196600	716	14218											
MYO3A	0	.	GRCh38	chr10	26168791	26168791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagcttattttgattcaagCttgtgtcagagcattcttgt	9	17	8	7	0	3	2	2	1	1	1	3	2	3	2	0	0	3	3	0	0	3	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3191C>T	p.Ala1064Val	p.A1064V	ENST00000265944	28/35	170	142	28	279	279	0	strelka-varscan-mutect	MYO3A,missense_variant,p.Ala1064Val,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;MYO3A,non_coding_transcript_exon_variant,,ENST00000477691,;	T	ENST00000265944	Transcript	missense_variant	3357/5581	3191/4851	1064/1616	A/V	gCt/gTt		1		1	MYO3A	HGNC	HGNC:7601	protein_coding	YES	CCDS7148.1	ENSP00000265944	Q8NEV4		UPI000014140A	NM_017433.4	deleterious(0)		28/35		PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF387,SMART_domains:SM00015,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	26168791	26168791	C	T	1	0	0	0	0	1	0	0	0	10077	797	28	3		3	MYO3A	10	26168791	Missense_Mutation	SNP	C	C3N-00294_TP	1567969	26168791	107628631	717	14219											
WAC	0	.	GRCh38	chr10	28611909	28611909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcagtactcctcctgtttCatcacagccaaaggtatgtc	10	12	7	12	0	3	0	3	0	0	0	6	1	5	0	3	1	2	3	3	1	3	3			C3N-00294_TP	C3N-00294_NB	C	C																c.1424C>T	p.Ser475Leu	p.S475L	ENST00000354911	10/14	125	95	30	117	117	0	strelka-mutect	WAC,missense_variant,p.Ser430Leu,ENST00000375664,NM_100264.2;WAC,missense_variant,p.Ser475Leu,ENST00000354911,NM_016628.4;WAC,missense_variant,p.Ser372Leu,ENST00000347934,NM_100486.3;WAC,missense_variant,p.Ser323Leu,ENST00000375646,;WAC,3_prime_UTR_variant,,ENST00000628285,;WAC,downstream_gene_variant,,ENST00000428935,;WAC,3_prime_UTR_variant,,ENST00000439676,;WAC,non_coding_transcript_exon_variant,,ENST00000345541,;WAC,upstream_gene_variant,,ENST00000480474,;WAC,downstream_gene_variant,,ENST00000424454,;WAC,downstream_gene_variant,,ENST00000495268,;WAC,downstream_gene_variant,,ENST00000476046,;	T	ENST00000354911	Transcript	missense_variant	1585/3042	1424/1944	475/647	S/L	tCa/tTa	COSM32899	1		1	WAC	HGNC	HGNC:17327	protein_coding	YES	CCDS7159.1	ENSP00000346986	Q9BTA9		UPI000013D398	NM_016628.4	deleterious(0.02)		10/14		hmmpanther:PTHR15911,hmmpanther:PTHR15911:SF6											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	46	28611909	28611909	C	T	1	0	0	0	0	1	0	0	0	17807	838	29	3		3	WAC	10	28611909	Missense_Mutation	SNP	C	C3N-00294_TP	2443118	28611909	105185513	718	14220											
ZNF239	0	.	GRCh38	chr10	43557773	43557773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctttatcacttttctctCagtgctttcttccattacaa	7	18	2	14	0	4	0	2	0	2	0	6	0	5	0	3	0	2	1	3	0	3	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.307G>A	p.Glu103Lys	p.E103K	ENST00000306006	2/2	149	110	39	165	165	0	strelka-varscan-mutect	ZNF239,missense_variant,p.Glu103Lys,ENST00000306006,NM_005674.2;ZNF239,missense_variant,p.Glu103Lys,ENST00000374446,NM_001324351.1,NM_001324352.1,NM_001324349.1,NM_001099282.1;ZNF239,missense_variant,p.Glu103Lys,ENST00000426961,NM_001099284.1;ZNF239,missense_variant,p.Glu103Lys,ENST00000535642,NM_001099283.1;ZNF239,non_coding_transcript_exon_variant,,ENST00000491188,;	T	ENST00000306006	Transcript	missense_variant	960/2389	307/1377	103/458	E/K	Gag/Aag		1		-1	ZNF239	HGNC	HGNC:13031	protein_coding	YES	CCDS41502.1	ENSP00000307774	Q16600		UPI000006DD0E	NM_005674.2	tolerated(0.26)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	43557773	43557773	C	T	1	0	0	0	0	1	0	0	0	18367	835	29	3		3	ZNF239	10	43557773	Missense_Mutation	SNP	C	C3N-00294_TP	14945864	43557773	90239649	719	14221											
AGAP9	0	.	GRCh38	chr10	47520518	47520518	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatctgtttgagagttcctCtggaatattgtgcttgcctc	6	16	9	10	0	2	1	0	1	2	1	4	3	3	2	3	1	2	3	3	1	2	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.342G>C	p.Gln114His	p.Q114H	ENST00000452145	3/8	197	162	35	312	312	0	strelka-varscan-mutect	AGAP9,missense_variant,p.Gln114His,ENST00000452145,NM_001190810.1;RP11-144G6.12,non_coding_transcript_exon_variant,,ENST00000605970,;RP11-144G6.12,downstream_gene_variant,,ENST00000431840,;	G	ENST00000452145	Transcript	missense_variant	454/2387	342/1977	114/658	Q/H	caG/caC		1		-1	AGAP9	HGNC	HGNC:23463	protein_coding	YES	CCDS73125.1	ENSP00000392206	Q5VTM2		UPI000019733B	NM_001190810.1	tolerated_low_confidence(0.07)		3/8																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	47520518	47520518	C	G	1	0	0	0	0	1	0	0	0	450	912	32	4		4	AGAP9	10	47520518	Missense_Mutation	SNP	C	C3N-00294_TP	3962745	47520518	86276904	720	14222											
CCDC6	0	.	GRCh38	chr10	59812776	59812776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagcagagacgggctggtCtaatttttcctgcaggattc	8	12	13	8	1	1	1	0	0	1	1	3	4	2	3	1	4	2	3	1	4	1	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.706G>A	p.Asp236Asn	p.D236N	ENST00000263102	5/9	116	83	33	85	85	0	strelka-varscan-mutect	CCDC6,missense_variant,p.Asp236Asn,ENST00000263102,NM_005436.4;CCDC6,upstream_gene_variant,,ENST00000518638,;	T	ENST00000263102	Transcript	missense_variant	938/5811	706/1425	236/474	D/N	Gac/Aac		1		-1	CCDC6	HGNC	HGNC:18782	protein_coding	YES	CCDS7257.1	ENSP00000263102	Q16204		UPI000035B25A	NM_005436.4	tolerated(0.12)		5/9		hmmpanther:PTHR15276,hmmpanther:PTHR15276:SF0,Pfam_domain:PF09755																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	59812776	59812776	C	T	1	0	0	0	0	1	0	0	0	2532	913	32	3		3	CCDC6	10	59812776	Missense_Mutation	SNP	C	C3N-00294_TP	12292258	59812776	73984646	721	14223											
EGR2	0	.	GRCh38	chr10	62815903	62815903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcaaaggggcctcccagttCggcattgggaaagatggtca	10	8	14	9	1	2	1	2	0	0	1	4	2	3	2	2	5	0	2	2	5	2	2			C3N-00294_TP	C3N-00294_NB	C	C																c.127G>A	p.Glu43Lys	p.E43K	ENST00000242480	1/2	279	209	70	256	256	0	strelka-varscan-mutect	EGR2,missense_variant,p.Glu43Lys,ENST00000242480,NM_001136177.1,NM_000399.3;EGR2,missense_variant,p.Glu43Lys,ENST00000439032,NM_001136178.1;EGR2,missense_variant,p.Glu43Lys,ENST00000637191,;EGR2,5_prime_UTR_variant,,ENST00000411732,NM_001136179.1;EGR2,non_coding_transcript_exon_variant,,ENST00000493899,;	T	ENST00000242480	Transcript	missense_variant	453/2968	127/1431	43/476	E/K	Gaa/Aaa	COSM1297346	1		-1	EGR2	HGNC	HGNC:3239	protein_coding	YES	CCDS7267.1	ENSP00000242480	P11161		UPI000013CB07	NM_001136177.1,NM_000399.3	deleterious(0.04)		1/2													1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	46	62815903	62815903	C	T	1	0	0	0	0	1	0	0	0	4808	893	31	1		1	EGR2	10	62815903	Missense_Mutation	SNP	C	C3N-00294_TP	3003127	62815903	70981519	722	14224											
ECD	0	.	GRCh38	chr10	73163931	73163931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtagcaagcttcatggtttCttccattcttctttgaaaac	9	16	6	10	1	4	1	1	1	3	0	5	1	5	1	1	1	3	4	1	1	4	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.7G>C	p.Glu3Gln	p.E3Q	ENST00000430082	2/15	125	102	23	116	116	0	varscan-mutect	ECD,missense_variant,p.Glu3Gln,ENST00000372979,NM_007265.2;ECD,missense_variant,p.Glu3Gln,ENST00000430082,NM_001135752.1;ECD,missense_variant,p.Glu3Gln,ENST00000454759,NM_001135753.1;ECD,missense_variant,p.Glu3Gln,ENST00000413026,;ECD,intron_variant,,ENST00000453402,;FAM149B1,upstream_gene_variant,,ENST00000242505,NM_173348.1;ECD,non_coding_transcript_exon_variant,,ENST00000610256,;ECD,intron_variant,,ENST00000484976,;	G	ENST00000430082	Transcript	missense_variant	219/2246	7/2034	3/677	E/Q	Gaa/Caa		1		-1	ECD	HGNC	HGNC:17029	protein_coding	YES	CCDS44434.1	ENSP00000401566	O95905		UPI000181CB29	NM_001135752.1	tolerated(0.45)		2/15		hmmpanther:PTHR13060																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	73163931	73163931	C	G	1	0	0	0	0	1	0	0	0	4714	922	32	4		4	ECD	10	73163931	Missense_Mutation	SNP	C	C3N-00294_TP	10348028	73163931	60633491	723	14225											
FUT11	0	.	GRCh38	chr10	73773457	73773457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actccgtcatcctgattgatGattttgagtctcctcagaag	9	14	8	10	1	3	5	2	4	1	1	6	5	5	5	3	0	0	0	3	0	1	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.976G>A	p.Asp326Asn	p.D326N	ENST00000372841	2/3	305	246	59	287	287	0	strelka-varscan-mutect	FUT11,missense_variant,p.Asp326Asn,ENST00000394790,NM_001284194.1;FUT11,missense_variant,p.Asp326Asn,ENST00000372841,NM_173540.2;SEC24C,downstream_gene_variant,,ENST00000339365,NM_004922.3;SEC24C,downstream_gene_variant,,ENST00000345254,NM_198597.2;FUT11,non_coding_transcript_exon_variant,,ENST00000465695,;RP11-574K11.32,upstream_gene_variant,,ENST00000623453,;FUT11,upstream_gene_variant,,ENST00000489264,;SEC24C,downstream_gene_variant,,ENST00000496827,;SEC24C,downstream_gene_variant,,ENST00000465076,;SEC24C,downstream_gene_variant,,ENST00000635550,;	A	ENST00000372841	Transcript	missense_variant	1019/2056	976/1479	326/492	D/N	Gat/Aat		1		1	FUT11	HGNC	HGNC:19233	protein_coding	YES	CCDS7333.1	ENSP00000361932	Q495W5		UPI00000474D6	NM_173540.2	deleterious(0.02)		2/3		Pfam_domain:PF00852,PIRSF_domain:PIRSF037332,hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF156,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		rs1242167985	.												A	3	1	46	73773457	73773457	G	A	1	0	0	0	0	1	0	0	0	5975	1290	45	3		3	FUT11	10	73773457	Missense_Mutation	SNP	G	C3N-00294_TP	609526	73773457	60023965	724	14226											
CAMK2G	0	.	GRCh38	chr10	73847297	73847297	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttatggtcagcatctggttGatcaagttcttggcttcagg	7	16	11	7	0	5	1	3	1	2	0	5	1	5	1	0	4	1	4	0	4	2	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.747C>T	p.=	p.I249I	ENST00000322680	10/21	208	182	26	219	219	0	strelka-varscan-mutect	CAMK2G,synonymous_variant,p.=,ENST00000423381,;CAMK2G,synonymous_variant,p.=,ENST00000322680,NM_172171.2;CAMK2G,synonymous_variant,p.=,ENST00000394762,NM_172170.4,NM_001204492.1;CAMK2G,synonymous_variant,p.=,ENST00000322635,NM_172169.2;CAMK2G,synonymous_variant,p.=,ENST00000351293,NM_001222.3,NM_172173.2;CAMK2G,synonymous_variant,p.=,ENST00000372765,;CAMK2G,synonymous_variant,p.=,ENST00000305762,;CAMK2G,synonymous_variant,p.=,ENST00000433289,;CAMK2G,synonymous_variant,p.=,ENST00000441192,;RP11-574K11.8,downstream_gene_variant,,ENST00000446730,;CAMK2G,non_coding_transcript_exon_variant,,ENST00000472912,;CAMK2G,non_coding_transcript_exon_variant,,ENST00000492020,;CAMK2G,non_coding_transcript_exon_variant,,ENST00000477652,;	A	ENST00000322680	Transcript	synonymous_variant	877/3818	747/1671	249/556	I	atC/atT		1		-1	CAMK2G	HGNC	HGNC:1463	protein_coding	YES	CCDS7338.1	ENSP00000319060	Q13555		UPI000016781F	NM_172171.2			10/21		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF110,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW		SNV	5			1										PASS		.	.												A	2	1	46	73847297	73847297	G	A	1	0	0	0	0	0	0	0	1	2293	1280	45	3		3	CAMK2G	10	73847297	Silent	SNP	G	C3N-00294_TP	73840	73847297	59950125	725	14227											
KAT6B	0	.	GRCh38	chr10	74976166	74976166	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctagctgggggatggctaGaggaagtatttttaaagcaa	12	11	13	5	0	1	1	0	0	1	1	1	3	1	3	0	4	2	4	0	4	7	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1829G>C	p.Arg610Thr	p.R610T	ENST00000287239	8/18	294	224	70	270	270	0	strelka-varscan-mutect	KAT6B,missense_variant,p.Arg610Thr,ENST00000287239,NM_012330.3;KAT6B,intron_variant,,ENST00000372711,NM_001256468.1;KAT6B,intron_variant,,ENST00000372724,NM_001256469.1;KAT6B,intron_variant,,ENST00000372725,;KAT6B,intron_variant,,ENST00000372714,;KAT6B,upstream_gene_variant,,ENST00000490365,;	C	ENST00000287239	Transcript	missense_variant	2318/8287	1829/6222	610/2073	R/T	aGa/aCa		1		1	KAT6B	HGNC	HGNC:17582	protein_coding	YES	CCDS7345.1	ENSP00000287239	Q8WYB5		UPI000013DEA0	NM_012330.3	tolerated_low_confidence(0.11)		8/18																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	74976166	74976166	G	C	1	0	0	0	0	1	0	0	0	7899	942	33	4		4	KAT6B	10	74976166	Missense_Mutation	SNP	G	C3N-00294_TP	1128869	74976166	58821256	726	14228											
C10orf11	0	.	GRCh38	chr10	76036066	76036066	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactcatcttggacaacaatCagctgggggacgaccttgtg	11	9	11	10	1	3	0	2	0	1	0	3	3	3	2	1	3	3	1	1	3	3	2			C3N-00294_TP	C3N-00294_NB	C	C																c.190C>T	p.Gln64Ter	p.Q64*	ENST00000611255	3/7	165	145	20	217	217	0	strelka-varscan-mutect	C10orf11,stop_gained,p.Gln64Ter,ENST00000611255,NM_001305581.1;C10orf11,stop_gained,p.Gln36Ter,ENST00000372499,NM_032024.3;C10orf11,stop_gained,p.Gln21Ter,ENST00000611306,;C10orf11,non_coding_transcript_exon_variant,,ENST00000593699,;C10orf11,non_coding_transcript_exon_variant,,ENST00000593817,;	T	ENST00000611255	Transcript	stop_gained	462/1040	190/681	64/226	Q/*	Cag/Tag	COSM5201668	1		1	C10orf11	HGNC	HGNC:23405	protein_coding	YES	CCDS76319.1	ENSP00000480240		A0A087WWI0	UPI00001A5016	NM_001305581.1			3/7		Gene3D:3.80.10.10,Pfam_domain:PF14580,PROSITE_profiles:PS51450,hmmpanther:PTHR10552,hmmpanther:PTHR10552:SF16,Superfamily_domains:SSF52058											1						HIGH	1	SNV	5		1	1										PASS		.	.												T	4	4	46	76036066	76036066	C	T	1	0	0	0	0	0	1	0	0	1758	827	29	3		3	C10orf11	10	76036066	Nonsense_Mutation	SNP	C	C3N-00294_TP	1059900	76036066	57761356	727	14229											
POLR3A	0	.	GRCh38	chr10	78017580	78017580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagtgctactcaccagatGagccataatgctcaatttgt	12	11	8	10	0	2	2	2	1	0	1	2	2	2	2	2	0	5	3	2	0	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1426C>T	p.His476Tyr	p.H476Y	ENST00000372371	10/31	214	176	38	220	220	0	strelka-varscan-mutect	POLR3A,missense_variant,p.His476Tyr,ENST00000372371,NM_007055.3;POLR3A,non_coding_transcript_exon_variant,,ENST00000484760,;POLR3A,missense_variant,p.His77Tyr,ENST00000473588,;	A	ENST00000372371	Transcript	missense_variant	1564/6640	1426/4173	476/1390	H/Y	Cat/Tat		1		-1	POLR3A	HGNC	HGNC:30074	protein_coding	YES	CCDS7354.1	ENSP00000361446	O14802		UPI000007456A	NM_007055.3	deleterious(0)		10/31		hmmpanther:PTHR19376:SF32,hmmpanther:PTHR19376,Pfam_domain:PF00623,Gene3D:2.40.40.20,SMART_domains:SM00663,Superfamily_domains:SSF64484																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	78017580	78017580	G	A	1	0	0	0	0	1	0	0	0	12339	1304	45	3		3	POLR3A	10	78017580	Missense_Mutation	SNP	G	C3N-00294_TP	1981514	78017580	55779842	728	14230											
FAM35A	0	.	GRCh38	chr10	87187114	87187114	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgactgccattgatggaaGacatgatgtttgtatccgtg	11	13	11	6	1	0	4	0	3	0	1	1	5	1	5	2	1	1	2	2	1	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2222G>C	p.Arg741Thr	p.R741T	ENST00000298784	8/9	140	115	25	176	176	0	strelka-varscan-mutect	FAM35A,missense_variant,p.Arg810Thr,ENST00000298786,;FAM35A,missense_variant,p.Arg741Thr,ENST00000298784,NM_019054.2;	C	ENST00000298784	Transcript	missense_variant	2336/3402	2222/2508	741/835	R/T	aGa/aCa		1		1	FAM35A	HGNC	HGNC:28773	protein_coding	YES	CCDS7383.1	ENSP00000298784	Q86V20		UPI000013E51A	NM_019054.2	tolerated(0.57)		8/9		hmmpanther:PTHR14495,hmmpanther:PTHR14495:SF2,Pfam_domain:PF15793																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	46	87187114	87187114	G	C	1	0	0	0	0	1	0	0	0	5435	942	33	4		4	FAM35A	10	87187114	Missense_Mutation	SNP	G	C3N-00294_TP	9169534	87187114	46610308	729	14231											
HECTD2	0	.	GRCh38	chr10	91478259	91478259	+	Frame_Shift_Del	DEL	G	G	-																															taacagcctgttacgagaatGgaaagggtaaactaatattt																								novel		C3N-00294_TP	C3N-00294_NB	G	G																c.660delG	p.Trp220Ter	p.W220*	ENST00000446394	6/22	59	50	9	109	109	0	sindel-varindel-pindel	HECTD2,frameshift_variant,p.Trp220Ter,ENST00000446394,NM_001284274.1;HECTD2,frameshift_variant,p.Trp220Ter,ENST00000298068,NM_182765.4;	-	ENST00000446394	Transcript	frameshift_variant	813/4939	659/2343	220/780	W/X	tGg/tg		1		1	HECTD2	HGNC	HGNC:26736	protein_coding	YES	CCDS60591.1	ENSP00000401023		E7ERR3	UPI0001AE6DAB	NM_001284274.1			6/22		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF301																	HIGH	1	deletion	2	1		1										PASS		.	.												-	7	5	46	91478259	91478259	G	-	1	0	1	0	1	0	0	0	0	6921	1357	47	0		0	HECTD2	10	91478259	Frame_Shift_Del	DEL	G	C3N-00294_TP	4291145	91478259	42319163	730	14232											
CYP26C1	0	.	GRCh38	chr10	93064432	93064432	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctggagggggccatttctGagaagcttcacgaggacaag	11	7	14	9	1	2	1	1	1	1	1	2	5	2	3	2	4	1	1	2	4	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.757G>C	p.Glu253Gln	p.E253Q	ENST00000285949	4/6	120	87	33	116	116	0	strelka-mutect	CYP26C1,missense_variant,p.Glu253Gln,ENST00000285949,NM_183374.2;EXOC6,downstream_gene_variant,,ENST00000260762,NM_001319195.1,NM_019053.4;EXOC6,downstream_gene_variant,,ENST00000371552,NM_001319194.1,NM_001013848.2;EXOC6,downstream_gene_variant,,ENST00000443748,NM_001319200.1;RP11-348J12.2,upstream_gene_variant,,ENST00000444965,;CYP26C1,intron_variant,,ENST00000624358,;	C	ENST00000285949	Transcript	missense_variant	757/1569	757/1569	253/522	E/Q	Gag/Cag		1		1	CYP26C1	HGNC	HGNC:20577	protein_coding	YES	CCDS7425.1	ENSP00000285949	Q6V0L0		UPI00002289F0	NM_183374.2	tolerated(0.08)		4/6		hmmpanther:PTHR24286,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	93064432	93064432	G	C	1	0	0	0	0	1	0	0	0	3960	1291	45	4		4	CYP26C1	10	93064432	Missense_Mutation	SNP	G	C3N-00294_TP	1586173	93064432	40732990	731	14233											
PLCE1	0	.	GRCh38	chr10	94132285	94132285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atggaaggataagcgttggtCcatgcttaaagcaatgtgtc	12	11	12	6	1	0	0	0	0	0	0	2	2	1	2	1	3	3	3	1	3	5	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1318C>G	p.Pro440Ala	p.P440A	ENST00000371380	2/32	329	251	78	349	349	0	strelka-varscan-mutect	PLCE1,missense_variant,p.Pro440Ala,ENST00000371380,NM_016341.3,NM_001288989.1;PLCE1,missense_variant,p.Pro132Ala,ENST00000371375,;PLCE1,missense_variant,p.Pro132Ala,ENST00000371385,NM_001165979.2;	G	ENST00000371380	Transcript	missense_variant	1553/12024	1318/6909	440/2302	P/A	Cca/Gca		1		1	PLCE1	HGNC	HGNC:17175	protein_coding	YES	CCDS41552.1	ENSP00000360431	Q9P212		UPI00001F93EE	NM_016341.3,NM_001288989.1	tolerated_low_confidence(0.23)		2/32		Superfamily_domains:0041591																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	94132285	94132285	C	G	1	0	0	0	0	1	0	0	0	12128	855	30	4		4	PLCE1	10	94132285	Missense_Mutation	SNP	C	C3N-00294_TP	1067853	94132285	39665137	732	14234											
HELLS	0	.	GRCh38	chr10	94574643	94574643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctactattgcattgatGattcagagaggagtaccagg	12	12	11	6	0	1	3	1	2	0	1	1	5	1	4	1	2	4	3	1	2	3	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.795G>T	p.Met265Ile	p.M265I	ENST00000394036	9/23	200	169	31	236	236	0	strelka-varscan-mutect	HELLS,missense_variant,p.Met265Ile,ENST00000394036,NM_001289067.1;HELLS,missense_variant,p.Met265Ile,ENST00000348459,NM_001289069.1,NM_001289068.1,NM_001289074.1,NM_018063.4,NM_001289075.1;HELLS,missense_variant,p.Met141Ile,ENST00000239026,NM_001289071.1;HELLS,missense_variant,p.Met265Ile,ENST00000394045,NM_001289070.1,NM_001289072.1;HELLS,missense_variant,p.Met127Ile,ENST00000371332,NM_001289073.1;HELLS,downstream_gene_variant,,ENST00000419900,;RP11-119K6.6,upstream_gene_variant,,ENST00000432120,;HELLS,downstream_gene_variant,,ENST00000462057,;HELLS,downstream_gene_variant,,ENST00000466552,;	T	ENST00000394036	Transcript	missense_variant	795/3131	795/2655	265/884	M/I	atG/atT		1		1	HELLS	HGNC	HGNC:4861	protein_coding	YES	CCDS73162.1	ENSP00000377601		A0A0B4J1V9	UPI000023B7CF	NM_001289067.1	deleterious(0.03)		9/23		PROSITE_profiles:PS51192,hmmpanther:PTHR10799,Pfam_domain:PF00176,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	94574643	94574643	G	T	1	0	0	0	0	1	0	0	0	6928	1290	45	2		2	HELLS	10	94574643	Missense_Mutation	SNP	G	C3N-00294_TP	442358	94574643	39222779	733	14235											
CHUK	0	.	GRCh38	chr10	100222913	100222913	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccattgctagaagaggcaCatcatgaatcaaaatattca	16	11	6	8	0	3	3	3	1	0	2	4	3	4	3	1	1	1	2	1	1	6	5	rs775967798		C3N-00294_TP	C3N-00294_NB	C	C																c.268G>T	p.Val90Leu	p.V90L	ENST00000370397	3/21	230	138	92	342	342	0	strelka-varscan-mutect	CHUK,missense_variant,p.Val90Leu,ENST00000370397,NM_001320928.1,NM_001278.3;	A	ENST00000370397	Transcript	missense_variant	355/3625	268/2238	90/745	V/L	Gtg/Ttg	rs775967798,COSM3849485	1		-1	CHUK	HGNC	HGNC:1974	protein_coding	YES	CCDS7488.1	ENSP00000359424	O15111		UPI000013D6C7	NM_001320928.1,NM_001278.3	tolerated(1)		3/21		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF13,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs775967798	.												A	3	1	46	100222913	100222913	C	A	1	0	0	0	0	1	0	0	0	3177	478	17	2		2	CHUK	10	100222913	Missense_Mutation	SNP	C	C3N-00294_TP	5648270	100222913	33574509	734	14236											
CWF19L1	0	.	GRCh38	chr10	100256307	100256307	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacttgggccatggggatgtGagcaagatatcaacaccctt	11	9	11	10	0	1	2	1	1	0	1	1	3	1	3	2	3	2	1	2	3	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.459C>T	p.=	p.L153L	ENST00000354105	5/14	299	231	68	278	278	0	strelka-varscan-mutect	CWF19L1,synonymous_variant,p.=,ENST00000354105,NM_018294.5,NM_001303405.1,NM_001303404.1;RNU6-422P,upstream_gene_variant,,ENST00000384632,;CWF19L1,non_coding_transcript_exon_variant,,ENST00000496796,;CWF19L1,non_coding_transcript_exon_variant,,ENST00000473842,;CWF19L1,intron_variant,,ENST00000468709,;CWF19L1,intron_variant,,ENST00000482452,;CWF19L1,intron_variant,,ENST00000466955,;CWF19L1,upstream_gene_variant,,ENST00000478047,;	A	ENST00000354105	Transcript	synonymous_variant	546/2633	459/1617	153/538	L	ctC/ctT		1		-1	CWF19L1	HGNC	HGNC:25613	protein_coding	YES	CCDS7489.1	ENSP00000326411	Q69YN2	A0A0S2Z5E9	UPI0000070B3E	NM_018294.5,NM_001303405.1,NM_001303404.1			5/14		hmmpanther:PTHR12072,hmmpanther:PTHR12072:SF4																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	46	100256307	100256307	G	A	1	0	0	0	0	0	0	0	1	3881	1277	45	3		3	CWF19L1	10	100256307	Silent	SNP	G	C3N-00294_TP	33394	100256307	33541115	735	14237											
SFXN3	0	.	GRCh38	chr10	101034778	101034778	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagagcccggcactttttCactgttactgatcctcgaaa	9	11	9	12	2	1	2	1	1	0	1	3	3	2	2	2	2	2	3	2	2	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.96C>T	p.=	p.F32F	ENST00000224807	3/12	187	163	24	209	209	0	strelka-varscan-mutect	SFXN3,synonymous_variant,p.=,ENST00000393459,;SFXN3,synonymous_variant,p.=,ENST00000224807,NM_030971.3;PDZD7,upstream_gene_variant,,ENST00000619208,NM_001195263.1;PDZD7,upstream_gene_variant,,ENST00000370215,NM_024895.4;PDZD7,upstream_gene_variant,,ENST00000470414,;SFXN3,upstream_gene_variant,,ENST00000466982,;SFXN3,upstream_gene_variant,,ENST00000470252,;SFXN3,upstream_gene_variant,,ENST00000487721,;SFXN3,upstream_gene_variant,,ENST00000465383,;SFXN3,synonymous_variant,p.=,ENST00000489434,;PDZD7,upstream_gene_variant,,ENST00000474125,;PDZD7,upstream_gene_variant,,ENST00000476306,;	T	ENST00000224807	Transcript	synonymous_variant	552/3089	96/978	32/325	F	ttC/ttT		1		1	SFXN3	HGNC	HGNC:16087	protein_coding	YES	CCDS7508.2	ENSP00000224807	Q9BWM7		UPI000006EE3D	NM_030971.3			3/12		Pfam_domain:PF03820,hmmpanther:PTHR11153,hmmpanther:PTHR11153:SF20,TIGRFAM_domain:TIGR00798																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	46	101034778	101034778	C	T	1	0	0	0	0	0	0	0	1	14456	825	29	3		3	SFXN3	10	101034778	Silent	SNP	C	C3N-00294_TP	778471	101034778	32762644	736	14238											
GBF1	0	.	GRCh38	chr10	102380588	102380588	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccacagtgcagatgcacgggGaggcggcccctcggccctct	6	5	14	16	3	1	1	0	0	1	1	2	2	1	2	4	5	2	2	4	5	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.5072G>C	p.Gly1691Ala	p.G1691A	ENST00000369983	38/40	123	107	16	150	150	0	strelka-varscan-mutect	GBF1,missense_variant,p.Gly1691Ala,ENST00000369983,NM_001199379.1,NM_001199378.1,NM_004193.2;	C	ENST00000369983	Transcript	missense_variant	5332/6403	5072/5580	1691/1859	G/A	gGa/gCa		1		1	GBF1	HGNC	HGNC:4181	protein_coding	YES	CCDS7533.1	ENSP00000359000	Q92538		UPI000012B228	NM_001199379.1,NM_001199378.1,NM_004193.2	tolerated(0.81)		38/40																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	102380588	102380588	G	C	1	0	0	0	0	1	0	0	0	6142	1174	41	4		4	GBF1	10	102380588	Missense_Mutation	SNP	G	C3N-00294_TP	1345810	102380588	31416834	737	14239											
PDCD11	0	.	GRCh38	chr10	103445541	103445541	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggccaagagctcagtgctaGaggactagtggcaggctggc	10	6	16	9	0	1	2	1	0	0	2	1	3	1	3	1	5	2	4	1	5	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.5608G>C	p.Glu1870Gln	p.E1870Q	ENST00000369797	36/36	124	101	23	107	107	0	strelka-varscan-mutect	PDCD11,missense_variant,p.Glu1870Gln,ENST00000369797,NM_014976.1;CALHM2,downstream_gene_variant,,ENST00000260743,NM_015916.4;CALHM2,downstream_gene_variant,,ENST00000369788,;RP11-225H22.7,upstream_gene_variant,,ENST00000608063,;CALHM2,downstream_gene_variant,,ENST00000494180,;CALHM2,downstream_gene_variant,,ENST00000461631,;CALHM2,downstream_gene_variant,,ENST00000480642,;CALHM2,downstream_gene_variant,,ENST00000474797,;CALHM2,downstream_gene_variant,,ENST00000463878,;PDCD11,non_coding_transcript_exon_variant,,ENST00000478543,;	C	ENST00000369797	Transcript	missense_variant	5702/6453	5608/5616	1870/1871	E/Q	Gag/Cag		1		1	PDCD11	HGNC	HGNC:13408	protein_coding	YES	CCDS31276.1	ENSP00000358812	Q14690		UPI00001C1ED1	NM_014976.1	deleterious(0.01)		36/36		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF10																	MODERATE	1	SNV	1			1										PASS		rs1415984668	.												C	3	2	46	103445541	103445541	G	C	1	0	0	0	0	1	0	0	0	11705	943	33	4		4	PDCD11	10	103445541	Missense_Mutation	SNP	G	C3N-00294_TP	1064953	103445541	30351881	738	14240											
NEURL1	0	.	GRCh38	chr10	103584920	103584920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcgtcaaggtcacgcgctCgggtggcgcgcggcccggcg	3	6	17	15	9	2	0	2	0	0	0	4	0	2	0	1	5	0	1	1	5	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1034C>T	p.Ser345Leu	p.S345L	ENST00000369780	4/6	91	68	23	91	91	0	strelka-varscan-mutect	NEURL1,missense_variant,p.Ser345Leu,ENST00000369780,NM_004210.4;	T	ENST00000369780	Transcript	missense_variant	1443/4314	1034/1725	345/574	S/L	tCg/tTg		1		1	NEURL1	HGNC	HGNC:7761	protein_coding	YES	CCDS7551.1	ENSP00000358795	O76050		UPI0000073F46	NM_004210.4	tolerated(0.6)		4/6		Pfam_domain:PF07177,PROSITE_profiles:PS51065,hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF13,SMART_domains:SM00588																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	103584920	103584920	C	T	1	0	0	0	0	1	0	0	0	10380	893	31	1		1	NEURL1	10	103584920	Missense_Mutation	SNP	C	C3N-00294_TP	139379	103584920	30212502	739	14241											
CFAP43	0	.	GRCh38	chr10	104187458	104187458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatgaatgatttcatctttCagccttcctctttcatcagc	8	18	4	11	0	6	2	4	2	2	0	7	2	7	2	2	0	2	0	2	0	2	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1722G>A	p.=	p.L574L	ENST00000357060	14/38	106	88	18	115	115	0	strelka-mutect	CFAP43,synonymous_variant,p.=,ENST00000357060,NM_025145.5;CFAP43,synonymous_variant,p.=,ENST00000278064,;CFAP43,upstream_gene_variant,,ENST00000434629,;	T	ENST00000357060	Transcript	synonymous_variant	1838/5365	1722/4998	574/1665	L	ctG/ctA		1		-1	CFAP43	HGNC	HGNC:26684	protein_coding	YES	CCDS31281.1	ENSP00000349568	Q8NDM7		UPI0000D60FC7	NM_025145.5			14/38		hmmpanther:PTHR14885,hmmpanther:PTHR14885:SF1																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	104187458	104187458	C	T	1	0	0	0	0	0	0	0	1	3018	813	29	3		3	CFAP43	10	104187458	Silent	SNP	C	C3N-00294_TP	602538	104187458	29609964	740	14242											
ITPRIP	0	.	GRCh38	chr10	104315802	104315802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagaggtcccaggccaCgcgtgtctcgttctgctgcc	4	9	12	16	3	2	1	0	0	2	1	5	1	4	1	4	2	2	3	4	2	0	1	rs751175958		C3N-00294_TP	C3N-00294_NB	C	C																c.250G>A	p.Val84Met	p.V84M	ENST00000278071	3/3	169	121	48	161	161	0	strelka-varscan-mutect	ITPRIP,missense_variant,p.Val84Met,ENST00000278071,NM_033397.3;ITPRIP,missense_variant,p.Val84Met,ENST00000337478,NM_001272013.1;ITPRIP,missense_variant,p.Val84Met,ENST00000358187,NM_001272012.1;ITPRIP,missense_variant,p.Val84Met,ENST00000458723,;RP11-127L20.5,downstream_gene_variant,,ENST00000472915,;	T	ENST00000278071	Transcript	missense_variant	703/6807	250/1644	84/547	V/M	Gtg/Atg	rs751175958,COSM1255118	1		-1	ITPRIP	HGNC	HGNC:29370	protein_coding	YES	CCDS7557.1	ENSP00000278071	Q8IWB1		UPI0000074521	NM_033397.3	tolerated(0.21)		3/3		hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF8											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs751175958	.												T	3	4	46	104315802	104315802	C	T	1	0	0	0	0	1	0	0	0	7829	536	19	1		1	ITPRIP	10	104315802	Missense_Mutation	SNP	C	C3N-00294_TP	128344	104315802	29481620	741	14243											
SORCS3	0	.	GRCh38	chr10	105255726	105255726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaaacactgtttaatgctCtcaaccaaaatttggtccag	14	12	6	9	0	1	1	1	0	1	1	3	1	2	1	2	1	3	2	2	1	6	4			C3N-00294_TP	C3N-00294_NB	C	C																c.3262C>T	p.Leu1088Phe	p.L1088F	ENST00000369701	24/27	119	101	18	118	118	0	strelka-varscan-mutect	SORCS3,missense_variant,p.Leu1088Phe,ENST00000369701,NM_014978.2;SORCS3,missense_variant,p.Leu1088Phe,ENST00000369699,;	T	ENST00000369701	Transcript	missense_variant	3489/5757	3262/3669	1088/1222	L/F	Ctc/Ttc	COSM5477082	1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2	deleterious(0.04)		24/27		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10											1						MODERATE	1	SNV	1		1	1										PASS		rs1379690915	.												T	3	4	46	105255726	105255726	C	T	1	0	0	0	0	1	0	0	0	15254	913	32	3		3	SORCS3	10	105255726	Missense_Mutation	SNP	C	C3N-00294_TP	939924	105255726	28541696	742	14244											
SMC3	0	.	GRCh38	chr10	110577436	110577436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaggaaggtactggtcctCgtgttatttctgcttttgtg	5	19	11	6	1	1	0	0	0	1	0	3	1	2	1	1	3	2	3	1	3	4	7			C3N-00294_TP	C3N-00294_NB	C	C																c.214C>T	p.Arg72Cys	p.R72C	ENST00000361804	5/29	120	101	19	246	246	0	strelka-varscan-mutect	SMC3,missense_variant,p.Arg72Cys,ENST00000361804,NM_005445.3;SMC3,non_coding_transcript_exon_variant,,ENST00000462899,;	T	ENST00000361804	Transcript	missense_variant	340/4114	214/3654	72/1217	R/C	Cgt/Tgt	COSM1504531	1		1	SMC3	HGNC	HGNC:2468	protein_coding	YES	CCDS31285.1	ENSP00000354720	Q9UQE7		UPI0000135A8D	NM_005445.3	deleterious(0)		5/29		Gene3D:3.40.50.300,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF8,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	46	110577436	110577436	C	T	1	0	0	0	0	1	0	0	0	15077	884	31	1		1	SMC3	10	110577436	Missense_Mutation	SNP	C	C3N-00294_TP	5321710	110577436	23219986	743	14245											
TCF7L2	0	.	GRCh38	chr10	112951228	112951228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaaagacggcctccgcctCgctccgaaagtttccgagac	9	6	11	15	6	0	2	0	0	0	2	4	5	3	3	5	2	0	2	5	2	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.211C>T	p.Arg71Cys	p.R71C	ENST00000627217	2/14	144	115	29	104	104	0	strelka-varscan-mutect	TCF7L2,missense_variant,p.Arg71Cys,ENST00000355995,;TCF7L2,missense_variant,p.Arg71Cys,ENST00000543371,;TCF7L2,missense_variant,p.Arg71Cys,ENST00000538897,NM_001198529.1,NM_001146284.1,NM_001198531.1;TCF7L2,missense_variant,p.Arg71Cys,ENST00000536810,NM_001146285.1;TCF7L2,missense_variant,p.Arg71Cys,ENST00000369397,NM_030756.4;TCF7L2,missense_variant,p.Arg71Cys,ENST00000534894,NM_001198530.1;TCF7L2,missense_variant,p.Arg71Cys,ENST00000627217,NM_001146274.1;TCF7L2,missense_variant,p.Arg71Cys,ENST00000545257,NM_001198525.1;TCF7L2,missense_variant,p.Arg71Cys,ENST00000355717,NM_001146286.1,NM_001146283.1;TCF7L2,missense_variant,p.Arg71Cys,ENST00000629706,NM_001198526.1;TCF7L2,missense_variant,p.Arg71Cys,ENST00000352065,NM_001198528.1;TCF7L2,missense_variant,p.Arg71Cys,ENST00000369395,NM_001198527.1;TCF7L2,missense_variant,p.Arg18Cys,ENST00000346198,;TCF7L2,5_prime_UTR_variant,,ENST00000542695,;RP11-57H14.2,intron_variant,,ENST00000369391,;	T	ENST00000627217	Transcript	missense_variant	561/3680	211/1809	71/602	R/C	Cgc/Tgc		1		1	TCF7L2	HGNC	HGNC:11641	protein_coding	YES	CCDS53577.1	ENSP00000486891	Q9NQB0		UPI000002B4A6	NM_001146274.1	deleterious(0.04)		2/14		Low_complexity_(Seg):seg,hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF32,Pfam_domain:PF08347																	MODERATE	1	SNV	1			1										PASS		rs1351120699	.												T	3	4	46	112951228	112951228	C	T	1	0	0	0	0	1	0	0	0	16105	884	31	1		1	TCF7L2	10	112951228	Missense_Mutation	SNP	C	C3N-00294_TP	2373792	112951228	20846194	744	14246											
NHLRC2	0	.	GRCh38	chr10	113854996	113854996	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcctggtctaccagtatCtgcagaaggtggacggctgg	9	8	14	10	1	2	1	0	0	2	1	2	2	2	2	2	5	3	3	2	5	3	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.124C>G	p.Leu42Val	p.L42V	ENST00000369301	1/11	338	268	70	367	367	0	strelka-varscan-mutect	NHLRC2,missense_variant,p.Leu42Val,ENST00000369301,NM_198514.3;DCLRE1A,upstream_gene_variant,,ENST00000361384,NM_014881.4;DCLRE1A,upstream_gene_variant,,ENST00000369305,NM_001271816.1;DCLRE1A,upstream_gene_variant,,ENST00000476112,;NHLRC2,non_coding_transcript_exon_variant,,ENST00000468890,;	G	ENST00000369301	Transcript	missense_variant	336/11051	124/2181	42/726	L/V	Ctg/Gtg		1		1	NHLRC2	HGNC	HGNC:24731	protein_coding	YES	CCDS7585.1	ENSP00000358307	Q8NBF2		UPI0000071EAF	NM_198514.3	tolerated(0.06)		1/11		hmmpanther:PTHR13833,hmmpanther:PTHR13833:SF49																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	46	113854996	113854996	C	G	1	0	0	0	0	1	0	0	0	10439	912	32	4		4	NHLRC2	10	113854996	Missense_Mutation	SNP	C	C3N-00294_TP	903768	113854996	19942426	745	14247											
ATRNL1	0	.	GRCh38	chr10	115171269	115171269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatatatggttatacaaGcagcatacaggaataccata	17	10	7	7	0	0	0	0	0	0	0	0	1	0	1	1	2	6	4	1	2	10	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1325G>A	p.Ser442Asn	p.S442N	ENST00000355044	8/29	124	100	24	135	135	0	strelka-varscan-mutect	ATRNL1,missense_variant,p.Ser442Asn,ENST00000355044,NM_207303.4;ATRNL1,missense_variant,p.Ser442Asn,ENST00000609571,NM_001276282.3;ATRNL1,3_prime_UTR_variant,,ENST00000527407,;ATRNL1,non_coding_transcript_exon_variant,,ENST00000524503,;ATRNL1,3_prime_UTR_variant,,ENST00000616894,;	A	ENST00000355044	Transcript	missense_variant	1451/8479	1325/4140	442/1379	S/N	aGc/aAc		1		1	ATRNL1	HGNC	HGNC:29063	protein_coding	YES	CCDS7592.1	ENSP00000347152	Q5VV63		UPI000021CCF8	NM_207303.4	tolerated(0.48)		8/29		hmmpanther:PTHR10574:SF224,hmmpanther:PTHR10574,Gene3D:1zgkA00,Superfamily_domains:0052715																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	115171269	115171269	G	A	1	0	0	0	0	1	0	0	0	1360	971	34	3		3	ATRNL1	10	115171269	Missense_Mutation	SNP	G	C3N-00294_TP	1316273	115171269	18626153	746	14248											
HSPA12A	0	.	GRCh38	chr10	116707210	116707210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacttcttaccacaatatggGagggggacagaggcgttatt	11	10	12	8	1	1	1	0	0	1	1	1	3	1	3	1	4	1	1	1	4	4	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.116C>T	p.Ser39Phe	p.S39F	ENST00000369209	2/12	83	63	20	83	83	0	strelka-varscan-mutect	HSPA12A,missense_variant,p.Ser56Phe,ENST00000635765,;HSPA12A,missense_variant,p.Ser39Phe,ENST00000369209,NM_025015.2;HSPA12A,missense_variant,p.Ser32Phe,ENST00000468935,;	A	ENST00000369209	Transcript	missense_variant	221/5722	116/2028	39/675	S/F	tCc/tTc		1		-1	HSPA12A	HGNC	HGNC:19022	protein_coding	YES	CCDS41569.1	ENSP00000358211	O43301		UPI00001B3DE3	NM_025015.2	deleterious_low_confidence(0.02)		2/12		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF46																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	116707210	116707210	G	A	1	0	0	0	0	1	0	0	0	7300	1174	41	3		3	HSPA12A	10	116707210	Missense_Mutation	SNP	G	C3N-00294_TP	1535941	116707210	17090212	747	14249											
ATE1	0	.	GRCh38	chr10	121836744	121836744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcatcttgggacatgaatGaatgtagaaacccatataat	15	13	7	6	0	2	3	1	2	1	1	2	4	2	4	1	1	1	1	1	1	6	5	rs200140033		C3N-00294_TP	C3N-00294_NB	G	G																c.1231C>T	p.His411Tyr	p.H411Y	ENST00000224652	10/12	114	89	25	187	187	0	strelka-varscan-mutect	ATE1,missense_variant,p.His404Tyr,ENST00000540606,NM_001288736.1;ATE1,missense_variant,p.His411Tyr,ENST00000224652,NM_001001976.2;ATE1,missense_variant,p.His411Tyr,ENST00000369043,NM_007041.3;ATE1,missense_variant,p.His296Tyr,ENST00000543447,NM_001288734.1;ATE1,missense_variant,p.His315Tyr,ENST00000369040,NM_001288735.1;ATE1,missense_variant,p.His408Tyr,ENST00000423243,;ATE1,downstream_gene_variant,,ENST00000481784,;	A	ENST00000224652	Transcript	missense_variant	1345/4930	1231/1557	411/518	H/Y	Cat/Tat	rs200140033	1		-1	ATE1	HGNC	HGNC:782	protein_coding	YES	CCDS31300.1	ENSP00000224652	O95260		UPI0000126223	NM_001001976.2	deleterious(0.01)		10/12		hmmpanther:PTHR21367,hmmpanther:PTHR21367:SF1,Pfam_domain:PF04377,PIRSF_domain:PIRSF037207,Superfamily_domains:SSF55729																	MODERATE	1	SNV	1			1										PASS		rs200140033	.												A	3	1	46	121836744	121836744	G	A	1	0	0	0	0	1	0	0	0	1227	1290	45	3		3	ATE1	10	121836744	Missense_Mutation	SNP	G	C3N-00294_TP	5129534	121836744	11960678	748	14250											
TACC2	0	.	GRCh38	chr10	122211102	122211102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtggcagagtgcagaactCaccccctgtcgggaggaaaa	12	5	14	10	1	1	2	1	0	0	2	2	4	1	4	2	4	2	2	2	4	3	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.6677C>T	p.Ser2226Leu	p.S2226L	ENST00000369005	9/23	66	53	13	87	87	0	strelka-varscan-mutect	TACC2,missense_variant,p.Ser2226Leu,ENST00000369005,NM_206862.3;TACC2,missense_variant,p.Ser2226Leu,ENST00000334433,;TACC2,missense_variant,p.Ser2230Leu,ENST00000515273,NM_001291877.1;TACC2,missense_variant,p.Ser2230Leu,ENST00000453444,;TACC2,missense_variant,p.Ser2181Leu,ENST00000515603,NM_001291876.1;TACC2,missense_variant,p.Ser372Leu,ENST00000513429,NM_206861.2;TACC2,missense_variant,p.Ser304Leu,ENST00000360561,NM_206860.2;TACC2,missense_variant,p.Ser304Leu,ENST00000368999,;TACC2,missense_variant,p.Ser372Leu,ENST00000358010,;TACC2,missense_variant,p.Ser304Leu,ENST00000369004,NM_001291878.1;TACC2,missense_variant,p.Ser304Leu,ENST00000260733,NM_006997.3;TACC2,missense_variant,p.Ser321Leu,ENST00000514539,;TACC2,missense_variant,p.Ser67Leu,ENST00000505639,;TACC2,5_prime_UTR_variant,,ENST00000369000,;TACC2,5_prime_UTR_variant,,ENST00000369001,NM_001291879.1;TACC2,upstream_gene_variant,,ENST00000496913,;TACC2,upstream_gene_variant,,ENST00000508411,;TACC2,downstream_gene_variant,,ENST00000493951,;TACC2,downstream_gene_variant,,ENST00000492237,;TACC2,missense_variant,p.Ser73Leu,ENST00000440764,;TACC2,non_coding_transcript_exon_variant,,ENST00000368997,;	T	ENST00000369005	Transcript	missense_variant	7017/9673	6677/8847	2226/2948	S/L	tCa/tTa		1		1	TACC2	HGNC	HGNC:11523	protein_coding	YES	CCDS7626.1	ENSP00000358001	O95359		UPI0000246F6B	NM_206862.3	deleterious(0)		9/23		hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	122211102	122211102	C	T	1	0	0	0	0	1	0	0	0	15898	838	29	3		3	TACC2	10	122211102	Missense_Mutation	SNP	C	C3N-00294_TP	374358	122211102	11586320	749	14251											
IKZF5	0	.	GRCh38	chr10	122994087	122994087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatagttcctttgactatggGatggccgaggttctgggctt	6	15	13	7	1	1	1	0	1	1	0	2	3	2	2	2	4	0	3	2	4	3	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.953C>T	p.Ser318Phe	p.S318F	ENST00000368886	5/5	412	332	80	409	409	0	strelka-varscan-mutect	IKZF5,missense_variant,p.Ser318Phe,ENST00000368886,;IKZF5,missense_variant,p.Ser318Phe,ENST00000617859,NM_001271840.1;PSTK,downstream_gene_variant,,ENST00000368887,NM_153336.2;PSTK,downstream_gene_variant,,ENST00000406217,;PSTK,intron_variant,,ENST00000497219,;PSTK,intron_variant,,ENST00000496079,;PSTK,downstream_gene_variant,,ENST00000465232,;IKZF5,downstream_gene_variant,,ENST00000479103,;PSTK,downstream_gene_variant,,ENST00000483455,;IKZF5,downstream_gene_variant,,ENST00000496605,;PSTK,downstream_gene_variant,,ENST00000483755,;IKZF5,downstream_gene_variant,,ENST00000469821,;	A	ENST00000368886	Transcript	missense_variant	1274/4555	953/1260	318/419	S/F	tCc/tTc		1		-1	IKZF5	HGNC	HGNC:14283	protein_coding	YES	CCDS41574.1	ENSP00000357881	Q9H5V7		UPI000006DBBE		tolerated(0.16)		5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR24387:SF7,hmmpanther:PTHR24387																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	122994087	122994087	G	A	1	0	0	0	0	1	0	0	0	7526	1174	41	3		3	IKZF5	10	122994087	Missense_Mutation	SNP	G	C3N-00294_TP	782985	122994087	10803335	750	14252											
HMX3	0	.	GRCh38	chr10	123136284	123136284	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggccaagggggccctggaGggcgccgcgggcttcgcgct	3	4	20	14	6	0	0	0	0	0	0	1	1	0	1	3	6	0	2	3	6	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.234G>A	p.=	p.E78E	ENST00000357878	1/2	125	103	22	127	127	0	strelka-varscan-mutect	HMX3,synonymous_variant,p.=,ENST00000357878,NM_001105574.1;	A	ENST00000357878	Transcript	synonymous_variant	323/1173	234/1074	78/357	E	gaG/gaA		1		1	HMX3	HGNC	HGNC:5019	protein_coding	YES	CCDS41575.1	ENSP00000350549	A6NHT5		UPI000047C635	NM_001105574.1			1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF291,Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	46	123136284	123136284	G	A	1	0	0	0	0	0	0	0	1	7139	991	35	3		3	HMX3	10	123136284	Silent	SNP	G	C3N-00294_TP	142197	123136284	10661138	751	14253											
GPR26	0	.	GRCh38	chr10	123666491	123666491	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaacgcgctggtgctgctCtgcctgctgcacagcgcgga	5	8	13	15	4	1	0	0	0	1	0	2	1	2	1	2	2	7	5	2	2	1	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.84C>T	p.=	p.L28L	ENST00000284674	1/3	137	95	42	109	109	0	strelka-varscan-mutect	GPR26,synonymous_variant,p.=,ENST00000284674,NM_153442.3;	T	ENST00000284674	Transcript	synonymous_variant	137/7514	84/1014	28/337	L	ctC/ctT		1		1	GPR26	HGNC	HGNC:4481	protein_coding	YES	CCDS7636.1	ENSP00000284674	Q8NDV2		UPI000006E821	NM_153442.3			1/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF6,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	123666491	123666491	C	T	1	0	0	0	0	0	0	0	1	6568	900	32	3		3	GPR26	10	123666491	Silent	SNP	C	C3N-00294_TP	530207	123666491	10130931	752	14254											
ADAM12	0	.	GRCh38	chr10	126019801	126019801	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgcaggcagaggcttctGaggggggtttggcttacagg	7	10	17	7	0	2	2	0	1	2	1	2	2	2	2	0	7	2	5	0	7	1	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2563C>T	p.Gln855Ter	p.Q855*	ENST00000368679	22/23	140	105	35	158	158	0	strelka-varscan-mutect	ADAM12,stop_gained,p.Gln855Ter,ENST00000368679,NM_003474.5,NM_001288973.1;	A	ENST00000368679	Transcript	stop_gained	2873/7938	2563/2730	855/909	Q/*	Cag/Tag		1		-1	ADAM12	HGNC	HGNC:190	protein_coding	YES	CCDS7653.1	ENSP00000357668	O43184		UPI000036672C	NM_003474.5,NM_001288973.1			22/23		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF112																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	46	126019801	126019801	G	A	1	0	0	0	0	0	1	0	0	280	1299	45	3		3	ADAM12	10	126019801	Nonsense_Mutation	SNP	G	C3N-00294_TP	2353310	126019801	7777621	753	14255											
CFAP46	0	.	GRCh38	chr10	132810982	132810982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgctctccatgtgcctcttCaagctctggtaggaccgcgc	6	10	10	15	3	4	0	1	0	3	0	5	1	4	1	3	2	2	3	3	2	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.7551G>A	p.=	p.L2517L	ENST00000368586	56/58	227	189	38	322	322	0	strelka-varscan-mutect	CFAP46,synonymous_variant,p.=,ENST00000368586,NM_001200049.2;	T	ENST00000368586	Transcript	synonymous_variant	7652/8278	7551/8148	2517/2715	L	ttG/ttA		1		-1	CFAP46	HGNC	HGNC:25247	protein_coding	YES	CCDS58101.1	ENSP00000357575	Q8IYW2		UPI0001B79116	NM_001200049.2			56/58																			LOW	1	SNV	5			1										PASS		rs1413730499	.												T	2	4	46	132810982	132810982	C	T	1	0	0	0	0	0	0	0	1	3021	825	29	3		3	CFAP46	10	132810982	Silent	SNP	C	C3N-00294_TP	6791181	132810982	986440	754	14256											
FRG2B	0	.	GRCh38	chr10	133625422	133625422	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggtcaccaagctttttcGaattgacggtgtttggactc	9	13	11	8	2	1	2	1	1	0	1	3	4	1	3	1	3	1	2	1	3	2	4	rs370297187		C3N-00294_TP	C3N-00294_NB	G	G																c.514C>T	p.Arg172Ter	p.R172*	ENST00000425520	4/4	577	489	88	604	604	0	strelka-varscan-mutect	FRG2B,stop_gained,p.Arg173Ter,ENST00000443774,;FRG2B,stop_gained,p.Arg172Ter,ENST00000425520,NM_001080998.1;	A	ENST00000425520	Transcript	stop_gained	567/890	514/837	172/278	R/*	Cga/Tga	rs370297187,COSM388663	1		-1	FRG2B	HGNC	HGNC:33518	protein_coding	YES	CCDS44502.1	ENSP00000401310	Q96QU4		UPI00000727C6	NM_001080998.1			4/4		hmmpanther:PTHR31883,hmmpanther:PTHR31883:SF3,Pfam_domain:PF15315,Prints_domain:PR02074											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs370297187	.												A	4	1	46	133625422	133625422	G	A	1	0	0	0	0	0	1	0	0	5916	1066	37	1		1	FRG2B	10	133625422	Nonsense_Mutation	SNP	G	C3N-00294_TP	814440	133625422	172000	755	14257											
SIGIRR	0	.	GRCh38	chr11	408082	408082	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccccatcaccagctctctGaagagtgaaggaggagaagc	13	5	11	12	0	2	4	1	2	1	2	3	6	2	5	3	2	2	1	3	2	3	0			C3N-00294_TP	C3N-00294_NB	G	G																c.331C>T	p.Gln111Ter	p.Q111*	ENST00000431843	4/10	140	119	21	154	154	0	strelka-mutect	SIGIRR,stop_gained,p.Gln111Ter,ENST00000431843,NM_001135054.1;SIGIRR,stop_gained,p.Gln111Ter,ENST00000531205,;SIGIRR,stop_gained,p.Gln111Ter,ENST00000332725,NM_021805.2,NM_001135053.1;SIGIRR,stop_gained,p.Gln111Ter,ENST00000397632,;SIGIRR,synonymous_variant,p.=,ENST00000528209,;SIGIRR,intron_variant,,ENST00000530494,;PKP3,downstream_gene_variant,,ENST00000331563,NM_001303029.1,NM_007183.3;SIGIRR,upstream_gene_variant,,ENST00000526395,;SIGIRR,upstream_gene_variant,,ENST00000528845,;SIGIRR,downstream_gene_variant,,ENST00000528058,;PKP3,downstream_gene_variant,,ENST00000525642,;SIGIRR,non_coding_transcript_exon_variant,,ENST00000529486,;SIGIRR,non_coding_transcript_exon_variant,,ENST00000534217,;SIGIRR,non_coding_transcript_exon_variant,,ENST00000528116,;SIGIRR,non_coding_transcript_exon_variant,,ENST00000525299,;SIGIRR,non_coding_transcript_exon_variant,,ENST00000530683,;SIGIRR,non_coding_transcript_exon_variant,,ENST00000526788,;SIGIRR,non_coding_transcript_exon_variant,,ENST00000527136,;SIGIRR,intron_variant,,ENST00000528698,;SIGIRR,non_coding_transcript_exon_variant,,ENST00000527295,;SIGIRR,upstream_gene_variant,,ENST00000527987,;SIGIRR,downstream_gene_variant,,ENST00000525070,;SIGIRR,upstream_gene_variant,,ENST00000534145,;SIGIRR,upstream_gene_variant,,ENST00000528536,;	A	ENST00000431843	Transcript	stop_gained	638/1720	331/1233	111/410	Q/*	Cag/Tag	COSM1298025,COSM4811153	1		-1	SIGIRR	HGNC	HGNC:30575	protein_coding	YES	CCDS31325.1	ENSP00000403104	Q6IA17		UPI000049DD22	NM_001135054.1			4/10		hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF19											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												A	4	1	46	408082	408082	G	A	1	0	0	0	0	0	1	0	0	14568	1299	45	3		3	SIGIRR	11	408082	Nonsense_Mutation	SNP	G	C3N-00294_TP		408082	134678540	756	14258											
PTDSS2	0	.	GRCh38	chr11	487028	487028	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactacgggggaaactgcctCatctacgacccagacaatga	13	6	10	12	2	2	2	1	1	1	1	2	5	2	3	2	2	4	0	2	2	4	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.525C>T	p.=	p.L175L	ENST00000308020	5/12	90	76	14	112	112	0	strelka-varscan-mutect	PTDSS2,synonymous_variant,p.=,ENST00000308020,NM_030783.1;PTDSS2,non_coding_transcript_exon_variant,,ENST00000532614,;PTDSS2,3_prime_UTR_variant,,ENST00000531520,;PTDSS2,non_coding_transcript_exon_variant,,ENST00000526878,;PTDSS2,upstream_gene_variant,,ENST00000527325,;PTDSS2,upstream_gene_variant,,ENST00000531411,;PTDSS2,upstream_gene_variant,,ENST00000530029,;	T	ENST00000308020	Transcript	synonymous_variant	701/2445	525/1464	175/487	L	ctC/ctT		1		1	PTDSS2	HGNC	HGNC:15463	protein_coding	YES	CCDS7696.1	ENSP00000308258	Q9BVG9	A0A024RC97	UPI000004124C	NM_030783.1			5/12		Pfam_domain:PF03034,hmmpanther:PTHR15362,hmmpanther:PTHR15362:SF12																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	487028	487028	C	T	1	0	0	0	0	0	0	0	1	12890	813	29	3		3	PTDSS2	11	487028	Silent	SNP	C	C3N-00294_TP	78946	487028	134599594	757	14259											
MUC5B	0	.	GRCh38	chr11	1241128	1241128	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccaacagagtcccccgctCtgtcacgactacgagctgcg	9	6	10	16	4	2	1	1	0	1	1	3	3	3	1	3	0	5	2	3	0	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.4248C>G	p.=	p.L1416L	ENST00000529681	31/49	202	166	36	184	184	0	strelka-varscan-mutect	MUC5B,synonymous_variant,p.=,ENST00000529681,NM_002458.2;RP11-532E4.2,downstream_gene_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;	G	ENST00000529681	Transcript	synonymous_variant	4306/17911	4248/17289	1416/5762	L	ctC/ctG		1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2			31/49		Pfam_domain:PF13330																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	46	1241128	1241128	C	G	1	0	0	0	0	0	0	0	1	9979	900	32	4		4	MUC5B	11	1241128	Silent	SNP	C	C3N-00294_TP	754100	1241128	133845494	758	14260											
TRIM21	0	.	GRCh38	chr11	4385720	4385720	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaaagtgctgggcacccagGaccataggataactatcaaa	15	7	10	9	0	1	1	1	1	0	0	1	3	1	3	2	3	2	2	2	3	5	3			C3N-00294_TP	C3N-00294_NB	G	G																c.993C>T	p.=	p.V331V	ENST00000254436	7/7	205	173	32	236	236	0	strelka-varscan-mutect	TRIM21,synonymous_variant,p.=,ENST00000254436,NM_003141.3;TRIM21,synonymous_variant,p.=,ENST00000533692,;	A	ENST00000254436	Transcript	synonymous_variant	1106/1924	993/1428	331/475	V	gtC/gtT	COSM3447305,COSM3447306	1		-1	TRIM21	HGNC	HGNC:11312	protein_coding	YES	CCDS44525.1	ENSP00000254436	P19474		UPI000013450B	NM_003141.3			7/7		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF46,Pfam_domain:PF13765,SMART_domains:SM00589,Superfamily_domains:SSF49899,Prints_domain:PR01407											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1303700804	.												A	2	1	46	4385720	4385720	G	A	1	0	0	0	0	0	0	0	1	16984	1161	41	3		3	TRIM21	11	4385720	Silent	SNP	G	C3N-00294_TP	3144592	4385720	130700902	759	14261											
OR52K1	0	.	GRCh38	chr11	4489767	4489767	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccttttcccacccatggtCaatcctatcatatatggagt	9	14	5	13	0	2	0	2	0	0	0	5	1	5	1	4	2	0	0	4	2	4	5	rs769252225		C3N-00294_TP	C3N-00294_NB	C	C																c.867C>G	p.=	p.V289V	ENST00000307632	1/1	151	120	31	161	161	0	strelka-varscan-mutect	OR52K1,synonymous_variant,p.=,ENST00000307632,NM_001005171.2;	G	ENST00000307632	Transcript	synonymous_variant	889/1030	867/945	289/314	V	gtC/gtG	rs769252225	1		1	OR52K1	HGNC	HGNC:15222	protein_coding	YES	CCDS31352.1	ENSP00000302422	Q8NGK4	A0A126GVF2	UPI00001AEE74	NM_001005171.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF144,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs769252225	.												G	2	3	46	4489767	4489767	C	G	1	0	0	0	0	0	0	0	1	11196	813	29	4		4	OR52K1	11	4489767	Silent	SNP	C	C3N-00294_TP	104047	4489767	130596855	760	14262											
OR51G2	0	.	GRCh38	chr11	4914815	4914815	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaggaaagagaagatacatGaaacccatgaccacctggac	17	4	11	9	0	0	4	0	2	0	2	0	8	0	7	3	3	2	0	3	3	4	1			C3N-00294_TP	C3N-00294_NB	G	G																c.849C>T	p.=	p.F283F	ENST00000322013	1/1	153	123	30	181	181	0	strelka-varscan-mutect	OR51G2,synonymous_variant,p.=,ENST00000322013,NM_001005238.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	A	ENST00000322013	Transcript	synonymous_variant	849/945	849/945	283/314	F	ttC/ttT	COSM1719807	1		-1	OR51G2	HGNC	HGNC:15198	protein_coding	YES	CCDS31365.1	ENSP00000322593	Q8NGK0		UPI0000041C2F	NM_001005238.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF133,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						LOW		SNV			1	1										PASS		.	.												A	2	1	46	4914815	4914815	G	A	1	0	0	0	0	0	0	0	1	11171	1281	45	3		3	OR51G2	11	4914815	Silent	SNP	G	C3N-00294_TP	425048	4914815	130171807	761	14263											
OR10A5	0	.	GRCh38	chr11	6846228	6846228	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaccacttcttctgtgacagCccgcctgtgctgaagctggt	7	11	10	13	1	2	2	0	2	2	0	2	2	2	2	3	1	4	2	3	1	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.546C>A	p.Ser182Arg	p.S182R	ENST00000299454	1/1	279	171	108	328	328	0	strelka-varscan-mutect	OR10A5,missense_variant,p.Ser182Arg,ENST00000299454,NM_178168.1;RP11-413N10.3,intron_variant,,ENST00000637205,;RP11-560B16.5,upstream_gene_variant,,ENST00000530632,;	A	ENST00000299454	Transcript	missense_variant	577/1054	546/954	182/317	S/R	agC/agA		1		1	OR10A5	HGNC	HGNC:15131	protein_coding	YES	CCDS7773.1	ENSP00000299454	Q9H207	A0A126GWR0	UPI000004C155	NM_178168.1	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs1247279087	.												A	3	1	46	6846228	6846228	C	A	1	0	0	0	0	1	0	0	0	10969	738	26	2		2	OR10A5	11	6846228	Missense_Mutation	SNP	C	C3N-00294_TP	1931413	6846228	128240394	762	14264											
PPFIBP2	0	.	GRCh38	chr11	7651776	7651776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgattggtccggaggctGaacaggagaagcgagagaaa	13	6	15	7	2	0	4	0	2	0	2	1	8	1	5	2	4	2	1	2	4	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2368G>A	p.Glu790Lys	p.E790K	ENST00000299492	23/24	94	70	24	87	86	1	strelka-varscan-mutect	PPFIBP2,missense_variant,p.Glu790Lys,ENST00000299492,NM_003621.3;PPFIBP2,missense_variant,p.Glu632Lys,ENST00000533792,;PPFIBP2,missense_variant,p.Glu647Lys,ENST00000530181,NM_001256569.1;PPFIBP2,missense_variant,p.Glu678Lys,ENST00000528883,NM_001256568.1;PPFIBP2,missense_variant,p.Glu22Lys,ENST00000534552,;PPFIBP2,non_coding_transcript_exon_variant,,ENST00000530582,;PPFIBP2,intron_variant,,ENST00000532926,;PPFIBP2,intron_variant,,ENST00000529021,;PPFIBP2,downstream_gene_variant,,ENST00000524495,;PPFIBP2,non_coding_transcript_exon_variant,,ENST00000529664,;PPFIBP2,downstream_gene_variant,,ENST00000532112,;PPFIBP2,downstream_gene_variant,,ENST00000528929,;	A	ENST00000299492	Transcript	missense_variant	2756/3557	2368/2631	790/876	E/K	Gaa/Aaa		1		1	PPFIBP2	HGNC	HGNC:9250	protein_coding	YES	CCDS31419.1	ENSP00000299492	Q8ND30		UPI00001C1EF8	NM_003621.3	deleterious(0.01)		23/24		hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	7651776	7651776	G	A	1	0	0	0	0	1	0	0	0	12423	1291	45	3		3	PPFIBP2	11	7651776	Missense_Mutation	SNP	G	C3N-00294_TP	805548	7651776	127434846	763	14265											
SWAP70	0	.	GRCh38	chr11	9729419	9729419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttttgaaatcagtgcttCagataagaagaagaaacagg	17	9	10	5	0	2	5	2	1	0	4	2	6	2	5	0	1	2	1	0	1	5	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.866C>T	p.Ser289Leu	p.S289L	ENST00000318950	6/12	147	120	27	221	221	0	strelka-varscan-mutect	SWAP70,missense_variant,p.Ser289Leu,ENST00000318950,NM_015055.3;SWAP70,missense_variant,p.Ser231Leu,ENST00000447399,NM_001297714.1;SWAP70,missense_variant,p.Ser140Leu,ENST00000534662,;SWAP70,3_prime_UTR_variant,,ENST00000534562,;SWAP70,non_coding_transcript_exon_variant,,ENST00000524817,;SWAP70,downstream_gene_variant,,ENST00000526358,;SWAP70,downstream_gene_variant,,ENST00000531814,;	T	ENST00000318950	Transcript	missense_variant	969/4882	866/1758	289/585	S/L	tCa/tTa		1		1	SWAP70	HGNC	HGNC:17070	protein_coding	YES	CCDS31426.1	ENSP00000315630	Q9UH65		UPI0000073652	NM_015055.3	deleterious(0)		6/12		PROSITE_profiles:PS50003,hmmpanther:PTHR14383,hmmpanther:PTHR14383:SF6,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	9729419	9729419	C	T	1	0	0	0	0	1	0	0	0	15810	838	29	3		3	SWAP70	11	9729419	Missense_Mutation	SNP	C	C3N-00294_TP	2077643	9729419	125357203	764	14266											
PARVA	0	.	GRCh38	chr11	12517616	12517616	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctcttcctccagtttgcaGatggggtgtacctggtgctg	4	13	14	10	0	1	1	0	0	1	1	3	1	3	1	3	4	3	5	3	4	1	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.994G>C	p.Asp332His	p.D332H	ENST00000334956	11/13	121	94	27	148	148	0	strelka-varscan-mutect	PARVA,missense_variant,p.Asp332His,ENST00000334956,NM_018222.4;PARVA,downstream_gene_variant,,ENST00000533345,;	C	ENST00000334956	Transcript	missense_variant	1337/4458	994/1239	332/412	D/H	Gat/Cat		1		1	PARVA	HGNC	HGNC:14652	protein_coding	YES	CCDS44541.2	ENSP00000334008		J3KNQ4	UPI0000EE3866	NM_018222.4	deleterious(0)		11/13		Gene3D:1.10.418.10,Pfam_domain:PF00307,PIRSF_domain:PIRSF039131,PROSITE_profiles:PS50021,hmmpanther:PTHR12114,hmmpanther:PTHR12114:SF6,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		rs1269619011	.												C	3	2	46	12517616	12517616	G	C	1	0	0	0	0	1	0	0	0	11549	942	33	4		4	PARVA	11	12517616	Missense_Mutation	SNP	G	C3N-00294_TP	2788197	12517616	122569006	765	14267											
PDE3B	0	.	GRCh38	chr11	14843892	14843892	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaagagctgctctaatcctGatgagagttatggctgcctg	9	11	12	9	1	1	3	0	2	1	2	2	5	2	3	2	1	3	4	2	1	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2386G>C	p.Asp796His	p.D796H	ENST00000282096	12/16	235	200	35	258	258	0	strelka-varscan-mutect	PDE3B,missense_variant,p.Asp796His,ENST00000282096,NM_000922.3;PDE3B,missense_variant,p.Asp745His,ENST00000455098,;	C	ENST00000282096	Transcript	missense_variant	2739/6076	2386/3339	796/1112	D/H	Gat/Cat		1		1	PDE3B	HGNC	HGNC:8779	protein_coding	YES	CCDS7817.1	ENSP00000282096	Q13370		UPI000013DCB7	NM_000922.3	deleterious(0)		12/16		Gene3D:1.10.1300.10,SMART_domains:SM00471,Superfamily_domains:SSF109604																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	14843892	14843892	G	C	1	0	0	0	0	1	0	0	0	11726	1290	45	4		4	PDE3B	11	14843892	Missense_Mutation	SNP	G	C3N-00294_TP	2326276	14843892	120242730	766	14268											
MRGPRX2	0	.	GRCh38	chr11	19055860	19055860	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtgatgaaatcaaatgtCtgacaccaaccagagtcacc	15	7	8	11	0	3	4	2	3	1	1	3	4	3	4	3	0	1	1	3	0	3	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.543G>C	p.Gln181His	p.Q181H	ENST00000329773	2/2	147	114	33	134	134	0	strelka-varscan-mutect	MRGPRX2,missense_variant,p.Gln181His,ENST00000329773,NM_001303615.1,NM_054030.3;	G	ENST00000329773	Transcript	missense_variant	631/2036	543/993	181/330	Q/H	caG/caC		1		-1	MRGPRX2	HGNC	HGNC:17983	protein_coding	YES	CCDS7847.1	ENSP00000333800	Q96LB1		UPI0000038C81	NM_001303615.1,NM_054030.3	tolerated(0.11)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF35,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	19055860	19055860	C	G	1	0	0	0	0	1	0	0	0	9734	912	32	4		4	MRGPRX2	11	19055860	Missense_Mutation	SNP	C	C3N-00294_TP	4211968	19055860	116030762	767	14269											
METTL15	0	.	GRCh38	chr11	28113515	28113515	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaggagttacacagatctCaagatagagattttgaaact	15	10	8	8	0	1	4	1	1	1	3	2	6	1	5	1	1	2	1	1	1	4	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.181C>T	p.Gln61Ter	p.Q61*	ENST00000407364	3/7	176	145	31	244	244	0	strelka-varscan-mutect	METTL15,stop_gained,p.Gln61Ter,ENST00000406787,NM_001297775.1;METTL15,stop_gained,p.Gln61Ter,ENST00000407364,NM_001113528.1;METTL15,stop_gained,p.Gln61Ter,ENST00000303459,NM_152636.2;METTL15,stop_gained,p.Gln61Ter,ENST00000634721,;METTL15,stop_gained,p.Gln61Ter,ENST00000403099,;METTL15,stop_gained,p.Gln61Ter,ENST00000634762,;METTL15,stop_gained,p.Gln61Ter,ENST00000451385,;METTL15,stop_gained,p.Gln61Ter,ENST00000532947,;METTL15,stop_gained,p.Gln61Ter,ENST00000634973,;METTL15,stop_gained,p.Gln61Ter,ENST00000634627,;METTL15,stop_gained,p.Gln61Ter,ENST00000437814,;	T	ENST00000407364	Transcript	stop_gained	533/4242	181/1224	61/407	Q/*	Caa/Taa		1		1	METTL15	HGNC	HGNC:26606	protein_coding	YES	CCDS44559.1	ENSP00000384369	A6NJ78		UPI0000DBEF34	NM_001113528.1			3/7		hmmpanther:PTHR11265,hmmpanther:PTHR11265:SF0																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	46	28113515	28113515	C	T	1	0	0	0	0	0	1	0	0	9441	827	29	3		3	METTL15	11	28113515	Nonsense_Mutation	SNP	C	C3N-00294_TP	9057655	28113515	106973107	768	14270											
IMMP1L	0	.	GRCh38	chr11	31463225	31463225	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagctatacagccatattGaatagtatagccaacaagtc	16	10	7	8	0	0	2	0	2	0	0	1	2	0	2	2	0	5	2	2	0	9	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.52C>T	p.Gln18Ter	p.Q18*	ENST00000278200	3/7	124	101	23	145	145	0	strelka-varscan-mutect	IMMP1L,stop_gained,p.Gln18Ter,ENST00000278200,NM_144981.2;IMMP1L,stop_gained,p.Gln18Ter,ENST00000532287,NM_001304274.1;IMMP1L,stop_gained,p.Gln18Ter,ENST00000530023,;IMMP1L,stop_gained,p.Gln18Ter,ENST00000529749,;IMMP1L,stop_gained,p.Gln18Ter,ENST00000526776,;IMMP1L,intron_variant,,ENST00000534812,;IMMP1L,intron_variant,,ENST00000533642,;IMMP1L,non_coding_transcript_exon_variant,,ENST00000532624,;IMMP1L,non_coding_transcript_exon_variant,,ENST00000527184,;IMMP1L,non_coding_transcript_exon_variant,,ENST00000531693,;IMMP1L,intron_variant,,ENST00000528161,;	A	ENST00000278200	Transcript	stop_gained	248/795	52/501	18/166	Q/*	Caa/Taa		1		-1	IMMP1L	HGNC	HGNC:26317	protein_coding	YES	CCDS7874.1	ENSP00000278200	Q96LU5		UPI00000427B2	NM_144981.2			3/7		hmmpanther:PTHR12383,hmmpanther:PTHR12383:SF16																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	46	31463225	31463225	G	A	1	0	0	0	0	0	1	0	0	7619	1299	45	3		3	IMMP1L	11	31463225	Nonsense_Mutation	SNP	G	C3N-00294_TP	3349710	31463225	103623397	769	14271											
PAX6	0	.	GRCh38	chr11	31794780	31794780	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccctccttcctgttgctGgcagccatctggaacaaaaa	9	10	7	15	0	1	0	0	0	1	0	4	1	4	1	5	2	3	3	5	2	3	2			C3N-00294_TP	C3N-00294_NB	G	G																c.574C>G	p.Gln192Glu	p.Q192E	ENST00000419022	9/14	300	240	60	285	285	0	strelka-varscan-mutect	PAX6,missense_variant,p.Gln192Glu,ENST00000419022,NM_001310158.1,NM_001310161.1,NM_001258462.1;PAX6,missense_variant,p.Gln192Glu,ENST00000606377,NM_001310161.1,NM_001258463.1;PAX6,missense_variant,p.Gln192Glu,ENST00000379129,;PAX6,missense_variant,p.Gln192Glu,ENST00000379107,;PAX6,missense_variant,p.Gln178Glu,ENST00000379132,NM_001127612.1;PAX6,missense_variant,p.Gln178Glu,ENST00000379123,NM_001258464.1,NM_000280.4;PAX6,missense_variant,p.Gln178Glu,ENST00000379109,;PAX6,missense_variant,p.Gln192Glu,ENST00000379115,NM_001604.5;PAX6,missense_variant,p.Gln178Glu,ENST00000241001,;PAX6,missense_variant,p.Gln178Glu,ENST00000379111,NM_001258465.1;PAX6,incomplete_terminal_codon_variant,p.=,ENST00000455099,;PAX6,non_coding_transcript_exon_variant,,ENST00000471303,;PAX6,non_coding_transcript_exon_variant,,ENST00000531910,;PAX6,non_coding_transcript_exon_variant,,ENST00000530373,;PAX6,non_coding_transcript_exon_variant,,ENST00000533333,;PAX6,non_coding_transcript_exon_variant,,ENST00000470027,;PAX6,non_coding_transcript_exon_variant,,ENST00000494377,;PAX6,non_coding_transcript_exon_variant,,ENST00000464174,;PAX6,upstream_gene_variant,,ENST00000474783,;PAX6,upstream_gene_variant,,ENST00000532916,;	C	ENST00000419022	Transcript	missense_variant	1043/6922	574/1311	192/436	Q/E	Cag/Gag	CM1110705	1		-1	PAX6	HGNC	HGNC:8620	protein_coding	YES	CCDS31452.1	ENSP00000404100	P26367	F1T0F8	UPI000002B0A0	NM_001310158.1,NM_001310161.1,NM_001258462.1	tolerated(0.49)		9/14		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF294,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	46	31794780	31794780	G	C	1	0	0	0	0	1	0	0	0	11568	1357	47	4		4	PAX6	11	31794780	Missense_Mutation	SNP	G	C3N-00294_TP	331555	31794780	103291842	770	14272											
DEPDC7	0	.	GRCh38	chr11	33027738	33027738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagatcagccagtttagagGacctgtgggaaaatctgagt	12	10	12	7	0	3	3	2	1	1	2	3	5	3	5	2	2	1	1	2	2	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.517G>A	p.Asp173Asn	p.D173N	ENST00000241051	3/9	91	71	20	96	96	0	strelka-varscan-mutect	DEPDC7,missense_variant,p.Asp164Asn,ENST00000311388,NM_139160.2;DEPDC7,missense_variant,p.Asp173Asn,ENST00000241051,NM_001077242.1;DEPDC7,non_coding_transcript_exon_variant,,ENST00000532078,;DEPDC7,downstream_gene_variant,,ENST00000427755,;	A	ENST00000241051	Transcript	missense_variant	609/1755	517/1536	173/511	D/N	Gac/Aac		1		1	DEPDC7	HGNC	HGNC:29899	protein_coding	YES	CCDS41632.1	ENSP00000241051	Q96QD5		UPI000006E96C	NM_001077242.1	tolerated(0.24)		3/9		hmmpanther:PTHR16206:SF9,hmmpanther:PTHR16206,Gene3D:1.10.10.10,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	33027738	33027738	G	A	1	0	0	0	0	1	0	0	0	4249	1174	41	3		3	DEPDC7	11	33027738	Missense_Mutation	SNP	G	C3N-00294_TP	1232958	33027738	102058884	771	14273											
FBXO3	0	.	GRCh38	chr11	33748888	33748888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgcatcttttgacatttCaatcctagagaagggaatgg	13	12	10	6	0	2	2	1	1	1	1	3	4	3	3	1	2	1	1	1	2	5	4			C3N-00294_TP	C3N-00294_NB	C	C																c.937G>A	p.Glu313Lys	p.E313K	ENST00000265651	9/11	94	83	11	89	89	0	strelka-varscan-mutect	FBXO3,missense_variant,p.Glu308Lys,ENST00000530401,;FBXO3,missense_variant,p.Glu200Lys,ENST00000526785,;FBXO3,missense_variant,p.Glu313Lys,ENST00000534136,;FBXO3,missense_variant,p.Glu313Lys,ENST00000265651,NM_012175.3;FBXO3,missense_variant,p.Glu313Lys,ENST00000448981,NM_033406.2;FBXO3,5_prime_UTR_variant,,ENST00000531080,;FBXO3,5_prime_UTR_variant,,ENST00000532057,;FBXO3,upstream_gene_variant,,ENST00000527772,;FBXO3,3_prime_UTR_variant,,ENST00000532927,;FBXO3,non_coding_transcript_exon_variant,,ENST00000530013,;	T	ENST00000265651	Transcript	missense_variant	956/2397	937/1416	313/471	E/K	Gaa/Aaa	COSM926555	1		-1	FBXO3	HGNC	HGNC:13582	protein_coding	YES	CCDS7887.1	ENSP00000265651	Q9UK99		UPI000000DB30	NM_012175.3	tolerated(0.06)		9/11		PROSITE_profiles:PS51087,hmmpanther:PTHR14289,hmmpanther:PTHR14289:SF16,Gene3D:1xvsA00,Pfam_domain:PF04379,Superfamily_domains:SSF110069											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	46	33748888	33748888	C	T	1	0	0	0	0	1	0	0	0	5602	840	29	3		3	FBXO3	11	33748888	Missense_Mutation	SNP	C	C3N-00294_TP	721150	33748888	101337734	772	14274											
TRAF6	0	.	GRCh38	chr11	36490495	36490495	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttgtcttacaaggcgAccctctaactggtgaatagt	9	13	10	9	1	3	1	0	1	3	0	3	2	3	1	1	3	2	0	1	3	5	4	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.912T>C	p.=	p.G304G	ENST00000526995	7/7	163	120	43	189	189	0	strelka-varscan-mutect	TRAF6,synonymous_variant,p.=,ENST00000526995,NM_004620.3;TRAF6,synonymous_variant,p.=,ENST00000348124,NM_145803.2;TRAF6,non_coding_transcript_exon_variant,,ENST00000529150,;	G	ENST00000526995	Transcript	synonymous_variant	1159/4627	912/1569	304/522	G	ggT/ggC		1		-1	TRAF6	HGNC	HGNC:12036	protein_coding	YES	CCDS7901.1	ENSP00000433623	Q9Y4K3		UPI000000D924	NM_004620.3			7/7		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10131:SF85,hmmpanther:PTHR10131,PIRSF_domain:PIRSF015614																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	46	36490495	36490495	A	G	1	0	0	0	0	0	0	0	1	16928	262	10	5		5	TRAF6	11	36490495	Silent	SNP	A	C3N-00294_TP	2741607	36490495	98596127	773	14275											
RAG1	0	.	GRCh38	chr11	36573766	36573766	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctacttcctggccggacctCattgccaaggttttccggat	6	12	10	13	2	1	0	1	0	0	0	3	2	3	2	5	4	2	2	5	4	2	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.462C>T	p.=	p.L154L	ENST00000299440	2/2	273	217	56	250	250	0	strelka-varscan-mutect	RAG1,synonymous_variant,p.=,ENST00000299440,NM_000448.2;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,synonymous_variant,p.=,ENST00000534663,;	T	ENST00000299440	Transcript	synonymous_variant	574/6564	462/3132	154/1043	L	ctC/ctT		1		1	RAG1	HGNC	HGNC:9831	protein_coding	YES	CCDS7902.1	ENSP00000299440	P15918		UPI000013E5A0	NM_000448.2			2/2		Pfam_domain:PF12560,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	36573766	36573766	C	T	1	0	0	0	0	0	0	0	1	13164	813	29	3		3	RAG1	11	36573766	Silent	SNP	C	C3N-00294_TP	83271	36573766	98512856	774	14276											
RAG2	0	.	GRCh38	chr11	36593970	36593970	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagaggagggaggtagcAggaatccttagagaaaattg	15	6	16	4	1	0	2	0	0	0	2	1	7	1	5	1	4	1	2	1	4	6	3	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.199T>A	p.Cys67Ser	p.C67S	ENST00000618712	3/3	172	102	70	151	151	0	strelka-varscan-mutect	RAG2,missense_variant,p.Cys67Ser,ENST00000618712,NM_001243785.1,NM_001243786.1;RAG2,missense_variant,p.Cys67Ser,ENST00000311485,NM_000536.3;RAG2,missense_variant,p.Cys67Ser,ENST00000529083,;RAG2,missense_variant,p.Cys67Ser,ENST00000527033,;C11orf74,upstream_gene_variant,,ENST00000446510,NM_001276723.1,NM_001276722.1;C11orf74,upstream_gene_variant,,ENST00000617650,NM_001276724.1;C11orf74,upstream_gene_variant,,ENST00000532470,;C11orf74,upstream_gene_variant,,ENST00000334307,NM_138787.3;C11orf74,upstream_gene_variant,,ENST00000534635,NM_001276725.1;C11orf74,upstream_gene_variant,,ENST00000531554,;C11orf74,upstream_gene_variant,,ENST00000347206,NM_001276727.1,NM_001276726.1;C11orf74,upstream_gene_variant,,ENST00000530697,;RAG2,downstream_gene_variant,,ENST00000532616,;C11orf74,upstream_gene_variant,,ENST00000527108,;RAG2,intron_variant,,ENST00000524423,;RAG2,downstream_gene_variant,,ENST00000528428,;RAG2,downstream_gene_variant,,ENST00000534379,;RAG2,downstream_gene_variant,,ENST00000530276,;RAG1,downstream_gene_variant,,ENST00000534663,;C11orf74,upstream_gene_variant,,ENST00000528092,;C11orf74,upstream_gene_variant,,ENST00000524539,;	T	ENST00000618712	Transcript	missense_variant	793/2818	199/1584	67/527	C/S	Tgc/Agc		1		-1	RAG2	HGNC	HGNC:9832	protein_coding	YES	CCDS7903.1	ENSP00000478672	P55895		UPI00001330E9	NM_001243785.1,NM_001243786.1	tolerated(0.06)		3/3		Superfamily_domains:0047741,Gene3D:1zgkA00,Pfam_domain:PF03089,hmmpanther:PTHR10960,hmmpanther:PTHR10960:SF0																	MODERATE	1	SNV	4			1										PASS		.	.												T	3	4	46	36593970	36593970	A	T	1	0	0	0	0	1	0	0	0	13165	188	7	4		4	RAG2	11	36593970	Missense_Mutation	SNP	A	C3N-00294_TP	20204	36593970	98492652	775	14277											
AMBRA1	0	.	GRCh38	chr11	46542131	46542131	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgctcaactccagcctgctgGagctgggcgtttggccctca	5	10	12	14	1	2	0	2	0	0	0	3	1	3	1	3	3	5	4	3	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1886C>G	p.Ser629Cys	p.S629C	ENST00000534300	7/17	256	204	52	273	273	0	strelka-varscan-mutect	AMBRA1,missense_variant,p.Ser629Cys,ENST00000458649,;AMBRA1,missense_variant,p.Ser629Cys,ENST00000534300,NM_001300731.1;AMBRA1,missense_variant,p.Ser539Cys,ENST00000314845,NM_017749.3,NM_001267782.1;AMBRA1,missense_variant,p.Ser539Cys,ENST00000533727,NM_001267783.1;AMBRA1,missense_variant,p.Ser629Cys,ENST00000528950,;AMBRA1,downstream_gene_variant,,ENST00000531542,;AMBRA1,downstream_gene_variant,,ENST00000524783,;	C	ENST00000534300	Transcript	missense_variant	2200/5067	1886/3717	629/1238	S/C	tCc/tGc		1		-1	AMBRA1	HGNC	HGNC:25990	protein_coding	YES	CCDS73281.1	ENSP00000431926	Q9C0C7		UPI00005A6107	NM_001300731.1	deleterious_low_confidence(0.01)		7/17		Low_complexity_(Seg):seg,hmmpanther:PTHR22874,hmmpanther:PTHR22874:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	46542131	46542131	G	C	1	0	0	0	0	1	0	0	0	661	1174	41	4		4	AMBRA1	11	46542131	Missense_Mutation	SNP	G	C3N-00294_TP	9948161	46542131	88544491	776	14278			1	12		4	4	1132	G		1.61909e-05
AMBRA1	0	.	GRCh38	chr11	46542318	46542318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgtggcaagcacgacagcGattcaggtggccacgggaca	11	6	14	10	3	1	0	1	0	0	0	1	3	1	1	1	4	2	2	1	4	1	2			C3N-00294_TP	C3N-00294_NB	G	G																c.1699C>T	p.Arg567Cys	p.R567C	ENST00000534300	7/17	352	277	75	383	383	0	strelka-varscan-mutect	AMBRA1,missense_variant,p.Arg567Cys,ENST00000458649,;AMBRA1,missense_variant,p.Arg567Cys,ENST00000534300,NM_001300731.1;AMBRA1,missense_variant,p.Arg477Cys,ENST00000314845,NM_017749.3,NM_001267782.1;AMBRA1,missense_variant,p.Arg477Cys,ENST00000533727,NM_001267783.1;AMBRA1,missense_variant,p.Arg567Cys,ENST00000528950,;AMBRA1,downstream_gene_variant,,ENST00000531542,;AMBRA1,downstream_gene_variant,,ENST00000524783,;	A	ENST00000534300	Transcript	missense_variant	2013/5067	1699/3717	567/1238	R/C	Cgc/Tgc	COSM1980570,COSM1980571	1		-1	AMBRA1	HGNC	HGNC:25990	protein_coding	YES	CCDS73281.1	ENSP00000431926	Q9C0C7		UPI00005A6107	NM_001300731.1	deleterious_low_confidence(0)		7/17		hmmpanther:PTHR22874,hmmpanther:PTHR22874:SF1											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1214838212	.												A	3	1	46	46542318	46542318	G	A	1	0	0	0	0	1	0	0	0	661	1058	37	1		1	AMBRA1	11	46542318	Missense_Mutation	SNP	G	C3N-00294_TP	187	46542318	88544304	777	14279			1	12		4	4	1132	G		1.61909e-05
AMBRA1	0	.	GRCh38	chr11	46542783	46542783	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcagatcctgtcaacccagGagctatttctcggtgatacc	9	11	8	13	1	3	2	2	1	1	1	5	3	4	3	3	2	3	1	3	2	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1234C>G	p.Pro412Ala	p.P412A	ENST00000534300	7/17	395	323	72	462	462	0	strelka-varscan-mutect	AMBRA1,missense_variant,p.Pro412Ala,ENST00000458649,;AMBRA1,missense_variant,p.Pro412Ala,ENST00000534300,NM_001300731.1;AMBRA1,missense_variant,p.Pro322Ala,ENST00000314845,NM_017749.3,NM_001267782.1;AMBRA1,missense_variant,p.Pro322Ala,ENST00000533727,NM_001267783.1;AMBRA1,missense_variant,p.Pro412Ala,ENST00000528950,;AMBRA1,downstream_gene_variant,,ENST00000531542,;AMBRA1,downstream_gene_variant,,ENST00000524783,;	C	ENST00000534300	Transcript	missense_variant	1548/5067	1234/3717	412/1238	P/A	Cct/Gct		1		-1	AMBRA1	HGNC	HGNC:25990	protein_coding	YES	CCDS73281.1	ENSP00000431926	Q9C0C7		UPI00005A6107	NM_001300731.1	deleterious_low_confidence(0.03)		7/17		hmmpanther:PTHR22874,hmmpanther:PTHR22874:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	46542783	46542783	G	C	1	0	0	0	0	1	0	0	0	661	1174	41	4		4	AMBRA1	11	46542783	Missense_Mutation	SNP	G	C3N-00294_TP	465	46542783	88543839	778	14280			1	12		4	4	1132	G		1.61909e-05
AMBRA1	0	.	GRCh38	chr11	46543262	46543262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctcccacctggatgccaGaagagcgggaggacagcatg	10	5	14	12	1	1	2	0	0	1	2	2	5	1	5	3	3	3	2	3	3	1	0	rs73449929		C3N-00294_TP	C3N-00294_NB	G	G																c.755C>A	p.Ser252Tyr	p.S252Y	ENST00000534300	7/17	138	112	26	155	155	0	strelka-varscan-mutect	AMBRA1,missense_variant,p.Ser252Tyr,ENST00000458649,;AMBRA1,missense_variant,p.Ser252Tyr,ENST00000534300,NM_001300731.1;AMBRA1,missense_variant,p.Ser252Tyr,ENST00000314845,NM_017749.3,NM_001267782.1;AMBRA1,missense_variant,p.Ser252Tyr,ENST00000533727,NM_001267783.1;AMBRA1,missense_variant,p.Ser252Tyr,ENST00000528950,;AMBRA1,downstream_gene_variant,,ENST00000531542,;AMBRA1,downstream_gene_variant,,ENST00000524783,;	T	ENST00000534300	Transcript	missense_variant	1069/5067	755/3717	252/1238	S/Y	tCt/tAt	rs73449929	1		-1	AMBRA1	HGNC	HGNC:25990	protein_coding	YES	CCDS73281.1	ENSP00000431926	Q9C0C7		UPI00005A6107	NM_001300731.1	deleterious_low_confidence(0)		7/17																			MODERATE	1	SNV	1			1										PASS		rs73449929	.												T	3	4	46	46543262	46543262	G	T	1	0	0	0	0	1	0	0	0	661	942	33	2		2	AMBRA1	11	46543262	Missense_Mutation	SNP	G	C3N-00294_TP	479	46543262	88543360	779	14281			1	12		4	4	1132	G		1.61909e-05
OR4A5	0	.	GRCh38	chr11	54707204	54707204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatagaccatttctttggtgGggctgaggtcttccttctgg	5	16	12	8	0	3	2	0	1	3	1	4	2	4	2	2	5	0	1	2	5	2	6	rs368103058		C3N-00294_TP	C3N-00294_NB	G	G																c.320G>T	p.Gly107Val	p.G107V	ENST00000319760	1/1	192	120	72	195	195	0	strelka-varscan-mutect	OR4A5,missense_variant,p.Gly107Val,ENST00000319760,NM_001005272.3;	T	ENST00000319760	Transcript	missense_variant	320/948	320/948	107/315	G/V	gGg/gTg	rs368103058	1		1	OR4A5	HGNC	HGNC:15162	protein_coding	YES	CCDS73289.1	ENSP00000367664	Q8NH83	A0A126GWJ2	UPI0000041D58	NM_001005272.3	deleterious_low_confidence(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF306,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs368103058	.												T	3	4	46	54707204	54707204	G	T	1	0	0	0	0	1	0	0	0	11120	1232	43	2		2	OR4A5	11	54707204	Missense_Mutation	SNP	G	C3N-00294_TP	8163942	54707204	80379418	780	14282											
OR5D18	0	.	GRCh38	chr11	55819821	55819821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccccatgtactttttcctCagccaactctcctttgtgga	7	14	5	15	0	2	0	1	0	1	0	4	1	3	1	5	1	3	1	5	1	2	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.192C>T	p.=	p.L64L	ENST00000333976	1/1	69	60	9	76	75	1	strelka-varscan-mutect	OR5D18,synonymous_variant,p.=,ENST00000333976,NM_001001952.1;	T	ENST00000333976	Transcript	synonymous_variant	192/942	192/942	64/313	L	ctC/ctT		1		1	OR5D18	HGNC	HGNC:15285	protein_coding	YES	CCDS31510.1	ENSP00000335025	Q8NGL1		UPI0000046197	NM_001001952.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	46	55819821	55819821	C	T	1	0	0	0	0	0	0	0	1	11227	813	29	3		3	OR5D18	11	55819821	Silent	SNP	C	C3N-00294_TP	1112617	55819821	79266801	781	14283											
OR8J1	0	.	GRCh38	chr11	56360482	56360482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taactctactgtcattgcccCtaaaatgctgattaactttt	11	16	4	10	0	2	1	1	1	1	0	2	1	2	1	2	0	5	1	2	0	5	7			C3N-00294_TP	C3N-00294_NB	C	C																c.236C>T	p.Pro79Leu	p.P79L	ENST00000303039	1/1	152	123	29	183	183	0	strelka-varscan-mutect	OR8J1,missense_variant,p.Pro79Leu,ENST00000303039,NM_001005205.2;RPL5P29,downstream_gene_variant,,ENST00000482972,;	T	ENST00000303039	Transcript	missense_variant	268/1074	236/951	79/316	P/L	cCt/cTt	COSM928342	1		1	OR8J1	HGNC	HGNC:14855	protein_coding	YES	CCDS31529.1	ENSP00000304060	Q8NGP2		UPI000004BE58	NM_001005205.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF317,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	46	56360482	56360482	C	T	1	0	0	0	0	1	0	0	0	11309	681	24	3		3	OR8J1	11	56360482	Missense_Mutation	SNP	C	C3N-00294_TP	540661	56360482	78726140	782	14284											
DDB1	0	.	GRCh38	chr11	61314327	61314327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgatctgccggagctcctGaggatggatctgcagatagt	8	10	13	10	1	2	3	0	2	2	1	3	6	3	6	3	3	3	2	3	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1570C>G	p.Gln524Glu	p.Q524E	ENST00000301764	13/27	106	84	22	92	92	0	strelka-varscan-mutect	DDB1,missense_variant,p.Gln524Glu,ENST00000301764,NM_001923.4;DDB1,intron_variant,,ENST00000543658,;DDB1,downstream_gene_variant,,ENST00000545930,;DDB1,downstream_gene_variant,,ENST00000538280,;DDB1,missense_variant,p.Gln524Glu,ENST00000540166,;DDB1,non_coding_transcript_exon_variant,,ENST00000535147,;DDB1,non_coding_transcript_exon_variant,,ENST00000414411,;DDB1,non_coding_transcript_exon_variant,,ENST00000539739,;DDB1,non_coding_transcript_exon_variant,,ENST00000535967,;DDB1,non_coding_transcript_exon_variant,,ENST00000537877,;DDB1,non_coding_transcript_exon_variant,,ENST00000540784,;DDB1,upstream_gene_variant,,ENST00000539332,;DDB1,downstream_gene_variant,,ENST00000535174,;	C	ENST00000301764	Transcript	missense_variant	1968/4506	1570/3423	524/1140	Q/E	Cag/Gag		1		-1	DDB1	HGNC	HGNC:2717	protein_coding	YES	CCDS31576.1	ENSP00000301764	Q16531		UPI0000000CB7	NM_001923.4	tolerated(0.15)		13/27		hmmpanther:PTHR10644,Gene3D:2.130.10.10,Pfam_domain:PF10433																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	61314327	61314327	G	C	1	0	0	0	0	1	0	0	0	4126	1299	45	4		4	DDB1	11	61314327	Missense_Mutation	SNP	G	C3N-00294_TP	4953845	61314327	73772295	783	14285											
FADS2	0	.	GRCh38	chr11	61840376	61840376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccctgaggaagacggctGaggacatgaacctgttcaag	11	6	15	9	1	1	4	1	3	0	1	1	6	1	6	2	4	1	2	2	4	3	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.361G>A	p.Glu121Lys	p.E121K	ENST00000278840	3/12	345	264	81	404	403	1	strelka-varscan-mutect	FADS2,missense_variant,p.Glu121Lys,ENST00000278840,NM_004265.3;FADS2,missense_variant,p.Glu99Lys,ENST00000257261,NM_001281501.1;FADS2,missense_variant,p.Glu121Lys,ENST00000521849,;FADS2,missense_variant,p.Glu90Lys,ENST00000522056,NM_001281502.1;FADS2,5_prime_UTR_variant,,ENST00000521571,;FADS2,5_prime_UTR_variant,,ENST00000517312,;FADS2,5_prime_UTR_variant,,ENST00000518606,;FADS2,upstream_gene_variant,,ENST00000520145,;	A	ENST00000278840	Transcript	missense_variant	991/3630	361/1335	121/444	E/K	Gag/Aag		1		1	FADS2	HGNC	HGNC:3575	protein_coding	YES	CCDS8012.1	ENSP00000278840	O95864		UPI000003405E	NM_004265.3	tolerated(0.09)		3/12		PIRSF_domain:PIRSF015921,hmmpanther:PTHR19353,hmmpanther:PTHR19353:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	61840376	61840376	G	A	1	0	0	0	0	1	0	0	0	5238	1291	45	3		3	FADS2	11	61840376	Missense_Mutation	SNP	G	C3N-00294_TP	526049	61840376	73246246	784	14286											
AHNAK	0	.	GRCh38	chr11	62527471	62527471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttaaattgaaatcaacatCaggcatggagatcttggggg	13	11	11	6	0	3	2	2	1	1	1	3	3	3	2	0	4	1	1	0	4	4	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.6946G>A	p.Asp2316Asn	p.D2316N	ENST00000378024	5/5	382	308	74	374	374	0	strelka-varscan-mutect	AHNAK,missense_variant,p.Asp2316Asn,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	T	ENST00000378024	Transcript	missense_variant	7221/18787	6946/17673	2316/5890	D/N	Gat/Aat		1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2	deleterious(0)		5/5																			MODERATE	1	SNV	2			1										PASS		rs948534799	.												T	3	4	46	62527471	62527471	C	T	1	0	0	0	0	1	0	0	0	491	826	29	3		3	AHNAK	11	62527471	Missense_Mutation	SNP	C	C3N-00294_TP	687095	62527471	72559151	785	14287											
METTL12	0	.	GRCh38	chr11	62666656	62666656	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgctgggggtggacttttctCctgtggctgtggcccacatg	3	13	15	10	0	1	0	0	0	1	0	2	1	1	1	2	5	1	2	2	5	0	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.328C>G	p.Pro110Ala	p.P110A	ENST00000532971	3/3	201	161	40	235	235	0	strelka-varscan-mutect	METTL12,missense_variant,p.Pro110Ala,ENST00000532971,NM_001043229.1;LBHD1,intron_variant,,ENST00000431002,;LBHD1,intron_variant,,ENST00000532208,;LBHD1,intron_variant,,ENST00000354588,NM_024099.3;LBHD1,intron_variant,,ENST00000415855,;UQCC3,upstream_gene_variant,,ENST00000531323,;UQCC3,upstream_gene_variant,,ENST00000377953,NM_001085372.2;C11orf98,upstream_gene_variant,,ENST00000524958,NM_001286086.1;RP11-831H9.11,upstream_gene_variant,,ENST00000528405,;LBHD1,downstream_gene_variant,,ENST00000377954,;C11orf98,upstream_gene_variant,,ENST00000525675,;LBHD1,downstream_gene_variant,,ENST00000528862,;SNORA57,downstream_gene_variant,,ENST00000383870,;METTL12,non_coding_transcript_exon_variant,,ENST00000398922,;METTL12,downstream_gene_variant,,ENST00000594728,;LBHD1,downstream_gene_variant,,ENST00000528115,;METTL12,non_coding_transcript_exon_variant,,ENST00000529868,;LBHD1,downstream_gene_variant,,ENST00000526490,;LBHD1,downstream_gene_variant,,ENST00000527679,;C11orf98,upstream_gene_variant,,ENST00000532786,;LBHD1,downstream_gene_variant,,ENST00000524759,;	G	ENST00000532971	Transcript	missense_variant	585/2037	328/723	110/240	P/A	Cct/Gct		1		1	METTL12	HGNC	HGNC:33113	protein_coding	YES	CCDS41657.1	ENSP00000431287	A8MUP2		UPI0000D4EAB2	NM_001043229.1	tolerated(0.15)		3/3		hmmpanther:PTHR12176,hmmpanther:PTHR12176:SF32,Gene3D:3.40.50.150,Pfam_domain:PF13847,Superfamily_domains:SSF53335																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	46	62666656	62666656	C	G	1	0	0	0	0	1	0	0	0	9438	855	30	4		4	METTL12	11	62666656	Missense_Mutation	SNP	C	C3N-00294_TP	139185	62666656	72419966	786	14288											
SLC22A24	0	.	GRCh38	chr11	63143531	63143531	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctgacacttctgtggcctCaggtttgagtccagtgggat	6	12	13	10	1	2	2	1	2	1	0	3	3	3	3	2	3	0	2	2	3	0	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.249G>A	p.=	p.L83L	ENST00000612278	1/10	45	36	9	33	33	0	strelka-varscan-mutect	SLC22A24,synonymous_variant,p.=,ENST00000612278,NM_001136506.2;SLC22A24,synonymous_variant,p.=,ENST00000417740,;SLC22A24,synonymous_variant,p.=,ENST00000326192,NM_173586.2;SLC22A10,intron_variant,,ENST00000525620,;	T	ENST00000612278	Transcript	synonymous_variant	691/2101	249/1659	83/552	L	ctG/ctA		1		-1	SLC22A24	HGNC	HGNC:28542	protein_coding	YES	CCDS73308.1	ENSP00000480336		A0A087WWM3	UPI000004DAF7	NM_001136506.2			1/10		hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF208																	LOW	1	SNV	5			1										PASS		rs1281477193	.												T	2	4	46	63143531	63143531	C	T	1	0	0	0	0	0	0	0	1	14718	813	29	3		3	SLC22A24	11	63143531	Silent	SNP	C	C3N-00294_TP	476875	63143531	71943091	787	14289											
SLC22A10	0	.	GRCh38	chr11	63297564	63297564	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggttttctttcagttactGagtggataaggcccaactct	8	15	10	8	0	3	1	1	1	2	0	3	2	3	2	1	3	2	2	1	3	3	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.667G>C	p.Glu223Gln	p.E223Q	ENST00000332793	4/10	130	99	31	142	141	1	strelka-varscan-mutect	SLC22A10,missense_variant,p.Glu223Gln,ENST00000332793,NM_001039752.3;SLC22A10,intron_variant,,ENST00000526800,;SLC22A10,non_coding_transcript_exon_variant,,ENST00000525620,;SLC22A10,missense_variant,p.Glu171Gln,ENST00000533483,;SLC22A10,intron_variant,,ENST00000532724,;	C	ENST00000332793	Transcript	missense_variant	669/2026	667/1626	223/541	E/Q	Gag/Cag		1		1	SLC22A10	HGNC	HGNC:18057	protein_coding	YES	CCDS41661.1	ENSP00000327569	Q63ZE4		UPI0000D62620	NM_001039752.3	deleterious(0)		4/10		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF217,Superfamily_domains:SSF103473																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	46	63297564	63297564	G	C	1	0	0	0	0	1	0	0	0	14707	1304	45	4		4	SLC22A10	11	63297564	Missense_Mutation	SNP	G	C3N-00294_TP	154033	63297564	71789058	788	14290											
RTN3	0	.	GRCh38	chr11	63681690	63681690	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatctcctcgtcgtccttCggagccgagccgtccgcgcc	3	9	10	19	7	1	0	0	0	1	0	8	2	4	1	7	1	2	0	7	1	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.54C>T	p.=	p.F18F	ENST00000377819	1/9	94	70	24	105	105	0	strelka-varscan-mutect	RTN3,synonymous_variant,p.=,ENST00000377819,NM_001265589.1;RTN3,synonymous_variant,p.=,ENST00000339997,NM_201428.2;RTN3,synonymous_variant,p.=,ENST00000540798,NM_001265590.1;RTN3,synonymous_variant,p.=,ENST00000356000,NM_201429.2;RTN3,synonymous_variant,p.=,ENST00000537981,NM_006054.3;RTN3,synonymous_variant,p.=,ENST00000341307,NM_201430.2;RTN3,synonymous_variant,p.=,ENST00000354497,NM_001265591.1;RTN3,synonymous_variant,p.=,ENST00000542238,;RTN3,synonymous_variant,p.=,ENST00000545432,;RTN3,synonymous_variant,p.=,ENST00000543552,;RTN3,non_coding_transcript_exon_variant,,ENST00000538995,;RTN3,non_coding_transcript_exon_variant,,ENST00000338850,;RTN3,synonymous_variant,p.=,ENST00000536011,;RTN3,non_coding_transcript_exon_variant,,ENST00000543123,;	T	ENST00000377819	Transcript	synonymous_variant	208/4937	54/3099	18/1032	F	ttC/ttT		1		1	RTN3	HGNC	HGNC:10469	protein_coding	YES	CCDS58141.1	ENSP00000367050	O95197		UPI00004546A2	NM_001265589.1			1/9		Low_complexity_(Seg):seg,hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF1																	LOW	1	SNV	1			1										PASS		rs1207733831	.												T	2	4	46	63681690	63681690	C	T	1	0	0	0	0	0	0	0	1	13987	883	31	1		1	RTN3	11	63681690	Silent	SNP	C	C3N-00294_TP	384126	63681690	71404932	789	14291											
VPS51	0	.	GRCh38	chr11	65096455	65096455	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atctgaacggggcgcacttcGacccggaagtttacctagac	10	8	11	12	4	1	2	0	1	1	1	2	4	1	3	2	3	2	2	2	3	4	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.205G>C	p.Asp69His	p.D69H	ENST00000279281	1/10	48	40	8	56	56	0	strelka-varscan-mutect	VPS51,missense_variant,p.Asp69His,ENST00000279281,NM_013265.3;VPS51,missense_variant,p.Asp69His,ENST00000529180,;VPS51,missense_variant,p.Asp69His,ENST00000530773,;VPS51,missense_variant,p.Asp99His,ENST00000528588,;VPS51,upstream_gene_variant,,ENST00000534557,;VPS51,upstream_gene_variant,,ENST00000526578,;VPS51,missense_variant,p.Asp69His,ENST00000534124,;VPS51,missense_variant,p.Asp69His,ENST00000533487,;VPS51,non_coding_transcript_exon_variant,,ENST00000533656,;VPS51,non_coding_transcript_exon_variant,,ENST00000528050,;	C	ENST00000279281	Transcript	missense_variant	297/2714	205/2349	69/782	D/H	Gac/Cac		1		1	VPS51	HGNC	HGNC:1172	protein_coding	YES	CCDS8093.1	ENSP00000279281	Q9UID3		UPI000006D6D8	NM_013265.3	tolerated(0.07)		1/10		Pfam_domain:PF08700,hmmpanther:PTHR15954,hmmpanther:PTHR15954:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	65096455	65096455	G	C	1	0	0	0	0	1	0	0	0	17761	1058	37	4		4	VPS51	11	65096455	Missense_Mutation	SNP	G	C3N-00294_TP	1414765	65096455	69990167	790	14292											
DPF2	0	.	GRCh38	chr11	65346051	65346051	+	Frame_Shift_Del	DEL	C	C	-																															gtgtcctgttctgactgtggCcgctcaggtactgcttcccg																								novel		C3N-00294_TP	C3N-00294_NB	C	C																c.898delC	p.Arg300AlafsTer13	p.R300Afs*13	ENST00000528416	8/11	88	53	35	104	104	0	sindel-varindel	DPF2,frameshift_variant,p.Arg300AlafsTer13,ENST00000528416,NM_006268.4;DPF2,frameshift_variant,p.Arg314AlafsTer13,ENST00000252268,;DPF2,frameshift_variant,p.Ala63LeufsTer41,ENST00000531989,;DPF2,intron_variant,,ENST00000415073,;DPF2,downstream_gene_variant,,ENST00000532264,;DPF2,downstream_gene_variant,,ENST00000530993,;DPF2,non_coding_transcript_exon_variant,,ENST00000524666,;DPF2,non_coding_transcript_exon_variant,,ENST00000532052,;DPF2,non_coding_transcript_exon_variant,,ENST00000530973,;DPF2,downstream_gene_variant,,ENST00000444314,;DPF2,downstream_gene_variant,,ENST00000532102,;DPF2,downstream_gene_variant,,ENST00000532492,;	-	ENST00000528416	Transcript	frameshift_variant	1030/2799	897/1176	299/391	G/X	ggC/gg		1		1	DPF2	HGNC	HGNC:9964	protein_coding	YES	CCDS8100.1	ENSP00000436901	Q92785	A0A024R582	UPI000000D90F	NM_006268.4			8/11		Gene3D:3.30.40.10,PROSITE_profiles:PS50016,hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF13,SMART_domains:SM00249,Superfamily_domains:SSF57903																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	46	65346051	65346051	C	-	1	0	1	0	1	0	0	0	0	4531	726	26	0		0	DPF2	11	65346051	Frame_Shift_Del	DEL	C	C3N-00294_TP	249596	65346051	69740571	791	14293	318	2									
DPF2	0	.	GRCh38	chr11	65346053	65346053	+	Missense_Mutation	SNP	G	G	T																															gtcctgttctgactgtggccGctcaggtactgcttcccgtg																										C3N-00294_TP	C3N-00294_NB	G	G																c.899G>T	p.Arg300Leu	p.R300L	ENST00000528416	8/11	97	59	38	100	99	1	strelka-mutect	DPF2,missense_variant,p.Arg300Leu,ENST00000528416,NM_006268.4;DPF2,missense_variant,p.Arg314Leu,ENST00000252268,;DPF2,missense_variant,p.Ala63Ser,ENST00000531989,;DPF2,intron_variant,,ENST00000415073,;DPF2,downstream_gene_variant,,ENST00000532264,;DPF2,downstream_gene_variant,,ENST00000530993,;DPF2,non_coding_transcript_exon_variant,,ENST00000524666,;DPF2,non_coding_transcript_exon_variant,,ENST00000532052,;DPF2,non_coding_transcript_exon_variant,,ENST00000530973,;DPF2,downstream_gene_variant,,ENST00000444314,;DPF2,downstream_gene_variant,,ENST00000532102,;DPF2,downstream_gene_variant,,ENST00000532492,;	T	ENST00000528416	Transcript	missense_variant	1032/2799	899/1176	300/391	R/L	cGc/cTc	COSM333228,COSM4434580	1		1	DPF2	HGNC	HGNC:9964	protein_coding	YES	CCDS8100.1	ENSP00000436901	Q92785	A0A024R582	UPI000000D90F	NM_006268.4	deleterious(0)		8/11		Gene3D:3.30.40.10,PROSITE_profiles:PS50016,hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF13,SMART_domains:SM00249,Superfamily_domains:SSF57903											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	46	65346053	65346053	G	T	1	0	0	0	0	1	0	0	0	4531	1101	38	1		1	DPF2	11	65346053	Missense_Mutation	SNP	G	C3N-00294_TP	2	65346053	69740569	792	14294	318	2									
SLC29A2	0	.	GRCh38	chr11	66364296	66364296	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagcagcatgaaggtgatGaagtaggcatcctgtgggaa	14	7	15	5	0	0	4	0	3	0	1	1	5	1	5	1	3	2	4	1	3	5	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1188C>T	p.=	p.F396F	ENST00000357440	11/12	220	172	48	231	231	0	strelka-varscan-mutect	SLC29A2,missense_variant,p.His352Tyr,ENST00000619145,;SLC29A2,missense_variant,p.His352Tyr,ENST00000311161,NM_001300869.1;SLC29A2,synonymous_variant,p.=,ENST00000357440,NM_001532.2;SLC29A2,synonymous_variant,p.=,ENST00000546034,;SLC29A2,synonymous_variant,p.=,ENST00000544554,NM_001300868.1;RP11-867G23.8,intron_variant,,ENST00000580881,;RP11-867G23.8,downstream_gene_variant,,ENST00000531602,;SLC29A2,3_prime_UTR_variant,,ENST00000540386,;SLC29A2,3_prime_UTR_variant,,ENST00000541567,;	A	ENST00000357440	Transcript	synonymous_variant	1417/2514	1188/1371	396/456	F	ttC/ttT		1		-1	SLC29A2	HGNC	HGNC:11004	protein_coding	YES	CCDS8137.1	ENSP00000350024	Q14542		UPI000013F0E7	NM_001532.2			11/12		Transmembrane_helices:TMhelix,hmmpanther:PTHR10332:SF8,hmmpanther:PTHR10332,TIGRFAM_domain:TIGR00939,Pfam_domain:PF01733,PIRSF_domain:PIRSF016379,Superfamily_domains:SSF103473,Prints_domain:PR01130																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	66364296	66364296	G	A	1	0	0	0	0	0	0	0	1	14805	1290	45	3		3	SLC29A2	11	66364296	Silent	SNP	G	C3N-00294_TP	1018243	66364296	68722326	793	14295											
BBS1	0	.	GRCh38	chr11	66514538	66514538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcctcatggagcaacatGagccccggaccccagctctg	8	7	9	17	1	2	1	1	1	1	0	3	3	3	3	6	2	4	2	6	2	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.403G>A	p.Glu135Lys	p.E135K	ENST00000419755	4/17	331	263	68	380	380	0	strelka-varscan-mutect	CTD-3074O7.11,missense_variant,p.Glu135Lys,ENST00000419755,;BBS1,missense_variant,p.Glu98Lys,ENST00000318312,NM_024649.4;BBS1,missense_variant,p.Glu98Lys,ENST00000393994,;BBS1,missense_variant,p.Glu98Lys,ENST00000455748,;BBS1,missense_variant,p.Glu5Lys,ENST00000524705,;BBS1,stop_retained_variant,p.=,ENST00000630659,;BBS1,intron_variant,,ENST00000525809,;DPP3,downstream_gene_variant,,ENST00000532677,;DPP3,downstream_gene_variant,,ENST00000531863,;DPP3,downstream_gene_variant,,ENST00000541961,NM_130443.3,NM_005700.4;BBS1,downstream_gene_variant,,ENST00000526815,;BBS1,non_coding_transcript_exon_variant,,ENST00000529766,;BBS1,upstream_gene_variant,,ENST00000529953,;BBS1,missense_variant,p.Glu98Lys,ENST00000533644,;BBS1,stop_retained_variant,p.=,ENST00000526760,;BBS1,stop_retained_variant,p.=,ENST00000533557,;BBS1,stop_retained_variant,p.=,ENST00000527251,;BBS1,stop_retained_variant,p.=,ENST00000532908,;BBS1,stop_retained_variant,p.=,ENST00000524458,;BBS1,stop_retained_variant,p.=,ENST00000526035,;BBS1,non_coding_transcript_exon_variant,,ENST00000529955,;BBS1,non_coding_transcript_exon_variant,,ENST00000533430,;BBS1,non_coding_transcript_exon_variant,,ENST00000524907,;BBS1,non_coding_transcript_exon_variant,,ENST00000534730,;BBS1,upstream_gene_variant,,ENST00000528543,;	A	ENST00000419755	Transcript	missense_variant	481/3547	403/1893	135/630	E/K	Gag/Aag		1		1	CTD-3074O7.11	Clone_based_vega_gene		protein_coding	YES		ENSP00000398526			UPI000006E494		deleterious(0.05)		4/17		hmmpanther:PTHR20870,hmmpanther:PTHR20870:SF0,Pfam_domain:PF14779																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	46	66514538	66514538	G	A	1	0	0	0	0	1	0	0	0	1482	1294	45	3		3	BBS1	11	66514538	Missense_Mutation	SNP	G	C3N-00294_TP	150242	66514538	68572084	794	14296											
SYT12	0	.	GRCh38	chr11	67048611	67048611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctccgcgtgacggtggctGagagcagcagcgacggccgt	6	6	16	13	6	1	2	0	2	1	1	2	4	1	2	2	3	3	3	2	3	0	0			C3N-00294_TP	C3N-00294_NB	G	G																c.1120G>C	p.Glu374Gln	p.E374Q	ENST00000393946	11/11	118	94	24	108	108	0	strelka-varscan-mutect	SYT12,missense_variant,p.Glu374Gln,ENST00000393946,;SYT12,missense_variant,p.Glu374Gln,ENST00000525457,NM_001177880.1;SYT12,missense_variant,p.Glu374Gln,ENST00000527043,NM_177963.3;MIR6860,downstream_gene_variant,,ENST00000635882,;	C	ENST00000393946	Transcript	missense_variant	2282/4534	1120/1266	374/421	E/Q	Gag/Cag	COSM415790	1		1	SYT12	HGNC	HGNC:18381	protein_coding	YES	CCDS8154.1	ENSP00000377520	Q8IV01		UPI00000746CD		tolerated(0.08)		11/11		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF252,SMART_domains:SM00239,Superfamily_domains:SSF49562											1						MODERATE	1	SNV	2		1	1										PASS		rs1026692384	.												C	3	2	46	67048611	67048611	G	C	1	0	0	0	0	1	0	0	0	15862	1291	45	4		4	SYT12	11	67048611	Missense_Mutation	SNP	G	C3N-00294_TP	534073	67048611	68038011	795	14297											
CLCF1	0	.	GRCh38	chr11	67365447	67365447	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctcagcagtggcagcctGacggttgaggccacgcaagt	9	6	14	12	2	1	2	1	2	0	0	1	2	1	2	2	3	3	5	2	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.367C>T	p.Gln123Ter	p.Q123*	ENST00000312438	3/3	133	117	16	161	161	0	strelka-varscan-mutect	CLCF1,stop_gained,p.Gln123Ter,ENST00000312438,NM_013246.2;CLCF1,stop_gained,p.Gln113Ter,ENST00000533438,NM_001166212.1;AP003419.11,intron_variant,,ENST00000543494,;RN7SKP239,downstream_gene_variant,,ENST00000364814,;RAD9A,intron_variant,,ENST00000622583,;	A	ENST00000312438	Transcript	stop_gained	565/1844	367/678	123/225	Q/*	Cag/Tag		1		-1	CLCF1	HGNC	HGNC:17412	protein_coding	YES	CCDS31617.1	ENSP00000309338	Q9UBD9		UPI000003F7F1	NM_013246.2			3/3		Gene3D:1.20.1250.10,Pfam_domain:PF06875,hmmpanther:PTHR21353,hmmpanther:PTHR21353:SF7,Superfamily_domains:SSF47266																	HIGH	1	SNV	1			1										PASS		rs1363278334	.												A	4	1	46	67365447	67365447	G	A	1	0	0	0	0	0	1	0	0	3225	1299	45	3		3	CLCF1	11	67365447	Nonsense_Mutation	SNP	G	C3N-00294_TP	316836	67365447	67721175	796	14298											
CORO1B	0	.	GRCh38	chr11	67438865	67438865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgaggatcgggtcggcatCccgcccgctcacccactcct	6	7	11	17	4	1	1	1	1	0	0	5	3	3	2	4	3	0	2	4	3	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1150G>A	p.Asp384Asn	p.D384N	ENST00000393893	11/12	178	146	32	207	207	0	strelka-varscan-mutect	CORO1B,missense_variant,p.Asp384Asn,ENST00000393893,NM_001018070.2;CORO1B,missense_variant,p.Asp384Asn,ENST00000341356,NM_020441.2;RPS6KB2,downstream_gene_variant,,ENST00000312629,NM_003952.2;PTPRCAP,upstream_gene_variant,,ENST00000326294,NM_005608.2;CORO1B,downstream_gene_variant,,ENST00000627576,;CORO1B,downstream_gene_variant,,ENST00000545016,;AP003419.16,upstream_gene_variant,,ENST00000535922,;CORO1B,non_coding_transcript_exon_variant,,ENST00000539724,;CORO1B,3_prime_UTR_variant,,ENST00000616321,;CORO1B,3_prime_UTR_variant,,ENST00000537042,;RPS6KB2,downstream_gene_variant,,ENST00000525088,;RPS6KB2,downstream_gene_variant,,ENST00000528964,;CORO1B,downstream_gene_variant,,ENST00000453768,;CORO1B,downstream_gene_variant,,ENST00000545736,;RPS6KB2,downstream_gene_variant,,ENST00000525996,;RPS6KB2,downstream_gene_variant,,ENST00000526268,;RPS6KB2,downstream_gene_variant,,ENST00000531765,;CORO1B,downstream_gene_variant,,ENST00000539970,;	T	ENST00000393893	Transcript	missense_variant	1283/1931	1150/1470	384/489	D/N	Gat/Aat		1		-1	CORO1B	HGNC	HGNC:2253	protein_coding	YES	CCDS8164.1	ENSP00000377471	Q9BR76	A0A024R5K1	UPI0000127C42	NM_001018070.2	tolerated(0.83)		11/12		hmmpanther:PTHR10856,Pfam_domain:PF16300,SMART_domains:SM01167																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	46	67438865	67438865	C	T	1	0	0	0	0	1	0	0	0	3548	855	30	3		3	CORO1B	11	67438865	Missense_Mutation	SNP	C	C3N-00294_TP	73418	67438865	67647757	797	14299											
SHANK2	0	.	GRCh38	chr11	71113353	71113353	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttgtttatacacccgcttCttgtatcgaaactggcacag	9	13	8	11	2	1	0	0	0	1	0	2	1	1	0	1	1	2	5	1	1	4	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.423G>A	p.=	p.K141K	ENST00000601538	4/25	217	189	28	211	211	0	strelka-varscan-mutect	SHANK2,synonymous_variant,p.=,ENST00000601538,NM_012309.4;SHANK2,missense_variant,p.Glu123Lys,ENST00000608988,;	T	ENST00000601538	Transcript	synonymous_variant	501/9062	423/5550	141/1849	K	aaG/aaA		1		-1	SHANK2	HGNC	HGNC:14295	protein_coding			ENSP00000469689	Q9UPX8		UPI000198F7E3	NM_012309.4			4/25		hmmpanther:PTHR24135:SF17,hmmpanther:PTHR24135																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	46	71113353	71113353	C	T	1	0	0	0	0	0	0	0	1	14524	912	32	3		3	SHANK2	11	71113353	Silent	SNP	C	C3N-00294_TP	3674488	71113353	63973269	798	14300											
NADSYN1	0	.	GRCh38	chr11	71490849	71490849	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctctccctgcagtctcCtgggctacctgaccaagtac	6	10	7	18	0	2	1	0	1	2	0	5	1	3	1	5	1	3	3	5	1	3	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1567C>T	p.=	p.L523L	ENST00000319023	17/21	115	87	28	126	126	0	strelka-varscan-mutect	NADSYN1,synonymous_variant,p.=,ENST00000319023,NM_018161.4;NADSYN1,synonymous_variant,p.=,ENST00000530055,;NADSYN1,non_coding_transcript_exon_variant,,ENST00000526039,;NADSYN1,3_prime_UTR_variant,,ENST00000525200,;NADSYN1,non_coding_transcript_exon_variant,,ENST00000531236,;	T	ENST00000319023	Transcript	synonymous_variant	1755/2773	1567/2121	523/706	L	Ctg/Ttg		1		1	NADSYN1	HGNC	HGNC:29832	protein_coding	YES	CCDS8201.1	ENSP00000326424	Q6IA69		UPI00001404C2	NM_018161.4			17/21		hmmpanther:PTHR23090:SF9,hmmpanther:PTHR23090,PIRSF_domain:PIRSF006630,Gene3D:3.40.50.620,Pfam_domain:PF02540,TIGRFAM_domain:TIGR00552,Superfamily_domains:SSF52402																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	71490849	71490849	C	T	1	0	0	0	0	0	0	0	1	10145	695	24	3		3	NADSYN1	11	71490849	Silent	SNP	C	C3N-00294_TP	377496	71490849	63595773	799	14301											
OR2AT4	0	.	GRCh38	chr11	75089321	75089321	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtagtgcagtgggtggcaGatagccacatagcggtcata	10	8	16	7	1	1	1	1	0	0	1	1	1	1	1	1	4	3	3	1	4	4	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.393C>G	p.Ile131Met	p.I131M	ENST00000305159	1/1	173	142	31	177	177	0	strelka-varscan-mutect	OR2AT4,missense_variant,p.Ile131Met,ENST00000305159,NM_001005285.1;	C	ENST00000305159	Transcript	missense_variant	434/1042	393/963	131/320	I/M	atC/atG		1		-1	OR2AT4	HGNC	HGNC:19620	protein_coding	YES	CCDS31639.1	ENSP00000304846	A6NND4	A0A126GWB1	UPI0000061FA5	NM_001005285.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF15,hmmpanther:PTHR26451,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	46	75089321	75089321	G	C	1	0	0	0	0	1	0	0	0	11066	932	33	4		4	OR2AT4	11	75089321	Missense_Mutation	SNP	G	C3N-00294_TP	3598472	75089321	59997301	800	14302											
MYO7A	0	.	GRCh38	chr11	77182581	77182581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacaagagggagctgcaggCcctgcagggcgagggcgagg	9	3	20	9	2	0	1	0	0	0	1	0	4	0	2	1	5	4	4	1	5	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3266C>A	p.Ala1089Asp	p.A1089D	ENST00000409709	25/49	125	59	66	140	140	0	strelka-varscan-mutect	MYO7A,missense_variant,p.Ala1089Asp,ENST00000409709,NM_000260.3;MYO7A,missense_variant,p.Ala1089Asp,ENST00000458637,NM_001127180.1;MYO7A,missense_variant,p.Ala1078Asp,ENST00000409619,;MYO7A,missense_variant,p.Ala270Asp,ENST00000458169,;MYO7A,missense_variant,p.Ala1089Asp,ENST00000409893,NM_001127179.2;MYO7A,missense_variant,p.Ala1089Asp,ENST00000620575,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;MYO7A,upstream_gene_variant,,ENST00000467137,;	A	ENST00000409709	Transcript	missense_variant	3538/7462	3266/6648	1089/2215	A/D	gCc/gAc		1		1	MYO7A	HGNC	HGNC:7606	protein_coding	YES	CCDS53683.1	ENSP00000386331	Q13402		UPI00001FAFE6	NM_000260.3	tolerated(0.55)		25/49		PROSITE_profiles:PS51016,hmmpanther:PTHR13140:SF369,hmmpanther:PTHR13140,SMART_domains:SM00139																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	77182581	77182581	C	A	1	0	0	0	0	1	0	0	0	10083	739	26	2		2	MYO7A	11	77182581	Missense_Mutation	SNP	C	C3N-00294_TP	2093260	77182581	57904041	801	14303											
PAK1	0	.	GRCh38	chr11	77358974	77358974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcatcatcctcatcttctGaaactggtggcactgcagga	10	11	8	12	0	5	1	3	1	2	0	6	2	6	2	1	3	2	2	1	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.521C>T	p.Ser174Leu	p.S174L	ENST00000278568	6/16	223	180	43	191	191	0	strelka-varscan-mutect	PAK1,missense_variant,p.Ser174Leu,ENST00000356341,NM_002576.4;PAK1,missense_variant,p.Ser174Leu,ENST00000530617,;PAK1,missense_variant,p.Ser174Leu,ENST00000278568,NM_001128620.1;PAK1,missense_variant,p.Ser76Leu,ENST00000528203,;PAK1,upstream_gene_variant,,ENST00000525542,;PAK1,missense_variant,p.Ser65Leu,ENST00000527457,;PAK1,non_coding_transcript_exon_variant,,ENST00000533568,;PAK1,non_coding_transcript_exon_variant,,ENST00000533468,;PAK1,upstream_gene_variant,,ENST00000526103,;PAK1,upstream_gene_variant,,ENST00000530358,;	A	ENST00000278568	Transcript	missense_variant	1051/2543	521/1662	174/553	S/L	tCa/tTa		1		-1	PAK1	HGNC	HGNC:8590	protein_coding	YES	CCDS44687.1	ENSP00000278568	Q13153		UPI000013DB7F	NM_001128620.1	tolerated(0.09)		6/16		Low_complexity_(Seg):seg,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF232																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	46	77358974	77358974	G	A	1	0	0	0	0	1	0	0	0	11479	1294	45	3		3	PAK1	11	77358974	Missense_Mutation	SNP	G	C3N-00294_TP	176393	77358974	57727648	802	14304											
SRSF8	0	.	GRCh38	chr11	95067476	95067476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcggagctggacggacgcGagctgcgggtgcaggtggcg	5	4	23	9	6	0	0	0	0	0	0	0	4	0	3	0	7	4	3	0	7	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.250G>A	p.Glu84Lys	p.E84K	ENST00000587424	1/1	69	56	13	68	68	0	strelka-varscan-mutect	SRSF8,missense_variant,p.Glu84Lys,ENST00000587424,NM_032102.3;	A	ENST00000587424	Transcript	missense_variant	280/4028	250/849	84/282	E/K	Gag/Aag		1		1	SRSF8	HGNC	HGNC:16988	protein_coding	YES	CCDS73370.1	ENSP00000480140	Q9BRL6	A0A024R3A8	UPI0000071A48	NM_032102.3	tolerated(0.08)		1/1		PROSITE_profiles:PS50102,hmmpanther:PTHR23147,hmmpanther:PTHR23147:SF14,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	46	95067476	95067476	G	A	1	0	0	0	0	1	0	0	0	15545	1059	37	1		1	SRSF8	11	95067476	Missense_Mutation	SNP	G	C3N-00294_TP	17708502	95067476	40019146	803	14305											
MMP20	0	.	GRCh38	chr11	102606599	102606599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaaaggatgagctggagtCacagaggtcagggatggatg	12	7	17	5	0	3	2	3	1	0	1	3	6	3	6	0	5	1	1	0	5	1	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.889G>A	p.Asp297Asn	p.D297N	ENST00000260228	6/10	610	539	71	663	663	0	strelka-varscan-mutect	MMP20,missense_variant,p.Asp297Asn,ENST00000260228,NM_004771.3;RP11-817J15.2,upstream_gene_variant,,ENST00000542119,;RP11-817J15.2,upstream_gene_variant,,ENST00000544115,;MMP20,non_coding_transcript_exon_variant,,ENST00000544938,;	T	ENST00000260228	Transcript	missense_variant	902/1956	889/1452	297/483	D/N	Gac/Aac		1		-1	MMP20	HGNC	HGNC:7167	protein_coding	YES	CCDS8318.1	ENSP00000260228	O60882		UPI000013D0B3	NM_004771.3	deleterious(0.03)		6/10		PROSITE_profiles:PS51642,hmmpanther:PTHR10201:SF125,hmmpanther:PTHR10201,PIRSF_domain:PIRSF001191,Gene3D:2.110.10.10,Superfamily_domains:SSF50923																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	102606599	102606599	C	T	1	0	0	0	0	1	0	0	0	9622	826	29	3		3	MMP20	11	102606599	Missense_Mutation	SNP	C	C3N-00294_TP	7539123	102606599	32480023	804	14306											
ATM	0	.	GRCh38	chr11	108250773	108250773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgagctgtctccattactGatgatactatctcagcttct	8	16	7	10	0	3	3	1	3	3	0	5	3	3	3	1	0	4	2	1	0	3	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1308G>A	p.=	p.L436L	ENST00000278616	10/63	117	87	30	130	130	0	strelka-varscan-mutect	ATM,synonymous_variant,p.=,ENST00000278616,NM_000051.3;ATM,synonymous_variant,p.=,ENST00000452508,;ATM,synonymous_variant,p.=,ENST00000527805,;ATM,upstream_gene_variant,,ENST00000525012,;ATM,upstream_gene_variant,,ENST00000533526,;	A	ENST00000278616	Transcript	synonymous_variant	1693/13147	1308/9171	436/3056	L	ctG/ctA		1		1	ATM	HGNC	HGNC:795	protein_coding	YES	CCDS31669.1	ENSP00000278616	Q13315	A0A024R3C7	UPI000016B511	NM_000051.3			10/63		Low_complexity_(Seg):seg,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF72																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	46	108250773	108250773	G	A	1	0	0	0	0	0	0	0	1	1261	1277	45	3		3	ATM	11	108250773	Silent	SNP	G	C3N-00294_TP	5644174	108250773	26835849	805	14307											
ATM	0	.	GRCh38	chr11	108317427	108317427	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccgtctatttaaaaggattgGattatgaaaataaagactgg	16	12	9	4	1	1	2	0	1	1	1	1	4	1	4	1	3	0	0	1	3	8	6	rs730881379		C3N-00294_TP	C3N-00294_NB	G	G																c.6253G>C	p.Asp2085His	p.D2085H	ENST00000278616	43/63	255	195	60	312	312	0	strelka-varscan-mutect	ATM,missense_variant,p.Asp2085His,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Asp2085His,ENST00000452508,;C11orf65,intron_variant,,ENST00000525729,;ATM,non_coding_transcript_exon_variant,,ENST00000532765,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,downstream_gene_variant,,ENST00000529588,;	C	ENST00000278616	Transcript	missense_variant	6638/13147	6253/9171	2085/3056	D/H	Gat/Cat	rs730881379	1		1	ATM	HGNC	HGNC:795	protein_coding	YES	CCDS31669.1	ENSP00000278616	Q13315	A0A024R3C7	UPI000016B511	NM_000051.3	deleterious(0.01)		43/63		PROSITE_profiles:PS51189,hmmpanther:PTHR11139:SF72,hmmpanther:PTHR11139										uncertain_significance							MODERATE	1	SNV	5		1	1										PASS		rs730881379	.												C	3	2	46	108317427	108317427	G	C	1	0	0	0	0	1	0	0	0	1261	1174	41	4		4	ATM	11	108317427	Missense_Mutation	SNP	G	C3N-00294_TP	66654	108317427	26769195	806	14308											
PIH1D2	0	.	GRCh38	chr11	112073171	112073171	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagaccttttgaggatgtctCcatgacttatgagtggtgaa	10	13	11	7	0	1	5	0	4	1	1	2	6	1	6	2	2	0	0	2	2	2	3			C3N-00294_TP	C3N-00294_NB	C	C																c.4G>C	p.Glu2Gln	p.E2Q	ENST00000280350	2/6	63	56	7	47	47	0	strelka-varscan-mutect	PIH1D2,missense_variant,p.Glu2Gln,ENST00000530641,;PIH1D2,missense_variant,p.Glu2Gln,ENST00000431456,NM_001082619.1;PIH1D2,missense_variant,p.Glu2Gln,ENST00000280350,NM_138789.3;PIH1D2,missense_variant,p.Glu2Gln,ENST00000532211,;PIH1D2,missense_variant,p.Glu2Gln,ENST00000528775,;C11orf57,upstream_gene_variant,,ENST00000532163,NM_001301019.1,NM_001301021.1;C11orf57,upstream_gene_variant,,ENST00000280352,NM_001082970.1;C11orf57,upstream_gene_variant,,ENST00000393047,NM_018195.3,NM_001082969.1;C11orf57,upstream_gene_variant,,ENST00000420986,NM_001301017.1;C11orf57,upstream_gene_variant,,ENST00000525785,;PIH1D2,upstream_gene_variant,,ENST00000525072,;C11orf57,upstream_gene_variant,,ENST00000531378,;C11orf57,upstream_gene_variant,,ENST00000526879,;PIH1D2,upstream_gene_variant,,ENST00000521853,;C11orf57,upstream_gene_variant,,ENST00000530104,;C11orf57,upstream_gene_variant,,ENST00000524989,;PIH1D2,upstream_gene_variant,,ENST00000525744,;	G	ENST00000280350	Transcript	missense_variant	227/1241	4/948	2/315	E/Q	Gag/Cag	COSM4968564	1		-1	PIH1D2	HGNC	HGNC:25210	protein_coding	YES	CCDS8355.1	ENSP00000280350	Q8WWB5		UPI000007007A	NM_138789.3	tolerated_low_confidence(0.05)		2/6		hmmpanther:PTHR22997,hmmpanther:PTHR22997:SF6											1						MODERATE		SNV	5		1	1										PASS		rs940655083	.												G	3	3	46	112073171	112073171	C	G	1	0	0	0	0	1	0	0	0	12001	869	30	4		4	PIH1D2	11	112073171	Missense_Mutation	SNP	C	C3N-00294_TP	3755744	112073171	23013451	807	14309											
TTC12	0	.	GRCh38	chr11	113344294	113344294	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaaccagcgtgtgctagtGatacaccatgacagggccag	13	6	12	10	1	0	2	0	2	0	0	0	3	0	2	3	1	4	1	3	1	4	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1008G>C	p.=	p.V336V	ENST00000529221	13/22	95	90	5	110	110	0	strelka-varscan-mutect	TTC12,synonymous_variant,p.=,ENST00000393020,;TTC12,synonymous_variant,p.=,ENST00000314756,;TTC12,synonymous_variant,p.=,ENST00000529221,NM_001318533.1,NM_017868.3;TTC12,synonymous_variant,p.=,ENST00000483239,;TTC12,downstream_gene_variant,,ENST00000525965,;TTC12,downstream_gene_variant,,ENST00000524580,;TTC12,non_coding_transcript_exon_variant,,ENST00000478125,;TTC12,synonymous_variant,p.=,ENST00000494714,;TTC12,3_prime_UTR_variant,,ENST00000464224,;TTC12,intron_variant,,ENST00000527362,;TTC12,downstream_gene_variant,,ENST00000534793,;	C	ENST00000529221	Transcript	synonymous_variant	1113/2315	1008/2118	336/705	V	gtG/gtC		1		1	TTC12	HGNC	HGNC:23700	protein_coding	YES	CCDS8360.2	ENSP00000433757	Q9H892	A8K8G6	UPI000013F914	NM_001318533.1,NM_017868.3			13/22		Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	46	113344294	113344294	G	C	1	0	0	0	0	0	0	0	1	17189	1277	45	4		4	TTC12	11	113344294	Silent	SNP	G	C3N-00294_TP	1271123	113344294	21742328	808	14310											
KMT2A	0	.	GRCh38	chr11	118505969	118505969	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacccctacaagtagtgcGtcagttccaggacacgtcac	12	7	8	14	2	2	0	2	0	0	0	3	1	3	1	3	1	3	2	3	1	4	3	rs200365395		C3N-00294_TP	C3N-00294_NB	G	G																c.10077G>T	p.=	p.A3359A	ENST00000534358	27/36	223	138	85	223	223	0	strelka-varscan-mutect	KMT2A,synonymous_variant,p.=,ENST00000534358,NM_001197104.1;KMT2A,synonymous_variant,p.=,ENST00000389506,NM_005933.3;KMT2A,downstream_gene_variant,,ENST00000528278,;KMT2A,upstream_gene_variant,,ENST00000534678,;KMT2A,upstream_gene_variant,,ENST00000534085,;	T	ENST00000534358	Transcript	synonymous_variant	10100/16602	10077/11919	3359/3972	A	gcG/gcT	rs200365395	1		1	KMT2A	HGNC	HGNC:7132	protein_coding	YES	CCDS55791.1	ENSP00000436786	Q03164		UPI0001E5E732	NM_001197104.1			27/36		Low_complexity_(Seg):seg,PIRSF_domain:PIRSF010354																	LOW	1	SNV	1			1										PASS		rs200365395	.												T	2	4	46	118505969	118505969	G	T	1	0	0	0	0	0	0	0	1	8295	1132	40	1		1	KMT2A	11	118505969	Silent	SNP	G	C3N-00294_TP	5161675	118505969	16580653	809	14311											
TREH	0	.	GRCh38	chr11	118659409	118659409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggggggcccaggcattggGgaaatcccactgctggcctg	7	6	16	12	0	0	0	0	0	0	0	1	1	1	1	3	7	1	2	3	7	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1393C>T	p.Pro465Ser	p.P465S	ENST00000264029	12/15	57	48	9	52	52	0	strelka-varscan-mutect	TREH,missense_variant,p.Pro465Ser,ENST00000264029,NM_007180.2;TREH,missense_variant,p.Pro434Ser,ENST00000397925,NM_001301065.1;PHLDB1,downstream_gene_variant,,ENST00000361417,NM_015157.3;PHLDB1,downstream_gene_variant,,ENST00000600882,NM_001144758.2;PHLDB1,downstream_gene_variant,,ENST00000356063,NM_001144759.2;PHLDB1,downstream_gene_variant,,ENST00000534140,;PHLDB1,downstream_gene_variant,,ENST00000601898,;PHLDB1,downstream_gene_variant,,ENST00000614369,;PHLDB1,downstream_gene_variant,,ENST00000527898,;PHLDB1,downstream_gene_variant,,ENST00000524713,;TREH,3_prime_UTR_variant,,ENST00000613915,;PHLDB1,downstream_gene_variant,,ENST00000530994,;PHLDB1,downstream_gene_variant,,ENST00000620788,;PHLDB1,downstream_gene_variant,,ENST00000528594,;PHLDB1,downstream_gene_variant,,ENST00000532517,;PHLDB1,downstream_gene_variant,,ENST00000526537,;TREH,downstream_gene_variant,,ENST00000531295,;TREH,downstream_gene_variant,,ENST00000527558,;	A	ENST00000264029	Transcript	missense_variant	1439/2771	1393/1752	465/583	P/S	Ccc/Tcc		1		-1	TREH	HGNC	HGNC:12266	protein_coding	YES	CCDS73402.1	ENSP00000264029	O43280		UPI000013D4A6	NM_007180.2	deleterious(0)		12/15		Pfam_domain:PF01204,Prints_domain:PR00744,PROSITE_patterns:PS00928,hmmpanther:PTHR23403,hmmpanther:PTHR23403:SF1,Superfamily_domains:SSF48208																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	118659409	118659409	G	A	1	0	0	0	0	1	0	0	0	16958	1232	43	3		3	TREH	11	118659409	Missense_Mutation	SNP	G	C3N-00294_TP	153440	118659409	16427213	810	14312											
HYOU1	0	.	GRCh38	chr11	119048856	119048856	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggggctggagcgacgccctCaggccctgcctctgccttct	3	9	13	16	2	3	0	1	0	2	0	3	2	3	1	4	4	3	1	4	4	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2023G>C	p.Glu675Gln	p.E675Q	ENST00000617285	18/26	65	48	17	74	74	0	strelka-varscan-mutect	HYOU1,missense_variant,p.Glu675Gln,ENST00000617285,NM_001130991.2,NM_006389.4;HYOU1,missense_variant,p.Glu613Gln,ENST00000612687,;HYOU1,missense_variant,p.Glu613Gln,ENST00000621959,;HYOU1,intron_variant,,ENST00000614711,;HYOU1,intron_variant,,ENST00000532519,;HYOU1,intron_variant,,ENST00000614668,;HYOU1,downstream_gene_variant,,ENST00000530473,;RP11-110I1.6,downstream_gene_variant,,ENST00000531886,;HYOU1,3_prime_UTR_variant,,ENST00000543287,;HYOU1,downstream_gene_variant,,ENST00000531694,;HYOU1,upstream_gene_variant,,ENST00000527738,;HYOU1,upstream_gene_variant,,ENST00000531682,;	G	ENST00000617285	Transcript	missense_variant	2148/4529	2023/3000	675/999	E/Q	Gag/Cag		1		-1	HYOU1	HGNC	HGNC:16931	protein_coding	YES	CCDS8408.1	ENSP00000480150	Q9Y4L1		UPI0000130F72	NM_001130991.2,NM_006389.4	tolerated(0.14)		18/26		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	119048856	119048856	C	G	1	0	0	0	0	1	0	0	0	7367	835	29	4		4	HYOU1	11	119048856	Missense_Mutation	SNP	C	C3N-00294_TP	389447	119048856	16037766	811	14313											
SORL1	0	.	GRCh38	chr11	121589357	121589357	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagtgcgacgggatggatGattgcggcgattattctgat	9	11	16	5	4	1	2	0	2	1	0	1	7	1	5	0	4	2	0	0	4	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4045G>C	p.Asp1349His	p.D1349H	ENST00000260197	29/48	172	141	31	175	175	0	strelka-varscan-mutect	SORL1,missense_variant,p.Asp1349His,ENST00000260197,NM_003105.5;SORL1,missense_variant,p.Asp293His,ENST00000525532,;SORL1,missense_variant,p.Asp195His,ENST00000532694,;SORL1,missense_variant,p.Asp259His,ENST00000534286,;SORL1,upstream_gene_variant,,ENST00000527934,;	C	ENST00000260197	Transcript	missense_variant	4174/10904	4045/6645	1349/2214	D/H	Gat/Cat		1		1	SORL1	HGNC	HGNC:11185	protein_coding	YES	CCDS8436.1	ENSP00000260197	Q92673		UPI000013D0B1	NM_003105.5	deleterious(0)		29/48		Gene3D:4.10.400.10,Pfam_domain:PF00057,Prints_domain:PR00261,PROSITE_patterns:PS01209,PROSITE_profiles:PS50068,SMART_domains:SM00192,Superfamily_domains:SSF57424																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	121589357	121589357	G	C	1	0	0	0	0	1	0	0	0	15256	1290	45	4		4	SORL1	11	121589357	Missense_Mutation	SNP	G	C3N-00294_TP	2540501	121589357	13497265	812	14314											
OR4D5	0	.	GRCh38	chr11	123939671	123939671	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttctactggggctctctCaggtttgggagcttcggttt	3	17	13	8	1	3	0	1	0	2	0	5	1	3	1	0	5	2	5	0	5	1	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.55C>A	p.Gln19Lys	p.Q19K	ENST00000307033	1/1	39	30	9	50	50	0	strelka-varscan-mutect	OR4D5,missense_variant,p.Gln19Lys,ENST00000307033,NM_001001965.1;OR6T1,downstream_gene_variant,,ENST00000321252,NM_001005187.1;	A	ENST00000307033	Transcript	missense_variant	129/1095	55/957	19/318	Q/K	Cag/Aag		1		1	OR4D5	HGNC	HGNC:14852	protein_coding	YES	CCDS31699.1	ENSP00000305970	Q8NGN0	A0A126GVD9	UPI000003F227	NM_001001965.1	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF73,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	46	123939671	123939671	C	A	1	0	0	0	0	1	0	0	0	11134	827	29	2		2	OR4D5	11	123939671	Missense_Mutation	SNP	C	C3N-00294_TP	2350314	123939671	11146951	813	14315											
OR10G8	0	.	GRCh38	chr11	124030427	124030427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccaggaaagctgtggatGgagttgtggccgttttctac	7	12	14	8	1	1	0	0	0	1	0	2	3	2	3	2	4	2	4	2	4	2	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.805G>A	p.Gly269Arg	p.G269R	ENST00000431524	1/1	179	147	32	155	155	0	strelka-varscan-mutect	OR10G8,missense_variant,p.Gly269Arg,ENST00000431524,NM_001004464.1;	A	ENST00000431524	Transcript	missense_variant	838/1045	805/936	269/311	G/R	Gga/Aga		1		1	OR10G8	HGNC	HGNC:14845	protein_coding	YES	CCDS31704.1	ENSP00000389072	Q8NGN5	A0A126GVX3	UPI0000040A8F	NM_001004464.1	tolerated(0.18)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF146,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	46	124030427	124030427	G	A	1	0	0	0	0	1	0	0	0	10980	1349	47	3		3	OR10G8	11	124030427	Missense_Mutation	SNP	G	C3N-00294_TP	90756	124030427	11056195	814	14316											
OR8G1	0	.	GRCh38	chr11	124249915	124249915	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccactgtcattacccctaaGatgctggtgaactttgtgac	9	13	8	11	0	1	3	1	2	0	1	2	3	2	3	3	1	3	1	3	1	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.240G>C	p.Lys80Asn	p.K80N	ENST00000341493	1/1	305	241	64	295	295	0	strelka-varscan-mutect	OR8G1,missense_variant,p.Lys80Asn,ENST00000341493,NM_001002905.1;	C	ENST00000341493	Transcript	missense_variant	240/936	240/936	80/311	K/N	aaG/aaC		1		1	OR8G1	HGNC	HGNC:8484	protein_coding	YES	CCDS73407.1	ENSP00000476313	Q15617	A0A126GVX6	UPI0000061EA7	NM_001002905.1	deleterious_low_confidence(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF73,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	46	124249915	124249915	G	C	1	0	0	0	0	1	0	0	0	11303	933	33	4		4	OR8G1	11	124249915	Missense_Mutation	SNP	G	C3N-00294_TP	219488	124249915	10836707	815	14317											
NRGN	0	.	GRCh38	chr11	124745554	124745554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctagacatcccgctggacGatcccggcgccaacgcggcc	7	6	11	17	6	1	1	0	0	1	1	3	3	3	2	4	3	1	1	4	3	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.67G>A	p.Asp23Asn	p.D23N	ENST00000284292	2/4	106	88	18	126	126	0	strelka-varscan-mutect	NRGN,missense_variant,p.Asp23Asn,ENST00000284292,NM_006176.2,NM_001126181.1;NRGN,missense_variant,p.Asp23Asn,ENST00000412681,;VSIG2,downstream_gene_variant,,ENST00000403470,;VSIG2,downstream_gene_variant,,ENST00000326621,NM_014312.3;RP11-677M14.2,intron_variant,,ENST00000531241,;	A	ENST00000284292	Transcript	missense_variant	306/1306	67/237	23/78	D/N	Gat/Aat		1		1	NRGN	HGNC	HGNC:8000	protein_coding	YES	CCDS8451.1	ENSP00000284292	Q92686	A0A024R3M7	UPI0000054C7E	NM_006176.2,NM_001126181.1	deleterious(0)		2/4		hmmpanther:PTHR10699,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	124745554	124745554	G	A	1	0	0	0	0	1	0	0	0	10709	1058	37	1		1	NRGN	11	124745554	Missense_Mutation	SNP	G	C3N-00294_TP	495639	124745554	10341068	816	14318											
ROBO3	0	.	GRCh38	chr11	124879220	124879220	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgggccgagttcccctctCagtgtatcccagcccatgct	5	11	9	16	1	1	0	1	0	1	0	4	1	3	0	5	1	2	3	5	1	1	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3564C>T	p.=	p.L1188L	ENST00000397801	24/28	111	82	29	124	124	0	strelka-varscan-mutect	ROBO3,synonymous_variant,p.=,ENST00000397801,NM_022370.3;ROBO3,synonymous_variant,p.=,ENST00000538940,;ROBO3,5_prime_UTR_variant,,ENST00000543966,;ROBO4,downstream_gene_variant,,ENST00000306534,NM_019055.5;RP11-664I21.5,upstream_gene_variant,,ENST00000524453,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525482,;ROBO3,non_coding_transcript_exon_variant,,ENST00000528820,;ROBO3,non_coding_transcript_exon_variant,,ENST00000528144,;ROBO3,non_coding_transcript_exon_variant,,ENST00000531075,;ROBO3,downstream_gene_variant,,ENST00000526551,;ROBO3,downstream_gene_variant,,ENST00000532472,;ROBO3,downstream_gene_variant,,ENST00000531545,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527245,;ROBO3,non_coding_transcript_exon_variant,,ENST00000529658,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525448,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527196,;ROBO3,non_coding_transcript_exon_variant,,ENST00000524971,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525304,;ROBO4,downstream_gene_variant,,ENST00000534407,;ROBO3,downstream_gene_variant,,ENST00000534598,;ROBO3,downstream_gene_variant,,ENST00000528068,;ROBO3,downstream_gene_variant,,ENST00000531888,;ROBO3,downstream_gene_variant,,ENST00000530647,;ROBO3,downstream_gene_variant,,ENST00000531119,;	T	ENST00000397801	Transcript	synonymous_variant	3756/4569	3564/4161	1188/1386	L	ctC/ctT		1		1	ROBO3	HGNC	HGNC:13433	protein_coding	YES	CCDS44755.1	ENSP00000380903	Q96MS0		UPI000035AA82	NM_022370.3			24/28		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF724,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	124879220	124879220	C	T	1	0	0	0	0	0	0	0	1	13693	813	29	3		3	ROBO3	11	124879220	Silent	SNP	C	C3N-00294_TP	133666	124879220	10207402	817	14319											
KCNJ5	0	.	GRCh38	chr11	128911495	128911495	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggagacctaccggtacctGagtgacctcttcaccaccct	9	8	8	16	1	2	3	1	2	1	1	2	4	2	3	6	2	2	1	6	2	2	3			C3N-00294_TP	C3N-00294_NB	G	G																c.222G>C	p.=	p.L74L	ENST00000529694	2/3	397	319	78	496	496	0	strelka-varscan-mutect	KCNJ5,synonymous_variant,p.=,ENST00000529694,NM_000890.3;KCNJ5,synonymous_variant,p.=,ENST00000338350,;KCNJ5,synonymous_variant,p.=,ENST00000533599,;	C	ENST00000529694	Transcript	synonymous_variant	598/5940	222/1260	74/419	L	ctG/ctC	COSM415273	1		1	KCNJ5	HGNC	HGNC:6266	protein_coding	YES	CCDS8479.1	ENSP00000433295	P48544		UPI000013D428	NM_000890.3			2/3		hmmpanther:PTHR11767:SF52,hmmpanther:PTHR11767,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81324											1						LOW	1	SNV	1		1	1										PASS		.	.												C	2	2	46	128911495	128911495	G	C	1	0	0	0	0	0	0	0	1	7971	1277	45	4		4	KCNJ5	11	128911495	Silent	SNP	G	C3N-00294_TP	4032275	128911495	6175127	818	14320											
ACAD8	0	.	GRCh38	chr11	134258618	134258618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcttcctactgcctcactGaaccaggtgaatttgccaca	9	12	7	13	0	1	2	1	2	0	0	2	2	2	2	4	1	5	1	4	1	3	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.484G>A	p.Glu162Lys	p.E162K	ENST00000281182	4/11	356	291	65	404	404	0	strelka-varscan-mutect	ACAD8,missense_variant,p.Glu162Lys,ENST00000281182,NM_014384.2;ACAD8,intron_variant,,ENST00000374752,;ACAD8,intron_variant,,ENST00000524547,;ACAD8,upstream_gene_variant,,ENST00000524502,;ACAD8,3_prime_UTR_variant,,ENST00000526026,;ACAD8,3_prime_UTR_variant,,ENST00000524426,;ACAD8,non_coding_transcript_exon_variant,,ENST00000531338,;ACAD8,non_coding_transcript_exon_variant,,ENST00000533387,;ACAD8,non_coding_transcript_exon_variant,,ENST00000527665,;ACAD8,non_coding_transcript_exon_variant,,ENST00000530533,;ACAD8,non_coding_transcript_exon_variant,,ENST00000527082,;ACAD8,non_coding_transcript_exon_variant,,ENST00000528325,;ACAD8,non_coding_transcript_exon_variant,,ENST00000534240,;ACAD8,intron_variant,,ENST00000534433,;ACAD8,upstream_gene_variant,,ENST00000524739,;ACAD8,downstream_gene_variant,,ENST00000525961,;ACAD8,upstream_gene_variant,,ENST00000527713,;	A	ENST00000281182	Transcript	missense_variant	590/2249	484/1248	162/415	E/K	Gaa/Aaa		1		1	ACAD8	HGNC	HGNC:87	protein_coding	YES	CCDS8498.1	ENSP00000281182	Q9UKU7		UPI00001251DD	NM_014384.2	deleterious(0)		4/11		hmmpanther:PTHR10909:SF145,hmmpanther:PTHR10909,PROSITE_patterns:PS00072,Pfam_domain:PF02770,Gene3D:2.40.110.10,Superfamily_domains:SSF56645																	MODERATE	1	SNV	1			1										PASS		rs1331422944	.												A	3	1	46	134258618	134258618	G	A	1	0	0	0	0	1	0	0	0	153	1291	45	3		3	ACAD8	11	134258618	Missense_Mutation	SNP	G	C3N-00294_TP	5347123	134258618	828004	819	14321											
CACNA2D4	0	.	GRCh38	chr12	1793722	1793722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagtaggggcggcgaggctGaggtgtccgaggcgccgccg	5	4	22	10	6	0	1	0	1	0	0	1	4	1	2	3	7	0	2	3	7	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3347C>T	p.Ser1116Leu	p.S1116L	ENST00000382722	38/38	181	137	44	230	230	0	strelka-varscan-mutect	CACNA2D4,missense_variant,p.Ser1116Leu,ENST00000382722,NM_172364.4;CACNA2D4,missense_variant,p.Ser1091Leu,ENST00000587995,;CACNA2D4,missense_variant,p.Ser1052Leu,ENST00000588077,;CACNA2D4,missense_variant,p.Ser246Leu,ENST00000538450,;CACNA2D4,missense_variant,p.Ser261Leu,ENST00000538027,;CACNA2D4,missense_variant,p.Ser263Leu,ENST00000536846,;CACNA2D4,downstream_gene_variant,,ENST00000586184,;CACNA2D4,downstream_gene_variant,,ENST00000585708,;CACNA2D4,3_prime_UTR_variant,,ENST00000444595,;CACNA2D4,3_prime_UTR_variant,,ENST00000537784,;CACNA2D4,3_prime_UTR_variant,,ENST00000545595,;CACNA2D4,3_prime_UTR_variant,,ENST00000585385,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000541444,;CACNA2D4,downstream_gene_variant,,ENST00000543405,;CACNA2D4,downstream_gene_variant,,ENST00000537923,;CACNA2D4,downstream_gene_variant,,ENST00000536818,;CACNA2D4,downstream_gene_variant,,ENST00000588896,;	A	ENST00000382722	Transcript	missense_variant	3710/5475	3347/3414	1116/1137	S/L	tCa/tTa		1		-1	CACNA2D4	HGNC	HGNC:20202	protein_coding	YES	CCDS44785.1	ENSP00000372169	Q7Z3S7		UPI0000E593D9	NM_172364.4	tolerated(0.19)		38/38		hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF26																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	1793722	1793722	G	A	1	0	0	0	0	1	0	0	0	2239	1294	45	3		3	CACNA2D4	12	1793722	Missense_Mutation	SNP	G	C3N-00294_TP		1793722	131481587	820	14322											
CACNA1C	0	.	GRCh38	chr12	2682610	2682610	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggagacgtctcaggatgaGacctatgaagtgaagatgaa	15	7	14	5	1	1	6	1	4	1	3	2	10	1	7	1	2	0	0	1	2	4	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.5649G>C	p.Glu1883Asp	p.E1883D	ENST00000347598	45/49	232	195	37	221	221	0	strelka-varscan-mutect	CACNA1C,missense_variant,p.Glu1835Asp,ENST00000399655,NM_000719.6;CACNA1C,missense_variant,p.Glu1906Asp,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Glu1906Asp,ENST00000406454,;CACNA1C,missense_variant,p.Glu1870Asp,ENST00000399617,NM_001167624.2;CACNA1C,missense_variant,p.Glu1835Asp,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Glu1860Asp,ENST00000335762,;CACNA1C,missense_variant,p.Glu1883Asp,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,missense_variant,p.Glu1876Asp,ENST00000344100,NM_001129829.1;CACNA1C,missense_variant,p.Glu1870Asp,ENST00000327702,NM_001129830.2;CACNA1C,missense_variant,p.Glu1863Asp,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Glu1855Asp,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Glu1854Asp,ENST00000399621,NM_001129834.1;CACNA1C,missense_variant,p.Glu1854Asp,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Glu1854Asp,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Glu1852Asp,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Glu1843Asp,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,missense_variant,p.Glu1843Asp,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Glu1841Asp,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Glu1835Asp,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,missense_variant,p.Glu1835Asp,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Glu1835Asp,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Glu1835Asp,ENST00000399644,NM_001129841.1;CACNA1C,missense_variant,p.Glu526Asp,ENST00000616390,;CACNA1C-AS1,intron_variant,,ENST00000501371,;CACNA1C,downstream_gene_variant,,ENST00000465934,;	C	ENST00000347598	Transcript	missense_variant	5649/6655	5649/6561	1883/2186	E/D	gaG/gaC		1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3	tolerated_low_confidence(0.32)		45/49		Pfam_domain:PF16885,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	2682610	2682610	G	C	1	0	0	0	0	1	0	0	0	2228	933	33	4		4	CACNA1C	12	2682610	Missense_Mutation	SNP	G	C3N-00294_TP	888888	2682610	130592699	821	14323											
CACNA1C	0	.	GRCh38	chr12	2690947	2690947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgctcaagatcccaagttCatcgaggtcaccacccagga	11	9	8	13	1	3	1	3	0	0	1	5	3	4	2	3	2	1	2	3	2	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.6309C>T	p.=	p.F2103F	ENST00000347598	49/49	99	76	23	109	109	0	strelka-varscan-mutect	CACNA1C,synonymous_variant,p.=,ENST00000399655,NM_000719.6;CACNA1C,synonymous_variant,p.=,ENST00000399634,NM_001167625.1;CACNA1C,synonymous_variant,p.=,ENST00000406454,;CACNA1C,synonymous_variant,p.=,ENST00000399617,NM_001167624.2;CACNA1C,synonymous_variant,p.=,ENST00000399603,NM_001167623.1;CACNA1C,synonymous_variant,p.=,ENST00000335762,;CACNA1C,synonymous_variant,p.=,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,synonymous_variant,p.=,ENST00000344100,NM_001129829.1;CACNA1C,synonymous_variant,p.=,ENST00000327702,NM_001129830.2;CACNA1C,synonymous_variant,p.=,ENST00000399638,NM_001129831.1;CACNA1C,synonymous_variant,p.=,ENST00000399606,NM_001129832.1;CACNA1C,synonymous_variant,p.=,ENST00000399621,NM_001129834.1;CACNA1C,synonymous_variant,p.=,ENST00000399637,NM_001129835.1;CACNA1C,synonymous_variant,p.=,ENST00000402845,NM_001129833.1;CACNA1C,synonymous_variant,p.=,ENST00000399629,NM_001129836.1;CACNA1C,synonymous_variant,p.=,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,synonymous_variant,p.=,ENST00000399595,NM_001129837.1;CACNA1C,synonymous_variant,p.=,ENST00000399649,NM_001129839.1;CACNA1C,synonymous_variant,p.=,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,synonymous_variant,p.=,ENST00000399601,NM_001129843.1;CACNA1C,synonymous_variant,p.=,ENST00000399641,NM_001129840.1;CACNA1C,synonymous_variant,p.=,ENST00000399644,NM_001129841.1;CACNA1C,synonymous_variant,p.=,ENST00000616390,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000501371,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000544517,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000541673,;RP11-885B4.1,downstream_gene_variant,,ENST00000636122,;	T	ENST00000347598	Transcript	synonymous_variant	6309/6655	6309/6561	2103/2186	F	ttC/ttT		1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3			49/49		Pfam_domain:PF16885																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	2690947	2690947	C	T	1	0	0	0	0	0	0	0	1	2228	825	29	3		3	CACNA1C	12	2690947	Silent	SNP	C	C3N-00294_TP	8337	2690947	130584362	822	14324											
FKBP4	0	.	GRCh38	chr12	2797165	2797165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagagagggcacaggtacaGagatgcccatgattggggac	13	5	16	7	0	0	4	0	1	0	3	0	7	0	5	1	4	2	2	1	4	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.133G>A	p.Glu45Lys	p.E45K	ENST00000001008	2/10	200	174	26	199	199	0	strelka-varscan-mutect	FKBP4,missense_variant,p.Glu45Lys,ENST00000001008,NM_002014.3;FKBP4,5_prime_UTR_variant,,ENST00000538622,;FKBP4,upstream_gene_variant,,ENST00000539181,;FKBP4,downstream_gene_variant,,ENST00000630279,;RP4-816N1.7,non_coding_transcript_exon_variant,,ENST00000547042,;RP4-816N1.6,intron_variant,,ENST00000547834,;FKBP4,non_coding_transcript_exon_variant,,ENST00000540260,;RP11-885B4.1,intron_variant,,ENST00000540093,;RP11-885B4.1,upstream_gene_variant,,ENST00000636122,;CBX3P4,upstream_gene_variant,,ENST00000540428,;FKBP4,3_prime_UTR_variant,,ENST00000543769,;FKBP4,upstream_gene_variant,,ENST00000543037,;	A	ENST00000001008	Transcript	missense_variant	320/3732	133/1380	45/459	E/K	Gag/Aag		1		1	FKBP4	HGNC	HGNC:3720	protein_coding	YES	CCDS8512.1	ENSP00000001008	Q02790		UPI000013C4D0	NM_002014.3	deleterious(0.02)		2/10		hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF25,Gene3D:3.10.50.40,Pfam_domain:PF00254,Superfamily_domains:SSF54534																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	2797165	2797165	G	A	1	0	0	0	0	1	0	0	0	5774	943	33	3		3	FKBP4	12	2797165	Missense_Mutation	SNP	G	C3N-00294_TP	106218	2797165	130478144	823	14325											
FOXM1	0	.	GRCh38	chr12	2864431	2864431	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaacaccagtgactggttCaccgggaactggataggtac	11	8	12	10	1	1	1	1	1	0	0	1	3	1	3	2	4	4	3	2	4	4	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1155G>A	p.=	p.V385V	ENST00000342628	8/10	109	90	19	121	121	0	strelka-varscan-mutect	FOXM1,synonymous_variant,p.=,ENST00000627656,NM_001243088.1;FOXM1,synonymous_variant,p.=,ENST00000342628,NM_202002.2;FOXM1,synonymous_variant,p.=,ENST00000361953,NM_202003.2,NM_001243089.1;FOXM1,synonymous_variant,p.=,ENST00000359843,NM_021953.3;FOXM1,synonymous_variant,p.=,ENST00000535350,;ITFG2,downstream_gene_variant,,ENST00000545509,;ITFG2,downstream_gene_variant,,ENST00000537710,;FOXM1,downstream_gene_variant,,ENST00000537018,;FOXM1,non_coding_transcript_exon_variant,,ENST00000536066,;FOXM1,non_coding_transcript_exon_variant,,ENST00000366362,;FOXM1,downstream_gene_variant,,ENST00000545049,;FOXM1,downstream_gene_variant,,ENST00000538564,;	T	ENST00000342628	Transcript	synonymous_variant	1269/3475	1155/2406	385/801	V	gtG/gtA		1		-1	FOXM1	HGNC	HGNC:3818	protein_coding	YES	CCDS8516.1	ENSP00000342307	Q08050		UPI000016B22B	NM_202002.2			8/10																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	2864431	2864431	C	T	1	0	0	0	0	0	0	0	1	5882	813	29	3		3	FOXM1	12	2864431	Silent	SNP	C	C3N-00294_TP	67266	2864431	130410878	824	14326											
CCND2	0	.	GRCh38	chr12	4274059	4274059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatggagctgctgtgccacGaggtggacccggtccgcagg	6	6	16	13	3	0	0	0	0	0	0	1	3	1	2	4	5	3	3	4	5	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.19G>A	p.Glu7Lys	p.E7K	ENST00000261254	1/5	125	100	25	121	121	0	strelka-varscan-mutect	CCND2,missense_variant,p.Glu7Lys,ENST00000261254,NM_001759.3;CCND2,upstream_gene_variant,,ENST00000536537,;CCND2-AS1,intron_variant,,ENST00000539135,;CCND2-AS2,intron_variant,,ENST00000537370,;CCND2,upstream_gene_variant,,ENST00000541542,;CCND2,upstream_gene_variant,,ENST00000536795,;	A	ENST00000261254	Transcript	missense_variant	288/6480	19/870	7/289	E/K	Gag/Aag		1		1	CCND2	HGNC	HGNC:1583	protein_coding	YES	CCDS8524.1	ENSP00000261254	P30279		UPI00001275C5	NM_001759.3	deleterious(0)		1/5		hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF66																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	4274059	4274059	G	A	1	0	0	0	0	1	0	0	0	2616	1059	37	1		1	CCND2	12	4274059	Missense_Mutation	SNP	G	C3N-00294_TP	1409628	4274059	129001250	825	14327											
GALNT8	0	.	GRCh38	chr12	4811245	4811245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcgcagaggctgacgatGacgattcgctttttcccagc	8	11	10	12	4	0	3	0	2	0	1	3	5	1	3	1	1	1	3	1	1	0	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1204G>A	p.Asp402Asn	p.D402N	ENST00000280684	1/1	335	272	63	375	375	0	strelka-varscan-mutect	GALNT8,missense_variant,p.Asp402Asn,ENST00000433855,NM_002235.3;KCNA6,missense_variant,p.Asp402Asn,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;	A	ENST00000280684	Transcript	missense_variant	2070/4237	1204/1590	402/529	D/N	Gac/Aac		1		1	KCNA6	HGNC	HGNC:6225	protein_coding	YES	CCDS8534.1	ENSP00000280684	P17658		UPI00001279AD		tolerated(0.11)		1/1		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF104,Superfamily_domains:SSF81324																	MODERATE		SNV				1										PASS		.	.												A	3	1	46	4811245	4811245	G	A	1	0	0	0	0	1	0	0	0	6090	1290	45	3		3	GALNT8	12	4811245	Missense_Mutation	SNP	G	C3N-00294_TP	537186	4811245	128464064	826	14328											
VWF	0	.	GRCh38	chr12	6057025	6057025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacggcacgatggcaggcctCgaatgtgggggacgtcagga	9	5	18	9	4	1	0	1	0	0	0	2	5	1	2	1	6	0	2	1	6	1	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1777G>A	p.Glu593Lys	p.E593K	ENST00000261405	15/52	203	151	52	201	201	0	strelka-varscan-mutect	VWF,missense_variant,p.Glu593Lys,ENST00000261405,NM_000552.3;VWF,intron_variant,,ENST00000538635,;	T	ENST00000261405	Transcript	missense_variant	2032/8838	1777/8442	593/2813	E/K	Gag/Aag		1		-1	VWF	HGNC	HGNC:12726	protein_coding	YES	CCDS8539.1	ENSP00000261405	P04275		UPI00001AE7EE	NM_000552.3	tolerated(0.09)		15/52		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,Pfam_domain:PF08742,PIRSF_domain:PIRSF002495,SMART_domains:SM00832																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	6057025	6057025	C	T	1	0	0	0	0	1	0	0	0	17806	893	31	1		1	VWF	12	6057025	Missense_Mutation	SNP	C	C3N-00294_TP	1245780	6057025	127218284	827	14329											
SCNN1A	0	.	GRCh38	chr12	6363694	6363694	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccagctcctccagctcctCtttaatttccgggtacctga	6	13	7	15	1	1	1	0	1	1	0	6	1	6	1	6	1	3	3	6	1	2	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.610G>C	p.Glu204Gln	p.E204Q	ENST00000360168	2/12	76	61	15	70	70	0	strelka-varscan-mutect	SCNN1A,missense_variant,p.Glu204Gln,ENST00000360168,NM_001159576.1;SCNN1A,missense_variant,p.Glu145Gln,ENST00000228916,NM_001038.5;SCNN1A,missense_variant,p.Glu168Gln,ENST00000543768,NM_001159575.1;SCNN1A,missense_variant,p.Glu145Gln,ENST00000396966,;SCNN1A,5_prime_UTR_variant,,ENST00000540037,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000544882,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000536176,;SCNN1A,intron_variant,,ENST00000538979,;SCNN1A,upstream_gene_variant,,ENST00000542966,;SCNN1A,upstream_gene_variant,,ENST00000541249,;SCNN1A,missense_variant,p.Glu145Gln,ENST00000338748,;	G	ENST00000360168	Transcript	missense_variant	874/3481	610/2187	204/728	E/Q	Gag/Cag		1		-1	SCNN1A	HGNC	HGNC:10599	protein_coding	YES	CCDS53738.1	ENSP00000353292	P37088		UPI00001B07D7	NM_001159576.1	tolerated(0.2)		2/12		hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF124,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	6363694	6363694	C	G	1	0	0	0	0	1	0	0	0	14196	922	32	4		4	SCNN1A	12	6363694	Missense_Mutation	SNP	C	C3N-00294_TP	306669	6363694	126911615	828	14330											
NOP2	0	.	GRCh38	chr12	6563164	6563164	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcattagcttctaagaactCcaccagctgcggggcaagac	11	8	9	13	1	2	2	1	0	1	2	3	2	3	2	2	2	4	3	2	2	4	3			C3N-00294_TP	C3N-00294_NB	C	C																c.994G>C	p.Glu332Gln	p.E332Q	ENST00000382421	10/17	117	93	24	136	135	1	strelka-varscan-mutect	NOP2,missense_variant,p.Glu295Gln,ENST00000541778,NM_006170.3;NOP2,missense_variant,p.Glu332Gln,ENST00000620535,;NOP2,missense_variant,p.Glu295Gln,ENST00000545200,NM_001258310.1;NOP2,missense_variant,p.Glu332Gln,ENST00000382421,NM_001258309.1;NOP2,missense_variant,p.Glu295Gln,ENST00000399466,NM_001033714.2;NOP2,missense_variant,p.Glu299Gln,ENST00000322166,NM_001258308.1;NOP2,missense_variant,p.Glu299Gln,ENST00000537442,;NOP2,missense_variant,p.Glu295Gln,ENST00000617555,;NOP2,missense_variant,p.Glu175Gln,ENST00000542944,;NOP2,downstream_gene_variant,,ENST00000542867,;NOP2,downstream_gene_variant,,ENST00000536124,;NOP2,downstream_gene_variant,,ENST00000540228,;NOP2,downstream_gene_variant,,ENST00000545492,;NOP2,downstream_gene_variant,,ENST00000545915,;NOP2,intron_variant,,ENST00000542015,;NOP2,non_coding_transcript_exon_variant,,ENST00000542919,;NOP2,upstream_gene_variant,,ENST00000536506,;NOP2,upstream_gene_variant,,ENST00000544630,;NOP2,upstream_gene_variant,,ENST00000537708,;NOP2,downstream_gene_variant,,ENST00000538420,;NOP2,downstream_gene_variant,,ENST00000538697,;NOP2,downstream_gene_variant,,ENST00000400580,;NOP2,downstream_gene_variant,,ENST00000546053,;	G	ENST00000382421	Transcript	missense_variant	1070/2736	994/2538	332/845	E/Q	Gag/Cag	COSM3812800,COSM3812801	1		-1	NOP2	HGNC	HGNC:7867	protein_coding	YES	CCDS58204.1	ENSP00000371858	P46087		UPI00005C3039	NM_001258309.1	deleterious(0.01)		10/17		hmmpanther:PTHR22807:SF30,hmmpanther:PTHR22807,Pfam_domain:PF17125,Superfamily_domains:SSF53335,Prints_domain:PR02012											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1301911932	.												G	3	3	46	6563164	6563164	C	G	1	0	0	0	0	1	0	0	0	10582	864	30	4		4	NOP2	12	6563164	Missense_Mutation	SNP	C	C3N-00294_TP	199470	6563164	126712145	829	14331											
CHD4	0	.	GRCh38	chr12	6581763	6581763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcttgttttcctccacctCagccagttcaggcatgctcc	5	14	6	16	0	3	0	2	0	1	0	6	0	6	0	5	1	2	4	5	1	0	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.4567G>A	p.Glu1523Lys	p.E1523K	ENST00000357008	31/40	31	25	6	32	32	0	strelka-varscan-mutect	CHD4,missense_variant,p.Glu1548Lys,ENST00000544484,;CHD4,missense_variant,p.Glu1516Lys,ENST00000544040,NM_001297553.1;CHD4,missense_variant,p.Glu1523Lys,ENST00000357008,NM_001273.3;SCARNA11,upstream_gene_variant,,ENST00000516089,;RP5-940J5.6,intron_variant,,ENST00000501075,;CHD4,intron_variant,,ENST00000536301,;CHD4,downstream_gene_variant,,ENST00000540960,;CHD4,upstream_gene_variant,,ENST00000542717,;	T	ENST00000357008	Transcript	missense_variant	4731/6496	4567/5739	1523/1912	E/K	Gag/Aag		1		-1	CHD4	HGNC	HGNC:1919	protein_coding	YES	CCDS8552.1	ENSP00000349508	Q14839		UPI000013C8EF	NM_001273.3	tolerated(0.09)		31/40		hmmpanther:PTHR10799:SF554,hmmpanther:PTHR10799,SMART_domains:SM01146																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	6581763	6581763	C	T	1	0	0	0	0	1	0	0	0	3086	835	29	3		3	CHD4	12	6581763	Missense_Mutation	SNP	C	C3N-00294_TP	18599	6581763	126693546	830	14332											
CHD4	0	.	GRCh38	chr12	6593472	6593472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgtcttcaaaggagaactCattctctcggatgatggcac	11	12	9	9	1	4	2	2	1	2	1	6	4	4	3	0	3	1	1	0	3	2	3			C3N-00294_TP	C3N-00294_NB	C	C																c.2458G>A	p.Glu820Lys	p.E820K	ENST00000357008	16/40	169	138	31	176	176	0	strelka-varscan-mutect	CHD4,missense_variant,p.Glu817Lys,ENST00000544484,;CHD4,missense_variant,p.Glu813Lys,ENST00000544040,NM_001297553.1;CHD4,missense_variant,p.Glu820Lys,ENST00000357008,NM_001273.3;CHD4,downstream_gene_variant,,ENST00000536999,;CHD4,upstream_gene_variant,,ENST00000536301,;CHD4,upstream_gene_variant,,ENST00000537634,;CHD4,upstream_gene_variant,,ENST00000545083,;	T	ENST00000357008	Transcript	missense_variant	2622/6496	2458/5739	820/1912	E/K	Gag/Aag	COSM3812843,COSM3812844,COSM3812845	1		-1	CHD4	HGNC	HGNC:1919	protein_coding	YES	CCDS8552.1	ENSP00000349508	Q14839		UPI000013C8EF	NM_001273.3	deleterious(0)		16/40		PROSITE_profiles:PS51192,hmmpanther:PTHR10799:SF554,hmmpanther:PTHR10799,Pfam_domain:PF00176,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	46	6593472	6593472	C	T	1	0	0	0	0	1	0	0	0	3086	835	29	3		3	CHD4	12	6593472	Missense_Mutation	SNP	C	C3N-00294_TP	11709	6593472	126681837	831	14333											
TAS2R7	0	.	GRCh38	chr12	10801710	10801710	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttaatttattgttcccCagtattaggataaatgaatg	12	17	7	5	0	1	1	0	1	1	0	2	2	2	2	2	1	0	2	2	1	7	8	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.861G>C	p.=	p.L287L	ENST00000240687	1/1	166	136	30	216	216	0	strelka-varscan-mutect	TAS2R7,synonymous_variant,p.=,ENST00000240687,NM_023919.2;TAS2R8,downstream_gene_variant,,ENST00000240615,NM_023918.1;	G	ENST00000240687	Transcript	synonymous_variant	918/1096	861/957	287/318	L	ctG/ctC		1		-1	TAS2R7	HGNC	HGNC:14913	protein_coding	YES	CCDS8631.1	ENSP00000240687	Q9NYW3		UPI0000038B0F	NM_023919.2			1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF58,Pfam_domain:PF05296,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												G	2	3	46	10801710	10801710	C	G	1	0	0	0	0	0	0	0	1	15985	581	21	4		4	TAS2R7	12	10801710	Silent	SNP	C	C3N-00294_TP	4208238	10801710	122473599	832	14334											
PTPRO	0	.	GRCh38	chr12	15546652	15546652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtggaagagggagtagctGatttctttgaagttttctgt	8	15	15	3	0	2	3	0	2	2	1	2	5	2	5	0	3	1	3	0	3	3	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2248G>A	p.Asp750Asn	p.D750N	ENST00000281171	13/27	327	262	65	348	348	0	strelka-varscan-mutect	PTPRO,missense_variant,p.Asp750Asn,ENST00000281171,NM_030667.2;PTPRO,missense_variant,p.Asp750Asn,ENST00000348962,NM_002848.3;PTPRO,5_prime_UTR_variant,,ENST00000445537,NM_030671.2;PTPRO,5_prime_UTR_variant,,ENST00000544244,NM_030670.2;PTPRO,5_prime_UTR_variant,,ENST00000442921,NM_030669.2;PTPRO,5_prime_UTR_variant,,ENST00000542557,NM_030668.2;PTPRO,missense_variant,p.Asp13Asn,ENST00000535311,;	A	ENST00000281171	Transcript	missense_variant	2578/5301	2248/3651	750/1216	D/N	Gat/Aat		1		1	PTPRO	HGNC	HGNC:9678	protein_coding	YES	CCDS8675.1	ENSP00000281171	Q16827		UPI000013DC62	NM_030667.2	deleterious(0.01)		13/27		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF315,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	15546652	15546652	G	A	1	0	0	0	0	1	0	0	0	12963	1290	45	3		3	PTPRO	12	15546652	Missense_Mutation	SNP	G	C3N-00294_TP	4744942	15546652	117728657	833	14335											
STRAP	0	.	GRCh38	chr12	15897970	15897970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttcttgttgcaggcggtGaagattttaaactttataag	12	16	9	4	1	1	2	0	1	1	1	1	2	1	2	0	2	2	2	0	2	6	8	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.727G>A	p.Glu243Lys	p.E243K	ENST00000419869	7/10	97	84	13	177	177	0	strelka-varscan-mutect	STRAP,missense_variant,p.Glu243Lys,ENST00000419869,NM_007178.3;STRAP,missense_variant,p.Glu256Lys,ENST00000025399,;STRAP,missense_variant,p.Glu10Lys,ENST00000538718,;STRAP,3_prime_UTR_variant,,ENST00000541731,;STRAP,non_coding_transcript_exon_variant,,ENST00000536737,;STRAP,upstream_gene_variant,,ENST00000539887,;	A	ENST00000419869	Transcript	missense_variant	1040/1866	727/1053	243/350	E/K	Gaa/Aaa		1		1	STRAP	HGNC	HGNC:30796	protein_coding	YES	CCDS8676.1	ENSP00000392270	Q9Y3F4		UPI0000137C97	NM_007178.3	deleterious(0.03)		7/10		PROSITE_profiles:PS50294,hmmpanther:PTHR19877,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	15897970	15897970	G	A	1	0	0	0	0	1	0	0	0	15707	1291	45	3		3	STRAP	12	15897970	Missense_Mutation	SNP	G	C3N-00294_TP	351318	15897970	117377339	834	14336											
RERGL	0	.	GRCh38	chr12	18081424	18081424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagccaacctctcgcacatGacaaagatctcgtttgttgc	10	10	7	14	2	2	2	0	1	2	1	4	2	2	2	3	0	3	3	3	0	2	2	rs748778436		C3N-00294_TP	C3N-00294_NB	G	G																c.385C>G	p.His129Asp	p.H129D	ENST00000229002	6/6	105	84	21	106	106	0	strelka-varscan-mutect	RERGL,missense_variant,p.His129Asp,ENST00000229002,NM_024730.3;RERGL,missense_variant,p.His128Asp,ENST00000538724,NM_001286201.1;RERGL,3_prime_UTR_variant,,ENST00000536890,;RERGL,non_coding_transcript_exon_variant,,ENST00000541632,;RERGL,non_coding_transcript_exon_variant,,ENST00000540148,;	C	ENST00000229002	Transcript	missense_variant	592/1147	385/618	129/205	H/D	Cat/Gat	rs748778436,COSM1746875,COSM1746876	1		-1	RERGL	HGNC	HGNC:26213	protein_coding	YES	CCDS8679.1	ENSP00000229002	Q9H628		UPI000000D9FA	NM_024730.3	deleterious(0)		6/6		Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF30,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs748778436	.												C	3	2	46	18081424	18081424	G	C	1	0	0	0	0	1	0	0	0	13403	1290	45	4		4	RERGL	12	18081424	Missense_Mutation	SNP	G	C3N-00294_TP	2183454	18081424	115193885	835	14337											
PIK3C2G	0	.	GRCh38	chr12	18282267	18282268	+	Frame_Shift_Ins	INS	-	-	T																															gtgaaattgatgaaaacaccINSttttttgtgcccactgcacc																								novel		C3N-00294_TP	C3N-00294_NB	-	-																c.192dupT	p.Val65CysfsTer16	p.V65Cfs*16	ENST00000538779	2/33	131	111	20	182	182	0	sindel-varindel-pindel	PIK3C2G,frameshift_variant,p.Val65CysfsTer16,ENST00000538779,NM_001288772.1,NM_001288774.1;PIK3C2G,frameshift_variant,p.Val65CysfsTer16,ENST00000433979,NM_004570.5;PIK3C2G,frameshift_variant,p.Val65CysfsTer16,ENST00000266497,;PIK3C2G,frameshift_variant,p.Val65CysfsTer16,ENST00000535651,;PIK3C2G,upstream_gene_variant,,ENST00000536967,;RERGL,intron_variant,,ENST00000541632,;PIK3C2G,frameshift_variant,p.Val65CysfsTer16,ENST00000546003,;	T	ENST00000538779	Transcript	frameshift_variant	302-303/4963	186-187/4461	62-63/1486	-/X	-/T		1		1	PIK3C2G	HGNC	HGNC:8973	protein_coding	YES	CCDS73452.1	ENSP00000445381		F5H369	UPI00020655D2	NM_001288772.1,NM_001288774.1			2/33		hmmpanther:PTHR10048:SF29,hmmpanther:PTHR10048																	HIGH	1	insertion	5	6		1										PASS		.	.												T	7	5	46	18282267	18282267	-	T	1	0	1	1	0	0	0	0	0	12006	668	24	0		0	PIK3C2G	12	18282267	Frame_Shift_Ins	INS	-	C3N-00294_TP	200843	18282267	114993042	836	14338											
BCAT1	0	.	GRCh38	chr12	24842130	24842130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagattcatagttcccacttCagtgatctgatggtcctctc	9	14	7	11	0	4	3	2	2	2	1	7	3	6	3	2	1	0	1	2	1	2	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.805G>A	p.Glu269Lys	p.E269K	ENST00000539282	7/11	227	186	41	207	207	0	strelka-varscan-mutect	BCAT1,missense_variant,p.Glu257Lys,ENST00000261192,NM_005504.6;BCAT1,missense_variant,p.Glu256Lys,ENST00000538118,NM_001178094.1;BCAT1,missense_variant,p.Glu196Lys,ENST00000342945,NM_001178092.1;BCAT1,missense_variant,p.Glu269Lys,ENST00000539282,NM_001178093.1;BCAT1,missense_variant,p.Glu220Lys,ENST00000539780,NM_001178091.1;BCAT1,non_coding_transcript_exon_variant,,ENST00000544418,;BCAT1,missense_variant,p.Glu160Lys,ENST00000612790,;	T	ENST00000539282	Transcript	missense_variant	892/1811	805/1197	269/398	E/K	Gaa/Aaa		1		-1	BCAT1	HGNC	HGNC:976	protein_coding	YES	CCDS53761.1	ENSP00000443459	P54687		UPI0001D27F89	NM_001178093.1	deleterious(0)		7/11		hmmpanther:PTHR11825,hmmpanther:PTHR11825:SF51,PROSITE_patterns:PS00770,TIGRFAM_domain:TIGR01123,Pfam_domain:PF01063,PIRSF_domain:PIRSF006468,Gene3D:3.20.10.10,Superfamily_domains:SSF56752																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	46	24842130	24842130	C	T	1	0	0	0	0	1	0	0	0	1501	835	29	3		3	BCAT1	12	24842130	Missense_Mutation	SNP	C	C3N-00294_TP	6559863	24842130	108433179	837	14339											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3N-00294_TP	C3N-00294_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	293	164	129	289	289	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												A	3	1	46	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	C3N-00294_TP	403221	25245351	108029958	838	14340											
ITPR2	0	.	GRCh38	chr12	26580030	26580030	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaattgtttaacttacctgGaggctggtactattgtctga	9	15	10	7	0	1	1	0	1	1	0	1	2	1	2	1	3	3	4	1	3	5	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4506C>T	p.=	p.L1502L	ENST00000381340	33/57	49	42	7	93	93	0	strelka-varscan-mutect	ITPR2,synonymous_variant,p.=,ENST00000381340,NM_002223.2;	A	ENST00000381340	Transcript	synonymous_variant	4923/11405	4506/8106	1502/2701	L	ctC/ctT		1		-1	ITPR2	HGNC	HGNC:6181	protein_coding	YES	CCDS41764.1	ENSP00000370744	Q14571		UPI00001FB7D2	NM_002223.2			33/57		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF53,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	26580030	26580030	G	A	1	0	0	0	0	0	0	0	1	7827	1188	41	3		3	ITPR2	12	26580030	Silent	SNP	G	C3N-00294_TP	1334679	26580030	106695279	839	14341											
TM7SF3	0	.	GRCh38	chr12	26996850	26996850	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgaactccaaattacagcctCcagggacaggatctggataa	14	7	9	11	1	1	0	0	0	1	0	3	4	3	3	3	3	3	0	3	3	4	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.410G>C	p.Gly137Ala	p.G137A	ENST00000343028	4/12	99	78	21	97	97	0	strelka-varscan-mutect	TM7SF3,missense_variant,p.Gly137Ala,ENST00000343028,NM_016551.2;TM7SF3,missense_variant,p.Gly15Ala,ENST00000543088,;TM7SF3,missense_variant,p.Gly35Ala,ENST00000543803,;TM7SF3,missense_variant,p.Gly15Ala,ENST00000539741,;TM7SF3,missense_variant,p.Gly15Ala,ENST00000535423,;TM7SF3,intron_variant,,ENST00000535819,;TM7SF3,intron_variant,,ENST00000543655,;TM7SF3,downstream_gene_variant,,ENST00000512808,;TM7SF3,downstream_gene_variant,,ENST00000545600,;TM7SF3,upstream_gene_variant,,ENST00000545303,;TM7SF3,non_coding_transcript_exon_variant,,ENST00000542667,;TM7SF3,downstream_gene_variant,,ENST00000539399,;TM7SF3,3_prime_UTR_variant,,ENST00000542019,;TM7SF3,upstream_gene_variant,,ENST00000535260,;TM7SF3,upstream_gene_variant,,ENST00000543882,;	G	ENST00000343028	Transcript	missense_variant	636/2709	410/1713	137/570	G/A	gGa/gCa		1		-1	TM7SF3	HGNC	HGNC:23049	protein_coding	YES	CCDS8710.1	ENSP00000342322	Q9NS93		UPI0000136849	NM_016551.2	deleterious(0)		4/12		hmmpanther:PTHR15937																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	26996850	26996850	C	G	1	0	0	0	0	1	0	0	0	16420	855	30	4		4	TM7SF3	12	26996850	Missense_Mutation	SNP	C	C3N-00294_TP	416820	26996850	106278459	840	14342											
OVOS2	0	.	GRCh38	chr12	31150215	31150215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtaacaattacagcgacatGaaatgtcatgaacaatcccg	16	9	7	9	2	1	2	1	2	0	0	2	3	2	2	1	0	4	1	1	0	6	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.892C>T	p.His298Tyr	p.H298Y	ENST00000632817	8/34	126	102	24	183	183	0	strelka-varscan-mutect	OVOS2,missense_variant,p.His298Tyr,ENST00000398963,;OVOS2,missense_variant,p.His298Tyr,ENST00000632817,;	A	ENST00000632817	Transcript	missense_variant	892/4299	892/4299	298/1432	H/Y	Cat/Tat		1		-1	OVOS2	Clone_based_vega_gene		protein_coding	YES		ENSP00000487815		A0A0J9YW53	UPI0001AE6AF7		tolerated(0.36)		8/34		hmmpanther:PTHR11412:SF77,hmmpanther:PTHR11412																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	31150215	31150215	G	A	1	0	0	0	0	1	0	0	0	11399	1290	45	3		3	OVOS2	12	31150215	Missense_Mutation	SNP	G	C3N-00294_TP	4153365	31150215	102125094	841	14343											
KIAA1551	0	.	GRCh38	chr12	31982516	31982516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatgccagactcatctcatGatgtgaaagttctcacttca	12	12	6	11	0	4	3	4	2	2	1	6	3	4	3	1	0	1	1	1	0	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1561G>C	p.Asp521His	p.D521H	ENST00000312561	4/6	167	125	42	201	201	0	strelka-varscan-mutect	KIAA1551,missense_variant,p.Asp521His,ENST00000312561,NM_018169.3;KIAA1551,missense_variant,p.Asp521His,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	C	ENST00000312561	Transcript	missense_variant	1975/6230	1561/5244	521/1747	D/H	Gat/Cat		1		1	KIAA1551	HGNC	HGNC:25559	protein_coding	YES	CCDS8725.2	ENSP00000310338	Q9HCM1		UPI0000577B2F	NM_018169.3	tolerated(0.13)		4/6		hmmpanther:PTHR21604																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	31982516	31982516	G	C	1	0	0	0	0	1	0	0	0	8122	1290	45	4		4	KIAA1551	12	31982516	Missense_Mutation	SNP	G	C3N-00294_TP	832301	31982516	101292793	842	14344											
AMIGO2	0	.	GRCh38	chr12	47077670	47077670	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actagcggggccaggactgaGaatcgatgaatgggcattgc	11	7	15	8	2	0	2	0	2	0	1	1	5	0	3	1	4	2	1	1	4	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1333C>G	p.Leu445Val	p.L445V	ENST00000266581	2/2	187	148	39	186	186	0	strelka-varscan-mutect	AMIGO2,missense_variant,p.Leu445Val,ENST00000266581,NM_181847.4;AMIGO2,missense_variant,p.Leu445Val,ENST00000429635,NM_001143668.1;AMIGO2,missense_variant,p.Leu445Val,ENST00000550413,;PCED1B,upstream_gene_variant,,ENST00000546455,NM_138371.2;PCED1B,upstream_gene_variant,,ENST00000432328,NM_001281429.1;	C	ENST00000266581	Transcript	missense_variant	1800/3763	1333/1569	445/522	L/V	Ctc/Gtc		1		-1	AMIGO2	HGNC	HGNC:24073	protein_coding	YES	CCDS8751.1	ENSP00000266581	Q86SJ2	A0A024R127	UPI000000DC21	NM_181847.4	deleterious(0.01)		2/2		hmmpanther:PTHR24368,hmmpanther:PTHR24368:SF209																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	47077670	47077670	G	C	1	0	0	0	0	1	0	0	0	674	942	33	4		4	AMIGO2	12	47077670	Missense_Mutation	SNP	G	C3N-00294_TP	15095154	47077670	86197639	843	14345											
RHEBL1	0	.	GRCh38	chr12	49065397	49065397	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatgtcgcaccccaggactCtgccagcttctttccttcaa	9	11	6	15	1	3	0	1	0	2	0	5	1	4	1	4	1	2	2	4	1	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.415G>C	p.Glu139Gln	p.E139Q	ENST00000301068	7/8	220	186	34	278	278	0	strelka-varscan-mutect	RHEBL1,missense_variant,p.Glu139Gln,ENST00000301068,NM_001303126.1,NM_144593.2;RHEBL1,downstream_gene_variant,,ENST00000550675,;RHEBL1,3_prime_UTR_variant,,ENST00000550797,;RHEBL1,3_prime_UTR_variant,,ENST00000420065,;	G	ENST00000301068	Transcript	missense_variant	655/1210	415/552	139/183	E/Q	Gag/Cag		1		-1	RHEBL1	HGNC	HGNC:21166	protein_coding	YES	CCDS8778.1	ENSP00000301068	Q8TAI7		UPI00000412A8	NM_001303126.1,NM_144593.2	tolerated(0.16)		7/8		PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF253,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	49065397	49065397	C	G	1	0	0	0	0	1	0	0	0	13501	922	32	4		4	RHEBL1	12	49065397	Missense_Mutation	SNP	C	C3N-00294_TP	1987727	49065397	84209912	844	14346											
TUBA1C	0	.	GRCh38	chr12	49272424	49272424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtttccacagctgtagttGagccctacaactccatcctc	9	11	7	14	0	0	1	0	1	0	0	4	1	3	1	4	1	4	4	4	1	3	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.757G>C	p.Glu253Gln	p.E253Q	ENST00000541364	4/4	145	111	34	149	149	0	strelka-varscan-mutect	TUBA1C,missense_variant,p.Glu183Gln,ENST00000301072,NM_032704.4;TUBA1C,missense_variant,p.Glu253Gln,ENST00000541364,NM_001303114.1;TUBA1C,downstream_gene_variant,,ENST00000549183,;RP11-161H23.5,intron_variant,,ENST00000550468,;TUBA1C,3_prime_UTR_variant,,ENST00000552448,NM_001303116.1;TUBA1C,non_coding_transcript_exon_variant,,ENST00000548470,;TUBA1C,downstream_gene_variant,,ENST00000552125,;TUBA1C,downstream_gene_variant,,ENST00000549818,;	C	ENST00000541364	Transcript	missense_variant	785/1695	757/1560	253/519	E/Q	Gag/Cag		1		1	TUBA1C	HGNC	HGNC:20768	protein_coding	YES	CCDS76556.1	ENSP00000443475		F5H5D3	UPI000206586E	NM_001303114.1	deleterious_low_confidence(0)		4/4		Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01161,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF102,SMART_domains:SM00864,Superfamily_domains:SSF52490																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	46	49272424	49272424	G	C	1	0	0	0	0	1	0	0	0	17255	1291	45	4		4	TUBA1C	12	49272424	Missense_Mutation	SNP	G	C3N-00294_TP	207027	49272424	84002885	845	14347											
AQP5	0	.	GRCh38	chr12	49962050	49962050	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtgctccgtggccttcctCaaggccgtgttcgcagagtt	4	12	13	12	3	1	1	1	0	0	1	4	1	3	1	4	2	1	4	4	2	1	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.33C>G	p.=	p.L11L	ENST00000293599	1/4	74	60	14	90	90	0	strelka-varscan-mutect	AQP5,synonymous_variant,p.=,ENST00000293599,NM_001651.3;AQP2,downstream_gene_variant,,ENST00000199280,NM_000486.5;RP11-469H8.6,intron_variant,,ENST00000550214,;RP11-469H8.6,intron_variant,,ENST00000552379,;RP11-469H8.6,intron_variant,,ENST00000550530,;AQP2,downstream_gene_variant,,ENST00000551526,;AQP5,upstream_gene_variant,,ENST00000553132,;	G	ENST00000293599	Transcript	synonymous_variant	181/1450	33/798	11/265	L	ctC/ctG		1		1	AQP5	HGNC	HGNC:638	protein_coding	YES	CCDS8793.1	ENSP00000293599	P55064		UPI000004A0C9	NM_001651.3			1/4		Transmembrane_helices:TMhelix,hmmpanther:PTHR19139,hmmpanther:PTHR19139:SF38,Pfam_domain:PF00230,Gene3D:1.20.1080.10,Superfamily_domains:SSF81338,Prints_domain:PR02017																	LOW	1	SNV	1			1										PASS		rs1373414214	.												G	2	3	46	49962050	49962050	C	G	1	0	0	0	0	0	0	0	1	952	813	29	4		4	AQP5	12	49962050	Silent	SNP	C	C3N-00294_TP	689626	49962050	83313259	846	14348											
FAM186A	0	.	GRCh38	chr12	50352241	50352241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagcctgcggagggatcaGagggatccccagggcctggg	7	5	18	11	1	1	2	1	1	0	1	2	5	2	5	4	5	2	0	4	5	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4591C>G	p.Leu1531Val	p.L1531V	ENST00000327337	4/8	102	86	16	129	129	0	strelka-varscan-mutect	FAM186A,missense_variant,p.Leu1531Val,ENST00000543111,;FAM186A,missense_variant,p.Leu1531Val,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,;	C	ENST00000327337	Transcript	missense_variant	4591/7127	4591/7056	1531/2351	L/V	Ctg/Gtg		1		-1	FAM186A	HGNC	HGNC:26980	protein_coding	YES	CCDS44878.1	ENSP00000329995	A6NE01		UPI00001D7978	NM_001145475.1	tolerated(0.13)		4/8																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	46	50352241	50352241	G	C	1	0	0	0	0	1	0	0	0	5361	933	33	4		4	FAM186A	12	50352241	Missense_Mutation	SNP	G	C3N-00294_TP	390191	50352241	82923068	847	14349											
FAM186A	0	.	GRCh38	chr12	50353353	50353353	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtttctgagcctgctgagtgGtgagagagatccccggggcc	6	9	16	10	1	1	4	0	3	1	2	2	6	2	4	4	3	2	2	4	3	0	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3479C>A	p.Thr1160Asn	p.T1160N	ENST00000327337	4/8	124	100	24	114	114	0	strelka-varscan-mutect	FAM186A,missense_variant,p.Thr1160Asn,ENST00000543111,;FAM186A,missense_variant,p.Thr1160Asn,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,;	T	ENST00000327337	Transcript	missense_variant	3479/7127	3479/7056	1160/2351	T/N	aCc/aAc		1		-1	FAM186A	HGNC	HGNC:26980	protein_coding	YES	CCDS44878.1	ENSP00000329995	A6NE01		UPI00001D7978	NM_001145475.1	deleterious(0.03)		4/8		hmmpanther:PTHR33590,hmmpanther:PTHR33590:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	50353353	50353353	G	T	1	0	0	0	0	1	0	0	0	5361	1261	44	2		2	FAM186A	12	50353353	Missense_Mutation	SNP	G	C3N-00294_TP	1112	50353353	82921956	848	14350											
CSRNP2	0	.	GRCh38	chr12	51064185	51064185	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaggcagttgggtggtctGagttctcggtaaaacacagg	9	11	15	6	1	2	2	0	2	2	0	3	2	2	2	0	5	1	4	0	5	2	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1193C>G	p.Ser398Ter	p.S398*	ENST00000228515	5/5	123	94	29	137	137	0	strelka-varscan-mutect	CSRNP2,stop_gained,p.Ser398Ter,ENST00000228515,NM_030809.2;LETMD1,downstream_gene_variant,,ENST00000418425,NM_001243689.1;LETMD1,downstream_gene_variant,,ENST00000262055,NM_015416.4;LETMD1,downstream_gene_variant,,ENST00000552739,;LETMD1,downstream_gene_variant,,ENST00000547008,NM_001300765.1;LETMD1,downstream_gene_variant,,ENST00000550929,;LETMD1,downstream_gene_variant,,ENST00000553043,;LETMD1,downstream_gene_variant,,ENST00000551931,;CSRNP2,downstream_gene_variant,,ENST00000548206,;LETMD1,downstream_gene_variant,,ENST00000547256,;LETMD1,downstream_gene_variant,,ENST00000547660,;LETMD1,downstream_gene_variant,,ENST00000623495,;LETMD1,downstream_gene_variant,,ENST00000548516,;LETMD1,downstream_gene_variant,,ENST00000549395,;LETMD1,downstream_gene_variant,,ENST00000547877,;LETMD1,downstream_gene_variant,,ENST00000547318,;LETMD1,downstream_gene_variant,,ENST00000547555,;LETMD1,downstream_gene_variant,,ENST00000552645,;LETMD1,downstream_gene_variant,,ENST00000380135,;LETMD1,downstream_gene_variant,,ENST00000550100,;LETMD1,downstream_gene_variant,,ENST00000546814,;LETMD1,downstream_gene_variant,,ENST00000550274,;LETMD1,downstream_gene_variant,,ENST00000549686,;	C	ENST00000228515	Transcript	stop_gained	1491/4471	1193/1632	398/543	S/*	tCa/tGa		1		-1	CSRNP2	HGNC	HGNC:16006	protein_coding	YES	CCDS8807.1	ENSP00000228515	Q9H175		UPI0000073111	NM_030809.2			5/5		hmmpanther:PTHR13580,hmmpanther:PTHR13580:SF6																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	46	51064185	51064185	G	C	1	0	0	0	0	0	1	0	0	3765	1294	45	4		4	CSRNP2	12	51064185	Nonsense_Mutation	SNP	G	C3N-00294_TP	710832	51064185	82211124	849	14351											
KRT5	0	.	GRCh38	chr12	52519811	52519811	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctcctcggtcctcaccctCtggatgctggggtcgatttg	3	12	12	14	3	2	0	1	0	1	0	6	2	4	1	3	4	1	2	3	4	0	1	rs762648653		C3N-00294_TP	C3N-00294_NB	C	C																c.486G>A	p.=	p.Q162Q	ENST00000252242	1/9	294	234	60	274	274	0	strelka-varscan-mutect	KRT5,synonymous_variant,p.=,ENST00000252242,NM_000424.3;KRT5,synonymous_variant,p.=,ENST00000549420,;KRT5,synonymous_variant,p.=,ENST00000551275,;KRT5,upstream_gene_variant,,ENST00000548409,;KRT5,upstream_gene_variant,,ENST00000551188,;KRT5,downstream_gene_variant,,ENST00000546577,;KRT5,non_coding_transcript_exon_variant,,ENST00000552629,;KRT5,upstream_gene_variant,,ENST00000549511,;KRT5,upstream_gene_variant,,ENST00000551013,;KRT5,upstream_gene_variant,,ENST00000547890,;KRT5,upstream_gene_variant,,ENST00000552952,;	T	ENST00000252242	Transcript	synonymous_variant	877/2531	486/1773	162/590	Q	caG/caA	rs762648653	1		-1	KRT5	HGNC	HGNC:6442	protein_coding	YES	CCDS8830.1	ENSP00000252242	P13647		UPI000013CD4B	NM_000424.3			1/9		hmmpanther:PTHR23239:SF205,hmmpanther:PTHR23239,Pfam_domain:PF16208																	LOW	1	SNV	1			1										PASS		rs762648653	.												T	2	4	46	52519811	52519811	C	T	1	0	0	0	0	0	0	0	1	8361	912	32	3		3	KRT5	12	52519811	Silent	SNP	C	C3N-00294_TP	1455626	52519811	80755498	850	14352											
HOXC13	0	.	GRCh38	chr12	53939171	53939171	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggctcccctgggcgcccctCagggcgccgtctatacggac	4	6	13	18	5	2	0	1	0	1	0	3	1	3	1	5	4	1	1	5	4	2	2	rs751014305		C3N-00294_TP	C3N-00294_NB	C	C																c.265C>T	p.Gln89Ter	p.Q89*	ENST00000243056	1/2	106	100	6	96	96	0	strelka-varscan-mutect	HOXC13,stop_gained,p.Gln89Ter,ENST00000243056,NM_017410.2;HOXC13-AS,intron_variant,,ENST00000512916,;	T	ENST00000243056	Transcript	stop_gained	407/2423	265/993	89/330	Q/*	Cag/Tag	rs751014305	1		1	HOXC13	HGNC	HGNC:5125	protein_coding	YES	CCDS8865.1	ENSP00000243056	P31276		UPI000012CF7F	NM_017410.2			1/2		Pfam_domain:PF12284,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF39																	HIGH	1	SNV	1			1										PASS		rs751014305	.												T	4	4	46	53939171	53939171	C	T	1	0	0	0	0	0	1	0	0	7206	827	29	3		3	HOXC13	12	53939171	Nonsense_Mutation	SNP	C	C3N-00294_TP	1419360	53939171	79336138	851	14353											
CBX5	0	.	GRCh38	chr12	54257616	54257616	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcctcatcctctgaagaaGaactgtcagctgtccgcttg	8	11	8	14	1	3	3	2	1	1	2	6	3	6	3	4	0	2	2	4	0	3	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.35C>G	p.Ser12Cys	p.S12C	ENST00000209875	2/5	207	162	45	181	181	0	strelka-varscan-mutect	CBX5,missense_variant,p.Ser12Cys,ENST00000209875,NM_012117.2;CBX5,missense_variant,p.Ser12Cys,ENST00000439541,NM_001127321.1;CBX5,missense_variant,p.Ser12Cys,ENST00000550411,NM_001127322.1;CBX5,missense_variant,p.Ser12Cys,ENST00000552562,;RP11-968A15.2,upstream_gene_variant,,ENST00000547177,;RN7SL390P,upstream_gene_variant,,ENST00000470634,;	C	ENST00000209875	Transcript	missense_variant	172/11528	35/576	12/191	S/C	tCt/tGt		1		-1	CBX5	HGNC	HGNC:1555	protein_coding	YES	CCDS8875.1	ENSP00000209875	P45973	V9HWG0	UPI00001271FC	NM_012117.2	tolerated(0.05)		2/5		Gene3D:2.40.50.40,hmmpanther:PTHR22812,hmmpanther:PTHR22812:SF85,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	54257616	54257616	G	C	1	0	0	0	0	1	0	0	0	2421	942	33	4		4	CBX5	12	54257616	Missense_Mutation	SNP	G	C3N-00294_TP	318445	54257616	79017693	852	14354											
GDF11	0	.	GRCh38	chr12	55749612	55749612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctgctgccgatatcccctCacagtggactttgaggcttt	6	12	10	13	2	1	1	1	1	0	0	2	3	2	2	3	2	2	3	3	2	1	3			C3N-00294_TP	C3N-00294_NB	C	C																c.954C>T	p.=	p.L318L	ENST00000257868	3/3	206	161	45	223	223	0	strelka-varscan-mutect	GDF11,synonymous_variant,p.=,ENST00000257868,NM_005811.3;GDF11,synonymous_variant,p.=,ENST00000546799,;SARNP,downstream_gene_variant,,ENST00000546604,;SARNP,downstream_gene_variant,,ENST00000552884,;	T	ENST00000257868	Transcript	synonymous_variant	991/8657	954/1224	318/407	L	ctC/ctT	COSM1253148	1		1	GDF11	HGNC	HGNC:4216	protein_coding	YES	CCDS8891.1	ENSP00000257868	O95390	A0A024RB20	UPI000004C158	NM_005811.3			3/3		PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF166,Gene3D:2.10.90.10,Pfam_domain:PF00019,SMART_domains:SM00204,Superfamily_domains:SSF57501											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	46	55749612	55749612	C	T	1	0	0	0	0	0	0	0	1	6185	813	29	3		3	GDF11	12	55749612	Silent	SNP	C	C3N-00294_TP	1491996	55749612	77525697	853	14355											
STAT2	0	.	GRCh38	chr12	56349508	56349508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctgtcacacctagtggcCcctgggacagccaaagacat	10	7	9	15	0	2	1	1	0	1	1	2	2	2	2	5	2	1	0	5	2	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1259G>A	p.Gly420Glu	p.G420E	ENST00000314128	15/24	179	137	42	214	214	0	strelka-varscan-mutect	STAT2,missense_variant,p.Gly420Glu,ENST00000314128,NM_005419.3;STAT2,missense_variant,p.Gly416Glu,ENST00000557235,NM_198332.1;STAT2,missense_variant,p.Gly416Glu,ENST00000418572,;RNU7-40P,downstream_gene_variant,,ENST00000516397,;STAT2,splice_region_variant,,ENST00000556539,;STAT2,downstream_gene_variant,,ENST00000557252,;STAT2,downstream_gene_variant,,ENST00000557156,;STAT2,splice_region_variant,,ENST00000555519,;STAT2,downstream_gene_variant,,ENST00000556140,;STAT2,upstream_gene_variant,,ENST00000557199,;STAT2,upstream_gene_variant,,ENST00000555488,;	T	ENST00000314128	Transcript	missense_variant,splice_region_variant	1283/3259	1259/2556	420/851	G/E	gGg/gAg		1		-1	STAT2	HGNC	HGNC:11363	protein_coding	YES	CCDS8917.1	ENSP00000315768	P52630	R9QE65	UPI00000473FC	NM_005419.3	deleterious(0.01)		15/24		Gene3D:2.60.40.630,Pfam_domain:PF02864,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF41,Low_complexity_(Seg):seg,Superfamily_domains:SSF49417																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	56349508	56349508	C	T	1	0	0	0	0	1	0	0	0	15641	637	22	3		3	STAT2	12	56349508	Missense_Mutation	SNP	C	C3N-00294_TP	599896	56349508	76925801	854	14356											
NACA	0	.	GRCh38	chr12	56713151	56713151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttgaactttgaatttctCagcagctgctagttgtgctt	8	16	8	9	0	1	2	1	2	1	0	2	2	1	2	1	0	5	5	1	0	3	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2551G>A	p.Glu851Lys	p.E851K	ENST00000550952	9/11	217	183	34	229	229	0	strelka-varscan-mutect	NACA,missense_variant,p.Glu2004Lys,ENST00000454682,;NACA,missense_variant,p.Glu851Lys,ENST00000550952,NM_001113203.2;NACA,missense_variant,p.Glu141Lys,ENST00000356769,NM_001113202.1;NACA,missense_variant,p.Glu141Lys,ENST00000552540,NM_001113201.2;NACA,missense_variant,p.Glu141Lys,ENST00000393891,NM_005594.5;NACA,missense_variant,p.Glu62Lys,ENST00000548563,;NACA,missense_variant,p.Glu141Lys,ENST00000546392,;NACA,missense_variant,p.Glu139Lys,ENST00000550920,;NACA,missense_variant,p.Glu141Lys,ENST00000549259,;NACA,missense_variant,p.Glu137Lys,ENST00000552055,;NACA,missense_variant,p.Glu62Lys,ENST00000546862,;NACA,downstream_gene_variant,,ENST00000549855,;NACA,non_coding_transcript_exon_variant,,ENST00000548386,;NACA,non_coding_transcript_exon_variant,,ENST00000551775,;NACA,downstream_gene_variant,,ENST00000551793,;NACA,downstream_gene_variant,,ENST00000550343,;NACA,3_prime_UTR_variant,,ENST00000547914,;NACA,non_coding_transcript_exon_variant,,ENST00000546410,;NACA,downstream_gene_variant,,ENST00000551520,;NACA,downstream_gene_variant,,ENST00000548084,;	T	ENST00000550952	Transcript	missense_variant	2590/2922	2551/2778	851/925	E/K	Gag/Aag		1		-1	NACA	HGNC	HGNC:7629	protein_coding	YES	CCDS44925.2	ENSP00000448035	E9PAV3		UPI000014145D	NM_001113203.2	deleterious_low_confidence(0.03)		9/11		hmmpanther:PTHR21713:SF3,hmmpanther:PTHR21713																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	46	56713151	56713151	C	T	1	0	0	0	0	1	0	0	0	10139	835	29	3		3	NACA	12	56713151	Missense_Mutation	SNP	C	C3N-00294_TP	363643	56713151	76562158	855	14357											
GLI1	0	.	GRCh38	chr12	57467386	57467386	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacctgaagacgcacctGcggtcacacacgggtgagaa	14	4	12	11	3	1	3	1	2	0	2	1	5	1	3	2	2	2	1	2	2	4	0	rs377325662		C3N-00294_TP	C3N-00294_NB	G	G																c.966G>T	p.=	p.L322L	ENST00000228682	9/12	160	120	40	137	137	0	strelka-varscan-mutect	GLI1,synonymous_variant,p.=,ENST00000228682,NM_005269.2;GLI1,synonymous_variant,p.=,ENST00000546141,NM_001167609.1;GLI1,synonymous_variant,p.=,ENST00000543426,NM_001160045.1;GLI1,synonymous_variant,p.=,ENST00000528467,;ARHGAP9,downstream_gene_variant,,ENST00000393797,NM_001319850.1;ARHGAP9,downstream_gene_variant,,ENST00000550288,;ARHGAP9,downstream_gene_variant,,ENST00000393791,NM_032496.2;ARHGAP9,downstream_gene_variant,,ENST00000424809,NM_001080157.1;ARHGAP9,downstream_gene_variant,,ENST00000430041,NM_001080156.1;GLI1,downstream_gene_variant,,ENST00000532291,;ARHGAP9,downstream_gene_variant,,ENST00000550399,;GLI1,downstream_gene_variant,,ENST00000528432,;ARHGAP9,downstream_gene_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000552953,;GLI1,downstream_gene_variant,,ENST00000527742,;GLI1,downstream_gene_variant,,ENST00000530789,;	T	ENST00000228682	Transcript	synonymous_variant	1057/3613	966/3321	322/1106	L	ctG/ctT	rs377325662	1		1	GLI1	HGNC	HGNC:4317	protein_coding	YES	CCDS8940.1	ENSP00000228682	P08151		UPI000012B607	NM_005269.2			9/12		PROSITE_profiles:PS50157,hmmpanther:PTHR19818:SF2,hmmpanther:PTHR19818,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		rs377325662	.												T	2	4	46	57467386	57467386	G	T	1	0	0	0	0	0	0	0	1	6315	1306	46	2		2	GLI1	12	57467386	Silent	SNP	G	C3N-00294_TP	754235	57467386	75807923	856	14358											
ARHGEF25	0	.	GRCh38	chr12	57616787	57616787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatcttttcttcaggccCttggtgacatcccccaggct	6	14	8	13	0	3	2	1	2	2	0	4	2	4	2	3	3	0	1	3	3	1	5			C3N-00294_TP	C3N-00294_NB	C	C																c.1753C>A	p.Leu585Ile	p.L585I	ENST00000333972	16/16	57	45	12	56	56	0	strelka-varscan-mutect	ARHGEF25,missense_variant,p.Leu546Ile,ENST00000286494,NM_182947.3;ARHGEF25,missense_variant,p.Leu585Ile,ENST00000333972,NM_001111270.2;ARHGEF25,missense_variant,p.Leu440Ile,ENST00000616622,;SLC26A10,upstream_gene_variant,,ENST00000320442,NM_133489.2;SLC26A10,upstream_gene_variant,,ENST00000637859,;AC025165.8,intron_variant,,ENST00000356672,;AC025165.8,intron_variant,,ENST00000444467,;AC025165.8,intron_variant,,ENST00000593846,;AC025165.8,upstream_gene_variant,,ENST00000610219,;ARHGEF25,non_coding_transcript_exon_variant,,ENST00000477314,;ARHGEF25,non_coding_transcript_exon_variant,,ENST00000471370,;SLC26A10,upstream_gene_variant,,ENST00000474359,;SLC26A10,upstream_gene_variant,,ENST00000440686,;ARHGEF25,downstream_gene_variant,,ENST00000469072,;ARHGEF25,downstream_gene_variant,,ENST00000466399,;SLC26A10,upstream_gene_variant,,ENST00000497297,;SLC26A10,upstream_gene_variant,,ENST00000463802,;ARHGEF25,downstream_gene_variant,,ENST00000484357,;	A	ENST00000333972	Transcript	missense_variant	1790/2246	1753/1860	585/619	L/I	Ctt/Att	COSM1147083,COSM694936	1		1	ARHGEF25	HGNC	HGNC:30275	protein_coding	YES	CCDS44931.1	ENSP00000335560	Q86VW2		UPI000173A6BB	NM_001111270.2	tolerated_low_confidence(0.1)		16/16		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF117											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	46	57616787	57616787	C	A	1	0	0	0	0	1	0	0	0	1034	695	24	2		2	ARHGEF25	12	57616787	Missense_Mutation	SNP	C	C3N-00294_TP	149401	57616787	75658522	857	14359											
CAND1	0	.	GRCh38	chr12	67306036	67306036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttactctcagagcacagctCttactcataagcagtcttat	11	14	5	11	0	4	1	2	0	3	1	5	1	4	1	0	0	5	3	0	0	4	5			C3N-00294_TP	C3N-00294_NB	C	C																c.2368C>T	p.Leu790Phe	p.L790F	ENST00000545606	10/15	170	137	33	191	191	0	strelka-varscan-mutect	CAND1,missense_variant,p.Leu790Phe,ENST00000545606,NM_018448.4;CAND1,missense_variant,p.Leu330Phe,ENST00000544619,;CAND1,intron_variant,,ENST00000540319,;	T	ENST00000545606	Transcript	missense_variant	2805/11251	2368/3693	790/1230	L/F	Ctt/Ttt	COSM4479861	1		1	CAND1	HGNC	HGNC:30688	protein_coding	YES	CCDS8977.1	ENSP00000442318	Q86VP6		UPI0000037CC5	NM_018448.4	tolerated(0.71)		10/15		hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF1,Gene3D:1.25.10.10,Superfamily_domains:SSF48371											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	46	67306036	67306036	C	T	1	0	0	0	0	1	0	0	0	2308	913	32	3		3	CAND1	12	67306036	Missense_Mutation	SNP	C	C3N-00294_TP	9689249	67306036	65969273	858	14360											
LGR5	0	.	GRCh38	chr12	71504626	71504626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccccagagacctcagtatGaacaacatcagtcagctgct	12	7	7	15	0	3	2	3	1	0	1	3	3	3	2	4	0	4	3	4	0	3	1	rs776624521		C3N-00294_TP	C3N-00294_NB	G	G																c.225G>A	p.Met75Ile	p.M75I	ENST00000266674	2/18	220	190	30	264	264	0	strelka-varscan-mutect	LGR5,missense_variant,p.Met75Ile,ENST00000266674,NM_003667.3;LGR5,missense_variant,p.Met75Ile,ENST00000540815,NM_001277226.1;LGR5,missense_variant,p.Met75Ile,ENST00000536515,NM_001277227.1;LGR5,non_coding_transcript_exon_variant,,ENST00000550851,;	A	ENST00000266674	Transcript	missense_variant	536/4611	225/2724	75/907	M/I	atG/atA	rs776624521,COSM1705930	1		1	LGR5	HGNC	HGNC:4504	protein_coding	YES	CCDS9000.1	ENSP00000266674	O75473	A0A0A8K8C7	UPI000004B65C	NM_003667.3	deleterious(0)		2/18		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF259,Superfamily_domains:SSF52058											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs776624521	.												A	3	1	46	71504626	71504626	G	A	1	0	0	0	0	1	0	0	0	8667	1290	45	3		3	LGR5	12	71504626	Missense_Mutation	SNP	G	C3N-00294_TP	4198590	71504626	61770683	859	14361											
CEP290	0	.	GRCh38	chr12	88049351	88049351	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaattatacttaagatcttCaatttcttcaaaaaatgaag	17	15	4	5	0	4	2	2	1	2	1	4	2	4	2	0	0	1	1	0	0	9	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.7273G>T	p.Glu2425Ter	p.E2425*	ENST00000552810	54/54	89	77	12	161	161	0	strelka-mutect	CEP290,stop_gained,p.Glu2425Ter,ENST00000552810,NM_025114.3;CEP290,stop_gained,p.Glu2427Ter,ENST00000309041,;CEP290,stop_gained,p.Glu1485Ter,ENST00000547691,;C12orf29,3_prime_UTR_variant,,ENST00000356891,NM_001009894.2;RNA5SP364,upstream_gene_variant,,ENST00000516938,;C12orf29,downstream_gene_variant,,ENST00000548757,;C12orf29,downstream_gene_variant,,ENST00000549345,;C12orf29,3_prime_UTR_variant,,ENST00000550333,;C12orf29,downstream_gene_variant,,ENST00000548511,;C12orf29,downstream_gene_variant,,ENST00000547468,;C12orf29,downstream_gene_variant,,ENST00000552121,;C12orf29,downstream_gene_variant,,ENST00000552847,;C12orf29,downstream_gene_variant,,ENST00000453037,;	A	ENST00000552810	Transcript	stop_gained	7617/7948	7273/7440	2425/2479	E/*	Gaa/Taa		1		-1	CEP290	HGNC	HGNC:29021	protein_coding	YES	CCDS55858.1	ENSP00000448012	O15078		UPI0000D60D15	NM_025114.3			54/54		hmmpanther:PTHR18879:SF20,hmmpanther:PTHR18879																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	46	88049351	88049351	C	A	1	0	0	0	0	0	1	0	0	2969	835	29	2		2	CEP290	12	88049351	Nonsense_Mutation	SNP	C	C3N-00294_TP	16544725	88049351	45225958	860	14362											
CEP290	0	.	GRCh38	chr12	88131212	88131212	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgcctcctcatttcgaaGagccaactaaaatagtaaaa	15	11	5	10	1	2	1	1	0	1	1	4	2	3	1	3	0	3	1	3	0	7	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.448C>G	p.Leu150Val	p.L150V	ENST00000552810	7/54	41	35	6	88	88	0	strelka-varscan-mutect	CEP290,missense_variant,p.Leu150Val,ENST00000552810,NM_025114.3;CEP290,missense_variant,p.Leu150Val,ENST00000309041,;CEP290,missense_variant,p.Leu150Val,ENST00000397838,;CEP290,intron_variant,,ENST00000550962,;CEP290,upstream_gene_variant,,ENST00000604024,;CEP290,downstream_gene_variant,,ENST00000552770,;CEP290,missense_variant,p.Leu116Val,ENST00000547926,;	C	ENST00000552810	Transcript	missense_variant	792/7948	448/7440	150/2479	L/V	Ctt/Gtt		1		-1	CEP290	HGNC	HGNC:29021	protein_coding	YES	CCDS55858.1	ENSP00000448012	O15078		UPI0000D60D15	NM_025114.3	tolerated(0.23)		7/54		Low_complexity_(Seg):seg,hmmpanther:PTHR18879:SF20,hmmpanther:PTHR18879,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		rs1162631374	.												C	3	2	46	88131212	88131212	G	C	1	0	0	0	0	1	0	0	0	2969	942	33	4		4	CEP290	12	88131212	Missense_Mutation	SNP	G	C3N-00294_TP	81861	88131212	45144097	861	14363											
LTA4H	0	.	GRCh38	chr12	96018904	96018904	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttaagcatagattcagtCtgaaaaatcaacatatatat	18	14	4	5	0	3	2	2	1	1	1	3	2	3	2	0	0	2	1	0	0	8	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.712-1G>T		p.X238_splice	ENST00000228740		53	36	17	56	56	0	strelka-varscan-mutect	LTA4H,splice_acceptor_variant,,ENST00000228740,NM_000895.2;LTA4H,splice_acceptor_variant,,ENST00000552789,NM_001256643.1;LTA4H,splice_acceptor_variant,,ENST00000413268,NM_001256644.1;LTA4H,upstream_gene_variant,,ENST00000548375,;LTA4H,splice_acceptor_variant,,ENST00000553041,;LTA4H,splice_acceptor_variant,,ENST00000548852,;LTA4H,upstream_gene_variant,,ENST00000547982,;LTA4H,upstream_gene_variant,,ENST00000552091,;	A	ENST00000228740	Transcript	splice_acceptor_variant	-/2139	712/1836	238/611				1		-1	LTA4H	HGNC	HGNC:6710	protein_coding	YES	CCDS9059.1	ENSP00000228740	P09960	A0A140VK27	UPI0000111C40	NM_000895.2				7/18																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	46	96018904	96018904	C	A	1	0	0	0	0	0	0	1	0	8975	927	32	2		2	LTA4H	12	96018904	Splice_Site	SNP	C	C3N-00294_TP	7887692	96018904	37256405	862	14364											
TMPO	0	.	GRCh38	chr12	98516140	98516140	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccggagccgagcagccgtCggcagggtaaggacgcgggg	7	2	21	11	6	0	0	0	0	0	0	1	3	0	2	3	7	3	3	3	7	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.273C>T	p.=	p.V91V	ENST00000266732	1/4	43	38	5	42	42	0	strelka-varscan-mutect	TMPO,synonymous_variant,p.=,ENST00000556029,NM_001032283.2;TMPO,synonymous_variant,p.=,ENST00000266732,NM_003276.2;TMPO,synonymous_variant,p.=,ENST00000343315,NM_001307975.1;TMPO,synonymous_variant,p.=,ENST00000393053,NM_001032284.2;TMPO,synonymous_variant,p.=,ENST00000261210,;TMPO-AS1,non_coding_transcript_exon_variant,,ENST00000548760,;TMPO-AS1,non_coding_transcript_exon_variant,,ENST00000546421,;TMPO,non_coding_transcript_exon_variant,,ENST00000546828,;TMPO,non_coding_transcript_exon_variant,,ENST00000548911,;TMPO,upstream_gene_variant,,ENST00000549938,;	T	ENST00000266732	Transcript	synonymous_variant	511/3615	273/2085	91/694	V	gtC/gtT		1		1	TMPO	HGNC	HGNC:11875	protein_coding	YES	CCDS9064.1	ENSP00000266732	P42166		UPI000013D709	NM_003276.2			1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR12019:SF10,hmmpanther:PTHR12019																	LOW	1	SNV	1			1										PASS		rs1459534403	.												T	2	4	46	98516140	98516140	C	T	1	0	0	0	0	0	0	0	1	16713	871	31	1		1	TMPO	12	98516140	Silent	SNP	C	C3N-00294_TP	2497236	98516140	34759169	863	14365											
TMPO	0	.	GRCh38	chr12	98533999	98533999	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcagcatcagcattgcAgattgcaactcacactgcct	11	9	8	13	0	2	1	2	0	0	1	2	1	2	1	1	0	8	6	1	0	1	2	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.1742A>T	p.Gln581Leu	p.Q581L	ENST00000266732	4/4	67	38	29	84	84	0	strelka-varscan-mutect	TMPO,missense_variant,p.Gln581Leu,ENST00000266732,NM_003276.2;TMPO,intron_variant,,ENST00000556029,NM_001032283.2;TMPO,intron_variant,,ENST00000343315,NM_001307975.1;TMPO,intron_variant,,ENST00000393053,NM_001032284.2;TMPO,intron_variant,,ENST00000261210,;TMPO,intron_variant,,ENST00000556678,;TMPO,downstream_gene_variant,,ENST00000547214,;TMPO,downstream_gene_variant,,ENST00000549938,;TMPO,downstream_gene_variant,,ENST00000546828,;TMPO,intron_variant,,ENST00000552831,;	T	ENST00000266732	Transcript	missense_variant	1980/3615	1742/2085	581/694	Q/L	cAg/cTg		1		1	TMPO	HGNC	HGNC:11875	protein_coding	YES	CCDS9064.1	ENSP00000266732	P42166		UPI000013D709	NM_003276.2	deleterious_low_confidence(0.02)		4/4		hmmpanther:PTHR12019,hmmpanther:PTHR12019:SF10,Pfam_domain:PF11560																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	98533999	98533999	A	T	1	0	0	0	0	1	0	0	0	16713	188	7	4		4	TMPO	12	98533999	Missense_Mutation	SNP	A	C3N-00294_TP	17859	98533999	34741310	864	14366											
TMPO	0	.	GRCh38	chr12	98545054	98545054	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaaagaaaccattgacaaGagctgaagtaaatgaataca	21	6	7	7	0	0	5	0	3	0	2	0	5	0	5	2	0	3	2	2	0	8	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.983G>C	p.Arg328Thr	p.R328T	ENST00000556029	7/9	186	175	11	267	266	1	strelka-varscan-mutect	TMPO,missense_variant,p.Arg328Thr,ENST00000556029,NM_001032283.2;TMPO,missense_variant,p.Arg288Thr,ENST00000343315,NM_001307975.1;TMPO,missense_variant,p.Arg163Thr,ENST00000556678,;TMPO,intron_variant,,ENST00000393053,NM_001032284.2;TMPO,non_coding_transcript_exon_variant,,ENST00000548223,;TMPO,non_coding_transcript_exon_variant,,ENST00000551987,;	C	ENST00000556029	Transcript	missense_variant	1339/4242	983/1365	328/454	R/T	aGa/aCa		1		1	TMPO	HGNC	HGNC:11875	protein_coding		CCDS31879.1	ENSP00000450627	P42167	A0A024RBE7	UPI0000143267	NM_001032283.2	tolerated(0.66)		7/9		hmmpanther:PTHR12019,hmmpanther:PTHR12019:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	98545054	98545054	G	C	1	0	0	0	0	1	0	0	0	16713	942	33	4		4	TMPO	12	98545054	Missense_Mutation	SNP	G	C3N-00294_TP	11055	98545054	34730255	865	14367											
IKBIP	0	.	GRCh38	chr12	98644633	98644633	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggtcttcccgccctcgctCcgcttcccgggctccgcagc	1	8	12	20	5	1	0	0	0	1	0	6	0	5	0	5	3	1	4	5	3	0	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.69G>T	p.=	p.R23R	ENST00000299157	1/3	126	103	23	165	165	0	strelka-varscan-mutect	IKBIP,synonymous_variant,p.=,ENST00000299157,NM_153687.3;IKBIP,synonymous_variant,p.=,ENST00000342502,NM_201612.2;IKBIP,synonymous_variant,p.=,ENST00000393042,NM_201613.2;APAF1,upstream_gene_variant,,ENST00000357310,NM_181868.1;APAF1,upstream_gene_variant,,ENST00000359972,NM_001160.2;APAF1,upstream_gene_variant,,ENST00000550527,NM_013229.2;APAF1,upstream_gene_variant,,ENST00000551964,NM_181861.1;APAF1,upstream_gene_variant,,ENST00000333991,NM_181869.1;APAF1,upstream_gene_variant,,ENST00000547045,;APAF1,upstream_gene_variant,,ENST00000549007,;APAF1,upstream_gene_variant,,ENST00000552268,;APAF1,upstream_gene_variant,,ENST00000547743,;	A	ENST00000299157	Transcript	synonymous_variant	443/3189	69/1134	23/377	R	cgG/cgT		1		-1	IKBIP	HGNC	HGNC:26430	protein_coding	YES	CCDS9068.1	ENSP00000299157	Q70UQ0		UPI0000070C12	NM_153687.3			1/3		hmmpanther:PTHR21734:SF11,hmmpanther:PTHR21734																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	98644633	98644633	C	A	1	0	0	0	0	0	0	0	1	7517	842	30	2		2	IKBIP	12	98644633	Silent	SNP	C	C3N-00294_TP	99579	98644633	34630676	866	14368											
UHRF1BP1L	0	.	GRCh38	chr12	100039754	100039754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatcgcttttgacattttCtttcaaatcatttccagtgt	9	19	5	8	1	3	2	2	2	1	0	5	2	4	2	1	0	0	1	1	0	2	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.4117G>C	p.Glu1373Gln	p.E1373Q	ENST00000279907	20/21	152	118	34	148	148	0	strelka-varscan-mutect	UHRF1BP1L,missense_variant,p.Glu1373Gln,ENST00000279907,NM_015054.1;UHRF1BP1L,missense_variant,p.Glu1023Gln,ENST00000545232,;UHRF1BP1L,missense_variant,p.Glu134Gln,ENST00000548712,;	G	ENST00000279907	Transcript	missense_variant	4330/5168	4117/4395	1373/1464	E/Q	Gaa/Caa		1		-1	UHRF1BP1L	HGNC	HGNC:29102	protein_coding	YES	CCDS31882.1	ENSP00000279907	A0JNW5		UPI0000160563	NM_015054.1	tolerated(0.42)		20/21		hmmpanther:PTHR22774,hmmpanther:PTHR22774:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	100039754	100039754	C	G	1	0	0	0	0	1	0	0	0	17493	922	32	4		4	UHRF1BP1L	12	100039754	Missense_Mutation	SNP	C	C3N-00294_TP	1395121	100039754	33235555	867	14369											
SCYL2	0	.	GRCh38	chr12	100314568	100314568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagataatcttcagaaatCacagtttttcaaaggactgc	16	11	7	7	0	4	2	3	0	1	2	4	4	4	3	0	1	1	1	0	1	4	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1049C>T	p.Ser350Leu	p.S350L	ENST00000360820	8/18	108	82	26	169	169	0	strelka-varscan-mutect	SCYL2,missense_variant,p.Ser350Leu,ENST00000360820,NM_001317784.1,NM_017988.4;SCYL2,missense_variant,p.Ser350Leu,ENST00000635101,;SCYL2,missense_variant,p.Ser350Leu,ENST00000549687,;SCYL2,downstream_gene_variant,,ENST00000548392,;SCYL2,upstream_gene_variant,,ENST00000553148,;SCYL2,upstream_gene_variant,,ENST00000550251,;	T	ENST00000360820	Transcript	missense_variant	1486/5779	1049/2790	350/929	S/L	tCa/tTa		1		1	SCYL2	HGNC	HGNC:19286	protein_coding	YES	CCDS9076.1	ENSP00000354061	Q6P3W7		UPI000004FD59	NM_001317784.1,NM_017988.4	deleterious(0)		8/18		hmmpanther:PTHR12984:SF6,hmmpanther:PTHR12984,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	100314568	100314568	C	T	1	0	0	0	0	1	0	0	0	14220	838	29	3		3	SCYL2	12	100314568	Missense_Mutation	SNP	C	C3N-00294_TP	274814	100314568	32960741	868	14370											
ACAD10	0	.	GRCh38	chr12	111747174	111747174	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccgctcctgttttgctatGaccgagccccaggtacgtcg	5	10	11	15	4	0	1	0	1	0	0	2	2	1	1	5	1	3	4	5	1	2	4			C3N-00294_TP	C3N-00294_NB	G	G																c.2475G>C	p.Met825Ile	p.M825I	ENST00000455480	16/22	65	54	11	55	55	0	strelka-varscan-mutect	ACAD10,missense_variant,p.Met825Ile,ENST00000455480,NM_001136538.1;ACAD10,missense_variant,p.Met794Ile,ENST00000313698,NM_025247.5;ACAD10,downstream_gene_variant,,ENST00000549590,;ACAD10,downstream_gene_variant,,ENST00000507683,;ACAD10,downstream_gene_variant,,ENST00000515283,;ACAD10,non_coding_transcript_exon_variant,,ENST00000413681,;ACAD10,non_coding_transcript_exon_variant,,ENST00000508303,;ACAD10,non_coding_transcript_exon_variant,,ENST00000550198,;ACAD10,non_coding_transcript_exon_variant,,ENST00000505487,;ACAD10,upstream_gene_variant,,ENST00000507688,;ACAD10,non_coding_transcript_exon_variant,,ENST00000504803,;ACAD10,non_coding_transcript_exon_variant,,ENST00000546647,;ACAD10,upstream_gene_variant,,ENST00000547491,;ACAD10,downstream_gene_variant,,ENST00000552177,;	C	ENST00000455480	Transcript	missense_variant	2652/4071	2475/3273	825/1090	M/I	atG/atC	COSM5316218,COSM5316219,COSM5316220	1		1	ACAD10	HGNC	HGNC:21597	protein_coding	YES	CCDS44973.1	ENSP00000389813	Q6JQN1		UPI000013F5E7	NM_001136538.1	deleterious(0.01)		16/22		hmmpanther:PTHR10909:SF221,hmmpanther:PTHR10909,Pfam_domain:PF02770,Gene3D:2.40.110.10,Superfamily_domains:SSF56645											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												C	3	2	46	111747174	111747174	G	C	1	0	0	0	0	1	0	0	0	151	1290	45	4		4	ACAD10	12	111747174	Missense_Mutation	SNP	G	C3N-00294_TP	11432606	111747174	21528135	869	14371											
SDS	0	.	GRCh38	chr12	113393055	113393055	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggatggcagcggggttcgGagattcccctccagttggag	7	8	17	9	2	0	1	0	0	0	1	3	4	2	3	3	6	1	3	3	6	0	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.873C>A	p.=	p.L291L	ENST00000257549	8/8	216	123	93	213	213	0	strelka-varscan-mutect	SDS,synonymous_variant,p.=,ENST00000257549,NM_006843.2;PLBD2,downstream_gene_variant,,ENST00000280800,NM_173542.3;PLBD2,downstream_gene_variant,,ENST00000545182,NM_001159727.1;SDS,downstream_gene_variant,,ENST00000552280,;SDS,downstream_gene_variant,,ENST00000553112,;	T	ENST00000257549	Transcript	synonymous_variant	996/1606	873/987	291/328	L	ctC/ctA		1		-1	SDS	HGNC	HGNC:10691	protein_coding	YES	CCDS9169.1	ENSP00000257549	P20132		UPI000013CF6B	NM_006843.2			8/8		hmmpanther:PTHR10314:SF103,hmmpanther:PTHR10314,Pfam_domain:PF00291,Gene3D:3.40.50.1100,Superfamily_domains:SSF53686																	LOW		SNV	2			1										PASS		.	.												T	2	4	46	113393055	113393055	G	T	1	0	0	0	0	0	0	0	1	14251	1161	41	2		2	SDS	12	113393055	Silent	SNP	G	C3N-00294_TP	1645881	113393055	19882254	870	14372											
GCN1	0	.	GRCh38	chr12	120137934	120137934	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggtcccaagcttttccttCagggccagcatgaccgctgg	6	9	13	13	1	1	1	1	1	0	0	3	1	3	1	4	4	2	3	4	4	1	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.6360G>A	p.=	p.L2120L	ENST00000300648	48/58	121	96	25	162	162	0	strelka-varscan-mutect	GCN1,synonymous_variant,p.=,ENST00000300648,NM_006836.1;GCN1,upstream_gene_variant,,ENST00000549815,;GCN1,downstream_gene_variant,,ENST00000547263,;	T	ENST00000300648	Transcript	synonymous_variant	6373/8675	6360/8016	2120/2671	L	ctG/ctA		1		-1	GCN1	HGNC	HGNC:4199	protein_coding	YES	CCDS41847.1	ENSP00000300648	Q92616		UPI0000451CA7	NM_006836.1			48/58		hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	120137934	120137934	C	T	1	0	0	0	0	0	0	0	1	6169	813	29	3		3	GCN1	12	120137934	Silent	SNP	C	C3N-00294_TP	6744879	120137934	13137375	871	14373											
MLXIP	0	.	GRCh38	chr12	122135578	122135578	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgcccccgtctcccggctCttcccaagcacagcgcaaga	7	6	8	20	3	2	1	0	0	2	1	4	1	3	1	5	1	3	3	5	1	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1944C>T	p.=	p.L648L	ENST00000319080	11/17	104	79	25	93	93	0	strelka-varscan-mutect	MLXIP,synonymous_variant,p.=,ENST00000319080,NM_014938.5;MLXIP,synonymous_variant,p.=,ENST00000538698,;MLXIP,synonymous_variant,p.=,ENST00000366272,;MLXIP,downstream_gene_variant,,ENST00000535430,;MLXIP,downstream_gene_variant,,ENST00000377037,;MLXIP,upstream_gene_variant,,ENST00000542417,;MLXIP,downstream_gene_variant,,ENST00000535996,;MLXIP,non_coding_transcript_exon_variant,,ENST00000541750,;MLXIP,downstream_gene_variant,,ENST00000539861,;MLXIP,downstream_gene_variant,,ENST00000538061,;	T	ENST00000319080	Transcript	synonymous_variant	2076/8427	1944/2760	648/919	L	ctC/ctT		1		1	MLXIP	HGNC	HGNC:17055	protein_coding	YES	CCDS73540.1	ENSP00000312834	Q9HAP2		UPI0000D6226F	NM_014938.5			11/17		hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	122135578	122135578	C	T	1	0	0	0	0	0	0	0	1	9599	900	32	3		3	MLXIP	12	122135578	Silent	SNP	C	C3N-00294_TP	1997644	122135578	11139731	872	14374											
LRRC43	0	.	GRCh38	chr12	122192788	122192788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaattattagttgaggaatCtcctgaagaggtcgtggaag	13	11	13	4	1	1	4	0	2	1	2	3	6	1	6	1	3	0	1	1	3	6	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1133C>T	p.Ser378Phe	p.S378F	ENST00000339777	7/12	203	165	38	253	253	0	strelka-varscan-mutect	LRRC43,missense_variant,p.Ser378Phe,ENST00000339777,NM_152759.4,NM_001098519.1;LRRC43,downstream_gene_variant,,ENST00000537729,;LRRC43,intron_variant,,ENST00000541498,;LRRC43,downstream_gene_variant,,ENST00000537113,;	T	ENST00000339777	Transcript	missense_variant	1161/2028	1133/1971	378/656	S/F	tCt/tTt		1		1	LRRC43	HGNC	HGNC:28562	protein_coding	YES	CCDS45001.1	ENSP00000344233	Q8N309		UPI00015347BE	NM_152759.4,NM_001098519.1	tolerated(0.41)		7/12		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	122192788	122192788	C	T	1	0	0	0	0	1	0	0	0	8897	913	32	3		3	LRRC43	12	122192788	Missense_Mutation	SNP	C	C3N-00294_TP	57210	122192788	11082521	873	14375											
B3GNT4	0	.	GRCh38	chr12	122207187	122207187	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctttgtgggtatgtgcctGaggcggctggggctgagccc	3	11	18	9	1	1	2	0	2	1	0	1	2	1	2	2	5	2	3	2	5	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.936G>C	p.=	p.L312L	ENST00000324189	3/3	92	74	18	102	102	0	strelka-varscan-mutect	B3GNT4,synonymous_variant,p.=,ENST00000535274,;B3GNT4,synonymous_variant,p.=,ENST00000546192,;B3GNT4,synonymous_variant,p.=,ENST00000324189,NM_030765.2;DIABLO,downstream_gene_variant,,ENST00000464942,NM_001278304.1;DIABLO,downstream_gene_variant,,ENST00000443649,NM_019887.5;LRRC43,downstream_gene_variant,,ENST00000339777,NM_152759.4,NM_001098519.1;DIABLO,downstream_gene_variant,,ENST00000413918,NM_001278303.1;DIABLO,downstream_gene_variant,,ENST00000353548,NM_001278342.1;DIABLO,downstream_gene_variant,,ENST00000267169,NM_138930.3;DIABLO,downstream_gene_variant,,ENST00000474004,;DIABLO,downstream_gene_variant,,ENST00000541656,;DIABLO,downstream_gene_variant,,ENST00000540535,;DIABLO,downstream_gene_variant,,ENST00000439489,;DIABLO,downstream_gene_variant,,ENST00000446652,;DIABLO,downstream_gene_variant,,ENST00000541273,NM_001278302.1;B3GNT4,intron_variant,,ENST00000545141,;LRRC43,downstream_gene_variant,,ENST00000537733,;B3GNT4,downstream_gene_variant,,ENST00000537991,;B3GNT4,downstream_gene_variant,,ENST00000538257,;RP11-512M8.5,downstream_gene_variant,,ENST00000535844,;DIABLO,downstream_gene_variant,,ENST00000342392,;	C	ENST00000324189	Transcript	synonymous_variant	1292/1642	936/1137	312/378	L	ctG/ctC		1		1	B3GNT4	HGNC	HGNC:15683	protein_coding	YES	CCDS9227.1	ENSP00000319636	Q9C0J1	A0A024RBT1	UPI0000051E30	NM_030765.2			3/3		hmmpanther:PTHR11214:SF137,hmmpanther:PTHR11214,Pfam_domain:PF01762																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	46	122207187	122207187	G	C	1	0	0	0	0	0	0	0	1	1415	1277	45	4		4	B3GNT4	12	122207187	Silent	SNP	G	C3N-00294_TP	14399	122207187	11068122	874	14376											
KNTC1	0	.	GRCh38	chr12	122568298	122568298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttctaaataatgaagatGatcttaaagatattttttta	17	18	4	2	0	2	4	0	2	2	2	2	4	2	4	0	0	0	0	0	0	9	9			C3N-00294_TP	C3N-00294_NB	G	G																c.1642G>A	p.Asp548Asn	p.D548N	ENST00000333479	21/64	97	79	18	158	158	0	strelka-varscan-mutect	KNTC1,missense_variant,p.Asp548Asn,ENST00000333479,NM_014708.4;KNTC1,missense_variant,p.Asp511Asn,ENST00000450485,;RP11-324E6.8,upstream_gene_variant,,ENST00000543745,;	A	ENST00000333479	Transcript	missense_variant	1819/6975	1642/6630	548/2209	D/N	Gat/Aat	COSM4816979	1		1	KNTC1	HGNC	HGNC:17255	protein_coding	YES	CCDS45002.1	ENSP00000328236	P50748		UPI0000047FD6	NM_014708.4	tolerated(0.31)		21/64		hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	46	122568298	122568298	G	A	1	0	0	0	0	1	0	0	0	8308	1290	45	3		3	KNTC1	12	122568298	Missense_Mutation	SNP	G	C3N-00294_TP	361111	122568298	10707011	875	14377											
TCTN2	0	.	GRCh38	chr12	123671307	123671307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagggcatcctgaggcttCtgtggggggacctgggtgtg	4	10	19	8	0	1	1	0	1	1	0	2	2	2	2	2	6	1	3	2	6	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.67C>T	p.=	p.L23L	ENST00000303372	1/18	328	296	32	372	372	0	strelka-varscan-mutect	TCTN2,synonymous_variant,p.=,ENST00000303372,NM_024809.4;TCTN2,synonymous_variant,p.=,ENST00000426174,NM_001143850.2;TCTN2,synonymous_variant,p.=,ENST00000541523,;	T	ENST00000303372	Transcript	synonymous_variant	195/2912	67/2094	23/697	L	Ctg/Ttg		1		1	TCTN2	HGNC	HGNC:25774	protein_coding	YES	CCDS9253.1	ENSP00000304941	Q96GX1		UPI0000038A56	NM_024809.4			1/18		hmmpanther:PTHR14611,hmmpanther:PTHR14611:SF2,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	123671307	123671307	C	T	1	0	0	0	0	0	0	0	1	16131	912	32	3		3	TCTN2	12	123671307	Silent	SNP	C	C3N-00294_TP	1103009	123671307	9604002	876	14378											
DNAH10	0	.	GRCh38	chr12	123879314	123879314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaggaatgagtgtctgaGagtcttccacgaccggctga	9	9	14	9	2	2	3	0	3	2	1	3	7	3	5	2	3	0	1	2	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.8069G>A	p.Arg2690Lys	p.R2690K	ENST00000638045	48/78	153	124	29	149	149	0	strelka-varscan-mutect	DNAH10,missense_variant,p.Arg2751Lys,ENST00000409039,;DNAH10,missense_variant,p.Arg2690Lys,ENST00000638045,NM_207437.3;DNAH10,3_prime_UTR_variant,,ENST00000497783,;	A	ENST00000638045	Transcript	missense_variant	8094/13678	8069/13416	2690/4471	R/K	aGa/aAa		1		1	DNAH10	HGNC	HGNC:2941	protein_coding	YES	CCDS9255.2	ENSP00000489675			UPI00014F7B89	NM_207437.3	deleterious(0)		48/78		hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Superfamily_domains:SSF52540																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	46	123879314	123879314	G	A	1	0	0	0	0	1	0	0	0	4411	942	33	3		3	DNAH10	12	123879314	Missense_Mutation	SNP	G	C3N-00294_TP	208007	123879314	9395995	877	14379											
TMEM132D	0	.	GRCh38	chr12	129699977	129699977	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgataaaggaagatgctcccGatcctctgcaaggggggccc	10	7	13	11	1	1	2	0	1	1	1	3	4	3	3	3	4	2	2	3	4	4	1			C3N-00294_TP	C3N-00294_NB	G	G																c.801C>T	p.=	p.I267I	ENST00000422113	2/9	302	233	69	297	297	0	strelka-varscan-mutect	TMEM132D,synonymous_variant,p.=,ENST00000422113,NM_133448.2;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	A	ENST00000422113	Transcript	synonymous_variant	1128/5776	801/3300	267/1099	I	atC/atT	COSM81825	1		-1	TMEM132D	HGNC	HGNC:29411	protein_coding	YES	CCDS9266.1	ENSP00000408581	Q14C87		UPI000023759C	NM_133448.2			2/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF2											1						LOW	1	SNV	1		1	1										PASS		rs907461232	.												A	2	1	46	129699977	129699977	G	A	1	0	0	0	0	0	0	0	1	16492	1048	37	1		1	TMEM132D	12	129699977	Silent	SNP	G	C3N-00294_TP	5820663	129699977	3575332	878	14380											
SFSWAP	0	.	GRCh38	chr12	131778179	131778179	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatccaccgagagaagaaGagaaagaaaagaaaaagaaa	26	1	10	4	1	0	7	0	0	0	7	1	10	1	7	2	0	0	0	2	0	9	0			C3N-00294_TP	C3N-00294_NB	G	G																c.2257G>C	p.Glu753Gln	p.E753Q	ENST00000541286	14/19	311	257	54	330	330	0	strelka-varscan-mutect	SFSWAP,missense_variant,p.Glu753Gln,ENST00000261674,NM_004592.3;SFSWAP,missense_variant,p.Glu753Gln,ENST00000541286,NM_001261411.1;SFSWAP,missense_variant,p.Glu316Gln,ENST00000537164,;SFSWAP,3_prime_UTR_variant,,ENST00000538548,;SFSWAP,non_coding_transcript_exon_variant,,ENST00000535236,;	C	ENST00000541286	Transcript	missense_variant	2350/3219	2257/3012	753/1003	E/Q	Gag/Cag	COSM5440844	1		1	SFSWAP	HGNC	HGNC:10790	protein_coding	YES	CCDS58290.1	ENSP00000437738	Q12872		UPI000204AB4C	NM_001261411.1	deleterious_low_confidence(0.01)		14/19		hmmpanther:PTHR13161,hmmpanther:PTHR13161:SF15,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	46	131778179	131778179	G	C	1	0	0	0	0	1	0	0	0	14444	943	33	4		4	SFSWAP	12	131778179	Missense_Mutation	SNP	G	C3N-00294_TP	2078202	131778179	1497130	879	14381											
EP400	0	.	GRCh38	chr12	131982170	131982170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcagtatgacccctccacgGggcctcccgtgcagaacgct	8	6	11	16	3	0	2	0	1	0	1	2	2	2	2	5	2	3	4	5	2	2	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1621G>T	p.Gly541Trp	p.G541W	ENST00000389562	4/52	66	38	28	57	57	0	strelka-varscan-mutect	EP400,missense_variant,p.Gly541Trp,ENST00000389562,;EP400,missense_variant,p.Gly541Trp,ENST00000389561,NM_015409.4;EP400,missense_variant,p.Gly577Trp,ENST00000333577,;EP400,missense_variant,p.Gly504Trp,ENST00000332482,;	T	ENST00000389562	Transcript	missense_variant	1656/12836	1621/9372	541/3123	G/W	Ggg/Tgg		1		1	EP400	HGNC	HGNC:11958	protein_coding	YES	CCDS31929.2	ENSP00000374213	Q96L91		UPI00004566BC		deleterious_low_confidence(0)		4/52		hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	131982170	131982170	G	T	1	0	0	0	0	1	0	0	0	4995	1232	43	2		2	EP400	12	131982170	Missense_Mutation	SNP	G	C3N-00294_TP	203991	131982170	1293139	880	14382											
POLE	0	.	GRCh38	chr12	132672721	132672721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctcagagtccagcacgtgtCcgtcgtccgtcagcttattg	6	12	10	13	4	2	1	2	0	1	1	7	1	5	1	3	0	2	2	3	0	1	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1592G>A	p.Gly531Glu	p.G531E	ENST00000320574	15/49	484	382	102	518	518	0	strelka-varscan-mutect	POLE,missense_variant,p.Gly531Glu,ENST00000320574,NM_006231.3;POLE,missense_variant,p.Gly504Glu,ENST00000535270,;POLE,non_coding_transcript_exon_variant,,ENST00000539215,;POLE,3_prime_UTR_variant,,ENST00000537064,;POLE,non_coding_transcript_exon_variant,,ENST00000535934,;POLE,non_coding_transcript_exon_variant,,ENST00000545015,;	T	ENST00000320574	Transcript	missense_variant	1636/7840	1592/6861	531/2286	G/E	gGa/gAa		1		-1	POLE	HGNC	HGNC:9177	protein_coding	YES	CCDS9278.1	ENSP00000322570	Q07864		UPI00001FBF97	NM_006231.3	deleterious(0)		15/49		hmmpanther:PTHR10670,SMART_domains:SM00486,Superfamily_domains:SSF56672																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	132672721	132672721	C	T	1	0	0	0	0	1	0	0	0	12306	855	30	3		3	POLE	12	132672721	Missense_Mutation	SNP	C	C3N-00294_TP	690551	132672721	602588	881	14383											
CHFR	0	.	GRCh38	chr12	132861474	132861474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagacactaacctcctctCattttcttcttcacgggctc	8	13	4	16	1	4	1	2	0	3	1	7	1	5	1	3	1	1	1	3	1	1	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.780G>A	p.Met260Ile	p.M260I	ENST00000432561	7/18	70	53	17	89	89	0	strelka-varscan-mutect	CHFR,missense_variant,p.Met219Ile,ENST00000266880,NM_018223.2;CHFR,missense_variant,p.Met248Ile,ENST00000450056,NM_001161346.1;CHFR,missense_variant,p.Met168Ile,ENST00000443047,NM_001161347.1;CHFR,missense_variant,p.Met260Ile,ENST00000432561,NM_001161344.1,NM_001161345.1;CHFR,missense_variant,p.Met120Ile,ENST00000541817,;CHFR,downstream_gene_variant,,ENST00000540963,;RP11-46H11.11,downstream_gene_variant,,ENST00000623177,;CHFR,missense_variant,p.Met60Ile,ENST00000315585,;CHFR,non_coding_transcript_exon_variant,,ENST00000535897,;CHFR,upstream_gene_variant,,ENST00000535527,;	T	ENST00000432561	Transcript	missense_variant	854/2648	780/1995	260/664	M/I	atG/atA		1		-1	CHFR	HGNC	HGNC:20455	protein_coding	YES	CCDS53849.1	ENSP00000392395	Q96EP1		UPI000006FA02	NM_001161344.1,NM_001161345.1	tolerated(0.43)		7/18																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	132861474	132861474	C	T	1	0	0	0	0	1	0	0	0	3096	826	29	3		3	CHFR	12	132861474	Missense_Mutation	SNP	C	C3N-00294_TP	188753	132861474	413835	882	14384											
SACS	0	.	GRCh38	chr13	23330240	23330240	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacctgtcatttgggatctGaggaaagggaagcaaatcag	14	8	13	6	0	3	1	2	1	1	0	3	5	3	4	1	3	2	1	1	3	4	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.13636C>T	p.Gln4546Ter	p.Q4546*	ENST00000382292	9/9	153	114	39	239	239	0	strelka-varscan-mutect	SACS,stop_gained,p.Gln4546Ter,ENST00000382292,NM_014363.5;SACS,stop_gained,p.Gln3796Ter,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	A	ENST00000382292	Transcript	stop_gained	13910/15324	13636/13740	4546/4579	Q/*	Cag/Tag		1		-1	SACS	HGNC	HGNC:10519	protein_coding	YES	CCDS9300.2	ENSP00000371729	Q9NZJ4		UPI000047039D	NM_014363.5			9/9		Gene3D:1.20.120.330,Pfam_domain:PF05168,PROSITE_profiles:PS50910,hmmpanther:PTHR15600,hmmpanther:PTHR15600:SF28,SMART_domains:SM00748,Superfamily_domains:SSF81593																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	46	23330240	23330240	G	A	1	0	0	0	0	0	1	0	0	14063	1299	45	3		3	SACS	13	23330240	Nonsense_Mutation	SNP	G	C3N-00294_TP		23330240	91034088	883	14385											
FRY	0	.	GRCh38	chr13	32131777	32131777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcttaataatgggcatGaaattctttcgaattaagat	15	14	7	5	1	2	2	1	1	1	1	3	3	2	2	0	1	1	2	0	1	5	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.822G>T	p.Met274Ile	p.M274I	ENST00000542859	8/61	190	141	49	264	263	1	strelka-varscan-mutect	FRY,missense_variant,p.Met274Ile,ENST00000542859,NM_023037.2;FRY,missense_variant,p.Met274Ile,ENST00000380250,;	T	ENST00000542859	Transcript	missense_variant	1318/13200	822/9042	274/3013	M/I	atG/atT		1		1	FRY	HGNC	HGNC:20367	protein_coding	YES	CCDS41875.1	ENSP00000445043	Q5TBA9		UPI000046FD40	NM_023037.2	deleterious(0.01)		8/61		Pfam_domain:PF14222,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	32131777	32131777	G	T	1	0	0	0	0	1	0	0	0	5935	1290	45	2		2	FRY	13	32131777	Missense_Mutation	SNP	G	C3N-00294_TP	8801537	32131777	82232551	884	14386											
BRCA2	0	.	GRCh38	chr13	32340770	32340770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcaaataacttaaatgttGaaggtggttcttcagaaaat	16	14	7	4	0	3	2	2	1	1	1	3	2	3	2	0	2	1	2	0	2	8	6	rs763639231		C3N-00294_TP	C3N-00294_NB	G	G																c.6415G>C	p.Glu2139Gln	p.E2139Q	ENST00000380152	11/27	15	11	4	53	53	0	strelka-varscan-mutect	BRCA2,missense_variant,p.Glu2139Gln,ENST00000380152,;BRCA2,missense_variant,p.Glu2139Gln,ENST00000544455,NM_000059.3;BRCA2,non_coding_transcript_exon_variant,,ENST00000614259,;	C	ENST00000380152	Transcript	missense_variant	6648/11986	6415/10257	2139/3418	E/Q	Gaa/Caa	rs763639231	1		1	BRCA2	HGNC	HGNC:1101	protein_coding	YES	CCDS9344.1	ENSP00000369497	P51587		UPI00001FCBCC		deleterious(0.03)		11/27		hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,PIRSF_domain:PIRSF002397																	MODERATE	1	SNV	5			1										PASS		rs763639231	.												C	3	2	46	32340770	32340770	G	C	1	0	0	0	0	1	0	0	0	1669	1291	45	4		4	BRCA2	13	32340770	Missense_Mutation	SNP	G	C3N-00294_TP	208993	32340770	82023558	885	14387											
AKAP11	0	.	GRCh38	chr13	42303298	42303298	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagccttcctcacaaaatCacaggttttaccacagcact	12	11	4	14	0	3	0	3	0	0	0	4	0	4	0	3	1	3	2	3	1	3	4	rs145560213		C3N-00294_TP	C3N-00294_NB	C	C																c.4552C>G	p.His1518Asp	p.H1518D	ENST00000025301	8/13	194	148	46	186	186	0	strelka-varscan-mutect	AKAP11,missense_variant,p.His1518Asp,ENST00000025301,NM_016248.3;	G	ENST00000025301	Transcript	missense_variant	4727/9920	4552/5706	1518/1901	H/D	Cac/Gac	rs145560213	1		1	AKAP11	HGNC	HGNC:369	protein_coding	YES	CCDS9383.1	ENSP00000025301	Q9UKA4		UPI0000125747	NM_016248.3	tolerated(0.06)		8/13		hmmpanther:PTHR10226:SF3,hmmpanther:PTHR10226																	MODERATE	1	SNV	1			1										PASS		rs145560213	.												G	3	3	46	42303298	42303298	C	G	1	0	0	0	0	1	0	0	0	530	826	29	4		4	AKAP11	13	42303298	Missense_Mutation	SNP	C	C3N-00294_TP	9962528	42303298	72061030	886	14388											
ZC3H13	0	.	GRCh38	chr13	45969366	45969366	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcactgaatgctgtatcttCttttttctgggagtcctcta	6	18	8	9	0	5	1	1	1	4	0	6	2	6	2	1	1	1	2	1	1	3	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3178G>C	p.Glu1060Gln	p.E1060Q	ENST00000282007	14/17	126	107	19	164	164	0	strelka-varscan-mutect	ZC3H13,missense_variant,p.Glu1060Gln,ENST00000242848,;ZC3H13,missense_variant,p.Glu1060Gln,ENST00000282007,NM_015070.4;	G	ENST00000282007	Transcript	missense_variant	3249/6412	3178/4695	1060/1564	E/Q	Gaa/Caa		1		-1	ZC3H13	HGNC	HGNC:20368	protein_coding	YES	CCDS9400.1	ENSP00000282007	Q5T200		UPI0000366969	NM_015070.4	tolerated_low_confidence(0.05)		14/17		hmmpanther:PTHR13585,hmmpanther:PTHR13585:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	45969366	45969366	C	G	1	0	0	0	0	1	0	0	0	18140	922	32	4		4	ZC3H13	13	45969366	Missense_Mutation	SNP	C	C3N-00294_TP	3666068	45969366	68394962	887	14389											
LRCH1	0	.	GRCh38	chr13	46681779	46681779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcacagcgttgccccagcaGataggtcagttgaaatctct	11	10	9	11	1	3	2	2	1	1	1	4	2	3	2	2	1	3	3	2	1	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.618G>A	p.=	p.Q206Q	ENST00000389797	4/20	297	248	49	290	290	0	strelka-varscan-mutect	LRCH1,synonymous_variant,p.=,ENST00000311191,NM_001164213.1;LRCH1,synonymous_variant,p.=,ENST00000389798,NM_015116.2;LRCH1,synonymous_variant,p.=,ENST00000389797,NM_001164211.1;LRCH1,5_prime_UTR_variant,,ENST00000463929,;LRCH1,5_prime_UTR_variant,,ENST00000478412,;LRCH1,non_coding_transcript_exon_variant,,ENST00000443945,;	A	ENST00000389797	Transcript	synonymous_variant	755/3314	618/2292	206/763	Q	caG/caA		1		1	LRCH1	HGNC	HGNC:20309	protein_coding	YES	CCDS53865.1	ENSP00000374447	Q9Y2L9		UPI00015DFE06	NM_001164211.1			4/20		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF434,SMART_domains:SM00364,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	46681779	46681779	G	A	1	0	0	0	0	0	0	0	1	8826	933	33	3		3	LRCH1	13	46681779	Silent	SNP	G	C3N-00294_TP	712413	46681779	67682549	888	14390											
RB1	0	.	GRCh38	chr13	48381256	48381256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatttttaggaagtacatCtcagaatcttgattctggaa	12	16	7	6	0	4	2	2	1	3	1	5	4	4	4	0	2	1	1	0	2	5	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1508C>T	p.Ser503Phe	p.S503F	ENST00000267163	17/27	87	70	17	118	118	0	strelka-mutect	RB1,missense_variant,p.Ser503Phe,ENST00000267163,NM_000321.2;	T	ENST00000267163	Transcript	missense_variant	1646/4840	1508/2787	503/928	S/F	tCt/tTt		1		1	RB1	HGNC	HGNC:9884	protein_coding	YES	CCDS31973.1	ENSP00000267163	P06400	A0A024RDV3	UPI0000001C79	NM_000321.2	tolerated(0.8)		17/27		Gene3D:1.10.472.10,Pfam_domain:PF01858,hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF21,SMART_domains:SM01368,Superfamily_domains:SSF47954																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	48381256	48381256	C	T	1	0	0	0	0	1	0	0	0	13259	913	32	3		3	RB1	13	48381256	Missense_Mutation	SNP	C	C3N-00294_TP	1699477	48381256	65983072	889	14391											
TRIM13	0	.	GRCh38	chr13	50012709	50012709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagatgcaggagtttagaGagaaaatcaaagtaatcaag	20	7	10	4	0	2	3	2	0	0	3	2	5	2	4	0	1	2	3	0	1	7	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.778G>A	p.Glu260Lys	p.E260K	ENST00000356017	4/4	158	134	24	166	166	0	strelka-varscan-mutect	TRIM13,missense_variant,p.Glu257Lys,ENST00000378182,NM_213590.2,NM_052811.3;TRIM13,missense_variant,p.Glu257Lys,ENST00000420995,NM_005798.4;TRIM13,missense_variant,p.Glu260Lys,ENST00000356017,NM_001007278.2;TRIM13,missense_variant,p.Glu257Lys,ENST00000457662,;TRIM13,missense_variant,p.Glu257Lys,ENST00000378183,;KCNRG,upstream_gene_variant,,ENST00000360473,NM_199464.2;KCNRG,upstream_gene_variant,,ENST00000312942,NM_173605.1;TRIM13,downstream_gene_variant,,ENST00000442421,;DLEU2,intron_variant,,ENST00000621282,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;	A	ENST00000356017	Transcript	missense_variant	1166/1637	778/1233	260/410	E/K	Gag/Aag		1		1	TRIM13	HGNC	HGNC:9976	protein_coding	YES	CCDS41888.1	ENSP00000348299	O60858		UPI00001FCDDE	NM_001007278.2	deleterious(0.01)		4/4		hmmpanther:PTHR24103:SF252,hmmpanther:PTHR24103																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	50012709	50012709	G	A	1	0	0	0	0	1	0	0	0	16977	943	33	3		3	TRIM13	13	50012709	Missense_Mutation	SNP	G	C3N-00294_TP	1631453	50012709	64351619	890	14392											
UTP14C	0	.	GRCh38	chr13	52030239	52030239	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagcaaaaagcaagttcaGaggggactgttccccaggtc	13	6	13	9	0	1	1	1	0	0	1	3	3	2	3	2	4	2	4	2	4	4	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1435G>C	p.Glu479Gln	p.E479Q	ENST00000521776	2/2	339	268	71	356	356	0	strelka-varscan-mutect	UTP14C,missense_variant,p.Glu479Gln,ENST00000521776,NM_021645.5;ALG11,downstream_gene_variant,,ENST00000521508,NM_001004127.2;ALG11,downstream_gene_variant,,ENST00000523764,;ALG11,downstream_gene_variant,,ENST00000519151,;NEK5,downstream_gene_variant,,ENST00000529080,;	C	ENST00000521776	Transcript	missense_variant	2168/5529	1435/2301	479/766	E/Q	Gag/Cag		1		1	UTP14C	HGNC	HGNC:20321	protein_coding	YES	CCDS31978.1	ENSP00000428619	Q5TAP6	A0A024RDV0	UPI000006DB4B	NM_021645.5	tolerated(0.5)		2/2		hmmpanther:PTHR14150:SF16,hmmpanther:PTHR14150,Pfam_domain:PF04615																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	52030239	52030239	G	C	1	0	0	0	0	1	0	0	0	17639	943	33	4		4	UTP14C	13	52030239	Missense_Mutation	SNP	G	C3N-00294_TP	2017530	52030239	62334089	891	14393											
THSD1	0	.	GRCh38	chr13	52397560	52397560	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccaggtcaatgggtccTgtggaggtaatgactgagtc	8	10	16	7	0	1	2	1	2	0	0	3	3	2	3	2	5	0	1	2	5	2	1	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.693A>G	p.=	p.T231T	ENST00000258613	3/5	194	112	82	186	186	0	strelka-varscan-mutect	THSD1,synonymous_variant,p.=,ENST00000349258,NM_199263.2;THSD1,synonymous_variant,p.=,ENST00000258613,NM_018676.3;RNY4P24,upstream_gene_variant,,ENST00000362735,;	C	ENST00000258613	Transcript	synonymous_variant	872/2962	693/2559	231/852	T	acA/acG		1		-1	THSD1	HGNC	HGNC:17754	protein_coding	YES	CCDS9432.1	ENSP00000258613	Q9NS62	A0A024R064	UPI000007376D	NM_018676.3			3/5		hmmpanther:PTHR16311																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	46	52397560	52397560	T	C	1	0	0	0	0	0	0	0	1	16311	1567	55	5		5	THSD1	13	52397560	Silent	SNP	T	C3N-00294_TP	367321	52397560	61966768	892	14394											
DIS3	0	.	GRCh38	chr13	72775288	72775288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaaccacagaagatggtgCtacccactgactcttgggga	13	8	10	10	0	1	3	0	1	1	2	1	4	1	4	2	3	3	1	2	3	4	3	rs200924053		C3N-00294_TP	C3N-00294_NB	C	C																c.910G>T	p.Ala304Ser	p.A304S	ENST00000377767	6/21	141	106	35	172	172	0	strelka-varscan-mutect	DIS3,missense_variant,p.Ala304Ser,ENST00000377767,NM_014953.4;DIS3,missense_variant,p.Ala274Ser,ENST00000377780,NM_001128226.2;DIS3,missense_variant,p.Ala142Ser,ENST00000545453,;DIS3,missense_variant,p.Ala304Ser,ENST00000490646,;	A	ENST00000377767	Transcript	missense_variant	1011/10604	910/2877	304/958	A/S	Gca/Tca	rs200924053	1		-1	DIS3	HGNC	HGNC:20604	protein_coding	YES	CCDS9447.1	ENSP00000366997	Q9Y2L1		UPI0000141B79	NM_014953.4	tolerated(0.41)		6/21		hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF35,Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1										PASS		rs200924053	.												A	3	1	46	72775288	72775288	C	A	1	0	0	0	0	1	0	0	0	4341	797	28	2		2	DIS3	13	72775288	Missense_Mutation	SNP	C	C3N-00294_TP	20377728	72775288	41589040	893	14395											
KLF5	0	.	GRCh38	chr13	73063853	73063853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttataccaagtcttctCatttaaaagctcacctgagg	13	13	6	9	0	3	1	2	1	2	0	4	1	3	1	2	1	2	2	2	1	6	6			C3N-00294_TP	C3N-00294_NB	C	C																c.1165C>A	p.His389Asn	p.H389N	ENST00000377687	3/4	56	40	16	133	133	0	strelka-varscan-mutect	KLF5,missense_variant,p.His389Asn,ENST00000377687,NM_001730.4;KLF5,missense_variant,p.His298Asn,ENST00000539231,NM_001286818.1;KLF5,downstream_gene_variant,,ENST00000477333,;KLF5,downstream_gene_variant,,ENST00000476859,;	A	ENST00000377687	Transcript	missense_variant	1701/3566	1165/1374	389/457	H/N	Cat/Aat	COSM84227	1		1	KLF5	HGNC	HGNC:6349	protein_coding	YES	CCDS9448.1	ENSP00000366915	Q13887	Q5T6X2	UPI0000000C89	NM_001730.4	deleterious(0)		3/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF60,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	46	73063853	73063853	C	A	1	0	0	0	0	1	0	0	0	8214	826	29	2		2	KLF5	13	73063853	Missense_Mutation	SNP	C	C3N-00294_TP	288565	73063853	41300475	894	14396											
MYCBP2	0	.	GRCh38	chr13	77081910	77081910	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcgccatcatctgactttGacaaaatattgttaatgtga	13	15	6	7	1	2	3	1	3	1	0	3	3	2	3	1	0	0	1	1	0	5	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.11006C>A	p.Ser3669Ter	p.S3669*	ENST00000544440	64/83	127	108	19	142	142	0	strelka-varscan-mutect	MYCBP2,stop_gained,p.Ser3669Ter,ENST00000357337,NM_015057.4;MYCBP2,stop_gained,p.Ser3669Ter,ENST00000544440,;MYCBP2,stop_gained,p.Ser93Ter,ENST00000429715,;RP11-226E21.4,intron_variant,,ENST00000638101,;RP11-226E21.4,downstream_gene_variant,,ENST00000638147,;MYCBP2-AS1,non_coding_transcript_exon_variant,,ENST00000631152,;MYCBP2-AS1,intron_variant,,ENST00000593933,;MYCBP2-AS1,intron_variant,,ENST00000629771,;MYCBP2-AS1,intron_variant,,ENST00000627409,;MYCBP2-AS1,intron_variant,,ENST00000630676,;MYCBP2-AS1,intron_variant,,ENST00000422231,;MYCBP2-AS1,intron_variant,,ENST00000450627,;MYCBP2-AS1,intron_variant,,ENST00000448470,;MYCBP2-AS1,downstream_gene_variant,,ENST00000596342,;MYCBP2-AS2,upstream_gene_variant,,ENST00000428716,;MYCBP2-AS1,downstream_gene_variant,,ENST00000636737,;RP11-226E21.4,intron_variant,,ENST00000637192,;RP11-226E21.4,downstream_gene_variant,,ENST00000461131,;	T	ENST00000544440	Transcript	stop_gained	11024/14664	11006/13923	3669/4640	S/*	tCa/tAa		1		-1	MYCBP2	HGNC	HGNC:23386	protein_coding	YES		ENSP00000444596	O75592		UPI0000212757				64/83		Superfamily_domains:SSF49785																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	46	77081910	77081910	G	T	1	0	0	0	0	0	1	0	0	10018	1294	45	2		2	MYCBP2	13	77081910	Nonsense_Mutation	SNP	G	C3N-00294_TP	4018057	77081910	37282418	895	14397											
SLC10A2	0	.	GRCh38	chr13	103065886	103065886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcttacctcaggtccatgtCgccatcgacccaataggcca	10	9	7	15	2	2	0	1	0	1	0	5	1	3	0	5	2	1	0	5	2	3	2	rs200038147		C3N-00294_TP	C3N-00294_NB	C	C																c.364G>A	p.Asp122Asn	p.D122N	ENST00000245312	1/6	197	169	28	208	207	1	strelka-varscan-mutect	SLC10A2,missense_variant,p.Asp122Asn,ENST00000245312,NM_000452.2;	T	ENST00000245312	Transcript	missense_variant	961/3779	364/1047	122/348	D/N	Gac/Aac	rs200038147,COSM5634136	1		-1	SLC10A2	HGNC	HGNC:10906	protein_coding	YES	CCDS9506.1	ENSP00000245312	Q12908		UPI000013CB9B	NM_000452.2	deleterious(0)		1/6		hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF19,TIGRFAM_domain:TIGR00841,Pfam_domain:PF01758											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs200038147	.												T	3	4	46	103065886	103065886	C	T	1	0	0	0	0	1	0	0	0	14639	884	31	1		1	SLC10A2	13	103065886	Missense_Mutation	SNP	C	C3N-00294_TP	25983976	103065886	11298442	896	14398											
COL4A2	0	.	GRCh38	chr13	110357506	110357506	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgtgccgtgtggaggaaGagattgcagtgggggctgcc	7	9	19	6	1	0	2	0	1	0	1	0	5	0	4	2	4	3	2	2	4	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.134G>C	p.Arg45Thr	p.R45T	ENST00000360467	4/48	236	188	48	231	231	0	strelka-varscan-mutect	COL4A2,missense_variant,p.Arg45Thr,ENST00000360467,NM_001846.2;COL4A2,missense_variant,p.Arg45Thr,ENST00000400163,;	C	ENST00000360467	Transcript	missense_variant	440/6281	134/5139	45/1712	R/T	aGa/aCa		1		1	COL4A2	HGNC	HGNC:2203	protein_coding	YES	CCDS41907.1	ENSP00000353654	P08572	A0A024RDW8	UPI000041C713	NM_001846.2	deleterious(0)		4/48																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	46	110357506	110357506	G	C	1	0	0	0	0	1	0	0	0	3479	942	33	4		4	COL4A2	13	110357506	Missense_Mutation	SNP	G	C3N-00294_TP	7291620	110357506	4006822	897	14399											
TUBGCP3	0	.	GRCh38	chr13	112527447	112527447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacttgtcgtgccacagtCgatctgttttaactgttgga	8	16	9	8	2	1	0	0	0	1	0	3	2	1	1	1	1	3	2	1	1	3	6	rs770762441		C3N-00294_TP	C3N-00294_NB	C	C																c.1373G>T	p.Arg458Leu	p.R458L	ENST00000261965	12/22	101	48	53	117	117	0	strelka-varscan-mutect	TUBGCP3,missense_variant,p.Arg458Leu,ENST00000261965,NM_006322.5,NM_001286277.1;TUBGCP3,missense_variant,p.Arg458Leu,ENST00000375669,NM_001286278.1;TUBGCP3,non_coding_transcript_exon_variant,,ENST00000462580,;	A	ENST00000261965	Transcript	missense_variant	1560/3899	1373/2724	458/907	R/L	cGa/cTa	rs770762441	1		-1	TUBGCP3	HGNC	HGNC:18598	protein_coding	YES	CCDS9525.1	ENSP00000261965	Q96CW5		UPI000000DB88	NM_006322.5,NM_001286277.1	tolerated(0.06)		12/22		Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF14																	MODERATE	1	SNV	1			1										PASS		rs770762441	.												A	3	1	46	112527447	112527447	C	A	1	0	0	0	0	1	0	0	0	17277	884	31	1		1	TUBGCP3	13	112527447	Missense_Mutation	SNP	C	C3N-00294_TP	2169941	112527447	1836881	898	14400											
PROZ	0	.	GRCh38	chr13	113160112	113160112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgagggaaacttggaaaaaGaatgttatgaagaaatctgt	17	10	11	3	1	1	3	0	1	1	2	2	6	1	5	0	2	1	1	0	2	7	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.235G>C	p.Glu79Gln	p.E79Q	ENST00000342783	3/9	286	244	42	319	319	0	strelka-varscan-mutect	PROZ,missense_variant,p.Glu79Gln,ENST00000342783,NM_001256134.1;PROZ,missense_variant,p.Glu57Gln,ENST00000375547,NM_003891.2;RP11-98F14.11,downstream_gene_variant,,ENST00000600642,;PROZ,upstream_gene_variant,,ENST00000493630,;	C	ENST00000342783	Transcript	missense_variant	242/1551	235/1269	79/422	E/Q	Gaa/Caa		1		1	PROZ	HGNC	HGNC:9460	protein_coding	YES	CCDS58300.1	ENSP00000344458	P22891		UPI000002B1A6	NM_001256134.1	deleterious(0)		3/9		PROSITE_profiles:PS50998,hmmpanther:PTHR24278:SF20,hmmpanther:PTHR24278,PROSITE_patterns:PS00011,Pfam_domain:PF00594,PIRSF_domain:PIRSF001143,Gene3D:4.10.740.10,SMART_domains:SM00069,Superfamily_domains:SSF57630,Prints_domain:PR00001																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	113160112	113160112	G	C	1	0	0	0	0	1	0	0	0	12698	943	33	4		4	PROZ	13	113160112	Missense_Mutation	SNP	G	C3N-00294_TP	632665	113160112	1204216	899	14401											
PROZ	0	.	GRCh38	chr13	113160142	113160142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaatctgtgtctatgaaGaagcaagagaagtgtttgaa	17	10	11	3	0	2	5	0	2	2	3	2	6	2	5	0	0	1	2	0	0	8	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.265G>A	p.Glu89Lys	p.E89K	ENST00000342783	3/9	297	243	54	318	318	0	strelka-varscan-mutect	PROZ,missense_variant,p.Glu89Lys,ENST00000342783,NM_001256134.1;PROZ,missense_variant,p.Glu67Lys,ENST00000375547,NM_003891.2;RP11-98F14.11,downstream_gene_variant,,ENST00000600642,;PROZ,upstream_gene_variant,,ENST00000493630,;	A	ENST00000342783	Transcript	missense_variant	272/1551	265/1269	89/422	E/K	Gaa/Aaa		1		1	PROZ	HGNC	HGNC:9460	protein_coding	YES	CCDS58300.1	ENSP00000344458	P22891		UPI000002B1A6	NM_001256134.1	deleterious(0)		3/9		PROSITE_profiles:PS50998,hmmpanther:PTHR24278:SF20,hmmpanther:PTHR24278,PROSITE_patterns:PS00011,Pfam_domain:PF00594,PIRSF_domain:PIRSF001143,Gene3D:4.10.740.10,SMART_domains:SM00069,Superfamily_domains:SSF57630,Prints_domain:PR00001																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	113160142	113160142	G	A	1	0	0	0	0	1	0	0	0	12698	943	33	3		3	PROZ	13	113160142	Missense_Mutation	SNP	G	C3N-00294_TP	30	113160142	1204186	900	14402											
TMEM255B	0	.	GRCh38	chr13	113811868	113811868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctacgcacccacctactttCccccgggggagaagccaccc	8	5	9	19	2	0	1	0	0	0	1	1	2	1	1	6	2	3	2	6	2	3	3	rs752630188		C3N-00294_TP	C3N-00294_NB	C	C																c.946C>A	p.Pro316Thr	p.P316T	ENST00000375353	9/9	242	196	46	257	257	0	strelka-varscan-mutect	TMEM255B,missense_variant,p.Pro316Thr,ENST00000375353,NM_182614.2;GAS6-AS1,upstream_gene_variant,,ENST00000458001,;TMEM255B,non_coding_transcript_exon_variant,,ENST00000467169,;	A	ENST00000375353	Transcript	missense_variant	973/6100	946/981	316/326	P/T	Ccc/Acc	rs752630188,COSM4046230	1		1	TMEM255B	HGNC	HGNC:28297	protein_coding	YES	CCDS45071.1	ENSP00000364502	Q8WV15		UPI0000071C2C	NM_182614.2	tolerated(0.59)		9/9		hmmpanther:PTHR33721:SF3,hmmpanther:PTHR33721,Pfam_domain:PF14967											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs752630188	.												A	3	1	46	113811868	113811868	C	A	1	0	0	0	0	1	0	0	0	16615	855	30	2		2	TMEM255B	13	113811868	Missense_Mutation	SNP	C	C3N-00294_TP	651726	113811868	552460	901	14403											
OR4K1	0	.	GRCh38	chr14	19936183	19936183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccattctgtggtcccaatGaggtggatagcttcttttgt	6	16	11	8	0	2	1	0	1	2	0	3	2	3	2	2	3	2	1	2	3	2	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.517G>A	p.Glu173Lys	p.E173K	ENST00000285600	1/1	409	369	40	346	346	0	strelka-varscan-mutect	OR4K1,missense_variant,p.Glu173Lys,ENST00000285600,NM_001004063.2;	A	ENST00000285600	Transcript	missense_variant	576/1076	517/936	173/311	E/K	Gag/Aag		1		1	OR4K1	HGNC	HGNC:14726	protein_coding	YES	CCDS32025.1	ENSP00000285600	Q8NGD4		UPI0000041B4A	NM_001004063.2	tolerated(1)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF182,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	46	19936183	19936183	G	A	1	0	0	0	0	1	0	0	0	11144	1291	45	3		3	OR4K1	14	19936183	Missense_Mutation	SNP	G	C3N-00294_TP		19936183	87107535	902	14404											
APEX1	0	.	GRCh38	chr14	20457139	20457139	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagcctttcgcaagttcctGaagggcctggcttcccgaaa	9	9	11	12	2	0	1	0	1	0	0	3	3	2	1	4	2	1	3	4	2	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.588G>C	p.=	p.L196L	ENST00000216714	5/5	331	279	52	377	377	0	strelka-varscan-mutect	APEX1,stop_lost,p.Ter15SerextTer74,ENST00000557054,;APEX1,synonymous_variant,p.=,ENST00000216714,NM_001244249.1,NM_001641.3;APEX1,synonymous_variant,p.=,ENST00000555414,NM_080649.2,NM_080648.2;APEX1,synonymous_variant,p.=,ENST00000398030,;APEX1,synonymous_variant,p.=,ENST00000555839,;APEX1,synonymous_variant,p.=,ENST00000553681,;APEX1,synonymous_variant,p.=,ENST00000438886,;OSGEP,upstream_gene_variant,,ENST00000206542,NM_017807.3;TMEM55B,downstream_gene_variant,,ENST00000250489,NM_144568.3;TMEM55B,downstream_gene_variant,,ENST00000398020,NM_001100814.2;TMEM55B,downstream_gene_variant,,ENST00000553460,;APEX1,downstream_gene_variant,,ENST00000556054,;APEX1,downstream_gene_variant,,ENST00000557150,;APEX1,downstream_gene_variant,,ENST00000557344,;APEX1,downstream_gene_variant,,ENST00000557592,;OSGEP,upstream_gene_variant,,ENST00000553640,;APEX1,downstream_gene_variant,,ENST00000557181,;APEX1,downstream_gene_variant,,ENST00000553368,;TMEM55B,downstream_gene_variant,,ENST00000556093,;APEX1,non_coding_transcript_exon_variant,,ENST00000557365,;APEX1,non_coding_transcript_exon_variant,,ENST00000554813,;OSGEP,upstream_gene_variant,,ENST00000556252,;OSGEP,upstream_gene_variant,,ENST00000554699,;APEX1,downstream_gene_variant,,ENST00000556296,;APEX1,non_coding_transcript_exon_variant,,ENST00000557159,;APEX1,non_coding_transcript_exon_variant,,ENST00000553555,;TMEM55B,downstream_gene_variant,,ENST00000557041,;TMEM55B,downstream_gene_variant,,ENST00000554028,;OSGEP,upstream_gene_variant,,ENST00000556439,;APEX1,downstream_gene_variant,,ENST00000555306,;OSGEP,upstream_gene_variant,,ENST00000555223,;APEX1,downstream_gene_variant,,ENST00000554325,;TMEM55B,downstream_gene_variant,,ENST00000553602,;	C	ENST00000216714	Transcript	synonymous_variant	856/1484	588/957	196/318	L	ctG/ctC		1		1	APEX1	HGNC	HGNC:587	protein_coding	YES	CCDS9550.1	ENSP00000216714	P27695	Q5TZP7	UPI000000CBFE	NM_001244249.1,NM_001641.3			5/5		PROSITE_profiles:PS51435,hmmpanther:PTHR22748,TIGRFAM_domain:TIGR00195,Gene3D:3.60.10.10,TIGRFAM_domain:TIGR00633,Pfam_domain:PF03372,Superfamily_domains:SSF56219																	LOW	1	SNV	1			1										PASS		rs1183830234	.												C	2	2	46	20457139	20457139	G	C	1	0	0	0	0	0	0	0	1	890	1285	45	4		4	APEX1	14	20457139	Silent	SNP	G	C3N-00294_TP	520956	20457139	86586579	903	14405											
CHD8	0	.	GRCh38	chr14	21427937	21427937	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctttggcttctcctctttCagcctctccccagcactctt	3	17	4	17	0	6	0	1	0	5	0	8	0	6	0	4	1	2	2	4	1	0	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1533G>A	p.=	p.L511L	ENST00000399982	3/37	193	151	42	248	248	0	strelka-varscan-mutect	CHD8,synonymous_variant,p.=,ENST00000399982,NM_001170629.1;CHD8,synonymous_variant,p.=,ENST00000557364,;CHD8,synonymous_variant,p.=,ENST00000430710,NM_020920.3;CHD8,downstream_gene_variant,,ENST00000553622,;CHD8,downstream_gene_variant,,ENST00000553283,;RN7SL650P,downstream_gene_variant,,ENST00000619902,;CHD8,intron_variant,,ENST00000555962,;CHD8,downstream_gene_variant,,ENST00000556833,;CHD8,downstream_gene_variant,,ENST00000553651,;	T	ENST00000399982	Transcript	synonymous_variant	1598/8229	1533/7746	511/2581	L	ctG/ctA		1		-1	CHD8	HGNC	HGNC:20153	protein_coding	YES	CCDS53885.1	ENSP00000382863	Q9HCK8		UPI00002375B9	NM_001170629.1			3/37		hmmpanther:PTHR10799:SF551,hmmpanther:PTHR10799																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	21427937	21427937	C	T	1	0	0	0	0	0	0	0	1	3090	813	29	3		3	CHD8	14	21427937	Silent	SNP	C	C3N-00294_TP	970798	21427937	85615781	904	14406											
SALL2	0	.	GRCh38	chr14	21523893	21523893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaggtggtgggggctcctGaggcagctgaggtcaccgcc	6	6	18	11	1	1	3	1	2	0	1	2	3	2	3	3	6	1	3	3	6	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1835C>T	p.Ser612Leu	p.S612L	ENST00000614342	2/2	227	170	57	287	287	0	strelka-varscan-mutect	SALL2,missense_variant,p.Ser612Leu,ENST00000614342,NM_005407.2;SALL2,missense_variant,p.Ser475Leu,ENST00000450879,NM_001291447.1;SALL2,missense_variant,p.Ser471Leu,ENST00000546363,NM_001291446.1;SALL2,intron_variant,,ENST00000613414,;SALL2,intron_variant,,ENST00000611430,;SALL2,downstream_gene_variant,,ENST00000537235,;SALL2,downstream_gene_variant,,ENST00000541965,;AE000658.22,downstream_gene_variant,,ENST00000535893,;	A	ENST00000614342	Transcript	missense_variant	2130/4942	1835/3024	612/1007	S/L	tCa/tTa		1		-1	SALL2	HGNC	HGNC:10526	protein_coding	YES	CCDS32045.1	ENSP00000483562	Q9Y467		UPI0000135524	NM_005407.2	deleterious_low_confidence(0.01)		2/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	21523893	21523893	G	A	1	0	0	0	0	1	0	0	0	14070	1294	45	3		3	SALL2	14	21523893	Missense_Mutation	SNP	G	C3N-00294_TP	95956	21523893	85519825	905	14407											
CARMIL3	0	.	GRCh38	chr14	24058945	24058945	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggcaagaacaagtccctCaagcacctgtttttgggcaa	11	10	9	11	0	1	1	1	0	0	1	2	1	2	1	2	2	2	4	2	2	5	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1530C>G	p.=	p.L510L	ENST00000342740	19/40	305	262	43	289	289	0	strelka-varscan-mutect	CARMIL3,synonymous_variant,p.=,ENST00000342740,NM_138360.3;CARMIL3,non_coding_transcript_exon_variant,,ENST00000559694,;CARMIL3,upstream_gene_variant,,ENST00000560349,;CARMIL3,upstream_gene_variant,,ENST00000561354,;	G	ENST00000342740	Transcript	synonymous_variant	1684/4597	1530/4119	510/1372	L	ctC/ctG		1		1	CARMIL3	HGNC	HGNC:20272	protein_coding	YES	CCDS32054.1	ENSP00000340467	Q8ND23		UPI0000DBEF11	NM_138360.3			19/40		hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF43,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	46	24058945	24058945	C	G	1	0	0	0	0	0	0	0	1	2353	813	29	4		4	CARMIL3	14	24058945	Silent	SNP	C	C3N-00294_TP	2535052	24058945	82984773	906	14408											
DCAF11	0	.	GRCh38	chr14	24118125	24118125	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtggcatctacagcaaaGatggtcaaatattcatgtct	12	13	8	8	0	5	1	2	0	3	1	5	1	5	1	0	2	2	2	0	2	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.547G>C	p.Asp183His	p.D183H	ENST00000446197	6/15	174	134	40	177	177	0	strelka-varscan-mutect	DCAF11,missense_variant,p.Asp183His,ENST00000446197,NM_025230.4;DCAF11,missense_variant,p.Asp183His,ENST00000559115,NM_001163484.1;DCAF11,missense_variant,p.Asp83His,ENST00000396936,;DCAF11,missense_variant,p.Asp157His,ENST00000396941,NM_181357.2;DCAF11,missense_variant,p.Asp157His,ENST00000561375,;DCAF11,missense_variant,p.Asp143His,ENST00000560901,;NRL,upstream_gene_variant,,ENST00000561028,;DCAF11,upstream_gene_variant,,ENST00000559144,;DCAF11,downstream_gene_variant,,ENST00000557810,;RP11-468E2.6,upstream_gene_variant,,ENST00000558325,;DCAF11,downstream_gene_variant,,ENST00000559017,;NRL,upstream_gene_variant,,ENST00000558280,;DCAF11,downstream_gene_variant,,ENST00000558408,;DCAF11,downstream_gene_variant,,ENST00000560459,;DCAF11,downstream_gene_variant,,ENST00000558215,;DCAF11,downstream_gene_variant,,ENST00000558638,;DCAF11,downstream_gene_variant,,ENST00000559288,;DCAF11,downstream_gene_variant,,ENST00000559593,;DCAF11,downstream_gene_variant,,ENST00000561041,;DCAF11,downstream_gene_variant,,ENST00000559382,;DCAF11,downstream_gene_variant,,ENST00000559354,;DCAF11,downstream_gene_variant,,ENST00000561001,;DCAF11,downstream_gene_variant,,ENST00000560713,;DCAF11,downstream_gene_variant,,ENST00000559796,;DCAF11,downstream_gene_variant,,ENST00000559396,;DCAF11,intron_variant,,ENST00000560171,;DCAF11,downstream_gene_variant,,ENST00000561056,;DCAF11,downstream_gene_variant,,ENST00000557809,;DCAF11,downstream_gene_variant,,ENST00000561016,;DCAF11,downstream_gene_variant,,ENST00000557952,;DCAF11,3_prime_UTR_variant,,ENST00000557802,;DCAF11,3_prime_UTR_variant,,ENST00000326009,;DCAF11,3_prime_UTR_variant,,ENST00000558914,;DCAF11,non_coding_transcript_exon_variant,,ENST00000560046,;DCAF11,upstream_gene_variant,,ENST00000558624,;DCAF11,upstream_gene_variant,,ENST00000559472,;DCAF11,downstream_gene_variant,,ENST00000559451,;DCAF11,downstream_gene_variant,,ENST00000558706,;DCAF11,downstream_gene_variant,,ENST00000560457,;DCAF11,downstream_gene_variant,,ENST00000557888,;DCAF11,downstream_gene_variant,,ENST00000560614,;	C	ENST00000446197	Transcript	missense_variant	1274/4299	547/1641	183/546	D/H	Gat/Cat		1		1	DCAF11	HGNC	HGNC:20258	protein_coding	YES	CCDS9610.1	ENSP00000415556	Q8TEB1		UPI0000073AB2	NM_025230.4	deleterious(0)		6/15		PROSITE_profiles:PS50294,hmmpanther:PTHR19847,Gene3D:2.130.10.10,PIRSF_domain:PIRSF038135,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	24118125	24118125	G	C	1	0	0	0	0	1	0	0	0	4063	942	33	4		4	DCAF11	14	24118125	Missense_Mutation	SNP	G	C3N-00294_TP	59180	24118125	82925593	907	14409											
AKAP6	0	.	GRCh38	chr14	32545801	32545801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttaattataacgaggactCtcccacgcagcctacattgc	11	11	6	13	2	1	0	0	0	1	0	2	2	1	1	2	1	4	1	2	1	4	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1148C>G	p.Ser383Cys	p.S383C	ENST00000280979	4/14	142	107	35	177	177	0	strelka-varscan-mutect	AKAP6,missense_variant,p.Ser383Cys,ENST00000280979,NM_004274.4;AKAP6,missense_variant,p.Ser383Cys,ENST00000557354,;AKAP6,missense_variant,p.Ser383Cys,ENST00000557272,;AKAP6,missense_variant,p.Ser141Cys,ENST00000553547,;AKAP6,downstream_gene_variant,,ENST00000556638,;AKAP6,downstream_gene_variant,,ENST00000554410,;	G	ENST00000280979	Transcript	missense_variant	1318/15006	1148/6960	383/2319	S/C	tCt/tGt		1		1	AKAP6	HGNC	HGNC:376	protein_coding	YES	CCDS9644.1	ENSP00000280979	Q13023		UPI000013DC48	NM_004274.4	deleterious(0)		4/14		hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	32545801	32545801	C	G	1	0	0	0	0	1	0	0	0	539	913	32	4		4	AKAP6	14	32545801	Missense_Mutation	SNP	C	C3N-00294_TP	8427676	32545801	74497917	908	14410											
EGLN3	0	.	GRCh38	chr14	33950430	33950430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgtagtatttgcccagcCggctcccgcagtagaggacc	8	8	12	13	3	0	2	0	1	0	1	1	3	1	3	4	2	2	5	4	2	3	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.323G>T	p.Arg108Leu	p.R108L	ENST00000250457	1/5	359	295	64	421	421	0	strelka-varscan-mutect	EGLN3,missense_variant,p.Arg108Leu,ENST00000547327,;EGLN3,missense_variant,p.Arg108Leu,ENST00000250457,NM_022073.3;EGLN3,intron_variant,,ENST00000553215,NM_001308103.1;EGLN3,intron_variant,,ENST00000487915,;	A	ENST00000250457	Transcript	missense_variant	652/2709	323/720	108/239	R/L	cGg/cTg		1		-1	EGLN3	HGNC	HGNC:14661	protein_coding	YES	CCDS9646.1	ENSP00000250457	Q9H6Z9		UPI000004F8A8	NM_022073.3	deleterious(0.02)		1/5		hmmpanther:PTHR12907,hmmpanther:PTHR12907:SF5,SMART_domains:SM00702																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	33950430	33950430	C	A	1	0	0	0	0	1	0	0	0	4806	652	23	1		1	EGLN3	14	33950430	Missense_Mutation	SNP	C	C3N-00294_TP	1404629	33950430	73093288	909	14411											
BRMS1L	0	.	GRCh38	chr14	35831437	35831437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgaagactgtgaaagaaGaagaatggaatgtttggatg	16	10	14	1	0	0	7	0	3	0	4	0	9	0	9	0	2	0	1	0	2	6	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.170G>A	p.Arg57Lys	p.R57K	ENST00000216807	2/10	46	37	9	105	105	0	strelka-varscan-mutect	BRMS1L,missense_variant,p.Arg57Lys,ENST00000216807,NM_032352.3;BRMS1L,upstream_gene_variant,,ENST00000551774,;RP11-317N8.5,upstream_gene_variant,,ENST00000555918,;BRMS1L,3_prime_UTR_variant,,ENST00000552677,;BRMS1L,3_prime_UTR_variant,,ENST00000547420,;BRMS1L,non_coding_transcript_exon_variant,,ENST00000548758,;	A	ENST00000216807	Transcript	missense_variant	369/2657	170/972	57/323	R/K	aGa/aAa		1		1	BRMS1L	HGNC	HGNC:20512	protein_coding	YES	CCDS32066.1	ENSP00000216807	Q5PSV4		UPI00001BBFA5	NM_032352.3	deleterious(0.03)		2/10		hmmpanther:PTHR21964:SF16,hmmpanther:PTHR21964																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	35831437	35831437	G	A	1	0	0	0	0	1	0	0	0	1692	942	33	3		3	BRMS1L	14	35831437	Missense_Mutation	SNP	G	C3N-00294_TP	1881007	35831437	71212281	910	14412											
CLEC14A	0	.	GRCh38	chr14	38255453	38255453	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagggcgcgcgatagctCaagttagaggcggccccggg	8	5	18	10	5	1	1	1	0	0	1	1	3	1	2	2	5	1	2	2	5	4	2			C3N-00294_TP	C3N-00294_NB	C	C																c.570G>A	p.=	p.L190L	ENST00000342213	1/1	199	155	44	193	193	0	strelka-varscan-mutect	CLEC14A,synonymous_variant,p.=,ENST00000342213,NM_175060.2;	T	ENST00000342213	Transcript	synonymous_variant	917/2267	570/1473	190/490	L	ttG/ttA	COSM5292824	1		-1	CLEC14A	HGNC	HGNC:19832	protein_coding	YES	CCDS9667.1	ENSP00000353013	Q86T13		UPI000000CBD4	NM_175060.2			1/1		hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF285											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	46	38255453	38255453	C	T	1	0	0	0	0	0	0	0	1	3265	825	29	3		3	CLEC14A	14	38255453	Silent	SNP	C	C3N-00294_TP	2424016	38255453	68788265	911	14413											
SEC23A	0	.	GRCh38	chr14	39033242	39033242	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaacattattagcacttcaAgcagcactggacacagcaag	15	9	7	10	0	1	0	1	0	0	0	1	1	1	1	0	1	5	4	0	1	5	4	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.2295T>C	p.=	p.A765A	ENST00000307712	20/20	150	79	71	257	257	0	strelka-varscan-mutect	SEC23A,synonymous_variant,p.=,ENST00000537403,;SEC23A,synonymous_variant,p.=,ENST00000307712,NM_006364.2;SEC23A,synonymous_variant,p.=,ENST00000545328,;SEC23A,non_coding_transcript_exon_variant,,ENST00000554615,;SEC23A,non_coding_transcript_exon_variant,,ENST00000555363,;	G	ENST00000307712	Transcript	synonymous_variant	2813/4135	2295/2298	765/765	A	gcT/gcC		1		-1	SEC23A	HGNC	HGNC:10701	protein_coding	YES	CCDS9668.1	ENSP00000306881	Q15436		UPI000013EC46	NM_006364.2			20/20		hmmpanther:PTHR11141,hmmpanther:PTHR11141:SF7																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	46	39033242	39033242	A	G	1	0	0	0	0	0	0	0	1	14268	59	3	5		5	SEC23A	14	39033242	Silent	SNP	A	C3N-00294_TP	777789	39033242	68010476	912	14414											
NEMF	0	.	GRCh38	chr14	49814024	49814024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacacagctagtagctccatGaagatcagcatgtacataaa	16	9	7	9	0	1	2	1	1	0	1	2	2	2	2	1	0	5	5	1	0	7	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1708C>G	p.His570Asp	p.H570D	ENST00000298310	18/33	98	76	22	147	147	0	strelka-varscan-mutect	NEMF,missense_variant,p.His570Asp,ENST00000298310,NM_001301732.1,NM_004713.4;NEMF,missense_variant,p.His528Asp,ENST00000555970,;NEMF,non_coding_transcript_exon_variant,,ENST00000556925,;NEMF,intron_variant,,ENST00000555411,;	C	ENST00000298310	Transcript	missense_variant	2158/6234	1708/3231	570/1076	H/D	Cat/Gat		1		-1	NEMF	HGNC	HGNC:10663	protein_coding	YES	CCDS9694.1	ENSP00000298310	O60524		UPI0000246D16	NM_001301732.1,NM_004713.4	deleterious(0.02)		18/33		Pfam_domain:PF05670,hmmpanther:PTHR15239,hmmpanther:PTHR15239:SF6																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	46	49814024	49814024	G	C	1	0	0	0	0	1	0	0	0	10366	1290	45	4		4	NEMF	14	49814024	Missense_Mutation	SNP	G	C3N-00294_TP	10780782	49814024	57229694	913	14415											
L2HGDH	0	.	GRCh38	chr14	50265465	50265465	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaactccataggaaaaattCtgggatgccagtttaatcaa	15	11	8	7	0	2	0	1	0	1	0	3	2	3	2	2	2	2	2	2	2	6	5	rs139749452		C3N-00294_TP	C3N-00294_NB	C	C																c.1089G>A	p.=	p.Q363Q	ENST00000267436	9/10	154	128	26	231	231	0	strelka-varscan-mutect	L2HGDH,synonymous_variant,p.=,ENST00000267436,NM_024884.2;L2HGDH,synonymous_variant,p.=,ENST00000421284,;L2HGDH,synonymous_variant,p.=,ENST00000261699,;	T	ENST00000267436	Transcript	synonymous_variant	1487/6414	1089/1392	363/463	Q	caG/caA	rs139749452	1		-1	L2HGDH	HGNC	HGNC:20499	protein_coding	YES	CCDS9698.1	ENSP00000267436	Q9H9P8		UPI0000048F63	NM_024884.2			9/10		Pfam_domain:PF01266,hmmpanther:PTHR13847,hmmpanther:PTHR13847:SF191																	LOW	1	SNV	1			1										PASS		rs139749452	.												T	2	4	46	50265465	50265465	C	T	1	0	0	0	0	0	0	0	1	8491	912	32	3		3	L2HGDH	14	50265465	Silent	SNP	C	C3N-00294_TP	451441	50265465	56778253	914	14416											
SAV1	0	.	GRCh38	chr14	50645005	50645005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaagatgtagcagcaactCtcccaatacctacggggaaa	15	7	8	11	1	1	1	0	0	1	1	2	2	1	2	2	2	5	3	2	2	8	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.545G>A	p.Arg182Lys	p.R182K	ENST00000324679	3/5	89	68	21	90	90	0	strelka-varscan-mutect	SAV1,missense_variant,p.Arg182Lys,ENST00000324679,NM_021818.3;SAV1,missense_variant,p.Arg114Lys,ENST00000555720,;SAV1,intron_variant,,ENST00000553731,;SAV1,upstream_gene_variant,,ENST00000557458,;	T	ENST00000324679	Transcript	missense_variant	909/3063	545/1152	182/383	R/K	aGa/aAa		1		-1	SAV1	HGNC	HGNC:17795	protein_coding	YES	CCDS9701.1	ENSP00000324729	Q9H4B6		UPI0000035DA2	NM_021818.3	tolerated(0.13)		3/5		hmmpanther:PTHR10316																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	50645005	50645005	C	T	1	0	0	0	0	1	0	0	0	14117	913	32	3		3	SAV1	14	50645005	Missense_Mutation	SNP	C	C3N-00294_TP	379540	50645005	56398713	915	14417											
SAMD4A	0	.	GRCh38	chr14	54737108	54737108	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtgccaaaccagcctctagGacatggatggatgtctcatg	10	10	11	10	0	2	0	1	0	2	0	3	3	2	3	3	3	3	0	3	3	2	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.800G>C	p.Gly267Ala	p.G267A	ENST00000392067	3/12	364	289	75	366	366	0	strelka-varscan-mutect	SAMD4A,missense_variant,p.Gly267Ala,ENST00000392067,NM_015589.5;SAMD4A,missense_variant,p.Gly267Ala,ENST00000554335,;SAMD4A,intron_variant,,ENST00000631086,;SAMD4A,intron_variant,,ENST00000251091,NM_001161576.2;SAMD4A,downstream_gene_variant,,ENST00000557013,;	C	ENST00000392067	Transcript	missense_variant	1105/6833	800/2157	267/718	G/A	gGa/gCa		1		1	SAMD4A	HGNC	HGNC:23023	protein_coding	YES	CCDS32084.2	ENSP00000375919	Q9UPU9		UPI0000229786	NM_015589.5	tolerated(0.19)		3/12		hmmpanther:PTHR12515,hmmpanther:PTHR12515:SF8																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	46	54737108	54737108	G	C	1	0	0	0	0	1	0	0	0	14081	1174	41	4		4	SAMD4A	14	54737108	Missense_Mutation	SNP	G	C3N-00294_TP	4092103	54737108	52306610	916	14418											
KTN1	0	.	GRCh38	chr14	55616581	55616581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggcaagaagcattgcccctCcaccaagagactaaacaaga	17	4	8	12	0	0	3	0	0	0	3	1	4	1	3	4	1	3	2	4	1	6	2	rs374315337		C3N-00294_TP	C3N-00294_NB	C	C																c.588C>T	p.=	p.L196L	ENST00000395314	3/44	104	92	12	148	148	0	strelka-varscan-mutect	KTN1,synonymous_variant,p.=,ENST00000395314,NM_001271014.1,NM_001079521.1;KTN1,synonymous_variant,p.=,ENST00000395311,NM_001079522.1;KTN1,synonymous_variant,p.=,ENST00000413890,;KTN1,synonymous_variant,p.=,ENST00000438792,NM_004986.3;KTN1,synonymous_variant,p.=,ENST00000395308,;KTN1,synonymous_variant,p.=,ENST00000395309,;KTN1,intron_variant,,ENST00000554567,;KTN1,downstream_gene_variant,,ENST00000555498,;KTN1,downstream_gene_variant,,ENST00000557267,;KTN1,synonymous_variant,p.=,ENST00000459737,;	T	ENST00000395314	Transcript	synonymous_variant	656/4618	588/4074	196/1357	L	ctC/ctT	rs374315337	1		1	KTN1	HGNC	HGNC:6467	protein_coding	YES	CCDS41957.1	ENSP00000378725	Q86UP2	A0A024R663	UPI0000190F88	NM_001271014.1,NM_001079521.1			3/44		hmmpanther:PTHR18864																	LOW	1	SNV	1			1										PASS		rs374315337	.												T	2	4	46	55616581	55616581	C	T	1	0	0	0	0	0	0	0	1	8483	842	30	3		3	KTN1	14	55616581	Silent	SNP	C	C3N-00294_TP	879473	55616581	51427137	917	14419											
PELI2	0	.	GRCh38	chr14	56296760	56296760	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccggcctcagtgtcctgTggggctcaacaccctggcct	4	8	12	17	2	2	0	2	0	0	0	3	0	3	0	5	4	1	1	5	4	1	0	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.857T>C	p.Val286Ala	p.V286A	ENST00000267460	6/6	155	95	60	193	193	0	strelka-varscan-mutect	PELI2,missense_variant,p.Val286Ala,ENST00000267460,NM_021255.2;	C	ENST00000267460	Transcript	missense_variant	1143/5909	857/1263	286/420	V/A	gTg/gCg		1		1	PELI2	HGNC	HGNC:8828	protein_coding	YES	CCDS9726.1	ENSP00000267460	Q9HAT8		UPI0000062262	NM_021255.2	deleterious(0.02)		6/6		hmmpanther:PTHR12098,Pfam_domain:PF04710,PIRSF_domain:PIRSF038886																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	56296760	56296760	T	C	1	0	0	0	0	1	0	0	0	11810	1696	59	5		5	PELI2	14	56296760	Missense_Mutation	SNP	T	C3N-00294_TP	680179	56296760	50746958	918	14420											
AP5M1	0	.	GRCh38	chr14	57274430	57274430	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatccatttatggactcctGataggaggtgaagaactctg	12	11	10	8	0	1	3	0	2	1	1	3	5	3	5	2	3	1	0	2	3	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.261G>A	p.=	p.L87L	ENST00000261558	2/8	163	130	33	182	182	0	strelka-varscan-mutect	AP5M1,synonymous_variant,p.=,ENST00000261558,NM_018229.3;AP5M1,synonymous_variant,p.=,ENST00000431972,;AP5M1,5_prime_UTR_variant,,ENST00000556995,;AP5M1,upstream_gene_variant,,ENST00000556723,;AP5M1,downstream_gene_variant,,ENST00000554213,;AP5M1,non_coding_transcript_exon_variant,,ENST00000554931,;AP5M1,intron_variant,,ENST00000555448,;	A	ENST00000261558	Transcript	synonymous_variant	667/11737	261/1473	87/490	L	ctG/ctA		1		1	AP5M1	HGNC	HGNC:20192	protein_coding	YES	CCDS9729.1	ENSP00000261558	Q9H0R1	A0A024R654	UPI00000719DE	NM_018229.3			2/8		hmmpanther:PTHR16082,hmmpanther:PTHR16082:SF2																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	57274430	57274430	G	A	1	0	0	0	0	0	0	0	1	872	1277	45	3		3	AP5M1	14	57274430	Silent	SNP	G	C3N-00294_TP	977670	57274430	49769288	919	14421											
NAA30	0	.	GRCh38	chr14	57391559	57391559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcagcttaagaagcccttCgggcagggaggttgagcctg	8	8	15	10	1	0	2	0	1	0	1	1	3	0	3	2	3	4	4	2	3	2	3			C3N-00294_TP	C3N-00294_NB	C	C																c.602C>T	p.Ser201Leu	p.S201L	ENST00000556492	2/5	165	124	41	171	171	0	strelka-varscan-mutect	NAA30,missense_variant,p.Ser201Leu,ENST00000556492,NM_001011713.2;NAA30,intron_variant,,ENST00000298406,;NAA30,intron_variant,,ENST00000555166,;NAA30,intron_variant,,ENST00000554703,;	T	ENST00000556492	Transcript	missense_variant	756/7644	602/1089	201/362	S/L	tCg/tTg	COSM3814972	1		1	NAA30	HGNC	HGNC:19844	protein_coding	YES	CCDS32088.1	ENSP00000452521	Q147X3		UPI0000161013	NM_001011713.2	tolerated(0.11)		2/5		hmmpanther:PTHR23091,hmmpanther:PTHR23091:SF227											1						MODERATE	1	SNV	1		1	1										PASS		rs1224102042	.												T	3	4	46	57391559	57391559	C	T	1	0	0	0	0	1	0	0	0	10125	893	31	1		1	NAA30	14	57391559	Missense_Mutation	SNP	C	C3N-00294_TP	117129	57391559	49652159	920	14422											
FAM71D	0	.	GRCh38	chr14	67204574	67204574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgactctttctgtgcatGatgcggagaacatgagcctg	8	13	12	8	1	2	4	0	3	2	1	2	5	2	4	1	1	4	1	1	1	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.397G>A	p.Asp133Asn	p.D133N	ENST00000612183	5/9	118	95	23	119	119	0	strelka-varscan-mutect	FAM71D,missense_variant,p.Asp133Asn,ENST00000612183,NM_173526.3;FAM71D,downstream_gene_variant,,ENST00000530728,;FAM71D,downstream_gene_variant,,ENST00000524532,;FAM71D,upstream_gene_variant,,ENST00000556117,;FAM71D,upstream_gene_variant,,ENST00000557671,;FAM71D,downstream_gene_variant,,ENST00000531566,;FAM71D,missense_variant,p.Asp133Asn,ENST00000311864,;FAM71D,missense_variant,p.Asp133Asn,ENST00000534174,;FAM71D,3_prime_UTR_variant,,ENST00000556046,;FAM71D,downstream_gene_variant,,ENST00000524914,;RP11-125H8.1,downstream_gene_variant,,ENST00000553618,;	A	ENST00000612183	Transcript	missense_variant	687/1790	397/1269	133/422	D/N	Gat/Aat		1		1	FAM71D	HGNC	HGNC:20101	protein_coding	YES	CCDS9778.1	ENSP00000483154	Q8N9W8		UPI000013F210	NM_173526.3	tolerated(0.24)		5/9		hmmpanther:PTHR22574:SF6,hmmpanther:PTHR22574,Pfam_domain:PF12480																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	46	67204574	67204574	G	A	1	0	0	0	0	1	0	0	0	5474	1290	45	3		3	FAM71D	14	67204574	Missense_Mutation	SNP	G	C3N-00294_TP	9813015	67204574	39839144	921	14423											
PLEKHH1	0	.	GRCh38	chr14	67557386	67557386	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagggcaaagatgagctcAtcagccagctagaggctcag	14	6	12	9	0	3	3	3	1	0	2	3	3	3	3	1	2	3	4	1	2	4	2	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.307A>T	p.Ile103Phe	p.I103F	ENST00000329153	4/29	84	53	31	85	85	0	strelka-varscan-mutect	PLEKHH1,missense_variant,p.Ile103Phe,ENST00000329153,NM_020715.2;	T	ENST00000329153	Transcript	missense_variant	439/6604	307/4095	103/1364	I/F	Atc/Ttc		1		1	PLEKHH1	HGNC	HGNC:17733	protein_coding	YES	CCDS45128.1	ENSP00000330278	Q9ULM0		UPI00001C1F64	NM_020715.2	deleterious(0)		4/29		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22903:SF4,hmmpanther:PTHR22903																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	67557386	67557386	A	T	1	0	0	0	0	1	0	0	0	12169	217	8	4		4	PLEKHH1	14	67557386	Missense_Mutation	SNP	A	C3N-00294_TP	352812	67557386	39486332	922	14424											
EXD2	0	.	GRCh38	chr14	69235025	69235025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctctgggggtgggctattCtgccaggtaactgaatcact	7	11	13	10	0	3	1	1	1	2	0	3	1	3	1	2	4	2	2	2	4	3	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1043C>T	p.Ser348Phe	p.S348F	ENST00000312994	5/9	61	48	13	60	60	0	strelka-varscan-mutect	EXD2,missense_variant,p.Ser348Phe,ENST00000312994,NM_001193362.1,NM_001193363.1;EXD2,missense_variant,p.Ser223Phe,ENST00000409014,;EXD2,missense_variant,p.Ser348Phe,ENST00000409018,NM_001193361.1,NM_001193360.1;EXD2,missense_variant,p.Ser223Phe,ENST00000409675,NM_018199.3;EXD2,missense_variant,p.Ser223Phe,ENST00000409949,;EXD2,missense_variant,p.Ser223Phe,ENST00000409242,;EXD2,downstream_gene_variant,,ENST00000413191,;RP11-363J20.2,downstream_gene_variant,,ENST00000556316,;EXD2,non_coding_transcript_exon_variant,,ENST00000492815,;EXD2,downstream_gene_variant,,ENST00000489133,;EXD2,downstream_gene_variant,,ENST00000494629,;EXD2,upstream_gene_variant,,ENST00000465286,;	T	ENST00000312994	Transcript	missense_variant	1364/5107	1043/1866	348/621	S/F	tCt/tTt		1		1	EXD2	HGNC	HGNC:20217	protein_coding	YES	CCDS53902.1	ENSP00000313140	Q9NVH0		UPI0000577ED7	NM_001193362.1,NM_001193363.1	deleterious(0)		5/9		hmmpanther:PTHR13620,hmmpanther:PTHR13620:SF0																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	46	69235025	69235025	C	T	1	0	0	0	0	1	0	0	0	5165	913	32	3		3	EXD2	14	69235025	Missense_Mutation	SNP	C	C3N-00294_TP	1677639	69235025	37808693	923	14425											
ELMSAN1	0	.	GRCh38	chr14	73739586	73739586	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccccttggttgcactgtaGagggacagactgtggcagtt	7	11	13	10	0	0	2	0	0	0	2	1	3	1	3	2	3	1	5	2	3	1	4	rs149894352		C3N-00294_TP	C3N-00294_NB	G	G																c.423C>G	p.=	p.L141L	ENST00000286523	2/12	222	178	44	237	237	0	strelka-varscan-mutect	ELMSAN1,synonymous_variant,p.=,ENST00000286523,NM_194278.3;ELMSAN1,synonymous_variant,p.=,ENST00000394071,NM_001043318.2;ELMSAN1,synonymous_variant,p.=,ENST00000435371,;ELMSAN1,synonymous_variant,p.=,ENST00000423556,;ELMSAN1,downstream_gene_variant,,ENST00000421708,;ELMSAN1,downstream_gene_variant,,ENST00000486739,;ELMSAN1,upstream_gene_variant,,ENST00000451078,;	C	ENST00000286523	Transcript	synonymous_variant	1206/8091	423/3138	141/1045	L	ctC/ctG	rs149894352	1		-1	ELMSAN1	HGNC	HGNC:19853	protein_coding	YES	CCDS9819.1	ENSP00000286523	Q6PJG2	A0A024R689	UPI00001FD815	NM_194278.3			2/12		hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF24																	LOW	1	SNV	1			1										PASS		rs149894352	.												C	2	2	46	73739586	73739586	G	C	1	0	0	0	0	0	0	0	1	4905	929	33	4		4	ELMSAN1	14	73739586	Silent	SNP	G	C3N-00294_TP	4504561	73739586	33304132	924	14426											
LIN52	0	.	GRCh38	chr14	74101220	74101220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctacagaacctagcctatCagctggggctggatgagtgt	9	9	13	10	0	1	2	1	1	0	1	1	3	1	3	3	3	4	2	3	3	4	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.277C>G	p.Gln93Glu	p.Q93E	ENST00000555028	5/6	112	92	20	98	98	0	strelka-varscan-mutect	LIN52,missense_variant,p.Gln93Glu,ENST00000555028,NM_001024674.2;LIN52,intron_variant,,ENST00000554938,;LIN52,non_coding_transcript_exon_variant,,ENST00000554076,;LIN52,intron_variant,,ENST00000553404,;LIN52,downstream_gene_variant,,ENST00000554289,;	G	ENST00000555028	Transcript	missense_variant	444/2776	277/351	93/116	Q/E	Cag/Gag		1		1	LIN52	HGNC	HGNC:19856	protein_coding	YES	CCDS32120.1	ENSP00000451812	Q52LA3		UPI00000E9291	NM_001024674.2	deleterious(0)		5/6		hmmpanther:PTHR31489,Pfam_domain:PF10044																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	74101220	74101220	C	G	1	0	0	0	0	1	0	0	0	8716	827	29	4		4	LIN52	14	74101220	Missense_Mutation	SNP	C	C3N-00294_TP	361634	74101220	32942498	925	14427											
AREL1	0	.	GRCh38	chr14	74675759	74675759	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttctcaggggtgtggcaCtcagagggcgagtcttcatc	7	10	13	11	1	4	1	3	0	2	1	6	2	4	1	1	4	0	1	1	4	0	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1020G>A	p.=	p.E340E	ENST00000356357	8/20	186	134	52	183	183	0	strelka-varscan-mutect	AREL1,synonymous_variant,p.=,ENST00000356357,NM_001039479.1;AREL1,synonymous_variant,p.=,ENST00000556202,;AREL1,synonymous_variant,p.=,ENST00000490805,;AREL1,non_coding_transcript_exon_variant,,ENST00000557401,;AREL1,synonymous_variant,p.=,ENST00000555330,;AREL1,non_coding_transcript_exon_variant,,ENST00000469797,;AREL1,non_coding_transcript_exon_variant,,ENST00000556327,;AREL1,upstream_gene_variant,,ENST00000481010,;AREL1,downstream_gene_variant,,ENST00000553411,;AREL1,downstream_gene_variant,,ENST00000553279,;	T	ENST00000356357	Transcript	synonymous_variant	1536/5456	1020/2472	340/823	E	gaG/gaA		1		-1	AREL1	HGNC	HGNC:20363	protein_coding	YES	CCDS41971.1	ENSP00000348714	O15033		UPI0000073D44	NM_001039479.1			8/20		hmmpanther:PTHR11254:SF340,hmmpanther:PTHR11254																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	74675759	74675759	C	T	1	0	0	0	0	0	0	0	1	966	564	20	3		3	AREL1	14	74675759	Silent	SNP	C	C3N-00294_TP	574539	74675759	32367959	926	14428											
NRXN3	0	.	GRCh38	chr14	78967253	78967253	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaacggtcccaatgtgatCaaaggcaacagtgaccgccc	13	5	11	12	2	1	2	1	2	0	0	2	3	2	3	3	3	2	1	3	3	4	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1704C>G	p.Ile568Met	p.I568M	ENST00000554719	10/17	161	124	37	169	169	0	strelka-varscan-mutect	NRXN3,missense_variant,p.Ile930Met,ENST00000634499,;NRXN3,missense_variant,p.Ile941Met,ENST00000635466,;NRXN3,missense_variant,p.Ile568Met,ENST00000554719,NM_004796.5;NRXN3,missense_variant,p.Ile702Met,ENST00000335750,;NRXN3,non_coding_transcript_exon_variant,,ENST00000634266,;NRXN3,missense_variant,p.Ile930Met,ENST00000554738,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556496,;	G	ENST00000554719	Transcript	missense_variant	2195/4156	1704/3186	568/1061	I/M	atC/atG		1		1	NRXN3	HGNC	HGNC:8010	protein_coding	YES	CCDS9870.1	ENSP00000451648	Q9Y4C0		UPI0000167BBA	NM_004796.5	tolerated(1)		10/17		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF405,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	78967253	78967253	C	G	1	0	0	0	0	1	0	0	0	10726	816	29	4		4	NRXN3	14	78967253	Missense_Mutation	SNP	C	C3N-00294_TP	4291494	78967253	28076465	927	14429											
SEL1L	0	.	GRCh38	chr14	81506095	81506095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacaaaagccccacttttCatctgctttgtagtcatagg	10	14	6	11	0	4	0	3	0	1	0	4	0	4	0	2	1	2	2	2	1	4	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.487G>A	p.Glu163Lys	p.E163K	ENST00000336735	4/21	91	69	22	97	97	0	strelka-varscan-mutect	SEL1L,missense_variant,p.Glu163Lys,ENST00000336735,NM_005065.5;SEL1L,missense_variant,p.Glu163Lys,ENST00000555824,NM_001244984.1;SEL1L,missense_variant,p.Glu142Lys,ENST00000557372,;SEL1L,non_coding_transcript_exon_variant,,ENST00000554744,;	T	ENST00000336735	Transcript	missense_variant	604/7925	487/2385	163/794	E/K	Gaa/Aaa		1		-1	SEL1L	HGNC	HGNC:10717	protein_coding	YES	CCDS9876.1	ENSP00000337053	Q9UBV2		UPI0000135746	NM_005065.5	tolerated_low_confidence(1)		4/21		Gene3D:2.10.10.10,Pfam_domain:PF00040,Prints_domain:PR00013,PROSITE_patterns:PS00023,PROSITE_profiles:PS51092,SMART_domains:SM00059,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	81506095	81506095	C	T	1	0	0	0	0	1	0	0	0	14287	835	29	3		3	SEL1L	14	81506095	Missense_Mutation	SNP	C	C3N-00294_TP	2538842	81506095	25537623	928	14430											
CCDC88C	0	.	GRCh38	chr14	91307203	91307203	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctctccctggttctgcctGagggtctcacactccttctt	3	14	7	17	0	4	1	1	1	4	0	7	1	5	1	4	2	1	1	4	2	0	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3030C>G	p.=	p.L1010L	ENST00000389857	18/30	188	150	38	214	214	0	strelka-varscan-mutect	CCDC88C,synonymous_variant,p.=,ENST00000389857,NM_001080414.3;	C	ENST00000389857	Transcript	synonymous_variant	3117/7474	3030/6087	1010/2028	L	ctC/ctG		1		-1	CCDC88C	HGNC	HGNC:19967	protein_coding	YES	CCDS45151.1	ENSP00000374507	Q9P219		UPI00006C1440	NM_001080414.3			18/30		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF31																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	46	91307203	91307203	G	C	1	0	0	0	0	0	0	0	1	2564	1277	45	4		4	CCDC88C	14	91307203	Silent	SNP	G	C3N-00294_TP	9801108	91307203	15736515	929	14431											
TRIP11	0	.	GRCh38	chr14	92006220	92006220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagctgatctactaaattttCtactttgtcctcaagtttct	9	19	4	9	0	4	1	1	1	3	0	5	1	5	1	1	0	3	2	1	0	6	8	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1756G>C	p.Glu586Gln	p.E586Q	ENST00000267622	11/21	82	62	20	140	140	0	strelka-varscan-mutect	TRIP11,missense_variant,p.Glu586Gln,ENST00000267622,NM_001321851.1,NM_004239.3;TRIP11,missense_variant,p.Glu302Gln,ENST00000554357,;	G	ENST00000267622	Transcript	missense_variant	2130/9996	1756/5940	586/1979	E/Q	Gaa/Caa		1		-1	TRIP11	HGNC	HGNC:12305	protein_coding	YES	CCDS9899.1	ENSP00000267622	Q15643		UPI000013D767	NM_001321851.1,NM_004239.3	tolerated(0.15)		11/21		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18921,hmmpanther:PTHR18921:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	92006220	92006220	C	G	1	0	0	0	0	1	0	0	0	17052	922	32	4		4	TRIP11	14	92006220	Missense_Mutation	SNP	C	C3N-00294_TP	699017	92006220	15037498	930	14432											
UNC79	0	.	GRCh38	chr14	93622403	93622403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaagaccctatggacgccGaaggatcctcaaagccagag	13	5	12	11	2	1	2	1	0	0	2	2	6	2	5	4	3	1	0	4	3	4	1	rs761093792		C3N-00294_TP	C3N-00294_NB	G	G																c.4639G>A	p.Glu1547Lys	p.E1547K	ENST00000256339	30/50	137	110	27	163	162	1	strelka-varscan-mutect	UNC79,missense_variant,p.Glu1746Lys,ENST00000553484,;UNC79,missense_variant,p.Glu1724Lys,ENST00000555664,;UNC79,missense_variant,p.Glu1547Lys,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Glu1724Lys,ENST00000393151,;UNC79,missense_variant,p.Glu1547Lys,ENST00000621021,;	A	ENST00000256339	Transcript	missense_variant	5294/8400	4639/7377	1547/2458	E/K	Gaa/Aaa	rs761093792	1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3	tolerated_low_confidence(0.3)		30/50																			MODERATE	1	SNV	5			1										PASS		rs761093792	.												A	3	1	46	93622403	93622403	G	A	1	0	0	0	0	1	0	0	0	17520	1059	37	1		1	UNC79	14	93622403	Missense_Mutation	SNP	G	C3N-00294_TP	1616183	93622403	13421315	931	14433											
SERPINA1	0	.	GRCh38	chr14	94382886	94382886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggagttcctggaagccttCatggatctgagcctccggaa	9	9	13	10	1	2	1	1	1	1	0	4	6	4	5	4	4	2	1	4	4	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.352G>A	p.Glu118Lys	p.E118K	ENST00000448921	4/7	117	90	27	156	156	0	strelka-varscan-mutect	SERPINA1,missense_variant,p.Glu118Lys,ENST00000448921,NM_001002236.2,NM_001127703.1,NM_001127701.1,NM_001127704.1,NM_001127705.1;SERPINA1,missense_variant,p.Glu118Lys,ENST00000437397,NM_001127706.1,NM_001127707.1,NM_001127702.1;SERPINA1,missense_variant,p.Glu118Lys,ENST00000355814,NM_001002235.2,NM_001127700.1;SERPINA1,missense_variant,p.Glu118Lys,ENST00000440909,;SERPINA1,missense_variant,p.Glu118Lys,ENST00000393088,;SERPINA1,missense_variant,p.Glu118Lys,ENST00000404814,;SERPINA1,missense_variant,p.Glu118Lys,ENST00000393087,NM_000295.4;SERPINA1,missense_variant,p.Glu118Lys,ENST00000449399,;SERPINA1,missense_variant,p.Glu118Lys,ENST00000636712,;SERPINA1,missense_variant,p.Glu118Lys,ENST00000402629,;SERPINA1,missense_variant,p.Glu118Lys,ENST00000557492,;SERPINA1,missense_variant,p.Glu118Lys,ENST00000556091,;SERPINA1,missense_variant,p.Glu32Lys,ENST00000554720,;SERPINA1,downstream_gene_variant,,ENST00000557118,;SERPINA1,downstream_gene_variant,,ENST00000553327,;SERPINA1,downstream_gene_variant,,ENST00000556955,;SERPINA1,downstream_gene_variant,,ENST00000555289,;SERPINA1,missense_variant,p.Glu118Lys,ENST00000489769,;	T	ENST00000448921	Transcript	missense_variant	925/3532	352/1257	118/418	E/K	Gaa/Aaa		1		-1	SERPINA1	HGNC	HGNC:8941	protein_coding	YES	CCDS9925.1	ENSP00000416066	P01009	E9KL23	UPI000000CBEC	NM_001002236.2,NM_001127703.1,NM_001127701.1,NM_001127704.1,NM_001127705.1	tolerated(0.43)		4/7		hmmpanther:PTHR11461:SF165,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	94382886	94382886	C	T	1	0	0	0	0	1	0	0	0	14362	835	29	3		3	SERPINA1	14	94382886	Missense_Mutation	SNP	C	C3N-00294_TP	760483	94382886	12660832	932	14434											
DICER1	0	.	GRCh38	chr14	95096292	95096292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtgcaagtcgtaagaaatgGactgctttcccgtgtcaaca	11	11	10	9	2	1	1	1	0	0	1	3	2	2	2	1	1	3	3	1	1	4	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4628C>T	p.Ser1543Phe	p.S1543F	ENST00000526495	25/29	513	412	101	569	569	0	strelka-varscan-mutect	DICER1,missense_variant,p.Ser1543Phe,ENST00000526495,NM_030621.4,NM_001291628.1;DICER1,missense_variant,p.Ser1543Phe,ENST00000343455,NM_177438.2;DICER1,missense_variant,p.Ser1543Phe,ENST00000393063,;DICER1,missense_variant,p.Ser1543Phe,ENST00000527414,NM_001271282.2;DICER1,missense_variant,p.Ser1543Phe,ENST00000541352,NM_001195573.1;DICER1,missense_variant,p.Ser441Phe,ENST00000556045,;DICER1,missense_variant,p.Ser222Phe,ENST00000532939,;DICER1,upstream_gene_variant,,ENST00000527416,;DICER1,upstream_gene_variant,,ENST00000527554,;	A	ENST00000526495	Transcript	missense_variant	4920/10331	4628/5769	1543/1922	S/F	tCc/tTc		1		-1	DICER1	HGNC	HGNC:17098	protein_coding	YES	CCDS9931.1	ENSP00000437256	Q9UPY3		UPI0000168662	NM_030621.4,NM_001291628.1	tolerated(0.73)		25/29		Gene3D:1.10.1520.10,Pfam_domain:PF00636,hmmpanther:PTHR14950,hmmpanther:PTHR14950:SF26,SMART_domains:SM00535																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	95096292	95096292	G	A	1	0	0	0	0	1	0	0	0	4325	1174	41	3		3	DICER1	14	95096292	Missense_Mutation	SNP	G	C3N-00294_TP	713406	95096292	11947426	933	14435											
BDKRB1	0	.	GRCh38	chr14	96264315	96264315	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagttaaatattctgggtttCctcctaccactggctgcgat	8	14	9	10	1	1	0	0	0	1	0	3	2	3	0	3	2	2	3	3	2	4	5	rs774234943		C3N-00294_TP	C3N-00294_NB	C	C																c.633C>G	p.Phe211Leu	p.F211L	ENST00000216629	3/3	290	249	41	278	278	0	strelka-varscan-mutect	BDKRB1,missense_variant,p.Phe211Leu,ENST00000216629,NM_000710.3;BDKRB1,missense_variant,p.Phe211Leu,ENST00000553356,;BDKRB1,missense_variant,p.Phe211Leu,ENST00000611804,;RP11-404P21.8,downstream_gene_variant,,ENST00000553811,;RP11-404P21.3,intron_variant,,ENST00000553638,;BDKRB1,upstream_gene_variant,,ENST00000557122,;RP11-404P21.8,downstream_gene_variant,,ENST00000555847,;	G	ENST00000216629	Transcript	missense_variant	1239/1687	633/1062	211/353	F/L	ttC/ttG	rs774234943,COSM3499564	1		1	BDKRB1	HGNC	HGNC:1029	protein_coding	YES	CCDS9943.1	ENSP00000216629	P46663		UPI0000000348	NM_000710.3	deleterious(0)		3/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF28,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs774234943	.												G	3	3	46	96264315	96264315	C	G	1	0	0	0	0	1	0	0	0	1539	854	30	4		4	BDKRB1	14	96264315	Missense_Mutation	SNP	C	C3N-00294_TP	1168023	96264315	10779403	934	14436											
CYP46A1	0	.	GRCh38	chr14	99716180	99716180	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagggtctgctggacaacttCgtcaccttcttcattgctgg	6	13	11	11	1	4	0	2	0	2	0	5	2	4	1	1	3	3	2	1	3	1	4	rs780395313		C3N-00294_TP	C3N-00294_NB	C	C																c.888C>T	p.=	p.F296F	ENST00000261835	9/15	220	187	33	263	262	1	strelka-varscan-mutect	CYP46A1,synonymous_variant,p.=,ENST00000261835,NM_006668.1;CYP46A1,synonymous_variant,p.=,ENST00000380228,;CYP46A1,synonymous_variant,p.=,ENST00000556313,;CYP46A1,3_prime_UTR_variant,,ENST00000554917,;CYP46A1,non_coding_transcript_exon_variant,,ENST00000554176,;CYP46A1,downstream_gene_variant,,ENST00000554611,;CYP46A1,upstream_gene_variant,,ENST00000556822,;	T	ENST00000261835	Transcript	synonymous_variant	992/2181	888/1503	296/500	F	ttC/ttT	rs780395313,COSM3493740	1		1	CYP46A1	HGNC	HGNC:2641	protein_coding	YES	CCDS9954.1	ENSP00000261835	Q9Y6A2		UPI00001281DC	NM_006668.1			9/15		Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24293,hmmpanther:PTHR24293:SF2,Superfamily_domains:SSF48264											0,1						LOW	1	SNV	1		0,1	1										PASS		rs780395313	.												T	2	4	46	99716180	99716180	C	T	1	0	0	0	0	0	0	0	1	3985	883	31	1		1	CYP46A1	14	99716180	Silent	SNP	C	C3N-00294_TP	3451865	99716180	7327538	935	14437											
EML1	0	.	GRCh38	chr14	99914588	99914588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcacactgatgagctctgggGactggccatccatgcctcaa	9	9	10	13	0	3	2	2	2	1	0	4	3	4	3	3	3	2	1	3	3	1	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1700G>A	p.Gly567Glu	p.G567E	ENST00000334192	16/23	104	97	7	113	113	0	strelka-varscan-mutect	EML1,missense_variant,p.Gly548Glu,ENST00000262233,NM_004434.2;EML1,missense_variant,p.Gly567Glu,ENST00000334192,NM_001008707.1;EML1,missense_variant,p.Gly536Glu,ENST00000327921,;EML1,downstream_gene_variant,,ENST00000554386,;EML1,downstream_gene_variant,,ENST00000555812,;EML1,missense_variant,p.Gly5Glu,ENST00000557313,;EML1,non_coding_transcript_exon_variant,,ENST00000554111,;EML1,downstream_gene_variant,,ENST00000554553,;	A	ENST00000334192	Transcript	missense_variant	1834/4064	1700/2505	567/834	G/E	gGa/gAa		1		1	EML1	HGNC	HGNC:3330	protein_coding	YES	CCDS32154.1	ENSP00000334314	O00423		UPI00004A074E	NM_001008707.1	deleterious(0)		16/23		Gene3D:2.130.10.10,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF22,SMART_domains:SM00320,Superfamily_domains:SSF50998																	MODERATE	1	SNV	5			1										PASS		rs1192076161	.												A	3	1	46	99914588	99914588	G	A	1	0	0	0	0	1	0	0	0	4939	1174	41	3		3	EML1	14	99914588	Missense_Mutation	SNP	G	C3N-00294_TP	198408	99914588	7129130	936	14438											
DYNC1H1	0	.	GRCh38	chr14	102041708	102041708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatggagcagccgctcGacctgacccacattgtgggc	8	7	11	15	2	1	1	1	1	0	0	2	3	1	2	4	2	2	2	4	2	0	1	rs768636289		C3N-00294_TP	C3N-00294_NB	G	G																c.12076G>T	p.Asp4026Tyr	p.D4026Y	ENST00000360184	65/78	353	223	130	464	463	1	strelka-varscan-mutect	DYNC1H1,missense_variant,p.Asp4026Tyr,ENST00000360184,NM_001376.4;DYNC1H1,downstream_gene_variant,,ENST00000553423,;RP11-1017G21.4,intron_variant,,ENST00000557551,;RP11-1017G21.4,intron_variant,,ENST00000557242,;RP11-1017G21.4,intron_variant,,ENST00000553701,;DYNC1H1,downstream_gene_variant,,ENST00000556791,;DYNC1H1,upstream_gene_variant,,ENST00000555102,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000556139,;DYNC1H1,downstream_gene_variant,,ENST00000556499,;DYNC1H1,downstream_gene_variant,,ENST00000555800,;	T	ENST00000360184	Transcript	missense_variant	12240/14333	12076/13941	4026/4646	D/Y	Gac/Tac	rs768636289,COSM400505	1		1	DYNC1H1	HGNC	HGNC:2961	protein_coding	YES	CCDS9966.1	ENSP00000348965	Q14204		UPI00001B515A	NM_001376.4	deleterious(0)		65/78		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF28											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs768636289	.												T	3	4	46	102041708	102041708	G	T	1	0	0	0	0	1	0	0	0	4665	1058	37	1		1	DYNC1H1	14	102041708	Missense_Mutation	SNP	G	C3N-00294_TP	2127120	102041708	5002010	937	14439											
DYNC1H1	0	.	GRCh38	chr14	102042709	102042709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggtgaaggccaacatgctGaggacgttcagcagcattcc	10	7	14	10	1	1	2	1	2	0	0	2	3	2	3	2	4	4	4	2	4	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.12474G>A	p.=	p.L4158L	ENST00000360184	69/78	588	474	114	629	629	0	strelka-varscan-mutect	DYNC1H1,synonymous_variant,p.=,ENST00000360184,NM_001376.4;DYNC1H1,downstream_gene_variant,,ENST00000553423,;RP11-1017G21.4,intron_variant,,ENST00000557551,;RP11-1017G21.4,intron_variant,,ENST00000557242,;RP11-1017G21.4,intron_variant,,ENST00000553701,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000555102,;DYNC1H1,downstream_gene_variant,,ENST00000556139,;DYNC1H1,upstream_gene_variant,,ENST00000556229,;DYNC1H1,downstream_gene_variant,,ENST00000556499,;DYNC1H1,downstream_gene_variant,,ENST00000555800,;	A	ENST00000360184	Transcript	synonymous_variant	12638/14333	12474/13941	4158/4646	L	ctG/ctA		1		1	DYNC1H1	HGNC	HGNC:2961	protein_coding	YES	CCDS9966.1	ENSP00000348965	Q14204		UPI00001B515A	NM_001376.4			69/78		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF28																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	102042709	102042709	G	A	1	0	0	0	0	0	0	0	1	4665	1277	45	3		3	DYNC1H1	14	102042709	Silent	SNP	G	C3N-00294_TP	1001	102042709	5001009	938	14440											
MOK	0	.	GRCh38	chr14	102232587	102232587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtgggcggcgattctctCatcgggatcataggccacca	7	9	13	12	3	3	0	2	0	1	0	5	2	3	1	2	5	0	0	2	5	1	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.814G>A	p.Glu272Lys	p.E272K	ENST00000361847	9/12	118	95	23	106	106	0	strelka-varscan-mutect	MOK,missense_variant,p.Glu272Lys,ENST00000361847,NM_014226.2;MOK,missense_variant,p.Glu271Lys,ENST00000522874,;MOK,missense_variant,p.Met4Ile,ENST00000522867,;MOK,missense_variant,p.Glu271Lys,ENST00000193029,;MOK,missense_variant,p.Glu242Lys,ENST00000524214,NM_001272011.1;MOK,missense_variant,p.Met4Ile,ENST00000517966,;MOK,missense_variant,p.Met4Ile,ENST00000524370,;MOK,missense_variant,p.Met4Ile,ENST00000523231,;MOK,missense_variant,p.Met4Ile,ENST00000519058,;MOK,missense_variant,p.Met4Ile,ENST00000522534,;MOK,missense_variant,p.Glu152Lys,ENST00000559838,;MOK,missense_variant,p.Met4Ile,ENST00000522537,;MOK,missense_variant,p.Met4Ile,ENST00000561150,;MOK,upstream_gene_variant,,ENST00000521937,;MOK,non_coding_transcript_exon_variant,,ENST00000519477,;MOK,non_coding_transcript_exon_variant,,ENST00000524120,;MOK,intron_variant,,ENST00000520266,;MOK,intron_variant,,ENST00000557823,;MOK,missense_variant,p.Met4Ile,ENST00000559138,;MOK,3_prime_UTR_variant,,ENST00000521766,;MOK,3_prime_UTR_variant,,ENST00000521388,;MOK,non_coding_transcript_exon_variant,,ENST00000521249,;MOK,non_coding_transcript_exon_variant,,ENST00000518686,;MOK,non_coding_transcript_exon_variant,,ENST00000523485,;MOK,non_coding_transcript_exon_variant,,ENST00000519569,;MOK,non_coding_transcript_exon_variant,,ENST00000520046,;MOK,non_coding_transcript_exon_variant,,ENST00000520252,;MOK,downstream_gene_variant,,ENST00000562292,;	T	ENST00000361847	Transcript	missense_variant	1046/1940	814/1260	272/419	E/K	Gag/Aag		1		-1	MOK	HGNC	HGNC:9833	protein_coding	YES	CCDS9971.1	ENSP00000355304	Q9UQ07		UPI0000035B77	NM_014226.2	tolerated(0.08)		9/12		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF72,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	102232587	102232587	C	T	1	0	0	0	0	1	0	0	0	9661	835	29	3		3	MOK	14	102232587	Missense_Mutation	SNP	C	C3N-00294_TP	189878	102232587	4811131	939	14441											
TRMT61A	0	.	GRCh38	chr14	103530018	103530018	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagctgatcaaggagggtGacacggccatcctgtcactg	10	7	14	10	1	2	2	2	2	0	0	3	4	3	4	2	4	1	1	2	4	1	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.40G>C	p.Asp14His	p.D14H	ENST00000389749	2/4	147	114	33	149	149	0	strelka-varscan-mutect	TRMT61A,missense_variant,p.Asp14His,ENST00000389749,NM_152307.2;TRMT61A,intron_variant,,ENST00000299202,;RP11-600F24.7,upstream_gene_variant,,ENST00000568177,;	C	ENST00000389749	Transcript	missense_variant	147/3229	40/870	14/289	D/H	Gac/Cac		1		1	TRMT61A	HGNC	HGNC:23790	protein_coding	YES	CCDS41994.1	ENSP00000374399	Q96FX7	A0A024R6Q2	UPI0000072BC7	NM_152307.2	deleterious(0)		2/4		PROSITE_profiles:PS51620,hmmpanther:PTHR12133,hmmpanther:PTHR12133:SF2,Gene3D:3.10.330.20,PIRSF_domain:PIRSF017269,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	103530018	103530018	G	C	1	0	0	0	0	1	0	0	0	17074	1290	45	4		4	TRMT61A	14	103530018	Missense_Mutation	SNP	G	C3N-00294_TP	1297431	103530018	3513700	940	14442											
KIF26A	0	.	GRCh38	chr14	104179715	104179715	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacctgtgcaaggcgcacgtCatgatggtcacctgcttcga	9	9	11	12	3	2	1	2	1	0	0	3	2	2	1	2	2	3	3	2	2	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.5574C>T	p.=	p.V1858V	ENST00000423312	15/15	121	104	17	138	138	0	strelka-varscan-mutect	KIF26A,synonymous_variant,p.=,ENST00000315264,;KIF26A,synonymous_variant,p.=,ENST00000423312,NM_015656.1;	T	ENST00000423312	Transcript	synonymous_variant	5574/5649	5574/5649	1858/1882	V	gtC/gtT		1		1	KIF26A	HGNC	HGNC:20226	protein_coding	YES	CCDS45171.1	ENSP00000388241	Q9ULI4		UPI00006C145D	NM_015656.1			15/15		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	46	104179715	104179715	C	T	1	0	0	0	0	0	0	0	1	8159	813	29	3		3	KIF26A	14	104179715	Silent	SNP	C	C3N-00294_TP	649697	104179715	2864003	941	14443											
ZBTB42	0	.	GRCh38	chr14	104801510	104801510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcagccgccagctacCtgcacatgtatgacatcgtc	8	9	9	15	2	0	1	0	1	0	0	3	1	1	1	4	1	4	4	4	1	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.313C>T	p.=	p.L105L	ENST00000342537	1/1	235	198	37	282	282	0	strelka-varscan-mutect	ZBTB42,synonymous_variant,p.=,ENST00000342537,;ZBTB42,synonymous_variant,p.=,ENST00000555360,NM_001137601.1;	T	ENST00000342537	Transcript	synonymous_variant	598/3800	313/1269	105/422	L	Ctg/Ttg		1		1	ZBTB42	HGNC	HGNC:32550	protein_coding	YES	CCDS45174.1	ENSP00000409107	B2RXF5		UPI0001849D48				1/1		hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF293,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695																	LOW	1	SNV				1										PASS		.	.												T	2	4	46	104801510	104801510	C	T	1	0	0	0	0	0	0	0	1	18113	680	24	3		3	ZBTB42	14	104801510	Silent	SNP	C	C3N-00294_TP	621795	104801510	2242208	942	14444											
PACS2	0	.	GRCh38	chr14	105381061	105381061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggctgccgcccagcgggagGatcaccaagacagagtccct	10	4	13	14	2	1	2	1	0	0	2	2	4	2	4	4	3	2	1	4	3	1	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1230G>T	p.Arg410Ser	p.R410S	ENST00000447393	12/25	122	67	55	130	130	0	strelka-varscan-mutect	PACS2,missense_variant,p.Arg410Ser,ENST00000447393,NM_001100913.2;PACS2,missense_variant,p.Arg410Ser,ENST00000325438,NM_015197.3;PACS2,missense_variant,p.Arg335Ser,ENST00000430725,NM_001243127.2;PACS2,missense_variant,p.Arg380Ser,ENST00000547217,;PACS2,non_coding_transcript_exon_variant,,ENST00000551692,;PACS2,upstream_gene_variant,,ENST00000551743,;PACS2,upstream_gene_variant,,ENST00000547903,;	T	ENST00000447393	Transcript	missense_variant	1405/6365	1230/2715	410/904	R/S	agG/agT		1		1	PACS2	HGNC	HGNC:23794	protein_coding	YES	CCDS45178.2	ENSP00000393559	Q86VP3		UPI0000E56F01	NM_001100913.2	tolerated(0.18)		12/25		hmmpanther:PTHR13280:SF15,hmmpanther:PTHR13280																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	105381061	105381061	G	T	1	0	0	0	0	1	0	0	0	11451	1165	41	2		2	PACS2	14	105381061	Missense_Mutation	SNP	G	C3N-00294_TP	579551	105381061	1662657	943	14445											
OR4N4	0	.	GRCh38	chr15	22095172	22095172	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctggggcttctggcttcCtatgcagtcatcctctgcca	4	15	9	13	0	4	0	1	0	3	0	6	0	6	0	3	3	2	3	3	3	1	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.651C>A	p.=	p.S217S	ENST00000328795	1/1	98	84	14	68	68	0	varscan-mutect	OR4N4,synonymous_variant,p.=,ENST00000328795,NM_001005241.3;	A	ENST00000328795	Transcript	synonymous_variant	742/1126	651/951	217/316	S	tcC/tcA		1		1	OR4N4	HGNC	HGNC:15375	protein_coding	YES	CCDS32173.1	ENSP00000332500	Q8N0Y3	A0A126GVN2	UPI0000041C1A	NM_001005241.3			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF97,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs1185204893	.												A	2	1	46	22095172	22095172	C	A	1	0	0	0	0	0	0	0	1	11154	668	24	2		2	OR4N4	15	22095172	Silent	SNP	C	C3N-00294_TP		22095172	79896017	944	14446											
MKRN3	0	.	GRCh38	chr15	23567096	23567096	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccaggtggtgggtcattCagcgcatactggcatcaact	8	9	14	10	1	3	0	3	0	0	0	3	0	3	0	1	5	3	2	1	5	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1314C>T	p.=	p.F438F	ENST00000314520	1/1	202	149	53	207	207	0	strelka-varscan-mutect	MKRN3,synonymous_variant,p.=,ENST00000314520,NM_005664.3;MKRN3,intron_variant,,ENST00000568252,;MKRN3,intron_variant,,ENST00000564592,;AC126407.1,upstream_gene_variant,,ENST00000626930,;MIR4508,upstream_gene_variant,,ENST00000584178,;MKRN3-AS1,downstream_gene_variant,,ENST00000563044,;MKRN3,intron_variant,,ENST00000568945,;MKRN3,intron_variant,,ENST00000570112,;	T	ENST00000314520	Transcript	synonymous_variant	1413/2337	1314/1524	438/507	F	ttC/ttT		1		1	MKRN3	HGNC	HGNC:7114	protein_coding	YES	CCDS10013.1	ENSP00000313881	Q13064		UPI000000DAA1	NM_005664.3			1/1		hmmpanther:PTHR11224:SF38,hmmpanther:PTHR11224,Pfam_domain:PF15815																	LOW		SNV				1										PASS		.	.												T	2	4	46	23567096	23567096	C	T	1	0	0	0	0	0	0	0	1	9576	825	29	3		3	MKRN3	15	23567096	Silent	SNP	C	C3N-00294_TP	1471924	23567096	78424093	945	14447											
MAGEL2	0	.	GRCh38	chr15	23644149	23644149	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagcttggccaaaaacctCaggacaagcatcttgctggt	11	9	11	10	0	2	0	1	0	1	0	2	2	2	2	2	4	4	3	2	4	3	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3594G>A	p.=	p.L1198L	ENST00000532292	1/1	121	99	22	148	148	0	strelka-varscan-mutect	MAGEL2,synonymous_variant,p.=,ENST00000532292,NM_019066.4;	T	ENST00000532292	Transcript	synonymous_variant	3693/4298	3594/3750	1198/1249	L	ctG/ctA		1		-1	MAGEL2	HGNC	HGNC:6814	protein_coding	YES	CCDS73700.1	ENSP00000433433	Q9UJ55		UPI0001B3CB28	NM_019066.4			1/1		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66																	LOW	1	SNV				1										PASS		.	.												T	2	4	46	23644149	23644149	C	T	1	0	0	0	0	0	0	0	1	9107	813	29	3		3	MAGEL2	15	23644149	Silent	SNP	C	C3N-00294_TP	77053	23644149	78347040	946	14448											
GOLGA8M	0	.	GRCh38	chr15	28709537	28709537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcctcttacctccagatCtttcagggtagcagatgatg	10	11	10	10	0	3	4	1	1	2	3	4	4	4	4	3	1	3	2	3	1	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.220G>T	p.Asp74Tyr	p.D74Y	ENST00000563027	3/19	63	53	10	109	109	0	varscan-mutect	GOLGA8M,missense_variant,p.Asp74Tyr,ENST00000563027,NM_001282468.1;GOLGA8M,non_coding_transcript_exon_variant,,ENST00000563213,;	A	ENST00000563027	Transcript	missense_variant	220/1899	220/1899	74/632	D/Y	Gat/Tat		1		-1	GOLGA8M	HGNC	HGNC:44404	protein_coding	YES	CCDS61572.1	ENSP00000456927	H3BSY2		UPI0001A5E7A0	NM_001282468.1	deleterious(0.03)		3/19		hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	28709537	28709537	C	A	1	0	0	0	0	1	0	0	0	6454	913	32	2		2	GOLGA8M	15	28709537	Missense_Mutation	SNP	C	C3N-00294_TP	5065388	28709537	73281652	947	14449											
TJP1	0	.	GRCh38	chr15	29732467	29732467	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctggttcttctcttgcCagcttttctctggcaacatc	6	17	6	12	0	4	0	0	0	4	0	7	0	4	0	1	2	3	3	1	2	2	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1983G>T	p.=	p.L661L	ENST00000346128	15/28	104	86	18	112	112	0	strelka-varscan-mutect	TJP1,synonymous_variant,p.=,ENST00000346128,NM_003257.4;TJP1,synonymous_variant,p.=,ENST00000614355,;TJP1,synonymous_variant,p.=,ENST00000400011,NM_001301026.1;TJP1,synonymous_variant,p.=,ENST00000356107,NM_001301025.1;TJP1,synonymous_variant,p.=,ENST00000545208,NM_175610.3;RP11-680F8.4,upstream_gene_variant,,ENST00000560740,;TJP1,non_coding_transcript_exon_variant,,ENST00000462916,;HMGN2P5,downstream_gene_variant,,ENST00000436882,;	A	ENST00000346128	Transcript	synonymous_variant	2458/7950	1983/5247	661/1748	L	ctG/ctT		1		-1	TJP1	HGNC	HGNC:11827	protein_coding	YES	CCDS42007.1	ENSP00000281537	Q07157		UPI000013DC83	NM_003257.4			15/28		Gene3D:3.40.50.300,hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF25,SMART_domains:SM00072																	LOW	1	SNV	1			1										PASS		rs1400479695	.												A	2	1	46	29732467	29732467	C	A	1	0	0	0	0	0	0	0	1	16371	581	21	2		2	TJP1	15	29732467	Silent	SNP	C	C3N-00294_TP	1022930	29732467	72258722	948	14450											
GOLGA8K	0	.	GRCh38	chr15	32394175	32394175	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgctctccaggtcctctggGacactcggcatgggctgagg	5	9	14	13	1	2	1	0	1	2	0	5	2	3	2	2	5	1	3	2	5	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1335C>G	p.=	p.V445V	ENST00000512626	15/19	220	186	34	199	199	0	strelka-varscan-mutect	GOLGA8K,synonymous_variant,p.=,ENST00000512626,NM_001282493.1;RN7SL185P,downstream_gene_variant,,ENST00000615150,;RP13-395E19.3,downstream_gene_variant,,ENST00000562108,;	C	ENST00000512626	Transcript	synonymous_variant	1336/1894	1335/1893	445/630	V	gtC/gtG		1		-1	GOLGA8K	HGNC	HGNC:38652	protein_coding	YES	CCDS61577.1	ENSP00000426691	D6RF30		UPI0001A5E7CC	NM_001282493.1			15/19		Pfam_domain:PF15070,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48																	LOW		SNV	5			1										PASS		.	.												C	2	2	46	32394175	32394175	G	C	1	0	0	0	0	0	0	0	1	6453	1161	41	4		4	GOLGA8K	15	32394175	Silent	SNP	G	C3N-00294_TP	2661708	32394175	69597014	949	14451											
RYR3	0	.	GRCh38	chr15	33838332	33838332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaagaggaggaagaagatGaagattcttcttacgtgtta	15	10	12	4	1	2	6	0	1	2	5	2	8	2	8	0	2	1	1	0	2	6	4			C3N-00294_TP	C3N-00294_NB	G	G																c.12352G>A	p.Glu4118Lys	p.E4118K	ENST00000634891	89/104	340	276	64	393	392	1	strelka-varscan-mutect	RYR3,missense_variant,p.Glu4118Lys,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Glu4121Lys,ENST00000622037,;RYR3,missense_variant,p.Glu4113Lys,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Glu4117Lys,ENST00000389232,;RYR3,missense_variant,p.Glu4107Lys,ENST00000634418,;RYR3,upstream_gene_variant,,ENST00000634730,;RYR3,upstream_gene_variant,,ENST00000636568,;RYR3,downstream_gene_variant,,ENST00000635842,;RYR3,downstream_gene_variant,,ENST00000638032,;RYR3,non_coding_transcript_exon_variant,,ENST00000635749,;RYR3,upstream_gene_variant,,ENST00000638052,;RYR3,upstream_gene_variant,,ENST00000636656,;RYR3,upstream_gene_variant,,ENST00000637615,;RYR3,upstream_gene_variant,,ENST00000637984,;RYR3,3_prime_UTR_variant,,ENST00000635790,;RYR3,upstream_gene_variant,,ENST00000637948,;RYR3,upstream_gene_variant,,ENST00000636845,;	A	ENST00000634891	Transcript	missense_variant	12453/15591	12352/14613	4118/4870	E/K	Gaa/Aaa	COSM700083	1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	tolerated(0.1)		89/104		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	46	33838332	33838332	G	A	1	0	0	0	0	1	0	0	0	14030	1291	45	3		3	RYR3	15	33838332	Missense_Mutation	SNP	G	C3N-00294_TP	1444157	33838332	68152857	950	14452											
RYR3	0	.	GRCh38	chr15	33864147	33864147	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcgttccaggttctttctGatgtatttgattaataaaga	10	17	7	7	1	2	3	0	2	2	1	4	3	3	3	2	1	0	3	2	1	4	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.14475G>C	p.=	p.L4825L	ENST00000634891	103/104	99	84	15	144	144	0	strelka-varscan-mutect	RYR3,synonymous_variant,p.=,ENST00000634891,NM_001036.4;RYR3,synonymous_variant,p.=,ENST00000622037,;RYR3,synonymous_variant,p.=,ENST00000415757,NM_001243996.2;RYR3,synonymous_variant,p.=,ENST00000389232,;RYR3,synonymous_variant,p.=,ENST00000634418,;RYR3,synonymous_variant,p.=,ENST00000634730,;RYR3,synonymous_variant,p.=,ENST00000636568,;AVEN,downstream_gene_variant,,ENST00000306730,NM_020371.2;RP11-3D4.2,intron_variant,,ENST00000560268,;RYR3,non_coding_transcript_exon_variant,,ENST00000637072,;RYR3,non_coding_transcript_exon_variant,,ENST00000638052,;AVEN,downstream_gene_variant,,ENST00000558136,;RYR3,downstream_gene_variant,,ENST00000636878,;RYR3,3_prime_UTR_variant,,ENST00000635790,;RYR3,3_prime_UTR_variant,,ENST00000637948,;RYR3,3_prime_UTR_variant,,ENST00000636845,;AVEN,downstream_gene_variant,,ENST00000560649,;	C	ENST00000634891	Transcript	synonymous_variant	14576/15591	14475/14613	4825/4870	L	ctG/ctC		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4			103/104		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	46	33864147	33864147	G	C	1	0	0	0	0	0	0	0	1	14030	1277	45	4		4	RYR3	15	33864147	Silent	SNP	G	C3N-00294_TP	25815	33864147	68127042	951	14453											
RTF1	0	.	GRCh38	chr15	41452998	41452998	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccaacaaaactgcctcctCaggcagttcagacaaagaca	15	5	8	13	0	2	2	2	0	0	2	3	2	3	2	3	2	3	2	3	2	4	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.407C>G	p.Ser136Ter	p.S136*	ENST00000389629	3/18	96	81	15	94	94	0	strelka-varscan-mutect	RTF1,stop_gained,p.Ser136Ter,ENST00000389629,NM_015138.4;RNU6-1169P,upstream_gene_variant,,ENST00000363537,;RTF1,downstream_gene_variant,,ENST00000462276,;RTF1,downstream_gene_variant,,ENST00000558298,;	G	ENST00000389629	Transcript	stop_gained	419/5021	407/2133	136/710	S/*	tCa/tGa		1		1	RTF1	HGNC	HGNC:28996	protein_coding	YES	CCDS32200.2	ENSP00000374280	Q92541		UPI0000E23C14	NM_015138.4			3/18		hmmpanther:PTHR13115,hmmpanther:PTHR13115:SF8,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	46	41452998	41452998	C	G	1	0	0	0	0	0	1	0	0	13980	838	29	4		4	RTF1	15	41452998	Nonsense_Mutation	SNP	C	C3N-00294_TP	7588851	41452998	60538191	952	14454											
MAP1A	0	.	GRCh38	chr15	43523169	43523169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccctctagacactgcagagGagggacccccaagtacagct	11	6	10	14	0	1	2	0	0	1	2	2	4	2	4	3	2	3	3	3	2	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1696G>A	p.Glu566Lys	p.E566K	ENST00000300231	4/6	122	93	29	133	133	0	strelka-varscan-mutect	MAP1A,missense_variant,p.Glu804Lys,ENST00000382031,;MAP1A,missense_variant,p.Glu566Lys,ENST00000300231,NM_002373.5;	A	ENST00000300231	Transcript	missense_variant	2146/10258	1696/8412	566/2803	E/K	Gag/Aag		1		1	MAP1A	HGNC	HGNC:6835	protein_coding	YES	CCDS42031.1	ENSP00000300231	P78559		UPI000013E63C	NM_002373.5	tolerated(0.07)		4/6		hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF6																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	43523169	43523169	G	A	1	0	0	0	0	1	0	0	0	9150	1175	41	3		3	MAP1A	15	43523169	Missense_Mutation	SNP	G	C3N-00294_TP	2070171	43523169	58468020	953	14455											
FRMD5	0	.	GRCh38	chr15	43873913	43873913	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatgagcaggctcaccactGagcggattttgcaggcaaac	12	7	11	11	1	1	2	1	2	0	0	1	3	1	3	1	3	4	4	1	3	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1685C>G	p.Ser562Ter	p.S562*	ENST00000417257	14/14	97	78	19	98	98	0	strelka-varscan-mutect	FRMD5,stop_gained,p.Ser328Ter,ENST00000618556,NM_001286491.1;FRMD5,stop_gained,p.Ser562Ter,ENST00000417257,NM_032892.4;FRMD5,stop_gained,p.Ser241Ter,ENST00000636859,;FRMD5,synonymous_variant,p.=,ENST00000484674,NM_001286490.1;FRMD5,synonymous_variant,p.=,ENST00000449926,;FRMD5,intron_variant,,ENST00000402883,;FRMD5,intron_variant,,ENST00000558108,;FRMD5,3_prime_UTR_variant,,ENST00000421674,;FRMD5,3_prime_UTR_variant,,ENST00000458630,;FRMD5,3_prime_UTR_variant,,ENST00000451277,;FRMD5,downstream_gene_variant,,ENST00000473965,;PIN4P1,downstream_gene_variant,,ENST00000451079,;	C	ENST00000417257	Transcript	stop_gained	1862/5011	1685/1713	562/570	S/*	tCa/tGa		1		-1	FRMD5	HGNC	HGNC:28214	protein_coding	YES	CCDS10107.2	ENSP00000403067	Q7Z6J6		UPI00001A9475	NM_032892.4			14/14		hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF5																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	46	43873913	43873913	G	C	1	0	0	0	0	0	1	0	0	5923	1294	45	4		4	FRMD5	15	43873913	Nonsense_Mutation	SNP	G	C3N-00294_TP	350744	43873913	58117276	954	14456											
SLC24A5	0	.	GRCh38	chr15	48134281	48134281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggattgtctcaggatgttGcaggcacaactttcatggca	9	13	11	8	0	2	0	2	0	1	0	3	2	2	2	0	4	2	4	0	4	1	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.325G>A	p.Ala109Thr	p.A109T	ENST00000341459	3/9	228	175	53	186	186	0	strelka-varscan-mutect	SLC24A5,missense_variant,p.Ala109Thr,ENST00000341459,NM_205850.2;SLC24A5,missense_variant,p.Ala49Thr,ENST00000449382,;MYEF2,downstream_gene_variant,,ENST00000324324,NM_016132.4;SLC24A5,non_coding_transcript_exon_variant,,ENST00000463289,;	A	ENST00000341459	Transcript	missense_variant	398/1897	325/1503	109/500	A/T	Gca/Aca		1		1	SLC24A5	HGNC	HGNC:20611	protein_coding	YES	CCDS10128.1	ENSP00000341550	Q71RS6		UPI0000242BC9	NM_205850.2	deleterious(0)		3/9		hmmpanther:PTHR10846:SF27,hmmpanther:PTHR10846,TIGRFAM_domain:TIGR00367,Pfam_domain:PF01699																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	48134281	48134281	G	A	1	0	0	0	0	1	0	0	0	14735	1319	46	3		3	SLC24A5	15	48134281	Missense_Mutation	SNP	G	C3N-00294_TP	4260368	48134281	53856908	955	14457											
HDC	0	.	GRCh38	chr15	50258465	50258465	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctagcagggagggccaaGaggtgagggctgggtagtag	9	6	19	7	0	0	2	0	1	0	1	1	3	1	3	2	5	1	4	2	5	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.257C>G	p.Ser86Cys	p.S86C	ENST00000267845	3/12	382	295	87	365	365	0	strelka-varscan-mutect	HDC,missense_variant,p.Ser86Cys,ENST00000267845,NM_002112.3;HDC,missense_variant,p.Ser86Cys,ENST00000543581,NM_001306146.1;HDC,missense_variant,p.Ser80Cys,ENST00000559683,;HDC,non_coding_transcript_exon_variant,,ENST00000558679,;HDC,non_coding_transcript_exon_variant,,ENST00000559190,;HDC,intron_variant,,ENST00000558761,;	C	ENST00000267845	Transcript	missense_variant	660/2705	257/1989	86/662	S/C	tCt/tGt		1		-1	HDC	HGNC	HGNC:4855	protein_coding	YES	CCDS10134.1	ENSP00000267845	P19113		UPI0000128FB4	NM_002112.3	deleterious(0.01)		3/12		Gene3D:3.40.640.10,Pfam_domain:PF00282,Prints_domain:PR00800,hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF68,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	50258465	50258465	G	C	1	0	0	0	0	1	0	0	0	6902	942	33	4		4	HDC	15	50258465	Missense_Mutation	SNP	G	C3N-00294_TP	2124184	50258465	51732724	956	14458											
DMXL2	0	.	GRCh38	chr15	51481087	51481088	+	Frame_Shift_Ins	INS	-	-	T																															ttctgatctgattgtttatcINStttttccctggcatctgtac																								novel		C3N-00294_TP	C3N-00294_NB	-	-																c.6018dupA	p.Asp2007ArgfsTer2	p.D2007Rfs*2	ENST00000543779	24/43	51	40	11	84	84	0	sindel-varindel-pindel	DMXL2,frameshift_variant,p.Asp2007ArgfsTer2,ENST00000251076,NM_015263.3;DMXL2,frameshift_variant,p.Asp2007ArgfsTer2,ENST00000543779,NM_001174116.1;DMXL2,frameshift_variant,p.Asp1371ArgfsTer2,ENST00000449909,NM_001174117.1;DMXL2,frameshift_variant,p.Asp132ArgfsTer2,ENST00000560891,;RP11-707P17.1,intron_variant,,ENST00000561007,;	T	ENST00000543779	Transcript	frameshift_variant	6108-6109/10400	6018-6019/9114	2006-2007/3037	-/X	-/A		1		-1	DMXL2	HGNC	HGNC:2938	protein_coding	YES	CCDS53946.1	ENSP00000441858	Q8TDJ6		UPI00001FE4C2	NM_001174116.1			24/43		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF11																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	46	51481087	51481087	-	T	1	0	1	1	0	0	0	0	0	4404	913	32	0		0	DMXL2	15	51481087	Frame_Shift_Ins	INS	-	C3N-00294_TP	1222622	51481087	50510102	957	14459											
GNB5	0	.	GRCh38	chr15	52179856	52179856	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgacgccagcgtctcgttCtcgtgcagcccctcggttgc	4	9	12	16	6	2	0	0	0	2	0	5	1	2	0	3	1	5	3	3	1	0	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.150G>A	p.=	p.E50E	ENST00000261837	3/13	303	234	69	290	290	0	strelka-varscan-mutect	GNB5,synonymous_variant,p.=,ENST00000261837,NM_016194.3;GNB5,synonymous_variant,p.=,ENST00000396335,;GNB5,synonymous_variant,p.=,ENST00000358784,NM_006578.3;GNB5,synonymous_variant,p.=,ENST00000560116,;RP11-430B1.2,upstream_gene_variant,,ENST00000560518,;RP11-430B1.2,upstream_gene_variant,,ENST00000559779,;GNB5,synonymous_variant,p.=,ENST00000561313,;GNB5,non_coding_transcript_exon_variant,,ENST00000560075,;	T	ENST00000261837	Transcript	synonymous_variant	216/8906	150/1188	50/395	E	gaG/gaA		1		-1	GNB5	HGNC	HGNC:4401	protein_coding	YES	CCDS10149.1	ENSP00000261837	O14775	A0A024R5V3	UPI000006E214	NM_016194.3			3/13		PIRSF_domain:PIRSF002394,hmmpanther:PTHR19850,hmmpanther:PTHR19850:SF36																	LOW		SNV	5			1										PASS		rs991564773	.												T	2	4	46	52179856	52179856	C	T	1	0	0	0	0	0	0	0	1	6400	912	32	3		3	GNB5	15	52179856	Silent	SNP	C	C3N-00294_TP	698769	52179856	49811333	958	14460											
MYO5C	0	.	GRCh38	chr15	52242071	52242071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgatacctcctccttgccaGgaatcctcggctgtaggcct	6	11	9	15	2	0	0	0	0	0	0	5	2	3	1	6	3	2	2	6	3	3	3	rs774686743		C3N-00294_TP	C3N-00294_NB	G	G																c.2533C>T	p.=	p.L845L	ENST00000261839	20/41	60	47	13	71	71	0	strelka-varscan-mutect	MYO5C,synonymous_variant,p.=,ENST00000261839,NM_018728.3;MYO5C,non_coding_transcript_exon_variant,,ENST00000559434,;MYO5C,intron_variant,,ENST00000560809,;MYO5C,intron_variant,,ENST00000558902,;	A	ENST00000261839	Transcript	synonymous_variant	2695/6971	2533/5229	845/1742	L	Ctg/Ttg	rs774686743,COSM3969152	1		-1	MYO5C	HGNC	HGNC:7604	protein_coding	YES	CCDS42036.1	ENSP00000261839	Q9NQX4		UPI000013D20E	NM_018728.3			20/41		PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF313,Pfam_domain:PF00612,Gene3D:1wdcA00,SMART_domains:SM00015,Superfamily_domains:SSF52540											0,1						LOW	1	SNV	1		0,1	1										PASS		rs774686743	.												A	2	1	46	52242071	52242071	G	A	1	0	0	0	0	0	0	0	1	10081	991	35	3		3	MYO5C	15	52242071	Silent	SNP	G	C3N-00294_TP	62215	52242071	49749118	959	14461											
WDR72	0	.	GRCh38	chr15	53665705	53665705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacagacttcacaagctgtGaatcatcacaacaattaaga	17	9	6	9	0	3	3	3	1	0	2	3	3	3	3	0	0	3	2	0	0	6	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1829C>T	p.Ser610Leu	p.S610L	ENST00000396328	14/20	206	172	34	284	284	0	strelka-varscan-mutect	WDR72,missense_variant,p.Ser610Leu,ENST00000396328,;WDR72,missense_variant,p.Ser607Leu,ENST00000557913,;WDR72,missense_variant,p.Ser610Leu,ENST00000360509,NM_182758.3;WDR72,missense_variant,p.Ser620Leu,ENST00000559418,;WDR72,missense_variant,p.Ser610Leu,ENST00000560036,;WDR72,non_coding_transcript_exon_variant,,ENST00000567575,;	A	ENST00000396328	Transcript	missense_variant	2069/7507	1829/3309	610/1102	S/L	tCa/tTa		1		-1	WDR72	HGNC	HGNC:26790	protein_coding	YES	CCDS10151.1	ENSP00000379619	Q3MJ13		UPI00001D777D		deleterious(0.01)		14/20		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF408																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	53665705	53665705	G	A	1	0	0	0	0	1	0	0	0	17878	1294	45	3		3	WDR72	15	53665705	Missense_Mutation	SNP	G	C3N-00294_TP	1423634	53665705	48325484	960	14462											
UNC13C	0	.	GRCh38	chr15	54235035	54235035	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tattttgtctttcagggctgGaggtggactttatggtattg	6	18	13	4	0	2	0	1	0	1	0	2	2	2	2	0	5	0	2	0	5	3	8			C3N-00294_TP	C3N-00294_NB	G	G																c.3077G>C	p.Gly1026Ala	p.G1026A	ENST00000260323	4/32	182	127	55	217	217	0	strelka-varscan-mutect	UNC13C,missense_variant,p.Gly1026Ala,ENST00000260323,NM_001080534.1;	C	ENST00000260323	Transcript	missense_variant	3077/12946	3077/6645	1026/2214	G/A	gGa/gCa	COSM5193442,COSM5193443,COSM5193444	1		1	UNC13C	HGNC	HGNC:23149	protein_coding	YES	CCDS45264.1	ENSP00000260323	Q8NB66		UPI0000DD82AB	NM_001080534.1	tolerated_low_confidence(0.35)		4/32		hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												C	3	2	46	54235035	54235035	G	C	1	0	0	0	0	1	0	0	0	17510	1188	41	4		4	UNC13C	15	54235035	Missense_Mutation	SNP	G	C3N-00294_TP	569330	54235035	47756154	961	14463											
ADAM10	0	.	GRCh38	chr15	58611984	58611984	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgtacaacaaggaccttGacttggactagaggaaacat	14	9	10	8	0	0	2	0	1	0	1	0	5	0	5	1	3	4	2	1	3	5	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1519C>G	p.Gln507Glu	p.Q507E	ENST00000260408	12/16	252	191	61	289	289	0	strelka-varscan-mutect	ADAM10,missense_variant,p.Gln507Glu,ENST00000260408,NM_001110.3;ADAM10,intron_variant,,ENST00000402627,;ADAM10,intron_variant,,ENST00000561288,;ADAM10,non_coding_transcript_exon_variant,,ENST00000475898,;ADAM10,3_prime_UTR_variant,,ENST00000396136,;ADAM10,non_coding_transcript_exon_variant,,ENST00000482945,;ADAM10,non_coding_transcript_exon_variant,,ENST00000470269,;ADAM10,non_coding_transcript_exon_variant,,ENST00000481164,;ADAM10,non_coding_transcript_exon_variant,,ENST00000462061,;	C	ENST00000260408	Transcript	missense_variant	1963/11431	1519/2247	507/748	Q/E	Caa/Gaa		1		-1	ADAM10	HGNC	HGNC:188	protein_coding	YES	CCDS10167.1	ENSP00000260408	O14672	A0A024R5U5	UPI00001254C8	NM_001110.3	tolerated(0.15)		12/16		PROSITE_profiles:PS50214,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF4,Gene3D:4.10.70.10,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	58611984	58611984	G	C	1	0	0	0	0	1	0	0	0	278	1299	45	4		4	ADAM10	15	58611984	Missense_Mutation	SNP	G	C3N-00294_TP	4376949	58611984	43379205	962	14464											
IGDCC4	0	.	GRCh38	chr15	65396163	65396163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgagtgatggcgggagccGctaggggcgcgaggggcgac	6	4	21	10	5	0	2	0	2	0	0	0	5	0	3	2	6	1	1	2	6	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.998C>T	p.Ala333Val	p.A333V	ENST00000352385	7/20	81	65	16	54	54	0	strelka-mutect	IGDCC4,missense_variant,p.Ala333Val,ENST00000352385,NM_020962.2;IGDCC4,non_coding_transcript_exon_variant,,ENST00000559327,;	A	ENST00000352385	Transcript	missense_variant,splice_region_variant	1208/6508	998/3753	333/1250	A/V	gCg/gTg		1		-1	IGDCC4	HGNC	HGNC:13770	protein_coding	YES	CCDS10206.1	ENSP00000319623	Q8TDY8		UPI000006F31C	NM_020962.2	tolerated(0.14)		7/20		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF40,Low_complexity_(Seg):seg,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1418145320	.												A	3	1	46	65396163	65396163	G	A	1	0	0	0	0	1	0	0	0	7475	1101	38	1		1	IGDCC4	15	65396163	Missense_Mutation	SNP	G	C3N-00294_TP	6784179	65396163	36595026	963	14465											
DPP8	0	.	GRCh38	chr15	65452064	65452064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgtgtatcctgtatcataGaagatccacagagtgactgg	11	11	10	9	1	1	4	1	1	0	3	4	4	4	4	3	1	0	2	3	1	4	3	rs776812617		C3N-00294_TP	C3N-00294_NB	G	G																c.2358C>G	p.Phe786Leu	p.F786L	ENST00000341861	18/20	130	103	27	115	115	0	strelka-varscan-mutect	DPP8,missense_variant,p.Phe786Leu,ENST00000341861,NM_197960.2;DPP8,missense_variant,p.Phe770Leu,ENST00000300141,NM_130434.3;DPP8,missense_variant,p.Phe735Leu,ENST00000321147,NM_197961.2;DPP8,missense_variant,p.Phe786Leu,ENST00000559233,;DPP8,missense_variant,p.Phe670Leu,ENST00000358939,NM_017743.4;DPP8,missense_variant,p.Phe199Leu,ENST00000558786,;DPP8,missense_variant,p.Phe355Leu,ENST00000558559,;DPP8,non_coding_transcript_exon_variant,,ENST00000560048,;DPP8,downstream_gene_variant,,ENST00000558363,;DPP8,3_prime_UTR_variant,,ENST00000395652,;DPP8,downstream_gene_variant,,ENST00000560597,;	C	ENST00000341861	Transcript	missense_variant	3939/8699	2358/2697	786/898	F/L	ttC/ttG	rs776812617	1		-1	DPP8	HGNC	HGNC:16490	protein_coding	YES	CCDS10207.1	ENSP00000339208	Q6V1X1	A0A024R5Z6	UPI00001BFAFE	NM_197960.2	tolerated(0.69)		18/20		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF98,Pfam_domain:PF00326,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		rs776812617	.												C	3	2	46	65452064	65452064	G	C	1	0	0	0	0	1	0	0	0	4547	933	33	4		4	DPP8	15	65452064	Missense_Mutation	SNP	G	C3N-00294_TP	55901	65452064	36539125	964	14466											
DPP8	0	.	GRCh38	chr15	65507254	65507254	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taatcctacctgaaaaagatCcaaaagaggcttccaagaga	18	7	7	9	0	0	4	0	1	0	3	3	5	3	4	4	1	1	1	4	1	7	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.409G>T	p.Asp137Tyr	p.D137Y	ENST00000341861	3/20	72	63	9	106	105	1	strelka-varscan-mutect	DPP8,missense_variant,p.Asp137Tyr,ENST00000341861,NM_197960.2;DPP8,missense_variant,p.Asp121Tyr,ENST00000300141,NM_130434.3;DPP8,missense_variant,p.Asp137Tyr,ENST00000321147,NM_197961.2;DPP8,missense_variant,p.Asp137Tyr,ENST00000559233,;DPP8,missense_variant,p.Asp121Tyr,ENST00000358939,NM_017743.4;DPP8,missense_variant,p.Asp131Tyr,ENST00000558529,;DPP8,missense_variant,p.Asp121Tyr,ENST00000559526,;DPP8,downstream_gene_variant,,ENST00000560436,;Y_RNA,downstream_gene_variant,,ENST00000516408,;DPP8,downstream_gene_variant,,ENST00000560194,;DPP8,missense_variant,p.Asp137Tyr,ENST00000395652,;	A	ENST00000341861	Transcript	missense_variant	1990/8699	409/2697	137/898	D/Y	Gat/Tat		1		-1	DPP8	HGNC	HGNC:16490	protein_coding	YES	CCDS10207.1	ENSP00000339208	Q6V1X1	A0A024R5Z6	UPI00001BFAFE	NM_197960.2	deleterious(0.01)		3/20		hmmpanther:PTHR11731:SF98,hmmpanther:PTHR11731,Superfamily_domains:SSF82171																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	65507254	65507254	C	A	1	0	0	0	0	1	0	0	0	4547	855	30	2		2	DPP8	15	65507254	Missense_Mutation	SNP	C	C3N-00294_TP	55190	65507254	36483935	965	14467											
ITGA11	0	.	GRCh38	chr15	68303060	68303060	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagtctcctctggagcctCactccagcactttgggggtg	7	10	11	13	0	3	0	1	0	2	0	5	1	4	1	3	3	2	1	3	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3566G>A	p.=	p.*1189*	ENST00000315757	30/30	143	116	27	160	160	0	strelka-varscan-mutect	ITGA11,stop_retained_variant,p.=,ENST00000423218,;ITGA11,stop_retained_variant,p.=,ENST00000315757,NM_001004439.1;	T	ENST00000315757	Transcript	stop_retained_variant	3662/3955	3566/3567	1189/1188	*	tGa/tAa		1		-1	ITGA11	HGNC	HGNC:6136	protein_coding	YES	CCDS45291.1	ENSP00000327290	Q9UKX5		UPI00001FE74D	NM_001004439.1			30/30																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	68303060	68303060	C	T	1	0	0	0	0	0	0	0	1	7781	837	29	3		3	ITGA11	15	68303060	Silent	SNP	C	C3N-00294_TP	2795806	68303060	33688129	966	14468											
C15orf39	0	.	GRCh38	chr15	75208287	75208287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atccagctccagctccagctCcagttgcaggccctgctcca	7	8	8	18	0	0	0	0	0	0	0	5	0	5	0	6	1	5	6	6	1	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2239C>G	p.Pro747Ala	p.P747A	ENST00000360639	2/3	309	239	70	276	276	0	strelka-varscan-mutect	C15orf39,missense_variant,p.Pro747Ala,ENST00000360639,;C15orf39,missense_variant,p.Pro747Ala,ENST00000394987,NM_015492.4;C15orf39,missense_variant,p.Pro747Ala,ENST00000567617,;C15orf39,missense_variant,p.Pro616Ala,ENST00000565074,;C15orf39,downstream_gene_variant,,ENST00000563905,;C15orf39,downstream_gene_variant,,ENST00000562637,;C15orf39,downstream_gene_variant,,ENST00000564848,;RP11-69H7.3,downstream_gene_variant,,ENST00000563568,;	G	ENST00000360639	Transcript	missense_variant	2559/4517	2239/3144	747/1047	P/A	Cca/Gca		1		1	C15orf39	HGNC	HGNC:24497	protein_coding	YES	CCDS10276.1	ENSP00000353854	Q6ZRI6		UPI000004F079		tolerated(0.22)		2/3		hmmpanther:PTHR28422,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		rs1364949276	.												G	3	3	46	75208287	75208287	C	G	1	0	0	0	0	1	0	0	0	1843	855	30	4		4	C15orf39	15	75208287	Missense_Mutation	SNP	C	C3N-00294_TP	6905227	75208287	26782902	967	14469											
C15orf39	0	.	GRCh38	chr15	75208509	75208509	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctggccaagctgctgtctCagctgcagcgcttcgatcgc	5	10	12	14	3	1	0	1	0	1	0	4	1	1	0	1	1	6	6	1	1	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2461C>G	p.Gln821Glu	p.Q821E	ENST00000360639	2/3	206	167	39	229	229	0	strelka-varscan-mutect	C15orf39,missense_variant,p.Gln821Glu,ENST00000360639,;C15orf39,missense_variant,p.Gln821Glu,ENST00000394987,NM_015492.4;C15orf39,missense_variant,p.Gln821Glu,ENST00000567617,;C15orf39,missense_variant,p.Gln690Glu,ENST00000565074,;C15orf39,downstream_gene_variant,,ENST00000563905,;C15orf39,downstream_gene_variant,,ENST00000562637,;C15orf39,downstream_gene_variant,,ENST00000564848,;RP11-69H7.3,downstream_gene_variant,,ENST00000563568,;	G	ENST00000360639	Transcript	missense_variant	2781/4517	2461/3144	821/1047	Q/E	Cag/Gag		1		1	C15orf39	HGNC	HGNC:24497	protein_coding	YES	CCDS10276.1	ENSP00000353854	Q6ZRI6		UPI000004F079		deleterious(0)		2/3		hmmpanther:PTHR28422																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	46	75208509	75208509	C	G	1	0	0	0	0	1	0	0	0	1843	827	29	4		4	C15orf39	15	75208509	Missense_Mutation	SNP	C	C3N-00294_TP	222	75208509	26782680	968	14470											
MAN2C1	0	.	GRCh38	chr15	75362665	75362665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagcaggcaaagatgaactCagggttccgctccatgagct	11	7	13	10	1	1	3	1	2	0	1	3	4	3	4	2	3	3	5	2	3	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.874G>A	p.Glu292Lys	p.E292K	ENST00000565683	7/26	162	117	45	190	190	0	strelka-varscan-mutect	MAN2C1,missense_variant,p.Glu292Lys,ENST00000565683,NM_001256494.1;MAN2C1,missense_variant,p.Glu292Lys,ENST00000267978,NM_006715.3;MAN2C1,missense_variant,p.Glu292Lys,ENST00000569482,NM_001256495.1;MAN2C1,intron_variant,,ENST00000563622,NM_001256496.1;MAN2C1,upstream_gene_variant,,ENST00000618257,;MAN2C1,downstream_gene_variant,,ENST00000566256,;MAN2C1,downstream_gene_variant,,ENST00000568374,;MAN2C1,downstream_gene_variant,,ENST00000561615,;MAN2C1,downstream_gene_variant,,ENST00000563539,;MAN2C1,upstream_gene_variant,,ENST00000566253,;MAN2C1,3_prime_UTR_variant,,ENST00000566634,;MAN2C1,3_prime_UTR_variant,,ENST00000421803,;MAN2C1,3_prime_UTR_variant,,ENST00000570257,;MAN2C1,3_prime_UTR_variant,,ENST00000565784,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000564785,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563441,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000565801,;MAN2C1,upstream_gene_variant,,ENST00000567163,;MAN2C1,upstream_gene_variant,,ENST00000566099,;MAN2C1,downstream_gene_variant,,ENST00000565534,;MAN2C1,upstream_gene_variant,,ENST00000569176,;MAN2C1,downstream_gene_variant,,ENST00000569355,;MAN2C1,upstream_gene_variant,,ENST00000563013,;MAN2C1,upstream_gene_variant,,ENST00000563794,;MAN2C1,upstream_gene_variant,,ENST00000564570,;MAN2C1,upstream_gene_variant,,ENST00000566013,;MAN2C1,upstream_gene_variant,,ENST00000563368,;MAN2C1,upstream_gene_variant,,ENST00000562228,;MAN2C1,downstream_gene_variant,,ENST00000565652,;MAN2C1,upstream_gene_variant,,ENST00000563596,;MAN2C1,downstream_gene_variant,,ENST00000562071,;MAN2C1,upstream_gene_variant,,ENST00000563058,;MAN2C1,upstream_gene_variant,,ENST00000562461,;MAN2C1,upstream_gene_variant,,ENST00000568944,;MAN2C1,downstream_gene_variant,,ENST00000569069,;MAN2C1,upstream_gene_variant,,ENST00000565953,;MAN2C1,downstream_gene_variant,,ENST00000565699,;MAN2C1,upstream_gene_variant,,ENST00000567360,;	T	ENST00000565683	Transcript	missense_variant	886/3300	874/3174	292/1057	E/K	Gag/Aag		1		-1	MAN2C1	HGNC	HGNC:6827	protein_coding	YES	CCDS58391.1	ENSP00000457788	Q9NTJ4		UPI0000229CBC	NM_001256494.1	tolerated(0.07)		7/26		hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF15,Pfam_domain:PF01074,Gene3D:3.20.110.10,Superfamily_domains:SSF88713																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	75362665	75362665	C	T	1	0	0	0	0	1	0	0	0	9139	835	29	3		3	MAN2C1	15	75362665	Missense_Mutation	SNP	C	C3N-00294_TP	154156	75362665	26628524	969	14471											
LINGO1	0	.	GRCh38	chr15	77615667	77615667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagcgttttgatgcggttCttgcctaggtccagcaggcg	5	13	14	9	3	1	2	0	2	1	0	2	2	2	2	2	3	4	3	2	3	1	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.240G>A	p.=	p.K80K	ENST00000355300	2/2	71	59	12	80	80	0	strelka-varscan-mutect	LINGO1,synonymous_variant,p.=,ENST00000355300,NM_032808.6;LINGO1,synonymous_variant,p.=,ENST00000561030,NM_001301199.1,NM_001301194.1,NM_001301191.1,NM_001301197.1,NM_001301200.1,NM_001301187.1,NM_001301189.1,NM_001301186.1,NM_001301195.1,NM_001301198.1,NM_001301192.1;LINGO1,synonymous_variant,p.=,ENST00000557798,;LINGO1,synonymous_variant,p.=,ENST00000561686,;LINGO1,synonymous_variant,p.=,ENST00000567726,;LINGO1,downstream_gene_variant,,ENST00000566711,;LINGO1,downstream_gene_variant,,ENST00000570216,;LINGO1,downstream_gene_variant,,ENST00000562933,;LINGO1,downstream_gene_variant,,ENST00000563316,;LINGO1,downstream_gene_variant,,ENST00000559893,;LINGO1,downstream_gene_variant,,ENST00000564472,;	T	ENST00000355300	Transcript	synonymous_variant	415/3055	240/1863	80/620	K	aaG/aaA		1		-1	LINGO1	HGNC	HGNC:21205	protein_coding	YES	CCDS45313.1	ENSP00000347451	Q96FE5		UPI00000377A0	NM_032808.6			2/2		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF31,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	77615667	77615667	C	T	1	0	0	0	0	0	0	0	1	8735	912	32	3		3	LINGO1	15	77615667	Silent	SNP	C	C3N-00294_TP	2253002	77615667	24375522	970	14472											
ARNT2	0	.	GRCh38	chr15	80563177	80563177	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatccgcaccagcagcttCacattccagaatccctattc	10	11	5	15	1	1	2	1	1	0	1	5	2	4	2	4	0	2	3	4	0	2	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1254C>T	p.=	p.F418F	ENST00000303329	12/19	296	249	47	339	339	0	strelka-varscan-mutect	ARNT2,synonymous_variant,p.=,ENST00000533983,;ARNT2,synonymous_variant,p.=,ENST00000303329,NM_014862.3;ARNT2,synonymous_variant,p.=,ENST00000622346,;ARNT2,synonymous_variant,p.=,ENST00000527771,;RP11-379K22.2,upstream_gene_variant,,ENST00000558208,;ARNT2,non_coding_transcript_exon_variant,,ENST00000558849,;	T	ENST00000303329	Transcript	synonymous_variant	1419/6558	1254/2154	418/717	F	ttC/ttT		1		1	ARNT2	HGNC	HGNC:16876	protein_coding	YES	CCDS32307.1	ENSP00000307479	Q9HBZ2	X5DQN9	UPI00001FEA05	NM_014862.3			12/19		Gene3D:3.30.450.20,Pfam_domain:PF08447,hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF6,SMART_domains:SM00086,Superfamily_domains:SSF55785,TIGRFAM_domain:TIGR00229																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	80563177	80563177	C	T	1	0	0	0	0	0	0	0	1	1108	825	29	3		3	ARNT2	15	80563177	Silent	SNP	C	C3N-00294_TP	2947510	80563177	21428012	971	14473											
AGBL1	0	.	GRCh38	chr15	86554379	86554379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactcttcccaaaatccttGataagctagcaccagcattc	13	10	5	13	0	1	2	0	1	1	1	4	2	3	2	3	0	3	3	3	0	4	5			C3N-00294_TP	C3N-00294_NB	G	G																c.2836G>A	p.Asp946Asn	p.D946N	ENST00000441037	21/25	147	120	27	132	132	0	strelka-varscan-mutect	AGBL1,missense_variant,p.Asp946Asn,ENST00000441037,;AGBL1,missense_variant,p.Asp900Asn,ENST00000635782,NM_152336.2;AGBL1,missense_variant,p.Asp900Asn,ENST00000421325,;AGBL1,intron_variant,,ENST00000614907,;	A	ENST00000441037	Transcript	missense_variant	2836/3551	2836/3339	946/1112	D/N	Gat/Aat	COSM5583260,COSM5583261,COSM5583262	1		1	AGBL1	Clone_based_vega_gene	HGNC:26504	protein_coding	YES		ENSP00000413001	Q96MI9		UPI000387C1D9		tolerated(0.11)		21/25		Pfam_domain:PF00246,hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF5,Superfamily_domains:SSF53187											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												A	3	1	46	86554379	86554379	G	A	1	0	0	0	0	1	0	0	0	451	1290	45	3		3	AGBL1	15	86554379	Missense_Mutation	SNP	G	C3N-00294_TP	5991202	86554379	15436810	972	14474											
MRPS11	0	.	GRCh38	chr15	88475215	88475215	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcacaggcatcgcagcacaGacagcaggcatagccgcagc	12	2	13	14	2	0	1	0	0	0	1	1	1	0	1	1	3	4	7	1	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.387G>A	p.=	p.Q129Q	ENST00000325844	4/6	206	163	43	231	231	0	strelka-varscan-mutect	MRPS11,synonymous_variant,p.=,ENST00000325844,NM_001321970.1,NM_022839.3;MRPS11,synonymous_variant,p.=,ENST00000353598,NM_176805.2;MRPS11,non_coding_transcript_exon_variant,,ENST00000557974,;RP11-97O12.7,intron_variant,,ENST00000561140,;RP11-97O12.5,downstream_gene_variant,,ENST00000623274,;MRPS11,missense_variant,p.Asp109Asn,ENST00000560708,;MRPS11,non_coding_transcript_exon_variant,,ENST00000559323,;MRPS11,non_coding_transcript_exon_variant,,ENST00000558406,;MRPS11,non_coding_transcript_exon_variant,,ENST00000558548,;MRPS11,upstream_gene_variant,,ENST00000561262,;MRPS11,downstream_gene_variant,,ENST00000560850,;MRPS11,downstream_gene_variant,,ENST00000559557,;	A	ENST00000325844	Transcript	synonymous_variant	652/3644	387/585	129/194	Q	caG/caA		1		1	MRPS11	HGNC	HGNC:14050	protein_coding	YES	CCDS10342.1	ENSP00000317376	P82912		UPI0000035FC4	NM_001321970.1,NM_022839.3			4/6		Gene3D:3.30.420.80,HAMAP:MF_01310,Pfam_domain:PF00411,hmmpanther:PTHR11759,hmmpanther:PTHR11759:SF3,Low_complexity_(Seg):seg,Superfamily_domains:SSF53137																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	88475215	88475215	G	A	1	0	0	0	0	0	0	0	1	9799	933	33	3		3	MRPS11	15	88475215	Silent	SNP	G	C3N-00294_TP	1920836	88475215	13515974	973	14475											
IQGAP1	0	.	GRCh38	chr15	90449599	90449599	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagaaggaggagctgcagtCtggagtggatgctgcaaaca	12	6	16	7	0	1	1	0	0	1	1	1	5	1	5	0	4	5	5	0	4	2	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1118C>G	p.Ser373Cys	p.S373C	ENST00000268182	11/38	146	111	35	182	182	0	strelka-varscan-mutect	IQGAP1,missense_variant,p.Ser373Cys,ENST00000268182,NM_003870.3;IQGAP1,intron_variant,,ENST00000560738,;IQGAP1,missense_variant,p.Ser373Cys,ENST00000633485,;	G	ENST00000268182	Transcript	missense_variant	1242/7233	1118/4974	373/1657	S/C	tCt/tGt		1		1	IQGAP1	HGNC	HGNC:6110	protein_coding	YES	CCDS10362.1	ENSP00000268182	P46940	A0A024RC65	UPI000012D863	NM_003870.3	deleterious(0.03)		11/38		hmmpanther:PTHR14149:SF15,hmmpanther:PTHR14149,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	90449599	90449599	C	G	1	0	0	0	0	1	0	0	0	7720	913	32	4		4	IQGAP1	15	90449599	Missense_Mutation	SNP	C	C3N-00294_TP	1974384	90449599	11541590	974	14476											
MAN2A2	0	.	GRCh38	chr15	90907493	90907493	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagaggccaacgtggcagaGaggtatctgcttccagccct	10	7	12	12	1	1	2	0	0	1	2	2	3	2	2	3	3	3	3	3	3	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1194G>C	p.Glu398Asp	p.E398D	ENST00000559717	8/23	83	63	20	89	89	0	strelka-varscan-mutect	MAN2A2,missense_variant,p.Glu398Asp,ENST00000559717,;MAN2A2,missense_variant,p.Glu398Asp,ENST00000360468,NM_006122.2;MAN2A2,missense_variant,p.Glu83Asp,ENST00000557865,;MAN2A2,missense_variant,p.Arg36Thr,ENST00000560616,;MAN2A2,downstream_gene_variant,,ENST00000558290,;MAN2A2,upstream_gene_variant,,ENST00000558171,;MAN2A2,downstream_gene_variant,,ENST00000558853,;MAN2A2,downstream_gene_variant,,ENST00000559132,;MAN2A2,downstream_gene_variant,,ENST00000559965,;MAN2A2,downstream_gene_variant,,ENST00000559999,;MAN2A2,downstream_gene_variant,,ENST00000558640,;MAN2A2,upstream_gene_variant,,ENST00000561240,;MAN2A2,downstream_gene_variant,,ENST00000560534,;MAN2A2,missense_variant,p.Glu398Asp,ENST00000560451,;MAN2A2,missense_variant,p.Glu398Asp,ENST00000558161,;MAN2A2,splice_region_variant,,ENST00000560192,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000561046,;MAN2A2,upstream_gene_variant,,ENST00000561448,;MAN2A2,upstream_gene_variant,,ENST00000561047,;MAN2A2,upstream_gene_variant,,ENST00000559374,;MAN2A2,upstream_gene_variant,,ENST00000560505,;	C	ENST00000559717	Transcript	missense_variant,splice_region_variant	1653/6704	1194/3453	398/1150	E/D	gaG/gaC		1		1	MAN2A2	HGNC	HGNC:6825	protein_coding	YES	CCDS32332.1	ENSP00000452948	P49641		UPI0000408EF0		tolerated(0.12)		8/23		Gene3D:3.20.110.10,Pfam_domain:PF01074,hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF27,Superfamily_domains:SSF88713																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	46	90907493	90907493	G	C	1	0	0	0	0	1	0	0	0	9136	956	33	4		4	MAN2A2	15	90907493	Missense_Mutation	SNP	G	C3N-00294_TP	457894	90907493	11083696	975	14477											
LRRK1	0	.	GRCh38	chr15	101022549	101022549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcatggagaggccaccatCaggaccaccaagtgggagct	11	5	14	11	0	1	1	1	0	0	1	1	4	1	3	4	4	2	2	4	4	1	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2019C>T	p.=	p.I673I	ENST00000388948	15/34	126	95	31	151	151	0	strelka-mutect	LRRK1,synonymous_variant,p.=,ENST00000388948,NM_024652.4;LRRK1,synonymous_variant,p.=,ENST00000525284,;LRRK1,non_coding_transcript_exon_variant,,ENST00000525617,;LRRK1,non_coding_transcript_exon_variant,,ENST00000538064,;LRRK1,intron_variant,,ENST00000531270,;	T	ENST00000388948	Transcript	synonymous_variant	2378/7671	2019/6048	673/2015	I	atC/atT		1		1	LRRK1	HGNC	HGNC:18608	protein_coding	YES	CCDS42086.1	ENSP00000373600	Q38SD2		UPI0000D4FE63	NM_024652.4			15/34		Gene3D:2zejA01,Pfam_domain:PF08477,PROSITE_profiles:PS51424,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	46	101022549	101022549	C	T	1	0	0	0	0	0	0	0	1	8938	816	29	3		3	LRRK1	15	101022549	Silent	SNP	C	C3N-00294_TP	10115056	101022549	968640	976	14478											
CHTF18	0	.	GRCh38	chr16	788766	788766	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgagctggaggtgctggcaGagctggaaggtggggcgcgg	6	5	22	8	3	0	1	0	0	0	1	0	4	0	3	1	8	3	4	1	8	1	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.82G>C	p.Glu28Gln	p.E28Q	ENST00000262315	1/22	206	177	29	196	196	0	strelka-varscan-mutect	CHTF18,missense_variant,p.Glu225Gln,ENST00000631357,;CHTF18,missense_variant,p.Glu28Gln,ENST00000455171,;CHTF18,missense_variant,p.Glu28Gln,ENST00000262315,NM_022092.2;CHTF18,missense_variant,p.Glu28Gln,ENST00000317063,;RPUSD1,upstream_gene_variant,,ENST00000561734,;RPUSD1,upstream_gene_variant,,ENST00000007264,NM_001324415.1,NM_001324086.1,NM_058192.2;RPUSD1,upstream_gene_variant,,ENST00000565809,NM_001324411.1;RPUSD1,upstream_gene_variant,,ENST00000567114,NM_001324412.1;RPUSD1,upstream_gene_variant,,ENST00000562070,;RPUSD1,upstream_gene_variant,,ENST00000565377,;RPUSD1,upstream_gene_variant,,ENST00000569601,;CHTF18,upstream_gene_variant,,ENST00000426047,;RPUSD1,upstream_gene_variant,,ENST00000563560,;CHTF18,non_coding_transcript_exon_variant,,ENST00000570058,;CHTF18,upstream_gene_variant,,ENST00000491530,;CHTF18,upstream_gene_variant,,ENST00000461268,;CHTF18,missense_variant,p.Glu28Gln,ENST00000440239,;CHTF18,non_coding_transcript_exon_variant,,ENST00000471202,;CHTF18,non_coding_transcript_exon_variant,,ENST00000464728,;CHTF18,non_coding_transcript_exon_variant,,ENST00000479976,;CHTF18,intron_variant,,ENST00000563545,;RPUSD1,upstream_gene_variant,,ENST00000567283,;CHTF18,upstream_gene_variant,,ENST00000569270,;CHTF18,upstream_gene_variant,,ENST00000567620,;CHTF18,upstream_gene_variant,,ENST00000565787,;CHTF18,upstream_gene_variant,,ENST00000484349,;RPUSD1,upstream_gene_variant,,ENST00000565503,;	C	ENST00000262315	Transcript	missense_variant	145/3090	82/2928	28/975	E/Q	Gag/Cag		1		1	CHTF18	HGNC	HGNC:18435	protein_coding	YES	CCDS45371.1	ENSP00000262315	Q8WVB6		UPI00000710D2	NM_022092.2	tolerated(0.08)		1/22		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1403583397	.												C	3	2	46	788766	788766	G	C	1	0	0	0	0	1	0	0	0	3174	943	33	4		4	CHTF18	16	788766	Missense_Mutation	SNP	G	C3N-00294_TP		788766	89549579	977	14479											
TPSG1	0	.	GRCh38	chr16	1223534	1223534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatggccatgcgccggccGgggcagcgtgaccccccacg	5	3	15	18	5	0	1	0	1	0	0	0	1	0	1	7	4	2	1	7	4	0	0	rs746784578		C3N-00294_TP	C3N-00294_NB	G	G																c.134C>A	p.Pro45Gln	p.P45Q	ENST00000234798	3/6	235	123	112	177	177	0	strelka-varscan-mutect	TPSG1,missense_variant,p.Pro45Gln,ENST00000234798,NM_012467.3;CACNA1H,downstream_gene_variant,,ENST00000348261,NM_021098.2;CACNA1H,downstream_gene_variant,,ENST00000358590,NM_001005407.1;CACNA1H,downstream_gene_variant,,ENST00000565831,;CACNA1H,downstream_gene_variant,,ENST00000569107,;CACNA1H,downstream_gene_variant,,ENST00000564231,;CACNA1H,downstream_gene_variant,,ENST00000562079,;TPSB2,downstream_gene_variant,,ENST00000612142,;TPSB2,downstream_gene_variant,,ENST00000606293,NM_024164.5;RP11-616M22.12,upstream_gene_variant,,ENST00000621827,;TPSG1,non_coding_transcript_exon_variant,,ENST00000564684,;TPSB2,downstream_gene_variant,,ENST00000611196,;	T	ENST00000234798	Transcript	missense_variant	139/1108	134/966	45/321	P/Q	cCg/cAg	rs746784578	1		-1	TPSG1	HGNC	HGNC:14134	protein_coding	YES	CCDS10430.1	ENSP00000234798	Q9NRR2		UPI000013C9BB	NM_012467.3	tolerated(0.48)		3/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF138,hmmpanther:PTHR24256,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs746784578	.												T	3	4	46	1223534	1223534	G	T	1	0	0	0	0	1	0	0	0	16907	1116	39	1		1	TPSG1	16	1223534	Missense_Mutation	SNP	G	C3N-00294_TP	434768	1223534	89114811	978	14480											
IFT140	0	.	GRCh38	chr16	1586229	1586229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaggaagtctggtactttCctccacatggctactcgccc	7	10	8	16	1	1	0	0	0	1	0	4	1	3	1	4	3	2	2	4	3	3	3	rs750247837		C3N-00294_TP	C3N-00294_NB	C	C																c.1056G>T	p.Arg352Ser	p.R352S	ENST00000426508	10/31	184	148	36	191	191	0	strelka-varscan-mutect	IFT140,missense_variant,p.Arg352Ser,ENST00000426508,NM_014714.3;LA16c-395F10.2,intron_variant,,ENST00000563162,;IFT140,non_coding_transcript_exon_variant,,ENST00000439987,;IFT140,intron_variant,,ENST00000397417,;IFT140,upstream_gene_variant,,ENST00000565298,;	A	ENST00000426508	Transcript	missense_variant	1420/5270	1056/4389	352/1462	R/S	agG/agT	rs750247837	1		-1	IFT140	HGNC	HGNC:29077	protein_coding	YES	CCDS10439.1	ENSP00000406012	Q96RY7		UPI0000073C64	NM_014714.3	tolerated(0.1)		10/31		Gene3D:2.130.10.10,hmmpanther:PTHR15722,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF50978																	MODERATE		SNV	5			1										PASS		rs750247837	.												A	3	1	46	1586229	1586229	C	A	1	0	0	0	0	1	0	0	0	7460	854	30	2		2	IFT140	16	1586229	Missense_Mutation	SNP	C	C3N-00294_TP	362695	1586229	88752116	979	14481											
RBFOX1	0	.	GRCh38	chr16	7518199	7518199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatggctcagccttacgcttCggcccagtttgctcccccgc	5	10	9	17	3	1	0	1	0	0	0	3	0	2	0	4	2	3	4	4	2	2	3	rs527782263		C3N-00294_TP	C3N-00294_NB	C	C																c.209C>T	p.Ser70Leu	p.S70L	ENST00000422070	5/16	118	102	16	123	123	0	strelka-varscan-mutect	RBFOX1,missense_variant,p.Ser27Leu,ENST00000550418,NM_018723.3;RBFOX1,missense_variant,p.Ser32Leu,ENST00000340209,;RBFOX1,missense_variant,p.Ser32Leu,ENST00000620507,;RBFOX1,missense_variant,p.Ser70Leu,ENST00000547372,;RBFOX1,missense_variant,p.Ser47Leu,ENST00000355637,NM_145893.2;RBFOX1,missense_variant,p.Ser47Leu,ENST00000311745,NM_145891.2;RBFOX1,missense_variant,p.Ser27Leu,ENST00000553186,NM_001142333.1;RBFOX1,missense_variant,p.Ser27Leu,ENST00000547605,;RBFOX1,missense_variant,p.Ser70Leu,ENST00000422070,NM_001308117.1;RBFOX1,missense_variant,p.Ser63Leu,ENST00000535565,;RBFOX1,missense_variant,p.Ser47Leu,ENST00000436368,NM_145892.2;RBFOX1,missense_variant,p.Ser27Leu,ENST00000547338,NM_001142334.1;RBFOX1,missense_variant,p.Ser63Leu,ENST00000552089,;RBFOX1,missense_variant,p.Ser27Leu,ENST00000551752,;RBFOX1,missense_variant,p.Ser29Leu,ENST00000570626,;RBFOX1,non_coding_transcript_exon_variant,,ENST00000569889,;	T	ENST00000422070	Transcript	missense_variant	405/1684	209/1278	70/425	S/L	tCg/tTg	rs527782263,COSM1153011,COSM3734329,COSM973771,COSM973772	1		1	RBFOX1	HGNC	HGNC:18222	protein_coding	YES	CCDS76818.1	ENSP00000391269		B7Z1U7	UPI0001914C99	NM_001308117.1	deleterious_low_confidence(0.02)		5/16		hmmpanther:PTHR15597:SF26,hmmpanther:PTHR15597,PIRSF_domain:PIRSF037932											0,1,1,1,1						MODERATE	1	SNV	2		0,1,1,1,1	1										PASS		rs527782263	.												T	3	4	46	7518199	7518199	C	T	1	0	0	0	0	1	0	0	0	13271	893	31	1		1	RBFOX1	16	7518199	Missense_Mutation	SNP	C	C3N-00294_TP	5931970	7518199	82820146	980	14482											
CLEC16A	0	.	GRCh38	chr16	11044040	11044040	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaacagggtgcgagagaaGaaagtgttcaccttgtacga	13	10	12	6	2	1	2	1	0	0	2	1	5	1	2	1	1	3	2	1	1	4	5			C3N-00294_TP	C3N-00294_NB	G	G																c.1783G>C	p.Glu595Gln	p.E595Q	ENST00000409790	16/24	103	89	14	93	93	0	strelka-varscan-mutect	CLEC16A,missense_variant,p.Glu595Gln,ENST00000409790,NM_015226.2;CLEC16A,missense_variant,p.Glu577Gln,ENST00000409552,NM_001243403.1;CLEC16A,non_coding_transcript_exon_variant,,ENST00000465491,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000463459,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000476025,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000463896,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000487189,;	C	ENST00000409790	Transcript	missense_variant	2013/6891	1783/3162	595/1053	E/Q	Gaa/Caa	COSM1301619	1		1	CLEC16A	HGNC	HGNC:29013	protein_coding	YES	CCDS45409.1	ENSP00000387122	Q2KHT3		UPI0000253BAD	NM_015226.2	tolerated(0.32)		16/24		hmmpanther:PTHR21481,hmmpanther:PTHR21481:SF0											1						MODERATE	1	SNV	5		1	1										PASS		.	.												C	3	2	46	11044040	11044040	G	C	1	0	0	0	0	1	0	0	0	3266	943	33	4		4	CLEC16A	16	11044040	Missense_Mutation	SNP	G	C3N-00294_TP	3525841	11044040	79294305	981	14483											
NTAN1	0	.	GRCh38	chr16	15044409	15044409	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaggtgtacttccagccTggcaaagagatgagacgggt	13	7	13	8	1	0	2	0	1	0	2	1	4	1	2	2	3	3	2	2	3	4	2	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.360-2A>T		p.X120_splice	ENST00000287706		196	105	91	192	192	0	strelka-varscan-mutect	NTAN1,splice_acceptor_variant,,ENST00000287706,NM_173474.3;NTAN1,splice_acceptor_variant,,ENST00000624579,NM_001270766.1;NTAN1,splice_acceptor_variant,,ENST00000622833,NM_001270767.1;NTAN1,splice_acceptor_variant,,ENST00000566419,;NTAN1,splice_acceptor_variant,,ENST00000568320,;PDXDC1,intron_variant,,ENST00000535621,NM_001324020.1,NM_001285449.1;NTAN1,splice_acceptor_variant,,ENST00000565187,;NTAN1,splice_acceptor_variant,,ENST00000563940,;NTAN1,non_coding_transcript_exon_variant,,ENST00000566542,;NTAN1,intron_variant,,ENST00000568738,;NTAN1,upstream_gene_variant,,ENST00000570292,;NTAN1,downstream_gene_variant,,ENST00000567030,;NTAN1,downstream_gene_variant,,ENST00000567420,;	A	ENST00000287706	Transcript	splice_acceptor_variant	-/1204	360/933	120/310				1		-1	NTAN1	HGNC	HGNC:29909	protein_coding	YES	CCDS10558.1	ENSP00000287706	Q96AB6		UPI0000071024	NM_173474.3				4/9																		HIGH	1	SNV	1			1										PASS		rs779050805	.												A	5	1	46	15044409	15044409	T	A	1	0	0	0	0	0	0	1	0	10759	1594	55	4		4	NTAN1	16	15044409	Splice_Site	SNP	T	C3N-00294_TP	4000369	15044409	75293936	982	14484											
C16orf45	0	.	GRCh38	chr16	15583175	15583175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggagcaagaagaagacaagGaaatggctgatttcctgaga	16	6	14	5	0	0	5	0	2	0	4	1	8	1	7	1	3	1	2	1	3	5	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.439G>C	p.Glu147Gln	p.E147Q	ENST00000300006	5/6	114	90	24	154	154	0	strelka-varscan-mutect	C16orf45,missense_variant,p.Glu147Gln,ENST00000300006,NM_033201.2;C16orf45,missense_variant,p.Glu130Gln,ENST00000452191,NM_001142469.1;C16orf45,missense_variant,p.Glu112Gln,ENST00000564389,;C16orf45,missense_variant,p.Glu99Gln,ENST00000561692,;C16orf45,missense_variant,p.Glu71Gln,ENST00000565857,;C16orf45,intron_variant,,ENST00000566490,;C16orf45,non_coding_transcript_exon_variant,,ENST00000565913,;C16orf45,3_prime_UTR_variant,,ENST00000561813,;C16orf45,downstream_gene_variant,,ENST00000570249,;C16orf45,downstream_gene_variant,,ENST00000567550,;	C	ENST00000300006	Transcript	missense_variant	798/2404	439/615	147/204	E/Q	Gaa/Caa		1		1	C16orf45	HGNC	HGNC:19213	protein_coding	YES	CCDS10561.1	ENSP00000300006	Q96MC5	A0A024QZI8	UPI000006CFC7	NM_033201.2	deleterious(0.02)		5/6		hmmpanther:PTHR22704,hmmpanther:PTHR22704:SF1,Pfam_domain:PF12130,SMART_domains:SM01203																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	15583175	15583175	G	C	1	0	0	0	0	1	0	0	0	1855	1175	41	4		4	C16orf45	16	15583175	Missense_Mutation	SNP	G	C3N-00294_TP	538766	15583175	74755170	983	14485											
KIAA0430	0	.	GRCh38	chr16	15630468	15630468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggaaaccatgcctgtgtCtcaggtcactaagttccaat	10	12	9	10	0	2	0	2	0	1	0	4	1	3	1	3	2	2	1	3	2	3	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1388G>C	p.Arg463Thr	p.R463T	ENST00000396368	7/27	89	72	17	78	78	0	strelka-varscan-mutect	KIAA0430,missense_variant,p.Arg463Thr,ENST00000396368,NM_014647.3;KIAA0430,missense_variant,p.Arg463Thr,ENST00000540441,;KIAA0430,missense_variant,p.Arg463Thr,ENST00000551742,NM_001184998.1;KIAA0430,missense_variant,p.Arg460Thr,ENST00000548025,NM_001184999.1;KIAA0430,missense_variant,p.Arg463Thr,ENST00000552553,;KIAA0430,non_coding_transcript_exon_variant,,ENST00000548216,;	G	ENST00000396368	Transcript	missense_variant	1595/7743	1388/5229	463/1742	R/T	aGa/aCa		1		-1	KIAA0430	HGNC	HGNC:29562	protein_coding	YES	CCDS10562.2	ENSP00000379654	Q9Y4F3		UPI00006881BC	NM_014647.3	deleterious(0)		7/27		Gene3D:3.40.50.1010,Pfam_domain:PF01936,hmmpanther:PTHR14379,hmmpanther:PTHR14379:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	15630468	15630468	C	G	1	0	0	0	0	1	0	0	0	8086	913	32	4		4	KIAA0430	16	15630468	Missense_Mutation	SNP	C	C3N-00294_TP	47293	15630468	74707877	984	14486											
XYLT1	0	.	GRCh38	chr16	17117724	17117724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaactggcacccagtggtGgagaattttcactgtccaga	10	10	11	10	0	1	2	1	0	0	2	2	3	2	2	2	3	2	2	2	3	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2479C>T	p.His827Tyr	p.H827Y	ENST00000261381	11/12	178	133	45	179	179	0	strelka-varscan-mutect	XYLT1,missense_variant,p.His827Tyr,ENST00000261381,NM_022166.3;	A	ENST00000261381	Transcript	missense_variant	2564/9891	2479/2880	827/959	H/Y	Cac/Tac		1		-1	XYLT1	HGNC	HGNC:15516	protein_coding	YES	CCDS10569.1	ENSP00000261381	Q86Y38		UPI000000DCCE	NM_022166.3	tolerated(0.33)		11/12		hmmpanther:PTHR19297:SF91,hmmpanther:PTHR19297																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	17117724	17117724	G	A	1	0	0	0	0	1	0	0	0	18022	1348	47	3		3	XYLT1	16	17117724	Missense_Mutation	SNP	G	C3N-00294_TP	1487256	17117724	73220621	985	14487											
C16orf62	0	.	GRCh38	chr16	19628643	19628643	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacatgtttcttagcatcttCtttttcgatcactgggatta	8	18	7	8	1	4	0	1	0	3	0	5	3	4	1	0	1	1	2	0	1	2	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1657C>G	p.Leu553Val	p.L553V	ENST00000251143	17/31	142	102	40	156	156	0	strelka-varscan-mutect	C16orf62,missense_variant,p.Leu553Val,ENST00000251143,NM_020314.5;C16orf62,missense_variant,p.Leu553Val,ENST00000438132,;C16orf62,missense_variant,p.Leu314Val,ENST00000448695,;C16orf62,missense_variant,p.Leu213Val,ENST00000543152,;C16orf62,missense_variant,p.Leu486Val,ENST00000542263,NM_001300743.1;C16orf62,missense_variant,p.Leu464Val,ENST00000417362,;C16orf62,downstream_gene_variant,,ENST00000538552,;C16orf62,downstream_gene_variant,,ENST00000539705,;	G	ENST00000251143	Transcript	missense_variant	1705/3894	1657/3159	553/1052	L/V	Ctt/Gtt		1		1	C16orf62	HGNC	HGNC:24641	protein_coding	YES	CCDS32397.2	ENSP00000251143		E7EWW0	UPI0001E1129C	NM_020314.5	tolerated(0.09)		17/31		hmmpanther:PTHR13673:SF0,hmmpanther:PTHR13673																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	19628643	19628643	C	G	1	0	0	0	0	1	0	0	0	1861	913	32	4		4	C16orf62	16	19628643	Missense_Mutation	SNP	C	C3N-00294_TP	2510919	19628643	70709702	986	14488											
DNAH3	0	.	GRCh38	chr16	20963858	20963858	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtacttgatgcgcagattCagttcctcgctcttcgtgct	6	15	9	11	3	2	2	1	1	1	1	5	2	3	2	1	0	3	5	1	0	1	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.10026G>A	p.=	p.L3342L	ENST00000261383	53/62	322	264	58	391	391	0	strelka-varscan-mutect	DNAH3,synonymous_variant,p.=,ENST00000261383,NM_017539.2;	T	ENST00000261383	Transcript	synonymous_variant	10026/12394	10026/12351	3342/4116	L	ctG/ctA		1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2			53/62		hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	20963858	20963858	C	T	1	0	0	0	0	0	0	0	1	4418	813	29	3		3	DNAH3	16	20963858	Silent	SNP	C	C3N-00294_TP	1335215	20963858	69374487	987	14489											
DNAH3	0	.	GRCh38	chr16	21042179	21042179	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggatgctgaggatctgctGagcgaccacagacagcactt	10	9	12	10	1	1	3	0	2	1	1	1	6	1	5	1	2	4	3	1	2	0	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4486C>G	p.Gln1496Glu	p.Q1496E	ENST00000261383	32/62	64	50	14	58	58	0	strelka-varscan-mutect	DNAH3,missense_variant,p.Gln1496Glu,ENST00000261383,NM_017539.2;DNAH3,non_coding_transcript_exon_variant,,ENST00000572640,;DNAH3,upstream_gene_variant,,ENST00000572931,;	C	ENST00000261383	Transcript	missense_variant	4486/12394	4486/12351	1496/4116	Q/E	Cag/Gag		1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2	deleterious(0)		32/62		Low_complexity_(Seg):seg,hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676,Pfam_domain:PF12774,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	21042179	21042179	G	C	1	0	0	0	0	1	0	0	0	4418	1299	45	4		4	DNAH3	16	21042179	Missense_Mutation	SNP	G	C3N-00294_TP	78321	21042179	69296166	988	14490											
PLK1	0	.	GRCh38	chr16	23679065	23679065	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagatcccggaggtcctaGtggacccacgcagccggcgg	9	4	15	13	4	0	1	0	0	0	1	2	4	2	3	4	5	1	1	4	5	2	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.133G>C	p.Val45Leu	p.V45L	ENST00000300093	1/10	97	61	36	93	93	0	strelka-varscan-mutect	PLK1,missense_variant,p.Val45Leu,ENST00000300093,NM_005030.4;DCTN5,downstream_gene_variant,,ENST00000300087,NM_032486.3;PLK1,upstream_gene_variant,,ENST00000567897,;PLK1,upstream_gene_variant,,ENST00000568568,;CTD-2196E14.9,downstream_gene_variant,,ENST00000565266,;PLK1,non_coding_transcript_exon_variant,,ENST00000564202,;PLK1,missense_variant,p.Val45Leu,ENST00000570220,;PLK1,non_coding_transcript_exon_variant,,ENST00000562272,;PLK1,upstream_gene_variant,,ENST00000562407,;	C	ENST00000300093	Transcript	missense_variant	244/2227	133/1812	45/603	V/L	Gtg/Ctg		1		1	PLK1	HGNC	HGNC:9077	protein_coding	YES	CCDS10616.1	ENSP00000300093	P53350		UPI0000131BF9	NM_005030.4	tolerated(0.44)		1/10		hmmpanther:PTHR24345																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	23679065	23679065	G	C	1	0	0	0	0	1	0	0	0	12190	1029	36	4		4	PLK1	16	23679065	Missense_Mutation	SNP	G	C3N-00294_TP	2636886	23679065	66659280	989	14491											
PRKCB	0	.	GRCh38	chr16	24154694	24154694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttcccaggtcatgctttCagaacgaaaaggcacagatg	12	10	9	10	1	3	2	2	0	1	2	4	3	4	2	1	2	2	2	1	2	3	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1076C>T	p.Ser359Leu	p.S359L	ENST00000303531	10/17	82	62	20	100	100	0	strelka-varscan-mutect	PRKCB,missense_variant,p.Ser359Leu,ENST00000303531,NM_002738.6;PRKCB,missense_variant,p.Ser359Leu,ENST00000321728,NM_212535.2;PRKCB,missense_variant,p.Ser6Leu,ENST00000472066,;	T	ENST00000303531	Transcript	missense_variant	1228/7969	1076/2022	359/673	S/L	tCa/tTa		1		1	PRKCB	HGNC	HGNC:9395	protein_coding	YES	CCDS10619.1	ENSP00000305355	P05771		UPI000002ACF9	NM_002738.6	deleterious(0)		10/17		Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF000550,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF188,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	24154694	24154694	C	T	1	0	0	0	0	1	0	0	0	12641	838	29	3		3	PRKCB	16	24154694	Missense_Mutation	SNP	C	C3N-00294_TP	475629	24154694	66183651	990	14492											
SULT1A1	0	.	GRCh38	chr16	28605893	28605893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgcatcgaagcgctcattCtgcgccacggtgaaggtggt	7	9	13	12	5	2	1	1	1	1	0	4	2	3	1	2	3	2	2	2	3	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.816G>C	p.Gln272His	p.Q272H	ENST00000395609	10/10	218	182	36	224	224	0	strelka-varscan-mutect	SULT1A1,missense_variant,p.Gln272His,ENST00000395609,;SULT1A1,missense_variant,p.Gln272His,ENST00000569554,;SULT1A1,missense_variant,p.Gln272His,ENST00000395607,NM_177534.2,NM_177530.2;SULT1A1,missense_variant,p.Gln194His,ENST00000350842,NM_177536.3;SULT1A1,missense_variant,p.Gln272His,ENST00000314752,NM_001055.3,NM_177529.2;SULT1A1,missense_variant,p.Gln272His,ENST00000566189,;SULT1A1,downstream_gene_variant,,ENST00000567512,;SULT1A1,3_prime_UTR_variant,,ENST00000562058,;SULT1A1,3_prime_UTR_variant,,ENST00000564818,;SULT1A1,3_prime_UTR_variant,,ENST00000563493,;SULT1A1,non_coding_transcript_exon_variant,,ENST00000567998,;RP11-666O2.4,upstream_gene_variant,,ENST00000613051,;RP11-666O2.5,downstream_gene_variant,,ENST00000621738,;	G	ENST00000395609	Transcript	missense_variant	1575/1871	816/888	272/295	Q/H	caG/caC		1		-1	SULT1A1	HGNC	HGNC:11453	protein_coding	YES	CCDS32420.1	ENSP00000378972	P50225		UPI000013EA41		deleterious(0)		10/10		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF87,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	28605893	28605893	C	G	1	0	0	0	0	1	0	0	0	15760	912	32	4		4	SULT1A1	16	28605893	Missense_Mutation	SNP	C	C3N-00294_TP	4451199	28605893	61732452	991	14493											
SEZ6L2	0	.	GRCh38	chr16	29896972	29896972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggggcggggtcagcagttCtggcgcagtggggcctgccc	3	7	20	11	2	2	0	1	0	1	0	2	0	2	0	2	7	2	3	2	7	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.361G>C	p.Glu121Gln	p.E121Q	ENST00000617533	3/18	194	152	42	213	213	0	strelka-varscan-mutect	SEZ6L2,missense_variant,p.Glu121Gln,ENST00000308713,NM_201575.3,NM_001114099.2;SEZ6L2,missense_variant,p.Glu121Gln,ENST00000617533,NM_001243332.1;SEZ6L2,missense_variant,p.Glu77Gln,ENST00000537485,NM_001243333.1;SEZ6L2,missense_variant,p.Glu121Gln,ENST00000346932,NM_001114100.2;SEZ6L2,missense_variant,p.Glu77Gln,ENST00000568380,;SEZ6L2,intron_variant,,ENST00000350527,NM_012410.3;ASPHD1,upstream_gene_variant,,ENST00000308748,NM_181718.3;ASPHD1,upstream_gene_variant,,ENST00000483405,;ASPHD1,upstream_gene_variant,,ENST00000563177,;SEZ6L2,non_coding_transcript_exon_variant,,ENST00000562159,;ASPHD1,upstream_gene_variant,,ENST00000566693,;ASPHD1,upstream_gene_variant,,ENST00000414952,;	G	ENST00000617533	Transcript	missense_variant	606/3555	361/2772	121/923	E/Q	Gaa/Caa		1		-1	SEZ6L2	HGNC	HGNC:30844	protein_coding	YES	CCDS73865.1	ENSP00000481917		A0A087WYL5	UPI00001FFE46	NM_001243332.1	tolerated(0.37)		3/18		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	29896972	29896972	C	G	1	0	0	0	0	1	0	0	0	14423	922	32	4		4	SEZ6L2	16	29896972	Missense_Mutation	SNP	C	C3N-00294_TP	1291079	29896972	60441373	992	14494											
ASPHD1	0	.	GRCh38	chr16	29901296	29901296	+	Missense_Mutation	SNP	G	G	A																															acatgcaggccctaggggctGggagccgagctgggggtgtt																								rs866517331		C3N-00294_TP	C3N-00294_NB	G	G																c.325G>A	p.Gly109Arg	p.G109R	ENST00000308748	1/3	92	72	20	96	96	0	strelka-varscan-mutect	ASPHD1,missense_variant,p.Gly109Arg,ENST00000308748,NM_181718.3;ASPHD1,intron_variant,,ENST00000483405,;ASPHD1,intron_variant,,ENST00000563177,;SEZ6L2,upstream_gene_variant,,ENST00000308713,NM_201575.3,NM_001114099.2;SEZ6L2,upstream_gene_variant,,ENST00000617533,NM_001243332.1;SEZ6L2,upstream_gene_variant,,ENST00000537485,NM_001243333.1;SEZ6L2,upstream_gene_variant,,ENST00000350527,NM_012410.3;SEZ6L2,upstream_gene_variant,,ENST00000346932,NM_001114100.2;SEZ6L2,upstream_gene_variant,,ENST00000568380,;SEZ6L2,upstream_gene_variant,,ENST00000562159,;ASPHD1,missense_variant,p.Gly109Arg,ENST00000566693,;ASPHD1,missense_variant,p.Gly109Arg,ENST00000414952,;KCTD13,downstream_gene_variant,,ENST00000308768,;	A	ENST00000308748	Transcript	missense_variant	577/1584	325/1173	109/390	G/R	Ggg/Agg	rs866517331	1		1	ASPHD1	HGNC	HGNC:27380	protein_coding	YES	CCDS10660.1	ENSP00000311447	Q5U4P2		UPI0000197DF0	NM_181718.3	tolerated_low_confidence(0.07)		1/3		hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF27,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs866517331	.												A	3	1	46	29901296	29901296	G	A	1	0	0	0	0	1	0	0	0	1201	1348	47	3		3	ASPHD1	16	29901296	Missense_Mutation	SNP	G	C3N-00294_TP	4324	29901296	60437049	993	14495	319	2									
ASPHD1	0	.	GRCh38	chr16	29901298	29901298	+	Silent	SNP	G	G	A																															atgcaggccctaggggctggGagccgagctgggggtgttcg																								rs764930951		C3N-00294_TP	C3N-00294_NB	G	G																c.327G>A	p.=	p.G109G	ENST00000308748	1/3	92	72	20	97	97	0	strelka-varscan-mutect	ASPHD1,synonymous_variant,p.=,ENST00000308748,NM_181718.3;ASPHD1,intron_variant,,ENST00000483405,;ASPHD1,intron_variant,,ENST00000563177,;SEZ6L2,upstream_gene_variant,,ENST00000308713,NM_201575.3,NM_001114099.2;SEZ6L2,upstream_gene_variant,,ENST00000617533,NM_001243332.1;SEZ6L2,upstream_gene_variant,,ENST00000537485,NM_001243333.1;SEZ6L2,upstream_gene_variant,,ENST00000350527,NM_012410.3;SEZ6L2,upstream_gene_variant,,ENST00000346932,NM_001114100.2;SEZ6L2,upstream_gene_variant,,ENST00000568380,;SEZ6L2,upstream_gene_variant,,ENST00000562159,;ASPHD1,synonymous_variant,p.=,ENST00000566693,;ASPHD1,synonymous_variant,p.=,ENST00000414952,;KCTD13,downstream_gene_variant,,ENST00000308768,;	A	ENST00000308748	Transcript	synonymous_variant	579/1584	327/1173	109/390	G	ggG/ggA	rs764930951	1		1	ASPHD1	HGNC	HGNC:27380	protein_coding	YES	CCDS10660.1	ENSP00000311447	Q5U4P2		UPI0000197DF0	NM_181718.3			1/3		hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF27,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs764930951	.												A	2	1	46	29901298	29901298	G	A	1	0	0	0	0	0	0	0	1	1201	1161	41	3		3	ASPHD1	16	29901298	Silent	SNP	G	C3N-00294_TP	2	29901298	60437047	994	14496	319	2									
ZNF785	0	.	GRCh38	chr16	30585200	30585200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcctccgggctccacgcctCcacttctccttccacccacg	4	8	7	22	3	1	0	0	0	1	0	6	0	5	0	8	2	0	1	8	2	0	2			C3N-00294_TP	C3N-00294_NB	C	C																c.256G>A	p.Glu86Lys	p.E86K	ENST00000395216	2/3	108	91	17	124	124	0	strelka-varscan-mutect	ZNF785,missense_variant,p.Glu86Lys,ENST00000395216,NM_152458.6;ZNF785,missense_variant,p.Glu86Lys,ENST00000470110,;ZNF785,missense_variant,p.Gly58Glu,ENST00000567773,;AC002310.7,downstream_gene_variant,,ENST00000492040,;AC002310.7,downstream_gene_variant,,ENST00000486926,;RP11-146F11.5,upstream_gene_variant,,ENST00000563540,;ZNF785,upstream_gene_variant,,ENST00000562128,;AC002310.17,downstream_gene_variant,,ENST00000564755,;	T	ENST00000395216	Transcript	missense_variant	416/3282	256/1218	86/405	E/K	Gag/Aag	COSM4768867	1		-1	ZNF785	HGNC	HGNC:26496	protein_coding	YES	CCDS10685.1	ENSP00000378642	A8K8V0	A0A024QZC7	UPI0000074535	NM_152458.6	deleterious(0.03)		2/3		PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF130,SMART_domains:SM00349											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	46	30585200	30585200	C	T	1	0	0	0	0	1	0	0	0	18741	864	30	3		3	ZNF785	16	30585200	Missense_Mutation	SNP	C	C3N-00294_TP	683902	30585200	59753145	995	14497											
SRCAP	0	.	GRCh38	chr16	30700855	30700855	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccctcccctgctcaccctCagctcccagtcctacagaca	7	7	5	22	0	2	1	2	0	0	1	5	1	5	1	7	0	3	2	7	0	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.31C>G	p.Gln11Glu	p.Q11E	ENST00000262518	3/34	145	127	18	151	151	0	strelka-varscan-mutect	SRCAP,missense_variant,p.Gln11Glu,ENST00000262518,NM_006662.2;SRCAP,missense_variant,p.Gln11Glu,ENST00000411466,;RNU6-1043P,downstream_gene_variant,,ENST00000410355,;RP11-146F11.1,upstream_gene_variant,,ENST00000568500,;RP11-146F11.1,upstream_gene_variant,,ENST00000564775,;RP11-2C24.9,upstream_gene_variant,,ENST00000380361,;	G	ENST00000262518	Transcript	missense_variant	416/11754	31/9693	11/3230	Q/E	Cag/Gag		1		1	SRCAP	HGNC	HGNC:16974	protein_coding	YES	CCDS10689.2	ENSP00000262518	Q6ZRS2		UPI000059D368	NM_006662.2	deleterious_low_confidence(0)		3/34		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF638																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	46	30700855	30700855	C	G	1	0	0	0	0	1	0	0	0	15493	827	29	4		4	SRCAP	16	30700855	Missense_Mutation	SNP	C	C3N-00294_TP	115655	30700855	59637490	996	14498											
SRCAP	0	.	GRCh38	chr16	30724969	30724969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtttccaaggatgagcctGacacactgacattgcgctct	9	11	9	12	1	1	3	0	3	1	0	2	4	2	4	2	1	2	2	2	1	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.5545G>A	p.Asp1849Asn	p.D1849N	ENST00000262518	25/34	245	213	32	285	285	0	strelka-varscan-mutect	SRCAP,missense_variant,p.Asp1849Asn,ENST00000262518,NM_006662.2;SRCAP,missense_variant,p.Asp1590Asn,ENST00000395059,;SRCAP,missense_variant,p.Asp1549Asn,ENST00000483083,;RP11-2C24.9,missense_variant,p.Asp1672Asn,ENST00000380361,;	A	ENST00000262518	Transcript	missense_variant	5930/11754	5545/9693	1849/3230	D/N	Gac/Aac		1		1	SRCAP	HGNC	HGNC:16974	protein_coding	YES	CCDS10689.2	ENSP00000262518	Q6ZRS2		UPI000059D368	NM_006662.2	deleterious_low_confidence(0)		25/34																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	46	30724969	30724969	G	A	1	0	0	0	0	1	0	0	0	15493	1290	45	3		3	SRCAP	16	30724969	Missense_Mutation	SNP	G	C3N-00294_TP	24114	30724969	59613376	997	14499											
SRCAP	0	.	GRCh38	chr16	30737187	30737187	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggcacccaccggcgcagtAaaaaggccaaagcccctgag	13	2	12	14	2	0	1	0	1	0	0	0	2	0	1	5	3	1	3	5	3	4	1	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.7147A>G	p.Lys2383Glu	p.K2383E	ENST00000262518	34/34	227	185	42	280	280	0	strelka-varscan-mutect	SRCAP,missense_variant,p.Lys2383Glu,ENST00000262518,NM_006662.2;SRCAP,missense_variant,p.Lys2124Glu,ENST00000395059,;TMEM265,upstream_gene_variant,,ENST00000615541,NM_001256829.1;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;RP11-2C24.9,missense_variant,p.Lys2206Glu,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,;	G	ENST00000262518	Transcript	missense_variant	7532/11754	7147/9693	2383/3230	K/E	Aaa/Gaa		1		1	SRCAP	HGNC	HGNC:16974	protein_coding	YES	CCDS10689.2	ENSP00000262518	Q6ZRS2		UPI000059D368	NM_006662.2	deleterious_low_confidence(0.01)		34/34																			MODERATE		SNV	2			1										PASS		.	.												G	3	3	46	30737187	30737187	A	G	1	0	0	0	0	1	0	0	0	15493	363	13	5		5	SRCAP	16	30737187	Missense_Mutation	SNP	A	C3N-00294_TP	12218	30737187	59601158	998	14500											
PRSS36	0	.	GRCh38	chr16	31145812	31145812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggtgtccctgcggccctCtgggtagccagcacacagca	7	6	13	15	1	1	0	0	0	1	0	2	0	2	0	3	3	4	4	3	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.697G>A	p.Glu233Lys	p.E233K	ENST00000268281	6/15	89	71	18	108	108	0	strelka-varscan-mutect	PRSS36,missense_variant,p.Glu233Lys,ENST00000268281,NM_173502.4;PRSS36,missense_variant,p.Glu233Lys,ENST00000569305,NM_001258290.1;PRSS36,missense_variant,p.Glu233Lys,ENST00000418068,NM_001258291.1;PRSS36,non_coding_transcript_exon_variant,,ENST00000562368,;PRSS36,upstream_gene_variant,,ENST00000563693,;PRSS36,downstream_gene_variant,,ENST00000569614,;PRSS36,downstream_gene_variant,,ENST00000562390,;PRSS36,downstream_gene_variant,,ENST00000561897,;	T	ENST00000268281	Transcript	missense_variant	756/2840	697/2568	233/855	E/K	Gag/Aag		1		-1	PRSS36	HGNC	HGNC:26906	protein_coding	YES	CCDS32436.1	ENSP00000268281	Q5K4E3		UPI00001FFF6A	NM_173502.4	tolerated(0.18)		6/15		PROSITE_profiles:PS50240,hmmpanther:PTHR24276,hmmpanther:PTHR24276:SF62,PIRSF_domain:PIRSF037933,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	31145812	31145812	C	T	1	0	0	0	0	1	0	0	0	12772	922	32	3		3	PRSS36	16	31145812	Missense_Mutation	SNP	C	C3N-00294_TP	408625	31145812	59192533	999	14501											
ITGAX	0	.	GRCh38	chr16	31359943	31359943	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctgatgcagttctccaaCaaattccaaacacacttcac	13	10	3	15	0	2	1	1	1	1	0	5	1	4	1	3	0	3	2	3	0	3	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.585C>A	p.Asn195Lys	p.N195K	ENST00000562522	7/31	207	120	87	224	224	0	strelka-varscan-mutect	ITGAX,missense_variant,p.Asn195Lys,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Asn195Lys,ENST00000562522,NM_001286375.1;ITGAX,downstream_gene_variant,,ENST00000562918,;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,downstream_gene_variant,,ENST00000567409,;ITGAX,downstream_gene_variant,,ENST00000564308,;RP11-120K18.3,downstream_gene_variant,,ENST00000561830,;	A	ENST00000562522	Transcript	missense_variant	618/3990	585/3510	195/1169	N/K	aaC/aaA		1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	tolerated(0.1)		7/31		Pfam_domain:PF00092,Prints_domain:PR00453,PROSITE_profiles:PS50234,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	31359943	31359943	C	A	1	0	0	0	0	1	0	0	0	7796	477	17	2		2	ITGAX	16	31359943	Missense_Mutation	SNP	C	C3N-00294_TP	214131	31359943	58978402	1000	14502											
NLRC5	0	.	GRCh38	chr16	57039824	57039824	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgtttgcccaggagccaGaggagcagaaggggccccag	10	5	15	11	0	1	2	1	0	0	2	1	4	1	4	4	4	3	2	4	4	1	1	rs777671692		C3N-00294_TP	C3N-00294_NB	G	G																c.2845G>C	p.Glu949Gln	p.E949Q	ENST00000262510	16/49	146	113	33	178	178	0	strelka-varscan-mutect	NLRC5,missense_variant,p.Glu949Gln,ENST00000262510,;NLRC5,missense_variant,p.Glu949Gln,ENST00000436936,NM_032206.4;NLRC5,missense_variant,p.Glu949Gln,ENST00000539144,;NLRC5,missense_variant,p.Glu702Gln,ENST00000538805,;NLRC5,missense_variant,p.Glu456Gln,ENST00000538110,;NLRC5,missense_variant,p.Glu248Gln,ENST00000543030,;NLRC5,missense_variant,p.Glu677Gln,ENST00000545081,;NLRC5,missense_variant,p.Glu100Gln,ENST00000538453,;NLRC5,3_prime_UTR_variant,,ENST00000539881,;NLRC5,upstream_gene_variant,,ENST00000540182,;NLRC5,upstream_gene_variant,,ENST00000537056,;NLRC5,upstream_gene_variant,,ENST00000538930,;NLRC5,upstream_gene_variant,,ENST00000538778,;NLRC5,upstream_gene_variant,,ENST00000541020,;	C	ENST00000262510	Transcript	missense_variant	3070/6822	2845/5601	949/1866	E/Q	Gag/Cag	rs777671692	1		1	NLRC5	HGNC	HGNC:29933	protein_coding	YES	CCDS10773.1	ENSP00000262510	Q86WI3		UPI00001AEE94		deleterious(0.05)		16/49																			MODERATE	1	SNV	5			1										PASS		rs777671692	.												C	3	2	46	57039824	57039824	G	C	1	0	0	0	0	1	0	0	0	10507	943	33	4		4	NLRC5	16	57039824	Missense_Mutation	SNP	G	C3N-00294_TP	25679881	57039824	33298521	1001	14503											
RSPRY1	0	.	GRCh38	chr16	57216106	57216106	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatcttttgttgtttttcaGaagttacagtcccaccccac	8	17	5	11	0	2	1	1	0	1	1	3	1	3	1	3	0	1	3	3	0	3	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.703-1G>A		p.X235_splice	ENST00000537866		144	115	29	175	175	0	strelka-varscan-mutect	RSPRY1,splice_acceptor_variant,,ENST00000537866,;RSPRY1,splice_acceptor_variant,,ENST00000394420,NM_001305164.1,NM_133368.1;RSPRY1,splice_acceptor_variant,,ENST00000568920,;RSPRY1,intron_variant,,ENST00000562768,;RSPRY1,upstream_gene_variant,,ENST00000564530,;	A	ENST00000537866	Transcript	splice_acceptor_variant	-/3586	703/1731	235/576				1		1	RSPRY1	HGNC	HGNC:29420	protein_coding	YES	CCDS10775.1	ENSP00000443176	Q96DX4	A0A024R6U0	UPI000006E516					6/14																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	46	57216106	57216106	G	A	1	0	0	0	0	0	0	1	0	13971	956	33	3		3	RSPRY1	16	57216106	Splice_Site	SNP	G	C3N-00294_TP	176282	57216106	33122239	1002	14504											
PRSS54	0	.	GRCh38	chr16	58291123	58291123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtagaaaacggaagctttCtggacgccacaacctgcgga	12	6	11	12	4	1	1	0	0	1	1	1	4	1	4	3	3	4	2	3	3	5	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.99G>A	p.=	p.Q33Q	ENST00000219301	4/7	128	99	29	159	159	0	strelka-varscan-mutect	PRSS54,synonymous_variant,p.=,ENST00000219301,NM_001305173.1,NM_001080492.1;PRSS54,synonymous_variant,p.=,ENST00000567164,;PRSS54,synonymous_variant,p.=,ENST00000569727,;PRSS54,intron_variant,,ENST00000543437,NM_001305174.1;PRSS54,intron_variant,,ENST00000569079,;GINS3,upstream_gene_variant,,ENST00000561952,;GINS3,upstream_gene_variant,,ENST00000564814,;GINS3,upstream_gene_variant,,ENST00000568468,;GINS3,upstream_gene_variant,,ENST00000567400,;	T	ENST00000219301	Transcript	synonymous_variant	494/1810	99/1188	33/395	Q	caG/caA		1		-1	PRSS54	HGNC	HGNC:26336	protein_coding	YES	CCDS32463.1	ENSP00000219301	Q6PEW0	A0A140VKC3	UPI0000199F24	NM_001305173.1,NM_001080492.1			4/7																			LOW	1	SNV	5			1										PASS		rs1003434325	.												T	2	4	46	58291123	58291123	C	T	1	0	0	0	0	0	0	0	1	12782	912	32	3		3	PRSS54	16	58291123	Silent	SNP	C	C3N-00294_TP	1075017	58291123	32047222	1003	14505											
NAE1	0	.	GRCh38	chr16	66816984	66816984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgtctaatcaaatctctGaagtcctctttttctttata	9	19	3	10	0	5	1	1	1	4	0	7	1	6	1	2	0	0	0	2	0	5	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.738C>T	p.=	p.F246F	ENST00000359087	10/20	28	23	5	73	73	0	strelka-varscan-mutect	NAE1,synonymous_variant,p.=,ENST00000379463,NM_001018159.1;NAE1,synonymous_variant,p.=,ENST00000290810,NM_003905.3;NAE1,synonymous_variant,p.=,ENST00000359087,NM_001286500.1;NAE1,synonymous_variant,p.=,ENST00000394074,NM_001018160.1;NAE1,downstream_gene_variant,,ENST00000561579,;NAE1,downstream_gene_variant,,ENST00000566336,;NAE1,downstream_gene_variant,,ENST00000563185,;NAE1,downstream_gene_variant,,ENST00000564040,;NAE1,3_prime_UTR_variant,,ENST00000567743,;NAE1,3_prime_UTR_variant,,ENST00000563253,;NAE1,upstream_gene_variant,,ENST00000567521,;NAE1,downstream_gene_variant,,ENST00000569388,;	A	ENST00000359087	Transcript	synonymous_variant	815/1825	738/1614	246/537	F	ttC/ttT		1		-1	NAE1	HGNC	HGNC:621	protein_coding	YES	CCDS67050.1	ENSP00000351990	Q13564		UPI000059D39C	NM_001286500.1			10/20		Pfam_domain:PF00899,PIRSF_domain:PIRSF039099,Superfamily_domains:SSF69572																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	46	66816984	66816984	G	A	1	0	0	0	0	0	0	0	1	10146	1281	45	3		3	NAE1	16	66816984	Silent	SNP	G	C3N-00294_TP	8525861	66816984	23521361	1004	14506											
TRADD	0	.	GRCh38	chr16	67154872	67154872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgcagcgcccggcagcctCgctgcagtgagcgccccacc	5	3	12	21	5	0	1	0	1	0	0	1	1	0	1	6	1	4	4	6	1	0	0	rs763349245		C3N-00294_TP	C3N-00294_NB	C	C																c.716G>A	p.Arg239Gln	p.R239Q	ENST00000345057	5/5	135	108	27	137	137	0	strelka-varscan-mutect	TRADD,missense_variant,p.Arg239Gln,ENST00000345057,NM_003789.3;TRADD,missense_variant,p.Arg179Gln,ENST00000486556,;B3GNT9,upstream_gene_variant,,ENST00000449549,NM_033309.2;TRADD,downstream_gene_variant,,ENST00000566104,;TRADD,non_coding_transcript_exon_variant,,ENST00000566247,;TRADD,downstream_gene_variant,,ENST00000563348,;	T	ENST00000345057	Transcript	missense_variant	1185/1877	716/939	239/312	R/Q	cGa/cAa	rs763349245,COSM1749690	1		-1	TRADD	HGNC	HGNC:12030	protein_coding	YES	CCDS10829.1	ENSP00000341268	Q15628		UPI00001372E3	NM_003789.3	deleterious(0.02)		5/5		PROSITE_profiles:PS50017,hmmpanther:PTHR14913,Pfam_domain:PF00531,Gene3D:1.10.533.10,SMART_domains:SM00005,Superfamily_domains:SSF47986											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs763349245	.												T	3	4	46	67154872	67154872	C	T	1	0	0	0	0	1	0	0	0	16919	884	31	1		1	TRADD	16	67154872	Missense_Mutation	SNP	C	C3N-00294_TP	337888	67154872	23183473	1005	14507											
ELMO3	0	.	GRCh38	chr16	67200273	67200273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagccctgaggcgccttgttCcgctggcctcggacatgatc	6	9	12	14	3	0	2	0	2	0	0	3	3	1	3	4	3	1	2	4	3	1	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.484C>T	p.Pro162Ser	p.P162S	ENST00000393997	5/20	174	144	30	213	213	0	strelka-varscan-mutect	ELMO3,missense_variant,p.Pro162Ser,ENST00000393997,NM_024712.3;ELMO3,missense_variant,p.Pro145Ser,ENST00000360833,;ELMO3,5_prime_UTR_variant,,ENST00000477898,;E2F4,downstream_gene_variant,,ENST00000379378,NM_001950.3;E2F4,downstream_gene_variant,,ENST00000565226,;MIR328,downstream_gene_variant,,ENST00000385213,;ELMO3,non_coding_transcript_exon_variant,,ENST00000571638,;CTC-277H1.6,downstream_gene_variant,,ENST00000623816,;ELMO3,intron_variant,,ENST00000571587,;E2F4,downstream_gene_variant,,ENST00000567007,;E2F4,downstream_gene_variant,,ENST00000568839,;E2F4,downstream_gene_variant,,ENST00000569573,;E2F4,downstream_gene_variant,,ENST00000567228,;	T	ENST00000393997	Transcript	missense_variant	541/2531	484/2322	162/773	P/S	Ccg/Tcg		1		1	ELMO3	HGNC	HGNC:17289	protein_coding	YES	CCDS10833.2	ENSP00000377566	Q96BJ8		UPI00006976B6	NM_024712.3	tolerated(0.92)		5/20		Gene3D:1.25.10.10,hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF16,Superfamily_domains:SSF48371																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	46	67200273	67200273	C	T	1	0	0	0	0	1	0	0	0	4901	855	30	3		3	ELMO3	16	67200273	Missense_Mutation	SNP	C	C3N-00294_TP	45401	67200273	23138072	1006	14508											
AC027682.1	0	.	GRCh38	chr16	67540471	67540471	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactcagggctggctggcttCgccaggctgtgtgtaggcga	6	9	16	10	2	1	0	1	0	0	0	2	1	1	0	1	5	1	5	1	5	2	2	rs747087160		C3N-00294_TP	C3N-00294_NB	C	C																c.687C>T	p.=	p.F229F	ENST00000428437	9/22	212	182	30	258	258	0	strelka-varscan-mutect	FAM65A,synonymous_variant,p.=,ENST00000540839,;FAM65A,synonymous_variant,p.=,ENST00000428437,NM_001193524.1;FAM65A,synonymous_variant,p.=,ENST00000379312,NM_001193522.1;FAM65A,synonymous_variant,p.=,ENST00000042381,NM_024519.3;AC027682.1,synonymous_variant,p.=,ENST00000422602,NM_001193523.1;FAM65A,synonymous_variant,p.=,ENST00000566559,;FAM65A,synonymous_variant,p.=,ENST00000569253,;FAM65A,synonymous_variant,p.=,ENST00000569179,;FAM65A,downstream_gene_variant,,ENST00000566907,;FAM65A,downstream_gene_variant,,ENST00000566920,;FAM65A,downstream_gene_variant,,ENST00000565176,;FAM65A,downstream_gene_variant,,ENST00000562755,;FAM65A,upstream_gene_variant,,ENST00000568959,;FAM65A,downstream_gene_variant,,ENST00000562116,;CTD-2012K14.2,upstream_gene_variant,,ENST00000567122,;CTD-2012K14.3,downstream_gene_variant,,ENST00000563083,;CTD-2012K14.4,downstream_gene_variant,,ENST00000564717,;FAM65A,non_coding_transcript_exon_variant,,ENST00000566522,;FAM65A,3_prime_UTR_variant,,ENST00000566815,;FAM65A,non_coding_transcript_exon_variant,,ENST00000569474,;FAM65A,non_coding_transcript_exon_variant,,ENST00000561534,;FAM65A,non_coding_transcript_exon_variant,,ENST00000566730,;FAM65A,upstream_gene_variant,,ENST00000569733,;FAM65A,upstream_gene_variant,,ENST00000564616,;FAM65A,upstream_gene_variant,,ENST00000565190,;	T	ENST00000428437	Transcript	synonymous_variant	812/4152	687/3702	229/1233	F	ttC/ttT	rs747087160,COSM5431462,COSM5431463	1		1	FAM65A	HGNC	HGNC:25836	protein_coding	YES	CCDS54027.1	ENSP00000389456	Q6ZS17		UPI00017A7136	NM_001193524.1			9/22		hmmpanther:PTHR15829:SF1,hmmpanther:PTHR15829,Pfam_domain:PF15903											0,1,1						LOW		SNV	2		0,1,1	1										PASS		rs747087160	.												T	2	4	46	67540471	67540471	C	T	1	0	0	0	0	0	0	0	1	129	883	31	1		1	AC027682.1	16	67540471	Silent	SNP	C	C3N-00294_TP	340198	67540471	22797874	1007	14509											
CARMIL2	0	.	GRCh38	chr16	67647945	67647945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcctggggcgctgggggcctCcgaggacagtggggtgagtg	4	7	21	9	2	0	1	0	1	0	0	2	3	2	2	3	7	0	1	3	7	0	0	rs748704156		C3N-00294_TP	C3N-00294_NB	C	C																c.1058C>G	p.Ser353Cys	p.S353C	ENST00000334583	13/38	64	55	9	60	60	0	strelka-varscan-mutect	CARMIL2,missense_variant,p.Ser353Cys,ENST00000334583,NM_001013838.1;CARMIL2,missense_variant,p.Ser353Cys,ENST00000545661,NM_001317026.1;CARMIL2,non_coding_transcript_exon_variant,,ENST00000602321,;CARMIL2,non_coding_transcript_exon_variant,,ENST00000602742,;CARMIL2,downstream_gene_variant,,ENST00000602563,;CARMIL2,upstream_gene_variant,,ENST00000602562,;CARMIL2,upstream_gene_variant,,ENST00000602633,;CARMIL2,upstream_gene_variant,,ENST00000602931,;CARMIL2,downstream_gene_variant,,ENST00000602467,;	G	ENST00000334583	Transcript	missense_variant	1386/4687	1058/4308	353/1435	S/C	tCc/tGc	rs748704156	1		1	CARMIL2	HGNC	HGNC:27089	protein_coding	YES	CCDS45513.1	ENSP00000334958	Q6F5E8		UPI00005194F2	NM_001013838.1	deleterious(0.03)		13/38		hmmpanther:PTHR24112:SF32,hmmpanther:PTHR24112,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		rs748704156	.												G	3	3	46	67647945	67647945	C	G	1	0	0	0	0	1	0	0	0	2352	855	30	4		4	CARMIL2	16	67647945	Missense_Mutation	SNP	C	C3N-00294_TP	107474	67647945	22690400	1008	14510											
SLC12A4	0	.	GRCh38	chr16	67945965	67945965	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctcaccatctccaccacctCcacctcggcctcaaggcgca	8	6	6	21	2	3	0	2	0	1	0	6	0	4	0	7	2	0	2	7	2	1	0	rs778036954		C3N-00294_TP	C3N-00294_NB	C	C																c.2731G>C	p.Glu911Gln	p.E911Q	ENST00000422611	19/23	100	80	20	124	124	0	strelka-varscan-mutect	SLC12A4,missense_variant,p.Glu909Gln,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,missense_variant,p.Glu911Gln,ENST00000422611,NM_001145962.1;SLC12A4,missense_variant,p.Glu909Gln,ENST00000576616,;SLC12A4,missense_variant,p.Glu878Gln,ENST00000541864,NM_001145964.1;SLC12A4,missense_variant,p.Glu861Gln,ENST00000572037,;SLC12A4,missense_variant,p.Glu903Gln,ENST00000537830,NM_001145963.1;LCAT,upstream_gene_variant,,ENST00000264005,NM_000229.1;LCAT,upstream_gene_variant,,ENST00000570980,;LCAT,upstream_gene_variant,,ENST00000576450,;LCAT,upstream_gene_variant,,ENST00000570369,;LCAT,upstream_gene_variant,,ENST00000570396,;SLC12A4,3_prime_UTR_variant,,ENST00000575857,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000570802,;SLC12A4,downstream_gene_variant,,ENST00000573023,;LCAT,upstream_gene_variant,,ENST00000573538,;SLC12A4,downstream_gene_variant,,ENST00000574665,;LCAT,upstream_gene_variant,,ENST00000575467,;SLC12A4,downstream_gene_variant,,ENST00000573702,;SLC12A4,downstream_gene_variant,,ENST00000572476,;LCAT,upstream_gene_variant,,ENST00000575277,;LCAT,upstream_gene_variant,,ENST00000573846,;SLC12A4,downstream_gene_variant,,ENST00000572766,;SLC12A4,downstream_gene_variant,,ENST00000576513,;SLC12A4,upstream_gene_variant,,ENST00000570616,;	G	ENST00000422611	Transcript	missense_variant	2771/4670	2731/3264	911/1087	E/Q	Gag/Cag	rs778036954	1		-1	SLC12A4	HGNC	HGNC:10913	protein_coding	YES	CCDS54032.1	ENSP00000395983	Q9UP95		UPI00019863A8	NM_001145962.1	deleterious(0.04)		19/23		hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF46,Pfam_domain:PF03522,TIGRFAM_domain:TIGR00930																	MODERATE		SNV	2			1										PASS		rs778036954	.												G	3	3	46	67945965	67945965	C	G	1	0	0	0	0	1	0	0	0	14650	864	30	4		4	SLC12A4	16	67945965	Missense_Mutation	SNP	C	C3N-00294_TP	298020	67945965	22392380	1009	14511											
SLC12A4	0	.	GRCh38	chr16	67945977	67945977	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacctccacctcggcctCaaggcgcagatggtacagaa	11	5	9	16	2	1	2	1	0	0	2	3	2	2	2	5	3	1	2	5	3	3	1	rs200160814		C3N-00294_TP	C3N-00294_NB	C	C																c.2719G>T	p.Glu907Ter	p.E907*	ENST00000422611	19/23	106	86	20	128	128	0	strelka-varscan-mutect	SLC12A4,stop_gained,p.Glu905Ter,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,stop_gained,p.Glu907Ter,ENST00000422611,NM_001145962.1;SLC12A4,stop_gained,p.Glu905Ter,ENST00000576616,;SLC12A4,stop_gained,p.Glu874Ter,ENST00000541864,NM_001145964.1;SLC12A4,stop_gained,p.Glu857Ter,ENST00000572037,;SLC12A4,stop_gained,p.Glu899Ter,ENST00000537830,NM_001145963.1;LCAT,upstream_gene_variant,,ENST00000264005,NM_000229.1;LCAT,upstream_gene_variant,,ENST00000570980,;LCAT,upstream_gene_variant,,ENST00000576450,;LCAT,upstream_gene_variant,,ENST00000570369,;LCAT,upstream_gene_variant,,ENST00000570396,;SLC12A4,3_prime_UTR_variant,,ENST00000575857,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000570802,;SLC12A4,downstream_gene_variant,,ENST00000573023,;LCAT,upstream_gene_variant,,ENST00000573538,;SLC12A4,downstream_gene_variant,,ENST00000574665,;LCAT,upstream_gene_variant,,ENST00000575467,;SLC12A4,downstream_gene_variant,,ENST00000573702,;SLC12A4,downstream_gene_variant,,ENST00000572476,;LCAT,upstream_gene_variant,,ENST00000575277,;LCAT,upstream_gene_variant,,ENST00000573846,;SLC12A4,downstream_gene_variant,,ENST00000572766,;SLC12A4,downstream_gene_variant,,ENST00000576513,;SLC12A4,upstream_gene_variant,,ENST00000570616,;	A	ENST00000422611	Transcript	stop_gained	2759/4670	2719/3264	907/1087	E/*	Gag/Tag	rs200160814	1		-1	SLC12A4	HGNC	HGNC:10913	protein_coding	YES	CCDS54032.1	ENSP00000395983	Q9UP95		UPI00019863A8	NM_001145962.1			19/23		hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF46,Pfam_domain:PF03522,TIGRFAM_domain:TIGR00930																	HIGH		SNV	2			1										PASS		rs200160814	.												A	4	1	46	67945977	67945977	C	A	1	0	0	0	0	0	1	0	0	14650	835	29	2		2	SLC12A4	16	67945977	Nonsense_Mutation	SNP	C	C3N-00294_TP	12	67945977	22392368	1010	14512											
NFATC3	0	.	GRCh38	chr16	68174499	68174499	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaatccaaaatcatttttCttgaaaaaggacaaggtaag	18	10	7	6	0	2	2	1	1	1	1	3	3	3	3	1	2	0	1	1	2	7	4			C3N-00294_TP	C3N-00294_NB	C	C																c.1900C>G	p.Leu634Val	p.L634V	ENST00000346183	6/10	39	30	9	64	64	0	strelka-varscan-mutect	NFATC3,missense_variant,p.Leu634Val,ENST00000349223,NM_173163.2;NFATC3,missense_variant,p.Leu634Val,ENST00000329524,NM_004555.3;NFATC3,missense_variant,p.Leu634Val,ENST00000346183,NM_173165.2;NFATC3,missense_variant,p.Leu634Val,ENST00000575270,;NFATC3,missense_variant,p.Leu619Val,ENST00000562926,;NFATC3,missense_variant,p.Leu619Val,ENST00000570212,;NFATC3,non_coding_transcript_exon_variant,,ENST00000535127,;NFATC3,non_coding_transcript_exon_variant,,ENST00000563319,;NFATC3,non_coding_transcript_exon_variant,,ENST00000566301,;NFATC3,non_coding_transcript_exon_variant,,ENST00000563288,;NFATC3,non_coding_transcript_exon_variant,,ENST00000563796,;NFATC3,non_coding_transcript_exon_variant,,ENST00000569766,;NFATC3,non_coding_transcript_exon_variant,,ENST00000567152,;NFATC3,3_prime_UTR_variant,,ENST00000539828,;NFATC3,3_prime_UTR_variant,,ENST00000568466,;NFATC3,non_coding_transcript_exon_variant,,ENST00000553077,;NFATC3,non_coding_transcript_exon_variant,,ENST00000549350,;NFATC3,non_coding_transcript_exon_variant,,ENST00000379165,;	G	ENST00000346183	Transcript	missense_variant	1924/6040	1900/3228	634/1075	L/V	Ctt/Gtt	COSM4474192,COSM4474193,COSM972682,COSM972683	1		1	NFATC3	HGNC	HGNC:7777	protein_coding	YES	CCDS10860.1	ENSP00000300659	Q12968	B5B2S1	UPI0000000C21	NM_173165.2	tolerated(0.49)		6/10		Gene3D:2.60.40.10,Pfam_domain:PF16179,Prints_domain:PR01789,hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF6,SMART_domains:SM00429,Superfamily_domains:SSF81296											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs1375594022	.												G	3	3	46	68174499	68174499	C	G	1	0	0	0	0	1	0	0	0	10401	913	32	4		4	NFATC3	16	68174499	Missense_Mutation	SNP	C	C3N-00294_TP	228522	68174499	22163846	1011	14513											
SMPD3	0	.	GRCh38	chr16	68372034	68372034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcaggcagcacgggtcgtCtgcccgctggcgcttctcgt	3	9	14	15	5	2	0	0	0	2	0	4	0	2	0	1	3	3	5	1	3	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.148G>C	p.Asp50His	p.D50H	ENST00000219334	3/9	293	234	59	273	272	1	strelka-varscan-mutect	SMPD3,missense_variant,p.Asp50His,ENST00000219334,NM_018667.3;SMPD3,missense_variant,p.Asp50His,ENST00000563226,;SMPD3,missense_variant,p.Asp50His,ENST00000568373,;SMPD3,missense_variant,p.Asp50His,ENST00000561749,;SMPD3,upstream_gene_variant,,ENST00000574662,;SMPD3,intron_variant,,ENST00000566723,;RP11-71L14.3,upstream_gene_variant,,ENST00000624251,;SMPD3,upstream_gene_variant,,ENST00000566009,;SMPD3,upstream_gene_variant,,ENST00000566466,;SMPD3,upstream_gene_variant,,ENST00000563455,;SMPD3,upstream_gene_variant,,ENST00000567811,;SMPD3,upstream_gene_variant,,ENST00000567223,;	G	ENST00000219334	Transcript	missense_variant	752/5453	148/1968	50/655	D/H	Gac/Cac		1		-1	SMPD3	HGNC	HGNC:14240	protein_coding	YES	CCDS10867.1	ENSP00000219334	Q9NY59		UPI0000037769	NM_018667.3	deleterious(0.02)		3/9		hmmpanther:PTHR16320:SF8,hmmpanther:PTHR16320																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	68372034	68372034	C	G	1	0	0	0	0	1	0	0	0	15127	913	32	4		4	SMPD3	16	68372034	Missense_Mutation	SNP	C	C3N-00294_TP	197535	68372034	21966311	1012	14514											
SNTB2	0	.	GRCh38	chr16	69270252	69270252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaagagatgcctgggcgtCaccatgccacagctacccac	11	5	10	15	1	1	1	1	0	0	1	1	3	1	1	4	1	4	1	4	1	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1115C>T	p.Ser372Leu	p.S372L	ENST00000336278	4/7	246	191	55	220	220	0	strelka-varscan-mutect	SNTB2,missense_variant,p.Ser372Leu,ENST00000336278,NM_006750.3;SNTB2,downstream_gene_variant,,ENST00000525632,;SNTB2,downstream_gene_variant,,ENST00000528525,;SNTB2,3_prime_UTR_variant,,ENST00000467311,;	T	ENST00000336278	Transcript	missense_variant	1153/9789	1115/1623	372/540	S/L	tCa/tTa		1		1	SNTB2	HGNC	HGNC:11169	protein_coding	YES	CCDS10873.1	ENSP00000338191	Q13425	A0A024R732	UPI0000135B21	NM_006750.3	tolerated(0.07)		4/7		PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF8,SMART_domains:SM00233																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	69270252	69270252	C	T	1	0	0	0	0	1	0	0	0	15193	838	29	3		3	SNTB2	16	69270252	Missense_Mutation	SNP	C	C3N-00294_TP	898218	69270252	21068093	1013	14515											
TERF2	0	.	GRCh38	chr16	69385422	69385422	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttcaatccgcgacagAcactgcataacccgcagcaa	12	7	6	16	3	2	1	1	0	1	1	3	2	3	1	3	0	3	3	3	0	3	3	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.444T>G	p.Cys148Trp	p.C148W	ENST00000254942	2/10	249	144	105	333	333	0	strelka-varscan-mutect	TERF2,missense_variant,p.Cys148Trp,ENST00000254942,NM_005652.4;TERF2,missense_variant,p.Cys148Trp,ENST00000567296,;TERF2,missense_variant,p.Cys27Trp,ENST00000566750,;TERF2,missense_variant,p.Cys3Trp,ENST00000567841,;TERF2,upstream_gene_variant,,ENST00000566257,;TERF2,upstream_gene_variant,,ENST00000569542,;TERF2,non_coding_transcript_exon_variant,,ENST00000569611,;TERF2,missense_variant,p.Ser57Ala,ENST00000569280,;	C	ENST00000254942	Transcript	missense_variant	461/2983	444/1629	148/542	C/W	tgT/tgG		1		-1	TERF2	HGNC	HGNC:11729	protein_coding	YES	CCDS10879.2	ENSP00000254942	Q15554		UPI0000EE5A05	NM_005652.4	deleterious(0.04)		2/10		hmmpanther:PTHR21717:SF13,hmmpanther:PTHR21717,Pfam_domain:PF08558,Gene3D:1.25.40.210,Superfamily_domains:SSF63600,PD014243																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	69385422	69385422	A	C	1	0	0	0	0	1	0	0	0	16181	273	10	5		5	TERF2	16	69385422	Missense_Mutation	SNP	A	C3N-00294_TP	115170	69385422	20952923	1014	14516											
SF3B3	0	.	GRCh38	chr16	70530784	70530784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attggtgtatattttgaacaGagatgctgcagcccgactta	11	13	10	7	1	0	2	0	1	0	1	0	4	0	2	1	1	4	3	1	1	4	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.437G>C	p.Arg146Thr	p.R146T	ENST00000302516	4/26	110	78	32	128	128	0	strelka-varscan-mutect	SF3B3,missense_variant,p.Arg146Thr,ENST00000302516,NM_012426.4;SF3B3,downstream_gene_variant,,ENST00000564899,;SF3B3,downstream_gene_variant,,ENST00000577085,;SF3B3,downstream_gene_variant,,ENST00000566095,;SF3B3,downstream_gene_variant,,ENST00000567654,;SF3B3,downstream_gene_variant,,ENST00000569687,;SNORD111B,downstream_gene_variant,,ENST00000408587,;	C	ENST00000302516	Transcript	missense_variant	648/9720	437/3654	146/1217	R/T	aGa/aCa		1		1	SF3B3	HGNC	HGNC:10770	protein_coding	YES	CCDS10894.1	ENSP00000305790	Q15393		UPI0000167878	NM_012426.4	deleterious(0)		4/26		hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF1,Pfam_domain:PF10433																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	70530784	70530784	G	C	1	0	0	0	0	1	0	0	0	14430	942	33	4		4	SF3B3	16	70530784	Missense_Mutation	SNP	G	C3N-00294_TP	1145362	70530784	19807561	1015	14517											
PHLPP2	0	.	GRCh38	chr16	71658288	71658288	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgtatttccagtcaggtCaaggtcttgtaatgtagcag	10	15	10	6	0	3	0	2	0	1	0	4	0	4	0	1	2	1	4	1	2	4	6	rs761636828		C3N-00294_TP	C3N-00294_NB	C	C																c.2224G>C	p.Asp742His	p.D742H	ENST00000568954	15/19	103	80	23	141	141	0	strelka-varscan-mutect	PHLPP2,missense_variant,p.Asp675His,ENST00000393524,NM_001289003.1;PHLPP2,missense_variant,p.Asp742His,ENST00000568954,NM_015020.3;PHLPP2,missense_variant,p.Asp777His,ENST00000567016,;RP11-432I5.6,intron_variant,,ENST00000567077,;PHLPP2,missense_variant,p.Asp480His,ENST00000568004,;PHLPP2,missense_variant,p.Asp105His,ENST00000564884,;	G	ENST00000568954	Transcript	missense_variant	2603/8317	2224/3972	742/1323	D/H	Gac/Cac	rs761636828	1		-1	PHLPP2	HGNC	HGNC:29149	protein_coding	YES	CCDS32479.1	ENSP00000457991	Q6ZVD8		UPI0000229F5A	NM_015020.3	deleterious(0)		15/19		Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs761636828	.												G	3	3	46	71658288	71658288	C	G	1	0	0	0	0	1	0	0	0	11943	826	29	4		4	PHLPP2	16	71658288	Missense_Mutation	SNP	C	C3N-00294_TP	1127504	71658288	18680057	1016	14518											
ZFHX3	0	.	GRCh38	chr16	72797821	72797821	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgcccgggccttggtttGatgtaacacagacctcatat	8	11	11	11	1	1	2	1	1	0	1	1	2	1	2	3	3	2	3	3	3	2	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4861C>G	p.Gln1621Glu	p.Q1621E	ENST00000268489	9/10	181	156	25	205	204	1	strelka-varscan-mutect	ZFHX3,missense_variant,p.Gln1621Glu,ENST00000268489,NM_006885.3;ZFHX3,missense_variant,p.Gln707Glu,ENST00000397992,NM_001164766.1;	C	ENST00000268489	Transcript	missense_variant	5534/16064	4861/11112	1621/3703	Q/E	Caa/Gaa		1		-1	ZFHX3	HGNC	HGNC:777	protein_coding	YES	CCDS10908.1	ENSP00000268489	Q15911		UPI00001AE937	NM_006885.3	deleterious(0)		9/10		PROSITE_profiles:PS50157,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF84,SMART_domains:SM00451																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	72797821	72797821	G	C	1	0	0	0	0	1	0	0	0	18212	1299	45	4		4	ZFHX3	16	72797821	Missense_Mutation	SNP	G	C3N-00294_TP	1139533	72797821	17540524	1017	14519											
RFWD3	0	.	GRCh38	chr16	74651940	74651940	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctaaaatgacagctccaGattcctctgcctggtcaaca	11	11	6	13	0	3	2	1	1	2	1	5	2	5	2	3	1	3	1	3	1	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.701C>G	p.Ser234Cys	p.S234C	ENST00000361070	3/13	188	153	35	183	183	0	strelka-varscan-mutect	RFWD3,missense_variant,p.Ser234Cys,ENST00000361070,NM_018124.3;RFWD3,missense_variant,p.Ser234Cys,ENST00000571750,;RFWD3,5_prime_UTR_variant,,ENST00000572337,;RFWD3,upstream_gene_variant,,ENST00000575281,;	C	ENST00000361070	Transcript	missense_variant	799/4957	701/2325	234/774	S/C	tCt/tGt		1		-1	RFWD3	HGNC	HGNC:25539	protein_coding	YES	CCDS32486.1	ENSP00000354361	Q6PCD5		UPI0000366B66	NM_018124.3	deleterious(0.01)		3/13		hmmpanther:PTHR16047:SF7,hmmpanther:PTHR16047																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	74651940	74651940	G	C	1	0	0	0	0	1	0	0	0	13435	942	33	4		4	RFWD3	16	74651940	Missense_Mutation	SNP	G	C3N-00294_TP	1854119	74651940	15686405	1018	14520											
RFWD3	0	.	GRCh38	chr16	74661154	74661154	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccctgcctatgttgttctGaagttcttggattgatgttc	6	18	9	8	0	2	2	0	2	2	0	4	3	3	3	2	1	1	4	2	1	2	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.296C>G	p.Ser99Ter	p.S99*	ENST00000361070	2/13	308	265	43	356	356	0	strelka-varscan-mutect	RFWD3,stop_gained,p.Ser99Ter,ENST00000361070,NM_018124.3;RFWD3,stop_gained,p.Ser99Ter,ENST00000571750,;RFWD3,stop_gained,p.Ser99Ter,ENST00000575113,;RFWD3,stop_gained,p.Ser99Ter,ENST00000572990,;RFWD3,stop_gained,p.Ser99Ter,ENST00000576652,;RFWD3,intron_variant,,ENST00000572337,;RFWD3,non_coding_transcript_exon_variant,,ENST00000571776,;RFWD3,non_coding_transcript_exon_variant,,ENST00000575397,;RFWD3,downstream_gene_variant,,ENST00000572840,;	C	ENST00000361070	Transcript	stop_gained	394/4957	296/2325	99/774	S/*	tCa/tGa		1		-1	RFWD3	HGNC	HGNC:25539	protein_coding	YES	CCDS32486.1	ENSP00000354361	Q6PCD5		UPI0000366B66	NM_018124.3			2/13		hmmpanther:PTHR16047:SF7,hmmpanther:PTHR16047																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	46	74661154	74661154	G	C	1	0	0	0	0	0	1	0	0	13435	1294	45	4		4	RFWD3	16	74661154	Nonsense_Mutation	SNP	G	C3N-00294_TP	9214	74661154	15677191	1019	14521											
ADAMTS18	0	.	GRCh38	chr16	77353884	77353884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagacaccccgcctgaggtGtgctgtaatgacaatacatg	11	9	10	11	1	0	3	0	2	0	1	0	3	0	3	3	1	2	2	3	1	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1463C>T	p.Thr488Ile	p.T488I	ENST00000282849	10/23	374	217	157	388	388	0	strelka-varscan-mutect	ADAMTS18,missense_variant,p.Thr488Ile,ENST00000282849,NM_001326358.1,NM_199355.2;ADAMTS18,downstream_gene_variant,,ENST00000449265,;	A	ENST00000282849	Transcript	missense_variant,splice_region_variant	1882/5913	1463/3666	488/1221	T/I	aCa/aTa		1		-1	ADAMTS18	HGNC	HGNC:17110	protein_coding	YES	CCDS10926.1	ENSP00000282849	Q8TE60		UPI0000233610	NM_001326358.1,NM_199355.2	deleterious(0)		10/23		PROSITE_profiles:PS50215,hmmpanther:PTHR13723:SF167,hmmpanther:PTHR13723,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	77353884	77353884	G	A	1	0	0	0	0	1	0	0	0	307	1391	48	3		3	ADAMTS18	16	77353884	Missense_Mutation	SNP	G	C3N-00294_TP	2692730	77353884	12984461	1020	14522											
KCNG4	0	.	GRCh38	chr16	84222261	84222261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggccctccaggattaggtCattgacatcgttcatgagct	8	12	11	10	1	2	2	2	2	0	0	4	3	3	3	2	3	1	2	2	3	1	3			C3N-00294_TP	C3N-00294_NB	C	C																c.1516G>C	p.Asp506His	p.D506H	ENST00000308251	3/3	192	168	24	200	200	0	strelka-varscan-mutect	KCNG4,missense_variant,p.Asp506His,ENST00000308251,NM_172347.2;	G	ENST00000308251	Transcript	missense_variant	1585/5179	1516/1560	506/519	D/H	Gac/Cac	COSM4528157	1		-1	KCNG4	HGNC	HGNC:19697	protein_coding	YES	CCDS10945.1	ENSP00000312129	Q8TDN1	Q547S7	UPI00000557D8	NM_172347.2	tolerated_low_confidence(0.06)		3/3		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF167											1						MODERATE	1	SNV	1		1	1										PASS		rs1401996345	.												G	3	3	46	84222261	84222261	C	G	1	0	0	0	0	1	0	0	0	7946	826	29	4		4	KCNG4	16	84222261	Missense_Mutation	SNP	C	C3N-00294_TP	6868377	84222261	6116084	1021	14523											
FOXC2	0	.	GRCh38	chr16	86568538	86568538	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacccgcaggcgccgccGcccccgccggctccccagcc	4	1	10	26	6	0	0	0	0	0	0	1	0	1	0	10	2	1	2	10	2	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1203G>A	p.=	p.P401P	ENST00000320354	1/1	97	69	28	69	69	0	strelka-varscan-mutect	FOXC2,synonymous_variant,p.=,ENST00000320354,NM_005251.2;FOXC2-AS1,upstream_gene_variant,,ENST00000563280,;	A	ENST00000320354	Transcript	synonymous_variant	1288/2478	1203/1506	401/501	P	ccG/ccA		1		1	FOXC2	HGNC	HGNC:3801	protein_coding	YES	CCDS10958.1	ENSP00000326371	Q99958		UPI000012ADC6	NM_005251.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF189																	LOW		SNV				1										PASS		rs1157761462	.												A	2	1	46	86568538	86568538	G	A	1	0	0	0	0	0	0	0	1	5855	1074	38	1		1	FOXC2	16	86568538	Silent	SNP	G	C3N-00294_TP	2346277	86568538	3769807	1022	14524											
ZNF469	0	.	GRCh38	chr16	88434863	88434863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagagaacggccagtggaagGgccaagctccacatgggcct	11	4	14	12	1	0	1	0	0	0	1	1	3	1	2	4	4	2	1	4	4	3	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.7309G>A	p.Gly2437Ser	p.G2437S	ENST00000437464	2/2	460	273	187	506	506	0	strelka-varscan-mutect	ZNF469,missense_variant,p.Gly2465Ser,ENST00000565624,;ZNF469,missense_variant,p.Gly2437Ser,ENST00000437464,NM_001127464.2;	A	ENST00000437464	Transcript	missense_variant	7309/13203	7309/11778	2437/3925	G/S	Ggc/Agc		1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2	tolerated(0.19)		2/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	88434863	88434863	G	A	1	0	0	0	0	1	0	0	0	18500	1232	43	3		3	ZNF469	16	88434863	Missense_Mutation	SNP	G	C3N-00294_TP	1866325	88434863	1903482	1023	14525											
RPL13	0	.	GRCh38	chr16	89561326	89561326	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccacggttcggtaccacacGaaggtgcgcgccggccgcgg	6	4	15	16	8	0	0	0	0	0	0	1	1	0	0	4	5	2	2	4	5	2	2	rs867542380		C3N-00294_TP	C3N-00294_NB	G	G																c.204G>A	p.=	p.T68T	ENST00000311528	3/6	223	170	53	226	226	0	strelka-varscan-mutect	RPL13,synonymous_variant,p.=,ENST00000311528,NM_001243130.1,NM_000977.3;RPL13,synonymous_variant,p.=,ENST00000393099,NM_033251.2;RPL13,synonymous_variant,p.=,ENST00000452368,NM_001243131.1;RPL13,synonymous_variant,p.=,ENST00000567815,;RPL13,synonymous_variant,p.=,ENST00000467736,;RPL13,5_prime_UTR_variant,,ENST00000563270,;SPG7,downstream_gene_variant,,ENST00000620811,;SPG7,downstream_gene_variant,,ENST00000268704,NM_003119.3;RPL13,upstream_gene_variant,,ENST00000472354,;SNORD68,upstream_gene_variant,,ENST00000363214,;SPG7,downstream_gene_variant,,ENST00000565891,;RPL13,non_coding_transcript_exon_variant,,ENST00000563749,;RPL13,non_coding_transcript_exon_variant,,ENST00000484610,;RPL13,non_coding_transcript_exon_variant,,ENST00000399461,;RPL13,non_coding_transcript_exon_variant,,ENST00000491523,;RPL13,non_coding_transcript_exon_variant,,ENST00000487034,;RPL13,non_coding_transcript_exon_variant,,ENST00000565571,;RPL13,intron_variant,,ENST00000562879,;SPG7,downstream_gene_variant,,ENST00000569820,;SPG7,downstream_gene_variant,,ENST00000561702,;SPG7,downstream_gene_variant,,ENST00000561911,;SPG7,downstream_gene_variant,,ENST00000569720,;RPL13,upstream_gene_variant,,ENST00000570149,;	A	ENST00000311528	Transcript	synonymous_variant	280/4498	204/636	68/211	T	acG/acA	rs867542380	1		1	RPL13	HGNC	HGNC:10303	protein_coding	YES	CCDS10979.1	ENSP00000307889	P26373	A8K4C8	UPI0000001228	NM_001243130.1,NM_000977.3			3/6		Pfam_domain:PF01294,hmmpanther:PTHR11722																	LOW	1	SNV	1			1										PASS		rs867542380	.												A	2	1	46	89561326	89561326	G	A	1	0	0	0	0	0	0	0	1	13811	1045	37	1		1	RPL13	16	89561326	Silent	SNP	G	C3N-00294_TP	1126463	89561326	777019	1024	14526											
DBNDD1	0	.	GRCh38	chr16	90008844	90008844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcaaagacctcggccagctCctggtccgacatgtcggtga	9	7	12	13	3	0	2	0	1	0	1	4	3	2	2	4	3	2	2	4	3	1	0			C3N-00294_TP	C3N-00294_NB	C	C																c.619G>A	p.Glu207Lys	p.E207K	ENST00000568838	3/4	100	75	25	123	123	0	strelka-varscan-mutect	DBNDD1,missense_variant,p.Glu93Lys,ENST00000392973,;DBNDD1,missense_variant,p.Glu107Lys,ENST00000304733,NM_024043.3;DBNDD1,missense_variant,p.Glu87Lys,ENST00000002501,NM_001042610.2;DBNDD1,missense_variant,p.Glu207Lys,ENST00000568838,NM_001288709.1;DBNDD1,upstream_gene_variant,,ENST00000623401,;DBNDD1,3_prime_UTR_variant,,ENST00000568330,;DBNDD1,non_coding_transcript_exon_variant,,ENST00000568662,;	T	ENST00000568838	Transcript	missense_variant	629/993	619/837	207/278	E/K	Gag/Aag	COSM3795246,COSM3795247	1		-1	DBNDD1	HGNC	HGNC:28455	protein_coding	YES	CCDS73931.1	ENSP00000457625	Q9H9R9		UPI00017A7806	NM_001288709.1	deleterious_low_confidence(0)		3/4		Pfam_domain:PF04440,hmmpanther:PTHR16294,hmmpanther:PTHR16294:SF4											1,1						MODERATE	1	SNV	2		1,1	1										PASS		rs1168580181	.												T	3	4	46	90008844	90008844	C	T	1	0	0	0	0	1	0	0	0	4053	864	30	3		3	DBNDD1	16	90008844	Missense_Mutation	SNP	C	C3N-00294_TP	447518	90008844	329501	1025	14527											
SMYD4	0	.	GRCh38	chr17	1786823	1786823	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaattacctgcatgggcgctCcgcaactgttgcaacagaat	11	9	10	11	2	0	1	0	0	0	1	1	2	1	1	2	1	5	5	2	1	5	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1871G>C	p.Gly624Ala	p.G624A	ENST00000305513	7/11	125	96	29	152	152	0	strelka-varscan-mutect	SMYD4,missense_variant,p.Gly624Ala,ENST00000305513,NM_052928.2;SMYD4,missense_variant,p.Gly428Ala,ENST00000491788,;SMYD4,upstream_gene_variant,,ENST00000476292,;	G	ENST00000305513	Transcript	missense_variant	2039/4384	1871/2415	624/804	G/A	gGa/gCa		1		-1	SMYD4	HGNC	HGNC:21067	protein_coding	YES	CCDS11013.1	ENSP00000304360	Q8IYR2		UPI000013EA5C	NM_052928.2	tolerated(0.09)		7/11		hmmpanther:PTHR12197:SF171,hmmpanther:PTHR12197																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	1786823	1786823	C	G	1	0	0	0	0	1	0	0	0	15145	855	30	4		4	SMYD4	17	1786823	Missense_Mutation	SNP	C	C3N-00294_TP		1786823	81470618	1026	14528											
MNT	0	.	GRCh38	chr17	2394091	2394091	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgctcagattggacgtcttCttgtcatccacgttggggat	7	13	11	10	3	4	1	2	0	2	1	5	3	5	3	1	3	0	2	1	3	0	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.759G>C	p.Lys253Asn	p.K253N	ENST00000174618	4/6	343	274	69	274	274	0	strelka-mutect	MNT,missense_variant,p.Lys253Asn,ENST00000174618,NM_020310.2;MNT,intron_variant,,ENST00000575394,;MNT,upstream_gene_variant,,ENST00000575374,;MNT,downstream_gene_variant,,ENST00000574559,;MNT,upstream_gene_variant,,ENST00000572892,;MNT,downstream_gene_variant,,ENST00000571836,;MNT,upstream_gene_variant,,ENST00000571232,;MNT,upstream_gene_variant,,ENST00000575402,;	G	ENST00000174618	Transcript	missense_variant	1165/4996	759/1749	253/582	K/N	aaG/aaC		1		-1	MNT	HGNC	HGNC:7188	protein_coding	YES	CCDS11018.1	ENSP00000174618	Q99583		UPI000012F2C6	NM_020310.2	deleterious(0)		4/6		Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR11969,hmmpanther:PTHR11969:SF15,SMART_domains:SM00353,Superfamily_domains:SSF47459																	MODERATE	1	SNV	1			1										PASS		rs1334834632	.												G	3	3	46	2394091	2394091	C	G	1	0	0	0	0	1	0	0	0	9642	912	32	4		4	MNT	17	2394091	Missense_Mutation	SNP	C	C3N-00294_TP	607268	2394091	80863350	1027	14529											
TP53	0	.	GRCh38	chr17	7673537	7673537	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcccaagacttagtacctGaagggtgaaatattctccat	12	11	9	9	0	1	3	0	2	1	1	3	3	2	3	3	2	1	1	3	2	6	4			C3N-00294_TP	C3N-00294_NB	G	G																c.991C>T	p.Gln331Ter	p.Q331*	ENST00000269305	9/11	282	219	63	375	375	0	strelka-varscan-mutect	TP53,stop_gained,p.Gln331Ter,ENST00000617185,NM_001126114.2;TP53,stop_gained,p.Gln331Ter,ENST00000420246,;TP53,stop_gained,p.Gln292Ter,ENST00000622645,NM_001276696.1;TP53,stop_gained,p.Gln292Ter,ENST00000610292,NM_001126118.1;TP53,stop_gained,p.Gln331Ter,ENST00000455263,NM_001126113.2;TP53,stop_gained,p.Gln292Ter,ENST00000610538,NM_001276695.1;TP53,stop_gained,p.Gln331Ter,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,stop_gained,p.Gln292Ter,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,stop_gained,p.Gln331Ter,ENST00000445888,;TP53,stop_gained,p.Gln292Ter,ENST00000619485,;TP53,stop_gained,p.Gln199Ter,ENST00000510385,NM_001126116.1;TP53,stop_gained,p.Gln172Ter,ENST00000618944,NM_001276698.1;TP53,stop_gained,p.Gln199Ter,ENST00000504290,NM_001126117.1;TP53,stop_gained,p.Gln172Ter,ENST00000610623,NM_001276699.1;TP53,stop_gained,p.Gln199Ter,ENST00000504937,NM_001126115.1;TP53,stop_gained,p.Gln172Ter,ENST00000619186,NM_001276697.1;TP53,stop_gained,p.Gln331Ter,ENST00000359597,;TP53,stop_gained,p.Gln320Ter,ENST00000615910,;TP53,stop_gained,p.Gln199Ter,ENST00000509690,;TP53,stop_gained,p.Gln18Ter,ENST00000576024,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,stop_gained,p.Gln292Ter,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	stop_gained,splice_region_variant	1181/2579	991/1182	331/393	Q/*	Cag/Tag	TP53_g.14063C>G,TP53_g.14063C>T,TP53_g.14063del,COSM11354,COSM1649348,COSM289612,COSM3522688	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5			9/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:1olgA00,Pfam_domain:PF07710,Superfamily_domains:SSF47719,Prints_domain:PR00386											0,0,0,1,1,1,1						HIGH	1	SNV	1		0,0,0,1,1,1,1	1										PASS		.	.												A	4	1	46	7673537	7673537	G	A	1	0	0	0	0	0	1	0	0	16859	1304	45	3		3	TP53	17	7673537	Nonsense_Mutation	SNP	G	C3N-00294_TP	5279446	7673537	75583904	1028	14530											
DNAH2	0	.	GRCh38	chr17	7719750	7719750	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacgatgtccagcaaagctGagaagaagcagcgattgagt	14	6	13	8	2	0	3	0	2	0	2	1	6	1	3	1	0	4	4	1	0	3	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.16G>C	p.Glu6Gln	p.E6Q	ENST00000572933	2/86	160	126	34	221	221	0	strelka-varscan-mutect	DNAH2,missense_variant,p.Glu6Gln,ENST00000572933,NM_020877.3;DNAH2,missense_variant,p.Glu6Gln,ENST00000389173,;DNAH2,missense_variant,p.Glu6Gln,ENST00000570791,NM_001303270.1;	C	ENST00000572933	Transcript	missense_variant	1476/14955	16/13284	6/4427	E/Q	Gag/Cag		1		1	DNAH2	HGNC	HGNC:2948	protein_coding	YES	CCDS32551.1	ENSP00000458355	Q9P225		UPI00005B2F0D	NM_020877.3	deleterious_low_confidence(0.04)		2/86		hmmpanther:PTHR10676:SF183,hmmpanther:PTHR10676																	MODERATE	1	SNV	1			1										PASS		rs763783888	.												C	3	2	46	7719750	7719750	G	C	1	0	0	0	0	1	0	0	0	4417	1291	45	4		4	DNAH2	17	7719750	Missense_Mutation	SNP	G	C3N-00294_TP	46213	7719750	75537691	1029	14531											
DNAH2	0	.	GRCh38	chr17	7833469	7833469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcattgacctgcggtctgGggccatgacacctgatcatt	7	10	12	12	2	2	3	1	3	1	0	2	3	2	3	3	4	1	1	3	4	0	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.13220G>T	p.Gly4407Val	p.G4407V	ENST00000572933	86/86	148	110	38	226	226	0	strelka-varscan-mutect	DNAH2,missense_variant,p.Gly4407Val,ENST00000572933,NM_020877.3;DNAH2,missense_variant,p.Gly4407Val,ENST00000389173,;DNAH2,downstream_gene_variant,,ENST00000575105,;	T	ENST00000572933	Transcript	missense_variant	14680/14955	13220/13284	4407/4427	G/V	gGg/gTg		1		1	DNAH2	HGNC	HGNC:2948	protein_coding	YES	CCDS32551.1	ENSP00000458355	Q9P225		UPI00005B2F0D	NM_020877.3	deleterious(0)		86/86		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF03028																	MODERATE	1	SNV	1			1										PASS		rs1053578905	.												T	3	4	46	7833469	7833469	G	T	1	0	0	0	0	1	0	0	0	4417	1232	43	2		2	DNAH2	17	7833469	Missense_Mutation	SNP	G	C3N-00294_TP	113719	7833469	75423972	1030	14532											
DNAH9	0	.	GRCh38	chr17	11690232	11690232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgaggacctcatagaGgttctggaggataatcaagt	12	11	12	6	0	4	3	2	2	2	1	4	6	4	6	1	4	0	1	1	4	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4410G>T	p.Glu1470Asp	p.E1470D	ENST00000262442	20/69	234	218	16	279	279	0	strelka-varscan-mutect	DNAH9,missense_variant,p.Glu1470Asp,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Glu1470Asp,ENST00000454412,;	T	ENST00000262442	Transcript	missense_variant	4478/13750	4410/13461	1470/4486	E/D	gaG/gaT		1		1	DNAH9	HGNC	HGNC:2953	protein_coding	YES	CCDS11160.1	ENSP00000262442	Q9NYC9		UPI0000141BA2	NM_001372.3	deleterious(0.01)		20/69		Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	11690232	11690232	G	T	1	0	0	0	0	1	0	0	0	4423	991	35	2		2	DNAH9	17	11690232	Missense_Mutation	SNP	G	C3N-00294_TP	3856763	11690232	71567209	1031	14533											
CENPV	0	.	GRCh38	chr17	16353372	16353372	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggaggccgcgggggccGcggaggccccggaccgcttc	3	2	19	17	8	0	0	0	0	0	0	1	3	0	3	6	7	0	1	6	7	0	1	rs149829221		C3N-00294_TP	C3N-00294_NB	G	G																c.65C>G	p.Ala22Gly	p.A22G	ENST00000299736	1/5	31	24	7	23	23	0	varscan-mutect	CENPV,missense_variant,p.Ala22Gly,ENST00000299736,NM_181716.2;PIGL,downstream_gene_variant,,ENST00000581006,;PIGL,downstream_gene_variant,,ENST00000613719,;CENPV,upstream_gene_variant,,ENST00000631687,;CENPV,missense_variant,p.Ala22Gly,ENST00000476243,;CENPV,non_coding_transcript_exon_variant,,ENST00000584214,;CENPV,intron_variant,,ENST00000582062,;CENPV,upstream_gene_variant,,ENST00000482983,;	C	ENST00000299736	Transcript	missense_variant	128/1165	65/819	22/272	A/G	gCg/gGg	rs149829221	1		-1	CENPV	HGNC	HGNC:29920	protein_coding	YES	CCDS32575.1	ENSP00000299736	Q7Z7K6		UPI000015FC7D	NM_181716.2	tolerated_low_confidence(0.67)		1/5		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs149829221	.												C	3	2	46	16353372	16353372	G	C	1	0	0	0	0	1	0	0	0	2952	1087	38	4		4	CENPV	17	16353372	Missense_Mutation	SNP	G	C3N-00294_TP	4663140	16353372	66904069	1032	14534											
RAI1	0	.	GRCh38	chr17	17794101	17794101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccggggccttccccgcaGggatcactgaccacagccac	8	4	11	18	2	1	1	1	1	0	0	2	2	2	2	6	3	1	2	6	3	0	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1153G>A	p.Gly385Arg	p.G385R	ENST00000353383	3/6	209	193	16	281	281	0	strelka-varscan-mutect	RAI1,missense_variant,p.Gly385Arg,ENST00000353383,NM_030665.3;RAI1,missense_variant,p.Gly385Arg,ENST00000395774,;RAI1,downstream_gene_variant,,ENST00000471135,;RAI1,upstream_gene_variant,,ENST00000583166,;	A	ENST00000353383	Transcript	missense_variant	1622/7662	1153/5721	385/1906	G/R	Ggg/Agg		1		1	RAI1	HGNC	HGNC:9834	protein_coding	YES	CCDS11188.1	ENSP00000323074	Q7Z5J4		UPI0000200AAF	NM_030665.3	deleterious(0)		3/6		hmmpanther:PTHR14955:SF6,hmmpanther:PTHR14955																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	17794101	17794101	G	A	1	0	0	0	0	1	0	0	0	13166	1000	35	3		3	RAI1	17	17794101	Missense_Mutation	SNP	G	C3N-00294_TP	1440729	17794101	65463340	1033	14535											
FAM83G	0	.	GRCh38	chr17	19003780	19003780	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccattgtcctcgggcccctGagaggggcccgtgccccgag	4	6	14	17	3	0	1	0	1	0	1	2	3	1	1	7	3	1	0	7	3	0	1			C3N-00294_TP	C3N-00294_NB	G	G																c.262C>T	p.Gln88Ter	p.Q88*	ENST00000388995	2/6	152	108	44	207	207	0	strelka-varscan-mutect	FAM83G,stop_gained,p.Gln88Ter,ENST00000388995,NM_001039999.2;FAM83G,stop_gained,p.Gln88Ter,ENST00000345041,;SLC5A10,intron_variant,,ENST00000317977,NM_001282417.1;SLC5A10,intron_variant,,ENST00000395647,NM_152351.4;SLC5A10,intron_variant,,ENST00000395645,NM_001042450.2;SLC5A10,intron_variant,,ENST00000417251,NM_001270649.1;SLC5A10,intron_variant,,ENST00000395643,NM_001270648.1;FAM83G,non_coding_transcript_exon_variant,,ENST00000399096,;	A	ENST00000388995	Transcript	stop_gained	486/5266	262/2472	88/823	Q/*	Cag/Tag	COSM1302480,COSM5327212	1		-1	FAM83G	HGNC	HGNC:32554	protein_coding	YES	CCDS42276.1	ENSP00000373647	A6ND36		UPI0000E03260	NM_001039999.2			2/6		hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF5,Pfam_domain:PF07894											1,1						HIGH		SNV	5		1,1	1										PASS		rs969896084	.												A	4	1	46	19003780	19003780	G	A	1	0	0	0	0	0	1	0	0	5497	1299	45	3		3	FAM83G	17	19003780	Nonsense_Mutation	SNP	G	C3N-00294_TP	1209679	19003780	64253661	1034	14536											
KIAA0100	0	.	GRCh38	chr17	28619969	28619969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgctcctctggattgctaGagatctcaagctggaacctg	8	12	11	10	0	2	1	1	0	2	1	4	4	3	3	2	2	4	4	2	2	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.5411C>G	p.Ser1804Cys	p.S1804C	ENST00000528896	30/39	147	120	27	140	139	1	strelka-varscan-mutect	KIAA0100,missense_variant,p.Ser1804Cys,ENST00000528896,NM_014680.3;KIAA0100,missense_variant,p.Ser1661Cys,ENST00000544884,;KIAA0100,missense_variant,p.Ser1661Cys,ENST00000389003,;SPAG5-AS1,downstream_gene_variant,,ENST00000414744,;SPAG5-AS1,downstream_gene_variant,,ENST00000424210,;SPAG5-AS1,downstream_gene_variant,,ENST00000554154,;KIAA0100,upstream_gene_variant,,ENST00000579924,;KIAA0100,non_coding_transcript_exon_variant,,ENST00000580395,;SPAG5-AS1,downstream_gene_variant,,ENST00000584675,;KIAA0100,upstream_gene_variant,,ENST00000583860,;	C	ENST00000528896	Transcript	missense_variant	5486/7407	5411/6708	1804/2235	S/C	tCt/tGt		1		-1	KIAA0100	HGNC	HGNC:28960	protein_coding	YES	CCDS32595.1	ENSP00000436773	Q14667		UPI00004B4130	NM_014680.3	tolerated(0.06)		30/39		hmmpanther:PTHR15678,Pfam_domain:PF10351																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	28619969	28619969	G	C	1	0	0	0	0	1	0	0	0	8074	942	33	4		4	KIAA0100	17	28619969	Missense_Mutation	SNP	G	C3N-00294_TP	9616189	28619969	54637472	1035	14537											
KIAA0100	0	.	GRCh38	chr17	28637016	28637016	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggagagcatggaaaggctGagcactggggtagggatgtc	11	7	18	5	0	0	2	0	1	0	1	1	5	0	4	0	6	2	4	0	6	2	1			C3N-00294_TP	C3N-00294_NB	G	G																c.1926C>G	p.=	p.L642L	ENST00000528896	15/39	467	403	64	402	402	0	strelka-varscan-mutect	KIAA0100,synonymous_variant,p.=,ENST00000528896,NM_014680.3;KIAA0100,synonymous_variant,p.=,ENST00000544884,;KIAA0100,synonymous_variant,p.=,ENST00000389003,;KIAA0100,upstream_gene_variant,,ENST00000577261,;RP11-192H23.7,downstream_gene_variant,,ENST00000577814,;RP11-192H23.7,downstream_gene_variant,,ENST00000583787,;KIAA0100,downstream_gene_variant,,ENST00000577417,;KIAA0100,downstream_gene_variant,,ENST00000580882,;KIAA0100,downstream_gene_variant,,ENST00000583403,;KIAA0100,downstream_gene_variant,,ENST00000577580,;KIAA0100,upstream_gene_variant,,ENST00000582417,;KIAA0100,upstream_gene_variant,,ENST00000581064,;KIAA0100,downstream_gene_variant,,ENST00000581267,;KIAA0100,downstream_gene_variant,,ENST00000579253,;	C	ENST00000528896	Transcript	synonymous_variant	2001/7407	1926/6708	642/2235	L	ctC/ctG	COSM3795383,COSM3795384	1		-1	KIAA0100	HGNC	HGNC:28960	protein_coding	YES	CCDS32595.1	ENSP00000436773	Q14667		UPI00004B4130	NM_014680.3			15/39		hmmpanther:PTHR15678,Pfam_domain:PF10344											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												C	2	2	46	28637016	28637016	G	C	1	0	0	0	0	0	0	0	1	8074	1277	45	4		4	KIAA0100	17	28637016	Silent	SNP	G	C3N-00294_TP	17047	28637016	54620425	1036	14538											
CORO6	0	.	GRCh38	chr17	29617522	29617522	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtcccacaggcccagctctCgctggctcatgcgggtgaag	6	7	14	14	2	2	1	1	1	1	0	4	1	3	1	2	4	2	3	2	4	1	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.731G>C	p.Arg244Pro	p.R244P	ENST00000345068	6/11	99	73	26	78	78	0	strelka-varscan-mutect	CORO6,missense_variant,p.Arg244Pro,ENST00000345068,;CORO6,missense_variant,p.Arg244Pro,ENST00000388767,NM_032854.3;CORO6,intron_variant,,ENST00000580212,;CORO6,intron_variant,,ENST00000584969,;ANKRD13B,downstream_gene_variant,,ENST00000394859,NM_152345.4;ANKRD13B,downstream_gene_variant,,ENST00000614878,;CORO6,downstream_gene_variant,,ENST00000492276,;CORO6,downstream_gene_variant,,ENST00000584602,;ANKRD13B,downstream_gene_variant,,ENST00000579719,;ABHD15-AS1,intron_variant,,ENST00000581474,;RP11-68I3.10,downstream_gene_variant,,ENST00000582367,;CORO6,intron_variant,,ENST00000577909,;CORO6,non_coding_transcript_exon_variant,,ENST00000459686,;CORO6,non_coding_transcript_exon_variant,,ENST00000467534,;CORO6,non_coding_transcript_exon_variant,,ENST00000469090,;CORO6,intron_variant,,ENST00000480954,;ANKRD13B,downstream_gene_variant,,ENST00000487527,;ANKRD13B,downstream_gene_variant,,ENST00000488766,;ANKRD13B,downstream_gene_variant,,ENST00000493506,;CORO6,upstream_gene_variant,,ENST00000579388,;	G	ENST00000345068	Transcript	missense_variant	945/2603	731/1419	244/472	R/P	cGa/cCa		1		-1	CORO6	HGNC	HGNC:21356	protein_coding	YES	CCDS11252.2	ENSP00000344562	Q6QEF8		UPI0000DA4C55		deleterious(0.01)		6/11		hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF23,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE		SNV	5			1										PASS		rs1447995407	.												G	3	3	46	29617522	29617522	C	G	1	0	0	0	0	1	0	0	0	3552	884	31	4		4	CORO6	17	29617522	Missense_Mutation	SNP	C	C3N-00294_TP	980506	29617522	53639919	1037	14539											
SSH2	0	.	GRCh38	chr17	29632568	29632568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catccctgagccctggagctCttgttccccctcagctggtt	4	12	9	16	0	2	1	1	1	1	0	4	2	4	2	4	2	3	4	4	2	0	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2626G>A	p.Glu876Lys	p.E876K	ENST00000540801	16/16	201	147	54	208	208	0	strelka-varscan-mutect	SSH2,missense_variant,p.Glu849Lys,ENST00000269033,NM_033389.3;SSH2,missense_variant,p.Glu876Lys,ENST00000540801,NM_001282129.1;SSH2,upstream_gene_variant,,ENST00000577991,;ABHD15-AS1,intron_variant,,ENST00000581474,;	T	ENST00000540801	Transcript	missense_variant	2719/4538	2626/4353	876/1450	E/K	Gag/Aag		1		-1	SSH2	HGNC	HGNC:30580	protein_coding	YES	CCDS74024.1	ENSP00000444743		F5H527	UPI0002065A97	NM_001282129.1	deleterious_low_confidence(0)		16/16		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	46	29632568	29632568	C	T	1	0	0	0	0	1	0	0	0	15561	922	32	3		3	SSH2	17	29632568	Missense_Mutation	SNP	C	C3N-00294_TP	15046	29632568	53624873	1038	14540											
ATAD5	0	.	GRCh38	chr17	30878024	30878024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatgtaatttttgatgaaGatgctgggtttttgaatgca	10	18	11	2	0	0	5	0	4	0	1	0	5	0	5	0	1	2	4	0	1	3	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3940G>A	p.Asp1314Asn	p.D1314N	ENST00000321990	17/23	67	58	9	149	148	1	strelka-varscan-mutect	ATAD5,missense_variant,p.Asp1314Asn,ENST00000321990,NM_024857.4;ATAD5,downstream_gene_variant,,ENST00000578295,;	A	ENST00000321990	Transcript	missense_variant	4318/6869	3940/5535	1314/1844	D/N	Gat/Aat		1		1	ATAD5	HGNC	HGNC:25752	protein_coding	YES	CCDS11260.1	ENSP00000313171	Q96QE3		UPI0000071E9E	NM_024857.4	deleterious(0)		17/23		hmmpanther:PTHR23389:SF6,hmmpanther:PTHR23389,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	30878024	30878024	G	A	1	0	0	0	0	1	0	0	0	1224	942	33	3		3	ATAD5	17	30878024	Missense_Mutation	SNP	G	C3N-00294_TP	1245456	30878024	52379417	1039	14541											
NF1	0	.	GRCh38	chr17	31159046	31159046	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctgaaaaaaatttatatCtctctcagttgattatattg	13	17	5	6	0	2	2	1	2	2	0	4	2	2	2	0	0	1	2	0	0	7	7	rs587782772		C3N-00294_TP	C3N-00294_NB	C	C																c.241C>G	p.Leu81Val	p.L81V	ENST00000358273	3/58	141	114	27	202	202	0	strelka-varscan-mutect	NF1,missense_variant,p.Leu81Val,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Leu81Val,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Leu81Val,ENST00000431387,NM_001128147.2;NF1,missense_variant,p.Leu14Val,ENST00000489712,;NF1,missense_variant,p.Leu115Val,ENST00000579081,;NF1,missense_variant,p.Leu42Val,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;NF1,upstream_gene_variant,,ENST00000490416,;	G	ENST00000358273	Transcript	missense_variant	624/12425	241/8520	81/2839	L/V	Ctc/Gtc	rs587782772,COSM1520784,COSM1520785	1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2	deleterious(0.04)		3/58												uncertain_significance	0,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs587782772	.												G	3	3	46	31159046	31159046	C	G	1	0	0	0	0	1	0	0	0	10393	913	32	4		4	NF1	17	31159046	Missense_Mutation	SNP	C	C3N-00294_TP	281022	31159046	52098395	1040	14542											
MIEN1	0	.	GRCh38	chr17	39730475	39730475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagggggcgctacggacgtCtgccccggctccccgctcat	4	6	15	16	5	2	0	1	0	1	0	3	2	3	2	4	5	2	3	4	5	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.21G>C	p.Gln7His	p.Q7H	ENST00000394231	1/4	246	206	40	166	166	0	strelka-varscan-mutect	MIEN1,missense_variant,p.Gln7His,ENST00000394231,NM_032339.3;MIEN1,missense_variant,p.Gln7His,ENST00000577810,;ERBB2,downstream_gene_variant,,ENST00000584601,NM_001005862.2;ERBB2,downstream_gene_variant,,ENST00000406381,;ERBB2,downstream_gene_variant,,ENST00000269571,NM_004448.3;ERBB2,downstream_gene_variant,,ENST00000541774,NM_001289936.1;ERBB2,downstream_gene_variant,,ENST00000584450,NM_001289937.1;ERBB2,downstream_gene_variant,,ENST00000445658,;MIR4728,downstream_gene_variant,,ENST00000580969,;MIEN1,non_coding_transcript_exon_variant,,ENST00000474210,;ERBB2,downstream_gene_variant,,ENST00000584888,;MIEN1,non_coding_transcript_exon_variant,,ENST00000582963,;MIEN1,non_coding_transcript_exon_variant,,ENST00000498164,;MIEN1,non_coding_transcript_exon_variant,,ENST00000469568,;ERBB2,downstream_gene_variant,,ENST00000583038,;ERBB2,downstream_gene_variant,,ENST00000578373,;	G	ENST00000394231	Transcript	missense_variant	313/1006	21/348	7/115	Q/H	caG/caC		1		-1	MIEN1	HGNC	HGNC:28230	protein_coding	YES	CCDS11344.1	ENSP00000377778	Q9BRT3		UPI0000043728	NM_032339.3	tolerated_low_confidence(0.11)		1/4		hmmpanther:PTHR15124,hmmpanther:PTHR15124:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	39730475	39730475	C	G	1	0	0	0	0	1	0	0	0	9542	912	32	4		4	MIEN1	17	39730475	Missense_Mutation	SNP	C	C3N-00294_TP	8571429	39730475	43526966	1041	14543											
IGFBP4	0	.	GRCh38	chr17	40453945	40453945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccccagggctcctgccaGagcgagctgcaccgggcgct	6	4	14	17	3	0	1	0	0	0	1	1	2	1	1	5	2	5	4	5	2	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.525G>A	p.=	p.Q175Q	ENST00000269593	3/4	128	99	29	136	136	0	strelka-varscan-mutect	IGFBP4,synonymous_variant,p.=,ENST00000269593,NM_001552.2;	A	ENST00000269593	Transcript	synonymous_variant	800/2200	525/777	175/258	Q	caG/caA		1		1	IGFBP4	HGNC	HGNC:5473	protein_coding	YES	CCDS11367.1	ENSP00000269593	P22692	A0A024R1U8	UPI0000035977	NM_001552.2			3/4		Gene3D:4.10.800.10,Pfam_domain:PF00086,Prints_domain:PR01976,PROSITE_profiles:PS51162,hmmpanther:PTHR11551,hmmpanther:PTHR11551:SF7,Superfamily_domains:SSF57610																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	40453945	40453945	G	A	1	0	0	0	0	0	0	0	1	7487	933	33	3		3	IGFBP4	17	40453945	Silent	SNP	G	C3N-00294_TP	723470	40453945	42803496	1042	14544											
KRT26	0	.	GRCh38	chr17	40772055	40772055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcctccaccggacagcCtaccagacccagttcgcgag	8	7	9	17	3	0	1	0	0	0	1	3	3	2	2	6	1	2	2	6	1	1	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.59G>A	p.Arg20Lys	p.R20K	ENST00000335552	1/8	257	206	51	263	262	1	strelka-varscan-mutect	KRT26,missense_variant,p.Arg20Lys,ENST00000335552,NM_181539.4;KRT27,downstream_gene_variant,,ENST00000301656,NM_181537.3;KRT27,downstream_gene_variant,,ENST00000540723,;	T	ENST00000335552	Transcript	missense_variant	108/1733	59/1407	20/468	R/K	aGg/aAg		1		-1	KRT26	HGNC	HGNC:30840	protein_coding	YES	CCDS11374.1	ENSP00000334798	Q7Z3Y9		UPI0000200C8F	NM_181539.4	deleterious(0.04)		1/8		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF162,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	40772055	40772055	C	T	1	0	0	0	0	1	0	0	0	8345	681	24	3		3	KRT26	17	40772055	Missense_Mutation	SNP	C	C3N-00294_TP	318110	40772055	42485386	1043	14545											
KRTAP4-3	0	.	GRCh38	chr17	41167631	41167631	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggggtggaagcaggttgttCtacagcaggtggtcgggcag	7	9	19	6	1	1	0	0	0	1	0	2	1	1	1	0	7	3	5	0	7	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.542G>C	p.Arg181Thr	p.R181T	ENST00000391356	1/1	95	78	17	81	81	0	strelka-varscan-mutect	KRTAP4-3,missense_variant,p.Arg181Thr,ENST00000391356,NM_033187.1;	G	ENST00000391356	Transcript	missense_variant	564/964	542/588	181/195	R/T	aGa/aCa		1		-1	KRTAP4-3	HGNC	HGNC:18908	protein_coding	YES	CCDS42331.1	ENSP00000375151	Q9BYR4		UPI00006C17BA	NM_033187.1	tolerated(0.19)		1/1		hmmpanther:PTHR23262:SF73,hmmpanther:PTHR23262																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	46	41167631	41167631	C	G	1	0	0	0	0	1	0	0	0	8446	913	32	4		4	KRTAP4-3	17	41167631	Missense_Mutation	SNP	C	C3N-00294_TP	395576	41167631	42089810	1044	14546											
KRTAP9-4	0	.	GRCh38	chr17	41250151	41250151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgcttccagcccacctGtgtgtccagctgctgtcagc	5	11	9	16	0	1	0	1	0	0	0	3	0	3	0	4	0	5	3	4	0	0	2	rs761233657		C3N-00294_TP	C3N-00294_NB	G	G																c.431G>A	p.Cys144Tyr	p.C144Y	ENST00000334109	1/1	376	310	66	363	363	0	strelka-varscan-mutect	KRTAP9-4,missense_variant,p.Cys144Tyr,ENST00000334109,NM_033191.2;	A	ENST00000334109	Transcript	missense_variant	465/967	431/465	144/154	C/Y	tGt/tAt	rs761233657	1		1	KRTAP9-4	HGNC	HGNC:18902	protein_coding	YES	CCDS11386.1	ENSP00000334922	Q9BYQ2		UPI000013F6DA	NM_033191.2	deleterious(0)		1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF65,Pfam_domain:PF13885																	MODERATE	1	SNV				1										PASS		rs761233657	.												A	3	1	46	41250151	41250151	G	A	1	0	0	0	0	1	0	0	0	8472	1377	48	3		3	KRTAP9-4	17	41250151	Missense_Mutation	SNP	G	C3N-00294_TP	82520	41250151	42007290	1045	14547											
ETV4	0	.	GRCh38	chr17	43545340	43545340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcgggccgatcagcgcttCgcgcaagctcccatttccgg	6	7	12	16	6	1	0	1	0	0	0	4	1	3	0	3	2	3	3	3	2	1	2	rs776306922		C3N-00294_TP	C3N-00294_NB	C	C																c.88G>A	p.Glu30Lys	p.E30K	ENST00000319349	3/13	84	65	19	79	79	0	strelka-varscan-mutect	ETV4,missense_variant,p.Glu30Lys,ENST00000319349,NM_001079675.2;ETV4,missense_variant,p.Glu30Lys,ENST00000393664,;ETV4,missense_variant,p.Glu30Lys,ENST00000591713,NM_001986.2;ETV4,missense_variant,p.Glu30Lys,ENST00000545089,;ETV4,5_prime_UTR_variant,,ENST00000538265,NM_001261438.1;ETV4,5_prime_UTR_variant,,ENST00000545954,NM_001261437.1;ETV4,5_prime_UTR_variant,,ENST00000586764,;DHX8,downstream_gene_variant,,ENST00000589898,;RP11-392O1.4,intron_variant,,ENST00000588996,;ETV4,non_coding_transcript_exon_variant,,ENST00000585508,;ETV4,non_coding_transcript_exon_variant,,ENST00000590236,;ETV4,non_coding_transcript_exon_variant,,ENST00000587151,;	T	ENST00000319349	Transcript	missense_variant	387/2429	88/1455	30/484	E/K	Gaa/Aaa	rs776306922,COSM5436797	1		-1	ETV4	HGNC	HGNC:3493	protein_coding	YES	CCDS11465.1	ENSP00000321835	P43268		UPI0000000236	NM_001079675.2	tolerated(0.71)		3/13		hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF181,Pfam_domain:PF04621											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs776306922	.												T	3	4	46	43545340	43545340	C	T	1	0	0	0	0	1	0	0	0	5145	893	31	1		1	ETV4	17	43545340	Missense_Mutation	SNP	C	C3N-00294_TP	2295189	43545340	39712101	1046	14548											
HDAC5	0	.	GRCh38	chr17	44093422	44093422	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgccgctgctgctccagctCctgctgccgcttggctgcca	2	10	11	18	2	0	0	0	0	0	0	2	0	2	0	5	1	7	7	5	1	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.421G>C	p.Glu141Gln	p.E141Q	ENST00000225983	5/27	145	122	23	113	113	0	strelka-varscan-mutect	HDAC5,missense_variant,p.Glu141Gln,ENST00000225983,NM_001015053.1;HDAC5,missense_variant,p.Glu140Gln,ENST00000336057,;HDAC5,missense_variant,p.Glu140Gln,ENST00000586802,NM_005474.4;HDAC5,upstream_gene_variant,,ENST00000588261,;HDAC5,downstream_gene_variant,,ENST00000591714,;HDAC5,downstream_gene_variant,,ENST00000587135,;HDAC5,downstream_gene_variant,,ENST00000588703,;HDAC5,non_coding_transcript_exon_variant,,ENST00000587776,;HDAC5,upstream_gene_variant,,ENST00000592385,;	G	ENST00000225983	Transcript	missense_variant	745/5326	421/3372	141/1123	E/Q	Gag/Cag		1		-1	HDAC5	HGNC	HGNC:14068	protein_coding	YES	CCDS32663.1	ENSP00000225983	Q9UQL6		UPI0000508BBA	NM_001015053.1	tolerated(0.48)		5/27		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12203,PIRSF_domain:PIRSF037911																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	46	44093422	44093422	C	G	1	0	0	0	0	1	0	0	0	6897	864	30	4		4	HDAC5	17	44093422	Missense_Mutation	SNP	C	C3N-00294_TP	548082	44093422	39164019	1047	14549											
UBTF	0	.	GRCh38	chr17	44207307	44207307	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagctgctgccctcggactCattatcttcatcctcatcgt	6	13	8	14	2	4	0	3	0	1	0	7	2	5	2	2	2	3	2	2	2	1	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2230G>C	p.Glu744Gln	p.E744Q	ENST00000302904	21/21	255	207	48	208	208	0	strelka-varscan-mutect	UBTF,missense_variant,p.Glu744Gln,ENST00000302904,;UBTF,missense_variant,p.Glu707Gln,ENST00000343638,NM_001076683.1;UBTF,missense_variant,p.Glu707Gln,ENST00000533177,;UBTF,missense_variant,p.Met705Ile,ENST00000527034,;UBTF,missense_variant,p.Glu744Gln,ENST00000436088,NM_014233.3;UBTF,missense_variant,p.Glu707Gln,ENST00000393606,NM_001076684.2;UBTF,missense_variant,p.Glu744Gln,ENST00000529383,;UBTF,missense_variant,p.Glu707Gln,ENST00000526094,;UBTF,downstream_gene_variant,,ENST00000529373,;MIR6782,downstream_gene_variant,,ENST00000619539,;CTB-175E5.7,intron_variant,,ENST00000586560,;UBTF,downstream_gene_variant,,ENST00000529947,;UBTF,downstream_gene_variant,,ENST00000529042,;UBTF,downstream_gene_variant,,ENST00000531368,;	G	ENST00000302904	Transcript	missense_variant	2723/4997	2230/2295	744/764	E/Q	Gag/Cag		1		-1	UBTF	HGNC	HGNC:12511	protein_coding	YES	CCDS11480.1	ENSP00000302640	P17480		UPI000013797C				21/21		Low_complexity_(Seg):seg,hmmpanther:PTHR13711:SF216,hmmpanther:PTHR13711																	MODERATE	1	SNV	2			1										PASS		rs1264175938	.												G	3	3	46	44207307	44207307	C	G	1	0	0	0	0	1	0	0	0	17433	835	29	4		4	UBTF	17	44207307	Missense_Mutation	SNP	C	C3N-00294_TP	113885	44207307	39050134	1048	14550											
GPATCH8	0	.	GRCh38	chr17	44503356	44503356	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtcttcgttgaagcgggaGaagcggtccgccattttgcc	6	10	14	11	5	1	2	0	1	1	1	3	3	2	2	3	3	3	1	3	3	2	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.15C>T	p.=	p.F5F	ENST00000591680	1/8	696	579	117	620	620	0	strelka-varscan-mutect	GPATCH8,synonymous_variant,p.=,ENST00000591680,NM_001304939.1,NM_001002909.3;GPATCH8,synonymous_variant,p.=,ENST00000585614,;GPATCH8,synonymous_variant,p.=,ENST00000587228,;GPATCH8,synonymous_variant,p.=,ENST00000590041,;GPATCH8,synonymous_variant,p.=,ENST00000592746,;GPATCH8,synonymous_variant,p.=,ENST00000586037,;GPATCH8,non_coding_transcript_exon_variant,,ENST00000592154,;GPATCH8,non_coding_transcript_exon_variant,,ENST00000588554,;	A	ENST00000591680	Transcript	synonymous_variant	46/4692	15/4509	5/1502	F	ttC/ttT		1		-1	GPATCH8	HGNC	HGNC:29066	protein_coding	YES	CCDS32666.1	ENSP00000467556	Q9UKJ3		UPI0000237985	NM_001304939.1,NM_001002909.3			1/8																			LOW	1	SNV	2			1										PASS		.	.												A	2	1	46	44503356	44503356	G	A	1	0	0	0	0	0	0	0	1	6495	933	33	3		3	GPATCH8	17	44503356	Silent	SNP	G	C3N-00294_TP	296049	44503356	38754085	1049	14551											
MAPT	0	.	GRCh38	chr17	46018653	46018653	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtaaaatctgagaagcttGacttcaaggacagagtccag	16	8	10	7	0	2	3	1	2	1	2	3	5	3	4	1	1	1	2	1	1	5	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2038G>C	p.Asp680His	p.D680H	ENST00000344290	14/15	458	390	68	360	360	0	strelka-varscan-mutect	MAPT,missense_variant,p.Asp680His,ENST00000344290,NM_001123066.3;MAPT,missense_variant,p.Asp662His,ENST00000262410,NM_016835.4;MAPT,missense_variant,p.Asp345His,ENST00000351559,NM_005910.5;MAPT,missense_variant,p.Asp316His,ENST00000340799,NM_001123067.3;MAPT,missense_variant,p.Asp314His,ENST00000535772,NM_001203251.1,NM_001203252.1;MAPT,missense_variant,p.Asp287His,ENST00000446361,NM_016834.4;MAPT,missense_variant,p.Asp680His,ENST00000415613,;MAPT,missense_variant,p.Asp662His,ENST00000571987,;MAPT,missense_variant,p.Asp345His,ENST00000574436,;MAPT,missense_variant,p.Asp316His,ENST00000420682,;MAPT,missense_variant,p.Asp314His,ENST00000431008,;MAPT,missense_variant,p.Asp256His,ENST00000334239,NM_016841.4;MAPT,non_coding_transcript_exon_variant,,ENST00000570299,;MAPT,non_coding_transcript_exon_variant,,ENST00000576518,;	C	ENST00000344290	Transcript	missense_variant	2360/6816	2038/2331	680/776	D/H	Gac/Cac		1		1	MAPT	HGNC	HGNC:6893	protein_coding	YES	CCDS45715.1	ENSP00000340820	P10636		UPI0001AE66E9	NM_001123066.3	deleterious(0.02)		14/15		PROSITE_profiles:PS51491,hmmpanther:PTHR11501,Pfam_domain:PF00418																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	46018653	46018653	G	C	1	0	0	0	0	1	0	0	0	9220	1290	45	4		4	MAPT	17	46018653	Missense_Mutation	SNP	G	C3N-00294_TP	1515297	46018653	37238788	1050	14552											
KANSL1	0	.	GRCh38	chr17	46171309	46171309	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttatccttgtgtcagaatCtaaagcactgaaaagaatgg	14	12	9	6	0	2	3	1	1	1	2	3	3	3	3	1	1	1	2	1	1	7	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.835G>C	p.Asp279His	p.D279H	ENST00000262419	2/15	162	137	25	115	115	0	strelka-varscan-mutect	KANSL1,missense_variant,p.Asp279His,ENST00000262419,NM_001193466.1;KANSL1,missense_variant,p.Asp279His,ENST00000574590,;KANSL1,missense_variant,p.Asp279His,ENST00000432791,NM_001193465.1;KANSL1,missense_variant,p.Asp279His,ENST00000572904,NM_015443.3;KANSL1,missense_variant,p.Asp279His,ENST00000575318,;KANSL1,downstream_gene_variant,,ENST00000574655,;KANSL1,downstream_gene_variant,,ENST00000571698,;KANSL1,downstream_gene_variant,,ENST00000576739,;KANSL1,upstream_gene_variant,,ENST00000576248,;KANSL1,upstream_gene_variant,,ENST00000577114,;	G	ENST00000262419	Transcript	missense_variant	1306/5309	835/3318	279/1105	D/H	Gat/Cat		1		-1	KANSL1	HGNC	HGNC:24565	protein_coding	YES	CCDS11503.2	ENSP00000262419	Q7Z3B3	A0A024R9Y2	UPI000013D2AE	NM_001193466.1	deleterious(0)		2/15		hmmpanther:PTHR22443:SF14,hmmpanther:PTHR22443																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	46171309	46171309	C	G	1	0	0	0	0	1	0	0	0	7889	913	32	4		4	KANSL1	17	46171309	Missense_Mutation	SNP	C	C3N-00294_TP	152656	46171309	37086132	1051	14553											
NPEPPS	0	.	GRCh38	chr17	47613711	47613711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtgatggcactactttaGatattatgttaaaagtaagt	14	15	9	3	0	0	2	0	1	0	1	0	2	0	2	0	2	1	3	0	2	7	7	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2281G>C	p.Asp761His	p.D761H	ENST00000322157	19/23	102	85	17	129	129	0	strelka-varscan-mutect	NPEPPS,missense_variant,p.Asp761His,ENST00000322157,NM_006310.3;NPEPPS,missense_variant,p.Asp757His,ENST00000530173,;NPEPPS,upstream_gene_variant,,ENST00000528565,;RP11-580I16.2,intron_variant,,ENST00000582389,;RP11-580I16.2,intron_variant,,ENST00000582066,;NPEPPS,3_prime_UTR_variant,,ENST00000530514,;NPEPPS,3_prime_UTR_variant,,ENST00000525048,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000531486,;	C	ENST00000322157	Transcript	missense_variant	2518/4353	2281/2760	761/919	D/H	Gat/Cat		1		1	NPEPPS	HGNC	HGNC:7900	protein_coding	YES	CCDS45721.1	ENSP00000320324	P55786		UPI0000140D51	NM_006310.3	deleterious(0.01)		19/23		hmmpanther:PTHR11533:SF187,hmmpanther:PTHR11533,Pfam_domain:PF11838																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	47613711	47613711	G	C	1	0	0	0	0	1	0	0	0	10623	942	33	4		4	NPEPPS	17	47613711	Missense_Mutation	SNP	G	C3N-00294_TP	1442402	47613711	35643730	1052	14554											
KAT7	0	.	GRCh38	chr17	49821772	49821772	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaacactggctgtcacctGattggatatttttctaaggt	10	14	9	8	0	2	1	1	1	1	0	2	3	2	2	1	3	1	1	1	3	3	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1368G>A	p.=	p.L456L	ENST00000259021	11/15	372	310	62	289	289	0	strelka-varscan-mutect	KAT7,synonymous_variant,p.=,ENST00000259021,NM_007067.4;KAT7,synonymous_variant,p.=,ENST00000435742,;KAT7,synonymous_variant,p.=,ENST00000424009,NM_001199155.1;KAT7,synonymous_variant,p.=,ENST00000454930,NM_001199156.1;KAT7,synonymous_variant,p.=,ENST00000509773,NM_001199157.1;KAT7,synonymous_variant,p.=,ENST00000510819,NM_001199158.1;KAT7,non_coding_transcript_exon_variant,,ENST00000513980,;KAT7,non_coding_transcript_exon_variant,,ENST00000512616,;KAT7,non_coding_transcript_exon_variant,,ENST00000513171,;KAT7,non_coding_transcript_exon_variant,,ENST00000514540,;KAT7,upstream_gene_variant,,ENST00000503101,;KAT7,downstream_gene_variant,,ENST00000508594,;KAT7,non_coding_transcript_exon_variant,,ENST00000509794,;KAT7,non_coding_transcript_exon_variant,,ENST00000510426,;KAT7,upstream_gene_variant,,ENST00000503635,;KAT7,upstream_gene_variant,,ENST00000513075,;	A	ENST00000259021	Transcript	synonymous_variant	1648/9644	1368/1836	456/611	L	ctG/ctA		1		1	KAT7	HGNC	HGNC:17016	protein_coding	YES	CCDS11554.1	ENSP00000259021	O95251		UPI000006D3D5	NM_007067.4			11/15		PROSITE_profiles:PS51726,hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF111,Pfam_domain:PF01853,Gene3D:3.40.630.30,Superfamily_domains:SSF55729																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	49821772	49821772	G	A	1	0	0	0	0	0	0	0	1	7900	1277	45	3		3	KAT7	17	49821772	Silent	SNP	G	C3N-00294_TP	2208061	49821772	33435669	1053	14555											
ACSF2	0	.	GRCh38	chr17	50473741	50473741	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgatcatccggggtggtGagaacatctaccccgcagag	11	8	12	10	2	2	3	1	2	1	2	3	4	3	3	3	3	2	1	3	3	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1627G>T	p.Glu543Ter	p.E543*	ENST00000427954	14/17	292	240	52	279	279	0	strelka-varscan-mutect	ACSF2,stop_gained,p.Glu543Ter,ENST00000427954,NM_001288968.1;ACSF2,stop_gained,p.Glu518Ter,ENST00000300441,NM_025149.5;ACSF2,stop_gained,p.Glu505Ter,ENST00000502667,NM_001288969.1;ACSF2,stop_gained,p.Glu475Ter,ENST00000504392,NM_001288972.1,NM_001288970.1,NM_001288971.1;CHAD,upstream_gene_variant,,ENST00000508540,NM_001267.2;CHAD,upstream_gene_variant,,ENST00000258969,;RP11-94C24.13,upstream_gene_variant,,ENST00000620769,;ACSF2,non_coding_transcript_exon_variant,,ENST00000506085,;ACSF2,non_coding_transcript_exon_variant,,ENST00000512119,;ACSF2,non_coding_transcript_exon_variant,,ENST00000513544,;ACSF2,non_coding_transcript_exon_variant,,ENST00000511147,;ACSF2,downstream_gene_variant,,ENST00000509806,;ACSF2,downstream_gene_variant,,ENST00000508734,;ACSF2,3_prime_UTR_variant,,ENST00000510410,;ACSF2,3_prime_UTR_variant,,ENST00000508245,;ACSF2,non_coding_transcript_exon_variant,,ENST00000503295,;ACSF2,non_coding_transcript_exon_variant,,ENST00000512537,;ACSF2,downstream_gene_variant,,ENST00000511288,;ACSF2,upstream_gene_variant,,ENST00000507792,;ACSF2,downstream_gene_variant,,ENST00000507769,;ACSF2,downstream_gene_variant,,ENST00000513101,;ACSF2,downstream_gene_variant,,ENST00000503387,;ACSF2,downstream_gene_variant,,ENST00000510262,;	T	ENST00000427954	Transcript	stop_gained	1670/2251	1627/1923	543/640	E/*	Gag/Tag		1		1	ACSF2	HGNC	HGNC:26101	protein_coding	YES	CCDS74103.1	ENSP00000401831	Q96CM8		UPI00017A6F63	NM_001288968.1			14/17		Gene3D:3.30.300.30,hmmpanther:PTHR24095,Superfamily_domains:SSF56801																	HIGH		SNV	2			1										PASS		.	.												T	4	4	46	50473741	50473741	G	T	1	0	0	0	0	0	1	0	0	217	1291	45	2		2	ACSF2	17	50473741	Nonsense_Mutation	SNP	G	C3N-00294_TP	651969	50473741	32783700	1054	14556											
CACNA1G	0	.	GRCh38	chr17	50572672	50572672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaagcgtgcccacgctgCgcggggacgggggcggtggc	5	3	21	12	6	0	1	0	0	0	1	0	2	0	2	1	6	3	2	1	6	1	0	rs761241506		C3N-00294_TP	C3N-00294_NB	C	C																c.865C>A	p.Arg289Ser	p.R289S	ENST00000359106	6/38	178	83	95	144	144	0	strelka-varscan-mutect	CACNA1G,missense_variant,p.Arg289Ser,ENST00000354983,NM_198396.2;CACNA1G,missense_variant,p.Arg289Ser,ENST00000352832,NM_198387.2;CACNA1G,missense_variant,p.Arg289Ser,ENST00000359106,NM_018896.4;CACNA1G,missense_variant,p.Arg289Ser,ENST00000360761,NM_198382.2;CACNA1G,missense_variant,p.Arg289Ser,ENST00000442258,NM_198388.2;CACNA1G,missense_variant,p.Arg289Ser,ENST00000429973,NM_198386.2;CACNA1G,missense_variant,p.Arg289Ser,ENST00000507336,NM_198377.2;CACNA1G,missense_variant,p.Arg289Ser,ENST00000358244,NM_198376.2;CACNA1G,missense_variant,p.Arg289Ser,ENST00000507510,NM_198385.2;CACNA1G,missense_variant,p.Arg289Ser,ENST00000515765,NM_198380.2;CACNA1G,missense_variant,p.Arg289Ser,ENST00000515411,NM_001256324.1;CACNA1G,missense_variant,p.Arg289Ser,ENST00000502264,NM_198383.2;CACNA1G,missense_variant,p.Arg289Ser,ENST00000510115,NM_198379.2;CACNA1G,missense_variant,p.Arg289Ser,ENST00000514079,NM_001256325.1;CACNA1G,missense_variant,p.Arg289Ser,ENST00000513689,NM_001256326.1;CACNA1G,missense_variant,p.Arg289Ser,ENST00000515165,NM_198384.2;CACNA1G,missense_variant,p.Arg289Ser,ENST00000507609,NM_001256327.1;CACNA1G,missense_variant,p.Arg289Ser,ENST00000512389,NM_198378.2;CACNA1G,missense_variant,p.Arg289Ser,ENST00000514181,NM_001256328.1;CACNA1G,missense_variant,p.Arg289Ser,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,missense_variant,p.Arg289Ser,ENST00000513964,NM_001256360.1,NM_001256361.1,NM_001256330.1;CACNA1G,missense_variant,p.Arg289Ser,ENST00000510366,NM_001256331.1;CACNA1G,missense_variant,p.Arg289Ser,ENST00000514717,NM_001256332.1;CACNA1G,missense_variant,p.Arg289Ser,ENST00000505165,NM_001256333.1;CACNA1G,missense_variant,p.Arg289Ser,ENST00000507896,NM_001256334.1;CACNA1G,missense_variant,p.Arg289Ser,ENST00000416767,;CACNA1G,missense_variant,p.Arg171Ser,ENST00000570567,;CACNA1G,missense_variant,p.Arg289Ser,ENST00000506406,;CACNA1G,missense_variant,p.Arg289Ser,ENST00000504076,;CACNA1G,missense_variant,p.Arg289Ser,ENST00000511765,;CACNA1G,missense_variant,p.Arg289Ser,ENST00000503436,;CACNA1G,missense_variant,p.Arg289Ser,ENST00000511768,;CACNA1G,missense_variant,p.Arg289Ser,ENST00000503607,;	A	ENST00000359106	Transcript	missense_variant	865/7648	865/7134	289/2377	R/S	Cgc/Agc	rs761241506	1		1	CACNA1G	HGNC	HGNC:1394	protein_coding	YES	CCDS45730.1	ENSP00000352011	O43497		UPI000012727A	NM_018896.4	deleterious(0.05)		6/38		Pfam_domain:PF00520																	MODERATE	1	SNV	1			1										PASS		rs761241506	.												A	3	1	46	50572672	50572672	C	A	1	0	0	0	0	1	0	0	0	2232	768	27	1		1	CACNA1G	17	50572672	Missense_Mutation	SNP	C	C3N-00294_TP	98931	50572672	32684769	1055	14557											
CACNA1G	0	.	GRCh38	chr17	50576262	50576262	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcccccaaccctcacCagcctcaacatcccacccgg	8	5	6	22	1	3	0	2	0	1	0	4	0	4	0	7	2	3	0	7	2	2	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1860C>T	p.=	p.T620T	ENST00000359106	8/38	548	448	100	458	458	0	strelka-varscan-mutect	CACNA1G,synonymous_variant,p.=,ENST00000354983,NM_198396.2;CACNA1G,synonymous_variant,p.=,ENST00000352832,NM_198387.2;CACNA1G,synonymous_variant,p.=,ENST00000359106,NM_018896.4;CACNA1G,synonymous_variant,p.=,ENST00000360761,NM_198382.2;CACNA1G,synonymous_variant,p.=,ENST00000442258,NM_198388.2;CACNA1G,synonymous_variant,p.=,ENST00000429973,NM_198386.2;CACNA1G,synonymous_variant,p.=,ENST00000507336,NM_198377.2;CACNA1G,synonymous_variant,p.=,ENST00000358244,NM_198376.2;CACNA1G,synonymous_variant,p.=,ENST00000507510,NM_198385.2;CACNA1G,synonymous_variant,p.=,ENST00000515765,NM_198380.2;CACNA1G,synonymous_variant,p.=,ENST00000515411,NM_001256324.1;CACNA1G,synonymous_variant,p.=,ENST00000502264,NM_198383.2;CACNA1G,synonymous_variant,p.=,ENST00000510115,NM_198379.2;CACNA1G,synonymous_variant,p.=,ENST00000514079,NM_001256325.1;CACNA1G,synonymous_variant,p.=,ENST00000513689,NM_001256326.1;CACNA1G,synonymous_variant,p.=,ENST00000515165,NM_198384.2;CACNA1G,synonymous_variant,p.=,ENST00000507609,NM_001256327.1;CACNA1G,synonymous_variant,p.=,ENST00000512389,NM_198378.2;CACNA1G,synonymous_variant,p.=,ENST00000514181,NM_001256328.1;CACNA1G,synonymous_variant,p.=,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,synonymous_variant,p.=,ENST00000513964,NM_001256360.1,NM_001256361.1,NM_001256330.1;CACNA1G,synonymous_variant,p.=,ENST00000510366,NM_001256331.1;CACNA1G,synonymous_variant,p.=,ENST00000514717,NM_001256332.1;CACNA1G,synonymous_variant,p.=,ENST00000505165,NM_001256333.1;CACNA1G,synonymous_variant,p.=,ENST00000507896,NM_001256334.1;CACNA1G,synonymous_variant,p.=,ENST00000416767,;CACNA1G,downstream_gene_variant,,ENST00000570567,;CACNA1G,synonymous_variant,p.=,ENST00000506406,;CACNA1G,synonymous_variant,p.=,ENST00000504076,;CACNA1G,synonymous_variant,p.=,ENST00000511765,;CACNA1G,synonymous_variant,p.=,ENST00000503436,;CACNA1G,synonymous_variant,p.=,ENST00000511768,;CACNA1G,synonymous_variant,p.=,ENST00000503607,;	T	ENST00000359106	Transcript	synonymous_variant	1860/7648	1860/7134	620/2377	T	acC/acT		1		1	CACNA1G	HGNC	HGNC:1394	protein_coding	YES	CCDS45730.1	ENSP00000352011	O43497		UPI000012727A	NM_018896.4			8/38																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	50576262	50576262	C	T	1	0	0	0	0	0	0	0	1	2232	581	21	3		3	CACNA1G	17	50576262	Silent	SNP	C	C3N-00294_TP	3590	50576262	32681179	1056	14558											
UTP18	0	.	GRCh38	chr17	51273422	51273422	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaatttcatatccacatCaacttctcttccaagaggaa	13	12	6	10	0	3	1	2	0	1	1	6	3	5	3	2	2	1	0	2	2	5	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.683C>A	p.Ser228Ter	p.S228*	ENST00000225298	5/14	111	98	13	112	112	0	strelka-varscan-mutect	UTP18,stop_gained,p.Ser228Ter,ENST00000225298,NM_016001.2;UTP18,upstream_gene_variant,,ENST00000583725,;UTP18,upstream_gene_variant,,ENST00000508506,;	A	ENST00000225298	Transcript	stop_gained	740/1894	683/1671	228/556	S/*	tCa/tAa		1		1	UTP18	HGNC	HGNC:24274	protein_coding	YES	CCDS42362.1	ENSP00000225298	Q9Y5J1		UPI000051E38C	NM_016001.2			5/14		hmmpanther:PTHR18359																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	46	51273422	51273422	C	A	1	0	0	0	0	0	1	0	0	17641	838	29	2		2	UTP18	17	51273422	Nonsense_Mutation	SNP	C	C3N-00294_TP	697160	51273422	31984019	1057	14559											
UTP18	0	.	GRCh38	chr17	51275918	51275918	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctactgttgctcggatctCatctgtgcagttccatcccg	5	14	8	14	2	2	0	1	0	2	0	7	1	5	1	3	1	3	4	3	1	1	3			C3N-00294_TP	C3N-00294_NB	C	C																c.764C>G	p.Ser255Ter	p.S255*	ENST00000225298	6/14	217	188	29	165	165	0	strelka-varscan-mutect	UTP18,stop_gained,p.Ser255Ter,ENST00000225298,NM_016001.2;UTP18,upstream_gene_variant,,ENST00000583725,;UTP18,upstream_gene_variant,,ENST00000579261,;UTP18,stop_gained,p.Ser18Ter,ENST00000508506,;UTP18,upstream_gene_variant,,ENST00000583205,;	G	ENST00000225298	Transcript	stop_gained	821/1894	764/1671	255/556	S/*	tCa/tGa	COSM4508059	1		1	UTP18	HGNC	HGNC:24274	protein_coding	YES	CCDS42362.1	ENSP00000225298	Q9Y5J1		UPI000051E38C	NM_016001.2			6/14		hmmpanther:PTHR18359,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978											1						HIGH	1	SNV	1		1	1										PASS		.	.												G	4	3	46	51275918	51275918	C	G	1	0	0	0	0	0	1	0	0	17641	838	29	4		4	UTP18	17	51275918	Nonsense_Mutation	SNP	C	C3N-00294_TP	2496	51275918	31981523	1058	14560											
TOM1L1	0	.	GRCh38	chr17	54960579	54960579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttcagagctatttatgaaGaaattgatgctcaccagcac	13	12	8	8	0	2	4	2	2	0	2	2	4	2	4	1	0	3	4	1	0	4	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1384G>A	p.Glu462Lys	p.E462K	ENST00000575882	15/16	150	140	10	170	169	1	strelka-varscan-mutect	TOM1L1,missense_variant,p.Glu462Lys,ENST00000575882,NM_001321175.1,NM_001321176.1,NM_005486.2;TOM1L1,missense_variant,p.Glu451Lys,ENST00000445275,;TOM1L1,missense_variant,p.Glu385Lys,ENST00000348161,;TOM1L1,missense_variant,p.Glu385Lys,ENST00000536554,;TOM1L1,missense_variant,p.Glu455Lys,ENST00000572158,;COX11,downstream_gene_variant,,ENST00000299335,NM_004375.3;COX11,downstream_gene_variant,,ENST00000571584,NM_001321518.1;TOM1L1,downstream_gene_variant,,ENST00000574318,;RP11-257O5.4,upstream_gene_variant,,ENST00000616755,;COX11,intron_variant,,ENST00000573912,;COX11,intron_variant,,ENST00000574989,;RP11-257O5.2,upstream_gene_variant,,ENST00000623493,;TOM1L1,3_prime_UTR_variant,,ENST00000571319,;TOM1L1,non_coding_transcript_exon_variant,,ENST00000574653,;COX11,intron_variant,,ENST00000576370,;COX11,intron_variant,,ENST00000572558,NM_001162862.2;COX11,intron_variant,,ENST00000574821,;	A	ENST00000575882	Transcript	missense_variant	1737/2507	1384/1431	462/476	E/K	Gaa/Aaa		1		1	TOM1L1	HGNC	HGNC:11983	protein_coding	YES	CCDS11582.1	ENSP00000460823	O75674		UPI000003E7E0	NM_001321175.1,NM_001321176.1,NM_005486.2	tolerated(0.07)		15/16		PIRSF_domain:PIRSF036948,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	54960579	54960579	G	A	1	0	0	0	0	1	0	0	0	16826	943	33	3		3	TOM1L1	17	54960579	Missense_Mutation	SNP	G	C3N-00294_TP	3684661	54960579	28296862	1059	14561											
HLF	0	.	GRCh38	chr17	55267960	55267960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagcatgaccacagccctCaccctcctgggctgcagcca	8	6	8	19	0	2	1	2	1	0	0	3	1	3	1	5	1	4	3	5	1	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.325C>T	p.His109Tyr	p.H109Y	ENST00000226067	2/4	259	210	49	264	264	0	strelka-varscan-mutect	HLF,missense_variant,p.His109Tyr,ENST00000226067,NM_002126.4;HLF,missense_variant,p.His24Tyr,ENST00000575345,;HLF,missense_variant,p.His24Tyr,ENST00000573945,;HLF,missense_variant,p.His24Tyr,ENST00000430986,;HLF,missense_variant,p.His49Tyr,ENST00000572002,;RP11-515O17.2,downstream_gene_variant,,ENST00000574716,;HLF,missense_variant,p.His24Tyr,ENST00000570962,;	T	ENST00000226067	Transcript	missense_variant	798/5547	325/888	109/295	H/Y	Cac/Tac		1		1	HLF	HGNC	HGNC:4977	protein_coding	YES	CCDS11585.1	ENSP00000226067	Q16534		UPI0000001C51	NM_002126.4	tolerated(0.18)		2/4		Low_complexity_(Seg):seg,hmmpanther:PTHR11988,hmmpanther:PTHR11988:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	55267960	55267960	C	T	1	0	0	0	0	1	0	0	0	7104	826	29	3		3	HLF	17	55267960	Missense_Mutation	SNP	C	C3N-00294_TP	307381	55267960	27989481	1060	14562											
CUEDC1	0	.	GRCh38	chr17	57868154	57868154	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctggaaaggatacgactGatgcttcaacaagtgtttcc	12	10	11	8	1	1	1	1	1	0	0	2	4	2	3	1	3	3	3	1	3	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1030C>T	p.Gln344Ter	p.Q344*	ENST00000577830	8/11	250	216	34	237	237	0	strelka-varscan-mutect	CUEDC1,stop_gained,p.Gln344Ter,ENST00000577830,NM_001271875.1;CUEDC1,stop_gained,p.Gln344Ter,ENST00000360238,NM_001292025.1;CUEDC1,stop_gained,p.Gln344Ter,ENST00000407144,;CUEDC1,stop_gained,p.Gln207Ter,ENST00000577840,;CUEDC1,intron_variant,,ENST00000581898,;CUEDC1,downstream_gene_variant,,ENST00000577589,;CUEDC1,upstream_gene_variant,,ENST00000585294,;CUEDC1,non_coding_transcript_exon_variant,,ENST00000578357,;CUEDC1,upstream_gene_variant,,ENST00000577422,;CUEDC1,non_coding_transcript_exon_variant,,ENST00000584746,;CUEDC1,non_coding_transcript_exon_variant,,ENST00000581391,;CUEDC1,upstream_gene_variant,,ENST00000582951,;CUEDC1,upstream_gene_variant,,ENST00000577497,;	A	ENST00000577830	Transcript	stop_gained	1444/3621	1030/1161	344/386	Q/*	Cag/Tag		1		-1	CUEDC1	HGNC	HGNC:31350	protein_coding	YES	CCDS11599.1	ENSP00000462717	Q9NWM3		UPI0000073340	NM_001271875.1			8/11		hmmpanther:PTHR13467																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	46	57868154	57868154	G	A	1	0	0	0	0	0	1	0	0	3862	1304	45	3		3	CUEDC1	17	57868154	Nonsense_Mutation	SNP	G	C3N-00294_TP	2600194	57868154	25389287	1061	14563											
SEPT4	0	.	GRCh38	chr17	58521092	58521092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgtgtcacatccttcaGgtcctgcatgtgggtacgta	6	12	10	13	2	2	0	2	0	0	0	5	0	5	0	3	2	2	3	3	2	2	3	rs371430069		C3N-00294_TP	C3N-00294_NB	G	G																c.1228C>G	p.Leu410Val	p.L410V	ENST00000457347	11/13	182	163	19	204	204	0	strelka-varscan-mutect	SEPT4,missense_variant,p.Leu410Val,ENST00000457347,NM_001256782.1;SEPT4,missense_variant,p.Leu395Val,ENST00000317268,NM_004574.4;SEPT4,missense_variant,p.Leu248Val,ENST00000583114,NM_001256822.1;SEPT4,missense_variant,p.Leu387Val,ENST00000412945,NM_001198713.1;SEPT4,missense_variant,p.Leu376Val,ENST00000393086,;SEPT4,missense_variant,p.Leu376Val,ENST00000317256,NM_080416.3;SEPT4,missense_variant,p.Leu296Val,ENST00000580844,;SEPT4,missense_variant,p.Leu296Val,ENST00000579371,;SEPT4,3_prime_UTR_variant,,ENST00000426861,NM_080415.3;MTMR4,upstream_gene_variant,,ENST00000323456,NM_004687.4;MTMR4,upstream_gene_variant,,ENST00000579925,;SEPT4,downstream_gene_variant,,ENST00000580809,;SEPT4,downstream_gene_variant,,ENST00000583291,;SEPT4,downstream_gene_variant,,ENST00000577729,;MTMR4,upstream_gene_variant,,ENST00000579921,;SEPT4-AS1,intron_variant,,ENST00000580589,;SEPT4-AS1,upstream_gene_variant,,ENST00000580769,;SEPT4-AS1,upstream_gene_variant,,ENST00000578022,;SEPT4,non_coding_transcript_exon_variant,,ENST00000580796,;SEPT4,non_coding_transcript_exon_variant,,ENST00000582270,;SEPT4,non_coding_transcript_exon_variant,,ENST00000583273,;SEPT4,non_coding_transcript_exon_variant,,ENST00000577440,;SEPT4,non_coding_transcript_exon_variant,,ENST00000584488,;SEPT4,downstream_gene_variant,,ENST00000585170,;SEPT4,downstream_gene_variant,,ENST00000584789,;SEPT4,downstream_gene_variant,,ENST00000581615,;MTMR4,upstream_gene_variant,,ENST00000582663,;SEPT4,downstream_gene_variant,,ENST00000578131,;	C	ENST00000457347	Transcript	missense_variant	1373/1795	1228/1482	410/493	L/V	Ctg/Gtg	rs371430069	1		-1	SEPT4	HGNC	HGNC:9165	protein_coding	YES	CCDS58582.1	ENSP00000402000	O43236		UPI00017A809C	NM_001256782.1	deleterious(0)		11/13		Pfam_domain:PF00735,PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF71																	MODERATE		SNV	2			1										PASS		rs371430069	.												C	3	2	46	58521092	58521092	G	C	1	0	0	0	0	1	0	0	0	14342	991	35	4		4	SEPT4	17	58521092	Missense_Mutation	SNP	G	C3N-00294_TP	652938	58521092	24736349	1062	14564											
TEX14	0	.	GRCh38	chr17	58569231	58569231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagatggtggtggcagctCatcaatgtgatgctgtgaga	9	11	15	6	0	2	3	2	3	0	2	2	5	2	3	0	3	2	3	0	3	1	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3985G>A	p.Glu1329Lys	p.E1329K	ENST00000240361	27/33	165	141	24	144	144	0	strelka-varscan-mutect	TEX14,missense_variant,p.Glu1323Lys,ENST00000389934,NM_198393.3;TEX14,missense_variant,p.Glu1329Lys,ENST00000240361,NM_001201457.1;TEX14,missense_variant,p.Glu1283Lys,ENST00000349033,NM_031272.4;TEX14,upstream_gene_variant,,ENST00000584699,;TEX14,missense_variant,p.Glu137Lys,ENST00000581147,;TEX14,3_prime_UTR_variant,,ENST00000582740,;	T	ENST00000240361	Transcript	missense_variant	4071/4911	3985/4494	1329/1497	E/K	Gag/Aag		1		-1	TEX14	HGNC	HGNC:11737	protein_coding	YES	CCDS56042.1	ENSP00000240361	Q8IWB6		UPI0000DAC9CA	NM_001201457.1	deleterious(0.03)		27/33		hmmpanther:PTHR23060																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	58569231	58569231	C	T	1	0	0	0	0	1	0	0	0	16200	835	29	3		3	TEX14	17	58569231	Missense_Mutation	SNP	C	C3N-00294_TP	48139	58569231	24688210	1063	14565											
PPM1E	0	.	GRCh38	chr17	58980751	58980751	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcaaatccccgggaaacaGagtttctagattgtctcatt	11	13	8	9	1	3	2	2	0	2	2	5	3	4	3	2	1	1	2	2	1	3	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1988G>C	p.Arg663Thr	p.R663T	ENST00000308249	7/7	278	249	29	232	232	0	strelka-varscan-mutect	PPM1E,missense_variant,p.Arg663Thr,ENST00000308249,NM_014906.4;TRIM37,downstream_gene_variant,,ENST00000393066,NM_001005207.2;TRIM37,downstream_gene_variant,,ENST00000585287,;TRIM37,downstream_gene_variant,,ENST00000583945,;	C	ENST00000308249	Transcript	missense_variant	2117/6542	1988/2268	663/755	R/T	aGa/aCa		1		1	PPM1E	HGNC	HGNC:19322	protein_coding	YES	CCDS11613.1	ENSP00000312411	Q8WY54		UPI000013ECF6	NM_014906.4	deleterious_low_confidence(0.02)		7/7																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	58980751	58980751	G	C	1	0	0	0	0	1	0	0	0	12448	942	33	4		4	PPM1E	17	58980751	Missense_Mutation	SNP	G	C3N-00294_TP	411520	58980751	24276690	1064	14566											
RPS6KB1	0	.	GRCh38	chr17	59930120	59930120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttctttttctttacaggagGagaactatttatgcagttag	10	18	8	5	0	2	1	0	0	2	1	2	3	2	2	0	2	3	2	0	2	5	9	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.533G>A	p.Gly178Glu	p.G178E	ENST00000225577	6/15	132	115	17	129	129	0	strelka-varscan-mutect	RPS6KB1,missense_variant,p.Gly125Glu,ENST00000393021,NM_001272044.1;RPS6KB1,missense_variant,p.Gly178Glu,ENST00000225577,NM_001272060.1,NM_003161.3;RPS6KB1,missense_variant,p.Gly178Glu,ENST00000406116,NM_001272043.1;RPS6KB1,missense_variant,p.Gly155Glu,ENST00000443572,NM_001272042.1;RPS6KB1,3_prime_UTR_variant,,ENST00000472940,;RPS6KB1,3_prime_UTR_variant,,ENST00000489824,;RPS6KB1,upstream_gene_variant,,ENST00000590928,;RPS6KB1,upstream_gene_variant,,ENST00000587622,;	A	ENST00000225577	Transcript	missense_variant	554/5375	533/1578	178/525	G/E	gGa/gAa		1		1	RPS6KB1	HGNC	HGNC:10436	protein_coding	YES	CCDS11621.1	ENSP00000225577	P23443		UPI000013C873	NM_001272060.1,NM_003161.3	deleterious(0)		6/15		PROSITE_profiles:PS50011,hmmpanther:PTHR24351:SF85,hmmpanther:PTHR24351,PIRSF_domain:PIRSF000605,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	59930120	59930120	G	A	1	0	0	0	0	1	0	0	0	13911	1188	41	3		3	RPS6KB1	17	59930120	Missense_Mutation	SNP	G	C3N-00294_TP	949369	59930120	23327321	1065	14567											
MED13	0	.	GRCh38	chr17	62035466	62035466	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataataaaataatctaccttGaaatgggctattagactgtt	16	14	6	5	0	1	2	0	1	1	1	1	2	1	2	1	1	1	2	1	1	8	8	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.613C>T	p.Gln205Ter	p.Q205*	ENST00000397786	4/30	109	88	21	143	143	0	varscan-mutect	MED13,stop_gained,p.Gln205Ter,ENST00000397786,NM_005121.2;Y_RNA,upstream_gene_variant,,ENST00000363972,;MED13,upstream_gene_variant,,ENST00000580896,;MED13,upstream_gene_variant,,ENST00000581994,;MED13,upstream_gene_variant,,ENST00000578132,;	A	ENST00000397786	Transcript	stop_gained	690/10465	613/6525	205/2174	Q/*	Caa/Taa		1		-1	MED13	HGNC	HGNC:22474	protein_coding	YES	CCDS42366.1	ENSP00000380888	Q9UHV7	A0A024QZ75	UPI0000D7D6F6	NM_005121.2			4/30		hmmpanther:PTHR10791:SF51,hmmpanther:PTHR10791,Pfam_domain:PF11597																	HIGH	1	SNV	1			1										PASS		rs980586772	.												A	4	1	46	62035466	62035466	G	A	1	0	0	0	0	0	1	0	0	9369	1304	45	3		3	MED13	17	62035466	Nonsense_Mutation	SNP	G	C3N-00294_TP	2105346	62035466	21221975	1066	14568											
METTL2A	0	.	GRCh38	chr17	62448684	62448684	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgacaatgtaccgggtttgGattcagtgcaaatactgcaa	12	11	10	8	1	1	1	1	1	0	0	1	2	1	2	1	2	4	4	1	2	5	4	rs781133580		C3N-00294_TP	C3N-00294_NB	G	G																c.1092G>A	p.Trp364Ter	p.W364*	ENST00000311506	9/9	330	270	60	242	242	0	strelka-varscan-mutect	METTL2A,stop_gained,p.Trp299Ter,ENST00000616852,;METTL2A,stop_gained,p.Trp364Ter,ENST00000311506,NM_181725.3;METTL2A,non_coding_transcript_exon_variant,,ENST00000333483,;	A	ENST00000311506	Transcript	stop_gained	1128/2537	1092/1137	364/378	W/*	tgG/tgA	rs781133580	1		1	METTL2A	HGNC	HGNC:25755	protein_coding	YES	CCDS45752.1	ENSP00000309610	Q96IZ6		UPI0000201189	NM_181725.3			9/9		hmmpanther:PTHR22809:SF4,hmmpanther:PTHR22809,Gene3D:3.40.50.150,PIRSF_domain:PIRSF037755,Superfamily_domains:SSF53335																	HIGH	1	SNV	1			1										PASS		rs781133580	.												A	4	1	46	62448684	62448684	G	A	1	0	0	0	0	0	1	0	0	9452	1183	41	3		3	METTL2A	17	62448684	Nonsense_Mutation	SNP	G	C3N-00294_TP	413218	62448684	20808757	1067	14569											
ACE	0	.	GRCh38	chr17	63477221	63477221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggcaacttttctgctgacGaggccggggcgcagctcttc	5	9	13	14	4	2	1	0	1	2	0	3	2	2	1	2	4	3	4	2	4	1	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.127G>A	p.Glu43Lys	p.E43K	ENST00000290866	1/25	214	176	38	230	229	1	strelka-varscan-mutect	ACE,missense_variant,p.Glu43Lys,ENST00000428043,;ACE,missense_variant,p.Glu43Lys,ENST00000290866,NM_000789.3;ACE,upstream_gene_variant,,ENST00000582627,;ACE,non_coding_transcript_exon_variant,,ENST00000584529,;ACE,non_coding_transcript_exon_variant,,ENST00000583336,;ACE,missense_variant,p.Glu43Lys,ENST00000582678,;ACE,non_coding_transcript_exon_variant,,ENST00000579462,;ACE,upstream_gene_variant,,ENST00000580318,;	A	ENST00000290866	Transcript	missense_variant	151/4959	127/3921	43/1306	E/K	Gag/Aag		1		1	ACE	HGNC	HGNC:2707	protein_coding	YES	CCDS11637.1	ENSP00000290866	P12821		UPI000002B8AD	NM_000789.3	deleterious(0.02)		1/25		Pfam_domain:PF01401																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	63477221	63477221	G	A	1	0	0	0	0	1	0	0	0	174	1059	37	1		1	ACE	17	63477221	Missense_Mutation	SNP	G	C3N-00294_TP	1028537	63477221	19780220	1068	14570											
ACE	0	.	GRCh38	chr17	63494021	63494021	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcgctggagggtatttgatgGaagcatcaccaaggagaact	12	8	14	7	1	1	2	1	1	0	1	1	5	1	4	1	4	2	3	1	4	4	2	rs752369560		C3N-00294_TP	C3N-00294_NB	G	G																c.3236G>C	p.Gly1079Ala	p.G1079A	ENST00000290866	21/25	462	375	87	358	357	1	strelka-varscan-mutect	ACE,missense_variant,p.Gly1079Ala,ENST00000428043,;ACE,missense_variant,p.Gly1079Ala,ENST00000290866,NM_000789.3;ACE,missense_variant,p.Gly505Ala,ENST00000290863,NM_152830.2;ACE,missense_variant,p.Gly505Ala,ENST00000413513,NM_001178057.1;ACE,missense_variant,p.Gly256Ala,ENST00000582761,;ACE,upstream_gene_variant,,ENST00000579409,;ACE,non_coding_transcript_exon_variant,,ENST00000577418,;CTD-2501B8.1,missense_variant,p.Gly505Ala,ENST00000577647,;ACE,3_prime_UTR_variant,,ENST00000579314,;ACE,3_prime_UTR_variant,,ENST00000578839,;ACE,non_coding_transcript_exon_variant,,ENST00000578679,;ACE,downstream_gene_variant,,ENST00000584865,;ACE,downstream_gene_variant,,ENST00000582005,;ACE,downstream_gene_variant,,ENST00000583645,;ACE,downstream_gene_variant,,ENST00000579204,;ACE,upstream_gene_variant,,ENST00000582244,;	C	ENST00000290866	Transcript	missense_variant	3260/4959	3236/3921	1079/1306	G/A	gGa/gCa	rs752369560	1		1	ACE	HGNC	HGNC:2707	protein_coding	YES	CCDS11637.1	ENSP00000290866	P12821		UPI000002B8AD	NM_000789.3	deleterious(0)		21/25		hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		rs752369560	.												C	3	2	46	63494021	63494021	G	C	1	0	0	0	0	1	0	0	0	174	1174	41	4		4	ACE	17	63494021	Missense_Mutation	SNP	G	C3N-00294_TP	16800	63494021	19763420	1069	14571											
KCNH6	0	.	GRCh38	chr17	63545773	63545773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacctctacatcccctGgaagtacaaggactcatctg	10	9	7	15	0	4	0	2	0	2	0	5	2	5	2	4	2	2	1	4	2	4	2	rs768671007		C3N-00294_TP	C3N-00294_NB	G	G																c.2856G>A	p.=	p.L952L	ENST00000583023	14/14	353	170	183	322	322	0	strelka-varscan-mutect	KCNH6,synonymous_variant,p.=,ENST00000583023,NM_030779.3;KCNH6,synonymous_variant,p.=,ENST00000314672,NM_001278919.1,NM_001278920.1;KCNH6,synonymous_variant,p.=,ENST00000581784,NM_173092.2;KCNH6,synonymous_variant,p.=,ENST00000456941,;DCAF7,upstream_gene_variant,,ENST00000614556,NM_005828.4;DCAF7,upstream_gene_variant,,ENST00000415273,;DCAF7,upstream_gene_variant,,ENST00000615512,;DCAF7,upstream_gene_variant,,ENST00000582274,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;DCAF7,upstream_gene_variant,,ENST00000431926,;	A	ENST00000583023	Transcript	synonymous_variant	2867/3821	2856/2985	952/994	L	ctG/ctA	rs768671007	1		1	KCNH6	HGNC	HGNC:18862	protein_coding	YES	CCDS11638.1	ENSP00000463533	Q9H252		UPI000012DCAB	NM_030779.3			14/14																			LOW	1	SNV	1			1										PASS		rs1489213922	.												A	2	1	46	63545773	63545773	G	A	1	0	0	0	0	0	0	0	1	7952	1335	47	3		3	KCNH6	17	63545773	Silent	SNP	G	C3N-00294_TP	51752	63545773	19711668	1070	14572											
CEP95	0	.	GRCh38	chr17	64531960	64531960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagccctggaagatttactCtagaaaaaccacaacgcaga	16	7	7	11	1	2	3	1	0	1	3	2	4	2	4	2	1	4	1	2	1	6	3	rs781956286		C3N-00294_TP	C3N-00294_NB	C	C																c.1610C>G	p.Ser537Cys	p.S537C	ENST00000556440	14/20	110	97	13	125	125	0	strelka-varscan-mutect	CEP95,missense_variant,p.Ser537Cys,ENST00000556440,NM_138363.1;CEP95,missense_variant,p.Leu473Val,ENST00000553412,;CEP95,missense_variant,p.Ser134Cys,ENST00000583457,;CEP95,upstream_gene_variant,,ENST00000583676,;CEP95,downstream_gene_variant,,ENST00000577476,;CEP95,3_prime_UTR_variant,,ENST00000553956,;CEP95,non_coding_transcript_exon_variant,,ENST00000584857,;CEP95,non_coding_transcript_exon_variant,,ENST00000579637,;CEP95,upstream_gene_variant,,ENST00000581885,;CEP95,upstream_gene_variant,,ENST00000580285,;CEP95,upstream_gene_variant,,ENST00000581980,;CEP95,downstream_gene_variant,,ENST00000579117,;CEP95,downstream_gene_variant,,ENST00000579478,;CEP95,upstream_gene_variant,,ENST00000582698,;	G	ENST00000556440	Transcript	missense_variant	2120/3139	1610/2466	537/821	S/C	tCt/tGt	rs781956286	1		1	CEP95	HGNC	HGNC:25141	protein_coding	YES	CCDS45763.1	ENSP00000450461	Q96GE4		UPI000006F4B3	NM_138363.1	deleterious(0.02)		14/20		hmmpanther:PTHR22545,hmmpanther:PTHR22545:SF0																	MODERATE	1	SNV	1			1										PASS		rs781956286	.												G	3	3	46	64531960	64531960	C	G	1	0	0	0	0	1	0	0	0	2988	913	32	4		4	CEP95	17	64531960	Missense_Mutation	SNP	C	C3N-00294_TP	986187	64531960	18725481	1071	14573											
SMURF2	0	.	GRCh38	chr17	64555981	64555981	+	Missense_Mutation	SNP	G	G	C																															attattcgtccaacaaagtgGaaataggataaatgttcctg																								novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1449C>G	p.Phe483Leu	p.F483L	ENST00000262435	14/19	43	34	9	59	59	0	strelka-varscan-mutect	SMURF2,missense_variant,p.Phe483Leu,ENST00000262435,NM_022739.3;SMURF2,missense_variant,p.Phe470Leu,ENST00000585301,;SMURF2,downstream_gene_variant,,ENST00000578200,;SMURF2,3_prime_UTR_variant,,ENST00000582081,;SMURF2,3_prime_UTR_variant,,ENST00000578386,;SMURF2,downstream_gene_variant,,ENST00000580072,;	C	ENST00000262435	Transcript	missense_variant	1637/2918	1449/2247	483/748	F/L	ttC/ttG		1		-1	SMURF2	HGNC	HGNC:16809	protein_coding	YES	CCDS32707.1	ENSP00000262435	Q9HAU4		UPI00001361C5	NM_022739.3	deleterious(0)		14/19		Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF300,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	64555981	64555981	G	C	1	0	0	0	0	1	0	0	0	15141	1165	41	4		4	SMURF2	17	64555981	Missense_Mutation	SNP	G	C3N-00294_TP	24021	64555981	18701460	1072	14574	320	2									
SMURF2	0	.	GRCh38	chr17	64555986	64555986	+	Missense_Mutation	SNP	A	A	T																															tcgtccaacaaagtggaaatAggataaatgttcctgaaatt																								novel		C3N-00294_TP	C3N-00294_NB	A	A																c.1444T>A	p.Tyr482Asn	p.Y482N	ENST00000262435	14/19	40	32	8	55	55	0	strelka-varscan-mutect	SMURF2,missense_variant,p.Tyr482Asn,ENST00000262435,NM_022739.3;SMURF2,missense_variant,p.Tyr469Asn,ENST00000585301,;SMURF2,downstream_gene_variant,,ENST00000578200,;SMURF2,3_prime_UTR_variant,,ENST00000582081,;SMURF2,3_prime_UTR_variant,,ENST00000578386,;SMURF2,downstream_gene_variant,,ENST00000580072,;	T	ENST00000262435	Transcript	missense_variant	1632/2918	1444/2247	482/748	Y/N	Tat/Aat		1		-1	SMURF2	HGNC	HGNC:16809	protein_coding	YES	CCDS32707.1	ENSP00000262435	Q9HAU4		UPI00001361C5	NM_022739.3	deleterious(0)		14/19		Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF300,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	64555986	64555986	A	T	1	0	0	0	0	1	0	0	0	15141	420	15	4		4	SMURF2	17	64555986	Missense_Mutation	SNP	A	C3N-00294_TP	5	64555986	18701455	1073	14575	320	2									
HELZ	0	.	GRCh38	chr17	67145870	67145870	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccatcagtttgccctcaTagaaaagctcagaggtataa	13	10	9	9	0	3	2	3	0	0	2	3	2	3	2	2	2	2	3	2	2	5	4			C3N-00294_TP	C3N-00294_NB	T	T																c.2642A>G	p.Tyr881Cys	p.Y881C	ENST00000358691	21/33	302	152	150	274	274	0	strelka-varscan-mutect	HELZ,missense_variant,p.Tyr881Cys,ENST00000358691,NM_014877.3;HELZ,missense_variant,p.Tyr882Cys,ENST00000580168,;HELZ,missense_variant,p.Tyr882Cys,ENST00000579953,;	C	ENST00000358691	Transcript	missense_variant	2809/13810	2642/5829	881/1942	Y/C	tAt/tGt	COSM5499591	1		-1	HELZ	HGNC	HGNC:16878	protein_coding	YES	CCDS42374.1	ENSP00000351524	P42694		UPI000013D7F5	NM_014877.3	deleterious(0)		21/33		Gene3D:3.40.50.300,Pfam_domain:PF13087,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF365,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	46	67145870	67145870	T	C	1	0	0	0	0	1	0	0	0	6931	1406	49	5		5	HELZ	17	67145870	Missense_Mutation	SNP	T	C3N-00294_TP	2589884	67145870	16111571	1074	14576											
PRKAR1A	0	.	GRCh38	chr17	68522903	68522903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaggtctacacggaggaaGatgcggcatcctatgttaga	11	9	13	8	2	1	3	0	1	1	2	2	5	2	5	1	4	2	2	1	4	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.325G>A	p.Asp109Asn	p.D109N	ENST00000392711	3/11	231	190	41	201	201	0	strelka-varscan-mutect	PRKAR1A,missense_variant,p.Asp109Asn,ENST00000392711,NM_212472.2,NM_002734.4;PRKAR1A,missense_variant,p.Asp109Asn,ENST00000589228,NM_001278433.1;PRKAR1A,missense_variant,p.Asp109Asn,ENST00000536854,NM_001276289.1;PRKAR1A,missense_variant,p.Asp109Asn,ENST00000358598,NM_212471.2;PRKAR1A,missense_variant,p.Asp109Asn,ENST00000586397,;PRKAR1A,missense_variant,p.Asp109Asn,ENST00000588188,NM_001276290.1;PRKAR1A,missense_variant,p.Asp109Asn,ENST00000589017,;PRKAR1A,missense_variant,p.Asp109Asn,ENST00000585981,;PRKAR1A,missense_variant,p.Asp109Asn,ENST00000588702,;PRKAR1A,missense_variant,p.Asp109Asn,ENST00000588178,;PRKAR1A,missense_variant,p.Asp109Asn,ENST00000585427,;PRKAR1A,missense_variant,p.Asp109Asn,ENST00000589480,;PRKAR1A,upstream_gene_variant,,ENST00000592800,;PRKAR1A,downstream_gene_variant,,ENST00000585815,;RP11-120M18.2,non_coding_transcript_exon_variant,,ENST00000590353,;PRKAR1A,missense_variant,p.Asp109Asn,ENST00000585608,;PRKAR1A,synonymous_variant,p.=,ENST00000392710,;PRKAR1A,non_coding_transcript_exon_variant,,ENST00000585460,;PRKAR1A,upstream_gene_variant,,ENST00000586541,;PRKAR1A,upstream_gene_variant,,ENST00000585907,;	A	ENST00000392711	Transcript	missense_variant	532/4327	325/1146	109/381	D/N	Gat/Aat		1		1	PRKAR1A	HGNC	HGNC:9388	protein_coding	YES	CCDS11678.1	ENSP00000376475	P10644	B2R5T5	UPI0000001C57	NM_212472.2,NM_002734.4	deleterious(0.04)		3/11		hmmpanther:PTHR11635:SF129,hmmpanther:PTHR11635,PIRSF_domain:PIRSF000548																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	68522903	68522903	G	A	1	0	0	0	0	1	0	0	0	12636	942	33	3		3	PRKAR1A	17	68522903	Missense_Mutation	SNP	G	C3N-00294_TP	1377033	68522903	14734538	1075	14577											
LLGL2	0	.	GRCh38	chr17	75569996	75569996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aactgaatgacgaggcagcgGagcaggctgtggagcaggtg	11	5	18	7	2	0	2	0	2	0	0	0	5	0	4	0	5	4	4	0	5	2	0	rs541727805		C3N-00294_TP	C3N-00294_NB	G	G																c.1615G>A	p.Glu539Lys	p.E539K	ENST00000392550	15/26	105	89	16	76	76	0	strelka-varscan-mutect	LLGL2,missense_variant,p.Glu539Lys,ENST00000392550,NM_001031803.1;LLGL2,missense_variant,p.Glu539Lys,ENST00000167462,NM_004524.2;LLGL2,missense_variant,p.Glu539Lys,ENST00000577200,;LLGL2,3_prime_UTR_variant,,ENST00000578638,;LLGL2,3_prime_UTR_variant,,ENST00000578719,;LLGL2,non_coding_transcript_exon_variant,,ENST00000545227,;LLGL2,non_coding_transcript_exon_variant,,ENST00000577500,;LLGL2,upstream_gene_variant,,ENST00000579092,;LLGL2,upstream_gene_variant,,ENST00000582393,;LLGL2,upstream_gene_variant,,ENST00000577211,;LLGL2,upstream_gene_variant,,ENST00000578034,;LLGL2,upstream_gene_variant,,ENST00000583514,;	A	ENST00000392550	Transcript	missense_variant	1732/3509	1615/3063	539/1020	E/K	Gag/Aag	rs541727805	1		1	LLGL2	HGNC	HGNC:6629	protein_coding	YES	CCDS32733.1	ENSP00000376333	Q6P1M3		UPI00005905A8	NM_001031803.1	deleterious(0.04)		15/26		Gene3D:2.130.10.10,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF20,Low_complexity_(Seg):seg,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		rs541727805	.												A	3	1	46	75569996	75569996	G	A	1	0	0	0	0	1	0	0	0	8758	1175	41	3		3	LLGL2	17	75569996	Missense_Mutation	SNP	G	C3N-00294_TP	7047093	75569996	7687445	1076	14578											
LLGL2	0	.	GRCh38	chr17	75570176	75570176	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccttggccctgcactctGagtggcggctcgtggccttc	2	11	12	16	2	1	1	0	1	1	0	4	1	2	1	4	4	1	2	4	4	0	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1795G>C	p.Glu599Gln	p.E599Q	ENST00000392550	15/26	214	174	40	197	197	0	strelka-varscan-mutect	LLGL2,missense_variant,p.Glu599Gln,ENST00000392550,NM_001031803.1;LLGL2,missense_variant,p.Glu599Gln,ENST00000167462,NM_004524.2;LLGL2,missense_variant,p.Glu599Gln,ENST00000577200,;LLGL2,3_prime_UTR_variant,,ENST00000578638,;LLGL2,3_prime_UTR_variant,,ENST00000578719,;LLGL2,non_coding_transcript_exon_variant,,ENST00000545227,;LLGL2,non_coding_transcript_exon_variant,,ENST00000577500,;LLGL2,upstream_gene_variant,,ENST00000579092,;LLGL2,upstream_gene_variant,,ENST00000582393,;LLGL2,upstream_gene_variant,,ENST00000577211,;LLGL2,upstream_gene_variant,,ENST00000578034,;LLGL2,upstream_gene_variant,,ENST00000583514,;	C	ENST00000392550	Transcript	missense_variant	1912/3509	1795/3063	599/1020	E/Q	Gag/Cag		1		1	LLGL2	HGNC	HGNC:6629	protein_coding	YES	CCDS32733.1	ENSP00000376333	Q6P1M3		UPI00005905A8	NM_001031803.1	deleterious(0.01)		15/26		Gene3D:2.130.10.10,Prints_domain:PR00962,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF20,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	75570176	75570176	G	C	1	0	0	0	0	1	0	0	0	8758	1291	45	4		4	LLGL2	17	75570176	Missense_Mutation	SNP	G	C3N-00294_TP	180	75570176	7687265	1077	14579											
LLGL2	0	.	GRCh38	chr17	75571040	75571040	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcgaggctcgctcggcaGaggactccttcacaggcttc	8	8	12	13	3	1	2	1	0	0	2	6	4	2	3	1	4	0	4	1	4	0	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2116G>C	p.Glu706Gln	p.E706Q	ENST00000392550	17/26	178	153	25	148	148	0	strelka-varscan-mutect	LLGL2,missense_variant,p.Glu706Gln,ENST00000392550,NM_001031803.1;LLGL2,missense_variant,p.Glu706Gln,ENST00000167462,NM_004524.2;LLGL2,missense_variant,p.Glu706Gln,ENST00000577200,;LLGL2,3_prime_UTR_variant,,ENST00000578638,;LLGL2,non_coding_transcript_exon_variant,,ENST00000545227,;LLGL2,non_coding_transcript_exon_variant,,ENST00000577500,;LLGL2,upstream_gene_variant,,ENST00000579092,;LLGL2,downstream_gene_variant,,ENST00000578719,;LLGL2,upstream_gene_variant,,ENST00000582393,;LLGL2,upstream_gene_variant,,ENST00000577211,;LLGL2,upstream_gene_variant,,ENST00000578034,;LLGL2,upstream_gene_variant,,ENST00000583514,;	C	ENST00000392550	Transcript	missense_variant	2233/3509	2116/3063	706/1020	E/Q	Gag/Cag		1		1	LLGL2	HGNC	HGNC:6629	protein_coding	YES	CCDS32733.1	ENSP00000376333	Q6P1M3		UPI00005905A8	NM_001031803.1	deleterious(0)		17/26		Prints_domain:PR00962,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	75571040	75571040	G	C	1	0	0	0	0	1	0	0	0	8758	943	33	4		4	LLGL2	17	75571040	Missense_Mutation	SNP	G	C3N-00294_TP	864	75571040	7686401	1078	14580											
SPHK1	0	.	GRCh38	chr17	76386220	76386220	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagctgccggtctccctgcaGagcggcggaaccacgcgcgg	6	5	15	15	6	1	1	0	0	1	1	2	2	1	2	3	4	5	2	3	4	2	1	rs55664828		C3N-00294_TP	C3N-00294_NB	G	G																c.422-1G>C		p.X141_splice	ENST00000323374		80	71	9	59	59	0	strelka-varscan-mutect	SPHK1,splice_acceptor_variant,,ENST00000545180,;SPHK1,splice_acceptor_variant,,ENST00000323374,NM_182965.2;SPHK1,splice_acceptor_variant,,ENST00000590959,NM_021972.3;SPHK1,splice_acceptor_variant,,ENST00000592299,NM_001142601.1;SPHK1,splice_acceptor_variant,,ENST00000392496,NM_001142602.1;SPHK1,splice_acceptor_variant,,ENST00000588682,;SPHK1,splice_acceptor_variant,,ENST00000590379,;UBE2O,downstream_gene_variant,,ENST00000319380,NM_022066.3;UBE2O,downstream_gene_variant,,ENST00000587127,;PRPSAP1,upstream_gene_variant,,ENST00000442767,;PRPSAP1,upstream_gene_variant,,ENST00000423915,;SPHK1,downstream_gene_variant,,ENST00000591651,;SPHK1,splice_acceptor_variant,,ENST00000591762,;SPHK1,splice_acceptor_variant,,ENST00000587167,;	C	ENST00000323374	Transcript	splice_acceptor_variant	-/2138	422/1413	141/470			rs55664828	1		1	SPHK1	HGNC	HGNC:11240	protein_coding	YES	CCDS11744.1	ENSP00000313681	Q9NYA1		UPI00001AF3B5	NM_182965.2				3/5																		HIGH	1	SNV	1			1										PASS		rs55664828	.												C	5	2	46	76386220	76386220	G	C	1	0	0	0	0	0	0	1	0	15397	956	33	4		4	SPHK1	17	76386220	Splice_Site	SNP	G	C3N-00294_TP	815180	76386220	6871221	1079	14581											
TNRC6C	0	.	GRCh38	chr17	78073052	78073052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacagagagagccagctgagGaggccttgaagagtaacaat	15	5	13	8	0	0	5	0	2	0	3	0	7	0	6	2	2	3	2	2	2	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2866G>A	p.Glu956Lys	p.E956K	ENST00000335749	7/21	142	123	19	139	139	0	strelka-varscan-mutect	TNRC6C,missense_variant,p.Glu956Lys,ENST00000335749,NM_001142640.1;TNRC6C,missense_variant,p.Glu959Lys,ENST00000301624,NM_018996.3;TNRC6C,missense_variant,p.Glu956Lys,ENST00000588847,;TNRC6C,missense_variant,p.Glu959Lys,ENST00000588061,;TNRC6C,missense_variant,p.Glu1166Lys,ENST00000636222,;TNRC6C,non_coding_transcript_exon_variant,,ENST00000591851,;TNRC6C,non_coding_transcript_exon_variant,,ENST00000587990,;	A	ENST00000335749	Transcript	missense_variant	3435/9740	2866/5181	956/1726	E/K	Gag/Aag		1		1	TNRC6C	HGNC	HGNC:29318	protein_coding	YES	CCDS45799.1	ENSP00000336783	Q9HCJ0		UPI0000EE5F80	NM_001142640.1	deleterious(0)		7/21		Gene3D:1.10.8.10,Pfam_domain:PF00627,PROSITE_profiles:PS50030,hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF9,SMART_domains:SM00165,Superfamily_domains:SSF46934																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	78073052	78073052	G	A	1	0	0	0	0	1	0	0	0	16815	1175	41	3		3	TNRC6C	17	78073052	Missense_Mutation	SNP	G	C3N-00294_TP	1686832	78073052	5184389	1080	14582											
AFMID	0	.	GRCh38	chr17	78187389	78187389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgatggatgtgtctggtGtgggtttcccaagcaaggtt	7	13	14	7	0	1	1	0	1	1	0	2	2	2	2	2	4	1	3	2	4	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.19G>A	p.Val7Met	p.V7M	ENST00000327898	1/11	226	195	31	175	175	0	strelka-varscan-mutect	AFMID,missense_variant,p.Val7Met,ENST00000409257,NM_001010982.4;AFMID,missense_variant,p.Val7Met,ENST00000327898,NM_001145526.2;AFMID,missense_variant,p.Val7Met,ENST00000588800,;AFMID,missense_variant,p.Val7Met,ENST00000591256,;AFMID,missense_variant,p.Val7Met,ENST00000591952,;AFMID,missense_variant,p.Val7Met,ENST00000589256,;AFMID,missense_variant,p.Val7Met,ENST00000586542,;TK1,upstream_gene_variant,,ENST00000588734,;TK1,upstream_gene_variant,,ENST00000301634,NM_003258.4;TK1,upstream_gene_variant,,ENST00000590430,;TK1,upstream_gene_variant,,ENST00000590862,;TK1,upstream_gene_variant,,ENST00000586613,;AFMID,upstream_gene_variant,,ENST00000586731,;AFMID,upstream_gene_variant,,ENST00000591538,;AFMID,missense_variant,p.Val7Met,ENST00000588199,;AFMID,missense_variant,p.Val7Met,ENST00000589107,;AFMID,non_coding_transcript_exon_variant,,ENST00000592988,;TK1,upstream_gene_variant,,ENST00000592126,;	A	ENST00000327898	Transcript	missense_variant	28/1700	19/927	7/308	V/M	Gtg/Atg		1		1	AFMID	HGNC	HGNC:20910	protein_coding	YES	CCDS45801.1	ENSP00000328938	Q63HM1		UPI000041A994	NM_001145526.2	tolerated_low_confidence(0.14)		1/11		hmmpanther:PTHR23024:SF163,hmmpanther:PTHR23024																	MODERATE	1	SNV	1			1										PASS		rs1295056045	.												A	3	1	46	78187389	78187389	G	A	1	0	0	0	0	1	0	0	0	439	1377	48	3		3	AFMID	17	78187389	Missense_Mutation	SNP	G	C3N-00294_TP	114337	78187389	5070052	1081	14583											
DNAH17	0	.	GRCh38	chr17	78572784	78572784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcctttgatcttgccactCatcacaaacatttcattctt	9	17	3	12	0	5	1	3	1	2	0	5	1	5	1	2	0	3	0	2	0	1	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.456G>A	p.Met152Ile	p.M152I	ENST00000389840	3/81	302	252	50	223	223	0	strelka-varscan-mutect	DNAH17,missense_variant,p.Met152Ile,ENST00000389840,NM_173628.3;DNAH17,missense_variant,p.Met152Ile,ENST00000585328,;DNAH17,upstream_gene_variant,,ENST00000589793,;	T	ENST00000389840	Transcript	missense_variant	581/13723	456/13389	152/4462	M/I	atG/atA		1		-1	DNAH17	HGNC	HGNC:2946	protein_coding	YES		ENSP00000374490	Q9UFH2		UPI0001B25601	NM_173628.3	tolerated(0.59)		3/81		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF284																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	78572784	78572784	C	T	1	0	0	0	0	1	0	0	0	4416	826	29	3		3	DNAH17	17	78572784	Missense_Mutation	SNP	C	C3N-00294_TP	385395	78572784	4684657	1082	14584											
CANT1	0	.	GRCh38	chr17	78997087	78997087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccccgtccggtcatccacgGagtagagtttcccattgaaa	9	9	9	14	3	1	2	1	1	0	1	4	3	4	3	5	2	0	2	5	2	2	3			C3N-00294_TP	C3N-00294_NB	G	G																c.536C>G	p.Ser179Cys	p.S179C	ENST00000302345	2/4	575	446	129	562	562	0	strelka-varscan-mutect	CANT1,missense_variant,p.Ser179Cys,ENST00000302345,NM_138793.3,NM_001159773.1;CANT1,missense_variant,p.Ser179Cys,ENST00000620915,;CANT1,missense_variant,p.Ser179Cys,ENST00000392446,;CANT1,missense_variant,p.Ser179Cys,ENST00000591773,NM_001159772.1;CANT1,downstream_gene_variant,,ENST00000588611,;CANT1,downstream_gene_variant,,ENST00000588075,;CANT1,downstream_gene_variant,,ENST00000586916,;CANT1,downstream_gene_variant,,ENST00000590370,;CANT1,downstream_gene_variant,,ENST00000591625,;CANT1,downstream_gene_variant,,ENST00000592033,;CANT1,downstream_gene_variant,,ENST00000591811,;CANT1,downstream_gene_variant,,ENST00000591732,;CANT1,downstream_gene_variant,,ENST00000592887,;CANT1,downstream_gene_variant,,ENST00000587242,;CANT1,missense_variant,p.Ser179Cys,ENST00000592228,;CANT1,upstream_gene_variant,,ENST00000588096,;	C	ENST00000302345	Transcript	missense_variant	1031/3534	536/1206	179/401	S/C	tCc/tGc	COSM324918	1		-1	CANT1	HGNC	HGNC:19721	protein_coding	YES	CCDS11760.1	ENSP00000307674	Q8WVQ1	A0A024R8U8	UPI00000734F8	NM_138793.3,NM_001159773.1	deleterious(0)		2/4		Superfamily_domains:0049295,Pfam_domain:PF06079,hmmpanther:PTHR13023											1						MODERATE	1	SNV	2		1	1										PASS		.	.												C	3	2	46	78997087	78997087	G	C	1	0	0	0	0	1	0	0	0	2310	1174	41	4		4	CANT1	17	78997087	Missense_Mutation	SNP	G	C3N-00294_TP	424303	78997087	4260354	1083	14585											
SGSH	0	.	GRCh38	chr17	80210944	80210944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggccagtgaggtggatggtCttcgagccaaagatggcgta	9	8	16	8	3	1	2	0	1	1	1	2	4	1	3	2	5	1	1	2	5	2	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1017G>A	p.=	p.K339K	ENST00000326317	8/8	216	178	38	192	192	0	strelka-varscan-mutect	SGSH,synonymous_variant,p.=,ENST00000326317,NM_000199.3;SGSH,3_prime_UTR_variant,,ENST00000576856,;SGSH,intron_variant,,ENST00000572257,;CARD14,downstream_gene_variant,,ENST00000573882,;CARD14,downstream_gene_variant,,ENST00000344227,NM_024110.4;SGSH,downstream_gene_variant,,ENST00000570923,;SGSH,downstream_gene_variant,,ENST00000570427,;SGSH,downstream_gene_variant,,ENST00000576707,;RP11-334C17.5,upstream_gene_variant,,ENST00000572730,;SGSH,downstream_gene_variant,,ENST00000572208,;SGSH,upstream_gene_variant,,ENST00000575484,;SGSH,upstream_gene_variant,,ENST00000571156,;SGSH,3_prime_UTR_variant,,ENST00000573150,;SGSH,non_coding_transcript_exon_variant,,ENST00000575282,;CARD14,downstream_gene_variant,,ENST00000575500,;SGSH,downstream_gene_variant,,ENST00000574505,;SGSH,downstream_gene_variant,,ENST00000576941,;SGSH,downstream_gene_variant,,ENST00000571675,;SGSH,downstream_gene_variant,,ENST00000575188,;SGSH,downstream_gene_variant,,ENST00000571051,;	T	ENST00000326317	Transcript	synonymous_variant	1104/2784	1017/1509	339/502	K	aaG/aaA		1		-1	SGSH	HGNC	HGNC:10818	protein_coding	YES	CCDS11770.1	ENSP00000314606	P51688		UPI000000DBD0	NM_000199.3			8/8		hmmpanther:PTHR10342:SF76,hmmpanther:PTHR10342,Gene3D:3.40.720.10,Superfamily_domains:SSF53649																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	80210944	80210944	C	T	1	0	0	0	0	0	0	0	1	14479	912	32	3		3	SGSH	17	80210944	Silent	SNP	C	C3N-00294_TP	1213857	80210944	3046497	1084	14586											
RNF213	0	.	GRCh38	chr17	80367810	80367810	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggccgtgatgcgcactctCtgtgaatgcaaggagacagc	10	7	14	10	2	1	3	0	2	1	1	2	5	1	3	1	2	3	2	1	2	2	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.11934C>G	p.=	p.L3978L	ENST00000582970	43/68	480	391	89	438	438	0	strelka-varscan-mutect	RNF213,synonymous_variant,p.=,ENST00000582970,NM_001256071.2;RNF213,synonymous_variant,p.=,ENST00000508628,;CTD-2047H16.4,intron_variant,,ENST00000575034,;CTD-2047H16.4,intron_variant,,ENST00000572151,;RNF213,non_coding_transcript_exon_variant,,ENST00000558116,;RNF213,upstream_gene_variant,,ENST00000411702,;RNF213,downstream_gene_variant,,ENST00000559603,;RNF213,downstream_gene_variant,,ENST00000558488,;	G	ENST00000582970	Transcript	synonymous_variant	12077/21055	11934/15624	3978/5207	L	ctC/ctG		1		1	RNF213	HGNC	HGNC:14539	protein_coding	YES	CCDS58606.1	ENSP00000464087		A0A0A0MTR7	UPI00043788D6	NM_001256071.2			43/68		hmmpanther:PTHR22605:SF5,hmmpanther:PTHR22605																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	46	80367810	80367810	C	G	1	0	0	0	0	0	0	0	1	13656	900	32	4		4	RNF213	17	80367810	Silent	SNP	C	C3N-00294_TP	156866	80367810	2889631	1085	14587											
AATK	0	.	GRCh38	chr17	81120422	81120422	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagcagcggagctcctcgtCagactcgtcgctgtcctcac	6	9	11	15	4	2	1	2	0	0	1	7	2	4	2	2	1	3	4	2	1	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3514G>C	p.Asp1172His	p.D1172H	ENST00000326724	11/14	64	59	5	45	45	0	strelka-mutect	AATK,missense_variant,p.Asp1172His,ENST00000326724,NM_001080395.2;AATK,missense_variant,p.Asp1069His,ENST00000417379,NM_004920.2;BAIAP2,downstream_gene_variant,,ENST00000321300,NM_017451.2;BAIAP2,downstream_gene_variant,,ENST00000575245,;BAIAP2,downstream_gene_variant,,ENST00000435091,NM_006340.2;BAIAP2,downstream_gene_variant,,ENST00000428708,NM_001144888.1;BAIAP2,downstream_gene_variant,,ENST00000572498,;MIR657,downstream_gene_variant,,ENST00000385003,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,downstream_gene_variant,,ENST00000573441,;AATK,3_prime_UTR_variant,,ENST00000374792,;AATK,intron_variant,,ENST00000570932,;AATK,intron_variant,,ENST00000573469,;BAIAP2,downstream_gene_variant,,ENST00000576225,;	G	ENST00000326724	Transcript	missense_variant	3539/5257	3514/4125	1172/1374	D/H	Gac/Cac		1		-1	AATK	HGNC	HGNC:21	protein_coding	YES	CCDS45807.1	ENSP00000324196	Q6ZMQ8		UPI000041EA63	NM_001080395.2	deleterious(0)		11/14		Low_complexity_(Seg):seg,hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF0																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	46	81120422	81120422	C	G	1	0	0	0	0	1	0	0	0	30	826	29	4		4	AATK	17	81120422	Missense_Mutation	SNP	C	C3N-00294_TP	752612	81120422	2137019	1086	14588											
PYCR1	0	.	GRCh38	chr17	81934385	81934385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggagcggaagcccccactCtccagcacatgcaaggcatg	11	4	12	14	1	1	0	0	0	1	0	2	2	1	2	3	3	4	3	3	3	2	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.819G>C	p.Glu273Asp	p.E273D	ENST00000402252	7/8	331	269	62	294	294	0	strelka-varscan-mutect	PYCR1,missense_variant,p.Glu246Asp,ENST00000619204,NM_001282280.1;PYCR1,missense_variant,p.Glu246Asp,ENST00000337943,NM_153824.2;PYCR1,missense_variant,p.Glu246Asp,ENST00000329875,NM_006907.3;PYCR1,missense_variant,p.Glu215Asp,ENST00000403172,NM_001282279.1;PYCR1,missense_variant,p.Glu273Asp,ENST00000402252,NM_001282281.1;PYCR1,missense_variant,p.Glu216Asp,ENST00000582198,;PYCR1,missense_variant,p.Glu246Asp,ENST00000405481,;PYCR1,intron_variant,,ENST00000629768,;PYCR1,intron_variant,,ENST00000577756,;PYCR1,intron_variant,,ENST00000584848,;PYCR1,downstream_gene_variant,,ENST00000585215,;PYCR1,downstream_gene_variant,,ENST00000579366,;PYCR1,downstream_gene_variant,,ENST00000585244,;PYCR1,downstream_gene_variant,,ENST00000579698,;PYCR1,downstream_gene_variant,,ENST00000581271,;PYCR1,downstream_gene_variant,,ENST00000577624,;PYCR1,downstream_gene_variant,,ENST00000583564,;MAFG-AS1,downstream_gene_variant,,ENST00000582106,;MAFG-AS1,downstream_gene_variant,,ENST00000583492,;RP11-498C9.13,downstream_gene_variant,,ENST00000583521,;	G	ENST00000402252	Transcript	missense_variant	845/1346	819/1041	273/346	E/D	gaG/gaC		1		-1	PYCR1	HGNC	HGNC:9721	protein_coding	YES	CCDS62366.1	ENSP00000384949	P32322		UPI00017A78A7	NM_001282281.1	deleterious(0)		7/8		HAMAP:MF_01925,hmmpanther:PTHR11645,hmmpanther:PTHR11645:SF6,PROSITE_patterns:PS00521,Gene3D:2ahrA02,TIGRFAM_domain:TIGR00112,Pfam_domain:PF14748,Superfamily_domains:SSF48179																	MODERATE		SNV	2			1										PASS		rs1285485127	.												G	3	3	46	81934385	81934385	C	G	1	0	0	0	0	1	0	0	0	13010	912	32	4		4	PYCR1	17	81934385	Missense_Mutation	SNP	C	C3N-00294_TP	813963	81934385	1323056	1087	14589											
NOTUM	0	.	GRCh38	chr17	81958363	81958363	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gacttggatgaagccccgctCcaaacatcactggagcagta	12	7	10	12	1	1	1	1	1	0	0	2	4	2	3	3	2	3	3	3	2	3	2	rs761507045		C3N-00294_TP	C3N-00294_NB	C	C																c.564G>C	p.Trp188Cys	p.W188C	ENST00000409678	5/11	226	189	37	209	209	0	strelka-varscan-mutect	NOTUM,missense_variant,p.Trp188Cys,ENST00000409678,NM_178493.5;NOTUM,missense_variant,p.Trp188Cys,ENST00000425009,;NOTUM,missense_variant,p.Trp46Cys,ENST00000477214,;NOTUM,downstream_gene_variant,,ENST00000489218,;	G	ENST00000409678	Transcript	missense_variant	948/2329	564/1491	188/496	W/C	tgG/tgC	rs761507045	1		-1	NOTUM	HGNC	HGNC:27106	protein_coding	YES	CCDS32771.2	ENSP00000387310	Q6P988		UPI000004EE80	NM_178493.5	deleterious(0)		5/11		hmmpanther:PTHR21562,hmmpanther:PTHR21562:SF7,Pfam_domain:PF03283																	MODERATE	1	SNV	1			1										PASS		rs761507045	.												G	3	3	46	81958363	81958363	C	G	1	0	0	0	0	1	0	0	0	10598	856	30	4		4	NOTUM	17	81958363	Missense_Mutation	SNP	C	C3N-00294_TP	23978	81958363	1299078	1088	14590											
SECTM1	0	.	GRCh38	chr17	82324800	82324800	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcagcttgatgttgacatggGagaaggcgttggagatgttg	9	11	17	4	1	0	4	0	2	0	2	0	6	0	4	0	3	1	5	0	3	1	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.185C>G	p.Ser62Cys	p.S62C	ENST00000269389	3/5	535	450	85	518	518	0	strelka-varscan-mutect	SECTM1,missense_variant,p.Ser62Cys,ENST00000269389,NM_003004.2;SECTM1,missense_variant,p.Ser62Cys,ENST00000580437,;SECTM1,missense_variant,p.Ser62Cys,ENST00000581691,;SECTM1,missense_variant,p.Ser62Cys,ENST00000582563,;SECTM1,missense_variant,p.Ser62Cys,ENST00000582290,;SECTM1,missense_variant,p.Ser62Cys,ENST00000583093,;SECTM1,downstream_gene_variant,,ENST00000581954,;SECTM1,intron_variant,,ENST00000581864,;	C	ENST00000269389	Transcript	missense_variant	536/2235	185/747	62/248	S/C	tCc/tGc		1		-1	SECTM1	HGNC	HGNC:10707	protein_coding	YES	CCDS11808.1	ENSP00000269389	Q8WVN6		UPI00000359A5	NM_003004.2	deleterious(0.02)		3/5		Gene3D:2.60.40.10,hmmpanther:PTHR15123,hmmpanther:PTHR15123:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	82324800	82324800	G	C	1	0	0	0	0	1	0	0	0	14285	1174	41	4		4	SECTM1	17	82324800	Missense_Mutation	SNP	G	C3N-00294_TP	366437	82324800	932641	1089	14591											
TBCD	0	.	GRCh38	chr17	82920561	82920561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttttttttccagtgtgtGttttaatagaaaagttgtca	9	22	7	3	0	1	1	1	0	0	1	2	1	2	1	1	0	0	2	1	0	4	9	rs182370230		C3N-00294_TP	C3N-00294_NB	G	G																c.2044G>C	p.Val682Leu	p.V682L	ENST00000355528	24/39	196	172	24	183	183	0	strelka-varscan-mutect	TBCD,missense_variant,p.Val682Leu,ENST00000355528,NM_005993.4;TBCD,missense_variant,p.Val682Leu,ENST00000539345,;TBCD,missense_variant,p.Val120Leu,ENST00000576760,;TBCD,missense_variant,p.Val120Leu,ENST00000576160,;TBCD,missense_variant,p.Val120Leu,ENST00000574422,;TBCD,missense_variant,p.Val141Leu,ENST00000574975,;TBCD,missense_variant,p.Val74Leu,ENST00000571712,;TBCD,missense_variant,p.Val120Leu,ENST00000576996,;TBCD,missense_variant,p.Val168Leu,ENST00000572953,;RP11-497H17.1,downstream_gene_variant,,ENST00000571113,;TBCD,non_coding_transcript_exon_variant,,ENST00000571618,;TBCD,non_coding_transcript_exon_variant,,ENST00000571796,;TBCD,non_coding_transcript_exon_variant,,ENST00000574818,;TBCD,upstream_gene_variant,,ENST00000574886,;	C	ENST00000355528	Transcript	missense_variant	2174/7168	2044/3579	682/1192	V/L	Gtt/Ctt	rs182370230	1		1	TBCD	HGNC	HGNC:11581	protein_coding	YES	CCDS45818.1	ENSP00000347719	Q9BTW9		UPI000020053F	NM_005993.4	tolerated(0.48)		24/39		hmmpanther:PTHR12658:SF0,hmmpanther:PTHR12658,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs182370230	.												C	3	2	46	82920561	82920561	G	C	1	0	0	0	0	1	0	0	0	16038	1391	48	4		4	TBCD	17	82920561	Missense_Mutation	SNP	G	C3N-00294_TP	595761	82920561	336880	1090	14592											
TMEM200C	0	.	GRCh38	chr18	5890362	5890362	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagctctgctccgcacccaGaacgggggcggccacagcag	8	3	14	16	4	1	1	0	0	1	1	2	2	2	1	3	3	4	4	3	3	1	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1702C>T	p.=	p.L568L	ENST00000581347	3/3	88	54	34	90	90	0	strelka-varscan-mutect	TMEM200C,synonymous_variant,p.=,ENST00000581347,;TMEM200C,synonymous_variant,p.=,ENST00000383490,NM_001080209.1;RP11-945C19.4,intron_variant,,ENST00000577694,;RP11-945C19.4,downstream_gene_variant,,ENST00000582939,;RP11-945C19.4,downstream_gene_variant,,ENST00000580845,;	A	ENST00000581347	Transcript	synonymous_variant	2348/10638	1702/1866	568/621	L	Ctg/Ttg		1		-1	TMEM200C	HGNC	HGNC:37208	protein_coding	YES	CCDS45825.1	ENSP00000463375	A6NKL6		UPI000020198E				3/3		hmmpanther:PTHR31815,hmmpanther:PTHR31815:SF2																	LOW		SNV	5			1										PASS		.	.												A	2	1	46	5890362	5890362	G	A	1	0	0	0	0	0	0	0	1	16564	933	33	3		3	TMEM200C	18	5890362	Silent	SNP	G	C3N-00294_TP		5890362	74482923	1091	14593											
ARHGAP28	0	.	GRCh38	chr18	6837388	6837388	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatctatcagggatgtcagaGacatttttggagtcagtgaa	13	12	11	5	0	4	2	3	1	1	1	4	5	4	4	0	2	0	0	0	2	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.40G>C	p.Asp14His	p.D14H	ENST00000419673	2/17	219	184	35	192	192	0	strelka-varscan-mutect	ARHGAP28,missense_variant,p.Asp14His,ENST00000419673,NM_001010000.2;ARHGAP28,missense_variant,p.Asp14His,ENST00000314319,;ARHGAP28,missense_variant,p.Asp121His,ENST00000262227,;ARHGAP28,missense_variant,p.Asp173His,ENST00000383472,;ARHGAP28,missense_variant,p.Asp14His,ENST00000531294,;ARHGAP28,missense_variant,p.Asp14His,ENST00000581099,;ARHGAP28,missense_variant,p.Asp105His,ENST00000584387,;ARHGAP28,downstream_gene_variant,,ENST00000532723,;ARHGAP28,missense_variant,p.Asp14His,ENST00000577524,;ARHGAP28,missense_variant,p.Asp14His,ENST00000584287,;	C	ENST00000419673	Transcript	missense_variant	257/5492	40/1713	14/570	D/H	Gac/Cac		1		1	ARHGAP28	HGNC	HGNC:25509	protein_coding	YES	CCDS32785.1	ENSP00000392660	Q9P2N2		UPI00004CEC5C	NM_001010000.2	deleterious(0)		2/17		hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	6837388	6837388	G	C	1	0	0	0	0	1	0	0	0	1002	942	33	4		4	ARHGAP28	18	6837388	Missense_Mutation	SNP	G	C3N-00294_TP	947026	6837388	73535897	1092	14594											
PIEZO2	0	.	GRCh38	chr18	10715669	10715669	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttaatttctctggtcAgcatgcatcgttcaattctc	7	17	5	12	1	5	0	2	0	3	0	8	0	5	0	1	1	2	3	1	1	2	5	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.5063T>A	p.Leu1688Gln	p.L1688Q	ENST00000503781	35/52	57	33	24	70	70	0	strelka-varscan-mutect	PIEZO2,missense_variant,p.Leu1639Gln,ENST00000383408,;PIEZO2,missense_variant,p.Leu1688Gln,ENST00000302079,;PIEZO2,missense_variant,p.Leu1713Gln,ENST00000580640,;PIEZO2,missense_variant,p.Leu1688Gln,ENST00000503781,NM_022068.3;PIEZO2,3_prime_UTR_variant,,ENST00000582913,;	T	ENST00000503781	Transcript	missense_variant	5063/8259	5063/8259	1688/2752	L/Q	cTg/cAg		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3	deleterious(0)		35/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	10715669	10715669	A	T	1	0	0	0	0	1	0	0	0	11975	188	7	4		4	PIEZO2	18	10715669	Missense_Mutation	SNP	A	C3N-00294_TP	3878281	10715669	69657616	1093	14595											
RNMT	0	.	GRCh38	chr18	13731548	13731548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcaaaagcagaagaatatGaaaagatgtctcttgaacag	18	8	9	6	0	1	5	0	2	1	3	2	5	1	5	0	0	3	2	0	0	8	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.31G>A	p.Glu11Lys	p.E11K	ENST00000592764	3/12	30	25	5	71	71	0	strelka-varscan-mutect	RNMT,missense_variant,p.Glu11Lys,ENST00000383314,NM_003799.1;RNMT,missense_variant,p.Glu11Lys,ENST00000262173,;RNMT,missense_variant,p.Glu11Lys,ENST00000592764,NM_001308263.1;RNMT,missense_variant,p.Glu11Lys,ENST00000589866,;RNMT,missense_variant,p.Glu11Lys,ENST00000543302,;RNMT,missense_variant,p.Glu11Lys,ENST00000591746,;FAM210A,upstream_gene_variant,,ENST00000322247,;FAM210A,upstream_gene_variant,,ENST00000402563,NM_001098801.1,NM_152352.3;FAM210A,upstream_gene_variant,,ENST00000592976,;FAM210A,upstream_gene_variant,,ENST00000591269,;FAM210A,upstream_gene_variant,,ENST00000585785,;RNMT,intron_variant,,ENST00000588457,;	A	ENST00000592764	Transcript	missense_variant	228/4108	31/1515	11/504	E/K	Gaa/Aaa		1		1	RNMT	HGNC	HGNC:10075	protein_coding	YES	CCDS77156.1	ENSP00000466111	O43148		UPI00000705F3	NM_001308263.1	tolerated_low_confidence(0.21)		3/12		hmmpanther:PTHR12189																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	46	13731548	13731548	G	A	1	0	0	0	0	1	0	0	0	13686	1291	45	3		3	RNMT	18	13731548	Missense_Mutation	SNP	G	C3N-00294_TP	3015879	13731548	66641737	1094	14596											
RIOK3	0	.	GRCh38	chr18	23477027	23477027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgcggcagttatatcatGaatgtacgcttgtccatgct	9	14	10	8	2	1	2	1	2	0	0	2	2	2	2	1	1	3	5	1	1	4	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1195G>A	p.Glu399Lys	p.E399K	ENST00000339486	10/13	161	128	33	178	178	0	strelka-varscan-mutect	RIOK3,missense_variant,p.Glu399Lys,ENST00000339486,NM_003831.3;RIOK3,missense_variant,p.Glu383Lys,ENST00000581585,;RIOK3,missense_variant,p.Glu399Lys,ENST00000577501,;RIOK3,upstream_gene_variant,,ENST00000577250,;RIOK3,3_prime_UTR_variant,,ENST00000584130,;RIOK3,non_coding_transcript_exon_variant,,ENST00000581302,;RIOK3,non_coding_transcript_exon_variant,,ENST00000581339,;RIOK3,upstream_gene_variant,,ENST00000581220,;	A	ENST00000339486	Transcript	missense_variant	1812/4038	1195/1560	399/519	E/K	Gaa/Aaa		1		1	RIOK3	HGNC	HGNC:11451	protein_coding	YES	CCDS11877.1	ENSP00000341874	O14730	B0YJ89	UPI000013C732	NM_003831.3	tolerated(0.24)		10/13		hmmpanther:PTHR10593,hmmpanther:PTHR10593:SF22,Pfam_domain:PF01163,PIRSF_domain:PIRSF038146,Gene3D:1.10.510.10,SMART_domains:SM00090,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	23477027	23477027	G	A	1	0	0	0	0	1	0	0	0	13553	1291	45	3		3	RIOK3	18	23477027	Missense_Mutation	SNP	G	C3N-00294_TP	9745479	23477027	56896258	1095	14597											
PSMA8	0	.	GRCh38	chr18	26178890	26178890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctagaaaagaattacacaGaagatgccatagcaagtgac	18	8	8	7	0	1	5	0	1	1	4	1	5	1	5	1	0	3	1	1	0	8	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.556G>A	p.Glu186Lys	p.E186K	ENST00000308268	5/7	133	110	23	198	198	0	strelka-varscan-mutect	PSMA8,missense_variant,p.Glu186Lys,ENST00000308268,NM_144662.2;PSMA8,missense_variant,p.Glu142Lys,ENST00000343848,NM_001025097.1;PSMA8,missense_variant,p.Glu154Lys,ENST00000612461,NM_001308188.1;PSMA8,missense_variant,p.Glu180Lys,ENST00000415576,NM_001025096.1;PSMA8,3_prime_UTR_variant,,ENST00000538664,;	A	ENST00000308268	Transcript	missense_variant	645/1804	556/771	186/256	E/K	Gaa/Aaa		1		1	PSMA8	HGNC	HGNC:22985	protein_coding	YES	CCDS32808.1	ENSP00000311121	Q8TAA3		UPI000013ECFF	NM_144662.2	tolerated(0.11)		5/7		PROSITE_profiles:PS51475,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF47,Pfam_domain:PF00227,Gene3D:3.60.20.10,Superfamily_domains:SSF56235																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	26178890	26178890	G	A	1	0	0	0	0	1	0	0	0	12824	943	33	3		3	PSMA8	18	26178890	Missense_Mutation	SNP	G	C3N-00294_TP	2701863	26178890	54194395	1096	14598											
DSG4	0	.	GRCh38	chr18	31391147	31391147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcagatggactgtcttctGagtgtgactgtagaatcaag	10	12	12	7	0	3	4	1	2	2	2	3	5	3	5	0	1	1	2	0	1	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.754G>C	p.Glu252Gln	p.E252Q	ENST00000359747	7/15	404	327	77	445	445	0	strelka-varscan-mutect	DSG4,missense_variant,p.Glu252Gln,ENST00000359747,NM_001134453.1;DSG4,missense_variant,p.Glu252Gln,ENST00000308128,NM_177986.3;DSG1-AS1,intron_variant,,ENST00000581856,;DSG1-AS1,intron_variant,,ENST00000578477,;DSG1-AS1,intron_variant,,ENST00000581452,;	C	ENST00000359747	Transcript	missense_variant	783/4526	754/3180	252/1059	E/Q	Gag/Cag		1		1	DSG4	HGNC	HGNC:21307	protein_coding	YES	CCDS45845.1	ENSP00000352785	Q86SJ6		UPI000035DB4E	NM_001134453.1	tolerated(1)		7/15		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF10,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs1213919986	.												C	3	2	46	31391147	31391147	G	C	1	0	0	0	0	1	0	0	0	4600	1291	45	4		4	DSG4	18	31391147	Missense_Mutation	SNP	G	C3N-00294_TP	5212257	31391147	48982138	1097	14599											
MEP1B	0	.	GRCh38	chr18	32213364	32213364	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctaaaggttatgcctttCagatttacttaaatctagcc	11	16	5	9	0	3	1	1	0	2	1	3	1	3	1	2	1	3	1	2	1	7	8	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1384C>T	p.Gln462Ter	p.Q462*	ENST00000269202	11/15	251	213	38	320	320	0	strelka-varscan-mutect	MEP1B,stop_gained,p.Gln462Ter,ENST00000269202,NM_005925.2;MEP1B,stop_gained,p.Gln462Ter,ENST00000581447,NM_001308171.1;GAREM1,intron_variant,,ENST00000583696,;	T	ENST00000269202	Transcript	stop_gained	1431/2312	1384/2106	462/701	Q/*	Cag/Tag		1		1	MEP1B	HGNC	HGNC:7020	protein_coding	YES	CCDS45846.1	ENSP00000269202	Q16820		UPI0000201B8B	NM_005925.2			11/15		Gene3D:2.60.210.10,PIRSF_domain:PIRSF001196,PROSITE_profiles:PS50144,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF312,SMART_domains:SM00061,Superfamily_domains:SSF49599																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	46	32213364	32213364	C	T	1	0	0	0	0	0	1	0	0	9421	827	29	3		3	MEP1B	18	32213364	Nonsense_Mutation	SNP	C	C3N-00294_TP	822217	32213364	48159921	1098	14600											
CCDC178	0	.	GRCh38	chr18	33333378	33333378	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaattctataacatcactCaaataggcctcatgttctag	13	14	5	9	0	5	0	3	0	2	0	5	0	5	0	1	1	1	2	1	1	6	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.675G>C	p.Leu225Phe	p.L225F	ENST00000583930	9/23	39	33	6	87	87	0	strelka-varscan-mutect	CCDC178,missense_variant,p.Leu225Phe,ENST00000383096,;CCDC178,missense_variant,p.Leu225Phe,ENST00000403303,NM_001105528.1;CCDC178,missense_variant,p.Leu225Phe,ENST00000583930,;CCDC178,missense_variant,p.Leu225Phe,ENST00000300227,NM_198995.2;CCDC178,missense_variant,p.Leu225Phe,ENST00000406524,;CCDC178,missense_variant,p.Leu225Phe,ENST00000579947,;CCDC178,intron_variant,,ENST00000579916,;CCDC178,missense_variant,p.Leu225Phe,ENST00000399177,;CCDC178,non_coding_transcript_exon_variant,,ENST00000577268,;	G	ENST00000583930	Transcript	missense_variant	754/3094	675/2676	225/891	L/F	ttG/ttC		1		-1	CCDC178	HGNC	HGNC:29588	protein_coding	YES	CCDS77174.1	ENSP00000463254		F8W7A7	UPI00020655A5		tolerated(0.08)		9/23		hmmpanther:PTHR35088:SF1,hmmpanther:PTHR35088																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	33333378	33333378	C	G	1	0	0	0	0	1	0	0	0	2493	825	29	4		4	CCDC178	18	33333378	Missense_Mutation	SNP	C	C3N-00294_TP	1120014	33333378	47039907	1099	14601											
SETBP1	0	.	GRCh38	chr18	44952694	44952694	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcatggagtacacctgcaGggacctgttagcatgggcct	10	8	13	10	0	0	0	0	0	0	0	0	2	0	2	3	3	4	5	3	3	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3354G>A	p.=	p.Q1118Q	ENST00000282030	4/6	325	191	134	358	358	0	strelka-varscan-mutect	SETBP1,synonymous_variant,p.=,ENST00000282030,NM_015559.2;	A	ENST00000282030	Transcript	synonymous_variant	3650/9899	3354/4791	1118/1596	Q	caG/caA		1		1	SETBP1	HGNC	HGNC:15573	protein_coding	YES	CCDS11923.2	ENSP00000282030	Q9Y6X0		UPI0000201C54	NM_015559.2			4/6		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF342																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	44952694	44952694	G	A	1	0	0	0	0	0	0	0	1	14406	991	35	3		3	SETBP1	18	44952694	Silent	SNP	G	C3N-00294_TP	11619316	44952694	35420591	1100	14602											
ZNF532	0	.	GRCh38	chr18	58953614	58953614	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caactcaaaattcagcaaatCagaacaaagaggacaccaaa	22	4	5	10	0	3	2	3	0	0	2	3	3	3	3	1	1	3	1	1	1	7	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2965C>G	p.Gln989Glu	p.Q989E	ENST00000336078	8/11	191	162	29	193	193	0	strelka-varscan-mutect	ZNF532,missense_variant,p.Gln989Glu,ENST00000336078,NM_001318726.1,NM_001318727.1,NM_001318728.1,NM_018181.4;ZNF532,missense_variant,p.Gln989Glu,ENST00000589288,;ZNF532,missense_variant,p.Gln989Glu,ENST00000591083,;ZNF532,missense_variant,p.Gln989Glu,ENST00000591808,;ZNF532,missense_variant,p.Gln989Glu,ENST00000591230,;ZNF532,intron_variant,,ENST00000586997,;ZNF532,non_coding_transcript_exon_variant,,ENST00000592249,;ZNF532,missense_variant,p.Gln49Glu,ENST00000585662,;	G	ENST00000336078	Transcript	missense_variant	3741/6696	2965/3906	989/1301	Q/E	Cag/Gag		1		1	ZNF532	HGNC	HGNC:30940	protein_coding	YES	CCDS11969.1	ENSP00000338217	Q9HCE3	A0A024R283	UPI000013D30C	NM_001318726.1,NM_001318727.1,NM_001318728.1,NM_018181.4	tolerated(1)		8/11		hmmpanther:PTHR26374,hmmpanther:PTHR26374:SF204																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	58953614	58953614	C	G	1	0	0	0	0	1	0	0	0	18545	827	29	4		4	ZNF532	18	58953614	Missense_Mutation	SNP	C	C3N-00294_TP	14000920	58953614	21419671	1101	14603											
CDH20	0	.	GRCh38	chr18	61490658	61490658	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaccaccgttctctcggaCaccccaacaccacaaggtga	12	5	7	17	3	1	1	0	1	1	0	3	3	1	2	5	2	1	1	5	2	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.105C>T	p.=	p.D35D	ENST00000262717	2/12	342	294	48	344	344	0	strelka-varscan-mutect	CDH20,synonymous_variant,p.=,ENST00000262717,;CDH20,synonymous_variant,p.=,ENST00000536675,NM_031891.2;CDH20,synonymous_variant,p.=,ENST00000538374,;	T	ENST00000262717	Transcript	synonymous_variant	503/3882	105/2406	35/801	D	gaC/gaT		1		1	CDH20	HGNC	HGNC:1760	protein_coding	YES	CCDS11977.1	ENSP00000262717	Q9HBT6		UPI000013D30D				2/12																			LOW	1	SNV	2			1										PASS		.	.												T	2	4	46	61490658	61490658	C	T	1	0	0	0	0	0	0	0	1	2809	477	17	3		3	CDH20	18	61490658	Silent	SNP	C	C3N-00294_TP	2537044	61490658	18882627	1102	14604											
SERPINB11	0	.	GRCh38	chr18	63720954	63720954	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaattaagcatgattattCtgcttccagtaggcatagct	13	13	7	8	0	1	1	0	1	1	0	2	1	2	1	1	1	3	5	1	1	5	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.481C>T	p.=	p.L161L	ENST00000623262	4/5	140	116	24	170	170	0	strelka-varscan-mutect	SERPINB11,synonymous_variant,p.=,ENST00000382749,NM_080475.3;SERPINB11,synonymous_variant,p.=,ENST00000544088,;SERPINB11,synonymous_variant,p.=,ENST00000623262,NM_001291278.1;SERPINB11,intron_variant,,ENST00000624518,;SERPINB11,downstream_gene_variant,,ENST00000489748,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000467649,;SERPINB11,3_prime_UTR_variant,,ENST00000536691,;SERPINB11,downstream_gene_variant,,ENST00000610304,;	T	ENST00000623262	Transcript	synonymous_variant	481/918	481/918	161/305	L	Ctg/Ttg		1		1	SERPINB11	HGNC	HGNC:14221	protein_coding	YES	CCDS77196.1	ENSP00000485532		A0A096LPD5	UPI0003EAEE70	NM_001291278.1			4/5		hmmpanther:PTHR11461:SF199,hmmpanther:PTHR11461,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	63720954	63720954	C	T	1	0	0	0	0	0	0	0	1	14374	912	32	3		3	SERPINB11	18	63720954	Silent	SNP	C	C3N-00294_TP	2230296	63720954	16652331	1103	14605											
DSEL	0	.	GRCh38	chr18	67513255	67513255	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaatccaggaatatggctGaaaatgaactatgtcataca	17	10	7	7	0	2	2	2	2	0	0	3	3	3	3	1	2	2	1	1	2	8	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1384C>T	p.Gln462Ter	p.Q462*	ENST00000310045	2/2	208	167	41	218	218	0	strelka-varscan-mutect	DSEL,stop_gained,p.Gln462Ter,ENST00000310045,NM_032160.2;RP11-638L3.1,upstream_gene_variant,,ENST00000583687,;CTD-2541J13.2,non_coding_transcript_exon_variant,,ENST00000583493,;CTD-2541J13.2,downstream_gene_variant,,ENST00000581951,;	A	ENST00000310045	Transcript	stop_gained	2858/9531	1384/3669	462/1222	Q/*	Cag/Tag		1		-1	DSEL	HGNC	HGNC:18144	protein_coding	YES	CCDS11995.1	ENSP00000310565	Q8IZU8		UPI00000740A1	NM_032160.2			2/2		hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2																	HIGH		SNV	2			1										PASS		.	.												A	4	1	46	67513255	67513255	G	A	1	0	0	0	0	0	1	0	0	4596	1299	45	3		3	DSEL	18	67513255	Nonsense_Mutation	SNP	G	C3N-00294_TP	3792301	67513255	12860030	1104	14606											
SOCS6	0	.	GRCh38	chr18	70325968	70325968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacacttcacactagaattGagcactcaaatggtaggttt	15	11	7	8	0	2	2	2	1	0	1	2	2	2	2	0	2	2	3	0	2	5	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1300G>A	p.Glu434Lys	p.E434K	ENST00000397942	2/2	179	142	37	189	189	0	strelka-varscan-mutect	SOCS6,missense_variant,p.Glu434Lys,ENST00000397942,NM_004232.3;SOCS6,missense_variant,p.Glu434Lys,ENST00000582322,;SOCS6,downstream_gene_variant,,ENST00000578377,;	A	ENST00000397942	Transcript	missense_variant	1616/5848	1300/1608	434/535	E/K	Gag/Aag		1		1	SOCS6	HGNC	HGNC:16833	protein_coding	YES	CCDS11998.1	ENSP00000381034	O14544	A0A024R379	UPI0000072C28	NM_004232.3	deleterious(0)		2/2		PROSITE_profiles:PS50001,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF83,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	70325968	70325968	G	A	1	0	0	0	0	1	0	0	0	15239	1291	45	3		3	SOCS6	18	70325968	Missense_Mutation	SNP	G	C3N-00294_TP	2812713	70325968	10047317	1105	14607											
C2CD4C	0	.	GRCh38	chr19	407097	407097	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcgagcaggtccccgctcTacaggaaggggagcagggag	10	3	17	11	2	1	0	0	0	1	0	2	4	2	3	2	5	4	3	2	5	2	1	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.1265A>T	p.Ter422LeuextTer135	p.*422Lext*135	ENST00000332235	2/2	77	60	17	61	61	0	strelka-varscan-mutect	C2CD4C,stop_lost,p.Ter422LeuextTer135,ENST00000332235,NM_001136263.1;	A	ENST00000332235	Transcript	stop_lost	1470/3129	1265/1266	422/421	*/L	tAg/tTg		1		-1	C2CD4C	HGNC	HGNC:29417	protein_coding	YES	CCDS45890.1	ENSP00000328677	Q8TF44		UPI00001C2016	NM_001136263.1			2/2																			HIGH	1	SNV	2			1										PASS		.	.												A	4	1	46	407097	407097	T	A	1	0	0	0	0	0	0	0	0	2028	1535	53	4		4	C2CD4C	19	407097	Nonstop_Mutation	SNP	T	C3N-00294_TP		407097	58210519	1106	14608											
TPGS1	0	.	GRCh38	chr19	519084	519084	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccacgaggcggtgccgctGagcgtcttccgcgcgggcac	5	5	16	15	7	1	1	0	1	1	0	2	3	2	1	3	3	2	2	3	3	0	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.534G>C	p.=	p.L178L	ENST00000359315	2/2	205	168	37	173	173	0	strelka-varscan-mutect	TPGS1,synonymous_variant,p.=,ENST00000359315,NM_033513.2;	C	ENST00000359315	Transcript	synonymous_variant	544/1114	534/873	178/290	L	ctG/ctC		1		1	TPGS1	HGNC	HGNC:25058	protein_coding	YES	CCDS42454.1	ENSP00000352265	Q6ZTW0		UPI0000202E14	NM_033513.2			2/2		hmmpanther:PTHR31932																	LOW	1	SNV	1			1										PASS		rs900984739	.												C	2	2	46	519084	519084	G	C	1	0	0	0	0	0	0	0	1	16880	1277	45	4		4	TPGS1	19	519084	Silent	SNP	G	C3N-00294_TP	111987	519084	58098532	1107	14609											
ARHGAP45	0	.	GRCh38	chr19	1083182	1083182	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacaacaagatgacccccggGaacctgggcatcgtgttcgg	10	6	13	12	3	0	2	0	1	0	1	2	4	0	3	3	3	2	2	3	3	3	1			C3N-00294_TP	C3N-00294_NB	G	G																c.2832G>A	p.=	p.G944G	ENST00000539243	21/23	385	317	68	375	375	0	strelka-varscan-mutect	ARHGAP45,synonymous_variant,p.=,ENST00000313093,NM_012292.4;ARHGAP45,synonymous_variant,p.=,ENST00000590214,;ARHGAP45,synonymous_variant,p.=,ENST00000539243,NM_001258328.2;ARHGAP45,synonymous_variant,p.=,ENST00000586866,;ARHGAP45,synonymous_variant,p.=,ENST00000543365,NM_001282335.1;ARHGAP45,synonymous_variant,p.=,ENST00000590577,NM_001282334.1;POLR2E,downstream_gene_variant,,ENST00000615234,NM_001316324.1,NM_001316323.1,NM_002695.3;POLR2E,downstream_gene_variant,,ENST00000612655,;POLR2E,downstream_gene_variant,,ENST00000586746,;ARHGAP45,non_coding_transcript_exon_variant,,ENST00000590512,;ARHGAP45,3_prime_UTR_variant,,ENST00000587602,;ARHGAP45,non_coding_transcript_exon_variant,,ENST00000592297,;ARHGAP45,non_coding_transcript_exon_variant,,ENST00000586378,;ARHGAP45,intron_variant,,ENST00000591169,;POLR2E,downstream_gene_variant,,ENST00000586817,;POLR2E,downstream_gene_variant,,ENST00000215587,;POLR2E,downstream_gene_variant,,ENST00000591767,;POLR2E,downstream_gene_variant,,ENST00000589737,;POLR2E,downstream_gene_variant,,ENST00000590060,;ARHGAP45,downstream_gene_variant,,ENST00000591293,;ARHGAP45,downstream_gene_variant,,ENST00000586937,;	A	ENST00000539243	Transcript	synonymous_variant	2935/4184	2832/3459	944/1152	G	ggG/ggA	COSM3821868,COSM3821869	1		1	ARHGAP45	HGNC	HGNC:17102	protein_coding	YES	CCDS58637.1	ENSP00000439601	Q92619		UPI0001AE63E1	NM_001258328.2			21/23		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF18,SMART_domains:SM00324,Superfamily_domains:SSF48350											1,1						LOW		SNV	2		1,1	1										PASS		.	.												A	2	1	46	1083182	1083182	G	A	1	0	0	0	0	0	0	0	1	1015	1161	41	3		3	ARHGAP45	19	1083182	Silent	SNP	G	C3N-00294_TP	564098	1083182	57534434	1108	14610											
APC2	0	.	GRCh38	chr19	1456387	1456387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgaggatggcacccctCagccgggcaacagcaaggtg	10	4	13	14	1	1	1	1	1	0	0	1	2	1	2	4	4	3	3	4	4	2	0			C3N-00294_TP	C3N-00294_NB	C	C																c.799C>A	p.Gln267Lys	p.Q267K	ENST00000535453	7/14	139	122	17	127	126	1	strelka-varscan-mutect	APC2,missense_variant,p.Gln267Lys,ENST00000535453,;APC2,missense_variant,p.Gln267Lys,ENST00000233607,NM_005883.2;APC2,missense_variant,p.Gln266Lys,ENST00000238483,;APC2,missense_variant,p.Gln267Lys,ENST00000590469,;C19orf25,downstream_gene_variant,,ENST00000588427,;APC2,downstream_gene_variant,,ENST00000590877,;APC2,downstream_gene_variant,,ENST00000587869,;APC2,downstream_gene_variant,,ENST00000587149,;CTB-25B13.12,downstream_gene_variant,,ENST00000591252,;APC2,non_coding_transcript_exon_variant,,ENST00000593146,;	A	ENST00000535453	Transcript	missense_variant	2512/11656	799/6912	267/2303	Q/K	Cag/Aag	COSM4848247	1		1	APC2	HGNC	HGNC:24036	protein_coding	YES	CCDS12068.1	ENSP00000442954	O95996		UPI0000073D85		tolerated(0.08)		7/14		hmmpanther:PTHR12607:SF3,hmmpanther:PTHR12607											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	46	1456387	1456387	C	A	1	0	0	0	0	1	0	0	0	884	827	29	2		2	APC2	19	1456387	Missense_Mutation	SNP	C	C3N-00294_TP	373205	1456387	57161229	1109	14611											
KLF16	0	.	GRCh38	chr19	1863073	1863073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggtgcgactttaggtgcGaggacttgtagtaggctttg	7	12	16	6	2	0	0	0	0	0	0	0	3	0	1	0	4	2	4	0	4	3	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.425C>T	p.Ser142Leu	p.S142L	ENST00000250916	1/2	172	145	27	144	144	0	strelka-varscan-mutect	KLF16,missense_variant,p.Ser142Leu,ENST00000250916,NM_031918.3;KLF16,missense_variant,p.Ser142Leu,ENST00000617223,;KLF16,upstream_gene_variant,,ENST00000592313,;CTB-31O20.8,downstream_gene_variant,,ENST00000586694,;KLF16,missense_variant,p.Ser142Leu,ENST00000541015,;	A	ENST00000250916	Transcript	missense_variant	496/2890	425/759	142/252	S/L	tCg/tTg		1		-1	KLF16	HGNC	HGNC:16857	protein_coding	YES	CCDS12075.1	ENSP00000250916	Q9BXK1		UPI0000126B0D	NM_031918.3	deleterious(0)		1/2		PROSITE_profiles:PS50157,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		rs1334678718	.												A	3	1	46	1863073	1863073	G	A	1	0	0	0	0	1	0	0	0	8209	1059	37	1		1	KLF16	19	1863073	Missense_Mutation	SNP	G	C3N-00294_TP	406686	1863073	56754543	1110	14612											
ZNF57	0	.	GRCh38	chr19	2916108	2916108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaatttaaagccaatgggtCagtttctctgcaggatatgt	11	14	9	7	0	3	0	2	0	1	0	4	1	3	1	1	2	2	2	1	2	5	4			C3N-00294_TP	C3N-00294_NB	C	C																c.161C>T	p.Ser54Leu	p.S54L	ENST00000306908	3/4	89	73	16	72	72	0	strelka-varscan-mutect	ZNF57,missense_variant,p.Ser54Leu,ENST00000306908,NM_001319083.1,NM_173480.2;ZNF57,missense_variant,p.Ser54Leu,ENST00000614108,;ZNF57,missense_variant,p.Ser22Leu,ENST00000523428,;ZNF57,missense_variant,p.Ser22Leu,ENST00000522294,;ZNF57,missense_variant,p.Ser22Leu,ENST00000590305,;AC006277.2,intron_variant,,ENST00000520090,;	T	ENST00000306908	Transcript	missense_variant	309/2003	161/1668	54/555	S/L	tCa/tTa	COSM994326	1		1	ZNF57	HGNC	HGNC:13125	protein_coding	YES	CCDS12098.1	ENSP00000303696	Q68EA5	A5HJR3	UPI000006FE5C	NM_001319083.1,NM_173480.2	tolerated(0.18)		3/4		PROSITE_profiles:PS50805,SMART_domains:SM00349											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	46	2916108	2916108	C	T	1	0	0	0	0	1	0	0	0	18575	838	29	3		3	ZNF57	19	2916108	Missense_Mutation	SNP	C	C3N-00294_TP	1053035	2916108	55701508	1111	14613											
TJP3	0	.	GRCh38	chr19	3733844	3733844	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctaagcctgctggtgctgaGagatcgtgggcagttcctgg	6	10	16	9	1	0	2	0	1	0	1	2	3	1	2	2	3	3	5	2	3	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.836G>C	p.Arg279Thr	p.R279T	ENST00000589378	7/21	322	270	52	276	276	0	strelka-varscan-mutect	TJP3,missense_variant,p.Arg270Thr,ENST00000541714,NM_001267560.1;TJP3,missense_variant,p.Arg279Thr,ENST00000589378,NM_001267561.1;TJP3,missense_variant,p.Arg289Thr,ENST00000587686,;TJP3,missense_variant,p.Arg234Thr,ENST00000539908,;TJP3,downstream_gene_variant,,ENST00000590545,;TJP3,downstream_gene_variant,,ENST00000587912,;	C	ENST00000589378	Transcript	missense_variant	992/3068	836/2787	279/928	R/T	aGa/aCa		1		1	TJP3	HGNC	HGNC:11829	protein_coding	YES	CCDS59332.1	ENSP00000465419	O95049		UPI00003E3015	NM_001267561.1	deleterious(0)		7/21		Gene3D:2.30.42.10,Prints_domain:PR01597,PROSITE_profiles:PS50106,hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF11,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	46	3733844	3733844	G	C	1	0	0	0	0	1	0	0	0	16373	942	33	4		4	TJP3	19	3733844	Missense_Mutation	SNP	G	C3N-00294_TP	817736	3733844	54883772	1112	14614											
PIAS4	0	.	GRCh38	chr19	4024064	4024064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaacgagaagcttcaggaGagcccgtgcatcttcgcatt	12	8	10	11	3	2	2	1	0	1	2	3	4	2	2	1	1	5	3	1	1	3	3			C3N-00294_TP	C3N-00294_NB	G	G																c.483G>C	p.Glu161Asp	p.E161D	ENST00000262971	3/11	261	212	49	220	220	0	strelka-varscan-mutect	PIAS4,missense_variant,p.Glu161Asp,ENST00000262971,NM_015897.3;PIAS4,non_coding_transcript_exon_variant,,ENST00000596144,;PIAS4,intron_variant,,ENST00000599999,;PIAS4,non_coding_transcript_exon_variant,,ENST00000600566,;PIAS4,upstream_gene_variant,,ENST00000601439,;	C	ENST00000262971	Transcript	missense_variant	598/3159	483/1533	161/510	E/D	gaG/gaC	COSM3533836	1		1	PIAS4	HGNC	HGNC:17002	protein_coding	YES	CCDS12118.1	ENSP00000262971	Q8N2W9		UPI0000073C15	NM_015897.3	tolerated(0.09)		3/11		Pfam_domain:PF14324,PROSITE_profiles:PS51466,hmmpanther:PTHR10782,hmmpanther:PTHR10782:SF9											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	46	4024064	4024064	G	C	1	0	0	0	0	1	0	0	0	11968	933	33	4		4	PIAS4	19	4024064	Missense_Mutation	SNP	G	C3N-00294_TP	290220	4024064	54593552	1113	14615											
CREB3L3	0	.	GRCh38	chr19	4171097	4171097	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgtctctctaaggtccctCttggagcaactgaagaaact	10	11	8	12	0	3	2	0	1	3	1	5	3	4	3	2	2	3	1	2	2	4	2			C3N-00294_TP	C3N-00294_NB	C	C																c.897C>G	p.=	p.L299L	ENST00000078445	8/10	556	473	83	465	465	0	strelka-varscan-mutect	CREB3L3,missense_variant,p.Leu264Val,ENST00000602147,NM_001271997.1;CREB3L3,synonymous_variant,p.=,ENST00000078445,NM_032607.2;CREB3L3,synonymous_variant,p.=,ENST00000595923,NM_001271995.1;CREB3L3,synonymous_variant,p.=,ENST00000602257,NM_001271996.1;SIRT6,downstream_gene_variant,,ENST00000337491,NM_016539.2;SIRT6,downstream_gene_variant,,ENST00000594279,NM_001321064.1;SIRT6,downstream_gene_variant,,ENST00000305232,NM_001193285.1;SIRT6,downstream_gene_variant,,ENST00000601488,NM_001321063.1;SIRT6,downstream_gene_variant,,ENST00000597896,;SIRT6,downstream_gene_variant,,ENST00000601571,;CREB3L3,non_coding_transcript_exon_variant,,ENST00000598894,;SIRT6,downstream_gene_variant,,ENST00000596119,;SIRT6,downstream_gene_variant,,ENST00000600938,NM_001321058.1;SIRT6,downstream_gene_variant,,ENST00000600540,;SIRT6,downstream_gene_variant,,ENST00000599365,NM_001321061.1;SIRT6,downstream_gene_variant,,ENST00000601069,;SIRT6,downstream_gene_variant,,ENST00000595670,;SIRT6,downstream_gene_variant,,ENST00000596298,;SIRT6,downstream_gene_variant,,ENST00000599394,;	G	ENST00000078445	Transcript	synonymous_variant	1044/2618	897/1386	299/461	L	ctC/ctG	COSM3971011	1		1	CREB3L3	HGNC	HGNC:18855	protein_coding	YES	CCDS12121.1	ENSP00000078445	Q68CJ9		UPI000006FCF0	NM_032607.2			8/10		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00170,PROSITE_profiles:PS50217,hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF98,SMART_domains:SM00338,Superfamily_domains:SSF57959											1						LOW	1	SNV	1		1	1										PASS		rs1041364646	.												G	2	3	46	4171097	4171097	C	G	1	0	0	0	0	0	0	0	1	3658	913	32	4		4	CREB3L3	19	4171097	Silent	SNP	C	C3N-00294_TP	147033	4171097	54446519	1114	14616											
KDM4B	0	.	GRCh38	chr19	5135373	5135373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaaggaggcacccatagcctCcctcggagagggctgcccgg	8	4	15	14	2	0	1	0	0	0	1	2	4	1	2	4	5	2	2	4	5	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2120C>G	p.Ser707Cys	p.S707C	ENST00000159111	15/23	231	182	49	190	190	0	strelka-varscan-mutect	KDM4B,missense_variant,p.Ser741Cys,ENST00000611640,;KDM4B,missense_variant,p.Ser707Cys,ENST00000159111,NM_015015.2;KDM4B,missense_variant,p.Ser741Cys,ENST00000536461,;KDM4B,missense_variant,p.Ser453Cys,ENST00000588361,;KDM4B,upstream_gene_variant,,ENST00000588166,;KDM4B,non_coding_transcript_exon_variant,,ENST00000589104,;	G	ENST00000159111	Transcript	missense_variant	2338/5593	2120/3291	707/1096	S/C	tCc/tGc		1		1	KDM4B	HGNC	HGNC:29136	protein_coding	YES	CCDS12138.1	ENSP00000159111		A0A0C4DFL8	UPI000023B7FC	NM_015015.2	deleterious(0.03)		15/23		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF30																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	5135373	5135373	C	G	1	0	0	0	0	1	0	0	0	8047	855	30	4		4	KDM4B	19	5135373	Missense_Mutation	SNP	C	C3N-00294_TP	964276	5135373	53482243	1115	14617											
LONP1	0	.	GRCh38	chr19	5699087	5699087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctgaagcggaagtactctCggttcagggcgcgggcgatg	7	7	17	10	6	2	1	1	1	1	0	3	3	2	2	0	4	2	3	0	4	3	2	rs748047263		C3N-00294_TP	C3N-00294_NB	C	C																c.1625G>A	p.Arg542Gln	p.R542Q	ENST00000360614	10/18	99	68	31	79	79	0	strelka-varscan-mutect	LONP1,missense_variant,p.Arg542Gln,ENST00000360614,NM_004793.3;LONP1,missense_variant,p.Arg346Gln,ENST00000540670,NM_001276480.1;LONP1,missense_variant,p.Arg478Gln,ENST00000593119,NM_001276479.1;LONP1,missense_variant,p.Arg428Gln,ENST00000585374,;LONP1,missense_variant,p.Arg412Gln,ENST00000590729,;LONP1,missense_variant,p.Arg199Gln,ENST00000590206,;LONP1,upstream_gene_variant,,ENST00000589473,;LONP1,downstream_gene_variant,,ENST00000587365,;LONP1,3_prime_UTR_variant,,ENST00000590558,;LONP1,non_coding_transcript_exon_variant,,ENST00000587552,;LONP1,downstream_gene_variant,,ENST00000588589,;	T	ENST00000360614	Transcript	missense_variant	1783/3236	1625/2880	542/959	R/Q	cGa/cAa	rs748047263,COSM1680539,COSM567900	1		-1	LONP1	HGNC	HGNC:9479	protein_coding	YES	CCDS12148.1	ENSP00000353826	P36776		UPI000012E7EF	NM_004793.3	deleterious(0)		10/18		Gene3D:3.40.50.300,HAMAP:MF_03120,Pfam_domain:PF00004,Prints_domain:PR00830,hmmpanther:PTHR10046,hmmpanther:PTHR10046:SF50,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00763											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs748047263	.												T	3	4	46	5699087	5699087	C	T	1	0	0	0	0	1	0	0	0	8794	884	31	1		1	LONP1	19	5699087	Missense_Mutation	SNP	C	C3N-00294_TP	563714	5699087	52918529	1116	14618											
LONP1	0	.	GRCh38	chr19	5705930	5705930	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggcccagctccttcttGatgatctttagctgctcctg	5	14	8	14	0	2	2	0	2	2	0	5	2	5	2	4	1	3	3	4	1	1	4	rs764862589		C3N-00294_TP	C3N-00294_NB	G	G																c.1209C>T	p.=	p.I403I	ENST00000360614	8/18	325	265	60	255	255	0	strelka-varscan-mutect	LONP1,synonymous_variant,p.=,ENST00000360614,NM_004793.3;LONP1,synonymous_variant,p.=,ENST00000540670,NM_001276480.1;LONP1,synonymous_variant,p.=,ENST00000593119,NM_001276479.1;LONP1,synonymous_variant,p.=,ENST00000585374,;LONP1,synonymous_variant,p.=,ENST00000590729,;LONP1,synonymous_variant,p.=,ENST00000590206,;LONP1,synonymous_variant,p.=,ENST00000587365,;LONP1,3_prime_UTR_variant,,ENST00000590558,;LONP1,non_coding_transcript_exon_variant,,ENST00000587552,;LONP1,non_coding_transcript_exon_variant,,ENST00000591321,;LONP1,non_coding_transcript_exon_variant,,ENST00000588589,;LONP1,downstream_gene_variant,,ENST00000586617,;	A	ENST00000360614	Transcript	synonymous_variant	1367/3236	1209/2880	403/959	I	atC/atT	rs764862589,COSM567898	1		-1	LONP1	HGNC	HGNC:9479	protein_coding	YES	CCDS12148.1	ENSP00000353826	P36776		UPI000012E7EF	NM_004793.3			8/18		HAMAP:MF_03120,hmmpanther:PTHR10046,hmmpanther:PTHR10046:SF50,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00763											0,1						LOW	1	SNV	1		0,1	1										PASS		rs764862589	.												A	2	1	46	5705930	5705930	G	A	1	0	0	0	0	0	0	0	1	8794	1280	45	3		3	LONP1	19	5705930	Silent	SNP	G	C3N-00294_TP	6843	5705930	52911686	1117	14619											
LONP1	0	.	GRCh38	chr19	5705972	5705972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaggtacttacggtgggtCtgcttgatcttctcctccac	6	13	10	12	1	3	1	0	1	3	0	5	1	4	1	2	3	4	3	2	3	2	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1167G>C	p.Gln389His	p.Q389H	ENST00000360614	8/18	187	159	28	141	141	0	strelka-varscan-mutect	LONP1,missense_variant,p.Gln389His,ENST00000360614,NM_004793.3;LONP1,missense_variant,p.Gln193His,ENST00000540670,NM_001276480.1;LONP1,missense_variant,p.Gln325His,ENST00000593119,NM_001276479.1;LONP1,missense_variant,p.Gln275His,ENST00000585374,;LONP1,missense_variant,p.Gln259His,ENST00000590729,;LONP1,missense_variant,p.Gln46His,ENST00000590206,;LONP1,intron_variant,,ENST00000587365,;LONP1,3_prime_UTR_variant,,ENST00000590558,;LONP1,non_coding_transcript_exon_variant,,ENST00000587552,;LONP1,non_coding_transcript_exon_variant,,ENST00000591321,;LONP1,non_coding_transcript_exon_variant,,ENST00000588589,;LONP1,downstream_gene_variant,,ENST00000586617,;	G	ENST00000360614	Transcript	missense_variant	1325/3236	1167/2880	389/959	Q/H	caG/caC		1		-1	LONP1	HGNC	HGNC:9479	protein_coding	YES	CCDS12148.1	ENSP00000353826	P36776		UPI000012E7EF	NM_004793.3	deleterious(0)		8/18		HAMAP:MF_03120,hmmpanther:PTHR10046,hmmpanther:PTHR10046:SF50,TIGRFAM_domain:TIGR00763																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	5705972	5705972	C	G	1	0	0	0	0	1	0	0	0	8794	912	32	4		4	LONP1	19	5705972	Missense_Mutation	SNP	C	C3N-00294_TP	42	5705972	52911644	1118	14620											
C3	0	.	GRCh38	chr19	6712299	6712299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggggtgtgtgttgatgctGagtttggccacgccatctcc	4	13	14	10	1	1	2	0	2	1	0	2	2	1	2	3	3	1	3	3	3	0	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1227C>T	p.=	p.L409L	ENST00000245907	11/41	375	326	49	330	330	0	strelka-varscan-mutect	C3,synonymous_variant,p.=,ENST00000245907,NM_000064.3;CTD-3128G10.7,downstream_gene_variant,,ENST00000614781,;C3,non_coding_transcript_exon_variant,,ENST00000594270,;C3,downstream_gene_variant,,ENST00000597442,;C3,downstream_gene_variant,,ENST00000595577,;C3,upstream_gene_variant,,ENST00000600763,;	A	ENST00000245907	Transcript	synonymous_variant	1320/5263	1227/4992	409/1663	L	ctC/ctT		1		-1	C3	HGNC	HGNC:1318	protein_coding	YES	CCDS32883.1	ENSP00000245907	P01024	V9HWA9	UPI000013EC9B	NM_000064.3			11/41		hmmpanther:PTHR11412:SF90,hmmpanther:PTHR11412																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	6712299	6712299	G	A	1	0	0	0	0	0	0	0	1	2057	1277	45	3		3	C3	19	6712299	Silent	SNP	G	C3N-00294_TP	1006327	6712299	51905317	1119	14621											
ARHGEF18	0	.	GRCh38	chr19	7441666	7441666	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactcagaccaatcacaggaGagatggatgaagccgattct	14	7	10	10	1	3	3	2	1	1	2	3	7	3	5	2	2	1	0	2	2	2	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.556G>C	p.Glu186Gln	p.E186Q	ENST00000359920	2/20	188	161	27	140	140	0	strelka-varscan-mutect	ARHGEF18,missense_variant,p.Glu186Gln,ENST00000359920,NM_001130955.1;ARHGEF18,missense_variant,p.Glu28Gln,ENST00000319670,NM_015318.3;CTD-2207O23.3,missense_variant,p.Glu120Gln,ENST00000617428,;ARHGEF18,missense_variant,p.Glu28Gln,ENST00000599752,;ARHGEF18,upstream_gene_variant,,ENST00000595600,;	C	ENST00000359920	Transcript	missense_variant	809/5733	556/3522	186/1173	E/Q	Gag/Cag		1		1	ARHGEF18	HGNC	HGNC:17090	protein_coding	YES	CCDS45946.1	ENSP00000352995	Q6ZSZ5		UPI0000D6170D	NM_001130955.1	tolerated(0.12)		2/20		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF120																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	46	7441666	7441666	G	C	1	0	0	0	0	1	0	0	0	1031	943	33	4		4	ARHGEF18	19	7441666	Missense_Mutation	SNP	G	C3N-00294_TP	729367	7441666	51175950	1120	14622											
PNPLA6	0	.	GRCh38	chr19	7541610	7541610	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagagaatggtcagcacctCagctacagacgagcccaggg	13	4	12	12	1	2	2	2	0	0	2	2	4	2	2	2	2	4	2	2	2	3	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1121C>G	p.Ser374Ter	p.S374*	ENST00000414982	11/34	324	282	42	293	293	0	strelka-varscan-mutect	PNPLA6,stop_gained,p.Ser326Ter,ENST00000221249,NM_006702.4;PNPLA6,stop_gained,p.Ser374Ter,ENST00000414982,NM_001166111.1;PNPLA6,stop_gained,p.Ser326Ter,ENST00000545201,NM_001166112.1;PNPLA6,stop_gained,p.Ser326Ter,ENST00000450331,NM_001166113.1;PNPLA6,stop_gained,p.Ser365Ter,ENST00000600737,NM_001166114.1;PNPLA6,stop_gained,p.Ser206Ter,ENST00000595264,;PNPLA6,stop_gained,p.Ser185Ter,ENST00000594551,;PNPLA6,downstream_gene_variant,,ENST00000601001,;PNPLA6,downstream_gene_variant,,ENST00000601668,;PNPLA6,downstream_gene_variant,,ENST00000593924,;PNPLA6,downstream_gene_variant,,ENST00000600942,;PNPLA6,non_coding_transcript_exon_variant,,ENST00000599311,;PNPLA6,non_coding_transcript_exon_variant,,ENST00000595176,;CTD-2207O23.10,downstream_gene_variant,,ENST00000601870,;PNPLA6,upstream_gene_variant,,ENST00000595889,;PNPLA6,downstream_gene_variant,,ENST00000598462,;PNPLA6,downstream_gene_variant,,ENST00000602191,;	G	ENST00000414982	Transcript	stop_gained	1316/4522	1121/4128	374/1375	S/*	tCa/tGa		1		1	PNPLA6	HGNC	HGNC:16268	protein_coding	YES	CCDS54206.1	ENSP00000407509	Q8IY17		UPI0001AE63FF	NM_001166111.1			11/34		hmmpanther:PTHR14226,hmmpanther:PTHR14226:SF26																	HIGH	1	SNV	2			1										PASS		.	.												G	4	3	46	7541610	7541610	C	G	1	0	0	0	0	0	1	0	0	12277	838	29	4		4	PNPLA6	19	7541610	Nonsense_Mutation	SNP	C	C3N-00294_TP	99944	7541610	51076006	1121	14623											
CAMSAP3	0	.	GRCh38	chr19	7616608	7616608	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaataacctcggggtgaaGaggcccacgtctcggtgagt	10	7	13	11	3	1	3	0	2	1	1	3	3	1	3	2	4	1	0	2	4	3	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3279G>C	p.Lys1093Asn	p.K1093N	ENST00000446248	16/19	221	180	41	207	207	0	strelka-varscan-mutect	CAMSAP3,missense_variant,p.Lys1093Asn,ENST00000446248,NM_001080429.2;CAMSAP3,missense_variant,p.Lys1066Asn,ENST00000160298,NM_020902.1;XAB2,downstream_gene_variant,,ENST00000358368,NM_020196.2;MIR6792,upstream_gene_variant,,ENST00000614460,;CAMSAP3,non_coding_transcript_exon_variant,,ENST00000595692,;CAMSAP3,non_coding_transcript_exon_variant,,ENST00000593434,;XAB2,downstream_gene_variant,,ENST00000595288,;XAB2,downstream_gene_variant,,ENST00000600230,;XAB2,downstream_gene_variant,,ENST00000596134,;	C	ENST00000446248	Transcript	missense_variant	3380/4179	3279/3831	1093/1276	K/N	aaG/aaC		1		1	CAMSAP3	HGNC	HGNC:29307	protein_coding	YES	CCDS45947.1	ENSP00000416797	Q9P1Y5		UPI0000161861	NM_001080429.2	tolerated(0.06)		16/19		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	7616608	7616608	G	C	1	0	0	0	0	1	0	0	0	2305	933	33	4		4	CAMSAP3	19	7616608	Missense_Mutation	SNP	G	C3N-00294_TP	74998	7616608	51001008	1122	14624											
STXBP2	0	.	GRCh38	chr19	7639047	7639047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggatcacccaagcatgcGcatcttgtcttcctgctgca	8	11	8	14	1	3	0	1	0	2	0	4	1	4	1	2	1	4	4	2	1	1	2	rs200306463		C3N-00294_TP	C3N-00294_NB	G	G																c.116G>C	p.Arg39Pro	p.R39P	ENST00000441779	3/19	617	312	305	646	646	0	strelka-varscan-mutect	STXBP2,missense_variant,p.Arg39Pro,ENST00000441779,NM_001272034.1;STXBP2,missense_variant,p.Arg39Pro,ENST00000221283,NM_006949.3;STXBP2,missense_variant,p.Arg39Pro,ENST00000414284,NM_001127396.2;STXBP2,missense_variant,p.Arg39Pro,ENST00000595950,;STXBP2,missense_variant,p.Arg7Pro,ENST00000593535,;STXBP2,upstream_gene_variant,,ENST00000612033,;STXBP2,upstream_gene_variant,,ENST00000600702,;CTD-3214H19.6,upstream_gene_variant,,ENST00000601797,;STXBP2,missense_variant,p.Arg39Pro,ENST00000597068,;STXBP2,missense_variant,p.Arg23Pro,ENST00000599737,;CTD-3214H19.4,3_prime_UTR_variant,,ENST00000595866,;CTD-3214H19.4,3_prime_UTR_variant,,ENST00000599243,;STXBP2,non_coding_transcript_exon_variant,,ENST00000597467,;STXBP2,non_coding_transcript_exon_variant,,ENST00000595181,;STXBP2,non_coding_transcript_exon_variant,,ENST00000599905,;CTD-3214H19.4,intron_variant,,ENST00000598664,;STXBP2,upstream_gene_variant,,ENST00000599400,;STXBP2,upstream_gene_variant,,ENST00000594221,;STXBP2,upstream_gene_variant,,ENST00000599648,;STXBP2,upstream_gene_variant,,ENST00000595861,;	C	ENST00000441779	Transcript	missense_variant	153/1914	116/1815	39/604	R/P	cGc/cCc	rs200306463,CM106813,COSM1003332	1		1	STXBP2	HGNC	HGNC:11445	protein_coding	YES	CCDS62522.1	ENSP00000413606	Q15833		UPI0001AE6405	NM_001272034.1	deleterious(0)		3/19		hmmpanther:PTHR11679:SF27,hmmpanther:PTHR11679,PIRSF_domain:PIRSF005715,Gene3D:3.40.50.2060,Pfam_domain:PF00995,Superfamily_domains:SSF56815											0,0,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs200306463	.												C	3	2	46	7639047	7639047	G	C	1	0	0	0	0	1	0	0	0	15737	1087	38	4		4	STXBP2	19	7639047	Missense_Mutation	SNP	G	C3N-00294_TP	22439	7639047	50978569	1123	14625											
STXBP2	0	.	GRCh38	chr19	7643209	7643209	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgattgtatgaagcacttCaagggctcggtggagaagct	11	10	14	6	1	1	3	1	2	0	1	2	5	1	3	0	3	2	4	0	3	4	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1104C>G	p.Phe368Leu	p.F368L	ENST00000441779	13/19	414	388	26	391	391	0	strelka-varscan-mutect	STXBP2,missense_variant,p.Phe368Leu,ENST00000441779,NM_001272034.1;STXBP2,missense_variant,p.Phe357Leu,ENST00000221283,NM_006949.3;STXBP2,missense_variant,p.Phe354Leu,ENST00000414284,NM_001127396.2;STXBP2,missense_variant,p.Phe52Leu,ENST00000600702,;STXBP2,downstream_gene_variant,,ENST00000612033,;STXBP2,upstream_gene_variant,,ENST00000602355,;STXBP2,downstream_gene_variant,,ENST00000595950,;STXBP2,downstream_gene_variant,,ENST00000593535,;STXBP2,3_prime_UTR_variant,,ENST00000599737,;STXBP2,non_coding_transcript_exon_variant,,ENST00000594221,;STXBP2,non_coding_transcript_exon_variant,,ENST00000595861,;STXBP2,intron_variant,,ENST00000597068,;STXBP2,upstream_gene_variant,,ENST00000595800,;STXBP2,downstream_gene_variant,,ENST00000597467,;STXBP2,upstream_gene_variant,,ENST00000599400,;CTD-3214H19.4,downstream_gene_variant,,ENST00000595866,;STXBP2,upstream_gene_variant,,ENST00000601061,;STXBP2,upstream_gene_variant,,ENST00000593854,;STXBP2,downstream_gene_variant,,ENST00000595181,;STXBP2,downstream_gene_variant,,ENST00000599905,;CTD-3214H19.4,downstream_gene_variant,,ENST00000599243,;CTD-3214H19.4,downstream_gene_variant,,ENST00000598664,;STXBP2,downstream_gene_variant,,ENST00000599648,;STXBP2,upstream_gene_variant,,ENST00000599558,;STXBP2,upstream_gene_variant,,ENST00000599278,;	G	ENST00000441779	Transcript	missense_variant	1141/1914	1104/1815	368/604	F/L	ttC/ttG		1		1	STXBP2	HGNC	HGNC:11445	protein_coding	YES	CCDS62522.1	ENSP00000413606	Q15833		UPI0001AE6405	NM_001272034.1	deleterious(0)		13/19		hmmpanther:PTHR11679:SF27,hmmpanther:PTHR11679,PIRSF_domain:PIRSF005715,Pfam_domain:PF00995,Gene3D:3.90.830.10,Superfamily_domains:SSF56815																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	46	7643209	7643209	C	G	1	0	0	0	0	1	0	0	0	15737	825	29	4		4	STXBP2	19	7643209	Missense_Mutation	SNP	C	C3N-00294_TP	4162	7643209	50974407	1124	14626											
CLEC4G	0	.	GRCh38	chr19	7729924	7729924	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	accacggccacgcgtgttccGagtgaggaagccctagaaag	11	5	13	12	4	0	2	0	1	0	1	1	4	1	3	4	2	1	1	4	2	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.640C>G	p.Arg214Gly	p.R214G	ENST00000328853	8/9	209	177	32	210	210	0	strelka-varscan-mutect	CLEC4G,missense_variant,p.Arg214Gly,ENST00000328853,NM_198492.3,NM_001244856.1;CLEC4G,downstream_gene_variant,,ENST00000599020,;CLEC4G,downstream_gene_variant,,ENST00000598081,;	C	ENST00000328853	Transcript	missense_variant	709/1360	640/882	214/293	R/G	Cgg/Ggg		1		-1	CLEC4G	HGNC	HGNC:24591	protein_coding	YES	CCDS12185.1	ENSP00000327599	Q6UXB4	Q08G24	UPI000004C65D	NM_198492.3,NM_001244856.1	tolerated(0.05)		8/9		PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF245,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		rs1346519848	.												C	3	2	46	7729924	7729924	G	C	1	0	0	0	0	1	0	0	0	3285	1057	37	4		4	CLEC4G	19	7729924	Missense_Mutation	SNP	G	C3N-00294_TP	86715	7729924	50887692	1125	14627											
CLEC4G	0	.	GRCh38	chr19	7730164	7730164	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acgtggggcacggctcgcagGagtctgcggggtggcgaggg	5	5	22	9	5	1	0	0	0	1	0	2	2	1	1	0	8	1	3	0	8	0	0	rs755178489		C3N-00294_TP	C3N-00294_NB	G	G																c.482C>G	p.Ser161Cys	p.S161C	ENST00000328853	7/9	116	94	22	120	120	0	strelka-varscan-mutect	CLEC4G,missense_variant,p.Ser161Cys,ENST00000328853,NM_198492.3,NM_001244856.1;CLEC4G,downstream_gene_variant,,ENST00000599020,;CLEC4G,downstream_gene_variant,,ENST00000598081,;	C	ENST00000328853	Transcript	missense_variant	551/1360	482/882	161/293	S/C	tCc/tGc	rs755178489,COSM4496790	1		-1	CLEC4G	HGNC	HGNC:24591	protein_coding	YES	CCDS12185.1	ENSP00000327599	Q6UXB4	Q08G24	UPI000004C65D	NM_198492.3,NM_001244856.1	deleterious(0)		7/9		hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF245,Gene3D:3.10.100.10,Superfamily_domains:SSF56436											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs755178489	.												C	3	2	46	7730164	7730164	G	C	1	0	0	0	0	1	0	0	0	3285	1188	41	4		4	CLEC4G	19	7730164	Missense_Mutation	SNP	G	C3N-00294_TP	240	7730164	50887452	1126	14628											
CLEC4M	0	.	GRCh38	chr19	7766799	7766799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtcgtaatcaaaactgctGaggagcaggtacacgtggtg	11	9	13	8	3	1	1	1	1	0	0	3	2	1	2	0	3	4	4	0	3	4	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.928G>A	p.Glu310Lys	p.E310K	ENST00000327325	5/7	169	135	34	145	145	0	strelka-varscan-mutect	CLEC4M,missense_variant,p.Glu310Lys,ENST00000327325,NM_001144909.1,NM_001144905.1,NM_001144910.1,NM_014257.4;CLEC4M,missense_variant,p.Glu298Lys,ENST00000394122,;CLEC4M,missense_variant,p.Glu287Lys,ENST00000248228,;CLEC4M,missense_variant,p.Glu259Lys,ENST00000334806,NM_001144904.1;CLEC4M,missense_variant,p.Glu243Lys,ENST00000359059,NM_001144907.1;CLEC4M,missense_variant,p.Glu282Lys,ENST00000596363,NM_001144911.1;CLEC4M,missense_variant,p.Glu243Lys,ENST00000596707,;CLEC4M,missense_variant,p.Glu282Lys,ENST00000595751,;CLEC4M,missense_variant,p.Glu218Lys,ENST00000597522,NM_001144908.1;CLEC4M,missense_variant,p.Glu174Lys,ENST00000595496,NM_001144906.1;CLEC4M,non_coding_transcript_exon_variant,,ENST00000601089,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000598879,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000599333,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000602143,;	A	ENST00000327325	Transcript	missense_variant	1046/1935	928/1200	310/399	E/K	Gag/Aag		1		1	CLEC4M	HGNC	HGNC:13523	protein_coding	YES	CCDS12187.1	ENSP00000316228	Q9H2X3		UPI0000073C48	NM_001144909.1,NM_001144905.1,NM_001144910.1,NM_014257.4	deleterious(0)		5/7		PROSITE_profiles:PS50041,hmmpanther:PTHR22802:SF244,hmmpanther:PTHR22802,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	7766799	7766799	G	A	1	0	0	0	0	1	0	0	0	3286	1291	45	3		3	CLEC4M	19	7766799	Missense_Mutation	SNP	G	C3N-00294_TP	36635	7766799	50850817	1127	14629											
MUC16	0	.	GRCh38	chr19	8951368	8951368	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatgtctggtgatatggTgaactgatcaggccctgaca	11	10	13	7	0	2	5	1	4	1	1	2	6	2	5	1	3	1	0	1	3	2	1	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.25402A>C	p.Thr8468Pro	p.T8468P	ENST00000397910	3/84	308	208	100	286	286	0	strelka-varscan-mutect	MUC16,missense_variant,p.Thr8468Pro,ENST00000397910,NM_024690.2;	G	ENST00000397910	Transcript	missense_variant	25606/43816	25402/43524	8468/14507	T/P	Acc/Ccc		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	46	8951368	8951368	T	G	1	0	0	0	0	1	0	0	0	9972	1696	59	5		5	MUC16	19	8951368	Missense_Mutation	SNP	T	C3N-00294_TP	1184569	8951368	49666248	1128	14630											
MUC16	0	.	GRCh38	chr19	8965298	8965298	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgggcacctgccctggAtgtgcagaagtggtggtggg	6	9	18	8	0	1	1	0	0	1	1	1	3	1	2	2	5	2	2	2	5	1	0	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.11472T>A	p.His3824Gln	p.H3824Q	ENST00000397910	3/84	75	32	43	68	68	0	strelka-varscan-mutect	MUC16,missense_variant,p.His3824Gln,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	11676/43816	11472/43524	3824/14507	H/Q	caT/caA		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	8965298	8965298	A	T	1	0	0	0	0	1	0	0	0	9972	330	12	4		4	MUC16	19	8965298	Missense_Mutation	SNP	A	C3N-00294_TP	13930	8965298	49652318	1129	14631											
MUC16	0	.	GRCh38	chr19	8972219	8972219	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtggggactctgggttCatgccctgccatagaagggg	8	9	16	8	0	2	2	1	1	1	1	2	3	2	3	2	5	2	1	2	5	3	2			C3N-00294_TP	C3N-00294_NB	C	C																c.8920G>T	p.Glu2974Ter	p.E2974*	ENST00000397910	1/84	206	165	41	167	167	0	strelka-varscan-mutect	MUC16,stop_gained,p.Glu2974Ter,ENST00000397910,NM_024690.2;	A	ENST00000397910	Transcript	stop_gained	9124/43816	8920/43524	2974/14507	E/*	Gaa/Taa	COSM5588339,COSM5588340	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84													1,1						HIGH	1	SNV	5		1,1	1										PASS		.	.												A	4	1	46	8972219	8972219	C	A	1	0	0	0	0	0	1	0	0	9972	835	29	2		2	MUC16	19	8972219	Nonsense_Mutation	SNP	C	C3N-00294_TP	6921	8972219	49645397	1130	14632											
OR1M1	0	.	GRCh38	chr19	9093583	9093583	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcatcgtggacagcgtCataatcgccatgatggctta	9	12	11	9	3	1	1	1	1	0	0	3	2	1	2	1	3	1	2	1	3	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.339C>A	p.=	p.V113V	ENST00000429566	1/1	339	289	50	300	300	0	strelka-varscan-mutect	OR1M1,synonymous_variant,p.=,ENST00000429566,NM_001004456.1;	A	ENST00000429566	Transcript	synonymous_variant	405/1035	339/942	113/313	V	gtC/gtA		1		1	OR1M1	HGNC	HGNC:8220	protein_coding	YES	CCDS32896.1	ENSP00000401966	Q8NGA1		UPI0000041C29	NM_001004456.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF295,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs1299971830	.												A	2	1	46	9093583	9093583	C	A	1	0	0	0	0	0	0	0	1	11046	813	29	2		2	OR1M1	19	9093583	Silent	SNP	C	C3N-00294_TP	121364	9093583	49524033	1131	14633											
OR1M1	0	.	GRCh38	chr19	9093835	9093835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacacctctgtgaataggatCttcatcctcattgtggcagg	9	12	10	10	0	4	1	2	1	2	0	5	3	5	2	2	3	0	1	2	3	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.591C>T	p.=	p.I197I	ENST00000429566	1/1	450	373	77	388	388	0	strelka-varscan-mutect	OR1M1,synonymous_variant,p.=,ENST00000429566,NM_001004456.1;	T	ENST00000429566	Transcript	synonymous_variant	657/1035	591/942	197/313	I	atC/atT		1		1	OR1M1	HGNC	HGNC:8220	protein_coding	YES	CCDS32896.1	ENSP00000401966	Q8NGA1		UPI0000041C29	NM_001004456.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF295,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	46	9093835	9093835	C	T	1	0	0	0	0	0	0	0	1	11046	903	32	3		3	OR1M1	19	9093835	Silent	SNP	C	C3N-00294_TP	252	9093835	49523781	1132	14634											
COL5A3	0	.	GRCh38	chr19	9960865	9960865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctgcacgacattcactgggGacccgtcggcgtccacgtag	7	7	13	14	5	1	0	1	0	0	0	3	2	2	1	2	3	1	3	2	3	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4877C>G	p.Ser1626Cys	p.S1626C	ENST00000264828	66/67	195	151	44	260	260	0	strelka-varscan-mutect	COL5A3,missense_variant,p.Ser1626Cys,ENST00000264828,NM_015719.3;	C	ENST00000264828	Transcript	missense_variant	4963/6174	4877/5238	1626/1745	S/C	tCc/tGc		1		-1	COL5A3	HGNC	HGNC:14864	protein_coding	YES	CCDS12222.1	ENSP00000264828	P25940		UPI00002032A3	NM_015719.3	deleterious(0.01)		66/67		PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF516,Pfam_domain:PF01410,SMART_domains:SM00038																	MODERATE	1	SNV	1			1										PASS		rs1396865274	.												C	3	2	46	9960865	9960865	G	C	1	0	0	0	0	1	0	0	0	3487	1174	41	4		4	COL5A3	19	9960865	Missense_Mutation	SNP	G	C3N-00294_TP	867030	9960865	48656751	1133	14635											
COL5A3	0	.	GRCh38	chr19	9996478	9996478	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgggcctgctggaatgaGactggggggcctttaaagga	8	8	17	8	0	0	1	0	1	0	1	0	4	0	3	3	6	1	1	3	6	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1377C>G	p.=	p.V459V	ENST00000264828	13/67	196	150	46	186	186	0	strelka-varscan-mutect	COL5A3,synonymous_variant,p.=,ENST00000264828,NM_015719.3;CTD-2553C6.1,non_coding_transcript_exon_variant,,ENST00000592332,;	C	ENST00000264828	Transcript	synonymous_variant	1463/6174	1377/5238	459/1745	V	gtC/gtG		1		-1	COL5A3	HGNC	HGNC:14864	protein_coding	YES	CCDS12222.1	ENSP00000264828	P25940		UPI00002032A3	NM_015719.3			13/67																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	46	9996478	9996478	G	C	1	0	0	0	0	0	0	0	1	3487	929	33	4		4	COL5A3	19	9996478	Silent	SNP	G	C3N-00294_TP	35613	9996478	48621138	1134	14636											
KRI1	0	.	GRCh38	chr19	10559908	10559908	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtctgaggagtcgtccaCagccagctggactgggggac	7	8	15	11	2	1	1	0	1	1	0	4	4	2	4	2	4	2	1	2	4	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.847G>C	p.Val283Leu	p.V283L	ENST00000312962	10/19	164	127	37	169	169	0	strelka-varscan-mutect	KRI1,missense_variant,p.Val283Leu,ENST00000312962,NM_023008.3;KRI1,missense_variant,p.Val165Leu,ENST00000432197,;KRI1,intron_variant,,ENST00000539027,;KRI1,downstream_gene_variant,,ENST00000543682,;KRI1,non_coding_transcript_exon_variant,,ENST00000618579,;KRI1,downstream_gene_variant,,ENST00000537964,;KRI1,non_coding_transcript_exon_variant,,ENST00000536689,;KRI1,non_coding_transcript_exon_variant,,ENST00000612875,;KRI1,non_coding_transcript_exon_variant,,ENST00000478863,;KRI1,non_coding_transcript_exon_variant,,ENST00000537363,;KRI1,upstream_gene_variant,,ENST00000536714,;KRI1,downstream_gene_variant,,ENST00000546063,;KRI1,upstream_gene_variant,,ENST00000537433,;KRI1,upstream_gene_variant,,ENST00000543842,;KRI1,downstream_gene_variant,,ENST00000544397,;	G	ENST00000312962	Transcript	missense_variant	867/3023	847/2130	283/709	V/L	Gtg/Ctg		1		-1	KRI1	HGNC	HGNC:25769	protein_coding	YES	CCDS12242.1	ENSP00000320917	Q8N9T8		UPI0000246DCC	NM_023008.3	tolerated(0.12)		10/19		hmmpanther:PTHR14490																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	46	10559908	10559908	C	G	1	0	0	0	0	1	0	0	0	8326	478	17	4		4	KRI1	19	10559908	Missense_Mutation	SNP	C	C3N-00294_TP	563430	10559908	48057708	1135	14637											
ILF3	0	.	GRCh38	chr19	10683942	10683942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtatggaagctatgggtaCggaggcaactcggcgacagc	10	6	17	8	3	0	0	0	0	0	0	1	3	0	2	0	6	4	4	0	6	5	3			C3N-00294_TP	C3N-00294_NB	C	C																c.2043C>T	p.=	p.Y681Y	ENST00000449870	17/20	99	74	25	96	96	0	strelka-varscan-mutect	ILF3,synonymous_variant,p.=,ENST00000449870,NM_017620.2;ILF3,synonymous_variant,p.=,ENST00000592763,;ILF3,synonymous_variant,p.=,ENST00000407004,NM_001137673.1;ILF3,synonymous_variant,p.=,ENST00000590261,NM_012218.3;ILF3,synonymous_variant,p.=,ENST00000250241,NM_153464.2;ILF3,synonymous_variant,p.=,ENST00000588657,;ILF3,synonymous_variant,p.=,ENST00000589998,NM_004516.3;ILF3,synonymous_variant,p.=,ENST00000590869,;ILF3,synonymous_variant,p.=,ENST00000593061,;ILF3,downstream_gene_variant,,ENST00000590009,;ILF3,upstream_gene_variant,,ENST00000586544,;ILF3,non_coding_transcript_exon_variant,,ENST00000587928,;ILF3,upstream_gene_variant,,ENST00000591649,;ILF3,downstream_gene_variant,,ENST00000585835,;ILF3,downstream_gene_variant,,ENST00000587505,;ILF3,downstream_gene_variant,,ENST00000589416,;ILF3,downstream_gene_variant,,ENST00000587840,;ILF3,downstream_gene_variant,,ENST00000589052,;ILF3,downstream_gene_variant,,ENST00000589485,;ILF3,downstream_gene_variant,,ENST00000589173,;	T	ENST00000449870	Transcript	synonymous_variant	2360/6119	2043/2697	681/898	Y	taC/taT	COSM1589644,COSM990669	1		1	ILF3	HGNC	HGNC:6038	protein_coding	YES	CCDS45965.1	ENSP00000404121	Q12906		UPI000059D66A	NM_017620.2			17/20		Low_complexity_(Seg):seg											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1234258543	.												T	2	4	46	10683942	10683942	C	T	1	0	0	0	0	0	0	0	1	7615	547	19	1		1	ILF3	19	10683942	Silent	SNP	C	C3N-00294_TP	124034	10683942	47933674	1136	14638											
C19orf38	0	.	GRCh38	chr19	10859922	10859922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcctttgcagagatcgaGaatcctgctgggcccagatt	10	11	10	10	1	0	3	0	0	0	3	3	5	2	3	3	1	2	2	3	1	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.469G>A	p.Glu157Lys	p.E157K	ENST00000397820	5/7	143	114	29	148	148	0	strelka-varscan-mutect	C19orf38,missense_variant,p.Glu157Lys,ENST00000397820,NM_001136482.1;C19orf38,missense_variant,p.Glu157Lys,ENST00000592854,;C19orf38,non_coding_transcript_exon_variant,,ENST00000587494,;	A	ENST00000397820	Transcript	missense_variant	576/1223	469/693	157/230	E/K	Gaa/Aaa		1		1	C19orf38	HGNC	HGNC:34073	protein_coding	YES	CCDS45970.1	ENSP00000380920	A8MVS5		UPI0000160991	NM_001136482.1	deleterious(0.01)		5/7		hmmpanther:PTHR36859																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	10859922	10859922	G	A	1	0	0	0	0	1	0	0	0	1909	943	33	3		3	C19orf38	19	10859922	Missense_Mutation	SNP	G	C3N-00294_TP	175980	10859922	47757694	1137	14639											
SPC24	0	.	GRCh38	chr19	11155694	11155694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtggcgccccagcagccgtCgctgctgcgcctccgcgcgg	2	5	15	19	8	0	0	0	0	0	0	2	0	1	0	5	2	4	3	5	2	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.83G>A	p.Arg28Gln	p.R28Q	ENST00000592540	1/5	156	124	32	156	156	0	strelka-varscan-mutect	SPC24,missense_variant,p.Arg28Gln,ENST00000592540,NM_182513.2;SPC24,missense_variant,p.Arg25Gln,ENST00000592967,;SPC24,missense_variant,p.Arg24Gln,ENST00000591396,;SPC24,missense_variant,p.Arg26Gln,ENST00000585486,NM_001317032.1;SPC24,missense_variant,p.Arg28Gln,ENST00000585567,;SPC24,missense_variant,p.Arg23Gln,ENST00000586708,;SPC24,missense_variant,p.Arg28Gln,ENST00000423327,;	T	ENST00000592540	Transcript	missense_variant	115/2315	83/594	28/197	R/Q	cGa/cAa		1		-1	SPC24	HGNC	HGNC:26913	protein_coding	YES	CCDS45974.1	ENSP00000465075	Q8NBT2		UPI000007312F	NM_182513.2	deleterious(0.02)		1/5		hmmpanther:PTHR22142:SF2,hmmpanther:PTHR22142																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	11155694	11155694	C	T	1	0	0	0	0	1	0	0	0	15367	884	31	1		1	SPC24	19	11155694	Missense_Mutation	SNP	C	C3N-00294_TP	295772	11155694	47461922	1138	14640											
ECSIT	0	.	GRCh38	chr19	11514152	11514152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccggggttccggtgggctggGaaccagggactgttcagagc	6	7	18	10	2	1	1	1	0	0	1	2	3	2	3	3	6	2	3	3	6	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.166C>T	p.Pro56Ser	p.P56S	ENST00000270517	3/8	82	62	20	108	108	0	strelka-varscan-mutect	ECSIT,missense_variant,p.Pro56Ser,ENST00000270517,NM_016581.4;ECSIT,missense_variant,p.Pro56Ser,ENST00000252440,NM_001142464.2;ECSIT,missense_variant,p.Pro56Ser,ENST00000591104,NM_001243204.1;ECSIT,missense_variant,p.Pro56Ser,ENST00000590480,;ECSIT,5_prime_UTR_variant,,ENST00000592312,;ECSIT,5_prime_UTR_variant,,ENST00000585318,;ECSIT,5_prime_UTR_variant,,ENST00000592665,;ECSIT,intron_variant,,ENST00000417981,NM_001142465.2;ECSIT,intron_variant,,ENST00000588998,;ECSIT,downstream_gene_variant,,ENST00000586149,;RN7SL833P,downstream_gene_variant,,ENST00000498758,;ECSIT,upstream_gene_variant,,ENST00000591352,;ECSIT,upstream_gene_variant,,ENST00000592571,;ECSIT,upstream_gene_variant,,ENST00000593231,;	A	ENST00000270517	Transcript	missense_variant	302/1700	166/1296	56/431	P/S	Ccc/Tcc		1		-1	ECSIT	HGNC	HGNC:29548	protein_coding	YES	CCDS12262.1	ENSP00000270517	Q9BQ95		UPI0000072F31	NM_016581.4	tolerated(0.14)		3/8		hmmpanther:PTHR13113,Pfam_domain:PF06239																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	11514152	11514152	G	A	1	0	0	0	0	1	0	0	0	4728	1174	41	3		3	ECSIT	19	11514152	Missense_Mutation	SNP	G	C3N-00294_TP	358458	11514152	47103464	1139	14641											
ZNF443	0	.	GRCh38	chr19	12431883	12431883	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaggacctactccaggaaGagtgttcttggtcacaatac	13	9	9	10	0	2	1	1	0	1	1	3	3	3	3	2	3	2	1	2	3	5	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.289C>G	p.Leu97Val	p.L97V	ENST00000301547	4/4	92	78	14	122	122	0	strelka-varscan-mutect	ZNF443,missense_variant,p.Leu97Val,ENST00000301547,NM_005815.4;CTD-3105H18.16,intron_variant,,ENST00000595562,;ZNF443,3_prime_UTR_variant,,ENST00000436821,;CTD-3105H18.18,downstream_gene_variant,,ENST00000598753,;	C	ENST00000301547	Transcript	missense_variant	487/2663	289/2016	97/671	L/V	Ctt/Gtt		1		-1	ZNF443	HGNC	HGNC:20878	protein_coding	YES	CCDS32918.1	ENSP00000301547	Q9Y2A4		UPI000020344A	NM_005815.4	tolerated(0.5)		4/4		hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF16																	MODERATE	1	SNV	1			1										PASS		rs1191248159	.												C	3	2	46	12431883	12431883	G	C	1	0	0	0	0	1	0	0	0	18487	942	33	4		4	ZNF443	19	12431883	Missense_Mutation	SNP	G	C3N-00294_TP	917731	12431883	46185733	1140	14642											
IL27RA	0	.	GRCh38	chr19	14049073	14049073	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccgtctgggggttcaggGaggaattaggtaagagtggg	8	9	18	6	1	2	1	1	0	1	1	3	3	3	3	2	6	0	2	2	6	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1234G>T	p.Glu412Ter	p.E412*	ENST00000263379	9/14	126	92	34	133	133	0	strelka-varscan-mutect	IL27RA,stop_gained,p.Glu412Ter,ENST00000263379,NM_004843.3;PALM3,downstream_gene_variant,,ENST00000340790,NM_001145028.1;	T	ENST00000263379	Transcript	stop_gained	1359/2962	1234/1911	412/636	E/*	Gag/Tag		1		1	IL27RA	HGNC	HGNC:17290	protein_coding	YES	CCDS12303.1	ENSP00000263379	Q6UWB1		UPI0000039E1F	NM_004843.3			9/14		PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF6,Superfamily_domains:SSF49265																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	46	14049073	14049073	G	T	1	0	0	0	0	0	1	0	0	7584	1175	41	2		2	IL27RA	19	14049073	Nonsense_Mutation	SNP	G	C3N-00294_TP	1617190	14049073	44568543	1141	14643											
PALM3	0	.	GRCh38	chr19	14053871	14053871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcttcactccttcctcctCcagggctcctactggcttct	3	13	8	17	0	2	0	1	0	1	0	7	0	7	0	5	3	1	3	5	3	1	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1756G>A	p.Glu586Lys	p.E586K	ENST00000340790	6/6	175	155	20	154	154	0	strelka-mutect	PALM3,missense_variant,p.Glu586Lys,ENST00000340790,NM_001145028.1;IL27RA,downstream_gene_variant,,ENST00000263379,NM_004843.3;PALM3,downstream_gene_variant,,ENST00000589048,;PALM3,downstream_gene_variant,,ENST00000586368,;	T	ENST00000340790	Transcript	missense_variant	1756/2262	1756/2022	586/673	E/K	Gag/Aag		1		-1	PALM3	HGNC	HGNC:33274	protein_coding	YES	CCDS46001.1	ENSP00000344996	A6NDB9		UPI0001662AC1	NM_001145028.1	tolerated(0.09)		6/6		hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF13																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	46	14053871	14053871	C	T	1	0	0	0	0	1	0	0	0	11490	864	30	3		3	PALM3	19	14053871	Missense_Mutation	SNP	C	C3N-00294_TP	4798	14053871	44563745	1142	14644											
NOTCH3	0	.	GRCh38	chr19	15174259	15174259	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggcggcagcagcactgtGagcaccagcacgccgcgggc	7	4	15	15	4	1	1	0	1	1	0	1	1	1	1	2	3	4	5	2	3	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.4545C>T	p.=	p.L1515L	ENST00000263388	25/33	247	206	41	212	212	0	strelka-varscan-mutect	NOTCH3,synonymous_variant,p.=,ENST00000263388,NM_000435.2;NOTCH3,downstream_gene_variant,,ENST00000601011,;NOTCH3,downstream_gene_variant,,ENST00000600841,;NOTCH3,upstream_gene_variant,,ENST00000595514,;NOTCH3,downstream_gene_variant,,ENST00000595045,;	A	ENST00000263388	Transcript	synonymous_variant	4621/8666	4545/6966	1515/2321	L	ctC/ctT		1		-1	NOTCH3	HGNC	HGNC:7883	protein_coding	YES	CCDS12326.1	ENSP00000263388	Q9UM47		UPI000013D3FA	NM_000435.2			25/33		Pfam_domain:PF06816,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF57,Low_complexity_(Seg):seg,SMART_domains:SM01338																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	15174259	15174259	G	A	1	0	0	0	0	0	0	0	1	10595	1277	45	3		3	NOTCH3	19	15174259	Silent	SNP	G	C3N-00294_TP	1120388	15174259	43443357	1143	14645											
BRD4	0	.	GRCh38	chr19	15239100	15239100	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctccttctccttctcagcGtgctcggcctgagccttcag	3	12	9	17	3	3	1	2	1	2	0	7	1	4	1	4	1	3	2	4	1	0	3	rs367944319		C3N-00294_TP	C3N-00294_NB	G	G																c.3741C>T	p.=	p.H1247H	ENST00000263377	18/20	93	66	27	114	114	0	strelka-varscan-mutect	BRD4,synonymous_variant,p.=,ENST00000263377,NM_058243.2;	A	ENST00000263377	Transcript	synonymous_variant	3963/7169	3741/4089	1247/1362	H	caC/caT	rs367944319	1		-1	BRD4	HGNC	HGNC:13575	protein_coding	YES	CCDS12328.1	ENSP00000263377	O60885		UPI0000126ACE	NM_058243.2			18/20		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs367944319	.												A	2	1	46	15239100	15239100	G	A	1	0	0	0	0	0	0	0	1	1674	1136	40	1		1	BRD4	19	15239100	Silent	SNP	G	C3N-00294_TP	64841	15239100	43378516	1144	14646											
CYP4F12	0	.	GRCh38	chr19	15697032	15697032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaattgatcatgcgcGccgagggcgggctttggctg	6	9	17	9	4	1	1	1	1	0	0	1	3	1	2	1	4	2	3	1	4	1	2	rs189002430		C3N-00294_TP	C3N-00294_NB	G	G																c.1522G>A	p.Ala508Thr	p.A508T	ENST00000550308	13/13	175	133	42	190	189	1	strelka-varscan-mutect	CYP4F12,missense_variant,p.Ala508Thr,ENST00000550308,NM_023944.3;CYP4F12,missense_variant,p.Ala508Thr,ENST00000324632,;CYP4F12,3_prime_UTR_variant,,ENST00000517734,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000546608,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000550627,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000518629,;	A	ENST00000550308	Transcript	missense_variant	1902/2044	1522/1575	508/524	A/T	Gcc/Acc	rs189002430,COSM181661	1		1	CYP4F12	HGNC	HGNC:18857	protein_coding	YES	CCDS42517.1	ENSP00000448998		A0A0A0MR49	UPI00020B9EFD	NM_023944.3	tolerated(0.18)		13/13		hmmpanther:PTHR24291:SF27,hmmpanther:PTHR24291,Gene3D:1.10.630.10,Superfamily_domains:SSF48264											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs189002430	.												A	3	1	46	15697032	15697032	G	A	1	0	0	0	0	1	0	0	0	3990	1087	38	1		1	CYP4F12	19	15697032	Missense_Mutation	SNP	G	C3N-00294_TP	457932	15697032	42920584	1145	14647											
CYP4F11	0	.	GRCh38	chr19	15914779	15914779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctttggggatgacgcggCcgtctgggagcacaaagtcc	8	7	14	12	3	1	1	0	1	1	0	2	3	2	3	3	4	1	1	3	4	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1232G>C	p.Gly411Ala	p.G411A	ENST00000402119	9/12	157	124	33	132	132	0	strelka-varscan-mutect	CYP4F11,missense_variant,p.Gly411Ala,ENST00000402119,NM_021187.3;CYP4F11,missense_variant,p.Gly411Ala,ENST00000248041,NM_001128932.1;CYP4F11,missense_variant,p.Gly411Ala,ENST00000620614,;CYP4F11,missense_variant,p.Gly411Ala,ENST00000326742,;CYP4F11,missense_variant,p.Gly86Ala,ENST00000591841,;AC005336.4,upstream_gene_variant,,ENST00000585431,;	G	ENST00000402119	Transcript	missense_variant	1659/3161	1232/1575	411/524	G/A	gGc/gCc		1		-1	CYP4F11	HGNC	HGNC:13265	protein_coding	YES	CCDS12337.1	ENSP00000384588	Q9HBI6		UPI000013CC35	NM_021187.3	deleterious(0)		9/12		hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF16,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	15914779	15914779	C	G	1	0	0	0	0	1	0	0	0	3989	739	26	4		4	CYP4F11	19	15914779	Missense_Mutation	SNP	C	C3N-00294_TP	217747	15914779	42702837	1146	14648											
MYO9B	0	.	GRCh38	chr19	17185996	17185996	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcatccgttccaatgctGaaaaggtgagtttctctaag	10	12	10	9	1	1	2	0	2	1	0	4	2	3	2	2	1	2	5	2	1	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2572G>C	p.Glu858Gln	p.E858Q	ENST00000595618	18/40	184	137	47	216	216	0	strelka-varscan-mutect	MYO9B,missense_variant,p.Glu858Gln,ENST00000595618,NM_001130065.1;MYO9B,missense_variant,p.Glu858Gln,ENST00000594824,NM_004145.3;MYO9B,missense_variant,p.Glu858Gln,ENST00000397274,;MYO9B,missense_variant,p.Glu858Gln,ENST00000595641,;MYO9B,missense_variant,p.Glu150Gln,ENST00000602177,;MYO9B,downstream_gene_variant,,ENST00000594971,;MYO9B,non_coding_transcript_exon_variant,,ENST00000601749,;MYO9B,non_coding_transcript_exon_variant,,ENST00000601490,;MYO9B,downstream_gene_variant,,ENST00000598101,;MYO9B,downstream_gene_variant,,ENST00000598464,;	C	ENST00000595618	Transcript	missense_variant	2724/7623	2572/6069	858/2022	E/Q	Gaa/Caa		1		1	MYO9B	HGNC	HGNC:7609	protein_coding	YES	CCDS46010.1	ENSP00000471457	Q13459		UPI000020367C	NM_001130065.1	tolerated(0.13)		18/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1232569221	.												C	3	2	46	17185996	17185996	G	C	1	0	0	0	0	1	0	0	0	10086	1304	45	4		4	MYO9B	19	17185996	Missense_Mutation	SNP	G	C3N-00294_TP	1271217	17185996	41431620	1147	14649											
MYO9B	0	.	GRCh38	chr19	17202202	17202202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtcagcaacctggccactGagcgtggccagaaggacacc	10	5	12	14	2	1	2	1	1	0	1	2	3	1	3	4	3	3	1	4	3	2	0			C3N-00294_TP	C3N-00294_NB	G	G																c.4735G>A	p.Glu1579Lys	p.E1579K	ENST00000595618	28/40	188	157	31	215	215	0	strelka-varscan-mutect	MYO9B,missense_variant,p.Glu1579Lys,ENST00000595618,NM_001130065.1;MYO9B,missense_variant,p.Glu1579Lys,ENST00000594824,NM_004145.3;MYO9B,missense_variant,p.Glu1579Lys,ENST00000397274,;MYO9B,missense_variant,p.Glu1579Lys,ENST00000595641,;MYO9B,upstream_gene_variant,,ENST00000597073,;MYO9B,upstream_gene_variant,,ENST00000596942,;CTD-3032J10.3,downstream_gene_variant,,ENST00000601929,;MYO9B,non_coding_transcript_exon_variant,,ENST00000593533,;MYO9B,non_coding_transcript_exon_variant,,ENST00000599420,;MYO9B,upstream_gene_variant,,ENST00000602158,;	A	ENST00000595618	Transcript	missense_variant	4887/7623	4735/6069	1579/2022	E/K	Gag/Aag	COSM3285573,COSM3285574	1		1	MYO9B	HGNC	HGNC:7609	protein_coding	YES	CCDS46010.1	ENSP00000471457	Q13459		UPI000020367C	NM_001130065.1	tolerated(0.2)		28/40													1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1223943947	.												A	3	1	46	17202202	17202202	G	A	1	0	0	0	0	1	0	0	0	10086	1291	45	3		3	MYO9B	19	17202202	Missense_Mutation	SNP	G	C3N-00294_TP	16206	17202202	41415414	1148	14650											
USHBP1	0	.	GRCh38	chr19	17260019	17260019	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggaatcctgcagctcttGaacctgggaaagatgagggg	11	7	16	7	0	1	3	0	2	1	1	2	6	2	5	2	4	3	2	2	4	3	1	rs200391216		C3N-00294_TP	C3N-00294_NB	G	G																c.646C>G	p.Gln216Glu	p.Q216E	ENST00000252597	5/13	87	64	23	81	81	0	strelka-varscan-mutect	USHBP1,missense_variant,p.Gln216Glu,ENST00000252597,NM_031941.3;USHBP1,missense_variant,p.Gln152Glu,ENST00000431146,NM_001297703.1;USHBP1,downstream_gene_variant,,ENST00000594190,;USHBP1,downstream_gene_variant,,ENST00000598309,;AC010646.3,upstream_gene_variant,,ENST00000594059,;USHBP1,downstream_gene_variant,,ENST00000598570,;USHBP1,downstream_gene_variant,,ENST00000595993,;USHBP1,missense_variant,p.Gln216Glu,ENST00000324554,;USHBP1,3_prime_UTR_variant,,ENST00000597928,;USHBP1,downstream_gene_variant,,ENST00000600286,;USHBP1,downstream_gene_variant,,ENST00000596436,;	C	ENST00000252597	Transcript	missense_variant	820/3335	646/2112	216/703	Q/E	Caa/Gaa	rs200391216	1		-1	USHBP1	HGNC	HGNC:24058	protein_coding	YES	CCDS12353.1	ENSP00000252597	Q8N6Y0	A0A024R7H3	UPI000006F7A8	NM_031941.3	deleterious(0.03)		5/13		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23347:SF5,hmmpanther:PTHR23347																	MODERATE	1	SNV	1			1										PASS		rs200391216	.												C	3	2	46	17260019	17260019	G	C	1	0	0	0	0	1	0	0	0	17571	1304	45	4		4	USHBP1	19	17260019	Missense_Mutation	SNP	G	C3N-00294_TP	57817	17260019	41357597	1149	14651											
PGLS	0	.	GRCh38	chr19	17511710	17511710	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggcctcatctcggtgttctCgagttcccaggagctgggtg	4	11	15	11	2	3	0	1	0	2	0	6	2	4	1	2	4	1	3	2	4	0	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.38C>G	p.Ser13Trp	p.S13W	ENST00000252603	1/5	134	114	20	116	116	0	strelka-varscan-mutect	PGLS,missense_variant,p.Ser13Trp,ENST00000252603,NM_012088.2;PGLS,missense_variant,p.Ser13Trp,ENST00000600923,;PGLS,upstream_gene_variant,,ENST00000595782,;CTD-3131K8.2,non_coding_transcript_exon_variant,,ENST00000596643,;CTD-3131K8.2,upstream_gene_variant,,ENST00000615939,;CTD-3131K8.2,upstream_gene_variant,,ENST00000595116,;PGLS,missense_variant,p.Ser13Trp,ENST00000594761,;PGLS,non_coding_transcript_exon_variant,,ENST00000596799,;PGLS,upstream_gene_variant,,ENST00000598811,;	G	ENST00000252603	Transcript	missense_variant	82/1028	38/777	13/258	S/W	tCg/tGg		1		1	PGLS	HGNC	HGNC:8903	protein_coding	YES	CCDS12361.1	ENSP00000252603	O95336	A0A0K0K1K7	UPI0000124F8A	NM_012088.2	deleterious(0)		1/5		Gene3D:3.40.50.1360,hmmpanther:PTHR11054,hmmpanther:PTHR11054:SF6,Superfamily_domains:SSF100950,TIGRFAM_domain:TIGR01198																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	17511710	17511710	C	G	1	0	0	0	0	1	0	0	0	11881	893	31	4		4	PGLS	19	17511710	Missense_Mutation	SNP	C	C3N-00294_TP	251691	17511710	41105906	1150	14652											
MAP1S	0	.	GRCh38	chr19	17726492	17726492	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcagctgggcatcacgcctCtgccactcagccgcggcccc	5	5	11	20	4	3	0	2	0	1	0	3	0	3	0	5	2	3	3	5	2	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1108C>G	p.Leu370Val	p.L370V	ENST00000324096	5/7	409	332	77	413	413	0	strelka-varscan-mutect	MAP1S,missense_variant,p.Leu370Val,ENST00000324096,NM_018174.4;MAP1S,missense_variant,p.Leu344Val,ENST00000544059,NM_001308363.1;MAP1S,intron_variant,,ENST00000597735,;MAP1S,downstream_gene_variant,,ENST00000600186,;MAP1S,downstream_gene_variant,,ENST00000594625,;MAP1S,upstream_gene_variant,,ENST00000597000,;CTD-3149D2.4,downstream_gene_variant,,ENST00000595363,;MAP1S,intron_variant,,ENST00000597681,;MAP1S,downstream_gene_variant,,ENST00000601544,;MAP1S,downstream_gene_variant,,ENST00000599494,;MAP1S,upstream_gene_variant,,ENST00000598756,;MAP1S,downstream_gene_variant,,ENST00000594340,;MAP1S,downstream_gene_variant,,ENST00000595338,;MAP1S,downstream_gene_variant,,ENST00000598916,;MAP1S,downstream_gene_variant,,ENST00000597067,;MAP1S,3_prime_UTR_variant,,ENST00000594212,;MAP1S,downstream_gene_variant,,ENST00000594365,;MAP1S,downstream_gene_variant,,ENST00000598769,;MAP1S,downstream_gene_variant,,ENST00000596637,;MAP1S,downstream_gene_variant,,ENST00000593593,;MAP1S,downstream_gene_variant,,ENST00000600608,;	G	ENST00000324096	Transcript	missense_variant	1259/3419	1108/3180	370/1059	L/V	Ctg/Gtg		1		1	MAP1S	HGNC	HGNC:15715	protein_coding	YES	CCDS32954.1	ENSP00000325313	Q66K74		UPI00002036F9	NM_018174.4	tolerated(0.82)		5/7		hmmpanther:PTHR13843																	MODERATE	1	SNV	1			1										PASS		rs1227489354	.												G	3	3	46	17726492	17726492	C	G	1	0	0	0	0	1	0	0	0	9156	912	32	4		4	MAP1S	19	17726492	Missense_Mutation	SNP	C	C3N-00294_TP	214782	17726492	40891124	1151	14653											
COPE	0	.	GRCh38	chr19	18913034	18913034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccctctccacgtctctctCtgggcttgatagctgtggga	4	13	11	13	1	3	1	0	1	3	0	7	2	4	2	2	2	1	2	2	2	1	2	rs11537885		C3N-00294_TP	C3N-00294_NB	C	C																c.139G>C	p.Glu47Gln	p.E47Q	ENST00000262812	2/10	151	127	24	166	166	0	strelka-varscan-mutect	COPE,missense_variant,p.Glu47Gln,ENST00000600932,;COPE,missense_variant,p.Glu47Gln,ENST00000262812,NM_007263.3;COPE,missense_variant,p.Glu47Gln,ENST00000349893,NM_199444.1;COPE,missense_variant,p.Glu47Gln,ENST00000351079,NM_199442.1;COPE,non_coding_transcript_exon_variant,,ENST00000598969,;COPE,non_coding_transcript_exon_variant,,ENST00000597646,;COPE,non_coding_transcript_exon_variant,,ENST00000599964,;COPE,missense_variant,p.Glu47Gln,ENST00000593827,;AC002985.3,3_prime_UTR_variant,,ENST00000596918,;AC002985.3,3_prime_UTR_variant,,ENST00000593484,;COPE,non_coding_transcript_exon_variant,,ENST00000597026,;	G	ENST00000262812	Transcript	missense_variant	188/1141	139/927	47/308	E/Q	Gag/Cag	rs11537885	1		-1	COPE	HGNC	HGNC:2234	protein_coding	YES	CCDS12387.1	ENSP00000262812	O14579		UPI000013D334	NM_007263.3	tolerated(0.11)		2/10		Pfam_domain:PF04733,PIRSF_domain:PIRSF016478,hmmpanther:PTHR10805																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	18913034	18913034	C	G	1	0	0	0	0	1	0	0	0	3522	922	32	4		4	COPE	19	18913034	Missense_Mutation	SNP	C	C3N-00294_TP	1186542	18913034	39704582	1152	14654											
CILP2	0	.	GRCh38	chr19	19538388	19538388	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctgtctctgtgtcgtCgctgcgcacctggcgggggc	1	11	15	14	4	2	0	0	0	2	0	5	0	2	0	1	3	2	3	1	3	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.39C>A	p.=	p.V13V	ENST00000291495	1/8	124	96	28	127	127	0	strelka-varscan-mutect	CILP2,synonymous_variant,p.=,ENST00000586018,;CILP2,synonymous_variant,p.=,ENST00000291495,NM_153221.2;CTC-260F20.3,downstream_gene_variant,,ENST00000555938,;YJEFN3,downstream_gene_variant,,ENST00000514277,NM_198537.3;YJEFN3,downstream_gene_variant,,ENST00000436027,NM_001190328.1;CTC-260F20.3,downstream_gene_variant,,ENST00000586674,;CILP2,upstream_gene_variant,,ENST00000588333,;YJEFN3,downstream_gene_variant,,ENST00000458210,;	A	ENST00000291495	Transcript	synonymous_variant	124/4199	39/3471	13/1156	V	gtC/gtA		1		1	CILP2	HGNC	HGNC:24213	protein_coding	YES	CCDS12405.1	ENSP00000291495	Q8IUL8		UPI000013E04D	NM_153221.2			1/8		hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF0,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	19538388	19538388	C	A	1	0	0	0	0	0	0	0	1	3192	871	31	1		1	CILP2	19	19538388	Silent	SNP	C	C3N-00294_TP	625354	19538388	39079228	1153	14655											
ZNF430	0	.	GRCh38	chr19	21057703	21057703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagaatgtggcaaagcCtttaaccggtccccaaaact	13	9	9	10	1	0	2	0	1	0	1	1	2	1	2	4	2	3	1	4	2	6	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1395C>T	p.=	p.A465A	ENST00000261560	5/5	139	132	7	209	209	0	varscan-mutect	ZNF430,synonymous_variant,p.=,ENST00000261560,NM_025189.3,NM_001172671.1;ZNF430,downstream_gene_variant,,ENST00000599548,;ZNF430,upstream_gene_variant,,ENST00000597922,;	T	ENST00000261560	Transcript	synonymous_variant	1576/3923	1395/1713	465/570	A	gcC/gcT		1		1	ZNF430	HGNC	HGNC:20808	protein_coding	YES	CCDS32978.1	ENSP00000261560	Q9H8G1		UPI000020389E	NM_025189.3,NM_001172671.1			5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF131,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		rs878948052	.												T	2	4	46	21057703	21057703	C	T	1	0	0	0	0	0	0	0	1	18476	668	24	3		3	ZNF430	19	21057703	Silent	SNP	C	C3N-00294_TP	1519315	21057703	37559913	1154	14656											
ZNF257	0	.	GRCh38	chr19	22088663	22088663	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctcttactacccttactCaacataagagaattcatact	14	12	3	12	0	3	1	2	0	1	1	3	2	3	1	1	0	6	1	1	0	7	6			C3N-00294_TP	C3N-00294_NB	C	C																c.913C>G	p.Gln305Glu	p.Q305E	ENST00000594947	4/4	219	176	43	261	261	0	strelka-varscan-mutect	ZNF257,missense_variant,p.Gln305Glu,ENST00000594947,NM_033468.2;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,3_prime_UTR_variant,,ENST00000435820,NM_001316996.1;	G	ENST00000594947	Transcript	missense_variant	1057/3874	913/1692	305/563	Q/E	Caa/Gaa	COSM1304324,COSM1392121,COSM4855525	1		1	ZNF257	HGNC	HGNC:13498	protein_coding	YES	CCDS46030.1	ENSP00000470209	Q9Y2Q1		UPI0000E045CA	NM_033468.2	tolerated(0.49)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1,1,1						MODERATE	1	SNV	4		1,1,1	1										PASS		rs1348976473	.												G	3	3	46	22088663	22088663	C	G	1	0	0	0	0	1	0	0	0	18376	827	29	4		4	ZNF257	19	22088663	Missense_Mutation	SNP	C	C3N-00294_TP	1030960	22088663	36528953	1155	14657											
ZNF726	0	.	GRCh38	chr19	23932393	23932393	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccagagcagggcgtggaaGattcttttcaaaaagtaata	14	9	12	6	1	2	2	1	0	1	2	2	3	2	3	1	3	1	2	1	3	5	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.277G>C	p.Asp93His	p.D93H	ENST00000594466	4/4	24	17	7	26	26	0	strelka-varscan-mutect	ZNF726,missense_variant,p.Asp93His,ENST00000594466,NM_001244038.1;ZNF726,missense_variant,p.Asp93His,ENST00000322487,;ZNF726,intron_variant,,ENST00000575986,;ZNF726,intron_variant,,ENST00000334589,;CTB-92J24.3,intron_variant,,ENST00000596326,;CTB-92J24.2,downstream_gene_variant,,ENST00000594230,;ZNF92P3,upstream_gene_variant,,ENST00000596594,;	C	ENST00000594466	Transcript	missense_variant	382/2473	277/1851	93/616	D/H	Gat/Cat		1		1	ZNF726	HGNC	HGNC:32462	protein_coding	YES	CCDS59372.1	ENSP00000471516	A6NNF4		UPI0002255F7F	NM_001244038.1	deleterious(0.01)		4/4		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF328																	MODERATE		SNV	5			1										PASS		rs1198045649	.												C	3	2	46	23932393	23932393	G	C	1	0	0	0	0	1	0	0	0	18700	942	33	4		4	ZNF726	19	23932393	Missense_Mutation	SNP	G	C3N-00294_TP	1843730	23932393	34685223	1156	14658											
ANKRD27	0	.	GRCh38	chr19	32642049	32642049	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcttggagactgtgtaatGagctgcaccacttttcgcaa	9	12	11	9	1	0	2	0	1	0	1	1	3	0	2	1	2	2	5	1	2	2	4	rs758481090		C3N-00294_TP	C3N-00294_NB	G	G																c.879C>G	p.=	p.L293L	ENST00000306065	10/29	80	65	15	64	64	0	strelka-varscan-mutect	ANKRD27,synonymous_variant,p.=,ENST00000306065,NM_032139.2;ANKRD27,synonymous_variant,p.=,ENST00000587352,;ANKRD27,intron_variant,,ENST00000591100,;ANKRD27,downstream_gene_variant,,ENST00000590519,;ANKRD27,downstream_gene_variant,,ENST00000586463,;ANKRD27,downstream_gene_variant,,ENST00000586693,;ANKRD27,downstream_gene_variant,,ENST00000588700,;ANKRD27,downstream_gene_variant,,ENST00000593232,;	C	ENST00000306065	Transcript	synonymous_variant	1038/4450	879/3153	293/1050	L	ctC/ctG	rs758481090,COSM710419	1		-1	ANKRD27	HGNC	HGNC:25310	protein_coding	YES	CCDS32986.1	ENSP00000304292	Q96NW4		UPI000004FDE9	NM_032139.2			10/29		PROSITE_profiles:PS51205,hmmpanther:PTHR24170,hmmpanther:PTHR24170:SF1,Pfam_domain:PF02204,SMART_domains:SM00167,Superfamily_domains:0044157											0,1						LOW	1	SNV	1		0,1	1										PASS		rs758481090	.												C	2	2	46	32642049	32642049	G	C	1	0	0	0	0	0	0	0	1	758	1277	45	4		4	ANKRD27	19	32642049	Silent	SNP	G	C3N-00294_TP	8709656	32642049	25975567	1157	14659											
RGS9BP	0	.	GRCh38	chr19	32676377	32676377	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactcgcagaacctgcggcaGgagctgcaaaagacgcgcca	12	3	13	13	4	0	2	0	0	0	2	1	4	0	3	2	2	4	4	2	2	3	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.114G>C	p.Gln38His	p.Q38H	ENST00000334176	1/1	229	183	46	243	243	0	strelka-varscan-mutect	RGS9BP,missense_variant,p.Gln38His,ENST00000334176,NM_207391.2;ANKRD27,5_prime_UTR_variant,,ENST00000590519,;ANKRD27,upstream_gene_variant,,ENST00000306065,NM_032139.2;ANKRD27,upstream_gene_variant,,ENST00000587352,;ANKRD27,upstream_gene_variant,,ENST00000586463,;ANKRD27,upstream_gene_variant,,ENST00000586693,;CTC-379B2.4,downstream_gene_variant,,ENST00000589127,;ANKRD27,upstream_gene_variant,,ENST00000588700,;	C	ENST00000334176	Transcript	missense_variant	971/2894	114/708	38/235	Q/H	caG/caC		1		1	RGS9BP	HGNC	HGNC:30304	protein_coding	YES	CCDS12424.1	ENSP00000334134	Q6ZS82		UPI0000198BA8	NM_207391.2	deleterious(0)		1/1		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21029,hmmpanther:PTHR21029:SF1																	MODERATE		SNV				1										PASS		rs1275510278	.												C	3	2	46	32676377	32676377	G	C	1	0	0	0	0	1	0	0	0	13485	991	35	4		4	RGS9BP	19	32676377	Missense_Mutation	SNP	G	C3N-00294_TP	34328	32676377	25941239	1158	14660											
CHST8	0	.	GRCh38	chr19	33772993	33772993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggccctgcaaaggcagcGcacctacgacttctactaca	10	7	8	16	3	1	0	0	0	1	0	2	1	1	0	2	2	5	3	2	2	4	4			C3N-00294_TP	C3N-00294_NB	G	G																c.1205G>A	p.Arg402His	p.R402H	ENST00000262622	4/4	181	141	40	184	184	0	strelka-varscan-mutect	CHST8,missense_variant,p.Arg402His,ENST00000262622,NM_022467.3;CHST8,missense_variant,p.Arg402His,ENST00000434302,NM_001127895.1;CHST8,missense_variant,p.Arg402His,ENST00000438847,NM_001127896.1;CHST8,downstream_gene_variant,,ENST00000591231,;	A	ENST00000262622	Transcript	missense_variant	1963/2479	1205/1275	402/424	R/H	cGc/cAc	COSM4076809	1		1	CHST8	HGNC	HGNC:15993	protein_coding	YES	CCDS12433.1	ENSP00000262622	Q9H2A9		UPI000006F966	NM_022467.3	tolerated(0.11)		4/4		Pfam_domain:PF03567,hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF7											1						MODERATE	1	SNV	1		1	1										PASS		rs916046058	.												A	3	1	46	33772993	33772993	G	A	1	0	0	0	0	1	0	0	0	3170	1087	38	1		1	CHST8	19	33772993	Missense_Mutation	SNP	G	C3N-00294_TP	1096616	33772993	24844623	1159	14661											
ZNF345	0	.	GRCh38	chr19	36877002	36877002	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcatcagagaattcatactGatgagaaactccttgaatgt	15	11	8	7	0	2	4	2	3	0	2	3	6	3	4	1	0	3	1	1	0	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.172G>C	p.Asp58His	p.D58H	ENST00000529555	2/2	144	108	36	166	166	0	strelka-varscan-mutect	ZNF345,missense_variant,p.Asp58His,ENST00000529555,;ZNF345,missense_variant,p.Asp58His,ENST00000589046,NM_003419.4;ZNF345,missense_variant,p.Asp58His,ENST00000614069,NM_001242474.1;ZNF345,missense_variant,p.Asp58His,ENST00000612719,NM_001242476.1,NM_001242475.1;ZNF345,missense_variant,p.Asp58His,ENST00000420450,NM_001242472.1;ZNF345,missense_variant,p.Asp58His,ENST00000585396,;ZNF345,missense_variant,p.Asp58His,ENST00000532141,;ZNF345,missense_variant,p.Asp58His,ENST00000586646,;ZNF345,missense_variant,p.Asp58His,ENST00000331800,;ZNF345,intron_variant,,ENST00000586933,;ZNF345,intron_variant,,ENST00000526123,;ZNF345,intron_variant,,ENST00000432005,;ZNF345,intron_variant,,ENST00000529989,;ZNF345,intron_variant,,ENST00000525851,;ZNF345,intron_variant,,ENST00000534729,;	C	ENST00000529555	Transcript	missense_variant	960/3527	172/1467	58/488	D/H	Gat/Cat		1		1	ZNF345	HGNC	HGNC:16367	protein_coding	YES	CCDS12497.1	ENSP00000431202	Q14585		UPI000013C364		deleterious(0.01)		2/2		Gene3D:3.30.160.60,hmmpanther:PTHR24377,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	36877002	36877002	G	C	1	0	0	0	0	1	0	0	0	18431	1290	45	4		4	ZNF345	19	36877002	Missense_Mutation	SNP	G	C3N-00294_TP	3104009	36877002	21740614	1160	14662											
ZNF527	0	.	GRCh38	chr19	37388820	37388820	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttttcaaagctcttaagtttCcactcattatttactcaaca	12	17	2	10	0	4	0	3	0	1	0	5	0	5	0	1	0	3	2	1	0	5	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.771C>T	p.=	p.F257F	ENST00000436120	5/5	68	62	6	110	110	0	strelka-varscan-mutect	ZNF527,synonymous_variant,p.=,ENST00000436120,NM_032453.1;ZNF527,intron_variant,,ENST00000587349,;ZNF527,downstream_gene_variant,,ENST00000483919,;ZNF527,downstream_gene_variant,,ENST00000588911,;ZNF527,3_prime_UTR_variant,,ENST00000356178,;ZNF527,downstream_gene_variant,,ENST00000588512,;	T	ENST00000436120	Transcript	synonymous_variant	878/2828	771/1830	257/609	F	ttC/ttT		1		1	ZNF527	HGNC	HGNC:29385	protein_coding	YES	CCDS42559.1	ENSP00000390179	Q8NB42		UPI00002021F5	NM_032453.1			5/5		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF71,Superfamily_domains:SSF57667																	LOW	1	SNV	4			1										PASS		.	.												T	2	4	46	37388820	37388820	C	T	1	0	0	0	0	0	0	0	1	18541	854	30	3		3	ZNF527	19	37388820	Silent	SNP	C	C3N-00294_TP	511818	37388820	21228796	1161	14663											
MAP4K1	0	.	GRCh38	chr19	38609974	38609974	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggattcttcagtttgtcaaGaagatccaggatcaggcctc	10	11	11	9	0	4	2	3	0	1	2	6	4	5	4	2	3	0	1	2	3	2	3			C3N-00294_TP	C3N-00294_NB	G	G																c.862C>G	p.Leu288Val	p.L288V	ENST00000591517	12/32	229	194	35	236	236	0	strelka-varscan-mutect	MAP4K1,missense_variant,p.Leu288Val,ENST00000591517,NM_007181.5;MAP4K1,missense_variant,p.Leu284Val,ENST00000589130,;MAP4K1,missense_variant,p.Leu288Val,ENST00000396857,NM_001042600.2;MAP4K1,missense_variant,p.Leu288Val,ENST00000586296,;MAP4K1,upstream_gene_variant,,ENST00000591921,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000589002,;MAP4K1,3_prime_UTR_variant,,ENST00000585583,;MAP4K1,downstream_gene_variant,,ENST00000591707,;MAP4K1,downstream_gene_variant,,ENST00000592888,;MAP4K1,downstream_gene_variant,,ENST00000592225,;MAP4K1,downstream_gene_variant,,ENST00000588083,;	C	ENST00000591517	Transcript	missense_variant	891/2700	862/2502	288/833	L/V	Ctt/Gtt	COSM3533540,COSM3533541	1		-1	MAP4K1	HGNC	HGNC:6863	protein_coding	YES	CCDS59385.1	ENSP00000465039	Q92918		UPI00000747ED	NM_007181.5	deleterious(0.02)		12/32		hmmpanther:PTHR24361:SF88,hmmpanther:PTHR24361,PIRSF_domain:PIRSF038172											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	46	38609974	38609974	G	C	1	0	0	0	0	1	0	0	0	9183	942	33	4		4	MAP4K1	19	38609974	Missense_Mutation	SNP	G	C3N-00294_TP	1221154	38609974	20007642	1162	14664											
HNRNPL	0	.	GRCh38	chr19	38846044	38846044	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaagcccccaacacatcttCaaactccaccagtgcttgtc	11	8	5	17	0	2	0	1	0	1	0	4	0	3	0	4	0	4	2	4	0	3	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.433G>C	p.Glu145Gln	p.E145Q	ENST00000221419	3/13	277	223	54	259	259	0	strelka-varscan-mutect	HNRNPL,missense_variant,p.Glu145Gln,ENST00000221419,NM_001533.2;HNRNPL,missense_variant,p.Glu86Gln,ENST00000601449,;HNRNPL,missense_variant,p.Glu12Gln,ENST00000600873,NM_001005335.1;HNRNPL,missense_variant,p.Glu77Gln,ENST00000600233,;HNRNPL,missense_variant,p.Glu80Gln,ENST00000601813,;AC008982.2,upstream_gene_variant,,ENST00000600473,;HNRNPL,missense_variant,p.Glu12Gln,ENST00000388749,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000601047,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000598985,;HNRNPL,non_coding_transcript_exon_variant,,ENST00000600741,;HNRNPL,upstream_gene_variant,,ENST00000597731,;HNRNPL,upstream_gene_variant,,ENST00000595164,;	G	ENST00000221419	Transcript	missense_variant	800/2471	433/1770	145/589	E/Q	Gaa/Caa		1		-1	HNRNPL	HGNC	HGNC:5045	protein_coding	YES	CCDS33015.1	ENSP00000221419	P14866		UPI00004432FA	NM_001533.2	deleterious(0)		3/13		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF472,SMART_domains:SM00360,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01649																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	38846044	38846044	C	G	1	0	0	0	0	1	0	0	0	7164	835	29	4		4	HNRNPL	19	38846044	Missense_Mutation	SNP	C	C3N-00294_TP	236070	38846044	19771572	1163	14665											
DYRK1B	0	.	GRCh38	chr19	39828459	39828459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagagctgctgcgccagcttCcgggtcaggttcagcgagac	7	7	14	13	3	2	2	2	0	0	2	3	3	3	2	2	2	5	4	2	2	0	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.645G>A	p.=	p.R215R	ENST00000593685	6/11	386	306	80	482	482	0	strelka-varscan-mutect	DYRK1B,synonymous_variant,p.=,ENST00000593685,;DYRK1B,synonymous_variant,p.=,ENST00000323039,NM_004714.2;DYRK1B,synonymous_variant,p.=,ENST00000348817,NM_006484.2;DYRK1B,synonymous_variant,p.=,ENST00000430012,NM_006483.2;DYRK1B,synonymous_variant,p.=,ENST00000597639,;DYRK1B,downstream_gene_variant,,ENST00000601972,;DYRK1B,downstream_gene_variant,,ENST00000600611,;MIR6719,downstream_gene_variant,,ENST00000622428,;DYRK1B,non_coding_transcript_exon_variant,,ENST00000601696,;	T	ENST00000593685	Transcript	synonymous_variant	1114/2724	645/1890	215/629	R	cgG/cgA		1		-1	DYRK1B	HGNC	HGNC:3092	protein_coding	YES	CCDS12543.1	ENSP00000469863	Q9Y463	A0A024R0I0	UPI0000001059				6/11		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF27,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	46	39828459	39828459	C	T	1	0	0	0	0	0	0	0	1	4679	842	30	3		3	DYRK1B	19	39828459	Silent	SNP	C	C3N-00294_TP	982415	39828459	18789157	1164	14666											
PHLDB3	0	.	GRCh38	chr19	43502268	43502268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtggccgccatagctatcgGaggcgtagcctcgggctgaa	7	8	15	11	4	0	1	0	1	0	0	2	2	0	2	3	4	2	3	3	4	4	3	rs536138718		C3N-00294_TP	C3N-00294_NB	G	G																c.229C>T	p.Pro77Ser	p.P77S	ENST00000292140	3/16	87	70	17	127	127	0	strelka-varscan-mutect	PHLDB3,missense_variant,p.Pro77Ser,ENST00000292140,NM_198850.3;PHLDB3,missense_variant,p.Pro77Ser,ENST00000599242,;PHLDB3,missense_variant,p.Pro77Ser,ENST00000594808,;PHLDB3,missense_variant,p.Pro77Ser,ENST00000601646,;ETHE1,downstream_gene_variant,,ENST00000292147,NM_014297.3;PHLDB3,upstream_gene_variant,,ENST00000600660,;PHLDB3,non_coding_transcript_exon_variant,,ENST00000596902,;ETHE1,downstream_gene_variant,,ENST00000594342,;	A	ENST00000292140	Transcript	missense_variant	590/2591	229/1923	77/640	P/S	Ccg/Tcg	rs536138718	1		-1	PHLDB3	HGNC	HGNC:30499	protein_coding	YES	CCDS12621.2	ENSP00000292140	Q6NSJ2		UPI00015C725F	NM_198850.3	tolerated(0.34)		3/16		Low_complexity_(Seg):seg,hmmpanther:PTHR12156:SF22,hmmpanther:PTHR12156																	MODERATE		SNV	5			1										PASS		rs536138718	.												A	3	1	46	43502268	43502268	G	A	1	0	0	0	0	1	0	0	0	11941	1174	41	3		3	PHLDB3	19	43502268	Missense_Mutation	SNP	G	C3N-00294_TP	3673809	43502268	15115348	1165	14667											
ZNF404	0	.	GRCh38	chr19	43874032	43874033	+	Frame_Shift_Ins	INS	-	-	T																															cgcatttacttcataatttcINSttttttctgaagataacttg																								novel		C3N-00294_TP	C3N-00294_NB	-	-																c.181dupA	p.Arg61LysfsTer4	p.R61Kfs*4	ENST00000587539	3/3	28	22	6	82	82	0	sindel-varindel-pindel	ZNF404,frameshift_variant,p.Arg61LysfsTer4,ENST00000587539,NM_001033719.2;ZNF404,frameshift_variant,p.Arg60LysfsTer4,ENST00000324394,;	T	ENST00000587539	Transcript	frameshift_variant	181-182/1851	181-182/1659	61/552	R/KX	aga/aAga		1		-1	ZNF404	HGNC	HGNC:19417	protein_coding	YES	CCDS59394.1	ENSP00000466051	Q494X3		UPI00001D8172	NM_001033719.2			3/3		PROSITE_profiles:PS50805,hmmpanther:PTHR24381:SF53,hmmpanther:PTHR24381,SMART_domains:SM00349																	HIGH	1	insertion	5			1										PASS		.	.												T	7	5	46	43874032	43874032	-	T	1	0	1	1	0	0	0	0	0	18458	913	32	0		0	ZNF404	19	43874032	Frame_Shift_Ins	INS	-	C3N-00294_TP	371764	43874032	14743584	1166	14668											
BLOC1S3	0	.	GRCh38	chr19	45179630	45179630	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctcgctcctgcaacttCggctggcggagagccaggcg	5	6	15	15	6	0	1	0	0	0	1	3	2	1	1	2	4	3	4	2	4	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.334C>A	p.=	p.R112R	ENST00000433642	2/2	135	111	24	106	106	0	strelka-varscan-mutect	BLOC1S3,synonymous_variant,p.=,ENST00000433642,NM_212550.3;BLOC1S3,synonymous_variant,p.=,ENST00000587722,;MARK4,intron_variant,,ENST00000587566,;TRAPPC6A,upstream_gene_variant,,ENST00000006275,NM_024108.2;TRAPPC6A,upstream_gene_variant,,ENST00000585934,NM_001270891.1;TRAPPC6A,upstream_gene_variant,,ENST00000588062,NM_001270893.1;TRAPPC6A,upstream_gene_variant,,ENST00000592647,NM_001270892.1;BLOC1S3,upstream_gene_variant,,ENST00000592910,;BLOC1S3,upstream_gene_variant,,ENST00000588362,;AC005779.2,upstream_gene_variant,,ENST00000593083,;TRAPPC6A,upstream_gene_variant,,ENST00000587818,;	A	ENST00000433642	Transcript	synonymous_variant	430/2601	334/609	112/202	R	Cgg/Agg		1		1	BLOC1S3	HGNC	HGNC:20914	protein_coding	YES	CCDS12656.1	ENSP00000393840	Q6QNY0		UPI0000202628	NM_212550.3			2/2		hmmpanther:PTHR31974,PIRSF_domain:PIRSF037630,Pfam_domain:PF15753																	LOW		SNV	2			1										PASS		rs1470568928	.												A	2	1	46	45179630	45179630	C	A	1	0	0	0	0	0	0	0	1	1602	875	31	1		1	BLOC1S3	19	45179630	Silent	SNP	C	C3N-00294_TP	1305598	45179630	13437986	1167	14669											
MARK4	0	.	GRCh38	chr19	45302553	45302553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgctggcctgcctgcacgGgggtgcgggcgggcccgagc	2	5	19	15	4	0	0	0	0	0	0	0	1	0	0	4	5	5	2	4	5	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2102G>A	p.Gly701Glu	p.G701E	ENST00000262891	17/17	237	200	37	218	218	0	strelka-varscan-mutect	MARK4,missense_variant,p.Gly701Glu,ENST00000262891,NM_001199867.1;MARK4,missense_variant,p.Gly28Glu,ENST00000622871,;MARK4,3_prime_UTR_variant,,ENST00000300843,NM_031417.3;MARK4,3_prime_UTR_variant,,ENST00000620044,;CKM,downstream_gene_variant,,ENST00000221476,NM_001824.4;	A	ENST00000262891	Transcript	missense_variant	2433/3573	2102/2259	701/752	G/E	gGg/gAg		1		1	MARK4	HGNC	HGNC:13538	protein_coding	YES	CCDS56097.1	ENSP00000262891	Q96L34		UPI0000044D47	NM_001199867.1	deleterious(0.02)		17/17		hmmpanther:PTHR24346,Gene3D:3.30.310.80,Superfamily_domains:SSF103243																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	45302553	45302553	G	A	1	0	0	0	0	1	0	0	0	9240	1232	43	3		3	MARK4	19	45302553	Missense_Mutation	SNP	G	C3N-00294_TP	122923	45302553	13315063	1168	14670											
MYPOP	0	.	GRCh38	chr19	45901588	45901588	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctggtgataccgttgatCttggcggcgatgccgtccca	6	10	13	12	4	1	2	0	2	1	0	2	3	2	2	3	3	3	2	3	3	1	3	rs771797600		C3N-00294_TP	C3N-00294_NB	C	C																c.186G>C	p.Lys62Asn	p.K62N	ENST00000322217	2/3	231	185	46	280	280	0	strelka-varscan-mutect	MYPOP,missense_variant,p.Lys62Asn,ENST00000322217,NM_001012643.3;	G	ENST00000322217	Transcript	missense_variant	273/1890	186/1200	62/399	K/N	aaG/aaC	rs771797600,COSM3357161	1		-1	MYPOP	HGNC	HGNC:20178	protein_coding	YES	CCDS33055.1	ENSP00000325402	Q86VE0		UPI00001984F8	NM_001012643.3	deleterious(0)		2/3		Gene3D:1.10.10.60,Pfam_domain:PF13873,PROSITE_profiles:PS50090,hmmpanther:PTHR32345,hmmpanther:PTHR32345:SF3,SMART_domains:SM00717											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs771797600	.												G	3	3	46	45901588	45901588	C	G	1	0	0	0	0	1	0	0	0	10100	912	32	4		4	MYPOP	19	45901588	Missense_Mutation	SNP	C	C3N-00294_TP	599035	45901588	12716028	1169	14671											
INAFM1	0	.	GRCh38	chr19	47275263	47275263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgctgagccgccgccGccgctacagcgaccctgacc	5	4	12	20	6	0	2	0	2	0	0	0	3	0	2	7	0	4	3	7	0	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.344G>A	p.Arg115His	p.R115H	ENST00000552360	1/1	307	245	62	277	276	1	strelka-varscan-mutect	INAFM1,missense_variant,p.Arg115His,ENST00000552360,NM_178511.5;CCDC9,downstream_gene_variant,,ENST00000221922,NM_015603.2;CCDC9,downstream_gene_variant,,ENST00000600117,;	A	ENST00000552360	Transcript	missense_variant	811/1255	344/429	115/142	R/H	cGc/cAc		1		1	INAFM1	HGNC	HGNC:27406	protein_coding	YES	CCDS46131.1	ENSP00000447679	C9JVW0		UPI0000070F52	NM_178511.5	tolerated_low_confidence(0.09)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR34929:SF1,hmmpanther:PTHR34929																	MODERATE		SNV				1										PASS		.	.												A	3	1	46	47275263	47275263	G	A	1	0	0	0	0	1	0	0	0	7633	1087	38	1		1	INAFM1	19	47275263	Missense_Mutation	SNP	G	C3N-00294_TP	1373675	47275263	11342353	1170	14672											
SPHK2	0	.	GRCh38	chr19	48629652	48629652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctagagccgctcacacCacgcggcgtgctcacagtgg	7	5	12	17	5	2	1	2	0	0	1	2	1	2	1	4	2	2	2	4	2	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1844C>T	p.Pro615Leu	p.P615L	ENST00000245222	7/7	95	88	7	107	107	0	strelka-varscan-mutect	SPHK2,missense_variant,p.Pro579Leu,ENST00000599029,;SPHK2,missense_variant,p.Pro615Leu,ENST00000245222,NM_020126.4;SPHK2,missense_variant,p.Pro615Leu,ENST00000598088,NM_001204159.2;SPHK2,missense_variant,p.Pro579Leu,ENST00000599748,NM_001204160.2;SPHK2,missense_variant,p.Pro409Leu,ENST00000340932,NM_001243876.1;SPHK2,missense_variant,p.Pro556Leu,ENST00000600537,NM_001204158.2;DBP,downstream_gene_variant,,ENST00000222122,NM_001352.4;DBP,downstream_gene_variant,,ENST00000601104,;SPHK2,downstream_gene_variant,,ENST00000601712,;SPHK2,downstream_gene_variant,,ENST00000593308,;DBP,downstream_gene_variant,,ENST00000593500,;DBP,downstream_gene_variant,,ENST00000599385,;SPHK2,downstream_gene_variant,,ENST00000601704,;SPHK2,downstream_gene_variant,,ENST00000599033,;SPHK2,3_prime_UTR_variant,,ENST00000426514,;SPHK2,intron_variant,,ENST00000597434,;DBP,downstream_gene_variant,,ENST00000594723,;SPHK2,downstream_gene_variant,,ENST00000598574,;	T	ENST00000245222	Transcript	missense_variant	2210/2963	1844/1965	615/654	P/L	cCa/cTa		1		1	SPHK2	HGNC	HGNC:18859	protein_coding	YES	CCDS12727.1	ENSP00000245222	Q9NRA0	A0A024QZH5	UPI0000135E14	NM_020126.4	deleterious(0.02)		7/7		hmmpanther:PTHR12358:SF40,hmmpanther:PTHR12358,Superfamily_domains:SSF111331																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	48629652	48629652	C	T	1	0	0	0	0	1	0	0	0	15398	594	21	3		3	SPHK2	19	48629652	Missense_Mutation	SNP	C	C3N-00294_TP	1354389	48629652	9987964	1171	14673											
BAX	0	.	GRCh38	chr19	48955789	48955789	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagctgagcgagtgtctCaagcgcatcggggacgaact	12	6	14	9	4	1	2	1	1	1	1	3	5	1	3	0	2	4	2	0	2	4	0			C3N-00294_TP	C3N-00294_NB	C	C																c.189C>T	p.=	p.L63L	ENST00000293288	3/5	68	58	10	86	86	0	strelka-varscan-mutect	BAX,synonymous_variant,p.=,ENST00000293288,NM_004324.3;BAX,synonymous_variant,p.=,ENST00000345358,NM_001291428.1,NM_138761.3;BAX,synonymous_variant,p.=,ENST00000391871,;BAX,synonymous_variant,p.=,ENST00000415969,NM_138764.4;BAX,intron_variant,,ENST00000539787,NM_001291430.1;BAX,intron_variant,,ENST00000354470,NM_138763.3;BAX,intron_variant,,ENST00000506183,;BAX,synonymous_variant,p.=,ENST00000356483,;BAX,3_prime_UTR_variant,,ENST00000515540,;BAX,non_coding_transcript_exon_variant,,ENST00000502487,;BAX,non_coding_transcript_exon_variant,,ENST00000513545,;BAX,non_coding_transcript_exon_variant,,ENST00000503726,;BAX,upstream_gene_variant,,ENST00000513217,;	T	ENST00000293288	Transcript	synonymous_variant	189/1358	189/657	63/218	L	ctC/ctT	COSM5203154,COSM5203155	1		1	BAX	HGNC	HGNC:959	protein_coding	YES	CCDS12744.1	ENSP00000293288	Q07812		UPI000000D900	NM_004324.3			3/5		PROSITE_profiles:PS50062,hmmpanther:PTHR11256,hmmpanther:PTHR11256:SF44,PROSITE_patterns:PS01259,Pfam_domain:PF00452,Gene3D:1.10.437.10,SMART_domains:SM00337,Superfamily_domains:SSF56854											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	46	48955789	48955789	C	T	1	0	0	0	0	0	0	0	1	1473	813	29	3		3	BAX	19	48955789	Silent	SNP	C	C3N-00294_TP	326137	48955789	9661827	1172	14674											
CGB3	0	.	GRCh38	chr19	49023059	49023059	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggcggcagagtgcacattGacagctgagagccacggcgt	9	5	16	11	4	0	3	0	2	0	2	0	4	0	3	1	3	3	3	1	3	0	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.325C>G	p.Gln109Glu	p.Q109E	ENST00000357383	3/3	37	29	8	39	39	0	varscan-mutect	CGB3,missense_variant,p.Gln109Glu,ENST00000357383,NM_000737.3;CTB-60B18.6,missense_variant,p.Gln95Glu,ENST00000591656,;CTB-60B18.10,upstream_gene_variant,,ENST00000637680,;CTB-60B18.6,downstream_gene_variant,,ENST00000604577,;CTB-60B18.10,upstream_gene_variant,,ENST00000600007,;NTF6A,downstream_gene_variant,,ENST00000591175,;	C	ENST00000357383	Transcript	missense_variant	687/877	325/498	109/165	Q/E	Caa/Gaa		1		-1	CGB3	HGNC	HGNC:1886	protein_coding	YES	CCDS12749.1	ENSP00000349954	P0DN86	A0A0F7RQP8	UPI0000035497	NM_000737.3	tolerated(0.44)		3/3		hmmpanther:PTHR11515:SF16,hmmpanther:PTHR11515,PROSITE_patterns:PS00689,Gene3D:2.10.90.10,Pfam_domain:PF00007,SMART_domains:SM00068,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	49023059	49023059	G	C	1	0	0	0	0	1	0	0	0	3056	1299	45	4		4	CGB3	19	49023059	Missense_Mutation	SNP	G	C3N-00294_TP	67270	49023059	9594557	1173	14675											
CGB2	0	.	GRCh38	chr19	49033048	49033048	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgccgtggctctcagctgtCaatgtgcactctgccgccgc	5	9	11	16	4	3	0	2	0	2	0	4	0	3	0	3	1	3	3	3	1	1	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.319C>G	p.Gln107Glu	p.Q107E	ENST00000359342	3/3	77	65	12	99	99	0	varscan-mutect	CGB2,missense_variant,p.Gln95Glu,ENST00000474913,NM_001319065.1;CGB2,missense_variant,p.Gln107Glu,ENST00000359342,NM_033378.1;CTB-60B18.6,intron_variant,,ENST00000591656,;CTB-60B18.6,intron_variant,,ENST00000604577,;CGB1,downstream_gene_variant,,ENST00000601167,;CGB1,downstream_gene_variant,,ENST00000301407,NM_033377.1;NTF6G,downstream_gene_variant,,ENST00000591094,;	G	ENST00000359342	Transcript	missense_variant	437/627	319/492	107/163	Q/E	Caa/Gaa		1		1	CGB2	HGNC	HGNC:16722	protein_coding	YES	CCDS12750.2	ENSP00000352295		H9KV56	UPI000059D759	NM_033378.1	tolerated(0.34)		3/3		Gene3D:2.10.90.10,Pfam_domain:PF00007,PROSITE_patterns:PS00689,hmmpanther:PTHR11515,hmmpanther:PTHR11515:SF16,SMART_domains:SM00068,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		rs1254010744	.												G	3	3	46	49033048	49033048	C	G	1	0	0	0	0	1	0	0	0	3055	827	29	4		4	CGB2	19	49033048	Missense_Mutation	SNP	C	C3N-00294_TP	9989	49033048	9584568	1174	14676											
PPFIA3	0	.	GRCh38	chr19	49150106	49150106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctgggagttcccgggcaGacggcgtttcggtccggacc	4	9	15	13	5	1	1	0	0	1	1	4	3	3	3	3	5	0	3	3	5	0	3			C3N-00294_TP	C3N-00294_NB	G	G																c.3553G>C	p.Asp1185His	p.D1185H	ENST00000334186	29/30	157	128	29	191	191	0	strelka-varscan-mutect	PPFIA3,missense_variant,p.Asp1185His,ENST00000334186,NM_003660.3;PPFIA3,missense_variant,p.Asp1176His,ENST00000602351,;PPFIA3,missense_variant,p.Asp268His,ENST00000602848,;PPFIA3,missense_variant,p.Asp234His,ENST00000602897,;HRC,downstream_gene_variant,,ENST00000252825,NM_002152.2;HRC,downstream_gene_variant,,ENST00000595625,;HRC,downstream_gene_variant,,ENST00000598858,;PPFIA3,3_prime_UTR_variant,,ENST00000602655,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000602783,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000602905,;PPFIA3,downstream_gene_variant,,ENST00000602800,;HRC,downstream_gene_variant,,ENST00000595167,;	C	ENST00000334186	Transcript	missense_variant	3902/4733	3553/3585	1185/1194	D/H	Gac/Cac	COSM4544353	1		1	PPFIA3	HGNC	HGNC:9247	protein_coding	YES	CCDS12758.1	ENSP00000335614	O75145		UPI00001AE464	NM_003660.3	deleterious_low_confidence(0)		29/30		hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF4											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	46	49150106	49150106	G	C	1	0	0	0	0	1	0	0	0	12420	942	33	4		4	PPFIA3	19	49150106	Missense_Mutation	SNP	G	C3N-00294_TP	117058	49150106	9467510	1175	14677											
HRC	0	.	GRCh38	chr19	49153497	49153497	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatggtgaagcggggctCatcttcctccagcccctcct	6	10	11	14	1	2	2	1	2	1	0	5	3	5	2	5	3	2	1	5	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1741G>T	p.Glu581Ter	p.E581*	ENST00000252825	1/6	35	25	10	40	40	0	strelka-varscan-mutect	HRC,stop_gained,p.Glu581Ter,ENST00000252825,NM_002152.2;HRC,stop_gained,p.Glu581Ter,ENST00000595625,;PPFIA3,downstream_gene_variant,,ENST00000334186,NM_003660.3;PPFIA3,downstream_gene_variant,,ENST00000602351,;TRPM4,upstream_gene_variant,,ENST00000252826,NM_017636.3;TRPM4,upstream_gene_variant,,ENST00000427978,NM_001195227.1;TRPM4,upstream_gene_variant,,ENST00000599628,;PPFIA3,downstream_gene_variant,,ENST00000602848,;PPFIA3,downstream_gene_variant,,ENST00000602897,;TRPM4,upstream_gene_variant,,ENST00000598691,;HRC,upstream_gene_variant,,ENST00000598858,;TRPM4,upstream_gene_variant,,ENST00000596338,;TRPM4,upstream_gene_variant,,ENST00000595519,NM_001321283.1;TRPM4,upstream_gene_variant,,ENST00000598502,NM_001321282.1;PPFIA3,downstream_gene_variant,,ENST00000602655,;TRPM4,upstream_gene_variant,,ENST00000598697,NM_001321285.1;PPFIA3,downstream_gene_variant,,ENST00000602783,;PPFIA3,downstream_gene_variant,,ENST00000602905,;HRC,upstream_gene_variant,,ENST00000595167,;	A	ENST00000252825	Transcript	stop_gained	1928/2385	1741/2100	581/699	E/*	Gag/Tag		1		-1	HRC	HGNC	HGNC:5178	protein_coding	YES	CCDS12759.1	ENSP00000252825	P23327		UPI0000135F21	NM_002152.2			1/6		hmmpanther:PTHR15054,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	46	49153497	49153497	C	A	1	0	0	0	0	0	1	0	0	7247	835	29	2		2	HRC	19	49153497	Nonsense_Mutation	SNP	C	C3N-00294_TP	3391	49153497	9464119	1176	14678											
FUZ	0	.	GRCh38	chr19	49809181	49809181	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgtggatacaactggctGaggggtgggctcggcccgca	7	7	16	11	2	0	1	0	1	0	0	1	2	0	2	2	6	2	3	2	6	2	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.768C>G	p.=	p.L256L	ENST00000313777	7/11	405	313	92	435	435	0	strelka-varscan-mutect	FUZ,synonymous_variant,p.=,ENST00000313777,NM_025129.4;FUZ,synonymous_variant,p.=,ENST00000533418,;FUZ,synonymous_variant,p.=,ENST00000528094,NM_001171937.1;AP2A1,downstream_gene_variant,,ENST00000354293,NM_130787.2;AP2A1,downstream_gene_variant,,ENST00000359032,NM_014203.2;FUZ,upstream_gene_variant,,ENST00000529634,;FUZ,downstream_gene_variant,,ENST00000529302,;FUZ,downstream_gene_variant,,ENST00000526575,;AC006942.4,intron_variant,,ENST00000600669,;FUZ,non_coding_transcript_exon_variant,,ENST00000527973,;FUZ,downstream_gene_variant,,ENST00000534008,;FUZ,3_prime_UTR_variant,,ENST00000377092,;FUZ,3_prime_UTR_variant,,ENST00000525130,;FUZ,3_prime_UTR_variant,,ENST00000525370,;AP2A1,downstream_gene_variant,,ENST00000600466,;AP2A1,downstream_gene_variant,,ENST00000601356,;AP2A1,downstream_gene_variant,,ENST00000597774,;FUZ,downstream_gene_variant,,ENST00000531017,;FUZ,downstream_gene_variant,,ENST00000528043,;FUZ,downstream_gene_variant,,ENST00000527111,;AP2A1,downstream_gene_variant,,ENST00000594838,;FUZ,downstream_gene_variant,,ENST00000525800,;FUZ,downstream_gene_variant,,ENST00000526435,;FUZ,downstream_gene_variant,,ENST00000527585,;FUZ,upstream_gene_variant,,ENST00000534138,;	C	ENST00000313777	Transcript	synonymous_variant	932/1675	768/1257	256/418	L	ctC/ctG		1		-1	FUZ	HGNC	HGNC:26219	protein_coding	YES	CCDS12781.1	ENSP00000313309	Q9BT04	A0A024QZF7	UPI00000736B0	NM_025129.4			7/11		hmmpanther:PTHR13559,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1446396688	.												C	2	2	46	49809181	49809181	G	C	1	0	0	0	0	0	0	0	1	5984	1277	45	4		4	FUZ	19	49809181	Silent	SNP	G	C3N-00294_TP	655684	49809181	8808435	1177	14679											
SHANK1	0	.	GRCh38	chr19	50702506	50702506	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagggagatctccccctCggcttgggcctggtaggact	5	9	14	13	1	2	1	1	0	1	1	4	3	2	2	3	5	0	3	3	5	1	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1708G>T	p.Glu570Ter	p.E570*	ENST00000293441	11/23	119	93	26	134	134	0	strelka-varscan-mutect	SHANK1,stop_gained,p.Glu570Ter,ENST00000293441,NM_016148.2;SHANK1,stop_gained,p.Glu570Ter,ENST00000391814,;SHANK1,stop_gained,p.Glu570Ter,ENST00000359082,;SHANK1,downstream_gene_variant,,ENST00000461154,;	A	ENST00000293441	Transcript	stop_gained	1727/6643	1708/6486	570/2161	E/*	Gag/Tag		1		-1	SHANK1	HGNC	HGNC:15474	protein_coding	YES	CCDS12799.1	ENSP00000293441	Q9Y566		UPI000013E109	NM_016148.2			11/23		PROSITE_profiles:PS50002,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044																	HIGH	1	SNV	1			1										PASS		rs941454412	.												A	4	1	46	50702506	50702506	C	A	1	0	0	0	0	0	1	0	0	14523	893	31	1		1	SHANK1	19	50702506	Nonsense_Mutation	SNP	C	C3N-00294_TP	893325	50702506	7915110	1178	14680											
C19orf48	0	.	GRCh38	chr19	50798259	50798259	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgggggtggctcctcccCtagcctgcaggaagcccttg	6	7	14	14	1	0	0	0	0	0	0	2	1	2	1	5	4	4	2	5	4	3	2			C3N-00294_TP	C3N-00294_NB	C	C																c.190G>C	p.Gly64Arg	p.G64R	ENST00000598463	5/5	143	83	60	106	106	0	strelka-varscan-mutect	C19orf48,missense_variant,p.Gly64Arg,ENST00000598463,NM_001290149.1;C19orf48,missense_variant,p.Gly64Arg,ENST00000345523,NM_001290152.1,NM_001290155.1,NM_199250.2,NM_001290151.1,NM_001290150.1;C19orf48,missense_variant,p.Gly64Arg,ENST00000391812,NM_199249.2,NM_001290154.1,NM_001290153.1;C19orf48,missense_variant,p.Gly64Arg,ENST00000596655,NM_032712.2;C19orf48,missense_variant,p.Gly64Arg,ENST00000597705,;C19orf48,missense_variant,p.Gly64Arg,ENST00000596287,;ACPT,downstream_gene_variant,,ENST00000270593,NM_033068.2;C19orf48,downstream_gene_variant,,ENST00000597493,;C19orf48,downstream_gene_variant,,ENST00000601267,;C19orf48,downstream_gene_variant,,ENST00000600373,;C19orf48,downstream_gene_variant,,ENST00000593287,;SNORD88C,downstream_gene_variant,,ENST00000408061,;SNORD88A,downstream_gene_variant,,ENST00000408314,;SNORD88B,downstream_gene_variant,,ENST00000408454,;CTD-2568A17.8,upstream_gene_variant,,ENST00000594114,;C19orf48,downstream_gene_variant,,ENST00000595794,;C19orf48,downstream_gene_variant,,ENST00000599004,;C19orf48,downstream_gene_variant,,ENST00000596554,;C19orf48,downstream_gene_variant,,ENST00000602125,;	G	ENST00000598463	Transcript	missense_variant	1289/1844	190/354	64/117	G/R	Ggg/Cgg	COSM334131	1		-1	C19orf48	HGNC	HGNC:29667	protein_coding	YES	CCDS12803.1	ENSP00000471463	Q6RUI8	A0A024R4G9	UPI000006ECB0	NM_001290149.1	deleterious_low_confidence(0)		5/5													1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	46	50798259	50798259	C	G	1	0	0	0	0	1	0	0	0	1914	681	24	4		4	C19orf48	19	50798259	Missense_Mutation	SNP	C	C3N-00294_TP	95753	50798259	7819357	1179	14681											
KLK1	0	.	GRCh38	chr19	50819982	50819982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgtgggcttttttgcactCatcattaggcaggattttga	8	15	11	7	1	2	1	2	1	0	0	2	3	2	2	0	3	1	3	0	3	1	6	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.550G>A	p.Glu184Lys	p.E184K	ENST00000301420	4/5	168	151	17	194	194	0	strelka-varscan-mutect	KLK1,missense_variant,p.Glu184Lys,ENST00000301420,NM_002257.3;MGC45922,downstream_gene_variant,,ENST00000635639,;MGC45922,downstream_gene_variant,,ENST00000634979,;MGC45922,downstream_gene_variant,,ENST00000326989,;MGC45922,downstream_gene_variant,,ENST00000593632,;KLK1,3_prime_UTR_variant,,ENST00000593325,;KLK1,non_coding_transcript_exon_variant,,ENST00000593859,;KLK1,non_coding_transcript_exon_variant,,ENST00000596300,;	T	ENST00000301420	Transcript	missense_variant	586/866	550/789	184/262	E/K	Gag/Aag		1		-1	KLK1	HGNC	HGNC:6357	protein_coding	YES	CCDS12804.1	ENSP00000301420	P06870		UPI000004CA0D	NM_002257.3	tolerated(0.81)		4/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF111,hmmpanther:PTHR24256,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	50819982	50819982	C	T	1	0	0	0	0	1	0	0	0	8266	835	29	3		3	KLK1	19	50819982	Missense_Mutation	SNP	C	C3N-00294_TP	21723	50819982	7797634	1180	14682											
SIGLEC8	0	.	GRCh38	chr19	51455473	51455473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgctgggagccctgagcGttctgagctcggcaggtgaa	7	9	16	9	2	1	3	0	3	1	0	2	4	1	4	1	3	4	4	1	3	1	1	rs771076418		C3N-00294_TP	C3N-00294_NB	G	G																c.996C>A	p.Asn332Lys	p.N332K	ENST00000321424	4/7	200	132	68	261	261	0	strelka-varscan-mutect	SIGLEC8,missense_variant,p.Asn332Lys,ENST00000321424,NM_014442.2;SIGLEC8,missense_variant,p.Asn223Lys,ENST00000430817,;SIGLEC8,missense_variant,p.Asn239Lys,ENST00000340550,;SIGLEC8,downstream_gene_variant,,ENST00000597352,;	T	ENST00000321424	Transcript	missense_variant	1063/2949	996/1500	332/499	N/K	aaC/aaA	rs771076418,COSM235355	1		-1	SIGLEC8	HGNC	HGNC:10877	protein_coding	YES	CCDS33086.1	ENSP00000321077	Q9NYZ4		UPI000013598B	NM_014442.2	deleterious(0.01)		4/7		PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs771076418	.												T	3	4	46	51455473	51455473	G	T	1	0	0	0	0	1	0	0	0	14578	1136	40	1		1	SIGLEC8	19	51455473	Missense_Mutation	SNP	G	C3N-00294_TP	635491	51455473	7162143	1181	14683											
SIGLEC12	0	.	GRCh38	chr19	51499627	51499627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtggggggcgtcccctgttCacaggcccagggcacagagc	6	5	16	14	2	1	1	1	0	0	1	2	1	2	1	3	5	1	2	3	5	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.898G>A	p.Glu300Lys	p.E300K	ENST00000291707	3/8	132	101	31	123	123	0	strelka-varscan-mutect	SIGLEC12,missense_variant,p.Glu300Lys,ENST00000291707,NM_053003.3;SIGLEC12,missense_variant,p.Glu182Lys,ENST00000598614,NM_033329.2;SIGLEC12,3_prime_UTR_variant,,ENST00000596742,;	T	ENST00000291707	Transcript	missense_variant	954/2121	898/1788	300/595	E/K	Gaa/Aaa		1		-1	SIGLEC12	HGNC	HGNC:15482	protein_coding	YES	CCDS12833.1	ENSP00000291707	Q96PQ1		UPI0000135992	NM_053003.3	tolerated(0.3)		3/8		PROSITE_profiles:PS50835,hmmpanther:PTHR12035:SF53,hmmpanther:PTHR12035,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	51499627	51499627	C	T	1	0	0	0	0	1	0	0	0	14572	835	29	3		3	SIGLEC12	19	51499627	Missense_Mutation	SNP	C	C3N-00294_TP	44154	51499627	7117989	1182	14684											
ZNF649	0	.	GRCh38	chr19	51891813	51891813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatatgatttcaaagttcttCcgtgttcatagcgttgtccc	9	16	7	9	2	3	1	2	1	1	0	5	1	5	1	2	0	1	3	2	0	4	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.323G>A	p.Gly108Glu	p.G108E	ENST00000354957	5/5	103	91	12	97	97	0	strelka-varscan-mutect	ZNF649,missense_variant,p.Gly108Glu,ENST00000354957,NM_023074.3;ZNF649,missense_variant,p.Gly108Glu,ENST00000600738,;ZNF577,upstream_gene_variant,,ENST00000301399,NM_032679.2;ZNF649-AS1,intron_variant,,ENST00000600329,;ZNF649,downstream_gene_variant,,ENST00000599671,;ZNF649,downstream_gene_variant,,ENST00000597882,;	T	ENST00000354957	Transcript	missense_variant	608/3197	323/1518	108/505	G/E	gGa/gAa		1		-1	ZNF649	HGNC	HGNC:25741	protein_coding	YES	CCDS12843.1	ENSP00000347043	Q9BS31		UPI000006D442	NM_023074.3	tolerated(0.28)		5/5		hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF34																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	51891813	51891813	C	T	1	0	0	0	0	1	0	0	0	18637	855	30	3		3	ZNF649	19	51891813	Missense_Mutation	SNP	C	C3N-00294_TP	392186	51891813	6725803	1183	14685											
TSEN34	0	.	GRCh38	chr19	54191364	54191364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcccggctcccgcaggagGatgctggtggtggaggtggc	4	7	18	12	2	0	0	0	0	0	0	2	3	2	3	3	8	1	3	3	8	0	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.9G>T	p.Arg3Ser	p.R3S	ENST00000429671	2/6	243	195	48	189	189	0	strelka-varscan-mutect	TSEN34,missense_variant,p.Arg3Ser,ENST00000429671,NM_001282333.1;TSEN34,missense_variant,p.Arg3Ser,ENST00000456872,;TSEN34,5_prime_UTR_variant,,ENST00000302937,NM_024075.4;TSEN34,5_prime_UTR_variant,,ENST00000396383,NM_001282332.1;TSEN34,5_prime_UTR_variant,,ENST00000396388,NM_001077446.3;TSEN34,5_prime_UTR_variant,,ENST00000455798,;MBOAT7,upstream_gene_variant,,ENST00000245615,NM_024298.4;MBOAT7,upstream_gene_variant,,ENST00000431666,NM_001146083.2;MBOAT7,upstream_gene_variant,,ENST00000338624,NM_001146056.2;MBOAT7,upstream_gene_variant,,ENST00000391754,NM_001146082.2;MBOAT7,upstream_gene_variant,,ENST00000414665,;MBOAT7,upstream_gene_variant,,ENST00000449249,;MBOAT7,upstream_gene_variant,,ENST00000453320,;MBOAT7,upstream_gene_variant,,ENST00000474910,;MBOAT7,upstream_gene_variant,,ENST00000495968,;TSEN34,non_coding_transcript_exon_variant,,ENST00000496583,;MBOAT7,upstream_gene_variant,,ENST00000437868,;MBOAT7,upstream_gene_variant,,ENST00000491216,;MBOAT7,upstream_gene_variant,,ENST00000464098,;	T	ENST00000429671	Transcript	missense_variant	108/1912	9/948	3/315	R/S	agG/agT		1		1	TSEN34	HGNC	HGNC:15506	protein_coding	YES	CCDS74446.1	ENSP00000397402		E7EQB3	UPI000387D582	NM_001282333.1	tolerated_low_confidence(0.19)		2/6		hmmpanther:PTHR13070,PIRSF_domain:PIRSF017250																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	46	54191364	54191364	G	T	1	0	0	0	0	1	0	0	0	17119	1188	41	2		2	TSEN34	19	54191364	Missense_Mutation	SNP	G	C3N-00294_TP	2299551	54191364	4426252	1184	14686											
TSEN34	0	.	GRCh38	chr19	54191530	54191530	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctgctgctgatgcccgaaGaggcgcggctcttggccgag	5	7	16	13	5	1	2	0	1	1	1	1	4	1	2	2	3	3	4	2	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.175G>C	p.Glu59Gln	p.E59Q	ENST00000429671	2/6	236	195	41	205	205	0	strelka-varscan-mutect	TSEN34,missense_variant,p.Glu56Gln,ENST00000302937,NM_024075.4;TSEN34,missense_variant,p.Glu59Gln,ENST00000429671,NM_001282333.1;TSEN34,missense_variant,p.Glu56Gln,ENST00000396383,NM_001282332.1;TSEN34,missense_variant,p.Glu56Gln,ENST00000396388,NM_001077446.3;TSEN34,missense_variant,p.Glu56Gln,ENST00000455798,;TSEN34,missense_variant,p.Glu59Gln,ENST00000456872,;MBOAT7,upstream_gene_variant,,ENST00000245615,NM_024298.4;MBOAT7,upstream_gene_variant,,ENST00000431666,NM_001146083.2;MBOAT7,upstream_gene_variant,,ENST00000338624,NM_001146056.2;MBOAT7,upstream_gene_variant,,ENST00000391754,NM_001146082.2;MBOAT7,upstream_gene_variant,,ENST00000414665,;MBOAT7,upstream_gene_variant,,ENST00000449249,;MBOAT7,upstream_gene_variant,,ENST00000453320,;MBOAT7,upstream_gene_variant,,ENST00000474910,;MBOAT7,upstream_gene_variant,,ENST00000495968,;TSEN34,non_coding_transcript_exon_variant,,ENST00000496583,;MBOAT7,upstream_gene_variant,,ENST00000437868,;MBOAT7,upstream_gene_variant,,ENST00000491216,;MBOAT7,upstream_gene_variant,,ENST00000464098,;	C	ENST00000429671	Transcript	missense_variant	274/1912	175/948	59/315	E/Q	Gag/Cag		1		1	TSEN34	HGNC	HGNC:15506	protein_coding	YES	CCDS74446.1	ENSP00000397402		E7EQB3	UPI000387D582	NM_001282333.1	deleterious(0)		2/6		hmmpanther:PTHR13070,PIRSF_domain:PIRSF017250																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	46	54191530	54191530	G	C	1	0	0	0	0	1	0	0	0	17119	943	33	4		4	TSEN34	19	54191530	Missense_Mutation	SNP	G	C3N-00294_TP	166	54191530	4426086	1185	14687											
LENG9	0	.	GRCh38	chr19	54463188	54463188	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	actgccagcacgcccggcccGagcgccgccagcggctggtc	5	3	14	19	6	0	0	0	0	0	0	1	1	0	0	5	3	4	2	5	3	0	0	rs201329900		C3N-00294_TP	C3N-00294_NB	G	G																c.339C>G	p.=	p.L113L	ENST00000611161	1/1	103	83	20	89	89	0	strelka-varscan-mutect	LENG9,synonymous_variant,p.=,ENST00000611161,NM_001301782.1;LENG8,downstream_gene_variant,,ENST00000610347,;LENG8,downstream_gene_variant,,ENST00000376514,;LENG8,downstream_gene_variant,,ENST00000326764,NM_052925.3;LENG8,downstream_gene_variant,,ENST00000616932,;CDC42EP5,downstream_gene_variant,,ENST00000301200,NM_145057.3;LENG8,downstream_gene_variant,,ENST00000421200,;	C	ENST00000611161	Transcript	synonymous_variant	524/1916	339/1437	113/478	L	ctC/ctG	rs201329900	1		-1	LENG9	HGNC	HGNC:16306	protein_coding	YES	CCDS77358.1	ENSP00000479355		A0A087WVD1	UPI000165DD07	NM_001301782.1			1/1		hmmpanther:PTHR21495,hmmpanther:PTHR21495:SF55,Pfam_domain:PF04457																	LOW		SNV				1										PASS		rs201329900	.												C	2	2	46	54463188	54463188	G	C	1	0	0	0	0	0	0	0	1	8633	1045	37	4		4	LENG9	19	54463188	Silent	SNP	G	C3N-00294_TP	271658	54463188	4154428	1186	14688											
SYT5	0	.	GRCh38	chr19	55174547	55174547	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacagggcacctcgaagctGaaagcttcgttgtaataggg	11	9	12	9	2	1	1	1	1	0	0	3	2	1	1	1	2	2	5	1	2	4	4			C3N-00294_TP	C3N-00294_NB	G	G																c.930C>T	p.=	p.F310F	ENST00000354308	8/9	88	65	23	85	85	0	strelka-varscan-mutect	SYT5,synonymous_variant,p.=,ENST00000354308,NM_003180.2;SYT5,synonymous_variant,p.=,ENST00000590851,NM_001297774.1;SYT5,synonymous_variant,p.=,ENST00000537500,;SYT5,synonymous_variant,p.=,ENST00000590859,;SYT5,synonymous_variant,p.=,ENST00000587067,;SYT5,downstream_gene_variant,,ENST00000592470,;SYT5,downstream_gene_variant,,ENST00000589172,;CTD-2587H24.5,intron_variant,,ENST00000591665,;SYT5,upstream_gene_variant,,ENST00000592935,;SYT5,non_coding_transcript_exon_variant,,ENST00000588305,;SYT5,non_coding_transcript_exon_variant,,ENST00000592956,;SYT5,downstream_gene_variant,,ENST00000585461,;	A	ENST00000354308	Transcript	synonymous_variant	1300/3792	930/1161	310/386	F	ttC/ttT	COSM714667	1		-1	SYT5	HGNC	HGNC:11513	protein_coding	YES	CCDS12919.1	ENSP00000346265	O00445	A0A024R4N8	UPI000013C56F	NM_003180.2			8/9		PROSITE_profiles:PS50004,hmmpanther:PTHR10024:SF227,hmmpanther:PTHR10024,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	46	55174547	55174547	G	A	1	0	0	0	0	0	0	0	1	15871	1281	45	3		3	SYT5	19	55174547	Silent	SNP	G	C3N-00294_TP	711359	55174547	3443069	1187	14689											
NLRP9	0	.	GRCh38	chr19	55711840	55711840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccgggtggctcaatgcctCacacagcaccaccactgcat	9	7	9	16	1	2	0	2	0	0	0	3	0	3	0	4	2	3	3	4	2	1	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2803G>A	p.Glu935Lys	p.E935K	ENST00000332836	8/9	132	103	29	117	117	0	strelka-varscan-mutect	NLRP9,missense_variant,p.Glu935Lys,ENST00000332836,NM_176820.3;NLRP9,missense_variant,p.Glu935Lys,ENST00000590200,;EPN1,downstream_gene_variant,,ENST00000270460,NM_001130072.1;EPN1,downstream_gene_variant,,ENST00000589704,;CTD-2611O12.6,downstream_gene_variant,,ENST00000597650,;	T	ENST00000332836	Transcript	missense_variant	2831/3484	2803/2976	935/991	E/K	Gag/Aag		1		-1	NLRP9	HGNC	HGNC:22941	protein_coding	YES	CCDS12934.1	ENSP00000331857	Q7RTR0		UPI00001B6B39	NM_176820.3	tolerated(0.05)		8/9		hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	55711840	55711840	C	T	1	0	0	0	0	1	0	0	0	10522	835	29	3		3	NLRP9	19	55711840	Missense_Mutation	SNP	C	C3N-00294_TP	537293	55711840	2905776	1188	14690											
ZNF418	0	.	GRCh38	chr19	57927300	57927300	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgcccttatgactaaaaGatttcccacattctccacat	11	12	5	13	0	1	2	0	1	1	1	3	2	2	2	3	1	1	1	3	1	3	4			C3N-00294_TP	C3N-00294_NB	G	G																c.881C>G	p.Ser294Cys	p.S294C	ENST00000396147	4/6	143	122	21	156	156	0	strelka-varscan-mutect	ZNF418,missense_variant,p.Ser294Cys,ENST00000396147,NM_001317028.1,NM_133460.1;ZNF418,missense_variant,p.Ser315Cys,ENST00000425570,;ZNF418,missense_variant,p.Ser294Cys,ENST00000595830,NM_001317029.1,NM_001317030.1;ZNF418,missense_variant,p.Ser209Cys,ENST00000599852,;ZNF418,missense_variant,p.Ser294Cys,ENST00000616958,;ZNF418,intron_variant,,ENST00000600989,;ZNF418,downstream_gene_variant,,ENST00000595569,;ZNF418,downstream_gene_variant,,ENST00000593296,;ZNF418,downstream_gene_variant,,ENST00000601593,;ZNF418,intron_variant,,ENST00000598213,;ZNF418,upstream_gene_variant,,ENST00000599086,;	C	ENST00000396147	Transcript	missense_variant	1173/3694	881/2031	294/676	S/C	tCt/tGt	COSM3540578	1		-1	ZNF418	HGNC	HGNC:20647	protein_coding	YES	CCDS42642.1	ENSP00000379451	Q8TF45		UPI000013B4C8	NM_001317028.1,NM_133460.1	deleterious(0.05)		4/6		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	46	57927300	57927300	G	C	1	0	0	0	0	1	0	0	0	18467	942	33	4		4	ZNF418	19	57927300	Missense_Mutation	SNP	G	C3N-00294_TP	2215460	57927300	690316	1189	14691											
TRIM28	0	.	GRCh38	chr19	58549982	58549982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactgctggccctattctgtCacgaaccctgccgccccctg	5	10	8	18	2	2	0	1	0	1	0	2	1	2	0	5	1	4	1	5	1	3	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.2140C>T	p.His714Tyr	p.H714Y	ENST00000253024	15/17	339	261	78	320	320	0	strelka-varscan-mutect	TRIM28,missense_variant,p.His714Tyr,ENST00000253024,NM_005762.2;TRIM28,missense_variant,p.His632Tyr,ENST00000341753,;TRIM28,missense_variant,p.His339Tyr,ENST00000597136,;CHMP2A,downstream_gene_variant,,ENST00000600118,;CHMP2A,downstream_gene_variant,,ENST00000312547,NM_014453.3;CHMP2A,downstream_gene_variant,,ENST00000601220,NM_198426.2;TRIM28,downstream_gene_variant,,ENST00000594806,;CHMP2A,downstream_gene_variant,,ENST00000600006,;CHMP2A,downstream_gene_variant,,ENST00000596708,;TRIM28,downstream_gene_variant,,ENST00000593582,;CHMP2A,downstream_gene_variant,,ENST00000597848,;TRIM28,downstream_gene_variant,,ENST00000597968,;MIR6807,upstream_gene_variant,,ENST00000621968,;TRIM28,non_coding_transcript_exon_variant,,ENST00000598355,;TRIM28,non_coding_transcript_exon_variant,,ENST00000595974,;TRIM28,non_coding_transcript_exon_variant,,ENST00000600840,;TRIM28,downstream_gene_variant,,ENST00000601150,;TRIM28,downstream_gene_variant,,ENST00000597423,;TRIM28,downstream_gene_variant,,ENST00000597995,;CHMP2A,downstream_gene_variant,,ENST00000597209,;TRIM28,downstream_gene_variant,,ENST00000597618,;CHMP2A,downstream_gene_variant,,ENST00000600804,;TRIM28,downstream_gene_variant,,ENST00000597172,;TRIM28,downstream_gene_variant,,ENST00000595028,;	T	ENST00000253024	Transcript	missense_variant	2429/2960	2140/2508	714/835	H/Y	Cac/Tac		1		1	TRIM28	HGNC	HGNC:16384	protein_coding	YES	CCDS12985.1	ENSP00000253024	Q13263		UPI0000136C15	NM_005762.2	deleterious(0.01)		15/17		Gene3D:1.20.920.10,SMART_domains:SM00297																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	58549982	58549982	C	T	1	0	0	0	0	1	0	0	0	16991	826	29	3		3	TRIM28	19	58549982	Missense_Mutation	SNP	C	C3N-00294_TP	622682	58549982	67634	1190	14692											
MZF1	0	.	GRCh38	chr19	58563411	58563411	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggtgattggatctggccaGaaaggccagccatgccgagg	10	6	16	9	1	1	2	0	1	1	1	1	4	1	3	4	5	2	0	4	5	1	1	rs371153551		C3N-00294_TP	C3N-00294_NB	G	G																c.866C>G	p.Ser289Cys	p.S289C	ENST00000215057	6/6	155	127	28	145	145	0	strelka-varscan-mutect	MZF1,missense_variant,p.Ser289Cys,ENST00000215057,NM_198055.1;MZF1,missense_variant,p.Ser289Cys,ENST00000599369,NM_003422.2;MZF1,intron_variant,,ENST00000594234,NM_001267033.1;UBE2M,upstream_gene_variant,,ENST00000253023,NM_003969.3;UBE2M,upstream_gene_variant,,ENST00000595957,;MZF1-AS1,intron_variant,,ENST00000600534,;MZF1-AS1,intron_variant,,ENST00000593642,;MZF1-AS1,intron_variant,,ENST00000600726,;MZF1,non_coding_transcript_exon_variant,,ENST00000600004,;MZF1,downstream_gene_variant,,ENST00000595245,;	C	ENST00000215057	Transcript	missense_variant	1427/2905	866/2205	289/734	S/C	tCt/tGt	rs371153551	1		-1	MZF1	HGNC	HGNC:13108	protein_coding	YES	CCDS12988.1	ENSP00000215057	P28698	A0A024R4T5	UPI0000072863	NM_198055.1	tolerated(0.14)		6/6																			MODERATE	1	SNV	1			1										PASS		rs371153551	.												C	3	2	46	58563411	58563411	G	C	1	0	0	0	0	1	0	0	0	10109	942	33	4		4	MZF1	19	58563411	Missense_Mutation	SNP	G	C3N-00294_TP	13429	58563411	54205	1191	14693											
C20orf96	0	.	GRCh38	chr20	289622	289622	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctgttggcttgttggactgGaggcagagtagatggcttgg	6	12	18	5	0	0	2	0	0	0	2	0	4	0	4	0	6	0	7	0	6	1	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.124C>G	p.Pro42Ala	p.P42A	ENST00000360321	3/11	261	202	59	297	297	0	strelka-varscan-mutect	C20orf96,missense_variant,p.Pro41Ala,ENST00000400269,NM_080571.1;C20orf96,missense_variant,p.Pro42Ala,ENST00000360321,NM_153269.2;C20orf96,intron_variant,,ENST00000382369,;	C	ENST00000360321	Transcript	missense_variant	263/1575	124/1092	42/363	P/A	Cca/Gca		1		-1	C20orf96	HGNC	HGNC:16227	protein_coding	YES	CCDS12994.1	ENSP00000353470	Q9NUD7		UPI00001285F1	NM_153269.2	deleterious(0.01)		3/11		hmmpanther:PTHR28574:SF1,hmmpanther:PTHR28574																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	289622	289622	G	C	1	0	0	0	0	1	0	0	0	2011	1174	41	4		4	C20orf96	20	289622	Missense_Mutation	SNP	G	C3N-00294_TP		289622	64154545	1192	14694											
IDH3B	0	.	GRCh38	chr20	2663997	2663997	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccccagggttcccggcggaGaccagcgcctgcaacaggga	8	3	15	15	3	0	1	0	0	0	1	1	3	1	2	5	4	3	2	5	4	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.45C>G	p.=	p.V15V	ENST00000380843	2/12	548	448	100	524	524	0	strelka-varscan-mutect	IDH3B,synonymous_variant,p.=,ENST00000380843,NM_006899.3;IDH3B,synonymous_variant,p.=,ENST00000613370,NM_001258384.1;IDH3B,synonymous_variant,p.=,ENST00000474315,;IDH3B,synonymous_variant,p.=,ENST00000380851,NM_174855.2;RP4-686C3.7,upstream_gene_variant,,ENST00000418739,;IDH3B,non_coding_transcript_exon_variant,,ENST00000488299,;IDH3B,non_coding_transcript_exon_variant,,ENST00000462967,;IDH3B,non_coding_transcript_exon_variant,,ENST00000491065,;IDH3B,upstream_gene_variant,,ENST00000492240,;IDH3B,upstream_gene_variant,,ENST00000466494,;IDH3B,upstream_gene_variant,,ENST00000477689,;IDH3B,upstream_gene_variant,,ENST00000466999,;IDH3B,upstream_gene_variant,,ENST00000479376,;	C	ENST00000380843	Transcript	synonymous_variant	76/1545	45/1158	15/385	V	gtC/gtG		1		-1	IDH3B	HGNC	HGNC:5385	protein_coding	YES	CCDS13032.1	ENSP00000370223	O43837		UPI000013CBC6	NM_006899.3			2/12		hmmpanther:PTHR11835,hmmpanther:PTHR11835:SF42																	LOW	1	SNV	1			1										PASS		rs972207839	.												C	2	2	46	2663997	2663997	G	C	1	0	0	0	0	0	0	0	1	7397	929	33	4		4	IDH3B	20	2663997	Silent	SNP	G	C3N-00294_TP	2374375	2663997	61780170	1193	14695											
FASTKD5	0	.	GRCh38	chr20	3148916	3148916	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttcttaacttttttggcaGaatggcagaggctaatgtgt	9	16	11	5	0	1	2	0	0	1	2	1	2	1	2	0	3	1	4	0	3	3	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.155C>G	p.Ser52Cys	p.S52C	ENST00000380266	2/2	240	197	43	252	252	0	strelka-varscan-mutect	FASTKD5,missense_variant,p.Ser52Cys,ENST00000380266,NM_021826.4;UBOX5,intron_variant,,ENST00000217173,NM_001267584.1,NM_014948.3;UBOX5,intron_variant,,ENST00000348031,NM_199415.2;UBOX5,intron_variant,,ENST00000449731,;UBOX5-AS1,intron_variant,,ENST00000446537,;	C	ENST00000380266	Transcript	missense_variant	477/2874	155/2295	52/764	S/C	tCt/tGt		1		-1	FASTKD5	HGNC	HGNC:25790	protein_coding	YES	CCDS13048.1	ENSP00000369618	Q7L8L6		UPI000015F514	NM_021826.4	tolerated(0.09)		2/2		hmmpanther:PTHR21228:SF30,hmmpanther:PTHR21228																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	3148916	3148916	G	C	1	0	0	0	0	1	0	0	0	5548	942	33	4		4	FASTKD5	20	3148916	Missense_Mutation	SNP	G	C3N-00294_TP	484919	3148916	61295251	1194	14696											
ADRA1D	0	.	GRCh38	chr20	4248440	4248440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcacagcacgtccacggcgGcccatacgtcgcagaaggcg	10	3	13	15	6	0	1	0	0	0	1	2	1	1	1	2	3	3	3	2	3	2	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.518C>A	p.Ala173Asp	p.A173D	ENST00000379453	1/2	204	108	96	224	224	0	strelka-varscan-mutect	ADRA1D,missense_variant,p.Ala173Asp,ENST00000379453,NM_000678.3;	T	ENST00000379453	Transcript	missense_variant	635/2728	518/1719	173/572	A/D	gCc/gAc		1		-1	ADRA1D	HGNC	HGNC:280	protein_coding	YES	CCDS13079.1	ENSP00000368766	P25100	B0ZBE0	UPI000003B078	NM_000678.3	deleterious(0)		1/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF14,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	4248440	4248440	G	T	1	0	0	0	0	1	0	0	0	412	1203	42	2		2	ADRA1D	20	4248440	Missense_Mutation	SNP	G	C3N-00294_TP	1099524	4248440	60195727	1195	14697											
PLCB1	0	.	GRCh38	chr20	8789524	8789524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatttgcttttagggagaaGacagagatgatccggtcata	12	12	11	6	1	2	4	2	1	0	3	3	6	3	4	1	2	1	1	1	2	3	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3285G>C	p.Lys1095Asn	p.K1095N	ENST00000338037	30/32	89	76	13	137	137	0	strelka-varscan-mutect	PLCB1,missense_variant,p.Lys1095Asn,ENST00000378641,NM_182734.2;PLCB1,missense_variant,p.Lys1095Asn,ENST00000338037,NM_015192.3;PLCB1,missense_variant,p.Lys1015Asn,ENST00000612075,;PLCB1,missense_variant,p.Lys1015Asn,ENST00000617005,;PLCB1,missense_variant,p.Lys994Asn,ENST00000637919,;PLCB1,missense_variant,p.Lys1095Asn,ENST00000378637,;PLCB1,missense_variant,p.Lys182Asn,ENST00000628239,;PLCB1,upstream_gene_variant,,ENST00000637935,;PLCB1,downstream_gene_variant,,ENST00000625874,;PLCB1,downstream_gene_variant,,ENST00000626966,;PLCB1,upstream_gene_variant,,ENST00000437439,;PLCB1,upstream_gene_variant,,ENST00000637422,;PLCB1,downstream_gene_variant,,ENST00000635830,;PLCB1,downstream_gene_variant,,ENST00000636825,;PLCB1,missense_variant,p.Lys836Asn,ENST00000487210,;PLCB1,missense_variant,p.Lys152Asn,ENST00000635929,;PLCB1,downstream_gene_variant,,ENST00000494924,;	C	ENST00000338037	Transcript	missense_variant	3672/7092	3285/3651	1095/1216	K/N	aaG/aaC		1		1	PLCB1	HGNC	HGNC:15917	protein_coding	YES	CCDS13102.1	ENSP00000338185	Q9NQ66		UPI0000131A8F	NM_015192.3	deleterious(0.03)		30/32		hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,Gene3D:1jadA00,PIRSF_domain:PIRSF000956,Pfam_domain:PF08703,Superfamily_domains:0053448																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	8789524	8789524	G	C	1	0	0	0	0	1	0	0	0	12121	933	33	4		4	PLCB1	20	8789524	Missense_Mutation	SNP	G	C3N-00294_TP	4541084	8789524	55654643	1196	14698											
E2F1	0	.	GRCh38	chr20	33680383	33680383	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgctctcggccaggtactGatggtcagtttccaggtcca	7	11	11	12	1	2	1	1	1	1	0	5	1	4	1	3	4	2	3	3	4	1	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.295C>T	p.Gln99Ter	p.Q99*	ENST00000343380	2/7	146	123	23	160	160	0	strelka-varscan-mutect	E2F1,stop_gained,p.Gln99Ter,ENST00000343380,NM_005225.2;	A	ENST00000343380	Transcript	stop_gained	435/2503	295/1314	99/437	Q/*	Cag/Tag		1		-1	E2F1	HGNC	HGNC:3113	protein_coding	YES	CCDS13224.1	ENSP00000345571	Q01094		UPI000002EDEC	NM_005225.2			2/7		hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF43																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	46	33680383	33680383	G	A	1	0	0	0	0	0	1	0	0	4690	1299	45	3		3	E2F1	20	33680383	Nonsense_Mutation	SNP	G	C3N-00294_TP	24890859	33680383	30763784	1197	14699											
MYH7B	0	.	GRCh38	chr20	34989792	34989792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcatgttccccaaggcctCagacgccagcttccgggcca	8	7	10	16	2	1	1	1	0	0	1	3	1	3	1	6	2	2	3	6	2	1	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1766C>T	p.Ser589Leu	p.S589L	ENST00000262873	18/43	180	142	38	186	186	0	strelka-varscan-mutect	MYH7B,missense_variant,p.Ser589Leu,ENST00000262873,NM_020884.4;MYH7B,missense_variant,p.Ser588Leu,ENST00000618182,;MIR499A,upstream_gene_variant,,ENST00000384903,;MIR499B,downstream_gene_variant,,ENST00000636498,;	T	ENST00000262873	Transcript	missense_variant	1858/6293	1766/5952	589/1983	S/L	tCa/tTa		1		1	MYH7B	HGNC	HGNC:15906	protein_coding	YES	CCDS42869.1	ENSP00000262873	A7E2Y1		UPI000046D367	NM_020884.4	deleterious(0)		18/43		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF358,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	34989792	34989792	C	T	1	0	0	0	0	1	0	0	0	10040	838	29	3		3	MYH7B	20	34989792	Missense_Mutation	SNP	C	C3N-00294_TP	1309409	34989792	29454375	1198	14700											
TRPC4AP	0	.	GRCh38	chr20	35044589	35044589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagcgtgtgcttgtcatCattccctgtatccatctctg	8	14	8	11	1	3	1	2	0	1	1	6	1	5	1	2	0	2	2	2	0	3	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.781G>A	p.Asp261Asn	p.D261N	ENST00000252015	7/19	250	198	52	295	294	1	strelka-varscan-mutect	TRPC4AP,missense_variant,p.Asp261Asn,ENST00000252015,NM_015638.2;TRPC4AP,missense_variant,p.Asp261Asn,ENST00000451813,NM_199368.1;	T	ENST00000252015	Transcript	missense_variant	871/3226	781/2394	261/797	D/N	Gat/Aat		1		-1	TRPC4AP	HGNC	HGNC:16181	protein_coding	YES	CCDS13246.1	ENSP00000252015	Q8TEL6		UPI000004FADD	NM_015638.2	deleterious(0.01)		7/19		hmmpanther:PTHR31743,hmmpanther:PTHR31743:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	35044589	35044589	C	T	1	0	0	0	0	1	0	0	0	17086	826	29	3		3	TRPC4AP	20	35044589	Missense_Mutation	SNP	C	C3N-00294_TP	54797	35044589	29399578	1199	14701											
MMP24	0	.	GRCh38	chr20	35254643	35254643	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggcgacagctccccatttGatggagaagggggattcctg	9	9	14	9	1	0	2	0	1	0	1	2	5	2	3	3	4	1	1	3	4	1	2			C3N-00294_TP	C3N-00294_NB	G	G																c.706G>C	p.Asp236His	p.D236H	ENST00000246186	4/9	282	231	51	324	324	0	strelka-varscan-mutect	MMP24,missense_variant,p.Asp236His,ENST00000246186,NM_006690.3;MMP24-AS1,intron_variant,,ENST00000635104,;MMP24-AS1,intron_variant,,ENST00000566203,;MMP24-AS1,intron_variant,,ENST00000438751,;MMP24-AS1,intron_variant,,ENST00000456350,;MMP24-AS1,intron_variant,,ENST00000433764,;MMP24-AS1,intron_variant,,ENST00000454184,;MMP24-AS1,downstream_gene_variant,,ENST00000453892,;	C	ENST00000246186	Transcript	missense_variant	791/4414	706/1938	236/645	D/H	Gat/Cat	COSM3840845	1		1	MMP24	HGNC	HGNC:7172	protein_coding	YES	CCDS46593.1	ENSP00000246186	Q9Y5R2		UPI000012F259	NM_006690.3	deleterious(0)		4/9		hmmpanther:PTHR10201:SF138,hmmpanther:PTHR10201,Pfam_domain:PF00413,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	46	35254643	35254643	G	C	1	0	0	0	0	1	0	0	0	9624	1290	45	4		4	MMP24	20	35254643	Missense_Mutation	SNP	G	C3N-00294_TP	210054	35254643	29189524	1200	14702											
FAM83C	0	.	GRCh38	chr20	35287700	35287700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggtagagcgaggtaggagGagcgacccataagcggtgac	11	5	17	8	3	0	2	0	1	0	1	0	6	0	4	1	5	3	2	1	5	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1079C>T	p.Ser360Phe	p.S360F	ENST00000374408	4/4	360	278	82	382	382	0	strelka-varscan-mutect	FAM83C,missense_variant,p.Ser360Phe,ENST00000374408,NM_178468.5;EIF6,upstream_gene_variant,,ENST00000374450,NM_002212.3;EIF6,upstream_gene_variant,,ENST00000374436,NM_181468.2;EIF6,upstream_gene_variant,,ENST00000621148,NM_001267810.1;EIF6,upstream_gene_variant,,ENST00000374443,NM_181466.2;EIF6,upstream_gene_variant,,ENST00000456600,;FAM83C-AS1,downstream_gene_variant,,ENST00000429167,;EIF6,upstream_gene_variant,,ENST00000462894,;EIF6,upstream_gene_variant,,ENST00000447927,;EIF6,upstream_gene_variant,,ENST00000440766,;EIF6,upstream_gene_variant,,ENST00000415116,;	A	ENST00000374408	Transcript	missense_variant	1176/3145	1079/2244	360/747	S/F	tCc/tTc		1		-1	FAM83C	HGNC	HGNC:16121	protein_coding	YES	CCDS13251.1	ENSP00000363529	Q9BQN1		UPI0000072DC0	NM_178468.5	deleterious(0)		4/4		hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF3																	MODERATE	1	SNV	1			1										PASS		rs951918774	.												A	3	1	46	35287700	35287700	G	A	1	0	0	0	0	1	0	0	0	5493	1174	41	3		3	FAM83C	20	35287700	Missense_Mutation	SNP	G	C3N-00294_TP	33057	35287700	29156467	1201	14703											
CEP250	0	.	GRCh38	chr20	35494649	35494649	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaaggagctggagagagaGaaagccaggtaggctagata	16	4	16	5	0	0	4	0	0	0	4	0	8	0	6	1	4	2	3	1	4	5	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.3159G>C	p.Glu1053Asp	p.E1053D	ENST00000397527	24/35	115	90	25	123	123	0	strelka-varscan-mutect	CEP250,missense_variant,p.Glu1053Asp,ENST00000397527,NM_007186.4;RP3-477O4.14,upstream_gene_variant,,ENST00000453914,;RP3-477O4.14,upstream_gene_variant,,ENST00000416260,;RP3-477O4.14,upstream_gene_variant,,ENST00000444933,;CEP250,non_coding_transcript_exon_variant,,ENST00000487467,;CEP250,upstream_gene_variant,,ENST00000425525,;	C	ENST00000397527	Transcript	missense_variant	3879/15703	3159/7329	1053/2442	E/D	gaG/gaC		1		1	CEP250	HGNC	HGNC:1859	protein_coding	YES	CCDS13255.1	ENSP00000380661	Q9BV73		UPI000006FE8F	NM_007186.4	tolerated(0.05)		24/35		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159:SF1,hmmpanther:PTHR23159																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	46	35494649	35494649	G	C	1	0	0	0	0	1	0	0	0	2968	933	33	4		4	CEP250	20	35494649	Missense_Mutation	SNP	G	C3N-00294_TP	206949	35494649	28949518	1202	14704											
ZSWIM1	0	.	GRCh38	chr20	45882821	45882821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtctttgaccatttccctGagatcttatttatccaccgg	7	16	7	11	1	2	2	0	2	2	1	4	3	4	2	4	1	0	0	4	1	2	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.229G>A	p.Glu77Lys	p.E77K	ENST00000372523	2/2	255	217	38	305	305	0	strelka-varscan-mutect	ZSWIM1,missense_variant,p.Glu77Lys,ENST00000372523,NM_080603.4;ZSWIM1,missense_variant,p.Glu77Lys,ENST00000372520,;ZSWIM3,downstream_gene_variant,,ENST00000255152,NM_080752.3;SPATA25,downstream_gene_variant,,ENST00000372519,NM_080608.3;	A	ENST00000372523	Transcript	missense_variant	324/2769	229/1458	77/485	E/K	Gag/Aag		1		1	ZSWIM1	HGNC	HGNC:16155	protein_coding	YES	CCDS13382.2	ENSP00000361601	Q9BR11		UPI0000470896	NM_080603.4	tolerated(0.18)		2/2		hmmpanther:PTHR31569,hmmpanther:PTHR31569:SF0																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	46	45882821	45882821	G	A	1	0	0	0	0	1	0	0	0	18841	1291	45	3		3	ZSWIM1	20	45882821	Missense_Mutation	SNP	G	C3N-00294_TP	10388172	45882821	18561346	1203	14705											
ELMO2	0	.	GRCh38	chr20	46374641	46374641	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggctggattgatgtggttCtagagaaataaagacaccca	14	10	11	6	0	1	3	0	1	1	2	1	5	1	4	1	3	0	2	1	3	4	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1066-1G>C		p.X356_splice	ENST00000290246		107	80	27	116	116	0	strelka-varscan-mutect	ELMO2,splice_acceptor_variant,,ENST00000372176,;ELMO2,splice_acceptor_variant,,ENST00000290246,NM_133171.3;ELMO2,splice_acceptor_variant,,ENST00000396391,NM_182764.1;ELMO2,splice_acceptor_variant,,ENST00000352077,;ELMO2,splice_acceptor_variant,,ENST00000425546,;ELMO2,upstream_gene_variant,,ENST00000452857,;ELMO2,downstream_gene_variant,,ENST00000450812,;RP11-394O2.3,intron_variant,,ENST00000612368,;ELMO2,splice_acceptor_variant,,ENST00000488853,;ELMO2,splice_acceptor_variant,,ENST00000462491,;ELMO2,splice_acceptor_variant,,ENST00000481852,;ELMO2,upstream_gene_variant,,ENST00000464448,;ELMO2,splice_acceptor_variant,,ENST00000467800,;	G	ENST00000290246	Transcript	splice_acceptor_variant	-/3669	1066/2163	356/720				1		-1	ELMO2	HGNC	HGNC:17233	protein_coding	YES	CCDS13398.1	ENSP00000290246	Q96JJ3		UPI000013F6C4	NM_133171.3				13/21																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	46	46374641	46374641	C	G	1	0	0	0	0	0	0	1	0	4900	927	32	4		4	ELMO2	20	46374641	Splice_Site	SNP	C	C3N-00294_TP	491820	46374641	18069526	1204	14706											
ZMYND8	0	.	GRCh38	chr20	47276390	47276390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccttcttctcagcatcCtgctccacgtcggagcccgt	4	11	10	16	3	2	0	1	0	2	0	6	1	4	1	4	2	3	2	4	2	0	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1404G>C	p.Gln468His	p.Q468H	ENST00000471951	11/23	59	52	7	84	84	0	strelka-varscan-mutect	ZMYND8,missense_variant,p.Gln448His,ENST00000355972,NM_001281773.2;ZMYND8,missense_variant,p.Gln448His,ENST00000396281,NM_001281772.2;ZMYND8,missense_variant,p.Gln448His,ENST00000446994,;ZMYND8,missense_variant,p.Gln448His,ENST00000311275,;ZMYND8,missense_variant,p.Gln475His,ENST00000536340,;ZMYND8,missense_variant,p.Gln385His,ENST00000372023,NM_001281779.2,NM_001281780.2;ZMYND8,missense_variant,p.Gln448His,ENST00000611941,;ZMYND8,missense_variant,p.Gln443His,ENST00000360911,NM_183048.3,NM_001281778.2;ZMYND8,missense_variant,p.Gln448His,ENST00000262975,NM_001281774.2;ZMYND8,missense_variant,p.Gln468His,ENST00000471951,NM_001281775.2,NM_001281776.2;ZMYND8,missense_variant,p.Gln423His,ENST00000619049,;ZMYND8,missense_variant,p.Gln468His,ENST00000352431,NM_012408.5,NM_001281783.2;ZMYND8,missense_variant,p.Gln443His,ENST00000458360,NM_001281771.2;ZMYND8,missense_variant,p.Gln375His,ENST00000467200,;ZMYND8,missense_variant,p.Gln468His,ENST00000461685,NM_001281777.2,NM_183047.3;ZMYND8,missense_variant,p.Gln443His,ENST00000617418,NM_001281782.2;ZMYND8,missense_variant,p.Gln443His,ENST00000540497,NM_001281781.2,NM_001281784.2;ZMYND8,non_coding_transcript_exon_variant,,ENST00000468376,;	G	ENST00000471951	Transcript	missense_variant	1431/4053	1404/3705	468/1234	Q/H	caG/caC		1		-1	ZMYND8	HGNC	HGNC:9397	protein_coding	YES	CCDS63306.1	ENSP00000420095	Q9ULU4		UPI0000695D9A	NM_001281775.2,NM_001281776.2	deleterious_low_confidence(0)		11/23		Pfam_domain:PF12064,hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF13																	MODERATE	1	SNV	1			1										PASS		rs6090652	.												G	3	3	46	47276390	47276390	C	G	1	0	0	0	0	1	0	0	0	18290	680	24	4		4	ZMYND8	20	47276390	Missense_Mutation	SNP	C	C3N-00294_TP	901749	47276390	17167777	1205	14707											
SULF2	0	.	GRCh38	chr20	47736751	47736751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacggcaaaggtgcggctctCgtgctgtgcctgccaggagg	6	7	16	12	3	1	0	0	0	1	0	2	1	1	1	2	5	4	3	2	5	1	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.367G>A	p.Glu123Lys	p.E123K	ENST00000359930	3/21	393	301	92	393	393	0	strelka-varscan-mutect	SULF2,missense_variant,p.Glu123Lys,ENST00000359930,NM_018837.3;SULF2,missense_variant,p.Glu123Lys,ENST00000484875,NM_001161841.1;SULF2,missense_variant,p.Glu123Lys,ENST00000467815,NM_198596.2;SULF2,missense_variant,p.Glu123Lys,ENST00000437955,;SULF2,non_coding_transcript_exon_variant,,ENST00000478766,;SULF2,intron_variant,,ENST00000474450,;SULF2,non_coding_transcript_exon_variant,,ENST00000463221,;	T	ENST00000359930	Transcript	missense_variant	1219/4915	367/2613	123/870	E/K	Gag/Aag		1		-1	SULF2	HGNC	HGNC:20392	protein_coding	YES	CCDS13408.1	ENSP00000353007	Q8IWU5		UPI000003FFBA	NM_018837.3	deleterious(0)		3/21		hmmpanther:PTHR10342:SF67,hmmpanther:PTHR10342,Pfam_domain:PF00884,Gene3D:3.40.720.10,PIRSF_domain:PIRSF036665,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	47736751	47736751	C	T	1	0	0	0	0	1	0	0	0	15759	893	31	1		1	SULF2	20	47736751	Missense_Mutation	SNP	C	C3N-00294_TP	460361	47736751	16707416	1206	14708											
DPM1	0	.	GRCh38	chr20	50958456	50958456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccgaatatttgttctgtCgtggactgcgcacttccagc	7	12	10	12	3	1	0	0	0	1	0	3	2	2	1	2	1	2	3	2	1	2	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.68G>A	p.Arg23Gln	p.R23Q	ENST00000371588	1/9	431	330	101	488	486	2	strelka-varscan-mutect	DPM1,missense_variant,p.Arg23Gln,ENST00000371582,NM_001317035.1;DPM1,missense_variant,p.Arg23Gln,ENST00000371588,NM_003859.1;DPM1,missense_variant,p.Arg23Gln,ENST00000371584,;DPM1,missense_variant,p.Arg23Gln,ENST00000413082,;MOCS3,upstream_gene_variant,,ENST00000244051,NM_014484.4;DPM1,non_coding_transcript_exon_variant,,ENST00000466152,;	T	ENST00000371588	Transcript	missense_variant	95/1075	68/783	23/260	R/Q	cGa/cAa		1		-1	DPM1	HGNC	HGNC:3005	protein_coding	YES	CCDS13434.1	ENSP00000360644	O60762	A0A0S2Z4Y5	UPI0000129751	NM_003859.1	tolerated(0.54)		1/9		hmmpanther:PTHR10859,Low_complexity_(Seg):seg,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	50958456	50958456	C	T	1	0	0	0	0	1	0	0	0	4539	884	31	1		1	DPM1	20	50958456	Missense_Mutation	SNP	C	C3N-00294_TP	3221705	50958456	13485711	1207	14709											
BCAS1	0	.	GRCh38	chr20	53953590	53953590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcttctgcttgttcatctCggctgctgacttcttgtcct	2	18	8	13	1	5	1	1	1	4	0	7	1	6	1	1	1	2	5	1	1	0	5	rs193016127		C3N-00294_TP	C3N-00294_NB	C	C																c.1522G>A	p.Glu508Lys	p.E508K	ENST00000395961	11/12	409	330	79	474	473	1	strelka-varscan-mutect	BCAS1,missense_variant,p.Glu379Lys,ENST00000448484,;BCAS1,missense_variant,p.Glu508Lys,ENST00000395961,NM_003657.2;BCAS1,missense_variant,p.Glu430Lys,ENST00000371435,NM_001316361.2,NM_001323347.1;BCAS1,missense_variant,p.Glu171Lys,ENST00000422805,;	T	ENST00000395961	Transcript	missense_variant	1689/3303	1522/1755	508/584	E/K	Gag/Aag	rs193016127	1		-1	BCAS1	HGNC	HGNC:974	protein_coding	YES	CCDS13444.1	ENSP00000379290	O75363		UPI000013D2E2	NM_003657.2	deleterious(0)		11/12		Low_complexity_(Seg):seg,hmmpanther:PTHR15016																	MODERATE	1	SNV	1			1										PASS		rs193016127	.												T	3	4	46	53953590	53953590	C	T	1	0	0	0	0	1	0	0	0	1497	893	31	1		1	BCAS1	20	53953590	Missense_Mutation	SNP	C	C3N-00294_TP	2995134	53953590	10490577	1208	14710											
SPO11	0	.	GRCh38	chr20	57329988	57329988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaactgggggaagccgcCtggcctccaggtacaggagc	8	4	14	15	1	0	0	0	0	0	0	1	2	1	2	6	5	4	1	6	5	3	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.121C>A	p.Leu41Met	p.L41M	ENST00000371263	1/13	66	43	23	76	76	0	strelka-varscan-mutect	SPO11,missense_variant,p.Leu41Met,ENST00000371263,NM_012444.2;SPO11,missense_variant,p.Leu41Met,ENST00000345868,NM_198265.1;SPO11,missense_variant,p.Leu41Met,ENST00000371260,;SPO11,missense_variant,p.Leu19Met,ENST00000418127,;SPO11,upstream_gene_variant,,ENST00000494972,;RP3-481F12.1,downstream_gene_variant,,ENST00000455840,;	A	ENST00000371263	Transcript	missense_variant	230/1834	121/1191	41/396	L/M	Ctg/Atg		1		1	SPO11	HGNC	HGNC:11250	protein_coding	YES	CCDS13456.1	ENSP00000360310	Q9Y5K1		UPI0000135E5E	NM_012444.2	tolerated_low_confidence(0.11)		1/13		hmmpanther:PTHR10848,Pfam_domain:PF03533,Prints_domain:PR01551																	MODERATE	1	SNV	1			1										PASS		rs1453709024	.												A	3	1	46	57329988	57329988	C	A	1	0	0	0	0	1	0	0	0	15430	680	24	2		2	SPO11	20	57329988	Missense_Mutation	SNP	C	C3N-00294_TP	3376398	57329988	7114179	1209	14711											
CTCFL	0	.	GRCh38	chr20	57524177	57524177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatcttggtgaattgctcaGaaaggacagagatctcagtg	12	11	12	6	0	3	4	2	2	2	2	4	6	3	5	0	2	1	1	0	2	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.29C>G	p.Ser10Cys	p.S10C	ENST00000423479	2/12	88	74	14	104	104	0	strelka-varscan-mutect	CTCFL,missense_variant,p.Ser10Cys,ENST00000608263,NM_001269041.1;CTCFL,missense_variant,p.Ser10Cys,ENST00000429804,NM_001269046.1;CTCFL,missense_variant,p.Ser10Cys,ENST00000609232,NM_080618.3;CTCFL,missense_variant,p.Ser10Cys,ENST00000243914,;CTCFL,missense_variant,p.Ser10Cys,ENST00000371196,NM_001269042.1,NM_001269040.1;CTCFL,missense_variant,p.Ser10Cys,ENST00000422869,NM_001269047.1;CTCFL,missense_variant,p.Ser10Cys,ENST00000432255,NM_001269048.1;CTCFL,missense_variant,p.Ser10Cys,ENST00000608425,NM_001269045.1;CTCFL,missense_variant,p.Ser10Cys,ENST00000608440,NM_001269044.1;CTCFL,missense_variant,p.Ser10Cys,ENST00000423479,NM_001269043.1;CTCFL,missense_variant,p.Ser10Cys,ENST00000608158,NM_001269052.1;CTCFL,missense_variant,p.Ser10Cys,ENST00000481655,NM_001269051.1;CTCFL,intron_variant,,ENST00000539382,NM_001269050.1;CTCFL,intron_variant,,ENST00000433949,NM_001269049.1;CTCFL,intron_variant,,ENST00000608903,NM_001269055.1;CTCFL,intron_variant,,ENST00000502686,NM_001269054.1;CTCFL,intron_variant,,ENST00000608858,;CTCFL,missense_variant,p.Ser10Cys,ENST00000426658,;CTCFL,missense_variant,p.Ser10Cys,ENST00000422109,;CTCFL,missense_variant,p.Ser10Cys,ENST00000608720,;CTCFL,non_coding_transcript_exon_variant,,ENST00000607923,;CTCFL,intron_variant,,ENST00000608108,;	C	ENST00000423479	Transcript	missense_variant	120/2478	29/2103	10/700	S/C	tCt/tGt		1		-1	CTCFL	HGNC	HGNC:16234	protein_coding	YES	CCDS58780.1	ENSP00000415579	Q8NI51		UPI000157860F	NM_001269043.1	deleterious(0.01)		2/12																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	57524177	57524177	G	C	1	0	0	0	0	1	0	0	0	3808	942	33	4		4	CTCFL	20	57524177	Missense_Mutation	SNP	G	C3N-00294_TP	194189	57524177	6919990	1210	14712											
PCK1	0	.	GRCh38	chr20	57565065	57565065	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctagtctatgaagctctCagctggcaacatggagtctt	9	12	9	11	0	4	1	1	1	4	0	5	2	4	2	1	2	3	3	1	2	4	3			C3N-00294_TP	C3N-00294_NB	C	C																c.1344C>T	p.=	p.L448L	ENST00000319441	9/10	152	133	19	141	140	1	strelka-varscan-mutect	PCK1,synonymous_variant,p.=,ENST00000319441,NM_002591.3;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,non_coding_transcript_exon_variant,,ENST00000485958,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,downstream_gene_variant,,ENST00000498194,;PCK1,downstream_gene_variant,,ENST00000470051,;	T	ENST00000319441	Transcript	synonymous_variant	1508/4341	1344/1869	448/622	L	ctC/ctT	COSM3548158	1		1	PCK1	HGNC	HGNC:8724	protein_coding	YES	CCDS13460.1	ENSP00000319814	P35558		UPI000013CB5A	NM_002591.3			9/10		HAMAP:MF_00452,hmmpanther:PTHR11561:SF1,hmmpanther:PTHR11561,Pfam_domain:PF00821,Gene3D:3.90.228.20,PIRSF_domain:PIRSF001348,Superfamily_domains:SSF53795											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	46	57565065	57565065	C	T	1	0	0	0	0	0	0	0	1	11669	813	29	3		3	PCK1	20	57565065	Silent	SNP	C	C3N-00294_TP	40888	57565065	6879102	1211	14713											
PCK1	0	.	GRCh38	chr20	57565591	57565591	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaaagccagcaccaagctCacgcccataggctacatccc	13	4	8	16	1	1	0	1	0	0	0	2	1	2	1	4	2	4	3	4	2	5	2			C3N-00294_TP	C3N-00294_NB	C	C																c.1656C>G	p.=	p.L552L	ENST00000319441	10/10	278	210	68	300	300	0	strelka-varscan-mutect	PCK1,synonymous_variant,p.=,ENST00000319441,NM_002591.3;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,downstream_gene_variant,,ENST00000498194,;PCK1,downstream_gene_variant,,ENST00000485958,;PCK1,downstream_gene_variant,,ENST00000470051,;	G	ENST00000319441	Transcript	synonymous_variant	1820/4341	1656/1869	552/622	L	ctC/ctG	COSM3379096,COSM3548164	1		1	PCK1	HGNC	HGNC:8724	protein_coding	YES	CCDS13460.1	ENSP00000319814	P35558		UPI000013CB5A	NM_002591.3			10/10		HAMAP:MF_00452,hmmpanther:PTHR11561:SF1,hmmpanther:PTHR11561,Pfam_domain:PF00821,Gene3D:3.90.228.20,PIRSF_domain:PIRSF001348,Superfamily_domains:SSF53795											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												G	2	3	46	57565591	57565591	C	G	1	0	0	0	0	0	0	0	1	11669	813	29	4		4	PCK1	20	57565591	Silent	SNP	C	C3N-00294_TP	526	57565591	6878576	1212	14714											
HRH3	0	.	GRCh38	chr20	62216687	62216687	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatgttcaggtagatgctGaggttaaagaaggtgacgct	11	11	15	4	1	1	4	1	2	0	2	1	5	1	5	0	4	1	5	0	4	4	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.657C>T	p.=	p.L219L	ENST00000340177	3/3	279	234	45	292	292	0	strelka-varscan-mutect	HRH3,synonymous_variant,p.=,ENST00000340177,NM_007232.2;HRH3,synonymous_variant,p.=,ENST00000317393,;HRH3,intron_variant,,ENST00000611492,;	A	ENST00000340177	Transcript	synonymous_variant	942/2659	657/1338	219/445	L	ctC/ctT		1		-1	HRH3	HGNC	HGNC:5184	protein_coding	YES	CCDS13493.1	ENSP00000342560	Q9Y5N1		UPI000012C6ED	NM_007232.2			3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF292,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	62216687	62216687	G	A	1	0	0	0	0	0	0	0	1	7252	1277	45	3		3	HRH3	20	62216687	Silent	SNP	G	C3N-00294_TP	4651096	62216687	2227480	1213	14715											
RPS21	0	.	GRCh38	chr20	62387624	62387624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccacagctccgctagcaatCgcatcatcggtgccaaggac	10	7	9	15	3	1	0	1	0	0	0	5	1	3	1	3	2	3	4	3	2	3	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.64C>G	p.Arg22Gly	p.R22G	ENST00000343986	3/6	66	45	21	71	70	1	strelka-varscan-mutect	RPS21,missense_variant,p.Arg22Gly,ENST00000370562,;RPS21,missense_variant,p.Arg22Gly,ENST00000450116,;RPS21,missense_variant,p.Arg22Gly,ENST00000370592,;RPS21,missense_variant,p.Arg22Gly,ENST00000343986,NM_001024.3;CABLES2,downstream_gene_variant,,ENST00000279101,NM_031215.2;CABLES2,downstream_gene_variant,,ENST00000453274,;RP5-908M14.9,upstream_gene_variant,,ENST00000610979,;RPS21,non_coding_transcript_exon_variant,,ENST00000492356,;	G	ENST00000343986	Transcript	missense_variant	103/344	64/252	22/83	R/G	Cgc/Ggc		1		1	RPS21	HGNC	HGNC:10409	protein_coding	YES	CCDS13497.1	ENSP00000345957	P63220	Q6FGH5	UPI0000134E79	NM_001024.3	deleterious(0)		3/6		hmmpanther:PTHR10442,hmmpanther:PTHR10442:SF1,Pfam_domain:PF01249,PIRSF_domain:PIRSF002148																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	62387624	62387624	C	G	1	0	0	0	0	1	0	0	0	13888	884	31	4		4	RPS21	20	62387624	Missense_Mutation	SNP	C	C3N-00294_TP	170937	62387624	2056543	1214	14716											
OGFR	0	.	GRCh38	chr20	62813500	62813500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcccccgcccggcaggaCctgcaggggacgagccagcc	7	1	15	18	3	0	0	0	0	0	0	0	3	0	2	6	5	3	2	6	5	0	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1885C>T	p.Pro629Ser	p.P629S	ENST00000290291	7/7	89	69	20	69	69	0	strelka-varscan-mutect	OGFR,missense_variant,p.Pro577Ser,ENST00000370461,;OGFR,missense_variant,p.Pro629Ser,ENST00000290291,NM_007346.2;OGFR,missense_variant,p.Pro315Ser,ENST00000621591,;COL9A3,upstream_gene_variant,,ENST00000343916,NM_001853.3;COL9A3,upstream_gene_variant,,ENST00000452372,;OGFR,downstream_gene_variant,,ENST00000450048,;COL9A3,upstream_gene_variant,,ENST00000489045,;COL9A3,upstream_gene_variant,,ENST00000477612,;	T	ENST00000290291	Transcript	missense_variant	1910/2410	1885/2034	629/677	P/S	Cct/Tct		1		1	OGFR	HGNC	HGNC:15768	protein_coding	YES	CCDS13504.1	ENSP00000290291	Q9NZT2		UPI000013F107	NM_007346.2	tolerated_low_confidence(0.47)		7/7		Pfam_domain:PF04680																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	62813500	62813500	C	T	1	0	0	0	0	1	0	0	0	10918	521	18	3		3	OGFR	20	62813500	Missense_Mutation	SNP	C	C3N-00294_TP	425876	62813500	1630667	1215	14717											
EVA1C	0	.	GRCh38	chr21	32412982	32412982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactgtcctggtctgctcCaaagagatctcagcgctcac	8	10	9	14	1	3	1	2	0	2	1	6	2	5	1	2	1	3	3	2	1	1	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.129C>T	p.=	p.S43S	ENST00000300255	1/8	69	52	17	66	66	0	strelka-varscan-mutect	EVA1C,synonymous_variant,p.=,ENST00000300255,NM_058187.4;EVA1C,synonymous_variant,p.=,ENST00000382699,NM_001286556.1;EVA1C,synonymous_variant,p.=,ENST00000401402,;EVA1C,non_coding_transcript_exon_variant,,ENST00000481638,;EVA1C,intron_variant,,ENST00000459833,;EVA1C,synonymous_variant,p.=,ENST00000437338,;EVA1C,synonymous_variant,p.=,ENST00000435323,;EVA1C,synonymous_variant,p.=,ENST00000457807,;EVA1C,non_coding_transcript_exon_variant,,ENST00000469079,;	T	ENST00000300255	Transcript	synonymous_variant	602/1998	129/1326	43/441	S	tcC/tcT		1		1	EVA1C	HGNC	HGNC:13239	protein_coding	YES	CCDS13614.1	ENSP00000300255	P58658		UPI00000373F4	NM_058187.4			1/8		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF311																	LOW	1	SNV	1			1										PASS		rs776985836	.												T	2	4	46	32412982	32412982	C	T	1	0	0	0	0	0	0	0	1	5151	581	21	3		3	EVA1C	21	32412982	Silent	SNP	C	C3N-00294_TP		32412982	14297001	1216	14718											
CBR1	0	.	GRCh38	chr21	36072832	36072832	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttttgcccccagatgctGagggtccccatggacaattt	7	11	9	14	0	0	2	0	1	0	1	1	3	1	3	5	2	2	1	5	2	1	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.784G>T	p.Glu262Ter	p.E262*	ENST00000290349	3/3	121	91	30	136	136	0	strelka-varscan-mutect	CBR1,stop_gained,p.Glu262Ter,ENST00000290349,NM_001757.3;CBR1,3_prime_UTR_variant,,ENST00000530908,NM_001286789.1;SETD4,intron_variant,,ENST00000399201,;CBR1,downstream_gene_variant,,ENST00000439427,;CBR1,downstream_gene_variant,,ENST00000399191,;AP000688.14,intron_variant,,ENST00000535199,;AP000688.14,downstream_gene_variant,,ENST00000415147,;CBR1,downstream_gene_variant,,ENST00000466328,;	T	ENST00000290349	Transcript	stop_gained	959/1293	784/834	262/277	E/*	Gag/Tag		1		1	CBR1	HGNC	HGNC:1548	protein_coding	YES	CCDS13641.1	ENSP00000290349	P16152		UPI000004C784	NM_001757.3			3/3		Gene3D:3.40.50.720,Superfamily_domains:SSF51735																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	46	36072832	36072832	G	T	1	0	0	0	0	0	1	0	0	2409	1291	45	2		2	CBR1	21	36072832	Nonsense_Mutation	SNP	G	C3N-00294_TP	3659850	36072832	10637151	1217	14719											
MORC3	0	.	GRCh38	chr21	36360183	36360183	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatgtgatttttctgaataGaaattgtgaggttccagaag	12	15	10	4	0	1	5	0	3	1	2	2	5	2	5	1	1	0	1	1	1	5	6	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1332-1G>C		p.X444_splice	ENST00000400485		106	83	23	137	137	0	strelka-varscan-mutect	MORC3,splice_acceptor_variant,,ENST00000400485,NM_001320446.1,NM_001320445.1,NM_015358.2;AP000692.9,upstream_gene_variant,,ENST00000397184,;MORC3,splice_acceptor_variant,,ENST00000487909,;MORC3,downstream_gene_variant,,ENST00000485299,;MORC3,upstream_gene_variant,,ENST00000484028,;	C	ENST00000400485	Transcript	splice_acceptor_variant	-/4246	1332/2820	444/939				1		1	MORC3	HGNC	HGNC:23572	protein_coding	YES	CCDS42924.1	ENSP00000383333	Q14149		UPI0000167F94	NM_001320446.1,NM_001320445.1,NM_015358.2				11/16																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	46	36360183	36360183	G	C	1	0	0	0	0	0	0	1	0	9667	956	33	4		4	MORC3	21	36360183	Splice_Site	SNP	G	C3N-00294_TP	287351	36360183	10349800	1218	14720											
PDXK	0	.	GRCh38	chr21	43732583	43732583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagaagcagtggagcaGaatattttggcaggattttc	12	10	11	8	0	0	2	0	0	0	2	1	4	0	4	1	3	2	3	1	3	3	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.206G>T	p.Arg69Ile	p.R69I	ENST00000327574	2/4	411	340	71	544	544	0	strelka-varscan-mutect	PDXK,missense_variant,p.Arg69Ile,ENST00000327574,;PDXK,intron_variant,,ENST00000291565,NM_003681.4;PDXK,intron_variant,,ENST00000468090,;PDXK,intron_variant,,ENST00000398081,;PDXK,upstream_gene_variant,,ENST00000621478,;PDXK,intron_variant,,ENST00000476313,;PDXK,intron_variant,,ENST00000498040,;PDXK,intron_variant,,ENST00000398085,;PDXK,intron_variant,,ENST00000470029,;PDXK,intron_variant,,ENST00000472777,;PDXK,upstream_gene_variant,,ENST00000481512,;PDXK,downstream_gene_variant,,ENST00000438837,;	T	ENST00000327574	Transcript	missense_variant	556/2583	206/447	69/148	R/I	aGa/aTa		1		1	PDXK	HGNC	HGNC:8819	protein_coding			ENSP00000333624		A8MT14	UPI0000E5A3F7				2/4																			MODERATE		SNV	2			1										PASS		.	.												T	3	4	46	43732583	43732583	G	T	1	0	0	0	0	1	0	0	0	11785	942	33	2		2	PDXK	21	43732583	Missense_Mutation	SNP	G	C3N-00294_TP	7372400	43732583	2977400	1219	14721											
KRTAP10-1	0	.	GRCh38	chr21	44539890	44539890	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaggtgcagcaagcCggctggcagctagactgctg	8	5	19	9	1	0	1	0	0	0	1	0	3	0	3	1	6	5	6	1	6	2	1	rs781835494		C3N-00294_TP	C3N-00294_NB	C	C																c.261G>A	p.=	p.P87P	ENST00000400375	1/1	653	569	84	726	723	3	varscan-mutect	KRTAP10-1,synonymous_variant,p.=,ENST00000400375,NM_198691.2;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000397916,;	T	ENST00000400375	Transcript	synonymous_variant	306/1215	261/849	87/282	P	ccG/ccA	rs781835494	1		-1	KRTAP10-1	HGNC	HGNC:22966	protein_coding	YES	CCDS42954.1	ENSP00000383226	P60331		UPI00003D4D6C	NM_198691.2			1/1		Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF72,Low_complexity_(Seg):seg																	LOW		SNV				1										PASS		rs781835494	.												T	2	4	46	44539890	44539890	C	T	1	0	0	0	0	0	0	0	1	8388	639	23	1		1	KRTAP10-1	21	44539890	Silent	SNP	C	C3N-00294_TP	807307	44539890	2170093	1220	14722											
TBX1	0	.	GRCh38	chr22	19765053	19765053	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatatgccgaggagaacttCaaaacctttgtgttcgagga	14	10	10	7	2	1	1	1	0	0	1	2	5	1	2	2	2	3	1	2	2	5	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.780C>T	p.=	p.F260F	ENST00000332710	6/9	517	415	102	506	505	1	strelka-varscan-mutect	TBX1,synonymous_variant,p.=,ENST00000332710,NM_080647.1;TBX1,synonymous_variant,p.=,ENST00000359500,NM_005992.1;TBX1,synonymous_variant,p.=,ENST00000329705,NM_080646.1;TBX1,synonymous_variant,p.=,ENST00000621939,;TBX1,downstream_gene_variant,,ENST00000475303,;TBX1,upstream_gene_variant,,ENST00000484336,;	T	ENST00000332710	Transcript	synonymous_variant	909/2084	780/1488	260/495	F	ttC/ttT		1		1	TBX1	HGNC	HGNC:11592	protein_coding	YES	CCDS13767.1	ENSP00000331791	O43435	D9ZGG0	UPI0000073068	NM_080647.1			6/9		PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF104,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	19765053	19765053	C	T	1	0	0	0	0	0	0	0	1	16055	825	29	3		3	TBX1	22	19765053	Silent	SNP	C	C3N-00294_TP		19765053	31053415	1221	14723											
TBX1	0	.	GRCh38	chr22	19765947	19765947	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgccgctcatgagcgccttCgcgcgctcgcggaaccccgt	4	7	12	18	8	1	1	1	1	0	0	3	2	1	2	4	1	3	2	4	1	1	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.954C>T	p.=	p.F318F	ENST00000332710	8/9	184	153	31	140	140	0	strelka-varscan-mutect	TBX1,synonymous_variant,p.=,ENST00000332710,NM_080647.1;TBX1,synonymous_variant,p.=,ENST00000359500,NM_005992.1;TBX1,synonymous_variant,p.=,ENST00000329705,NM_080646.1;TBX1,synonymous_variant,p.=,ENST00000621939,;TBX1,non_coding_transcript_exon_variant,,ENST00000484336,;TBX1,downstream_gene_variant,,ENST00000475303,;	T	ENST00000332710	Transcript	synonymous_variant	1083/2084	954/1488	318/495	F	ttC/ttT		1		1	TBX1	HGNC	HGNC:11592	protein_coding	YES	CCDS13767.1	ENSP00000331791	O43435	D9ZGG0	UPI0000073068	NM_080647.1			8/9		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF104																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	19765947	19765947	C	T	1	0	0	0	0	0	0	0	1	16055	883	31	1		1	TBX1	22	19765947	Silent	SNP	C	C3N-00294_TP	894	19765947	31052521	1222	14724											
BCR	0	.	GRCh38	chr22	23289523	23289523	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccaacctcccaggtttcaGaagcttctccctgacatccg	8	11	6	16	1	2	2	1	1	1	1	6	2	5	2	5	1	2	2	5	1	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2609G>C	p.Arg870Thr	p.R870T	ENST00000305877	13/23	121	99	22	118	118	0	strelka-varscan-mutect	BCR,missense_variant,p.Arg870Thr,ENST00000305877,NM_004327.3;BCR,missense_variant,p.Gln435His,ENST00000398512,;BCR,missense_variant,p.Arg870Thr,ENST00000359540,NM_021574.2;BCR,downstream_gene_variant,,ENST00000427791,;BCR,upstream_gene_variant,,ENST00000419722,;BCR,non_coding_transcript_exon_variant,,ENST00000487968,;BCR,downstream_gene_variant,,ENST00000466076,;	C	ENST00000305877	Transcript	missense_variant	3360/7082	2609/3816	870/1271	R/T	aGa/aCa		1		1	BCR	HGNC	HGNC:1014	protein_coding	YES	CCDS13806.1	ENSP00000303507	P11274		UPI000016A088	NM_004327.3	tolerated(0.09)		13/23		PROSITE_profiles:PS50004,hmmpanther:PTHR23182,hmmpanther:PTHR23182:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	23289523	23289523	G	C	1	0	0	0	0	1	0	0	0	1535	942	33	4		4	BCR	22	23289523	Missense_Mutation	SNP	G	C3N-00294_TP	3523576	23289523	27528945	1223	14725											
MYO18B	0	.	GRCh38	chr22	25772361	25772361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctgagctggaccaggtcGaggacctggcctctctcatc	6	9	11	15	1	2	1	1	1	1	0	6	4	3	3	4	4	1	1	4	4	0	0	rs751222865		C3N-00294_TP	C3N-00294_NB	G	G																c.1720G>A	p.Glu574Lys	p.E574K	ENST00000335473	7/44	103	81	22	135	135	0	strelka-varscan-mutect	MYO18B,missense_variant,p.Glu574Lys,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,missense_variant,p.Glu574Lys,ENST00000407587,;MYO18B,missense_variant,p.Glu574Lys,ENST00000536101,;MYO18B,missense_variant,p.Glu574Lys,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	A	ENST00000335473	Transcript	missense_variant	1970/8565	1720/7704	574/2567	E/K	Gag/Aag	rs751222865,COSM1415321,COSM4530707	1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5	deleterious(0)		7/44		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF372,SMART_domains:SM00242,Superfamily_domains:SSF52540											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs751222865	.												A	3	1	46	25772361	25772361	G	A	1	0	0	0	0	1	0	0	0	10067	1059	37	1		1	MYO18B	22	25772361	Missense_Mutation	SNP	G	C3N-00294_TP	2482838	25772361	25046107	1224	14726											
MYO18B	0	.	GRCh38	chr22	25843855	25843855	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagccaagcccaacctctCggccctggatgcaccccagg	9	4	10	18	1	1	1	0	0	1	1	2	2	1	2	6	3	4	1	6	3	2	0	rs775172877		C3N-00294_TP	C3N-00294_NB	C	C																c.3329C>A	p.Ser1110Ter	p.S1110*	ENST00000335473	18/44	106	79	27	136	136	0	strelka-varscan-mutect	MYO18B,stop_gained,p.Ser1110Ter,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,stop_gained,p.Ser1111Ter,ENST00000407587,;MYO18B,stop_gained,p.Ser1110Ter,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	A	ENST00000335473	Transcript	stop_gained	3579/8565	3329/7704	1110/2567	S/*	tCg/tAg	rs775172877	1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5			18/44		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF372,SMART_domains:SM00242,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		rs775172877	.												A	4	1	46	25843855	25843855	C	A	1	0	0	0	0	0	1	0	0	10067	893	31	1		1	MYO18B	22	25843855	Nonsense_Mutation	SNP	C	C3N-00294_TP	71494	25843855	24974613	1225	14727											
NEFH	0	.	GRCh38	chr22	29481081	29481081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgacgtcggcgctgcgcgaGattcgcgcgcagcttgaagg	6	7	17	11	8	0	3	0	2	0	1	2	4	0	3	0	2	2	3	0	2	1	2			C3N-00294_TP	C3N-00294_NB	G	G																c.819G>C	p.Glu273Asp	p.E273D	ENST00000310624	1/4	423	333	90	508	508	0	strelka-varscan-mutect	NEFH,missense_variant,p.Glu273Asp,ENST00000310624,NM_021076.3;AC000035.3,non_coding_transcript_exon_variant,,ENST00000634116,;RFPL1S,upstream_gene_variant,,ENST00000461286,;RFPL1S,upstream_gene_variant,,ENST00000419368,;	C	ENST00000310624	Transcript	missense_variant	852/3783	819/3063	273/1020	E/D	gaG/gaC	COSM5429609	1		1	NEFH	HGNC	HGNC:7737	protein_coding	YES	CCDS13858.1	ENSP00000311997	P12036		UPI00001AEF71	NM_021076.3	tolerated(0.25)		1/4		hmmpanther:PTHR23214,hmmpanther:PTHR23214:SF1,Pfam_domain:PF00038,SMART_domains:SM01391											1						MODERATE	1	SNV	1		1	1										PASS		rs917756240	.												C	3	2	46	29481081	29481081	G	C	1	0	0	0	0	1	0	0	0	10342	933	33	4		4	NEFH	22	29481081	Missense_Mutation	SNP	G	C3N-00294_TP	3637226	29481081	21337387	1226	14728											
GATSL3	0	.	GRCh38	chr22	30286286	30286286	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgtgtttcagcatccatGacaatggagatataaccctc	11	13	7	10	0	2	2	1	1	1	1	4	3	3	2	2	1	2	2	2	1	3	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.720C>G	p.=	p.V240V	ENST00000407689	6/9	100	84	16	100	100	0	strelka-varscan-mutect	GATSL3,synonymous_variant,p.=,ENST00000407689,NM_001037666.2;RP1-130H16.18,intron_variant,,ENST00000434291,;GATSL3,intron_variant,,ENST00000404953,;GATSL3,intron_variant,,ENST00000459785,;GATSL3,downstream_gene_variant,,ENST00000498572,;GATSL3,downstream_gene_variant,,ENST00000464854,;RP1-130H16.18,3_prime_UTR_variant,,ENST00000330168,;RP1-130H16.18,3_prime_UTR_variant,,ENST00000447976,;GATSL3,3_prime_UTR_variant,,ENST00000421236,;GATSL3,non_coding_transcript_exon_variant,,ENST00000497605,;RP1-130H16.18,intron_variant,,ENST00000434987,;RP1-130H16.18,intron_variant,,ENST00000418047,;GATSL3,intron_variant,,ENST00000440839,;GATSL3,downstream_gene_variant,,ENST00000471480,;GATSL3,downstream_gene_variant,,ENST00000463795,;GATSL3,downstream_gene_variant,,ENST00000425691,;GATSL3,downstream_gene_variant,,ENST00000415484,;GATSL3,downstream_gene_variant,,ENST00000492159,;GATSL3,downstream_gene_variant,,ENST00000440704,;	C	ENST00000407689	Transcript	synonymous_variant	850/1623	720/990	240/329	V	gtC/gtG		1		-1	GATSL3	HGNC	HGNC:34423	protein_coding	YES	CCDS43001.1	ENSP00000384183	Q8WTX7		UPI0000071943	NM_001037666.2			6/9		hmmpanther:PTHR31131,hmmpanther:PTHR31131:SF3,Gene3D:1zvpA00																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	46	30286286	30286286	G	C	1	0	0	0	0	0	0	0	1	6137	1277	45	4		4	GATSL3	22	30286286	Silent	SNP	G	C3N-00294_TP	805205	30286286	20532182	1227	14729											
SEC14L2	0	.	GRCh38	chr22	30399714	30399714	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tattttctcctgcgttggctCcgaggtgagggaagaggggc	6	11	16	8	2	1	2	0	1	1	1	3	4	2	3	2	5	1	2	2	5	2	4			C3N-00294_TP	C3N-00294_NB	C	C																c.126C>G	p.=	p.L42L	ENST00000615189	2/12	78	67	11	95	95	0	strelka-varscan-mutect	SEC14L2,synonymous_variant,p.=,ENST00000615189,NM_012429.4;SEC14L2,synonymous_variant,p.=,ENST00000405717,NM_033382.2;SEC14L2,synonymous_variant,p.=,ENST00000402592,NM_001204204.2;SEC14L2,synonymous_variant,p.=,ENST00000415072,;SEC14L2,intron_variant,,ENST00000617837,NM_001291932.1;SEC14L2,intron_variant,,ENST00000428195,;SEC14L2,intron_variant,,ENST00000429917,;RNF215,intron_variant,,ENST00000431544,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000459728,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000416523,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000485482,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000484486,;SEC14L2,synonymous_variant,p.=,ENST00000437022,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000619483,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000464335,;SEC14L2,intron_variant,,ENST00000452649,;	G	ENST00000615189	Transcript	synonymous_variant	386/4382	126/1212	42/403	L	ctC/ctG	COSM4462980	1		1	SEC14L2	HGNC	HGNC:10699	protein_coding	YES	CCDS13876.1	ENSP00000478755	O76054	A0A024R1I5	UPI0000135433	NM_012429.4			2/12		Gene3D:3.40.525.10,Prints_domain:PR00180,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF64,SMART_domains:SM01100,Superfamily_domains:SSF46938											1						LOW	1	SNV	1		1	1										PASS		.	.												G	2	3	46	30399714	30399714	C	G	1	0	0	0	0	0	0	0	1	14258	869	30	4		4	SEC14L2	22	30399714	Silent	SNP	C	C3N-00294_TP	113428	30399714	20418754	1228	14730											
INPP5J	0	.	GRCh38	chr22	31128270	31128270	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctttcaggaggggcccctCaacttcgctcccaccttcaa	7	9	9	16	1	3	0	3	0	0	0	5	1	4	1	4	4	1	2	4	4	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1956C>T	p.=	p.L652L	ENST00000331075	8/13	163	132	31	166	166	0	strelka-varscan-mutect	INPP5J,synonymous_variant,p.=,ENST00000412277,NM_001284286.1;INPP5J,synonymous_variant,p.=,ENST00000331075,NM_001284285.1;INPP5J,synonymous_variant,p.=,ENST00000405300,NM_001284289.1;INPP5J,synonymous_variant,p.=,ENST00000400294,NM_001284288.1;INPP5J,synonymous_variant,p.=,ENST00000620191,NM_001284287.1;INPP5J,synonymous_variant,p.=,ENST00000404390,NM_001002837.2;INPP5J,synonymous_variant,p.=,ENST00000401755,;INPP5J,synonymous_variant,p.=,ENST00000404453,;INPP5J,synonymous_variant,p.=,ENST00000402238,;INPP5J,downstream_gene_variant,,ENST00000412985,;INPP5J,downstream_gene_variant,,ENST00000420017,;INPP5J,downstream_gene_variant,,ENST00000463528,;INPP5J,non_coding_transcript_exon_variant,,ENST00000461241,;	T	ENST00000331075	Transcript	synonymous_variant	2005/3347	1956/3021	652/1006	L	ctC/ctT		1		1	INPP5J	HGNC	HGNC:8956	protein_coding	YES	CCDS63453.1	ENSP00000333262	Q15735		UPI000004CB11	NM_001284285.1			8/13		hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF127,Pfam_domain:PF03372,Gene3D:3.60.10.10,SMART_domains:SM00128,Superfamily_domains:SSF56219																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	46	31128270	31128270	C	T	1	0	0	0	0	0	0	0	1	7662	813	29	3		3	INPP5J	22	31128270	Silent	SNP	C	C3N-00294_TP	728556	31128270	19690198	1229	14731											
INPP5J	0	.	GRCh38	chr22	31133457	31133457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttatgtctgggccaaacatGaagatgtggatgggaatacc	12	10	12	7	0	1	2	0	1	1	1	1	4	1	4	2	3	2	0	2	3	5	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2383G>A	p.Glu795Lys	p.E795K	ENST00000331075	11/13	148	113	35	152	152	0	strelka-varscan-mutect	INPP5J,missense_variant,p.Glu728Lys,ENST00000412277,NM_001284286.1;INPP5J,missense_variant,p.Glu795Lys,ENST00000331075,NM_001284285.1;INPP5J,missense_variant,p.Glu428Lys,ENST00000405300,NM_001284289.1;INPP5J,missense_variant,p.Glu428Lys,ENST00000400294,NM_001284288.1;INPP5J,missense_variant,p.Glu360Lys,ENST00000620191,NM_001284287.1;INPP5J,missense_variant,p.Glu427Lys,ENST00000404390,NM_001002837.2;INPP5J,missense_variant,p.Glu160Lys,ENST00000401755,;INPP5J,missense_variant,p.Glu160Lys,ENST00000404453,;INPP5J,intron_variant,,ENST00000402238,;PLA2G3,downstream_gene_variant,,ENST00000215885,NM_015715.4;INPP5J,intron_variant,,ENST00000461241,;	A	ENST00000331075	Transcript	missense_variant	2432/3347	2383/3021	795/1006	E/K	Gaa/Aaa		1		1	INPP5J	HGNC	HGNC:8956	protein_coding	YES	CCDS63453.1	ENSP00000333262	Q15735		UPI000004CB11	NM_001284285.1	deleterious(0.03)		11/13		hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF127																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	46	31133457	31133457	G	A	1	0	0	0	0	1	0	0	0	7662	1291	45	3		3	INPP5J	22	31133457	Missense_Mutation	SNP	G	C3N-00294_TP	5187	31133457	19685011	1230	14732											
C22orf42	0	.	GRCh38	chr22	32149549	32149549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacttggaacactaaagccgGagaagtcctagaacctggct	13	8	10	10	1	0	2	0	0	0	2	1	4	1	3	3	3	4	1	3	3	7	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.747C>T	p.=	p.L249L	ENST00000382097	9/9	179	144	35	178	178	0	strelka-varscan-mutect	C22orf42,synonymous_variant,p.=,ENST00000382097,NM_001010859.1;C22orf42,non_coding_transcript_exon_variant,,ENST00000490640,;C22orf42,non_coding_transcript_exon_variant,,ENST00000467813,;	A	ENST00000382097	Transcript	synonymous_variant	820/1363	747/756	249/251	L	ctC/ctT		1		-1	C22orf42	HGNC	HGNC:27160	protein_coding	YES	CCDS33639.1	ENSP00000371529	Q6IC83		UPI00003765B0	NM_001010859.1			9/9		hmmpanther:PTHR15880,hmmpanther:PTHR15880:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	32149549	32149549	G	A	1	0	0	0	0	0	0	0	1	2022	1161	41	3		3	C22orf42	22	32149549	Silent	SNP	G	C3N-00294_TP	1016092	32149549	18668919	1231	14733											
HMGXB4	0	.	GRCh38	chr22	35262403	35262403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaccaccatggcttatgatGactccgtgaagaaagaaggt	13	8	12	8	1	0	5	0	3	0	2	1	6	1	6	3	3	0	1	3	3	4	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.13G>A	p.Asp5Asn	p.D5N	ENST00000216106	2/11	153	127	26	202	201	1	strelka-varscan-mutect	HMGXB4,missense_variant,p.Asp5Asn,ENST00000216106,NM_001003681.2;HMGXB4,intron_variant,,ENST00000455359,;HMGXB4,intron_variant,,ENST00000420166,;HMGXB4,downstream_gene_variant,,ENST00000466438,;HMGXB4,missense_variant,p.Asp5Asn,ENST00000418170,;HMGXB4,non_coding_transcript_exon_variant,,ENST00000498325,;HMGXB4,upstream_gene_variant,,ENST00000464480,;	A	ENST00000216106	Transcript	missense_variant	141/4047	13/1806	5/601	D/N	Gac/Aac		1		1	HMGXB4	HGNC	HGNC:5003	protein_coding	YES	CCDS33641.1	ENSP00000216106	Q9UGU5		UPI00003765B4	NM_001003681.2	deleterious_low_confidence(0.01)		2/11																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	35262403	35262403	G	A	1	0	0	0	0	1	0	0	0	7132	1290	45	3		3	HMGXB4	22	35262403	Missense_Mutation	SNP	G	C3N-00294_TP	3112854	35262403	15556065	1232	14734											
RBFOX2	0	.	GRCh38	chr22	35761464	35761464	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccaactactgggcttaatttCcaacctgaaacacacaaaat	16	9	4	12	0	0	1	0	1	0	0	1	1	1	1	3	1	4	1	3	1	7	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.822G>C	p.Trp274Cys	p.W274C	ENST00000438146	8/14	177	142	35	216	216	0	strelka-varscan-mutect	RBFOX2,missense_variant,p.Trp204Cys,ENST00000405409,NM_014309.2;RBFOX2,missense_variant,p.Trp203Cys,ENST00000449924,NM_001031695.2;RBFOX2,missense_variant,p.Trp203Cys,ENST00000414461,NM_001082577.1;RBFOX2,missense_variant,p.Trp185Cys,ENST00000262829,;RBFOX2,missense_variant,p.Trp183Cys,ENST00000359369,;RBFOX2,missense_variant,p.Trp274Cys,ENST00000438146,NM_001082578.1,NM_001082579.1;RBFOX2,missense_variant,p.Trp184Cys,ENST00000397303,;RBFOX2,missense_variant,p.Trp203Cys,ENST00000416721,NM_001082576.1;RBFOX2,missense_variant,p.Trp183Cys,ENST00000473487,;RBFOX2,missense_variant,p.Trp56Cys,ENST00000495377,;	G	ENST00000438146	Transcript	missense_variant	822/1356	822/1356	274/451	W/C	tgG/tgC		1		-1	RBFOX2	HGNC	HGNC:9906	protein_coding	YES	CCDS43013.1	ENSP00000413035	O43251		UPI00015DF7D4	NM_001082578.1,NM_001082579.1			8/14		hmmpanther:PTHR15597,hmmpanther:PTHR15597:SF31,PIRSF_domain:PIRSF037932																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	35761464	35761464	C	G	1	0	0	0	0	1	0	0	0	13272	869	30	4		4	RBFOX2	22	35761464	Missense_Mutation	SNP	C	C3N-00294_TP	499061	35761464	15057004	1233	14735											
EIF3L	0	.	GRCh38	chr22	37849441	37849441	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccggcggtgctcgcaagcGaggcagccatgtcttatccc	6	9	12	14	4	1	0	0	0	1	0	4	1	3	0	3	3	3	3	3	3	2	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.121G>T	p.Glu41Ter	p.E41*	ENST00000412331	1/13	64	47	17	74	74	0	strelka-varscan-mutect	EIF3L,stop_gained,p.Glu41Ter,ENST00000412331,;EIF3L,5_prime_UTR_variant,,ENST00000624234,NM_016091.3;EIF3L,5_prime_UTR_variant,,ENST00000381683,NM_001242923.1;EIF3L,5_prime_UTR_variant,,ENST00000414316,;EIF3L,upstream_gene_variant,,ENST00000406934,;ANKRD54,upstream_gene_variant,,ENST00000609454,;EIF3L,upstream_gene_variant,,ENST00000451427,;MIR659,upstream_gene_variant,,ENST00000384963,;EIF3L,non_coding_transcript_exon_variant,,ENST00000476955,;ANKRD54,upstream_gene_variant,,ENST00000609706,;EIF3L,stop_gained,p.Glu11Ter,ENST00000439997,;EIF3L,stop_gained,p.Glu8Ter,ENST00000436452,;EIF3L,non_coding_transcript_exon_variant,,ENST00000477256,;	T	ENST00000412331	Transcript	stop_gained	574/3220	121/1824	41/607	E/*	Gag/Tag		1		1	EIF3L	HGNC	HGNC:18138	protein_coding			ENSP00000416892		B0QY89	UPI000021D183				1/13																			HIGH		SNV	1			1										PASS		rs1426494569	.												T	4	4	46	37849441	37849441	G	T	1	0	0	0	0	0	1	0	0	4856	1059	37	1		1	EIF3L	22	37849441	Nonsense_Mutation	SNP	G	C3N-00294_TP	2087977	37849441	12969027	1234	14736											
EIF3L	0	.	GRCh38	chr22	37849465	37849465	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagccatgtcttatcccgctGatgattatgagtctgaggta	9	13	10	9	1	2	4	0	4	2	0	3	4	3	4	2	1	1	2	2	1	3	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.16G>C	p.Asp6His	p.D6H	ENST00000624234	1/13	53	39	14	60	60	0	strelka-varscan-mutect	EIF3L,missense_variant,p.Asp49His,ENST00000412331,;EIF3L,missense_variant,p.Asp6His,ENST00000624234,NM_016091.3;EIF3L,missense_variant,p.Asp6His,ENST00000381683,NM_001242923.1;EIF3L,missense_variant,p.Asp6His,ENST00000414316,;EIF3L,upstream_gene_variant,,ENST00000406934,;ANKRD54,upstream_gene_variant,,ENST00000609454,;EIF3L,upstream_gene_variant,,ENST00000451427,;MIR659,upstream_gene_variant,,ENST00000384963,;EIF3L,non_coding_transcript_exon_variant,,ENST00000476955,;ANKRD54,upstream_gene_variant,,ENST00000609706,;EIF3L,missense_variant,p.Asp19His,ENST00000439997,;EIF3L,missense_variant,p.Asp16His,ENST00000436452,;EIF3L,non_coding_transcript_exon_variant,,ENST00000477256,;	C	ENST00000624234	Transcript	missense_variant	94/2091	16/1695	6/564	D/H	Gat/Cat		1		1	EIF3L	HGNC	HGNC:18138	protein_coding	YES	CCDS13960.1	ENSP00000485663	Q9Y262		UPI00000012D7	NM_016091.3	deleterious(0.01)		1/13		hmmpanther:PTHR13242,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	37849465	37849465	G	C	1	0	0	0	0	1	0	0	0	4856	1290	45	4		4	EIF3L	22	37849465	Missense_Mutation	SNP	G	C3N-00294_TP	24	37849465	12969003	1235	14737											
PLA2G6	0	.	GRCh38	chr22	38123207	38123207	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcgatgaggagctggatGatgatgaggcctttcactcc	9	10	14	8	1	1	4	1	4	0	0	2	7	2	6	2	4	1	1	2	4	0	1			C3N-00294_TP	C3N-00294_NB	G	G																c.1479C>T	p.=	p.I493I	ENST00000332509	11/17	488	387	101	523	523	0	strelka-varscan-mutect	PLA2G6,synonymous_variant,p.=,ENST00000332509,NM_003560.2;PLA2G6,synonymous_variant,p.=,ENST00000335539,NM_001004426.1;PLA2G6,synonymous_variant,p.=,ENST00000402064,NM_001199562.1;PLA2G6,downstream_gene_variant,,ENST00000452794,;PLA2G6,non_coding_transcript_exon_variant,,ENST00000490473,;PLA2G6,synonymous_variant,p.=,ENST00000454670,;PLA2G6,3_prime_UTR_variant,,ENST00000448094,;PLA2G6,non_coding_transcript_exon_variant,,ENST00000491986,;PLA2G6,upstream_gene_variant,,ENST00000496409,;PLA2G6,downstream_gene_variant,,ENST00000471636,;PLA2G6,downstream_gene_variant,,ENST00000480154,;	A	ENST00000332509	Transcript	synonymous_variant	1663/3271	1479/2421	493/806	I	atC/atT	COSM3939651	1		-1	PLA2G6	HGNC	HGNC:9039	protein_coding	YES	CCDS13967.1	ENSP00000333142	O60733		UPI00001310F3	NM_003560.2			11/17		hmmpanther:PTHR24139,Pfam_domain:PF01734,Gene3D:3.40.1090.10,Superfamily_domains:SSF52151											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	46	38123207	38123207	G	A	1	0	0	0	0	0	0	0	1	12104	1280	45	3		3	PLA2G6	22	38123207	Silent	SNP	G	C3N-00294_TP	273742	38123207	12695261	1236	14738											
EP300	0	.	GRCh38	chr22	41140225	41140225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcatatgctcggaaagttGaaggggacatgtatgaatct	12	12	12	5	1	1	2	0	2	1	0	2	4	1	4	0	3	2	4	0	3	5	4	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1846G>A	p.Glu616Lys	p.E616K	ENST00000263253	9/31	440	356	84	440	440	0	strelka-varscan-mutect	EP300,missense_variant,p.Glu616Lys,ENST00000263253,NM_001429.3;EP300,missense_variant,p.Glu95Lys,ENST00000634690,;EP300,upstream_gene_variant,,ENST00000634728,;	A	ENST00000263253	Transcript	missense_variant	3065/9587	1846/7245	616/2414	E/K	Gaa/Aaa		1		1	EP300	HGNC	HGNC:3373	protein_coding	YES	CCDS14010.1	ENSP00000263253	Q09472		UPI00001AE876	NM_001429.3	deleterious(0)		9/31		PROSITE_profiles:PS50952,hmmpanther:PTHR13808:SF4,hmmpanther:PTHR13808,Gene3D:1sb0A00,Pfam_domain:PF02172,Superfamily_domains:0053605																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	41140225	41140225	G	A	1	0	0	0	0	1	0	0	0	4994	1291	45	3		3	EP300	22	41140225	Missense_Mutation	SNP	G	C3N-00294_TP	3017018	41140225	9678243	1237	14739											
MEI1	0	.	GRCh38	chr22	41716063	41716063	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtgtaacatgccctccatgcGaggcagcctggccaccctga	8	7	11	15	1	0	1	0	1	0	0	1	2	1	1	5	2	4	2	5	2	1	1	rs769557362		C3N-00294_TP	C3N-00294_NB	G	G																c.446G>C	p.Arg149Pro	p.R149P	ENST00000401548	5/31	156	126	30	153	153	0	strelka-varscan-mutect	MEI1,missense_variant,p.Arg149Pro,ENST00000401548,NM_152513.3;MEI1,5_prime_UTR_variant,,ENST00000540833,;	C	ENST00000401548	Transcript	missense_variant	486/4020	446/3825	149/1274	R/P	cGa/cCa	rs769557362	1		1	MEI1	HGNC	HGNC:28613	protein_coding	YES	CCDS46718.1	ENSP00000384115	Q5TIA1		UPI00006E232C	NM_152513.3	deleterious(0.01)		5/31		hmmpanther:PTHR12044,hmmpanther:PTHR12044:SF10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	2			1										PASS		rs769557362	.												C	3	2	46	41716063	41716063	G	C	1	0	0	0	0	1	0	0	0	9405	1058	37	4		4	MEI1	22	41716063	Missense_Mutation	SNP	G	C3N-00294_TP	575838	41716063	9102405	1238	14740											
SCUBE1	0	.	GRCh38	chr22	43218325	43218325	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagcgccttggctggcctCtgggctacctcgtactcagt	4	11	11	15	2	2	0	1	0	1	0	4	0	3	0	4	3	3	3	4	3	2	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1821G>A	p.=	p.Q607Q	ENST00000360835	15/22	337	273	64	424	424	0	strelka-varscan-mutect	SCUBE1,synonymous_variant,p.=,ENST00000360835,NM_173050.3;SCUBE1,intron_variant,,ENST00000615096,;Z82214.3,downstream_gene_variant,,ENST00000420269,;	T	ENST00000360835	Transcript	synonymous_variant	1948/9808	1821/2967	607/988	Q	caG/caA		1		-1	SCUBE1	HGNC	HGNC:13441	protein_coding	YES	CCDS14048.1	ENSP00000354080	Q8IWY4		UPI000020790F	NM_173050.3			15/22		hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF4																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	43218325	43218325	C	T	1	0	0	0	0	0	0	0	1	14215	912	32	3		3	SCUBE1	22	43218325	Silent	SNP	C	C3N-00294_TP	1502262	43218325	7600143	1239	14741											
PHF21B	0	.	GRCh38	chr22	44914071	44914071	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgcggggtgaggggaagaGaggaggcgtggaggaggctg	8	5	25	3	2	0	2	0	1	0	1	0	7	0	6	0	9	1	2	0	9	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.582C>G	p.=	p.L194L	ENST00000313237	5/13	41	31	10	43	43	0	strelka-varscan-mutect	PHF21B,synonymous_variant,p.=,ENST00000313237,NM_138415.4;PHF21B,intron_variant,,ENST00000403565,NM_001284296.1;PHF21B,intron_variant,,ENST00000396103,NM_001242450.1;PHF21B,intron_variant,,ENST00000629843,NM_001135862.2;PHF21B,intron_variant,,ENST00000420689,;PHF21B,intron_variant,,ENST00000414269,;PHF21B,downstream_gene_variant,,ENST00000490679,;PHF21B,downstream_gene_variant,,ENST00000460507,;PHF21B,downstream_gene_variant,,ENST00000474327,;	C	ENST00000313237	Transcript	synonymous_variant	733/3671	582/1596	194/531	L	ctC/ctG		1		-1	PHF21B	HGNC	HGNC:25161	protein_coding	YES	CCDS14061.1	ENSP00000324403	Q96EK2	A0A0S2Z6R3	UPI0000072111	NM_138415.4			5/13																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	46	44914071	44914071	G	C	1	0	0	0	0	0	0	0	1	11920	929	33	4		4	PHF21B	22	44914071	Silent	SNP	G	C3N-00294_TP	1695746	44914071	5904397	1240	14742											
FBLN1	0	.	GRCh38	chr22	45533063	45533063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catgcacgctgtgcttccagGaggcgggccctgcaagcagc	7	6	14	14	2	0	0	0	0	0	0	1	1	1	1	2	3	5	5	2	3	1	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.545G>A	p.Gly182Glu	p.G182E	ENST00000327858	6/17	271	226	45	308	308	0	strelka-varscan-mutect	FBLN1,missense_variant,p.Gly182Glu,ENST00000327858,NM_006486.2;FBLN1,missense_variant,p.Gly182Glu,ENST00000442170,NM_006485.3;FBLN1,missense_variant,p.Gly220Glu,ENST00000402984,;FBLN1,missense_variant,p.Gly182Glu,ENST00000340923,NM_006487.2;FBLN1,missense_variant,p.Gly182Glu,ENST00000262722,NM_001996.3;FBLN1,missense_variant,p.Gly162Glu,ENST00000455233,;FBLN1,missense_variant,p.Gly102Glu,ENST00000451475,;FBLN1,downstream_gene_variant,,ENST00000411478,;FBLN1,downstream_gene_variant,,ENST00000454279,;FBLN1,missense_variant,p.Gly77Glu,ENST00000437711,;FBLN1,non_coding_transcript_exon_variant,,ENST00000460538,;FBLN1,upstream_gene_variant,,ENST00000465578,;FBLN1,upstream_gene_variant,,ENST00000484531,;	A	ENST00000327858	Transcript	missense_variant,splice_region_variant	640/2896	545/2112	182/703	G/E	gGa/gAa		1		1	FBLN1	HGNC	HGNC:3600	protein_coding	YES	CCDS14067.1	ENSP00000331544	P23142		UPI00001AE84C	NM_006486.2	tolerated(0.07)		6/17		Gene3D:2.10.25.10,PIRSF_domain:PIRSF036313,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF272,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	45533063	45533063	G	A	1	0	0	0	0	1	0	0	0	5561	1188	41	3		3	FBLN1	22	45533063	Missense_Mutation	SNP	G	C3N-00294_TP	618992	45533063	5285405	1241	14743											
PKDREJ	0	.	GRCh38	chr22	46261632	46261632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggattaattttgcattctCcgatctgagggccatggtta	8	15	10	8	1	2	1	0	1	2	0	3	3	2	2	2	3	1	2	2	3	2	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1691G>C	p.Gly564Ala	p.G564A	ENST00000253255	1/1	190	136	54	152	152	0	strelka-varscan-mutect	PKDREJ,missense_variant,p.Gly564Ala,ENST00000253255,NM_006071.1;	G	ENST00000253255	Transcript	missense_variant	1724/7693	1691/6762	564/2253	G/A	gGa/gCa		1		-1	PKDREJ	HGNC	HGNC:9015	protein_coding	YES	CCDS14073.1	ENSP00000253255	Q9NTG1		UPI0000031D01	NM_006071.1	deleterious(0.01)		1/1		PROSITE_profiles:PS51111,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF141,Pfam_domain:PF02010																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	46	46261632	46261632	C	G	1	0	0	0	0	1	0	0	0	12066	855	30	4		4	PKDREJ	22	46261632	Missense_Mutation	SNP	C	C3N-00294_TP	728569	46261632	4556836	1242	14744											
GPM6B	0	.	GRCh38	chrX	13807749	13807749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagtggtacctgccaatttCcatttcagctctgctgttca	7	14	7	13	0	3	0	2	0	1	0	4	0	4	0	4	1	4	4	4	1	2	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.82G>A	p.Glu28Lys	p.E28K	ENST00000316715	2/8	47	19	28	39	39	0	strelka-varscan-mutect	GPM6B,missense_variant,p.Glu28Lys,ENST00000316715,NM_001001995.1;GPM6B,missense_variant,p.Glu28Lys,ENST00000355135,NM_001001996.1;GPM6B,missense_variant,p.Glu2Lys,ENST00000493677,;GPM6B,intron_variant,,ENST00000454189,NM_001001994.1;GPM6B,intron_variant,,ENST00000356942,NM_005278.3;GPM6B,intron_variant,,ENST00000398361,;GPM6B,intron_variant,,ENST00000475307,;GPM6B,intron_variant,,ENST00000468080,;GPM6B,intron_variant,,ENST00000493085,;	T	ENST00000316715	Transcript	missense_variant	520/3275	82/987	28/328	E/K	Gaa/Aaa		1		-1	GPM6B	HGNC	HGNC:4461	protein_coding	YES	CCDS35206.1	ENSP00000316861	Q13491		UPI00000721CA	NM_001001995.1	tolerated_low_confidence(0.25)		2/8		hmmpanther:PTHR11683,hmmpanther:PTHR11683:SF10																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	46	13807749	13807749	C	T	1	0	0	0	0	1	0	0	0	6518	864	30	3		3	GPM6B	23	13807749	Missense_Mutation	SNP	C	C3N-00294_TP		13807749	142233146	1243	14745											
MAP3K15	0	.	GRCh38	chrX	19459993	19459993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatttcatacctggatatCacggtaggacaggagtaagt	12	11	12	6	1	2	0	2	0	0	0	2	4	2	4	1	5	1	2	1	5	4	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.880G>A	p.Asp294Asn	p.D294N	ENST00000338883	5/29	38	23	15	32	32	0	strelka-varscan-mutect	MAP3K15,missense_variant,p.Asp294Asn,ENST00000338883,NM_001001671.3;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;MAP3K15,missense_variant,p.Asp46Asn,ENST00000359173,;	T	ENST00000338883	Transcript	missense_variant	880/4012	880/3942	294/1313	D/N	Gat/Aat		1		-1	MAP3K15	HGNC	HGNC:31689	protein_coding	YES	CCDS35212.2	ENSP00000345629	Q6ZN16		UPI0000E444D0	NM_001001671.3	deleterious(0)		5/29		hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363,Pfam_domain:PF13281																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	46	19459993	19459993	C	T	1	0	0	0	0	1	0	0	0	9171	826	29	3		3	MAP3K15	23	19459993	Missense_Mutation	SNP	C	C3N-00294_TP	5652244	19459993	136580902	1244	14746											
PPP4R3CP	0	.	GRCh38	chrX	27462527	27462527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtattttttgcctaagttcaGagttagttattggtataact	10	19	8	4	0	1	1	1	0	0	1	1	1	1	1	1	1	2	5	1	1	6	11	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.770C>T	p.Ser257Phe	p.S257F	ENST00000412172	1/1	91	55	36	157	157	0	strelka-varscan-mutect	PPP4R3CP,missense_variant,p.Ser257Phe,ENST00000412172,;	A	ENST00000412172	Transcript	missense_variant	815/3131	770/2499	257/832	S/F	tCt/tTt		1		-1	PPP4R3CP	HGNC	HGNC:33146	protein_coding	YES		ENSP00000489770			UPI0000D61D3F				1/1		Pfam_domain:PF04802,hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF5,Superfamily_domains:SSF48371																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	46	27462527	27462527	G	A	1	0	0	0	0	1	0	0	0	12529	942	33	3		3	PPP4R3CP	23	27462527	Missense_Mutation	SNP	G	C3N-00294_TP	8002534	27462527	128578368	1245	14747											
USP11	0	.	GRCh38	chrX	47244702	47244702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatgacgaggaggataaaGatgacgtccctgggccctca	13	6	13	9	2	1	4	1	2	0	2	2	7	2	6	2	3	0	0	2	3	3	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1993G>A	p.Asp665Asn	p.D665N	ENST00000218348	15/21	71	38	33	81	81	0	strelka-varscan-mutect	USP11,missense_variant,p.Asp622Asn,ENST00000377107,;USP11,missense_variant,p.Asp665Asn,ENST00000218348,NM_004651.3;USP11,downstream_gene_variant,,ENST00000377078,;USP11,downstream_gene_variant,,ENST00000377080,;USP11,non_coding_transcript_exon_variant,,ENST00000469080,;USP11,non_coding_transcript_exon_variant,,ENST00000488848,;USP11,non_coding_transcript_exon_variant,,ENST00000497179,;USP11,downstream_gene_variant,,ENST00000478596,;USP11,downstream_gene_variant,,ENST00000480104,;USP11,upstream_gene_variant,,ENST00000467378,;USP11,downstream_gene_variant,,ENST00000489111,;USP11,downstream_gene_variant,,ENST00000489030,;	A	ENST00000218348	Transcript	missense_variant	2042/3338	1993/2892	665/963	D/N	Gat/Aat		1		1	USP11	HGNC	HGNC:12609	protein_coding	YES	CCDS14277.1	ENSP00000218348	P51784		UPI0000161434	NM_004651.3	tolerated(0.44)		15/21		Low_complexity_(Seg):seg,PROSITE_profiles:PS50235,Pfam_domain:PF00443																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	47244702	47244702	G	A	1	0	0	0	0	1	0	0	0	17576	942	33	3		3	USP11	23	47244702	Missense_Mutation	SNP	G	C3N-00294_TP	19782175	47244702	108796193	1246	14748											
EBP	0	.	GRCh38	chrX	48528380	48528380	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcctggagtccttgtgcttGatgctgtgaagcacctcact	6	13	11	11	0	1	2	1	2	0	0	2	3	2	3	3	1	4	3	3	1	1	2			C3N-00294_TP	C3N-00294_NB	G	G																c.616G>C	p.Asp206His	p.D206H	ENST00000495186	5/5	154	96	58	174	174	0	strelka-varscan-mutect	EBP,missense_variant,p.Asp206His,ENST00000495186,NM_006579.2;EBP,downstream_gene_variant,,ENST00000446158,;EBP,downstream_gene_variant,,ENST00000414061,;Metazoa_SRP,downstream_gene_variant,,ENST00000610965,;EBP,non_coding_transcript_exon_variant,,ENST00000276096,;EBP,non_coding_transcript_exon_variant,,ENST00000498425,;EBP,downstream_gene_variant,,ENST00000466461,;	C	ENST00000495186	Transcript	missense_variant	1439/1775	616/693	206/230	D/H	Gat/Cat	CM086600	1		1	EBP	HGNC	HGNC:3133	protein_coding	YES	CCDS14300.1	ENSP00000417052	Q15125	A0A024QYX0	UPI000000DB82	NM_006579.2	tolerated(0.14)		5/5		Pfam_domain:PF05241,hmmpanther:PTHR14207,hmmpanther:PTHR14207:SF0																	MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	46	48528380	48528380	G	C	1	0	0	0	0	1	0	0	0	4712	1290	45	4		4	EBP	23	48528380	Missense_Mutation	SNP	G	C3N-00294_TP	1283678	48528380	107512515	1247	14749											
CACNA1F	0	.	GRCh38	chrX	49205161	49205161	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggcgtggacgcaggccatCtcgtctcccaagtcctcctc	6	8	11	16	3	2	0	0	0	2	0	7	1	4	1	4	3	0	1	4	3	1	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.5910G>C	p.Glu1970Asp	p.E1970D	ENST00000376265	48/48	125	88	37	98	98	0	strelka-varscan-mutect	CACNA1F,missense_variant,p.Glu1970Asp,ENST00000376265,NM_005183.3;CACNA1F,missense_variant,p.Glu1959Asp,ENST00000323022,NM_001256789.2;CACNA1F,missense_variant,p.Glu1905Asp,ENST00000376251,NM_001256790.2;SYP,upstream_gene_variant,,ENST00000263233,NM_003179.2;SYP,upstream_gene_variant,,ENST00000479808,;SYP,upstream_gene_variant,,ENST00000472598,;CACNA1F,downstream_gene_variant,,ENST00000486943,;SYP-AS1,downstream_gene_variant,,ENST00000433499,;SYP,upstream_gene_variant,,ENST00000494396,;SYP,upstream_gene_variant,,ENST00000376303,;CACNA1F,downstream_gene_variant,,ENST00000481035,;SYP,upstream_gene_variant,,ENST00000469389,;SYP,upstream_gene_variant,,ENST00000472737,;SYP,upstream_gene_variant,,ENST00000466635,;	G	ENST00000376265	Transcript	missense_variant	5972/6070	5910/5934	1970/1977	E/D	gaG/gaC		1		-1	CACNA1F	HGNC	HGNC:1393	protein_coding	YES	CCDS35253.1	ENSP00000365441	O60840		UPI0000072854	NM_005183.3	tolerated_low_confidence(0.13)		48/48		Pfam_domain:PF16885																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	49205161	49205161	C	G	1	0	0	0	0	1	0	0	0	2231	912	32	4		4	CACNA1F	23	49205161	Missense_Mutation	SNP	C	C3N-00294_TP	676781	49205161	106835734	1248	14750											
SHROOM4	0	.	GRCh38	chrX	50634557	50634557	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggtccaggaaacctttttCtgaggggtgtccatcagcct	7	12	12	10	0	2	1	1	1	1	0	4	2	4	2	4	4	2	0	4	4	1	2	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1516G>C	p.Glu506Gln	p.E506Q	ENST00000376020	4/9	462	334	128	385	385	0	strelka-varscan-mutect	SHROOM4,missense_variant,p.Glu506Gln,ENST00000376020,NM_020717.3;SHROOM4,missense_variant,p.Glu390Gln,ENST00000460112,;SHROOM4,missense_variant,p.Glu506Gln,ENST00000289292,;	G	ENST00000376020	Transcript	missense_variant	1542/9556	1516/4482	506/1493	E/Q	Gaa/Caa		1		-1	SHROOM4	HGNC	HGNC:29215	protein_coding	YES	CCDS35277.1	ENSP00000365188	Q9ULL8		UPI00001C2068	NM_020717.3	deleterious(0.02)		4/9		hmmpanther:PTHR15012:SF35,hmmpanther:PTHR15012																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	46	50634557	50634557	C	G	1	0	0	0	0	1	0	0	0	14559	922	32	4		4	SHROOM4	23	50634557	Missense_Mutation	SNP	C	C3N-00294_TP	1429396	50634557	105406338	1249	14751											
SHROOM4	0	.	GRCh38	chrX	50634848	50634848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgttcaggggcactatggcGatgccctgtgggtcctatga	6	11	14	10	1	1	1	1	1	0	0	2	2	2	1	2	4	1	2	2	4	2	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1225C>T	p.Arg409Cys	p.R409C	ENST00000376020	4/9	386	285	101	310	310	0	strelka-varscan-mutect	SHROOM4,missense_variant,p.Arg409Cys,ENST00000376020,NM_020717.3;SHROOM4,missense_variant,p.Arg293Cys,ENST00000460112,;SHROOM4,missense_variant,p.Arg409Cys,ENST00000289292,;	A	ENST00000376020	Transcript	missense_variant	1251/9556	1225/4482	409/1493	R/C	Cgc/Tgc		1		-1	SHROOM4	HGNC	HGNC:29215	protein_coding	YES	CCDS35277.1	ENSP00000365188	Q9ULL8		UPI00001C2068	NM_020717.3	deleterious(0)		4/9		hmmpanther:PTHR15012:SF35,hmmpanther:PTHR15012																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	46	50634848	50634848	G	A	1	0	0	0	0	1	0	0	0	14559	1058	37	1		1	SHROOM4	23	50634848	Missense_Mutation	SNP	G	C3N-00294_TP	291	50634848	105406047	1250	14752											
KDM5C	0	.	GRCh38	chrX	53224741	53224741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccggccccggggcttaccGcgggtgggcggatcttgcaa	6	6	16	13	5	1	0	0	0	1	0	1	1	1	1	4	6	3	2	4	6	3	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.149C>T	p.Ala50Val	p.A50V	ENST00000375401	1/26	84	75	9	77	77	0	strelka-varscan-mutect	KDM5C,missense_variant,p.Ala50Val,ENST00000452825,NM_001146702.1;KDM5C,missense_variant,p.Ala50Val,ENST00000375401,NM_004187.3;KDM5C,missense_variant,p.Ala50Val,ENST00000404049,NM_001282622.1;KDM5C,missense_variant,p.Ala50Val,ENST00000375379,;KDM5C,missense_variant,p.Ala50Val,ENST00000375383,;KDM5C,upstream_gene_variant,,ENST00000467093,;KDM5C,missense_variant,p.Ala50Val,ENST00000429877,;KDM5C,missense_variant,p.Ala50Val,ENST00000428012,;KDM5C,missense_variant,p.Ala50Val,ENST00000349663,;	A	ENST00000375401	Transcript	missense_variant,splice_region_variant	682/6031	149/4683	50/1560	A/V	gCg/gTg		1		-1	KDM5C	HGNC	HGNC:11114	protein_coding	YES	CCDS14351.1	ENSP00000364550	P41229		UPI000013CBE3	NM_004187.3	tolerated(0.08)		1/26		PROSITE_profiles:PS51183,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF43,SMART_domains:SM00545																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	53224741	53224741	G	A	1	0	0	0	0	1	0	0	0	8053	1101	38	1		1	KDM5C	23	53224741	Missense_Mutation	SNP	G	C3N-00294_TP	2589893	53224741	102816154	1251	14753											
AR	0	.	GRCh38	chrX	67546608	67546608	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggctacactcggccccctCaggggctggcgggccaggaa	7	4	15	15	3	1	0	1	0	0	0	2	1	1	1	3	7	1	2	3	7	2	1			C3N-00294_TP	C3N-00294_NB	C	C																c.1462C>T	p.Gln488Ter	p.Q488*	ENST00000374690	1/8	263	187	76	226	226	0	strelka-varscan-mutect	AR,stop_gained,p.Gln298Ter,ENST00000612452,;AR,stop_gained,p.Gln488Ter,ENST00000396044,;AR,stop_gained,p.Gln488Ter,ENST00000374690,NM_000044.3;AR,stop_gained,p.Gln488Ter,ENST00000612010,;AR,stop_gained,p.Gln488Ter,ENST00000504326,;AR,stop_gained,p.Gln488Ter,ENST00000613054,;AR,non_coding_transcript_exon_variant,,ENST00000513847,;AR,stop_gained,p.Gln488Ter,ENST00000514029,;	T	ENST00000374690	Transcript	stop_gained	1986/10065	1462/2763	488/920	Q/*	Cag/Tag	CM015295,COSM4828414,COSM4828415	1		1	AR	HGNC	HGNC:644	protein_coding	YES	CCDS14387.1	ENSP00000363822	P10275		UPI0000167B08	NM_000044.3			1/8		hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF6											0,1,1						HIGH	1	SNV	1		1,1,1	1										PASS		.	.												T	4	4	46	67546608	67546608	C	T	1	0	0	0	0	0	1	0	0	958	827	29	3		3	AR	23	67546608	Nonsense_Mutation	SNP	C	C3N-00294_TP	14321867	67546608	88494287	1252	14754											
RP11-402P6.15	0	.	GRCh38	chrX	71668843	71668843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctgcctgggggcagaGactttcagcagttccacctg	6	11	11	13	0	1	1	1	0	0	1	3	2	3	1	4	2	2	3	4	2	0	3	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1040G>T	p.Arg347Ile	p.R347I	ENST00000636096	1/5	21	4	17	10	10	0	strelka-varscan-mutect	RP11-402P6.15,missense_variant,p.Arg347Ile,ENST00000636096,;RP11-402P6.15,missense_variant,p.Arg235Ile,ENST00000636797,;RP11-402P6.9,upstream_gene_variant,,ENST00000422194,;RP11-402P6.9,upstream_gene_variant,,ENST00000433410,;RP11-402P6.9,upstream_gene_variant,,ENST00000637198,;	T	ENST00000636096	Transcript	missense_variant	1040/1732	1040/1590	347/529	R/I	aGa/aTa		1		1	RP11-402P6.15	Clone_based_vega_gene		protein_coding	YES		ENSP00000490941					deleterious(0.01)		1/5		Pfam_domain:PF15483,hmmpanther:PTHR31866,hmmpanther:PTHR31866:SF1																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	46	71668843	71668843	G	T	1	0	0	0	0	1	0	0	0	13738	942	33	2		2	RP11-402P6.15	23	71668843	Missense_Mutation	SNP	G	C3N-00294_TP	4122235	71668843	84372052	1253	14755											
BRWD3	0	.	GRCh38	chrX	80691931	80691931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatagcaaagcagtcaattCttcctgggagacaggaacac	14	8	10	9	0	2	1	1	0	1	1	3	3	3	2	1	2	3	3	1	2	5	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.3373G>A	p.Glu1125Lys	p.E1125K	ENST00000373275	30/41	332	230	102	269	269	0	strelka-varscan-mutect	BRWD3,missense_variant,p.Glu1125Lys,ENST00000373275,NM_153252.4;BRWD3,non_coding_transcript_exon_variant,,ENST00000473691,;	T	ENST00000373275	Transcript	missense_variant	3590/11381	3373/5409	1125/1802	E/K	Gaa/Aaa		1		-1	BRWD3	HGNC	HGNC:17342	protein_coding	YES	CCDS14447.1	ENSP00000362372	Q6RI45		UPI000045785B	NM_153252.4	deleterious(0)		30/41		hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	80691931	80691931	C	T	1	0	0	0	0	1	0	0	0	1700	922	32	3		3	BRWD3	23	80691931	Missense_Mutation	SNP	C	C3N-00294_TP	9023088	80691931	75348964	1254	14756											
DACH2	0	.	GRCh38	chrX	86376844	86376844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaagaggcaaatgacaaGaaaacaagctgttaacaggt	20	5	11	5	0	0	3	0	1	0	2	0	4	0	4	0	3	3	3	0	3	8	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.509G>A	p.Arg170Lys	p.R170K	ENST00000373125	2/12	39	25	14	50	50	0	strelka-varscan-mutect	DACH2,missense_variant,p.Arg170Lys,ENST00000373125,NM_053281.3;DACH2,missense_variant,p.Arg3Lys,ENST00000508860,NM_001139515.1;DACH2,intron_variant,,ENST00000373131,NM_001139514.1;DACH2,intron_variant,,ENST00000510272,;DACH2,missense_variant,p.Arg170Lys,ENST00000461604,;DACH2,intron_variant,,ENST00000506327,;	A	ENST00000373125	Transcript	missense_variant	509/2232	509/1800	170/599	R/K	aGa/aAa		1		1	DACH2	HGNC	HGNC:16814	protein_coding	YES	CCDS14455.1	ENSP00000362217	Q96NX9		UPI00000717B4	NM_053281.3	tolerated_low_confidence(0.78)		2/12		hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	86376844	86376844	G	A	1	0	0	0	0	1	0	0	0	4022	942	33	3		3	DACH2	23	86376844	Missense_Mutation	SNP	G	C3N-00294_TP	5684913	86376844	69664051	1255	14757											
PABPC5	0	.	GRCh38	chrX	91436142	91436142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccagaagagcgggcggctGaggtcagaaccagggataga	12	4	16	9	2	1	5	1	1	0	4	2	6	2	6	2	4	2	1	2	4	3	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.565G>A	p.Glu189Lys	p.E189K	ENST00000312600	2/2	236	185	51	184	184	0	strelka-varscan-mutect	PABPC5,missense_variant,p.Glu189Lys,ENST00000312600,NM_080832.2;PABPC5,missense_variant,p.Glu25Lys,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;	A	ENST00000312600	Transcript	missense_variant	779/3221	565/1149	189/382	E/K	Gag/Aag		1		1	PABPC5	HGNC	HGNC:13629	protein_coding	YES	CCDS14460.1	ENSP00000308012	Q96DU9		UPI0000087790	NM_080832.2	tolerated(0.32)		2/2		Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01628																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	91436142	91436142	G	A	1	0	0	0	0	1	0	0	0	11445	1291	45	3		3	PABPC5	23	91436142	Missense_Mutation	SNP	G	C3N-00294_TP	5059298	91436142	64604753	1256	14758											
PABPC5	0	.	GRCh38	chrX	91436615	91436615	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaggatttggtgtggtCtgcttttcctcttttgaaga	7	16	12	6	0	2	2	0	1	2	1	3	3	3	3	1	4	1	2	1	4	2	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1038C>A	p.=	p.V346V	ENST00000312600	2/2	235	113	122	214	214	0	strelka-varscan-mutect	PABPC5,synonymous_variant,p.=,ENST00000312600,NM_080832.2;PABPC5,synonymous_variant,p.=,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;	A	ENST00000312600	Transcript	synonymous_variant	1252/3221	1038/1149	346/382	V	gtC/gtA		1		1	PABPC5	HGNC	HGNC:13629	protein_coding	YES	CCDS14460.1	ENSP00000308012	Q96DU9		UPI0000087790	NM_080832.2			2/2		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628																	LOW	1	SNV	1			1										PASS		rs1400539871	.												A	2	1	46	91436615	91436615	C	A	1	0	0	0	0	0	0	0	1	11445	900	32	2		2	PABPC5	23	91436615	Silent	SNP	C	C3N-00294_TP	473	91436615	64604280	1257	14759											
NOX1	0	.	GRCh38	chrX	100862535	100862535	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgtcatgatcactccagtGagaccagcaatgctggtgaa	12	10	10	9	0	2	3	2	3	0	1	3	4	3	3	2	1	2	2	2	1	2	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.528C>T	p.=	p.L176L	ENST00000372966	6/13	73	51	22	50	50	0	strelka-mutect	NOX1,synonymous_variant,p.=,ENST00000372966,NM_007052.4;NOX1,synonymous_variant,p.=,ENST00000372960,NM_001271815.1;NOX1,synonymous_variant,p.=,ENST00000217885,NM_013955.2;NOX1,intron_variant,,ENST00000372964,;	A	ENST00000372966	Transcript	synonymous_variant	734/2529	528/1695	176/564	L	ctC/ctT		1		-1	NOX1	HGNC	HGNC:7889	protein_coding	YES	CCDS14474.1	ENSP00000362057	Q9Y5S8		UPI00001303C1	NM_007052.4			6/13		hmmpanther:PTHR11972:SF71,hmmpanther:PTHR11972,Pfam_domain:PF01794,Prints_domain:PR00466,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	46	100862535	100862535	G	A	1	0	0	0	0	0	0	0	1	10602	1277	45	3		3	NOX1	23	100862535	Silent	SNP	G	C3N-00294_TP	9425920	100862535	55178360	1258	14760											
CENPI	0	.	GRCh38	chrX	101102364	101102364	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagaatgggttagcttCagaagaaattgatattctat	14	14	10	3	0	2	4	1	1	1	3	2	5	2	5	0	2	1	2	0	2	7	7	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.317C>A	p.Ser106Ter	p.S106*	ENST00000372927	3/21	59	39	20	68	68	0	strelka-varscan-mutect	CENPI,stop_gained,p.Ser106Ter,ENST00000372927,;CENPI,stop_gained,p.Ser106Ter,ENST00000372926,;CENPI,stop_gained,p.Ser106Ter,ENST00000423383,NM_006733.2;CENPI,downstream_gene_variant,,ENST00000403304,;CENPI,downstream_gene_variant,,ENST00000435570,;	A	ENST00000372927	Transcript	stop_gained	594/3262	317/2271	106/756	S/*	tCa/tAa		1		1	CENPI	HGNC	HGNC:3968	protein_coding	YES	CCDS14479.1	ENSP00000362018	Q92674	A0A024RCG4	UPI000004A007				3/21		Pfam_domain:PF07778																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	46	101102364	101102364	C	A	1	0	0	0	0	0	1	0	0	2941	838	29	2		2	CENPI	23	101102364	Nonsense_Mutation	SNP	C	C3N-00294_TP	239829	101102364	54938531	1259	14761											
MORF4L2	0	.	GRCh38	chrX	103676812	103676812	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttctttctggtcttcctCacggatcctgaaggggggtt	4	16	12	9	1	4	1	1	1	3	0	6	2	6	2	2	5	0	2	2	5	1	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.216G>A	p.=	p.V72V	ENST00000422154	4/4	187	130	57	117	117	0	strelka-varscan-mutect	MORF4L2,synonymous_variant,p.=,ENST00000422154,NM_001142418.1,NM_012286.2,NM_001142423.1,NM_001142424.1,NM_001142429.1,NM_001142425.1;MORF4L2,synonymous_variant,p.=,ENST00000433176,NM_001142421.1,NM_001142428.1,NM_001142419.1,NM_001142431.1,NM_001142422.1,NM_001142420.1,NM_001142427.1,NM_001142432.1;MORF4L2,synonymous_variant,p.=,ENST00000451301,NM_001142430.1,NM_001142426.1;MORF4L2,synonymous_variant,p.=,ENST00000441076,;MORF4L2,synonymous_variant,p.=,ENST00000360458,;MORF4L2,synonymous_variant,p.=,ENST00000434230,;MORF4L2,synonymous_variant,p.=,ENST00000442614,;MORF4L2,synonymous_variant,p.=,ENST00000418819,;MORF4L2,synonymous_variant,p.=,ENST00000423833,;MORF4L2,downstream_gene_variant,,ENST00000422355,;MORF4L2,non_coding_transcript_exon_variant,,ENST00000492116,;MORF4L2,downstream_gene_variant,,ENST00000474653,;MORF4L2,downstream_gene_variant,,ENST00000498064,;MORF4L2,downstream_gene_variant,,ENST00000467755,;	T	ENST00000422154	Transcript	synonymous_variant	671/1983	216/867	72/288	V	gtG/gtA		1		-1	MORF4L2	HGNC	HGNC:16849	protein_coding	YES	CCDS14512.1	ENSP00000394417	Q15014		UPI000012F567	NM_001142418.1,NM_012286.2,NM_001142423.1,NM_001142424.1,NM_001142429.1,NM_001142425.1			4/4		hmmpanther:PTHR10880,hmmpanther:PTHR10880:SF25																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	46	103676812	103676812	C	T	1	0	0	0	0	0	0	0	1	9670	813	29	3		3	MORF4L2	23	103676812	Silent	SNP	C	C3N-00294_TP	2574448	103676812	52364083	1260	14762											
FAM199X	0	.	GRCh38	chrX	104186544	104186544	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atattattaagatcattgatCcttctgctcaaatctcccct	11	16	3	11	0	4	2	2	1	2	1	6	2	5	2	3	0	1	1	3	0	4	5	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.652C>G	p.Pro218Ala	p.P218A	ENST00000493442	4/6	91	79	12	109	109	0	strelka-varscan-mutect	FAM199X,missense_variant,p.Pro218Ala,ENST00000493442,NM_207318.3;FAM199X,non_coding_transcript_exon_variant,,ENST00000299906,;	G	ENST00000493442	Transcript	missense_variant	818/7457	652/1167	218/388	P/A	Cct/Gct		1		1	FAM199X	HGNC	HGNC:25195	protein_coding	YES	CCDS35364.1	ENSP00000417581	Q6PEV8	B0QYU2	UPI00001C2069	NM_207318.3	deleterious(0)		4/6		Pfam_domain:PF15814,hmmpanther:PTHR32003,hmmpanther:PTHR32003:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	104186544	104186544	C	G	1	0	0	0	0	1	0	0	0	5377	855	30	4		4	FAM199X	23	104186544	Missense_Mutation	SNP	C	C3N-00294_TP	509732	104186544	51854351	1261	14763											
CAPN6	0	.	GRCh38	chrX	111247956	111247956	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggtagccacgagccaggttCcagcaggacattttgggcat	9	8	14	10	1	0	0	0	0	0	0	1	2	1	1	3	4	3	4	3	4	1	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1521G>A	p.Trp507Ter	p.W507*	ENST00000324068	11/13	189	172	17	129	129	0	strelka-varscan-mutect	CAPN6,stop_gained,p.Trp507Ter,ENST00000324068,NM_014289.3;	T	ENST00000324068	Transcript	stop_gained	1689/3568	1521/1926	507/641	W/*	tgG/tgA		1		-1	CAPN6	HGNC	HGNC:1483	protein_coding	YES	CCDS14555.1	ENSP00000317214	Q9Y6Q1		UPI0000126EA1	NM_014289.3			11/13		hmmpanther:PTHR10183:SF281,hmmpanther:PTHR10183																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	46	111247956	111247956	C	T	1	0	0	0	0	0	1	0	0	2324	856	30	3		3	CAPN6	23	111247956	Nonsense_Mutation	SNP	C	C3N-00294_TP	7061412	111247956	44792939	1262	14764											
RNF113A	0	.	GRCh38	chrX	119870767	119870767	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcagtgcacagctctCgcagaaataatgcctgcact	11	9	9	12	1	1	1	0	0	1	1	2	1	1	1	1	0	6	6	1	0	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.847G>T	p.Glu283Ter	p.E283*	ENST00000371442	1/1	157	121	36	121	121	0	strelka-varscan-mutect	RNF113A,stop_gained,p.Glu283Ter,ENST00000371442,NM_006978.2;NDUFA1,upstream_gene_variant,,ENST00000371437,NM_004541.3;	A	ENST00000371442	Transcript	stop_gained	1061/1353	847/1032	283/343	E/*	Gag/Tag		1		-1	RNF113A	HGNC	HGNC:12974	protein_coding	YES	CCDS14589.1	ENSP00000360497	O15541		UPI000013C310	NM_006978.2			1/1		PROSITE_profiles:PS50089,hmmpanther:PTHR12930:SF2,hmmpanther:PTHR12930,PROSITE_patterns:PS00518,Pfam_domain:PF13920,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850																	HIGH		SNV				1										PASS		.	.												A	4	1	46	119870767	119870767	C	A	1	0	0	0	0	0	1	0	0	13605	893	31	1		1	RNF113A	23	119870767	Nonsense_Mutation	SNP	C	C3N-00294_TP	8622811	119870767	36170128	1263	14765											
GRIA3	0	.	GRCh38	chrX	123428016	123428016	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcttcctatactgccaaTctcgctgctttcctgactgt	6	17	5	13	1	2	1	0	1	2	0	5	1	4	1	3	0	3	2	3	0	3	5	novel		C3N-00294_TP	C3N-00294_NB	T	T																c.1953T>A	p.Asn651Lys	p.N651K	ENST00000622768	12/16	266	174	92	159	159	0	strelka-varscan-mutect	GRIA3,missense_variant,p.Asn651Lys,ENST00000622768,NM_000828.4;GRIA3,missense_variant,p.Asn651Lys,ENST00000620443,NM_007325.4;GRIA3,missense_variant,p.Asn651Lys,ENST00000620581,;GRIA3,missense_variant,p.Asn651Lys,ENST00000541091,;	A	ENST00000622768	Transcript	missense_variant	2246/5173	1953/2685	651/894	N/K	aaT/aaA		1		1	GRIA3	HGNC	HGNC:4573	protein_coding	YES	CCDS14604.1	ENSP00000481554	P42263		UPI000013D503	NM_000828.4	deleterious(0.01)		12/16		Gene3D:1.10.287.70,Pfam_domain:PF00060,Prints_domain:PR00177,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF151,SMART_domains:SM00079,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	46	123428016	123428016	T	A	1	0	0	0	0	1	0	0	0	6649	1432	50	4		4	GRIA3	23	123428016	Missense_Mutation	SNP	T	C3N-00294_TP	3557249	123428016	32612879	1264	14766											
TEX13C	0	.	GRCh38	chrX	125321896	125321896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccacagtctgaagaaagatCcaatgatgcaccaggagatg	15	6	11	9	0	1	5	0	2	1	3	2	6	2	5	3	1	1	1	3	1	3	0	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1777C>T	p.Pro593Ser	p.P593S	ENST00000632600	1/1	408	286	122	276	276	0	strelka-varscan-mutect	TEX13C,missense_variant,p.Pro593Ser,ENST00000632600,NM_001195272.1;	T	ENST00000632600	Transcript	missense_variant	1777/5095	1777/2982	593/993	P/S	Cca/Tca		1		1	TEX13C	HGNC	HGNC:52277	protein_coding	YES		ENSP00000488022	A0A0J9YWL9		UPI000016014C	NM_001195272.1	tolerated(0.64)		1/1																			MODERATE	1	SNV				1										PASS		.	.												T	3	4	46	125321896	125321896	C	T	1	0	0	0	0	1	0	0	0	16199	855	30	3		3	TEX13C	23	125321896	Missense_Mutation	SNP	C	C3N-00294_TP	1893880	125321896	30718999	1265	14767											
SLC9A6	0	.	GRCh38	chrX	136044480	136044480	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagttgaaagatgatgattCtgatcttattctcaatgatg	13	15	8	5	0	3	6	1	5	3	1	4	6	3	6	0	0	0	1	0	0	3	4	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.1862C>G	p.Ser621Cys	p.S621C	ENST00000370695	16/16	112	79	33	87	87	0	strelka-varscan-mutect	SLC9A6,missense_variant,p.Ser569Cys,ENST00000637581,;SLC9A6,missense_variant,p.Ser569Cys,ENST00000636347,;SLC9A6,missense_variant,p.Ser537Cys,ENST00000637195,;SLC9A6,missense_variant,p.Ser569Cys,ENST00000370701,NM_001177651.1;SLC9A6,missense_variant,p.Ser621Cys,ENST00000370695,NM_001042537.1;SLC9A6,missense_variant,p.Ser90Cys,ENST00000636206,;SLC9A6,missense_variant,p.Ser569Cys,ENST00000636092,;SLC9A6,missense_variant,p.Ser569Cys,ENST00000637234,;SLC9A6,missense_variant,p.Ser589Cys,ENST00000370698,NM_006359.2;SLC9A6,missense_variant,p.Ser148Cys,ENST00000630721,;SLC9A6,downstream_gene_variant,,ENST00000638078,;SLC9A6,non_coding_transcript_exon_variant,,ENST00000636798,;SLC9A6,non_coding_transcript_exon_variant,,ENST00000636625,;SLC9A6,downstream_gene_variant,,ENST00000626147,;	G	ENST00000370695	Transcript	missense_variant	1938/4725	1862/2106	621/701	S/C	tCt/tGt		1		1	SLC9A6	HGNC	HGNC:11079	protein_coding	YES	CCDS44003.1	ENSP00000359729	Q92581		UPI0000062320	NM_001042537.1	deleterious(0)		16/16		Prints_domain:PR01088,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF94,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	136044480	136044480	C	G	1	0	0	0	0	1	0	0	0	15000	913	32	4		4	SLC9A6	23	136044480	Missense_Mutation	SNP	C	C3N-00294_TP	10722584	136044480	19996415	1266	14768											
HTATSF1	0	.	GRCh38	chrX	136511263	136511263	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaaagagtctaaaaagaaGacactcaaaaatgattgtga	23	7	7	4	0	2	5	1	2	1	3	2	5	2	5	0	0	0	0	0	0	9	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1518G>C	p.Lys506Asn	p.K506N	ENST00000535601	10/10	106	87	19	80	80	0	strelka-varscan-mutect	HTATSF1,missense_variant,p.Lys506Asn,ENST00000535601,NM_001163280.1;HTATSF1,missense_variant,p.Lys506Asn,ENST00000218364,NM_014500.4;	C	ENST00000535601	Transcript	missense_variant	1940/3019	1518/2268	506/755	K/N	aaG/aaC		1		1	HTATSF1	HGNC	HGNC:5276	protein_coding	YES	CCDS14657.1	ENSP00000442699	O43719		UPI000006D876	NM_001163280.1	deleterious_low_confidence(0)		10/10		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	136511263	136511263	G	C	1	0	0	0	0	1	0	0	0	7329	933	33	4		4	HTATSF1	23	136511263	Missense_Mutation	SNP	G	C3N-00294_TP	466783	136511263	19529632	1267	14769											
SLITRK4	0	.	GRCh38	chrX	143628877	143628877	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaataattcatccagctcAtcaattgtgctcagtctctt	10	14	7	10	0	5	0	4	0	1	0	7	1	6	1	1	1	2	2	1	1	3	4	novel		C3N-00294_TP	C3N-00294_NB	A	A																c.2232T>A	p.Asp744Glu	p.D744E	ENST00000596188	2/2	97	44	53	96	96	0	strelka-varscan-mutect	SLITRK4,missense_variant,p.Asp744Glu,ENST00000596188,NM_001184750.2;SLITRK4,missense_variant,p.Asp744Glu,ENST00000338017,NM_173078.4;SLITRK4,missense_variant,p.Asp744Glu,ENST00000356928,NM_001184749.2;	T	ENST00000596188	Transcript	missense_variant	2458/8545	2232/2514	744/837	D/E	gaT/gaA		1		-1	SLITRK4	HGNC	HGNC:23502	protein_coding	YES	CCDS14679.1	ENSP00000469205	Q8IW52		UPI000004E650	NM_001184750.2	tolerated(1)		2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	143628877	143628877	A	T	1	0	0	0	0	1	0	0	0	15036	214	8	4		4	SLITRK4	23	143628877	Missense_Mutation	SNP	A	C3N-00294_TP	7117614	143628877	12412018	1268	14770											
SPANXN1	0	.	GRCh38	chrX	145247650	145247650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccctgtgaatccaacaatGaaaatgatgaggtaagattg	15	9	10	7	0	0	5	0	4	0	1	1	5	1	5	3	1	1	1	3	1	6	2	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.64G>A	p.Glu22Lys	p.E22K	ENST00000370493	1/2	177	129	48	111	111	0	strelka-varscan-mutect	SPANXN1,missense_variant,p.Glu22Lys,ENST00000370493,NM_001009614.2;	A	ENST00000370493	Transcript	missense_variant	823/1276	64/219	22/72	E/K	Gaa/Aaa		1		1	SPANXN1	HGNC	HGNC:33174	protein_coding	YES	CCDS35421.1	ENSP00000359524	Q5VSR9		UPI0000458AF7	NM_001009614.2	tolerated(1)		1/2		Pfam_domain:PF07458,hmmpanther:PTHR23425,hmmpanther:PTHR23425:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	145247650	145247650	G	A	1	0	0	0	0	1	0	0	0	15321	1291	45	3		3	SPANXN1	23	145247650	Missense_Mutation	SNP	G	C3N-00294_TP	1618773	145247650	10793245	1269	14771											
GPR50	0	.	GRCh38	chrX	151181367	151181367	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaccctactgtagtcactaCcagtaccaatgattaccatg	12	11	6	12	0	1	2	1	2	0	0	1	2	1	2	4	0	4	2	4	0	6	5			C3N-00294_TP	C3N-00294_NB	C	C																c.1784C>A	p.Thr595Asn	p.T595N	ENST00000218316	2/2	65	40	25	58	58	0	strelka-varscan-mutect	GPR50,missense_variant,p.Thr595Asn,ENST00000218316,NM_004224.3;AF003625.3,upstream_gene_variant,,ENST00000602313,;GPR50-AS1,upstream_gene_variant,,ENST00000454196,;	A	ENST00000218316	Transcript	missense_variant	1853/1951	1784/1854	595/617	T/N	aCc/aAc	COSM311585	1		1	GPR50	HGNC	HGNC:4506	protein_coding	YES	CCDS44012.1	ENSP00000218316	Q13585		UPI000013C755	NM_004224.3	deleterious_low_confidence(0.03)		2/2													1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	46	151181367	151181367	C	A	1	0	0	0	0	1	0	0	0	6582	507	18	2		2	GPR50	23	151181367	Missense_Mutation	SNP	C	C3N-00294_TP	5933717	151181367	4859528	1270	14772											
MAGEA12	0	.	GRCh38	chrX	152736561	152736561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagccattcacaaaggcaGaaatgctggggagtgtcatc	12	7	14	8	0	2	1	2	0	0	1	3	3	2	3	1	4	2	2	1	4	2	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.400G>C	p.Glu134Gln	p.E134Q	ENST00000393900	3/3	242	171	71	179	179	0	strelka-varscan-mutect	MAGEA12,missense_variant,p.Glu134Gln,ENST00000393900,NM_001166386.3;MAGEA12,missense_variant,p.Glu134Gln,ENST00000393869,NM_001166387.3;MAGEA12,missense_variant,p.Glu134Gln,ENST00000357916,NM_005367.6;CSAG1,upstream_gene_variant,,ENST00000370291,;CSAG1,upstream_gene_variant,,ENST00000370287,NM_153478.2;CSAG1,upstream_gene_variant,,ENST00000452779,NM_001102576.2;CSAG4,intron_variant,,ENST00000361201,;CSAG1,upstream_gene_variant,,ENST00000361211,;CSAG4,upstream_gene_variant,,ENST00000583763,;	C	ENST00000393900	Transcript	missense_variant	754/1853	400/945	134/314	E/Q	Gaa/Caa		1		1	MAGEA12	HGNC	HGNC:6799	protein_coding	YES	CCDS76048.1	ENSP00000377478	P43365	Q6FHH8	UPI0000000C51	NM_001166386.3	deleterious(0)		3/3		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF74,Pfam_domain:PF01454,SMART_domains:SM01373																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	152736561	152736561	G	C	1	0	0	0	0	1	0	0	0	9082	943	33	4		4	MAGEA12	23	152736561	Missense_Mutation	SNP	G	C3N-00294_TP	1555194	152736561	3304334	1271	14773											
PNMA5	0	.	GRCh38	chrX	152991022	152991022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgccgcctcttctccacctCagacacttgccatatgggca	8	9	7	17	2	3	1	1	0	2	1	4	1	3	1	5	1	1	1	5	1	1	3	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.577G>A	p.Glu193Lys	p.E193K	ENST00000439251	2/2	46	34	12	29	29	0	strelka-varscan-mutect	PNMA5,missense_variant,p.Glu193Lys,ENST00000439251,NM_001103150.1;PNMA5,missense_variant,p.Glu193Lys,ENST00000535214,NM_001184924.1;PNMA5,missense_variant,p.Glu193Lys,ENST00000361887,NM_052926.2;PNMA5,missense_variant,p.Glu193Lys,ENST00000452693,NM_001103151.1;PNMA5,downstream_gene_variant,,ENST00000437210,;	T	ENST00000439251	Transcript	missense_variant	1016/3213	577/1347	193/448	E/K	Gag/Aag		1		-1	PNMA5	HGNC	HGNC:18743	protein_coding	YES	CCDS14718.1	ENSP00000388850	Q96PV4		UPI0000070F7D	NM_001103150.1	deleterious(0)		2/2		Pfam_domain:PF14893,hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	152991022	152991022	C	T	1	0	0	0	0	1	0	0	0	12263	835	29	3		3	PNMA5	23	152991022	Missense_Mutation	SNP	C	C3N-00294_TP	254461	152991022	3049873	1272	14774											
BGN	0	.	GRCh38	chrX	153508310	153508321	+	In_Frame_Del	DEL	CTTCGGGGTGAA	CTTCGGGGTGAA	-																															aacgacttctgtcccatgggCttcggggtgaagcgggccta																								novel		C3N-00294_TP	C3N-00294_NB	CTTCGGGGTGAA	CTTCGGGGTGAA																c.972_983delCTTCGGGGTGAA	p.Phe325_Lys328del	p.F325_K328del	ENST00000331595	8/8	137	77	60	176	176	0	sindel-varindel-pindel	BGN,inframe_deletion,p.Phe325_Lys328del,ENST00000331595,NM_001711.4;BGN,downstream_gene_variant,,ENST00000431891,;BGN,non_coding_transcript_exon_variant,,ENST00000480756,;BGN,non_coding_transcript_exon_variant,,ENST00000472615,;BGN,intron_variant,,ENST00000492658,;	-	ENST00000331595	Transcript	inframe_deletion	1158-1169/2402	972-983/1107	324-328/368	GFGVK/G	ggCTTCGGGGTGAAg/ggg		1		1	BGN	HGNC	HGNC:1044	protein_coding	YES	CCDS14721.1	ENSP00000327336	P21810		UPI000003BDBA	NM_001711.4			8/8		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF6,PIRSF_domain:PIRSF002490,Superfamily_domains:SSF52058																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	46	153508310	153508310	CTTCGGGGTGAA	-	1	0	1	0	1	0	0	0	0	1566	784	28	0		0	BGN	23	153508310	In_Frame_Del	DEL	CTTCGGGGTGAA	C3N-00294_TP	517288	153508310	2532585	1273	14775											
SLC6A8	0	.	GRCh38	chrX	153688739	153688739	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgccgccgcgcgagacctgGacgcgccagatggacttcat	7	6	14	14	6	1	2	1	0	0	2	1	5	1	4	4	2	1	0	4	2	0	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.165G>A	p.Trp55Ter	p.W55*	ENST00000253122	1/13	161	124	37	81	81	0	strelka-varscan-mutect	SLC6A8,stop_gained,p.Trp55Ter,ENST00000253122,NM_001142805.1,NM_005629.3;PNCK,intron_variant,,ENST00000458354,;SLC6A8,upstream_gene_variant,,ENST00000430077,NM_001142806.1;PNCK,upstream_gene_variant,,ENST00000425526,;PNCK,upstream_gene_variant,,ENST00000419804,;SLC6A8,upstream_gene_variant,,ENST00000442457,;SLC6A8,upstream_gene_variant,,ENST00000413787,;PNCK,upstream_gene_variant,,ENST00000423545,;SLC6A8,upstream_gene_variant,,ENST00000429147,;SLC6A8,upstream_gene_variant,,ENST00000457723,;SLC6A8,non_coding_transcript_exon_variant,,ENST00000476466,;PNCK,intron_variant,,ENST00000480693,;SLC6A8,upstream_gene_variant,,ENST00000485324,;PNCK,upstream_gene_variant,,ENST00000473831,;PNCK,upstream_gene_variant,,ENST00000460106,;SLC6A8,upstream_gene_variant,,ENST00000466243,;PNCK,upstream_gene_variant,,ENST00000484705,;SLC6A8,upstream_gene_variant,,ENST00000467402,;PNCK,upstream_gene_variant,,ENST00000488994,;	A	ENST00000253122	Transcript	stop_gained	641/3763	165/1908	55/635	W/*	tgG/tgA		1		1	SLC6A8	HGNC	HGNC:11055	protein_coding	YES	CCDS14726.1	ENSP00000253122	P48029	X5D9C4	UPI00001354A0	NM_001142805.1,NM_005629.3			1/13		PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF96,Pfam_domain:PF00209,Superfamily_domains:0053687																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	46	153688739	153688739	G	A	1	0	0	0	0	0	1	0	0	14973	1183	41	3		3	SLC6A8	23	153688739	Nonsense_Mutation	SNP	G	C3N-00294_TP	180429	153688739	2352156	1274	14776											
IRAK1	0	.	GRCh38	chrX	154019251	154019251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccgggggctccaggcctCggcctcggcgggtgcaggga	3	6	18	14	4	0	0	0	0	0	0	4	1	2	1	4	7	1	2	4	7	0	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.382G>A	p.Glu128Lys	p.E128K	ENST00000369980	3/14	77	52	25	72	72	0	strelka-varscan-mutect	IRAK1,missense_variant,p.Glu128Lys,ENST00000369980,NM_001569.3;IRAK1,missense_variant,p.Glu128Lys,ENST00000369974,NM_001025243.1;IRAK1,missense_variant,p.Glu154Lys,ENST00000429936,;IRAK1,missense_variant,p.Glu128Lys,ENST00000393687,NM_001025242.1;IRAK1,missense_variant,p.Glu124Lys,ENST00000444230,;MECP2,downstream_gene_variant,,ENST00000303391,NM_004992.3;IRAK1,upstream_gene_variant,,ENST00000443220,;IRAK1,upstream_gene_variant,,ENST00000437278,;IRAK1,upstream_gene_variant,,ENST00000455690,;IRAK1,downstream_gene_variant,,ENST00000390190,;IRAK1,upstream_gene_variant,,ENST00000477274,;IRAK1,upstream_gene_variant,,ENST00000467236,;IRAK1,missense_variant,p.Glu154Lys,ENST00000369973,;IRAK1,upstream_gene_variant,,ENST00000463031,;	T	ENST00000369980	Transcript	missense_variant	550/3666	382/2139	128/712	E/K	Gag/Aag		1		-1	IRAK1	HGNC	HGNC:6112	protein_coding	YES	CCDS14740.1	ENSP00000358997	P51617		UPI000012D873	NM_001569.3	tolerated(0.74)		3/14		Low_complexity_(Seg):seg,hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	46	154019251	154019251	C	T	1	0	0	0	0	1	0	0	0	7727	893	31	1		1	IRAK1	23	154019251	Missense_Mutation	SNP	C	C3N-00294_TP	330512	154019251	2021644	1275	14777											
PLXNA3	0	.	GRCh38	chrX	154465811	154465811	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactggatgcacctgagccaGaagggcacccggtgcagcca	11	4	13	13	1	0	2	0	1	0	1	0	3	0	3	4	3	5	3	4	3	2	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2496G>C	p.Gln832His	p.Q832H	ENST00000369682	13/33	93	65	28	67	66	1	strelka-varscan-mutect	PLXNA3,missense_variant,p.Gln832His,ENST00000369682,NM_017514.4;PLXNA3,upstream_gene_variant,,ENST00000493546,;PLXNA3,downstream_gene_variant,,ENST00000495040,;PLXNA3,upstream_gene_variant,,ENST00000467463,;PLXNA3,upstream_gene_variant,,ENST00000480645,;PLXNA3,upstream_gene_variant,,ENST00000491066,;PLXNA3,upstream_gene_variant,,ENST00000478236,;PLXNA3,downstream_gene_variant,,ENST00000482598,;	C	ENST00000369682	Transcript	missense_variant	2671/10885	2496/5616	832/1871	Q/H	caG/caC		1		1	PLXNA3	HGNC	HGNC:9101	protein_coding	YES	CCDS14752.1	ENSP00000358696	P51805		UPI0002AB801F	NM_017514.4	tolerated(0.15)		13/33		hmmpanther:PTHR22625:SF32,hmmpanther:PTHR22625,Gene3D:3.30.1680.10,SMART_domains:SM00423																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	46	154465811	154465811	G	C	1	0	0	0	0	1	0	0	0	12227	933	33	4		4	PLXNA3	23	154465811	Missense_Mutation	SNP	G	C3N-00294_TP	446560	154465811	1575084	1276	14778											
MPP1	0	.	GRCh38	chrX	154786234	154786234	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctcaggggaagggatcaatCctgctgactccttggaggag	9	8	15	9	0	2	1	2	1	0	0	4	5	4	5	2	5	1	2	2	5	2	1	novel		C3N-00294_TP	C3N-00294_NB	C	C																c.647G>C	p.Gly216Ala	p.G216A	ENST00000369534	6/12	96	75	21	63	63	0	strelka-varscan-mutect	MPP1,missense_variant,p.Gly186Ala,ENST00000413259,NM_001166462.1;MPP1,missense_variant,p.Gly216Ala,ENST00000369534,NM_001166460.1,NM_002436.3;MPP1,missense_variant,p.Gly196Ala,ENST00000393531,NM_001166461.1;MPP1,missense_variant,p.Gly170Ala,ENST00000393529,;MPP1,missense_variant,p.Gly90Ala,ENST00000453245,;MPP1,missense_variant,p.Gly113Ala,ENST00000428488,;MPP1,downstream_gene_variant,,ENST00000369531,;MPP1,non_coding_transcript_exon_variant,,ENST00000462825,;MPP1,non_coding_transcript_exon_variant,,ENST00000488754,;MPP1,downstream_gene_variant,,ENST00000488694,;MPP1,3_prime_UTR_variant,,ENST00000439370,;MPP1,3_prime_UTR_variant,,ENST00000417435,;MPP1,non_coding_transcript_exon_variant,,ENST00000475943,;MPP1,intron_variant,,ENST00000494170,;MPP1,upstream_gene_variant,,ENST00000491955,;MPP1,upstream_gene_variant,,ENST00000482757,;MPP1,upstream_gene_variant,,ENST00000493871,;	G	ENST00000369534	Transcript	missense_variant	795/2042	647/1401	216/466	G/A	gGa/gCa		1		-1	MPP1	HGNC	HGNC:7219	protein_coding	YES	CCDS14762.1	ENSP00000358547	Q00013		UPI0000129E86	NM_001166460.1,NM_002436.3	deleterious(0)		6/12		PROSITE_profiles:PS50002,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF37,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	46	154786234	154786234	C	G	1	0	0	0	0	1	0	0	0	9699	855	30	4		4	MPP1	23	154786234	Missense_Mutation	SNP	C	C3N-00294_TP	320423	154786234	1254661	1277	14779											
F8	0	.	GRCh38	chrX	154904932	154904932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggcttgacaaagttttttCtaggttctgctccttgcctc	6	17	8	10	0	2	1	0	1	2	0	4	1	3	1	2	2	2	4	2	2	3	8			C3N-00294_TP	C3N-00294_NB	C	C																c.5465G>C	p.Arg1822Thr	p.R1822T	ENST00000360256	16/26	184	137	47	152	152	0	strelka-varscan-mutect	F8,missense_variant,p.Arg1822Thr,ENST00000360256,NM_000132.3;EEF1A1P31,downstream_gene_variant,,ENST00000415978,;	G	ENST00000360256	Transcript	missense_variant	5666/9059	5465/7056	1822/2351	R/T	aGa/aCa	CM125452	1		-1	F8	HGNC	HGNC:3546	protein_coding	YES	CCDS35457.1	ENSP00000353393	P00451		UPI000012A416	NM_000132.3	deleterious(0.02)		16/26		Gene3D:2.60.40.420,PIRSF_domain:PIRSF000354,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF50,Superfamily_domains:SSF49503																	MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	46	154904932	154904932	C	G	1	0	0	0	0	1	0	0	0	5218	913	32	4		4	F8	23	154904932	Missense_Mutation	SNP	C	C3N-00294_TP	118698	154904932	1135963	1278	14780											
F8	0	.	GRCh38	chrX	154966081	154966081	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtatgccataaatcggacTtttttgtacttcctaccaat	10	16	6	9	1	0	0	0	0	0	0	2	1	1	1	3	1	3	2	3	1	6	8			C3N-00294_TP	C3N-00294_NB	T	T																c.1332A>G	p.=	p.K444K	ENST00000360256	9/26	139	130	9	91	91	0	strelka-varscan-mutect	F8,synonymous_variant,p.=,ENST00000360256,NM_000132.3;F8,non_coding_transcript_exon_variant,,ENST00000483822,;	C	ENST00000360256	Transcript	synonymous_variant	1533/9059	1332/7056	444/2351	K	aaA/aaG	CD982641,CM053241,CM0911142,CX067269,COSM4108246,COSM4108247	1		-1	F8	HGNC	HGNC:3546	protein_coding	YES	CCDS35457.1	ENSP00000353393	P00451		UPI000012A416	NM_000132.3			9/26		Gene3D:2.60.40.420,PIRSF_domain:PIRSF000354,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF50,Superfamily_domains:SSF49503											0,0,0,0,1,1						LOW	1	SNV	1		1,1,1,1,1,1	1										PASS		.	.												C	2	2	46	154966081	154966081	T	C	1	0	0	0	0	0	0	0	1	5218	1606	56	5		5	F8	23	154966081	Silent	SNP	T	C3N-00294_TP	61149	154966081	1074814	1279	14781											
USP9Y	0	.	GRCh38	chrY	12773653	12773653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatatggaagtgcttagcaGaaaatgcagtttatctttgt	14	14	9	4	0	1	1	0	0	1	1	1	2	1	2	0	1	3	4	0	1	7	5	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.2059G>A	p.Glu687Lys	p.E687K	ENST00000338981	17/46	186	120	66	235	235	0	strelka-varscan-mutect	USP9Y,missense_variant,p.Glu687Lys,ENST00000338981,NM_004654.3;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,;	A	ENST00000338981	Transcript	missense_variant	3004/10036	2059/7668	687/2555	E/K	Gaa/Aaa		1		1	USP9Y	HGNC	HGNC:12633	protein_coding	YES	CCDS14781.1	ENSP00000342812	O00507		UPI00001AE67D	NM_004654.3	deleterious(0.05)		17/46																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	12773653	12773653	G	A	1	0	0	0	0	1	0	0	0	17634	943	33	3		3	USP9Y	24	12773653	Missense_Mutation	SNP	G	C3N-00294_TP		12773653	44453762	1280	14782											
USP9Y	0	.	GRCh38	chrY	12840272	12840272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgcaaaatggatgatgatGaagaaatgaaaaatcagtgt	20	9	10	2	0	1	5	1	4	0	1	1	6	1	6	0	1	1	1	0	1	7	0	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.5746G>A	p.Glu1916Lys	p.E1916K	ENST00000338981	36/46	157	148	9	187	187	0	strelka-varscan-mutect	USP9Y,missense_variant,p.Glu1916Lys,ENST00000338981,NM_004654.3;USP9Y,non_coding_transcript_exon_variant,,ENST00000426564,;	A	ENST00000338981	Transcript	missense_variant	6691/10036	5746/7668	1916/2555	E/K	Gaa/Aaa		1		1	USP9Y	HGNC	HGNC:12633	protein_coding	YES	CCDS14781.1	ENSP00000342812	O00507		UPI00001AE67D	NM_004654.3	deleterious(0)		36/46		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF371,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	12840272	12840272	G	A	1	0	0	0	0	1	0	0	0	17634	1291	45	3		3	USP9Y	24	12840272	Missense_Mutation	SNP	G	C3N-00294_TP	66619	12840272	44387143	1281	14783											
RBMY1A1	0	.	GRCh38	chrY	21549017	21549017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtagatggtggggagagtcGatctgaaaaaggagactcga	14	7	16	4	2	1	4	0	1	1	3	3	8	1	4	0	4	0	1	0	4	3	1	novel		C3N-00294_TP	C3N-00294_NB	G	G																c.1460G>A	p.Arg487Gln	p.R487Q	ENST00000382707	12/12	41	33	8	64	63	1	varscan-mutect	RBMY1A1,missense_variant,p.Arg487Gln,ENST00000382707,NM_005058.2;RBMY1A1,missense_variant,p.Arg487Gln,ENST00000439108,;RBMY1A1,missense_variant,p.Arg450Gln,ENST00000303902,;RBMY1B,missense_variant,p.Arg450Gln,ENST00000619219,;RBMY1A1,3_prime_UTR_variant,,ENST00000361046,NM_001320945.1;	A	ENST00000382707	Transcript	missense_variant	1612/1921	1460/1491	487/496	R/Q	cGa/cAa		1		1	RBMY1A1	HGNC	HGNC:9912	protein_coding	YES	CCDS14796.1	ENSP00000372154	P0DJD3		UPI000011D6E5	NM_005058.2	deleterious(0.01)		12/12																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	46	21549017	21549017	G	A	1	0	0	0	0	1	0	0	0	13322	1058	37	1		1	RBMY1A1	24	21549017	Missense_Mutation	SNP	G	C3N-00294_TP	8708745	21549017	35678398	1282	14784											
CPSF3L	0	.	GRCh38	chr1	1319436	1319436	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatggggcagatggcctGggtggggtgagtcatgtaga	9	8	19	5	0	1	4	1	1	0	3	1	4	1	4	1	6	0	2	1	6	2	1	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.307C>T	p.Gln103Ter	p.Q103*	ENST00000540437	6/19	195	179	16	102	102	0	varscan-mutect	CPSF3L,stop_gained,p.Gln103Ter,ENST00000540437,NM_001256456.1;CPSF3L,stop_gained,p.Gln68Ter,ENST00000545578,NM_001256460.1;CPSF3L,stop_gained,p.Gln97Ter,ENST00000435064,NM_017871.5;CPSF3L,stop_gained,p.Gln97Ter,ENST00000450926,;CPSF3L,stop_gained,p.Gln97Ter,ENST00000618806,;CPSF3L,stop_gained,p.Gln97Ter,ENST00000429572,;CPSF3L,stop_gained,p.Gln97Ter,ENST00000434694,;CPSF3L,stop_gained,p.Gln144Ter,ENST00000530031,;CPSF3L,stop_gained,p.Gln103Ter,ENST00000527719,;CPSF3L,stop_gained,p.Gln157Ter,ENST00000498476,;CPSF3L,stop_gained,p.Gln98Ter,ENST00000534345,;CPSF3L,5_prime_UTR_variant,,ENST00000526332,;CPSF3L,intron_variant,,ENST00000421495,;CPSF3L,intron_variant,,ENST00000620829,NM_001256462.1;CPSF3L,intron_variant,,ENST00000411962,;CPSF3L,intron_variant,,ENST00000419704,NM_001256463.1;CPSF3L,downstream_gene_variant,,ENST00000627245,;RP5-890O3.9,upstream_gene_variant,,ENST00000444968,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000493534,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000532952,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000490853,;CPSF3L,upstream_gene_variant,,ENST00000462432,;CPSF3L,stop_gained,p.Gln97Ter,ENST00000528879,;CPSF3L,splice_region_variant,,ENST00000323275,;CPSF3L,splice_region_variant,,ENST00000526797,;CPSF3L,3_prime_UTR_variant,,ENST00000458452,;CPSF3L,3_prime_UTR_variant,,ENST00000527098,;CPSF3L,3_prime_UTR_variant,,ENST00000430786,;CPSF3L,3_prime_UTR_variant,,ENST00000531019,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000496353,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000498173,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000488042,;CPSF3L,non_coding_transcript_exon_variant,,ENST00000525603,;CPSF3L,intron_variant,,ENST00000532772,;CPSF3L,intron_variant,,ENST00000526113,;CPSF3L,intron_variant,,ENST00000526904,;CPSF3L,upstream_gene_variant,,ENST00000478641,;CPSF3L,upstream_gene_variant,,ENST00000470030,;CPSF3L,upstream_gene_variant,,ENST00000531377,;CPSF3L,upstream_gene_variant,,ENST00000531292,;CPSF3L,upstream_gene_variant,,ENST00000527383,;CPSF3L,upstream_gene_variant,,ENST00000467408,;CPSF3L,downstream_gene_variant,,ENST00000530233,;CPSF3L,downstream_gene_variant,,ENST00000470679,;CPSF3L,downstream_gene_variant,,ENST00000525285,;CPSF3L,upstream_gene_variant,,ENST00000531020,;CPSF3L,upstream_gene_variant,,ENST00000533916,;	A	ENST00000540437	Transcript	stop_gained	841/2629	307/1821	103/606	Q/*	Cag/Tag		1		-1	CPSF3L	HGNC	HGNC:26052	protein_coding	YES	CCDS57960.1	ENSP00000445001	Q5TA45		UPI0000EE7E27	NM_001256456.1			6/19		hmmpanther:PTHR11203:SF37,hmmpanther:PTHR11203,Pfam_domain:PF16661,Gene3D:3.60.15.10,SMART_domains:SM00849,Superfamily_domains:SSF56281																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	47	1319436	1319436	G	A	1	0	0	0	0	0	1	0	0	3623	1357	47	3		3	CPSF3L	1	1319436	Nonsense_Mutation	SNP	G	C3N-00433_TP		1319436	247636986	1	14785											
MEGF6	0	.	GRCh38	chr1	3509197	3509197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaatgtggggcaggggcCgcacgaaaggcagctcgccg	8	3	18	12	5	0	0	0	0	0	0	1	1	0	0	2	6	1	5	2	6	2	0	rs758378302		C3N-00433_TP	C3N-00433_NB	C	C																c.1406G>C	p.Arg469Pro	p.R469P	ENST00000356575	12/37	99	94	5	48	48	0	strelka-mutect	MEGF6,missense_variant,p.Arg469Pro,ENST00000356575,NM_001409.3;MEGF6,missense_variant,p.Arg364Pro,ENST00000294599,;MEGF6,missense_variant,p.Arg476Pro,ENST00000485002,;	G	ENST00000356575	Transcript	missense_variant	1633/5455	1406/4626	469/1541	R/P	cGg/cCg	rs758378302	1		-1	MEGF6	HGNC	HGNC:3232	protein_coding	YES	CCDS41237.1	ENSP00000348982	O75095		UPI0000DACACB	NM_001409.3	deleterious(0.04)		12/37		hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF106																	MODERATE	1	SNV	1			1										PASS		rs758378302	.												G	3	3	47	3509197	3509197	C	G	1	0	0	0	0	1	0	0	0	9402	652	23	4		4	MEGF6	1	3509197	Missense_Mutation	SNP	C	C3N-00433_TP	2189761	3509197	245447225	2	14786											
BTBD8	0	.	GRCh38	chr1	92102634	92102634	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcatgaaattccagaggAtatcagtgacagagatgatg	16	8	12	5	0	1	5	1	3	0	2	2	8	2	6	1	1	1	1	1	1	3	2	novel		C3N-00433_TP	C3N-00433_NB	A	A																c.509A>G	p.Asp170Gly	p.D170G	ENST00000342818	3/9	58	53	5	90	89	1	strelka-varscan-mutect	BTBD8,missense_variant,p.Asp170Gly,ENST00000636805,;BTBD8,missense_variant,p.Asp170Gly,ENST00000342818,NM_183242.3;BTBD8,missense_variant,p.Asp170Gly,ENST00000635934,;BTBD8,non_coding_transcript_exon_variant,,ENST00000370382,;	G	ENST00000342818	Transcript	missense_variant	745/1412	509/1137	170/378	D/G	gAt/gGt		1		1	BTBD8	HGNC	HGNC:21019	protein_coding	YES	CCDS737.1	ENSP00000343686	Q5XKL5		UPI000014114A	NM_183242.3	tolerated(0.16)		3/9		hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF34																	MODERATE	1	SNV	1			1										PASS		rs1223562373	.												G	3	3	47	92102634	92102634	A	G	1	0	0	0	0	1	0	0	0	1723	333	12	5		5	BTBD8	1	92102634	Missense_Mutation	SNP	A	C3N-00433_TP	88593437	92102634	156853788	3	14787											
VPS72	0	.	GRCh38	chr1	151176729	151176729	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgggccggggcccagggctGaggcagtgggcggcagtcca	5	3	21	12	3	0	1	0	1	0	0	1	1	1	1	3	7	0	3	3	7	0	0	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.1043C>G	p.Ser348Ter	p.S348*	ENST00000354473	6/6	564	532	32	278	278	0	strelka-varscan-mutect	VPS72,stop_gained,p.Ser337Ter,ENST00000368892,NM_001271088.1,NM_005997.2;VPS72,stop_gained,p.Ser348Ter,ENST00000354473,NM_001271087.1;TMOD4,upstream_gene_variant,,ENST00000295314,NM_013353.2;TMOD4,upstream_gene_variant,,ENST00000441701,;TMOD4,upstream_gene_variant,,ENST00000466891,;VPS72,downstream_gene_variant,,ENST00000496809,;TMOD4,upstream_gene_variant,,ENST00000601585,;TMOD4,upstream_gene_variant,,ENST00000488488,;VPS72,non_coding_transcript_exon_variant,,ENST00000491094,;TMOD4,upstream_gene_variant,,ENST00000463543,;	C	ENST00000354473	Transcript	stop_gained	1080/1347	1043/1128	348/375	S/*	tCa/tGa		1		-1	VPS72	HGNC	HGNC:11644	protein_coding	YES	CCDS59201.1	ENSP00000346464	Q15906		UPI0000204210	NM_001271087.1			6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR13275																	HIGH		SNV	3			1										PASS		.	.												C	4	2	47	151176729	151176729	G	C	1	0	0	0	0	0	1	0	0	17765	1294	45	4		4	VPS72	1	151176729	Nonsense_Mutation	SNP	G	C3N-00433_TP	59074095	151176729	97779693	4	14788											
KCNN3	0	.	GRCh38	chr1	154772124	154772124	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccccgatgctgcgggaCgaggcatcggtgaagagctt	8	6	17	10	4	0	2	0	1	0	1	1	5	0	3	2	4	3	3	2	4	1	1	rs2271117		C3N-00433_TP	C3N-00433_NB	C	C																c.1299G>A	p.=	p.S433S	ENST00000618040	3/9	670	621	49	331	331	0	strelka-varscan-mutect	KCNN3,synonymous_variant,p.=,ENST00000618040,NM_001204087.1;KCNN3,synonymous_variant,p.=,ENST00000271915,NM_002249.5;KCNN3,synonymous_variant,p.=,ENST00000361147,NM_170782.2;KCNN3,synonymous_variant,p.=,ENST00000358505,;	T	ENST00000618040	Transcript	synonymous_variant	1613/13057	1299/2241	433/746	S	tcG/tcA	rs2271117,COSM1255399,COSM1255400	1		-1	KCNN3	HGNC	HGNC:6292	protein_coding	YES	CCDS72928.1	ENSP00000481848		A0A087WYJ0	UPI0001F936D2	NM_001204087.1			3/9		Gene3D:1.10.287.70,hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF40,Superfamily_domains:SSF81324											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs2271117	.												T	2	4	47	154772124	154772124	C	T	1	0	0	0	0	0	0	0	1	7996	523	19	1		1	KCNN3	1	154772124	Silent	SNP	C	C3N-00433_TP	3595395	154772124	94184298	5	14789											
ARHGEF11	0	.	GRCh38	chr1	156961758	156961758	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctgctgataaacttcTgcacacaggtaaaaaagcta	14	10	7	10	0	1	1	0	1	1	0	1	1	1	1	1	1	5	4	1	1	6	5	rs752773914		C3N-00433_TP	C3N-00433_NB	T	T																c.1158A>T	p.=	p.A386A	ENST00000368194	14/41	221	197	24	163	163	0	strelka-varscan-mutect	ARHGEF11,synonymous_variant,p.=,ENST00000368194,NM_198236.2;ARHGEF11,synonymous_variant,p.=,ENST00000361409,NM_014784.3;ARHGEF11,non_coding_transcript_exon_variant,,ENST00000486670,;	A	ENST00000368194	Transcript	synonymous_variant	2198/6889	1158/4689	386/1562	A	gcA/gcT	rs752773914	1		-1	ARHGEF11	HGNC	HGNC:14580	protein_coding	YES	CCDS1163.1	ENSP00000357177	O15085		UPI00001D62A7	NM_198236.2			14/41		PROSITE_profiles:PS50132,hmmpanther:PTHR12673:SF111,hmmpanther:PTHR12673,Pfam_domain:PF09128,Gene3D:1.10.167.10,SMART_domains:SM00315,Superfamily_domains:SSF48097																	LOW	1	SNV	1			1										PASS		rs752773914	.												A	2	1	47	156961758	156961758	T	A	1	0	0	0	0	0	0	0	1	1026	1567	55	4		4	ARHGEF11	1	156961758	Silent	SNP	T	C3N-00433_TP	2189634	156961758	91994664	6	14790											
CRP	0	.	GRCh38	chr1	159713582	159713582	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcacttcatacttcagtgcCcgccagttcaggacattagg	9	11	9	12	1	3	0	3	0	0	0	3	1	3	1	2	2	3	2	2	2	2	5	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.618G>T	p.=	p.R206R	ENST00000255030	2/2	253	236	17	148	147	1	strelka-varscan-mutect	CRP,synonymous_variant,p.=,ENST00000255030,NM_000567.2;CRP,synonymous_variant,p.=,ENST00000437342,;CRP,synonymous_variant,p.=,ENST00000368112,;CRP,synonymous_variant,p.=,ENST00000368110,;CRP,synonymous_variant,p.=,ENST00000368111,;CRP,non_coding_transcript_exon_variant,,ENST00000473196,;CRP,intron_variant,,ENST00000489317,;	A	ENST00000255030	Transcript	synonymous_variant	722/2015	618/675	206/224	R	cgG/cgT		1		-1	CRP	HGNC	HGNC:2367	protein_coding	YES	CCDS30911.1	ENSP00000255030	P02741		UPI0000128478	NM_000567.2			2/2		hmmpanther:PTHR19277:SF119,hmmpanther:PTHR19277,Pfam_domain:PF00354,Gene3D:2.60.120.200,SMART_domains:SM00159,Superfamily_domains:SSF49899,Prints_domain:PR00895																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	47	159713582	159713582	C	A	1	0	0	0	0	0	0	0	1	3697	610	22	2		2	CRP	1	159713582	Silent	SNP	C	C3N-00433_TP	2751824	159713582	89242840	7	14791											
TOMM40L	0	.	GRCh38	chr1	161226580	161226580	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcccaaccctgggagcttcGatgagctgcaccgtctatgc	7	9	11	14	2	1	1	0	1	1	0	2	3	1	2	3	1	6	3	3	1	2	2	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.91G>C	p.Asp31His	p.D31H	ENST00000367988	2/10	280	265	15	123	123	0	strelka-mutect	TOMM40L,missense_variant,p.Asp31His,ENST00000545897,NM_001286373.1,NM_001286374.1;TOMM40L,missense_variant,p.Asp31His,ENST00000367988,NM_032174.5;TOMM40L,missense_variant,p.Asp31His,ENST00000367987,;NR1I3,downstream_gene_variant,,ENST00000367983,NM_005122.4;NR1I3,downstream_gene_variant,,ENST00000506209,;NR1I3,downstream_gene_variant,,ENST00000367980,NM_001077482.2;NR1I3,downstream_gene_variant,,ENST00000367982,NM_001077480.2;NR1I3,downstream_gene_variant,,ENST00000628566,;NR1I3,downstream_gene_variant,,ENST00000515621,;NR1I3,downstream_gene_variant,,ENST00000428574,NM_001077469.2;NR1I3,downstream_gene_variant,,ENST00000442691,NM_001077478.2;NR1I3,downstream_gene_variant,,ENST00000515452,;NR1I3,downstream_gene_variant,,ENST00000367981,NM_001077472.2;NR1I3,downstream_gene_variant,,ENST00000367979,;NR1I3,downstream_gene_variant,,ENST00000367985,NM_001077481.2;NR1I3,downstream_gene_variant,,ENST00000511676,NM_001077479.2;NR1I3,downstream_gene_variant,,ENST00000367984,NM_001077471.2;NR1I3,downstream_gene_variant,,ENST00000412844,NM_001077473.2;NR1I3,downstream_gene_variant,,ENST00000505005,NM_001077474.2;NR1I3,downstream_gene_variant,,ENST00000508740,NM_001077476.2;NR1I3,downstream_gene_variant,,ENST00000437437,NM_001077477.2;NR1I3,downstream_gene_variant,,ENST00000504010,NM_001077470.2;NR1I3,downstream_gene_variant,,ENST00000512372,NM_001077475.2;NR1I3,downstream_gene_variant,,ENST00000502985,;NR1I3,downstream_gene_variant,,ENST00000508387,;NR1I3,downstream_gene_variant,,ENST00000511944,;APOA2,upstream_gene_variant,,ENST00000464492,;NR1I3,downstream_gene_variant,,ENST00000511748,;APOA2,upstream_gene_variant,,ENST00000367990,NM_001643.1;APOA2,upstream_gene_variant,,ENST00000463273,;APOA2,upstream_gene_variant,,ENST00000468465,;APOA2,upstream_gene_variant,,ENST00000470459,;APOA2,upstream_gene_variant,,ENST00000463812,;APOA2,upstream_gene_variant,,ENST00000469730,;APOA2,upstream_gene_variant,,ENST00000491350,;TOMM40L,upstream_gene_variant,,ENST00000583479,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000474486,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000492482,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000470426,;TOMM40L,non_coding_transcript_exon_variant,,ENST00000465512,;NR1I3,downstream_gene_variant,,ENST00000479324,;NR1I3,downstream_gene_variant,,ENST00000488651,;NR1I3,downstream_gene_variant,,ENST00000503547,;TOMM40L,upstream_gene_variant,,ENST00000475793,;NR1I3,downstream_gene_variant,,ENST00000464422,;TOMM40L,upstream_gene_variant,,ENST00000468803,;NR1I3,downstream_gene_variant,,ENST00000506018,;APOA2,upstream_gene_variant,,ENST00000481413,;NR1I3,downstream_gene_variant,,ENST00000502848,;NR1I3,downstream_gene_variant,,ENST00000512340,;NR1I3,downstream_gene_variant,,ENST00000505944,;NR1I3,downstream_gene_variant,,ENST00000510951,;APOA2,upstream_gene_variant,,ENST00000481511,;NR1I3,downstream_gene_variant,,ENST00000507215,;	C	ENST00000367988	Transcript	missense_variant	360/2708	91/927	31/308	D/H	Gat/Cat		1		1	TOMM40L	HGNC	HGNC:25756	protein_coding	YES	CCDS1227.1	ENSP00000356967	Q969M1		UPI000006F917	NM_032174.5	deleterious(0.04)		2/10		hmmpanther:PTHR10802,hmmpanther:PTHR10802:SF0,Pfam_domain:PF01459,Gene3D:2.40.160.10																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	47	161226580	161226580	G	C	1	0	0	0	0	1	0	0	0	16833	1058	37	4		4	TOMM40L	1	161226580	Missense_Mutation	SNP	G	C3N-00433_TP	1512998	161226580	87729842	8	14792											
OLFML2B	0	.	GRCh38	chr1	161998151	161998151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcatggttggcgatgctgGgatctgaggtcgagggctgt	6	10	19	6	2	1	1	0	1	1	0	2	4	1	2	0	6	1	4	0	6	0	1	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.1151C>A	p.Pro384His	p.P384H	ENST00000367940	6/8	221	206	15	113	113	0	strelka-varscan-mutect	OLFML2B,missense_variant,p.Pro383His,ENST00000294794,NM_015441.2;OLFML2B,missense_variant,p.Pro384His,ENST00000367940,NM_001297713.1;	T	ENST00000367940	Transcript	missense_variant	1361/2685	1151/2256	384/751	P/H	cCc/cAc		1		-1	OLFML2B	HGNC	HGNC:24558	protein_coding	YES	CCDS72966.1	ENSP00000356917		F2Z3N3	UPI0001AE79B2	NM_001297713.1	deleterious(0.01)		6/8																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	47	161998151	161998151	G	T	1	0	0	0	0	1	0	0	0	10933	1232	43	2		2	OLFML2B	1	161998151	Missense_Mutation	SNP	G	C3N-00433_TP	771571	161998151	86958271	9	14793											
LMX1A	0	.	GRCh38	chr1	165355550	165355550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcctccatctttaggcCgtccagcatgttcgggccgg	4	12	11	14	3	2	0	0	0	2	0	6	0	4	0	5	3	1	3	5	3	1	4	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.10G>T	p.Gly4Cys	p.G4C	ENST00000342310	2/9	362	342	20	175	175	0	strelka-varscan-mutect	LMX1A,missense_variant,p.Gly4Cys,ENST00000342310,NM_177398.3;LMX1A,missense_variant,p.Gly4Cys,ENST00000294816,NM_001174069.1;LMX1A,missense_variant,p.Gly4Cys,ENST00000367893,;	A	ENST00000342310	Transcript	missense_variant	393/3545	10/1149	4/382	G/C	Ggc/Tgc		1		-1	LMX1A	HGNC	HGNC:6653	protein_coding	YES	CCDS1247.1	ENSP00000340226	Q8TE12		UPI000012E793	NM_177398.3	deleterious_low_confidence(0)		2/9		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF88																	MODERATE	1	SNV	2			1										PASS		rs979422359	.												A	3	1	47	165355550	165355550	C	A	1	0	0	0	0	1	0	0	0	8788	652	23	1		1	LMX1A	1	165355550	Missense_Mutation	SNP	C	C3N-00433_TP	3357399	165355550	83600872	10	14794											
ILDR2	0	.	GRCh38	chr1	166958036	166958036	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggcagcgaagcacagTgggctggaagagcatggcca	12	4	17	8	1	0	1	0	0	0	1	0	4	0	2	1	4	3	4	1	4	3	0	novel		C3N-00433_TP	C3N-00433_NB	T	T																c.112A>T	p.Thr38Ser	p.T38S	ENST00000271417	2/10	220	197	23	140	140	0	strelka-varscan-mutect	ILDR2,missense_variant,p.Thr38Ser,ENST00000271417,NM_199351.2;ILDR2,missense_variant,p.Thr38Ser,ENST00000529071,;ILDR2,missense_variant,p.Thr38Ser,ENST00000528703,;ILDR2,missense_variant,p.Thr38Ser,ENST00000526687,;ILDR2,missense_variant,p.Thr38Ser,ENST00000525740,;ILDR2,missense_variant,p.Thr38Ser,ENST00000469934,;ILDR2,missense_variant,p.Thr38Ser,ENST00000529387,;	A	ENST00000271417	Transcript	missense_variant	168/13140	112/1920	38/639	T/S	Act/Tct		1		-1	ILDR2	HGNC	HGNC:18131	protein_coding	YES	CCDS1256.1	ENSP00000271417	Q71H61		UPI00002317DF	NM_199351.2	deleterious(0.01)		2/10		Gene3D:2.60.40.10,hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	47	166958036	166958036	T	A	1	0	0	0	0	1	0	0	0	7613	1696	59	4		4	ILDR2	1	166958036	Missense_Mutation	SNP	T	C3N-00433_TP	1602486	166958036	81998386	11	14795											
FMO2	0	.	GRCh38	chr1	171208998	171208998	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaggagccagaaatgcCatcttcacccagaaacaaag	16	5	10	10	0	2	2	1	0	1	2	2	4	2	4	3	2	3	0	3	2	4	1	rs755791366		C3N-00433_TP	C3N-00433_NB	C	C																c.1461C>T	p.=	p.A487A	ENST00000209929	9/9	86	80	6	77	77	0	strelka-varscan-mutect	FMO2,synonymous_variant,p.=,ENST00000209929,NM_001460.4;RP1-127D3.4,intron_variant,,ENST00000422841,;RP1-127D3.4,intron_variant,,ENST00000445909,;RP1-127D3.4,intron_variant,,ENST00000445290,;FMO2,3_prime_UTR_variant,,ENST00000529935,;FMO2,non_coding_transcript_exon_variant,,ENST00000488431,;	T	ENST00000209929	Transcript	synonymous_variant	1619/3851	1461/1608	487/535	A	gcC/gcT	rs755791366	1		1	FMO2	HGNC	HGNC:3770	protein_coding	YES	CCDS1293.2	ENSP00000209929	Q99518		UPI0000ED9123	NM_001460.4			9/9		Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF84																	LOW	1	SNV	1			1										PASS		rs755791366	.												T	2	4	47	171208998	171208998	C	T	1	0	0	0	0	0	0	0	1	5811	581	21	3		3	FMO2	1	171208998	Silent	SNP	C	C3N-00433_TP	4250962	171208998	77747424	12	14796											
TNN	0	.	GRCh38	chr1	175117148	175117148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggagtacacggtgcacGtgtgggcccagaagggggcc	7	6	19	9	2	0	1	0	0	0	1	0	2	0	2	2	5	2	2	2	5	2	1	rs147066934		C3N-00433_TP	C3N-00433_NB	G	G																c.2329G>T	p.Val777Leu	p.V777L	ENST00000239462	10/19	607	567	40	320	320	0	varscan-mutect	TNN,missense_variant,p.Val777Leu,ENST00000239462,NM_022093.1;TNN,missense_variant,p.Val600Leu,ENST00000621086,;TNN,missense_variant,p.Val600Leu,ENST00000622870,;	T	ENST00000239462	Transcript	missense_variant	2442/5008	2329/3900	777/1299	V/L	Gtg/Ttg	rs147066934,COSM318138	1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1	tolerated(0.21)		10/19		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs147066934	.												T	3	4	47	175117148	175117148	G	T	1	0	0	0	0	1	0	0	0	16796	1145	40	1		1	TNN	1	175117148	Missense_Mutation	SNP	G	C3N-00433_TP	3908150	175117148	73839274	13	14797											
ASTN1	0	.	GRCh38	chr1	176864502	176864502	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggtccccaagctgggAaaggatgagaccagctttcc	10	7	13	11	0	0	2	0	2	0	1	2	5	2	4	4	3	2	3	4	3	2	1	novel		C3N-00433_TP	C3N-00433_NB	A	A																c.3667T>A	p.Ser1223Thr	p.S1223T	ENST00000361833	23/23	284	259	25	170	170	0	strelka-varscan-mutect	ASTN1,missense_variant,p.Ser1223Thr,ENST00000361833,NM_004319.2;ASTN1,intron_variant,,ENST00000367657,NM_001286164.1;ASTN1,downstream_gene_variant,,ENST00000424564,NM_207108.2;	T	ENST00000361833	Transcript	missense_variant	3681/7116	3667/3885	1223/1294	S/T	Tcc/Acc		1		-1	ASTN1	HGNC	HGNC:773	protein_coding	YES	CCDS1319.1	ENSP00000354536	O14525		UPI0000160388	NM_004319.2	tolerated(0.08)		23/23		hmmpanther:PTHR16592:SF8,hmmpanther:PTHR16592																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	176864502	176864502	A	T	1	0	0	0	0	1	0	0	0	1211	246	9	4		4	ASTN1	1	176864502	Missense_Mutation	SNP	A	C3N-00433_TP	1747354	176864502	72091920	14	14798											
IGFN1	0	.	GRCh38	chr1	201208668	201208668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagagatggttcaggaggcCtccaaggaatgggatcagca	12	8	14	7	0	2	1	2	0	0	1	3	5	3	4	2	5	1	2	2	5	3	2	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.3775C>T	p.Leu1259Phe	p.L1259F	ENST00000335211	12/24	116	105	11	87	87	0	strelka-mutect	IGFN1,missense_variant,p.Leu1259Phe,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,upstream_gene_variant,,ENST00000473483,;IGFN1,downstream_gene_variant,,ENST00000444705,;	T	ENST00000335211	Transcript	missense_variant	3905/11810	3775/11127	1259/3708	L/F	Ctc/Ttc		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1	tolerated(0.08)		12/24		hmmpanther:PTHR10489:SF630,hmmpanther:PTHR10489																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	47	201208668	201208668	C	T	1	0	0	0	0	1	0	0	0	7497	681	24	3		3	IGFN1	1	201208668	Missense_Mutation	SNP	C	C3N-00433_TP	24344166	201208668	47747754	15	14799											
KCNK2	0	.	GRCh38	chr1	215195064	215195064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgattggagattggctccGagtgatatctaaaaagacaa	15	10	10	6	1	1	4	0	2	1	2	2	6	2	4	1	2	0	1	1	2	5	4	rs763061596		C3N-00433_TP	C3N-00433_NB	G	G																c.935G>T	p.Arg312Leu	p.R312L	ENST00000444842	6/7	197	177	20	195	194	1	strelka-varscan-mutect	KCNK2,missense_variant,p.Arg312Leu,ENST00000444842,NM_001017425.2;KCNK2,missense_variant,p.Arg297Leu,ENST00000391894,NM_014217.3;KCNK2,missense_variant,p.Arg308Leu,ENST00000391895,NM_001017424.2;KCNK2,3_prime_UTR_variant,,ENST00000486921,;KCNK2,3_prime_UTR_variant,,ENST00000467031,;KCNK2,3_prime_UTR_variant,,ENST00000474771,;KCNK2,downstream_gene_variant,,ENST00000470177,;	T	ENST00000444842	Transcript	missense_variant	1085/3379	935/1281	312/426	R/L	cGa/cTa	rs763061596	1		1	KCNK2	HGNC	HGNC:6277	protein_coding	YES	CCDS41467.1	ENSP00000394033	O95069		UPI000013D4B8	NM_001017425.2	deleterious(0.02)		6/7		hmmpanther:PTHR11003:SF21,hmmpanther:PTHR11003,Gene3D:1.10.287.70,Pfam_domain:PF07885,Superfamily_domains:SSF81324,Prints_domain:PR01499																	MODERATE	1	SNV	1			1										PASS		rs763061596	.												T	3	4	47	215195064	215195064	G	T	1	0	0	0	0	1	0	0	0	7983	1058	37	1		1	KCNK2	1	215195064	Missense_Mutation	SNP	G	C3N-00433_TP	13986396	215195064	33761358	16	14800											
DNAH14	0	.	GRCh38	chr1	225374855	225374855	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgtaatcctgaagtgctGaaagatgacttcagtttctc	10	16	8	7	0	2	4	1	3	1	1	4	4	3	4	1	0	1	3	1	0	3	5			C3N-00433_TP	C3N-00433_NB	G	G																c.12207G>A	p.=	p.L4069L	ENST00000430092	76/84	130	122	8	102	102	0	strelka-varscan-mutect	DNAH14,synonymous_variant,p.=,ENST00000430092,NM_001373.1;DNAH14,synonymous_variant,p.=,ENST00000439375,;DNAH14,intron_variant,,ENST00000445597,;DNAH14,3_prime_UTR_variant,,ENST00000327794,;	A	ENST00000430092	Transcript	synonymous_variant	12422/13763	12207/13548	4069/4515	L	ctG/ctA	COSM5681178	1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000414402	Q0VDD8		UPI000192C36D	NM_001373.1			76/84		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF254,Pfam_domain:PF03028											1						LOW		SNV	5		1	1										PASS		.	.												A	2	1	47	225374855	225374855	G	A	1	0	0	0	0	0	0	0	1	4415	1277	45	3		3	DNAH14	1	225374855	Silent	SNP	G	C3N-00433_TP	10179791	225374855	23581567	17	14801											
OBSCN	0	.	GRCh38	chr1	228212621	228212621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggacggccagctggtgaccGagggccggcgccacgtggtg	6	4	19	12	5	0	1	0	1	0	0	0	3	0	2	4	6	1	1	4	6	0	0	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.838G>A	p.Glu280Lys	p.E280K	ENST00000570156	2/116	775	736	39	393	393	0	strelka-varscan-mutect	OBSCN,missense_variant,p.Glu280Lys,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Glu280Lys,ENST00000366707,;OBSCN,missense_variant,p.Glu280Lys,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Glu280Lys,ENST00000636875,;OBSCN,missense_variant,p.Glu280Lys,ENST00000284548,NM_052843.3;C1orf145,intron_variant,,ENST00000295012,;OBSCN,upstream_gene_variant,,ENST00000493977,;C1orf145,3_prime_UTR_variant,,ENST00000337335,;C1orf145,intron_variant,,ENST00000472613,;	A	ENST00000570156	Transcript	missense_variant	912/26925	838/26772	280/8923	E/K	Gag/Aag		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	tolerated(0.52)		2/116		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF708,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	47	228212621	228212621	G	A	1	0	0	0	0	1	0	0	0	10889	1059	37	1		1	OBSCN	1	228212621	Missense_Mutation	SNP	G	C3N-00433_TP	2837766	228212621	20743801	18	14802											
RYR2	0	.	GRCh38	chr1	237388167	237388167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcccttcaggagaacatGgtgaagagcagcggaggtta	11	8	14	8	1	1	3	1	1	0	2	2	5	2	4	1	4	3	2	1	4	3	2	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.757G>T	p.Gly253Cys	p.G253C	ENST00000366574	10/105	384	358	26	271	271	0	strelka-varscan-mutect	RYR2,missense_variant,p.Gly253Cys,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Gly237Cys,ENST00000360064,;	T	ENST00000366574	Transcript	missense_variant	1074/16562	757/14904	253/4967	G/C	Ggt/Tgt		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0.01)		10/105		Gene3D:2.80.10.50,Pfam_domain:PF02815,PROSITE_profiles:PS50919,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,SMART_domains:SM00472,Superfamily_domains:SSF82109																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	237388167	237388167	G	T	1	0	0	0	0	1	0	0	0	14029	1348	47	2		2	RYR2	1	237388167	Missense_Mutation	SNP	G	C3N-00433_TP	9175546	237388167	11568255	19	14803											
CEP170	0	.	GRCh38	chr1	243172829	243172829	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctattataatcctgattGtcatctactccaaacaccta	12	13	4	12	0	2	1	1	1	1	0	4	1	4	1	4	1	2	0	4	1	6	6	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.1584C>T	p.=	p.D528D	ENST00000366542	11/20	53	46	7	84	84	0	strelka-varscan-mutect	CEP170,synonymous_variant,p.=,ENST00000366542,NM_014812.2;CEP170,synonymous_variant,p.=,ENST00000366544,NM_001042404.1;CEP170,synonymous_variant,p.=,ENST00000366543,NM_001042405.1;CEP170,synonymous_variant,p.=,ENST00000336415,;CEP170,synonymous_variant,p.=,ENST00000522895,;RP11-261C10.4,downstream_gene_variant,,ENST00000437499,;RP11-261C10.4,downstream_gene_variant,,ENST00000422938,;CEP170,non_coding_transcript_exon_variant,,ENST00000518289,;CEP170,3_prime_UTR_variant,,ENST00000461671,;CEP170,non_coding_transcript_exon_variant,,ENST00000521911,;	A	ENST00000366542	Transcript	synonymous_variant	1636/6828	1584/4755	528/1584	D	gaC/gaT		1		-1	CEP170	HGNC	HGNC:28920	protein_coding	YES	CCDS44339.1	ENSP00000355500	Q5SW79		UPI0000470238	NM_014812.2			11/20		hmmpanther:PTHR15715:SF17,hmmpanther:PTHR15715																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	47	243172829	243172829	G	A	1	0	0	0	0	0	0	0	1	2964	1368	48	3		3	CEP170	1	243172829	Silent	SNP	G	C3N-00433_TP	5784662	243172829	5783593	20	14804											
OR2G3	0	.	GRCh38	chr1	247605997	247605997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actatgtagtcatcatgaacCcacggctttgccaacagctg	11	10	8	12	1	2	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	3	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.412C>A	p.Pro138Thr	p.P138T	ENST00000320002	1/1	274	247	27	191	190	1	strelka-varscan-mutect	OR2G3,missense_variant,p.Pro138Thr,ENST00000320002,NM_001001914.1;U6,downstream_gene_variant,,ENST00000637707,;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;	A	ENST00000320002	Transcript	missense_variant	412/930	412/930	138/309	P/T	Cca/Aca		1		1	OR2G3	HGNC	HGNC:15008	protein_coding	YES	CCDS31093.1	ENSP00000326301	Q8NGZ4	A0A126GVX0	UPI0000041CD9	NM_001001914.1	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF300,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE		SNV				1										PASS		.	.												A	3	1	47	247605997	247605997	C	A	1	0	0	0	0	1	0	0	0	11077	623	22	2		2	OR2G3	1	247605997	Missense_Mutation	SNP	C	C3N-00433_TP	4433168	247605997	1350425	21	14805											
OR2T8	0	.	GRCh38	chr1	247921068	247921068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attctcctaggactctttaaCcacaccagagcccaccaagt	12	9	5	15	0	2	1	0	0	2	1	3	2	2	2	5	1	2	0	5	1	3	4	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.51C>A	p.Asn17Lys	p.N17K	ENST00000319968	1/1	109	101	8	74	74	0	varscan-mutect	OR2T8,missense_variant,p.Asn17Lys,ENST00000319968,NM_001005522.1;	A	ENST00000319968	Transcript	missense_variant	51/939	51/939	17/312	N/K	aaC/aaA		1		1	OR2T8	HGNC	HGNC:15020	protein_coding	YES	CCDS31100.1	ENSP00000326225	A6NH00		UPI00001999E3	NM_001005522.1	tolerated(0.18)		1/1		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	47	247921068	247921068	C	A	1	0	0	0	0	1	0	0	0	11107	506	18	2		2	OR2T8	1	247921068	Missense_Mutation	SNP	C	C3N-00433_TP	315071	247921068	1035354	22	14806											
OR2T8	0	.	GRCh38	chr1	247921375	247921375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcagccatggcctatgacCgctatgcggctgtctgccac	7	9	11	14	2	1	1	0	1	1	0	1	1	1	1	4	2	4	3	4	2	3	3	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.358C>A	p.Arg120Ser	p.R120S	ENST00000319968	1/1	173	159	14	98	98	0	varscan-mutect	OR2T8,missense_variant,p.Arg120Ser,ENST00000319968,NM_001005522.1;	A	ENST00000319968	Transcript	missense_variant	358/939	358/939	120/312	R/S	Cgc/Agc		1		1	OR2T8	HGNC	HGNC:15020	protein_coding	YES	CCDS31100.1	ENSP00000326225	A6NH00		UPI00001999E3	NM_001005522.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs1361086206	.												A	3	1	47	247921375	247921375	C	A	1	0	0	0	0	1	0	0	0	11107	652	23	1		1	OR2T8	1	247921375	Missense_Mutation	SNP	C	C3N-00433_TP	307	247921375	1035047	23	14807											
CTNNA2	0	.	GRCh38	chr2	79909792	79909792	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctcagcgagtacatgAataatgtaagtcttgggatc	12	11	10	8	1	2	1	1	1	1	0	3	3	2	2	1	1	3	3	1	1	4	4			C3N-00433_TP	C3N-00433_NB	A	A																c.1051A>C	p.Asn351His	p.N351H	ENST00000402739	6/18	114	105	9	76	75	1	varscan-mutect	CTNNA2,missense_variant,p.Asn351His,ENST00000466387,;CTNNA2,missense_variant,p.Asn351His,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Asn351His,ENST00000402739,NM_001282597.2;CTNNA2,missense_variant,p.Asn351His,ENST00000629316,NM_001164883.1;	C	ENST00000402739	Transcript	missense_variant	1056/3684	1051/2862	351/953	N/H	Aat/Cat	COSM5415354,COSM5415356	1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2	tolerated(0.12)		6/18		Pfam_domain:PF01044,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1185995811	.												C	3	2	47	79909792	79909792	A	C	1	0	0	0	0	1	0	0	0	3822	260	9	5		5	CTNNA2	2	79909792	Missense_Mutation	SNP	A	C3N-00433_TP		79909792	162283737	24	14808											
KCNIP3	0	.	GRCh38	chr2	95382458	95382458	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcgggaggacgcgccggcgGagcacgtggagaggttcttc	6	6	19	10	6	1	1	0	0	1	1	2	5	1	4	1	6	2	2	1	6	0	2	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.637G>T	p.Glu213Ter	p.E213*	ENST00000295225	7/9	111	100	11	58	58	0	strelka-varscan-mutect	KCNIP3,stop_gained,p.Glu213Ter,ENST00000295225,NM_013434.4;KCNIP3,stop_gained,p.Glu213Ter,ENST00000360990,;KCNIP3,stop_gained,p.Glu187Ter,ENST00000468529,NM_001034914.1;KCNIP3,non_coding_transcript_exon_variant,,ENST00000377181,;	T	ENST00000295225	Transcript	stop_gained	772/2940	637/771	213/256	E/*	Gag/Tag		1		1	KCNIP3	HGNC	HGNC:15523	protein_coding	YES	CCDS2013.1	ENSP00000295225	Q9Y2W7	A0A024RE22	UPI0000000CCD	NM_013434.4			7/9		PROSITE_profiles:PS50222,hmmpanther:PTHR23055,hmmpanther:PTHR23055:SF61,Gene3D:1.10.238.10,Pfam_domain:PF13499,Superfamily_domains:SSF47473																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	47	95382458	95382458	G	T	1	0	0	0	0	0	1	0	0	7957	1175	41	2		2	KCNIP3	2	95382458	Nonsense_Mutation	SNP	G	C3N-00433_TP	15472666	95382458	146811071	25	14809											
LRP1B	0	.	GRCh38	chr2	141247261	141247261	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatctgttgtctggctgcAttaggtagccttccacacaa	10	12	9	10	0	2	1	0	0	2	1	3	1	3	1	2	2	2	4	2	2	4	4	novel		C3N-00433_TP	C3N-00433_NB	A	A																c.557T>C	p.Met186Thr	p.M186T	ENST00000389484	5/91	304	286	18	344	344	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Met186Thr,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	G	ENST00000389484	Transcript	missense_variant	1529/16535	557/13800	186/4599	M/T	aTg/aCg		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0.03)		5/91		PROSITE_profiles:PS50026,PROSITE_patterns:PS01186,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	47	141247261	141247261	A	G	1	0	0	0	0	1	0	0	0	8850	217	8	5		5	LRP1B	2	141247261	Missense_Mutation	SNP	A	C3N-00433_TP	45864803	141247261	100946268	26	14810											
NEB	0	.	GRCh38	chr2	151552740	151552740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgtgacaagcttgtagtCattccttgttttcaacatgt	9	17	7	8	0	3	1	2	1	1	0	4	1	4	1	1	0	2	3	1	0	3	6	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.19768G>A	p.Asp6590Asn	p.D6590N	ENST00000618972	128/183	155	141	14	123	123	0	strelka-varscan-mutect	NEB,missense_variant,p.Asp6590Asn,ENST00000618972,NM_001271208.1;NEB,missense_variant,p.Asp6590Asn,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Asp6590Asn,ENST00000427231,NM_001164507.1;NEB,missense_variant,p.Asp6590Asn,ENST00000603639,;NEB,missense_variant,p.Asp6590Asn,ENST00000604864,;NEB,missense_variant,p.Asp4889Asn,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Asp4889Asn,ENST00000172853,;NEB,missense_variant,p.Asp1320Asn,ENST00000413693,;	T	ENST00000618972	Transcript	missense_variant	19971/26307	19768/25683	6590/8560	D/N	Gac/Aac		1		-1	NEB	HGNC	HGNC:7720	protein_coding	YES	CCDS74588.1	ENSP00000484342		A0A087X1N7	UPI0004E4CCB0	NM_001271208.1	tolerated(0.24)		128/183		PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	47	151552740	151552740	C	T	1	0	0	0	0	1	0	0	0	10326	826	29	3		3	NEB	2	151552740	Missense_Mutation	SNP	C	C3N-00433_TP	10305479	151552740	90640789	27	14811											
SCN7A	0	.	GRCh38	chr2	166405976	166405976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccttgtttggttttgcCatgaaaagaggaggatcaag	10	12	13	6	0	1	2	1	1	0	1	1	4	1	4	2	4	1	2	2	4	3	4	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.4653G>T	p.Met1551Ile	p.M1551I	ENST00000409855	25/25	159	149	10	140	140	0	strelka-varscan-mutect	SCN7A,missense_variant,p.Met1551Ile,ENST00000619410,;SCN7A,missense_variant,p.Met1551Ile,ENST00000621965,;SCN7A,missense_variant,p.Met1551Ile,ENST00000409855,NM_002976.3;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	A	ENST00000409855	Transcript	missense_variant	4780/7183	4653/5049	1551/1682	M/I	atG/atT		1		-1	SCN7A	HGNC	HGNC:10594	protein_coding	YES	CCDS46442.1	ENSP00000386796	Q01118		UPI0000209019	NM_002976.3	tolerated(1)		25/25		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	47	166405976	166405976	C	A	1	0	0	0	0	1	0	0	0	14192	594	21	2		2	SCN7A	2	166405976	Missense_Mutation	SNP	C	C3N-00433_TP	14853236	166405976	75787553	28	14812											
GMPPA	0	.	GRCh38	chr2	219505653	219505653	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttaaagcctcaatccctGccccttcctgatcaaattcg	10	11	6	14	1	2	1	2	1	0	0	5	2	4	1	5	0	2	1	5	0	4	3	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.951G>T	p.=	p.L317L	ENST00000373917	9/12	407	378	29	229	228	1	strelka-varscan-mutect	GMPPA,synonymous_variant,p.=,ENST00000373917,;GMPPA,intron_variant,,ENST00000358215,NM_205847.2;GMPPA,intron_variant,,ENST00000313597,NM_013335.3;GMPPA,intron_variant,,ENST00000341142,;GMPPA,intron_variant,,ENST00000373908,;GMPPA,intron_variant,,ENST00000622191,;GMPPA,downstream_gene_variant,,ENST00000455657,;GMPPA,downstream_gene_variant,,ENST00000435316,;GMPPA,upstream_gene_variant,,ENST00000480034,;AC053503.11,intron_variant,,ENST00000429882,;GMPPA,downstream_gene_variant,,ENST00000635609,;GMPPA,non_coding_transcript_exon_variant,,ENST00000481170,;GMPPA,intron_variant,,ENST00000443704,;GMPPA,downstream_gene_variant,,ENST00000480506,;GMPPA,upstream_gene_variant,,ENST00000496536,;	T	ENST00000373917	Transcript	synonymous_variant	1022/1630	951/1422	317/473	L	ctG/ctT		1		1	GMPPA	HGNC	HGNC:22923	protein_coding			ENSP00000363027	Q96IJ6		UPI000066D9A1				9/12																			LOW		SNV	5			1										PASS		rs1017038834	.												T	2	4	47	219505653	219505653	G	T	1	0	0	0	0	0	0	0	1	6374	1306	46	2		2	GMPPA	2	219505653	Silent	SNP	G	C3N-00433_TP	53099677	219505653	22687876	29	14813											
GMPPA	0	.	GRCh38	chr2	219506361	219506361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccccaacgatccccgagcCcgcatggacagtgagagcct	11	4	10	16	3	0	1	0	1	0	1	1	5	1	2	6	1	4	1	6	1	2	0	rs759296812		C3N-00433_TP	C3N-00433_NB	C	C																c.1101C>T	p.=	p.A367A	ENST00000358215	12/13	253	238	15	127	127	0	strelka-varscan-mutect	GMPPA,missense_variant,p.Pro367Leu,ENST00000622191,;GMPPA,synonymous_variant,p.=,ENST00000358215,NM_205847.2;GMPPA,synonymous_variant,p.=,ENST00000373917,;GMPPA,synonymous_variant,p.=,ENST00000313597,NM_013335.3;GMPPA,synonymous_variant,p.=,ENST00000341142,;GMPPA,synonymous_variant,p.=,ENST00000373908,;GMPPA,synonymous_variant,p.=,ENST00000480034,;GMPPA,downstream_gene_variant,,ENST00000455657,;GMPPA,downstream_gene_variant,,ENST00000435316,;AC053503.11,intron_variant,,ENST00000429882,;GMPPA,downstream_gene_variant,,ENST00000635609,;GMPPA,3_prime_UTR_variant,,ENST00000443704,;GMPPA,non_coding_transcript_exon_variant,,ENST00000481170,;GMPPA,non_coding_transcript_exon_variant,,ENST00000496536,;GMPPA,downstream_gene_variant,,ENST00000480506,;	T	ENST00000358215	Transcript	synonymous_variant	1470/1823	1101/1263	367/420	A	gcC/gcT	rs759296812	1		1	GMPPA	HGNC	HGNC:22923	protein_coding	YES	CCDS2441.1	ENSP00000350949	Q96IJ6	A0A024R482	UPI000006D41C	NM_205847.2			12/13		hmmpanther:PTHR22572,hmmpanther:PTHR22572:SF104,Gene3D:2.160.10.10																	LOW	1	SNV	1			1										PASS		rs759296812	.												T	2	4	47	219506361	219506361	C	T	1	0	0	0	0	0	0	0	1	6374	623	22	3		3	GMPPA	2	219506361	Silent	SNP	C	C3N-00433_TP	708	219506361	22687168	30	14814											
COL6A3	0	.	GRCh38	chr2	237341092	237341092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctccctgccgctctcctGtccctgaaggaaggcctcca	5	9	9	18	2	1	1	0	1	1	0	6	2	4	2	6	2	1	2	6	2	2	0	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.7824C>G	p.Asp2608Glu	p.D2608E	ENST00000295550	38/44	314	296	18	191	190	1	strelka-varscan-mutect	COL6A3,missense_variant,p.Asp2608Glu,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Asp2402Glu,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Asp2402Glu,ENST00000409809,;COL6A3,missense_variant,p.Asp2001Glu,ENST00000472056,NM_057166.4;COL6A3,missense_variant,p.Asp2000Glu,ENST00000347401,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;COL6A3,upstream_gene_variant,,ENST00000468792,;	C	ENST00000295550	Transcript	missense_variant	8277/10749	7824/9534	2608/3177	D/E	gaC/gaG		1		-1	COL6A3	HGNC	HGNC:2213	protein_coding	YES	CCDS33412.1	ENSP00000295550	P12111	D9ZGF2	UPI0000456F39	NM_004369.3	tolerated(0.09)		38/44		hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF74																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	47	237341092	237341092	G	C	1	0	0	0	0	1	0	0	0	3490	1368	48	4		4	COL6A3	2	237341092	Missense_Mutation	SNP	G	C3N-00433_TP	17834731	237341092	4852437	31	14815											
LRRN1	0	.	GRCh38	chr3	3845629	3845629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaactctcttacatccacCgcttggctttccgaagtgtc	8	13	6	14	2	1	0	0	0	1	0	5	1	3	0	3	1	2	2	3	1	4	4	rs146290783		C3N-00433_TP	C3N-00433_NB	C	C																c.988C>A	p.Arg330Ser	p.R330S	ENST00000319331	2/2	427	402	25	303	302	1	strelka-varscan-mutect	LRRN1,missense_variant,p.Arg330Ser,ENST00000319331,NM_020873.5;LRRN1,downstream_gene_variant,,ENST00000496115,;SUMF1,intron_variant,,ENST00000448413,;	A	ENST00000319331	Transcript	missense_variant	1749/3823	988/2151	330/716	R/S	Cgc/Agc	rs146290783	1		1	LRRN1	HGNC	HGNC:20980	protein_coding	YES	CCDS33685.1	ENSP00000314901	Q6UXK5		UPI0000034CB8	NM_020873.5	deleterious(0.02)		2/2		hmmpanther:PTHR24373:SF97,hmmpanther:PTHR24373,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs146290783	.												A	3	1	47	3845629	3845629	C	A	1	0	0	0	0	1	0	0	0	8940	652	23	1		1	LRRN1	3	3845629	Missense_Mutation	SNP	C	C3N-00433_TP		3845629	194449930	32	14816											
ULK4	0	.	GRCh38	chr3	41918540	41918540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgagaagaatggaggttttCctgaaatcacatgaaaactt	15	11	9	6	0	1	4	1	3	0	2	2	6	2	5	1	2	1	1	1	2	5	3	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.644G>A	p.Gly215Glu	p.G215E	ENST00000301831	7/37	66	62	4	82	82	0	varscan-mutect	ULK4,missense_variant,p.Gly215Glu,ENST00000301831,NM_017886.2;ULK4,missense_variant,p.Gly215Glu,ENST00000420927,;ULK4,downstream_gene_variant,,ENST00000459802,;ULK4,upstream_gene_variant,,ENST00000481226,;	T	ENST00000301831	Transcript	missense_variant,splice_region_variant	1107/4613	644/3828	215/1275	G/E	gGa/gAa		1		-1	ULK4	HGNC	HGNC:15784	protein_coding	YES	CCDS43071.1	ENSP00000301831	Q96C45		UPI0000E8267C	NM_017886.2	deleterious(0)		7/37		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22983,hmmpanther:PTHR22983:SF15,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	47	41918540	41918540	C	T	1	0	0	0	0	1	0	0	0	17501	869	30	3		3	ULK4	3	41918540	Missense_Mutation	SNP	C	C3N-00433_TP	38072911	41918540	156377019	33	14817											
MYL3	0	.	GRCh38	chr3	46863357	46863357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgggggctgccttggcatCatccttcttgggctctggct	2	14	13	12	0	3	0	1	0	2	0	4	0	4	0	2	5	1	4	2	5	0	4	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.34G>A	p.Asp12Asn	p.D12N	ENST00000395869	1/6	321	303	18	184	184	0	strelka-varscan-mutect	MYL3,missense_variant,p.Asp12Asn,ENST00000395869,;MYL3,missense_variant,p.Asp12Asn,ENST00000292327,NM_000258.2;MYL3,missense_variant,p.Asp12Asn,ENST00000431168,;	T	ENST00000395869	Transcript	missense_variant	86/1012	34/588	12/195	D/N	Gat/Aat		1		-1	MYL3	HGNC	HGNC:7584	protein_coding	YES	CCDS2746.1	ENSP00000379210	P08590	A0A024R2Q5	UPI0000000CA2		tolerated_low_confidence(0.45)		1/6		hmmpanther:PTHR23048,hmmpanther:PTHR23048:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	46863357	46863357	C	T	1	0	0	0	0	1	0	0	0	10048	826	29	3		3	MYL3	3	46863357	Missense_Mutation	SNP	C	C3N-00433_TP	4944817	46863357	151432202	34	14818											
SLC25A20	0	.	GRCh38	chr3	48862641	48862641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaccagtgtacttgctttCtcctgaagaagcctgaatct	9	13	9	10	0	2	3	0	2	2	1	3	3	2	3	3	1	4	3	3	1	5	4	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.436G>A	p.Glu146Lys	p.E146K	ENST00000319017	5/9	443	417	26	364	364	0	strelka-varscan-mutect	SLC25A20,missense_variant,p.Glu146Lys,ENST00000319017,NM_000387.5;SLC25A20,missense_variant,p.Glu73Lys,ENST00000430379,;SLC25A20,3_prime_UTR_variant,,ENST00000440964,;SLC25A20,upstream_gene_variant,,ENST00000479050,;	T	ENST00000319017	Transcript	missense_variant	635/1879	436/906	146/301	E/K	Gaa/Aaa		1		-1	SLC25A20	HGNC	HGNC:1421	protein_coding	YES	CCDS2779.1	ENSP00000326305	O43772		UPI000012ED5E	NM_000387.5	tolerated(0.4)		5/9		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF323,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	48862641	48862641	C	T	1	0	0	0	0	1	0	0	0	14748	922	32	3		3	SLC25A20	3	48862641	Missense_Mutation	SNP	C	C3N-00433_TP	1999284	48862641	149432918	35	14819											
EEFSEC	0	.	GRCh38	chr3	128262171	128262171	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgtggcggccaagccggggGgaccagaggcccccgaaact	8	2	16	15	4	0	1	0	0	0	1	0	3	0	2	6	6	2	0	6	6	2	0	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.568G>T	p.Gly190Ter	p.G190*	ENST00000254730	3/7	342	311	31	170	170	0	strelka-varscan-mutect	EEFSEC,stop_gained,p.Gly190Ter,ENST00000254730,NM_021937.4;EEFSEC,stop_gained,p.Gly190Ter,ENST00000483457,;EEFSEC,intron_variant,,ENST00000484438,;	T	ENST00000254730	Transcript	stop_gained	622/2232	568/1791	190/596	G/*	Gga/Tga		1		1	EEFSEC	HGNC	HGNC:24614	protein_coding	YES	CCDS33849.1	ENSP00000254730	P57772		UPI000013CE58	NM_021937.4			3/7		Gene3D:3.40.50.300,Pfam_domain:PF00009,PROSITE_profiles:PS51722,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF91,Low_complexity_(Seg):seg,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		rs1267912892	.												T	4	4	47	128262171	128262171	G	T	1	0	0	0	0	0	1	0	0	4762	1233	43	2		2	EEFSEC	3	128262171	Nonsense_Mutation	SNP	G	C3N-00433_TP	79399530	128262171	70033388	36	14820											
COL6A5	0	.	GRCh38	chr3	130395330	130395330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttttgggcataggagatGtttataaggaacatctcctg	10	14	12	5	0	1	1	0	0	1	1	2	3	1	2	1	4	1	3	1	4	4	6	rs865843996		C3N-00433_TP	C3N-00433_NB	G	G																c.3433G>A	p.Val1145Ile	p.V1145I	ENST00000265379	8/43	202	191	11	242	242	0	strelka-varscan-mutect	COL6A5,missense_variant,p.Val1145Ile,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,missense_variant,p.Val1145Ile,ENST00000312481,;	A	ENST00000265379	Transcript	missense_variant	3927/9214	3433/7836	1145/2611	V/I	Gtt/Att	rs865843996	1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1	tolerated(0.24)		8/43		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF133,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		rs865843996	.												A	3	1	47	130395330	130395330	G	A	1	0	0	0	0	1	0	0	0	3491	1377	48	3		3	COL6A5	3	130395330	Missense_Mutation	SNP	G	C3N-00433_TP	2133159	130395330	67900229	37	14821											
HTR3D	0	.	GRCh38	chr3	184038379	184038379	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattctaggtggcgcctcTggccctcatgcagaccccct	7	9	10	15	1	3	1	1	0	2	1	3	2	3	1	4	3	1	1	4	3	2	2	rs780610808		C3N-00433_TP	C3N-00433_NB	T	T																c.890T>A	p.Leu297Gln	p.L297Q	ENST00000382489	7/8	336	314	22	199	199	0	strelka-varscan-mutect	HTR3D,missense_variant,p.Leu297Gln,ENST00000382489,NM_001163646.1;HTR3D,intron_variant,,ENST00000334128,NM_182537.2;HTR3D,intron_variant,,ENST00000428798,NM_001145143.1;HTR3D,intron_variant,,ENST00000453435,;	A	ENST00000382489	Transcript	missense_variant	890/1674	890/1365	297/454	L/Q	cTg/cAg	rs780610808,COSM3330452	1		1	HTR3D	HGNC	HGNC:24004	protein_coding	YES	CCDS54685.1	ENSP00000371929	Q70Z44		UPI000024209D	NM_001163646.1	deleterious(0.03)		7/8		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF409,Pfam_domain:PF02932,Gene3D:1.20.120.370,Superfamily_domains:SSF90112											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs780610808	.												A	3	1	47	184038379	184038379	T	A	1	0	0	0	0	1	0	0	0	7343	1580	55	4		4	HTR3D	3	184038379	Missense_Mutation	SNP	T	C3N-00433_TP	53643049	184038379	14257180	38	14822											
EIF4G1	0	.	GRCh38	chr3	184323799	184323799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacctattccgcagggtgcGctccatcctgaataaactga	10	9	10	12	2	0	2	0	2	0	0	3	3	3	3	4	2	2	2	4	2	4	3	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.2315G>T	p.Arg772Leu	p.R772L	ENST00000424196	15/32	510	479	31	299	298	1	strelka-varscan-mutect	EIF4G1,missense_variant,p.Arg766Leu,ENST00000342981,NM_182917.4;EIF4G1,missense_variant,p.Arg772Leu,ENST00000424196,;EIF4G1,missense_variant,p.Arg725Leu,ENST00000414031,NM_001291157.1;EIF4G1,missense_variant,p.Arg765Leu,ENST00000346169,NM_198241.2;EIF4G1,missense_variant,p.Arg772Leu,ENST00000352767,NM_001194947.1;EIF4G1,missense_variant,p.Arg678Leu,ENST00000392537,NM_198244.2;EIF4G1,missense_variant,p.Arg772Leu,ENST00000382330,NM_001194946.1;EIF4G1,missense_variant,p.Arg679Leu,ENST00000427845,;EIF4G1,missense_variant,p.Arg570Leu,ENST00000434061,NM_004953.4;EIF4G1,missense_variant,p.Arg601Leu,ENST00000350481,NM_198242.2;EIF4G1,missense_variant,p.Arg726Leu,ENST00000411531,;EIF4G1,missense_variant,p.Arg569Leu,ENST00000435046,;EIF4G1,missense_variant,p.Arg602Leu,ENST00000441154,;EIF4G1,missense_variant,p.Arg706Leu,ENST00000426123,;EIF4G1,missense_variant,p.Arg773Leu,ENST00000421110,;EIF4G1,missense_variant,p.Arg766Leu,ENST00000450424,;EIF4G1,missense_variant,p.Arg601Leu,ENST00000444861,;EIF4G1,downstream_gene_variant,,ENST00000457456,;EIF4G1,downstream_gene_variant,,ENST00000427141,;EIF4G1,downstream_gene_variant,,ENST00000456033,;EIF4G1,upstream_gene_variant,,ENST00000448284,;EIF4G1,downstream_gene_variant,,ENST00000427607,;EIF4G1,downstream_gene_variant,,ENST00000440448,;EIF4G1,downstream_gene_variant,,ENST00000444134,;EIF4G1,downstream_gene_variant,,ENST00000428387,;SNORD66,upstream_gene_variant,,ENST00000390856,;EIF4G1,3_prime_UTR_variant,,ENST00000442406,;EIF4G1,3_prime_UTR_variant,,ENST00000413967,;EIF4G1,upstream_gene_variant,,ENST00000460829,;EIF4G1,upstream_gene_variant,,ENST00000475721,;EIF4G1,upstream_gene_variant,,ENST00000422614,;EIF4G1,upstream_gene_variant,,ENST00000464548,;EIF4G1,downstream_gene_variant,,ENST00000484862,;EIF4G1,upstream_gene_variant,,ENST00000466311,;EIF4G1,downstream_gene_variant,,ENST00000493299,;EIF4G1,upstream_gene_variant,,ENST00000482303,;	T	ENST00000424196	Transcript	missense_variant	2704/5653	2315/4821	772/1606	R/L	cGc/cTc		1		1	EIF4G1	HGNC	HGNC:3296	protein_coding	YES	CCDS54687.1	ENSP00000416255	Q04637		UPI00015E0966		deleterious(0)		15/32		Gene3D:1.25.40.180,Pfam_domain:PF02854,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10,SMART_domains:SM00543,Superfamily_domains:SSF48371																	MODERATE	1	SNV	2			1										PASS		rs1381509024	.												T	3	4	47	184323799	184323799	G	T	1	0	0	0	0	1	0	0	0	4870	1087	38	1		1	EIF4G1	3	184323799	Missense_Mutation	SNP	G	C3N-00433_TP	285420	184323799	13971760	39	14823											
LSG1	0	.	GRCh38	chr3	194672094	194672094	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgacgatggcttcggctCcgctgagtctgatggcgcat	5	11	15	10	4	1	3	0	3	1	0	3	4	2	3	1	3	0	4	1	3	0	1	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.69G>T	p.=	p.R23R	ENST00000265245	1/14	428	383	45	194	194	0	strelka-varscan-mutect	LSG1,synonymous_variant,p.=,ENST00000265245,NM_018385.2;LSG1,intron_variant,,ENST00000480853,;LSG1,synonymous_variant,p.=,ENST00000427461,;	A	ENST00000265245	Transcript	synonymous_variant	384/3572	69/1977	23/658	R	cgG/cgT		1		-1	LSG1	HGNC	HGNC:25652	protein_coding	YES	CCDS33922.1	ENSP00000265245	Q9H089		UPI0000DBEEC1	NM_018385.2			1/14		hmmpanther:PTHR11089,hmmpanther:PTHR11089:SF7,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	47	194672094	194672094	C	A	1	0	0	0	0	0	0	0	1	8955	842	30	2		2	LSG1	3	194672094	Silent	SNP	C	C3N-00433_TP	10348295	194672094	3623465	40	14824											
PIGZ	0	.	GRCh38	chr3	196948625	196948625	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagggggaagagcaccgagCggcaggagctgctggggtaa	10	3	20	8	2	0	1	0	0	0	1	0	4	0	3	1	6	4	6	1	6	2	1	rs764613440		C3N-00433_TP	C3N-00433_NB	C	C																c.272G>C	p.Arg91Pro	p.R91P	ENST00000412723	3/3	59	54	5	28	28	0	strelka-mutect	PIGZ,missense_variant,p.Arg91Pro,ENST00000412723,NM_025163.3;PIGZ,intron_variant,,ENST00000413127,;PIGZ,intron_variant,,ENST00000443835,;PIGZ,downstream_gene_variant,,ENST00000238138,;	G	ENST00000412723	Transcript	missense_variant	419/2701	272/1740	91/579	R/P	cGc/cCc	rs764613440	1		-1	PIGZ	HGNC	HGNC:30596	protein_coding	YES	CCDS3324.1	ENSP00000413405	Q86VD9		UPI000013CA2C	NM_025163.3	deleterious(0)		3/3		Pfam_domain:PF03901,hmmpanther:PTHR22760,hmmpanther:PTHR22760:SF3																	MODERATE	1	SNV	1			1										PASS		rs764613440	.												G	3	3	47	196948625	196948625	C	G	1	0	0	0	0	1	0	0	0	11999	768	27	4		4	PIGZ	3	196948625	Missense_Mutation	SNP	C	C3N-00433_TP	2276531	196948625	1346934	41	14825											
FGF5	0	.	GRCh38	chr4	80286614	80286614	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccaaagattcccctttCtgcacctcggaaaaatacca	14	8	5	14	1	1	1	0	0	1	1	3	2	2	2	5	1	3	1	5	1	5	3	rs746528773		C3N-00433_TP	C3N-00433_NB	C	C																c.749C>A	p.Ser250Tyr	p.S250Y	ENST00000312465	3/3	211	198	13	193	193	0	strelka-varscan-mutect	FGF5,missense_variant,p.Ser250Tyr,ENST00000312465,NM_004464.3;FGF5,3_prime_UTR_variant,,ENST00000456523,NM_033143.2;FGF5,non_coding_transcript_exon_variant,,ENST00000503413,;FGF5,intron_variant,,ENST00000507780,;	A	ENST00000312465	Transcript	missense_variant	975/4555	749/807	250/268	S/Y	tCt/tAt	rs746528773	1		1	FGF5	HGNC	HGNC:3683	protein_coding	YES	CCDS34021.1	ENSP00000311697	P12034		UPI0000039721	NM_004464.3	deleterious_low_confidence(0.01)		3/3		hmmpanther:PTHR11486:SF23,hmmpanther:PTHR11486																	MODERATE	1	SNV	1			1										PASS		rs746528773	.												A	3	1	47	80286614	80286614	C	A	1	0	0	0	0	1	0	0	0	5719	913	32	2		2	FGF5	4	80286614	Missense_Mutation	SNP	C	C3N-00433_TP		80286614	109927941	42	14826											
SEC24D	0	.	GRCh38	chr4	118744132	118744132	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttggccaatgagtcataGacatttgtttggggctggaa	9	13	12	7	0	1	2	1	1	0	1	2	3	2	3	2	4	0	2	2	4	3	4	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.1851C>G	p.=	p.V617V	ENST00000280551	15/23	190	178	12	108	108	0	strelka-varscan-mutect	SEC24D,synonymous_variant,p.=,ENST00000280551,NM_001318066.1,NM_014822.2;SEC24D,synonymous_variant,p.=,ENST00000419654,;SEC24D,synonymous_variant,p.=,ENST00000511481,;SEC24D,non_coding_transcript_exon_variant,,ENST00000505134,;SEC24D,non_coding_transcript_exon_variant,,ENST00000511033,;SEC24D,3_prime_UTR_variant,,ENST00000514561,;SEC24D,upstream_gene_variant,,ENST00000502526,;	C	ENST00000280551	Transcript	synonymous_variant	2090/4030	1851/3099	617/1032	V	gtC/gtG		1		-1	SEC24D	HGNC	HGNC:10706	protein_coding	YES	CCDS3710.1	ENSP00000280551	O94855		UPI00001AEA4F	NM_001318066.1,NM_014822.2			15/23		hmmpanther:PTHR13803:SF6,hmmpanther:PTHR13803,Gene3D:3.40.50.410,Pfam_domain:PF04811,Superfamily_domains:SSF53300																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	47	118744132	118744132	G	C	1	0	0	0	0	0	0	0	1	14274	929	33	4		4	SEC24D	4	118744132	Silent	SNP	G	C3N-00433_TP	38457518	118744132	71470423	43	14827											
FAT4	0	.	GRCh38	chr4	125448895	125448895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtctattagtcaacctCtggattttgaaaagatacaa	14	13	8	6	0	3	2	1	1	2	1	3	3	3	3	1	2	2	0	1	2	7	5	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.7879C>A	p.Leu2627Met	p.L2627M	ENST00000394329	9/17	106	97	9	139	139	0	strelka-varscan-mutect	FAT4,missense_variant,p.Leu2627Met,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,missense_variant,p.Leu925Met,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;	A	ENST00000394329	Transcript	missense_variant	7892/16123	7879/14946	2627/4981	L/M	Ctg/Atg		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	deleterious(0.01)		9/17		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	47	125448895	125448895	C	A	1	0	0	0	0	1	0	0	0	5552	912	32	2		2	FAT4	4	125448895	Missense_Mutation	SNP	C	C3N-00433_TP	6704763	125448895	64765660	44	14828											
VEGFC	0	.	GRCh38	chr4	176687346	176687346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catcaaattctcggttggccCcacattggctggggaagagt	9	10	12	10	1	2	1	1	0	1	1	3	2	2	2	2	5	0	2	2	5	2	3	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.986G>A	p.Gly329Glu	p.G329E	ENST00000618562	6/7	339	315	24	223	223	0	strelka-varscan-mutect	VEGFC,missense_variant,p.Gly329Glu,ENST00000618562,NM_005429.4;RP11-313E19.2,intron_variant,,ENST00000509194,;RP11-313E19.2,intron_variant,,ENST00000504017,;VEGFC,downstream_gene_variant,,ENST00000507638,;	T	ENST00000618562	Transcript	missense_variant	1402/2064	986/1260	329/419	G/E	gGg/gAg		1		-1	VEGFC	HGNC	HGNC:12682	protein_coding	YES	CCDS43285.1	ENSP00000480043	P49767		UPI0000001C2A	NM_005429.4	tolerated(0.06)		6/7		hmmpanther:PTHR12025:SF3,hmmpanther:PTHR12025																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	176687346	176687346	C	T	1	0	0	0	0	1	0	0	0	17697	623	22	3		3	VEGFC	4	176687346	Missense_Mutation	SNP	C	C3N-00433_TP	51238451	176687346	13527209	45	14829											
MTMR12	0	.	GRCh38	chr5	32248790	32248790	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccatctaagaagctctttTggatttgtaaaatgccgtca	12	13	7	9	1	3	1	1	0	2	1	3	2	3	2	2	1	2	2	2	1	4	5	novel		C3N-00433_TP	C3N-00433_NB	T	T																c.878A>T	p.Gln293Leu	p.Q293L	ENST00000382142	9/16	154	145	9	165	165	0	strelka-varscan-mutect	MTMR12,missense_variant,p.Gln293Leu,ENST00000382142,NM_001040446.2;MTMR12,missense_variant,p.Gln293Leu,ENST00000280285,NM_001294343.1;MTMR12,missense_variant,p.Gln293Leu,ENST00000264934,NM_001294344.1;MTMR12,non_coding_transcript_exon_variant,,ENST00000504049,;	A	ENST00000382142	Transcript	missense_variant	1049/5187	878/2244	293/747	Q/L	cAa/cTa		1		-1	MTMR12	HGNC	HGNC:18191	protein_coding	YES	CCDS34138.1	ENSP00000371577	Q9C0I1		UPI00001678D2	NM_001040446.2	tolerated(0.07)		9/16		PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF37,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	47	32248790	32248790	T	A	1	0	0	0	0	1	0	0	0	9929	1812	63	4		4	MTMR12	5	32248790	Missense_Mutation	SNP	T	C3N-00433_TP		32248790	149289469	46	14830											
TSSK1B	0	.	GRCh38	chr5	113434526	113434526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctcatgcagggctcccCgggttttgattaactcgagg	6	11	12	12	3	1	1	1	1	0	0	4	2	3	1	3	3	2	3	3	3	1	3	rs770706524		C3N-00433_TP	C3N-00433_NB	C	C																c.314G>A	p.Arg105Gln	p.R105Q	ENST00000390666	1/1	156	142	14	75	75	0	strelka-varscan-mutect	TSSK1B,missense_variant,p.Arg105Gln,ENST00000390666,NM_032028.3;MCC,intron_variant,,ENST00000408903,NM_001085377.1;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000416046,;CTD-2201G3.1,upstream_gene_variant,,ENST00000510381,;	T	ENST00000390666	Transcript	missense_variant	506/2478	314/1104	105/367	R/Q	cGg/cAg	rs770706524,COSM4851927,COSM4851928	1		-1	TSSK1B	HGNC	HGNC:14968	protein_coding	YES	CCDS4112.1	ENSP00000375081	Q9BXA7	A0ZT98	UPI000003C96E	NM_032028.3	tolerated(0.22)		1/1		PROSITE_profiles:PS50011,hmmpanther:PTHR24343:SF76,hmmpanther:PTHR24343,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1,1						MODERATE		SNV			0,1,1	1										PASS		rs770706524	.												T	3	4	47	113434526	113434526	C	T	1	0	0	0	0	1	0	0	0	17176	652	23	1		1	TSSK1B	5	113434526	Missense_Mutation	SNP	C	C3N-00433_TP	81185736	113434526	68103733	47	14831											
ADAMTS19	0	.	GRCh38	chr5	129596651	129596651	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttttacaattgctcatGaaatgggtcacaagtaagta	13	14	8	6	0	2	1	2	1	0	0	2	1	2	1	0	1	3	4	0	1	6	6	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.1447G>T	p.Glu483Ter	p.E483*	ENST00000274487	8/23	64	58	6	104	104	0	strelka-varscan-mutect	ADAMTS19,stop_gained,p.Glu483Ter,ENST00000274487,NM_133638.3;CTC-575N7.1,intron_variant,,ENST00000503616,;	T	ENST00000274487	Transcript	stop_gained	1592/5234	1447/3624	483/1207	E/*	Gaa/Taa		1		1	ADAMTS19	HGNC	HGNC:17111	protein_coding	YES	CCDS4146.1	ENSP00000274487	Q8TE59		UPI000013DA0D	NM_133638.3			8/23		PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF197,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	47	129596651	129596651	G	T	1	0	0	0	0	0	1	0	0	308	1291	45	2		2	ADAMTS19	5	129596651	Nonsense_Mutation	SNP	G	C3N-00433_TP	16162125	129596651	51941608	48	14832											
SHROOM1	0	.	GRCh38	chr5	132823095	132823095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggcgtcctcctcctgccGctgcaggagccggagtcgct	3	9	13	16	4	0	0	0	0	0	0	4	2	3	2	5	3	3	3	5	3	0	1	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.2260C>T	p.Arg754Trp	p.R754W	ENST00000378679	10/10	175	163	12	94	94	0	strelka-varscan-mutect	SHROOM1,missense_variant,p.Arg754Trp,ENST00000378679,NM_001172700.1;SHROOM1,missense_variant,p.Arg754Trp,ENST00000617339,;SHROOM1,missense_variant,p.Arg749Trp,ENST00000319854,NM_133456.2;SHROOM1,missense_variant,p.Arg685Trp,ENST00000378676,;SHROOM1,downstream_gene_variant,,ENST00000440118,;SHROOM1,downstream_gene_variant,,ENST00000488072,;SHROOM1,downstream_gene_variant,,ENST00000495680,;SHROOM1,downstream_gene_variant,,ENST00000606676,;	A	ENST00000378679	Transcript	missense_variant	3065/4019	2260/2559	754/852	R/W	Cgg/Tgg		1		-1	SHROOM1	HGNC	HGNC:24084	protein_coding	YES	CCDS54902.1	ENSP00000367950	Q2M3G4		UPI000036FD4D	NM_001172700.1	deleterious(0)		10/10		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51307,hmmpanther:PTHR15012:SF37,hmmpanther:PTHR15012,Pfam_domain:PF08687																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	47	132823095	132823095	G	A	1	0	0	0	0	1	0	0	0	14556	1086	38	1		1	SHROOM1	5	132823095	Missense_Mutation	SNP	G	C3N-00433_TP	3226444	132823095	48715164	49	14833											
HARS	0	.	GRCh38	chr5	140691249	140691249	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccttctgctgcttgaggcctCgcacgcgctctccctgaagt	4	11	10	16	3	2	2	0	2	2	0	4	2	2	2	3	1	2	4	3	1	1	2			C3N-00433_TP	C3N-00433_NB	C	C																c.56G>C	p.Arg19Pro	p.R19P	ENST00000504156	1/13	121	113	8	51	51	0	strelka-mutect	HARS,missense_variant,p.Arg19Pro,ENST00000504156,NM_001289094.1,NM_002109.5;HARS,missense_variant,p.Arg19Pro,ENST00000457527,NM_001258041.2;HARS,missense_variant,p.Arg19Pro,ENST00000438307,NM_001258040.2;HARS,missense_variant,p.Arg19Pro,ENST00000307633,NM_001258042.2;HARS,missense_variant,p.Arg19Pro,ENST00000431330,NM_001289093.1;HARS,missense_variant,p.Arg19Pro,ENST00000415192,NM_001289092.1;HARS,missense_variant,p.Arg19Pro,ENST00000507746,;HARS2,upstream_gene_variant,,ENST00000230771,NM_012208.3;HARS2,upstream_gene_variant,,ENST00000508522,NM_001278731.1;HARS2,upstream_gene_variant,,ENST00000448069,;HARS2,upstream_gene_variant,,ENST00000509299,;HARS2,upstream_gene_variant,,ENST00000503873,;HARS2,upstream_gene_variant,,ENST00000502303,;HARS,missense_variant,p.Arg19Pro,ENST00000512396,;HARS,non_coding_transcript_exon_variant,,ENST00000506579,;HARS,non_coding_transcript_exon_variant,,ENST00000518126,;HARS,non_coding_transcript_exon_variant,,ENST00000502888,;HARS2,upstream_gene_variant,,ENST00000510104,;HARS2,upstream_gene_variant,,ENST00000513688,;HARS2,upstream_gene_variant,,ENST00000511913,;HARS2,upstream_gene_variant,,ENST00000506318,;HARS2,upstream_gene_variant,,ENST00000520095,;HARS2,upstream_gene_variant,,ENST00000513912,;	G	ENST00000504156	Transcript	missense_variant	776/3334	56/1530	19/509	R/P	cGa/cCa	COSM1486343,COSM1486344,COSM5297249,COSM5297250	1		-1	HARS	HGNC	HGNC:4816	protein_coding	YES	CCDS4237.1	ENSP00000425634	P12081		UPI00001364CE	NM_001289094.1,NM_002109.5	deleterious(0)		1/13		PROSITE_profiles:PS51185,hmmpanther:PTHR11476,hmmpanther:PTHR11476:SF8,PROSITE_patterns:PS00762,Pfam_domain:PF00458,Gene3D:1.10.287.10,SMART_domains:SM00991,Superfamily_domains:SSF47060											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												G	3	3	47	140691249	140691249	C	G	1	0	0	0	0	1	0	0	0	6845	884	31	4		4	HARS	5	140691249	Missense_Mutation	SNP	C	C3N-00433_TP	7868154	140691249	40847010	50	14834											
PCDHA2	0	.	GRCh38	chr5	140795944	140795944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactgcaactgacaaaggaaCcccttcaatgtcaggacatt	14	8	7	12	0	2	1	2	1	0	0	2	3	2	3	2	2	3	1	2	2	4	2	rs200424378		C3N-00433_TP	C3N-00433_NB	C	C																c.980C>G	p.Thr327Ser	p.T327S	ENST00000526136	1/4	194	179	15	167	167	0	strelka-varscan-mutect	PCDHA2,missense_variant,p.Thr327Ser,ENST00000526136,NM_018905.2;PCDHA2,missense_variant,p.Thr327Ser,ENST00000520672,NM_031496.1;PCDHA2,missense_variant,p.Thr327Ser,ENST00000378132,NM_031495.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,intron_variant,,ENST00000624176,;	G	ENST00000526136	Transcript	missense_variant	980/5254	980/2847	327/948	T/S	aCc/aGc	rs200424378	1		1	PCDHA2	HGNC	HGNC:8668	protein_coding	YES	CCDS54914.1	ENSP00000431748	Q9Y5H9		UPI00001273C9	NM_018905.2	tolerated_low_confidence(0.53)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs200424378	.												G	3	3	47	140795944	140795944	C	G	1	0	0	0	0	1	0	0	0	11611	507	18	4		4	PCDHA2	5	140795944	Missense_Mutation	SNP	C	C3N-00433_TP	104695	140795944	40742315	51	14835											
PCDHB5	0	.	GRCh38	chr5	141137645	141137645	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagggcatctggtggaCgtgagcggcaccgggaccct	6	8	15	12	3	1	1	0	1	1	0	2	3	2	3	3	5	1	2	3	5	0	1	rs200613472		C3N-00433_TP	C3N-00433_NB	C	C																c.2211C>A	p.Asp737Glu	p.D737E	ENST00000231134	1/1	471	447	24	243	243	0	varscan-mutect	PCDHB5,missense_variant,p.Asp737Glu,ENST00000231134,NM_015669.4;PCDHB5,downstream_gene_variant,,ENST00000623915,;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;	A	ENST00000231134	Transcript	missense_variant	2428/3408	2211/2388	737/795	D/E	gaC/gaA	rs200613472,COSM5344849	1		1	PCDHB5	HGNC	HGNC:8690	protein_coding	YES	CCDS4247.1	ENSP00000231134	Q9Y5E4		UPI0000169DEA	NM_015669.4	deleterious_low_confidence(0.02)		1/1		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF90											0,1						MODERATE	1	SNV			0,1	1										PASS		rs200613472	.												A	3	1	47	141137645	141137645	C	A	1	0	0	0	0	1	0	0	0	11632	535	19	1		1	PCDHB5	5	141137645	Missense_Mutation	SNP	C	C3N-00433_TP	341701	141137645	40400614	52	14836											
SLC26A2	0	.	GRCh38	chr5	149981018	149981018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctagtaatagctcctttgttCtattcccttcaaaaaagtgt	11	16	5	9	0	2	0	1	0	1	0	4	0	4	0	2	0	1	3	2	0	7	8	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.1425C>T	p.=	p.F475F	ENST00000286298	3/3	178	166	12	229	229	0	strelka-varscan-mutect	SLC26A2,synonymous_variant,p.=,ENST00000286298,NM_000112.3;SLC26A2,intron_variant,,ENST00000503336,;SLC26A2,downstream_gene_variant,,ENST00000433184,;	T	ENST00000286298	Transcript	synonymous_variant	1693/8080	1425/2220	475/739	F	ttC/ttT		1		1	SLC26A2	HGNC	HGNC:10994	protein_coding	YES	CCDS4300.1	ENSP00000286298	P50443		UPI000013DE3D	NM_000112.3			3/3		Transmembrane_helices:TMhelix,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF16,Pfam_domain:PF00916,TIGRFAM_domain:TIGR00815																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	47	149981018	149981018	C	T	1	0	0	0	0	0	0	0	1	14787	912	32	3		3	SLC26A2	5	149981018	Silent	SNP	C	C3N-00433_TP	8843373	149981018	31557241	53	14837											
GABRG2	0	.	GRCh38	chr5	162153197	162153197	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgagtgtctggacggCaaggactgtgccagtttttt	7	13	14	7	1	1	1	0	1	1	0	1	3	1	3	1	4	1	3	1	4	2	4	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.1377C>A	p.=	p.G459G	ENST00000414552	11/11	489	460	29	417	416	1	strelka-varscan-mutect	GABRG2,synonymous_variant,p.=,ENST00000356592,NM_198904.2;GABRG2,synonymous_variant,p.=,ENST00000414552,NM_198903.2;GABRG2,synonymous_variant,p.=,ENST00000361925,NM_000816.3;GABRG2,downstream_gene_variant,,ENST00000522053,;GABRG2,3_prime_UTR_variant,,ENST00000522990,;GABRG2,3_prime_UTR_variant,,ENST00000523372,;	A	ENST00000414552	Transcript	synonymous_variant	1602/3927	1377/1548	459/515	G	ggC/ggA		1		1	GABRG2	HGNC	HGNC:4087	protein_coding	YES	CCDS47333.1	ENSP00000410732	P18507		UPI00017503BD	NM_198903.2			11/11		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF498,Superfamily_domains:SSF90112,Prints_domain:PR01620																	LOW	1	SNV	1			1										PASS		rs1414655532	.												A	2	1	47	162153197	162153197	C	A	1	0	0	0	0	0	0	0	1	6043	697	25	2		2	GABRG2	5	162153197	Silent	SNP	C	C3N-00433_TP	12172179	162153197	19385062	54	14838											
SLIT3	0	.	GRCh38	chr5	168685821	168685821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtgggcagcggcaggtggGctcctgctgcaccacgatgc	5	7	17	12	2	0	0	0	0	0	0	1	1	1	0	2	5	4	5	2	5	0	0	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.3442C>A	p.Pro1148Thr	p.P1148T	ENST00000332966	31/36	224	212	12	102	102	0	strelka-varscan-mutect	SLIT3,missense_variant,p.Pro1141Thr,ENST00000519560,NM_003062.3;SLIT3,missense_variant,p.Pro1011Thr,ENST00000404867,;SLIT3,missense_variant,p.Pro1148Thr,ENST00000332966,NM_001271946.1;SLIT3,non_coding_transcript_exon_variant,,ENST00000518092,;	T	ENST00000332966	Transcript	missense_variant	3515/4895	3442/4593	1148/1530	P/T	Ccc/Acc		1		-1	SLIT3	HGNC	HGNC:11087	protein_coding	YES	CCDS64311.1	ENSP00000332164	O75094		UPI0001E8F75D	NM_001271946.1	tolerated(0.05)		31/36		PROSITE_profiles:PS50026,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Pfam_domain:PF00008,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	168685821	168685821	G	T	1	0	0	0	0	1	0	0	0	15032	1203	42	2		2	SLIT3	5	168685821	Missense_Mutation	SNP	G	C3N-00433_TP	6532624	168685821	12852438	55	14839											
CPEB4	0	.	GRCh38	chr5	173956111	173956111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaaggcggtgaccgccctCggcatatttcattccgctgg	7	9	13	12	4	1	1	1	1	0	0	3	2	2	2	3	5	0	2	3	5	2	3	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.2164C>T	p.Arg722Trp	p.R722W	ENST00000265085	10/10	341	323	18	168	168	0	strelka-varscan-mutect	CPEB4,missense_variant,p.Arg722Trp,ENST00000265085,NM_030627.2;CPEB4,missense_variant,p.Arg705Trp,ENST00000334035,NM_001308189.1;CPEB4,missense_variant,p.Arg697Trp,ENST00000520867,NM_001308191.1;CPEB4,missense_variant,p.Arg332Trp,ENST00000522336,;CPEB4,missense_variant,p.Arg315Trp,ENST00000517880,;CPEB4,downstream_gene_variant,,ENST00000519835,;CPEB4,non_coding_transcript_exon_variant,,ENST00000519467,;	T	ENST00000265085	Transcript	missense_variant	3618/9483	2164/2190	722/729	R/W	Cgg/Tgg		1		1	CPEB4	HGNC	HGNC:21747	protein_coding	YES	CCDS4390.1	ENSP00000265085	Q17RY0		UPI000020C179	NM_030627.2	deleterious(0)		10/10		hmmpanther:PTHR12566:SF2,hmmpanther:PTHR12566																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	173956111	173956111	C	T	1	0	0	0	0	1	0	0	0	3597	875	31	1		1	CPEB4	5	173956111	Missense_Mutation	SNP	C	C3N-00433_TP	5270290	173956111	7582148	56	14840											
RPP40	0	.	GRCh38	chr6	4996022	4996022	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtacacaaataagctttTgccaccactgtgcttggctc	10	13	7	11	0	0	0	0	0	0	0	1	0	0	0	2	1	4	4	2	1	3	6	novel		C3N-00433_TP	C3N-00433_NB	T	T																c.822A>C	p.=	p.A274A	ENST00000380051	7/8	217	204	13	224	223	1	strelka-varscan-mutect	RPP40,synonymous_variant,p.=,ENST00000380051,NM_006638.3;RPP40,synonymous_variant,p.=,ENST00000319533,NM_001286132.1;RPP40,synonymous_variant,p.=,ENST00000618533,NM_001286133.1;RPP40,synonymous_variant,p.=,ENST00000464646,;RPP40,downstream_gene_variant,,ENST00000468105,;RPP40,downstream_gene_variant,,ENST00000479782,;	G	ENST00000380051	Transcript	synonymous_variant	867/1483	822/1092	274/363	A	gcA/gcC		1		-1	RPP40	HGNC	HGNC:20992	protein_coding	YES	CCDS34333.1	ENSP00000369391	O75818		UPI000020E473	NM_006638.3			7/8		Pfam_domain:PF08584,hmmpanther:PTHR15396,hmmpanther:PTHR15396:SF1																	LOW	1	SNV	5			1										PASS		rs780553257	.												G	2	3	47	4996022	4996022	T	G	1	0	0	0	0	0	0	0	1	13868	1799	63	5		5	RPP40	6	4996022	Silent	SNP	T	C3N-00433_TP		4996022	165809957	57	14841											
NRN1	0	.	GRCh38	chr6	5999090	5999090	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagagttcgaataagctGccttggatgttgaggttttt	8	14	12	7	2	0	2	0	1	0	1	1	4	0	3	2	2	2	5	2	2	2	6	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.393C>A	p.=	p.G131G	ENST00000622188	4/4	576	544	32	332	331	1	strelka-varscan-mutect	NRN1,synonymous_variant,p.=,ENST00000622188,NM_001278711.1;NRN1,synonymous_variant,p.=,ENST00000244766,NM_016588.2;NRN1,synonymous_variant,p.=,ENST00000616243,NM_001278710.1;NRN1,non_coding_transcript_exon_variant,,ENST00000495850,;	T	ENST00000622188	Transcript	synonymous_variant	707/1795	393/507	131/168	G	ggC/ggA		1		-1	NRN1	HGNC	HGNC:17972	protein_coding	YES	CCDS75393.1	ENSP00000480483		A0A087WWT2	UPI000020E485	NM_001278711.1			4/4		hmmpanther:PTHR15902,hmmpanther:PTHR15902:SF1,Pfam_domain:PF15056																	LOW	1	SNV	2			1										PASS		rs904570056	.												T	2	4	47	5999090	5999090	G	T	1	0	0	0	0	0	0	0	1	10716	1306	46	2		2	NRN1	6	5999090	Silent	SNP	G	C3N-00433_TP	1003068	5999090	164806889	58	14842											
RREB1	0	.	GRCh38	chr6	7246988	7246988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtggtggagtcggccccggGtgccggggaggccccggcgg	2	4	23	12	5	0	0	0	0	0	0	1	2	0	2	5	10	1	0	5	10	0	0	rs369802211		C3N-00433_TP	C3N-00433_NB	G	G																c.4538G>A	p.Gly1513Asp	p.G1513D	ENST00000379938	12/13	222	209	13	114	114	0	strelka-varscan-mutect	RREB1,missense_variant,p.Gly1513Asp,ENST00000379938,NM_001003699.3;RREB1,missense_variant,p.Gly1458Asp,ENST00000349384,NM_001003698.3;RREB1,missense_variant,p.Gly1458Asp,ENST00000379933,NM_001168344.1;RREB1,missense_variant,p.Gly526Asp,ENST00000611109,;RREB1,intron_variant,,ENST00000334984,NM_001003700.1;	A	ENST00000379938	Transcript	missense_variant	5075/8778	4538/5229	1513/1742	G/D	gGt/gAt	rs369802211	1		1	RREB1	HGNC	HGNC:10449	protein_coding	YES	CCDS34335.1	ENSP00000369270	Q92766		UPI000020E496	NM_001003699.3	tolerated(0.61)		12/13		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF42,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs369802211	.												A	3	1	47	7246988	7246988	G	A	1	0	0	0	0	1	0	0	0	13933	1261	44	3		3	RREB1	6	7246988	Missense_Mutation	SNP	G	C3N-00433_TP	1247898	7246988	163558991	59	14843											
OR2J3	0	.	GRCh38	chr6	29112301	29112301	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agacctttgcattacactgtCctcatgcaccctcgtttctg	7	14	6	14	1	2	1	1	0	1	1	4	1	3	1	3	0	3	3	3	0	1	3	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.411C>T	p.=	p.V137V	ENST00000377169	1/1	230	214	16	208	208	0	varscan-mutect	OR2J3,synonymous_variant,p.=,ENST00000377169,NM_001005216.3;	T	ENST00000377169	Transcript	synonymous_variant	411/936	411/936	137/311	V	gtC/gtT		1		1	OR2J3	HGNC	HGNC:8261	protein_coding	YES	CCDS43433.1	ENSP00000366374	O76001	A0A126GWT2	UPI000014073A	NM_001005216.3			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF209,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	47	29112301	29112301	C	T	1	0	0	0	0	0	0	0	1	11082	842	30	3		3	OR2J3	6	29112301	Silent	SNP	C	C3N-00433_TP	21865313	29112301	141693678	60	14844											
TEAD3	0	.	GRCh38	chr6	35475381	35475381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgctgttcatcatgtacttCtcgggcaggtgcttcagctt	6	14	10	11	2	4	0	3	0	1	0	5	0	4	0	0	2	3	6	0	2	1	5	rs200643703		C3N-00433_TP	C3N-00433_NB	C	C																c.1149G>A	p.=	p.E383E	ENST00000338863	12/13	257	233	24	130	130	0	strelka-varscan-mutect	TEAD3,synonymous_variant,p.=,ENST00000338863,NM_003214.3;TEAD3,synonymous_variant,p.=,ENST00000402886,;RPL10A,downstream_gene_variant,,ENST00000322203,NM_007104.4;TEAD3,downstream_gene_variant,,ENST00000433586,;MIR7111,downstream_gene_variant,,ENST00000619751,;RPL10A,downstream_gene_variant,,ENST00000467020,;RPL10A,downstream_gene_variant,,ENST00000464112,;RPL10A,downstream_gene_variant,,ENST00000478340,;RPL10A,downstream_gene_variant,,ENST00000490335,;	T	ENST00000338863	Transcript	synonymous_variant	1377/2983	1149/1308	383/435	E	gaG/gaA	rs200643703	1		-1	TEAD3	HGNC	HGNC:11716	protein_coding	YES	CCDS47414.1	ENSP00000345772	Q99594		UPI000015C249	NM_003214.3			12/13		hmmpanther:PTHR11834:SF1,hmmpanther:PTHR11834,PIRSF_domain:PIRSF002603,PIRSF_domain:PIRSF500720																	LOW	1	SNV	1			1										PASS		rs200643703	.												T	2	4	47	35475381	35475381	C	T	1	0	0	0	0	0	0	0	1	16151	912	32	3		3	TEAD3	6	35475381	Silent	SNP	C	C3N-00433_TP	6363080	35475381	135330598	61	14845											
KIF6	0	.	GRCh38	chr6	39639647	39639647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtatgacagtgtccttGggataatgcctctgtcactg	10	13	10	8	0	2	1	1	1	1	0	3	2	3	2	2	1	1	1	2	1	3	3	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.362C>A	p.Pro121Gln	p.P121Q	ENST00000287152	4/23	120	106	14	148	148	0	strelka-varscan-mutect	KIF6,missense_variant,p.Pro121Gln,ENST00000287152,NM_145027.4,NM_001289021.1,NM_001289020.1;KIF6,missense_variant,p.Pro13Gln,ENST00000458470,;KIF6,5_prime_UTR_variant,,ENST00000538893,;KIF6,downstream_gene_variant,,ENST00000482238,;	T	ENST00000287152	Transcript	missense_variant	457/9082	362/2445	121/814	P/Q	cCa/cAa		1		-1	KIF6	HGNC	HGNC:21202	protein_coding	YES	CCDS4844.1	ENSP00000287152	Q6ZMV9		UPI0000457436	NM_145027.4,NM_001289021.1,NM_001289020.1	deleterious(0)		4/23		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF194,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	47	39639647	39639647	G	T	1	0	0	0	0	1	0	0	0	8173	1348	47	2		2	KIF6	6	39639647	Missense_Mutation	SNP	G	C3N-00433_TP	4164266	39639647	131166332	62	14846											
TTBK1	0	.	GRCh38	chr6	43262925	43262925	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcagcctctgtggagcagGaggccctgagcaacgccttc	7	8	13	13	1	2	1	1	1	1	0	3	3	2	3	3	3	4	2	3	3	1	1	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.1561G>T	p.Glu521Ter	p.E521*	ENST00000259750	13/15	334	302	32	158	158	0	strelka-varscan-mutect	TTBK1,stop_gained,p.Glu521Ter,ENST00000259750,NM_032538.1;TTBK1,stop_gained,p.Glu470Ter,ENST00000304139,;	T	ENST00000259750	Transcript	stop_gained	1644/6932	1561/3966	521/1321	E/*	Gag/Tag		1		1	TTBK1	HGNC	HGNC:19140	protein_coding	YES	CCDS34455.1	ENSP00000259750	Q5TCY1		UPI000041512B	NM_032538.1			13/15		hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF130																	HIGH	1	SNV	1			1										PASS		rs1452942761	.												T	4	4	47	43262925	43262925	G	T	1	0	0	0	0	0	1	0	0	17186	1175	41	2		2	TTBK1	6	43262925	Nonsense_Mutation	SNP	G	C3N-00433_TP	3623278	43262925	127543054	63	14847											
CAPN11	0	.	GRCh38	chr6	44177364	44177364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaatgcagaagaactggCggcatgcacggcagcaggga	12	4	14	11	2	0	2	0	0	0	2	0	3	0	3	1	4	4	5	1	4	3	1	rs201179894		C3N-00433_TP	C3N-00433_NB	C	C																c.1360C>T	p.Arg454Trp	p.R454W	ENST00000398776	12/23	272	244	28	135	135	0	strelka-varscan-mutect	CAPN11,missense_variant,p.Arg454Trp,ENST00000398776,NM_007058.3;CAPN11,non_coding_transcript_exon_variant,,ENST00000524554,;CAPN11,non_coding_transcript_exon_variant,,ENST00000533604,;	T	ENST00000398776	Transcript	missense_variant	1398/2728	1360/2220	454/739	R/W	Cgg/Tgg	rs201179894	1		1	CAPN11	HGNC	HGNC:1478	protein_coding	YES	CCDS47436.1	ENSP00000381758	Q9UMQ6		UPI00000383D5	NM_007058.3	deleterious(0.01)		12/23		Gene3D:2.60.120.380,Pfam_domain:PF01067,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF322,SMART_domains:SM00720,Superfamily_domains:SSF49758																	MODERATE	1	SNV	1			1										PASS		rs201179894	.												T	3	4	47	44177364	44177364	C	T	1	0	0	0	0	1	0	0	0	2316	759	27	1		1	CAPN11	6	44177364	Missense_Mutation	SNP	C	C3N-00433_TP	914439	44177364	126628615	64	14848											
GJB7	0	.	GRCh38	chr6	87284743	87284743	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatttttgcaaccgggcTgtctactgttgcactcaaac	10	12	7	12	1	2	0	1	0	1	0	2	0	2	0	1	1	5	4	1	1	3	4	novel		C3N-00433_TP	C3N-00433_NB	T	T																c.170A>T	p.Gln57Leu	p.Q57L	ENST00000525899	3/3	196	185	11	164	164	0	strelka-varscan-mutect	GJB7,missense_variant,p.Gln57Leu,ENST00000525899,NM_198568.2;GJB7,missense_variant,p.Gln57Leu,ENST00000369576,;	A	ENST00000525899	Transcript	missense_variant	516/2281	170/672	57/223	Q/L	cAg/cTg		1		-1	GJB7	HGNC	HGNC:16690	protein_coding	YES	CCDS5008.1	ENSP00000435355	Q6PEY0		UPI000013E3A1	NM_198568.2	deleterious(0)		3/3		Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF26,SMART_domains:SM00037																	MODERATE	1	SNV	1			1										PASS		rs1343805036	.												A	3	1	47	87284743	87284743	T	A	1	0	0	0	0	1	0	0	0	6290	1580	55	4		4	GJB7	6	87284743	Missense_Mutation	SNP	T	C3N-00433_TP	43107379	87284743	83521236	65	14849											
METTL24	0	.	GRCh38	chr6	110315343	110315343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaaaaatgtactcaccCtaaggagtagaggcggcact	15	8	10	8	1	1	1	1	0	0	1	1	2	1	2	1	3	1	4	1	3	7	4	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.556G>A	p.Gly186Arg	p.G186R	ENST00000338882	3/5	143	135	8	147	147	0	strelka-varscan-mutect	METTL24,missense_variant,p.Gly186Arg,ENST00000338882,NM_001123364.1;	T	ENST00000338882	Transcript	missense_variant,splice_region_variant	556/1119	556/1101	186/366	G/R	Ggg/Agg		1		-1	METTL24	HGNC	HGNC:21566	protein_coding	YES	CCDS43489.1	ENSP00000344071	Q5JXM2		UPI0000470C21	NM_001123364.1	deleterious(0.05)		3/5		hmmpanther:PTHR32026,Pfam_domain:PF13383																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	47	110315343	110315343	C	T	1	0	0	0	0	1	0	0	0	9450	695	24	3		3	METTL24	6	110315343	Missense_Mutation	SNP	C	C3N-00433_TP	23030600	110315343	60490636	66	14850											
MEOX2	0	.	GRCh38	chr7	15612388	15612388	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggtcctctgtttatatCataagtgcgcatgctctgag	8	14	10	9	1	3	1	1	1	2	0	4	1	4	1	1	1	3	4	1	1	3	4			C3N-00433_TP	C3N-00433_NB	C	C																c.914G>A	p.=	p.*305*	ENST00000262041	3/3	178	166	12	159	159	0	strelka-varscan-mutect	MEOX2,stop_retained_variant,p.=,ENST00000262041,NM_005924.4;	T	ENST00000262041	Transcript	stop_retained_variant	1324/2500	914/915	305/304	*	tGa/tAa	COSM4562173	1		-1	MEOX2	HGNC	HGNC:7014	protein_coding	YES	CCDS34605.1	ENSP00000262041	P50222		UPI000013D247	NM_005924.4			3/3													1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	47	15612388	15612388	C	T	1	0	0	0	0	0	0	0	1	9419	837	29	3		3	MEOX2	7	15612388	Silent	SNP	C	C3N-00433_TP		15612388	143733585	67	14851											
SPDYE5	0	.	GRCh38	chr7	75495312	75495312	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgggctcaagatgaagcTgaagcaacagcgagtgtcac	12	7	14	8	1	2	3	2	2	0	1	2	4	2	3	0	1	4	3	0	1	4	0	novel		C3N-00433_TP	C3N-00433_NB	T	T																c.317T>A	p.Leu106Gln	p.L106Q	ENST00000625065	2/8	357	335	22	208	208	0	varscan-mutect	SPDYE5,missense_variant,p.Leu66Gln,ENST00000624640,NM_001099435.2;SPDYE5,missense_variant,p.Leu106Gln,ENST00000625065,;SPDYE5,missense_variant,p.Leu106Gln,ENST00000455862,;	A	ENST00000625065	Transcript	missense_variant	740/1700	317/1209	106/402	L/Q	cTg/cAg		1		1	SPDYE5	HGNC	HGNC:35464	protein_coding	YES	CCDS78241.1	ENSP00000485398		A0A096LPK5	UPI000387D8EA		deleterious(0)		2/8		hmmpanther:PTHR31156,hmmpanther:PTHR31156:SF15																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	47	75495312	75495312	T	A	1	0	0	0	0	1	0	0	0	15381	1580	55	4		4	SPDYE5	7	75495312	Missense_Mutation	SNP	T	C3N-00433_TP	59882924	75495312	83850661	68	14852											
ABCB4	0	.	GRCh38	chr7	87431566	87431566	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccggccttctctggcCtaaaagaacaaaaatgtggt	11	10	11	9	1	1	1	0	0	1	1	3	1	2	1	3	4	1	0	3	4	5	2	rs764331138		C3N-00433_TP	C3N-00433_NB	C	C																c.1732-1G>T		p.X578_splice	ENST00000265723		485	457	28	338	336	2	strelka-mutect	ABCB4,splice_acceptor_variant,,ENST00000265723,NM_018849.2;ABCB4,splice_acceptor_variant,,ENST00000359206,NM_000443.3;ABCB4,splice_acceptor_variant,,ENST00000358400,NM_018850.2;ABCB4,splice_acceptor_variant,,ENST00000453593,;ABCB4,upstream_gene_variant,,ENST00000469770,;	A	ENST00000265723	Transcript	splice_acceptor_variant	-/4020	1732/3861	578/1286			rs764331138	1		-1	ABCB4	HGNC	HGNC:45	protein_coding	YES	CCDS5606.1	ENSP00000265723	P21439		UPI000013D66B	NM_018849.2				14/27																		HIGH	1	SNV	1			1										PASS		rs764331138	.												A	5	1	47	87431566	87431566	C	A	1	0	0	0	0	0	0	1	0	47	695	24	2		2	ABCB4	7	87431566	Splice_Site	SNP	C	C3N-00433_TP	11936254	87431566	71914407	69	14853											
TSPAN12	0	.	GRCh38	chr7	120806653	120806653	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtccatctctgtcatttCcaaccagtcagtgaaatata	12	12	5	12	0	3	1	2	1	1	0	6	1	5	1	4	0	1	0	4	0	4	3	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.508G>T	p.Glu170Ter	p.E170*	ENST00000222747	7/8	227	211	16	236	236	0	strelka-varscan-mutect	TSPAN12,stop_gained,p.Glu170Ter,ENST00000222747,NM_012338.3;TSPAN12,stop_gained,p.Glu170Ter,ENST00000415871,;TSPAN12,downstream_gene_variant,,ENST00000441017,;TSPAN12,3_prime_UTR_variant,,ENST00000450414,;	A	ENST00000222747	Transcript	stop_gained	1116/2798	508/918	170/305	E/*	Gaa/Taa		1		-1	TSPAN12	HGNC	HGNC:21641	protein_coding	YES	CCDS5777.1	ENSP00000222747	O95859	A0A024R740	UPI00000389F8	NM_012338.3			7/8		Superfamily_domains:0037997,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF26																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	47	120806653	120806653	C	A	1	0	0	0	0	0	1	0	0	17141	864	30	2		2	TSPAN12	7	120806653	Nonsense_Mutation	SNP	C	C3N-00433_TP	33375087	120806653	38539320	70	14854											
WHSC1L1	0	.	GRCh38	chr8	38288731	38288731	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtcagcaacctggatcTgcacctttcctattactttg	9	13	7	12	0	2	0	1	0	1	0	3	1	3	1	3	2	4	2	3	2	3	4	novel		C3N-00433_TP	C3N-00433_NB	T	T																c.3257A>T	p.Gln1086Leu	p.Q1086L	ENST00000317025	19/24	230	214	16	204	204	0	strelka-varscan-mutect	WHSC1L1,missense_variant,p.Gln1086Leu,ENST00000317025,NM_023034.1;WHSC1L1,missense_variant,p.Gln1037Leu,ENST00000433384,;WHSC1L1,missense_variant,p.Gln1086Leu,ENST00000527502,;WHSC1L1,downstream_gene_variant,,ENST00000526050,;	A	ENST00000317025	Transcript	missense_variant	3775/10776	3257/4314	1086/1437	Q/L	cAg/cTg		1		-1	WHSC1L1	HGNC	HGNC:12767	protein_coding	YES	CCDS43729.1	ENSP00000313983	Q9BZ95		UPI000006F297	NM_023034.1	deleterious(0.02)		19/24		hmmpanther:PTHR22884:SF371,hmmpanther:PTHR22884,Gene3D:2.170.270.10,Superfamily_domains:SSF82199																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	47	38288731	38288731	T	A	1	0	0	0	0	1	0	0	0	17921	1580	55	4		4	WHSC1L1	8	38288731	Missense_Mutation	SNP	T	C3N-00433_TP		38288731	106849905	71	14855											
EYA1	0	.	GRCh38	chr8	71199407	71199407	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggctggagatcctccagAagggcatcgcgtgctgcagc	8	7	15	11	2	0	2	0	0	0	2	3	3	2	2	2	3	3	4	2	3	1	0	novel		C3N-00433_TP	C3N-00433_NB	A	A																c.1712T>C	p.Phe571Ser	p.F571S	ENST00000340726	18/18	762	712	50	464	464	0	strelka-varscan-mutect	EYA1,missense_variant,p.Phe571Ser,ENST00000340726,NM_000503.5;EYA1,missense_variant,p.Phe565Ser,ENST00000303824,NM_001288575.1,NM_001288574.1;EYA1,missense_variant,p.Phe571Ser,ENST00000388742,NM_172058.3;EYA1,missense_variant,p.Phe538Ser,ENST00000388740,NM_172060.3;EYA1,missense_variant,p.Phe537Ser,ENST00000388741,;EYA1,missense_variant,p.Phe570Ser,ENST00000388743,;EYA1,missense_variant,p.Phe536Ser,ENST00000419131,NM_172059.3;RP11-326E22.1,intron_variant,,ENST00000521685,;EYA1,3_prime_UTR_variant,,ENST00000465115,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;	G	ENST00000340726	Transcript	missense_variant	2352/4326	1712/1779	571/592	F/S	tTc/tCc		1		-1	EYA1	HGNC	HGNC:3519	protein_coding	YES	CCDS34906.1	ENSP00000342626	Q99502	A0A024R813	UPI000012A3B3	NM_000503.5	deleterious(0)		18/18		hmmpanther:PTHR10190,hmmpanther:PTHR10190:SF11,TIGRFAM_domain:TIGR01658																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	47	71199407	71199407	A	G	1	0	0	0	0	1	0	0	0	5196	246	9	5		5	EYA1	8	71199407	Missense_Mutation	SNP	A	C3N-00433_TP	32910676	71199407	73939229	72	14856											
ZFHX4	0	.	GRCh38	chr8	76854454	76854454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggaactctggcaggaacaCcagcacatgcacttccttgc	10	8	9	14	0	1	0	0	0	1	0	2	2	2	2	2	3	5	3	2	3	2	2			C3N-00433_TP	C3N-00433_NB	C	C																c.7533C>A	p.His2511Gln	p.H2511Q	ENST00000521891	10/11	372	349	23	275	275	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.His2511Gln,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.His2485Gln,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	A	ENST00000521891	Transcript	missense_variant	7981/14019	7533/10851	2511/3616	H/Q	caC/caA	COSM5241300,COSM606360	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0)		10/11		PROSITE_patterns:PS00028,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00355											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs772117997	.												A	3	1	47	76854454	76854454	C	A	1	0	0	0	0	1	0	0	0	18213	506	18	2		2	ZFHX4	8	76854454	Missense_Mutation	SNP	C	C3N-00433_TP	5655047	76854454	68284182	73	14857											
SLC7A13	0	.	GRCh38	chr8	86230211	86230211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccaatgatattaataaGcaaaaaacttgtgccccacc	16	9	5	11	0	0	1	0	1	0	0	0	1	0	1	4	0	4	2	4	0	7	4	rs755810642		C3N-00433_TP	C3N-00433_NB	G	G																c.67C>A	p.Leu23Ile	p.L23I	ENST00000297524	1/4	87	79	8	84	83	1	strelka-varscan-mutect	SLC7A13,missense_variant,p.Leu23Ile,ENST00000297524,NM_138817.2;SLC7A13,missense_variant,p.Leu23Ile,ENST00000419776,;SLC7A13,intron_variant,,ENST00000520624,;	T	ENST00000297524	Transcript	missense_variant	171/1878	67/1413	23/470	L/I	Ctt/Att	rs755810642	1		-1	SLC7A13	HGNC	HGNC:23092	protein_coding	YES	CCDS34917.1	ENSP00000297524	Q8TCU3		UPI000006DF39	NM_138817.2	tolerated(1)		1/4		Transmembrane_helices:TMhelix,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF238,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060																	MODERATE	1	SNV	1			1										PASS		rs755810642	.												T	3	4	47	86230211	86230211	G	T	1	0	0	0	0	1	0	0	0	14978	971	34	2		2	SLC7A13	8	86230211	Missense_Mutation	SNP	G	C3N-00433_TP	9375757	86230211	58908425	74	14858											
PUM3	0	.	GRCh38	chr9	2811383	2811383	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtccttgccaccaggaTgcagtcctgttgctgccaag	6	10	10	15	1	0	0	0	0	0	0	3	1	3	1	6	1	4	3	6	1	1	2	rs776874507		C3N-00433_TP	C3N-00433_NB	T	T																c.1613A>C	p.His538Pro	p.H538P	ENST00000397885	15/18	311	287	24	174	174	0	strelka-varscan-mutect	PUM3,missense_variant,p.His538Pro,ENST00000397885,NM_014878.4;PUM3,upstream_gene_variant,,ENST00000382032,;PUM3,upstream_gene_variant,,ENST00000490444,;	G	ENST00000397885	Transcript	missense_variant	1820/2321	1613/1947	538/648	H/P	cAt/cCt	rs776874507,COSM3906774	1		-1	PUM3	HGNC	HGNC:29676	protein_coding	YES	CCDS6448.2	ENSP00000380982	Q15397		UPI000013D67E	NM_014878.4	tolerated(0.23)		15/18		hmmpanther:PTHR13389,Pfam_domain:PF08144,Superfamily_domains:SSF48371											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs776874507	.												G	3	3	47	2811383	2811383	T	G	1	0	0	0	0	1	0	0	0	12984	1464	51	5		5	PUM3	9	2811383	Missense_Mutation	SNP	T	C3N-00433_TP		2811383	135583334	75	14859											
CCDC171	0	.	GRCh38	chr9	15777628	15777628	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagaatttgtggacatttActcataggtgcagccaagaa	13	11	9	8	0	1	2	1	0	0	2	2	3	2	3	2	2	3	1	2	2	5	4	novel		C3N-00433_TP	C3N-00433_NB	A	A																c.2700A>T	p.Leu900Phe	p.L900F	ENST00000380701	19/26	86	79	7	94	93	1	strelka-varscan-mutect	CCDC171,missense_variant,p.Leu900Phe,ENST00000380701,NM_173550.2;CCDC171,missense_variant,p.Leu140Phe,ENST00000449575,;CCDC171,upstream_gene_variant,,ENST00000432954,;RNU6-14P,upstream_gene_variant,,ENST00000384630,;	T	ENST00000380701	Transcript	missense_variant	3028/6512	2700/3981	900/1326	L/F	ttA/ttT		1		1	CCDC171	HGNC	HGNC:29828	protein_coding	YES	CCDS6481.1	ENSP00000370077	Q6TFL3		UPI000021C44B	NM_173550.2	tolerated(0.07)		19/26																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	15777628	15777628	A	T	1	0	0	0	0	1	0	0	0	2488	388	14	4		4	CCDC171	9	15777628	Missense_Mutation	SNP	A	C3N-00433_TP	12966245	15777628	122617089	76	14860											
ZCCHC6	0	.	GRCh38	chr9	86323227	86323227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcttcatcagagggaatCatttctgatgtctggccctg	7	14	9	11	0	6	2	3	1	3	1	7	3	7	3	2	2	0	0	2	2	1	2	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.2523G>A	p.Met841Ile	p.M841I	ENST00000375963	13/27	172	160	12	164	163	1	strelka-varscan-mutect	ZCCHC6,missense_variant,p.Met130Ile,ENST00000277141,;ZCCHC6,missense_variant,p.Met841Ile,ENST00000375963,NM_024617.3,NM_001185059.1;ZCCHC6,missense_variant,p.Met718Ile,ENST00000375960,NM_001185074.1;ZCCHC6,upstream_gene_variant,,ENST00000375957,;ZCCHC6,downstream_gene_variant,,ENST00000469004,;	T	ENST00000375963	Transcript	missense_variant	2696/5379	2523/4488	841/1495	M/I	atG/atA		1		-1	ZCCHC6	HGNC	HGNC:25817	protein_coding	YES	CCDS35057.1	ENSP00000365130	Q5VYS8		UPI00004588F6	NM_024617.3,NM_001185059.1	tolerated(1)		13/27																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	47	86323227	86323227	C	T	1	0	0	0	0	1	0	0	0	18167	826	29	3		3	ZCCHC6	9	86323227	Missense_Mutation	SNP	C	C3N-00433_TP	70545599	86323227	52071490	77	14861											
INVS	0	.	GRCh38	chr9	100284509	100284509	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgagccaagagacagCagaggatctccaggagggtc	11	4	15	11	0	1	3	0	1	1	2	3	6	1	5	3	4	2	1	3	4	1	0	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.1974C>T	p.=	p.S658S	ENST00000262457	13/17	793	745	48	466	466	0	strelka-varscan-mutect	INVS,synonymous_variant,p.=,ENST00000262457,NM_014425.3;INVS,synonymous_variant,p.=,ENST00000262456,NM_183245.2;	T	ENST00000262457	Transcript	synonymous_variant	2159/3709	1974/3198	658/1065	S	agC/agT		1		1	INVS	HGNC	HGNC:17870	protein_coding	YES	CCDS6746.1	ENSP00000262457	Q9Y283	A0A024R153	UPI000013D2BB	NM_014425.3			13/17		hmmpanther:PTHR24178																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	47	100284509	100284509	C	T	1	0	0	0	0	0	0	0	1	7690	709	25	3		3	INVS	9	100284509	Silent	SNP	C	C3N-00433_TP	13961282	100284509	38110208	78	14862											
GRIN3A	0	.	GRCh38	chr9	101737678	101737678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcggcccccggccatgcaggGtgctccccaaccagcgtgcg	5	4	14	18	4	0	0	0	0	0	0	1	0	1	0	6	3	5	2	6	3	1	0	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.302C>A	p.Thr101Asn	p.T101N	ENST00000361820	1/9	272	258	14	179	178	1	strelka-mutect	GRIN3A,missense_variant,p.Thr101Asn,ENST00000361820,NM_133445.2;	T	ENST00000361820	Transcript	missense_variant	903/7770	302/3348	101/1115	T/N	aCc/aAc		1		-1	GRIN3A	HGNC	HGNC:16767	protein_coding	YES	CCDS6758.1	ENSP00000355155	Q8TCU5		UPI0000367661	NM_133445.2	tolerated_low_confidence(0.13)		1/9																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	101737678	101737678	G	T	1	0	0	0	0	1	0	0	0	6665	1261	44	2		2	GRIN3A	9	101737678	Missense_Mutation	SNP	G	C3N-00433_TP	1453169	101737678	36657039	79	14863											
COL5A1	0	.	GRCh38	chr9	134835180	134835180	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgacaacaacccctacatCcgcgccctggtggacggctg	9	7	10	15	3	0	1	0	1	0	0	1	2	1	2	4	3	3	1	4	3	4	2	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.5346C>A	p.=	p.I1782I	ENST00000371817	65/66	413	390	23	213	213	0	strelka-varscan-mutect	COL5A1,synonymous_variant,p.=,ENST00000371817,NM_000093.4;COL5A1,synonymous_variant,p.=,ENST00000618395,NM_001278074.1;COL5A1,synonymous_variant,p.=,ENST00000371820,;COL5A1,downstream_gene_variant,,ENST00000460264,;COL5A1,downstream_gene_variant,,ENST00000465877,;	A	ENST00000371817	Transcript	synonymous_variant	5760/8471	5346/5517	1782/1838	I	atC/atA		1		1	COL5A1	HGNC	HGNC:2209	protein_coding	YES	CCDS6982.1	ENSP00000360882	P20908	A0A024R8E5	UPI0000210EE3	NM_000093.4			65/66		PD002078,Pfam_domain:PF01410,PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF387,SMART_domains:SM00038																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	47	134835180	134835180	C	A	1	0	0	0	0	0	0	0	1	3485	845	30	2		2	COL5A1	9	134835180	Silent	SNP	C	C3N-00433_TP	33097502	134835180	3559537	80	14864											
SEC16A	0	.	GRCh38	chr9	136475231	136475231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcctctcccattttGggaggattctcaaggttctc	5	14	8	14	0	3	0	1	0	3	0	8	2	5	2	4	3	0	1	4	3	1	4	rs764084013		C3N-00433_TP	C3N-00433_NB	G	G																c.2385C>T	p.=	p.P795P	ENST00000313050	1/30	236	223	13	132	132	0	strelka-varscan-mutect	SEC16A,synonymous_variant,p.=,ENST00000290037,NM_001276418.1;SEC16A,synonymous_variant,p.=,ENST00000313050,NM_014866.1;SEC16A,synonymous_variant,p.=,ENST00000371706,;SEC16A,synonymous_variant,p.=,ENST00000431893,;	A	ENST00000313050	Transcript	synonymous_variant	2459/8806	2385/7074	795/2357	P	ccC/ccT	rs764084013	1		-1	SEC16A	HGNC	HGNC:29006	protein_coding	YES	CCDS55351.1	ENSP00000325827		J3KNL6	UPI0000F0888B	NM_014866.1			1/30		hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF13																	LOW	1	SNV	1			1										PASS		rs764084013	.												A	2	1	47	136475231	136475231	G	A	1	0	0	0	0	0	0	0	1	14263	1335	47	3		3	SEC16A	9	136475231	Silent	SNP	G	C3N-00433_TP	1640051	136475231	1919486	81	14865											
LARP4B	0	.	GRCh38	chr10	812962	812962	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggggagtgctctgctctcgGctgagacgcttccccatggc	4	9	15	13	2	2	1	0	1	2	1	4	3	3	2	2	4	2	4	2	4	0	1	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.2181C>T	p.=	p.S727S	ENST00000612396	18/18	94	88	6	44	44	0	strelka-mutect	LARP4B,synonymous_variant,p.=,ENST00000612396,NM_015155.2;LARP4B,synonymous_variant,p.=,ENST00000316157,;LARP4B,synonymous_variant,p.=,ENST00000614908,;LARP4B,synonymous_variant,p.=,ENST00000448368,;LARP4B,downstream_gene_variant,,ENST00000440895,;LARP4B,downstream_gene_variant,,ENST00000469487,;LARP4B,non_coding_transcript_exon_variant,,ENST00000609318,;LARP4B,downstream_gene_variant,,ENST00000608970,;	A	ENST00000612396	Transcript	synonymous_variant	2498/8546	2181/2217	727/738	S	agC/agT		1		-1	LARP4B	HGNC	HGNC:28987	protein_coding	YES	CCDS31131.1	ENSP00000482767	Q92615		UPI00001F8C87	NM_015155.2			18/18																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	47	812962	812962	G	A	1	0	0	0	0	0	0	0	1	8542	1194	42	3		3	LARP4B	10	812962	Silent	SNP	G	C3N-00433_TP		812962	132984460	82	14866											
KCNQ1	0	.	GRCh38	chr11	2585253	2585253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctgaaggtgcagcagaaGcagaggcagaagcacttcaa	14	4	13	10	0	1	4	1	1	0	3	1	4	1	4	1	2	4	5	1	2	4	1	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.1074G>T	p.Lys358Asn	p.K358N	ENST00000155840	8/16	614	577	37	316	316	0	strelka-varscan-mutect	KCNQ1,missense_variant,p.Lys358Asn,ENST00000155840,NM_000218.2;KCNQ1,missense_variant,p.Lys231Asn,ENST00000335475,NM_181798.1;	T	ENST00000155840	Transcript	missense_variant	1182/3245	1074/2031	358/676	K/N	aaG/aaT		1		1	KCNQ1	HGNC	HGNC:6294	protein_coding	YES	CCDS7736.1	ENSP00000155840	P51787		UPI000004662D	NM_000218.2	deleterious(0)		8/16		Gene3D:1.10.287.70,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF151																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	2585253	2585253	G	T	1	0	0	0	0	1	0	0	0	7998	962	34	2		2	KCNQ1	11	2585253	Missense_Mutation	SNP	G	C3N-00433_TP		2585253	132501369	83	14867											
MRGPRE	0	.	GRCh38	chr11	3228151	3228151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggtgaggaggatgagccCagggaagccccggggtgggg	8	3	22	8	2	0	2	0	2	0	0	0	6	0	5	3	8	2	0	3	8	1	0	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.649G>A	p.Gly217Arg	p.G217R	ENST00000389832	2/2	202	185	17	96	96	0	strelka-varscan-mutect	MRGPRE,missense_variant,p.Gly217Arg,ENST00000389832,NM_001039165.2;AC109309.4,intron_variant,,ENST00000418995,;	T	ENST00000389832	Transcript	missense_variant	956/1409	649/939	217/312	G/R	Ggg/Agg		1		-1	MRGPRE	HGNC	HGNC:30694	protein_coding	YES	CCDS41603.2	ENSP00000374482	Q86SM8	W4VSQ4	UPI000015F138	NM_001039165.2	tolerated(0.44)		2/2		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF26,hmmpanther:PTHR11334,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR02111,Prints_domain:PR02108																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	47	3228151	3228151	C	T	1	0	0	0	0	1	0	0	0	9730	594	21	3		3	MRGPRE	11	3228151	Missense_Mutation	SNP	C	C3N-00433_TP	642898	3228151	131858471	84	14868											
OR51A4	0	.	GRCh38	chr11	4946767	4946767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaggactgaggactccaGtactgagaatccatgaatga	14	7	12	8	0	0	4	0	4	0	1	2	8	2	7	2	3	1	1	2	3	3	1	rs757621278		C3N-00433_TP	C3N-00433_NB	G	G																c.334C>A	p.Leu112Met	p.L112M	ENST00000380373	1/1	160	150	10	173	173	0	varscan-mutect	OR51A4,missense_variant,p.Leu112Met,ENST00000380373,NM_001005329.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	T	ENST00000380373	Transcript	missense_variant	334/942	334/942	112/313	L/M	Ctg/Atg	rs757621278	1		-1	OR51A4	HGNC	HGNC:14795	protein_coding	YES	CCDS31367.1	ENSP00000369731	Q8NGJ6		UPI0000047195	NM_001005329.1	tolerated(1)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF168,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE		SNV				1										PASS		rs757621278	.												T	3	4	47	4946767	4946767	G	T	1	0	0	0	0	1	0	0	0	11162	1020	36	2		2	OR51A4	11	4946767	Missense_Mutation	SNP	G	C3N-00433_TP	1718616	4946767	130139855	85	14869											
IPO7	0	.	GRCh38	chr11	9424955	9424955	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctaccactgctgcccagAcacttttgtttacagcctgt	7	13	6	15	0	0	1	0	0	0	1	1	1	1	1	4	0	5	2	4	0	2	5	novel		C3N-00433_TP	C3N-00433_NB	A	A																c.1183A>G	p.Thr395Ala	p.T395A	ENST00000379719	11/25	90	84	6	120	120	0	varscan-mutect	IPO7,missense_variant,p.Thr395Ala,ENST00000379719,NM_006391.2;SNORA23,upstream_gene_variant,,ENST00000365128,;IPO7,non_coding_transcript_exon_variant,,ENST00000530037,;IPO7,downstream_gene_variant,,ENST00000531235,;	G	ENST00000379719	Transcript	missense_variant	1325/6191	1183/3117	395/1038	T/A	Aca/Gca		1		1	IPO7	HGNC	HGNC:9852	protein_coding	YES	CCDS31425.1	ENSP00000369042	O95373		UPI0000072C06	NM_006391.2	tolerated(0.13)		11/25		hmmpanther:PTHR10997:SF27,hmmpanther:PTHR10997,Pfam_domain:PF08506,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	47	9424955	9424955	A	G	1	0	0	0	0	1	0	0	0	7700	275	10	5		5	IPO7	11	9424955	Missense_Mutation	SNP	A	C3N-00433_TP	4478188	9424955	125661667	86	14870											
OTOG	0	.	GRCh38	chr11	17645833	17645833	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccgattctgcaagtgctgCcgtgaggtgggcctgcagcg	5	8	16	12	3	1	1	0	1	1	0	1	2	1	1	3	2	5	3	3	2	1	1	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.8667C>A	p.Cys2889Ter	p.C2889*	ENST00000399391	55/55	759	718	41	440	440	0	strelka-varscan-mutect	OTOG,stop_gained,p.Cys2877Ter,ENST00000399397,NM_001292063.1;OTOG,stop_gained,p.Cys2889Ter,ENST00000399391,NM_001277269.1;	A	ENST00000399391	Transcript	stop_gained	8667/8778	8667/8778	2889/2925	C/*	tgC/tgA		1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1			55/55		PROSITE_profiles:PS01225,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228,SMART_domains:SM00041																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	47	17645833	17645833	C	A	1	0	0	0	0	0	1	0	0	11370	747	26	2		2	OTOG	11	17645833	Nonsense_Mutation	SNP	C	C3N-00433_TP	8220878	17645833	117440789	87	14871											
OR8H2	0	.	GRCh38	chr11	56105801	56105801	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcaccatcttttatagCactctgatttttacttattt	9	19	5	8	0	3	1	1	1	2	0	3	2	3	2	1	1	2	1	1	1	4	8	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.759C>A	p.Ser253Arg	p.S253R	ENST00000313503	1/1	78	73	5	128	128	0	strelka-varscan-mutect	OR8H2,missense_variant,p.Ser252Arg,ENST00000618136,;OR8H2,missense_variant,p.Ser253Arg,ENST00000313503,NM_001005200.1;	A	ENST00000313503	Transcript	missense_variant	759/939	759/939	253/312	S/R	agC/agA		1		1	OR8H2	HGNC	HGNC:15308	protein_coding	YES	CCDS31518.1	ENSP00000323982	Q8N162		UPI0000041D0C	NM_001005200.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	47	56105801	56105801	C	A	1	0	0	0	0	1	0	0	0	11306	709	25	2		2	OR8H2	11	56105801	Missense_Mutation	SNP	C	C3N-00433_TP	38459968	56105801	78980821	88	14872											
DPP3	0	.	GRCh38	chr11	66493552	66493552	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttggcaggacctgtacatCctctggaaggggccctcctt	6	11	11	13	0	2	0	0	0	2	0	4	2	4	2	4	5	1	2	4	5	2	3	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.1308C>T	p.=	p.I436I	ENST00000541961	12/18	221	203	18	109	109	0	strelka-mutect	DPP3,synonymous_variant,p.=,ENST00000532677,;DPP3,synonymous_variant,p.=,ENST00000531863,;DPP3,synonymous_variant,p.=,ENST00000541961,NM_130443.3,NM_005700.4;DPP3,synonymous_variant,p.=,ENST00000530165,NM_001256670.1;DPP3,downstream_gene_variant,,ENST00000533725,;DPP3,non_coding_transcript_exon_variant,,ENST00000533799,;DPP3,downstream_gene_variant,,ENST00000525738,;DPP3,non_coding_transcript_exon_variant,,ENST00000526667,;DPP3,non_coding_transcript_exon_variant,,ENST00000526250,;	T	ENST00000541961	Transcript	synonymous_variant	1364/2676	1308/2214	436/737	I	atC/atT		1		1	DPP3	HGNC	HGNC:3008	protein_coding	YES	CCDS8141.1	ENSP00000440502	Q9NY33		UPI000012983B	NM_130443.3,NM_005700.4			12/18		Pfam_domain:PF03571,PIRSF_domain:PIRSF007828,hmmpanther:PTHR23422,hmmpanther:PTHR23422:SF11																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	47	66493552	66493552	C	T	1	0	0	0	0	0	0	0	1	4543	845	30	3		3	DPP3	11	66493552	Silent	SNP	C	C3N-00433_TP	10387751	66493552	68593070	89	14873											
FAT3	0	.	GRCh38	chr11	92354598	92354598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctaatgacaatagccCagtttttattcaagacagtt	13	13	8	7	0	1	2	1	1	0	1	1	3	1	3	1	1	2	3	1	1	5	7	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.2036C>A	p.Pro679Gln	p.P679Q	ENST00000525166	1/27	156	145	11	190	189	1	strelka-varscan-mutect	FAT3,missense_variant,p.Pro829Gln,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Pro679Gln,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000528921,;	A	ENST00000525166	Transcript	missense_variant	2058/18699	2036/13320	679/4439	P/Q	cCa/cAa		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		deleterious(0)		1/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205,Prints_domain:PR00205																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	47	92354598	92354598	C	A	1	0	0	0	0	1	0	0	0	5551	594	21	2		2	FAT3	11	92354598	Missense_Mutation	SNP	C	C3N-00433_TP	25861046	92354598	42732024	90	14874											
TRIM29	0	.	GRCh38	chr11	120137633	120137633	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgggcttccgggactcCgagaaaatggacttgcgcag	9	7	14	11	4	0	1	0	0	0	1	2	4	2	3	3	3	1	2	3	3	2	2	rs772848985		C3N-00433_TP	C3N-00433_NB	C	C																c.399G>A	p.=	p.S133S	ENST00000341846	1/9	559	531	28	368	368	0	strelka-varscan-mutect	TRIM29,missense_variant,p.Gly83Arg,ENST00000627238,;TRIM29,synonymous_variant,p.=,ENST00000341846,NM_012101.3;TRIM29,downstream_gene_variant,,ENST00000532833,;TRIM29,downstream_gene_variant,,ENST00000529495,;TRIM29,downstream_gene_variant,,ENST00000529040,;TRIM29,downstream_gene_variant,,ENST00000529011,;TRIM29,missense_variant,p.Gly83Arg,ENST00000475051,;	T	ENST00000341846	Transcript	synonymous_variant	821/3328	399/1767	133/588	S	tcG/tcA	rs772848985,COSM357945	1		-1	TRIM29	HGNC	HGNC:17274	protein_coding	YES	CCDS8428.1	ENSP00000343129	Q14134	A0A024R3J1	UPI0000073FDE	NM_012101.3			1/9													0,1						LOW	1	SNV	1		0,1	1										PASS		rs772848985	.												T	2	4	47	120137633	120137633	C	T	1	0	0	0	0	0	0	0	1	16992	661	23	1		1	TRIM29	11	120137633	Silent	SNP	C	C3N-00433_TP	27783035	120137633	14948989	91	14875											
TRIM29	0	.	GRCh38	chr11	120138013	120138013	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgacccgttgctcctggAggcatctgcagcttccatcg	5	10	11	15	3	1	0	0	0	1	0	5	2	3	1	3	2	3	6	3	2	0	2	novel		C3N-00433_TP	C3N-00433_NB	A	A																c.19T>A	p.Ser7Thr	p.S7T	ENST00000341846	1/9	94	88	6	59	59	0	strelka-mutect	TRIM29,missense_variant,p.Ser7Thr,ENST00000341846,NM_012101.3;TRIM29,missense_variant,p.Ser7Thr,ENST00000532833,;TRIM29,missense_variant,p.Ser7Thr,ENST00000529495,;TRIM29,missense_variant,p.Ser7Thr,ENST00000529040,;TRIM29,missense_variant,p.Ser7Thr,ENST00000529011,;TRIM29,missense_variant,p.Ser7Thr,ENST00000627238,;TRIM29,missense_variant,p.Ser7Thr,ENST00000475051,;	T	ENST00000341846	Transcript	missense_variant	441/3328	19/1767	7/588	S/T	Tcc/Acc		1		-1	TRIM29	HGNC	HGNC:17274	protein_coding	YES	CCDS8428.1	ENSP00000343129	Q14134	A0A024R3J1	UPI0000073FDE	NM_012101.3	tolerated_low_confidence(0.56)		1/9																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	120138013	120138013	A	T	1	0	0	0	0	1	0	0	0	16992	304	11	4		4	TRIM29	11	120138013	Missense_Mutation	SNP	A	C3N-00433_TP	380	120138013	14948609	92	14876											
APOBEC1	0	.	GRCh38	chr12	7649592	7649592	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcagccctgtagctaaaagGatgtgtggcggaatcgtttg	10	11	13	7	2	1	0	1	0	0	0	2	2	1	2	1	3	2	3	1	3	4	3	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.666C>A	p.=	p.I222I	ENST00000229304	5/5	167	150	17	163	163	0	strelka-mutect	APOBEC1,synonymous_variant,p.=,ENST00000229304,NM_001304566.1,NM_001644.4;APOBEC1,3_prime_UTR_variant,,ENST00000467171,NM_005889.3;	T	ENST00000229304	Transcript	synonymous_variant	687/879	666/711	222/236	I	atC/atA		1		-1	APOBEC1	HGNC	HGNC:604	protein_coding	YES	CCDS8579.1	ENSP00000229304	P41238		UPI000013C8F4	NM_001304566.1,NM_001644.4			5/5		hmmpanther:PTHR13857:SF26,hmmpanther:PTHR13857																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	47	7649592	7649592	G	T	1	0	0	0	0	0	0	0	1	908	1164	41	2		2	APOBEC1	12	7649592	Silent	SNP	G	C3N-00433_TP		7649592	125625717	93	14877											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3N-00433_TP	C3N-00433_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	284	253	31	246	246	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												A	3	1	47	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	C3N-00433_TP	17595759	25245351	108029958	94	14878											
OVOS2	0	.	GRCh38	chr12	31149333	31149333	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagttccaaaataagaaatCcctcttctgtagaaagtatc	16	11	5	9	0	2	2	0	0	2	2	5	2	4	2	2	0	0	3	2	0	7	5	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.1026G>T	p.=	p.G342G	ENST00000632817	9/34	53	48	5	56	56	0	varscan-mutect	OVOS2,synonymous_variant,p.=,ENST00000398963,;OVOS2,synonymous_variant,p.=,ENST00000632817,;	A	ENST00000632817	Transcript	synonymous_variant	1026/4299	1026/4299	342/1432	G	ggG/ggT		1		-1	OVOS2	Clone_based_vega_gene		protein_coding	YES		ENSP00000487815		A0A0J9YW53	UPI0001AE6AF7				9/34		hmmpanther:PTHR11412:SF77,hmmpanther:PTHR11412																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	47	31149333	31149333	C	A	1	0	0	0	0	0	0	0	1	11399	842	30	2		2	OVOS2	12	31149333	Silent	SNP	C	C3N-00433_TP	5903982	31149333	102125976	95	14879											
LARP4	0	.	GRCh38	chr12	50429044	50429044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaatcaactgatgggatGattttaggaccagaagatct	15	10	11	5	0	2	5	1	2	1	3	2	8	2	7	1	2	1	0	1	2	5	2	rs747392424		C3N-00433_TP	C3N-00433_NB	G	G																c.276G>A	p.Met92Ile	p.M92I	ENST00000398473	3/16	162	152	10	247	247	0	varscan-mutect	LARP4,missense_variant,p.Met92Ile,ENST00000398473,NM_052879.4;LARP4,missense_variant,p.Met92Ile,ENST00000293618,NM_001170803.1,NM_001170808.1;LARP4,missense_variant,p.Met98Ile,ENST00000429001,;LARP4,missense_variant,p.Met92Ile,ENST00000347328,NM_199190.2;LARP4,missense_variant,p.Met91Ile,ENST00000518444,NM_199188.2;LARP4,missense_variant,p.Met22Ile,ENST00000614335,;LARP4,missense_variant,p.Met22Ile,ENST00000518561,;LARP4,missense_variant,p.Met92Ile,ENST00000522085,NM_001170804.1;LARP4,missense_variant,p.Met22Ile,ENST00000615080,;LARP4,missense_variant,p.Met22Ile,ENST00000548993,;LARP4,missense_variant,p.Met22Ile,ENST00000552445,;LARP4,missense_variant,p.Met22Ile,ENST00000523389,;LARP4,missense_variant,p.Met22Ile,ENST00000548697,;LARP4,missense_variant,p.Met92Ile,ENST00000551886,;LARP4,missense_variant,p.Met100Ile,ENST00000548174,;LARP4,missense_variant,p.Met91Ile,ENST00000550260,;LARP4,missense_variant,p.Met22Ile,ENST00000550522,;LARP4,missense_variant,p.Met22Ile,ENST00000517559,;	A	ENST00000398473	Transcript	missense_variant	388/6427	276/2175	92/724	M/I	atG/atA	rs747392424,COSM358699	1		1	LARP4	HGNC	HGNC:24320	protein_coding	YES	CCDS41782.1	ENSP00000381490	Q71RC2		UPI00002293C3	NM_052879.4	tolerated(0.22)		3/16		hmmpanther:PTHR22792:SF48,hmmpanther:PTHR22792											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs747392424	.												A	3	1	47	50429044	50429044	G	A	1	0	0	0	0	1	0	0	0	8541	1290	45	3		3	LARP4	12	50429044	Missense_Mutation	SNP	G	C3N-00433_TP	19279711	50429044	82846265	96	14880											
NEDD1	0	.	GRCh38	chr12	96951441	96951441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attcttcctagagaagcatgCcatagggacattgtgaattt	12	13	9	7	0	1	2	0	1	1	1	2	4	2	3	2	1	2	1	2	1	4	6	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.1842C>G	p.Cys614Trp	p.C614W	ENST00000557644	14/15	77	73	4	133	133	0	strelka-varscan-mutect	NEDD1,missense_variant,p.Cys607Trp,ENST00000266742,NM_152905.3;NEDD1,missense_variant,p.Cys607Trp,ENST00000429527,NM_001135176.1;NEDD1,missense_variant,p.Cys518Trp,ENST00000457368,;NEDD1,missense_variant,p.Cys518Trp,ENST00000411739,NM_001135177.1;NEDD1,missense_variant,p.Cys614Trp,ENST00000557644,NM_001135175.1;	G	ENST00000557644	Transcript	missense_variant	1988/2367	1842/2004	614/667	C/W	tgC/tgG		1		1	NEDD1	HGNC	HGNC:7723	protein_coding	YES	CCDS44955.1	ENSP00000451211	Q8NHV4		UPI000004D249	NM_001135175.1	tolerated(0.09)		14/15																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	47	96951441	96951441	C	G	1	0	0	0	0	1	0	0	0	10337	747	26	4		4	NEDD1	12	96951441	Missense_Mutation	SNP	C	C3N-00433_TP	46522397	96951441	36323868	97	14881											
DNAH10	0	.	GRCh38	chr12	123933365	123933365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccagcgtgatgtggctctCggggctgcacatccctgagt	5	9	14	13	2	1	2	0	2	1	0	3	2	2	2	2	3	2	3	2	3	0	0	rs758968876		C3N-00433_TP	C3N-00433_NB	C	C																c.12977C>T	p.Ser4326Leu	p.S4326L	ENST00000638045	76/78	143	133	10	81	81	0	strelka-varscan-mutect	DNAH10,missense_variant,p.Ser4387Leu,ENST00000409039,;DNAH10,missense_variant,p.Ser4326Leu,ENST00000638045,NM_207437.3;DNAH10OS,intron_variant,,ENST00000514254,;CCDC92,downstream_gene_variant,,ENST00000545135,;CCDC92,downstream_gene_variant,,ENST00000238156,NM_025140.2,NM_001304960.1,NM_001304959.1,NM_001304957.1,NM_001304958.1;CCDC92,downstream_gene_variant,,ENST00000545891,NM_001304961.1;CCDC92,downstream_gene_variant,,ENST00000539551,;CCDC92,downstream_gene_variant,,ENST00000539761,;CCDC92,downstream_gene_variant,,ENST00000535556,;CCDC92,intron_variant,,ENST00000544798,;CCDC92,intron_variant,,ENST00000542348,;DNAH10,3_prime_UTR_variant,,ENST00000538983,;DNAH10,non_coding_transcript_exon_variant,,ENST00000492261,;DNAH10,downstream_gene_variant,,ENST00000545078,;	T	ENST00000638045	Transcript	missense_variant	13002/13678	12977/13416	4326/4471	S/L	tCg/tTg	rs758968876,COSM4463541,COSM4463542	1		1	DNAH10	HGNC	HGNC:2941	protein_coding	YES	CCDS9255.2	ENSP00000489675			UPI00014F7B89	NM_207437.3	deleterious(0)		76/78		hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF03028											0,1,1						MODERATE		SNV			0,1,1	1										PASS		rs758968876	.												T	3	4	47	123933365	123933365	C	T	1	0	0	0	0	1	0	0	0	4411	893	31	1		1	DNAH10	12	123933365	Missense_Mutation	SNP	C	C3N-00433_TP	26981924	123933365	9341944	98	14882											
NOC4L	0	.	GRCh38	chr12	132152198	132152198	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagctcacggcctacgagGtgcggaactgggccagggtg	7	6	18	10	3	1	0	1	0	0	0	1	3	1	2	2	6	4	1	2	6	2	1	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.1431+1G>T		p.X477_splice	ENST00000330579		222	210	12	108	108	0	strelka-varscan-mutect	NOC4L,splice_donor_variant,,ENST00000330579,NM_024078.2;NOC4L,downstream_gene_variant,,ENST00000541954,;NOC4L,downstream_gene_variant,,ENST00000535343,;NOC4L,splice_donor_variant,,ENST00000538784,;	T	ENST00000330579	Transcript	splice_donor_variant	-/1632	1431/1551	477/516				1		1	NOC4L	HGNC	HGNC:28461	protein_coding	YES	CCDS9277.1	ENSP00000328854	Q9BVI4		UPI00000723C4	NM_024078.2				14/14																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	47	132152198	132152198	G	T	1	0	0	0	0	0	0	1	0	10557	1275	44	2		2	NOC4L	12	132152198	Splice_Site	SNP	G	C3N-00433_TP	8218833	132152198	1123111	99	14883											
KCTD12	0	.	GRCh38	chr13	76886067	76886067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcggggaagagcggtggctCcgcggaggacgacgaggagc	8	3	21	9	6	0	1	0	0	0	1	2	7	1	5	1	7	2	1	1	7	1	0	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.82G>A	p.Glu28Lys	p.E28K	ENST00000377474	1/1	270	253	17	127	127	0	strelka-varscan-mutect	KCTD12,missense_variant,p.Glu28Lys,ENST00000377474,NM_138444.3;AC000403.4,upstream_gene_variant,,ENST00000613696,;	T	ENST00000377474	Transcript	missense_variant	324/6225	82/978	28/325	E/K	Gag/Aag		1		-1	KCTD12	HGNC	HGNC:14678	protein_coding	YES	CCDS9455.1	ENSP00000366694	Q96CX2	A0A140VJM4	UPI0000073DDF	NM_138444.3	tolerated(0.32)		1/1		hmmpanther:PTHR14499:SF29,hmmpanther:PTHR14499																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	47	76886067	76886067	C	T	1	0	0	0	0	1	0	0	0	8016	864	30	3		3	KCTD12	13	76886067	Missense_Mutation	SNP	C	C3N-00433_TP		76886067	37478261	100	14884											
NALCN	0	.	GRCh38	chr13	101258476	101258476	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactcgtcgtactgcctcctGaagttttctcctttgtagta	7	16	7	11	2	1	1	0	1	1	0	5	1	2	1	3	0	3	4	3	0	5	6	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.1233C>T	p.=	p.F411F	ENST00000251127	11/44	284	261	23	131	131	0	strelka-varscan-mutect	NALCN,synonymous_variant,p.=,ENST00000251127,NM_052867.2;NALCN,non_coding_transcript_exon_variant,,ENST00000470333,;NALCN,non_coding_transcript_exon_variant,,ENST00000497170,;	A	ENST00000251127	Transcript	synonymous_variant	1315/6818	1233/5217	411/1738	F	ttC/ttT		1		-1	NALCN	HGNC	HGNC:19082	protein_coding	YES	CCDS9498.1	ENSP00000251127	Q8IZF0	A0A024RE05	UPI000004EBBD	NM_052867.2			11/44		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF214,Superfamily_domains:SSF81324																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	47	101258476	101258476	G	A	1	0	0	0	0	0	0	0	1	10155	1281	45	3		3	NALCN	13	101258476	Silent	SNP	G	C3N-00433_TP	24372409	101258476	13105852	101	14885											
CCDC168	0	.	GRCh38	chr13	102734356	102734356	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaagcctttcttcatcTgcatgcgtagctctctccag	6	13	6	16	1	4	0	1	0	3	0	7	0	6	0	4	0	4	3	4	0	2	3	novel		C3N-00433_TP	C3N-00433_NB	T	T																c.16341A>G	p.=	p.A5447A	ENST00000322527	4/4	189	178	11	225	225	0	strelka-varscan-mutect	CCDC168,synonymous_variant,p.=,ENST00000322527,NM_001146197.1;	C	ENST00000322527	Transcript	synonymous_variant	16479/21466	16341/21246	5447/7081	A	gcA/gcG		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1			4/4		Pfam_domain:PF15804,hmmpanther:PTHR35542,hmmpanther:PTHR35542:SF1																	LOW	1	SNV	3			1										PASS		.	.												C	2	2	47	102734356	102734356	T	C	1	0	0	0	0	0	0	0	1	2484	1567	55	5		5	CCDC168	13	102734356	Silent	SNP	T	C3N-00433_TP	1475880	102734356	11629972	102	14886											
UPF3A	0	.	GRCh38	chr13	114301914	114301914	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacctggccaagacagaggGaagaaggggagccaggacag	14	1	18	8	0	0	3	0	0	0	3	0	7	0	7	3	6	1	0	3	6	3	0	rs749538453		C3N-00433_TP	C3N-00433_NB	G	G																c.1191G>T	p.=	p.G397G	ENST00000375299	9/10	197	181	16	113	113	0	varscan-mutect	UPF3A,synonymous_variant,p.=,ENST00000375299,NM_023011.3;UPF3A,synonymous_variant,p.=,ENST00000351487,NM_080687.2;UPF3A,non_coding_transcript_exon_variant,,ENST00000475218,;UPF3A,intron_variant,,ENST00000480362,;UPF3A,downstream_gene_variant,,ENST00000493727,;UPF3A,downstream_gene_variant,,ENST00000474056,;CLCP2,upstream_gene_variant,,ENST00000392050,;	T	ENST00000375299	Transcript	synonymous_variant	1247/2387	1191/1431	397/476	G	ggG/ggT	rs749538453	1		1	UPF3A	HGNC	HGNC:20332	protein_coding	YES	CCDS9543.1	ENSP00000364448	Q9H1J1		UPI0000072FCB	NM_023011.3			9/10		hmmpanther:PTHR13112,hmmpanther:PTHR13112:SF2																	LOW	1	SNV	1			1										PASS		rs749538453	.												T	2	4	47	114301914	114301914	G	T	1	0	0	0	0	0	0	0	1	17531	1161	41	2		2	UPF3A	13	114301914	Silent	SNP	G	C3N-00433_TP	11567558	114301914	62414	103	14887											
RALGAPA1	0	.	GRCh38	chr14	35688607	35688607	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttttataaacgccacccagGgagccctgctgtagtcctgc	8	10	10	13	1	0	0	0	0	0	0	1	1	1	1	4	1	4	3	4	1	4	4	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.3663C>T	p.=	p.S1221S	ENST00000637992	17/41	100	93	7	77	77	0	strelka-varscan-mutect	RALGAPA1,synonymous_variant,p.=,ENST00000637992,;RALGAPA1,intron_variant,,ENST00000307138,NM_194301.2;RALGAPA1,intron_variant,,ENST00000389698,NM_014990.1;RALGAPA1,intron_variant,,ENST00000382366,NM_001283043.1;RALGAPA1,intron_variant,,ENST00000553892,NM_001283044.1;RALGAPA1,intron_variant,,ENST00000554652,;RALGAPA1,intron_variant,,ENST00000556839,;RALGAPA1,downstream_gene_variant,,ENST00000553917,;RALGAPA1,upstream_gene_variant,,ENST00000557638,;	A	ENST00000637992	Transcript	synonymous_variant	4042/8512	3663/7488	1221/2495	S	tcC/tcT		1		-1	RALGAPA1	HGNC	HGNC:17770	protein_coding			ENSP00000490119							17/41																			LOW		SNV				1										PASS		.	.												A	2	1	47	35688607	35688607	G	A	1	0	0	0	0	0	0	0	1	13172	1219	43	3		3	RALGAPA1	14	35688607	Silent	SNP	G	C3N-00433_TP		35688607	71355111	104	14888											
NRDE2	0	.	GRCh38	chr14	90331865	90331865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctggagctcccgccatcggGagcctcactaagccccgcaa	8	5	10	18	3	1	0	1	0	0	0	3	2	2	2	6	2	3	2	6	2	2	1	rs749441372		C3N-00433_TP	C3N-00433_NB	G	G																c.40C>G	p.Pro14Ala	p.P14A	ENST00000354366	1/14	355	331	24	158	156	2	strelka-varscan-mutect	NRDE2,missense_variant,p.Pro14Ala,ENST00000354366,NM_017970.3;NRDE2,missense_variant,p.Pro14Ala,ENST00000628832,;NRDE2,non_coding_transcript_exon_variant,,ENST00000557106,;NRDE2,missense_variant,p.Pro14Ala,ENST00000553409,;	C	ENST00000354366	Transcript	missense_variant	273/14208	40/3495	14/1164	P/A	Ccc/Gcc	rs749441372	1		-1	NRDE2	HGNC	HGNC:20186	protein_coding	YES	CCDS9890.1	ENSP00000346335	Q9H7Z3		UPI00001FD9DB	NM_017970.3	tolerated(0.27)		1/14		hmmpanther:PTHR13471																	MODERATE	1	SNV	1			1										PASS		rs749441372	.												C	3	2	47	90331865	90331865	G	C	1	0	0	0	0	1	0	0	0	10702	1174	41	4		4	NRDE2	14	90331865	Missense_Mutation	SNP	G	C3N-00433_TP	54643258	90331865	16711853	105	14889											
CYP46A1	0	.	GRCh38	chr14	99700056	99700056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccgaatgcaactatgagcGctggcacaagcagcggagag	12	5	14	10	3	0	2	0	1	0	1	1	4	1	2	1	2	5	4	1	2	4	1	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.398G>T	p.Arg133Leu	p.R133L	ENST00000261835	5/15	167	154	13	66	66	0	strelka-varscan-mutect	CYP46A1,missense_variant,p.Arg133Leu,ENST00000261835,NM_006668.1;CYP46A1,missense_variant,p.Arg36Leu,ENST00000380228,;CYP46A1,3_prime_UTR_variant,,ENST00000554611,;	T	ENST00000261835	Transcript	missense_variant	502/2181	398/1503	133/500	R/L	cGc/cTc		1		1	CYP46A1	HGNC	HGNC:2641	protein_coding	YES	CCDS9954.1	ENSP00000261835	Q9Y6A2		UPI00001281DC	NM_006668.1	tolerated(0.42)		5/15		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24293,hmmpanther:PTHR24293:SF2,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	99700056	99700056	G	T	1	0	0	0	0	1	0	0	0	3985	1087	38	1		1	CYP46A1	14	99700056	Missense_Mutation	SNP	G	C3N-00433_TP	9368191	99700056	7343662	106	14890											
TECPR2	0	.	GRCh38	chr14	102376922	102376922	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccggcacctcaaccagatGaggaagtacaactttgaggt	12	8	11	10	1	1	3	1	2	0	1	1	4	1	4	3	3	4	2	3	3	4	2	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.201G>C	p.Met67Ile	p.M67I	ENST00000359520	2/20	350	332	18	220	220	0	strelka-varscan-mutect	TECPR2,missense_variant,p.Met67Ile,ENST00000359520,NM_014844.3;TECPR2,missense_variant,p.Met67Ile,ENST00000558678,NM_001172631.1;TECPR2,non_coding_transcript_exon_variant,,ENST00000561228,;	C	ENST00000359520	Transcript	missense_variant	427/8686	201/4236	67/1411	M/I	atG/atC		1		1	TECPR2	HGNC	HGNC:19957	protein_coding	YES	CCDS32162.1	ENSP00000352510	O15040		UPI00001FDC38	NM_014844.3	tolerated(0.08)		2/20		Gene3D:2.130.10.10,hmmpanther:PTHR23287,hmmpanther:PTHR23287:SF16,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	47	102376922	102376922	G	C	1	0	0	0	0	1	0	0	0	16155	1290	45	4		4	TECPR2	14	102376922	Missense_Mutation	SNP	G	C3N-00433_TP	2676866	102376922	4666796	107	14891											
ADCY9	0	.	GRCh38	chr16	3966189	3966189	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtcatagcccatcttgctCaagacgcggtagctctcttc	9	11	8	13	2	4	1	2	0	2	1	6	1	4	1	1	1	3	3	1	1	4	4			C3N-00433_TP	C3N-00433_NB	C	C																c.3648G>C	p.Leu1216Phe	p.L1216F	ENST00000294016	11/11	536	505	31	340	340	0	strelka-varscan-mutect	ADCY9,missense_variant,p.Leu1216Phe,ENST00000294016,NM_001116.3;ADCY9,intron_variant,,ENST00000576936,;	G	ENST00000294016	Transcript	missense_variant	4187/7725	3648/4062	1216/1353	L/F	ttG/ttC	COSM417007,COSM5065602	1		-1	ADCY9	HGNC	HGNC:240	protein_coding	YES	CCDS32382.1	ENSP00000294016	O60503		UPI000012887F	NM_001116.3	deleterious(0)		11/11		Gene3D:3.30.70.1230,Pfam_domain:PF00211,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF319,SMART_domains:SM00044,Superfamily_domains:SSF55073											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1358144438	.												G	3	3	47	3966189	3966189	C	G	1	0	0	0	0	1	0	0	0	345	825	29	4		4	ADCY9	16	3966189	Missense_Mutation	SNP	C	C3N-00433_TP		3966189	86372156	108	14892											
IGSF6	0	.	GRCh38	chr16	21647307	21647307	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgaacttgtctgcctcacTtttgcacccgtccaagcaca	8	12	7	14	1	2	1	1	1	1	0	3	1	3	1	3	0	4	2	3	0	2	3	novel		C3N-00433_TP	C3N-00433_NB	T	T																c.253A>T	p.Ser85Cys	p.S85C	ENST00000268389	2/6	340	310	30	185	185	0	strelka-varscan-mutect	IGSF6,stop_gained,p.Lys85Ter,ENST00000569602,;IGSF6,missense_variant,p.Ser85Cys,ENST00000268389,NM_005849.3;METTL9,intron_variant,,ENST00000358154,NM_016025.4;METTL9,intron_variant,,ENST00000615720,;METTL9,intron_variant,,ENST00000396014,NM_001077180.2;METTL9,intron_variant,,ENST00000567404,NM_001288659.1,NM_001288660.1;METTL9,intron_variant,,ENST00000568826,;RNU6-196P,downstream_gene_variant,,ENST00000384315,;IGSF6,non_coding_transcript_exon_variant,,ENST00000565499,;METTL9,upstream_gene_variant,,ENST00000564733,;	A	ENST00000268389	Transcript	missense_variant	315/2785	253/726	85/241	S/C	Agt/Tgt		1		-1	IGSF6	HGNC	HGNC:5953	protein_coding	YES	CCDS10599.1	ENSP00000268389	O95976		UPI000013D7B4	NM_005849.3	deleterious(0.01)		2/6		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR15297,hmmpanther:PTHR15297:SF2,SMART_domains:SM00406,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	47	21647307	21647307	T	A	1	0	0	0	0	1	0	0	0	7511	1609	56	4		4	IGSF6	16	21647307	Missense_Mutation	SNP	T	C3N-00433_TP	17681118	21647307	68691038	109	14893											
USP31	0	.	GRCh38	chr16	23068944	23068944	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaagaaggggatgtacttGaaagggatgactcctggctt	12	9	15	5	0	0	4	0	2	0	2	1	7	1	6	1	4	1	2	1	4	4	3	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.3161C>G	p.Ser1054Ter	p.S1054*	ENST00000219689	16/16	186	175	11	122	122	0	strelka-varscan-mutect	USP31,stop_gained,p.Ser1054Ter,ENST00000219689,NM_020718.3;USP31,stop_gained,p.Ser347Ter,ENST00000567975,;RP11-20G6.3,upstream_gene_variant,,ENST00000563129,;	C	ENST00000219689	Transcript	stop_gained	3161/10699	3161/4059	1054/1352	S/*	tCa/tGa		1		-1	USP31	HGNC	HGNC:20060	protein_coding	YES	CCDS10607.1	ENSP00000219689	Q70CQ4		UPI0000366B06	NM_020718.3			16/16		Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	47	23068944	23068944	G	C	1	0	0	0	0	0	1	0	0	17604	1294	45	4		4	USP31	16	23068944	Nonsense_Mutation	SNP	G	C3N-00433_TP	1421637	23068944	67269401	110	14894											
ITGAM	0	.	GRCh38	chr16	31324729	31324729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacgccattgtctgctttcGggaacctccggccagtgctg	6	10	12	13	3	1	0	0	0	1	0	3	2	2	1	4	2	4	2	4	2	2	2	rs769503232		C3N-00433_TP	C3N-00433_NB	G	G																c.2239G>T	p.Gly747Trp	p.G747W	ENST00000544665	18/30	49	45	4	41	41	0	strelka-mutect	ITGAM,missense_variant,p.Gly747Trp,ENST00000544665,NM_001145808.1;ITGAM,missense_variant,p.Gly746Trp,ENST00000287497,NM_000632.3;ITGAM,downstream_gene_variant,,ENST00000567031,;ITGAM,non_coding_transcript_exon_variant,,ENST00000561838,;ITGAM,upstream_gene_variant,,ENST00000569746,;ITGAM,upstream_gene_variant,,ENST00000567178,;	T	ENST00000544665	Transcript	missense_variant	2310/4718	2239/3462	747/1153	G/W	Ggg/Tgg	rs769503232,COSM5555979	1		1	ITGAM	HGNC	HGNC:6149	protein_coding	YES	CCDS54004.1	ENSP00000441691	P11215		UPI000004B26A	NM_001145808.1	deleterious(0.01)		18/30		Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Superfamily_domains:SSF69179											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs769503232	.												T	3	4	47	31324729	31324729	G	T	1	0	0	0	0	1	0	0	0	7794	1116	39	1		1	ITGAM	16	31324729	Missense_Mutation	SNP	G	C3N-00433_TP	8255785	31324729	59013616	111	14895											
DNAH9	0	.	GRCh38	chr17	11705049	11705049	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgcccaggctttcctcTggctgtctcagctgcgccat	6	11	9	15	1	2	0	1	0	2	0	4	0	3	0	3	2	3	3	3	2	1	1	novel		C3N-00433_TP	C3N-00433_NB	T	T																c.5416T>A	p.Trp1806Arg	p.W1806R	ENST00000262442	26/69	147	133	14	96	96	0	strelka-varscan-mutect	DNAH9,missense_variant,p.Trp1806Arg,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Trp1806Arg,ENST00000454412,;DNAH9,non_coding_transcript_exon_variant,,ENST00000583192,;	A	ENST00000262442	Transcript	missense_variant	5484/13750	5416/13461	1806/4486	W/R	Tgg/Agg		1		1	DNAH9	HGNC	HGNC:2953	protein_coding	YES	CCDS11160.1	ENSP00000262442	Q9NYC9		UPI0000141BA2	NM_001372.3	deleterious(0)		26/69		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	47	11705049	11705049	T	A	1	0	0	0	0	1	0	0	0	4423	1580	55	4		4	DNAH9	17	11705049	Missense_Mutation	SNP	T	C3N-00433_TP		11705049	71552392	112	14896											
CRHR1	0	.	GRCh38	chr17	45830137	45830137	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccactggaacctcatcTccgccttcatcctgcgcaac	8	10	5	18	2	4	0	3	0	1	0	7	1	6	1	5	1	3	1	5	1	2	1	novel		C3N-00433_TP	C3N-00433_NB	T	T																c.565T>G	p.Ser189Ala	p.S189A	ENST00000398285	7/14	404	383	21	215	215	0	strelka-varscan-mutect	CRHR1,missense_variant,p.Ser189Ala,ENST00000293493,;CRHR1,missense_variant,p.Ser160Ala,ENST00000314537,NM_004382.4;CRHR1,missense_variant,p.Ser59Ala,ENST00000339069,NM_001303016.1,NM_001303020.1;CRHR1,missense_variant,p.Ser189Ala,ENST00000398285,NM_001145146.1;CRHR1,missense_variant,p.Leu91Arg,ENST00000619154,;CRHR1,missense_variant,p.Ser160Ala,ENST00000577353,NM_001145148.1;CRHR1,missense_variant,p.Ser120Ala,ENST00000352855,NM_001145147.1;CRHR1,5_prime_UTR_variant,,ENST00000634540,NM_001256299.2,NM_001303018.1;CRHR1,upstream_gene_variant,,ENST00000580876,;MAPT-AS1,intron_variant,,ENST00000634876,;CRHR1,missense_variant,p.Ser88Ala,ENST00000583888,;CRHR1,non_coding_transcript_exon_variant,,ENST00000582766,;CRHR1,intron_variant,,ENST00000347197,;CRHR1,upstream_gene_variant,,ENST00000535778,;CRHR1,upstream_gene_variant,,ENST00000581479,;CRHR1,downstream_gene_variant,,ENST00000580955,;	G	ENST00000398285	Transcript	missense_variant	565/2399	565/1335	189/444	S/A	Tcc/Gcc		1		1	CRHR1	HGNC	HGNC:2357	protein_coding	YES	CCDS45712.1	ENSP00000381333	P34998		UPI0000128429	NM_001145146.1	tolerated(0.61)		7/14		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF175,hmmpanther:PTHR12011,Pfam_domain:PF00002,Prints_domain:PR00249																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	47	45830137	45830137	T	G	1	0	0	0	0	1	0	0	0	3672	1551	54	5		5	CRHR1	17	45830137	Missense_Mutation	SNP	T	C3N-00433_TP	34125088	45830137	37427304	113	14897											
DLX4	0	.	GRCh38	chr17	49973042	49973042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccctcgctccctcctcGccccctacaccgtgttgtgc	3	10	6	22	3	0	0	0	0	0	0	4	0	2	0	7	0	3	2	7	0	2	3	rs749783136		C3N-00433_TP	C3N-00433_NB	G	G																c.37G>T	p.Ala13Ser	p.A13S	ENST00000611342	1/1	192	180	12	127	127	0	strelka-varscan-mutect	DLX4,missense_variant,p.Ala13Ser,ENST00000611342,;DLX4,missense_variant,p.Ala13Ser,ENST00000411890,NM_001934.3;DLX4,intron_variant,,ENST00000240306,NM_138281.2;DLX4,intron_variant,,ENST00000503276,;DLX4,intron_variant,,ENST00000503410,;DLX4,downstream_gene_variant,,ENST00000505318,;	T	ENST00000611342	Transcript	missense_variant	104/1662	37/345	13/114	A/S	Gcc/Tcc	rs749783136,COSM3783067	1		1	DLX4	HGNC	HGNC:2917	protein_coding			ENSP00000480366	Q92988		UPI000035079C		tolerated_low_confidence(0.1)		1/1													0,1						MODERATE		SNV			0,1	1										PASS		rs749783136	.												T	3	4	47	49973042	49973042	G	T	1	0	0	0	0	1	0	0	0	4380	1087	38	1		1	DLX4	17	49973042	Missense_Mutation	SNP	G	C3N-00433_TP	4142905	49973042	33284399	114	14898											
MTMR4	0	.	GRCh38	chr17	58504302	58504302	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcacaggccttaggacttaCcaggaatgcttcattaaatt	12	12	8	9	0	2	0	2	0	0	0	2	2	2	2	2	3	2	1	2	3	5	5	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.1485+1G>T		p.X495_splice	ENST00000323456		107	101	6	80	80	0	strelka-varscan-mutect	MTMR4,splice_donor_variant,,ENST00000323456,NM_004687.4;MTMR4,splice_donor_variant,,ENST00000579925,;MTMR4,downstream_gene_variant,,ENST00000583656,;MTMR4,downstream_gene_variant,,ENST00000580983,;MTMR4,downstream_gene_variant,,ENST00000582663,;MTMR4,downstream_gene_variant,,ENST00000583966,;	A	ENST00000323456	Transcript	splice_donor_variant	-/5839	1485/3588	495/1195				1		-1	MTMR4	HGNC	HGNC:7452	protein_coding	YES	CCDS11608.1	ENSP00000325285	Q9NYA4		UPI00002010DE	NM_004687.4				13/18																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	47	58504302	58504302	C	A	1	0	0	0	0	0	0	1	0	9933	521	18	2		2	MTMR4	17	58504302	Splice_Site	SNP	C	C3N-00433_TP	8531260	58504302	24753139	115	14899											
EFCAB3	0	.	GRCh38	chr17	62407044	62407044	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggatgcaattccggttcAgatagcccatattcaaaaat	14	12	7	8	1	2	1	2	0	0	1	3	2	3	2	2	2	2	2	2	2	6	6	novel		C3N-00433_TP	C3N-00433_NB	A	A																c.855A>T	p.=	p.S285S	ENST00000450662	10/12	49	44	5	69	69	0	strelka-varscan-mutect	EFCAB3,synonymous_variant,p.=,ENST00000450662,NM_001144933.1;EFCAB3,synonymous_variant,p.=,ENST00000305286,NM_173503.3;EFCAB3,downstream_gene_variant,,ENST00000520404,;EFCAB3,non_coding_transcript_exon_variant,,ENST00000636041,;	T	ENST00000450662	Transcript	synonymous_variant	926/1694	855/1473	285/490	S	tcA/tcT		1		1	EFCAB3	HGNC	HGNC:26379	protein_coding	YES	CCDS45751.1	ENSP00000403932	Q8N7B9		UPI0001929531	NM_001144933.1			10/12		hmmpanther:PTHR23050:SF158,hmmpanther:PTHR23050																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	47	62407044	62407044	A	T	1	0	0	0	0	0	0	0	1	4771	175	7	4		4	EFCAB3	17	62407044	Silent	SNP	A	C3N-00433_TP	3902742	62407044	20850397	116	14900											
ABCA8	0	.	GRCh38	chr17	68924716	68924716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attacctgatggcttctttcCcttggaattctggaggcgct	6	15	10	10	1	2	1	0	1	2	0	3	3	3	3	2	4	1	2	2	4	2	5	rs147273004		C3N-00433_TP	C3N-00433_NB	C	C																c.1427G>T	p.Gly476Val	p.G476V	ENST00000586539	11/40	89	82	7	83	82	1	strelka-varscan-mutect	ABCA8,missense_variant,p.Gly476Val,ENST00000430352,NM_001288986.1;ABCA8,missense_variant,p.Gly476Val,ENST00000269080,NM_007168.3;ABCA8,missense_variant,p.Gly476Val,ENST00000586539,NM_001288985.1;ABCA8,missense_variant,p.Gly107Val,ENST00000615593,;ABCA8,missense_variant,p.Gly124Val,ENST00000589533,;ABCA8,non_coding_transcript_exon_variant,,ENST00000541225,;ABCA8,upstream_gene_variant,,ENST00000587206,;	A	ENST00000586539	Transcript	missense_variant	1616/5088	1427/4866	476/1621	G/V	gGg/gTg	rs147273004	1		-1	ABCA8	HGNC	HGNC:38	protein_coding	YES	CCDS74139.1	ENSP00000467271	O94911		UPI0002065B1E	NM_001288985.1	deleterious(0)		11/40		Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF148																	MODERATE	1	SNV	1			1										PASS		rs147273004	.												A	3	1	47	68924716	68924716	C	A	1	0	0	0	0	1	0	0	0	42	623	22	2		2	ABCA8	17	68924716	Missense_Mutation	SNP	C	C3N-00433_TP	6517672	68924716	14332725	117	14901											
MGAT5B	0	.	GRCh38	chr17	76906087	76906087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctcgggtcctgaagggcGggcccctaggggagatggtg	5	6	19	11	2	0	2	0	1	0	1	2	3	1	2	4	6	0	0	4	6	2	1	rs776377170		C3N-00433_TP	C3N-00433_NB	G	G																c.958G>T	p.Gly320Trp	p.G320W	ENST00000428789	7/16	232	218	14	112	112	0	strelka-mutect	MGAT5B,missense_variant,p.Gly309Trp,ENST00000569840,NM_001199172.1;MGAT5B,missense_variant,p.Gly309Trp,ENST00000301618,NM_144677.2;MGAT5B,missense_variant,p.Gly320Trp,ENST00000428789,NM_198955.1;MGAT5B,non_coding_transcript_exon_variant,,ENST00000374998,;MGAT5B,missense_variant,p.Gly320Trp,ENST00000565043,;	T	ENST00000428789	Transcript	missense_variant	1061/4053	958/2406	320/801	G/W	Ggg/Tgg	rs776377170	1		1	MGAT5B	HGNC	HGNC:24140	protein_coding	YES	CCDS45788.1	ENSP00000391227	Q3V5L5		UPI0000231C88	NM_198955.1	deleterious(0)		7/16		Pfam_domain:PF15024,hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF6																	MODERATE	1	SNV	1			1										PASS		rs776377170	.												T	3	4	47	76906087	76906087	G	T	1	0	0	0	0	1	0	0	0	9510	1116	39	1		1	MGAT5B	17	76906087	Missense_Mutation	SNP	G	C3N-00433_TP	7981371	76906087	6351354	118	14902											
TK1	0	.	GRCh38	chr17	78174942	78174942	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttgtctgctcccccaatCacctcgacctggccgcaggg	6	9	9	17	2	2	0	1	0	1	0	4	1	3	0	5	2	2	2	5	2	2	2	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.522G>C	p.=	p.V174V	ENST00000301634	7/7	156	142	14	103	103	0	strelka-mutect	TK1,synonymous_variant,p.=,ENST00000588734,;TK1,synonymous_variant,p.=,ENST00000301634,NM_003258.4;TK1,synonymous_variant,p.=,ENST00000586613,;TK1,3_prime_UTR_variant,,ENST00000590430,;TK1,intron_variant,,ENST00000590862,;SYNGR2,downstream_gene_variant,,ENST00000225777,NM_004710.3;SYNGR2,downstream_gene_variant,,ENST00000590201,;SYNGR2,downstream_gene_variant,,ENST00000589168,;SYNGR2,downstream_gene_variant,,ENST00000589711,;SYNGR2,downstream_gene_variant,,ENST00000588282,;SYNGR2,downstream_gene_variant,,ENST00000585591,;SYNGR2,downstream_gene_variant,,ENST00000592456,;SYNGR2,downstream_gene_variant,,ENST00000591770,;SYNGR2,downstream_gene_variant,,ENST00000589183,;TK1,downstream_gene_variant,,ENST00000592126,;	G	ENST00000301634	Transcript	synonymous_variant	761/1628	522/705	174/234	V	gtG/gtC		1		-1	TK1	HGNC	HGNC:11830	protein_coding	YES	CCDS11754.1	ENSP00000301634	P04183		UPI000012DE94	NM_003258.4			7/7		hmmpanther:PTHR11441,hmmpanther:PTHR11441:SF0,Pfam_domain:PF00265,Gene3D:3.30.60.20,Superfamily_domains:SSF57716																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	47	78174942	78174942	C	G	1	0	0	0	0	0	0	0	1	16374	813	29	4		4	TK1	17	78174942	Silent	SNP	C	C3N-00433_TP	1268855	78174942	5082499	119	14903											
CCDC40	0	.	GRCh38	chr17	80048690	80048690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggccatggcagagagaGtggagtccgaggggagtgac	10	4	21	6	1	0	3	0	1	0	2	1	7	1	5	2	6	0	1	2	6	0	0	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.784G>T	p.Val262Leu	p.V262L	ENST00000397545	5/20	744	706	38	462	462	0	strelka-mutect	CCDC40,missense_variant,p.Val262Leu,ENST00000397545,NM_017950.3;CCDC40,missense_variant,p.Val262Leu,ENST00000374877,NM_001243342.1;CCDC40,missense_variant,p.Val262Leu,ENST00000374876,;CCDC40,missense_variant,p.Val262Leu,ENST00000269318,;CCDC40,missense_variant,p.Ser80Ile,ENST00000573474,;CCDC40,non_coding_transcript_exon_variant,,ENST00000574799,;CCDC40,downstream_gene_variant,,ENST00000576241,;	T	ENST00000397545	Transcript	missense_variant	811/4294	784/3429	262/1142	V/L	Gtg/Ttg		1		1	CCDC40	HGNC	HGNC:26090	protein_coding	YES	CCDS42395.1	ENSP00000380679	Q4G0X9		UPI0000201739	NM_017950.3	tolerated(0.75)		5/20		hmmpanther:PTHR16275,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs1397490311	.												T	3	4	47	80048690	80048690	G	T	1	0	0	0	0	1	0	0	0	2521	1029	36	2		2	CCDC40	17	80048690	Missense_Mutation	SNP	G	C3N-00433_TP	1873748	80048690	3208751	120	14904											
CDH2	0	.	GRCh38	chr18	27952249	27952249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaccaccactacttgaGgaattaagggagctcaagga	13	8	10	10	0	2	1	2	1	0	0	2	4	2	4	2	3	3	2	2	3	4	3	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.2625C>T	p.=	p.S875S	ENST00000269141	16/16	481	454	27	387	387	0	strelka-varscan-mutect	CDH2,synonymous_variant,p.=,ENST00000269141,NM_001792.3;CDH2,synonymous_variant,p.=,ENST00000399380,NM_001308176.1;AC015933.2,upstream_gene_variant,,ENST00000423367,;	A	ENST00000269141	Transcript	synonymous_variant	3049/4332	2625/2721	875/906	S	tcC/tcT		1		-1	CDH2	HGNC	HGNC:1759	protein_coding	YES	CCDS11891.1	ENSP00000269141	P19022	A0A024RC42	UPI000013D7FD	NM_001792.3			16/16		Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF79,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1464493037	.												A	2	1	47	27952249	27952249	G	A	1	0	0	0	0	0	0	0	1	2808	987	35	3		3	CDH2	18	27952249	Silent	SNP	G	C3N-00433_TP		27952249	52421036	121	14905											
KLHL14	0	.	GRCh38	chr18	32680324	32680324	+	Frame_Shift_Del	DEL	C	C	-																															catattctccattgtgtacaCcccctgtgaaataaacatag																								novel		C3N-00433_TP	C3N-00433_NB	C	C																c.1433delG	p.Gly478ValfsTer17	p.G478Vfs*17	ENST00000359358	7/9	90	85	5	80	80	0	varindel-pindel	KLHL14,frameshift_variant,p.Gly478ValfsTer17,ENST00000359358,NM_020805.1;	-	ENST00000359358	Transcript	frameshift_variant	1872/4312	1433/1887	478/628	G/X	gGt/gt		1		-1	KLHL14	HGNC	HGNC:29266	protein_coding	YES	CCDS32813.1	ENSP00000352314	Q9P2G3		UPI00001C1FF2	NM_020805.1			7/9		Superfamily_domains:0052715,Gene3D:1zgkA00,Pfam_domain:PF01344,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF60,SMART_domains:SM00612																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	47	32680324	32680324	C	-	1	0	1	0	1	0	0	0	0	8234	521	18	0		0	KLHL14	18	32680324	Frame_Shift_Del	DEL	C	C3N-00433_TP	4728075	32680324	47692961	122	14906											
MVB12A	0	.	GRCh38	chr19	17423507	17423507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtccagggacatgggCggctttgccatctggtgcaa	6	10	14	11	1	1	0	0	0	1	0	3	1	3	1	3	5	2	2	3	5	1	1			C3N-00433_TP	C3N-00433_NB	C	C																c.423C>T	p.=	p.G141G	ENST00000317040	5/9	152	143	9	67	67	0	strelka-varscan-mutect	MVB12A,missense_variant,p.Ala99Val,ENST00000528515,;MVB12A,synonymous_variant,p.=,ENST00000317040,NM_138401.3;MVB12A,synonymous_variant,p.=,ENST00000543795,;MVB12A,synonymous_variant,p.=,ENST00000529939,;MVB12A,synonymous_variant,p.=,ENST00000528911,;MVB12A,synonymous_variant,p.=,ENST00000600514,;MVB12A,synonymous_variant,p.=,ENST00000594784,;MVB12A,synonymous_variant,p.=,ENST00000528604,;BISPR,downstream_gene_variant,,ENST00000634942,;BISPR,downstream_gene_variant,,ENST00000634291,;CTD-2521M24.6,upstream_gene_variant,,ENST00000593957,;CTD-2521M24.8,upstream_gene_variant,,ENST00000597028,;MVB12A,downstream_gene_variant,,ENST00000528659,;MVB12A,downstream_gene_variant,,ENST00000529490,;MVB12A,non_coding_transcript_exon_variant,,ENST00000524382,;MVB12A,downstream_gene_variant,,ENST00000526234,;MVB12A,downstream_gene_variant,,ENST00000528997,;MVB12A,downstream_gene_variant,,ENST00000528732,;	T	ENST00000317040	Transcript	synonymous_variant	1478/2223	423/822	141/273	G	ggC/ggT	COSM1391463	1		1	MVB12A	HGNC	HGNC:25153	protein_coding	YES	CCDS12359.1	ENSP00000324810	Q96EY5	A0A024R7L6	UPI0000039EC7	NM_138401.3			5/9		PROSITE_profiles:PS51498,hmmpanther:PTHR31612,hmmpanther:PTHR31612:SF2,Pfam_domain:PF10240											1						LOW	1	SNV	1		1	1										PASS		rs890683307	.												T	2	4	47	17423507	17423507	C	T	1	0	0	0	0	0	0	0	1	9991	768	27	1		1	MVB12A	19	17423507	Silent	SNP	C	C3N-00433_TP		17423507	41194109	123	14907											
ZNF536	0	.	GRCh38	chr19	30444279	30444279	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccgctggccgcctgcacCctggccctgcaggctaacca	5	5	11	20	2	0	0	0	0	0	0	0	0	0	0	7	3	3	4	7	3	1	1	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.717C>A	p.=	p.T239T	ENST00000355537	2/5	246	231	15	116	116	0	strelka-varscan-mutect	ZNF536,synonymous_variant,p.=,ENST00000355537,NM_014717.1;ZNF536,synonymous_variant,p.=,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;	A	ENST00000355537	Transcript	synonymous_variant	864/4945	717/3903	239/1300	T	acC/acA		1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1			2/5		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5																	LOW	1	SNV	1			1										PASS		rs1204289475	.												A	2	1	47	30444279	30444279	C	A	1	0	0	0	0	0	0	0	1	18547	610	22	2		2	ZNF536	19	30444279	Silent	SNP	C	C3N-00433_TP	13020772	30444279	28173337	124	14908											
TSHZ3	0	.	GRCh38	chr19	31277408	31277408	+	Frame_Shift_Del	DEL	C	C	-																															gagcagcctttgtcactcttCccttttgtcaagtctatggg																								novel		C3N-00433_TP	C3N-00433_NB	C	C																c.2385delG	p.Lys796ArgfsTer27	p.K796Rfs*27	ENST00000240587	2/2	139	130	9	61	61	0	sindel-varindel-pindel	TSHZ3,frameshift_variant,p.Lys796ArgfsTer27,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;	-	ENST00000240587	Transcript	frameshift_variant	2713/5176	2385/3246	795/1081	G/X	ggG/gg		1		-1	TSHZ3	HGNC	HGNC:30700	protein_coding	YES	CCDS12421.2	ENSP00000240587	Q63HK5		UPI0000202000	NM_020856.2			2/2		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	47	31277408	31277408	C	-	1	0	1	0	1	0	0	0	0	17130	842	30	0		0	TSHZ3	19	31277408	Frame_Shift_Del	DEL	C	C3N-00433_TP	833129	31277408	27340208	125	14909											
SLC7A9	0	.	GRCh38	chr19	32862188	32862188	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagacagctgggcgccctCgaaagaattatcaaaattct	14	8	8	11	2	2	2	1	0	1	2	3	3	2	2	1	1	1	1	1	1	5	2	rs764731878		C3N-00433_TP	C3N-00433_NB	C	C																c.634G>T	p.Glu212Ter	p.E212*	ENST00000023064	6/13	464	414	50	251	251	0	strelka-varscan-mutect	SLC7A9,stop_gained,p.Glu212Ter,ENST00000023064,NM_001243036.1,NM_001126335.1,NM_014270.4;SLC7A9,stop_gained,p.Glu212Ter,ENST00000590341,;SLC7A9,stop_gained,p.Glu212Ter,ENST00000587772,;RN7SKP22,downstream_gene_variant,,ENST00000365097,;SLC7A9,non_coding_transcript_exon_variant,,ENST00000589659,;SLC7A9,intron_variant,,ENST00000590465,;SLC7A9,intron_variant,,ENST00000592232,;	A	ENST00000023064	Transcript	stop_gained	826/1761	634/1464	212/487	E/*	Gag/Tag	rs764731878	1		-1	SLC7A9	HGNC	HGNC:11067	protein_coding	YES	CCDS12425.1	ENSP00000023064	P82251		UPI0000037773	NM_001243036.1,NM_001126335.1,NM_014270.4			6/13		hmmpanther:PTHR11785:SF354,hmmpanther:PTHR11785,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060																	HIGH	1	SNV	1			1										PASS		rs764731878	.												A	4	1	47	32862188	32862188	C	A	1	0	0	0	0	0	1	0	0	14988	893	31	1		1	SLC7A9	19	32862188	Nonsense_Mutation	SNP	C	C3N-00433_TP	1584780	32862188	25755428	126	14910											
LIN37	0	.	GRCh38	chr19	35754081	35754081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgccacccacacccccggGgccacccggagatgcctgca	7	2	11	21	3	0	1	0	0	0	1	0	2	0	1	8	3	2	1	8	3	0	0	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.509G>T	p.Gly170Val	p.G170V	ENST00000301159	7/9	443	384	59	214	213	1	strelka-varscan-mutect	LIN37,missense_variant,p.Gly170Val,ENST00000301159,NM_019104.2;LIN37,missense_variant,p.Gly87Val,ENST00000591163,;PROSER3,upstream_gene_variant,,ENST00000396908,NM_001039887.2;HSPB6,downstream_gene_variant,,ENST00000592984,;HSPB6,downstream_gene_variant,,ENST00000004982,NM_144617.2;PROSER3,upstream_gene_variant,,ENST00000536950,;PROSER3,upstream_gene_variant,,ENST00000301165,;PROSER3,upstream_gene_variant,,ENST00000537459,;HSPB6,downstream_gene_variant,,ENST00000587965,;PROSER3,upstream_gene_variant,,ENST00000421853,;PROSER3,upstream_gene_variant,,ENST00000444637,;LIN37,downstream_gene_variant,,ENST00000587751,;AC002398.11,upstream_gene_variant,,ENST00000591091,;AC002398.12,upstream_gene_variant,,ENST00000587767,;PROSER3,upstream_gene_variant,,ENST00000544876,;LIN37,downstream_gene_variant,,ENST00000591076,;LIN37,3_prime_UTR_variant,,ENST00000595455,;AC002398.9,3_prime_UTR_variant,,ENST00000591613,;LIN37,non_coding_transcript_exon_variant,,ENST00000587108,;LIN37,non_coding_transcript_exon_variant,,ENST00000590890,;PROSER3,upstream_gene_variant,,ENST00000620918,;PROSER3,upstream_gene_variant,,ENST00000600988,;LIN37,downstream_gene_variant,,ENST00000590706,;LIN37,downstream_gene_variant,,ENST00000592871,;	T	ENST00000301159	Transcript	missense_variant	873/1150	509/741	170/246	G/V	gGg/gTg		1		1	LIN37	HGNC	HGNC:33234	protein_coding	YES	CCDS62642.1	ENSP00000301159	Q96GY3		UPI0000072738	NM_019104.2	tolerated(0.51)		7/9		Low_complexity_(Seg):seg,hmmpanther:PTHR31336,Pfam_domain:PF15306																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	35754081	35754081	G	T	1	0	0	0	0	1	0	0	0	8715	1232	43	2		2	LIN37	19	35754081	Missense_Mutation	SNP	G	C3N-00433_TP	2891893	35754081	22863535	127	14911											
ZFP30	0	.	GRCh38	chr19	37635394	37635394	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctgacattccttacattCatagggcttttcaccagtat	9	16	5	11	0	3	1	2	1	1	0	4	1	4	1	2	1	1	2	2	1	3	8	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.1147G>C	p.Glu383Gln	p.E383Q	ENST00000351218	6/6	143	111	32	188	188	0	strelka-varscan-mutect	ZFP30,missense_variant,p.Glu383Gln,ENST00000351218,NM_014898.2;ZFP30,missense_variant,p.Glu383Gln,ENST00000514101,NM_001320668.1,NM_001320670.1,NM_001320671.1,NM_001320667.1,NM_001320669.1;ZFP30,missense_variant,p.Glu383Gln,ENST00000392144,;ZFP30,intron_variant,,ENST00000589018,;ZFP30,downstream_gene_variant,,ENST00000587809,;	G	ENST00000351218	Transcript	missense_variant	1705/6090	1147/1560	383/519	E/Q	Gaa/Caa		1		-1	ZFP30	HGNC	HGNC:29555	protein_coding	YES	CCDS33005.1	ENSP00000343581	Q9Y2G7	D3Y2A0	UPI0000139E7F	NM_014898.2	deleterious(0.03)		6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF246,hmmpanther:PTHR24377,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	47	37635394	37635394	C	G	1	0	0	0	0	1	0	0	0	18219	835	29	4		4	ZFP30	19	37635394	Missense_Mutation	SNP	C	C3N-00433_TP	1881313	37635394	20982222	128	14912											
IRGQ	0	.	GRCh38	chr19	43592785	43592785	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcgatccagcgctacatttCtcccttcccttactgagtgc	6	13	7	15	2	1	1	0	1	1	0	4	2	3	1	3	0	5	1	3	0	2	4			C3N-00433_TP	C3N-00433_NB	C	C																c.1113G>A	p.=	p.E371E	ENST00000422989	3/3	495	465	30	320	320	0	strelka-varscan-mutect	IRGQ,synonymous_variant,p.=,ENST00000422989,NM_001007561.2;IRGQ,synonymous_variant,p.=,ENST00000602269,;L34079.2,intron_variant,,ENST00000594374,;SRRM5,upstream_gene_variant,,ENST00000607544,;ZNF576,upstream_gene_variant,,ENST00000336564,NM_001145347.1;ZNF576,upstream_gene_variant,,ENST00000525771,;ZNF576,upstream_gene_variant,,ENST00000391965,NM_024327.2;ZNF576,upstream_gene_variant,,ENST00000533118,;ZNF576,upstream_gene_variant,,ENST00000528387,;ZNF576,upstream_gene_variant,,ENST00000529930,;IRGQ,downstream_gene_variant,,ENST00000598324,;IRGQ,non_coding_transcript_exon_variant,,ENST00000601520,;IRGQ,upstream_gene_variant,,ENST00000596409,;ZNF576,upstream_gene_variant,,ENST00000595041,;	T	ENST00000422989	Transcript	synonymous_variant	1269/9685	1113/1872	371/623	E	gaG/gaA	COSM1210913	1		-1	IRGQ	HGNC	HGNC:24868	protein_coding	YES	CCDS33040.1	ENSP00000387535	Q8WZA9		UPI000003FDB6	NM_001007561.2			3/3		PROSITE_profiles:PS51716,hmmpanther:PTHR19364,hmmpanther:PTHR19364:SF2											1						LOW		SNV	5		1	1										PASS		.	.												T	2	4	47	43592785	43592785	C	T	1	0	0	0	0	0	0	0	1	7747	912	32	3		3	IRGQ	19	43592785	Silent	SNP	C	C3N-00433_TP	5957391	43592785	15024831	129	14913											
FTL	0	.	GRCh38	chr19	48966368	48966374	+	Frame_Shift_Del	DEL	GATCTTC	GATCTTC	-																															agctgaaccaggcccttttgGatcttcatgccctgggttct																								novel		C3N-00433_TP	C3N-00433_NB	GATCTTC	GATCTTC																c.337_343delGATCTTC	p.Asp113MetfsTer21	p.D113Mfs*21	ENST00000331825	3/4	735	682	53	462	462	0	sindel-varindel-pindel	FTL,frameshift_variant,p.Asp113MetfsTer21,ENST00000331825,NM_000146.3;GYS1,downstream_gene_variant,,ENST00000323798,NM_002103.4;GYS1,downstream_gene_variant,,ENST00000263276,NM_001161587.1;BAX,downstream_gene_variant,,ENST00000293288,NM_004324.3;BAX,downstream_gene_variant,,ENST00000345358,NM_001291428.1,NM_138761.3;BAX,downstream_gene_variant,,ENST00000391871,;BAX,downstream_gene_variant,,ENST00000415969,NM_138764.4;BAX,downstream_gene_variant,,ENST00000354470,NM_138763.3;GYS1,downstream_gene_variant,,ENST00000594220,;BAX,downstream_gene_variant,,ENST00000506183,;CTD-2639E6.9,downstream_gene_variant,,ENST00000599784,;CTD-2639E6.9,downstream_gene_variant,,ENST00000594305,;BAX,downstream_gene_variant,,ENST00000502487,;BAX,downstream_gene_variant,,ENST00000513545,;BAX,downstream_gene_variant,,ENST00000356483,;GYS1,downstream_gene_variant,,ENST00000472004,;GYS1,downstream_gene_variant,,ENST00000496048,;	-	ENST00000331825	Transcript	frameshift_variant	544-550/878	337-343/528	113-115/175	DLH/X	GATCTTCat/at		1		1	FTL	HGNC	HGNC:3999	protein_coding	YES	CCDS33070.1	ENSP00000366525	P02792		UPI0000161F61	NM_000146.3			3/4		Gene3D:1.20.1260.10,Pfam_domain:PF00210,PROSITE_profiles:PS50905,hmmpanther:PTHR11431,Superfamily_domains:SSF47240																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	47	48966368	48966368	GATCTTC	-	1	0	1	0	1	0	0	0	0	5958	1174	41	0		0	FTL	19	48966368	Frame_Shift_Del	DEL	GATCTTC	C3N-00433_TP	5373583	48966368	9651248	130	14914											
CGB1	0	.	GRCh38	chr19	49035611	49035611	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgggaggatcggggtgtccTagggccccgggagacgggat	6	6	21	8	3	0	1	0	0	0	1	2	5	1	4	3	7	0	0	3	7	1	1	rs200329830		C3N-00433_TP	C3N-00433_NB	T	T																c.467A>G	p.Ter156TrpextTer?	p.*156Wext*?	ENST00000301407	3/3	350	326	24	212	211	1	varscan-mutect	CGB1,stop_lost,p.Ter156TrpextTer?,ENST00000301407,NM_033377.1;CTB-60B18.6,intron_variant,,ENST00000591656,;CTB-60B18.6,intron_variant,,ENST00000604577,;CGB1,downstream_gene_variant,,ENST00000601167,;CGB2,downstream_gene_variant,,ENST00000474913,NM_001319065.1;CGB2,downstream_gene_variant,,ENST00000359342,NM_033378.1;NTF6B,downstream_gene_variant,,ENST00000591913,;	C	ENST00000301407	Transcript	stop_lost	572/573	467/468	156/155	*/W	tAg/tGg	rs200329830	1		-1	CGB1	HGNC	HGNC:16721	protein_coding	YES	CCDS12751.2	ENSP00000301407	A6NKQ9		UPI0000EE7C13	NM_033377.1			3/3																			HIGH	1	SNV	1			1										PASS		rs200329830	.												C	4	2	47	49035611	49035611	T	C	1	0	0	0	0	0	0	0	0	3054	1536	53	5		5	CGB1	19	49035611	Nonstop_Mutation	SNP	T	C3N-00433_TP	69243	49035611	9582005	131	14915											
PRR12	0	.	GRCh38	chr19	49596946	49596946	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccccgcctgcgacccGaggagagcctggatccgcca	7	3	12	19	4	0	1	0	0	0	1	1	5	1	2	8	2	3	0	8	2	0	0	rs753477453		C3N-00433_TP	C3N-00433_NB	G	G																c.2611G>T	p.Glu871Ter	p.E871*	ENST00000418929	4/14	377	354	23	206	206	0	strelka-varscan-mutect	PRR12,stop_gained,p.Glu871Ter,ENST00000418929,NM_020719.1;PRR12,stop_gained,p.Glu50Ter,ENST00000615927,;	T	ENST00000418929	Transcript	stop_gained	2623/6955	2611/6111	871/2036	E/*	Gag/Tag	rs753477453	1		1	PRR12	HGNC	HGNC:29217	protein_coding	YES	CCDS46143.1	ENSP00000394510	Q9ULL5		UPI0001596889	NM_020719.1			4/14		hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF1																	HIGH	1	SNV	5			1										PASS		rs753477453	.												T	4	4	47	49596946	49596946	G	T	1	0	0	0	0	0	1	0	0	12719	1059	37	1		1	PRR12	19	49596946	Nonsense_Mutation	SNP	G	C3N-00433_TP	561335	49596946	9020670	132	14916											
CCDC106	0	.	GRCh38	chr19	55652698	55652698	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaagaaggtgcaggcgctCaagaagagcaagctgctgct	12	6	13	10	1	2	3	2	0	0	3	2	3	2	3	0	2	5	6	0	2	5	0	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.795C>G	p.=	p.L265L	ENST00000586790	5/5	240	219	21	152	152	0	strelka-varscan-mutect	CCDC106,synonymous_variant,p.=,ENST00000586790,;CCDC106,synonymous_variant,p.=,ENST00000591578,;CCDC106,synonymous_variant,p.=,ENST00000308964,NM_013301.2;CCDC106,synonymous_variant,p.=,ENST00000588740,;CCDC106,synonymous_variant,p.=,ENST00000591241,;U2AF2,upstream_gene_variant,,ENST00000450554,NM_001012478.1;U2AF2,upstream_gene_variant,,ENST00000308924,NM_007279.2;CCDC106,downstream_gene_variant,,ENST00000592996,;CCDC106,downstream_gene_variant,,ENST00000587213,;CCDC106,downstream_gene_variant,,ENST00000593069,;U2AF2,upstream_gene_variant,,ENST00000587196,;CCDC106,downstream_gene_variant,,ENST00000586864,;U2AF2,upstream_gene_variant,,ENST00000588850,;	G	ENST00000586790	Transcript	synonymous_variant	1699/2162	795/843	265/280	L	ctC/ctG		1		1	CCDC106	HGNC	HGNC:30181	protein_coding	YES	CCDS33118.1	ENSP00000465757	Q9BWC9		UPI0000072074				5/5		Pfam_domain:PF15794,hmmpanther:PTHR16477,hmmpanther:PTHR16477:SF2																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	47	55652698	55652698	C	G	1	0	0	0	0	0	0	0	1	2438	813	29	4		4	CCDC106	19	55652698	Silent	SNP	C	C3N-00433_TP	6055752	55652698	2964918	133	14917											
NLRP5	0	.	GRCh38	chr19	56027564	56027564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccacttgctccttgagcGcgggattggtgagcatcaga	9	10	12	10	2	1	3	1	2	0	1	3	4	3	4	2	2	3	2	2	2	1	3	rs759531334		C3N-00433_TP	C3N-00433_NB	G	G																c.1331G>A	p.Arg444His	p.R444H	ENST00000390649	7/15	479	451	28	347	347	0	strelka-varscan-mutect	NLRP5,missense_variant,p.Arg444His,ENST00000390649,NM_153447.4;NLRP5,missense_variant,p.Arg444His,ENST00000621651,;	A	ENST00000390649	Transcript	missense_variant	1331/3888	1331/3603	444/1200	R/H	cGc/cAc	rs759531334	1		1	NLRP5	HGNC	HGNC:21269	protein_coding	YES	CCDS12938.1	ENSP00000375063	P59047		UPI00001AEEBD	NM_153447.4	tolerated(1)		7/15		hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs759531334	.												A	3	1	47	56027564	56027564	G	A	1	0	0	0	0	1	0	0	0	10518	1087	38	1		1	NLRP5	19	56027564	Missense_Mutation	SNP	G	C3N-00433_TP	374866	56027564	2590052	134	14918											
ZNF530	0	.	GRCh38	chr19	57606067	57606067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagggacttttcagccacctCaggacttctccagcatcagg	9	9	10	13	0	4	0	3	0	1	0	5	3	4	2	3	3	2	1	3	3	0	3	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.542C>T	p.Ser181Leu	p.S181L	ENST00000332854	3/3	151	141	10	149	149	0	strelka-varscan-mutect	ZNF530,missense_variant,p.Ser181Leu,ENST00000332854,NM_020880.3;ZNF530,intron_variant,,ENST00000597864,;ZNF530,downstream_gene_variant,,ENST00000597700,;ZNF530,missense_variant,p.Ser181Leu,ENST00000600619,;ZNF530,non_coding_transcript_exon_variant,,ENST00000598297,;	T	ENST00000332854	Transcript	missense_variant	762/2962	542/1800	181/599	S/L	tCa/tTa		1		1	ZNF530	HGNC	HGNC:29297	protein_coding	YES	CCDS12955.1	ENSP00000332861	Q6P9A1		UPI0000199017	NM_020880.3	tolerated(0.66)		3/3																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	57606067	57606067	C	T	1	0	0	0	0	1	0	0	0	18544	838	29	3		3	ZNF530	19	57606067	Missense_Mutation	SNP	C	C3N-00433_TP	1578503	57606067	1011549	135	14919											
NKX2-2	0	.	GRCh38	chr20	21511934	21511934	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggcgctcaccaagtccActgctgggcctggaccaggg	6	5	16	14	2	1	0	1	0	0	0	2	1	2	1	4	5	1	2	4	5	1	0	novel		C3N-00433_TP	C3N-00433_NB	A	A																c.811T>C	p.Trp271Arg	p.W271R	ENST00000377142	2/2	86	79	7	56	56	0	strelka-varscan-mutect	NKX2-2,missense_variant,p.Trp271Arg,ENST00000377142,NM_002509.3;NKX2-2-AS1,intron_variant,,ENST00000549659,;	G	ENST00000377142	Transcript	missense_variant	1168/2092	811/822	271/273	W/R	Tgg/Cgg		1		-1	NKX2-2	HGNC	HGNC:7835	protein_coding	YES	CCDS13145.1	ENSP00000366347	O95096		UPI00001301E6	NM_002509.3	deleterious(0)		2/2		hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF24																	MODERATE	1	SNV	1			1										PASS		rs1402311246	.												G	3	3	47	21511934	21511934	A	G	1	0	0	0	0	1	0	0	0	10486	159	6	5		5	NKX2-2	20	21511934	Missense_Mutation	SNP	A	C3N-00433_TP		21511934	42932233	136	14920											
XKR7	0	.	GRCh38	chr20	31995255	31995255	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgcaccgcggtggcgcgCccgacctgctgccgggtgag	3	6	18	14	6	0	1	0	1	0	0	0	2	0	1	4	4	3	2	4	4	0	0	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.772C>A	p.Pro258Thr	p.P258T	ENST00000562532	2/3	475	441	34	255	254	1	strelka-varscan-mutect	XKR7,missense_variant,p.Pro258Thr,ENST00000562532,NM_001011718.1;	A	ENST00000562532	Transcript	missense_variant	946/7844	772/1740	258/579	P/T	Ccc/Acc		1		1	XKR7	HGNC	HGNC:23062	protein_coding	YES	CCDS33459.1	ENSP00000477059	Q5GH72		UPI00004C7A9E	NM_001011718.1	tolerated(0.58)		2/3		Pfam_domain:PF09815,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF9,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	47	31995255	31995255	C	A	1	0	0	0	0	1	0	0	0	17995	739	26	2		2	XKR7	20	31995255	Missense_Mutation	SNP	C	C3N-00433_TP	10483321	31995255	32448912	137	14921											
PLAGL2	0	.	GRCh38	chr20	32197122	32197122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggccatgcacagcacaGggctcagctcttccttcaca	10	7	10	14	0	3	1	2	0	1	1	4	2	4	1	2	2	3	4	2	2	0	2	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.821C>T	p.Pro274Leu	p.P274L	ENST00000246229	3/3	637	594	43	349	349	0	varscan-mutect	PLAGL2,missense_variant,p.Pro274Leu,ENST00000246229,NM_002657.3;	A	ENST00000246229	Transcript	missense_variant	1086/5705	821/1491	274/496	P/L	cCt/cTt		1		-1	PLAGL2	HGNC	HGNC:9047	protein_coding	YES	CCDS13197.1	ENSP00000246229	Q9UPG8		UPI0000001C1D	NM_002657.3	tolerated(0.22)		3/3		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF124																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	47	32197122	32197122	G	A	1	0	0	0	0	1	0	0	0	12114	1000	35	3		3	PLAGL2	20	32197122	Missense_Mutation	SNP	G	C3N-00433_TP	201867	32197122	32247045	138	14922											
DYNLRB1	0	.	GRCh38	chr20	34534685	34534685	+	Frame_Shift_Del	DEL	T	T	-																															cacccagtatgccagcctcaTgcacagcttcatcctgaagg																								novel		C3N-00433_TP	C3N-00433_NB	T	T																c.137delT	p.Met46SerfsTer6	p.M46Sfs*6	ENST00000357156	3/4	80	74	6	41	41	0	sindel-pindel	DYNLRB1,frameshift_variant,p.Met98SerfsTer6,ENST00000374846,;DYNLRB1,frameshift_variant,p.Met46SerfsTer6,ENST00000357156,NM_001281727.1,NM_014183.3;DYNLRB1,downstream_gene_variant,,ENST00000300469,;DYNLRB1,non_coding_transcript_exon_variant,,ENST00000480759,;	-	ENST00000357156	Transcript	frameshift_variant	187/675	137/291	46/96	M/X	aTg/ag		1		1	DYNLRB1	HGNC	HGNC:15468	protein_coding	YES	CCDS13235.1	ENSP00000349679	Q9NP97		UPI0000040BFB	NM_001281727.1,NM_014183.3			3/4		hmmpanther:PTHR10779:SF17,hmmpanther:PTHR10779,PIRSF_domain:PIRSF009998,Gene3D:3.30.450.30,Pfam_domain:PF03259,SMART_domains:SM00960,Superfamily_domains:SSF103196																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	47	34534685	34534685	T	-	1	0	1	0	1	0	0	0	0	4674	1464	51	0		0	DYNLRB1	20	34534685	Frame_Shift_Del	DEL	T	C3N-00433_TP	2337563	34534685	29909482	139	14923											
PLCG1	0	.	GRCh38	chr20	41172879	41172879	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgccatctctattgaggTgggtgctgctcatctgggct	5	14	13	9	0	3	1	1	1	2	0	4	1	3	1	1	3	3	3	1	3	1	2	novel		C3N-00433_TP	C3N-00433_NB	T	T																c.3279+2T>G		p.X1093_splice	ENST00000244007		123	112	11	68	68	0	strelka-varscan-mutect	PLCG1,splice_donor_variant,,ENST00000373271,NM_182811.1;PLCG1,splice_donor_variant,,ENST00000244007,NM_002660.2;PLCG1,intron_variant,,ENST00000612731,;MIR6871,downstream_gene_variant,,ENST00000613433,;PLCG1,splice_donor_variant,,ENST00000608689,;PLCG1,downstream_gene_variant,,ENST00000617873,;PLCG1,upstream_gene_variant,,ENST00000609821,;PLCG1,downstream_gene_variant,,ENST00000619272,;PLCG1,splice_donor_variant,,ENST00000461641,;PLCG1,splice_donor_variant,,ENST00000599785,;PLCG1,splice_donor_variant,,ENST00000608885,;PLCG1,downstream_gene_variant,,ENST00000483175,;PLCG1,downstream_gene_variant,,ENST00000477870,;PLCG1,upstream_gene_variant,,ENST00000607954,;PLCG1,upstream_gene_variant,,ENST00000609257,;	G	ENST00000244007	Transcript	splice_donor_variant	-/5285	3279/3876	1093/1291				1		1	PLCG1	HGNC	HGNC:9065	protein_coding	YES	CCDS13313.1	ENSP00000244007	P19174		UPI00001B94DD	NM_002660.2				28/32																		HIGH	1	SNV	5			1										PASS		.	.												G	5	3	47	41172879	41172879	T	G	1	0	0	0	0	0	0	1	0	12129	1710	59	5		5	PLCG1	20	41172879	Splice_Site	SNP	T	C3N-00433_TP	6638194	41172879	23271288	140	14924											
PTPRT	0	.	GRCh38	chr20	42678018	42678018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactatgtgggtctctgccCacgtgcctgtggtggtgcga	4	11	15	11	3	1	0	0	0	1	0	2	2	1	0	2	3	3	0	2	3	1	1			C3N-00433_TP	C3N-00433_NB	C	C																c.1001G>T	p.Trp334Leu	p.W334L	ENST00000373198	7/32	667	630	37	339	338	1	strelka-varscan-mutect	PTPRT,missense_variant,p.Trp334Leu,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Trp334Leu,ENST00000373193,;PTPRT,missense_variant,p.Trp334Leu,ENST00000373201,;PTPRT,missense_variant,p.Trp334Leu,ENST00000373190,;PTPRT,missense_variant,p.Trp334Leu,ENST00000373184,;PTPRT,missense_variant,p.Trp334Leu,ENST00000356100,;PTPRT,missense_variant,p.Trp334Leu,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Trp263Leu,ENST00000620410,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	A	ENST00000373198	Transcript	missense_variant	1237/12746	1001/4383	334/1460	W/L	tGg/tTg	COSM3291985,COSM3546595	1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	tolerated(0.1)		7/32		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,SMART_domains:SM00060,Superfamily_domains:SSF49265											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												A	3	1	47	42678018	42678018	C	A	1	0	0	0	0	1	0	0	0	12967	595	21	2		2	PTPRT	20	42678018	Missense_Mutation	SNP	C	C3N-00433_TP	1505139	42678018	21766149	141	14925											
TAF4	0	.	GRCh38	chr20	62006626	62006626	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttcccggccgtgcgctGgaccgagctactcagcacca	6	7	11	17	5	2	0	1	0	1	0	3	2	3	1	4	2	4	3	4	2	1	2	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.2107C>T	p.Gln703Ter	p.Q703*	ENST00000252996	7/15	155	145	10	82	81	1	strelka-mutect	TAF4,stop_gained,p.Gln703Ter,ENST00000252996,NM_003185.3;TAF4,stop_gained,p.Gln50Ter,ENST00000488539,;TAF4,downstream_gene_variant,,ENST00000609045,;TAF4,non_coding_transcript_exon_variant,,ENST00000609041,;TAF4,non_coding_transcript_exon_variant,,ENST00000436129,;TAF4,downstream_gene_variant,,ENST00000486599,;	A	ENST00000252996	Transcript	stop_gained	2107/4628	2107/3258	703/1085	Q/*	Cag/Tag		1		-1	TAF4	HGNC	HGNC:11537	protein_coding	YES	CCDS33500.1	ENSP00000252996	O00268		UPI000020630A	NM_003185.3			7/15		hmmpanther:PTHR15138:SF18,hmmpanther:PTHR15138																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	47	62006626	62006626	G	A	1	0	0	0	0	0	1	0	0	15922	1357	47	3		3	TAF4	20	62006626	Nonsense_Mutation	SNP	G	C3N-00433_TP	19328608	62006626	2437541	142	14926											
COL20A1	0	.	GRCh38	chr20	63311743	63311743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccggggcatccgtgccaGgacccgtgagtgctccaacc	6	5	14	16	3	0	1	0	1	0	0	2	2	2	2	6	4	3	2	6	4	1	0	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.1658G>T	p.Arg553Met	p.R553M	ENST00000358894	13/36	274	247	27	142	142	0	strelka-varscan-mutect	COL20A1,missense_variant,p.Arg560Met,ENST00000422202,;COL20A1,missense_variant,p.Arg553Met,ENST00000358894,NM_020882.2;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;	T	ENST00000358894	Transcript	missense_variant	1758/4172	1658/3855	553/1284	R/M	aGg/aTg		1		1	COL20A1	HGNC	HGNC:14670	protein_coding	YES	CCDS46628.1	ENSP00000351767	Q9P218		UPI000051910D	NM_020882.2	deleterious(0.03)		13/36		PROSITE_profiles:PS50853																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	63311743	63311743	G	T	1	0	0	0	0	1	0	0	0	3467	1014	35	2		2	COL20A1	20	63311743	Missense_Mutation	SNP	G	C3N-00433_TP	1305117	63311743	1132424	143	14927											
LKAAEAR1	0	.	GRCh38	chr20	64083942	64083942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgactgcgtccacgggcgcGggtcgggcatgcggtacccc	4	5	17	15	7	0	0	0	0	0	0	2	1	1	0	3	4	3	2	3	4	1	1	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.278C>A	p.Pro93Gln	p.P93Q	ENST00000308906	1/2	155	145	10	67	67	0	strelka-varscan-mutect	LKAAEAR1,missense_variant,p.Pro93Gln,ENST00000308906,NM_001007125.1;LKAAEAR1,missense_variant,p.Pro93Gln,ENST00000302096,;OPRL1,intron_variant,,ENST00000336866,NM_001318853.1,NM_182647.2;OPRL1,intron_variant,,ENST00000355631,NM_001318854.1,NM_000913.4;OPRL1,upstream_gene_variant,,ENST00000349451,NM_001200019.1;RGS19,upstream_gene_variant,,ENST00000395042,NM_005873.2;RGS19,upstream_gene_variant,,ENST00000332298,NM_001039467.1;RGS19,upstream_gene_variant,,ENST00000493165,;RGS19,upstream_gene_variant,,ENST00000479996,;	T	ENST00000308906	Transcript	missense_variant	418/868	278/723	93/240	P/Q	cCg/cAg		1		-1	LKAAEAR1	HGNC	HGNC:33718	protein_coding	YES	CCDS33509.1	ENSP00000310801	Q8TD35		UPI0000070EB4	NM_001007125.1	deleterious(0.02)		1/2		hmmpanther:PTHR35665,Pfam_domain:PF15478																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	64083942	64083942	G	T	1	0	0	0	0	1	0	0	0	8756	1116	39	1		1	LKAAEAR1	20	64083942	Missense_Mutation	SNP	G	C3N-00433_TP	772199	64083942	360225	144	14928											
MYT1	0	.	GRCh38	chr20	64232217	64232217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagcgggaaatacgcctCtcacaggagcgcatccggct	10	6	11	14	4	2	0	2	0	1	0	4	2	3	2	2	3	3	2	2	3	2	1	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.2729C>A	p.Ser910Tyr	p.S910Y	ENST00000328439	19/23	619	579	40	354	351	3	strelka-varscan-mutect	MYT1,missense_variant,p.Ser937Tyr,ENST00000536311,;MYT1,missense_variant,p.Ser910Tyr,ENST00000328439,NM_004535.2;MYT1,downstream_gene_variant,,ENST00000622439,;MYT1,downstream_gene_variant,,ENST00000360149,;	A	ENST00000328439	Transcript	missense_variant	3093/5535	2729/3366	910/1121	S/Y	tCt/tAt		1		1	MYT1	HGNC	HGNC:7622	protein_coding	YES	CCDS13558.1	ENSP00000327465	Q01538		UPI000012FBFA	NM_004535.2	deleterious(0)		19/23		Superfamily_domains:0042508,Pfam_domain:PF01530,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	47	64232217	64232217	C	A	1	0	0	0	0	1	0	0	0	10105	913	32	2		2	MYT1	20	64232217	Missense_Mutation	SNP	C	C3N-00433_TP	148275	64232217	211950	145	14929											
NRIP1	0	.	GRCh38	chr21	14967806	14967806	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaggccagtaatgtgctAtcctgtttgcctttaggcac	10	12	10	9	0	0	1	0	0	0	1	1	1	1	1	3	2	2	4	3	2	4	5	novel		C3N-00433_TP	C3N-00433_NB	A	A																c.387T>A	p.Asp129Glu	p.D129E	ENST00000400202	3/3	126	119	7	91	91	0	strelka-varscan-mutect	NRIP1,missense_variant,p.Asp129Glu,ENST00000400202,;NRIP1,missense_variant,p.Asp129Glu,ENST00000400199,;NRIP1,missense_variant,p.Asp129Glu,ENST00000318948,NM_003489.3;NRIP1,downstream_gene_variant,,ENST00000411932,;NRIP1,downstream_gene_variant,,ENST00000638122,;AF127936.9,intron_variant,,ENST00000432230,;AF127577.11,upstream_gene_variant,,ENST00000436429,;AF127577.10,downstream_gene_variant,,ENST00000446301,;	T	ENST00000400202	Transcript	missense_variant	1100/7671	387/3477	129/1158	D/E	gaT/gaA		1		-1	NRIP1	HGNC	HGNC:8001	protein_coding	YES	CCDS13568.1	ENSP00000383063	P48552		UPI000004A0A8		tolerated(0.48)		3/3		hmmpanther:PTHR15088,Pfam_domain:PF15687																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	47	14967806	14967806	A	T	1	0	0	0	0	1	0	0	0	10710	446	16	4		4	NRIP1	21	14967806	Missense_Mutation	SNP	A	C3N-00433_TP		14967806	31742177	146	14930											
AIRE	0	.	GRCh38	chr21	44287048	44287048	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctttggtaccgccaccCagactccccaccaagaggaa	12	5	9	15	1	0	2	0	0	0	2	1	3	1	3	6	3	1	2	6	3	4	2	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.378C>A	p.=	p.P126P	ENST00000291582	3/14	411	389	22	212	212	0	strelka-varscan-mutect	AIRE,synonymous_variant,p.=,ENST00000291582,NM_000383.3;AIRE,non_coding_transcript_exon_variant,,ENST00000530812,;AIRE,non_coding_transcript_exon_variant,,ENST00000527919,;AIRE,upstream_gene_variant,,ENST00000337909,;AIRE,upstream_gene_variant,,ENST00000397994,;	A	ENST00000291582	Transcript	synonymous_variant	505/2257	378/1638	126/545	P	ccC/ccA		1		1	AIRE	HGNC	HGNC:360	protein_coding	YES	CCDS13706.1	ENSP00000291582	O43918		UPI0000030FA6	NM_000383.3			3/14		hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF15,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	47	44287048	44287048	C	A	1	0	0	0	0	0	0	0	1	514	581	21	2		2	AIRE	21	44287048	Silent	SNP	C	C3N-00433_TP	29319242	44287048	2422935	147	14931											
PCNT	0	.	GRCh38	chr21	46346893	46346893	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaacagccggcgtgcccagGagctggccctgctacagagc	8	5	13	15	2	1	1	1	0	0	1	1	2	1	2	3	3	7	2	3	3	2	1	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.871G>T	p.Glu291Ter	p.E291*	ENST00000359568	5/47	455	429	26	224	224	0	strelka-varscan-mutect	PCNT,stop_gained,p.Glu291Ter,ENST00000359568,NM_006031.5;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,non_coding_transcript_exon_variant,,ENST00000490468,;PCNT,non_coding_transcript_exon_variant,,ENST00000466474,;PCNT,upstream_gene_variant,,ENST00000483844,;	T	ENST00000359568	Transcript	stop_gained	978/10560	871/10011	291/3336	E/*	Gag/Tag		1		1	PCNT	HGNC	HGNC:16068	protein_coding	YES	CCDS33592.1	ENSP00000352572	O95613		UPI00001AEB88	NM_006031.5			5/47																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	47	46346893	46346893	G	T	1	0	0	0	0	0	1	0	0	11678	1175	41	2		2	PCNT	21	46346893	Nonsense_Mutation	SNP	G	C3N-00433_TP	2059845	46346893	363090	148	14932											
MICAL3	0	.	GRCh38	chr22	17901901	17901901	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggtgttcctccgaccaTccccaccgatgatcacttca	9	9	6	17	2	2	1	2	1	0	0	5	3	5	1	7	1	0	1	7	1	1	2	novel		C3N-00433_TP	C3N-00433_NB	T	T																c.668A>G	p.Asp223Gly	p.D223G	ENST00000441493	5/32	119	102	17	77	77	0	strelka-varscan-mutect	MICAL3,missense_variant,p.Asp223Gly,ENST00000441493,NM_015241.2;MICAL3,missense_variant,p.Asp223Gly,ENST00000414725,;MICAL3,missense_variant,p.Asp223Gly,ENST00000585038,NM_001136004.3;MICAL3,missense_variant,p.Asp223Gly,ENST00000400561,NM_001122731.2;MICAL3,missense_variant,p.Asp223Gly,ENST00000383094,;MICAL3,downstream_gene_variant,,ENST00000424046,;MICAL3,missense_variant,p.Asp223Gly,ENST00000495076,;	C	ENST00000441493	Transcript	missense_variant	1021/9445	668/6009	223/2002	D/G	gAt/gGt		1		-1	MICAL3	HGNC	HGNC:24694	protein_coding	YES	CCDS46659.1	ENSP00000416015	Q7RTP6		UPI0001823FDE	NM_015241.2	deleterious(0.02)		5/32		hmmpanther:PTHR11915:SF239,hmmpanther:PTHR11915,Gene3D:3.50.50.60,Superfamily_domains:SSF51905,Prints_domain:PR00420																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	47	17901901	17901901	T	C	1	0	0	0	0	1	0	0	0	9528	1435	50	5		5	MICAL3	22	17901901	Missense_Mutation	SNP	T	C3N-00433_TP		17901901	32916567	149	14933											
MYH9	0	.	GRCh38	chr22	36285275	36285275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctgctgccgagcattctCgttcttctgggcgtggctgc	3	12	13	13	3	3	0	0	0	3	0	4	1	3	0	1	2	5	5	1	2	0	3	rs758825898		C3N-00433_TP	C3N-00433_NB	C	C																c.5329G>A	p.Glu1777Lys	p.E1777K	ENST00000216181	38/41	602	566	36	334	334	0	strelka-varscan-mutect	MYH9,missense_variant,p.Glu1777Lys,ENST00000216181,NM_002473.5;MIR6819,downstream_gene_variant,,ENST00000622122,;MYH9,non_coding_transcript_exon_variant,,ENST00000475726,;MYH9,non_coding_transcript_exon_variant,,ENST00000486218,;	T	ENST00000216181	Transcript	missense_variant	5560/7501	5329/5883	1777/1960	E/K	Gag/Aag	rs758825898,COSM1258485	1		-1	MYH9	HGNC	HGNC:7579	protein_coding	YES	CCDS13927.1	ENSP00000216181	P35579	A0A024R1N1	UPI000012FB80	NM_002473.5	deleterious(0)		38/41		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF317,Superfamily_domains:SSF48097											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs758825898	.												T	3	4	47	36285275	36285275	C	T	1	0	0	0	0	1	0	0	0	10042	893	31	1		1	MYH9	22	36285275	Missense_Mutation	SNP	C	C3N-00433_TP	18383374	36285275	14533193	150	14934											
CBX6	0	.	GRCh38	chr22	38866234	38866234	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctcgccccaatgctgccaCcgcccccagcggcgcctgct	4	6	10	21	4	0	0	0	0	0	0	1	0	0	0	7	1	5	3	7	1	1	0	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.1214G>T	p.Gly405Val	p.G405V	ENST00000407418	5/5	141	133	8	81	81	0	strelka-varscan-mutect	CBX6,missense_variant,p.Gly405Val,ENST00000407418,NM_014292.4;CBX6,missense_variant,p.Gly387Val,ENST00000216083,NM_001303494.1;CBX6,downstream_gene_variant,,ENST00000469420,;	A	ENST00000407418	Transcript	missense_variant	1338/6122	1214/1239	405/412	G/V	gGt/gTt		1		-1	CBX6	HGNC	HGNC:1556	protein_coding	YES	CCDS13980.1	ENSP00000384490	O95503		UPI00001271FD	NM_014292.4	tolerated_low_confidence(0.29)		5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR22812,hmmpanther:PTHR22812:SF8																	MODERATE	1	SNV	1			1										PASS		rs1373500194	.												A	3	1	47	38866234	38866234	C	A	1	0	0	0	0	1	0	0	0	2422	507	18	2		2	CBX6	22	38866234	Missense_Mutation	SNP	C	C3N-00433_TP	2580959	38866234	11952234	151	14935											
PLXNB2	0	.	GRCh38	chr22	50289828	50289828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaggagtagtagttggggtCttctctgcacatgcgtgcca	7	12	14	8	1	2	0	0	0	2	0	3	1	2	1	1	3	3	5	1	3	3	5	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.757G>A	p.Asp253Asn	p.D253N	ENST00000449103	3/37	362	341	21	217	217	0	strelka-varscan-mutect	PLXNB2,missense_variant,p.Asp253Asn,ENST00000449103,;PLXNB2,missense_variant,p.Asp253Asn,ENST00000359337,NM_012401.3;PLXNB2,missense_variant,p.Asp253Asn,ENST00000432455,;PLXNB2,upstream_gene_variant,,ENST00000411680,;PLXNB2,downstream_gene_variant,,ENST00000425954,;PLXNB2,upstream_gene_variant,,ENST00000434732,;PLXNB2,upstream_gene_variant,,ENST00000496720,;	T	ENST00000449103	Transcript	missense_variant	898/6383	757/5517	253/1838	D/N	Gac/Aac		1		-1	PLXNB2	HGNC	HGNC:9104	protein_coding	YES	CCDS43035.1	ENSP00000409171	O15031		UPI000003812D		deleterious(0)		3/37		PROSITE_profiles:PS51004,hmmpanther:PTHR22625:SF9,hmmpanther:PTHR22625,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	47	50289828	50289828	C	T	1	0	0	0	0	1	0	0	0	12230	913	32	3		3	PLXNB2	22	50289828	Missense_Mutation	SNP	C	C3N-00433_TP	11423594	50289828	528640	152	14936											
ARSH	0	.	GRCh38	chrX	3024108	3024108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caacgggggccacctggagcCcctggacggggctgttcagc	6	5	16	14	2	1	0	1	0	0	0	1	2	1	2	4	6	3	2	4	6	1	1	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.989C>T	p.Pro330Leu	p.P330L	ENST00000381130	6/9	111	95	16	69	69	0	strelka-varscan-mutect	ARSH,missense_variant,p.Pro330Leu,ENST00000381130,NM_001011719.1;	T	ENST00000381130	Transcript	missense_variant	989/1875	989/1689	330/562	P/L	cCc/cTc		1		1	ARSH	HGNC	HGNC:32488	protein_coding	YES	CCDS35198.1	ENSP00000370522	Q5FYA8		UPI00001D7C2E	NM_001011719.1	tolerated(0.18)		6/9		Gene3D:3.40.720.10,Pfam_domain:PF00884,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF240,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	3024108	3024108	C	T	1	0	0	0	0	1	0	0	0	1136	623	22	3		3	ARSH	23	3024108	Missense_Mutation	SNP	C	C3N-00433_TP		3024108	153016787	153	14937											
TLR7	0	.	GRCh38	chrX	12888065	12888065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatatctgtatctctctttCtcatggtgatgatgacagca	9	15	7	10	0	4	3	1	3	4	0	6	3	4	3	1	1	1	2	1	1	2	3	novel		C3N-00433_TP	C3N-00433_NB	C	C																c.2557C>T	p.Leu853Phe	p.L853F	ENST00000380659	3/3	98	87	11	83	82	1	strelka-varscan-mutect	TLR7,missense_variant,p.Leu853Phe,ENST00000380659,NM_016562.3;	T	ENST00000380659	Transcript	missense_variant	2696/5011	2557/3150	853/1049	L/F	Ctc/Ttc		1		1	TLR7	HGNC	HGNC:15631	protein_coding	YES	CCDS14151.1	ENSP00000370034	Q9NYK1	B2R9N9	UPI000004BAF6	NM_016562.3	tolerated(0.44)		3/3		hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF222,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	47	12888065	12888065	C	T	1	0	0	0	0	1	0	0	0	16402	913	32	3		3	TLR7	23	12888065	Missense_Mutation	SNP	C	C3N-00433_TP	9863957	12888065	143152830	154	14938											
EIF2S3	0	.	GRCh38	chrX	24068053	24068053	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaatcttttccaaaattgtAtcactttttgcggagcataa	12	15	5	9	1	2	0	1	0	1	0	3	1	3	1	2	1	2	2	2	1	5	7			C3N-00433_TP	C3N-00433_NB	A	A																c.957A>T	p.=	p.V319V	ENST00000253039	9/12	52	47	5	50	50	0	varscan-mutect	EIF2S3,synonymous_variant,p.=,ENST00000253039,NM_001415.3;EIF2S3,upstream_gene_variant,,ENST00000460032,;	T	ENST00000253039	Transcript	synonymous_variant	1210/2858	957/1419	319/472	V	gtA/gtT	COSM118616	1		1	EIF2S3	HGNC	HGNC:3267	protein_coding	YES	CCDS14210.1	ENSP00000253039	P41091		UPI0000163BD6	NM_001415.3			9/12		hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF164,Gene3D:2.40.30.10,Pfam_domain:PF03144,Superfamily_domains:SSF50447											1						LOW	1	SNV	1		1	1										PASS		rs983418794	.												T	2	4	47	24068053	24068053	A	T	1	0	0	0	0	0	0	0	1	4844	436	16	4		4	EIF2S3	23	24068053	Silent	SNP	A	C3N-00433_TP	11179988	24068053	131972842	155	14939											
DMD	0	.	GRCh38	chrX	32816484	32816484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacctatgactatggatgaGagcattcaaagccaggccat	13	10	9	9	0	1	2	1	2	0	1	1	4	1	3	3	2	3	1	3	2	4	4	rs747353479		C3N-00433_TP	C3N-00433_NB	G	G																c.514C>T	p.Leu172Phe	p.L172F	ENST00000357033	6/79	115	102	13	117	117	0	strelka-varscan-mutect	DMD,missense_variant,p.Leu172Phe,ENST00000357033,NM_000109.3,NM_004006.2;DMD,missense_variant,p.Leu168Phe,ENST00000378677,NM_004010.3,NM_004009.3;DMD,missense_variant,p.Leu172Phe,ENST00000620040,;DMD,missense_variant,p.Leu168Phe,ENST00000619831,;DMD,missense_variant,p.Leu164Phe,ENST00000288447,;DMD,intron_variant,,ENST00000447523,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,non_coding_transcript_exon_variant,,ENST00000480751,;DMD,intron_variant,,ENST00000488902,;	A	ENST00000357033	Transcript	missense_variant	721/13956	514/11058	172/3685	L/F	Ctc/Ttc	rs747353479	1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2	deleterious(0.01)		6/79		PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF261,hmmpanther:PTHR11915,Pfam_domain:PF00307,Gene3D:1.10.418.10,PIRSF_domain:PIRSF002341,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		rs747353479	.												A	3	1	47	32816484	32816484	G	A	1	0	0	0	0	1	0	0	0	4387	942	33	3		3	DMD	23	32816484	Missense_Mutation	SNP	G	C3N-00433_TP	8748431	32816484	123224411	156	14940											
KDM6A	0	.	GRCh38	chrX	45089851	45089851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgacctggagatttggtctgGataaatgcaggcactgttca	10	11	12	8	1	2	1	1	0	1	1	2	4	2	2	1	4	1	3	1	4	2	3	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.3657G>C	p.Trp1219Cys	p.W1219C	ENST00000377967	25/29	109	103	6	121	121	0	strelka-varscan-mutect	KDM6A,missense_variant,p.Trp1247Cys,ENST00000611820,NM_001291415.1;KDM6A,missense_variant,p.Trp1202Cys,ENST00000382899,NM_001291416.1;KDM6A,missense_variant,p.Trp1168Cys,ENST00000543216,;KDM6A,missense_variant,p.Trp1150Cys,ENST00000536777,NM_001291417.1,NM_001291418.1;KDM6A,missense_variant,p.Trp1219Cys,ENST00000377967,NM_021140.3;KDM6A,missense_variant,p.Trp862Cys,ENST00000433797,;KDM6A,missense_variant,p.Trp817Cys,ENST00000414389,NM_001291421.1;KDM6A,intron_variant,,ENST00000621147,;KDM6A,upstream_gene_variant,,ENST00000431196,;KDM6A,downstream_gene_variant,,ENST00000484732,;	C	ENST00000377967	Transcript	missense_variant	3698/5438	3657/4206	1219/1401	W/C	tgG/tgC		1		1	KDM6A	HGNC	HGNC:12637	protein_coding	YES	CCDS14265.1	ENSP00000367203	O15550		UPI000013DA92	NM_021140.3	deleterious(0)		25/29		PROSITE_profiles:PS51184,hmmpanther:PTHR14017:SF9,hmmpanther:PTHR14017,Pfam_domain:PF02373,SMART_domains:SM00558,Superfamily_domains:SSF51197																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	47	45089851	45089851	G	C	1	0	0	0	0	1	0	0	0	8055	1183	41	4		4	KDM6A	23	45089851	Missense_Mutation	SNP	G	C3N-00433_TP	12273367	45089851	110951044	157	14941											
BHLHB9	0	.	GRCh38	chrX	102749308	102749308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctccacatgtaaaaatgagGctggtactgatgcctggttc	10	11	11	9	0	0	2	0	2	0	0	2	2	1	2	2	3	2	5	2	3	4	3	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.313G>T	p.Ala105Ser	p.A105S	ENST00000372735	4/4	63	56	7	40	40	0	strelka-varscan-mutect	BHLHB9,missense_variant,p.Ala105Ser,ENST00000372735,;BHLHB9,missense_variant,p.Ala105Ser,ENST00000457056,NM_001142528.1,NM_001142527.1,NM_001142525.1,NM_001142526.1,NM_001142524.1;BHLHB9,missense_variant,p.Ala105Ser,ENST00000447531,NM_001142529.1;BHLHB9,missense_variant,p.Ala105Ser,ENST00000361229,NM_030639.2;BHLHB9,missense_variant,p.Ala105Ser,ENST00000448867,NM_001142530.1;BHLHB9,downstream_gene_variant,,ENST00000483294,;BHLHB9,downstream_gene_variant,,ENST00000486988,;	T	ENST00000372735	Transcript	missense_variant	898/5130	313/1644	105/547	A/S	Gct/Tct		1		1	BHLHB9	HGNC	HGNC:29353	protein_coding	YES	CCDS14502.1	ENSP00000361820	Q6PI77		UPI00001C1D50		tolerated(0.37)		4/4		hmmpanther:PTHR15712:SF18,hmmpanther:PTHR15712																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	47	102749308	102749308	G	T	1	0	0	0	0	1	0	0	0	1568	1203	42	2		2	BHLHB9	23	102749308	Missense_Mutation	SNP	G	C3N-00433_TP	57659457	102749308	53291587	158	14942											
ESX1	0	.	GRCh38	chrX	104250783	104250783	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcaggagcagcataataGgccccacccaagaacatgtc	15	4	10	12	0	0	2	0	0	0	2	1	3	0	3	3	2	4	3	3	2	4	2	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.666C>G	p.=	p.A222A	ENST00000372588	4/4	175	155	20	85	85	0	strelka-varscan-mutect	ESX1,synonymous_variant,p.=,ENST00000372588,NM_153448.3;	C	ENST00000372588	Transcript	synonymous_variant	750/1495	666/1221	222/406	A	gcC/gcG		1		-1	ESX1	HGNC	HGNC:14865	protein_coding	YES	CCDS14516.1	ENSP00000361669	Q8N693		UPI0000073D09	NM_153448.3			4/4		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	47	104250783	104250783	G	C	1	0	0	0	0	0	0	0	1	5125	987	35	4		4	ESX1	23	104250783	Silent	SNP	G	C3N-00433_TP	1501475	104250783	51790112	159	14943											
BCORL1	0	.	GRCh38	chrX	130013841	130013841	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccctccgtctgtgcccAtgcccactccaaccccatct	5	9	5	22	1	2	0	0	0	2	0	4	0	4	0	8	0	4	0	8	0	1	0	novel		C3N-00433_TP	C3N-00433_NB	A	A																c.1069A>T	p.Met357Leu	p.M357L	ENST00000540052	3/12	120	102	18	74	74	0	strelka-varscan-mutect	BCORL1,missense_variant,p.Met357Leu,ENST00000540052,NM_021946.4;BCORL1,missense_variant,p.Met357Leu,ENST00000218147,;BCORL1,upstream_gene_variant,,ENST00000456822,;BCORL1,upstream_gene_variant,,ENST00000441294,;BCORL1,downstream_gene_variant,,ENST00000488135,;	T	ENST00000540052	Transcript	missense_variant	1113/7127	1069/5136	357/1711	M/L	Atg/Ttg		1		1	BCORL1	HGNC	HGNC:25657	protein_coding	YES	CCDS14616.1	ENSP00000437775	Q5H9F3		UPI0001D3414A	NM_021946.4			3/12		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	47	130013841	130013841	A	T	1	0	0	0	0	1	0	0	0	1534	217	8	4		4	BCORL1	23	130013841	Missense_Mutation	SNP	A	C3N-00433_TP	25763058	130013841	26027054	160	14944											
NLGN4Y	0	.	GRCh38	chrY	14830149	14830149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaacctttacggctaccctGaagggaaagacactttgcgg	12	8	10	11	2	0	2	0	1	0	1	0	3	0	3	2	3	4	1	2	3	5	4	novel		C3N-00433_TP	C3N-00433_NB	G	G																c.1231G>A	p.Glu411Lys	p.E411K	ENST00000355905	5/6	191	177	14	171	171	0	varscan-mutect	NLGN4Y,missense_variant,p.Glu243Lys,ENST00000382872,NM_001206850.1;NLGN4Y,missense_variant,p.Glu468Lys,ENST00000382868,;NLGN4Y,missense_variant,p.Glu411Lys,ENST00000339174,;NLGN4Y,missense_variant,p.Glu411Lys,ENST00000355905,NM_014893.4;NLGN4Y,non_coding_transcript_exon_variant,,ENST00000476359,;	A	ENST00000355905	Transcript	missense_variant	1483/5167	1231/2451	411/816	E/K	Gaa/Aaa		1		1	NLGN4Y	HGNC	HGNC:15529	protein_coding	YES	CCDS14788.1	ENSP00000348169	Q8NFZ3	A0A024R9E7	UPI000004770C	NM_014893.4	deleterious(0.03)		5/6		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF260,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	47	14830149	14830149	G	A	1	0	0	0	0	1	0	0	0	10502	1291	45	3		3	NLGN4Y	24	14830149	Missense_Mutation	SNP	G	C3N-00433_TP		14830149	42397266	161	14945											
MMEL1	0	.	GRCh38	chr1	2612129	2612129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaaggcaaaggctacctCggggttttcgttttacaaag	11	10	13	7	2	0	0	0	0	0	0	2	1	0	1	1	5	2	4	1	5	5	5	rs776455070		C3N-00545_TP	C3N-00545_NB	C	C																c.230G>T	p.Arg77Leu	p.R77L	ENST00000378412	3/24	440	412	28	218	217	1	strelka-varscan-mutect	MMEL1,missense_variant,p.Arg77Leu,ENST00000378412,NM_033467.3;MMEL1,missense_variant,p.Arg77Leu,ENST00000502556,;MMEL1,missense_variant,p.Arg77Leu,ENST00000504800,;MMEL1,upstream_gene_variant,,ENST00000509374,;	A	ENST00000378412	Transcript	missense_variant,splice_region_variant	392/2849	230/2340	77/779	R/L	cGa/cTa	rs776455070	1		-1	MMEL1	HGNC	HGNC:14668	protein_coding	YES	CCDS30569.2	ENSP00000367668	Q495T6		UPI0000047596	NM_033467.3	tolerated(0.08)		3/24																			MODERATE	1	SNV	2			1										PASS		rs776455070	.												A	3	1	48	2612129	2612129	C	A	1	0	0	0	0	1	0	0	0	9609	898	31	1		1	MMEL1	1	2612129	Missense_Mutation	SNP	C	C3N-00545_TP		2612129	246344293	1	14946											
PRAMEF20	0	.	GRCh38	chr1	13418343	13418343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcacctgcctctttctatGggtcaagcagagggaaggtt	8	12	11	10	0	4	1	2	0	2	1	4	2	4	2	2	3	2	2	2	3	3	4	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.509G>T	p.Trp170Leu	p.W170L	ENST00000316412	3/4	841	797	44	587	587	0	strelka-varscan-mutect	PRAMEF20,missense_variant,p.Trp170Leu,ENST00000316412,NM_001099852.2;PRAMEF20,missense_variant,p.Trp170Leu,ENST00000602960,;	T	ENST00000316412	Transcript	missense_variant	608/1597	509/1428	170/475	W/L	tGg/tTg		1		1	PRAMEF20	HGNC	HGNC:25224	protein_coding	YES	CCDS41265.1	ENSP00000346275	Q5VT98		UPI0004423C14	NM_001099852.2	tolerated(0.08)		3/4		PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF19																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	48	13418343	13418343	G	T	1	0	0	0	0	1	0	0	0	12563	1357	47	2		2	PRAMEF20	1	13418343	Missense_Mutation	SNP	G	C3N-00545_TP	10806214	13418343	235538079	2	14947											
PADI3	0	.	GRCh38	chr1	17282924	17282924	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaatggctgctgctgcctgGaggagaaggtgcggtccctg	6	9	16	10	1	1	1	1	0	0	1	2	3	2	2	2	5	4	3	2	5	2	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1840G>T	p.Glu614Ter	p.E614*	ENST00000375460	16/16	439	404	35	229	229	0	strelka-varscan-mutect	PADI3,stop_gained,p.Glu614Ter,ENST00000375460,NM_016233.2;MIR3972,downstream_gene_variant,,ENST00000582732,;	T	ENST00000375460	Transcript	stop_gained	1880/3189	1840/1995	614/664	E/*	Gag/Tag		1		1	PADI3	HGNC	HGNC:18337	protein_coding	YES	CCDS179.1	ENSP00000364609	Q9ULW8		UPI000013D8A0	NM_016233.2			16/16		Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF10,Superfamily_domains:SSF55909																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	48	17282924	17282924	G	T	1	0	0	0	0	0	1	0	0	11457	1175	41	2		2	PADI3	1	17282924	Nonsense_Mutation	SNP	G	C3N-00545_TP	3864581	17282924	231673498	3	14948											
PADI4	0	.	GRCh38	chr1	17354599	17354599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggactggactcctttGggaacctggaagtgagcccc	8	9	13	11	0	1	1	1	1	0	0	2	5	2	5	4	4	2	0	4	4	2	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1222G>T	p.Gly408Trp	p.G408W	ENST00000375448	11/16	327	302	25	203	203	0	strelka-mutect	PADI4,missense_variant,p.Gly408Trp,ENST00000375448,NM_012387.2;PADI4,non_coding_transcript_exon_variant,,ENST00000487048,;PADI4,non_coding_transcript_exon_variant,,ENST00000467001,;	T	ENST00000375448	Transcript	missense_variant	1248/2267	1222/1992	408/663	G/W	Ggg/Tgg		1		1	PADI4	HGNC	HGNC:18368	protein_coding	YES	CCDS180.1	ENSP00000364597	Q9UM07		UPI000013DFF1	NM_012387.2	deleterious(0)		11/16		Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF3,Superfamily_domains:SSF55909																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	17354599	17354599	G	T	1	0	0	0	0	1	0	0	0	11458	1348	47	2		2	PADI4	1	17354599	Missense_Mutation	SNP	G	C3N-00545_TP	71675	17354599	231601823	4	14949											
RUNX3	0	.	GRCh38	chr1	24902360	24902360	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agaactggtaggagccagagGatgtcccgtagtagaggtgg	11	7	17	6	1	0	3	0	0	0	3	1	5	1	5	2	5	2	3	2	5	4	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1052C>G	p.Ser351Cys	p.S351C	ENST00000399916	6/6	530	472	58	288	288	0	strelka-varscan-mutect	RUNX3,missense_variant,p.Ser351Cys,ENST00000399916,NM_001320672.1,NM_001031680.2;RUNX3,missense_variant,p.Ser337Cys,ENST00000308873,NM_004350.2;RUNX3,missense_variant,p.Ser351Cys,ENST00000338888,;RUNX3,downstream_gene_variant,,ENST00000496967,;	C	ENST00000399916	Transcript	missense_variant	1491/4340	1052/1290	351/429	S/C	tCc/tGc		1		-1	RUNX3	HGNC	HGNC:10473	protein_coding	YES	CCDS30633.1	ENSP00000382800	Q13761	A0A024RAH4	UPI000002B2FF	NM_001320672.1,NM_001031680.2	deleterious(0)		6/6		hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF26,Pfam_domain:PF08504,Prints_domain:PR00967																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	48	24902360	24902360	G	C	1	0	0	0	0	1	0	0	0	14010	1174	41	4		4	RUNX3	1	24902360	Missense_Mutation	SNP	G	C3N-00545_TP	7547761	24902360	224054062	5	14950											
RCC1	0	.	GRCh38	chr1	28535969	28535969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgcctatttcacctttGccatctcccatgagggccac	6	12	9	14	0	2	1	1	1	1	0	3	1	2	1	5	2	2	0	5	2	1	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.853G>A	p.Ala285Thr	p.A285T	ENST00000373831	8/11	229	208	21	156	156	0	strelka-varscan-mutect	RCC1,missense_variant,p.Ala254Thr,ENST00000373833,;RCC1,missense_variant,p.Ala254Thr,ENST00000398958,NM_001048199.2;RCC1,missense_variant,p.Ala254Thr,ENST00000373832,NM_001269.4;RCC1,missense_variant,p.Ala285Thr,ENST00000373831,NM_001048195.2,NM_001048194.2;RCC1,missense_variant,p.Ala271Thr,ENST00000411533,;RCC1,missense_variant,p.Ala254Thr,ENST00000430407,;RCC1,missense_variant,p.Ala254Thr,ENST00000419074,;RCC1,downstream_gene_variant,,ENST00000434290,;RCC1,downstream_gene_variant,,ENST00000427469,;RCC1,downstream_gene_variant,,ENST00000486790,;RCC1,downstream_gene_variant,,ENST00000429051,;RCC1,upstream_gene_variant,,ENST00000478232,;	A	ENST00000373831	Transcript	missense_variant	914/1577	853/1359	285/452	A/T	Gcc/Acc		1		1	RCC1	HGNC	HGNC:1913	protein_coding	YES	CCDS41295.1	ENSP00000362937	P18754	A0A0S2Z404	UPI0000204066	NM_001048195.2,NM_001048194.2	deleterious(0.01)		8/11		Gene3D:2.130.10.30,Pfam_domain:PF00415,PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF179,Superfamily_domains:SSF50985																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	28535969	28535969	G	A	1	0	0	0	0	1	0	0	0	13342	1319	46	3		3	RCC1	1	28535969	Missense_Mutation	SNP	G	C3N-00545_TP	3633609	28535969	220420453	6	14951											
CSMD2	0	.	GRCh38	chr1	33625126	33625126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcactcgatctctggcgaccCctgcagggcatagccggagt	7	7	13	14	3	1	0	0	0	1	0	3	3	1	1	3	3	2	3	3	3	1	1	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.5425G>T	p.Gly1809Trp	p.G1809W	ENST00000373381	34/71	930	876	54	620	620	0	strelka-varscan-mutect	CSMD2,missense_variant,p.Gly1809Trp,ENST00000373381,NM_001281956.1;CSMD2,missense_variant,p.Gly1769Trp,ENST00000619121,;CSMD2,missense_variant,p.Gly1769Trp,ENST00000373388,NM_052896.4;CSMD2,missense_variant,p.Gly682Trp,ENST00000373380,;CSMD2,5_prime_UTR_variant,,ENST00000373377,;CSMD2,missense_variant,p.Gly1769Trp,ENST00000241312,;	A	ENST00000373381	Transcript	missense_variant	5602/13698	5425/10896	1809/3631	G/W	Ggg/Tgg		1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1	deleterious(0)		34/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	33625126	33625126	C	A	1	0	0	0	0	1	0	0	0	3746	623	22	2		2	CSMD2	1	33625126	Missense_Mutation	SNP	C	C3N-00545_TP	5089157	33625126	215331296	7	14952											
DLGAP3	0	.	GRCh38	chr1	34904813	34904813	+	Missense_Mutation	SNP	C	C	A																															cccattatagtcccgcttccCcggcgcctccagagagtggg																								novel		C3N-00545_TP	C3N-00545_NB	C	C																c.571G>T	p.Gly191Trp	p.G191W	ENST00000373347	3/12	609	556	53	390	389	1	strelka-varscan-mutect	DLGAP3,missense_variant,p.Gly191Trp,ENST00000373347,NM_001080418.2;DLGAP3,missense_variant,p.Gly191Trp,ENST00000235180,;DLGAP3,downstream_gene_variant,,ENST00000495979,;	A	ENST00000373347	Transcript	missense_variant	840/3856	571/2940	191/979	G/W	Ggg/Tgg		1		-1	DLGAP3	HGNC	HGNC:30368	protein_coding	YES	CCDS30670.1	ENSP00000362444	O95886		UPI00003D4D81	NM_001080418.2	deleterious(0)		3/12		hmmpanther:PTHR12353:SF4,hmmpanther:PTHR12353																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	48	34904813	34904813	C	A	1	0	0	0	0	1	0	0	0	4368	623	22	2		2	DLGAP3	1	34904813	Missense_Mutation	SNP	C	C3N-00545_TP	1279687	34904813	214051609	8	14953	321	2									
DLGAP3	0	.	GRCh38	chr1	34904814	34904814	+	Silent	SNP	C	C	A																															ccattatagtcccgcttcccCggcgcctccagagagtggga																								novel		C3N-00545_TP	C3N-00545_NB	C	C																c.570G>T	p.=	p.P190P	ENST00000373347	3/12	604	553	51	390	390	0	strelka-varscan-mutect	DLGAP3,synonymous_variant,p.=,ENST00000373347,NM_001080418.2;DLGAP3,synonymous_variant,p.=,ENST00000235180,;DLGAP3,downstream_gene_variant,,ENST00000495979,;	A	ENST00000373347	Transcript	synonymous_variant	839/3856	570/2940	190/979	P	ccG/ccT		1		-1	DLGAP3	HGNC	HGNC:30368	protein_coding	YES	CCDS30670.1	ENSP00000362444	O95886		UPI00003D4D81	NM_001080418.2			3/12		hmmpanther:PTHR12353:SF4,hmmpanther:PTHR12353																	LOW	1	SNV	5			1										PASS		rs919131002	.												A	2	1	48	34904814	34904814	C	A	1	0	0	0	0	0	0	0	1	4368	639	23	1		1	DLGAP3	1	34904814	Silent	SNP	C	C3N-00545_TP	1	34904814	214051608	9	14954	321	2									
DNALI1	0	.	GRCh38	chr1	37559445	37559445	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcagcagcggcaggccAgggaaacaggcatctgccct	10	4	14	13	1	1	0	0	0	1	0	1	1	1	1	2	4	6	5	2	4	1	0	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.412A>G	p.Arg138Gly	p.R138G	ENST00000296218	3/6	194	184	10	118	118	0	strelka-varscan-mutect	DNALI1,missense_variant,p.Arg138Gly,ENST00000296218,NM_003462.3;DNALI1,intron_variant,,ENST00000466723,;DNALI1,upstream_gene_variant,,ENST00000497858,;DNALI1,downstream_gene_variant,,ENST00000490312,;DNALI1,upstream_gene_variant,,ENST00000467277,;RP3-423B22.5,downstream_gene_variant,,ENST00000423216,;	G	ENST00000296218	Transcript	missense_variant	422/2649	412/843	138/280	R/G	Agg/Ggg		1		1	DNALI1	HGNC	HGNC:14353	protein_coding	YES	CCDS420.1	ENSP00000296218	O14645		UPI00001D6A0B	NM_003462.3	deleterious(0)		3/6		Pfam_domain:PF10211,hmmpanther:PTHR13183																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	48	37559445	37559445	A	G	1	0	0	0	0	1	0	0	0	4472	179	7	5		5	DNALI1	1	37559445	Missense_Mutation	SNP	A	C3N-00545_TP	2654631	37559445	211396977	10	14955											
PTPRF	0	.	GRCh38	chr1	43569649	43569649	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcctcagctgaaggtggtgGagaaggcacgcacagccacc	10	4	15	12	1	1	2	1	1	0	1	1	3	1	2	3	5	2	3	3	5	2	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.439G>T	p.Glu147Ter	p.E147*	ENST00000359947	6/34	156	137	19	104	104	0	strelka-mutect	PTPRF,stop_gained,p.Glu147Ter,ENST00000359947,NM_002840.3;PTPRF,stop_gained,p.Glu147Ter,ENST00000438120,NM_130440.2;PTPRF,stop_gained,p.Glu147Ter,ENST00000617451,;PTPRF,stop_gained,p.Glu147Ter,ENST00000437607,;PTPRF,non_coding_transcript_exon_variant,,ENST00000436724,;PTPRF,non_coding_transcript_exon_variant,,ENST00000372405,;	T	ENST00000359947	Transcript	stop_gained	779/7727	439/5724	147/1907	E/*	Gag/Tag		1		1	PTPRF	HGNC	HGNC:9670	protein_coding	YES	CCDS489.2	ENSP00000353030	P10586		UPI0000470154	NM_002840.3			6/34		PROSITE_profiles:PS50835,hmmpanther:PTHR19134:SF203,hmmpanther:PTHR19134,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	48	43569649	43569649	G	T	1	0	0	0	0	0	1	0	0	12955	1175	41	2		2	PTPRF	1	43569649	Nonsense_Mutation	SNP	G	C3N-00545_TP	6010204	43569649	205386773	11	14956											
BSND	0	.	GRCh38	chr1	55008229	55008229	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagccccctggcctgtccCcagggccctgcccccttggc	2	7	11	21	0	0	0	0	0	0	0	1	0	1	0	8	3	3	1	8	3	0	1	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.564C>A	p.=	p.P188P	ENST00000371265	4/4	381	358	23	213	212	1	strelka-varscan-mutect	BSND,synonymous_variant,p.=,ENST00000371265,NM_057176.2;	A	ENST00000371265	Transcript	synonymous_variant	818/3472	564/963	188/320	P	ccC/ccA		1		1	BSND	HGNC	HGNC:16512	protein_coding	YES	CCDS602.1	ENSP00000360312	Q8WZ55	Q5VU50	UPI000006DC8D	NM_057176.2			4/4		PD968187,Pfam_domain:PF15462,hmmpanther:PTHR28399,hmmpanther:PTHR28399:SF1																	LOW	1	SNV	1			1										PASS		rs1450154533	.												A	2	1	48	55008229	55008229	C	A	1	0	0	0	0	0	0	0	1	1705	610	22	2		2	BSND	1	55008229	Silent	SNP	C	C3N-00545_TP	11438580	55008229	193948193	12	14957											
PRKAA2	0	.	GRCh38	chr1	56704001	56704001	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttaaacaagatttgccCagttacttatttcctgaaga	12	15	7	7	0	0	3	0	1	0	2	1	3	1	3	2	1	3	2	2	1	6	6	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.819C>A	p.=	p.P273P	ENST00000371244	7/9	90	80	10	25	25	0	strelka-mutect	PRKAA2,synonymous_variant,p.=,ENST00000371244,NM_006252.3;PRKAA2,synonymous_variant,p.=,ENST00000610361,;	A	ENST00000371244	Transcript	synonymous_variant	885/9347	819/1659	273/552	P	ccC/ccA		1		1	PRKAA2	HGNC	HGNC:9377	protein_coding	YES	CCDS605.1	ENSP00000360290	P54646		UPI00001250A9	NM_006252.3			7/9		hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF193																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	48	56704001	56704001	C	A	1	0	0	0	0	0	0	0	1	12627	581	21	2		2	PRKAA2	1	56704001	Silent	SNP	C	C3N-00545_TP	1695772	56704001	192252421	13	14958											
KANK4	0	.	GRCh38	chr1	62273853	62273853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcaagagtccatggacaggGtcagtgttcaccatcacgtc	10	9	11	11	1	4	1	4	0	0	1	6	2	5	2	2	2	0	1	2	2	1	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1251C>A	p.Asp417Glu	p.D417E	ENST00000371153	3/10	563	509	54	295	294	1	strelka-varscan-mutect	KANK4,missense_variant,p.Asp417Glu,ENST00000371153,NM_181712.4;KANK4,intron_variant,,ENST00000354381,;KANK4,upstream_gene_variant,,ENST00000371150,;	T	ENST00000371153	Transcript	missense_variant	1630/4665	1251/2988	417/995	D/E	gaC/gaA		1		-1	KANK4	HGNC	HGNC:27263	protein_coding	YES	CCDS620.1	ENSP00000360195	Q5T7N3		UPI000022AE73	NM_181712.4	tolerated(0.72)		3/10		hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	62273853	62273853	G	T	1	0	0	0	0	1	0	0	0	7888	1252	44	2		2	KANK4	1	62273853	Missense_Mutation	SNP	G	C3N-00545_TP	5569852	62273853	186682569	14	14959											
LRRC7	0	.	GRCh38	chr1	69678404	69678404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacctaataaggggaaGgaatcccccgcaataccaga	16	4	11	10	1	0	2	0	0	0	2	1	5	1	4	4	4	2	1	4	4	7	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.26G>A	p.Arg9Lys	p.R9K	ENST00000370958	2/8	218	203	15	106	106	0	strelka-varscan-mutect	LRRC7,missense_variant,p.Arg9Lys,ENST00000370958,;LRRC7,5_prime_UTR_variant,,ENST00000310961,;	A	ENST00000370958	Transcript	missense_variant	216/2375	26/654	9/217	R/K	aGg/aAg		1		1	LRRC7	HGNC	HGNC:18531	protein_coding			ENSP00000359997		B1AKT2	UPI000018DB0D		deleterious_low_confidence(0)		2/8																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	69678404	69678404	G	A	1	0	0	0	0	1	0	0	0	8916	1000	35	3		3	LRRC7	1	69678404	Missense_Mutation	SNP	G	C3N-00545_TP	7404551	69678404	179278018	15	14960											
BTBD8	0	.	GRCh38	chr1	92184246	92184246	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacttgattcctcagcGagcatcaccatggctagttt	8	13	7	13	1	3	1	2	1	1	0	5	2	4	1	3	1	2	3	3	1	1	4	rs773320884		C3N-00545_TP	C3N-00545_NB	G	G																c.3981G>T	p.=	p.A1327A	ENST00000636278	8/8	235	212	23	56	56	0	strelka-mutect	BTBD8,synonymous_variant,p.=,ENST00000636805,;BTBD8,synonymous_variant,p.=,ENST00000370378,;BTBD8,synonymous_variant,p.=,ENST00000637221,;KIAA1107,synonymous_variant,p.=,ENST00000636278,NM_015237.2;RP4-621B10.8,upstream_gene_variant,,ENST00000609675,;BTBD8,3_prime_UTR_variant,,ENST00000635934,;	T	ENST00000636278	Transcript	synonymous_variant	3981/4065	3981/4065	1327/1354	A	gcG/gcT	rs773320884	1		1	KIAA1107	HGNC	HGNC:29192	protein_coding	YES	CCDS44172.1	ENSP00000489882			UPI00017C1449	NM_015237.2			8/8		Pfam_domain:PF15363,hmmpanther:PTHR22427,hmmpanther:PTHR22427:SF2,Low_complexity_(Seg):seg																	LOW		SNV				1										PASS		rs773320884	.												T	2	4	48	92184246	92184246	G	T	1	0	0	0	0	0	0	0	1	1723	1045	37	1		1	BTBD8	1	92184246	Silent	SNP	G	C3N-00545_TP	22505842	92184246	156772176	16	14961											
PLPPR4	0	.	GRCh38	chr1	99301879	99301879	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctttttaataggaggAggaattgcactgtacttggt	9	15	13	4	0	0	0	0	0	0	0	0	3	0	3	0	5	2	3	0	5	4	7			C3N-00545_TP	C3N-00545_NB	A	A																c.948A>T	p.=	p.G316G	ENST00000370185	6/7	106	92	14	18	18	0	strelka-mutect	PLPPR4,synonymous_variant,p.=,ENST00000370185,NM_014839.4;PLPPR4,synonymous_variant,p.=,ENST00000370184,;PLPPR4,intron_variant,,ENST00000457765,NM_001166252.1;	T	ENST00000370185	Transcript	synonymous_variant	1445/5369	948/2292	316/763	G	ggA/ggT	COSM2261525,COSM4055010	1		1	PLPPR4	HGNC	HGNC:23496	protein_coding	YES	CCDS757.1	ENSP00000359204	Q7Z2D5		UPI0000161229	NM_014839.4			6/7		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10165:SF13,hmmpanther:PTHR10165,Pfam_domain:PF01569,Gene3D:1.20.144.10,SMART_domains:SM00014,Superfamily_domains:SSF48317											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	48	99301879	99301879	A	T	1	0	0	0	0	0	0	0	1	12212	291	11	4		4	PLPPR4	1	99301879	Silent	SNP	A	C3N-00545_TP	7117633	99301879	149654543	17	14962											
COL11A1	0	.	GRCh38	chr1	103018817	103018817	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcttaaaacatttacataCtgcaggtcctgctggtcctg	11	13	7	10	0	1	0	0	0	1	0	3	0	3	0	2	2	5	2	2	2	5	4			C3N-00545_TP	C3N-00545_NB	C	C																c.1350+1G>T		p.X450_splice	ENST00000370096		247	214	33	81	81	0	strelka-varscan-mutect	COL11A1,splice_donor_variant,,ENST00000358392,NM_080629.2;COL11A1,splice_donor_variant,,ENST00000370096,NM_001854.3;COL11A1,splice_donor_variant,,ENST00000353414,NM_001190709.1;COL11A1,splice_donor_variant,,ENST00000512756,NM_080630.3;COL11A1,splice_donor_variant,,ENST00000427239,;COL11A1,splice_donor_variant,,ENST00000635193,;	A	ENST00000370096	Transcript	splice_donor_variant	-/7286	1350/5421	450/1806			COSM243778	1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3				10/66												1						HIGH	1	SNV	1		1	1										PASS		.	.												A	5	1	48	103018817	103018817	C	A	1	0	0	0	0	0	0	1	0	3455	579	20	2		2	COL11A1	1	103018817	Splice_Site	SNP	C	C3N-00545_TP	3716938	103018817	145937605	18	14963											
ATXN7L2	0	.	GRCh38	chr1	109491049	109491049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagacctgcctgcccaGcctccatgccccccaccaag	7	5	7	22	0	0	1	0	1	0	1	1	2	1	1	10	0	4	0	10	0	1	0	rs754601774		C3N-00545_TP	C3N-00545_NB	G	G																c.1486G>T	p.Ala496Ser	p.A496S	ENST00000369870	10/11	272	241	31	122	122	0	strelka-varscan-mutect	ATXN7L2,missense_variant,p.Ala496Ser,ENST00000369870,NM_153340.4;CYB561D1,upstream_gene_variant,,ENST00000430195,NM_001134404.1;CYB561D1,upstream_gene_variant,,ENST00000310611,NM_001134403.1;CYB561D1,upstream_gene_variant,,ENST00000496961,;CYB561D1,upstream_gene_variant,,ENST00000420578,NM_182580.2;CYB561D1,upstream_gene_variant,,ENST00000528785,;CYB561D1,upstream_gene_variant,,ENST00000369868,NM_001134400.1;CYB561D1,upstream_gene_variant,,ENST00000533024,;CYB561D1,upstream_gene_variant,,ENST00000527072,;CYB561D1,upstream_gene_variant,,ENST00000393709,NM_001134402.1;ATXN7L2,non_coding_transcript_exon_variant,,ENST00000459635,;ATXN7L2,downstream_gene_variant,,ENST00000604728,;ATXN7L2,3_prime_UTR_variant,,ENST00000463678,;ATXN7L2,non_coding_transcript_exon_variant,,ENST00000497545,;ATXN7L2,non_coding_transcript_exon_variant,,ENST00000369869,;	T	ENST00000369870	Transcript	missense_variant	1501/2318	1486/2169	496/722	A/S	Gcc/Tcc	rs754601774	1		1	ATXN7L2	HGNC	HGNC:28713	protein_coding	YES	CCDS30794.1	ENSP00000358886	Q5T6C5		UPI0000470BE5	NM_153340.4	tolerated(0.67)		10/11		hmmpanther:PTHR15117:SF5,hmmpanther:PTHR15117																	MODERATE	1	SNV	1			1										PASS		rs754601774	.												T	3	4	48	109491049	109491049	G	T	1	0	0	0	0	1	0	0	0	1371	971	34	2		2	ATXN7L2	1	109491049	Missense_Mutation	SNP	G	C3N-00545_TP	6472232	109491049	139465373	19	14964											
SF3B4	0	.	GRCh38	chr1	149926459	149926459	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatctgcaaacagctgaTgagggcgatcagcctgggag	10	7	15	9	1	2	2	1	2	1	0	2	4	2	3	1	2	5	3	1	2	1	0	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.623A>T	p.His208Leu	p.H208L	ENST00000271628	3/6	427	393	34	231	230	1	strelka-varscan-mutect	SF3B4,missense_variant,p.His208Leu,ENST00000271628,NM_005850.4;SF3B4,missense_variant,p.His165Leu,ENST00000457312,;MTMR11,downstream_gene_variant,,ENST00000439741,NM_001145862.1;MTMR11,downstream_gene_variant,,ENST00000369140,NM_181873.3;MTMR11,downstream_gene_variant,,ENST00000492824,;MTMR11,downstream_gene_variant,,ENST00000482025,;MTMR11,downstream_gene_variant,,ENST00000466496,;MTMR11,downstream_gene_variant,,ENST00000490310,;MTMR11,downstream_gene_variant,,ENST00000495054,;MTMR11,downstream_gene_variant,,ENST00000493562,;MTMR11,downstream_gene_variant,,ENST00000482343,;	A	ENST00000271628	Transcript	missense_variant	1208/2085	623/1275	208/424	H/L	cAt/cTt		1		-1	SF3B4	HGNC	HGNC:10771	protein_coding	YES	CCDS72900.1	ENSP00000271628	Q15427		UPI0000135472	NM_005850.4	deleterious(0.04)		3/6																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	149926459	149926459	T	A	1	0	0	0	0	1	0	0	0	14431	1464	51	4		4	SF3B4	1	149926459	Missense_Mutation	SNP	T	C3N-00545_TP	40435410	149926459	99029963	20	14965											
THEM4	0	.	GRCh38	chr1	151889219	151889219	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatcattcttacccaggTggtccttccaggtaagggcc	7	11	11	12	0	2	0	1	0	1	0	4	0	4	0	4	5	1	2	4	5	3	5	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.441A>G	p.=	p.P147P	ENST00000368814	3/6	190	156	34	54	54	0	strelka-varscan-mutect	THEM4,synonymous_variant,p.=,ENST00000368814,NM_053055.4;THEM4,non_coding_transcript_exon_variant,,ENST00000477437,;THEM4,3_prime_UTR_variant,,ENST00000471464,;THEM4,non_coding_transcript_exon_variant,,ENST00000483207,;	C	ENST00000368814	Transcript	synonymous_variant	791/2377	441/723	147/240	P	ccA/ccG		1		-1	THEM4	HGNC	HGNC:17947	protein_coding	YES	CCDS1006.1	ENSP00000357804	Q5T1C6		UPI000045625A	NM_053055.4			3/6		Gene3D:3.10.129.10,hmmpanther:PTHR12418,hmmpanther:PTHR12418:SF19,Superfamily_domains:SSF54637																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	48	151889219	151889219	T	C	1	0	0	0	0	0	0	0	1	16291	1710	59	5		5	THEM4	1	151889219	Silent	SNP	T	C3N-00545_TP	1962760	151889219	97067203	21	14966											
IQGAP3	0	.	GRCh38	chr1	156544447	156544447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accactccaggtaaatcttcCgctgcctataaccccgccaa	11	8	5	17	2	1	0	0	0	1	0	3	0	3	0	7	1	2	2	7	1	5	4	rs369096813		C3N-00545_TP	C3N-00545_NB	C	C																c.2330G>T	p.Arg777Leu	p.R777L	ENST00000361170	20/38	556	485	71	270	270	0	strelka-varscan-mutect	IQGAP3,missense_variant,p.Arg777Leu,ENST00000361170,NM_178229.4;IQGAP3,upstream_gene_variant,,ENST00000498755,;IQGAP3,missense_variant,p.Arg734Leu,ENST00000491900,;	A	ENST00000361170	Transcript	missense_variant	2341/5988	2330/4896	777/1631	R/L	cGg/cTg	rs369096813	1		-1	IQGAP3	HGNC	HGNC:20669	protein_coding	YES	CCDS1144.1	ENSP00000354451	Q86VI3		UPI000046FFDD	NM_178229.4	deleterious(0)		20/38		PROSITE_profiles:PS50096,hmmpanther:PTHR14149:SF10,hmmpanther:PTHR14149,Pfam_domain:PF00612,SMART_domains:SM00015																	MODERATE	1	SNV	1			1										PASS		rs369096813	.												A	3	1	48	156544447	156544447	C	A	1	0	0	0	0	1	0	0	0	7722	652	23	1		1	IQGAP3	1	156544447	Missense_Mutation	SNP	C	C3N-00545_TP	4655228	156544447	92411975	22	14967											
OR6K3	0	.	GRCh38	chr1	158717728	158717728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgatcatttgatagcgaaGagggttgcagatggcaacgt	12	10	13	6	2	1	4	1	2	0	2	1	5	1	4	0	2	3	3	0	2	3	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.388C>T	p.Leu130Phe	p.L130F	ENST00000368145	1/1	421	383	38	210	210	0	strelka-varscan-mutect	OR6K3,missense_variant,p.Leu146Phe,ENST00000368146,;OR6K3,missense_variant,p.Leu130Phe,ENST00000368145,NM_001005327.2;	A	ENST00000368145	Transcript	missense_variant	388/948	388/948	130/315	L/F	Ctt/Ttt		1		-1	OR6K3	HGNC	HGNC:15030	protein_coding	YES	CCDS30903.2	ENSP00000357127		A0A0C4DFU5	UPI0000061E5F	NM_001005327.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF35,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	48	158717728	158717728	G	A	1	0	0	0	0	1	0	0	0	11272	942	33	3		3	OR6K3	1	158717728	Missense_Mutation	SNP	G	C3N-00545_TP	2173281	158717728	90238694	23	14968											
APCS	0	.	GRCh38	chr1	159588590	159588590	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggactctgtgctgccccCagaaaatatcctgtctgcct	7	11	10	13	0	2	1	0	0	2	1	3	2	3	2	4	1	3	1	4	1	3	1	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.554C>A	p.Pro185Gln	p.P185Q	ENST00000255040	2/2	409	387	22	265	265	0	strelka-varscan-mutect	APCS,missense_variant,p.Pro185Gln,ENST00000255040,NM_001639.3;	A	ENST00000255040	Transcript	missense_variant	651/926	554/672	185/223	P/Q	cCa/cAa		1		1	APCS	HGNC	HGNC:584	protein_coding	YES	CCDS1186.1	ENSP00000255040	P02743	V9HWP0	UPI0000135533	NM_001639.3	deleterious(0.05)		2/2		hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF99,Pfam_domain:PF00354,Gene3D:2.60.120.200,SMART_domains:SM00159,Superfamily_domains:SSF49899,Prints_domain:PR00895																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	159588590	159588590	C	A	1	0	0	0	0	1	0	0	0	887	594	21	2		2	APCS	1	159588590	Missense_Mutation	SNP	C	C3N-00545_TP	870862	159588590	89367832	24	14969											
C1orf204	0	.	GRCh38	chr1	159841186	159841186	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaggtgtggaggaagccCaggatgtgcacagctgtggg	10	6	18	7	0	0	0	0	0	0	0	0	4	0	3	1	5	3	2	1	5	2	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.382G>T	p.Gly128Trp	p.G128W	ENST00000368102	3/6	476	418	58	247	247	0	strelka-varscan-mutect	C1orf204,missense_variant,p.Gly128Trp,ENST00000368102,NM_001134233.1;C1orf204,missense_variant,p.Gly128Trp,ENST00000621242,;SLAMF8,downstream_gene_variant,,ENST00000289707,NM_020125.2;C1orf204,intron_variant,,ENST00000491974,;SLAMF8,downstream_gene_variant,,ENST00000471286,;SLAMF8,downstream_gene_variant,,ENST00000497141,;	A	ENST00000368102	Transcript	missense_variant	492/2501	382/708	128/235	G/W	Ggg/Tgg		1		-1	C1orf204	HGNC	HGNC:27647	protein_coding	YES	CCDS44253.1	ENSP00000357082	Q5VU13		UPI0000204B64	NM_001134233.1	deleterious_low_confidence(0.01)		3/6																			MODERATE		SNV	2			1										PASS		.	.												A	3	1	48	159841186	159841186	C	A	1	0	0	0	0	1	0	0	0	1980	594	21	2		2	C1orf204	1	159841186	Missense_Mutation	SNP	C	C3N-00545_TP	252596	159841186	89115236	25	14970											
ATP1A2	0	.	GRCh38	chr1	160135454	160135454	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagccattgtggccgtgacGggtgacggggtgaacgactc	7	7	18	9	4	0	3	0	3	0	0	1	5	0	4	2	5	2	0	2	5	1	1	rs760213030		C3N-00545_TP	C3N-00545_NB	G	G																c.2136G>T	p.=	p.T712T	ENST00000361216	16/23	427	403	24	264	264	0	strelka-varscan-mutect	ATP1A2,synonymous_variant,p.=,ENST00000361216,NM_000702.3;ATP1A2,synonymous_variant,p.=,ENST00000447527,;ATP1A2,synonymous_variant,p.=,ENST00000392233,;ATP1A2,upstream_gene_variant,,ENST00000459972,;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,;ATP1A2,upstream_gene_variant,,ENST00000463989,;	T	ENST00000361216	Transcript	synonymous_variant	2225/5421	2136/3063	712/1020	T	acG/acT	rs760213030	1		1	ATP1A2	HGNC	HGNC:800	protein_coding	YES	CCDS1196.1	ENSP00000354490	P50993	A0A0S2Z3W6	UPI0000124FC1	NM_000702.3			16/23		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF259,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01106,Gene3D:1.20.1110.10,Superfamily_domains:SSF56784,Prints_domain:PR00119																	LOW	1	SNV	1			1										PASS		rs760213030	.												T	2	4	48	160135454	160135454	G	T	1	0	0	0	0	0	0	0	1	1281	1103	39	1		1	ATP1A2	1	160135454	Silent	SNP	G	C3N-00545_TP	294268	160135454	88820968	26	14971											
ITLN2	0	.	GRCh38	chr1	160951164	160951164	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccagcgatcacccaccGtgcacttcccacgcatgtca	9	7	8	17	3	2	0	2	0	0	0	3	2	3	1	4	1	2	2	4	1	0	1	rs752153641		C3N-00545_TP	C3N-00545_NB	G	G																c.320C>G	p.Thr107Arg	p.T107R	ENST00000368029	4/8	386	347	39	218	218	0	strelka-varscan-mutect	ITLN2,missense_variant,p.Thr107Arg,ENST00000368029,NM_080878.2;RP11-544M22.1,downstream_gene_variant,,ENST00000356006,;ITLN2,non_coding_transcript_exon_variant,,ENST00000490489,;ITLN2,upstream_gene_variant,,ENST00000494442,;	C	ENST00000368029	Transcript	missense_variant	378/1151	320/978	107/325	T/R	aCg/aGg	rs752153641,COSM3705179	1		-1	ITLN2	HGNC	HGNC:20599	protein_coding	YES	CCDS1212.1	ENSP00000357008	Q8WWU7		UPI0000048F3E	NM_080878.2	deleterious(0)		4/8		hmmpanther:PTHR16146:SF21,hmmpanther:PTHR16146,Gene3D:3.90.215.10,Superfamily_domains:SSF56496											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs752153641	.												C	3	2	48	160951164	160951164	G	C	1	0	0	0	0	1	0	0	0	7817	1145	40	4		4	ITLN2	1	160951164	Missense_Mutation	SNP	G	C3N-00545_TP	815710	160951164	88005258	27	14972											
FCRLA	0	.	GRCh38	chr1	161711268	161711268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggacctgctggttctgcGctgccaggcctggcaagact	6	8	15	12	1	1	1	0	0	1	1	1	2	1	2	3	5	3	4	3	5	1	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.362G>T	p.Arg121Leu	p.R121L	ENST00000367959	4/6	380	348	32	272	272	0	strelka-varscan-mutect	FCRLA,missense_variant,p.Arg121Leu,ENST00000367959,NM_001184866.1;FCRLA,missense_variant,p.Arg115Leu,ENST00000236938,NM_032738.3;FCRLA,missense_variant,p.Arg104Leu,ENST00000367953,;FCRLA,missense_variant,p.Arg98Leu,ENST00000349527,;FCRLA,intron_variant,,ENST00000546024,NM_001184867.1;FCRLA,intron_variant,,ENST00000540521,NM_001184870.1;FCRLA,intron_variant,,ENST00000367949,NM_001184873.1;FCRLA,intron_variant,,ENST00000367957,NM_001184872.1;FCRLA,intron_variant,,ENST00000350710,NM_001184871.1;FCRLA,intron_variant,,ENST00000309691,;FCRLA,intron_variant,,ENST00000367950,;FCRLA,intron_variant,,ENST00000294796,;FCRLA,non_coding_transcript_exon_variant,,ENST00000470841,;FCRLA,non_coding_transcript_exon_variant,,ENST00000465403,;	T	ENST00000367959	Transcript	missense_variant	604/2362	362/1149	121/382	R/L	cGc/cTc		1		1	FCRLA	HGNC	HGNC:18504	protein_coding	YES	CCDS53415.1	ENSP00000356936	Q7L513		UPI0001D3957E	NM_001184866.1	deleterious(0)		4/6		PROSITE_profiles:PS50835,hmmpanther:PTHR11481,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1382394086	.												T	3	4	48	161711268	161711268	G	T	1	0	0	0	0	1	0	0	0	5662	1087	38	1		1	FCRLA	1	161711268	Missense_Mutation	SNP	G	C3N-00545_TP	760104	161711268	87245154	28	14973											
LMX1A	0	.	GRCh38	chr1	165208090	165208090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctctgggtgttctgctGatcttgctgctgctgctgct	2	15	12	12	0	3	1	0	1	3	0	3	1	3	1	1	1	7	7	1	1	0	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.790C>A	p.Gln264Lys	p.Q264K	ENST00000342310	7/9	262	220	42	112	112	0	strelka-varscan-mutect	LMX1A,missense_variant,p.Gln264Lys,ENST00000342310,NM_177398.3;LMX1A,missense_variant,p.Gln264Lys,ENST00000294816,NM_001174069.1;LMX1A,missense_variant,p.Gln264Lys,ENST00000367893,;RP11-38C18.2,upstream_gene_variant,,ENST00000457106,;LMX1A,non_coding_transcript_exon_variant,,ENST00000489443,;	T	ENST00000342310	Transcript	missense_variant	1173/3545	790/1149	264/382	Q/K	Cag/Aag		1		-1	LMX1A	HGNC	HGNC:6653	protein_coding	YES	CCDS1247.1	ENSP00000340226	Q8TE12		UPI000012E793	NM_177398.3	tolerated(0.08)		7/9		Low_complexity_(Seg):seg,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF88																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	48	165208090	165208090	G	T	1	0	0	0	0	1	0	0	0	8788	1299	45	2		2	LMX1A	1	165208090	Missense_Mutation	SNP	G	C3N-00545_TP	3496822	165208090	83748332	29	14974											
ALDH9A1	0	.	GRCh38	chr1	165679546	165679546	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgcctccaagttccaaggTaacaggtttgattcctttag	9	15	8	9	0	0	1	0	1	0	0	3	1	3	1	4	2	2	3	4	2	4	7	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.826A>T	p.Thr276Ser	p.T276S	ENST00000354775	6/11	341	320	21	151	151	0	strelka-varscan-mutect	ALDH9A1,missense_variant,p.Thr276Ser,ENST00000354775,NM_000696.3;ALDH9A1,non_coding_transcript_exon_variant,,ENST00000491436,;ALDH9A1,downstream_gene_variant,,ENST00000461664,;ALDH9A1,downstream_gene_variant,,ENST00000471457,;RP11-466F5.4,downstream_gene_variant,,ENST00000437709,;	A	ENST00000354775	Transcript	missense_variant	1131/2696	826/1557	276/518	T/S	Acc/Tcc		1		-1	ALDH9A1	HGNC	HGNC:412	protein_coding	YES	CCDS1250.2	ENSP00000346827	P49189	B9EKV4	UPI00003E07DD	NM_000696.3	deleterious(0.02)		6/11		hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF208,Pfam_domain:PF00171,Gene3D:3.40.605.10,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	165679546	165679546	T	A	1	0	0	0	0	1	0	0	0	606	1638	57	4		4	ALDH9A1	1	165679546	Missense_Mutation	SNP	T	C3N-00545_TP	471456	165679546	83276876	30	14975											
ILDR2	0	.	GRCh38	chr1	166936709	166936709	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaagaagaggaagacgccCaggagcaccaggccaacaaa	18	0	12	11	2	0	3	0	0	0	3	0	6	0	5	3	3	2	1	3	3	5	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.585G>C	p.=	p.L195L	ENST00000271417	5/10	413	346	67	299	299	0	strelka-varscan-mutect	ILDR2,synonymous_variant,p.=,ENST00000271417,NM_199351.2;ILDR2,synonymous_variant,p.=,ENST00000529071,;ILDR2,synonymous_variant,p.=,ENST00000528703,;ILDR2,synonymous_variant,p.=,ENST00000469934,;ILDR2,intron_variant,,ENST00000526687,;ILDR2,intron_variant,,ENST00000525740,;ILDR2,intron_variant,,ENST00000529387,;	G	ENST00000271417	Transcript	synonymous_variant	641/13140	585/1920	195/639	L	ctG/ctC		1		-1	ILDR2	HGNC	HGNC:18131	protein_coding	YES	CCDS1256.1	ENSP00000271417	Q71H61		UPI00002317DF	NM_199351.2			5/10		Pfam_domain:PF05624,hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs1329414547	.												G	2	3	48	166936709	166936709	C	G	1	0	0	0	0	0	0	0	1	7613	581	21	4		4	ILDR2	1	166936709	Silent	SNP	C	C3N-00545_TP	1257163	166936709	82019713	31	14976											
MAEL	0	.	GRCh38	chr1	166989423	166989423	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatccccgaactacggcGacgaggcctgcctgtggctc	8	6	13	14	4	0	1	0	0	0	1	2	5	1	1	4	3	3	1	4	3	3	1	rs756146420		C3N-00545_TP	C3N-00545_NB	G	G																c.71G>T	p.Arg24Leu	p.R24L	ENST00000367872	1/12	479	441	38	211	210	1	strelka-varscan-mutect	MAEL,missense_variant,p.Arg24Leu,ENST00000367872,NM_032858.2;MAEL,missense_variant,p.Arg24Leu,ENST00000367870,NM_001286377.1;MAEL,missense_variant,p.Arg24Leu,ENST00000447624,;MAEL,5_prime_UTR_variant,,ENST00000622874,NM_001286378.1;MAEL,upstream_gene_variant,,ENST00000491055,;	T	ENST00000367872	Transcript	missense_variant	315/1908	71/1305	24/434	R/L	cGa/cTa	rs756146420	1		1	MAEL	HGNC	HGNC:25929	protein_coding	YES	CCDS1257.1	ENSP00000356846	Q96JY0	A0A140VJP0	UPI0000042202	NM_032858.2	deleterious(0)		1/12		Gene3D:1.10.30.10,Pfam_domain:PF09011,hmmpanther:PTHR21358,hmmpanther:PTHR21358:SF4,Superfamily_domains:SSF47095																	MODERATE	1	SNV	1			1										PASS		rs756146420	.												T	3	4	48	166989423	166989423	G	T	1	0	0	0	0	1	0	0	0	9070	1058	37	1		1	MAEL	1	166989423	Missense_Mutation	SNP	G	C3N-00545_TP	52714	166989423	81966999	32	14977											
DUSP27	0	.	GRCh38	chr1	167126487	167126487	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgacatctgggtcctgaaGcagcagctggagctgaaccg	10	6	13	12	2	1	2	0	2	1	0	2	4	2	3	2	2	5	4	2	2	2	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1356G>A	p.=	p.K452K	ENST00000361200	6/6	222	188	34	135	135	0	strelka-varscan-mutect	DUSP27,synonymous_variant,p.=,ENST00000361200,;DUSP27,synonymous_variant,p.=,ENST00000443333,NM_001080426.1;DUSP27,synonymous_variant,p.=,ENST00000271385,;GPA33,intron_variant,,ENST00000632571,;DUSP27,intron_variant,,ENST00000485151,;	A	ENST00000361200	Transcript	synonymous_variant	1522/4164	1356/3477	452/1158	K	aaG/aaA		1		1	DUSP27	HGNC	HGNC:25034	protein_coding	YES	CCDS30932.1	ENSP00000354483	Q5VZP5		UPI000040DFF5				6/6																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	48	167126487	167126487	G	A	1	0	0	0	0	0	0	0	1	4646	962	34	3		3	DUSP27	1	167126487	Silent	SNP	G	C3N-00545_TP	137064	167126487	81829935	33	14978											
DUSP27	0	.	GRCh38	chr1	167127334	167127334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgtagtcagtgagaccCttgctcagaagcaaaatgaa	15	8	9	9	0	2	3	2	2	0	2	2	4	2	3	2	0	2	3	2	0	6	2			C3N-00545_TP	C3N-00545_NB	C	C																c.2203C>T	p.Leu735Phe	p.L735F	ENST00000361200	6/6	402	354	48	231	231	0	strelka-varscan-mutect	DUSP27,missense_variant,p.Leu735Phe,ENST00000361200,;DUSP27,missense_variant,p.Leu735Phe,ENST00000443333,NM_001080426.1;DUSP27,missense_variant,p.Leu735Phe,ENST00000271385,;GPA33,intron_variant,,ENST00000632571,;DUSP27,intron_variant,,ENST00000485151,;	T	ENST00000361200	Transcript	missense_variant	2369/4164	2203/3477	735/1158	L/F	Ctt/Ttt	COSM2185515	1		1	DUSP27	HGNC	HGNC:25034	protein_coding	YES	CCDS30932.1	ENSP00000354483	Q5VZP5		UPI000040DFF5		deleterious(0)		6/6													1						MODERATE	1	SNV	5		1	1										PASS		rs60430724	.												T	3	4	48	167127334	167127334	C	T	1	0	0	0	0	1	0	0	0	4646	681	24	3		3	DUSP27	1	167127334	Missense_Mutation	SNP	C	C3N-00545_TP	847	167127334	81829088	34	14979											
PAPPA2	0	.	GRCh38	chr1	176699161	176699161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctggagccctgaggtccaCctgtaccacatgaacatgac	10	7	10	14	0	0	3	0	3	0	0	1	4	1	4	5	2	3	1	5	2	2	1	rs776925998		C3N-00545_TP	C3N-00545_NB	C	C																c.2808C>A	p.His936Gln	p.H936Q	ENST00000367662	8/23	405	380	25	198	197	1	strelka-varscan	PAPPA2,missense_variant,p.His936Gln,ENST00000367662,NM_020318.2;	A	ENST00000367662	Transcript	missense_variant	3972/9691	2808/5376	936/1791	H/Q	caC/caA	rs776925998	1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2	tolerated(0.13)		8/23		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	176699161	176699161	C	A	1	0	0	0	0	1	0	0	0	11513	506	18	2		2	PAPPA2	1	176699161	Missense_Mutation	SNP	C	C3N-00545_TP	9571827	176699161	72257261	35	14980											
PAPPA2	0	.	GRCh38	chr1	176769749	176769749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccaaatttctgaaacgctGctcaatctcttgtgtcccac	11	12	5	13	1	3	1	1	1	2	0	5	1	4	1	2	0	3	2	2	0	4	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.4466G>T	p.Cys1489Phe	p.C1489F	ENST00000367662	16/23	200	187	13	113	113	0	strelka-varscan	PAPPA2,missense_variant,p.Cys1489Phe,ENST00000367662,NM_020318.2;	T	ENST00000367662	Transcript	missense_variant	5630/9691	4466/5376	1489/1791	C/F	tGc/tTc		1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2	deleterious(0)		16/23		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF1,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	176769749	176769749	G	T	1	0	0	0	0	1	0	0	0	11513	1319	46	2		2	PAPPA2	1	176769749	Missense_Mutation	SNP	G	C3N-00545_TP	70588	176769749	72186673	36	14981											
CACNA1E	0	.	GRCh38	chr1	181776205	181776205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacgagtttgtccgcgtctgGgcagaatatgaccgagcagc	9	8	14	10	4	1	2	0	1	1	1	2	5	2	2	2	1	2	3	2	1	2	2			C3N-00545_TP	C3N-00545_NB	G	G																c.5244G>T	p.Trp1748Cys	p.W1748C	ENST00000367573	38/48	346	288	58	180	180	0	strelka-varscan	CACNA1E,missense_variant,p.Trp1729Cys,ENST00000621791,NM_001205294.1;CACNA1E,missense_variant,p.Trp1748Cys,ENST00000621551,;CACNA1E,missense_variant,p.Trp1748Cys,ENST00000367567,;CACNA1E,missense_variant,p.Trp1729Cys,ENST00000358338,;CACNA1E,missense_variant,p.Trp1748Cys,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Trp1748Cys,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Trp1747Cys,ENST00000357570,;CACNA1E,missense_variant,p.Trp1729Cys,ENST00000360108,;RNA5SP70,downstream_gene_variant,,ENST00000517168,;	T	ENST00000367573	Transcript	missense_variant	5244/7067	5244/6942	1748/2313	W/C	tgG/tgT	COSM338243	1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1	deleterious(0)		38/48		PROSITE_profiles:PS50222,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Pfam_domain:PF16905											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	48	181776205	181776205	G	T	1	0	0	0	0	1	0	0	0	2230	1241	43	2		2	CACNA1E	1	181776205	Missense_Mutation	SNP	G	C3N-00545_TP	5006456	181776205	67180217	37	14982											
ZBED6	0	.	GRCh38	chr1	203797879	203797879	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctttttgagagcaatatAgaaaaacagatctatctacc	16	12	6	7	0	3	3	0	1	3	3	3	4	3	3	1	0	3	1	1	0	7	6	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.357A>T	p.=	p.I119I	ENST00000550078	1/1	388	360	28	143	143	0	strelka-varscan	ZBED6,synonymous_variant,p.=,ENST00000550078,NM_001174108.1;ZC3H11A,intron_variant,,ENST00000332127,NM_001319239.1;ZC3H11A,intron_variant,,ENST00000367214,;ZC3H11A,intron_variant,,ENST00000367212,NM_014827.4;ZC3H11A,intron_variant,,ENST00000453771,;ZC3H11A,intron_variant,,ENST00000432282,;ZC3H11A,upstream_gene_variant,,ENST00000545588,;ZC3H11A,intron_variant,,ENST00000466470,;ZC3H11A,intron_variant,,ENST00000461980,;ZC3H11A,downstream_gene_variant,,ENST00000492823,;ZC3H11A,upstream_gene_variant,,ENST00000495527,;	T	ENST00000550078	Transcript	synonymous_variant	1571/4250	357/2940	119/979	I	atA/atT		1		1	ZBED6	HGNC	HGNC:33273	protein_coding	YES	CCDS55673.1	ENSP00000447879	P86452		UPI0001661F07	NM_001174108.1			1/1																			LOW		SNV				1										PASS		.	.												T	2	4	48	203797879	203797879	A	T	1	0	0	0	0	0	0	0	1	18083	410	15	4		4	ZBED6	1	203797879	Silent	SNP	A	C3N-00545_TP	22021674	203797879	45158543	38	14983											
PLEKHA6	0	.	GRCh38	chr1	204241422	204241422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcattccttcttaccaCtgctgatggggtcacctcat	7	13	8	13	0	3	1	2	1	1	0	4	1	4	1	3	3	2	2	3	3	1	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.2362G>T	p.Val788Leu	p.V788L	ENST00000272203	17/23	253	202	51	166	166	0	strelka-varscan	PLEKHA6,missense_variant,p.Val788Leu,ENST00000272203,NM_014935.4;PLEKHA6,missense_variant,p.Val912Leu,ENST00000637508,;PLEKHA6,missense_variant,p.Val808Leu,ENST00000414478,;	A	ENST00000272203	Transcript	missense_variant	2679/7401	2362/3147	788/1048	V/L	Gtg/Ttg		1		-1	PLEKHA6	HGNC	HGNC:17053	protein_coding	YES	CCDS1444.1	ENSP00000272203	Q9Y2H5		UPI000013D935	NM_014935.4	tolerated(0.08)		17/23		hmmpanther:PTHR12752,hmmpanther:PTHR12752:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	204241422	204241422	C	A	1	0	0	0	0	1	0	0	0	12153	565	20	2		2	PLEKHA6	1	204241422	Missense_Mutation	SNP	C	C3N-00545_TP	443543	204241422	44715000	39	14984											
AVPR1B	0	.	GRCh38	chr1	206110303	206110303	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggctgaggctgagggtGgccgggcagctggagcgggt	5	6	22	8	2	0	3	0	3	0	0	0	4	0	4	1	7	2	4	1	7	0	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1161C>A	p.=	p.A387A	ENST00000367126	2/2	571	538	33	447	447	0	strelka-varscan	AVPR1B,synonymous_variant,p.=,ENST00000367126,NM_000707.3;AVPR1B,non_coding_transcript_exon_variant,,ENST00000612906,;	T	ENST00000367126	Transcript	synonymous_variant	1626/2237	1161/1275	387/424	A	gcC/gcA		1		-1	AVPR1B	HGNC	HGNC:896	protein_coding	YES	CCDS73015.1	ENSP00000356094	P47901		UPI000005043A	NM_000707.3			2/2		Pfam_domain:PF08983,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF18,SMART_domains:SM01164																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	206110303	206110303	G	T	1	0	0	0	0	0	0	0	1	1388	1335	47	2		2	AVPR1B	1	206110303	Silent	SNP	G	C3N-00545_TP	1868881	206110303	42846119	40	14985											
HHAT	0	.	GRCh38	chr1	210404550	210404550	+	Frame_Shift_Del	DEL	G	G	-																															tactacaccagcttcagcctGgagctctgctggcagcagct																								novel		C3N-00545_TP	C3N-00545_NB	G	G																c.559delG	p.Glu187SerfsTer52	p.E187Sfs*52	ENST00000545154	5/11	591	497	94	376	376	0	sindel-varindel-pindel	HHAT,frameshift_variant,p.Glu186SerfsTer52,ENST00000367010,NM_001170580.2;HHAT,frameshift_variant,p.Glu186SerfsTer52,ENST00000261458,NM_018194.5;HHAT,frameshift_variant,p.Glu186SerfsTer52,ENST00000413764,NM_001122834.3;HHAT,frameshift_variant,p.Glu187SerfsTer52,ENST00000545154,NM_001170587.2;HHAT,frameshift_variant,p.Glu121SerfsTer52,ENST00000537898,NM_001170588.2;HHAT,frameshift_variant,p.Glu58SerfsTer52,ENST00000426968,;HHAT,intron_variant,,ENST00000541565,NM_001170564.2;HHAT,intron_variant,,ENST00000545781,;	-	ENST00000545154	Transcript	frameshift_variant	663/3507	558/1485	186/494	L/X	ctG/ct		1		1	HHAT	HGNC	HGNC:18270	protein_coding	YES	CCDS53471.1	ENSP00000438468	Q5VTY9		UPI0001C0B381	NM_001170587.2			5/11		hmmpanther:PTHR13285,hmmpanther:PTHR13285:SF20,Pfam_domain:PF03062																	HIGH	1	deletion	2	1		1										PASS		.	.												-	7	5	48	210404550	210404550	G	-	1	0	1	0	1	0	0	0	0	6974	1335	47	0		0	HHAT	1	210404550	Frame_Shift_Del	DEL	G	C3N-00545_TP	4294247	210404550	38551872	41	14986											
OBSCN	0	.	GRCh38	chr1	228245557	228245557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggaagaagctgagctccaGctcaaaagtacgcatggagg	13	5	14	9	2	1	2	1	1	0	1	2	4	2	4	1	3	4	5	1	3	5	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.3902G>T	p.Ser1301Ile	p.S1301I	ENST00000570156	13/116	725	666	59	323	323	0	strelka-varscan	OBSCN,missense_variant,p.Ser1301Ile,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Ser1301Ile,ENST00000366707,;OBSCN,missense_variant,p.Ser1209Ile,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Ser1209Ile,ENST00000636875,;OBSCN,missense_variant,p.Ser1209Ile,ENST00000284548,NM_052843.3;	T	ENST00000570156	Transcript	missense_variant	3976/26925	3902/26772	1301/8923	S/I	aGc/aTc		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	deleterious(0)		13/116		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	48	228245557	228245557	G	T	1	0	0	0	0	1	0	0	0	10889	971	34	2		2	OBSCN	1	228245557	Missense_Mutation	SNP	G	C3N-00545_TP	17841007	228245557	20710865	42	14987											
OBSCN	0	.	GRCh38	chr1	228272031	228272031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaccatgctgagctgcgaGgtggcccaagcccagacgga	10	4	14	13	2	0	2	0	1	0	1	0	4	0	3	3	3	5	3	3	3	1	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.5796G>T	p.Glu1932Asp	p.E1932D	ENST00000570156	20/116	826	781	45	461	461	0	strelka-varscan	OBSCN,missense_variant,p.Glu1932Asp,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Glu1932Asp,ENST00000366707,;OBSCN,intron_variant,,ENST00000422127,NM_001098623.2;OBSCN,intron_variant,,ENST00000636875,;OBSCN,intron_variant,,ENST00000284548,NM_052843.3;RP5-1139B12.2,non_coding_transcript_exon_variant,,ENST00000602517,;RP5-1139B12.3,downstream_gene_variant,,ENST00000602529,;RP5-1139B12.3,downstream_gene_variant,,ENST00000602947,;	T	ENST00000570156	Transcript	missense_variant	5870/26925	5796/26772	1932/8923	E/D	gaG/gaT		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	tolerated(0.07)		20/116		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	48	228272031	228272031	G	T	1	0	0	0	0	1	0	0	0	10889	991	35	2		2	OBSCN	1	228272031	Missense_Mutation	SNP	G	C3N-00545_TP	26474	228272031	20684391	43	14988											
URB2	0	.	GRCh38	chr1	229647535	229647535	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccgagaagcttctcaggAgcagcctgtgtccctcacag	11	7	10	13	1	2	1	2	0	1	1	4	3	3	2	3	1	4	2	3	1	2	1	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.3932A>T	p.Glu1311Val	p.E1311V	ENST00000258243	7/10	283	232	51	236	235	1	strelka-varscan	URB2,missense_variant,p.Glu1311Val,ENST00000258243,NM_001314021.1,NM_014777.2;URB2,upstream_gene_variant,,ENST00000434387,;	T	ENST00000258243	Transcript	missense_variant	4068/5613	3932/4575	1311/1524	E/V	gAg/gTg		1		1	URB2	HGNC	HGNC:28967	protein_coding	YES	CCDS31052.1	ENSP00000258243	Q14146		UPI000013CFBD	NM_001314021.1,NM_014777.2	deleterious(0)		7/10		hmmpanther:PTHR15682																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	229647535	229647535	A	T	1	0	0	0	0	1	0	0	0	17555	304	11	4		4	URB2	1	229647535	Missense_Mutation	SNP	A	C3N-00545_TP	1375504	229647535	19308887	44	14989											
NID1	0	.	GRCh38	chr1	236045533	236045533	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttccataagaatcccaCtgaaccttgactgaatgcaa	13	10	6	12	0	1	4	0	3	1	1	3	4	3	4	3	0	2	2	3	0	5	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.676G>T	p.Val226Leu	p.V226L	ENST00000264187	3/20	685	591	94	309	309	0	strelka-varscan	NID1,missense_variant,p.Val226Leu,ENST00000264187,NM_002508.2;NID1,missense_variant,p.Val226Leu,ENST00000366595,;	A	ENST00000264187	Transcript	missense_variant	759/5864	676/3744	226/1247	V/L	Gtg/Ttg		1		-1	NID1	HGNC	HGNC:7821	protein_coding	YES	CCDS1608.1	ENSP00000264187	P14543		UPI000013D4D9	NM_002508.2	tolerated(0.07)		3/20		Pfam_domain:PF06119,PROSITE_profiles:PS51220,SMART_domains:SM00539																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	236045533	236045533	C	A	1	0	0	0	0	1	0	0	0	10447	565	20	2		2	NID1	1	236045533	Missense_Mutation	SNP	C	C3N-00545_TP	6397998	236045533	12910889	45	14990											
OR2G3	0	.	GRCh38	chr1	247606314	247606314	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccttcagcacctgctcctcCcaccttacagtggtgattat	7	12	7	15	0	1	1	1	1	0	0	3	1	3	1	5	1	3	2	5	1	2	3			C3N-00545_TP	C3N-00545_NB	C	C																c.729C>A	p.=	p.S243S	ENST00000320002	1/1	271	225	46	131	131	0	strelka-varscan	OR2G3,synonymous_variant,p.=,ENST00000320002,NM_001001914.1;U6,downstream_gene_variant,,ENST00000637707,;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;	A	ENST00000320002	Transcript	synonymous_variant	729/930	729/930	243/309	S	tcC/tcA	COSM534469	1		1	OR2G3	HGNC	HGNC:15008	protein_coding	YES	CCDS31093.1	ENSP00000326301	Q8NGZ4	A0A126GVX0	UPI0000041CD9	NM_001001914.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF300,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245											1						LOW		SNV			1	1										PASS		.	.												A	2	1	48	247606314	247606314	C	A	1	0	0	0	0	0	0	0	1	11077	610	22	2		2	OR2G3	1	247606314	Silent	SNP	C	C3N-00545_TP	11560781	247606314	1350108	46	14991											
TRIM58	0	.	GRCh38	chr1	247876339	247876339	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttatatctacacattcaaCcaactcttctctggtcttct	9	17	2	13	0	7	0	1	0	6	0	8	0	7	0	1	1	3	0	1	1	5	6	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.1311C>A	p.Asn437Lys	p.N437K	ENST00000366481	6/6	436	355	81	181	181	0	strelka-varscan	TRIM58,missense_variant,p.Asn437Lys,ENST00000366481,NM_015431.3;	A	ENST00000366481	Transcript	missense_variant	1359/3225	1311/1461	437/486	N/K	aaC/aaA		1		1	TRIM58	HGNC	HGNC:24150	protein_coding	YES	CCDS1636.1	ENSP00000355437	Q8NG06		UPI000020590E	NM_015431.3	deleterious(0.02)		6/6		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF393,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	247876339	247876339	C	A	1	0	0	0	0	1	0	0	0	17024	506	18	2		2	TRIM58	1	247876339	Missense_Mutation	SNP	C	C3N-00545_TP	270025	247876339	1080083	47	14992											
KCNK3	0	.	GRCh38	chr2	26692958	26692958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgccgcggtcttcgacgCgctggagtcggagcccgagc	4	5	18	14	8	1	0	0	0	1	0	3	4	1	2	2	4	2	1	2	4	0	1	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.83C>A	p.Ala28Glu	p.A28E	ENST00000302909	1/2	399	360	39	256	255	1	strelka-varscan	KCNK3,missense_variant,p.Ala28Glu,ENST00000302909,NM_002246.2;KCNK3,5_prime_UTR_variant,,ENST00000620977,;	A	ENST00000302909	Transcript	missense_variant	208/6162	83/1185	28/394	A/E	gCg/gAg		1		1	KCNK3	HGNC	HGNC:6278	protein_coding	YES	CCDS1727.1	ENSP00000306275	O14649		UPI00000422B1	NM_002246.2	deleterious(0.02)		1/2		Gene3D:1.10.287.70,PIRSF_domain:PIRSF038061,Prints_domain:PR01095,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF138,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	26692958	26692958	C	A	1	0	0	0	0	1	0	0	0	7984	768	27	1		1	KCNK3	2	26692958	Missense_Mutation	SNP	C	C3N-00545_TP		26692958	215500571	48	14993											
CENPA	0	.	GRCh38	chr2	26793209	26793209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccttacatgcaggccGagttactctcttcccaaagg	9	10	7	15	1	2	0	1	0	1	0	4	1	3	0	4	2	3	2	4	2	3	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.353G>T	p.Arg118Leu	p.R118L	ENST00000335756	4/5	491	453	38	327	327	0	strelka-varscan	CENPA,missense_variant,p.Arg118Leu,ENST00000335756,NM_001809.3;CENPA,missense_variant,p.Arg92Leu,ENST00000233505,NM_001042426.1;CENPA,non_coding_transcript_exon_variant,,ENST00000475662,;CENPA,non_coding_transcript_exon_variant,,ENST00000460030,;CENPA,non_coding_transcript_exon_variant,,ENST00000472719,;CENPA,3_prime_UTR_variant,,ENST00000419525,;	T	ENST00000335756	Transcript	missense_variant	553/1452	353/423	118/140	R/L	cGa/cTa		1		1	CENPA	HGNC	HGNC:1851	protein_coding	YES	CCDS1729.1	ENSP00000336868	P49450		UPI00001274F6	NM_001809.3	deleterious(0)		4/5		hmmpanther:PTHR11426,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	26793209	26793209	G	T	1	0	0	0	0	1	0	0	0	2934	1058	37	1		1	CENPA	2	26793209	Missense_Mutation	SNP	G	C3N-00545_TP	100251	26793209	215400320	49	14994											
XDH	0	.	GRCh38	chr2	31339507	31339507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcgatgcatagatggcCttcttgttggggcagtcgcg	6	12	13	10	3	1	1	0	0	1	1	3	2	1	1	2	3	1	3	2	3	1	5			C3N-00545_TP	C3N-00545_NB	C	C																c.3756G>T	p.Lys1252Asn	p.K1252N	ENST00000379416	34/36	967	882	85	508	505	3	strelka-varscan	XDH,missense_variant,p.Lys1252Asn,ENST00000379416,NM_000379.3;	A	ENST00000379416	Transcript	missense_variant	3805/5688	3756/4002	1252/1333	K/N	aaG/aaT	COSM5693595	1		-1	XDH	HGNC	HGNC:12805	protein_coding	YES	CCDS1775.1	ENSP00000368727	P47989		UPI0000036BC9	NM_000379.3	tolerated(0.62)		34/36		hmmpanther:PTHR11908,hmmpanther:PTHR11908:SF78,Gene3D:3.30.365.10,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF56003											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	48	31339507	31339507	C	A	1	0	0	0	0	1	0	0	0	17985	680	24	2		2	XDH	2	31339507	Missense_Mutation	SNP	C	C3N-00545_TP	4546298	31339507	210854022	50	14995											
NRXN1	0	.	GRCh38	chr2	50346745	50346745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattgcaataggcactgaatGatgcttgctgctgccatgga	10	11	12	8	0	0	2	0	2	0	0	0	4	0	3	1	2	5	5	1	2	3	3			C3N-00545_TP	C3N-00545_NB	G	G																c.205C>T	p.His69Tyr	p.H69Y	ENST00000342183	1/6	750	693	57	478	477	1	strelka-varscan-mutect	NRXN1,missense_variant,p.His69Tyr,ENST00000342183,NM_138735.2;NRXN1,missense_variant,p.His69Tyr,ENST00000401710,;NRXN1,missense_variant,p.His69Tyr,ENST00000628364,;NRXN1,5_prime_UTR_variant,,ENST00000611589,;NRXN1,intron_variant,,ENST00000406316,NM_004801.4;NRXN1,intron_variant,,ENST00000625672,;NRXN1,intron_variant,,ENST00000404971,NM_001135659.1;NRXN1,intron_variant,,ENST00000401669,;NRXN1,intron_variant,,ENST00000405472,;NRXN1,intron_variant,,ENST00000630543,;NRXN1,intron_variant,,ENST00000625320,;NRXN1,intron_variant,,ENST00000636298,;NRXN1,intron_variant,,ENST00000637889,;NRXN1,intron_variant,,ENST00000635264,;NRXN1,intron_variant,,ENST00000636818,;NRXN1,missense_variant,p.His30Tyr,ENST00000637906,;NRXN1,intron_variant,,ENST00000331040,;	A	ENST00000342183	Transcript	missense_variant	1010/3315	205/1329	69/442	H/Y	Cat/Tat	COSM362020	1		-1	NRXN1	HGNC	HGNC:8008	protein_coding		CCDS1845.1	ENSP00000341184	P58400		UPI000013D941	NM_138735.2	deleterious_low_confidence(0)		1/6		Low_complexity_(Seg):seg											1						MODERATE		SNV	1		1	1										PASS		.	.												A	3	1	48	50346745	50346745	G	A	1	0	0	0	0	1	0	0	0	10724	1290	45	3		3	NRXN1	2	50346745	Missense_Mutation	SNP	G	C3N-00545_TP	19007238	50346745	191846784	51	14996											
USP34	0	.	GRCh38	chr2	61295032	61295032	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ataaagatcactgtaacttcCctatgagaaaggcaaaaaaa	20	8	6	7	0	1	2	1	1	0	2	2	3	2	2	1	1	1	2	1	1	8	4	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.4378G>C	p.Gly1460Arg	p.G1460R	ENST00000398571	32/80	162	142	20	20	20	0	strelka-mutect	USP34,missense_variant,p.Gly1460Arg,ENST00000398571,NM_014709.3;USP34,intron_variant,,ENST00000472706,;	G	ENST00000398571	Transcript	missense_variant,splice_region_variant	4455/11357	4378/10641	1460/3546	G/R	Gga/Cga		1		-1	USP34	HGNC	HGNC:20066	protein_coding	YES	CCDS42686.1	ENSP00000381577	Q70CQ2		UPI0000410E09	NM_014709.3	tolerated(0.06)		32/80																			MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	48	61295032	61295032	C	G	1	0	0	0	0	1	0	0	0	17607	637	22	4		4	USP34	2	61295032	Missense_Mutation	SNP	C	C3N-00545_TP	10948287	61295032	180898497	52	14997											
VPS54	0	.	GRCh38	chr2	63942464	63942464	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaactaatttataagcttaCcttcactctctgtaggaaaa	15	13	4	9	0	2	0	1	0	1	0	3	1	2	1	1	1	3	2	1	1	8	7	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.1398+1G>C		p.X466_splice	ENST00000272322		107	91	16	15	15	0	strelka-mutect	VPS54,splice_donor_variant,,ENST00000409558,NM_001005739.1;VPS54,splice_donor_variant,,ENST00000354504,;VPS54,splice_donor_variant,,ENST00000272322,NM_016516.2;	G	ENST00000272322	Transcript	splice_donor_variant	-/3463	1398/2934	466/977				1		-1	VPS54	HGNC	HGNC:18652	protein_coding	YES	CCDS33208.1	ENSP00000272322	Q9P1Q0		UPI0000053408	NM_016516.2				11/22																		HIGH	1	SNV	5			1										PASS		.	.												G	5	3	48	63942464	63942464	C	G	1	0	0	0	0	0	0	1	0	17764	521	18	4		4	VPS54	2	63942464	Splice_Site	SNP	C	C3N-00545_TP	2647432	63942464	178251065	53	14998											
ZNF638	0	.	GRCh38	chr2	71349362	71349362	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtacagagccgctatacAaaagagagtgcctcaagtat	17	7	9	8	1	1	2	1	0	0	2	1	3	1	2	2	0	4	3	2	0	8	4	rs186891171		C3N-00545_TP	C3N-00545_NB	A	A																c.408A>C	p.=	p.T136T	ENST00000409544	2/28	423	382	41	128	128	0	strelka-varscan-mutect	ZNF638,synonymous_variant,p.=,ENST00000409544,NM_001252612.1;ZNF638,synonymous_variant,p.=,ENST00000264447,NM_014497.4,NM_001014972.2,NM_001252613.1;ZNF638,synonymous_variant,p.=,ENST00000410075,;ZNF638,synonymous_variant,p.=,ENST00000437658,;ZNF638,intron_variant,,ENST00000494621,;ZNF638,intron_variant,,ENST00000466330,;ZNF638,intron_variant,,ENST00000464375,;ZNF638,intron_variant,,ENST00000475743,;ZNF638,intron_variant,,ENST00000466975,;ZNF638,downstream_gene_variant,,ENST00000417778,;ZNF638,downstream_gene_variant,,ENST00000454122,;ZNF638,downstream_gene_variant,,ENST00000454278,;ZNF638,downstream_gene_variant,,ENST00000455226,;ZNF638,downstream_gene_variant,,ENST00000487707,;	C	ENST00000409544	Transcript	synonymous_variant	1038/6821	408/5937	136/1978	T	acA/acC	rs186891171	1		1	ZNF638	HGNC	HGNC:17894	protein_coding	YES	CCDS1917.1	ENSP00000386433	Q14966		UPI000013D51B	NM_001252612.1			2/28		hmmpanther:PTHR15592,hmmpanther:PTHR15592:SF1																	LOW	1	SNV	1			1										PASS		rs186891171	.												C	2	2	48	71349362	71349362	A	C	1	0	0	0	0	0	0	0	1	18630	117	5	5		5	ZNF638	2	71349362	Silent	SNP	A	C3N-00545_TP	7406898	71349362	170844167	54	14999											
TRABD2A	0	.	GRCh38	chr2	84870786	84870786	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaattcagctcgctttgCtgaaaagaaaagaggtaaca	17	8	10	6	1	1	3	1	1	0	2	2	4	1	4	0	2	3	4	0	2	7	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.109-1G>T		p.X37_splice	ENST00000409520		114	105	9	72	72	0	strelka-varscan-mutect	TRABD2A,splice_acceptor_variant,,ENST00000409520,NM_001277053.1;TRABD2A,splice_acceptor_variant,,ENST00000335459,NM_001080824.2;TRABD2A,splice_acceptor_variant,,ENST00000409133,NM_001307978.1;TRABD2A,splice_acceptor_variant,,ENST00000436322,;TRABD2A,splice_acceptor_variant,,ENST00000474298,;RPL12P18,upstream_gene_variant,,ENST00000437175,;	A	ENST00000409520	Transcript	splice_acceptor_variant	-/1975	109/1518	37/505				1		-1	TRABD2A	HGNC	HGNC:27013	protein_coding	YES	CCDS62946.1	ENSP00000387075	Q86V40		UPI000016012F	NM_001277053.1				1/6																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	48	84870786	84870786	C	A	1	0	0	0	0	0	0	1	0	16917	811	28	2		2	TRABD2A	2	84870786	Splice_Site	SNP	C	C3N-00545_TP	13521424	84870786	157322743	55	15000											
POTEE	0	.	GRCh38	chr2	131218912	131218912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgacgtgaacaagaaggaCaagcaaaagaggtaaccagg	19	3	12	7	1	0	4	0	2	0	2	0	5	0	5	1	3	3	2	1	3	7	1	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.510C>A	p.Asp170Glu	p.D170E	ENST00000356920	1/15	658	619	39	438	438	0	varscan-mutect	POTEE,missense_variant,p.Asp170Glu,ENST00000356920,NM_001083538.1;POTEE,missense_variant,p.Asp170Glu,ENST00000626191,;POTEE,missense_variant,p.Asp170Glu,ENST00000613282,;PLEKHB2,intron_variant,,ENST00000404460,;POTEE,missense_variant,p.Asp170Glu,ENST00000358087,;POTEE,missense_variant,p.Asp170Glu,ENST00000514256,;	A	ENST00000356920	Transcript	missense_variant	846/4159	510/3228	170/1075	D/E	gaC/gaA		1		1	POTEE	HGNC	HGNC:33895	protein_coding	YES	CCDS46414.1	ENSP00000439189	Q6S8J3		UPI0000F58EC8	NM_001083538.1	deleterious_low_confidence(0)		1/15		PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	131218912	131218912	C	A	1	0	0	0	0	1	0	0	0	12378	477	17	2		2	POTEE	2	131218912	Missense_Mutation	SNP	C	C3N-00545_TP	46348126	131218912	110974617	56	15001											
NXPH2	0	.	GRCh38	chr2	138671347	138671347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggagattgagtttgaCagttttaatgttggaatgaa	13	14	13	1	0	0	5	0	4	0	1	0	8	0	6	0	2	0	3	0	2	3	5	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.370G>T	p.Val124Phe	p.V124F	ENST00000272641	2/2	340	317	23	162	162	0	strelka-varscan-mutect	NXPH2,missense_variant,p.Val124Phe,ENST00000272641,NM_007226.2;	A	ENST00000272641	Transcript	missense_variant	477/1052	370/795	124/264	V/F	Gtc/Ttc		1		-1	NXPH2	HGNC	HGNC:8076	protein_coding	YES	CCDS46421.1	ENSP00000272641	O95156		UPI000023FCD4	NM_007226.2	deleterious(0)		2/2		Pfam_domain:PF06312,PIRSF_domain:PIRSF038019,hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	138671347	138671347	C	A	1	0	0	0	0	1	0	0	0	10867	478	17	2		2	NXPH2	2	138671347	Missense_Mutation	SNP	C	C3N-00545_TP	7452435	138671347	103522182	57	15002											
NEB	0	.	GRCh38	chr2	151677912	151677912	+	Silent	SNP	C	C	A																															atcatgttcttagacagctcCaggtccatggcgtcaggcaa																										C3N-00545_TP	C3N-00545_NB	C	C																c.3531G>T	p.=	p.L1177L	ENST00000618972	33/183	130	119	11	75	75	0	strelka-varscan-mutect	NEB,synonymous_variant,p.=,ENST00000618972,NM_001271208.1;NEB,synonymous_variant,p.=,ENST00000397345,NM_001164508.1;NEB,synonymous_variant,p.=,ENST00000427231,NM_001164507.1;NEB,synonymous_variant,p.=,ENST00000603639,;NEB,synonymous_variant,p.=,ENST00000604864,;NEB,synonymous_variant,p.=,ENST00000409198,NM_004543.4;NEB,synonymous_variant,p.=,ENST00000172853,;	A	ENST00000618972	Transcript	synonymous_variant	3734/26307	3531/25683	1177/8560	L	ctG/ctT	COSM5394529,COSM5394530,COSM5394531	1		-1	NEB	HGNC	HGNC:7720	protein_coding	YES	CCDS74588.1	ENSP00000484342		A0A087X1N7	UPI0004E4CCB0	NM_001271208.1			33/183		PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227											1,1,1						LOW	1	SNV	5		1,1,1	1										PASS		.	.												A	2	1	48	151677912	151677912	C	A	1	0	0	0	0	0	0	0	1	10326	581	21	2		2	NEB	2	151677912	Silent	SNP	C	C3N-00545_TP	13006565	151677912	90515617	58	15003	322	2									
NEB	0	.	GRCh38	chr2	151677913	151677913	+	Missense_Mutation	SNP	A	A	G																															tcatgttcttagacagctccAggtccatggcgtcaggcaag																								novel		C3N-00545_TP	C3N-00545_NB	A	A																c.3530T>C	p.Leu1177Pro	p.L1177P	ENST00000618972	33/183	133	122	11	76	76	0	strelka-varscan-mutect	NEB,missense_variant,p.Leu1177Pro,ENST00000618972,NM_001271208.1;NEB,missense_variant,p.Leu1177Pro,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Leu1177Pro,ENST00000427231,NM_001164507.1;NEB,missense_variant,p.Leu1177Pro,ENST00000603639,;NEB,missense_variant,p.Leu1177Pro,ENST00000604864,;NEB,missense_variant,p.Leu1177Pro,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Leu1177Pro,ENST00000172853,;	G	ENST00000618972	Transcript	missense_variant	3733/26307	3530/25683	1177/8560	L/P	cTg/cCg		1		-1	NEB	HGNC	HGNC:7720	protein_coding	YES	CCDS74588.1	ENSP00000484342		A0A087X1N7	UPI0004E4CCB0	NM_001271208.1	deleterious(0)		33/183		PROSITE_profiles:PS51216,hmmpanther:PTHR11039:SF37,hmmpanther:PTHR11039,Pfam_domain:PF00880,SMART_domains:SM00227																	MODERATE	1	SNV	5			1										PASS		rs1238480774	.												G	3	3	48	151677913	151677913	A	G	1	0	0	0	0	1	0	0	0	10326	188	7	5		5	NEB	2	151677913	Missense_Mutation	SNP	A	C3N-00545_TP	1	151677913	90515616	59	15004	322	2									
GALNT13	0	.	GRCh38	chr2	154438623	154438623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgctgacaaagaaatccGaaccgatgacttgtgcttgg	12	9	10	10	2	0	3	0	2	0	1	1	5	1	3	2	1	3	2	2	1	3	2	rs148805770		C3N-00545_TP	C3N-00545_NB	G	G																c.1427G>T	p.Arg476Leu	p.R476L	ENST00000409237	10/12	141	128	13	34	34	0	strelka-mutect	GALNT13,missense_variant,p.Arg476Leu,ENST00000392825,NM_052917.3;GALNT13,missense_variant,p.Arg476Leu,ENST00000409237,NM_001301627.1;GALNT13,missense_variant,p.Arg11Leu,ENST00000453715,;GALNT13,missense_variant,p.Arg62Leu,ENST00000450838,;GALNT13,intron_variant,,ENST00000422126,;AC009227.2,intron_variant,,ENST00000434635,;GALNT13,non_coding_transcript_exon_variant,,ENST00000487047,;GALNT13,upstream_gene_variant,,ENST00000489553,;	T	ENST00000409237	Transcript	missense_variant	1427/2591	1427/1686	476/561	R/L	cGa/cTa	rs148805770,COSM1007946,COSM3299417	1		1	GALNT13	HGNC	HGNC:23242	protein_coding	YES	CCDS77472.1	ENSP00000387239	Q8IUC8		UPI0000E4465D	NM_001301627.1	tolerated(0.05)		10/12		Gene3D:2.80.10.50,Pfam_domain:PF00652,PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF47,SMART_domains:SM00458,Superfamily_domains:SSF50370											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs148805770	.												T	3	4	48	154438623	154438623	G	T	1	0	0	0	0	1	0	0	0	6079	1058	37	1		1	GALNT13	2	154438623	Missense_Mutation	SNP	G	C3N-00545_TP	2760710	154438623	87754906	60	15005											
CD302	0	.	GRCh38	chr2	159798161	159798161	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcggcgaggcccagcAacggcagcaggagcgcgggc	9	0	18	14	5	0	0	0	0	0	0	0	2	0	1	1	5	6	4	1	5	1	0	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.38T>C	p.Leu13Ser	p.L13S	ENST00000259053	1/6	351	332	19	244	244	0	strelka-varscan-mutect	CD302,missense_variant,p.Leu13Ser,ENST00000553424,NM_001198764.1;CD302,missense_variant,p.Leu13Ser,ENST00000429078,NM_001198763.1;CD302,missense_variant,p.Leu13Ser,ENST00000259053,NM_014880.4;LY75-CD302,intron_variant,,ENST00000504764,NM_001198759.1;LY75-CD302,intron_variant,,ENST00000505052,NM_001198760.1;CD302,non_coding_transcript_exon_variant,,ENST00000480212,;	G	ENST00000259053	Transcript	missense_variant	82/3741	38/699	13/232	L/S	tTg/tCg		1		-1	CD302	HGNC	HGNC:30843	protein_coding	YES	CCDS33308.1	ENSP00000259053	Q8IX05		UPI000007443B	NM_014880.4	tolerated(0.41)		1/6		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	48	159798161	159798161	A	G	1	0	0	0	0	1	0	0	0	2707	131	5	5		5	CD302	2	159798161	Missense_Mutation	SNP	A	C3N-00545_TP	5359538	159798161	82395368	61	15006											
ABCB11	0	.	GRCh38	chr2	168932412	168932412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtattgtatacactgattgGgggttgtcggtccagcagtt	8	14	13	6	1	0	1	0	1	0	0	2	1	1	1	1	3	2	5	1	3	3	7	rs755717909		C3N-00545_TP	C3N-00545_NB	G	G																c.3178C>A	p.Pro1060Thr	p.P1060T	ENST00000263817	24/28	219	197	22	94	94	0	strelka-varscan-mutect	ABCB11,missense_variant,p.Pro1060Thr,ENST00000263817,NM_003742.2;ABCB11,3_prime_UTR_variant,,ENST00000439188,;	T	ENST00000263817	Transcript	missense_variant	3303/4775	3178/3966	1060/1321	P/T	Cca/Aca	rs755717909	1		-1	ABCB11	HGNC	HGNC:42	protein_coding	YES	CCDS46444.1	ENSP00000263817	O95342		UPI0000163BFA	NM_003742.2	tolerated(0.58)		24/28		hmmpanther:PTHR24221:SF165,hmmpanther:PTHR24221,Gene3D:2hydA01																	MODERATE	1	SNV	1			1										PASS		rs755717909	.												T	3	4	48	168932412	168932412	G	T	1	0	0	0	0	1	0	0	0	46	1232	43	2		2	ABCB11	2	168932412	Missense_Mutation	SNP	G	C3N-00545_TP	9134251	168932412	73261117	62	15007											
CHN1	0	.	GRCh38	chr2	174824434	174824434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagacaagagctcttacCtgcacatttcactccctgag	12	9	7	13	0	2	3	1	1	1	2	3	4	3	3	2	0	3	2	2	0	3	2	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.712G>T	p.Asp238Tyr	p.D238Y	ENST00000409900	8/13	179	167	12	69	69	0	strelka-mutect	CHN1,missense_variant,p.Asp238Tyr,ENST00000409900,NM_001822.5;CHN1,missense_variant,p.Asp113Tyr,ENST00000295497,NM_001206602.1;CHN1,missense_variant,p.Asp212Tyr,ENST00000409156,NM_001025201.3;CHN1,missense_variant,p.Asp54Tyr,ENST00000409597,;CHN1,missense_variant,p.Asp13Tyr,ENST00000444394,;CHN1,missense_variant,p.Val13Phe,ENST00000409089,;CHN1,missense_variant,p.Asp56Tyr,ENST00000413882,;CHN1,missense_variant,p.Asp64Tyr,ENST00000443238,;CHN1,missense_variant,p.Val113Phe,ENST00000444573,;CHN1,splice_region_variant,,ENST00000488080,;CHN1,splice_region_variant,,ENST00000425395,;CHN1,splice_region_variant,,ENST00000485882,;	A	ENST00000409900	Transcript	missense_variant,splice_region_variant	1026/2447	712/1380	238/459	D/Y	Gat/Tat		1		-1	CHN1	HGNC	HGNC:1943	protein_coding	YES	CCDS46455.1	ENSP00000386741	P15882		UPI000012781D	NM_001822.5	deleterious(0)		8/13		Gene3D:3.30.60.20,Pfam_domain:PF00130,PIRSF_domain:PIRSF038015,Prints_domain:PR00008,PROSITE_patterns:PS00479,PROSITE_profiles:PS50081,hmmpanther:PTHR23176,hmmpanther:PTHR23176:SF34,SMART_domains:SM00109,Superfamily_domains:SSF57889																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	174824434	174824434	C	A	1	0	0	0	0	1	0	0	0	3122	695	24	2		2	CHN1	2	174824434	Missense_Mutation	SNP	C	C3N-00545_TP	5892022	174824434	67369095	63	15008											
HECW2	0	.	GRCh38	chr2	196325150	196325150	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcccaactgccctaagatCtttaaagaaagagggagaag	16	7	10	8	0	1	4	0	0	1	4	1	5	1	4	2	1	3	0	2	1	7	4	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.572-1G>A		p.X191_splice	ENST00000260983		84	75	9	40	40	0	strelka-varscan-mutect	HECW2,splice_acceptor_variant,,ENST00000260983,NM_020760.2;HECW2,intron_variant,,ENST00000409111,NM_001304840.1;	T	ENST00000260983	Transcript	splice_acceptor_variant	-/11809	572/4719	191/1572				1		-1	HECW2	HGNC	HGNC:29853	protein_coding	YES	CCDS33354.1	ENSP00000260983	Q9P2P5		UPI00001A75E8	NM_020760.2				5/28																		HIGH	1	SNV	1			1										PASS		rs1479285906	.												T	5	4	48	196325150	196325150	C	T	1	0	0	0	0	0	0	1	0	6925	927	32	3		3	HECW2	2	196325150	Splice_Site	SNP	C	C3N-00545_TP	21500716	196325150	45868379	64	15009											
AC013264.1	0	.	GRCh38	chr2	196993672	196993672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcgcgcagcgacgtggaggGgtctaaaaaacacaagaccg	13	4	14	10	5	1	1	0	0	1	1	1	3	1	2	1	3	3	1	1	3	4	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.2834C>T	p.Pro945Leu	p.P945L	ENST00000282272	27/28	396	371	25	233	232	1	strelka-varscan-mutect	AC013264.1,missense_variant,p.Pro945Leu,ENST00000282272,NM_001195144.1;ANKRD44,missense_variant,p.Pro760Leu,ENST00000424317,;ANKRD44,missense_variant,p.Pro134Leu,ENST00000448801,;ANKRD44,downstream_gene_variant,,ENST00000328737,;ANKRD44,splice_region_variant,,ENST00000493808,;ANKRD44,upstream_gene_variant,,ENST00000486006,;	A	ENST00000282272	Transcript	missense_variant,splice_region_variant	2834/2982	2834/2982	945/993	P/L	cCc/cTc		1		-1	AC013264.1	Clone_based_ensembl_gene		protein_coding	YES	CCDS74619.1	ENSP00000282272	Q8N8A2		UPI000185D541	NM_001195144.1	deleterious(0)		27/28		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24158,hmmpanther:PTHR24158:SF19,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	48	196993672	196993672	G	A	1	0	0	0	0	1	0	0	0	123	1246	43	3		3	AC013264.1	2	196993672	Missense_Mutation	SNP	G	C3N-00545_TP	668522	196993672	45199857	65	15010											
PTH2R	0	.	GRCh38	chr2	208444737	208444737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtttatttgtaatagatcGggtgcaagattgctgttgtg	8	17	13	3	1	0	2	0	0	0	2	1	2	0	2	0	2	2	5	0	2	4	7	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.703G>A	p.Gly235Arg	p.G235R	ENST00000272847	7/13	115	106	9	23	23	0	strelka-mutect	PTH2R,missense_variant,p.Gly235Arg,ENST00000272847,NM_005048.3;PTH2R,missense_variant,p.Gly124Arg,ENST00000617735,;	A	ENST00000272847	Transcript	missense_variant	916/2713	703/1653	235/550	G/R	Ggg/Agg		1		1	PTH2R	HGNC	HGNC:9609	protein_coding	YES	CCDS2383.1	ENSP00000272847	P49190		UPI000005041E	NM_005048.3	deleterious(0)		7/13		Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF69,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	208444737	208444737	G	A	1	0	0	0	0	1	0	0	0	12916	1130	39	1		1	PTH2R	2	208444737	Missense_Mutation	SNP	G	C3N-00545_TP	11451065	208444737	33748792	66	15011											
UNC80	0	.	GRCh38	chr2	209896340	209896340	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttggagtgcaagcgagcCcagcattgagccagagggaa	11	6	14	10	1	0	2	0	1	0	1	1	5	1	4	3	2	5	2	3	2	2	2	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.4310C>A	p.Pro1437His	p.P1437H	ENST00000439458	27/64	632	592	40	383	382	1	strelka-varscan-mutect	UNC80,missense_variant,p.Pro1437His,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Pro1432His,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	A	ENST00000439458	Transcript	missense_variant	4390/13562	4310/9777	1437/3258	P/H	cCc/cAc		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1	deleterious(0.01)		27/64		hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1																	MODERATE	1	SNV	5			1										PASS		rs1391759120	.												A	3	1	48	209896340	209896340	C	A	1	0	0	0	0	1	0	0	0	17521	623	22	2		2	UNC80	2	209896340	Missense_Mutation	SNP	C	C3N-00545_TP	1451603	209896340	32297189	67	15012											
IGFBP5	0	.	GRCh38	chr2	216676811	216676811	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgtcaacgtactccatGcctggcagcttcatcccgta	7	10	7	17	3	2	0	2	0	0	0	5	0	5	0	5	1	4	4	5	1	3	3	rs746043867		C3N-00545_TP	C3N-00545_NB	G	G																c.759C>A	p.=	p.G253G	ENST00000233813	4/4	496	466	30	284	284	0	strelka-varscan-mutect	IGFBP5,synonymous_variant,p.=,ENST00000233813,NM_000599.3;IGFBP5,downstream_gene_variant,,ENST00000449583,;IGFBP5,downstream_gene_variant,,ENST00000486341,;	T	ENST00000233813	Transcript	synonymous_variant	1509/6215	759/819	253/272	G	ggC/ggA	rs746043867	1		-1	IGFBP5	HGNC	HGNC:5474	protein_coding	YES	CCDS2405.1	ENSP00000233813	P24593	A0A024R433	UPI000004E58C	NM_000599.3			4/4		PROSITE_profiles:PS51162,hmmpanther:PTHR11551:SF4,hmmpanther:PTHR11551,Pfam_domain:PF00086,SMART_domains:SM00211,Superfamily_domains:SSF57610																	LOW	1	SNV	1			1										PASS		rs746043867	.												T	2	4	48	216676811	216676811	G	T	1	0	0	0	0	0	0	0	1	7488	1306	46	2		2	IGFBP5	2	216676811	Silent	SNP	G	C3N-00545_TP	6780471	216676811	25516718	68	15013											
CFAP65	0	.	GRCh38	chr2	219031140	219031140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatgctgctcctctgccgGctgcccgccccgtaccagca	4	8	11	18	3	1	0	0	0	1	0	2	1	2	1	6	2	6	5	6	2	1	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.981C>A	p.Ser327Arg	p.S327R	ENST00000341552	8/35	327	297	30	222	222	0	strelka-varscan-mutect	CFAP65,missense_variant,p.Ser327Arg,ENST00000341552,NM_194302.3;CFAP65,missense_variant,p.Ser327Arg,ENST00000453220,;CFAP65,missense_variant,p.Ser316Arg,ENST00000409865,NM_001278295.1;CFAP65,missense_variant,p.Ser262Arg,ENST00000410037,NM_001278296.1;CFAP65,missense_variant,p.Ser223Arg,ENST00000457968,;CFAP65,5_prime_UTR_variant,,ENST00000441968,;CFAP65,downstream_gene_variant,,ENST00000295729,NM_152389.3;CFAP65,downstream_gene_variant,,ENST00000458526,;CFAP65,downstream_gene_variant,,ENST00000436631,;CFAP65,non_coding_transcript_exon_variant,,ENST00000462848,;CFAP65,intron_variant,,ENST00000463683,;CFAP65,upstream_gene_variant,,ENST00000474601,;	T	ENST00000341552	Transcript	missense_variant	1065/5953	981/5778	327/1925	S/R	agC/agA		1		-1	CFAP65	HGNC	HGNC:25325	protein_coding	YES	CCDS2430.2	ENSP00000340776	Q6ZU64		UPI0000609097	NM_194302.3	tolerated(0.28)		8/35																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	48	219031140	219031140	G	T	1	0	0	0	0	1	0	0	0	3029	1194	42	2		2	CFAP65	2	219031140	Missense_Mutation	SNP	G	C3N-00545_TP	2354329	219031140	23162389	69	15014											
MOGAT1	0	.	GRCh38	chr2	222688449	222688449	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgactggcataccccagagcGaggaggcaggagatccagct	11	5	14	11	1	0	3	0	1	0	2	1	6	1	4	3	4	3	3	3	4	1	1	rs775859985		C3N-00545_TP	C3N-00545_NB	G	G																c.200G>C	p.Arg67Pro	p.R67P	ENST00000446656	2/6	296	278	18	127	127	0	strelka-varscan-mutect	MOGAT1,missense_variant,p.Arg67Pro,ENST00000446656,NM_058165.2;	C	ENST00000446656	Transcript	missense_variant	200/1048	200/1008	67/335	R/P	cGa/cCa	rs775859985	1		1	MOGAT1	HGNC	HGNC:18210	protein_coding	YES	CCDS46524.1	ENSP00000406674	Q96PD6		UPI000013D50F	NM_058165.2	deleterious(0.02)		2/6		hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF26,Pfam_domain:PF03982																	MODERATE	1	SNV	5			1										PASS		rs775859985	.												C	3	2	48	222688449	222688449	G	C	1	0	0	0	0	1	0	0	0	9657	1058	37	4		4	MOGAT1	2	222688449	Missense_Mutation	SNP	G	C3N-00545_TP	3657309	222688449	19505080	70	15015											
MROH2A	0	.	GRCh38	chr2	233811899	233811899	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtcatcaaggcagaacCgactgacaacctggtttctc	10	8	11	12	2	3	2	2	1	1	1	4	3	3	2	2	4	2	2	2	4	3	1	rs866984468		C3N-00545_TP	C3N-00545_NB	C	C																c.2600C>A	p.Pro867Gln	p.P867Q	ENST00000610772	24/42	386	363	23	229	228	1	strelka-varscan-mutect	MROH2A,missense_variant,p.Pro864Gln,ENST00000389758,;MROH2A,missense_variant,p.Pro867Gln,ENST00000610772,NM_001287395.1;	A	ENST00000610772	Transcript	missense_variant	2693/5324	2600/5067	867/1688	P/Q	cCg/cAg	rs866984468	1		1	MROH2A	HGNC	HGNC:27936	protein_coding	YES	CCDS74674.1	ENSP00000477597		A0A087WT58	UPI00021AED4F	NM_001287395.1	deleterious(0)		24/42		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		rs866984468	.												A	3	1	48	233811899	233811899	C	A	1	0	0	0	0	1	0	0	0	9744	652	23	1		1	MROH2A	2	233811899	Missense_Mutation	SNP	C	C3N-00545_TP	11123450	233811899	8381630	71	15016											
RTP5	0	.	GRCh38	chr2	241871725	241871725	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgccgcaggctccagtgcgGtcactgtccggggacctggg	4	6	16	15	4	1	0	1	0	0	0	3	1	3	1	5	5	1	2	5	5	0	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.170G>C	p.Gly57Ala	p.G57A	ENST00000343216	2/2	121	111	10	93	93	0	strelka-varscan-mutect	RTP5,missense_variant,p.Gly57Ala,ENST00000343216,NM_173821.2;RTP5,3_prime_UTR_variant,,ENST00000419912,;	C	ENST00000343216	Transcript	missense_variant	198/2296	170/1719	57/572	G/A	gGt/gCt		1		1	RTP5	HGNC	HGNC:26585	protein_coding	YES	CCDS42843.1	ENSP00000345374	Q14D33		UPI000014050F	NM_173821.2	tolerated(0.14)		2/2		Pfam_domain:PF13695,hmmpanther:PTHR14402,hmmpanther:PTHR14402:SF2,SMART_domains:SM01328																	MODERATE	1	SNV	1			1										PASS		rs1051067069	.												C	3	2	48	241871725	241871725	G	C	1	0	0	0	0	1	0	0	0	13997	1261	44	4		4	RTP5	2	241871725	Missense_Mutation	SNP	G	C3N-00545_TP	8059826	241871725	321804	72	15017											
PLCL2	0	.	GRCh38	chr3	17010389	17010389	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgaaatttatttcctttTagttcagttttcaagcaata	12	18	4	7	0	2	1	2	1	0	0	3	1	3	1	2	0	1	3	2	0	6	9	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.1043T>C	p.Leu348Ser	p.L348S	ENST00000615277	2/6	106	94	12	22	22	0	strelka-mutect	PLCL2,missense_variant,p.Leu348Ser,ENST00000615277,NM_001144382.1;PLCL2,missense_variant,p.Leu222Ser,ENST00000432376,NM_015184.5;PLCL2,upstream_gene_variant,,ENST00000419842,;PLCL2,intron_variant,,ENST00000460467,;	C	ENST00000615277	Transcript	missense_variant	1124/4147	1043/3384	348/1127	L/S	tTa/tCa		1		1	PLCL2	HGNC	HGNC:9064	protein_coding	YES	CCDS74911.1	ENSP00000478458	Q9UPR0		UPI0000242D01	NM_001144382.1	deleterious(0)		2/6		hmmpanther:PTHR10336:SF84,hmmpanther:PTHR10336,Gene3D:1.10.238.10,Pfam_domain:PF09279,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	48	17010389	17010389	T	C	1	0	0	0	0	1	0	0	0	12134	1764	61	5		5	PLCL2	3	17010389	Missense_Mutation	SNP	T	C3N-00545_TP		17010389	181285170	73	15018											
SCN5A	0	.	GRCh38	chr3	38560286	38560286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtagttcaaaggcaagtctCcctctgtctggttgatgcac	8	13	10	10	0	4	1	1	1	3	0	5	1	4	1	1	2	1	5	1	2	3	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.4106G>C	p.Gly1369Ala	p.G1369A	ENST00000413689	23/28	626	593	33	359	359	0	strelka-varscan-mutect	SCN5A,missense_variant,p.Gly1369Ala,ENST00000413689,NM_001099404.1;SCN5A,missense_variant,p.Gly1369Ala,ENST00000333535,NM_198056.2;SCN5A,missense_variant,p.Gly1369Ala,ENST00000425664,NM_001099405.1;SCN5A,missense_variant,p.Gly1368Ala,ENST00000423572,NM_000335.4;SCN5A,missense_variant,p.Gly1315Ala,ENST00000451551,NM_001160161.1;SCN5A,missense_variant,p.Gly1369Ala,ENST00000414099,;SCN5A,missense_variant,p.Gly1368Ala,ENST00000455624,NM_001160160.1;SCN5A,missense_variant,p.Gly1315Ala,ENST00000450102,;SCN5A,missense_variant,p.Gly1315Ala,ENST00000449557,;	G	ENST00000413689	Transcript	missense_variant	4300/8504	4106/6051	1369/2016	G/A	gGa/gCa		1		-1	SCN5A	HGNC	HGNC:10593	protein_coding	YES	CCDS46799.1	ENSP00000410257		H9KVD2	UPI0001572CC8	NM_001099404.1	tolerated(0.1)		23/28		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF206																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	48	38560286	38560286	C	G	1	0	0	0	0	1	0	0	0	14191	855	30	4		4	SCN5A	3	38560286	Missense_Mutation	SNP	C	C3N-00545_TP	21549897	38560286	159735273	74	15019											
PTPN23	0	.	GRCh38	chr3	47408370	47408370	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcatggattcaatgcagttgGatcccgagacggtggacaac	11	9	12	9	2	2	1	2	0	0	1	3	5	3	4	1	4	2	2	1	4	2	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1210G>C	p.Asp404His	p.D404H	ENST00000265562	15/25	240	221	19	129	128	1	strelka-varscan-mutect	PTPN23,missense_variant,p.Asp404His,ENST00000265562,NM_001304482.1,NM_015466.3;PTPN23,downstream_gene_variant,,ENST00000456221,;PTPN23,3_prime_UTR_variant,,ENST00000602307,;PTPN23,downstream_gene_variant,,ENST00000477276,;PTPN23,upstream_gene_variant,,ENST00000495653,;	C	ENST00000265562	Transcript	missense_variant	1287/5244	1210/4911	404/1636	D/H	Gat/Cat		1		1	PTPN23	HGNC	HGNC:14406	protein_coding	YES	CCDS2754.1	ENSP00000265562	Q9H3S7		UPI000006EBC4	NM_001304482.1,NM_015466.3	deleterious(0)		15/25																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	48	47408370	47408370	G	C	1	0	0	0	0	1	0	0	0	12942	1174	41	4		4	PTPN23	3	47408370	Missense_Mutation	SNP	G	C3N-00545_TP	8848084	47408370	150887189	75	15020											
DCAF1	0	.	GRCh38	chr3	51420897	51420898	+	Frame_Shift_Ins	INS	-	-	C																															tggatattcggttatctgggINSccacacacacaattgatgat																								novel		C3N-00545_TP	C3N-00545_NB	-	-																c.2072dupG	p.Asp693ArgfsTer2	p.D693Rfs*2	ENST00000423656	14/25	329	298	31	135	135	0	sindel-varindel-pindel	DCAF1,frameshift_variant,p.Asp692ArgfsTer2,ENST00000504652,NM_001171904.1;DCAF1,frameshift_variant,p.Asp693ArgfsTer2,ENST00000423656,NM_014703.2;DCAF1,frameshift_variant,p.Asp244ArgfsTer2,ENST00000335891,;	C	ENST00000423656	Transcript	frameshift_variant	2202-2203/5946	2072-2073/4524	691/1507	G/GX	ggc/ggGc		1		-1	DCAF1	HGNC	HGNC:30911	protein_coding	YES	CCDS74943.1	ENSP00000393183	Q9Y4B6		UPI00000716AC	NM_014703.2			14/25		hmmpanther:PTHR13129,hmmpanther:PTHR13129:SF4,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	HIGH	1	insertion	5			1										PASS		.	.												C	7	5	48	51420897	51420897	-	C	1	0	1	1	0	0	0	0	0	4061	1190	42	0		0	DCAF1	3	51420897	Frame_Shift_Ins	INS	-	C3N-00545_TP	4012527	51420897	146874662	76	15021											
CNTN3	0	.	GRCh38	chr3	74301669	74301669	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgacggtttgccaaccCacggagaaaggtgtccgagc	9	8	14	10	3	0	2	0	1	0	1	1	4	1	2	3	3	3	2	3	3	2	2			C3N-00545_TP	C3N-00545_NB	C	C																c.1923G>T	p.=	p.V641V	ENST00000263665	14/22	191	164	27	73	73	0	strelka-varscan-mutect	CNTN3,synonymous_variant,p.=,ENST00000263665,NM_020872.2;	A	ENST00000263665	Transcript	synonymous_variant	1951/4948	1923/3087	641/1028	V	gtG/gtT	COSM335646	1		-1	CNTN3	HGNC	HGNC:2173	protein_coding	YES	CCDS33790.1	ENSP00000263665	Q9P232		UPI00001A7974	NM_020872.2			14/22		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF695,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	48	74301669	74301669	C	A	1	0	0	0	0	0	0	0	1	3423	581	21	2		2	CNTN3	3	74301669	Silent	SNP	C	C3N-00545_TP	22880772	74301669	123993890	77	15022											
EPHA6	0	.	GRCh38	chr3	97483943	97483943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttgcagtgcgcttccCgggaattaaaacttacattg	9	14	10	8	2	0	0	0	0	0	0	1	1	1	1	1	1	4	4	1	1	4	6	rs368616119		C3N-00545_TP	C3N-00545_NB	C	C																c.2084C>T	p.Pro695Leu	p.P695L	ENST00000389672	10/18	134	125	9	28	28	0	strelka-mutect	EPHA6,missense_variant,p.Pro695Leu,ENST00000389672,NM_001080448.2;EPHA6,missense_variant,p.Pro87Leu,ENST00000514100,NM_001278300.1;EPHA6,missense_variant,p.Pro87Leu,ENST00000502694,NM_173655.3;EPHA6,missense_variant,p.Pro61Leu,ENST00000477384,;EPHA6,missense_variant,p.Pro87Leu,ENST00000503760,;EPHA6,missense_variant,p.Pro61Leu,ENST00000508345,;RP11-529P9.1,upstream_gene_variant,,ENST00000381974,;	T	ENST00000389672	Transcript	missense_variant	2122/3971	2084/3393	695/1130	P/L	cCg/cTg	rs368616119,COSM4158678,COSM4158679,COSM4158680,COSM5608414,COSM5608415,COSM5608416,COSM5608417	1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2	deleterious(0.02)		10/18		Pfam_domain:PF14575,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364											0,1,1,1,1,1,1,1						MODERATE	1	SNV	2		0,1,1,1,1,1,1,1	1										PASS		rs368616119	.												T	3	4	48	97483943	97483943	C	T	1	0	0	0	0	1	0	0	0	5018	652	23	1		1	EPHA6	3	97483943	Missense_Mutation	SNP	C	C3N-00545_TP	23182274	97483943	100811616	78	15023											
OR5AC2	0	.	GRCh38	chr3	98087406	98087406	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgcttgtacttcaacctcTataacccctaggatgctggt	9	13	8	11	0	2	0	1	0	1	0	2	2	2	1	3	2	5	3	3	2	5	6	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.234T>C	p.=	p.S78S	ENST00000358642	1/1	207	194	13	80	80	0	strelka-varscan-mutect	OR5AC2,synonymous_variant,p.=,ENST00000358642,NM_054106.1;	C	ENST00000358642	Transcript	synonymous_variant	234/930	234/930	78/309	S	tcT/tcC		1		1	OR5AC2	HGNC	HGNC:15431	protein_coding	YES	CCDS33796.1	ENSP00000351466	Q9NZP5		UPI0000441EFD	NM_054106.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF96,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												C	2	2	48	98087406	98087406	T	C	1	0	0	0	0	0	0	0	1	11213	1509	53	5		5	OR5AC2	3	98087406	Silent	SNP	T	C3N-00545_TP	603463	98087406	100208153	79	15024											
OR5H1	0	.	GRCh38	chr3	98133485	98133485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcatttatgtgggccctgCatctccgcaagcagatgatc	8	12	9	12	1	2	2	1	1	1	1	4	2	2	2	2	1	2	3	2	1	2	3	rs140293806		C3N-00545_TP	C3N-00545_NB	C	C																c.788C>A	p.Ala263Glu	p.A263E	ENST00000354565	1/1	515	471	44	132	132	0	strelka-varscan-mutect	OR5H1,missense_variant,p.Ala263Glu,ENST00000354565,NM_001005338.1;RP11-343D2.11,intron_variant,,ENST00000508964,;	A	ENST00000354565	Transcript	missense_variant	788/942	788/942	263/313	A/E	gCa/gAa	rs140293806	1		1	OR5H1	HGNC	HGNC:8346	protein_coding	YES	CCDS33797.1	ENSP00000346575	A6NKK0	A0A126GW79	UPI0000197652	NM_001005338.1	tolerated(0.07)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs140293806	.												A	3	1	48	98133485	98133485	C	A	1	0	0	0	0	1	0	0	0	11229	710	25	2		2	OR5H1	3	98133485	Missense_Mutation	SNP	C	C3N-00545_TP	46079	98133485	100162074	80	15025											
IMPG2	0	.	GRCh38	chr3	101242769	101242769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaagtcttccagaatcaTgtacaccgcattgttgacgt	13	11	7	10	2	2	2	1	1	1	1	3	2	3	2	2	0	1	3	2	0	4	4	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.2941A>G	p.Met981Val	p.M981V	ENST00000193391	14/19	753	680	73	319	319	0	strelka-varscan-mutect	IMPG2,missense_variant,p.Met981Val,ENST00000193391,NM_016247.3;	C	ENST00000193391	Transcript	missense_variant	3129/8337	2941/3726	981/1241	M/V	Atg/Gtg		1		-1	IMPG2	HGNC	HGNC:18362	protein_coding	YES	CCDS2940.1	ENSP00000193391	Q9BZV3	F1T0J3	UPI000013C605	NM_016247.3	tolerated(0.16)		14/19		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR12199,hmmpanther:PTHR12199:SF4,SMART_domains:SM00200																	MODERATE	1	SNV	1			1										PASS		rs926472701	.												C	3	2	48	101242769	101242769	T	C	1	0	0	0	0	1	0	0	0	7631	1464	51	5		5	IMPG2	3	101242769	Missense_Mutation	SNP	T	C3N-00545_TP	3109284	101242769	97052790	81	15026											
STXBP5L	0	.	GRCh38	chr3	121041749	121041749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaacatgaaagtggtgcaGctgtcctacagctccaattt	11	10	9	11	0	0	1	0	1	0	0	2	1	2	1	3	1	5	3	3	1	4	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.337G>A	p.Ala113Thr	p.A113T	ENST00000273666	4/28	354	325	29	70	70	0	strelka-varscan-mutect	STXBP5L,missense_variant,p.Ala113Thr,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Ala113Thr,ENST00000471454,NM_001308330.1;STXBP5L,missense_variant,p.Ala113Thr,ENST00000471262,;STXBP5L,missense_variant,p.Ala113Thr,ENST00000492541,;STXBP5L,missense_variant,p.Ala113Thr,ENST00000472879,;STXBP5L,missense_variant,p.Ala113Thr,ENST00000497029,;STXBP5L,missense_variant,p.Ala113Thr,ENST00000495504,;STXBP5L,3_prime_UTR_variant,,ENST00000461772,;	A	ENST00000273666	Transcript	missense_variant	608/9496	337/3561	113/1186	A/T	Gct/Act		1		1	STXBP5L	HGNC	HGNC:30757	protein_coding	YES	CCDS43137.1	ENSP00000273666	Q9Y2K9		UPI00001C1DEA	NM_014980.2	deleterious(0)		4/28		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		rs987723386	.												A	3	1	48	121041749	121041749	G	A	1	0	0	0	0	1	0	0	0	15741	971	34	3		3	STXBP5L	3	121041749	Missense_Mutation	SNP	G	C3N-00545_TP	19798980	121041749	77253810	82	15027											
STXBP5L	0	.	GRCh38	chr3	121419066	121419066	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttgcagttaatgctgaAatacaaggataagaaatggt	15	13	9	4	0	1	2	0	1	1	1	1	3	1	3	0	2	3	3	0	2	6	5	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.3530A>C	p.Lys1177Thr	p.K1177T	ENST00000273666	28/28	175	152	23	16	16	0	strelka-mutect	STXBP5L,missense_variant,p.Lys1177Thr,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Lys1153Thr,ENST00000471454,NM_001308330.1;STXBP5L,missense_variant,p.Lys1120Thr,ENST00000471262,;	C	ENST00000273666	Transcript	missense_variant	3801/9496	3530/3561	1177/1186	K/T	aAa/aCa		1		1	STXBP5L	HGNC	HGNC:30757	protein_coding	YES	CCDS43137.1	ENSP00000273666	Q9Y2K9		UPI00001C1DEA	NM_014980.2	deleterious(0)		28/28		PROSITE_profiles:PS50892,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Gene3D:1.20.5.110,Superfamily_domains:SSF58038																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	48	121419066	121419066	A	C	1	0	0	0	0	1	0	0	0	15741	14	1	5		5	STXBP5L	3	121419066	Missense_Mutation	SNP	A	C3N-00545_TP	377317	121419066	76876493	83	15028											
SEMA5B	0	.	GRCh38	chr3	122912296	122912296	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtgacccccaccacaggaAgctgagcatggagaccatga	13	5	11	12	0	0	4	0	3	0	1	0	6	0	5	4	2	2	2	4	2	2	1	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.2934T>A	p.=	p.A978A	ENST00000451055	19/23	168	157	11	79	79	0	strelka-varscan-mutect	SEMA5B,synonymous_variant,p.=,ENST00000616742,NM_001256346.1;SEMA5B,synonymous_variant,p.=,ENST00000357599,NM_001031702.3;SEMA5B,synonymous_variant,p.=,ENST00000451055,NM_001256347.1;SEMA5B,synonymous_variant,p.=,ENST00000393583,;SEMA5B,intron_variant,,ENST00000195173,NM_001256348.1;SEMA5B,upstream_gene_variant,,ENST00000451541,;SEMA5B,synonymous_variant,p.=,ENST00000475244,;	T	ENST00000451055	Transcript	synonymous_variant	2945/4579	2934/3618	978/1205	A	gcT/gcA		1		-1	SEMA5B	HGNC	HGNC:10737	protein_coding	YES	CCDS58848.1	ENSP00000389588	Q9P283		UPI0002065011	NM_001256347.1			19/23		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF39,SMART_domains:SM00209,Superfamily_domains:SSF82895																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	48	122912296	122912296	A	T	1	0	0	0	0	0	0	0	1	14314	59	3	4		4	SEMA5B	3	122912296	Silent	SNP	A	C3N-00545_TP	1493230	122912296	75383263	84	15029											
COL6A6	0	.	GRCh38	chr3	130565261	130565261	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaggcctatactggagCtgccatcaaaaagctcagga	13	7	12	9	0	2	0	2	0	0	0	2	3	2	3	2	4	4	2	2	4	5	2	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.929C>A	p.Ala310Asp	p.A310D	ENST00000358511	3/36	445	408	37	264	264	0	strelka-varscan-mutect	COL6A6,missense_variant,p.Ala310Asp,ENST00000358511,NM_001102608.1;	A	ENST00000358511	Transcript	missense_variant	960/9581	929/6792	310/2263	A/D	gCt/gAt		1		1	COL6A6	HGNC	HGNC:27023	protein_coding	YES	CCDS46911.1	ENSP00000351310	A6NMZ7		UPI00015B6548	NM_001102608.1	deleterious(0)		3/36		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF61,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	48	130565261	130565261	C	A	1	0	0	0	0	1	0	0	0	3492	797	28	2		2	COL6A6	3	130565261	Missense_Mutation	SNP	C	C3N-00545_TP	7652965	130565261	67730298	85	15030											
COL6A6	0	.	GRCh38	chr3	130610708	130610708	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgtgggaagtaaaggtccCcaggtatgtaatgagaaaaa	15	8	14	4	0	0	1	0	1	0	1	1	3	1	2	2	4	0	3	2	4	7	3	rs758930548		C3N-00545_TP	C3N-00545_NB	C	C																c.4812C>G	p.=	p.P1604P	ENST00000358511	22/36	215	192	23	36	36	0	strelka-varscan-mutect	COL6A6,synonymous_variant,p.=,ENST00000358511,NM_001102608.1;COL6A6,3_prime_UTR_variant,,ENST00000506143,;	G	ENST00000358511	Transcript	synonymous_variant	4843/9581	4812/6792	1604/2263	P	ccC/ccG	rs758930548	1		1	COL6A6	HGNC	HGNC:27023	protein_coding	YES	CCDS46911.1	ENSP00000351310	A6NMZ7		UPI00015B6548	NM_001102608.1			22/36		hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF61,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs758930548	.												G	2	3	48	130610708	130610708	C	G	1	0	0	0	0	0	0	0	1	3492	637	22	4		4	COL6A6	3	130610708	Silent	SNP	C	C3N-00545_TP	45447	130610708	67684851	86	15031											
PIK3R4	0	.	GRCh38	chr3	130744736	130744736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaaaatcagttagaagaacCcaattccaactggtgaccat	16	8	7	10	0	1	3	1	1	0	2	2	3	2	3	3	1	2	2	3	1	7	2	rs776096343		C3N-00545_TP	C3N-00545_NB	C	C																c.483G>T	p.Trp161Cys	p.W161C	ENST00000356763	2/20	465	402	63	235	233	2	strelka-varscan-mutect	PIK3R4,missense_variant,p.Trp161Cys,ENST00000356763,NM_014602.2;	A	ENST00000356763	Transcript	missense_variant	1041/5015	483/4077	161/1358	W/C	tgG/tgT	rs776096343	1		-1	PIK3R4	HGNC	HGNC:8982	protein_coding	YES	CCDS3067.1	ENSP00000349205	Q99570		UPI0000071EF3	NM_014602.2	deleterious(0)		2/20		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR17583,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs776096343	.												A	3	1	48	130744736	130744736	C	A	1	0	0	0	0	1	0	0	0	12016	624	22	2		2	PIK3R4	3	130744736	Missense_Mutation	SNP	C	C3N-00545_TP	134028	130744736	67550823	87	15032											
CPA3	0	.	GRCh38	chr3	148878445	148878445	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcccctgtcaaacagaatcTtgattcatgatctacaagaa	14	12	5	10	0	4	4	2	2	2	2	5	4	5	4	2	0	2	0	2	0	5	4	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.274T>C	p.=	p.L92L	ENST00000296046	4/11	264	246	18	31	31	0	strelka-mutect	CPA3,synonymous_variant,p.=,ENST00000296046,NM_001870.2;RP11-680B3.2,intron_variant,,ENST00000488190,;CPA3,upstream_gene_variant,,ENST00000477926,;	C	ENST00000296046	Transcript	synonymous_variant	326/1795	274/1254	92/417	L	Ttg/Ctg		1		1	CPA3	HGNC	HGNC:2298	protein_coding	YES	CCDS3138.1	ENSP00000296046	P15088		UPI000013E2F4	NM_001870.2			4/11		Gene3D:3.30.70.340,Pfam_domain:PF02244,hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF65,Superfamily_domains:SSF54897																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	48	148878445	148878445	T	C	1	0	0	0	0	0	0	0	1	3585	1623	56	5		5	CPA3	3	148878445	Silent	SNP	T	C3N-00545_TP	18133709	148878445	49417114	88	15033											
SI	0	.	GRCh38	chr3	165062436	165062436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtaaaaatccagaatgcCaccggtaactctatatgtta	15	11	7	8	1	1	1	0	0	1	1	2	2	2	1	3	1	2	3	3	1	8	5	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.955G>T	p.Gly319Cys	p.G319C	ENST00000264382	9/48	239	224	15	46	46	0	strelka-mutect	SI,missense_variant,p.Gly319Cys,ENST00000264382,NM_001041.3;	A	ENST00000264382	Transcript	missense_variant	1018/6011	955/5484	319/1827	G/C	Ggc/Tgc		1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	deleterious(0)		9/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66,Superfamily_domains:SSF74650																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	165062436	165062436	C	A	1	0	0	0	0	1	0	0	0	14561	594	21	2		2	SI	3	165062436	Missense_Mutation	SNP	C	C3N-00545_TP	16183991	165062436	33233123	89	15034											
CRYGS	0	.	GRCh38	chr3	186539423	186539423	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctggtattcagggtactCtccctgtggtaagatgtaca	9	12	11	9	1	2	1	1	0	1	1	3	1	2	1	1	3	2	5	1	3	4	5	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.196G>T	p.Glu66Ter	p.E66*	ENST00000392499	3/4	569	508	61	402	402	0	strelka-varscan-mutect	CRYGS,stop_gained,p.Glu66Ter,ENST00000392499,;CRYGS,stop_gained,p.Glu66Ter,ENST00000307944,NM_017541.2;CRYGS,non_coding_transcript_exon_variant,,ENST00000460288,;	A	ENST00000392499	Transcript	stop_gained	536/1132	196/537	66/178	E/*	Gag/Tag		1		-1	CRYGS	HGNC	HGNC:2417	protein_coding	YES	CCDS3275.1	ENSP00000376287	P22914	A0A140CTX8	UPI000013EC82				3/4		Gene3D:2.60.20.10,Pfam_domain:PF00030,Prints_domain:PR01367,PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF6,SMART_domains:SM00247,Superfamily_domains:SSF49695																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	48	186539423	186539423	C	A	1	0	0	0	0	0	1	0	0	3721	922	32	2		2	CRYGS	3	186539423	Nonsense_Mutation	SNP	C	C3N-00545_TP	21476987	186539423	11756136	90	15035											
KNG1	0	.	GRCh38	chr3	186732656	186732656	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttcaagattgacaatgtGaaaaaagcaagagtacaggt	18	10	9	4	0	1	4	1	2	0	2	1	4	1	4	0	1	2	2	0	1	8	4	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.912G>T	p.=	p.V304V	ENST00000265023	7/10	475	432	43	162	162	0	strelka-varscan-mutect	KNG1,synonymous_variant,p.=,ENST00000265023,NM_001102416.2;KNG1,synonymous_variant,p.=,ENST00000287611,NM_000893.3;KNG1,synonymous_variant,p.=,ENST00000447445,NM_001166451.1;RP11-573D15.8,intron_variant,,ENST00000627551,;RP11-573D15.8,intron_variant,,ENST00000630864,;RP11-573D15.8,intron_variant,,ENST00000625303,;RP11-573D15.8,intron_variant,,ENST00000629106,;RP11-573D15.8,intron_variant,,ENST00000627830,;RP11-573D15.8,intron_variant,,ENST00000625710,;RP11-573D15.8,intron_variant,,ENST00000628253,;RP11-573D15.8,intron_variant,,ENST00000354642,;RP11-573D15.8,intron_variant,,ENST00000599314,;RP11-573D15.8,intron_variant,,ENST00000628601,;RP11-573D15.8,intron_variant,,ENST00000630178,;RP11-573D15.8,intron_variant,,ENST00000628858,;RP11-573D15.8,intron_variant,,ENST00000628505,;RP11-573D15.8,intron_variant,,ENST00000627015,;RP11-573D15.8,intron_variant,,ENST00000625741,;RP11-573D15.8,intron_variant,,ENST00000627268,;RP11-573D15.8,intron_variant,,ENST00000626845,;RP11-573D15.8,intron_variant,,ENST00000629451,;RP11-573D15.8,intron_variant,,ENST00000627469,;RP11-573D15.8,intron_variant,,ENST00000627919,;RP11-573D15.8,intron_variant,,ENST00000626151,;RP11-573D15.8,intron_variant,,ENST00000628190,;RP11-573D15.8,intron_variant,,ENST00000625386,;RP11-573D15.8,intron_variant,,ENST00000630331,;RP11-573D15.8,intron_variant,,ENST00000628728,;RP11-573D15.8,intron_variant,,ENST00000626633,;RP11-573D15.8,intron_variant,,ENST00000625839,;RP11-573D15.8,downstream_gene_variant,,ENST00000629126,;RP11-573D15.8,downstream_gene_variant,,ENST00000628020,;RP11-573D15.8,downstream_gene_variant,,ENST00000628831,;RP11-573D15.8,downstream_gene_variant,,ENST00000629734,;RP11-573D15.8,downstream_gene_variant,,ENST00000626306,;	T	ENST00000265023	Transcript	synonymous_variant	1124/3435	912/1935	304/644	V	gtG/gtT		1		1	KNG1	HGNC	HGNC:6383	protein_coding	YES	CCDS43183.1	ENSP00000265023	P01042		UPI000013D5AC	NM_001102416.2			7/10		PROSITE_profiles:PS51647,Pfam_domain:PF00031,Gene3D:3.10.450.10,SMART_domains:SM00043,Superfamily_domains:SSF54403																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	48	186732656	186732656	G	T	1	0	0	0	0	0	0	0	1	8305	1277	45	2		2	KNG1	3	186732656	Silent	SNP	G	C3N-00545_TP	193233	186732656	11562903	91	15036											
LRRC15	0	.	GRCh38	chr3	194360739	194360739	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggctgagatagcgcagcGagcccaggtttcggaaggcc	9	5	16	11	4	0	1	0	1	0	1	1	5	0	2	2	4	3	3	2	4	2	2	rs755593413		C3N-00545_TP	C3N-00545_NB	G	G																c.323C>A	p.Ser108Ter	p.S108*	ENST00000428839	3/3	585	528	57	337	337	0	strelka-varscan-mutect	LRRC15,stop_gained,p.Ser102Ter,ENST00000347624,NM_130830.4;LRRC15,stop_gained,p.Ser108Ter,ENST00000428839,NM_001135057.2;	T	ENST00000428839	Transcript	stop_gained	436/3248	323/1764	108/587	S/*	tCg/tAg	rs755593413,COSM3334020,COSM3334021	1		-1	LRRC15	HGNC	HGNC:20818	protein_coding	YES	CCDS46984.1	ENSP00000413707	Q8TF66		UPI000153D75D	NM_001135057.2			3/3		PROSITE_profiles:PS51450,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058											0,1,1						HIGH	1	SNV	1		0,1,1	1										PASS		rs755593413	.												T	4	4	48	194360739	194360739	G	T	1	0	0	0	0	0	1	0	0	8866	1059	37	1		1	LRRC15	3	194360739	Nonsense_Mutation	SNP	G	C3N-00545_TP	7628083	194360739	3934820	92	15037											
MUC4	0	.	GRCh38	chr3	195780811	195780811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgtggatactgaggaaGcgtcggtgacaagaagaggg	12	6	17	6	2	0	4	0	2	0	2	1	7	0	6	1	4	2	0	1	4	4	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.10769C>A	p.Ala3590Asp	p.A3590D	ENST00000463781	2/25	593	562	31	443	443	0	varscan-mutect	MUC4,missense_variant,p.Ala3590Asp,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala3590Asp,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala3590Asp,ENST00000478156,;MUC4,missense_variant,p.Ala3590Asp,ENST00000466475,;MUC4,missense_variant,p.Ala3590Asp,ENST00000477756,;MUC4,missense_variant,p.Ala3590Asp,ENST00000477086,;MUC4,missense_variant,p.Ala3590Asp,ENST00000480843,;MUC4,missense_variant,p.Ala3590Asp,ENST00000462323,;MUC4,missense_variant,p.Ala3590Asp,ENST00000470451,;MUC4,missense_variant,p.Ala3590Asp,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	T	ENST00000463781	Transcript	missense_variant	11229/17110	10769/16239	3590/5412	A/D	gCt/gAt		1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	deleterious_low_confidence(0.02)		2/25																			MODERATE	1	SNV	5			1										PASS		rs1253668125	.												T	3	4	48	195780811	195780811	G	T	1	0	0	0	0	1	0	0	0	9977	971	34	2		2	MUC4	3	195780811	Missense_Mutation	SNP	G	C3N-00545_TP	1420072	195780811	2514748	93	15038											
OTOP1	0	.	GRCh38	chr4	4226853	4226853	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgaggcgggcgaccccagGccctcgagcatcttcgagac	7	4	15	15	5	1	1	0	0	1	1	3	5	1	1	3	4	1	1	3	4	0	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.12C>A	p.=	p.G4G	ENST00000296358	1/6	39	33	6	15	15	0	strelka-mutect	OTOP1,synonymous_variant,p.=,ENST00000296358,NM_177998.1;	T	ENST00000296358	Transcript	synonymous_variant	37/1864	12/1839	4/612	G	ggC/ggA		1		-1	OTOP1	HGNC	HGNC:19656	protein_coding	YES	CCDS3372.1	ENSP00000296358	Q7RTM1		UPI0000186945	NM_177998.1			1/6																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	4226853	4226853	G	T	1	0	0	0	0	0	0	0	1	11373	1190	42	2		2	OTOP1	4	4226853	Silent	SNP	G	C3N-00545_TP		4226853	185987702	94	15039											
SPATA18	0	.	GRCh38	chr4	52084929	52084929	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttttaagtggaattcggtgcGatctgtaagtcgttgtcgaa	9	15	12	5	4	1	0	0	0	1	0	4	3	1	1	0	2	1	2	0	2	4	5	rs748597597		C3N-00545_TP	C3N-00545_NB	G	G																c.1493G>C	p.Arg498Pro	p.R498P	ENST00000295213	11/13	259	227	32	128	128	0	strelka-varscan	SPATA18,missense_variant,p.Arg498Pro,ENST00000295213,NM_145263.3;SPATA18,missense_variant,p.Arg466Pro,ENST00000419395,NM_001297608.1;SPATA18,missense_variant,p.Asp515His,ENST00000505320,;SPATA18,downstream_gene_variant,,ENST00000511028,;	C	ENST00000295213	Transcript	missense_variant	1867/4396	1493/1617	498/538	R/P	cGa/cCa	rs748597597,COSM1227263,COSM1227264	1		1	SPATA18	HGNC	HGNC:29579	protein_coding	YES	CCDS3489.1	ENSP00000295213	Q8TC71	A0A140VKF4	UPI000006FB0D	NM_145263.3	deleterious(0)		11/13		hmmpanther:PTHR21771,hmmpanther:PTHR21771:SF0,Low_complexity_(Seg):seg											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		.	.												C	3	2	48	52084929	52084929	G	C	1	0	0	0	0	1	0	0	0	15333	1058	37	4		4	SPATA18	4	52084929	Missense_Mutation	SNP	G	C3N-00545_TP	47858076	52084929	138129626	95	15040											
ADGRL3	0	.	GRCh38	chr4	61587432	61587432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgcctataagattatGtctcaaaggtatgatacttc	13	13	7	8	0	1	3	1	1	1	2	3	3	1	3	2	1	2	1	2	1	6	6	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.261G>T	p.Met87Ile	p.M87I	ENST00000514591	4/25	123	106	17	74	74	0	strelka-varscan	ADGRL3,missense_variant,p.Met87Ile,ENST00000512091,NM_001322246.1;ADGRL3,missense_variant,p.Met87Ile,ENST00000514591,NM_015236.4;ADGRL3,missense_variant,p.Met155Ile,ENST00000509896,;ADGRL3,missense_variant,p.Met155Ile,ENST00000511324,;ADGRL3,missense_variant,p.Met155Ile,ENST00000508693,;ADGRL3,missense_variant,p.Met155Ile,ENST00000507164,;ADGRL3,missense_variant,p.Met155Ile,ENST00000506720,;ADGRL3,missense_variant,p.Met155Ile,ENST00000506746,;ADGRL3,missense_variant,p.Met155Ile,ENST00000507625,;ADGRL3,missense_variant,p.Met87Ile,ENST00000506700,;ADGRL3,missense_variant,p.Met87Ile,ENST00000504896,;ADGRL3,missense_variant,p.Met87Ile,ENST00000514157,;ADGRL3,missense_variant,p.Met87Ile,ENST00000508946,;ADGRL3,missense_variant,p.Met87Ile,ENST00000514996,;ADGRL3,non_coding_transcript_exon_variant,,ENST00000509089,;	T	ENST00000514591	Transcript	missense_variant	590/6297	261/4410	87/1469	M/I	atG/atT		1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4	tolerated(0.14)		4/25		PROSITE_profiles:PS50228,hmmpanther:PTHR12011:SF60,hmmpanther:PTHR12011,Pfam_domain:PF02140,Prints_domain:PR01444																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	48	61587432	61587432	G	T	1	0	0	0	0	1	0	0	0	377	1377	48	2		2	ADGRL3	4	61587432	Missense_Mutation	SNP	G	C3N-00545_TP	9502503	61587432	128627123	96	15041											
UGT2B17	0	.	GRCh38	chr4	68568097	68568097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttgttcaaaactgcatCttcacagagctttatattat	11	18	4	8	0	4	1	2	0	2	1	4	1	4	1	0	0	3	3	0	0	5	8	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.388G>A	p.Asp130Asn	p.D130N	ENST00000317746	1/6	165	137	28	72	72	0	strelka-varscan	UGT2B17,missense_variant,p.Asp130Asn,ENST00000317746,NM_001077.3;	T	ENST00000317746	Transcript	missense_variant	431/2077	388/1593	130/530	D/N	Gat/Aat		1		-1	UGT2B17	HGNC	HGNC:12547	protein_coding	YES	CCDS3523.1	ENSP00000320401	O75795		UPI0000137A9C	NM_001077.3	tolerated(0.23)		1/6		Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF178,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	68568097	68568097	C	T	1	0	0	0	0	1	0	0	0	17483	913	32	3		3	UGT2B17	4	68568097	Missense_Mutation	SNP	C	C3N-00545_TP	6980665	68568097	121646458	97	15042											
ANK2	0	.	GRCh38	chr4	113356994	113356994	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcctgtctcttcaggTctacagagtccgactggtga	6	12	11	12	1	3	2	1	1	2	1	6	3	5	2	2	2	2	2	2	2	1	2	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.8376T>C	p.=	p.G2792G	ENST00000357077	38/46	379	343	36	196	196	0	strelka-varscan	ANK2,synonymous_variant,p.=,ENST00000357077,NM_001148.4;ANK2,synonymous_variant,p.=,ENST00000264366,;ANK2,synonymous_variant,p.=,ENST00000612754,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;	C	ENST00000357077	Transcript	synonymous_variant	8429/14196	8376/11874	2792/3957	G	ggT/ggC		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4			38/46																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	48	113356994	113356994	T	C	1	0	0	0	0	0	0	0	1	721	1654	58	5		5	ANK2	4	113356994	Silent	SNP	T	C3N-00545_TP	44788897	113356994	76857561	98	15043											
SH3D19	0	.	GRCh38	chr4	151174768	151174768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagatcgatgtccaccaagGgcttgctctgcagaactgga	10	9	12	10	1	1	2	0	1	1	2	3	5	2	3	2	2	3	3	2	2	2	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.596C>T	p.Pro199Leu	p.P199L	ENST00000304527	7/21	45	41	4	23	23	0	strelka-mutect	SH3D19,missense_variant,p.Pro199Leu,ENST00000409598,NM_001128923.1;SH3D19,missense_variant,p.Pro199Leu,ENST00000304527,NM_001009555.3;SH3D19,missense_variant,p.Pro479Leu,ENST00000604030,;SH3D19,missense_variant,p.Pro199Leu,ENST00000514152,NM_001243349.1;SH3D19,missense_variant,p.Pro199Leu,ENST00000409252,;SH3D19,missense_variant,p.Pro199Leu,ENST00000427414,NM_001128924.1;SH3D19,missense_variant,p.Pro176Leu,ENST00000462257,;SH3D19,downstream_gene_variant,,ENST00000474743,;SH3D19,downstream_gene_variant,,ENST00000514013,;SH3D19,downstream_gene_variant,,ENST00000604440,;	A	ENST00000304527	Transcript	missense_variant	1686/5273	596/2373	199/790	P/L	cCc/cTc		1		-1	SH3D19	HGNC	HGNC:30418	protein_coding	YES	CCDS34077.2	ENSP00000302913	Q5HYK7		UPI0000251D9A	NM_001009555.3	tolerated(0.43)		7/21																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	48	151174768	151174768	G	A	1	0	0	0	0	1	0	0	0	14507	1232	43	3		3	SH3D19	4	151174768	Missense_Mutation	SNP	G	C3N-00545_TP	37817774	151174768	39039787	99	15044											
CLCN3	0	.	GRCh38	chr4	169697381	169697381	+	Missense_Mutation	SNP	G	G	C																															gggtatttggagggctttggGgagcctttttcattagggca																								rs199942294		C3N-00545_TP	C3N-00545_NB	G	G																c.1210G>C	p.Gly404Arg	p.G404R	ENST00000347613	9/14	236	219	17	90	90	0	strelka-varscan	CLCN3,missense_variant,p.Gly404Arg,ENST00000513761,NM_001829.3;CLCN3,missense_variant,p.Gly377Arg,ENST00000613795,NM_001243374.1;CLCN3,missense_variant,p.Gly387Arg,ENST00000504131,;CLCN3,missense_variant,p.Gly404Arg,ENST00000347613,NM_173872.3;CLCN3,missense_variant,p.Gly377Arg,ENST00000360642,NM_001243372.1;CLCN3,missense_variant,p.Gly377Arg,ENST00000507875,;CLCN3,missense_variant,p.Gly59Arg,ENST00000515420,;	C	ENST00000347613	Transcript	missense_variant	1764/3635	1210/2601	404/866	G/R	Gga/Cga	rs199942294	1		1	CLCN3	HGNC	HGNC:2021	protein_coding	YES	CCDS34100.1	ENSP00000261514	P51790		UPI000015F952	NM_173872.3	deleterious(0)		9/14		Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF85,Superfamily_domains:SSF81340,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	48	169697381	169697381	G	C	1	0	0	0	0	1	0	0	0	3228	1233	43	4		4	CLCN3	4	169697381	Missense_Mutation	SNP	G	C3N-00545_TP	18522613	169697381	20517174	100	15045	323	2									
CLCN3	0	.	GRCh38	chr4	169697382	169697382	+	Missense_Mutation	SNP	G	G	T																															ggtatttggagggctttgggGagcctttttcattagggcaa																								novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1211G>T	p.Gly404Val	p.G404V	ENST00000347613	9/14	234	217	17	90	90	0	strelka-varscan	CLCN3,missense_variant,p.Gly404Val,ENST00000513761,NM_001829.3;CLCN3,missense_variant,p.Gly377Val,ENST00000613795,NM_001243374.1;CLCN3,missense_variant,p.Gly387Val,ENST00000504131,;CLCN3,missense_variant,p.Gly404Val,ENST00000347613,NM_173872.3;CLCN3,missense_variant,p.Gly377Val,ENST00000360642,NM_001243372.1;CLCN3,missense_variant,p.Gly377Val,ENST00000507875,;CLCN3,missense_variant,p.Gly59Val,ENST00000515420,;	T	ENST00000347613	Transcript	missense_variant	1765/3635	1211/2601	404/866	G/V	gGa/gTa		1		1	CLCN3	HGNC	HGNC:2021	protein_coding	YES	CCDS34100.1	ENSP00000261514	P51790		UPI000015F952	NM_173872.3	deleterious(0)		9/14		Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF85,Superfamily_domains:SSF81340,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	169697382	169697382	G	T	1	0	0	0	0	1	0	0	0	3228	1174	41	2		2	CLCN3	4	169697382	Missense_Mutation	SNP	G	C3N-00545_TP	1	169697382	20517173	101	15046	323	2									
GPM6A	0	.	GRCh38	chr4	175673770	175673770	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaagaaaccttccaccatCagcaaaatgccatacacaaa	18	6	5	12	0	1	2	1	1	0	1	2	2	2	2	4	0	4	1	4	0	6	2	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.297G>A	p.=	p.L99L	ENST00000280187	4/8	196	182	14	111	111	0	strelka-varscan	GPM6A,synonymous_variant,p.=,ENST00000280187,NM_005277.4;GPM6A,synonymous_variant,p.=,ENST00000393658,NM_201591.2;GPM6A,synonymous_variant,p.=,ENST00000506894,NM_201592.2;GPM6A,synonymous_variant,p.=,ENST00000515090,NM_001261448.1;GPM6A,synonymous_variant,p.=,ENST00000503397,;GPM6A,synonymous_variant,p.=,ENST00000513365,;GPM6A,synonymous_variant,p.=,ENST00000505561,;GPM6A,synonymous_variant,p.=,ENST00000502754,;GPM6A,synonymous_variant,p.=,ENST00000512897,;GPM6A,synonymous_variant,p.=,ENST00000512610,;GPM6A,synonymous_variant,p.=,ENST00000513667,;GPM6A,synonymous_variant,p.=,ENST00000507540,;GPM6A,synonymous_variant,p.=,ENST00000507520,;GPM6A,synonymous_variant,p.=,ENST00000512509,;GPM6A,synonymous_variant,p.=,ENST00000505375,;GPM6A,synonymous_variant,p.=,ENST00000509865,;	T	ENST00000280187	Transcript	synonymous_variant	343/2854	297/837	99/278	L	ctG/ctA		1		-1	GPM6A	HGNC	HGNC:4460	protein_coding	YES	CCDS3824.1	ENSP00000280187	P51674		UPI000012EAE1	NM_005277.4			4/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR11683,hmmpanther:PTHR11683:SF4,Pfam_domain:PF01275,Prints_domain:PR00214																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	175673770	175673770	C	T	1	0	0	0	0	0	0	0	1	6517	813	29	3		3	GPM6A	4	175673770	Silent	SNP	C	C3N-00545_TP	5976388	175673770	14540785	102	15047											
ADCY2	0	.	GRCh38	chr5	7804667	7804667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaacaggtctgagcgCtgtgcccagccaggagcact	9	5	14	13	1	1	1	0	1	1	0	1	2	1	2	2	3	6	4	2	3	1	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.2858C>T	p.Ala953Val	p.A953V	ENST00000338316	22/25	496	441	55	263	263	0	strelka-varscan-mutect	ADCY2,missense_variant,p.Ala953Val,ENST00000338316,NM_020546.2;ADCY2,non_coding_transcript_exon_variant,,ENST00000382531,;ADCY2,3_prime_UTR_variant,,ENST00000493243,;ADCY2,non_coding_transcript_exon_variant,,ENST00000489501,;	T	ENST00000338316	Transcript	missense_variant	2947/6575	2858/3276	953/1091	A/V	gCt/gTt		1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2	tolerated(0.57)		22/25		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,SMART_domains:SM00044,Superfamily_domains:SSF55073																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	7804667	7804667	C	T	1	0	0	0	0	1	0	0	0	338	797	28	3		3	ADCY2	5	7804667	Missense_Mutation	SNP	C	C3N-00545_TP		7804667	173733592	103	15048											
CTNND2	0	.	GRCh38	chr5	11098614	11098614	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttctgcagggcgcctgcCgccccttccagcgtgtctgg	4	9	13	15	3	2	0	0	0	2	0	3	0	3	0	5	2	3	2	5	2	1	2	rs779737422		C3N-00545_TP	C3N-00545_NB	C	C																c.2598G>T	p.=	p.A866A	ENST00000304623	15/22	411	356	55	175	174	1	strelka-varscan	CTNND2,synonymous_variant,p.=,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,synonymous_variant,p.=,ENST00000511377,NM_001288715.1;CTNND2,synonymous_variant,p.=,ENST00000503622,NM_001288716.1;CTNND2,5_prime_UTR_variant,,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,synonymous_variant,p.=,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	A	ENST00000304623	Transcript	synonymous_variant	2788/5481	2598/3678	866/1225	A	gcG/gcT	rs779737422,COSM1059501	1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1			15/22		Gene3D:1.25.10.10,Pfam_domain:PF00514,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,Low_complexity_(Seg):seg,SMART_domains:SM00185,Superfamily_domains:SSF48371											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												A	2	1	48	11098614	11098614	C	A	1	0	0	0	0	0	0	0	1	3829	639	23	1		1	CTNND2	5	11098614	Silent	SNP	C	C3N-00545_TP	3293947	11098614	170439645	104	15049											
CTNND2	0	.	GRCh38	chr5	11411547	11411547	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgacttactttcacctgtaGaataatcctgtgggtcaagt	10	14	9	8	0	2	2	2	1	0	1	3	2	3	2	2	1	1	1	2	1	5	4			C3N-00545_TP	C3N-00545_NB	G	G																c.428C>G	p.Ser143Cys	p.S143C	ENST00000304623	5/22	187	160	27	40	40	0	strelka-varscan	CTNND2,missense_variant,p.Ser143Cys,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Ser52Cys,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.Ser52Cys,ENST00000503622,NM_001288716.1;CTNND2,missense_variant,p.Ser129Cys,ENST00000508761,;CTNND2,missense_variant,p.Ser52Cys,ENST00000513598,;CTNND2,missense_variant,p.Ser129Cys,ENST00000502551,;CTNND2,non_coding_transcript_exon_variant,,ENST00000511278,;CTNND2,intron_variant,,ENST00000504354,;CTNND2,missense_variant,p.Ser143Cys,ENST00000513588,;CTNND2,missense_variant,p.Ser143Cys,ENST00000504499,;	C	ENST00000304623	Transcript	missense_variant	618/5481	428/3678	143/1225	S/C	tCt/tGt	COSM5627914	1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	deleterious(0.03)		5/22		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	48	11411547	11411547	G	C	1	0	0	0	0	1	0	0	0	3829	942	33	4		4	CTNND2	5	11411547	Missense_Mutation	SNP	G	C3N-00545_TP	312933	11411547	170126712	105	15050											
CDH6	0	.	GRCh38	chr5	31323017	31323017	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgaagggacattgtgccCgaagcccttttcctaccccg	8	10	9	14	3	0	0	0	0	0	0	1	3	1	1	5	1	4	0	5	1	4	5	rs764269155		C3N-00545_TP	C3N-00545_NB	C	C																c.2082C>T	p.=	p.P694P	ENST00000265071	12/12	436	385	51	283	283	0	strelka-varscan	CDH6,synonymous_variant,p.=,ENST00000265071,NM_004932.3;CDH6,downstream_gene_variant,,ENST00000514738,;CDH6,downstream_gene_variant,,ENST00000504835,;	T	ENST00000265071	Transcript	synonymous_variant	2347/8476	2082/2373	694/790	P	ccC/ccT	rs764269155,COSM1436986,COSM5279663	1		1	CDH6	HGNC	HGNC:1765	protein_coding	YES	CCDS3894.1	ENSP00000265071	P55285		UPI0000126D9B	NM_004932.3			12/12		Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF322											0,1,1						LOW	1	SNV	2		0,1,1	1										PASS		.	.												T	2	4	48	31323017	31323017	C	T	1	0	0	0	0	0	0	0	1	2817	639	23	1		1	CDH6	5	31323017	Silent	SNP	C	C3N-00545_TP	19911470	31323017	150215242	106	15051											
NPR3	0	.	GRCh38	chr5	32724751	32724751	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatcatgctggtggcgCacaggcatggcatgaccagt	9	7	15	10	1	1	1	1	1	0	0	1	2	1	2	1	5	2	5	1	5	0	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.823C>A	p.His275Asn	p.H275N	ENST00000265074	2/8	479	431	48	198	197	1	strelka-varscan	NPR3,missense_variant,p.His275Asn,ENST00000265074,NM_001204375.1;NPR3,missense_variant,p.His59Asn,ENST00000326958,NM_001204376.1;NPR3,missense_variant,p.His59Asn,ENST00000434067,;NPR3,missense_variant,p.His275Asn,ENST00000415167,NM_000908.3;NPR3,missense_variant,p.His52Asn,ENST00000509104,;NPR3,non_coding_transcript_exon_variant,,ENST00000506712,;	A	ENST00000265074	Transcript	missense_variant	1166/7344	823/1626	275/541	H/N	Cac/Aac		1		1	NPR3	HGNC	HGNC:7945	protein_coding	YES	CCDS56357.1	ENSP00000265074	P17342		UPI0000125B46	NM_001204375.1	deleterious(0.01)		2/8		hmmpanther:PTHR11920:SF302,hmmpanther:PTHR11920,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	32724751	32724751	C	A	1	0	0	0	0	1	0	0	0	10652	710	25	2		2	NPR3	5	32724751	Missense_Mutation	SNP	C	C3N-00545_TP	1401734	32724751	148813508	107	15052											
PLCXD3	0	.	GRCh38	chr5	41313653	41313653	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatcaaagacatagttGagctttatgacagtgctgat	12	13	8	8	0	2	4	2	3	0	1	2	4	2	4	1	0	2	3	1	0	3	5	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.930C>A	p.=	p.L310L	ENST00000377801	3/3	319	289	30	112	112	0	strelka-varscan	PLCXD3,synonymous_variant,p.=,ENST00000377801,;PLCXD3,synonymous_variant,p.=,ENST00000328457,NM_001005473.2;	T	ENST00000377801	Transcript	synonymous_variant	1005/7704	930/966	310/321	L	ctC/ctA		1		-1	PLCXD3	HGNC	HGNC:31822	protein_coding	YES	CCDS34150.1	ENSP00000367032	Q63HM9		UPI0000049DBB				3/3		Gene3D:3.20.20.190,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33,Superfamily_domains:SSF51695																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	48	41313653	41313653	G	T	1	0	0	0	0	0	0	0	1	12137	1277	45	2		2	PLCXD3	5	41313653	Silent	SNP	G	C3N-00545_TP	8588902	41313653	140224606	108	15053											
DMGDH	0	.	GRCh38	chr5	79051323	79051323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctatttgctctcatagaccCctgtggtgtttcaacgtccc	6	15	7	13	1	3	1	2	0	2	1	5	1	4	1	3	1	2	2	3	1	3	4	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.709G>T	p.Gly237Trp	p.G237W	ENST00000255189	5/16	727	652	75	424	422	2	strelka-varscan-mutect	DMGDH,missense_variant,p.Gly237Trp,ENST00000255189,NM_013391.3;DMGDH,missense_variant,p.Gly76Trp,ENST00000523732,;DMGDH,downstream_gene_variant,,ENST00000520388,;DMGDH,3_prime_UTR_variant,,ENST00000524206,;DMGDH,intron_variant,,ENST00000518477,;DMGDH,intron_variant,,ENST00000517853,;DMGDH,intron_variant,,ENST00000521052,;	A	ENST00000255189	Transcript	missense_variant	738/3106	709/2601	237/866	G/W	Ggg/Tgg		1		-1	DMGDH	HGNC	HGNC:24475	protein_coding	YES	CCDS4044.1	ENSP00000255189	Q9UI17		UPI000013CE96	NM_013391.3	deleterious(0)		5/16		Gene3D:3.50.50.60,Pfam_domain:PF01266,hmmpanther:PTHR13847,hmmpanther:PTHR13847:SF187,Superfamily_domains:SSF51905																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	79051323	79051323	C	A	1	0	0	0	0	1	0	0	0	4388	623	22	2		2	DMGDH	5	79051323	Missense_Mutation	SNP	C	C3N-00545_TP	37737670	79051323	102486936	109	15054											
SLCO6A1	0	.	GRCh38	chr5	102388768	102388768	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacatttattaacatccCgtaaaatacaagaagtttct	15	13	4	9	1	1	1	0	0	1	1	3	1	3	1	2	0	2	2	2	0	7	6	rs72779942		C3N-00545_TP	C3N-00545_NB	C	C																c.1937G>T	p.Arg646Leu	p.R646L	ENST00000506729	12/14	183	171	12	27	27	0	strelka-mutect	SLCO6A1,missense_variant,p.Arg646Leu,ENST00000506729,NM_001289002.1,NM_173488.4;SLCO6A1,missense_variant,p.Arg646Leu,ENST00000379807,;SLCO6A1,missense_variant,p.Arg584Leu,ENST00000389019,NM_001289004.1;SLCO6A1,missense_variant,p.Arg393Leu,ENST00000513675,NM_001308014.1;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000514765,;	A	ENST00000506729	Transcript	missense_variant	2109/2689	1937/2160	646/719	R/L	cGg/cTg	rs72779942	1		-1	SLCO6A1	HGNC	HGNC:23613	protein_coding	YES	CCDS34206.1	ENSP00000421339	Q86UG4	A0A140VJU7	UPI000020C392	NM_001289002.1,NM_173488.4	tolerated(0.1)		12/14		hmmpanther:PTHR11388:SF95,hmmpanther:PTHR11388,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,Pfam_domain:PF03137,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		rs72779942	.												A	3	1	48	102388768	102388768	C	A	1	0	0	0	0	1	0	0	0	15019	652	23	1		1	SLCO6A1	5	102388768	Missense_Mutation	SNP	C	C3N-00545_TP	23337445	102388768	79149491	110	15055											
PCDHA2	0	.	GRCh38	chr5	140796189	140796189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaattactactcgttggtgCtggacagcgccctggaccgc	8	9	12	12	3	0	1	0	0	0	1	1	3	0	3	2	3	4	2	2	3	3	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.1225C>T	p.=	p.L409L	ENST00000526136	1/4	605	542	63	368	368	0	strelka-varscan-mutect	PCDHA2,synonymous_variant,p.=,ENST00000526136,NM_018905.2;PCDHA2,synonymous_variant,p.=,ENST00000520672,NM_031496.1;PCDHA2,synonymous_variant,p.=,ENST00000378132,NM_031495.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA3,upstream_gene_variant,,ENST00000532566,NM_031497.1;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,intron_variant,,ENST00000624176,;	T	ENST00000526136	Transcript	synonymous_variant	1225/5254	1225/2847	409/948	L	Ctg/Ttg		1		1	PCDHA2	HGNC	HGNC:8668	protein_coding	YES	CCDS54914.1	ENSP00000431748	Q9Y5H9		UPI00001273C9	NM_018905.2			1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	140796189	140796189	C	T	1	0	0	0	0	0	0	0	1	11611	796	28	3		3	PCDHA2	5	140796189	Silent	SNP	C	C3N-00545_TP	38407421	140796189	40742070	111	15056											
PCDHGA3	0	.	GRCh38	chr5	141344573	141344573	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaatgactacttctctctGgctgtgaatagcgtctctga	8	13	8	12	1	3	3	0	3	3	0	5	3	3	3	1	1	2	1	1	1	4	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.540G>T	p.=	p.L180L	ENST00000253812	1/4	377	342	35	235	235	0	strelka-varscan-mutect	PCDHGA3,synonymous_variant,p.=,ENST00000253812,NM_018916.3;PCDHGA3,synonymous_variant,p.=,ENST00000619750,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA2,downstream_gene_variant,,ENST00000528330,NM_032009.2;PCDHGA3,3_prime_UTR_variant,,ENST00000612467,;	T	ENST00000253812	Transcript	synonymous_variant	706/4771	540/2799	180/932	L	ctG/ctT		1		1	PCDHGA3	HGNC	HGNC:8701	protein_coding	YES	CCDS47290.1	ENSP00000253812	Q9Y5H0		UPI0000161C1A	NM_018916.3			1/4		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF75,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	141344573	141344573	G	T	1	0	0	0	0	0	0	0	1	11642	1335	47	2		2	PCDHGA3	5	141344573	Silent	SNP	G	C3N-00545_TP	548384	141344573	40193686	112	15057											
PCDHGA7	0	.	GRCh38	chr5	141385090	141385090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcaggcttcagaaggtGgcttggcgaacgtgcccacc	7	8	14	12	2	1	1	1	0	0	1	1	2	1	1	2	4	4	4	2	4	2	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.2191G>T	p.Gly731Cys	p.G731C	ENST00000518325	1/4	574	533	41	409	408	1	strelka-varscan-mutect	PCDHGA7,missense_variant,p.Gly731Cys,ENST00000518325,NM_018920.3;PCDHGA7,missense_variant,p.Gly731Cys,ENST00000617050,NM_032087.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,upstream_gene_variant,,ENST00000615384,NM_032098.1;PCDHGB4,upstream_gene_variant,,ENST00000519479,NM_003736.2;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000518325	Transcript	missense_variant	2191/4605	2191/2799	731/932	G/C	Ggc/Tgc		1		1	PCDHGA7	HGNC	HGNC:8705	protein_coding	YES	CCDS54927.1	ENSP00000430024	Q9Y5G6		UPI000007146F	NM_018920.3	deleterious_low_confidence(0.01)		1/4		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF56																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	141385090	141385090	G	T	1	0	0	0	0	1	0	0	0	11646	1348	47	2		2	PCDHGA7	5	141385090	Missense_Mutation	SNP	G	C3N-00545_TP	40517	141385090	40153169	113	15058											
PDGFRB	0	.	GRCh38	chr5	150132033	150132033	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatcctcatggaaggcccGcatggtgtagtggccagcct	8	8	13	12	1	1	0	1	0	0	0	2	1	2	1	4	4	2	3	4	4	2	1	rs377445092		C3N-00545_TP	C3N-00545_NB	G	G																c.1189C>A	p.=	p.R397R	ENST00000261799	8/23	249	223	26	217	217	0	strelka-varscan-mutect	PDGFRB,synonymous_variant,p.=,ENST00000261799,NM_002609.3;PDGFRB,downstream_gene_variant,,ENST00000517488,;PDGFRB,downstream_gene_variant,,ENST00000517957,;PDGFRB,3_prime_UTR_variant,,ENST00000520579,;PDGFRB,downstream_gene_variant,,ENST00000522466,;	T	ENST00000261799	Transcript	synonymous_variant	1659/5717	1189/3321	397/1106	R	Cgg/Agg	rs377445092	1		-1	PDGFRB	HGNC	HGNC:8804	protein_coding	YES	CCDS4303.1	ENSP00000261799	P09619		UPI0000131791	NM_002609.3			8/23		Gene3D:2.60.40.10,Pfam_domain:PF07679,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500948,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs377445092	.												T	2	4	48	150132033	150132033	G	T	1	0	0	0	0	0	0	0	1	11750	1086	38	1		1	PDGFRB	5	150132033	Silent	SNP	G	C3N-00545_TP	8746943	150132033	31406226	114	15059											
DOCK2	0	.	GRCh38	chr5	169674358	169674358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacgatctgatggagtggaGgtcccagcttctctcaggaa	9	10	13	9	1	3	1	1	1	2	0	5	5	4	4	1	4	2	2	1	4	2	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.383G>T	p.Arg128Met	p.R128M	ENST00000256935	6/52	414	375	39	198	198	0	strelka-varscan-mutect	DOCK2,missense_variant,p.Arg128Met,ENST00000256935,NM_004946.2;DOCK2,non_coding_transcript_exon_variant,,ENST00000522138,;DOCK2,missense_variant,p.Arg128Met,ENST00000524185,;	T	ENST00000256935	Transcript	missense_variant	463/6097	383/5493	128/1830	R/M	aGg/aTg		1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2	deleterious(0)		6/52		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Pfam_domain:PF16172																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	169674358	169674358	G	T	1	0	0	0	0	1	0	0	0	4502	1000	35	2		2	DOCK2	5	169674358	Missense_Mutation	SNP	G	C3N-00545_TP	19542325	169674358	11863901	115	15060											
BTNL9	0	.	GRCh38	chr5	181045502	181045502	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgagagatggtggacctcTcagtctccccagactccttg	8	9	11	13	1	2	2	1	0	2	2	5	6	3	3	4	2	0	0	4	2	0	1	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.13T>A	p.Ser5Thr	p.S5T	ENST00000327705	2/11	366	323	43	191	191	0	strelka-varscan-mutect	BTNL9,missense_variant,p.Ser5Thr,ENST00000327705,NM_152547.4;BTNL9,missense_variant,p.Ser5Thr,ENST00000376841,NM_001308245.1;BTNL9,intron_variant,,ENST00000515271,;MIR8089,upstream_gene_variant,,ENST00000620165,;BTNL9,non_coding_transcript_exon_variant,,ENST00000513424,;BTNL9,missense_variant,p.Ser5Thr,ENST00000491209,;	A	ENST00000327705	Transcript	missense_variant	244/3500	13/1608	5/535	S/T	Tca/Aca		1		1	BTNL9	HGNC	HGNC:24176	protein_coding	YES	CCDS4460.2	ENSP00000330200	Q6UXG8		UPI000004C620	NM_152547.4	tolerated_low_confidence(0.08)		2/11		hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF62																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	181045502	181045502	T	A	1	0	0	0	0	1	0	0	0	1744	1551	54	4		4	BTNL9	5	181045502	Missense_Mutation	SNP	T	C3N-00545_TP	11371144	181045502	492757	116	15061											
SLC17A4	0	.	GRCh38	chr6	25769049	25769049	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtaatttttcaatttacacCcaacaaatgaacttgagcat	15	14	4	8	0	1	2	1	2	0	0	1	2	1	2	1	0	4	2	1	0	6	6	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.156C>A	p.=	p.T52T	ENST00000377905	3/12	725	658	67	377	377	0	strelka-varscan-mutect	SLC17A4,synonymous_variant,p.=,ENST00000377905,NM_005495.2;SLC17A4,5_prime_UTR_variant,,ENST00000439485,NM_001286121.1;SLC17A4,5_prime_UTR_variant,,ENST00000397076,;	A	ENST00000377905	Transcript	synonymous_variant	275/3616	156/1494	52/497	T	acC/acA		1		1	SLC17A4	HGNC	HGNC:10932	protein_coding	YES	CCDS4564.1	ENSP00000367137	Q9Y2C5	A0A024R013	UPI0000073585	NM_005495.2			3/12		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF284,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	48	25769049	25769049	C	A	1	0	0	0	0	0	0	0	1	14684	610	22	2		2	SLC17A4	6	25769049	Silent	SNP	C	C3N-00545_TP		25769049	145036930	117	15062											
HIST1H2BM	0	.	GRCh38	chr6	27815357	27815357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtgcgcctactgctacccgGggaattggccaagcacgccg	7	6	13	15	5	0	0	0	0	0	0	0	1	0	1	4	3	5	2	4	3	4	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.314G>T	p.Gly105Val	p.G105V	ENST00000621112	1/1	394	366	28	266	266	0	strelka-varscan-mutect	HIST1H2BM,missense_variant,p.Gly105Val,ENST00000621112,NM_003521.2;HIST1H3H,downstream_gene_variant,,ENST00000369163,NM_003536.2;HIST1H2AJ,upstream_gene_variant,,ENST00000333151,NM_021066.2;	T	ENST00000621112	Transcript	missense_variant	314/381	314/381	105/126	G/V	gGg/gTg		1		1	HIST1H2BM	HGNC	HGNC:4750	protein_coding	YES	CCDS4629.1	ENSP00000477907	Q99879		UPI0000001BD7	NM_003521.2	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR23428,PROSITE_patterns:PS00357,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621																	MODERATE	1	SNV				1										PASS		rs1218132247	.												T	3	4	48	27815357	27815357	G	T	1	0	0	0	0	1	0	0	0	7040	1232	43	2		2	HIST1H2BM	6	27815357	Missense_Mutation	SNP	G	C3N-00545_TP	2046308	27815357	142990622	118	15063											
TRIM10	0	.	GRCh38	chr6	30154366	30154366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagaacacaggtggccCggtcaaaacgttgggggttg	9	6	17	9	2	1	1	1	0	0	1	1	1	1	1	2	6	2	2	2	6	3	2	rs774908475		C3N-00545_TP	C3N-00545_NB	C	C																c.1049G>T	p.Arg350Leu	p.R350L	ENST00000449742	7/7	442	398	44	222	222	0	strelka-varscan-mutect	TRIM10,missense_variant,p.Arg350Leu,ENST00000449742,NM_006778.3;TRIM10,missense_variant,p.Arg350Leu,ENST00000376704,NM_052828.2;	A	ENST00000449742	Transcript	missense_variant	1125/3546	1049/1446	350/481	R/L	cGg/cTg	rs774908475	1		-1	TRIM10	HGNC	HGNC:10072	protein_coding	YES	CCDS34375.1	ENSP00000397073	Q9UDY6		UPI000000D736	NM_006778.3	tolerated(0.64)		7/7		Pfam_domain:PF13765,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF329,SMART_domains:SM00589,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs774908475	.												A	3	1	48	30154366	30154366	C	A	1	0	0	0	0	1	0	0	0	16975	652	23	1		1	TRIM10	6	30154366	Missense_Mutation	SNP	C	C3N-00545_TP	2339009	30154366	140651613	119	15064											
PRRC2A	0	.	GRCh38	chr6	31633540	31633540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggagtgtaactgcaccagGgggtcatccaaggcacaagc	12	5	14	10	0	1	0	1	0	0	0	2	1	2	1	2	4	3	3	2	4	3	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.4481G>T	p.Gly1494Val	p.G1494V	ENST00000376033	17/31	527	455	72	301	301	0	strelka-varscan-mutect	PRRC2A,missense_variant,p.Gly1494Val,ENST00000376033,NM_004638.3;PRRC2A,missense_variant,p.Gly1494Val,ENST00000376007,NM_080686.2;MIR6832,upstream_gene_variant,,ENST00000616110,;PRRC2A,upstream_gene_variant,,ENST00000492691,;PRRC2A,upstream_gene_variant,,ENST00000487839,;PRRC2A,upstream_gene_variant,,ENST00000462617,;PRRC2A,downstream_gene_variant,,ENST00000483470,;PRRC2A,upstream_gene_variant,,ENST00000484787,;PRRC2A,upstream_gene_variant,,ENST00000487089,;PRRC2A,upstream_gene_variant,,ENST00000482441,;PRRC2A,upstream_gene_variant,,ENST00000460302,;PRRC2A,upstream_gene_variant,,ENST00000469501,;	T	ENST00000376033	Transcript	missense_variant	4715/6893	4481/6474	1494/2157	G/V	gGg/gTg		1		1	PRRC2A	HGNC	HGNC:13918	protein_coding	YES	CCDS4708.1	ENSP00000365201	P48634		UPI000020E56F	NM_004638.3	tolerated(0.09)		17/31		hmmpanther:PTHR14038:SF5,hmmpanther:PTHR14038																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	31633540	31633540	G	T	1	0	0	0	0	1	0	0	0	12748	1232	43	2		2	PRRC2A	6	31633540	Missense_Mutation	SNP	G	C3N-00545_TP	1479174	31633540	139172439	120	15065											
NOTCH4	0	.	GRCh38	chr6	32200941	32200941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtagaagcccagggtcccagGgacagcgggatgccgggtgg	8	4	19	10	2	0	1	0	0	0	1	1	3	1	3	3	5	3	1	3	5	2	1			C3N-00545_TP	C3N-00545_NB	G	G																c.4205C>T	p.Pro1402Leu	p.P1402L	ENST00000375023	23/30	110	94	16	67	67	0	strelka-varscan-mutect	NOTCH4,missense_variant,p.Pro1402Leu,ENST00000375023,NM_004557.3;NOTCH4,non_coding_transcript_exon_variant,,ENST00000474612,;NOTCH4,upstream_gene_variant,,ENST00000491215,;	A	ENST00000375023	Transcript	missense_variant	4344/6745	4205/6012	1402/2003	P/L	cCc/cTc	COSM5625859	1		-1	NOTCH4	HGNC	HGNC:7884	protein_coding	YES	CCDS34420.1	ENSP00000364163	Q99466		UPI0000130571	NM_004557.3	tolerated(0.1)		23/30		hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF64,Pfam_domain:PF07684,SMART_domains:SM01339,Prints_domain:PR01987											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	48	32200941	32200941	G	A	1	0	0	0	0	1	0	0	0	10596	1232	43	3		3	NOTCH4	6	32200941	Missense_Mutation	SNP	G	C3N-00545_TP	567401	32200941	138605038	121	15066											
MAPK13	0	.	GRCh38	chr6	36136941	36136941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagggaaaactctgttcaagGggaaagattgtatcctttgc	12	11	11	7	0	2	1	1	0	1	1	3	3	3	3	1	3	2	2	1	3	5	4	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.673G>T	p.Gly225Trp	p.G225W	ENST00000211287	8/12	184	151	33	100	100	0	strelka-varscan-mutect	MAPK13,missense_variant,p.Gly225Trp,ENST00000211287,NM_002754.4;MAPK13,intron_variant,,ENST00000373766,;MAPK13,intron_variant,,ENST00000373759,;MAPK13,downstream_gene_variant,,ENST00000490334,;MAPK13,downstream_gene_variant,,ENST00000476951,;	T	ENST00000211287	Transcript	missense_variant	935/2052	673/1098	225/365	G/W	Ggg/Tgg		1		1	MAPK13	HGNC	HGNC:6875	protein_coding	YES	CCDS4818.1	ENSP00000211287	O15264	A0A024RD04	UPI000012F182	NM_002754.4	deleterious(0)		8/12		PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF107,hmmpanther:PTHR24055,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	36136941	36136941	G	T	1	0	0	0	0	1	0	0	0	9199	1232	43	2		2	MAPK13	6	36136941	Missense_Mutation	SNP	G	C3N-00545_TP	3936000	36136941	134669038	122	15067											
LRFN2	0	.	GRCh38	chr6	40392402	40392402	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgggatcctccagggggcCcgtcccagccccgcagcctc	4	5	14	18	2	0	0	0	0	0	0	4	1	3	1	7	4	2	1	7	4	0	0			C3N-00545_TP	C3N-00545_NB	C	C																c.1911G>T	p.=	p.R637R	ENST00000338305	3/3	158	145	13	120	120	0	strelka-varscan-mutect	LRFN2,synonymous_variant,p.=,ENST00000338305,NM_020737.2;	A	ENST00000338305	Transcript	synonymous_variant	2454/3270	1911/2370	637/789	R	cgG/cgT	COSM3627081	1		-1	LRFN2	HGNC	HGNC:21226	protein_coding	YES	CCDS34443.1	ENSP00000345985	Q9ULH4		UPI00001C1E47	NM_020737.2			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	48	40392402	40392402	C	A	1	0	0	0	0	0	0	0	1	8832	610	22	2		2	LRFN2	6	40392402	Silent	SNP	C	C3N-00545_TP	4255461	40392402	130413577	123	15068											
HSP90AB1	0	.	GRCh38	chr6	44250061	44250061	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaaagtgatcctccatctTaaagaagatcagacagagta	17	8	7	9	0	2	5	1	1	1	4	4	5	4	5	3	0	0	1	3	0	5	2	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.555T>C	p.=	p.L185L	ENST00000371554	5/12	446	401	45	97	97	0	strelka-varscan-mutect	HSP90AB1,synonymous_variant,p.=,ENST00000371554,;HSP90AB1,synonymous_variant,p.=,ENST00000620073,NM_001271970.1;HSP90AB1,synonymous_variant,p.=,ENST00000353801,NM_001271969.1;HSP90AB1,synonymous_variant,p.=,ENST00000371646,NM_001271971.1,NM_007355.3,NM_001271972.1;SLC35B2,downstream_gene_variant,,ENST00000619636,NM_001286510.1,NM_001286512.1;SLC35B2,downstream_gene_variant,,ENST00000393812,NM_178148.3,NM_001286509.1;SLC35B2,downstream_gene_variant,,ENST00000615337,NM_001286511.1;SLC35B2,downstream_gene_variant,,ENST00000538577,NM_001286513.1;SLC35B2,downstream_gene_variant,,ENST00000393810,;SLC35B2,downstream_gene_variant,,ENST00000537814,NM_001286519.1,NM_001286520.1;SLC35B2,downstream_gene_variant,,ENST00000583964,;SLC35B2,downstream_gene_variant,,ENST00000495706,;	C	ENST00000371554	Transcript	synonymous_variant	769/2674	555/2175	185/724	L	ctT/ctC		1		1	HSP90AB1	HGNC	HGNC:5258	protein_coding	YES	CCDS4909.1	ENSP00000360609	P08238	A0A024RD80	UPI00001411EF				5/12		Gene3D:3.30.565.10,HAMAP:MF_00505,Pfam_domain:PF02518,PIRSF_domain:PIRSF002583,Prints_domain:PR00775,hmmpanther:PTHR11528,SMART_domains:SM00387,Superfamily_domains:SSF55874																	LOW		SNV	5			1										PASS		rs760864610	.												C	2	2	48	44250061	44250061	T	C	1	0	0	0	0	0	0	0	1	7298	1741	61	5		5	HSP90AB1	6	44250061	Silent	SNP	T	C3N-00545_TP	3857659	44250061	126555918	124	15069											
MUT	0	.	GRCh38	chr6	49459274	49459274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggttttatagagatcccttCcggggtgtgccatattaggt	7	14	13	7	1	0	1	0	0	0	1	2	2	2	1	3	4	1	1	3	4	4	6	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.193G>A	p.Glu65Lys	p.E65K	ENST00000274813	2/13	385	357	28	193	192	1	strelka-varscan-mutect	MUT,missense_variant,p.Glu65Lys,ENST00000274813,NM_000255.3;CENPQ,upstream_gene_variant,,ENST00000335783,NM_018132.3;	T	ENST00000274813	Transcript	missense_variant	321/3749	193/2253	65/750	E/K	Gaa/Aaa		1		-1	MUT	HGNC	HGNC:7526	protein_coding	YES	CCDS4924.1	ENSP00000274813	P22033	A0A024RD82	UPI000013DA28	NM_000255.3	deleterious_low_confidence(0)		2/13		hmmpanther:PTHR23408,hmmpanther:PTHR23408:SF1,Gene3D:3.20.20.240,TIGRFAM_domain:TIGR00641,Pfam_domain:PF01642,Superfamily_domains:SSF51703																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	49459274	49459274	C	T	1	0	0	0	0	1	0	0	0	9989	864	30	3		3	MUT	6	49459274	Missense_Mutation	SNP	C	C3N-00545_TP	5209213	49459274	121346705	125	15070											
PKHD1	0	.	GRCh38	chr6	52017456	52017456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacattgactctgcccaatGatctggcacaaagaggcatt	14	9	8	10	0	2	3	0	2	2	1	2	3	2	3	1	2	2	2	1	2	3	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.5554C>G	p.His1852Asp	p.H1852D	ENST00000371117	34/67	626	563	63	389	389	0	strelka-varscan-mutect	PKHD1,missense_variant,p.His1852Asp,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.His1852Asp,ENST00000340994,NM_170724.2;	C	ENST00000371117	Transcript	missense_variant	5830/16282	5554/12225	1852/4074	H/D	Cat/Gat		1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3	tolerated(0.08)		34/67																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	48	52017456	52017456	G	C	1	0	0	0	0	1	0	0	0	12067	1290	45	4		4	PKHD1	6	52017456	Missense_Mutation	SNP	G	C3N-00545_TP	2558182	52017456	118788523	126	15071											
PKHD1	0	.	GRCh38	chr6	52042948	52042948	+	Frame_Shift_Del	DEL	C	C	-																															cagtggcactgatggcaagaCcagagggtctcaccaacatc																								novel		C3N-00545_TP	C3N-00545_NB	C	C																c.3008delG	p.Gly1003ValfsTer13	p.G1003Vfs*13	ENST00000371117	27/67	262	213	49	155	155	0	sindel-varindel-pindel	PKHD1,frameshift_variant,p.Gly1003ValfsTer13,ENST00000371117,NM_138694.3;PKHD1,frameshift_variant,p.Gly1003ValfsTer13,ENST00000340994,NM_170724.2;	-	ENST00000371117	Transcript	frameshift_variant	3284/16282	3008/12225	1003/4074	G/X	gGt/gt		1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3			27/67																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	48	52042948	52042948	C	-	1	0	1	0	1	0	0	0	0	12067	507	18	0		0	PKHD1	6	52042948	Frame_Shift_Del	DEL	C	C3N-00545_TP	25492	52042948	118763031	127	15072											
IBTK	0	.	GRCh38	chr6	82234192	82234192	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tactacatgagttggtctatCcttcattacaagatccaaag	13	13	6	9	0	2	2	1	1	1	1	4	2	4	2	2	1	3	1	2	1	6	6	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.385G>C	p.Asp129His	p.D129H	ENST00000306270	3/29	102	93	9	71	71	0	strelka-varscan-mutect	IBTK,missense_variant,p.Asp129His,ENST00000306270,NM_015525.3;IBTK,missense_variant,p.Asp129His,ENST00000610980,;IBTK,missense_variant,p.Asp129His,ENST00000510291,NM_001300906.1;IBTK,missense_variant,p.Asp129His,ENST00000503631,;IBTK,missense_variant,p.Asp129His,ENST00000503400,;IBTK,non_coding_transcript_exon_variant,,ENST00000505222,;IBTK,non_coding_transcript_exon_variant,,ENST00000369751,;	G	ENST00000306270	Transcript	missense_variant	935/6054	385/4062	129/1353	D/H	Gat/Cat		1		-1	IBTK	HGNC	HGNC:17853	protein_coding	YES	CCDS34490.1	ENSP00000305721	Q9P2D0		UPI000041929F	NM_015525.3	deleterious(0)		3/29		PROSITE_profiles:PS50297,hmmpanther:PTHR22872:SF2,hmmpanther:PTHR22872,Gene3D:1.25.40.20																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	48	82234192	82234192	C	G	1	0	0	0	0	1	0	0	0	7376	855	30	4		4	IBTK	6	82234192	Missense_Mutation	SNP	C	C3N-00545_TP	30191244	82234192	88571787	128	15073											
BACH2	0	.	GRCh38	chr6	89932639	89932639	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctccaagcagcagggcacGttttcccccactgcgcattg	7	8	11	15	2	0	0	0	0	0	0	2	0	2	0	3	2	3	6	3	2	1	3	rs3798789		C3N-00545_TP	C3N-00545_NB	G	G																c.2295C>T	p.=	p.N765N	ENST00000257749	9/9	304	271	33	211	211	0	strelka-varscan-mutect	BACH2,synonymous_variant,p.=,ENST00000257749,NM_021813.3;BACH2,synonymous_variant,p.=,ENST00000537989,NM_001170794.1;BACH2,synonymous_variant,p.=,ENST00000343122,;	A	ENST00000257749	Transcript	synonymous_variant	3003/9113	2295/2526	765/841	N	aaC/aaT	rs3798789	1		-1	BACH2	HGNC	HGNC:14078	protein_coding	YES	CCDS5026.1	ENSP00000257749	Q9BYV9		UPI000004F8AD	NM_021813.3			9/9																			LOW	1	SNV	1			1										PASS		rs3798789	.												A	2	1	48	89932639	89932639	G	A	1	0	0	0	0	0	0	0	1	1442	1136	40	1		1	BACH2	6	89932639	Silent	SNP	G	C3N-00545_TP	7698447	89932639	80873340	129	15074											
LAMA2	0	.	GRCh38	chr6	129481285	129481285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttacacagttagctttcCtaagcctggttttgtggagc	7	16	10	8	0	0	0	0	0	0	0	1	1	1	1	2	2	4	4	2	2	3	7	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.7595C>A	p.Pro2532His	p.P2532H	ENST00000421865	55/65	442	394	48	250	250	0	strelka-varscan-mutect	LAMA2,missense_variant,p.Pro2531His,ENST00000618192,;LAMA2,missense_variant,p.Pro2528His,ENST00000617695,;LAMA2,missense_variant,p.Pro2532His,ENST00000421865,NM_001079823.1,NM_000426.3;RP1-69D17.3,non_coding_transcript_exon_variant,,ENST00000442449,;	A	ENST00000421865	Transcript	missense_variant	7644/9640	7595/9369	2532/3122	P/H	cCt/cAt		1		1	LAMA2	HGNC	HGNC:6482	protein_coding	YES	CCDS5138.1	ENSP00000400365	P24043		UPI00003673E0	NM_001079823.1,NM_000426.3	tolerated(0.07)		55/65		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF291,Superfamily_domains:SSF49899																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	48	129481285	129481285	C	A	1	0	0	0	0	1	0	0	0	8510	681	24	2		2	LAMA2	6	129481285	Missense_Mutation	SNP	C	C3N-00545_TP	39548646	129481285	41324694	130	15075											
L3MBTL3	0	.	GRCh38	chr6	130133533	130133533	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtccccaattccatgtcTgcccttgcgctgggagcagc	7	10	10	14	1	1	0	0	0	1	0	3	1	3	1	4	1	4	2	4	1	2	3	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.2048T>G	p.Leu683Arg	p.L683R	ENST00000529410	23/25	467	425	42	231	231	0	strelka-varscan-mutect	L3MBTL3,missense_variant,p.Leu683Arg,ENST00000529410,;L3MBTL3,missense_variant,p.Leu683Arg,ENST00000368136,;L3MBTL3,missense_variant,p.Leu683Arg,ENST00000361794,NM_032438.2;L3MBTL3,missense_variant,p.Leu658Arg,ENST00000368139,;L3MBTL3,missense_variant,p.Leu658Arg,ENST00000526019,;L3MBTL3,missense_variant,p.Leu658Arg,ENST00000533560,NM_001007102.2;RP11-73O6.3,non_coding_transcript_exon_variant,,ENST00000415964,;RP11-73O6.3,non_coding_transcript_exon_variant,,ENST00000591297,;RP11-73O6.3,non_coding_transcript_exon_variant,,ENST00000617353,;RP11-73O6.3,downstream_gene_variant,,ENST00000614735,;RP11-73O6.3,downstream_gene_variant,,ENST00000609978,;RP11-73O6.3,downstream_gene_variant,,ENST00000622734,;	G	ENST00000529410	Transcript	missense_variant	2527/4518	2048/2343	683/780	L/R	cTg/cGg		1		1	L3MBTL3	HGNC	HGNC:23035	protein_coding	YES	CCDS34537.1	ENSP00000431962	Q96JM7		UPI00001C1E3E		deleterious(0)		23/25		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF72																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	48	130133533	130133533	T	G	1	0	0	0	0	1	0	0	0	8495	1580	55	5		5	L3MBTL3	6	130133533	Missense_Mutation	SNP	T	C3N-00545_TP	652248	130133533	40672446	131	15076											
MOXD1	0	.	GRCh38	chr6	132328422	132328422	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcattagccccacctctccaCcaatagcccaggcaaaaatc	13	7	4	17	0	2	0	1	0	1	0	4	0	2	0	6	1	2	1	6	1	5	2	rs376097139		C3N-00545_TP	C3N-00545_NB	C	C																c.836G>C	p.Gly279Ala	p.G279A	ENST00000367963	5/12	156	133	23	136	136	0	strelka-varscan-mutect	MOXD1,missense_variant,p.Gly279Ala,ENST00000367963,NM_015529.3;MOXD1,missense_variant,p.Gly211Ala,ENST00000336749,;MOXD1,upstream_gene_variant,,ENST00000489128,;	G	ENST00000367963	Transcript	missense_variant	955/3059	836/1842	279/613	G/A	gGt/gCt	rs376097139	1		-1	MOXD1	HGNC	HGNC:21063	protein_coding	YES	CCDS5152.2	ENSP00000356940	Q6UVY6		UPI000003F04F	NM_015529.3	deleterious(0.01)		5/12		hmmpanther:PTHR10157,hmmpanther:PTHR10157:SF28,Gene3D:1yi9A01,Pfam_domain:PF01082,Superfamily_domains:SSF49742,Prints_domain:PR00767																	MODERATE	1	SNV	1			1										PASS		rs376097139	.												G	3	3	48	132328422	132328422	C	G	1	0	0	0	0	1	0	0	0	9682	507	18	4		4	MOXD1	6	132328422	Missense_Mutation	SNP	C	C3N-00545_TP	2194889	132328422	38477557	132	15077											
ACTB	0	.	GRCh38	chr7	5528619	5528619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtgggtgaccccgtcaccgGagtccatcacgatgccagtg	7	8	13	13	3	2	1	2	1	0	0	3	3	3	2	5	2	1	0	5	2	0	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.464C>T	p.Ser155Phe	p.S155F	ENST00000331789	4/6	528	469	59	244	244	0	strelka-varscan-mutect	ACTB,missense_variant,p.Ser155Phe,ENST00000331789,NM_001101.3;ACTB,missense_variant,p.Ser155Phe,ENST00000432588,;ACTB,downstream_gene_variant,,ENST00000443528,;ACTB,downstream_gene_variant,,ENST00000414620,;ACTB,downstream_gene_variant,,ENST00000417101,;ACTB,non_coding_transcript_exon_variant,,ENST00000473257,;ACTB,upstream_gene_variant,,ENST00000464611,;ACTB,3_prime_UTR_variant,,ENST00000425660,;ACTB,non_coding_transcript_exon_variant,,ENST00000462494,;ACTB,non_coding_transcript_exon_variant,,ENST00000493945,;ACTB,non_coding_transcript_exon_variant,,ENST00000484841,;ACTB,non_coding_transcript_exon_variant,,ENST00000477812,;ACTB,downstream_gene_variant,,ENST00000480301,;	A	ENST00000331789	Transcript	missense_variant	656/1917	464/1128	155/375	S/F	tCc/tTc		1		-1	ACTB	HGNC	HGNC:132	protein_coding	YES	CCDS5341.1	ENSP00000349960	P60709	Q1KLZ0	UPI000000082D	NM_001101.3	deleterious_low_confidence(0)		4/6		hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF244,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	5528619	5528619	G	A	1	0	0	0	0	1	0	0	0	236	1174	41	3		3	ACTB	7	5528619	Missense_Mutation	SNP	G	C3N-00545_TP		5528619	153817354	133	15078											
MACC1	0	.	GRCh38	chr7	20161747	20161747	+	Splice_Site	SNP	C	C	A																															aacagttataaattcccataCctgtaatattgcaacttttt																								novel		C3N-00545_TP	C3N-00545_NB	C	C																c.115+1G>T		p.X39_splice	ENST00000400331		111	104	7	16	16	0	strelka-mutect	MACC1,splice_donor_variant,,ENST00000400331,NM_182762.3;MACC1,splice_donor_variant,,ENST00000332878,;MACC1,splice_donor_variant,,ENST00000589011,;MACC1,downstream_gene_variant,,ENST00000471019,;	A	ENST00000400331	Transcript	splice_donor_variant	-/9159	115/2559	39/852				1		-1	MACC1	HGNC	HGNC:30215	protein_coding	YES	CCDS5369.1	ENSP00000383185	Q6ZN28		UPI00001B2F47	NM_182762.3				4/6																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	48	20161747	20161747	C	A	1	0	0	0	0	0	0	1	0	9059	521	18	2		2	MACC1	7	20161747	Splice_Site	SNP	C	C3N-00545_TP	14633128	20161747	139184226	134	15079	324	2									
MACC1	0	.	GRCh38	chr7	20161748	20161748	+	Nonsense_Mutation	SNP	C	C	A																															acagttataaattcccatacCtgtaatattgcaactttttg																										C3N-00545_TP	C3N-00545_NB	C	C																c.115G>T	p.Glu39Ter	p.E39*	ENST00000400331	4/7	114	107	7	17	17	0	strelka-mutect	MACC1,stop_gained,p.Glu39Ter,ENST00000400331,NM_182762.3;MACC1,stop_gained,p.Glu39Ter,ENST00000332878,;MACC1,stop_gained,p.Glu39Ter,ENST00000589011,;MACC1,downstream_gene_variant,,ENST00000471019,;	A	ENST00000400331	Transcript	stop_gained,splice_region_variant	424/9159	115/2559	39/852	E/*	Gaa/Taa	COSM4909478	1		-1	MACC1	HGNC	HGNC:30215	protein_coding	YES	CCDS5369.1	ENSP00000383185	Q6ZN28		UPI00001B2F47	NM_182762.3			4/7		hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1											1						HIGH	1	SNV	2		1	1										PASS		.	.												A	4	1	48	20161748	20161748	C	A	1	0	0	0	0	0	1	0	0	9059	695	24	2		2	MACC1	7	20161748	Nonsense_Mutation	SNP	C	C3N-00545_TP	1	20161748	139184225	135	15080	324	2									
HOXA3	0	.	GRCh38	chr7	27108380	27108380	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggggcgactggggctcAtacgggacgctgttgaccag	6	6	19	10	4	1	1	1	1	0	0	1	3	1	2	1	6	1	3	1	6	1	2	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.867T>G	p.Tyr289Ter	p.Y289*	ENST00000612286	4/4	86	81	5	39	39	0	strelka-mutect	HOXA3,stop_gained,p.Tyr289Ter,ENST00000612286,NM_153631.2;HOXA3,stop_gained,p.Tyr289Ter,ENST00000396352,NM_030661.4;HOXA3,stop_gained,p.Tyr289Ter,ENST00000317201,;HOXA3,downstream_gene_variant,,ENST00000522788,;HOXA3,downstream_gene_variant,,ENST00000522456,;HOXA-AS2,intron_variant,,ENST00000518088,;HOXA3,downstream_gene_variant,,ENST00000521401,;	C	ENST00000612286	Transcript	stop_gained	1206/3396	867/1332	289/443	Y/*	taT/taG		1		-1	HOXA3	HGNC	HGNC:5104	protein_coding	YES	CCDS5404.1	ENSP00000484411	O43365	A0A024RA33	UPI000012CF22	NM_153631.2			4/4		Prints_domain:PR01217,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF137,Low_complexity_(Seg):seg																	HIGH	1	SNV	2			1										PASS		.	.												C	4	2	48	27108380	27108380	A	C	1	0	0	0	0	0	1	0	0	7187	224	8	5		5	HOXA3	7	27108380	Nonsense_Mutation	SNP	A	C3N-00545_TP	6946632	27108380	132237593	136	15081											
BMPER	0	.	GRCh38	chr7	34153234	34153234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacttggtccttcacaaGggaaggtgcatcaagccagt	12	8	11	10	0	2	0	2	0	0	0	3	1	3	1	2	3	3	2	2	3	4	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.2019G>T	p.Lys673Asn	p.K673N	ENST00000297161	16/16	731	648	83	342	342	0	strelka-varscan-mutect	BMPER,missense_variant,p.Lys673Asn,ENST00000297161,NM_133468.4;	T	ENST00000297161	Transcript	missense_variant	2393/5031	2019/2058	673/685	K/N	aaG/aaT		1		1	BMPER	HGNC	HGNC:24154	protein_coding	YES	CCDS5442.1	ENSP00000297161	Q8N8U9	A0A090N7U6	UPI000006D462	NM_133468.4	tolerated(0.24)		16/16		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF272,Pfam_domain:PF01826,Gene3D:2.10.25.10,Superfamily_domains:SSF57567																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	34153234	34153234	G	T	1	0	0	0	0	1	0	0	0	1623	991	35	2		2	BMPER	7	34153234	Missense_Mutation	SNP	G	C3N-00545_TP	7044854	34153234	125192739	137	15082											
AOAH	0	.	GRCh38	chr7	36513168	36513168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctttgggcctgtgacgtGgcagcccccatagggtttgt	4	12	14	11	1	0	1	0	1	0	0	1	1	1	1	4	3	1	2	4	3	1	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1931C>A	p.Pro644Gln	p.P644Q	ENST00000617267	22/22	833	755	78	365	365	0	strelka-varscan-mutect	AOAH,missense_variant,p.Pro644Gln,ENST00000617267,NM_001177506.1;AOAH,3_prime_UTR_variant,,ENST00000617537,NM_001637.3;AOAH,3_prime_UTR_variant,,ENST00000612871,NM_001177507.1;AOAH,non_coding_transcript_exon_variant,,ENST00000614254,;AOAH,non_coding_transcript_exon_variant,,ENST00000621510,;	T	ENST00000617267	Transcript	missense_variant	2232/2398	1931/2067	644/688	P/Q	cCa/cAa		1		-1	AOAH	HGNC	HGNC:548	protein_coding	YES	CCDS75584.1	ENSP00000479664		A0A087WVT3	UPI0001D043BB	NM_001177506.1			22/22																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	36513168	36513168	G	T	1	0	0	0	0	1	0	0	0	835	1348	47	2		2	AOAH	7	36513168	Missense_Mutation	SNP	G	C3N-00545_TP	2359934	36513168	122832805	138	15083											
ELMO1	0	.	GRCh38	chr7	37233196	37233196	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcatgtctccaaagcTgaaaaagacagagaggcaca	17	4	11	9	0	1	3	0	1	1	2	2	5	1	4	1	2	2	3	1	2	3	0	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.450-2A>T		p.X150_splice	ENST00000310758		253	215	38	147	147	0	strelka-varscan-mutect	ELMO1,splice_acceptor_variant,,ENST00000310758,NM_001206480.2,NM_014800.10;ELMO1,splice_acceptor_variant,,ENST00000442504,NM_001206482.1;ELMO1,splice_acceptor_variant,,ENST00000448602,;ELMO1,splice_acceptor_variant,,ENST00000455119,;	A	ENST00000310758	Transcript	splice_acceptor_variant	-/4022	450/2184	150/727				1		-1	ELMO1	HGNC	HGNC:16286	protein_coding	YES	CCDS5449.1	ENSP00000312185	Q92556	A4D1X5	UPI000006F687	NM_001206480.2,NM_014800.10				7/21																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	48	37233196	37233196	T	A	1	0	0	0	0	0	0	1	0	4899	1594	55	4		4	ELMO1	7	37233196	Splice_Site	SNP	T	C3N-00545_TP	720028	37233196	122112777	139	15084											
AMPH	0	.	GRCh38	chr7	38461284	38461284	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaaccaggcacttaccTgggaaggtgttgtcacactg	9	9	11	12	0	1	1	1	1	0	0	1	2	1	2	3	3	2	2	3	3	3	2	rs764043467		C3N-00545_TP	C3N-00545_NB	T	T																c.1016A>T	p.Gln339Leu	p.Q339L	ENST00000356264	11/21	255	225	30	114	114	0	strelka-varscan-mutect	AMPH,missense_variant,p.Gln339Leu,ENST00000356264,NM_001635.3;AMPH,missense_variant,p.Gln339Leu,ENST00000325590,NM_139316.2;AMPH,missense_variant,p.Gln90Leu,ENST00000441628,;	A	ENST00000356264	Transcript	missense_variant,splice_region_variant	1232/3418	1016/2088	339/695	Q/L	cAg/cTg	rs764043467	1		-1	AMPH	HGNC	HGNC:471	protein_coding	YES	CCDS5456.1	ENSP00000348602	P49418		UPI00001259EA	NM_001635.3	deleterious(0.01)		11/21		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF211																	MODERATE	1	SNV	1			1										PASS		rs36056840	.												A	3	1	48	38461284	38461284	T	A	1	0	0	0	0	1	0	0	0	686	1594	55	4		4	AMPH	7	38461284	Missense_Mutation	SNP	T	C3N-00545_TP	1228088	38461284	120884689	140	15085											
POLM	0	.	GRCh38	chr7	44074520	44074520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggtgctcaggtcctggtgGtgctggagccctgggggcaa	4	8	20	9	0	1	0	1	0	0	0	2	1	2	1	2	8	3	3	2	8	1	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.709C>T	p.Pro237Ser	p.P237S	ENST00000395831	6/9	118	97	21	66	66	0	strelka-varscan-mutect	POLM,missense_variant,p.Pro280Ser,ENST00000335195,NM_001284331.1;POLM,missense_variant,p.Pro237Ser,ENST00000395831,NM_001284330.1;POLM,synonymous_variant,p.=,ENST00000242248,NM_013284.3;POLM,upstream_gene_variant,,ENST00000611830,;POLM,non_coding_transcript_exon_variant,,ENST00000492971,;POLM,missense_variant,p.Thr152Ile,ENST00000435068,;POLM,synonymous_variant,p.=,ENST00000434229,;POLM,3_prime_UTR_variant,,ENST00000458246,;POLM,3_prime_UTR_variant,,ENST00000430942,;POLM,downstream_gene_variant,,ENST00000492605,;POLM,downstream_gene_variant,,ENST00000492312,;POLM,downstream_gene_variant,,ENST00000492321,;POLM,upstream_gene_variant,,ENST00000467607,;POLM,downstream_gene_variant,,ENST00000497300,;POLM,downstream_gene_variant,,ENST00000418926,;	A	ENST00000395831	Transcript	missense_variant	756/2380	709/1527	237/508	P/S	Cca/Tca		1		-1	POLM	HGNC	HGNC:9185	protein_coding	YES	CCDS64636.1	ENSP00000379174	Q9NP87		UPI0000DDA01D	NM_001284330.1	tolerated(0.63)		6/9		hmmpanther:PTHR11276,hmmpanther:PTHR11276:SF27,Low_complexity_(Seg):seg,SMART_domains:SM00483																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	44074520	44074520	G	A	1	0	0	0	0	1	0	0	0	12316	1275	44	3		3	POLM	7	44074520	Missense_Mutation	SNP	G	C3N-00545_TP	5613236	44074520	115271453	141	15086											
RAMP3	0	.	GRCh38	chr7	45157878	45157878	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctcccgttgctgctgcTgctctgcggtaagggggcga	4	11	14	12	3	2	0	0	0	2	0	3	1	2	0	1	3	5	6	1	3	1	3	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.50T>A	p.Leu17Gln	p.L17Q	ENST00000242249	1/3	94	86	8	36	36	0	strelka-mutect	RAMP3,missense_variant,p.Leu17Gln,ENST00000242249,NM_005856.2;RAMP3,missense_variant,p.Leu17Gln,ENST00000481345,;RAMP3,missense_variant,p.Leu17Gln,ENST00000496212,;	A	ENST00000242249	Transcript	missense_variant	88/1323	50/447	17/148	L/Q	cTg/cAg		1		1	RAMP3	HGNC	HGNC:9845	protein_coding	YES	CCDS5503.1	ENSP00000242249	O60896	A4D2L1	UPI0000134303	NM_005856.2	tolerated(0.17)		1/3		hmmpanther:PTHR14076,hmmpanther:PTHR14076:SF2,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	45157878	45157878	T	A	1	0	0	0	0	1	0	0	0	13182	1580	55	4		4	RAMP3	7	45157878	Missense_Mutation	SNP	T	C3N-00545_TP	1083358	45157878	114188095	142	15087											
ADCY1	0	.	GRCh38	chr7	45686091	45686091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgccctgctctgctgcCtggtgggcaccctcccgcta	4	9	10	18	1	1	0	0	0	1	0	2	0	2	0	5	2	4	4	5	2	1	1			C3N-00545_TP	C3N-00545_NB	C	C																c.2203C>A	p.Leu735Met	p.L735M	ENST00000297323	13/20	693	625	68	401	401	0	strelka-varscan-mutect	ADCY1,missense_variant,p.Leu735Met,ENST00000297323,NM_021116.2;ADCY1,downstream_gene_variant,,ENST00000468353,;	A	ENST00000297323	Transcript	missense_variant	2225/12503	2203/3360	735/1119	L/M	Ctg/Atg	COSM3923684	1		1	ADCY1	HGNC	HGNC:232	protein_coding	YES	CCDS34631.1	ENSP00000297323	Q08828		UPI0000199C4A	NM_021116.2	deleterious(0.04)		13/20		hmmpanther:PTHR11920:SF336,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	48	45686091	45686091	C	A	1	0	0	0	0	1	0	0	0	336	680	24	2		2	ADCY1	7	45686091	Missense_Mutation	SNP	C	C3N-00545_TP	528213	45686091	113659882	143	15088											
TNS3	0	.	GRCh38	chr7	47278174	47278174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcaaacaggtggcacaCattatccgtggcactgccct	9	9	9	14	1	1	0	0	0	1	0	2	0	2	0	2	3	3	3	2	3	2	1	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.4240G>A	p.Val1414Met	p.V1414M	ENST00000311160	31/31	387	345	42	188	188	0	strelka-varscan-mutect	TNS3,missense_variant,p.Val1414Met,ENST00000311160,NM_022748.11;TNS3,3_prime_UTR_variant,,ENST00000428457,;	T	ENST00000311160	Transcript	missense_variant	4598/7618	4240/4338	1414/1445	V/M	Gtg/Atg		1		-1	TNS3	HGNC	HGNC:21616	protein_coding	YES	CCDS5506.2	ENSP00000312143	Q68CZ2		UPI00001AE9DA	NM_022748.11	deleterious(0.02)		31/31		Gene3D:2.30.29.30,Pfam_domain:PF08416,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF42,SMART_domains:SM00462,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	47278174	47278174	C	T	1	0	0	0	0	1	0	0	0	16818	478	17	3		3	TNS3	7	47278174	Missense_Mutation	SNP	C	C3N-00545_TP	1592083	47278174	112067799	144	15089											
GUSB	0	.	GRCh38	chr7	65974542	65974542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggcagcgccaggcccaCgccgggacactcatcgatga	9	4	12	16	5	2	1	2	1	0	0	3	3	2	2	3	3	1	1	3	3	0	0	rs755842317		C3N-00545_TP	C3N-00545_NB	C	C																c.1228G>C	p.Val410Leu	p.V410L	ENST00000304895	7/12	877	763	114	531	531	0	strelka-varscan-mutect	GUSB,missense_variant,p.Val410Leu,ENST00000304895,NM_001293105.1,NM_001293104.1,NM_000181.3;GUSB,missense_variant,p.Val264Leu,ENST00000421103,NM_001284290.1;GUSB,non_coding_transcript_exon_variant,,ENST00000465785,;GUSB,non_coding_transcript_exon_variant,,ENST00000475316,;GUSB,non_coding_transcript_exon_variant,,ENST00000479038,;GUSB,downstream_gene_variant,,ENST00000476486,;GUSB,downstream_gene_variant,,ENST00000478118,;GUSB,3_prime_UTR_variant,,ENST00000447929,;GUSB,3_prime_UTR_variant,,ENST00000430730,;GUSB,non_coding_transcript_exon_variant,,ENST00000466883,;GUSB,non_coding_transcript_exon_variant,,ENST00000462371,;GUSB,non_coding_transcript_exon_variant,,ENST00000489482,;GUSB,downstream_gene_variant,,ENST00000446111,;	G	ENST00000304895	Transcript	missense_variant	1359/2300	1228/1956	410/651	V/L	Gtg/Ctg	rs755842317	1		-1	GUSB	HGNC	HGNC:4696	protein_coding	YES	CCDS5530.1	ENSP00000302728	P08236		UPI000013E9E0	NM_001293105.1,NM_001293104.1,NM_000181.3	deleterious(0)		7/12		Gene3D:3.20.20.80,Pfam_domain:PF02836,hmmpanther:PTHR10066,hmmpanther:PTHR10066:SF67,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		rs755842317	.												G	3	3	48	65974542	65974542	C	G	1	0	0	0	0	1	0	0	0	6784	536	19	4		4	GUSB	7	65974542	Missense_Mutation	SNP	C	C3N-00545_TP	18696368	65974542	93371431	145	15090											
LIMK1	0	.	GRCh38	chr7	74107916	74107916	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgatgaaggagctgAtccggttcgacgaggagacc	10	8	16	7	3	0	5	0	4	0	1	2	9	1	6	2	4	1	2	2	4	1	1	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.1111A>T	p.Ile371Phe	p.I371F	ENST00000336180	9/16	555	501	54	227	227	0	strelka-varscan-mutect	LIMK1,missense_variant,p.Ile401Phe,ENST00000418310,;LIMK1,missense_variant,p.Ile371Phe,ENST00000336180,NM_002314.3;LIMK1,missense_variant,p.Ile337Phe,ENST00000538333,NM_001204426.1;LIMK1,downstream_gene_variant,,ENST00000491052,;LIMK1,3_prime_UTR_variant,,ENST00000435201,;LIMK1,non_coding_transcript_exon_variant,,ENST00000483414,;	T	ENST00000336180	Transcript	missense_variant	1162/3219	1111/1944	371/647	I/F	Atc/Ttc		1		1	LIMK1	HGNC	HGNC:6613	protein_coding	YES	CCDS5563.1	ENSP00000336740	P53667		UPI000013D678	NM_002314.3	tolerated(0.1)		9/16		Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF425,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	74107916	74107916	A	T	1	0	0	0	0	1	0	0	0	8709	333	12	4		4	LIMK1	7	74107916	Missense_Mutation	SNP	A	C3N-00545_TP	8133374	74107916	85238057	146	15091											
CDK14	0	.	GRCh38	chr7	91118164	91118164	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagttatggcaaaagtctatCaaacagcaagcactgacaag	17	8	8	8	0	2	1	1	1	1	0	2	1	2	1	0	1	3	4	0	1	8	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.1394C>G	p.Ser465Ter	p.S465*	ENST00000380050	14/15	184	174	10	80	80	0	strelka-varscan-mutect	CDK14,stop_gained,p.Ser419Ter,ENST00000406263,NM_001287136.1;CDK14,stop_gained,p.Ser465Ter,ENST00000380050,NM_001287135.1;CDK14,stop_gained,p.Ser447Ter,ENST00000265741,NM_012395.3;CDK14,stop_gained,p.Ser336Ter,ENST00000436577,NM_001287137.1;	G	ENST00000380050	Transcript	stop_gained	1525/4995	1394/1410	465/469	S/*	tCa/tGa		1		1	CDK14	HGNC	HGNC:8883	protein_coding	YES	CCDS75626.1	ENSP00000369390	O94921		UPI000013EAF4	NM_001287135.1			14/15																			HIGH	1	SNV	1			1										PASS		.	.												G	4	3	48	91118164	91118164	C	G	1	0	0	0	0	0	1	0	0	2834	838	29	4		4	CDK14	7	91118164	Nonsense_Mutation	SNP	C	C3N-00545_TP	17010248	91118164	68227809	147	15092											
POP7	0	.	GRCh38	chr7	100706864	100706864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gagagccccgcggtgctgtgGaggctgaactggatccagtg	7	7	17	10	2	0	2	0	1	0	1	1	5	1	4	3	4	3	2	3	4	1	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.34G>C	p.Glu12Gln	p.E12Q	ENST00000303151	2/2	233	201	32	122	122	0	strelka-varscan-mutect	POP7,missense_variant,p.Glu12Gln,ENST00000303151,NM_005837.2;POP7,missense_variant,p.Glu12Gln,ENST00000457480,;	C	ENST00000303151	Transcript	missense_variant	296/927	34/423	12/140	E/Q	Gag/Cag		1		1	POP7	HGNC	HGNC:19949	protein_coding	YES	CCDS5704.1	ENSP00000304353	O75817		UPI000006E530	NM_005837.2	tolerated(0.28)		2/2		hmmpanther:PTHR15314,PIRSF_domain:PIRSF036572																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	48	100706864	100706864	G	C	1	0	0	0	0	1	0	0	0	12368	1175	41	4		4	POP7	7	100706864	Missense_Mutation	SNP	G	C3N-00545_TP	9588700	100706864	58639109	148	15093											
ZAN	0	.	GRCh38	chr7	100792460	100792460	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagagagcaagaggagctgCgttgccaggtcctcagtggg	10	6	16	9	1	1	2	1	0	0	2	2	4	2	3	2	3	4	3	2	3	2	1	rs373588495		C3N-00545_TP	C3N-00545_NB	C	C																c.7768C>G	p.Arg2590Gly	p.R2590G	ENST00000613979	42/48	300	280	20	120	120	0	strelka-varscan-mutect	ZAN,missense_variant,p.Arg2590Gly,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Arg2590Gly,ENST00000618565,;ZAN,missense_variant,p.Arg2590Gly,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Arg2590Gly,ENST00000546292,;ZAN,missense_variant,p.Arg2590Gly,ENST00000542585,;ZAN,missense_variant,p.Arg2590Gly,ENST00000538115,;ZAN,missense_variant,p.Arg2590Gly,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,;	G	ENST00000613979	Transcript	missense_variant	7933/8669	7768/8439	2590/2812	R/G	Cgt/Ggt	rs373588495	1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.2	deleterious(0)		42/48		Pfam_domain:PF08742,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF221,SMART_domains:SM00832																	MODERATE	1	SNV	1			1										PASS		rs373588495	.												G	3	3	48	100792460	100792460	C	G	1	0	0	0	0	1	0	0	0	18074	768	27	4		4	ZAN	7	100792460	Missense_Mutation	SNP	C	C3N-00545_TP	85596	100792460	58553513	149	15094											
MUC12	0	.	GRCh38	chr7	101014052	101014052	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaatcatcttattcagcCtatcccagagaaaacggcac	13	10	5	13	1	3	1	2	0	1	1	5	2	5	1	3	1	2	1	3	1	5	4	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.15778C>T	p.=	p.L5260L	ENST00000536621	9/12	177	147	30	70	70	0	strelka-varscan-mutect	MUC12,synonymous_variant,p.=,ENST00000379442,;MUC12,synonymous_variant,p.=,ENST00000536621,NM_001164462.1;RP11-395B7.4,downstream_gene_variant,,ENST00000441882,;RP11-395B7.4,downstream_gene_variant,,ENST00000448513,;MUC12,upstream_gene_variant,,ENST00000467414,;MUC12,upstream_gene_variant,,ENST00000473098,;MUC12,synonymous_variant,p.=,ENST00000305119,;MUC12,upstream_gene_variant,,ENST00000474482,;	T	ENST00000536621	Transcript	synonymous_variant	15778/16321	15778/16008	5260/5335	L	Cta/Tta		1		1	MUC12	HGNC	HGNC:7510	protein_coding	YES	CCDS55139.1	ENSP00000441929	Q9UKN1		UPI0001B25898	NM_001164462.1			9/12		Transmembrane_helices:TMhelix																	LOW		SNV	5			1										PASS		rs1299647868	.												T	2	4	48	101014052	101014052	C	T	1	0	0	0	0	0	0	0	1	9969	680	24	3		3	MUC12	7	101014052	Silent	SNP	C	C3N-00545_TP	221592	101014052	58331921	150	15095											
FIS1	0	.	GRCh38	chr7	101239869	101239869	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccgccacacccagggcCatgcctcccacgatggccat	8	5	9	19	2	0	0	0	0	0	0	2	1	2	0	7	2	1	0	7	2	0	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.396G>T	p.Met132Ile	p.M132I	ENST00000223136	5/5	362	316	46	229	229	0	strelka-varscan-mutect	FIS1,missense_variant,p.Met132Ile,ENST00000223136,NM_016068.2;FIS1,missense_variant,p.Gly87Cys,ENST00000435848,;FIS1,3_prime_UTR_variant,,ENST00000474120,;FIS1,3_prime_UTR_variant,,ENST00000442303,;CLDN15,upstream_gene_variant,,ENST00000401528,NM_001185080.1;CLDN15,upstream_gene_variant,,ENST00000611078,;CLDN15,upstream_gene_variant,,ENST00000308344,NM_014343.2;CLDN15,upstream_gene_variant,,ENST00000412417,;CLDN15,upstream_gene_variant,,ENST00000414035,;FIS1,non_coding_transcript_exon_variant,,ENST00000482199,;FIS1,non_coding_transcript_exon_variant,,ENST00000480497,;FIS1,non_coding_transcript_exon_variant,,ENST00000463406,;CLDN15,upstream_gene_variant,,ENST00000433422,;FIS1,3_prime_UTR_variant,,ENST00000473527,;FIS1,3_prime_UTR_variant,,ENST00000449367,;CLDN15,upstream_gene_variant,,ENST00000463331,;CLDN15,upstream_gene_variant,,ENST00000433833,;	A	ENST00000223136	Transcript	missense_variant	477/734	396/459	132/152	M/I	atG/atT		1		-1	FIS1	HGNC	HGNC:21689	protein_coding	YES	CCDS43626.1	ENSP00000223136	Q9Y3D6		UPI000007214F	NM_016068.2	tolerated(0.98)		5/5		PIRSF_domain:PIRSF008835,hmmpanther:PTHR13247,Low_complexity_(Seg):seg,Superfamily_domains:SSF48452,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	101239869	101239869	C	A	1	0	0	0	0	1	0	0	0	5760	594	21	2		2	FIS1	7	101239869	Missense_Mutation	SNP	C	C3N-00545_TP	225817	101239869	58106104	151	15096											
CUX1	0	.	GRCh38	chr7	102202197	102202197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catctgccagagaatcttcgGggagaaggtaagggatctgc	11	8	14	8	1	3	2	0	0	3	2	4	5	3	3	1	4	2	1	1	4	3	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.2933G>T	p.Gly978Val	p.G978V	ENST00000360264	18/24	76	66	10	57	57	0	strelka-varscan-mutect	CUX1,missense_variant,p.Gly978Val,ENST00000360264,NM_001202543.1;CUX1,missense_variant,p.Gly967Val,ENST00000292535,NM_181552.3;CUX1,missense_variant,p.Gly945Val,ENST00000549414,;CUX1,missense_variant,p.Gly911Val,ENST00000550008,;CUX1,missense_variant,p.Gly865Val,ENST00000546411,;CUX1,missense_variant,p.Gly809Val,ENST00000556210,;CUX1,intron_variant,,ENST00000437600,NM_001913.4;CUX1,intron_variant,,ENST00000622516,NM_181500.3;CUX1,intron_variant,,ENST00000292538,;CUX1,intron_variant,,ENST00000547394,NM_001202544.2;CUX1,intron_variant,,ENST00000425244,NM_001202545.2;CUX1,intron_variant,,ENST00000393824,NM_001202546.2;CUX1,intron_variant,,ENST00000560541,;CUX1,intron_variant,,ENST00000558836,;	T	ENST00000360264	Transcript	missense_variant	2953/13762	2933/4551	978/1516	G/V	gGg/gTg		1		1	CUX1	HGNC	HGNC:2557	protein_coding	YES	CCDS56498.1	ENSP00000353401	P39880		UPI00001AEB98	NM_001202543.1	deleterious(0)		18/24		PROSITE_profiles:PS51042,hmmpanther:PTHR14043:SF4,hmmpanther:PTHR14043,Gene3D:1.10.260.40,Pfam_domain:PF02376,SMART_domains:SM01109,Superfamily_domains:SSF47413																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	102202197	102202197	G	T	1	0	0	0	0	1	0	0	0	3874	1232	43	2		2	CUX1	7	102202197	Missense_Mutation	SNP	G	C3N-00545_TP	962328	102202197	57143776	152	15097											
CPA5	0	.	GRCh38	chr7	130367371	130367371	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggctttattttacttccaGgaaatggttctaacagcaac	11	14	8	8	0	1	0	0	0	1	0	2	1	2	1	1	3	4	3	1	3	5	7	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.839-1G>T		p.X280_splice	ENST00000485477		370	326	44	212	212	0	strelka-varscan-mutect	CPA5,splice_acceptor_variant,,ENST00000485477,;CPA5,splice_acceptor_variant,,ENST00000466363,;CPA5,splice_acceptor_variant,,ENST00000474905,NM_080385.4,NM_001127441.1;CPA5,splice_acceptor_variant,,ENST00000431780,NM_001127442.1;CPA5,splice_acceptor_variant,,ENST00000461828,NM_001318223.1;CPA5,splice_acceptor_variant,,ENST00000393213,;CPA5,intron_variant,,ENST00000479492,;CPA5,splice_acceptor_variant,,ENST00000495736,;	T	ENST00000485477	Transcript	splice_acceptor_variant	-/2573	839/1311	280/436				1		1	CPA5	HGNC	HGNC:15722	protein_coding	YES	CCDS5819.1	ENSP00000420237	Q8WXQ8	A4D1M2	UPI000000D837					9/11																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	48	130367371	130367371	G	T	1	0	0	0	0	0	0	1	0	3587	1014	35	2		2	CPA5	7	130367371	Splice_Site	SNP	G	C3N-00545_TP	28165174	130367371	28978602	153	15098											
ATP6V0A4	0	.	GRCh38	chr7	138759786	138759786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggggcgtccatctcaCtgaacttcaagtacacgttt	10	10	9	12	2	2	2	2	1	1	1	4	2	3	2	2	2	2	2	2	2	3	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.605G>T	p.Ser202Ile	p.S202I	ENST00000310018	8/22	975	868	107	709	709	0	strelka-varscan-mutect	ATP6V0A4,missense_variant,p.Ser202Ile,ENST00000310018,NM_020632.2,NM_130840.2;ATP6V0A4,missense_variant,p.Ser202Ile,ENST00000393054,NM_130841.2;ATP6V0A4,missense_variant,p.Ser202Ile,ENST00000353492,;ATP6V0A4,downstream_gene_variant,,ENST00000483139,;ATP6V0A4,upstream_gene_variant,,ENST00000478480,;	A	ENST00000310018	Transcript	missense_variant	888/3135	605/2523	202/840	S/I	aGt/aTt		1		-1	ATP6V0A4	HGNC	HGNC:866	protein_coding	YES	CCDS5849.1	ENSP00000308122	Q9HBG4	A0A024R791	UPI000013CDFD	NM_020632.2,NM_130840.2	deleterious(0.02)		8/22		Pfam_domain:PF01496,PIRSF_domain:PIRSF001293,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF26																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	138759786	138759786	C	A	1	0	0	0	0	1	0	0	0	1323	565	20	2		2	ATP6V0A4	7	138759786	Missense_Mutation	SNP	C	C3N-00545_TP	8392415	138759786	20586187	154	15099											
DENND2A	0	.	GRCh38	chr7	140544725	140544725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagagactcaaagtccacGtgctcgagccgggagtccag	12	5	13	11	3	1	2	1	0	0	2	4	5	3	3	3	1	2	1	3	1	2	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.2220C>A	p.His740Gln	p.H740Q	ENST00000275884	13/19	540	480	60	361	359	2	strelka-varscan-mutect	DENND2A,missense_variant,p.His740Gln,ENST00000275884,NM_001318052.1;DENND2A,missense_variant,p.His740Gln,ENST00000492720,NM_001318053.1;DENND2A,missense_variant,p.His740Gln,ENST00000496613,;DENND2A,missense_variant,p.His740Gln,ENST00000537639,NM_015689.3;DENND2A,missense_variant,p.His87Gln,ENST00000469373,;DENND2A,missense_variant,p.His740Gln,ENST00000461883,;	T	ENST00000275884	Transcript	missense_variant	2638/3735	2220/3030	740/1009	H/Q	caC/caA		1		-1	DENND2A	HGNC	HGNC:22212	protein_coding	YES	CCDS43659.1	ENSP00000275884	Q9ULE3		UPI00001C1E63	NM_001318052.1	deleterious(0)		13/19		PROSITE_profiles:PS50211,hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF3,Pfam_domain:PF02141,SMART_domains:SM00799																	MODERATE	1	SNV	1			1										PASS		rs1020779474	.												T	3	4	48	140544725	140544725	G	T	1	0	0	0	0	1	0	0	0	4233	1136	40	1		1	DENND2A	7	140544725	Missense_Mutation	SNP	G	C3N-00545_TP	1784939	140544725	18801248	155	15100											
EPHB6	0	.	GRCh38	chr7	142867021	142867021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgggcccggactgctgccgGccacggcccctacgggggca	4	3	17	17	5	0	0	0	0	0	0	0	1	0	1	5	6	3	2	5	6	1	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1703G>T	p.Gly568Val	p.G568V	ENST00000619012	11/20	460	427	33	294	294	0	strelka-varscan-mutect	EPHB6,missense_variant,p.Gly568Val,ENST00000619012,;EPHB6,missense_variant,p.Gly568Val,ENST00000422643,NM_004445.5;EPHB6,missense_variant,p.Gly275Val,ENST00000411471,NM_001280794.2,NM_001280795.2;TRPV6,downstream_gene_variant,,ENST00000359396,NM_018646.5;EPHB6,upstream_gene_variant,,ENST00000476059,;EPHB6,upstream_gene_variant,,ENST00000617632,;EPHB6,downstream_gene_variant,,ENST00000497095,;EPHB6,3_prime_UTR_variant,,ENST00000614832,;EPHB6,3_prime_UTR_variant,,ENST00000611578,;EPHB6,non_coding_transcript_exon_variant,,ENST00000616380,;TRPV6,downstream_gene_variant,,ENST00000615386,;TRPV6,downstream_gene_variant,,ENST00000485138,;EPHB6,upstream_gene_variant,,ENST00000486511,;EPHB6,upstream_gene_variant,,ENST00000471581,;	T	ENST00000619012	Transcript	missense_variant	2455/4011	1703/3069	568/1022	G/V	gGc/gTc		1		1	EPHB6	HGNC	HGNC:3396	protein_coding	YES	CCDS5873.2	ENSP00000481994		F8WCM8	UPI0003EAF8C7		deleterious(0)		11/20		PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF326,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Superfamily_domains:SSF49265,Prints_domain:PR00014																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	142867021	142867021	G	T	1	0	0	0	0	1	0	0	0	5025	1203	42	2		2	EPHB6	7	142867021	Missense_Mutation	SNP	G	C3N-00545_TP	2322296	142867021	16478952	156	15101											
NOS3	0	.	GRCh38	chr7	150993838	150993838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcgtggcccaggagcctgGgccaccctgcggcctggggc	4	4	18	15	2	0	0	0	0	0	0	0	2	0	1	5	6	3	0	5	6	0	0	rs757589399		C3N-00545_TP	C3N-00545_NB	G	G																c.35G>T	p.Gly12Val	p.G12V	ENST00000297494	2/27	337	311	26	235	234	1	strelka-varscan-mutect	NOS3,missense_variant,p.Gly12Val,ENST00000297494,NM_000603.4;NOS3,missense_variant,p.Gly12Val,ENST00000484524,NM_001160111.1;NOS3,missense_variant,p.Gly12Val,ENST00000467517,NM_001160109.1,NM_001160110.1;NOS3,intron_variant,,ENST00000461406,;	T	ENST00000297494	Transcript	missense_variant	392/4388	35/3612	12/1203	G/V	gGg/gTg	rs757589399	1		1	NOS3	HGNC	HGNC:7876	protein_coding	YES	CCDS5912.1	ENSP00000297494	P29474		UPI000013E417	NM_000603.4	deleterious_low_confidence(0.01)		2/27		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs757589399	.												T	3	4	48	150993838	150993838	G	T	1	0	0	0	0	1	0	0	0	10589	1232	43	2		2	NOS3	7	150993838	Missense_Mutation	SNP	G	C3N-00545_TP	8126817	150993838	8352135	157	15102											
VIPR2	0	.	GRCh38	chr7	159031993	159031993	+	Missense_Mutation	SNP	A	A	T																															ggtatttggaggagatgctgAtgggaaacacggcaaacacc																								novel		C3N-00545_TP	C3N-00545_NB	A	A																c.1046T>A	p.Ile349Asn	p.I349N	ENST00000262178	11/13	673	612	61	332	332	0	strelka-varscan-mutect	VIPR2,missense_variant,p.Ile349Asn,ENST00000262178,NM_003382.4,NM_001304522.1;VIPR2,missense_variant,p.Ile490Asn,ENST00000402066,;VIPR2,missense_variant,p.Ile333Asn,ENST00000377633,NM_001308259.1;LINC00689,downstream_gene_variant,,ENST00000413238,;	T	ENST00000262178	Transcript	missense_variant	1232/3944	1046/1317	349/438	I/N	aTc/aAc		1		-1	VIPR2	HGNC	HGNC:12695	protein_coding	YES	CCDS5950.1	ENSP00000262178	P41587	X5D7Q6	UPI0000055A9A	NM_003382.4,NM_001304522.1	tolerated(0.15)		11/13		Gene3D:1.20.1070.10,Pfam_domain:PF00002,Prints_domain:PR01155,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF27,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	159031993	159031993	A	T	1	0	0	0	0	1	0	0	0	17717	333	12	4		4	VIPR2	7	159031993	Missense_Mutation	SNP	A	C3N-00545_TP	8038155	159031993	313980	158	15103	325	2									
VIPR2	0	.	GRCh38	chr7	159031995	159031995	+	Silent	SNP	G	G	T																															tatttggaggagatgctgatGggaaacacggcaaacaccat																								novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1044C>A	p.=	p.P348P	ENST00000262178	11/13	676	617	59	332	332	0	strelka-varscan-mutect	VIPR2,synonymous_variant,p.=,ENST00000262178,NM_003382.4,NM_001304522.1;VIPR2,synonymous_variant,p.=,ENST00000402066,;VIPR2,synonymous_variant,p.=,ENST00000377633,NM_001308259.1;LINC00689,downstream_gene_variant,,ENST00000413238,;	T	ENST00000262178	Transcript	synonymous_variant	1230/3944	1044/1317	348/438	P	ccC/ccA		1		-1	VIPR2	HGNC	HGNC:12695	protein_coding	YES	CCDS5950.1	ENSP00000262178	P41587	X5D7Q6	UPI0000055A9A	NM_003382.4,NM_001304522.1			11/13		Gene3D:1.20.1070.10,Pfam_domain:PF00002,Prints_domain:PR01155,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF27,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	159031995	159031995	G	T	1	0	0	0	0	0	0	0	1	17717	1335	47	2		2	VIPR2	7	159031995	Silent	SNP	G	C3N-00545_TP	2	159031995	313978	159	15104	325	2									
DEFA6	0	.	GRCh38	chr8	6925894	6925894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaaaggagacggcaaagtCctggtcatttgccccacgct	10	8	11	12	2	1	1	1	0	0	1	2	2	2	1	3	3	2	3	3	3	2	1	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.142G>T	p.Asp48Tyr	p.D48Y	ENST00000297436	1/2	302	266	36	164	164	0	strelka-varscan-mutect	DEFA6,missense_variant,p.Asp48Tyr,ENST00000297436,NM_001926.3;GS1-24F4.3,upstream_gene_variant,,ENST00000526235,;	A	ENST00000297436	Transcript	missense_variant	183/469	142/303	48/100	D/Y	Gac/Tac		1		-1	DEFA6	HGNC	HGNC:2765	protein_coding	YES	CCDS5960.1	ENSP00000297436	Q01524		UPI0000129125	NM_001926.3	deleterious(0)		1/2		Pfam_domain:PF00879,PIRSF_domain:PIRSF001875,hmmpanther:PTHR11876,hmmpanther:PTHR11876:SF3																	MODERATE	1	SNV	1			1										PASS		rs1205525448	.												A	3	1	48	6925894	6925894	C	A	1	0	0	0	0	1	0	0	0	4194	855	30	2		2	DEFA6	8	6925894	Missense_Mutation	SNP	C	C3N-00545_TP		6925894	138212742	160	15105											
USP17L1	0	.	GRCh38	chr8	7333047	7333047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacacttttgacccttacCtggacatcgccctggatatc	9	11	7	14	1	0	2	0	1	0	1	2	4	0	4	3	2	1	0	3	2	2	4	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.661C>A	p.Leu221Met	p.L221M	ENST00000529559	1/1	462	408	54	410	410	0	varscan-mutect	USP17L1,missense_variant,p.Leu221Met,ENST00000529559,NM_001256873.1;USP17L4,upstream_gene_variant,,ENST00000526929,NM_001256874.1;FAM66B,intron_variant,,ENST00000606573,;FAM66B,intron_variant,,ENST00000529456,;	A	ENST00000529559	Transcript	missense_variant	661/1593	661/1593	221/530	L/M	Ctg/Atg		1		1	USP17L1	HGNC	HGNC:37182	protein_coding	YES	CCDS78298.1	ENSP00000485364	Q7RTZ2		UPI00001D9634	NM_001256873.1	deleterious(0)		1/1		Gene3D:1nbfA02,Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF511,Superfamily_domains:SSF54001																	MODERATE		SNV				1										PASS		rs1354254738	.												A	3	1	48	7333047	7333047	C	A	1	0	0	0	0	1	0	0	0	17582	680	24	2		2	USP17L1	8	7333047	Missense_Mutation	SNP	C	C3N-00545_TP	407153	7333047	137805589	161	15106											
RP1L1	0	.	GRCh38	chr8	10622839	10622839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgagcagtggggtttctCtcctgtggccggcctggtcc	2	12	15	12	1	1	1	0	1	1	0	4	1	3	1	4	5	2	3	4	5	0	1	rs767785821		C3N-00545_TP	C3N-00545_NB	C	C																c.363G>C	p.Glu121Asp	p.E121D	ENST00000382483	2/4	213	180	33	171	171	0	strelka-varscan-mutect	RP1L1,missense_variant,p.Glu121Asp,ENST00000382483,NM_178857.5;RP1L1,non_coding_transcript_exon_variant,,ENST00000329335,;	G	ENST00000382483	Transcript	missense_variant	587/7973	363/7203	121/2400	E/D	gaG/gaC	rs767785821,COSM323115	1		-1	RP1L1	HGNC	HGNC:15946	protein_coding	YES	CCDS43708.1	ENSP00000371923		A6NKC6	UPI00001AF9CC	NM_178857.5	deleterious(0.04)		2/4		hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF3											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs767785821	.												G	3	3	48	10622839	10622839	C	G	1	0	0	0	0	1	0	0	0	13773	912	32	4		4	RP1L1	8	10622839	Missense_Mutation	SNP	C	C3N-00545_TP	3289792	10622839	134515797	162	15107											
PINX1	0	.	GRCh38	chr8	10765645	10765645	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcttcttcttggccactCgctcctgggcctcggccctc	1	12	9	19	3	3	0	0	0	3	0	7	0	4	0	4	3	0	2	4	3	0	3	rs769563460		C3N-00545_TP	C3N-00545_NB	C	C																c.743G>T	p.Arg248Leu	p.R248L	ENST00000314787	7/7	502	443	59	285	284	1	strelka-varscan-mutect	PINX1,missense_variant,p.Arg248Leu,ENST00000314787,NM_017884.5;PINX1,3_prime_UTR_variant,,ENST00000519088,NM_001284356.1;CTD-2135J3.4,intron_variant,,ENST00000554914,;PINX1,downstream_gene_variant,,ENST00000524114,;CTD-2135J3.3,intron_variant,,ENST00000519568,;CTD-2135J3.3,downstream_gene_variant,,ENST00000506149,;PINX1,downstream_gene_variant,,ENST00000523559,;	A	ENST00000314787	Transcript	missense_variant	863/1545	743/987	248/328	R/L	cGa/cTa	rs769563460	1		-1	PINX1	HGNC	HGNC:30046	protein_coding	YES	CCDS47801.1	ENSP00000318966	Q96BK5		UPI0000001BC7	NM_017884.5	tolerated(0.57)		7/7		hmmpanther:PTHR23149,hmmpanther:PTHR23149:SF12																	MODERATE	1	SNV	1			1										PASS		rs769563460	.												A	3	1	48	10765645	10765645	C	A	1	0	0	0	0	1	0	0	0	12029	884	31	1		1	PINX1	8	10765645	Missense_Mutation	SNP	C	C3N-00545_TP	142806	10765645	134372991	163	15108											
ZNF703	0	.	GRCh38	chr8	37698626	37698626	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctactattcgccatacgcGctgtatggacagagactagc	10	9	9	13	3	0	1	0	0	0	1	1	3	0	2	2	1	3	2	2	1	5	6	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1725G>T	p.=	p.A575A	ENST00000331569	2/2	113	98	15	61	61	0	strelka-varscan-mutect	ZNF703,synonymous_variant,p.=,ENST00000331569,NM_025069.2;	T	ENST00000331569	Transcript	synonymous_variant	1954/3349	1725/1773	575/590	A	gcG/gcT		1		1	ZNF703	HGNC	HGNC:25883	protein_coding	YES	CCDS6094.1	ENSP00000332325	Q9H7S9		UPI0000073D30	NM_025069.2			2/2		hmmpanther:PTHR12522,hmmpanther:PTHR12522:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	37698626	37698626	G	T	1	0	0	0	0	0	0	0	1	18679	1074	38	1		1	ZNF703	8	37698626	Silent	SNP	G	C3N-00545_TP	26932981	37698626	107440010	164	15109											
ST18	0	.	GRCh38	chr8	52172190	52172190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggtcttttttatgatctGttaaaacatactttgggact	11	18	7	5	0	2	1	0	1	2	0	2	2	2	2	0	2	2	1	0	2	5	7	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.671C>A	p.Thr224Lys	p.T224K	ENST00000276480	10/26	284	246	38	99	99	0	strelka-varscan-mutect	ST18,missense_variant,p.Thr224Lys,ENST00000276480,NM_014682.2;ST18,missense_variant,p.Thr224Lys,ENST00000517580,;ST18,downstream_gene_variant,,ENST00000520257,;ST18,missense_variant,p.Thr224Lys,ENST00000521582,;ST18,3_prime_UTR_variant,,ENST00000522251,;ST18,3_prime_UTR_variant,,ENST00000521824,;	T	ENST00000276480	Transcript	missense_variant	1355/6187	671/3144	224/1047	T/K	aCa/aAa		1		-1	ST18	HGNC	HGNC:18695	protein_coding	YES	CCDS6149.1	ENSP00000276480	O60284		UPI0000046C30	NM_014682.2	tolerated(0.92)		10/26		hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816																	MODERATE	1	SNV	1			1										PASS		rs1220424516	.												T	3	4	48	52172190	52172190	G	T	1	0	0	0	0	1	0	0	0	15590	1377	48	2		2	ST18	8	52172190	Missense_Mutation	SNP	G	C3N-00545_TP	14473564	52172190	92966446	165	15110											
CYP7B1	0	.	GRCh38	chr8	64615949	64615949	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaaacaataacttttcCatatatagttgtaaatgtga	16	14	5	6	0	1	1	1	1	0	0	2	1	2	1	1	0	2	2	1	0	8	8	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.592G>T	p.Gly198Ter	p.G198*	ENST00000310193	3/6	314	261	53	79	78	1	strelka-varscan-mutect	CYP7B1,stop_gained,p.Gly198Ter,ENST00000310193,NM_004820.3;CYP7B1,upstream_gene_variant,,ENST00000523954,;	A	ENST00000310193	Transcript	stop_gained	766/2202	592/1521	198/506	G/*	Gga/Tga		1		-1	CYP7B1	HGNC	HGNC:2652	protein_coding	YES	CCDS6180.1	ENSP00000310721	O75881		UPI0000128218	NM_004820.3			3/6		hmmpanther:PTHR24304:SF0,hmmpanther:PTHR24304,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,Pfam_domain:PF00067,Superfamily_domains:SSF48264																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	48	64615949	64615949	C	A	1	0	0	0	0	0	1	0	0	4000	603	21	2		2	CYP7B1	8	64615949	Nonsense_Mutation	SNP	C	C3N-00545_TP	12443759	64615949	80522687	166	15111											
PI15	0	.	GRCh38	chr8	74849134	74849134	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggggcaattggattggaGaagcaccatataaagtaggg	14	8	14	5	0	0	1	0	0	0	1	0	3	0	2	1	5	1	3	1	5	7	6	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.658G>T	p.Glu220Ter	p.E220*	ENST00000260113	6/6	177	162	15	32	32	0	strelka-mutect	PI15,stop_gained,p.Glu220Ter,ENST00000260113,NM_001324403.1,NM_015886.3;PI15,stop_gained,p.Glu220Ter,ENST00000523773,;RP11-758M4.4,intron_variant,,ENST00000518128,;RP11-758M4.4,intron_variant,,ENST00000523860,;RP11-758M4.4,intron_variant,,ENST00000522914,;	T	ENST00000260113	Transcript	stop_gained	837/6732	658/777	220/258	E/*	Gaa/Taa		1		1	PI15	HGNC	HGNC:8946	protein_coding	YES	CCDS6218.1	ENSP00000260113	O43692		UPI00000422F7	NM_001324403.1,NM_015886.3			6/6		Gene3D:3.40.33.10,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF63,Superfamily_domains:SSF55797																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	48	74849134	74849134	G	T	1	0	0	0	0	0	1	0	0	11957	943	33	2		2	PI15	8	74849134	Nonsense_Mutation	SNP	G	C3N-00545_TP	10233185	74849134	70289502	167	15112											
CNGB3	0	.	GRCh38	chr8	86726588	86726588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctggcactgttccagttGgttctgctgcattttgaggg	4	15	13	9	0	2	1	0	1	2	0	3	1	3	1	1	3	2	7	1	3	0	5	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.281C>A	p.Pro94Gln	p.P94Q	ENST00000320005	3/18	911	779	132	423	422	1	strelka-varscan-mutect	CNGB3,missense_variant,p.Pro94Gln,ENST00000320005,NM_019098.4;RP11-386D6.1,intron_variant,,ENST00000519041,;CNGB3,non_coding_transcript_exon_variant,,ENST00000519777,;	T	ENST00000320005	Transcript	missense_variant	329/4347	281/2430	94/809	P/Q	cCa/cAa		1		-1	CNGB3	HGNC	HGNC:2153	protein_coding	YES	CCDS6244.1	ENSP00000316605	Q9NQW8		UPI000014076F	NM_019098.4	deleterious(0.02)		3/18		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF385																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	86726588	86726588	G	T	1	0	0	0	0	1	0	0	0	3381	1348	47	2		2	CNGB3	8	86726588	Missense_Mutation	SNP	G	C3N-00545_TP	11877454	86726588	58412048	168	15113											
RUNX1T1	0	.	GRCh38	chr8	91960377	91960377	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgcaggtgtgtctccCtgctgctgggcctgcagggt	3	11	15	12	0	1	1	0	1	1	0	2	1	1	1	2	3	4	4	2	3	0	0			C3N-00545_TP	C3N-00545_NB	C	C																c.1857G>T	p.Gln619His	p.Q619H	ENST00000436581	12/12	1006	807	199	544	544	0	strelka-varscan-mutect	RUNX1T1,missense_variant,p.Gln560His,ENST00000613302,NM_001198630.1,NM_001198627.1;RUNX1T1,missense_variant,p.Gln560His,ENST00000617740,NM_001198629.1,NM_001198626.1;RUNX1T1,missense_variant,p.Gln560His,ENST00000523629,NM_175634.2;RUNX1T1,missense_variant,p.Gln560His,ENST00000614812,NM_001198631.1;RUNX1T1,missense_variant,p.Gln619His,ENST00000436581,NM_001198679.1;RUNX1T1,missense_variant,p.Gln533His,ENST00000613886,NM_001198632.1;RUNX1T1,missense_variant,p.Gln540His,ENST00000615601,NM_001198633.1;RUNX1T1,missense_variant,p.Gln560His,ENST00000265814,NM_001198628.1;RUNX1T1,missense_variant,p.Gln533His,ENST00000396218,NM_004349.3;RUNX1T1,missense_variant,p.Gln533His,ENST00000518844,NM_001198625.1;RUNX1T1,missense_variant,p.Gln523His,ENST00000422361,NM_175636.2;RUNX1T1,missense_variant,p.Gln523His,ENST00000360348,NM_175635.2;RUNX1T1,missense_variant,p.Gln571His,ENST00000520724,NM_001198634.1;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000521078,;RUNX1T1,downstream_gene_variant,,ENST00000521751,;	A	ENST00000436581	Transcript	missense_variant	2044/7454	1857/1992	619/663	Q/H	caG/caT	COSM5610567,COSM5610568,COSM5610569	1		-1	RUNX1T1	HGNC	HGNC:1535	protein_coding	YES	CCDS75766.1	ENSP00000402257		A0A0A0MSU1	UPI0001E7B0BD	NM_001198679.1	deleterious(0.04)		12/12		hmmpanther:PTHR10379:SF5,hmmpanther:PTHR10379,Prints_domain:PR01876											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		rs1300432714	.												A	3	1	48	91960377	91960377	C	A	1	0	0	0	0	1	0	0	0	14008	680	24	2		2	RUNX1T1	8	91960377	Missense_Mutation	SNP	C	C3N-00545_TP	5233789	91960377	53178259	169	15114											
VPS13B	0	.	GRCh38	chr8	99156711	99156711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaccttctgataacctgCttcattattgttatgtacac	10	16	4	11	0	3	1	2	1	1	0	3	1	3	1	2	0	4	3	2	0	5	7	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.2176C>T	p.Leu726Phe	p.L726F	ENST00000358544	15/62	277	236	41	71	71	0	strelka-varscan-mutect	VPS13B,missense_variant,p.Leu726Phe,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Leu726Phe,ENST00000357162,NM_152564.4;VPS13B,missense_variant,p.Leu726Phe,ENST00000355155,NM_015243.2;VPS13B,non_coding_transcript_exon_variant,,ENST00000521932,;VPS13B,missense_variant,p.Leu726Phe,ENST00000496144,;	T	ENST00000358544	Transcript	missense_variant	2287/14094	2176/12069	726/4022	L/F	Ctt/Ttt		1		1	VPS13B	HGNC	HGNC:2183	protein_coding	YES	CCDS6280.1	ENSP00000351346	Q7Z7G8		UPI00001D2D35	NM_017890.4	deleterious(0)		15/62		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	99156711	99156711	C	T	1	0	0	0	0	1	0	0	0	17737	797	28	3		3	VPS13B	8	99156711	Missense_Mutation	SNP	C	C3N-00545_TP	7196334	99156711	45981925	170	15115											
ZFPM2	0	.	GRCh38	chr8	105802704	105802704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactatctggcccacaagcaGaatttctgcccggttactgc	10	10	8	13	1	2	1	0	0	2	1	2	1	2	1	2	2	5	2	2	2	5	3			C3N-00545_TP	C3N-00545_NB	G	G																c.2622G>T	p.Gln874His	p.Q874H	ENST00000407775	8/8	689	632	57	411	410	1	strelka-varscan-mutect	ZFPM2,missense_variant,p.Gln874His,ENST00000407775,NM_012082.3;ZFPM2,missense_variant,p.Gln742His,ENST00000520492,;ZFPM2,missense_variant,p.Gln742His,ENST00000517361,;ZFPM2-AS1,intron_variant,,ENST00000524045,;ZFPM2-AS1,intron_variant,,ENST00000520433,;ZFPM2-AS1,intron_variant,,ENST00000518932,;ZFPM2-AS1,intron_variant,,ENST00000520594,;ZFPM2-AS1,intron_variant,,ENST00000509144,;ZFPM2-AS1,intron_variant,,ENST00000521622,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;ZFPM2-AS1,intron_variant,,ENST00000520078,;	T	ENST00000407775	Transcript	missense_variant	2872/4700	2622/3456	874/1151	Q/H	caG/caT	COSM264839	1		1	ZFPM2	HGNC	HGNC:16700	protein_coding	YES	CCDS47908.1	ENSP00000384179	Q8WW38		UPI000057A0B4	NM_012082.3	deleterious(0.04)		8/8		hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	48	105802704	105802704	G	T	1	0	0	0	0	1	0	0	0	18236	933	33	2		2	ZFPM2	8	105802704	Missense_Mutation	SNP	G	C3N-00545_TP	6645993	105802704	39335932	171	15116											
CSMD3	0	.	GRCh38	chr8	112301954	112301955	+	Frame_Shift_Ins	INS	-	-	A																															tggaggtgtaggtagttctcINScacaggaaataactttaaaa																								novel		C3N-00545_TP	C3N-00545_NB	-	-																c.8278_8279insT	p.Gly2760ValfsTer11	p.G2760Vfs*11	ENST00000297405	53/71	331	300	31	94	94	0	varindel-pindel	CSMD3,frameshift_variant,p.Gly2760ValfsTer11,ENST00000297405,NM_198123.1;CSMD3,frameshift_variant,p.Gly2720ValfsTer11,ENST00000343508,NM_198124.1;CSMD3,frameshift_variant,p.Gly2591ValfsTer11,ENST00000455883,NM_052900.2;CSMD3,frameshift_variant,p.Gly2030ValfsTer11,ENST00000339701,;	A	ENST00000297405	Transcript	frameshift_variant	8523-8524/13212	8278-8279/11124	2760/3707	G/VX	gga/gTga		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			53/71		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	48	112301954	112301954	-	A	1	0	1	1	0	0	0	0	0	3747	855	30	0		0	CSMD3	8	112301954	Frame_Shift_Ins	INS	-	C3N-00545_TP	6499250	112301954	32836682	172	15117											
TRPS1	0	.	GRCh38	chr8	115414668	115414668	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtctcatgtacttttctatAggactgcctctctcagaact	8	15	7	11	0	4	1	2	0	3	1	6	2	4	2	1	2	3	1	1	2	4	5	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.3240T>A	p.=	p.P1080P	ENST00000395715	7/7	918	741	177	312	312	0	strelka-varscan-mutect	TRPS1,synonymous_variant,p.=,ENST00000395715,NM_014112.4,NM_001282903.2;TRPS1,synonymous_variant,p.=,ENST00000220888,;TRPS1,synonymous_variant,p.=,ENST00000520276,NM_001282902.2;TRPS1,synonymous_variant,p.=,ENST00000519076,;TRPS1,synonymous_variant,p.=,ENST00000518018,;	T	ENST00000395715	Transcript	synonymous_variant	3818/9990	3240/3885	1080/1294	P	ccT/ccA		1		-1	TRPS1	HGNC	HGNC:12340	protein_coding	YES	CCDS6318.2	ENSP00000379065	Q9UHF7		UPI00002104B8	NM_014112.4,NM_001282903.2			7/7		hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF176																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	115414668	115414668	A	T	1	0	0	0	0	0	0	0	1	17099	407	15	4		4	TRPS1	8	115414668	Silent	SNP	A	C3N-00545_TP	3112714	115414668	29723968	173	15118											
FER1L6	0	.	GRCh38	chr8	123966202	123966202	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgccagctggtgggtgagaAcattgacccagttgtgacca	9	9	13	10	1	0	3	0	3	0	1	1	4	0	3	3	2	2	2	3	2	1	2	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.296A>T	p.Asn99Ile	p.N99I	ENST00000522917	5/41	479	407	72	202	201	1	strelka-varscan-mutect	FER1L6,missense_variant,p.Asn99Ile,ENST00000522917,NM_001039112.2;	T	ENST00000522917	Transcript	missense_variant	502/6051	296/5574	99/1857	N/I	aAc/aTc		1		1	FER1L6	HGNC	HGNC:28065	protein_coding	YES	CCDS43767.1	ENSP00000428280	Q2WGJ9		UPI0000E9B4AA	NM_001039112.2	deleterious(0)		5/41		PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF37,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	123966202	123966202	A	T	1	0	0	0	0	1	0	0	0	5678	43	2	4		4	FER1L6	8	123966202	Missense_Mutation	SNP	A	C3N-00545_TP	8551534	123966202	21172434	174	15119											
PTPRD	0	.	GRCh38	chr9	8500910	8500910	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaaatctcgtgaggctTgtcatcttccccatccactg	8	12	6	15	1	3	1	1	1	2	0	7	1	6	1	4	1	0	1	4	1	2	2	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.1972A>C	p.Lys658Gln	p.K658Q	ENST00000381196	21/43	680	607	73	266	266	0	strelka-varscan-mutect	PTPRD,missense_variant,p.Lys658Gln,ENST00000381196,NM_002839.3;PTPRD,missense_variant,p.Lys658Gln,ENST00000356435,;PTPRD,missense_variant,p.Lys658Gln,ENST00000540109,;PTPRD,intron_variant,,ENST00000355233,NM_130392.3;PTPRD,intron_variant,,ENST00000397617,;PTPRD,intron_variant,,ENST00000397611,NM_001040712.2;PTPRD,intron_variant,,ENST00000537002,NM_130393.3;PTPRD,intron_variant,,ENST00000486161,NM_130391.3;PTPRD,intron_variant,,ENST00000397606,NM_001171025.1;PTPRD,non_coding_transcript_exon_variant,,ENST00000471274,;	G	ENST00000381196	Transcript	missense_variant	2516/9911	1972/5739	658/1912	K/Q	Aag/Cag		1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3	tolerated(0.6)		21/43		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	48	8500910	8500910	T	G	1	0	0	0	0	1	0	0	0	12953	1821	63	5		5	PTPRD	9	8500910	Missense_Mutation	SNP	T	C3N-00545_TP		8500910	129893807	175	15120											
OR2S2	0	.	GRCh38	chr9	35957639	35957639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaccacggaagcagcacCaccaatagcccaggagctgg	12	4	12	13	1	0	0	0	0	0	0	0	2	0	2	4	3	5	4	4	3	4	2	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.460G>T	p.Gly154Cys	p.G154C	ENST00000341959	1/1	794	715	79	465	464	1	strelka-varscan-mutect	OR2S2,missense_variant,p.Gly154Cys,ENST00000341959,NM_019897.2;	A	ENST00000341959	Transcript	missense_variant	516/1047	460/960	154/319	G/C	Ggt/Tgt		1		-1	OR2S2	HGNC	HGNC:8276	protein_coding	YES	CCDS6596.2	ENSP00000344040	Q9NQN1		UPI000003FF74	NM_019897.2	tolerated(0.19)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF176,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	48	35957639	35957639	C	A	1	0	0	0	0	1	0	0	0	11093	594	21	2		2	OR2S2	9	35957639	Missense_Mutation	SNP	C	C3N-00545_TP	27456729	35957639	102437078	176	15121											
SPATA31A7	0	.	GRCh38	chr9	61192592	61192592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatctggcctccacccCatcaccaggcccaatgacca	10	6	7	18	0	3	1	2	1	1	0	4	2	4	2	7	3	0	0	7	3	1	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.506C>A	p.Pro169Gln	p.P169Q	ENST00000619167	4/4	251	221	30	204	203	1	varscan-mutect	SPATA31A7,missense_variant,p.Pro169Gln,ENST00000619167,NM_015667.2;RP11-101E5.6,downstream_gene_variant,,ENST00000611332,;SPATA31A7,non_coding_transcript_exon_variant,,ENST00000618860,;SPATA31A7,non_coding_transcript_exon_variant,,ENST00000619140,;SPATA31A7,non_coding_transcript_exon_variant,,ENST00000622751,;SPATA31A7,non_coding_transcript_exon_variant,,ENST00000376458,;SPATA31A7,non_coding_transcript_exon_variant,,ENST00000614013,;SPATA31A7,non_coding_transcript_exon_variant,,ENST00000611017,;SPATA31A7,intron_variant,,ENST00000621711,;SPATA31A7,downstream_gene_variant,,ENST00000622899,;	A	ENST00000619167	Transcript	missense_variant	568/4256	506/4044	169/1347	P/Q	cCa/cAa		1		1	SPATA31A7	HGNC	HGNC:32007	protein_coding	YES	CCDS75838.1	ENSP00000484807	Q8IWB4		UPI0000457748	NM_015667.2	tolerated(0.09)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF22																	MODERATE	1	SNV	1			1										PASS		rs1436449231	.												A	3	1	48	61192592	61192592	C	A	1	0	0	0	0	1	0	0	0	15346	594	21	2		2	SPATA31A7	9	61192592	Missense_Mutation	SNP	C	C3N-00545_TP	25234953	61192592	77202125	177	15122											
GAS1	0	.	GRCh38	chr9	86946314	86946314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgcccgcgccggggccgcCcgcgccgccgccgctcgtcc	0	2	14	25	11	0	0	0	0	0	0	2	0	1	0	9	2	0	1	9	2	0	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.466G>T	p.Gly156Cys	p.G156C	ENST00000298743	1/1	218	184	34	126	126	0	strelka-varscan-mutect	GAS1,missense_variant,p.Gly156Cys,ENST00000298743,NM_002048.2;GAS1RR,upstream_gene_variant,,ENST00000415801,;	A	ENST00000298743	Transcript	missense_variant	876/2827	466/1038	156/345	G/C	Ggc/Tgc		1		-1	GAS1	HGNC	HGNC:4165	protein_coding	YES	CCDS6674.1	ENSP00000298743	P54826		UPI0000140B67	NM_002048.2	deleterious(0.02)		1/1		hmmpanther:PTHR16840,hmmpanther:PTHR16840:SF3,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												A	3	1	48	86946314	86946314	C	A	1	0	0	0	0	1	0	0	0	6114	623	22	2		2	GAS1	9	86946314	Missense_Mutation	SNP	C	C3N-00545_TP	25753722	86946314	51448403	178	15123											
WNK2	0	.	GRCh38	chr9	93292361	93292361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagagatggaaggcaggtgGcctcagactcccatgtggtc	10	7	14	10	0	1	2	1	0	0	2	3	4	2	3	2	5	0	1	2	5	1	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.5101G>T	p.Ala1701Ser	p.A1701S	ENST00000297954	22/30	497	431	66	286	285	1	strelka-varscan-mutect	WNK2,missense_variant,p.Ala1660Ser,ENST00000432730,;WNK2,missense_variant,p.Ala1701Ser,ENST00000297954,NM_001282394.1;WNK2,missense_variant,p.Ala1664Ser,ENST00000395477,NM_006648.3;WNK2,missense_variant,p.Ala1268Ser,ENST00000411624,;WNK2,missense_variant,p.Ala28Ser,ENST00000427277,;WNK2,missense_variant,p.Ala461Ser,ENST00000448251,;WNK2,missense_variant,p.Ala186Ser,ENST00000453718,;WNK2,upstream_gene_variant,,ENST00000474009,;WNK2,upstream_gene_variant,,ENST00000479696,;	T	ENST00000297954	Transcript	missense_variant	5101/7138	5101/6894	1701/2297	A/S	Gcc/Tcc		1		1	WNK2	HGNC	HGNC:14542	protein_coding	YES	CCDS75858.1	ENSP00000297954	Q9Y3S1		UPI0000236D76	NM_001282394.1	tolerated(0.25)		22/30		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	93292361	93292361	G	T	1	0	0	0	0	1	0	0	0	17934	1203	42	2		2	WNK2	9	93292361	Missense_Mutation	SNP	G	C3N-00545_TP	6346047	93292361	45102356	179	15124											
ERCC6L2	0	.	GRCh38	chr9	95881075	95881075	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccctaggaatcttatatttGatgatgaagatttagaaaaa	16	13	8	4	0	1	5	0	3	1	2	1	6	1	6	1	1	0	0	1	1	8	6	rs751694710		C3N-00545_TP	C3N-00545_NB	G	G																c.286G>C	p.Asp96His	p.D96H	ENST00000288985	2/14	148	137	11	28	28	0	strelka-mutect	ERCC6L2,missense_variant,p.Asp96His,ENST00000288985,NM_001010895.2;ERCC6L2,non_coding_transcript_exon_variant,,ENST00000466840,;	C	ENST00000288985	Transcript	missense_variant	591/4564	286/2139	96/712	D/H	Gat/Cat	rs751694710	1		1	ERCC6L2	HGNC	HGNC:26922	protein_coding	YES	CCDS35072.1	ENSP00000288985	Q5T890		UPI000046FE3C	NM_001010895.2	deleterious(0.01)		2/14																			MODERATE	1	SNV	1			1										PASS		rs751694710	.												C	3	2	48	95881075	95881075	G	C	1	0	0	0	0	1	0	0	0	5068	1290	45	4		4	ERCC6L2	9	95881075	Missense_Mutation	SNP	G	C3N-00545_TP	2588714	95881075	42513642	180	15125											
OR13C8	0	.	GRCh38	chr9	104569552	104569552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctatgtggccatctgctacCcactgagataccctgtcatc	8	11	8	14	0	2	1	1	1	1	1	3	2	2	1	3	1	3	2	3	1	3	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.385C>A	p.Pro129Thr	p.P129T	ENST00000335040	1/1	415	350	65	289	289	0	strelka-varscan-mutect	OR13C8,missense_variant,p.Pro129Thr,ENST00000335040,NM_001004483.1;	A	ENST00000335040	Transcript	missense_variant	385/963	385/963	129/320	P/T	Cca/Aca		1		1	OR13C8	HGNC	HGNC:15103	protein_coding	YES	CCDS35090.1	ENSP00000334068	Q8NGS7	A0A126GVC7	UPI000004B203	NM_001004483.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF87,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	48	104569552	104569552	C	A	1	0	0	0	0	1	0	0	0	11014	623	22	2		2	OR13C8	9	104569552	Missense_Mutation	SNP	C	C3N-00545_TP	8688477	104569552	33825165	181	15126											
TRIM32	0	.	GRCh38	chr9	116698025	116698025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggctcagcgaggctGtggggctgctcatgtgtcgg	4	9	18	10	2	2	0	2	0	0	0	3	1	2	0	0	5	3	5	0	5	0	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.283G>T	p.Val95Leu	p.V95L	ENST00000450136	2/2	845	769	76	579	579	0	strelka-varscan-mutect	TRIM32,missense_variant,p.Val95Leu,ENST00000450136,NM_001099679.1,NM_012210.3;TRIM32,missense_variant,p.Val95Leu,ENST00000373983,;TRIM32,missense_variant,p.Val95Leu,ENST00000411410,;ASTN2,intron_variant,,ENST00000313400,;ASTN2,intron_variant,,ENST00000361209,NM_014010.4;ASTN2,intron_variant,,ENST00000361477,NM_198187.3;ASTN2,intron_variant,,ENST00000373986,;	T	ENST00000450136	Transcript	missense_variant	444/3717	283/1962	95/653	V/L	Gtg/Ttg		1		1	TRIM32	HGNC	HGNC:16380	protein_coding	YES	CCDS6817.1	ENSP00000408292	Q13049	A0A024R843	UPI000012CDB9	NM_001099679.1,NM_012210.3	tolerated(0.11)		2/2		PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF363,SMART_domains:SM00336																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	116698025	116698025	G	T	1	0	0	0	0	1	0	0	0	16995	1377	48	2		2	TRIM32	9	116698025	Missense_Mutation	SNP	G	C3N-00545_TP	12128473	116698025	21696692	182	15127											
ASTN2	0	.	GRCh38	chr9	117214428	117214428	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtgggtcacctggctGccaaactcgtcctcgcggga	7	8	14	12	3	1	1	1	0	0	1	4	2	2	2	3	3	2	1	3	3	1	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.945C>A	p.=	p.G315G	ENST00000361209	3/22	175	160	15	132	132	0	strelka-varscan-mutect	ASTN2,synonymous_variant,p.=,ENST00000313400,;ASTN2,synonymous_variant,p.=,ENST00000361209,NM_014010.4;ASTN2,synonymous_variant,p.=,ENST00000373986,;ASTN2,5_prime_UTR_variant,,ENST00000361477,NM_198187.3;	T	ENST00000361209	Transcript	synonymous_variant	1077/4622	945/3867	315/1288	G	ggC/ggA		1		-1	ASTN2	HGNC	HGNC:17021	protein_coding	YES	CCDS6815.1	ENSP00000354504	O75129		UPI00002116D7	NM_014010.4			3/22		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	117214428	117214428	G	T	1	0	0	0	0	0	0	0	1	1212	1306	46	2		2	ASTN2	9	117214428	Silent	SNP	G	C3N-00545_TP	516403	117214428	21180289	183	15128											
ASTN2	0	.	GRCh38	chr9	117214655	117214655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgcttgcgctcttctgggGgatgcggcgacgcttctgcc	2	12	15	12	4	3	0	0	0	3	0	3	2	3	1	1	3	4	3	1	3	0	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.718C>A	p.Pro240Thr	p.P240T	ENST00000361209	3/22	48	42	6	35	35	0	strelka-varscan-mutect	ASTN2,missense_variant,p.Pro240Thr,ENST00000313400,;ASTN2,missense_variant,p.Pro240Thr,ENST00000361209,NM_014010.4;ASTN2,5_prime_UTR_variant,,ENST00000361477,NM_198187.3;ASTN2,upstream_gene_variant,,ENST00000373986,;	T	ENST00000361209	Transcript	missense_variant	850/4622	718/3867	240/1288	P/T	Ccc/Acc		1		-1	ASTN2	HGNC	HGNC:17021	protein_coding	YES	CCDS6815.1	ENSP00000354504	O75129		UPI00002116D7	NM_014010.4	deleterious_low_confidence(0)		3/22		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	117214655	117214655	G	T	1	0	0	0	0	1	0	0	0	1212	1232	43	2		2	ASTN2	9	117214655	Missense_Mutation	SNP	G	C3N-00545_TP	227	117214655	21180062	184	15129											
TLR4	0	.	GRCh38	chr9	117712773	117712773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgtccctgaaccctatGaactttatccaaccaggtgc	10	10	7	14	0	0	2	0	2	0	0	2	3	2	2	5	1	4	0	5	1	5	3			C3N-00545_TP	C3N-00545_NB	G	G																c.645G>T	p.Met215Ile	p.M215I	ENST00000355622	3/3	399	354	45	97	97	0	strelka-varscan-mutect	TLR4,missense_variant,p.Met215Ile,ENST00000355622,NM_138554.4;TLR4,missense_variant,p.Met175Ile,ENST00000394487,NM_003266.3;RNU6-1082P,upstream_gene_variant,,ENST00000364574,;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,downstream_gene_variant,,ENST00000490685,;	T	ENST00000355622	Transcript	missense_variant	746/4844	645/2520	215/839	M/I	atG/atT	COSM3653628	1		1	TLR4	HGNC	HGNC:11850	protein_coding	YES	CCDS6818.1	ENSP00000363089	O00206		UPI0000137057	NM_138554.4	tolerated(1)		3/3		hmmpanther:PTHR24365:SF230,hmmpanther:PTHR24365,Gene3D:3.80.10.10,SMART_domains:SM00369											1						MODERATE	1	SNV	1		1	1										PASS		rs1303455733	.												T	3	4	48	117712773	117712773	G	T	1	0	0	0	0	1	0	0	0	16399	1290	45	2		2	TLR4	9	117712773	Missense_Mutation	SNP	G	C3N-00545_TP	498118	117712773	20681944	185	15130											
MEGF9	0	.	GRCh38	chr9	120607748	120607748	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgaagttttacctttcttGatgcaatttccctcgaggtc	7	16	9	9	1	1	2	0	2	1	0	4	3	2	2	2	2	2	2	2	2	3	5	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1350C>T	p.=	p.I450I	ENST00000373930	5/6	151	136	15	142	140	2	strelka-varscan-mutect	MEGF9,synonymous_variant,p.=,ENST00000373930,NM_001080497.2;	A	ENST00000373930	Transcript	synonymous_variant	1462/6298	1350/1809	450/602	I	atC/atT		1		-1	MEGF9	HGNC	HGNC:3234	protein_coding	YES	CCDS48010.2	ENSP00000363040	Q9H1U4		UPI000045779F	NM_001080497.2			5/6		PROSITE_profiles:PS50027,hmmpanther:PTHR10574,SMART_domains:SM00181																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	48	120607748	120607748	G	A	1	0	0	0	0	0	0	0	1	9404	1280	45	3		3	MEGF9	9	120607748	Silent	SNP	G	C3N-00545_TP	2894975	120607748	17786969	186	15131											
TRAF1	0	.	GRCh38	chr9	120913563	120913563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgacctccaggtcccccGccacttccacggctgcctgc	6	7	8	20	3	0	0	0	0	0	0	4	1	3	0	7	2	2	1	7	2	1	1	rs549316438		C3N-00545_TP	C3N-00545_NB	G	G																c.470C>G	p.Ala157Gly	p.A157G	ENST00000373887	5/8	202	185	17	118	118	0	strelka-varscan-mutect	TRAF1,missense_variant,p.Ala157Gly,ENST00000373887,NM_005658.4;TRAF1,missense_variant,p.Ala157Gly,ENST00000540010,NM_001190945.1;TRAF1,missense_variant,p.Ala35Gly,ENST00000546084,NM_001190947.1;	C	ENST00000373887	Transcript	missense_variant	2916/6324	470/1251	157/416	A/G	gCg/gGg	rs549316438	1		-1	TRAF1	HGNC	HGNC:12031	protein_coding	YES	CCDS6825.1	ENSP00000362994	Q13077		UPI0000001079	NM_005658.4	tolerated(0.39)		5/8		PIRSF_domain:PIRSF015614,hmmpanther:PTHR10131,hmmpanther:PTHR10131:SF29																	MODERATE	1	SNV	1			1										PASS		rs549316438	.												C	3	2	48	120913563	120913563	G	C	1	0	0	0	0	1	0	0	0	16920	1087	38	4		4	TRAF1	9	120913563	Missense_Mutation	SNP	G	C3N-00545_TP	305815	120913563	17481154	187	15132											
LAMC3	0	.	GRCh38	chr9	131057030	131057030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgtcccactggctacacgGgccagttctgtgaatcctgt	7	11	10	13	1	1	1	0	1	1	0	3	1	3	1	3	2	1	2	3	2	2	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.2041G>T	p.Gly681Cys	p.G681C	ENST00000361069	12/28	1009	894	115	646	645	1	strelka-varscan-mutect	LAMC3,missense_variant,p.Gly681Cys,ENST00000361069,NM_006059.3;LAMC3,intron_variant,,ENST00000480883,;	T	ENST00000361069	Transcript	missense_variant	2174/6133	2041/4728	681/1575	G/C	Ggc/Tgc		1		1	LAMC3	HGNC	HGNC:6494	protein_coding	YES	CCDS6938.1	ENSP00000354360	Q9Y6N6		UPI000013D6D3	NM_006059.3	deleterious(0)		12/28		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,SMART_domains:SM00180																	MODERATE	1	SNV	2			1										PASS		rs1254819128	.												T	3	4	48	131057030	131057030	G	T	1	0	0	0	0	1	0	0	0	8520	1232	43	2		2	LAMC3	9	131057030	Missense_Mutation	SNP	G	C3N-00545_TP	10143467	131057030	7337687	188	15133											
GRIN1	0	.	GRCh38	chr9	137156922	137156922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccacatcagcgacgccGtgggcgtggtggcccaggcc	5	4	16	16	5	1	0	1	0	0	0	1	1	1	0	4	5	1	0	4	5	0	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.916G>A	p.Val306Met	p.V306M	ENST00000371553	7/21	408	379	29	224	224	0	strelka-varscan-mutect	GRIN1,missense_variant,p.Val285Met,ENST00000371561,NM_007327.3;GRIN1,missense_variant,p.Val306Met,ENST00000371546,;GRIN1,missense_variant,p.Val306Met,ENST00000371555,;GRIN1,missense_variant,p.Val285Met,ENST00000371550,NM_021569.3;GRIN1,missense_variant,p.Val306Met,ENST00000371553,NM_001185090.1;GRIN1,missense_variant,p.Val306Met,ENST00000371560,NM_001185091.1;GRIN1,missense_variant,p.Val285Met,ENST00000371559,NM_000832.6;GRIN1,missense_variant,p.Arg300His,ENST00000350902,;GRIN1,non_coding_transcript_exon_variant,,ENST00000471122,;GRIN1,upstream_gene_variant,,ENST00000485413,;	A	ENST00000371553	Transcript	missense_variant	922/3751	916/2832	306/943	V/M	Gtg/Atg		1		1	GRIN1	HGNC	HGNC:4584	protein_coding	YES	CCDS55354.1	ENSP00000360608	Q05586		UPI000014AF8E	NM_001185090.1	deleterious(0)		7/21		hmmpanther:PTHR18966:SF214,hmmpanther:PTHR18966,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	137156922	137156922	G	A	1	0	0	0	0	1	0	0	0	6660	1145	40	1		1	GRIN1	9	137156922	Missense_Mutation	SNP	G	C3N-00545_TP	6099892	137156922	1237795	189	15134											
TUBB8	0	.	GRCh38	chr10	47876	47876	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtgtccgacaccttgggCgagggcaggatgctgaatgt	8	8	16	9	3	0	1	0	1	0	0	1	4	1	2	2	4	1	2	2	4	1	1	rs9329305		C3N-00545_TP	C3N-00545_NB	C	C																c.516G>T	p.=	p.S172S	ENST00000568584	4/4	696	644	52	463	462	1	varscan-mutect	TUBB8,synonymous_variant,p.=,ENST00000564130,;TUBB8,synonymous_variant,p.=,ENST00000568584,NM_177987.2;TUBB8,synonymous_variant,p.=,ENST00000568866,;TUBB8,3_prime_UTR_variant,,ENST00000561967,;TUBB8,3_prime_UTR_variant,,ENST00000562809,;TUBB8,3_prime_UTR_variant,,ENST00000567466,;TUBB8,non_coding_transcript_exon_variant,,ENST00000563456,;FAM166AP7,downstream_gene_variant,,ENST00000416477,;	A	ENST00000568584	Transcript	synonymous_variant	867/1790	516/1335	172/444	S	tcG/tcT	rs9329305	1		-1	TUBB8	HGNC	HGNC:20773	protein_coding	YES	CCDS7051.1	ENSP00000456206	Q3ZCM7		UPI000007238E	NM_177987.2			4/4		Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01161,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF55,SMART_domains:SM00864,Superfamily_domains:SSF52490																	LOW	1	SNV	1			1										PASS		rs9329305	.												A	2	1	48	47876	47876	C	A	1	0	0	0	0	0	0	0	1	17271	755	27	1		1	TUBB8	10	47876	Silent	SNP	C	C3N-00545_TP		47876	133749546	190	15135											
CUBN	0	.	GRCh38	chr10	17071548	17071548	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctttctccaggatacaCgttaggaaaaaaaggcgagc	13	9	11	8	2	2	0	0	0	2	0	3	3	2	2	1	4	2	2	1	4	5	4	rs371312044		C3N-00545_TP	C3N-00545_NB	C	C																c.2503G>T	p.Val835Leu	p.V835L	ENST00000377833	19/67	282	264	18	166	166	0	strelka-varscan-mutect	CUBN,missense_variant,p.Val835Leu,ENST00000377833,NM_001081.3;	A	ENST00000377833	Transcript	missense_variant	2569/11949	2503/10872	835/3623	V/L	Gtg/Ttg	rs371312044,COSM916805	1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3	tolerated(0.25)		19/67		PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs371312044	.												A	3	1	48	17071548	17071548	C	A	1	0	0	0	0	1	0	0	0	3861	536	19	1		1	CUBN	10	17071548	Missense_Mutation	SNP	C	C3N-00545_TP	17023672	17071548	116725874	191	15136											
RET	0	.	GRCh38	chr10	43111267	43111267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatcaacgtccagtacaagCtgcattcctctggtgccaac	10	9	8	14	1	2	0	1	0	1	0	4	0	4	0	3	1	6	4	3	1	4	2	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.1324C>A	p.Leu442Met	p.L442M	ENST00000355710	7/20	755	654	101	470	470	0	strelka-varscan-mutect	RET,missense_variant,p.Leu442Met,ENST00000355710,NM_020975.4;RET,missense_variant,p.Leu442Met,ENST00000340058,NM_020630.4;RET,intron_variant,,ENST00000615310,;RET,intron_variant,,ENST00000498820,;RET,downstream_gene_variant,,ENST00000479913,;	A	ENST00000355710	Transcript	missense_variant	1556/5659	1324/3345	442/1114	L/M	Ctg/Atg		1		1	RET	HGNC	HGNC:9967	protein_coding	YES	CCDS7200.1	ENSP00000347942	P07949	A0A024R7T2	UPI00001336E1	NM_020975.4	deleterious(0.01)		7/20		Gene3D:2.60.40.60,PIRSF_domain:PIRSF000631																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	48	43111267	43111267	C	A	1	0	0	0	0	1	0	0	0	13406	796	28	2		2	RET	10	43111267	Missense_Mutation	SNP	C	C3N-00545_TP	26039719	43111267	90686155	192	15137											
AGAP14P	0	.	GRCh38	chr10	46358355	46358355	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaaggaacggtggatcCgttccaaatatgagaagaag	17	6	13	5	2	0	3	0	1	0	3	2	7	2	5	2	3	1	1	2	3	7	2	rs578123382		C3N-00545_TP	C3N-00545_NB	C	C																c.1699C>A	p.Arg567Ser	p.R567S	ENST00000624701	9/9	1270	1137	133	936	936	0	varscan-mutect	AGAP14P,missense_variant,p.Arg567Ser,ENST00000624701,;	A	ENST00000624701	Transcript	missense_variant	1699/2058	1699/2058	567/685	R/S	Cgt/Agt	rs578123382	1		1	AGAP14P	HGNC	HGNC:23660	protein_coding	YES		ENSP00000485140		A0A096LNP0	UPI000514C5BF		deleterious(0.02)		9/9		PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF213,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863																	MODERATE	1	SNV	5			1										PASS		rs578123382	.												A	3	1	48	46358355	46358355	C	A	1	0	0	0	0	1	0	0	0	444	652	23	1		1	AGAP14P	10	46358355	Missense_Mutation	SNP	C	C3N-00545_TP	3247088	46358355	87439067	193	15138											
GDF10	0	.	GRCh38	chr10	47310316	47310316	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagccccgcgcagccccCaacaactcagcggacccccg	8	1	9	23	5	1	0	1	0	0	0	1	2	1	1	7	1	5	1	7	1	2	0	rs577857695		C3N-00545_TP	C3N-00545_NB	C	C																c.840C>T	p.=	p.P280P	ENST00000580279	2/3	332	297	35	182	182	0	strelka-varscan-mutect	GDF10,synonymous_variant,p.=,ENST00000580279,NM_004962.3;	T	ENST00000580279	Transcript	synonymous_variant	1106/2458	840/1437	280/478	P	ccC/ccT	rs577857695	1		1	GDF10	HGNC	HGNC:4215	protein_coding	YES	CCDS73117.1	ENSP00000464145	P55107		UPI0000126A13	NM_004962.3			2/3		PIRSF_domain:PIRSF037403,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF145																	LOW	1	SNV	1			1										PASS		rs577857695	.												T	2	4	48	47310316	47310316	C	T	1	0	0	0	0	0	0	0	1	6184	581	21	3		3	GDF10	10	47310316	Silent	SNP	C	C3N-00545_TP	951961	47310316	86487106	194	15139											
WDFY4	0	.	GRCh38	chr10	48776931	48776931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcaacctgcagcctcagagGgcagccctggccccatcgtt	7	6	11	17	2	1	1	1	0	0	1	2	1	1	1	5	2	4	4	5	2	1	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.3045G>T	p.Arg1015Ser	p.R1015S	ENST00000325239	15/61	509	467	42	263	261	2	strelka-varscan-mutect	WDFY4,missense_variant,p.Arg1015Ser,ENST00000325239,NM_020945.1;	T	ENST00000325239	Transcript	missense_variant	3045/9555	3045/9555	1015/3184	R/S	agG/agT		1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1	tolerated(0.59)		15/61		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	48	48776931	48776931	G	T	1	0	0	0	0	1	0	0	0	17831	1223	43	2		2	WDFY4	10	48776931	Missense_Mutation	SNP	G	C3N-00545_TP	1466615	48776931	85020491	195	15140											
SLC18A3	0	.	GRCh38	chr10	49610784	49610784	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggcccgggcggcggccaCcaagctgtcggaggctgtgg	5	4	18	14	4	0	0	0	0	0	0	1	1	0	1	4	7	1	2	4	7	1	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.44C>A	p.Thr15Asn	p.T15N	ENST00000374115	1/1	162	151	11	73	73	0	strelka-varscan-mutect	SLC18A3,missense_variant,p.Thr15Asn,ENST00000374115,NM_003055.2;CHAT,intron_variant,,ENST00000339797,NM_020984.3;CHAT,upstream_gene_variant,,ENST00000395562,NM_001142933.1;CHAT,upstream_gene_variant,,ENST00000337653,NM_020549.4;CHAT,upstream_gene_variant,,ENST00000351556,NM_020985.3,NM_001142934.1,NM_001142929.1;CHAT,upstream_gene_variant,,ENST00000395559,NM_020986.3;CHAT,upstream_gene_variant,,ENST00000460699,;CHAT,upstream_gene_variant,,ENST00000490270,;CHAT,upstream_gene_variant,,ENST00000481336,;CHAT,upstream_gene_variant,,ENST00000466590,;	A	ENST00000374115	Transcript	missense_variant	484/2420	44/1599	15/532	T/N	aCc/aAc		1		1	SLC18A3	HGNC	HGNC:10936	protein_coding	YES	CCDS7231.1	ENSP00000363229	Q16572		UPI00001F98C1	NM_003055.2	tolerated_low_confidence(0.48)		1/1		hmmpanther:PTHR23506:SF13,hmmpanther:PTHR23506																	MODERATE		SNV				1										PASS		.	.												A	3	1	48	49610784	49610784	C	A	1	0	0	0	0	1	0	0	0	14692	507	18	2		2	SLC18A3	10	49610784	Missense_Mutation	SNP	C	C3N-00545_TP	833853	49610784	84186638	196	15141											
HERC4	0	.	GRCh38	chr10	67990250	67990250	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttctaggttcacaagagCtgtaccaaagggaattgcta	12	12	9	8	0	2	1	1	0	1	1	2	2	2	2	1	2	3	4	1	2	6	7	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.1594G>T	p.Ala532Ser	p.A532S	ENST00000395198	14/26	226	210	16	67	67	0	strelka-mutect	HERC4,missense_variant,p.Ala532Ser,ENST00000395198,NM_022079.2;HERC4,missense_variant,p.Ala422Ser,ENST00000277817,;HERC4,missense_variant,p.Ala532Ser,ENST00000412272,NM_001278185.1;HERC4,missense_variant,p.Ala532Ser,ENST00000373700,NM_015601.3,NM_001278186.1;HERC4,3_prime_UTR_variant,,ENST00000427635,;HERC4,3_prime_UTR_variant,,ENST00000473533,;HERC4,upstream_gene_variant,,ENST00000460168,;	A	ENST00000395198	Transcript	missense_variant	1842/4445	1594/3174	532/1057	A/S	Gct/Tct		1		-1	HERC4	HGNC	HGNC:24521	protein_coding	YES	CCDS41533.1	ENSP00000378624	Q5GLZ8		UPI00004C6F56	NM_022079.2	tolerated(0.31)		14/26		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF285																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	67990250	67990250	C	A	1	0	0	0	0	1	0	0	0	6944	797	28	2		2	HERC4	10	67990250	Missense_Mutation	SNP	C	C3N-00545_TP	18379466	67990250	65807172	197	15142											
COL13A1	0	.	GRCh38	chr10	69872193	69872193	+	Frame_Shift_Del	DEL	G	G	-																															cttcatttcagggtcccactGgaagacccggactcccagta																								novel		C3N-00545_TP	C3N-00545_NB	G	G																c.383delG	p.Gly128GlufsTer67	p.G128Efs*67	ENST00000398978	4/40	355	315	40	160	160	0	sindel-varindel-pindel	COL13A1,frameshift_variant,p.Gly128GlufsTer67,ENST00000398978,NM_001130103.1;COL13A1,frameshift_variant,p.Gly128GlufsTer67,ENST00000354547,NM_080801.3;COL13A1,frameshift_variant,p.Gly128GlufsTer67,ENST00000357811,;COL13A1,frameshift_variant,p.Gly128GlufsTer67,ENST00000522165,NM_080800.3;COL13A1,frameshift_variant,p.Gly128GlufsTer67,ENST00000517713,NM_080802.3;COL13A1,frameshift_variant,p.Gly128GlufsTer38,ENST00000520133,NM_080805.3;COL13A1,intron_variant,,ENST00000520267,NM_080798.3;COL13A1,intron_variant,,ENST00000398969,;COL13A1,frameshift_variant,p.Gly128GlufsTer20,ENST00000479733,;	-	ENST00000398978	Transcript	frameshift_variant	874/3093	382/2154	128/717	G/X	Gga/ga		1		1	COL13A1	HGNC	HGNC:2190	protein_coding	YES	CCDS44419.1	ENSP00000381949	Q5TAT6		UPI000046FD72	NM_001130103.1			4/40		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF537,hmmpanther:PTHR24023																	HIGH	1	deletion	5	1		1										PASS		.	.												-	7	5	48	69872193	69872193	G	-	1	0	1	0	1	0	0	0	0	3458	1349	47	0		0	COL13A1	10	69872193	Frame_Shift_Del	DEL	G	C3N-00545_TP	1881943	69872193	63925229	198	15143											
CDH23	0	.	GRCh38	chr10	71566816	71566816	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagggggcagcgtcctCtactccttccagcccccctc	4	7	12	18	1	1	0	0	0	1	0	5	0	4	0	6	4	3	2	6	4	1	2	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.519C>A	p.=	p.L173L	ENST00000224721	7/70	187	164	23	105	105	0	strelka-varscan-mutect	CDH23,synonymous_variant,p.=,ENST00000224721,NM_022124.5;CDH23,synonymous_variant,p.=,ENST00000622827,;CDH23,synonymous_variant,p.=,ENST00000616684,NM_001171930.1;CDH23,synonymous_variant,p.=,ENST00000398809,;CDH23,synonymous_variant,p.=,ENST00000299366,NM_001171931.1;CDH23,synonymous_variant,p.=,ENST00000461841,NM_052836.3;CDH23,synonymous_variant,p.=,ENST00000398842,;CDH23,upstream_gene_variant,,ENST00000466757,;	A	ENST00000224721	Transcript	synonymous_variant	909/11139	519/10080	173/3359	L	ctC/ctA		1		1	CDH23	HGNC	HGNC:13733	protein_coding			ENSP00000224721		A0A0A0MQS6	UPI0002B831D5	NM_022124.5			7/70		PROSITE_profiles:PS50268,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	5			1										PASS		rs1246506967	.												A	2	1	48	71566816	71566816	C	A	1	0	0	0	0	0	0	0	1	2811	900	32	2		2	CDH23	10	71566816	Silent	SNP	C	C3N-00545_TP	1694623	71566816	62230606	199	15144											
DYDC1	0	.	GRCh38	chr10	80352546	80352546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaactcttgccacttctGcaagaccttgagttaaacag	11	10	9	11	1	2	2	0	1	2	1	2	3	2	2	2	1	4	2	2	1	4	4	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.56C>T	p.Ala19Val	p.A19V	ENST00000372204	3/8	272	250	22	111	111	0	strelka-varscan-mutect	DYDC1,missense_variant,p.Ala19Val,ENST00000454362,;DYDC1,missense_variant,p.Ala19Val,ENST00000372204,NM_138812.3;DYDC1,missense_variant,p.Ala19Val,ENST00000453477,;DYDC1,missense_variant,p.Ala19Val,ENST00000421924,;DYDC1,missense_variant,p.Ala19Val,ENST00000372202,NM_001269053.1;DYDC2,5_prime_UTR_variant,,ENST00000372199,;DYDC2,intron_variant,,ENST00000372197,;DYDC2,intron_variant,,ENST00000372198,NM_001270042.1;DYDC2,upstream_gene_variant,,ENST00000256039,NM_032372.5;DYDC2,upstream_gene_variant,,ENST00000616870,NM_001270041.1;DYDC2,upstream_gene_variant,,ENST00000444807,;DYDC2,upstream_gene_variant,,ENST00000411538,;	A	ENST00000372204	Transcript	missense_variant	221/750	56/534	19/177	A/V	gCa/gTa		1		-1	DYDC1	HGNC	HGNC:23460	protein_coding	YES	CCDS7366.1	ENSP00000361278	Q8WWB3		UPI0000070606	NM_138812.3	deleterious(0.03)		3/8		hmmpanther:PTHR23356,hmmpanther:PTHR23356:SF4,Pfam_domain:PF05186																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	80352546	80352546	G	A	1	0	0	0	0	1	0	0	0	4661	1319	46	3		3	DYDC1	10	80352546	Missense_Mutation	SNP	G	C3N-00545_TP	8785730	80352546	53444876	200	15145											
LRIT1	0	.	GRCh38	chr10	84241318	84241318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgcacccggtaccatacCtggccttgctgccatcaccc	7	7	7	20	2	1	0	1	0	0	0	1	0	1	0	7	2	4	3	7	2	2	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.122G>T	p.Arg41Met	p.R41M	ENST00000372105	1/4	520	490	30	310	310	0	strelka-varscan-mutect	LRIT1,missense_variant,p.Arg41Met,ENST00000372105,NM_015613.2;RGR,upstream_gene_variant,,ENST00000359452,NM_002921.3,NM_001012720.1;RGR,upstream_gene_variant,,ENST00000358110,NM_001012722.1;RGR,upstream_gene_variant,,ENST00000372092,;RGR,upstream_gene_variant,,ENST00000478727,;RGR,upstream_gene_variant,,ENST00000483660,;RGR,upstream_gene_variant,,ENST00000469446,;RGR,upstream_gene_variant,,ENST00000483771,;	A	ENST00000372105	Transcript	missense_variant,splice_region_variant	144/2228	122/1872	41/623	R/M	aGg/aTg		1		-1	LRIT1	HGNC	HGNC:23404	protein_coding	YES	CCDS7373.1	ENSP00000361177	Q9P2V4		UPI000006F66C	NM_015613.2	deleterious(0)		1/4		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	84241318	84241318	C	A	1	0	0	0	0	1	0	0	0	8842	695	24	2		2	LRIT1	10	84241318	Missense_Mutation	SNP	C	C3N-00545_TP	3888772	84241318	49556104	201	15146											
LIPJ	0	.	GRCh38	chr10	88594144	88594144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagaattctgggctttcaGgtacaaataaaatgaagtaa	18	10	8	5	0	2	2	1	1	1	1	2	2	2	2	0	2	1	3	0	2	8	5	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.329G>A	p.Ser110Asn	p.S110N	ENST00000371939	5/11	134	120	14	56	55	1	strelka-varscan-mutect	LIPJ,missense_variant,p.Ser110Asn,ENST00000371939,NM_001010939.2;LIPJ,upstream_gene_variant,,ENST00000531458,;LIPJ,non_coding_transcript_exon_variant,,ENST00000526923,;	A	ENST00000371939	Transcript	missense_variant,splice_region_variant	643/1484	329/1101	110/366	S/N	aGt/aAt		1		1	LIPJ	HGNC	HGNC:21773	protein_coding	YES	CCDS31240.1	ENSP00000361007	Q5W064		UPI000013E51D	NM_001010939.2	deleterious(0.01)		5/11		hmmpanther:PTHR11005:SF11,hmmpanther:PTHR11005,PIRSF_domain:PIRSF000862,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	88594144	88594144	G	A	1	0	0	0	0	1	0	0	0	8747	1014	35	3		3	LIPJ	10	88594144	Missense_Mutation	SNP	G	C3N-00545_TP	4352826	88594144	45203278	202	15147											
R3HCC1L	0	.	GRCh38	chr10	98209627	98209627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttctttcagacagtgccGtgggcattgacctgggtagt	8	12	13	8	1	2	2	1	1	1	1	2	2	2	2	2	2	1	3	2	2	2	4	rs369504502		C3N-00545_TP	C3N-00545_NB	G	G																c.1513G>T	p.Val505Leu	p.V505L	ENST00000612478	3/9	346	327	19	109	109	0	strelka-varscan-mutect	R3HCC1L,missense_variant,p.Val505Leu,ENST00000298999,NM_014472.4;R3HCC1L,missense_variant,p.Val505Leu,ENST00000370584,NM_138469.2,NM_001256620.1;R3HCC1L,missense_variant,p.Val505Leu,ENST00000612478,NM_001256619.1;R3HCC1L,missense_variant,p.Val505Leu,ENST00000314594,;R3HCC1L,intron_variant,,ENST00000613938,;R3HCC1L,intron_variant,,ENST00000370586,NM_001256621.1;	T	ENST00000612478	Transcript	missense_variant	1735/3337	1513/2379	505/792	V/L	Gtg/Ttg	rs369504502	1		1	R3HCC1L	HGNC	HGNC:23512	protein_coding	YES	CCDS73178.1	ENSP00000483494		A0A087X0M0	UPI00001F94F3	NM_001256619.1	tolerated(1)		3/9		hmmpanther:PTHR21678,hmmpanther:PTHR21678:SF7																	MODERATE	1	SNV	5			1										PASS		rs369504502	.												T	3	4	48	98209627	98209627	G	T	1	0	0	0	0	1	0	0	0	13043	1145	40	1		1	R3HCC1L	10	98209627	Missense_Mutation	SNP	G	C3N-00545_TP	9615483	98209627	35587795	203	15148											
PNLIP	0	.	GRCh38	chr10	116555244	116555244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgattggaccccagcgatgCcaaatttgtggatgtaattc	10	11	10	10	2	0	0	0	0	0	0	1	4	0	2	4	2	2	1	4	2	2	4	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.638C>T	p.Ala213Val	p.A213V	ENST00000369221	7/13	345	309	36	227	227	0	strelka-varscan-mutect	PNLIP,missense_variant,p.Ala213Val,ENST00000369221,NM_000936.2;PNLIP,downstream_gene_variant,,ENST00000470562,;	T	ENST00000369221	Transcript	missense_variant	666/1483	638/1398	213/465	A/V	gCc/gTc		1		1	PNLIP	HGNC	HGNC:9155	protein_coding	YES	CCDS7594.1	ENSP00000358223	P16233		UPI000004F1A0	NM_000936.2	deleterious(0)		7/13		Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF85,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	116555244	116555244	C	T	1	0	0	0	0	1	0	0	0	12257	739	26	3		3	PNLIP	10	116555244	Missense_Mutation	SNP	C	C3N-00545_TP	18345617	116555244	17242178	204	15149											
GPR26	0	.	GRCh38	chr10	123666620	123666620	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccggcgtcgtggcgcagcgGcagccggcgggcgaccgcct	3	3	19	16	9	0	0	0	0	0	0	1	1	0	0	4	5	2	2	4	5	0	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.213G>T	p.=	p.R71R	ENST00000284674	1/3	241	220	21	145	145	0	strelka-varscan-mutect	GPR26,synonymous_variant,p.=,ENST00000284674,NM_153442.3;	T	ENST00000284674	Transcript	synonymous_variant	266/7514	213/1014	71/337	R	cgG/cgT		1		1	GPR26	HGNC	HGNC:4481	protein_coding	YES	CCDS7636.1	ENSP00000284674	Q8NDV2		UPI000006E821	NM_153442.3			1/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF6,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	123666620	123666620	G	T	1	0	0	0	0	0	0	0	1	6568	1190	42	2		2	GPR26	10	123666620	Silent	SNP	G	C3N-00545_TP	7111376	123666620	10130802	205	15150											
JAKMIP3	0	.	GRCh38	chr10	132150036	132150036	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatcctgggcgataacgccGtaagtgtatgtcgctctcct	8	11	10	12	4	1	0	0	0	1	0	4	1	2	0	3	1	1	3	3	1	3	3	rs200497584		C3N-00545_TP	C3N-00545_NB	G	G																c.2001+1G>T		p.X667_splice	ENST00000298622		452	402	50	196	196	0	strelka-varscan-mutect	JAKMIP3,splice_donor_variant,,ENST00000298622,NM_001105521.2;JAKMIP3,splice_donor_variant,,ENST00000477275,;	T	ENST00000298622	Transcript	splice_donor_variant	-/6626	2001/2535	667/844			rs200497584	1		1	JAKMIP3	HGNC	HGNC:23523	protein_coding	YES	CCDS44494.1	ENSP00000298622	Q5VZ66		UPI000157482F	NM_001105521.2				15/23																		HIGH	1	SNV	5			1										PASS		rs200497584	.												T	5	4	48	132150036	132150036	G	T	1	0	0	0	0	0	0	1	0	7855	1159	40	1		1	JAKMIP3	10	132150036	Splice_Site	SNP	G	C3N-00545_TP	8483416	132150036	1647386	206	15151											
LRRC4C	0	.	GRCh38	chr11	40114547	40114547	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggcatgggcaggtggctTtccatgggtgtgtctcccgt	4	11	16	10	1	1	0	0	0	1	0	3	0	2	0	2	5	0	4	2	5	0	1	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.1746A>T	p.Glu582Asp	p.E582D	ENST00000278198	2/2	624	558	66	313	313	0	strelka-varscan-mutect	LRRC4C,missense_variant,p.Glu582Asp,ENST00000278198,;LRRC4C,missense_variant,p.Glu582Asp,ENST00000527150,;LRRC4C,missense_variant,p.Glu582Asp,ENST00000530763,NM_020929.2;LRRC4C,missense_variant,p.Glu582Asp,ENST00000528697,NM_001258419.1;LRRC4C,missense_variant,p.Glu582Asp,ENST00000619527,;LRRC4C,downstream_gene_variant,,ENST00000533474,;RP11-454H19.2,upstream_gene_variant,,ENST00000624239,;	A	ENST00000278198	Transcript	missense_variant	3710/4054	1746/1923	582/640	E/D	gaA/gaT		1		-1	LRRC4C	HGNC	HGNC:29317	protein_coding	YES	CCDS31464.1	ENSP00000278198	Q9HCJ2		UPI000000D9A7		tolerated_low_confidence(0.47)		2/2		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	40114547	40114547	T	A	1	0	0	0	0	1	0	0	0	8903	1838	64	4		4	LRRC4C	11	40114547	Missense_Mutation	SNP	T	C3N-00545_TP		40114547	94972075	207	15152											
AMBRA1	0	.	GRCh38	chr11	46397780	46397780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcccgtctgagagctgcgGtgaatgcggtggctgacgat	6	9	17	9	4	1	3	0	3	1	1	1	5	1	3	1	3	4	2	1	3	1	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.3387C>A	p.His1129Gln	p.H1129Q	ENST00000534300	17/17	430	380	50	314	314	0	strelka-varscan-mutect	AMBRA1,missense_variant,p.His1189Gln,ENST00000458649,;AMBRA1,missense_variant,p.His1129Gln,ENST00000534300,NM_001300731.1;AMBRA1,missense_variant,p.His1099Gln,ENST00000314845,NM_017749.3,NM_001267782.1;AMBRA1,missense_variant,p.His1070Gln,ENST00000533727,NM_001267783.1;AMBRA1,missense_variant,p.His1160Gln,ENST00000528950,;AMBRA1,missense_variant,p.His147Gln,ENST00000526545,;	T	ENST00000534300	Transcript	missense_variant	3701/5067	3387/3717	1129/1238	H/Q	caC/caA		1		-1	AMBRA1	HGNC	HGNC:25990	protein_coding	YES	CCDS73281.1	ENSP00000431926	Q9C0C7		UPI00005A6107	NM_001300731.1	deleterious_low_confidence(0)		17/17		hmmpanther:PTHR22874,hmmpanther:PTHR22874:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	46397780	46397780	G	T	1	0	0	0	0	1	0	0	0	661	1252	44	2		2	AMBRA1	11	46397780	Missense_Mutation	SNP	G	C3N-00545_TP	6283233	46397780	88688842	208	15153											
OR4A15	0	.	GRCh38	chr11	55368140	55368140	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccagtccctgggttcccCcatgtacttttttctggctt	4	15	8	14	0	1	0	0	0	1	0	3	0	3	0	4	2	2	3	4	2	1	6	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.257C>G	p.Pro86Arg	p.P86R	ENST00000314706	1/1	345	304	41	92	92	0	strelka-varscan-mutect	OR4A15,missense_variant,p.Pro86Arg,ENST00000314706,NM_001005275.1;	G	ENST00000314706	Transcript	missense_variant	257/1035	257/1035	86/344	P/R	cCc/cGc		1		1	OR4A15	HGNC	HGNC:15152	protein_coding	YES	CCDS31500.1	ENSP00000325065	Q8NGL6		UPI000004618F	NM_001005275.1	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	48	55368140	55368140	C	G	1	0	0	0	0	1	0	0	0	11117	623	22	4		4	OR4A15	11	55368140	Missense_Mutation	SNP	C	C3N-00545_TP	8970360	55368140	79718482	209	15154											
MS4A2	0	.	GRCh38	chr11	60089741	60089741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccccaggaagtatcttcaGgcagactattgaagtcggcc	10	9	10	12	1	2	2	1	1	1	1	4	3	3	3	3	3	0	2	3	3	4	4	rs750693474		C3N-00545_TP	C3N-00545_NB	G	G																c.106G>T	p.Gly36Cys	p.G36C	ENST00000278888	2/7	614	580	34	288	288	0	strelka-varscan	MS4A2,missense_variant,p.Gly36Cys,ENST00000617306,NM_001256916.1;MS4A2,missense_variant,p.Gly36Cys,ENST00000278888,NM_000139.4;MS4A2,missense_variant,p.Gly36Cys,ENST00000524868,;MS4A2,non_coding_transcript_exon_variant,,ENST00000440896,;	T	ENST00000278888	Transcript	missense_variant	208/1152	106/735	36/244	G/C	Ggc/Tgc	rs750693474,COSM544055	1		1	MS4A2	HGNC	HGNC:7316	protein_coding	YES	CCDS7980.1	ENSP00000278888	Q01362		UPI0000038E6F	NM_000139.4	tolerated(0.05)		2/7		hmmpanther:PTHR23320:SF66,hmmpanther:PTHR23320											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	48	60089741	60089741	G	T	1	0	0	0	0	1	0	0	0	9838	1000	35	2		2	MS4A2	11	60089741	Missense_Mutation	SNP	G	C3N-00545_TP	4721601	60089741	74996881	210	15155											
MYRF	0	.	GRCh38	chr11	61771615	61771615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgggaccgtgacagccctgCctctgcaccccactcgagcc	6	6	10	19	2	1	1	0	1	1	0	2	3	1	2	6	1	4	1	6	1	0	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.856C>A	p.Pro286Thr	p.P286T	ENST00000278836	6/27	576	526	50	270	270	0	strelka-varscan-mutect	MYRF,missense_variant,p.Pro286Thr,ENST00000278836,NM_001127392.2;MYRF,missense_variant,p.Pro277Thr,ENST00000265460,NM_013279.3;TMEM258,intron_variant,,ENST00000535042,;MYRF,downstream_gene_variant,,ENST00000537766,;	A	ENST00000278836	Transcript	missense_variant	952/5927	856/3456	286/1151	P/T	Cct/Act		1		1	MYRF	HGNC	HGNC:1181	protein_coding	YES	CCDS44622.1	ENSP00000278836	Q9Y2G1		UPI0000D45F7B	NM_001127392.2	tolerated(0.12)		6/27		PROSITE_profiles:PS51517,hmmpanther:PTHR13029,hmmpanther:PTHR13029:SF16																	MODERATE	1	SNV	1			1										PASS		rs972195289	.												A	3	1	48	61771615	61771615	C	A	1	0	0	0	0	1	0	0	0	10101	739	26	2		2	MYRF	11	61771615	Missense_Mutation	SNP	C	C3N-00545_TP	1681874	61771615	73315007	211	15156											
NRXN2	0	.	GRCh38	chr11	64622774	64622774	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggtgctgtccctcagTgtgggggagcggccccggcg	2	8	20	11	3	1	0	1	0	0	0	2	1	2	1	3	6	2	1	3	6	0	0	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.4152A>T	p.=	p.T1384T	ENST00000265459	21/23	164	154	10	137	137	0	strelka-varscan-mutect	NRXN2,synonymous_variant,p.=,ENST00000265459,NM_015080.3;NRXN2,synonymous_variant,p.=,ENST00000377559,NM_138732.2;NRXN2,synonymous_variant,p.=,ENST00000409571,;NRXN2,synonymous_variant,p.=,ENST00000377551,;NRXN2,synonymous_variant,p.=,ENST00000301894,NM_138734.2;NRXN2,synonymous_variant,p.=,ENST00000423049,;NRXN2,non_coding_transcript_exon_variant,,ENST00000475737,;NRXN2,non_coding_transcript_exon_variant,,ENST00000464307,;	A	ENST00000265459	Transcript	synonymous_variant	4614/6621	4152/5139	1384/1712	T	acA/acT		1		-1	NRXN2	HGNC	HGNC:8009	protein_coding	YES	CCDS8077.1	ENSP00000265459	Q9P2S2		UPI0000130AA2	NM_015080.3			21/23		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF593																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	48	64622774	64622774	T	A	1	0	0	0	0	0	0	0	1	10725	1683	59	4		4	NRXN2	11	64622774	Silent	SNP	T	C3N-00545_TP	2851159	64622774	70463848	212	15157											
NRXN2	0	.	GRCh38	chr11	64660878	64660878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgcttcagcgtctcccggGagcaaaagggggcaacgccc	9	5	13	14	3	2	0	1	0	1	0	3	1	2	1	2	3	4	3	2	3	3	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.2060C>A	p.Ser687Tyr	p.S687Y	ENST00000265459	10/23	190	180	10	133	133	0	strelka-varscan-mutect	NRXN2,missense_variant,p.Ser687Tyr,ENST00000265459,NM_015080.3;NRXN2,missense_variant,p.Ser656Tyr,ENST00000377559,NM_138732.2;NRXN2,missense_variant,p.Ser680Tyr,ENST00000409571,;NRXN2,missense_variant,p.Ser687Tyr,ENST00000377551,;AP001092.4,downstream_gene_variant,,ENST00000433606,;NRXN2,non_coding_transcript_exon_variant,,ENST00000496291,;NRXN2,upstream_gene_variant,,ENST00000486057,;	T	ENST00000265459	Transcript	missense_variant	2522/6621	2060/5139	687/1712	S/Y	tCc/tAc		1		-1	NRXN2	HGNC	HGNC:8009	protein_coding	YES	CCDS8077.1	ENSP00000265459	Q9P2S2		UPI0000130AA2	NM_015080.3	deleterious(0.01)		10/23		Gene3D:2.60.120.200,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF593																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	48	64660878	64660878	G	T	1	0	0	0	0	1	0	0	0	10725	1174	41	2		2	NRXN2	11	64660878	Missense_Mutation	SNP	G	C3N-00545_TP	38104	64660878	70425744	213	15158											
MYO7A	0	.	GRCh38	chr11	77182582	77182582	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacaagagggagctgcaggcCctgcagggcgagggcgaggt	9	4	19	9	2	0	1	0	0	0	1	0	4	0	2	1	5	4	3	1	5	2	1	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.3267C>A	p.=	p.A1089A	ENST00000409709	25/49	315	295	20	166	166	0	strelka-varscan-mutect	MYO7A,synonymous_variant,p.=,ENST00000409709,NM_000260.3;MYO7A,synonymous_variant,p.=,ENST00000458637,NM_001127180.1;MYO7A,synonymous_variant,p.=,ENST00000409619,;MYO7A,synonymous_variant,p.=,ENST00000458169,;MYO7A,synonymous_variant,p.=,ENST00000409893,NM_001127179.2;MYO7A,synonymous_variant,p.=,ENST00000620575,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;MYO7A,upstream_gene_variant,,ENST00000467137,;	A	ENST00000409709	Transcript	synonymous_variant	3539/7462	3267/6648	1089/2215	A	gcC/gcA		1		1	MYO7A	HGNC	HGNC:7606	protein_coding	YES	CCDS53683.1	ENSP00000386331	Q13402		UPI00001FAFE6	NM_000260.3			25/49		PROSITE_profiles:PS51016,hmmpanther:PTHR13140:SF369,hmmpanther:PTHR13140,SMART_domains:SM00139																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	48	77182582	77182582	C	A	1	0	0	0	0	0	0	0	1	10083	610	22	2		2	MYO7A	11	77182582	Silent	SNP	C	C3N-00545_TP	12521704	77182582	57904040	214	15159											
FAT3	0	.	GRCh38	chr11	92883125	92883125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacggccgcaacgtctaccaGgaggtggggcccccgcaggt	7	4	16	14	4	1	0	0	0	1	0	1	2	1	1	4	6	2	2	4	6	2	1			C3N-00545_TP	C3N-00545_NB	G	G																c.12219G>T	p.Gln4073His	p.Q4073H	ENST00000525166	23/27	614	553	61	425	425	0	strelka-varscan-mutect	FAT3,missense_variant,p.Gln4223His,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Gln4073His,ENST00000525166,;FAT3,missense_variant,p.Gln558His,ENST00000533797,;FAT3,upstream_gene_variant,,ENST00000489716,;FAT3,upstream_gene_variant,,ENST00000469900,;	T	ENST00000525166	Transcript	missense_variant	12241/18699	12219/13320	4073/4439	Q/H	caG/caT	COSM3454630,COSM3454631,COSM3454632	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		deleterious(0.01)		23/27		hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												T	3	4	48	92883125	92883125	G	T	1	0	0	0	0	1	0	0	0	5551	991	35	2		2	FAT3	11	92883125	Missense_Mutation	SNP	G	C3N-00545_TP	15700543	92883125	42203497	215	15160											
ROBO4	0	.	GRCh38	chr11	124887076	124887076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagggatgacagtgaggagCtggacaggcgactggaagct	11	5	17	8	1	0	2	0	2	0	0	0	7	0	6	1	5	2	2	1	5	1	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.2336G>T	p.Ser779Ile	p.S779I	ENST00000306534	15/18	264	248	16	128	128	0	strelka-varscan-mutect	ROBO4,missense_variant,p.Ser779Ile,ENST00000306534,NM_019055.5;ROBO4,missense_variant,p.Ser634Ile,ENST00000533054,NM_001301088.1;RP11-664I21.5,intron_variant,,ENST00000524453,;RP11-664I21.6,upstream_gene_variant,,ENST00000524433,;ROBO4,non_coding_transcript_exon_variant,,ENST00000534407,;ROBO4,non_coding_transcript_exon_variant,,ENST00000532216,;ROBO4,downstream_gene_variant,,ENST00000525182,;	A	ENST00000306534	Transcript	missense_variant	2822/4710	2336/3024	779/1007	S/I	aGc/aTc		1		-1	ROBO4	HGNC	HGNC:17985	protein_coding	YES	CCDS8455.1	ENSP00000304945	Q8WZ75		UPI000004A023	NM_019055.5	deleterious(0)		15/18		Low_complexity_(Seg):seg,hmmpanther:PTHR10489																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	124887076	124887076	C	A	1	0	0	0	0	1	0	0	0	13694	797	28	2		2	ROBO4	11	124887076	Missense_Mutation	SNP	C	C3N-00545_TP	32003951	124887076	10199546	216	15161											
SLC6A12	0	.	GRCh38	chr12	196876	196876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaggcgatgaaggccagcCcaggacctgccaggtacaca	12	3	14	12	1	0	1	0	1	0	0	0	4	0	3	4	5	3	1	4	5	3	1	rs753369628		C3N-00545_TP	C3N-00545_NB	C	C																c.1082G>T	p.Gly361Val	p.G361V	ENST00000424061	12/17	238	201	37	112	112	0	strelka-varscan-mutect	SLC6A12,missense_variant,p.Gly361Val,ENST00000424061,NM_003044.4;SLC6A12,missense_variant,p.Gly361Val,ENST00000397296,;SLC6A12,missense_variant,p.Gly361Val,ENST00000359674,NM_001122847.2,NM_001122848.2;SLC6A12,missense_variant,p.Gly361Val,ENST00000536824,NM_001206931.1;RP11-283I3.1,downstream_gene_variant,,ENST00000544067,;SLC6A12,non_coding_transcript_exon_variant,,ENST00000535498,;SLC6A12,downstream_gene_variant,,ENST00000538272,;SLC6A12,non_coding_transcript_exon_variant,,ENST00000542825,;SLC6A12,non_coding_transcript_exon_variant,,ENST00000544782,;SLC6A12,intron_variant,,ENST00000545058,;SLC6A12,downstream_gene_variant,,ENST00000538580,;SLC6A12,downstream_gene_variant,,ENST00000540094,;	A	ENST00000424061	Transcript	missense_variant	1637/3332	1082/1845	361/614	G/V	gGg/gTg	rs753369628	1		-1	SLC6A12	HGNC	HGNC:11045	protein_coding	YES	CCDS8501.1	ENSP00000399136	P48065		UPI000013C8DB	NM_003044.4	deleterious(0)		12/17		Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF118																	MODERATE	1	SNV	1			1										PASS		rs753369628	.												A	3	1	48	196876	196876	C	A	1	0	0	0	0	1	0	0	0	14958	623	22	2		2	SLC6A12	12	196876	Missense_Mutation	SNP	C	C3N-00545_TP		196876	133078433	217	15162											
FGF23	0	.	GRCh38	chr12	4370490	4370490	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctgtgaacaggaggcCggggccggggtcatccgggc	6	5	18	12	3	1	1	1	1	0	0	3	2	3	2	4	7	2	1	4	7	1	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.609G>T	p.=	p.P203P	ENST00000237837	3/3	211	184	27	233	233	0	strelka-varscan-mutect	FGF23,synonymous_variant,p.=,ENST00000237837,NM_020638.2;	A	ENST00000237837	Transcript	synonymous_variant	755/3018	609/756	203/251	P	ccG/ccT		1		-1	FGF23	HGNC	HGNC:3680	protein_coding	YES	CCDS8526.1	ENSP00000237837	Q9GZV9		UPI000003ED58	NM_020638.2			3/3		hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF69																	LOW	1	SNV	1			1										PASS		rs1429413031	.												A	2	1	48	4370490	4370490	C	A	1	0	0	0	0	0	0	0	1	5716	639	23	1		1	FGF23	12	4370490	Silent	SNP	C	C3N-00545_TP	4173614	4370490	128904819	218	15163											
GALNT8	0	.	GRCh38	chr12	4761020	4761020	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggattgcccacctagagagAcaccacaagccctacgcctt	11	6	8	16	2	0	2	0	0	0	2	0	4	0	3	5	1	3	0	5	1	3	4	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.1236A>T	p.Arg412Ser	p.R412S	ENST00000252318	7/11	463	403	60	352	352	0	strelka-varscan-mutect	GALNT8,missense_variant,p.Arg412Ser,ENST00000252318,NM_017417.1;GALNT8,upstream_gene_variant,,ENST00000542998,;GALNT8,upstream_gene_variant,,ENST00000535354,;	T	ENST00000252318	Transcript	missense_variant	1573/2380	1236/1914	412/637	R/S	agA/agT		1		1	GALNT8	HGNC	HGNC:4130	protein_coding	YES	CCDS8533.1	ENSP00000252318	Q9NY28		UPI0000070DEC	NM_017417.1	deleterious(0)		7/11		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF50,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	4761020	4761020	A	T	1	0	0	0	0	1	0	0	0	6090	272	10	4		4	GALNT8	12	4761020	Missense_Mutation	SNP	A	C3N-00545_TP	390530	4761020	128514289	219	15164											
KCNA5	0	.	GRCh38	chr12	5045875	5045875	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggagaatgcagacagtgcCcgaaggggcagctgccccct	9	5	14	13	1	0	2	0	0	0	2	0	4	0	2	3	3	4	3	3	3	2	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.1728C>G	p.=	p.A576A	ENST00000252321	1/1	461	420	41	361	361	0	strelka-varscan-mutect	KCNA5,synonymous_variant,p.=,ENST00000252321,NM_002234.3;	G	ENST00000252321	Transcript	synonymous_variant	1887/2800	1728/1842	576/613	A	gcC/gcG		1		1	KCNA5	HGNC	HGNC:6224	protein_coding	YES	CCDS8536.1	ENSP00000252321	P22460		UPI000013CD56	NM_002234.3			1/1		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25																	LOW	1	SNV				1										PASS		.	.												G	2	3	48	5045875	5045875	C	G	1	0	0	0	0	0	0	0	1	7922	610	22	4		4	KCNA5	12	5045875	Silent	SNP	C	C3N-00545_TP	284855	5045875	128229434	220	15165											
NANOG	0	.	GRCh38	chr12	7789634	7789634	+	Frame_Shift_Del	DEL	G	G	-																															catgagtgtggatccagcttGtccccaaagcttgccttgct																								novel		C3N-00545_TP	C3N-00545_NB	G	G																c.20delG	p.Cys7PhefsTer21	p.C7Ffs*21	ENST00000229307	1/4	400	363	37	163	163	0	varindel-pindel	NANOG,frameshift_variant,p.Cys7PhefsTer21,ENST00000229307,NM_024865.3;NANOG,frameshift_variant,p.Cys7PhefsTer21,ENST00000526286,NM_001297698.1;NANOG,5_prime_UTR_variant,,ENST00000541267,;NANOG,non_coding_transcript_exon_variant,,ENST00000526434,;	-	ENST00000229307	Transcript	frameshift_variant	239/5183	20/918	7/305	C/X	tGt/tt		1		1	NANOG	HGNC	HGNC:20857	protein_coding	YES	CCDS31736.1	ENSP00000229307	Q9H9S0		UPI000013C8F5	NM_024865.3			1/4		hmmpanther:PTHR24327:SF32,hmmpanther:PTHR24327																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	48	7789634	7789634	G	-	1	0	1	0	1	0	0	0	0	10157	1377	48	0		0	NANOG	12	7789634	Frame_Shift_Del	DEL	G	C3N-00545_TP	2743759	7789634	125485675	221	15166											
GRIN2B	0	.	GRCh38	chr12	13563835	13563835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctttgttcggaactggtCcaggtagaagtcccgtagcc	7	11	11	12	2	0	1	0	0	0	1	4	2	3	2	4	3	2	3	4	3	4	4			C3N-00545_TP	C3N-00545_NB	C	C																c.3403G>T	p.Asp1135Tyr	p.D1135Y	ENST00000609686	13/13	437	368	69	320	320	0	strelka-varscan-mutect	GRIN2B,missense_variant,p.Asp1135Tyr,ENST00000609686,NM_000834.3;GRIN2B,intron_variant,,ENST00000637214,;GRIN2B,non_coding_transcript_exon_variant,,ENST00000628166,;GRIN2B,upstream_gene_variant,,ENST00000636207,;	A	ENST00000609686	Transcript	missense_variant	3857/30355	3403/4455	1135/1484	D/Y	Gac/Tac	COSM3458469	1		-1	GRIN2B	HGNC	HGNC:4586	protein_coding	YES	CCDS8662.1	ENSP00000477455	Q13224		UPI000013026C	NM_000834.3	deleterious(0.02)		13/13		Pfam_domain:PF10565											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	48	13563835	13563835	C	A	1	0	0	0	0	1	0	0	0	6662	855	30	2		2	GRIN2B	12	13563835	Missense_Mutation	SNP	C	C3N-00545_TP	5774201	13563835	119711474	222	15167											
PLEKHA5	0	.	GRCh38	chr12	19348409	19348409	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctttcaagggtccagattAtagactctacaagagtgaac	13	11	8	9	0	2	4	1	1	1	3	4	4	4	4	2	1	2	0	2	1	6	4	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.2909A>T	p.Tyr970Phe	p.Y970F	ENST00000429027	25/32	201	175	26	23	23	0	strelka-mutect	PLEKHA5,missense_variant,p.Tyr862Phe,ENST00000538714,NM_001143821.2;PLEKHA5,missense_variant,p.Tyr970Phe,ENST00000429027,NM_001256470.1;PLEKHA5,missense_variant,p.Tyr786Phe,ENST00000424268,NM_001256787.1;PLEKHA5,missense_variant,p.Tyr804Phe,ENST00000299275,NM_019012.5;PLEKHA5,missense_variant,p.Tyr562Phe,ENST00000539256,;PLEKHA5,missense_variant,p.Tyr759Phe,ENST00000536974,;PLEKHA5,intron_variant,,ENST00000538972,;PLEKHA5,downstream_gene_variant,,ENST00000538068,;	T	ENST00000429027	Transcript	missense_variant	2941/4762	2909/3849	970/1282	Y/F	tAt/tTt		1		1	PLEKHA5	HGNC	HGNC:30036	protein_coding	YES	CCDS58213.1	ENSP00000404296	Q9HAU0		UPI000204ABA8	NM_001256470.1	deleterious(0.03)		25/32		hmmpanther:PTHR12752,hmmpanther:PTHR12752:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	19348409	19348409	A	T	1	0	0	0	0	1	0	0	0	12152	449	16	4		4	PLEKHA5	12	19348409	Missense_Mutation	SNP	A	C3N-00545_TP	5784574	19348409	113926900	223	15168											
KRAS	0	.	GRCh38	chr12	25245350	25245350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		C3N-00545_TP	C3N-00545_NB	C	C																c.35G>A	p.Gly12Asp	p.G12D	ENST00000256078	2/6	420	365	55	187	187	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Asp,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Asp,ENST00000556131,;KRAS,missense_variant,p.Gly12Asp,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Asp,ENST00000557334,;	T	ENST00000256078	Transcript	missense_variant	99/1119	35/570	12/189	G/D	gGt/gAt	rs121913529,CM087372,COSM1135366,COSM1140133,COSM1140134,COSM12657,COSM49168,COSM520,COSM521,COSM522	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,0,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1,1,1	1										PASS		rs121913529	.												T	3	4	48	25245350	25245350	C	T	1	0	0	0	0	1	0	0	0	8318	507	18	3		3	KRAS	12	25245350	Missense_Mutation	SNP	C	C3N-00545_TP	5896941	25245350	108029959	224	15169											
TMTC1	0	.	GRCh38	chr12	29633174	29633174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctaagcagtgcaggctCaataaggccatcacaaccgc	12	6	10	13	1	2	0	2	0	0	0	2	0	2	0	2	2	4	5	2	2	4	2	rs765249260		C3N-00545_TP	C3N-00545_NB	C	C																c.1101G>T	p.Leu367Phe	p.L367F	ENST00000539277	6/18	176	142	34	119	119	0	strelka-varscan-mutect	TMTC1,missense_variant,p.Leu259Phe,ENST00000256062,NM_175861.3;TMTC1,missense_variant,p.Leu429Phe,ENST00000551659,;TMTC1,missense_variant,p.Leu429Phe,ENST00000552618,;TMTC1,missense_variant,p.Leu367Phe,ENST00000539277,NM_001193451.1;TMTC1,non_coding_transcript_exon_variant,,ENST00000319685,;TMTC1,non_coding_transcript_exon_variant,,ENST00000553189,;	A	ENST00000539277	Transcript	missense_variant	1160/2758	1101/2649	367/882	L/F	ttG/ttT	rs765249260	1		-1	TMTC1	HGNC	HGNC:24099	protein_coding	YES	CCDS53772.1	ENSP00000442046	Q8IUR5		UPI0001DD37FA	NM_001193451.1	deleterious(0.01)		6/18		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF401,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs765249260	.												A	3	1	48	29633174	29633174	C	A	1	0	0	0	0	1	0	0	0	16734	825	29	2		2	TMTC1	12	29633174	Missense_Mutation	SNP	C	C3N-00545_TP	4387824	29633174	103642135	225	15170											
OVOS2	0	.	GRCh38	chr12	31126465	31126465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccattagtgacaccactGtccaatgccgcttcaaggca	11	9	8	13	1	1	1	1	1	0	0	2	1	2	1	4	1	2	2	4	1	4	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.3354C>A	p.Asp1118Glu	p.D1118E	ENST00000632817	26/34	268	229	39	78	77	1	strelka-varscan-mutect	OVOS2,missense_variant,p.Asp1118Glu,ENST00000398963,;OVOS2,missense_variant,p.Asp1118Glu,ENST00000632817,;	T	ENST00000632817	Transcript	missense_variant	3354/4299	3354/4299	1118/1432	D/E	gaC/gaA		1		-1	OVOS2	Clone_based_vega_gene		protein_coding	YES		ENSP00000487815		A0A0J9YW53	UPI0001AE6AF7		tolerated(1)		26/34		hmmpanther:PTHR11412:SF77,hmmpanther:PTHR11412,Gene3D:1.50.10.20,Pfam_domain:PF07678,Superfamily_domains:SSF48239																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	48	31126465	31126465	G	T	1	0	0	0	0	1	0	0	0	11399	1368	48	2		2	OVOS2	12	31126465	Missense_Mutation	SNP	G	C3N-00545_TP	1493291	31126465	102148844	226	15171											
OVOS2	0	.	GRCh38	chr12	31138230	31138230	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacatacttctggttttcgGtaatggagattggtaaagac	12	13	10	6	1	1	2	0	0	1	2	2	3	1	2	0	4	1	3	0	4	4	7	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1998C>T	p.=	p.Y666Y	ENST00000632817	15/34	259	238	21	68	68	0	varscan-mutect	OVOS2,synonymous_variant,p.=,ENST00000398963,;OVOS2,synonymous_variant,p.=,ENST00000632817,;	A	ENST00000632817	Transcript	synonymous_variant	1998/4299	1998/4299	666/1432	Y	taC/taT		1		-1	OVOS2	Clone_based_vega_gene		protein_coding	YES		ENSP00000487815		A0A0J9YW53	UPI0001AE6AF7				15/34		hmmpanther:PTHR11412:SF77,hmmpanther:PTHR11412																	LOW	1	SNV	5			1										PASS		rs1365768270	.												A	2	1	48	31138230	31138230	G	A	1	0	0	0	0	0	0	0	1	11399	1256	44	3		3	OVOS2	12	31138230	Silent	SNP	G	C3N-00545_TP	11765	31138230	102137079	227	15172											
PKP2	0	.	GRCh38	chr12	32868981	32868981	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtatgaaagtagctgcAgcagaaatcctggatggcag	12	9	13	7	0	0	2	0	1	0	1	1	3	1	3	1	2	4	7	1	2	4	2	rs142742483		C3N-00545_TP	C3N-00545_NB	A	A																c.1116T>A	p.=	p.A372A	ENST00000070846	4/14	642	547	95	455	455	0	strelka-varscan-mutect	PKP2,synonymous_variant,p.=,ENST00000340811,NM_001005242.2;PKP2,synonymous_variant,p.=,ENST00000070846,NM_004572.3;	T	ENST00000070846	Transcript	synonymous_variant	1141/4241	1116/2646	372/881	A	gcT/gcA	rs142742483	1		-1	PKP2	HGNC	HGNC:9024	protein_coding	YES	CCDS8731.1	ENSP00000070846	Q99959		UPI000013C576	NM_004572.3			4/14		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF25,Superfamily_domains:SSF48371										benign							LOW	1	SNV	1		1	1										PASS		rs142742483	.												T	2	4	48	32868981	32868981	A	T	1	0	0	0	0	0	0	0	1	12081	175	7	4		4	PKP2	12	32868981	Silent	SNP	A	C3N-00545_TP	1730751	32868981	100406328	228	15173											
NELL2	0	.	GRCh38	chr12	44703796	44703796	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaacagccctgtcattCagatttctgcagatggaatt	12	12	7	10	0	3	2	2	0	1	2	3	3	3	3	1	1	4	1	1	1	3	4	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.1398G>T	p.=	p.L466L	ENST00000437801	13/21	480	454	26	127	127	0	strelka-varscan-mutect	NELL2,synonymous_variant,p.=,ENST00000429094,NM_001145108.1;NELL2,synonymous_variant,p.=,ENST00000437801,NM_001145107.1;NELL2,synonymous_variant,p.=,ENST00000395487,NM_001145109.1;NELL2,synonymous_variant,p.=,ENST00000452445,NM_006159.2;NELL2,synonymous_variant,p.=,ENST00000551601,;NELL2,synonymous_variant,p.=,ENST00000549027,;NELL2,synonymous_variant,p.=,ENST00000333837,NM_001145110.1;NELL2,synonymous_variant,p.=,ENST00000550313,;NELL2,non_coding_transcript_exon_variant,,ENST00000547751,;NELL2,upstream_gene_variant,,ENST00000549668,;	A	ENST00000437801	Transcript	synonymous_variant	1770/3279	1398/2601	466/866	L	ctG/ctT		1		-1	NELL2	HGNC	HGNC:7751	protein_coding	YES	CCDS44863.1	ENSP00000416341	Q99435		UPI000191537D	NM_001145107.1			13/21		PROSITE_profiles:PS50026,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF0,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	48	44703796	44703796	C	A	1	0	0	0	0	0	0	0	1	10365	813	29	2		2	NELL2	12	44703796	Silent	SNP	C	C3N-00545_TP	11834815	44703796	88571513	229	15174											
ERBB3	0	.	GRCh38	chr12	56080353	56080353	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttttcagcctggcccGgggctccgaggtgggcaact	4	10	14	13	2	1	0	1	0	0	0	2	1	2	0	3	5	3	3	3	5	1	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.53G>T	p.Arg18Leu	p.R18L	ENST00000267101	1/28	440	385	55	244	244	0	strelka-varscan-mutect	ERBB3,missense_variant,p.Arg18Leu,ENST00000267101,NM_001982.3;ERBB3,missense_variant,p.Arg18Leu,ENST00000411731,NM_001005915.1;ERBB3,missense_variant,p.Arg18Leu,ENST00000549282,;ERBB3,5_prime_UTR_variant,,ENST00000549061,;ERBB3,upstream_gene_variant,,ENST00000415288,;ERBB3,upstream_gene_variant,,ENST00000549672,;ERBB3,missense_variant,p.Arg18Leu,ENST00000551085,;ERBB3,missense_variant,p.Arg18Leu,ENST00000551242,;ERBB3,non_coding_transcript_exon_variant,,ENST00000546884,;ERBB3,intron_variant,,ENST00000550869,;	T	ENST00000267101	Transcript	missense_variant	493/5919	53/4029	18/1342	R/L	cGg/cTg		1		1	ERBB3	HGNC	HGNC:3431	protein_coding	YES	CCDS31833.1	ENSP00000267101	P21860		UPI000012A113	NM_001982.3	tolerated(0.71)		1/28		PIRSF_domain:PIRSF000619,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF88,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs1317504479	.												T	3	4	48	56080353	56080353	G	T	1	0	0	0	0	1	0	0	0	5056	1116	39	1		1	ERBB3	12	56080353	Missense_Mutation	SNP	G	C3N-00545_TP	11376557	56080353	77194956	230	15175											
SMARCC2	0	.	GRCh38	chr12	56171882	56171882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgcactcgtcctgtgtgCggcttcccacatgctcggac	6	10	11	14	3	0	1	0	0	0	1	4	2	2	2	2	2	3	3	2	2	0	1			C3N-00545_TP	C3N-00545_NB	C	C																c.1889G>T	p.Arg630Leu	p.R630L	ENST00000267064	20/28	203	178	25	138	138	0	strelka-varscan-mutect	SMARCC2,missense_variant,p.Arg661Leu,ENST00000394023,NM_001130420.1;SMARCC2,missense_variant,p.Arg661Leu,ENST00000550164,;SMARCC2,missense_variant,p.Arg630Leu,ENST00000267064,NM_003075.3;SMARCC2,missense_variant,p.Arg661Leu,ENST00000347471,NM_139067.2;RP11-977G19.5,intron_variant,,ENST00000553176,;SMARCC2,intron_variant,,ENST00000549209,;SMARCC2,3_prime_UTR_variant,,ENST00000552674,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000548130,;SMARCC2,downstream_gene_variant,,ENST00000552931,;SMARCC2,downstream_gene_variant,,ENST00000552566,;	A	ENST00000267064	Transcript	missense_variant	1976/4076	1889/3645	630/1214	R/L	cGc/cTc	COSM4755860,COSM4755861,COSM4755862,COSM4860878,COSM694497,COSM694498	1		-1	SMARCC2	HGNC	HGNC:11105	protein_coding	YES	CCDS8907.1	ENSP00000267064	Q8TAQ2	A0A024RB22	UPI0000071C4E	NM_003075.3	deleterious(0)		20/28		Gene3D:1.10.10.60,Pfam_domain:PF00249,PROSITE_profiles:PS51293,hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF38,SMART_domains:SM00717,Superfamily_domains:SSF46689											1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1	1										PASS		.	.												A	3	1	48	56171882	56171882	C	A	1	0	0	0	0	1	0	0	0	15069	768	27	1		1	SMARCC2	12	56171882	Missense_Mutation	SNP	C	C3N-00545_TP	91529	56171882	77103427	231	15176											
TMEM19	0	.	GRCh38	chr12	71698962	71698962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccttggtggtacctttgtgGgcattgcatacttcctcaca	6	15	9	11	0	1	0	1	0	0	0	3	0	3	0	3	3	3	3	3	3	2	6	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.700G>T	p.Gly234Cys	p.G234C	ENST00000266673	5/6	491	453	38	235	235	0	strelka-varscan-mutect	TMEM19,missense_variant,p.Gly234Cys,ENST00000266673,NM_018279.3;TMEM19,missense_variant,p.Gly234Cys,ENST00000549735,;TMEM19,missense_variant,p.Gly133Cys,ENST00000546677,;TMEM19,missense_variant,p.Gly50Cys,ENST00000550787,;TMEM19,missense_variant,p.Gly78Cys,ENST00000546795,;TMEM19,downstream_gene_variant,,ENST00000550524,;RP11-293I14.2,3_prime_UTR_variant,,ENST00000548802,;	T	ENST00000266673	Transcript	missense_variant	1294/5656	700/1011	234/336	G/C	Ggc/Tgc		1		1	TMEM19	HGNC	HGNC:25605	protein_coding	YES	CCDS9002.1	ENSP00000266673	Q96HH6	A0A024RBA1	UPI000006EFAF	NM_018279.3	deleterious(0.03)		5/6		Pfam_domain:PF01940,hmmpanther:PTHR13353,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	71698962	71698962	G	T	1	0	0	0	0	1	0	0	0	16555	1232	43	2		2	TMEM19	12	71698962	Missense_Mutation	SNP	G	C3N-00545_TP	15527080	71698962	61576347	232	15177											
E2F7	0	.	GRCh38	chr12	77029901	77029901	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagtggctggctcatccTcctcctgaggtttcctctcc	3	16	8	14	0	2	1	1	1	1	0	7	1	6	1	5	3	0	3	5	3	1	3	rs759394987		C3N-00545_TP	C3N-00545_NB	T	T																c.1814A>G	p.Glu605Gly	p.E605G	ENST00000322886	10/13	573	530	43	356	356	0	strelka-varscan-mutect	E2F7,missense_variant,p.Glu605Gly,ENST00000322886,NM_203394.2;E2F7,missense_variant,p.Glu605Gly,ENST00000416496,;E2F7,missense_variant,p.Glu605Gly,ENST00000550669,;E2F7,downstream_gene_variant,,ENST00000552907,;	C	ENST00000322886	Transcript	missense_variant	2050/5740	1814/2736	605/911	E/G	gAg/gGg	rs759394987	1		-1	E2F7	HGNC	HGNC:23820	protein_coding	YES	CCDS9016.1	ENSP00000323246	Q96AV8		UPI00001B64A1	NM_203394.2	deleterious(0.01)		10/13																			MODERATE	1	SNV	1			1										PASS		rs759394987	.												C	3	2	48	77029901	77029901	T	C	1	0	0	0	0	1	0	0	0	4696	1551	54	5		5	E2F7	12	77029901	Missense_Mutation	SNP	T	C3N-00545_TP	5330939	77029901	56245408	233	15178											
VEZT	0	.	GRCh38	chr12	95300560	95300560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttcactgctggccttgctGcagaagtggctgctagatct	6	12	11	12	0	2	2	1	0	1	2	2	2	2	2	2	2	4	5	2	2	2	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.2227G>T	p.Ala743Ser	p.A743S	ENST00000436874	12/12	311	278	33	212	212	0	strelka-varscan-mutect	VEZT,missense_variant,p.Ala743Ser,ENST00000436874,NM_017599.3;VEZT,missense_variant,p.Ala699Ser,ENST00000397792,;VEZT,3_prime_UTR_variant,,ENST00000261219,;VEZT,non_coding_transcript_exon_variant,,ENST00000356859,;VEZT,non_coding_transcript_exon_variant,,ENST00000550106,;VEZT,non_coding_transcript_exon_variant,,ENST00000552306,;VEZT,downstream_gene_variant,,ENST00000551695,;VEZT,downstream_gene_variant,,ENST00000546951,;VEZT,3_prime_UTR_variant,,ENST00000547997,;VEZT,3_prime_UTR_variant,,ENST00000552660,;VEZT,3_prime_UTR_variant,,ENST00000551994,;VEZT,3_prime_UTR_variant,,ENST00000548838,;VEZT,downstream_gene_variant,,ENST00000549192,;	T	ENST00000436874	Transcript	missense_variant	2332/4562	2227/2340	743/779	A/S	Gca/Tca		1		1	VEZT	HGNC	HGNC:18258	protein_coding	YES	CCDS44954.1	ENSP00000410083	Q9HBM0		UPI00001FB2EC	NM_017599.3	deleterious(0)		12/12		hmmpanther:PTHR15989:SF5,hmmpanther:PTHR15989																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	95300560	95300560	G	T	1	0	0	0	0	1	0	0	0	17702	1319	46	2		2	VEZT	12	95300560	Missense_Mutation	SNP	G	C3N-00545_TP	18270659	95300560	37974749	234	15179											
CFAP54	0	.	GRCh38	chr12	96535597	96535597	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctgtgtctgcactgctccCcaggtgaaatagctatttta	8	14	9	10	0	2	1	0	1	2	0	3	1	3	1	2	1	3	3	2	1	4	4	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.1788C>A	p.=	p.P596P	ENST00000524981	12/68	235	218	17	34	34	0	strelka-mutect	CFAP54,synonymous_variant,p.=,ENST00000524981,NM_001306084.1;CFAP54,upstream_gene_variant,,ENST00000554108,;CFAP54,synonymous_variant,p.=,ENST00000553778,;	A	ENST00000524981	Transcript	synonymous_variant	1811/9766	1788/9291	596/3096	P	ccC/ccA		1		1	CFAP54	HGNC	HGNC:26456	protein_coding	YES	CCDS76588.1	ENSP00000431759	Q96N23		UPI0001F77A4D	NM_001306084.1			12/68		hmmpanther:PTHR33487,hmmpanther:PTHR33487:SF2,Pfam_domain:PF14858																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	48	96535597	96535597	C	A	1	0	0	0	0	0	0	0	1	3025	637	22	2		2	CFAP54	12	96535597	Silent	SNP	C	C3N-00545_TP	1235037	96535597	36739712	235	15180											
HNF1A	0	.	GRCh38	chr12	120994330	120994330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggccccccccagggccaGgcccgggacctgcgctgccc	3	2	15	21	3	0	0	0	0	0	0	0	1	0	1	8	4	2	1	8	4	0	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.880G>T	p.Gly294Cys	p.G294C	ENST00000544413	4/10	525	455	70	350	350	0	strelka-varscan-mutect	HNF1A,missense_variant,p.Gly294Cys,ENST00000257555,NM_000545.5;HNF1A,missense_variant,p.Gly294Cys,ENST00000541395,;HNF1A,missense_variant,p.Gly294Cys,ENST00000400024,;HNF1A,missense_variant,p.Gly294Cys,ENST00000544413,NM_001306179.1;HNF1A,intron_variant,,ENST00000543427,;HNF1A,intron_variant,,ENST00000617366,;HNF1A,intron_variant,,ENST00000615446,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000535955,;HNF1A,missense_variant,p.Gln231His,ENST00000538646,;HNF1A,3_prime_UTR_variant,,ENST00000540108,;HNF1A,non_coding_transcript_exon_variant,,ENST00000402929,;HNF1A,intron_variant,,ENST00000560968,;HNF1A,intron_variant,,ENST00000541924,;HNF1A,intron_variant,,ENST00000544574,;HNF1A,upstream_gene_variant,,ENST00000543255,;	T	ENST00000544413	Transcript	missense_variant	900/2014	880/1917	294/638	G/C	Ggc/Tgc		1		1	HNF1A	HGNC	HGNC:11621	protein_coding	YES	CCDS76611.1	ENSP00000438804		F5H0K0	UPI000204ABCC	NM_001306179.1	tolerated(0.06)		4/10		Pfam_domain:PF04812,hmmpanther:PTHR11568,hmmpanther:PTHR11568:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	120994330	120994330	G	T	1	0	0	0	0	1	0	0	0	7142	1000	35	2		2	HNF1A	12	120994330	Missense_Mutation	SNP	G	C3N-00545_TP	24458733	120994330	12280979	236	15181											
ARL6IP4	0	.	GRCh38	chr12	122981836	122981836	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctgccgggcccctcgctGgaccagtggcaccgatcagc	5	6	13	17	3	2	0	1	0	1	0	3	2	2	1	5	3	2	3	5	3	0	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.978G>T	p.=	p.L326L	ENST00000315580	3/6	104	97	7	80	80	0	strelka-varscan-mutect	ARL6IP4,synonymous_variant,p.=,ENST00000315580,NM_018694.3;ARL6IP4,synonymous_variant,p.=,ENST00000543566,NM_001278379.1,NM_016638.3;ARL6IP4,synonymous_variant,p.=,ENST00000453766,NM_001278378.1,NM_001002251.2;ARL6IP4,synonymous_variant,p.=,ENST00000392435,NM_001002252.2;ARL6IP4,synonymous_variant,p.=,ENST00000454885,NM_001278380.1;ARL6IP4,synonymous_variant,p.=,ENST00000542099,;ARL6IP4,synonymous_variant,p.=,ENST00000426960,;ARL6IP4,synonymous_variant,p.=,ENST00000413381,;ARL6IP4,synonymous_variant,p.=,ENST00000439686,;ARL6IP4,synonymous_variant,p.=,ENST00000456762,;ARL6IP4,intron_variant,,ENST00000412505,;ARL6IP4,intron_variant,,ENST00000357866,;PITPNM2,downstream_gene_variant,,ENST00000280562,NM_001300801.1;PITPNM2,downstream_gene_variant,,ENST00000320201,NM_020845.2;PITPNM2,downstream_gene_variant,,ENST00000542749,;ABCB9,upstream_gene_variant,,ENST00000542678,;OGFOD2,downstream_gene_variant,,ENST00000397389,NM_024623.2;OGFOD2,downstream_gene_variant,,ENST00000536150,NM_001304837.1;OGFOD2,downstream_gene_variant,,ENST00000538755,NM_001304834.1;OGFOD2,downstream_gene_variant,,ENST00000228922,NM_001304833.1;OGFOD2,downstream_gene_variant,,ENST00000538628,NM_001304835.1;OGFOD2,downstream_gene_variant,,ENST00000545056,;OGFOD2,downstream_gene_variant,,ENST00000454694,NM_001304838.1;OGFOD2,downstream_gene_variant,,ENST00000545317,;OGFOD2,downstream_gene_variant,,ENST00000545612,NM_001304836.1;OGFOD2,downstream_gene_variant,,ENST00000536439,;OGFOD2,downstream_gene_variant,,ENST00000537966,;OGFOD2,downstream_gene_variant,,ENST00000542117,;OGFOD2,downstream_gene_variant,,ENST00000544358,;OGFOD2,downstream_gene_variant,,ENST00000535970,;OGFOD2,downstream_gene_variant,,ENST00000545033,;OGFOD2,downstream_gene_variant,,ENST00000536615,;OGFOD2,downstream_gene_variant,,ENST00000542940,;OGFOD2,downstream_gene_variant,,ENST00000544852,;OGFOD2,downstream_gene_variant,,ENST00000541360,;RP11-197N18.2,non_coding_transcript_exon_variant,,ENST00000540866,;ARL6IP4,non_coding_transcript_exon_variant,,ENST00000540708,;ARL6IP4,non_coding_transcript_exon_variant,,ENST00000539576,;ARL6IP4,non_coding_transcript_exon_variant,,ENST00000540382,;ARL6IP4,non_coding_transcript_exon_variant,,ENST00000392433,;ARL6IP4,non_coding_transcript_exon_variant,,ENST00000536502,;ARL6IP4,intron_variant,,ENST00000539770,;ARL6IP4,intron_variant,,ENST00000442210,;OGFOD2,downstream_gene_variant,,ENST00000406539,;OGFOD2,downstream_gene_variant,,ENST00000540324,;OGFOD2,downstream_gene_variant,,ENST00000545396,;OGFOD2,downstream_gene_variant,,ENST00000542037,;OGFOD2,downstream_gene_variant,,ENST00000420319,;ARL6IP4,upstream_gene_variant,,ENST00000536073,;OGFOD2,downstream_gene_variant,,ENST00000545976,;	T	ENST00000315580	Transcript	synonymous_variant	1123/1644	978/1266	326/421	L	ctG/ctT		1		1	ARL6IP4	HGNC	HGNC:18076	protein_coding	YES	CCDS31923.2	ENSP00000313422	Q66PJ3		UPI0000D474C2	NM_018694.3			3/6		Pfam_domain:PF10500,hmmpanther:PTHR13595																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	122981836	122981836	G	T	1	0	0	0	0	0	0	0	1	1083	1335	47	2		2	ARL6IP4	12	122981836	Silent	SNP	G	C3N-00545_TP	1987506	122981836	10293473	237	15182											
TMEM132D	0	.	GRCh38	chr12	129700083	129700083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcccctctctcaccccctGggtgcacggtgtagtagagc	6	9	11	15	1	2	1	1	0	1	1	4	1	3	1	4	2	2	3	4	2	2	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.695C>A	p.Pro232Gln	p.P232Q	ENST00000422113	2/9	596	532	64	344	343	1	strelka-varscan-mutect	TMEM132D,missense_variant,p.Pro232Gln,ENST00000422113,NM_133448.2;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	T	ENST00000422113	Transcript	missense_variant	1022/5776	695/3300	232/1099	P/Q	cCa/cAa		1		-1	TMEM132D	HGNC	HGNC:29411	protein_coding	YES	CCDS9266.1	ENSP00000408581	Q14C87		UPI000023759C	NM_133448.2	deleterious(0.02)		2/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	129700083	129700083	G	T	1	0	0	0	0	1	0	0	0	16492	1348	47	2		2	TMEM132D	12	129700083	Missense_Mutation	SNP	G	C3N-00545_TP	6718247	129700083	3575226	238	15183											
ATP12A	0	.	GRCh38	chr13	24707363	24707363	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgtgcccctttctgatctAcatcattgtcgggctccccc	4	13	8	16	1	3	1	1	1	2	0	5	1	4	1	4	1	2	2	4	1	1	3	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.2441A>T	p.Tyr814Phe	p.Y814F	ENST00000218548	17/23	507	454	53	279	279	0	strelka-varscan-mutect	ATP12A,missense_variant,p.Tyr808Phe,ENST00000381946,NM_001676.5;ATP12A,missense_variant,p.Tyr814Phe,ENST00000218548,NM_001185085.1;RNY1P7,upstream_gene_variant,,ENST00000384743,;RPL26P34,upstream_gene_variant,,ENST00000431005,;	T	ENST00000218548	Transcript	missense_variant	2774/3732	2441/3138	814/1045	Y/F	tAc/tTc		1		1	ATP12A	HGNC	HGNC:13816	protein_coding	YES	CCDS53858.1	ENSP00000218548	P54707		UPI000006D1DE	NM_001185085.1	tolerated(1)		17/23		hmmpanther:PTHR24093:SF282,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01494,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01106,Superfamily_domains:0049473,Prints_domain:PR00121,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	24707363	24707363	A	T	1	0	0	0	0	1	0	0	0	1274	391	14	4		4	ATP12A	13	24707363	Missense_Mutation	SNP	A	C3N-00545_TP		24707363	89656965	239	15184											
GPR12	0	.	GRCh38	chr13	26759138	26759138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggtgctgcagggctatCtgatgggcgtgcctcatcac	7	10	14	10	1	3	1	2	1	1	0	3	1	3	1	1	3	3	3	1	3	2	1	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.690G>T	p.Gln230His	p.Q230H	ENST00000405846	2/2	506	430	76	268	267	1	strelka-varscan-mutect	GPR12,missense_variant,p.Gln230His,ENST00000405846,NM_005288.3;GPR12,missense_variant,p.Gln230His,ENST00000381436,;	A	ENST00000405846	Transcript	missense_variant	912/4850	690/1005	230/334	Q/H	caG/caT		1		-1	GPR12	HGNC	HGNC:4466	protein_coding	YES	CCDS9319.1	ENSP00000384932	P47775	A8K2F5	UPI000003EC24	NM_005288.3	deleterious(0)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF8,hmmpanther:PTHR22750,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00644																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	26759138	26759138	C	A	1	0	0	0	0	1	0	0	0	6528	912	32	2		2	GPR12	13	26759138	Missense_Mutation	SNP	C	C3N-00545_TP	2051775	26759138	87605190	240	15185											
LCP1	0	.	GRCh38	chr13	46142299	46142299	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagctatactaccttctcaTtagctgccaaatcaaggcca	13	11	5	12	0	2	0	2	0	1	0	3	0	2	0	3	1	5	2	3	1	7	6	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.1495A>T	p.Met499Leu	p.M499L	ENST00000398576	16/19	238	203	35	166	166	0	strelka-varscan-mutect	LCP1,missense_variant,p.Met499Leu,ENST00000398576,;LCP1,missense_variant,p.Met499Leu,ENST00000323076,NM_002298.4;LCP1,downstream_gene_variant,,ENST00000469227,;	A	ENST00000398576	Transcript	missense_variant	1884/3944	1495/1884	499/627	M/L	Atg/Ttg		1		-1	LCP1	HGNC	HGNC:6528	protein_coding	YES	CCDS9403.1	ENSP00000381581	P13796	A0A024RDT4	UPI0000070B5C		deleterious(0.04)		16/19		PROSITE_profiles:PS50021,hmmpanther:PTHR19961,hmmpanther:PTHR19961:SF35,PROSITE_patterns:PS00020,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	48	46142299	46142299	T	A	1	0	0	0	0	1	0	0	0	8597	1493	52	4		4	LCP1	13	46142299	Missense_Mutation	SNP	T	C3N-00545_TP	19383161	46142299	68222029	241	15186											
KIAA0226L	0	.	GRCh38	chr13	46372033	46372033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaaatcccagggcttgtgGgcagagacacccgatgagag	12	5	13	11	1	0	2	0	1	0	2	1	5	1	2	3	2	0	2	3	2	2	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.443C>A	p.Pro148His	p.P148H	ENST00000429979	3/15	504	450	54	290	290	0	strelka-varscan-mutect	KIAA0226L,missense_variant,p.Pro148His,ENST00000429979,NM_025113.3;KIAA0226L,missense_variant,p.Pro148His,ENST00000389908,NM_001286761.1;KIAA0226L,missense_variant,p.Pro148His,ENST00000378787,NM_001286762.1;KIAA0226L,missense_variant,p.Pro81His,ENST00000378784,NM_001286763.1;KIAA0226L,missense_variant,p.Pro13His,ENST00000631139,NM_001286764.1;KIAA0226L,missense_variant,p.Pro148His,ENST00000439642,;KIAA0226L,missense_variant,p.Pro13His,ENST00000417405,;KIAA0226L,intron_variant,,ENST00000378781,NM_001286765.1;KIAA0226L,intron_variant,,ENST00000378797,NM_001286766.1;KIAA0226L,intron_variant,,ENST00000409879,;RNU2-6P,downstream_gene_variant,,ENST00000411404,;KIAA0226L,missense_variant,p.Pro148His,ENST00000441284,;	T	ENST00000429979	Transcript	missense_variant	1048/3979	443/1989	148/662	P/H	cCc/cAc		1		-1	KIAA0226L	HGNC	HGNC:20420	protein_coding	YES	CCDS31970.2	ENSP00000396935	Q9H714		UPI00001FCD59	NM_025113.3	tolerated(0.54)		3/15		hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF14																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	48	46372033	46372033	G	T	1	0	0	0	0	1	0	0	0	8078	1232	43	2		2	KIAA0226L	13	46372033	Missense_Mutation	SNP	G	C3N-00545_TP	229734	46372033	67992295	242	15187											
PCDH20	0	.	GRCh38	chr13	61411976	61411976	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcttcaacccacaaagtaTaggagctttgctgctctctg	10	11	8	12	0	2	0	1	0	1	0	3	1	2	1	1	1	5	5	1	1	4	4	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.2123A>T	p.Tyr708Phe	p.Y708F	ENST00000409186	5/5	332	285	47	177	177	0	strelka-varscan-mutect	RP11-310K10.1,missense_variant,p.Tyr708Phe,ENST00000409186,;PCDH20,missense_variant,p.Tyr708Phe,ENST00000409204,NM_022843.3;	A	ENST00000409186	Transcript	missense_variant	4229/6347	2123/2856	708/951	Y/F	tAt/tTt		1		-1	RP11-310K10.1	Clone_based_vega_gene		protein_coding	YES	CCDS9442.2	ENSP00000386653			UPI000007371F		deleterious(0)		5/5		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	61411976	61411976	T	A	1	0	0	0	0	1	0	0	0	11602	1406	49	4		4	PCDH20	13	61411976	Missense_Mutation	SNP	T	C3N-00545_TP	15039943	61411976	52952352	243	15188											
FARP1	0	.	GRCh38	chr13	98411975	98411975	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcatattcccgaattttgaAcctttgcacaaatttcatac	12	15	3	11	1	2	1	2	1	0	0	3	2	3	1	2	0	3	1	2	0	5	7	rs765941843		C3N-00545_TP	C3N-00545_NB	A	A																c.1767A>T	p.Glu589Asp	p.E589D	ENST00000627049	16/28	402	354	48	159	159	0	strelka-varscan-mutect	FARP1,missense_variant,p.Glu589Asp,ENST00000319562,NM_005766.3;FARP1,missense_variant,p.Glu589Asp,ENST00000627049,;FARP1,missense_variant,p.Glu589Asp,ENST00000595437,NM_001286839.1;FARP1,downstream_gene_variant,,ENST00000596580,;FARP1,non_coding_transcript_exon_variant,,ENST00000457029,;	T	ENST00000627049	Transcript	missense_variant	2185/5103	1767/3231	589/1076	E/D	gaA/gaT	rs765941843	1		1	FARP1	HGNC	HGNC:3591	protein_coding	YES	CCDS66572.1	ENSP00000486285		C9JME2	UPI000041C6E3		tolerated(1)		16/28		PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF105,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065																	MODERATE	1	SNV	5			1										PASS		rs765941843	.												T	3	4	48	98411975	98411975	A	T	1	0	0	0	0	1	0	0	0	5536	40	2	4		4	FARP1	13	98411975	Missense_Mutation	SNP	A	C3N-00545_TP	36999999	98411975	15952353	244	15189											
NALCN	0	.	GRCh38	chr13	101399063	101399063	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcattatccgacagagactCatcaggaccaaagtcagtga	15	7	9	10	1	3	2	3	1	0	1	4	5	4	3	2	1	1	1	2	1	2	1	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.64G>T	p.Glu22Ter	p.E22*	ENST00000251127	2/44	253	221	32	214	214	0	strelka-varscan-mutect	NALCN,stop_gained,p.Glu22Ter,ENST00000251127,NM_052867.2;NALCN,stop_gained,p.Glu22Ter,ENST00000376200,;NALCN,non_coding_transcript_exon_variant,,ENST00000470333,;NALCN,non_coding_transcript_exon_variant,,ENST00000497170,;	A	ENST00000251127	Transcript	stop_gained	146/6818	64/5217	22/1738	E/*	Gag/Tag		1		-1	NALCN	HGNC	HGNC:19082	protein_coding	YES	CCDS9498.1	ENSP00000251127	Q8IZF0	A0A024RE05	UPI000004EBBD	NM_052867.2			2/44		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF214																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	48	101399063	101399063	C	A	1	0	0	0	0	0	1	0	0	10155	835	29	2		2	NALCN	13	101399063	Nonsense_Mutation	SNP	C	C3N-00545_TP	2987088	101399063	12965265	245	15190											
KDELC1	0	.	GRCh38	chr13	102793628	102793628	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctttaaggtgtagtgacaTaggctctgcctctgtccaaa	9	13	9	10	0	2	1	0	1	2	0	4	1	4	1	3	2	1	2	3	2	4	4	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.567A>T	p.=	p.L189L	ENST00000376004	3/10	290	236	54	165	165	0	strelka-varscan-mutect	KDELC1,synonymous_variant,p.=,ENST00000376004,NM_024089.2;KDELC1,non_coding_transcript_exon_variant,,ENST00000460338,;KDELC1,non_coding_transcript_exon_variant,,ENST00000486540,;KDELC1,upstream_gene_variant,,ENST00000484943,;	A	ENST00000376004	Transcript	synonymous_variant	904/2060	567/1509	189/502	L	ctA/ctT		1		-1	KDELC1	HGNC	HGNC:19350	protein_coding	YES	CCDS9504.1	ENSP00000365172	Q6UW63		UPI000004C663	NM_024089.2			3/10		hmmpanther:PTHR12203,hmmpanther:PTHR12203:SF21,Pfam_domain:PF05686																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	48	102793628	102793628	T	A	1	0	0	0	0	0	0	0	1	8034	1393	49	4		4	KDELC1	13	102793628	Silent	SNP	T	C3N-00545_TP	1394565	102793628	11570700	246	15191											
MYO16	0	.	GRCh38	chr13	108712678	108712678	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtgcttcggctcctgaagGagggggcagacccccacacc	8	5	13	15	1	0	2	0	1	0	1	2	3	1	3	4	4	1	3	4	4	1	1			C3N-00545_TP	C3N-00545_NB	G	G																c.310G>T	p.Glu104Ter	p.E104*	ENST00000457511	3/35	375	318	57	215	215	0	strelka-varscan-mutect	MYO16,stop_gained,p.Glu104Ter,ENST00000457511,NM_001198950.1;MYO16,stop_gained,p.Glu82Ter,ENST00000356711,NM_015011.1;MYO16,stop_gained,p.Glu82Ter,ENST00000357550,;MYO16,stop_gained,p.Glu82Ter,ENST00000251041,;	T	ENST00000457511	Transcript	stop_gained	932/7436	310/5643	104/1880	E/*	Gag/Tag	COSM4819711,COSM4819712	1		1	MYO16	HGNC	HGNC:29822	protein_coding	YES	CCDS73598.1	ENSP00000401633		F8W883	UPI00002375AE	NM_001198950.1			3/35		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,Superfamily_domains:SSF48403											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												T	4	4	48	108712678	108712678	G	T	1	0	0	0	0	0	1	0	0	10065	1175	41	2		2	MYO16	13	108712678	Nonsense_Mutation	SNP	G	C3N-00545_TP	5919050	108712678	5651650	247	15192											
TEP1	0	.	GRCh38	chr14	20379008	20379008	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctgcaggtcccagagcTccaggagcccgtcgaaggca	9	5	13	14	2	0	1	0	0	0	1	3	3	2	2	3	3	4	4	3	3	1	0	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.5225A>T	p.Glu1742Val	p.E1742V	ENST00000262715	36/55	312	292	20	173	173	0	strelka-varscan-mutect	TEP1,missense_variant,p.Glu1742Val,ENST00000262715,NM_007110.4;TEP1,missense_variant,p.Glu1634Val,ENST00000556935,;TEP1,missense_variant,p.Glu1085Val,ENST00000555008,;TEP1,3_prime_UTR_variant,,ENST00000555727,;TEP1,3_prime_UTR_variant,,ENST00000557314,;TEP1,upstream_gene_variant,,ENST00000556488,;TEP1,upstream_gene_variant,,ENST00000471684,;	A	ENST00000262715	Transcript	missense_variant	5266/10695	5225/7884	1742/2627	E/V	gAg/gTg		1		-1	TEP1	HGNC	HGNC:11726	protein_coding	YES	CCDS9548.1	ENSP00000262715	Q99973		UPI000013D30B	NM_007110.4	deleterious(0)		36/55		PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF448,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	20379008	20379008	T	A	1	0	0	0	0	1	0	0	0	16175	1551	54	4		4	TEP1	14	20379008	Missense_Mutation	SNP	T	C3N-00545_TP		20379008	86664710	248	15193											
RP11-244E17.1	0	.	GRCh38	chr14	23102406	23102406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtgtttggccaggctgaGgctaacagctggggtggtga	8	9	17	7	0	0	2	0	2	0	0	0	2	0	2	1	6	2	4	1	6	2	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1072C>A	p.Leu358Ile	p.L358I	ENST00000637218	9/16	169	158	11	119	119	0	strelka-varscan-mutect	RP11-244E17.1,missense_variant,p.Leu358Ile,ENST00000637218,;C14orf119,downstream_gene_variant,,ENST00000319074,NM_017924.3;C14orf119,downstream_gene_variant,,ENST00000554203,;	T	ENST00000637218	Transcript	missense_variant	1144/2656	1072/2367	358/788	L/I	Ctc/Atc		1		-1	RP11-244E17.1	Clone_based_vega_gene		protein_coding	YES		ENSP00000489869							9/16		hmmpanther:PTHR10942,hmmpanther:PTHR10942:SF6,Gene3D:1lmlA02,Pfam_domain:PF01457,Superfamily_domains:SSF55486																	MODERATE		SNV				1										PASS		.	.												T	3	4	48	23102406	23102406	G	T	1	0	0	0	0	1	0	0	0	13723	1000	35	2		2	RP11-244E17.1	14	23102406	Missense_Mutation	SNP	G	C3N-00545_TP	2723398	23102406	83941312	249	15194											
CMA1	0	.	GRCh38	chr14	24505602	24505602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcatccgaccgtcCataggatacgatgccctggg	7	9	13	12	3	0	0	0	0	0	0	2	3	2	1	4	3	3	2	4	3	2	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.658G>A	p.Gly220Arg	p.G220R	ENST00000250378	5/5	293	272	21	201	201	0	strelka-varscan-mutect	CMA1,missense_variant,p.Gly220Arg,ENST00000250378,NM_001836.3;CMA1,missense_variant,p.Gly109Arg,ENST00000206446,NM_001308083.1;RP11-80A15.1,intron_variant,,ENST00000555109,;	T	ENST00000250378	Transcript	missense_variant	688/937	658/744	220/247	G/R	Gga/Aga		1		-1	CMA1	HGNC	HGNC:2097	protein_coding	YES	CCDS9630.1	ENSP00000250378	P23946		UPI000012EDED	NM_001836.3	deleterious(0.03)		5/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF24,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	24505602	24505602	C	T	1	0	0	0	0	1	0	0	0	3347	603	21	3		3	CMA1	14	24505602	Missense_Mutation	SNP	C	C3N-00545_TP	1403196	24505602	82538116	250	15195											
SLC25A21	0	.	GRCh38	chr14	36711391	36711391	+	Frame_Shift_Del	DEL	C	C	-																															tgttgaaaactccatgtcgtCccaaagttgcagttaatcct																								novel		C3N-00545_TP	C3N-00545_NB	C	C																c.530delG	p.Gly177AspfsTer20	p.G177Dfs*20	ENST00000331299	7/10	372	290	82	113	113	0	sindel-varindel-pindel	SLC25A21,frameshift_variant,p.Gly177AspfsTer20,ENST00000331299,NM_030631.3;SLC25A21,frameshift_variant,p.Gly177AspfsTer20,ENST00000555449,NM_001171170.1;SLC25A21,non_coding_transcript_exon_variant,,ENST00000556444,;	-	ENST00000331299	Transcript	frameshift_variant	1046/2785	530/900	177/299	G/X	gGa/ga		1		-1	SLC25A21	HGNC	HGNC:14411	protein_coding	YES	CCDS9663.1	ENSP00000329452	Q9BQT8		UPI0000130BCE	NM_030631.3			7/10		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF390																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	48	36711391	36711391	C	-	1	0	1	0	1	0	0	0	0	14749	855	30	0		0	SLC25A21	14	36711391	Frame_Shift_Del	DEL	C	C3N-00545_TP	12205789	36711391	70332327	251	15196											
LRFN5	0	.	GRCh38	chr14	41887383	41887383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattgttgtggttgaggcGtctgtccagagaagatgact	9	13	14	5	1	1	5	0	3	1	2	2	6	2	5	1	2	0	2	1	2	2	3			C3N-00545_TP	C3N-00545_NB	G	G																c.758G>T	p.Arg253Leu	p.R253L	ENST00000298119	3/6	347	328	19	204	204	0	strelka-varscan-mutect	LRFN5,missense_variant,p.Arg253Leu,ENST00000554171,;LRFN5,missense_variant,p.Arg253Leu,ENST00000298119,NM_152447.3;LRFN5,missense_variant,p.Arg253Leu,ENST00000554120,;	T	ENST00000298119	Transcript	missense_variant	1947/3723	758/2160	253/719	R/L	cGt/cTt	COSM249115	1		1	LRFN5	HGNC	HGNC:20360	protein_coding	YES	CCDS9678.1	ENSP00000298119	Q96NI6		UPI000000DA1E	NM_152447.3	deleterious(0)		3/6		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,Gene3D:3.80.10.10,Superfamily_domains:SSF52058											1						MODERATE	1	SNV	1		1	1										PASS		rs1358755376	.												T	3	4	48	41887383	41887383	G	T	1	0	0	0	0	1	0	0	0	8835	1145	40	1		1	LRFN5	14	41887383	Missense_Mutation	SNP	G	C3N-00545_TP	5175992	41887383	65156335	252	15197											
NIN	0	.	GRCh38	chr14	50761911	50761911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcattcttcagaaccgagcCctgaaaacacatgggactca	13	8	8	12	1	3	2	2	1	1	1	3	4	3	3	2	1	4	1	2	1	3	2	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.1775G>T	p.Gly592Val	p.G592V	ENST00000382041	16/30	174	163	11	80	80	0	strelka-varscan-mutect	NIN,missense_variant,p.Gly592Val,ENST00000245441,NM_020921.3;NIN,missense_variant,p.Gly592Val,ENST00000530997,;NIN,missense_variant,p.Gly592Val,ENST00000453196,NM_182944.2;NIN,missense_variant,p.Gly592Val,ENST00000382041,NM_182946.1;NIN,missense_variant,p.Gly83Val,ENST00000530853,;NIN,missense_variant,p.Gly83Val,ENST00000389869,;NIN,missense_variant,p.Gly592Val,ENST00000324330,NM_016350.4;NIN,missense_variant,p.Gly592Val,ENST00000382043,;NIN,missense_variant,p.Gly592Val,ENST00000476352,;	A	ENST00000382041	Transcript	missense_variant,splice_region_variant	1966/6496	1775/6273	592/2090	G/V	gGg/gTg		1		-1	NIN	HGNC	HGNC:14906	protein_coding	YES	CCDS32079.1	ENSP00000371472	Q8N4C6		UPI0000DBEF14	NM_182946.1	deleterious(0.01)		16/30		hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	50761911	50761911	C	A	1	0	0	0	0	1	0	0	0	10452	637	22	2		2	NIN	14	50761911	Missense_Mutation	SNP	C	C3N-00545_TP	8874528	50761911	56281807	253	15198											
C14orf166	0	.	GRCh38	chr14	51991413	51991413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatttaagaaacatccacaGcagcgactggcccaagttct	14	8	8	11	1	1	1	0	0	1	1	2	3	2	1	2	1	3	2	2	1	4	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.158G>T	p.Ser53Ile	p.S53I	ENST00000261700	2/8	341	320	21	77	77	0	strelka-varscan-mutect	C14orf166,missense_variant,p.Ser53Ile,ENST00000261700,NM_016039.2;C14orf166,missense_variant,p.Ser53Ile,ENST00000556760,;C14orf166,upstream_gene_variant,,ENST00000553362,;RP11-463J10.4,upstream_gene_variant,,ENST00000555115,;C14orf166,missense_variant,p.Ser53Ile,ENST00000557553,;	T	ENST00000261700	Transcript	missense_variant	323/7075	158/735	53/244	S/I	aGc/aTc		1		1	C14orf166	HGNC	HGNC:23169	protein_coding	YES	CCDS9705.1	ENSP00000261700	Q9Y224	Q549M8	UPI000012759D	NM_016039.2	deleterious(0)		2/8		hmmpanther:PTHR15924,Pfam_domain:PF10036																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	51991413	51991413	G	T	1	0	0	0	0	1	0	0	0	1831	971	34	2		2	C14orf166	14	51991413	Missense_Mutation	SNP	G	C3N-00545_TP	1229502	51991413	55052305	254	15199											
TXNDC16	0	.	GRCh38	chr14	52432508	52432508	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaactttcctagtgccacgTtgagatgttgcggcatctat	8	13	11	9	2	1	1	0	1	1	1	2	3	2	2	2	2	3	3	2	2	3	5	rs374445129		C3N-00545_TP	C3N-00545_NB	T	T																c.2274A>T	p.Gln758His	p.Q758H	ENST00000281741	21/21	281	266	15	71	71	0	strelka-varscan-mutect	TXNDC16,missense_variant,p.Gln758His,ENST00000281741,NM_001160047.1,NM_020784.2;	A	ENST00000281741	Transcript	missense_variant	2646/4564	2274/2478	758/825	Q/H	caA/caT	rs374445129	1		-1	TXNDC16	HGNC	HGNC:19965	protein_coding	YES	CCDS32083.1	ENSP00000281741	Q9P2K2		UPI000059D245	NM_001160047.1,NM_020784.2	tolerated(0.26)		21/21		hmmpanther:PTHR22699,hmmpanther:PTHR22699:SF1																	MODERATE	1	SNV	1			1										PASS		rs374445129	.												A	3	1	48	52432508	52432508	T	A	1	0	0	0	0	1	0	0	0	17311	1722	60	4		4	TXNDC16	14	52432508	Missense_Mutation	SNP	T	C3N-00545_TP	441095	52432508	54611210	255	15200											
YLPM1	0	.	GRCh38	chr14	74764081	74764081	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgcagtccccaccttccCaatcctacctggcgcccacc	6	8	5	22	2	0	0	0	0	0	0	4	0	3	0	8	1	1	1	8	1	2	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.592C>T	p.Gln198Ter	p.Q198*	ENST00000325680	1/21	305	285	20	159	159	0	strelka-varscan-mutect	YLPM1,stop_gained,p.Gln198Ter,ENST00000325680,NM_019589.2;YLPM1,stop_gained,p.Gln198Ter,ENST00000552421,;	T	ENST00000325680	Transcript	stop_gained	716/7108	592/6441	198/2146	Q/*	Caa/Taa		1		1	YLPM1	HGNC	HGNC:17798	protein_coding	YES	CCDS45135.1	ENSP00000324463	P49750		UPI00006C1433	NM_019589.2			1/21		Low_complexity_(Seg):seg,hmmpanther:PTHR13413:SF0,hmmpanther:PTHR13413																	HIGH	1	SNV	5			1										PASS		rs1403019839	.												T	4	4	48	74764081	74764081	C	T	1	0	0	0	0	0	1	0	0	18048	595	21	3		3	YLPM1	14	74764081	Nonsense_Mutation	SNP	C	C3N-00545_TP	22331573	74764081	32279637	256	15201											
NGB	0	.	GRCh38	chr14	77270894	77270894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgggctgcggctcactGcccgccagctctgccggatc	4	6	13	18	4	2	0	1	0	1	0	3	1	2	1	4	3	5	3	4	3	0	0	rs749380443		C3N-00545_TP	C3N-00545_NB	G	G																c.44C>A	p.Ala15Glu	p.A15E	ENST00000298352	1/4	370	351	19	261	261	0	strelka-mutect	NGB,missense_variant,p.Ala15Glu,ENST00000298352,NM_021257.3;POMT2,downstream_gene_variant,,ENST00000261534,NM_013382.5;MIR1260A,downstream_gene_variant,,ENST00000408827,;POMT2,downstream_gene_variant,,ENST00000452340,;POMT2,downstream_gene_variant,,ENST00000554767,;	T	ENST00000298352	Transcript	missense_variant	419/1884	44/456	15/151	A/E	gCa/gAa	rs749380443	1		-1	NGB	HGNC	HGNC:14077	protein_coding	YES	CCDS9856.1	ENSP00000298352	Q9NPG2	A0M8W9	UPI0000073D72	NM_021257.3	tolerated(0.62)		1/4		PROSITE_profiles:PS01033,hmmpanther:PTHR22924,Gene3D:1.10.490.10,Pfam_domain:PF00042,Superfamily_domains:SSF46458																	MODERATE	1	SNV	1			1										PASS		rs749380443	.												T	3	4	48	77270894	77270894	G	T	1	0	0	0	0	1	0	0	0	10428	1319	46	2		2	NGB	14	77270894	Missense_Mutation	SNP	G	C3N-00545_TP	2506813	77270894	29772824	257	15202											
C14orf159	0	.	GRCh38	chr14	91199816	91199816	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgatggcaattactacaAtgcaaggaagatgaacatca	16	9	9	7	0	1	3	1	2	0	1	1	4	1	4	0	2	5	3	0	2	7	2	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.1355A>G	p.Asn452Ser	p.N452S	ENST00000518868	14/17	379	356	23	195	195	0	strelka-varscan-mutect	C14orf159,missense_variant,p.Asn452Ser,ENST00000518868,NM_001286470.1;C14orf159,missense_variant,p.Asn447Ser,ENST00000523771,NM_001286471.1;C14orf159,missense_variant,p.Asn452Ser,ENST00000256324,NM_001102368.2;C14orf159,missense_variant,p.Asn447Ser,ENST00000522322,NM_001102367.2;C14orf159,missense_variant,p.Asn447Ser,ENST00000523816,NM_001102366.2;C14orf159,missense_variant,p.Asn452Ser,ENST00000521077,NM_001286472.1;C14orf159,missense_variant,p.Asn435Ser,ENST00000520328,NM_001102369.2;C14orf159,missense_variant,p.Asn452Ser,ENST00000412671,;C14orf159,missense_variant,p.Asn447Ser,ENST00000428926,NM_024952.7;C14orf159,missense_variant,p.Asn452Ser,ENST00000525393,;C14orf159,missense_variant,p.Asn48Ser,ENST00000522816,;C14orf159,downstream_gene_variant,,ENST00000517518,;C14orf159,non_coding_transcript_exon_variant,,ENST00000557303,;C14orf159,missense_variant,p.Asn437Ser,ENST00000523461,;C14orf159,missense_variant,p.Asn328Ser,ENST00000517306,;C14orf159,3_prime_UTR_variant,,ENST00000523837,;	G	ENST00000518868	Transcript	missense_variant	2045/3075	1355/1866	452/621	N/S	aAt/aGt		1		1	C14orf159	HGNC	HGNC:20498	protein_coding	YES	CCDS41979.1	ENSP00000428263	Q7Z3D6		UPI000000CC60	NM_001286470.1	tolerated(0.08)		14/17		hmmpanther:PTHR32022,Pfam_domain:PF14336,PIRSF_domain:PIRSF037204																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	48	91199816	91199816	A	G	1	0	0	0	0	1	0	0	0	1830	101	4	5		5	C14orf159	14	91199816	Missense_Mutation	SNP	A	C3N-00545_TP	13928922	91199816	15843902	258	15203											
SYNE3	0	.	GRCh38	chr14	95439913	95439913	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgagggaaccaccgccttaCctcaaactcggcctcttggg	8	8	11	14	2	2	1	1	1	1	0	3	2	2	2	5	3	3	0	5	3	3	2	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.2073+1G>T		p.X691_splice	ENST00000334258		120	110	10	47	47	0	strelka-mutect	SYNE3,splice_donor_variant,,ENST00000557275,;SYNE3,splice_donor_variant,,ENST00000334258,NM_152592.3;SYNE3,splice_donor_variant,,ENST00000554873,;SYNE3,downstream_gene_variant,,ENST00000553340,;SYNE3,splice_donor_variant,,ENST00000555759,;	A	ENST00000334258	Transcript	splice_donor_variant	-/3275	2073/2928	691/975				1		-1	SYNE3	HGNC	HGNC:19861	protein_coding	YES	CCDS9935.1	ENSP00000334308	Q6ZMZ3		UPI0000246F54	NM_152592.3				11/16																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	48	95439913	95439913	C	A	1	0	0	0	0	0	0	1	0	15839	521	18	2		2	SYNE3	14	95439913	Splice_Site	SNP	C	C3N-00545_TP	4240097	95439913	11603805	259	15204											
EVL	0	.	GRCh38	chr14	100126721	100126721	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagacaagtgatggagcAgcaccagcagcagcgtcagg	12	5	13	11	1	1	2	1	1	0	1	2	3	2	3	2	2	5	4	2	2	1	1	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.437A>T	p.Gln146Leu	p.Q146L	ENST00000392920	5/14	296	280	16	130	130	0	strelka-varscan	EVL,missense_variant,p.Gln150Leu,ENST00000544450,;EVL,missense_variant,p.Gln144Leu,ENST00000402714,;EVL,missense_variant,p.Gln146Leu,ENST00000392920,NM_016337.2;EVL,missense_variant,p.Gln40Leu,ENST00000557384,;EVL,missense_variant,p.Gln131Leu,ENST00000557153,;EVL,upstream_gene_variant,,ENST00000554695,;EVL,downstream_gene_variant,,ENST00000555706,;EVL,non_coding_transcript_exon_variant,,ENST00000553910,;EVL,3_prime_UTR_variant,,ENST00000554045,;EVL,3_prime_UTR_variant,,ENST00000553875,;EVL,upstream_gene_variant,,ENST00000554031,;	T	ENST00000392920	Transcript	missense_variant	660/1978	437/1257	146/418	Q/L	cAg/cTg		1		1	EVL	HGNC	HGNC:20234	protein_coding	YES	CCDS9955.1	ENSP00000376652	Q9UI08		UPI000002A92F	NM_016337.2	tolerated(0.09)		5/14		PIRSF_domain:PIRSF038010,hmmpanther:PTHR11202,hmmpanther:PTHR11202:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	100126721	100126721	A	T	1	0	0	0	0	1	0	0	0	5158	188	7	4		4	EVL	14	100126721	Missense_Mutation	SNP	A	C3N-00545_TP	4686808	100126721	6916997	260	15205											
KIF26A	0	.	GRCh38	chr14	104152288	104152288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcagccaggacgagctGggccagacaggaccaagggg	11	1	19	10	1	0	1	0	0	0	1	0	5	0	4	3	7	2	2	3	7	1	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.562G>T	p.Gly188Trp	p.G188W	ENST00000423312	3/15	301	275	26	199	199	0	strelka-varscan-mutect	KIF26A,missense_variant,p.Gly49Trp,ENST00000315264,;KIF26A,missense_variant,p.Gly188Trp,ENST00000423312,NM_015656.1;	T	ENST00000423312	Transcript	missense_variant	562/5649	562/5649	188/1882	G/W	Ggg/Tgg		1		1	KIF26A	HGNC	HGNC:20226	protein_coding	YES	CCDS45171.1	ENSP00000388241	Q9ULI4		UPI00006C145D	NM_015656.1	deleterious(0)		3/15		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	48	104152288	104152288	G	T	1	0	0	0	0	1	0	0	0	8159	1348	47	2		2	KIF26A	14	104152288	Missense_Mutation	SNP	G	C3N-00545_TP	4025567	104152288	2891430	261	15206											
C14orf80	0	.	GRCh38	chr14	105497880	105497880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccctgggtccccgagcgcgGgggtggcgagttggacctgg	3	6	20	12	4	0	0	0	0	0	0	1	3	1	1	4	6	1	1	4	6	0	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.854G>T	p.Gly285Val	p.G285V	ENST00000392522	7/8	198	181	17	114	114	0	strelka-mutect	C14orf80,missense_variant,p.Gly213Val,ENST00000329886,NM_001198983.1;C14orf80,missense_variant,p.Gly354Val,ENST00000392523,;C14orf80,missense_variant,p.Gly285Val,ENST00000392522,NM_001134875.1;C14orf80,missense_variant,p.Gly252Val,ENST00000354560,NM_001134876.1;C14orf80,missense_variant,p.Gly211Val,ENST00000392527,NM_001134877.1;C14orf80,missense_variant,p.Gly107Val,ENST00000334656,;C14orf80,missense_variant,p.Gly244Val,ENST00000432805,;C14orf80,missense_variant,p.Gly107Val,ENST00000450383,;C14orf80,downstream_gene_variant,,ENST00000455454,;C14orf80,downstream_gene_variant,,ENST00000421892,;C14orf80,non_coding_transcript_exon_variant,,ENST00000551054,;C14orf80,3_prime_UTR_variant,,ENST00000548920,;C14orf80,non_coding_transcript_exon_variant,,ENST00000551538,;C14orf80,non_coding_transcript_exon_variant,,ENST00000546492,;C14orf80,downstream_gene_variant,,ENST00000546536,;C14orf80,downstream_gene_variant,,ENST00000463869,;	T	ENST00000392522	Transcript	missense_variant	981/1630	854/1281	285/426	G/V	gGg/gTg		1		1	C14orf80	HGNC	HGNC:20127	protein_coding	YES	CCDS45181.1	ENSP00000376307	Q86SX3		UPI00017FB9D4	NM_001134875.1	tolerated(0.57)		7/8		Pfam_domain:PF14971,hmmpanther:PTHR35076,hmmpanther:PTHR35076:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	48	105497880	105497880	G	T	1	0	0	0	0	1	0	0	0	1841	1232	43	2		2	C14orf80	14	105497880	Missense_Mutation	SNP	G	C3N-00545_TP	1345592	105497880	1545838	262	15207											
GOLGA8K	0	.	GRCh38	chr15	32401428	32401428	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgttttcctgttcctgttCgctcctgctggaactctagg	3	18	9	11	1	1	0	0	0	1	0	5	1	4	1	3	2	2	5	3	2	2	6	rs370061691		C3N-00545_TP	C3N-00545_NB	C	C																c.96G>A	p.=	p.A32A	ENST00000512626	2/19	148	137	11	75	74	1	varscan-mutect	GOLGA8K,synonymous_variant,p.=,ENST00000512626,NM_001282493.1;RP13-395E19.3,non_coding_transcript_exon_variant,,ENST00000562108,;GOLGA8K,downstream_gene_variant,,ENST00000435655,;	T	ENST00000512626	Transcript	synonymous_variant	97/1894	96/1893	32/630	A	gcG/gcA	rs370061691	1		-1	GOLGA8K	HGNC	HGNC:38652	protein_coding	YES	CCDS61577.1	ENSP00000426691	D6RF30		UPI0001A5E7CC	NM_001282493.1			2/19		hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48																	LOW		SNV	5			1										PASS		rs370061691	.												T	2	4	48	32401428	32401428	C	T	1	0	0	0	0	0	0	0	1	6453	871	31	1		1	GOLGA8K	15	32401428	Silent	SNP	C	C3N-00545_TP		32401428	69589761	263	15208											
HDC	0	.	GRCh38	chr15	50263278	50263278	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccccaaagatgctgtccCagctgtcggggtcctcagga	7	9	12	13	1	1	1	1	0	0	1	5	2	4	2	4	3	2	2	4	3	1	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.161G>A	p.Trp54Ter	p.W54*	ENST00000267845	2/12	748	672	76	436	436	0	strelka-varscan-mutect	HDC,stop_gained,p.Trp54Ter,ENST00000267845,NM_002112.3;HDC,stop_gained,p.Trp54Ter,ENST00000543581,NM_001306146.1;HDC,stop_gained,p.Trp48Ter,ENST00000559683,;HDC,non_coding_transcript_exon_variant,,ENST00000558679,;HDC,non_coding_transcript_exon_variant,,ENST00000558761,;HDC,non_coding_transcript_exon_variant,,ENST00000559190,;	T	ENST00000267845	Transcript	stop_gained	564/2705	161/1989	54/662	W/*	tGg/tAg		1		-1	HDC	HGNC	HGNC:4855	protein_coding	YES	CCDS10134.1	ENSP00000267845	P19113		UPI0000128FB4	NM_002112.3			2/12		Gene3D:3k40A01,Pfam_domain:PF00282,Prints_domain:PR00800,hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF68,Superfamily_domains:SSF53383																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	48	50263278	50263278	C	T	1	0	0	0	0	0	1	0	0	6902	595	21	3		3	HDC	15	50263278	Nonsense_Mutation	SNP	C	C3N-00545_TP	17861850	50263278	51727911	264	15209											
NOX5	0	.	GRCh38	chr15	69035394	69035394	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctggctgcgggccaCgtggctggctcaagtcctac	5	8	12	16	2	2	0	2	0	0	0	3	0	3	0	4	4	2	3	4	4	2	1	rs145609289		C3N-00545_TP	C3N-00545_NB	C	C																c.896C>A	p.Thr299Lys	p.T299K	ENST00000388866	6/16	295	266	29	225	225	0	strelka-varscan-mutect	NOX5,missense_variant,p.Thr281Lys,ENST00000260364,;NOX5,missense_variant,p.Thr299Lys,ENST00000388866,NM_024505.3;NOX5,missense_variant,p.Thr253Lys,ENST00000448182,;NOX5,missense_variant,p.Thr271Lys,ENST00000530406,NM_001184779.1;NOX5,missense_variant,p.Thr264Lys,ENST00000455873,NM_001184780.1;RP11-809H16.4,downstream_gene_variant,,ENST00000559495,;NOX5,missense_variant,p.Thr99Lys,ENST00000525143,;NOX5,non_coding_transcript_exon_variant,,ENST00000527315,;	A	ENST00000388866	Transcript	missense_variant	937/2804	896/2298	299/765	T/K	aCg/aAg	rs145609289	1		1	NOX5	HGNC	HGNC:14874	protein_coding	YES	CCDS32276.2	ENSP00000373518	Q96PH1		UPI000006DDBD	NM_024505.3	deleterious(0.03)		6/16		hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF58,Pfam_domain:PF01794																	MODERATE	1	SNV	1			1										PASS		rs145609289	.												A	3	1	48	69035394	69035394	C	A	1	0	0	0	0	1	0	0	0	10605	536	19	1		1	NOX5	15	69035394	Missense_Mutation	SNP	C	C3N-00545_TP	18772116	69035394	32955795	265	15210											
TMC3	0	.	GRCh38	chr15	81345000	81345000	+	Frame_Shift_Del	DEL	G	G	-																															caatgacttgtgttatttttGgtagccatttcctggggaga																								novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1284delC	p.Asn430IlefsTer7	p.N430Ifs*7	ENST00000359440	13/22	193	180	13	166	166	0	varindel-pindel	TMC3,frameshift_variant,p.Asn431IlefsTer7,ENST00000558726,;TMC3,frameshift_variant,p.Asn430IlefsTer7,ENST00000359440,NM_001080532.1;TMC3-AS1,intron_variant,,ENST00000559781,;TMC3-AS1,intron_variant,,ENST00000560851,;TMC3-AS1,downstream_gene_variant,,ENST00000559277,;TMC3-AS1,downstream_gene_variant,,ENST00000560973,;TMC3,non_coding_transcript_exon_variant,,ENST00000559982,;	-	ENST00000359440	Transcript	frameshift_variant	1420/4641	1284/3303	428/1100	T/X	acC/ac		1		-1	TMC3	HGNC	HGNC:22995	protein_coding	YES	CCDS45324.1	ENSP00000352413	Q7Z5M5		UPI00006C154A	NM_001080532.1			13/22		hmmpanther:PTHR23302:SF35,hmmpanther:PTHR23302																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	48	81345000	81345000	G	-	1	0	1	0	1	0	0	0	0	16432	1335	47	0		0	TMC3	15	81345000	Frame_Shift_Del	DEL	G	C3N-00545_TP	12309606	81345000	20646189	266	15211											
BNC1	0	.	GRCh38	chr15	83263908	83263908	+	Frame_Shift_Del	DEL	G	G	-																															tgggaggaggcctacagtctGgggacgtcactgtgaaacct																								novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1343delC	p.Pro448GlnfsTer35	p.P448Qfs*35	ENST00000345382	4/5	395	357	38	283	283	0	sindel-varindel-pindel	BNC1,frameshift_variant,p.Pro448GlnfsTer35,ENST00000345382,NM_001717.3;BNC1,frameshift_variant,p.Pro441GlnfsTer35,ENST00000569704,NM_001301206.1;RP11-382A20.4,intron_variant,,ENST00000565495,;	-	ENST00000345382	Transcript	frameshift_variant	1429/4610	1343/2985	448/994	P/X	cCa/ca		1		-1	BNC1	HGNC	HGNC:1081	protein_coding	YES	CCDS10324.1	ENSP00000307041	Q01954		UPI0000126796	NM_001717.3			4/5		hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	48	83263908	83263908	G	-	1	0	1	0	1	0	0	0	0	1630	1348	47	0		0	BNC1	15	83263908	Frame_Shift_Del	DEL	G	C3N-00545_TP	1918908	83263908	18727281	267	15212											
AGBL1	0	.	GRCh38	chr15	86397446	86397446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggtgatgaagggtaccttgGagttcctggtcagcagtgac	8	10	16	7	0	1	3	1	3	0	0	2	4	2	4	2	4	2	3	2	4	2	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.2455G>A	p.Glu819Lys	p.E819K	ENST00000441037	18/25	248	229	19	106	106	0	strelka-varscan-mutect	AGBL1,missense_variant,p.Glu39Lys,ENST00000614907,;AGBL1,missense_variant,p.Glu819Lys,ENST00000441037,;AGBL1,missense_variant,p.Glu773Lys,ENST00000635782,NM_152336.2;AGBL1,missense_variant,p.Glu773Lys,ENST00000421325,;	A	ENST00000441037	Transcript	missense_variant	2455/3551	2455/3339	819/1112	E/K	Gag/Aag		1		1	AGBL1	Clone_based_vega_gene	HGNC:26504	protein_coding	YES		ENSP00000413001	Q96MI9		UPI000387C1D9		deleterious(0.04)		18/25		Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF5,Superfamily_domains:SSF53187																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	48	86397446	86397446	G	A	1	0	0	0	0	1	0	0	0	451	1175	41	3		3	AGBL1	15	86397446	Missense_Mutation	SNP	G	C3N-00545_TP	3133538	86397446	15593743	268	15213											
LRRK1	0	.	GRCh38	chr15	101066695	101066695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggattctggcgcccagcggGgccgagtcattgccgtctta	6	9	14	12	4	3	0	1	0	2	0	3	2	3	1	3	4	2	0	3	4	1	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.5824G>T	p.Gly1942Cys	p.G1942C	ENST00000388948	33/34	352	314	38	164	164	0	strelka-varscan-mutect	LRRK1,missense_variant,p.Gly1942Cys,ENST00000388948,NM_024652.4;RP11-505E24.2,intron_variant,,ENST00000559857,;LRRK1,non_coding_transcript_exon_variant,,ENST00000532145,;LRRK1,downstream_gene_variant,,ENST00000525395,;LRRK1,missense_variant,p.Gly619Cys,ENST00000526457,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;	T	ENST00000388948	Transcript	missense_variant	6183/7671	5824/6048	1942/2015	G/C	Ggc/Tgc		1		1	LRRK1	HGNC	HGNC:18608	protein_coding	YES	CCDS42086.1	ENSP00000373600	Q38SD2		UPI0000D4FE63	NM_024652.4	deleterious(0)		33/34		hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF498																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	48	101066695	101066695	G	T	1	0	0	0	0	1	0	0	0	8938	1232	43	2		2	LRRK1	15	101066695	Missense_Mutation	SNP	G	C3N-00545_TP	14669249	101066695	924494	269	15214											
TRAF7	0	.	GRCh38	chr16	2171283	2171283	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccactggtgtttgcggAgcagccctcggtgaagctgt	6	9	16	10	2	0	1	0	1	0	0	1	3	0	3	2	4	5	3	2	4	1	1	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.368A>T	p.Glu123Val	p.E123V	ENST00000326181	6/21	187	166	21	215	213	2	strelka-varscan-mutect	TRAF7,missense_variant,p.Glu123Val,ENST00000326181,NM_032271.2;TRAF7,missense_variant,p.Glu123Val,ENST00000567645,;TRAF7,downstream_gene_variant,,ENST00000565383,;TRAF7,downstream_gene_variant,,ENST00000567653,;TRAF7,3_prime_UTR_variant,,ENST00000564067,;TRAF7,non_coding_transcript_exon_variant,,ENST00000569686,;TRAF7,upstream_gene_variant,,ENST00000570169,;	T	ENST00000326181	Transcript	missense_variant	500/3700	368/2013	123/670	E/V	gAg/gTg		1		1	TRAF7	HGNC	HGNC:20456	protein_coding	YES	CCDS10461.1	ENSP00000318944	Q6Q0C0		UPI000014186F	NM_032271.2	deleterious(0.02)		6/21		hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF165																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	2171283	2171283	A	T	1	0	0	0	0	1	0	0	0	16929	304	11	4		4	TRAF7	16	2171283	Missense_Mutation	SNP	A	C3N-00545_TP		2171283	88167062	270	15215											
ZNF500	0	.	GRCh38	chr16	4752674	4752674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttcccacactcggggcacGggtagggcttctcgcctgtg	4	9	14	14	3	1	0	0	0	1	0	4	0	2	0	2	4	0	4	2	4	1	3	rs143815276		C3N-00545_TP	C3N-00545_NB	G	G																c.1145C>T	p.Pro382Leu	p.P382L	ENST00000219478	6/6	388	361	27	221	221	0	strelka-varscan-mutect	ZNF500,missense_variant,p.Pro382Leu,ENST00000219478,NM_021646.2;ZNF500,missense_variant,p.Pro382Leu,ENST00000545009,NM_001303450.1;C16orf71,downstream_gene_variant,,ENST00000299320,NM_139170.2;C16orf71,downstream_gene_variant,,ENST00000590191,;ZNF500,downstream_gene_variant,,ENST00000592425,;ZNF500,upstream_gene_variant,,ENST00000588942,;Metazoa_SRP,upstream_gene_variant,,ENST00000622471,;ZNF500,non_coding_transcript_exon_variant,,ENST00000591026,;RP11-127I20.7,upstream_gene_variant,,ENST00000588099,;ZNF500,3_prime_UTR_variant,,ENST00000589422,;C16orf71,downstream_gene_variant,,ENST00000586256,;	A	ENST00000219478	Transcript	missense_variant	1445/5880	1145/1443	382/480	P/L	cCg/cTg	rs143815276,COSM4060878	1		-1	ZNF500	HGNC	HGNC:23716	protein_coding	YES	CCDS32383.1	ENSP00000219478	O60304		UPI00001C1FB0	NM_021646.2	tolerated(0.21)		6/6		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF74,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1						MODERATE		SNV	2		0,1	1										PASS		rs143815276	.												A	3	1	48	4752674	4752674	G	A	1	0	0	0	0	1	0	0	0	18520	1116	39	1		1	ZNF500	16	4752674	Missense_Mutation	SNP	G	C3N-00545_TP	2581391	4752674	85585671	271	15216											
CIITA	0	.	GRCh38	chr16	10907664	10907664	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccctgtggctggctctGagtggcgaaatcaaggacaa	9	7	16	9	1	2	1	1	1	1	0	2	3	2	2	1	6	0	2	1	6	3	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.2175G>T	p.=	p.L725L	ENST00000618327	11/20	794	704	90	534	534	0	strelka-varscan-mutect	CIITA,synonymous_variant,p.=,ENST00000324288,NM_000246.3;CIITA,synonymous_variant,p.=,ENST00000618327,NM_001286402.1;CIITA,intron_variant,,ENST00000618207,;CIITA,intron_variant,,ENST00000381835,NM_001286403.1;CIITA,intron_variant,,ENST00000537380,;CIITA,non_coding_transcript_exon_variant,,ENST00000570546,;CIITA,non_coding_transcript_exon_variant,,ENST00000573309,;CIITA,downstream_gene_variant,,ENST00000571186,;	T	ENST00000618327	Transcript	synonymous_variant	2308/4657	2175/3396	725/1131	L	ctG/ctT		1		1	CIITA	HGNC	HGNC:7067	protein_coding	YES	CCDS73826.1	ENSP00000485010		A0A087X2I7	UPI0003C0C509	NM_001286402.1			11/20		PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF104																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	48	10907664	10907664	G	T	1	0	0	0	0	0	0	0	1	3190	1277	45	2		2	CIITA	16	10907664	Silent	SNP	G	C3N-00545_TP	6154990	10907664	79430681	272	15217											
DNAH3	0	.	GRCh38	chr16	21112005	21112005	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctaccgtcacaaaatcAtcaatgtcatgattttcttt	11	17	3	10	1	5	1	4	1	1	0	6	1	6	1	2	0	1	0	2	0	4	5	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.1908T>A	p.Asp636Glu	p.D636E	ENST00000261383	13/62	230	215	15	78	78	0	strelka-varscan-mutect	DNAH3,missense_variant,p.Asp636Glu,ENST00000261383,NM_017539.2;DNAH3,non_coding_transcript_exon_variant,,ENST00000396036,;	T	ENST00000261383	Transcript	missense_variant	1908/12394	1908/12351	636/4116	D/E	gaT/gaA		1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2	tolerated(1)		13/62		hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	21112005	21112005	A	T	1	0	0	0	0	1	0	0	0	4418	214	8	4		4	DNAH3	16	21112005	Missense_Mutation	SNP	A	C3N-00545_TP	10204341	21112005	69226340	273	15218											
PRKCB	0	.	GRCh38	chr16	24185140	24185140	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagccctatgggaagtcCgtggattggtgggcatttgg	7	12	15	7	1	1	0	1	0	0	0	2	2	2	2	2	5	1	1	2	5	3	4			C3N-00545_TP	C3N-00545_NB	C	C																c.1563C>A	p.=	p.S521S	ENST00000303531	14/17	366	337	29	183	183	0	strelka-varscan-mutect	PRKCB,synonymous_variant,p.=,ENST00000303531,NM_002738.6;PRKCB,synonymous_variant,p.=,ENST00000321728,NM_212535.2;PRKCB,downstream_gene_variant,,ENST00000472066,;PRKCB,upstream_gene_variant,,ENST00000466124,;PRKCB,non_coding_transcript_exon_variant,,ENST00000487674,;	A	ENST00000303531	Transcript	synonymous_variant	1715/7969	1563/2022	521/673	S	tcC/tcA	COSM1493568,COSM1493569,COSM1493570	1		1	PRKCB	HGNC	HGNC:9395	protein_coding	YES	CCDS10619.1	ENSP00000305355	P05771		UPI000002ACF9	NM_002738.6			14/17		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000550,PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF188,SMART_domains:SM00220,Superfamily_domains:SSF56112											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		rs1002872729	.												A	2	1	48	24185140	24185140	C	A	1	0	0	0	0	0	0	0	1	12641	639	23	1		1	PRKCB	16	24185140	Silent	SNP	C	C3N-00545_TP	3073135	24185140	66153205	274	15219											
ITGAD	0	.	GRCh38	chr16	31414956	31414956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagaacctgcgtcctgtgCtggccgtgggctcacaagac	7	7	12	15	2	1	2	1	0	0	2	2	2	2	2	4	2	3	2	4	2	2	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.2248C>A	p.Leu750Met	p.L750M	ENST00000389202	18/30	351	317	34	167	167	0	strelka-varscan-mutect	ITGAD,missense_variant,p.Leu750Met,ENST00000389202,NM_001318185.1,NM_005353.2;	A	ENST00000389202	Transcript	missense_variant	2297/3912	2248/3486	750/1161	L/M	Ctg/Atg		1		1	ITGAD	HGNC	HGNC:6146	protein_coding	YES	CCDS32438.1	ENSP00000373854	Q13349		UPI000004B27A	NM_001318185.1,NM_005353.2	deleterious(0.01)		18/30		Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	31414956	31414956	C	A	1	0	0	0	0	1	0	0	0	7791	796	28	2		2	ITGAD	16	31414956	Missense_Mutation	SNP	C	C3N-00545_TP	7229816	31414956	58923389	275	15220											
CNGB1	0	.	GRCh38	chr16	57939434	57939434	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccacacctacctccTgaactggcagcctcggcctc	8	6	6	21	1	0	1	0	1	0	0	3	1	1	1	8	2	3	1	8	2	2	1	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.1368A>T	p.=	p.S456S	ENST00000251102	16/33	788	720	68	548	548	0	strelka-varscan-mutect	CNGB1,synonymous_variant,p.=,ENST00000251102,NM_001297.4;CNGB1,synonymous_variant,p.=,ENST00000564448,NM_001286130.1;CNGB1,non_coding_transcript_exon_variant,,ENST00000564654,;CNGB1,non_coding_transcript_exon_variant,,ENST00000564450,;	A	ENST00000251102	Transcript	synonymous_variant	1429/5641	1368/3756	456/1251	S	tcA/tcT		1		-1	CNGB1	HGNC	HGNC:2151	protein_coding	YES	CCDS42169.1	ENSP00000251102	Q14028		UPI000013CCDF	NM_001297.4			16/33		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF386																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	48	57939434	57939434	T	A	1	0	0	0	0	0	0	0	1	3380	1594	55	4		4	CNGB1	16	57939434	Silent	SNP	T	C3N-00545_TP	26524478	57939434	32398911	276	15221											
CNGB1	0	.	GRCh38	chr16	57962564	57962564	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactcagggatagggactcaCctagtgtcttgggcctcaag	9	9	12	11	0	4	0	3	0	1	0	4	2	4	2	2	3	0	0	2	3	3	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.458+1G>T		p.X153_splice	ENST00000251102		524	474	50	341	339	2	strelka-varscan-mutect	CNGB1,splice_donor_variant,,ENST00000251102,NM_001297.4;CNGB1,splice_donor_variant,,ENST00000564448,NM_001286130.1;CNGB1,splice_donor_variant,,ENST00000311183,NM_001135639.1;CNGB1,splice_donor_variant,,ENST00000562761,;CNGB1,downstream_gene_variant,,ENST00000567568,;	A	ENST00000251102	Transcript	splice_donor_variant	-/5641	458/3756	153/1251				1		-1	CNGB1	HGNC	HGNC:2151	protein_coding	YES	CCDS42169.1	ENSP00000251102	Q14028		UPI000013CCDF	NM_001297.4				7/32																		HIGH	1	SNV	1			1										PASS		rs1445887025	.												A	5	1	48	57962564	57962564	C	A	1	0	0	0	0	0	0	1	0	3380	521	18	2		2	CNGB1	16	57962564	Splice_Site	SNP	C	C3N-00545_TP	23130	57962564	32375781	277	15222											
CDH16	0	.	GRCh38	chr16	66912068	66912068	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctccagggcctgggcctgGccccaccagcttcgccacac	5	5	12	19	1	0	0	0	0	0	0	2	0	1	0	7	4	1	2	7	4	0	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1621C>G	p.Pro541Ala	p.P541A	ENST00000299752	13/18	331	288	43	147	147	0	strelka-varscan-mutect	CDH16,missense_variant,p.Pro541Ala,ENST00000299752,NM_004062.3;CDH16,missense_variant,p.Pro541Ala,ENST00000394055,NM_001204744.1;CDH16,missense_variant,p.Pro541Ala,ENST00000565796,NM_001204745.1;CDH16,missense_variant,p.Pro461Ala,ENST00000570262,;CDH16,missense_variant,p.Pro444Ala,ENST00000568632,NM_001204746.1;CDH16,downstream_gene_variant,,ENST00000567009,;CDH16,downstream_gene_variant,,ENST00000565235,;CDH16,3_prime_UTR_variant,,ENST00000567269,;CDH16,3_prime_UTR_variant,,ENST00000568698,;	C	ENST00000299752	Transcript	missense_variant	1815/2954	1621/2490	541/829	P/A	Cca/Gca		1		-1	CDH16	HGNC	HGNC:1755	protein_coding	YES	CCDS10823.1	ENSP00000299752	O75309		UPI0000126DB1	NM_004062.3	tolerated(0.23)		13/18		Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF1,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	48	66912068	66912068	G	C	1	0	0	0	0	1	0	0	0	2804	1203	42	4		4	CDH16	16	66912068	Missense_Mutation	SNP	G	C3N-00545_TP	8949504	66912068	23426277	278	15223											
CES3	0	.	GRCh38	chr16	66964399	66964399	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaccagggcttcctagaTgtggtagctgctttgcgctg	6	11	14	10	1	0	1	0	0	0	1	1	1	1	1	2	3	4	6	2	3	3	4	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.603T>A	p.Asp201Glu	p.D201E	ENST00000303334	5/13	300	273	27	168	168	0	strelka-varscan-mutect	CES3,missense_variant,p.Asp201Glu,ENST00000303334,NM_024922.5;CES3,missense_variant,p.Asp201Glu,ENST00000394037,NM_001185177.1;CES3,upstream_gene_variant,,ENST00000543856,NM_001185176.1;RP11-361L15.4,downstream_gene_variant,,ENST00000566869,;CES3,missense_variant,p.Asp201Glu,ENST00000570236,;CES3,3_prime_UTR_variant,,ENST00000566453,;CES3,upstream_gene_variant,,ENST00000564715,;CES3,downstream_gene_variant,,ENST00000566746,;CES3,downstream_gene_variant,,ENST00000568118,;	A	ENST00000303334	Transcript	missense_variant	674/3834	603/1716	201/571	D/E	gaT/gaA		1		1	CES3	HGNC	HGNC:1865	protein_coding	YES	CCDS10826.1	ENSP00000304782	Q6UWW8		UPI0000047824	NM_024922.5	deleterious(0)		5/13		hmmpanther:PTHR11559:SF259,hmmpanther:PTHR11559,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	66964399	66964399	T	A	1	0	0	0	0	1	0	0	0	3003	1461	51	4		4	CES3	16	66964399	Missense_Mutation	SNP	T	C3N-00545_TP	52331	66964399	23373946	279	15224											
FUK	0	.	GRCh38	chr16	70465054	70465054	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgttggagtctctctcTggattcgagggtgccatcct	4	16	12	9	1	2	0	0	0	2	0	6	3	3	2	2	3	1	1	2	3	0	3	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.259T>G	p.Trp87Gly	p.W87G	ENST00000378912	4/24	219	191	28	182	182	0	strelka-varscan-mutect	FUK,missense_variant,p.Trp87Gly,ENST00000378912,;FUK,intron_variant,,ENST00000288078,NM_145059.2;FUK,intron_variant,,ENST00000571514,;FUK,intron_variant,,ENST00000574784,;FUK,intron_variant,,ENST00000573352,;FUK,intron_variant,,ENST00000576453,;FUK,intron_variant,,ENST00000572784,;FUK,intron_variant,,ENST00000464499,;FUK,intron_variant,,ENST00000571487,;FUK,intron_variant,,ENST00000576107,;	G	ENST00000378912	Transcript	missense_variant	317/3925	259/3273	87/1090	W/G	Tgg/Ggg		1		1	FUK	HGNC	HGNC:29500	protein_coding			ENSP00000368192	Q8N0W3		UPI00001C0FD1		deleterious_low_confidence(0)		4/24																			MODERATE		SNV	2			1										PASS		.	.												G	3	3	48	70465054	70465054	T	G	1	0	0	0	0	1	0	0	0	5967	1580	55	5		5	FUK	16	70465054	Missense_Mutation	SNP	T	C3N-00545_TP	3500655	70465054	19873291	280	15225											
PHLPP2	0	.	GRCh38	chr16	71714760	71714760	+	Missense_Mutation	SNP	C	C	A																															cgagaaccaaacctacttctCctattcaaacaatttctgct																								novel		C3N-00545_TP	C3N-00545_NB	C	C																c.36G>T	p.Arg12Ser	p.R12S	ENST00000568954	2/19	231	207	24	120	120	0	strelka-varscan-mutect	PHLPP2,missense_variant,p.Arg12Ser,ENST00000393524,NM_001289003.1;PHLPP2,missense_variant,p.Arg12Ser,ENST00000568954,NM_015020.3;PHLPP2,missense_variant,p.Arg47Ser,ENST00000567016,;PHLPP2,non_coding_transcript_exon_variant,,ENST00000538126,;	A	ENST00000568954	Transcript	missense_variant	415/8317	36/3972	12/1323	R/S	agG/agT		1		-1	PHLPP2	HGNC	HGNC:29149	protein_coding	YES	CCDS32479.1	ENSP00000457991	Q6ZVD8		UPI0000229F5A	NM_015020.3	deleterious_low_confidence(0.04)		2/19																			MODERATE	1	SNV	1			1										PASS		rs1298730459	.												A	3	1	48	71714760	71714760	C	A	1	0	0	0	0	1	0	0	0	11943	854	30	2		2	PHLPP2	16	71714760	Missense_Mutation	SNP	C	C3N-00545_TP	1249706	71714760	18623585	281	15226	326	2									
PHLPP2	0	.	GRCh38	chr16	71714761	71714761	+	Missense_Mutation	SNP	C	C	A																															gagaaccaaacctacttctcCtattcaaacaatttctgctc																								novel		C3N-00545_TP	C3N-00545_NB	C	C																c.35G>T	p.Arg12Met	p.R12M	ENST00000568954	2/19	232	205	27	119	119	0	strelka-varscan-mutect	PHLPP2,missense_variant,p.Arg12Met,ENST00000393524,NM_001289003.1;PHLPP2,missense_variant,p.Arg12Met,ENST00000568954,NM_015020.3;PHLPP2,missense_variant,p.Arg47Met,ENST00000567016,;PHLPP2,non_coding_transcript_exon_variant,,ENST00000538126,;	A	ENST00000568954	Transcript	missense_variant	414/8317	35/3972	12/1323	R/M	aGg/aTg		1		-1	PHLPP2	HGNC	HGNC:29149	protein_coding	YES	CCDS32479.1	ENSP00000457991	Q6ZVD8		UPI0000229F5A	NM_015020.3	deleterious_low_confidence(0)		2/19																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	71714761	71714761	C	A	1	0	0	0	0	1	0	0	0	11943	681	24	2		2	PHLPP2	16	71714761	Missense_Mutation	SNP	C	C3N-00545_TP	1	71714761	18623584	282	15227	326	2									
PRPF8	0	.	GRCh38	chr17	1655486	1655486	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctggcttcaggatcacttTtgcccgatcgttgttcacat	6	15	9	11	2	4	0	3	0	1	0	5	2	4	1	1	2	1	3	1	2	0	5	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.5851A>G	p.Lys1951Glu	p.K1951E	ENST00000572621	36/42	647	584	63	388	388	0	strelka-varscan-mutect	PRPF8,missense_variant,p.Lys1951Glu,ENST00000572621,;PRPF8,missense_variant,p.Lys1951Glu,ENST00000304992,NM_006445.3;PRPF8,downstream_gene_variant,,ENST00000573725,;PRPF8,upstream_gene_variant,,ENST00000571958,;PRPF8,upstream_gene_variant,,ENST00000575116,;PRPF8,upstream_gene_variant,,ENST00000576585,;PRPF8,downstream_gene_variant,,ENST00000573681,;PRPF8,upstream_gene_variant,,ENST00000572723,;	C	ENST00000572621	Transcript	missense_variant	6117/7445	5851/7008	1951/2335	K/E	Aaa/Gaa		1		-1	PRPF8	HGNC	HGNC:17340	protein_coding	YES	CCDS11010.1	ENSP00000460348	Q6P2Q9		UPI000006F2DD		deleterious(0.01)		36/42		hmmpanther:PTHR11140,hmmpanther:PTHR11140:SF0,Pfam_domain:PF12134,Superfamily_domains:SSF53098																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	48	1655486	1655486	T	C	1	0	0	0	0	1	0	0	0	12711	1850	64	5		5	PRPF8	17	1655486	Missense_Mutation	SNP	T	C3N-00545_TP		1655486	81601955	283	15228											
TP53	0	.	GRCh38	chr17	7676040	7676040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgcaagaagcccagaCggaaaccgtagctgccctgg	13	4	12	12	2	0	3	0	0	0	3	0	4	0	4	3	2	5	3	3	2	5	1	rs11540654		C3N-00545_TP	C3N-00545_NB	C	C																c.329G>T	p.Arg110Leu	p.R110L	ENST00000269305	4/11	279	258	21	207	207	0	strelka-varscan-mutect	TP53,missense_variant,p.Arg110Leu,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Arg110Leu,ENST00000420246,;TP53,missense_variant,p.Arg71Leu,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Arg71Leu,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg110Leu,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Arg71Leu,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Arg110Leu,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Arg71Leu,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Arg110Leu,ENST00000445888,;TP53,missense_variant,p.Arg71Leu,ENST00000619485,;TP53,missense_variant,p.Arg110Leu,ENST00000359597,;TP53,missense_variant,p.Arg110Leu,ENST00000615910,;TP53,missense_variant,p.Arg110Leu,ENST00000413465,;TP53,missense_variant,p.Arg110Leu,ENST00000508793,;TP53,missense_variant,p.Arg110Leu,ENST00000604348,;TP53,missense_variant,p.Arg110Leu,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000510385,NM_001126116.1;TP53,upstream_gene_variant,,ENST00000618944,NM_001276698.1;TP53,upstream_gene_variant,,ENST00000504290,NM_001126117.1;TP53,upstream_gene_variant,,ENST00000610623,NM_001276699.1;TP53,upstream_gene_variant,,ENST00000504937,NM_001126115.1;TP53,upstream_gene_variant,,ENST00000619186,NM_001276697.1;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Arg71Leu,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	519/2579	329/1182	110/393	R/L	cGt/cTt	rs11540654,CM115383,CM984590,TP53_g.11560G>A,TP53_g.11560G>T,TP53_g.11560del,TP53_g.11560G>C,COSM10716,COSM11250,COSM1166752,COSM1166753,COSM1646883,COSM2745016,COSM2745017,COSM2745018,COSM3388234,COSM3723935,COSM43805,COSM46115,COSM99928,COSM99929	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0.04)		4/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417										uncertain_significance,not_provided	0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1879830625105660					MODERATE	1	SNV	1		1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs11540654	.												A	3	1	48	7676040	7676040	C	A	1	0	0	0	0	1	0	0	0	16859	550	19	1		1	TP53	17	7676040	Missense_Mutation	SNP	C	C3N-00545_TP	6020554	7676040	75581401	284	15229											
PER1	0	.	GRCh38	chr17	8150670	8150670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgattccccaggcctggggtCccctcccccatcagcccctt	4	9	8	20	0	1	1	1	1	0	0	4	1	4	1	9	3	1	0	9	3	0	2	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.37G>T	p.Asp13Tyr	p.D13Y	ENST00000317276	2/23	60	54	6	43	43	0	strelka-varscan-mutect	PER1,missense_variant,p.Asp13Tyr,ENST00000317276,NM_002616.2;PER1,missense_variant,p.Asp13Tyr,ENST00000581082,;PER1,missense_variant,p.Asp13Tyr,ENST00000577253,;PER1,missense_variant,p.Asp13Tyr,ENST00000584202,;PER1,intron_variant,,ENST00000354903,;PER1,intron_variant,,ENST00000581703,;PER1,upstream_gene_variant,,ENST00000583559,;RP11-599B13.6,downstream_gene_variant,,ENST00000498285,;PER1,upstream_gene_variant,,ENST00000578089,;PER1,missense_variant,p.Asp13Tyr,ENST00000582719,;PER1,missense_variant,p.Asp13Tyr,ENST00000581395,;PER1,non_coding_transcript_exon_variant,,ENST00000579065,;PER1,upstream_gene_variant,,ENST00000578223,;PER1,upstream_gene_variant,,ENST00000585095,;PER1,upstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000579203,;	A	ENST00000317276	Transcript	missense_variant	275/4707	37/3873	13/1290	D/Y	Gac/Tac		1		-1	PER1	HGNC	HGNC:8845	protein_coding	YES	CCDS11131.1	ENSP00000314420	O15534		UPI000013FFF5	NM_002616.2	deleterious_low_confidence(0.01)		2/23		hmmpanther:PTHR11269:SF8,hmmpanther:PTHR11269																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	8150670	8150670	C	A	1	0	0	0	0	1	0	0	0	11817	855	30	2		2	PER1	17	8150670	Missense_Mutation	SNP	C	C3N-00545_TP	474630	8150670	75106771	285	15230											
MYH10	0	.	GRCh38	chr17	8546611	8546611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggggagtcaggatggccCgagtaaactccatcacattc	10	8	11	12	2	2	0	2	0	0	0	5	3	4	2	3	4	1	1	3	4	2	2	rs758026785		C3N-00545_TP	C3N-00545_NB	C	C																c.1211G>T	p.Arg404Leu	p.R404L	ENST00000360416	12/43	291	257	34	193	193	0	strelka-varscan-mutect	MYH10,missense_variant,p.Arg404Leu,ENST00000360416,NM_001256012.1;MYH10,missense_variant,p.Arg403Leu,ENST00000379980,NM_001256095.1;MYH10,missense_variant,p.Arg394Leu,ENST00000269243,NM_005964.3;MYH10,downstream_gene_variant,,ENST00000459986,;MYH10,upstream_gene_variant,,ENST00000584124,;	A	ENST00000360416	Transcript	missense_variant	1350/7762	1211/6024	404/2007	R/L	cGg/cTg	rs758026785	1		-1	MYH10	HGNC	HGNC:7568	protein_coding	YES	CCDS58515.1	ENSP00000353590	P35580		UPI0000E24926	NM_001256012.1	deleterious(0)		12/43		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF328,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs758026785	.												A	3	1	48	8546611	8546611	C	A	1	0	0	0	0	1	0	0	0	10030	652	23	1		1	MYH10	17	8546611	Missense_Mutation	SNP	C	C3N-00545_TP	395941	8546611	74710830	286	15231											
MYH13	0	.	GRCh38	chr17	10301572	10301572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggtacctgctcttacctgGctgcccacgtctcggctctt	4	12	9	16	2	3	0	0	0	3	0	4	0	3	0	3	3	4	4	3	3	2	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.5799C>A	p.Ser1933Arg	p.S1933R	ENST00000418404	39/41	222	204	18	133	133	0	strelka-varscan-mutect	MYH13,missense_variant,p.Ser1933Arg,ENST00000418404,;MYH13,missense_variant,p.Ser1933Arg,ENST00000252172,NM_003802.2;MYH13,missense_variant,p.Ser1933Arg,ENST00000621918,;RP11-401O9.4,intron_variant,,ENST00000609088,;	T	ENST00000418404	Transcript	missense_variant	5963/6296	5799/5817	1933/1938	S/R	agC/agA		1		-1	MYH13	HGNC	HGNC:7571	protein_coding	YES	CCDS45613.1	ENSP00000404570	Q9UKX3		UPI0000DB39EA		tolerated_low_confidence(0.12)		39/41		Superfamily_domains:SSF57997																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	48	10301572	10301572	G	T	1	0	0	0	0	1	0	0	0	10032	1217	42	2		2	MYH13	17	10301572	Missense_Mutation	SNP	G	C3N-00545_TP	1754961	10301572	72955869	287	15232											
DNAH9	0	.	GRCh38	chr17	11644650	11644650	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgcatggaatctgcagaaGgaaagcgaatgcaacaaaaa	18	6	11	6	1	1	1	0	0	1	1	1	4	1	3	0	2	5	4	0	2	7	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1921G>C	p.Gly641Arg	p.G641R	ENST00000262442	11/69	227	208	19	119	119	0	strelka-varscan-mutect	DNAH9,missense_variant,p.Gly641Arg,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Gly641Arg,ENST00000454412,;	C	ENST00000262442	Transcript	missense_variant	1989/13750	1921/13461	641/4486	G/R	Gga/Cga		1		1	DNAH9	HGNC	HGNC:2953	protein_coding	YES	CCDS11160.1	ENSP00000262442	Q9NYC9		UPI0000141BA2	NM_001372.3	tolerated(0.08)		11/69		Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	48	11644650	11644650	G	C	1	0	0	0	0	1	0	0	0	4423	1001	35	4		4	DNAH9	17	11644650	Missense_Mutation	SNP	G	C3N-00545_TP	1343078	11644650	71612791	288	15233											
MYOCD	0	.	GRCh38	chr17	12760668	12760668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaaatgacccggagtcagCagatggatgaactcctggac	13	6	12	10	1	1	3	1	2	0	1	2	6	2	6	2	3	3	2	2	3	2	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.2350C>A	p.Gln784Lys	p.Q784K	ENST00000425538	13/14	321	298	23	206	205	1	strelka-varscan-mutect	MYOCD,missense_variant,p.Gln784Lys,ENST00000425538,NM_001146312.2;MYOCD,missense_variant,p.Gln446Lys,ENST00000443061,;MYOCD,missense_variant,p.Gln736Lys,ENST00000343344,NM_153604.3;RP11-1090M7.1,non_coding_transcript_exon_variant,,ENST00000584772,;MYOCD,downstream_gene_variant,,ENST00000395988,;	A	ENST00000425538	Transcript	missense_variant	2550/8466	2350/2961	784/986	Q/K	Cag/Aag		1		1	MYOCD	HGNC	HGNC:16067	protein_coding	YES	CCDS54091.1	ENSP00000401678	Q8IZQ8		UPI000022A2E2	NM_001146312.2	deleterious(0)		13/14		hmmpanther:PTHR22793:SF11,hmmpanther:PTHR22793																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	12760668	12760668	C	A	1	0	0	0	0	1	0	0	0	10088	711	25	2		2	MYOCD	17	12760668	Missense_Mutation	SNP	C	C3N-00545_TP	1116018	12760668	70496773	289	15234											
HS3ST3B1	0	.	GRCh38	chr17	14345419	14345419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgcgtgcaagacttcctgGgcctcaagaggatcatcacg	9	7	12	13	3	3	2	3	0	0	2	4	3	4	3	3	2	1	1	3	2	2	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.946G>T	p.Gly316Cys	p.G316C	ENST00000360954	2/2	80	71	9	65	65	0	varscan-mutect	HS3ST3B1,missense_variant,p.Gly316Cys,ENST00000360954,NM_006041.2;HS3ST3B1,missense_variant,p.Gly316Cys,ENST00000466596,;	T	ENST00000360954	Transcript	missense_variant	1382/5367	946/1173	316/390	G/C	Ggc/Tgc		1		1	HS3ST3B1	HGNC	HGNC:5198	protein_coding	YES	CCDS11167.1	ENSP00000354213	Q9Y662		UPI0000038167	NM_006041.2	deleterious(0)		2/2		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF7,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1441793157	.												T	3	4	48	14345419	14345419	G	T	1	0	0	0	0	1	0	0	0	7260	1232	43	2		2	HS3ST3B1	17	14345419	Missense_Mutation	SNP	G	C3N-00545_TP	1584751	14345419	68912022	290	15235											
NF1	0	.	GRCh38	chr17	31336886	31336886	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaatatcattcactctctGtgtacttgttcacagcttca	10	17	4	10	0	5	0	4	0	1	0	6	0	5	0	0	0	2	3	0	0	3	7	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.6399G>T	p.=	p.L2133L	ENST00000358273	42/58	173	157	16	86	86	0	strelka-varscan-mutect	NF1,synonymous_variant,p.=,ENST00000358273,NM_001042492.2;NF1,synonymous_variant,p.=,ENST00000356175,NM_000267.3;NF1,synonymous_variant,p.=,ENST00000456735,;NF1,downstream_gene_variant,,ENST00000581113,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,downstream_gene_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000471572,;NF1,upstream_gene_variant,,ENST00000581790,;NF1,downstream_gene_variant,,ENST00000479536,;NF1,upstream_gene_variant,,ENST00000584328,;NF1,upstream_gene_variant,,ENST00000582892,;	T	ENST00000358273	Transcript	synonymous_variant	6782/12425	6399/8520	2133/2839	L	ctG/ctT		1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2			42/58		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF90																	LOW	1	SNV	1			1										PASS		rs1448544243	.												T	2	4	48	31336886	31336886	G	T	1	0	0	0	0	0	0	0	1	10393	1364	48	2		2	NF1	17	31336886	Silent	SNP	G	C3N-00545_TP	16991467	31336886	51920555	291	15236											
CACNB1	0	.	GRCh38	chr17	39175267	39175267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaactggacccccaccctCagcgcagtagcgggccttat	10	6	9	16	2	1	0	1	0	0	0	1	1	1	1	4	2	3	2	4	2	4	2			C3N-00545_TP	C3N-00545_NB	C	C																c.1723G>C	p.Glu575Gln	p.E575Q	ENST00000394303	14/14	332	302	30	212	212	0	strelka-varscan-mutect	CACNB1,missense_variant,p.Glu575Gln,ENST00000394303,NM_000723.4;CACNB1,3_prime_UTR_variant,,ENST00000622445,;CACNB1,downstream_gene_variant,,ENST00000344140,NM_199247.2;CACNB1,downstream_gene_variant,,ENST00000394310,NM_199248.2;RP5-906A24.2,intron_variant,,ENST00000579256,;CACNB1,non_coding_transcript_exon_variant,,ENST00000539338,;CACNB1,downstream_gene_variant,,ENST00000582544,;	G	ENST00000394303	Transcript	missense_variant	1931/3742	1723/1797	575/598	E/Q	Gag/Cag	COSM5692603	1		-1	CACNB1	HGNC	HGNC:1401	protein_coding	YES	CCDS42311.1	ENSP00000377840	Q02641		UPI0000127290	NM_000723.4	tolerated_low_confidence(0.11)		14/14		hmmpanther:PTHR11824,hmmpanther:PTHR11824:SF6											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	48	39175267	39175267	C	G	1	0	0	0	0	1	0	0	0	2240	835	29	4		4	CACNB1	17	39175267	Missense_Mutation	SNP	C	C3N-00545_TP	7838381	39175267	44082174	292	15237											
KRTAP4-8	0	.	GRCh38	chr17	41097559	41097559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcgcagcacacggggcGggggcaggtggagatgacac	9	2	21	9	3	0	2	0	1	0	1	0	4	0	3	0	8	1	3	0	8	0	0	rs538107149		C3N-00545_TP	C3N-00545_NB	G	G																c.526C>A	p.Arg176Ser	p.R176S	ENST00000333822	1/1	194	180	14	136	136	0	varscan-mutect	KRTAP4-8,missense_variant,p.Arg176Ser,ENST00000333822,NM_031960.2;KRTAP4-8,missense_variant,p.Arg146Ser,ENST00000318329,;KRTAP4-7,intron_variant,,ENST00000612231,;KRTAP4-16,downstream_gene_variant,,ENST00000440582,;	T	ENST00000333822	Transcript	missense_variant	583/1161	526/558	176/185	R/S	Cgc/Agc	rs538107149	1		-1	KRTAP4-8	HGNC	HGNC:17230	protein_coding	YES	CCDS45674.1	ENSP00000328444	Q9BYQ9		UPI0000366BFD	NM_031960.2	deleterious(0.01)		1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF67																	MODERATE	1	SNV				1										PASS		rs538107149	.												T	3	4	48	41097559	41097559	G	T	1	0	0	0	0	1	0	0	0	8451	1116	39	1		1	KRTAP4-8	17	41097559	Missense_Mutation	SNP	G	C3N-00545_TP	1922292	41097559	42159882	293	15238											
KRT37	0	.	GRCh38	chr17	41422874	41422874	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtcgcgtcatccaggagCttctgcgtcccgcacttgtc	5	10	12	14	4	2	0	1	0	1	0	6	1	4	1	2	2	2	2	2	2	0	2	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.636G>A	p.=	p.K212K	ENST00000225550	3/7	265	247	18	153	153	0	varscan-mutect	KRT37,synonymous_variant,p.=,ENST00000225550,NM_003770.4;AC003958.2,intron_variant,,ENST00000432258,;	T	ENST00000225550	Transcript	synonymous_variant	636/1475	636/1350	212/449	K	aaG/aaA		1		-1	KRT37	HGNC	HGNC:6455	protein_coding	YES	CCDS32653.1	ENSP00000225550	O76014		UPI000000DC9A	NM_003770.4			3/7		Pfam_domain:PF00038,Prints_domain:PR01248,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF197,SMART_domains:SM01391																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	41422874	41422874	C	T	1	0	0	0	0	0	0	0	1	8356	796	28	3		3	KRT37	17	41422874	Silent	SNP	C	C3N-00545_TP	325315	41422874	41834567	294	15239											
HOXB7	0	.	GRCh38	chr17	48607903	48607903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggtggtccccgggcccgcgGtcttgttctcctttttccac	1	13	11	16	4	2	0	0	0	2	0	5	0	4	0	5	4	0	1	5	4	0	4	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.593C>A	p.Thr198Asn	p.T198N	ENST00000239165	2/2	448	417	31	239	239	0	strelka-varscan-mutect	HOXB7,missense_variant,p.Thr198Asn,ENST00000239165,NM_004502.3;HOXB6,upstream_gene_variant,,ENST00000484302,;HOXB8,downstream_gene_variant,,ENST00000239144,NM_024016.3;HOXB6,upstream_gene_variant,,ENST00000225648,NM_018952.4;HOXB8,downstream_gene_variant,,ENST00000498634,;HOXB-AS3,downstream_gene_variant,,ENST00000466037,;HOXB-AS3,downstream_gene_variant,,ENST00000467155,;HOXB-AS3,downstream_gene_variant,,ENST00000491264,;HOXB-AS3,downstream_gene_variant,,ENST00000494420,;HOXB-AS3,downstream_gene_variant,,ENST00000487849,;HOXB7,non_coding_transcript_exon_variant,,ENST00000567101,;HOXB7,non_coding_transcript_exon_variant,,ENST00000467314,;HOXB6,upstream_gene_variant,,ENST00000490419,;HOXB3,upstream_gene_variant,,ENST00000552000,;	T	ENST00000239165	Transcript	missense_variant	695/1371	593/654	198/217	T/N	aCc/aAc		1		-1	HOXB7	HGNC	HGNC:5118	protein_coding	YES	CCDS11532.1	ENSP00000239165	P09629		UPI00001AE6AD	NM_004502.3	tolerated(0.21)		2/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF253,SMART_domains:SM00389																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	48607903	48607903	G	T	1	0	0	0	0	1	0	0	0	7200	1261	44	2		2	HOXB7	17	48607903	Missense_Mutation	SNP	G	C3N-00545_TP	7185029	48607903	34649538	295	15240											
SCN4A	0	.	GRCh38	chr17	63957390	63957390	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacagctgcatgcccacCacggcgaagatgaacacgat	14	4	9	14	3	0	2	0	1	0	1	0	4	0	2	3	1	5	2	3	1	3	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.2148G>T	p.=	p.V716V	ENST00000435607	13/24	699	611	88	388	388	0	strelka-varscan-mutect	SCN4A,synonymous_variant,p.=,ENST00000435607,NM_000334.4;SCN4A,synonymous_variant,p.=,ENST00000578147,;SCN4A,downstream_gene_variant,,ENST00000581514,;	A	ENST00000435607	Transcript	synonymous_variant	2225/7805	2148/5511	716/1836	V	gtG/gtT		1		-1	SCN4A	HGNC	HGNC:10591	protein_coding	YES	CCDS45761.1	ENSP00000396320	P35499		UPI0000201254	NM_000334.4			13/24		Low_complexity_(Seg):seg,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF223,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	48	63957390	63957390	C	A	1	0	0	0	0	0	0	0	1	14189	581	21	2		2	SCN4A	17	63957390	Silent	SNP	C	C3N-00545_TP	15349487	63957390	19300051	296	15241											
ERN1	0	.	GRCh38	chr17	64049146	64049146	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaaaagggtggctgccCtcagagattacgtagtaaaa	13	9	11	8	1	1	1	1	0	0	1	1	2	1	1	2	2	3	3	2	2	6	4	rs16947393		C3N-00545_TP	C3N-00545_NB	C	C																c.2310G>T	p.Glu770Asp	p.E770D	ENST00000433197	18/22	135	121	14	91	91	0	strelka-varscan-mutect	ERN1,missense_variant,p.Glu770Asp,ENST00000433197,NM_001433.3;ERN1,downstream_gene_variant,,ENST00000583077,;	A	ENST00000433197	Transcript	missense_variant	2406/7876	2310/2934	770/977	E/D	gaG/gaT	rs16947393	1		-1	ERN1	HGNC	HGNC:3449	protein_coding	YES	CCDS45762.1	ENSP00000401445	O75460		UPI0000201263	NM_001433.3	tolerated(0.48)		18/22		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR13954,hmmpanther:PTHR13954:SF7,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs16947393	.												A	3	1	48	64049146	64049146	C	A	1	0	0	0	0	1	0	0	0	5095	680	24	2		2	ERN1	17	64049146	Missense_Mutation	SNP	C	C3N-00545_TP	91756	64049146	19208295	297	15242											
BTBD17	0	.	GRCh38	chr17	74357304	74357304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgcagctggaacagctGtgccggtgggatcatggggt	6	8	17	10	2	1	0	1	0	0	0	1	2	1	2	2	5	5	3	2	5	1	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.790C>A	p.Gln264Lys	p.Q264K	ENST00000375366	3/3	517	458	59	318	317	1	strelka-varscan-mutect	BTBD17,missense_variant,p.Gln264Lys,ENST00000375366,NM_001080466.1;KIF19,downstream_gene_variant,,ENST00000389916,NM_153209.3;KIF19,downstream_gene_variant,,ENST00000551294,;	T	ENST00000375366	Transcript	missense_variant	917/1805	790/1437	264/478	Q/K	Cag/Aag		1		-1	BTBD17	HGNC	HGNC:33758	protein_coding	YES	CCDS32719.1	ENSP00000364515	A6NE02		UPI00001D7961	NM_001080466.1	deleterious(0.04)		3/3		hmmpanther:PTHR24410:SF12,hmmpanther:PTHR24410,Pfam_domain:PF07707,SMART_domains:SM00875																	MODERATE	1	SNV	2			1										PASS		rs1207330797	.												T	3	4	48	74357304	74357304	G	T	1	0	0	0	0	1	0	0	0	1716	1386	48	2		2	BTBD17	17	74357304	Missense_Mutation	SNP	G	C3N-00545_TP	10308158	74357304	8900137	298	15243											
FDXR	0	.	GRCh38	chr17	74864322	74864322	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcgaagcagcagttccgtCagccgcttcctcgggcgggg	5	8	15	13	5	1	0	1	0	0	0	5	1	3	0	3	3	3	5	3	3	1	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.957G>C	p.=	p.L319L	ENST00000442102	9/12	92	83	9	48	48	0	strelka-varscan-mutect	FDXR,synonymous_variant,p.=,ENST00000442102,NM_001258012.3;FDXR,synonymous_variant,p.=,ENST00000293195,NM_024417.4;FDXR,synonymous_variant,p.=,ENST00000544854,NM_001258016.3;FDXR,synonymous_variant,p.=,ENST00000581530,NM_004110.5;FDXR,synonymous_variant,p.=,ENST00000413947,NM_001258013.3;FDXR,synonymous_variant,p.=,ENST00000582944,NM_001258014.3;FDXR,synonymous_variant,p.=,ENST00000583917,;FDXR,synonymous_variant,p.=,ENST00000420580,NM_001258015.2;GRIN2C,upstream_gene_variant,,ENST00000293190,NM_000835.4;GRIN2C,upstream_gene_variant,,ENST00000347612,NM_001278553.1;FDXR,downstream_gene_variant,,ENST00000581219,;FDXR,downstream_gene_variant,,ENST00000579893,;GRIN2C,upstream_gene_variant,,ENST00000578159,;FDXR,downstream_gene_variant,,ENST00000581969,;FDXR,3_prime_UTR_variant,,ENST00000579482,;FDXR,3_prime_UTR_variant,,ENST00000577509,;FDXR,3_prime_UTR_variant,,ENST00000583881,;FDXR,3_prime_UTR_variant,,ENST00000582710,;FDXR,non_coding_transcript_exon_variant,,ENST00000578473,;GRIN2C,upstream_gene_variant,,ENST00000584176,;GRIN2C,upstream_gene_variant,,ENST00000584496,;FDXR,downstream_gene_variant,,ENST00000577932,;FDXR,downstream_gene_variant,,ENST00000579543,;FDXR,downstream_gene_variant,,ENST00000580492,;	G	ENST00000442102	Transcript	synonymous_variant	1044/1967	957/1605	319/534	L	ctG/ctC		1		-1	FDXR	HGNC	HGNC:3642	protein_coding	YES	CCDS58595.1	ENSP00000416515		A0A0A0MT64	UPI0004620E76	NM_001258012.3			9/12		Gene3D:3.50.50.60,PIRSF_domain:PIRSF000362,hmmpanther:PTHR11938,hmmpanther:PTHR11938:SF91,Low_complexity_(Seg):seg,Superfamily_domains:SSF51905																	LOW		SNV	2			1										PASS		.	.												G	2	3	48	74864322	74864322	C	G	1	0	0	0	0	0	0	0	1	5670	813	29	4		4	FDXR	17	74864322	Silent	SNP	C	C3N-00545_TP	507018	74864322	8393119	299	15244											
USH1G	0	.	GRCh38	chr17	74920045	74920045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctcggccccactccttgGgattggcgtaggtgccctgg	3	9	16	13	2	0	0	0	0	0	0	2	1	1	1	4	6	1	2	4	6	1	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.791C>T	p.Pro264Leu	p.P264L	ENST00000614341	2/3	375	337	38	246	246	0	strelka-varscan-mutect	USH1G,missense_variant,p.Pro264Leu,ENST00000614341,NM_001282489.2,NM_173477.4;OTOP2,upstream_gene_variant,,ENST00000331427,NM_178160.2;OTOP2,upstream_gene_variant,,ENST00000580223,;USH1G,3_prime_UTR_variant,,ENST00000579243,;OTOP2,upstream_gene_variant,,ENST00000584711,;	A	ENST00000614341	Transcript	missense_variant	974/3558	791/1386	264/461	P/L	cCc/cTc		1		-1	USH1G	HGNC	HGNC:16356	protein_coding	YES	CCDS32725.1	ENSP00000480279	Q495M9		UPI00001BC010	NM_001282489.2,NM_173477.4	deleterious(0.01)		2/3		hmmpanther:PTHR24161:SF24,hmmpanther:PTHR24161																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	74920045	74920045	G	A	1	0	0	0	0	1	0	0	0	17569	1232	43	3		3	USH1G	17	74920045	Missense_Mutation	SNP	G	C3N-00545_TP	55723	74920045	8337396	300	15245											
AANAT	0	.	GRCh38	chr17	76468869	76468869	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgagtttcgctgcctcacCccggaggacgctgtcagcgc	6	8	13	14	4	2	1	2	1	0	0	3	3	2	3	3	2	2	3	3	2	0	1	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.258C>A	p.=	p.T86T	ENST00000250615	5/7	439	376	63	296	296	0	strelka-varscan-mutect	AANAT,synonymous_variant,p.=,ENST00000250615,NM_001166579.1;AANAT,synonymous_variant,p.=,ENST00000392492,NM_001088.2;AANAT,synonymous_variant,p.=,ENST00000585649,;RHBDF2,downstream_gene_variant,,ENST00000591885,NM_001005498.3;RHBDF2,downstream_gene_variant,,ENST00000313080,NM_024599.5;RHBDF2,downstream_gene_variant,,ENST00000591860,;AANAT,synonymous_variant,p.=,ENST00000587798,;RHBDF2,downstream_gene_variant,,ENST00000590168,;	A	ENST00000250615	Transcript	synonymous_variant	1265/1913	258/759	86/252	T	acC/acA		1		1	AANAT	HGNC	HGNC:19	protein_coding	YES	CCDS54169.1	ENSP00000250615	Q16613		UPI000153D76E	NM_001166579.1			5/7		PROSITE_profiles:PS51186,hmmpanther:PTHR10908,hmmpanther:PTHR10908:SF2,Gene3D:3.40.630.30,Superfamily_domains:SSF55729																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	48	76468869	76468869	C	A	1	0	0	0	0	0	0	0	1	20	610	22	2		2	AANAT	17	76468869	Silent	SNP	C	C3N-00545_TP	1548824	76468869	6788572	301	15246											
PGS1	0	.	GRCh38	chr17	78404036	78404036	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagcctgggacagcaggAgcgggtccagcttcaggagt	8	6	17	10	1	1	0	1	0	0	0	2	3	2	3	2	4	5	3	2	4	0	1	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.1349A>T	p.Glu450Val	p.E450V	ENST00000262764	7/10	138	117	21	86	86	0	strelka-varscan-mutect	PGS1,missense_variant,p.Glu450Val,ENST00000262764,NM_024419.4;PGS1,missense_variant,p.Ser25Cys,ENST00000586355,;PGS1,missense_variant,p.Glu68Val,ENST00000586019,;PGS1,downstream_gene_variant,,ENST00000589689,;PGS1,downstream_gene_variant,,ENST00000592043,;PGS1,downstream_gene_variant,,ENST00000587356,;SNORA30,downstream_gene_variant,,ENST00000363193,;PGS1,non_coding_transcript_exon_variant,,ENST00000588281,;PGS1,non_coding_transcript_exon_variant,,ENST00000585521,;PGS1,missense_variant,p.Glu424Val,ENST00000589426,;PGS1,3_prime_UTR_variant,,ENST00000589425,;PGS1,3_prime_UTR_variant,,ENST00000588169,;PGS1,non_coding_transcript_exon_variant,,ENST00000591996,;	T	ENST00000262764	Transcript	missense_variant	1375/2201	1349/1671	450/556	E/V	gAg/gTg		1		1	PGS1	HGNC	HGNC:30029	protein_coding	YES	CCDS42391.1	ENSP00000262764	Q32NB8	A0A024R8V5	UPI00000435E5	NM_024419.4	tolerated(0.05)		7/10		hmmpanther:PTHR12586,hmmpanther:PTHR12586:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	78404036	78404036	A	T	1	0	0	0	0	1	0	0	0	11897	304	11	4		4	PGS1	17	78404036	Missense_Mutation	SNP	A	C3N-00545_TP	1935167	78404036	4853405	302	15247											
USP36	0	.	GRCh38	chr17	78803762	78803762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaaaggtctttttcctCttctcagaggggctctgggg	6	12	11	12	0	4	1	1	0	4	1	6	1	5	1	2	5	0	1	2	5	1	3	rs760711915		C3N-00545_TP	C3N-00545_NB	C	C																c.2433G>T	p.Lys811Asn	p.K811N	ENST00000542802	16/21	275	240	35	154	154	0	strelka-varscan-mutect	USP36,missense_variant,p.Lys811Asn,ENST00000542802,NM_001321291.1;USP36,missense_variant,p.Lys811Asn,ENST00000312010,NM_025090.3;USP36,upstream_gene_variant,,ENST00000592231,;USP36,downstream_gene_variant,,ENST00000449938,;USP36,upstream_gene_variant,,ENST00000588130,;USP36,downstream_gene_variant,,ENST00000588467,;USP36,missense_variant,p.Lys811Asn,ENST00000589225,;USP36,missense_variant,p.Lys811Asn,ENST00000588086,;USP36,upstream_gene_variant,,ENST00000587010,;	A	ENST00000542802	Transcript	missense_variant	2877/6063	2433/3372	811/1123	K/N	aaG/aaT	rs760711915	1		-1	USP36	HGNC	HGNC:20062	protein_coding	YES	CCDS32755.1	ENSP00000441214	Q9P275	A0A024R8V6	UPI00000398BB	NM_001321291.1	deleterious(0)		16/21																			MODERATE	1	SNV	1			1										PASS		rs760711915	.												A	3	1	48	78803762	78803762	C	A	1	0	0	0	0	1	0	0	0	17609	912	32	2		2	USP36	17	78803762	Missense_Mutation	SNP	C	C3N-00545_TP	399726	78803762	4453679	303	15248											
EMILIN2	0	.	GRCh38	chr18	2892042	2892042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagagcaggtgaaaacgctGgcatgggtaggttcactaag	12	8	15	6	1	1	2	1	1	0	1	1	2	1	2	0	4	2	6	0	4	5	4	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1915G>A	p.Gly639Ser	p.G639S	ENST00000254528	4/8	291	259	32	106	106	0	strelka-varscan-mutect	EMILIN2,missense_variant,p.Gly639Ser,ENST00000254528,NM_032048.2;	A	ENST00000254528	Transcript	missense_variant	2074/5910	1915/3162	639/1053	G/S	Ggc/Agc		1		1	EMILIN2	HGNC	HGNC:19881	protein_coding	YES	CCDS11828.1	ENSP00000254528	Q9BXX0		UPI000013CE3E	NM_032048.2	tolerated(0.63)		4/8		hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	2892042	2892042	G	A	1	0	0	0	0	1	0	0	0	4937	1348	47	3		3	EMILIN2	18	2892042	Missense_Mutation	SNP	G	C3N-00545_TP		2892042	77481243	304	15249											
PIEZO2	0	.	GRCh38	chr18	10807200	10807200	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggcgtggtggtaccacGacaggtccgggttcactatg	6	10	16	9	3	1	0	1	0	0	0	2	1	2	0	2	6	1	3	2	6	2	4	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.992C>A	p.Ser331Ter	p.S331*	ENST00000503781	8/52	362	341	21	133	133	0	strelka-varscan-mutect	PIEZO2,stop_gained,p.Ser280Ter,ENST00000383408,;PIEZO2,stop_gained,p.Ser331Ter,ENST00000302079,;PIEZO2,stop_gained,p.Ser331Ter,ENST00000580640,;PIEZO2,stop_gained,p.Ser331Ter,ENST00000503781,NM_022068.3;PIEZO2,stop_gained,p.Ser54Ter,ENST00000579112,;PIEZO2,stop_gained,p.Ser331Ter,ENST00000582913,;	T	ENST00000503781	Transcript	stop_gained	992/8259	992/8259	331/2752	S/*	tCg/tAg		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3			8/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24																	HIGH	1	SNV	1			1										PASS		rs942548867	.												T	4	4	48	10807200	10807200	G	T	1	0	0	0	0	0	1	0	0	11975	1059	37	1		1	PIEZO2	18	10807200	Nonsense_Mutation	SNP	G	C3N-00545_TP	7915158	10807200	69566085	305	15250											
RNMT	0	.	GRCh38	chr18	13746310	13746310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaacaatgaaaataaaatGctcttaaaacgaatgcaggc	21	7	7	6	1	1	2	0	1	1	1	1	3	1	2	0	1	4	2	0	1	10	2	rs376815436		C3N-00545_TP	C3N-00545_NB	G	G																c.1230G>T	p.Met410Ile	p.M410I	ENST00000592764	9/12	195	173	22	34	34	0	strelka-varscan-mutect	RNMT,missense_variant,p.Met410Ile,ENST00000383314,NM_003799.1;RNMT,missense_variant,p.Met410Ile,ENST00000262173,;RNMT,missense_variant,p.Met410Ile,ENST00000592764,NM_001308263.1;RNMT,missense_variant,p.Met410Ile,ENST00000589866,;RNMT,missense_variant,p.Met410Ile,ENST00000543302,;RNMT,missense_variant,p.Met13Ile,ENST00000593007,;RNMT,missense_variant,p.Met232Ile,ENST00000588457,;RNMT,downstream_gene_variant,,ENST00000588417,;	T	ENST00000592764	Transcript	missense_variant	1427/4108	1230/1515	410/504	M/I	atG/atT	rs376815436	1		1	RNMT	HGNC	HGNC:10075	protein_coding	YES	CCDS77156.1	ENSP00000466111	O43148		UPI00000705F3	NM_001308263.1	tolerated(0.41)		9/12		Gene3D:3.40.50.150,Pfam_domain:PF03291,PIRSF_domain:PIRSF028762,PROSITE_profiles:PS51562,hmmpanther:PTHR12189,Superfamily_domains:SSF53335																	MODERATE	1	SNV	2			1										PASS		rs376815436	.												T	3	4	48	13746310	13746310	G	T	1	0	0	0	0	1	0	0	0	13686	1319	46	2		2	RNMT	18	13746310	Missense_Mutation	SNP	G	C3N-00545_TP	2939110	13746310	66626975	306	15251											
DSC3	0	.	GRCh38	chr18	31031028	31031028	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgtctgtttccttttgTcagaaagccatatggtaaat	9	17	8	7	0	3	1	1	0	2	1	4	1	4	1	2	1	1	2	2	1	4	5	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.299A>T	p.Asp100Val	p.D100V	ENST00000360428	3/16	281	259	22	88	88	0	strelka-varscan-mutect	DSC3,missense_variant,p.Asp100Val,ENST00000434452,NM_024423.3;DSC3,missense_variant,p.Asp100Val,ENST00000360428,NM_001941.4;	A	ENST00000360428	Transcript	missense_variant	380/6939	299/2691	100/896	D/V	gAc/gTc		1		-1	DSC3	HGNC	HGNC:3037	protein_coding	YES	CCDS32810.1	ENSP00000353608	Q14574		UPI000004CAAD	NM_001941.4	deleterious(0)		3/16		Gene3D:2.60.40.60,Pfam_domain:PF08758,SMART_domains:SM01055,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	31031028	31031028	T	A	1	0	0	0	0	1	0	0	0	4588	1667	58	4		4	DSC3	18	31031028	Missense_Mutation	SNP	T	C3N-00545_TP	17284718	31031028	49342257	307	15252											
ASXL3	0	.	GRCh38	chr18	33744309	33744309	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgacctccagtttgtctctGactgtctccgttgaaagctc	6	14	8	13	1	2	3	0	3	2	0	6	3	3	3	3	0	1	3	3	0	1	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.4461G>C	p.=	p.L1487L	ENST00000269197	12/12	354	304	50	192	192	0	strelka-varscan-mutect	ASXL3,synonymous_variant,p.=,ENST00000269197,NM_030632.1;ASXL3,downstream_gene_variant,,ENST00000592288,;	C	ENST00000269197	Transcript	synonymous_variant	4516/11399	4461/6747	1487/2248	L	ctG/ctC		1		1	ASXL3	HGNC	HGNC:29357	protein_coding	YES	CCDS45847.1	ENSP00000269197	Q9C0F0		UPI000156D0F3	NM_030632.1			12/12		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	48	33744309	33744309	G	C	1	0	0	0	0	0	0	0	1	1216	1277	45	4		4	ASXL3	18	33744309	Silent	SNP	G	C3N-00545_TP	2713281	33744309	46628976	308	15253											
SETBP1	0	.	GRCh38	chr18	44951061	44951061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccctctctacaccaacaCagacagtcttactgtgatca	12	9	5	15	0	3	2	1	1	2	1	4	2	3	2	2	0	4	0	2	0	3	2	rs778885474		C3N-00545_TP	C3N-00545_NB	C	C																c.1721C>A	p.Thr574Lys	p.T574K	ENST00000282030	4/6	431	388	43	266	266	0	strelka-varscan-mutect	SETBP1,missense_variant,p.Thr574Lys,ENST00000282030,NM_015559.2;	A	ENST00000282030	Transcript	missense_variant	2017/9899	1721/4791	574/1596	T/K	aCa/aAa	rs778885474	1		1	SETBP1	HGNC	HGNC:15573	protein_coding	YES	CCDS11923.2	ENSP00000282030	Q9Y6X0		UPI0000201C54	NM_015559.2	deleterious(0)		4/6		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF342																	MODERATE	1	SNV	1			1										PASS		rs778885474	.												A	3	1	48	44951061	44951061	C	A	1	0	0	0	0	1	0	0	0	14406	478	17	2		2	SETBP1	18	44951061	Missense_Mutation	SNP	C	C3N-00545_TP	11206752	44951061	35422224	309	15254											
SETBP1	0	.	GRCh38	chr18	44952602	44952602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcttccccattcatgaggCcaacagtgccaccacctcag	10	7	7	17	0	2	1	2	1	0	0	3	1	3	1	6	1	3	1	6	1	1	2	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.3262C>T	p.Pro1088Ser	p.P1088S	ENST00000282030	4/6	217	195	22	164	164	0	strelka-varscan-mutect	SETBP1,missense_variant,p.Pro1088Ser,ENST00000282030,NM_015559.2;	T	ENST00000282030	Transcript	missense_variant	3558/9899	3262/4791	1088/1596	P/S	Cca/Tca		1		1	SETBP1	HGNC	HGNC:15573	protein_coding	YES	CCDS11923.2	ENSP00000282030	Q9Y6X0		UPI0000201C54	NM_015559.2	deleterious(0)		4/6		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF342																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	44952602	44952602	C	T	1	0	0	0	0	1	0	0	0	14406	739	26	3		3	SETBP1	18	44952602	Missense_Mutation	SNP	C	C3N-00545_TP	1541	44952602	35420683	310	15255											
SERPINB11	0	.	GRCh38	chr18	63720099	63720099	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatatttcaaaggacaaTggcaaaataaatttcaagta	19	11	5	6	0	2	0	2	0	0	0	2	1	2	1	1	2	0	2	1	2	10	6	rs1506419		C3N-00545_TP	C3N-00545_NB	T	T																c.562T>A	p.Trp188Arg	p.W188R	ENST00000382749	7/9	195	115	80	14	14	0	strelka-varscan-mutect	SERPINB11,missense_variant,p.Trp188Arg,ENST00000382749,NM_080475.3;SERPINB11,missense_variant,p.Trp188Arg,ENST00000544088,;SERPINB11,intron_variant,,ENST00000623262,NM_001291278.1;SERPINB11,intron_variant,,ENST00000624518,;SERPINB11,downstream_gene_variant,,ENST00000489748,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000467649,;SERPINB11,3_prime_UTR_variant,,ENST00000536691,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000610304,;	A	ENST00000382749	Transcript	missense_variant	807/1918	562/1179	188/392	W/R	Tgg/Agg	rs1506419,CM074500	1		1	SERPINB11	HGNC	HGNC:14221	protein_coding			ENSP00000421854	Q96P15		UPI00015AAB67	NM_080475.3	deleterious(0.01)		7/9		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF199,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE		SNV	1		0,1	1										PASS		rs1506419	.												A	3	1	48	63720099	63720099	T	A	1	0	0	0	0	1	0	0	0	14374	1464	51	4		4	SERPINB11	18	63720099	Missense_Mutation	SNP	T	C3N-00545_TP	18767497	63720099	16653186	311	15256											
SALL3	0	.	GRCh38	chr18	78993037	78993037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgcctgccctggccccggGgtccctgctgggtgcggcgc	0	6	17	18	4	0	0	0	0	0	0	1	0	1	0	6	5	3	1	6	5	0	0	rs770042183		C3N-00545_TP	C3N-00545_NB	G	G																c.1046G>A	p.Gly349Glu	p.G349E	ENST00000537592	2/3	153	135	18	89	89	0	strelka-varscan-mutect	SALL3,missense_variant,p.Gly349Glu,ENST00000537592,NM_171999.3;SALL3,missense_variant,p.Gly216Glu,ENST00000536229,;SALL3,missense_variant,p.Gly349Glu,ENST00000575389,;SALL3,intron_variant,,ENST00000616649,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	A	ENST00000537592	Transcript	missense_variant	1046/6555	1046/3903	349/1300	G/E	gGg/gAg	rs770042183	1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3	deleterious(0.04)		2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46																	MODERATE	1	SNV	5			1										PASS		rs770042183	.												A	3	1	48	78993037	78993037	G	A	1	0	0	0	0	1	0	0	0	14071	1232	43	3		3	SALL3	18	78993037	Missense_Mutation	SNP	G	C3N-00545_TP	15272938	78993037	1380248	312	15257											
KLF16	0	.	GRCh38	chr19	1854477	1854477	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacaggcctgcgggggcTgggctgggcgcggggctggg	2	5	22	12	3	0	0	0	0	0	0	0	0	0	0	2	8	2	3	2	8	1	1	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.741A>T	p.=	p.P247P	ENST00000250916	2/2	57	51	6	15	15	0	strelka-mutect	KLF16,synonymous_variant,p.=,ENST00000250916,NM_031918.3;KLF16,synonymous_variant,p.=,ENST00000617223,;KLF16,synonymous_variant,p.=,ENST00000592313,;CTB-31O20.6,downstream_gene_variant,,ENST00000592884,;KLF16,synonymous_variant,p.=,ENST00000541015,;	A	ENST00000250916	Transcript	synonymous_variant	812/2890	741/759	247/252	P	ccA/ccT		1		-1	KLF16	HGNC	HGNC:16857	protein_coding	YES	CCDS12075.1	ENSP00000250916	Q9BXK1		UPI0000126B0D	NM_031918.3			2/2		Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		rs1474682900	.												A	2	1	48	1854477	1854477	T	A	1	0	0	0	0	0	0	0	1	8209	1567	55	4		4	KLF16	19	1854477	Silent	SNP	T	C3N-00545_TP		1854477	56763139	313	15258											
MYO1F	0	.	GRCh38	chr19	8552114	8552114	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagaagttggagatcttGcccccatctggctccccacc	9	8	9	15	0	2	2	0	0	2	2	3	3	3	2	5	2	2	3	5	2	2	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.555C>A	p.=	p.G185G	ENST00000338257	7/28	582	517	65	438	437	1	strelka-varscan-mutect	MYO1F,synonymous_variant,p.=,ENST00000338257,NM_012335.3;MYO1F,synonymous_variant,p.=,ENST00000613525,;MYO1F,downstream_gene_variant,,ENST00000596675,;AC092316.1,downstream_gene_variant,,ENST00000598703,;MYO1F,non_coding_transcript_exon_variant,,ENST00000594977,;MYO1F,non_coding_transcript_exon_variant,,ENST00000595325,;MYO1F,non_coding_transcript_exon_variant,,ENST00000594774,;MYO1F,non_coding_transcript_exon_variant,,ENST00000598529,;MYO1F,upstream_gene_variant,,ENST00000595191,;MYO1F,upstream_gene_variant,,ENST00000602136,;MYO1F,downstream_gene_variant,,ENST00000598321,;MYO1F,downstream_gene_variant,,ENST00000596645,;MYO1F,upstream_gene_variant,,ENST00000600825,;MYO1F,downstream_gene_variant,,ENST00000599123,;MYO1F,upstream_gene_variant,,ENST00000596937,;	T	ENST00000338257	Transcript	synonymous_variant	823/4303	555/3297	185/1098	G	ggC/ggA		1		-1	MYO1F	HGNC	HGNC:7600	protein_coding	YES	CCDS42494.1	ENSP00000344871	O00160		UPI00001678F0	NM_012335.3			7/28		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF288,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs1325583394	.												T	2	4	48	8552114	8552114	G	T	1	0	0	0	0	0	0	0	1	10074	1306	46	2		2	MYO1F	19	8552114	Silent	SNP	G	C3N-00545_TP	6697637	8552114	50065502	314	15259											
MUC16	0	.	GRCh38	chr19	8978956	8978956	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcaagaactgaagcagatGacaacagaggaatgctggtg	15	6	12	8	0	1	5	1	2	0	3	1	6	1	6	1	2	4	2	1	2	5	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.2183C>G	p.Ser728Ter	p.S728*	ENST00000397910	1/84	353	307	46	178	178	0	strelka-varscan-mutect	MUC16,stop_gained,p.Ser728Ter,ENST00000397910,NM_024690.2;	C	ENST00000397910	Transcript	stop_gained	2387/43816	2183/43524	728/14507	S/*	tCa/tGa		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84																			HIGH	1	SNV	5			1										PASS		.	.												C	4	2	48	8978956	8978956	G	C	1	0	0	0	0	0	1	0	0	9972	1294	45	4		4	MUC16	19	8978956	Nonsense_Mutation	SNP	G	C3N-00545_TP	426842	8978956	49638660	315	15260											
RFX1	0	.	GRCh38	chr19	13979508	13979508	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggctgcaccgggccgggtTtgggcgcttgtggagtggcc	2	8	20	11	4	0	0	0	0	0	0	0	1	0	1	3	6	1	4	3	6	0	2	novel		C3N-00545_TP	C3N-00545_NB	T	T																c.773A>T	p.Lys258Ile	p.K258I	ENST00000254325	7/21	161	151	10	61	61	0	strelka-mutect	RFX1,missense_variant,p.Lys258Ile,ENST00000254325,NM_002918.4;RFX1,downstream_gene_variant,,ENST00000588885,;RFX1,non_coding_transcript_exon_variant,,ENST00000589239,;RFX1,downstream_gene_variant,,ENST00000589760,;RFX1,downstream_gene_variant,,ENST00000589937,;	A	ENST00000254325	Transcript	missense_variant	1008/4332	773/2940	258/979	K/I	aAa/aTa		1		-1	RFX1	HGNC	HGNC:9982	protein_coding	YES	CCDS12301.1	ENSP00000254325	P22670		UPI000013CE29	NM_002918.4	deleterious(0.01)		7/21		Pfam_domain:PF04589																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	13979508	13979508	T	A	1	0	0	0	0	1	0	0	0	13436	1841	64	4		4	RFX1	19	13979508	Missense_Mutation	SNP	T	C3N-00545_TP	5000552	13979508	44638108	316	15261											
ZNF257	0	.	GRCh38	chr19	22052636	22052636	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcctggaagcctagaaatgGtgagagtgctgggtccgaca	10	8	14	9	1	0	2	0	1	0	2	2	5	2	3	3	3	2	1	3	3	3	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.3+1G>T		p.X1_splice	ENST00000594947		292	269	23	155	155	0	strelka-varscan-mutect	ZNF257,splice_donor_variant,,ENST00000594947,NM_033468.2;ZNF257,splice_donor_variant,,ENST00000600162,;ZNF257,splice_donor_variant,,ENST00000594363,;ZNF257,splice_donor_variant,,ENST00000597927,;AC003973.5,upstream_gene_variant,,ENST00000600071,;ZNF257,splice_donor_variant,,ENST00000596471,;ZNF257,splice_donor_variant,,ENST00000435820,NM_001316996.1;ZNF257,splice_donor_variant,,ENST00000597796,;	T	ENST00000594947	Transcript	splice_donor_variant	-/3874	3/1692	1/563				1		1	ZNF257	HGNC	HGNC:13498	protein_coding	YES	CCDS46030.1	ENSP00000470209	Q9Y2Q1		UPI0000E045CA	NM_033468.2				1/3																		HIGH	1	SNV	4			1										PASS		.	.												T	5	4	48	22052636	22052636	G	T	1	0	0	0	0	0	0	1	0	18376	1275	44	2		2	ZNF257	19	22052636	Splice_Site	SNP	G	C3N-00545_TP	8073128	22052636	36564980	317	15262											
ZNF729	0	.	GRCh38	chr19	22304757	22304757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccttggaatatgaagaGacatgagatggtaactaaac	17	8	11	5	0	0	4	0	2	0	3	0	7	0	5	1	2	3	1	1	2	6	4	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.227G>T	p.Arg76Ile	p.R76I	ENST00000601693	3/4	115	103	12	37	37	0	varscan-mutect	ZNF729,missense_variant,p.Arg76Ile,ENST00000601693,NM_001242680.1;BNIP3P31,upstream_gene_variant,,ENST00000604515,;	T	ENST00000601693	Transcript	missense_variant	345/3877	227/3759	76/1252	R/I	aGa/aTa		1		1	ZNF729	HGNC	HGNC:32464	protein_coding	YES	CCDS59368.1	ENSP00000469582	A6NN14		UPI000042600C	NM_001242680.1	tolerated(0.09)		3/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	48	22304757	22304757	G	T	1	0	0	0	0	1	0	0	0	18703	942	33	2		2	ZNF729	19	22304757	Missense_Mutation	SNP	G	C3N-00545_TP	252121	22304757	36312859	318	15263											
TSHZ3	0	.	GRCh38	chr19	31277600	31277600	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcggccttgcccaggtgAatgttcatgactgactgcag	7	11	13	10	1	1	3	1	3	0	0	1	3	1	3	2	3	2	2	2	3	1	3	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.2193T>A	p.=	p.I731I	ENST00000240587	2/2	66	57	9	21	21	0	strelka-mutect	TSHZ3,synonymous_variant,p.=,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;	T	ENST00000240587	Transcript	synonymous_variant	2521/5176	2193/3246	731/1081	I	atT/atA		1		-1	TSHZ3	HGNC	HGNC:30700	protein_coding	YES	CCDS12421.2	ENSP00000240587	Q63HK5		UPI0000202000	NM_020856.2			2/2		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	31277600	31277600	A	T	1	0	0	0	0	0	0	0	1	17130	242	9	4		4	TSHZ3	19	31277600	Silent	SNP	A	C3N-00545_TP	8972843	31277600	27340016	319	15264											
CEP89	0	.	GRCh38	chr19	32923438	32923438	+	Splice_Site	DEL	C	C	-																															cagaaacacaatgccacttgCcattcctcactggtaacagc																								novel		C3N-00545_TP	C3N-00545_NB	C	C																c.1268+1delG		p.X423_splice	ENST00000305768		120	107	13	23	23	0	sindel-pindel	CEP89,splice_donor_variant,,ENST00000305768,NM_032816.4;CEP89,splice_donor_variant,,ENST00000591698,;CEP89,intron_variant,,ENST00000586984,;	-	ENST00000305768	Transcript	splice_donor_variant	-/5678	1268/2352	423/783				1		-1	CEP89	HGNC	HGNC:25907	protein_coding	YES	CCDS32987.1	ENSP00000306105	Q96ST8		UPI000020202C	NM_032816.4				12/18																		HIGH	1	deletion	1			1										PASS		.	.												-	8	5	48	32923438	32923438	C	-	1	0	1	0	1	0	0	1	0	2987	753	26	0		0	CEP89	19	32923438	Splice_Site	DEL	C	C3N-00545_TP	1645838	32923438	25694178	320	15265											
GPATCH1	0	.	GRCh38	chr19	33112509	33112509	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcggggataagcagtcGgctgtgaagatgaagatgtt	11	10	16	4	2	0	4	0	2	0	2	2	6	0	5	0	3	1	3	0	3	3	2	rs183421733		C3N-00545_TP	C3N-00545_NB	G	G																c.1788G>T	p.=	p.S596S	ENST00000170564	13/20	317	283	34	151	151	0	strelka-varscan-mutect	GPATCH1,synonymous_variant,p.=,ENST00000170564,NM_018025.2;GPATCH1,non_coding_transcript_exon_variant,,ENST00000590062,;GPATCH1,upstream_gene_variant,,ENST00000592262,;GPATCH1,downstream_gene_variant,,ENST00000592165,;	T	ENST00000170564	Transcript	synonymous_variant	2102/3492	1788/2796	596/931	S	tcG/tcT	rs183421733	1		1	GPATCH1	HGNC	HGNC:24658	protein_coding	YES	CCDS12428.1	ENSP00000170564	Q9BRR8		UPI000004EC71	NM_018025.2			13/20		hmmpanther:PTHR13384:SF19,hmmpanther:PTHR13384																	LOW	1	SNV	1			1										PASS		rs183421733	.												T	2	4	48	33112509	33112509	G	T	1	0	0	0	0	0	0	0	1	6489	1103	39	1		1	GPATCH1	19	33112509	Silent	SNP	G	C3N-00545_TP	189071	33112509	25505107	321	15266											
ZNF780A	0	.	GRCh38	chr19	40074785	40074785	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcaaagggtttctttcCagtatgaatacttcgatgtt	11	16	7	7	1	2	1	1	1	1	0	4	2	3	1	1	1	1	3	1	1	4	7	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.1660G>T	p.Gly554Ter	p.G554*	ENST00000455521	6/6	229	195	34	67	67	0	strelka-varscan-mutect	ZNF780A,stop_gained,p.Gly519Ter,ENST00000450241,;ZNF780A,stop_gained,p.Gly553Ter,ENST00000340963,NM_001010880.2,NM_001142578.1;ZNF780A,stop_gained,p.Gly554Ter,ENST00000455521,NM_001142577.1;ZNF780A,stop_gained,p.Gly553Ter,ENST00000595687,;ZNF780A,stop_gained,p.Gly554Ter,ENST00000594395,;ZNF780A,intron_variant,,ENST00000414720,NM_001142579.1;ZNF780A,downstream_gene_variant,,ENST00000595773,;ZNF780A,downstream_gene_variant,,ENST00000599972,;AC005614.5,intron_variant,,ENST00000595508,;ZNF780A,downstream_gene_variant,,ENST00000599368,;ZNF780A,downstream_gene_variant,,ENST00000601688,;ZNF780A,downstream_gene_variant,,ENST00000601715,;	A	ENST00000455521	Transcript	stop_gained	1808/3600	1660/1929	554/642	G/*	Gga/Tga		1		-1	ZNF780A	HGNC	HGNC:27603	protein_coding	YES	CCDS46079.1	ENSP00000400997	O75290		UPI0001881B53	NM_001142577.1			6/6		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF313,Superfamily_domains:SSF57667																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	48	40074785	40074785	C	A	1	0	0	0	0	0	1	0	0	18735	603	21	2		2	ZNF780A	19	40074785	Nonsense_Mutation	SNP	C	C3N-00545_TP	6962276	40074785	18542831	322	15267											
MEGF8	0	.	GRCh38	chr19	42375841	42375841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccagccccaccacctcCaccaccccctgcagatggtg	8	4	6	23	0	0	1	0	0	0	1	1	1	1	1	10	1	2	1	10	1	0	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.7604C>T	p.Pro2535Leu	p.P2535L	ENST00000251268	42/42	124	112	12	116	116	0	strelka-varscan-mutect	MEGF8,missense_variant,p.Pro129Leu,ENST00000378073,;MEGF8,missense_variant,p.Pro2468Leu,ENST00000334370,NM_001410.2;MEGF8,missense_variant,p.Pro2535Leu,ENST00000251268,NM_001271938.1;MEGF8,3_prime_UTR_variant,,ENST00000593647,;MEGF8,intron_variant,,ENST00000598762,;MEGF8,non_coding_transcript_exon_variant,,ENST00000599787,;	T	ENST00000251268	Transcript	missense_variant	7604/9549	7604/8538	2535/2845	P/L	cCa/cTa		1		1	MEGF8	HGNC	HGNC:3233	protein_coding	YES	CCDS62693.1	ENSP00000251268	Q7Z7M0		UPI00005788D1	NM_001271938.1	tolerated(0.27)		42/42		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF287,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	48	42375841	42375841	C	T	1	0	0	0	0	1	0	0	0	9403	594	21	3		3	MEGF8	19	42375841	Missense_Mutation	SNP	C	C3N-00545_TP	2301056	42375841	16241775	323	15268											
SHANK1	0	.	GRCh38	chr19	50714200	50714200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcccgaatccgagtcatGgtaattggggtccagcccct	8	9	10	14	2	1	0	1	0	0	0	4	2	4	0	6	3	1	1	6	3	2	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.622C>A	p.His208Asn	p.H208N	ENST00000293441	4/23	292	258	34	195	194	1	strelka-varscan-mutect	SHANK1,missense_variant,p.His208Asn,ENST00000293441,NM_016148.2;SHANK1,missense_variant,p.His208Asn,ENST00000391814,;SHANK1,missense_variant,p.His208Asn,ENST00000359082,;SHANK1,upstream_gene_variant,,ENST00000483128,;	T	ENST00000293441	Transcript	missense_variant	641/6643	622/6486	208/2161	H/N	Cat/Aat		1		-1	SHANK1	HGNC	HGNC:15474	protein_coding	YES	CCDS12799.1	ENSP00000293441	Q9Y566		UPI000013E109	NM_016148.2	deleterious(0.01)		4/23		PROSITE_profiles:PS50297,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3,Pfam_domain:PF12796,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	50714200	50714200	G	T	1	0	0	0	0	1	0	0	0	14523	1348	47	2		2	SHANK1	19	50714200	Missense_Mutation	SNP	G	C3N-00545_TP	8338359	50714200	7903416	324	15269											
ZNF845	0	.	GRCh38	chr19	53351805	53351805	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagacataggaaaattcAtactggagagaaaccttaca	19	8	8	6	0	1	3	1	1	0	2	1	6	1	5	1	2	3	0	1	2	7	4	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.1130A>T	p.His377Leu	p.H377L	ENST00000458035	4/4	269	227	42	88	88	0	strelka-varscan-mutect	ZNF845,missense_variant,p.His377Leu,ENST00000458035,NM_138374.1;ZNF845,missense_variant,p.His377Leu,ENST00000595091,;ZNF525,intron_variant,,ENST00000635711,;ZNF845,downstream_gene_variant,,ENST00000601857,;	T	ENST00000458035	Transcript	missense_variant	1247/4311	1130/2913	377/970	H/L	cAt/cTt		1		1	ZNF845	HGNC	HGNC:25112	protein_coding	YES	CCDS46170.1	ENSP00000388311	Q96IR2		UPI0001662BAC	NM_138374.1	deleterious(0)		4/4		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF162,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	4			1										PASS		rs1276232094	.												T	3	4	48	53351805	53351805	A	T	1	0	0	0	0	1	0	0	0	18779	217	8	4		4	ZNF845	19	53351805	Missense_Mutation	SNP	A	C3N-00545_TP	2637605	53351805	5265811	325	15270											
ZNF587B	0	.	GRCh38	chr19	57841618	57841618	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagaaggatatcttaggcGccatcaaaaagttcacgctg	13	10	9	9	2	3	1	2	0	1	1	3	2	3	2	1	2	0	2	1	2	6	4			C3N-00545_TP	C3N-00545_NB	G	G																c.944G>T	p.Arg315Leu	p.R315L	ENST00000442832	3/4	228	201	27	96	96	0	strelka-varscan-mutect	ZNF587B,missense_variant,p.Arg315Leu,ENST00000442832,NM_001204818.1;ZNF587B,missense_variant,p.Arg315Leu,ENST00000594901,;ZNF587B,missense_variant,p.Arg265Leu,ENST00000594328,;CTD-2583A14.10,intron_variant,,ENST00000596498,;CTD-2583A14.10,intron_variant,,ENST00000598031,;CTD-2583A14.10,intron_variant,,ENST00000603271,;CTD-2583A14.10,intron_variant,,ENST00000593873,;CTD-2583A14.10,intron_variant,,ENST00000597134,;CTD-2583A14.10,intron_variant,,ENST00000604231,;	T	ENST00000442832	Transcript	missense_variant	1178/3339	944/1209	315/402	R/L	cGc/cTc	COSM5166412	1		1	ZNF587B	HGNC	HGNC:37142	protein_coding	YES	CCDS56109.1	ENSP00000392410	E7ETH6		UPI0001AE657B	NM_001204818.1	tolerated(0.17)		3/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF191,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	2		1	1										PASS		rs1176256794	.												T	3	4	48	57841618	57841618	G	T	1	0	0	0	0	1	0	0	0	18595	1087	38	1		1	ZNF587B	19	57841618	Missense_Mutation	SNP	G	C3N-00545_TP	4489813	57841618	775998	326	15271											
TMC2	0	.	GRCh38	chr20	2641240	2641240	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acactgcctgcctctggacaCcttcctatatctcggccccc	6	10	6	19	1	2	0	0	0	2	0	4	1	3	1	6	2	2	0	6	2	2	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.2610C>T	p.=	p.H870H	ENST00000358864	20/20	614	580	34	328	328	0	strelka-varscan-mutect	TMC2,synonymous_variant,p.=,ENST00000358864,NM_080751.2;	T	ENST00000358864	Transcript	synonymous_variant	2625/3169	2610/2721	870/906	H	caC/caT		1		1	TMC2	HGNC	HGNC:16527	protein_coding	YES	CCDS13029.2	ENSP00000351732	Q8TDI7		UPI0000246C98	NM_080751.2			20/20		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF17																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	2641240	2641240	C	T	1	0	0	0	0	0	0	0	1	16431	506	18	3		3	TMC2	20	2641240	Silent	SNP	C	C3N-00545_TP		2641240	61802927	327	15272											
TMX4	0	.	GRCh38	chr20	8010271	8010271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctttgcaaaagcctccCattctgaatcagtctgctgg	9	13	7	12	0	4	1	1	1	3	0	5	1	5	1	2	1	3	2	2	1	3	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.221G>T	p.Trp74Leu	p.W74L	ENST00000246024	2/8	244	215	29	132	132	0	strelka-varscan-mutect	TMX4,missense_variant,p.Trp74Leu,ENST00000246024,NM_021156.3;TMX4,missense_variant,p.Trp74Leu,ENST00000527925,;TMX4,non_coding_transcript_exon_variant,,ENST00000530935,;TMX4,3_prime_UTR_variant,,ENST00000462384,;	A	ENST00000246024	Transcript	missense_variant	437/6169	221/1050	74/349	W/L	tGg/tTg		1		-1	TMX4	HGNC	HGNC:25237	protein_coding	YES	CCDS13101.1	ENSP00000246024	Q9H1E5		UPI000003B0A9	NM_021156.3	deleterious(0)		2/8		Gene3D:3.40.30.10,Pfam_domain:PF00085,PROSITE_patterns:PS00194,PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF72,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	8010271	8010271	C	A	1	0	0	0	0	1	0	0	0	16743	595	21	2		2	TMX4	20	8010271	Missense_Mutation	SNP	C	C3N-00545_TP	5369031	8010271	56433896	328	15273											
NKX2-4	0	.	GRCh38	chr20	21396485	21396485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcgatgccggtcagcgacCccatgccggccacattcacg	7	5	11	18	6	2	0	2	0	0	0	2	2	2	0	6	2	3	0	6	2	0	1	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.491G>T	p.Gly164Val	p.G164V	ENST00000351817	2/2	181	155	26	105	105	0	strelka-varscan-mutect	NKX2-4,missense_variant,p.Gly164Val,ENST00000351817,NM_033176.1;RP11-227D2.3,upstream_gene_variant,,ENST00000419666,;RP11-227D2.3,upstream_gene_variant,,ENST00000552439,;	A	ENST00000351817	Transcript	missense_variant	1120/2238	491/1065	164/354	G/V	gGg/gTg		1		-1	NKX2-4	HGNC	HGNC:7837	protein_coding	YES	CCDS42855.1	ENSP00000345147	Q9H2Z4		UPI00001AE6EC	NM_033176.1	deleterious(0)		2/2		hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF40																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	48	21396485	21396485	C	A	1	0	0	0	0	1	0	0	0	10488	623	22	2		2	NKX2-4	20	21396485	Missense_Mutation	SNP	C	C3N-00545_TP	13386214	21396485	43047682	329	15274											
BPIFB3	0	.	GRCh38	chr20	33061791	33061791	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgcccacaccactctttgGggtcgtggaacagatgctct	7	10	11	13	1	2	1	0	0	2	1	3	2	2	2	2	3	3	2	2	3	1	1	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.551G>C	p.Gly184Ala	p.G184A	ENST00000375494	5/15	450	419	31	244	244	0	strelka-varscan-mutect	BPIFB3,missense_variant,p.Gly184Ala,ENST00000375494,NM_182658.2;	C	ENST00000375494	Transcript	missense_variant	551/1454	551/1431	184/476	G/A	gGg/gCg		1		1	BPIFB3	HGNC	HGNC:16178	protein_coding	YES	CCDS13212.1	ENSP00000364643	P59826		UPI00001B2207	NM_182658.2	tolerated(0.2)		5/15		hmmpanther:PTHR10504:SF42,hmmpanther:PTHR10504,Pfam_domain:PF01273,SMART_domains:SM00328,Superfamily_domains:SSF55394																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	48	33061791	33061791	G	C	1	0	0	0	0	1	0	0	0	1659	1232	43	4		4	BPIFB3	20	33061791	Missense_Mutation	SNP	G	C3N-00545_TP	11665306	33061791	31382376	330	15275											
ZMYND8	0	.	GRCh38	chr20	47347919	47347927	+	Splice_Site	DEL	CAGCCAAGC	CAGCCAAGC	-																															ttctgtttttatttcctcttCagccaagctgaaacagagca																								novel		C3N-00545_TP	C3N-00545_NB	CAGCCAAGC	CAGCCAAGC																c.15-1_22delGCTTGGCTG		p.X5_splice	ENST00000471951	2/23	305	289	16	108	108	0	varindel-pindel	ZMYND8,splice_acceptor_variant,,ENST00000355972,NM_001281773.2;ZMYND8,splice_acceptor_variant,,ENST00000396281,NM_001281772.2;ZMYND8,splice_acceptor_variant,,ENST00000446994,;ZMYND8,splice_acceptor_variant,,ENST00000311275,;ZMYND8,splice_acceptor_variant,,ENST00000536340,;ZMYND8,splice_acceptor_variant,,ENST00000372023,NM_001281779.2,NM_001281780.2;ZMYND8,splice_acceptor_variant,,ENST00000611941,;ZMYND8,splice_acceptor_variant,,ENST00000360911,NM_183048.3,NM_001281778.2;ZMYND8,splice_acceptor_variant,,ENST00000262975,NM_001281774.2;ZMYND8,splice_acceptor_variant,,ENST00000471951,NM_001281775.2,NM_001281776.2;ZMYND8,splice_acceptor_variant,,ENST00000619049,;ZMYND8,splice_acceptor_variant,,ENST00000352431,NM_012408.5,NM_001281783.2;ZMYND8,splice_acceptor_variant,,ENST00000458360,NM_001281771.2;ZMYND8,splice_acceptor_variant,,ENST00000461685,NM_001281777.2,NM_183047.3;ZMYND8,splice_acceptor_variant,,ENST00000617418,NM_001281782.2;ZMYND8,splice_acceptor_variant,,ENST00000540497,NM_001281781.2,NM_001281784.2;ZMYND8,splice_acceptor_variant,,ENST00000435836,;ZMYND8,splice_acceptor_variant,,ENST00000446894,;ZMYND8,splice_acceptor_variant,,ENST00000441977,;RP4-569M23.2,upstream_gene_variant,,ENST00000413818,;RP4-569M23.4,downstream_gene_variant,,ENST00000609320,;	-	ENST00000471951	Transcript	splice_acceptor_variant,coding_sequence_variant	?-49/4053	?-22/3705	?-8/1234				1		-1	ZMYND8	HGNC	HGNC:9397	protein_coding	YES	CCDS63306.1	ENSP00000420095	Q9ULU4		UPI0000695D9A	NM_001281775.2,NM_001281776.2			2/23	1/22																		HIGH	1	deletion	1			1										PASS		.	.												-	8	5	48	47347919	47347919	CAGCCAAGC	-	1	0	1	0	1	0	0	1	0	18290	835	29	0		0	ZMYND8	20	47347919	Splice_Site	DEL	CAGCCAAGC	C3N-00545_TP	14286128	47347919	17096248	331	15276											
ANKRD60	0	.	GRCh38	chr20	58218660	58218660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttcaggcggtgtgcaatGgagatgggggtctccccctt	5	11	16	9	1	2	1	1	0	1	1	3	2	2	1	2	6	1	2	2	6	1	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.873C>T	p.=	p.S291S	ENST00000457363	4/4	483	450	33	345	344	1	strelka-varscan-mutect	ANKRD60,synonymous_variant,p.=,ENST00000457363,NM_001304369.1;	A	ENST00000457363	Transcript	synonymous_variant	873/1038	873/1038	291/345	S	tcC/tcT		1		-1	ANKRD60	HGNC	HGNC:16217	protein_coding	YES	CCDS77596.1	ENSP00000396747	Q9BZ19		UPI00015B3C70	NM_001304369.1			4/4		PROSITE_profiles:PS50297,hmmpanther:PTHR22677,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	48	58218660	58218660	G	A	1	0	0	0	0	0	0	0	1	787	1335	47	3		3	ANKRD60	20	58218660	Silent	SNP	G	C3N-00545_TP	10870741	58218660	6225507	332	15277											
LAMA5	0	.	GRCh38	chr20	62317497	62317497	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggcggcgaggcgctccagCtcctggaatttgagtggact	6	9	15	11	3	0	1	0	1	0	0	2	4	2	3	2	5	1	2	2	5	1	1	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.7359G>C	p.Glu2453Asp	p.E2453D	ENST00000252999	55/80	53	49	4	31	31	0	strelka-mutect	LAMA5,missense_variant,p.Glu2453Asp,ENST00000252999,NM_005560.4;LAMA5,upstream_gene_variant,,ENST00000370691,;LAMA5,upstream_gene_variant,,ENST00000491036,;LAMA5,upstream_gene_variant,,ENST00000471042,;LAMA5,downstream_gene_variant,,ENST00000481120,;LAMA5,upstream_gene_variant,,ENST00000468786,;	G	ENST00000252999	Transcript	missense_variant,splice_region_variant	7426/11426	7359/11088	2453/3695	E/D	gaG/gaC		1		-1	LAMA5	HGNC	HGNC:6485	protein_coding	YES	CCDS33502.1	ENSP00000252999	O15230		UPI0000161FDC	NM_005560.4	tolerated(0.17)		55/80		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	48	62317497	62317497	C	G	1	0	0	0	0	1	0	0	0	8513	811	28	4		4	LAMA5	20	62317497	Missense_Mutation	SNP	C	C3N-00545_TP	4098837	62317497	2126670	333	15278											
UBASH3A	0	.	GRCh38	chr21	42437562	42437562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctccgctgtgtgcagacgGccaaactcatcctggaaggt	8	8	11	14	2	1	1	1	0	0	1	3	2	3	2	4	3	2	2	4	3	2	0	rs866123403		C3N-00545_TP	C3N-00545_NB	G	G																c.1468G>T	p.Ala490Ser	p.A490S	ENST00000319294	11/15	577	543	34	354	354	0	strelka-varscan-mutect	UBASH3A,missense_variant,p.Ala490Ser,ENST00000319294,NM_018961.3;UBASH3A,missense_variant,p.Ala452Ser,ENST00000291535,NM_001001895.2;UBASH3A,missense_variant,p.Ala452Ser,ENST00000398367,NM_001243467.1;UBASH3A,missense_variant,p.Ala452Ser,ENST00000635325,;UBASH3A,3_prime_UTR_variant,,ENST00000473381,;	T	ENST00000319294	Transcript	missense_variant	1499/2504	1468/1986	490/661	A/S	Gcc/Tcc	rs866123403	1		1	UBASH3A	HGNC	HGNC:12462	protein_coding	YES	CCDS13687.1	ENSP00000317327	P57075		UPI0000137941	NM_018961.3	deleterious(0.02)		11/15		hmmpanther:PTHR16469:SF7,hmmpanther:PTHR16469,Gene3D:3.40.50.1240,Pfam_domain:PF00300,Superfamily_domains:SSF53254																	MODERATE	1	SNV	1			1										PASS		rs866123403	.												T	3	4	48	42437562	42437562	G	T	1	0	0	0	0	1	0	0	0	17361	1203	42	2		2	UBASH3A	21	42437562	Missense_Mutation	SNP	G	C3N-00545_TP		42437562	4272421	334	15279											
COL18A1	0	.	GRCh38	chr21	45477479	45477479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggacccctgggggccgcGtgaaagaggtaaggccacct	8	5	15	13	3	0	2	0	1	0	1	1	3	1	3	6	5	0	1	6	5	2	1	rs367882523		C3N-00545_TP	C3N-00545_NB	G	G																c.2242G>A	p.Val748Met	p.V748M	ENST00000359759	6/41	560	524	36	312	312	0	strelka-varscan-mutect	COL18A1,missense_variant,p.Val748Met,ENST00000359759,NM_130444.2;COL18A1,missense_variant,p.Val513Met,ENST00000355480,NM_030582.3;COL18A1,missense_variant,p.Val333Met,ENST00000400337,NM_130445.3;MIR6815,upstream_gene_variant,,ENST00000611994,;	A	ENST00000359759	Transcript	missense_variant	2242/6586	2242/5265	748/1754	V/M	Gtg/Atg	rs367882523	1		1	COL18A1	HGNC	HGNC:2195	protein_coding	YES	CCDS77643.1	ENSP00000352798	P39060		UPI0001838820	NM_130444.2	tolerated(0.15)		6/41																			MODERATE	1	SNV	5			1										PASS		rs367882523	.												A	3	1	48	45477479	45477479	G	A	1	0	0	0	0	1	0	0	0	3463	1145	40	1		1	COL18A1	21	45477479	Missense_Mutation	SNP	G	C3N-00545_TP	3039917	45477479	1232504	335	15280											
GAB4	0	.	GRCh38	chr22	16966248	16966248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagggatgcagacaccCtgggaatcatcgcctgcttg	9	7	11	14	1	1	1	1	0	0	1	2	3	1	3	3	2	2	2	3	2	1	1	rs142214633		C3N-00545_TP	C3N-00545_NB	C	C																c.1140G>C	p.Gln380His	p.Q380H	ENST00000400588	6/10	683	610	73	371	371	0	strelka-varscan-mutect	GAB4,missense_variant,p.Gln380His,ENST00000400588,NM_001037814.1;AC006548.28,non_coding_transcript_exon_variant,,ENST00000623130,;GAB4,intron_variant,,ENST00000520505,;GAB4,downstream_gene_variant,,ENST00000523144,;GAB4,3_prime_UTR_variant,,ENST00000465611,;	G	ENST00000400588	Transcript	missense_variant	1248/2630	1140/1725	380/574	Q/H	caG/caC	rs142214633	1		-1	GAB4	HGNC	HGNC:18325	protein_coding	YES	CCDS42976.1	ENSP00000383431	Q2WGN9		UPI00002326B5	NM_001037814.1	tolerated(0.16)		6/10		hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF20																	MODERATE	1	SNV	1			1										PASS		rs142214633	.												G	3	3	48	16966248	16966248	C	G	1	0	0	0	0	1	0	0	0	6022	680	24	4		4	GAB4	22	16966248	Missense_Mutation	SNP	C	C3N-00545_TP		16966248	33852220	336	15281											
KLHL22	0	.	GRCh38	chr22	20442291	20442291	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacatcgtaaatgtgcaCgtagcctgtgcggctgccgc	7	9	11	14	4	0	0	0	0	0	0	2	0	1	0	3	1	4	4	3	1	3	2	rs199515753		C3N-00545_TP	C3N-00545_NB	C	C																c.1687G>T	p.Val563Leu	p.V563L	ENST00000328879	7/7	333	298	35	183	182	1	strelka-varscan-mutect	KLHL22,missense_variant,p.Val563Leu,ENST00000328879,NM_032775.3;SCARF2,upstream_gene_variant,,ENST00000623402,NM_153334.6;SCARF2,upstream_gene_variant,,ENST00000622235,NM_182895.4;XXbac-B562F10.12,intron_variant,,ENST00000429594,;	A	ENST00000328879	Transcript	missense_variant	1844/2616	1687/1905	563/634	V/L	Gtg/Ttg	rs199515753	1		-1	KLHL22	HGNC	HGNC:25888	protein_coding	YES	CCDS13780.1	ENSP00000331682	Q53GT1		UPI0000072F37	NM_032775.3	deleterious(0.01)		7/7		hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF193,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,Pfam_domain:PF01344,SMART_domains:SM00612,Superfamily_domains:0052715																	MODERATE	1	SNV	1			1										PASS		rs199515753	.												A	3	1	48	20442291	20442291	C	A	1	0	0	0	0	1	0	0	0	8241	536	19	1		1	KLHL22	22	20442291	Missense_Mutation	SNP	C	C3N-00545_TP	3476043	20442291	30376177	337	15282											
C1QTNF6	0	.	GRCh38	chr22	37182624	37182624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcacggggcgccggggCtgcccatctcccccttgtca	3	8	13	17	3	3	0	1	0	2	0	4	0	3	0	4	5	1	2	4	5	0	1	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.401G>T	p.Ser134Ile	p.S134I	ENST00000337843	3/3	311	286	25	251	251	0	strelka-varscan-mutect	C1QTNF6,missense_variant,p.Ser134Ile,ENST00000337843,NM_031910.3;C1QTNF6,missense_variant,p.Ser134Ile,ENST00000397110,NM_182486.1;C1QTNF6,3_prime_UTR_variant,,ENST00000434784,;RP1-151B14.6,non_coding_transcript_exon_variant,,ENST00000419128,;C1QTNF6,intron_variant,,ENST00000470655,;C1QTNF6,non_coding_transcript_exon_variant,,ENST00000493023,;	A	ENST00000337843	Transcript	missense_variant	477/2934	401/837	134/278	S/I	aGc/aTc		1		-1	C1QTNF6	HGNC	HGNC:14343	protein_coding	YES	CCDS13943.1	ENSP00000338812	Q9BXI9	A0A024R1J0	UPI0000035BB4	NM_031910.3	tolerated(0.12)		3/3		Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	37182624	37182624	C	A	1	0	0	0	0	1	0	0	0	1945	797	28	2		2	C1QTNF6	22	37182624	Missense_Mutation	SNP	C	C3N-00545_TP	16740333	37182624	13635844	338	15283											
BRD1	0	.	GRCh38	chr22	49823921	49823931	+	Frame_Shift_Del	DEL	GGGCGGACGGA	GGGCGGACGGA	-																															gtacacaggaggcctcctggGggcggacggagggctgtact																								novel		C3N-00545_TP	C3N-00545_NB	GGGCGGACGGA	GGGCGGACGGA																c.387_397delTCCGTCCGCCC	p.Pro130GlnfsTer24	p.P130Qfs*24	ENST00000457780	1/12	347	311	36	227	227	0	sindel-varindel-pindel	BRD1,frameshift_variant,p.Pro130GlnfsTer24,ENST00000457780,;BRD1,frameshift_variant,p.Pro130GlnfsTer24,ENST00000216267,;BRD1,frameshift_variant,p.Pro130GlnfsTer24,ENST00000404760,NM_001304808.1;BRD1,frameshift_variant,p.Pro130GlnfsTer24,ENST00000404034,NM_001304809.1;BRD1,upstream_gene_variant,,ENST00000459821,;BRD1,upstream_gene_variant,,ENST00000494833,;BRD1,upstream_gene_variant,,ENST00000438393,;	-	ENST00000457780	Transcript	frameshift_variant	874-884/4997	387-397/3570	129-133/1189	PPSAP/PX	ccTCCGTCCGCCCcc/cccc		1		-1	BRD1	HGNC	HGNC:1102	protein_coding	YES	CCDS77686.1	ENSP00000410042	O95696	A0A024R4V5	UPI0000367106				1/12		hmmpanther:PTHR13793:SF17,hmmpanther:PTHR13793,Pfam_domain:PF10513																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	48	49823921	49823921	GGGCGGACGGA	-	1	0	1	0	1	0	0	0	0	1671	1232	43	0		0	BRD1	22	49823921	Frame_Shift_Del	DEL	GGGCGGACGGA	C3N-00545_TP	12641297	49823921	994547	339	15284											
FRMPD4	0	.	GRCh38	chrX	12701927	12701927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggagctgaaatatgacatAgccctgcggctggccgcatt	9	8	12	12	3	0	2	0	2	0	0	0	3	0	3	3	3	3	3	3	3	3	3	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.987A>G	p.Ile329Met	p.I329M	ENST00000380682	10/17	258	234	24	140	140	0	strelka-varscan-mutect	FRMPD4,missense_variant,p.Ile329Met,ENST00000380682,NM_014728.3;FRMPD4,missense_variant,p.Ile289Met,ENST00000616992,;	G	ENST00000380682	Transcript	missense_variant	1493/8465	987/3969	329/1322	I/M	atA/atG		1		1	FRMPD4	HGNC	HGNC:29007	protein_coding	YES	CCDS35201.1	ENSP00000370057	Q14CM0		UPI00001C2066	NM_014728.3	tolerated(0.34)		10/17		Gene3D:1.20.80.10,Pfam_domain:PF00373,PROSITE_profiles:PS50057,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF362,SMART_domains:SM00295,Superfamily_domains:SSF47031																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	48	12701927	12701927	A	G	1	0	0	0	0	1	0	0	0	5930	410	15	5		5	FRMPD4	23	12701927	Missense_Mutation	SNP	A	C3N-00545_TP		12701927	143338968	340	15285											
KLHL34	0	.	GRCh38	chrX	21656035	21656035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgcgggtaggcacctggCgcgagtcccgccacttgagg	5	7	16	13	5	0	1	0	1	0	0	1	2	1	1	3	4	1	3	3	4	1	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.1754G>T	p.Arg585Leu	p.R585L	ENST00000379499	1/1	98	90	8	84	84	0	strelka-varscan-mutect	KLHL34,missense_variant,p.Arg585Leu,ENST00000379499,NM_153270.2;CNKSR2,downstream_gene_variant,,ENST00000425654,NM_001168647.1;CNKSR2,downstream_gene_variant,,ENST00000379510,NM_014927.3;	A	ENST00000379499	Transcript	missense_variant	2296/3641	1754/1935	585/644	R/L	cGc/cTc		1		-1	KLHL34	HGNC	HGNC:26634	protein_coding	YES	CCDS14199.1	ENSP00000368813	Q8N239		UPI0000072CC4	NM_153270.2	deleterious(0.03)		1/1		Superfamily_domains:0052715,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF199																	MODERATE		SNV				1										PASS		.	.												A	3	1	48	21656035	21656035	C	A	1	0	0	0	0	1	0	0	0	8253	768	27	1		1	KLHL34	23	21656035	Missense_Mutation	SNP	C	C3N-00545_TP	8954108	21656035	134384860	341	15286											
PRDX4	0	.	GRCh38	chrX	23675142	23675142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatattcgtagaaaaaaaaGaatggatttactcttaaagc	18	13	6	4	1	1	2	0	0	1	2	2	3	1	3	0	1	2	1	0	1	11	7	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.512G>A	p.Arg171Lys	p.R171K	ENST00000379331	3/3	120	111	9	23	23	0	strelka-mutect	PRDX4,missense_variant,p.Arg171Lys,ENST00000379331,;PRDX4,intron_variant,,ENST00000379341,NM_006406.1;PRDX4,intron_variant,,ENST00000379349,;PRDX4,intron_variant,,ENST00000439422,;PRDX4,intron_variant,,ENST00000495599,;	A	ENST00000379331	Transcript	missense_variant	532/852	512/561	171/186	R/K	aGa/aAa		1		1	PRDX4	HGNC	HGNC:17169	protein_coding			ENSP00000368635		A6NG45	UPI00002124AE		deleterious_low_confidence(0)		3/3		PROSITE_profiles:PS51352																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	48	23675142	23675142	G	A	1	0	0	0	0	1	0	0	0	12599	942	33	3		3	PRDX4	23	23675142	Missense_Mutation	SNP	G	C3N-00545_TP	2019107	23675142	132365753	342	15287											
CXorf58	0	.	GRCh38	chrX	23935253	23935253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagaaataacagctggCgcaaattaaatcttgaaaat	17	8	9	7	2	1	2	0	1	1	1	1	2	1	2	0	2	2	3	0	2	7	3			C3N-00545_TP	C3N-00545_NB	C	C																c.613C>T	p.Arg205Cys	p.R205C	ENST00000379211	7/9	146	138	8	45	45	0	strelka-mutect	CXorf58,missense_variant,p.Arg205Cys,ENST00000379211,NM_152761.2,NM_001169574.1;	T	ENST00000379211	Transcript	missense_variant	1162/1752	613/999	205/332	R/C	Cgc/Tgc	COSM1467289,COSM1467290	1		1	CXorf58	HGNC	HGNC:26356	protein_coding	YES	CCDS14209.1	ENSP00000368511	Q96LI9		UPI00001AEC5F	NM_152761.2,NM_001169574.1	deleterious(0)		7/9		hmmpanther:PTHR33504,hmmpanther:PTHR33504:SF1											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1191542694	.												T	3	4	48	23935253	23935253	C	T	1	0	0	0	0	1	0	0	0	3918	768	27	1		1	CXorf58	23	23935253	Missense_Mutation	SNP	C	C3N-00545_TP	260111	23935253	132105642	343	15288											
MAGEB6P1	0	.	GRCh38	chrX	26160646	26160646	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtgcccgtgggaaacgcCgagagacccatgatcagccg	9	5	13	14	5	1	2	1	1	0	1	2	5	2	3	5	1	3	0	5	1	1	0	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.46C>G	p.Arg16Gly	p.R16G	ENST00000416929	1/1	104	97	7	90	90	0	strelka-varscan-mutect	MAGEB6P1,missense_variant,p.Arg16Gly,ENST00000416929,;	G	ENST00000416929	Transcript	missense_variant	46/1224	46/1224	16/407	R/G	Cga/Gga		1		1	MAGEB6P1	HGNC	HGNC:28824	protein_coding	YES		ENSP00000488257		A0A0J9YX57	UPI0000237759		deleterious(0.01)		1/1		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF80,Pfam_domain:PF12440,SMART_domains:SM01392																	MODERATE	1	SNV				1										PASS		rs1267681062	.												G	3	3	48	26160646	26160646	C	G	1	0	0	0	0	1	0	0	0	9097	644	23	4		4	MAGEB6P1	23	26160646	Missense_Mutation	SNP	C	C3N-00545_TP	2225393	26160646	129880249	344	15289											
MAGEB6	0	.	GRCh38	chrX	26194879	26194879	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagataagtacgtggtttacCggcaggtgtgcaacagtgat	12	10	13	6	2	0	2	0	1	0	1	0	2	0	2	1	3	4	4	1	3	5	4			C3N-00545_TP	C3N-00545_NB	C	C																c.1033C>A	p.=	p.R345R	ENST00000379034	2/2	181	162	19	108	108	0	varscan-mutect	MAGEB6,synonymous_variant,p.=,ENST00000379034,NM_173523.2;	A	ENST00000379034	Transcript	synonymous_variant	1182/1949	1033/1224	345/407	R	Cgg/Agg	COSM612178	1		1	MAGEB6	HGNC	HGNC:23796	protein_coding	YES	CCDS14217.1	ENSP00000368320	Q8N7X4		UPI00001413F4	NM_173523.2			2/2		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF80,hmmpanther:PTHR11736,Pfam_domain:PF01454,SMART_domains:SM01373											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	48	26194879	26194879	C	A	1	0	0	0	0	0	0	0	1	9096	643	23	1		1	MAGEB6	23	26194879	Silent	SNP	C	C3N-00545_TP	34233	26194879	129846016	345	15290											
MAGEB6	0	.	GRCh38	chrX	26194999	26194999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcagtaacaccagtcccGgtttatacccacatctgtat	12	10	6	13	1	1	0	0	0	1	0	2	0	2	0	3	1	3	4	3	1	4	5	rs192290000		C3N-00545_TP	C3N-00545_NB	G	G																c.1153G>C	p.Gly385Arg	p.G385R	ENST00000379034	2/2	158	137	21	101	100	1	strelka-varscan-mutect	MAGEB6,missense_variant,p.Gly385Arg,ENST00000379034,NM_173523.2;	C	ENST00000379034	Transcript	missense_variant	1302/1949	1153/1224	385/407	G/R	Ggt/Cgt	rs192290000,COSM4522272	1		1	MAGEB6	HGNC	HGNC:23796	protein_coding	YES	CCDS14217.1	ENSP00000368320	Q8N7X4		UPI00001413F4	NM_173523.2	tolerated(0.18)		2/2		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF80,hmmpanther:PTHR11736											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs192290000	.												C	3	2	48	26194999	26194999	G	C	1	0	0	0	0	1	0	0	0	9096	1116	39	4		4	MAGEB6	23	26194999	Missense_Mutation	SNP	G	C3N-00545_TP	120	26194999	129845896	346	15291											
FAM47C	0	.	GRCh38	chrX	37008551	37008552	+	Frame_Shift_Ins	INS	-	-	T																															cgcctgtggacacccagaacINStgggtatttgtgacggaggg																								novel		C3N-00545_TP	C3N-00545_NB	-	-																c.142dupT	p.Trp48LeufsTer19	p.W48Lfs*19	ENST00000358047	1/1	183	170	13	193	193	0	sindel-varindel-pindel	FAM47C,frameshift_variant,p.Trp48LeufsTer19,ENST00000358047,NM_001013736.2;	T	ENST00000358047	Transcript	frameshift_variant	155-156/3270	141-142/3108	47-48/1035	-/X	-/T		1		1	FAM47C	HGNC	HGNC:25301	protein_coding	YES	CCDS35227.1	ENSP00000367913	Q5HY64		UPI000041ABF8	NM_001013736.2			1/1		hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642																	HIGH	1	insertion		1		1										PASS		.	.												T	7	5	48	37008551	37008551	-	T	1	0	1	1	0	0	0	0	0	5449	564	20	0		0	FAM47C	23	37008551	Frame_Shift_Ins	INS	-	C3N-00545_TP	10813552	37008551	119032344	347	15292											
JADE3	0	.	GRCh38	chrX	47024817	47024817	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacagagcctggctacatCaacatcatggagttggcagc	12	7	10	12	0	2	1	2	0	0	1	2	2	2	2	2	3	4	3	2	3	2	2	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.378C>T	p.=	p.I126I	ENST00000614628	5/11	199	169	30	101	101	0	strelka-varscan-mutect	JADE3,synonymous_variant,p.=,ENST00000614628,NM_014735.4;JADE3,synonymous_variant,p.=,ENST00000611250,NM_001077445.2;JADE3,synonymous_variant,p.=,ENST00000424392,;JADE3,downstream_gene_variant,,ENST00000455411,;	T	ENST00000614628	Transcript	synonymous_variant	676/4934	378/2472	126/823	I	atC/atT		1		1	JADE3	HGNC	HGNC:22982	protein_coding	YES	CCDS14271.1	ENSP00000481850	Q92613	A0A024R1A2	UPI0000073DE6	NM_014735.4			5/11		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF27,Pfam_domain:PF10513																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	47024817	47024817	C	T	1	0	0	0	0	0	0	0	1	7846	816	29	3		3	JADE3	23	47024817	Silent	SNP	C	C3N-00545_TP	10016266	47024817	109016078	348	15293											
ZNF41	0	.	GRCh38	chrX	47448515	47448515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgattttcttgtgaaagCcttcccacattcattgcatt	8	17	6	10	0	2	2	1	2	1	0	3	2	3	2	2	0	3	2	2	0	1	7	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.1255G>T	p.Ala419Ser	p.A419S	ENST00000377065	5/5	143	120	23	55	55	0	strelka-varscan-mutect	ZNF41,missense_variant,p.Ala419Ser,ENST00000377065,NM_153380.2,NM_007130.2;ZNF41,missense_variant,p.Ala419Ser,ENST00000313116,;ZNF41,downstream_gene_variant,,ENST00000432977,;ZNF41,downstream_gene_variant,,ENST00000465311,;	A	ENST00000377065	Transcript	missense_variant	1895/4531	1255/2340	419/779	A/S	Gct/Tct		1		-1	ZNF41	HGNC	HGNC:13107	protein_coding	YES	CCDS14279.1	ENSP00000366265	P51814	A0A024R1C4	UPI0000001C0E	NM_153380.2,NM_007130.2	deleterious(0.02)		5/5		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF82,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	47448515	47448515	C	A	1	0	0	0	0	1	0	0	0	18461	739	26	2		2	ZNF41	23	47448515	Missense_Mutation	SNP	C	C3N-00545_TP	423698	47448515	108592380	349	15294											
ERAS	0	.	GRCh38	chrX	48829280	48829280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgggcgccagtggcgtgGgcaagagtgcgctgaccatc	6	7	18	10	3	0	2	0	1	0	1	1	2	0	2	2	4	1	2	2	4	1	0	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.157G>T	p.Gly53Cys	p.G53C	ENST00000338270	1/1	115	108	7	46	46	0	strelka-mutect	ERAS,missense_variant,p.Gly53Cys,ENST00000338270,;ERAS,missense_variant,p.Gly53Cys,ENST00000636362,NM_181532.3;HDAC6,downstream_gene_variant,,ENST00000334136,NM_001321227.1,NM_001321229.1;HDAC6,downstream_gene_variant,,ENST00000376619,NM_001321225.1,NM_001321228.1,NM_006044.2;PCSK1N,downstream_gene_variant,,ENST00000218230,NM_013271.4;HDAC6,downstream_gene_variant,,ENST00000430858,;PCSK1N,downstream_gene_variant,,ENST00000611033,;HDAC6,downstream_gene_variant,,ENST00000477528,;HDAC6,downstream_gene_variant,,ENST00000486227,;HDAC6,downstream_gene_variant,,ENST00000488543,;	T	ENST00000338270	Transcript	missense_variant	408/1266	157/702	53/233	G/C	Ggc/Tgc		1		1	ERAS	HGNC	HGNC:5174	protein_coding	YES	CCDS35246.1	ENSP00000339136	Q7Z444		UPI0000160110		deleterious(0)		1/1		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF261,Low_complexity_(Seg):seg,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231																	MODERATE		SNV				1										PASS		.	.												T	3	4	48	48829280	48829280	G	T	1	0	0	0	0	1	0	0	0	5054	1232	43	2		2	ERAS	23	48829280	Missense_Mutation	SNP	G	C3N-00545_TP	1380765	48829280	107211615	350	15295											
SLC35A2	0	.	GRCh38	chrX	48905249	48905249	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctttgaggatcttctcAaagtagacacctgcgaagcc	10	10	9	12	1	2	2	1	1	2	1	3	4	2	3	3	1	3	1	3	1	3	3	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.744T>A	p.Phe248Leu	p.F248L	ENST00000452555	5/5	140	117	23	92	92	0	strelka-varscan-mutect	SLC35A2,stop_gained,p.Leu75Ter,ENST00000413561,;SLC35A2,missense_variant,p.Phe220Leu,ENST00000376521,NM_001042498.2;SLC35A2,missense_variant,p.Phe220Leu,ENST00000247138,NM_005660.2;SLC35A2,missense_variant,p.Phe233Leu,ENST00000616181,NM_001282650.1;SLC35A2,missense_variant,p.Phe248Leu,ENST00000452555,NM_001282651.1;SLC35A2,missense_variant,p.Phe159Leu,ENST00000635589,NM_001282649.1;SLC35A2,missense_variant,p.Phe148Leu,ENST00000446885,;SLC35A2,intron_variant,,ENST00000445167,NM_001032289.2;SLC35A2,intron_variant,,ENST00000376515,NM_001282648.1;SLC35A2,intron_variant,,ENST00000376529,NM_001282647.1;SLC35A2,intron_variant,,ENST00000635460,;PQBP1,downstream_gene_variant,,ENST00000218224,NM_005710.2;PQBP1,downstream_gene_variant,,ENST00000376563,NM_001032381.1,NM_001167989.1,NM_001032382.1,NM_001032383.1;PQBP1,downstream_gene_variant,,ENST00000447146,NM_001167990.1;SLC35A2,downstream_gene_variant,,ENST00000635015,;PQBP1,downstream_gene_variant,,ENST00000396763,NM_001032384.1;SLC35A2,downstream_gene_variant,,ENST00000376512,;PQBP1,downstream_gene_variant,,ENST00000376566,NM_144495.2;PQBP1,downstream_gene_variant,,ENST00000443648,;PQBP1,downstream_gene_variant,,ENST00000247140,;SLC35A2,downstream_gene_variant,,ENST00000635238,;SLC35A2,downstream_gene_variant,,ENST00000634461,;SLC35A2,downstream_gene_variant,,ENST00000634665,;PQBP1,downstream_gene_variant,,ENST00000456306,;PQBP1,downstream_gene_variant,,ENST00000473764,;PQBP1,downstream_gene_variant,,ENST00000463529,;PQBP1,downstream_gene_variant,,ENST00000470059,;PQBP1,downstream_gene_variant,,ENST00000477997,;PQBP1,downstream_gene_variant,,ENST00000474671,;PQBP1,downstream_gene_variant,,ENST00000486150,;PQBP1,downstream_gene_variant,,ENST00000465859,;PQBP1,downstream_gene_variant,,ENST00000470062,;PQBP1,downstream_gene_variant,,ENST00000472742,;SLC35A2,missense_variant,p.Phe220Leu,ENST00000635285,;SLC35A2,3_prime_UTR_variant,,ENST00000635628,;	T	ENST00000452555	Transcript	missense_variant	754/1563	744/1266	248/421	F/L	ttT/ttA		1		-1	SLC35A2	HGNC	HGNC:11022	protein_coding	YES	CCDS65254.1	ENSP00000416002	P78381		UPI0000E25D09	NM_001282651.1	deleterious(0.02)		5/5		Pfam_domain:PF04142,hmmpanther:PTHR10231,hmmpanther:PTHR10231:SF51,TIGRFAM_domain:TIGR00803,Transmembrane_helices:TMhelix																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	48	48905249	48905249	A	T	1	0	0	0	0	1	0	0	0	14841	127	5	4		4	SLC35A2	23	48905249	Missense_Mutation	SNP	A	C3N-00545_TP	75969	48905249	107135646	351	15296											
KDM5C	0	.	GRCh38	chrX	53201886	53201886	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaagttgacagcctcggCaaagttgtagccttggttga	11	10	12	8	1	0	2	0	2	0	0	1	2	0	2	2	2	2	6	2	2	4	5	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.1834G>C	p.Ala612Pro	p.A612P	ENST00000375401	13/26	600	470	130	354	354	0	strelka-varscan-mutect	KDM5C,missense_variant,p.Ala545Pro,ENST00000452825,NM_001146702.1;KDM5C,missense_variant,p.Ala612Pro,ENST00000375401,NM_004187.3;KDM5C,missense_variant,p.Ala611Pro,ENST00000404049,NM_001282622.1;KDM5C,missense_variant,p.Ala612Pro,ENST00000375379,;KDM5C,missense_variant,p.Ala571Pro,ENST00000375383,;MIR6894,upstream_gene_variant,,ENST00000622662,;KDM5C,non_coding_transcript_exon_variant,,ENST00000465402,;KDM5C,upstream_gene_variant,,ENST00000477109,;KDM5C,non_coding_transcript_exon_variant,,ENST00000497100,;KDM5C,non_coding_transcript_exon_variant,,ENST00000481369,;	G	ENST00000375401	Transcript	missense_variant	2367/6031	1834/4683	612/1560	A/P	Gcc/Ccc		1		-1	KDM5C	HGNC	HGNC:11114	protein_coding	YES	CCDS14351.1	ENSP00000364550	P41229		UPI000013CBE3	NM_004187.3	deleterious(0.02)		13/26		Pfam_domain:PF02373,PROSITE_profiles:PS51184,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF43,SMART_domains:SM00558,Superfamily_domains:SSF51197																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	48	53201886	53201886	C	G	1	0	0	0	0	1	0	0	0	8053	710	25	4		4	KDM5C	23	53201886	Missense_Mutation	SNP	C	C3N-00545_TP	4296637	53201886	102839009	352	15297											
TRO	0	.	GRCh38	chrX	54923190	54923190	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggccatagctagtgccAccgaggtctcgctggctgca	9	8	12	12	2	1	0	0	0	1	0	2	1	1	0	3	3	3	4	3	3	3	3	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.658A>T	p.Thr220Ser	p.T220S	ENST00000173898	3/13	336	309	27	189	189	0	strelka-varscan-mutect	TRO,missense_variant,p.Thr220Ser,ENST00000173898,NM_001039705.2;TRO,missense_variant,p.Thr220Ser,ENST00000319167,NM_016157.3;TRO,missense_variant,p.Thr220Ser,ENST00000375022,NM_177556.2;TRO,missense_variant,p.Thr176Ser,ENST00000411534,;TRO,missense_variant,p.Thr176Ser,ENST00000430420,;TRO,intron_variant,,ENST00000420798,NM_001271183.1;TRO,intron_variant,,ENST00000375041,NM_001271184.1;TRO,intron_variant,,ENST00000622017,;TRO,intron_variant,,ENST00000399736,NM_177557.2;TRO,intron_variant,,ENST00000431115,;TRO,downstream_gene_variant,,ENST00000452830,;TRO,downstream_gene_variant,,ENST00000453081,;TRO,downstream_gene_variant,,ENST00000440759,;TRO,downstream_gene_variant,,ENST00000442098,;TRO,downstream_gene_variant,,ENST00000440072,;TRO,downstream_gene_variant,,ENST00000416704,;TRO,downstream_gene_variant,,ENST00000449980,;TRO,downstream_gene_variant,,ENST00000427099,;SNORA11,upstream_gene_variant,,ENST00000408823,;TRO,intron_variant,,ENST00000484031,;TRO,upstream_gene_variant,,ENST00000475183,;TRO,upstream_gene_variant,,ENST00000492142,;TRO,downstream_gene_variant,,ENST00000474933,;TRO,missense_variant,p.Thr220Ser,ENST00000445561,;TRO,upstream_gene_variant,,ENST00000492706,;TRO,upstream_gene_variant,,ENST00000469211,;	T	ENST00000173898	Transcript	missense_variant	770/4647	658/4296	220/1431	T/S	Acc/Tcc		1		1	TRO	HGNC	HGNC:12326	protein_coding	YES	CCDS43959.1	ENSP00000173898	Q12816		UPI000021208F	NM_001039705.2	tolerated(0.25)		3/13																			MODERATE	1	SNV	1			1										PASS		rs1264855226	.												T	3	4	48	54923190	54923190	A	T	1	0	0	0	0	1	0	0	0	17079	159	6	4		4	TRO	23	54923190	Missense_Mutation	SNP	A	C3N-00545_TP	1721304	54923190	101117705	353	15298											
ZXDB	0	.	GRCh38	chrX	57592412	57592412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgttgagggaggaggccGaggagggcccggggctccag	6	5	21	9	2	0	1	0	1	0	0	1	5	1	4	3	7	0	2	3	7	0	1	rs199513692		C3N-00545_TP	C3N-00545_NB	G	G																c.364G>A	p.Glu122Lys	p.E122K	ENST00000374888	1/1	190	164	26	93	92	1	strelka-varscan	ZXDB,missense_variant,p.Glu122Lys,ENST00000374888,NM_007157.3;	A	ENST00000374888	Transcript	missense_variant	761/5894	364/2412	122/803	E/K	Gag/Aag	rs199513692	1		1	ZXDB	HGNC	HGNC:13199	protein_coding	YES	CCDS35313.1	ENSP00000364023	P98169		UPI000013C495	NM_007157.3	tolerated_low_confidence(0.24)		1/1		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF85																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	48	57592412	57592412	G	A	1	0	0	0	0	1	0	0	0	18854	1059	37	1		1	ZXDB	23	57592412	Missense_Mutation	SNP	G	C3N-00545_TP	2669222	57592412	98448483	354	15299											
ZC3H12B	0	.	GRCh38	chrX	65503127	65503127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttctaacatcgtccttgCagtgatggagaagaatcccc	10	10	8	13	1	1	3	0	1	1	2	4	4	3	3	4	1	2	1	4	1	3	3	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.2429C>A	p.Ala810Glu	p.A810E	ENST00000338957	5/5	151	124	27	66	66	0	strelka-varscan-mutect	ZC3H12B,missense_variant,p.Ala810Glu,ENST00000338957,NM_001010888.3;ZC3H12B,downstream_gene_variant,,ENST00000617377,;	A	ENST00000338957	Transcript	missense_variant	2496/7256	2429/2511	810/836	A/E	gCa/gAa		1		1	ZC3H12B	HGNC	HGNC:17407	protein_coding	YES	CCDS48131.2	ENSP00000340839	Q5HYM0		UPI00001D7BEA	NM_001010888.3	tolerated(0.08)		5/5		hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF27																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	65503127	65503127	C	A	1	0	0	0	0	1	0	0	0	18137	710	25	2		2	ZC3H12B	23	65503127	Missense_Mutation	SNP	C	C3N-00545_TP	7910715	65503127	90537768	355	15300											
MED12	0	.	GRCh38	chrX	71121603	71121603	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgcatacctgtcccgccgGcttgcctacttctgtacacg	5	12	8	16	3	2	0	0	0	2	0	3	0	3	0	4	1	5	3	4	1	3	5	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.888G>T	p.=	p.R296R	ENST00000374080	7/45	325	242	83	182	182	0	strelka-varscan-mutect	MED12,synonymous_variant,p.=,ENST00000333646,;MED12,synonymous_variant,p.=,ENST00000374102,;MED12,synonymous_variant,p.=,ENST00000374080,NM_005120.2;MED12,downstream_gene_variant,,ENST00000429213,;MED12,upstream_gene_variant,,ENST00000462984,;MED12,upstream_gene_variant,,ENST00000471663,;	T	ENST00000374080	Transcript	synonymous_variant	920/6795	888/6534	296/2177	R	cgG/cgT		1		1	MED12	HGNC	HGNC:11957	protein_coding	YES	CCDS43970.1	ENSP00000363193	Q93074		UPI00004257E2	NM_005120.2			7/45		Pfam_domain:PF12145,hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF24																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	48	71121603	71121603	G	T	1	0	0	0	0	0	0	0	1	9367	1190	42	2		2	MED12	23	71121603	Silent	SNP	G	C3N-00545_TP	5618476	71121603	84919292	356	15301											
NAP1L2	0	.	GRCh38	chrX	73214284	73214284	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccttttttcccatcttccCcggacccagcagcagtatct	7	12	5	17	1	2	0	0	0	2	0	4	1	4	1	5	1	2	3	5	1	1	5			C3N-00545_TP	C3N-00545_NB	C	C																c.209G>C	p.Gly70Ala	p.G70A	ENST00000373517	1/1	171	125	46	85	85	0	strelka-varscan-mutect	NAP1L2,missense_variant,p.Gly70Ala,ENST00000373517,NM_021963.3;	G	ENST00000373517	Transcript	missense_variant	565/2550	209/1383	70/460	G/A	gGg/gCg	COSM613430	1		-1	NAP1L2	HGNC	HGNC:7638	protein_coding	YES	CCDS14423.1	ENSP00000362616	Q9ULW6		UPI00001303E8	NM_021963.3	tolerated(0.65)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF36											1						MODERATE	1	SNV			1	1										PASS		rs1347469893	.												G	3	3	48	73214284	73214284	C	G	1	0	0	0	0	1	0	0	0	10166	623	22	4		4	NAP1L2	23	73214284	Missense_Mutation	SNP	C	C3N-00545_TP	2092681	73214284	82826611	357	15302											
ZDHHC15	0	.	GRCh38	chrX	75421888	75421888	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaataggtattaaccagAacttcttcttatctccaaac	15	12	3	11	0	3	1	0	0	3	1	4	1	3	1	3	1	4	1	3	1	8	6	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.839T>G	p.Phe280Cys	p.F280C	ENST00000373367	9/12	126	111	15	28	28	0	strelka-varscan-mutect	ZDHHC15,missense_variant,p.Phe271Cys,ENST00000541184,NM_001146256.1;ZDHHC15,missense_variant,p.Phe280Cys,ENST00000373367,NM_144969.2;	C	ENST00000373367	Transcript	missense_variant	1070/5796	839/1014	280/337	F/C	tTc/tGc		1		-1	ZDHHC15	HGNC	HGNC:20342	protein_coding	YES	CCDS14430.1	ENSP00000362465	Q96MV8		UPI000006DB5A	NM_144969.2	deleterious(0.01)		9/12		hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF68																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	48	75421888	75421888	A	C	1	0	0	0	0	1	0	0	0	18181	246	9	5		5	ZDHHC15	23	75421888	Missense_Mutation	SNP	A	C3N-00545_TP	2207604	75421888	80619007	358	15303											
RPS6KA6	0	.	GRCh38	chrX	84119928	84119928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcagcactctgggaatggCctctcctatttactacttca	10	13	6	12	0	4	0	2	0	2	0	5	1	4	1	2	2	3	1	2	2	5	5	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.746G>T	p.Gly249Val	p.G249V	ENST00000262752	9/22	100	93	7	19	19	0	strelka-mutect	RPS6KA6,missense_variant,p.Gly249Val,ENST00000620340,;RPS6KA6,missense_variant,p.Gly249Val,ENST00000262752,NM_014496.4;	A	ENST00000262752	Transcript	missense_variant	754/2547	746/2238	249/745	G/V	gGc/gTc		1		-1	RPS6KA6	HGNC	HGNC:10435	protein_coding	YES	CCDS14451.1	ENSP00000262752	Q9UK32		UPI0000035B52	NM_014496.4	deleterious(0)		9/22		PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF98,PIRSF_domain:PIRSF000606,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	84119928	84119928	C	A	1	0	0	0	0	1	0	0	0	13910	739	26	2		2	RPS6KA6	23	84119928	Missense_Mutation	SNP	C	C3N-00545_TP	8698040	84119928	71920967	359	15304											
KLHL4	0	.	GRCh38	chrX	87517928	87517928	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagaaagagtttgatgtgaAacagatcctaaggctacgct	15	9	10	7	1	0	5	0	2	0	3	1	5	1	5	1	1	2	3	1	1	5	3	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.35A>T	p.Lys12Ile	p.K12I	ENST00000373114	1/11	84	65	19	39	39	0	strelka-varscan-mutect	KLHL4,missense_variant,p.Lys12Ile,ENST00000373119,NM_019117.4;KLHL4,missense_variant,p.Lys12Ile,ENST00000373114,NM_057162.2;	T	ENST00000373114	Transcript	missense_variant	115/2445	35/2163	12/720	K/I	aAa/aTa		1		1	KLHL4	HGNC	HGNC:6355	protein_coding	YES	CCDS14456.1	ENSP00000362206	Q9C0H6		UPI000002ACC4	NM_057162.2	deleterious_low_confidence(0)		1/11																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	87517928	87517928	A	T	1	0	0	0	0	1	0	0	0	8257	14	1	4		4	KLHL4	23	87517928	Missense_Mutation	SNP	A	C3N-00545_TP	3398000	87517928	68522967	360	15305											
TEX13C	0	.	GRCh38	chrX	125323093	125323093	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgagaatggcagcgttgacCcagcgtaaactcattgattt	11	12	10	8	2	1	3	1	3	0	1	1	4	1	3	1	1	3	3	1	1	3	5	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.2974C>G	p.Pro992Ala	p.P992A	ENST00000632600	1/1	102	81	21	58	58	0	strelka-varscan-mutect	TEX13C,missense_variant,p.Pro992Ala,ENST00000632600,NM_001195272.1;RP13-147D17.1,downstream_gene_variant,,ENST00000394467,;	G	ENST00000632600	Transcript	missense_variant	2974/5095	2974/2982	992/993	P/A	Cca/Gca		1		1	TEX13C	HGNC	HGNC:52277	protein_coding	YES		ENSP00000488022	A0A0J9YWL9		UPI000016014C	NM_001195272.1	deleterious(0)		1/1																			MODERATE	1	SNV				1										PASS		.	.												G	3	3	48	125323093	125323093	C	G	1	0	0	0	0	1	0	0	0	16199	623	22	4		4	TEX13C	23	125323093	Missense_Mutation	SNP	C	C3N-00545_TP	37805165	125323093	30717802	361	15306											
SAGE1	0	.	GRCh38	chrX	135908893	135908893	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactcacagtgttcgtgaaGagaagatggaaagtggcaaa	15	9	12	5	1	1	3	1	1	0	2	2	5	1	4	0	2	1	2	0	2	5	2	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.1471G>T	p.Glu491Ter	p.E491*	ENST00000324447	13/20	116	88	28	44	44	0	strelka-mutect	SAGE1,stop_gained,p.Glu491Ter,ENST00000324447,;SAGE1,stop_gained,p.Glu491Ter,ENST00000370709,NM_018666.2;SAGE1,intron_variant,,ENST00000537770,;	T	ENST00000324447	Transcript	stop_gained	1545/2952	1471/2715	491/904	E/*	Gag/Tag		1		1	SAGE1	HGNC	HGNC:30369	protein_coding	YES	CCDS14652.1	ENSP00000323191	Q9NXZ1		UPI00001413AB				13/20		hmmpanther:PTHR12957:SF25,hmmpanther:PTHR12957																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	48	135908893	135908893	G	T	1	0	0	0	0	0	1	0	0	14068	943	33	2		2	SAGE1	23	135908893	Nonsense_Mutation	SNP	G	C3N-00545_TP	10585800	135908893	20132002	362	15307											
MAGEC1	0	.	GRCh38	chrX	141905452	141905452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgccgagtcttctccaGagttcctctgagagtcctca	7	11	11	12	1	4	2	1	1	3	2	7	5	6	3	4	1	1	1	4	1	0	2	rs763808010		C3N-00545_TP	C3N-00545_NB	G	G																c.48G>T	p.Gln16His	p.Q16H	ENST00000285879	4/4	115	83	32	70	70	0	varscan-mutect	MAGEC1,missense_variant,p.Gln16His,ENST00000285879,NM_005462.4;MAGEC1,5_prime_UTR_variant,,ENST00000406005,;	T	ENST00000285879	Transcript	missense_variant	334/4270	48/3429	16/1142	Q/H	caG/caT	rs763808010,COSM3800432	1		1	MAGEC1	HGNC	HGNC:6812	protein_coding	YES	CCDS35417.1	ENSP00000285879	O60732		UPI000006F2FD	NM_005462.4	deleterious_low_confidence(0)		4/4		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs763808010	.												T	3	4	48	141905452	141905452	G	T	1	0	0	0	0	1	0	0	0	9098	933	33	2		2	MAGEC1	23	141905452	Missense_Mutation	SNP	G	C3N-00545_TP	5996559	141905452	14135443	363	15308											
AFF2	0	.	GRCh38	chrX	148956305	148956305	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatctgtggtgccagcCtgaccctcagcaccttaatg	10	9	10	12	0	2	1	1	1	1	0	2	2	2	2	4	2	3	1	4	2	2	1	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.2260C>A	p.Leu754Met	p.L754M	ENST00000370460	11/21	264	188	76	140	139	1	strelka-varscan-mutect	AFF2,missense_variant,p.Leu754Met,ENST00000370460,NM_001169123.1,NM_002025.3;AFF2,missense_variant,p.Leu395Met,ENST00000286437,NM_001170628.1;AFF2,missense_variant,p.Leu721Met,ENST00000342251,NM_001169122.1;AFF2,missense_variant,p.Leu719Met,ENST00000370457,NM_001169124.1,NM_001169125.1;	A	ENST00000370460	Transcript	missense_variant	2739/13746	2260/3936	754/1311	L/M	Ctg/Atg		1		1	AFF2	HGNC	HGNC:3776	protein_coding	YES	CCDS14684.1	ENSP00000359489	P51816		UPI000049E130	NM_001169123.1,NM_002025.3	tolerated(0.18)		11/21		Low_complexity_(Seg):seg,hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF18,Pfam_domain:PF05110																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	48	148956305	148956305	C	A	1	0	0	0	0	1	0	0	0	434	680	24	2		2	AFF2	23	148956305	Missense_Mutation	SNP	C	C3N-00545_TP	7050853	148956305	7084590	364	15309											
PRRG3	0	.	GRCh38	chrX	151699982	151699982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccattccaggcctcagtagGgctctctcctcagtgtttct	5	13	8	15	0	4	0	2	0	2	0	7	0	6	0	4	2	0	3	4	2	1	3	novel		C3N-00545_TP	C3N-00545_NB	G	G																c.18G>T	p.Arg6Ser	p.R6S	ENST00000370354	3/4	31	23	8	21	21	0	strelka-varscan-mutect	PRRG3,missense_variant,p.Arg6Ser,ENST00000370354,;PRRG3,intron_variant,,ENST00000370353,;PRRG3,intron_variant,,ENST00000538575,NM_024082.3;PRRG3,intron_variant,,ENST00000448726,;PRRG3,upstream_gene_variant,,ENST00000448324,;	T	ENST00000370354	Transcript	missense_variant	115/650	18/309	6/102	R/S	agG/agT		1		1	PRRG3	HGNC	HGNC:30798	protein_coding			ENSP00000359379		A6NDZ7	UPI000059DB9F		tolerated_low_confidence(0.35)		3/4																			MODERATE		SNV	3			1										PASS		.	.												T	3	4	48	151699982	151699982	G	T	1	0	0	0	0	1	0	0	0	12753	1223	43	2		2	PRRG3	23	151699982	Missense_Mutation	SNP	G	C3N-00545_TP	2743677	151699982	4340913	365	15310											
CSAG1	0	.	GRCh38	chrX	152728076	152728076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttccccttcctcgcctCtttggtgttgatgggtggtt	1	18	11	11	1	1	1	0	1	1	0	4	1	3	1	4	3	1	3	4	3	0	5	novel		C3N-00545_TP	C3N-00545_NB	C	C																c.165G>T	p.Lys55Asn	p.K55N	ENST00000370287	4/5	481	374	107	328	328	0	strelka-varscan-mutect	CSAG1,missense_variant,p.Lys55Asn,ENST00000370291,;CSAG1,missense_variant,p.Lys55Asn,ENST00000370287,NM_153478.2;CSAG1,missense_variant,p.Lys55Asn,ENST00000452779,NM_001102576.2;CSAG1,splice_region_variant,,ENST00000361211,;	A	ENST00000370287	Transcript	missense_variant,splice_region_variant	493/875	165/237	55/78	K/N	aaG/aaT		1		-1	CSAG1	HGNC	HGNC:24294	protein_coding	YES	CCDS76047.1	ENSP00000359310		A0A024RC18	UPI00001D9618	NM_153478.2	deleterious_low_confidence(0)		4/5																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	48	152728076	152728076	C	A	1	0	0	0	0	1	0	0	0	3728	927	32	2		2	CSAG1	23	152728076	Missense_Mutation	SNP	C	C3N-00545_TP	1028094	152728076	3312819	366	15311											
MPP1	0	.	GRCh38	chrX	154781699	154781699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccttggtagctgccaaaCtccaagaactcattggcaga	11	10	9	11	0	1	2	1	0	0	2	2	2	2	2	3	2	5	3	3	2	4	4	rs782334052		C3N-00545_TP	C3N-00545_NB	C	C																c.1050G>T	p.Glu350Asp	p.E350D	ENST00000369534	10/12	217	205	12	101	101	0	strelka-varscan-mutect	MPP1,missense_variant,p.Glu320Asp,ENST00000413259,NM_001166462.1;MPP1,missense_variant,p.Glu350Asp,ENST00000369534,NM_001166460.1,NM_002436.3;MPP1,missense_variant,p.Glu330Asp,ENST00000393531,NM_001166461.1;DKC1,downstream_gene_variant,,ENST00000620277,NM_001288747.1;DKC1,downstream_gene_variant,,ENST00000369550,NM_001142463.2,NM_001363.4;MPP1,downstream_gene_variant,,ENST00000393529,;MPP1,downstream_gene_variant,,ENST00000453245,;MPP1,downstream_gene_variant,,ENST00000428488,;MPP1,downstream_gene_variant,,ENST00000462825,;MPP1,downstream_gene_variant,,ENST00000488754,;MPP1,downstream_gene_variant,,ENST00000488694,;DKC1,downstream_gene_variant,,ENST00000492372,;MPP1,3_prime_UTR_variant,,ENST00000439370,;MPP1,non_coding_transcript_exon_variant,,ENST00000491955,;MPP1,upstream_gene_variant,,ENST00000482757,;MPP1,downstream_gene_variant,,ENST00000417435,;MPP1,downstream_gene_variant,,ENST00000494170,;MPP1,downstream_gene_variant,,ENST00000475943,;MPP1,downstream_gene_variant,,ENST00000493871,;	A	ENST00000369534	Transcript	missense_variant	1198/2042	1050/1401	350/466	E/D	gaG/gaT	rs782334052	1		-1	MPP1	HGNC	HGNC:7219	protein_coding	YES	CCDS14762.1	ENSP00000358547	Q00013		UPI0000129E86	NM_001166460.1,NM_002436.3	deleterious(0.02)		10/12		PROSITE_profiles:PS50052,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF37,Pfam_domain:PF00625,Gene3D:3.30.63.10,SMART_domains:SM00072,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs782334052	.												A	3	1	48	154781699	154781699	C	A	1	0	0	0	0	1	0	0	0	9699	564	20	2		2	MPP1	23	154781699	Missense_Mutation	SNP	C	C3N-00545_TP	2053623	154781699	1259196	367	15312											
DDX3Y	0	.	GRCh38	chrY	12913755	12913755	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggagaaattatcatggggaAcattgaacttactcgctata	14	11	10	6	1	1	2	1	1	0	1	2	4	1	3	0	3	3	1	0	3	7	5	novel		C3N-00545_TP	C3N-00545_NB	A	A																c.575A>T	p.Asn192Ile	p.N192I	ENST00000360160	8/18	166	115	51	22	22	0	strelka-varscan-mutect	DDX3Y,missense_variant,p.Asn192Ile,ENST00000336079,NM_004660.4,NM_001302552.1;DDX3Y,missense_variant,p.Asn192Ile,ENST00000360160,NM_001122665.2;DDX3Y,missense_variant,p.Asn192Ile,ENST00000454054,;DDX3Y,missense_variant,p.Asn189Ile,ENST00000440554,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000463199,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000472510,;DDX3Y,non_coding_transcript_exon_variant,,ENST00000469101,;DDX3Y,downstream_gene_variant,,ENST00000493363,;DDX3Y,upstream_gene_variant,,ENST00000495478,;	T	ENST00000360160	Transcript	missense_variant	884/2709	575/1983	192/660	N/I	aAc/aTc		1		1	DDX3Y	HGNC	HGNC:2699	protein_coding	YES	CCDS14782.1	ENSP00000353284	O15523	A0A024R9A4	UPI00000741D9	NM_001122665.2	deleterious(0)		8/18		PROSITE_profiles:PS51195,hmmpanther:PTHR24031:SF332,hmmpanther:PTHR24031,Gene3D:3.40.50.300																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	48	12913755	12913755	A	T	1	0	0	0	0	1	0	0	0	4162	43	2	4		4	DDX3Y	24	12913755	Missense_Mutation	SNP	A	C3N-00545_TP		12913755	44313660	368	15313											
ATP13A2	0	.	GRCh38	chr1	17000309	17000309	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgtcccttagagtctggcTttgctgtgggcaggggacaa	7	11	14	9	0	1	1	0	0	1	1	2	2	2	2	1	4	1	3	1	4	2	2	rs538497077		C3N-00546_TP	C3N-00546_NB	T	T																c.844A>C	p.Ser282Arg	p.S282R	ENST00000326735	10/29	586	481	105	413	412	1	strelka-varscan-mutect	ATP13A2,missense_variant,p.Ser277Arg,ENST00000452699,NM_001141973.2;ATP13A2,missense_variant,p.Ser282Arg,ENST00000326735,NM_022089.3;ATP13A2,missense_variant,p.Ser277Arg,ENST00000341676,NM_001141974.2;ATP13A2,missense_variant,p.Ser257Arg,ENST00000510069,;ATP13A2,missense_variant,p.Ser2Arg,ENST00000506174,;ATP13A2,missense_variant,p.Ser177Arg,ENST00000511957,;ATP13A2,missense_variant,p.Ser180Arg,ENST00000508222,;ATP13A2,5_prime_UTR_variant,,ENST00000617114,;ATP13A2,upstream_gene_variant,,ENST00000503552,;ATP13A2,downstream_gene_variant,,ENST00000509619,;RP1-37C10.3,intron_variant,,ENST00000446261,;ATP13A2,non_coding_transcript_exon_variant,,ENST00000463860,;ATP13A2,upstream_gene_variant,,ENST00000502860,;ATP13A2,upstream_gene_variant,,ENST00000509392,;	G	ENST00000326735	Transcript	missense_variant	878/3840	844/3543	282/1180	S/R	Agc/Cgc	rs538497077,CM098008	1		-1	ATP13A2	HGNC	HGNC:30213	protein_coding	YES	CCDS175.1	ENSP00000327214	Q9NQ11		UPI0000049724	NM_022089.3	tolerated(0.27)		10/29		Superfamily_domains:0049473,Gene3D:2.70.150.10,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF86,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01657																	MODERATE	1	SNV	1		0,1	1										PASS		rs538497077	.												G	3	3	49	17000309	17000309	T	G	1	0	0	0	0	1	0	0	0	1276	1623	56	5		5	ATP13A2	1	17000309	Missense_Mutation	SNP	T	C3N-00546_TP		17000309	231956113	1	15314											
DNAJC6	0	.	GRCh38	chr1	65384280	65384280	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggcccagccattcgattgCtatatgcaaagcgaccagga	11	8	10	12	2	0	0	0	0	0	0	1	3	0	1	3	2	4	2	3	2	3	4	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.754C>G	p.Leu252Val	p.L252V	ENST00000371069	6/19	75	62	13	91	91	0	strelka-varscan-mutect	DNAJC6,missense_variant,p.Leu182Val,ENST00000263441,NM_001256865.1;DNAJC6,missense_variant,p.Leu195Val,ENST00000395325,NM_014787.3;DNAJC6,missense_variant,p.Leu252Val,ENST00000371069,NM_001256864.1;DNAJC6,missense_variant,p.Leu226Val,ENST00000494710,;DNAJC6,non_coding_transcript_exon_variant,,ENST00000498720,;DNAJC6,downstream_gene_variant,,ENST00000472787,;	G	ENST00000371069	Transcript	missense_variant	955/5365	754/2913	252/970	L/V	Cta/Gta		1		1	DNAJC6	HGNC	HGNC:15469	protein_coding	YES	CCDS58004.1	ENSP00000360108	O75061		UPI000022AE8A	NM_001256864.1	deleterious(0)		6/19		PROSITE_profiles:PS51181,hmmpanther:PTHR23172:SF4,hmmpanther:PTHR23172,Gene3D:3.90.190.10,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		rs1338260319	.												G	3	3	49	65384280	65384280	C	G	1	0	0	0	0	1	0	0	0	4466	796	28	4		4	DNAJC6	1	65384280	Missense_Mutation	SNP	C	C3N-00546_TP	48383971	65384280	183572142	2	15315											
AK5	0	.	GRCh38	chr1	77535905	77535905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagacaccatgaccaaccGccttctccaaaggagccgga	12	4	10	15	2	1	2	0	1	1	1	2	4	1	4	6	3	2	1	6	3	2	1	rs777102302		C3N-00546_TP	C3N-00546_NB	G	G																c.1487G>A	p.Arg496His	p.R496H	ENST00000354567	13/14	204	160	44	156	156	0	strelka-varscan-mutect	AK5,missense_variant,p.Arg470His,ENST00000344720,NM_012093.3;AK5,missense_variant,p.Arg496His,ENST00000354567,NM_174858.2;AK5,missense_variant,p.Arg11His,ENST00000478255,;AK5,downstream_gene_variant,,ENST00000530826,;AK5,upstream_gene_variant,,ENST00000466393,;AK5,intron_variant,,ENST00000527263,;	A	ENST00000354567	Transcript	missense_variant	1750/3251	1487/1689	496/562	R/H	cGc/cAc	rs777102302	1		1	AK5	HGNC	HGNC:365	protein_coding	YES	CCDS675.1	ENSP00000346577	Q9Y6K8		UPI0000167E20	NM_174858.2	deleterious(0)		13/14		HAMAP:MF_00235,hmmpanther:PTHR23359:SF79,hmmpanther:PTHR23359,Gene3D:3.40.50.300,Pfam_domain:PF00406,TIGRFAM_domain:TIGR01360,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs777102302	.												A	3	1	49	77535905	77535905	G	A	1	0	0	0	0	1	0	0	0	522	1087	38	1		1	AK5	1	77535905	Missense_Mutation	SNP	G	C3N-00546_TP	12151625	77535905	171420517	3	15316											
FUBP1	0	.	GRCh38	chr1	77969974	77969974	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccataaccatagtcatttgaAttcagtgatgtccctgcatc	11	13	6	11	0	2	2	2	2	0	0	4	2	3	2	3	0	2	1	3	0	3	4	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.162T>A	p.Asn54Lys	p.N54K	ENST00000370768	2/20	196	168	28	216	216	0	strelka-varscan-mutect	FUBP1,missense_variant,p.Asn54Lys,ENST00000370767,;FUBP1,missense_variant,p.Asn54Lys,ENST00000370768,NM_003902.4,NM_001303433.1;FUBP1,missense_variant,p.Asn54Lys,ENST00000421641,;FUBP1,missense_variant,p.Asn54Lys,ENST00000294623,;	T	ENST00000370768	Transcript	missense_variant	244/2378	162/1935	54/644	N/K	aaT/aaA		1		-1	FUBP1	HGNC	HGNC:4004	protein_coding	YES	CCDS683.1	ENSP00000359804	Q96AE4		UPI0000070218	NM_003902.4,NM_001303433.1	deleterious(0.02)		2/20		hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF99																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	49	77969974	77969974	A	T	1	0	0	0	0	1	0	0	0	5963	98	4	4		4	FUBP1	1	77969974	Missense_Mutation	SNP	A	C3N-00546_TP	434069	77969974	170986448	4	15317											
GBP3	0	.	GRCh38	chr1	89013211	89013211	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgaccttgatgcctcctGaaagagttttagttttggaa	10	15	9	7	0	0	4	0	3	0	1	1	5	1	5	3	1	1	2	3	1	3	6			C3N-00546_TP	C3N-00546_NB	G	G																c.842C>G	p.Ser281Ter	p.S281*	ENST00000370481	6/11	201	179	22	185	185	0	strelka-varscan-mutect	GBP3,stop_gained,p.Ser281Ter,ENST00000370481,NM_018284.2;GBP3,stop_gained,p.Ser30Ter,ENST00000445969,;GBP3,upstream_gene_variant,,ENST00000461384,;GBP3,downstream_gene_variant,,ENST00000564665,;GBP3,downstream_gene_variant,,ENST00000475853,;GBP3,stop_gained,p.Ser281Ter,ENST00000489444,;GBP3,3_prime_UTR_variant,,ENST00000493594,;GBP3,3_prime_UTR_variant,,ENST00000235878,;GBP3,non_coding_transcript_exon_variant,,ENST00000370482,;GBP3,downstream_gene_variant,,ENST00000568006,;	C	ENST00000370481	Transcript	stop_gained	1063/3067	842/1788	281/595	S/*	tCa/tGa	COSM4510615	1		-1	GBP3	HGNC	HGNC:4184	protein_coding	YES	CCDS717.2	ENSP00000359512	Q9H0R5		UPI0000204D81	NM_018284.2			6/11		hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF31											1						HIGH	1	SNV	1		1	1										PASS		rs760256930	.												C	4	2	49	89013211	89013211	G	C	1	0	0	0	0	0	1	0	0	6145	1294	45	4		4	GBP3	1	89013211	Nonsense_Mutation	SNP	G	C3N-00546_TP	11043237	89013211	159943211	5	15318											
HFM1	0	.	GRCh38	chr1	91385705	91385705	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactgaaatttttgcttactAttgctatagttccttgattt	9	21	5	6	0	0	2	0	2	0	0	1	2	1	2	1	0	4	3	1	0	6	11	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.624T>C	p.=	p.N208N	ENST00000370425	5/39	248	182	66	251	251	0	strelka-varscan-mutect	HFM1,synonymous_variant,p.=,ENST00000370425,NM_001017975.4;HFM1,synonymous_variant,p.=,ENST00000427444,;HFM1,synonymous_variant,p.=,ENST00000448819,;HFM1,non_coding_transcript_exon_variant,,ENST00000481900,;HFM1,non_coding_transcript_exon_variant,,ENST00000488023,;	G	ENST00000370425	Transcript	synonymous_variant	723/4931	624/4308	208/1435	N	aaT/aaC		1		-1	HFM1	HGNC	HGNC:20193	protein_coding	YES	CCDS30769.2	ENSP00000359454	A2PYH4		UPI0000F51F79	NM_001017975.4			5/39																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	49	91385705	91385705	A	G	1	0	0	0	0	0	0	0	1	6967	446	16	5		5	HFM1	1	91385705	Silent	SNP	A	C3N-00546_TP	2372494	91385705	157570717	6	15319											
RWDD3	0	.	GRCh38	chr1	95246648	95246648	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacaaaagtacagacagAacacaaaaggtataatttag	22	7	7	5	0	0	3	0	1	0	2	0	3	0	3	0	1	3	2	0	1	10	5	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.680A>C	p.Glu227Ala	p.E227A	ENST00000370202	3/4	76	62	14	90	90	0	strelka-varscan-mutect	RWDD3,missense_variant,p.Glu227Ala,ENST00000370202,NM_001199682.1,NM_015485.4;RWDD3,intron_variant,,ENST00000263893,NM_001128142.1;TMEM56-RWDD3,intron_variant,,ENST00000604203,;TMEM56-RWDD3,downstream_gene_variant,,ENST00000604534,NM_001199691.1;RP11-57H12.5,intron_variant,,ENST00000624604,;RP11-57H12.5,intron_variant,,ENST00000444665,;RP11-57H12.5,intron_variant,,ENST00000630835,;RP11-57H12.5,downstream_gene_variant,,ENST00000624135,;RP11-57H12.5,downstream_gene_variant,,ENST00000598739,;RWDD3,non_coding_transcript_exon_variant,,ENST00000495272,;RWDD3,non_coding_transcript_exon_variant,,ENST00000460571,;RWDD3,non_coding_transcript_exon_variant,,ENST00000497058,;RWDD3,intron_variant,,ENST00000473397,;RWDD3,downstream_gene_variant,,ENST00000492639,;	C	ENST00000370202	Transcript	missense_variant	756/1235	680/804	227/267	E/A	gAa/gCa		1		1	RWDD3	HGNC	HGNC:21393	protein_coding	YES	CCDS41357.1	ENSP00000359221	Q9Y3V2		UPI000059D012	NM_001199682.1,NM_015485.4	tolerated(0.17)		3/4		hmmpanther:PTHR15628																	MODERATE		SNV	3			1										PASS		.	.												C	3	2	49	95246648	95246648	A	C	1	0	0	0	0	1	0	0	0	14018	246	9	5		5	RWDD3	1	95246648	Missense_Mutation	SNP	A	C3N-00546_TP	3860943	95246648	153709774	7	15320											
NBPF6	0	.	GRCh38	chr1	108470612	108470612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacagataccaaatactgctGaaaggatgcaaaggatgata	18	8	9	6	0	0	3	0	2	0	1	0	5	0	5	1	2	5	2	1	2	7	4	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.1891G>A	p.Glu631Lys	p.E631K	ENST00000495380	15/15	149	126	23	149	149	0	strelka-varscan-mutect	NBPF6,missense_variant,p.Glu631Lys,ENST00000495380,NM_001143988.1;NBPF6,missense_variant,p.Glu631Lys,ENST00000294652,;NBPF6,missense_variant,p.Glu660Lys,ENST00000370040,NM_001143987.1;	A	ENST00000495380	Transcript	missense_variant	2104/2494	1891/1917	631/638	E/K	Gaa/Aaa		1		1	NBPF6	HGNC	HGNC:31988	protein_coding	YES	CCDS44184.1	ENSP00000417277	Q5VWK0		UPI0000160A67	NM_001143988.1	deleterious_low_confidence(0.02)		15/15																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	49	108470612	108470612	G	A	1	0	0	0	0	1	0	0	0	10214	1291	45	3		3	NBPF6	1	108470612	Missense_Mutation	SNP	G	C3N-00546_TP	13223964	108470612	140485810	8	15321											
CD1C	0	.	GRCh38	chr1	158292726	158292726	+	Silent	SNP	G	G	T																															cggaatgaacaggagcaactGggcactaaacatggtgatat																										C3N-00546_TP	C3N-00546_NB	G	G																c.741G>T	p.=	p.L247L	ENST00000368170	4/6	437	385	52	369	369	0	strelka-varscan-mutect	CD1C,synonymous_variant,p.=,ENST00000368170,NM_001765.2;CD1C,synonymous_variant,p.=,ENST00000443761,;	T	ENST00000368170	Transcript	synonymous_variant	1020/1435	741/1002	247/333	L	ctG/ctT	COSM1498704	1		1	CD1C	HGNC	HGNC:1636	protein_coding	YES	CCDS1175.1	ENSP00000357152	P29017		UPI000013DF78	NM_001765.2			4/6		PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF155,hmmpanther:PTHR16675,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	49	158292726	158292726	G	T	1	0	0	0	0	0	0	0	1	2679	1335	47	2		2	CD1C	1	158292726	Silent	SNP	G	C3N-00546_TP	49822114	158292726	90663696	9	15322	327	2									
CD1C	0	.	GRCh38	chr1	158292727	158292727	+	Missense_Mutation	SNP	G	G	T																															ggaatgaacaggagcaactgGgcactaaacatggtgatatt																								novel		C3N-00546_TP	C3N-00546_NB	G	G																c.742G>T	p.Gly248Cys	p.G248C	ENST00000368170	4/6	440	388	52	362	362	0	strelka-varscan-mutect	CD1C,missense_variant,p.Gly248Cys,ENST00000368170,NM_001765.2;CD1C,missense_variant,p.Gly183Cys,ENST00000443761,;	T	ENST00000368170	Transcript	missense_variant	1021/1435	742/1002	248/333	G/C	Ggc/Tgc		1		1	CD1C	HGNC	HGNC:1636	protein_coding	YES	CCDS1175.1	ENSP00000357152	P29017		UPI000013DF78	NM_001765.2	deleterious(0)		4/6		PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF155,hmmpanther:PTHR16675,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	49	158292727	158292727	G	T	1	0	0	0	0	1	0	0	0	2679	1232	43	2		2	CD1C	1	158292727	Missense_Mutation	SNP	G	C3N-00546_TP	1	158292727	90663695	10	15323	327	2									
DUSP27	0	.	GRCh38	chr1	167127643	167127643	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacctaaaggaacttggcCggaaggagaaggagatgcag	14	5	16	6	1	0	2	0	0	0	2	0	7	0	5	2	6	2	1	2	6	5	2	rs532909371		C3N-00546_TP	C3N-00546_NB	C	C																c.2512C>A	p.=	p.R838R	ENST00000361200	6/6	247	211	36	221	221	0	strelka-varscan-mutect	DUSP27,synonymous_variant,p.=,ENST00000361200,;DUSP27,synonymous_variant,p.=,ENST00000443333,NM_001080426.1;DUSP27,synonymous_variant,p.=,ENST00000271385,;GPA33,intron_variant,,ENST00000632571,;DUSP27,intron_variant,,ENST00000485151,;	A	ENST00000361200	Transcript	synonymous_variant	2678/4164	2512/3477	838/1158	R	Cgg/Agg	rs532909371	1		1	DUSP27	HGNC	HGNC:25034	protein_coding	YES	CCDS30932.1	ENSP00000354483	Q5VZP5		UPI000040DFF5				6/6		Coiled-coils_(Ncoils):Coil																	LOW	1	SNV	5			1										PASS		rs532909371	.												A	2	1	49	167127643	167127643	C	A	1	0	0	0	0	0	0	0	1	4646	643	23	1		1	DUSP27	1	167127643	Silent	SNP	C	C3N-00546_TP	8834916	167127643	81828779	11	15324											
F5	0	.	GRCh38	chr1	169541419	169541419	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcatctgaccgagggctGgggaaaggtttctctgaatg	8	10	16	7	1	2	2	0	2	2	0	3	4	2	3	1	5	0	3	1	5	2	1	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.3671C>G	p.Pro1224Arg	p.P1224R	ENST00000367797	13/25	557	476	81	446	445	1	strelka-varscan-mutect	F5,missense_variant,p.Pro1229Arg,ENST00000367796,;F5,missense_variant,p.Pro1224Arg,ENST00000367797,NM_000130.4;	C	ENST00000367797	Transcript	missense_variant	3873/7024	3671/6675	1224/2224	P/R	cCa/cGa		1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4	deleterious(0.02)		13/25		PIRSF_domain:PIRSF000354																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	49	169541419	169541419	G	C	1	0	0	0	0	1	0	0	0	5216	1348	47	4		4	F5	1	169541419	Missense_Mutation	SNP	G	C3N-00546_TP	2413776	169541419	79415003	12	15325											
SELP	0	.	GRCh38	chr1	169617274	169617274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagggtaggaccttattgaGgtaatcaatttcatttttat	11	17	9	4	0	2	1	2	1	0	0	2	2	2	2	1	3	0	3	1	3	6	9	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.235C>G	p.Leu79Val	p.L79V	ENST00000263686	3/17	367	310	57	317	317	0	strelka-varscan-mutect	SELP,missense_variant,p.Leu79Val,ENST00000263686,NM_003005.3;SELP,missense_variant,p.Leu78Val,ENST00000426706,;SELP,missense_variant,p.Leu79Val,ENST00000367788,;SELP,missense_variant,p.Leu79Val,ENST00000367786,;SELP,missense_variant,p.Leu79Val,ENST00000458599,;SELP,missense_variant,p.Leu79Val,ENST00000367795,;	C	ENST00000263686	Transcript	missense_variant	273/3142	235/2493	79/830	L/V	Ctc/Gtc		1		-1	SELP	HGNC	HGNC:10721	protein_coding	YES	CCDS1282.1	ENSP00000263686	P16109	A0A024R8Y9	UPI0000204D4A	NM_003005.3	deleterious(0)		3/17		PROSITE_profiles:PS50041,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF19,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	49	169617274	169617274	G	C	1	0	0	0	0	1	0	0	0	14296	1000	35	4		4	SELP	1	169617274	Missense_Mutation	SNP	G	C3N-00546_TP	75855	169617274	79339148	13	15326											
ZBTB37	0	.	GRCh38	chr1	173885833	173885833	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtctgccgcatgtgtggCaagaagtatacccggaaaga	11	9	12	9	3	1	2	0	0	1	2	2	3	1	3	2	2	2	3	2	2	5	3	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.1221C>A	p.=	p.G407G	ENST00000367701	4/4	300	271	29	297	296	1	strelka-varscan-mutect	ZBTB37,synonymous_variant,p.=,ENST00000367701,;ZBTB37,synonymous_variant,p.=,ENST00000427304,NM_001122770.1;ZBTB37,3_prime_UTR_variant,,ENST00000367704,;	A	ENST00000367701	Transcript	synonymous_variant	1412/19128	1221/1512	407/503	G	ggC/ggA		1		1	ZBTB37	HGNC	HGNC:28365	protein_coding	YES	CCDS44278.1	ENSP00000356674	Q5TC79		UPI0000203C09				4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF2,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	49	173885833	173885833	C	A	1	0	0	0	0	0	0	0	1	18107	697	25	2		2	ZBTB37	1	173885833	Silent	SNP	C	C3N-00546_TP	4268559	173885833	75070589	14	15327											
PAPPA2	0	.	GRCh38	chr1	176692276	176692276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaccaacaagtccctcaCtatccactggctgcctccta	11	8	5	17	0	1	1	1	0	0	1	4	1	4	1	5	1	2	1	5	1	4	2	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.2582C>A	p.Thr861Asn	p.T861N	ENST00000367662	6/23	123	105	18	95	95	0	strelka-mutect	PAPPA2,missense_variant,p.Thr861Asn,ENST00000367662,NM_020318.2;PAPPA2,downstream_gene_variant,,ENST00000367661,NM_021936.2;	A	ENST00000367662	Transcript	missense_variant	3746/9691	2582/5376	861/1791	T/N	aCt/aAt		1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2	deleterious(0)		6/23		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF1,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs1329850767	.												A	3	1	49	176692276	176692276	C	A	1	0	0	0	0	1	0	0	0	11513	565	20	2		2	PAPPA2	1	176692276	Missense_Mutation	SNP	C	C3N-00546_TP	2806443	176692276	72264146	15	15328											
ASTN1	0	.	GRCh38	chr1	177164491	177164491	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagaggagcttgggctcCgaggccgaggggctgtgcat	8	6	19	8	2	0	2	0	0	0	2	1	6	1	3	2	5	2	4	2	5	1	1	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.186G>A	p.=	p.S62S	ENST00000361833	1/23	222	204	18	155	155	0	strelka-varscan-mutect	ASTN1,synonymous_variant,p.=,ENST00000361833,NM_004319.2;ASTN1,synonymous_variant,p.=,ENST00000367657,NM_001286164.1;ASTN1,synonymous_variant,p.=,ENST00000424564,NM_207108.2;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;	T	ENST00000361833	Transcript	synonymous_variant	200/7116	186/3885	62/1294	S	tcG/tcA		1		-1	ASTN1	HGNC	HGNC:773	protein_coding	YES	CCDS1319.1	ENSP00000354536	O14525		UPI0000160388	NM_004319.2			1/23		hmmpanther:PTHR16592:SF8,hmmpanther:PTHR16592																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	49	177164491	177164491	C	T	1	0	0	0	0	0	0	0	1	1211	639	23	1		1	ASTN1	1	177164491	Silent	SNP	C	C3N-00546_TP	472215	177164491	71791931	16	15329											
CACNA1S	0	.	GRCh38	chr1	201050502	201050502	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccatgatgacagccacAaagaggttgatgacctgcaa	13	9	10	9	0	0	5	0	4	0	1	1	5	1	5	3	1	2	2	3	1	2	2	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.4128T>C	p.=	p.F1376F	ENST00000362061	34/44	583	490	93	460	460	0	strelka-varscan-mutect	CACNA1S,synonymous_variant,p.=,ENST00000362061,NM_000069.2;CACNA1S,synonymous_variant,p.=,ENST00000367338,;	G	ENST00000362061	Transcript	synonymous_variant	4355/6166	4128/5622	1376/1873	F	ttT/ttC		1		-1	CACNA1S	HGNC	HGNC:1397	protein_coding	YES	CCDS1407.1	ENSP00000355192	Q13698		UPI000020471D	NM_000069.2			34/44		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	49	201050502	201050502	A	G	1	0	0	0	0	0	0	0	1	2235	127	5	5		5	CACNA1S	1	201050502	Silent	SNP	A	C3N-00546_TP	23886011	201050502	47905920	17	15330											
IGFN1	0	.	GRCh38	chr1	201211788	201211788	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctgggaggaatccattaGggagcgaggcaggttctagg	9	9	17	6	1	2	0	0	0	2	0	3	4	3	3	1	6	1	3	1	6	3	4	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.6895G>C	p.Gly2299Arg	p.G2299R	ENST00000335211	12/24	224	180	44	195	195	0	varscan-mutect	IGFN1,missense_variant,p.Gly2299Arg,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,upstream_gene_variant,,ENST00000473483,;	C	ENST00000335211	Transcript	missense_variant	7025/11810	6895/11127	2299/3708	G/R	Ggg/Cgg		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1	tolerated(0.13)		12/24																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	49	201211788	201211788	G	C	1	0	0	0	0	1	0	0	0	7497	1000	35	4		4	IGFN1	1	201211788	Missense_Mutation	SNP	G	C3N-00546_TP	161286	201211788	47744634	18	15331											
LGR6	0	.	GRCh38	chr1	202319018	202319018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccctcatctcctgtcaGcagccaggggcccccaggct	6	7	11	17	0	3	1	2	1	1	0	4	1	3	1	5	3	2	2	5	3	0	0	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.2715G>T	p.Gln905His	p.Q905H	ENST00000367278	18/18	146	133	13	125	125	0	strelka-varscan-mutect	LGR6,missense_variant,p.Gln905His,ENST00000367278,NM_001017403.1;LGR6,missense_variant,p.Gln853His,ENST00000255432,NM_021636.2;LGR6,missense_variant,p.Gln766His,ENST00000439764,NM_001017404.1;LGR6,3_prime_UTR_variant,,ENST00000487787,;	T	ENST00000367278	Transcript	missense_variant	2804/3567	2715/2904	905/967	Q/H	caG/caT		1		1	LGR6	HGNC	HGNC:19719	protein_coding	YES	CCDS30971.1	ENSP00000356247	Q9HBX8		UPI0000161221	NM_001017403.1	tolerated(0.13)		18/18		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	49	202319018	202319018	G	T	1	0	0	0	0	1	0	0	0	8668	962	34	2		2	LGR6	1	202319018	Missense_Mutation	SNP	G	C3N-00546_TP	1107230	202319018	46637404	19	15332											
ESRRG	0	.	GRCh38	chr1	216568098	216568098	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtactctgtcaagacgcaccCctgtgagcaaagacaggcac	12	6	10	13	1	2	3	1	1	1	2	2	3	2	3	2	1	2	4	2	1	3	1	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.605G>C	p.Gly202Ala	p.G202A	ENST00000366937	5/8	219	196	23	198	198	0	strelka-varscan-mutect	ESRRG,missense_variant,p.Gly174Ala,ENST00000391890,NM_001243515.1,NM_001243519.1;ESRRG,missense_variant,p.Gly174Ala,ENST00000360012,NM_001243514.1;ESRRG,missense_variant,p.Gly202Ala,ENST00000366937,NM_001243518.1;ESRRG,missense_variant,p.Gly174Ala,ENST00000361525,NM_206594.2;ESRRG,missense_variant,p.Gly174Ala,ENST00000366940,NM_001134285.2,NM_001243511.2;ESRRG,missense_variant,p.Gly174Ala,ENST00000493603,NM_001243510.2;ESRRG,missense_variant,p.Gly174Ala,ENST00000366938,NM_001243513.1;ESRRG,missense_variant,p.Gly174Ala,ENST00000361395,;ESRRG,missense_variant,p.Gly197Ala,ENST00000408911,NM_001438.3;ESRRG,missense_variant,p.Gly174Ala,ENST00000359162,NM_206595.2,NM_001243506.1;ESRRG,missense_variant,p.Gly174Ala,ENST00000616180,;ESRRG,missense_variant,p.Gly135Ala,ENST00000463665,NM_001243507.1;ESRRG,missense_variant,p.Gly174Ala,ENST00000487276,NM_001243512.1;ESRRG,missense_variant,p.Gly174Ala,ENST00000493748,NM_001243509.1;ESRRG,missense_variant,p.Gly174Ala,ENST00000475275,;ESRRG,splice_region_variant,,ENST00000586199,;	G	ENST00000366937	Transcript	missense_variant,splice_region_variant	872/5365	605/1413	202/470	G/A	gGg/gCg		1		-1	ESRRG	HGNC	HGNC:3474	protein_coding	YES	CCDS58061.1	ENSP00000355904	P62508		UPI0000D4BFAB	NM_001243518.1	deleterious(0)		5/8		PROSITE_profiles:PS51030,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF21,PIRSF_domain:PIRSF500939,Gene3D:1.10.565.10,PIRSF_domain:PIRSF002527,Superfamily_domains:SSF57716,Superfamily_domains:SSF48508,Prints_domain:PR00398																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	49	216568098	216568098	C	G	1	0	0	0	0	1	0	0	0	5124	637	22	4		4	ESRRG	1	216568098	Missense_Mutation	SNP	C	C3N-00546_TP	14249080	216568098	32388324	20	15333											
PCNX2	0	.	GRCh38	chr1	233054371	233054371	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaaaataaagcaatcGccagagctgtagttgcccca	15	6	9	11	1	0	1	0	0	0	1	1	2	0	1	4	0	4	4	4	0	7	3	rs747167792		C3N-00546_TP	C3N-00546_NB	G	G																c.4248C>T	p.=	p.G1416G	ENST00000258229	25/34	549	491	58	465	465	0	strelka-varscan-mutect	PCNX2,synonymous_variant,p.=,ENST00000258229,NM_014801.3;PCNX2,synonymous_variant,p.=,ENST00000344698,;PCNX2,synonymous_variant,p.=,ENST00000462233,;PCNX2,non_coding_transcript_exon_variant,,ENST00000429988,;	A	ENST00000258229	Transcript	synonymous_variant	4483/7518	4248/6414	1416/2137	G	ggC/ggT	rs747167792,COSM4866367,COSM905657	1		-1	PCNX2	HGNC	HGNC:8736	protein_coding	YES	CCDS44335.1	ENSP00000258229	A6NKB5		UPI0000F58F23	NM_014801.3			25/34		hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs747167792	.												A	2	1	49	233054371	233054371	G	A	1	0	0	0	0	0	0	0	1	11680	1074	38	1		1	PCNX2	1	233054371	Silent	SNP	G	C3N-00546_TP	16486273	233054371	15902051	21	15334											
ZNF670	0	.	GRCh38	chr1	247038341	247038341	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccagtagaaactttcttaTtcagattcaaatttgaatcc	13	15	4	9	0	3	3	2	1	1	2	5	3	5	3	2	0	1	1	2	0	5	6	novel		C3N-00546_TP	C3N-00546_NB	T	T																c.278A>G	p.Asn93Ser	p.N93S	ENST00000366503	4/4	295	256	39	259	259	0	strelka-varscan-mutect	ZNF670,missense_variant,p.Asn93Ser,ENST00000366503,NM_001204220.1,NM_033213.4;ZNF670-ZNF695,intron_variant,,ENST00000474541,;ZNF670-ZNF695,intron_variant,,ENST00000465049,;RP11-551G24.2,upstream_gene_variant,,ENST00000439523,;	C	ENST00000366503	Transcript	missense_variant	437/1994	278/1170	93/389	N/S	aAt/aGt		1		-1	ZNF670	HGNC	HGNC:28167	protein_coding	YES	CCDS31087.1	ENSP00000355459	Q9BS34		UPI0000070EC3	NM_001204220.1,NM_033213.4	tolerated(0.1)		4/4		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF168,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	49	247038341	247038341	T	C	1	0	0	0	0	1	0	0	0	18651	1493	52	5		5	ZNF670	1	247038341	Missense_Mutation	SNP	T	C3N-00546_TP	13983970	247038341	1918081	22	15335											
OR2G2	0	.	GRCh38	chr1	247588874	247588874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctgcagctgcccttctGtgggcatcgccaagtggatc	6	9	11	15	1	1	0	0	0	1	0	3	1	1	1	3	2	3	3	3	2	1	1	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.515G>T	p.Cys172Phe	p.C172F	ENST00000320065	1/1	187	161	26	196	195	1	strelka-varscan-mutect	OR2G2,missense_variant,p.Cys172Phe,ENST00000320065,NM_001001915.1;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;	T	ENST00000320065	Transcript	missense_variant	515/954	515/954	172/317	C/F	tGt/tTt		1		1	OR2G2	HGNC	HGNC:15007	protein_coding	YES	CCDS31092.1	ENSP00000326349	Q8NGZ5		UPI0000061EB9	NM_001001915.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF132,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												T	3	4	49	247588874	247588874	G	T	1	0	0	0	0	1	0	0	0	11076	1377	48	2		2	OR2G2	1	247588874	Missense_Mutation	SNP	G	C3N-00546_TP	550533	247588874	1367548	23	15336											
OR14A2	0	.	GRCh38	chr1	247723212	247723212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaatactggaggcatcaCagtgtagatcacagaaagca	16	8	10	7	0	2	2	2	0	0	2	2	3	2	3	0	2	2	4	0	2	5	3	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.832G>A	p.Val278Met	p.V278M	ENST00000366485	1/1	318	269	49	291	291	0	strelka-varscan-mutect	OR14A2,missense_variant,p.Val278Met,ENST00000366485,;RP11-634B7.5,non_coding_transcript_exon_variant,,ENST00000426444,;RP11-634B7.4,intron_variant,,ENST00000449298,;RP11-634B7.5,intron_variant,,ENST00000419891,;	T	ENST00000366485	Transcript	missense_variant	832/945	832/945	278/314	V/M	Gtg/Atg		1		-1	OR14A2	HGNC	HGNC:15024	protein_coding	YES		ENSP00000355441	Q96R54	A0A126GWG8	UPI000004A5E7		tolerated(0.09)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF346,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												T	3	4	49	247723212	247723212	C	T	1	0	0	0	0	1	0	0	0	11022	478	17	3		3	OR14A2	1	247723212	Missense_Mutation	SNP	C	C3N-00546_TP	134338	247723212	1233210	24	15337											
TRAPPC12	0	.	GRCh38	chr2	3388030	3388030	+	Frame_Shift_Del	DEL	C	C	-																															ggccccgaggcaggacgcggCccgcgaggtcccaggcagcg																								novel		C3N-00546_TP	C3N-00546_NB	C	C																c.409delC	p.Arg137AlafsTer44	p.R137Afs*44	ENST00000324266	2/12	64	49	15	106	106	0	sindel-varindel-pindel	TRAPPC12,frameshift_variant,p.Arg137AlafsTer44,ENST00000324266,NM_016030.5;TRAPPC12,frameshift_variant,p.Arg137AlafsTer44,ENST00000382110,NM_001321102.1;TRAPPC12,upstream_gene_variant,,ENST00000441983,;TRAPPC12,upstream_gene_variant,,ENST00000457845,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000482645,;TRAPPC12,upstream_gene_variant,,ENST00000411973,;	-	ENST00000324266	Transcript	frameshift_variant	602/2508	407/2208	136/735	A/X	gCc/gc		1		1	TRAPPC12	HGNC	HGNC:24284	protein_coding	YES	CCDS1652.1	ENSP00000324318	Q8WVT3		UPI000014132D	NM_016030.5			2/12		hmmpanther:PTHR21581,hmmpanther:PTHR21581:SF6																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	49	3388030	3388030	C	-	1	0	1	0	1	0	0	0	0	16942	739	26	0		0	TRAPPC12	2	3388030	Frame_Shift_Del	DEL	C	C3N-00546_TP		3388030	238805499	25	15338											
C2orf16	0	.	GRCh38	chr2	27579471	27579471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagagacatactttttatCatggtcataagaaaagaatg	16	13	7	5	0	3	3	3	0	0	3	3	4	3	3	0	1	1	0	0	1	6	6	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.2899C>T	p.His967Tyr	p.H967Y	ENST00000408964	1/1	212	196	16	225	225	0	strelka-mutect	C2orf16,missense_variant,p.His967Tyr,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271289.1,NM_001271318.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271287.1,NM_001271288.1;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000379717,;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,;	T	ENST00000408964	Transcript	missense_variant	2950/6199	2899/5955	967/1984	H/Y	Cat/Tat		1		1	C2orf16	HGNC	HGNC:25275	protein_coding	YES	CCDS42666.1	ENSP00000386190	Q68DN1		UPI0000D61179	NM_032266.3	deleterious(0.03)		1/1		hmmpanther:PTHR33888																	MODERATE		SNV				1										PASS		.	.												T	3	4	49	27579471	27579471	C	T	1	0	0	0	0	1	0	0	0	2032	826	29	3		3	C2orf16	2	27579471	Missense_Mutation	SNP	C	C3N-00546_TP	24191441	27579471	214614058	26	15339											
NLRC4	0	.	GRCh38	chr2	32252610	32252610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatacaaataggtcatctGtgatttgctttataacagtc	12	15	6	8	0	2	1	1	1	1	0	4	1	3	1	1	1	3	1	1	1	5	6	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.71C>T	p.Thr24Ile	p.T24I	ENST00000404025	4/10	364	299	65	320	320	0	strelka-varscan-mutect	NLRC4,missense_variant,p.Thr24Ile,ENST00000404025,;NLRC4,missense_variant,p.Thr24Ile,ENST00000360906,NM_001199139.1,NM_021209.4;NLRC4,missense_variant,p.Thr24Ile,ENST00000402280,NM_001199138.1;NLRC4,missense_variant,p.Thr24Ile,ENST00000342905,NM_001302504.1;	A	ENST00000404025	Transcript	missense_variant	560/3581	71/3075	24/1024	T/I	aCa/aTa		1		-1	NLRC4	HGNC	HGNC:16412	protein_coding	YES	CCDS33174.1	ENSP00000385090	Q9NPP4		UPI0000126FAD		tolerated(0.2)		4/10		PROSITE_profiles:PS50209,hmmpanther:PTHR10044:SF104,hmmpanther:PTHR10044,Pfam_domain:PF00619,Gene3D:1.10.533.10,Superfamily_domains:SSF47986																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	49	32252610	32252610	G	A	1	0	0	0	0	1	0	0	0	10506	1377	48	3		3	NLRC4	2	32252610	Missense_Mutation	SNP	G	C3N-00546_TP	4673139	32252610	209940919	27	15340											
VIT	0	.	GRCh38	chr2	36754977	36754977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggaaggttgctggacagtCtggttacaaagggagttatt	10	12	14	5	1	1	0	0	0	1	0	2	3	1	3	0	5	2	4	0	5	4	4	rs777757329		C3N-00546_TP	C3N-00546_NB	C	C																c.332C>A	p.Ser111Tyr	p.S111Y	ENST00000379242	5/16	238	203	35	220	219	1	strelka-varscan-mutect	VIT,missense_variant,p.Ser111Tyr,ENST00000379242,NM_053276.3;VIT,missense_variant,p.Ser111Tyr,ENST00000389975,NM_001177969.1;VIT,missense_variant,p.Ser111Tyr,ENST00000379241,NM_001177971.1;VIT,missense_variant,p.Ser89Tyr,ENST00000404084,;VIT,missense_variant,p.Ser111Tyr,ENST00000401530,NM_001177970.1;VIT,missense_variant,p.Ser111Tyr,ENST00000457137,NM_001177972.1;VIT,5_prime_UTR_variant,,ENST00000497382,;	A	ENST00000379242	Transcript	missense_variant	634/2810	332/2082	111/693	S/Y	tCt/tAt	rs777757329	1		1	VIT	HGNC	HGNC:12697	protein_coding	YES	CCDS33180.1	ENSP00000368544	Q6UXI7		UPI000006E0F8	NM_053276.3	deleterious(0)		5/16		PROSITE_profiles:PS50820,hmmpanther:PTHR11132:SF107,hmmpanther:PTHR11132,Gene3D:1jbiA00,Pfam_domain:PF03815,SMART_domains:SM00603,Superfamily_domains:0039469																	MODERATE	1	SNV	2			1										PASS		rs777757329	.												A	3	1	49	36754977	36754977	C	A	1	0	0	0	0	1	0	0	0	17718	913	32	2		2	VIT	2	36754977	Missense_Mutation	SNP	C	C3N-00546_TP	4502367	36754977	205438552	28	15341											
BCL11A	0	.	GRCh38	chr2	60461118	60461118	+	Frame_Shift_Del	DEL	G	G	-																															cggccattaacagtgccatcGtctatgcggtccgactcgcc																								rs200644479		C3N-00546_TP	C3N-00546_NB	G	G																c.1794delC	p.Asp598GlufsTer32	p.D598Efs*32	ENST00000335712	4/4	72	58	14	82	82	0	sindel-varindel-pindel	BCL11A,frameshift_variant,p.Asp598GlufsTer32,ENST00000335712,NM_022893.3;BCL11A,frameshift_variant,p.Asp598GlufsTer32,ENST00000356842,NM_018014.3;BCL11A,frameshift_variant,p.Asp564GlufsTer32,ENST00000358510,;BCL11A,intron_variant,,ENST00000359629,NM_138559.1;BCL11A,intron_variant,,ENST00000489516,;BCL11A,upstream_gene_variant,,ENST00000479026,;BCL11A,non_coding_transcript_exon_variant,,ENST00000477659,;BCL11A,intron_variant,,ENST00000492272,;BCL11A,3_prime_UTR_variant,,ENST00000631857,;	-	ENST00000335712	Transcript	frameshift_variant	2022/5942	1794/2508	598/835	D/X	gaC/ga	rs200644479	1		-1	BCL11A	HGNC	HGNC:13221	protein_coding	YES	CCDS1862.1	ENSP00000338774	Q9H165	D6W5D9	UPI000013DC00	NM_022893.3			4/4		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	49	60461118	60461118	G	-	1	0	1	0	1	0	0	0	0	1510	1136	40	0		0	BCL11A	2	60461118	Frame_Shift_Del	DEL	G	C3N-00546_TP	23706141	60461118	181732411	29	15342											
ACTR3	0	.	GRCh38	chr2	113940069	113940069	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagtaggaatccctccAgaacaatccttggaaactgc	14	7	9	11	1	0	2	0	0	0	2	3	5	3	4	3	2	3	1	3	2	6	2	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.651A>G	p.=	p.P217P	ENST00000263238	7/12	177	156	21	280	280	0	strelka-varscan-mutect	ACTR3,synonymous_variant,p.=,ENST00000263238,NM_005721.4;ACTR3,synonymous_variant,p.=,ENST00000535589,NM_001277140.1;ACTR3,3_prime_UTR_variant,,ENST00000415792,;ACTR3,3_prime_UTR_variant,,ENST00000446821,;ACTR3,non_coding_transcript_exon_variant,,ENST00000484165,;	G	ENST00000263238	Transcript	synonymous_variant	971/6718	651/1257	217/418	P	ccA/ccG		1		1	ACTR3	HGNC	HGNC:170	protein_coding	YES	CCDS33277.1	ENSP00000263238	P61158	A0A024RAI1	UPI000000DA9A	NM_005721.4			7/12		Gene3D:3.90.640.10,Pfam_domain:PF00022,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF253,SMART_domains:SM00268,Superfamily_domains:SSF53067																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	49	113940069	113940069	A	G	1	0	0	0	0	0	0	0	1	255	175	7	5		5	ACTR3	2	113940069	Silent	SNP	A	C3N-00546_TP	53478951	113940069	128253460	30	15343											
SAP130	0	.	GRCh38	chr2	127955256	127955256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagggacggcaatggtagGctgatcattattttgattgg	9	13	15	4	1	1	2	1	2	0	0	1	4	1	4	0	6	0	3	0	6	3	5	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.2230C>T	p.Pro744Ser	p.P744S	ENST00000357702	16/21	141	104	37	131	130	1	strelka-varscan-mutect	SAP130,missense_variant,p.Pro744Ser,ENST00000357702,NM_001145928.1;SAP130,missense_variant,p.Pro717Ser,ENST00000259234,;SAP130,missense_variant,p.Pro709Ser,ENST00000259235,NM_024545.3;	A	ENST00000357702	Transcript	missense_variant	2362/4173	2230/3252	744/1083	P/S	Cct/Tct		1		-1	SAP130	HGNC	HGNC:29813	protein_coding	YES	CCDS54397.1	ENSP00000350333	Q9H0E3		UPI00005989D6	NM_001145928.1	tolerated_low_confidence(0.25)		16/21		Pfam_domain:PF16014,hmmpanther:PTHR13497,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	49	127955256	127955256	G	A	1	0	0	0	0	1	0	0	0	14091	1203	42	3		3	SAP130	2	127955256	Missense_Mutation	SNP	G	C3N-00546_TP	14015187	127955256	114238273	31	15344											
ZEB2	0	.	GRCh38	chr2	144399076	144399076	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttccagggatggggacCtggaatttgagtactggtag	8	13	14	6	0	1	1	0	1	1	0	2	4	2	4	2	5	1	2	2	5	3	5	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.2111G>C	p.Arg704Thr	p.R704T	ENST00000637267	9/11	172	140	32	174	174	0	strelka-varscan-mutect	ZEB2,missense_variant,p.Arg704Thr,ENST00000637267,;ZEB2,missense_variant,p.Arg729Thr,ENST00000636471,;ZEB2,missense_variant,p.Arg704Thr,ENST00000627532,NM_014795.3;ZEB2,missense_variant,p.Arg704Thr,ENST00000636026,;ZEB2,missense_variant,p.Arg592Thr,ENST00000638087,;ZEB2,missense_variant,p.Arg592Thr,ENST00000637304,;ZEB2,missense_variant,p.Arg592Thr,ENST00000638007,;ZEB2,missense_variant,p.Arg592Thr,ENST00000637045,;ZEB2,missense_variant,p.Arg592Thr,ENST00000636413,;ZEB2,missense_variant,p.Arg445Thr,ENST00000638128,;ZEB2,missense_variant,p.Arg704Thr,ENST00000409487,;ZEB2,missense_variant,p.Arg680Thr,ENST00000539609,NM_001171653.1;ZEB2,missense_variant,p.Arg704Thr,ENST00000558170,;ZEB2,missense_variant,p.Arg703Thr,ENST00000303660,;ZEB2,intron_variant,,ENST00000440875,;ZEB2,intron_variant,,ENST00000419938,;ZEB2,downstream_gene_variant,,ENST00000427902,;ZEB2,downstream_gene_variant,,ENST00000392861,;ZEB2,upstream_gene_variant,,ENST00000637873,;ZEB2,non_coding_transcript_exon_variant,,ENST00000636820,;ZEB2,non_coding_transcript_exon_variant,,ENST00000636179,;ZEB2,3_prime_UTR_variant,,ENST00000636732,;ZEB2,downstream_gene_variant,,ENST00000497268,;	G	ENST00000637267	Transcript	missense_variant	2952/9856	2111/3645	704/1214	R/T	aGg/aCg		1		-1	ZEB2	HGNC	HGNC:14881	protein_coding	YES	CCDS2186.1	ENSP00000490293			UPI00001359A2		tolerated(0.15)		9/11		hmmpanther:PTHR24391,hmmpanther:PTHR24391:SF11,Low_complexity_(Seg):seg,SMART_domains:SM00389																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	49	144399076	144399076	C	G	1	0	0	0	0	1	0	0	0	18200	681	24	4		4	ZEB2	2	144399076	Missense_Mutation	SNP	C	C3N-00546_TP	16443820	144399076	97794453	32	15345											
SRGAP3	0	.	GRCh38	chr3	9058386	9058386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgacatccagcccttcGtggcgagaggtctccaggtt	8	10	11	12	2	2	2	1	1	1	1	5	3	3	2	3	3	1	1	3	3	1	2	rs748814269		C3N-00546_TP	C3N-00546_NB	G	G																c.888C>T	p.=	p.H296H	ENST00000383836	7/22	314	259	55	275	275	0	strelka-varscan-mutect	SRGAP3,synonymous_variant,p.=,ENST00000383836,NM_014850.3;SRGAP3,synonymous_variant,p.=,ENST00000360413,NM_001033117.2;SRGAP3,synonymous_variant,p.=,ENST00000618999,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000433332,;SRGAP3,downstream_gene_variant,,ENST00000480750,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000485983,;SRGAP3,downstream_gene_variant,,ENST00000470951,;	A	ENST00000383836	Transcript	synonymous_variant	1316/8656	888/3300	296/1099	H	caC/caT	rs748814269	1		-1	SRGAP3	HGNC	HGNC:19744	protein_coding	YES	CCDS2572.1	ENSP00000373347	O43295		UPI0000074099	NM_014850.3			7/22		PROSITE_profiles:PS51741,hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF8,Superfamily_domains:SSF103657																	LOW	1	SNV	1			1										PASS		rs748814269	.												A	2	1	49	9058386	9058386	G	A	1	0	0	0	0	0	0	0	1	15508	1136	40	1		1	SRGAP3	3	9058386	Silent	SNP	G	C3N-00546_TP		9058386	189237173	33	15346											
SEC22C	0	.	GRCh38	chr3	42555960	42555960	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctacgaaaggaacaagAaaagccagaatgtttccaat	18	6	9	8	1	0	2	0	0	0	2	1	4	1	3	2	2	3	2	2	2	8	2	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.681T>C	p.=	p.F227F	ENST00000264454	6/7	161	136	25	174	174	0	strelka-varscan-mutect	SEC22C,synonymous_variant,p.=,ENST00000451653,;SEC22C,synonymous_variant,p.=,ENST00000273156,NM_004206.3;SEC22C,synonymous_variant,p.=,ENST00000417572,NM_001201572.1;SEC22C,synonymous_variant,p.=,ENST00000264454,NM_032970.3;SEC22C,synonymous_variant,p.=,ENST00000456515,;SEC22C,intron_variant,,ENST00000423701,NM_001201584.1;SEC22C,3_prime_UTR_variant,,ENST00000449617,;	G	ENST00000264454	Transcript	synonymous_variant	825/1380	681/912	227/303	F	ttT/ttC		1		-1	SEC22C	HGNC	HGNC:16828	protein_coding	YES	CCDS2700.1	ENSP00000264454	Q9BRL7	A0A024R2N5	UPI000006D0A7	NM_032970.3			6/7		hmmpanther:PTHR21136,hmmpanther:PTHR21136:SF2,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	49	42555960	42555960	A	G	1	0	0	0	0	0	0	0	1	14267	243	9	5		5	SEC22C	3	42555960	Silent	SNP	A	C3N-00546_TP	33497574	42555960	155739599	34	15347											
NBEAL2	0	.	GRCh38	chr3	46998144	46998144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtggcagctgagggcagCgggcccctcctgtacctact	6	7	14	14	1	0	1	0	1	0	0	1	1	1	1	4	4	4	4	4	4	2	2	rs139218926		C3N-00546_TP	C3N-00546_NB	C	C																c.3036C>G	p.Ser1012Arg	p.S1012R	ENST00000450053	21/54	278	238	40	181	181	0	strelka-varscan-mutect	NBEAL2,missense_variant,p.Ser1012Arg,ENST00000450053,NM_015175.2;NBEAL2,missense_variant,p.Ser484Arg,ENST00000416683,;NBEAL2,upstream_gene_variant,,ENST00000443829,;NBEAL2,upstream_gene_variant,,ENST00000475689,;	G	ENST00000450053	Transcript	missense_variant	3215/8827	3036/8265	1012/2754	S/R	agC/agG	rs139218926	1		1	NBEAL2	HGNC	HGNC:31928	protein_coding	YES	CCDS46817.1	ENSP00000415034	Q6ZNJ1		UPI000022C020	NM_015175.2	tolerated(0.05)		21/54		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF50,Pfam_domain:PF15787																	MODERATE	1	SNV	2			1										PASS		rs139218926	.												G	3	3	49	46998144	46998144	C	G	1	0	0	0	0	1	0	0	0	10200	767	27	4		4	NBEAL2	3	46998144	Missense_Mutation	SNP	C	C3N-00546_TP	4442184	46998144	151297415	35	15348											
SETD2	0	.	GRCh38	chr3	47120985	47120985	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttggaaagtggtctgttgCcaagacttatttgggacatc	9	15	11	6	0	1	1	0	0	1	1	2	3	1	3	1	3	1	1	1	3	3	5	rs761799105		C3N-00546_TP	C3N-00546_NB	C	C																c.3651G>A	p.Trp1217Ter	p.W1217*	ENST00000409792	3/21	207	170	37	166	166	0	strelka-varscan-mutect	SETD2,stop_gained,p.Trp1217Ter,ENST00000409792,NM_014159.6;SETD2,stop_gained,p.Trp1173Ter,ENST00000412450,;SETD2,stop_gained,p.Trp1089Ter,ENST00000330022,;SETD2,stop_gained,p.Trp935Ter,ENST00000431180,;SETD2,stop_gained,p.Trp851Ter,ENST00000445387,;	T	ENST00000409792	Transcript	stop_gained	3694/8142	3651/7695	1217/2564	W/*	tgG/tgA	rs761799105	1		-1	SETD2	HGNC	HGNC:18420	protein_coding	YES	CCDS2749.2	ENSP00000386759	Q9BYW2		UPI00017E10FB	NM_014159.6			3/21																			HIGH	1	SNV	5			1										PASS		rs761799105	.												T	4	4	49	47120985	47120985	C	T	1	0	0	0	0	0	1	0	0	14409	740	26	3		3	SETD2	3	47120985	Nonsense_Mutation	SNP	C	C3N-00546_TP	122841	47120985	151174574	36	15349											
DNAH1	0	.	GRCh38	chr3	52384960	52384960	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgccaagaaccgcatgAagagcggcctcgacaaggtg	14	4	12	11	3	0	3	0	1	0	2	1	4	0	3	3	2	4	1	3	2	5	0	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.8497A>T	p.Lys2833Ter	p.K2833*	ENST00000420323	53/78	126	103	23	112	112	0	strelka-varscan-mutect	DNAH1,stop_gained,p.Lys2833Ter,ENST00000420323,NM_015512.4;DNAH1,upstream_gene_variant,,ENST00000480649,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000488988,;DNAH1,upstream_gene_variant,,ENST00000490713,;	T	ENST00000420323	Transcript	stop_gained	8758/13104	8497/12798	2833/4265	K/*	Aag/Tag		1		1	DNAH1	HGNC	HGNC:2940	protein_coding	YES	CCDS46842.1	ENSP00000401514	Q9P2D7	A0A140VJI6	UPI00017EE9F6	NM_015512.4			53/78		Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	49	52384960	52384960	A	T	1	0	0	0	0	0	1	0	0	4410	247	9	4		4	DNAH1	3	52384960	Nonsense_Mutation	SNP	A	C3N-00546_TP	5263975	52384960	145910599	37	15350											
PDZRN3	0	.	GRCh38	chr3	73404293	73404293	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcgtgaacattttggtccTtggtgttcttctcaacacct	7	15	9	10	1	2	1	1	1	2	0	4	1	3	1	2	3	2	1	2	3	2	5	novel		C3N-00546_TP	C3N-00546_NB	T	T																c.1021A>T	p.Arg341Trp	p.R341W	ENST00000263666	4/10	301	265	36	302	302	0	strelka-varscan-mutect	PDZRN3,missense_variant,p.Arg341Trp,ENST00000263666,NM_015009.2;PDZRN3,missense_variant,p.Arg58Trp,ENST00000479530,NM_001303142.1;PDZRN3,missense_variant,p.Arg39Trp,ENST00000492909,NM_001303139.1;PDZRN3,5_prime_UTR_variant,,ENST00000462146,NM_001303141.1;PDZRN3,5_prime_UTR_variant,,ENST00000466780,NM_001303140.1;PDZRN3,upstream_gene_variant,,ENST00000494559,;PDZRN3,downstream_gene_variant,,ENST00000308537,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000498048,;PDZRN3,upstream_gene_variant,,ENST00000466348,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000477434,;PDZRN3,upstream_gene_variant,,ENST00000484487,;	A	ENST00000263666	Transcript	missense_variant	1136/4248	1021/3201	341/1066	R/W	Agg/Tgg		1		-1	PDZRN3	HGNC	HGNC:17704	protein_coding	YES	CCDS33789.1	ENSP00000263666	Q9UPQ7		UPI00001C1DE6	NM_015009.2	tolerated(0.13)		4/10		hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545,Gene3D:2.30.42.10,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	49	73404293	73404293	T	A	1	0	0	0	0	1	0	0	0	11797	1608	56	4		4	PDZRN3	3	73404293	Missense_Mutation	SNP	T	C3N-00546_TP	21019333	73404293	124891266	38	15351											
EPHA3	0	.	GRCh38	chr3	89413173	89413173	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctcaggacttatgttgacCcacatacatatgaagaccct	12	11	7	11	0	1	3	1	2	1	1	2	4	1	4	2	1	1	1	2	1	4	4	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.1795C>A	p.Pro599Thr	p.P599T	ENST00000336596	10/17	303	247	56	304	303	1	strelka-varscan-mutect	EPHA3,missense_variant,p.Pro599Thr,ENST00000336596,NM_005233.5;EPHA3,missense_variant,p.Pro599Thr,ENST00000494014,;	A	ENST00000336596	Transcript	missense_variant	2020/5809	1795/2952	599/983	P/T	Cca/Aca		1		1	EPHA3	HGNC	HGNC:3387	protein_coding	YES	CCDS2922.1	ENSP00000337451	P29320	A0A140VJJ0	UPI0000163BE4	NM_005233.5	deleterious(0.01)		10/17		hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666,Gene3D:3.30.200.20,Pfam_domain:PF14575																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	49	89413173	89413173	C	A	1	0	0	0	0	1	0	0	0	5015	623	22	2		2	EPHA3	3	89413173	Missense_Mutation	SNP	C	C3N-00546_TP	16008880	89413173	108882386	39	15352											
AC026348.1	0	.	GRCh38	chr3	113341877	113341877	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggccgaaatttcttccCtttttctattattgattctt	7	22	4	8	1	3	1	0	1	3	0	4	2	4	1	2	1	0	0	2	1	4	11	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.3304G>T	p.Gly1102Trp	p.G1102W	ENST00000393845	23/34	179	148	31	289	289	0	strelka-varscan-mutect	AC026348.1,missense_variant,p.Gly1102Trp,ENST00000393845,NM_001164496.1;CFAP44,missense_variant,p.Gly239Trp,ENST00000465636,;CFAP44,missense_variant,p.Arg114Met,ENST00000490481,;	A	ENST00000393845	Transcript	missense_variant	3304/5565	3304/5565	1102/1854	G/W	Ggg/Tgg		1		-1	AC026348.1	Clone_based_ensembl_gene		protein_coding	YES	CCDS54624.1	ENSP00000377428	Q96MT7		UPI0000367198	NM_001164496.1	deleterious(0.02)		23/34		hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	49	113341877	113341877	C	A	1	0	0	0	0	1	0	0	0	128	681	24	2		2	AC026348.1	3	113341877	Missense_Mutation	SNP	C	C3N-00546_TP	23928704	113341877	84953682	40	15353											
XRN1	0	.	GRCh38	chr3	142425523	142425523	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagatgttcatgtaacctgGccataaattcagttcctaaa	13	13	6	9	0	3	1	3	0	0	1	4	1	4	1	3	1	1	3	3	1	5	6	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.422C>G	p.Ala141Gly	p.A141G	ENST00000264951	4/42	155	134	21	160	160	0	strelka-varscan-mutect	XRN1,missense_variant,p.Ala141Gly,ENST00000264951,NM_019001.4;XRN1,missense_variant,p.Ala141Gly,ENST00000392981,NM_001282857.1;XRN1,missense_variant,p.Ala141Gly,ENST00000463916,NM_001282859.1;XRN1,missense_variant,p.Ala2Gly,ENST00000477237,;XRN1,non_coding_transcript_exon_variant,,ENST00000472697,;XRN1,intron_variant,,ENST00000486211,;XRN1,downstream_gene_variant,,ENST00000470537,;	C	ENST00000264951	Transcript	missense_variant	540/10143	422/5121	141/1706	A/G	gCc/gGc		1		-1	XRN1	HGNC	HGNC:30654	protein_coding	YES	CCDS3123.1	ENSP00000264951	Q8IZH2		UPI0000074113	NM_019001.4	deleterious(0.03)		4/42		hmmpanther:PTHR12341:SF7,hmmpanther:PTHR12341,Pfam_domain:PF03159																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	49	142425523	142425523	G	C	1	0	0	0	0	1	0	0	0	18017	1203	42	4		4	XRN1	3	142425523	Missense_Mutation	SNP	G	C3N-00546_TP	29083646	142425523	55870036	41	15354											
SI	0	.	GRCh38	chr3	165037978	165037978	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaatcctattttgtctgctGgaagatacatatcaacccgt	11	14	7	9	1	2	1	1	0	1	1	3	2	3	2	2	1	3	2	2	1	6	6	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.2348C>G	p.Pro783Arg	p.P783R	ENST00000264382	21/48	364	297	67	352	352	0	strelka-varscan-mutect	SI,missense_variant,p.Pro783Arg,ENST00000264382,NM_001041.3;	C	ENST00000264382	Transcript	missense_variant	2411/6011	2348/5484	783/1827	P/R	cCa/cGa		1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	deleterious(0)		21/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66,Pfam_domain:PF01055,Superfamily_domains:SSF51011																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	49	165037978	165037978	G	C	1	0	0	0	0	1	0	0	0	14561	1348	47	4		4	SI	3	165037978	Missense_Mutation	SNP	G	C3N-00546_TP	22612455	165037978	33257581	42	15355											
TBL1XR1	0	.	GRCh38	chr3	177051686	177051686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcattacggcatctatcaggGacagagactctattggtcga	11	10	11	9	2	3	1	1	0	2	1	4	4	3	2	0	3	1	2	0	3	3	4	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.245C>T	p.Ser82Phe	p.S82F	ENST00000430069	5/16	203	172	31	204	203	1	strelka-mutect	TBL1XR1,missense_variant,p.Ser82Phe,ENST00000430069,NM_001321193.1,NM_001321194.1,NM_001321195.1;TBL1XR1,missense_variant,p.Ser82Phe,ENST00000457928,NM_024665.4;TBL1XR1,missense_variant,p.Ser82Phe,ENST00000635794,;TBL1XR1,missense_variant,p.Ser79Phe,ENST00000630796,;TBL1XR1,missense_variant,p.Ser82Phe,ENST00000352800,;TBL1XR1,missense_variant,p.Ser82Phe,ENST00000422066,;TBL1XR1,missense_variant,p.Ser82Phe,ENST00000450267,;TBL1XR1,missense_variant,p.Ser82Phe,ENST00000626672,;TBL1XR1,missense_variant,p.Ser82Phe,ENST00000630833,;TBL1XR1,missense_variant,p.Ser82Phe,ENST00000437738,;TBL1XR1,missense_variant,p.Ser82Phe,ENST00000431674,;TBL1XR1,5_prime_UTR_variant,,ENST00000424913,;TBL1XR1,5_prime_UTR_variant,,ENST00000428970,;TBL1XR1,5_prime_UTR_variant,,ENST00000431421,;TBL1XR1,downstream_gene_variant,,ENST00000413084,;TBL1XR1,downstream_gene_variant,,ENST00000443315,;TBL1XR1,downstream_gene_variant,,ENST00000422442,;TBL1XR1,downstream_gene_variant,,ENST00000427349,;TBL1XR1-AS1,downstream_gene_variant,,ENST00000617758,;TBL1XR1-AS1,downstream_gene_variant,,ENST00000454723,;TBL1XR1,downstream_gene_variant,,ENST00000627825,;TBL1XR1,missense_variant,p.Ser82Phe,ENST00000631253,;TBL1XR1,upstream_gene_variant,,ENST00000637659,;	A	ENST00000430069	Transcript	missense_variant	505/7948	245/1545	82/514	S/F	tCc/tTc		1		-1	TBL1XR1	HGNC	HGNC:29529	protein_coding	YES	CCDS46961.1	ENSP00000405574	Q9BZK7		UPI0000136A71	NM_001321193.1,NM_001321194.1,NM_001321195.1	deleterious(0)		5/16		hmmpanther:PTHR22846,hmmpanther:PTHR22846:SF40																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	49	177051686	177051686	G	A	1	0	0	0	0	1	0	0	0	16045	1174	41	3		3	TBL1XR1	3	177051686	Missense_Mutation	SNP	G	C3N-00546_TP	12013708	177051686	21243873	43	15356											
HGFAC	0	.	GRCh38	chr4	3442073	3442073	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttcctcctcctcctcctGctgctgctgctgctgccacg	1	12	7	21	1	0	0	0	0	0	0	5	0	5	0	7	0	6	5	7	0	0	1	rs372137428		C3N-00546_TP	C3N-00546_NB	G	G																c.72G>C	p.=	p.L24L	ENST00000511533	1/15	51	47	4	101	100	1	varscan-mutect	HGFAC,synonymous_variant,p.=,ENST00000382774,NM_001528.3;HGFAC,synonymous_variant,p.=,ENST00000511533,NM_001297439.1;RGS12,downstream_gene_variant,,ENST00000344733,NM_198229.2;RGS12,downstream_gene_variant,,ENST00000336727,;RGS12,downstream_gene_variant,,ENST00000338806,NM_198227.1;RGS12,downstream_gene_variant,,ENST00000509772,;RGS12,downstream_gene_variant,,ENST00000504194,;HGFAC,upstream_gene_variant,,ENST00000509689,;HGFAC,upstream_gene_variant,,ENST00000506132,;	C	ENST00000511533	Transcript	synonymous_variant	99/2016	72/1989	24/662	L	ctG/ctC	rs372137428	1		1	HGFAC	HGNC	HGNC:4894	protein_coding	YES	CCDS75098.1	ENSP00000421801		D6RAR4	UPI0001D3B0DD	NM_001297439.1			1/15		Low_complexity_(Seg):seg,PIRSF_domain:PIRSF001146,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		rs372137428	.												C	2	2	49	3442073	3442073	G	C	1	0	0	0	0	0	0	0	1	6970	1306	46	4		4	HGFAC	4	3442073	Silent	SNP	G	C3N-00546_TP		3442073	186772482	44	15357											
CWH43	0	.	GRCh38	chr4	49007303	49007303	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctaaagtgcttttcagaaAgagtgaaaaatacatgaaac	18	11	7	5	0	2	4	1	2	1	2	2	4	2	4	0	0	3	1	0	0	7	5	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.1163A>T	p.Lys388Met	p.K388M	ENST00000226432	8/16	102	85	17	163	163	0	strelka-varscan-mutect	CWH43,missense_variant,p.Lys388Met,ENST00000226432,NM_025087.2;CWH43,missense_variant,p.Lys361Met,ENST00000513409,NM_001286791.1;CWH43,3_prime_UTR_variant,,ENST00000514053,;CWH43,non_coding_transcript_exon_variant,,ENST00000506221,;	T	ENST00000226432	Transcript	missense_variant	1346/2472	1163/2100	388/699	K/M	aAg/aTg		1		1	CWH43	HGNC	HGNC:26133	protein_coding	YES	CCDS3486.1	ENSP00000226432	Q9H720		UPI000020BC89	NM_025087.2	deleterious(0.03)		8/16		hmmpanther:PTHR14859,hmmpanther:PTHR14859:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	49	49007303	49007303	A	T	1	0	0	0	0	1	0	0	0	3883	72	3	4		4	CWH43	4	49007303	Missense_Mutation	SNP	A	C3N-00546_TP	45565230	49007303	141207252	45	15358											
KDR	0	.	GRCh38	chr4	55104946	55104946	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacacgctctcctgctcagTgggctgcatgtcaggttgca	7	10	12	12	1	3	1	2	0	1	1	4	1	3	1	1	2	3	6	1	2	0	1	novel		C3N-00546_TP	C3N-00546_NB	T	T																c.1684A>T	p.Thr562Ser	p.T562S	ENST00000263923	13/30	250	203	47	220	220	0	strelka-varscan-mutect	KDR,missense_variant,p.Thr562Ser,ENST00000263923,NM_002253.2;KDR,non_coding_transcript_exon_variant,,ENST00000512566,;	A	ENST00000263923	Transcript	missense_variant	1980/5831	1684/4071	562/1356	T/S	Act/Tct		1		-1	KDR	HGNC	HGNC:6307	protein_coding	YES	CCDS3497.1	ENSP00000263923	P35968	A0A024RD88	UPI000003AE04	NM_002253.2	deleterious(0.02)		13/30		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	49	55104946	55104946	T	A	1	0	0	0	0	1	0	0	0	8059	1696	59	4		4	KDR	4	55104946	Missense_Mutation	SNP	T	C3N-00546_TP	6097643	55104946	135109609	46	15359											
LIN54	0	.	GRCh38	chr4	82984409	82984409	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aattggtgaaccagacttgcCcaaagttgttaaaattaact	15	12	7	7	0	0	2	0	1	0	1	0	2	0	2	2	1	3	2	2	1	6	5	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.436G>T	p.Gly146Cys	p.G146C	ENST00000340417	2/13	217	171	46	262	262	0	strelka-varscan-mutect	LIN54,missense_variant,p.Gly146Cys,ENST00000340417,NM_194282.3;LIN54,missense_variant,p.Gly146Cys,ENST00000506560,NM_001288996.1;LIN54,missense_variant,p.Gly146Cys,ENST00000505397,;LIN54,intron_variant,,ENST00000442461,NM_001115008.2;LIN54,intron_variant,,ENST00000446851,NM_001288997.1;LIN54,intron_variant,,ENST00000510557,NM_001115007.2;LIN54,non_coding_transcript_exon_variant,,ENST00000509748,;LIN54,missense_variant,p.Gly146Cys,ENST00000508171,;LIN54,intron_variant,,ENST00000510877,;	A	ENST00000340417	Transcript	missense_variant	814/6127	436/2250	146/749	G/C	Ggc/Tgc		1		-1	LIN54	HGNC	HGNC:25397	protein_coding	YES	CCDS3599.1	ENSP00000341947	Q6MZP7	A0A024RDD8	UPI00001D75DE	NM_194282.3	deleterious(0)		2/13		hmmpanther:PTHR12446,hmmpanther:PTHR12446:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	49	82984409	82984409	C	A	1	0	0	0	0	1	0	0	0	8717	623	22	2		2	LIN54	4	82984409	Missense_Mutation	SNP	C	C3N-00546_TP	27879463	82984409	107230146	47	15360											
PDHA2	0	.	GRCh38	chr4	95841276	95841276	+	Missense_Mutation	SNP	C	C	T																															gtgattcatcttttgaagttCgtggtgcaaatccatggatc																								rs17024795		C3N-00546_TP	C3N-00546_NB	C	C																c.1126C>T	p.Arg376Cys	p.R376C	ENST00000295266	1/1	270	202	68	272	272	0	strelka-varscan-mutect	PDHA2,missense_variant,p.Arg376Cys,ENST00000295266,NM_005390.4;	T	ENST00000295266	Transcript	missense_variant	1258/1456	1126/1167	376/388	R/C	Cgt/Tgt	rs17024795,COSM177760	1		1	PDHA2	HGNC	HGNC:8807	protein_coding	YES	CCDS3644.1	ENSP00000295266	P29803		UPI0000130C31	NM_005390.4	deleterious(0.02)		1/1		hmmpanther:PTHR11516:SF27,hmmpanther:PTHR11516,Gene3D:3.40.50.970											0,1						MODERATE	1	SNV			0,1	1										PASS		rs17024795	.												T	3	4	49	95841276	95841276	C	T	1	0	0	0	0	1	0	0	0	11753	884	31	1		1	PDHA2	4	95841276	Missense_Mutation	SNP	C	C3N-00546_TP	12856867	95841276	94373279	48	15361	328	2									
PDHA2	0	.	GRCh38	chr4	95841277	95841277	+	Missense_Mutation	SNP	G	G	C																															tgattcatcttttgaagttcGtggtgcaaatccatggatca																								rs144027453		C3N-00546_TP	C3N-00546_NB	G	G																c.1127G>C	p.Arg376Pro	p.R376P	ENST00000295266	1/1	261	196	65	264	264	0	strelka-varscan-mutect	PDHA2,missense_variant,p.Arg376Pro,ENST00000295266,NM_005390.4;	C	ENST00000295266	Transcript	missense_variant	1259/1456	1127/1167	376/388	R/P	cGt/cCt	rs144027453	1		1	PDHA2	HGNC	HGNC:8807	protein_coding	YES	CCDS3644.1	ENSP00000295266	P29803		UPI0000130C31	NM_005390.4	deleterious(0.01)		1/1		hmmpanther:PTHR11516:SF27,hmmpanther:PTHR11516,Gene3D:3.40.50.970																	MODERATE	1	SNV				1										PASS		rs144027453	.												C	3	2	49	95841277	95841277	G	C	1	0	0	0	0	1	0	0	0	11753	1145	40	4		4	PDHA2	4	95841277	Missense_Mutation	SNP	G	C3N-00546_TP	1	95841277	94373278	49	15362	328	2									
SYNPO2	0	.	GRCh38	chr4	119057618	119057618	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatccaggaatccattgTggcaaatgtggtttcagcag	13	10	10	8	0	1	0	1	0	0	0	3	1	3	1	2	3	2	3	2	3	3	2	rs767516054		C3N-00546_TP	C3N-00546_NB	T	T																c.3470T>A	p.Val1157Glu	p.V1157E	ENST00000307142	5/5	176	143	33	197	197	0	strelka-varscan-mutect	SYNPO2,missense_variant,p.Val1157Glu,ENST00000307142,NM_133477.2;SYNPO2,missense_variant,p.Val1051Glu,ENST00000504178,;SYNPO2,missense_variant,p.Val1126Glu,ENST00000610556,NM_001286754.1;SYNPO2,3_prime_UTR_variant,,ENST00000448416,NM_001286755.1;	A	ENST00000307142	Transcript	missense_variant	3666/7295	3470/3786	1157/1261	V/E	gTg/gAg	rs767516054	1		1	SYNPO2	HGNC	HGNC:17732	protein_coding	YES	CCDS34054.1	ENSP00000306015	Q9UMS6		UPI00001D75EB	NM_133477.2	deleterious(0.01)		5/5																			MODERATE	1	SNV	1			1										PASS		rs767516054	.												A	3	1	49	119057618	119057618	T	A	1	0	0	0	0	1	0	0	0	15851	1696	59	4		4	SYNPO2	4	119057618	Missense_Mutation	SNP	T	C3N-00546_TP	23216341	119057618	71156937	50	15363											
DDX60	0	.	GRCh38	chr4	168255765	168255766	+	Frame_Shift_Ins	INS	-	-	CATG																															tcgaagtttgttagccatgaINScatgggcttctttatcagct																								novel		C3N-00546_TP	C3N-00546_NB	-	-																c.3499_3502dupCATG	p.Val1168AlafsTer5	p.V1168Afs*5	ENST00000393743	26/38	124	97	27	196	196	0	sindel-varindel-pindel	DDX60,frameshift_variant,p.Val1168AlafsTer5,ENST00000393743,NM_017631.5;DDX60,non_coding_transcript_exon_variant,,ENST00000505393,;	CATG	ENST00000393743	Transcript	frameshift_variant	3794-3795/6071	3502-3503/5139	1168/1712	V/ACX	gtc/gCATGtc		1		-1	DDX60	HGNC	HGNC:25942	protein_coding	YES	CCDS34097.1	ENSP00000377344	Q8IY21		UPI000020B6AB	NM_017631.5			26/38																			HIGH	1	insertion	1			1										PASS		.	.												CATG	7	5	49	168255765	168255765	-	CATG	1	0	1	1	0	0	0	0	0	4181	275	10	0		0	DDX60	4	168255765	Frame_Shift_Ins	INS	-	C3N-00546_TP	49198147	168255765	21958790	51	15364											
ADAMTS16	0	.	GRCh38	chr5	5242191	5242191	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctccgtgtcctgcggagggGgtaggtgccttccagtgctg	3	10	17	11	2	0	0	0	0	0	0	3	1	3	1	4	4	3	3	4	4	1	2	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.2662G>T	p.Gly888Ter	p.G888*	ENST00000274181	17/23	196	181	15	111	111	0	strelka-varscan-mutect	ADAMTS16,stop_gained,p.Gly888Ter,ENST00000274181,NM_139056.2;ADAMTS16,downstream_gene_variant,,ENST00000513709,;ADAMTS16,splice_region_variant,,ENST00000433402,;	T	ENST00000274181	Transcript	stop_gained,splice_region_variant	2800/4979	2662/3675	888/1224	G/*	Gga/Tga		1		1	ADAMTS16	HGNC	HGNC:17108	protein_coding	YES	CCDS43299.1	ENSP00000274181	Q8TE57		UPI00004572CA	NM_139056.2			17/23		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140,SMART_domains:SM00209																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	49	5242191	5242191	G	T	1	0	0	0	0	0	1	0	0	305	1246	43	2		2	ADAMTS16	5	5242191	Nonsense_Mutation	SNP	G	C3N-00546_TP		5242191	176296068	52	15365											
FTMT	0	.	GRCh38	chr5	121851992	121851992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcaggctcctctccaGgcacatcagcccttcgctgg	5	10	9	17	1	3	0	2	0	1	0	6	0	4	0	3	3	2	4	3	3	0	2	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.29G>T	p.Arg10Met	p.R10M	ENST00000321339	1/1	156	131	25	141	141	0	strelka-varscan-mutect	FTMT,missense_variant,p.Arg10Met,ENST00000321339,NM_177478.1;	T	ENST00000321339	Transcript	missense_variant	38/879	29/729	10/242	R/M	aGg/aTg		1		1	FTMT	HGNC	HGNC:17345	protein_coding	YES	CCDS4128.1	ENSP00000313691	Q8N4E7		UPI000006F87E	NM_177478.1	deleterious_low_confidence(0)		1/1																			MODERATE	1	SNV				1										PASS		rs1195599491	.												T	3	4	49	121851992	121851992	G	T	1	0	0	0	0	1	0	0	0	5959	1000	35	2		2	FTMT	5	121851992	Missense_Mutation	SNP	G	C3N-00546_TP	116609801	121851992	59686267	53	15366											
ATP10B	0	.	GRCh38	chr5	160607088	160607088	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatggattcacaggtctccTataaagaagcataataatac	16	10	8	7	0	2	1	1	0	1	1	3	3	2	3	1	3	2	1	1	3	7	6	novel		C3N-00546_TP	C3N-00546_NB	T	T																c.2839-2A>G		p.X947_splice	ENST00000327245		124	98	26	145	145	0	strelka-varscan-mutect	ATP10B,splice_acceptor_variant,,ENST00000327245,NM_025153.2;ATP10B,upstream_gene_variant,,ENST00000523758,;ATP10B,downstream_gene_variant,,ENST00000522169,;ATP10B,upstream_gene_variant,,ENST00000517815,;	C	ENST00000327245	Transcript	splice_acceptor_variant	-/7566	2839/4386	947/1461				1		-1	ATP10B	HGNC	HGNC:13543	protein_coding	YES	CCDS43394.1	ENSP00000313600	O94823		UPI0000191DAE	NM_025153.2				18/25																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	49	160607088	160607088	T	C	1	0	0	0	0	0	0	1	0	1269	1536	53	5		5	ATP10B	5	160607088	Splice_Site	SNP	T	C3N-00546_TP	38755096	160607088	20931171	54	15367											
TENM2	0	.	GRCh38	chr5	168125013	168125013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgacacgggcctctgcagCtgcgatcccaactggatggg	7	7	13	14	2	1	1	0	1	1	0	2	3	2	2	3	3	4	2	3	3	1	0	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.2172C>A	p.Ser724Arg	p.S724R	ENST00000518659	11/29	307	258	49	272	272	0	strelka-mutect	TENM2,missense_variant,p.Ser603Arg,ENST00000519204,;TENM2,missense_variant,p.Ser724Arg,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Ser492Arg,ENST00000520394,;CTB-178M22.1,intron_variant,,ENST00000517408,;CTB-105N12.2,upstream_gene_variant,,ENST00000624423,;	A	ENST00000518659	Transcript	missense_variant	2211/8550	2172/8325	724/2774	S/R	agC/agA		1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1	tolerated(0.4)		11/29		PROSITE_profiles:PS50026,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,PROSITE_patterns:PS00022,Gene3D:2gy5A03,SMART_domains:SM00181																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	49	168125013	168125013	C	A	1	0	0	0	0	1	0	0	0	16172	796	28	2		2	TENM2	5	168125013	Missense_Mutation	SNP	C	C3N-00546_TP	7517925	168125013	13413246	55	15368											
SLIT3	0	.	GRCh38	chr5	168753941	168753941	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgtcagcatcagctcCtgcacgctggctgctccatc	5	11	8	17	1	2	0	2	0	0	0	6	0	5	0	3	1	4	6	3	1	0	1	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.1752G>A	p.=	p.Q584Q	ENST00000332966	17/36	218	200	18	171	171	0	strelka-varscan-mutect	SLIT3,synonymous_variant,p.=,ENST00000519560,NM_003062.3;SLIT3,synonymous_variant,p.=,ENST00000404867,;SLIT3,synonymous_variant,p.=,ENST00000332966,NM_001271946.1;SLIT3,non_coding_transcript_exon_variant,,ENST00000519486,;	T	ENST00000332966	Transcript	synonymous_variant	1825/4895	1752/4593	584/1530	Q	caG/caA		1		-1	SLIT3	HGNC	HGNC:11087	protein_coding	YES	CCDS64311.1	ENSP00000332164	O75094		UPI0001E8F75D	NM_001271946.1			17/36		PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,SMART_domains:SM00368,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	49	168753941	168753941	C	T	1	0	0	0	0	0	0	0	1	15032	680	24	3		3	SLIT3	5	168753941	Silent	SNP	C	C3N-00546_TP	628928	168753941	12784318	56	15369											
FLT4	0	.	GRCh38	chr5	180620660	180620660	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggacccagaagaagacagcGatgacgccggtaccgacaag	15	2	13	11	4	0	4	0	1	0	3	0	7	0	5	3	2	2	1	3	2	4	1	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.2355C>T	p.=	p.I785I	ENST00000261937	16/30	464	378	86	355	355	0	strelka-varscan-mutect	FLT4,synonymous_variant,p.=,ENST00000261937,NM_182925.4;FLT4,synonymous_variant,p.=,ENST00000393347,NM_002020.4;FLT4,synonymous_variant,p.=,ENST00000502649,;FLT4,3_prime_UTR_variant,,ENST00000619105,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,downstream_gene_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;	A	ENST00000261937	Transcript	synonymous_variant	2434/5857	2355/4092	785/1363	I	atC/atT		1		-1	FLT4	HGNC	HGNC:3767	protein_coding	YES	CCDS4457.1	ENSP00000261937	P35916		UPI00001488E7	NM_182925.4			16/30		Transmembrane_helices:TMhelix,hmmpanther:PTHR24416:SF49,hmmpanther:PTHR24416																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	49	180620660	180620660	G	A	1	0	0	0	0	0	0	0	1	5800	1048	37	1		1	FLT4	5	180620660	Silent	SNP	G	C3N-00546_TP	11866719	180620660	917599	57	15370											
CUL9	0	.	GRCh38	chr6	43187070	43187070	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagcagctgtggagaagggGgcaggggctactgtgttggg	7	8	20	6	0	1	1	1	0	0	1	1	2	1	1	0	6	3	5	0	6	2	2	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.1362G>A	p.=	p.G454G	ENST00000252050	5/41	133	104	29	162	162	0	strelka-varscan-mutect	CUL9,synonymous_variant,p.=,ENST00000252050,NM_015089.3;CUL9,synonymous_variant,p.=,ENST00000372647,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,non_coding_transcript_exon_variant,,ENST00000510282,;CUL9,intron_variant,,ENST00000451399,;	A	ENST00000252050	Transcript	synonymous_variant	1446/7780	1362/7554	454/2517	G	ggG/ggA		1		1	CUL9	HGNC	HGNC:15982	protein_coding	YES	CCDS4890.1	ENSP00000252050	Q8IWT3		UPI000006F22F	NM_015089.3			5/41		hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771																	LOW	1	SNV	5			1										PASS		rs1200006447	.												A	2	1	49	43187070	43187070	G	A	1	0	0	0	0	0	0	0	1	3871	1219	43	3		3	CUL9	6	43187070	Silent	SNP	G	C3N-00546_TP		43187070	127618909	58	15371											
DST	0	.	GRCh38	chr6	56492337	56492338	+	Frame_Shift_Ins	INS	-	-	A																															agtagattcttgattagaacINSaacatcttgtttctgactaa																								novel		C3N-00546_TP	C3N-00546_NB	-	-																c.13875dupT	p.Val4626CysfsTer30	p.V4626Cfs*30	ENST00000312431	77/95	221	182	39	424	424	0	sindel-varindel-pindel	DST,frameshift_variant,p.Val6563CysfsTer30,ENST00000361203,;DST,frameshift_variant,p.Val4586CysfsTer30,ENST00000421834,NM_183380.3;DST,frameshift_variant,p.Val4626CysfsTer30,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,frameshift_variant,p.Val4477CysfsTer30,ENST00000370788,;DST,frameshift_variant,p.Val4260CysfsTer30,ENST00000244364,NM_015548.4;DST,downstream_gene_variant,,ENST00000340834,;DST,upstream_gene_variant,,ENST00000487754,;DST,downstream_gene_variant,,ENST00000459869,;	A	ENST00000312431	Transcript	frameshift_variant	14001-14002/17756	13875-13876/16614	4625-4626/5537	-/X	-/T		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1			77/95		hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966																	HIGH	1	insertion	5			1										PASS		.	.												A	7	5	49	56492337	56492337	-	A	1	0	1	1	0	0	0	0	0	4604	478	17	0		0	DST	6	56492337	Frame_Shift_Ins	INS	-	C3N-00546_TP	13305267	56492337	114313642	59	15372											
INTS1	0	.	GRCh38	chr7	1486637	1486637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctcaccttcatggccagCacgcgggaggccacctggga	8	5	12	16	2	2	0	2	0	0	0	2	2	2	2	5	4	1	1	5	4	0	1	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.2964G>A	p.=	p.V988V	ENST00000404767	22/48	221	189	32	100	100	0	strelka-varscan-mutect	INTS1,synonymous_variant,p.=,ENST00000404767,NM_001080453.2;INTS1,non_coding_transcript_exon_variant,,ENST00000468115,;	T	ENST00000404767	Transcript	synonymous_variant	3050/6959	2964/6573	988/2190	V	gtG/gtA		1		-1	INTS1	HGNC	HGNC:24555	protein_coding	YES	CCDS47526.1	ENSP00000385722	Q8N201		UPI0000D7211C	NM_001080453.2			22/48		hmmpanther:PTHR21224:SF1,hmmpanther:PTHR21224																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	49	1486637	1486637	C	T	1	0	0	0	0	0	0	0	1	7677	697	25	3		3	INTS1	7	1486637	Silent	SNP	C	C3N-00546_TP		1486637	157859336	60	15373											
AIMP2	0	.	GRCh38	chr7	6017901	6017901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgcacaggctgctctgtGagcacttcagggtcctgtcc	5	11	12	13	0	2	1	1	1	1	0	4	1	4	1	2	2	4	5	2	2	0	1			C3N-00546_TP	C3N-00546_NB	G	G																c.430G>A	p.Glu144Lys	p.E144K	ENST00000223029	3/4	463	256	207	320	319	1	strelka-varscan-mutect	AIMP2,missense_variant,p.Glu144Lys,ENST00000223029,NM_006303.3;AIMP2,missense_variant,p.Glu66Lys,ENST00000400479,;AIMP2,missense_variant,p.Glu75Lys,ENST00000395236,;EIF2AK1,downstream_gene_variant,,ENST00000199389,NM_001134335.1,NM_014413.3;SNORA42,downstream_gene_variant,,ENST00000384488,;AIMP2,downstream_gene_variant,,ENST00000415999,;	A	ENST00000223029	Transcript	missense_variant	549/1225	430/963	144/320	E/K	Gag/Aag	COSM5113509	1		1	AIMP2	HGNC	HGNC:20609	protein_coding	YES	CCDS5344.1	ENSP00000223029	Q13155	A0A024QZY1	UPI000012ED59	NM_006303.3	tolerated(0.13)		3/4		hmmpanther:PTHR13438,hmmpanther:PTHR13438:SF2											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	49	6017901	6017901	G	A	1	0	0	0	0	1	0	0	0	511	1291	45	3		3	AIMP2	7	6017901	Missense_Mutation	SNP	G	C3N-00546_TP	4531264	6017901	153328072	61	15374											
YAE1D1	0	.	GRCh38	chr7	39570609	39570609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcattttaaactatggacGactccgaggaacattgaggt	13	11	10	7	2	1	1	1	1	0	0	2	5	2	3	1	3	2	0	1	3	4	4	rs766403561		C3N-00546_TP	C3N-00546_NB	G	G																c.233G>A	p.Arg78Gln	p.R78Q	ENST00000223273	2/3	121	114	7	116	116	0	strelka-varscan-mutect	YAE1D1,missense_variant,p.Arg78Gln,ENST00000432096,NM_001282446.1;YAE1D1,missense_variant,p.Arg78Gln,ENST00000223273,NM_020192.4;YAE1D1,missense_variant,p.Arg78Gln,ENST00000448268,;AC011290.4,upstream_gene_variant,,ENST00000439751,;YAE1D1,downstream_gene_variant,,ENST00000469737,;YAE1D1,non_coding_transcript_exon_variant,,ENST00000485025,;YAE1D1,non_coding_transcript_exon_variant,,ENST00000474392,;AC011290.5,upstream_gene_variant,,ENST00000438427,;	A	ENST00000223273	Transcript	missense_variant	276/899	233/681	78/226	R/Q	cGa/cAa	rs766403561,COSM5233871,COSM601114	1		1	YAE1D1	HGNC	HGNC:24857	protein_coding	YES	CCDS5459.1	ENSP00000223273	Q9NRH1		UPI0000074023	NM_020192.4	tolerated(1)		2/3		Pfam_domain:PF09811,hmmpanther:PTHR18829,hmmpanther:PTHR18829:SF0											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs766403561	.												A	3	1	49	39570609	39570609	G	A	1	0	0	0	0	1	0	0	0	18024	1058	37	1		1	YAE1D1	7	39570609	Missense_Mutation	SNP	G	C3N-00546_TP	33552708	39570609	119775364	62	15375											
EGFR	0	.	GRCh38	chr7	55174014	55174014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaaaaagatcaaagtgctgGgctccggtgcgttcggcacg	10	8	13	10	4	2	1	2	0	0	1	4	1	3	1	1	3	2	4	1	3	3	1	rs28929495		C3N-00546_TP	C3N-00546_NB	G	G																c.2155G>A	p.Gly719Ser	p.G719S	ENST00000275493	18/28	609	353	256	368	368	0	strelka-varscan-mutect	EGFR,missense_variant,p.Gly719Ser,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Gly674Ser,ENST00000454757,;EGFR,missense_variant,p.Gly674Ser,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;	A	ENST00000275493	Transcript	missense_variant	2332/9821	2155/3633	719/1210	G/S	Ggc/Agc	rs28929495,COSM6252,COSM6253	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		18/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										likely_pathogenic,pathogenic,drug_response	0,1,1	1795663724712396					MODERATE	1	SNV	1		1,1,1	1										PASS		rs28929495	.												A	3	1	49	55174014	55174014	G	A	1	0	0	0	0	1	0	0	0	4803	1232	43	3		3	EGFR	7	55174014	Missense_Mutation	SNP	G	C3N-00546_TP	15603405	55174014	104171959	63	15376											
EGFR	0	.	GRCh38	chr7	55181312	55181312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcctacgtgatggccaGcgtggacaacccccacgtgt	9	6	13	13	3	0	1	0	1	0	0	0	3	0	3	4	3	4	0	4	3	3	1	rs121913465		C3N-00546_TP	C3N-00546_NB	G	G																c.2303G>T	p.Ser768Ile	p.S768I	ENST00000275493	20/28	399	225	174	262	262	0	strelka-varscan-mutect	EGFR,missense_variant,p.Ser768Ile,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ser723Ile,ENST00000454757,;EGFR,missense_variant,p.Ser723Ile,ENST00000455089,;EGFR-AS1,non_coding_transcript_exon_variant,,ENST00000442411,;	T	ENST00000275493	Transcript	missense_variant	2480/9821	2303/3633	768/1210	S/I	aGc/aTc	rs121913465,COSM12989,COSM291998,COSM6241	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		20/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										pathogenic	0,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs146024686	.												T	3	4	49	55181312	55181312	G	T	1	0	0	0	0	1	0	0	0	4803	971	34	2		2	EGFR	7	55181312	Missense_Mutation	SNP	G	C3N-00546_TP	7298	55181312	104164661	64	15377											
CADPS2	0	.	GRCh38	chr7	122491380	122491380	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcttgtggttcagacttcTtttctctataactgcacata	9	18	5	9	0	4	1	1	0	3	1	5	1	4	1	0	1	2	2	0	1	3	9	novel		C3N-00546_TP	C3N-00546_NB	T	T																c.1583A>G	p.Lys528Arg	p.K528R	ENST00000449022	10/30	190	99	91	183	183	0	strelka-varscan-mutect	CADPS2,missense_variant,p.Lys528Arg,ENST00000615869,;CADPS2,missense_variant,p.Lys422Arg,ENST00000313070,NM_001167940.1;CADPS2,missense_variant,p.Lys528Arg,ENST00000334010,;CADPS2,missense_variant,p.Lys528Arg,ENST00000412584,NM_001009571.3;CADPS2,missense_variant,p.Lys528Arg,ENST00000449022,NM_017954.10;CADPS2,missense_variant,p.Lys177Arg,ENST00000397721,;CADPS2,downstream_gene_variant,,ENST00000476131,;	C	ENST00000449022	Transcript	missense_variant	1603/4073	1583/3891	528/1296	K/R	aAg/aGg		1		-1	CADPS2	HGNC	HGNC:16018	protein_coding	YES	CCDS55158.1	ENSP00000398481	Q86UW7		UPI0000668808	NM_017954.10	tolerated(0.3)		10/30		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF7,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	49	122491380	122491380	T	C	1	0	0	0	0	1	0	0	0	2261	1609	56	5		5	CADPS2	7	122491380	Missense_Mutation	SNP	T	C3N-00546_TP	67310068	122491380	36854593	65	15378											
KMT2C	0	.	GRCh38	chr7	152224495	152224495	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtctaggcagtaggtgTgataacttatgtcacagtca	11	11	13	6	0	3	1	2	1	1	0	3	2	3	1	0	3	1	2	0	3	4	4	novel		C3N-00546_TP	C3N-00546_NB	T	T																c.3098A>T	p.His1033Leu	p.H1033L	ENST00000262189	19/59	262	133	129	184	184	0	strelka-varscan-mutect	KMT2C,missense_variant,p.His1033Leu,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.His1033Leu,ENST00000355193,;KMT2C,missense_variant,p.His189Leu,ENST00000418673,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;KMT2C,upstream_gene_variant,,ENST00000489110,;	A	ENST00000262189	Transcript	missense_variant	3317/16862	3098/14736	1033/4911	H/L	cAc/cTc		1		-1	KMT2C	HGNC	HGNC:13726	protein_coding	YES	CCDS5931.1	ENSP00000262189	Q8NEZ4		UPI0000141B9F	NM_170606.2	deleterious(0.02)		19/59		PROSITE_profiles:PS50016,hmmpanther:PTHR22884:SF373,hmmpanther:PTHR22884,Gene3D:3.30.40.10,Pfam_domain:PF00628,SMART_domains:SM00249,Superfamily_domains:SSF57903																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	49	152224495	152224495	T	A	1	0	0	0	0	1	0	0	0	8297	1696	59	4		4	KMT2C	7	152224495	Missense_Mutation	SNP	T	C3N-00546_TP	29733115	152224495	7121478	66	15379											
NEFM	0	.	GRCh38	chr8	24918195	24918195	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagaaagcgggaggagaGggaggaagtgaggaggaagg	16	1	23	1	1	0	3	0	1	0	2	0	10	0	8	0	8	1	0	0	8	4	0			C3N-00546_TP	C3N-00546_NB	G	G																c.2340G>C	p.Glu780Asp	p.E780D	ENST00000221166	3/3	255	188	67	252	252	0	strelka-varscan-mutect	NEFM,missense_variant,p.Glu780Asp,ENST00000221166,NM_005382.2;NEFM,missense_variant,p.Glu741Asp,ENST00000437366,;NEFM,missense_variant,p.Glu404Asp,ENST00000433454,NM_001105541.1;NEFM,intron_variant,,ENST00000518131,;GS1-72M22.1,upstream_gene_variant,,ENST00000607058,;NEFM,intron_variant,,ENST00000521540,;NEFM,downstream_gene_variant,,ENST00000523467,;	C	ENST00000221166	Transcript	missense_variant	3122/4020	2340/2751	780/916	E/D	gaG/gaC	COSM4536743	1		1	NEFM	HGNC	HGNC:7734	protein_coding	YES	CCDS6046.1	ENSP00000221166	P07197		UPI000013C7A9	NM_005382.2	deleterious_low_confidence(0.02)		3/3		Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	49	24918195	24918195	G	C	1	0	0	0	0	1	0	0	0	10344	991	35	4		4	NEFM	8	24918195	Missense_Mutation	SNP	G	C3N-00546_TP		24918195	120220441	67	15380											
CPNE3	0	.	GRCh38	chr8	86540272	86540272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaacttgaatcctgttTggaggcctttcaagatctct	12	13	7	9	0	2	2	1	1	1	1	4	3	3	3	2	2	2	1	2	2	5	3	novel		C3N-00546_TP	C3N-00546_NB	T	T																c.571T>C	p.Trp191Arg	p.W191R	ENST00000517490	8/17	160	142	18	137	137	0	strelka-varscan-mutect	CPNE3,missense_variant,p.Trp191Arg,ENST00000517490,NM_003909.4;CPNE3,missense_variant,p.Trp191Arg,ENST00000621783,;CPNE3,missense_variant,p.Trp80Arg,ENST00000517391,;CPNE3,upstream_gene_variant,,ENST00000517862,;	C	ENST00000517490	Transcript	missense_variant	734/4865	571/1614	191/537	W/R	Tgg/Cgg		1		1	CPNE3	HGNC	HGNC:2316	protein_coding	YES	CCDS6243.1	ENSP00000477590	O75131	A0A024R994	UPI0000127C13	NM_003909.4	deleterious(0)		8/17		PROSITE_profiles:PS50004,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF22,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	49	86540272	86540272	T	C	1	0	0	0	0	1	0	0	0	3608	1812	63	5		5	CPNE3	8	86540272	Missense_Mutation	SNP	T	C3N-00546_TP	61622077	86540272	58598364	68	15381											
KCNV1	0	.	GRCh38	chr8	109968408	109968408	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctggtctaatgtccccatAtcccacagtagtcatagagg	10	11	9	11	0	3	1	1	0	2	1	5	1	5	1	3	2	0	1	3	2	4	4	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.1183T>C	p.Tyr395His	p.Y395H	ENST00000524391	4/4	164	103	61	138	138	0	strelka-varscan-mutect	KCNV1,missense_variant,p.Tyr395His,ENST00000524391,;KCNV1,missense_variant,p.Tyr395His,ENST00000297404,NM_014379.2;	G	ENST00000524391	Transcript	missense_variant	2216/6979	1183/1503	395/500	Y/H	Tat/Cat		1		-1	KCNV1	HGNC	HGNC:18861	protein_coding	YES	CCDS6314.1	ENSP00000435954	Q6PIU1		UPI0000073DA5		deleterious(0)		4/4		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF38,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	49	109968408	109968408	A	G	1	0	0	0	0	1	0	0	0	8010	449	16	5		5	KCNV1	8	109968408	Missense_Mutation	SNP	A	C3N-00546_TP	23428136	109968408	35170228	69	15382											
CSMD3	0	.	GRCh38	chr8	112645123	112645123	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattaccttttccatgggttAcatcaacagtccatgtacaa	13	13	5	10	0	1	0	1	0	0	0	3	0	3	0	3	1	4	2	3	1	6	5	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.3296T>A	p.Val1099Glu	p.V1099E	ENST00000297405	20/71	452	381	71	409	409	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Val1099Glu,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Val1059Glu,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Val995Glu,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Val439Glu,ENST00000339701,;MIR2053,downstream_gene_variant,,ENST00000459295,;	T	ENST00000297405	Transcript	missense_variant	3541/13212	3296/11124	1099/3707	V/E	gTa/gAa		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		20/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	49	112645123	112645123	A	T	1	0	0	0	0	1	0	0	0	3747	391	14	4		4	CSMD3	8	112645123	Missense_Mutation	SNP	A	C3N-00546_TP	2676715	112645123	32493513	70	15383											
TG	0	.	GRCh38	chr8	132967873	132967873	+	Frame_Shift_Del	DEL	C	C	-																															tacttcacctgcaccctctaCccagaggcacaggtgtgtga																								novel		C3N-00546_TP	C3N-00546_NB	C	C																c.5768delC	p.Pro1923GlnfsTer19	p.P1923Qfs*19	ENST00000220616	31/48	611	544	67	364	364	0	sindel-varindel-pindel	TG,frameshift_variant,p.Pro1923GlnfsTer19,ENST00000220616,NM_003235.4;TG,frameshift_variant,p.Pro379GlnfsTer19,ENST00000519178,;TG,frameshift_variant,p.Pro77GlnfsTer19,ENST00000519543,;TG,frameshift_variant,p.Pro55GlnfsTer?,ENST00000518058,;TG,upstream_gene_variant,,ENST00000522523,;TG,upstream_gene_variant,,ENST00000524151,;TG,upstream_gene_variant,,ENST00000520197,;TG,upstream_gene_variant,,ENST00000519294,;TG,3_prime_UTR_variant,,ENST00000523756,;TG,upstream_gene_variant,,ENST00000520089,;TG,upstream_gene_variant,,ENST00000522797,;	-	ENST00000220616	Transcript	frameshift_variant	5806/8450	5766/8307	1922/2768	Y/X	taC/ta		1		1	TG	HGNC	HGNC:11764	protein_coding	YES	CCDS34944.1	ENSP00000220616	P01266		UPI000013C79F	NM_003235.4			31/48		PIRSF_domain:PIRSF001831																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	49	132967873	132967873	C	-	1	0	1	0	1	0	0	0	0	16246	518	18	0		0	TG	8	132967873	Frame_Shift_Del	DEL	C	C3N-00546_TP	20322750	132967873	12170763	71	15384											
WDR97	0	.	GRCh38	chr8	144115721	144115721	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttgggccccatcgacgcGctcaacttcttctgtgagca	7	10	10	14	3	3	1	1	1	2	0	4	3	3	1	2	1	2	2	2	1	1	3	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.4458G>T	p.=	p.A1486A	ENST00000323662	22/24	178	130	48	135	135	0	strelka-varscan-mutect	WDR97,synonymous_variant,p.=,ENST00000323662,;WDR97,downstream_gene_variant,,ENST00000533108,;WDR97,3_prime_UTR_variant,,ENST00000534167,;WDR97,non_coding_transcript_exon_variant,,ENST00000528691,;WDR97,non_coding_transcript_exon_variant,,ENST00000525150,;WDR97,non_coding_transcript_exon_variant,,ENST00000529209,;	T	ENST00000323662	Transcript	synonymous_variant	4483/6916	4458/4869	1486/1622	A	gcG/gcT		1		1	WDR97	HGNC	HGNC:26959	protein_coding	YES		ENSP00000320648	A6NE52		UPI000173AA02				22/24																			LOW	1	SNV	5			1										PASS		rs988078017	.												T	2	4	49	144115721	144115721	G	T	1	0	0	0	0	0	0	0	1	17897	1074	38	1		1	WDR97	8	144115721	Silent	SNP	G	C3N-00546_TP	11147848	144115721	1022915	72	15385											
CNTNAP3B	0	.	GRCh38	chr9	41929335	41929335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatctccgcggcagagcaGtggccccagtgtataatctg	9	9	11	12	2	2	1	0	0	2	1	3	1	2	1	3	2	1	3	3	2	3	3	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.2347C>T	p.=	p.L783L	ENST00000377561	15/24	230	157	73	168	168	0	strelka-varscan-mutect	CNTNAP3B,synonymous_variant,p.=,ENST00000612828,;CNTNAP3B,synonymous_variant,p.=,ENST00000377561,NM_001201380.2;CNTNAP3B,synonymous_variant,p.=,ENST00000489789,;CNTNAP3B,synonymous_variant,p.=,ENST00000619138,;CNTNAP3B,3_prime_UTR_variant,,ENST00000479351,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000618777,;	A	ENST00000377561	Transcript	synonymous_variant	2740/5379	2347/3867	783/1288	L	Ctg/Ttg		1		-1	CNTNAP3B	HGNC	HGNC:32035	protein_coding	YES	CCDS75836.1	ENSP00000478671		A0A087WUH3	UPI00043788D3	NM_001201380.2			15/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		rs1400239303	.												A	2	1	49	41929335	41929335	G	A	1	0	0	0	0	0	0	0	1	3430	1020	36	3		3	CNTNAP3B	9	41929335	Silent	SNP	G	C3N-00546_TP		41929335	96465382	73	15386											
ZNF658	0	.	GRCh38	chr9	66918313	66918313	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaggatgatgaatttagAaaaaactttgataaaatcac	19	12	7	3	0	1	4	1	3	0	1	1	5	1	5	0	1	1	1	0	1	8	5	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.747A>T	p.Arg249Ser	p.R249S	ENST00000612867	5/5	427	371	56	521	521	0	strelka-varscan-mutect	ZNF658,missense_variant,p.Arg249Ser,ENST00000612867,NM_001317916.1;ZNF658,missense_variant,p.Arg249Ser,ENST00000621410,NM_033160.5;ZNF658,missense_variant,p.Arg249Ser,ENST00000619925,;ZNF658,downstream_gene_variant,,ENST00000616544,;ZNF658,downstream_gene_variant,,ENST00000621015,;ZNF658,missense_variant,p.Arg249Ser,ENST00000622180,;	T	ENST00000612867	Transcript	missense_variant	1047/4160	747/3180	249/1059	R/S	agA/agT		1		1	ZNF658	HGNC	HGNC:25226	protein_coding	YES	CCDS75846.1	ENSP00000482540	Q5TYW1		UPI000046D388	NM_001317916.1	tolerated(0.47)		5/5																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	49	66918313	66918313	A	T	1	0	0	0	0	1	0	0	0	18642	243	9	4		4	ZNF658	9	66918313	Missense_Mutation	SNP	A	C3N-00546_TP	24988978	66918313	71476404	74	15387											
PRUNE2	0	.	GRCh38	chr9	76704786	76704786	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtcctatgtctccaccTgctggtaaatcagaattatc	9	13	9	10	0	2	1	1	0	1	1	5	1	3	1	3	3	1	2	3	3	5	3	novel		C3N-00546_TP	C3N-00546_NB	T	T																c.7488A>C	p.=	p.A2496A	ENST00000376718	8/19	60	51	9	57	57	0	strelka-varscan-mutect	PRUNE2,synonymous_variant,p.=,ENST00000376718,NM_015225.2;PRUNE2,synonymous_variant,p.=,ENST00000428286,;PRUNE2,synonymous_variant,p.=,ENST00000443509,NM_001308047.1,NM_001308048.1;PRUNE2,synonymous_variant,p.=,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	G	ENST00000376718	Transcript	synonymous_variant	7612/12584	7488/9267	2496/3088	A	gcA/gcC		1		-1	PRUNE2	HGNC	HGNC:25209	protein_coding	YES	CCDS47982.1	ENSP00000365908	Q8WUY3		UPI0001612CC0	NM_015225.2			8/19		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	49	76704786	76704786	T	G	1	0	0	0	0	0	0	0	1	12791	1567	55	5		5	PRUNE2	9	76704786	Silent	SNP	T	C3N-00546_TP	9786473	76704786	61689931	75	15388											
DENND1A	0	.	GRCh38	chr9	123383804	123383804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcgatgctggcagcccggtCagggggagctgggacagggc	6	5	20	10	2	1	0	1	0	0	0	2	3	1	2	1	6	3	3	1	6	0	0			C3N-00546_TP	C3N-00546_NB	C	C																c.1687G>A	p.Asp563Asn	p.D563N	ENST00000373624	21/22	349	281	68	341	341	0	strelka-varscan-mutect	DENND1A,missense_variant,p.Asp563Asn,ENST00000373624,NM_020946.1;DENND1A,non_coding_transcript_exon_variant,,ENST00000473039,;CRB2,downstream_gene_variant,,ENST00000460253,;	T	ENST00000373624	Transcript	missense_variant	1889/5010	1687/3030	563/1009	D/N	Gac/Aac	COSM4900301,COSM4900302	1		-1	DENND1A	HGNC	HGNC:29324	protein_coding	YES	CCDS35133.1	ENSP00000362727	Q8TEH3		UPI00004589D2	NM_020946.1	deleterious(0.01)		21/22		hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF22											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1243663517	.												T	3	4	49	123383804	123383804	C	T	1	0	0	0	0	1	0	0	0	4230	826	29	3		3	DENND1A	9	123383804	Missense_Mutation	SNP	C	C3N-00546_TP	46679018	123383804	15010913	76	15389											
ASS1	0	.	GRCh38	chr9	130466797	130466797	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgacctgatggagtacgcaAaggtatggccgagtctcccc	10	8	12	11	2	1	2	0	2	1	0	2	4	1	3	4	3	1	3	4	3	3	2	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.493A>G	p.Lys165Glu	p.K165E	ENST00000372394	7/16	401	368	33	365	365	0	strelka-varscan-mutect	ASS1,missense_variant,p.Lys165Glu,ENST00000372394,;ASS1,missense_variant,p.Lys165Glu,ENST00000352480,NM_054012.3;ASS1,missense_variant,p.Lys165Glu,ENST00000372393,NM_000050.4;ASS1,missense_variant,p.Lys165Glu,ENST00000422569,;ASS1,missense_variant,p.Lys146Glu,ENST00000443588,;ASS1,splice_region_variant,,ENST00000493984,;ASS1,splice_region_variant,,ENST00000467695,;	G	ENST00000372394	Transcript	missense_variant,splice_region_variant	974/1973	493/1239	165/412	K/E	Aag/Gag		1		1	ASS1	HGNC	HGNC:758	protein_coding	YES	CCDS6933.1	ENSP00000361471	P00966	Q5T6L4	UPI00000015D6		tolerated(0.51)		7/16		Gene3D:3.90.1260.10,HAMAP:MF_00005,Pfam_domain:PF00764,hmmpanther:PTHR11587,Superfamily_domains:SSF52402,TIGRFAM_domain:TIGR00032																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	49	130466797	130466797	A	G	1	0	0	0	0	1	0	0	0	1208	28	1	5		5	ASS1	9	130466797	Missense_Mutation	SNP	A	C3N-00546_TP	7082993	130466797	7927920	77	15390											
MRC1	0	.	GRCh38	chr10	17875189	17875189	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgcgcgagcgttttgcaAgaggaattttggtgatcttg	9	13	13	6	3	1	2	0	1	1	1	1	4	1	3	0	2	3	2	0	2	3	5	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.2486A>T	p.Lys829Met	p.K829M	ENST00000569591	17/30	503	407	96	502	501	1	strelka-varscan-mutect	MRC1,missense_variant,p.Lys829Met,ENST00000569591,NM_002438.3;	T	ENST00000569591	Transcript	missense_variant	2608/5198	2486/4371	829/1456	K/M	aAg/aTg		1		1	MRC1	HGNC	HGNC:7228	protein_coding	YES	CCDS7123.2	ENSP00000455897	P22897		UPI000012EB9A	NM_002438.3	deleterious(0.01)		17/30		PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF73,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	49	17875189	17875189	A	T	1	0	0	0	0	1	0	0	0	9722	72	3	4		4	MRC1	10	17875189	Missense_Mutation	SNP	A	C3N-00546_TP		17875189	115922233	78	15391											
RPL27A	0	.	GRCh38	chr11	8685741	8685743	+	In_Frame_Del	DEL	TTC	TTC	-																															ctgtcatcgtgaaggccaaaTtcttcagcagaagagctgag																								novel		C3N-00546_TP	C3N-00546_NB	TTC	TTC																c.385_387delTTC	p.Phe129del	p.F129del	ENST00000314138	5/5	271	218	53	252	252	0	sindel-varindel-pindel	RPL27A,inframe_deletion,p.Phe129del,ENST00000314138,NM_000990.4;RPL27A,inframe_deletion,p.Phe72del,ENST00000530022,;RPL27A,inframe_deletion,p.Phe72del,ENST00000530913,;RPL27A,inframe_deletion,p.Phe72del,ENST00000524496,;RPL27A,inframe_deletion,p.Phe72del,ENST00000526562,;RPL27A,inframe_deletion,p.Phe94del,ENST00000532359,;RPL27A,3_prime_UTR_variant,,ENST00000525981,;RPL27A,downstream_gene_variant,,ENST00000531978,;SNORA3B,downstream_gene_variant,,ENST00000391305,;SNORA3A,downstream_gene_variant,,ENST00000364113,;RP11-152H18.4,downstream_gene_variant,,ENST00000534169,;RPL27A,upstream_gene_variant,,ENST00000531102,;RPL27A,3_prime_UTR_variant,,ENST00000534599,;RPL27A,downstream_gene_variant,,ENST00000529227,;RPL27A,downstream_gene_variant,,ENST00000530585,;	-	ENST00000314138	Transcript	inframe_deletion	785-787/4916	382-384/447	128/148	F/-	TTC/-		1		1	RPL27A	HGNC	HGNC:10329	protein_coding	YES	CCDS7790.1	ENSP00000346015	P46776		UPI0000161BF5	NM_000990.4			5/5		Gene3D:3.100.10.10,HAMAP:MF_01341,Pfam_domain:PF00828,PROSITE_patterns:PS00475,hmmpanther:PTHR11721,Superfamily_domains:SSF52080																	MODERATE	1	deletion	1	3		1										PASS		.	.												-	7	5	49	8685741	8685741	TTC	-	1	0	1	0	1	0	0	0	0	13828	1493	52	0		0	RPL27A	11	8685741	In_Frame_Del	DEL	TTC	C3N-00546_TP		8685741	126400881	79	15392											
ANO3	0	.	GRCh38	chr11	26634247	26634247	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaaacagcttcgccctGaagatgttcctcttccagtt	9	12	9	11	1	1	2	0	1	1	1	4	3	3	3	3	1	2	3	3	1	3	4			C3N-00546_TP	C3N-00546_NB	G	G																c.1917G>T	p.=	p.L639L	ENST00000256737	19/27	241	206	35	169	169	0	strelka-varscan-mutect	ANO3,synonymous_variant,p.=,ENST00000256737,NM_031418.2;ANO3,synonymous_variant,p.=,ENST00000525139,;ANO3,synonymous_variant,p.=,ENST00000531568,;	T	ENST00000256737	Transcript	synonymous_variant	2769/6642	1917/2946	639/981	L	ctG/ctT	COSM5349670	1		1	ANO3	HGNC	HGNC:14004	protein_coding	YES	CCDS31447.1	ENSP00000256737	Q9BYT9		UPI00001F9ED8	NM_031418.2			19/27		Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF16											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	49	26634247	26634247	G	T	1	0	0	0	0	0	0	0	1	805	1277	45	2		2	ANO3	11	26634247	Silent	SNP	G	C3N-00546_TP	17948506	26634247	108452375	80	15393											
KIAA1549L	0	.	GRCh38	chr11	33559895	33559895	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctacctcacctatccgccGctaaccattgctgaacgtga	9	11	6	15	3	2	2	1	2	1	0	3	2	3	2	5	0	4	2	5	0	4	5			C3N-00546_TP	C3N-00546_NB	G	G																c.3111G>A	p.=	p.P1037P	ENST00000321505	6/20	127	117	10	108	108	0	strelka-varscan-mutect	KIAA1549L,synonymous_variant,p.=,ENST00000321505,NM_012194.2;KIAA1549L,synonymous_variant,p.=,ENST00000265654,;KIAA1549L,synonymous_variant,p.=,ENST00000526400,;	A	ENST00000321505	Transcript	synonymous_variant	3291/11678	3111/5550	1037/1849	P	ccG/ccA	COSM3869100,COSM3869101	1		1	KIAA1549L	HGNC	HGNC:24836	protein_coding	YES	CCDS44565.2	ENSP00000315295	Q6ZVL6		UPI0000E59322	NM_012194.2			6/20		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3,Pfam_domain:PF12877											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1243221356	.												A	2	1	49	33559895	33559895	G	A	1	0	0	0	0	0	0	0	1	8121	1074	38	1		1	KIAA1549L	11	33559895	Silent	SNP	G	C3N-00546_TP	6925648	33559895	101526727	81	15394											
OR1S2	0	.	GRCh38	chr11	58203562	58203562	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacaacacaagctcattgAtcattgtatctgaacaggac	16	10	6	9	0	3	2	2	2	1	0	3	3	3	3	0	1	4	2	0	1	6	4	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.620T>A	p.Ile207Asn	p.I207N	ENST00000302592	1/1	352	303	49	327	327	0	strelka-varscan-mutect	OR1S2,missense_variant,p.Ile207Asn,ENST00000302592,NM_001004459.1;	T	ENST00000302592	Transcript	missense_variant	620/980	620/978	207/325	I/N	aTc/aAc		1		-1	OR1S2	HGNC	HGNC:15141	protein_coding	YES	CCDS31545.1	ENSP00000305469	Q8NGQ3		UPI0000041D68	NM_001004459.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF180,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	49	58203562	58203562	A	T	1	0	0	0	0	1	0	0	0	11050	333	12	4		4	OR1S2	11	58203562	Missense_Mutation	SNP	A	C3N-00546_TP	24643667	58203562	76883060	82	15395											
INCENP	0	.	GRCh38	chr11	62146822	62146822	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcgcgagcaggagcggcgGgagcaggagcggcgcgagca	8	0	22	11	8	0	0	0	0	0	0	0	5	0	3	0	6	5	3	0	6	0	0	rs374721937		C3N-00546_TP	C3N-00546_NB	G	G																c.2124G>C	p.=	p.R708R	ENST00000394818	15/19	336	296	40	426	426	0	strelka-varscan-mutect	INCENP,synonymous_variant,p.=,ENST00000394818,NM_001040694.1;INCENP,synonymous_variant,p.=,ENST00000278849,NM_020238.2;	C	ENST00000394818	Transcript	synonymous_variant	2326/3964	2124/2757	708/918	R	cgG/cgC	rs374721937,COSM4878475	1		1	INCENP	HGNC	HGNC:6058	protein_coding	YES	CCDS44624.1	ENSP00000378295	Q9NQS7		UPI0000D7D6F3	NM_001040694.1			15/19		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13142:SF1,hmmpanther:PTHR13142											0,1						LOW	1	SNV	1		0,1	1										PASS		rs374721937	.												C	2	2	49	62146822	62146822	G	C	1	0	0	0	0	0	0	0	1	7635	1219	43	4		4	INCENP	11	62146822	Silent	SNP	G	C3N-00546_TP	3943260	62146822	72939800	83	15396											
GAL3ST3	0	.	GRCh38	chr11	66042940	66042940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtccagggcgttccaggtgCgcgccgcccgcgccagcgcc	3	4	15	19	8	0	0	0	0	0	0	2	0	2	0	6	2	2	1	6	2	0	1	rs745551285		C3N-00546_TP	C3N-00546_NB	C	C																c.863G>A	p.Arg288His	p.R288H	ENST00000312006	3/3	29	20	9	54	54	0	strelka-varscan-mutect	GAL3ST3,missense_variant,p.Arg288His,ENST00000312006,NM_033036.2;GAL3ST3,missense_variant,p.Arg288His,ENST00000527878,;GAL3ST3,downstream_gene_variant,,ENST00000527048,;	T	ENST00000312006	Transcript	missense_variant	1145/2133	863/1296	288/431	R/H	cGc/cAc	rs745551285,COSM1605054,COSM5434363	1		-1	GAL3ST3	HGNC	HGNC:24144	protein_coding	YES	CCDS8128.1	ENSP00000308591	Q96A11		UPI0000071842	NM_033036.2	deleterious(0)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR14647:SF1,hmmpanther:PTHR14647,Pfam_domain:PF06990											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs745551285	.												T	3	4	49	66042940	66042940	C	T	1	0	0	0	0	1	0	0	0	6067	768	27	1		1	GAL3ST3	11	66042940	Missense_Mutation	SNP	C	C3N-00546_TP	3896118	66042940	69043682	84	15397											
ALDH3B1	0	.	GRCh38	chr11	68028096	68028096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctccctcctgggtcttcCctctccctgcctcagcctcc	1	12	5	23	0	3	0	1	0	2	0	9	0	8	0	8	1	2	0	8	1	0	1	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.649C>T	p.Pro217Ser	p.P217S	ENST00000615463	8/8	265	219	46	189	189	0	strelka-varscan-mutect	ALDH3B1,missense_variant,p.Pro217Ser,ENST00000615463,;ALDH3B1,3_prime_UTR_variant,,ENST00000342456,NM_001290059.1,NM_000694.3;ALDH3B1,3_prime_UTR_variant,,ENST00000614849,NM_001161473.2;ALDH3B1,3_prime_UTR_variant,,ENST00000617288,NM_001030010.2;ALDH3B1,3_prime_UTR_variant,,ENST00000612297,NM_001290058.1;NDUFS8,upstream_gene_variant,,ENST00000313468,NM_002496.3;NDUFS8,upstream_gene_variant,,ENST00000526339,;NDUFS8,upstream_gene_variant,,ENST00000453471,;ALDH3B1,downstream_gene_variant,,ENST00000527514,;NDUFS8,upstream_gene_variant,,ENST00000525419,;NDUFS8,upstream_gene_variant,,ENST00000525628,;NDUFS8,upstream_gene_variant,,ENST00000528492,;NDUFS8,upstream_gene_variant,,ENST00000621222,;RP5-901A4.1,intron_variant,,ENST00000532296,;ALDH3B1,3_prime_UTR_variant,,ENST00000619675,;ALDH3B1,non_coding_transcript_exon_variant,,ENST00000615368,;NDUFS8,upstream_gene_variant,,ENST00000532399,;NDUFS8,upstream_gene_variant,,ENST00000432321,;NDUFS8,upstream_gene_variant,,ENST00000526446,;NDUFS8,upstream_gene_variant,,ENST00000531796,;NDUFS8,upstream_gene_variant,,ENST00000529645,;NDUFS8,upstream_gene_variant,,ENST00000531228,;	T	ENST00000615463	Transcript	missense_variant	720/1300	649/693	217/230	P/S	Cct/Tct		1		1	ALDH3B1	HGNC	HGNC:410	protein_coding			ENSP00000479948		Q9BUJ8	UPI0000073A88		deleterious_low_confidence(0)		8/8		Low_complexity_(Seg):seg																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	49	68028096	68028096	C	T	1	0	0	0	0	1	0	0	0	599	623	22	3		3	ALDH3B1	11	68028096	Missense_Mutation	SNP	C	C3N-00546_TP	1985156	68028096	67058526	85	15398											
MYO7A	0	.	GRCh38	chr11	77158331	77158331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggagtacgccaacatcCgctccgccatgaaggtgctc	9	6	11	15	3	0	1	0	1	0	0	3	2	2	2	5	2	3	3	5	2	3	1	rs781922871		C3N-00546_TP	C3N-00546_NB	C	C																c.904C>T	p.Arg302Cys	p.R302C	ENST00000409709	9/49	155	133	22	100	100	0	strelka-varscan-mutect	MYO7A,missense_variant,p.Arg302Cys,ENST00000409709,NM_000260.3;MYO7A,missense_variant,p.Arg302Cys,ENST00000458637,NM_001127180.1;MYO7A,missense_variant,p.Arg291Cys,ENST00000409619,;MYO7A,missense_variant,p.Arg302Cys,ENST00000409893,NM_001127179.2;MYO7A,missense_variant,p.Arg302Cys,ENST00000620575,;	T	ENST00000409709	Transcript	missense_variant	1176/7462	904/6648	302/2215	R/C	Cgc/Tgc	rs781922871,COSM117062	1		1	MYO7A	HGNC	HGNC:7606	protein_coding	YES	CCDS53683.1	ENSP00000386331	Q13402		UPI00001FAFE6	NM_000260.3	tolerated(0.09)		9/49		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF369,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs781922871	.												T	3	4	49	77158331	77158331	C	T	1	0	0	0	0	1	0	0	0	10083	652	23	1		1	MYO7A	11	77158331	Missense_Mutation	SNP	C	C3N-00546_TP	9130235	77158331	57928291	86	15399											
AKAP3	0	.	GRCh38	chr12	4627839	4627839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcttttcacagccgagaCaaactgtgtgtcagtcatga	11	12	9	9	1	4	2	3	1	1	1	4	3	4	2	1	0	2	1	1	0	1	3	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.1063G>T	p.Val355Phe	p.V355F	ENST00000228850	5/6	209	168	41	248	247	1	strelka-varscan-mutect	AKAP3,missense_variant,p.Val355Phe,ENST00000228850,NM_001278309.1;AKAP3,missense_variant,p.Val355Phe,ENST00000545990,NM_006422.3;AKAP3,downstream_gene_variant,,ENST00000540967,;AKAP3,downstream_gene_variant,,ENST00000536414,;RP11-500M8.7,intron_variant,,ENST00000536588,;	A	ENST00000228850	Transcript	missense_variant	1610/3339	1063/2562	355/853	V/F	Gtc/Ttc		1		-1	AKAP3	HGNC	HGNC:373	protein_coding	YES	CCDS8531.1	ENSP00000228850	O75969	V9HWD4	UPI000013C8DF	NM_001278309.1	deleterious(0.02)		5/6		Pfam_domain:PF05716,hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF9,SMART_domains:SM00807																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	49	4627839	4627839	C	A	1	0	0	0	0	1	0	0	0	536	478	17	2		2	AKAP3	12	4627839	Missense_Mutation	SNP	C	C3N-00546_TP		4627839	128647470	87	15400											
NOS1	0	.	GRCh38	chr12	117222781	117222781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacccccttgttcttggcCtgcagggtctcttccctgta	5	13	9	14	0	2	1	0	0	2	1	4	1	3	1	4	2	1	3	4	2	2	5	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.4011G>T	p.Gln1337His	p.Q1337H	ENST00000618760	27/30	159	140	19	195	195	0	strelka-varscan-mutect	NOS1,missense_variant,p.Gln1337His,ENST00000618760,NM_001204218.1;NOS1,missense_variant,p.Gln1303His,ENST00000317775,NM_001204214.1,NM_000620.4,NM_001204213.1;NOS1,missense_variant,p.Gln1337His,ENST00000338101,;NOS1,missense_variant,p.Gln1302His,ENST00000344089,;	A	ENST00000618760	Transcript	missense_variant	4722/12283	4011/4407	1337/1468	Q/H	caG/caT		1		-1	NOS1	HGNC	HGNC:7872	protein_coding	YES	CCDS55890.1	ENSP00000477999	P29475		UPI00001FBC10	NM_001204218.1	tolerated(0.11)		27/30		hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63,Pfam_domain:PF00175,Gene3D:3.40.50.80,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF52343,Prints_domain:PR00371																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	49	117222781	117222781	C	A	1	0	0	0	0	1	0	0	0	10586	680	24	2		2	NOS1	12	117222781	Missense_Mutation	SNP	C	C3N-00546_TP	112594942	117222781	16052528	88	15401											
SETD1B	0	.	GRCh38	chr12	121827784	121827784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagccacattcacgactgggGcttgttcgccatggagccca	8	8	12	13	2	1	0	1	0	0	0	2	3	1	1	3	3	2	2	3	3	0	3	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.5390G>T	p.Gly1797Val	p.G1797V	ENST00000542440	16/18	323	256	67	307	307	0	strelka-varscan-mutect	SETD1B,missense_variant,p.Gly1797Val,ENST00000542440,NM_015048.1;SETD1B,missense_variant,p.Gly1840Val,ENST00000604567,;SETD1B,missense_variant,p.Gly1840Val,ENST00000619791,;SETD1B,missense_variant,p.Gly1797Val,ENST00000267197,;	T	ENST00000542440	Transcript	missense_variant	5458/8185	5390/5772	1797/1923	G/V	gGc/gTc		1		1	SETD1B	HGNC	HGNC:29187	protein_coding	YES	CCDS53838.1	ENSP00000442924	Q9UPS6		UPI00006C12ED	NM_015048.1	deleterious(0)		16/18		Gene3D:2.170.270.10,Pfam_domain:PF00856,PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF296,SMART_domains:SM00317,Superfamily_domains:SSF82199																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	49	121827784	121827784	G	T	1	0	0	0	0	1	0	0	0	14408	1203	42	2		2	SETD1B	12	121827784	Missense_Mutation	SNP	G	C3N-00546_TP	4605003	121827784	11447525	89	15402											
SFSWAP	0	.	GRCh38	chr12	131764482	131764482	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctccaataagctttgcaAtcaaggccaaagaaaatgat	16	10	7	8	0	1	2	1	1	0	1	2	2	2	2	2	1	3	3	2	1	7	3	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.1747A>G	p.Ile583Val	p.I583V	ENST00000541286	12/19	192	128	64	212	212	0	strelka-varscan-mutect	SFSWAP,missense_variant,p.Ile583Val,ENST00000261674,NM_004592.3;SFSWAP,missense_variant,p.Ile583Val,ENST00000541286,NM_001261411.1;SFSWAP,intron_variant,,ENST00000537164,;SFSWAP,3_prime_UTR_variant,,ENST00000538548,;SFSWAP,non_coding_transcript_exon_variant,,ENST00000535236,;	G	ENST00000541286	Transcript	missense_variant	1840/3219	1747/3012	583/1003	I/V	Atc/Gtc		1		1	SFSWAP	HGNC	HGNC:10790	protein_coding	YES	CCDS58290.1	ENSP00000437738	Q12872		UPI000204AB4C	NM_001261411.1	deleterious(0)		12/19		hmmpanther:PTHR13161,hmmpanther:PTHR13161:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	49	131764482	131764482	A	G	1	0	0	0	0	1	0	0	0	14444	101	4	5		5	SFSWAP	12	131764482	Missense_Mutation	SNP	A	C3N-00546_TP	9936698	131764482	1510827	90	15403											
ANHX	0	.	GRCh38	chr12	133227867	133227867	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttcacccccacagcgaaaTtgtgcagcttctcacgaacc	10	9	7	15	2	2	0	2	0	1	0	3	2	2	0	3	0	4	3	3	0	2	3	novel		C3N-00546_TP	C3N-00546_NB	T	T																c.458A>G	p.Asn153Ser	p.N153S	ENST00000545940	3/8	190	176	14	229	228	1	strelka-varscan-mutect	ANHX,missense_variant,p.Asn153Ser,ENST00000545940,;ANHX,missense_variant,p.Asn153Ser,ENST00000419717,NM_001191054.1;	C	ENST00000545940	Transcript	missense_variant	2197/3452	458/1140	153/379	N/S	aAt/aGt		1		-1	ANHX	HGNC	HGNC:40024	protein_coding	YES	CCDS53855.1	ENSP00000439513	E9PGG2		UPI0001AE6BD3		deleterious(0.04)		3/8		hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF34,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	49	133227867	133227867	T	C	1	0	0	0	0	1	0	0	0	719	1493	52	5		5	ANHX	12	133227867	Missense_Mutation	SNP	T	C3N-00546_TP	1463385	133227867	47442	91	15404											
POSTN	0	.	GRCh38	chr13	37569320	37569320	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccctgaagcagtcttttaAtttcttcatcttcaaataaa	12	16	3	10	0	5	1	2	1	3	0	6	1	6	1	1	0	1	1	1	0	5	6	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.2411T>C	p.Ile804Thr	p.I804T	ENST00000379747	21/23	124	105	19	148	148	0	strelka-varscan-mutect	POSTN,missense_variant,p.Ile804Thr,ENST00000379747,NM_006475.2;POSTN,missense_variant,p.Ile777Thr,ENST00000379743,NM_001286665.1;POSTN,missense_variant,p.Ile717Thr,ENST00000541481,NM_001286666.1,NM_001286667.1;POSTN,missense_variant,p.Ile747Thr,ENST00000379742,NM_001135934.1;POSTN,intron_variant,,ENST00000541179,NM_001135936.1,NM_001135935.1;POSTN,intron_variant,,ENST00000379749,;POSTN,non_coding_transcript_exon_variant,,ENST00000497145,;POSTN,non_coding_transcript_exon_variant,,ENST00000474646,;POSTN,intron_variant,,ENST00000473823,;POSTN,upstream_gene_variant,,ENST00000478947,;	G	ENST00000379747	Transcript	missense_variant	2529/3373	2411/2511	804/836	I/T	aTt/aCt		1		-1	POSTN	HGNC	HGNC:16953	protein_coding	YES	CCDS9364.1	ENSP00000369071	Q15063	A0A024RDS2	UPI000013CEB8	NM_006475.2	deleterious_low_confidence(0)		21/23		PIRSF_domain:PIRSF016553,hmmpanther:PTHR10900,hmmpanther:PTHR10900:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	49	37569320	37569320	A	G	1	0	0	0	0	1	0	0	0	12373	101	4	5		5	POSTN	13	37569320	Missense_Mutation	SNP	A	C3N-00546_TP		37569320	76795008	92	15405											
PCDH8	0	.	GRCh38	chr13	52846224	52846224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagcaccgacccggacaccCcgagccgagagccaggcggg	9	0	15	17	5	0	1	0	0	0	1	0	5	0	2	6	3	3	2	6	3	0	0	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.2213G>T	p.Gly738Val	p.G738V	ENST00000377942	1/3	66	52	14	87	87	0	strelka-varscan-mutect	PCDH8,missense_variant,p.Gly738Val,ENST00000377942,NM_002590.3;PCDH8,missense_variant,p.Gly738Val,ENST00000338862,NM_032949.2;PCDH8,upstream_gene_variant,,ENST00000613548,;	A	ENST00000377942	Transcript	missense_variant	2417/5088	2213/3213	738/1070	G/V	gGg/gTg		1		-1	PCDH8	HGNC	HGNC:8660	protein_coding	YES	CCDS9438.1	ENSP00000367177	O95206		UPI0000072D47	NM_002590.3	tolerated(0.08)		1/3		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF46																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	49	52846224	52846224	C	A	1	0	0	0	0	1	0	0	0	11604	623	22	2		2	PCDH8	13	52846224	Missense_Mutation	SNP	C	C3N-00546_TP	15276904	52846224	61518104	93	15406											
OR11G2	0	.	GRCh38	chr14	20197930	20197930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggttcttgattcctatcGtcaacatctcccaaatgtcc	8	15	5	13	1	4	1	1	1	3	0	8	1	6	1	3	1	1	1	3	1	3	4			C3N-00546_TP	C3N-00546_NB	G	G																c.595G>A	p.Val199Ile	p.V199I	ENST00000357366	1/1	297	248	49	347	347	0	strelka-varscan-mutect	OR11G2,missense_variant,p.Val199Ile,ENST00000357366,NM_001005503.1;	A	ENST00000357366	Transcript	missense_variant	595/1111	595/1038	199/345	V/I	Gtc/Atc	COSM117288	1		1	OR11G2	HGNC	HGNC:15346	protein_coding	YES	CCDS32032.1	ENSP00000349930	Q8NGC1		UPI000015F241	NM_001005503.1	tolerated(1)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF183,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		rs1224442763	.												A	3	1	49	20197930	20197930	G	A	1	0	0	0	0	1	0	0	0	11001	1145	40	1		1	OR11G2	14	20197930	Missense_Mutation	SNP	G	C3N-00546_TP		20197930	86845788	94	15407											
ARHGEF40	0	.	GRCh38	chr14	21082323	21082323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagtgagccagtgccacccCctgggcctgagctgacgcct	6	7	13	15	1	0	4	0	4	0	0	0	4	0	4	6	1	3	1	6	1	0	0	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.3331C>T	p.Pro1111Ser	p.P1111S	ENST00000298694	15/24	123	106	17	88	88	0	strelka-varscan-mutect	ARHGEF40,missense_variant,p.Pro1111Ser,ENST00000298694,NM_001278530.1,NM_001278529.1,NM_018071.4;ARHGEF40,3_prime_UTR_variant,,ENST00000553709,;ARHGEF40,3_prime_UTR_variant,,ENST00000556399,;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000555232,;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000554514,;	T	ENST00000298694	Transcript	missense_variant	3458/5919	3331/4560	1111/1519	P/S	Cct/Tct		1		1	ARHGEF40	HGNC	HGNC:25516	protein_coding	YES	CCDS32041.1	ENSP00000298694	Q8TER5		UPI00001FCFB7	NM_001278530.1,NM_001278529.1,NM_018071.4	tolerated(0.54)		15/24		Low_complexity_(Seg):seg,PROSITE_profiles:PS50010,hmmpanther:PTHR22826:SF143,hmmpanther:PTHR22826,Gene3D:1.20.900.10,Pfam_domain:PF00621,Superfamily_domains:SSF48065																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	49	21082323	21082323	C	T	1	0	0	0	0	1	0	0	0	1044	623	22	3		3	ARHGEF40	14	21082323	Missense_Mutation	SNP	C	C3N-00546_TP	884393	21082323	85961395	95	15408											
ZFHX2	0	.	GRCh38	chr14	23529739	23529739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttggcactgtctctggaagGgccagtcttgttttctgtct	4	16	12	9	0	4	0	0	0	4	0	5	1	4	1	1	3	0	3	1	3	1	4	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.2905C>T	p.Pro969Ser	p.P969S	ENST00000419474	6/10	289	247	42	284	283	1	strelka-varscan-mutect	ZFHX2,missense_variant,p.Pro969Ser,ENST00000419474,NM_033400.2;ZFHX2,3_prime_UTR_variant,,ENST00000615307,;ZFHX2,downstream_gene_variant,,ENST00000412565,;ZFHX2,downstream_gene_variant,,ENST00000555334,;RP11-66N24.4,intron_variant,,ENST00000553985,;RP11-66N24.4,intron_variant,,ENST00000556354,;RP11-66N24.7,upstream_gene_variant,,ENST00000622438,;RP11-66N24.4,intron_variant,,ENST00000554403,;	A	ENST00000419474	Transcript	missense_variant	3261/9182	2905/7719	969/2572	P/S	Cct/Tct		1		-1	ZFHX2	HGNC	HGNC:20152	protein_coding	YES	CCDS55907.1	ENSP00000413418	Q9C0A1		UPI000198D01B	NM_033400.2	tolerated(0.13)		6/10		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF119																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	49	23529739	23529739	G	A	1	0	0	0	0	1	0	0	0	18211	1232	43	3		3	ZFHX2	14	23529739	Missense_Mutation	SNP	G	C3N-00546_TP	2447416	23529739	83513979	96	15409											
LRFN5	0	.	GRCh38	chr14	41891565	41891565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaaggtcaccaaggttagCaatgtttattcccaaactaa	15	10	6	10	0	1	0	1	0	0	0	2	0	2	0	2	2	2	3	2	2	7	5			C3N-00546_TP	C3N-00546_NB	C	C																c.1701C>A	p.Ser567Arg	p.S567R	ENST00000298119	4/6	247	213	34	477	477	0	strelka-varscan-mutect	LRFN5,missense_variant,p.Ser567Arg,ENST00000298119,NM_152447.3;LRFN5,intron_variant,,ENST00000554171,;LRFN5,intron_variant,,ENST00000554120,;	A	ENST00000298119	Transcript	missense_variant	2890/3723	1701/2160	567/719	S/R	agC/agA	COSM3987646	1		1	LRFN5	HGNC	HGNC:20360	protein_coding	YES	CCDS9678.1	ENSP00000298119	Q96NI6		UPI000000DA1E	NM_152447.3	deleterious(0.05)		4/6		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	49	41891565	41891565	C	A	1	0	0	0	0	1	0	0	0	8835	709	25	2		2	LRFN5	14	41891565	Missense_Mutation	SNP	C	C3N-00546_TP	18361826	41891565	65152153	97	15410											
FKBP3	0	.	GRCh38	chr14	45129886	45129886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacactttacttatactttCagtacccttaaaacgctgta	13	14	4	10	1	1	1	1	0	0	1	1	1	1	1	1	0	4	3	1	0	7	8	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.226G>A	p.Glu76Lys	p.E76K	ENST00000216330	4/8	160	143	17	106	106	0	strelka-varscan-mutect	FKBP3,missense_variant,p.Glu76Lys,ENST00000216330,;FKBP3,missense_variant,p.Glu76Lys,ENST00000396062,NM_002013.3;FKBP3,3_prime_UTR_variant,,ENST00000557324,;FKBP3,non_coding_transcript_exon_variant,,ENST00000556231,;	T	ENST00000216330	Transcript	missense_variant	637/1684	226/675	76/224	E/K	Gaa/Aaa		1		-1	FKBP3	HGNC	HGNC:3719	protein_coding	YES	CCDS9683.1	ENSP00000216330	Q00688		UPI000012A815		deleterious(0.01)		4/8																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	49	45129886	45129886	C	T	1	0	0	0	0	1	0	0	0	5773	835	29	3		3	FKBP3	14	45129886	Missense_Mutation	SNP	C	C3N-00546_TP	3238321	45129886	61913832	98	15411											
EXOC5	0	.	GRCh38	chr14	57235778	57235779	+	Frame_Shift_Ins	INS	-	-	C																															acctcttctttgagcactggINStaaactcctgaatcagctgg																								novel		C3N-00546_TP	C3N-00546_NB	-	-																c.601_602insG	p.Thr201SerfsTer8	p.T201Sfs*8	ENST00000621441	7/18	262	224	38	173	173	0	sindel-varindel	EXOC5,frameshift_variant,p.Thr201SerfsTer8,ENST00000621441,NM_006544.3;EXOC5,frameshift_variant,p.Thr201SerfsTer8,ENST00000413566,;EXOC5,frameshift_variant,p.Thr136SerfsTer8,ENST00000340918,;EXOC5,upstream_gene_variant,,ENST00000554934,;EXOC5,3_prime_UTR_variant,,ENST00000555148,;EXOC5,non_coding_transcript_exon_variant,,ENST00000556629,;EXOC5,upstream_gene_variant,,ENST00000554011,;EXOC5,downstream_gene_variant,,ENST00000554598,;	C	ENST00000621441	Transcript	frameshift_variant	961-962/10589	601-602/2127	201/708	T/SX	acc/aGcc		1		-1	EXOC5	HGNC	HGNC:10696	protein_coding	YES	CCDS45111.1	ENSP00000484855	O00471		UPI0000047E53	NM_006544.3			7/18		hmmpanther:PTHR12100:SF0,hmmpanther:PTHR12100,Pfam_domain:PF07393																	HIGH	1	insertion	1			1										PASS		.	.												C	7	5	49	57235778	57235778	-	C	1	0	1	1	0	0	0	0	0	5175	1261	44	0		0	EXOC5	14	57235778	Frame_Shift_Ins	INS	-	C3N-00546_TP	12105892	57235778	49807940	99	15412	329	2									
EXOC5	0	.	GRCh38	chr14	57235780	57235780	+	Missense_Mutation	SNP	A	A	C																															cctcttctttgagcactggtAaactcctgaatcagctggca																								novel		C3N-00546_TP	C3N-00546_NB	A	A																c.600T>G	p.Phe200Leu	p.F200L	ENST00000621441	7/18	280	242	38	170	170	0	strelka-mutect	EXOC5,missense_variant,p.Phe200Leu,ENST00000621441,NM_006544.3;EXOC5,missense_variant,p.Phe200Leu,ENST00000413566,;EXOC5,missense_variant,p.Phe135Leu,ENST00000340918,;EXOC5,upstream_gene_variant,,ENST00000554934,;EXOC5,3_prime_UTR_variant,,ENST00000555148,;EXOC5,non_coding_transcript_exon_variant,,ENST00000556629,;EXOC5,upstream_gene_variant,,ENST00000554011,;EXOC5,downstream_gene_variant,,ENST00000554598,;	C	ENST00000621441	Transcript	missense_variant	960/10589	600/2127	200/708	F/L	ttT/ttG		1		-1	EXOC5	HGNC	HGNC:10696	protein_coding	YES	CCDS45111.1	ENSP00000484855	O00471		UPI0000047E53	NM_006544.3	deleterious(0)		7/18		hmmpanther:PTHR12100:SF0,hmmpanther:PTHR12100,Pfam_domain:PF07393																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	49	57235780	57235780	A	C	1	0	0	0	0	1	0	0	0	5175	359	13	5		5	EXOC5	14	57235780	Missense_Mutation	SNP	A	C3N-00546_TP	2	57235780	49807938	100	15413	329	2									
KCNH5	0	.	GRCh38	chr14	62849680	62849680	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatcaatgccttttgacatGgaccatgttgagacaatata	13	13	8	7	0	1	2	1	2	0	1	1	4	1	3	2	1	1	2	2	1	5	6			C3N-00546_TP	C3N-00546_NB	G	G																c.1542C>A	p.=	p.S514S	ENST00000322893	8/11	359	282	77	292	292	0	strelka-varscan-mutect	KCNH5,synonymous_variant,p.=,ENST00000322893,NM_139318.4;KCNH5,synonymous_variant,p.=,ENST00000420622,NM_172375.2;KCNH5,synonymous_variant,p.=,ENST00000394968,;	T	ENST00000322893	Transcript	synonymous_variant	1811/11290	1542/2967	514/988	S	tcC/tcA	COSM4468418,COSM4468419	1		-1	KCNH5	HGNC	HGNC:6254	protein_coding	YES	CCDS9756.1	ENSP00000321427	Q8NCM2		UPI0000039E2D	NM_139318.4			8/11		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF533,Gene3D:3bpzA01,Superfamily_domains:SSF51206,Prints_domain:PR01463											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	49	62849680	62849680	G	T	1	0	0	0	0	0	0	0	1	7951	1335	47	2		2	KCNH5	14	62849680	Silent	SNP	G	C3N-00546_TP	5613900	62849680	44194038	101	15414											
YLPM1	0	.	GRCh38	chr14	74829332	74829332	+	Frame_Shift_Del	DEL	G	G	-																															atactcgtgcttctgagcctGggaagaagagggtaagagac																								novel		C3N-00546_TP	C3N-00546_NB	G	G																c.6285delG	p.Lys2096ArgfsTer21	p.K2096Rfs*21	ENST00000325680	19/21	180	139	41	182	182	0	sindel-varindel-pindel	YLPM1,frameshift_variant,p.Lys2096ArgfsTer21,ENST00000325680,NM_019589.2;YLPM1,frameshift_variant,p.Lys1390ArgfsTer21,ENST00000552421,;YLPM1,intron_variant,,ENST00000554107,;YLPM1,downstream_gene_variant,,ENST00000546901,;YLPM1,3_prime_UTR_variant,,ENST00000549293,;YLPM1,downstream_gene_variant,,ENST00000550021,;	-	ENST00000325680	Transcript	frameshift_variant	6407/7108	6283/6441	2095/2146	G/X	Ggg/gg		1		1	YLPM1	HGNC	HGNC:17798	protein_coding	YES	CCDS45135.1	ENSP00000324463	P49750		UPI00006C1433	NM_019589.2			19/21		hmmpanther:PTHR13413,hmmpanther:PTHR13413:SF0																	HIGH	1	deletion	5	2		1										PASS		.	.												-	7	5	49	74829332	74829332	G	-	1	0	1	0	1	0	0	0	0	18048	1348	47	0		0	YLPM1	14	74829332	Frame_Shift_Del	DEL	G	C3N-00546_TP	11979652	74829332	32214386	102	15415											
STON2	0	.	GRCh38	chr14	81398332	81398332	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggtggctcttcattgaaGgagacccattctgactggtg	9	11	13	8	0	3	3	1	2	2	1	3	4	3	3	1	4	0	1	1	4	2	3	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.51C>A	p.=	p.S17S	ENST00000555447	3/8	169	131	38	182	182	0	strelka-varscan-mutect	STON2,synonymous_variant,p.=,ENST00000555447,NM_001256430.1;STON2,synonymous_variant,p.=,ENST00000267540,NM_033104.3;STON2,synonymous_variant,p.=,ENST00000614646,;STON2,synonymous_variant,p.=,ENST00000557055,;STON2,downstream_gene_variant,,ENST00000554710,;STON2,non_coding_transcript_exon_variant,,ENST00000555226,;	T	ENST00000555447	Transcript	synonymous_variant	464/4302	51/2763	17/920	S	tcC/tcA		1		-1	STON2	HGNC	HGNC:30652	protein_coding	YES	CCDS58332.1	ENSP00000450857	Q8WXE9		UPI00001FD96B	NM_001256430.1			3/8		PIRSF_domain:PIRSF037099,Pfam_domain:PF12016																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	49	81398332	81398332	G	T	1	0	0	0	0	0	0	0	1	15696	987	35	2		2	STON2	14	81398332	Silent	SNP	G	C3N-00546_TP	6569000	81398332	25645386	103	15416											
DYNC1H1	0	.	GRCh38	chr14	102020004	102020004	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctggagaccctgcctgttGaaggcctcattcggatttgg	6	12	12	11	1	2	2	1	1	1	1	3	4	2	3	3	4	1	1	3	4	1	3	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.8455G>C	p.Glu2819Gln	p.E2819Q	ENST00000360184	42/78	442	355	87	352	352	0	strelka-varscan-mutect	DYNC1H1,missense_variant,p.Glu2819Gln,ENST00000360184,NM_001376.4;DYNC1H1,upstream_gene_variant,,ENST00000555204,;	C	ENST00000360184	Transcript	missense_variant	8619/14333	8455/13941	2819/4646	E/Q	Gaa/Caa		1		1	DYNC1H1	HGNC	HGNC:2961	protein_coding	YES	CCDS9966.1	ENSP00000348965	Q14204		UPI00001B515A	NM_001376.4	deleterious(0)		42/78		Pfam_domain:PF12775,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF28,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	49	102020004	102020004	G	C	1	0	0	0	0	1	0	0	0	4665	1291	45	4		4	DYNC1H1	14	102020004	Missense_Mutation	SNP	G	C3N-00546_TP	20621672	102020004	5023714	104	15417											
LPCAT4	0	.	GRCh38	chr15	34360177	34360177	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgctagtgcaagggcCacatctcggaagtccaccaa	12	6	11	12	1	1	1	0	0	1	1	3	2	2	2	3	2	3	3	3	2	4	1	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.1176G>T	p.=	p.V392V	ENST00000314891	12/14	186	161	25	214	213	1	strelka-varscan-mutect	LPCAT4,synonymous_variant,p.=,ENST00000314891,NM_153613.2;LPCAT4,synonymous_variant,p.=,ENST00000617710,;NUTM1,downstream_gene_variant,,ENST00000614490,NM_175741.2;NUTM1,downstream_gene_variant,,ENST00000537011,NM_001284292.1;NUTM1,downstream_gene_variant,,ENST00000438749,NM_001284293.1;NUTM1,downstream_gene_variant,,ENST00000333756,;LPCAT4,downstream_gene_variant,,ENST00000623384,;LPCAT4,downstream_gene_variant,,ENST00000562431,;LPCAT4,missense_variant,p.Trp81Leu,ENST00000567507,;LPCAT4,non_coding_transcript_exon_variant,,ENST00000563748,;LPCAT4,downstream_gene_variant,,ENST00000563240,;LPCAT4,downstream_gene_variant,,ENST00000566581,;LPCAT4,downstream_gene_variant,,ENST00000569804,;LPCAT4,downstream_gene_variant,,ENST00000562404,;	A	ENST00000314891	Transcript	synonymous_variant	1354/2262	1176/1575	392/524	V	gtG/gtT		1		-1	LPCAT4	HGNC	HGNC:30059	protein_coding	YES	CCDS32191.1	ENSP00000317300	Q643R3		UPI00003D0606	NM_153613.2			12/14		Gene3D:1.10.238.10,hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF7																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	49	34360177	34360177	C	A	1	0	0	0	0	0	0	0	1	8816	581	21	2		2	LPCAT4	15	34360177	Silent	SNP	C	C3N-00546_TP		34360177	67631012	105	15418											
MYO5A	0	.	GRCh38	chr15	52425841	52425841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaccaacctggccatttgCttgtaagcttcttcagctac	8	14	6	13	0	3	0	1	0	2	0	3	0	3	0	3	1	6	4	3	1	4	7	rs754065070		C3N-00546_TP	C3N-00546_NB	C	C																c.444G>T	p.Lys148Asn	p.K148N	ENST00000399231	4/41	365	300	65	400	400	0	strelka-varscan-mutect	MYO5A,missense_variant,p.Lys148Asn,ENST00000399231,NM_000259.3;MYO5A,missense_variant,p.Lys148Asn,ENST00000358212,;MYO5A,missense_variant,p.Lys148Asn,ENST00000399233,;MYO5A,missense_variant,p.Lys148Asn,ENST00000613858,;MYO5A,missense_variant,p.Lys148Asn,ENST00000356338,NM_001142495.1;MYO5A,missense_variant,p.Lys148Asn,ENST00000553916,;AC018902.1,upstream_gene_variant,,ENST00000628998,;MYO5A,3_prime_UTR_variant,,ENST00000556196,;MYO5A,non_coding_transcript_exon_variant,,ENST00000561810,;	A	ENST00000399231	Transcript	missense_variant	688/12225	444/5568	148/1855	K/N	aaG/aaT	rs754065070	1		-1	MYO5A	HGNC	HGNC:7602	protein_coding	YES	CCDS42037.1	ENSP00000382177	Q9Y4I1		UPI0000E445E1	NM_000259.3	deleterious(0.05)		4/41		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF273,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs754065070	.												A	3	1	49	52425841	52425841	C	A	1	0	0	0	0	1	0	0	0	10079	796	28	2		2	MYO5A	15	52425841	Missense_Mutation	SNP	C	C3N-00546_TP	18065664	52425841	49565348	106	15419											
HERC1	0	.	GRCh38	chr15	63674849	63674849	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctgacttttgacgtcatCagatgttaggcctgttcgca	8	14	9	10	2	3	3	2	2	1	1	4	3	3	3	1	1	0	3	1	1	1	4	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.7339G>C	p.Asp2447His	p.D2447H	ENST00000443617	38/78	90	74	16	104	104	0	strelka-varscan-mutect	HERC1,missense_variant,p.Asp2447His,ENST00000443617,NM_003922.3;HERC1,missense_variant,p.Asp130His,ENST00000559715,;RP11-317G6.1,upstream_gene_variant,,ENST00000559303,;	G	ENST00000443617	Transcript	missense_variant	7427/15137	7339/14586	2447/4861	D/H	Gat/Cat		1		-1	HERC1	HGNC	HGNC:4867	protein_coding	YES	CCDS45277.1	ENSP00000390158	Q15751	A0A024R5W0	UPI0000212760	NM_003922.3	tolerated(0.07)		38/78																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	49	63674849	63674849	C	G	1	0	0	0	0	1	0	0	0	6941	826	29	4		4	HERC1	15	63674849	Missense_Mutation	SNP	C	C3N-00546_TP	11249008	63674849	38316340	107	15420											
PLEKHO2	0	.	GRCh38	chr15	64865602	64865602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcccttggggacttgcttgGggaaggcccgcggcatccct	4	9	14	14	2	0	0	0	0	0	0	2	2	2	2	3	6	1	2	3	6	1	3	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.1187G>T	p.Gly396Val	p.G396V	ENST00000323544	6/6	220	203	17	187	187	0	strelka-varscan-mutect	PLEKHO2,missense_variant,p.Gly396Val,ENST00000323544,NM_025201.4;PLEKHO2,missense_variant,p.Gly346Val,ENST00000616065,NM_001195059.1;AC069368.3,intron_variant,,ENST00000437723,;AC069368.3,intron_variant,,ENST00000502574,;	T	ENST00000323544	Transcript	missense_variant	1315/3720	1187/1473	396/490	G/V	gGg/gTg		1		1	PLEKHO2	HGNC	HGNC:30026	protein_coding	YES	CCDS10196.1	ENSP00000326706	Q8TD55		UPI000004D254	NM_025201.4	deleterious(0.03)		6/6		hmmpanther:PTHR15871,hmmpanther:PTHR15871:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	49	64865602	64865602	G	T	1	0	0	0	0	1	0	0	0	12178	1232	43	2		2	PLEKHO2	15	64865602	Missense_Mutation	SNP	G	C3N-00546_TP	1190753	64865602	37125587	108	15421											
LRRC49	0	.	GRCh38	chr15	70919169	70919169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactaactgaacttaacttGcgacacaatcaaatcacttt	15	12	3	11	1	3	1	3	1	0	0	3	2	3	1	0	0	4	0	0	0	5	4	rs759269941		C3N-00546_TP	C3N-00546_NB	G	G																c.702G>C	p.Leu234Phe	p.L234F	ENST00000560369	7/16	144	126	18	117	117	0	strelka-varscan-mutect	LRRC49,missense_variant,p.Leu219Phe,ENST00000544974,NM_001284357.1;LRRC49,missense_variant,p.Leu185Phe,ENST00000443425,NM_001199018.2;LRRC49,missense_variant,p.Leu229Phe,ENST00000260382,NM_017691.4;LRRC49,missense_variant,p.Leu234Phe,ENST00000560369,NM_001199017.2;LRRC49,5_prime_UTR_variant,,ENST00000560691,;LRRC49,non_coding_transcript_exon_variant,,ENST00000436542,;LRRC49,non_coding_transcript_exon_variant,,ENST00000558137,;LRRC49,non_coding_transcript_exon_variant,,ENST00000561285,;LRRC49,3_prime_UTR_variant,,ENST00000561081,;LRRC49,3_prime_UTR_variant,,ENST00000560107,;LRRC49,non_coding_transcript_exon_variant,,ENST00000560980,;LRRC49,non_coding_transcript_exon_variant,,ENST00000559469,;LRRC49,downstream_gene_variant,,ENST00000559670,;	C	ENST00000560369	Transcript	missense_variant	971/2586	702/2076	234/691	L/F	ttG/ttC	rs759269941	1		1	LRRC49	HGNC	HGNC:25965	protein_coding	YES	CCDS58376.1	ENSP00000453273	Q8IUZ0		UPI0001E92A32	NM_001199017.2	deleterious(0)		7/16		Gene3D:3.80.10.10,Pfam_domain:PF14580,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF335,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	2			1										PASS		rs759269941	.												C	3	2	49	70919169	70919169	G	C	1	0	0	0	0	1	0	0	0	8901	1310	46	4		4	LRRC49	15	70919169	Missense_Mutation	SNP	G	C3N-00546_TP	6053567	70919169	31072020	109	15422											
LOXL1	0	.	GRCh38	chr15	73927708	73927708	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggagacccacgcctgggcTggtacccgccctacgccaac	7	4	12	18	4	0	1	0	0	0	1	0	2	0	1	5	3	3	2	5	3	3	2	novel		C3N-00546_TP	C3N-00546_NB	T	T																c.925T>A	p.Trp309Arg	p.W309R	ENST00000261921	1/7	162	146	16	163	163	0	strelka-varscan-mutect	LOXL1,missense_variant,p.Trp309Arg,ENST00000261921,NM_005576.2;LOXL1-AS1,non_coding_transcript_exon_variant,,ENST00000567257,;LOXL1-AS1,intron_variant,,ENST00000564194,;LOXL1-AS1,intron_variant,,ENST00000562965,;LOXL1-AS1,intron_variant,,ENST00000565756,;LOXL1-AS1,intron_variant,,ENST00000565416,;LOXL1-AS1,intron_variant,,ENST00000566675,;LOXL1-AS1,intron_variant,,ENST00000568087,;LOXL1-AS1,upstream_gene_variant,,ENST00000568229,;LOXL1-AS1,upstream_gene_variant,,ENST00000567644,;LOXL1-AS1,upstream_gene_variant,,ENST00000562739,;LOXL1-AS1,upstream_gene_variant,,ENST00000564963,;LOXL1-AS1,upstream_gene_variant,,ENST00000562130,;LOXL1,missense_variant,p.Trp309Arg,ENST00000566011,;	A	ENST00000261921	Transcript	missense_variant	1251/2351	925/1725	309/574	W/R	Tgg/Agg		1		1	LOXL1	HGNC	HGNC:6665	protein_coding	YES	CCDS10253.1	ENSP00000261921	Q08397		UPI000013D224	NM_005576.2	tolerated(0.31)		1/7																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	49	73927708	73927708	T	A	1	0	0	0	0	1	0	0	0	8802	1580	55	4		4	LOXL1	15	73927708	Missense_Mutation	SNP	T	C3N-00546_TP	3008539	73927708	28063481	110	15423											
TPSD1	0	.	GRCh38	chr16	1257059	1257059	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggggcgacgtggacaatAatggtgggtgttggggacag	8	8	20	5	2	0	0	0	0	0	0	0	3	0	2	0	7	0	2	0	7	2	2	rs201543585		C3N-00546_TP	C3N-00546_NB	A	A																c.517A>G	p.Asn173Asp	p.N173D	ENST00000211076	3/5	114	105	9	74	73	1	varscan-mutect	TPSD1,missense_variant,p.Asn173Asp,ENST00000211076,NM_012217.2;TPSD1,missense_variant,p.Asn166Asp,ENST00000397534,;RP11-616M22.5,upstream_gene_variant,,ENST00000566997,;PRSS29P,downstream_gene_variant,,ENST00000568091,;PRSS29P,downstream_gene_variant,,ENST00000440800,;	G	ENST00000211076	Transcript	missense_variant	665/1499	517/729	173/242	N/D	Aat/Gat	rs201543585	1		1	TPSD1	HGNC	HGNC:14118	protein_coding	YES	CCDS10432.1	ENSP00000211076	Q9BZJ3		UPI000007066B	NM_012217.2	tolerated(0.48)		3/5		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF261,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs201543585	.												G	3	3	49	1257059	1257059	A	G	1	0	0	0	0	1	0	0	0	16906	376	13	5		5	TPSD1	16	1257059	Missense_Mutation	SNP	A	C3N-00546_TP		1257059	89081286	111	15424											
MLST8	0	.	GRCh38	chr16	2207205	2207205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccaggcagagctcatcGtgggtgaccagagcggggct	8	5	15	13	2	1	3	1	1	0	2	2	3	1	3	3	4	2	3	3	4	0	0	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.433G>T	p.Val145Leu	p.V145L	ENST00000569417	6/9	128	110	18	112	112	0	strelka-varscan-mutect	MLST8,missense_variant,p.Val145Leu,ENST00000569417,NM_022372.4;MLST8,missense_variant,p.Val144Leu,ENST00000382450,NM_001199175.1;MLST8,missense_variant,p.Val145Leu,ENST00000564088,NM_001199173.1;MLST8,missense_variant,p.Val145Leu,ENST00000301724,;MLST8,missense_variant,p.Val145Leu,ENST00000397124,NM_001199174.1;MLST8,missense_variant,p.Val145Leu,ENST00000565250,;MLST8,missense_variant,p.Val151Leu,ENST00000562352,;MLST8,missense_variant,p.Val145Leu,ENST00000569457,;MLST8,missense_variant,p.Val151Leu,ENST00000562479,;PGP,downstream_gene_variant,,ENST00000333503,NM_001042371.2;BRICD5,downstream_gene_variant,,ENST00000328540,NM_182563.3;BRICD5,downstream_gene_variant,,ENST00000562360,;MLST8,downstream_gene_variant,,ENST00000563179,;BRICD5,downstream_gene_variant,,ENST00000566018,;RP11-304L19.8,upstream_gene_variant,,ENST00000561544,;MLST8,non_coding_transcript_exon_variant,,ENST00000561651,;MLST8,non_coding_transcript_exon_variant,,ENST00000562844,;MLST8,non_coding_transcript_exon_variant,,ENST00000564319,;MLST8,downstream_gene_variant,,ENST00000565926,;MLST8,downstream_gene_variant,,ENST00000562043,;MLST8,missense_variant,p.Val145Leu,ENST00000566835,;MLST8,synonymous_variant,p.=,ENST00000563107,;MLST8,3_prime_UTR_variant,,ENST00000565687,;MLST8,3_prime_UTR_variant,,ENST00000570224,;MLST8,3_prime_UTR_variant,,ENST00000565717,;MLST8,3_prime_UTR_variant,,ENST00000567623,;MLST8,3_prime_UTR_variant,,ENST00000567282,;MLST8,3_prime_UTR_variant,,ENST00000562851,;MLST8,non_coding_transcript_exon_variant,,ENST00000568194,;MLST8,non_coding_transcript_exon_variant,,ENST00000568542,;MLST8,non_coding_transcript_exon_variant,,ENST00000563067,;MLST8,non_coding_transcript_exon_variant,,ENST00000565330,;MLST8,non_coding_transcript_exon_variant,,ENST00000569848,;MLST8,upstream_gene_variant,,ENST00000562392,;MLST8,downstream_gene_variant,,ENST00000564294,;MLST8,upstream_gene_variant,,ENST00000562239,;MLST8,downstream_gene_variant,,ENST00000564679,;MLST8,downstream_gene_variant,,ENST00000566653,;MLST8,downstream_gene_variant,,ENST00000565269,;MLST8,downstream_gene_variant,,ENST00000567928,;BRICD5,downstream_gene_variant,,ENST00000566795,;	T	ENST00000569417	Transcript	missense_variant	787/1870	433/981	145/326	V/L	Gtg/Ttg		1		1	MLST8	HGNC	HGNC:24825	protein_coding	YES	CCDS10462.2	ENSP00000456405	Q9BVC4		UPI000006D8E8	NM_022372.4	tolerated(0.14)		6/9		PROSITE_profiles:PS50294,hmmpanther:PTHR19842,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998																	MODERATE	1	SNV	1			1										PASS		rs1201528887	.												T	3	4	49	2207205	2207205	G	T	1	0	0	0	0	1	0	0	0	9597	1145	40	1		1	MLST8	16	2207205	Missense_Mutation	SNP	G	C3N-00546_TP	950146	2207205	88131140	112	15425											
RBFOX1	0	.	GRCh38	chr16	7587251	7587251	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctatttctttgcagcaatTtggtaaaatcttagatgttg	10	19	7	5	0	3	1	0	0	3	1	3	1	3	1	0	1	2	4	0	1	5	8	novel		C3N-00546_TP	C3N-00546_NB	T	T																c.548T>A	p.Phe183Tyr	p.F183Y	ENST00000422070	7/16	59	53	6	77	77	0	strelka-mutect	RBFOX1,missense_variant,p.Phe140Tyr,ENST00000550418,NM_018723.3;RBFOX1,missense_variant,p.Phe145Tyr,ENST00000340209,;RBFOX1,missense_variant,p.Phe145Tyr,ENST00000620507,;RBFOX1,missense_variant,p.Phe183Tyr,ENST00000547372,;RBFOX1,missense_variant,p.Phe160Tyr,ENST00000355637,NM_145893.2;RBFOX1,missense_variant,p.Phe160Tyr,ENST00000311745,NM_145891.2;RBFOX1,missense_variant,p.Phe140Tyr,ENST00000553186,NM_001142333.1;RBFOX1,missense_variant,p.Phe139Tyr,ENST00000547605,;RBFOX1,missense_variant,p.Phe183Tyr,ENST00000422070,NM_001308117.1;RBFOX1,missense_variant,p.Phe128Tyr,ENST00000535565,;RBFOX1,missense_variant,p.Phe160Tyr,ENST00000436368,NM_145892.2;RBFOX1,missense_variant,p.Phe140Tyr,ENST00000547338,NM_001142334.1;RBFOX1,missense_variant,p.Phe140Tyr,ENST00000551752,;RBFOX1,missense_variant,p.Phe142Tyr,ENST00000570626,;RBFOX1,intron_variant,,ENST00000552089,;	A	ENST00000422070	Transcript	missense_variant	744/1684	548/1278	183/425	F/Y	tTt/tAt		1		1	RBFOX1	HGNC	HGNC:18222	protein_coding	YES	CCDS76818.1	ENSP00000391269		B7Z1U7	UPI0001914C99	NM_001308117.1	deleterious(0.03)		7/16		PROSITE_profiles:PS50102,hmmpanther:PTHR15597:SF26,hmmpanther:PTHR15597,PIRSF_domain:PIRSF037932,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	49	7587251	7587251	T	A	1	0	0	0	0	1	0	0	0	13271	1855	64	4		4	RBFOX1	16	7587251	Missense_Mutation	SNP	T	C3N-00546_TP	5380046	7587251	82751094	113	15426											
KIAA0430	0	.	GRCh38	chr16	15602039	15602039	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgctgctgtggccgtaggtCttgggctgcagagtttctcc	4	12	14	11	2	2	1	0	0	2	1	3	1	2	1	2	3	2	6	2	3	1	3	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.4578G>A	p.=	p.K1526K	ENST00000396368	23/27	509	456	53	381	381	0	strelka-varscan-mutect	KIAA0430,synonymous_variant,p.=,ENST00000396368,NM_014647.3;KIAA0430,synonymous_variant,p.=,ENST00000540441,;KIAA0430,synonymous_variant,p.=,ENST00000551742,NM_001184998.1;KIAA0430,synonymous_variant,p.=,ENST00000548025,NM_001184999.1;C16orf45,intron_variant,,ENST00000565857,;KIAA0430,downstream_gene_variant,,ENST00000547936,;KIAA0430,3_prime_UTR_variant,,ENST00000552553,;KIAA0430,upstream_gene_variant,,ENST00000552771,;KIAA0430,upstream_gene_variant,,ENST00000551878,;KIAA0430,upstream_gene_variant,,ENST00000549337,;KIAA0430,upstream_gene_variant,,ENST00000551579,;	T	ENST00000396368	Transcript	synonymous_variant	4785/7743	4578/5229	1526/1742	K	aaG/aaA		1		-1	KIAA0430	HGNC	HGNC:29562	protein_coding	YES	CCDS10562.2	ENSP00000379654	Q9Y4F3		UPI00006881BC	NM_014647.3			23/27		Pfam_domain:PF12872,PROSITE_profiles:PS51644,hmmpanther:PTHR14379,hmmpanther:PTHR14379:SF3																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	49	15602039	15602039	C	T	1	0	0	0	0	0	0	0	1	8086	912	32	3		3	KIAA0430	16	15602039	Silent	SNP	C	C3N-00546_TP	8014788	15602039	74736306	114	15427											
XYLT1	0	.	GRCh38	chr16	17200537	17200537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtagatggccttgaacatgCgctgcaactgccgagaggca	10	7	14	10	2	0	3	0	1	0	2	0	4	0	3	2	3	5	4	2	3	3	2	rs757356673		C3N-00546_TP	C3N-00546_NB	C	C																c.1031G>A	p.Arg344His	p.R344H	ENST00000261381	4/12	240	189	51	216	216	0	strelka-varscan-mutect	XYLT1,missense_variant,p.Arg344His,ENST00000261381,NM_022166.3;XYLT1,non_coding_transcript_exon_variant,,ENST00000575674,;	T	ENST00000261381	Transcript	missense_variant	1116/9891	1031/2880	344/959	R/H	cGc/cAc	rs757356673	1		-1	XYLT1	HGNC	HGNC:15516	protein_coding	YES	CCDS10569.1	ENSP00000261381	Q86Y38		UPI000000DCCE	NM_022166.3	deleterious(0)		4/12		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF91,Pfam_domain:PF02485																	MODERATE	1	SNV	1			1										PASS		rs757356673	.												T	3	4	49	17200537	17200537	C	T	1	0	0	0	0	1	0	0	0	18022	768	27	1		1	XYLT1	16	17200537	Missense_Mutation	SNP	C	C3N-00546_TP	1598498	17200537	73137808	115	15428											
TMEM219	0	.	GRCh38	chr16	29963241	29963241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgctgctccttggcctctCtggcctgggccttggcagct	1	12	12	16	0	1	0	0	0	1	0	3	0	2	0	5	4	3	4	5	4	0	2			C3N-00546_TP	C3N-00546_NB	C	C																c.98C>G	p.Ser33Cys	p.S33C	ENST00000566848	1/5	454	431	23	332	332	0	strelka-varscan-mutect	TMEM219,missense_variant,p.Ser33Cys,ENST00000566848,;TMEM219,missense_variant,p.Ser33Cys,ENST00000561899,;TMEM219,missense_variant,p.Ser33Cys,ENST00000414689,;TMEM219,missense_variant,p.Ser33Cys,ENST00000279396,NM_001083613.1,NM_194280.3;TMEM219,missense_variant,p.Ser33Cys,ENST00000575829,;TMEM219,missense_variant,p.Ser33Cys,ENST00000602948,;TMEM219,upstream_gene_variant,,ENST00000569445,;TMEM219,upstream_gene_variant,,ENST00000569481,;TMEM219,missense_variant,p.Ser24Cys,ENST00000570255,;	G	ENST00000566848	Transcript	missense_variant	565/1292	98/723	33/240	S/C	tCt/tGt	COSM241937	1		1	TMEM219	HGNC	HGNC:25201	protein_coding	YES	CCDS42145.1	ENSP00000457492	Q86XT9	A0A024R618	UPI000004F67E		deleterious(0)		1/5		Pfam_domain:PF14940,hmmpanther:PTHR16002,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	49	29963241	29963241	C	G	1	0	0	0	0	1	0	0	0	16583	913	32	4		4	TMEM219	16	29963241	Missense_Mutation	SNP	C	C3N-00546_TP	12762704	29963241	60375104	116	15429											
GINS3	0	.	GRCh38	chr16	58392725	58392725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacggagaccgccatgcctCgccttggcgctttcttcctg	4	10	11	16	4	1	1	0	0	1	1	3	2	2	1	5	2	1	2	5	2	0	3	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.124C>T	p.Arg42Cys	p.R42C	ENST00000426538	1/4	274	233	41	238	238	0	strelka-varscan-mutect	GINS3,missense_variant,p.Arg42Cys,ENST00000318129,NM_022770.3;GINS3,missense_variant,p.Arg42Cys,ENST00000328514,NM_001126130.1;GINS3,missense_variant,p.Arg42Cys,ENST00000426538,NM_001126129.1;RP11-481J2.3,non_coding_transcript_exon_variant,,ENST00000613275,;GINS3,non_coding_transcript_exon_variant,,ENST00000567909,;GINS3,downstream_gene_variant,,ENST00000564814,;	T	ENST00000426538	Transcript	missense_variant	332/1728	124/768	42/255	R/C	Cgc/Tgc		1		1	GINS3	HGNC	HGNC:25851	protein_coding	YES	CCDS45498.1	ENSP00000401018	Q9BRX5	A0A0S2Z5P2	UPI00001FF2F1	NM_001126129.1	deleterious(0)		1/4		hmmpanther:PTHR22768,Superfamily_domains:SSF160059																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	49	58392725	58392725	C	T	1	0	0	0	0	1	0	0	0	6271	884	31	1		1	GINS3	16	58392725	Missense_Mutation	SNP	C	C3N-00546_TP	28429484	58392725	31945620	117	15430											
CDH11	0	.	GRCh38	chr16	64982132	64982132	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattttcttggacttcgTggatgtaacttggggccaag	7	14	12	8	1	1	0	0	0	1	0	2	2	1	2	1	4	2	2	1	4	2	6	novel		C3N-00546_TP	C3N-00546_NB	T	T																c.1169A>G	p.His390Arg	p.H390R	ENST00000268603	8/13	210	176	34	234	234	0	strelka-varscan-mutect	CDH11,missense_variant,p.His390Arg,ENST00000394156,NM_001308392.1;CDH11,missense_variant,p.His390Arg,ENST00000268603,NM_001797.2;CDH11,missense_variant,p.His264Arg,ENST00000566827,;CDH11,downstream_gene_variant,,ENST00000619158,;RP11-229O3.1,non_coding_transcript_exon_variant,,ENST00000624875,;	C	ENST00000268603	Transcript	missense_variant	1785/6857	1169/2391	390/796	H/R	cAc/cGc		1		-1	CDH11	HGNC	HGNC:1750	protein_coding	YES	CCDS10803.1	ENSP00000268603	P55287		UPI000013D7C5	NM_001797.2	deleterious(0)		8/13		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	49	64982132	64982132	T	C	1	0	0	0	0	1	0	0	0	2800	1696	59	5		5	CDH11	16	64982132	Missense_Mutation	SNP	T	C3N-00546_TP	6589407	64982132	25356213	118	15431											
CNTNAP4	0	.	GRCh38	chr16	76494996	76494996	+	Frame_Shift_Del	DEL	A	A	-																															cgcctgatcttcaaaaatgtActtgtggattagagggaaac																								novel		C3N-00546_TP	C3N-00546_NB	A	A																c.2167delA	p.Thr723LeufsTer4	p.T723Lfs*4	ENST00000611870	14/24	201	167	34	239	239	0	sindel-varindel-pindel	CNTNAP4,frameshift_variant,p.Thr723LeufsTer4,ENST00000307431,;CNTNAP4,frameshift_variant,p.Thr723LeufsTer4,ENST00000611870,NM_033401.3;CNTNAP4,frameshift_variant,p.Thr675LeufsTer4,ENST00000377504,;CNTNAP4,frameshift_variant,p.Thr726LeufsTer4,ENST00000476707,;CNTNAP4,frameshift_variant,p.Thr675LeufsTer4,ENST00000622250,;CNTNAP4,frameshift_variant,p.Thr650LeufsTer4,ENST00000478060,NM_138994.3;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000471618,;	-	ENST00000611870	Transcript	frameshift_variant	2552/4867	2167/3927	723/1308	T/X	Act/ct		1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3			14/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	49	76494996	76494996	A	-	1	0	1	0	1	0	0	0	0	3431	391	14	0		0	CNTNAP4	16	76494996	Frame_Shift_Del	DEL	A	C3N-00546_TP	11512864	76494996	13843349	119	15432											
FOXL1	0	.	GRCh38	chr16	86579526	86579526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatagacagcatcctggCgggaaagcagggccagaagc	13	3	14	11	1	0	2	0	0	0	2	1	3	1	3	2	3	4	3	2	3	3	1	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.803C>T	p.Ala268Val	p.A268V	ENST00000320241	1/1	222	197	25	187	186	1	strelka-varscan-mutect	FOXL1,missense_variant,p.Ala268Val,ENST00000320241,NM_005250.2;FOXL1,downstream_gene_variant,,ENST00000593625,;	T	ENST00000320241	Transcript	missense_variant	1021/3655	803/1038	268/345	A/V	gCg/gTg		1		1	FOXL1	HGNC	HGNC:3817	protein_coding	YES	CCDS10959.1	ENSP00000326272	Q12952		UPI000012ADE2	NM_005250.2	deleterious(0.01)		1/1		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF204																	MODERATE	1	SNV				1										PASS		rs1315784346	.												T	3	4	49	86579526	86579526	C	T	1	0	0	0	0	1	0	0	0	5879	768	27	1		1	FOXL1	16	86579526	Missense_Mutation	SNP	C	C3N-00546_TP	10084530	86579526	3758819	120	15433											
TP53	0	.	GRCh38	chr17	7674252	7674252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgcaggaactgttacaCatgtagttgtagtggatggt	10	12	12	7	0	0	0	0	0	0	0	0	2	0	2	1	3	3	5	1	3	4	4	rs587782664		C3N-00546_TP	C3N-00546_NB	C	C																c.711G>T	p.Met237Ile	p.M237I	ENST00000269305	7/11	311	221	90	337	336	1	strelka-varscan-mutect	TP53,missense_variant,p.Met237Ile,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Met237Ile,ENST00000420246,;TP53,missense_variant,p.Met198Ile,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Met198Ile,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Met237Ile,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Met198Ile,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Met237Ile,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Met198Ile,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Met237Ile,ENST00000445888,;TP53,missense_variant,p.Met198Ile,ENST00000619485,;TP53,missense_variant,p.Met105Ile,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Met78Ile,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Met105Ile,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Met78Ile,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Met105Ile,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Met78Ile,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Met237Ile,ENST00000359597,;TP53,missense_variant,p.Met226Ile,ENST00000615910,;TP53,missense_variant,p.Met237Ile,ENST00000413465,;TP53,missense_variant,p.Met105Ile,ENST00000509690,;TP53,missense_variant,p.Met144Ile,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Met198Ile,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	901/2579	711/1182	237/393	M/I	atG/atT	rs587782664,CM011014,TP53_g.13348G>C,TP53_g.13348G>T,TP53_g.13348G>A,TP53_g.13348del,COSM10834,COSM11063,COSM1189384,COSM1189385,COSM1189386,COSM1640834,COSM1640835,COSM301402,COSM301403,COSM301404,COSM3378348,COSM3378444,COSM44415,COSM5249615,COSM5249616,COSM99646,COSM99647,COSM99648	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										likely_pathogenic	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs587782664	.												A	3	1	49	7674252	7674252	C	A	1	0	0	0	0	1	0	0	0	16859	478	17	2		2	TP53	17	7674252	Missense_Mutation	SNP	C	C3N-00546_TP		7674252	75583189	121	15434											
RAI1	0	.	GRCh38	chr17	17798223	17798223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccccccaggcctgacGgcccagctgacccggccaag	8	2	13	18	2	0	2	0	2	0	0	0	3	0	3	7	4	2	1	7	4	2	0	rs777108697		C3N-00546_TP	C3N-00546_NB	G	G																c.5275G>T	p.Gly1759Cys	p.G1759C	ENST00000353383	3/6	137	89	48	162	162	0	strelka-varscan-mutect	RAI1,missense_variant,p.Gly1759Cys,ENST00000353383,NM_030665.3;RAI1,downstream_gene_variant,,ENST00000395774,;RAI1,upstream_gene_variant,,ENST00000583166,;	T	ENST00000353383	Transcript	missense_variant	5744/7662	5275/5721	1759/1906	G/C	Ggc/Tgc	rs777108697	1		1	RAI1	HGNC	HGNC:9834	protein_coding	YES	CCDS11188.1	ENSP00000323074	Q7Z5J4		UPI0000200AAF	NM_030665.3	deleterious(0.01)		3/6		hmmpanther:PTHR14955:SF6,hmmpanther:PTHR14955																	MODERATE	1	SNV	1			1										PASS		rs777108697	.												T	3	4	49	17798223	17798223	G	T	1	0	0	0	0	1	0	0	0	13166	1116	39	1		1	RAI1	17	17798223	Missense_Mutation	SNP	G	C3N-00546_TP	10123971	17798223	65459218	122	15435											
NF1	0	.	GRCh38	chr17	31201068	31201068	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatccaagtaagccattctCaagaggcagtcagcctgcag	13	8	9	11	0	2	1	2	0	1	1	4	1	3	1	3	1	3	3	3	1	4	3	rs864622107		C3N-00546_TP	C3N-00546_NB	C	C																c.1094C>G	p.Ser365Ter	p.S365*	ENST00000358273	10/58	421	341	80	405	405	0	strelka-varscan-mutect	NF1,stop_gained,p.Ser365Ter,ENST00000358273,NM_001042492.2;NF1,stop_gained,p.Ser365Ter,ENST00000356175,NM_000267.3;NF1,stop_gained,p.Ser31Ter,ENST00000456735,;NF1,stop_gained,p.Ser365Ter,ENST00000431387,NM_001128147.2;NF1,stop_gained,p.Ser399Ter,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;	G	ENST00000358273	Transcript	stop_gained	1477/12425	1094/8520	365/2839	S/*	tCa/tGa	rs864622107,CM119586	1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2			10/58		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF90										pathogenic							HIGH	1	SNV	1		1,1	1										PASS		rs864622107	.												G	4	3	49	31201068	31201068	C	G	1	0	0	0	0	0	1	0	0	10393	838	29	4		4	NF1	17	31201068	Nonsense_Mutation	SNP	C	C3N-00546_TP	13402845	31201068	52056373	123	15436											
RARA	0	.	GRCh38	chr17	40352373	40352373	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctggacattgacctcTgggacaagttcagtgaactc	9	12	9	11	0	4	2	1	2	3	0	6	4	4	4	1	2	1	1	1	2	2	2	rs201919660		C3N-00546_TP	C3N-00546_NB	T	T																c.673T>A	p.Trp225Arg	p.W225R	ENST00000254066	6/9	106	85	21	73	73	0	strelka-mutect	RARA,missense_variant,p.Trp128Arg,ENST00000425707,NM_001145302.2;RARA,missense_variant,p.Trp225Arg,ENST00000254066,NM_000964.3;RARA,missense_variant,p.Trp220Arg,ENST00000394081,NM_001024809.3;RARA,missense_variant,p.Trp225Arg,ENST00000394089,NM_001145301.2;RARA,missense_variant,p.Trp241Arg,ENST00000394086,;RARA,missense_variant,p.Trp106Arg,ENST00000475125,;RARA,downstream_gene_variant,,ENST00000577646,;RARA,non_coding_transcript_exon_variant,,ENST00000420042,;CTD-2267D19.1,upstream_gene_variant,,ENST00000623156,;RARA,downstream_gene_variant,,ENST00000579727,;	A	ENST00000254066	Transcript	missense_variant	1128/2414	673/1389	225/462	W/R	Tgg/Agg	rs201919660	1		1	RARA	HGNC	HGNC:9864	protein_coding	YES	CCDS11366.1	ENSP00000254066	P10276	Q6I9R7	UPI0000134A0E	NM_000964.3	deleterious(0)		6/9		Gene3D:1.10.565.10,Prints_domain:PR01292,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF115,Superfamily_domains:SSF48508																	MODERATE	1	SNV	1			1										PASS		rs201919660	.												A	3	1	49	40352373	40352373	T	A	1	0	0	0	0	1	0	0	0	13211	1580	55	4		4	RARA	17	40352373	Missense_Mutation	SNP	T	C3N-00546_TP	9151305	40352373	42905068	124	15437											
FAM187A	0	.	GRCh38	chr17	44904501	44904501	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgtgccaaggaagctgcgGaccaaggccagggaccacac	11	3	14	13	1	0	0	0	0	0	0	0	3	0	3	4	4	3	2	4	4	3	0	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.672G>T	p.=	p.R224R	ENST00000331733	4/4	112	87	25	74	74	0	strelka-varscan-mutect	FAM187A,synonymous_variant,p.=,ENST00000331733,;CCDC103,3_prime_UTR_variant,,ENST00000417826,;EFTUD2,upstream_gene_variant,,ENST00000426333,NM_004247.3;GFAP,downstream_gene_variant,,ENST00000253408,NM_002055.4;FAM187A,downstream_gene_variant,,ENST00000412523,NM_001258399.1,NM_001258396.1,NM_213607.2,NM_001258395.1;CCDC103,downstream_gene_variant,,ENST00000410006,;CCDC103,downstream_gene_variant,,ENST00000357776,NM_001258398.1;CCDC103,downstream_gene_variant,,ENST00000577339,;CCDC103,downstream_gene_variant,,ENST00000410027,NM_001258397.1;GFAP,downstream_gene_variant,,ENST00000588735,;GFAP,downstream_gene_variant,,ENST00000591880,;GFAP,downstream_gene_variant,,ENST00000586125,;AC015936.3,non_coding_transcript_exon_variant,,ENST00000441312,;GFAP,downstream_gene_variant,,ENST00000592706,;GFAP,downstream_gene_variant,,ENST00000588640,;GFAP,downstream_gene_variant,,ENST00000592065,;GFAP,downstream_gene_variant,,ENST00000589701,;GFAP,downstream_gene_variant,,ENST00000585543,;	T	ENST00000331733	Transcript	synonymous_variant	2508/3397	672/1242	224/413	R	cgG/cgT		1		1	FAM187A	HGNC	HGNC:35153	protein_coding			ENSP00000329499	A6NFU0		UPI000013E667				4/4		hmmpanther:PTHR32178,hmmpanther:PTHR32178:SF7																	LOW		SNV	1			1										PASS		.	.												T	2	4	49	44904501	44904501	G	T	1	0	0	0	0	0	0	0	1	5363	1161	41	2		2	FAM187A	17	44904501	Silent	SNP	G	C3N-00546_TP	4552128	44904501	38352940	125	15438											
COL1A1	0	.	GRCh38	chr17	50193037	50193037	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacctcgctctccagccttgCcgggctctccctgtggagaa	5	9	10	17	2	2	1	0	0	2	1	5	2	2	1	5	2	2	2	5	2	1	1	rs72651613		C3N-00546_TP	C3N-00546_NB	C	C																c.1778G>C	p.Gly593Ala	p.G593A	ENST00000225964	26/51	368	314	54	284	284	0	strelka-varscan-mutect	COL1A1,missense_variant,p.Gly593Ala,ENST00000225964,NM_000088.3;COL1A1,non_coding_transcript_exon_variant,,ENST00000476387,;COL1A1,downstream_gene_variant,,ENST00000471344,;COL1A1,upstream_gene_variant,,ENST00000486572,;COL1A1,upstream_gene_variant,,ENST00000511732,;COL1A1,downstream_gene_variant,,ENST00000463440,;COL1A1,downstream_gene_variant,,ENST00000495677,;COL1A1,upstream_gene_variant,,ENST00000504289,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;	G	ENST00000225964	Transcript	missense_variant	1897/6727	1778/4395	593/1464	G/A	gGc/gCc	rs72651613,CM070701	1		-1	COL1A1	HGNC	HGNC:2197	protein_coding	YES	CCDS11561.1	ENSP00000225964	P02452		UPI0000DACAC3	NM_000088.3	deleterious(0)		26/51		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF569,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1		0,1	1										PASS		rs72651613	.												G	3	3	49	50193037	50193037	C	G	1	0	0	0	0	1	0	0	0	3465	739	26	4		4	COL1A1	17	50193037	Missense_Mutation	SNP	C	C3N-00546_TP	5288536	50193037	33064404	126	15439											
ARSG	0	.	GRCh38	chr17	68307515	68307516	+	Frame_Shift_Ins	INS	-	-	T																															gggctggctttttctaaaggINSttttgttggcgggagtgagt																								novel		C3N-00546_TP	C3N-00546_NB	-	-																c.26dupT	p.Leu9PhefsTer37	p.L9Ffs*37	ENST00000448504	2/12	123	96	27	112	112	0	sindel-varindel-pindel	ARSG,frameshift_variant,p.Leu9PhefsTer37,ENST00000448504,NM_014960.4;ARSG,frameshift_variant,p.Leu9PhefsTer37,ENST00000621439,NM_001267727.1;ARSG,frameshift_variant,p.Leu9PhefsTer?,ENST00000581639,;ARSG,intron_variant,,ENST00000452479,;	T	ENST00000448504	Transcript	frameshift_variant	818-819/4642	22-23/1578	8/525	V/VX	gtt/gTtt		1		1	ARSG	HGNC	HGNC:24102	protein_coding	YES	CCDS11676.1	ENSP00000407193	Q96EG1	A0A024R8K1	UPI000003FD81	NM_014960.4			2/12		hmmpanther:PTHR10342:SF231,hmmpanther:PTHR10342																	HIGH	1	insertion	1	4		1										PASS		.	.												T	7	5	49	68307515	68307515	-	T	1	0	1	1	0	0	0	0	0	1135	1261	44	0		0	ARSG	17	68307515	Frame_Shift_Ins	INS	-	C3N-00546_TP	18114478	68307515	14949926	127	15440											
APC2	0	.	GRCh38	chr19	1469920	1469920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaccaactccagcacgtccCcgagcctggagaccagggag	11	3	12	15	2	0	2	0	0	0	2	2	5	2	3	6	2	3	1	6	2	1	0	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.6619C>A	p.Pro2207Thr	p.P2207T	ENST00000535453	14/14	142	85	57	125	125	0	strelka-varscan-mutect	APC2,missense_variant,p.Pro2207Thr,ENST00000535453,;APC2,missense_variant,p.Pro2207Thr,ENST00000233607,NM_005883.2;C19orf25,intron_variant,,ENST00000588427,;C19orf25,downstream_gene_variant,,ENST00000436106,;APC2,downstream_gene_variant,,ENST00000238483,;APC2,downstream_gene_variant,,ENST00000590469,;C19orf25,downstream_gene_variant,,ENST00000588871,;C19orf25,downstream_gene_variant,,ENST00000585675,NM_152482.2;C19orf25,downstream_gene_variant,,ENST00000588849,;C19orf25,downstream_gene_variant,,ENST00000427685,;C19orf25,downstream_gene_variant,,ENST00000592872,;C19orf25,downstream_gene_variant,,ENST00000586564,;C19orf25,downstream_gene_variant,,ENST00000590621,;APC2,downstream_gene_variant,,ENST00000593146,;C19orf25,downstream_gene_variant,,ENST00000592486,;	A	ENST00000535453	Transcript	missense_variant	8332/11656	6619/6912	2207/2303	P/T	Ccg/Acg		1		1	APC2	HGNC	HGNC:24036	protein_coding	YES	CCDS12068.1	ENSP00000442954	O95996		UPI0000073D85		deleterious(0)		14/14		hmmpanther:PTHR12607:SF3,hmmpanther:PTHR12607																	MODERATE	1	SNV	1			1										PASS		rs1328323543	.												A	3	1	49	1469920	1469920	C	A	1	0	0	0	0	1	0	0	0	884	623	22	2		2	APC2	19	1469920	Missense_Mutation	SNP	C	C3N-00546_TP		1469920	57147696	128	15441											
MYO1F	0	.	GRCh38	chr19	8522794	8522794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggggcagggggccccCtctggcagaggggggcaccc	5	3	18	15	0	1	1	0	0	1	1	2	1	2	1	4	8	0	3	4	8	0	0	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.2890G>A	p.Gly964Arg	p.G964R	ENST00000338257	26/28	173	114	59	114	114	0	strelka-varscan-mutect	MYO1F,missense_variant,p.Gly964Arg,ENST00000338257,NM_012335.3;MYO1F,missense_variant,p.Gly964Arg,ENST00000613525,;MYO1F,downstream_gene_variant,,ENST00000598005,;MYO1F,downstream_gene_variant,,ENST00000600885,;MYO1F,downstream_gene_variant,,ENST00000596245,;	T	ENST00000338257	Transcript	missense_variant	3158/4303	2890/3297	964/1098	G/R	Ggg/Agg		1		-1	MYO1F	HGNC	HGNC:7600	protein_coding	YES	CCDS42494.1	ENSP00000344871	O00160		UPI00001678F0	NM_012335.3	tolerated(0.25)		26/28																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	49	8522794	8522794	C	T	1	0	0	0	0	1	0	0	0	10074	681	24	3		3	MYO1F	19	8522794	Missense_Mutation	SNP	C	C3N-00546_TP	7052874	8522794	50094822	129	15442											
MUC16	0	.	GRCh38	chr19	8978750	8978750	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgtctcttcccctgatgGagatggatgagtcagagggg	7	11	15	8	0	2	4	1	2	1	2	4	6	3	5	2	4	1	1	2	4	0	1	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.2389C>A	p.Pro797Thr	p.P797T	ENST00000397910	1/84	191	130	61	166	166	0	strelka-varscan-mutect	MUC16,missense_variant,p.Pro797Thr,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	2593/43816	2389/43524	797/14507	P/T	Cca/Aca		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	49	8978750	8978750	G	T	1	0	0	0	0	1	0	0	0	9972	1174	41	2		2	MUC16	19	8978750	Missense_Mutation	SNP	G	C3N-00546_TP	455956	8978750	49638866	130	15443											
NPHS1	0	.	GRCh38	chr19	35851612	35851612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccctccaccaccgtcaggTtttcaggcagggcccagaag	8	6	10	17	1	2	1	2	0	0	1	3	1	3	1	6	3	0	2	6	3	1	2	novel		C3N-00546_TP	C3N-00546_NB	T	T																c.119A>G	p.Asn40Ser	p.N40S	ENST00000378910	2/29	739	630	109	552	551	1	strelka-varscan-mutect	NPHS1,missense_variant,p.Asn40Ser,ENST00000378910,NM_004646.3;NPHS1,missense_variant,p.Asn40Ser,ENST00000353632,;KIRREL2,upstream_gene_variant,,ENST00000592409,;KIRREL2,upstream_gene_variant,,ENST00000586102,;NPHS1,downstream_gene_variant,,ENST00000591817,;NPHS1,upstream_gene_variant,,ENST00000592132,;	C	ENST00000378910	Transcript	missense_variant	119/4276	119/3726	40/1241	N/S	aAc/aGc		1		-1	NPHS1	HGNC	HGNC:7908	protein_coding	YES	CCDS32996.1	ENSP00000368190	O60500		UPI000004EF61	NM_004646.3	deleterious(0)		2/29		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF31,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs891201320	.												C	3	2	49	35851612	35851612	T	C	1	0	0	0	0	1	0	0	0	10630	1725	60	5		5	NPHS1	19	35851612	Missense_Mutation	SNP	T	C3N-00546_TP	26872862	35851612	22766004	131	15444											
ECH1	0	.	GRCh38	chr19	38831452	38831452	+	Frame_Shift_Del	DEL	T	T	-																															gctactccggaagcctcctcTtgtgcagaggagccagtgag																								rs11549279		C3N-00546_TP	C3N-00546_NB	T	T																c.117delA	p.Glu40ArgfsTer6	p.E40Rfs*6	ENST00000221418	2/10	203	167	36	169	169	0	sindel-varindel-pindel	ECH1,frameshift_variant,p.Glu40ArgfsTer6,ENST00000221418,NM_001398.2;AC104534.3,frameshift_variant,p.Glu210ArgfsTer6,ENST00000594769,;ECH1,frameshift_variant,p.Glu37ArgfsTer6,ENST00000601778,;ECH1,frameshift_variant,p.Glu40ArgfsTer6,ENST00000595470,;ECH1,frameshift_variant,p.Gln70GlnfsTer?,ENST00000602115,;ECH1,5_prime_UTR_variant,,ENST00000601094,;ECH1,5_prime_UTR_variant,,ENST00000595567,;AC104534.3,intron_variant,,ENST00000602021,;ECH1,intron_variant,,ENST00000597205,;HNRNPL,downstream_gene_variant,,ENST00000221419,NM_001533.2;HNRNPL,downstream_gene_variant,,ENST00000601449,;ECH1,intron_variant,,ENST00000597805,;ECH1,3_prime_UTR_variant,,ENST00000594164,;ECH1,non_coding_transcript_exon_variant,,ENST00000600178,;ECH1,non_coding_transcript_exon_variant,,ENST00000598707,;ECH1,non_coding_transcript_exon_variant,,ENST00000601060,;ECH1,non_coding_transcript_exon_variant,,ENST00000598316,;HNRNPL,downstream_gene_variant,,ENST00000597731,;HNRNPL,downstream_gene_variant,,ENST00000595164,;HNRNPL,downstream_gene_variant,,ENST00000595443,;HNRNPL,downstream_gene_variant,,ENST00000388749,;HNRNPL,downstream_gene_variant,,ENST00000595804,;ECH1,upstream_gene_variant,,ENST00000596118,;ECH1,upstream_gene_variant,,ENST00000597089,;	-	ENST00000221418	Transcript	frameshift_variant	350/1411	117/987	39/328	Q/X	caA/ca	rs11549279	1		-1	ECH1	HGNC	HGNC:3149	protein_coding	YES	CCDS33014.1	ENSP00000221418	Q13011		UPI0000071141	NM_001398.2			2/10																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	49	38831452	38831452	T	-	1	0	1	0	1	0	0	0	0	4718	1606	56	0		0	ECH1	19	38831452	Frame_Shift_Del	DEL	T	C3N-00546_TP	2979840	38831452	19786164	132	15445											
HIPK4	0	.	GRCh38	chr19	40389754	40389754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagctcgttcttgatgatgCggttgcggtaggcgtcattc	5	14	13	9	4	3	2	2	2	1	0	5	2	3	2	0	3	3	4	0	3	1	5	rs146668696		C3N-00546_TP	C3N-00546_NB	C	C																c.149G>A	p.Arg50His	p.R50H	ENST00000291823	1/4	468	428	40	370	370	0	strelka-varscan-mutect	HIPK4,missense_variant,p.Arg50His,ENST00000291823,NM_144685.4;PRX,downstream_gene_variant,,ENST00000291825,NM_020956.2;PRX,downstream_gene_variant,,ENST00000324001,NM_181882.2;	T	ENST00000291823	Transcript	missense_variant	434/2452	149/1851	50/616	R/H	cGc/cAc	rs146668696	1		-1	HIPK4	HGNC	HGNC:19007	protein_coding	YES	CCDS12555.1	ENSP00000291823	Q8NE63	A0A140VJL1	UPI000006DCD3	NM_144685.4	deleterious(0.05)		1/4		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF46,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs146668696	.												T	3	4	49	40389754	40389754	C	T	1	0	0	0	0	1	0	0	0	7007	768	27	1		1	HIPK4	19	40389754	Missense_Mutation	SNP	C	C3N-00546_TP	1558302	40389754	18227862	133	15446											
ZNF614	0	.	GRCh38	chr19	52017124	52017124	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgttttctcacctccaatAaactcaacagggttatttat	12	15	5	9	0	2	0	2	0	1	0	4	0	3	0	2	1	2	2	2	1	6	6	novel		C3N-00546_TP	C3N-00546_NB	A	A																c.474T>C	p.=	p.F158F	ENST00000270649	5/5	339	303	36	354	354	0	strelka-varscan-mutect	ZNF614,synonymous_variant,p.=,ENST00000270649,NM_025040.3;ZNF614,synonymous_variant,p.=,ENST00000356322,;ZNF614,downstream_gene_variant,,ENST00000597952,;ZNF614,3_prime_UTR_variant,,ENST00000595189,;	G	ENST00000270649	Transcript	synonymous_variant	1019/4818	474/1758	158/585	F	ttT/ttC		1		-1	ZNF614	HGNC	HGNC:24722	protein_coding	YES	CCDS12847.1	ENSP00000270649	Q8N883		UPI0000202ADA	NM_025040.3			5/5		hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF110																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	49	52017124	52017124	A	G	1	0	0	0	0	0	0	0	1	18614	359	13	5		5	ZNF614	19	52017124	Silent	SNP	A	C3N-00546_TP	11627370	52017124	6600492	134	15447											
CNOT3	0	.	GRCh38	chr19	54148485	54148485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcggagggagcagcagcaGtagtaacagcagtgccggtg	11	4	18	8	2	0	0	0	0	0	0	0	2	0	2	1	4	6	6	1	4	2	2	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.1232G>T	p.Ser411Ile	p.S411I	ENST00000358389	10/17	51	45	6	53	53	0	strelka-mutect	CNOT3,missense_variant,p.Ser411Ile,ENST00000358389,;CNOT3,missense_variant,p.Ser411Ile,ENST00000221232,NM_014516.3;CNOT3,missense_variant,p.Ser230Ile,ENST00000447684,;CNOT3,missense_variant,p.Ser333Ile,ENST00000440571,;CNOT3,upstream_gene_variant,,ENST00000457463,;CNOT3,upstream_gene_variant,,ENST00000496327,;CNOT3,3_prime_UTR_variant,,ENST00000613073,;CNOT3,non_coding_transcript_exon_variant,,ENST00000618939,;CNOT3,upstream_gene_variant,,ENST00000617930,;	T	ENST00000358389	Transcript	missense_variant	2815/4118	1232/2262	411/753	S/I	aGt/aTt		1		1	CNOT3	HGNC	HGNC:7879	protein_coding	YES	CCDS12880.1	ENSP00000351159	O75175	A0A024R4R3	UPI00000729AD		tolerated(0.18)		10/17		PIRSF_domain:PIRSF005290,hmmpanther:PTHR23326,hmmpanther:PTHR23326:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	49	54148485	54148485	G	T	1	0	0	0	0	1	0	0	0	3400	1029	36	2		2	CNOT3	19	54148485	Missense_Mutation	SNP	G	C3N-00546_TP	2131361	54148485	4469131	135	15448											
ZNF787	0	.	GRCh38	chr19	56088958	56088958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggctaaagctcttgcCacactcgttgcagatgtagg	9	10	11	11	1	1	1	0	0	1	1	2	1	1	1	2	2	3	5	2	2	3	4	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.214G>T	p.Gly72Cys	p.G72C	ENST00000610935	3/3	53	48	5	59	59	0	strelka-varscan-mutect	ZNF787,missense_variant,p.Gly72Cys,ENST00000610935,NM_001002836.3;ZNF787,downstream_gene_variant,,ENST00000586787,;	A	ENST00000610935	Transcript	missense_variant	333/1925	214/1149	72/382	G/C	Ggc/Tgc		1		-1	ZNF787	HGNC	HGNC:26998	protein_coding	YES	CCDS42634.1	ENSP00000478557		A0A087WUD1	UPI0001596896	NM_001002836.3	deleterious(0)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24408:SF1,hmmpanther:PTHR24408,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	49	56088958	56088958	C	A	1	0	0	0	0	1	0	0	0	18743	594	21	2		2	ZNF787	19	56088958	Missense_Mutation	SNP	C	C3N-00546_TP	1940473	56088958	2528658	136	15449											
ZNF419	0	.	GRCh38	chr19	57493136	57493136	+	Missense_Mutation	SNP	G	G	T																															cataggagctccaaaagtagGgaggcctttcatgctggaaa																								novel		C3N-00546_TP	C3N-00546_NB	G	G																c.582G>T	p.Arg194Ser	p.R194S	ENST00000424930	5/5	363	294	69	461	460	1	strelka-varscan-mutect	ZNF419,missense_variant,p.Arg161Ser,ENST00000347466,NM_001098494.1,NM_001291743.1;ZNF419,missense_variant,p.Arg194Ser,ENST00000424930,NM_001098491.1;ZNF419,missense_variant,p.Arg181Ser,ENST00000426954,NM_001098492.1;ZNF419,missense_variant,p.Arg193Ser,ENST00000221735,NM_024691.3;ZNF419,missense_variant,p.Arg147Ser,ENST00000415379,NM_001098496.1,NM_001098495.1;ZNF419,missense_variant,p.Arg180Ser,ENST00000442920,NM_001098493.1;ZNF419,missense_variant,p.Arg181Ser,ENST00000354197,;ZNF419,missense_variant,p.Arg193Ser,ENST00000618093,;ZNF419,missense_variant,p.Arg160Ser,ENST00000521137,;ZNF419,downstream_gene_variant,,ENST00000518999,;ZNF419,downstream_gene_variant,,ENST00000523882,;ZNF419,downstream_gene_variant,,ENST00000523312,;ZNF419,downstream_gene_variant,,ENST00000520540,;ZNF419,downstream_gene_variant,,ENST00000519310,;ZNF419,downstream_gene_variant,,ENST00000521754,;ZNF419,downstream_gene_variant,,ENST00000523138,;ZNF419,non_coding_transcript_exon_variant,,ENST00000522346,;ZNF419,non_coding_transcript_exon_variant,,ENST00000523439,;AC003005.4,intron_variant,,ENST00000601674,;AC003005.4,intron_variant,,ENST00000599674,;	T	ENST00000424930	Transcript	missense_variant	811/2323	582/1536	194/511	R/S	agG/agT		1		1	ZNF419	HGNC	HGNC:20648	protein_coding	YES	CCDS54325.1	ENSP00000388864	Q96HQ0		UPI0000E04CBA	NM_001098491.1	tolerated(0.52)		5/5		hmmpanther:PTHR24387:SF195,hmmpanther:PTHR24387																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	49	57493136	57493136	G	T	1	0	0	0	0	1	0	0	0	18468	1223	43	2		2	ZNF419	19	57493136	Missense_Mutation	SNP	G	C3N-00546_TP	1404178	57493136	1124480	137	15450	330	2									
ZNF419	0	.	GRCh38	chr19	57493137	57493137	+	Nonsense_Mutation	SNP	G	G	T																															ataggagctccaaaagtaggGaggcctttcatgctggaaaa																								novel		C3N-00546_TP	C3N-00546_NB	G	G																c.583G>T	p.Glu195Ter	p.E195*	ENST00000424930	5/5	367	299	68	464	464	0	strelka-varscan-mutect	ZNF419,stop_gained,p.Glu162Ter,ENST00000347466,NM_001098494.1,NM_001291743.1;ZNF419,stop_gained,p.Glu195Ter,ENST00000424930,NM_001098491.1;ZNF419,stop_gained,p.Glu182Ter,ENST00000426954,NM_001098492.1;ZNF419,stop_gained,p.Glu194Ter,ENST00000221735,NM_024691.3;ZNF419,stop_gained,p.Glu148Ter,ENST00000415379,NM_001098496.1,NM_001098495.1;ZNF419,stop_gained,p.Glu181Ter,ENST00000442920,NM_001098493.1;ZNF419,stop_gained,p.Glu182Ter,ENST00000354197,;ZNF419,stop_gained,p.Glu194Ter,ENST00000618093,;ZNF419,stop_gained,p.Glu161Ter,ENST00000521137,;ZNF419,downstream_gene_variant,,ENST00000518999,;ZNF419,downstream_gene_variant,,ENST00000523882,;ZNF419,downstream_gene_variant,,ENST00000523312,;ZNF419,downstream_gene_variant,,ENST00000520540,;ZNF419,downstream_gene_variant,,ENST00000519310,;ZNF419,downstream_gene_variant,,ENST00000521754,;ZNF419,downstream_gene_variant,,ENST00000523138,;ZNF419,non_coding_transcript_exon_variant,,ENST00000522346,;ZNF419,non_coding_transcript_exon_variant,,ENST00000523439,;AC003005.4,intron_variant,,ENST00000601674,;AC003005.4,intron_variant,,ENST00000599674,;	T	ENST00000424930	Transcript	stop_gained	812/2323	583/1536	195/511	E/*	Gag/Tag		1		1	ZNF419	HGNC	HGNC:20648	protein_coding	YES	CCDS54325.1	ENSP00000388864	Q96HQ0		UPI0000E04CBA	NM_001098491.1			5/5		hmmpanther:PTHR24387:SF195,hmmpanther:PTHR24387																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	49	57493137	57493137	G	T	1	0	0	0	0	0	1	0	0	18468	1175	41	2		2	ZNF419	19	57493137	Nonsense_Mutation	SNP	G	C3N-00546_TP	1	57493137	1124479	138	15451	330	2									
ZSCAN22	0	.	GRCh38	chr19	58339246	58339246	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagagaagccttataagTgcagcgactgtgggaaggcc	11	6	16	8	2	0	1	0	0	0	1	0	5	0	3	2	3	3	1	2	3	4	2	rs754224592		C3N-00546_TP	C3N-00546_NB	T	T																c.1396T>G	p.Cys466Gly	p.C466G	ENST00000329665	3/3	162	114	48	124	124	0	strelka-varscan-mutect	ZSCAN22,missense_variant,p.Cys466Gly,ENST00000329665,NM_001321117.1,NM_001321116.1,NM_181846.2;MIR6806,downstream_gene_variant,,ENST00000622141,;	G	ENST00000329665	Transcript	missense_variant	1543/4629	1396/1476	466/491	C/G	Tgc/Ggc	rs754224592	1		1	ZSCAN22	HGNC	HGNC:4929	protein_coding	YES	CCDS12975.1	ENSP00000332433	P10073		UPI00001A9CCE	NM_001321117.1,NM_001321116.1,NM_181846.2	deleterious(0)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR23226:SF59,hmmpanther:PTHR23226,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs754224592	.												G	3	3	49	58339246	58339246	T	G	1	0	0	0	0	1	0	0	0	18828	1696	59	5		5	ZSCAN22	19	58339246	Missense_Mutation	SNP	T	C3N-00546_TP	846109	58339246	278370	139	15452											
RALGAPA2	0	.	GRCh38	chr20	20412084	20412084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gacttgggctgcgaaatcctCgaatgtcattacttcgcggt	8	12	11	10	4	1	0	1	0	0	0	4	3	2	0	1	2	2	1	1	2	3	3			C3N-00546_TP	C3N-00546_NB	C	C																c.5560G>C	p.Glu1854Gln	p.E1854Q	ENST00000202677	38/40	350	304	46	307	307	0	strelka-varscan-mutect	RALGAPA2,missense_variant,p.Glu1671Gln,ENST00000430436,;RALGAPA2,missense_variant,p.Glu1854Gln,ENST00000202677,NM_020343.3;RALGAPA2,3_prime_UTR_variant,,ENST00000620717,;	G	ENST00000202677	Transcript	missense_variant	5568/6152	5560/5622	1854/1873	E/Q	Gag/Cag	COSM1410684,COSM1410685,COSM5175742	1		-1	RALGAPA2	HGNC	HGNC:16207	protein_coding	YES	CCDS46584.1	ENSP00000202677	Q2PPJ7		UPI000040F987	NM_020343.3	deleterious(0)		38/40		hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2,Superfamily_domains:0043732											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		rs986717961	.												G	3	3	49	20412084	20412084	C	G	1	0	0	0	0	1	0	0	0	13173	893	31	4		4	RALGAPA2	20	20412084	Missense_Mutation	SNP	C	C3N-00546_TP		20412084	44032083	140	15453											
TRPC4AP	0	.	GRCh38	chr20	35069386	35069386	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtaacaaatgccatagcCtccatggagagaagaggaga	16	6	11	8	0	1	3	1	0	0	3	2	6	2	4	3	2	3	1	3	2	4	2	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.324G>A	p.=	p.E108E	ENST00000252015	3/19	201	155	46	168	168	0	strelka-varscan-mutect	TRPC4AP,synonymous_variant,p.=,ENST00000252015,NM_015638.2;TRPC4AP,synonymous_variant,p.=,ENST00000451813,NM_199368.1;	T	ENST00000252015	Transcript	synonymous_variant	414/3226	324/2394	108/797	E	gaG/gaA		1		-1	TRPC4AP	HGNC	HGNC:16181	protein_coding	YES	CCDS13246.1	ENSP00000252015	Q8TEL6		UPI000004FADD	NM_015638.2			3/19		hmmpanther:PTHR31743,hmmpanther:PTHR31743:SF1,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	49	35069386	35069386	C	T	1	0	0	0	0	0	0	0	1	17086	680	24	3		3	TRPC4AP	20	35069386	Silent	SNP	C	C3N-00546_TP	14657302	35069386	29374781	141	15454											
RBBP8NL	0	.	GRCh38	chr20	62414075	62414084	+	Frame_Shift_Del	DEL	GGGCGCGGCC	GGGCGCGGCC	-																															ggctgcagcctctgtcctctGggcgcggcccgggcctgcag																								novel		C3N-00546_TP	C3N-00546_NB	GGGCGCGGCC	GGGCGCGGCC																c.1267_1276delGGCCGCGCCC	p.Gly423ArgfsTer13	p.G423Rfs*13	ENST00000252998	10/14	137	116	21	121	121	0	sindel-varindel	RBBP8NL,frameshift_variant,p.Gly423ArgfsTer13,ENST00000252998,NM_080833.2;	-	ENST00000252998	Transcript	frameshift_variant	1424-1433/2793	1267-1276/1995	423-426/664	GRAQ/X	GGCCGCGCCCag/ag		1		-1	RBBP8NL	HGNC	HGNC:16144	protein_coding	YES	CCDS13498.1	ENSP00000252998	Q8NC74		UPI000013CDA2	NM_080833.2			10/14		hmmpanther:PTHR15107,hmmpanther:PTHR15107:SF3																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	49	62414075	62414075	GGGCGCGGCC	-	1	0	1	0	1	0	0	0	0	13267	1357	47	0		0	RBBP8NL	20	62414075	Frame_Shift_Del	DEL	GGGCGCGGCC	C3N-00546_TP	27344689	62414075	2030092	142	15455											
NEFH	0	.	GRCh38	chr22	29481081	29481081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacgtcggcgctgcgcgaGattcgcgcgcagcttgaagg	6	7	17	11	8	0	3	0	2	0	1	2	4	0	3	0	2	2	3	0	2	1	2			C3N-00546_TP	C3N-00546_NB	G	G																c.819G>A	p.=	p.E273E	ENST00000310624	1/4	307	239	68	518	517	1	strelka-varscan-mutect	NEFH,synonymous_variant,p.=,ENST00000310624,NM_021076.3;AC000035.3,non_coding_transcript_exon_variant,,ENST00000634116,;RFPL1S,upstream_gene_variant,,ENST00000461286,;RFPL1S,upstream_gene_variant,,ENST00000419368,;	A	ENST00000310624	Transcript	synonymous_variant	852/3783	819/3063	273/1020	E	gaG/gaA	COSM5429609	1		1	NEFH	HGNC	HGNC:7737	protein_coding	YES	CCDS13858.1	ENSP00000311997	P12036		UPI00001AEF71	NM_021076.3			1/4		hmmpanther:PTHR23214,hmmpanther:PTHR23214:SF1,Pfam_domain:PF00038,SMART_domains:SM01391											1						LOW	1	SNV	1		1	1										PASS		rs917756240	.												A	2	1	49	29481081	29481081	G	A	1	0	0	0	0	0	0	0	1	10342	933	33	3		3	NEFH	22	29481081	Silent	SNP	G	C3N-00546_TP		29481081	21337387	143	15456											
MYH9	0	.	GRCh38	chr22	36349218	36349218	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacatagagatacttatCggcagcttgctgtgccatgg	10	11	10	10	1	0	1	0	0	0	1	2	2	1	1	2	2	4	3	2	2	3	4	rs762745890		C3N-00546_TP	C3N-00546_NB	C	C																c.19G>T	p.Asp7Tyr	p.D7Y	ENST00000216181	2/41	172	145	27	146	146	0	strelka-varscan-mutect	MYH9,missense_variant,p.Asp7Tyr,ENST00000216181,NM_002473.5;MYH9,missense_variant,p.Asp7Tyr,ENST00000401701,;MYH9,missense_variant,p.Asp7Tyr,ENST00000456729,;	A	ENST00000216181	Transcript	missense_variant	250/7501	19/5883	7/1960	D/Y	Gat/Tat	rs762745890,COSM1033855	1		-1	MYH9	HGNC	HGNC:7579	protein_coding	YES	CCDS13927.1	ENSP00000216181	P35579	A0A024R1N1	UPI000012FB80	NM_002473.5	deleterious(0)		2/41													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs762745890	.												A	3	1	49	36349218	36349218	C	A	1	0	0	0	0	1	0	0	0	10042	884	31	1		1	MYH9	22	36349218	Missense_Mutation	SNP	C	C3N-00546_TP	6868137	36349218	14469250	144	15457											
ARSA	0	.	GRCh38	chr22	50625352	50625352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacaccccccagcaggttGtagttctcaccagggtcctt	7	9	9	16	0	1	0	1	0	1	0	3	0	2	0	6	2	1	4	6	2	1	4	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.1323C>T	p.=	p.Y441Y	ENST00000216124	8/8	70	57	13	50	50	0	strelka-varscan-mutect	ARSA,synonymous_variant,p.=,ENST00000216124,NM_000487.5;ARSA,synonymous_variant,p.=,ENST00000395621,NM_001085425.2;ARSA,synonymous_variant,p.=,ENST00000356098,NM_001085426.2;ARSA,synonymous_variant,p.=,ENST00000395619,NM_001085427.2;ARSA,synonymous_variant,p.=,ENST00000453344,NM_001085428.2;ARSA,upstream_gene_variant,,ENST00000610191,;ARSA,intron_variant,,ENST00000608497,;ARSA,downstream_gene_variant,,ENST00000551731,;	A	ENST00000216124	Transcript	synonymous_variant	1716/2050	1323/1530	441/509	Y	taC/taT		1		-1	ARSA	HGNC	HGNC:713	protein_coding	YES	CCDS14100.2	ENSP00000216124		A0A0C4DFZ2	UPI000013C6C4	NM_000487.5			8/8		Gene3D:3.30.1120.10,Pfam_domain:PF14707,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF229,Superfamily_domains:SSF53649																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	49	50625352	50625352	G	A	1	0	0	0	0	0	0	0	1	1130	1372	48	3		3	ARSA	22	50625352	Silent	SNP	G	C3N-00546_TP	14276134	50625352	193116	145	15458											
HEPH	0	.	GRCh38	chrX	66207272	66207272	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtattcagggaatacaCtgatggtacattcaggatcc	12	11	10	8	0	2	1	2	1	0	0	3	3	3	3	1	3	3	3	1	3	4	5	novel		C3N-00546_TP	C3N-00546_NB	C	C																c.2531C>A	p.Thr844Asn	p.T844N	ENST00000519389	14/21	121	83	38	123	123	0	strelka-varscan-mutect	HEPH,missense_variant,p.Thr844Asn,ENST00000519389,NM_138737.4;HEPH,missense_variant,p.Thr790Asn,ENST00000343002,;HEPH,missense_variant,p.Thr793Asn,ENST00000441993,NM_001130860.3;HEPH,missense_variant,p.Thr523Asn,ENST00000336279,NM_014799.3;HEPH,missense_variant,p.Thr601Asn,ENST00000419594,NM_001282141.1;HEPH,missense_variant,p.Thr747Asn,ENST00000425114,;HEPH,non_coding_transcript_exon_variant,,ENST00000471121,;	A	ENST00000519389	Transcript	missense_variant	2710/6013	2531/3639	844/1212	T/N	aCt/aAt		1		1	HEPH	HGNC	HGNC:4866	protein_coding	YES	CCDS14384.3	ENSP00000430620	Q9BQS7		UPI0001C06560	NM_138737.4	deleterious(0.02)		14/21		hmmpanther:PTHR10127:SF622,hmmpanther:PTHR10127,Gene3D:2.60.40.420,Superfamily_domains:SSF49503																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	49	66207272	66207272	C	A	1	0	0	0	0	1	0	0	0	6938	565	20	2		2	HEPH	23	66207272	Missense_Mutation	SNP	C	C3N-00546_TP		66207272	89833623	146	15459											
IGSF1	0	.	GRCh38	chrX	131275612	131275612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaatgccccgtcattactgGtggatccccagagctgcatt	8	10	11	12	1	1	1	1	0	0	1	2	3	2	3	4	3	4	2	4	3	2	2	novel		C3N-00546_TP	C3N-00546_NB	G	G																c.3065C>A	p.Thr1022Asn	p.T1022N	ENST00000370903	16/20	332	248	84	178	178	0	strelka-varscan-mutect	IGSF1,missense_variant,p.Thr1008Asn,ENST00000370904,;IGSF1,missense_variant,p.Thr1022Asn,ENST00000370903,NM_001170961.1;IGSF1,missense_variant,p.Thr1008Asn,ENST00000370910,NM_001170962.1;IGSF1,missense_variant,p.Thr1017Asn,ENST00000361420,NM_001555.4;IGSF1,downstream_gene_variant,,ENST00000467244,;	T	ENST00000370903	Transcript	missense_variant	3348/4594	3065/4026	1022/1341	T/N	aCc/aAc		1		-1	IGSF1	HGNC	HGNC:5948	protein_coding	YES	CCDS55491.1	ENSP00000359940	Q8N6C5		UPI0000E0C769	NM_001170961.1	tolerated(0.11)		16/20		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF102,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	49	131275612	131275612	G	T	1	0	0	0	0	1	0	0	0	7503	1261	44	2		2	IGSF1	23	131275612	Missense_Mutation	SNP	G	C3N-00546_TP	65068340	131275612	24765283	147	15460											
SRPK3	0	.	GRCh38	chrX	153781554	153781554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcaatgggcggtaccaCgtggtgcgcaaactgggctg	7	9	16	9	3	1	0	1	0	0	0	1	0	1	0	1	4	3	4	1	4	3	2	rs782626255		C3N-00546_TP	C3N-00546_NB	C	C																c.240C>A	p.His80Gln	p.H80Q	ENST00000370101	3/15	131	115	16	46	46	0	strelka-varscan-mutect	SRPK3,missense_variant,p.His147Gln,ENST00000489426,;SRPK3,missense_variant,p.His80Gln,ENST00000370101,NM_014370.3;SRPK3,missense_variant,p.His80Gln,ENST00000393786,NM_001170761.1;SRPK3,missense_variant,p.His80Gln,ENST00000370108,;SRPK3,missense_variant,p.His80Gln,ENST00000370104,NM_001170760.1;SRPK3,missense_variant,p.His38Gln,ENST00000370100,;SRPK3,missense_variant,p.His94Gln,ENST00000430541,;PLXNB3,downstream_gene_variant,,ENST00000538966,NM_001163257.1;PLXNB3,downstream_gene_variant,,ENST00000361971,NM_005393.2;IDH3G,downstream_gene_variant,,ENST00000370092,NM_174869.2;IDH3G,downstream_gene_variant,,ENST00000370093,;IDH3G,downstream_gene_variant,,ENST00000427365,;IDH3G,downstream_gene_variant,,ENST00000217901,NM_004135.3;IDH3G,downstream_gene_variant,,ENST00000619865,;PLXNB3,downstream_gene_variant,,ENST00000411613,;IDH3G,downstream_gene_variant,,ENST00000454076,;PLXNB3,downstream_gene_variant,,ENST00000448847,;PLXNB3,downstream_gene_variant,,ENST00000455214,;SRPK3,upstream_gene_variant,,ENST00000458681,;PLXNB3,downstream_gene_variant,,ENST00000485980,;PLXNB3,downstream_gene_variant,,ENST00000472415,;PLXNB3,downstream_gene_variant,,ENST00000469190,;	A	ENST00000370101	Transcript	missense_variant	286/1958	240/1704	80/567	H/Q	caC/caA	rs782626255,COSM85255,COSM85256	1		1	SRPK3	HGNC	HGNC:11402	protein_coding	YES	CCDS35441.1	ENSP00000359119	Q9UPE1		UPI000050571A	NM_014370.3	tolerated(0.12)		3/15		PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF100,hmmpanther:PTHR24055,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs782626255	.												A	3	1	49	153781554	153781554	C	A	1	0	0	0	0	1	0	0	0	15522	535	19	1		1	SRPK3	23	153781554	Missense_Mutation	SNP	C	C3N-00546_TP	22505942	153781554	2259341	148	15461											
ATAD3B	0	.	GRCh38	chr1	1485799	1485799	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtcagccggcggctcctCagtcgaccccaggacgtgct	6	6	13	16	4	2	0	2	0	0	0	4	2	3	1	4	4	2	2	4	4	0	0			C3N-00547_TP	C3N-00547_NB	C	C																c.924C>G	p.=	p.L308L	ENST00000308647	9/16	269	248	21	277	276	1	varscan-mutect	ATAD3B,synonymous_variant,p.=,ENST00000308647,NM_031921.4;ATAD3B,downstream_gene_variant,,ENST00000378736,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000472194,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000474481,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000485748,;	G	ENST00000308647	Transcript	synonymous_variant	1040/2448	924/1947	308/648	L	ctC/ctG	COSM3930326	1		1	ATAD3B	HGNC	HGNC:24007	protein_coding	YES	CCDS30.1	ENSP00000311766	Q5T9A4		UPI000013E044	NM_031921.4			9/16		hmmpanther:PTHR23075,hmmpanther:PTHR23075:SF2											1						LOW	1	SNV	1		1	1										PASS		.	.												G	2	3	50	1485799	1485799	C	G	1	0	0	0	0	0	0	0	1	1222	813	29	4		4	ATAD3B	1	1485799	Silent	SNP	C	C3N-00547_TP		1485799	247470623	1	15462											
CLSTN1	0	.	GRCh38	chr1	9736029	9736029	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggaaaaactgggtcatGtgcaggtcgccacctttggg	8	9	13	11	2	1	0	1	0	0	0	3	1	1	1	3	4	2	1	3	4	2	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1590C>T	p.=	p.H530H	ENST00000377298	12/19	174	115	59	194	194	0	strelka-varscan-mutect	CLSTN1,synonymous_variant,p.=,ENST00000377298,NM_001302883.1,NM_001009566.2;CLSTN1,synonymous_variant,p.=,ENST00000361311,NM_014944.4;CLSTN1,synonymous_variant,p.=,ENST00000435891,;CLSTN1,upstream_gene_variant,,ENST00000477264,;	A	ENST00000377298	Transcript	synonymous_variant	2383/5221	1590/2946	530/981	H	caC/caT		1		-1	CLSTN1	HGNC	HGNC:17447	protein_coding	YES	CCDS30580.1	ENSP00000366513	O94985		UPI0000127B95	NM_001302883.1,NM_001009566.2			12/19		hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF4,Gene3D:2.60.120.200,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	9736029	9736029	G	A	1	0	0	0	0	0	0	0	1	3333	1368	48	3		3	CLSTN1	1	9736029	Silent	SNP	G	C3N-00547_TP	8250230	9736029	239220393	2	15463											
DISP3	0	.	GRCh38	chr1	11529642	11529642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcctgcttagctccagccCcgatgggcctaccaaaggct	7	8	10	16	1	0	0	0	0	0	0	1	1	1	0	6	2	5	3	6	2	3	2	rs369425675		C3N-00547_TP	C3N-00547_NB	C	C																c.2885C>A	p.Pro962His	p.P962H	ENST00000294484	14/21	90	66	24	90	90	0	strelka-varscan-mutect	DISP3,missense_variant,p.Pro962His,ENST00000294484,NM_020780.1;DISP3,upstream_gene_variant,,ENST00000304391,;	A	ENST00000294484	Transcript	missense_variant	3023/5215	2885/4179	962/1392	P/H	cCc/cAc	rs369425675	1		1	DISP3	HGNC	HGNC:29251	protein_coding	YES	CCDS41247.1	ENSP00000294484	Q9P2K9		UPI00001C1D7A	NM_020780.1	deleterious_low_confidence(0)		14/21																			MODERATE	1	SNV	1			1										PASS		rs369425675	.												A	3	1	50	11529642	11529642	C	A	1	0	0	0	0	1	0	0	0	4347	623	22	2		2	DISP3	1	11529642	Missense_Mutation	SNP	C	C3N-00547_TP	1793613	11529642	237426780	3	15464											
C1orf167	0	.	GRCh38	chr1	11785283	11785283	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgggactgccaggggcCggcaaggtacgccccaagcc	7	3	16	15	3	0	0	0	0	0	0	0	1	0	1	5	6	3	3	5	6	3	1	rs773185522		C3N-00547_TP	C3N-00547_NB	C	C																c.3633C>A	p.=	p.A1211A	ENST00000433342	16/21	88	62	26	88	88	0	strelka-varscan-mutect	C1orf167,synonymous_variant,p.=,ENST00000433342,NM_001010881.1;C1orf167,synonymous_variant,p.=,ENST00000312793,;C1orf167,synonymous_variant,p.=,ENST00000444493,;C1orf167,synonymous_variant,p.=,ENST00000449278,;MTHFR,downstream_gene_variant,,ENST00000376592,;MTHFR,downstream_gene_variant,,ENST00000376583,;MTHFR,downstream_gene_variant,,ENST00000376590,NM_005957.4;MTHFR,downstream_gene_variant,,ENST00000376585,;C1orf167,upstream_gene_variant,,ENST00000482358,;C1orf167,non_coding_transcript_exon_variant,,ENST00000475041,;	A	ENST00000433342	Transcript	synonymous_variant	3633/4545	3633/4407	1211/1468	A	gcC/gcA	rs773185522	1		1	C1orf167	HGNC	HGNC:25262	protein_coding	YES		ENSP00000414909	Q5SNV9		UPI0000DD7886	NM_001010881.1			16/21		hmmpanther:PTHR38493,hmmpanther:PTHR38493:SF1,Pfam_domain:PF15736																	LOW		SNV	5			1										PASS		rs773185522	.												A	2	1	50	11785283	11785283	C	A	1	0	0	0	0	0	0	0	1	1972	639	23	1		1	C1orf167	1	11785283	Silent	SNP	C	C3N-00547_TP	255641	11785283	237171139	4	15465											
CROCC	0	.	GRCh38	chr1	16930301	16930301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggacacagagcacagcCaagacctggaaagcgccctc	13	2	10	16	1	0	2	0	0	0	2	1	4	0	4	4	2	3	1	4	2	2	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.637C>A	p.Gln213Lys	p.Q213K	ENST00000375541	6/37	346	305	41	360	360	0	strelka-varscan-mutect	CROCC,missense_variant,p.Gln213Lys,ENST00000375541,NM_014675.4;CROCC,missense_variant,p.Gln73Lys,ENST00000445545,;CROCC,missense_variant,p.Gln107Lys,ENST00000467938,;CROCC,non_coding_transcript_exon_variant,,ENST00000466256,;CROCC,non_coding_transcript_exon_variant,,ENST00000492631,;	A	ENST00000375541	Transcript	missense_variant	706/6656	637/6054	213/2017	Q/K	Caa/Aaa		1		1	CROCC	HGNC	HGNC:21299	protein_coding	YES	CCDS30616.1	ENSP00000364691	Q5TZA2		UPI000042B0BB	NM_014675.4	tolerated(0.74)		6/37		Pfam_domain:PF15035,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF17																	MODERATE	1	SNV	5			1										PASS		rs1469149650	.												A	3	1	50	16930301	16930301	C	A	1	0	0	0	0	1	0	0	0	3694	595	21	2		2	CROCC	1	16930301	Missense_Mutation	SNP	C	C3N-00547_TP	5145018	16930301	232026121	5	15466											
ACTL8	0	.	GRCh38	chr1	17823219	17823219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaccccatcgagcggggcCgcatcctcaactgggagggt	7	6	14	14	3	1	0	1	0	0	0	3	2	2	1	4	4	3	2	4	4	2	1			C3N-00547_TP	C3N-00547_NB	C	C																c.211C>A	p.Arg71Ser	p.R71S	ENST00000375406	2/3	339	294	45	419	418	1	strelka-varscan-mutect	ACTL8,missense_variant,p.Arg71Ser,ENST00000375406,NM_030812.2;ACTL8,missense_variant,p.Arg71Ser,ENST00000617065,;	A	ENST00000375406	Transcript	missense_variant	427/1861	211/1101	71/366	R/S	Cgc/Agc	COSM5188058	1		1	ACTL8	HGNC	HGNC:24018	protein_coding	YES	CCDS183.1	ENSP00000364555	Q9H568		UPI000007008F	NM_030812.2	tolerated(0.07)		2/3		hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF208,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	50	17823219	17823219	C	A	1	0	0	0	0	1	0	0	0	246	652	23	1		1	ACTL8	1	17823219	Missense_Mutation	SNP	C	C3N-00547_TP	892918	17823219	231133203	6	15467											
ARID1A	0	.	GRCh38	chr1	26779182	26779182	+	Frame_Shift_Del	DEL	G	G	-																															gtccagctcccatggagggtGgggaagaagaagaagaactt																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.5287delG	p.Glu1763LysfsTer7	p.E1763Kfs*7	ENST00000324856	20/20	40	31	9	42	42	0	sindel-pindel	ARID1A,frameshift_variant,p.Glu1763LysfsTer7,ENST00000324856,NM_006015.4;ARID1A,frameshift_variant,p.Glu1381LysfsTer7,ENST00000636219,;ARID1A,frameshift_variant,p.Glu1379LysfsTer7,ENST00000430799,;ARID1A,frameshift_variant,p.Glu1380LysfsTer7,ENST00000374152,;ARID1A,frameshift_variant,p.Glu1546LysfsTer7,ENST00000457599,NM_139135.2;ARID1A,downstream_gene_variant,,ENST00000615191,;ARID1A,downstream_gene_variant,,ENST00000636794,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;ARID1A,non_coding_transcript_exon_variant,,ENST00000637788,;ARID1A,downstream_gene_variant,,ENST00000636072,;	-	ENST00000324856	Transcript	frameshift_variant	5655/8577	5284/6858	1762/2285	G/X	Ggg/gg		1		1	ARID1A	HGNC	HGNC:11110	protein_coding	YES	CCDS285.1	ENSP00000320485	O14497		UPI0000167B91	NM_006015.4			20/20		Low_complexity_(Seg):seg,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	50	26779182	26779182	G	-	1	0	1	0	1	0	0	0	0	1049	1348	47	0		0	ARID1A	1	26779182	Frame_Shift_Del	DEL	G	C3N-00547_TP	8955963	26779182	222177240	7	15468											
SLC9A1	0	.	GRCh38	chr1	27105942	27105942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgaggaacaggtcacaCatggggaagtgcttcttgtc	10	9	14	8	0	2	1	1	1	1	0	3	3	2	3	0	4	2	2	0	4	2	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1428G>T	p.Met476Ile	p.M476I	ENST00000263980	5/12	411	321	90	399	399	0	strelka-varscan-mutect	SLC9A1,missense_variant,p.Met476Ile,ENST00000263980,NM_003047.4;SLC9A1,missense_variant,p.Met476Ile,ENST00000374086,;SLC9A1,upstream_gene_variant,,ENST00000374089,;SLC9A1,upstream_gene_variant,,ENST00000447808,;	A	ENST00000263980	Transcript	missense_variant	2004/4516	1428/2448	476/815	M/I	atG/atT		1		-1	SLC9A1	HGNC	HGNC:11071	protein_coding	YES	CCDS295.1	ENSP00000263980	P19634		UPI000012FD1B	NM_003047.4	deleterious(0.03)		5/12		Pfam_domain:PF00999,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF59,TIGRFAM_domain:TIGR00840																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	27105942	27105942	C	A	1	0	0	0	0	1	0	0	0	14993	478	17	2		2	SLC9A1	1	27105942	Missense_Mutation	SNP	C	C3N-00547_TP	326760	27105942	221850480	8	15469											
SZT2	0	.	GRCh38	chr1	43416084	43416084	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggcactgcagttactacCctcgaactctagtgcaggtc	8	11	9	13	1	1	0	0	0	1	0	3	1	1	0	1	2	5	4	1	2	4	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.755C>A	p.Pro252His	p.P252H	ENST00000562955	6/71	159	114	45	127	127	0	strelka-varscan-mutect	SZT2,missense_variant,p.Pro252His,ENST00000562955,NM_015284.3;SZT2,missense_variant,p.Pro252His,ENST00000634258,;SZT2,upstream_gene_variant,,ENST00000470139,;SZT2,downstream_gene_variant,,ENST00000406439,;	A	ENST00000562955	Transcript	missense_variant	755/12281	755/10128	252/3375	P/H	cCc/cAc		1		1	SZT2	HGNC	HGNC:29040	protein_coding	YES	CCDS30694.2	ENSP00000457168	Q5T011		UPI0001E24F46	NM_015284.3	deleterious(0)		6/71		hmmpanther:PTHR14918																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	43416084	43416084	C	A	1	0	0	0	0	1	0	0	0	15883	623	22	2		2	SZT2	1	43416084	Missense_Mutation	SNP	C	C3N-00547_TP	16310142	43416084	205540338	9	15470											
SZT2	0	.	GRCh38	chr1	43426136	43426136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctccagatgttcttcCtcttgcttgccagaggtagg	7	12	11	11	0	2	2	0	0	2	2	4	2	4	2	3	2	4	5	3	2	1	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.3028C>A	p.Leu1010Ile	p.L1010I	ENST00000562955	21/71	184	101	83	133	132	1	strelka-varscan-mutect	SZT2,missense_variant,p.Leu1010Ile,ENST00000562955,NM_015284.3;SZT2,missense_variant,p.Leu1010Ile,ENST00000634258,;SZT2,non_coding_transcript_exon_variant,,ENST00000470139,;SZT2,upstream_gene_variant,,ENST00000478140,;	A	ENST00000562955	Transcript	missense_variant	3028/12281	3028/10128	1010/3375	L/I	Ctc/Atc		1		1	SZT2	HGNC	HGNC:29040	protein_coding	YES	CCDS30694.2	ENSP00000457168	Q5T011		UPI0001E24F46	NM_015284.3	tolerated(0.36)		21/71		hmmpanther:PTHR14918,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	43426136	43426136	C	A	1	0	0	0	0	1	0	0	0	15883	681	24	2		2	SZT2	1	43426136	Missense_Mutation	SNP	C	C3N-00547_TP	10052	43426136	205530286	10	15471											
SZT2	0	.	GRCh38	chr1	43430355	43430355	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagaaaaatcagtgacctGgagttttcagaggctgagct	13	9	12	7	0	2	4	2	2	0	2	2	6	2	5	1	2	1	3	1	2	2	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.4275G>T	p.=	p.L1425L	ENST00000562955	30/71	114	89	25	112	112	0	strelka-varscan-mutect	SZT2,synonymous_variant,p.=,ENST00000562955,NM_015284.3;SZT2,synonymous_variant,p.=,ENST00000634258,;SZT2,non_coding_transcript_exon_variant,,ENST00000478140,;SZT2,downstream_gene_variant,,ENST00000470139,;	T	ENST00000562955	Transcript	synonymous_variant	4275/12281	4275/10128	1425/3375	L	ctG/ctT		1		1	SZT2	HGNC	HGNC:29040	protein_coding	YES	CCDS30694.2	ENSP00000457168	Q5T011		UPI0001E24F46	NM_015284.3			30/71		hmmpanther:PTHR14918																	LOW	1	SNV	5			1										PASS		rs1394793334	.												T	2	4	50	43430355	43430355	G	T	1	0	0	0	0	0	0	0	1	15883	1335	47	2		2	SZT2	1	43430355	Silent	SNP	G	C3N-00547_TP	4219	43430355	205526067	11	15472											
ST3GAL3	0	.	GRCh38	chr1	43899663	43899663	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcgcgattctctctttgTcctcgccggcttcaagtggc	4	12	11	14	5	3	0	1	0	2	0	6	2	4	0	2	2	1	1	2	2	1	3	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.887T>A	p.Val296Asp	p.V296D	ENST00000262915	10/13	633	353	280	449	449	0	strelka-varscan-mutect	ST3GAL3,missense_variant,p.Val296Asp,ENST00000262915,NM_174963.3;ST3GAL3,missense_variant,p.Val265Asp,ENST00000351035,NM_174971.3;ST3GAL3,missense_variant,p.Val227Asp,ENST00000361392,NM_006279.3;ST3GAL3,missense_variant,p.Val211Asp,ENST00000361400,NM_174969.2;ST3GAL3,missense_variant,p.Val196Asp,ENST00000372374,NM_001270460.1;ST3GAL3,missense_variant,p.Val227Asp,ENST00000353126,NM_174966.2;ST3GAL3,missense_variant,p.Val296Asp,ENST00000361746,;ST3GAL3,missense_variant,p.Val242Asp,ENST00000347631,NM_174964.2;ST3GAL3,missense_variant,p.Val281Asp,ENST00000372368,NM_174968.3;ST3GAL3,missense_variant,p.Val265Asp,ENST00000372372,;ST3GAL3,missense_variant,p.Val227Asp,ENST00000372369,NM_001270459.1;ST3GAL3,missense_variant,p.Val196Asp,ENST00000332628,;ST3GAL3,missense_variant,p.Val227Asp,ENST00000533933,;ST3GAL3,missense_variant,p.Val211Asp,ENST00000531993,NM_001270462.1,NM_001270461.1;ST3GAL3,missense_variant,p.Val26Asp,ENST00000490502,;ST3GAL3,intron_variant,,ENST00000335430,NM_001270465.1;ST3GAL3,intron_variant,,ENST00000545417,NM_174965.2;ST3GAL3,intron_variant,,ENST00000330208,NM_001270466.1;ST3GAL3,intron_variant,,ENST00000372365,;ST3GAL3,intron_variant,,ENST00000372366,;ST3GAL3,intron_variant,,ENST00000372367,NM_001270463.1;ST3GAL3,intron_variant,,ENST00000528371,NM_001270464.1;ST3GAL3,intron_variant,,ENST00000361812,;ST3GAL3,intron_variant,,ENST00000372362,NM_174967.2;ST3GAL3,intron_variant,,ENST00000531451,NM_174970.2;ST3GAL3,intron_variant,,ENST00000531816,;ST3GAL3,non_coding_transcript_exon_variant,,ENST00000461375,;ST3GAL3,3_prime_UTR_variant,,ENST00000530154,;ST3GAL3,3_prime_UTR_variant,,ENST00000469715,;ST3GAL3,3_prime_UTR_variant,,ENST00000533997,;ST3GAL3,3_prime_UTR_variant,,ENST00000490541,;ST3GAL3,intron_variant,,ENST00000489897,;ST3GAL3,intron_variant,,ENST00000530581,;ST3GAL3,intron_variant,,ENST00000533212,;	A	ENST00000262915	Transcript	missense_variant	1078/2470	887/1335	296/444	V/D	gTc/gAc		1		1	ST3GAL3	HGNC	HGNC:10866	protein_coding	YES	CCDS493.1	ENSP00000262915	Q11203		UPI000007440A	NM_174963.3	deleterious(0)		10/13		Pfam_domain:PF00777,PIRSF_domain:PIRSF005557,hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF52																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	43899663	43899663	T	A	1	0	0	0	0	1	0	0	0	15594	1667	58	4		4	ST3GAL3	1	43899663	Missense_Mutation	SNP	T	C3N-00547_TP	469308	43899663	205056759	12	15473											
COL11A1	0	.	GRCh38	chr1	102974843	102974843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttacaggagggccttttGgtccagggaatccaactgga	10	9	12	10	0	0	0	0	0	0	0	2	3	2	3	3	5	2	0	3	5	3	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2795C>A	p.Pro932Gln	p.P932Q	ENST00000370096	36/67	225	133	92	324	324	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Pro944Gln,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Pro932Gln,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Pro893Gln,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Pro816Gln,ENST00000512756,NM_080630.3;COL11A1,3_prime_UTR_variant,,ENST00000635193,;	T	ENST00000370096	Transcript	missense_variant	3108/7286	2795/5421	932/1806	P/Q	cCa/cAa		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0)		36/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1287107942	.												T	3	4	50	102974843	102974843	G	T	1	0	0	0	0	1	0	0	0	3455	1348	47	2		2	COL11A1	1	102974843	Missense_Mutation	SNP	G	C3N-00547_TP	59075180	102974843	145981579	13	15474											
RBM15	0	.	GRCh38	chr1	110339680	110339680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggaaagaccgatagcggcgGtgggtcgcggcggagtctcc	7	5	18	11	7	1	1	0	0	1	1	3	4	1	3	2	6	1	0	2	6	2	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.275G>T	p.Gly92Val	p.G92V	ENST00000369784	1/3	126	90	36	142	142	0	strelka-varscan-mutect	RBM15,missense_variant,p.Gly92Val,ENST00000369784,;RBM15,missense_variant,p.Gly92Val,ENST00000618772,NM_022768.4;RBM15,missense_variant,p.Gly92Val,ENST00000602849,;RBM15,missense_variant,p.Gly92Val,ENST00000487146,NM_001201545.1;RBM15,missense_variant,p.Gly48Val,ENST00000617047,;RP5-1074L1.1,upstream_gene_variant,,ENST00000449169,;	T	ENST00000369784	Transcript	missense_variant	1175/4244	275/2934	92/977	G/V	gGt/gTt		1		1	RBM15	HGNC	HGNC:14959	protein_coding	YES	CCDS822.1	ENSP00000358799	Q96T37		UPI000013E1C5		deleterious_low_confidence(0.01)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF43																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	110339680	110339680	G	T	1	0	0	0	0	1	0	0	0	13282	1261	44	2		2	RBM15	1	110339680	Missense_Mutation	SNP	G	C3N-00547_TP	7364837	110339680	138616742	14	15475											
CD53	0	.	GRCh38	chr1	110892489	110892489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcatggtagttgccttcctgGgctgcatgggctctatcaag	6	13	12	10	0	3	0	2	0	1	0	4	0	4	0	2	3	2	5	2	3	3	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.208G>T	p.Gly70Cys	p.G70C	ENST00000271324	3/8	138	82	56	239	238	1	strelka-varscan-mutect	CD53,missense_variant,p.Gly70Cys,ENST00000271324,NM_001040033.1,NM_000560.3;CD53,non_coding_transcript_exon_variant,,ENST00000476408,;CD53,non_coding_transcript_exon_variant,,ENST00000471220,;CD53,upstream_gene_variant,,ENST00000497404,;	T	ENST00000271324	Transcript	missense_variant	320/1505	208/660	70/219	G/C	Ggc/Tgc		1		1	CD53	HGNC	HGNC:1686	protein_coding	YES	CCDS829.1	ENSP00000271324	P19397		UPI000000D991	NM_001040033.1,NM_000560.3	deleterious(0)		3/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR19282:SF39,hmmpanther:PTHR19282,PROSITE_patterns:PS00421,PIRSF_domain:PIRSF002419,Pfam_domain:PF00335,Prints_domain:PR00259																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	110892489	110892489	G	T	1	0	0	0	0	1	0	0	0	2727	1232	43	2		2	CD53	1	110892489	Missense_Mutation	SNP	G	C3N-00547_TP	552809	110892489	138063933	15	15476											
SLC16A1	0	.	GRCh38	chr1	112917812	112917812	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccttggttggcttgggcccGattggtcgcatgagggctcc	3	11	16	11	2	0	1	0	1	0	0	2	2	1	1	3	5	0	4	3	5	0	4	rs755634416		C3N-00547_TP	C3N-00547_NB	G	G																c.594C>T	p.=	p.I198I	ENST00000538576	4/5	109	100	9	200	200	0	strelka-varscan-mutect	SLC16A1,synonymous_variant,p.=,ENST00000538576,NM_001166496.1;SLC16A1,synonymous_variant,p.=,ENST00000369626,NM_003051.3;SLC16A1,synonymous_variant,p.=,ENST00000458229,;SLC16A1,synonymous_variant,p.=,ENST00000443580,;SLC16A1,synonymous_variant,p.=,ENST00000429288,;SLC16A1,downstream_gene_variant,,ENST00000481750,;	A	ENST00000538576	Transcript	synonymous_variant	1426/4374	594/1503	198/500	I	atC/atT	rs755634416,COSM1560091,COSM4946001	1		-1	SLC16A1	HGNC	HGNC:10922	protein_coding	YES	CCDS858.1	ENSP00000441065	P53985	A0A024R0H1	UPI00000012F5	NM_001166496.1			4/5		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF24,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00892,Transmembrane_helices:TMhelix											0,1,1						LOW	1	SNV	2		0,1,1	1										PASS		rs755634416	.												A	2	1	50	112917812	112917812	G	A	1	0	0	0	0	0	0	0	1	14668	1048	37	1		1	SLC16A1	1	112917812	Silent	SNP	G	C3N-00547_TP	2025323	112917812	136038610	16	15477											
AP4B1	0	.	GRCh38	chr1	113895282	113895282	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccctactcattgcgatgGtctggatgttcactacttga	8	13	9	11	1	3	1	2	1	1	0	3	3	3	2	1	2	4	1	1	2	2	5	rs779808705		C3N-00547_TP	C3N-00547_NB	G	G																c.2003C>G	p.Thr668Ser	p.T668S	ENST00000369569	10/10	174	104	70	230	230	0	strelka-varscan-mutect	AP4B1,missense_variant,p.Thr668Ser,ENST00000369569,NM_001253852.1;AP4B1,missense_variant,p.Thr668Ser,ENST00000256658,NM_001253853.1,NM_006594.3;AP4B1,missense_variant,p.Thr500Ser,ENST00000369567,NM_001308312.1;AP4B1,downstream_gene_variant,,ENST00000369564,;AP4B1,downstream_gene_variant,,ENST00000369571,;AP4B1,downstream_gene_variant,,ENST00000432415,;AP4B1-AS1,intron_variant,,ENST00000419536,;AP4B1,non_coding_transcript_exon_variant,,ENST00000462591,;AP4B1,non_coding_transcript_exon_variant,,ENST00000479285,;AP4B1,downstream_gene_variant,,ENST00000489499,;AP4B1,downstream_gene_variant,,ENST00000484201,;AP4B1,downstream_gene_variant,,ENST00000489092,;AP4B1,downstream_gene_variant,,ENST00000479801,;AP4B1,downstream_gene_variant,,ENST00000460653,;	C	ENST00000369569	Transcript	missense_variant	2284/2818	2003/2220	668/739	T/S	aCc/aGc	rs779808705	1		-1	AP4B1	HGNC	HGNC:572	protein_coding	YES	CCDS865.1	ENSP00000358582	Q9Y6B7	A0A024R0D2	UPI0000072F63	NM_001253852.1	deleterious(0)		10/10		Gene3D:3.30.310.10,Pfam_domain:PF09066,PIRSF_domain:PIRSF002291,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF4,SMART_domains:SM01020																	MODERATE	1	SNV	1			1										PASS		rs779808705	.												C	3	2	50	113895282	113895282	G	C	1	0	0	0	0	1	0	0	0	867	1261	44	4		4	AP4B1	1	113895282	Missense_Mutation	SNP	G	C3N-00547_TP	977470	113895282	135061140	17	15478											
FLG	0	.	GRCh38	chr1	152306759	152306759	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggacccagcctgtccgtgGgctgacactgactgtgtgtc	5	10	14	12	1	0	2	0	2	0	0	2	3	1	3	3	2	1	1	3	2	0	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.8127C>A	p.=	p.A2709A	ENST00000368799	3/3	230	209	21	195	195	0	varscan-mutect	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368799	Transcript	synonymous_variant	8163/12747	8127/12186	2709/4061	A	gcC/gcA		1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	152306759	152306759	G	T	1	0	0	0	0	0	0	0	1	5784	1219	43	2		2	FLG	1	152306759	Silent	SNP	G	C3N-00547_TP	38411477	152306759	96649663	18	15479											
FLG	0	.	GRCh38	chr1	152313290	152313290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctatttaccgattgctcGtggtgggatccctgccttcc	5	13	10	13	2	0	0	0	0	0	0	3	3	2	1	5	2	3	1	5	2	2	5	rs765626862		C3N-00547_TP	C3N-00547_NB	G	G																c.1596C>A	p.His532Gln	p.H532Q	ENST00000368799	3/3	787	458	329	563	563	0	strelka-varscan-mutect	FLG,missense_variant,p.His532Gln,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	T	ENST00000368799	Transcript	missense_variant	1632/12747	1596/12186	532/4061	H/Q	caC/caA	rs765626862,COSM2206778	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	tolerated(0.13)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs765626862	.												T	3	4	50	152313290	152313290	G	T	1	0	0	0	0	1	0	0	0	5784	1136	40	1		1	FLG	1	152313290	Missense_Mutation	SNP	G	C3N-00547_TP	6531	152313290	96643132	19	15480											
LOR	0	.	GRCh38	chr1	153261137	153261137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggtggctactctggcggcgGctgcggcgggggctcctccg	1	7	19	14	6	1	0	0	0	1	0	3	0	3	0	2	8	2	3	2	8	1	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.188G>T	p.Gly63Val	p.G63V	ENST00000368742	2/2	32	24	8	70	70	0	strelka-varscan-mutect	LOR,missense_variant,p.Gly63Val,ENST00000368742,NM_000427.2;	T	ENST00000368742	Transcript	missense_variant	245/1230	188/939	63/312	G/V	gGc/gTc		1		1	LOR	HGNC	HGNC:6663	protein_coding	YES	CCDS30870.1	ENSP00000357731	P23490		UPI0000470BBD	NM_000427.2			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR39228,Pfam_domain:PF15847,Prints_domain:PR01228																	MODERATE	1	SNV	1			1										PASS		rs895518539	.												T	3	4	50	153261137	153261137	G	T	1	0	0	0	0	1	0	0	0	8799	1203	42	2		2	LOR	1	153261137	Missense_Mutation	SNP	G	C3N-00547_TP	947847	153261137	95695285	20	15481											
HAPLN2	0	.	GRCh38	chr1	156625304	156625304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccgcgctgcggggggctcCcggatcccggagtgcgcagt	3	5	19	14	6	0	0	0	0	0	0	2	2	2	2	3	6	2	3	3	6	0	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.943C>T	p.Pro315Ser	p.P315S	ENST00000255039	7/7	176	100	76	190	190	0	strelka-varscan-mutect	HAPLN2,missense_variant,p.Pro315Ser,ENST00000255039,NM_021817.2;HAPLN2,downstream_gene_variant,,ENST00000456112,;HAPLN2,non_coding_transcript_exon_variant,,ENST00000494218,;HAPLN2,downstream_gene_variant,,ENST00000487988,;HAPLN2,downstream_gene_variant,,ENST00000482204,;	T	ENST00000255039	Transcript	missense_variant	1350/1771	943/1023	315/340	P/S	Ccg/Tcg		1		1	HAPLN2	HGNC	HGNC:17410	protein_coding	YES	CCDS1148.1	ENSP00000255039	Q9GZV7		UPI00000012E0	NM_021817.2	tolerated(0.32)		7/7		Gene3D:3.10.100.10,Pfam_domain:PF00193,PROSITE_profiles:PS50963,hmmpanther:PTHR22804,SMART_domains:SM00445,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	156625304	156625304	C	T	1	0	0	0	0	1	0	0	0	6841	623	22	3		3	HAPLN2	1	156625304	Missense_Mutation	SNP	C	C3N-00547_TP	3364167	156625304	92331118	21	15482											
NTRK1	0	.	GRCh38	chr1	156871684	156871684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaccagtgacctcaacaGgaagaacgtgacgtgctggg	11	7	13	10	2	2	3	2	2	0	1	2	4	2	4	2	2	3	1	2	2	3	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.779G>T	p.Arg260Met	p.R260M	ENST00000524377	7/17	477	388	89	325	324	1	strelka-varscan-mutect	NTRK1,missense_variant,p.Arg260Met,ENST00000368196,NM_001012331.1;NTRK1,missense_variant,p.Arg230Met,ENST00000392302,NM_001007792.1;NTRK1,missense_variant,p.Arg260Met,ENST00000358660,;NTRK1,missense_variant,p.Arg260Met,ENST00000524377,NM_002529.3;NTRK1,intron_variant,,ENST00000489021,;NTRK1,non_coding_transcript_exon_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,upstream_gene_variant,,ENST00000534682,;	T	ENST00000524377	Transcript	missense_variant	820/2432	779/2391	260/796	R/M	aGg/aTg		1		1	NTRK1	HGNC	HGNC:8031	protein_coding	YES	CCDS1161.1	ENSP00000431418	P04629		UPI000013D5D3	NM_002529.3	tolerated(0.14)		7/17		PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF370,Gene3D:2.60.40.10,Superfamily_domains:SSF48726,Prints_domain:PR01939																	MODERATE	1	SNV	1			1										PASS		rs1269456924	.												T	3	4	50	156871684	156871684	G	T	1	0	0	0	0	1	0	0	0	10772	1000	35	2		2	NTRK1	1	156871684	Missense_Mutation	SNP	G	C3N-00547_TP	246380	156871684	92084738	22	15483											
OR10J3	0	.	GRCh38	chr1	159314503	159314503	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggggtgtgaagatgatggtCcaggcgaataatggtcatga	11	9	17	4	1	1	4	1	3	0	1	2	5	2	4	1	5	0	0	1	5	3	1	rs754764049		C3N-00547_TP	C3N-00547_NB	C	C																c.157G>T	p.Asp53Tyr	p.D53Y	ENST00000332217	1/1	378	223	155	301	300	1	strelka-varscan-mutect	OR10J3,missense_variant,p.Asp53Tyr,ENST00000332217,NM_001004467.1;	A	ENST00000332217	Transcript	missense_variant	157/990	157/990	53/329	D/Y	Gac/Tac	rs754764049	1		-1	OR10J3	HGNC	HGNC:14992	protein_coding	YES	CCDS30909.1	ENSP00000331789	Q5JRS4		UPI0000441EEF	NM_001004467.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF28,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs754764049	.												A	3	1	50	159314503	159314503	C	A	1	0	0	0	0	1	0	0	0	10988	855	30	2		2	OR10J3	1	159314503	Missense_Mutation	SNP	C	C3N-00547_TP	2442819	159314503	89641919	23	15484											
FCGR2A	0	.	GRCh38	chr1	161506342	161506342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgcccctcagcagctcccCcaaaggctgtgctgaaactt	8	9	8	16	0	2	1	1	1	1	0	3	1	3	1	4	1	5	4	4	1	2	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.115C>A	p.Pro39Thr	p.P39T	ENST00000271450	3/7	280	219	61	188	187	1	strelka-varscan-mutect	FCGR2A,missense_variant,p.Pro39Thr,ENST00000271450,NM_201563.5,NM_001136219.1;FCGR2A,missense_variant,p.Pro38Thr,ENST00000367972,NM_021642.3;FCGR2A,upstream_gene_variant,,ENST00000471026,;FCGR2A,missense_variant,p.Pro4Thr,ENST00000467525,;FCGR2A,missense_variant,p.Pro38Thr,ENST00000483665,;FCGR2A,missense_variant,p.Pro39Thr,ENST00000536731,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000467654,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000473080,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000497474,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000482233,;	A	ENST00000271450	Transcript	missense_variant	153/2412	115/954	39/317	P/T	Cca/Aca		1		1	FCGR2A	HGNC	HGNC:3616	protein_coding	YES	CCDS44264.1	ENSP00000271450	P12318		UPI000013D8DE	NM_201563.5,NM_001136219.1	deleterious(0.02)		3/7		PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF51,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	161506342	161506342	C	A	1	0	0	0	0	1	0	0	0	5644	637	22	2		2	FCGR2A	1	161506342	Missense_Mutation	SNP	C	C3N-00547_TP	2191839	161506342	87450080	24	15485											
LRRC52	0	.	GRCh38	chr1	165563539	165563539	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgtgtggagcccacagaGctgacagggtggcccatcac	10	6	13	12	0	1	2	1	1	0	1	1	3	1	3	2	3	2	1	2	3	0	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.657G>A	p.=	p.E219E	ENST00000294818	2/2	144	134	10	157	157	0	strelka-varscan-mutect	LRRC52,synonymous_variant,p.=,ENST00000294818,NM_001005214.3;RP11-280O1.2,intron_variant,,ENST00000438275,;RP11-280O1.2,intron_variant,,ENST00000421273,;RP11-280O1.2,intron_variant,,ENST00000416424,;	A	ENST00000294818	Transcript	synonymous_variant	947/1369	657/942	219/313	E	gaG/gaA		1		1	LRRC52	HGNC	HGNC:32156	protein_coding	YES	CCDS30930.1	ENSP00000294818	Q8N7C0		UPI000013E1BE	NM_001005214.3			2/2		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF37,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	165563539	165563539	G	A	1	0	0	0	0	0	0	0	1	8904	962	34	3		3	LRRC52	1	165563539	Silent	SNP	G	C3N-00547_TP	4057197	165563539	83392883	25	15486											
CREG1	0	.	GRCh38	chr1	167553416	167553416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcacggagagctgcagcGggctcaggtagaaatagggc	10	6	16	9	2	2	2	2	0	0	2	2	3	2	2	0	4	4	5	0	4	3	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.326C>T	p.Pro109Leu	p.P109L	ENST00000370509	1/4	73	63	10	86	86	0	strelka-varscan-mutect	CREG1,missense_variant,p.Pro109Leu,ENST00000370509,NM_003851.2;	A	ENST00000370509	Transcript	missense_variant	352/1974	326/663	109/220	P/L	cCg/cTg		1		-1	CREG1	HGNC	HGNC:2351	protein_coding	YES	CCDS1262.1	ENSP00000359540	O75629		UPI0000047822	NM_003851.2	deleterious(0.03)		1/4		hmmpanther:PTHR13343:SF12,hmmpanther:PTHR13343,Gene3D:2.30.110.10,PIRSF_domain:PIRSF036911,Pfam_domain:PF13883,Superfamily_domains:SSF50475																	MODERATE	1	SNV	1			1										PASS		rs899922736	.												A	3	1	50	167553416	167553416	G	A	1	0	0	0	0	1	0	0	0	3665	1116	39	1		1	CREG1	1	167553416	Missense_Mutation	SNP	G	C3N-00547_TP	1989877	167553416	81403006	26	15487											
DPT	0	.	GRCh38	chr1	168696616	168696616	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttccactggcgatccCtgtgggagggagagtcagaa	10	8	14	9	1	1	3	1	1	0	2	3	6	3	4	2	3	1	0	2	3	2	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.540-1G>T		p.X180_splice	ENST00000367817		154	91	63	131	131	0	strelka-varscan-mutect	DPT,splice_acceptor_variant,,ENST00000367817,NM_001937.4;	A	ENST00000367817	Transcript	splice_acceptor_variant	-/1786	540/606	180/201				1		-1	DPT	HGNC	HGNC:3011	protein_coding	YES	CCDS1275.1	ENSP00000356791	Q07507		UPI0000032C11	NM_001937.4				3/3																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	50	168696616	168696616	C	A	1	0	0	0	0	0	0	1	0	4554	695	24	2		2	DPT	1	168696616	Splice_Site	SNP	C	C3N-00547_TP	1143200	168696616	80259806	27	15488											
METTL11B	0	.	GRCh38	chr1	170167535	170167535	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttcccggtgccgagaTggcctgaaagaaaatggcat	10	11	11	9	2	1	3	0	1	1	2	2	4	2	3	3	3	1	1	3	3	3	2	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.630T>C	p.=	p.D210D	ENST00000439373	4/4	190	171	19	165	165	0	strelka-varscan-mutect	METTL11B,synonymous_variant,p.=,ENST00000439373,NM_001136107.1;METTL11B,non_coding_transcript_exon_variant,,ENST00000367764,;	C	ENST00000439373	Transcript	synonymous_variant	737/992	630/852	210/283	D	gaT/gaC		1		1	METTL11B	HGNC	HGNC:31932	protein_coding	YES	CCDS44275.1	ENSP00000408058	Q5VVY1		UPI0000418EF1	NM_001136107.1			4/4		hmmpanther:PTHR12753:SF2,hmmpanther:PTHR12753,Pfam_domain:PF05891,Gene3D:3.40.50.150,Superfamily_domains:SSF53335																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	50	170167535	170167535	T	C	1	0	0	0	0	0	0	0	1	9437	1461	51	5		5	METTL11B	1	170167535	Silent	SNP	T	C3N-00547_TP	1470919	170167535	78788887	28	15489											
TNR	0	.	GRCh38	chr1	175391287	175391287	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagggttggaggcactcaCctgtggagacgctggccgag	9	6	17	9	2	1	2	1	0	0	2	1	5	1	3	2	5	0	3	2	5	1	1			C3N-00547_TP	C3N-00547_NB	C	C																c.1507+1G>T		p.X503_splice	ENST00000367674		113	91	22	85	85	0	strelka-varscan-mutect	TNR,splice_donor_variant,,ENST00000367674,;TNR,splice_donor_variant,,ENST00000263525,NM_003285.2;TNR,downstream_gene_variant,,ENST00000422274,;	A	ENST00000367674	Transcript	splice_donor_variant	-/12949	1507/4077	503/1358			COSM1686374	1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C					7/22												1						HIGH	1	SNV	5		1	1										PASS		.	.												A	5	1	50	175391287	175391287	C	A	1	0	0	0	0	0	0	1	0	16811	521	18	2		2	TNR	1	175391287	Splice_Site	SNP	C	C3N-00547_TP	5223752	175391287	73565135	29	15490											
FAM163A	0	.	GRCh38	chr1	179813969	179813969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggtggccgcgagccactGcactacctgctccccataca	7	7	11	16	2	0	0	0	0	0	0	1	1	1	0	5	3	5	2	5	3	2	2	rs765017217		C3N-00547_TP	C3N-00547_NB	G	G																c.284G>C	p.Cys95Ser	p.C95S	ENST00000341785	5/5	225	122	103	202	202	0	strelka-varscan-mutect	FAM163A,missense_variant,p.Cys95Ser,ENST00000341785,NM_173509.2;RP11-12M5.3,downstream_gene_variant,,ENST00000415218,;RP11-12M5.3,downstream_gene_variant,,ENST00000453051,;	C	ENST00000341785	Transcript	missense_variant	680/2909	284/504	95/167	C/S	tGc/tCc	rs765017217	1		1	FAM163A	HGNC	HGNC:28274	protein_coding	YES	CCDS1333.1	ENSP00000354891	Q96GL9		UPI000006ED82	NM_173509.2	deleterious(0.01)		5/5		Pfam_domain:PF15069,hmmpanther:PTHR31914,hmmpanther:PTHR31914:SF2																	MODERATE	1	SNV	1			1										PASS		rs765017217	.												C	3	2	50	179813969	179813969	G	C	1	0	0	0	0	1	0	0	0	5325	1319	46	4		4	FAM163A	1	179813969	Missense_Mutation	SNP	G	C3N-00547_TP	4422682	179813969	69142453	30	15491											
LAMC2	0	.	GRCh38	chr1	183225607	183225607	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgattttaaattatgcaGgttaaatgagcatccaagca	14	15	7	5	0	0	2	0	2	0	0	1	2	1	2	1	1	3	4	1	1	6	6	rs149195906		C3N-00547_TP	C3N-00547_NB	G	G																c.954-1G>T		p.X318_splice	ENST00000264144		411	248	163	345	345	0	strelka-varscan-mutect	LAMC2,splice_acceptor_variant,,ENST00000264144,NM_005562.2;LAMC2,splice_acceptor_variant,,ENST00000493293,NM_018891.2;	T	ENST00000264144	Transcript	splice_acceptor_variant	-/5147	954/3582	318/1193			rs149195906	1		1	LAMC2	HGNC	HGNC:6493	protein_coding	YES	CCDS1352.1	ENSP00000264144	Q13753		UPI000013D4CA	NM_005562.2				7/22																		HIGH	1	SNV	1			1										PASS		rs149195906	.												T	5	4	50	183225607	183225607	G	T	1	0	0	0	0	0	0	1	0	8519	1014	35	2		2	LAMC2	1	183225607	Splice_Site	SNP	G	C3N-00547_TP	3411638	183225607	65730815	31	15492											
ARPC5	0	.	GRCh38	chr1	183623473	183623473	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcatacaagaggcaccTgcacagaacgttttcacatt	14	9	8	10	1	2	2	2	0	0	2	2	3	2	3	1	2	3	3	1	2	4	4	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.394-2A>T		p.X132_splice	ENST00000367534		306	238	68	215	215	0	strelka-varscan-mutect	ARPC5,splice_acceptor_variant,,ENST00000367534,;ARPC5,3_prime_UTR_variant,,ENST00000359856,NM_005717.3;ARPC5,downstream_gene_variant,,ENST00000294742,NM_001270439.1;ARPC5,downstream_gene_variant,,ENST00000462965,;	A	ENST00000367534	Transcript	splice_acceptor_variant	-/622	394/408	132/135				1		-1	ARPC5	HGNC	HGNC:708	protein_coding			ENSP00000356504		B1ALC0	UPI0000470B43					3/3																		HIGH		SNV	3			1										PASS		.	.												A	5	1	50	183623473	183623473	T	A	1	0	0	0	0	0	0	1	0	1117	1594	55	4		4	ARPC5	1	183623473	Splice_Site	SNP	T	C3N-00547_TP	397866	183623473	65332949	32	15493											
PRG4	0	.	GRCh38	chr1	186306991	186306991	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcctgcacccaccacCaccaagtctgcacccaccac	12	3	6	20	0	1	0	0	0	1	0	1	1	1	1	7	1	3	2	7	1	2	0	rs532352521		C3N-00547_TP	C3N-00547_NB	C	C																c.1272C>A	p.=	p.T424T	ENST00000445192	7/13	729	481	248	510	510	0	strelka-varscan-mutect	PRG4,synonymous_variant,p.=,ENST00000445192,NM_005807.4;PRG4,synonymous_variant,p.=,ENST00000367483,NM_001127708.2;PRG4,synonymous_variant,p.=,ENST00000635041,NM_001303232.1;PRG4,synonymous_variant,p.=,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,synonymous_variant,p.=,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	A	ENST00000445192	Transcript	synonymous_variant	1317/5044	1272/4215	424/1404	T	acC/acA	rs532352521	1		1	PRG4	HGNC	HGNC:9364	protein_coding	YES	CCDS1369.1	ENSP00000399679	Q92954		UPI0004620CBB	NM_005807.4			7/13		Low_complexity_(Seg):seg,hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1																	LOW		SNV	5			1										PASS		rs532352521	.												A	2	1	50	186306991	186306991	C	A	1	0	0	0	0	0	0	0	1	12615	581	21	2		2	PRG4	1	186306991	Silent	SNP	C	C3N-00547_TP	2683518	186306991	62649431	33	15494											
B3GALT2	0	.	GRCh38	chr1	193180896	193180901	+	In_Frame_Del	DEL	TATCTA	TATCTA	-																															aatggtcaaattatagtacgTatctaagtattcctgttgaa																								novel		C3N-00547_TP	C3N-00547_NB	TATCTA	TATCTA																c.662_667delTAGATA	p.Leu221_Thr223delinsSer	p.L221_T223delinsS	ENST00000367434	2/2	172	139	33	193	193	0	sindel-varindel-pindel	B3GALT2,inframe_deletion,p.Leu221_Thr223delinsSer,ENST00000367434,NM_003783.3;CDC73,intron_variant,,ENST00000367435,NM_024529.4;CDC73,intron_variant,,ENST00000635846,;	-	ENST00000367434	Transcript	inframe_deletion	1418-1423/3274	662-667/1269	221-223/422	LDT/S	tTAGATAcg/tcg		1		-1	B3GALT2	HGNC	HGNC:917	protein_coding	YES	CCDS1383.1	ENSP00000356404	O43825		UPI0000073BFF	NM_003783.3			2/2		hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF19,Pfam_domain:PF01762																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	50	193180896	193180896	TATCTA	-	1	0	1	0	1	0	0	0	0	1405	1638	57	0		0	B3GALT2	1	193180896	In_Frame_Del	DEL	TATCTA	C3N-00547_TP	6873905	193180896	55775526	34	15495											
KCNT2	0	.	GRCh38	chr1	196236005	196236005	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaacatcattcagctctaTtctggtatctggagatgggt	10	13	9	9	0	5	1	2	0	3	1	5	2	5	1	0	3	2	2	0	3	3	4	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.3277A>G	p.Ile1093Val	p.I1093V	ENST00000294725	27/28	220	191	29	206	206	0	strelka-varscan-mutect	KCNT2,missense_variant,p.Ile1069Val,ENST00000367433,NM_001287819.1;KCNT2,missense_variant,p.Ile1093Val,ENST00000294725,NM_198503.3;KCNT2,missense_variant,p.Ile1026Val,ENST00000609185,NM_001287820.1;KCNT2,3_prime_UTR_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;	C	ENST00000294725	Transcript	missense_variant	4193/4409	3277/3408	1093/1135	I/V	Ata/Gta		1		-1	KCNT2	HGNC	HGNC:18866	protein_coding	YES	CCDS1384.1	ENSP00000294725	Q6UVM3	A9LNM6	UPI00001E0966	NM_198503.3	deleterious(0.03)		27/28		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	196236005	196236005	T	C	1	0	0	0	0	1	0	0	0	8008	1493	52	5		5	KCNT2	1	196236005	Missense_Mutation	SNP	T	C3N-00547_TP	3055109	196236005	52720417	35	15496											
CFHR4	0	.	GRCh38	chr1	196906874	196906874	+	Missense_Mutation	SNP	G	G	C																															gtttcagaattttgtgatatGcctgtttttgagaattccag																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.450G>C	p.Met150Ile	p.M150I	ENST00000367416	4/10	124	67	57	117	117	0	strelka-varscan-mutect	CFHR4,missense_variant,p.Met150Ile,ENST00000367416,NM_001201551.1,NM_001201550.2;CFHR4,intron_variant,,ENST00000608469,;CFHR4,intron_variant,,ENST00000251424,NM_006684.4;CFHR4,intron_variant,,ENST00000367418,;RP4-608O15.3,intron_variant,,ENST00000367421,;	C	ENST00000367416	Transcript	missense_variant	587/2178	450/1734	150/577	M/I	atG/atC		1		1	CFHR4	HGNC	HGNC:16979	protein_coding	YES	CCDS55671.1	ENSP00000356386	Q92496		UPI0001F6C576	NM_001201551.1,NM_001201550.2	tolerated(0.45)		4/10		Gene3D:2.10.70.10,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF366,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	50	196906874	196906874	G	C	1	0	0	0	0	1	0	0	0	3045	1319	46	4		4	CFHR4	1	196906874	Missense_Mutation	SNP	G	C3N-00547_TP	670869	196906874	52049548	36	15497	331	2									
CFHR4	0	.	GRCh38	chr1	196906878	196906878	+	Missense_Mutation	SNP	G	G	T																															cagaattttgtgatatgcctGtttttgagaattccagagcc																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.454G>T	p.Val152Phe	p.V152F	ENST00000367416	4/10	130	70	60	130	130	0	strelka-varscan-mutect	CFHR4,missense_variant,p.Val152Phe,ENST00000367416,NM_001201551.1,NM_001201550.2;CFHR4,intron_variant,,ENST00000608469,;CFHR4,intron_variant,,ENST00000251424,NM_006684.4;CFHR4,intron_variant,,ENST00000367418,;RP4-608O15.3,intron_variant,,ENST00000367421,;	T	ENST00000367416	Transcript	missense_variant	591/2178	454/1734	152/577	V/F	Gtt/Ttt		1		1	CFHR4	HGNC	HGNC:16979	protein_coding	YES	CCDS55671.1	ENSP00000356386	Q92496		UPI0001F6C576	NM_001201551.1,NM_001201550.2	tolerated(0.14)		4/10		Gene3D:2.10.70.10,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF366,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	50	196906878	196906878	G	T	1	0	0	0	0	1	0	0	0	3045	1377	48	2		2	CFHR4	1	196906878	Missense_Mutation	SNP	G	C3N-00547_TP	4	196906878	52049544	37	15498	331	2									
LHX9	0	.	GRCh38	chr1	197912535	197912535	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccttttcctctaagaatgCtgaacggtaccactctagag	10	12	7	12	1	2	3	0	1	2	2	4	3	4	3	3	1	3	2	3	1	5	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.4C>T	p.=	p.L2L	ENST00000367390	1/6	351	304	47	285	285	0	strelka-varscan-mutect	LHX9,synonymous_variant,p.=,ENST00000367390,NM_001014434.1;LHX9,synonymous_variant,p.=,ENST00000367391,;LHX9,5_prime_UTR_variant,,ENST00000606127,;LHX9,5_prime_UTR_variant,,ENST00000475727,;LHX9,upstream_gene_variant,,ENST00000367387,NM_020204.2;LHX9,upstream_gene_variant,,ENST00000561173,;LHX9,upstream_gene_variant,,ENST00000367388,;LHX9,non_coding_transcript_exon_variant,,ENST00000615520,;	T	ENST00000367390	Transcript	synonymous_variant	31/7413	4/1167	2/388	L	Ctg/Ttg		1		1	LHX9	HGNC	HGNC:14222	protein_coding		CCDS30962.1	ENSP00000356360	Q9NQ69		UPI000012E664	NM_001014434.1			1/6																			LOW		SNV	1			1										PASS		.	.												T	2	4	50	197912535	197912535	C	T	1	0	0	0	0	0	0	0	1	8686	796	28	3		3	LHX9	1	197912535	Silent	SNP	C	C3N-00547_TP	1005657	197912535	51043887	38	15499											
PTPRC	0	.	GRCh38	chr1	198728347	198728347	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcatttctagataattcTaaggcactgatagcatttct	11	18	5	7	0	4	2	1	1	3	1	4	2	4	2	0	1	1	2	0	1	4	9	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.1728T>G	p.=	p.S576S	ENST00000442510	16/33	366	314	52	239	239	0	strelka-mutect	PTPRC,synonymous_variant,p.=,ENST00000442510,NM_002838.4;PTPRC,synonymous_variant,p.=,ENST00000348564,NM_080921.3;PTPRC,synonymous_variant,p.=,ENST00000367367,;PTPRC,synonymous_variant,p.=,ENST00000530727,;PTPRC,synonymous_variant,p.=,ENST00000529828,;	G	ENST00000442510	Transcript	synonymous_variant	1869/5164	1728/3921	576/1306	S	tcT/tcG		1		1	PTPRC	HGNC	HGNC:9666	protein_coding	YES	CCDS1397.2	ENSP00000411355		A0A0A0MT22	UPI000046FDB4	NM_002838.4			16/33		PIRSF_domain:PIRSF002004,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF284																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	50	198728347	198728347	T	G	1	0	0	0	0	0	0	0	1	12951	1509	53	5		5	PTPRC	1	198728347	Silent	SNP	T	C3N-00547_TP	815812	198728347	50228075	39	15500											
GPR25	0	.	GRCh38	chr1	200873430	200873430	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcgcgctgctgctggcGggcatgagcgtggaccgcta	4	6	19	12	6	0	1	0	1	0	0	0	2	0	2	1	4	3	5	1	4	1	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.393G>C	p.=	p.A131A	ENST00000304244	1/1	187	147	40	167	167	0	strelka-varscan-mutect	GPR25,synonymous_variant,p.=,ENST00000304244,NM_005298.3;	C	ENST00000304244	Transcript	synonymous_variant	476/1224	393/1086	131/361	A	gcG/gcC		1		1	GPR25	HGNC	HGNC:4480	protein_coding	YES	CCDS1405.1	ENSP00000301917	O00155		UPI000013E957	NM_005298.3			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF9,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		rs1456820974	.												C	2	2	50	200873430	200873430	G	C	1	0	0	0	0	0	0	0	1	6567	1103	39	4		4	GPR25	1	200873430	Silent	SNP	G	C3N-00547_TP	2145083	200873430	48082992	40	15501											
CACNA1S	0	.	GRCh38	chr1	201089277	201089277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtaaaggacgtcagtcCatccctccatggtaatgcac	11	8	8	14	1	1	0	1	0	0	0	4	1	4	1	4	2	1	3	4	2	3	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.881G>T	p.Trp294Leu	p.W294L	ENST00000362061	6/44	694	538	156	451	451	0	strelka-varscan-mutect	CACNA1S,missense_variant,p.Trp294Leu,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Trp294Leu,ENST00000367338,;	A	ENST00000362061	Transcript	missense_variant	1108/6166	881/5622	294/1873	W/L	tGg/tTg		1		-1	CACNA1S	HGNC	HGNC:1397	protein_coding	YES	CCDS1407.1	ENSP00000355192	Q13698		UPI000020471D	NM_000069.2	deleterious(0)		6/44		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	201089277	201089277	C	A	1	0	0	0	0	1	0	0	0	2235	595	21	2		2	CACNA1S	1	201089277	Missense_Mutation	SNP	C	C3N-00547_TP	215847	201089277	47867145	41	15502											
PPP1R12B	0	.	GRCh38	chr1	202427173	202427173	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttgtgacatggatattCgaaataaactggttagtgag	13	13	10	5	1	0	2	0	2	0	0	1	4	0	3	0	2	1	1	0	2	5	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.835C>A	p.=	p.R279R	ENST00000608999	5/24	216	165	51	254	254	0	strelka-varscan-mutect	PPP1R12B,synonymous_variant,p.=,ENST00000391959,;PPP1R12B,synonymous_variant,p.=,ENST00000608999,NM_002481.3;PPP1R12B,synonymous_variant,p.=,ENST00000480184,NM_001167857.1;PPP1R12B,synonymous_variant,p.=,ENST00000356764,NM_001167858.1;PPP1R12B,synonymous_variant,p.=,ENST00000466968,;PPP1R12B,3_prime_UTR_variant,,ENST00000476364,;PPP1R12B,upstream_gene_variant,,ENST00000488330,;	A	ENST00000608999	Transcript	synonymous_variant	988/15248	835/2949	279/982	R	Cga/Aga		1		1	PPP1R12B	HGNC	HGNC:7619	protein_coding	YES	CCDS1426.1	ENSP00000476755	O60237		UPI0000458A57	NM_002481.3			5/24		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24179:SF18,hmmpanther:PTHR24179,Gene3D:1.25.40.20,Pfam_domain:PF12796,PIRSF_domain:PIRSF038141,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		rs1025729982	.												A	2	1	50	202427173	202427173	C	A	1	0	0	0	0	0	0	0	1	12465	876	31	1		1	PPP1R12B	1	202427173	Silent	SNP	C	C3N-00547_TP	1337896	202427173	46529249	42	15503											
CHI3L1	0	.	GRCh38	chr1	203180639	203180639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccccagcctcaacatgtacCccacagcatagtcctgggtg	9	7	8	17	0	1	0	1	0	0	0	2	0	2	0	6	1	4	2	6	1	3	2			C3N-00547_TP	C3N-00547_NB	C	C																c.725G>T	p.Gly242Val	p.G242V	ENST00000255409	8/10	111	63	48	215	214	1	strelka-varscan-mutect	CHI3L1,missense_variant,p.Gly242Val,ENST00000255409,NM_001276.2;CHI3L1,intron_variant,,ENST00000404436,;MYBPH,upstream_gene_variant,,ENST00000255416,NM_004997.2;MYBPH,upstream_gene_variant,,ENST00000621380,;CHI3L1,non_coding_transcript_exon_variant,,ENST00000472064,;CHI3L1,intron_variant,,ENST00000473185,;CHI3L1,upstream_gene_variant,,ENST00000478742,;	A	ENST00000255409	Transcript	missense_variant	851/1792	725/1152	242/383	G/V	gGg/gTg	COSM3481835	1		-1	CHI3L1	HGNC	HGNC:1932	protein_coding	YES	CCDS1435.1	ENSP00000255409	P36222	A0A024R969	UPI0000072E4F	NM_001276.2	tolerated(0.05)		8/10		Gene3D:3.20.20.80,Pfam_domain:PF00704,hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF202,SMART_domains:SM00636,Superfamily_domains:SSF51445											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	50	203180639	203180639	C	A	1	0	0	0	0	1	0	0	0	3099	623	22	2		2	CHI3L1	1	203180639	Missense_Mutation	SNP	C	C3N-00547_TP	753466	203180639	45775783	43	15504											
PLEKHA6	0	.	GRCh38	chr1	204261407	204261407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttgctcctcggggctCtcggcactgaagaagtaggt	6	10	13	12	2	2	2	0	1	2	1	5	2	3	2	2	4	1	4	2	4	3	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.423G>T	p.Glu141Asp	p.E141D	ENST00000272203	7/23	158	123	35	141	141	0	strelka-varscan-mutect	PLEKHA6,missense_variant,p.Glu141Asp,ENST00000272203,NM_014935.4;PLEKHA6,missense_variant,p.Glu141Asp,ENST00000637508,;PLEKHA6,missense_variant,p.Glu161Asp,ENST00000414478,;PLEKHA6,non_coding_transcript_exon_variant,,ENST00000485632,;	A	ENST00000272203	Transcript	missense_variant	740/7401	423/3147	141/1048	E/D	gaG/gaT		1		-1	PLEKHA6	HGNC	HGNC:17053	protein_coding	YES	CCDS1444.1	ENSP00000272203	Q9Y2H5		UPI000013D935	NM_014935.4	tolerated(1)		7/23		PROSITE_profiles:PS50003,hmmpanther:PTHR12752,hmmpanther:PTHR12752:SF5,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	204261407	204261407	C	A	1	0	0	0	0	1	0	0	0	12153	912	32	2		2	PLEKHA6	1	204261407	Missense_Mutation	SNP	C	C3N-00547_TP	1080768	204261407	44695015	44	15505											
LRRN2	0	.	GRCh38	chr1	204619178	204619178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggccctacccgctggagcGggttcttgttgaggtctagg	4	10	15	12	3	2	1	0	1	2	0	2	2	2	2	3	5	2	3	3	5	2	5	rs774495531		C3N-00547_TP	C3N-00547_NB	G	G																c.815C>A	p.Pro272Gln	p.P272Q	ENST00000367175	1/1	236	132	104	181	181	0	strelka-varscan-mutect	LRRN2,missense_variant,p.Pro272Gln,ENST00000367175,;LRRN2,missense_variant,p.Pro272Gln,ENST00000367177,NM_201630.1;LRRN2,missense_variant,p.Pro272Gln,ENST00000367176,NM_006338.2;RP11-430C7.4,downstream_gene_variant,,ENST00000453895,;LRRN2,downstream_gene_variant,,ENST00000496057,;	T	ENST00000367175	Transcript	missense_variant	3028/5036	815/2142	272/713	P/Q	cCg/cAg	rs774495531	1		-1	LRRN2	HGNC	HGNC:16914	protein_coding	YES	CCDS1448.1	ENSP00000356143	O75325	A0A024R993	UPI000013E8AC		deleterious(0)		1/1		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF162,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE		SNV				1										PASS		rs774495531	.												T	3	4	50	204619178	204619178	G	T	1	0	0	0	0	1	0	0	0	8941	1116	39	1		1	LRRN2	1	204619178	Missense_Mutation	SNP	G	C3N-00547_TP	357771	204619178	44337244	45	15506											
SRGAP2	0	.	GRCh38	chr1	206401560	206401560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaacctggatgccaccaGtgacaagcagcgcctcatgg	13	5	11	12	1	1	2	1	1	0	1	1	3	1	3	4	2	4	1	4	2	3	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.971G>A	p.Ser324Asn	p.S324N	ENST00000573034	7/22	30	23	7	45	45	0	varscan-mutect	SRGAP2,missense_variant,p.Ser324Asn,ENST00000573034,NM_015326.4;SRGAP2,missense_variant,p.Ser323Asn,ENST00000624873,NM_001170637.3;SRGAP2,missense_variant,p.Ser323Asn,ENST00000605610,NM_001300952.1;SRGAP2,missense_variant,p.Ser170Asn,ENST00000419187,;SRGAP2,upstream_gene_variant,,ENST00000605476,;SRGAP2,upstream_gene_variant,,ENST00000604423,;	A	ENST00000573034	Transcript	missense_variant	1033/6301	971/3216	324/1071	S/N	aGt/aAt		1		1	SRGAP2	HGNC	HGNC:19751	protein_coding	YES	CCDS73017.1	ENSP00000459615		A2RUF3	UPI0000DC3AA7	NM_015326.4	tolerated(0.23)		7/22		PROSITE_profiles:PS51741,hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF6,Superfamily_domains:SSF103657																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	206401560	206401560	G	A	1	0	0	0	0	1	0	0	0	15505	1029	36	3		3	SRGAP2	1	206401560	Missense_Mutation	SNP	G	C3N-00547_TP	1782382	206401560	42554862	46	15507											
IL19	0	.	GRCh38	chr1	206841019	206841019	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcaggaacagaggcagTgtcactgcaggcaggaagcc	13	3	14	11	0	1	1	1	0	0	1	1	3	1	3	1	4	4	4	1	4	2	0	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.493T>A	p.Cys165Ser	p.C165S	ENST00000340758	5/6	298	243	55	172	172	0	strelka-varscan-mutect	IL19,missense_variant,p.Cys127Ser,ENST00000620365,;IL19,missense_variant,p.Cys127Ser,ENST00000270218,NM_013371.3;IL19,missense_variant,p.Cys165Ser,ENST00000340758,NM_153758.2;IL19,downstream_gene_variant,,ENST00000476097,;	A	ENST00000340758	Transcript	missense_variant	518/1032	493/648	165/215	C/S	Tgt/Agt		1		1	IL19	HGNC	HGNC:5990	protein_coding	YES	CCDS1468.1	ENSP00000343000	Q9UHD0		UPI000019AB76	NM_153758.2	deleterious(0.02)		5/6		Gene3D:1.20.1250.10,Pfam_domain:PF00726,hmmpanther:PTHR11585,hmmpanther:PTHR11585:SF4,Low_complexity_(Seg):seg,Superfamily_domains:SSF47266																	MODERATE	1	SNV	1			1										PASS		rs1268606019	.												A	3	1	50	206841019	206841019	T	A	1	0	0	0	0	1	0	0	0	7557	1696	59	4		4	IL19	1	206841019	Missense_Mutation	SNP	T	C3N-00547_TP	439459	206841019	42115403	47	15508											
C4BPA	0	.	GRCh38	chr1	207143990	207143990	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggtgcccaagtgtgaGtgggtaagtggcacaattca	11	8	14	8	0	1	2	1	1	0	1	1	2	1	2	2	3	1	2	2	3	3	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1617G>A	p.=	p.E539E	ENST00000367070	11/12	46	30	16	54	54	0	strelka-varscan-mutect	C4BPA,synonymous_variant,p.=,ENST00000367070,NM_000715.3;	A	ENST00000367070	Transcript	synonymous_variant	1811/2243	1617/1794	539/597	E	gaG/gaA		1		1	C4BPA	HGNC	HGNC:1325	protein_coding	YES	CCDS1477.1	ENSP00000356037	P04003		UPI0000126C28	NM_000715.3			11/12		Gene3D:2.10.70.10,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF341,Superfamily_domains:SSF57535																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	207143990	207143990	G	A	1	0	0	0	0	0	0	0	1	2076	1043	36	3		3	C4BPA	1	207143990	Silent	SNP	G	C3N-00547_TP	302971	207143990	41812432	48	15509											
HSD11B1	0	.	GRCh38	chr1	209734351	209734351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tagtccatatgcaagcagctCcaaaggaggaatgtgccctg	12	8	11	10	0	0	0	0	0	0	0	2	2	2	2	3	2	4	3	3	2	5	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.709C>T	p.Pro237Ser	p.P237S	ENST00000367028	7/7	323	265	58	256	256	0	strelka-varscan-mutect	HSD11B1,missense_variant,p.Pro237Ser,ENST00000367028,NM_181755.2,NM_001206741.1;HSD11B1,missense_variant,p.Pro237Ser,ENST00000367027,NM_005525.3;HSD11B1,missense_variant,p.Pro237Ser,ENST00000261465,;HSD11B1,downstream_gene_variant,,ENST00000615289,;	T	ENST00000367028	Transcript	missense_variant	863/1461	709/879	237/292	P/S	Cca/Tca		1		1	HSD11B1	HGNC	HGNC:5208	protein_coding	YES	CCDS1489.1	ENSP00000355995	P28845	X5D2L1	UPI000004C796	NM_181755.2,NM_001206741.1	deleterious(0.04)		7/7		Gene3D:3.40.50.720,Superfamily_domains:SSF51735																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	209734351	209734351	C	T	1	0	0	0	0	1	0	0	0	7270	855	30	3		3	HSD11B1	1	209734351	Missense_Mutation	SNP	C	C3N-00547_TP	2590361	209734351	39222071	49	15510											
USH2A	0	.	GRCh38	chr1	216196664	216196664	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgctggcttctcccaggaGatattgagagagtacgaaga	11	10	12	8	1	2	4	0	1	2	3	3	7	2	4	1	2	2	3	1	2	3	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.4140C>G	p.Ile1380Met	p.I1380M	ENST00000307340	19/72	467	441	26	340	340	0	strelka-varscan-mutect	USH2A,missense_variant,p.Ile1380Met,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Ile1380Met,ENST00000366942,NM_007123.5;RP5-1099E6.3,intron_variant,,ENST00000420867,;MRPS18BP1,downstream_gene_variant,,ENST00000414228,;	C	ENST00000307340	Transcript	missense_variant	4527/18883	4140/15609	1380/5202	I/M	atC/atG		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		19/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	216196664	216196664	G	C	1	0	0	0	0	1	0	0	0	17570	932	33	4		4	USH2A	1	216196664	Missense_Mutation	SNP	G	C3N-00547_TP	6462313	216196664	32759758	50	15511											
RRP15	0	.	GRCh38	chr1	218307594	218307594	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggatggaagtacaaatGagactgcttcaagcaggaag	15	7	14	5	0	1	1	1	1	0	1	1	6	1	5	0	4	3	3	0	4	5	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.667G>T	p.Glu223Ter	p.E223*	ENST00000366932	4/5	272	208	64	194	194	0	strelka-varscan-mutect	RRP15,stop_gained,p.Glu223Ter,ENST00000366932,NM_016052.3;RRP15,downstream_gene_variant,,ENST00000491428,;	T	ENST00000366932	Transcript	stop_gained	697/7771	667/849	223/282	E/*	Gag/Tag		1		1	RRP15	HGNC	HGNC:24255	protein_coding	YES	CCDS1520.2	ENSP00000355899	Q9Y3B9		UPI0000205BC1	NM_016052.3			4/5		hmmpanther:PTHR13245																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	50	218307594	218307594	G	T	1	0	0	0	0	0	1	0	0	13942	1291	45	2		2	RRP15	1	218307594	Nonsense_Mutation	SNP	G	C3N-00547_TP	2110930	218307594	30648828	51	15512											
OBSCN	0	.	GRCh38	chr1	228219372	228219372	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgtgcagggaggtgcAggctgaggtgggggccagcg	5	4	23	9	3	0	1	0	1	0	0	0	2	0	2	2	7	3	3	2	7	0	0	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.2702A>T	p.Gln901Leu	p.Q901L	ENST00000570156	9/116	241	150	91	179	179	0	strelka-varscan-mutect	OBSCN,missense_variant,p.Gln901Leu,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Gln901Leu,ENST00000366707,;OBSCN,intron_variant,,ENST00000422127,NM_001098623.2;OBSCN,intron_variant,,ENST00000636875,;OBSCN,intron_variant,,ENST00000284548,NM_052843.3;OBSCN,downstream_gene_variant,,ENST00000493977,;	T	ENST00000570156	Transcript	missense_variant	2776/26925	2702/26772	901/8923	Q/L	cAg/cTg		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	tolerated(0.2)		9/116		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs1401957305	.												T	3	4	50	228219372	228219372	A	T	1	0	0	0	0	1	0	0	0	10889	188	7	4		4	OBSCN	1	228219372	Missense_Mutation	SNP	A	C3N-00547_TP	9911778	228219372	20737050	52	15513											
ACTA1	0	.	GRCh38	chr1	229432668	229432668	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttctcgcggttggccttGggattgaggggggcctcggt	3	12	17	9	3	2	1	0	1	2	0	4	2	2	2	2	7	0	1	2	7	0	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.342C>T	p.=	p.P114P	ENST00000366684	3/7	450	254	196	376	376	0	strelka-varscan-mutect	ACTA1,synonymous_variant,p.=,ENST00000366684,NM_001100.3;ACTA1,synonymous_variant,p.=,ENST00000366683,;	A	ENST00000366684	Transcript	synonymous_variant	445/1491	342/1134	114/377	P	ccC/ccT		1		-1	ACTA1	HGNC	HGNC:129	protein_coding	YES	CCDS1578.1	ENSP00000355645	P68133		UPI0000000860	NM_001100.3			3/7		Gene3D:3.30.420.40,Pfam_domain:PF00022,PROSITE_patterns:PS01132,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF193,SMART_domains:SM00268,Superfamily_domains:SSF53067																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	229432668	229432668	G	A	1	0	0	0	0	0	0	0	1	234	1335	47	3		3	ACTA1	1	229432668	Silent	SNP	G	C3N-00547_TP	1213296	229432668	19523754	53	15514											
GALNT2	0	.	GRCh38	chr1	230255244	230255244	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgttccgcgtgtggcagtgtGgtggcagcctggagatcatc	5	10	16	10	3	1	1	1	0	0	1	3	2	2	1	2	4	1	3	2	4	0	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1036G>C	p.Gly346Arg	p.G346R	ENST00000366672	11/16	370	208	162	264	264	0	strelka-varscan-mutect	GALNT2,missense_variant,p.Gly346Arg,ENST00000366672,NM_001291866.1,NM_004481.4;RP5-956O18.2,downstream_gene_variant,,ENST00000440729,;GALNT2,upstream_gene_variant,,ENST00000485438,;	C	ENST00000366672	Transcript	missense_variant	1108/4454	1036/1716	346/571	G/R	Ggt/Cgt		1		1	GALNT2	HGNC	HGNC:4124	protein_coding	YES	CCDS1582.1	ENSP00000355632	Q10471		UPI0000074053	NM_001291866.1,NM_004481.4	deleterious(0.02)		11/16		Gene3D:3.90.550.10,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF49,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	230255244	230255244	G	C	1	0	0	0	0	1	0	0	0	6084	1348	47	4		4	GALNT2	1	230255244	Missense_Mutation	SNP	G	C3N-00547_TP	822576	230255244	18701178	54	15515											
MAP10	0	.	GRCh38	chr1	232805336	232805336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccgctggagcgcttccgCaaatctcgcgagatagcagg	9	6	13	13	5	1	1	0	0	1	1	3	4	2	2	2	2	2	4	2	2	2	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.313C>G	p.Gln105Glu	p.Q105E	ENST00000418460	1/1	508	417	91	418	418	0	strelka-varscan-mutect	MAP10,missense_variant,p.Gln105Glu,ENST00000418460,NM_019090.2;	G	ENST00000418460	Transcript	missense_variant	445/3516	313/3144	105/1047	Q/E	Caa/Gaa		1		1	MAP10	HGNC	HGNC:29265	protein_coding	YES	CCDS44334.1	ENSP00000403208	Q9P2G4		UPI0000418F25	NM_019090.2	tolerated_low_confidence(0.48)		1/1																			MODERATE	1	SNV				1										PASS		.	.												G	3	3	50	232805336	232805336	C	G	1	0	0	0	0	1	0	0	0	9149	711	25	4		4	MAP10	1	232805336	Missense_Mutation	SNP	C	C3N-00547_TP	2550092	232805336	16151086	55	15516											
LYST	0	.	GRCh38	chr1	235759286	235759286	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcactccctttgggacAtcactgacagagacctgggc	9	7	10	15	0	1	2	1	1	0	1	2	4	2	3	3	2	1	1	3	2	0	1	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.6567T>G	p.Asp2189Glu	p.D2189E	ENST00000389793	23/53	803	446	357	582	581	1	strelka-varscan-mutect	LYST,missense_variant,p.Asp2189Glu,ENST00000389793,NM_000081.3,NM_001301365.1;LYST,3_prime_UTR_variant,,ENST00000389794,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;	C	ENST00000389793	Transcript	missense_variant	6742/13480	6567/11406	2189/3801	D/E	gaT/gaG		1		-1	LYST	HGNC	HGNC:1968	protein_coding	YES	CCDS31062.1	ENSP00000374443	Q99698		UPI000020509E	NM_000081.3,NM_001301365.1	tolerated_low_confidence(0.68)		23/53		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF86																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	50	235759286	235759286	A	C	1	0	0	0	0	1	0	0	0	9041	214	8	5		5	LYST	1	235759286	Missense_Mutation	SNP	A	C3N-00547_TP	2953950	235759286	13197136	56	15517											
HEATR1	0	.	GRCh38	chr1	236574695	236574695	+	Frame_Shift_Del	DEL	C	C	-																															tgatctgaatggttggcattCccgcgtaaagttcctttgtt																								rs753548904		C3N-00547_TP	C3N-00547_NB	C	C																c.3293delG	p.Gly1098GlufsTer31	p.G1098Efs*31	ENST00000366582	23/45	145	124	21	143	143	0	sindel-varindel-pindel	HEATR1,frameshift_variant,p.Gly1098GlufsTer31,ENST00000366582,NM_018072.5;HEATR1,intron_variant,,ENST00000366581,;HEATR1,non_coding_transcript_exon_variant,,ENST00000490339,;	-	ENST00000366582	Transcript	frameshift_variant	3408/8447	3293/6435	1098/2144	G/X	gGa/ga	rs753548904	1		-1	HEATR1	HGNC	HGNC:25517	protein_coding	YES	CCDS31066.1	ENSP00000355541	Q9H583		UPI000013D4D4	NM_018072.5			23/45		Gene3D:1.25.10.10,hmmpanther:PTHR13457,hmmpanther:PTHR13457:SF1,Superfamily_domains:SSF48371																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	50	236574695	236574695	C	-	1	0	1	0	1	0	0	0	0	6910	855	30	0		0	HEATR1	1	236574695	Frame_Shift_Del	DEL	C	C3N-00547_TP	815409	236574695	12381727	57	15518											
RYR2	0	.	GRCh38	chr1	237639139	237639139	+	Frame_Shift_Del	DEL	C	C	-																															gcagcaatggaagaagccatCaaaatcgccgaggatccttc																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.7053delC	p.Ile2353SerfsTer37	p.I2353Sfs*37	ENST00000366574	46/105	157	129	28	123	123	0	sindel-varindel-pindel	RYR2,frameshift_variant,p.Ile2353SerfsTer37,ENST00000366574,NM_001035.2;RYR2,frameshift_variant,p.Ile2337SerfsTer37,ENST00000360064,;	-	ENST00000366574	Transcript	frameshift_variant	7370/16562	7053/14904	2351/4967	I/X	atC/at		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			46/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	50	237639139	237639139	C	-	1	0	1	0	1	0	0	0	0	14029	816	29	0		0	RYR2	1	237639139	Frame_Shift_Del	DEL	C	C3N-00547_TP	1064444	237639139	11317283	58	15519											
RYR2	0	.	GRCh38	chr1	237674178	237674178	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagagaaaaagcacaggaCatcctcaagttcttgcagat	16	8	9	8	0	2	2	1	0	1	2	3	5	3	3	1	1	2	3	1	1	4	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.8673C>T	p.=	p.D2891D	ENST00000366574	59/105	166	131	35	136	136	0	strelka-varscan-mutect	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,upstream_gene_variant,,ENST00000609119,;	T	ENST00000366574	Transcript	synonymous_variant	8990/16562	8673/14904	2891/4967	D	gaC/gaT		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			59/105		Pfam_domain:PF02026,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	237674178	237674178	C	T	1	0	0	0	0	0	0	0	1	14029	477	17	3		3	RYR2	1	237674178	Silent	SNP	C	C3N-00547_TP	35039	237674178	11282244	59	15520											
RYR2	0	.	GRCh38	chr1	237708946	237708946	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaactcaagaaaaaggcAgctacggtggtgtctgagga	15	6	14	6	1	2	3	1	1	1	2	2	5	2	4	0	4	3	2	0	4	5	1	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.9990A>T	p.=	p.A3330A	ENST00000366574	69/105	354	212	142	275	275	0	strelka-varscan-mutect	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	T	ENST00000366574	Transcript	synonymous_variant	10307/16562	9990/14904	3330/4967	A	gcA/gcT		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			69/105		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	237708946	237708946	A	T	1	0	0	0	0	0	0	0	1	14029	175	7	4		4	RYR2	1	237708946	Silent	SNP	A	C3N-00547_TP	34768	237708946	11247476	60	15521											
RYR2	0	.	GRCh38	chr1	237709505	237709505	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggctaaaggagcctaacCcagaagcagaggagctcttc	13	6	12	10	0	1	2	0	0	1	2	2	4	1	4	2	3	4	3	2	3	4	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.10168C>G	p.Pro3390Ala	p.P3390A	ENST00000366574	70/105	258	213	45	194	194	0	strelka-varscan-mutect	RYR2,missense_variant,p.Pro3390Ala,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Pro3374Ala,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	G	ENST00000366574	Transcript	missense_variant	10485/16562	10168/14904	3390/4967	P/A	Cca/Gca		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.46)		70/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	237709505	237709505	C	G	1	0	0	0	0	1	0	0	0	14029	623	22	4		4	RYR2	1	237709505	Missense_Mutation	SNP	C	C3N-00547_TP	559	237709505	11246917	61	15522											
MAP1LC3C	0	.	GRCh38	chr1	241996209	241996209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaggctgctcccatccctgGgggctgctgactccaggcag	6	7	13	15	0	0	1	0	1	0	0	3	1	3	1	3	4	2	5	3	4	1	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.398C>A	p.Pro133His	p.P133H	ENST00000357246	4/4	222	173	49	128	127	1	strelka-varscan-mutect	MAP1LC3C,missense_variant,p.Pro133His,ENST00000357246,NM_001004343.2;CFL1P4,downstream_gene_variant,,ENST00000451536,;	T	ENST00000357246	Transcript	missense_variant	463/1182	398/444	133/147	P/H	cCc/cAc		1		-1	MAP1LC3C	HGNC	HGNC:13353	protein_coding	YES	CCDS31074.1	ENSP00000349785	Q9BXW4		UPI0000070E14	NM_001004343.2	tolerated(0.08)		4/4		hmmpanther:PTHR10969,hmmpanther:PTHR10969:SF41																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	241996209	241996209	G	T	1	0	0	0	0	1	0	0	0	9155	1232	43	2		2	MAP1LC3C	1	241996209	Missense_Mutation	SNP	G	C3N-00547_TP	4286704	241996209	6960213	62	15523											
NLRP3	0	.	GRCh38	chr1	247424983	247424983	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccaaaaggaagtggacTgcgagaagttctacagcttc	12	10	11	8	1	1	1	0	0	1	1	3	4	2	3	1	2	3	3	1	2	5	4	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.1540T>A	p.Cys514Ser	p.C514S	ENST00000336119	3/9	445	334	111	285	285	0	strelka-varscan-mutect	NLRP3,missense_variant,p.Cys514Ser,ENST00000366497,NM_001127461.2;NLRP3,missense_variant,p.Cys514Ser,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,missense_variant,p.Cys514Ser,ENST00000366496,;NLRP3,missense_variant,p.Cys514Ser,ENST00000391828,NM_001079821.2;NLRP3,missense_variant,p.Cys514Ser,ENST00000348069,NM_183395.2;NLRP3,missense_variant,p.Cys514Ser,ENST00000391827,NM_001127462.2;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	A	ENST00000336119	Transcript	missense_variant	2286/4170	1540/3111	514/1036	C/S	Tgc/Agc		1		1	NLRP3	HGNC	HGNC:16400	protein_coding	YES	CCDS1632.1	ENSP00000337383	Q96P20		UPI00001CE3AD	NM_004895.4,NM_001243133.1	tolerated(0.09)		3/9		PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	247424983	247424983	T	A	1	0	0	0	0	1	0	0	0	10516	1580	55	4		4	NLRP3	1	247424983	Missense_Mutation	SNP	T	C3N-00547_TP	5428774	247424983	1531439	63	15524											
OR2T35	0	.	GRCh38	chr1	248638759	248638759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctctcgggatctacagaagGggaaactcatagtgacagga	13	8	12	8	1	3	2	1	1	2	1	5	5	3	5	0	4	2	0	0	4	4	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.500C>A	p.Pro167His	p.P167H	ENST00000317450	1/1	282	242	40	264	264	0	varscan-mutect	OR2T35,missense_variant,p.Pro167His,ENST00000317450,NM_001001827.1;	T	ENST00000317450	Transcript	missense_variant	500/972	500/972	167/323	P/H	cCc/cAc		1		-1	OR2T35	HGNC	HGNC:31257	protein_coding	YES	CCDS31123.1	ENSP00000324369	Q8NGX2		UPI0000061ED3	NM_001001827.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF18,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	50	248638759	248638759	G	T	1	0	0	0	0	1	0	0	0	11103	1232	43	2		2	OR2T35	1	248638759	Missense_Mutation	SNP	G	C3N-00547_TP	1213776	248638759	317663	64	15525											
PXDN	0	.	GRCh38	chr2	1649376	1649376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacggtctccgtcccgatcaGggtggtggacaccaggcgcg	6	6	16	13	5	2	0	1	0	1	0	4	3	3	1	3	5	0	0	3	5	0	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2404C>A	p.Leu802Met	p.L802M	ENST00000252804	17/23	553	291	262	722	722	0	strelka-varscan-mutect	PXDN,missense_variant,p.Leu802Met,ENST00000252804,NM_012293.2;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,non_coding_transcript_exon_variant,,ENST00000465809,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,non_coding_transcript_exon_variant,,ENST00000493779,;PXDN,intron_variant,,ENST00000478155,;	T	ENST00000252804	Transcript	missense_variant	2455/6808	2404/4440	802/1479	L/M	Ctg/Atg		1		-1	PXDN	HGNC	HGNC:14966	protein_coding	YES	CCDS46221.1	ENSP00000252804	Q92626		UPI00001C1DC2	NM_012293.2	tolerated(0.35)		17/23		Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF75,Superfamily_domains:SSF48113																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	1649376	1649376	G	T	1	0	0	0	0	1	0	0	0	13001	991	35	2		2	PXDN	2	1649376	Missense_Mutation	SNP	G	C3N-00547_TP		1649376	240544153	65	15526											
TRAPPC12	0	.	GRCh38	chr2	3424630	3424630	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atcagccagatctttattacGagtactacccgcacgtgtac	11	11	7	12	3	2	1	1	0	1	1	2	2	2	1	2	0	5	3	2	0	5	6	rs769005424		C3N-00547_TP	C3N-00547_NB	G	G																c.1384G>C	p.Glu462Gln	p.E462Q	ENST00000324266	5/12	94	83	11	109	109	0	strelka-mutect	TRAPPC12,missense_variant,p.Glu462Gln,ENST00000324266,NM_016030.5;TRAPPC12,missense_variant,p.Glu462Gln,ENST00000382110,NM_001321102.1;TRAPPC12,missense_variant,p.Glu106Gln,ENST00000441983,;TRAPPC12,missense_variant,p.Glu17Gln,ENST00000457845,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000469147,;TRAPPC12,missense_variant,p.Glu74Gln,ENST00000417243,;TRAPPC12,missense_variant,p.Glu5Gln,ENST00000441099,;TRAPPC12,downstream_gene_variant,,ENST00000411973,;	C	ENST00000324266	Transcript	missense_variant	1579/2508	1384/2208	462/735	E/Q	Gag/Cag	rs769005424,COSM3743789	1		1	TRAPPC12	HGNC	HGNC:24284	protein_coding	YES	CCDS1652.1	ENSP00000324318	Q8WVT3		UPI000014132D	NM_016030.5	tolerated(0.14)		5/12		hmmpanther:PTHR21581,hmmpanther:PTHR21581:SF6											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs769005424	.												C	3	2	50	3424630	3424630	G	C	1	0	0	0	0	1	0	0	0	16942	1059	37	4		4	TRAPPC12	2	3424630	Missense_Mutation	SNP	G	C3N-00547_TP	1775254	3424630	238768899	66	15527											
DCDC2C	0	.	GRCh38	chr2	3767871	3767871	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcagaacctttagtccaaAggggtgcaggtgacgtgcag	10	8	15	8	1	0	2	0	1	0	1	1	2	1	2	2	4	3	3	2	4	3	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.844A>T	p.Arg282Trp	p.R282W	ENST00000399143	7/11	64	27	37	74	74	0	strelka-varscan-mutect	DCDC2C,missense_variant,p.Arg282Trp,ENST00000399143,NM_001287444.1;DCDC2C,missense_variant,p.Arg245Trp,ENST00000423741,;DCDC2C,non_coding_transcript_exon_variant,,ENST00000537457,;	T	ENST00000399143	Transcript	missense_variant	1004/1480	844/1095	282/364	R/W	Agg/Tgg		1		1	DCDC2C	HGNC	HGNC:32696	protein_coding	YES	CCDS74481.1	ENSP00000382097	A8MYV0		UPI0002742D44	NM_001287444.1	deleterious(0)		7/11		hmmpanther:PTHR23004:SF9,hmmpanther:PTHR23004																	MODERATE	1	SNV	5			1										PASS		rs543756047	.												T	3	4	50	3767871	3767871	A	T	1	0	0	0	0	1	0	0	0	4089	63	3	4		4	DCDC2C	2	3767871	Missense_Mutation	SNP	A	C3N-00547_TP	343241	3767871	238425658	67	15528											
RNF144A	0	.	GRCh38	chr2	7039627	7039627	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctttgtttctttcttccAggttgtgggcatttttgcag	3	19	9	10	0	2	0	0	0	2	0	3	0	3	0	3	2	1	4	3	2	0	7	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.748-2A>T		p.X250_splice	ENST00000320892		86	43	43	116	116	0	strelka-varscan-mutect	RNF144A,splice_acceptor_variant,,ENST00000320892,NM_014746.4;RNF144A,intron_variant,,ENST00000432850,;RNF144A,splice_acceptor_variant,,ENST00000467276,;	T	ENST00000320892	Transcript	splice_acceptor_variant	-/5743	748/879	250/292				1		1	RNF144A	HGNC	HGNC:20457	protein_coding	YES	CCDS1657.1	ENSP00000321330	P50876		UPI00001E058A	NM_014746.4				8/8																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	50	7039627	7039627	A	T	1	0	0	0	0	0	0	1	0	13623	202	7	4		4	RNF144A	2	7039627	Splice_Site	SNP	A	C3N-00547_TP	3271756	7039627	235153902	68	15529											
APOB	0	.	GRCh38	chr2	21007119	21007119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacaactggaacagtgtatCcaggaatttgaaaggtcctg	13	10	11	7	0	0	2	0	2	0	0	2	4	2	4	2	3	2	1	2	3	5	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.9749G>T	p.Gly3250Val	p.G3250V	ENST00000233242	26/29	302	192	110	346	346	0	strelka-varscan-mutect	APOB,missense_variant,p.Gly3250Val,ENST00000233242,NM_000384.2;	A	ENST00000233242	Transcript	missense_variant	9877/14121	9749/13692	3250/4563	G/V	gGa/gTa		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	deleterious(0)		26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	21007119	21007119	C	A	1	0	0	0	0	1	0	0	0	907	855	30	2		2	APOB	2	21007119	Missense_Mutation	SNP	C	C3N-00547_TP	13967492	21007119	221186410	69	15530											
SLC35F6	0	.	GRCh38	chr2	26775049	26775049	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatccctgcaggcagtGggcatgttcctgggagaatt	7	13	12	9	0	1	1	1	0	0	1	3	2	3	1	2	3	1	4	2	3	1	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.156G>T	p.=	p.V52V	ENST00000344420	3/6	96	50	46	102	102	0	strelka-varscan-mutect	SLC35F6,synonymous_variant,p.=,ENST00000344420,NM_017877.3;CENPA,intron_variant,,ENST00000475662,;SLC35F6,intron_variant,,ENST00000482746,;SLC35F6,missense_variant,p.Trp28Leu,ENST00000429494,;SLC35F6,intron_variant,,ENST00000414029,;	T	ENST00000344420	Transcript	synonymous_variant	218/3898	156/1116	52/371	V	gtG/gtT		1		1	SLC35F6	HGNC	HGNC:26055	protein_coding	YES	CCDS1728.1	ENSP00000345528	Q8N357		UPI0000071B52	NM_017877.3			3/6		PIRSF_domain:PIRSF036436,hmmpanther:PTHR13146,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs1200554995	.												T	2	4	50	26775049	26775049	G	T	1	0	0	0	0	0	0	0	1	14864	1362	47	2		2	SLC35F6	2	26775049	Silent	SNP	G	C3N-00547_TP	5767930	26775049	215418480	70	15531											
SLC35F6	0	.	GRCh38	chr2	26778435	26778435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgggccgcctgtccagggGccggcccctggcagaggaga	5	4	18	14	2	0	2	0	0	0	2	1	3	1	2	6	6	0	2	6	6	0	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1040G>T	p.Gly347Val	p.G347V	ENST00000344420	6/6	111	71	40	106	106	0	strelka-varscan-mutect	SLC35F6,missense_variant,p.Gly347Val,ENST00000344420,NM_017877.3;CENPA,intron_variant,,ENST00000475662,;SLC35F6,downstream_gene_variant,,ENST00000482746,;SLC35F6,3_prime_UTR_variant,,ENST00000429494,;SLC35F6,3_prime_UTR_variant,,ENST00000414029,;	T	ENST00000344420	Transcript	missense_variant	1102/3898	1040/1116	347/371	G/V	gGc/gTc		1		1	SLC35F6	HGNC	HGNC:26055	protein_coding	YES	CCDS1728.1	ENSP00000345528	Q8N357		UPI0000071B52	NM_017877.3	tolerated(0.51)		6/6		PIRSF_domain:PIRSF036436,hmmpanther:PTHR13146,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	26778435	26778435	G	T	1	0	0	0	0	1	0	0	0	14864	1203	42	2		2	SLC35F6	2	26778435	Missense_Mutation	SNP	G	C3N-00547_TP	3386	26778435	215415094	71	15532											
LTBP1	0	.	GRCh38	chr2	33020940	33020940	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgccatgtcagaatggaggGatgtgtctccggccacaact	9	8	12	12	2	2	1	1	0	1	1	3	3	2	3	4	3	1	0	4	3	2	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.597G>A	p.=	p.G199G	ENST00000404816	3/34	63	40	23	82	82	0	strelka-varscan-mutect	LTBP1,synonymous_variant,p.=,ENST00000404816,NM_206943.2;	A	ENST00000404816	Transcript	synonymous_variant	950/6333	597/5166	199/1721	G	ggG/ggA		1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2			3/34		PROSITE_profiles:PS50026,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF39,SMART_domains:SM00181																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	50	33020940	33020940	G	A	1	0	0	0	0	0	0	0	1	8979	1161	41	3		3	LTBP1	2	33020940	Silent	SNP	G	C3N-00547_TP	6242505	33020940	209172589	72	15533											
FAM98A	0	.	GRCh38	chr2	33585416	33585416	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgatttcattgggtctaccaCctctgtcaggcaccctgccc	6	11	8	16	1	4	0	2	0	2	0	4	1	4	0	4	2	2	1	4	2	1	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.917G>T	p.Gly306Val	p.G306V	ENST00000238823	8/8	174	105	69	162	162	0	strelka-varscan-mutect	FAM98A,missense_variant,p.Gly306Val,ENST00000238823,NM_001304538.1,NM_015475.4;FAM98A,3_prime_UTR_variant,,ENST00000403368,;FAM98A,downstream_gene_variant,,ENST00000498340,;FAM98A,non_coding_transcript_exon_variant,,ENST00000474985,;FAM98A,non_coding_transcript_exon_variant,,ENST00000475122,;FAM98A,downstream_gene_variant,,ENST00000492649,;	A	ENST00000238823	Transcript	missense_variant	1058/2816	917/1557	306/518	G/V	gGt/gTt		1		-1	FAM98A	HGNC	HGNC:24520	protein_coding	YES	CCDS33179.1	ENSP00000238823	Q8NCA5		UPI000013F15A	NM_001304538.1,NM_015475.4	deleterious(0)		8/8		Pfam_domain:PF10239,hmmpanther:PTHR31353,hmmpanther:PTHR31353:SF9																	MODERATE	1	SNV	1			1										PASS		rs1371255855	.												A	3	1	50	33585416	33585416	C	A	1	0	0	0	0	1	0	0	0	5514	507	18	2		2	FAM98A	2	33585416	Missense_Mutation	SNP	C	C3N-00547_TP	564476	33585416	208608113	73	15534											
USP34	0	.	GRCh38	chr2	61266169	61266169	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatctctcaaaaattccTggggagtaaaaggaaacatg	17	9	9	6	0	2	1	1	0	1	1	4	3	3	3	1	3	1	1	1	3	6	3	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.5434-2A>T		p.X1812_splice	ENST00000398571		59	52	7	82	82	0	strelka-varscan-mutect	USP34,splice_acceptor_variant,,ENST00000398571,NM_014709.3;USP34,splice_acceptor_variant,,ENST00000453734,;USP34,intron_variant,,ENST00000472706,;USP34,splice_acceptor_variant,,ENST00000484179,;USP34,upstream_gene_variant,,ENST00000492882,;	A	ENST00000398571	Transcript	splice_acceptor_variant	-/11357	5434/10641	1812/3546				1		-1	USP34	HGNC	HGNC:20066	protein_coding	YES	CCDS42686.1	ENSP00000381577	Q70CQ2		UPI0000410E09	NM_014709.3				41/79																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	50	61266169	61266169	T	A	1	0	0	0	0	0	0	1	0	17607	1594	55	4		4	USP34	2	61266169	Splice_Site	SNP	T	C3N-00547_TP	27680753	61266169	180927360	74	15535											
APLF	0	.	GRCh38	chr2	68645872	68645872	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccaccaacacttccacCagcttcctttctgtgctcaa	10	11	4	16	0	2	0	1	0	1	0	4	0	4	0	5	0	4	2	5	0	3	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.51C>A	p.=	p.T17T	ENST00000303786	2/3	249	223	26	272	272	0	strelka-varscan-mutect	PROKR1,synonymous_variant,p.=,ENST00000303786,;APLF,synonymous_variant,p.=,ENST00000394342,NM_138964.2;APLF,non_coding_transcript_exon_variant,,ENST00000627740,;	A	ENST00000303786	Transcript	synonymous_variant	471/4273	51/1182	17/393	T	acC/acA		1		1	PROKR1	HGNC	HGNC:4524	protein_coding	YES	CCDS1889.1	ENSP00000303775	Q8TCW9		UPI000003EAA7				2/3		hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF229																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	50	68645872	68645872	C	A	1	0	0	0	0	0	0	0	1	897	581	21	2		2	APLF	2	68645872	Silent	SNP	C	C3N-00547_TP	7379703	68645872	173547657	75	15536											
EXOC6B	0	.	GRCh38	chr2	72513245	72513246	+	Frame_Shift_Ins	INS	-	-	A																															aaaatgtgatcttcaaccacINSaaaaaagctaagattgagga																								novel		C3N-00547_TP	C3N-00547_NB	-	-																c.1053dupT	p.Val352CysfsTer3	p.V352Cfs*3	ENST00000272427	11/22	120	97	23	127	127	0	sindel-varindel-pindel	EXOC6B,frameshift_variant,p.Val352CysfsTer3,ENST00000272427,NM_001321729.1,NM_001321734.1,NM_015189.1;EXOC6B,frameshift_variant,p.Val352CysfsTer3,ENST00000410104,;EXOC6B,frameshift_variant,p.Val352CysfsTer3,ENST00000634650,;EXOC6B,non_coding_transcript_exon_variant,,ENST00000485398,;EXOC6B,3_prime_UTR_variant,,ENST00000410112,;	A	ENST00000272427	Transcript	frameshift_variant	1184-1185/5918	1053-1054/2436	351-352/811	-/X	-/T		1		-1	EXOC6B	HGNC	HGNC:17085	protein_coding	YES	CCDS46333.1	ENSP00000272427	Q9Y2D4		UPI000046995C	NM_001321729.1,NM_001321734.1,NM_015189.1			11/22		hmmpanther:PTHR12702:SF3,hmmpanther:PTHR12702,PIRSF_domain:PIRSF025007																	HIGH	1	insertion	2			1										PASS		.	.												A	7	5	50	72513245	72513245	-	A	1	0	1	1	0	0	0	0	0	5177	478	17	0		0	EXOC6B	2	72513245	Frame_Shift_Ins	INS	-	C3N-00547_TP	3867373	72513245	169680284	76	15537											
LRRTM4	0	.	GRCh38	chr2	77518945	77518945	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcccacatatttccagaCaatgtgatggatattaatga	14	13	6	8	0	0	3	0	2	0	1	2	4	2	4	2	1	0	0	2	1	4	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.924G>A	p.=	p.L308L	ENST00000409093	3/4	135	85	50	177	177	0	strelka-varscan-mutect	LRRTM4,synonymous_variant,p.=,ENST00000409088,NM_024993.4;LRRTM4,synonymous_variant,p.=,ENST00000409911,;LRRTM4,synonymous_variant,p.=,ENST00000409282,NM_001282928.1;LRRTM4,synonymous_variant,p.=,ENST00000409093,NM_001282924.1;LRRTM4,synonymous_variant,p.=,ENST00000409884,NM_001134745.1;LRRTM4,downstream_gene_variant,,ENST00000456154,;	T	ENST00000409093	Transcript	synonymous_variant	1261/2247	924/1773	308/590	L	ttG/ttA		1		-1	LRRTM4	HGNC	HGNC:19411	protein_coding	YES	CCDS46346.1	ENSP00000386357	Q86VH4		UPI0000047808	NM_001282924.1			3/4		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF1,Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	50	77518945	77518945	C	T	1	0	0	0	0	0	0	0	1	8948	477	17	3		3	LRRTM4	2	77518945	Silent	SNP	C	C3N-00547_TP	5005700	77518945	164674584	77	15538											
KCNIP3	0	.	GRCh38	chr2	95310504	95310504	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggatcctgtccagcacAgccccacagggctcaggtag	10	6	12	13	0	1	0	1	0	0	0	3	1	3	1	4	3	2	3	4	3	2	1	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.165A>T	p.=	p.T55T	ENST00000295225	2/9	163	103	60	135	135	0	strelka-varscan-mutect	KCNIP3,synonymous_variant,p.=,ENST00000295225,NM_013434.4;KCNIP3,synonymous_variant,p.=,ENST00000360990,;KCNIP3,intron_variant,,ENST00000377181,;KCNIP3,non_coding_transcript_exon_variant,,ENST00000475491,;	T	ENST00000295225	Transcript	synonymous_variant	300/2940	165/771	55/256	T	acA/acT		1		1	KCNIP3	HGNC	HGNC:15523	protein_coding	YES	CCDS2013.1	ENSP00000295225	Q9Y2W7	A0A024RE22	UPI0000000CCD	NM_013434.4			2/9		hmmpanther:PTHR23055,hmmpanther:PTHR23055:SF61																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	95310504	95310504	A	T	1	0	0	0	0	0	0	0	1	7957	175	7	4		4	KCNIP3	2	95310504	Silent	SNP	A	C3N-00547_TP	17791559	95310504	146883025	78	15539											
DUSP2	0	.	GRCh38	chr2	96144344	96144344	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgactgcagctgcccaggaaCaggtagggcaagatctccac	11	6	12	12	0	1	2	0	1	1	1	2	3	1	3	2	3	4	4	2	3	3	1	rs762195420		C3N-00547_TP	C3N-00547_NB	C	C																c.540G>T	p.=	p.L180L	ENST00000288943	3/4	194	147	47	170	170	0	strelka-varscan-mutect	DUSP2,synonymous_variant,p.=,ENST00000288943,NM_004418.3;AC012307.2,downstream_gene_variant,,ENST00000449242,;DUSP2,non_coding_transcript_exon_variant,,ENST00000488952,;	A	ENST00000288943	Transcript	synonymous_variant	626/1688	540/945	180/314	L	ctG/ctT	rs762195420	1		-1	DUSP2	HGNC	HGNC:3068	protein_coding	YES	CCDS2016.1	ENSP00000288943	Q05923		UPI000012995D	NM_004418.3			3/4		Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF000939,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF109,SMART_domains:SM00195,Superfamily_domains:SSF52799																	LOW	1	SNV	1			1										PASS		rs762195420	.												A	2	1	50	96144344	96144344	C	A	1	0	0	0	0	0	0	0	1	4641	465	17	2		2	DUSP2	2	96144344	Silent	SNP	C	C3N-00547_TP	833840	96144344	146049185	79	15540											
CIAO1	0	.	GRCh38	chr2	96267670	96267670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaatgaggtcaagtcagtgGcttgggccccatctggcaac	11	8	12	10	0	3	1	2	1	1	0	3	1	3	1	2	4	1	2	2	4	4	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.334G>T	p.Ala112Ser	p.A112S	ENST00000488633	3/7	330	224	106	287	287	0	strelka-varscan-mutect	CIAO1,missense_variant,p.Ala112Ser,ENST00000488633,NM_004804.2;TMEM127,upstream_gene_variant,,ENST00000258439,NM_001193304.2,NM_017849.3;TMEM127,upstream_gene_variant,,ENST00000432959,;CIAO1,non_coding_transcript_exon_variant,,ENST00000469320,;CIAO1,non_coding_transcript_exon_variant,,ENST00000272402,;CIAO1,non_coding_transcript_exon_variant,,ENST00000491394,;	T	ENST00000488633	Transcript	missense_variant	553/1533	334/1020	112/339	A/S	Gct/Tct		1		1	CIAO1	HGNC	HGNC:14280	protein_coding	YES	CCDS2019.1	ENSP00000418287	O76071		UPI0000127987	NM_004804.2	tolerated(0.68)		3/7		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,HAMAP:MF_03037,hmmpanther:PTHR19920,hmmpanther:PTHR19920:SF0,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	96267670	96267670	G	T	1	0	0	0	0	1	0	0	0	3179	1203	42	2		2	CIAO1	2	96267670	Missense_Mutation	SNP	G	C3N-00547_TP	123326	96267670	145925859	80	15541											
SLC9A4	0	.	GRCh38	chr2	102503672	102503672	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagctatttgtcttacttAgctgctgaaaccctctatct	8	17	5	11	0	4	1	1	1	3	0	4	1	4	1	1	0	5	3	1	0	5	6	rs201016853		C3N-00547_TP	C3N-00547_NB	A	A																c.945A>T	p.Leu315Phe	p.L315F	ENST00000295269	3/12	192	118	74	187	187	0	strelka-varscan-mutect	SLC9A4,missense_variant,p.Leu315Phe,ENST00000295269,NM_001011552.3;SLC9A4,non_coding_transcript_exon_variant,,ENST00000492154,;	T	ENST00000295269	Transcript	missense_variant	1402/4138	945/2397	315/798	L/F	ttA/ttT	rs201016853	1		1	SLC9A4	HGNC	HGNC:11077	protein_coding	YES	CCDS33264.1	ENSP00000295269	Q6AI14		UPI000047F996	NM_001011552.3	deleterious(0.03)		3/12		Pfam_domain:PF00999,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF103,TIGRFAM_domain:TIGR00840,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs201016853	.												T	3	4	50	102503672	102503672	A	T	1	0	0	0	0	1	0	0	0	14998	417	15	4		4	SLC9A4	2	102503672	Missense_Mutation	SNP	A	C3N-00547_TP	6236002	102503672	139689857	81	15542											
ST6GAL2	0	.	GRCh38	chr2	106843095	106843095	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatgacgacagcgcagcTgcgcaggccgcgggggtgca	9	3	17	12	5	0	2	0	1	0	1	0	3	0	2	1	3	4	4	1	3	0	0	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.883A>T	p.Ser295Cys	p.S295C	ENST00000409382	2/6	36	21	15	35	35	0	strelka-varscan-mutect	ST6GAL2,missense_variant,p.Ser295Cys,ENST00000409382,NM_001142351.1;ST6GAL2,missense_variant,p.Ser295Cys,ENST00000361686,NM_001322362.1,NM_032528.2;ST6GAL2,missense_variant,p.Ser295Cys,ENST00000409087,NM_001142352.1;ST6GAL2,downstream_gene_variant,,ENST00000419159,;AC016994.2,downstream_gene_variant,,ENST00000425419,;	A	ENST00000409382	Transcript	missense_variant	1494/7275	883/1590	295/529	S/C	Agc/Tgc		1		-1	ST6GAL2	HGNC	HGNC:10861	protein_coding	YES	CCDS2073.1	ENSP00000386942	Q96JF0		UPI000007477B	NM_001142351.1			2/6		hmmpanther:PTHR13713:SF61,hmmpanther:PTHR13713,Pfam_domain:PF00777																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	106843095	106843095	T	A	1	0	0	0	0	1	0	0	0	15600	1580	55	4		4	ST6GAL2	2	106843095	Missense_Mutation	SNP	T	C3N-00547_TP	4339423	106843095	135350434	82	15543											
LIMS1	0	.	GRCh38	chr2	108655081	108655081	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaagcacccacgatggccTtctcaggccgagcgcgcccc	7	5	10	19	4	2	0	2	0	1	0	3	2	2	0	5	2	2	1	5	2	1	1	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.7T>G	p.Phe3Val	p.F3V	ENST00000338045	1/10	164	135	29	169	169	0	strelka-varscan-mutect	LIMS1,missense_variant,p.Phe3Val,ENST00000338045,NM_001193485.2;LIMS1,missense_variant,p.Phe3Val,ENST00000414829,;LIMS1,intron_variant,,ENST00000544547,NM_001193483.2;LIMS1,intron_variant,,ENST00000393310,NM_001193488.1;LIMS1,intron_variant,,ENST00000409441,NM_001193484.1;LIMS1,intron_variant,,ENST00000410093,NM_001193482.1;LIMS1,intron_variant,,ENST00000332345,NM_004987.5;LIMS1,intron_variant,,ENST00000428064,;LIMS1,upstream_gene_variant,,ENST00000434274,;LIMS1,non_coding_transcript_exon_variant,,ENST00000462817,;LIMS1,intron_variant,,ENST00000449684,;LIMS1,non_coding_transcript_exon_variant,,ENST00000474038,;LIMS1,non_coding_transcript_exon_variant,,ENST00000496653,;LIMS1,intron_variant,,ENST00000422797,;	G	ENST00000338045	Transcript	missense_variant	270/1876	7/1164	3/387	F/V	Ttc/Gtc		1		1	LIMS1	HGNC	HGNC:6616	protein_coding	YES	CCDS54385.1	ENSP00000337598	P48059		UPI0000207FB5	NM_001193485.2	tolerated_low_confidence(0.07)		1/10																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	108655081	108655081	T	G	1	0	0	0	0	1	0	0	0	8711	1609	56	5		5	LIMS1	2	108655081	Missense_Mutation	SNP	T	C3N-00547_TP	1811986	108655081	133538448	83	15544											
PTPN4	0	.	GRCh38	chr2	119809885	119809885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccgattgcctgctggcaGaacctacaatgtacgagcat	10	11	9	11	2	0	1	0	0	0	1	1	3	1	1	3	1	6	4	3	1	4	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.32G>T	p.Arg11Ile	p.R11I	ENST00000263708	2/27	172	133	39	173	173	0	strelka-varscan-mutect	PTPN4,missense_variant,p.Arg11Ile,ENST00000263708,NM_002830.3;PTPN4,missense_variant,p.Arg11Ile,ENST00000488279,;PTPN4,missense_variant,p.Arg11Ile,ENST00000420482,;PTPN4,non_coding_transcript_exon_variant,,ENST00000485247,;PTPN4,non_coding_transcript_exon_variant,,ENST00000460289,;PTPN4,downstream_gene_variant,,ENST00000460162,;	T	ENST00000263708	Transcript	missense_variant	803/10300	32/2781	11/926	R/I	aGa/aTa		1		1	PTPN4	HGNC	HGNC:9656	protein_coding	YES	CCDS2129.1	ENSP00000263708	P29074	A0A024RAE8	UPI0000000CA9	NM_002830.3	deleterious(0.01)		2/27		hmmpanther:PTHR19134:SF321,hmmpanther:PTHR19134,PIRSF_domain:PIRSF000927																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	119809885	119809885	G	T	1	0	0	0	0	1	0	0	0	12944	942	33	2		2	PTPN4	2	119809885	Missense_Mutation	SNP	G	C3N-00547_TP	11154804	119809885	122383644	84	15545											
POTEF	0	.	GRCh38	chr2	130074594	130074594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcaaggctggaagagcgCctcggggcagcggaaccgct	10	3	17	11	4	0	1	0	0	0	1	1	4	0	3	2	5	4	4	2	5	4	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2878G>T	p.Ala960Ser	p.A960S	ENST00000409914	17/17	199	164	35	207	207	0	strelka-varscan-mutect	POTEF,missense_variant,p.Ala960Ser,ENST00000409914,NM_001099771.2;	A	ENST00000409914	Transcript	missense_variant	3278/3842	2878/3228	960/1075	A/S	Gcg/Tcg		1		-1	POTEF	HGNC	HGNC:33905	protein_coding	YES	CCDS46409.1	ENSP00000386786	A5A3E0		UPI0000418FEA	NM_001099771.2	deleterious_low_confidence(0.04)		17/17		Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		rs1171274753	.												A	3	1	50	130074594	130074594	C	A	1	0	0	0	0	1	0	0	0	12379	739	26	2		2	POTEF	2	130074594	Missense_Mutation	SNP	C	C3N-00547_TP	10264709	130074594	112118935	85	15546											
CCDC74B	0	.	GRCh38	chr2	130140269	130140269	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttcgcaggggaaggggCaggatcattggggggtgtgc	6	8	21	6	1	1	0	1	0	0	0	2	2	1	2	0	9	1	3	0	9	1	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.786G>T	p.=	p.L262L	ENST00000310463	5/8	142	105	37	152	152	0	strelka-varscan-mutect	CCDC74B,synonymous_variant,p.=,ENST00000310463,NM_207310.2;CCDC74B,synonymous_variant,p.=,ENST00000409943,NM_001258307.1;CCDC74B,intron_variant,,ENST00000392984,;CCDC74B,downstream_gene_variant,,ENST00000409234,;CCDC74B,downstream_gene_variant,,ENST00000409128,;CCDC74B,downstream_gene_variant,,ENST00000457413,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,downstream_gene_variant,,ENST00000423263,;CCDC74B,downstream_gene_variant,,ENST00000434929,;CCDC74B,upstream_gene_variant,,ENST00000498526,;MED15P9,downstream_gene_variant,,ENST00000424716,;	A	ENST00000310463	Transcript	synonymous_variant	924/1549	786/1143	262/380	L	ctG/ctT		1		-1	CCDC74B	HGNC	HGNC:25267	protein_coding	YES	CCDS2155.1	ENSP00000308873	Q96LY2		UPI000006D822	NM_207310.2			5/8		Low_complexity_(Seg):seg,hmmpanther:PTHR14882,hmmpanther:PTHR14882:SF5																	LOW		SNV	2			1										PASS		rs1325812982	.												A	2	1	50	130140269	130140269	C	A	1	0	0	0	0	0	0	0	1	2548	697	25	2		2	CCDC74B	2	130140269	Silent	SNP	C	C3N-00547_TP	65675	130140269	112053260	86	15547											
POTEI	0	.	GRCh38	chr2	130463166	130463166	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcaaggctggaagagcgCctcggggcagcggaaccact	11	3	16	11	3	0	1	0	0	0	1	1	4	0	3	2	5	4	3	2	5	4	0	rs564436995		C3N-00547_TP	C3N-00547_NB	C	C																c.2878G>T	p.Ala960Ser	p.A960S	ENST00000451531	15/15	399	285	114	462	462	0	strelka-varscan-mutect	POTEI,missense_variant,p.Ala960Ser,ENST00000451531,NM_001277406.1;POTEI,downstream_gene_variant,,ENST00000631234,;POTEI,downstream_gene_variant,,ENST00000615053,;	A	ENST00000451531	Transcript	missense_variant	3309/7020	2878/3228	960/1075	A/S	Gcg/Tcg	rs564436995	1		-1	POTEI	HGNC	HGNC:37093	protein_coding	YES	CCDS59431.1	ENSP00000392718	P0CG38		UPI00006C04CB	NM_001277406.1	deleterious_low_confidence(0.03)		15/15		Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		rs564436995	.												A	3	1	50	130463166	130463166	C	A	1	0	0	0	0	1	0	0	0	12382	739	26	2		2	POTEI	2	130463166	Missense_Mutation	SNP	C	C3N-00547_TP	322897	130463166	111730363	87	15548											
AMER3	0	.	GRCh38	chr2	130762171	130762171	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggctgcagccagggagggGacaggcccctggtcagtcct	6	6	17	12	0	1	0	1	0	0	0	2	2	2	2	4	6	2	2	4	6	0	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.99G>A	p.=	p.G33G	ENST00000423981	2/2	135	123	12	152	152	0	strelka-mutect	AMER3,synonymous_variant,p.=,ENST00000423981,NM_001105193.1,NM_001105195.1,NM_001105194.1;AMER3,synonymous_variant,p.=,ENST00000321420,NM_152698.2;AMER3,synonymous_variant,p.=,ENST00000458606,;AMER3,synonymous_variant,p.=,ENST00000431758,;	A	ENST00000423981	Transcript	synonymous_variant	209/6172	99/2586	33/861	G	ggG/ggA		1		1	AMER3	HGNC	HGNC:26771	protein_coding	YES	CCDS2164.1	ENSP00000392700	Q8N944		UPI0000D61239	NM_001105193.1,NM_001105195.1,NM_001105194.1			2/2		hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2																	LOW	1	SNV	4			1										PASS		.	.												A	2	1	50	130762171	130762171	G	A	1	0	0	0	0	0	0	0	1	669	1161	41	3		3	AMER3	2	130762171	Silent	SNP	G	C3N-00547_TP	299005	130762171	111431358	88	15549											
AMER3	0	.	GRCh38	chr2	130764512	130764512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccaccatccagaaagcctgGgcctcactttgaacagccag	11	6	9	15	0	1	2	1	1	0	1	2	2	2	2	6	1	3	0	6	1	2	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2440G>T	p.Gly814Cys	p.G814C	ENST00000423981	2/2	325	248	77	327	327	0	strelka-varscan-mutect	AMER3,missense_variant,p.Gly814Cys,ENST00000423981,NM_001105193.1,NM_001105195.1,NM_001105194.1;AMER3,missense_variant,p.Gly814Cys,ENST00000321420,NM_152698.2;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	T	ENST00000423981	Transcript	missense_variant	2550/6172	2440/2586	814/861	G/C	Ggc/Tgc		1		1	AMER3	HGNC	HGNC:26771	protein_coding	YES	CCDS2164.1	ENSP00000392700	Q8N944		UPI0000D61239	NM_001105193.1,NM_001105195.1,NM_001105194.1	tolerated(0.31)		2/2		hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2																	MODERATE	1	SNV	4			1										PASS		.	.												T	3	4	50	130764512	130764512	G	T	1	0	0	0	0	1	0	0	0	669	1232	43	2		2	AMER3	2	130764512	Missense_Mutation	SNP	G	C3N-00547_TP	2341	130764512	111429017	89	15550											
POTEE	0	.	GRCh38	chr2	131263648	131263648	+	Frame_Shift_Del	DEL	C	C	-																															gatgccccccgggctgtcttCccttccatcgtggggcgccc																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2195delC	p.Pro732LeufsTer12	p.P732Lfs*12	ENST00000356920	15/15	67	43	24	123	123	0	sindel-varindel-pindel	POTEE,frameshift_variant,p.Pro732LeufsTer12,ENST00000356920,NM_001083538.1;POTEE,3_prime_UTR_variant,,ENST00000613282,;PLEKHB2,intron_variant,,ENST00000404460,;POTEE,downstream_gene_variant,,ENST00000626191,;POTEE,downstream_gene_variant,,ENST00000358087,;POTEE,downstream_gene_variant,,ENST00000514256,;	-	ENST00000356920	Transcript	frameshift_variant	2529/4159	2193/3228	731/1075	F/X	ttC/tt		1		1	POTEE	HGNC	HGNC:33895	protein_coding	YES	CCDS46414.1	ENSP00000439189	Q6S8J3		UPI0000F58EC8	NM_001083538.1			15/15		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	50	131263648	131263648	C	-	1	0	1	0	1	0	0	0	0	12378	854	30	0		0	POTEE	2	131263648	Frame_Shift_Del	DEL	C	C3N-00547_TP	499136	131263648	110929881	90	15551											
ANKRD30BL	0	.	GRCh38	chr2	132161688	132161688	+	Frame_Shift_Del	DEL	G	G	-																															gtctggcccttgacaggggcGgcagagagcctctccatggc																								rs555962095		C3N-00547_TP	C3N-00547_NB	G	G																c.18delC	p.Ala7ProfsTer27	p.A7Pfs*27	ENST00000409867	1/6	146	101	45	141	141	0	sindel-varindel-pindel	ANKRD30BL,frameshift_variant,p.Ala7ProfsTer27,ENST00000409867,;ANKRD30BL,intron_variant,,ENST00000470729,;ANKRD30BL,upstream_gene_variant,,ENST00000471048,;ANKRD30BL,frameshift_variant,p.Ala7ProfsTer27,ENST00000295181,;ANKRD30BL,non_coding_transcript_exon_variant,,ENST00000481691,;	-	ENST00000409867	Transcript	frameshift_variant	268/1251	18/777	6/258	A/X	gcC/gc	rs555962095	1		-1	ANKRD30BL	HGNC	HGNC:35167	protein_coding	YES		ENSP00000386398	A7E2S9		UPI0000160B5E				1/6		hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF10																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	50	132161688	132161688	G	-	1	0	1	0	1	0	0	0	0	763	1103	39	0		0	ANKRD30BL	2	132161688	Frame_Shift_Del	DEL	G	C3N-00547_TP	898040	132161688	110031841	91	15552											
NCKAP5	0	.	GRCh38	chr2	132783982	132783982	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgaatagtcatagctGggcctggccagcagggagac	9	7	16	9	0	1	2	1	1	0	1	1	3	1	2	2	4	2	3	2	4	3	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2829C>A	p.=	p.P943P	ENST00000409261	14/20	38	31	7	31	31	0	strelka-varscan-mutect	NCKAP5,synonymous_variant,p.=,ENST00000409261,NM_207363.2;NCKAP5,synonymous_variant,p.=,ENST00000317721,;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,intron_variant,,ENST00000409213,NM_207481.3;NCKAP5,upstream_gene_variant,,ENST00000473859,;	T	ENST00000409261	Transcript	synonymous_variant	3203/7594	2829/5730	943/1909	P	ccC/ccA		1		-1	NCKAP5	HGNC	HGNC:29847	protein_coding	YES	CCDS46418.1	ENSP00000387128	O14513		UPI0000E07A3F	NM_207363.2			14/20		hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF0																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	50	132783982	132783982	G	T	1	0	0	0	0	0	0	0	1	10241	1335	47	2		2	NCKAP5	2	132783982	Silent	SNP	G	C3N-00547_TP	622294	132783982	109409547	92	15553											
LCT	0	.	GRCh38	chr2	135817422	135817422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtagctcatcacccacggCtcatggaaggtcacccacag	10	6	10	15	2	4	0	4	0	0	0	4	1	4	1	2	3	1	3	2	3	2	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1626G>T	p.Glu542Asp	p.E542D	ENST00000264162	6/17	182	131	51	166	166	0	strelka-varscan-mutect	LCT,missense_variant,p.Glu542Asp,ENST00000264162,NM_002299.2;AC011893.3,upstream_gene_variant,,ENST00000437007,;LCT,upstream_gene_variant,,ENST00000452974,;	A	ENST00000264162	Transcript	missense_variant	1637/6279	1626/5784	542/1927	E/D	gaG/gaT		1		-1	LCT	HGNC	HGNC:6530	protein_coding	YES	CCDS2178.1	ENSP00000264162	P09848		UPI000013D4D2	NM_002299.2	tolerated(0.05)		6/17		Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	135817422	135817422	C	A	1	0	0	0	0	1	0	0	0	8599	796	28	2		2	LCT	2	135817422	Missense_Mutation	SNP	C	C3N-00547_TP	3033440	135817422	106376107	93	15554											
LRP1B	0	.	GRCh38	chr2	141229390	141229390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccattaagatagaaaacctCaattgtttcaaaatttgcaa	17	13	4	7	0	2	2	2	0	0	2	3	2	3	2	2	0	2	2	2	0	8	5			C3N-00547_TP	C3N-00547_NB	C	C																c.643G>C	p.Glu215Gln	p.E215Q	ENST00000389484	6/91	117	87	30	230	230	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Glu215Gln,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	G	ENST00000389484	Transcript	missense_variant	1615/16535	643/13800	215/4599	E/Q	Gag/Cag	COSM2152527	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(0.66)		6/91		Gene3D:2.120.10.30,Superfamily_domains:SSF63825											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	50	141229390	141229390	C	G	1	0	0	0	0	1	0	0	0	8850	835	29	4		4	LRP1B	2	141229390	Missense_Mutation	SNP	C	C3N-00547_TP	5411968	141229390	100964139	94	15555											
LRP1B	0	.	GRCh38	chr2	141229412	141229412	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgtttcaaaatttgcaatTaatagtataggtggtctatc	13	17	7	4	0	2	0	1	0	1	0	3	0	2	0	0	2	1	3	0	2	8	8	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.621A>G	p.=	p.L207L	ENST00000389484	6/91	97	74	23	183	183	0	strelka-varscan-mutect	LRP1B,synonymous_variant,p.=,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	C	ENST00000389484	Transcript	synonymous_variant	1593/16535	621/13800	207/4599	L	ttA/ttG		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2			6/91		Gene3D:2.120.10.30,Superfamily_domains:SSF63825																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	50	141229412	141229412	T	C	1	0	0	0	0	0	0	0	1	8850	1751	61	5		5	LRP1B	2	141229412	Silent	SNP	T	C3N-00547_TP	22	141229412	100964117	95	15556											
ZEB2	0	.	GRCh38	chr2	144398707	144398707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggctataatacttttgGgttctttcatttgttttggt	5	23	9	4	0	2	0	1	0	1	0	2	0	2	0	0	3	1	3	0	3	3	11	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2480C>A	p.Pro827His	p.P827H	ENST00000637267	9/11	192	144	48	189	188	1	strelka-varscan-mutect	ZEB2,missense_variant,p.Pro827His,ENST00000637267,;ZEB2,missense_variant,p.Pro852His,ENST00000636471,;ZEB2,missense_variant,p.Pro827His,ENST00000627532,NM_014795.3;ZEB2,missense_variant,p.Pro827His,ENST00000636026,;ZEB2,missense_variant,p.Pro715His,ENST00000638087,;ZEB2,missense_variant,p.Pro715His,ENST00000637304,;ZEB2,missense_variant,p.Pro715His,ENST00000638007,;ZEB2,missense_variant,p.Pro715His,ENST00000637045,;ZEB2,missense_variant,p.Pro715His,ENST00000636413,;ZEB2,missense_variant,p.Pro568His,ENST00000638128,;ZEB2,missense_variant,p.Pro827His,ENST00000409487,;ZEB2,missense_variant,p.Pro803His,ENST00000539609,NM_001171653.1;ZEB2,missense_variant,p.Pro827His,ENST00000558170,;ZEB2,missense_variant,p.Pro826His,ENST00000303660,;ZEB2,intron_variant,,ENST00000440875,;ZEB2,intron_variant,,ENST00000419938,;ZEB2,downstream_gene_variant,,ENST00000427902,;ZEB2,downstream_gene_variant,,ENST00000392861,;ZEB2,upstream_gene_variant,,ENST00000637873,;ZEB2,non_coding_transcript_exon_variant,,ENST00000636820,;ZEB2,non_coding_transcript_exon_variant,,ENST00000636179,;ZEB2,3_prime_UTR_variant,,ENST00000636732,;	T	ENST00000637267	Transcript	missense_variant	3321/9856	2480/3645	827/1214	P/H	cCc/cAc		1		-1	ZEB2	HGNC	HGNC:14881	protein_coding	YES	CCDS2186.1	ENSP00000490293			UPI00001359A2		tolerated(0.12)		9/11		hmmpanther:PTHR24391,hmmpanther:PTHR24391:SF11																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	50	144398707	144398707	G	T	1	0	0	0	0	1	0	0	0	18200	1232	43	2		2	ZEB2	2	144398707	Missense_Mutation	SNP	G	C3N-00547_TP	3169295	144398707	97794822	96	15557											
KIF5C	0	.	GRCh38	chr2	148929280	148929280	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctttttcttgttcacaGatgtccttgaaggttataac	9	19	6	7	0	3	2	1	1	2	1	4	2	4	2	1	1	1	2	1	1	3	8	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.218-1G>T		p.X73_splice	ENST00000435030		191	140	51	192	191	1	strelka-varscan-mutect	KIF5C,splice_acceptor_variant,,ENST00000435030,NM_004522.2;	T	ENST00000435030	Transcript	splice_acceptor_variant	-/6931	218/2874	73/957				1		1	KIF5C	HGNC	HGNC:6325	protein_coding	YES	CCDS74586.1	ENSP00000393379	O60282		UPI000012DDB7	NM_004522.2				2/25																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	50	148929280	148929280	G	T	1	0	0	0	0	0	0	1	0	8172	956	33	2		2	KIF5C	2	148929280	Splice_Site	SNP	G	C3N-00547_TP	4530573	148929280	93264249	97	15558											
KIF5C	0	.	GRCh38	chr2	148991164	148991164	+	Frame_Shift_Del	DEL	G	G	-																															gaagatgaatgccagcgagcGggagctggcagcctgccagc																								rs754771513		C3N-00547_TP	C3N-00547_NB	G	G																c.1873delG	p.Glu625SerfsTer19	p.E625Sfs*19	ENST00000435030	16/26	120	79	41	153	153	0	sindel-varindel-pindel	KIF5C,frameshift_variant,p.Glu625SerfsTer19,ENST00000435030,NM_004522.2;KIF5C,non_coding_transcript_exon_variant,,ENST00000464066,;KIF5C,non_coding_transcript_exon_variant,,ENST00000460377,;	-	ENST00000435030	Transcript	frameshift_variant	2239/6931	1871/2874	624/957	R/X	cGg/cg	rs754771513	1		1	KIF5C	HGNC	HGNC:6325	protein_coding	YES	CCDS74586.1	ENSP00000393379	O60282		UPI000012DDB7	NM_004522.2			16/26		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF380																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	50	148991164	148991164	G	-	1	0	1	0	1	0	0	0	0	8172	1116	39	0		0	KIF5C	2	148991164	Frame_Shift_Del	DEL	G	C3N-00547_TP	61884	148991164	93202365	98	15559											
TANC1	0	.	GRCh38	chr2	159149140	159149140	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttctttctttgttccAgaagcaaaggccgataatga	10	16	8	7	1	2	2	0	1	2	1	3	3	3	2	2	1	1	3	2	1	3	7	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.365-2A>G		p.X122_splice	ENST00000263635		41	23	18	38	38	0	strelka-mutect	TANC1,splice_acceptor_variant,,ENST00000263635,NM_033394.2,NM_001145909.1;TANC1,intron_variant,,ENST00000454300,;TANC1,splice_acceptor_variant,,ENST00000464096,;TANC1,non_coding_transcript_exon_variant,,ENST00000465963,;	G	ENST00000263635	Transcript	splice_acceptor_variant	-/7470	365/5586	122/1861				1		1	TANC1	HGNC	HGNC:29364	protein_coding	YES	CCDS42766.1	ENSP00000263635	Q9C0D5		UPI0000421D80	NM_033394.2,NM_001145909.1				5/26																		HIGH	1	SNV	5			1										PASS		.	.												G	5	3	50	159149140	159149140	A	G	1	0	0	0	0	0	0	1	0	15941	202	7	5		5	TANC1	2	159149140	Splice_Site	SNP	A	C3N-00547_TP	10157976	159149140	83044389	99	15560											
SCN3A	0	.	GRCh38	chr2	165154652	165154652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgttttcccagcagcacGtaatgtctaggggaaatggg	10	11	13	7	1	1	0	0	0	1	0	2	1	2	1	1	3	2	5	1	3	4	5	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1180C>A	p.Arg394Ser	p.R394S	ENST00000283254	11/28	316	220	96	303	303	0	strelka-varscan-mutect	SCN3A,missense_variant,p.Arg394Ser,ENST00000360093,;SCN3A,missense_variant,p.Arg394Ser,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,missense_variant,p.Arg394Ser,ENST00000409101,NM_001081677.1;SCN3A,missense_variant,p.Arg394Ser,ENST00000440431,;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000625505,;	T	ENST00000283254	Transcript	missense_variant	1648/9091	1180/6003	394/2000	R/S	Cgt/Agt		1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1	deleterious(0)		11/28		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		rs1006669315	.												T	3	4	50	165154652	165154652	G	T	1	0	0	0	0	1	0	0	0	14187	1145	40	1		1	SCN3A	2	165154652	Missense_Mutation	SNP	G	C3N-00547_TP	6005512	165154652	77038877	100	15561											
XIRP2	0	.	GRCh38	chr2	167239958	167239958	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaattgatgttcatggaaCagaaatggtaactatttaga	17	12	9	3	0	1	3	1	1	0	2	1	5	1	4	0	2	2	2	0	2	7	6	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.962C>G	p.Thr321Arg	p.T321R	ENST00000409195	6/11	65	53	12	119	119	0	strelka-varscan-mutect	XIRP2,missense_variant,p.Thr321Arg,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Thr99Arg,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Thr146Arg,ENST00000628543,;XIRP2,missense_variant,p.Thr354Arg,ENST00000409728,NM_001199143.1;XIRP2,missense_variant,p.Thr321Arg,ENST00000409043,NM_001079810.3;XIRP2,missense_variant,p.Thr99Arg,ENST00000409605,NM_001199145.1;	G	ENST00000409195	Transcript	missense_variant	1051/12675	962/10650	321/3549	T/R	aCa/aGa		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	tolerated(0.15)		6/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	50	167239958	167239958	C	G	1	0	0	0	0	1	0	0	0	17989	478	17	4		4	XIRP2	2	167239958	Missense_Mutation	SNP	C	C3N-00547_TP	2085306	167239958	74953571	101	15562											
LRP2	0	.	GRCh38	chr2	169175348	169175348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcatcagagccatctgagCagtctttctgtccatcacat	9	13	7	12	0	6	2	3	1	3	1	7	2	7	2	2	0	2	2	2	0	0	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.10613G>T	p.Cys3538Phe	p.C3538F	ENST00000263816	55/79	234	176	58	233	233	0	strelka-varscan-mutect	LRP2,missense_variant,p.Cys3538Phe,ENST00000263816,NM_004525.2;LRP2,downstream_gene_variant,,ENST00000461418,;	A	ENST00000263816	Transcript	missense_variant	10899/15808	10613/13968	3538/4655	C/F	tGc/tTc		1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2	deleterious(0)		55/79		Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_patterns:PS01209,PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF232,SMART_domains:SM00192,Superfamily_domains:SSF57424																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	169175348	169175348	C	A	1	0	0	0	0	1	0	0	0	8851	710	25	2		2	LRP2	2	169175348	Missense_Mutation	SNP	C	C3N-00547_TP	1935390	169175348	73018181	102	15563											
MYO3B	0	.	GRCh38	chr2	170407830	170407830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagctcttctcaatccCtctgaccaaaacaggtactt	11	11	5	14	0	4	1	2	1	3	0	6	1	5	1	2	1	4	3	2	1	4	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2636C>T	p.Pro879Leu	p.P879L	ENST00000408978	22/35	243	184	59	188	188	0	strelka-varscan-mutect	MYO3B,missense_variant,p.Pro879Leu,ENST00000408978,NM_138995.4;MYO3B,missense_variant,p.Pro879Leu,ENST00000409044,NM_001083615.3;MYO3B,missense_variant,p.Pro888Leu,ENST00000484338,;AC012594.1,intron_variant,,ENST00000625968,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,non_coding_transcript_exon_variant,,ENST00000469359,;MYO3B,missense_variant,p.Pro879Leu,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	T	ENST00000408978	Transcript	missense_variant	2779/5529	2636/4026	879/1341	P/L	cCt/cTt		1		1	MYO3B	HGNC	HGNC:15576	protein_coding	YES	CCDS42773.1	ENSP00000386213	Q8WXR4		UPI000020907B	NM_138995.4	deleterious(0)		22/35		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF476,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	170407830	170407830	C	T	1	0	0	0	0	1	0	0	0	10078	681	24	3		3	MYO3B	2	170407830	Missense_Mutation	SNP	C	C3N-00547_TP	1232482	170407830	71785699	103	15564											
AC013461.1	0	.	GRCh38	chr2	173191135	173191135	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagaagttatccagagTctccctgtgtcagaaacttg	10	11	9	11	0	2	3	1	0	1	3	5	3	4	3	3	0	1	2	3	0	3	2	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.540T>G	p.Ser180Arg	p.S180R	ENST00000375213	7/20	217	168	49	253	252	1	strelka-varscan-mutect	AC013461.1,missense_variant,p.Ser180Arg,ENST00000338983,NM_133646.2;AC013461.1,missense_variant,p.Ser180Arg,ENST00000375213,NM_016653.2;AC013461.1,missense_variant,p.Ser180Arg,ENST00000409176,;AC013461.1,missense_variant,p.Ser180Arg,ENST00000539448,;AC013461.1,downstream_gene_variant,,ENST00000422149,;MLK7-AS1,intron_variant,,ENST00000419609,;MLK7-AS1,intron_variant,,ENST00000422703,;AC013461.1,non_coding_transcript_exon_variant,,ENST00000480606,;AC013461.1,non_coding_transcript_exon_variant,,ENST00000468408,;AC013461.1,non_coding_transcript_exon_variant,,ENST00000476618,;	G	ENST00000375213	Transcript	missense_variant	618/3741	540/2403	180/800	S/R	agT/agG		1		1	AC013461.1	Clone_based_vega_gene		protein_coding	YES	CCDS42777.1	ENSP00000364361	Q9NYL2		UPI0000073F69	NM_016653.2	deleterious(0.04)		7/20		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF424,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	173191135	173191135	T	G	1	0	0	0	0	1	0	0	0	124	1664	58	5		5	AC013461.1	2	173191135	Missense_Mutation	SNP	T	C3N-00547_TP	2783305	173191135	69002394	104	15565											
HOXD10	0	.	GRCh38	chr2	176117183	176117183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaattgctgcatgtattCtgataagcgcaacaaactca	14	11	6	10	1	2	1	1	1	1	0	3	1	3	1	1	0	5	4	1	0	5	4			C3N-00547_TP	C3N-00547_NB	C	C																c.350C>A	p.Ser117Tyr	p.S117Y	ENST00000249501	1/2	128	88	40	136	136	0	strelka-varscan-mutect	HOXD10,missense_variant,p.Ser117Tyr,ENST00000249501,NM_002148.3;HOXD-AS2,downstream_gene_variant,,ENST00000440016,;HOXD10,intron_variant,,ENST00000490088,;HOXD10,intron_variant,,ENST00000549469,;	A	ENST00000249501	Transcript	missense_variant	605/1989	350/1023	117/340	S/Y	tCt/tAt	COSM4691025	1		1	HOXD10	HGNC	HGNC:5133	protein_coding	YES	CCDS2266.1	ENSP00000249501	P28358		UPI000013CC87	NM_002148.3	deleterious(0)		1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF49											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	50	176117183	176117183	C	A	1	0	0	0	0	1	0	0	0	7213	913	32	2		2	HOXD10	2	176117183	Missense_Mutation	SNP	C	C3N-00547_TP	2926048	176117183	66076346	105	15566											
TTN	0	.	GRCh38	chr2	178552199	178552199	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcagccttgatttcatcaAatcgaatgggtcctttgggc	9	14	9	9	1	3	1	3	1	0	0	5	2	4	1	2	2	1	0	2	2	3	4	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.90701T>C	p.Phe30234Ser	p.F30234S	ENST00000589042	335/363	79	70	9	78	78	0	strelka-varscan-mutect	TTN,missense_variant,p.Phe30234Ser,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Phe28593Ser,ENST00000591111,;TTN,missense_variant,p.Phe28593Ser,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Phe27666Ser,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Phe21169Ser,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Phe21361Ser,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Phe21294Ser,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.2,downstream_gene_variant,,ENST00000603415,;RP11-65L3.3,upstream_gene_variant,,ENST00000624360,;	G	ENST00000589042	Transcript	missense_variant	90926/109224	90701/107976	30234/35991	F/S	tTt/tCt		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			335/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	50	178552199	178552199	A	G	1	0	0	0	0	1	0	0	0	17245	14	1	5		5	TTN	2	178552199	Missense_Mutation	SNP	A	C3N-00547_TP	2435016	178552199	63641330	106	15567											
TTN	0	.	GRCh38	chr2	178557384	178557384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgactttgaagtgagttgtgCggatgaccagtttgttggct	7	15	14	5	1	0	4	0	4	0	0	0	5	0	5	1	2	1	4	1	2	1	4	rs202001776		C3N-00547_TP	C3N-00547_NB	C	C																c.87878G>A	p.Arg29293His	p.R29293H	ENST00000589042	329/363	398	378	20	656	656	0	strelka-varscan-mutect	TTN,missense_variant,p.Arg29293His,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Arg27652His,ENST00000591111,;TTN,missense_variant,p.Arg27652His,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Arg26725His,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Arg20228His,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Arg20420His,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Arg20353His,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.3,non_coding_transcript_exon_variant,,ENST00000624360,;	T	ENST00000589042	Transcript	missense_variant	88103/109224	87878/107976	29293/35991	R/H	cGc/cAc	rs202001776	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			329/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265										uncertain_significance							MODERATE		SNV	5		1	1										PASS		rs202001776	.												T	3	4	50	178557384	178557384	C	T	1	0	0	0	0	1	0	0	0	17245	768	27	1		1	TTN	2	178557384	Missense_Mutation	SNP	C	C3N-00547_TP	5185	178557384	63636145	107	15568											
TTN	0	.	GRCh38	chr2	178718923	178718923	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggtgaatgtgaggctcaTtccaggcaaaacttccacag	12	9	10	10	0	1	2	1	2	0	0	3	2	3	2	2	3	1	2	2	3	3	2	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.24277A>G	p.Met8093Val	p.M8093V	ENST00000589042	84/363	96	91	5	112	112	0	strelka-varscan-mutect	TTN,missense_variant,p.Met8093Val,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Met7776Val,ENST00000591111,;TTN,missense_variant,p.Met7776Val,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Met6849Val,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,;TTN-AS1,downstream_gene_variant,,ENST00000625536,;TTN-AS1,downstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000626117,;	C	ENST00000589042	Transcript	missense_variant	24502/109224	24277/107976	8093/35991	M/V	Atg/Gtg		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			84/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	50	178718923	178718923	T	C	1	0	0	0	0	1	0	0	0	17245	1493	52	5		5	TTN	2	178718923	Missense_Mutation	SNP	T	C3N-00547_TP	161539	178718923	63474606	108	15569											
NEUROD1	0	.	GRCh38	chr2	181677950	181677950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctgccagtgtcgctgcaGgatagtgcatggtaaaggca	9	8	13	11	1	0	0	0	0	0	0	1	1	0	1	3	3	3	5	3	3	3	2			C3N-00547_TP	C3N-00547_NB	G	G																c.911C>A	p.Pro304His	p.P304H	ENST00000295108	2/2	446	340	106	481	481	0	strelka-varscan-mutect	NEUROD1,missense_variant,p.Pro304His,ENST00000295108,NM_002500.4;CERKL,intron_variant,,ENST00000479558,;CERKL,intron_variant,,ENST00000497337,;NEUROD1,intron_variant,,ENST00000496876,;	T	ENST00000295108	Transcript	missense_variant	1369/2852	911/1071	304/356	P/H	cCt/cAt	COSM5660034	1		-1	NEUROD1	HGNC	HGNC:7762	protein_coding	YES	CCDS2283.1	ENSP00000295108	Q13562	A0A0S2Z493	UPI000013E207	NM_002500.4	deleterious(0.01)		2/2		PIRSF_domain:PIRSF015618											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	50	181677950	181677950	G	T	1	0	0	0	0	1	0	0	0	10385	1000	35	2		2	NEUROD1	2	181677950	Missense_Mutation	SNP	G	C3N-00547_TP	2959027	181677950	60515579	109	15570											
COL5A2	0	.	GRCh38	chr2	189078568	189078568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctggcattcccctcggaCcctatagacgatagagaaga	11	8	9	13	2	0	3	0	0	0	3	3	6	2	4	4	2	0	1	4	2	4	4	rs754787960		C3N-00547_TP	C3N-00547_NB	C	C																c.1007G>A	p.Gly336Asp	p.G336D	ENST00000374866	16/54	335	270	65	364	363	1	strelka-varscan-mutect	COL5A2,missense_variant,p.Gly336Asp,ENST00000374866,NM_000393.3;COL5A2,intron_variant,,ENST00000618828,;	T	ENST00000374866	Transcript	missense_variant,splice_region_variant	1282/6949	1007/4500	336/1499	G/D	gGt/gAt	rs754787960	1		-1	COL5A2	HGNC	HGNC:2210	protein_coding	YES	CCDS33350.1	ENSP00000364000	P05997		UPI00006C511C	NM_000393.3	deleterious(0)		16/54		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs754787960	.												T	3	4	50	189078568	189078568	C	T	1	0	0	0	0	1	0	0	0	3486	521	18	3		3	COL5A2	2	189078568	Missense_Mutation	SNP	C	C3N-00547_TP	7400618	189078568	53114961	110	15571											
DNAH7	0	.	GRCh38	chr2	195858522	195858522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctgactctaatattggCaaggcacctgccaggtcagc	10	9	11	11	0	2	1	1	1	1	0	2	1	2	1	2	3	3	3	2	3	3	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.8019G>T	p.Leu2673Phe	p.L2673F	ENST00000312428	43/65	76	69	7	64	64	0	strelka-varscan-mutect	DNAH7,missense_variant,p.Leu2673Phe,ENST00000312428,NM_018897.2;	A	ENST00000312428	Transcript	missense_variant	8120/12394	8019/12075	2673/4024	L/F	ttG/ttT		1		-1	DNAH7	HGNC	HGNC:18661	protein_coding	YES	CCDS42794.1	ENSP00000311273	Q8WXX0		UPI0000141B95	NM_018897.2	deleterious(0.01)		43/65		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12777																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	195858522	195858522	C	A	1	0	0	0	0	1	0	0	0	4421	709	25	2		2	DNAH7	2	195858522	Missense_Mutation	SNP	C	C3N-00547_TP	6779954	195858522	46335007	111	15572											
PARD3B	0	.	GRCh38	chr2	205172349	205172349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgagggatgatccagttgGtgattctgaggaggccagag	9	9	16	7	1	1	4	0	3	1	1	3	7	3	6	3	4	0	1	3	4	0	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1759G>A	p.Val587Met	p.V587M	ENST00000406610	12/23	170	157	13	155	155	0	strelka-varscan-mutect	PARD3B,missense_variant,p.Val587Met,ENST00000406610,NM_001302769.1;PARD3B,missense_variant,p.Val451Met,ENST00000613457,;PARD3B,missense_variant,p.Val513Met,ENST00000614500,;PARD3B,missense_variant,p.Val513Met,ENST00000622699,;PARD3B,missense_variant,p.Val525Met,ENST00000358768,NM_152526.5;PARD3B,missense_variant,p.Val587Met,ENST00000351153,NM_057177.6;PARD3B,missense_variant,p.Val587Met,ENST00000349953,NM_205863.3;PARD3B,missense_variant,p.Val587Met,ENST00000462231,;	A	ENST00000406610	Transcript	missense_variant	1966/8174	1759/3618	587/1205	V/M	Gtg/Atg		1		1	PARD3B	HGNC	HGNC:14446	protein_coding	YES	CCDS77511.1	ENSP00000385848	Q8TEW8		UPI0000070178	NM_001302769.1	deleterious(0.03)		12/23		Gene3D:2.30.42.10,hmmpanther:PTHR16484,hmmpanther:PTHR16484:SF4,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	205172349	205172349	G	A	1	0	0	0	0	1	0	0	0	11524	1261	44	3		3	PARD3B	2	205172349	Missense_Mutation	SNP	G	C3N-00547_TP	9313827	205172349	37021180	112	15573											
PTH2R	0	.	GRCh38	chr2	208493287	208493287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagaggtgaagaagatGtggagtcggtggaacctctc	11	7	16	7	1	1	4	0	1	1	3	3	6	1	6	1	5	1	1	1	5	3	0	rs770797290		C3N-00547_TP	C3N-00547_NB	G	G																c.1281G>T	p.Met427Ile	p.M427I	ENST00000272847	13/13	18	11	7	32	32	0	strelka-varscan-mutect	PTH2R,missense_variant,p.Met427Ile,ENST00000272847,NM_005048.3;PTH2R,missense_variant,p.Met316Ile,ENST00000617735,;AC019185.4,intron_variant,,ENST00000424628,;PTH2R,intron_variant,,ENST00000419079,;	T	ENST00000272847	Transcript	missense_variant	1494/2713	1281/1653	427/550	M/I	atG/atT	rs770797290	1		1	PTH2R	HGNC	HGNC:9609	protein_coding	YES	CCDS2383.1	ENSP00000272847	P49190		UPI000005041E	NM_005048.3	tolerated(0.11)		13/13		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF69,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		rs770797290	.												T	3	4	50	208493287	208493287	G	T	1	0	0	0	0	1	0	0	0	12916	1377	48	2		2	PTH2R	2	208493287	Missense_Mutation	SNP	G	C3N-00547_TP	3320938	208493287	33700242	113	15574											
CPS1	0	.	GRCh38	chr2	210612275	210612275	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgaaccaagcagcacgcgTatctatgccattgccaaggt	11	9	9	12	2	2	1	0	1	2	0	2	1	2	1	3	1	5	3	3	1	5	3			C3N-00547_TP	C3N-00547_NB	T	T																c.2568T>A	p.=	p.R856R	ENST00000430249	21/39	494	425	69	485	485	0	strelka-varscan-mutect	CPS1,synonymous_variant,p.=,ENST00000233072,NM_001875.4;CPS1,synonymous_variant,p.=,ENST00000430249,NM_001122633.2;CPS1,synonymous_variant,p.=,ENST00000451903,NM_001122634.3;	A	ENST00000430249	Transcript	synonymous_variant	2623/5698	2568/4521	856/1506	R	cgT/cgA	COSM4154775,COSM4154776	1		1	CPS1	HGNC	HGNC:2323	protein_coding	YES	CCDS46505.1	ENSP00000402608	P31327		UPI000166C19F	NM_001122633.2			21/39		hmmpanther:PTHR11405:SF38,hmmpanther:PTHR11405,Pfam_domain:PF02787,TIGRFAM_domain:TIGR01369,Gene3D:1.10.1030.10,SMART_domains:SM01096,Superfamily_domains:0034967											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	50	210612275	210612275	T	A	1	0	0	0	0	0	0	0	1	3619	1625	57	4		4	CPS1	2	210612275	Silent	SNP	T	C3N-00547_TP	2118988	210612275	31581254	114	15575											
ABCA12	0	.	GRCh38	chr2	215052512	215052512	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccaagaattcgtgcgAgcacttgactgccattgaaa	13	8	9	11	2	0	3	0	2	0	1	1	4	0	3	3	0	4	1	3	0	4	3	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.482T>A	p.Leu161His	p.L161H	ENST00000272895	5/53	397	260	137	429	429	0	strelka-varscan-mutect	ABCA12,missense_variant,p.Leu161His,ENST00000272895,NM_173076.2;AC072062.3,intron_variant,,ENST00000628464,;AC072062.3,intron_variant,,ENST00000626134,;AC072062.3,intron_variant,,ENST00000626771,;	T	ENST00000272895	Transcript	missense_variant	702/9100	482/7788	161/2595	L/H	cTc/cAc		1		-1	ABCA12	HGNC	HGNC:14637	protein_coding	YES	CCDS33372.1	ENSP00000272895	Q86UK0		UPI000019AB7A	NM_173076.2	tolerated(0.08)		5/53																			MODERATE	1	SNV	1			1										PASS		rs1481610281	.												T	3	4	50	215052512	215052512	A	T	1	0	0	0	0	1	0	0	0	34	304	11	4		4	ABCA12	2	215052512	Missense_Mutation	SNP	A	C3N-00547_TP	4440237	215052512	27141017	115	15576											
PTPRN	0	.	GRCh38	chr2	219307532	219307532	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggcctgccccactccCacctggcactgcccaaacaa	8	4	9	20	1	0	0	0	0	0	0	1	0	1	0	7	3	3	1	7	3	2	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.192G>T	p.=	p.V64V	ENST00000295718	3/23	76	65	11	109	109	0	strelka-varscan-mutect	PTPRN,synonymous_variant,p.=,ENST00000295718,NM_002846.3;PTPRN,synonymous_variant,p.=,ENST00000409251,NM_001199763.1;PTPRN,synonymous_variant,p.=,ENST00000440552,;PTPRN,5_prime_UTR_variant,,ENST00000423636,NM_001199764.1;PTPRN,5_prime_UTR_variant,,ENST00000446182,;PTPRN,5_prime_UTR_variant,,ENST00000412847,;PTPRN,5_prime_UTR_variant,,ENST00000442029,;PTPRN,5_prime_UTR_variant,,ENST00000451506,;AC114803.3,downstream_gene_variant,,ENST00000417355,;PTPRN,non_coding_transcript_exon_variant,,ENST00000468454,;PTPRN,3_prime_UTR_variant,,ENST00000606213,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,non_coding_transcript_exon_variant,,ENST00000477819,;PTPRN,non_coding_transcript_exon_variant,,ENST00000484986,;PTPRN,upstream_gene_variant,,ENST00000476930,;	A	ENST00000295718	Transcript	synonymous_variant	433/3784	192/2940	64/979	V	gtG/gtT		1		-1	PTPRN	HGNC	HGNC:9676	protein_coding	YES	CCDS2440.1	ENSP00000295718	Q16849		UPI0000132999	NM_002846.3			3/23		Pfam_domain:PF14948,SMART_domains:SM01305																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	219307532	219307532	C	A	1	0	0	0	0	0	0	0	1	12961	581	21	2		2	PTPRN	2	219307532	Silent	SNP	C	C3N-00547_TP	4255020	219307532	22885997	116	15577											
DNPEP	0	.	GRCh38	chr2	219382092	219382092	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagatccgccgcagcacCagctctgtcagcagtgactg	8	7	12	14	2	2	2	1	2	1	1	3	3	3	2	3	0	3	5	3	0	0	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.984G>T	p.=	p.L328L	ENST00000273075	11/15	183	159	24	148	148	0	strelka-varscan-mutect	DNPEP,synonymous_variant,p.=,ENST00000273075,NM_012100.2;DNPEP,synonymous_variant,p.=,ENST00000523282,;DNPEP,synonymous_variant,p.=,ENST00000373972,NM_001319121.1;DNPEP,synonymous_variant,p.=,ENST00000457935,;DNPEP,downstream_gene_variant,,ENST00000322176,;DNPEP,downstream_gene_variant,,ENST00000429013,;DNPEP,downstream_gene_variant,,ENST00000521459,;DNPEP,downstream_gene_variant,,ENST00000434339,;DNPEP,downstream_gene_variant,,ENST00000430206,;DNPEP,downstream_gene_variant,,ENST00000519905,;DNPEP,upstream_gene_variant,,ENST00000490371,;DNPEP,3_prime_UTR_variant,,ENST00000373966,;DNPEP,3_prime_UTR_variant,,ENST00000373963,;DNPEP,non_coding_transcript_exon_variant,,ENST00000488881,;DNPEP,downstream_gene_variant,,ENST00000460963,;DNPEP,downstream_gene_variant,,ENST00000520694,;DNPEP,downstream_gene_variant,,ENST00000522421,;DNPEP,downstream_gene_variant,,ENST00000523527,;DNPEP,downstream_gene_variant,,ENST00000519698,;DNPEP,upstream_gene_variant,,ENST00000488051,;DNPEP,upstream_gene_variant,,ENST00000462779,;	A	ENST00000273075	Transcript	synonymous_variant	1205/2425	984/1458	328/485	L	ctG/ctT		1		-1	DNPEP	HGNC	HGNC:2981	protein_coding	YES	CCDS42823.1	ENSP00000273075	Q9ULA0		UPI0000169DCA	NM_012100.2			11/15		hmmpanther:PTHR28570,hmmpanther:PTHR28570:SF3,Gene3D:3.40.630.10,Pfam_domain:PF02127,Superfamily_domains:SSF53187																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	219382092	219382092	C	A	1	0	0	0	0	0	0	0	1	4492	581	21	2		2	DNPEP	2	219382092	Silent	SNP	C	C3N-00547_TP	74560	219382092	22811437	117	15578											
SPEG	0	.	GRCh38	chr2	219448994	219448994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcaggagccctgtgccGccccccgccgccgatccccc	4	4	12	21	4	0	0	0	0	0	0	1	3	1	1	9	1	3	1	9	1	0	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1836G>A	p.=	p.P612P	ENST00000312358	4/41	54	47	7	54	54	0	strelka-varscan-mutect	SPEG,synonymous_variant,p.=,ENST00000312358,NM_005876.4;SPEG,synonymous_variant,p.=,ENST00000396698,;SPEG,downstream_gene_variant,,ENST00000431523,;SPEG,downstream_gene_variant,,ENST00000435853,;SPEG,downstream_gene_variant,,ENST00000451076,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,upstream_gene_variant,,ENST00000462545,;SPEG,downstream_gene_variant,,ENST00000491248,;SPEG,upstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000497065,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,intron_variant,,ENST00000409595,;SPEG,downstream_gene_variant,,ENST00000452101,;SPEG,downstream_gene_variant,,ENST00000420132,;SPEG,downstream_gene_variant,,ENST00000403148,;	A	ENST00000312358	Transcript	synonymous_variant	1968/10782	1836/9804	612/3267	P	ccG/ccA		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4			4/41		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs748658115	.												A	2	1	50	219448994	219448994	G	A	1	0	0	0	0	0	0	0	1	15387	1074	38	1		1	SPEG	2	219448994	Silent	SNP	G	C3N-00547_TP	66902	219448994	22744535	118	15579											
EPHA4	0	.	GRCh38	chr2	221564263	221564263	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatttaatctcaatataCaccctctgagccccttctcg	10	13	5	13	1	3	2	1	2	3	0	5	2	3	2	3	0	2	0	3	0	5	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.291G>C	p.=	p.V97V	ENST00000281821	3/18	236	220	16	242	242	0	strelka-varscan-mutect	EPHA4,synonymous_variant,p.=,ENST00000281821,NM_001304536.1,NM_001304537.1,NM_004438.4;EPHA4,synonymous_variant,p.=,ENST00000409854,;EPHA4,synonymous_variant,p.=,ENST00000409938,;EPHA4,synonymous_variant,p.=,ENST00000541600,;EPHA4,synonymous_variant,p.=,ENST00000419964,;EPHA4,intron_variant,,ENST00000443796,;EPHA4,downstream_gene_variant,,ENST00000434266,;EPHA4,3_prime_UTR_variant,,ENST00000415749,;	G	ENST00000281821	Transcript	synonymous_variant	333/6346	291/2961	97/986	V	gtG/gtC		1		-1	EPHA4	HGNC	HGNC:3388	protein_coding	YES	CCDS2447.1	ENSP00000281821	P54764	A0A024R452	UPI000012A077	NM_001304536.1,NM_001304537.1,NM_004438.4			3/18		PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF337,hmmpanther:PTHR24416,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,Gene3D:2.60.120.260,SMART_domains:SM00615,Superfamily_domains:SSF49785																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	50	221564263	221564263	C	G	1	0	0	0	0	0	0	0	1	5016	465	17	4		4	EPHA4	2	221564263	Silent	SNP	C	C3N-00547_TP	2115269	221564263	20629266	119	15580											
DNER	0	.	GRCh38	chr2	229547011	229547011	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcatttgcgtgactctccCccggcacacaggtgctgacc	7	9	10	15	2	2	2	1	2	1	0	3	2	2	2	3	2	2	2	3	2	0	1	rs752786455		C3N-00547_TP	C3N-00547_NB	C	C																c.929G>T	p.Gly310Val	p.G310V	ENST00000341772	5/13	190	147	43	264	264	0	strelka-varscan-mutect	DNER,missense_variant,p.Gly310Val,ENST00000341772,NM_139072.3;	A	ENST00000341772	Transcript	missense_variant	1064/3260	929/2214	310/737	G/V	gGg/gTg	rs752786455	1		-1	DNER	HGNC	HGNC:24456	protein_coding	YES	CCDS33390.1	ENSP00000345229	Q8NFT8		UPI0000048EB8	NM_139072.3	tolerated(0.17)		5/13		PROSITE_profiles:PS50026,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		rs752786455	.												A	3	1	50	229547011	229547011	C	A	1	0	0	0	0	1	0	0	0	4480	623	22	2		2	DNER	2	229547011	Missense_Mutation	SNP	C	C3N-00547_TP	7982748	229547011	12646518	120	15581											
NMUR1	0	.	GRCh38	chr2	231525316	231525316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccggagatgacgtgcacGtgctggaaggccaggtgcag	9	6	17	9	3	0	2	0	1	0	1	0	4	0	3	2	4	4	3	2	4	1	0	rs773347918		C3N-00547_TP	C3N-00547_NB	G	G																c.1008C>A	p.His336Gln	p.H336Q	ENST00000305141	3/3	223	200	23	286	286	0	strelka-varscan-mutect	NMUR1,missense_variant,p.His336Gln,ENST00000305141,NM_006056.4;	T	ENST00000305141	Transcript	missense_variant	1142/3298	1008/1281	336/426	H/Q	caC/caA	rs773347918	1		-1	NMUR1	HGNC	HGNC:4518	protein_coding	YES	CCDS2486.1	ENSP00000305877	Q9HB89		UPI0000071CAE	NM_006056.4	tolerated(0.09)		3/3		PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF109,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01565,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs773347918	.												T	3	4	50	231525316	231525316	G	T	1	0	0	0	0	1	0	0	0	10547	1136	40	1		1	NMUR1	2	231525316	Missense_Mutation	SNP	G	C3N-00547_TP	1978305	231525316	10668213	121	15582											
USP40	0	.	GRCh38	chr2	233523180	233523180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagttacctgttatcatCatgagaatcctgaattaaaa	15	12	7	7	1	2	2	2	2	0	1	3	4	3	2	2	0	2	2	2	0	6	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2224G>T	p.Asp742Tyr	p.D742Y	ENST00000450966	15/31	77	50	27	95	95	0	strelka-varscan-mutect	USP40,missense_variant,p.Asp730Tyr,ENST00000251722,;USP40,missense_variant,p.Asp742Tyr,ENST00000450966,NM_018218.2;USP40,missense_variant,p.Asp730Tyr,ENST00000427112,;USP40,missense_variant,p.Asp25Tyr,ENST00000452724,;USP40,downstream_gene_variant,,ENST00000485943,;	A	ENST00000450966	Transcript	missense_variant	2224/5616	2224/3744	742/1247	D/Y	Gat/Tat		1		-1	USP40	HGNC	HGNC:20069	protein_coding	YES	CCDS46547.1	ENSP00000415434	Q9NVE5		UPI0000232F06	NM_018218.2	deleterious(0.01)		15/31																			MODERATE	1	SNV	1			1										PASS		rs970374942	.												A	3	1	50	233523180	233523180	C	A	1	0	0	0	0	1	0	0	0	17614	826	29	2		2	USP40	2	233523180	Missense_Mutation	SNP	C	C3N-00547_TP	1997864	233523180	8670349	122	15583											
OR6B2	0	.	GRCh38	chr2	240030235	240030235	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatctccaggaaagacatGgagctcagaaagtagtacat	16	7	10	8	0	2	3	1	0	1	3	3	5	2	5	1	2	2	3	1	2	4	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.195C>A	p.=	p.S65S	ENST00000402971	1/1	286	189	97	358	357	1	strelka-varscan-mutect	OR6B2,synonymous_variant,p.=,ENST00000402971,NM_001005853.1;NDUFA10,upstream_gene_variant,,ENST00000252711,NM_004544.3;NDUFA10,upstream_gene_variant,,ENST00000404554,;NDUFA10,upstream_gene_variant,,ENST00000620965,;NDUFA10,upstream_gene_variant,,ENST00000307300,;NDUFA10,upstream_gene_variant,,ENST00000443626,;NDUFA10,upstream_gene_variant,,ENST00000407129,;NDUFA10,upstream_gene_variant,,ENST00000485344,;NDUFA10,upstream_gene_variant,,ENST00000497536,;NDUFA10,upstream_gene_variant,,ENST00000414580,;	T	ENST00000402971	Transcript	synonymous_variant	222/1492	195/939	65/312	S	tcC/tcA		1		-1	OR6B2	HGNC	HGNC:15041	protein_coding	YES	CCDS46559.1	ENSP00000384563	Q6IFH4		UPI0000061EBF	NM_001005853.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF313,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW		SNV				1										PASS		.	.												T	2	4	50	240030235	240030235	G	T	1	0	0	0	0	0	0	0	1	11256	1335	47	2		2	OR6B2	2	240030235	Silent	SNP	G	C3N-00547_TP	6507055	240030235	2163294	123	15584											
AQP12B	0	.	GRCh38	chr2	240682713	240682713	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgagctgcaccgcgcccAccgcctcccgggcgaagact	6	3	11	21	6	0	1	0	0	0	1	1	3	1	1	7	1	2	2	7	1	1	0	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.125T>A	p.Val42Glu	p.V42E	ENST00000407834	1/3	878	692	186	827	827	0	strelka-varscan-mutect	AQP12B,splice_donor_variant,,ENST00000621682,;AQP12B,missense_variant,p.Val42Glu,ENST00000407834,NM_001102467.1;AC011298.2,upstream_gene_variant,,ENST00000407635,;AQP12B,upstream_gene_variant,,ENST00000459806,;AQP12B,intron_variant,,ENST00000414322,;AQP12B,intron_variant,,ENST00000413999,;AQP12B,intron_variant,,ENST00000452886,;	T	ENST00000407834	Transcript	missense_variant	188/1094	125/924	42/307	V/E	gTg/gAg		1		-1	AQP12B	HGNC	HGNC:6096	protein_coding	YES	CCDS46560.1	ENSP00000384894	A6NM10		UPI0000F705B9	NM_001102467.1	deleterious(0.01)		1/3		hmmpanther:PTHR21191:SF8,hmmpanther:PTHR21191,PIRSF_domain:PIRSF017529,Gene3D:1.20.1080.10,Superfamily_domains:SSF81338																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	240682713	240682713	A	T	1	0	0	0	0	1	0	0	0	948	159	6	4		4	AQP12B	2	240682713	Missense_Mutation	SNP	A	C3N-00547_TP	652478	240682713	1510816	124	15585											
NEU4	0	.	GRCh38	chr2	241815084	241815084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtggccagccgtgacGccggcctctcgtggggcagc	3	7	17	14	4	1	1	0	1	1	0	2	1	1	1	4	4	2	2	4	4	0	0	rs766104247		C3N-00547_TP	C3N-00547_NB	G	G																c.433G>T	p.Ala145Ser	p.A145S	ENST00000325935	3/4	89	58	31	103	103	0	strelka-varscan-mutect	NEU4,missense_variant,p.Ala132Ser,ENST00000391969,NM_001167602.2;NEU4,missense_variant,p.Ala144Ser,ENST00000404257,NM_080741.3;NEU4,missense_variant,p.Ala145Ser,ENST00000325935,NM_001167599.2;NEU4,missense_variant,p.Ala132Ser,ENST00000407683,NM_001167601.2,NM_001167600.2;NEU4,missense_variant,p.Ala132Ser,ENST00000405370,;NEU4,missense_variant,p.Ala132Ser,ENST00000420288,;NEU4,missense_variant,p.Ala132Ser,ENST00000423583,;NEU4,intron_variant,,ENST00000415936,;NEU4,intron_variant,,ENST00000426032,;NEU4,downstream_gene_variant,,ENST00000428592,;NEU4,downstream_gene_variant,,ENST00000435894,;NEU4,downstream_gene_variant,,ENST00000435934,;AC114730.3,upstream_gene_variant,,ENST00000413820,;AC114730.3,upstream_gene_variant,,ENST00000420272,;AC114730.3,upstream_gene_variant,,ENST00000439270,;NEU4,missense_variant,p.Ala132Ser,ENST00000435855,;NEU4,non_coding_transcript_exon_variant,,ENST00000618597,;NEU4,downstream_gene_variant,,ENST00000488997,;NEU4,downstream_gene_variant,,ENST00000476542,;NEU4,downstream_gene_variant,,ENST00000494678,;	T	ENST00000325935	Transcript	missense_variant	862/2288	433/1494	145/497	A/S	Gcc/Tcc	rs766104247	1		1	NEU4	HGNC	HGNC:21328	protein_coding	YES	CCDS54441.1	ENSP00000320318	Q8WWR8		UPI0000EE378E	NM_001167599.2	tolerated(0.21)		3/4		Gene3D:2.120.10.10,Pfam_domain:PF13088,hmmpanther:PTHR10628,hmmpanther:PTHR10628:SF22,Superfamily_domains:SSF50939																	MODERATE	1	SNV	1			1										PASS		rs766104247	.												T	3	4	50	241815084	241815084	G	T	1	0	0	0	0	1	0	0	0	10379	1087	38	1		1	NEU4	2	241815084	Missense_Mutation	SNP	G	C3N-00547_TP	1132371	241815084	378445	125	15586											
CHL1	0	.	GRCh38	chr3	398253	398253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatcgggaagatatcaggaGtaaatcttactcaaaagact	16	10	9	6	1	3	2	2	0	1	2	4	4	3	4	0	2	1	2	0	2	8	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.3121G>T	p.Val1041Leu	p.V1041L	ENST00000256509	25/28	64	49	15	102	102	0	strelka-varscan-mutect	CHL1,missense_variant,p.Val1041Leu,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Val1025Leu,ENST00000397491,NM_001253387.1;CHL1,intron_variant,,ENST00000620033,NM_001253388.1;CHL1,intron_variant,,ENST00000445697,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	T	ENST00000256509	Transcript	missense_variant	3763/8023	3121/3675	1041/1224	V/L	Gta/Tta		1		1	CHL1	HGNC	HGNC:1939	protein_coding	YES	CCDS2556.1	ENSP00000256509	O00533		UPI000013CF0F	NM_006614.3	tolerated(0.17)		25/28		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF653																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	398253	398253	G	T	1	0	0	0	0	1	0	0	0	3108	1029	36	2		2	CHL1	3	398253	Missense_Mutation	SNP	G	C3N-00547_TP		398253	197897306	126	15587											
CNTN6	0	.	GRCh38	chr3	1329844	1329844	+	Frame_Shift_Del	DEL	G	G	-																															agtcttttgttcaagttggtGgggatattgttatcggatgc																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1276delG	p.Asp426IlefsTer55	p.D426Ifs*55	ENST00000446702	11/23	113	82	31	175	175	0	sindel-varindel-pindel	CNTN6,frameshift_variant,p.Asp426IlefsTer55,ENST00000446702,;CNTN6,frameshift_variant,p.Asp426IlefsTer55,ENST00000350110,NM_014461.3,NM_001289080.1,NM_001289081.1;CNTN6,3_prime_UTR_variant,,ENST00000397479,;	-	ENST00000446702	Transcript	frameshift_variant	1900/4513	1273/3087	425/1028	G/X	Ggg/gg		1		1	CNTN6	HGNC	HGNC:2176	protein_coding	YES	CCDS2557.1	ENSP00000407822	Q9UQ52	A0A024R2C7	UPI0000072430				11/23		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF52,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	50	1329844	1329844	G	-	1	0	1	0	1	0	0	0	0	3426	1348	47	0		0	CNTN6	3	1329844	Frame_Shift_Del	DEL	G	C3N-00547_TP	931591	1329844	196965715	127	15588											
RAD18	0	.	GRCh38	chr3	8913715	8913715	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgatttctcgaactatttCagcagctgttaaaataagaa	14	14	6	7	2	2	1	1	0	1	1	4	3	2	1	0	0	3	3	0	0	6	6	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.895G>T	p.Glu299Ter	p.E299*	ENST00000264926	8/13	53	43	10	84	84	0	strelka-varscan-mutect	RAD18,stop_gained,p.Glu299Ter,ENST00000264926,NM_020165.3;RAD18,intron_variant,,ENST00000415439,;RAD18,upstream_gene_variant,,ENST00000473069,;	A	ENST00000264926	Transcript	stop_gained	1012/5886	895/1488	299/495	E/*	Gaa/Taa		1		-1	RAD18	HGNC	HGNC:18278	protein_coding	YES	CCDS2571.1	ENSP00000264926	Q9NS91		UPI000013D592	NM_020165.3			8/13		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14134,hmmpanther:PTHR14134:SF2																	HIGH	1	SNV	1			1										PASS		rs1432145620	.												A	4	1	50	8913715	8913715	C	A	1	0	0	0	0	0	1	0	0	13140	840	29	2		2	RAD18	3	8913715	Nonsense_Mutation	SNP	C	C3N-00547_TP	7583871	8913715	189381844	128	15589											
GRIP2	0	.	GRCh38	chr3	14505717	14505717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctcggtgggtggggggCtgcccctcagccagccaggc	3	5	20	13	1	1	0	1	0	0	0	2	0	1	0	4	8	3	2	4	8	0	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2762G>T	p.Ser921Ile	p.S921I	ENST00000619221	21/25	86	59	27	156	155	1	strelka-varscan-mutect	GRIP2,missense_variant,p.Ser921Ile,ENST00000619221,;GRIP2,missense_variant,p.Ser824Ile,ENST00000621039,NM_001080423.3;GRIP2,missense_variant,p.Ser829Ile,ENST00000637182,;GRIP2,missense_variant,p.Ser283Ile,ENST00000430219,;	A	ENST00000619221	Transcript	missense_variant	2762/7977	2762/3423	921/1140	S/I	aGc/aTc		1		-1	GRIP2	HGNC	HGNC:23841	protein_coding	YES		ENSP00000480660		A0A087WX15	UPI0001DD380B		tolerated(0.05)		21/25																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	14505717	14505717	C	A	1	0	0	0	0	1	0	0	0	6669	797	28	2		2	GRIP2	3	14505717	Missense_Mutation	SNP	C	C3N-00547_TP	5592002	14505717	183789842	129	15590											
BTD	0	.	GRCh38	chr3	15644768	15644768	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctaatgtccaccacccAgttctggggatgacaggaag	11	7	12	11	0	1	1	0	1	1	0	2	3	2	3	3	3	1	3	3	3	2	2	rs778024234		C3N-00547_TP	C3N-00547_NB	A	A																c.918A>T	p.=	p.P306P	ENST00000437172	6/6	286	223	63	315	315	0	strelka-varscan-mutect	BTD,synonymous_variant,p.=,ENST00000383778,NM_001281725.1;BTD,synonymous_variant,p.=,ENST00000437172,NM_001281724.1;BTD,synonymous_variant,p.=,ENST00000303498,NM_000060.3;BTD,synonymous_variant,p.=,ENST00000449107,NM_001281723.1;BTD,downstream_gene_variant,,ENST00000436193,;BTD,downstream_gene_variant,,ENST00000482824,;	T	ENST00000437172	Transcript	synonymous_variant	1150/2097	918/1638	306/545	P	ccA/ccT	rs778024234	1		1	BTD	HGNC	HGNC:1122	protein_coding	YES	CCDS63564.1	ENSP00000400995	P43251		UPI00017A7026	NM_001281724.1			6/6		Gene3D:3.60.110.10,PIRSF_domain:PIRSF011861,PROSITE_profiles:PS50263,hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF17,Superfamily_domains:SSF56317																	LOW	1	SNV	2			1										PASS		rs778024234	.												T	2	4	50	15644768	15644768	A	T	1	0	0	0	0	0	0	0	1	1726	175	7	4		4	BTD	3	15644768	Silent	SNP	A	C3N-00547_TP	1139051	15644768	182650791	130	15591											
KCNH8	0	.	GRCh38	chr3	19390523	19390523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacttatgtcagcaagtctgGccaagttatctttgaagcaa	13	12	8	8	0	3	1	1	1	2	0	3	1	3	1	1	1	3	3	1	1	7	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.854G>T	p.Gly285Val	p.G285V	ENST00000328405	6/16	112	98	14	184	184	0	strelka-varscan-mutect	KCNH8,missense_variant,p.Gly285Val,ENST00000328405,NM_144633.2;KCNH8,non_coding_transcript_exon_variant,,ENST00000475063,;KCNH8,3_prime_UTR_variant,,ENST00000452398,;	T	ENST00000328405	Transcript	missense_variant	1120/5137	854/3324	285/1107	G/V	gGc/gTc		1		1	KCNH8	HGNC	HGNC:18864	protein_coding	YES	CCDS2632.1	ENSP00000328813	Q96L42		UPI0000167D12	NM_144633.2	deleterious(0)		6/16		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR01465																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	19390523	19390523	G	T	1	0	0	0	0	1	0	0	0	7954	1203	42	2		2	KCNH8	3	19390523	Missense_Mutation	SNP	G	C3N-00547_TP	3745755	19390523	178905036	131	15592											
THRB	0	.	GRCh38	chr3	24133434	24133434	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccttctggggcattgActattggtgcttgtccaatg	6	15	10	10	0	1	1	0	1	1	0	3	1	3	1	3	3	1	2	3	3	2	6	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.767T>C	p.Val256Ala	p.V256A	ENST00000396671	9/11	462	416	46	475	475	0	strelka-varscan-mutect	THRB,missense_variant,p.Val256Ala,ENST00000396671,NM_001128176.2;THRB,missense_variant,p.Val256Ala,ENST00000356447,NM_000461.4,NM_001128177.1;THRB,missense_variant,p.Val256Ala,ENST00000416420,NM_001252634.1;THRB,missense_variant,p.Val271Ala,ENST00000280696,;	G	ENST00000396671	Transcript	missense_variant	1163/7506	767/1386	256/461	V/A	gTc/gCc		1		-1	THRB	HGNC	HGNC:11799	protein_coding	YES	CCDS2641.1	ENSP00000379904	P10828	F1D8N7	UPI0000136D26	NM_001128176.2	tolerated(0.47)		9/11		hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF210,Gene3D:1.10.565.10,Superfamily_domains:SSF48508																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	50	24133434	24133434	A	G	1	0	0	0	0	1	0	0	0	16309	275	10	5		5	THRB	3	24133434	Missense_Mutation	SNP	A	C3N-00547_TP	4742911	24133434	174162125	132	15593											
SCN5A	0	.	GRCh38	chr3	38581041	38581041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacgggctctggatcccCgggggtgccctggcctggtt	4	8	15	14	2	1	0	0	0	1	0	2	1	2	1	4	6	1	2	4	6	0	1	rs199473186		C3N-00547_TP	C3N-00547_NB	C	C																c.3118G>T	p.Gly1040Trp	p.G1040W	ENST00000413689	17/28	145	113	32	179	179	0	strelka-varscan-mutect	SCN5A,missense_variant,p.Gly1040Trp,ENST00000413689,NM_001099404.1;SCN5A,missense_variant,p.Gly1040Trp,ENST00000333535,NM_198056.2;SCN5A,missense_variant,p.Gly1040Trp,ENST00000425664,NM_001099405.1;SCN5A,missense_variant,p.Gly1040Trp,ENST00000423572,NM_000335.4;SCN5A,missense_variant,p.Gly1040Trp,ENST00000451551,NM_001160161.1;SCN5A,missense_variant,p.Gly1040Trp,ENST00000414099,;SCN5A,missense_variant,p.Gly1040Trp,ENST00000455624,NM_001160160.1;SCN5A,missense_variant,p.Gly1040Trp,ENST00000450102,;SCN5A,missense_variant,p.Gly1040Trp,ENST00000449557,;	A	ENST00000413689	Transcript	missense_variant	3312/8504	3118/6051	1040/2016	G/W	Ggg/Tgg	rs199473186	1		-1	SCN5A	HGNC	HGNC:10593	protein_coding	YES	CCDS46799.1	ENSP00000410257		H9KVD2	UPI0001572CC8	NM_001099404.1	deleterious(0.02)		17/28		Pfam_domain:PF06512,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF206,Low_complexity_(Seg):seg												19841300					MODERATE	1	SNV	5		1	1										PASS		rs199473186	.												A	3	1	50	38581041	38581041	C	A	1	0	0	0	0	1	0	0	0	14191	652	23	1		1	SCN5A	3	38581041	Missense_Mutation	SNP	C	C3N-00547_TP	14447607	38581041	159714518	133	15594											
SCN5A	0	.	GRCh38	chr3	38597727	38597727	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagctgcaggcagcccttAccaggtttccgacctgcagc	7	7	11	16	1	0	0	0	0	0	0	1	1	1	0	5	2	6	5	5	2	1	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.2262+2T>C		p.X754_splice	ENST00000413689		49	43	6	61	61	0	strelka-varscan-mutect	SCN5A,splice_donor_variant,,ENST00000413689,NM_001099404.1;SCN5A,splice_donor_variant,,ENST00000333535,NM_198056.2;SCN5A,splice_donor_variant,,ENST00000425664,NM_001099405.1;SCN5A,splice_donor_variant,,ENST00000423572,NM_000335.4;SCN5A,splice_donor_variant,,ENST00000451551,NM_001160161.1;SCN5A,splice_donor_variant,,ENST00000414099,;SCN5A,splice_donor_variant,,ENST00000455624,NM_001160160.1;SCN5A,splice_donor_variant,,ENST00000450102,;SCN5A,splice_donor_variant,,ENST00000449557,;	G	ENST00000413689	Transcript	splice_donor_variant	-/8504	2262/6051	754/2016				1		-1	SCN5A	HGNC	HGNC:10593	protein_coding	YES	CCDS46799.1	ENSP00000410257		H9KVD2	UPI0001572CC8	NM_001099404.1				14/27																		HIGH	1	SNV	5			1										PASS		.	.												G	5	3	50	38597727	38597727	A	G	1	0	0	0	0	0	0	1	0	14191	405	14	5		5	SCN5A	3	38597727	Splice_Site	SNP	A	C3N-00547_TP	16686	38597727	159697832	134	15595											
SCN10A	0	.	GRCh38	chr3	38697931	38697931	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgcaaagtccgagagAgcagaaaaggtaataaactg	16	7	12	6	1	1	2	0	0	1	2	2	4	2	2	1	1	3	3	1	1	6	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.5289T>A	p.=	p.A1763A	ENST00000449082	27/27	330	276	54	397	397	0	strelka-varscan-mutect	SCN10A,synonymous_variant,p.=,ENST00000449082,NM_001293306.2,NM_006514.3,NM_001293307.2;	T	ENST00000449082	Transcript	synonymous_variant	5289/6418	5289/5871	1763/1956	A	gcT/gcA		1		-1	SCN10A	HGNC	HGNC:10582	protein_coding	YES	CCDS33736.1	ENSP00000390600	Q9Y5Y9		UPI0000209BDA	NM_001293306.2,NM_006514.3,NM_001293307.2			27/27		hmmpanther:PTHR10037:SF208,hmmpanther:PTHR10037																	LOW	1	SNV	1			1										PASS		rs1307495200	.												T	2	4	50	38697931	38697931	A	T	1	0	0	0	0	0	0	0	1	14181	291	11	4		4	SCN10A	3	38697931	Silent	SNP	A	C3N-00547_TP	100204	38697931	159597628	135	15596											
XIRP1	0	.	GRCh38	chr3	39188310	39188310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaatagccacagggtggagCggacatcaccagggaccact	13	4	12	12	1	1	0	1	0	0	0	1	3	1	3	3	4	2	0	3	4	2	1	rs559059786		C3N-00547_TP	C3N-00547_NB	C	C																c.1136G>T	p.Arg379Leu	p.R379L	ENST00000340369	2/2	199	167	32	234	234	0	strelka-varscan-mutect	XIRP1,missense_variant,p.Arg379Leu,ENST00000340369,NM_194293.2;XIRP1,missense_variant,p.Arg379Leu,ENST00000396251,NM_001198621.2;XIRP1,intron_variant,,ENST00000421646,;	A	ENST00000340369	Transcript	missense_variant	1365/6460	1136/5532	379/1843	R/L	cGc/cTc	rs559059786	1		-1	XIRP1	HGNC	HGNC:14301	protein_coding	YES	CCDS2683.1	ENSP00000343140	Q702N8		UPI00001BFB06	NM_194293.2	deleterious(0)		2/2		PROSITE_profiles:PS51389,hmmpanther:PTHR22591,Pfam_domain:PF08043																	MODERATE	1	SNV	1			1										PASS		rs559059786	.												A	3	1	50	39188310	39188310	C	A	1	0	0	0	0	1	0	0	0	17988	768	27	1		1	XIRP1	3	39188310	Missense_Mutation	SNP	C	C3N-00547_TP	490379	39188310	159107249	136	15597											
ZNF619	0	.	GRCh38	chr3	40486994	40486994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagataggggattgcacaGatttgacagtccaggatcat	14	9	11	7	0	1	3	1	1	0	2	2	5	2	5	1	3	1	1	1	3	2	3			C3N-00547_TP	C3N-00547_NB	G	G																c.604G>T	p.Asp202Tyr	p.D202Y	ENST00000447116	6/6	159	126	33	176	176	0	strelka-varscan-mutect	ZNF619,missense_variant,p.Asp202Tyr,ENST00000447116,NM_001145082.2;ZNF619,missense_variant,p.Asp153Tyr,ENST00000429348,;ZNF619,missense_variant,p.Asp146Tyr,ENST00000314686,;ZNF619,missense_variant,p.Asp118Tyr,ENST00000456778,NM_001145083.1;ZNF619,missense_variant,p.Asp153Tyr,ENST00000522736,;ZNF619,missense_variant,p.Asp202Tyr,ENST00000521353,;ZNF619,missense_variant,p.Asp162Tyr,ENST00000432264,NM_001145093.2;ZNF619,non_coding_transcript_exon_variant,,ENST00000520737,;ZNF619,3_prime_UTR_variant,,ENST00000494154,;ZNF619,downstream_gene_variant,,ENST00000462961,;	T	ENST00000447116	Transcript	missense_variant	911/4153	604/1851	202/616	D/Y	Gat/Tat	COSM126466	1		1	ZNF619	HGNC	HGNC:26910	protein_coding	YES	CCDS46802.1	ENSP00000411132	Q8N2I2		UPI000192B90D	NM_001145082.2	deleterious(0.01)		6/6		hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF138											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	50	40486994	40486994	G	T	1	0	0	0	0	1	0	0	0	18618	942	33	2		2	ZNF619	3	40486994	Missense_Mutation	SNP	G	C3N-00547_TP	1298684	40486994	157808565	137	15598											
PTPN23	0	.	GRCh38	chr3	47409715	47409715	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctatgaggacctgatgaaGaagtcgcaggagggcaggga	12	5	17	7	1	0	4	0	3	0	1	1	7	0	7	2	4	0	2	2	4	3	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2010G>C	p.Lys670Asn	p.K670N	ENST00000265562	19/25	178	157	21	210	210	0	strelka-varscan-mutect	PTPN23,missense_variant,p.Lys670Asn,ENST00000265562,NM_001304482.1,NM_015466.3;SCAP,downstream_gene_variant,,ENST00000265565,NM_012235.2;SCAP,downstream_gene_variant,,ENST00000428413,;SCAP,downstream_gene_variant,,ENST00000545718,;PTPN23,downstream_gene_variant,,ENST00000456221,;PTPN23,3_prime_UTR_variant,,ENST00000602307,;PTPN23,non_coding_transcript_exon_variant,,ENST00000495653,;SCAP,downstream_gene_variant,,ENST00000441517,NM_001320044.1;SCAP,downstream_gene_variant,,ENST00000320017,;PTPN23,downstream_gene_variant,,ENST00000477276,;	C	ENST00000265562	Transcript	missense_variant	2087/5244	2010/4911	670/1636	K/N	aaG/aaC		1		1	PTPN23	HGNC	HGNC:14406	protein_coding	YES	CCDS2754.1	ENSP00000265562	Q9H3S7		UPI000006EBC4	NM_001304482.1,NM_015466.3	deleterious(0.02)		19/25		Gene3D:2xs1A03,Pfam_domain:PF13949																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	47409715	47409715	G	C	1	0	0	0	0	1	0	0	0	12942	933	33	4		4	PTPN23	3	47409715	Missense_Mutation	SNP	G	C3N-00547_TP	6922721	47409715	150885844	138	15599											
QARS	0	.	GRCh38	chr3	49099645	49099645	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagccagaagtaggaagagCgtctggggtgggagagtagg	13	5	19	4	1	1	3	0	0	1	3	1	5	1	4	1	5	2	2	1	5	5	2	rs549522450		C3N-00547_TP	C3N-00547_NB	C	C																c.1391G>T	p.Arg464Leu	p.R464L	ENST00000306125	16/24	138	111	27	152	152	0	strelka-varscan-mutect	QARS,missense_variant,p.Arg464Leu,ENST00000306125,NM_005051.2;QARS,missense_variant,p.Arg453Leu,ENST00000414533,NM_001272073.1;QARS,missense_variant,p.Arg319Leu,ENST00000464962,;QARS,missense_variant,p.Arg116Leu,ENST00000634432,;QARS,downstream_gene_variant,,ENST00000635443,;QARS,downstream_gene_variant,,ENST00000452739,;QARS,downstream_gene_variant,,ENST00000635541,;QARS,upstream_gene_variant,,ENST00000453392,;QARS,downstream_gene_variant,,ENST00000634527,;QARS,downstream_gene_variant,,ENST00000635622,;QARS,downstream_gene_variant,,ENST00000635194,;QARS,downstream_gene_variant,,ENST00000635231,;QARS,downstream_gene_variant,,ENST00000635292,;QARS,downstream_gene_variant,,ENST00000634602,;QARS,upstream_gene_variant,,ENST00000466179,;QARS,downstream_gene_variant,,ENST00000620931,;QARS,downstream_gene_variant,,ENST00000635501,;QARS,downstream_gene_variant,,ENST00000470619,;QARS,downstream_gene_variant,,ENST00000470225,;QARS,upstream_gene_variant,,ENST00000637908,;QARS,downstream_gene_variant,,ENST00000479495,;QARS,downstream_gene_variant,,ENST00000417025,;QARS,downstream_gene_variant,,ENST00000634425,;QARS,downstream_gene_variant,,ENST00000634359,;QARS,missense_variant,p.Arg408Leu,ENST00000636669,;QARS,missense_variant,p.Arg94Leu,ENST00000637281,;QARS,splice_region_variant,,ENST00000430182,;QARS,splice_region_variant,,ENST00000636018,;QARS,splice_region_variant,,ENST00000637543,;QARS,splice_region_variant,,ENST00000637113,;QARS,splice_region_variant,,ENST00000478561,;QARS,splice_region_variant,,ENST00000482468,;QARS,upstream_gene_variant,,ENST00000459870,;QARS,downstream_gene_variant,,ENST00000482261,;QARS,downstream_gene_variant,,ENST00000494767,;QARS,downstream_gene_variant,,ENST00000494838,;QARS,upstream_gene_variant,,ENST00000470113,;QARS,downstream_gene_variant,,ENST00000635375,;QARS,upstream_gene_variant,,ENST00000482248,;QARS,downstream_gene_variant,,ENST00000634724,;QARS,upstream_gene_variant,,ENST00000494984,;QARS,upstream_gene_variant,,ENST00000634473,;QARS,downstream_gene_variant,,ENST00000482438,;QARS,downstream_gene_variant,,ENST00000634802,;QARS,downstream_gene_variant,,ENST00000635278,;QARS,downstream_gene_variant,,ENST00000634953,;QARS,downstream_gene_variant,,ENST00000635052,;QARS,downstream_gene_variant,,ENST00000635494,;QARS,downstream_gene_variant,,ENST00000418549,;QARS,downstream_gene_variant,,ENST00000634609,;QARS,upstream_gene_variant,,ENST00000634336,;QARS,upstream_gene_variant,,ENST00000487495,;QARS,upstream_gene_variant,,ENST00000497635,;	A	ENST00000306125	Transcript	missense_variant,splice_region_variant	1793/2827	1391/2328	464/775	R/L	cGc/cTc	rs549522450	1		-1	QARS	HGNC	HGNC:9751	protein_coding	YES	CCDS2788.1	ENSP00000307567	P47897		UPI000013661E	NM_005051.2	deleterious(0)		16/24		hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF39,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00440,Pfam_domain:PF00749,Superfamily_domains:SSF52374																	MODERATE	1	SNV	1			1										PASS		rs549522450	.												A	3	1	50	49099645	49099645	C	A	1	0	0	0	0	1	0	0	0	13026	782	27	1		1	QARS	3	49099645	Missense_Mutation	SNP	C	C3N-00547_TP	1689930	49099645	149195914	139	15600											
DOCK3	0	.	GRCh38	chr3	51225657	51225657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccccgcaggtgatatcCgcaatgacctgtacctaacc	9	10	7	15	2	0	2	0	2	0	0	2	2	2	2	6	1	2	3	6	1	4	4			C3N-00547_TP	C3N-00547_NB	C	C																c.1261C>A	p.Arg421Ser	p.R421S	ENST00000266037	15/53	65	49	16	81	81	0	strelka-varscan-mutect	DOCK3,missense_variant,p.Arg421Ser,ENST00000266037,NM_004947.4;	A	ENST00000266037	Transcript	missense_variant	1284/8755	1261/6093	421/2030	R/S	Cgc/Agc	COSM3595642,COSM3595643	1		1	DOCK3	HGNC	HGNC:2989	protein_coding	YES	CCDS46835.1	ENSP00000266037	Q8IZD9		UPI000007412C	NM_004947.4	deleterious(0)		15/53		PROSITE_profiles:PS51650,hmmpanther:PTHR23317:SF66,hmmpanther:PTHR23317,Pfam_domain:PF14429											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1253633877	.												A	3	1	50	51225657	51225657	C	A	1	0	0	0	0	1	0	0	0	4503	652	23	1		1	DOCK3	3	51225657	Missense_Mutation	SNP	C	C3N-00547_TP	2126012	51225657	147069902	140	15601											
DCAF1	0	.	GRCh38	chr3	51419839	51419839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagtttattggcgcttgcCgcctctgttttggctcagga	6	15	11	9	2	2	0	1	0	1	0	2	1	2	1	2	3	1	4	2	3	3	7	rs782189293		C3N-00547_TP	C3N-00547_NB	C	C																c.3131G>T	p.Arg1044Leu	p.R1044L	ENST00000423656	14/25	174	133	41	199	199	0	strelka-varscan-mutect	DCAF1,missense_variant,p.Arg1043Leu,ENST00000504652,NM_001171904.1;DCAF1,missense_variant,p.Arg1044Leu,ENST00000423656,NM_014703.2;DCAF1,missense_variant,p.Arg595Leu,ENST00000335891,;	A	ENST00000423656	Transcript	missense_variant	3261/5946	3131/4524	1044/1507	R/L	cGg/cTg	rs782189293	1		-1	DCAF1	HGNC	HGNC:30911	protein_coding	YES	CCDS74943.1	ENSP00000393183	Q9Y4B6		UPI00000716AC	NM_014703.2	tolerated(0.09)		14/25		hmmpanther:PTHR13129,hmmpanther:PTHR13129:SF4																	MODERATE	1	SNV	5			1										PASS		rs782189293	.												A	3	1	50	51419839	51419839	C	A	1	0	0	0	0	1	0	0	0	4061	652	23	1		1	DCAF1	3	51419839	Missense_Mutation	SNP	C	C3N-00547_TP	194182	51419839	146875720	141	15602											
TLR9	0	.	GRCh38	chr3	52222802	52222802	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgcgagatgcagttgTggctcaggcgcaggcactgc	6	8	15	12	2	1	1	1	0	0	1	1	2	1	1	1	3	4	5	1	3	0	1	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.1514A>G	p.His505Arg	p.H505R	ENST00000360658	2/2	164	135	29	240	240	0	strelka-varscan-mutect	TLR9,missense_variant,p.His505Arg,ENST00000360658,NM_017442.3;RP11-330H6.5,missense_variant,p.His659Arg,ENST00000494383,;RP11-330H6.6,upstream_gene_variant,,ENST00000624096,;RP11-330H6.5,downstream_gene_variant,,ENST00000478201,;	C	ENST00000360658	Transcript	missense_variant	2148/3870	1514/3099	505/1032	H/R	cAc/cGc		1		-1	TLR9	HGNC	HGNC:15633	protein_coding	YES	CCDS2848.1	ENSP00000353874	Q9NR96		UPI0000001625	NM_017442.3	tolerated(0.11)		2/2		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF37,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	52222802	52222802	T	C	1	0	0	0	0	1	0	0	0	16404	1696	59	5		5	TLR9	3	52222802	Missense_Mutation	SNP	T	C3N-00547_TP	802963	52222802	146072757	142	15603											
TMF1	0	.	GRCh38	chr3	69047440	69047440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaccttgtctaacacaGtctgtccttcatttattggt	8	15	6	12	0	3	0	1	0	2	0	4	0	4	0	3	1	2	0	3	1	2	6	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1265C>T	p.Thr422Ile	p.T422I	ENST00000398559	2/17	124	115	9	135	135	0	strelka-varscan-mutect	TMF1,missense_variant,p.Thr422Ile,ENST00000398559,NM_007114.2;MIR3136,downstream_gene_variant,,ENST00000583498,;CTD-2013N24.2,intron_variant,,ENST00000482368,;CTD-2013N24.2,intron_variant,,ENST00000595925,;CTD-2013N24.2,intron_variant,,ENST00000597950,;CTD-2013N24.2,intron_variant,,ENST00000598783,;CTD-2013N24.2,intron_variant,,ENST00000596732,;CTD-2013N24.2,intron_variant,,ENST00000601735,;CTD-2013N24.2,intron_variant,,ENST00000596274,;CTD-2013N24.2,intron_variant,,ENST00000596523,;CTD-2013N24.2,upstream_gene_variant,,ENST00000610844,;TMF1,missense_variant,p.Thr422Ile,ENST00000488010,;TMF1,upstream_gene_variant,,ENST00000477872,;	A	ENST00000398559	Transcript	missense_variant	1482/6849	1265/3282	422/1093	T/I	aCt/aTt		1		-1	TMF1	HGNC	HGNC:11870	protein_coding	YES	CCDS43105.1	ENSP00000381567	P82094	A0A024R370	UPI000013D9A7	NM_007114.2	tolerated_low_confidence(0.18)		2/17																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	69047440	69047440	G	A	1	0	0	0	0	1	0	0	0	16703	1029	36	3		3	TMF1	3	69047440	Missense_Mutation	SNP	G	C3N-00547_TP	16824638	69047440	129248119	143	15604											
PDZRN3	0	.	GRCh38	chr3	73383591	73383591	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgcatcatgaactcgCgccgccgccgctgctccttg	4	10	10	17	5	2	1	1	1	1	0	4	1	3	1	4	0	4	4	4	0	1	1			C3N-00547_TP	C3N-00547_NB	C	C																c.2975G>C	p.Arg992Pro	p.R992P	ENST00000263666	10/10	259	220	39	274	274	0	strelka-varscan-mutect	PDZRN3,missense_variant,p.Arg992Pro,ENST00000263666,NM_015009.2;PDZRN3,missense_variant,p.Arg649Pro,ENST00000462146,NM_001303141.1;PDZRN3,missense_variant,p.Arg709Pro,ENST00000479530,NM_001303142.1;PDZRN3,missense_variant,p.Arg649Pro,ENST00000466780,NM_001303140.1;PDZRN3,missense_variant,p.Arg308Pro,ENST00000494559,;PDZRN3,downstream_gene_variant,,ENST00000492909,NM_001303139.1;PDZRN3,downstream_gene_variant,,ENST00000466348,;PDZRN3,downstream_gene_variant,,ENST00000478209,;PDZRN3,downstream_gene_variant,,ENST00000484487,;	G	ENST00000263666	Transcript	missense_variant	3090/4248	2975/3201	992/1066	R/P	cGc/cCc	COSM4120117,COSM4120118,COSM4120119	1		-1	PDZRN3	HGNC	HGNC:17704	protein_coding	YES	CCDS33789.1	ENSP00000263666	Q9UPQ7		UPI00001C1DE6	NM_015009.2	deleterious(0)		10/10		hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												G	3	3	50	73383591	73383591	C	G	1	0	0	0	0	1	0	0	0	11797	768	27	4		4	PDZRN3	3	73383591	Missense_Mutation	SNP	C	C3N-00547_TP	4336151	73383591	124911968	144	15605											
CHMP2B	0	.	GRCh38	chr3	87245785	87245785	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttagccaaacaacttgtGcatctacggaaacagaagac	15	9	8	9	1	1	2	0	0	1	2	1	3	1	3	1	1	6	2	1	1	6	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.198G>T	p.=	p.V66V	ENST00000263780	3/6	277	226	51	250	250	0	strelka-varscan-mutect	CHMP2B,synonymous_variant,p.=,ENST00000263780,NM_014043.3;CHMP2B,synonymous_variant,p.=,ENST00000471660,NM_001244644.1;CHMP2B,synonymous_variant,p.=,ENST00000494980,;CHMP2B,synonymous_variant,p.=,ENST00000472024,;	T	ENST00000263780	Transcript	synonymous_variant	436/2557	198/642	66/213	V	gtG/gtT		1		1	CHMP2B	HGNC	HGNC:24537	protein_coding	YES	CCDS2918.1	ENSP00000263780	Q9UQN3	B2RE76	UPI00000701F8	NM_014043.3			3/6		hmmpanther:PTHR10476:SF9,hmmpanther:PTHR10476,Pfam_domain:PF03357																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	87245785	87245785	G	T	1	0	0	0	0	0	0	0	1	3114	1306	46	2		2	CHMP2B	3	87245785	Silent	SNP	G	C3N-00547_TP	13862194	87245785	111049774	145	15606											
EPHA3	0	.	GRCh38	chr3	89449304	89449304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagccagcgatgtatggaGttatgggattgttctctggg	7	13	15	6	1	2	0	1	0	1	0	3	3	2	2	1	3	2	3	1	3	2	4			C3N-00547_TP	C3N-00547_NB	G	G																c.2426G>A	p.Ser809Asn	p.S809N	ENST00000336596	14/17	185	158	27	166	166	0	strelka-varscan-mutect	EPHA3,missense_variant,p.Ser809Asn,ENST00000336596,NM_005233.5;EPHA3,missense_variant,p.Ser809Asn,ENST00000494014,;	A	ENST00000336596	Transcript	missense_variant	2651/5809	2426/2952	809/983	S/N	aGt/aAt	COSM3974599	1		1	EPHA3	HGNC	HGNC:3387	protein_coding	YES	CCDS2922.1	ENSP00000337451	P29320	A0A140VJJ0	UPI0000163BE4	NM_005233.5	deleterious(0.01)		14/17		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	50	89449304	89449304	G	A	1	0	0	0	0	1	0	0	0	5015	1029	36	3		3	EPHA3	3	89449304	Missense_Mutation	SNP	G	C3N-00547_TP	2203519	89449304	108846255	146	15607											
MTRNR2L12	0	.	GRCh38	chr3	96617263	96617263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagagacagctgaaccctCgtggagccattcatacaagt	13	8	10	10	1	1	2	1	1	0	1	2	4	1	3	2	1	4	2	2	1	4	3			C3N-00547_TP	C3N-00547_NB	C	C																c.11G>T	p.Arg4Leu	p.R4L	ENST00000600213	1/1	107	87	20	174	174	0	strelka-varscan-mutect	MTRNR2L12,missense_variant,p.Arg4Leu,ENST00000600213,NM_001190470.1;RPL18AP8,upstream_gene_variant,,ENST00000486071,;	A	ENST00000600213	Transcript	missense_variant	974/1049	11/75	4/24	R/L	cGa/cTa	COSM4819528	1		-1	MTRNR2L12	HGNC	HGNC:37169	protein_coding	YES		ENSP00000468991	P0DMP1		UPI000153CE77	NM_001190470.1			1/1		hmmpanther:PTHR33895,hmmpanther:PTHR33895:SF1,Pfam_domain:PF15040											1						MODERATE	1	SNV			1	1										PASS		rs1057256188	.												A	3	1	50	96617263	96617263	C	A	1	0	0	0	0	1	0	0	0	9950	884	31	1		1	MTRNR2L12	3	96617263	Missense_Mutation	SNP	C	C3N-00547_TP	7167959	96617263	101678296	147	15608											
FILIP1L	0	.	GRCh38	chr3	99924361	99924361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccactaaaagctgtccCaggattcgtctgtaagattc	10	12	8	11	1	2	1	0	0	2	1	5	2	3	2	2	1	2	2	2	1	3	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.474G>A	p.=	p.L158L	ENST00000354552	4/6	232	139	93	294	294	0	strelka-varscan-mutect	FILIP1L,synonymous_variant,p.=,ENST00000331335,NM_001042459.2;FILIP1L,synonymous_variant,p.=,ENST00000354552,NM_182909.3;FILIP1L,synonymous_variant,p.=,ENST00000398326,;CMSS1,intron_variant,,ENST00000421999,NM_032359.3;CMSS1,intron_variant,,ENST00000463526,;CMSS1,intron_variant,,ENST00000496116,;CMSS1,intron_variant,,ENST00000491299,;	T	ENST00000354552	Transcript	synonymous_variant	945/3970	474/3408	158/1135	L	ctG/ctA		1		-1	FILIP1L	HGNC	HGNC:24589	protein_coding	YES	CCDS43117.1	ENSP00000346560	Q4L180		UPI00001B24B2	NM_182909.3			4/6		Pfam_domain:PF09727																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	99924361	99924361	C	T	1	0	0	0	0	0	0	0	1	5758	581	21	3		3	FILIP1L	3	99924361	Silent	SNP	C	C3N-00547_TP	3307098	99924361	98371198	148	15609											
HCLS1	0	.	GRCh38	chr3	121633083	121633083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctccgggagagtctgcCtaatgggcagcaagggcact	9	8	13	11	1	1	1	0	0	1	1	2	2	2	1	3	3	3	3	3	3	3	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.992G>A	p.Arg331Lys	p.R331K	ENST00000314583	11/14	88	68	20	140	139	1	strelka-varscan-mutect	HCLS1,missense_variant,p.Arg331Lys,ENST00000314583,NM_005335.5;HCLS1,missense_variant,p.Arg294Lys,ENST00000428394,NM_001292041.1;FBXO40,downstream_gene_variant,,ENST00000338040,NM_016298.3;HCLS1,non_coding_transcript_exon_variant,,ENST00000473883,;HCLS1,3_prime_UTR_variant,,ENST00000495491,;HCLS1,downstream_gene_variant,,ENST00000464274,;	T	ENST00000314583	Transcript	missense_variant	1084/2000	992/1461	331/486	R/K	aGg/aAg		1		-1	HCLS1	HGNC	HGNC:4844	protein_coding	YES	CCDS3003.1	ENSP00000320176	P14317		UPI000013F884	NM_005335.5	tolerated(0.44)		11/14		hmmpanther:PTHR10829,hmmpanther:PTHR10829:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	121633083	121633083	C	T	1	0	0	0	0	1	0	0	0	6882	681	24	3		3	HCLS1	3	121633083	Missense_Mutation	SNP	C	C3N-00547_TP	21708722	121633083	76662476	149	15610											
CD86	0	.	GRCh38	chr3	122106397	122106397	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaactgtacgacgtttcCatcagcttgtctgtttcatt	9	15	7	10	2	3	1	2	0	1	1	4	2	4	1	1	0	3	4	1	0	2	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.600C>A	p.=	p.S200S	ENST00000330540	4/7	268	240	28	218	218	0	strelka-varscan-mutect	CD86,synonymous_variant,p.=,ENST00000330540,NM_175862.4;CD86,synonymous_variant,p.=,ENST00000264468,NM_176892.1;CD86,synonymous_variant,p.=,ENST00000469710,NM_001206925.1;CD86,synonymous_variant,p.=,ENST00000493101,NM_001206924.1;CD86,synonymous_variant,p.=,ENST00000393627,NM_006889.4;CD86,synonymous_variant,p.=,ENST00000478741,;CD86,downstream_gene_variant,,ENST00000482356,;CD86,downstream_gene_variant,,ENST00000483949,;	A	ENST00000330540	Transcript	synonymous_variant	716/2708	600/990	200/329	S	tcC/tcA		1		1	CD86	HGNC	HGNC:1705	protein_coding	YES	CCDS3009.1	ENSP00000332049	P42081		UPI00001AFC7C	NM_175862.4			4/7		hmmpanther:PTHR25466,hmmpanther:PTHR25466:SF2,Pfam_domain:PF13895																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	122106397	122106397	C	A	1	0	0	0	0	0	0	0	1	2747	581	21	2		2	CD86	3	122106397	Silent	SNP	C	C3N-00547_TP	473314	122106397	76189162	150	15611											
CASR	0	.	GRCh38	chr3	122285179	122285179	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcactgttacagaaaacgtAgtgaattcataaaatggaag	18	9	9	5	1	1	2	1	1	0	1	1	3	1	3	0	1	3	3	0	1	8	4	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.3255A>T	p.=	p.V1085V	ENST00000498619	7/7	366	172	194	429	429	0	strelka-varscan-mutect	CASR,synonymous_variant,p.=,ENST00000498619,NM_001178065.1;CASR,synonymous_variant,p.=,ENST00000490131,NM_000388.3;	T	ENST00000498619	Transcript	synonymous_variant	3693/5011	3255/3267	1085/1088	V	gtA/gtT		1		1	CASR	HGNC	HGNC:1514	protein_coding	YES	CCDS54632.1	ENSP00000420194		E7ENE0	UPI000020A065	NM_001178065.1			7/7																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	122285179	122285179	A	T	1	0	0	0	0	0	0	0	1	2381	407	15	4		4	CASR	3	122285179	Silent	SNP	A	C3N-00547_TP	178782	122285179	76010380	151	15612											
ITGB5	0	.	GRCh38	chr3	124841440	124841440	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccctcaggggcatctcggttCcgggacaccctctgtttccg	4	10	11	16	3	3	0	1	0	2	0	6	1	5	1	4	4	0	3	4	4	0	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.723G>C	p.=	p.R241R	ENST00000296181	5/15	126	102	24	183	183	0	strelka-mutect	ITGB5,synonymous_variant,p.=,ENST00000296181,NM_002213.4;ITGB5,synonymous_variant,p.=,ENST00000488466,;ITGB5,synonymous_variant,p.=,ENST00000608657,;ITGB5,synonymous_variant,p.=,ENST00000496703,;ITGB5,3_prime_UTR_variant,,ENST00000465464,;	G	ENST00000296181	Transcript	synonymous_variant	1020/4372	723/2400	241/799	R	cgG/cgC		1		-1	ITGB5	HGNC	HGNC:6160	protein_coding	YES	CCDS3030.1	ENSP00000296181	P18084	L7RT22	UPI000012DA10	NM_002213.4			5/15		Gene3D:3.40.50.410,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF26,SMART_domains:SM00187,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	50	124841440	124841440	C	G	1	0	0	0	0	0	0	0	1	7804	842	30	4		4	ITGB5	3	124841440	Silent	SNP	C	C3N-00547_TP	2556261	124841440	73454119	152	15613											
UROC1	0	.	GRCh38	chr3	126504000	126504000	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcttggagctgtacctgagCctctggatgcagcggtccaa	8	9	13	11	1	1	1	0	1	1	0	2	3	2	3	3	3	6	4	3	3	2	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.897G>T	p.Arg299Ser	p.R299S	ENST00000383579	9/21	577	329	248	464	463	1	strelka-varscan-mutect	UROC1,missense_variant,p.Arg299Ser,ENST00000290868,NM_144639.2;UROC1,missense_variant,p.Arg299Ser,ENST00000383579,NM_001165974.1;	A	ENST00000383579	Transcript	missense_variant	931/2735	897/2211	299/736	R/S	agG/agT		1		-1	UROC1	HGNC	HGNC:26444	protein_coding	YES	CCDS54636.1	ENSP00000373073	Q96N76		UPI0000480109	NM_001165974.1	deleterious(0.01)		9/21		HAMAP:MF_00577,Pfam_domain:PF01175,hmmpanther:PTHR12216,hmmpanther:PTHR12216:SF3,Low_complexity_(Seg):seg,Superfamily_domains:SSF111326																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	126504000	126504000	C	A	1	0	0	0	0	1	0	0	0	17560	753	26	2		2	UROC1	3	126504000	Missense_Mutation	SNP	C	C3N-00547_TP	1662560	126504000	71791559	153	15614											
IL20RB	0	.	GRCh38	chr3	136991964	136991964	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcaaaatggtgaggagtggGggtattccagtgcacctaga	11	9	15	6	0	1	2	1	1	0	1	2	3	2	3	2	4	1	2	2	4	4	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.558G>T	p.=	p.G186G	ENST00000329582	5/7	140	113	27	102	102	0	strelka-varscan-mutect	IL20RB,synonymous_variant,p.=,ENST00000329582,NM_144717.3;IL20RB,downstream_gene_variant,,ENST00000484501,;IL20RB,3_prime_UTR_variant,,ENST00000475972,;IL20RB,3_prime_UTR_variant,,ENST00000491483,;IL20RB,intron_variant,,ENST00000469964,;	T	ENST00000329582	Transcript	synonymous_variant	807/2047	558/936	186/311	G	ggG/ggT		1		1	IL20RB	HGNC	HGNC:6004	protein_coding	YES	CCDS3093.1	ENSP00000328133	Q6UXL0		UPI000003E7F6	NM_144717.3			5/7		hmmpanther:PTHR20859:SF48,hmmpanther:PTHR20859,Pfam_domain:PF09294,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		rs1387323876	.												T	2	4	50	136991964	136991964	G	T	1	0	0	0	0	0	0	0	1	7572	1219	43	2		2	IL20RB	3	136991964	Silent	SNP	G	C3N-00547_TP	10487964	136991964	61303595	154	15615											
PRR23B	0	.	GRCh38	chr3	139020024	139020024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaattccaggtcaaagatgGggcgtggagaacgtctctct	10	9	14	8	2	3	2	1	0	2	2	5	4	4	3	1	5	1	0	1	5	3	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.638C>A	p.Pro213His	p.P213H	ENST00000329447	1/1	155	83	72	141	141	0	strelka-varscan-mutect	PRR23B,missense_variant,p.Pro213His,ENST00000329447,NM_001013650.2;MRPS22,intron_variant,,ENST00000495075,;	T	ENST00000329447	Transcript	missense_variant	903/1896	638/798	213/265	P/H	cCc/cAc		1		-1	PRR23B	HGNC	HGNC:33764	protein_coding	YES	CCDS33868.1	ENSP00000328768	Q6ZRT6		UPI00001C0F1A	NM_001013650.2	tolerated(0.79)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR31813:SF7,hmmpanther:PTHR31813,Pfam_domain:PF10630																	MODERATE		SNV				1										PASS		.	.												T	3	4	50	139020024	139020024	G	T	1	0	0	0	0	1	0	0	0	12730	1232	43	2		2	PRR23B	3	139020024	Missense_Mutation	SNP	G	C3N-00547_TP	2028060	139020024	59275535	155	15616											
P2RY14	0	.	GRCh38	chr3	151214251	151214251	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacagcacaggaatgatctgCtgagtgatcaggaggttctg	11	10	13	7	0	3	3	1	3	2	0	3	5	3	5	0	3	3	3	0	3	2	2			C3N-00547_TP	C3N-00547_NB	C	C																c.66G>T	p.Gln22His	p.Q22H	ENST00000309170	3/3	280	111	169	223	223	0	strelka-varscan-mutect	P2RY14,missense_variant,p.Gln22His,ENST00000309170,NM_014879.3;P2RY14,missense_variant,p.Gln22His,ENST00000424796,NM_001081455.1;P2RY14,missense_variant,p.Gln22His,ENST00000494668,;MED12L,intron_variant,,ENST00000474524,NM_053002.5;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000480026,;	A	ENST00000309170	Transcript	missense_variant	379/2513	66/1017	22/338	Q/H	caG/caT	COSM1039936	1		-1	P2RY14	HGNC	HGNC:16442	protein_coding	YES	CCDS3156.1	ENSP00000308361	Q15391	A5JUU3	UPI0000050418	NM_014879.3	tolerated(0.27)		3/3		hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF3,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01655											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	50	151214251	151214251	C	A	1	0	0	0	0	1	0	0	0	11424	796	28	2		2	P2RY14	3	151214251	Missense_Mutation	SNP	C	C3N-00547_TP	12194227	151214251	47081308	156	15617											
SLITRK3	0	.	GRCh38	chr3	165189159	165189159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggattctcattgaggtCtatctggacaatggcattca	11	12	9	9	0	4	1	2	1	3	0	5	3	4	3	1	4	0	1	1	4	3	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1672G>T	p.Asp558Tyr	p.D558Y	ENST00000475390	2/2	347	178	169	241	240	1	strelka-varscan-mutect	SLITRK3,missense_variant,p.Asp558Tyr,ENST00000475390,NM_001318811.1,NM_001318810.1;SLITRK3,missense_variant,p.Asp558Tyr,ENST00000241274,NM_014926.2;SLITRK3,downstream_gene_variant,,ENST00000497724,;	A	ENST00000475390	Transcript	missense_variant	2116/4555	1672/2934	558/977	D/Y	Gac/Tac		1		-1	SLITRK3	HGNC	HGNC:23501	protein_coding	YES	CCDS3197.1	ENSP00000420091	O94933		UPI000004F259	NM_001318811.1,NM_001318810.1	deleterious(0)		2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF14,Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	165189159	165189159	C	A	1	0	0	0	0	1	0	0	0	15035	913	32	2		2	SLITRK3	3	165189159	Missense_Mutation	SNP	C	C3N-00547_TP	13974908	165189159	33106400	157	15618											
NLGN1	0	.	GRCh38	chr3	174280547	174280547	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacccaaccgttttgaagaAgtagcatggaccagatattc	15	9	8	9	1	0	3	0	1	0	2	1	4	0	4	3	1	3	3	3	1	6	5	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1716A>T	p.Glu572Asp	p.E572D	ENST00000457714	7/7	183	75	108	113	113	0	strelka-varscan-mutect	NLGN1,missense_variant,p.Glu572Asp,ENST00000457714,NM_014932.3;NLGN1,missense_variant,p.Glu572Asp,ENST00000361589,;NLGN1,missense_variant,p.Glu357Asp,ENST00000401917,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;NLGN1,downstream_gene_variant,,ENST00000469564,;	T	ENST00000457714	Transcript	missense_variant	2145/8242	1716/2472	572/823	E/D	gaA/gaT		1		1	NLGN1	HGNC	HGNC:14291	protein_coding	YES	CCDS3222.1	ENSP00000392500	Q8N2Q7		UPI0000072F54	NM_014932.3	tolerated(0.13)		7/7		hmmpanther:PTHR11559:SF52,hmmpanther:PTHR11559,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474,Prints_domain:PR01090																	MODERATE	1	SNV	1			1										PASS		rs1025946144	.												T	3	4	50	174280547	174280547	A	T	1	0	0	0	0	1	0	0	0	10498	69	3	4		4	NLGN1	3	174280547	Missense_Mutation	SNP	A	C3N-00547_TP	9091388	174280547	24015012	158	15619											
EIF2B5	0	.	GRCh38	chr3	184143517	184143517	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggagttccccctgcaacaGatggattccccgcttgactc	7	10	9	15	1	0	2	0	1	0	1	3	4	2	4	4	2	2	3	4	2	1	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1821G>C	p.Gln607His	p.Q607H	ENST00000273783	13/16	516	481	35	628	628	0	strelka-varscan-mutect	EIF2B5,missense_variant,p.Gln607His,ENST00000273783,NM_003907.2;EIF2B5,downstream_gene_variant,,ENST00000492773,;EIF2B5,downstream_gene_variant,,ENST00000479833,;EIF2B5,non_coding_transcript_exon_variant,,ENST00000481054,;EIF2B5,non_coding_transcript_exon_variant,,ENST00000491144,;EIF2B5,non_coding_transcript_exon_variant,,ENST00000465218,;EIF2B5,non_coding_transcript_exon_variant,,ENST00000484154,;EIF2B5,downstream_gene_variant,,ENST00000491008,;EIF2B5,downstream_gene_variant,,ENST00000468748,;EIF2B5,downstream_gene_variant,,ENST00000432982,;EIF2B5,downstream_gene_variant,,ENST00000493740,;EIF2B5,upstream_gene_variant,,ENST00000492226,;EIF2B5,downstream_gene_variant,,ENST00000479250,;	C	ENST00000273783	Transcript	missense_variant	1943/2655	1821/2166	607/721	Q/H	caG/caC		1		1	EIF2B5	HGNC	HGNC:3261	protein_coding	YES	CCDS3252.1	ENSP00000273783	Q13144		UPI000013D9CF	NM_003907.2	deleterious(0.01)		13/16		PROSITE_profiles:PS51363,Gene3D:1.25.40.180,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	184143517	184143517	G	C	1	0	0	0	0	1	0	0	0	4840	933	33	4		4	EIF2B5	3	184143517	Missense_Mutation	SNP	G	C3N-00547_TP	9862970	184143517	14152042	159	15620											
MASP1	0	.	GRCh38	chr3	187256739	187256739	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaaactgcaggttgacCatgaaaccctcctccagctc	10	9	6	16	0	1	2	1	2	0	0	5	2	4	2	5	1	4	3	5	1	2	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.669G>T	p.Met223Ile	p.M223I	ENST00000296280	5/11	319	257	62	374	374	0	strelka-varscan-mutect	MASP1,missense_variant,p.Met223Ile,ENST00000337774,NM_001879.5;MASP1,missense_variant,p.Met223Ile,ENST00000296280,NM_139125.3;MASP1,missense_variant,p.Met110Ile,ENST00000392472,;MASP1,missense_variant,p.Met223Ile,ENST00000169293,NM_001031849.2;MASP1,missense_variant,p.Met197Ile,ENST00000392470,;MASP1,downstream_gene_variant,,ENST00000392475,;MASP1,intron_variant,,ENST00000495249,;MASP1,downstream_gene_variant,,ENST00000490558,;MASP1,downstream_gene_variant,,ENST00000465015,;MASP1,non_coding_transcript_exon_variant,,ENST00000460839,;MASP1,upstream_gene_variant,,ENST00000483719,;	A	ENST00000296280	Transcript	missense_variant	895/4015	669/2187	223/728	M/I	atG/atT		1		-1	MASP1	HGNC	HGNC:6901	protein_coding	YES	CCDS33908.1	ENSP00000296280	P48740		UPI000007256E	NM_139125.3	tolerated(0.45)		5/11		Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS01180,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	187256739	187256739	C	A	1	0	0	0	0	1	0	0	0	9248	594	21	2		2	MASP1	3	187256739	Missense_Mutation	SNP	C	C3N-00547_TP	3113222	187256739	11038820	160	15621											
UBXN7	0	.	GRCh38	chr3	196393597	196393597	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccatcaaaaattgaacgTgcaggccgtcgtcttttagg	13	10	9	9	3	2	1	1	1	1	0	3	1	2	1	2	2	3	1	2	2	5	3	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.312A>C	p.=	p.A104A	ENST00000296328	4/11	170	136	34	176	175	1	strelka-varscan-mutect	UBXN7,synonymous_variant,p.=,ENST00000296328,NM_015562.1;UBXN7,synonymous_variant,p.=,ENST00000413584,;UBXN7,intron_variant,,ENST00000428095,;UBXN7,intron_variant,,ENST00000381887,;RNU6-1279P,downstream_gene_variant,,ENST00000383917,;RN7SL434P,downstream_gene_variant,,ENST00000495872,;UBXN7,missense_variant,p.His55Pro,ENST00000429160,;	G	ENST00000296328	Transcript	synonymous_variant	387/10568	312/1470	104/489	A	gcA/gcC		1		-1	UBXN7	HGNC	HGNC:29119	protein_coding	YES	CCDS43191.1	ENSP00000296328	O94888		UPI00001C1DEF	NM_015562.1			4/11		hmmpanther:PTHR23322,hmmpanther:PTHR23322:SF6,PIRSF_domain:PIRSF037991																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	50	196393597	196393597	T	G	1	0	0	0	0	0	0	0	1	17442	1683	59	5		5	UBXN7	3	196393597	Silent	SNP	T	C3N-00547_TP	9136858	196393597	1901962	161	15622											
IDUA	0	.	GRCh38	chr4	1001720	1001720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcggagggtctgcgcGccgccagccccgccctgcgg	2	5	15	19	6	1	0	0	0	1	0	2	1	1	1	6	3	4	1	6	3	0	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.631G>T	p.Ala211Ser	p.A211S	ENST00000247933	6/14	241	182	59	222	222	0	strelka-varscan-mutect	IDUA,missense_variant,p.Ala211Ser,ENST00000247933,NM_000203.4;IDUA,missense_variant,p.Ala79Ser,ENST00000514224,;IDUA,missense_variant,p.Ala142Ser,ENST00000509948,;IDUA,missense_variant,p.Ala164Ser,ENST00000502910,;IDUA,missense_variant,p.Ala150Ser,ENST00000514192,;IDUA,downstream_gene_variant,,ENST00000504568,;IDUA,non_coding_transcript_exon_variant,,ENST00000514698,;IDUA,downstream_gene_variant,,ENST00000506561,;IDUA,upstream_gene_variant,,ENST00000502829,;IDUA,downstream_gene_variant,,ENST00000508168,;IDUA,upstream_gene_variant,,ENST00000514417,;	T	ENST00000247933	Transcript	missense_variant	719/2163	631/1962	211/653	A/S	Gcc/Tcc		1		1	IDUA	HGNC	HGNC:5391	protein_coding	YES	CCDS3343.1	ENSP00000247933	P35475		UPI00004571D0	NM_000203.4	tolerated(0.38)		6/14		Gene3D:3.20.20.80,Pfam_domain:PF01229,hmmpanther:PTHR12631,hmmpanther:PTHR12631:SF8,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		rs760582777	.												T	3	4	50	1001720	1001720	G	T	1	0	0	0	0	1	0	0	0	7405	1087	38	1		1	IDUA	4	1001720	Missense_Mutation	SNP	G	C3N-00547_TP		1001720	189212835	162	15623											
FAM53A	0	.	GRCh38	chr4	1641423	1641423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcactggtcaccgactccCtagaggcccacaggttgggg	8	7	12	14	1	2	1	2	0	0	1	3	2	3	1	3	5	0	1	3	5	1	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1067G>T	p.Arg356Met	p.R356M	ENST00000308132	5/5	82	58	24	146	145	1	strelka-varscan-mutect	FAM53A,missense_variant,p.Arg356Met,ENST00000308132,NM_001174070.2;FAM53A,missense_variant,p.Arg356Met,ENST00000461064,;FAM53A,missense_variant,p.Arg356Met,ENST00000472884,NM_001013622.3;FAM53A,3_prime_UTR_variant,,ENST00000489363,NM_001297435.1;FAM53A,intron_variant,,ENST00000489029,;FAM53A,downstream_gene_variant,,ENST00000467215,;	A	ENST00000308132	Transcript	missense_variant	1260/2802	1067/1197	356/398	R/M	aGg/aTg		1		-1	FAM53A	HGNC	HGNC:31860	protein_coding	YES	CCDS33939.1	ENSP00000310057	Q6NSI3		UPI000023730C	NM_001174070.2	deleterious(0.02)		5/5		hmmpanther:PTHR28567,hmmpanther:PTHR28567:SF2																	MODERATE	1	SNV	2			1										PASS		rs1312116149	.												A	3	1	50	1641423	1641423	C	A	1	0	0	0	0	1	0	0	0	5455	681	24	2		2	FAM53A	4	1641423	Missense_Mutation	SNP	C	C3N-00547_TP	639703	1641423	188573132	163	15624											
CRMP1	0	.	GRCh38	chr4	5828513	5828513	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcctgattttgacgcgctgGtacaggtgctccgggaacgc	6	11	13	11	4	0	2	0	2	0	0	2	3	2	3	2	3	3	3	2	3	2	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1779C>A	p.Tyr593Ter	p.Y593*	ENST00000324989	12/14	128	89	39	130	130	0	strelka-varscan-mutect	CRMP1,stop_gained,p.Tyr593Ter,ENST00000324989,NM_001288662.1,NM_001014809.2;CRMP1,stop_gained,p.Tyr479Ter,ENST00000397890,NM_001313.4;CRMP1,stop_gained,p.Tyr477Ter,ENST00000512574,NM_001288661.1;CRMP1,non_coding_transcript_exon_variant,,ENST00000511535,;CRMP1,non_coding_transcript_exon_variant,,ENST00000506216,;CRMP1,upstream_gene_variant,,ENST00000513911,;	T	ENST00000324989	Transcript	stop_gained	1868/3146	1779/2061	593/686	Y/*	taC/taA		1		-1	CRMP1	HGNC	HGNC:2365	protein_coding	YES	CCDS33950.1	ENSP00000321606	Q14194	X5DNI1	UPI000020BA92	NM_001288662.1,NM_001014809.2			12/14		hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF54,Gene3D:2.30.40.10																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	50	5828513	5828513	G	T	1	0	0	0	0	0	1	0	0	3691	1256	44	2		2	CRMP1	4	5828513	Nonsense_Mutation	SNP	G	C3N-00547_TP	4187090	5828513	184386042	164	15625											
PSAPL1	0	.	GRCh38	chr4	7434533	7434533	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatgctcaggatggccGaactgtgggcatccaccatc	9	7	13	12	1	1	0	1	0	0	0	3	3	2	2	3	4	3	3	3	4	1	0	rs753546282		C3N-00547_TP	C3N-00547_NB	G	G																c.347C>A	p.Ser116Ter	p.S116*	ENST00000319098	1/1	143	105	38	151	151	0	strelka-varscan-mutect	PSAPL1,stop_gained,p.Ser116Ter,ENST00000319098,NM_001085382.1;SORCS2,intron_variant,,ENST00000507866,NM_020777.2;SORCS2,intron_variant,,ENST00000329016,;SORCS2,intron_variant,,ENST00000511199,;	T	ENST00000319098	Transcript	stop_gained	441/4680	347/1566	116/521	S/*	tCg/tAg	rs753546282	1		-1	PSAPL1	HGNC	HGNC:33131	protein_coding	YES	CCDS47009.1	ENSP00000317445	Q6NUJ1		UPI000003F80E	NM_001085382.1			1/1		PROSITE_profiles:PS50015,hmmpanther:PTHR11480:SF39,hmmpanther:PTHR11480,PIRSF_domain:PIRSF002431,Gene3D:1.10.225.10,SMART_domains:SM00741,Superfamily_domains:SSF47862																	HIGH		SNV				1										PASS		rs753546282	.												T	4	4	50	7434533	7434533	G	T	1	0	0	0	0	0	1	0	0	12794	1059	37	1		1	PSAPL1	4	7434533	Nonsense_Mutation	SNP	G	C3N-00547_TP	1606020	7434533	182780022	165	15626											
GPR78	0	.	GRCh38	chr4	8587071	8587071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggctggcggagctcgtgcCcttcgtcaccgtgaacgccc	5	7	13	16	5	1	1	1	1	0	0	3	2	1	2	3	3	3	2	3	3	1	1	rs778580489		C3N-00547_TP	C3N-00547_NB	C	C																c.800C>A	p.Pro267His	p.P267H	ENST00000382487	3/3	130	82	48	124	124	0	strelka-varscan-mutect	GPR78,missense_variant,p.Pro267His,ENST00000382487,NM_080819.4;GPR78,non_coding_transcript_exon_variant,,ENST00000509216,;GPR78,non_coding_transcript_exon_variant,,ENST00000504255,;GPR78,intron_variant,,ENST00000514302,;	A	ENST00000382487	Transcript	missense_variant	1217/1694	800/1092	267/363	P/H	cCc/cAc	rs778580489,COSM4625358	1		1	GPR78	HGNC	HGNC:4528	protein_coding	YES	CCDS3403.1	ENSP00000371927	Q96P69	B2R7M4	UPI0000037A5F	NM_080819.4	deleterious(0.02)		3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF7,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs778580489	.												A	3	1	50	8587071	8587071	C	A	1	0	0	0	0	1	0	0	0	6592	623	22	2		2	GPR78	4	8587071	Missense_Mutation	SNP	C	C3N-00547_TP	1152538	8587071	181627484	166	15627											
FAM184B	0	.	GRCh38	chr4	17709601	17709601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcccgcagcgcctccatgCtggcctcagcctcatcctgg	4	9	9	19	2	2	0	2	0	0	0	5	0	5	0	6	2	3	2	6	2	0	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.185G>T	p.Ser62Ile	p.S62I	ENST00000265018	2/18	50	31	19	55	55	0	strelka-varscan-mutect	FAM184B,missense_variant,p.Ser62Ile,ENST00000265018,NM_015688.1;	A	ENST00000265018	Transcript	missense_variant	398/6622	185/3183	62/1060	S/I	aGc/aTc		1		-1	FAM184B	HGNC	HGNC:29235	protein_coding	YES	CCDS47033.1	ENSP00000265018	Q9ULE4		UPI000020BD7C	NM_015688.1	deleterious(0)		2/18		hmmpanther:PTHR18870:SF8,hmmpanther:PTHR18870,Pfam_domain:PF15665,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	17709601	17709601	C	A	1	0	0	0	0	1	0	0	0	5359	797	28	2		2	FAM184B	4	17709601	Missense_Mutation	SNP	C	C3N-00547_TP	9122530	17709601	172504954	167	15628											
STIM2	0	.	GRCh38	chr4	27022534	27022534	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggaagtgccagacacAgcttcagaatgtgactcctt	11	10	10	10	0	2	3	2	1	0	2	3	4	3	4	2	1	2	1	2	1	2	3	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1803A>T	p.=	p.T601T	ENST00000465503	13/13	32	23	9	48	48	0	strelka-varscan-mutect	STIM2,missense_variant,p.Gln341Leu,ENST00000473519,;STIM2,synonymous_variant,p.=,ENST00000467087,NM_020860.3;STIM2,synonymous_variant,p.=,ENST00000465503,NM_001169118.1;STIM2,3_prime_UTR_variant,,ENST00000467011,NM_001169117.1;STIM2,downstream_gene_variant,,ENST00000477474,;STIM2,non_coding_transcript_exon_variant,,ENST00000504511,;	T	ENST00000465503	Transcript	synonymous_variant	2181/3613	1803/2265	601/754	T	acA/acT		1		1	STIM2	HGNC	HGNC:19205	protein_coding	YES	CCDS54751.1	ENSP00000417569		H0Y860	UPI0001B79443	NM_001169118.1			13/13		hmmpanther:PTHR15136,hmmpanther:PTHR15136:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	27022534	27022534	A	T	1	0	0	0	0	0	0	0	1	15661	175	7	4		4	STIM2	4	27022534	Silent	SNP	A	C3N-00547_TP	9312933	27022534	163192021	168	15629											
STIM2	0	.	GRCh38	chr4	27022751	27022751	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaagagtatgatcttcagtCctgcaagcaaagtgtacaat	14	11	8	8	0	2	2	1	1	1	1	3	2	3	2	1	0	3	4	1	0	6	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2020C>A	p.Pro674Thr	p.P674T	ENST00000465503	13/13	282	220	62	291	291	0	strelka-varscan-mutect	STIM2,missense_variant,p.Pro666Thr,ENST00000467087,NM_020860.3;STIM2,missense_variant,p.Pro674Thr,ENST00000465503,NM_001169118.1;STIM2,3_prime_UTR_variant,,ENST00000467011,NM_001169117.1;STIM2,3_prime_UTR_variant,,ENST00000473519,;STIM2,downstream_gene_variant,,ENST00000477474,;STIM2,downstream_gene_variant,,ENST00000504511,;	A	ENST00000465503	Transcript	missense_variant	2398/3613	2020/2265	674/754	P/T	Cct/Act		1		1	STIM2	HGNC	HGNC:19205	protein_coding	YES	CCDS54751.1	ENSP00000417569		H0Y860	UPI0001B79443	NM_001169118.1	deleterious_low_confidence(0.04)		13/13		hmmpanther:PTHR15136,hmmpanther:PTHR15136:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	27022751	27022751	C	A	1	0	0	0	0	1	0	0	0	15661	855	30	2		2	STIM2	4	27022751	Missense_Mutation	SNP	C	C3N-00547_TP	217	27022751	163191804	169	15630											
PCDH7	0	.	GRCh38	chr4	30722688	30722688	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatccgcaagattgggcgCatccccctcaaggacggggt	10	6	13	12	3	1	1	1	0	0	1	3	3	3	2	3	4	0	2	3	4	3	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1266C>A	p.=	p.R422R	ENST00000543491	1/1	146	116	30	189	187	2	strelka-varscan-mutect	PCDH7,synonymous_variant,p.=,ENST00000511884,NM_032457.3,NM_001173523.1;PCDH7,synonymous_variant,p.=,ENST00000361762,NM_002589.2;PCDH7,synonymous_variant,p.=,ENST00000543491,NM_032456.2;PCDH7,upstream_gene_variant,,ENST00000621961,;PCDH7,upstream_gene_variant,,ENST00000509759,;PCDH7,upstream_gene_variant,,ENST00000507864,;	A	ENST00000543491	Transcript	synonymous_variant	1836/4457	1266/3219	422/1072	R	cgC/cgA		1		1	PCDH7	HGNC	HGNC:8659	protein_coding	YES	CCDS75116.1	ENSP00000441802	O60245		UPI00001615DB	NM_032456.2			1/1		hmmpanther:PTHR24027:SF321,hmmpanther:PTHR24027,Superfamily_domains:SSF49313																	LOW	1	SNV				1										PASS		.	.												A	2	1	50	30722688	30722688	C	A	1	0	0	0	0	0	0	0	1	11603	697	25	2		2	PCDH7	4	30722688	Silent	SNP	C	C3N-00547_TP	3699937	30722688	159491867	170	15631											
ARAP2	0	.	GRCh38	chr4	36068086	36068086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatggccttttggttgccCaagtggggcttcaggctctg	4	15	13	9	0	2	0	1	0	1	0	2	0	2	0	2	5	1	3	2	5	2	6	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.4936G>T	p.Gly1646Trp	p.G1646W	ENST00000303965	33/33	190	145	45	260	260	0	strelka-varscan-mutect	ARAP2,missense_variant,p.Gly1646Trp,ENST00000303965,NM_015230.3;ARAP2,downstream_gene_variant,,ENST00000618163,;ARAP2,intron_variant,,ENST00000503225,;RP11-640B6.1,upstream_gene_variant,,ENST00000514630,;	A	ENST00000303965	Transcript	missense_variant	5426/7514	4936/5115	1646/1704	G/W	Ggg/Tgg		1		-1	ARAP2	HGNC	HGNC:16924	protein_coding	YES	CCDS3441.1	ENSP00000302895	Q8WZ64		UPI000013E917	NM_015230.3	tolerated(0.07)		33/33																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	36068086	36068086	C	A	1	0	0	0	0	1	0	0	0	961	594	21	2		2	ARAP2	4	36068086	Missense_Mutation	SNP	C	C3N-00547_TP	5345398	36068086	154146469	171	15632											
TMEM156	0	.	GRCh38	chr4	38998884	38998884	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagattgcaaacacacttcCagacatgatagctccaatgt	14	11	6	10	0	0	3	0	1	0	2	2	3	2	3	2	0	3	2	2	0	4	4	rs758892519		C3N-00547_TP	C3N-00547_NB	C	C																c.114G>T	p.=	p.L38L	ENST00000381938	2/7	123	92	31	145	145	0	strelka-varscan-mutect	TMEM156,synonymous_variant,p.=,ENST00000381938,NM_024943.2,NM_001303228.1;TMEM156,synonymous_variant,p.=,ENST00000344606,;TMEM156,non_coding_transcript_exon_variant,,ENST00000372489,;	A	ENST00000381938	Transcript	synonymous_variant	222/1935	114/891	38/296	L	ctG/ctT	rs758892519	1		-1	TMEM156	HGNC	HGNC:26260	protein_coding	YES	CCDS3448.1	ENSP00000371364	Q8N614	A0A024R9T9	UPI000006D7FE	NM_024943.2,NM_001303228.1			2/7		hmmpanther:PTHR14788,hmmpanther:PTHR14788:SF5																	LOW	1	SNV	1			1										PASS		rs758892519	.												A	2	1	50	38998884	38998884	C	A	1	0	0	0	0	0	0	0	1	16516	581	21	2		2	TMEM156	4	38998884	Silent	SNP	C	C3N-00547_TP	2930798	38998884	151215671	172	15633											
GABRG1	0	.	GRCh38	chr4	46064442	46064442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtgttttgttacttacaGcttgaaaattccagtggaca	12	14	8	7	0	0	1	0	1	0	0	1	2	1	2	1	1	3	3	1	1	5	6	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.624C>A	p.Ser208Arg	p.S208R	ENST00000295452	5/9	112	84	28	188	188	0	strelka-varscan-mutect	GABRG1,missense_variant,p.Ser208Arg,ENST00000295452,NM_173536.3;	T	ENST00000295452	Transcript	missense_variant,splice_region_variant	792/6785	624/1398	208/465	S/R	agC/agA		1		-1	GABRG1	HGNC	HGNC:4086	protein_coding	YES	CCDS3470.1	ENSP00000295452	Q8N1C3		UPI0000047AE2	NM_173536.3	deleterious(0)		5/9		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	46064442	46064442	G	T	1	0	0	0	0	1	0	0	0	6042	985	34	2		2	GABRG1	4	46064442	Missense_Mutation	SNP	G	C3N-00547_TP	7065558	46064442	144150113	173	15634											
FRYL	0	.	GRCh38	chr4	48590659	48590659	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatttcaattaaactaacCtatgacttttgcttcttcat	12	19	2	8	0	3	1	2	1	1	0	3	1	3	1	1	0	3	1	1	0	6	9	rs777697473		C3N-00547_TP	C3N-00547_NB	C	C																c.1507G>T	p.Gly503Ter	p.G503*	ENST00000358350	17/64	45	35	10	71	71	0	strelka-varscan-mutect	FRYL,stop_gained,p.Gly503Ter,ENST00000358350,NM_015030.1;FRYL,stop_gained,p.Gly503Ter,ENST00000503238,;FRYL,stop_gained,p.Gly503Ter,ENST00000507711,;FRYL,stop_gained,p.Gly209Ter,ENST00000506685,;	A	ENST00000358350	Transcript	stop_gained,splice_region_variant	2112/11706	1507/9042	503/3013	G/*	Gga/Tga	rs777697473	1		-1	FRYL	HGNC	HGNC:29127	protein_coding	YES	CCDS43227.1	ENSP00000351113	O94915		UPI0000EBC149	NM_015030.1			17/64		Pfam_domain:PF14222,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF9																	HIGH	1	SNV	5			1										PASS		rs777697473	.												A	4	1	50	48590659	48590659	C	A	1	0	0	0	0	0	1	0	0	5936	695	24	2		2	FRYL	4	48590659	Nonsense_Mutation	SNP	C	C3N-00547_TP	2526217	48590659	141623896	174	15635											
LRRC66	0	.	GRCh38	chr4	51994565	51994565	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcataagtgaacatgccCggaaactcatcccctaaggg	14	8	8	11	1	2	1	2	1	0	0	3	2	3	2	3	2	3	0	3	2	5	3	rs137931708		C3N-00547_TP	C3N-00547_NB	C	C																c.2457G>T	p.=	p.P819P	ENST00000343457	4/4	166	149	17	195	195	0	strelka-varscan-mutect	LRRC66,synonymous_variant,p.=,ENST00000343457,NM_001024611.1;	A	ENST00000343457	Transcript	synonymous_variant	2464/3327	2457/2643	819/880	P	ccG/ccT	rs137931708	1		-1	LRRC66	HGNC	HGNC:34299	protein_coding	YES	CCDS43229.1	ENSP00000341944	Q68CR7		UPI0000425C5B	NM_001024611.1			4/4																			LOW	1	SNV	1			1										PASS		rs137931708	.												A	2	1	50	51994565	51994565	C	A	1	0	0	0	0	0	0	0	1	8914	639	23	1		1	LRRC66	4	51994565	Silent	SNP	C	C3N-00547_TP	3403906	51994565	138219990	175	15636											
PDGFRA	0	.	GRCh38	chr4	54273548	54273548	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctagatgtaataatgAaacttcctggactattttgg	11	16	7	7	0	2	2	0	1	2	1	4	3	3	3	1	2	1	1	1	2	5	7	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1376A>G	p.Glu459Gly	p.E459G	ENST00000257290	10/23	251	172	79	352	352	0	strelka-varscan-mutect	PDGFRA,missense_variant,p.Glu459Gly,ENST00000257290,NM_006206.4;RP11-231C18.3,intron_variant,,ENST00000507166,;PDGFRA,missense_variant,p.Glu459Gly,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;PDGFRA,upstream_gene_variant,,ENST00000507536,;PDGFRA,upstream_gene_variant,,ENST00000461294,;	G	ENST00000257290	Transcript	missense_variant	1707/6576	1376/3270	459/1089	E/G	gAa/gGa		1		1	PDGFRA	HGNC	HGNC:8803	protein_coding	YES	CCDS3495.1	ENSP00000257290	P16234		UPI0000131793	NM_006206.4	tolerated(0.13)		10/23		hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	54273548	54273548	A	G	1	0	0	0	0	1	0	0	0	11749	246	9	5		5	PDGFRA	4	54273548	Missense_Mutation	SNP	A	C3N-00547_TP	2278983	54273548	135941007	176	15637											
ADGRL3	0	.	GRCh38	chr4	61732775	61732775	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctttgtcctggactacTaaaaggagtataccagagtg	11	14	9	7	0	1	1	0	0	1	1	2	3	2	3	2	2	2	1	2	2	5	7	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.416T>G	p.Leu139Arg	p.L139R	ENST00000514591	7/25	62	52	10	86	86	0	strelka-varscan-mutect	ADGRL3,missense_variant,p.Leu139Arg,ENST00000512091,NM_001322246.1;ADGRL3,missense_variant,p.Leu139Arg,ENST00000514591,NM_015236.4;ADGRL3,missense_variant,p.Leu207Arg,ENST00000509896,;ADGRL3,missense_variant,p.Leu207Arg,ENST00000511324,;ADGRL3,missense_variant,p.Leu207Arg,ENST00000508693,;ADGRL3,missense_variant,p.Leu207Arg,ENST00000507164,;ADGRL3,missense_variant,p.Leu207Arg,ENST00000506720,;ADGRL3,missense_variant,p.Leu207Arg,ENST00000506746,;ADGRL3,missense_variant,p.Leu207Arg,ENST00000507625,;ADGRL3,missense_variant,p.Leu139Arg,ENST00000506700,;ADGRL3,missense_variant,p.Leu139Arg,ENST00000504896,;ADGRL3,missense_variant,p.Leu139Arg,ENST00000514157,;ADGRL3,missense_variant,p.Leu139Arg,ENST00000508946,;ADGRL3,missense_variant,p.Leu139Arg,ENST00000514996,;	G	ENST00000514591	Transcript	missense_variant	745/6297	416/4410	139/1469	L/R	cTa/cGa		1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4	deleterious(0)		7/25		PROSITE_profiles:PS51132,hmmpanther:PTHR12011:SF60,hmmpanther:PTHR12011,SMART_domains:SM00284																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	50	61732775	61732775	T	G	1	0	0	0	0	1	0	0	0	377	1522	53	5		5	ADGRL3	4	61732775	Missense_Mutation	SNP	T	C3N-00547_TP	7459227	61732775	128481780	177	15638											
ADGRL3	0	.	GRCh38	chr4	61733125	61733125	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgatacctccccttacCgatggggaggcaaatctgac	11	8	9	13	1	1	2	0	2	1	0	2	4	2	3	5	3	2	1	5	3	3	2	rs371272321		C3N-00547_TP	C3N-00547_NB	C	C																c.766C>A	p.=	p.R256R	ENST00000514591	7/25	185	161	24	205	205	0	strelka-varscan-mutect	ADGRL3,synonymous_variant,p.=,ENST00000512091,NM_001322246.1;ADGRL3,synonymous_variant,p.=,ENST00000514591,NM_015236.4;ADGRL3,synonymous_variant,p.=,ENST00000509896,;ADGRL3,synonymous_variant,p.=,ENST00000511324,;ADGRL3,synonymous_variant,p.=,ENST00000508693,;ADGRL3,synonymous_variant,p.=,ENST00000507164,;ADGRL3,synonymous_variant,p.=,ENST00000506720,;ADGRL3,synonymous_variant,p.=,ENST00000506746,;ADGRL3,synonymous_variant,p.=,ENST00000507625,;ADGRL3,synonymous_variant,p.=,ENST00000506700,;ADGRL3,synonymous_variant,p.=,ENST00000504896,;ADGRL3,synonymous_variant,p.=,ENST00000514157,;ADGRL3,synonymous_variant,p.=,ENST00000508946,;ADGRL3,synonymous_variant,p.=,ENST00000514996,;	A	ENST00000514591	Transcript	synonymous_variant	1095/6297	766/4410	256/1469	R	Cga/Aga	rs371272321	1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4			7/25		PROSITE_profiles:PS51132,Pfam_domain:PF02191,SMART_domains:SM00284																	LOW	1	SNV	5			1										PASS		rs371272321	.												A	2	1	50	61733125	61733125	C	A	1	0	0	0	0	0	0	0	1	377	644	23	1		1	ADGRL3	4	61733125	Silent	SNP	C	C3N-00547_TP	350	61733125	128481430	178	15639											
ADGRL3	0	.	GRCh38	chr4	62070549	62070549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attataccagaaggcggatcCcccaagaccacagtgagagc	14	5	10	12	1	0	3	0	1	0	3	1	5	1	4	4	2	2	0	4	2	4	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.4051C>G	p.Pro1351Ala	p.P1351A	ENST00000514591	25/25	216	150	66	238	238	0	strelka-varscan-mutect	ADGRL3,missense_variant,p.Pro1351Ala,ENST00000514591,NM_015236.4;ADGRL3,missense_variant,p.Pro1462Ala,ENST00000506720,;ADGRL3,missense_variant,p.Pro1453Ala,ENST00000506746,;ADGRL3,missense_variant,p.Pro1410Ala,ENST00000507625,;ADGRL3,missense_variant,p.Pro1394Ala,ENST00000508946,;ADGRL3,missense_variant,p.Pro1385Ala,ENST00000514996,;ADGRL3,missense_variant,p.Pro800Ala,ENST00000502815,;ADGRL3,3_prime_UTR_variant,,ENST00000512091,NM_001322246.1;ADGRL3,3_prime_UTR_variant,,ENST00000509896,;ADGRL3,3_prime_UTR_variant,,ENST00000511324,;ADGRL3,3_prime_UTR_variant,,ENST00000508693,;ADGRL3,3_prime_UTR_variant,,ENST00000507164,;ADGRL3,3_prime_UTR_variant,,ENST00000506700,;ADGRL3,3_prime_UTR_variant,,ENST00000504896,;ADGRL3,3_prime_UTR_variant,,ENST00000514157,;ADGRL3-AS1,downstream_gene_variant,,ENST00000506704,;ADGRL3-AS1,downstream_gene_variant,,ENST00000504135,;ADGRL3-AS1,downstream_gene_variant,,ENST00000509461,;	G	ENST00000514591	Transcript	missense_variant	4380/6297	4051/4410	1351/1469	P/A	Ccc/Gcc		1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4	tolerated_low_confidence(0.16)		25/25		Pfam_domain:PF02354																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	50	62070549	62070549	C	G	1	0	0	0	0	1	0	0	0	377	623	22	4		4	ADGRL3	4	62070549	Missense_Mutation	SNP	C	C3N-00547_TP	337424	62070549	128144006	179	15640											
TMPRSS11A	0	.	GRCh38	chr4	67914597	67914597	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaacttaccctgcaggcAtcataaattccttccatata	12	12	3	14	0	1	0	1	0	0	0	4	0	4	0	4	1	3	2	4	1	6	6	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1095T>A	p.Asp365Glu	p.D365E	ENST00000334830	9/10	217	155	62	318	318	0	strelka-varscan-mutect	TMPRSS11A,missense_variant,p.Asp362Glu,ENST00000508048,NM_001114387.1;TMPRSS11A,missense_variant,p.Asp365Glu,ENST00000334830,NM_182606.3;TMPRSS11A,missense_variant,p.Asp329Glu,ENST00000513536,;UBA6-AS1,intron_variant,,ENST00000500538,;	T	ENST00000334830	Transcript	missense_variant	1842/3054	1095/1266	365/421	D/E	gaT/gaA		1		-1	TMPRSS11A	HGNC	HGNC:27954	protein_coding	YES	CCDS3519.1	ENSP00000334611		A0A0A0MR82	UPI0000457217	NM_182606.3	deleterious(0)		9/10		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF37,PROSITE_patterns:PS00135,Pfam_domain:PF00089,Gene3D:2.40.10.10,PIRSF_domain:PIRSF037941,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	50	67914597	67914597	A	T	1	0	0	0	0	1	0	0	0	16715	214	8	4		4	TMPRSS11A	4	67914597	Missense_Mutation	SNP	A	C3N-00547_TP	5844048	67914597	122299958	180	15641											
TMPRSS11B	0	.	GRCh38	chr4	68228032	68228032	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccaacaagatgccagataTttctggaatcagggtaagct	13	11	9	8	0	2	2	1	0	1	2	3	3	3	3	2	2	3	2	2	2	5	4	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.1130A>T	p.Asn377Ile	p.N377I	ENST00000332644	10/10	113	72	41	169	169	0	strelka-varscan-mutect	TMPRSS11B,missense_variant,p.Asn377Ile,ENST00000332644,NM_182502.3;TMPRSS11B,downstream_gene_variant,,ENST00000502365,;TMPRSS11B,downstream_gene_variant,,ENST00000510856,;	A	ENST00000332644	Transcript	missense_variant	1292/2671	1130/1251	377/416	N/I	aAt/aTt		1		-1	TMPRSS11B	HGNC	HGNC:25398	protein_coding	YES	CCDS3521.1	ENSP00000330475	Q86T26		UPI000013E249	NM_182502.3	deleterious(0)		10/10		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF171,hmmpanther:PTHR24256,PIRSF_domain:PIRSF037941,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	68228032	68228032	T	A	1	0	0	0	0	1	0	0	0	16716	1493	52	4		4	TMPRSS11B	4	68228032	Missense_Mutation	SNP	T	C3N-00547_TP	313435	68228032	121986523	181	15642											
TMPRSS11E	0	.	GRCh38	chr4	68466748	68466748	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagccagagacttgaatCaatggtaagcaacttgtcat	15	10	9	7	0	2	3	2	2	0	1	2	4	2	3	1	1	3	2	1	1	5	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.254C>A	p.Ser85Ter	p.S85*	ENST00000305363	3/10	139	126	13	237	237	0	strelka-varscan-mutect	TMPRSS11E,stop_gained,p.Ser85Ter,ENST00000305363,NM_014058.3;TMPRSS11E,stop_gained,p.Ser82Ter,ENST00000510647,;	A	ENST00000305363	Transcript	stop_gained	318/2136	254/1272	85/423	S/*	tCa/tAa		1		1	TMPRSS11E	HGNC	HGNC:24465	protein_coding	YES	CCDS33993.1	ENSP00000307519	Q9UL52		UPI00000389F7	NM_014058.3			3/10		PROSITE_profiles:PS50024,PIRSF_domain:PIRSF037941,Gene3D:1ivzA00,Pfam_domain:PF01390,Superfamily_domains:0047452																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	50	68466748	68466748	C	A	1	0	0	0	0	0	1	0	0	16718	840	29	2		2	TMPRSS11E	4	68466748	Nonsense_Mutation	SNP	C	C3N-00547_TP	238716	68466748	121747807	182	15643											
SMR3B	0	.	GRCh38	chr4	70389766	70389766	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaccacctcctcctccacCctatggtccagggagaatcc	8	8	6	19	0	0	1	0	0	0	1	6	2	6	1	9	2	0	0	9	2	2	1	rs753598635		C3N-00547_TP	C3N-00547_NB	C	C																c.158C>A	p.Pro53His	p.P53H	ENST00000304915	3/3	230	213	17	295	293	2	strelka-varscan-mutect	SMR3B,missense_variant,p.Pro53His,ENST00000304915,NM_006685.3;SMR3B,missense_variant,p.Pro53His,ENST00000614072,;SMR3B,missense_variant,p.Pro53His,ENST00000504825,;SMR3B,downstream_gene_variant,,ENST00000508027,;	A	ENST00000304915	Transcript	missense_variant	307/785	158/240	53/79	P/H	cCc/cAc	rs753598635	1		1	SMR3B	HGNC	HGNC:17326	protein_coding	YES	CCDS3540.1	ENSP00000302400	P02814		UPI0000132226	NM_006685.3	deleterious_low_confidence(0)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR14179,hmmpanther:PTHR14179:SF10,Pfam_domain:PF15621																	MODERATE	1	SNV	1			1										PASS		rs753598635	.												A	3	1	50	70389766	70389766	C	A	1	0	0	0	0	1	0	0	0	15133	623	22	2		2	SMR3B	4	70389766	Missense_Mutation	SNP	C	C3N-00547_TP	1923018	70389766	119824789	183	15644											
CNOT6L	0	.	GRCh38	chr4	77774703	77774703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccaaagtgatgtacttagGctccgcactctacctaaaag	13	9	8	11	1	1	1	0	1	1	0	2	2	2	1	3	1	2	3	3	1	6	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.141C>A	p.Ser47Arg	p.S47R	ENST00000504123	3/12	51	47	4	84	84	0	varscan-mutect	CNOT6L,missense_variant,p.Ser47Arg,ENST00000504123,NM_144571.2,NM_001286790.1;CNOT6L,missense_variant,p.Ser76Arg,ENST00000515506,;CNOT6L,missense_variant,p.Ser54Arg,ENST00000512485,;CNOT6L,missense_variant,p.Ser47Arg,ENST00000515441,;CNOT6L,non_coding_transcript_exon_variant,,ENST00000506166,;CNOT6L,missense_variant,p.Ala46Asp,ENST00000504804,;	T	ENST00000504123	Transcript	missense_variant	272/8843	141/1668	47/555	S/R	agC/agA		1		-1	CNOT6L	HGNC	HGNC:18042	protein_coding	YES	CCDS68731.1	ENSP00000424896	Q96LI5		UPI0000E445DF	NM_144571.2,NM_001286790.1	deleterious(0)		3/12		Low_complexity_(Seg):seg,hmmpanther:PTHR12121:SF35,hmmpanther:PTHR12121,Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	MODERATE	1	SNV	2			1										PASS		rs1384585267	.												T	3	4	50	77774703	77774703	G	T	1	0	0	0	0	1	0	0	0	3403	1194	42	2		2	CNOT6L	4	77774703	Missense_Mutation	SNP	G	C3N-00547_TP	7384937	77774703	112439852	184	15645											
FRAS1	0	.	GRCh38	chr4	78481841	78481841	+	Missense_Mutation	SNP	C	C	A																															gttatccgccatggtactgaCctctctactttcgcatctgt																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.8481C>A	p.Asp2827Glu	p.D2827E	ENST00000512123	57/74	186	166	20	272	272	0	strelka-varscan-mutect	FRAS1,missense_variant,p.Asp2827Glu,ENST00000512123,NM_025074.6;	A	ENST00000512123	Transcript	missense_variant	8921/15624	8481/12039	2827/4012	D/E	gaC/gaA		1		1	FRAS1	HGNC	HGNC:19185	protein_coding	YES	CCDS54771.1	ENSP00000422834	Q86XX4		UPI000021D4C2	NM_025074.6	deleterious(0)		57/74		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF29,SMART_domains:SM00237,Superfamily_domains:SSF141072																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	78481841	78481841	C	A	1	0	0	0	0	1	0	0	0	5908	506	18	2		2	FRAS1	4	78481841	Missense_Mutation	SNP	C	C3N-00547_TP	707138	78481841	111732714	185	15646	332	2									
FRAS1	0	.	GRCh38	chr4	78481842	78481842	+	Missense_Mutation	SNP	C	C	A																															ttatccgccatggtactgacCtctctactttcgcatctgtc																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.8482C>A	p.Leu2828Ile	p.L2828I	ENST00000512123	57/74	189	170	19	273	273	0	strelka-varscan-mutect	FRAS1,missense_variant,p.Leu2828Ile,ENST00000512123,NM_025074.6;	A	ENST00000512123	Transcript	missense_variant	8922/15624	8482/12039	2828/4012	L/I	Ctc/Atc		1		1	FRAS1	HGNC	HGNC:19185	protein_coding	YES	CCDS54771.1	ENSP00000422834	Q86XX4		UPI000021D4C2	NM_025074.6	deleterious(0)		57/74		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF29,SMART_domains:SM00237,Superfamily_domains:SSF141072																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	78481842	78481842	C	A	1	0	0	0	0	1	0	0	0	5908	681	24	2		2	FRAS1	4	78481842	Missense_Mutation	SNP	C	C3N-00547_TP	1	78481842	111732713	186	15647	332	2									
PTPN13	0	.	GRCh38	chr4	86772947	86772947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttggaaaatcaccttgaaGactttgaactggtaagttgt	13	13	9	6	0	1	3	1	2	0	1	1	4	1	4	1	2	1	2	1	2	5	5	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.5353G>C	p.Asp1785His	p.D1785H	ENST00000436978	32/48	75	68	7	89	89	0	strelka-varscan-mutect	PTPN13,missense_variant,p.Asp1785His,ENST00000436978,NM_080685.2;PTPN13,missense_variant,p.Asp1761His,ENST00000427191,NM_006264.2;PTPN13,missense_variant,p.Asp1780His,ENST00000411767,NM_080683.2;PTPN13,missense_variant,p.Asp1785His,ENST00000511467,;PTPN13,missense_variant,p.Asp1589His,ENST00000316707,NM_080684.2;	C	ENST00000436978	Transcript	missense_variant	5833/8573	5353/7473	1785/2490	D/H	Gac/Cac		1		1	PTPN13	HGNC	HGNC:9646	protein_coding	YES	CCDS47093.1	ENSP00000394794	Q12923		UPI000016075D	NM_080685.2	deleterious(0.01)		32/48		Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF000933,Gene3D:2.30.42.10																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	50	86772947	86772947	G	C	1	0	0	0	0	1	0	0	0	12935	942	33	4		4	PTPN13	4	86772947	Missense_Mutation	SNP	G	C3N-00547_TP	8291105	86772947	103441608	187	15648											
UNC5C	0	.	GRCh38	chr4	95170224	95170224	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggggggcatccaggctgcTacagagcttctgccggatag	7	8	15	11	1	1	1	0	0	1	1	2	2	2	2	2	5	4	4	2	5	2	3	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.2560A>T	p.Ser854Cys	p.S854C	ENST00000453304	15/16	190	171	19	240	240	0	strelka-varscan-mutect	UNC5C,missense_variant,p.Ser854Cys,ENST00000453304,NM_003728.3;UNC5C,missense_variant,p.Ser813Cys,ENST00000610318,;	A	ENST00000453304	Transcript	missense_variant	2909/9875	2560/2796	854/931	S/C	Agc/Tgc		1		-1	UNC5C	HGNC	HGNC:12569	protein_coding	YES	CCDS3643.1	ENSP00000406022	O95185		UPI000004E6A5	NM_003728.3	deleterious(0.01)		15/16		Gene3D:1.10.533.10,Pfam_domain:PF00531,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7,SMART_domains:SM00005,Superfamily_domains:SSF47986																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	95170224	95170224	T	A	1	0	0	0	0	1	0	0	0	17517	1522	53	4		4	UNC5C	4	95170224	Missense_Mutation	SNP	T	C3N-00547_TP	8397277	95170224	95044331	188	15649											
MANBA	0	.	GRCh38	chr4	102635899	102635899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataatccgagtgaagatctGacacaccatagatatagaac	18	8	7	8	1	1	5	0	2	1	3	2	6	2	5	2	0	1	0	2	0	7	4			C3N-00547_TP	C3N-00547_NB	G	G																c.2123C>T	p.Ser708Leu	p.S708L	ENST00000226578	15/17	279	151	128	294	294	0	strelka-varscan-mutect	MANBA,missense_variant,p.Ser708Leu,ENST00000226578,NM_005908.3;MANBA,missense_variant,p.Ser651Leu,ENST00000505239,;MANBA,non_coding_transcript_exon_variant,,ENST00000514430,;MANBA,downstream_gene_variant,,ENST00000508141,;	A	ENST00000226578	Transcript	missense_variant	2223/2904	2123/2640	708/879	S/L	tCa/tTa	COSM3945826	1		-1	MANBA	HGNC	HGNC:6831	protein_coding	YES	CCDS3658.1	ENSP00000226578	O00462		UPI000013C8A2	NM_005908.3	deleterious(0.04)		15/17		hmmpanther:PTHR10066,hmmpanther:PTHR10066:SF65,Superfamily_domains:SSF49303											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	50	102635899	102635899	G	A	1	0	0	0	0	1	0	0	0	9140	1294	45	3		3	MANBA	4	102635899	Missense_Mutation	SNP	G	C3N-00547_TP	7465675	102635899	87578656	189	15650											
KIAA1109	0	.	GRCh38	chr4	122211072	122211072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taactctctatggacctctaCtaaatgcctttttgtgtata	10	17	5	9	0	2	0	0	0	2	0	3	1	2	1	2	1	3	1	2	1	7	8	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2224C>A	p.Leu742Ile	p.L742I	ENST00000264501	20/86	147	118	29	250	249	1	strelka-varscan-mutect	KIAA1109,missense_variant,p.Leu742Ile,ENST00000264501,;KIAA1109,missense_variant,p.Leu742Ile,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Leu575Ile,ENST00000424425,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000495260,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000482114,;	A	ENST00000264501	Transcript	missense_variant	2597/15896	2224/15018	742/5005	L/I	Cta/Ata		1		1	KIAA1109	HGNC	HGNC:26953	protein_coding	YES	CCDS43267.1	ENSP00000264501	Q2LD37		UPI0000DD87B4		tolerated(0.17)		20/86		hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	122211072	122211072	C	A	1	0	0	0	0	1	0	0	0	8101	564	20	2		2	KIAA1109	4	122211072	Missense_Mutation	SNP	C	C3N-00547_TP	19575173	122211072	68003483	190	15651											
FREM3	0	.	GRCh38	chr4	143698220	143698220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggttgcaggaataatGtgaatgtgcctggcacgcta	11	9	12	9	1	0	1	0	1	0	0	0	2	0	2	2	3	2	4	2	3	4	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2456C>A	p.Thr819Lys	p.T819K	ENST00000329798	1/8	186	105	81	228	228	0	strelka-varscan-mutect	FREM3,missense_variant,p.Thr819Lys,ENST00000329798,NM_001168235.1;RP13-578N3.3,upstream_gene_variant,,ENST00000499587,;	T	ENST00000329798	Transcript	missense_variant	2456/6729	2456/6420	819/2139	T/K	aCa/aAa		1		-1	FREM3	HGNC	HGNC:25172	protein_coding	YES	CCDS54808.1	ENSP00000332886	P0C091		UPI0000D615C2	NM_001168235.1	deleterious(0)		1/8		Pfam_domain:PF16184,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF31																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	50	143698220	143698220	G	T	1	0	0	0	0	1	0	0	0	5913	1377	48	2		2	FREM3	4	143698220	Missense_Mutation	SNP	G	C3N-00547_TP	21487148	143698220	46516335	191	15652											
LRBA	0	.	GRCh38	chr4	150436744	150436744	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattcttagcagccatgcaaGaacaaaacttgcagttgagt	14	11	8	8	0	1	2	0	1	1	1	1	2	1	2	1	0	6	4	1	0	6	5	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.6934C>G	p.Leu2312Val	p.L2312V	ENST00000357115	46/58	88	83	5	158	158	0	strelka-varscan-mutect	LRBA,missense_variant,p.Leu2301Val,ENST00000510413,NM_001199282.2;LRBA,missense_variant,p.Leu2312Val,ENST00000357115,NM_006726.4;LRBA,missense_variant,p.Leu2301Val,ENST00000507224,;LRBA,missense_variant,p.Leu954Val,ENST00000509835,;LRBA,non_coding_transcript_exon_variant,,ENST00000503716,;	C	ENST00000357115	Transcript	missense_variant	7178/9899	6934/8592	2312/2863	L/V	Ctt/Gtt		1		-1	LRBA	HGNC	HGNC:1742	protein_coding	YES	CCDS3773.1	ENSP00000349629	P50851		UPI000013E35C	NM_006726.4	deleterious(0)		46/58		Gene3D:1t77A02,Pfam_domain:PF02138,PROSITE_profiles:PS50197,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64,SMART_domains:SM01026,Superfamily_domains:SSF81837																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	150436744	150436744	G	C	1	0	0	0	0	1	0	0	0	8825	942	33	4		4	LRBA	4	150436744	Missense_Mutation	SNP	G	C3N-00547_TP	6738524	150436744	39777811	192	15653											
LRBA	0	.	GRCh38	chr4	150905847	150905847	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atatatattaccttggctggGgtatgaatccatatggcagg	11	13	11	6	0	0	1	0	1	0	0	1	1	1	1	2	5	1	3	2	5	7	7	rs770658064		C3N-00547_TP	C3N-00547_NB	G	G																c.1746C>A	p.=	p.T582T	ENST00000357115	13/58	79	74	5	98	98	0	strelka-varscan-mutect	LRBA,synonymous_variant,p.=,ENST00000510413,NM_001199282.2;LRBA,synonymous_variant,p.=,ENST00000357115,NM_006726.4;LRBA,synonymous_variant,p.=,ENST00000507224,;	T	ENST00000357115	Transcript	synonymous_variant	1990/9899	1746/8592	582/2863	T	acC/acA	rs770658064	1		-1	LRBA	HGNC	HGNC:1742	protein_coding	YES	CCDS3773.1	ENSP00000349629	P50851		UPI000013E35C	NM_006726.4			13/58		Pfam_domain:PF15787,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64																	LOW	1	SNV	1			1										PASS		rs770658064	.												T	2	4	50	150905847	150905847	G	T	1	0	0	0	0	0	0	0	1	8825	1219	43	2		2	LRBA	4	150905847	Silent	SNP	G	C3N-00547_TP	469103	150905847	39308708	193	15654											
FGG	0	.	GRCh38	chr4	154606864	154606864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaaacttgtcactaggatCatcgccaaaatcaaagccat	17	8	6	10	1	3	0	3	0	0	0	4	2	3	1	2	1	2	0	2	1	6	2	rs747963231		C3N-00547_TP	C3N-00547_NB	C	C																c.970G>C	p.Asp324His	p.D324H	ENST00000336098	8/9	157	106	51	192	192	0	strelka-varscan-mutect	FGG,missense_variant,p.Asp324His,ENST00000404648,NM_000509.4;FGG,missense_variant,p.Asp324His,ENST00000336098,NM_021870.2;FGG,missense_variant,p.Asp332His,ENST00000407946,;FGG,missense_variant,p.Asp332His,ENST00000405164,;FGG,downstream_gene_variant,,ENST00000443553,;FGG,downstream_gene_variant,,ENST00000393846,;FGG,non_coding_transcript_exon_variant,,ENST00000492082,;FGG,non_coding_transcript_exon_variant,,ENST00000465913,;FGG,downstream_gene_variant,,ENST00000473393,;FGG,downstream_gene_variant,,ENST00000465336,;FGG,downstream_gene_variant,,ENST00000464532,;	G	ENST00000336098	Transcript	missense_variant	1009/1659	970/1362	324/453	D/H	Gat/Cat	rs747963231	1		-1	FGG	HGNC	HGNC:3694	protein_coding	YES	CCDS3788.1	ENSP00000336829	P02679		UPI000012A78D	NM_021870.2	tolerated(0.1)		8/9		Gene3D:3.90.215.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF22,Low_complexity_(Seg):seg,SMART_domains:SM00186,Superfamily_domains:SSF56496																	MODERATE	1	SNV	2			1										PASS		rs747963231	.												G	3	3	50	154606864	154606864	C	G	1	0	0	0	0	1	0	0	0	5734	826	29	4		4	FGG	4	154606864	Missense_Mutation	SNP	C	C3N-00547_TP	3701017	154606864	35607691	194	15655											
FGG	0	.	GRCh38	chr4	154609730	154609730	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaagtaaagcccgctcTgtttagctcccttattggca	11	13	7	10	1	1	0	0	0	1	0	2	0	2	0	2	1	2	5	2	1	7	7	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.566A>T	p.Gln189Leu	p.Q189L	ENST00000336098	6/9	325	180	145	415	415	0	strelka-varscan-mutect	FGG,missense_variant,p.Gln189Leu,ENST00000404648,NM_000509.4;FGG,missense_variant,p.Gln189Leu,ENST00000336098,NM_021870.2;FGG,missense_variant,p.Gln197Leu,ENST00000407946,;FGG,missense_variant,p.Gln197Leu,ENST00000405164,;FGG,missense_variant,p.Gln86Leu,ENST00000443553,;FGG,missense_variant,p.Gln86Leu,ENST00000393846,;FGG,non_coding_transcript_exon_variant,,ENST00000492082,;FGG,non_coding_transcript_exon_variant,,ENST00000465913,;FGG,downstream_gene_variant,,ENST00000473393,;FGG,downstream_gene_variant,,ENST00000465336,;FGG,downstream_gene_variant,,ENST00000464532,;FGG,downstream_gene_variant,,ENST00000484695,;	A	ENST00000336098	Transcript	missense_variant	605/1659	566/1362	189/453	Q/L	cAg/cTg		1		-1	FGG	HGNC	HGNC:3694	protein_coding	YES	CCDS3788.1	ENSP00000336829	P02679		UPI000012A78D	NM_021870.2	tolerated(0.18)		6/9		Gene3D:3.90.215.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF22,SMART_domains:SM00186,Superfamily_domains:SSF56496																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	50	154609730	154609730	T	A	1	0	0	0	0	1	0	0	0	5734	1580	55	4		4	FGG	4	154609730	Missense_Mutation	SNP	T	C3N-00547_TP	2866	154609730	35604825	195	15656											
NPY2R	0	.	GRCh38	chr4	155214830	155214830	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgacattgacagccaggtCctggacctgaaggagtacaa	12	8	12	9	0	0	3	0	3	0	0	1	5	1	5	3	3	2	2	3	3	3	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.891C>A	p.=	p.V297V	ENST00000329476	2/2	57	29	28	75	75	0	strelka-varscan-mutect	NPY2R,synonymous_variant,p.=,ENST00000329476,NM_000910.3;NPY2R,synonymous_variant,p.=,ENST00000506608,;AC097467.2,intron_variant,,ENST00000630664,;	A	ENST00000329476	Transcript	synonymous_variant	1380/3626	891/1146	297/381	V	gtC/gtA		1		1	NPY2R	HGNC	HGNC:7957	protein_coding	YES	CCDS3791.1	ENSP00000332591	P49146		UPI000003B342	NM_000910.3			2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF42,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01014																	LOW	1	SNV	1			1										PASS		rs1390313583	.												A	2	1	50	155214830	155214830	C	A	1	0	0	0	0	0	0	0	1	10664	842	30	2		2	NPY2R	4	155214830	Silent	SNP	C	C3N-00547_TP	605100	155214830	34999725	196	15657											
GUCY1A3	0	.	GRCh38	chr4	155710934	155710934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccctacttgttgtactccGttcacatgaaaagcaccaag	12	10	7	12	1	1	1	1	1	0	0	2	1	2	1	3	0	4	4	3	0	5	5	rs372152908		C3N-00547_TP	C3N-00547_NB	G	G																c.769G>T	p.Val257Phe	p.V257F	ENST00000296518	6/10	111	102	9	92	92	0	strelka-varscan-mutect	GUCY1A3,missense_variant,p.Val257Phe,ENST00000296518,;GUCY1A3,missense_variant,p.Val257Phe,ENST00000511108,NM_000856.5;GUCY1A3,missense_variant,p.Val257Phe,ENST00000506455,NM_001130682.2;GUCY1A3,missense_variant,p.Val257Phe,ENST00000513574,NM_001130684.2;GUCY1A3,missense_variant,p.Val257Phe,ENST00000455639,NM_001256449.1,NM_001130683.3;GUCY1A3,missense_variant,p.Val257Phe,ENST00000511507,NM_001130687.2;GUCY1A3,5_prime_UTR_variant,,ENST00000393832,NM_001130685.2;GUCY1A3,intron_variant,,ENST00000621234,;GUCY1A3,downstream_gene_variant,,ENST00000515602,;GUCY1A3,3_prime_UTR_variant,,ENST00000443668,;GUCY1A3,non_coding_transcript_exon_variant,,ENST00000512983,;GUCY1A3,intron_variant,,ENST00000515201,;GUCY1A3,intron_variant,,ENST00000509901,;	T	ENST00000296518	Transcript	missense_variant	978/4400	769/2073	257/690	V/F	Gtt/Ttt	rs372152908,COSM267856	1		1	GUCY1A3	HGNC	HGNC:4685	protein_coding	YES	CCDS34085.1	ENSP00000296518	Q02108		UPI0000033343		tolerated(0.21)		6/10		hmmpanther:PTHR11920:SF226,hmmpanther:PTHR11920											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs372152908	.												T	3	4	50	155710934	155710934	G	T	1	0	0	0	0	1	0	0	0	6776	1145	40	1		1	GUCY1A3	4	155710934	Missense_Mutation	SNP	G	C3N-00547_TP	496104	155710934	34503621	197	15658											
RAPGEF2	0	.	GRCh38	chr4	159330422	159330422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agactttctgttgacctataGgacttttctttctagcccaa	9	16	6	10	0	3	2	0	1	3	1	3	3	3	3	2	1	1	1	2	1	4	8	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.908G>T	p.Arg303Met	p.R303M	ENST00000264431	7/24	69	47	22	123	123	0	strelka-varscan-mutect	RAPGEF2,missense_variant,p.Arg303Met,ENST00000264431,NM_014247.2;RAPGEF2,upstream_gene_variant,,ENST00000512056,;RAPGEF2,non_coding_transcript_exon_variant,,ENST00000513816,;	T	ENST00000264431	Transcript	missense_variant	1327/6949	908/4500	303/1499	R/M	aGg/aTg		1		1	RAPGEF2	HGNC	HGNC:16854	protein_coding	YES	CCDS43277.1	ENSP00000264431	Q9Y4G8		UPI0000033783	NM_014247.2	deleterious(0)		7/24		PROSITE_profiles:PS50212,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF217,Gene3D:2ii0A01,Pfam_domain:PF00618,SMART_domains:SM00229,Superfamily_domains:0041591																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	159330422	159330422	G	T	1	0	0	0	0	1	0	0	0	13203	1000	35	2		2	RAPGEF2	4	159330422	Missense_Mutation	SNP	G	C3N-00547_TP	3619488	159330422	30884133	198	15659											
TRIM60	0	.	GRCh38	chr4	165041218	165041218	+	Silent	SNP	G	G	T																															caggatcagccatcagttctGggcggattctgggcaattgg																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1146G>T	p.=	p.L382L	ENST00000512596	3/3	155	96	59	182	182	0	strelka-varscan-mutect	TRIM60,synonymous_variant,p.=,ENST00000512596,NM_152620.2;TRIM60,synonymous_variant,p.=,ENST00000341062,;TRIM60,synonymous_variant,p.=,ENST00000508504,NM_001258025.1;TRIM60,downstream_gene_variant,,ENST00000507119,;RP11-366M4.17,upstream_gene_variant,,ENST00000508621,;	T	ENST00000512596	Transcript	synonymous_variant	1362/1888	1146/1416	382/471	L	ctG/ctT		1		1	TRIM60	HGNC	HGNC:21162	protein_coding	YES	CCDS3808.1	ENSP00000421142	Q495X7		UPI000006DAAD	NM_152620.2			3/3		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF304,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	50	165041218	165041218	G	T	1	0	0	0	0	0	0	0	1	17027	1335	47	2		2	TRIM60	4	165041218	Silent	SNP	G	C3N-00547_TP	5710796	165041218	25173337	199	15660	333	2									
TRIM60	0	.	GRCh38	chr4	165041219	165041219	+	Missense_Mutation	SNP	G	G	T																															aggatcagccatcagttctgGgcggattctgggcaattggg																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1147G>T	p.Gly383Cys	p.G383C	ENST00000512596	3/3	150	91	59	178	178	0	strelka-varscan-mutect	TRIM60,missense_variant,p.Gly383Cys,ENST00000512596,NM_152620.2;TRIM60,missense_variant,p.Gly383Cys,ENST00000341062,;TRIM60,missense_variant,p.Gly383Cys,ENST00000508504,NM_001258025.1;TRIM60,downstream_gene_variant,,ENST00000507119,;RP11-366M4.17,upstream_gene_variant,,ENST00000508621,;	T	ENST00000512596	Transcript	missense_variant	1363/1888	1147/1416	383/471	G/C	Ggc/Tgc		1		1	TRIM60	HGNC	HGNC:21162	protein_coding	YES	CCDS3808.1	ENSP00000421142	Q495X7		UPI000006DAAD	NM_152620.2	deleterious(0.04)		3/3		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF304,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	50	165041219	165041219	G	T	1	0	0	0	0	1	0	0	0	17027	1232	43	2		2	TRIM60	4	165041219	Missense_Mutation	SNP	G	C3N-00547_TP	1	165041219	25173336	200	15661	333	2									
TRIM60	0	.	GRCh38	chr4	165041256	165041256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggcgatacatgaagagtgGttatgttgcgtcaggtccta	9	12	14	6	2	1	2	1	1	0	1	2	3	2	2	1	3	2	2	1	3	4	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1184G>T	p.Gly395Val	p.G395V	ENST00000512596	3/3	160	90	70	148	147	1	strelka-varscan-mutect	TRIM60,missense_variant,p.Gly395Val,ENST00000512596,NM_152620.2;TRIM60,missense_variant,p.Gly395Val,ENST00000341062,;TRIM60,missense_variant,p.Gly395Val,ENST00000508504,NM_001258025.1;TRIM60,downstream_gene_variant,,ENST00000507119,;RP11-366M4.17,upstream_gene_variant,,ENST00000508621,;	T	ENST00000512596	Transcript	missense_variant	1400/1888	1184/1416	395/471	G/V	gGt/gTt		1		1	TRIM60	HGNC	HGNC:21162	protein_coding	YES	CCDS3808.1	ENSP00000421142	Q495X7		UPI000006DAAD	NM_152620.2	tolerated(0.22)		3/3		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF304,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	2			1										PASS		rs1432243573	.												T	3	4	50	165041256	165041256	G	T	1	0	0	0	0	1	0	0	0	17027	1261	44	2		2	TRIM60	4	165041256	Missense_Mutation	SNP	G	C3N-00547_TP	37	165041256	25173299	201	15662											
CEP72	0	.	GRCh38	chr5	639189	639189	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggacaggagctggggcgGctgcaggtccctgcacagca	7	5	18	11	1	0	0	0	0	0	0	1	2	1	2	1	7	4	5	1	7	0	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1307G>C	p.Gly436Ala	p.G436A	ENST00000264935	8/12	78	68	10	89	89	0	strelka-varscan-mutect	CEP72,missense_variant,p.Gly436Ala,ENST00000264935,NM_018140.3;CEP72,upstream_gene_variant,,ENST00000512038,;	C	ENST00000264935	Transcript	missense_variant	1397/2434	1307/1944	436/647	G/A	gGc/gCc		1		1	CEP72	HGNC	HGNC:25547	protein_coding	YES	CCDS34126.1	ENSP00000264935	Q9P209		UPI0000072FB8	NM_018140.3	deleterious(0.01)		8/12		hmmpanther:PTHR23311,hmmpanther:PTHR23311:SF7																	MODERATE	1	SNV	1			1										PASS		rs1197507925	.												C	3	2	50	639189	639189	G	C	1	0	0	0	0	1	0	0	0	2981	1203	42	4		4	CEP72	5	639189	Missense_Mutation	SNP	G	C3N-00547_TP		639189	180899070	202	15663											
PAPD7	0	.	GRCh38	chr5	6751085	6751085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagtgtttaccagttcaGtctgcaagcgccagctcctc	7	10	9	15	1	2	0	1	0	1	0	4	0	3	0	4	0	4	4	4	0	2	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1157G>T	p.Ser386Ile	p.S386I	ENST00000631941	11/13	293	205	88	210	210	0	strelka-varscan-mutect	PAPD7,missense_variant,p.Ser636Ile,ENST00000230859,;PAPD7,missense_variant,p.Ser386Ile,ENST00000631941,NM_006999.4,NM_001171805.1;PAPD7,non_coding_transcript_exon_variant,,ENST00000514697,;PAPD7,non_coding_transcript_exon_variant,,ENST00000514410,;PAPD7,downstream_gene_variant,,ENST00000511764,;PAPD7,downstream_gene_variant,,ENST00000505457,;	T	ENST00000631941	Transcript	missense_variant	1345/1902	1157/1629	386/542	S/I	aGt/aTt		1		1	PAPD7	HGNC	HGNC:16705	protein_coding	YES	CCDS3871.1	ENSP00000488642	Q5XG87		UPI0000071E30	NM_006999.4,NM_001171805.1	tolerated_low_confidence(0.14)		11/13		hmmpanther:PTHR23092,hmmpanther:PTHR23092:SF24																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	6751085	6751085	G	T	1	0	0	0	0	1	0	0	0	11507	1029	36	2		2	PAPD7	5	6751085	Missense_Mutation	SNP	G	C3N-00547_TP	6111896	6751085	174787174	203	15664											
TRIO	0	.	GRCh38	chr5	14481597	14481597	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacgacatgatgaacgtGgggcggctgcaaggattcga	11	7	15	8	4	0	2	0	2	0	0	1	5	0	3	0	4	4	3	0	4	3	1	rs748999267		C3N-00547_TP	C3N-00547_NB	G	G																c.6444G>T	p.=	p.V2148V	ENST00000344204	45/57	229	167	62	243	242	1	strelka-varscan-mutect	TRIO,synonymous_variant,p.=,ENST00000344204,NM_007118.2;TRIO,synonymous_variant,p.=,ENST00000513206,;TRIO,synonymous_variant,p.=,ENST00000620511,;TRIO,synonymous_variant,p.=,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;TRIO,non_coding_transcript_exon_variant,,ENST00000511019,;TRIO,upstream_gene_variant,,ENST00000510281,;TRIO,downstream_gene_variant,,ENST00000506611,;	T	ENST00000344204	Transcript	synonymous_variant	6468/11100	6444/9294	2148/3097	V	gtG/gtT	rs748999267	1		1	TRIO	HGNC	HGNC:12303	protein_coding	YES	CCDS3883.1	ENSP00000339299	O75962		UPI000034ECE6	NM_007118.2			45/57		hmmpanther:PTHR22826:SF104,hmmpanther:PTHR22826,Superfamily_domains:SSF48065																	LOW	1	SNV	1			1										PASS		rs748999267	.												T	2	4	50	14481597	14481597	G	T	1	0	0	0	0	0	0	0	1	17049	1335	47	2		2	TRIO	5	14481597	Silent	SNP	G	C3N-00547_TP	7730512	14481597	167056662	204	15665											
CDH10	0	.	GRCh38	chr5	24488029	24488029	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgccgatatcaaaggcctgGgtgtcctcctctccaccacc	7	9	9	16	1	2	0	1	0	1	0	5	1	4	0	7	2	1	0	7	2	2	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2001C>A	p.=	p.T667T	ENST00000264463	12/12	475	362	113	469	469	0	strelka-varscan-mutect	CDH10,synonymous_variant,p.=,ENST00000264463,NM_006727.3;CDH10,non_coding_transcript_exon_variant,,ENST00000502921,;CDH10,3_prime_UTR_variant,,ENST00000510477,;CDH10,non_coding_transcript_exon_variant,,ENST00000503958,;	T	ENST00000264463	Transcript	synonymous_variant	2509/3438	2001/2367	667/788	T	acC/acA		1		-1	CDH10	HGNC	HGNC:1749	protein_coding	YES	CCDS3892.1	ENSP00000264463	Q9Y6N8	X5D8X5	UPI0000167B7B	NM_006727.3			12/12		hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027,Pfam_domain:PF01049																	LOW	1	SNV	1			1										PASS		rs1176079440	.												T	2	4	50	24488029	24488029	G	T	1	0	0	0	0	0	0	0	1	2799	1219	43	2		2	CDH10	5	24488029	Silent	SNP	G	C3N-00547_TP	10006432	24488029	157050230	205	15666											
ADAMTS12	0	.	GRCh38	chr5	33576090	33576090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatccagtgtgcagagccGtggccgtttgtgagctgctt	6	11	14	10	3	0	2	0	1	0	1	1	3	1	2	3	1	4	4	3	1	0	2	rs143099189		C3N-00547_TP	C3N-00547_NB	G	G																c.3936C>A	p.His1312Gln	p.H1312Q	ENST00000504830	19/24	116	79	37	127	127	0	strelka-varscan-mutect	ADAMTS12,missense_variant,p.His1312Gln,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.His1227Gln,ENST00000352040,;ADAMTS12,downstream_gene_variant,,ENST00000504582,;	T	ENST00000504830	Transcript	missense_variant	4272/8774	3936/4785	1312/1594	H/Q	caC/caA	rs143099189	1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	tolerated(0.61)		19/24																			MODERATE	1	SNV	1			1										PASS		rs143099189	.												T	3	4	50	33576090	33576090	G	T	1	0	0	0	0	1	0	0	0	301	1136	40	1		1	ADAMTS12	5	33576090	Missense_Mutation	SNP	G	C3N-00547_TP	9088061	33576090	147962169	206	15667											
AGXT2	0	.	GRCh38	chr5	35033519	35033519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccctacgtttgtcaagcCaagtgtgtaaggactgcatc	9	11	11	10	1	1	0	1	0	0	0	3	1	2	1	2	2	3	3	2	2	4	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.616G>T	p.Gly206Cys	p.G206C	ENST00000231420	6/14	364	267	97	340	340	0	strelka-varscan-mutect	AGXT2,missense_variant,p.Gly206Cys,ENST00000231420,NM_031900.3;AGXT2,missense_variant,p.Gly206Cys,ENST00000618015,;AGXT2,missense_variant,p.Gly206Cys,ENST00000510428,;AGXT2,non_coding_transcript_exon_variant,,ENST00000505542,;	A	ENST00000231420	Transcript	missense_variant	817/2364	616/1545	206/514	G/C	Ggc/Tgc		1		-1	AGXT2	HGNC	HGNC:14412	protein_coding	YES	CCDS3908.1	ENSP00000231420	Q9BYV1		UPI0000125709	NM_031900.3	deleterious(0)		6/14		Gene3D:3.40.640.10,Pfam_domain:PF00202,hmmpanther:PTHR11986,hmmpanther:PTHR11986:SF58,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	35033519	35033519	C	A	1	0	0	0	0	1	0	0	0	484	594	21	2		2	AGXT2	5	35033519	Missense_Mutation	SNP	C	C3N-00547_TP	1457429	35033519	146504740	207	15668											
NIM1K	0	.	GRCh38	chr5	43277071	43277071	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcagaaaaggtggccattAagatcctggacaagaccaag	15	7	11	8	0	0	3	0	0	0	3	1	4	1	4	3	3	1	1	3	3	5	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.307A>C	p.Lys103Gln	p.K103Q	ENST00000512796	3/4	169	115	54	178	178	0	strelka-varscan-mutect	NIM1K,missense_variant,p.Lys103Gln,ENST00000512796,;NIM1K,missense_variant,p.Lys103Gln,ENST00000326035,NM_153361.3;	C	ENST00000512796	Transcript	missense_variant	1806/2929	307/1311	103/436	K/Q	Aag/Cag		1		1	NIM1K	HGNC	HGNC:28646	protein_coding	YES	CCDS3943.1	ENSP00000420849	Q8IY84		UPI0000035B5F		deleterious(0)		3/4		PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF0,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	50	43277071	43277071	A	C	1	0	0	0	0	1	0	0	0	10451	363	13	5		5	NIM1K	5	43277071	Missense_Mutation	SNP	A	C3N-00547_TP	8243552	43277071	138261188	208	15669											
ITGA2	0	.	GRCh38	chr5	53060013	53060013	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatcacagttcatatttagGtaaggcatggtaataattgg	15	13	9	4	0	2	0	2	0	0	0	2	0	2	0	0	4	0	4	0	4	6	8	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1312+1G>T		p.X438_splice	ENST00000296585		472	275	197	408	406	2	strelka-varscan-mutect	ITGA2,splice_donor_variant,,ENST00000296585,NM_002203.3;ITGA2,splice_donor_variant,,ENST00000503810,;ITGA2,splice_donor_variant,,ENST00000509960,;ITGA2,splice_donor_variant,,ENST00000510722,;ITGA2,splice_donor_variant,,ENST00000513685,;ITGA2,splice_donor_variant,,ENST00000509814,;	T	ENST00000296585	Transcript	splice_donor_variant	-/7869	1312/3546	438/1181				1		1	ITGA2	HGNC	HGNC:6137	protein_coding	YES	CCDS3957.1	ENSP00000296585	P17301		UPI0000169C36	NM_002203.3				11/29																		HIGH	1	SNV	1			1										PASS		rs1259129028	.												T	5	4	50	53060013	53060013	G	T	1	0	0	0	0	0	0	1	0	7782	1275	44	2		2	ITGA2	5	53060013	Splice_Site	SNP	G	C3N-00547_TP	9782942	53060013	128478246	209	15670											
RNF180	0	.	GRCh38	chr5	64214075	64214075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactttatatgaaatacataGtaagactactgcctattcca	15	13	4	9	0	0	2	0	1	0	1	1	2	1	2	2	0	3	1	2	0	8	9	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.749G>T	p.Ser250Ile	p.S250I	ENST00000389100	4/8	222	128	94	211	211	0	strelka-varscan-mutect	RNF180,missense_variant,p.Ser250Ile,ENST00000389100,NM_001113561.1;RNF180,missense_variant,p.Ser250Ile,ENST00000296615,NM_178532.3;RNF180,downstream_gene_variant,,ENST00000504296,;	T	ENST00000389100	Transcript	missense_variant	821/4906	749/1779	250/592	S/I	aGt/aTt		1		1	RNF180	HGNC	HGNC:27752	protein_coding	YES	CCDS47219.1	ENSP00000373752	Q86T96		UPI0000141201	NM_001113561.1	deleterious(0)		4/8																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	64214075	64214075	G	T	1	0	0	0	0	1	0	0	0	13641	1029	36	2		2	RNF180	5	64214075	Missense_Mutation	SNP	G	C3N-00547_TP	11154062	64214075	117324184	210	15671											
SREK1IP1	0	.	GRCh38	chr5	64724486	64724486	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccctttttttgatttactCtttttttcttttttcttttc	2	30	1	8	0	3	1	0	1	3	0	5	1	4	1	1	0	1	0	1	0	1	14	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.366G>C	p.Lys122Asn	p.K122N	ENST00000513458	5/5	100	94	6	76	76	0	strelka-mutect	SREK1IP1,missense_variant,p.Lys122Asn,ENST00000513458,NM_173829.3;SREK1IP1,downstream_gene_variant,,ENST00000495198,;	G	ENST00000513458	Transcript	missense_variant	534/6876	366/468	122/155	K/N	aaG/aaC		1		-1	SREK1IP1	HGNC	HGNC:26716	protein_coding	YES	CCDS34171.1	ENSP00000427401	Q8N9Q2		UPI000006EDBE	NM_173829.3	deleterious_low_confidence(0.01)		5/5		hmmpanther:PTHR31437,hmmpanther:PTHR31437:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs768199051	.												G	3	3	50	64724486	64724486	C	G	1	0	0	0	0	1	0	0	0	15501	912	32	4		4	SREK1IP1	5	64724486	Missense_Mutation	SNP	C	C3N-00547_TP	510411	64724486	116813773	211	15672											
IQGAP2	0	.	GRCh38	chr5	76671916	76671916	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacaagtcgctgattatcAacacaaaccctgtagaggtg	14	8	9	10	2	1	2	1	1	0	1	2	3	1	2	1	1	2	2	1	1	5	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.3001A>T	p.Asn1001Tyr	p.N1001Y	ENST00000274364	24/36	200	83	117	237	237	0	strelka-varscan-mutect	IQGAP2,missense_variant,p.Asn1001Tyr,ENST00000274364,NM_006633.3;IQGAP2,missense_variant,p.Asn951Tyr,ENST00000379730,NM_001285460.1;IQGAP2,missense_variant,p.Asn951Tyr,ENST00000505766,;IQGAP2,missense_variant,p.Asn497Tyr,ENST00000502745,NM_001285462.1;IQGAP2,missense_variant,p.Asn497Tyr,ENST00000396234,NM_001285461.1;IQGAP2,downstream_gene_variant,,ENST00000514001,;IQGAP2,non_coding_transcript_exon_variant,,ENST00000512383,;IQGAP2,non_coding_transcript_exon_variant,,ENST00000504558,;IQGAP2,upstream_gene_variant,,ENST00000504477,;IQGAP2,upstream_gene_variant,,ENST00000509741,;	T	ENST00000274364	Transcript	missense_variant	3298/5844	3001/4728	1001/1575	N/Y	Aac/Tac		1		1	IQGAP2	HGNC	HGNC:6111	protein_coding	YES	CCDS34188.1	ENSP00000274364	Q13576		UPI000020CB2C	NM_006633.3	deleterious(0.04)		24/36		PROSITE_profiles:PS50018,hmmpanther:PTHR14149:SF12,hmmpanther:PTHR14149,Gene3D:1.10.506.10,Pfam_domain:PF00616,SMART_domains:SM00323,Superfamily_domains:SSF48350																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	76671916	76671916	A	T	1	0	0	0	0	1	0	0	0	7721	130	5	4		4	IQGAP2	5	76671916	Missense_Mutation	SNP	A	C3N-00547_TP	11947430	76671916	104866343	212	15673											
MSH3	0	.	GRCh38	chr5	80654931	80654931	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccccagcgcccccagcTcccgccttcccgccccagct	3	4	8	26	4	0	0	0	0	0	0	2	0	2	0	9	0	3	2	9	0	0	1	rs1047489		C3N-00547_TP	C3N-00547_NB	T	T																c.204T>G	p.=	p.A68A	ENST00000265081	1/24	46	40	6	85	84	1	varscan-mutect	MSH3,synonymous_variant,p.=,ENST00000265081,NM_002439.4;DHFR,5_prime_UTR_variant,,ENST00000439211,NM_000791.3;DHFR,upstream_gene_variant,,ENST00000505337,;DHFR,upstream_gene_variant,,ENST00000511032,NM_001290357.1;DHFR,upstream_gene_variant,,ENST00000504396,NM_001290354.1;DHFR,upstream_gene_variant,,ENST00000513048,;MSH3,upstream_gene_variant,,ENST00000512531,;DHFR,upstream_gene_variant,,ENST00000513314,;DHFR,upstream_gene_variant,,ENST00000508282,;MTRNR2L2,upstream_gene_variant,,ENST00000604882,;	G	ENST00000265081	Transcript	synonymous_variant	284/4092	204/3414	68/1137	A	gcT/gcG	rs1047489	1		1	MSH3	HGNC	HGNC:7326	protein_coding	YES	CCDS34195.1	ENSP00000265081	P20585		UPI0000DBEE85	NM_002439.4			1/24		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1047489	.												G	2	3	50	80654931	80654931	T	G	1	0	0	0	0	0	0	0	1	9854	1538	54	5		5	MSH3	5	80654931	Silent	SNP	T	C3N-00547_TP	3983015	80654931	100883328	213	15674											
VCAN	0	.	GRCh38	chr5	83541619	83541619	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaattcatgtaaatatTgaagcgactttcaaaccatc	17	11	6	7	1	2	1	2	1	0	0	3	3	2	2	1	1	2	1	1	1	7	5	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.8616T>A	p.=	p.I2872I	ENST00000265077	8/15	195	114	81	222	221	1	strelka-varscan-mutect	VCAN,synonymous_variant,p.=,ENST00000265077,NM_004385.4;VCAN,synonymous_variant,p.=,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,non_coding_transcript_exon_variant,,ENST00000513899,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	A	ENST00000265077	Transcript	synonymous_variant	9181/12625	8616/10191	2872/3396	I	atT/atA		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4			8/15		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	83541619	83541619	T	A	1	0	0	0	0	0	0	0	1	17683	1800	63	4		4	VCAN	5	83541619	Silent	SNP	T	C3N-00547_TP	2886688	83541619	97996640	214	15675											
TSSK1B	0	.	GRCh38	chr5	113434225	113434225	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgcagaccatgatgtagagGatcacgcctaggctccagat	11	7	11	12	2	1	4	1	1	0	3	2	5	2	5	4	2	0	3	4	2	2	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.615C>A	p.=	p.I205I	ENST00000390666	1/1	173	99	74	235	235	0	strelka-varscan-mutect	TSSK1B,synonymous_variant,p.=,ENST00000390666,NM_032028.3;MCC,intron_variant,,ENST00000408903,NM_001085377.1;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000416046,;CTD-2201G3.1,upstream_gene_variant,,ENST00000510381,;	T	ENST00000390666	Transcript	synonymous_variant	807/2478	615/1104	205/367	I	atC/atA		1		-1	TSSK1B	HGNC	HGNC:14968	protein_coding	YES	CCDS4112.1	ENSP00000375081	Q9BXA7	A0ZT98	UPI000003C96E	NM_032028.3			1/1		PROSITE_profiles:PS50011,hmmpanther:PTHR24343:SF76,hmmpanther:PTHR24343,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW		SNV				1										PASS		.	.												T	2	4	50	113434225	113434225	G	T	1	0	0	0	0	0	0	0	1	17176	1164	41	2		2	TSSK1B	5	113434225	Silent	SNP	G	C3N-00547_TP	29892606	113434225	68104034	215	15676											
ISOC1	0	.	GRCh38	chr5	129112963	129112963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaattcagaatctaattaagGcgagtgctccagagtcgggt	13	10	11	7	2	2	2	1	0	1	2	4	3	3	2	1	2	1	1	1	2	4	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.859G>C	p.Ala287Pro	p.A287P	ENST00000173527	5/5	115	55	60	128	128	0	strelka-mutect	ISOC1,missense_variant,p.Ala287Pro,ENST00000173527,NM_016048.2;	C	ENST00000173527	Transcript	missense_variant	875/1940	859/897	287/298	A/P	Gcg/Ccg		1		1	ISOC1	HGNC	HGNC:24254	protein_coding	YES	CCDS43357.1	ENSP00000173527	Q96CN7		UPI0000070CF3	NM_016048.2	tolerated(0.15)		5/5		hmmpanther:PTHR14119:SF3,hmmpanther:PTHR14119,Gene3D:3.40.50.850,Superfamily_domains:SSF52499																	MODERATE	1	SNV	1			1										PASS		rs1448118799	.												C	3	2	50	129112963	129112963	G	C	1	0	0	0	0	1	0	0	0	7769	1203	42	4		4	ISOC1	5	129112963	Missense_Mutation	SNP	G	C3N-00547_TP	15678738	129112963	52425296	216	15677											
HINT1	0	.	GRCh38	chr5	131165143	131165143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatttccttgcggatgatCttcccaaagatcgtgtcgcc	7	13	10	11	3	1	2	0	1	1	1	5	3	3	3	3	2	1	1	3	2	2	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.63G>T	p.Lys21Asn	p.K21N	ENST00000304043	1/3	193	180	13	240	240	0	strelka-varscan-mutect	HINT1,missense_variant,p.Lys21Asn,ENST00000304043,NM_005340.6;HINT1,missense_variant,p.Lys21Asn,ENST00000508488,;HINT1,missense_variant,p.Lys21Asn,ENST00000506908,;HINT1,missense_variant,p.Lys21Asn,ENST00000513012,;HINT1,upstream_gene_variant,,ENST00000520028,;HINT1,intron_variant,,ENST00000506207,;HINT1,missense_variant,p.Lys21Asn,ENST00000511475,;HINT1,missense_variant,p.Lys21Asn,ENST00000508495,;HINT1,missense_variant,p.Lys21Asn,ENST00000513345,;HINT1,missense_variant,p.Lys21Asn,ENST00000504202,;	A	ENST00000304043	Transcript	missense_variant	343/1081	63/381	21/126	K/N	aaG/aaT		1		-1	HINT1	HGNC	HGNC:4912	protein_coding	YES	CCDS4147.1	ENSP00000304229	P49773		UPI000004F5CC	NM_005340.6	deleterious(0.02)		1/3		PROSITE_profiles:PS51084,hmmpanther:PTHR23089:SF3,hmmpanther:PTHR23089,Gene3D:3.30.428.10,Superfamily_domains:SSF54197,Prints_domain:PR00332																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	131165143	131165143	C	A	1	0	0	0	0	1	0	0	0	6999	912	32	2		2	HINT1	5	131165143	Missense_Mutation	SNP	C	C3N-00547_TP	2052180	131165143	50373116	217	15678											
VDAC1	0	.	GRCh38	chr5	133980802	133980802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtcactcgggattttgCagtctcaaaattcatctggt	8	14	10	9	1	4	0	3	0	2	0	6	1	4	1	0	3	1	1	0	3	2	3			C3N-00547_TP	C3N-00547_NB	C	C																c.478G>T	p.Ala160Ser	p.A160S	ENST00000265333	6/9	362	169	193	274	274	0	strelka-varscan-mutect	VDAC1,missense_variant,p.Ala160Ser,ENST00000265333,NM_003374.2;VDAC1,missense_variant,p.Ala160Ser,ENST00000395047,;VDAC1,missense_variant,p.Ala160Ser,ENST00000395044,;VDAC1,missense_variant,p.Ala160Ser,ENST00000425992,;VDAC1,non_coding_transcript_exon_variant,,ENST00000492324,;VDAC1,upstream_gene_variant,,ENST00000489906,;	A	ENST00000265333	Transcript	missense_variant	723/1953	478/852	160/283	A/S	Gca/Tca	COSM5204904	1		-1	VDAC1	HGNC	HGNC:12669	protein_coding	YES	CCDS4168.1	ENSP00000265333	P21796		UPI000004C7D8	NM_003374.2	tolerated(0.46)		6/9		Gene3D:2.40.160.10,Pfam_domain:PF01459,hmmpanther:PTHR11743,hmmpanther:PTHR11743:SF13											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	50	133980802	133980802	C	A	1	0	0	0	0	1	0	0	0	17691	710	25	2		2	VDAC1	5	133980802	Missense_Mutation	SNP	C	C3N-00547_TP	2815659	133980802	47557457	218	15679											
PCDHA9	0	.	GRCh38	chr5	140849923	140849923	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctgccacatcttcacGgtgtctgcgcgggacgctga	5	8	14	14	5	3	1	1	1	2	0	3	2	3	2	2	3	2	2	2	3	0	1	rs145904051		C3N-00547_TP	C3N-00547_NB	G	G																c.1428G>A	p.=	p.T476T	ENST00000532602	1/4	779	366	413	902	902	0	strelka-varscan-mutect	PCDHA9,synonymous_variant,p.=,ENST00000378122,NM_014005.4;PCDHA9,synonymous_variant,p.=,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.19,upstream_gene_variant,,ENST00000623320,;	A	ENST00000532602	Transcript	synonymous_variant	2461/6293	1428/2853	476/950	T	acG/acA	rs145904051	1		1	PCDHA9	HGNC	HGNC:8675	protein_coding	YES	CCDS54920.1	ENSP00000436042	Q9Y5H5		UPI00001273D1	NM_031857.1			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs145904051	.												A	2	1	50	140849923	140849923	G	A	1	0	0	0	0	0	0	0	1	11618	1103	39	1		1	PCDHA9	5	140849923	Silent	SNP	G	C3N-00547_TP	6869121	140849923	40688336	219	15680											
PCDHB9	0	.	GRCh38	chr5	141189085	141189085	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctacctggtgaccaaggtGgtggcggtggacggcgactc	6	7	18	10	3	0	1	0	1	0	0	1	3	0	2	2	8	1	1	2	8	2	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1767G>T	p.=	p.V589V	ENST00000316105	1/1	347	179	168	472	472	0	strelka-varscan-mutect	PCDHB9,synonymous_variant,p.=,ENST00000316105,NM_019119.4;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.3;PCDHB16,downstream_gene_variant,,ENST00000625044,;PCDHB9,downstream_gene_variant,,ENST00000624909,;CH17-140K24.5,downstream_gene_variant,,ENST00000623884,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,upstream_gene_variant,,ENST00000624089,;CH17-140K24.6,downstream_gene_variant,,ENST00000625144,;PCDHB9,downstream_gene_variant,,ENST00000623266,;CH17-140K24.5,downstream_gene_variant,,ENST00000623407,;	T	ENST00000316105	Transcript	synonymous_variant	1959/4415	1767/2394	589/797	V	gtG/gtT		1		1	PCDHB9	HGNC	HGNC:8694	protein_coding	YES	CCDS75328.1	ENSP00000478606	Q9Y5E1		UPI00005764A0	NM_019119.4			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF128,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW		SNV				1										PASS		.	.												T	2	4	50	141189085	141189085	G	T	1	0	0	0	0	0	0	0	1	11636	1335	47	2		2	PCDHB9	5	141189085	Silent	SNP	G	C3N-00547_TP	339162	141189085	40349174	220	15681											
PCDHB10	0	.	GRCh38	chr5	141193021	141193021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatttagactagaaagaGcacaggatccagatggagga	16	6	12	7	0	0	4	0	0	0	4	1	7	1	7	1	3	2	2	1	3	3	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.469G>T	p.Ala157Ser	p.A157S	ENST00000239446	1/1	324	158	166	330	329	1	strelka-varscan-mutect	PCDHB10,missense_variant,p.Ala157Ser,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,NM_019119.4;PCDHB9,downstream_gene_variant,,ENST00000624909,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.6,intron_variant,,ENST00000625144,;PCDHB9,downstream_gene_variant,,ENST00000623266,;CH17-140K24.5,downstream_gene_variant,,ENST00000623407,;	T	ENST00000239446	Transcript	missense_variant	669/3290	469/2403	157/800	A/S	Gca/Tca		1		1	PCDHB10	HGNC	HGNC:8681	protein_coding	YES	CCDS4252.1	ENSP00000239446	Q9UN67		UPI0000048F2E	NM_018930.3	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF54,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												T	3	4	50	141193021	141193021	G	T	1	0	0	0	0	1	0	0	0	11622	971	34	2		2	PCDHB10	5	141193021	Missense_Mutation	SNP	G	C3N-00547_TP	3936	141193021	40345238	221	15682											
PCDHGC3	0	.	GRCh38	chr5	141477934	141477934	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagggcacaatgcctggctCtcctacagtctcttgggatc	7	10	11	13	0	2	0	0	0	2	0	5	1	2	1	2	3	2	3	2	3	2	2			C3N-00547_TP	C3N-00547_NB	C	C																c.1818C>T	p.=	p.L606L	ENST00000308177	1/4	181	167	14	275	273	2	strelka-varscan-mutect	PCDHGC3,synonymous_variant,p.=,ENST00000308177,NM_002588.3;PCDHGC3,synonymous_variant,p.=,ENST00000611950,NM_032402.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB7,intron_variant,,ENST00000398594,NM_018927.3;PCDHGA12,intron_variant,,ENST00000252085,NM_003735.2;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA11,intron_variant,,ENST00000398587,NM_018914.2;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGC3,intron_variant,,ENST00000617641,NM_032403.2;PCDHGA11,intron_variant,,ENST00000518882,NM_032092.1;PCDHGC3,intron_variant,,ENST00000617222,;PCDHGC3,downstream_gene_variant,,ENST00000621008,;RN7SL68P,upstream_gene_variant,,ENST00000488078,;PCDHGC3,intron_variant,,ENST00000622656,;PCDHGC3,downstream_gene_variant,,ENST00000616230,;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000308177	Transcript	synonymous_variant	1932/4725	1818/2805	606/934	L	ctC/ctT	COSM4712655,COSM4712656	1		1	PCDHGC3	HGNC	HGNC:8716	protein_coding	YES	CCDS4261.1	ENSP00000312070	Q9UN70		UPI000006F34F	NM_002588.3			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF70,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	50	141477934	141477934	C	T	1	0	0	0	0	0	0	0	1	11656	900	32	3		3	PCDHGC3	5	141477934	Silent	SNP	C	C3N-00547_TP	284913	141477934	40060325	222	15683											
SLC36A2	0	.	GRCh38	chr5	151333310	151333310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taccagtggcaaccggctggGgtctgggatttcctaaagaa	10	9	13	9	1	1	1	0	0	1	1	2	2	2	2	3	5	2	2	3	5	5	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.757C>A	p.Pro253Thr	p.P253T	ENST00000335244	7/10	372	177	195	464	463	1	strelka-varscan-mutect	SLC36A2,missense_variant,p.Pro253Thr,ENST00000335244,NM_181776.2;SLC36A2,missense_variant,p.Pro253Thr,ENST00000521967,;SLC36A2,missense_variant,p.Pro6Thr,ENST00000523044,;SLC36A2,3_prime_UTR_variant,,ENST00000518617,;SLC36A2,3_prime_UTR_variant,,ENST00000518280,;	T	ENST00000335244	Transcript	missense_variant	887/3421	757/1452	253/483	P/T	Ccc/Acc		1		-1	SLC36A2	HGNC	HGNC:18762	protein_coding	YES	CCDS4315.1	ENSP00000334223	Q495M3		UPI000020D008	NM_181776.2	tolerated(0.16)		7/10		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF185																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	151333310	151333310	G	T	1	0	0	0	0	1	0	0	0	14872	1232	43	2		2	SLC36A2	5	151333310	Missense_Mutation	SNP	G	C3N-00547_TP	9855376	151333310	30204949	223	15684											
FAT2	0	.	GRCh38	chr5	151554509	151554509	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccaggtctgaagccacCagcctgtacacaggcccagg	10	6	10	15	0	2	1	1	1	1	0	3	1	3	1	5	3	3	1	5	3	2	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.3798G>T	p.=	p.L1266L	ENST00000261800	4/23	326	150	176	423	423	0	strelka-varscan-mutect	FAT2,synonymous_variant,p.=,ENST00000261800,NM_001447.2;	A	ENST00000261800	Transcript	synonymous_variant	3811/14534	3798/13050	1266/4349	L	ctG/ctT		1		-1	FAT2	HGNC	HGNC:3596	protein_coding	YES	CCDS4317.1	ENSP00000261800	Q9NYQ8		UPI0000055B22	NM_001447.2			4/23		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	151554509	151554509	C	A	1	0	0	0	0	0	0	0	1	5550	581	21	2		2	FAT2	5	151554509	Silent	SNP	C	C3N-00547_TP	221199	151554509	29983750	224	15685											
GLRA1	0	.	GRCh38	chr5	151859890	151859890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgttggcaaagaacaggtcaGgtttccagatggagtccagc	11	8	13	9	1	1	2	1	0	0	2	3	3	3	3	2	4	2	3	2	4	2	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.371C>G	p.Pro124Arg	p.P124R	ENST00000455880	4/9	715	656	59	722	722	0	strelka-varscan-mutect	GLRA1,missense_variant,p.Pro124Arg,ENST00000274576,NM_000171.3,NM_001292000.1;GLRA1,missense_variant,p.Pro124Arg,ENST00000455880,NM_001146040.1;GLRA1,non_coding_transcript_exon_variant,,ENST00000471351,;GLRA1,3_prime_UTR_variant,,ENST00000462581,;	C	ENST00000455880	Transcript	missense_variant	658/1707	371/1374	124/457	P/R	cCt/cGt		1		-1	GLRA1	HGNC	HGNC:4326	protein_coding	YES	CCDS54942.1	ENSP00000411593	P23415		UPI0000DA6BF2	NM_001146040.1	deleterious(0)		4/9		hmmpanther:PTHR18945:SF213,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR00252																	MODERATE	1	SNV	1			1										PASS		rs1246926244	.												C	3	2	50	151859890	151859890	G	C	1	0	0	0	0	1	0	0	0	6333	1000	35	4		4	GLRA1	5	151859890	Missense_Mutation	SNP	G	C3N-00547_TP	305381	151859890	29678369	225	15686											
HAVCR2	0	.	GRCh38	chr5	157106843	157106843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttgccacattcaaacaCaggacaggctcctttgcccc	10	8	7	16	1	1	0	1	0	0	0	2	1	2	1	4	2	3	2	4	2	1	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.178G>A	p.Val60Met	p.V60M	ENST00000307851	2/7	216	115	101	254	254	0	strelka-varscan-mutect	HAVCR2,missense_variant,p.Val60Met,ENST00000307851,NM_032782.4;HAVCR2,missense_variant,p.Val60Met,ENST00000522593,;HAVCR2,5_prime_UTR_variant,,ENST00000524219,;CTB-120L21.1,intron_variant,,ENST00000517708,;HAVCR2,non_coding_transcript_exon_variant,,ENST00000517358,;HAVCR2,non_coding_transcript_exon_variant,,ENST00000522902,;HAVCR2,non_coding_transcript_exon_variant,,ENST00000521665,;	T	ENST00000307851	Transcript	missense_variant	909/2907	178/906	60/301	V/M	Gtg/Atg		1		-1	HAVCR2	HGNC	HGNC:18437	protein_coding	YES	CCDS4333.1	ENSP00000312002	Q8TDQ0		UPI000011AAFA	NM_032782.4	tolerated(0.16)		2/7		PROSITE_profiles:PS50835,hmmpanther:PTHR15498:SF45,hmmpanther:PTHR15498,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	157106843	157106843	C	T	1	0	0	0	0	1	0	0	0	6860	478	17	3		3	HAVCR2	5	157106843	Missense_Mutation	SNP	C	C3N-00547_TP	5246953	157106843	24431416	226	15687											
GABRA1	0	.	GRCh38	chr5	161895738	161895739	+	Frame_Shift_Ins	INS	-	-	A																															ctccctaaggtggcttatgcINSaacagctatggattggttta																								novel		C3N-00547_TP	C3N-00547_NB	-	-																c.931dupA	p.Thr311AsnfsTer20	p.T311Nfs*20	ENST00000393943	9/10	309	136	173	355	355	0	sindel-varindel-pindel	GABRA1,frameshift_variant,p.Thr311AsnfsTer20,ENST00000393943,NM_001127644.1,NM_001127648.1;GABRA1,frameshift_variant,p.Thr311AsnfsTer20,ENST00000428797,NM_001127643.1;GABRA1,frameshift_variant,p.Thr326AsnfsTer20,ENST00000638159,;GABRA1,frameshift_variant,p.Thr311AsnfsTer20,ENST00000437025,NM_001127645.1;GABRA1,frameshift_variant,p.Thr311AsnfsTer20,ENST00000638112,;GABRA1,frameshift_variant,p.Thr311AsnfsTer20,ENST00000636573,;GABRA1,frameshift_variant,p.Thr311AsnfsTer20,ENST00000023897,NM_000806.5;GABRA1,frameshift_variant,p.Thr311AsnfsTer20,ENST00000637827,;GABRA1,frameshift_variant,p.Thr311AsnfsTer20,ENST00000635880,;GABRA1,downstream_gene_variant,,ENST00000634335,;GABRA1,non_coding_transcript_exon_variant,,ENST00000636408,;GABRA1,3_prime_UTR_variant,,ENST00000637044,;GABRA1,3_prime_UTR_variant,,ENST00000636340,;GABRA1,downstream_gene_variant,,ENST00000519542,;	A	ENST00000393943	Transcript	frameshift_variant	1712-1713/4686	929-930/1371	310/456	A/AX	gca/gcAa		1		1	GABRA1	HGNC	HGNC:4075	protein_coding	YES	CCDS4357.1	ENSP00000377517	P14867		UPI000012AF95	NM_001127644.1,NM_001127648.1			9/10		Gene3D:1.20.58.390,Pfam_domain:PF02932,Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF514,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860																	HIGH	1	insertion	1	2		1										PASS		.	.												A	7	5	50	161895738	161895738	-	A	1	0	1	1	0	0	0	0	0	6031	710	25	0		0	GABRA1	5	161895738	Frame_Shift_Ins	INS	-	C3N-00547_TP	4788895	161895738	19642521	227	15688											
HRH2	0	.	GRCh38	chr5	175683891	175683891	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagaggatcaatcacattAgctcctggaaggcagccacc	13	6	9	13	0	2	1	2	0	0	1	3	3	3	3	4	3	2	2	4	3	4	1	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.658A>T	p.Ser220Cys	p.S220C	ENST00000377291	2/3	411	195	216	433	433	0	strelka-varscan-mutect	HRH2,missense_variant,p.Ser220Cys,ENST00000636584,;HRH2,missense_variant,p.Ser220Cys,ENST00000377291,NM_001131055.1;HRH2,missense_variant,p.Ser220Cys,ENST00000231683,NM_022304.2;HRH2,missense_variant,p.Ser220Cys,ENST00000624694,;	T	ENST00000377291	Transcript	missense_variant	1309/2561	658/1194	220/397	S/C	Agc/Tgc		1		1	HRH2	HGNC	HGNC:5183	protein_coding	YES	CCDS47344.1	ENSP00000366506	P25021		UPI00001B2326	NM_001131055.1	deleterious(0.01)		2/3		PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF280,hmmpanther:PTHR24249,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00531																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	175683891	175683891	A	T	1	0	0	0	0	1	0	0	0	7251	420	15	4		4	HRH2	5	175683891	Missense_Mutation	SNP	A	C3N-00547_TP	13788153	175683891	5854368	228	15689											
SERPINB6	0	.	GRCh38	chr6	2948678	2948678	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccattctacgaacttctCgtaagtgagttctttctcca	8	15	6	12	3	4	1	0	1	4	0	7	2	5	1	2	0	2	2	2	0	3	6	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.808G>T	p.Glu270Ter	p.E270*	ENST00000612421	7/7	189	119	70	195	195	0	strelka-varscan-mutect	SERPINB6,stop_gained,p.Glu251Ter,ENST00000380520,;SERPINB6,stop_gained,p.Glu255Ter,ENST00000616722,NM_001195291.2;SERPINB6,stop_gained,p.Glu251Ter,ENST00000335686,NM_001297699.1,NM_001271824.1,NM_004568.5,NM_001297700.1;SERPINB6,stop_gained,p.Glu270Ter,ENST00000612421,NM_001271823.1;SERPINB6,stop_gained,p.Glu251Ter,ENST00000380524,NM_001271825.1;SERPINB6,stop_gained,p.Glu251Ter,ENST00000380546,;SERPINB6,stop_gained,p.Glu251Ter,ENST00000380529,NM_001271822.1;SERPINB6,stop_gained,p.Glu251Ter,ENST00000380539,;	A	ENST00000612421	Transcript	stop_gained	1052/1570	808/1188	270/395	E/*	Gag/Tag		1		-1	SERPINB6	HGNC	HGNC:8950	protein_coding	YES	CCDS75387.1	ENSP00000484343		A0A087X1N8	UPI000013FEB1	NM_001271823.1			7/7		hmmpanther:PTHR11461:SF135,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574																	HIGH	1	SNV	2			1										PASS		rs1348902179	.												A	4	1	50	2948678	2948678	C	A	1	0	0	0	0	0	1	0	0	14381	893	31	1		1	SERPINB6	6	2948678	Nonsense_Mutation	SNP	C	C3N-00547_TP		2948678	167857301	229	15690											
MYLIP	0	.	GRCh38	chr6	16145233	16145233	+	Missense_Mutation	SNP	G	G	A																															aaggaagccatgctgtgcatGgtgtgctgcgaggaggagat																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1164G>A	p.Met388Ile	p.M388I	ENST00000356840	6/7	113	68	45	108	108	0	strelka-varscan-mutect	MYLIP,missense_variant,p.Met207Ile,ENST00000349606,;MYLIP,missense_variant,p.Met388Ile,ENST00000356840,NM_013262.3;MIR4639,downstream_gene_variant,,ENST00000584938,;	A	ENST00000356840	Transcript	missense_variant	1362/1666	1164/1338	388/445	M/I	atG/atA		1		1	MYLIP	HGNC	HGNC:21155	protein_coding	YES	CCDS4536.1	ENSP00000349298	Q8WY64		UPI000006CDE0	NM_013262.3	tolerated(0.08)		6/7		PROSITE_profiles:PS50089,hmmpanther:PTHR23280:SF13,hmmpanther:PTHR23280,Gene3D:3.30.40.10,Pfam_domain:PF13920,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	16145233	16145233	G	A	1	0	0	0	0	1	0	0	0	10055	1348	47	3		3	MYLIP	6	16145233	Missense_Mutation	SNP	G	C3N-00547_TP	13196555	16145233	154660746	230	15691	334	2									
MYLIP	0	.	GRCh38	chr6	16145234	16145234	+	Missense_Mutation	SNP	G	G	T																															aggaagccatgctgtgcatgGtgtgctgcgaggaggagatc																								rs779354154		C3N-00547_TP	C3N-00547_NB	G	G																c.1165G>T	p.Val389Leu	p.V389L	ENST00000356840	6/7	112	66	46	109	109	0	strelka-varscan-mutect	MYLIP,missense_variant,p.Val208Leu,ENST00000349606,;MYLIP,missense_variant,p.Val389Leu,ENST00000356840,NM_013262.3;MIR4639,downstream_gene_variant,,ENST00000584938,;	T	ENST00000356840	Transcript	missense_variant	1363/1666	1165/1338	389/445	V/L	Gtg/Ttg	rs779354154	1		1	MYLIP	HGNC	HGNC:21155	protein_coding	YES	CCDS4536.1	ENSP00000349298	Q8WY64		UPI000006CDE0	NM_013262.3	tolerated(0.5)		6/7		PROSITE_profiles:PS50089,hmmpanther:PTHR23280:SF13,hmmpanther:PTHR23280,Gene3D:3.30.40.10,Pfam_domain:PF13920,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		rs779354154	.												T	3	4	50	16145234	16145234	G	T	1	0	0	0	0	1	0	0	0	10055	1261	44	2		2	MYLIP	6	16145234	Missense_Mutation	SNP	G	C3N-00547_TP	1	16145234	154660745	231	15692	334	2									
SLC17A1	0	.	GRCh38	chr6	25819140	25819140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacaagtaggacaataaaggGtcccagcaaaaaccctaatc	18	5	7	11	0	0	0	0	0	0	0	2	1	1	1	2	2	2	2	2	2	8	3	rs149396857		C3N-00547_TP	C3N-00547_NB	G	G																c.544C>T	p.Pro182Ser	p.P182S	ENST00000244527	6/13	102	70	32	116	116	0	strelka-varscan-mutect	SLC17A1,missense_variant,p.Pro182Ser,ENST00000244527,NM_005074.3;SLC17A1,missense_variant,p.Pro182Ser,ENST00000476801,;SLC17A1,missense_variant,p.Pro182Ser,ENST00000468082,;SLC17A1,missense_variant,p.Pro182Ser,ENST00000377886,;	A	ENST00000244527	Transcript	missense_variant	660/1844	544/1404	182/467	P/S	Ccc/Tcc	rs149396857	1		-1	SLC17A1	HGNC	HGNC:10929	protein_coding	YES	CCDS4565.1	ENSP00000244527	Q14916		UPI00000719C0	NM_005074.3	tolerated(1)		6/13		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF26,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00894,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		rs149396857	.												A	3	1	50	25819140	25819140	G	A	1	0	0	0	0	1	0	0	0	14681	1261	44	3		3	SLC17A1	6	25819140	Missense_Mutation	SNP	G	C3N-00547_TP	9673906	25819140	144986839	232	15693											
OR2B2	0	.	GRCh38	chr6	27911702	27911702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgtcacgggtattagaagGaatagcacactgatgaagaa	16	8	12	5	1	1	4	1	2	0	2	1	5	1	5	0	2	1	2	0	2	7	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.618C>A	p.Phe206Leu	p.F206L	ENST00000303324	1/1	74	45	29	97	97	0	strelka-varscan-mutect	OR2B2,missense_variant,p.Phe206Leu,ENST00000303324,NM_033057.2;	T	ENST00000303324	Transcript	missense_variant	695/1212	618/1074	206/357	F/L	ttC/ttA		1		-1	OR2B2	HGNC	HGNC:13966	protein_coding	YES	CCDS4641.1	ENSP00000304419	Q9GZK3	A0A126GWD0	UPI000004187A	NM_033057.2	tolerated(0.14)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF254,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	50	27911702	27911702	G	T	1	0	0	0	0	1	0	0	0	11068	1165	41	2		2	OR2B2	6	27911702	Missense_Mutation	SNP	G	C3N-00547_TP	2092562	27911702	142894277	233	15694											
ZSCAN16	0	.	GRCh38	chr6	28125685	28125685	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacaccaaggagcagatttTagacctgctggtgctagaac	12	8	10	11	0	0	3	0	0	0	3	0	4	0	4	3	2	4	3	3	2	4	3	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.242T>C	p.Leu81Ser	p.L81S	ENST00000340487	2/4	216	201	15	259	259	0	strelka-varscan-mutect	ZSCAN16,missense_variant,p.Leu81Ser,ENST00000340487,NM_025231.1;ZSCAN16-AS1,non_coding_transcript_exon_variant,,ENST00000600652,;ZSCAN16-AS1,intron_variant,,ENST00000602810,;	C	ENST00000340487	Transcript	missense_variant	391/1328	242/1047	81/348	L/S	tTa/tCa		1		1	ZSCAN16	HGNC	HGNC:20813	protein_coding	YES	CCDS4644.1	ENSP00000366527	Q9H4T2		UPI000013A46E	NM_025231.1	deleterious(0)		2/4		PROSITE_profiles:PS50804,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF52,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	28125685	28125685	T	C	1	0	0	0	0	1	0	0	0	18823	1764	61	5		5	ZSCAN16	6	28125685	Missense_Mutation	SNP	T	C3N-00547_TP	213983	28125685	142680294	234	15695											
TRIM27	0	.	GRCh38	chr6	28904351	28904351	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagggcagtcattggggaggTaagagcccaatattctttcc	10	11	12	8	0	2	1	1	0	1	1	3	2	3	2	2	4	1	2	2	4	4	6	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.1261A>G	p.Thr421Ala	p.T421A	ENST00000377199	8/8	137	119	18	131	131	0	strelka-varscan-mutect	TRIM27,missense_variant,p.Thr421Ala,ENST00000377199,NM_006510.4;TRIM27,missense_variant,p.Thr156Ala,ENST00000414543,;TRIM27,intron_variant,,ENST00000377194,;TRIM27,downstream_gene_variant,,ENST00000467742,;TRIM27,non_coding_transcript_exon_variant,,ENST00000481474,;	C	ENST00000377199	Transcript	missense_variant	1618/2967	1261/1542	421/513	T/A	Acc/Gcc		1		-1	TRIM27	HGNC	HGNC:9975	protein_coding	YES	CCDS4654.1	ENSP00000366404	P14373		UPI0000000DCE	NM_006510.4	deleterious(0.01)		8/8		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF362,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	28904351	28904351	T	C	1	0	0	0	0	1	0	0	0	16990	1638	57	5		5	TRIM27	6	28904351	Missense_Mutation	SNP	T	C3N-00547_TP	778666	28904351	141901628	235	15696											
FKBPL	0	.	GRCh38	chr6	32129752	32129752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctgagaggtgtccttttctCcaattgtattgactggtggc	6	15	12	8	0	1	2	0	2	1	1	3	3	2	2	2	3	0	2	2	3	2	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.29G>C	p.Gly10Ala	p.G10A	ENST00000375156	2/2	376	352	24	331	331	0	strelka-varscan-mutect	FKBPL,missense_variant,p.Gly10Ala,ENST00000375156,NM_022110.3;ATF6B,upstream_gene_variant,,ENST00000375201,NM_001136153.1;ATF6B,upstream_gene_variant,,ENST00000375203,NM_004381.4;ATF6B,upstream_gene_variant,,ENST00000468502,;ATF6B,upstream_gene_variant,,ENST00000495579,;ATF6B,upstream_gene_variant,,ENST00000485314,;	G	ENST00000375156	Transcript	missense_variant	300/1345	29/1050	10/349	G/A	gGa/gCa		1		-1	FKBPL	HGNC	HGNC:13949	protein_coding	YES	CCDS4738.1	ENSP00000364298	Q9UIM3	A0A024RCQ6	UPI0000036B85	NM_022110.3	deleterious_low_confidence(0.02)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	32129752	32129752	C	G	1	0	0	0	0	1	0	0	0	5779	855	30	4		4	FKBPL	6	32129752	Missense_Mutation	SNP	C	C3N-00547_TP	3225401	32129752	138676227	236	15697											
ITPR3	0	.	GRCh38	chr6	33664885	33664885	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcaggaactcgtacgtccgGctgcggcacctctgcaccaa	8	7	11	15	4	1	0	0	0	1	0	3	1	2	1	3	3	5	5	3	3	3	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1164G>T	p.=	p.R388R	ENST00000374316	13/59	276	232	44	244	243	1	strelka-varscan-mutect	ITPR3,synonymous_variant,p.=,ENST00000374316,;ITPR3,synonymous_variant,p.=,ENST00000605930,NM_002224.3;	T	ENST00000374316	Transcript	synonymous_variant	2224/9870	1164/8016	388/2671	R	cgG/cgT		1		1	ITPR3	HGNC	HGNC:6182	protein_coding	YES	CCDS4783.1	ENSP00000363435	Q14573		UPI000013CB74				13/59		PROSITE_profiles:PS50919,hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715,Gene3D:2.80.10.50,Pfam_domain:PF02815,SMART_domains:SM00472,Superfamily_domains:SSF82109																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	50	33664885	33664885	G	T	1	0	0	0	0	0	0	0	1	7828	1190	42	2		2	ITPR3	6	33664885	Silent	SNP	G	C3N-00547_TP	1535133	33664885	137141094	237	15698											
PNPLA1	0	.	GRCh38	chr6	36307673	36307673	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaccagaaaaggcttccCaagacattcgggatccaaaa	15	6	9	11	1	0	2	0	0	0	2	3	3	2	3	3	3	0	2	3	3	5	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1556C>A	p.Pro519Gln	p.P519Q	ENST00000394571	8/8	129	111	18	176	176	0	strelka-varscan-mutect	PNPLA1,missense_variant,p.Pro424Gln,ENST00000388715,NM_173676.2;PNPLA1,missense_variant,p.Pro428Gln,ENST00000636260,;PNPLA1,missense_variant,p.Pro520Gln,ENST00000457797,;PNPLA1,missense_variant,p.Pro519Gln,ENST00000394571,NM_001145717.1;PNPLA1,missense_variant,p.Pro433Gln,ENST00000312917,NM_001145716.2;	A	ENST00000394571	Transcript	missense_variant	1556/1599	1556/1599	519/532	P/Q	cCa/cAa		1		1	PNPLA1	HGNC	HGNC:21246	protein_coding	YES	CCDS54997.1	ENSP00000378072	Q8N8W4	B8XXQ3	UPI000189560E	NM_001145717.1	tolerated_low_confidence(0.21)		8/8		hmmpanther:PTHR12406,hmmpanther:PTHR12406:SF23																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	36307673	36307673	C	A	1	0	0	0	0	1	0	0	0	12272	594	21	2		2	PNPLA1	6	36307673	Missense_Mutation	SNP	C	C3N-00547_TP	2642788	36307673	134498306	238	15699											
ABCC10	0	.	GRCh38	chr6	43432908	43432908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgttgctctccctactgGtgggcttcctggaagagggg	4	11	14	12	0	1	1	0	0	1	1	3	2	2	2	3	5	2	3	3	5	2	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.928G>T	p.Val310Leu	p.V310L	ENST00000372530	3/22	247	193	54	318	317	1	strelka-varscan-mutect	ABCC10,missense_variant,p.Val267Leu,ENST00000244533,NM_033450.2;ABCC10,missense_variant,p.Val310Leu,ENST00000372530,NM_001198934.1;ABCC10,intron_variant,,ENST00000372515,;MIR6780B,upstream_gene_variant,,ENST00000610307,;ABCC10,intron_variant,,ENST00000443426,;ABCC10,downstream_gene_variant,,ENST00000502549,;ABCC10,upstream_gene_variant,,ENST00000463024,;	T	ENST00000372530	Transcript	missense_variant	1143/5033	928/4479	310/1492	V/L	Gtg/Ttg		1		1	ABCC10	HGNC	HGNC:52	protein_coding	YES	CCDS56430.1	ENSP00000361608	Q5T3U5	A0A024RD21	UPI000004A062	NM_001198934.1	deleterious(0)		3/22		Low_complexity_(Seg):seg,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF235,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	50	43432908	43432908	G	T	1	0	0	0	0	1	0	0	0	54	1261	44	2		2	ABCC10	6	43432908	Missense_Mutation	SNP	G	C3N-00547_TP	7125235	43432908	127373071	239	15700											
POLR1C	0	.	GRCh38	chr6	43521015	43521015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagaagctaaagaaggttGtgaggcttgcccgggttcga	11	9	15	6	2	0	3	0	2	0	2	1	5	0	3	1	3	2	4	1	3	4	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.889G>T	p.Val297Leu	p.V297L	ENST00000372389	8/9	469	374	95	525	525	0	strelka-varscan-mutect	POLR1C,missense_variant,p.Val297Leu,ENST00000372389,NM_203290.2;POLR1C,missense_variant,p.Val297Leu,ENST00000304004,;POLR1C,missense_variant,p.Val247Leu,ENST00000372344,;XPO5,downstream_gene_variant,,ENST00000265351,NM_020750.2;YIPF3,upstream_gene_variant,,ENST00000372422,NM_015388.3;YIPF3,upstream_gene_variant,,ENST00000506469,;YIPF3,upstream_gene_variant,,ENST00000503972,;XPO5,downstream_gene_variant,,ENST00000455285,;POLR1C,downstream_gene_variant,,ENST00000428025,;YIPF3,upstream_gene_variant,,ENST00000511831,;POLR1C,downstream_gene_variant,,ENST00000423780,;RP3-337H4.9,upstream_gene_variant,,ENST00000607571,;POLR1C,non_coding_transcript_exon_variant,,ENST00000455605,;POLR1C,non_coding_transcript_exon_variant,,ENST00000481352,;XPO5,downstream_gene_variant,,ENST00000455854,;YIPF3,upstream_gene_variant,,ENST00000460547,;YIPF3,upstream_gene_variant,,ENST00000510102,;YIPF3,upstream_gene_variant,,ENST00000490447,;YIPF3,upstream_gene_variant,,ENST00000416380,;POLR1C,downstream_gene_variant,,ENST00000488601,;XPO5,downstream_gene_variant,,ENST00000488195,;YIPF3,upstream_gene_variant,,ENST00000455768,;YIPF3,upstream_gene_variant,,ENST00000502714,;YIPF3,upstream_gene_variant,,ENST00000460903,;XPO5,downstream_gene_variant,,ENST00000486936,;POLR1C,downstream_gene_variant,,ENST00000512472,;	T	ENST00000372389	Transcript	missense_variant	977/1355	889/1041	297/346	V/L	Gtg/Ttg		1		1	POLR1C	HGNC	HGNC:20194	protein_coding	YES	CCDS4901.1	ENSP00000361465	O15160		UPI00001345BC	NM_203290.2	deleterious(0)		8/9		hmmpanther:PTHR11800:SF13,hmmpanther:PTHR11800,Gene3D:3.30.1360.10,Pfam_domain:PF01193,SMART_domains:SM00662,Superfamily_domains:SSF55257																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	43521015	43521015	G	T	1	0	0	0	0	1	0	0	0	12321	1377	48	2		2	POLR1C	6	43521015	Missense_Mutation	SNP	G	C3N-00547_TP	88107	43521015	127284964	240	15701											
RCAN2	0	.	GRCh38	chr6	46456838	46456838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaagtcagtgattgcttGaaaggcttcttctgcaaaac	12	13	9	7	0	3	3	1	3	2	0	3	3	3	3	0	1	3	3	0	1	4	5	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.139C>A	p.Gln47Lys	p.Q47K	ENST00000371374	2/5	281	237	44	356	355	1	strelka-varscan-mutect	RCAN2,missense_variant,p.Gln47Lys,ENST00000371374,NM_001251974.1;RCAN2,missense_variant,p.Gln47Lys,ENST00000306764,NM_001251973.1;	T	ENST00000371374	Transcript	missense_variant	331/3327	139/732	47/243	Q/K	Caa/Aaa		1		-1	RCAN2	HGNC	HGNC:3041	protein_coding	YES	CCDS59023.1	ENSP00000360425	Q14206		UPI00001AEE48	NM_001251974.1	tolerated(0.3)		2/5		hmmpanther:PTHR10300,hmmpanther:PTHR10300:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	46456838	46456838	G	T	1	0	0	0	0	1	0	0	0	13338	1299	45	2		2	RCAN2	6	46456838	Missense_Mutation	SNP	G	C3N-00547_TP	2935823	46456838	124349141	241	15702											
RCAN2	0	.	GRCh38	chr6	46456921	46456921	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcctccatcttcagggAcgtgtccctgctgccctggg	6	10	11	14	1	2	0	1	0	1	0	5	1	5	1	4	2	2	1	4	2	1	1	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.56T>A	p.Val19Asp	p.V19D	ENST00000371374	2/5	190	141	49	288	288	0	strelka-varscan-mutect	RCAN2,missense_variant,p.Val19Asp,ENST00000371374,NM_001251974.1;RCAN2,missense_variant,p.Val19Asp,ENST00000306764,NM_001251973.1;	T	ENST00000371374	Transcript	missense_variant	248/3327	56/732	19/243	V/D	gTc/gAc		1		-1	RCAN2	HGNC	HGNC:3041	protein_coding	YES	CCDS59023.1	ENSP00000360425	Q14206		UPI00001AEE48	NM_001251974.1	deleterious_low_confidence(0.01)		2/5		hmmpanther:PTHR10300,hmmpanther:PTHR10300:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	46456921	46456921	A	T	1	0	0	0	0	1	0	0	0	13338	275	10	4		4	RCAN2	6	46456921	Missense_Mutation	SNP	A	C3N-00547_TP	83	46456921	124349058	242	15703											
PKHD1	0	.	GRCh38	chr6	51659583	51659583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaaccagagtgggtggaaTaaaactttcccctaagaaga	15	8	10	8	0	0	4	0	1	0	3	1	5	1	5	3	2	2	0	3	2	6	3	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.10543A>G	p.Ile3515Val	p.I3515V	ENST00000371117	61/67	293	237	56	342	342	0	strelka-varscan-mutect	PKHD1,missense_variant,p.Ile3515Val,ENST00000371117,NM_138694.3;	C	ENST00000371117	Transcript	missense_variant	10819/16282	10543/12225	3515/4074	I/V	Att/Gtt		1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3	tolerated(0.49)		61/67		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF299																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	51659583	51659583	T	C	1	0	0	0	0	1	0	0	0	12067	1406	49	5		5	PKHD1	6	51659583	Missense_Mutation	SNP	T	C3N-00547_TP	5202662	51659583	119146396	243	15704											
TINAG	0	.	GRCh38	chr6	54351383	54351383	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgaaagaaatcatgcaaaAtggaccagttcaaggtaagc	19	7	9	6	0	2	2	2	1	0	1	2	3	2	3	1	2	2	3	1	2	7	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1112A>T	p.Asn371Ile	p.N371I	ENST00000259782	8/11	98	81	17	199	199	0	strelka-varscan-mutect	TINAG,missense_variant,p.Asn371Ile,ENST00000259782,NM_014464.3;	T	ENST00000259782	Transcript	missense_variant	1208/1754	1112/1431	371/476	N/I	aAt/aTt		1		1	TINAG	HGNC	HGNC:14599	protein_coding	YES	CCDS4955.1	ENSP00000259782	Q9UJW2		UPI000013D078	NM_014464.3	deleterious(0)		8/11		Gene3D:3.90.70.10,Pfam_domain:PF00112,hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF274,SMART_domains:SM00645,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	54351383	54351383	A	T	1	0	0	0	0	1	0	0	0	16362	101	4	4		4	TINAG	6	54351383	Missense_Mutation	SNP	A	C3N-00547_TP	2691800	54351383	116454596	244	15705											
COL21A1	0	.	GRCh38	chr6	56069105	56069105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctggggaacccgttgCtcctggttctccctatgtaa	5	14	9	13	1	2	0	0	0	2	0	5	1	3	1	4	3	2	4	4	3	3	5	rs757963308		C3N-00547_TP	C3N-00547_NB	C	C																c.2032G>T	p.Ala678Ser	p.A678S	ENST00000244728	22/30	121	92	29	212	212	0	strelka-varscan-mutect	COL21A1,missense_variant,p.Ala678Ser,ENST00000244728,NM_001318751.1,NM_030820.3;COL21A1,missense_variant,p.Ala675Ser,ENST00000370819,NM_001318752.1;COL21A1,missense_variant,p.Ala677Ser,ENST00000535941,;COL21A1,non_coding_transcript_exon_variant,,ENST00000467045,;COL21A1,upstream_gene_variant,,ENST00000467216,;COL21A1,3_prime_UTR_variant,,ENST00000488912,;COL21A1,non_coding_transcript_exon_variant,,ENST00000461489,;	A	ENST00000244728	Transcript	missense_variant	2430/4339	2032/2874	678/957	A/S	Gca/Tca	rs757963308	1		-1	COL21A1	HGNC	HGNC:17025	protein_coding	YES	CCDS55025.1	ENSP00000244728	Q96P44	A0A158RFW1	UPI0000071DFE	NM_001318751.1,NM_030820.3	tolerated(0.68)		22/30		hmmpanther:PTHR24023																	MODERATE	1	SNV	1			1										PASS		rs757963308	.												A	3	1	50	56069105	56069105	C	A	1	0	0	0	0	1	0	0	0	3468	797	28	2		2	COL21A1	6	56069105	Missense_Mutation	SNP	C	C3N-00547_TP	1717722	56069105	114736874	245	15706											
EYS	0	.	GRCh38	chr6	64591853	64591853	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctgcggaagaaagaagActgtgttttgctgaaagctc	13	10	11	7	1	1	4	0	1	1	3	2	5	1	5	0	1	3	3	0	1	4	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.4014T>A	p.Ser1338Arg	p.S1338R	ENST00000370621	26/44	135	108	27	134	134	0	strelka-varscan-mutect	EYS,missense_variant,p.Ser1338Arg,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Ser1338Arg,ENST00000370621,NM_001292009.1;EYS,downstream_gene_variant,,ENST00000330816,;	T	ENST00000370621	Transcript	missense_variant	4541/10485	4014/9498	1338/3165	S/R	agT/agA		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	tolerated(0.28)		26/44		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	64591853	64591853	A	T	1	0	0	0	0	1	0	0	0	5200	272	10	4		4	EYS	6	64591853	Missense_Mutation	SNP	A	C3N-00547_TP	8522748	64591853	106214126	246	15707											
RIMS1	0	.	GRCh38	chr6	72235687	72235687	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgttattcttaacaagagaAcaaccatgcccaaagactca	16	9	6	10	0	2	2	1	0	1	2	2	3	2	2	2	0	4	1	2	0	6	3	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1816A>T	p.Thr606Ser	p.T606S	ENST00000521978	8/34	83	64	19	113	113	0	strelka-varscan-mutect	RIMS1,missense_variant,p.Thr606Ser,ENST00000264839,;RIMS1,missense_variant,p.Thr606Ser,ENST00000521978,NM_014989.5;RIMS1,missense_variant,p.Thr606Ser,ENST00000491071,;RIMS1,missense_variant,p.Thr606Ser,ENST00000520567,;RIMS1,missense_variant,p.Thr606Ser,ENST00000517960,;RIMS1,missense_variant,p.Thr606Ser,ENST00000518273,;RIMS1,missense_variant,p.Thr606Ser,ENST00000522291,;RIMS1,missense_variant,p.Thr80Ser,ENST00000401910,NM_001168407.1;RIMS1,missense_variant,p.Thr180Ser,ENST00000517433,;RIMS1,missense_variant,p.Thr80Ser,ENST00000523963,NM_001168408.1;RIMS1,missense_variant,p.Thr65Ser,ENST00000517827,NM_001168410.1;RIMS1,5_prime_UTR_variant,,ENST00000425662,NM_001168409.1;RIMS1,5_prime_UTR_variant,,ENST00000453976,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;RIMS1,non_coding_transcript_exon_variant,,ENST00000524197,;	T	ENST00000521978	Transcript	missense_variant	1816/5079	1816/5079	606/1692	T/S	Aca/Tca		1		1	RIMS1	HGNC	HGNC:17282	protein_coding	YES	CCDS47449.1	ENSP00000428417	Q86UR5		UPI00001908FB	NM_014989.5	tolerated(0.75)		8/34		PROSITE_profiles:PS50106,hmmpanther:PTHR12157:SF19,hmmpanther:PTHR12157,Gene3D:2.30.42.10,Pfam_domain:PF00595,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	72235687	72235687	A	T	1	0	0	0	0	1	0	0	0	13542	43	2	4		4	RIMS1	6	72235687	Missense_Mutation	SNP	A	C3N-00547_TP	7643834	72235687	98570292	247	15708											
RIMS1	0	.	GRCh38	chr6	72258279	72258279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaaatgtgccattacaGaggtaggctttgaaatgggc	12	11	11	7	0	0	2	0	1	0	1	0	2	0	2	2	3	3	2	2	3	5	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2925G>T	p.Gln975His	p.Q975H	ENST00000521978	17/34	88	70	18	88	88	0	strelka-varscan-mutect	RIMS1,missense_variant,p.Gln975His,ENST00000264839,;RIMS1,missense_variant,p.Gln975His,ENST00000521978,NM_014989.5;RIMS1,missense_variant,p.Gln975His,ENST00000491071,;RIMS1,missense_variant,p.Gln974His,ENST00000520567,;RIMS1,missense_variant,p.Gln974His,ENST00000517960,;RIMS1,missense_variant,p.Gln975His,ENST00000518273,;RIMS1,missense_variant,p.Gln974His,ENST00000522291,;RIMS1,missense_variant,p.Gln448His,ENST00000401910,NM_001168407.1;RIMS1,missense_variant,p.Gln549His,ENST00000517433,;RIMS1,missense_variant,p.Gln449His,ENST00000523963,NM_001168408.1;RIMS1,missense_variant,p.Gln434His,ENST00000517827,NM_001168410.1;RIMS1,missense_variant,p.Gln368His,ENST00000425662,NM_001168409.1;RIMS1,missense_variant,p.Gln368His,ENST00000453976,;RIMS1,missense_variant,p.Gln66His,ENST00000522211,;RIMS1,missense_variant,p.Gln200His,ENST00000370420,;RIMS1,splice_region_variant,,ENST00000370419,;RIMS1,splice_region_variant,,ENST00000524197,;RIMS1,upstream_gene_variant,,ENST00000463023,;	T	ENST00000521978	Transcript	missense_variant,splice_region_variant	2925/5079	2925/5079	975/1692	Q/H	caG/caT		1		1	RIMS1	HGNC	HGNC:17282	protein_coding	YES	CCDS47449.1	ENSP00000428417	Q86UR5		UPI00001908FB	NM_014989.5	deleterious(0.01)		17/34		hmmpanther:PTHR12157:SF19,hmmpanther:PTHR12157																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	72258279	72258279	G	T	1	0	0	0	0	1	0	0	0	13542	956	33	2		2	RIMS1	6	72258279	Missense_Mutation	SNP	G	C3N-00547_TP	22592	72258279	98547700	248	15709											
KHDC1	0	.	GRCh38	chr6	73241683	73241683	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatggaggtgaccaggtcaTcgttggtcagaggctggctt	8	11	15	7	1	2	2	2	1	0	1	3	3	2	3	1	6	0	3	1	6	1	3	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.560A>T	p.Asp187Val	p.D187V	ENST00000370384	5/5	272	211	61	336	336	0	strelka-varscan-mutect	KHDC1,missense_variant,p.Asp187Val,ENST00000370384,NM_001251874.1;KHDC1,missense_variant,p.Asp114Val,ENST00000257765,NM_030568.4;KHDC1,missense_variant,p.Asp114Val,ENST00000610435,;KHDC1,missense_variant,p.Asp114Val,ENST00000610330,;KHDC1,downstream_gene_variant,,ENST00000433730,;RP11-257K9.8,intron_variant,,ENST00000423730,;	A	ENST00000370384	Transcript	missense_variant	1061/1430	560/714	187/237	D/V	gAt/gTt		1		-1	KHDC1	HGNC	HGNC:21366	protein_coding	YES	CCDS59027.1	ENSP00000359411	Q4VXA5		UPI000020D187	NM_001251874.1	tolerated_low_confidence(0.32)		5/5		hmmpanther:PTHR31368,hmmpanther:PTHR31368:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	73241683	73241683	T	A	1	0	0	0	0	1	0	0	0	8064	1435	50	4		4	KHDC1	6	73241683	Missense_Mutation	SNP	T	C3N-00547_TP	983404	73241683	97564296	249	15710											
PM20D2	0	.	GRCh38	chr6	89162144	89162144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttctacactctgcggacgGccaaagctctggcaatgacg	10	8	11	12	3	3	1	0	1	3	0	3	2	3	2	1	3	3	3	1	3	3	2	rs372156408		C3N-00547_TP	C3N-00547_NB	G	G																c.1192G>T	p.Ala398Ser	p.A398S	ENST00000275072	7/7	112	82	30	132	132	0	strelka-varscan-mutect	PM20D2,missense_variant,p.Ala398Ser,ENST00000275072,NM_001010853.2;	T	ENST00000275072	Transcript	missense_variant	1287/4708	1192/1311	398/436	A/S	Gcc/Tcc	rs372156408	1		1	PM20D2	HGNC	HGNC:21408	protein_coding	YES	CCDS34499.1	ENSP00000275072	Q8IYS1		UPI0000160C07	NM_001010853.2	deleterious(0.04)		7/7		Gene3D:3.40.630.10,PIRSF_domain:PIRSF037226,hmmpanther:PTHR30575,hmmpanther:PTHR30575:SF0,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		rs372156408	.												T	3	4	50	89162144	89162144	G	T	1	0	0	0	0	1	0	0	0	12235	1203	42	2		2	PM20D2	6	89162144	Missense_Mutation	SNP	G	C3N-00547_TP	15920461	89162144	81643835	250	15711											
GABRR1	0	.	GRCh38	chr6	89178856	89178856	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttatcaatggcgtgggTgtcgattctcatgctcacat	8	15	10	8	2	3	0	3	0	1	0	5	1	3	0	0	2	1	2	0	2	3	4	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.1354A>T	p.Thr452Ser	p.T452S	ENST00000454853	10/10	427	378	49	463	463	0	strelka-varscan-mutect	GABRR1,missense_variant,p.Thr365Ser,ENST00000611484,NM_001256704.1;GABRR1,missense_variant,p.Thr435Ser,ENST00000435811,NM_001256703.1;GABRR1,missense_variant,p.Thr365Ser,ENST00000621627,;GABRR1,missense_variant,p.Thr452Ser,ENST00000454853,NM_002042.4;GABRR1,missense_variant,p.Thr365Ser,ENST00000369451,NM_001267582.1;GABRR1,3_prime_UTR_variant,,ENST00000457434,;	A	ENST00000454853	Transcript	missense_variant	1465/2820	1354/1440	452/479	T/S	Acc/Tcc		1		-1	GABRR1	HGNC	HGNC:4090	protein_coding	YES	CCDS5019.2	ENSP00000412673	P24046		UPI0000D4AF7D	NM_002042.4	tolerated(0.22)		10/10		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF30,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	89178856	89178856	T	A	1	0	0	0	0	1	0	0	0	6047	1696	59	4		4	GABRR1	6	89178856	Missense_Mutation	SNP	T	C3N-00547_TP	16712	89178856	81627123	251	15712											
FHL5	0	.	GRCh38	chr6	96610697	96610697	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagacgactatccattctgCgtggactgctacaaccatct	11	10	8	12	2	2	1	0	0	2	1	3	4	3	2	2	1	4	1	2	1	3	3	rs369256526		C3N-00547_TP	C3N-00547_NB	C	C																c.630C>T	p.=	p.C210C	ENST00000326771	6/7	133	125	8	153	153	0	strelka-varscan-mutect	FHL5,synonymous_variant,p.=,ENST00000326771,NM_020482.4;FHL5,synonymous_variant,p.=,ENST00000541107,NM_001170807.1;FHL5,synonymous_variant,p.=,ENST00000450218,;	T	ENST00000326771	Transcript	synonymous_variant	1010/2031	630/855	210/284	C	tgC/tgT	rs369256526	1		1	FHL5	HGNC	HGNC:17371	protein_coding	YES	CCDS5035.1	ENSP00000326022	Q5TD97		UPI000006F158	NM_020482.4			6/7		PROSITE_profiles:PS50023,hmmpanther:PTHR24205:SF7,hmmpanther:PTHR24205,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716																	LOW	1	SNV	1			1										PASS		rs369256526	.												T	2	4	50	96610697	96610697	C	T	1	0	0	0	0	0	0	0	1	5746	776	27	1		1	FHL5	6	96610697	Silent	SNP	C	C3N-00547_TP	7431841	96610697	74195282	252	15713											
SLC22A16	0	.	GRCh38	chr6	110435857	110435857	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattcatccttaccttacAatggttggatacagctcagc	12	12	6	11	0	2	0	2	0	0	0	3	1	3	1	2	2	5	2	2	2	5	5	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1416T>C	p.=	p.I472I	ENST00000368919	6/8	90	77	13	93	93	0	strelka-varscan-mutect	SLC22A16,synonymous_variant,p.=,ENST00000330550,;SLC22A16,synonymous_variant,p.=,ENST00000368919,NM_033125.3;SLC22A16,synonymous_variant,p.=,ENST00000451557,;SLC22A16,downstream_gene_variant,,ENST00000434949,;RN7SL617P,downstream_gene_variant,,ENST00000485298,;	G	ENST00000368919	Transcript	synonymous_variant	1483/1987	1416/1734	472/577	I	atT/atC		1		-1	SLC22A16	HGNC	HGNC:20302	protein_coding	YES	CCDS5084.1	ENSP00000357915	Q86VW1	A0A0K0K1K9	UPI000000DC13	NM_033125.3			6/8		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF186,Gene3D:1.20.1250.20,Pfam_domain:PF00083,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	50	110435857	110435857	A	G	1	0	0	0	0	0	0	0	1	14713	144	5	5		5	SLC22A16	6	110435857	Silent	SNP	A	C3N-00547_TP	13825160	110435857	60370122	253	15714											
CDK19	0	.	GRCh38	chr6	110623313	110623313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggaacactttgctgtcagGcttgaccttgtgtttctcca	7	14	10	10	0	2	1	1	1	1	0	3	3	2	2	2	2	2	3	2	2	1	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.910C>T	p.Pro304Ser	p.P304S	ENST00000368911	9/13	115	83	32	91	91	0	strelka-mutect	CDK19,missense_variant,p.Pro304Ser,ENST00000368911,NM_015076.4,NM_001300960.1;CDK19,missense_variant,p.Pro244Ser,ENST00000323817,NM_001300963.1,NM_001300964.1;CDK19,missense_variant,p.Pro200Ser,ENST00000413605,;CDK19,missense_variant,p.Pro244Ser,ENST00000457688,;CDK19,downstream_gene_variant,,ENST00000463016,;	A	ENST00000368911	Transcript	missense_variant	1090/6246	910/1509	304/502	P/S	Cct/Tct		1		-1	CDK19	HGNC	HGNC:19338	protein_coding	YES	CCDS5085.1	ENSP00000357907	Q9BWU1		UPI0000070643	NM_015076.4,NM_001300960.1	tolerated(0.14)		9/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF131,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	110623313	110623313	G	A	1	0	0	0	0	1	0	0	0	2839	1203	42	3		3	CDK19	6	110623313	Missense_Mutation	SNP	G	C3N-00547_TP	187456	110623313	60182666	254	15715											
RFPL4B	0	.	GRCh38	chr6	112350347	112350347	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaattttcctggatgcTgacttagaagaaatccagtt	11	13	11	6	0	0	3	0	1	0	2	2	5	2	5	2	2	1	2	2	2	4	4	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.639T>A	p.=	p.A213A	ENST00000441065	3/3	177	124	53	153	153	0	strelka-varscan-mutect	RFPL4B,synonymous_variant,p.=,ENST00000441065,NM_001013734.2;RP11-506B6.7,downstream_gene_variant,,ENST00000585611,;RP11-506B6.7,downstream_gene_variant,,ENST00000587816,;RP11-506B6.7,downstream_gene_variant,,ENST00000590673,;	A	ENST00000441065	Transcript	synonymous_variant	951/1900	639/792	213/263	A	gcT/gcA		1		1	RFPL4B	HGNC	HGNC:33264	protein_coding	YES	CCDS34515.1	ENSP00000423391	Q6ZWI9		UPI00001972F0	NM_001013734.2			3/3		PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF223,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	50	112350347	112350347	T	A	1	0	0	0	0	0	0	0	1	13430	1567	55	4		4	RFPL4B	6	112350347	Silent	SNP	T	C3N-00547_TP	1727034	112350347	58455632	255	15716											
RFX6	0	.	GRCh38	chr6	116877291	116877291	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggatggccaaggtcccgGagctggaagacaccttcctg	9	6	15	11	1	0	1	0	0	0	1	2	5	2	5	4	6	1	1	4	6	2	1	rs17853900		C3N-00547_TP	C3N-00547_NB	G	G																c.16G>T	p.Glu6Ter	p.E6*	ENST00000332958	1/19	202	154	48	258	258	0	strelka-varscan-mutect	RFX6,stop_gained,p.Glu6Ter,ENST00000332958,NM_173560.3;RFX6,non_coding_transcript_exon_variant,,ENST00000487683,;	T	ENST00000332958	Transcript	stop_gained	32/3460	16/2787	6/928	E/*	Gag/Tag	rs17853900	1		1	RFX6	HGNC	HGNC:21478	protein_coding	YES	CCDS5113.1	ENSP00000332208	Q8HWS3		UPI00001609BE	NM_173560.3			1/19																			HIGH	1	SNV	1			1										PASS		rs17853900	.												T	4	4	50	116877291	116877291	G	T	1	0	0	0	0	0	1	0	0	13441	1175	41	2		2	RFX6	6	116877291	Nonsense_Mutation	SNP	G	C3N-00547_TP	4526944	116877291	53928688	256	15717											
EYA4	0	.	GRCh38	chr6	133481470	133481470	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgttatctataggagagttCgataccatgcagagtccctc	11	12	9	9	1	1	2	0	0	1	2	4	4	2	2	2	1	2	3	2	1	4	5	rs773095472		C3N-00547_TP	C3N-00547_NB	C	C																c.996C>T	p.=	p.F332F	ENST00000531901	12/20	292	250	42	336	335	1	strelka-varscan-mutect	EYA4,synonymous_variant,p.=,ENST00000367895,NM_004100.4;EYA4,synonymous_variant,p.=,ENST00000355167,NM_172105.3;EYA4,synonymous_variant,p.=,ENST00000355286,NM_172103.3;EYA4,synonymous_variant,p.=,ENST00000525849,;EYA4,synonymous_variant,p.=,ENST00000531901,NM_001301013.1;EYA4,synonymous_variant,p.=,ENST00000452339,NM_001301012.1;EYA4,synonymous_variant,p.=,ENST00000430974,;EYA4,synonymous_variant,p.=,ENST00000431403,;EYA4,non_coding_transcript_exon_variant,,ENST00000531861,;EYA4,non_coding_transcript_exon_variant,,ENST00000532518,;	T	ENST00000531901	Transcript	synonymous_variant	1225/2892	996/1938	332/645	F	ttC/ttT	rs773095472	1		1	EYA4	HGNC	HGNC:3522	protein_coding	YES	CCDS75521.1	ENSP00000432770		F2Z2Y1	UPI0001AE72E3	NM_001301013.1			12/20		hmmpanther:PTHR10190:SF17,hmmpanther:PTHR10190										uncertain_significance							LOW	1	SNV	2		1	1										PASS		rs773095472	.												T	2	4	50	133481470	133481470	C	T	1	0	0	0	0	0	0	0	1	5199	883	31	1		1	EYA4	6	133481470	Silent	SNP	C	C3N-00547_TP	16604179	133481470	37324509	257	15718											
ECT2L	0	.	GRCh38	chr6	138876556	138876556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgaagcactgattaatCtggtaagctattatataatg	14	16	7	4	0	1	2	0	2	1	0	1	2	1	2	0	1	2	3	0	1	7	8	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1663C>A	p.Leu555Met	p.L555M	ENST00000541398	14/22	85	64	21	118	118	0	strelka-varscan-mutect	ECT2L,missense_variant,p.Leu555Met,ENST00000541398,NM_001077706.2;ECT2L,missense_variant,p.Leu555Met,ENST00000367682,NM_001195037.2;ECT2L,missense_variant,p.Leu555Met,ENST00000423192,;RP3-509I19.6,downstream_gene_variant,,ENST00000572284,;RP3-509I19.6,downstream_gene_variant,,ENST00000404494,;	A	ENST00000541398	Transcript	missense_variant,splice_region_variant	1988/4483	1663/2715	555/904	L/M	Ctg/Atg		1		1	ECT2L	HGNC	HGNC:21118	protein_coding	YES	CCDS43508.1	ENSP00000442307	Q008S8		UPI0000E86804	NM_001077706.2	tolerated(0.08)		14/22		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF132																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	138876556	138876556	C	A	1	0	0	0	0	1	0	0	0	4730	927	32	2		2	ECT2L	6	138876556	Missense_Mutation	SNP	C	C3N-00547_TP	5395086	138876556	31929423	258	15719											
OPRM1	0	.	GRCh38	chr6	154091076	154091076	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaccgtgtgctatggactGatgatcttgcgcctcaagag	9	12	11	9	2	2	3	1	2	1	1	2	4	2	4	2	1	3	1	2	1	3	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1047G>C	p.=	p.L349L	ENST00000434900	5/6	270	247	23	384	384	0	strelka-varscan-mutect	OPRM1,synonymous_variant,p.=,ENST00000414028,NM_001145284.3;OPRM1,synonymous_variant,p.=,ENST00000522236,NM_001145287.2;OPRM1,synonymous_variant,p.=,ENST00000522555,NM_001285526.1;OPRM1,synonymous_variant,p.=,ENST00000435918,NM_001145283.2;OPRM1,synonymous_variant,p.=,ENST00000330432,NM_000914.4;OPRM1,synonymous_variant,p.=,ENST00000434900,NM_001145279.3,NM_001285524.1;OPRM1,synonymous_variant,p.=,ENST00000360422,NM_001285523.1;OPRM1,synonymous_variant,p.=,ENST00000520708,NM_001145280.3;OPRM1,synonymous_variant,p.=,ENST00000428397,NM_001008504.3;OPRM1,synonymous_variant,p.=,ENST00000229768,NM_001008505.2;OPRM1,synonymous_variant,p.=,ENST00000419506,NM_001145286.2;OPRM1,synonymous_variant,p.=,ENST00000337049,NM_001008503.2;OPRM1,synonymous_variant,p.=,ENST00000452687,NM_001145282.2;OPRM1,synonymous_variant,p.=,ENST00000524163,NM_001145285.2;OPRM1,synonymous_variant,p.=,ENST00000518759,NM_001145281.2;OPRM1,downstream_gene_variant,,ENST00000520282,;OPRM1,non_coding_transcript_exon_variant,,ENST00000522382,;OPRM1,non_coding_transcript_exon_variant,,ENST00000519613,;OPRM1,non_coding_transcript_exon_variant,,ENST00000521106,;OPRM1,missense_variant,p.Asp139His,ENST00000524150,;OPRM1,synonymous_variant,p.=,ENST00000519083,;OPRM1,synonymous_variant,p.=,ENST00000522739,;	C	ENST00000434900	Transcript	synonymous_variant	1565/2033	1047/1482	349/493	L	ctG/ctC		1		1	OPRM1	HGNC	HGNC:8156	protein_coding	YES	CCDS47503.1	ENSP00000394624	P35372		UPI0001899627	NM_001145279.3,NM_001285524.1			5/6		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF7,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV	1			1										PASS		rs1195911052	.												C	2	2	50	154091076	154091076	G	C	1	0	0	0	0	0	0	0	1	10962	1277	45	4		4	OPRM1	6	154091076	Silent	SNP	G	C3N-00547_TP	15214520	154091076	16714903	259	15720											
LPA	0	.	GRCh38	chr6	160557568	160557568	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcagtagttctcggtcagGccactgcaaattccaaaaca	12	9	8	12	1	2	0	1	0	1	0	4	0	3	0	2	2	3	4	2	2	4	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.4635C>A	p.=	p.G1545G	ENST00000316300	29/39	155	126	29	174	174	0	strelka-varscan-mutect	LPA,synonymous_variant,p.=,ENST00000316300,NM_005577.2;	T	ENST00000316300	Transcript	synonymous_variant	4680/6414	4635/6123	1545/2040	G	ggC/ggA		1		-1	LPA	HGNC	HGNC:6667	protein_coding	YES	CCDS43523.1	ENSP00000321334	P08519		UPI0000458AC9	NM_005577.2			29/39		Gene3D:2.40.20.10,Pfam_domain:PF00051,PROSITE_profiles:PS50070,hmmpanther:PTHR24261,hmmpanther:PTHR24261:SF2,SMART_domains:SM00130,Superfamily_domains:SSF57440																	LOW	1	SNV	1			1										PASS		rs1370596847	.												T	2	4	50	160557568	160557568	G	T	1	0	0	0	0	0	0	0	1	8806	1217	42	2		2	LPA	6	160557568	Silent	SNP	G	C3N-00547_TP	6466492	160557568	10248411	260	15721											
PDE10A	0	.	GRCh38	chr6	165396423	165396423	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcttttccatcgttacccGgtaaatgcactctgagtggc	8	12	9	12	2	1	1	0	1	1	0	3	1	2	1	2	2	3	4	2	2	3	4			C3N-00547_TP	C3N-00547_NB	G	G																c.1315C>G	p.Arg439Gly	p.R439G	ENST00000539869	14/22	154	121	33	184	184	0	strelka-mutect	PDE10A,missense_variant,p.Arg429Gly,ENST00000366882,NM_006661.3;PDE10A,missense_variant,p.Arg439Gly,ENST00000539869,NM_001130690.2;	C	ENST00000539869	Transcript	missense_variant	1371/4401	1315/2370	439/789	R/G	Cgg/Ggg	COSM3024726,COSM4352899	1		-1	PDE10A	HGNC	HGNC:8772	protein_coding	YES	CCDS47513.1	ENSP00000438284	Q9Y233		UPI000006F80E	NM_001130690.2	deleterious(0.01)		14/22		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF111,Superfamily_domains:SSF55781											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	50	165396423	165396423	G	C	1	0	0	0	0	1	0	0	0	11718	1115	39	4		4	PDE10A	6	165396423	Missense_Mutation	SNP	G	C3N-00547_TP	4838855	165396423	5409556	261	15722											
DLL1	0	.	GRCh38	chr6	170285341	170285341	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtgtacccaggccggcaAgagcaagtgtagctcccctg	8	7	12	14	1	0	1	0	0	0	1	1	1	1	1	5	2	3	5	5	2	4	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.945T>A	p.=	p.S315S	ENST00000366756	7/11	303	241	62	370	370	0	strelka-varscan-mutect	DLL1,synonymous_variant,p.=,ENST00000366756,NM_005618.3;DLL1,downstream_gene_variant,,ENST00000630500,;	T	ENST00000366756	Transcript	synonymous_variant	1279/3174	945/2172	315/723	S	tcT/tcA		1		-1	DLL1	HGNC	HGNC:2908	protein_coding	YES	CCDS5313.1	ENSP00000355718	O00548		UPI000004C656	NM_005618.3			7/11		Gene3D:2.10.25.10,PD936484,Pfam_domain:PF00008,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF283,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	170285341	170285341	A	T	1	0	0	0	0	0	0	0	1	4373	59	3	4		4	DLL1	6	170285341	Silent	SNP	A	C3N-00547_TP	4888918	170285341	520638	262	15723											
UNCX	0	.	GRCh38	chr7	1233265	1233265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccgcctgcggggtcggcgGggacggccagcccttcaagc	5	4	17	15	5	1	0	1	0	0	0	2	1	1	1	4	6	4	0	4	6	1	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.248G>T	p.Gly83Val	p.G83V	ENST00000316333	1/3	55	30	25	63	63	0	strelka-mutect	UNCX,missense_variant,p.Gly83Val,ENST00000316333,NM_001080461.1;	T	ENST00000316333	Transcript	missense_variant	359/2048	248/1596	83/531	G/V	gGg/gTg		1		1	UNCX	HGNC	HGNC:33194	protein_coding	YES	CCDS34583.1	ENSP00000314480	A6NJT0		UPI0000D61BE6	NM_001080461.1	deleterious(0)		1/3		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF382																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	1233265	1233265	G	T	1	0	0	0	0	1	0	0	0	17524	1232	43	2		2	UNCX	7	1233265	Missense_Mutation	SNP	G	C3N-00547_TP		1233265	158112708	263	15724											
TNRC18	0	.	GRCh38	chr7	5352079	5352079	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaggaattcttcgtctTcctctgagtccgtatctgca	6	15	7	13	2	5	1	1	1	4	0	8	2	7	2	3	1	1	2	3	1	2	5	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.5210A>T	p.Glu1737Val	p.E1737V	ENST00000430969	17/30	161	102	59	146	146	0	strelka-varscan-mutect	TNRC18,missense_variant,p.Glu1737Val,ENST00000399537,;TNRC18,missense_variant,p.Glu1737Val,ENST00000430969,NM_001080495.2;TNRC18,missense_variant,p.Glu227Val,ENST00000440081,;	A	ENST00000430969	Transcript	missense_variant	5559/10562	5210/8907	1737/2968	E/V	gAa/gTa		1		-1	TNRC18	HGNC	HGNC:11962	protein_coding	YES	CCDS47534.1	ENSP00000395538	O15417		UPI00016632FD	NM_001080495.2	deleterious(0)		17/30		hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF21																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	5352079	5352079	T	A	1	0	0	0	0	1	0	0	0	16812	1783	62	4		4	TNRC18	7	5352079	Missense_Mutation	SNP	T	C3N-00547_TP	4118814	5352079	153993894	264	15725											
DGKB	0	.	GRCh38	chr7	14621392	14621392	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacctgcaggccttgtcCatctacagtaacagagttgg	10	11	9	11	0	2	1	1	0	1	1	3	1	3	1	3	2	4	3	3	2	3	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1273G>T	p.Gly425Ter	p.G425*	ENST00000403951	15/26	308	227	81	384	384	0	strelka-varscan-mutect	DGKB,stop_gained,p.Gly425Ter,ENST00000403951,;DGKB,stop_gained,p.Gly425Ter,ENST00000399322,NM_004080.2;DGKB,stop_gained,p.Gly424Ter,ENST00000402815,;DGKB,stop_gained,p.Gly417Ter,ENST00000407950,;DGKB,stop_gained,p.Gly425Ter,ENST00000406247,NM_145695.2;DGKB,non_coding_transcript_exon_variant,,ENST00000403963,;DGKB,non_coding_transcript_exon_variant,,ENST00000471732,;DGKB,non_coding_transcript_exon_variant,,ENST00000477401,;	A	ENST00000403951	Transcript	stop_gained	1693/6917	1273/2415	425/804	G/*	Gga/Tga		1		-1	DGKB	HGNC	HGNC:2850	protein_coding	YES	CCDS47547.1	ENSP00000385780	Q9Y6T7		UPI0000033B9B				15/26		hmmpanther:PTHR11255:SF32,hmmpanther:PTHR11255																	HIGH	1	SNV	5			1										PASS		rs968326818	.												A	4	1	50	14621392	14621392	C	A	1	0	0	0	0	0	1	0	0	4272	603	21	2		2	DGKB	7	14621392	Nonsense_Mutation	SNP	C	C3N-00547_TP	9269313	14621392	144724581	265	15726											
HOXA11	0	.	GRCh38	chr7	27184712	27184712	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggtgccgtaggctgtctCgaaaaactggtcgaaagcct	9	8	14	10	4	1	0	0	0	1	0	3	2	1	0	2	4	3	2	2	4	4	1	rs745804777		C3N-00547_TP	C3N-00547_NB	C	C																c.433G>T	p.Glu145Ter	p.E145*	ENST00000006015	1/2	789	536	253	616	616	0	strelka-varscan-mutect	HOXA11,stop_gained,p.Glu145Ter,ENST00000006015,NM_005523.5;HOXA11,stop_gained,p.Glu115Ter,ENST00000517402,;HOXA10,upstream_gene_variant,,ENST00000396344,;HOXA10-HOXA9,upstream_gene_variant,,ENST00000470747,;RP1-170O19.14,downstream_gene_variant,,ENST00000523331,;HOXA11-AS,non_coding_transcript_exon_variant,,ENST00000522863,;HOXA11-AS,non_coding_transcript_exon_variant,,ENST00000520360,;HOXA11-AS,upstream_gene_variant,,ENST00000522674,;HOXA11-AS,upstream_gene_variant,,ENST00000520395,;HOXA11-AS,upstream_gene_variant,,ENST00000479766,;HOXA11-AS1_4,upstream_gene_variant,,ENST00000620901,;HOXA11-AS1_5,upstream_gene_variant,,ENST00000620211,;HOXA11-AS1_2,upstream_gene_variant,,ENST00000615604,;HOXA11-AS1_6,upstream_gene_variant,,ENST00000620092,;HOXA11-AS1_3,upstream_gene_variant,,ENST00000613383,;HOXA11-AS1_1,upstream_gene_variant,,ENST00000613939,;	A	ENST00000006015	Transcript	stop_gained	505/2295	433/942	145/313	E/*	Gag/Tag	rs745804777	1		-1	HOXA11	HGNC	HGNC:5101	protein_coding	YES	CCDS5411.1	ENSP00000006015	P31270		UPI000000D992	NM_005523.5			1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF50,Pfam_domain:PF12045																	HIGH	1	SNV	1			1										PASS		rs745804777	.												A	4	1	50	27184712	27184712	C	A	1	0	0	0	0	0	1	0	0	7184	893	31	1		1	HOXA11	7	27184712	Nonsense_Mutation	SNP	C	C3N-00547_TP	12563320	27184712	132161261	266	15727											
EVX1	0	.	GRCh38	chr7	27243325	27243325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggcccaggacccccggccCcctcagtcgacagcctctcc	5	5	9	22	3	2	0	1	0	1	0	5	2	2	1	7	3	1	0	7	3	0	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.295C>A	p.Pro99Thr	p.P99T	ENST00000496902	1/3	236	170	66	203	202	1	strelka-varscan-mutect	EVX1,missense_variant,p.Pro99Thr,ENST00000496902,NM_001989.4,NM_001304519.1;EVX1,missense_variant,p.Pro99Thr,ENST00000222761,;EVX1,upstream_gene_variant,,ENST00000580535,;RP1-170O19.17,upstream_gene_variant,,ENST00000523608,;EVX1-AS,intron_variant,,ENST00000519218,;EVX1-AS,intron_variant,,ENST00000517726,;EVX1-AS,upstream_gene_variant,,ENST00000519050,;EVX1,upstream_gene_variant,,ENST00000518886,;	A	ENST00000496902	Transcript	missense_variant	626/2955	295/1224	99/407	P/T	Ccc/Acc		1		1	EVX1	HGNC	HGNC:3506	protein_coding	YES	CCDS5413.1	ENSP00000419266	P49640		UPI000012A2AD	NM_001989.4,NM_001304519.1	tolerated(0.1)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24329:SF246,hmmpanther:PTHR24329																	MODERATE	1	SNV	1			1										PASS		rs899456755	.												A	3	1	50	27243325	27243325	C	A	1	0	0	0	0	1	0	0	0	5161	623	22	2		2	EVX1	7	27243325	Missense_Mutation	SNP	C	C3N-00547_TP	58613	27243325	132102648	267	15728											
HECW1	0	.	GRCh38	chr7	43438025	43438025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attcagttttgtgtccttgcCcactgacgtgctggaaattg	7	15	10	9	1	1	1	1	1	0	0	2	2	2	2	2	1	2	2	2	1	1	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.824C>T	p.Pro275Leu	p.P275L	ENST00000395891	9/30	217	144	73	155	155	0	strelka-varscan-mutect	HECW1,missense_variant,p.Pro275Leu,ENST00000395891,NM_015052.4;HECW1,missense_variant,p.Pro275Leu,ENST00000453890,NM_001287059.1;HECW1,non_coding_transcript_exon_variant,,ENST00000471043,;HECW1,non_coding_transcript_exon_variant,,ENST00000492310,;	T	ENST00000395891	Transcript	missense_variant	1429/9501	824/4821	275/1606	P/L	cCc/cTc		1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4	tolerated(0.47)		9/30		PROSITE_profiles:PS50004,hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	43438025	43438025	C	T	1	0	0	0	0	1	0	0	0	6924	623	22	3		3	HECW1	7	43438025	Missense_Mutation	SNP	C	C3N-00547_TP	16194700	43438025	115907948	268	15729											
NPC1L1	0	.	GRCh38	chr7	44513518	44513518	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatagaaccttcaaagcTgtggttgacatagatgttgt	11	15	10	5	0	1	4	1	2	0	2	1	4	1	4	1	1	2	3	1	1	4	6	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.4009A>T	p.Ser1337Cys	p.S1337C	ENST00000289547	20/20	826	537	289	609	609	0	strelka-varscan-mutect	NPC1L1,missense_variant,p.Ser1337Cys,ENST00000289547,NM_013389.2;NPC1L1,missense_variant,p.Ser1264Cys,ENST00000546276,;NPC1L1,missense_variant,p.Ser1310Cys,ENST00000381160,NM_001101648.1;AC004938.5,upstream_gene_variant,,ENST00000438468,;	A	ENST00000289547	Transcript	missense_variant	4065/5048	4009/4080	1337/1359	S/C	Agc/Tgc		1		-1	NPC1L1	HGNC	HGNC:7898	protein_coding	YES	CCDS5491.1	ENSP00000289547	Q9UHC9		UPI000013DF88	NM_013389.2	deleterious_low_confidence(0)		20/20																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	44513518	44513518	T	A	1	0	0	0	0	1	0	0	0	10619	1580	55	4		4	NPC1L1	7	44513518	Missense_Mutation	SNP	T	C3N-00547_TP	1075493	44513518	114832455	269	15730											
TNS3	0	.	GRCh38	chr7	47369529	47369529	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgttggtggccgggattgCctgggggccacctgggatgc	3	9	19	10	1	0	0	0	0	0	0	0	2	0	2	4	6	2	2	4	6	0	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1117G>C	p.Ala373Pro	p.A373P	ENST00000311160	17/31	183	135	48	165	165	0	strelka-varscan-mutect	TNS3,missense_variant,p.Ala373Pro,ENST00000311160,NM_022748.11;TNS3,missense_variant,p.Ala476Pro,ENST00000457718,;TNS3,missense_variant,p.Ala462Pro,ENST00000450444,;TNS3,non_coding_transcript_exon_variant,,ENST00000469470,;	G	ENST00000311160	Transcript	missense_variant	1475/7618	1117/4338	373/1445	A/P	Gca/Cca		1		-1	TNS3	HGNC	HGNC:21616	protein_coding	YES	CCDS5506.2	ENSP00000312143	Q68CZ2		UPI00001AE9DA	NM_022748.11	tolerated(0.19)		17/31		hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF42,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	47369529	47369529	C	G	1	0	0	0	0	1	0	0	0	16818	739	26	4		4	TNS3	7	47369529	Missense_Mutation	SNP	C	C3N-00547_TP	2856011	47369529	111976444	270	15731											
ZNF727	0	.	GRCh38	chr7	64078338	64078338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttacaaatgtgaagaatgtgGcaaaacctttaagtggttcc	14	12	9	6	0	0	2	0	1	0	1	1	2	1	2	2	2	2	2	2	2	7	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1289G>T	p.Gly430Val	p.G430V	ENST00000456806	4/4	132	116	16	141	141	0	strelka-varscan-mutect	ZNF727,missense_variant,p.Gly430Val,ENST00000456806,NM_001159522.1;	T	ENST00000456806	Transcript	missense_variant	1468/1679	1289/1500	430/499	G/V	gGc/gTc		1		1	ZNF727	HGNC	HGNC:22785	protein_coding	YES	CCDS55113.1	ENSP00000485448	A8MUV8		UPI0001A23134	NM_001159522.1	deleterious(0.01)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF98,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	4			1										PASS		.	.												T	3	4	50	64078338	64078338	G	T	1	0	0	0	0	1	0	0	0	18701	1203	42	2		2	ZNF727	7	64078338	Missense_Mutation	SNP	G	C3N-00547_TP	16708809	64078338	95267635	271	15732											
WBSCR17	0	.	GRCh38	chr7	71416027	71416027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctaccgggcaggtcactgGcttctttgatgcccacgtgg	5	10	14	12	2	2	1	1	1	1	0	2	1	2	1	2	5	2	3	2	5	1	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.728G>T	p.Gly243Val	p.G243V	ENST00000333538	4/11	75	46	29	98	98	0	strelka-varscan-mutect	WBSCR17,missense_variant,p.Gly243Val,ENST00000333538,NM_022479.2;WBSCR17,missense_variant,p.Gly164Val,ENST00000618959,;WBSCR17,downstream_gene_variant,,ENST00000447516,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;	T	ENST00000333538	Transcript	missense_variant	1362/3884	728/1797	243/598	G/V	gGc/gTc		1		1	WBSCR17	HGNC	HGNC:16347	protein_coding	YES	CCDS5540.1	ENSP00000329654	Q6IS24	Q2L4S5	UPI00000502D5	NM_022479.2	tolerated(0.14)		4/11		Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	71416027	71416027	G	T	1	0	0	0	0	1	0	0	0	17823	1203	42	2		2	WBSCR17	7	71416027	Missense_Mutation	SNP	G	C3N-00547_TP	7337689	71416027	87929946	272	15733											
CLIP2	0	.	GRCh38	chr7	74376009	74376009	+	Frame_Shift_Del	DEL	C	C	-																															ggtcccccacctccggaccaCccagacgccgccgagatcct																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1610delC	p.Pro537GlnfsTer35	p.P537Qfs*35	ENST00000223398	10/17	136	82	54	148	148	0	sindel-varindel-pindel	CLIP2,frameshift_variant,p.Pro537GlnfsTer35,ENST00000223398,NM_003388.4;CLIP2,frameshift_variant,p.Pro502GlnfsTer35,ENST00000361545,NM_032421.2;CLIP2,frameshift_variant,p.Pro537GlnfsTer35,ENST00000395060,;CLIP2,upstream_gene_variant,,ENST00000493166,;CLIP2,upstream_gene_variant,,ENST00000487091,;CLIP2,upstream_gene_variant,,ENST00000482424,;	-	ENST00000223398	Transcript	frameshift_variant	1935/5563	1608/3141	536/1046	H/X	caC/ca		1		1	CLIP2	HGNC	HGNC:2586	protein_coding	YES	CCDS5569.1	ENSP00000223398	Q9UDT6		UPI000007061E	NM_003388.4			10/17		hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF10																	HIGH	1	deletion	5	2		1										PASS		.	.												-	7	5	50	74376009	74376009	C	-	1	0	1	0	1	0	0	0	0	3302	506	18	0		0	CLIP2	7	74376009	Frame_Shift_Del	DEL	C	C3N-00547_TP	2959982	74376009	84969964	273	15734											
PHTF2	0	.	GRCh38	chr7	77929317	77929317	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaatatagagatgaccCttttcatcaggttggtttat	14	14	8	5	0	2	3	2	1	0	2	2	4	2	3	1	2	0	2	1	2	6	7	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1226C>G	p.Pro409Arg	p.P409R	ENST00000422959	11/19	118	105	13	132	132	0	strelka-varscan-mutect	PHTF2,missense_variant,p.Pro443Arg,ENST00000416283,;PHTF2,missense_variant,p.Pro405Arg,ENST00000307305,NM_001127358.1,NM_020432.4;PHTF2,missense_variant,p.Pro443Arg,ENST00000248550,;PHTF2,missense_variant,p.Pro405Arg,ENST00000275575,;PHTF2,missense_variant,p.Pro409Arg,ENST00000422959,NM_001127357.1;PHTF2,missense_variant,p.Pro405Arg,ENST00000424760,;PHTF2,non_coding_transcript_exon_variant,,ENST00000454592,;PHTF2,non_coding_transcript_exon_variant,,ENST00000479515,;	G	ENST00000422959	Transcript	missense_variant	1428/3525	1226/2256	409/751	P/R	cCt/cGt		1		1	PHTF2	HGNC	HGNC:13411	protein_coding	YES	CCDS47621.1	ENSP00000403042	Q8N3S3		UPI0000E674D3	NM_001127357.1	tolerated(0.38)		11/19		hmmpanther:PTHR12680,hmmpanther:PTHR12680:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	50	77929317	77929317	C	G	1	0	0	0	0	1	0	0	0	11951	681	24	4		4	PHTF2	7	77929317	Missense_Mutation	SNP	C	C3N-00547_TP	3553308	77929317	81416656	274	15735											
SEMA3C	0	.	GRCh38	chr7	80744961	80744961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatgagggcctttaacttgCcatagtcccctctcattttc	7	15	7	12	0	1	2	1	2	1	0	4	2	2	2	4	1	2	0	4	1	2	6	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2189G>A	p.Gly730Asp	p.G730D	ENST00000265361	18/18	285	260	25	466	466	0	strelka-varscan-mutect	SEMA3C,missense_variant,p.Gly730Asp,ENST00000265361,NM_006379.3;SEMA3C,missense_variant,p.Gly730Asp,ENST00000419255,;	T	ENST00000265361	Transcript	missense_variant	2751/5174	2189/2256	730/751	G/D	gGc/gAc		1		-1	SEMA3C	HGNC	HGNC:10725	protein_coding	YES	CCDS5596.1	ENSP00000265361	Q99985		UPI000011C137	NM_006379.3	tolerated(0.35)		18/18		hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF25																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	80744961	80744961	C	T	1	0	0	0	0	1	0	0	0	14302	739	26	3		3	SEMA3C	7	80744961	Missense_Mutation	SNP	C	C3N-00547_TP	2815644	80744961	78601012	275	15736											
PCLO	0	.	GRCh38	chr7	82950104	82950104	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatgctgtcaccatatttcCctacacgagctttcctcctt	7	15	4	15	1	2	0	2	0	0	0	5	1	5	0	4	0	3	2	4	0	2	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.10484G>C	p.Gly3495Ala	p.G3495A	ENST00000333891	6/25	166	91	75	185	185	0	strelka-varscan-mutect	PCLO,missense_variant,p.Gly3495Ala,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Gly3495Ala,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Gly215Ala,ENST00000437081,;	G	ENST00000333891	Transcript	missense_variant	10822/20329	10484/15429	3495/5142	G/A	gGg/gCg		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	tolerated(0.11)		6/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	50	82950104	82950104	C	G	1	0	0	0	0	1	0	0	0	11671	623	22	4		4	PCLO	7	82950104	Missense_Mutation	SNP	C	C3N-00547_TP	2205143	82950104	76395869	276	15737											
ABCB4	0	.	GRCh38	chr7	87443436	87443436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccttcaggttgaggccCttcaagatctgtaaggaaaa	12	10	10	9	0	3	2	2	1	1	1	3	3	3	3	2	3	1	3	2	3	4	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1239G>T	p.Lys413Asn	p.K413N	ENST00000265723	12/28	386	246	140	495	494	1	strelka-varscan-mutect	ABCB4,missense_variant,p.Lys413Asn,ENST00000265723,NM_018849.2;ABCB4,missense_variant,p.Lys413Asn,ENST00000359206,NM_000443.3;ABCB4,missense_variant,p.Lys413Asn,ENST00000358400,NM_018850.2;ABCB4,missense_variant,p.Lys413Asn,ENST00000453593,;	A	ENST00000265723	Transcript	missense_variant	1351/4020	1239/3861	413/1286	K/N	aaG/aaT		1		-1	ABCB4	HGNC	HGNC:45	protein_coding	YES	CCDS5606.1	ENSP00000265723	P21439		UPI000013D66B	NM_018849.2	tolerated(0.36)		12/28		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	87443436	87443436	C	A	1	0	0	0	0	1	0	0	0	47	680	24	2		2	ABCB4	7	87443436	Missense_Mutation	SNP	C	C3N-00547_TP	4493332	87443436	71902537	277	15738											
MTERF1	0	.	GRCh38	chr7	91874524	91874524	+	Frame_Shift_Del	DEL	C	C	-																															aaaactccaggctgtcgtttCcttgccatgtcaatatctac																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.270delG	p.Lys91AsnfsTer10	p.K91Nfs*10	ENST00000351870	3/3	218	191	27	196	196	0	sindel-varindel-pindel	MTERF1,frameshift_variant,p.Lys71AsnfsTer10,ENST00000419292,NM_001301134.1;MTERF1,frameshift_variant,p.Lys91AsnfsTer10,ENST00000351870,NM_006980.4;MTERF1,frameshift_variant,p.Lys71AsnfsTer10,ENST00000406735,NM_001301135.1;MTERF1,frameshift_variant,p.Lys71AsnfsTer10,ENST00000456229,;MTERF1,frameshift_variant,p.Lys91AsnfsTer10,ENST00000442961,;MTERF1,downstream_gene_variant,,ENST00000425936,;MTERF1,intron_variant,,ENST00000454222,;MTERF1,downstream_gene_variant,,ENST00000481516,;	-	ENST00000351870	Transcript	frameshift_variant	364/1997	270/1200	90/399	R/X	agG/ag		1		-1	MTERF1	HGNC	HGNC:21463	protein_coding	YES	CCDS5621.1	ENSP00000248643	Q99551		UPI000004A0C8	NM_006980.4			3/3		Pfam_domain:PF02536,hmmpanther:PTHR15437,hmmpanther:PTHR15437:SF2																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	50	91874524	91874524	C	-	1	0	1	0	1	0	0	0	0	9903	854	30	0		0	MTERF1	7	91874524	Frame_Shift_Del	DEL	C	C3N-00547_TP	4431088	91874524	67471449	278	15739											
COL1A2	0	.	GRCh38	chr7	94421927	94421927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtttccctggtgctgctgGacggactggtcccccaggac	4	10	14	13	1	0	0	0	0	0	0	2	3	2	3	3	6	2	3	3	6	0	1			C3N-00547_TP	C3N-00547_NB	G	G																c.2378G>T	p.Gly793Val	p.G793V	ENST00000297268	39/52	221	189	32	220	219	1	strelka-varscan-mutect	COL1A2,missense_variant,p.Gly793Val,ENST00000297268,NM_000089.3;COL1A2,missense_variant,p.Gly791Val,ENST00000620463,;COL1A2,non_coding_transcript_exon_variant,,ENST00000497316,;COL1A2,non_coding_transcript_exon_variant,,ENST00000473573,;COL1A2,upstream_gene_variant,,ENST00000481570,;COL1A2,upstream_gene_variant,,ENST00000478215,;COL1A2,downstream_gene_variant,,ENST00000461525,;COL1A2,downstream_gene_variant,,ENST00000467931,;COL1A2,upstream_gene_variant,,ENST00000469732,;COL1A2,upstream_gene_variant,,ENST00000492110,;COL1A2,upstream_gene_variant,,ENST00000488121,;	T	ENST00000297268	Transcript	missense_variant	2849/5411	2378/4101	793/1366	G/V	gGa/gTa	COSM1201824,COSM1496709	1		1	COL1A2	HGNC	HGNC:2198	protein_coding	YES	CCDS34682.1	ENSP00000297268	P08123	A0A0S2Z3H5	UPI00003B0CFC	NM_000089.3	deleterious(0.01)		39/52		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF568,Low_complexity_(Seg):seg											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	50	94421927	94421927	G	T	1	0	0	0	0	1	0	0	0	3466	1174	41	2		2	COL1A2	7	94421927	Missense_Mutation	SNP	G	C3N-00547_TP	2547403	94421927	64924046	279	15740											
PTCD1	0	.	GRCh38	chr7	99424909	99424909	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgccaggaccggcaacagCgccttggccccctccaggtc	6	7	11	17	2	0	0	0	0	0	0	2	1	1	1	6	4	3	1	6	4	1	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1623G>T	p.=	p.A541A	ENST00000292478	6/8	616	367	249	603	603	0	strelka-varscan-mutect	PTCD1,synonymous_variant,p.=,ENST00000292478,NM_015545.3;ATP5J2-PTCD1,synonymous_variant,p.=,ENST00000413834,NM_001198879.1;PTCD1,downstream_gene_variant,,ENST00000485746,;	A	ENST00000292478	Transcript	synonymous_variant	1874/5582	1623/2103	541/700	A	gcG/gcT		1		-1	PTCD1	HGNC	HGNC:22198	protein_coding	YES	CCDS34691.1	ENSP00000292478	O75127	A4D273	UPI0000223FFA	NM_015545.3			6/8		PROSITE_profiles:PS51375,hmmpanther:PTHR24014,hmmpanther:PTHR24014:SF6																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	99424909	99424909	C	A	1	0	0	0	0	0	0	0	1	12880	755	27	1		1	PTCD1	7	99424909	Silent	SNP	C	C3N-00547_TP	5002982	99424909	59921064	280	15741											
PTCD1	0	.	GRCh38	chr7	99425130	99425130	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccctccaggccccctaTcaaggccagccggtcagctg	8	5	11	17	1	2	0	2	0	0	0	3	1	3	0	6	3	3	1	6	3	3	1	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.1402A>C	p.Ile468Leu	p.I468L	ENST00000292478	6/8	283	239	44	316	316	0	strelka-varscan-mutect	PTCD1,missense_variant,p.Ile468Leu,ENST00000292478,NM_015545.3;ATP5J2-PTCD1,missense_variant,p.Ile517Leu,ENST00000413834,NM_001198879.1;PTCD1,downstream_gene_variant,,ENST00000485746,;	G	ENST00000292478	Transcript	missense_variant	1653/5582	1402/2103	468/700	I/L	Ata/Cta		1		-1	PTCD1	HGNC	HGNC:22198	protein_coding	YES	CCDS34691.1	ENSP00000292478	O75127	A4D273	UPI0000223FFA	NM_015545.3	tolerated(0.1)		6/8		hmmpanther:PTHR24014,hmmpanther:PTHR24014:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	99425130	99425130	T	G	1	0	0	0	0	1	0	0	0	12880	1435	50	5		5	PTCD1	7	99425130	Missense_Mutation	SNP	T	C3N-00547_TP	221	99425130	59920843	281	15742											
MUC12	0	.	GRCh38	chr7	101000561	101000561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgacctaccacagcagccCgggctcaactcaaacaatgc	13	5	7	16	2	2	0	2	0	0	0	2	1	2	0	3	1	7	2	3	1	5	2	rs756629225		C3N-00547_TP	C3N-00547_NB	C	C																c.9998C>A	p.Pro3333Gln	p.P3333Q	ENST00000536621	2/12	1698	1595	103	1822	1821	1	varscan-mutect	MUC12,missense_variant,p.Pro3476Gln,ENST00000379442,;MUC12,missense_variant,p.Pro3333Gln,ENST00000536621,NM_001164462.1;	A	ENST00000536621	Transcript	missense_variant	9998/16321	9998/16008	3333/5335	P/Q	cCg/cAg	rs756629225	1		1	MUC12	HGNC	HGNC:7510	protein_coding	YES	CCDS55139.1	ENSP00000441929	Q9UKN1		UPI0001B25898	NM_001164462.1	deleterious(0)		2/12																			MODERATE	1	SNV	5			1										PASS		rs756629225	.												A	3	1	50	101000561	101000561	C	A	1	0	0	0	0	1	0	0	0	9969	652	23	1		1	MUC12	7	101000561	Missense_Mutation	SNP	C	C3N-00547_TP	1575431	101000561	58345412	282	15743											
LHFPL3	0	.	GRCh38	chr7	104329033	104329033	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgcatcggcaacggcttctCccgggagctgacctgcaggg	6	7	14	14	3	1	1	0	1	1	0	3	2	1	2	2	4	4	5	2	4	1	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.212C>G	p.Ser71Cys	p.S71C	ENST00000424859	1/3	244	156	88	299	299	0	strelka-varscan-mutect	LHFPL3,missense_variant,p.Ser71Cys,ENST00000424859,NM_199000.2;LHFPL3,missense_variant,p.Ser71Cys,ENST00000401970,;	G	ENST00000424859	Transcript	missense_variant	378/1852	212/669	71/222	S/C	tCc/tGc		1		1	LHFPL3	HGNC	HGNC:6589	protein_coding	YES		ENSP00000393128	Q86UP9		UPI000020F876	NM_199000.2	deleterious(0.01)		1/3		hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF13,Pfam_domain:PF10242																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	104329033	104329033	C	G	1	0	0	0	0	1	0	0	0	8675	855	30	4		4	LHFPL3	7	104329033	Missense_Mutation	SNP	C	C3N-00547_TP	3328472	104329033	55016940	283	15744											
PUS7	0	.	GRCh38	chr7	105495232	105495232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtaacttcccctagattttGgccaagaatgttttcttgga	10	15	8	8	0	1	2	0	0	1	2	2	3	2	3	3	2	1	2	3	2	4	8	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.752C>T	p.Pro251Leu	p.P251L	ENST00000356362	6/16	138	107	31	125	125	0	strelka-varscan-mutect	PUS7,missense_variant,p.Pro251Leu,ENST00000356362,NM_001318163.1,NM_001318164.1,NM_019042.3;PUS7,missense_variant,p.Pro251Leu,ENST00000469408,;PUS7,missense_variant,p.Pro92Leu,ENST00000482157,;PUS7,missense_variant,p.Pro251Leu,ENST00000481939,;PUS7,non_coding_transcript_exon_variant,,ENST00000487277,;	A	ENST00000356362	Transcript	missense_variant	967/3480	752/1986	251/661	P/L	cCa/cTa		1		-1	PUS7	HGNC	HGNC:26033	protein_coding	YES	CCDS34725.1	ENSP00000348722	Q96PZ0		UPI00001D483E	NM_001318163.1,NM_001318164.1,NM_019042.3	deleterious(0)		6/16		hmmpanther:PTHR13326,hmmpanther:PTHR13326:SF1,Superfamily_domains:SSF55120																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	50	105495232	105495232	G	A	1	0	0	0	0	1	0	0	0	12991	1348	47	3		3	PUS7	7	105495232	Missense_Mutation	SNP	G	C3N-00547_TP	1166199	105495232	53850741	284	15745											
RINT1	0	.	GRCh38	chr7	105542502	105542502	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaatcagtttctggagcAggaaactcatctcttcagcg	10	13	8	10	1	6	0	3	0	3	0	7	2	6	2	0	2	3	2	0	2	2	3	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.368A>G	p.Gln123Arg	p.Q123R	ENST00000257700	4/15	340	311	29	362	362	0	strelka-varscan-mutect	RINT1,missense_variant,p.Gln123Arg,ENST00000257700,NM_021930.4;RINT1,missense_variant,p.Gln92Arg,ENST00000493041,;RINT1,non_coding_transcript_exon_variant,,ENST00000477285,;RINT1,synonymous_variant,p.=,ENST00000497979,;RINT1,3_prime_UTR_variant,,ENST00000467392,;RINT1,non_coding_transcript_exon_variant,,ENST00000493258,;RINT1,downstream_gene_variant,,ENST00000482041,;	G	ENST00000257700	Transcript	missense_variant	599/2976	368/2379	123/792	Q/R	cAg/cGg		1		1	RINT1	HGNC	HGNC:21876	protein_coding	YES	CCDS34726.1	ENSP00000257700	Q6NUQ1		UPI000020F898	NM_021930.4	tolerated(0.67)		4/15		hmmpanther:PTHR13520,hmmpanther:PTHR13520:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	105542502	105542502	A	G	1	0	0	0	0	1	0	0	0	13550	188	7	5		5	RINT1	7	105542502	Missense_Mutation	SNP	A	C3N-00547_TP	47270	105542502	53803471	285	15746											
LAMB1	0	.	GRCh38	chr7	108001769	108001769	+	Frame_Shift_Del	DEL	C	C	-																															gcaacagagttggggggacaCaagcagggagtggagcccga																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.74delG	p.Cys25LeufsTer52	p.C25Lfs*52	ENST00000393561	1/32	81	73	8	103	103	0	sindel-varindel	LAMB1,frameshift_variant,p.Cys25LeufsTer52,ENST00000393561,;LAMB1,intron_variant,,ENST00000222399,NM_002291.2;LAMB1,intron_variant,,ENST00000393560,;LAMB1,intron_variant,,ENST00000439976,;LAMB1,intron_variant,,ENST00000393559,;U3,upstream_gene_variant,,ENST00000458938,;	-	ENST00000393561	Transcript	frameshift_variant	259/5766	74/5433	25/1810	C/X	tGt/tt		1		-1	LAMB1	HGNC	HGNC:6486	protein_coding			ENSP00000377191		G3XAI2	UPI0000EE4033				1/32		Low_complexity_(Seg):seg																	HIGH		deletion	5			1										PASS		.	.												-	7	5	50	108001769	108001769	C	-	1	0	1	0	1	0	0	0	0	8514	478	17	0		0	LAMB1	7	108001769	Frame_Shift_Del	DEL	C	C3N-00547_TP	2459267	108001769	51344204	286	15747	335	2									
LAMB1	0	.	GRCh38	chr7	108001770	108001770	+	Missense_Mutation	SNP	A	A	T																															caacagagttggggggacacAagcagggagtggagcccgaa																								novel		C3N-00547_TP	C3N-00547_NB	A	A																c.73T>A	p.Cys25Ser	p.C25S	ENST00000393561	1/32	88	79	9	100	100	0	strelka-mutect	LAMB1,missense_variant,p.Cys25Ser,ENST00000393561,;LAMB1,intron_variant,,ENST00000222399,NM_002291.2;LAMB1,intron_variant,,ENST00000393560,;LAMB1,intron_variant,,ENST00000439976,;LAMB1,intron_variant,,ENST00000393559,;U3,upstream_gene_variant,,ENST00000458938,;	T	ENST00000393561	Transcript	missense_variant	258/5766	73/5433	25/1810	C/S	Tgt/Agt		1		-1	LAMB1	HGNC	HGNC:6486	protein_coding			ENSP00000377191		G3XAI2	UPI0000EE4033		tolerated_low_confidence(0.54)		1/32		Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		rs1201586019	.												T	3	4	50	108001770	108001770	A	T	1	0	0	0	0	1	0	0	0	8514	130	5	4		4	LAMB1	7	108001770	Missense_Mutation	SNP	A	C3N-00547_TP	1	108001770	51344203	287	15748	335	2									
PPP1R3A	0	.	GRCh38	chr7	113878275	113878275	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataggttggctagccatggtAgtaactgcattctctacagc	10	12	10	9	0	1	0	0	0	1	0	2	0	1	0	1	3	5	5	1	3	5	7	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.2817T>C	p.=	p.T939T	ENST00000284601	4/4	206	184	22	256	256	0	strelka-varscan-mutect	PPP1R3A,synonymous_variant,p.=,ENST00000284601,NM_002711.3;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	G	ENST00000284601	Transcript	synonymous_variant	2886/4384	2817/3369	939/1122	T	acT/acC		1		-1	PPP1R3A	HGNC	HGNC:9291	protein_coding	YES	CCDS5759.1	ENSP00000284601	Q16821		UPI000013DDAA	NM_002711.3			4/4		hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2																	LOW	1	SNV	1			1										PASS		rs1162345042	.												G	2	3	50	113878275	113878275	A	G	1	0	0	0	0	0	0	0	1	12492	407	15	5		5	PPP1R3A	7	113878275	Silent	SNP	A	C3N-00547_TP	5876505	113878275	45467698	288	15749											
PTPRZ1	0	.	GRCh38	chr7	121996417	121996417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaaaatgttcaggctgacCcagagaattataccagcctt	14	9	8	10	0	1	3	1	1	0	2	1	4	1	3	3	1	2	2	3	1	5	4	rs747678780		C3N-00547_TP	C3N-00547_NB	C	C																c.964C>A	p.Pro322Thr	p.P322T	ENST00000393386	9/30	110	93	17	129	129	0	strelka-varscan-mutect	PTPRZ1,missense_variant,p.Pro322Thr,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,missense_variant,p.Pro322Thr,ENST00000449182,NM_001206839.1;	A	ENST00000393386	Transcript	missense_variant	1375/8175	964/6948	322/2315	P/T	Cca/Aca	rs747678780	1		1	PTPRZ1	HGNC	HGNC:9685	protein_coding	YES	CCDS34740.1	ENSP00000377047	P23471		UPI000020F9BB	NM_001206838.1,NM_002851.2	deleterious(0)		9/30		PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs747678780	.												A	3	1	50	121996417	121996417	C	A	1	0	0	0	0	1	0	0	0	12969	623	22	2		2	PTPRZ1	7	121996417	Missense_Mutation	SNP	C	C3N-00547_TP	8118142	121996417	37349556	289	15750											
ASB15	0	.	GRCh38	chr7	123636879	123636879	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgggtctccagaaactctgCcagccagcctcagtggagaa	11	7	11	12	0	3	2	1	0	2	2	4	3	3	2	4	2	4	0	4	2	2	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1665C>A	p.Cys555Ter	p.C555*	ENST00000451558	14/14	174	124	50	210	210	0	strelka-varscan-mutect	ASB15,stop_gained,p.Cys555Ter,ENST00000451558,;ASB15,stop_gained,p.Cys555Ter,ENST00000451215,NM_001290258.1;ASB15,stop_gained,p.Cys555Ter,ENST00000434204,;ASB15,stop_gained,p.Cys555Ter,ENST00000275699,NM_080928.4;ASB15,3_prime_UTR_variant,,ENST00000540573,;	A	ENST00000451558	Transcript	stop_gained	2186/4788	1665/1767	555/588	C/*	tgC/tgA		1		1	ASB15	HGNC	HGNC:19767	protein_coding	YES	CCDS34742.1	ENSP00000397655	Q8WXK1		UPI000022D0FF				14/14		Pfam_domain:PF07525,PROSITE_profiles:PS50225,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF47,SMART_domains:SM00253,SMART_domains:SM00969,Superfamily_domains:SSF158235																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	50	123636879	123636879	C	A	1	0	0	0	0	0	1	0	0	1161	747	26	2		2	ASB15	7	123636879	Nonsense_Mutation	SNP	C	C3N-00547_TP	1640462	123636879	35709094	290	15751											
FLNC	0	.	GRCh38	chr7	128851361	128851361	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccaaagatgctggagaagGtgagggagctgcaggtcgca	12	5	16	8	1	0	3	0	1	0	2	1	5	0	4	1	4	3	4	1	4	2	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.5668+1G>T		p.X1890_splice	ENST00000325888		406	287	119	427	426	1	strelka-varscan-mutect	FLNC,splice_donor_variant,,ENST00000325888,NM_001458.4;FLNC,splice_donor_variant,,ENST00000346177,NM_001127487.1;RP11-309L24.2,intron_variant,,ENST00000469965,;	T	ENST00000325888	Transcript	splice_donor_variant	-/9188	5668/8178	1890/2725				1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4				34/47																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	50	128851361	128851361	G	T	1	0	0	0	0	0	0	1	0	5791	1275	44	2		2	FLNC	7	128851361	Splice_Site	SNP	G	C3N-00547_TP	5214482	128851361	30494612	291	15752											
KCP	0	.	GRCh38	chr7	128892702	128892702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacctgacagtggcaggCatggcaagggctgtctgcat	9	9	14	9	0	1	1	0	1	1	0	1	1	1	1	1	4	2	6	1	4	2	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1513G>A	p.Ala505Thr	p.A505T	ENST00000610776	15/40	193	167	26	267	267	0	strelka-varscan-mutect	KCP,missense_variant,p.Ala505Thr,ENST00000610776,;KCP,missense_variant,p.Ala509Thr,ENST00000613019,;KCP,missense_variant,p.Ala448Thr,ENST00000620378,NM_001135914.1;KCP,non_coding_transcript_exon_variant,,ENST00000612224,;KCP,missense_variant,p.Ala509Thr,ENST00000611280,;KCP,non_coding_transcript_exon_variant,,ENST00000616669,;	T	ENST00000610776	Transcript	missense_variant	1556/5108	1513/4887	505/1628	A/T	Gcc/Acc		1		-1	KCP	HGNC	HGNC:17585	protein_coding	YES		ENSP00000479679		A0A087WVT8	UPI0004620CE8		tolerated(1)		15/40		PROSITE_profiles:PS50184,PROSITE_patterns:PS01208,Pfam_domain:PF00093,Gene3D:2.10.70.10,SMART_domains:SM00215,SMART_domains:SM00214,Superfamily_domains:SSF57603																	MODERATE	1	SNV	5			1										PASS		rs1271036391	.												T	3	4	50	128892702	128892702	C	T	1	0	0	0	0	1	0	0	0	8012	710	25	3		3	KCP	7	128892702	Missense_Mutation	SNP	C	C3N-00547_TP	41341	128892702	30453271	292	15753											
LRGUK	0	.	GRCh38	chr7	134127550	134127550	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatagcctcctcctacctGctccagcagctcatgcaccg	9	8	6	18	1	1	0	1	0	0	0	4	0	4	0	6	0	7	4	6	0	3	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.183G>T	p.=	p.L61L	ENST00000285928	1/20	275	239	36	350	350	0	strelka-varscan-mutect	LRGUK,synonymous_variant,p.=,ENST00000285928,NM_144648.1;LRGUK,non_coding_transcript_exon_variant,,ENST00000473068,;	T	ENST00000285928	Transcript	synonymous_variant	252/3163	183/2478	61/825	L	ctG/ctT		1		1	LRGUK	HGNC	HGNC:21964	protein_coding	YES	CCDS5830.1	ENSP00000285928	Q96M69		UPI0000072C76	NM_144648.1			1/20																			LOW	1	SNV	1			1										PASS		rs1363772180	.												T	2	4	50	134127550	134127550	G	T	1	0	0	0	0	0	0	0	1	8837	1306	46	2		2	LRGUK	7	134127550	Silent	SNP	G	C3N-00547_TP	5234848	134127550	25218423	293	15754											
AKR1B1	0	.	GRCh38	chr7	134449763	134449763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtcactgggaaccacattgCccgactcatccaatgggaaa	12	8	9	12	1	2	0	2	0	0	0	3	3	3	2	3	2	2	0	3	2	3	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.386G>C	p.Gly129Ala	p.G129A	ENST00000285930	4/10	332	249	83	358	358	0	strelka-varscan-mutect	AKR1B1,missense_variant,p.Gly129Ala,ENST00000285930,NM_001628.2;AKR1B1,non_coding_transcript_exon_variant,,ENST00000489022,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000487438,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000497983,;AKR1B1,missense_variant,p.Gly129Ala,ENST00000434222,;AKR1B1,3_prime_UTR_variant,,ENST00000426422,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000465351,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000491741,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000498771,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000484592,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000467829,;AKR1B1,upstream_gene_variant,,ENST00000467251,;AKR1B1,downstream_gene_variant,,ENST00000462784,;AKR1B1,upstream_gene_variant,,ENST00000498373,;	G	ENST00000285930	Transcript	missense_variant	466/1409	386/951	129/316	G/A	gGc/gCc		1		-1	AKR1B1	HGNC	HGNC:381	protein_coding	YES	CCDS5831.1	ENSP00000285930	P15121	A0A024R7A8	UPI000000D78E	NM_001628.2	deleterious(0.01)		4/10		Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Pfam_domain:PF00248,Superfamily_domains:SSF51430																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	134449763	134449763	C	G	1	0	0	0	0	1	0	0	0	550	739	26	4		4	AKR1B1	7	134449763	Missense_Mutation	SNP	C	C3N-00547_TP	322213	134449763	24896210	294	15755											
RAB19	0	.	GRCh38	chr7	140407669	140407669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacttctccagctcagccaGggcagcagatgagaactttg	10	8	11	12	0	2	2	1	1	1	2	3	3	2	2	2	1	4	4	2	1	1	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.23G>T	p.Arg8Met	p.R8M	ENST00000537763	2/4	160	137	23	167	167	0	strelka-varscan-mutect	RAB19,missense_variant,p.Arg8Met,ENST00000537763,NM_001008749.2;RAB19,missense_variant,p.Arg8Met,ENST00000356407,;RAB19,missense_variant,p.Arg8Met,ENST00000495590,;SLC37A3,upstream_gene_variant,,ENST00000491505,;SLC37A3,upstream_gene_variant,,ENST00000493423,;	T	ENST00000537763	Transcript	missense_variant	221/952	23/654	8/217	R/M	aGg/aTg		1		1	RAB19	HGNC	HGNC:19982	protein_coding	YES	CCDS34762.2	ENSP00000440167	A4D1S5		UPI000013DA89	NM_001008749.2	tolerated(0.19)		2/4																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	50	140407669	140407669	G	T	1	0	0	0	0	1	0	0	0	13062	1000	35	2		2	RAB19	7	140407669	Missense_Mutation	SNP	G	C3N-00547_TP	5957906	140407669	18938304	295	15756											
MGAM2	0	.	GRCh38	chr7	142132017	142132017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgatgcctccaatttgagCtattacgtggaggttactga	9	13	11	8	1	0	3	0	3	0	0	1	4	1	4	2	2	4	3	2	2	4	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.507C>T	p.=	p.S169S	ENST00000477922	6/48	134	127	7	147	146	1	strelka-varscan	MGAM2,synonymous_variant,p.=,ENST00000477922,NM_001293626.1;MGAM2,synonymous_variant,p.=,ENST00000550469,;	T	ENST00000477922	Transcript	synonymous_variant	561/7867	507/7548	169/2515	S	agC/agT		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1			6/48		Pfam_domain:PF16863,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF55,Superfamily_domains:SSF74650																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	50	142132017	142132017	C	T	1	0	0	0	0	0	0	0	1	9500	796	28	3		3	MGAM2	7	142132017	Silent	SNP	C	C3N-00547_TP	1724348	142132017	17213956	296	15757											
PRSS1	0	.	GRCh38	chr7	142752445	142752445	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcacagccgactacccagacGagctgcagtgcctggatgct	9	7	11	14	2	1	1	1	0	0	1	1	4	1	2	3	1	6	3	3	1	1	1	rs200890507		C3N-00547_TP	C3N-00547_NB	G	G																c.469G>C	p.Glu157Gln	p.E157Q	ENST00000311737	4/5	423	391	32	506	506	0	varscan-mutect	PRSS1,missense_variant,p.Glu171Gln,ENST00000486171,;PRSS1,missense_variant,p.Glu157Gln,ENST00000612126,;PRSS1,missense_variant,p.Glu157Gln,ENST00000311737,NM_002769.4;PRSS1,missense_variant,p.Glu147Gln,ENST00000619214,;PRSS1,missense_variant,p.Glu107Gln,ENST00000492062,;TRBC2,intron_variant,,ENST00000637077,;TRBC2,intron_variant,,ENST00000610416,;TRBC2,intron_variant,,ENST00000636844,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,;	C	ENST00000311737	Transcript	missense_variant	475/800	469/744	157/247	E/Q	Gag/Cag	rs200890507,COSM3634905	1		1	PRSS1	HGNC	HGNC:9475	protein_coding	YES	CCDS5872.1	ENSP00000308720	P07477		UPI0000001309	NM_002769.4	tolerated(0.59)		4/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24264:SF12,hmmpanther:PTHR24264,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs200890507	.												C	3	2	50	142752445	142752445	G	C	1	0	0	0	0	1	0	0	0	12761	1059	37	4		4	PRSS1	7	142752445	Missense_Mutation	SNP	G	C3N-00547_TP	620428	142752445	16593528	297	15758											
OR6V1	0	.	GRCh38	chr7	143052401	143052401	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttctcctcctttggtgagCtgcaggcccttctgtatggc	3	14	11	13	0	2	1	0	1	2	0	4	1	3	1	3	3	2	4	3	3	1	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.61C>A	p.Leu21Met	p.L21M	ENST00000418316	1/1	145	107	38	150	150	0	strelka-varscan-mutect	OR6V1,missense_variant,p.Leu21Met,ENST00000418316,NM_001001667.1;OR9P1P,upstream_gene_variant,,ENST00000496431,;	A	ENST00000418316	Transcript	missense_variant	82/1028	61/942	21/313	L/M	Ctg/Atg		1		1	OR6V1	HGNC	HGNC:15090	protein_coding	YES	CCDS47728.1	ENSP00000396085	Q8N148	A0A126GWQ4	UPI0000041C19	NM_001001667.1	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	50	143052401	143052401	C	A	1	0	0	0	0	1	0	0	0	11281	796	28	2		2	OR6V1	7	143052401	Missense_Mutation	SNP	C	C3N-00547_TP	299956	143052401	16293572	298	15759											
TAS2R41	0	.	GRCh38	chr7	143478105	143478105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagaaggtcgagtactctgGgggtctcggccgacagttct	7	9	14	11	3	3	1	0	0	3	1	5	3	3	1	2	4	1	2	2	4	2	2			C3N-00547_TP	C3N-00547_NB	G	G																c.233G>T	p.Gly78Val	p.G78V	ENST00000408916	1/1	156	112	44	214	214	0	strelka-varscan-mutect	TAS2R41,missense_variant,p.Gly78Val,ENST00000408916,NM_176883.2;EPHA1-AS1,intron_variant,,ENST00000429289,;	T	ENST00000408916	Transcript	missense_variant	233/924	233/924	78/307	G/V	gGg/gTg	COSM3635314	1		1	TAS2R41	HGNC	HGNC:18883	protein_coding	YES	CCDS43663.1	ENSP00000386201	P59536		UPI000000D823	NM_176883.2	tolerated(0.46)		1/1		hmmpanther:PTHR11394:SF73,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						MODERATE		SNV			1	1										PASS		.	.												T	3	4	50	143478105	143478105	G	T	1	0	0	0	0	1	0	0	0	15978	1232	43	2		2	TAS2R41	7	143478105	Missense_Mutation	SNP	G	C3N-00547_TP	425704	143478105	15867868	299	15760											
CNTNAP2	0	.	GRCh38	chr7	147486009	147486009	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaatgcacttgtgatgAgacaggatacagtggggcca	12	9	12	8	0	1	2	1	2	0	1	1	4	1	3	1	3	2	1	1	3	2	3	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1745A>G	p.Glu582Gly	p.E582G	ENST00000361727	11/24	143	87	56	179	179	0	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Glu582Gly,ENST00000361727,NM_014141.5;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637694,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637825,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,;	G	ENST00000361727	Transcript	missense_variant	2263/9896	1745/3996	582/1331	E/G	gAg/gGg		1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	tolerated(1)		11/24		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	147486009	147486009	A	G	1	0	0	0	0	1	0	0	0	3428	304	11	5		5	CNTNAP2	7	147486009	Missense_Mutation	SNP	A	C3N-00547_TP	4007904	147486009	11859964	300	15761											
ZNF746	0	.	GRCh38	chr7	149474740	149474740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcagcatgcgatggcGgatgaggtgcgcggggcgcg	5	6	22	8	6	0	1	0	1	0	0	0	3	0	2	0	6	4	2	0	6	0	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1582C>T	p.Arg528Cys	p.R528C	ENST00000458143	7/7	131	119	12	158	158	0	strelka-varscan-mutect	ZNF746,missense_variant,p.Arg527Cys,ENST00000340622,NM_152557.4;ZNF746,missense_variant,p.Arg528Cys,ENST00000458143,NM_001163474.1;ZNF746,downstream_gene_variant,,ENST00000471735,;	A	ENST00000458143	Transcript	missense_variant	1853/3797	1582/1938	528/645	R/C	Cgc/Tgc		1		-1	ZNF746	HGNC	HGNC:21948	protein_coding	YES	CCDS55180.1	ENSP00000395007	Q6NUN9		UPI00015DA840	NM_001163474.1	deleterious(0)		7/7		PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF13,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	50	149474740	149474740	G	A	1	0	0	0	0	1	0	0	0	18712	1116	39	1		1	ZNF746	7	149474740	Missense_Mutation	SNP	G	C3N-00547_TP	1988731	149474740	9871233	301	15762											
SSPO	0	.	GRCh38	chr7	149815718	149815718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaccagagccgctcagcaGggtctaggtttagctcctgg	9	8	13	11	1	2	2	1	0	1	2	3	2	3	2	3	3	4	4	3	3	3	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.10816G>A	p.Gly3606Arg	p.G3606R	ENST00000378016	75/107	152	138	14	123	123	0	strelka-varscan-mutect	SSPO,missense_variant,p.Gly3606Arg,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,downstream_gene_variant,,ENST00000481772,;	A	ENST00000378016	Transcript	missense_variant	10816/15589	10816/15453	3606/5150	G/R	Ggg/Agg		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2	tolerated(0.07)		75/107		hmmpanther:PTHR11339:SF294,hmmpanther:PTHR11339																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	149815718	149815718	G	A	1	0	0	0	0	1	0	0	0	15566	1000	35	3		3	SSPO	7	149815718	Missense_Mutation	SNP	G	C3N-00547_TP	340978	149815718	9530255	302	15763											
NKX2-6	0	.	GRCh38	chr8	23703063	23703063	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgccgccgaggggcgaGgccgcgttcaggccgggctc	3	4	18	16	7	1	0	1	0	0	0	3	2	2	0	5	5	0	2	5	5	0	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.294C>A	p.=	p.A98A	ENST00000325017	2/2	145	86	59	292	292	0	strelka-varscan-mutect	NKX2-6,synonymous_variant,p.=,ENST00000325017,NM_001136271.2;RP11-175E9.1,upstream_gene_variant,,ENST00000523874,;	T	ENST00000325017	Transcript	synonymous_variant	294/906	294/906	98/301	A	gcC/gcA		1		-1	NKX2-6	HGNC	HGNC:32940	protein_coding	YES		ENSP00000320089	A6NCS4		UPI000016092C	NM_001136271.2			2/2		hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF39																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	50	23703063	23703063	G	T	1	0	0	0	0	0	0	0	1	10490	987	35	2		2	NKX2-6	8	23703063	Silent	SNP	G	C3N-00547_TP		23703063	121435573	303	15764											
EXTL3	0	.	GRCh38	chr8	28717295	28717295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccagcctgccgactgagtgGgcactgtgtggagagcggga	7	6	17	11	2	0	2	0	1	0	1	0	5	0	3	3	3	3	1	3	3	0	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1236G>T	p.Trp412Cys	p.W412C	ENST00000220562	3/7	216	145	71	174	174	0	strelka-varscan-mutect	EXTL3,missense_variant,p.Trp412Cys,ENST00000220562,NM_001440.3;EXTL3,missense_variant,p.Trp28Cys,ENST00000523149,;EXTL3,intron_variant,,ENST00000521532,;EXTL3,upstream_gene_variant,,ENST00000521473,;EXTL3,intron_variant,,ENST00000519886,;EXTL3,downstream_gene_variant,,ENST00000518223,;EXTL3,downstream_gene_variant,,ENST00000522725,;EXTL3,downstream_gene_variant,,ENST00000520940,;EXTL3,downstream_gene_variant,,ENST00000454906,;EXTL3,downstream_gene_variant,,ENST00000519288,;EXTL3,intron_variant,,ENST00000522698,;	T	ENST00000220562	Transcript	missense_variant	2138/6483	1236/2760	412/919	W/C	tgG/tgT		1		1	EXTL3	HGNC	HGNC:3518	protein_coding	YES	CCDS6070.1	ENSP00000220562	O43909		UPI000012A35D	NM_001440.3	deleterious(0)		3/7		hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF73,Pfam_domain:PF03016																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	28717295	28717295	G	T	1	0	0	0	0	1	0	0	0	5195	1241	43	2		2	EXTL3	8	28717295	Missense_Mutation	SNP	G	C3N-00547_TP	5014232	28717295	116421341	304	15765											
KIF13B	0	.	GRCh38	chr8	29071844	29071844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggggagcagccggggtccCcagccagcatgcgcgagaag	8	2	17	14	4	0	1	0	0	0	1	1	3	1	2	5	4	5	2	5	4	1	0	rs764968047		C3N-00547_TP	C3N-00547_NB	C	C																c.4994G>A	p.Gly1665Glu	p.G1665E	ENST00000524189	39/40	235	207	28	352	352	0	strelka-varscan-mutect	KIF13B,missense_variant,p.Gly1665Glu,ENST00000524189,NM_015254.3;KIF13B,missense_variant,p.Gly257Glu,ENST00000523130,;CTD-2647L4.5,downstream_gene_variant,,ENST00000560714,;	T	ENST00000524189	Transcript	missense_variant	5033/8745	4994/5481	1665/1826	G/E	gGg/gAg	rs764968047	1		-1	KIF13B	HGNC	HGNC:14405	protein_coding	YES	CCDS55217.1	ENSP00000427900	Q9NQT8		UPI000035B257	NM_015254.3	tolerated_low_confidence(0.32)		39/40																			MODERATE	1	SNV	1			1										PASS		rs764968047	.												T	3	4	50	29071844	29071844	C	T	1	0	0	0	0	1	0	0	0	8139	623	22	3		3	KIF13B	8	29071844	Missense_Mutation	SNP	C	C3N-00547_TP	354549	29071844	116066792	305	15766											
RAB11FIP1	0	.	GRCh38	chr8	37862939	37862939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctgagtcgggatgcggaGgatattgggggtttcttcca	8	11	15	7	2	1	1	0	1	1	0	3	4	2	4	2	5	2	1	2	5	2	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.3808C>T	p.Leu1270Phe	p.L1270F	ENST00000330843	6/6	214	189	25	160	160	0	strelka-varscan-mutect	RAB11FIP1,missense_variant,p.Leu1270Phe,ENST00000330843,NM_001002814.2;RAB11FIP1,missense_variant,p.Leu636Phe,ENST00000287263,NM_025151.4;RAB11FIP1,missense_variant,p.Leu488Phe,ENST00000522727,;RAB11FIP1,non_coding_transcript_exon_variant,,ENST00000523182,;RP11-205M5.3,downstream_gene_variant,,ENST00000622942,;RAB11FIP1,non_coding_transcript_exon_variant,,ENST00000522774,;	A	ENST00000330843	Transcript	missense_variant	3821/7811	3808/3852	1270/1283	L/F	Ctc/Ttc		1		-1	RAB11FIP1	HGNC	HGNC:30265	protein_coding	YES	CCDS34882.1	ENSP00000331342	Q6WKZ4		UPI0000D624B1	NM_001002814.2	deleterious(0)		6/6		PROSITE_profiles:PS51511,hmmpanther:PTHR15746,hmmpanther:PTHR15746:SF22,Pfam_domain:PF09457,Superfamily_domains:SSF144270																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	37862939	37862939	G	A	1	0	0	0	0	1	0	0	0	13051	1000	35	3		3	RAB11FIP1	8	37862939	Missense_Mutation	SNP	G	C3N-00547_TP	8791095	37862939	107275697	306	15767											
DDHD2	0	.	GRCh38	chr8	38252168	38252168	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggctcatctataaaccaGagatattctttgcctttgga	10	13	7	11	1	3	1	1	0	2	1	3	3	3	2	3	2	2	1	3	2	4	6	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1498G>T	p.Glu500Ter	p.E500*	ENST00000397166	13/18	204	130	74	141	141	0	strelka-varscan-mutect	DDHD2,stop_gained,p.Glu500Ter,ENST00000397166,NM_015214.2;DDHD2,stop_gained,p.Glu500Ter,ENST00000520272,NM_001164232.1;DDHD2,stop_gained,p.Glu119Ter,ENST00000517385,;DDHD2,stop_gained,p.Glu2Ter,ENST00000526144,;DDHD2,5_prime_UTR_variant,,ENST00000529845,;DDHD2,upstream_gene_variant,,ENST00000528613,;DDHD2,downstream_gene_variant,,ENST00000532106,;DDHD2,downstream_gene_variant,,ENST00000528888,;DDHD2,non_coding_transcript_exon_variant,,ENST00000520176,;DDHD2,non_coding_transcript_exon_variant,,ENST00000528504,;DDHD2,non_coding_transcript_exon_variant,,ENST00000528148,;DDHD2,downstream_gene_variant,,ENST00000527415,;DDHD2,upstream_gene_variant,,ENST00000524545,;	T	ENST00000397166	Transcript	stop_gained	2023/4921	1498/2136	500/711	E/*	Gag/Tag		1		1	DDHD2	HGNC	HGNC:29106	protein_coding	YES	CCDS34883.1	ENSP00000380352	O94830		UPI0000160E07	NM_015214.2			13/18		PROSITE_profiles:PS51043,hmmpanther:PTHR23509,hmmpanther:PTHR23509:SF7,Pfam_domain:PF02862,SMART_domains:SM01127																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	50	38252168	38252168	G	T	1	0	0	0	0	0	1	0	0	4130	943	33	2		2	DDHD2	8	38252168	Nonsense_Mutation	SNP	G	C3N-00547_TP	389229	38252168	106886468	307	15768											
PLEKHA2	0	.	GRCh38	chr8	38952222	38952222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccacaccatccttcgaagGtctcagagttacatccccac	10	9	5	17	1	1	1	1	0	1	1	6	2	4	1	5	1	1	1	5	1	2	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.543G>T	p.Arg181Ser	p.R181S	ENST00000617275	7/12	272	213	59	146	146	0	strelka-varscan-mutect	PLEKHA2,missense_variant,p.Arg181Ser,ENST00000617275,NM_021623.1;PLEKHA2,missense_variant,p.Arg132Ser,ENST00000616834,;PLEKHA2,missense_variant,p.Arg181Ser,ENST00000521746,;PLEKHA2,missense_variant,p.Arg131Ser,ENST00000616927,;PLEKHA2,upstream_gene_variant,,ENST00000521382,;PLEKHA2,non_coding_transcript_exon_variant,,ENST00000518070,;	T	ENST00000617275	Transcript	missense_variant	721/5582	543/1278	181/425	R/S	agG/agT		1		1	PLEKHA2	HGNC	HGNC:14336	protein_coding	YES	CCDS75732.1	ENSP00000482228		A8K727	UPI0001596C50	NM_021623.1	deleterious(0.02)		7/12		hmmpanther:PTHR14336,hmmpanther:PTHR14336:SF5,Superfamily_domains:SSF50729																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	50	38952222	38952222	G	T	1	0	0	0	0	1	0	0	0	12149	1252	44	2		2	PLEKHA2	8	38952222	Missense_Mutation	SNP	G	C3N-00547_TP	700054	38952222	106186414	308	15769											
PXDNL	0	.	GRCh38	chr8	51408593	51408593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggctgtaggtgatgtGctgcagctccgcgcccacga	6	8	14	13	3	0	1	0	1	0	0	1	2	1	1	3	2	3	5	3	2	1	1			C3N-00547_TP	C3N-00547_NB	G	G																c.3031C>A	p.His1011Asn	p.H1011N	ENST00000356297	17/23	265	188	77	184	184	0	strelka-varscan-mutect	PXDNL,missense_variant,p.His1011Asn,ENST00000356297,NM_144651.4;PXDNL,missense_variant,p.His130Asn,ENST00000522933,;PXDNL,missense_variant,p.His277Asn,ENST00000522628,;	T	ENST00000356297	Transcript	missense_variant	3132/4805	3031/4392	1011/1463	H/N	Cac/Aac	COSM2718415,COSM2718416	1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4	deleterious(0)		17/23		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	50	51408593	51408593	G	T	1	0	0	0	0	1	0	0	0	13002	1319	46	2		2	PXDNL	8	51408593	Missense_Mutation	SNP	G	C3N-00547_TP	12456371	51408593	93730043	309	15770											
PCMTD1	0	.	GRCh38	chr8	51861115	51861115	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaattatcaattaagtCatcattatcttccccagcac	13	16	2	10	0	4	0	3	0	1	0	5	0	5	0	2	0	1	1	2	0	6	6	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.37G>T	p.Asp13Tyr	p.D13Y	ENST00000360540	3/7	208	148	60	139	139	0	strelka-varscan-mutect	PCMTD1,missense_variant,p.Asp13Tyr,ENST00000360540,NM_052937.3;PCMTD1,missense_variant,p.Asp13Tyr,ENST00000521344,;PCMTD1,missense_variant,p.Asp13Tyr,ENST00000522514,;PCMTD1,intron_variant,,ENST00000544451,NM_001286782.1;PCMTD1,intron_variant,,ENST00000519559,;PCMTD1,non_coding_transcript_exon_variant,,ENST00000521046,;PCMTD1,upstream_gene_variant,,ENST00000519975,;	A	ENST00000360540	Transcript	missense_variant	444/4252	37/1074	13/357	D/Y	Gac/Tac		1		-1	PCMTD1	HGNC	HGNC:30483	protein_coding	YES	CCDS6148.1	ENSP00000353739	Q96MG8		UPI0000047CC0	NM_052937.3	deleterious(0)		3/7		Gene3D:3.40.50.150,Pfam_domain:PF01135,hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF4																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	51861115	51861115	C	A	1	0	0	0	0	1	0	0	0	11674	826	29	2		2	PCMTD1	8	51861115	Missense_Mutation	SNP	C	C3N-00547_TP	452522	51861115	93277521	310	15771											
RP1	0	.	GRCh38	chr8	54630045	54630045	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaaatacacaagacctcAgcggtcagacaaatgaaatc	18	7	6	10	1	3	3	3	1	0	2	4	3	3	3	1	1	2	0	1	1	5	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.6163A>T	p.Ser2055Cys	p.S2055C	ENST00000220676	4/4	440	291	149	572	572	0	strelka-varscan-mutect	RP1,missense_variant,p.Ser2055Cys,ENST00000220676,NM_006269.1;RP1,intron_variant,,ENST00000637698,;RP1,intron_variant,,ENST00000636932,;	T	ENST00000220676	Transcript	missense_variant	6311/7100	6163/6471	2055/2156	S/C	Agc/Tgc		1		1	RP1	HGNC	HGNC:10263	protein_coding	YES	CCDS6160.1	ENSP00000220676	P56715		UPI000013455B	NM_006269.1	tolerated(0.06)		4/4		hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	54630045	54630045	A	T	1	0	0	0	0	1	0	0	0	13709	188	7	4		4	RP1	8	54630045	Missense_Mutation	SNP	A	C3N-00547_TP	2768930	54630045	90508591	311	15772											
TRPA1	0	.	GRCh38	chr8	72057749	72057749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttacaatattccaaGatgcagaagcagttgctaat	16	11	7	7	0	0	2	0	0	0	2	1	2	1	2	1	0	4	5	1	0	7	6	rs764839830		C3N-00547_TP	C3N-00547_NB	G	G																c.1061C>A	p.Ser354Tyr	p.S354Y	ENST00000262209	9/27	431	408	23	355	355	0	strelka-varscan-mutect	TRPA1,missense_variant,p.Ser354Tyr,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Ser206Tyr,ENST00000523582,;MSC-AS1,intron_variant,,ENST00000518916,;MSC-AS1,intron_variant,,ENST00000519068,;MSC-AS1,downstream_gene_variant,,ENST00000457356,;MSC-AS1,downstream_gene_variant,,ENST00000522519,;MSC-AS1,downstream_gene_variant,,ENST00000512290,;TRPA1,upstream_gene_variant,,ENST00000520788,;	T	ENST00000262209	Transcript	missense_variant	1269/5223	1061/3360	354/1119	S/Y	tCt/tAt	rs764839830,COSM1101514,COSM4865571	1		-1	TRPA1	HGNC	HGNC:497	protein_coding	YES	CCDS34908.1	ENSP00000262209	O75762		UPI000021081A	NM_007332.2	deleterious(0)		9/27		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF6,SMART_domains:SM00248,Superfamily_domains:SSF48403											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs764839830	.												T	3	4	50	72057749	72057749	G	T	1	0	0	0	0	1	0	0	0	17082	942	33	2		2	TRPA1	8	72057749	Missense_Mutation	SNP	G	C3N-00547_TP	17427704	72057749	73080887	312	15773											
ZFHX4	0	.	GRCh38	chr8	76707951	76707951	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattggcaaccctgttcaccTaaaatgtaacgcctgtgact	11	11	7	12	1	1	1	1	1	0	0	1	1	1	1	3	1	2	3	3	1	4	4	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.2996T>A	p.Leu999Gln	p.L999Q	ENST00000521891	3/11	275	235	40	241	241	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Leu999Gln,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Leu973Gln,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	A	ENST00000521891	Transcript	missense_variant	3444/14019	2996/10851	999/3616	L/Q	cTa/cAa		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0)		3/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00355																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	76707951	76707951	T	A	1	0	0	0	0	1	0	0	0	18213	1522	53	4		4	ZFHX4	8	76707951	Missense_Mutation	SNP	T	C3N-00547_TP	4650202	76707951	68430685	313	15774											
ZFHX4	0	.	GRCh38	chr8	76855352	76855352	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgattaatacggcaatcAgtgacgccaccaccggagac	13	6	9	13	4	1	2	1	1	0	1	2	4	1	2	3	2	1	1	3	2	3	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.8431A>T	p.Ser2811Cys	p.S2811C	ENST00000521891	10/11	287	146	141	239	239	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Ser2811Cys,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Ser2785Cys,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	T	ENST00000521891	Transcript	missense_variant	8879/14019	8431/10851	2811/3616	S/C	Agt/Tgt		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0)		10/11																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	76855352	76855352	A	T	1	0	0	0	0	1	0	0	0	18213	188	7	4		4	ZFHX4	8	76855352	Missense_Mutation	SNP	A	C3N-00547_TP	147401	76855352	68283284	314	15775											
C8orf59	0	.	GRCh38	chr8	85217286	85217286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctttctaggaaaaatGaagaacctttttaaaaagta	17	13	5	6	0	1	2	0	1	1	1	1	3	1	3	2	1	2	1	2	1	10	7	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.121C>A	p.His41Asn	p.H41N	ENST00000321777	4/4	194	182	12	126	126	0	strelka-mutect	C8orf59,missense_variant,p.His41Asn,ENST00000321777,;C8orf59,intron_variant,,ENST00000619594,NM_001099673.2;C8orf59,intron_variant,,ENST00000523281,;C8orf59,intron_variant,,ENST00000614462,NM_001293320.1;C8orf59,intron_variant,,ENST00000612977,NM_001099671.2,NM_001099670.2;C8orf59,intron_variant,,ENST00000611854,;C8orf59,intron_variant,,ENST00000545322,;C8orf59,intron_variant,,ENST00000615697,;C8orf59,intron_variant,,ENST00000612809,NM_001099672.2;E2F5,downstream_gene_variant,,ENST00000418930,NM_001083588.1;E2F5,downstream_gene_variant,,ENST00000416274,NM_001951.3;E2F5,downstream_gene_variant,,ENST00000521429,;E2F5,downstream_gene_variant,,ENST00000517476,NM_001083589.1;E2F5,downstream_gene_variant,,ENST00000518234,;E2F5,downstream_gene_variant,,ENST00000520225,;CA13,upstream_gene_variant,,ENST00000517298,;CA13,upstream_gene_variant,,ENST00000517831,;CA13,upstream_gene_variant,,ENST00000522631,;C8orf59,non_coding_transcript_exon_variant,,ENST00000523245,;E2F5,downstream_gene_variant,,ENST00000256117,;C8orf59,downstream_gene_variant,,ENST00000518786,;C8orf59,downstream_gene_variant,,ENST00000521286,;C8orf59,upstream_gene_variant,,ENST00000615071,;	T	ENST00000321777	Transcript	missense_variant	199/325	121/132	41/43	H/N	Cat/Aat		1		-1	C8orf59	HGNC	HGNC:32235	protein_coding			ENSP00000319020	Q8N0T1		UPI000006F8D5		tolerated_low_confidence(0.29)		4/4																			MODERATE		SNV	1			1										PASS		rs1425055245	.												T	3	4	50	85217286	85217286	G	T	1	0	0	0	0	1	0	0	0	2162	1290	45	2		2	C8orf59	8	85217286	Missense_Mutation	SNP	G	C3N-00547_TP	8361934	85217286	59921350	315	15776											
SLC7A13	0	.	GRCh38	chr8	86229696	86229696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcagcatcaaaagcattCtgaaatcgttctacattctc	13	13	5	10	1	5	1	2	1	3	0	7	1	5	1	0	0	3	4	0	0	4	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.582G>T	p.Gln194His	p.Q194H	ENST00000297524	1/4	290	144	146	231	231	0	strelka-varscan-mutect	SLC7A13,missense_variant,p.Gln194His,ENST00000297524,NM_138817.2;SLC7A13,missense_variant,p.Gln194His,ENST00000419776,;SLC7A13,intron_variant,,ENST00000520624,;	A	ENST00000297524	Transcript	missense_variant	686/1878	582/1413	194/470	Q/H	caG/caT		1		-1	SLC7A13	HGNC	HGNC:23092	protein_coding	YES	CCDS34917.1	ENSP00000297524	Q8TCU3		UPI000006DF39	NM_138817.2	deleterious(0.03)		1/4		hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF238,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	86229696	86229696	C	A	1	0	0	0	0	1	0	0	0	14978	912	32	2		2	SLC7A13	8	86229696	Missense_Mutation	SNP	C	C3N-00547_TP	1012410	86229696	58908940	316	15777											
GEM	0	.	GRCh38	chr8	94250501	94250501	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcacctgtcgcacaatgcCctcaaacagctccttcacgt	9	8	7	17	3	2	0	2	0	0	0	4	0	3	0	3	0	3	3	3	0	2	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.700G>T	p.Gly234Cys	p.G234C	ENST00000297596	5/5	351	193	158	282	282	0	strelka-varscan-mutect	GEM,missense_variant,p.Gly234Cys,ENST00000297596,NM_005261.3;GEM,missense_variant,p.Gly234Cys,ENST00000396194,NM_181702.2;	A	ENST00000297596	Transcript	missense_variant	965/2208	700/891	234/296	G/C	Ggc/Tgc		1		-1	GEM	HGNC	HGNC:4234	protein_coding	YES	CCDS6261.1	ENSP00000297596	P55040	A0A024R9F5	UPI000012B3BC	NM_005261.3	deleterious(0)		5/5		PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF192,Pfam_domain:PF00071,Gene3D:3.40.50.300,PIRSF_domain:PIRSF038017,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	94250501	94250501	C	A	1	0	0	0	0	1	0	0	0	6202	623	22	2		2	GEM	8	94250501	Missense_Mutation	SNP	C	C3N-00547_TP	8020805	94250501	50888135	317	15778											
VPS13B	0	.	GRCh38	chr8	99779024	99779024	+	Frame_Shift_Del	DEL	G	G	-																															aaacactgcaatacaagcttGgcaacaggtatgcacattcc																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.7848delG	p.Trp2616CysfsTer9	p.W2616Cfs*9	ENST00000358544	42/62	321	165	156	264	264	0	sindel-varindel-pindel	VPS13B,frameshift_variant,p.Trp2616CysfsTer9,ENST00000358544,NM_017890.4;VPS13B,frameshift_variant,p.Trp2591CysfsTer9,ENST00000357162,NM_152564.4;VPS13B,downstream_gene_variant,,ENST00000518569,;	-	ENST00000358544	Transcript	frameshift_variant	7958/14094	7847/12069	2616/4022	W/X	tGg/tg		1		1	VPS13B	HGNC	HGNC:2183	protein_coding	YES	CCDS6280.1	ENSP00000351346	Q7Z7G8		UPI00001D2D35	NM_017890.4			42/62		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	50	99779024	99779024	G	-	1	0	1	0	1	0	0	0	0	17737	1357	47	0		0	VPS13B	8	99779024	Frame_Shift_Del	DEL	G	C3N-00547_TP	5528523	99779024	45359612	318	15779											
RGS22	0	.	GRCh38	chr8	100052802	100052802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgaatgtacaccctacCtggatctcaggtatctgtgg	10	11	10	10	0	2	1	1	1	2	0	3	2	2	2	2	3	3	3	2	3	4	3			C3N-00547_TP	C3N-00547_NB	C	C																c.1689G>T	p.Gln563His	p.Q563H	ENST00000360863	10/28	169	157	12	91	90	1	strelka-varscan-mutect	RGS22,missense_variant,p.Gln563His,ENST00000360863,NM_015668.4;RGS22,missense_variant,p.Gln551His,ENST00000617334,;RGS22,missense_variant,p.Gln382His,ENST00000523287,NM_001286693.1;RGS22,missense_variant,p.Gln551His,ENST00000523437,NM_001286692.1;RGS22,intron_variant,,ENST00000517828,;RGS22,upstream_gene_variant,,ENST00000524182,;RGS22,splice_region_variant,,ENST00000519725,;RGS22,splice_region_variant,,ENST00000520923,;	A	ENST00000360863	Transcript	missense_variant,splice_region_variant	1884/4296	1689/3795	563/1264	Q/H	caG/caT	COSM5234924,COSM5234925	1		-1	RGS22	HGNC	HGNC:24499	protein_coding	YES	CCDS43758.1	ENSP00000354109	Q8NE09		UPI0000E5AF25	NM_015668.4	tolerated(0.21)		10/28		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF177											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	50	100052802	100052802	C	A	1	0	0	0	0	1	0	0	0	13476	695	24	2		2	RGS22	8	100052802	Missense_Mutation	SNP	C	C3N-00547_TP	273778	100052802	45085834	319	15780											
NCALD	0	.	GRCh38	chr8	101692812	101692812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctctattggtgtccatctGgcggaagatcttttctgttc	5	17	10	9	1	4	1	0	0	4	1	7	2	5	2	1	3	0	1	1	3	2	5	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.463C>A	p.Gln155Lys	p.Q155K	ENST00000395923	5/6	303	268	35	238	238	0	strelka-varscan-mutect	NCALD,missense_variant,p.Gln155Lys,ENST00000395923,NM_001040630.1;NCALD,missense_variant,p.Gln155Lys,ENST00000311028,NM_001040627.1,NM_001040629.1,NM_001040624.1,NM_001040626.1;NCALD,missense_variant,p.Gln155Lys,ENST00000220931,NM_032041.2;NCALD,missense_variant,p.Gln155Lys,ENST00000521599,NM_001040628.1,NM_001040625.1;NCALD,missense_variant,p.Gln155Lys,ENST00000519508,;NCALD,missense_variant,p.Gln155Lys,ENST00000522951,;NCALD,intron_variant,,ENST00000522448,;NCALD,downstream_gene_variant,,ENST00000520690,;KB-1107E3.1,downstream_gene_variant,,ENST00000518749,;NCALD,non_coding_transcript_exon_variant,,ENST00000522754,;	T	ENST00000395923	Transcript	missense_variant	923/3808	463/582	155/193	Q/K	Cag/Aag		1		-1	NCALD	HGNC	HGNC:7655	protein_coding	YES	CCDS6292.1	ENSP00000379256	P61601	B2RB70	UPI0000004090	NM_001040630.1	tolerated(0.73)		5/6		Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_profiles:PS50222,hmmpanther:PTHR23055,hmmpanther:PTHR23055:SF87,SMART_domains:SM00054,Superfamily_domains:SSF47473																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	50	101692812	101692812	G	T	1	0	0	0	0	1	0	0	0	10217	1357	47	2		2	NCALD	8	101692812	Missense_Mutation	SNP	G	C3N-00547_TP	1640010	101692812	43445824	320	15781											
SLC25A32	0	.	GRCh38	chr8	103403290	103403290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ataaggcgagtttttgttacCcataatgggtttgtaatgca	11	15	10	5	1	0	0	0	0	0	0	0	1	0	0	1	2	2	5	1	2	4	7	rs778230086		C3N-00547_TP	C3N-00547_NB	C	C																c.426G>C	p.Trp142Cys	p.W142C	ENST00000297578	4/7	168	140	28	104	104	0	strelka-varscan-mutect	SLC25A32,missense_variant,p.Trp142Cys,ENST00000297578,NM_030780.4;SLC25A32,upstream_gene_variant,,ENST00000523701,;SLC25A32,missense_variant,p.Gly114Arg,ENST00000523866,;SLC25A32,intron_variant,,ENST00000521645,;SLC25A32,intron_variant,,ENST00000523256,;	G	ENST00000297578	Transcript	missense_variant	593/2891	426/948	142/315	W/C	tgG/tgC	rs778230086	1		-1	SLC25A32	HGNC	HGNC:29683	protein_coding	YES	CCDS6300.1	ENSP00000297578	Q9H2D1	A0A024R9D0	UPI0000040C0F	NM_030780.4	deleterious(0)		4/7		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF62																	MODERATE	1	SNV	1			1										PASS		rs778230086	.												G	3	3	50	103403290	103403290	C	G	1	0	0	0	0	1	0	0	0	14761	624	22	4		4	SLC25A32	8	103403290	Missense_Mutation	SNP	C	C3N-00547_TP	1710478	103403290	41735346	321	15782											
ZFPM2	0	.	GRCh38	chr8	105802569	105802569	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctagagatggacgtgccCatagatctcagcaaaaagtg	13	8	11	9	1	1	2	1	0	1	2	2	4	1	3	2	1	3	1	2	1	4	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2487C>A	p.=	p.P829P	ENST00000407775	8/8	641	293	348	430	430	0	strelka-varscan-mutect	ZFPM2,synonymous_variant,p.=,ENST00000407775,NM_012082.3;ZFPM2,synonymous_variant,p.=,ENST00000520492,;ZFPM2,synonymous_variant,p.=,ENST00000517361,;ZFPM2-AS1,intron_variant,,ENST00000524045,;ZFPM2-AS1,intron_variant,,ENST00000520433,;ZFPM2-AS1,intron_variant,,ENST00000518932,;ZFPM2-AS1,intron_variant,,ENST00000520594,;ZFPM2-AS1,intron_variant,,ENST00000509144,;ZFPM2-AS1,intron_variant,,ENST00000521622,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;ZFPM2-AS1,intron_variant,,ENST00000520078,;	A	ENST00000407775	Transcript	synonymous_variant	2737/4700	2487/3456	829/1151	P	ccC/ccA		1		1	ZFPM2	HGNC	HGNC:16700	protein_coding	YES	CCDS47908.1	ENSP00000384179	Q8WW38		UPI000057A0B4	NM_012082.3			8/8		hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	105802569	105802569	C	A	1	0	0	0	0	0	0	0	1	18236	581	21	2		2	ZFPM2	8	105802569	Silent	SNP	C	C3N-00547_TP	2399279	105802569	39336067	322	15783											
CSMD3	0	.	GRCh38	chr8	112301905	112301905	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatagctgttgagccataTgaagtttgagttccaatctt	12	14	9	6	0	1	4	0	3	1	1	2	4	2	4	2	0	2	4	2	0	5	6	rs764146300		C3N-00547_TP	C3N-00547_NB	T	T																c.8328A>T	p.=	p.S2776S	ENST00000297405	53/71	385	256	129	344	344	0	strelka-varscan-mutect	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000455883,NM_052900.2;CSMD3,synonymous_variant,p.=,ENST00000339701,;	A	ENST00000297405	Transcript	synonymous_variant	8573/13212	8328/11124	2776/3707	S	tcA/tcT	rs764146300	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			53/71		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	1			1										PASS		rs764146300	.												A	2	1	50	112301905	112301905	T	A	1	0	0	0	0	0	0	0	1	3747	1451	51	4		4	CSMD3	8	112301905	Silent	SNP	T	C3N-00547_TP	6499336	112301905	32836731	323	15784											
CSMD3	0	.	GRCh38	chr8	112406674	112406674	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattgccaattcttcttcCgaatcttggttcaggcacag	8	15	7	11	1	5	0	2	0	3	0	6	1	6	0	2	2	1	2	2	2	2	7	rs149542393		C3N-00547_TP	C3N-00547_NB	C	C																c.5659G>C	p.Gly1887Arg	p.G1887R	ENST00000297405	35/71	297	155	142	258	258	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Gly1887Arg,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Gly1847Arg,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Gly1783Arg,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Gly1157Arg,ENST00000339701,;	G	ENST00000297405	Transcript	missense_variant	5904/13212	5659/11124	1887/3707	G/R	Gga/Cga	rs149542393	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		35/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		rs149542393	.												G	3	3	50	112406674	112406674	C	G	1	0	0	0	0	1	0	0	0	3747	661	23	4		4	CSMD3	8	112406674	Missense_Mutation	SNP	C	C3N-00547_TP	104769	112406674	32731962	324	15785											
CSMD3	0	.	GRCh38	chr8	112975972	112975972	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttggggtccagacctgaatTtctgagactcgtaacttgca	9	12	11	9	1	1	3	0	2	1	2	3	4	2	3	2	2	2	3	2	2	2	4	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.1207A>C	p.Asn403His	p.N403H	ENST00000297405	7/71	382	342	40	345	345	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Asn403His,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Asn363His,ENST00000343508,NM_198124.1;CSMD3,intron_variant,,ENST00000455883,NM_052900.2;	G	ENST00000297405	Transcript	missense_variant	1452/13212	1207/11124	403/3707	N/H	Aat/Cat		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	tolerated_low_confidence(0.55)		7/71																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	112975972	112975972	T	G	1	0	0	0	0	1	0	0	0	3747	1841	64	5		5	CSMD3	8	112975972	Missense_Mutation	SNP	T	C3N-00547_TP	569298	112975972	32162664	325	15786											
SNTB1	0	.	GRCh38	chr8	120538913	120538913	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttgtaatcttagctgaCaggaaggaatgaatgatgaa	15	11	11	4	0	2	4	0	4	2	0	2	6	2	6	0	2	1	2	0	2	6	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1581G>T	p.=	p.L527L	ENST00000395601	8/8	152	143	9	128	128	0	strelka-varscan-mutect	SNTB1,synonymous_variant,p.=,ENST00000395601,NM_021021.3;SNTB1,synonymous_variant,p.=,ENST00000517992,;MTBP,intron_variant,,ENST00000519841,;MTBP,intron_variant,,ENST00000519556,;	A	ENST00000395601	Transcript	synonymous_variant	1996/5164	1581/1617	527/538	L	ctG/ctT		1		-1	SNTB1	HGNC	HGNC:11168	protein_coding	YES	CCDS6334.1	ENSP00000378965	Q13884		UPI0000135B20	NM_021021.3			8/8		hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF11																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	50	120538913	120538913	C	A	1	0	0	0	0	0	0	0	1	15192	465	17	2		2	SNTB1	8	120538913	Silent	SNP	C	C3N-00547_TP	7562941	120538913	24599723	326	15787											
ZHX1	0	.	GRCh38	chr8	123253679	123253679	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctctaggccgcccacgCggtcttcctcttccccgtcc	2	11	7	21	4	3	0	0	0	3	0	7	0	7	0	7	2	0	0	7	2	1	4	rs149228659		C3N-00547_TP	C3N-00547_NB	C	C																c.2268G>T	p.=	p.P756P	ENST00000297857	3/4	215	185	30	177	177	0	strelka-varscan-mutect	ZHX1,synonymous_variant,p.=,ENST00000297857,NM_001017926.2;ZHX1,synonymous_variant,p.=,ENST00000395571,NM_007222.4;ZHX1,synonymous_variant,p.=,ENST00000522655,;ZHX1-C8orf76,intron_variant,,ENST00000357082,NM_001204180.1;ZHX1-C8orf76,intron_variant,,ENST00000622816,;ZHX1,upstream_gene_variant,,ENST00000602651,;ZHX1,intron_variant,,ENST00000517516,;ZHX1,downstream_gene_variant,,ENST00000522595,;ZHX1,downstream_gene_variant,,ENST00000524267,;ZHX1,downstream_gene_variant,,ENST00000480132,;	A	ENST00000297857	Transcript	synonymous_variant	2973/5200	2268/2622	756/873	P	ccG/ccT	rs149228659	1		-1	ZHX1	HGNC	HGNC:12871	protein_coding	YES	CCDS6342.1	ENSP00000297857	Q9UKY1	A0A024R9F1	UPI000007404F	NM_001017926.2			3/4		Low_complexity_(Seg):seg,hmmpanther:PTHR15467,hmmpanther:PTHR15467:SF4																	LOW		SNV	5			1										PASS		rs149228659	.												A	2	1	50	123253679	123253679	C	A	1	0	0	0	0	0	0	0	1	18254	755	27	1		1	ZHX1	8	123253679	Silent	SNP	C	C3N-00547_TP	2714766	123253679	21884957	327	15788											
FER1L6	0	.	GRCh38	chr8	124061895	124061895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccgccactgagcatctGcgtggtggactggagagctt	7	8	14	12	2	1	2	0	1	1	1	1	4	1	3	2	3	3	3	2	3	0	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.3191G>T	p.Cys1064Phe	p.C1064F	ENST00000522917	25/41	279	159	120	213	213	0	strelka-varscan-mutect	FER1L6,missense_variant,p.Cys1064Phe,ENST00000522917,NM_001039112.2;FER1L6-AS2,intron_variant,,ENST00000520031,;	T	ENST00000522917	Transcript	missense_variant	3397/6051	3191/5574	1064/1857	C/F	tGc/tTc		1		1	FER1L6	HGNC	HGNC:28065	protein_coding	YES	CCDS43767.1	ENSP00000428280	Q2WGJ9		UPI0000E9B4AA	NM_001039112.2	tolerated(0.08)		25/41		hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546,Pfam_domain:PF00168,Gene3D:2.60.40.150,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	124061895	124061895	G	T	1	0	0	0	0	1	0	0	0	5678	1319	46	2		2	FER1L6	8	124061895	Missense_Mutation	SNP	G	C3N-00547_TP	808216	124061895	21076741	328	15789											
TRMT12	0	.	GRCh38	chr8	124451293	124451293	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagggtcggggagtcaagtgGtcagccgagttggaggctga	8	7	20	6	2	2	1	2	1	0	0	3	5	2	3	1	6	1	2	1	6	1	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.366G>A	p.Trp122Ter	p.W122*	ENST00000328599	1/1	309	275	34	197	197	0	strelka-varscan-mutect	TRMT12,stop_gained,p.Trp122Ter,ENST00000328599,NM_017956.3;TRMT12,intron_variant,,ENST00000521443,;TRMT12,intron_variant,,ENST00000522518,;	A	ENST00000328599	Transcript	stop_gained	474/2207	366/1347	122/448	W/*	tgG/tgA		1		1	TRMT12	HGNC	HGNC:26091	protein_coding	YES	CCDS6349.1	ENSP00000329858	Q53H54		UPI0000140A61	NM_017956.3			1/1		hmmpanther:PTHR23245:SF25,hmmpanther:PTHR23245																	HIGH	1	SNV				1										PASS		.	.												A	4	1	50	124451293	124451293	G	A	1	0	0	0	0	0	1	0	0	17066	1270	44	3		3	TRMT12	8	124451293	Nonsense_Mutation	SNP	G	C3N-00547_TP	389398	124451293	20687343	329	15790											
HHLA1	0	.	GRCh38	chr8	132095584	132095584	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggaatttggcggggtctActgtcttcaggttagaaact	8	13	14	6	1	3	1	1	0	2	1	3	2	3	2	0	6	2	1	0	6	4	4	rs759144068		C3N-00547_TP	C3N-00547_NB	A	A																c.491T>C	p.Val164Ala	p.V164A	ENST00000434736	8/17	221	128	93	185	185	0	strelka-varscan-mutect	HHLA1,missense_variant,p.Val128Ala,ENST00000414222,NM_001145095.1;HHLA1,missense_variant,p.Val164Ala,ENST00000434736,;	G	ENST00000434736	Transcript	missense_variant	577/2369	491/1632	164/543	V/A	gTa/gCa	rs759144068	1		-1	HHLA1	HGNC	HGNC:4904	protein_coding	YES		ENSP00000407107		C9JY47	UPI00021CEF49		deleterious(0)		8/17		hmmpanther:PTHR15299,hmmpanther:PTHR15299:SF3																	MODERATE	1	SNV	5			1										PASS		rs759144068	.												G	3	3	50	132095584	132095584	A	G	1	0	0	0	0	1	0	0	0	6980	391	14	5		5	HHLA1	8	132095584	Missense_Mutation	SNP	A	C3N-00547_TP	7644291	132095584	13043052	330	15791											
FAM135B	0	.	GRCh38	chr8	138310849	138310849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttctgctcacctgtctgcCcagcgatggaggcactcagt	6	11	10	14	1	5	0	2	0	3	0	5	2	5	1	2	2	3	2	2	2	0	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.149G>T	p.Gly50Val	p.G50V	ENST00000395297	3/20	168	158	10	192	192	0	strelka-mutect	FAM135B,missense_variant,p.Gly50Val,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Gly50Val,ENST00000520380,;FAM135B,missense_variant,p.Gly50Val,ENST00000160713,;FAM135B,non_coding_transcript_exon_variant,,ENST00000517849,;FAM135B,missense_variant,p.Gly50Val,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;	A	ENST00000395297	Transcript	missense_variant	320/6962	149/4221	50/1406	G/V	gGg/gTg		1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	deleterious(0.01)		3/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	138310849	138310849	C	A	1	0	0	0	0	1	0	0	0	5299	623	22	2		2	FAM135B	8	138310849	Missense_Mutation	SNP	C	C3N-00547_TP	6215265	138310849	6827787	331	15792											
ARC	0	.	GRCh38	chr8	142613777	142613777	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggggctgacggtgtagtcGtagccgtctgcctcgtggca	5	10	16	10	4	1	1	0	1	1	0	3	1	1	1	2	4	2	4	2	4	3	3	rs769666928		C3N-00547_TP	C3N-00547_NB	G	G																c.495C>A	p.Tyr165Ter	p.Y165*	ENST00000356613	1/3	232	213	19	130	130	0	strelka-varscan-mutect	ARC,stop_gained,p.Tyr165Ter,ENST00000356613,NM_015193.4;ARC,upstream_gene_variant,,ENST00000581404,;	T	ENST00000356613	Transcript	stop_gained	696/2948	495/1191	165/396	Y/*	taC/taA	rs769666928	1		-1	ARC	HGNC	HGNC:648	protein_coding	YES	CCDS34950.1	ENSP00000349022	Q7LC44		UPI0000163B0F	NM_015193.4			1/3		Prints_domain:PR02027,hmmpanther:PTHR15962																	HIGH	1	SNV	1			1										PASS		rs769666928	.												T	4	4	50	142613777	142613777	G	T	1	0	0	0	0	0	1	0	0	963	1140	40	1		1	ARC	8	142613777	Nonsense_Mutation	SNP	G	C3N-00547_TP	4302928	142613777	2524859	332	15793											
ZNF517	0	.	GRCh38	chr8	144803646	144803646	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtatgtggttgcaggaggcGgttgtgttcgaggatgtggc	6	12	19	4	2	0	0	0	0	0	0	1	3	0	2	0	6	1	5	0	6	1	4	rs769619930		C3N-00547_TP	C3N-00547_NB	G	G																c.39G>A	p.=	p.A13A	ENST00000359971	3/5	146	135	11	148	148	0	strelka-varscan-mutect	ZNF517,synonymous_variant,p.=,ENST00000359971,NM_001317936.1,NM_213605.2;ZNF517,synonymous_variant,p.=,ENST00000531720,;ZNF517,synonymous_variant,p.=,ENST00000525105,;ZNF517,synonymous_variant,p.=,ENST00000528012,;ZNF517,intron_variant,,ENST00000529429,;ZNF517,intron_variant,,ENST00000526178,;ZNF517,synonymous_variant,p.=,ENST00000533965,;ZNF517,non_coding_transcript_exon_variant,,ENST00000530879,;	A	ENST00000359971	Transcript	synonymous_variant	146/2335	39/1479	13/492	A	gcG/gcA	rs769619930	1		1	ZNF517	HGNC	HGNC:27984	protein_coding	YES	CCDS6434.1	ENSP00000353058	Q6ZMY9		UPI000045770F	NM_001317936.1,NM_213605.2			3/5		Superfamily_domains:0044637,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF20																	LOW	1	SNV	4			1										PASS		rs769619930	.												A	2	1	50	144803646	144803646	G	A	1	0	0	0	0	0	0	0	1	18533	1130	39	1		1	ZNF517	8	144803646	Silent	SNP	G	C3N-00547_TP	2189869	144803646	334990	333	15794											
DMRT3	0	.	GRCh38	chr9	990504	990504	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaacctgagagtctagcGttgccctccaatgggcacat	10	8	11	12	1	1	2	0	1	1	2	2	3	2	2	3	1	3	3	3	1	3	2			C3N-00547_TP	C3N-00547_NB	G	G																c.918G>A	p.=	p.A306A	ENST00000190165	2/2	221	200	21	254	254	0	strelka-varscan-mutect	DMRT3,synonymous_variant,p.=,ENST00000190165,NM_021240.3;DMRT3,downstream_gene_variant,,ENST00000417254,;	A	ENST00000190165	Transcript	synonymous_variant	956/2183	918/1419	306/472	A	gcG/gcA	COSM1111589	1		1	DMRT3	HGNC	HGNC:13909	protein_coding	YES	CCDS6443.1	ENSP00000190165	Q9NQL9		UPI0000073634	NM_021240.3			2/2		hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF73											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	50	990504	990504	G	A	1	0	0	0	0	0	0	0	1	4394	1132	40	1		1	DMRT3	9	990504	Silent	SNP	G	C3N-00547_TP		990504	137404213	334	15795											
PTPRD	0	.	GRCh38	chr9	8341695	8341695	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacatccaataccatacctTaaattcgagctccattcctg	12	12	3	14	1	1	0	1	0	0	0	5	1	4	0	5	0	3	1	5	0	5	5	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.4945A>T	p.Lys1649Ter	p.K1649*	ENST00000381196	37/43	86	71	15	83	83	0	strelka-varscan-mutect	PTPRD,stop_gained,p.Lys1649Ter,ENST00000381196,NM_002839.3;PTPRD,stop_gained,p.Lys1649Ter,ENST00000356435,;PTPRD,stop_gained,p.Lys1243Ter,ENST00000355233,NM_130392.3;PTPRD,stop_gained,p.Lys1242Ter,ENST00000397617,;PTPRD,stop_gained,p.Lys1239Ter,ENST00000397611,NM_001040712.2;PTPRD,stop_gained,p.Lys1233Ter,ENST00000537002,NM_130393.3;PTPRD,stop_gained,p.Lys1649Ter,ENST00000540109,;PTPRD,stop_gained,p.Lys1242Ter,ENST00000486161,NM_130391.3;PTPRD,stop_gained,p.Lys1242Ter,ENST00000397606,NM_001171025.1;	A	ENST00000381196	Transcript	stop_gained,splice_region_variant	5489/9911	4945/5739	1649/1912	K/*	Aag/Tag		1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3			37/43		Gene3D:3.90.190.10,PROSITE_profiles:PS50055,SMART_domains:SM00194,Superfamily_domains:SSF52799,Superfamily_domains:SSF52799																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	50	8341695	8341695	T	A	1	0	0	0	0	0	1	0	0	12953	1768	61	4		4	PTPRD	9	8341695	Nonsense_Mutation	SNP	T	C3N-00547_TP	7351191	8341695	130053022	335	15796											
PTPRD	0	.	GRCh38	chr9	8518010	8518010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagttgttgacatgttGagtgggatccattgtataat	10	15	10	6	0	0	2	0	2	0	0	2	3	2	3	2	1	0	4	2	1	2	6	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1381C>A	p.Gln461Lys	p.Q461K	ENST00000381196	18/43	264	183	81	277	277	0	strelka-varscan-mutect	PTPRD,missense_variant,p.Gln461Lys,ENST00000381196,NM_002839.3;PTPRD,missense_variant,p.Gln461Lys,ENST00000356435,;PTPRD,missense_variant,p.Gln461Lys,ENST00000355233,NM_130392.3;PTPRD,missense_variant,p.Gln451Lys,ENST00000397617,;PTPRD,missense_variant,p.Gln458Lys,ENST00000397611,NM_001040712.2;PTPRD,missense_variant,p.Gln455Lys,ENST00000537002,NM_130393.3;PTPRD,missense_variant,p.Gln461Lys,ENST00000540109,;PTPRD,missense_variant,p.Gln461Lys,ENST00000486161,NM_130391.3;PTPRD,missense_variant,p.Gln451Lys,ENST00000397606,NM_001171025.1;	T	ENST00000381196	Transcript	missense_variant	1925/9911	1381/5739	461/1912	Q/K	Caa/Aaa		1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3	tolerated(0.77)		18/43		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF313,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	8518010	8518010	G	T	1	0	0	0	0	1	0	0	0	12953	1299	45	2		2	PTPRD	9	8518010	Missense_Mutation	SNP	G	C3N-00547_TP	176315	8518010	129876707	336	15797											
PTPRD	0	.	GRCh38	chr9	8633395	8633395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acattcataaatggcctcatCcctcggagtccgtaagggtt	10	11	9	11	2	2	0	2	0	0	0	5	1	4	1	3	3	0	2	3	3	3	4			C3N-00547_TP	C3N-00547_NB	C	C																c.274G>A	p.Asp92Asn	p.D92N	ENST00000381196	11/43	130	94	36	194	194	0	strelka-varscan-mutect	PTPRD,missense_variant,p.Asp92Asn,ENST00000381196,NM_002839.3;PTPRD,missense_variant,p.Asp92Asn,ENST00000356435,;PTPRD,missense_variant,p.Asp92Asn,ENST00000355233,NM_130392.3;PTPRD,missense_variant,p.Asp92Asn,ENST00000397617,;PTPRD,missense_variant,p.Asp92Asn,ENST00000397611,NM_001040712.2;PTPRD,missense_variant,p.Asp92Asn,ENST00000537002,NM_130393.3;PTPRD,missense_variant,p.Asp92Asn,ENST00000540109,;PTPRD,missense_variant,p.Asp92Asn,ENST00000486161,NM_130391.3;PTPRD,missense_variant,p.Asp92Asn,ENST00000397606,NM_001171025.1;PTPRD,missense_variant,p.Asp92Asn,ENST00000463477,;PTPRD,missense_variant,p.Asp92Asn,ENST00000481079,;PTPRD,non_coding_transcript_exon_variant,,ENST00000488774,;	T	ENST00000381196	Transcript	missense_variant	818/9911	274/5739	92/1912	D/N	Gat/Aat	COSM3780139,COSM3780140,COSM3780141,COSM3780142,COSM3780143,COSM3780144	1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3	deleterious(0)		11/43		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF313,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1,1,1,1,1						MODERATE	1	SNV	5		1,1,1,1,1,1	1										PASS		.	.												T	3	4	50	8633395	8633395	C	T	1	0	0	0	0	1	0	0	0	12953	855	30	3		3	PTPRD	9	8633395	Missense_Mutation	SNP	C	C3N-00547_TP	115385	8633395	129761322	337	15798											
GALT	0	.	GRCh38	chr9	34647895	34647895	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcatgtcggtccctgagatCcgggctgttgttgatgcatg	5	13	13	10	2	1	2	1	2	0	1	4	3	3	2	2	2	1	4	2	2	0	2			C3N-00547_TP	C3N-00547_NB	C	C																c.441C>T	p.=	p.I147I	ENST00000378842	5/11	458	372	86	542	542	0	strelka-varscan-mutect	GALT,synonymous_variant,p.=,ENST00000378842,NM_000155.3;GALT,synonymous_variant,p.=,ENST00000450095,NM_001258332.1;RP11-195F19.29,intron_variant,,ENST00000556278,;IL11RA,upstream_gene_variant,,ENST00000555003,;IL11RA,upstream_gene_variant,,ENST00000441545,NM_001142784.2;IL11RA,upstream_gene_variant,,ENST00000553620,;GALT,non_coding_transcript_exon_variant,,ENST00000557541,;GALT,upstream_gene_variant,,ENST00000488412,;GALT,3_prime_UTR_variant,,ENST00000554550,;GALT,3_prime_UTR_variant,,ENST00000554085,;GALT,3_prime_UTR_variant,,ENST00000473506,;GALT,3_prime_UTR_variant,,ENST00000556244,;GALT,3_prime_UTR_variant,,ENST00000554897,;GALT,non_coding_transcript_exon_variant,,ENST00000555020,;GALT,non_coding_transcript_exon_variant,,ENST00000557706,;GALT,non_coding_transcript_exon_variant,,ENST00000554638,;GALT,non_coding_transcript_exon_variant,,ENST00000487381,;GALT,non_coding_transcript_exon_variant,,ENST00000485531,;GALT,non_coding_transcript_exon_variant,,ENST00000555086,;GALT,non_coding_transcript_exon_variant,,ENST00000472111,;GALT,non_coding_transcript_exon_variant,,ENST00000554944,;GALT,non_coding_transcript_exon_variant,,ENST00000473529,;GALT,non_coding_transcript_exon_variant,,ENST00000465543,;GALT,non_coding_transcript_exon_variant,,ENST00000556494,;GALT,non_coding_transcript_exon_variant,,ENST00000554139,;GALT,intron_variant,,ENST00000489643,;GALT,intron_variant,,ENST00000555214,;IL11RA,upstream_gene_variant,,ENST00000555247,;GALT,upstream_gene_variant,,ENST00000555754,;GALT,downstream_gene_variant,,ENST00000605275,;GALT,downstream_gene_variant,,ENST00000556403,;GALT,downstream_gene_variant,,ENST00000554330,;GALT,downstream_gene_variant,,ENST00000556157,;GALT,downstream_gene_variant,,ENST00000468099,;	T	ENST00000378842	Transcript	synonymous_variant	483/1768	441/1140	147/379	I	atC/atT	COSM3657057	1		1	GALT	HGNC	HGNC:4135	protein_coding	YES	CCDS6565.1	ENSP00000368119	P07902	A0A0S2Z3Y7	UPI000012B073	NM_000155.3			5/11		Gene3D:3.30.428.10,Pfam_domain:PF01087,PIRSF_domain:PIRSF000808,hmmpanther:PTHR11943,hmmpanther:PTHR11943:SF1,Superfamily_domains:SSF54197,TIGRFAM_domain:TIGR00209											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	50	34647895	34647895	C	T	1	0	0	0	0	0	0	0	1	6098	845	30	3		3	GALT	9	34647895	Silent	SNP	C	C3N-00547_TP	26014500	34647895	103746822	338	15799											
GLIPR2	0	.	GRCh38	chr9	36150883	36150883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccacacaggaaaggaggtgGctgatagatggtacagtgaa	14	7	14	6	0	0	3	0	2	0	1	1	5	1	5	1	5	1	2	1	5	4	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.238G>T	p.Ala80Ser	p.A80S	ENST00000377960	4/5	86	73	13	96	96	0	strelka-varscan-mutect	GLIPR2,missense_variant,p.Ala80Ser,ENST00000377960,NM_001287013.1,NM_022343.3,NM_001287011.1;GLIPR2,intron_variant,,ENST00000396613,NM_001287012.1;GLIPR2,intron_variant,,ENST00000619700,NM_001287014.1;GLIPR2,intron_variant,,ENST00000377959,NM_001287010.1;GLIPR2,non_coding_transcript_exon_variant,,ENST00000474050,;	T	ENST00000377960	Transcript	missense_variant	272/1890	238/465	80/154	A/S	Gct/Tct		1		1	GLIPR2	HGNC	HGNC:18007	protein_coding	YES	CCDS6598.1	ENSP00000367196	Q9H4G4		UPI000006DF50	NM_001287013.1,NM_022343.3,NM_001287011.1	tolerated(0.13)		4/5		Gene3D:3.40.33.10,Pfam_domain:PF00188,Prints_domain:PR00837,hmmpanther:PTHR10334,SMART_domains:SM00198,Superfamily_domains:SSF55797																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	36150883	36150883	G	T	1	0	0	0	0	1	0	0	0	6322	1203	42	2		2	GLIPR2	9	36150883	Missense_Mutation	SNP	G	C3N-00547_TP	1502988	36150883	102243834	339	15800											
CLTA	0	.	GRCh38	chr9	36191188	36191188	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagagagcgagattgcGggcatcgagaacgacgaggc	13	3	16	9	5	0	3	0	0	0	3	1	8	0	3	0	2	4	2	0	2	2	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.132G>T	p.=	p.A44A	ENST00000242285	1/7	149	117	32	191	191	0	strelka-varscan-mutect	CLTA,synonymous_variant,p.=,ENST00000433436,;CLTA,synonymous_variant,p.=,ENST00000538225,;CLTA,synonymous_variant,p.=,ENST00000242285,NM_007096.3;CLTA,synonymous_variant,p.=,ENST00000470744,NM_001184760.1;CLTA,synonymous_variant,p.=,ENST00000396603,NM_001076677.2;CLTA,synonymous_variant,p.=,ENST00000345519,NM_001833.3,NM_001184761.1;CLTA,synonymous_variant,p.=,ENST00000540080,NM_001184762.1;CLTA,synonymous_variant,p.=,ENST00000466396,;CLTA,synonymous_variant,p.=,ENST00000464497,;CLTA,synonymous_variant,p.=,ENST00000493185,;	T	ENST00000242285	Transcript	synonymous_variant	252/1152	132/747	44/248	A	gcG/gcT		1		1	CLTA	HGNC	HGNC:2090	protein_coding	YES	CCDS6601.1	ENSP00000242285	P09496		UPI0000127A9E	NM_007096.3			1/7		Pfam_domain:PF01086,hmmpanther:PTHR10639,hmmpanther:PTHR10639:SF1																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	36191188	36191188	G	T	1	0	0	0	0	0	0	0	1	3336	1103	39	1		1	CLTA	9	36191188	Silent	SNP	G	C3N-00547_TP	40305	36191188	102203529	340	15801											
DCAF10	0	.	GRCh38	chr9	37801281	37801281	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgggccgcgggctgttcgtgGacccggcgcgggacaatttt	4	9	17	11	6	0	0	0	0	0	0	1	2	0	2	2	5	0	2	2	5	1	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.415G>C	p.Asp139His	p.D139H	ENST00000377724	1/7	114	90	24	164	164	0	strelka-varscan-mutect	DCAF10,missense_variant,p.Asp139His,ENST00000377724,NM_024345.4;DCAF10,intron_variant,,ENST00000242323,NM_001286810.1;EXOSC3,intron_variant,,ENST00000482614,;EXOSC3,upstream_gene_variant,,ENST00000489414,;RP11-613M10.9,intron_variant,,ENST00000540557,;	C	ENST00000377724	Transcript	missense_variant	780/3862	415/1680	139/559	D/H	Gac/Cac		1		1	DCAF10	HGNC	HGNC:23686	protein_coding	YES	CCDS6613.2	ENSP00000366953	Q5QP82		UPI000046FD58	NM_024345.4	deleterious(0.04)		1/7		hmmpanther:PTHR14588:SF2,hmmpanther:PTHR14588																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	37801281	37801281	G	C	1	0	0	0	0	1	0	0	0	4062	1174	41	4		4	DCAF10	9	37801281	Missense_Mutation	SNP	G	C3N-00547_TP	1610093	37801281	100593436	341	15802											
FOXD4L6	0	.	GRCh38	chr9	41127475	41127475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcccaaggctgaggacCaagtgagggctgcagcacgg	9	5	14	13	1	0	2	0	2	0	0	2	3	2	3	3	4	2	4	3	4	2	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.909G>T	p.Leu303Phe	p.L303F	ENST00000622588	1/1	75	59	16	110	109	1	strelka-varscan-mutect	FOXD4L6,missense_variant,p.Leu303Phe,ENST00000622588,NM_001085476.1;CBWD7,downstream_gene_variant,,ENST00000613716,;CBWD7,downstream_gene_variant,,ENST00000377391,NM_001085457.1;CBWD7,downstream_gene_variant,,ENST00000456520,;CBWD7,downstream_gene_variant,,ENST00000613125,;CBWD7,downstream_gene_variant,,ENST00000617722,;CBWD7,downstream_gene_variant,,ENST00000610358,;CBWD7,downstream_gene_variant,,ENST00000622791,;CBWD7,downstream_gene_variant,,ENST00000457288,;CBWD7,downstream_gene_variant,,ENST00000617917,;CBWD7,downstream_gene_variant,,ENST00000611553,;CBWD7,downstream_gene_variant,,ENST00000486387,;CBWD7,downstream_gene_variant,,ENST00000494538,;CBWD7,downstream_gene_variant,,ENST00000382436,;FRG1HP,intron_variant,,ENST00000617940,;	A	ENST00000622588	Transcript	missense_variant	989/2034	909/1254	303/417	L/F	ttG/ttT		1		-1	FOXD4L6	HGNC	HGNC:31986	protein_coding	YES	CCDS43826.1	ENSP00000484875	Q3SYB3		UPI0000519166	NM_001085476.1	tolerated_low_confidence(0.16)		1/1		hmmpanther:PTHR11829:SF149,hmmpanther:PTHR11829																	MODERATE		SNV				1										PASS		.	.												A	3	1	50	41127475	41127475	C	A	1	0	0	0	0	1	0	0	0	5864	593	21	2		2	FOXD4L6	9	41127475	Missense_Mutation	SNP	C	C3N-00547_TP	3326194	41127475	97267242	342	15803											
CNTNAP3B	0	.	GRCh38	chr9	41953244	41953244	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgctgctcgcagcgctcCgccaggttcaccgcggcccg	4	5	13	19	7	1	0	1	0	0	0	3	0	2	0	5	2	3	5	5	2	0	1	rs531112058		C3N-00547_TP	C3N-00547_NB	C	C																c.2019G>T	p.=	p.A673A	ENST00000377561	13/24	68	50	18	156	156	0	strelka-varscan-mutect	CNTNAP3B,synonymous_variant,p.=,ENST00000612828,;CNTNAP3B,synonymous_variant,p.=,ENST00000377561,NM_001201380.2;CNTNAP3B,synonymous_variant,p.=,ENST00000341990,;CNTNAP3B,synonymous_variant,p.=,ENST00000617422,;CNTNAP3B,upstream_gene_variant,,ENST00000489789,;CNTNAP3B,synonymous_variant,p.=,ENST00000619138,;CNTNAP3B,synonymous_variant,p.=,ENST00000479351,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000618777,;	A	ENST00000377561	Transcript	synonymous_variant	2412/5379	2019/3867	673/1288	A	gcG/gcT	rs531112058	1		-1	CNTNAP3B	HGNC	HGNC:32035	protein_coding	YES	CCDS75836.1	ENSP00000478671		A0A087WUH3	UPI00043788D3	NM_001201380.2			13/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605																	LOW	1	SNV	1			1										PASS		rs531112058	.												A	2	1	50	41953244	41953244	C	A	1	0	0	0	0	0	0	0	1	3430	639	23	1		1	CNTNAP3B	9	41953244	Silent	SNP	C	C3N-00547_TP	825769	41953244	96441473	343	15804											
SPATA31A6	0	.	GRCh38	chr9	42187773	42187773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcttcccacggaaggttctgGgggtgacttctgaggagtcg	6	10	16	9	2	2	2	0	2	2	0	4	4	3	4	1	5	0	2	1	5	1	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2071G>A	p.Gly691Arg	p.G691R	ENST00000332857	4/4	127	93	34	162	162	0	strelka-varscan-mutect	SPATA31A6,missense_variant,p.Gly691Arg,ENST00000332857,NM_001145196.1;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	A	ENST00000332857	Transcript	missense_variant	2100/4209	2071/4032	691/1343	G/R	Ggg/Agg		1		1	SPATA31A6	HGNC	HGNC:32006	protein_coding	YES	CCDS75837.1	ENSP00000329825	Q5VVP1		UPI0000197F6E	NM_001145196.1	tolerated(0.3)		4/4		hmmpanther:PTHR21859:SF18,hmmpanther:PTHR21859,Pfam_domain:PF14650																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	42187773	42187773	G	A	1	0	0	0	0	1	0	0	0	15345	1232	43	3		3	SPATA31A6	9	42187773	Missense_Mutation	SNP	G	C3N-00547_TP	234529	42187773	96206944	344	15805											
SPATA31A6	0	.	GRCh38	chr9	42187920	42187920	+	Missense_Mutation	SNP	G	G	T																															acttgggccagaccaacgagGgcttgatccccgtgcgtgtg																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2218G>T	p.Gly740Cys	p.G740C	ENST00000332857	4/4	34	26	8	51	51	0	varscan-mutect	SPATA31A6,missense_variant,p.Gly740Cys,ENST00000332857,NM_001145196.1;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	T	ENST00000332857	Transcript	missense_variant	2247/4209	2218/4032	740/1343	G/C	Ggc/Tgc		1		1	SPATA31A6	HGNC	HGNC:32006	protein_coding	YES	CCDS75837.1	ENSP00000329825	Q5VVP1		UPI0000197F6E	NM_001145196.1	deleterious(0.01)		4/4		hmmpanther:PTHR21859:SF18,hmmpanther:PTHR21859,Pfam_domain:PF14650																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	42187920	42187920	G	T	1	0	0	0	0	1	0	0	0	15345	1232	43	2		2	SPATA31A6	9	42187920	Missense_Mutation	SNP	G	C3N-00547_TP	147	42187920	96206797	345	15806	336	2									
SPATA31A6	0	.	GRCh38	chr9	42187921	42187921	+	Missense_Mutation	SNP	G	G	T																															cttgggccagaccaacgaggGcttgatccccgtgcgtgtgc																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2219G>T	p.Gly740Val	p.G740V	ENST00000332857	4/4	34	26	8	51	51	0	varscan-mutect	SPATA31A6,missense_variant,p.Gly740Val,ENST00000332857,NM_001145196.1;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	T	ENST00000332857	Transcript	missense_variant	2248/4209	2219/4032	740/1343	G/V	gGc/gTc		1		1	SPATA31A6	HGNC	HGNC:32006	protein_coding	YES	CCDS75837.1	ENSP00000329825	Q5VVP1		UPI0000197F6E	NM_001145196.1	deleterious(0)		4/4		hmmpanther:PTHR21859:SF18,hmmpanther:PTHR21859,Pfam_domain:PF14650																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	42187921	42187921	G	T	1	0	0	0	0	1	0	0	0	15345	1203	42	2		2	SPATA31A6	9	42187921	Missense_Mutation	SNP	G	C3N-00547_TP	1	42187921	96206796	346	15807	336	2									
PRUNE2	0	.	GRCh38	chr9	76711199	76711199	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctattggagaccatctCtggacacctcctgttgatga	8	11	10	12	1	1	3	0	2	1	1	3	5	2	4	4	3	0	2	4	3	1	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1075G>T	p.Glu359Ter	p.E359*	ENST00000376718	8/19	154	120	34	224	224	0	strelka-varscan-mutect	PRUNE2,stop_gained,p.Glu359Ter,ENST00000376718,NM_015225.2;PRUNE2,stop_gained,p.Glu359Ter,ENST00000443509,NM_001308047.1,NM_001308048.1;PRUNE2,5_prime_UTR_variant,,ENST00000428286,;PRUNE2,upstream_gene_variant,,ENST00000426088,;	A	ENST00000376718	Transcript	stop_gained	1199/12584	1075/9267	359/3088	E/*	Gag/Tag		1		-1	PRUNE2	HGNC	HGNC:25209	protein_coding	YES	CCDS47982.1	ENSP00000365908	Q8WUY3		UPI0001612CC0	NM_015225.2			8/19																			HIGH	1	SNV	5			1										PASS		.	.												A	4	1	50	76711199	76711199	C	A	1	0	0	0	0	0	1	0	0	12791	922	32	2		2	PRUNE2	9	76711199	Nonsense_Mutation	SNP	C	C3N-00547_TP	34523278	76711199	61683518	347	15808											
SPATA31D1	0	.	GRCh38	chr9	81992578	81992578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcgcagatggggcctgcCccgcagaatccatgagtctc	8	6	12	15	2	1	3	0	1	1	2	3	3	2	3	5	2	2	2	5	2	1	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2108C>A	p.Pro703His	p.P703H	ENST00000344803	4/4	498	393	105	754	753	1	strelka-varscan-mutect	SPATA31D1,missense_variant,p.Pro703His,ENST00000344803,NM_001001670.2;RP11-15B24.5,intron_variant,,ENST00000637606,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	A	ENST00000344803	Transcript	missense_variant	2155/4833	2108/4731	703/1576	P/H	cCc/cAc		1		1	SPATA31D1	HGNC	HGNC:37283	protein_coding	YES	CCDS47986.1	ENSP00000341988	Q6ZQQ2		UPI00001C10A6	NM_001001670.2	tolerated(0.06)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF12,Pfam_domain:PF14650																	MODERATE	1	SNV	2			1										PASS		rs1460644826	.												A	3	1	50	81992578	81992578	C	A	1	0	0	0	0	1	0	0	0	15347	623	22	2		2	SPATA31D1	9	81992578	Missense_Mutation	SNP	C	C3N-00547_TP	5281379	81992578	56402139	348	15809											
NTRK2	0	.	GRCh38	chr9	84745059	84745059	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcactgataaaaccggtCgggaacatctctcggtgagt	11	9	11	10	4	2	2	1	2	1	0	5	3	2	3	1	3	2	0	1	3	3	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1282C>A	p.=	p.R428R	ENST00000277120	11/19	452	370	82	530	530	0	strelka-varscan-mutect	NTRK2,synonymous_variant,p.=,ENST00000277120,;NTRK2,synonymous_variant,p.=,ENST00000304053,NM_001018065.2;NTRK2,synonymous_variant,p.=,ENST00000376208,NM_001018066.2;NTRK2,synonymous_variant,p.=,ENST00000395882,NM_001291937.1,NM_001007097.2;NTRK2,synonymous_variant,p.=,ENST00000359847,;NTRK2,synonymous_variant,p.=,ENST00000376214,NM_006180.4;NTRK2,synonymous_variant,p.=,ENST00000376213,;NTRK2,synonymous_variant,p.=,ENST00000323115,NM_001018064.2;	A	ENST00000277120	Transcript	synonymous_variant	1765/8633	1282/2517	428/838	R	Cgg/Agg		1		1	NTRK2	HGNC	HGNC:8032	protein_coding	YES	CCDS6671.1	ENSP00000277120	Q16620	A0A024R230	UPI000006FA0D				11/19																			LOW	1	SNV	1			1										PASS		rs958492686	.												A	2	1	50	84745059	84745059	C	A	1	0	0	0	0	0	0	0	1	10773	875	31	1		1	NTRK2	9	84745059	Silent	SNP	C	C3N-00547_TP	2752481	84745059	53649658	349	15810											
ALDOB	0	.	GRCh38	chr9	101427585	101427585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcacagcacgccacttcCcaaagtcaacaccatctttc	12	8	4	17	1	3	0	2	0	1	0	5	0	4	0	3	0	3	2	3	0	2	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.437G>T	p.Gly146Val	p.G146V	ENST00000374855	5/9	460	365	95	565	565	0	strelka-varscan-mutect	ALDOB,missense_variant,p.Gly146Val,ENST00000374855,NM_000035.3;ALDOB,missense_variant,p.Gly146Val,ENST00000616752,;ALDOB,intron_variant,,ENST00000468981,;	A	ENST00000374855	Transcript	missense_variant	562/2451	437/1095	146/364	G/V	gGg/gTg		1		-1	ALDOB	HGNC	HGNC:417	protein_coding	YES	CCDS6756.1	ENSP00000363988	P05062	A0A024R145	UPI000016A4A9	NM_000035.3	deleterious(0)		5/9		hmmpanther:PTHR11627,hmmpanther:PTHR11627:SF2,Gene3D:3.20.20.70,Pfam_domain:PF00274,Superfamily_domains:SSF51569																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	101427585	101427585	C	A	1	0	0	0	0	1	0	0	0	608	623	22	2		2	ALDOB	9	101427585	Missense_Mutation	SNP	C	C3N-00547_TP	16682526	101427585	36967132	350	15811											
GRIN3A	0	.	GRCh38	chr9	101686803	101686803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagggcagaccctctgtcCtcagttcctccacattctgg	7	11	8	15	0	3	1	1	0	2	1	6	1	6	1	4	2	0	2	4	2	1	3	rs544327119		C3N-00547_TP	C3N-00547_NB	C	C																c.1097G>T	p.Arg366Met	p.R366M	ENST00000361820	2/9	154	119	35	186	185	1	strelka-varscan-mutect	GRIN3A,missense_variant,p.Arg366Met,ENST00000361820,NM_133445.2;	A	ENST00000361820	Transcript	missense_variant	1698/7770	1097/3348	366/1115	R/M	aGg/aTg	rs544327119,COSM1208982	1		-1	GRIN3A	HGNC	HGNC:16767	protein_coding	YES	CCDS6758.1	ENSP00000355155	Q8TCU5		UPI0000367661	NM_133445.2	deleterious(0.03)		2/9		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154,Pfam_domain:PF01094,Superfamily_domains:SSF53822											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs544327119	.												A	3	1	50	101686803	101686803	C	A	1	0	0	0	0	1	0	0	0	6665	681	24	2		2	GRIN3A	9	101686803	Missense_Mutation	SNP	C	C3N-00547_TP	259218	101686803	36707914	351	15812											
OR13C2	0	.	GRCh38	chr9	104605082	104605082	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccagtttcatgacagcCagaatttcacaggtgaaatg	13	9	10	9	0	2	3	2	2	0	1	2	3	2	3	2	2	1	1	2	2	2	2	rs78524552		C3N-00547_TP	C3N-00547_NB	C	C																c.546G>A	p.=	p.L182L	ENST00000542196	1/1	146	120	26	187	187	0	strelka-varscan-mutect	OR13C2,synonymous_variant,p.=,ENST00000542196,NM_001004481.1;	T	ENST00000542196	Transcript	synonymous_variant	546/957	546/957	182/318	L	ctG/ctA	rs78524552,COSM3902720	1		-1	OR13C2	HGNC	HGNC:14701	protein_coding	YES	CCDS35092.1	ENSP00000438815	Q8NGS9	A0A126GWR7	UPI0000041B29	NM_001004481.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF279,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245											0,1						LOW	1	SNV			0,1	1										PASS		rs78524552	.												T	2	4	50	104605082	104605082	C	T	1	0	0	0	0	0	0	0	1	11010	581	21	3		3	OR13C2	9	104605082	Silent	SNP	C	C3N-00547_TP	2918279	104605082	33789635	352	15813											
ABCA1	0	.	GRCh38	chr9	104829123	104829123	+	Missense_Mutation	SNP	C	C	A																															aagaggggcattgaccggctCatcacccgcagaaagctgga																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1908G>T	p.Met636Ile	p.M636I	ENST00000374736	15/50	229	214	15	304	303	1	strelka-varscan-mutect	ABCA1,missense_variant,p.Met636Ile,ENST00000374736,NM_005502.3;ABCA1,non_coding_transcript_exon_variant,,ENST00000494467,;	A	ENST00000374736	Transcript	missense_variant	2303/10494	1908/6786	636/2261	M/I	atG/atT		1		-1	ABCA1	HGNC	HGNC:29	protein_coding	YES	CCDS6762.1	ENSP00000363868	O95477		UPI000013E441	NM_005502.3	tolerated(0.12)		15/50		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF34																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	104829123	104829123	C	A	1	0	0	0	0	1	0	0	0	32	826	29	2		2	ABCA1	9	104829123	Missense_Mutation	SNP	C	C3N-00547_TP	224041	104829123	33565594	353	15814	337	2									
ABCA1	0	.	GRCh38	chr9	104829124	104829124	+	Missense_Mutation	SNP	A	A	T																															agaggggcattgaccggctcAtcacccgcagaaagctggag																								novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1907T>A	p.Met636Lys	p.M636K	ENST00000374736	15/50	226	211	15	301	301	0	strelka-varscan-mutect	ABCA1,missense_variant,p.Met636Lys,ENST00000374736,NM_005502.3;ABCA1,non_coding_transcript_exon_variant,,ENST00000494467,;	T	ENST00000374736	Transcript	missense_variant	2302/10494	1907/6786	636/2261	M/K	aTg/aAg		1		-1	ABCA1	HGNC	HGNC:29	protein_coding	YES	CCDS6762.1	ENSP00000363868	O95477		UPI000013E441	NM_005502.3	deleterious(0)		15/50		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF34																	MODERATE	1	SNV	1			1										PASS		rs1268103980	.												T	3	4	50	104829124	104829124	A	T	1	0	0	0	0	1	0	0	0	32	217	8	4		4	ABCA1	9	104829124	Missense_Mutation	SNP	A	C3N-00547_TP	1	104829124	33565593	354	15815	337	2									
ACTL7B	0	.	GRCh38	chr9	108855613	108855613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccagcttgagaggcgcCtccgtgttgagcagctcatg	7	10	12	12	2	2	2	2	2	0	1	3	3	3	2	3	1	3	4	3	1	0	3	rs780240990		C3N-00547_TP	C3N-00547_NB	C	C																c.318G>T	p.Glu106Asp	p.E106D	ENST00000374667	1/1	275	224	51	344	344	0	strelka-varscan-mutect	ACTL7B,missense_variant,p.Glu106Asp,ENST00000374667,NM_006686.3;	A	ENST00000374667	Transcript	missense_variant	1355/2379	318/1248	106/415	E/D	gaG/gaT	rs780240990	1		-1	ACTL7B	HGNC	HGNC:162	protein_coding	YES	CCDS6771.1	ENSP00000363799	Q9Y614	A0A140VKC6	UPI0000125053	NM_006686.3	tolerated(0.06)		1/1		Gene3D:3.30.420.40,Pfam_domain:PF00022,Prints_domain:PR00190,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF59,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV				1										PASS		rs780240990	.												A	3	1	50	108855613	108855613	C	A	1	0	0	0	0	1	0	0	0	245	680	24	2		2	ACTL7B	9	108855613	Missense_Mutation	SNP	C	C3N-00547_TP	4026489	108855613	29539104	355	15816											
EPB41L4B	0	.	GRCh38	chr9	109243641	109243641	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatttggagagtgaggatgCcaccggggctggctgggatg	8	8	18	7	1	0	2	0	1	0	1	0	5	0	4	2	6	1	2	2	6	0	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1386G>T	p.Trp462Cys	p.W462C	ENST00000374566	15/26	176	143	33	138	138	0	strelka-varscan-mutect	EPB41L4B,missense_variant,p.Trp462Cys,ENST00000374566,NM_019114.4;EPB41L4B,missense_variant,p.Trp462Cys,ENST00000374557,NM_018424.3;	A	ENST00000374566	Transcript	missense_variant	1904/5800	1386/2703	462/900	W/C	tgG/tgT		1		-1	EPB41L4B	HGNC	HGNC:19818	protein_coding	YES	CCDS43859.1	ENSP00000363694	Q9H329		UPI0000458994	NM_019114.4	deleterious(0)		15/26		hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	109243641	109243641	C	A	1	0	0	0	0	1	0	0	0	5003	740	26	2		2	EPB41L4B	9	109243641	Missense_Mutation	SNP	C	C3N-00547_TP	388028	109243641	29151076	356	15817											
PAPPA	0	.	GRCh38	chr9	116187852	116187852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagaacccgacggtgacgCgcgagcaggtggacttccag	11	5	14	11	5	0	2	0	1	0	1	1	5	1	3	2	3	2	1	2	3	2	2	rs144678054		C3N-00547_TP	C3N-00547_NB	C	C																c.1114C>A	p.Arg372Ser	p.R372S	ENST00000328252	2/22	331	268	63	325	324	1	strelka-varscan-mutect	PAPPA,missense_variant,p.Arg372Ser,ENST00000328252,NM_002581.3;	A	ENST00000328252	Transcript	missense_variant	1483/10959	1114/4884	372/1627	R/S	Cgc/Agc	rs144678054,COSM3321573	1		1	PAPPA	HGNC	HGNC:8602	protein_coding	YES	CCDS6813.1	ENSP00000330658	Q13219		UPI00001E0589	NM_002581.3	tolerated(0.21)		2/22		Gene3D:3.40.390.10,Superfamily_domains:SSF55486											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs144678054	.												A	3	1	50	116187852	116187852	C	A	1	0	0	0	0	1	0	0	0	11512	768	27	1		1	PAPPA	9	116187852	Missense_Mutation	SNP	C	C3N-00547_TP	6944211	116187852	22206865	357	15818											
TLR4	0	.	GRCh38	chr9	117713366	117713366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcttcaatggtgttattaCcatgagttcaaacttcttgg	10	15	9	7	0	3	1	2	1	1	0	3	2	3	1	1	2	3	3	1	2	4	6			C3N-00547_TP	C3N-00547_NB	C	C																c.1238C>A	p.Thr413Asn	p.T413N	ENST00000355622	3/3	238	197	41	265	264	1	strelka-varscan-mutect	TLR4,missense_variant,p.Thr413Asn,ENST00000355622,NM_138554.4;TLR4,missense_variant,p.Thr373Asn,ENST00000394487,NM_003266.3;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,downstream_gene_variant,,ENST00000490685,;	A	ENST00000355622	Transcript	missense_variant	1339/4844	1238/2520	413/839	T/N	aCc/aAc	COSM752872	1		1	TLR4	HGNC	HGNC:11850	protein_coding	YES	CCDS6818.1	ENSP00000363089	O00206		UPI0000137057	NM_138554.4	tolerated(0.14)		3/3		PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,Gene3D:3.80.10.10,SMART_domains:SM00365,Superfamily_domains:SSF52047											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	50	117713366	117713366	C	A	1	0	0	0	0	1	0	0	0	16399	507	18	2		2	TLR4	9	117713366	Missense_Mutation	SNP	C	C3N-00547_TP	1525514	117713366	20681351	358	15819											
OR1Q1	0	.	GRCh38	chr9	122614768	122614768	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactggaccagtgtgtccCattttgttctcttgggcatt	6	15	10	10	0	1	0	0	0	1	0	3	1	2	1	2	2	1	3	2	2	1	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.31C>A	p.His11Asn	p.H11N	ENST00000297913	1/1	48	38	10	63	63	0	strelka-varscan-mutect	OR1Q1,missense_variant,p.His11Asn,ENST00000297913,NM_012364.1;RP11-64P14.7,intron_variant,,ENST00000431442,;RP11-64P14.7,upstream_gene_variant,,ENST00000419604,;	A	ENST00000297913	Transcript	missense_variant	31/945	31/945	11/314	H/N	Cat/Aat		1		1	OR1Q1	HGNC	HGNC:8223	protein_coding	YES	CCDS35125.1	ENSP00000297913	Q15612		UPI000003CACD	NM_012364.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF92,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs920987819	.												A	3	1	50	122614768	122614768	C	A	1	0	0	0	0	1	0	0	0	11049	594	21	2		2	OR1Q1	9	122614768	Missense_Mutation	SNP	C	C3N-00547_TP	4901402	122614768	15779949	359	15820											
DENND1A	0	.	GRCh38	chr9	123382450	123382450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggttctggggccttcgaGgcagggccagggagtttccg	4	8	17	12	3	1	0	0	0	1	0	3	2	2	1	4	6	0	3	4	6	0	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2012C>A	p.Pro671His	p.P671H	ENST00000373624	22/22	77	58	19	127	127	0	strelka-varscan-mutect	DENND1A,missense_variant,p.Pro671His,ENST00000373624,NM_020946.1;CRB2,downstream_gene_variant,,ENST00000373631,NM_173689.6;DENND1A,non_coding_transcript_exon_variant,,ENST00000473039,;CRB2,downstream_gene_variant,,ENST00000460253,;	T	ENST00000373624	Transcript	missense_variant	2214/5010	2012/3030	671/1009	P/H	cCt/cAt		1		-1	DENND1A	HGNC	HGNC:29324	protein_coding	YES	CCDS35133.1	ENSP00000362727	Q8TEH3		UPI00004589D2	NM_020946.1	deleterious(0.05)		22/22		hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF22																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	50	123382450	123382450	G	T	1	0	0	0	0	1	0	0	0	4230	1000	35	2		2	DENND1A	9	123382450	Missense_Mutation	SNP	G	C3N-00547_TP	767682	123382450	15012267	360	15821											
ZBTB34	0	.	GRCh38	chr9	126879851	126879851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagagaatcccgagaGtcgaaacggagtgaaagaca	16	5	13	7	3	0	5	0	2	0	3	2	9	1	6	1	1	2	1	1	1	4	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.440G>T	p.Ser147Ile	p.S147I	ENST00000373452	1/1	209	152	57	239	239	0	strelka-varscan-mutect	ZBTB34,missense_variant,p.Ser151Ile,ENST00000319119,;ZBTB34,missense_variant,p.Ser147Ile,ENST00000373452,NM_001099270.1;	T	ENST00000373452	Transcript	missense_variant	504/6528	440/1503	147/500	S/I	aGt/aTt		1		1	ZBTB34	HGNC	HGNC:31446	protein_coding	YES	CCDS48023.1	ENSP00000362551	Q8NCN2		UPI00004031FA	NM_001099270.1	deleterious(0.01)		1/1																			MODERATE	1	SNV				1										PASS		.	.												T	3	4	50	126879851	126879851	G	T	1	0	0	0	0	1	0	0	0	18106	1029	36	2		2	ZBTB34	9	126879851	Missense_Mutation	SNP	G	C3N-00547_TP	3497401	126879851	11514866	361	15822											
HMCN2	0	.	GRCh38	chr9	130405000	130405000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagatggccagcctgtgtcgGgcgccgaggggaagttcacc	8	6	16	11	3	1	1	1	0	0	1	2	3	1	2	4	4	1	1	4	4	2	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.12220G>T	p.Gly4074Cys	p.G4074C	ENST00000624552	81/98	99	69	30	104	104	0	strelka-varscan-mutect	HMCN2,missense_variant,p.Gly4074Cys,ENST00000624552,NM_001291815.1;RN7SL665P,downstream_gene_variant,,ENST00000578793,;HMCN2,3_prime_UTR_variant,,ENST00000487727,;HMCN2,non_coding_transcript_exon_variant,,ENST00000480829,;	T	ENST00000624552	Transcript	missense_variant	12220/15610	12220/15180	4074/5059	G/C	Ggc/Tgc		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	deleterious(0.02)		81/98		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	130405000	130405000	G	T	1	0	0	0	0	1	0	0	0	7112	1232	43	2		2	HMCN2	9	130405000	Missense_Mutation	SNP	G	C3N-00547_TP	3525149	130405000	7989717	362	15823											
PRDM12	0	.	GRCh38	chr9	130666647	130666647	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgctgcctgcggaggTgatcatcgctcagagctcca	6	9	13	13	2	2	2	2	1	0	1	4	3	3	3	3	3	4	3	3	3	0	0	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.263T>A	p.Val88Glu	p.V88E	ENST00000253008	2/5	133	103	30	220	220	0	strelka-varscan-mutect	PRDM12,missense_variant,p.Val88Glu,ENST00000253008,NM_021619.2;	A	ENST00000253008	Transcript	missense_variant	323/2476	263/1104	88/367	V/E	gTg/gAg		1		1	PRDM12	HGNC	HGNC:13997	protein_coding	YES	CCDS6934.1	ENSP00000253008	Q9H4Q4		UPI0000132184	NM_021619.2	deleterious(0)		2/5		Gene3D:2.170.270.10,PIRSF_domain:PIRSF037163,PROSITE_profiles:PS50280,SMART_domains:SM00317,Superfamily_domains:SSF82199																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	130666647	130666647	T	A	1	0	0	0	0	1	0	0	0	12584	1696	59	4		4	PRDM12	9	130666647	Missense_Mutation	SNP	T	C3N-00547_TP	261647	130666647	7728070	363	15824											
FCN1	0	.	GRCh38	chr9	134914798	134914798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccaggggctccagggaGaccgcgttctcctgaaaatt	8	10	11	12	2	1	2	0	1	1	1	4	3	3	2	4	3	0	2	4	3	2	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.229C>A	p.Leu77Ile	p.L77I	ENST00000371806	3/9	126	102	24	105	105	0	strelka-varscan-mutect	FCN1,missense_variant,p.Leu77Ile,ENST00000616356,;FCN1,missense_variant,p.Leu77Ile,ENST00000371806,NM_002003.3;	T	ENST00000371806	Transcript	missense_variant	321/1286	229/981	77/326	L/I	Ctc/Atc		1		-1	FCN1	HGNC	HGNC:3623	protein_coding	YES	CCDS6985.1	ENSP00000360871	O00602		UPI000012A5A7	NM_002003.3	tolerated(0.45)		3/9		Low_complexity_(Seg):seg,hmmpanther:PTHR19143:SF165,hmmpanther:PTHR19143,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	134914798	134914798	G	T	1	0	0	0	0	1	0	0	0	5654	942	33	2		2	FCN1	9	134914798	Missense_Mutation	SNP	G	C3N-00547_TP	4248151	134914798	3479919	364	15825											
EHMT1	0	.	GRCh38	chr9	137834854	137834854	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccaagtgccggcactcGagcgcggccctggcccagcg	5	4	13	19	5	0	0	0	0	0	0	2	1	1	0	5	3	3	1	5	3	1	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.3798G>T	p.=	p.S1266S	ENST00000460843	27/27	185	155	30	239	239	0	strelka-varscan-mutect	EHMT1,synonymous_variant,p.=,ENST00000460843,NM_024757.4;EHMT1,synonymous_variant,p.=,ENST00000637161,;MIR602,upstream_gene_variant,,ENST00000384960,;EHMT1,non_coding_transcript_exon_variant,,ENST00000472849,;EHMT1,downstream_gene_variant,,ENST00000637287,;EHMT1,3_prime_UTR_variant,,ENST00000637891,;EHMT1,non_coding_transcript_exon_variant,,ENST00000475564,;EHMT1,non_coding_transcript_exon_variant,,ENST00000494249,;EHMT1,non_coding_transcript_exon_variant,,ENST00000637748,;EHMT1,non_coding_transcript_exon_variant,,ENST00000475704,;EHMT1,intron_variant,,ENST00000462942,;EHMT1,downstream_gene_variant,,ENST00000637261,;	T	ENST00000460843	Transcript	synonymous_variant	3864/5137	3798/3897	1266/1298	S	tcG/tcT		1		1	EHMT1	HGNC	HGNC:24650	protein_coding	YES	CCDS7050.2	ENSP00000417980	Q9H9B1		UPI000194EC2D	NM_024757.4			27/27		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs927268582	.												T	2	4	50	137834854	137834854	G	T	1	0	0	0	0	0	0	0	1	4819	1045	37	1		1	EHMT1	9	137834854	Silent	SNP	G	C3N-00547_TP	2920056	137834854	559863	365	15826											
TUBB8	0	.	GRCh38	chr10	47665	47665	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcagcattcagctggcccgGgaagcgcaggcacgtggtga	8	6	16	11	3	2	1	2	1	0	0	2	2	2	2	1	4	3	4	1	4	1	1			C3N-00547_TP	C3N-00547_NB	G	G																c.727C>G	p.Pro243Ala	p.P243A	ENST00000568584	4/4	236	181	55	227	227	0	strelka-varscan-mutect	TUBB8,missense_variant,p.Pro209Ala,ENST00000564130,;TUBB8,missense_variant,p.Pro243Ala,ENST00000568584,NM_177987.2;TUBB8,missense_variant,p.Pro206Ala,ENST00000568866,;TUBB8,3_prime_UTR_variant,,ENST00000561967,;TUBB8,3_prime_UTR_variant,,ENST00000562809,;TUBB8,3_prime_UTR_variant,,ENST00000567466,;TUBB8,downstream_gene_variant,,ENST00000563456,;FAM166AP7,downstream_gene_variant,,ENST00000416477,;	C	ENST00000568584	Transcript	missense_variant	1078/1790	727/1335	243/444	P/A	Ccg/Gcg	COSM3441492	1		-1	TUBB8	HGNC	HGNC:20773	protein_coding	YES	CCDS7051.1	ENSP00000456206	Q3ZCM7		UPI000007238E	NM_177987.2	deleterious_low_confidence(0)		4/4		Gene3D:3.40.50.1440,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF55,SMART_domains:SM00864,Superfamily_domains:SSF52490											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	50	47665	47665	G	C	1	0	0	0	0	1	0	0	0	17271	1232	43	4		4	TUBB8	10	47665	Missense_Mutation	SNP	G	C3N-00547_TP		47665	133749757	366	15827											
ITIH5	0	.	GRCh38	chr10	7576888	7576888	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccaccagcttccccgCaatgatgatctccgagccgt	7	9	8	17	3	1	2	0	2	1	0	4	3	3	2	7	0	2	2	7	0	1	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1543G>C	p.Ala515Pro	p.A515P	ENST00000397146	10/14	197	139	58	241	241	0	strelka-varscan-mutect	ITIH5,missense_variant,p.Ala515Pro,ENST00000397146,NM_030569.6;ITIH5,missense_variant,p.Ala515Pro,ENST00000397145,NM_001001851.2;ITIH5,missense_variant,p.Ala301Pro,ENST00000613909,NM_032817.5;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;ITIH5,non_coding_transcript_exon_variant,,ENST00000476417,;ITIH5,non_coding_transcript_exon_variant,,ENST00000468389,;ITIH5,downstream_gene_variant,,ENST00000461751,;ITIH5,upstream_gene_variant,,ENST00000492668,;	G	ENST00000397146	Transcript	missense_variant	1622/6721	1543/2829	515/942	A/P	Gcg/Ccg		1		-1	ITIH5	HGNC	HGNC:21449	protein_coding	YES		ENSP00000380333		C9J2H1	UPI000014D02E	NM_030569.6	deleterious(0)		10/14		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF62																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	7576888	7576888	C	G	1	0	0	0	0	1	0	0	0	7813	710	25	4		4	ITIH5	10	7576888	Missense_Mutation	SNP	C	C3N-00547_TP	7529223	7576888	126220534	367	15828											
CUBN	0	.	GRCh38	chr10	16835184	16835184	+	Missense_Mutation	SNP	C	C	A																															gccaaatgccttgtgatagtCtctgttgcaatcttagagga																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.10192G>T	p.Asp3398Tyr	p.D3398Y	ENST00000377833	64/67	246	218	28	259	258	1	strelka-varscan-mutect	CUBN,missense_variant,p.Asp3398Tyr,ENST00000377833,NM_001081.3;	A	ENST00000377833	Transcript	missense_variant	10258/11949	10192/10872	3398/3623	D/Y	Gac/Tac		1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3	tolerated(0.07)		64/67		PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	16835184	16835184	C	A	1	0	0	0	0	1	0	0	0	3861	913	32	2		2	CUBN	10	16835184	Missense_Mutation	SNP	C	C3N-00547_TP	9258296	16835184	116962238	368	15829	338	2									
CUBN	0	.	GRCh38	chr10	16835185	16835185	+	Missense_Mutation	SNP	T	T	G																															ccaaatgccttgtgatagtcTctgttgcaatcttagaggaa																								novel		C3N-00547_TP	C3N-00547_NB	T	T																c.10191A>C	p.Arg3397Ser	p.R3397S	ENST00000377833	64/67	250	222	28	256	256	0	strelka-varscan-mutect	CUBN,missense_variant,p.Arg3397Ser,ENST00000377833,NM_001081.3;	G	ENST00000377833	Transcript	missense_variant	10257/11949	10191/10872	3397/3623	R/S	agA/agC		1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3	deleterious(0.02)		64/67		PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	16835185	16835185	T	G	1	0	0	0	0	1	0	0	0	3861	1548	54	5		5	CUBN	10	16835185	Missense_Mutation	SNP	T	C3N-00547_TP	1	16835185	116962237	369	15830	338	2									
ST8SIA6	0	.	GRCh38	chr10	17327071	17327071	+	Frame_Shift_Del	DEL	C	C	-																															agagagacttattcagaattCccccatttccgaccactgca																										C3N-00547_TP	C3N-00547_NB	C	C																c.578delG	p.Gly193GlufsTer3	p.G193Efs*3	ENST00000377602	6/8	79	53	26	98	98	0	sindel-varindel-pindel	ST8SIA6,frameshift_variant,p.Gly193GlufsTer3,ENST00000377602,NM_001004470.1;ST8SIA6,frameshift_variant,p.Gly14GlufsTer3,ENST00000440449,;	-	ENST00000377602	Transcript	frameshift_variant	653/2276	578/1197	193/398	G/X	gGa/ga	COSM285395,COSM4176213	1		-1	ST8SIA6	HGNC	HGNC:23317	protein_coding	YES	CCDS31158.1	ENSP00000366827	P61647		UPI0000359594	NM_001004470.1			6/8		hmmpanther:PTHR11987:SF29,hmmpanther:PTHR11987,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557											1,1						HIGH	1	deletion	1		1,1	1										PASS		.	.												-	7	5	50	17327071	17327071	C	-	1	0	1	0	1	0	0	0	0	15614	855	30	0		0	ST8SIA6	10	17327071	Frame_Shift_Del	DEL	C	C3N-00547_TP	491886	17327071	116470351	370	15831											
CACNB2	0	.	GRCh38	chr10	18402019	18402019	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagaagcggagcggcaggcCcaggcacagttggaaaaagc	14	2	16	9	2	0	1	0	0	0	1	0	4	0	3	1	5	3	3	1	5	3	1	rs112611808		C3N-00547_TP	C3N-00547_NB	C	C																c.309C>A	p.=	p.A103A	ENST00000324631	3/14	535	365	170	583	583	0	strelka-varscan-mutect	CACNB2,synonymous_variant,p.=,ENST00000396576,NM_000724.3;CACNB2,synonymous_variant,p.=,ENST00000617363,;CACNB2,synonymous_variant,p.=,ENST00000612134,;CACNB2,synonymous_variant,p.=,ENST00000615785,;CACNB2,synonymous_variant,p.=,ENST00000282343,NM_201571.3,NM_001167945.1;CACNB2,synonymous_variant,p.=,ENST00000377315,NM_201570.2;CACNB2,synonymous_variant,p.=,ENST00000324631,NM_201596.2,NM_201593.2;CACNB2,synonymous_variant,p.=,ENST00000377329,NM_201590.2;CACNB2,synonymous_variant,p.=,ENST00000377319,;CACNB2,synonymous_variant,p.=,ENST00000352115,NM_201597.2;CACNB2,synonymous_variant,p.=,ENST00000377331,NM_201572.3;CACNB2,synonymous_variant,p.=,ENST00000377328,;CACNB2,intron_variant,,ENST00000612743,;CACNB2,non_coding_transcript_exon_variant,,ENST00000498816,;	A	ENST00000324631	Transcript	synonymous_variant	369/3446	309/1983	103/660	A	gcC/gcA	rs112611808	1		1	CACNB2	HGNC	HGNC:1402	protein_coding	YES	CCDS7125.1	ENSP00000320025	Q08289		UPI00001AEA80	NM_201596.2,NM_201593.2			3/14		Low_complexity_(Seg):seg,hmmpanther:PTHR11824:SF9,hmmpanther:PTHR11824,Pfam_domain:PF12052,Gene3D:2.30.30.40,Superfamily_domains:SSF50044																	LOW	1	SNV	1			1										PASS		rs112611808	.												A	2	1	50	18402019	18402019	C	A	1	0	0	0	0	0	0	0	1	2241	610	22	2		2	CACNB2	10	18402019	Silent	SNP	C	C3N-00547_TP	1074948	18402019	115395403	371	15832											
MKX	0	.	GRCh38	chr10	27743255	27743255	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccggtgtctcaggccgaggTtgtccttgaggggcgggccg	3	9	18	11	4	1	1	1	1	1	0	4	2	3	1	4	6	0	1	4	6	0	2	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.161A>T	p.Asn54Ile	p.N54I	ENST00000375790	2/7	30	26	4	69	69	0	varscan-mutect	MKX,missense_variant,p.Asn54Ile,ENST00000375790,;MKX,missense_variant,p.Asn54Ile,ENST00000419761,NM_173576.2,NM_001242702.1;MKX,missense_variant,p.Asn54Ile,ENST00000460919,;MKX,missense_variant,p.Asn54Ile,ENST00000561227,;MKX-AS1,upstream_gene_variant,,ENST00000419777,;	A	ENST00000375790	Transcript	missense_variant	594/3846	161/1059	54/352	N/I	aAc/aTc		1		-1	MKX	HGNC	HGNC:23729	protein_coding	YES	CCDS7156.1	ENSP00000364946	Q8IYA7		UPI0000161911		tolerated_low_confidence(0.08)		2/7		hmmpanther:PTHR11211:SF3,hmmpanther:PTHR11211																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	27743255	27743255	T	A	1	0	0	0	0	1	0	0	0	9578	1725	60	4		4	MKX	10	27743255	Missense_Mutation	SNP	T	C3N-00547_TP	9341236	27743255	106054167	372	15833											
ANKRD30A	0	.	GRCh38	chr10	37130217	37130217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgacaggctctacaatgcCatcaggaggcttgtgcaaat	12	9	10	10	0	2	1	1	1	1	0	2	2	2	2	1	3	3	3	1	3	3	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.181C>A	p.His61Asn	p.H61N	ENST00000361713	3/36	139	82	57	285	284	1	strelka-varscan-mutect	ANKRD30A,missense_variant,p.His61Asn,ENST00000374660,;ANKRD30A,missense_variant,p.His117Asn,ENST00000611781,;ANKRD30A,missense_variant,p.His61Asn,ENST00000602533,;ANKRD30A,missense_variant,p.His61Asn,ENST00000361713,NM_052997.2;	A	ENST00000361713	Transcript	missense_variant	280/4405	181/4026	61/1341	H/N	Cat/Aat		1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2	deleterious(0.03)		3/36		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	37130217	37130217	C	A	1	0	0	0	0	1	0	0	0	761	594	21	2		2	ANKRD30A	10	37130217	Missense_Mutation	SNP	C	C3N-00547_TP	9386962	37130217	96667205	373	15834											
ANKRD30A	0	.	GRCh38	chr10	37141861	37141862	+	Frame_Shift_Ins	INS	-	-	A																															cacggctgaaagcttggtggINSaaaaaacacctgatgaggct																								novel		C3N-00547_TP	C3N-00547_NB	-	-																c.802dupA	p.Thr268AsnfsTer3	p.T268Nfs*3	ENST00000361713	7/36	377	335	42	474	474	0	sindel-varindel	ANKRD30A,frameshift_variant,p.Thr268AsnfsTer3,ENST00000374660,;ANKRD30A,frameshift_variant,p.Thr324AsnfsTer3,ENST00000611781,;ANKRD30A,frameshift_variant,p.Thr268AsnfsTer3,ENST00000602533,;ANKRD30A,frameshift_variant,p.Thr268AsnfsTer3,ENST00000361713,NM_052997.2;	A	ENST00000361713	Transcript	frameshift_variant	895-896/4405	796-797/4026	266/1341	E/EX	gaa/gAaa		1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2			7/36																			HIGH	1	insertion	5	6		1										PASS		.	.												A	7	5	50	37141861	37141861	-	A	1	0	1	1	0	0	0	0	0	761	1175	41	0		0	ANKRD30A	10	37141861	Frame_Shift_Ins	INS	-	C3N-00547_TP	11644	37141861	96655561	374	15835											
ANKRD30A	0	.	GRCh38	chr10	37219320	37219320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaccatcctagactggCttctgctgtacaagaccatg	11	10	7	13	0	2	2	1	0	1	2	3	2	3	2	3	1	2	3	3	1	3	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.3440C>T	p.Ala1147Val	p.A1147V	ENST00000361713	34/36	130	116	14	166	166	0	strelka-varscan-mutect	ANKRD30A,missense_variant,p.Ala1266Val,ENST00000374660,;ANKRD30A,missense_variant,p.Ala1203Val,ENST00000611781,;ANKRD30A,missense_variant,p.Ala1147Val,ENST00000602533,;ANKRD30A,missense_variant,p.Ala1147Val,ENST00000361713,NM_052997.2;	T	ENST00000361713	Transcript	missense_variant	3539/4405	3440/4026	1147/1341	A/V	gCt/gTt		1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2	tolerated(0.14)		34/36		hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147,Pfam_domain:PF14915																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	37219320	37219320	C	T	1	0	0	0	0	1	0	0	0	761	797	28	3		3	ANKRD30A	10	37219320	Missense_Mutation	SNP	C	C3N-00547_TP	77459	37219320	96578102	375	15836											
WDFY4	0	.	GRCh38	chr10	48897458	48897458	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtttccttttcagcatcAgcgatccgttcattttcaac	7	16	5	13	2	4	0	4	0	0	0	6	1	6	0	3	0	3	3	3	0	1	6	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.7321A>T	p.Ser2441Cys	p.S2441C	ENST00000325239	44/61	129	69	60	88	88	0	strelka-varscan-mutect	WDFY4,missense_variant,p.Ser2441Cys,ENST00000325239,NM_020945.1;WDFY4,missense_variant,p.Ser528Cys,ENST00000265453,;RP11-523O18.7,intron_variant,,ENST00000430438,;	T	ENST00000325239	Transcript	missense_variant	7321/9555	7321/9555	2441/3184	S/C	Agc/Tgc		1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1	deleterious(0.03)		44/61		Gene3D:1t77A01,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85,Superfamily_domains:SSF50729																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	48897458	48897458	A	T	1	0	0	0	0	1	0	0	0	17831	202	7	4		4	WDFY4	10	48897458	Missense_Mutation	SNP	A	C3N-00547_TP	11678138	48897458	84899964	376	15837											
WDFY4	0	.	GRCh38	chr10	48976817	48976817	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccattgtctcctgtgcGggagcacacttgtccctgtg	5	11	12	13	1	1	0	0	0	1	0	3	1	2	1	3	2	2	2	3	2	0	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.9129G>T	p.=	p.A3043A	ENST00000325239	58/61	43	37	6	32	32	0	strelka-varscan-mutect	WDFY4,synonymous_variant,p.=,ENST00000325239,NM_020945.1;WDFY4,synonymous_variant,p.=,ENST00000265453,;RP11-523O18.5,non_coding_transcript_exon_variant,,ENST00000428825,;WDFY4,non_coding_transcript_exon_variant,,ENST00000465910,;WDFY4,non_coding_transcript_exon_variant,,ENST00000497480,;WDFY4,upstream_gene_variant,,ENST00000490507,;RP11-523O18.5,non_coding_transcript_exon_variant,,ENST00000610464,;	T	ENST00000325239	Transcript	synonymous_variant	9129/9555	9129/9555	3043/3184	A	gcG/gcT		1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1			58/61		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	5			1										PASS		rs1043948661	.												T	2	4	50	48976817	48976817	G	T	1	0	0	0	0	0	0	0	1	17831	1103	39	1		1	WDFY4	10	48976817	Silent	SNP	G	C3N-00547_TP	79359	48976817	84820605	377	15838											
ERCC6	0	.	GRCh38	chr10	49493239	49493239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagacaattacagttggacCcaacccctcaaacctgcatc	14	7	5	15	0	1	1	1	0	0	1	2	2	1	2	4	1	4	2	4	1	4	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1699G>T	p.Gly567Cys	p.G567C	ENST00000355832	8/21	431	247	184	457	455	2	strelka-varscan-mutect	ERCC6,missense_variant,p.Gly567Cys,ENST00000355832,NM_000124.3;ERCC6,non_coding_transcript_exon_variant,,ENST00000623318,;ERCC6,intron_variant,,ENST00000623115,;ERCC6,intron_variant,,ENST00000475116,;ERCC6,non_coding_transcript_exon_variant,,ENST00000623073,;	A	ENST00000355832	Transcript	missense_variant	1778/8008	1699/4482	567/1493	G/C	Ggt/Tgt		1		-1	ERCC6	HGNC	HGNC:3438	protein_coding	YES	CCDS7229.1	ENSP00000348089	Q03468		UPI000000D8DA	NM_000124.3	deleterious(0)		8/21		PROSITE_profiles:PS51192,hmmpanther:PTHR10799:SF752,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	49493239	49493239	C	A	1	0	0	0	0	1	0	0	0	5066	623	22	2		2	ERCC6	10	49493239	Missense_Mutation	SNP	C	C3N-00547_TP	516422	49493239	84304183	378	15839											
PCDH15	0	.	GRCh38	chr10	53840448	53840448	+	Silent	SNP	T	T	C																															cgagctccaatggactccacTacgaccttggcaccaggaat																										C3N-00547_TP	C3N-00547_NB	T	T																c.3870A>G	p.=	p.V1290V	ENST00000373957	30/35	221	207	14	275	275	0	strelka-varscan-mutect	PCDH15,synonymous_variant,p.=,ENST00000614895,;PCDH15,synonymous_variant,p.=,ENST00000373965,NM_001142772.1;PCDH15,synonymous_variant,p.=,ENST00000414778,;PCDH15,synonymous_variant,p.=,ENST00000617051,;PCDH15,synonymous_variant,p.=,ENST00000373957,NM_001142763.1;PCDH15,synonymous_variant,p.=,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,synonymous_variant,p.=,ENST00000395430,NM_001142766.1;PCDH15,synonymous_variant,p.=,ENST00000395433,NM_001142773.1;PCDH15,synonymous_variant,p.=,ENST00000395432,NM_001142767.1;PCDH15,synonymous_variant,p.=,ENST00000320301,NM_033056.3;PCDH15,synonymous_variant,p.=,ENST00000622048,;PCDH15,synonymous_variant,p.=,ENST00000437009,NM_001142765.1;PCDH15,synonymous_variant,p.=,ENST00000617271,NM_001142770.1;PCDH15,synonymous_variant,p.=,ENST00000613657,NM_001142769.1;PCDH15,synonymous_variant,p.=,ENST00000395445,;PCDH15,synonymous_variant,p.=,ENST00000616114,;PCDH15,synonymous_variant,p.=,ENST00000395438,;PCDH15,synonymous_variant,p.=,ENST00000612394,;PCDH15,synonymous_variant,p.=,ENST00000621708,NM_001142771.1;PCDH15,synonymous_variant,p.=,ENST00000409834,;PCDH15,synonymous_variant,p.=,ENST00000495484,;PCDH15,synonymous_variant,p.=,ENST00000618301,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,non_coding_transcript_exon_variant,,ENST00000463095,;PCDH15,missense_variant,p.Ser309Gly,ENST00000414367,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;	C	ENST00000373957	Transcript	synonymous_variant	4265/7032	3870/5889	1290/1962	V	gtA/gtG	COSM4383434,COSM4383435,COSM4383436,COSM4383437	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1			30/35													1,1,1,1						LOW	1	SNV	5		1,1,1,1	1										PASS		.	.												C	2	2	50	53840448	53840448	T	C	1	0	0	0	0	0	0	0	1	11598	1509	53	5		5	PCDH15	10	53840448	Silent	SNP	T	C3N-00547_TP	4347209	53840448	79956974	379	15840	339	2									
PCDH15	0	.	GRCh38	chr10	53840450	53840450	+	Missense_Mutation	SNP	C	C	G																															agctccaatggactccactaCgaccttggcaccaggaattt																								rs144780135		C3N-00547_TP	C3N-00547_NB	C	C																c.3868G>C	p.Val1290Leu	p.V1290L	ENST00000373957	30/35	224	208	16	282	282	0	strelka-varscan-mutect	PCDH15,missense_variant,p.Val1290Leu,ENST00000614895,;PCDH15,missense_variant,p.Val1285Leu,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Val1285Leu,ENST00000414778,;PCDH15,missense_variant,p.Val1290Leu,ENST00000617051,;PCDH15,missense_variant,p.Val1290Leu,ENST00000373957,NM_001142763.1;PCDH15,missense_variant,p.Val1285Leu,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,missense_variant,p.Val1285Leu,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Val1263Leu,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Val1248Leu,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Val1285Leu,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Val1214Leu,ENST00000622048,;PCDH15,missense_variant,p.Val1214Leu,ENST00000437009,NM_001142765.1;PCDH15,missense_variant,p.Val1285Leu,ENST00000617271,NM_001142770.1;PCDH15,missense_variant,p.Val1297Leu,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Val1292Leu,ENST00000395445,;PCDH15,missense_variant,p.Val1285Leu,ENST00000616114,;PCDH15,missense_variant,p.Val1285Leu,ENST00000395438,;PCDH15,missense_variant,p.Val1297Leu,ENST00000612394,;PCDH15,missense_variant,p.Val1290Leu,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Val896Leu,ENST00000409834,;PCDH15,missense_variant,p.Val38Leu,ENST00000495484,;PCDH15,missense_variant,p.Val27Leu,ENST00000618301,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,non_coding_transcript_exon_variant,,ENST00000463095,;PCDH15,missense_variant,p.Arg308Pro,ENST00000414367,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;	G	ENST00000373957	Transcript	missense_variant	4263/7032	3868/5889	1290/1962	V/L	Gta/Cta	rs144780135	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1	tolerated(0.06)		30/35																			MODERATE	1	SNV	5			1										PASS		rs144780135	.												G	3	3	50	53840450	53840450	C	G	1	0	0	0	0	1	0	0	0	11598	536	19	4		4	PCDH15	10	53840450	Missense_Mutation	SNP	C	C3N-00547_TP	2	53840450	79956972	380	15841	339	2									
PALD1	0	.	GRCh38	chr10	70534746	70534746	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctggcaccaggtggacaGagccatcactgcctgtgccg	7	8	12	14	1	2	1	1	0	1	1	3	2	2	2	4	3	3	1	4	3	0	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1130G>C	p.Arg377Thr	p.R377T	ENST00000263563	10/20	160	109	51	165	165	0	strelka-varscan-mutect	PALD1,missense_variant,p.Arg377Thr,ENST00000263563,NM_014431.2;	C	ENST00000263563	Transcript	missense_variant	1398/4555	1130/2571	377/856	R/T	aGa/aCa		1		1	PALD1	HGNC	HGNC:23530	protein_coding	YES	CCDS31215.1	ENSP00000263563	Q9ULE6	A0A024QZM5	UPI00001C1EDC	NM_014431.2	tolerated(0.47)		10/20		hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF54,Gene3D:3.90.190.10,SMART_domains:SM00404																	MODERATE	1	SNV	1			1										PASS		rs1168679438	.												C	3	2	50	70534746	70534746	G	C	1	0	0	0	0	1	0	0	0	11486	942	33	4		4	PALD1	10	70534746	Missense_Mutation	SNP	G	C3N-00547_TP	16694296	70534746	63262676	381	15842											
CDH23	0	.	GRCh38	chr10	71778195	71778195	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtcccccagggtgtcAtcactgctgccaaagagctg	7	9	11	14	0	2	1	2	0	0	1	3	1	3	1	4	1	3	2	4	1	1	0	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.5089A>G	p.Ile1697Val	p.I1697V	ENST00000224721	40/70	165	152	13	176	176	0	strelka-varscan-mutect	CDH23,missense_variant,p.Ile1697Val,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Ile1692Val,ENST00000622827,;C10orf54,upstream_gene_variant,,ENST00000394957,NM_022153.1;	G	ENST00000224721	Transcript	missense_variant	5479/11139	5089/10080	1697/3359	I/V	Atc/Gtc		1		1	CDH23	HGNC	HGNC:13733	protein_coding			ENSP00000224721		A0A0A0MQS6	UPI0002B831D5	NM_022124.5	tolerated(0.26)		40/70		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF277,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	50	71778195	71778195	A	G	1	0	0	0	0	1	0	0	0	2811	217	8	5		5	CDH23	10	71778195	Missense_Mutation	SNP	A	C3N-00547_TP	1243449	71778195	62019227	382	15843											
CDH23	0	.	GRCh38	chr10	71785041	71785041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagtggctgcaatgcaCgcctcaccttcaacatcact	10	9	7	15	1	3	1	3	1	0	0	3	1	3	1	2	1	3	3	2	1	2	1	rs368848049		C3N-00547_TP	C3N-00547_NB	C	C																c.5668C>T	p.Arg1890Cys	p.R1890C	ENST00000224721	43/70	248	230	18	202	202	0	strelka-varscan-mutect	CDH23,missense_variant,p.Arg1890Cys,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Arg1885Cys,ENST00000622827,;	T	ENST00000224721	Transcript	missense_variant	6058/11139	5668/10080	1890/3359	R/C	Cgc/Tgc	rs368848049,COSM3967143	1		1	CDH23	HGNC	HGNC:13733	protein_coding			ENSP00000224721		A0A0A0MQS6	UPI0002B831D5	NM_022124.5	tolerated(0.08)		43/70		PROSITE_profiles:PS50268,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs368848049	.												T	3	4	50	71785041	71785041	C	T	1	0	0	0	0	1	0	0	0	2811	536	19	1		1	CDH23	10	71785041	Missense_Mutation	SNP	C	C3N-00547_TP	6846	71785041	62012381	383	15844											
PLA2G12B	0	.	GRCh38	chr10	72954514	72954514	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagactccattcttccctcCcagcagctccagaaaagaat	13	8	5	15	0	1	3	0	0	1	3	5	3	5	3	4	0	2	2	4	0	3	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.172G>C	p.Gly58Arg	p.G58R	ENST00000373032	1/4	320	291	29	338	338	0	strelka-varscan-mutect	PLA2G12B,missense_variant,p.Gly58Arg,ENST00000373032,NM_032562.3;	G	ENST00000373032	Transcript	missense_variant	265/1128	172/588	58/195	G/R	Gga/Cga		1		-1	PLA2G12B	HGNC	HGNC:18555	protein_coding	YES	CCDS7319.1	ENSP00000362123	Q9BX93		UPI0000131168	NM_032562.3	deleterious(0)		1/4		Pfam_domain:PF06951,hmmpanther:PTHR12824,hmmpanther:PTHR12824:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	72954514	72954514	C	G	1	0	0	0	0	1	0	0	0	12087	632	22	4		4	PLA2G12B	10	72954514	Missense_Mutation	SNP	C	C3N-00547_TP	1169473	72954514	60842908	384	15845											
KAT6B	0	.	GRCh38	chr10	75028972	75028972	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtagaaaaagatccagAtggtgctaaaagccaagaaa	21	6	9	5	0	0	4	0	0	0	4	1	4	1	4	2	1	2	2	2	1	8	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.4148A>T	p.Asp1383Val	p.D1383V	ENST00000287239	18/18	688	427	261	644	644	0	strelka-varscan-mutect	KAT6B,missense_variant,p.Asp1383Val,ENST00000287239,NM_012330.3;KAT6B,missense_variant,p.Asp1200Val,ENST00000372711,NM_001256468.1;KAT6B,missense_variant,p.Asp1091Val,ENST00000372724,NM_001256469.1;KAT6B,missense_variant,p.Asp1091Val,ENST00000372725,;KAT6B,missense_variant,p.Asp1091Val,ENST00000372714,;RP11-77G23.5,upstream_gene_variant,,ENST00000436608,;RP11-77G23.2,upstream_gene_variant,,ENST00000413431,;KAT6B,downstream_gene_variant,,ENST00000490365,;	T	ENST00000287239	Transcript	missense_variant	4637/8287	4148/6222	1383/2073	D/V	gAt/gTt		1		1	KAT6B	HGNC	HGNC:17582	protein_coding	YES	CCDS7345.1	ENSP00000287239	Q8WYB5		UPI000013DEA0	NM_012330.3	tolerated_low_confidence(0.08)		18/18																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	75028972	75028972	A	T	1	0	0	0	0	1	0	0	0	7899	333	12	4		4	KAT6B	10	75028972	Missense_Mutation	SNP	A	C3N-00547_TP	2074458	75028972	58768450	385	15846											
KCNMA1	0	.	GRCh38	chr10	76910058	76910058	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtatcagggtcatcatCatcgtcttggtccaaaaact	10	14	7	10	1	6	0	4	0	2	0	8	0	7	0	1	2	1	1	1	2	3	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.3055G>T	p.Asp1019Tyr	p.D1019Y	ENST00000286628	25/28	495	455	40	664	664	0	strelka-varscan-mutect	KCNMA1,missense_variant,p.Asp826Tyr,ENST00000604624,NM_001322832.1,NM_001322829.1;KCNMA1,missense_variant,p.Asp961Tyr,ENST00000286627,NM_002247.3;KCNMA1,missense_variant,p.Asp1019Tyr,ENST00000286628,NM_001161352.1;KCNMA1,missense_variant,p.Asp854Tyr,ENST00000354353,;KCNMA1,missense_variant,p.Asp823Tyr,ENST00000406533,NM_001322837.1,NM_001271519.1;KCNMA1,missense_variant,p.Asp988Tyr,ENST00000372443,;KCNMA1,missense_variant,p.Asp961Tyr,ENST00000372440,NM_001014797.2;KCNMA1,missense_variant,p.Asp1019Tyr,ENST00000404771,;KCNMA1,missense_variant,p.Asp993Tyr,ENST00000457953,;KCNMA1,missense_variant,p.Asp1002Tyr,ENST00000626620,NM_001161353.1;KCNMA1,missense_variant,p.Asp954Tyr,ENST00000372437,;KCNMA1,missense_variant,p.Asp935Tyr,ENST00000372421,;KCNMA1,missense_variant,p.Asp898Tyr,ENST00000372408,;KCNMA1,missense_variant,p.Asp912Tyr,ENST00000372403,;KCNMA1,missense_variant,p.Asp797Tyr,ENST00000404857,NM_001271518.1;KCNMA1,missense_variant,p.Asp669Tyr,ENST00000434208,;KCNMA1-AS1,intron_variant,,ENST00000600782,;KCNMA1-AS1,intron_variant,,ENST00000426234,;KCNMA1-AS1,intron_variant,,ENST00000458661,;KCNMA1-AS1,downstream_gene_variant,,ENST00000429850,;	A	ENST00000286628	Transcript	missense_variant	3055/6100	3055/3711	1019/1236	D/Y	Gat/Tat		1		-1	KCNMA1	HGNC	HGNC:6284	protein_coding	YES	CCDS60569.1	ENSP00000286628	Q12791		UPI00003519E7	NM_001161352.1	deleterious(0)		25/28		Prints_domain:PR01449,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF28,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	76910058	76910058	C	A	1	0	0	0	0	1	0	0	0	7990	826	29	2		2	KCNMA1	10	76910058	Missense_Mutation	SNP	C	C3N-00547_TP	1881086	76910058	56887364	386	15847											
LRIT1	0	.	GRCh38	chr10	84234357	84234357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagagtcggcagtcacatGcccaggggttgtcctgtagc	8	9	13	11	1	1	1	1	0	0	1	3	1	2	1	2	3	2	3	2	3	2	3			C3N-00547_TP	C3N-00547_NB	G	G																c.611C>A	p.Ala204Glu	p.A204E	ENST00000372105	3/4	21	17	4	35	35	0	strelka-varscan-mutect	LRIT1,missense_variant,p.Ala204Glu,ENST00000372105,NM_015613.2;	T	ENST00000372105	Transcript	missense_variant	633/2228	611/1872	204/623	A/E	gCa/gAa	COSM4016333	1		-1	LRIT1	HGNC	HGNC:23404	protein_coding	YES	CCDS7373.1	ENSP00000361177	Q9P2V4		UPI000006F66C	NM_015613.2	tolerated(0.09)		3/4		Gene3D:3.80.10.10,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF9,SMART_domains:SM00082,Superfamily_domains:SSF52058											1						MODERATE	1	SNV	1		1	1										PASS		rs1419214268	.												T	3	4	50	84234357	84234357	G	T	1	0	0	0	0	1	0	0	0	8842	1319	46	2		2	LRIT1	10	84234357	Missense_Mutation	SNP	G	C3N-00547_TP	7324299	84234357	49563065	387	15848											
LIPK	0	.	GRCh38	chr10	88740065	88740065	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatatgctgcactgggctCaggtaagtgcttcttattcc	9	13	10	9	0	2	1	1	0	1	1	3	1	3	1	1	2	3	5	1	2	4	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.886C>A	p.Gln296Lys	p.Q296K	ENST00000404190	7/9	113	71	42	168	168	0	strelka-varscan-mutect	LIPK,missense_variant,p.Gln296Lys,ENST00000404190,NM_001080518.1;	A	ENST00000404190	Transcript	missense_variant,splice_region_variant	886/1230	886/1200	296/399	Q/K	Cag/Aag		1		1	LIPK	HGNC	HGNC:23444	protein_coding	YES	CCDS44455.1	ENSP00000383900	Q5VXJ0		UPI00000497BC	NM_001080518.1	deleterious(0)		7/9		hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF45,PIRSF_domain:PIRSF000862,Gene3D:3.40.50.1820,Pfam_domain:PF00561,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	88740065	88740065	C	A	1	0	0	0	0	1	0	0	0	8748	840	29	2		2	LIPK	10	88740065	Missense_Mutation	SNP	C	C3N-00547_TP	4505708	88740065	45057357	388	15849											
CYP26A1	0	.	GRCh38	chr10	93075897	93075897	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgcagccacatctctGatcacttacctggggctcta	8	10	9	14	0	3	1	1	1	2	0	4	1	3	1	3	2	3	2	3	2	2	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.936G>T	p.=	p.L312L	ENST00000224356	5/7	195	137	58	207	206	1	strelka-varscan-mutect	CYP26A1,synonymous_variant,p.=,ENST00000371531,NM_057157.2;CYP26A1,synonymous_variant,p.=,ENST00000224356,NM_000783.3;RP11-348J12.5,downstream_gene_variant,,ENST00000624651,;CYP26A1,missense_variant,p.Asp237Tyr,ENST00000624589,;CYP26A1,non_coding_transcript_exon_variant,,ENST00000623162,;CYP26A1,downstream_gene_variant,,ENST00000622925,;CYP26A1,upstream_gene_variant,,ENST00000625202,;	T	ENST00000224356	Transcript	synonymous_variant	981/2125	936/1494	312/497	L	ctG/ctT		1		1	CYP26A1	HGNC	HGNC:2603	protein_coding	YES	CCDS7426.1	ENSP00000224356	O43174		UPI000013E48F	NM_000783.3			5/7		Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00385,hmmpanther:PTHR24286,Superfamily_domains:SSF48264																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	93075897	93075897	G	T	1	0	0	0	0	0	0	0	1	3958	1277	45	2		2	CYP26A1	10	93075897	Silent	SNP	G	C3N-00547_TP	4335832	93075897	40721525	389	15850											
CYP26A1	0	.	GRCh38	chr10	93077219	93077219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgactggcagcttctaaatgGacctcctacaatgaaaacca	14	9	7	11	0	1	2	0	2	1	0	2	3	2	3	3	2	3	2	3	2	6	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1409G>T	p.Gly470Val	p.G470V	ENST00000224356	7/7	68	54	14	83	83	0	strelka-varscan-mutect	CYP26A1,missense_variant,p.Gly401Val,ENST00000371531,NM_057157.2;CYP26A1,missense_variant,p.Gly470Val,ENST00000224356,NM_000783.3;RP11-348J12.5,downstream_gene_variant,,ENST00000624651,;CYP26A1,3_prime_UTR_variant,,ENST00000624589,;CYP26A1,non_coding_transcript_exon_variant,,ENST00000623162,;CYP26A1,downstream_gene_variant,,ENST00000622925,;CYP26A1,downstream_gene_variant,,ENST00000625202,;	T	ENST00000224356	Transcript	missense_variant	1454/2125	1409/1494	470/497	G/V	gGa/gTa		1		1	CYP26A1	HGNC	HGNC:2603	protein_coding	YES	CCDS7426.1	ENSP00000224356	O43174		UPI000013E48F	NM_000783.3	tolerated(0.23)		7/7		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24286,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	93077219	93077219	G	T	1	0	0	0	0	1	0	0	0	3958	1174	41	2		2	CYP26A1	10	93077219	Missense_Mutation	SNP	G	C3N-00547_TP	1322	93077219	40720203	390	15851											
PLCE1	0	.	GRCh38	chr10	94246064	94246064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accatgggacggagctcatcCcttggtacgtgctgtccatc	7	10	11	13	2	1	0	1	0	0	0	4	2	3	2	3	3	3	3	3	3	1	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2539C>A	p.Pro847Thr	p.P847T	ENST00000371380	7/32	445	399	46	496	496	0	strelka-varscan-mutect	PLCE1,missense_variant,p.Pro847Thr,ENST00000371380,NM_016341.3,NM_001288989.1;PLCE1,missense_variant,p.Pro539Thr,ENST00000371375,;PLCE1,missense_variant,p.Pro539Thr,ENST00000371385,NM_001165979.2;	A	ENST00000371380	Transcript	missense_variant	2774/12024	2539/6909	847/2302	P/T	Cct/Act		1		1	PLCE1	HGNC	HGNC:17175	protein_coding	YES	CCDS41552.1	ENSP00000360431	Q9P212		UPI00001F93EE	NM_016341.3,NM_001288989.1	deleterious(0)		7/32		Superfamily_domains:0041591																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	94246064	94246064	C	A	1	0	0	0	0	1	0	0	0	12128	623	22	2		2	PLCE1	10	94246064	Missense_Mutation	SNP	C	C3N-00547_TP	1168845	94246064	39551358	391	15852											
PLCE1	0	.	GRCh38	chr10	94252335	94252335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggatggacggtatgaagGcccaactttggctcacgctg	9	8	15	9	2	1	1	1	1	0	0	1	4	1	4	1	6	1	3	1	6	3	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.3116G>T	p.Gly1039Val	p.G1039V	ENST00000371380	8/32	207	145	62	215	215	0	strelka-varscan-mutect	PLCE1,missense_variant,p.Gly1039Val,ENST00000371380,NM_016341.3,NM_001288989.1;PLCE1,missense_variant,p.Gly731Val,ENST00000371375,;PLCE1,missense_variant,p.Gly731Val,ENST00000371385,NM_001165979.2;	T	ENST00000371380	Transcript	missense_variant	3351/12024	3116/6909	1039/2302	G/V	gGc/gTc		1		1	PLCE1	HGNC	HGNC:17175	protein_coding	YES	CCDS41552.1	ENSP00000360431	Q9P212		UPI00001F93EE	NM_016341.3,NM_001288989.1	deleterious(0)		8/32																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	94252335	94252335	G	T	1	0	0	0	0	1	0	0	0	12128	1203	42	2		2	PLCE1	10	94252335	Missense_Mutation	SNP	G	C3N-00547_TP	6271	94252335	39545087	392	15853											
PLCE1	0	.	GRCh38	chr10	94270548	94270548	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgccaatcatcatatcGattgagaaccactgttcatt	12	12	6	11	1	3	1	3	1	0	1	4	4	3	1	3	0	2	1	3	0	3	4	rs759614140		C3N-00547_TP	C3N-00547_NB	G	G																c.4452G>T	p.=	p.S1484S	ENST00000371380	17/32	460	411	49	578	577	1	strelka-varscan-mutect	PLCE1,synonymous_variant,p.=,ENST00000371380,NM_016341.3,NM_001288989.1;PLCE1,synonymous_variant,p.=,ENST00000371375,;PLCE1,synonymous_variant,p.=,ENST00000371385,NM_001165979.2;	T	ENST00000371380	Transcript	synonymous_variant	4687/12024	4452/6909	1484/2302	S	tcG/tcT	rs759614140	1		1	PLCE1	HGNC	HGNC:17175	protein_coding	YES	CCDS41552.1	ENSP00000360431	Q9P212		UPI00001F93EE	NM_016341.3,NM_001288989.1			17/32		Gene3D:3.20.20.190,Pfam_domain:PF00388,PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF6,SMART_domains:SM00148,Superfamily_domains:SSF51695																	LOW	1	SNV	1			1										PASS		rs759614140	.												T	2	4	50	94270548	94270548	G	T	1	0	0	0	0	0	0	0	1	12128	1045	37	1		1	PLCE1	10	94270548	Silent	SNP	G	C3N-00547_TP	18213	94270548	39526874	393	15854											
HOGA1	0	.	GRCh38	chr10	97599179	97599179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttgctactatcgtggccGcatgagcagtgcggccctca	6	9	11	15	3	1	1	1	1	0	0	2	1	1	1	3	2	4	3	3	2	2	3			C3N-00547_TP	C3N-00547_NB	G	G																c.431G>A	p.Arg144His	p.R144H	ENST00000370646	3/7	199	183	16	181	181	0	strelka-varscan-mutect	HOGA1,missense_variant,p.Arg144His,ENST00000370646,NM_138413.3;HOGA1,intron_variant,,ENST00000370647,NM_001134670.1;RP11-548K23.11,intron_variant,,ENST00000370649,;HOGA1,upstream_gene_variant,,ENST00000370642,;HOGA1,non_coding_transcript_exon_variant,,ENST00000465608,;	A	ENST00000370646	Transcript	missense_variant	792/2488	431/984	144/327	R/H	cGc/cAc	COSM922051	1		1	HOGA1	HGNC	HGNC:25155	protein_coding	YES	CCDS7467.1	ENSP00000359680	Q86XE5		UPI000000DAE5	NM_138413.3	tolerated(0.08)		3/7		hmmpanther:PTHR12128:SF23,hmmpanther:PTHR12128,Pfam_domain:PF00701,Gene3D:3.20.20.70,PIRSF_domain:PIRSF001365,SMART_domains:SM01130,Superfamily_domains:SSF51569											1						MODERATE	1	SNV	1		1	1										PASS		rs1371902226	.												A	3	1	50	97599179	97599179	G	A	1	0	0	0	0	1	0	0	0	7171	1087	38	1		1	HOGA1	10	97599179	Missense_Mutation	SNP	G	C3N-00547_TP	3328631	97599179	36198243	394	15855											
CHUK	0	.	GRCh38	chr10	100207299	100207299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatacagttttacttttatCaaacaaataaaccatatagc	18	14	2	7	0	1	0	1	0	0	0	1	0	1	0	1	0	5	1	1	0	10	9	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1162G>A	p.Asp388Asn	p.D388N	ENST00000370397	11/21	182	164	18	208	208	0	strelka-varscan-mutect	CHUK,missense_variant,p.Asp388Asn,ENST00000370397,NM_001320928.1,NM_001278.3;	T	ENST00000370397	Transcript	missense_variant	1249/3625	1162/2238	388/745	D/N	Gat/Aat		1		-1	CHUK	HGNC	HGNC:1974	protein_coding	YES	CCDS7488.1	ENSP00000359424	O15111		UPI000013D6C7	NM_001320928.1,NM_001278.3	tolerated(0.06)		11/21		hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF13																	MODERATE	1	SNV	1			1										PASS		rs1454848409	.												T	3	4	50	100207299	100207299	C	T	1	0	0	0	0	1	0	0	0	3177	826	29	3		3	CHUK	10	100207299	Missense_Mutation	SNP	C	C3N-00547_TP	2608120	100207299	33590123	395	15856											
SEC31B	0	.	GRCh38	chr10	100496369	100496369	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggcagggcctgggctcacCccatgaggaccccgcagttg	6	6	15	14	1	1	1	1	1	0	0	1	2	1	2	5	4	0	4	5	4	0	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2199G>T	p.=	p.G733G	ENST00000370345	18/26	184	120	64	203	203	0	strelka-varscan-mutect	SEC31B,synonymous_variant,p.=,ENST00000370345,NM_015490.3;SEC31B,non_coding_transcript_exon_variant,,ENST00000469824,;SEC31B,downstream_gene_variant,,ENST00000494350,;SEC31B,3_prime_UTR_variant,,ENST00000479697,;SEC31B,3_prime_UTR_variant,,ENST00000462434,;SEC31B,3_prime_UTR_variant,,ENST00000469546,;SEC31B,3_prime_UTR_variant,,ENST00000482456,;SEC31B,non_coding_transcript_exon_variant,,ENST00000484848,;SEC31B,downstream_gene_variant,,ENST00000498298,;	A	ENST00000370345	Transcript	synonymous_variant	2297/4612	2199/3540	733/1179	G	ggG/ggT		1		-1	SEC31B	HGNC	HGNC:23197	protein_coding	YES	CCDS7495.1	ENSP00000359370	Q9NQW1		UPI0000070A8E	NM_015490.3			18/26		hmmpanther:PTHR13923:SF22,hmmpanther:PTHR13923																	LOW	1	SNV	1			1										PASS		rs964873122	.												A	2	1	50	100496369	100496369	C	A	1	0	0	0	0	0	0	0	1	14276	610	22	2		2	SEC31B	10	100496369	Silent	SNP	C	C3N-00547_TP	289070	100496369	33301053	396	15857											
SFXN2	0	.	GRCh38	chr10	102726729	102726729	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcacttcctaaacatcacGgacccccgcactgtctttgt	10	10	6	15	2	2	0	1	0	1	0	3	1	3	1	3	1	2	2	3	1	3	3	rs201760534		C3N-00547_TP	C3N-00547_NB	G	G																c.93G>C	p.=	p.T31T	ENST00000369893	2/12	209	132	77	234	234	0	strelka-varscan-mutect	SFXN2,synonymous_variant,p.=,ENST00000369893,NM_178858.4;SFXN2,synonymous_variant,p.=,ENST00000602831,;SFXN2,synonymous_variant,p.=,ENST00000602868,;SFXN2,synonymous_variant,p.=,ENST00000602764,;SFXN2,synonymous_variant,p.=,ENST00000602439,;SFXN2,downstream_gene_variant,,ENST00000602647,;SFXN2,non_coding_transcript_exon_variant,,ENST00000602785,;SFXN2,synonymous_variant,p.=,ENST00000459894,;SFXN2,synonymous_variant,p.=,ENST00000480358,;SFXN2,synonymous_variant,p.=,ENST00000602544,;SFXN2,synonymous_variant,p.=,ENST00000602670,;SFXN2,non_coding_transcript_exon_variant,,ENST00000602660,;SFXN2,non_coding_transcript_exon_variant,,ENST00000602287,;	C	ENST00000369893	Transcript	synonymous_variant	260/6866	93/969	31/322	T	acG/acC	rs201760534	1		1	SFXN2	HGNC	HGNC:16086	protein_coding	YES	CCDS7539.1	ENSP00000358909	Q96NB2		UPI0000001241	NM_178858.4			2/12		hmmpanther:PTHR11153,hmmpanther:PTHR11153:SF14,TIGRFAM_domain:TIGR00798,Pfam_domain:PF03820																	LOW	1	SNV	1			1										PASS		rs201760534	.												C	2	2	50	102726729	102726729	G	C	1	0	0	0	0	0	0	0	1	14455	1103	39	4		4	SFXN2	10	102726729	Silent	SNP	G	C3N-00547_TP	2230360	102726729	31070693	397	15858											
SORCS1	0	.	GRCh38	chr10	106577459	106577459	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagatccccgctttggCgttgaaggcggagtggcgtg	6	8	16	11	4	0	2	0	1	0	1	1	3	1	3	3	4	1	3	3	4	1	2			C3N-00547_TP	C3N-00547_NB	C	C																c.3468G>C	p.=	p.T1156T	ENST00000263054	26/26	243	219	24	253	253	0	strelka-varscan-mutect	SORCS1,synonymous_variant,p.=,ENST00000263054,NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1;SORCS1,synonymous_variant,p.=,ENST00000622431,;SORCS1,3_prime_UTR_variant,,ENST00000612154,;SORCS1,3_prime_UTR_variant,,ENST00000369698,;SORCS1,intron_variant,,ENST00000452214,;SORCS1,downstream_gene_variant,,ENST00000344440,;SORCS1,non_coding_transcript_exon_variant,,ENST00000473866,;	G	ENST00000263054	Transcript	synonymous_variant	3476/7272	3468/3507	1156/1168	T	acG/acC	COSM1345698	1		-1	SORCS1	HGNC	HGNC:16697	protein_coding	YES	CCDS7559.1	ENSP00000263054	Q8WY21		UPI00001AE866	NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1			26/26													1						LOW	1	SNV	1		1	1										PASS		rs931166469	.												G	2	3	50	106577459	106577459	C	G	1	0	0	0	0	0	0	0	1	15252	755	27	4		4	SORCS1	10	106577459	Silent	SNP	C	C3N-00547_TP	3850730	106577459	27219963	398	15859											
RBM20	0	.	GRCh38	chr10	110781835	110781835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggtgtggcccccctccActtgccgcatatctgtagca	6	10	9	16	2	2	0	1	0	1	0	3	0	3	0	5	2	2	3	5	2	2	3	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1226A>G	p.His409Arg	p.H409R	ENST00000369519	2/14	313	273	40	523	523	0	strelka-varscan-mutect	RBM20,missense_variant,p.His409Arg,ENST00000369519,NM_001134363.2;	G	ENST00000369519	Transcript	missense_variant	1284/7233	1226/3684	409/1227	H/R	cAc/cGc		1		1	RBM20	HGNC	HGNC:27424	protein_coding	YES	CCDS44477.1	ENSP00000358532	Q5T481		UPI00044338F1	NM_001134363.2	deleterious(0.04)		2/14		hmmpanther:PTHR15592:SF10,hmmpanther:PTHR15592,SMART_domains:SM00451																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	110781835	110781835	A	G	1	0	0	0	0	1	0	0	0	13287	159	6	5		5	RBM20	10	110781835	Missense_Mutation	SNP	A	C3N-00547_TP	4204376	110781835	23015587	399	15860											
ABLIM1	0	.	GRCh38	chr10	114465786	114465786	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgatggagccctggctCgtggaccgatggatcatccg	7	9	15	10	3	1	1	1	1	0	0	3	6	2	4	3	4	1	2	3	4	0	1	rs758416758		C3N-00547_TP	C3N-00547_NB	C	C																c.1353G>T	p.=	p.T451T	ENST00000277895	12/23	186	121	65	249	249	0	strelka-varscan-mutect	ABLIM1,synonymous_variant,p.=,ENST00000369252,NM_001322882.1;ABLIM1,synonymous_variant,p.=,ENST00000533213,;ABLIM1,synonymous_variant,p.=,ENST00000392955,NM_001003407.1;ABLIM1,synonymous_variant,p.=,ENST00000392952,NM_001322893.1,NM_001322896.1,NM_001322890.1,NM_001322891.1,NM_001322892.1,NM_006720.3;ABLIM1,synonymous_variant,p.=,ENST00000369256,NM_001003408.1;ABLIM1,synonymous_variant,p.=,ENST00000277895,NM_002313.5;ABLIM1,synonymous_variant,p.=,ENST00000369253,;ABLIM1,synonymous_variant,p.=,ENST00000369266,;ABLIM1,synonymous_variant,p.=,ENST00000428430,;ABLIM1,synonymous_variant,p.=,ENST00000440467,;ABLIM1,non_coding_transcript_exon_variant,,ENST00000466400,;	A	ENST00000277895	Transcript	synonymous_variant	1451/2657	1353/2337	451/778	T	acG/acT	rs758416758	1		-1	ABLIM1	HGNC	HGNC:78	protein_coding	YES	CCDS7590.1	ENSP00000277895	O14639		UPI0000418D06	NM_002313.5			12/23		hmmpanther:PTHR24213,hmmpanther:PTHR24213:SF18,Pfam_domain:PF16182																	LOW	1	SNV	5			1										PASS		rs758416758	.												A	2	1	50	114465786	114465786	C	A	1	0	0	0	0	0	0	0	1	104	871	31	1		1	ABLIM1	10	114465786	Silent	SNP	C	C3N-00547_TP	3683951	114465786	19331636	400	15861											
FAM160B1	0	.	GRCh38	chr10	114860781	114860781	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttacaagtaacctcagtGttatctagactttctctctt	11	16	4	10	0	4	1	1	0	3	1	5	1	4	1	1	0	3	2	1	0	6	6	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1980G>C	p.=	p.V660V	ENST00000369248	15/17	209	195	14	176	176	0	strelka-mutect	FAM160B1,synonymous_variant,p.=,ENST00000369248,NM_020940.3;FAM160B1,synonymous_variant,p.=,ENST00000369250,NM_001135051.1;FAM160B1,upstream_gene_variant,,ENST00000411414,;	C	ENST00000369248	Transcript	synonymous_variant	2315/5810	1980/2298	660/765	V	gtG/gtC		1		1	FAM160B1	HGNC	HGNC:29320	protein_coding	YES	CCDS31290.1	ENSP00000358251	Q5W0V3		UPI0000160B10	NM_020940.3			15/17		hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF10																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	50	114860781	114860781	G	C	1	0	0	0	0	0	0	0	1	5319	1364	48	4		4	FAM160B1	10	114860781	Silent	SNP	G	C3N-00547_TP	394995	114860781	18936641	401	15862											
PRLHR	0	.	GRCh38	chr10	118594966	118594966	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgaggaagttcgtcacGttgtgcagccggcgcacccg	7	7	14	13	6	1	1	1	1	0	0	2	3	1	2	3	2	2	4	3	2	1	2			C3N-00547_TP	C3N-00547_NB	G	G																c.279C>T	p.=	p.N93N	ENST00000239032	2/2	114	105	9	148	148	0	strelka-varscan-mutect	PRLHR,synonymous_variant,p.=,ENST00000239032,NM_004248.2;PRLHR,synonymous_variant,p.=,ENST00000636925,;	A	ENST00000239032	Transcript	synonymous_variant	469/5446	279/1113	93/370	N	aaC/aaT	COSM3716698	1		-1	PRLHR	HGNC	HGNC:4464	protein_coding	YES	CCDS7606.1	ENSP00000239032	P49683		UPI000013CA6F	NM_004248.2			2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF194,SMART_domains:SM01381,Superfamily_domains:SSF81321											1						LOW	1	SNV	1		1	1										PASS		rs1301418181	.												A	2	1	50	118594966	118594966	G	A	1	0	0	0	0	0	0	0	1	12662	1136	40	1		1	PRLHR	10	118594966	Silent	SNP	G	C3N-00547_TP	3734185	118594966	15202456	402	15863											
CPXM2	0	.	GRCh38	chr10	123770967	123770967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccacagcatacagcttcaGgccctggtggctttttccaa	8	11	8	14	0	1	0	1	0	0	0	3	0	3	0	3	3	3	3	3	3	2	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1051C>A	p.Leu351Met	p.L351M	ENST00000241305	8/14	124	112	12	187	187	0	strelka-varscan-mutect	CPXM2,missense_variant,p.Leu351Met,ENST00000241305,NM_198148.2;CPXM2,5_prime_UTR_variant,,ENST00000615851,;CPXM2,non_coding_transcript_exon_variant,,ENST00000368854,;	T	ENST00000241305	Transcript	missense_variant	1206/3554	1051/2271	351/756	L/M	Ctg/Atg		1		-1	CPXM2	HGNC	HGNC:26977	protein_coding	YES	CCDS7637.1	ENSP00000241305	Q8N436		UPI00001AE6BE	NM_198148.2	deleterious(0)		8/14		hmmpanther:PTHR11532:SF45,hmmpanther:PTHR11532,Pfam_domain:PF00246,Gene3D:3.40.630.10,Superfamily_domains:SSF53187,Prints_domain:PR00765																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	123770967	123770967	G	T	1	0	0	0	0	1	0	0	0	3636	991	35	2		2	CPXM2	10	123770967	Missense_Mutation	SNP	G	C3N-00547_TP	5176001	123770967	10026455	403	15864											
CFAP46	0	.	GRCh38	chr10	132846085	132846085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggccagcctctgctccAcacgggcgcccaggctggtg	4	5	15	17	4	1	0	0	0	1	0	2	0	2	0	4	5	2	2	4	5	0	0	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.6410T>A	p.Val2137Glu	p.V2137E	ENST00000368586	44/58	122	108	14	172	172	0	strelka-varscan-mutect	CFAP46,missense_variant,p.Val2137Glu,ENST00000368586,NM_001200049.2;	T	ENST00000368586	Transcript	missense_variant	6511/8278	6410/8148	2137/2715	V/E	gTg/gAg		1		-1	CFAP46	HGNC	HGNC:25247	protein_coding	YES	CCDS58101.1	ENSP00000357575	Q8IYW2		UPI0001B79116	NM_001200049.2	deleterious(0)		44/58																			MODERATE	1	SNV	5			1										PASS		rs1049856691	.												T	3	4	50	132846085	132846085	A	T	1	0	0	0	0	1	0	0	0	3021	159	6	4		4	CFAP46	10	132846085	Missense_Mutation	SNP	A	C3N-00547_TP	9075118	132846085	951337	404	15865											
MUC5AC	0	.	GRCh38	chr11	1191037	1191037	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcctggaactactcccAgccctgttcccaccaccagc	7	8	7	19	0	0	0	0	0	0	0	3	1	3	1	6	2	4	1	6	2	2	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.12892A>T	p.Ser4298Cys	p.S4298C	ENST00000621226	31/49	734	691	43	611	611	0	varscan-mutect	MUC5AC,missense_variant,p.Ser4298Cys,ENST00000621226,NM_001304359.1;	T	ENST00000621226	Transcript	missense_variant	12939/17448	12892/16965	4298/5654	S/C	Agc/Tgc		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	deleterious_low_confidence(0.01)		31/49		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	1191037	1191037	A	T	1	0	0	0	0	1	0	0	0	9978	188	7	4		4	MUC5AC	11	1191037	Missense_Mutation	SNP	A	C3N-00547_TP		1191037	133895585	405	15866											
MUC5AC	0	.	GRCh38	chr11	1196430	1196430	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtaccagccctgcggccCgagcaacccctcctactgct	6	7	10	18	2	0	0	0	0	0	0	1	1	1	0	6	2	7	3	6	2	3	2	rs772195066		C3N-00547_TP	C3N-00547_NB	C	C																c.15680C>G	p.Pro5227Arg	p.P5227R	ENST00000621226	38/49	189	121	68	238	238	0	strelka-varscan-mutect	MUC5AC,missense_variant,p.Pro5227Arg,ENST00000621226,NM_001304359.1;	G	ENST00000621226	Transcript	missense_variant	15727/17448	15680/16965	5227/5654	P/R	cCg/cGg	rs772195066	1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	deleterious(0)		38/49		Gene3D:2.10.25.10,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF291,Superfamily_domains:SSF57567																	MODERATE	1	SNV	5			1										PASS		rs772195066	.												G	3	3	50	1196430	1196430	C	G	1	0	0	0	0	1	0	0	0	9978	652	23	4		4	MUC5AC	11	1196430	Missense_Mutation	SNP	C	C3N-00547_TP	5393	1196430	133890192	406	15867											
MUC5B	0	.	GRCh38	chr11	1245796	1245796	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaactacggccactgcccCagcaccccggccaccagctc	8	4	8	21	2	0	0	0	0	0	0	1	0	0	0	7	2	6	3	7	2	2	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.8916C>A	p.=	p.P2972P	ENST00000529681	31/49	260	133	127	251	251	0	strelka-varscan-mutect	MUC5B,synonymous_variant,p.=,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;	A	ENST00000529681	Transcript	synonymous_variant	8974/17911	8916/17289	2972/5762	P	ccC/ccA		1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2			31/49		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	50	1245796	1245796	C	A	1	0	0	0	0	0	0	0	1	9979	581	21	2		2	MUC5B	11	1245796	Silent	SNP	C	C3N-00547_TP	49366	1245796	133840826	407	15868											
TNNI2	0	.	GRCh38	chr11	1840417	1840417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaagcggaacagggcCatcacggcccgcaggcagca	11	2	14	14	3	1	1	1	0	0	1	1	2	1	2	2	4	4	4	2	4	2	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.30C>T	p.=	p.A10A	ENST00000381906	4/8	297	272	25	278	278	0	strelka-varscan-mutect	TNNI2,synonymous_variant,p.=,ENST00000381906,NM_001145829.1;TNNI2,synonymous_variant,p.=,ENST00000381911,NM_003282.3;TNNI2,synonymous_variant,p.=,ENST00000381905,NM_001145841.1;TNNI2,synonymous_variant,p.=,ENST00000617947,;TNNI2,synonymous_variant,p.=,ENST00000252898,;SYT8,downstream_gene_variant,,ENST00000341958,;SYT8,downstream_gene_variant,,ENST00000381968,NM_001290334.1,NM_138567.4;SYT8,downstream_gene_variant,,ENST00000381978,NM_001290332.1,NM_001290333.1;SYT8,downstream_gene_variant,,ENST00000430303,;SYT8,downstream_gene_variant,,ENST00000417052,;SYT8,downstream_gene_variant,,ENST00000483280,;TNNI2,non_coding_transcript_exon_variant,,ENST00000468473,;SYT8,downstream_gene_variant,,ENST00000490707,;SYT8,downstream_gene_variant,,ENST00000479276,;SYT8,downstream_gene_variant,,ENST00000479089,;SYT8,downstream_gene_variant,,ENST00000464897,;SYT8,downstream_gene_variant,,ENST00000424556,;SYT8,downstream_gene_variant,,ENST00000475245,;SYT8,downstream_gene_variant,,ENST00000494431,;SYT8,downstream_gene_variant,,ENST00000482118,;	T	ENST00000381906	Transcript	synonymous_variant	99/745	30/549	10/182	A	gcC/gcT		1		1	TNNI2	HGNC	HGNC:11946	protein_coding	YES	CCDS31333.1	ENSP00000371331	P48788		UPI0000001605	NM_001145829.1			4/8		Gene3D:1.20.5.350,hmmpanther:PTHR13738,hmmpanther:PTHR13738:SF15																	LOW	1	SNV	3			1										PASS		.	.												T	2	4	50	1840417	1840417	C	T	1	0	0	0	0	0	0	0	1	16800	581	21	3		3	TNNI2	11	1840417	Silent	SNP	C	C3N-00547_TP	594621	1840417	133246205	408	15869											
TRPM5	0	.	GRCh38	chr11	2415923	2415923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttccactccacgtcccCattgaagatctcactcttgg	8	11	5	17	1	2	2	1	1	2	1	6	2	5	2	5	1	0	0	5	1	1	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1111G>T	p.Gly371Trp	p.G371W	ENST00000155858	8/24	131	55	76	90	89	1	strelka-varscan-mutect	TRPM5,missense_variant,p.Gly371Trp,ENST00000155858,NM_014555.3;TRPM5,missense_variant,p.Gly365Trp,ENST00000533881,;TRPM5,missense_variant,p.Gly371Trp,ENST00000533060,;TRPM5,missense_variant,p.Gly371Trp,ENST00000528453,;	A	ENST00000155858	Transcript	missense_variant	1120/3929	1111/3498	371/1165	G/W	Ggg/Tgg		1		-1	TRPM5	HGNC	HGNC:14323	protein_coding	YES	CCDS31340.1	ENSP00000155858	Q9NZQ8		UPI000003B069	NM_014555.3	deleterious(0)		8/24		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	2415923	2415923	C	A	1	0	0	0	0	1	0	0	0	17095	594	21	2		2	TRPM5	11	2415923	Missense_Mutation	SNP	C	C3N-00547_TP	575506	2415923	132670699	409	15870											
OR52E8	0	.	GRCh38	chr11	5857683	5857683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaactgggtgtgattagacGtagacattcttcctgccata	10	12	11	8	1	1	3	0	1	1	2	2	4	2	4	2	2	2	1	2	2	4	5	rs760316487		C3N-00547_TP	C3N-00547_NB	G	G																c.20C>G	p.Thr7Arg	p.T7R	ENST00000537935	1/1	70	66	4	57	57	0	strelka-mutect	OR52E8,missense_variant,p.Thr7Arg,ENST00000537935,NM_001005168.1;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	C	ENST00000537935	Transcript	missense_variant	52/1061	20/954	7/317	T/R	aCg/aGg	rs760316487	1		-1	OR52E8	HGNC	HGNC:15217	protein_coding	YES	CCDS31400.1	ENSP00000444054	Q6IFG1	A0A126GVH0	UPI000004B211	NM_001005168.1	tolerated(0.35)		1/1		hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF170,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs760316487	.												C	3	2	50	5857683	5857683	G	C	1	0	0	0	0	1	0	0	0	11191	1145	40	4		4	OR52E8	11	5857683	Missense_Mutation	SNP	G	C3N-00547_TP	3441760	5857683	129228939	410	15871											
TRIM3	0	.	GRCh38	chr11	6457795	6457795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacgatgctccccggcgCggcactcaccacacatggcc	7	5	10	19	4	2	0	2	0	0	0	3	1	3	0	4	3	1	3	4	3	0	0			C3N-00547_TP	C3N-00547_NB	C	C																c.416G>T	p.Arg139Leu	p.R139L	ENST00000525074	4/12	146	87	59	128	128	0	strelka-varscan-mutect	TRIM3,missense_variant,p.Arg139Leu,ENST00000525074,NM_001248006.1;TRIM3,missense_variant,p.Arg139Leu,ENST00000359518,NM_006458.3;TRIM3,missense_variant,p.Arg139Leu,ENST00000345851,NM_033278.3;TRIM3,missense_variant,p.Arg20Leu,ENST00000536344,NM_001248007.1;TRIM3,missense_variant,p.Arg139Leu,ENST00000528227,;TRIM3,downstream_gene_variant,,ENST00000529529,;TRIM3,non_coding_transcript_exon_variant,,ENST00000528932,;TRIM3,upstream_gene_variant,,ENST00000529058,;TRIM3,upstream_gene_variant,,ENST00000526845,;TRIM3,upstream_gene_variant,,ENST00000527237,;TRIM3,upstream_gene_variant,,ENST00000532542,;	A	ENST00000525074	Transcript	missense_variant	811/3044	416/2235	139/744	R/L	cGc/cTc	COSM5126475	1		-1	TRIM3	HGNC	HGNC:10064	protein_coding	YES	CCDS7764.1	ENSP00000433102	O75382		UPI000013C8BA	NM_001248006.1	tolerated(0.15)		4/12		PROSITE_profiles:PS50119,hmmpanther:PTHR24103:SF1,hmmpanther:PTHR24103,Pfam_domain:PF00643,Gene3D:1freA00,SMART_domains:SM00336,Superfamily_domains:SSF57845											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	50	6457795	6457795	C	A	1	0	0	0	0	1	0	0	0	16993	768	27	1		1	TRIM3	11	6457795	Missense_Mutation	SNP	C	C3N-00547_TP	600112	6457795	128628827	411	15872											
DCHS1	0	.	GRCh38	chr11	6627431	6627431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagcagggtccctgCaggcacatcctccggcacct	7	6	11	17	1	0	0	0	0	0	0	3	0	3	0	4	3	4	6	4	3	0	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.5608G>T	p.Ala1870Ser	p.A1870S	ENST00000299441	14/21	319	153	166	268	268	0	strelka-varscan-mutect	DCHS1,missense_variant,p.Ala1870Ser,ENST00000299441,NM_003737.3;RP11-732A19.6,upstream_gene_variant,,ENST00000526633,;	A	ENST00000299441	Transcript	missense_variant	6020/10765	5608/9897	1870/3298	A/S	Gca/Tca		1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3	tolerated(0.13)		14/21		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF335,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	6627431	6627431	C	A	1	0	0	0	0	1	0	0	0	4090	710	25	2		2	DCHS1	11	6627431	Missense_Mutation	SNP	C	C3N-00547_TP	169636	6627431	128459191	412	15873											
DCHS1	0	.	GRCh38	chr11	6641406	6641406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagaggagctgccgtgcctgCcggaagccccgcactgatgt	7	6	15	13	3	0	2	0	1	0	1	0	5	0	4	5	2	5	2	5	2	1	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.208G>T	p.Ala70Ser	p.A70S	ENST00000299441	2/21	190	97	93	151	151	0	strelka-varscan-mutect	DCHS1,missense_variant,p.Ala70Ser,ENST00000299441,NM_003737.3;	A	ENST00000299441	Transcript	missense_variant	620/10765	208/9897	70/3298	A/S	Gca/Tca		1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3	tolerated(0.14)		2/21		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	6641406	6641406	C	A	1	0	0	0	0	1	0	0	0	4090	739	26	2		2	DCHS1	11	6641406	Missense_Mutation	SNP	C	C3N-00547_TP	13975	6641406	128445216	413	15874											
FAR1	0	.	GRCh38	chr11	13710699	13710699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttctttaccaggtggatGgatgatggcctagtaaatga	12	13	11	5	0	1	2	0	2	1	0	1	4	1	4	2	4	1	1	2	4	5	5	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.552G>T	p.Met184Ile	p.M184I	ENST00000354817	5/12	98	49	49	129	129	0	strelka-varscan-mutect	FAR1,missense_variant,p.Met184Ile,ENST00000354817,NM_032228.5;FAR1,missense_variant,p.Met184Ile,ENST00000532701,;FAR1,upstream_gene_variant,,ENST00000527202,;FAR1,non_coding_transcript_exon_variant,,ENST00000524933,;	T	ENST00000354817	Transcript	missense_variant	696/5264	552/1548	184/515	M/I	atG/atT		1		1	FAR1	HGNC	HGNC:26222	protein_coding	YES	CCDS7813.1	ENSP00000346874	Q8WVX9		UPI00000477EF	NM_032228.5	deleterious(0.03)		5/12		hmmpanther:PTHR11011:SF31,hmmpanther:PTHR11011,Pfam_domain:PF07993																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	13710699	13710699	G	T	1	0	0	0	0	1	0	0	0	5534	1348	47	2		2	FAR1	11	13710699	Missense_Mutation	SNP	G	C3N-00547_TP	7069293	13710699	121375923	414	15875											
SOX6	0	.	GRCh38	chr11	16341089	16341089	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacaagtgttggtagctcctCagagtgaggtttgttgtgca	8	13	14	6	0	1	2	1	1	0	1	2	3	2	2	1	2	2	6	1	2	2	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.160G>C	p.Glu54Gln	p.E54Q	ENST00000396356	2/16	270	203	67	277	277	0	strelka-varscan-mutect	SOX6,missense_variant,p.Glu54Gln,ENST00000396356,NM_033326.3;SOX6,missense_variant,p.Glu54Gln,ENST00000316399,;SOX6,missense_variant,p.Glu54Gln,ENST00000528252,NM_001145811.1;SOX6,missense_variant,p.Glu57Gln,ENST00000527619,NM_017508.2;SOX6,missense_variant,p.Glu54Gln,ENST00000528429,NM_001145819.1;SOX6,missense_variant,p.Glu54Gln,ENST00000533411,;SOX6,missense_variant,p.Glu54Gln,ENST00000529469,;SOX6,missense_variant,p.Glu54Gln,ENST00000526673,;SOX6,non_coding_transcript_exon_variant,,ENST00000533658,;SOX6,missense_variant,p.Glu54Gln,ENST00000530378,;SOX6,non_coding_transcript_exon_variant,,ENST00000533870,;	G	ENST00000396356	Transcript	missense_variant	238/8865	160/2427	54/808	E/Q	Gag/Cag		1		-1	SOX6	HGNC	HGNC:16421	protein_coding	YES	CCDS7821.1	ENSP00000379644	P35712		UPI00001F9DE4	NM_033326.3	deleterious_low_confidence(0.01)		2/16																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	16341089	16341089	C	G	1	0	0	0	0	1	0	0	0	15281	835	29	4		4	SOX6	11	16341089	Missense_Mutation	SNP	C	C3N-00547_TP	2630390	16341089	118745533	415	15876											
OTOG	0	.	GRCh38	chr11	17547377	17547377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcccctcgtgtccctatggGagtcctggcgtctgcgctct	2	12	12	15	3	2	0	0	0	2	0	6	1	5	1	4	2	1	1	4	2	1	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.5G>T	p.Gly2Val	p.G2V	ENST00000399391	1/55	26	16	10	33	33	0	strelka-varscan-mutect	OTOG,missense_variant,p.Gly2Val,ENST00000399397,NM_001292063.1;OTOG,missense_variant,p.Gly2Val,ENST00000399391,NM_001277269.1;USH1C,upstream_gene_variant,,ENST00000005226,NM_153676.3;USH1C,upstream_gene_variant,,ENST00000318024,NM_005709.3;USH1C,upstream_gene_variant,,ENST00000527020,NM_001297764.1;OTOG,upstream_gene_variant,,ENST00000428619,;USH1C,upstream_gene_variant,,ENST00000526313,;OTOG,upstream_gene_variant,,ENST00000498332,;	T	ENST00000399391	Transcript	missense_variant	5/8778	5/8778	2/2925	G/V	gGa/gTa		1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1	deleterious_low_confidence(0)		1/55		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	17547377	17547377	G	T	1	0	0	0	0	1	0	0	0	11370	1188	41	2		2	OTOG	11	17547377	Missense_Mutation	SNP	G	C3N-00547_TP	1206288	17547377	117539245	416	15877											
OTOG	0	.	GRCh38	chr11	17610668	17610668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacacccttcatgtccCttgagtcaactcgtccctcc	7	10	5	19	1	2	1	2	1	0	0	6	1	5	1	5	0	2	0	5	0	1	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.5404C>A	p.Leu1802Ile	p.L1802I	ENST00000399391	35/55	271	160	111	249	249	0	strelka-varscan-mutect	OTOG,missense_variant,p.Leu1790Ile,ENST00000399397,NM_001292063.1;OTOG,missense_variant,p.Leu1802Ile,ENST00000399391,NM_001277269.1;OTOG,missense_variant,p.Leu808Ile,ENST00000342528,;	A	ENST00000399391	Transcript	missense_variant	5404/8778	5404/8778	1802/2925	L/I	Ctt/Att		1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1	tolerated(0.41)		35/55																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	17610668	17610668	C	A	1	0	0	0	0	1	0	0	0	11370	681	24	2		2	OTOG	11	17610668	Missense_Mutation	SNP	C	C3N-00547_TP	63291	17610668	117475954	417	15878											
PTPN5	0	.	GRCh38	chr11	18765834	18765834	+	Missense_Mutation	SNP	C	C	T																															cctctcactgcagcacatgtCcagggcccctccctcggagt																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.70G>A	p.Asp24Asn	p.D24N	ENST00000358540	3/15	403	354	49	331	331	0	strelka-varscan-mutect	PTPN5,missense_variant,p.Asp24Asn,ENST00000396170,NM_001039970.1,NM_001278236.1;PTPN5,missense_variant,p.Asp24Asn,ENST00000358540,NM_032781.3,NM_006906.1;PTPN5,5_prime_UTR_variant,,ENST00000396168,NM_001278238.1,NM_001278239.1;	T	ENST00000358540	Transcript	missense_variant	501/3135	70/1698	24/565	D/N	Gac/Aac		1		-1	PTPN5	HGNC	HGNC:9657	protein_coding	YES	CCDS7845.1	ENSP00000351342	P54829		UPI00001AE663	NM_032781.3,NM_006906.1	deleterious_low_confidence(0.01)		3/15																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	18765834	18765834	C	T	1	0	0	0	0	1	0	0	0	12945	855	30	3		3	PTPN5	11	18765834	Missense_Mutation	SNP	C	C3N-00547_TP	1155166	18765834	116320788	418	15879	340	2									
PTPN5	0	.	GRCh38	chr11	18765836	18765836	+	Missense_Mutation	SNP	A	A	G																															tctcactgcagcacatgtccAgggcccctccctcggagtca																								novel		C3N-00547_TP	C3N-00547_NB	A	A																c.68T>C	p.Leu23Pro	p.L23P	ENST00000358540	3/15	413	365	48	332	332	0	strelka-varscan-mutect	PTPN5,missense_variant,p.Leu23Pro,ENST00000396170,NM_001039970.1,NM_001278236.1;PTPN5,missense_variant,p.Leu23Pro,ENST00000358540,NM_032781.3,NM_006906.1;PTPN5,5_prime_UTR_variant,,ENST00000396168,NM_001278238.1,NM_001278239.1;	G	ENST00000358540	Transcript	missense_variant	499/3135	68/1698	23/565	L/P	cTg/cCg		1		-1	PTPN5	HGNC	HGNC:9657	protein_coding	YES	CCDS7845.1	ENSP00000351342	P54829		UPI00001AE663	NM_032781.3,NM_006906.1	tolerated_low_confidence(0.11)		3/15																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	18765836	18765836	A	G	1	0	0	0	0	1	0	0	0	12945	188	7	5		5	PTPN5	11	18765836	Missense_Mutation	SNP	A	C3N-00547_TP	2	18765836	116320786	419	15880	340	2									
MRGPRX1	0	.	GRCh38	chr11	18934646	18934646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccaggagccagagcacaaCtgcgtttcctgtcagcccga	9	6	11	15	2	1	1	1	0	0	1	2	3	2	2	4	1	5	2	4	1	1	1	rs371238052		C3N-00547_TP	C3N-00547_NB	C	C																c.139G>T	p.Val47Phe	p.V47F	ENST00000302797	1/1	127	75	52	146	146	0	strelka-varscan-mutect	MRGPRX1,missense_variant,p.Val47Phe,ENST00000302797,NM_147199.3;RP11-583F24.8,upstream_gene_variant,,ENST00000528646,;MRGPRX1,non_coding_transcript_exon_variant,,ENST00000526914,;	A	ENST00000302797	Transcript	missense_variant	357/1190	139/969	47/322	V/F	Gtt/Ttt	rs371238052	1		-1	MRGPRX1	HGNC	HGNC:17962	protein_coding	YES	CCDS7846.1	ENSP00000305766	Q96LB2	W8W3P5	UPI000003BCCF	NM_147199.3	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF22,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		rs371238052	.												A	3	1	50	18934646	18934646	C	A	1	0	0	0	0	1	0	0	0	9733	565	20	2		2	MRGPRX1	11	18934646	Missense_Mutation	SNP	C	C3N-00547_TP	168810	18934646	116151976	420	15881											
NAV2	0	.	GRCh38	chr11	20044225	20044225	+	Missense_Mutation	SNP	G	G	T																															ggtgggcatcaccatgccaaGgacgaagccttcagccccgg																										C3N-00547_TP	C3N-00547_NB	G	G																c.3221G>T	p.Arg1074Met	p.R1074M	ENST00000396087	14/41	223	191	32	172	172	0	strelka-varscan-mutect	NAV2,missense_variant,p.Arg1074Met,ENST00000527559,;NAV2,missense_variant,p.Arg1051Met,ENST00000540292,;NAV2,missense_variant,p.Arg1051Met,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.Arg1051Met,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.Arg987Met,ENST00000360655,NM_001111018.1;NAV2,missense_variant,p.Arg1074Met,ENST00000396087,NM_001244963.1;NAV2,missense_variant,p.Arg137Met,ENST00000533917,NM_001111019.2;NAV2,missense_variant,p.Arg137Met,ENST00000525322,;NAV2,missense_variant,p.Arg137Met,ENST00000530408,;NAV2-AS2,non_coding_transcript_exon_variant,,ENST00000533767,;NAV2,non_coding_transcript_exon_variant,,ENST00000534299,;NAV2,non_coding_transcript_exon_variant,,ENST00000526675,;	T	ENST00000396087	Transcript	missense_variant	3320/7882	3221/7467	1074/2488	R/M	aGg/aTg	COSM3446200	1		1	NAV2	HGNC	HGNC:15997	protein_coding	YES	CCDS58126.1	ENSP00000379396	Q8IVL1		UPI00001E0580	NM_001244963.1	tolerated(0.08)		14/41		hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784											1						MODERATE		SNV	5		1	1										PASS		.	.												T	3	4	50	20044225	20044225	G	T	1	0	0	0	0	1	0	0	0	10193	1000	35	2		2	NAV2	11	20044225	Missense_Mutation	SNP	G	C3N-00547_TP	1109579	20044225	115042397	421	15882	341	2									
NAV2	0	.	GRCh38	chr11	20044226	20044226	+	Missense_Mutation	SNP	G	G	T																															gtgggcatcaccatgccaagGacgaagccttcagccccggc																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.3222G>T	p.Arg1074Ser	p.R1074S	ENST00000396087	14/41	216	184	32	168	168	0	strelka-varscan-mutect	NAV2,missense_variant,p.Arg1074Ser,ENST00000527559,;NAV2,missense_variant,p.Arg1051Ser,ENST00000540292,;NAV2,missense_variant,p.Arg1051Ser,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.Arg1051Ser,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.Arg987Ser,ENST00000360655,NM_001111018.1;NAV2,missense_variant,p.Arg1074Ser,ENST00000396087,NM_001244963.1;NAV2,missense_variant,p.Arg137Ser,ENST00000533917,NM_001111019.2;NAV2,missense_variant,p.Arg137Ser,ENST00000525322,;NAV2,missense_variant,p.Arg137Ser,ENST00000530408,;NAV2-AS2,non_coding_transcript_exon_variant,,ENST00000533767,;NAV2,non_coding_transcript_exon_variant,,ENST00000534299,;NAV2,non_coding_transcript_exon_variant,,ENST00000526675,;	T	ENST00000396087	Transcript	missense_variant	3321/7882	3222/7467	1074/2488	R/S	agG/agT		1		1	NAV2	HGNC	HGNC:15997	protein_coding	YES	CCDS58126.1	ENSP00000379396	Q8IVL1		UPI00001E0580	NM_001244963.1	tolerated(0.08)		14/41		hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	50	20044226	20044226	G	T	1	0	0	0	0	1	0	0	0	10193	1165	41	2		2	NAV2	11	20044226	Missense_Mutation	SNP	G	C3N-00547_TP	1	20044226	115042396	422	15883	341	2									
PRMT3	0	.	GRCh38	chr11	20407921	20407921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaccctaggtagttttggAtgttgggtgtggaactggaa	9	14	14	4	0	0	0	0	0	0	0	0	3	0	3	1	5	2	3	1	5	5	6	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.782A>G	p.Asp261Gly	p.D261G	ENST00000331079	9/16	197	184	13	172	172	0	strelka-varscan-mutect	PRMT3,missense_variant,p.Asp261Gly,ENST00000331079,NM_001145167.1,NM_005788.3;PRMT3,missense_variant,p.Asp199Gly,ENST00000437750,NM_001145166.1;PRMT3,3_prime_UTR_variant,,ENST00000330796,;PRMT3,non_coding_transcript_exon_variant,,ENST00000529592,;	G	ENST00000331079	Transcript	missense_variant	999/2653	782/1596	261/531	D/G	gAt/gGt		1		1	PRMT3	HGNC	HGNC:30163	protein_coding	YES	CCDS7853.1	ENSP00000331879	O60678		UPI0000232A2C	NM_001145167.1,NM_005788.3	tolerated(0.05)		9/16		PROSITE_profiles:PS51678,hmmpanther:PTHR11006:SF53,hmmpanther:PTHR11006,Pfam_domain:PF06325,Gene3D:3.40.50.150,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	20407921	20407921	A	G	1	0	0	0	0	1	0	0	0	12669	333	12	5		5	PRMT3	11	20407921	Missense_Mutation	SNP	A	C3N-00547_TP	363695	20407921	114678701	423	15884											
SLC6A5	0	.	GRCh38	chr11	20601219	20601219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acccggatggcccatgcgctCccaggacgagcccggagcag	8	3	14	16	4	0	0	0	0	0	0	1	4	1	3	4	4	3	2	4	4	0	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.94C>A	p.Pro32Thr	p.P32T	ENST00000525748	2/16	144	110	34	158	157	1	strelka-varscan-mutect	SLC6A5,missense_variant,p.Pro32Thr,ENST00000525748,NM_004211.3;SLC6A5,missense_variant,p.Pro32Thr,ENST00000298923,;	A	ENST00000525748	Transcript	missense_variant	367/7084	94/2394	32/797	P/T	Ccc/Acc		1		1	SLC6A5	HGNC	HGNC:11051	protein_coding	YES	CCDS7854.1	ENSP00000434364	Q9Y345		UPI00004564A5	NM_004211.3	tolerated_low_confidence(0.61)		2/16																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	20601219	20601219	C	A	1	0	0	0	0	1	0	0	0	14970	855	30	2		2	SLC6A5	11	20601219	Missense_Mutation	SNP	C	C3N-00547_TP	193298	20601219	114485403	424	15885											
BDNF	0	.	GRCh38	chr11	27657918	27657918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctatccatggtaagggccCgcacgtacgactgggtagtt	8	10	13	10	3	0	0	0	0	0	0	1	1	1	0	2	3	2	6	2	3	4	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.893G>A	p.Arg298Gln	p.R298Q	ENST00000438929	3/3	561	488	73	443	442	1	strelka-varscan-mutect	BDNF,missense_variant,p.Arg216Gln,ENST00000525528,NM_170735.5;BDNF,missense_variant,p.Arg216Gln,ENST00000439476,NM_001143816.1;BDNF,missense_variant,p.Arg224Gln,ENST00000314915,NM_170731.4;BDNF,missense_variant,p.Arg216Gln,ENST00000420794,NM_001143811.1;BDNF,missense_variant,p.Arg216Gln,ENST00000418212,NM_001143814.1;BDNF,missense_variant,p.Arg216Gln,ENST00000395981,NM_170732.4;BDNF,missense_variant,p.Arg298Gln,ENST00000438929,NM_001143810.1;BDNF,missense_variant,p.Arg216Gln,ENST00000395980,NM_170733.3;BDNF,missense_variant,p.Arg216Gln,ENST00000356660,NM_001709.4;BDNF,missense_variant,p.Arg216Gln,ENST00000533246,NM_001143813.1;BDNF,missense_variant,p.Arg216Gln,ENST00000395978,NM_001143806.1;BDNF,missense_variant,p.Arg231Gln,ENST00000395986,NM_170734.3;BDNF,missense_variant,p.Arg216Gln,ENST00000532997,NM_001143807.1;BDNF,missense_variant,p.Arg216Gln,ENST00000530861,NM_001143812.1;BDNF,missense_variant,p.Arg216Gln,ENST00000533131,;BDNF,missense_variant,p.Arg216Gln,ENST00000525950,NM_001143805.1;BDNF,missense_variant,p.Arg216Gln,ENST00000395983,NM_001143809.1,NM_001143808.1;BDNF-AS,intron_variant,,ENST00000499008,;BDNF-AS,intron_variant,,ENST00000499568,;BDNF-AS,intron_variant,,ENST00000501176,;BDNF-AS,intron_variant,,ENST00000500662,;BDNF-AS,intron_variant,,ENST00000502161,;BDNF-AS,intron_variant,,ENST00000530686,;BDNF-AS,intron_variant,,ENST00000530313,;BDNF-AS,intron_variant,,ENST00000532965,;BDNF,non_coding_transcript_exon_variant,,ENST00000584049,;BDNF,3_prime_UTR_variant,,ENST00000530786,;	T	ENST00000438929	Transcript	missense_variant	1034/4059	893/990	298/329	R/Q	cGg/cAg		1		-1	BDNF	HGNC	HGNC:1033	protein_coding	YES	CCDS44558.1	ENSP00000414303	P23560		UPI0001594492	NM_001143810.1	deleterious(0)		3/3		Gene3D:2.10.90.10,PD002052,Pfam_domain:PF00243,Prints_domain:PR00268,PROSITE_profiles:PS50270,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF3,SMART_domains:SM00140,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	27657918	27657918	C	T	1	0	0	0	0	1	0	0	0	1541	652	23	1		1	BDNF	11	27657918	Missense_Mutation	SNP	C	C3N-00547_TP	7056699	27657918	107428704	425	15886											
BDNF	0	.	GRCh38	chr11	27658081	27658081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggactgtgaccgtccCgcccgacatgtccactgcag	8	8	10	15	3	1	1	1	1	0	0	3	3	3	2	4	1	1	1	4	1	1	1			C3N-00547_TP	C3N-00547_NB	C	C																c.730G>A	p.Gly244Arg	p.G244R	ENST00000438929	3/3	484	391	93	413	413	0	strelka-varscan-mutect	BDNF,missense_variant,p.Gly162Arg,ENST00000525528,NM_170735.5;BDNF,missense_variant,p.Gly162Arg,ENST00000439476,NM_001143816.1;BDNF,missense_variant,p.Gly170Arg,ENST00000314915,NM_170731.4;BDNF,missense_variant,p.Gly162Arg,ENST00000420794,NM_001143811.1;BDNF,missense_variant,p.Gly162Arg,ENST00000418212,NM_001143814.1;BDNF,missense_variant,p.Gly162Arg,ENST00000395981,NM_170732.4;BDNF,missense_variant,p.Gly244Arg,ENST00000438929,NM_001143810.1;BDNF,missense_variant,p.Gly162Arg,ENST00000395980,NM_170733.3;BDNF,missense_variant,p.Gly162Arg,ENST00000356660,NM_001709.4;BDNF,missense_variant,p.Gly162Arg,ENST00000533246,NM_001143813.1;BDNF,missense_variant,p.Gly162Arg,ENST00000395978,NM_001143806.1;BDNF,missense_variant,p.Gly177Arg,ENST00000395986,NM_170734.3;BDNF,missense_variant,p.Gly162Arg,ENST00000532997,NM_001143807.1;BDNF,missense_variant,p.Gly162Arg,ENST00000530861,NM_001143812.1;BDNF,missense_variant,p.Gly162Arg,ENST00000533131,;BDNF,missense_variant,p.Gly162Arg,ENST00000525950,NM_001143805.1;BDNF,missense_variant,p.Gly162Arg,ENST00000395983,NM_001143809.1,NM_001143808.1;BDNF-AS,intron_variant,,ENST00000499008,;BDNF-AS,intron_variant,,ENST00000499568,;BDNF-AS,intron_variant,,ENST00000501176,;BDNF-AS,intron_variant,,ENST00000500662,;BDNF-AS,intron_variant,,ENST00000502161,;BDNF-AS,intron_variant,,ENST00000530686,;BDNF-AS,intron_variant,,ENST00000530313,;BDNF-AS,intron_variant,,ENST00000532965,;BDNF,non_coding_transcript_exon_variant,,ENST00000584049,;BDNF,3_prime_UTR_variant,,ENST00000530786,;	T	ENST00000438929	Transcript	missense_variant	871/4059	730/990	244/329	G/R	Ggg/Agg	COSM1246067,COSM1246068	1		-1	BDNF	HGNC	HGNC:1033	protein_coding	YES	CCDS44558.1	ENSP00000414303	P23560		UPI0001594492	NM_001143810.1	tolerated(0.48)		3/3		Gene3D:2.10.90.10,PD002052,Pfam_domain:PF00243,PROSITE_profiles:PS50270,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF3,SMART_domains:SM00140,Superfamily_domains:SSF57501											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	50	27658081	27658081	C	T	1	0	0	0	0	1	0	0	0	1541	652	23	1		1	BDNF	11	27658081	Missense_Mutation	SNP	C	C3N-00547_TP	163	27658081	107428541	426	15887											
DCDC1	0	.	GRCh38	chr11	30911407	30911407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaggtcagggttactcaCaaggtgaaaggtccttggga	12	8	13	8	0	2	1	2	1	0	0	3	2	3	2	1	5	1	1	1	5	4	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.988G>T	p.Val330Leu	p.V330L	ENST00000406071	9/20	256	217	39	180	180	0	strelka-varscan-mutect	DCDC1,missense_variant,p.Val1223Leu,ENST00000597505,;DCDC1,missense_variant,p.Val330Leu,ENST00000406071,NM_020869.3;DCDC1,missense_variant,p.Val258Leu,ENST00000444572,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;DCDC1,upstream_gene_variant,,ENST00000303697,;DCDC1,upstream_gene_variant,,ENST00000429306,;	A	ENST00000406071	Transcript	missense_variant	1304/4758	988/2673	330/890	V/L	Gtg/Ttg		1		-1	DCDC1	HGNC	HGNC:20625	protein_coding	YES	CCDS73270.1	ENSP00000385936		B6ZDN3	UPI0001FB41A5	NM_020869.3	tolerated(0.18)		9/20		PROSITE_profiles:PS50231,hmmpanther:PTHR14958:SF27,hmmpanther:PTHR14958,Gene3D:2.80.10.50,Superfamily_domains:SSF50370																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	30911407	30911407	C	A	1	0	0	0	0	1	0	0	0	4086	478	17	2		2	DCDC1	11	30911407	Missense_Mutation	SNP	C	C3N-00547_TP	3253326	30911407	104175215	427	15888											
PAX6	0	.	GRCh38	chr11	31801612	31801612	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcggacagtaatctgtctcgGatttcccaagcaaagatgga	12	10	10	9	2	2	1	0	0	2	1	5	4	3	4	1	3	1	2	1	3	3	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.348C>A	p.=	p.I116I	ENST00000419022	7/14	748	619	129	620	619	1	strelka-varscan-mutect	PAX6,synonymous_variant,p.=,ENST00000419022,NM_001310158.1,NM_001310161.1,NM_001258462.1;PAX6,synonymous_variant,p.=,ENST00000606377,NM_001310161.1,NM_001258463.1;PAX6,synonymous_variant,p.=,ENST00000379129,;PAX6,synonymous_variant,p.=,ENST00000379107,;PAX6,synonymous_variant,p.=,ENST00000379132,NM_001127612.1;PAX6,synonymous_variant,p.=,ENST00000379123,NM_001258464.1,NM_000280.4;PAX6,synonymous_variant,p.=,ENST00000379109,;PAX6,synonymous_variant,p.=,ENST00000379115,NM_001604.5;PAX6,synonymous_variant,p.=,ENST00000241001,;PAX6,synonymous_variant,p.=,ENST00000379111,NM_001258465.1;PAX6,intron_variant,,ENST00000455099,;PAX6,downstream_gene_variant,,ENST00000525535,;PAX6,downstream_gene_variant,,ENST00000524853,;PAX6,downstream_gene_variant,,ENST00000423822,;PAX6,downstream_gene_variant,,ENST00000438681,;PAX6,non_coding_transcript_exon_variant,,ENST00000471303,;PAX6,non_coding_transcript_exon_variant,,ENST00000481563,;PAX6,non_coding_transcript_exon_variant,,ENST00000534353,;PAX6,downstream_gene_variant,,ENST00000533156,;PAX6,upstream_gene_variant,,ENST00000531910,;PAX6,upstream_gene_variant,,ENST00000530373,;PAX6,downstream_gene_variant,,ENST00000530714,;PAX6,non_coding_transcript_exon_variant,,ENST00000533333,;PAX6,non_coding_transcript_exon_variant,,ENST00000470027,;PAX6,non_coding_transcript_exon_variant,,ENST00000494377,;PAX6,non_coding_transcript_exon_variant,,ENST00000534390,;PAX6,intron_variant,,ENST00000464174,;PAX6,downstream_gene_variant,,ENST00000532175,;PAX6,downstream_gene_variant,,ENST00000527769,;	T	ENST00000419022	Transcript	synonymous_variant	817/6922	348/1311	116/436	I	atC/atA		1		-1	PAX6	HGNC	HGNC:8620	protein_coding	YES	CCDS31452.1	ENSP00000404100	P26367	F1T0F8	UPI000002B0A0	NM_001310158.1,NM_001310161.1,NM_001258462.1			7/14		Gene3D:1.10.10.10,Pfam_domain:PF00292,PROSITE_profiles:PS51057,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF294,SMART_domains:SM00351,Superfamily_domains:SSF46689																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	31801612	31801612	G	T	1	0	0	0	0	0	0	0	1	11568	1164	41	2		2	PAX6	11	31801612	Silent	SNP	G	C3N-00547_TP	890205	31801612	103285010	428	15889											
LRRC4C	0	.	GRCh38	chr11	40114701	40114701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgatggccacaaaacacCcaatgatgattttggtagtc	12	11	10	8	0	0	3	0	3	0	0	1	3	0	3	2	2	1	1	2	2	4	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1592G>T	p.Gly531Val	p.G531V	ENST00000278198	2/2	221	103	118	231	231	0	strelka-varscan-mutect	LRRC4C,missense_variant,p.Gly531Val,ENST00000278198,;LRRC4C,missense_variant,p.Gly531Val,ENST00000527150,;LRRC4C,missense_variant,p.Gly531Val,ENST00000530763,NM_020929.2;LRRC4C,missense_variant,p.Gly531Val,ENST00000528697,NM_001258419.1;LRRC4C,missense_variant,p.Gly531Val,ENST00000619527,;LRRC4C,downstream_gene_variant,,ENST00000533474,;RP11-454H19.2,upstream_gene_variant,,ENST00000624239,;	A	ENST00000278198	Transcript	missense_variant	3556/4054	1592/1923	531/640	G/V	gGg/gTg		1		-1	LRRC4C	HGNC	HGNC:29317	protein_coding	YES	CCDS31464.1	ENSP00000278198	Q9HCJ2		UPI000000D9A7		deleterious(0)		2/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	40114701	40114701	C	A	1	0	0	0	0	1	0	0	0	8903	623	22	2		2	LRRC4C	11	40114701	Missense_Mutation	SNP	C	C3N-00547_TP	8313089	40114701	94971921	429	15890											
EXT2	0	.	GRCh38	chr11	44206821	44206821	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccaaaatccgggttccAttaaaagttgtgaggactgc	11	10	11	9	1	0	1	0	1	0	0	2	2	2	2	3	3	1	2	3	3	4	3	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1623A>C	p.=	p.P541P	ENST00000395673	10/14	337	272	65	304	304	0	strelka-varscan-mutect	EXT2,synonymous_variant,p.=,ENST00000395673,NM_000401.3;EXT2,synonymous_variant,p.=,ENST00000343631,;EXT2,synonymous_variant,p.=,ENST00000533608,NM_207122.1;EXT2,synonymous_variant,p.=,ENST00000358681,NM_001178083.1;EXT2,non_coding_transcript_exon_variant,,ENST00000531161,;EXT2,upstream_gene_variant,,ENST00000528159,;	C	ENST00000395673	Transcript	synonymous_variant	1679/3454	1623/2256	541/751	P	ccA/ccC		1		1	EXT2	HGNC	HGNC:3513	protein_coding	YES	CCDS53618.1	ENSP00000379032	Q93063		UPI0000EE3A5C	NM_000401.3			10/14		Gene3D:3.90.550.10,Pfam_domain:PF09258,Superfamily_domains:SSF53448																	LOW	1	SNV	1			1										PASS		rs1170535092	.												C	2	2	50	44206821	44206821	A	C	1	0	0	0	0	0	0	0	1	5192	204	8	5		5	EXT2	11	44206821	Silent	SNP	A	C3N-00547_TP	4092120	44206821	90879801	430	15891											
MYBPC3	0	.	GRCh38	chr11	47332671	47332671	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggcctcggagaagtccagGgccttatagttgggtggctc	6	9	17	9	1	0	1	0	0	0	1	3	2	1	1	3	6	0	2	3	6	3	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.3522C>A	p.=	p.A1174A	ENST00000545968	32/35	162	98	64	142	142	0	strelka-varscan-mutect	MYBPC3,synonymous_variant,p.=,ENST00000545968,NM_000256.3;MYBPC3,synonymous_variant,p.=,ENST00000256993,;MYBPC3,synonymous_variant,p.=,ENST00000399249,;MADD,downstream_gene_variant,,ENST00000342922,NM_130470.2;MADD,downstream_gene_variant,,ENST00000311027,NM_003682.3;MADD,downstream_gene_variant,,ENST00000395336,NM_130475.2;MADD,downstream_gene_variant,,ENST00000349238,NM_130473.2;MADD,downstream_gene_variant,,ENST00000402192,NM_130476.2;MADD,downstream_gene_variant,,ENST00000407859,NM_130471.2;MADD,downstream_gene_variant,,ENST00000402799,NM_130472.2,NM_001135943.1;MADD,downstream_gene_variant,,ENST00000406482,NM_130474.2;MADD,downstream_gene_variant,,ENST00000395344,NM_001135944.1;MADD,downstream_gene_variant,,ENST00000634938,;MYBPC3,downstream_gene_variant,,ENST00000544791,;MADD,downstream_gene_variant,,ENST00000469699,;	T	ENST00000545968	Transcript	synonymous_variant	3577/4226	3522/3825	1174/1274	A	gcC/gcA		1		-1	MYBPC3	HGNC	HGNC:7551	protein_coding	YES	CCDS53621.1	ENSP00000442795	Q14896		UPI000006EEAA	NM_000256.3			32/35																			LOW		SNV	5			1										PASS		.	.												T	2	4	50	47332671	47332671	G	T	1	0	0	0	0	0	0	0	1	10013	1219	43	2		2	MYBPC3	11	47332671	Silent	SNP	G	C3N-00547_TP	3125850	47332671	87753951	431	15892											
FOLH1	0	.	GRCh38	chr11	49185783	49185783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggataggacttcacccCaggagcaaagtagtcagcag	13	7	11	10	0	3	0	2	0	1	0	3	3	3	3	2	3	2	3	2	3	3	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.712G>T	p.Gly238Trp	p.G238W	ENST00000256999	6/19	120	98	22	139	139	0	strelka-varscan-mutect	FOLH1,missense_variant,p.Gly223Trp,ENST00000340334,NM_001193471.1;FOLH1,missense_variant,p.Gly238Trp,ENST00000256999,NM_004476.1;FOLH1,missense_variant,p.Gly238Trp,ENST00000356696,NM_001014986.1;FOLH1,missense_variant,p.Gly223Trp,ENST00000533034,NM_001193472.1;FOLH1,intron_variant,,ENST00000343844,NM_001193473.1;FOLH1,non_coding_transcript_exon_variant,,ENST00000458311,;FOLH1,non_coding_transcript_exon_variant,,ENST00000526226,;FOLH1,intron_variant,,ENST00000525826,;	A	ENST00000256999	Transcript	missense_variant	973/2635	712/2253	238/750	G/W	Ggg/Tgg		1		-1	FOLH1	HGNC	HGNC:3788	protein_coding	YES	CCDS7946.1	ENSP00000256999	Q04609		UPI0000000A01	NM_004476.1	tolerated(0.06)		6/19		Gene3D:3.50.30.30,Pfam_domain:PF02225,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF36,Superfamily_domains:SSF52025																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	49185783	49185783	C	A	1	0	0	0	0	1	0	0	0	5840	594	21	2		2	FOLH1	11	49185783	Missense_Mutation	SNP	C	C3N-00547_TP	1853112	49185783	85900839	432	15893											
OR4C15	0	.	GRCh38	chr11	55554849	55554849	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttatgtggccatttgcaaGcccttgcattactcttctat	7	16	7	11	1	2	0	0	0	2	0	2	0	2	0	2	1	4	3	2	1	4	6	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.543G>T	p.Lys181Asn	p.K181N	ENST00000314644	1/1	108	55	53	160	160	0	strelka-varscan-mutect	OR4C15,missense_variant,p.Lys181Asn,ENST00000314644,NM_001001920.1;	T	ENST00000314644	Transcript	missense_variant	543/1113	543/1113	181/370	K/N	aaG/aaT		1		1	OR4C15	HGNC	HGNC:15171	protein_coding	YES	CCDS31501.1	ENSP00000324958	Q8NGM1		UPI00003B288E	NM_001001920.1	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF14,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1239461272	.												T	3	4	50	55554849	55554849	G	T	1	0	0	0	0	1	0	0	0	11125	962	34	2		2	OR4C15	11	55554849	Missense_Mutation	SNP	G	C3N-00547_TP	6369066	55554849	79531773	433	15894											
TRIM51	0	.	GRCh38	chr11	55885517	55885517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccagtcaccatagactGtgggcacagcttttgccggc	9	8	11	13	1	1	2	1	0	0	2	1	2	1	2	3	2	2	2	3	2	1	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.89G>T	p.Cys30Phe	p.C30F	ENST00000449290	2/7	261	218	43	255	255	0	strelka-varscan-mutect	TRIM51,missense_variant,p.Cys30Phe,ENST00000449290,NM_032681.3;TRIM51,upstream_gene_variant,,ENST00000244891,;RP11-738O11.9,downstream_gene_variant,,ENST00000533247,;	T	ENST00000449290	Transcript	missense_variant	181/1629	89/1359	30/452	C/F	tGt/tTt		1		1	TRIM51	HGNC	HGNC:19023	protein_coding	YES		ENSP00000395086	Q9BSJ1		UPI0000DFFA1E	NM_032681.3	deleterious(0)		2/7		PROSITE_profiles:PS50089,hmmpanther:PTHR24103:SF302,hmmpanther:PTHR24103,PROSITE_patterns:PS00518,Pfam_domain:PF15227,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	55885517	55885517	G	T	1	0	0	0	0	1	0	0	0	17019	1377	48	2		2	TRIM51	11	55885517	Missense_Mutation	SNP	G	C3N-00547_TP	330668	55885517	79201105	434	15895											
TRIM51	0	.	GRCh38	chr11	55885607	55885607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgcaagaagacaacgcGgcagagaaacctcaacactg	17	4	10	10	2	1	4	1	1	0	3	1	5	1	4	1	1	4	2	1	1	6	0	rs367940835		C3N-00547_TP	C3N-00547_NB	G	G																c.179G>A	p.Arg60Gln	p.R60Q	ENST00000449290	2/7	221	188	33	226	226	0	strelka-varscan-mutect	TRIM51,missense_variant,p.Arg60Gln,ENST00000449290,NM_032681.3;TRIM51,upstream_gene_variant,,ENST00000244891,;RP11-738O11.9,downstream_gene_variant,,ENST00000533247,;	A	ENST00000449290	Transcript	missense_variant	271/1629	179/1359	60/452	R/Q	cGg/cAg	rs367940835,COSM5050881	1		1	TRIM51	HGNC	HGNC:19023	protein_coding	YES		ENSP00000395086	Q9BSJ1		UPI0000DFFA1E	NM_032681.3	tolerated(0.73)		2/7		hmmpanther:PTHR24103:SF302,hmmpanther:PTHR24103,Gene3D:3.30.40.10,Superfamily_domains:SSF57850											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs367940835	.												A	3	1	50	55885607	55885607	G	A	1	0	0	0	0	1	0	0	0	17019	1116	39	1		1	TRIM51	11	55885607	Missense_Mutation	SNP	G	C3N-00547_TP	90	55885607	79201015	435	15896											
OR8J1	0	.	GRCh38	chr11	56360662	56360662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggtggtggtgtctcggcGgctctgcctcctgctggtct	1	13	15	12	2	3	0	0	0	3	0	5	0	4	0	2	6	2	2	2	6	0	0	rs759085067		C3N-00547_TP	C3N-00547_NB	G	G																c.416G>T	p.Arg139Leu	p.R139L	ENST00000303039	1/1	77	42	35	84	84	0	strelka-varscan-mutect	OR8J1,missense_variant,p.Arg139Leu,ENST00000303039,NM_001005205.2;RPL5P29,downstream_gene_variant,,ENST00000482972,;	T	ENST00000303039	Transcript	missense_variant	448/1074	416/951	139/316	R/L	cGg/cTg	rs759085067	1		1	OR8J1	HGNC	HGNC:14855	protein_coding	YES	CCDS31529.1	ENSP00000304060	Q8NGP2		UPI000004BE58	NM_001005205.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF317,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs759085067	.												T	3	4	50	56360662	56360662	G	T	1	0	0	0	0	1	0	0	0	11309	1116	39	1		1	OR8J1	11	56360662	Missense_Mutation	SNP	G	C3N-00547_TP	475055	56360662	78725960	436	15897											
OR5B12	0	.	GRCh38	chr11	58439999	58439999	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatgggggtgtggagacaGgagtccagtagaatcaattc	12	9	14	6	0	1	2	1	0	0	2	3	4	2	3	1	4	1	1	1	4	4	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.153C>A	p.=	p.S51S	ENST00000302572	1/1	185	86	99	220	220	0	strelka-varscan-mutect	OR5B12,synonymous_variant,p.=,ENST00000302572,NM_001004733.2;	T	ENST00000302572	Transcript	synonymous_variant	175/1054	153/945	51/314	S	tcC/tcA		1		-1	OR5B12	HGNC	HGNC:15432	protein_coding	YES	CCDS31551.1	ENSP00000306657	Q96R08		UPI00000015B2	NM_001004733.2			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF15,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	50	58439999	58439999	G	T	1	0	0	0	0	0	0	0	1	11219	987	35	2		2	OR5B12	11	58439999	Silent	SNP	G	C3N-00547_TP	2079337	58439999	76646623	437	15898											
MS4A14	0	.	GRCh38	chr11	60416600	60416600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagactggctatccccaaaGaggcactccgtagataagca	15	6	9	11	1	0	3	0	0	0	3	2	3	2	3	3	2	1	4	3	2	5	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1731G>T	p.Lys577Asn	p.K577N	ENST00000531783	6/6	365	200	165	404	404	0	strelka-varscan-mutect	MS4A14,missense_variant,p.Lys560Asn,ENST00000395001,NM_001261827.1;MS4A14,missense_variant,p.Lys544Asn,ENST00000300187,NM_032597.4;MS4A14,missense_variant,p.Lys577Asn,ENST00000531783,NM_001261828.1;MS4A14,missense_variant,p.Lys527Asn,ENST00000395005,NM_001079692.2;MS4A14,missense_variant,p.Lys432Asn,ENST00000531787,;MS4A14,3_prime_UTR_variant,,ENST00000530662,;MS4A14,3_prime_UTR_variant,,ENST00000527841,;MS4A14,3_prime_UTR_variant,,ENST00000525397,;	T	ENST00000531783	Transcript	missense_variant	1822/2910	1731/2139	577/712	K/N	aaG/aaT		1		1	MS4A14	HGNC	HGNC:30706	protein_coding	YES	CCDS58136.1	ENSP00000433761	Q96JA4		UPI0001F77AC2	NM_001261828.1	deleterious(0)		6/6																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	60416600	60416600	G	T	1	0	0	0	0	1	0	0	0	9835	933	33	2		2	MS4A14	11	60416600	Missense_Mutation	SNP	G	C3N-00547_TP	1976601	60416600	74670022	438	15899											
AHNAK	0	.	GRCh38	chr11	62526622	62526622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccactttgggcagagaaaCatccacatcgcccttcacct	10	10	6	15	1	1	1	1	0	0	1	4	2	3	1	4	1	1	1	4	1	1	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.7795G>T	p.Val2599Phe	p.V2599F	ENST00000378024	5/5	280	138	142	304	304	0	strelka-varscan-mutect	AHNAK,missense_variant,p.Val2599Phe,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	A	ENST00000378024	Transcript	missense_variant	8070/18787	7795/17673	2599/5890	V/F	Gtt/Ttt		1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2	deleterious(0)		5/5		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	50	62526622	62526622	C	A	1	0	0	0	0	1	0	0	0	491	478	17	2		2	AHNAK	11	62526622	Missense_Mutation	SNP	C	C3N-00547_TP	2110022	62526622	72560000	439	15900											
SLC22A8	0	.	GRCh38	chr11	63014645	63014645	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctgtcacaatggagtccTtggtgctgttgtagacccag	7	12	11	11	0	2	1	1	0	1	1	3	2	3	2	3	2	1	3	3	2	2	3	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.314A>G	p.Lys105Arg	p.K105R	ENST00000336232	2/11	54	26	28	50	50	0	strelka-varscan-mutect	SLC22A8,missense_variant,p.Lys105Arg,ENST00000336232,NM_001184732.1,NM_004254.3;SLC22A8,missense_variant,p.Lys105Arg,ENST00000430500,;SLC22A8,missense_variant,p.Lys105Arg,ENST00000311438,;SLC22A8,missense_variant,p.Lys14Arg,ENST00000545207,NM_001184733.1;SLC22A8,intron_variant,,ENST00000535878,NM_001184736.1;SLC22A8,non_coding_transcript_exon_variant,,ENST00000544707,;	C	ENST00000336232	Transcript	missense_variant	450/2178	314/1629	105/542	K/R	aAg/aGg		1		-1	SLC22A8	HGNC	HGNC:10972	protein_coding	YES	CCDS8042.1	ENSP00000337335	Q8TCC7		UPI0000036DF2	NM_001184732.1,NM_004254.3	tolerated(0.55)		2/11		PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF294,TIGRFAM_domain:TIGR00898,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	63014645	63014645	T	C	1	0	0	0	0	1	0	0	0	14726	1609	56	5		5	SLC22A8	11	63014645	Missense_Mutation	SNP	T	C3N-00547_TP	488023	63014645	72071977	440	15901											
VEGFB	0	.	GRCh38	chr11	64237217	64237217	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacagtgctgtgaagccAgacaggtgagtcttttggac	11	9	14	7	0	1	3	0	2	1	1	1	5	1	5	1	3	2	1	1	3	2	2	rs200085344		C3N-00547_TP	C3N-00547_NB	A	A																c.405A>C	p.=	p.P135P	ENST00000309422	5/7	151	126	25	112	112	0	strelka-varscan-mutect	VEGFB,synonymous_variant,p.=,ENST00000309422,NM_003377.4;VEGFB,synonymous_variant,p.=,ENST00000426086,NM_001243733.1;DNAJC4,downstream_gene_variant,,ENST00000321685,NM_005528.3;DNAJC4,downstream_gene_variant,,ENST00000321460,NM_001307980.1;FKBP2,upstream_gene_variant,,ENST00000394540,NM_057092.2;DNAJC4,downstream_gene_variant,,ENST00000628077,;DNAJC4,downstream_gene_variant,,ENST00000355040,;FKBP2,upstream_gene_variant,,ENST00000309366,NM_004470.3;FKBP2,upstream_gene_variant,,ENST00000535135,;FKBP2,upstream_gene_variant,,ENST00000449942,NM_001135208.1;DNAJC4,downstream_gene_variant,,ENST00000535246,;VEGFB,upstream_gene_variant,,ENST00000541681,;RP11-783K16.14,upstream_gene_variant,,ENST00000534988,;RP11-783K16.14,upstream_gene_variant,,ENST00000539963,;VEGFB,non_coding_transcript_exon_variant,,ENST00000543462,;DNAJC4,downstream_gene_variant,,ENST00000537109,;FKBP2,upstream_gene_variant,,ENST00000541388,;DNAJC4,downstream_gene_variant,,ENST00000540945,;DNAJC4,downstream_gene_variant,,ENST00000536006,;FKBP2,upstream_gene_variant,,ENST00000536642,;DNAJC4,downstream_gene_variant,,ENST00000542376,;DNAJC4,downstream_gene_variant,,ENST00000538961,;DNAJC4,downstream_gene_variant,,ENST00000543791,;DNAJC4,downstream_gene_variant,,ENST00000543685,;	C	ENST00000309422	Transcript	synonymous_variant	701/1380	405/624	135/207	P	ccA/ccC	rs200085344,COSM3726590,COSM3726591	1		1	VEGFB	HGNC	HGNC:12681	protein_coding	YES	CCDS8062.1	ENSP00000311127	P49765	Q7LAP4	UPI0000001047	NM_003377.4			5/7		hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF12											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs200085344	.												C	2	2	50	64237217	64237217	A	C	1	0	0	0	0	0	0	0	1	17696	202	7	5		5	VEGFB	11	64237217	Silent	SNP	A	C3N-00547_TP	1222572	64237217	70849405	441	15902											
GPR137	0	.	GRCh38	chr11	64286578	64286578	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggctggtgcctgcgctGccacctgctgtgaccctggg	2	8	16	15	2	0	1	0	1	0	0	0	1	0	1	5	3	4	3	5	3	0	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.228G>A	p.=	p.L76L	ENST00000411458	3/9	130	113	17	105	105	0	strelka-varscan-mutect	GPR137,synonymous_variant,p.=,ENST00000539851,NM_001177358.1;GPR137,synonymous_variant,p.=,ENST00000438980,NM_001170880.1;GPR137,synonymous_variant,p.=,ENST00000411458,NM_001170726.1;GPR137,synonymous_variant,p.=,ENST00000313074,NM_020155.3;GPR137,synonymous_variant,p.=,ENST00000377702,NM_001170881.1;GPR137,synonymous_variant,p.=,ENST00000546139,;GPR137,synonymous_variant,p.=,ENST00000539833,;GPR137,synonymous_variant,p.=,ENST00000543383,;GPR137,synonymous_variant,p.=,ENST00000538032,;GPR137,synonymous_variant,p.=,ENST00000535675,;GPR137,synonymous_variant,p.=,ENST00000540370,;GPR137,synonymous_variant,p.=,ENST00000541952,;GPR137,synonymous_variant,p.=,ENST00000542190,;GPR137,synonymous_variant,p.=,ENST00000538244,;GPR137,intron_variant,,ENST00000536667,;KCNK4,upstream_gene_variant,,ENST00000422670,NM_033310.2;KCNK4,upstream_gene_variant,,ENST00000538767,;BAD,upstream_gene_variant,,ENST00000394532,NM_004322.3;BAD,upstream_gene_variant,,ENST00000309032,NM_032989.2;BAD,upstream_gene_variant,,ENST00000394531,;BAD,upstream_gene_variant,,ENST00000544785,;GPR137,upstream_gene_variant,,ENST00000536282,;GPR137,synonymous_variant,p.=,ENST00000546201,;GPR137,non_coding_transcript_exon_variant,,ENST00000536017,;KCNK4,upstream_gene_variant,,ENST00000453423,;KCNK4,upstream_gene_variant,,ENST00000538846,;BAD,upstream_gene_variant,,ENST00000544271,;GPR137,upstream_gene_variant,,ENST00000545366,;	A	ENST00000411458	Transcript	synonymous_variant	256/1495	228/1428	76/475	L	ctG/ctA		1		1	GPR137	HGNC	HGNC:24300	protein_coding	YES	CCDS53655.1	ENSP00000411827	Q96N19		UPI00017A7FAD	NM_001170726.1			3/9		hmmpanther:PTHR15146,hmmpanther:PTHR15146:SF5,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW		SNV	2			1										PASS		.	.												A	2	1	50	64286578	64286578	G	A	1	0	0	0	0	0	0	0	1	6531	1306	46	3		3	GPR137	11	64286578	Silent	SNP	G	C3N-00547_TP	49361	64286578	70800044	442	15903											
SNX32	0	.	GRCh38	chr11	65853322	65853323	+	Frame_Shift_Ins	INS	-	-	G																															aacacccttgttgccctaaaINSgggggagccttagagtagcc																								novel		C3N-00547_TP	C3N-00547_NB	-	-																c.1204dupG	p.Glu402GlyfsTer5	p.E402Gfs*5	ENST00000308342	13/13	241	209	32	198	198	0	sindel-varindel-pindel	SNX32,frameshift_variant,p.Glu402GlyfsTer5,ENST00000308342,NM_152760.2;CFL1,downstream_gene_variant,,ENST00000525451,;CFL1,downstream_gene_variant,,ENST00000308162,NM_005507.2;CFL1,downstream_gene_variant,,ENST00000531407,;CFL1,downstream_gene_variant,,ENST00000527344,;MUS81,upstream_gene_variant,,ENST00000529857,;CFL1,downstream_gene_variant,,ENST00000524553,;CFL1,downstream_gene_variant,,ENST00000532134,;CFL1,downstream_gene_variant,,ENST00000534769,;CFL1,downstream_gene_variant,,ENST00000534784,;CFL1,downstream_gene_variant,,ENST00000530413,;CFL1,downstream_gene_variant,,ENST00000531413,;CFL1,downstream_gene_variant,,ENST00000526975,;CFL1,intron_variant,,ENST00000527752,;SNX32,downstream_gene_variant,,ENST00000531795,;SNX32,intron_variant,,ENST00000530101,;CFL1,downstream_gene_variant,,ENST00000530945,;SNX32,downstream_gene_variant,,ENST00000526972,;SNX32,downstream_gene_variant,,ENST00000531503,;SNX32,downstream_gene_variant,,ENST00000533298,;SNX32,downstream_gene_variant,,ENST00000524729,;SNX32,downstream_gene_variant,,ENST00000533236,;SNX32,downstream_gene_variant,,ENST00000534387,;	G	ENST00000308342	Transcript	frameshift_variant	1624-1625/2003	1199-1200/1212	400/403	K/KX	aag/aaGg		1		1	SNX32	HGNC	HGNC:26423	protein_coding	YES	CCDS8113.2	ENSP00000310620	Q86XE0		UPI000000DAEA	NM_152760.2			13/13		hmmpanther:PTHR10555:SF137,hmmpanther:PTHR10555,PIRSF_domain:PIRSF036924																	HIGH	1	insertion	1	5		1										PASS		.	.												G	7	5	50	65853322	65853322	-	G	1	0	1	1	0	0	0	0	0	15223	72	3	0		0	SNX32	11	65853322	Frame_Shift_Ins	INS	-	C3N-00547_TP	1566744	65853322	69233300	443	15904											
BBS1	0	.	GRCh38	chr11	66523832	66523832	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctgggctggccaatggaGaggtccgcatttatcgtgac	7	10	15	9	2	0	2	0	1	0	1	2	3	1	2	2	5	0	3	2	5	2	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1171G>C	p.Glu391Gln	p.E391Q	ENST00000419755	11/17	683	648	35	687	686	1	strelka-varscan-mutect	CTD-3074O7.11,missense_variant,p.Glu391Gln,ENST00000419755,;BBS1,missense_variant,p.Glu354Gln,ENST00000318312,NM_024649.4;BBS1,missense_variant,p.Glu257Gln,ENST00000455748,;BBS1,3_prime_UTR_variant,,ENST00000630659,;BBS1,intron_variant,,ENST00000393994,;ZDHHC24,intron_variant,,ENST00000526986,;BBS1,downstream_gene_variant,,ENST00000525809,;BBS1,non_coding_transcript_exon_variant,,ENST00000529766,;BBS1,downstream_gene_variant,,ENST00000529953,;BBS1,3_prime_UTR_variant,,ENST00000526760,;BBS1,3_prime_UTR_variant,,ENST00000532908,;BBS1,non_coding_transcript_exon_variant,,ENST00000529955,;BBS1,non_coding_transcript_exon_variant,,ENST00000527959,;BBS1,non_coding_transcript_exon_variant,,ENST00000529895,;ZDHHC24,intron_variant,,ENST00000534073,;BBS1,downstream_gene_variant,,ENST00000533557,;BBS1,downstream_gene_variant,,ENST00000527251,;BBS1,downstream_gene_variant,,ENST00000533644,;BBS1,downstream_gene_variant,,ENST00000524458,;BBS1,downstream_gene_variant,,ENST00000533430,;BBS1,downstream_gene_variant,,ENST00000524907,;BBS1,downstream_gene_variant,,ENST00000526035,;BBS1,downstream_gene_variant,,ENST00000532283,;BBS1,downstream_gene_variant,,ENST00000524884,;BBS1,downstream_gene_variant,,ENST00000528543,;	C	ENST00000419755	Transcript	missense_variant	1249/3547	1171/1893	391/630	E/Q	Gag/Cag		1		1	CTD-3074O7.11	Clone_based_vega_gene		protein_coding	YES		ENSP00000398526			UPI000006E494		tolerated(0.12)		11/17		hmmpanther:PTHR20870,hmmpanther:PTHR20870:SF0,Gene3D:2.130.10.10,Superfamily_domains:SSF50998																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	50	66523832	66523832	G	C	1	0	0	0	0	1	0	0	0	1482	943	33	4		4	BBS1	11	66523832	Missense_Mutation	SNP	G	C3N-00547_TP	670510	66523832	68562790	444	15905											
FAT3	0	.	GRCh38	chr11	92352590	92352590	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctgagacctttgttttcaCccacaacatactctgttacc	10	14	4	13	0	3	1	1	1	2	1	3	2	3	1	3	0	3	2	3	0	3	5			C3N-00547_TP	C3N-00547_NB	C	C																c.28C>A	p.Pro10Thr	p.P10T	ENST00000525166	1/27	153	99	54	201	200	1	strelka-varscan-mutect	FAT3,missense_variant,p.Pro160Thr,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Pro10Thr,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000528921,;	A	ENST00000525166	Transcript	missense_variant	50/18699	28/13320	10/4439	P/T	Ccc/Acc	COSM5254338,COSM545689,COSM545690	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		deleterious(0.02)		1/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Superfamily_domains:SSF49313											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												A	3	1	50	92352590	92352590	C	A	1	0	0	0	0	1	0	0	0	5551	507	18	2		2	FAT3	11	92352590	Missense_Mutation	SNP	C	C3N-00547_TP	25828758	92352590	42734032	445	15906											
FAT3	0	.	GRCh38	chr11	92882831	92882831	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcctctgcaactgcacGccgggctacgtgggccagta	6	9	11	15	3	1	0	0	0	1	0	3	0	3	0	4	2	4	4	4	2	3	3			C3N-00547_TP	C3N-00547_NB	G	G																c.11925G>C	p.=	p.T3975T	ENST00000525166	23/27	159	101	58	199	199	0	strelka-varscan-mutect	FAT3,synonymous_variant,p.=,ENST00000409404,NM_001008781.2;FAT3,synonymous_variant,p.=,ENST00000525166,;FAT3,synonymous_variant,p.=,ENST00000533797,;FAT3,upstream_gene_variant,,ENST00000489716,;FAT3,upstream_gene_variant,,ENST00000469900,;	C	ENST00000525166	Transcript	synonymous_variant	11947/18699	11925/13320	3975/4439	T	acG/acC	COSM5157553,COSM5157554,COSM5157555	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895				23/27		PROSITE_profiles:PS50026,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196											1,1,1						LOW	1	SNV	5		1,1,1	1										PASS		rs1448341536	.												C	2	2	50	92882831	92882831	G	C	1	0	0	0	0	0	0	0	1	5551	1074	38	4		4	FAT3	11	92882831	Silent	SNP	G	C3N-00547_TP	530241	92882831	42203791	446	15907											
PANX1	0	.	GRCh38	chr11	94179694	94179694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taataatttaatcatcaagtAcattagctgccgcctgctga	13	13	6	9	1	2	1	2	1	0	0	2	1	2	1	2	0	4	3	2	0	6	6	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.638A>G	p.Tyr213Cys	p.Y213C	ENST00000227638	4/5	130	76	54	163	163	0	strelka-varscan-mutect	PANX1,missense_variant,p.Tyr213Cys,ENST00000227638,NM_015368.3;PANX1,missense_variant,p.Tyr213Cys,ENST00000436171,;	G	ENST00000227638	Transcript	missense_variant	1023/2769	638/1281	213/426	Y/C	tAc/tGc		1		1	PANX1	HGNC	HGNC:8599	protein_coding	YES	CCDS8296.1	ENSP00000227638	Q96RD7	A0A024R397	UPI000004C63F	NM_015368.3	deleterious(0)		4/5		Pfam_domain:PF00876,PROSITE_profiles:PS51013,hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF5,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	94179694	94179694	A	G	1	0	0	0	0	1	0	0	0	11501	391	14	5		5	PANX1	11	94179694	Missense_Mutation	SNP	A	C3N-00547_TP	1296863	94179694	40906928	447	15908											
MMP8	0	.	GRCh38	chr11	102713391	102713391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttattgcctcttgcaactCtggtaactctctgagcaata	10	15	6	10	0	3	1	0	1	3	0	4	1	3	1	1	1	5	3	1	1	5	6	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1361G>A	p.Arg454Lys	p.R454K	ENST00000236826	10/10	181	121	60	210	210	0	strelka-varscan-mutect	MMP8,missense_variant,p.Arg454Lys,ENST00000236826,NM_002424.2,NM_001304441.1,NM_001304442.1;MMP8,3_prime_UTR_variant,,ENST00000438475,;MMP8,3_prime_UTR_variant,,ENST00000528662,;	T	ENST00000236826	Transcript	missense_variant	1460/3056	1361/1404	454/467	R/K	aGa/aAa		1		-1	MMP8	HGNC	HGNC:7175	protein_coding	YES	CCDS8320.1	ENSP00000236826	P22894		UPI00000422BB	NM_002424.2,NM_001304441.1,NM_001304442.1	tolerated(0.07)		10/10		Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF137,SMART_domains:SM00120,Superfamily_domains:SSF50923																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	102713391	102713391	C	T	1	0	0	0	0	1	0	0	0	9631	913	32	3		3	MMP8	11	102713391	Missense_Mutation	SNP	C	C3N-00547_TP	8533697	102713391	32373231	448	15909											
OR10G8	0	.	GRCh38	chr11	124029678	124029678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggccttccccatgcccCagcgctggacgcccccctct	4	7	9	21	2	1	0	0	0	1	0	2	1	2	1	8	2	2	1	8	2	0	1	rs149524303		C3N-00547_TP	C3N-00547_NB	C	C																c.56C>A	p.Pro19Gln	p.P19Q	ENST00000431524	1/1	187	175	12	200	196	4	varscan-mutect	OR10G8,missense_variant,p.Pro19Gln,ENST00000431524,NM_001004464.1;	A	ENST00000431524	Transcript	missense_variant	89/1045	56/936	19/311	P/Q	cCa/cAa	rs149524303	1		1	OR10G8	HGNC	HGNC:14845	protein_coding	YES	CCDS31704.1	ENSP00000389072	Q8NGN5	A0A126GVX3	UPI0000040A8F	NM_001004464.1	tolerated(0.28)		1/1		hmmpanther:PTHR26453:SF146,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs149524303	.												A	3	1	50	124029678	124029678	C	A	1	0	0	0	0	1	0	0	0	10980	594	21	2		2	OR10G8	11	124029678	Missense_Mutation	SNP	C	C3N-00547_TP	21316287	124029678	11056944	449	15910											
PKNOX2	0	.	GRCh38	chr11	125429985	125429985	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaatgcccggaggcgcAtcctgcagcccatgcttgat	8	9	10	14	2	2	1	2	1	0	0	3	2	3	2	3	2	4	3	3	2	1	1	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1036A>C	p.Ile346Leu	p.I346L	ENST00000298282	12/13	123	57	66	145	145	0	strelka-varscan-mutect	PKNOX2,missense_variant,p.Ile346Leu,ENST00000298282,NM_022062.2;PKNOX2,non_coding_transcript_exon_variant,,ENST00000530517,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000531116,;PKNOX2,3_prime_UTR_variant,,ENST00000532623,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000526955,;	C	ENST00000298282	Transcript	missense_variant	1307/3687	1036/1419	346/472	I/L	Atc/Ctc		1		1	PKNOX2	HGNC	HGNC:16714	protein_coding	YES	CCDS41730.1	ENSP00000298282	Q96KN3		UPI000023271E	NM_022062.2	deleterious(0)		12/13		PROSITE_profiles:PS50071,hmmpanther:PTHR11850:SF53,hmmpanther:PTHR11850,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	125429985	125429985	A	C	1	0	0	0	0	1	0	0	0	12079	217	8	5		5	PKNOX2	11	125429985	Missense_Mutation	SNP	A	C3N-00547_TP	1400307	125429985	9656637	450	15911											
VPS26B	0	.	GRCh38	chr11	134245524	134245524	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgcctcacagcgctttgaGggcaccacctccctgggtga	7	8	11	15	2	1	2	1	2	0	0	3	2	2	2	4	2	1	2	4	2	0	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.945G>A	p.=	p.E315E	ENST00000281187	6/6	263	208	55	211	211	0	strelka-varscan-mutect	VPS26B,synonymous_variant,p.=,ENST00000281187,NM_052875.4;VPS26B,synonymous_variant,p.=,ENST00000525095,;THYN1,downstream_gene_variant,,ENST00000341541,NM_014174.2;THYN1,downstream_gene_variant,,ENST00000392594,NM_199298.1,NM_001037305.1;THYN1,downstream_gene_variant,,ENST00000392595,;THYN1,downstream_gene_variant,,ENST00000352327,NM_001037304.1,NM_199297.1;VPS26B,non_coding_transcript_exon_variant,,ENST00000531741,;THYN1,downstream_gene_variant,,ENST00000533975,;THYN1,downstream_gene_variant,,ENST00000531135,;VPS26B,downstream_gene_variant,,ENST00000527586,;THYN1,downstream_gene_variant,,ENST00000533781,;VPS26B,downstream_gene_variant,,ENST00000530402,;VPS26B,downstream_gene_variant,,ENST00000525918,;	A	ENST00000281187	Transcript	synonymous_variant	1423/3691	945/1011	315/336	E	gaG/gaA		1		1	VPS26B	HGNC	HGNC:28119	protein_coding	YES	CCDS8495.1	ENSP00000281187	Q4G0F5	A0A024R3L9	UPI000006DC43	NM_052875.4			6/6		hmmpanther:PTHR12233,hmmpanther:PTHR12233:SF5																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	134245524	134245524	G	A	1	0	0	0	0	0	0	0	1	17744	991	35	3		3	VPS26B	11	134245524	Silent	SNP	G	C3N-00547_TP	8815539	134245524	841098	451	15912											
IQSEC3	0	.	GRCh38	chr12	139328	139328	+	Nonsense_Mutation	SNP	C	C	A																															accctgcgcaagcggctctaCcgcatcggcctcaacctctt																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1965C>A	p.Tyr655Ter	p.Y655*	ENST00000538872	4/14	85	59	26	74	74	0	strelka-varscan-mutect	IQSEC3,stop_gained,p.Tyr655Ter,ENST00000538872,NM_001170738.1;IQSEC3,stop_gained,p.Tyr352Ter,ENST00000382841,NM_015232.1;RP11-598F7.4,intron_variant,,ENST00000505893,;RP11-598F7.4,downstream_gene_variant,,ENST00000508953,;	A	ENST00000538872	Transcript	stop_gained	2083/7094	1965/3549	655/1182	Y/*	taC/taA		1		1	IQSEC3	HGNC	HGNC:29193	protein_coding	YES	CCDS53728.1	ENSP00000437554	Q9UPP2		UPI0000DBEEF0	NM_001170738.1			4/14		PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF62,Pfam_domain:PF01369,Gene3D:1.10.220.20,SMART_domains:SM00222,Superfamily_domains:SSF48425																	HIGH		SNV	5			1										PASS		.	.												A	4	1	50	139328	139328	C	A	1	0	0	0	0	0	1	0	0	7725	518	18	2		2	IQSEC3	12	139328	Nonsense_Mutation	SNP	C	C3N-00547_TP		139328	133135981	452	15913	342	2									
IQSEC3	0	.	GRCh38	chr12	139330	139330	+	Missense_Mutation	SNP	G	G	A																															cctgcgcaagcggctctaccGcatcggcctcaacctcttca																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1967G>A	p.Arg656His	p.R656H	ENST00000538872	4/14	84	58	26	72	72	0	strelka-varscan-mutect	IQSEC3,missense_variant,p.Arg656His,ENST00000538872,NM_001170738.1;IQSEC3,missense_variant,p.Arg353His,ENST00000382841,NM_015232.1;RP11-598F7.4,intron_variant,,ENST00000505893,;RP11-598F7.4,downstream_gene_variant,,ENST00000508953,;	A	ENST00000538872	Transcript	missense_variant	2085/7094	1967/3549	656/1182	R/H	cGc/cAc		1		1	IQSEC3	HGNC	HGNC:29193	protein_coding	YES	CCDS53728.1	ENSP00000437554	Q9UPP2		UPI0000DBEEF0	NM_001170738.1	deleterious(0)		4/14		PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF62,Pfam_domain:PF01369,Gene3D:1.10.220.20,SMART_domains:SM00222,Superfamily_domains:SSF48425																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	50	139330	139330	G	A	1	0	0	0	0	1	0	0	0	7725	1087	38	1		1	IQSEC3	12	139330	Missense_Mutation	SNP	G	C3N-00547_TP	2	139330	133135979	453	15914	342	2									
CRACR2A	0	.	GRCh38	chr12	3638267	3638267	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgctcaggggttgctcaaAgccaccatccaggagctggg	8	9	13	11	0	2	0	2	0	0	0	3	1	3	1	3	4	4	4	3	4	1	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1459T>C	p.Phe487Leu	p.F487L	ENST00000440314	14/20	388	336	52	273	273	0	strelka-varscan-mutect	CRACR2A,missense_variant,p.Phe487Leu,ENST00000440314,NM_001144958.1;CRACR2A,downstream_gene_variant,,ENST00000535292,;CRACR2A,3_prime_UTR_variant,,ENST00000333750,;	G	ENST00000440314	Transcript	missense_variant	1933/2697	1459/2196	487/731	F/L	Ttt/Ctt		1		-1	CRACR2A	HGNC	HGNC:28657	protein_coding	YES	CCDS44803.1	ENSP00000409382	Q9BSW2		UPI00017A8807	NM_001144958.1	tolerated(0.68)		14/20		hmmpanther:PTHR22621:SF2,hmmpanther:PTHR22621																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	50	3638267	3638267	A	G	1	0	0	0	0	1	0	0	0	3643	72	3	5		5	CRACR2A	12	3638267	Missense_Mutation	SNP	A	C3N-00547_TP	3498937	3638267	129637042	454	15915											
CRACR2A	0	.	GRCh38	chr12	3696842	3696842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaactcctgtgccttcCtcagcatgactagctggccc	9	9	9	14	0	1	2	1	1	0	1	3	3	3	2	4	1	4	2	4	1	3	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.158G>A	p.Arg53Lys	p.R53K	ENST00000440314	4/20	419	332	87	423	423	0	strelka-varscan-mutect	CRACR2A,missense_variant,p.Arg53Lys,ENST00000440314,NM_001144958.1;CRACR2A,missense_variant,p.Arg53Lys,ENST00000252322,NM_032680.3;	T	ENST00000440314	Transcript	missense_variant	632/2697	158/2196	53/731	R/K	aGg/aAg		1		-1	CRACR2A	HGNC	HGNC:28657	protein_coding	YES	CCDS44803.1	ENSP00000409382	Q9BSW2		UPI00017A8807	NM_001144958.1	tolerated(0.39)		4/20		hmmpanther:PTHR22621:SF2,hmmpanther:PTHR22621,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	50	3696842	3696842	C	T	1	0	0	0	0	1	0	0	0	3643	681	24	3		3	CRACR2A	12	3696842	Missense_Mutation	SNP	C	C3N-00547_TP	58575	3696842	129578467	455	15916											
GALNT8	0	.	GRCh38	chr12	4811572	4811572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaccgggaacggagacccAgctaccttcctacaccacat	12	6	7	16	2	0	1	0	0	0	1	1	3	1	2	5	2	5	1	5	2	4	4	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1531A>G	p.Ser511Gly	p.S511G	ENST00000280684	1/1	168	144	24	169	169	0	strelka-varscan-mutect	GALNT8,missense_variant,p.Ser511Gly,ENST00000433855,NM_002235.3;KCNA6,missense_variant,p.Ser511Gly,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;	G	ENST00000280684	Transcript	missense_variant	2397/4237	1531/1590	511/529	S/G	Agc/Ggc		1		1	KCNA6	HGNC	HGNC:6225	protein_coding	YES	CCDS8534.1	ENSP00000280684	P17658		UPI00001279AD		tolerated_low_confidence(0.26)		1/1		Prints_domain:PR01513,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF104																	MODERATE		SNV				1										PASS		.	.												G	3	3	50	4811572	4811572	A	G	1	0	0	0	0	1	0	0	0	6090	188	7	5		5	GALNT8	12	4811572	Missense_Mutation	SNP	A	C3N-00547_TP	1114730	4811572	128463737	456	15917											
CD4	0	.	GRCh38	chr12	6816324	6816324	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccttgcctcagtatgcTggctctggaaacctcaccct	7	10	9	15	0	3	0	2	0	1	0	3	1	3	1	4	3	3	3	4	3	2	2	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.876T>A	p.=	p.A292A	ENST00000011653	6/10	248	195	53	278	278	0	strelka-varscan-mutect	CD4,synonymous_variant,p.=,ENST00000011653,NM_000616.4;CD4,downstream_gene_variant,,ENST00000541982,;CD4,non_coding_transcript_exon_variant,,ENST00000538827,;CD4,downstream_gene_variant,,ENST00000536610,;CD4,downstream_gene_variant,,ENST00000536563,;CD4,downstream_gene_variant,,ENST00000536590,;CD4,non_coding_transcript_exon_variant,,ENST00000437800,;CD4,downstream_gene_variant,,ENST00000544344,;CD4,downstream_gene_variant,,ENST00000543755,;	A	ENST00000011653	Transcript	synonymous_variant	1134/3114	876/1377	292/458	A	gcT/gcA		1		1	CD4	HGNC	HGNC:1678	protein_coding	YES	CCDS8562.1	ENSP00000011653	P01730		UPI0000001294	NM_000616.4			6/10		hmmpanther:PTHR11422:SF0,hmmpanther:PTHR11422,Gene3D:2.60.40.10,Pfam_domain:PF09191,SMART_domains:SM00409,Superfamily_domains:SSF48726,Prints_domain:PR00692																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	6816324	6816324	T	A	1	0	0	0	0	0	0	0	1	2718	1567	55	4		4	CD4	12	6816324	Silent	SNP	T	C3N-00547_TP	2004752	6816324	126458985	457	15918											
RP11-545J16.1	0	.	GRCh38	chr12	20875433	20875433	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgatagaaatcaaacagCtaatttgaccaaccaaggaa	19	8	7	7	0	1	4	1	3	0	1	1	5	1	5	2	1	3	1	2	1	7	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.926C>G	p.Ala309Gly	p.A309G	ENST00000261196	7/14	76	66	10	135	135	0	strelka-varscan-mutect	SLCO1B3,missense_variant,p.Ala309Gly,ENST00000261196,;SLCO1B3,missense_variant,p.Ala309Gly,ENST00000381545,NM_019844.3;RP11-545J16.1,missense_variant,p.Ala309Gly,ENST00000540229,;SLCO1B3,missense_variant,p.Ala133Gly,ENST00000544370,;RP11-545J16.1,intron_variant,,ENST00000381541,;SLCO1B3,downstream_gene_variant,,ENST00000540853,;	G	ENST00000261196	Transcript	missense_variant	993/2840	926/2109	309/702	A/G	gCt/gGt		1		1	SLCO1B3	HGNC	HGNC:10961	protein_coding	YES	CCDS8684.1	ENSP00000261196	Q9NPD5		UPI000013544A		tolerated(0.21)		7/14		PROSITE_profiles:PS50850,hmmpanther:PTHR11388:SF89,hmmpanther:PTHR11388,TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	20875433	20875433	C	G	1	0	0	0	0	1	0	0	0	13751	797	28	4		4	RP11-545J16.1	12	20875433	Missense_Mutation	SNP	C	C3N-00547_TP	14059109	20875433	112399876	458	15919											
KRAS	0	.	GRCh38	chr12	25245350	25245350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		C3N-00547_TP	C3N-00547_NB	C	C																c.35G>T	p.Gly12Val	p.G12V	ENST00000256078	2/6	319	203	116	326	326	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Val,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Val,ENST00000556131,;KRAS,missense_variant,p.Gly12Val,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Val,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	99/1119	35/570	12/189	G/V	gGt/gTt	rs121913529,CM087372,COSM1135366,COSM1140133,COSM1140134,COSM12657,COSM49168,COSM520,COSM521,COSM522	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,0,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1,1,1	1										PASS		rs121913529	.												A	3	1	50	25245350	25245350	C	A	1	0	0	0	0	1	0	0	0	8318	507	18	2		2	KRAS	12	25245350	Missense_Mutation	SNP	C	C3N-00547_TP	4369917	25245350	108029959	459	15920											
LRRK2	0	.	GRCh38	chr12	40235654	40235654	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaaatgctaacagttcatAatgccagtgtaaacttgtca	15	13	6	7	0	2	0	2	0	0	0	2	0	2	0	1	0	4	3	1	0	6	6	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.376A>T	p.Asn126Tyr	p.N126Y	ENST00000298910	4/51	296	202	94	306	306	0	strelka-varscan-mutect	LRRK2,missense_variant,p.Asn126Tyr,ENST00000298910,NM_198578.3;LRRK2,missense_variant,p.Asn126Tyr,ENST00000343742,;LRRK2,missense_variant,p.Asn55Tyr,ENST00000416796,;LRRK2,downstream_gene_variant,,ENST00000474202,;	T	ENST00000298910	Transcript	missense_variant	434/9158	376/7584	126/2527	N/Y	Aat/Tat		1		1	LRRK2	HGNC	HGNC:18618	protein_coding	YES	CCDS31774.1	ENSP00000298910	Q5S007		UPI00006C128E	NM_198578.3	tolerated(0.16)		4/51		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	40235654	40235654	A	T	1	0	0	0	0	1	0	0	0	8939	362	13	4		4	LRRK2	12	40235654	Missense_Mutation	SNP	A	C3N-00547_TP	14990304	40235654	93039655	460	15921											
NELL2	0	.	GRCh38	chr12	44523365	44523365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttaacttttccatcatGgatgcagtcccctgtgcaat	8	14	8	11	0	1	0	1	0	0	0	3	1	3	1	3	1	4	3	3	1	2	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2074C>A	p.His692Asn	p.H692N	ENST00000437801	18/21	327	270	57	350	349	1	strelka-varscan-mutect	NELL2,missense_variant,p.His642Asn,ENST00000429094,NM_001145108.1;NELL2,missense_variant,p.His692Asn,ENST00000437801,NM_001145107.1;NELL2,missense_variant,p.His641Asn,ENST00000395487,NM_001145109.1;NELL2,missense_variant,p.His642Asn,ENST00000452445,NM_006159.2;NELL2,missense_variant,p.His594Asn,ENST00000551601,;NELL2,missense_variant,p.His641Asn,ENST00000549027,;NELL2,missense_variant,p.His665Asn,ENST00000333837,NM_001145110.1;NELL2,missense_variant,p.His55Asn,ENST00000550139,;NELL2,non_coding_transcript_exon_variant,,ENST00000547636,;	T	ENST00000437801	Transcript	missense_variant	2446/3279	2074/2601	692/866	H/N	Cat/Aat		1		-1	NELL2	HGNC	HGNC:7751	protein_coding	YES	CCDS44863.1	ENSP00000416341	Q99435		UPI000191537D	NM_001145107.1	tolerated(0.06)		18/21		PROSITE_profiles:PS50184,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF0,Gene3D:2.10.70.10,SMART_domains:SM00214																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	50	44523365	44523365	G	T	1	0	0	0	0	1	0	0	0	10365	1348	47	2		2	NELL2	12	44523365	Missense_Mutation	SNP	G	C3N-00547_TP	4287711	44523365	88751944	461	15922											
ARID2	0	.	GRCh38	chr12	45817754	45817754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgctttcactgttatctgGactcccaaatgaagtggact	9	13	10	9	0	2	1	1	1	1	0	3	3	3	3	1	3	1	2	1	3	3	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.503G>T	p.Gly168Val	p.G168V	ENST00000334344	5/21	263	177	86	312	312	0	strelka-varscan-mutect	ARID2,missense_variant,p.Gly168Val,ENST00000334344,NM_152641.2;ARID2,missense_variant,p.Gly19Val,ENST00000422737,;	T	ENST00000334344	Transcript	missense_variant	675/8642	503/5508	168/1835	G/V	gGa/gTa		1		1	ARID2	HGNC	HGNC:18037	protein_coding	YES	CCDS31783.1	ENSP00000335044	Q68CP9		UPI00001D7973	NM_152641.2	deleterious(0.02)		5/21		hmmpanther:PTHR22970,hmmpanther:PTHR22970:SF14,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	45817754	45817754	G	T	1	0	0	0	0	1	0	0	0	1051	1174	41	2		2	ARID2	12	45817754	Missense_Mutation	SNP	G	C3N-00547_TP	1294389	45817754	87457555	462	15923											
LINC00935	0	.	GRCh38	chr12	48759300	48759300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagccacacaagataccaCgaagctgtccggaaggtgtt	14	7	10	10	2	0	1	0	0	0	1	1	3	1	2	3	2	3	2	3	2	6	3	rs758541354		C3N-00547_TP	C3N-00547_NB	C	C																c.171C>A	p.His57Gln	p.H57Q	ENST00000548380	2/4	186	125	61	189	189	0	strelka-varscan-mutect	LINC00935,missense_variant,p.His57Gln,ENST00000548380,;LINC00935,3_prime_UTR_variant,,ENST00000548054,;	A	ENST00000548380	Transcript	missense_variant	217/573	171/396	57/131	H/Q	caC/caA	rs758541354	1		1	LINC00935	HGNC	HGNC:48628	protein_coding	YES		ENSP00000489652			UPI00001605D7		tolerated(0.58)		2/4		hmmpanther:PTHR35263																	MODERATE	1	SNV	1			1										PASS		rs758541354	.												A	3	1	50	48759300	48759300	C	A	1	0	0	0	0	1	0	0	0	8730	535	19	1		1	LINC00935	12	48759300	Missense_Mutation	SNP	C	C3N-00547_TP	2941546	48759300	84516009	463	15924											
AQP6	0	.	GRCh38	chr12	49975649	49975649	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcccagccgggttcgggagCcgtggagatggagagtgtgt	7	8	18	8	3	0	2	0	0	0	2	2	5	1	3	3	4	2	1	3	4	0	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.827C>G	p.Ala276Gly	p.A276G	ENST00000615425	4/5	47	40	7	42	42	0	strelka-mutect	AQP6,missense_variant,p.Ala276Gly,ENST00000615425,NM_001652.3;AQP6,missense_variant,p.Ala276Gly,ENST00000315520,;AQP6,missense_variant,p.Ala102Gly,ENST00000551733,;AQP6,downstream_gene_variant,,ENST00000618286,;RACGAP1,downstream_gene_variant,,ENST00000548961,;AQP6,non_coding_transcript_exon_variant,,ENST00000489786,;	G	ENST00000615425	Transcript	missense_variant	827/2245	827/849	276/282	A/G	gCc/gGc		1		1	AQP6	HGNC	HGNC:639	protein_coding	YES	CCDS31798.1	ENSP00000477688	Q13520		UPI000013EBD8	NM_001652.3	tolerated(0.18)		4/5		Prints_domain:PR02018,hmmpanther:PTHR19139,hmmpanther:PTHR19139:SF113																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	50	49975649	49975649	C	G	1	0	0	0	0	1	0	0	0	953	739	26	4		4	AQP6	12	49975649	Missense_Mutation	SNP	C	C3N-00547_TP	1216349	49975649	83299660	464	15925											
ANKRD33	0	.	GRCh38	chr12	51890696	51890696	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcagctgctgaggcggccCcaagtggagcagcttagcca	8	5	15	13	2	0	1	0	1	0	0	0	2	0	2	3	4	5	5	3	4	2	1	rs779120061		C3N-00547_TP	C3N-00547_NB	C	C																c.750C>A	p.=	p.P250P	ENST00000301190	5/5	217	186	31	218	218	0	strelka-varscan-mutect	ANKRD33,synonymous_variant,p.=,ENST00000301190,NM_182608.3;ANKRD33,synonymous_variant,p.=,ENST00000340970,NM_001130015.1;ANKRD33,non_coding_transcript_exon_variant,,ENST00000547119,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000549316,;ANKRD33,3_prime_UTR_variant,,ENST00000549751,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548526,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548383,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000550652,;	A	ENST00000301190	Transcript	synonymous_variant	977/1935	750/1359	250/452	P	ccC/ccA	rs779120061	1		1	ANKRD33	HGNC	HGNC:13788	protein_coding	YES	CCDS8815.1	ENSP00000301190	Q7Z3H0		UPI00003668C0	NM_182608.3			5/5		hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF29,SMART_domains:SM00248																	LOW	1	SNV	2			1										PASS		rs779120061	.												A	2	1	50	51890696	51890696	C	A	1	0	0	0	0	0	0	0	1	765	610	22	2		2	ANKRD33	12	51890696	Silent	SNP	C	C3N-00547_TP	1915047	51890696	81384613	465	15926											
GRASP	0	.	GRCh38	chr12	52013704	52013704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggacaccatcgccagcGtcaatggcctgaatgtggaa	11	6	13	11	2	1	1	1	1	0	0	2	3	1	3	3	4	1	0	3	4	3	0			C3N-00547_TP	C3N-00547_NB	G	G																c.472G>T	p.Val158Phe	p.V158F	ENST00000293662	5/8	273	229	44	224	224	0	strelka-varscan-mutect	GRASP,missense_variant,p.Val158Phe,ENST00000293662,NM_181711.3;GRASP,missense_variant,p.Val15Phe,ENST00000552049,NM_001271856.1;GRASP,missense_variant,p.Val28Phe,ENST00000546756,;GRASP,non_coding_transcript_exon_variant,,ENST00000552963,;GRASP,non_coding_transcript_exon_variant,,ENST00000547749,;GRASP,non_coding_transcript_exon_variant,,ENST00000552508,;GRASP,non_coding_transcript_exon_variant,,ENST00000548505,;GRASP,downstream_gene_variant,,ENST00000550809,;	T	ENST00000293662	Transcript	missense_variant	552/1933	472/1188	158/395	V/F	Gtc/Ttc	COSM1734782	1		1	GRASP	HGNC	HGNC:18707	protein_coding	YES	CCDS8817.1	ENSP00000293662	Q7Z6J2		UPI00001A9479	NM_181711.3	deleterious(0)		5/8		PROSITE_profiles:PS50106,hmmpanther:PTHR15963,hmmpanther:PTHR15963:SF3,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156											1						MODERATE	1	SNV	1		1	1										PASS		rs1258287190	.												T	3	4	50	52013704	52013704	G	T	1	0	0	0	0	1	0	0	0	6634	1145	40	1		1	GRASP	12	52013704	Missense_Mutation	SNP	G	C3N-00547_TP	123008	52013704	81261605	466	15927											
PPP1R1A	0	.	GRCh38	chr12	54584263	54584263	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctatcccttggcttacctgGggatgactggtcactggtca	6	12	11	12	0	2	1	2	1	0	0	3	2	3	2	3	5	1	1	3	5	2	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.142C>G	p.Pro48Ala	p.P48A	ENST00000257905	2/7	240	162	78	315	314	1	strelka-varscan-mutect	PPP1R1A,missense_variant,p.Pro48Ala,ENST00000547431,;PPP1R1A,missense_variant,p.Pro48Ala,ENST00000257905,NM_006741.3;PPP1R1A,missense_variant,p.Pro19Ala,ENST00000553113,;PPP1R1A,missense_variant,p.Pro48Ala,ENST00000547826,;	C	ENST00000257905	Transcript	missense_variant	313/1826	142/516	48/171	P/A	Cca/Gca		1		-1	PPP1R1A	HGNC	HGNC:9286	protein_coding	YES	CCDS44912.1	ENSP00000257905	Q13522		UPI000012D802	NM_006741.3	deleterious(0)		2/7		Pfam_domain:PF05395,hmmpanther:PTHR15417,hmmpanther:PTHR15417:SF4																	MODERATE	1	SNV	1			1										PASS		rs1183816449	.												C	3	2	50	54584263	54584263	G	C	1	0	0	0	0	1	0	0	0	12479	1246	43	4		4	PPP1R1A	12	54584263	Missense_Mutation	SNP	G	C3N-00547_TP	2570559	54584263	78691046	467	15928											
TIMELESS	0	.	GRCh38	chr12	56423461	56423461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacataggctcgaacgacaGttgaacatgcaaagctgcac	14	6	10	11	2	0	1	0	1	0	0	1	3	0	1	0	1	5	6	0	1	4	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2105C>T	p.Thr702Ile	p.T702I	ENST00000553532	18/29	137	87	50	155	155	0	strelka-varscan-mutect	TIMELESS,missense_variant,p.Thr702Ile,ENST00000553532,NM_003920.3;TIMELESS,missense_variant,p.Thr701Ile,ENST00000229201,;TIMELESS,non_coding_transcript_exon_variant,,ENST00000557589,;TIMELESS,upstream_gene_variant,,ENST00000555808,;TIMELESS,upstream_gene_variant,,ENST00000553314,;	A	ENST00000553532	Transcript	missense_variant	2256/5121	2105/3627	702/1208	T/I	aCt/aTt		1		-1	TIMELESS	HGNC	HGNC:11813	protein_coding	YES	CCDS8918.1	ENSP00000450607	Q9UNS1		UPI000013C8EA	NM_003920.3	tolerated(0.18)		18/29		hmmpanther:PTHR22940,hmmpanther:PTHR22940:SF4																	MODERATE	1	SNV	1			1										PASS		rs1373488000	.												A	3	1	50	56423461	56423461	G	A	1	0	0	0	0	1	0	0	0	16342	1029	36	3		3	TIMELESS	12	56423461	Missense_Mutation	SNP	G	C3N-00547_TP	1839198	56423461	76851848	468	15929											
LRP1	0	.	GRCh38	chr12	57210743	57210743	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacgtgccggtgccccacGggcttcacgggccccaaatg	6	5	12	18	4	1	0	1	0	0	0	1	0	1	0	6	3	2	1	6	3	1	1	rs145886930		C3N-00547_TP	C3N-00547_NB	G	G																c.12780G>T	p.=	p.T4260T	ENST00000243077	83/89	101	79	22	82	82	0	strelka-varscan-mutect	LRP1,synonymous_variant,p.=,ENST00000243077,NM_002332.2;LRP1,non_coding_transcript_exon_variant,,ENST00000556356,;LRP1,downstream_gene_variant,,ENST00000451724,;	T	ENST00000243077	Transcript	synonymous_variant	13246/14897	12780/13635	4260/4544	T	acG/acT	rs145886930	1		1	LRP1	HGNC	HGNC:6692	protein_coding	YES	CCDS8932.1	ENSP00000243077	Q07954		UPI00001B044F	NM_002332.2			83/89		Gene3D:2.10.25.10,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,SMART_domains:SM00179,SMART_domains:SM00181																	LOW	1	SNV	1			1										PASS		rs145886930	.												T	2	4	50	57210743	57210743	G	T	1	0	0	0	0	0	0	0	1	8846	1103	39	1		1	LRP1	12	57210743	Silent	SNP	G	C3N-00547_TP	787282	57210743	76064566	469	15930											
OS9	0	.	GRCh38	chr12	57694872	57694872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaacacctgcttaccaaggGcctgggatccctgagttgtt	9	10	11	11	0	0	1	0	1	0	0	1	3	1	2	4	2	3	3	4	2	3	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.285G>A	p.=	p.G95G	ENST00000315970	2/15	373	331	42	342	342	0	strelka-varscan-mutect	OS9,synonymous_variant,p.=,ENST00000315970,NM_006812.3;OS9,synonymous_variant,p.=,ENST00000257966,NM_001261420.1;OS9,synonymous_variant,p.=,ENST00000389142,NM_001017957.2;OS9,synonymous_variant,p.=,ENST00000435406,NM_001261422.1;OS9,synonymous_variant,p.=,ENST00000551035,NM_001261421.1;OS9,synonymous_variant,p.=,ENST00000552285,NM_001017956.2;OS9,synonymous_variant,p.=,ENST00000389146,NM_001017958.2;OS9,synonymous_variant,p.=,ENST00000413095,;OS9,synonymous_variant,p.=,ENST00000547079,;OS9,synonymous_variant,p.=,ENST00000550372,;OS9,intron_variant,,ENST00000439210,NM_001261423.1;RP11-571M6.7,intron_variant,,ENST00000549477,;OS9,synonymous_variant,p.=,ENST00000552787,;OS9,synonymous_variant,p.=,ENST00000552423,;OS9,3_prime_UTR_variant,,ENST00000551285,;OS9,3_prime_UTR_variant,,ENST00000550848,;OS9,non_coding_transcript_exon_variant,,ENST00000553208,;OS9,non_coding_transcript_exon_variant,,ENST00000549897,;OS9,non_coding_transcript_exon_variant,,ENST00000550793,;OS9,upstream_gene_variant,,ENST00000549307,;	A	ENST00000315970	Transcript	synonymous_variant	326/2691	285/2004	95/667	G	ggG/ggA		1		1	OS9	HGNC	HGNC:16994	protein_coding	YES	CCDS31843.1	ENSP00000318165	Q13438		UPI0000130EAC	NM_006812.3			2/15		hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF0																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	57694872	57694872	G	A	1	0	0	0	0	0	0	0	1	11338	1190	42	3		3	OS9	12	57694872	Silent	SNP	G	C3N-00547_TP	484129	57694872	75580437	470	15931											
LLPH	0	.	GRCh38	chr12	66123869	66123869	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaccctttgccactttcaCtgcttttgctttgcttttcc	5	18	4	14	0	1	0	1	0	0	0	2	0	2	0	3	0	5	3	3	0	1	7	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.361G>T	p.Val121Leu	p.V121L	ENST00000266604	3/3	129	112	17	113	113	0	strelka-varscan-mutect	LLPH,missense_variant,p.Val121Leu,ENST00000266604,NM_032338.3;LLPH,missense_variant,p.Val121Leu,ENST00000446587,;RP11-745O10.4,downstream_gene_variant,,ENST00000539652,;	A	ENST00000266604	Transcript	missense_variant	432/7746	361/390	121/129	V/L	Gtg/Ttg		1		-1	LLPH	HGNC	HGNC:28229	protein_coding	YES	CCDS8974.1	ENSP00000266604	Q9BRT6	A0A024RB76	UPI000006E52D	NM_032338.3	tolerated_low_confidence(0.34)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR34253:SF1,hmmpanther:PTHR34253																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	66123869	66123869	C	A	1	0	0	0	0	1	0	0	0	8759	565	20	2		2	LLPH	12	66123869	Missense_Mutation	SNP	C	C3N-00547_TP	8428997	66123869	67151440	471	15932											
PTPRB	0	.	GRCh38	chr12	70592360	70592360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacttgataaagtcgaccggGgactaactctttaaagtgag	14	10	10	7	2	1	2	0	2	1	0	2	4	1	3	1	2	2	0	1	2	6	5	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1702C>A	p.Pro568Thr	p.P568T	ENST00000334414	7/34	392	268	124	462	462	0	strelka-varscan-mutect	PTPRB,missense_variant,p.Pro568Thr,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Pro568Thr,ENST00000550358,;PTPRB,missense_variant,p.Pro350Thr,ENST00000261266,NM_002837.4;PTPRB,missense_variant,p.Pro350Thr,ENST00000538708,NM_001206972.1;PTPRB,missense_variant,p.Pro350Thr,ENST00000550857,NM_001206971.1;PTPRB,missense_variant,p.Pro567Thr,ENST00000551525,;PTPRB,missense_variant,p.Pro447Thr,ENST00000548122,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;	T	ENST00000334414	Transcript	missense_variant	1747/12316	1702/6648	568/2215	P/T	Ccc/Acc		1		-1	PTPRB	HGNC	HGNC:9665	protein_coding	YES	CCDS44943.1	ENSP00000334928	P23467		UPI00002294FA	NM_001109754.2	deleterious(0)		7/34		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	70592360	70592360	G	T	1	0	0	0	0	1	0	0	0	12950	1232	43	2		2	PTPRB	12	70592360	Missense_Mutation	SNP	G	C3N-00547_TP	4468491	70592360	62682949	472	15933											
TRHDE	0	.	GRCh38	chr12	72618889	72618889	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttttttttttttaactgtAgggctggctatttgcctcag	5	21	8	7	0	1	0	1	0	0	0	1	0	1	0	1	2	2	3	1	2	3	10	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.2187-2A>T		p.X729_splice	ENST00000261180		58	38	20	61	61	0	varscan-mutect	TRHDE,splice_acceptor_variant,,ENST00000261180,NM_013381.2;TRHDE,splice_acceptor_variant,,ENST00000549138,;TRHDE,splice_acceptor_variant,,ENST00000549922,;	T	ENST00000261180	Transcript	splice_acceptor_variant	-/10733	2187/3075	729/1024				1		1	TRHDE	HGNC	HGNC:30748	protein_coding	YES	CCDS9004.1	ENSP00000261180	Q9UKU6		UPI0000136D52	NM_013381.2				12/18																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	50	72618889	72618889	A	T	1	0	0	0	0	0	0	1	0	16968	434	15	4		4	TRHDE	12	72618889	Splice_Site	SNP	A	C3N-00547_TP	2026529	72618889	60656420	473	15934											
KCNC2	0	.	GRCh38	chr12	75207624	75207624	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggggcagtgcagcttgccGgtgcggtagtaattgagcac	7	8	17	9	3	0	1	0	1	0	0	0	1	0	1	1	4	5	6	1	4	2	4	rs773968350		C3N-00547_TP	C3N-00547_NB	G	G																c.360C>T	p.=	p.T120T	ENST00000549446	2/5	387	324	63	379	379	0	strelka-varscan-mutect	KCNC2,synonymous_variant,p.=,ENST00000549446,NM_139137.3;KCNC2,synonymous_variant,p.=,ENST00000298972,NM_139136.3;KCNC2,synonymous_variant,p.=,ENST00000350228,NM_153748.2;KCNC2,synonymous_variant,p.=,ENST00000548513,;KCNC2,synonymous_variant,p.=,ENST00000550433,NM_001260498.1;KCNC2,synonymous_variant,p.=,ENST00000393288,NM_001260497.1;KCNC2,synonymous_variant,p.=,ENST00000540018,NM_001260499.1;	A	ENST00000549446	Transcript	synonymous_variant	1041/5625	360/1917	120/638	T	acC/acT	rs773968350,COSM195964,COSM195965,COSM5122854	1		-1	KCNC2	HGNC	HGNC:6234	protein_coding	YES	CCDS9007.1	ENSP00000449253	Q96PR1	A0A024RBA5	UPI000004DB9B	NM_139137.3			2/5		Gene3D:3.30.710.10,Pfam_domain:PF02214,Prints_domain:PR00169,Prints_domain:PR01498,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF157,SMART_domains:SM00225,Superfamily_domains:SSF54695											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs773968350	.												A	2	1	50	75207624	75207624	G	A	1	0	0	0	0	0	0	0	1	7931	1103	39	1		1	KCNC2	12	75207624	Silent	SNP	G	C3N-00547_TP	2588735	75207624	58067685	474	15935											
TMTC2	0	.	GRCh38	chr12	83061813	83061813	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagtattatgatctggcAgccaggctgaggcctaatgt	11	10	13	7	0	1	3	0	2	1	1	1	4	1	3	2	3	1	3	2	3	4	3	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.2313A>C	p.=	p.A771A	ENST00000321196	11/12	122	103	19	130	130	0	strelka-varscan-mutect	TMTC2,synonymous_variant,p.=,ENST00000549919,;TMTC2,synonymous_variant,p.=,ENST00000321196,NM_152588.1;TMTC2,3_prime_UTR_variant,,ENST00000546590,NM_001320321.1;	C	ENST00000321196	Transcript	synonymous_variant	3020/5681	2313/2511	771/836	A	gcA/gcC		1		1	TMTC2	HGNC	HGNC:25440	protein_coding	YES	CCDS9025.1	ENSP00000322300	Q8N394		UPI0000073F0F	NM_152588.1			11/12		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF390,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452																	LOW	1	SNV	1			1										PASS		rs904546549	.												C	2	2	50	83061813	83061813	A	C	1	0	0	0	0	0	0	0	1	16735	175	7	5		5	TMTC2	12	83061813	Silent	SNP	A	C3N-00547_TP	7854189	83061813	50213496	475	15936											
SLC6A15	0	.	GRCh38	chr12	84861772	84861772	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaaatttggagatggcaTctcgctcggtatttttccgt	9	14	9	9	3	1	1	0	0	1	1	4	2	2	1	2	3	0	3	2	3	3	4	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.2053A>T	p.Met685Leu	p.M685L	ENST00000266682	12/12	162	140	22	156	155	1	strelka-varscan-mutect	SLC6A15,missense_variant,p.Met685Leu,ENST00000266682,NM_182767.5;SLC6A15,missense_variant,p.Met578Leu,ENST00000552192,NM_001146335.2;SLC6A15,3_prime_UTR_variant,,ENST00000309283,;SLC6A15,non_coding_transcript_exon_variant,,ENST00000548267,;	A	ENST00000266682	Transcript	missense_variant	2595/4879	2053/2193	685/730	M/L	Atg/Ttg		1		-1	SLC6A15	HGNC	HGNC:13621	protein_coding	YES	CCDS9026.1	ENSP00000266682	Q9H2J7		UPI0000038BF2	NM_182767.5	tolerated(0.59)		12/12		hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	84861772	84861772	T	A	1	0	0	0	0	1	0	0	0	14961	1435	50	4		4	SLC6A15	12	84861772	Missense_Mutation	SNP	T	C3N-00547_TP	1799959	84861772	48413537	476	15937											
LRRIQ1	0	.	GRCh38	chr12	85047350	85047350	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattagaagataaagagaaAcaaactctcaaagctcagag	21	6	8	6	0	2	4	2	0	1	4	3	6	2	4	0	0	3	1	0	0	8	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.558A>T	p.Lys186Asn	p.K186N	ENST00000393217	6/27	202	171	31	236	236	0	strelka-varscan-mutect	LRRIQ1,missense_variant,p.Lys186Asn,ENST00000393217,NM_001079910.1;LRRIQ1,missense_variant,p.Lys84Asn,ENST00000533414,;LRRIQ1,downstream_gene_variant,,ENST00000393212,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000529408,;	T	ENST00000393217	Transcript	missense_variant	619/5394	558/5169	186/1722	K/N	aaA/aaT		1		1	LRRIQ1	HGNC	HGNC:25708	protein_coding	YES	CCDS41816.1	ENSP00000376910	Q96JM4	A0A140VJN5	UPI0000ED4E82	NM_001079910.1	tolerated(0.08)		6/27		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	85047350	85047350	A	T	1	0	0	0	0	1	0	0	0	8935	40	2	4		4	LRRIQ1	12	85047350	Missense_Mutation	SNP	A	C3N-00547_TP	185578	85047350	48227959	477	15938											
CEP290	0	.	GRCh38	chr12	88139193	88139193	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagtttttaattgattttcTatttttttaaaaaaaaagaa	16	21	3	1	0	1	2	0	1	1	1	1	2	1	2	0	0	0	1	0	0	9	12			C3N-00547_TP	C3N-00547_NB	T	T																c.251-2A>T		p.X84_splice	ENST00000552810		35	24	11	58	58	0	strelka-varscan-mutect	CEP290,splice_acceptor_variant,,ENST00000552810,NM_025114.3;CEP290,splice_acceptor_variant,,ENST00000309041,;CEP290,splice_acceptor_variant,,ENST00000397838,;CEP290,splice_acceptor_variant,,ENST00000552770,;CEP290,splice_acceptor_variant,,ENST00000550962,;TMTC3,upstream_gene_variant,,ENST00000266712,NM_181783.3;TMTC3,upstream_gene_variant,,ENST00000551088,;TMTC3,upstream_gene_variant,,ENST00000549011,;CEP290,splice_acceptor_variant,,ENST00000547926,;TMTC3,upstream_gene_variant,,ENST00000547034,;	A	ENST00000552810	Transcript	splice_acceptor_variant	-/7948	251/7440	84/2479			COSM4953722,COSM5349305	1		-1	CEP290	HGNC	HGNC:29021	protein_coding	YES	CCDS55858.1	ENSP00000448012	O15078		UPI0000D60D15	NM_025114.3				4/53												1,1						HIGH	1	SNV	1		1,1	1										PASS		rs951979448	.												A	5	1	50	88139193	88139193	T	A	1	0	0	0	0	0	0	1	0	2969	1536	53	4		4	CEP290	12	88139193	Splice_Site	SNP	T	C3N-00547_TP	3091843	88139193	45136116	478	15939											
UHRF1BP1L	0	.	GRCh38	chr12	100058827	100058827	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtagtgattaatctgcAtactgacatgtttatgaaca	13	14	8	6	0	1	3	0	3	1	0	1	3	1	3	0	1	3	3	0	1	5	5	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.2450T>A	p.Met817Lys	p.M817K	ENST00000279907	14/21	229	150	79	271	271	0	strelka-varscan-mutect	UHRF1BP1L,missense_variant,p.Met817Lys,ENST00000279907,NM_015054.1;UHRF1BP1L,missense_variant,p.Met467Lys,ENST00000545232,;	T	ENST00000279907	Transcript	missense_variant	2663/5168	2450/4395	817/1464	M/K	aTg/aAg		1		-1	UHRF1BP1L	HGNC	HGNC:29102	protein_coding	YES	CCDS31882.1	ENSP00000279907	A0JNW5		UPI0000160563	NM_015054.1	deleterious(0.02)		14/21		hmmpanther:PTHR22774,hmmpanther:PTHR22774:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	100058827	100058827	A	T	1	0	0	0	0	1	0	0	0	17493	217	8	4		4	UHRF1BP1L	12	100058827	Missense_Mutation	SNP	A	C3N-00547_TP	11919634	100058827	33216482	479	15940											
GAS2L3	0	.	GRCh38	chr12	100624647	100624647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccgtaccccactgtcCatcgtgagcctaccccagtc	6	8	8	19	2	0	1	0	1	0	0	3	1	1	1	8	1	3	1	8	1	2	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1842C>T	p.=	p.S614S	ENST00000547754	10/10	309	252	57	257	257	0	strelka-varscan-mutect	GAS2L3,synonymous_variant,p.=,ENST00000537247,NM_001303131.1;GAS2L3,synonymous_variant,p.=,ENST00000547754,NM_174942.2;GAS2L3,synonymous_variant,p.=,ENST00000539410,;GAS2L3,synonymous_variant,p.=,ENST00000266754,NM_001303130.1;GAS2L3,synonymous_variant,p.=,ENST00000552854,;	T	ENST00000547754	Transcript	synonymous_variant	2068/2340	1842/2085	614/694	S	tcC/tcT		1		1	GAS2L3	HGNC	HGNC:27475	protein_coding	YES	CCDS9079.1	ENSP00000448955	Q86XJ1	A0A024RBF4	UPI000000DA3B	NM_174942.2			10/10		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF256																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	100624647	100624647	C	T	1	0	0	0	0	0	0	0	1	6118	581	21	3		3	GAS2L3	12	100624647	Silent	SNP	C	C3N-00547_TP	565820	100624647	32650662	480	15941											
STAB2	0	.	GRCh38	chr12	103670739	103670739	+	Frame_Shift_Del	DEL	A	A	-																															cgggacatgcatttgtgaggAgggcttccaaggctcccagt																								novel		C3N-00547_TP	C3N-00547_NB	A	A																c.2303delA	p.Glu768GlyfsTer36	p.E768Gfs*36	ENST00000388887	22/69	259	177	82	271	271	0	sindel-varindel-pindel	STAB2,frameshift_variant,p.Glu768GlyfsTer36,ENST00000388887,NM_017564.9;RP11-341G23.3,upstream_gene_variant,,ENST00000550175,;	-	ENST00000388887	Transcript	frameshift_variant	2507/8251	2303/7656	768/2551	E/X	gAg/gg		1		1	STAB2	HGNC	HGNC:18629	protein_coding	YES	CCDS31888.1	ENSP00000373539	Q8WWQ8		UPI00001ADDF4	NM_017564.9			22/69		PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00179																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	50	103670739	103670739	A	-	1	0	1	0	1	0	0	0	0	15616	304	11	0		0	STAB2	12	103670739	Frame_Shift_Del	DEL	A	C3N-00547_TP	3046092	103670739	29604570	481	15942											
ACACB	0	.	GRCh38	chr12	109166864	109166864	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattcttattctgcaggccGagcatgtcgggactccacct	7	12	9	13	2	3	0	1	0	2	0	5	2	4	1	3	2	2	2	3	2	1	3	rs145288622		C3N-00547_TP	C3N-00547_NB	G	G																c.657G>T	p.=	p.P219P	ENST00000338432	3/53	310	194	116	329	329	0	strelka-varscan-mutect	ACACB,synonymous_variant,p.=,ENST00000338432,;ACACB,synonymous_variant,p.=,ENST00000377848,NM_001093.3;ACACB,synonymous_variant,p.=,ENST00000544726,;ACACB,5_prime_UTR_variant,,ENST00000377854,;ACACB,non_coding_transcript_exon_variant,,ENST00000546328,;	T	ENST00000338432	Transcript	synonymous_variant	776/9360	657/7377	219/2458	P	ccG/ccT	rs145288622	1		1	ACACB	HGNC	HGNC:85	protein_coding	YES	CCDS31898.1	ENSP00000341044	O00763		UPI0000DBEEFB				3/53		hmmpanther:PTHR18866:SF94,hmmpanther:PTHR18866																	LOW	1	SNV	1			1										PASS		rs145288622	.												T	2	4	50	109166864	109166864	G	T	1	0	0	0	0	0	0	0	1	150	1072	37	1		1	ACACB	12	109166864	Silent	SNP	G	C3N-00547_TP	5496125	109166864	24108445	482	15943											
RPLP0	0	.	GRCh38	chr12	120196776	120196776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgctttttggtgattaGtcaaagagaccaaatcccat	11	14	9	7	0	1	2	1	1	0	1	2	3	2	2	2	2	1	2	2	2	3	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.951C>G	p.Asp317Glu	p.D317E	ENST00000551150	7/7	43	30	13	26	26	0	strelka-varscan-mutect	RPLP0,missense_variant,p.Asp317Glu,ENST00000551150,;RPLP0,missense_variant,p.Asp317Glu,ENST00000228306,NM_053275.3;RPLP0,missense_variant,p.Asp317Glu,ENST00000392514,NM_001002.3;RPLP0,missense_variant,p.Asp281Glu,ENST00000546989,;RPLP0,missense_variant,p.Asp255Glu,ENST00000313104,;RPLP0,missense_variant,p.Asp107Glu,ENST00000552292,;GCN1,upstream_gene_variant,,ENST00000300648,NM_006836.1;RPLP0,downstream_gene_variant,,ENST00000550856,;RPLP0,downstream_gene_variant,,ENST00000547211,;RPLP0,downstream_gene_variant,,ENST00000546990,;RPLP0,downstream_gene_variant,,ENST00000547191,;RPLP0,downstream_gene_variant,,ENST00000550423,;RPLP0,downstream_gene_variant,,ENST00000551914,;PXN-AS1,upstream_gene_variant,,ENST00000535200,;PXN-AS1,upstream_gene_variant,,ENST00000542265,;PXN-AS1,upstream_gene_variant,,ENST00000539446,;PXN-AS1,upstream_gene_variant,,ENST00000542314,;PXN-AS1,upstream_gene_variant,,ENST00000538804,;RPLP0,downstream_gene_variant,,ENST00000550296,;RPLP0,downstream_gene_variant,,ENST00000551336,;RPLP0,3_prime_UTR_variant,,ENST00000549098,;RPLP0,non_coding_transcript_exon_variant,,ENST00000552461,;RPLP0,non_coding_transcript_exon_variant,,ENST00000551217,;RPLP0,downstream_gene_variant,,ENST00000548568,;RPLP0,downstream_gene_variant,,ENST00000551258,;RPLP0,downstream_gene_variant,,ENST00000552902,;RPLP0,downstream_gene_variant,,ENST00000547173,;RPLP0,downstream_gene_variant,,ENST00000546564,;RPLP0,downstream_gene_variant,,ENST00000547475,;RPLP0,downstream_gene_variant,,ENST00000551783,;RPLP0,downstream_gene_variant,,ENST00000548495,;RPLP0,downstream_gene_variant,,ENST00000548551,;RPLP0,downstream_gene_variant,,ENST00000549242,;	C	ENST00000551150	Transcript	missense_variant	1267/1344	951/954	317/317	D/E	gaC/gaG		1		-1	RPLP0	HGNC	HGNC:10371	protein_coding	YES	CCDS9193.1	ENSP00000449328	P05388	A0A024RBS2	UPI0000134221		deleterious(0.03)		7/7		PIRSF_domain:PIRSF039087,hmmpanther:PTHR21141,hmmpanther:PTHR21141:SF49																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	120196776	120196776	G	C	1	0	0	0	0	1	0	0	0	13857	1020	36	4		4	RPLP0	12	120196776	Missense_Mutation	SNP	G	C3N-00547_TP	11029912	120196776	13078533	483	15944											
PLA2G1B	0	.	GRCh38	chr12	120325032	120325032	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagcttcttggcctggTcatagcagttgtcatgtgtc	5	15	11	10	0	3	0	2	0	1	0	5	0	4	0	2	2	2	3	2	2	1	4	rs774834157		C3N-00547_TP	C3N-00547_NB	T	T																c.224A>G	p.Asp75Gly	p.D75G	ENST00000308366	3/4	274	258	16	210	210	0	strelka-varscan-mutect	PLA2G1B,missense_variant,p.Asp75Gly,ENST00000308366,NM_000928.2;PLA2G1B,missense_variant,p.Asp46Gly,ENST00000549767,;PLA2G1B,intron_variant,,ENST00000423423,;	C	ENST00000308366	Transcript	missense_variant	260/565	224/447	75/148	D/G	gAc/gGc	rs774834157	1		-1	PLA2G1B	HGNC	HGNC:9030	protein_coding	YES	CCDS9195.1	ENSP00000312286	P04054		UPI0000048FD9	NM_000928.2	tolerated(0.29)		3/4		hmmpanther:PTHR11716,Pfam_domain:PF00068,Gene3D:1.20.90.10,SMART_domains:SM00085,Superfamily_domains:SSF48619,Prints_domain:PR00389																	MODERATE	1	SNV	1			1										PASS		rs774834157	.												C	3	2	50	120325032	120325032	T	C	1	0	0	0	0	1	0	0	0	12090	1667	58	5		5	PLA2G1B	12	120325032	Missense_Mutation	SNP	T	C3N-00547_TP	128256	120325032	12950277	484	15945											
TMEM132D	0	.	GRCh38	chr12	129700195	129700195	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacaggagctccagctCggccacgcacagccccaggt	8	4	13	16	2	0	0	0	0	0	0	2	2	1	2	4	4	3	4	4	4	0	0			C3N-00547_TP	C3N-00547_NB	C	C																c.583G>T	p.Glu195Ter	p.E195*	ENST00000422113	2/9	218	148	70	236	236	0	strelka-varscan-mutect	TMEM132D,stop_gained,p.Glu195Ter,ENST00000422113,NM_133448.2;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	A	ENST00000422113	Transcript	stop_gained	910/5776	583/3300	195/1099	E/*	Gag/Tag	COSM4553206	1		-1	TMEM132D	HGNC	HGNC:29411	protein_coding	YES	CCDS9266.1	ENSP00000408581	Q14C87		UPI000023759C	NM_133448.2			2/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF2											1						HIGH	1	SNV	1		1	1										PASS		rs994058307	.												A	4	1	50	129700195	129700195	C	A	1	0	0	0	0	0	1	0	0	16492	893	31	1		1	TMEM132D	12	129700195	Nonsense_Mutation	SNP	C	C3N-00547_TP	9375163	129700195	3575114	485	15946											
COG3	0	.	GRCh38	chr13	45511797	45511797	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggattatcacaggaagcAttgtctgcctgcattcagtc	11	11	9	10	0	3	0	2	0	1	0	4	2	3	2	1	2	3	2	1	2	3	3	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1752A>G	p.=	p.A584A	ENST00000349995	16/23	154	120	34	156	156	0	strelka-varscan-mutect	COG3,synonymous_variant,p.=,ENST00000349995,NM_031431.3;COG3,non_coding_transcript_exon_variant,,ENST00000465942,;COG3,upstream_gene_variant,,ENST00000486940,;	G	ENST00000349995	Transcript	synonymous_variant	1864/4498	1752/2487	584/828	A	gcA/gcG		1		1	COG3	HGNC	HGNC:18619	protein_coding	YES	CCDS9398.1	ENSP00000258654	Q96JB2		UPI0000366968	NM_031431.3			16/23		hmmpanther:PTHR13302																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	50	45511797	45511797	A	G	1	0	0	0	0	0	0	0	1	3447	204	8	5		5	COG3	13	45511797	Silent	SNP	A	C3N-00547_TP		45511797	68852531	486	15947											
PCDH20	0	.	GRCh38	chr13	61412551	61412551	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttaatgacccttttgacAtgaaatccctcagagttcca	12	13	5	11	0	1	4	1	3	0	1	3	4	3	4	3	0	0	1	3	0	2	5	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1548T>G	p.His516Gln	p.H516Q	ENST00000409186	5/5	247	224	23	273	273	0	strelka-varscan-mutect	RP11-310K10.1,missense_variant,p.His516Gln,ENST00000409186,;PCDH20,missense_variant,p.His516Gln,ENST00000409204,NM_022843.3;	C	ENST00000409186	Transcript	missense_variant	3654/6347	1548/2856	516/951	H/Q	caT/caG		1		-1	RP11-310K10.1	Clone_based_vega_gene		protein_coding	YES	CCDS9442.2	ENSP00000386653			UPI000007371F		tolerated(0.25)		5/5		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	61412551	61412551	A	C	1	0	0	0	0	1	0	0	0	11602	214	8	5		5	PCDH20	13	61412551	Missense_Mutation	SNP	A	C3N-00547_TP	15900754	61412551	52951777	487	15948											
FGF14	0	.	GRCh38	chr13	101916537	101916537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgccgttgcagagcccgcGgttcttgctggggctgctcc	2	11	15	13	3	1	1	0	0	1	1	2	1	2	1	3	3	5	7	3	3	0	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.109C>A	p.Arg37Ser	p.R37S	ENST00000376143	1/5	211	158	53	278	278	0	strelka-varscan-mutect	FGF14,missense_variant,p.Arg37Ser,ENST00000376143,NM_004115.3;FGF14,intron_variant,,ENST00000376131,NM_175929.2;	T	ENST00000376143	Transcript	missense_variant	109/744	109/744	37/247	R/S	Cgc/Agc		1		-1	FGF14	HGNC	HGNC:3671	protein_coding		CCDS9501.1	ENSP00000365313	Q92915		UPI000003C0F2	NM_004115.3	deleterious(0.01)		1/5		hmmpanther:PTHR11486:SF18,hmmpanther:PTHR11486																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	50	101916537	101916537	G	T	1	0	0	0	0	1	0	0	0	5707	1116	39	1		1	FGF14	13	101916537	Missense_Mutation	SNP	G	C3N-00547_TP	40503986	101916537	12447791	488	15949											
RASA3	0	.	GRCh38	chr13	114029811	114029811	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtgaggacgtgtcttacCgtgtggcgagcttgtggcag	6	11	16	8	3	1	1	0	1	1	0	1	3	1	2	1	3	2	2	1	3	2	3	rs374146859		C3N-00547_TP	C3N-00547_NB	C	C																c.449G>C	p.Arg150Pro	p.R150P	ENST00000334062	5/24	261	127	134	247	247	0	strelka-varscan-mutect	RASA3,missense_variant,p.Arg150Pro,ENST00000334062,NM_001320822.1,NM_007368.2;RASA3,splice_region_variant,,ENST00000542651,;	G	ENST00000334062	Transcript	missense_variant,splice_region_variant	571/4191	449/2505	150/834	R/P	cGc/cCc	rs374146859	1		-1	RASA3	HGNC	HGNC:20331	protein_coding	YES	CCDS32016.1	ENSP00000335029	Q14644		UPI000000DBC1	NM_001320822.1,NM_007368.2	deleterious(0.01)		5/24		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF53,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		rs374146859	.												G	3	3	50	114029811	114029811	C	G	1	0	0	0	0	1	0	0	0	13221	666	23	4		4	RASA3	13	114029811	Missense_Mutation	SNP	C	C3N-00547_TP	12113274	114029811	334517	489	15950											
POTEG	0	.	GRCh38	chr14	19434216	19434216	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcagtggcggcaccacttgCccatcttgcttctgagacca	8	9	10	14	1	2	1	0	1	2	1	2	2	2	1	3	2	3	3	3	2	0	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.74G>C	p.Gly25Ala	p.G25A	ENST00000547848	1/11	651	553	98	623	623	0	strelka-varscan-mutect	POTEG,missense_variant,p.Gly25Ala,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Gly25Ala,ENST00000547722,;POTEG,missense_variant,p.Gly25Ala,ENST00000622767,;	G	ENST00000547848	Transcript	missense_variant	126/2204	74/1527	25/508	G/A	gGc/gCc		1		-1	POTEG	HGNC	HGNC:33896	protein_coding	YES	CCDS73610.1	ENSP00000450853	Q6S5H5		UPI00004443FE	NM_001005356.2	deleterious_low_confidence(0.03)		1/11																			MODERATE	1	SNV	1			1										PASS		rs1321216290	.												G	3	3	50	19434216	19434216	C	G	1	0	0	0	0	1	0	0	0	12380	739	26	4		4	POTEG	14	19434216	Missense_Mutation	SNP	C	C3N-00547_TP		19434216	87609502	490	15951											
POTEG	0	.	GRCh38	chr14	19434284	19434284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgaaccagcctcagcCaccatctgcttttaacagcc	10	9	7	15	0	2	1	1	1	1	0	2	1	2	1	5	1	6	2	5	1	2	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.6G>A	p.=	p.V2V	ENST00000547848	1/11	305	258	47	315	315	0	strelka-varscan-mutect	POTEG,synonymous_variant,p.=,ENST00000547848,NM_001005356.2;POTEG,synonymous_variant,p.=,ENST00000547722,;POTEG,synonymous_variant,p.=,ENST00000622767,;	T	ENST00000547848	Transcript	synonymous_variant	58/2204	6/1527	2/508	V	gtG/gtA		1		-1	POTEG	HGNC	HGNC:33896	protein_coding	YES	CCDS73610.1	ENSP00000450853	Q6S5H5		UPI00004443FE	NM_001005356.2			1/11																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	19434284	19434284	C	T	1	0	0	0	0	0	0	0	1	12380	581	21	3		3	POTEG	14	19434284	Silent	SNP	C	C3N-00547_TP	68	19434284	87609434	491	15952											
OR11H2	0	.	GRCh38	chr14	19712936	19712936	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggaataatctaatatgccTtagattatgttggaactccc	13	13	8	7	0	1	1	0	0	1	1	2	4	2	3	2	2	2	1	2	2	7	6	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.981A>T	p.Ter327TyrextTer?	p.*327Yext*?	ENST00000556246	1/1	120	90	30	152	152	0	strelka-varscan-mutect	OR11H2,stop_lost,p.Ter327TyrextTer?,ENST00000556246,NM_001197287.1;	A	ENST00000556246	Transcript	stop_lost	985/985	981/981	327/326	*/Y	taA/taT		1		-1	OR11H2	HGNC	HGNC:14716	protein_coding	YES	CCDS76655.1	ENSP00000485150	Q8NH07		UPI0000061EAC	NM_001197287.1			1/1																			HIGH	1	SNV				1										PASS		.	.												A	4	1	50	19712936	19712936	T	A	1	0	0	0	0	0	0	0	0	11004	1623	56	4		4	OR11H2	14	19712936	Nonstop_Mutation	SNP	T	C3N-00547_TP	278652	19712936	87330782	492	15953											
OR11G2	0	.	GRCh38	chr14	20197618	20197618	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggatcagagactccacGcccccatgtacatcctgctc	9	8	8	16	1	1	1	1	0	0	1	4	3	3	2	4	1	2	2	4	1	1	1	rs562872648		C3N-00547_TP	C3N-00547_NB	G	G																c.283G>T	p.Ala95Ser	p.A95S	ENST00000357366	1/1	208	186	22	211	211	0	strelka-varscan-mutect	OR11G2,missense_variant,p.Ala95Ser,ENST00000357366,NM_001005503.1;	T	ENST00000357366	Transcript	missense_variant	283/1111	283/1038	95/345	A/S	Gcc/Tcc	rs562872648,COSM2028735	1		1	OR11G2	HGNC	HGNC:15346	protein_coding	YES	CCDS32032.1	ENSP00000349930	Q8NGC1		UPI000015F241	NM_001005503.1	deleterious(0.02)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF183,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs562872648	.												T	3	4	50	20197618	20197618	G	T	1	0	0	0	0	1	0	0	0	11001	1087	38	1		1	OR11G2	14	20197618	Missense_Mutation	SNP	G	C3N-00547_TP	484682	20197618	86846100	493	15954											
OR11H4	0	.	GRCh38	chr14	20243219	20243219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccacccactgcagtaccCtgccatcatgactgtaaggt	9	9	8	15	0	1	1	1	1	0	0	1	1	1	1	4	1	4	3	4	1	2	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.428C>A	p.Pro143His	p.P143H	ENST00000315409	1/1	208	131	77	177	177	0	strelka-varscan-mutect	OR11H4,missense_variant,p.Pro143His,ENST00000315409,NM_001004479.1;	A	ENST00000315409	Transcript	missense_variant	481/1082	428/975	143/324	P/H	cCt/cAt		1		1	OR11H4	HGNC	HGNC:15347	protein_coding	YES	CCDS32034.1	ENSP00000318997	Q8NGC9	A0A126GW19	UPI0000041C42	NM_001004479.1	deleterious(0.02)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF99,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs1473234021	.												A	3	1	50	20243219	20243219	C	A	1	0	0	0	0	1	0	0	0	11005	681	24	2		2	OR11H4	14	20243219	Missense_Mutation	SNP	C	C3N-00547_TP	45601	20243219	86800499	494	15955											
TEP1	0	.	GRCh38	chr14	20384147	20384147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgtggccgggcaggaCtcggtggcttctgcagctgc	5	7	18	11	3	1	0	0	0	1	0	2	2	1	1	1	6	3	4	1	6	1	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.3425G>T	p.Ser1142Ile	p.S1142I	ENST00000262715	24/55	182	154	28	236	236	0	strelka-varscan-mutect	TEP1,missense_variant,p.Ser1142Ile,ENST00000262715,NM_007110.4;TEP1,missense_variant,p.Ser1034Ile,ENST00000556935,;TEP1,missense_variant,p.Ser1142Ile,ENST00000555727,;TEP1,missense_variant,p.Ser492Ile,ENST00000555008,;TEP1,upstream_gene_variant,,ENST00000557314,;	A	ENST00000262715	Transcript	missense_variant	3466/10695	3425/7884	1142/2627	S/I	aGt/aTt		1		-1	TEP1	HGNC	HGNC:11726	protein_coding	YES	CCDS9548.1	ENSP00000262715	Q99973		UPI000013D30B	NM_007110.4	tolerated(0.16)		24/55																			MODERATE	1	SNV	1			1										PASS		rs1214862790	.												A	3	1	50	20384147	20384147	C	A	1	0	0	0	0	1	0	0	0	16175	565	20	2		2	TEP1	14	20384147	Missense_Mutation	SNP	C	C3N-00547_TP	140928	20384147	86659571	495	15956											
TEP1	0	.	GRCh38	chr14	20395893	20395893	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcctcgagggcatcaatGgcatcatgggcgttaagaaa	12	8	13	8	2	2	2	2	1	0	1	3	3	2	2	1	3	1	3	1	3	3	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1716C>T	p.=	p.A572A	ENST00000262715	11/55	116	105	11	108	108	0	strelka-varscan-mutect	TEP1,synonymous_variant,p.=,ENST00000262715,NM_007110.4;TEP1,synonymous_variant,p.=,ENST00000556935,;TEP1,synonymous_variant,p.=,ENST00000555727,;TEP1,upstream_gene_variant,,ENST00000555008,;TEP1,downstream_gene_variant,,ENST00000557627,;	A	ENST00000262715	Transcript	synonymous_variant	1757/10695	1716/7884	572/2627	A	gcC/gcT		1		-1	TEP1	HGNC	HGNC:11726	protein_coding	YES	CCDS9548.1	ENSP00000262715	Q99973		UPI000013D30B	NM_007110.4			11/55		PROSITE_profiles:PS50988,Pfam_domain:PF05731,Superfamily_domains:0051422																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	20395893	20395893	G	A	1	0	0	0	0	0	0	0	1	16175	1335	47	3		3	TEP1	14	20395893	Silent	SNP	G	C3N-00547_TP	11746	20395893	86647825	496	15957											
IL25	0	.	GRCh38	chr14	23375853	23375853	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtttccttagcttgtgtGtgtgtgcggccccgtgtgat	2	16	14	9	3	0	1	0	1	0	0	1	1	1	1	3	1	2	2	3	1	1	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.507G>A	p.=	p.V169V	ENST00000329715	2/2	177	112	65	179	179	0	strelka-varscan-mutect	IL25,synonymous_variant,p.=,ENST00000329715,NM_022789.3;IL25,synonymous_variant,p.=,ENST00000397242,NM_172314.1;CMTM5,upstream_gene_variant,,ENST00000359320,NM_138460.2;CMTM5,upstream_gene_variant,,ENST00000339180,NM_001288746.1;CMTM5,upstream_gene_variant,,ENST00000555731,;CMTM5,upstream_gene_variant,,ENST00000397227,NM_001288744.1;CMTM5,upstream_gene_variant,,ENST00000342473,NM_001288745.1;CMTM5,upstream_gene_variant,,ENST00000382809,NM_001037288.1;CMTM5,upstream_gene_variant,,ENST00000553750,;CMTM5,upstream_gene_variant,,ENST00000555487,;	A	ENST00000329715	Transcript	synonymous_variant	765/1315	507/534	169/177	V	gtG/gtA		1		1	IL25	HGNC	HGNC:13765	protein_coding	YES	CCDS9597.1	ENSP00000328111	Q9H293		UPI0000038A0A	NM_022789.3			2/2		hmmpanther:PTHR21295,hmmpanther:PTHR21295:SF7,Gene3D:2.10.90.10,Pfam_domain:PF06083,Superfamily_domains:SSF57501																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	23375853	23375853	G	A	1	0	0	0	0	0	0	0	1	7581	1364	48	3		3	IL25	14	23375853	Silent	SNP	G	C3N-00547_TP	2979960	23375853	83667865	497	15958											
NYNRIN	0	.	GRCh38	chr14	24408030	24408030	+	Frame_Shift_Del	DEL	G	G	-																															ccccctggctccctgatggtGggcgggctgactgagtcttt																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.362delG	p.Gly121AlafsTer3	p.G121Afs*3	ENST00000382554	3/9	236	182	54	236	236	0	sindel-varindel-pindel	NYNRIN,frameshift_variant,p.Gly121AlafsTer3,ENST00000382554,NM_025081.2;NYNRIN,upstream_gene_variant,,ENST00000554505,;	-	ENST00000382554	Transcript	frameshift_variant	678/7857	360/5697	120/1898	V/X	gtG/gt		1		1	NYNRIN	HGNC	HGNC:20165	protein_coding	YES	CCDS45090.1	ENSP00000371994	Q9P2P1		UPI0000251E63	NM_025081.2			3/9		hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2																	HIGH	1	deletion	5	2		1										PASS		.	.												-	7	5	50	24408030	24408030	G	-	1	0	1	0	1	0	0	0	0	10874	1335	47	0		0	NYNRIN	14	24408030	Frame_Shift_Del	DEL	G	C3N-00547_TP	1032177	24408030	82635688	498	15959											
CTSG	0	.	GRCh38	chr14	24573643	24573643	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaagaagagtcagtcacagGggggtctccatctgatccag	12	7	13	9	0	4	4	2	1	2	3	6	4	5	4	2	3	0	0	2	3	2	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.762C>A	p.=	p.P254P	ENST00000216336	5/5	121	96	25	127	127	0	strelka-varscan-mutect	CTSG,synonymous_variant,p.=,ENST00000216336,NM_001911.2;CTSG,non_coding_transcript_exon_variant,,ENST00000552252,;	T	ENST00000216336	Transcript	synonymous_variant	799/886	762/768	254/255	P	ccC/ccA		1		-1	CTSG	HGNC	HGNC:2532	protein_coding	YES	CCDS9631.1	ENSP00000216336	P08311		UPI00001270AC	NM_001911.2			5/5		hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF13																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	24573643	24573643	G	T	1	0	0	0	0	0	0	0	1	3844	1219	43	2		2	CTSG	14	24573643	Silent	SNP	G	C3N-00547_TP	165613	24573643	82470075	499	15960											
NOVA1	0	.	GRCh38	chr14	26448223	26448223	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatttcaactacatccttGgatccatctgtggacttttc	8	16	6	11	0	2	0	1	0	1	0	5	2	4	2	2	2	2	1	2	2	3	6	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1260C>A	p.=	p.S420S	ENST00000539517	5/5	369	279	90	330	330	0	strelka-varscan-mutect	NOVA1,synonymous_variant,p.=,ENST00000539517,NM_002515.2;NOVA1,synonymous_variant,p.=,ENST00000465357,NM_006489.2;NOVA1,downstream_gene_variant,,ENST00000549571,;NOVA1,downstream_gene_variant,,ENST00000449198,;NOVA1,downstream_gene_variant,,ENST00000549146,;NOVA1,downstream_gene_variant,,ENST00000347476,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,downstream_gene_variant,,ENST00000546546,;	T	ENST00000539517	Transcript	synonymous_variant	1578/3912	1260/1524	420/507	S	tcC/tcA		1		-1	NOVA1	HGNC	HGNC:7886	protein_coding	YES	CCDS32061.1	ENSP00000438875	P51513		UPI000013D74E	NM_002515.2			5/5		hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF150,SMART_domains:SM00322																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	26448223	26448223	G	T	1	0	0	0	0	0	0	0	1	10600	1335	47	2		2	NOVA1	14	26448223	Silent	SNP	G	C3N-00547_TP	1874580	26448223	80595495	500	15961											
NOVA1	0	.	GRCh38	chr14	26480127	26480127	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgttccctggatcaagcaCactcgctcagtagtacctgt	9	10	8	14	2	2	0	2	0	0	0	4	1	3	1	3	1	2	5	3	1	3	3	rs747905882		C3N-00547_TP	C3N-00547_NB	C	C																c.297G>T	p.=	p.V99V	ENST00000539517	3/5	100	61	39	102	102	0	strelka-varscan-mutect	NOVA1,synonymous_variant,p.=,ENST00000539517,NM_002515.2;NOVA1,synonymous_variant,p.=,ENST00000465357,NM_006489.2;NOVA1,synonymous_variant,p.=,ENST00000574031,;NOVA1,synonymous_variant,p.=,ENST00000549571,;NOVA1,synonymous_variant,p.=,ENST00000449198,;NOVA1,synonymous_variant,p.=,ENST00000547619,;NOVA1,synonymous_variant,p.=,ENST00000344429,NM_006491.2;NOVA1,5_prime_UTR_variant,,ENST00000549146,;NOVA1,5_prime_UTR_variant,,ENST00000347476,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,3_prime_UTR_variant,,ENST00000546546,;	A	ENST00000539517	Transcript	synonymous_variant	615/3912	297/1524	99/507	V	gtG/gtT	rs747905882	1		-1	NOVA1	HGNC	HGNC:7886	protein_coding	YES	CCDS32061.1	ENSP00000438875	P51513		UPI000013D74E	NM_002515.2			3/5		PROSITE_profiles:PS50084,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF150,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791																	LOW	1	SNV	1			1										PASS		rs747905882	.												A	2	1	50	26480127	26480127	C	A	1	0	0	0	0	0	0	0	1	10600	465	17	2		2	NOVA1	14	26480127	Silent	SNP	C	C3N-00547_TP	31904	26480127	80563591	501	15962											
MIA2	0	.	GRCh38	chr14	39247519	39247519	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttggtggaggatttacAagttatttaggttttggaga	9	17	14	1	0	0	1	0	0	0	1	0	4	0	3	0	6	1	3	0	6	4	8	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.945A>T	p.=	p.T315T	ENST00000553728	4/28	116	101	15	151	150	1	strelka-varscan-mutect	RP11-407N17.3,synonymous_variant,p.=,ENST00000553728,;MIA2,synonymous_variant,p.=,ENST00000280082,NM_054024.3;MIA2,non_coding_transcript_exon_variant,,ENST00000556784,;	T	ENST00000553728	Transcript	synonymous_variant	1158/4392	945/4020	315/1339	T	acA/acT		1		1	RP11-407N17.3	Clone_based_vega_gene		protein_coding	YES		ENSP00000452252		G3V599	UPI00021CF1EF				4/28		hmmpanther:PTHR23158:SF38,hmmpanther:PTHR23158																	LOW		SNV	5			1										PASS		.	.												T	2	4	50	39247519	39247519	A	T	1	0	0	0	0	0	0	0	1	9521	117	5	4		4	MIA2	14	39247519	Silent	SNP	A	C3N-00547_TP	12767392	39247519	67796199	502	15963											
NIN	0	.	GRCh38	chr14	50757023	50757023	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctggaccacgctttccTgaagcttctcaatcttgcct	7	12	7	15	2	2	1	1	1	2	0	4	2	3	2	4	1	2	3	4	1	2	3	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.4007A>T	p.Gln1336Leu	p.Q1336L	ENST00000382041	18/30	64	52	12	82	82	0	strelka-varscan-mutect	NIN,missense_variant,p.Gln1336Leu,ENST00000245441,NM_020921.3;NIN,missense_variant,p.Gln1336Leu,ENST00000530997,;NIN,missense_variant,p.Gln1336Leu,ENST00000453196,NM_182944.2;NIN,missense_variant,p.Gln1336Leu,ENST00000382041,NM_182946.1;NIN,missense_variant,p.Gln827Leu,ENST00000530853,;NIN,missense_variant,p.Gln827Leu,ENST00000389869,;NIN,intron_variant,,ENST00000324330,NM_016350.4;NIN,intron_variant,,ENST00000382043,;NIN,missense_variant,p.Gln1336Leu,ENST00000476352,;	A	ENST00000382041	Transcript	missense_variant	4198/6496	4007/6273	1336/2090	Q/L	cAg/cTg		1		-1	NIN	HGNC	HGNC:14906	protein_coding	YES	CCDS32079.1	ENSP00000371472	Q8N4C6		UPI0000DBEF14	NM_182946.1	tolerated(0.1)		18/30		hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	50757023	50757023	T	A	1	0	0	0	0	1	0	0	0	10452	1580	55	4		4	NIN	14	50757023	Missense_Mutation	SNP	T	C3N-00547_TP	11509504	50757023	56286695	503	15964											
TRIM9	0	.	GRCh38	chr14	51025321	51025321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaactccttggcttctttggCcctgtctgacagtccgttca	6	14	8	13	1	3	1	1	1	2	0	5	1	5	1	3	2	1	2	3	2	1	4			C3N-00547_TP	C3N-00547_NB	C	C																c.862G>T	p.Ala288Ser	p.A288S	ENST00000298355	2/10	263	182	81	240	240	0	strelka-varscan-mutect	TRIM9,missense_variant,p.Ala288Ser,ENST00000298355,NM_015163.5;TRIM9,missense_variant,p.Ala288Ser,ENST00000360392,NM_052978.4;TRIM9,missense_variant,p.Ala288Ser,ENST00000338969,;	A	ENST00000298355	Transcript	missense_variant	1984/5284	862/2133	288/710	A/S	Gcc/Tcc	COSM4952431,COSM4952432,COSM4952433	1		-1	TRIM9	HGNC	HGNC:16288	protein_coding	YES	CCDS9703.1	ENSP00000298355	Q9C026		UPI000006D630	NM_015163.5	deleterious(0.01)		2/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF400,SMART_domains:SM00502											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	50	51025321	51025321	C	A	1	0	0	0	0	1	0	0	0	17046	739	26	2		2	TRIM9	14	51025321	Missense_Mutation	SNP	C	C3N-00547_TP	268298	51025321	56018397	504	15965											
C14orf166	0	.	GRCh38	chr14	52004238	52004238	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattcttggttttgacacAggaggtaagtgattttgttt	9	18	10	4	0	1	2	0	2	1	0	1	3	1	3	0	3	0	3	0	3	2	9	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.576A>T	p.=	p.T192T	ENST00000261700	7/8	191	119	72	140	140	0	strelka-varscan-mutect	C14orf166,splice_acceptor_variant,,ENST00000556760,;C14orf166,synonymous_variant,p.=,ENST00000261700,NM_016039.2;C14orf166,intron_variant,,ENST00000553362,;NID2,downstream_gene_variant,,ENST00000216286,NM_007361.3;NID2,downstream_gene_variant,,ENST00000617139,;NID2,downstream_gene_variant,,ENST00000556572,;C14orf166,non_coding_transcript_exon_variant,,ENST00000553479,;NID2,downstream_gene_variant,,ENST00000556686,;C14orf166,downstream_gene_variant,,ENST00000553707,;NID2,downstream_gene_variant,,ENST00000553297,;NID2,downstream_gene_variant,,ENST00000555310,;C14orf166,downstream_gene_variant,,ENST00000555319,;C14orf166,downstream_gene_variant,,ENST00000557553,;	T	ENST00000261700	Transcript	synonymous_variant	741/7075	576/735	192/244	T	acA/acT		1		1	C14orf166	HGNC	HGNC:23169	protein_coding	YES	CCDS9705.1	ENSP00000261700	Q9Y224	Q549M8	UPI000012759D	NM_016039.2			7/8		hmmpanther:PTHR15924,Pfam_domain:PF10036																	LOW	1	SNV	1			1										PASS		rs1426719805	.												T	2	4	50	52004238	52004238	A	T	1	0	0	0	0	0	0	0	1	1831	202	7	4		4	C14orf166	14	52004238	Silent	SNP	A	C3N-00547_TP	978917	52004238	55039480	505	15966											
DDHD1	0	.	GRCh38	chr14	53152765	53152766	+	In_Frame_Ins	INS	-	-	GCCGCA																															tgcagcgacaaggagctgccINSgccgccgccgctctcaccct																								novel		C3N-00547_TP	C3N-00547_NB	-	-																c.333_334insTGCGGC	p.Gly111_Gly112insCysGly	p.G111_G112insCG	ENST00000323669	1/13	91	53	38	131	130	1	sindel-varindel-pindel	DDHD1,inframe_insertion,p.Gly111_Gly112insCysGly,ENST00000395606,NM_001160147.1;DDHD1,inframe_insertion,p.Gly111_Gly112insCysGly,ENST00000612692,;DDHD1,inframe_insertion,p.Gly111_Gly112insCysGly,ENST00000357758,NM_030637.2;DDHD1,inframe_insertion,p.Gly111_Gly112insCysGly,ENST00000323669,NM_001160148.1;DDHD1,upstream_gene_variant,,ENST00000556910,;RP11-547D23.1,upstream_gene_variant,,ENST00000554235,;DDHD1,upstream_gene_variant,,ENST00000557445,;	GCCGCA	ENST00000323669	Transcript	inframe_insertion	333-334/5503	333-334/2703	111-112/900	-/CG	-/TGCGGC		1		-1	DDHD1	HGNC	HGNC:19714	protein_coding	YES	CCDS53895.1	ENSP00000327104	Q8NEL9		UPI00001D7B55	NM_001160148.1			1/13		hmmpanther:PTHR23509,hmmpanther:PTHR23509:SF10,Low_complexity_(Seg):seg																	MODERATE	1	insertion	2			1										PASS		.	.												GCCGCA	7	5	50	53152765	53152765	-	GCCGCA	1	0	1	1	0	0	0	0	0	4129	652	23	0		0	DDHD1	14	53152765	In_Frame_Ins	INS	-	C3N-00547_TP	1148527	53152765	53890953	506	15967	343	2									
DDHD1	0	.	GRCh38	chr14	53152771	53152771	+	Missense_Mutation	SNP	C	C	A																															cgacaaggagctgccgccgcCgccgctctcaccctcgctgt																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.328G>T	p.Gly110Cys	p.G110C	ENST00000323669	1/13	116	109	7	167	167	0	varscan-mutect	DDHD1,missense_variant,p.Gly110Cys,ENST00000395606,NM_001160147.1;DDHD1,missense_variant,p.Gly110Cys,ENST00000612692,;DDHD1,missense_variant,p.Gly110Cys,ENST00000357758,NM_030637.2;DDHD1,missense_variant,p.Gly110Cys,ENST00000323669,NM_001160148.1;DDHD1,upstream_gene_variant,,ENST00000556910,;RP11-547D23.1,upstream_gene_variant,,ENST00000554235,;DDHD1,upstream_gene_variant,,ENST00000557445,;	A	ENST00000323669	Transcript	missense_variant	328/5503	328/2703	110/900	G/C	Ggc/Tgc		1		-1	DDHD1	HGNC	HGNC:19714	protein_coding	YES	CCDS53895.1	ENSP00000327104	Q8NEL9		UPI00001D7B55	NM_001160148.1	deleterious_low_confidence(0)		1/13		hmmpanther:PTHR23509,hmmpanther:PTHR23509:SF10,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		rs747912386	.												A	3	1	50	53152771	53152771	C	A	1	0	0	0	0	1	0	0	0	4129	652	23	1		1	DDHD1	14	53152771	Missense_Mutation	SNP	C	C3N-00547_TP	6	53152771	53890947	507	15968	343	2									
PELI2	0	.	GRCh38	chr14	56178407	56178407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctctacaagcggcccaaGgcaaatggtgtcaaacccag	12	5	10	14	1	2	0	1	0	1	0	2	0	2	0	3	3	3	1	3	3	5	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.150G>T	p.Lys50Asn	p.K50N	ENST00000267460	2/6	253	206	47	252	252	0	strelka-varscan-mutect	PELI2,missense_variant,p.Lys50Asn,ENST00000267460,NM_021255.2;PELI2,5_prime_UTR_variant,,ENST00000559044,;PELI2,5_prime_UTR_variant,,ENST00000561019,;	T	ENST00000267460	Transcript	missense_variant	436/5909	150/1263	50/420	K/N	aaG/aaT		1		1	PELI2	HGNC	HGNC:8828	protein_coding	YES	CCDS9726.1	ENSP00000267460	Q9HAT8		UPI0000062262	NM_021255.2	tolerated(0.52)		2/6		hmmpanther:PTHR12098,Pfam_domain:PF04710,PIRSF_domain:PIRSF038886																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	56178407	56178407	G	T	1	0	0	0	0	1	0	0	0	11810	991	35	2		2	PELI2	14	56178407	Missense_Mutation	SNP	G	C3N-00547_TP	3025636	56178407	50865311	508	15969											
CCDC175	0	.	GRCh38	chr14	59568298	59568298	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttcttcttcagaagctcTatttcattctctgtccttgt	6	21	4	10	0	6	1	2	0	4	1	8	1	7	1	1	0	1	1	1	0	2	8	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.438A>G	p.Ile146Met	p.I146M	ENST00000537690	4/20	120	103	17	131	131	0	strelka-varscan-mutect	CCDC175,missense_variant,p.Ile146Met,ENST00000537690,NM_001164399.1;CCDC175,missense_variant,p.Ile146Met,ENST00000281581,;CCDC175,upstream_gene_variant,,ENST00000556996,;CCDC175,upstream_gene_variant,,ENST00000556936,;	C	ENST00000537690	Transcript	missense_variant	494/2616	438/2382	146/793	I/M	atA/atG		1		-1	CCDC175	HGNC	HGNC:19847	protein_coding	YES	CCDS53898.1	ENSP00000453940	P0C221		UPI000059D254	NM_001164399.1	tolerated(0.05)		4/20		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR35347																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	50	59568298	59568298	T	C	1	0	0	0	0	1	0	0	0	2492	1512	53	5		5	CCDC175	14	59568298	Missense_Mutation	SNP	T	C3N-00547_TP	3389891	59568298	47475420	509	15970											
SMOC1	0	.	GRCh38	chr14	70011520	70011520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtgagagcgacgccagggCcaagactacagaggcggatg	11	5	16	9	3	0	3	0	1	0	3	0	6	0	4	2	3	2	0	2	3	2	2	rs755186347		C3N-00547_TP	C3N-00547_NB	C	C																c.893C>T	p.Ala298Val	p.A298V	ENST00000361956	9/12	549	488	61	501	501	0	strelka-varscan-mutect	SMOC1,missense_variant,p.Ala298Val,ENST00000381280,NM_022137.5;SMOC1,missense_variant,p.Ala298Val,ENST00000361956,NM_001034852.2;SMOC1,non_coding_transcript_exon_variant,,ENST00000557483,;	T	ENST00000361956	Transcript	missense_variant	1156/2040	893/1308	298/435	A/V	gCc/gTc	rs755186347	1		1	SMOC1	HGNC	HGNC:20318	protein_coding	YES	CCDS32110.1	ENSP00000355110	Q9H4F8		UPI0000071CCF	NM_001034852.2	deleterious(0.01)		9/12		hmmpanther:PTHR12352,hmmpanther:PTHR12352:SF13																	MODERATE	1	SNV	1			1										PASS		rs755186347	.												T	3	4	50	70011520	70011520	C	T	1	0	0	0	0	1	0	0	0	15122	739	26	3		3	SMOC1	14	70011520	Missense_Mutation	SNP	C	C3N-00547_TP	10443222	70011520	37032198	510	15971											
RPS6KL1	0	.	GRCh38	chr14	74909797	74909797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcccccgagggggcccaGcgtctgagttctggccagcc	5	6	15	15	2	2	2	0	2	2	0	2	3	2	2	5	3	3	1	5	3	0	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1016C>A	p.Ala339Asp	p.A339D	ENST00000354625	7/11	82	71	11	67	67	0	strelka-varscan-mutect	RPS6KL1,missense_variant,p.Ala339Asp,ENST00000354625,NM_031464.4;RPS6KL1,missense_variant,p.Ala339Asp,ENST00000555647,;RPS6KL1,missense_variant,p.Ala339Asp,ENST00000557413,;RPS6KL1,intron_variant,,ENST00000553789,;RPS6KL1,intron_variant,,ENST00000553971,;RPS6KL1,upstream_gene_variant,,ENST00000556848,;RPS6KL1,upstream_gene_variant,,ENST00000555910,;RPS6KL1,upstream_gene_variant,,ENST00000553315,;RPS6KL1,downstream_gene_variant,,ENST00000554900,;RPS6KL1,missense_variant,p.Ala308Asp,ENST00000555009,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000555834,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000553646,;RPS6KL1,downstream_gene_variant,,ENST00000553894,;RPS6KL1,downstream_gene_variant,,ENST00000554834,;	T	ENST00000354625	Transcript	missense_variant	1501/5195	1016/1650	339/549	A/D	gCt/gAt		1		-1	RPS6KL1	HGNC	HGNC:20222	protein_coding	YES	CCDS9834.2	ENSP00000346644	Q9Y6S9		UPI0000035B53	NM_031464.4	tolerated(0.37)		7/11		PROSITE_profiles:PS50011,hmmpanther:PTHR15508																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	50	74909797	74909797	G	T	1	0	0	0	0	1	0	0	0	13914	971	34	2		2	RPS6KL1	14	74909797	Missense_Mutation	SNP	G	C3N-00547_TP	4898277	74909797	32133921	511	15972											
NRXN3	0	.	GRCh38	chr14	79467331	79467331	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccgtgggcttcagcaccActgtgaaggatggcatcttg	7	11	13	10	1	2	1	1	1	1	0	2	2	2	2	2	3	2	3	2	3	1	3	rs752059168		C3N-00547_TP	C3N-00547_NB	A	A																c.2254A>T	p.Thr752Ser	p.T752S	ENST00000554719	13/17	147	95	52	156	156	0	strelka-varscan-mutect	NRXN3,missense_variant,p.Thr120Ser,ENST00000281127,NM_138970.4;NRXN3,missense_variant,p.Thr1114Ser,ENST00000634499,;NRXN3,missense_variant,p.Thr1125Ser,ENST00000635466,;NRXN3,missense_variant,p.Thr120Ser,ENST00000428277,NM_001105250.2;NRXN3,missense_variant,p.Thr752Ser,ENST00000554719,NM_004796.5;NRXN3,missense_variant,p.Thr120Ser,ENST00000557594,NM_001272020.1;NRXN3,non_coding_transcript_exon_variant,,ENST00000556003,;NRXN3,non_coding_transcript_exon_variant,,ENST00000553803,;NRXN3,non_coding_transcript_exon_variant,,ENST00000555073,;NRXN3,missense_variant,p.Thr1114Ser,ENST00000554738,;NRXN3,missense_variant,p.Thr120Ser,ENST00000555387,;	T	ENST00000554719	Transcript	missense_variant	2745/4156	2254/3186	752/1061	T/S	Act/Tct	rs752059168,COSM1217927,COSM1217928	1		1	NRXN3	HGNC	HGNC:8010	protein_coding	YES	CCDS9870.1	ENSP00000451648	Q9Y4C0		UPI0000167BBA	NM_004796.5	tolerated(0.91)		13/17		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF405,SMART_domains:SM00282,Superfamily_domains:SSF49899											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs752059168	.												T	3	4	50	79467331	79467331	A	T	1	0	0	0	0	1	0	0	0	10726	159	6	4		4	NRXN3	14	79467331	Missense_Mutation	SNP	A	C3N-00547_TP	4557534	79467331	27576387	512	15973											
FLRT2	0	.	GRCh38	chr14	85622686	85622686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctctctattccaaaccCtagcagaagctacacgcctc	11	8	4	18	1	1	1	0	0	1	1	4	1	2	1	4	0	4	2	4	0	5	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1172C>A	p.Pro391His	p.P391H	ENST00000330753	2/2	139	126	13	162	162	0	strelka-varscan-mutect	FLRT2,missense_variant,p.Pro391His,ENST00000330753,NM_013231.4;FLRT2,missense_variant,p.Pro391His,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	A	ENST00000330753	Transcript	missense_variant	1939/33679	1172/1983	391/660	P/H	cCt/cAt		1		1	FLRT2	HGNC	HGNC:3761	protein_coding	YES	CCDS9877.1	ENSP00000332879	O43155		UPI0000049E10	NM_013231.4	tolerated(0.11)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24369:SF23,hmmpanther:PTHR24369																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	85622686	85622686	C	A	1	0	0	0	0	1	0	0	0	5795	681	24	2		2	FLRT2	14	85622686	Missense_Mutation	SNP	C	C3N-00547_TP	6155355	85622686	21421032	513	15974											
SLC24A4	0	.	GRCh38	chr14	92433970	92433970	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcgacagcacggagccgtCctgctgcacatccttggtgt	7	8	13	13	3	0	0	0	0	0	0	2	3	2	1	3	2	5	3	3	2	0	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.300C>A	p.=	p.V100V	ENST00000532405	3/17	222	173	49	225	225	0	strelka-varscan-mutect	SLC24A4,synonymous_variant,p.=,ENST00000532405,NM_153646.3;SLC24A4,synonymous_variant,p.=,ENST00000531433,NM_153647.3;SLC24A4,synonymous_variant,p.=,ENST00000393265,NM_153648.3;SLC24A4,5_prime_UTR_variant,,ENST00000554461,;	A	ENST00000532405	Transcript	synonymous_variant	526/9950	300/1869	100/622	V	gtC/gtA		1		1	SLC24A4	HGNC	HGNC:10978	protein_coding	YES	CCDS9903.2	ENSP00000431840	Q8NFF2		UPI000044C5DE	NM_153646.3			3/17		Transmembrane_helices:TMhelix,hmmpanther:PTHR10846:SF21,hmmpanther:PTHR10846																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	92433970	92433970	C	A	1	0	0	0	0	0	0	0	1	14734	842	30	2		2	SLC24A4	14	92433970	Silent	SNP	C	C3N-00547_TP	6811284	92433970	14609748	514	15975											
GOLGA5	0	.	GRCh38	chr14	92797770	92797770	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccttcatcccattttgtGcgaagaaaaaagtcagaacc	14	9	8	10	1	2	2	2	0	0	2	3	3	3	2	3	1	2	0	3	1	5	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.333G>A	p.=	p.V111V	ENST00000163416	2/13	149	87	62	165	165	0	strelka-varscan-mutect	GOLGA5,synonymous_variant,p.=,ENST00000163416,NM_005113.3;	A	ENST00000163416	Transcript	synonymous_variant	589/2969	333/2196	111/731	V	gtG/gtA		1		1	GOLGA5	HGNC	HGNC:4428	protein_coding	YES	CCDS9905.1	ENSP00000163416	Q8TBA6		UPI000013C5AA	NM_005113.3			2/13		hmmpanther:PTHR13815,hmmpanther:PTHR13815:SF5																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	92797770	92797770	G	A	1	0	0	0	0	0	0	0	1	6434	1306	46	3		3	GOLGA5	14	92797770	Silent	SNP	G	C3N-00547_TP	363800	92797770	14245948	515	15976											
DYNC1H1	0	.	GRCh38	chr14	102027676	102027676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatgacgcagtgcaaagagGgggcacagaaggaaggcctg	13	4	17	7	1	0	4	0	2	0	2	0	5	0	5	1	4	1	3	1	4	3	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.9106G>A	p.Gly3036Arg	p.G3036R	ENST00000360184	47/78	647	418	229	620	620	0	strelka-varscan-mutect	DYNC1H1,missense_variant,p.Gly3036Arg,ENST00000360184,NM_001376.4;DYNC1H1,downstream_gene_variant,,ENST00000555204,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000554854,;	A	ENST00000360184	Transcript	missense_variant	9270/14333	9106/13941	3036/4646	G/R	Ggg/Agg		1		1	DYNC1H1	HGNC	HGNC:2961	protein_coding	YES	CCDS9966.1	ENSP00000348965	Q14204		UPI00001B515A	NM_001376.4	deleterious(0)		47/78		Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF28,SMART_domains:SM00382																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	102027676	102027676	G	A	1	0	0	0	0	1	0	0	0	4665	1232	43	3		3	DYNC1H1	14	102027676	Missense_Mutation	SNP	G	C3N-00547_TP	9229906	102027676	5016042	516	15977											
CKB	0	.	GRCh38	chr14	103519997	103519997	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagcccaggcggtcagcgTtggagacgtcgaagaccccg	10	4	15	12	5	1	3	1	0	0	3	2	5	1	3	3	3	2	1	3	3	2	1	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.1013A>G	p.Asn338Ser	p.N338S	ENST00000348956	8/8	181	123	58	183	183	0	strelka-varscan-mutect	CKB,missense_variant,p.Asn338Ser,ENST00000348956,NM_001823.4;CKB,missense_variant,p.Asn136Ser,ENST00000553610,;CKB,missense_variant,p.Asn89Ser,ENST00000555039,;CKB,downstream_gene_variant,,ENST00000553878,;CKB,downstream_gene_variant,,ENST00000557530,;CKB,3_prime_UTR_variant,,ENST00000553652,;CKB,3_prime_UTR_variant,,ENST00000554989,;CKB,non_coding_transcript_exon_variant,,ENST00000553528,;CKB,non_coding_transcript_exon_variant,,ENST00000554282,;CKB,downstream_gene_variant,,ENST00000555770,;CKB,downstream_gene_variant,,ENST00000554705,;CKB,downstream_gene_variant,,ENST00000554426,;CKB,downstream_gene_variant,,ENST00000555659,;CKB,downstream_gene_variant,,ENST00000553994,;CKB,downstream_gene_variant,,ENST00000557569,;CKB,downstream_gene_variant,,ENST00000557287,;CKB,downstream_gene_variant,,ENST00000555366,;	C	ENST00000348956	Transcript	missense_variant	1371/1709	1013/1146	338/381	N/S	aAc/aGc		1		-1	CKB	HGNC	HGNC:1991	protein_coding	YES	CCDS9981.1	ENSP00000299198	P12277	V9HWH2	UPI000012DCBA	NM_001823.4	deleterious(0)		8/8		PROSITE_profiles:PS51510,hmmpanther:PTHR11547,hmmpanther:PTHR11547:SF34,Gene3D:3.30.590.10,Pfam_domain:PF00217,Superfamily_domains:SSF55931																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	103519997	103519997	T	C	1	0	0	0	0	1	0	0	0	3209	1725	60	5		5	CKB	14	103519997	Missense_Mutation	SNP	T	C3N-00547_TP	1492321	103519997	3523721	517	15978											
TDRD9	0	.	GRCh38	chr14	103928650	103928650	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgcagcgccaggacgtggcCcccggcgctggtcccgcggc	3	4	17	17	6	0	0	0	0	0	0	1	1	1	1	4	5	2	2	4	5	0	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.141C>A	p.=	p.A47A	ENST00000409874	1/36	20	14	6	20	20	0	strelka-varscan-mutect	TDRD9,synonymous_variant,p.=,ENST00000409874,NM_153046.2;C14orf2,upstream_gene_variant,,ENST00000554880,;TDRD9,upstream_gene_variant,,ENST00000496087,;	A	ENST00000409874	Transcript	synonymous_variant	189/4782	141/4149	47/1382	A	gcC/gcA		1		1	TDRD9	HGNC	HGNC:20122	protein_coding	YES	CCDS9987.2	ENSP00000387303	Q8NDG6		UPI0001642306	NM_153046.2			1/36		Low_complexity_(Seg):seg,hmmpanther:PTHR18934:SF113,hmmpanther:PTHR18934																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	50	103928650	103928650	C	A	1	0	0	0	0	0	0	0	1	16146	610	22	2		2	TDRD9	14	103928650	Silent	SNP	C	C3N-00547_TP	408653	103928650	3115068	518	15979											
ASPG	0	.	GRCh38	chr14	104097569	104097569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgcccatccatgccCtgtggagcgacggccgtgag	6	6	14	15	3	0	1	0	1	0	0	1	3	1	2	5	3	3	0	5	3	0	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.445C>A	p.Leu149Met	p.L149M	ENST00000551177	5/16	189	118	71	154	154	0	strelka-varscan-mutect	ASPG,missense_variant,p.Leu149Met,ENST00000551177,NM_001080464.2;ASPG,missense_variant,p.Leu149Met,ENST00000546892,;ASPG,missense_variant,p.Leu86Met,ENST00000551170,;ASPG,non_coding_transcript_exon_variant,,ENST00000548372,;	A	ENST00000551177	Transcript	missense_variant	537/4851	445/1722	149/573	L/M	Ctg/Atg		1		1	ASPG	HGNC	HGNC:20123	protein_coding	YES	CCDS45170.2	ENSP00000450040	Q86U10		UPI00001D7B76	NM_001080464.2	tolerated(0.07)		5/16		PROSITE_profiles:PS51732,hmmpanther:PTHR11707:SF28,hmmpanther:PTHR11707,TIGRFAM_domain:TIGR00519,PIRSF_domain:PIRSF001220,Gene3D:3.40.50.1170,Pfam_domain:PF00710,PIRSF_domain:PIRSF500176,SMART_domains:SM00870,Superfamily_domains:SSF53774																	MODERATE	1	SNV	1			1										PASS		rs1480014615	.												A	3	1	50	104097569	104097569	C	A	1	0	0	0	0	1	0	0	0	1199	680	24	2		2	ASPG	14	104097569	Missense_Mutation	SNP	C	C3N-00547_TP	168919	104097569	2946149	519	15980											
AHNAK2	0	.	GRCh38	chr14	104947296	104947296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctccctcgggaacgtggcCctctgggagtttcacatcca	6	9	12	14	2	2	0	1	0	1	0	5	2	4	2	3	4	1	2	3	4	1	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.8155G>A	p.Gly2719Ser	p.G2719S	ENST00000333244	7/7	392	262	130	324	323	1	strelka-varscan-mutect	AHNAK2,missense_variant,p.Gly2719Ser,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	T	ENST00000333244	Transcript	missense_variant	8275/18254	8155/17388	2719/5795	G/S	Ggc/Agc		1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	tolerated(0.07)		7/7																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	104947296	104947296	C	T	1	0	0	0	0	1	0	0	0	492	623	22	3		3	AHNAK2	14	104947296	Missense_Mutation	SNP	C	C3N-00547_TP	849727	104947296	2096422	520	15981											
AHNAK2	0	.	GRCh38	chr14	104948589	104948589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggctcctggggccttgaCgtccacctccacgctgggca	4	9	12	16	2	0	1	0	1	0	0	3	1	3	1	5	4	0	3	5	4	0	2	rs74090122		C3N-00547_TP	C3N-00547_NB	C	C																c.6862G>A	p.Val2288Ile	p.V2288I	ENST00000333244	7/7	627	498	129	567	566	1	strelka-varscan-mutect	AHNAK2,missense_variant,p.Val2288Ile,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	T	ENST00000333244	Transcript	missense_variant	6982/18254	6862/17388	2288/5795	V/I	Gtc/Atc	rs74090122	1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	tolerated(0.78)		7/7																			MODERATE	1	SNV	5			1										PASS		rs74090122	.												T	3	4	50	104948589	104948589	C	T	1	0	0	0	0	1	0	0	0	492	536	19	1		1	AHNAK2	14	104948589	Missense_Mutation	SNP	C	C3N-00547_TP	1293	104948589	2095129	521	15982											
AHNAK2	0	.	GRCh38	chr14	104950126	104950126	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgggggccatcacctcCgccttggggcctttcaggtc	4	9	13	15	3	2	0	2	0	0	0	5	0	3	0	5	5	0	0	5	5	0	2	rs375331989		C3N-00547_TP	C3N-00547_NB	C	C																c.5325G>T	p.=	p.A1775A	ENST00000333244	7/7	661	522	139	654	654	0	strelka-varscan-mutect	AHNAK2,synonymous_variant,p.=,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	A	ENST00000333244	Transcript	synonymous_variant	5445/18254	5325/17388	1775/5795	A	gcG/gcT	rs375331989,COSM1368630	1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2			7/7		hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348											0,1						LOW	1	SNV	5		0,1	1										PASS		rs375331989	.												A	2	1	50	104950126	104950126	C	A	1	0	0	0	0	0	0	0	1	492	639	23	1		1	AHNAK2	14	104950126	Silent	SNP	C	C3N-00547_TP	1537	104950126	2093592	522	15983											
NPAP1	0	.	GRCh38	chr15	24678181	24678181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atccaggagccacccctcaaCccaaatttggggcccctgat	10	7	8	16	0	1	1	1	1	0	0	2	2	2	2	7	3	2	0	7	3	2	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2314C>A	p.Pro772Thr	p.P772T	ENST00000329468	1/1	185	159	26	320	319	1	strelka-varscan-mutect	NPAP1,missense_variant,p.Pro772Thr,ENST00000329468,NM_018958.2;	A	ENST00000329468	Transcript	missense_variant	2314/7526	2314/3471	772/1156	P/T	Ccc/Acc		1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2	deleterious(0.03)		1/1		hmmpanther:PTHR23193:SF15,hmmpanther:PTHR23193																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	50	24678181	24678181	C	A	1	0	0	0	0	1	0	0	0	10609	507	18	2		2	NPAP1	15	24678181	Missense_Mutation	SNP	C	C3N-00547_TP		24678181	77313008	523	15984											
GABRG3	0	.	GRCh38	chr15	27328871	27328871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggacgaacactcctgccCgctgattttctccagctgtg	7	11	9	14	2	1	1	0	1	1	0	3	3	2	2	3	1	3	2	3	1	1	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.557C>A	p.Pro186Gln	p.P186Q	ENST00000615808	5/10	144	109	35	196	196	0	strelka-varscan-mutect	GABRG3,missense_variant,p.Pro186Gln,ENST00000615808,NM_033223.4;GABRG3,missense_variant,p.Pro186Gln,ENST00000555083,NM_001270873.1;GABRG3,missense_variant,p.Pro7Gln,ENST00000333743,;GABRG3,missense_variant,p.Pro128Gln,ENST00000554696,;GABRG3,missense_variant,p.Pro19Gln,ENST00000557596,;	A	ENST00000615808	Transcript	missense_variant	811/10768	557/1404	186/467	P/Q	cCg/cAg		1		1	GABRG3	HGNC	HGNC:4088	protein_coding	YES	CCDS45195.1	ENSP00000479113	Q99928		UPI000012AFCB	NM_033223.4	deleterious(0)		5/10		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF195,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	27328871	27328871	C	A	1	0	0	0	0	1	0	0	0	6044	652	23	1		1	GABRG3	15	27328871	Missense_Mutation	SNP	C	C3N-00547_TP	2650690	27328871	74662318	524	15985											
HERC2	0	.	GRCh38	chr15	28212574	28212574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttcacattaaaggccaCggcagggagctggagaggac	11	7	15	8	1	1	1	1	0	0	1	1	4	1	3	1	5	1	4	1	5	2	3	rs777318947		C3N-00547_TP	C3N-00547_NB	C	C																c.6796G>C	p.Val2266Leu	p.V2266L	ENST00000261609	43/93	99	82	17	159	159	0	strelka-varscan-mutect	HERC2,missense_variant,p.Val2266Leu,ENST00000261609,NM_004667.5;	G	ENST00000261609	Transcript	missense_variant	6905/15337	6796/14505	2266/4834	V/L	Gtg/Ctg	rs777318947	1		-1	HERC2	HGNC	HGNC:4868	protein_coding	YES	CCDS10021.1	ENSP00000261609	O95714		UPI00004578F7	NM_004667.5	tolerated(0.41)		43/93																			MODERATE	1	SNV	1			1										PASS		rs777318947	.												G	3	3	50	28212574	28212574	C	G	1	0	0	0	0	1	0	0	0	6942	536	19	4		4	HERC2	15	28212574	Missense_Mutation	SNP	C	C3N-00547_TP	883703	28212574	73778615	525	15986											
HERC2	0	.	GRCh38	chr15	28265618	28265618	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgagagctctacgtacCgttctcagtgacagccaggg	8	8	14	11	3	2	2	1	1	2	1	3	3	2	2	2	2	4	3	2	2	2	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1870G>C	p.Gly624Arg	p.G624R	ENST00000261609	14/93	116	72	44	200	200	0	strelka-varscan-mutect	HERC2,missense_variant,p.Gly624Arg,ENST00000261609,NM_004667.5;HERC2,splice_region_variant,,ENST00000564734,;	G	ENST00000261609	Transcript	missense_variant,splice_region_variant	1979/15337	1870/14505	624/4834	G/R	Ggg/Cgg		1		-1	HERC2	HGNC	HGNC:4868	protein_coding	YES	CCDS10021.1	ENSP00000261609	O95714		UPI00004578F7	NM_004667.5	deleterious(0)		14/93		Gene3D:2.130.10.30,Pfam_domain:PF00415,PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF325,Superfamily_domains:SSF50985																	MODERATE	1	SNV	1			1										PASS		rs1321031215	.												G	3	3	50	28265618	28265618	C	G	1	0	0	0	0	1	0	0	0	6942	666	23	4		4	HERC2	15	28265618	Missense_Mutation	SNP	C	C3N-00547_TP	53044	28265618	73725571	526	15987											
APBA2	0	.	GRCh38	chr15	29105458	29105458	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgagccaatggcatcaaccCcgaagacttgagccagaagg	13	4	12	12	2	1	3	1	1	0	2	1	5	1	3	4	2	3	1	4	2	4	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1604C>G	p.Pro535Arg	p.P535R	ENST00000558402	12/16	338	230	108	407	407	0	strelka-varscan-mutect	APBA2,missense_variant,p.Pro535Arg,ENST00000558402,;APBA2,missense_variant,p.Pro535Arg,ENST00000558259,NM_005503.3;APBA2,missense_variant,p.Pro523Arg,ENST00000411764,NM_001130414.1;APBA2,missense_variant,p.Pro523Arg,ENST00000558330,;APBA2,missense_variant,p.Pro535Arg,ENST00000561069,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;APBA2,downstream_gene_variant,,ENST00000382938,;	G	ENST00000558402	Transcript	missense_variant	2203/4031	1604/2250	535/749	P/R	cCc/cGc		1		1	APBA2	HGNC	HGNC:579	protein_coding	YES	CCDS10022.1	ENSP00000453293	Q99767		UPI0000046798		deleterious(0)		12/16		PROSITE_profiles:PS01179,hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	50	29105458	29105458	C	G	1	0	0	0	0	1	0	0	0	877	623	22	4		4	APBA2	15	29105458	Missense_Mutation	SNP	C	C3N-00547_TP	839840	29105458	72885731	527	15988											
GOLGA8J	0	.	GRCh38	chr15	30090230	30090230	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacaatgagaacaagaacGcactgcagttggagcagcaa	18	4	11	8	1	0	3	0	1	0	3	0	5	0	4	0	1	6	5	0	1	6	1	rs559438285		C3N-00547_TP	C3N-00547_NB	G	G																c.1150G>C	p.Ala384Pro	p.A384P	ENST00000567927	13/19	94	68	26	125	125	0	strelka-varscan-mutect	GOLGA8J,missense_variant,p.Ala384Pro,ENST00000567927,NM_001282472.1;RN7SL673P,upstream_gene_variant,,ENST00000616262,;GOLGA8J,downstream_gene_variant,,ENST00000568123,;	C	ENST00000567927	Transcript	missense_variant	1150/1899	1150/1899	384/632	A/P	Gca/Cca	rs559438285	1		1	GOLGA8J	HGNC	HGNC:38650	protein_coding	YES	CCDS61574.1	ENSP00000456401	A6NMD2		UPI0001A5E7A2	NM_001282472.1	deleterious(0)		13/19		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10881:SF48,hmmpanther:PTHR10881,Pfam_domain:PF15070																	MODERATE	1	SNV	5			1										PASS		rs559438285	.												C	3	2	50	30090230	30090230	G	C	1	0	0	0	0	1	0	0	0	6452	1087	38	4		4	GOLGA8J	15	30090230	Missense_Mutation	SNP	G	C3N-00547_TP	984772	30090230	71900959	528	15989											
OTUD7A	0	.	GRCh38	chr15	31487262	31487262	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggttcagcttggcttCtagcgacaggataaggctgg	10	9	14	8	1	2	1	1	0	1	1	2	3	2	2	0	5	2	4	0	5	3	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1282G>T	p.Glu428Ter	p.E428*	ENST00000307050	10/11	118	108	10	120	119	1	strelka-varscan-mutect	OTUD7A,stop_gained,p.Glu428Ter,ENST00000307050,NM_130901.1;	A	ENST00000307050	Transcript	stop_gained	1375/10770	1282/2781	428/926	E/*	Gaa/Taa		1		-1	OTUD7A	HGNC	HGNC:20718	protein_coding	YES	CCDS10026.1	ENSP00000305926	Q8TE49		UPI0000073AA5	NM_130901.1			10/11		hmmpanther:PTHR13367:SF9,hmmpanther:PTHR13367																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	50	31487262	31487262	C	A	1	0	0	0	0	0	1	0	0	11387	922	32	2		2	OTUD7A	15	31487262	Nonsense_Mutation	SNP	C	C3N-00547_TP	1397032	31487262	70503927	529	15990											
BUB1B	0	.	GRCh38	chr15	40210177	40210177	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagttattctgggtggcGccaagaaactctgcagaatt	12	11	10	8	1	2	2	0	0	2	2	2	2	2	2	1	2	3	2	1	2	6	4	rs752774198		C3N-00547_TP	C3N-00547_NB	G	G																c.2352G>A	p.=	p.A784A	ENST00000287598	18/23	292	235	57	360	359	1	strelka-varscan-mutect	BUB1B,synonymous_variant,p.=,ENST00000287598,NM_001211.5;BUB1B,synonymous_variant,p.=,ENST00000412359,;BUB1B,downstream_gene_variant,,ENST00000558972,;	A	ENST00000287598	Transcript	synonymous_variant	2547/3725	2352/3153	784/1050	A	gcG/gcA	rs752774198,COSM961105	1		1	BUB1B	HGNC	HGNC:1149	protein_coding	YES	CCDS10053.1	ENSP00000287598	O60566		UPI000006E699	NM_001211.5			18/23		hmmpanther:PTHR14030:SF4,hmmpanther:PTHR14030											0,1						LOW	1	SNV	1		0,1	1										PASS		rs752774198	.												A	2	1	50	40210177	40210177	G	A	1	0	0	0	0	0	0	0	1	1747	1074	38	1		1	BUB1B	15	40210177	Silent	SNP	G	C3N-00547_TP	8722915	40210177	61781012	530	15991											
ZSCAN29	0	.	GRCh38	chr15	43364110	43364110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatcattgggtggggcagCaacccggacactcaccaaag	11	5	12	13	1	2	0	2	0	0	0	2	1	2	1	3	4	2	2	3	4	2	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1495G>T	p.Ala499Ser	p.A499S	ENST00000396976	4/5	133	106	27	177	177	0	strelka-varscan-mutect	ZSCAN29,missense_variant,p.Ala499Ser,ENST00000396976,NM_152455.3;ZSCAN29,3_prime_UTR_variant,,ENST00000396972,;ZSCAN29,3_prime_UTR_variant,,ENST00000570181,;ZSCAN29,intron_variant,,ENST00000562072,;ZSCAN29,intron_variant,,ENST00000568898,;ZSCAN29,3_prime_UTR_variant,,ENST00000566849,;	A	ENST00000396976	Transcript	missense_variant	1630/5595	1495/2559	499/852	A/S	Gct/Tct		1		-1	ZSCAN29	HGNC	HGNC:26673	protein_coding	YES	CCDS10095.2	ENSP00000380174	Q8IWY8		UPI0000DA5AF5	NM_152455.3	tolerated(0.5)		4/5		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF194																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	43364110	43364110	C	A	1	0	0	0	0	1	0	0	0	18832	710	25	2		2	ZSCAN29	15	43364110	Missense_Mutation	SNP	C	C3N-00547_TP	3153933	43364110	58627079	531	15992											
DUOX2	0	.	GRCh38	chr15	45104253	45104253	+	Missense_Mutation	SNP	C	C	A																															acatgtcctggggcttgaggCccagggactcggcaaactcg																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2447G>T	p.Gly816Val	p.G816V	ENST00000603300	19/34	420	340	80	540	540	0	strelka-varscan-mutect	DUOX2,missense_variant,p.Gly816Val,ENST00000389039,;DUOX2,missense_variant,p.Gly816Val,ENST00000603300,NM_014080.4;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;DUOX2,upstream_gene_variant,,ENST00000558416,;DUOX2,upstream_gene_variant,,ENST00000560797,;	A	ENST00000603300	Transcript	missense_variant	2650/6345	2447/4647	816/1548	G/V	gGc/gTc		1		-1	DUOX2	HGNC	HGNC:13273	protein_coding	YES	CCDS10117.1	ENSP00000475084	Q9NRD8		UPI000013D775	NM_014080.4	deleterious(0)		19/34		Gene3D:1.10.238.10,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF67,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	45104253	45104253	C	A	1	0	0	0	0	1	0	0	0	4623	739	26	2		2	DUOX2	15	45104253	Missense_Mutation	SNP	C	C3N-00547_TP	1740143	45104253	56886936	532	15993	344	2									
DUOX2	0	.	GRCh38	chr15	45104255	45104255	+	Silent	SNP	C	C	A																															atgtcctggggcttgaggccCagggactcggcaaactcggc																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2445G>T	p.=	p.L815L	ENST00000603300	19/34	409	333	76	534	534	0	strelka-varscan-mutect	DUOX2,synonymous_variant,p.=,ENST00000389039,;DUOX2,synonymous_variant,p.=,ENST00000603300,NM_014080.4;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;DUOX2,upstream_gene_variant,,ENST00000558416,;DUOX2,upstream_gene_variant,,ENST00000560797,;	A	ENST00000603300	Transcript	synonymous_variant	2648/6345	2445/4647	815/1548	L	ctG/ctT		1		-1	DUOX2	HGNC	HGNC:13273	protein_coding	YES	CCDS10117.1	ENSP00000475084	Q9NRD8		UPI000013D775	NM_014080.4			19/34		Gene3D:1.10.238.10,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF67,Superfamily_domains:SSF47473																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	45104255	45104255	C	A	1	0	0	0	0	0	0	0	1	4623	581	21	2		2	DUOX2	15	45104255	Silent	SNP	C	C3N-00547_TP	2	45104255	56886934	533	15994	344	2									
SEMA6D	0	.	GRCh38	chr15	47771586	47771586	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccacccccactggggcgaAggtggactatattcagggaa	10	6	13	12	1	1	0	1	0	0	0	1	3	1	2	3	5	0	0	3	5	4	3	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.3023A>T	p.Lys1008Met	p.K1008M	ENST00000316364	19/19	120	92	28	145	145	0	strelka-varscan-mutect	SEMA6D,missense_variant,p.Lys1008Met,ENST00000316364,NM_153618.1;SEMA6D,missense_variant,p.Lys946Met,ENST00000558014,NM_001198999.1;SEMA6D,missense_variant,p.Lys952Met,ENST00000354744,NM_153617.1;SEMA6D,missense_variant,p.Lys946Met,ENST00000358066,NM_020858.1;SEMA6D,missense_variant,p.Lys933Met,ENST00000389428,NM_153616.1;SEMA6D,missense_variant,p.Lys1008Met,ENST00000536845,;SEMA6D,3_prime_UTR_variant,,ENST00000355997,NM_153619.1;SEMA6D,3_prime_UTR_variant,,ENST00000558816,;SEMA6D,downstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000558431,;	T	ENST00000316364	Transcript	missense_variant	3462/6099	3023/3222	1008/1073	K/M	aAg/aTg		1		1	SEMA6D	HGNC	HGNC:16770	protein_coding	YES	CCDS32225.1	ENSP00000324857	Q8NFY4		UPI000006E201	NM_153618.1	deleterious(0)		19/19		hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	47771586	47771586	A	T	1	0	0	0	0	1	0	0	0	14318	72	3	4		4	SEMA6D	15	47771586	Missense_Mutation	SNP	A	C3N-00547_TP	2667331	47771586	54219603	534	15995											
GCNT3	0	.	GRCh38	chr15	59618535	59618535	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcgagagcctttcacAgacacccactacctctccct	12	7	6	16	1	2	3	1	0	1	3	3	4	2	3	4	0	3	0	4	0	3	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.297A>T	p.=	p.T99T	ENST00000396065	3/3	212	165	47	230	230	0	strelka-varscan-mutect	GCNT3,synonymous_variant,p.=,ENST00000396065,;GCNT3,synonymous_variant,p.=,ENST00000560585,NM_004751.2;GCNT3,synonymous_variant,p.=,ENST00000559200,;GCNT3,downstream_gene_variant,,ENST00000559189,;GCNT3,downstream_gene_variant,,ENST00000559626,;GCNT3,intron_variant,,ENST00000560210,;GCNT3,downstream_gene_variant,,ENST00000560580,;GCNT3,downstream_gene_variant,,ENST00000560874,;GCNT3,downstream_gene_variant,,ENST00000558721,;	T	ENST00000396065	Transcript	synonymous_variant	745/4933	297/1317	99/438	T	acA/acT		1		1	GCNT3	HGNC	HGNC:4205	protein_coding	YES	CCDS10172.1	ENSP00000379377	O95395	A0A024R5T9	UPI0000034962				3/3		hmmpanther:PTHR19297:SF81,hmmpanther:PTHR19297																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	59618535	59618535	A	T	1	0	0	0	0	0	0	0	1	6172	175	7	4		4	GCNT3	15	59618535	Silent	SNP	A	C3N-00547_TP	11846949	59618535	42372654	535	15996											
SNX1	0	.	GRCh38	chr15	64136352	64136352	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagtctcgggtgactcaatAtgaaagggacttcgagagga	12	8	15	6	2	2	3	1	2	1	1	4	7	2	6	0	4	0	0	0	4	3	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1388A>G	p.Tyr463Cys	p.Y463C	ENST00000261889	13/15	204	167	37	285	285	0	strelka-varscan-mutect	SNX1,missense_variant,p.Tyr463Cys,ENST00000261889,NM_001242933.1;SNX1,missense_variant,p.Tyr463Cys,ENST00000559844,NM_003099.4;SNX1,missense_variant,p.Tyr245Cys,ENST00000560829,;SNX1,missense_variant,p.Tyr398Cys,ENST00000561026,NM_148955.3;SNX1,missense_variant,p.Tyr8Cys,ENST00000560861,;SNX1,intron_variant,,ENST00000558040,;SNX1,downstream_gene_variant,,ENST00000559339,;SNX1,3_prime_UTR_variant,,ENST00000380285,;SNX1,non_coding_transcript_exon_variant,,ENST00000559961,;SNX1,downstream_gene_variant,,ENST00000560260,;SNX1,downstream_gene_variant,,ENST00000559401,;	G	ENST00000261889	Transcript	missense_variant	1409/3373	1388/1674	463/557	Y/C	tAt/tGt		1		1	SNX1	HGNC	HGNC:11172	protein_coding	YES	CCDS58371.1	ENSP00000261889	Q13596		UPI000217BDBB	NM_001242933.1	tolerated(0.18)		13/15		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09325,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF129,Superfamily_domains:SSF103657																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	50	64136352	64136352	A	G	1	0	0	0	0	1	0	0	0	15201	449	16	5		5	SNX1	15	64136352	Missense_Mutation	SNP	A	C3N-00547_TP	4517817	64136352	37854837	536	15997											
PIF1	0	.	GRCh38	chr15	64818293	64818293	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacccaactaccacccctcGggcaccattcaccaggcccc	10	4	6	21	1	1	0	1	0	0	0	2	1	1	0	8	2	3	1	8	2	3	2	rs200699011		C3N-00547_TP	C3N-00547_NB	G	G																c.1492C>A	p.=	p.R498R	ENST00000333425	10/13	159	131	28	175	175	0	strelka-varscan-mutect	PIF1,synonymous_variant,p.=,ENST00000268043,NM_001286499.1,NM_025049.3,NM_001286496.1;PIF1,synonymous_variant,p.=,ENST00000559239,;PIF1,synonymous_variant,p.=,ENST00000333425,NM_001286497.1;PIF1,non_coding_transcript_exon_variant,,ENST00000559522,;PIF1,non_coding_transcript_exon_variant,,ENST00000559872,;PIF1,downstream_gene_variant,,ENST00000560444,;PIF1,downstream_gene_variant,,ENST00000560504,;PIF1,downstream_gene_variant,,ENST00000558380,;PIF1,downstream_gene_variant,,ENST00000558547,;	T	ENST00000333425	Transcript	synonymous_variant	1587/2278	1492/2124	498/707	R	Cga/Aga	rs200699011,COSM3754408,COSM3754409	1		-1	PIF1	HGNC	HGNC:26220	protein_coding	YES	CCDS66797.1	ENSP00000328174	Q9H611		UPI00005DB2E0	NM_001286497.1			10/13		HAMAP:MF_03176,Pfam_domain:PF05970,hmmpanther:PTHR23274,Superfamily_domains:SSF52540											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs200699011	.												T	2	4	50	64818293	64818293	G	T	1	0	0	0	0	0	0	0	1	11976	1124	39	1		1	PIF1	15	64818293	Silent	SNP	G	C3N-00547_TP	681941	64818293	37172896	537	15998											
KBTBD13	0	.	GRCh38	chr15	65077051	65077051	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggaggacgagctgcTgcaggccgtggagtgcgccg	5	4	21	11	6	0	0	0	0	0	0	0	4	0	3	2	6	4	3	2	6	0	0	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.236T>A	p.Leu79Gln	p.L79Q	ENST00000432196	1/1	66	53	13	128	128	0	strelka-varscan-mutect	KBTBD13,missense_variant,p.Leu79Gln,ENST00000432196,NM_001101362.2;RASL12,upstream_gene_variant,,ENST00000434605,;	A	ENST00000432196	Transcript	missense_variant	236/1377	236/1377	79/458	L/Q	cTg/cAg		1		1	KBTBD13	HGNC	HGNC:37227	protein_coding	YES	CCDS45281.1	ENSP00000388723	C9JR72		UPI0000161560	NM_001101362.2	deleterious(0.01)		1/1		hmmpanther:PTHR24412:SF57,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,Superfamily_domains:SSF54695																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	50	65077051	65077051	T	A	1	0	0	0	0	1	0	0	0	7909	1580	55	4		4	KBTBD13	15	65077051	Missense_Mutation	SNP	T	C3N-00547_TP	258758	65077051	36914138	538	15999											
UBAP1L	0	.	GRCh38	chr15	65102323	65102323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttcccctcggagagcCgccgccgcgcccctgccagc	4	4	11	22	5	0	1	0	0	0	1	2	2	1	1	9	1	4	1	9	1	0	1	rs763106125		C3N-00547_TP	C3N-00547_NB	C	C																c.482G>T	p.Arg161Leu	p.R161L	ENST00000559089	3/6	34	27	7	73	73	0	strelka-varscan-mutect	UBAP1L,missense_variant,p.Arg161Leu,ENST00000559089,;UBAP1L,missense_variant,p.Arg161Leu,ENST00000502113,NM_001163692.1;UBAP1L,intron_variant,,ENST00000558802,;UBAP1L,upstream_gene_variant,,ENST00000561387,;RP11-325L12.3,upstream_gene_variant,,ENST00000560906,;	A	ENST00000559089	Transcript	missense_variant	703/1694	482/1146	161/381	R/L	cGg/cTg	rs763106125	1		-1	UBAP1L	HGNC	HGNC:40028	protein_coding	YES	CCDS53948.1	ENSP00000454012	F5GYI3		UPI00004DD5A3		deleterious(0.01)		3/6		hmmpanther:PTHR15960:SF3,hmmpanther:PTHR15960																	MODERATE	1	SNV	1			1										PASS		rs763106125	.												A	3	1	50	65102323	65102323	C	A	1	0	0	0	0	1	0	0	0	17358	652	23	1		1	UBAP1L	15	65102323	Missense_Mutation	SNP	C	C3N-00547_TP	25272	65102323	36888866	539	16000											
SKOR1	0	.	GRCh38	chr15	67833785	67833785	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctgcaagatgctgacGccccgccactgcactggcaa	8	8	9	16	2	1	2	0	1	1	1	2	2	1	2	4	1	3	4	4	1	2	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2556G>A	p.=	p.T852T	ENST00000341418	15/15	433	386	47	464	464	0	strelka-varscan-mutect	SKOR1,synonymous_variant,p.=,ENST00000380035,;SKOR1,synonymous_variant,p.=,ENST00000554054,;SKOR1,synonymous_variant,p.=,ENST00000554240,;SKOR1,synonymous_variant,p.=,ENST00000341418,NM_001258024.1;RP11-34F13.3,intron_variant,,ENST00000558889,;RP11-34F13.2,downstream_gene_variant,,ENST00000502156,;RP11-34F13.3,intron_variant,,ENST00000560577,;	A	ENST00000341418	Transcript	synonymous_variant	2556/3332	2556/2607	852/868	T	acG/acA		1		1	SKOR1	HGNC	HGNC:21326	protein_coding	YES	CCDS58374.1	ENSP00000343200	P84550		UPI00001987EE	NM_001258024.1			15/15		hmmpanther:PTHR10005,hmmpanther:PTHR10005:SF8																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	67833785	67833785	G	A	1	0	0	0	0	0	0	0	1	14624	1074	38	1		1	SKOR1	15	67833785	Silent	SNP	G	C3N-00547_TP	2731462	67833785	34157404	540	16001											
PKM	0	.	GRCh38	chr15	72203082	72203082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttataagaagcctccacgCtgcccatggccatggcttcc	9	9	8	15	1	0	1	0	0	0	1	2	1	2	1	5	2	2	2	5	2	3	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1247G>T	p.Ser416Ile	p.S416I	ENST00000319622	9/11	388	344	44	462	461	1	strelka-varscan-mutect	PKM,missense_variant,p.Ser416Ile,ENST00000319622,NM_001316318.1,NM_001206796.1,NM_182470.2,NM_182471.2;PKM,missense_variant,p.Ser416Ile,ENST00000565184,;PKM,missense_variant,p.Ser416Ile,ENST00000565154,;PKM,missense_variant,p.Ser251Ile,ENST00000568883,;PKM,missense_variant,p.Ser416Ile,ENST00000568459,NM_001206799.1;PKM,missense_variant,p.Ser416Ile,ENST00000561609,;PKM,intron_variant,,ENST00000449901,NM_001206798.1;PKM,intron_variant,,ENST00000335181,NM_002654.4;PKM,intron_variant,,ENST00000389093,NM_001206797.1;PKM,non_coding_transcript_exon_variant,,ENST00000564440,;PKM,non_coding_transcript_exon_variant,,ENST00000570166,;PKM,intron_variant,,ENST00000567118,;PKM,intron_variant,,ENST00000569857,;PKM,intron_variant,,ENST00000563986,;PKM,upstream_gene_variant,,ENST00000565143,;PKM,downstream_gene_variant,,ENST00000563275,;PKM,downstream_gene_variant,,ENST00000564993,;	A	ENST00000319622	Transcript	missense_variant	1747/2717	1247/1596	416/531	S/I	aGc/aTc		1		-1	PKM	HGNC	HGNC:9021	protein_coding	YES	CCDS32285.1	ENSP00000320171	P14618	A0A024R5Z9	UPI000014064D	NM_001316318.1,NM_001206796.1,NM_182470.2,NM_182471.2	deleterious(0)		9/11		hmmpanther:PTHR11817,hmmpanther:PTHR11817:SF23,Gene3D:3.40.1380.20,TIGRFAM_domain:TIGR01064,Pfam_domain:PF02887,Superfamily_domains:SSF52935																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	50	72203082	72203082	C	A	1	0	0	0	0	1	0	0	0	12073	797	28	2		2	PKM	15	72203082	Missense_Mutation	SNP	C	C3N-00547_TP	4369297	72203082	29788107	541	16002											
C15orf59	0	.	GRCh38	chr15	73739931	73739931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccctagtttttcccccTggctttctgtctagtggctg	2	15	10	14	1	2	0	0	0	2	0	3	0	3	0	4	3	0	3	4	3	2	5	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.868A>G	p.Arg290Gly	p.R290G	ENST00000569673	3/3	55	51	4	106	106	0	varscan-mutect	C15orf59,missense_variant,p.Arg290Gly,ENST00000569673,;C15orf59,missense_variant,p.Arg290Gly,ENST00000379822,NM_001039614.2;C15orf59,downstream_gene_variant,,ENST00000559817,;C15orf59,non_coding_transcript_exon_variant,,ENST00000558834,;	C	ENST00000569673	Transcript	missense_variant	2073/6573	868/882	290/293	R/G	Agg/Ggg		1		-1	C15orf59	HGNC	HGNC:33753	protein_coding	YES	CCDS32289.1	ENSP00000457205	Q2T9L4		UPI00001D778D		deleterious_low_confidence(0.05)		3/3		hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	50	73739931	73739931	T	C	1	0	0	0	0	1	0	0	0	1850	1579	55	5		5	C15orf59	15	73739931	Missense_Mutation	SNP	T	C3N-00547_TP	1536849	73739931	28251258	542	16003											
EFL1	0	.	GRCh38	chr15	82151844	82151844	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgctagttggaagccactCacaatgctattgcccaaatc	11	11	8	11	0	1	0	1	0	0	0	2	1	1	1	2	1	4	4	2	1	5	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2610G>C	p.=	p.V870V	ENST00000268206	18/20	153	133	20	181	181	0	strelka-varscan-mutect	EFL1,synonymous_variant,p.=,ENST00000268206,NM_024580.5;EFL1,synonymous_variant,p.=,ENST00000359445,NM_001040610.2;EFL1,downstream_gene_variant,,ENST00000561340,;	G	ENST00000268206	Transcript	synonymous_variant	2779/3675	2610/3363	870/1120	V	gtG/gtC		1		-1	EFL1	HGNC	HGNC:25789	protein_coding	YES	CCDS42071.1	ENSP00000268206	Q7Z2Z2		UPI00001FEA35	NM_024580.5			18/20		hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF13,Gene3D:3.30.230.10,Superfamily_domains:SSF54211																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	50	82151844	82151844	C	G	1	0	0	0	0	0	0	0	1	4785	813	29	4		4	EFL1	15	82151844	Silent	SNP	C	C3N-00547_TP	8411913	82151844	19839345	543	16004											
NTRK3	0	.	GRCh38	chr15	88032999	88032999	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgccgtggttgatgtggtgCagtgggctggctgagtcctc	4	12	17	8	1	0	2	0	2	0	0	2	2	1	2	2	4	2	4	2	4	0	1			C3N-00547_TP	C3N-00547_NB	C	C																c.1443G>A	p.=	p.L481L	ENST00000360948	14/20	163	143	20	205	205	0	strelka-varscan-mutect	NTRK3,synonymous_variant,p.=,ENST00000394480,NM_002530.3;NTRK3,synonymous_variant,p.=,ENST00000558676,;NTRK3,synonymous_variant,p.=,ENST00000317501,;NTRK3,synonymous_variant,p.=,ENST00000360948,NM_001012338.2;NTRK3,synonymous_variant,p.=,ENST00000357724,;NTRK3,synonymous_variant,p.=,ENST00000355254,NM_001243101.1;NTRK3,synonymous_variant,p.=,ENST00000626019,;NTRK3,synonymous_variant,p.=,ENST00000629765,;NTRK3,synonymous_variant,p.=,ENST00000557856,;NTRK3,synonymous_variant,p.=,ENST00000542733,NM_001320135.1;NTRK3,synonymous_variant,p.=,ENST00000540489,NM_001007156.2;NTRK3,missense_variant,p.Cys26Tyr,ENST00000558306,;	T	ENST00000360948	Transcript	synonymous_variant	1749/3004	1443/2520	481/839	L	ctG/ctA	COSM5454398,COSM5454399,COSM5454400	1		-1	NTRK3	HGNC	HGNC:8033	protein_coding	YES	CCDS32322.1	ENSP00000354207	Q16288	X5D2R1	UPI000006DC82	NM_001012338.2			14/20		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF66											1,1,1						LOW	1	SNV	5		1,1,1	1										PASS		.	.												T	2	4	50	88032999	88032999	C	T	1	0	0	0	0	0	0	0	1	10774	697	25	3		3	NTRK3	15	88032999	Silent	SNP	C	C3N-00547_TP	5881155	88032999	13958190	544	16005											
ACAN	0	.	GRCh38	chr15	88873875	88873875	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccccctgtggtggagcatgCcaggaccttcgggcagaaga	8	6	15	12	1	0	2	0	0	0	2	1	4	0	4	4	4	2	2	4	4	1	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.7367C>G	p.Ala2456Gly	p.A2456G	ENST00000439576	17/18	231	192	39	228	228	0	strelka-varscan-mutect	ACAN,missense_variant,p.Ala2456Gly,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Ala2399Gly,ENST00000617301,;ACAN,missense_variant,p.Ala2418Gly,ENST00000559004,;ACAN,missense_variant,p.Ala2456Gly,ENST00000561243,;ACAN,missense_variant,p.Ala31Gly,ENST00000558704,;ACAN,intron_variant,,ENST00000352105,NM_001135.3;HAPLN3,downstream_gene_variant,,ENST00000359595,NM_178232.2;HAPLN3,downstream_gene_variant,,ENST00000562889,NM_001307952.1;ACAN,downstream_gene_variant,,ENST00000560601,;ACAN,non_coding_transcript_exon_variant,,ENST00000558604,;HAPLN3,downstream_gene_variant,,ENST00000558770,;	G	ENST00000439576	Transcript	missense_variant	7741/8840	7367/7593	2456/2530	A/G	gCc/gGc		1		1	ACAN	HGNC	HGNC:319	protein_coding	YES	CCDS53970.1	ENSP00000387356		E7EX88	UPI0001B23381	NM_013227.3	deleterious(0)		17/18		PROSITE_profiles:PS50923,hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	50	88873875	88873875	C	G	1	0	0	0	0	1	0	0	0	160	739	26	4		4	ACAN	15	88873875	Missense_Mutation	SNP	C	C3N-00547_TP	840876	88873875	13117314	545	16006											
MFGE8	0	.	GRCh38	chr15	88905803	88905803	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgcagagtgcaggccgtGtggcagctcgtggggtacaa	9	6	17	9	3	0	1	0	0	0	1	1	1	0	1	1	4	4	5	1	4	3	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.639C>T	p.=	p.H213H	ENST00000268150	5/8	366	313	53	468	468	0	strelka-varscan-mutect	MFGE8,synonymous_variant,p.=,ENST00000268150,NM_005928.2;MFGE8,synonymous_variant,p.=,ENST00000268151,NM_001114614.1;MFGE8,synonymous_variant,p.=,ENST00000566497,;MFGE8,synonymous_variant,p.=,ENST00000542878,;MFGE8,synonymous_variant,p.=,ENST00000558029,;MFGE8,intron_variant,,ENST00000559997,;MFGE8,upstream_gene_variant,,ENST00000617199,;MFGE8,upstream_gene_variant,,ENST00000560553,;MFGE8,synonymous_variant,p.=,ENST00000613965,;MFGE8,3_prime_UTR_variant,,ENST00000558018,NM_001310320.1;MFGE8,non_coding_transcript_exon_variant,,ENST00000559259,;MFGE8,downstream_gene_variant,,ENST00000558352,;MFGE8,upstream_gene_variant,,ENST00000560937,;MFGE8,downstream_gene_variant,,ENST00000559770,;MFGE8,downstream_gene_variant,,ENST00000558773,;MFGE8,downstream_gene_variant,,ENST00000557944,;MFGE8,downstream_gene_variant,,ENST00000559143,;	A	ENST00000268150	Transcript	synonymous_variant	731/1937	639/1164	213/387	H	caC/caT		1		-1	MFGE8	HGNC	HGNC:7036	protein_coding	YES	CCDS10347.1	ENSP00000268150	Q08431		UPI000013D7A3	NM_005928.2			5/8		PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF303,hmmpanther:PTHR10127,PROSITE_patterns:PS01286,Pfam_domain:PF00754,Gene3D:2.60.120.260,SMART_domains:SM00231,Superfamily_domains:SSF49785																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	88905803	88905803	G	A	1	0	0	0	0	0	0	0	1	9473	1368	48	3		3	MFGE8	15	88905803	Silent	SNP	G	C3N-00547_TP	31928	88905803	13085386	546	16007											
RHCG	0	.	GRCh38	chr15	89496409	89496409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtcgctcaagttcttgtGcgtcctctctgaccaccagt	6	13	8	14	2	3	1	1	1	2	0	6	1	4	1	3	0	1	2	3	0	1	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.136C>A	p.His46Asn	p.H46N	ENST00000268122	1/11	214	155	59	270	270	0	strelka-varscan-mutect	RHCG,missense_variant,p.His46Asn,ENST00000268122,NM_001321041.1,NM_016321.2;RHCG,missense_variant,p.His46Asn,ENST00000560081,;RHCG,missense_variant,p.His46Asn,ENST00000558030,;RHCG,missense_variant,p.His46Asn,ENST00000558184,;	T	ENST00000268122	Transcript	missense_variant	205/1982	136/1440	46/479	H/N	Cac/Aac		1		-1	RHCG	HGNC	HGNC:18140	protein_coding	YES	CCDS10351.1	ENSP00000268122	Q9UBD6		UPI00000343FD	NM_001321041.1,NM_016321.2	tolerated(0.59)		1/11		hmmpanther:PTHR11730,hmmpanther:PTHR11730:SF30																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	89496409	89496409	G	T	1	0	0	0	0	1	0	0	0	13498	1319	46	2		2	RHCG	15	89496409	Missense_Mutation	SNP	G	C3N-00547_TP	590606	89496409	12494780	547	16008											
LRRK1	0	.	GRCh38	chr15	100983647	100983647	+	Silent	SNP	A	A	T																															gacaacccagccgtggtggcAgcgtattttggacacacggc																								novel		C3N-00547_TP	C3N-00547_NB	A	A																c.381A>T	p.=	p.A127A	ENST00000388948	4/34	134	117	17	184	184	0	strelka-varscan-mutect	LRRK1,synonymous_variant,p.=,ENST00000388948,NM_024652.4;LRRK1,synonymous_variant,p.=,ENST00000532029,;LRRK1,synonymous_variant,p.=,ENST00000525284,;LRRK1,synonymous_variant,p.=,ENST00000531270,;	T	ENST00000388948	Transcript	synonymous_variant	740/7671	381/6048	127/2015	A	gcA/gcT		1		1	LRRK1	HGNC	HGNC:18608	protein_coding	YES	CCDS42086.1	ENSP00000373600	Q38SD2		UPI0000D4FE63	NM_024652.4			4/34		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	50	100983647	100983647	A	T	1	0	0	0	0	0	0	0	1	8938	175	7	4		4	LRRK1	15	100983647	Silent	SNP	A	C3N-00547_TP	11487238	100983647	1007542	548	16009	345	2									
LRRK1	0	.	GRCh38	chr15	100983648	100983648	+	Missense_Mutation	SNP	G	G	T																															acaacccagccgtggtggcaGcgtattttggacacacggca																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.382G>T	p.Ala128Ser	p.A128S	ENST00000388948	4/34	132	115	17	187	187	0	strelka-varscan-mutect	LRRK1,missense_variant,p.Ala128Ser,ENST00000388948,NM_024652.4;LRRK1,missense_variant,p.Ala128Ser,ENST00000532029,;LRRK1,missense_variant,p.Ala128Ser,ENST00000525284,;LRRK1,missense_variant,p.Ala128Ser,ENST00000531270,;	T	ENST00000388948	Transcript	missense_variant	741/7671	382/6048	128/2015	A/S	Gcg/Tcg		1		1	LRRK1	HGNC	HGNC:18608	protein_coding	YES	CCDS42086.1	ENSP00000373600	Q38SD2		UPI0000D4FE63	NM_024652.4	tolerated(0.17)		4/34		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	100983648	100983648	G	T	1	0	0	0	0	1	0	0	0	8938	971	34	2		2	LRRK1	15	100983648	Missense_Mutation	SNP	G	C3N-00547_TP	1	100983648	1007541	549	16010	345	2									
CLCN7	0	.	GRCh38	chr16	1460447	1460447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacaatcacagagcccaCgagcacgaaggcggcgttca	13	3	11	14	4	2	1	2	0	0	1	2	3	2	1	2	2	3	2	2	2	2	1	rs764870423		C3N-00547_TP	C3N-00547_NB	C	C																c.565G>T	p.Val189Leu	p.V189L	ENST00000382745	6/25	666	470	196	527	527	0	strelka-varscan-mutect	CLCN7,missense_variant,p.Val189Leu,ENST00000382745,NM_001287.5;CLCN7,missense_variant,p.Val165Leu,ENST00000448525,NM_001114331.2;CLCN7,missense_variant,p.Val165Leu,ENST00000262318,;CLCN7,missense_variant,p.Val131Leu,ENST00000569851,;CLCN7,downstream_gene_variant,,ENST00000564568,;CLCN7,upstream_gene_variant,,ENST00000563822,;CLCN7,upstream_gene_variant,,ENST00000564968,;CLCN7,downstream_gene_variant,,ENST00000567139,;CLCN7,downstream_gene_variant,,ENST00000561665,;	A	ENST00000382745	Transcript	missense_variant	1171/4720	565/2418	189/805	V/L	Gtg/Ttg	rs764870423,COSM4058483	1		-1	CLCN7	HGNC	HGNC:2025	protein_coding	YES	CCDS32361.1	ENSP00000372193	P51798		UPI000004904C	NM_001287.5	tolerated(0.48)		6/25		Gene3D:1otsB00,Pfam_domain:PF00654,Prints_domain:PR01118,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF92,Superfamily_domains:SSF81340,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs764870423	.												A	3	1	50	1460447	1460447	C	A	1	0	0	0	0	1	0	0	0	3232	536	19	1		1	CLCN7	16	1460447	Missense_Mutation	SNP	C	C3N-00547_TP		1460447	88877898	550	16011											
IL32	0	.	GRCh38	chr16	3068989	3068989	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgctcccattccacaGgagctcactcctctacttga	9	11	7	14	0	2	1	1	1	1	0	5	2	5	2	3	2	3	2	3	2	2	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.340-1G>A		p.X114_splice	ENST00000534507		30	19	11	22	22	0	strelka-varscan-mutect	IL32,splice_acceptor_variant,,ENST00000525643,;IL32,splice_acceptor_variant,,ENST00000526464,;IL32,splice_acceptor_variant,,ENST00000534507,;IL32,splice_acceptor_variant,,ENST00000325568,NM_001012718.1,NM_004221.4;IL32,splice_acceptor_variant,,ENST00000396890,;IL32,splice_acceptor_variant,,ENST00000008180,NM_001012634.1;IL32,splice_acceptor_variant,,ENST00000613483,;IL32,splice_acceptor_variant,,ENST00000548476,;IL32,splice_acceptor_variant,,ENST00000528163,NM_001012631.1;IL32,splice_acceptor_variant,,ENST00000440815,;IL32,splice_acceptor_variant,,ENST00000444393,;IL32,splice_acceptor_variant,,ENST00000382213,NM_001012636.1;IL32,splice_acceptor_variant,,ENST00000533097,;IL32,splice_acceptor_variant,,ENST00000548652,;IL32,splice_acceptor_variant,,ENST00000548807,;IL32,splice_acceptor_variant,,ENST00000551513,;IL32,splice_acceptor_variant,,ENST00000396887,NM_001012633.1;IL32,splice_acceptor_variant,,ENST00000530890,NM_001012635.1;IL32,splice_acceptor_variant,,ENST00000529550,;IL32,splice_acceptor_variant,,ENST00000531965,;IL32,splice_acceptor_variant,,ENST00000551122,;IL32,splice_acceptor_variant,,ENST00000552664,NM_001012632.1;IL32,splice_acceptor_variant,,ENST00000552936,;IL32,splice_acceptor_variant,,ENST00000530538,;IL32,splice_acceptor_variant,,ENST00000529699,;IL32,splice_acceptor_variant,,ENST00000549213,;IL32,splice_acceptor_variant,,ENST00000552356,;IL32,splice_acceptor_variant,,ENST00000525228,;IL32,splice_acceptor_variant,,ENST00000548246,;IL32,intron_variant,,ENST00000525377,;RNU1-125P,upstream_gene_variant,,ENST00000516752,;IL32,splice_acceptor_variant,,ENST00000525003,;IL32,splice_acceptor_variant,,ENST00000528652,;IL32,downstream_gene_variant,,ENST00000532247,;IL32,downstream_gene_variant,,ENST00000532086,;IL32,downstream_gene_variant,,ENST00000534748,;	A	ENST00000534507	Transcript	splice_acceptor_variant	-/1112	340/705	114/234				1		1	IL32	HGNC	HGNC:16830	protein_coding	YES	CCDS76811.1	ENSP00000431775	P24001		UPI0000070836					5/5																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	50	3068989	3068989	G	A	1	0	0	0	0	0	0	1	0	7591	1014	35	3		3	IL32	16	3068989	Splice_Site	SNP	G	C3N-00547_TP	1608542	3068989	87269356	551	16012											
SEPT12	0	.	GRCh38	chr16	4786006	4786006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgaatgcagctgcagcGtctggggtgtgggcaccccc	6	8	15	12	1	2	1	1	1	1	0	2	1	2	1	2	3	4	4	2	3	1	0	rs199696526		C3N-00547_TP	C3N-00547_NB	G	G																c.266C>T	p.Thr89Met	p.T89M	ENST00000268231	3/10	168	156	12	107	107	0	strelka-varscan-mutect	SEPT12,missense_variant,p.Thr89Met,ENST00000268231,NM_144605.4;SEPT12,missense_variant,p.Thr89Met,ENST00000396693,NM_001154458.2;SMIM22,upstream_gene_variant,,ENST00000615889,NM_001253791.1;SMIM22,upstream_gene_variant,,ENST00000615471,;SMIM22,upstream_gene_variant,,ENST00000589721,NM_001253790.1;SMIM22,upstream_gene_variant,,ENST00000589327,;SEPT12,downstream_gene_variant,,ENST00000591624,;SEPT12,non_coding_transcript_exon_variant,,ENST00000591861,;SEPT12,missense_variant,p.Thr89Met,ENST00000587603,;SEPT12,3_prime_UTR_variant,,ENST00000590741,;SEPT12,non_coding_transcript_exon_variant,,ENST00000590303,;SMIM22,upstream_gene_variant,,ENST00000591004,;SEPT12,upstream_gene_variant,,ENST00000588241,;	A	ENST00000268231	Transcript	missense_variant	530/1469	266/1077	89/358	T/M	aCg/aTg	rs199696526,CM122363,COSM2149323	1		-1	SEPT12	HGNC	HGNC:26348	protein_coding	YES	CCDS10522.1	ENSP00000268231	Q8IYM1		UPI000007422A	NM_144605.4	deleterious(0.01)		3/10		PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF66,Pfam_domain:PF00735,Gene3D:3.40.50.300,PIRSF_domain:PIRSF006698,Superfamily_domains:SSF52540										risk_factor	0,0,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs199696526	.												A	3	1	50	4786006	4786006	G	A	1	0	0	0	0	1	0	0	0	14338	1145	40	1		1	SEPT12	16	4786006	Missense_Mutation	SNP	G	C3N-00547_TP	1717017	4786006	85552339	552	16013											
ZC3H7A	0	.	GRCh38	chr16	11765652	11765652	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aataagcaaacgtgcagtggCctgaatatctacattcctcc	13	10	7	11	1	1	1	0	1	1	0	3	1	3	1	3	1	4	2	3	1	6	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1556G>T	p.Gly519Val	p.G519V	ENST00000396516	13/22	156	118	38	99	98	1	strelka-varscan-mutect	ZC3H7A,missense_variant,p.Gly519Val,ENST00000396516,;ZC3H7A,missense_variant,p.Gly519Val,ENST00000355758,NM_014153.3;ZC3H7A,missense_variant,p.Gly429Val,ENST00000571198,;ZC3H7A,downstream_gene_variant,,ENST00000576009,;ZC3H7A,3_prime_UTR_variant,,ENST00000575041,;ZC3H7A,non_coding_transcript_exon_variant,,ENST00000571676,;ZC3H7A,non_coding_transcript_exon_variant,,ENST00000576247,;ZC3H7A,upstream_gene_variant,,ENST00000571405,;ZC3H7A,upstream_gene_variant,,ENST00000572938,;ZC3H7A,upstream_gene_variant,,ENST00000570862,;	A	ENST00000396516	Transcript	missense_variant	1754/3845	1556/2916	519/971	G/V	gGc/gTc		1		-1	ZC3H7A	HGNC	HGNC:30959	protein_coding	YES	CCDS10550.1	ENSP00000379773	Q8IWR0		UPI000000DB79		deleterious(0.01)		13/22		hmmpanther:PTHR14928,hmmpanther:PTHR14928:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	11765652	11765652	C	A	1	0	0	0	0	1	0	0	0	18147	739	26	2		2	ZC3H7A	16	11765652	Missense_Mutation	SNP	C	C3N-00547_TP	6979646	11765652	78572693	553	16014											
SNX29	0	.	GRCh38	chr16	12477806	12477806	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accacaagttacaaaacaagTaccctcaagtgagggcctac	16	6	7	12	0	1	1	1	1	0	0	1	1	1	1	3	1	4	2	3	1	8	3			C3N-00547_TP	C3N-00547_NB	T	T																c.2125T>A	p.Tyr709Asn	p.Y709N	ENST00000566228	19/21	126	99	27	115	115	0	strelka-varscan-mutect	SNX29,missense_variant,p.Tyr709Asn,ENST00000566228,NM_032167.4;SNX29,missense_variant,p.Tyr198Asn,ENST00000564791,;	A	ENST00000566228	Transcript	missense_variant	2194/8171	2125/2442	709/813	Y/N	Tac/Aac	COSM5054628,COSM5054629,COSM5054630	1		1	SNX29	HGNC	HGNC:30542	protein_coding	YES	CCDS10553.2	ENSP00000456480	Q8TEQ0		UPI00000382F9	NM_032167.4	tolerated(0.39)		19/21		PROSITE_profiles:PS50195,Gene3D:3.30.1520.10,Pfam_domain:PF00787,SMART_domains:SM00312,Superfamily_domains:SSF64268											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												A	3	1	50	12477806	12477806	T	A	1	0	0	0	0	1	0	0	0	15219	1638	57	4		4	SNX29	16	12477806	Missense_Mutation	SNP	T	C3N-00547_TP	712154	12477806	77860539	554	16015											
NPIPA5	0	.	GRCh38	chr16	15365233	15365233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttagaatattagatggggGccccactgggtggggatgaa	11	9	15	6	0	0	3	0	1	0	2	0	4	0	4	2	5	0	0	2	5	5	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.895C>A	p.Pro299Thr	p.P299T	ENST00000534094	7/7	362	268	94	470	470	0	strelka-varscan-mutect	NPIPA5,missense_variant,p.Pro299Thr,ENST00000534094,;NPIPA5,intron_variant,,ENST00000360151,NM_001277325.1;NPIPA5,intron_variant,,ENST00000543801,;RP11-72I8.2,downstream_gene_variant,,ENST00000611162,;	T	ENST00000534094	Transcript	missense_variant	895/954	895/954	299/317	P/T	Ccc/Acc		1		-1	NPIPA5	HGNC	HGNC:41980	protein_coding			ENSP00000435611		E9PJ88	UPI0001A5E893		deleterious_low_confidence(0)		7/7																			MODERATE		SNV	5			1										PASS		rs1416350371	.												T	3	4	50	15365233	15365233	G	T	1	0	0	0	0	1	0	0	0	10634	1203	42	2		2	NPIPA5	16	15365233	Missense_Mutation	SNP	G	C3N-00547_TP	2887427	15365233	74973112	555	16016											
ERN2	0	.	GRCh38	chr16	23700677	23700677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgccaggggggtctcctGctgcttctccaccacctgcg	4	9	13	15	1	2	0	0	0	2	0	4	0	2	0	5	4	4	2	5	4	0	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1531C>A	p.Gln511Lys	p.Q511K	ENST00000634482	13/22	101	72	29	82	82	0	strelka-varscan-mutect	ERN2,missense_variant,p.Gln511Lys,ENST00000634482,NM_033266.3;ERN2,missense_variant,p.Gln463Lys,ENST00000256797,;ERN2,missense_variant,p.Gln411Lys,ENST00000457008,NM_001308220.1;CTD-2196E14.8,upstream_gene_variant,,ENST00000624143,;ERN2,3_prime_UTR_variant,,ENST00000562562,;	T	ENST00000634482	Transcript	missense_variant	1700/3616	1531/2925	511/974	Q/K	Cag/Aag		1		-1	ERN2	HGNC	HGNC:16942	protein_coding	YES	CCDS32407.1	ENSP00000489461		A0A0U1RRC7	UPI000041A8F8	NM_033266.3	tolerated(0.47)		13/22		Low_complexity_(Seg):seg,hmmpanther:PTHR13954,hmmpanther:PTHR13954:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	23700677	23700677	G	T	1	0	0	0	0	1	0	0	0	5096	1328	46	2		2	ERN2	16	23700677	Missense_Mutation	SNP	G	C3N-00547_TP	8335444	23700677	66637668	556	16017											
C16orf82	0	.	GRCh38	chr16	27067253	27067253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggagggcagccatgccagCctgagcagcgggtacgcagg	9	3	18	11	2	0	1	0	1	0	0	0	3	0	2	3	4	6	4	3	4	1	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.447C>A	p.Ser149Arg	p.S149R	ENST00000505035	1/1	343	235	108	350	349	1	strelka-varscan-mutect	C16orf82,missense_variant,p.Ser149Arg,ENST00000505035,;C16orf82,missense_variant,p.Ser86Arg,ENST00000418886,NM_001145545.1;RP11-673P17.2,intron_variant,,ENST00000565783,;	A	ENST00000505035	Transcript	missense_variant	547/2459	447/654	149/217	S/R	agC/agA		1		1	C16orf82	HGNC	HGNC:30755	protein_coding	YES		ENSP00000489874	Q7Z2V1		UPI00001B3F63		deleterious(0.01)		1/1		Pfam_domain:PF15765,hmmpanther:PTHR40139,hmmpanther:PTHR40139:SF1																	MODERATE		SNV				1										PASS		.	.												A	3	1	50	27067253	27067253	C	A	1	0	0	0	0	1	0	0	0	1867	738	26	2		2	C16orf82	16	27067253	Missense_Mutation	SNP	C	C3N-00547_TP	3366576	27067253	63271092	557	16018											
GTF3C1	0	.	GRCh38	chr16	27470189	27470189	+	Frame_Shift_Del	DEL	C	C	-																															tgacatccacagaaatgaggCccagagagaagagggtcagg																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.4733delG	p.Gly1578AlafsTer16	p.G1578Afs*16	ENST00000356183	31/37	285	210	75	284	284	0	sindel-pindel	GTF3C1,frameshift_variant,p.Gly1578AlafsTer16,ENST00000356183,NM_001520.3;GTF3C1,frameshift_variant,p.Gly1578AlafsTer16,ENST00000561623,NM_001286242.1;GTF3C1,intron_variant,,ENST00000569653,;GTF3C1,non_coding_transcript_exon_variant,,ENST00000567843,;GTF3C1,3_prime_UTR_variant,,ENST00000571886,;GTF3C1,upstream_gene_variant,,ENST00000562609,;GTF3C1,downstream_gene_variant,,ENST00000564664,;GTF3C1,downstream_gene_variant,,ENST00000569394,;	-	ENST00000356183	Transcript	frameshift_variant	4749/7018	4733/6330	1578/2109	G/X	gGc/gc		1		-1	GTF3C1	HGNC	HGNC:4664	protein_coding	YES	CCDS32414.1	ENSP00000348510	Q12789		UPI00001FF123	NM_001520.3			31/37		hmmpanther:PTHR15180,hmmpanther:PTHR15180:SF1																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	50	27470189	27470189	C	-	1	0	1	0	1	0	0	0	0	6753	739	26	0		0	GTF3C1	16	27470189	Frame_Shift_Del	DEL	C	C3N-00547_TP	402936	27470189	62868156	558	16019											
KIAA0556	0	.	GRCh38	chr16	27749652	27749652	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggagcacacacttcacGagtcatggagctccctcagt	11	7	10	13	1	3	0	3	0	0	0	4	3	4	2	1	2	3	3	1	2	0	1	rs376515834		C3N-00547_TP	C3N-00547_NB	G	G																c.2692G>T	p.Glu898Ter	p.E898*	ENST00000261588	16/28	56	33	23	55	55	0	strelka-varscan-mutect	KIAA0556,stop_gained,p.Glu898Ter,ENST00000261588,NM_015202.2;KIAA0556,non_coding_transcript_exon_variant,,ENST00000573850,;	T	ENST00000261588	Transcript	stop_gained	2711/6616	2692/4857	898/1618	E/*	Gag/Tag	rs376515834	1		1	KIAA0556	HGNC	HGNC:29068	protein_coding	YES	CCDS32415.1	ENSP00000261588	O60303		UPI000045693C	NM_015202.2			16/28		hmmpanther:PTHR21534:SF0,hmmpanther:PTHR21534																	HIGH	1	SNV	1			1										PASS		rs376515834	.												T	4	4	50	27749652	27749652	G	T	1	0	0	0	0	0	1	0	0	8088	1059	37	1		1	KIAA0556	16	27749652	Nonsense_Mutation	SNP	G	C3N-00547_TP	279463	27749652	62588693	559	16020											
IL27	0	.	GRCh38	chr16	28503903	28503903	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcctggccccgaaccTcggagagcagcttcctggcg	5	6	16	14	3	0	1	0	0	0	1	2	3	1	1	5	5	3	2	5	5	1	1	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.179A>T	p.Glu60Val	p.E60V	ENST00000356897	2/5	168	130	38	197	197	0	strelka-varscan-mutect	IL27,missense_variant,p.Glu60Val,ENST00000356897,NM_145659.3;IL27,5_prime_UTR_variant,,ENST00000568075,;APOBR,downstream_gene_variant,,ENST00000564831,NM_018690.3;APOBR,downstream_gene_variant,,ENST00000431282,;	A	ENST00000356897	Transcript	missense_variant	202/1044	179/732	60/243	E/V	gAg/gTg		1		-1	IL27	HGNC	HGNC:19157	protein_coding	YES	CCDS10633.1	ENSP00000349365	Q8NEV9		UPI0000141330	NM_145659.3	deleterious(0)		2/5		hmmpanther:PTHR20879,hmmpanther:PTHR20879:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	28503903	28503903	T	A	1	0	0	0	0	1	0	0	0	7583	1551	54	4		4	IL27	16	28503903	Missense_Mutation	SNP	T	C3N-00547_TP	754251	28503903	61834442	560	16021											
TMEM265	0	.	GRCh38	chr16	30743843	30743843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctggggggcccgggcccGgaaactcatcctggccagct	5	5	16	15	3	1	0	1	0	0	0	2	1	2	1	4	6	2	2	4	6	1	0	rs552279036		C3N-00547_TP	C3N-00547_NB	G	G																c.227G>T	p.Arg76Leu	p.R76L	ENST00000615541	3/3	157	113	44	150	150	0	strelka-varscan-mutect	TMEM265,missense_variant,p.Arg76Leu,ENST00000615541,NM_001256829.1;SRCAP,downstream_gene_variant,,ENST00000262518,NM_006662.2;SRCAP,downstream_gene_variant,,ENST00000395059,;PHKG2,upstream_gene_variant,,ENST00000563588,NM_000294.2;PHKG2,upstream_gene_variant,,ENST00000424889,NM_001172432.1;PHKG2,upstream_gene_variant,,ENST00000328273,;PHKG2,upstream_gene_variant,,ENST00000565897,;PHKG2,upstream_gene_variant,,ENST00000565924,;RP11-2C24.4,intron_variant,,ENST00000483578,;RP11-2C24.9,3_prime_UTR_variant,,ENST00000380361,;PHKG2,upstream_gene_variant,,ENST00000563913,;PHKG2,upstream_gene_variant,,ENST00000564838,;PHKG2,upstream_gene_variant,,ENST00000563607,;	T	ENST00000615541	Transcript	missense_variant	557/995	227/327	76/108	R/L	cGg/cTg	rs552279036	1		1	TMEM265	HGNC	HGNC:51241	protein_coding	YES	CCDS73870.1	ENSP00000477871	A0A087WTH1		UPI0000D4C221	NM_001256829.1	tolerated(0.07)		3/3		Pfam_domain:PF04505																	MODERATE	1	SNV	1			1										PASS		rs552279036	.												T	3	4	50	30743843	30743843	G	T	1	0	0	0	0	1	0	0	0	16625	1116	39	1		1	TMEM265	16	30743843	Missense_Mutation	SNP	G	C3N-00547_TP	2239940	30743843	59594502	561	16022											
ITGAM	0	.	GRCh38	chr16	31297612	31297612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccccattactacgagcaGacccgagggggccaggtgtc	8	5	13	15	2	0	1	0	0	0	1	1	3	0	1	5	3	3	1	5	3	2	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1455G>T	p.Gln485His	p.Q485H	ENST00000544665	13/30	155	107	48	208	207	1	strelka-varscan-mutect	ITGAM,missense_variant,p.Gln485His,ENST00000544665,NM_001145808.1;ITGAM,missense_variant,p.Gln485His,ENST00000287497,NM_000632.3;ITGAM,missense_variant,p.Asp138Tyr,ENST00000567031,;	T	ENST00000544665	Transcript	missense_variant	1526/4718	1455/3462	485/1153	Q/H	caG/caT		1		1	ITGAM	HGNC	HGNC:6149	protein_coding	YES	CCDS54004.1	ENSP00000441691	P11215		UPI000004B26A	NM_001145808.1	deleterious(0.04)		13/30		Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,SMART_domains:SM00191,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	31297612	31297612	G	T	1	0	0	0	0	1	0	0	0	7794	933	33	2		2	ITGAM	16	31297612	Missense_Mutation	SNP	G	C3N-00547_TP	553769	31297612	59040733	562	16023											
ITGAX	0	.	GRCh38	chr16	31362091	31362091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggatggccccgttctggGggctgtggggagcttcacct	4	9	16	12	1	2	0	1	0	1	0	2	2	2	2	4	6	1	3	4	6	0	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1103G>T	p.Gly368Val	p.G368V	ENST00000562522	11/31	304	224	80	233	233	0	strelka-varscan-mutect	ITGAX,missense_variant,p.Gly368Val,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Gly368Val,ENST00000562522,NM_001286375.1;ITGAX,downstream_gene_variant,,ENST00000562918,;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,downstream_gene_variant,,ENST00000567409,;RP11-120K18.3,upstream_gene_variant,,ENST00000561830,;	T	ENST00000562522	Transcript	missense_variant	1136/3990	1103/3510	368/1169	G/V	gGg/gTg		1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	deleterious(0)		11/31		Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	31362091	31362091	G	T	1	0	0	0	0	1	0	0	0	7796	1232	43	2		2	ITGAX	16	31362091	Missense_Mutation	SNP	G	C3N-00547_TP	64479	31362091	58976254	563	16024											
BRD7	0	.	GRCh38	chr16	50334794	50334794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctgccagcagcctccGtcctccccactctgtgaggt	4	11	8	18	1	3	1	0	1	3	0	7	1	6	1	6	1	3	1	6	1	0	0	rs776310283		C3N-00547_TP	C3N-00547_NB	G	G																c.804C>A	p.Asp268Glu	p.D268E	ENST00000394689	7/17	286	267	19	194	194	0	varscan-mutect	BRD7,missense_variant,p.Asp268Glu,ENST00000394688,NM_013263.4;BRD7,missense_variant,p.Asp268Glu,ENST00000394689,NM_001173984.2;BRD7,non_coding_transcript_exon_variant,,ENST00000475877,;	T	ENST00000394689	Transcript	missense_variant	809/2145	804/1959	268/652	D/E	gaC/gaA	rs776310283	1		-1	BRD7	HGNC	HGNC:14310	protein_coding	YES	CCDS54007.1	ENSP00000378181	Q9NPI1		UPI000013E567	NM_001173984.2	tolerated(0.34)		7/17		hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF12																	MODERATE	1	SNV	1			1										PASS		rs776310283	.												T	3	4	50	50334794	50334794	G	T	1	0	0	0	0	1	0	0	0	1675	1136	40	1		1	BRD7	16	50334794	Missense_Mutation	SNP	G	C3N-00547_TP	18972703	50334794	40003551	564	16025											
SALL1	0	.	GRCh38	chr16	51139332	51139332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaagccccaccattcactgGggtgggagacaaaccattgg	12	6	11	12	0	1	1	1	0	0	1	1	2	1	1	4	4	2	0	4	4	2	2			C3N-00547_TP	C3N-00547_NB	G	G																c.2890C>A	p.Pro964Thr	p.P964T	ENST00000251020	2/3	762	719	43	511	509	2	strelka-varscan-mutect	SALL1,missense_variant,p.Pro867Thr,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Pro964Thr,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Pro867Thr,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	T	ENST00000251020	Transcript	missense_variant	2924/5146	2890/3975	964/1324	P/T	Cca/Aca	COSM4485088	1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	tolerated(0.08)		2/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	50	51139332	51139332	G	T	1	0	0	0	0	1	0	0	0	14069	1232	43	2		2	SALL1	16	51139332	Missense_Mutation	SNP	G	C3N-00547_TP	804538	51139332	39199013	565	16026											
SALL1	0	.	GRCh38	chr16	51141747	51141747	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgccgccgccgccgcTgctgctgctgctgctgctgc	1	8	15	17	4	0	0	0	0	0	0	0	1	0	1	4	1	9	8	4	1	0	0	rs13336129		C3N-00547_TP	C3N-00547_NB	T	T																c.475A>G	p.Ser159Gly	p.S159G	ENST00000251020	2/3	440	416	24	390	383	7	varscan-mutect	SALL1,missense_variant,p.Ser62Gly,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Ser159Gly,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Ser62Gly,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	C	ENST00000251020	Transcript	missense_variant	509/5146	475/3975	159/1324	S/G	Agc/Ggc	rs13336129	1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	tolerated(0.39)		2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51																	MODERATE	1	SNV	1			1										PASS		rs13336129	.												C	3	2	50	51141747	51141747	T	C	1	0	0	0	0	1	0	0	0	14069	1580	55	5		5	SALL1	16	51141747	Missense_Mutation	SNP	T	C3N-00547_TP	2415	51141747	39196598	566	16027											
CHD9	0	.	GRCh38	chr16	53304579	53304579	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcctcctcctcttcatcTtcatcagaagaaagtgacag	10	12	5	14	0	5	3	3	1	2	2	9	3	9	3	4	0	0	0	4	0	2	2	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.6573T>G	p.=	p.S2191S	ENST00000447540	31/39	159	143	16	134	134	0	strelka-varscan-mutect	CHD9,synonymous_variant,p.=,ENST00000566029,NM_025134.4;CHD9,synonymous_variant,p.=,ENST00000447540,NM_001308319.1;CHD9,synonymous_variant,p.=,ENST00000564845,;CHD9,synonymous_variant,p.=,ENST00000398510,;CHD9,intron_variant,,ENST00000615216,;CHD9,intron_variant,,ENST00000622617,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;RP11-454F8.2,downstream_gene_variant,,ENST00000566796,;	G	ENST00000447540	Transcript	synonymous_variant	6782/11509	6573/8694	2191/2897	S	tcT/tcG		1		1	CHD9	HGNC	HGNC:25701	protein_coding	YES	CCDS76865.1	ENSP00000396345	Q3L8U1		UPI0000E02AC8	NM_001308319.1			31/39		Low_complexity_(Seg):seg,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	50	53304579	53304579	T	G	1	0	0	0	0	0	0	0	1	3091	1596	56	5		5	CHD9	16	53304579	Silent	SNP	T	C3N-00547_TP	2162832	53304579	37033766	567	16028											
EDC4	0	.	GRCh38	chr16	67881137	67881137	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgaccaccatatcacCtgctgcagcaacgtgacagc	11	6	7	17	2	1	1	1	1	0	0	2	2	2	1	5	0	5	3	5	0	2	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2593C>T	p.=	p.L865L	ENST00000358933	19/29	304	264	40	295	295	0	strelka-varscan-mutect	EDC4,synonymous_variant,p.=,ENST00000358933,NM_014329.4;NRN1L,upstream_gene_variant,,ENST00000339176,NM_198443.1;NRN1L,upstream_gene_variant,,ENST00000576147,;EDC4,upstream_gene_variant,,ENST00000577105,;EDC4,upstream_gene_variant,,ENST00000575033,;EDC4,upstream_gene_variant,,ENST00000573985,;NRN1L,upstream_gene_variant,,ENST00000576758,;CTC-479C5.10,upstream_gene_variant,,ENST00000572067,;EDC4,downstream_gene_variant,,ENST00000574770,;EDC4,non_coding_transcript_exon_variant,,ENST00000572221,;EDC4,non_coding_transcript_exon_variant,,ENST00000573992,;EDC4,non_coding_transcript_exon_variant,,ENST00000575514,;EDC4,non_coding_transcript_exon_variant,,ENST00000576972,;EDC4,non_coding_transcript_exon_variant,,ENST00000577028,;EDC4,non_coding_transcript_exon_variant,,ENST00000572724,;EDC4,downstream_gene_variant,,ENST00000536072,;EDC4,downstream_gene_variant,,ENST00000572031,;EDC4,upstream_gene_variant,,ENST00000575507,;	T	ENST00000358933	Transcript	synonymous_variant	2832/4800	2593/4206	865/1401	L	Ctg/Ttg		1		1	EDC4	HGNC	HGNC:17157	protein_coding	YES	CCDS10849.1	ENSP00000351811	Q6P2E9		UPI0000141377	NM_014329.4			19/29		hmmpanther:PTHR15598,hmmpanther:PTHR15598:SF5																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	67881137	67881137	C	T	1	0	0	0	0	0	0	0	1	4736	680	24	3		3	EDC4	16	67881137	Silent	SNP	C	C3N-00547_TP	14576558	67881137	22457208	568	16029											
HAS3	0	.	GRCh38	chr16	69114391	69114391	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcctgagcagcgtgcggTactggatggccttcaacgtg	6	10	13	12	3	1	1	1	1	0	0	2	2	2	2	3	3	5	2	3	3	2	3	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.787T>A	p.Tyr263Asn	p.Y263N	ENST00000306560	4/4	117	77	40	112	112	0	strelka-varscan-mutect	HAS3,missense_variant,p.Tyr263Asn,ENST00000306560,NM_005329.2;HAS3,missense_variant,p.Tyr263Asn,ENST00000569188,NM_001199280.1;HAS3,missense_variant,p.Tyr263Asn,ENST00000566118,;HAS3,intron_variant,,ENST00000219322,NM_138612.2;CHTF8,downstream_gene_variant,,ENST00000448552,NM_001039690.3;CHTF8,downstream_gene_variant,,ENST00000306585,;CHTF8,downstream_gene_variant,,ENST00000523421,;CHTF8,downstream_gene_variant,,ENST00000518041,;CHTF8,downstream_gene_variant,,ENST00000519534,;	A	ENST00000306560	Transcript	missense_variant	943/4220	787/1662	263/553	Y/N	Tac/Aac		1		1	HAS3	HGNC	HGNC:4820	protein_coding	YES	CCDS10871.1	ENSP00000304440	O00219		UPI000013EB57	NM_005329.2	deleterious(0)		4/4		hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF6,Pfam_domain:PF13641,Gene3D:3.90.550.10,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	69114391	69114391	T	A	1	0	0	0	0	1	0	0	0	6849	1638	57	4		4	HAS3	16	69114391	Missense_Mutation	SNP	T	C3N-00547_TP	1233254	69114391	21223954	569	16030											
CNTNAP4	0	.	GRCh38	chr16	76521258	76521258	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagacaacagcttcatctggGgtatttttagagaacttggg	12	12	11	6	0	2	2	1	0	1	2	2	3	2	2	0	3	3	2	0	3	5	6	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2484G>T	p.=	p.G828G	ENST00000611870	16/24	153	124	29	204	203	1	strelka-varscan-mutect	CNTNAP4,synonymous_variant,p.=,ENST00000307431,;CNTNAP4,synonymous_variant,p.=,ENST00000611870,NM_033401.3;CNTNAP4,synonymous_variant,p.=,ENST00000377504,;CNTNAP4,synonymous_variant,p.=,ENST00000476707,;CNTNAP4,synonymous_variant,p.=,ENST00000622250,;CNTNAP4,synonymous_variant,p.=,ENST00000478060,NM_138994.3;	T	ENST00000611870	Transcript	synonymous_variant	2869/4867	2484/3927	828/1308	G	ggG/ggT		1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3			16/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659,SMART_domains:SM00282,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		rs995474100	.												T	2	4	50	76521258	76521258	G	T	1	0	0	0	0	0	0	0	1	3431	1219	43	2		2	CNTNAP4	16	76521258	Silent	SNP	G	C3N-00547_TP	7406867	76521258	13817087	570	16031											
ADAMTS18	0	.	GRCh38	chr16	77367576	77367576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagagccggggtagccacGgtaccgctggatcttctcct	6	8	13	14	3	2	1	0	0	2	1	3	2	2	2	5	4	3	3	5	4	2	3	rs760054443		C3N-00547_TP	C3N-00547_NB	G	G																c.643C>T	p.Arg215Cys	p.R215C	ENST00000282849	4/23	584	501	83	500	500	0	strelka-varscan-mutect	ADAMTS18,missense_variant,p.Arg215Cys,ENST00000282849,NM_001326358.1,NM_199355.2;ADAMTS18,missense_variant,p.Arg130Cys,ENST00000562345,;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000567121,;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000564369,;ADAMTS18,missense_variant,p.Arg215Cys,ENST00000449265,;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000567914,;ADAMTS18,downstream_gene_variant,,ENST00000569309,;	A	ENST00000282849	Transcript	missense_variant	1062/5913	643/3666	215/1221	R/C	Cgt/Tgt	rs760054443	1		-1	ADAMTS18	HGNC	HGNC:17110	protein_coding	YES	CCDS10926.1	ENSP00000282849	Q8TE60		UPI0000233610	NM_001326358.1,NM_199355.2	tolerated(0.14)		4/23		hmmpanther:PTHR13723:SF167,hmmpanther:PTHR13723																	MODERATE	1	SNV	1			1										PASS		rs760054443	.												A	3	1	50	77367576	77367576	G	A	1	0	0	0	0	1	0	0	0	307	1116	39	1		1	ADAMTS18	16	77367576	Missense_Mutation	SNP	G	C3N-00547_TP	846318	77367576	12970769	571	16032											
CENPN	0	.	GRCh38	chr16	81012064	81012064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	actgcagactgtaaatttccGacagagaaaggaatctgtag	15	9	10	7	1	1	2	0	0	1	2	2	5	2	3	1	1	1	3	1	1	5	3	rs144532651		C3N-00547_TP	C3N-00547_NB	G	G																c.125G>C	p.Arg42Pro	p.R42P	ENST00000393335	2/11	156	133	23	156	156	0	strelka-varscan-mutect	CENPN,missense_variant,p.Arg42Pro,ENST00000305850,NM_001100624.2;CENPN,missense_variant,p.Arg42Pro,ENST00000439957,NM_001270473.1;CENPN,missense_variant,p.Arg42Pro,ENST00000393335,NM_001100625.2;CENPN,missense_variant,p.Arg42Pro,ENST00000299572,NM_018455.5;CENPN,missense_variant,p.Arg42Pro,ENST00000428963,NM_001270474.1;CENPN,missense_variant,p.Arg42Pro,ENST00000564669,;CMC2,intron_variant,,ENST00000565914,;CMC2,upstream_gene_variant,,ENST00000219400,;RP11-303E16.3,downstream_gene_variant,,ENST00000562315,;CENPN,non_coding_transcript_exon_variant,,ENST00000569461,;CENPN,missense_variant,p.Arg42Pro,ENST00000568445,;	C	ENST00000393335	Transcript	missense_variant	199/1556	125/1062	42/353	R/P	cGa/cCa	rs144532651	1		1	CENPN	HGNC	HGNC:30873	protein_coding	YES	CCDS42199.1	ENSP00000377007	Q96H22		UPI000059D3C7	NM_001100625.2	deleterious(0.04)		2/11		Pfam_domain:PF05238,hmmpanther:PTHR12309,hmmpanther:PTHR12309:SF12																	MODERATE		SNV	2			1										PASS		rs144532651	.												C	3	2	50	81012064	81012064	G	C	1	0	0	0	0	1	0	0	0	2946	1058	37	4		4	CENPN	16	81012064	Missense_Mutation	SNP	G	C3N-00547_TP	3644488	81012064	9326281	572	16033											
CRISPLD2	0	.	GRCh38	chr16	84849491	84849491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgtccagagaggtgctcgGggcccatgtgcacgcactac	7	7	15	12	2	0	1	0	0	0	1	2	2	1	1	2	4	3	3	2	4	1	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.466G>T	p.Gly156Trp	p.G156W	ENST00000262424	4/15	160	138	22	115	115	0	strelka-varscan-mutect	CRISPLD2,missense_variant,p.Gly156Trp,ENST00000262424,NM_031476.3;CRISPLD2,missense_variant,p.Gly156Trp,ENST00000567845,;CRISPLD2,missense_variant,p.Gly156Trp,ENST00000564567,;CRISPLD2,5_prime_UTR_variant,,ENST00000563066,;CRISPLD2,5_prime_UTR_variant,,ENST00000566789,;CRISPLD2,downstream_gene_variant,,ENST00000569090,;CRISPLD2,non_coding_transcript_exon_variant,,ENST00000566431,;CRISPLD2,non_coding_transcript_exon_variant,,ENST00000569262,;	T	ENST00000262424	Transcript	missense_variant	690/4586	466/1494	156/497	G/W	Ggg/Tgg		1		1	CRISPLD2	HGNC	HGNC:25248	protein_coding	YES	CCDS10949.1	ENSP00000262424	Q9H0B8	A0A140VK80	UPI00000411B0	NM_031476.3	deleterious(0.01)		4/15		Gene3D:3.40.33.10,Pfam_domain:PF00188,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF64,SMART_domains:SM00198,Superfamily_domains:SSF55797																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	84849491	84849491	G	T	1	0	0	0	0	1	0	0	0	3684	1232	43	2		2	CRISPLD2	16	84849491	Missense_Mutation	SNP	G	C3N-00547_TP	3837427	84849491	5488854	573	16034											
RPA1	0	.	GRCh38	chr17	1879356	1879356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttacctacggttcagtttGatttcacggggattgatgac	9	15	10	7	2	2	3	2	3	0	0	2	4	2	4	1	3	2	2	1	3	2	7	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.901G>T	p.Asp301Tyr	p.D301Y	ENST00000254719	10/17	118	100	18	152	152	0	strelka-varscan-mutect	RPA1,missense_variant,p.Asp301Tyr,ENST00000254719,NM_002945.3;RPA1,missense_variant,p.Asp57Tyr,ENST00000574049,;RPA1,downstream_gene_variant,,ENST00000570451,;RPA1,downstream_gene_variant,,ENST00000573924,;	T	ENST00000254719	Transcript	missense_variant	1011/4340	901/1851	301/616	D/Y	Gat/Tat		1		1	RPA1	HGNC	HGNC:10289	protein_coding	YES	CCDS11014.1	ENSP00000254719	P27694		UPI000013379A	NM_002945.3	deleterious(0)		10/17		hmmpanther:PTHR23273,hmmpanther:PTHR23273:SF6,Gene3D:2.40.50.140,TIGRFAM_domain:TIGR00617,Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	1879356	1879356	G	T	1	0	0	0	0	1	0	0	0	13788	1290	45	2		2	RPA1	17	1879356	Missense_Mutation	SNP	G	C3N-00547_TP		1879356	81378085	574	16035											
WSCD1	0	.	GRCh38	chr17	6118021	6118021	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaaggaccactggcggagccGacgcaccatctgtgtcaaaa	13	5	11	12	3	2	0	1	0	1	0	2	3	2	2	3	3	1	1	3	3	3	0	rs367620024		C3N-00547_TP	C3N-00547_NB	G	G																c.1208G>C	p.Arg403Pro	p.R403P	ENST00000574946	8/9	248	184	64	315	315	0	strelka-varscan-mutect	WSCD1,missense_variant,p.Arg403Pro,ENST00000574946,;WSCD1,missense_variant,p.Arg403Pro,ENST00000317744,NM_015253.1;WSCD1,missense_variant,p.Arg403Pro,ENST00000539421,;WSCD1,missense_variant,p.Arg403Pro,ENST00000574232,;WSCD1,missense_variant,p.Arg287Pro,ENST00000573634,;WSCD1,3_prime_UTR_variant,,ENST00000571494,;	C	ENST00000574946	Transcript	missense_variant	1598/5884	1208/1728	403/575	R/P	cGa/cCa	rs367620024,COSM2794115	1		1	WSCD1	HGNC	HGNC:29060	protein_coding	YES	CCDS32538.1	ENSP00000460825	Q658N2		UPI0000197208		tolerated(0.05)		8/9		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF90,Gene3D:3.40.50.300,Superfamily_domains:SSF52540											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs367620024	.												C	3	2	50	6118021	6118021	G	C	1	0	0	0	0	1	0	0	0	17963	1058	37	4		4	WSCD1	17	6118021	Missense_Mutation	SNP	G	C3N-00547_TP	4238665	6118021	77139420	575	16036											
TP53	0	.	GRCh38	chr17	7675220	7675220	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagttggcaaaacatcttgTtgagggcaggggagtactgt	10	10	14	7	0	1	1	0	1	1	0	1	2	1	2	1	4	2	5	1	4	3	4			C3N-00547_TP	C3N-00547_NB	T	T																c.392A>T	p.Asn131Ile	p.N131I	ENST00000269305	5/11	167	127	40	290	290	0	strelka-varscan-mutect	TP53,missense_variant,p.Asn131Ile,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Asn131Ile,ENST00000420246,;TP53,missense_variant,p.Asn92Ile,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Asn92Ile,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Asn131Ile,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Asn92Ile,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Asn131Ile,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Asn92Ile,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Asn131Ile,ENST00000445888,;TP53,missense_variant,p.Asn92Ile,ENST00000619485,;TP53,missense_variant,p.Asn131Ile,ENST00000359597,;TP53,missense_variant,p.Asn120Ile,ENST00000615910,;TP53,missense_variant,p.Asn131Ile,ENST00000413465,;TP53,missense_variant,p.Asn131Ile,ENST00000508793,;TP53,missense_variant,p.Asn38Ile,ENST00000514944,;TP53,splice_region_variant,,ENST00000604348,;TP53,5_prime_UTR_variant,,ENST00000510385,NM_001126116.1;TP53,5_prime_UTR_variant,,ENST00000618944,NM_001276698.1;TP53,5_prime_UTR_variant,,ENST00000504290,NM_001126117.1;TP53,5_prime_UTR_variant,,ENST00000610623,NM_001276699.1;TP53,5_prime_UTR_variant,,ENST00000504937,NM_001126115.1;TP53,5_prime_UTR_variant,,ENST00000619186,NM_001276697.1;TP53,5_prime_UTR_variant,,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Asn92Ile,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	582/2579	392/1182	131/393	N/I	aAc/aTc	CM087281,TP53_g.12380A>C,TP53_g.12380A>G,TP53_g.12380A>T,COSM1610869,COSM1610870,COSM1610871,COSM213373,COSM213374,COSM213375,COSM3717675,COSM3717676,COSM3717677,COSM3717678,COSM437612,COSM437613,COSM437614,COSM437615,COSM44474,COSM44794,COSM45608,COSM5221008,COSM5221009	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		5/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386											0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs1131691037	.												A	3	1	50	7675220	7675220	T	A	1	0	0	0	0	1	0	0	0	16859	1725	60	4		4	TP53	17	7675220	Missense_Mutation	SNP	T	C3N-00547_TP	1557199	7675220	75582221	576	16037											
MYH4	0	.	GRCh38	chr17	10448663	10448663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagtttcaagatgatccaGggattcctcgtaggcattct	10	13	10	8	1	2	3	1	1	1	2	5	4	4	4	2	2	0	3	2	2	3	5	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.4486C>A	p.Leu1496Met	p.L1496M	ENST00000255381	32/40	121	97	24	144	144	0	strelka-varscan-mutect	MYH4,missense_variant,p.Leu1496Met,ENST00000255381,NM_017533.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000255381	Transcript	missense_variant	4597/6016	4486/5820	1496/1939	L/M	Ctg/Atg		1		-1	MYH4	HGNC	HGNC:7574	protein_coding	YES	CCDS11154.1	ENSP00000255381	Q9Y623		UPI000013CEAB	NM_017533.2	deleterious(0.01)		32/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,Superfamily_domains:SSF90257																	MODERATE	1	SNV	1			1										PASS		rs1002727252	.												T	3	4	50	10448663	10448663	G	T	1	0	0	0	0	1	0	0	0	10037	991	35	2		2	MYH4	17	10448663	Missense_Mutation	SNP	G	C3N-00547_TP	2773443	10448663	72808778	577	16038											
MYH2	0	.	GRCh38	chr17	10547795	10547795	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaaaggattctttgggCtccgccacaaagacagatgt	12	10	10	9	1	1	3	0	1	1	2	2	4	2	4	2	2	0	1	2	2	2	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.126G>A	p.=	p.E42E	ENST00000245503	3/40	340	276	64	549	549	0	strelka-varscan-mutect	MYH2,synonymous_variant,p.=,ENST00000245503,NM_017534.5;MYH2,synonymous_variant,p.=,ENST00000397183,NM_001100112.1;MYH2,synonymous_variant,p.=,ENST00000532183,;MYH2,synonymous_variant,p.=,ENST00000622564,;MYH2,synonymous_variant,p.=,ENST00000420805,;MYH2,upstream_gene_variant,,ENST00000578017,;MYHAS,intron_variant,,ENST00000587182,;	T	ENST00000245503	Transcript	synonymous_variant	511/6339	126/5826	42/1941	E	gaG/gaA		1		-1	MYH2	HGNC	HGNC:7572	protein_coding	YES	CCDS11156.1	ENSP00000245503	Q9UKX2		UPI000012FB6C	NM_017534.5			3/40		Pfam_domain:PF02736,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF385																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	10547795	10547795	C	T	1	0	0	0	0	0	0	0	1	10035	796	28	3		3	MYH2	17	10547795	Silent	SNP	C	C3N-00547_TP	99132	10547795	72709646	578	16039											
CCDC144A	0	.	GRCh38	chr17	16734870	16734870	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgataaccttcaaaaaattAtaaaactaaatgaggaaaca	23	9	4	5	0	1	2	1	2	0	0	1	3	1	3	1	1	3	0	1	1	10	5	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.2599A>T	p.Ile867Leu	p.I867L	ENST00000360524	12/18	49	30	19	62	62	0	strelka-varscan-mutect	CCDC144A,missense_variant,p.Ile867Leu,ENST00000399273,;CCDC144A,missense_variant,p.Ile867Leu,ENST00000360524,NM_014695.2;CCDC144A,downstream_gene_variant,,ENST00000456009,;RP11-219A15.1,missense_variant,p.Ile867Leu,ENST00000448331,;CCDC144A,3_prime_UTR_variant,,ENST00000360495,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000470068,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000328495,;	T	ENST00000360524	Transcript	missense_variant	2675/5830	2599/4284	867/1427	I/L	Ata/Tta		1		1	CCDC144A	HGNC	HGNC:29072	protein_coding	YES	CCDS45621.1	ENSP00000353717	A2RUR9		UPI0000F095D0	NM_014695.2	tolerated(0.71)		12/18		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22245:SF0,hmmpanther:PTHR22245,Pfam_domain:PF14915																	MODERATE	1	SNV	1			1										PASS		rs1164122053	.												T	3	4	50	16734870	16734870	A	T	1	0	0	0	0	1	0	0	0	2465	449	16	4		4	CCDC144A	17	16734870	Missense_Mutation	SNP	A	C3N-00547_TP	6187075	16734870	66522571	579	16040											
LGALS9B	0	.	GRCh38	chr17	20451826	20451826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggacagtgcctgacaGgatgatggacttggatgggt	9	8	18	6	0	0	2	0	2	0	0	0	6	0	6	1	6	1	1	1	6	0	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.727C>T	p.=	p.L243L	ENST00000324290	9/11	186	125	61	287	287	0	strelka-varscan-mutect	LGALS9B,synonymous_variant,p.=,ENST00000423676,;LGALS9B,synonymous_variant,p.=,ENST00000324290,NM_001042685.1;NOS2P3,downstream_gene_variant,,ENST00000458685,;LGALS9B,3_prime_UTR_variant,,ENST00000578481,;LGALS9B,non_coding_transcript_exon_variant,,ENST00000581490,;LGALS9B,non_coding_transcript_exon_variant,,ENST00000578724,;LGALS9B,downstream_gene_variant,,ENST00000584703,;	A	ENST00000324290	Transcript	synonymous_variant	792/1243	727/1068	243/355	L	Ctg/Ttg		1		-1	LGALS9B	HGNC	HGNC:24842	protein_coding	YES	CCDS42283.1	ENSP00000315564	Q3B8N2		UPI00001AF401	NM_001042685.1			9/11		Gene3D:2.60.120.200,Pfam_domain:PF00337,PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF91,SMART_domains:SM00276,SMART_domains:SM00908,Superfamily_domains:SSF49899																	LOW		SNV	5			1										PASS		rs1380283562	.												A	2	1	50	20451826	20451826	G	A	1	0	0	0	0	0	0	0	1	8658	991	35	3		3	LGALS9B	17	20451826	Silent	SNP	G	C3N-00547_TP	3716956	20451826	62805615	580	16041											
MYO1D	0	.	GRCh38	chr17	32494836	32494836	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctggttgagccgcgtctCcacggagacggtgcacttct	5	9	15	12	4	2	2	0	1	2	1	3	3	2	2	2	4	2	3	2	4	0	2			C3N-00547_TP	C3N-00547_NB	C	C																c.2944G>T	p.Glu982Ter	p.E982*	ENST00000318217	22/22	124	97	27	153	153	0	strelka-varscan-mutect	MYO1D,stop_gained,p.Glu982Ter,ENST00000318217,NM_015194.2;MYO1D,stop_gained,p.Glu894Ter,ENST00000394649,;CDK5R1,downstream_gene_variant,,ENST00000313401,NM_003885.2;RP11-466A19.1,upstream_gene_variant,,ENST00000581360,;MYO1D,non_coding_transcript_exon_variant,,ENST00000577576,;MYO1D,non_coding_transcript_exon_variant,,ENST00000577352,;	A	ENST00000318217	Transcript	stop_gained	3249/5563	2944/3021	982/1006	E/*	Gag/Tag	COSM5519473	1		-1	MYO1D	HGNC	HGNC:7598	protein_coding	YES	CCDS32615.1	ENSP00000324527	O94832		UPI0000186004	NM_015194.2			22/22		PROSITE_profiles:PS51757,Pfam_domain:PF06017											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	50	32494836	32494836	C	A	1	0	0	0	0	0	1	0	0	10072	864	30	2		2	MYO1D	17	32494836	Nonsense_Mutation	SNP	C	C3N-00547_TP	12043010	32494836	50762605	581	16042											
SLFN11	0	.	GRCh38	chr17	35363523	35363523	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttccttgttgcttggtCtcaaagaaagcctgcagatc	9	12	8	12	0	1	2	1	0	1	2	4	2	2	2	3	1	3	3	3	1	2	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.285G>T	p.Glu95Asp	p.E95D	ENST00000394566	4/7	137	112	25	230	229	1	strelka-varscan-mutect	SLFN11,missense_variant,p.Glu95Asp,ENST00000394566,NM_001104588.1,NM_001104590.1,NM_001104587.1;SLFN11,missense_variant,p.Glu95Asp,ENST00000308377,NM_152270.3,NM_001104589.1;SLFN11,missense_variant,p.Glu95Asp,ENST00000441608,;SLFN11,missense_variant,p.Glu95Asp,ENST00000591682,;SLFN11,missense_variant,p.Glu95Asp,ENST00000589811,;SLFN11,downstream_gene_variant,,ENST00000427966,;SLFN11,downstream_gene_variant,,ENST00000430814,;SLFN11,downstream_gene_variant,,ENST00000592122,;SLFN11,downstream_gene_variant,,ENST00000588579,;SLFN11,downstream_gene_variant,,ENST00000498396,;SLFN11,upstream_gene_variant,,ENST00000586099,;SLFN11,downstream_gene_variant,,ENST00000589562,;	A	ENST00000394566	Transcript	missense_variant	558/5030	285/2706	95/901	E/D	gaG/gaT		1		-1	SLFN11	HGNC	HGNC:26633	protein_coding	YES	CCDS11294.1	ENSP00000378067	Q7Z7L1		UPI0000140B0E	NM_001104588.1,NM_001104590.1,NM_001104587.1	tolerated(0.76)		4/7		hmmpanther:PTHR12155:SF21,hmmpanther:PTHR12155																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	50	35363523	35363523	C	A	1	0	0	0	0	1	0	0	0	15022	912	32	2		2	SLFN11	17	35363523	Missense_Mutation	SNP	C	C3N-00547_TP	2868687	35363523	47893918	582	16043											
SYNRG	0	.	GRCh38	chr17	37553447	37553447	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatctttcaggtcttcaacaCctagtccagacccttccaga	10	12	5	14	0	4	2	2	0	2	2	6	2	6	2	4	1	1	0	4	1	3	5	rs773084989		C3N-00547_TP	C3N-00547_NB	C	C																c.2276G>C	p.Gly759Ala	p.G759A	ENST00000612223	14/22	123	104	19	301	301	0	strelka-varscan-mutect	SYNRG,missense_variant,p.Gly759Ala,ENST00000612223,NM_007247.5;SYNRG,missense_variant,p.Gly681Ala,ENST00000621136,NM_080550.4;SYNRG,missense_variant,p.Gly681Ala,ENST00000616179,NM_001163546.2;SYNRG,missense_variant,p.Gly681Ala,ENST00000622045,NM_198882.2;SYNRG,missense_variant,p.Gly680Ala,ENST00000619541,NM_001163544.2,NM_001163545.2;SYNRG,missense_variant,p.Gly598Ala,ENST00000614941,NM_001163547.2;SYNRG,non_coding_transcript_exon_variant,,ENST00000611910,;SYNRG,downstream_gene_variant,,ENST00000621605,;SYNRG,non_coding_transcript_exon_variant,,ENST00000618829,;	G	ENST00000612223	Transcript	missense_variant	2417/8229	2276/3945	759/1314	G/A	gGt/gCt	rs773084989	1		-1	SYNRG	HGNC	HGNC:557	protein_coding	YES	CCDS11321.1	ENSP00000483453	Q9UMZ2		UPI000013C4EA	NM_007247.5	tolerated_low_confidence(0.36)		14/22		hmmpanther:PTHR15463,hmmpanther:PTHR15463:SF2																	MODERATE	1	SNV	1			1										PASS		rs773084989	.												G	3	3	50	37553447	37553447	C	G	1	0	0	0	0	1	0	0	0	15854	507	18	4		4	SYNRG	17	37553447	Missense_Mutation	SNP	C	C3N-00547_TP	2189924	37553447	45703994	583	16044											
CDC6	0	.	GRCh38	chr17	40300906	40300906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtcatctcagaagttgatgGtaacaggatgaccttgagcc	12	10	11	8	0	2	4	2	3	1	1	3	5	2	5	2	2	2	2	2	2	2	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1328G>T	p.Gly443Val	p.G443V	ENST00000209728	10/12	336	244	92	384	384	0	strelka-varscan-mutect	CDC6,missense_variant,p.Gly443Val,ENST00000209728,NM_001254.3;	T	ENST00000209728	Transcript	missense_variant	1799/4810	1328/1683	443/560	G/V	gGt/gTt		1		1	CDC6	HGNC	HGNC:1744	protein_coding	YES	CCDS11365.1	ENSP00000209728	Q99741	A0A024R1S2	UPI0000073C6C	NM_001254.3	deleterious(0)		10/12		hmmpanther:PTHR10763:SF26,hmmpanther:PTHR10763,PIRSF_domain:PIRSF001767																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	40300906	40300906	G	T	1	0	0	0	0	1	0	0	0	2786	1261	44	2		2	CDC6	17	40300906	Missense_Mutation	SNP	G	C3N-00547_TP	2747459	40300906	42956535	584	16045											
KRT15	0	.	GRCh38	chr17	41518499	41518499	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcggtcattgaggttcTgcatggtaattttctcattg	7	15	11	8	1	3	1	2	1	2	0	4	1	3	1	1	4	1	3	1	4	1	6	rs777510451		C3N-00547_TP	C3N-00547_NB	T	T																c.329A>T	p.Gln110Leu	p.Q110L	ENST00000254043	1/8	257	204	53	266	266	0	strelka-varscan-mutect	KRT15,missense_variant,p.Gln110Leu,ENST00000254043,NM_002275.3;KRT15,missense_variant,p.Gln110Leu,ENST00000393976,;KRT15,5_prime_UTR_variant,,ENST00000393974,;KRT15,intron_variant,,ENST00000458290,;KRT15,upstream_gene_variant,,ENST00000613845,;KRT15,intron_variant,,ENST00000474031,;KRT15,intron_variant,,ENST00000497016,;KRT15,intron_variant,,ENST00000463447,;KRT15,intron_variant,,ENST00000470004,;KRT15,upstream_gene_variant,,ENST00000586794,;	A	ENST00000254043	Transcript	missense_variant	3915/5237	329/1371	110/456	Q/L	cAg/cTg	rs777510451	1		-1	KRT15	HGNC	HGNC:6421	protein_coding	YES	CCDS11398.1	ENSP00000254043	P19012		UPI000013CE0E	NM_002275.3	deleterious(0)		1/8		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF164,SMART_domains:SM01391,Superfamily_domains:SSF64593																	MODERATE	1	SNV	1			1										PASS		rs777510451	.												A	3	1	50	41518499	41518499	T	A	1	0	0	0	0	1	0	0	0	8334	1580	55	4		4	KRT15	17	41518499	Missense_Mutation	SNP	T	C3N-00547_TP	1217593	41518499	41738942	585	16046											
KLHL11	0	.	GRCh38	chr17	41854282	41854282	+	Frame_Shift_Del	DEL	T	T	-																															ttgccactgtcgagtctctgTatcatagcaagtaattacag																								novel		C3N-00547_TP	C3N-00547_NB	T	T																c.1585delA	p.Thr529GlnfsTer43	p.T529Qfs*43	ENST00000319121	2/2	118	99	19	167	167	0	sindel-varindel-pindel	KLHL11,frameshift_variant,p.Thr529GlnfsTer43,ENST00000319121,NM_018143.2;RP11-156E6.1,upstream_gene_variant,,ENST00000560400,;	-	ENST00000319121	Transcript	frameshift_variant	1646/2383	1585/2127	529/708	T/X	Aca/ca		1		-1	KLHL11	HGNC	HGNC:19008	protein_coding	YES	CCDS11411.1	ENSP00000314608	Q9NVR0	A0A024R1T8	UPI00000719F8	NM_018143.2			2/2		Gene3D:1zgkA00,Superfamily_domains:0052715																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	50	41854282	41854282	T	-	1	0	1	0	1	0	0	0	0	8231	1638	57	0		0	KLHL11	17	41854282	Frame_Shift_Del	DEL	T	C3N-00547_TP	335783	41854282	41403159	586	16047											
SLC4A1	0	.	GRCh38	chr17	44259318	44259318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcctcacgaagcccagcaCcggctgctccaggaagtcgg	9	4	12	16	3	1	0	1	0	0	0	3	2	2	1	4	3	4	3	4	3	2	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.721G>T	p.Val241Leu	p.V241L	ENST00000262418	9/20	274	213	61	261	260	1	strelka-varscan-mutect	SLC4A1,missense_variant,p.Val241Leu,ENST00000262418,NM_000342.3;SLC4A1,missense_variant,p.Val241Leu,ENST00000399246,;SLC4A1,downstream_gene_variant,,ENST00000471005,;SLC4A1,non_coding_transcript_exon_variant,,ENST00000497360,;SLC4A1,downstream_gene_variant,,ENST00000498270,;	A	ENST00000262418	Transcript	missense_variant	877/4965	721/2736	241/911	V/L	Gtg/Ttg		1		-1	SLC4A1	HGNC	HGNC:11027	protein_coding	YES	CCDS11481.1	ENSP00000262418	P02730		UPI00000375B8	NM_000342.3	deleterious(0.04)		9/20		Gene3D:1hynR00,Pfam_domain:PF07565,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	44259318	44259318	C	A	1	0	0	0	0	1	0	0	0	14927	507	18	2		2	SLC4A1	17	44259318	Missense_Mutation	SNP	C	C3N-00547_TP	2405036	44259318	38998123	587	16048											
ITGA2B	0	.	GRCh38	chr17	44383657	44383657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcggccagttttcggtctGcccggctctccatatacagt	5	13	9	14	3	2	0	0	0	2	0	5	0	2	0	3	3	2	2	3	3	2	5	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1046C>A	p.Ala349Glu	p.A349E	ENST00000262407	12/30	180	133	47	179	179	0	strelka-varscan-mutect	ITGA2B,missense_variant,p.Ala349Glu,ENST00000262407,NM_000419.3;ITGA2B,non_coding_transcript_exon_variant,,ENST00000592226,;ITGA2B,upstream_gene_variant,,ENST00000592462,;ITGA2B,downstream_gene_variant,,ENST00000589645,;ITGA2B,downstream_gene_variant,,ENST00000591990,;ITGA2B,downstream_gene_variant,,ENST00000592944,;ITGA2B,downstream_gene_variant,,ENST00000592253,;ITGA2B,downstream_gene_variant,,ENST00000592075,;	T	ENST00000262407	Transcript	missense_variant	1078/3333	1046/3120	349/1039	A/E	gCa/gAa		1		-1	ITGA2B	HGNC	HGNC:6138	protein_coding	YES	CCDS32665.1	ENSP00000262407	P08514		UPI00001868B8	NM_000419.3	deleterious(0.01)		12/30		PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF73,hmmpanther:PTHR23220,Gene3D:3nigC00,Pfam_domain:PF01839,SMART_domains:SM00191,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	44383657	44383657	G	T	1	0	0	0	0	1	0	0	0	7783	1319	46	2		2	ITGA2B	17	44383657	Missense_Mutation	SNP	G	C3N-00547_TP	124339	44383657	38873784	588	16049											
PLEKHM1	0	.	GRCh38	chr17	45475214	45475214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattctcttggagtaagcagCtatcagagtttaggctgcag	10	12	11	8	0	2	1	1	0	1	1	3	2	2	2	0	2	3	6	0	2	3	6	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.809G>T	p.Ser270Ile	p.S270I	ENST00000430334	4/12	343	254	89	393	392	1	strelka-varscan-mutect	PLEKHM1,missense_variant,p.Ser270Ile,ENST00000430334,NM_014798.2;PLEKHM1,missense_variant,p.Ser140Ile,ENST00000584420,;PLEKHM1,downstream_gene_variant,,ENST00000589780,;PLEKHM1,downstream_gene_variant,,ENST00000636800,;PLEKHM1,intron_variant,,ENST00000582119,;PLEKHM1,downstream_gene_variant,,ENST00000586562,;PLEKHM1,missense_variant,p.Ser270Ile,ENST00000581448,;PLEKHM1,3_prime_UTR_variant,,ENST00000579197,;PLEKHM1,3_prime_UTR_variant,,ENST00000446609,;PLEKHM1,downstream_gene_variant,,ENST00000581932,;PLEKHM1,downstream_gene_variant,,ENST00000586084,;	A	ENST00000430334	Transcript	missense_variant	943/5263	809/3171	270/1056	S/I	aGc/aTc		1		-1	PLEKHM1	HGNC	HGNC:29017	protein_coding	YES	CCDS32671.1	ENSP00000389913	Q9Y4G2		UPI00001C1FC4	NM_014798.2	deleterious(0)		4/12		Low_complexity_(Seg):seg,hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	45475214	45475214	C	A	1	0	0	0	0	1	0	0	0	12173	797	28	2		2	PLEKHM1	17	45475214	Missense_Mutation	SNP	C	C3N-00547_TP	1091557	45475214	37782227	589	16050											
LPO	0	.	GRCh38	chr17	58266254	58266254	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcgcaacaagcttttccagCcaactcacaggatccatggc	11	8	8	14	1	1	0	1	0	0	0	3	1	3	1	3	2	5	2	3	2	3	2	rs763363576		C3N-00547_TP	C3N-00547_NB	C	C																c.1621C>G	p.Pro541Ala	p.P541A	ENST00000262290	11/13	192	146	46	198	198	0	strelka-varscan-mutect	LPO,missense_variant,p.Pro541Ala,ENST00000262290,NM_006151.2;LPO,missense_variant,p.Pro458Ala,ENST00000421678,NM_001160102.1;LPO,missense_variant,p.Pro458Ala,ENST00000582328,;LPO,missense_variant,p.Pro482Ala,ENST00000543544,;MPO,downstream_gene_variant,,ENST00000225275,NM_000250.1;MPO,downstream_gene_variant,,ENST00000577220,;LPO,3_prime_UTR_variant,,ENST00000580890,;LPO,3_prime_UTR_variant,,ENST00000389576,;	G	ENST00000262290	Transcript	missense_variant	1937/2979	1621/2139	541/712	P/A	Cca/Gca	rs763363576	1		1	LPO	HGNC	HGNC:6678	protein_coding	YES	CCDS32689.1	ENSP00000262290	P22079		UPI0000131631	NM_006151.2	tolerated(0.22)		11/13		PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF67,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113																	MODERATE	1	SNV	1			1										PASS		rs763363576	.												G	3	3	50	58266254	58266254	C	G	1	0	0	0	0	1	0	0	0	8821	739	26	4		4	LPO	17	58266254	Missense_Mutation	SNP	C	C3N-00547_TP	12791040	58266254	24991187	590	16051											
SMARCD2	0	.	GRCh38	chr17	63835462	63835462	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcccaggaagccaccttgtCccctgctggggttcccccag	5	9	10	17	0	0	0	0	0	0	0	3	1	3	1	7	3	2	2	7	3	1	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.673G>C	p.Asp225His	p.D225H	ENST00000448276	5/13	144	94	50	214	214	0	strelka-varscan-mutect	SMARCD2,missense_variant,p.Asp225His,ENST00000448276,NM_001098426.1;SMARCD2,missense_variant,p.Asp188His,ENST00000613943,;SMARCD2,missense_variant,p.Asp177His,ENST00000323347,;SMARCD2,missense_variant,p.Asp150His,ENST00000225742,;PSMC5,downstream_gene_variant,,ENST00000310144,NM_002805.5;PSMC5,downstream_gene_variant,,ENST00000580864,;PSMC5,downstream_gene_variant,,ENST00000375812,NM_001199163.1;PSMC5,downstream_gene_variant,,ENST00000581882,;SMARCD2,upstream_gene_variant,,ENST00000450364,;PSMC5,downstream_gene_variant,,ENST00000585123,;PSMC5,downstream_gene_variant,,ENST00000582130,;PSMC5,downstream_gene_variant,,ENST00000581842,;PSMC5,downstream_gene_variant,,ENST00000584320,;PSMC5,downstream_gene_variant,,ENST00000579708,;SMARCD2,3_prime_UTR_variant,,ENST00000584400,;SMARCD2,non_coding_transcript_exon_variant,,ENST00000578234,;PSMC5,downstream_gene_variant,,ENST00000579147,;PSMC5,downstream_gene_variant,,ENST00000581764,;PSMC5,downstream_gene_variant,,ENST00000578570,;PSMC5,downstream_gene_variant,,ENST00000585242,;SMARCD2,upstream_gene_variant,,ENST00000584483,;PSMC5,downstream_gene_variant,,ENST00000584536,;PSMC5,downstream_gene_variant,,ENST00000579031,;PSMC5,downstream_gene_variant,,ENST00000584880,;PSMC5,downstream_gene_variant,,ENST00000584657,;PSMC5,downstream_gene_variant,,ENST00000580063,;SMARCD2,upstream_gene_variant,,ENST00000581832,;SMARCD2,downstream_gene_variant,,ENST00000580054,;SMARCD2,downstream_gene_variant,,ENST00000577686,;	G	ENST00000448276	Transcript	missense_variant	939/2716	673/1596	225/531	D/H	Gac/Cac		1		-1	SMARCD2	HGNC	HGNC:11107	protein_coding	YES	CCDS45756.1	ENSP00000392617	Q92925		UPI0000D695F8	NM_001098426.1	deleterious(0.02)		5/13		hmmpanther:PTHR13844,hmmpanther:PTHR13844:SF2																	MODERATE	1	SNV	1			1										PASS		rs980191323	.												G	3	3	50	63835462	63835462	C	G	1	0	0	0	0	1	0	0	0	15071	855	30	4		4	SMARCD2	17	63835462	Missense_Mutation	SNP	C	C3N-00547_TP	5569208	63835462	19421979	591	16052											
APOH	0	.	GRCh38	chr17	66228134	66228134	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atacgtaatctcttctcctgGctcatagaatgtttttaacg	10	16	6	9	2	3	1	1	0	2	1	5	1	3	1	1	1	2	3	1	1	5	7	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.127C>G	p.Pro43Ala	p.P43A	ENST00000205948	2/8	133	102	31	162	162	0	strelka-varscan-mutect	APOH,missense_variant,p.Pro43Ala,ENST00000205948,NM_000042.2;APOH,missense_variant,p.Pro43Ala,ENST00000577982,;APOH,5_prime_UTR_variant,,ENST00000581797,;	C	ENST00000205948	Transcript	missense_variant	165/1176	127/1038	43/345	P/A	Cca/Gca		1		-1	APOH	HGNC	HGNC:616	protein_coding	YES	CCDS11663.1	ENSP00000205948	P02749		UPI0000125CAA	NM_000042.2	tolerated(0.36)		2/8		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF323,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	66228134	66228134	G	C	1	0	0	0	0	1	0	0	0	926	1203	42	4		4	APOH	17	66228134	Missense_Mutation	SNP	G	C3N-00547_TP	2392672	66228134	17029307	592	16053											
DNAI2	0	.	GRCh38	chr17	74309318	74309318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgaccgttttctttaccaCcaggatggacggaaccctgg	8	9	11	13	3	1	0	0	0	1	0	1	4	1	3	5	4	2	1	5	4	2	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1277C>A	p.Thr426Asn	p.T426N	ENST00000446837	9/13	467	337	130	513	512	1	strelka-varscan-mutect	DNAI2,missense_variant,p.Thr483Asn,ENST00000579490,;DNAI2,missense_variant,p.Thr426Asn,ENST00000446837,;DNAI2,missense_variant,p.Thr426Asn,ENST00000582036,NM_001172810.1;DNAI2,missense_variant,p.Thr426Asn,ENST00000311014,NM_023036.4;RP11-647F2.2,non_coding_transcript_exon_variant,,ENST00000585167,;DNAI2,3_prime_UTR_variant,,ENST00000579055,;DNAI2,upstream_gene_variant,,ENST00000579312,;	A	ENST00000446837	Transcript	missense_variant	1583/2474	1277/1818	426/605	T/N	aCc/aAc		1		1	DNAI2	HGNC	HGNC:18744	protein_coding	YES	CCDS11697.1	ENSP00000400252	Q9GZS0		UPI000013EC1D		deleterious(0.01)		9/13		PROSITE_profiles:PS50294,hmmpanther:PTHR12442:SF7,hmmpanther:PTHR12442,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		rs1191507648	.												A	3	1	50	74309318	74309318	C	A	1	0	0	0	0	1	0	0	0	4425	507	18	2		2	DNAI2	17	74309318	Missense_Mutation	SNP	C	C3N-00547_TP	8081184	74309318	8948123	593	16054											
TSEN54	0	.	GRCh38	chr17	75522042	75522042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgcgcgccccagccccaGagctgctcccggccaacgtg	5	6	11	19	4	1	1	0	0	1	1	2	1	2	1	6	1	5	2	6	1	1	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.961G>A	p.Glu321Lys	p.E321K	ENST00000333213	8/11	231	159	72	218	218	0	strelka-varscan-mutect	TSEN54,missense_variant,p.Glu321Lys,ENST00000333213,NM_207346.2;TSEN54,missense_variant,p.Glu18Lys,ENST00000545228,;LLGL2,upstream_gene_variant,,ENST00000392550,NM_001031803.1;LLGL2,upstream_gene_variant,,ENST00000167462,NM_004524.2;LLGL2,upstream_gene_variant,,ENST00000578363,;LLGL2,upstream_gene_variant,,ENST00000375227,NM_001015002.1;TSEN54,downstream_gene_variant,,ENST00000434205,;LLGL2,upstream_gene_variant,,ENST00000580578,;LLGL2,upstream_gene_variant,,ENST00000579392,;TSEN54,downstream_gene_variant,,ENST00000580013,;TSEN54,missense_variant,p.Arg165Lys,ENST00000583173,;TSEN54,3_prime_UTR_variant,,ENST00000578415,;TSEN54,upstream_gene_variant,,ENST00000579449,;TSEN54,downstream_gene_variant,,ENST00000583818,;TSEN54,downstream_gene_variant,,ENST00000583454,;TSEN54,upstream_gene_variant,,ENST00000577197,;TSEN54,downstream_gene_variant,,ENST00000583634,;	A	ENST00000333213	Transcript	missense_variant	997/1944	961/1581	321/526	E/K	Gag/Aag		1		1	TSEN54	HGNC	HGNC:27561	protein_coding	YES	CCDS11724.1	ENSP00000327487	Q7Z6J9		UPI00001C1FD2	NM_207346.2	tolerated(0.43)		8/11		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	75522042	75522042	G	A	1	0	0	0	0	1	0	0	0	17120	943	33	3		3	TSEN54	17	75522042	Missense_Mutation	SNP	G	C3N-00547_TP	1212724	75522042	7735399	594	16055											
LAMA1	0	.	GRCh38	chr18	7080392	7080392	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatctccggccccttctCgccacaggtggcattggtgc	6	9	11	15	2	2	0	0	0	2	0	4	1	2	0	4	4	2	1	4	4	1	2	rs571937115		C3N-00547_TP	C3N-00547_NB	C	C																c.127G>T	p.Glu43Ter	p.E43*	ENST00000389658	2/63	384	275	109	366	366	0	strelka-varscan-mutect	LAMA1,stop_gained,p.Glu43Ter,ENST00000389658,NM_005559.3;RP11-76K13.3,downstream_gene_variant,,ENST00000581502,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	A	ENST00000389658	Transcript	stop_gained	221/9657	127/9228	43/3075	E/*	Gag/Tag	rs571937115	1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3			2/63		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299,SMART_domains:SM00136																	HIGH	1	SNV	2			1										PASS		rs571937115	.												A	4	1	50	7080392	7080392	C	A	1	0	0	0	0	0	1	0	0	8509	893	31	1		1	LAMA1	18	7080392	Nonsense_Mutation	SNP	C	C3N-00547_TP		7080392	73292893	595	16056											
ZNF519	0	.	GRCh38	chr18	14105464	14105464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagtaaggtatgaccccCtgttaaaggctttgccacat	10	12	10	9	0	0	2	0	2	0	0	0	2	0	2	3	2	1	5	3	2	4	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1076G>T	p.Arg359Met	p.R359M	ENST00000590202	3/3	100	63	37	107	107	0	strelka-varscan-mutect	ZNF519,missense_variant,p.Arg359Met,ENST00000590202,NM_145287.3;ZNF519,intron_variant,,ENST00000589498,;RP11-411B10.3,downstream_gene_variant,,ENST00000592926,;ZNF519,intron_variant,,ENST00000589203,;ZNF519,intron_variant,,ENST00000591393,;ZNF519,intron_variant,,ENST00000592345,;ZNF519,intron_variant,,ENST00000592411,;ZNF519,intron_variant,,ENST00000592049,;ZNF519,downstream_gene_variant,,ENST00000588435,;ZNF519,non_coding_transcript_exon_variant,,ENST00000624133,;ZNF519,intron_variant,,ENST00000587419,;	A	ENST00000590202	Transcript	missense_variant	1229/2830	1076/1623	359/540	R/M	aGg/aTg		1		-1	ZNF519	HGNC	HGNC:30574	protein_coding	YES	CCDS32797.1	ENSP00000464872	Q8TB69		UPI0000201A41	NM_145287.3	tolerated(0.19)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF97,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	14105464	14105464	C	A	1	0	0	0	0	1	0	0	0	18536	681	24	2		2	ZNF519	18	14105464	Missense_Mutation	SNP	C	C3N-00547_TP	7025072	14105464	66267821	596	16057											
ANKRD30B	0	.	GRCh38	chr18	14763798	14763798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgcacgcttggtggaGggaacgtctgccaaaattca	10	8	14	9	2	2	0	1	0	1	0	2	3	2	2	1	4	3	3	1	4	3	2			C3N-00547_TP	C3N-00547_NB	G	G																c.933G>T	p.Glu311Asp	p.E311D	ENST00000358984	7/36	343	229	114	516	516	0	strelka-varscan-mutect	ANKRD30B,missense_variant,p.Glu311Asp,ENST00000358984,NM_001145029.1;RNU6-1210P,downstream_gene_variant,,ENST00000363775,;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,missense_variant,p.Glu311Asp,ENST00000580206,;	T	ENST00000358984	Transcript	missense_variant	1113/4359	933/4179	311/1392	E/D	gaG/gaT	COSM4562590,COSM4562591,COSM5295218,COSM5295219	1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1	deleterious(0.02)		7/36		hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs1040310529	.												T	3	4	50	14763798	14763798	G	T	1	0	0	0	0	1	0	0	0	762	991	35	2		2	ANKRD30B	18	14763798	Missense_Mutation	SNP	G	C3N-00547_TP	658334	14763798	65609487	597	16058											
ANKRD30B	0	.	GRCh38	chr18	14851956	14851956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaataatgaatgttgatGtgagtaatacaatatataac	19	12	8	2	0	0	3	0	3	0	0	0	4	0	4	0	1	2	2	0	1	10	7	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.3655G>T	p.Val1219Leu	p.V1219L	ENST00000358984	36/36	78	50	28	98	98	0	strelka-varscan-mutect	ANKRD30B,missense_variant,p.Val1219Leu,ENST00000358984,NM_001145029.1;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000320584,;	T	ENST00000358984	Transcript	missense_variant	3835/4359	3655/4179	1219/1392	V/L	Gtg/Ttg		1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1	tolerated(0.21)		36/36		Pfam_domain:PF14915,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	14851956	14851956	G	T	1	0	0	0	0	1	0	0	0	762	1377	48	2		2	ANKRD30B	18	14851956	Missense_Mutation	SNP	G	C3N-00547_TP	88158	14851956	65521329	598	16059											
MIB1	0	.	GRCh38	chr18	21849360	21849360	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaagaaatgcctcatctGtaaagaacaggttcaatcca	15	10	7	9	0	4	2	3	0	1	2	5	2	5	2	2	1	2	2	2	1	6	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2558G>C	p.Cys853Ser	p.C853S	ENST00000261537	17/21	111	92	19	115	115	0	strelka-mutect	MIB1,missense_variant,p.Cys853Ser,ENST00000261537,NM_020774.3;MIB1,non_coding_transcript_exon_variant,,ENST00000578646,;	C	ENST00000261537	Transcript	missense_variant	2822/9576	2558/3021	853/1006	C/S	tGt/tCt		1		1	MIB1	HGNC	HGNC:21086	protein_coding	YES	CCDS11871.1	ENSP00000261537	Q86YT6		UPI000000D833	NM_020774.3	deleterious(0.02)		17/21		Gene3D:3.30.40.10,Pfam_domain:PF13920,PROSITE_profiles:PS50089,hmmpanther:PTHR24202,SMART_domains:SM00184																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	21849360	21849360	G	C	1	0	0	0	0	1	0	0	0	9523	1377	48	4		4	MIB1	18	21849360	Missense_Mutation	SNP	G	C3N-00547_TP	6997404	21849360	58523925	599	16060											
ZNF521	0	.	GRCh38	chr18	25226728	25226728	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacttttgcttgtttactcGagggaccagtcatgtcaggg	8	14	11	8	1	2	0	2	0	0	0	3	2	2	1	1	2	3	2	1	2	2	6	rs553401367		C3N-00547_TP	C3N-00547_NB	G	G																c.1190C>A	p.Ser397Ter	p.S397*	ENST00000361524	4/8	278	189	89	283	282	1	strelka-varscan-mutect	ZNF521,stop_gained,p.Ser397Ter,ENST00000361524,NM_015461.2;ZNF521,stop_gained,p.Ser177Ter,ENST00000584787,NM_001308225.1;ZNF521,stop_gained,p.Ser397Ter,ENST00000538137,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,stop_gained,p.Ser397Ter,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	T	ENST00000361524	Transcript	stop_gained	1339/4871	1190/3936	397/1311	S/*	tCg/tAg	rs553401367	1		-1	ZNF521	HGNC	HGNC:24605	protein_coding	YES	CCDS32806.1	ENSP00000354794	Q96K83		UPI000006F982	NM_015461.2			4/8		hmmpanther:PTHR24402:SF222,hmmpanther:PTHR24402																	HIGH	1	SNV	1			1										PASS		rs553401367	.												T	4	4	50	25226728	25226728	G	T	1	0	0	0	0	0	1	0	0	18537	1059	37	1		1	ZNF521	18	25226728	Nonsense_Mutation	SNP	G	C3N-00547_TP	3377368	25226728	55146557	600	16061											
ASXL3	0	.	GRCh38	chr18	33746254	33746254	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacaaaagccttttaccCaattagctgctcagaaaatg	15	9	6	11	0	1	1	1	0	0	1	1	1	1	1	3	0	5	2	3	0	7	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.6406C>A	p.Gln2136Lys	p.Q2136K	ENST00000269197	12/12	164	121	43	228	228	0	strelka-varscan-mutect	ASXL3,missense_variant,p.Gln2136Lys,ENST00000269197,NM_030632.1;ASXL3,downstream_gene_variant,,ENST00000592288,;	A	ENST00000269197	Transcript	missense_variant	6461/11399	6406/6747	2136/2248	Q/K	Caa/Aaa		1		1	ASXL3	HGNC	HGNC:29357	protein_coding	YES	CCDS45847.1	ENSP00000269197	Q9C0F0		UPI000156D0F3	NM_030632.1	deleterious_low_confidence(0.02)		12/12		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs1360535131	.												A	3	1	50	33746254	33746254	C	A	1	0	0	0	0	1	0	0	0	1216	595	21	2		2	ASXL3	18	33746254	Missense_Mutation	SNP	C	C3N-00547_TP	8519526	33746254	46627031	601	16062											
SERPINB11	0	.	GRCh38	chr18	63711338	63711338	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttttttcttttctaggtgCttcattttagtcatactgta	6	24	5	6	0	4	0	2	0	2	0	4	0	4	0	0	1	2	2	0	1	4	12			C3N-00547_TP	C3N-00547_NB	C	C																c.172C>A	p.Leu58Ile	p.L58I	ENST00000623262	2/5	127	113	14	220	220	0	strelka-varscan-mutect	SERPINB11,missense_variant,p.Leu58Ile,ENST00000382749,NM_080475.3;SERPINB11,missense_variant,p.Leu58Ile,ENST00000544088,;SERPINB11,missense_variant,p.Leu58Ile,ENST00000489748,;SERPINB11,missense_variant,p.Leu58Ile,ENST00000623262,NM_001291278.1;SERPINB11,intron_variant,,ENST00000624518,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000467649,;SERPINB11,missense_variant,p.Leu58Ile,ENST00000536691,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000610304,;	A	ENST00000623262	Transcript	missense_variant	172/918	172/918	58/305	L/I	Ctt/Att	COSM5388363	1		1	SERPINB11	HGNC	HGNC:14221	protein_coding	YES	CCDS77196.1	ENSP00000485532		A0A096LPD5	UPI0003EAEE70	NM_001291278.1	deleterious(0.03)		2/5		hmmpanther:PTHR11461:SF199,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	50	63711338	63711338	C	A	1	0	0	0	0	1	0	0	0	14374	811	28	2		2	SERPINB11	18	63711338	Missense_Mutation	SNP	C	C3N-00547_TP	29965084	63711338	16661947	602	16063											
RTTN	0	.	GRCh38	chr18	70057801	70057801	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctctgagttcctggaCacatgtctgtatgagggtag	8	11	14	8	0	2	2	0	2	2	0	3	3	3	3	1	3	0	4	1	3	2	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.4972G>T	p.Val1658Phe	p.V1658F	ENST00000255674	37/49	172	141	31	273	273	0	strelka-varscan-mutect	RTTN,missense_variant,p.Val1658Phe,ENST00000255674,NM_173630.3;RTTN,3_prime_UTR_variant,,ENST00000581161,NM_001318520.1;RTTN,3_prime_UTR_variant,,ENST00000583043,;	A	ENST00000255674	Transcript	missense_variant	5259/7326	4972/6681	1658/2226	V/F	Gtc/Ttc		1		-1	RTTN	HGNC	HGNC:18654	protein_coding	YES	CCDS42443.1	ENSP00000255674	Q86VV8		UPI0000201E92	NM_173630.3	tolerated(0.22)		37/49		hmmpanther:PTHR31691,hmmpanther:PTHR31691:SF1																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	50	70057801	70057801	C	A	1	0	0	0	0	1	0	0	0	13998	478	17	2		2	RTTN	18	70057801	Missense_Mutation	SNP	C	C3N-00547_TP	6346463	70057801	10315484	603	16064											
SALL3	0	.	GRCh38	chr18	78994716	78994716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcaggccctgtcgccggccCccagcaatggtgagagcttc	6	6	13	16	3	0	1	0	1	0	1	2	2	0	1	4	3	2	3	4	3	1	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.2725C>A	p.Pro909Thr	p.P909T	ENST00000537592	2/3	93	74	19	200	200	0	strelka-varscan-mutect	SALL3,missense_variant,p.Pro909Thr,ENST00000537592,NM_171999.3;SALL3,missense_variant,p.Pro776Thr,ENST00000536229,;SALL3,missense_variant,p.Pro909Thr,ENST00000575389,;SALL3,missense_variant,p.Pro641Thr,ENST00000616649,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	A	ENST00000537592	Transcript	missense_variant	2725/6555	2725/3903	909/1300	P/T	Ccc/Acc		1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3	tolerated(0.25)		2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	78994716	78994716	C	A	1	0	0	0	0	1	0	0	0	14071	623	22	2		2	SALL3	18	78994716	Missense_Mutation	SNP	C	C3N-00547_TP	8936915	78994716	1378569	604	16065											
ATP9B	0	.	GRCh38	chr18	79337352	79337352	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggtagtcgagagcctggAgagggagatggaactgctgt	9	7	18	7	3	0	3	0	0	0	3	1	7	0	4	1	4	3	2	1	4	2	1	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.2186A>G	p.Glu729Gly	p.E729G	ENST00000426216	19/30	155	119	36	326	326	0	strelka-varscan-mutect	ATP9B,missense_variant,p.Glu729Gly,ENST00000426216,NM_198531.3;ATP9B,missense_variant,p.Glu729Gly,ENST00000307671,NM_001306085.1;ATP9B,intron_variant,,ENST00000458297,;ATP9B,downstream_gene_variant,,ENST00000589326,;ATP9B,downstream_gene_variant,,ENST00000589732,;RP11-800A18.4,downstream_gene_variant,,ENST00000592906,;ATP9B,synonymous_variant,p.=,ENST00000588895,;ATP9B,non_coding_transcript_exon_variant,,ENST00000490210,;	G	ENST00000426216	Transcript	missense_variant	2203/4361	2186/3444	729/1147	E/G	gAg/gGg		1		1	ATP9B	HGNC	HGNC:13541	protein_coding	YES	CCDS12014.1	ENSP00000398076	O43861		UPI00002371AF	NM_198531.3	deleterious(0)		19/30		hmmpanther:PTHR24092:SF50,hmmpanther:PTHR24092,Gene3D:3.40.1110.10,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,Superfamily_domains:SSF56784,Superfamily_domains:SSF81660																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	50	79337352	79337352	A	G	1	0	0	0	0	1	0	0	0	1352	304	11	5		5	ATP9B	18	79337352	Missense_Mutation	SNP	A	C3N-00547_TP	342636	79337352	1035933	605	16066											
ADNP2	0	.	GRCh38	chr18	80138601	80138601	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcttaaagattatttccAtaagaaaccatatcctagta	16	15	3	7	0	1	2	0	0	1	2	3	2	3	2	3	0	1	1	3	0	8	8	rs763214529		C3N-00547_TP	C3N-00547_NB	A	A																c.3188A>T	p.His1063Leu	p.H1063L	ENST00000262198	4/4	100	82	18	108	108	0	strelka-varscan-mutect	ADNP2,missense_variant,p.His1063Leu,ENST00000262198,NM_014913.3;ADNP2,intron_variant,,ENST00000561195,;ADNP2,downstream_gene_variant,,ENST00000560752,;ADNP2,downstream_gene_variant,,ENST00000559951,;ADNP2,downstream_gene_variant,,ENST00000560561,;	T	ENST00000262198	Transcript	missense_variant	3643/5393	3188/3396	1063/1131	H/L	cAt/cTt	rs763214529	1		1	ADNP2	HGNC	HGNC:23803	protein_coding	YES	CCDS32853.1	ENSP00000262198	Q6IQ32	A0A024R377	UPI0000071DEA	NM_014913.3	deleterious(0)		4/4		hmmpanther:PTHR15740,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		rs763214529	.												T	3	4	50	80138601	80138601	A	T	1	0	0	0	0	1	0	0	0	399	217	8	4		4	ADNP2	18	80138601	Missense_Mutation	SNP	A	C3N-00547_TP	801249	80138601	234684	606	16067											
C2CD4C	0	.	GRCh38	chr19	407449	407449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagccgcacgctgccccgagGgcccacgtggaccgtgtgct	5	5	14	17	5	0	0	0	0	0	0	0	2	0	1	5	2	3	3	5	2	0	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.913C>A	p.Pro305Thr	p.P305T	ENST00000332235	2/2	25	14	11	38	38	0	strelka-varscan-mutect	C2CD4C,missense_variant,p.Pro305Thr,ENST00000332235,NM_001136263.1;	T	ENST00000332235	Transcript	missense_variant	1118/3129	913/1266	305/421	P/T	Cct/Act		1		-1	C2CD4C	HGNC	HGNC:29417	protein_coding	YES	CCDS45890.1	ENSP00000328677	Q8TF44		UPI00001C2016	NM_001136263.1	deleterious(0.03)		2/2		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF116,Superfamily_domains:SSF49562																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	50	407449	407449	G	T	1	0	0	0	0	1	0	0	0	2028	1232	43	2		2	C2CD4C	19	407449	Missense_Mutation	SNP	G	C3N-00547_TP		407449	58210167	607	16068											
STK11	0	.	GRCh38	chr19	1220580	1220580	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcacggcaccgccacaGgcactgcacccgttcgcggc	6	4	13	18	5	0	0	0	0	0	0	1	0	0	0	3	4	2	6	3	4	0	1			C3N-00547_TP	C3N-00547_NB	G	G																c.598-1G>T		p.X200_splice	ENST00000326873		60	36	24	52	52	0	strelka-varscan-mutect	STK11,splice_acceptor_variant,,ENST00000586243,;STK11,splice_acceptor_variant,,ENST00000326873,NM_000455.4;STK11,splice_acceptor_variant,,ENST00000585851,;STK11,upstream_gene_variant,,ENST00000585465,;STK11,downstream_gene_variant,,ENST00000585748,;STK11,splice_acceptor_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000591133,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;STK11,downstream_gene_variant,,ENST00000593219,;	T	ENST00000326873	Transcript	splice_acceptor_variant	-/2611	598/1302	200/433			COSM3724562,COSM51521,COSM5337504	1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4				4/9												1,1,1						HIGH	1	SNV	1		1,1,1	1										PASS		.	.												T	5	4	50	1220580	1220580	G	T	1	0	0	0	0	0	0	1	0	15664	1014	35	2		2	STK11	19	1220580	Splice_Site	SNP	G	C3N-00547_TP	813131	1220580	57397036	608	16069											
CREB3L3	0	.	GRCh38	chr19	4171158	4171158	+	Missense_Mutation	SNP	A	A	T																															ccaccagcaagtcagcccagAcaggcacctgtgtcgcagtg																								novel		C3N-00547_TP	C3N-00547_NB	A	A																c.958A>T	p.Thr320Ser	p.T320S	ENST00000078445	8/10	480	257	223	501	501	0	strelka-varscan-mutect	CREB3L3,missense_variant,p.Thr320Ser,ENST00000078445,NM_032607.2;CREB3L3,missense_variant,p.Thr319Ser,ENST00000595923,NM_001271995.1;CREB3L3,missense_variant,p.Thr318Ser,ENST00000602257,NM_001271996.1;CREB3L3,missense_variant,p.Asp284Val,ENST00000602147,NM_001271997.1;SIRT6,downstream_gene_variant,,ENST00000337491,NM_016539.2;SIRT6,downstream_gene_variant,,ENST00000594279,NM_001321064.1;SIRT6,downstream_gene_variant,,ENST00000305232,NM_001193285.1;SIRT6,downstream_gene_variant,,ENST00000601488,NM_001321063.1;SIRT6,downstream_gene_variant,,ENST00000597896,;SIRT6,downstream_gene_variant,,ENST00000601571,;CREB3L3,non_coding_transcript_exon_variant,,ENST00000598894,;SIRT6,downstream_gene_variant,,ENST00000596119,;SIRT6,downstream_gene_variant,,ENST00000600938,NM_001321058.1;SIRT6,downstream_gene_variant,,ENST00000600540,;SIRT6,downstream_gene_variant,,ENST00000599365,NM_001321061.1;SIRT6,downstream_gene_variant,,ENST00000601069,;SIRT6,downstream_gene_variant,,ENST00000595670,;SIRT6,downstream_gene_variant,,ENST00000596298,;SIRT6,downstream_gene_variant,,ENST00000599394,;	T	ENST00000078445	Transcript	missense_variant	1105/2618	958/1386	320/461	T/S	Aca/Tca		1		1	CREB3L3	HGNC	HGNC:18855	protein_coding	YES	CCDS12121.1	ENSP00000078445	Q68CJ9		UPI000006FCF0	NM_032607.2	deleterious(0.02)		8/10		hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF98																	MODERATE	1	SNV	1			1										PASS		rs1321651639	.												T	3	4	50	4171158	4171158	A	T	1	0	0	0	0	1	0	0	0	3658	275	10	4		4	CREB3L3	19	4171158	Missense_Mutation	SNP	A	C3N-00547_TP	2950578	4171158	54446458	609	16070	346	2									
CREB3L3	0	.	GRCh38	chr19	4171160	4171160	+	Silent	SNP	A	A	T																															accagcaagtcagcccagacAggcacctgtgtcgcagtgag																								novel		C3N-00547_TP	C3N-00547_NB	A	A																c.960A>T	p.=	p.T320T	ENST00000078445	8/10	476	255	221	497	497	0	strelka-varscan-mutect	CREB3L3,missense_variant,p.Arg285Trp,ENST00000602147,NM_001271997.1;CREB3L3,synonymous_variant,p.=,ENST00000078445,NM_032607.2;CREB3L3,synonymous_variant,p.=,ENST00000595923,NM_001271995.1;CREB3L3,synonymous_variant,p.=,ENST00000602257,NM_001271996.1;SIRT6,downstream_gene_variant,,ENST00000337491,NM_016539.2;SIRT6,downstream_gene_variant,,ENST00000594279,NM_001321064.1;SIRT6,downstream_gene_variant,,ENST00000305232,NM_001193285.1;SIRT6,downstream_gene_variant,,ENST00000601488,NM_001321063.1;SIRT6,downstream_gene_variant,,ENST00000597896,;SIRT6,downstream_gene_variant,,ENST00000601571,;CREB3L3,non_coding_transcript_exon_variant,,ENST00000598894,;SIRT6,downstream_gene_variant,,ENST00000596119,;SIRT6,downstream_gene_variant,,ENST00000600938,NM_001321058.1;SIRT6,downstream_gene_variant,,ENST00000600540,;SIRT6,downstream_gene_variant,,ENST00000599365,NM_001321061.1;SIRT6,downstream_gene_variant,,ENST00000601069,;SIRT6,downstream_gene_variant,,ENST00000595670,;SIRT6,downstream_gene_variant,,ENST00000596298,;SIRT6,downstream_gene_variant,,ENST00000599394,;	T	ENST00000078445	Transcript	synonymous_variant	1107/2618	960/1386	320/461	T	acA/acT		1		1	CREB3L3	HGNC	HGNC:18855	protein_coding	YES	CCDS12121.1	ENSP00000078445	Q68CJ9		UPI000006FCF0	NM_032607.2			8/10		hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF98																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	4171160	4171160	A	T	1	0	0	0	0	0	0	0	1	3658	179	7	4		4	CREB3L3	19	4171160	Silent	SNP	A	C3N-00547_TP	2	4171160	54446456	610	16071	346	2									
KHSRP	0	.	GRCh38	chr19	6416384	6416384	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgggccacctgggccTggtccaactgggcagagagg	6	5	18	12	0	0	1	0	0	0	1	1	2	1	1	5	6	1	1	5	6	1	0	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.1512A>T	p.=	p.P504P	ENST00000398148	15/20	114	70	44	299	299	0	strelka-varscan-mutect	KHSRP,synonymous_variant,p.=,ENST00000398148,NM_003685.2;KHSRP,synonymous_variant,p.=,ENST00000619396,;KHSRP,synonymous_variant,p.=,ENST00000595223,;KHSRP,upstream_gene_variant,,ENST00000594496,;KHSRP,upstream_gene_variant,,ENST00000600480,;KHSRP,downstream_gene_variant,,ENST00000599395,;KHSRP,downstream_gene_variant,,ENST00000595548,;KHSRP,downstream_gene_variant,,ENST00000595258,;KHSRP,upstream_gene_variant,,ENST00000594745,;KHSRP,upstream_gene_variant,,ENST00000597656,;KHSRP,downstream_gene_variant,,ENST00000579148,;CTB-180A7.8,downstream_gene_variant,,ENST00000596254,;CTB-180A7.8,downstream_gene_variant,,ENST00000593563,;KHSRP,downstream_gene_variant,,ENST00000595112,;KHSRP,downstream_gene_variant,,ENST00000597704,;KHSRP,upstream_gene_variant,,ENST00000599642,;CTB-180A7.8,downstream_gene_variant,,ENST00000637688,;	A	ENST00000398148	Transcript	synonymous_variant	1605/2993	1512/2136	504/711	P	ccA/ccT		1		-1	KHSRP	HGNC	HGNC:6316	protein_coding	YES	CCDS45936.1	ENSP00000381216	Q92945		UPI000049DE96	NM_003685.2			15/20		Low_complexity_(Seg):seg,hmmpanther:PTHR10288:SF101,hmmpanther:PTHR10288																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	6416384	6416384	T	A	1	0	0	0	0	0	0	0	1	8072	1567	55	4		4	KHSRP	19	6416384	Silent	SNP	T	C3N-00547_TP	2245224	6416384	52201232	611	16072											
MUC16	0	.	GRCh38	chr19	8949772	8949772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccttggtgtgggggtcaGggtggatgttgactccatct	4	13	15	9	0	2	1	1	1	1	0	4	2	4	2	2	5	0	1	2	5	0	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.26998C>A	p.Leu9000Met	p.L9000M	ENST00000397910	3/84	147	81	66	169	169	0	strelka-varscan-mutect	MUC16,missense_variant,p.Leu9000Met,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	27202/43816	26998/43524	9000/14507	L/M	Ctg/Atg		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	8949772	8949772	G	T	1	0	0	0	0	1	0	0	0	9972	991	35	2		2	MUC16	19	8949772	Missense_Mutation	SNP	G	C3N-00547_TP	2533388	8949772	49667844	612	16073											
MUC16	0	.	GRCh38	chr19	8979940	8979940	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttgtcagcgctgaagtgCtggtgccaccaagggtacct	7	10	14	10	1	1	1	1	1	0	0	1	1	1	1	3	3	4	4	3	3	3	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1199G>T	p.Ser400Ile	p.S400I	ENST00000397910	1/84	198	125	73	257	257	0	strelka-varscan-mutect	MUC16,missense_variant,p.Ser400Ile,ENST00000397910,NM_024690.2;	A	ENST00000397910	Transcript	missense_variant	1403/43816	1199/43524	400/14507	S/I	aGc/aTc		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs1393657491	.												A	3	1	50	8979940	8979940	C	A	1	0	0	0	0	1	0	0	0	9972	797	28	2		2	MUC16	19	8979940	Missense_Mutation	SNP	C	C3N-00547_TP	30168	8979940	49637676	613	16074											
OR1M1	0	.	GRCh38	chr19	9093265	9093265	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaaccaagaaaccaaacCagtgcatctcaattcatcct	16	8	5	12	0	2	1	2	0	1	1	4	2	3	2	4	1	4	1	4	1	5	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.21C>A	p.=	p.T7T	ENST00000429566	1/1	62	30	32	61	60	1	strelka-varscan-mutect	OR1M1,synonymous_variant,p.=,ENST00000429566,NM_001004456.1;	A	ENST00000429566	Transcript	synonymous_variant	87/1035	21/942	7/313	T	acC/acA		1		1	OR1M1	HGNC	HGNC:8220	protein_coding	YES	CCDS32896.1	ENSP00000401966	Q8NGA1		UPI0000041C29	NM_001004456.1			1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF295,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	50	9093265	9093265	C	A	1	0	0	0	0	0	0	0	1	11046	581	21	2		2	OR1M1	19	9093265	Silent	SNP	C	C3N-00547_TP	113325	9093265	49524351	614	16075											
ZNF799	0	.	GRCh38	chr19	12391769	12391769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcatgcatatgtaataaaCtgggccaaaaaaacgctttc	15	11	6	9	1	1	0	1	0	1	0	3	0	1	0	1	1	3	3	1	1	7	4	rs770188151		C3N-00547_TP	C3N-00547_NB	C	C																c.629G>T	p.Ser210Ile	p.S210I	ENST00000430385	4/4	214	119	95	277	277	0	strelka-varscan-mutect	ZNF799,missense_variant,p.Ser178Ile,ENST00000419318,NM_001322497.1;ZNF799,missense_variant,p.Ser210Ile,ENST00000430385,NM_001080821.2;CTD-3105H18.16,downstream_gene_variant,,ENST00000595562,;ZNF799,downstream_gene_variant,,ENST00000595766,;ZNF799,non_coding_transcript_exon_variant,,ENST00000460935,;CTD-3105H18.14,intron_variant,,ENST00000435033,;	A	ENST00000430385	Transcript	missense_variant	830/2583	629/1932	210/643	S/I	aGt/aTt	rs770188151	1		-1	ZNF799	HGNC	HGNC:28071	protein_coding	YES	CCDS45989.1	ENSP00000411084	Q96GE5		UPI000016184E	NM_001080821.2	tolerated(0.06)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		rs770188151	.												A	3	1	50	12391769	12391769	C	A	1	0	0	0	0	1	0	0	0	18751	565	20	2		2	ZNF799	19	12391769	Missense_Mutation	SNP	C	C3N-00547_TP	3298504	12391769	46225847	615	16076											
CACNA1A	0	.	GRCh38	chr19	13335868	13335868	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgatgatgatgagggggatGaagtacaaccagttccaagt	13	8	13	7	1	0	4	0	4	0	0	1	6	1	5	3	2	2	2	3	2	4	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1020C>T	p.=	p.F340F	ENST00000360228	7/47	148	86	62	159	159	0	strelka-varscan-mutect	CACNA1A,synonymous_variant,p.=,ENST00000638009,NM_001127221.1;CACNA1A,synonymous_variant,p.=,ENST00000635895,;CACNA1A,synonymous_variant,p.=,ENST00000637769,;CACNA1A,synonymous_variant,p.=,ENST00000360228,NM_001127222.1;CACNA1A,synonymous_variant,p.=,ENST00000614285,;CACNA1A,synonymous_variant,p.=,ENST00000637736,;CACNA1A,synonymous_variant,p.=,ENST00000636389,;CACNA1A,synonymous_variant,p.=,ENST00000638029,NM_023035.2;CACNA1A,synonymous_variant,p.=,ENST00000637432,NM_000068.3;CACNA1A,synonymous_variant,p.=,ENST00000573710,;CACNA1A,synonymous_variant,p.=,ENST00000635727,;CACNA1A,synonymous_variant,p.=,ENST00000636012,;CACNA1A,synonymous_variant,p.=,ENST00000637276,;CACNA1A,synonymous_variant,p.=,ENST00000637927,;CACNA1A,synonymous_variant,p.=,ENST00000636549,NM_001174080.1;CACNA1A,non_coding_transcript_exon_variant,,ENST00000637966,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000636974,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000593160,;CACNA1A,upstream_gene_variant,,ENST00000636022,;	A	ENST00000360228	Transcript	synonymous_variant	1255/8627	1020/7521	340/2506	F	ttC/ttT		1		-1	CACNA1A	HGNC	HGNC:1388	protein_coding	YES	CCDS45998.1	ENSP00000353362	O00555		UPI0000141565	NM_001127222.1			7/47		Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	13335868	13335868	G	A	1	0	0	0	0	0	0	0	1	2226	1281	45	3		3	CACNA1A	19	13335868	Silent	SNP	G	C3N-00547_TP	944099	13335868	45281748	616	16077											
SAMD1	0	.	GRCh38	chr19	14089119	14089119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacacctggcgggtgcCgctgcccggggctggccccc	4	4	17	16	3	0	1	0	0	0	1	0	2	0	1	5	6	3	2	5	6	1	0	rs760405675		C3N-00547_TP	C3N-00547_NB	C	C																c.880G>T	p.Gly294Cys	p.G294C	ENST00000533683	2/5	136	71	65	139	139	0	strelka-varscan-mutect	SAMD1,missense_variant,p.Gly294Cys,ENST00000533683,NM_138352.1;SAMD1,5_prime_UTR_variant,,ENST00000269724,;PRKACA,downstream_gene_variant,,ENST00000308677,NM_002730.3;C19orf67,upstream_gene_variant,,ENST00000548523,NM_001277378.1;PRKACA,downstream_gene_variant,,ENST00000589994,NM_207518.2;PRKACA,downstream_gene_variant,,ENST00000590853,;PRKACA,downstream_gene_variant,,ENST00000587372,;C19orf67,upstream_gene_variant,,ENST00000343945,;PRKACA,downstream_gene_variant,,ENST00000350356,;C19orf67,upstream_gene_variant,,ENST00000547589,;SAMD1,downstream_gene_variant,,ENST00000541938,;PRKACA,downstream_gene_variant,,ENST00000588209,;	A	ENST00000533683	Transcript	missense_variant	1168/2164	880/1299	294/432	G/C	Ggc/Tgc	rs760405675	1		-1	SAMD1	HGNC	HGNC:17958	protein_coding	YES		ENSP00000431971		E9PIW9	UPI0000366D4A	NM_138352.1	tolerated(0.06)		2/5		hmmpanther:PTHR12247:SF82,hmmpanther:PTHR12247																	MODERATE	1	SNV	1			1										PASS		rs760405675	.												A	3	1	50	14089119	14089119	C	A	1	0	0	0	0	1	0	0	0	14073	652	23	1		1	SAMD1	19	14089119	Missense_Mutation	SNP	C	C3N-00547_TP	753251	14089119	44528497	617	16078											
CYP4F22	0	.	GRCh38	chr19	15551367	15551367	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taacactgctacgtttccgcCtgagcgtggaccgaacgcgc	8	8	11	14	6	0	1	0	1	0	0	1	3	1	2	3	1	5	2	3	1	3	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1492C>A	p.Leu498Met	p.L498M	ENST00000269703	14/14	330	174	156	393	392	1	strelka-varscan-mutect	CYP4F22,missense_variant,p.Leu498Met,ENST00000269703,NM_173483.3;CYP4F22,missense_variant,p.Leu498Met,ENST00000601005,;	A	ENST00000269703	Transcript	missense_variant	1691/2641	1492/1596	498/531	L/M	Ctg/Atg		1		1	CYP4F22	HGNC	HGNC:26820	protein_coding	YES	CCDS12331.1	ENSP00000269703	Q6NT55		UPI000013D84B	NM_173483.3	deleterious(0.02)		14/14		Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF53,Superfamily_domains:SSF48264																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	50	15551367	15551367	C	A	1	0	0	0	0	1	0	0	0	3992	680	24	2		2	CYP4F22	19	15551367	Missense_Mutation	SNP	C	C3N-00547_TP	1462248	15551367	43066249	618	16079											
C19orf44	0	.	GRCh38	chr19	16509716	16509716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccagcatgcagccaccatCtgaagcccccatggtgaaca	11	7	8	15	0	1	2	0	2	1	0	2	2	2	2	5	1	5	2	5	1	2	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1367C>G	p.Ser456Cys	p.S456C	ENST00000221671	5/9	201	183	18	245	245	0	strelka-varscan-mutect	C19orf44,missense_variant,p.Ser456Cys,ENST00000221671,NM_032207.3;C19orf44,missense_variant,p.Ser456Cys,ENST00000594035,NM_001288834.1;C19orf44,upstream_gene_variant,,ENST00000601288,;C19orf44,missense_variant,p.Ser456Cys,ENST00000593380,;CTD-3222D19.2,intron_variant,,ENST00000409035,;C19orf44,downstream_gene_variant,,ENST00000596592,;C19orf44,upstream_gene_variant,,ENST00000601109,;	G	ENST00000221671	Transcript	missense_variant	1523/3427	1367/1974	456/657	S/C	tCt/tGt		1		1	C19orf44	HGNC	HGNC:26141	protein_coding	YES	CCDS12345.1	ENSP00000221671	Q9H6X5		UPI0000070DFC	NM_032207.3	tolerated(0.08)		5/9		hmmpanther:PTHR22409,hmmpanther:PTHR22409:SF2																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	50	16509716	16509716	C	G	1	0	0	0	0	1	0	0	0	1911	913	32	4		4	C19orf44	19	16509716	Missense_Mutation	SNP	C	C3N-00547_TP	958349	16509716	42107900	619	16080											
MYO9B	0	.	GRCh38	chr19	17145467	17145467	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaattcatccaagtcagctAcctagagagtggcatcgtga	13	9	10	9	1	2	2	2	1	0	1	4	4	3	2	2	1	2	2	2	1	4	3	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.911A>G	p.Tyr304Cys	p.Y304C	ENST00000595618	3/40	152	116	36	201	200	1	strelka-varscan-mutect	MYO9B,missense_variant,p.Tyr304Cys,ENST00000595618,NM_001130065.1;MYO9B,missense_variant,p.Tyr304Cys,ENST00000594824,NM_004145.3;MYO9B,missense_variant,p.Tyr304Cys,ENST00000397274,;MYO9B,missense_variant,p.Tyr304Cys,ENST00000595641,;	G	ENST00000595618	Transcript	missense_variant	1063/7623	911/6069	304/2022	Y/C	tAc/tGc		1		1	MYO9B	HGNC	HGNC:7609	protein_coding	YES	CCDS46010.1	ENSP00000471457	Q13459		UPI000020367C	NM_001130065.1	deleterious(0.01)		3/40		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	17145467	17145467	A	G	1	0	0	0	0	1	0	0	0	10086	391	14	5		5	MYO9B	19	17145467	Missense_Mutation	SNP	A	C3N-00547_TP	635751	17145467	41472149	620	16081											
SUGP2	0	.	GRCh38	chr19	19025473	19025473	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttctgaatggggaacTggatatcttctgtccctggg	7	13	13	8	0	4	1	0	1	4	0	5	4	5	4	1	5	1	0	1	5	3	3	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.875A>T	p.Gln292Leu	p.Q292L	ENST00000452918	3/11	186	83	103	193	193	0	strelka-varscan-mutect	SUGP2,missense_variant,p.Gln292Leu,ENST00000452918,NM_001321699.1,NM_001017392.3;SUGP2,missense_variant,p.Gln292Leu,ENST00000601879,;SUGP2,missense_variant,p.Gln306Leu,ENST00000600377,;SUGP2,missense_variant,p.Gln292Leu,ENST00000337018,NM_001321697.1,NM_001321698.1,NM_014884.3;SUGP2,downstream_gene_variant,,ENST00000594445,;SUGP2,downstream_gene_variant,,ENST00000598202,;SUGP2,missense_variant,p.Gln292Leu,ENST00000600239,;SUGP2,missense_variant,p.Gln292Leu,ENST00000594773,;SUGP2,missense_variant,p.Gln292Leu,ENST00000330854,;SUGP2,intron_variant,,ENST00000598240,;	A	ENST00000452918	Transcript	missense_variant	949/6176	875/3249	292/1082	Q/L	cAg/cTg		1		-1	SUGP2	HGNC	HGNC:18641	protein_coding	YES	CCDS12392.1	ENSP00000389380	Q8IX01		UPI000019825D	NM_001321699.1,NM_001017392.3	tolerated(0.1)		3/11		hmmpanther:PTHR23340,hmmpanther:PTHR23340:SF2																	MODERATE	1	SNV	1			1										PASS		rs1406836392	.												A	3	1	50	19025473	19025473	T	A	1	0	0	0	0	1	0	0	0	15756	1580	55	4		4	SUGP2	19	19025473	Missense_Mutation	SNP	T	C3N-00547_TP	1880006	19025473	39592143	621	16082											
GMIP	0	.	GRCh38	chr19	19630525	19630525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctctctctggtcactctGtggagttggaatctgcaggg	5	13	13	10	0	5	0	1	0	4	0	7	2	6	2	1	4	1	2	1	4	1	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2485C>G	p.Gln829Glu	p.Q829E	ENST00000203556	20/21	154	100	54	235	235	0	strelka-varscan-mutect	GMIP,missense_variant,p.Gln829Glu,ENST00000203556,NM_016573.3;GMIP,missense_variant,p.Gln803Glu,ENST00000587238,NM_001288998.1,NM_001288999.1;LPAR2,upstream_gene_variant,,ENST00000542587,;LPAR2,upstream_gene_variant,,ENST00000586703,;LPAR2,upstream_gene_variant,,ENST00000407877,NM_004720.5;GMIP,downstream_gene_variant,,ENST00000593186,;LPAR2,upstream_gene_variant,,ENST00000588461,;LPAR2,upstream_gene_variant,,ENST00000591042,;LPAR2,upstream_gene_variant,,ENST00000588233,;LPAR2,upstream_gene_variant,,ENST00000592061,;GMIP,downstream_gene_variant,,ENST00000586269,;LPAR2,upstream_gene_variant,,ENST00000589311,;GMIP,downstream_gene_variant,,ENST00000587713,;LPAR2,upstream_gene_variant,,ENST00000590629,;	C	ENST00000203556	Transcript	missense_variant	2623/3538	2485/2913	829/970	Q/E	Cag/Gag		1		-1	GMIP	HGNC	HGNC:24852	protein_coding	YES	CCDS12408.1	ENSP00000203556	Q9P107	A0A024R7N1	UPI0000203862	NM_016573.3	tolerated(0.62)		20/21		hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	19630525	19630525	G	C	1	0	0	0	0	1	0	0	0	6370	1386	48	4		4	GMIP	19	19630525	Missense_Mutation	SNP	G	C3N-00547_TP	605052	19630525	38987091	622	16083											
ZNF676	0	.	GRCh38	chr19	22193103	22193103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaggtctggcttaaaggCagcaatacctgttttattaa	12	13	9	7	0	2	0	1	0	1	0	2	1	2	0	1	3	2	4	1	3	6	5	rs780562519		C3N-00547_TP	C3N-00547_NB	C	C																c.43G>T	p.Ala15Ser	p.A15S	ENST00000397121	2/3	45	26	19	78	78	0	strelka-varscan-mutect	ZNF676,missense_variant,p.Ala15Ser,ENST00000397121,NM_001001411.2;	A	ENST00000397121	Transcript	missense_variant	361/2944	43/1767	15/588	A/S	Gcc/Tcc	rs780562519,COSM5309578	1		-1	ZNF676	HGNC	HGNC:20429	protein_coding	YES	CCDS42539.1	ENSP00000380310	Q8N7Q3		UPI00002376EC	NM_001001411.2	deleterious(0.04)		2/3		PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF112											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs780562519	.												A	3	1	50	22193103	22193103	C	A	1	0	0	0	0	1	0	0	0	18656	710	25	2		2	ZNF676	19	22193103	Missense_Mutation	SNP	C	C3N-00547_TP	2562578	22193103	36424513	623	16084											
ZNF729	0	.	GRCh38	chr19	22315690	22315690	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcagcccttagaaaacAtaaggtaattcatactaggg	14	12	7	8	0	2	1	2	0	1	1	3	1	2	1	1	2	3	1	1	2	7	7	rs768103519		C3N-00547_TP	C3N-00547_NB	A	A																c.2273A>T	p.His758Leu	p.H758L	ENST00000601693	4/4	205	114	91	305	305	0	strelka-varscan-mutect	ZNF729,missense_variant,p.His758Leu,ENST00000601693,NM_001242680.1;	T	ENST00000601693	Transcript	missense_variant	2391/3877	2273/3759	758/1252	H/L	cAt/cTt	rs768103519	1		1	ZNF729	HGNC	HGNC:32464	protein_coding	YES	CCDS59368.1	ENSP00000469582	A6NN14		UPI000042600C	NM_001242680.1	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		rs768103519	.												T	3	4	50	22315690	22315690	A	T	1	0	0	0	0	1	0	0	0	18703	217	8	4		4	ZNF729	19	22315690	Missense_Mutation	SNP	A	C3N-00547_TP	122587	22315690	36301926	624	16085											
ATP4A	0	.	GRCh38	chr19	35559963	35559963	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgtccacaaaatgctCgatctcgatagcgatgggtg	11	10	12	8	3	1	1	0	1	1	0	4	5	2	1	1	1	2	1	1	1	3	1	rs140861099		C3N-00547_TP	C3N-00547_NB	C	C																c.898G>T	p.Glu300Ter	p.E300*	ENST00000262623	7/22	501	412	89	503	503	0	strelka-varscan-mutect	ATP4A,stop_gained,p.Glu300Ter,ENST00000262623,NM_000704.2;ATP4A,upstream_gene_variant,,ENST00000592131,;ATP4A,upstream_gene_variant,,ENST00000592767,;ATP4A,downstream_gene_variant,,ENST00000590916,;	A	ENST00000262623	Transcript	stop_gained	927/3709	898/3108	300/1035	E/*	Gag/Tag	rs140861099,COSM3532607	1		-1	ATP4A	HGNC	HGNC:819	protein_coding	YES	CCDS12467.1	ENSP00000262623	P20648		UPI000016A49B	NM_000704.2			7/22		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01106,TIGRFAM_domain:TIGR01494,Superfamily_domains:0049473											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs140861099	.												A	4	1	50	35559963	35559963	C	A	1	0	0	0	0	0	1	0	0	1298	893	31	1		1	ATP4A	19	35559963	Nonsense_Mutation	SNP	C	C3N-00547_TP	13244273	35559963	23057653	625	16086											
CATSPERG	0	.	GRCh38	chr19	38362759	38362759	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggacgtgggcgtggtgcTggccgaccccggctgcatcg	3	7	19	12	5	0	0	0	0	0	0	1	2	0	1	3	6	2	3	3	6	0	0			C3N-00547_TP	C3N-00547_NB	T	T																c.2402T>C	p.Leu801Pro	p.L801P	ENST00000409235	20/29	238	196	42	192	192	0	strelka-varscan-mutect	CATSPERG,missense_variant,p.Leu801Pro,ENST00000409235,NM_021185.4;CATSPERG,missense_variant,p.Leu761Pro,ENST00000410018,;CATSPERG,downstream_gene_variant,,ENST00000409410,;CATSPERG,downstream_gene_variant,,ENST00000489693,;AC005625.1,upstream_gene_variant,,ENST00000590304,;CATSPERG,downstream_gene_variant,,ENST00000466060,;CATSPERG,3_prime_UTR_variant,,ENST00000471517,;CATSPERG,3_prime_UTR_variant,,ENST00000312265,;CATSPERG,3_prime_UTR_variant,,ENST00000412458,;CATSPERG,upstream_gene_variant,,ENST00000492088,;CATSPERG,downstream_gene_variant,,ENST00000470292,;CATSPERG,downstream_gene_variant,,ENST00000585424,;	C	ENST00000409235	Transcript	missense_variant	2517/3746	2402/3480	801/1159	L/P	cTg/cCg	COSM5150152,COSM5150153	1		1	CATSPERG	HGNC	HGNC:25243	protein_coding	YES	CCDS12514.2	ENSP00000386962	Q6ZRH7		UPI000022A813	NM_021185.4	deleterious(0)		20/29		Pfam_domain:PF15064,hmmpanther:PTHR14327											1,1						MODERATE		SNV	5		1,1	1										PASS		rs1338521067	.												C	3	2	50	38362759	38362759	T	C	1	0	0	0	0	1	0	0	0	2393	1580	55	5		5	CATSPERG	19	38362759	Missense_Mutation	SNP	T	C3N-00547_TP	2802796	38362759	20254857	626	16087											
RYR1	0	.	GRCh38	chr19	38466381	38466381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacggctacaacatcgagcCtcctgaccaggagcccagtg	10	6	10	15	2	0	1	0	1	0	0	2	3	1	2	4	2	5	1	4	2	3	2			C3N-00547_TP	C3N-00547_NB	C	C																c.3161C>A	p.Pro1054His	p.P1054H	ENST00000359596	24/106	253	145	108	181	181	0	strelka-varscan-mutect	RYR1,missense_variant,p.Pro1054His,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Pro1054His,ENST00000359596,NM_000540.2;RYR1,non_coding_transcript_exon_variant,,ENST00000594111,;	A	ENST00000359596	Transcript	missense_variant	3161/15117	3161/15117	1054/5038	P/H	cCt/cAt	COSM270092	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2	deleterious(0)		24/106		PROSITE_profiles:PS50188,hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	50	38466381	38466381	C	A	1	0	0	0	0	1	0	0	0	14028	681	24	2		2	RYR1	19	38466381	Missense_Mutation	SNP	C	C3N-00547_TP	103622	38466381	20151235	627	16088											
RYR1	0	.	GRCh38	chr19	38486064	38486064	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcagccctgccatcccGctggaggccctgcgggacaa	6	5	12	18	3	1	0	1	0	0	0	2	2	2	2	5	3	3	1	5	3	1	0	rs747211958		C3N-00547_TP	C3N-00547_NB	G	G																c.5409G>T	p.=	p.P1803P	ENST00000359596	34/106	157	96	61	157	157	0	strelka-mutect	RYR1,synonymous_variant,p.=,ENST00000355481,NM_001042723.1;RYR1,synonymous_variant,p.=,ENST00000359596,NM_000540.2;	T	ENST00000359596	Transcript	synonymous_variant	5409/15117	5409/15117	1803/5038	P	ccG/ccT	rs747211958	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2			34/106		hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715																	LOW	1	SNV	5			1										PASS		rs747211958	.												T	2	4	50	38486064	38486064	G	T	1	0	0	0	0	0	0	0	1	14028	1074	38	1		1	RYR1	19	38486064	Silent	SNP	G	C3N-00547_TP	19683	38486064	20131552	628	16089											
ECH1	0	.	GRCh38	chr19	38815624	38815626	+	In_Frame_Del	DEL	AGA	AGA	-																															cgagggctctcagagcttggAgaaggtgacggttttcagtt																								novel		C3N-00547_TP	C3N-00547_NB	AGA	AGA																c.974_976delTCT	p.Phe325del	p.F325del	ENST00000221418	10/10	229	135	94	178	178	0	sindel-varindel-pindel	ECH1,inframe_deletion,p.Phe325del,ENST00000221418,NM_001398.2;LGALS4,upstream_gene_variant,,ENST00000307751,NM_006149.3;AC104534.3,downstream_gene_variant,,ENST00000594769,;ECH1,downstream_gene_variant,,ENST00000601778,;LGALS4,upstream_gene_variant,,ENST00000594209,;ECH1,downstream_gene_variant,,ENST00000595470,;AC104534.3,downstream_gene_variant,,ENST00000602021,;AC104534.2,upstream_gene_variant,,ENST00000594558,;LGALS4,upstream_gene_variant,,ENST00000597803,;ECH1,non_coding_transcript_exon_variant,,ENST00000594391,;ECH1,non_coding_transcript_exon_variant,,ENST00000601333,;LGALS4,upstream_gene_variant,,ENST00000595278,;ECH1,downstream_gene_variant,,ENST00000600178,;LGALS4,upstream_gene_variant,,ENST00000597153,;ECH1,downstream_gene_variant,,ENST00000598707,;ECH1,downstream_gene_variant,,ENST00000601060,;ECH1,downstream_gene_variant,,ENST00000594164,;ECH1,downstream_gene_variant,,ENST00000598316,;	-	ENST00000221418	Transcript	inframe_deletion	1207-1209/1411	974-976/987	325-326/328	FS/S	tTCTcc/tcc		1		-1	ECH1	HGNC	HGNC:3149	protein_coding	YES	CCDS33014.1	ENSP00000221418	Q13011		UPI0000071141	NM_001398.2			10/10		hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF43																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	50	38815624	38815624	AGA	-	1	0	1	0	1	0	0	0	0	4718	304	11	0		0	ECH1	19	38815624	In_Frame_Del	DEL	AGA	C3N-00547_TP	329560	38815624	19801992	629	16090											
ADCK4	0	.	GRCh38	chr19	40703613	40703613	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgaatgctctgggctaTgccggggtactgtaaaggga	8	10	15	8	1	2	1	0	1	2	0	2	2	2	2	1	4	3	5	1	4	5	3	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.727A>T	p.Ile243Leu	p.I243L	ENST00000324464	9/15	86	72	14	98	98	0	strelka-varscan-mutect	ADCK4,missense_variant,p.Ile243Leu,ENST00000324464,NM_024876.3;ADCK4,missense_variant,p.Ile202Leu,ENST00000243583,NM_001142555.2;ADCK4,missense_variant,p.Ile134Leu,ENST00000595254,;ADCK4,downstream_gene_variant,,ENST00000601967,;ADCK4,downstream_gene_variant,,ENST00000594084,;ADCK4,downstream_gene_variant,,ENST00000594720,;ADCK4,downstream_gene_variant,,ENST00000600080,;ADCK4,downstream_gene_variant,,ENST00000594490,;RNU6-195P,downstream_gene_variant,,ENST00000411352,;ADCK4,synonymous_variant,p.=,ENST00000599643,;ADCK4,non_coding_transcript_exon_variant,,ENST00000596455,;ADCK4,upstream_gene_variant,,ENST00000593724,;ADCK4,downstream_gene_variant,,ENST00000601451,;ADCK4,downstream_gene_variant,,ENST00000601304,;ADCK4,downstream_gene_variant,,ENST00000593544,;	A	ENST00000324464	Transcript	missense_variant	1029/2443	727/1635	243/544	I/L	Ata/Tta		1		-1	ADCK4	HGNC	HGNC:19041	protein_coding	YES	CCDS12562.1	ENSP00000315118	Q96D53		UPI0000071B0F	NM_024876.3	deleterious(0)		9/15		hmmpanther:PTHR10566,hmmpanther:PTHR10566:SF22,Pfam_domain:PF03109,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	40703613	40703613	T	A	1	0	0	0	0	1	0	0	0	334	1464	51	4		4	ADCK4	19	40703613	Missense_Mutation	SNP	T	C3N-00547_TP	1887989	40703613	17914003	630	16091											
EGLN2	0	.	GRCh38	chr19	40800796	40800796	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctctaccactgccagccCtcttcgggacggttttggcg	5	10	10	16	3	2	0	0	0	2	0	3	1	2	1	4	3	3	1	4	3	1	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.224C>G	p.Pro75Arg	p.P75R	ENST00000593726	1/5	155	143	12	129	129	0	strelka-varscan-mutect	EGLN2,missense_variant,p.Pro75Arg,ENST00000593726,;EGLN2,missense_variant,p.Pro75Arg,ENST00000406058,NM_053046.3;EGLN2,missense_variant,p.Pro75Arg,ENST00000303961,NM_080732.3;EGLN2,missense_variant,p.Pro75Arg,ENST00000593972,;EGLN2,missense_variant,p.Pro75Arg,ENST00000593525,;EGLN2,missense_variant,p.Pro75Arg,ENST00000594380,;EGLN2,missense_variant,p.Pro75Arg,ENST00000598654,;EGLN2,missense_variant,p.Pro75Arg,ENST00000601733,;RAB4B,downstream_gene_variant,,ENST00000357052,NM_016154.4;EGLN2,upstream_gene_variant,,ENST00000594140,;EGLN2,downstream_gene_variant,,ENST00000596517,;EGLN2,downstream_gene_variant,,ENST00000593397,;EGLN2,upstream_gene_variant,,ENST00000597746,;CTC-490E21.14,upstream_gene_variant,,ENST00000595728,;RAB4B-EGLN2,downstream_gene_variant,,ENST00000601949,;RAB4B-EGLN2,3_prime_UTR_variant,,ENST00000594136,;EGLN2,upstream_gene_variant,,ENST00000599579,;EGLN2,upstream_gene_variant,,ENST00000593445,;RAB4B,downstream_gene_variant,,ENST00000597476,;RAB4B,downstream_gene_variant,,ENST00000598430,;RAB4B,downstream_gene_variant,,ENST00000378307,;RAB4B-EGLN2,downstream_gene_variant,,ENST00000596216,;CTC-490E21.12,upstream_gene_variant,,ENST00000601627,;	G	ENST00000593726	Transcript	missense_variant	1252/2821	224/1224	75/407	P/R	cCt/cGt		1		1	EGLN2	HGNC	HGNC:14660	protein_coding	YES	CCDS12567.1	ENSP00000469686	Q96KS0	A0A024R0R2	UPI0000050C8F		deleterious_low_confidence(0)		1/5		Low_complexity_(Seg):seg,hmmpanther:PTHR12907:SF6,hmmpanther:PTHR12907																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	40800796	40800796	C	G	1	0	0	0	0	1	0	0	0	4805	681	24	4		4	EGLN2	19	40800796	Missense_Mutation	SNP	C	C3N-00547_TP	97183	40800796	17816820	631	16092											
CIC	0	.	GRCh38	chr19	42294688	42294688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaccctggaccagcgccGggccctggtcatgcagctct	5	6	13	17	3	2	0	1	0	1	0	2	1	2	1	4	3	3	3	4	3	0	0			C3N-00547_TP	C3N-00547_NB	G	G																c.4412G>T	p.Arg1471Leu	p.R1471L	ENST00000575354	19/20	560	318	242	454	454	0	strelka-varscan-mutect	CIC,missense_variant,p.Arg2377Leu,ENST00000572681,NM_001304815.1;CIC,missense_variant,p.Arg1469Leu,ENST00000160740,;CIC,missense_variant,p.Arg1471Leu,ENST00000575354,NM_015125.4;CIC,missense_variant,p.Arg183Leu,ENST00000576505,;CIC,missense_variant,p.Arg198Leu,ENST00000573349,;PAFAH1B3,downstream_gene_variant,,ENST00000538771,NM_001145940.1,NM_001145939.1;PAFAH1B3,downstream_gene_variant,,ENST00000262890,NM_002573.3;PAFAH1B3,downstream_gene_variant,,ENST00000594989,;PAFAH1B3,downstream_gene_variant,,ENST00000595530,;PAFAH1B3,downstream_gene_variant,,ENST00000596265,;CIC,3_prime_UTR_variant,,ENST00000575287,;CIC,non_coding_transcript_exon_variant,,ENST00000571033,;	T	ENST00000575354	Transcript	missense_variant	4452/5473	4412/4827	1471/1608	R/L	cGg/cTg	COSM3971029	1		1	CIC	HGNC	HGNC:14214	protein_coding	YES	CCDS12601.1	ENSP00000458663	Q96RK0		UPI000013C5A0	NM_015125.4	deleterious(0)		19/20		hmmpanther:PTHR13059											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	50	42294688	42294688	G	T	1	0	0	0	0	1	0	0	0	3186	1116	39	1		1	CIC	19	42294688	Missense_Mutation	SNP	G	C3N-00547_TP	1493892	42294688	16322928	632	16093											
PSG7	0	.	GRCh38	chr19	42907123	42907123	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggacaagtcgaggttttCtcctgaacggtaataggtga	11	10	13	7	2	1	2	0	2	1	0	3	4	1	3	1	4	1	3	1	4	4	4	rs1065520		C3N-00547_TP	C3N-00547_NB	C	C																c.1039G>T	p.Glu347Ter	p.E347*	ENST00000292125	5/6	200	171	29	214	214	0	varscan-mutect	PSG6,stop_gained,p.Glu347Ter,ENST00000187910,NM_001031850.3;PSG7,stop_gained,p.Glu348Ter,ENST00000617049,;PSG6,stop_gained,p.Glu254Ter,ENST00000402603,;PSG6,stop_gained,p.Glu347Ter,ENST00000292125,NM_002782.4;PSG6,downstream_gene_variant,,ENST00000594375,;PSG6,3_prime_UTR_variant,,ENST00000599753,;PSG6,non_coding_transcript_exon_variant,,ENST00000595062,;PSG6,downstream_gene_variant,,ENST00000402456,;PSG6,downstream_gene_variant,,ENST00000484292,;	A	ENST00000292125	Transcript	stop_gained	1084/1391	1039/1308	347/435	E/*	Gaa/Taa	rs1065520	1		-1	PSG6	HGNC	HGNC:9523	protein_coding	YES	CCDS12613.1	ENSP00000292125	Q00889		UPI00001327A1	NM_002782.4			5/6		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF669,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		rs1065520	.												A	4	1	50	42907123	42907123	C	A	1	0	0	0	0	0	1	0	0	12811	922	32	2		2	PSG7	19	42907123	Nonsense_Mutation	SNP	C	C3N-00547_TP	612435	42907123	15710493	633	16094											
EXOC3L2	0	.	GRCh38	chr19	45224852	45224852	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtccagagcactagcagAtgcttcccgggccggctcgc	7	7	13	14	3	0	2	0	0	0	2	3	2	2	2	3	3	3	4	3	3	1	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.1645T>A	p.Ser549Thr	p.S549T	ENST00000413988	8/12	71	41	30	81	81	0	strelka-varscan-mutect	EXOC3L2,missense_variant,p.Ser549Thr,ENST00000413988,;EXOC3L2,missense_variant,p.Ser156Thr,ENST00000252482,NM_138568.3;MARK4,intron_variant,,ENST00000587566,;	T	ENST00000413988	Transcript	missense_variant	1752/2964	1645/2409	549/802	S/T	Tct/Act		1		-1	EXOC3L2	Clone_based_vega_gene	HGNC:30162	protein_coding	YES		ENSP00000400713	Q2M3D2						8/12		Pfam_domain:PF06046,hmmpanther:PTHR21292,hmmpanther:PTHR21292:SF7,Low_complexity_(Seg):seg																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	50	45224852	45224852	A	T	1	0	0	0	0	1	0	0	0	5172	333	12	4		4	EXOC3L2	19	45224852	Missense_Mutation	SNP	A	C3N-00547_TP	2317729	45224852	13392764	634	16095											
EML2	0	.	GRCh38	chr19	45621244	45621244	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgtgtgcacggagcccTgcaggatggaattgcgggtg	7	8	17	9	2	0	0	0	0	0	0	0	3	0	3	2	4	5	2	2	4	1	1	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.1688A>C	p.Gln563Pro	p.Q563P	ENST00000587152	14/22	108	99	9	115	114	1	strelka-mutect	EML2,missense_variant,p.Gln509Pro,ENST00000536630,NM_001193269.1;EML2,missense_variant,p.Gln563Pro,ENST00000587152,NM_001193268.1;EML2,missense_variant,p.Gln362Pro,ENST00000589876,;EML2,missense_variant,p.Gln362Pro,ENST00000245925,NM_012155.2;EML2,missense_variant,p.Gln211Pro,ENST00000588496,;EML2,missense_variant,p.Gln103Pro,ENST00000590575,;EML2,missense_variant,p.Gln58Pro,ENST00000588272,;EML2,upstream_gene_variant,,ENST00000587484,;EML2,downstream_gene_variant,,ENST00000586902,;EML2,downstream_gene_variant,,ENST00000590580,;EML2,missense_variant,p.Gln520Pro,ENST00000399594,;EML2,missense_variant,p.Gln362Pro,ENST00000588308,;EML2,3_prime_UTR_variant,,ENST00000586195,;EML2,3_prime_UTR_variant,,ENST00000590819,;EML2,non_coding_transcript_exon_variant,,ENST00000588000,;EML2,non_coding_transcript_exon_variant,,ENST00000588610,;EML2,upstream_gene_variant,,ENST00000592482,;EML2,upstream_gene_variant,,ENST00000586405,;EML2,downstream_gene_variant,,ENST00000592853,;	G	ENST00000587152	Transcript	missense_variant	1873/2763	1688/2553	563/850	Q/P	cAg/cCg		1		-1	EML2	HGNC	HGNC:18035	protein_coding	YES	CCDS59399.1	ENSP00000468312	O95834		UPI0001DD21BF	NM_001193268.1	deleterious(0.01)		14/22		PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF32,Superfamily_domains:SSF50998																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	50	45621244	45621244	T	G	1	0	0	0	0	1	0	0	0	4940	1580	55	5		5	EML2	19	45621244	Missense_Mutation	SNP	T	C3N-00547_TP	396392	45621244	12996372	635	16096											
EML2	0	.	GRCh38	chr19	45621278	45621278	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtggtccccacgtacaGtgtgtctccgtggccctctg	3	10	14	14	3	2	0	0	0	2	0	4	0	3	0	4	3	1	1	4	3	1	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1654C>G	p.Leu552Val	p.L552V	ENST00000587152	14/22	89	56	33	70	70	0	strelka-varscan-mutect	EML2,missense_variant,p.Leu498Val,ENST00000536630,NM_001193269.1;EML2,missense_variant,p.Leu552Val,ENST00000587152,NM_001193268.1;EML2,missense_variant,p.Leu351Val,ENST00000589876,;EML2,missense_variant,p.Leu351Val,ENST00000245925,NM_012155.2;EML2,missense_variant,p.Leu200Val,ENST00000588496,;EML2,missense_variant,p.Leu92Val,ENST00000590575,;EML2,missense_variant,p.Leu47Val,ENST00000588272,;EML2,upstream_gene_variant,,ENST00000587484,;EML2,downstream_gene_variant,,ENST00000586902,;EML2,downstream_gene_variant,,ENST00000590580,;EML2,missense_variant,p.Leu509Val,ENST00000399594,;EML2,missense_variant,p.Leu351Val,ENST00000588308,;EML2,3_prime_UTR_variant,,ENST00000586195,;EML2,3_prime_UTR_variant,,ENST00000590819,;EML2,non_coding_transcript_exon_variant,,ENST00000588000,;EML2,non_coding_transcript_exon_variant,,ENST00000588610,;EML2,upstream_gene_variant,,ENST00000592482,;EML2,upstream_gene_variant,,ENST00000586405,;EML2,downstream_gene_variant,,ENST00000592853,;	C	ENST00000587152	Transcript	missense_variant	1839/2763	1654/2553	552/850	L/V	Ctg/Gtg		1		-1	EML2	HGNC	HGNC:18035	protein_coding	YES	CCDS59399.1	ENSP00000468312	O95834		UPI0001DD21BF	NM_001193268.1	tolerated(0.19)		14/22		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF32,Superfamily_domains:SSF50998																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	50	45621278	45621278	G	C	1	0	0	0	0	1	0	0	0	4940	1020	36	4		4	EML2	19	45621278	Missense_Mutation	SNP	G	C3N-00547_TP	34	45621278	12996338	636	16097											
DMWD	0	.	GRCh38	chr19	45785703	45785703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgggcgatcttcttgCacacaaggggctccagcagg	7	8	13	13	1	2	0	0	0	2	0	4	1	4	0	2	4	2	4	2	4	1	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1793G>T	p.Cys598Phe	p.C598F	ENST00000270223	3/5	85	52	33	99	99	0	strelka-varscan-mutect	DMWD,missense_variant,p.Cys598Phe,ENST00000270223,NM_004943.1;DMWD,missense_variant,p.Cys598Phe,ENST00000377735,;DMWD,missense_variant,p.Cys70Phe,ENST00000602829,;AC011530.4,missense_variant,p.Cys4Phe,ENST00000596586,;AC011530.4,missense_variant,p.Cys4Phe,ENST00000595946,;DMPK,upstream_gene_variant,,ENST00000600757,NM_001288765.1;DMPK,upstream_gene_variant,,ENST00000291270,NM_004409.4,NM_001288764.1;DMPK,upstream_gene_variant,,ENST00000447742,NM_001081560.2;DMPK,upstream_gene_variant,,ENST00000458663,NM_001081562.2;DMPK,upstream_gene_variant,,ENST00000618091,;DMPK,upstream_gene_variant,,ENST00000354227,NM_001288766.1;DMWD,upstream_gene_variant,,ENST00000537879,;DMWD,downstream_gene_variant,,ENST00000598237,;DMWD,downstream_gene_variant,,ENST00000597053,;DMWD,downstream_gene_variant,,ENST00000601370,;AC011530.4,missense_variant,p.Cys91Phe,ENST00000593999,;AC011530.4,missense_variant,p.Cys4Phe,ENST00000597712,;DMPK,upstream_gene_variant,,ENST00000588522,;DMWD,downstream_gene_variant,,ENST00000602469,;	A	ENST00000270223	Transcript	missense_variant	1839/3305	1793/2025	598/674	C/F	tGc/tTc		1		-1	DMWD	HGNC	HGNC:2936	protein_coding	YES	CCDS33054.1	ENSP00000270223	Q09019		UPI000040C0B4	NM_004943.1	deleterious(0.01)		3/5		hmmpanther:PTHR14107:SF15,hmmpanther:PTHR14107,Gene3D:2.130.10.10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	45785703	45785703	C	A	1	0	0	0	0	1	0	0	0	4402	710	25	2		2	DMWD	19	45785703	Missense_Mutation	SNP	C	C3N-00547_TP	164425	45785703	12831913	637	16098											
KCNJ14	0	.	GRCh38	chr19	48462225	48462225	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgtggccgccgtggtGctgcagtgcattgccggctg	2	9	17	13	4	0	0	0	0	0	0	0	0	0	0	4	3	4	5	4	3	0	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.501G>C	p.=	p.V167V	ENST00000391884	1/2	137	127	10	153	153	0	strelka-varscan-mutect	KCNJ14,synonymous_variant,p.=,ENST00000391884,;KCNJ14,synonymous_variant,p.=,ENST00000342291,NM_013348.3;CTC-273B12.7,upstream_gene_variant,,ENST00000595676,;CTC-273B12.5,downstream_gene_variant,,ENST00000600650,;CTC-273B12.5,downstream_gene_variant,,ENST00000600529,;CTC-273B12.5,downstream_gene_variant,,ENST00000593476,;CTC-273B12.5,downstream_gene_variant,,ENST00000596497,;	C	ENST00000391884	Transcript	synonymous_variant	977/3990	501/1311	167/436	V	gtG/gtC		1		1	KCNJ14	HGNC	HGNC:6260	protein_coding	YES	CCDS12721.1	ENSP00000375756	Q9UNX9		UPI000003E7B4				1/2		Gene3D:1.10.287.70,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF40,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	50	48462225	48462225	G	C	1	0	0	0	0	0	0	0	1	7964	1306	46	4		4	KCNJ14	19	48462225	Silent	SNP	G	C3N-00547_TP	2676522	48462225	10155391	638	16099											
SLC6A16	0	.	GRCh38	chr19	49290351	49290351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaaaagggtgatcatcaaGagcagtgcccacggtgggta	13	6	14	8	1	2	2	2	1	0	1	2	2	2	2	1	3	2	3	1	3	4	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1983C>T	p.=	p.L661L	ENST00000335875	12/12	136	124	12	126	126	0	strelka-varscan-mutect	SLC6A16,synonymous_variant,p.=,ENST00000335875,NM_014037.2;SLC6A16,3_prime_UTR_variant,,ENST00000454748,;SLC6A16,downstream_gene_variant,,ENST00000598828,;SLC6A16,downstream_gene_variant,,ENST00000598221,;	A	ENST00000335875	Transcript	synonymous_variant	2225/2938	1983/2211	661/736	L	ctC/ctT		1		-1	SLC6A16	HGNC	HGNC:13622	protein_coding	YES	CCDS42590.1	ENSP00000338627	Q9GZN6		UPI00001305CE	NM_014037.2			12/12		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF113,Pfam_domain:PF00209,Superfamily_domains:0053687																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	50	49290351	49290351	G	A	1	0	0	0	0	0	0	0	1	14962	929	33	3		3	SLC6A16	19	49290351	Silent	SNP	G	C3N-00547_TP	828126	49290351	9327265	639	16100											
SLC6A16	0	.	GRCh38	chr19	49290377	49290377	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcccacggtgggtatggtcGaagcacctcttttgactgtg	6	12	13	10	2	1	1	0	1	1	0	2	2	1	1	2	3	2	2	2	3	2	3	rs774455736		C3N-00547_TP	C3N-00547_NB	G	G																c.1957C>G	p.Arg653Gly	p.R653G	ENST00000335875	12/12	79	72	7	98	98	0	strelka-varscan-mutect	SLC6A16,missense_variant,p.Arg653Gly,ENST00000335875,NM_014037.2;SLC6A16,3_prime_UTR_variant,,ENST00000454748,;SLC6A16,downstream_gene_variant,,ENST00000598828,;SLC6A16,downstream_gene_variant,,ENST00000598221,;	C	ENST00000335875	Transcript	missense_variant	2199/2938	1957/2211	653/736	R/G	Cga/Gga	rs774455736	1		-1	SLC6A16	HGNC	HGNC:13622	protein_coding	YES	CCDS42590.1	ENSP00000338627	Q9GZN6		UPI00001305CE	NM_014037.2	deleterious(0)		12/12		PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF113,Pfam_domain:PF00209,Superfamily_domains:0053687																	MODERATE	1	SNV	5			1										PASS		rs774455736	.												C	3	2	50	49290377	49290377	G	C	1	0	0	0	0	1	0	0	0	14962	1066	37	4		4	SLC6A16	19	49290377	Missense_Mutation	SNP	G	C3N-00547_TP	26	49290377	9327239	640	16101											
CPT1C	0	.	GRCh38	chr19	49692392	49692392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcatctctcacgtttctGggtgaggagcggtgctggtc	6	11	15	9	2	3	1	1	1	2	0	5	2	3	2	0	5	2	3	0	5	1	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.140G>C	p.Trp47Ser	p.W47S	ENST00000392518	3/20	143	121	22	164	164	0	strelka-varscan-mutect	CPT1C,missense_variant,p.Trp47Ser,ENST00000392518,NM_001199752.2;CPT1C,missense_variant,p.Trp47Ser,ENST00000405931,NM_001136052.2;CPT1C,missense_variant,p.Trp47Ser,ENST00000323446,NM_152359.2;CPT1C,missense_variant,p.Trp47Ser,ENST00000598293,NM_001199753.1;CPT1C,missense_variant,p.Trp47Ser,ENST00000598396,;CPT1C,missense_variant,p.Trp47Ser,ENST00000594587,;CPT1C,missense_variant,p.Trp47Ser,ENST00000602019,;CPT1C,missense_variant,p.Trp47Ser,ENST00000595969,;ADM5,downstream_gene_variant,,ENST00000420022,NM_001101340.1;PRMT1,downstream_gene_variant,,ENST00000532489,;PRMT1,downstream_gene_variant,,ENST00000391851,NM_198318.4;PRMT1,downstream_gene_variant,,ENST00000454376,NM_001536.5;PRMT1,downstream_gene_variant,,ENST00000610806,NM_001207042.2;CTB-33G10.6,upstream_gene_variant,,ENST00000596472,;CPT1C,splice_region_variant,,ENST00000598714,;PRMT1,downstream_gene_variant,,ENST00000527866,;PRMT1,downstream_gene_variant,,ENST00000530361,;CPT1C,missense_variant,p.Trp47Ser,ENST00000598259,;CPT1C,missense_variant,p.Trp47Ser,ENST00000595568,;CPT1C,missense_variant,p.Trp47Ser,ENST00000596922,;CPT1C,missense_variant,p.Trp47Ser,ENST00000594038,;CPT1C,splice_region_variant,,ENST00000599023,;CPT1C,splice_region_variant,,ENST00000295404,;CPT1C,splice_region_variant,,ENST00000600944,;	C	ENST00000392518	Transcript	missense_variant,splice_region_variant	512/2910	140/2412	47/803	W/S	tGg/tCg		1		1	CPT1C	HGNC	HGNC:18540	protein_coding	YES	CCDS12779.1	ENSP00000376303	Q8TCG5	A0A024QZE3	UPI0000071C78	NM_001199752.2	tolerated(0.06)		3/20		Pfam_domain:PF16484																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	50	49692392	49692392	G	C	1	0	0	0	0	1	0	0	0	3630	1362	47	4		4	CPT1C	19	49692392	Missense_Mutation	SNP	G	C3N-00547_TP	402015	49692392	8925224	641	16102											
KLK10	0	.	GRCh38	chr19	51016045	51016045	+	Silent	SNP	G	G	T																															tccgttcgccttggcaggatGgggcctgagccctggtggta																								rs34070620		C3N-00547_TP	C3N-00547_NB	G	G																c.381C>A	p.=	p.P127P	ENST00000309958	4/6	175	121	54	129	129	0	strelka-varscan-mutect	KLK10,synonymous_variant,p.=,ENST00000309958,NM_002776.4;KLK10,synonymous_variant,p.=,ENST00000391805,NM_001077500.1;KLK10,synonymous_variant,p.=,ENST00000358789,NM_145888.2;KLK10,synonymous_variant,p.=,ENST00000599077,;CTB-147C22.9,downstream_gene_variant,,ENST00000594512,;CTC-518B2.12,downstream_gene_variant,,ENST00000596286,;KLK10,missense_variant,p.Pro30Gln,ENST00000601467,;KLK10,non_coding_transcript_exon_variant,,ENST00000599987,;	T	ENST00000309958	Transcript	synonymous_variant	600/3111	381/831	127/276	P	ccC/ccA	rs34070620	1		-1	KLK10	HGNC	HGNC:6358	protein_coding	YES	CCDS12817.1	ENSP00000311746	O43240		UPI000013CCB0	NM_002776.4			4/6		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF134,SMART_domains:SM00020,Superfamily_domains:SSF50494																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	51016045	51016045	G	T	1	0	0	0	0	0	0	0	1	8267	1335	47	2		2	KLK10	19	51016045	Silent	SNP	G	C3N-00547_TP	1323653	51016045	7601571	642	16103	347	2									
KLK10	0	.	GRCh38	chr19	51016046	51016046	+	Missense_Mutation	SNP	G	G	A																															ccgttcgccttggcaggatgGggcctgagccctggtggtac																										C3N-00547_TP	C3N-00547_NB	G	G																c.380C>T	p.Pro127Leu	p.P127L	ENST00000309958	4/6	173	120	53	119	119	0	strelka-varscan-mutect	KLK10,missense_variant,p.Pro127Leu,ENST00000309958,NM_002776.4;KLK10,missense_variant,p.Pro127Leu,ENST00000391805,NM_001077500.1;KLK10,missense_variant,p.Pro127Leu,ENST00000358789,NM_145888.2;KLK10,missense_variant,p.Pro127Leu,ENST00000599077,;CTB-147C22.9,downstream_gene_variant,,ENST00000594512,;CTC-518B2.12,downstream_gene_variant,,ENST00000596286,;KLK10,missense_variant,p.Pro30Ser,ENST00000601467,;KLK10,non_coding_transcript_exon_variant,,ENST00000599987,;	A	ENST00000309958	Transcript	missense_variant	599/3111	380/831	127/276	P/L	cCc/cTc	COSM5561500	1		-1	KLK10	HGNC	HGNC:6358	protein_coding	YES	CCDS12817.1	ENSP00000311746	O43240		UPI000013CCB0	NM_002776.4	deleterious_low_confidence(0)		4/6		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF134,SMART_domains:SM00020,Superfamily_domains:SSF50494											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	50	51016046	51016046	G	A	1	0	0	0	0	1	0	0	0	8267	1232	43	3		3	KLK10	19	51016046	Missense_Mutation	SNP	G	C3N-00547_TP	1	51016046	7601570	643	16104	347	2									
CEACAM18	0	.	GRCh38	chr19	51483066	51483066	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctgatgatttcaacggCattgtgacagctgagatcgg	11	11	11	8	2	1	4	1	4	0	1	3	5	2	4	1	2	2	2	1	2	2	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.723C>A	p.=	p.G241G	ENST00000396477	4/6	195	154	41	159	159	0	strelka-varscan-mutect	CEACAM18,synonymous_variant,p.=,ENST00000396477,NM_001278392.1;	A	ENST00000396477	Transcript	synonymous_variant	744/1476	723/1155	241/384	G	ggC/ggA		1		1	CEACAM18	HGNC	HGNC:31949	protein_coding	YES		ENSP00000379738	A8MTB9		UPI0002C5E52C	NM_001278392.1			4/6		PROSITE_profiles:PS50835,SMART_domains:SM00409																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	50	51483066	51483066	C	A	1	0	0	0	0	0	0	0	1	2895	697	25	2		2	CEACAM18	19	51483066	Silent	SNP	C	C3N-00547_TP	467020	51483066	7134550	644	16105											
AC018755.18	0	.	GRCh38	chr19	51629387	51629387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctggacagttctctccGtggtcacctgagctccttgg	5	12	12	12	1	2	2	1	2	1	0	5	3	4	3	3	3	2	3	3	3	0	2	rs756476592		C3N-00547_TP	C3N-00547_NB	G	G																c.671C>A	p.Thr224Lys	p.T224K	ENST00000534261	4/10	272	171	101	348	348	0	strelka-varscan-mutect	SIGLEC5,missense_variant,p.Thr224Lys,ENST00000534261,NM_003830.3;AC018755.18,missense_variant,p.Thr224Lys,ENST00000429354,;AC018755.18,missense_variant,p.Thr224Lys,ENST00000599649,;	T	ENST00000534261	Transcript	missense_variant	1071/2360	671/1656	224/551	T/K	aCg/aAg	rs756476592	1		-1	SIGLEC5	HGNC	HGNC:10874	protein_coding	YES	CCDS33088.1	ENSP00000473238	O15389		UPI000011B40C	NM_003830.3	deleterious(0.01)		4/10		PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF67,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		rs756476592	.												T	3	4	50	51629387	51629387	G	T	1	0	0	0	0	1	0	0	0	125	1145	40	1		1	AC018755.18	19	51629387	Missense_Mutation	SNP	G	C3N-00547_TP	146321	51629387	6988229	645	16106											
ZNF578	0	.	GRCh38	chr19	52511237	52511237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgtcacactagtgagaaaCcttacaagtgtaatgaatgt	15	11	9	6	0	1	2	1	2	0	1	1	4	1	2	1	0	2	1	1	0	6	3			C3N-00547_TP	C3N-00547_NB	C	C																c.856C>T	p.Pro286Ser	p.P286S	ENST00000421239	6/6	327	205	122	350	350	0	strelka-varscan-mutect	ZNF578,missense_variant,p.Pro286Ser,ENST00000421239,NM_001099694.1;ZNF578,downstream_gene_variant,,ENST00000601120,;CTD-3099C6.5,downstream_gene_variant,,ENST00000599143,;	T	ENST00000421239	Transcript	missense_variant	1100/2017	856/1773	286/590	P/S	Cct/Tct	COSM4818091	1		1	ZNF578	HGNC	HGNC:26449	protein_coding	YES	CCDS54310.1	ENSP00000459216	Q96N58		UPI000048A457	NM_001099694.1	deleterious(0.04)		6/6		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	50	52511237	52511237	C	T	1	0	0	0	0	1	0	0	0	18584	507	18	3		3	ZNF578	19	52511237	Missense_Mutation	SNP	C	C3N-00547_TP	881850	52511237	6106379	646	16107											
ERVV-2	0	.	GRCh38	chr19	53049712	53049712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catccatcccatgagcttctCcccagcaggctgccacccta	8	8	6	19	0	1	1	0	1	1	0	4	1	3	1	6	1	3	3	6	1	1	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.461C>A	p.Ser154Tyr	p.S154Y	ENST00000601417	2/2	107	67	40	113	113	0	strelka-varscan-mutect	ERVV-2,missense_variant,p.Ser154Tyr,ENST00000601417,NM_001191055.1;	A	ENST00000601417	Transcript	missense_variant	1067/2431	461/1608	154/535	S/Y	tCc/tAc		1		1	ERVV-2	HGNC	HGNC:39051	protein_coding	YES	CCDS59420.1	ENSP00000472919	B6SEH9	M9QSX5	UPI00018258B9	NM_001191055.1	deleterious(0.01)		2/2		hmmpanther:PTHR10424:SF8,hmmpanther:PTHR10424																	MODERATE	1	SNV	4			1										PASS		rs962478613	.												A	3	1	50	53049712	53049712	C	A	1	0	0	0	0	1	0	0	0	5107	855	30	2		2	ERVV-2	19	53049712	Missense_Mutation	SNP	C	C3N-00547_TP	538475	53049712	5567904	647	16108											
ZNF415	0	.	GRCh38	chr19	53108398	53108398	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatttcttttataaggtttCtccttagtatggataatttg	10	21	6	4	0	2	0	0	0	2	0	3	1	2	1	1	2	0	2	1	2	6	10	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1647G>A	p.=	p.E549E	ENST00000500065	4/4	86	79	7	77	77	0	strelka-varscan-mutect	ZNF415,synonymous_variant,p.=,ENST00000500065,NM_001136038.2;ZNF415,synonymous_variant,p.=,ENST00000421033,NM_001164309.1;ZNF415,synonymous_variant,p.=,ENST00000243643,NM_018355.3;ZNF415,synonymous_variant,p.=,ENST00000601493,;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF160,upstream_gene_variant,,ENST00000429604,NM_001322132.1,NM_001322129.1,NM_001322138.1,NM_001322134.1,NM_001322131.1,NM_001322133.1,NM_198893.2,NM_001102603.1;ZNF160,upstream_gene_variant,,ENST00000418871,NM_001322135.1,NM_001322128.1,NM_001322138.1,NM_001322136.1,NM_033288.3;ZNF160,upstream_gene_variant,,ENST00000355147,NM_001322126.1;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,downstream_gene_variant,,ENST00000601110,;ZNF415,downstream_gene_variant,,ENST00000595813,;ZNF160,upstream_gene_variant,,ENST00000599637,;ZNF415,downstream_gene_variant,,ENST00000601215,;ZNF415,downstream_gene_variant,,ENST00000595174,;ZNF160,upstream_gene_variant,,ENST00000596966,;ZNF415,downstream_gene_variant,,ENST00000595359,;ZNF415,downstream_gene_variant,,ENST00000602024,;ZNF160,upstream_gene_variant,,ENST00000596388,;ZNF160,upstream_gene_variant,,ENST00000594760,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;ZNF160,upstream_gene_variant,,ENST00000597112,;ZNF160,upstream_gene_variant,,ENST00000600924,;	T	ENST00000500065	Transcript	synonymous_variant	1981/2496	1647/1668	549/555	E	gaG/gaA		1		-1	ZNF415	HGNC	HGNC:20636	protein_coding	YES	CCDS54313.1	ENSP00000439435	Q09FC8		UPI0000E04BC1	NM_001136038.2			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF145,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	LOW		SNV	4			1										PASS		.	.												T	2	4	50	53108398	53108398	C	T	1	0	0	0	0	0	0	0	1	18464	912	32	3		3	ZNF415	19	53108398	Silent	SNP	C	C3N-00547_TP	58686	53108398	5509218	648	16109											
ZNF415	0	.	GRCh38	chr19	53116430	53116430	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggccacgtccctgaatgTcaactgtccgtaaaataata	13	10	8	10	2	1	1	1	1	0	0	3	2	3	1	3	1	1	1	3	1	6	3	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.19A>T	p.Thr7Ser	p.T7S	ENST00000500065	3/4	183	108	75	188	188	0	strelka-varscan-mutect	ZNF415,missense_variant,p.Thr7Ser,ENST00000594011,;ZNF415,missense_variant,p.Thr7Ser,ENST00000500065,NM_001136038.2;ZNF415,missense_variant,p.Thr7Ser,ENST00000595193,;ZNF415,missense_variant,p.Thr7Ser,ENST00000597503,;ZNF415,missense_variant,p.Thr7Ser,ENST00000597748,;ZNF415,missense_variant,p.Thr7Ser,ENST00000421033,NM_001164309.1;ZNF415,missense_variant,p.Thr7Ser,ENST00000243643,NM_018355.3;ZNF415,missense_variant,p.Thr7Ser,ENST00000599261,;ZNF415,missense_variant,p.Thr7Ser,ENST00000601110,;ZNF415,missense_variant,p.Thr7Ser,ENST00000595813,;ZNF415,missense_variant,p.Thr7Ser,ENST00000600574,;ZNF415,missense_variant,p.Thr53Ser,ENST00000595174,;ZNF415,missense_variant,p.Thr7Ser,ENST00000596051,;ZNF415,intron_variant,,ENST00000601493,;ZNF415,intron_variant,,ENST00000601215,;ZNF415,non_coding_transcript_exon_variant,,ENST00000596683,;ZNF415,non_coding_transcript_exon_variant,,ENST00000602110,;ZNF415,non_coding_transcript_exon_variant,,ENST00000596106,;ZNF415,non_coding_transcript_exon_variant,,ENST00000594286,;ZNF415,intron_variant,,ENST00000595359,;ZNF415,intron_variant,,ENST00000602024,;ZNF415,stop_lost,p.Ter104CysextTer17,ENST00000597877,;ZNF415,missense_variant,p.Thr7Ser,ENST00000600120,;ZNF415,missense_variant,p.Thr7Ser,ENST00000598578,;ZNF415,missense_variant,p.Thr7Ser,ENST00000598024,;ZNF415,non_coding_transcript_exon_variant,,ENST00000600098,;	A	ENST00000500065	Transcript	missense_variant	353/2496	19/1668	7/555	T/S	Aca/Tca		1		-1	ZNF415	HGNC	HGNC:20636	protein_coding	YES	CCDS54313.1	ENSP00000439435	Q09FC8		UPI0000E04BC1	NM_001136038.2	deleterious(0.03)		3/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF145,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637																	MODERATE	1	SNV	4			1										PASS		.	.												A	3	1	50	53116430	53116430	T	A	1	0	0	0	0	1	0	0	0	18464	1681	58	4		4	ZNF415	19	53116430	Missense_Mutation	SNP	T	C3N-00547_TP	8032	53116430	5501186	649	16110											
KIR3DX1	0	.	GRCh38	chr19	54535744	54535744	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagcttgaccaggggatgGaggctgggatccattacgtc	9	8	15	9	1	0	1	0	1	0	0	2	4	1	4	2	5	3	3	2	5	1	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.508G>T	p.Glu170Ter	p.E170*	ENST00000221567	4/9	421	395	26	352	352	0	strelka-varscan-mutect	KIR3DX1,stop_gained,p.Glu170Ter,ENST00000610811,;KIR3DX1,non_coding_transcript_exon_variant,,ENST00000611588,;KIR3DX1,stop_gained,p.Glu170Ter,ENST00000221567,;KIR3DX1,intron_variant,,ENST00000613375,;KIR3DX1,intron_variant,,ENST00000612759,;KIR3DX1,intron_variant,,ENST00000446586,;KIR3DX1,intron_variant,,ENST00000447145,;KIR3DX1,intron_variant,,ENST00000434659,;	T	ENST00000221567	Transcript	stop_gained,NMD_transcript_variant	515/1378	508/1059	170/352	E/*	Gag/Tag		1		1	KIR3DX1	HGNC	HGNC:25043	nonsense_mediated_decay	YES		ENSP00000221567	Q9H7L2		UPI0000DE238B				4/9		hmmpanther:PTHR11738:SF113,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	50	54535744	54535744	G	T	1	0	0	0	0	0	1	0	0	8187	1175	41	2		2	KIR3DX1	19	54535744	Nonsense_Mutation	SNP	G	C3N-00547_TP	1419314	54535744	4081872	650	16111											
KIR3DL2	0	.	GRCh38	chr19	54866721	54866721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accacagtcaggtcttgaggGggttttctagggagacaaca	11	9	13	8	0	3	2	1	1	2	1	3	3	3	2	1	4	1	1	1	4	2	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1358G>A	p.Gly453Glu	p.G453E	ENST00000326321	9/9	152	99	53	187	187	0	strelka-varscan-mutect	KIR3DL2,missense_variant,p.Gly453Glu,ENST00000326321,NM_006737.3;KIR3DL1,missense_variant,p.Gly453Glu,ENST00000402254,;KIR3DL2,missense_variant,p.Gly436Glu,ENST00000270442,NM_001242867.1;RNU6-222P,downstream_gene_variant,,ENST00000362438,;	A	ENST00000326321	Transcript	missense_variant	1391/1877	1358/1368	453/455	G/E	gGg/gAg		1		1	KIR3DL2	HGNC	HGNC:6339	protein_coding	YES	CCDS12906.1	ENSP00000325525	P43630	A0A0U1WNF3	UPI000012DB25	NM_006737.3	deleterious_low_confidence(0)		9/9																			MODERATE	1	SNV	1			1										PASS		rs1446401991	.												A	3	1	50	54866721	54866721	G	A	1	0	0	0	0	1	0	0	0	8185	1232	43	3		3	KIR3DL2	19	54866721	Missense_Mutation	SNP	G	C3N-00547_TP	330977	54866721	3750895	651	16112											
NLRP7	0	.	GRCh38	chr19	54923775	54923775	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagcacggaggtgccgttgCcccggaagcattgcaatcaa	11	6	12	12	3	1	0	1	0	0	0	1	2	1	2	3	3	5	4	3	3	3	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.3079G>C	p.Ala1027Pro	p.A1027P	ENST00000588756	13/13	580	384	196	552	552	0	strelka-varscan-mutect	NLRP7,missense_variant,p.Ala1027Pro,ENST00000588756,;NLRP7,missense_variant,p.Ala999Pro,ENST00000328092,NM_139176.3;NLRP7,missense_variant,p.Ala1027Pro,ENST00000592784,NM_001127255.1;NLRP7,missense_variant,p.Ala970Pro,ENST00000340844,NM_206828.3;NLRP7,missense_variant,p.Ala970Pro,ENST00000590030,;NLRP7,3_prime_UTR_variant,,ENST00000586379,;	G	ENST00000588756	Transcript	missense_variant	3566/3826	3079/3114	1027/1037	A/P	Gca/Cca		1		-1	NLRP7	HGNC	HGNC:22947	protein_coding	YES	CCDS46183.1	ENSP00000467123	Q8WX94		UPI000174C6C4		tolerated(0.35)		13/13																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	54923775	54923775	C	G	1	0	0	0	0	1	0	0	0	10520	739	26	4		4	NLRP7	19	54923775	Missense_Mutation	SNP	C	C3N-00547_TP	57054	54923775	3693841	652	16113											
NLRP7	0	.	GRCh38	chr19	54934489	54934489	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggaagaggagacttacGacaacatctgcaggaagtgt	14	7	13	7	1	1	2	0	0	1	2	1	6	1	4	0	3	3	1	0	3	4	1	rs372546461		C3N-00547_TP	C3N-00547_NB	G	G																c.2471C>A	p.Ser824Ter	p.S824*	ENST00000588756	9/13	372	308	64	318	318	0	strelka-varscan-mutect	NLRP7,stop_gained,p.Ser824Ter,ENST00000588756,;NLRP7,stop_gained,p.Ser796Ter,ENST00000328092,NM_139176.3;NLRP7,stop_gained,p.Ser824Ter,ENST00000592784,NM_001127255.1;NLRP7,stop_gained,p.Ser824Ter,ENST00000340844,NM_206828.3;NLRP7,stop_gained,p.Ser824Ter,ENST00000590030,;NLRP7,stop_gained,p.Ser824Ter,ENST00000586379,;	T	ENST00000588756	Transcript	stop_gained,splice_region_variant	2958/3826	2471/3114	824/1037	S/*	tCg/tAg	rs372546461	1		-1	NLRP7	HGNC	HGNC:22947	protein_coding	YES	CCDS46183.1	ENSP00000467123	Q8WX94		UPI000174C6C4				9/13		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF14,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	HIGH	1	SNV	1			1										PASS		rs372546461	.												T	4	4	50	54934489	54934489	G	T	1	0	0	0	0	0	1	0	0	10520	1072	37	1		1	NLRP7	19	54934489	Nonsense_Mutation	SNP	G	C3N-00547_TP	10714	54934489	3683127	653	16114											
NLRP2	0	.	GRCh38	chr19	54970138	54970138	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggcacacgagctccagaaGatcccccacaaggaggtaga	13	4	11	13	1	0	3	0	0	0	3	2	5	2	4	3	3	1	3	3	3	3	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.123G>C	p.Lys41Asn	p.K41N	ENST00000543010	2/13	658	415	243	651	651	0	strelka-varscan-mutect	NLRP2,missense_variant,p.Lys41Asn,ENST00000543010,NM_001174081.1;NLRP2,missense_variant,p.Lys41Asn,ENST00000448584,NM_017852.3;NLRP2,missense_variant,p.Lys41Asn,ENST00000537859,NM_001174082.1;NLRP2,missense_variant,p.Lys41Asn,ENST00000263437,;NLRP2,missense_variant,p.Lys41Asn,ENST00000339757,;NLRP2,missense_variant,p.Lys41Asn,ENST00000391721,;NLRP2,missense_variant,p.Lys41Asn,ENST00000427260,NM_001174083.1;NLRP2,missense_variant,p.Lys41Asn,ENST00000588619,;NLRP2,missense_variant,p.Lys41Asn,ENST00000588107,;NLRP2,missense_variant,p.Lys41Asn,ENST00000433772,;NLRP2,intron_variant,,ENST00000585500,;NLRP7,upstream_gene_variant,,ENST00000588756,;NLRP7,upstream_gene_variant,,ENST00000590659,;NLRP7,upstream_gene_variant,,ENST00000587103,;NLRP2,upstream_gene_variant,,ENST00000397169,;NLRP7,upstream_gene_variant,,ENST00000587844,;NLRP2,missense_variant,p.Lys41Asn,ENST00000539848,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;CTC-550B14.1,upstream_gene_variant,,ENST00000466725,;	C	ENST00000543010	Transcript	missense_variant	266/3576	123/3189	41/1062	K/N	aaG/aaC		1		1	NLRP2	HGNC	HGNC:22948	protein_coding	YES	CCDS12913.1	ENSP00000445135	Q9NX02		UPI000004C0CC	NM_001174081.1	deleterious(0.05)		2/13		PROSITE_profiles:PS50824,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF129,Gene3D:1.10.533.10,Pfam_domain:PF02758,SMART_domains:SM01289,Superfamily_domains:SSF47986																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	54970138	54970138	G	C	1	0	0	0	0	1	0	0	0	10514	933	33	4		4	NLRP2	19	54970138	Missense_Mutation	SNP	G	C3N-00547_TP	35649	54970138	3647478	654	16115											
NLRP8	0	.	GRCh38	chr19	55948115	55948115	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtactggcaccatgcccatCacctgggaccaggtcgagac	10	6	11	14	1	1	1	1	0	0	1	2	3	1	2	4	3	2	2	4	3	1	1	rs761430783		C3N-00547_TP	C3N-00547_NB	C	C																c.213C>T	p.=	p.I71I	ENST00000291971	1/10	318	290	28	345	345	0	strelka-varscan-mutect	NLRP8,synonymous_variant,p.=,ENST00000291971,NM_176811.2;NLRP8,synonymous_variant,p.=,ENST00000590542,;	T	ENST00000291971	Transcript	synonymous_variant	284/3934	213/3147	71/1048	I	atC/atT	rs761430783	1		1	NLRP8	HGNC	HGNC:22940	protein_coding	YES	CCDS12937.1	ENSP00000291971	Q86W28		UPI00001BB3C9	NM_176811.2			1/10		PROSITE_profiles:PS50824,hmmpanther:PTHR24106:SF54,hmmpanther:PTHR24106,Gene3D:1.10.533.10,Pfam_domain:PF02758,SMART_domains:SM01289,Superfamily_domains:SSF47986																	LOW	1	SNV	2			1										PASS		rs761430783	.												T	2	4	50	55948115	55948115	C	T	1	0	0	0	0	0	0	0	1	10521	816	29	3		3	NLRP8	19	55948115	Silent	SNP	C	C3N-00547_TP	977977	55948115	2669501	655	16116											
ZNF470	0	.	GRCh38	chr19	56576892	56576892	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtaaaccagaagacaCattttaggcaagagaccatc	16	8	8	9	0	0	3	0	0	0	3	1	4	0	3	2	1	2	3	2	1	5	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.463C>A	p.His155Asn	p.H155N	ENST00000330619	6/6	32	18	14	36	36	0	strelka-varscan-mutect	ZNF470,missense_variant,p.His155Asn,ENST00000330619,NM_001001668.3;ZNF470,missense_variant,p.His155Asn,ENST00000391709,;ZNF470,intron_variant,,ENST00000601902,;ZNF470,intron_variant,,ENST00000594953,;ZNF470,intron_variant,,ENST00000601059,;	A	ENST00000330619	Transcript	missense_variant	1149/7151	463/2154	155/717	H/N	Cat/Aat		1		1	ZNF470	HGNC	HGNC:22220	protein_coding	YES	CCDS33122.1	ENSP00000333223	Q6ECI4		UPI0000D61826	NM_001001668.3	tolerated(0.33)		6/6		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF282																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	56576892	56576892	C	A	1	0	0	0	0	1	0	0	0	18501	478	17	2		2	ZNF470	19	56576892	Missense_Mutation	SNP	C	C3N-00547_TP	628777	56576892	2040724	656	16117											
SMIM17	0	.	GRCh38	chr19	56645748	56645748	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgctgcctcgggagagccgGgcctgggagaagcctcctca	6	6	15	14	2	1	2	1	0	0	2	3	4	2	2	5	3	4	1	5	3	1	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.81G>T	p.=	p.R27R	ENST00000598409	2/4	179	104	75	173	173	0	strelka-varscan-mutect	SMIM17,synonymous_variant,p.=,ENST00000598409,NM_001193628.1;SMIM17,synonymous_variant,p.=,ENST00000600547,;	T	ENST00000598409	Transcript	synonymous_variant	247/1076	81/357	27/118	R	cgG/cgT		1		1	SMIM17	HGNC	HGNC:27114	protein_coding	YES	CCDS58683.1	ENSP00000471126	P0DL12		UPI000016107D	NM_001193628.1			2/4																			LOW	1	SNV	2			1										PASS		.	.												T	2	4	50	56645748	56645748	G	T	1	0	0	0	0	0	0	0	1	15104	1219	43	2		2	SMIM17	19	56645748	Silent	SNP	G	C3N-00547_TP	68856	56645748	1971868	657	16118											
ZNF543	0	.	GRCh38	chr19	57328707	57328707	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacctcaagcagcatcaacgGattcacactggggagaagcc	13	5	10	13	1	3	1	3	0	0	1	3	3	3	2	2	3	4	2	2	3	3	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1245G>T	p.=	p.R415R	ENST00000321545	4/4	243	149	94	265	265	0	strelka-varscan-mutect	ZNF543,synonymous_variant,p.=,ENST00000321545,NM_213598.3;	T	ENST00000321545	Transcript	synonymous_variant	1590/3659	1245/1803	415/600	R	cgG/cgT		1		1	ZNF543	HGNC	HGNC:25281	protein_coding	YES	CCDS33130.1	ENSP00000322545	Q08ER8		UPI00001D8197	NM_213598.3			4/4		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	57328707	57328707	G	T	1	0	0	0	0	0	0	0	1	18550	1161	41	2		2	ZNF543	19	57328707	Silent	SNP	G	C3N-00547_TP	682959	57328707	1288909	658	16119											
ZNF17	0	.	GRCh38	chr19	57420932	57420932	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtggcaaattctttgtGgacagctgtacactgaagag	12	11	12	6	0	1	2	0	1	1	1	1	4	1	3	0	2	2	3	0	2	4	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1440G>T	p.=	p.V480V	ENST00000601808	3/3	146	117	29	150	150	0	strelka-varscan-mutect	ZNF17,synonymous_variant,p.=,ENST00000307658,;ZNF17,synonymous_variant,p.=,ENST00000601808,NM_006959.2;AC004076.7,intron_variant,,ENST00000597410,;AC003002.6,downstream_gene_variant,,ENST00000596400,;AC003002.6,downstream_gene_variant,,ENST00000596617,;ZNF17,downstream_gene_variant,,ENST00000597350,;ZNF17,downstream_gene_variant,,ENST00000595206,;ZNF17,downstream_gene_variant,,ENST00000599867,;ZNF17,non_coding_transcript_exon_variant,,ENST00000602050,;ZNF17,downstream_gene_variant,,ENST00000595162,;	T	ENST00000601808	Transcript	synonymous_variant	1653/2524	1440/1989	480/662	V	gtG/gtT		1		1	ZNF17	HGNC	HGNC:12958	protein_coding	YES	CCDS42636.1	ENSP00000471905	P17021		UPI00001D8198	NM_006959.2			3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF166,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	50	57420932	57420932	G	T	1	0	0	0	0	0	0	0	1	18323	1335	47	2		2	ZNF17	19	57420932	Silent	SNP	G	C3N-00547_TP	92225	57420932	1196684	659	16120											
ZNF419	0	.	GRCh38	chr19	57491559	57491559	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaggctcctctaccgcaAtgtgatgctggagaacttta	10	11	10	10	1	2	3	1	1	1	2	3	4	3	3	2	2	3	3	2	2	4	3	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.164A>T	p.Asn55Ile	p.N55I	ENST00000424930	3/5	177	156	21	167	167	0	varscan-mutect	ZNF419,missense_variant,p.Asn55Ile,ENST00000347466,NM_001098494.1,NM_001291743.1;ZNF419,missense_variant,p.Asn55Ile,ENST00000424930,NM_001098491.1;ZNF419,missense_variant,p.Asn42Ile,ENST00000426954,NM_001098492.1;ZNF419,missense_variant,p.Asn54Ile,ENST00000221735,NM_024691.3;ZNF419,missense_variant,p.Asn41Ile,ENST00000415379,NM_001098496.1,NM_001098495.1;ZNF419,missense_variant,p.Asn41Ile,ENST00000442920,NM_001098493.1;ZNF419,missense_variant,p.Asn42Ile,ENST00000354197,;ZNF419,missense_variant,p.Asn31Ile,ENST00000618093,;ZNF419,missense_variant,p.Asn55Ile,ENST00000518999,;ZNF419,missense_variant,p.Asn54Ile,ENST00000521137,;ZNF419,missense_variant,p.Asn55Ile,ENST00000523882,;ZNF419,missense_variant,p.Asn41Ile,ENST00000523312,;ZNF419,missense_variant,p.Asn42Ile,ENST00000520540,;ZNF419,missense_variant,p.Asn42Ile,ENST00000521754,;ZNF419,missense_variant,p.Asn54Ile,ENST00000523138,;ZNF419,5_prime_UTR_variant,,ENST00000519310,;AC003005.4,missense_variant,p.Asn41Ile,ENST00000601674,;AC003005.4,missense_variant,p.Asn41Ile,ENST00000599674,;ZNF419,non_coding_transcript_exon_variant,,ENST00000522346,;ZNF419,non_coding_transcript_exon_variant,,ENST00000523439,;	T	ENST00000424930	Transcript	missense_variant	393/2323	164/1536	55/511	N/I	aAt/aTt		1		1	ZNF419	HGNC	HGNC:20648	protein_coding	YES	CCDS54325.1	ENSP00000388864	Q96HQ0		UPI0000E04CBA	NM_001098491.1	deleterious(0)		3/5		PROSITE_profiles:PS50805,hmmpanther:PTHR24387:SF195,hmmpanther:PTHR24387,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	57491559	57491559	A	T	1	0	0	0	0	1	0	0	0	18468	101	4	4		4	ZNF419	19	57491559	Missense_Mutation	SNP	A	C3N-00547_TP	70627	57491559	1126057	660	16121											
ZSCAN1	0	.	GRCh38	chr19	58040469	58040469	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctggtatctctggactcGgtcgaaccccaggactggag	7	10	13	11	2	2	0	0	0	2	0	5	4	2	3	2	5	1	2	2	5	2	2	rs143428215		C3N-00547_TP	C3N-00547_NB	G	G																c.390G>T	p.=	p.S130S	ENST00000282326	4/6	178	156	22	173	173	0	strelka-varscan-mutect	ZSCAN1,synonymous_variant,p.=,ENST00000282326,NM_182572.3;ZSCAN1,downstream_gene_variant,,ENST00000391700,;ZSCAN1,downstream_gene_variant,,ENST00000601162,;LETM1P2,upstream_gene_variant,,ENST00000597330,;	T	ENST00000282326	Transcript	synonymous_variant	637/2054	390/1227	130/408	S	tcG/tcT	rs143428215	1		1	ZSCAN1	HGNC	HGNC:23712	protein_coding	YES	CCDS12969.1	ENSP00000282326	Q8NBB4		UPI000013DCD2	NM_182572.3			4/6		hmmpanther:PTHR10032:SF187,hmmpanther:PTHR10032,SMART_domains:SM00431																	LOW	1	SNV	2			1										PASS		rs143428215	.												T	2	4	50	58040469	58040469	G	T	1	0	0	0	0	0	0	0	1	18820	1103	39	1		1	ZSCAN1	19	58040469	Silent	SNP	G	C3N-00547_TP	548910	58040469	577147	661	16122											
TGM3	0	.	GRCh38	chr20	2339967	2339967	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggagggaagcggcctgctGttgggtaacctgaagatcga	9	8	17	7	2	0	2	0	1	0	1	1	5	0	4	2	4	3	3	2	4	3	2	rs144898218		C3N-00547_TP	C3N-00547_NB	G	G																c.1914G>T	p.=	p.L638L	ENST00000381458	12/13	240	204	36	182	182	0	strelka-mutect	TGM3,synonymous_variant,p.=,ENST00000381458,NM_003245.3;	T	ENST00000381458	Transcript	synonymous_variant	1977/2642	1914/2082	638/693	L	ctG/ctT	rs144898218	1		1	TGM3	HGNC	HGNC:11779	protein_coding	YES	CCDS33435.1	ENSP00000370867	Q08188		UPI0000136CCC	NM_003245.3			12/13		Gene3D:2.60.40.10,Pfam_domain:PF00927,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF36,Superfamily_domains:SSF49309																	LOW	1	SNV	1			1										PASS		rs144898218	.												T	2	4	50	2339967	2339967	G	T	1	0	0	0	0	0	0	0	1	16264	1364	48	2		2	TGM3	20	2339967	Silent	SNP	G	C3N-00547_TP		2339967	62104200	662	16123											
TGM6	0	.	GRCh38	chr20	2403721	2403721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgaggatgagagccgggagCgtgtatactcaaacacgaag	14	5	14	8	4	1	1	1	1	0	1	1	6	1	3	1	2	4	1	1	2	4	2	rs200536588		C3N-00547_TP	C3N-00547_NB	C	C																c.1234C>A	p.Arg412Ser	p.R412S	ENST00000202625	9/13	731	629	102	600	600	0	strelka-varscan-mutect	TGM6,missense_variant,p.Arg412Ser,ENST00000202625,NM_198994.2;TGM6,missense_variant,p.Arg412Ser,ENST00000381423,NM_001254734.1;TGM6,downstream_gene_variant,,ENST00000477505,;	A	ENST00000202625	Transcript	missense_variant	1295/2292	1234/2121	412/706	R/S	Cgt/Agt	rs200536588,COSM4136783	1		1	TGM6	HGNC	HGNC:16255	protein_coding	YES	CCDS13025.1	ENSP00000202625	O95932		UPI0000367011	NM_198994.2	deleterious(0)		9/13		hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF50,PIRSF_domain:PIRSF000459,Gene3D:1ex0A02,Superfamily_domains:SSF54001											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs200536588	.												A	3	1	50	2403721	2403721	C	A	1	0	0	0	0	1	0	0	0	16267	768	27	1		1	TGM6	20	2403721	Missense_Mutation	SNP	C	C3N-00547_TP	63754	2403721	62040446	663	16124											
AL031664.1	0	.	GRCh38	chr20	17494634	17494634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatagaatctagggtccaCgtaattggcatcccctgtga	11	10	10	10	1	1	2	0	1	1	1	3	3	3	2	3	2	0	2	3	2	4	4	rs767136257		C3N-00547_TP	C3N-00547_NB	C	C																c.1438G>A	p.Val480Met	p.V480M	ENST00000377873	8/8	216	192	24	181	181	0	strelka-varscan-mutect	BFSP1,missense_variant,p.Val480Met,ENST00000377873,NM_001195.4;BFSP1,missense_variant,p.Val355Met,ENST00000377868,NM_001161705.1,NM_001278607.1;AL031664.1,missense_variant,p.Val341Met,ENST00000536626,NM_001278606.1,NM_001278608.1;	T	ENST00000377873	Transcript	missense_variant	1478/2207	1438/1998	480/665	V/M	Gtg/Atg	rs767136257,COSM1740669,COSM1740670	1		-1	BFSP1	HGNC	HGNC:1040	protein_coding	YES	CCDS13126.1	ENSP00000367104	Q12934		UPI00001268C7	NM_001195.4	tolerated(0.11)		8/8		hmmpanther:PTHR14069,hmmpanther:PTHR14069:SF0											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs767136257	.												T	3	4	50	17494634	17494634	C	T	1	0	0	0	0	1	0	0	0	568	536	19	1		1	AL031664.1	20	17494634	Missense_Mutation	SNP	C	C3N-00547_TP	15090913	17494634	46949533	664	16125											
SNX5	0	.	GRCh38	chr20	17956940	17956940	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttacttacctttgtgTgcactgtaaatttgactttg	8	18	8	7	0	0	1	0	1	0	0	0	1	0	1	1	0	3	4	1	0	4	6	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.149A>C	p.His50Pro	p.H50P	ENST00000377768	3/14	169	99	70	107	107	0	strelka-varscan-mutect	SNX5,missense_variant,p.His50Pro,ENST00000377768,NM_152227.2,NM_001282454.1;SNX5,missense_variant,p.His50Pro,ENST00000377759,NM_014426.3;SNX5,missense_variant,p.His50Pro,ENST00000431277,;SNX5,intron_variant,,ENST00000419004,;SNX5,non_coding_transcript_exon_variant,,ENST00000483485,;SNX5,non_coding_transcript_exon_variant,,ENST00000490175,;SNX5,non_coding_transcript_exon_variant,,ENST00000475716,;SNX5,non_coding_transcript_exon_variant,,ENST00000469704,;SNX5,non_coding_transcript_exon_variant,,ENST00000474883,;SNX5,non_coding_transcript_exon_variant,,ENST00000494401,;SNX5,upstream_gene_variant,,ENST00000476648,;OVOL2,downstream_gene_variant,,ENST00000486776,;	G	ENST00000377768	Transcript	missense_variant	462/2288	149/1215	50/404	H/P	cAc/cCc		1		-1	SNX5	HGNC	HGNC:14969	protein_coding	YES	CCDS13130.1	ENSP00000366998	Q9Y5X3		UPI0000135B43	NM_152227.2,NM_001282454.1	deleterious(0)		3/14		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PIRSF_domain:PIRSF036924,PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF6,Superfamily_domains:SSF64268																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	17956940	17956940	T	G	1	0	0	0	0	1	0	0	0	15226	1696	59	5		5	SNX5	20	17956940	Missense_Mutation	SNP	T	C3N-00547_TP	462306	17956940	46487227	665	16126											
CFAP61	0	.	GRCh38	chr20	20263049	20263049	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacacggggaaagttcctTgcaaccatttcactctcaac	11	10	8	12	1	2	0	2	0	1	0	4	1	3	1	2	3	4	3	2	3	4	4	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.2422T>G	p.Cys808Gly	p.C808G	ENST00000245957	21/27	180	165	15	178	178	0	strelka-varscan-mutect	CFAP61,missense_variant,p.Cys808Gly,ENST00000245957,NM_015585.3;CFAP61,missense_variant,p.Cys164Gly,ENST00000377293,;CFAP61,missense_variant,p.Cys164Gly,ENST00000389656,;RP5-1096J16.1,intron_variant,,ENST00000460400,;CFAP61,non_coding_transcript_exon_variant,,ENST00000488640,;CFAP61,missense_variant,p.Cys164Gly,ENST00000377308,;	G	ENST00000245957	Transcript	missense_variant	2498/4082	2422/3714	808/1237	C/G	Tgc/Ggc		1		1	CFAP61	HGNC	HGNC:15872	protein_coding	YES	CCDS33447.1	ENSP00000245957	Q8NHU2		UPI0000206AE4	NM_015585.3	tolerated(0.11)		21/27		hmmpanther:PTHR21178,hmmpanther:PTHR21178:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	50	20263049	20263049	T	G	1	0	0	0	0	1	0	0	0	3028	1812	63	5		5	CFAP61	20	20263049	Missense_Mutation	SNP	T	C3N-00547_TP	2306109	20263049	44181118	666	16127											
XRN2	0	.	GRCh38	chr20	21330536	21330536	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacagcaactgtattacAccagtaagtagtctcatact	13	13	6	9	0	1	1	1	1	1	0	2	1	1	1	1	0	4	4	1	0	6	6	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.483A>T	p.=	p.T161T	ENST00000377191	5/30	208	187	21	203	203	0	strelka-varscan-mutect	XRN2,synonymous_variant,p.=,ENST00000377191,NM_001317960.1,NM_012255.3;	T	ENST00000377191	Transcript	synonymous_variant	578/3437	483/2853	161/950	T	acA/acT		1		1	XRN2	HGNC	HGNC:12836	protein_coding	YES	CCDS13144.1	ENSP00000366396	Q9H0D6		UPI0000037D02	NM_001317960.1,NM_012255.3			5/30		Pfam_domain:PF03159,PIRSF_domain:PIRSF037239,hmmpanther:PTHR12341,hmmpanther:PTHR12341:SF35																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	21330536	21330536	A	T	1	0	0	0	0	0	0	0	1	18018	173	6	4		4	XRN2	20	21330536	Silent	SNP	A	C3N-00547_TP	1067487	21330536	43113631	667	16128											
DEFB123	0	.	GRCh38	chr20	31450033	31450033	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctttgtgtcaggtggCacccaaagatgctggaatct	8	13	11	9	0	3	1	1	0	2	1	3	2	3	2	1	3	2	3	1	3	2	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.63C>A	p.=	p.G21G	ENST00000376309	2/2	73	58	15	95	95	0	strelka-varscan-mutect	DEFB123,synonymous_variant,p.=,ENST00000376309,NM_153324.3;	A	ENST00000376309	Transcript	synonymous_variant	243/467	63/204	21/67	G	ggC/ggA		1		1	DEFB123	HGNC	HGNC:18103	protein_coding	YES	CCDS13180.1	ENSP00000365486	Q8N688		UPI0000128D96	NM_153324.3			2/2		hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF3,PD866254																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	31450033	31450033	C	A	1	0	0	0	0	0	0	0	1	4212	724	25	2		2	DEFB123	20	31450033	Silent	SNP	C	C3N-00547_TP	10119497	31450033	32994134	668	16129											
TLDC2	0	.	GRCh38	chr20	36879189	36879189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgctcagggaccaggacgGgcaggtgagctgggcagggg	7	4	22	8	1	1	1	1	1	0	0	1	3	1	3	1	8	2	4	1	8	0	0	rs779293943		C3N-00547_TP	C3N-00547_NB	G	G																c.338G>T	p.Gly113Val	p.G113V	ENST00000217320	3/7	112	100	12	141	141	0	strelka-varscan-mutect	TLDC2,missense_variant,p.Gly113Val,ENST00000217320,NM_080628.2,NM_001304783.1;TLDC2,missense_variant,p.Gly113Val,ENST00000602922,;	T	ENST00000217320	Transcript	missense_variant	382/2083	338/648	113/215	G/V	gGg/gTg	rs779293943	1		1	TLDC2	HGNC	HGNC:16112	protein_coding	YES	CCDS33465.1	ENSP00000217320	A0PJX2		UPI000049DF51	NM_080628.2,NM_001304783.1	deleterious(0)		3/7		hmmpanther:PTHR23354,hmmpanther:PTHR23354:SF65,Pfam_domain:PF07534,SMART_domains:SM00584																	MODERATE	1	SNV	1			1										PASS		rs779293943	.												T	3	4	50	36879189	36879189	G	T	1	0	0	0	0	1	0	0	0	16383	1246	43	2		2	TLDC2	20	36879189	Missense_Mutation	SNP	G	C3N-00547_TP	5429156	36879189	27564978	669	16130											
RALGAPB	0	.	GRCh38	chr20	38525966	38525966	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaataacttttctgtccctGaagttgagacttgtgaatat	11	15	7	8	0	1	3	0	3	1	1	2	4	2	3	2	0	1	1	2	0	5	6	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1974G>T	p.=	p.L658L	ENST00000262879	13/30	148	99	49	228	228	0	strelka-varscan-mutect	RALGAPB,synonymous_variant,p.=,ENST00000262879,NM_001282917.1,NM_020336.3;RALGAPB,synonymous_variant,p.=,ENST00000397042,NM_001282918.1;RALGAPB,synonymous_variant,p.=,ENST00000397040,;RALGAPB,synonymous_variant,p.=,ENST00000632792,;RALGAPB,synonymous_variant,p.=,ENST00000438490,;RALGAPB,non_coding_transcript_exon_variant,,ENST00000461423,;	T	ENST00000262879	Transcript	synonymous_variant	2258/8663	1974/4485	658/1494	L	ctG/ctT		1		1	RALGAPB	HGNC	HGNC:29221	protein_coding	YES	CCDS13305.1	ENSP00000262879	Q86X10		UPI000000DBFD	NM_001282917.1,NM_020336.3			13/30		hmmpanther:PTHR21344																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	38525966	38525966	G	T	1	0	0	0	0	0	0	0	1	13174	1277	45	2		2	RALGAPB	20	38525966	Silent	SNP	G	C3N-00547_TP	1646777	38525966	25918201	670	16131											
CHD6	0	.	GRCh38	chr20	41415332	41415332	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccagtcacaggatggaTcaggccagcttgcagaatcc	10	8	11	12	0	2	1	2	0	0	1	4	3	4	3	3	3	2	2	3	3	1	1	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.6793A>G	p.Ile2265Val	p.I2265V	ENST00000373233	34/37	369	322	47	442	442	0	strelka-varscan-mutect	CHD6,missense_variant,p.Ile2265Val,ENST00000373233,NM_032221.4;CHD6,upstream_gene_variant,,ENST00000480022,;	C	ENST00000373233	Transcript	missense_variant	6971/10818	6793/8148	2265/2715	I/V	Atc/Gtc		1		-1	CHD6	HGNC	HGNC:19057	protein_coding	YES	CCDS13317.1	ENSP00000362330	Q8TD26		UPI0000168656	NM_032221.4	deleterious(0.04)		34/37																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	41415332	41415332	T	C	1	0	0	0	0	1	0	0	0	3088	1435	50	5		5	CHD6	20	41415332	Missense_Mutation	SNP	T	C3N-00547_TP	2889366	41415332	23028835	671	16132											
SGK2	0	.	GRCh38	chr20	43566333	43566333	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgcaggggttgcttacCtcgggtaggaaaccctcagg	8	9	13	11	1	1	0	1	0	0	0	3	1	2	1	3	5	4	4	3	5	3	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.18C>T	p.=	p.T6T	ENST00000341458	1/12	76	48	28	70	70	0	strelka-varscan-mutect	SGK2,synonymous_variant,p.=,ENST00000341458,NM_016276.3;SGK2,synonymous_variant,p.=,ENST00000426287,;SGK2,intron_variant,,ENST00000373100,;SGK2,intron_variant,,ENST00000423407,NM_001199264.1;SGK2,intron_variant,,ENST00000373092,NM_170693.2;SGK2,intron_variant,,ENST00000412111,;SGK2,intron_variant,,ENST00000617268,;SGK2,upstream_gene_variant,,ENST00000485914,;SGK2,intron_variant,,ENST00000496343,;SGK2,intron_variant,,ENST00000373077,;SGK2,intron_variant,,ENST00000617358,;RP1-138B7.6,intron_variant,,ENST00000621802,;	T	ENST00000341458	Transcript	synonymous_variant	571/2498	18/1284	6/427	T	acC/acT		1		1	SGK2	HGNC	HGNC:13900	protein_coding	YES	CCDS13320.1	ENSP00000340608	Q9HBY8		UPI0000033528	NM_016276.3			1/12																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	43566333	43566333	C	T	1	0	0	0	0	0	0	0	1	14468	668	24	3		3	SGK2	20	43566333	Silent	SNP	C	C3N-00547_TP	2151001	43566333	20877834	672	16133											
HNF4A	0	.	GRCh38	chr20	44406163	44406163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacgggcaaacactacggtgCctcgagctgtgacggctgca	9	6	13	13	4	0	1	0	1	0	0	1	2	0	1	1	3	5	4	1	3	2	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.221C>T	p.Ala74Val	p.A74V	ENST00000316099	2/10	262	245	17	288	288	0	strelka-varscan-mutect	HNF4A,missense_variant,p.Ala74Val,ENST00000316099,NM_001258355.1,NM_000457.4;HNF4A,missense_variant,p.Ala49Val,ENST00000619550,NM_001287182.1,NM_001287183.1;HNF4A,missense_variant,p.Ala74Val,ENST00000415691,NM_178849.2;HNF4A,missense_variant,p.Ala74Val,ENST00000443598,NM_178850.2;HNF4A,missense_variant,p.Ala52Val,ENST00000316673,NM_175914.4;HNF4A,missense_variant,p.Ala52Val,ENST00000457232,NM_001030003.2;HNF4A,missense_variant,p.Ala52Val,ENST00000609795,NM_001030004.2,NM_001287184.1;HNF4A,missense_variant,p.Ala49Val,ENST00000609262,;MIR3646,upstream_gene_variant,,ENST00000578301,;HNF4A,synonymous_variant,p.=,ENST00000372920,;	T	ENST00000316099	Transcript	missense_variant	310/6445	221/1425	74/474	A/V	gCc/gTc		1		1	HNF4A	HGNC	HGNC:5024	protein_coding	YES	CCDS13330.1	ENSP00000312987	P41235	F1D8T1	UPI000016A0BA	NM_001258355.1,NM_000457.4	deleterious(0)		2/10		PROSITE_profiles:PS51030,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF41,PROSITE_patterns:PS00031,Pfam_domain:PF00105,Gene3D:3.30.50.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	44406163	44406163	C	T	1	0	0	0	0	1	0	0	0	7144	739	26	3		3	HNF4A	20	44406163	Missense_Mutation	SNP	C	C3N-00547_TP	839830	44406163	20038004	673	16134											
SLC12A5	0	.	GRCh38	chr20	46043895	46043896	+	Frame_Shift_Ins	INS	-	-	T																															acatcagctccgttgttctgINStttggggcctgcattgaggg																								novel		C3N-00547_TP	C3N-00547_NB	-	-																c.1428dupT	p.Gly477TrpfsTer5	p.G477Wfs*5	ENST00000454036	11/26	67	46	21	90	90	0	sindel-varindel-pindel	SLC12A5,frameshift_variant,p.Gly454TrpfsTer5,ENST00000243964,NM_020708.4;SLC12A5,frameshift_variant,p.Gly477TrpfsTer5,ENST00000454036,NM_001134771.1;SLC12A5,3_prime_UTR_variant,,ENST00000616933,;SLC12A5,intron_variant,,ENST00000616201,;SLC12A5,intron_variant,,ENST00000616202,;SLC12A5,intron_variant,,ENST00000626937,;SLC12A5,intron_variant,,ENST00000539566,;SLC12A5,downstream_gene_variant,,ENST00000629054,;SLC12A5,downstream_gene_variant,,ENST00000625683,;SLC12A5,downstream_gene_variant,,ENST00000372315,;SLC12A5,downstream_gene_variant,,ENST00000622711,;SLC12A5,upstream_gene_variant,,ENST00000626144,;SLC12A5,downstream_gene_variant,,ENST00000608594,;	T	ENST00000454036	Transcript	frameshift_variant	1501-1502/3593	1425-1426/3420	475-476/1139	-/X	-/T		1		1	SLC12A5	HGNC	HGNC:13818	protein_coding	YES	CCDS46610.1	ENSP00000387694	Q9H2X9		UPI00015F4605	NM_001134771.1			11/26		hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930,Transmembrane_helices:TMhelix																	HIGH	1	insertion	5	3		1										PASS		.	.												T	7	5	50	46043895	46043895	-	T	1	0	1	1	0	0	0	0	0	14651	1364	48	0		0	SLC12A5	20	46043895	Frame_Shift_Ins	INS	-	C3N-00547_TP	1637732	46043895	18400272	674	16135											
SLC12A5	0	.	GRCh38	chr20	46053690	46053690	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttacgcatcactgcggAggtcgaggtggtggagatgg	8	10	16	7	3	2	1	2	0	0	1	3	4	2	2	0	6	2	1	0	6	1	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.2729A>T	p.Glu910Val	p.E910V	ENST00000454036	20/26	61	38	23	70	70	0	strelka-varscan-mutect	SLC12A5,missense_variant,p.Glu887Val,ENST00000243964,NM_020708.4;SLC12A5,missense_variant,p.Glu910Val,ENST00000454036,NM_001134771.1;SLC12A5,3_prime_UTR_variant,,ENST00000616933,;SLC12A5,intron_variant,,ENST00000616201,;SLC12A5,intron_variant,,ENST00000616202,;SLC12A5,intron_variant,,ENST00000626937,;SLC12A5,upstream_gene_variant,,ENST00000637437,;SLC12A5,downstream_gene_variant,,ENST00000539566,;SLC12A5,upstream_gene_variant,,ENST00000628413,;	T	ENST00000454036	Transcript	missense_variant	2805/3593	2729/3420	910/1139	E/V	gAg/gTg		1		1	SLC12A5	HGNC	HGNC:13818	protein_coding	YES	CCDS46610.1	ENSP00000387694	Q9H2X9		UPI00015F4605	NM_001134771.1	deleterious(0.05)		20/26		hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,Pfam_domain:PF03522,TIGRFAM_domain:TIGR00930																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	50	46053690	46053690	A	T	1	0	0	0	0	1	0	0	0	14651	304	11	4		4	SLC12A5	20	46053690	Missense_Mutation	SNP	A	C3N-00547_TP	9795	46053690	18390477	675	16136											
ARFGEF2	0	.	GRCh38	chr20	48991166	48991166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatcacagtggctcacaccGatggcaactaccttgggaat	11	10	9	11	1	2	0	2	0	0	0	2	2	2	1	2	3	2	2	2	3	4	3	rs765305868		C3N-00547_TP	C3N-00547_NB	G	G																c.2941G>A	p.Asp981Asn	p.D981N	ENST00000371917	21/39	465	413	52	555	554	1	strelka-varscan-mutect	ARFGEF2,missense_variant,p.Asp981Asn,ENST00000371917,NM_006420.2;	A	ENST00000371917	Transcript	missense_variant	2941/8852	2941/5358	981/1785	D/N	Gat/Aat	rs765305868	1		1	ARFGEF2	HGNC	HGNC:15853	protein_coding	YES	CCDS13411.1	ENSP00000360985	Q9Y6D5		UPI000013D378	NM_006420.2	deleterious(0)		21/39		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF124																	MODERATE	1	SNV	1			1										PASS		rs765305868	.												A	3	1	50	48991166	48991166	G	A	1	0	0	0	0	1	0	0	0	976	1058	37	1		1	ARFGEF2	20	48991166	Missense_Mutation	SNP	G	C3N-00547_TP	2937476	48991166	15453001	676	16137											
MC3R	0	.	GRCh38	chr20	56249765	56249765	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggagcctggaattgcgcAacacctttagggagattctc	9	10	11	11	2	1	1	0	0	1	1	3	4	2	3	3	3	3	1	3	3	3	4	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.922A>G	p.Asn308Asp	p.N308D	ENST00000243911	1/1	526	486	40	718	718	0	strelka-varscan-mutect	MC3R,missense_variant,p.Asn308Asp,ENST00000243911,NM_019888.3;	G	ENST00000243911	Transcript	missense_variant	1034/1084	922/972	308/323	N/D	Aac/Gac		1		1	MC3R	HGNC	HGNC:6931	protein_coding	YES	CCDS13449.2	ENSP00000243911	P41968		UPI0000E5A34B	NM_019888.3	tolerated(0.11)		1/1		Gene3D:1.20.1070.10,Prints_domain:PR00534,Prints_domain:PR00535,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF4,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	50	56249765	56249765	A	G	1	0	0	0	0	1	0	0	0	9298	130	5	5		5	MC3R	20	56249765	Missense_Mutation	SNP	A	C3N-00547_TP	7258599	56249765	8194402	677	16138											
CASS4	0	.	GRCh38	chr20	56452906	56452906	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaagacatcaagaggtttgCctccattgtcattgccaatg	12	11	9	9	0	2	3	2	0	0	3	3	3	3	3	3	1	2	1	3	1	3	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1730C>A	p.Ala577Asp	p.A577D	ENST00000360314	6/7	164	94	70	208	208	0	strelka-varscan-mutect	CASS4,missense_variant,p.Ala577Asp,ENST00000360314,NM_001164116.1,NM_020356.3,NM_001164114.1;CASS4,intron_variant,,ENST00000434344,NM_001164115.1;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;	A	ENST00000360314	Transcript	missense_variant	1955/2619	1730/2361	577/786	A/D	gCc/gAc		1		1	CASS4	HGNC	HGNC:15878	protein_coding	YES	CCDS33492.1	ENSP00000353462	Q9NQ75		UPI00001285DB	NM_001164116.1,NM_020356.3,NM_001164114.1	deleterious(0.01)		6/7		hmmpanther:PTHR10654:SF19,hmmpanther:PTHR10654,Pfam_domain:PF08824																	MODERATE	1	SNV	1			1										PASS		rs1284248278	.												A	3	1	50	56452906	56452906	C	A	1	0	0	0	0	1	0	0	0	2382	739	26	2		2	CASS4	20	56452906	Missense_Mutation	SNP	C	C3N-00547_TP	203141	56452906	7991261	678	16139											
RTFDC1	0	.	GRCh38	chr20	56517166	56517166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagccagccttgattctaGagagaagaaaaccaacttgg	16	7	10	8	0	1	5	0	1	1	4	1	6	1	5	3	1	4	0	3	1	6	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.797G>T	p.Arg266Ile	p.R266I	ENST00000023939	9/10	291	250	41	297	297	0	strelka-varscan-mutect	RTFDC1,stop_gained,p.Glu218Ter,ENST00000395881,NM_001283037.1;RTFDC1,missense_variant,p.Arg236Ile,ENST00000357348,NM_016407.4,NM_001283036.1;RTFDC1,missense_variant,p.Arg266Ile,ENST00000023939,NM_001283035.1;RTFDC1,missense_variant,p.Arg266Ile,ENST00000449062,;GCNT7,intron_variant,,ENST00000243913,;FAM209A,upstream_gene_variant,,ENST00000481560,;RTFDC1,non_coding_transcript_exon_variant,,ENST00000477573,;RTFDC1,non_coding_transcript_exon_variant,,ENST00000477485,;	T	ENST00000023939	Transcript	missense_variant	910/1745	797/1011	266/336	R/I	aGa/aTa		1		1	RTFDC1	HGNC	HGNC:15890	protein_coding	YES	CCDS63316.1	ENSP00000023939		A0A0A0MQR2	UPI0001AE65A5	NM_001283035.1	tolerated(0.19)		9/10		hmmpanther:PTHR12775,Pfam_domain:PF04641																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	50	56517166	56517166	G	T	1	0	0	0	0	1	0	0	0	13981	943	33	2		2	RTFDC1	20	56517166	Missense_Mutation	SNP	G	C3N-00547_TP	64260	56517166	7927001	679	16140											
OSBPL2	0	.	GRCh38	chr20	62284071	62284071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagctctttatgatctatGgcaaatggacggaatgtttg	12	13	11	5	1	2	2	0	1	2	1	2	4	2	4	0	3	1	3	0	3	5	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.898G>T	p.Gly300Cys	p.G300C	ENST00000313733	10/14	123	82	41	110	110	0	varscan-mutect	OSBPL2,missense_variant,p.Gly300Cys,ENST00000313733,NM_144498.2;OSBPL2,missense_variant,p.Gly288Cys,ENST00000358053,NM_014835.3;OSBPL2,missense_variant,p.Gly208Cys,ENST00000439951,NM_001278649.1;OSBPL2,downstream_gene_variant,,ENST00000622332,;OSBPL2,downstream_gene_variant,,ENST00000448156,;OSBPL2,downstream_gene_variant,,ENST00000618198,;OSBPL2,non_coding_transcript_exon_variant,,ENST00000621075,;OSBPL2,downstream_gene_variant,,ENST00000620616,;	T	ENST00000313733	Transcript	missense_variant	1139/4009	898/1443	300/480	G/C	Ggc/Tgc		1		1	OSBPL2	HGNC	HGNC:15761	protein_coding	YES	CCDS13495.1	ENSP00000316649	Q9H1P3		UPI0000130E96	NM_144498.2	deleterious(0)		10/14		Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF54																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	62284071	62284071	G	T	1	0	0	0	0	1	0	0	0	11344	1348	47	2		2	OSBPL2	20	62284071	Missense_Mutation	SNP	G	C3N-00547_TP	5766905	62284071	2160096	680	16141											
COL20A1	0	.	GRCh38	chr20	63305521	63305521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatcttcgagctcactGgctctgggcgcttcctgcta	5	12	11	13	2	3	1	1	0	2	1	5	2	4	1	1	2	3	5	1	2	1	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.298G>T	p.Gly100Cys	p.G100C	ENST00000358894	4/36	70	45	25	92	92	0	strelka-varscan-mutect	COL20A1,missense_variant,p.Gly100Cys,ENST00000422202,;COL20A1,missense_variant,p.Gly100Cys,ENST00000358894,NM_020882.2;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;	T	ENST00000358894	Transcript	missense_variant	398/4172	298/3855	100/1284	G/C	Ggc/Tgc		1		1	COL20A1	HGNC	HGNC:14670	protein_coding	YES	CCDS46628.1	ENSP00000351767	Q9P218		UPI000051910D	NM_020882.2	deleterious(0)		4/36		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	63305521	63305521	G	T	1	0	0	0	0	1	0	0	0	3467	1348	47	2		2	COL20A1	20	63305521	Missense_Mutation	SNP	G	C3N-00547_TP	1021450	63305521	1138646	681	16142											
KCNQ2	0	.	GRCh38	chr20	63406845	63406845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccttggactgggagatGctgaagccgctgaaggaacg	9	9	14	9	2	1	3	0	2	1	1	2	6	1	5	2	3	3	2	2	3	3	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2418C>A	p.Ser806Arg	p.S806R	ENST00000359125	17/17	516	454	62	492	492	0	strelka-varscan-mutect	KCNQ2,missense_variant,p.Ser788Arg,ENST00000626839,NM_172106.1;KCNQ2,missense_variant,p.Ser806Arg,ENST00000359125,NM_172107.2;KCNQ2,missense_variant,p.Ser605Arg,ENST00000637193,;KCNQ2,missense_variant,p.Ser778Arg,ENST00000360480,NM_004518.4;KCNQ2,missense_variant,p.Ser775Arg,ENST00000344462,NM_172108.3;KCNQ2,missense_variant,p.Ser662Arg,ENST00000357249,;KCNQ2,intron_variant,,ENST00000370224,;KCNQ2,intron_variant,,ENST00000625514,;KCNQ2,intron_variant,,ENST00000629241,;KCNQ2,intron_variant,,ENST00000629676,;KCNQ2,downstream_gene_variant,,ENST00000636614,;KCNQ2,downstream_gene_variant,,ENST00000637063,;KCNQ2,downstream_gene_variant,,ENST00000637338,;KCNQ2,downstream_gene_variant,,ENST00000637656,;	T	ENST00000359125	Transcript	missense_variant	2545/3253	2418/2619	806/872	S/R	agC/agA		1		-1	KCNQ2	HGNC	HGNC:6296	protein_coding	YES	CCDS13520.1	ENSP00000352035	O43526		UPI00001279ED	NM_172107.2	deleterious(0)		17/17		Pfam_domain:PF11956																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	63406845	63406845	G	T	1	0	0	0	0	1	0	0	0	7999	1310	46	2		2	KCNQ2	20	63406845	Missense_Mutation	SNP	G	C3N-00547_TP	101324	63406845	1037322	682	16143											
KCNQ2	0	.	GRCh38	chr20	63414959	63414959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagcctggcgtgcccggCtgcggtccccgaagctccag	6	5	15	15	4	0	0	0	0	0	0	2	2	2	1	5	4	4	2	5	4	2	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1469G>T	p.Ser490Ile	p.S490I	ENST00000359125	13/17	335	290	45	263	263	0	strelka-varscan-mutect	KCNQ2,missense_variant,p.Ser472Ile,ENST00000626839,NM_172106.1;KCNQ2,missense_variant,p.Ser490Ile,ENST00000359125,NM_172107.2;KCNQ2,missense_variant,p.Ser462Ile,ENST00000370224,;KCNQ2,missense_variant,p.Ser289Ile,ENST00000637193,;KCNQ2,missense_variant,p.Ser450Ile,ENST00000625514,;KCNQ2,missense_variant,p.Ser462Ile,ENST00000629241,;KCNQ2,missense_variant,p.Ser462Ile,ENST00000360480,NM_004518.4;KCNQ2,missense_variant,p.Ser460Ile,ENST00000344462,NM_172108.3;KCNQ2,missense_variant,p.Ser346Ile,ENST00000357249,;KCNQ2,missense_variant,p.Ser462Ile,ENST00000629676,;KCNQ2,missense_variant,p.Ser177Ile,ENST00000627221,;KCNQ2,missense_variant,p.Ser26Ile,ENST00000629318,;KCNQ2,upstream_gene_variant,,ENST00000636614,;KCNQ2,downstream_gene_variant,,ENST00000635867,;KCNQ2,upstream_gene_variant,,ENST00000636499,;KCNQ2,downstream_gene_variant,,ENST00000637584,;	A	ENST00000359125	Transcript	missense_variant	1596/3253	1469/2619	490/872	S/I	aGc/aTc		1		-1	KCNQ2	HGNC	HGNC:6296	protein_coding	YES	CCDS13520.1	ENSP00000352035	O43526		UPI00001279ED	NM_172107.2	deleterious(0.01)		13/17		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF6,Pfam_domain:PF03520																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	63414959	63414959	C	A	1	0	0	0	0	1	0	0	0	7999	797	28	2		2	KCNQ2	20	63414959	Missense_Mutation	SNP	C	C3N-00547_TP	8114	63414959	1029208	683	16144											
GMEB2	0	.	GRCh38	chr20	63592649	63592649	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggcgtccttcagccccCgccagaaggtaaatgtgtca	8	7	12	14	3	2	1	2	0	0	1	3	1	3	1	5	3	1	1	5	3	3	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.713G>T	p.Arg238Leu	p.R238L	ENST00000266068	7/9	113	71	42	236	236	0	strelka-varscan-mutect	GMEB2,missense_variant,p.Arg238Leu,ENST00000266068,;GMEB2,missense_variant,p.Arg238Leu,ENST00000370077,NM_012384.3;GMEB2,missense_variant,p.Arg187Leu,ENST00000370069,;	A	ENST00000266068	Transcript	missense_variant	1192/4559	713/1593	238/530	R/L	cGg/cTg		1		-1	GMEB2	HGNC	HGNC:4371	protein_coding	YES	CCDS13528.1	ENSP00000266068	Q9UKD1		UPI000012B8AD		deleterious(0.01)		7/9		hmmpanther:PTHR10417:SF2,hmmpanther:PTHR10417																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	63592649	63592649	C	A	1	0	0	0	0	1	0	0	0	6367	652	23	1		1	GMEB2	20	63592649	Missense_Mutation	SNP	C	C3N-00547_TP	177690	63592649	851518	684	16145											
KCNE1B	0	.	GRCh38	chr21	7819402	7819402	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgttgaatgggtcgttcGagtgctccagcttcttggag	7	12	14	8	3	1	2	0	1	1	1	4	4	2	3	1	2	2	4	1	2	1	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.230C>A	p.Ser77Ter	p.S77*	ENST00000623803	3/3	15	8	7	19	19	0	strelka-varscan-mutect	KCNE1B,stop_gained,p.Ser77Ter,ENST00000618699,;KCNE1B,stop_gained,p.Ser74Ter,ENST00000622690,;KCNE1B,stop_gained,p.Ser77Ter,ENST00000623803,;KCNE1B,stop_gained,p.Ser77Ter,ENST00000617668,;	T	ENST00000623803	Transcript	stop_gained	453/811	230/399	77/132	S/*	tCg/tAg		1		-1	KCNE1B	HGNC	HGNC:52280	protein_coding	YES		ENSP00000485125	A0A087WTH5		UPI0003EAFC6E				3/3		Pfam_domain:PF02060,hmmpanther:PTHR15282,hmmpanther:PTHR15282:SF10																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	50	7819402	7819402	G	T	1	0	0	0	0	0	1	0	0	7938	1059	37	1		1	KCNE1B	21	7819402	Nonsense_Mutation	SNP	G	C3N-00547_TP		7819402	38890581	685	16146											
ADAMTS5	0	.	GRCh38	chr21	26954802	26954802	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatcacagcacagctgcGctctggagaacatatggtcc	11	9	9	12	1	3	1	2	0	1	1	4	2	4	1	1	2	4	3	1	2	3	2	rs202109841		C3N-00547_TP	C3N-00547_NB	G	G																c.1174C>G	p.Arg392Gly	p.R392G	ENST00000284987	2/8	224	181	43	290	290	0	strelka-varscan-mutect	ADAMTS5,missense_variant,p.Arg392Gly,ENST00000284987,NM_007038.3;MIR4759,downstream_gene_variant,,ENST00000584048,;	C	ENST00000284987	Transcript	missense_variant	1296/9056	1174/2793	392/930	R/G	Cgc/Ggc	rs202109841,COSM1029708	1		-1	ADAMTS5	HGNC	HGNC:221	protein_coding	YES	CCDS13579.1	ENSP00000284987	Q9UNA0		UPI00001AEAC2	NM_007038.3	deleterious(0)		2/8		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF37,Superfamily_domains:SSF55486											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs202109841	.												C	3	2	50	26954802	26954802	G	C	1	0	0	0	0	1	0	0	0	313	1087	38	4		4	ADAMTS5	21	26954802	Missense_Mutation	SNP	G	C3N-00547_TP	19135400	26954802	19755181	686	16147											
GRIK1	0	.	GRCh38	chr21	29587435	29587435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacatccaaatatctggaGacagggggttgaggaaggag	14	7	14	6	0	1	2	0	1	1	1	2	5	2	4	1	5	1	1	1	5	4	3	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1724C>A	p.Ser575Tyr	p.S575Y	ENST00000399907	12/17	279	213	66	351	351	0	strelka-varscan-mutect	GRIK1,missense_variant,p.Ser560Tyr,ENST00000399914,;GRIK1,missense_variant,p.Ser575Tyr,ENST00000399907,NM_000830.3;GRIK1,missense_variant,p.Ser560Tyr,ENST00000399909,;GRIK1,missense_variant,p.Ser575Tyr,ENST00000399913,;GRIK1,missense_variant,p.Ser575Tyr,ENST00000327783,;GRIK1,missense_variant,p.Ser560Tyr,ENST00000389125,NM_175611.2;GRIK1,missense_variant,p.Ser575Tyr,ENST00000389124,;BACH1,intron_variant,,ENST00000422809,;BACH1,intron_variant,,ENST00000468059,;	T	ENST00000399907	Transcript	missense_variant	2136/3472	1724/2757	575/918	S/Y	tCt/tAt		1		-1	GRIK1	HGNC	HGNC:4579	protein_coding	YES	CCDS42913.1	ENSP00000382791	P39086		UPI000012B612	NM_000830.3	deleterious(0)		12/17		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36,Gene3D:1.10.287.70,SMART_domains:SM00079																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	29587435	29587435	G	T	1	0	0	0	0	1	0	0	0	6655	942	33	2		2	GRIK1	21	29587435	Missense_Mutation	SNP	G	C3N-00547_TP	2632633	29587435	17122548	687	16148											
CLDN17	0	.	GRCh38	chr21	30166061	30166061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttctttctgttgcagcagCaaaatccacaaagcagaccc	12	9	7	13	0	2	1	0	0	2	1	3	1	3	1	2	0	4	6	2	0	3	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.557G>T	p.Cys186Phe	p.C186F	ENST00000286808	1/1	348	280	68	427	426	1	strelka-varscan-mutect	CLDN17,missense_variant,p.Cys186Phe,ENST00000286808,NM_012131.2;	A	ENST00000286808	Transcript	missense_variant	696/1193	557/675	186/224	C/F	tGc/tTc		1		-1	CLDN17	HGNC	HGNC:2038	protein_coding	YES	CCDS13586.1	ENSP00000286808	P56750		UPI000004E655	NM_012131.2	tolerated(0.51)		1/1		hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF75,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	50	30166061	30166061	C	A	1	0	0	0	0	1	0	0	0	3242	710	25	2		2	CLDN17	21	30166061	Missense_Mutation	SNP	C	C3N-00547_TP	578626	30166061	16543922	688	16149											
KRTAP19-1	0	.	GRCh38	chr21	30480130	30480130	+	Missense_Mutation	SNP	C	C	A																															ctccaaagccagagccatatCcgtagcctccaaagccagag																								novel		C3N-00547_TP	C3N-00547_NB	C	C																c.188G>T	p.Gly63Val	p.G63V	ENST00000390689	1/1	475	395	80	524	523	1	strelka-varscan-mutect	KRTAP19-1,missense_variant,p.Gly63Val,ENST00000390689,NM_181607.1;	A	ENST00000390689	Transcript	missense_variant	215/646	188/273	63/90	G/V	gGa/gTa		1		-1	KRTAP19-1	HGNC	HGNC:18936	protein_coding	YES	CCDS13594.1	ENSP00000375108	Q8IUB9		UPI00001A9E54	NM_181607.1	tolerated_low_confidence(0.43)		1/1		Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		rs1462207071	.												A	3	1	50	30480130	30480130	C	A	1	0	0	0	0	1	0	0	0	8412	855	30	2		2	KRTAP19-1	21	30480130	Missense_Mutation	SNP	C	C3N-00547_TP	314069	30480130	16229853	689	16150	348	2									
KRTAP19-1	0	.	GRCh38	chr21	30480131	30480131	+	Nonsense_Mutation	SNP	C	C	A																															tccaaagccagagccatatcCgtagcctccaaagccagagc																								rs34407570		C3N-00547_TP	C3N-00547_NB	C	C																c.187G>T	p.Gly63Ter	p.G63*	ENST00000390689	1/1	481	398	83	530	530	0	strelka-varscan-mutect	KRTAP19-1,stop_gained,p.Gly63Ter,ENST00000390689,NM_181607.1;	A	ENST00000390689	Transcript	stop_gained	214/646	187/273	63/90	G/*	Gga/Tga	rs34407570	1		-1	KRTAP19-1	HGNC	HGNC:18936	protein_coding	YES	CCDS13594.1	ENSP00000375108	Q8IUB9		UPI00001A9E54	NM_181607.1			1/1		Low_complexity_(Seg):seg																	HIGH	1	SNV				1										PASS		rs34407570	.												A	4	1	50	30480131	30480131	C	A	1	0	0	0	0	0	1	0	0	8412	661	23	1		1	KRTAP19-1	21	30480131	Nonsense_Mutation	SNP	C	C3N-00547_TP	1	30480131	16229852	690	16151	348	2									
KRTAP21-2	0	.	GRCh38	chr21	30747048	30747048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccacagccagagccgtatCcacagccatagccacagcca	13	4	7	17	1	0	1	0	0	0	1	2	1	2	1	7	0	5	1	7	0	2	2			C3N-00547_TP	C3N-00547_NB	C	C																c.155G>T	p.Gly52Val	p.G52V	ENST00000333892	1/1	244	175	69	280	279	1	strelka-mutect	KRTAP21-2,missense_variant,p.Gly52Val,ENST00000333892,NM_181617.1;KRTAP21-4P,upstream_gene_variant,,ENST00000454921,;	A	ENST00000333892	Transcript	missense_variant	186/440	155/252	52/83	G/V	gGa/gTa	COSM3550190	1		-1	KRTAP21-2	HGNC	HGNC:18946	protein_coding	YES	CCDS13605.1	ENSP00000334287	Q3LI59		UPI00001A9E4D	NM_181617.1	deleterious_low_confidence(0)		1/1		Pfam_domain:PF11759,Low_complexity_(Seg):seg											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	50	30747048	30747048	C	A	1	0	0	0	0	1	0	0	0	8428	855	30	2		2	KRTAP21-2	21	30747048	Missense_Mutation	SNP	C	C3N-00547_TP	266917	30747048	15962935	691	16152											
KRTAP8-1	0	.	GRCh38	chr21	30813199	30813199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctgggaagacagcccCggggaagttgtcgcagagca	10	5	15	11	2	0	2	0	0	0	2	2	4	1	4	3	3	2	4	3	3	2	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.22G>T	p.Gly8Trp	p.G8W	ENST00000329621	1/1	103	76	27	150	150	0	strelka-varscan-mutect	KRTAP8-1,missense_variant,p.Gly8Trp,ENST00000329621,NM_175857.3;	A	ENST00000329621	Transcript	missense_variant	54/556	22/192	8/63	G/W	Ggg/Tgg		1		-1	KRTAP8-1	HGNC	HGNC:18935	protein_coding	YES	CCDS13607.1	ENSP00000332805	Q8IUC2		UPI00000747A5	NM_175857.3	deleterious_low_confidence(0.01)		1/1		hmmpanther:PTHR36131,Pfam_domain:PF11759,PD027172																	MODERATE	1	SNV				1										PASS		rs1157284010	.												A	3	1	50	30813199	30813199	C	A	1	0	0	0	0	1	0	0	0	8468	652	23	1		1	KRTAP8-1	21	30813199	Missense_Mutation	SNP	C	C3N-00547_TP	66151	30813199	15896784	692	16153											
IFNAR1	0	.	GRCh38	chr21	33353689	33353689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttgtattgcattatttgCtctcccgtttgtcatttatg	7	21	6	7	1	2	0	1	0	1	0	3	0	2	0	1	0	2	4	1	0	4	8	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1346C>T	p.Ala449Val	p.A449V	ENST00000270139	10/11	92	74	18	125	125	0	strelka-varscan-mutect	IFNAR1,missense_variant,p.Ala449Val,ENST00000270139,NM_000629.2;	T	ENST00000270139	Transcript	missense_variant	1498/6139	1346/1674	449/557	A/V	gCt/gTt		1		1	IFNAR1	HGNC	HGNC:5432	protein_coding	YES	CCDS13624.1	ENSP00000270139	P17181		UPI000006FE3C	NM_000629.2	tolerated(0.6)		10/11		Transmembrane_helices:TMhelix,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF54,PIRSF_domain:PIRSF016567																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	33353689	33353689	C	T	1	0	0	0	0	1	0	0	0	7444	797	28	3		3	IFNAR1	21	33353689	Missense_Mutation	SNP	C	C3N-00547_TP	2540490	33353689	13356294	693	16154											
KCNE1	0	.	GRCh38	chr21	34449414	34449414	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgttgaatgggtcgttcGagtgctccagcttcttggag	7	12	14	8	3	1	2	0	1	1	1	4	4	2	3	1	2	2	4	1	2	1	4	rs74315446		C3N-00547_TP	C3N-00547_NB	G	G																c.221C>A	p.Ser74Ter	p.S74*	ENST00000337385	3/3	189	138	51	250	249	1	strelka-varscan-mutect	KCNE1,stop_gained,p.Ser74Ter,ENST00000337385,NM_001270402.2,NM_001270403.2;KCNE1,stop_gained,p.Ser74Ter,ENST00000611936,NM_001270404.2;KCNE1,stop_gained,p.Ser74Ter,ENST00000432085,NM_001127668.3;KCNE1,stop_gained,p.Ser74Ter,ENST00000399289,NM_001127669.3;KCNE1,stop_gained,p.Ser74Ter,ENST00000621601,NM_001270405.2;KCNE1,stop_gained,p.Ser74Ter,ENST00000399286,NM_000219.5;KCNE1,stop_gained,p.Ser74Ter,ENST00000416357,NM_001127670.3;KCNE1,stop_gained,p.Ser74Ter,ENST00000399284,;	T	ENST00000337385	Transcript	stop_gained	621/3347	221/390	74/129	S/*	tCg/tAg	rs74315446,CM970799,LQTS_4557686:c.221C>T	1		-1	KCNE1	HGNC	HGNC:6240	protein_coding	YES	CCDS13636.1	ENSP00000337255	P15382	C7S316	UPI000012F141	NM_001270402.2,NM_001270403.2			3/3		Pfam_domain:PF02060,hmmpanther:PTHR15282,hmmpanther:PTHR15282:SF10										pathogenic		1.50516369354802e+22					HIGH	1	SNV	3		1,1,0	1										PASS		rs74315446	.												T	4	4	50	34449414	34449414	G	T	1	0	0	0	0	0	1	0	0	7937	1059	37	1		1	KCNE1	21	34449414	Nonsense_Mutation	SNP	G	C3N-00547_TP	1095725	34449414	12260569	694	16155											
DIP2A	0	.	GRCh38	chr21	46549914	46549914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggcacggcctatggttcGgtgaatctcccaagctggca	7	8	12	14	3	1	1	0	1	1	0	3	1	1	1	3	5	1	4	3	5	3	2	rs201345375		C3N-00547_TP	C3N-00547_NB	G	G																c.2666G>T	p.Arg889Leu	p.R889L	ENST00000457905	22/22	82	49	33	124	124	0	strelka-varscan-mutect	DIP2A,missense_variant,p.Arg889Leu,ENST00000457905,NM_206889.2;DIP2A,intron_variant,,ENST00000400274,NM_001146116.1;DIP2A,intron_variant,,ENST00000417564,NM_015151.3;DIP2A,downstream_gene_variant,,ENST00000435722,NM_206891.2,NM_206890.2;DIP2A,downstream_gene_variant,,ENST00000466639,NM_001146115.1;DIP2A,downstream_gene_variant,,ENST00000473752,;DIP2A,upstream_gene_variant,,ENST00000472364,;DIP2A,downstream_gene_variant,,ENST00000494435,;DIP2A,downstream_gene_variant,,ENST00000480553,;	T	ENST00000457905	Transcript	missense_variant	2848/3044	2666/2670	889/889	R/L	cGg/cTg	rs201345375	1		1	DIP2A	HGNC	HGNC:17217	protein_coding		CCDS46656.1	ENSP00000393434	Q14689		UPI000007466D	NM_206889.2	deleterious_low_confidence(0)		22/22																			MODERATE		SNV	1			1										PASS		rs201345375	.												T	3	4	50	46549914	46549914	G	T	1	0	0	0	0	1	0	0	0	4332	1116	39	1		1	DIP2A	21	46549914	Missense_Mutation	SNP	G	C3N-00547_TP	12100500	46549914	160069	695	16156											
CECR6	0	.	GRCh38	chr22	17119439	17119439	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgacatagccatgagcaccCccctcgttctccgagatgca	9	9	8	15	2	1	3	0	2	1	1	3	4	1	3	5	0	3	3	5	0	1	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1689G>T	p.=	p.G563G	ENST00000331437	1/1	240	208	32	554	554	0	strelka-varscan-mutect	CECR6,synonymous_variant,p.=,ENST00000331437,NM_031890.3;CECR6,synonymous_variant,p.=,ENST00000399875,NM_001163079.1;IL17RA,downstream_gene_variant,,ENST00000319363,NM_014339.6;IL17RA,downstream_gene_variant,,ENST00000612619,NM_001289905.1;AC006946.15,upstream_gene_variant,,ENST00000441544,;AC006946.15,upstream_gene_variant,,ENST00000428078,;	A	ENST00000331437	Transcript	synonymous_variant	1815/4954	1689/1737	563/578	G	ggG/ggT		1		-1	CECR6	HGNC	HGNC:1844	protein_coding	YES	CCDS13740.1	ENSP00000329318	Q9BXQ6		UPI0000127513	NM_031890.3			1/1		hmmpanther:PTHR22146,hmmpanther:PTHR22146:SF1																	LOW		SNV				1										PASS		rs1162430765	.												A	2	1	50	17119439	17119439	C	A	1	0	0	0	0	0	0	0	1	2915	610	22	2		2	CECR6	22	17119439	Silent	SNP	C	C3N-00547_TP		17119439	33699029	696	16157											
CECR1	0	.	GRCh38	chr22	17181491	17181491	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctagcttctcctcactttgTagccacatctgctatgaact	8	14	6	13	0	3	1	1	1	2	0	4	1	3	1	2	0	4	4	2	0	4	5	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.1528A>G	p.Thr510Ala	p.T510A	ENST00000399837	10/10	131	117	14	155	155	0	strelka-varscan-mutect	CECR1,missense_variant,p.Thr510Ala,ENST00000399837,NM_001282226.1,NM_001282225.1;CECR1,missense_variant,p.Thr468Ala,ENST00000449907,NM_001282228.1,NM_001282227.1;CECR1,missense_variant,p.Thr390Ala,ENST00000610390,NM_001282229.1;CECR1,missense_variant,p.Thr510Ala,ENST00000399839,;CECR1,missense_variant,p.Thr510Ala,ENST00000262607,;CECR1,missense_variant,p.Thr269Ala,ENST00000330232,NM_177405.2;CECR1,downstream_gene_variant,,ENST00000469063,;	C	ENST00000399837	Transcript	missense_variant	1804/4505	1528/1536	510/511	T/A	Aca/Gca		1		-1	CECR1	HGNC	HGNC:1839	protein_coding	YES	CCDS13742.1	ENSP00000382731	Q9NZK5		UPI000013D2E8	NM_001282226.1,NM_001282225.1	tolerated(0.48)		10/10		hmmpanther:PTHR11409,hmmpanther:PTHR11409:SF39																	MODERATE	1	SNV	1			1										PASS		rs1259827703	.												C	3	2	50	17181491	17181491	T	C	1	0	0	0	0	1	0	0	0	2912	1638	57	5		5	CECR1	22	17181491	Missense_Mutation	SNP	T	C3N-00547_TP	62052	17181491	33636977	697	16158											
DGCR2	0	.	GRCh38	chr22	19041218	19041218	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcgtcagaaagatgcagCggcgtgaggcccgtgccaaa	10	5	14	12	5	1	3	1	1	0	2	2	3	1	3	3	2	3	1	3	2	2	0	rs780473059		C3N-00547_TP	C3N-00547_NB	C	C																c.1236G>C	p.=	p.P412P	ENST00000263196	9/10	212	160	52	260	260	0	strelka-varscan-mutect	DGCR2,synonymous_variant,p.=,ENST00000545799,;DGCR2,synonymous_variant,p.=,ENST00000263196,NM_005137.2,NM_001184781.1;DGCR2,synonymous_variant,p.=,ENST00000537045,NM_001173534.1,NM_001173533.1;DGCR11,downstream_gene_variant,,ENST00000609958,;Y_RNA,upstream_gene_variant,,ENST00000384012,;DGCR2,synonymous_variant,p.=,ENST00000389262,;DGCR2,non_coding_transcript_exon_variant,,ENST00000467659,;	G	ENST00000263196	Transcript	synonymous_variant	1484/4480	1236/1653	412/550	P	ccG/ccC	rs780473059	1		-1	DGCR2	HGNC	HGNC:2845	protein_coding	YES	CCDS33598.1	ENSP00000263196	P98153		UPI0000001613	NM_005137.2,NM_001184781.1			9/10		hmmpanther:PTHR15256																	LOW	1	SNV	1			1										PASS		rs780473059	.												G	2	3	50	19041218	19041218	C	G	1	0	0	0	0	0	0	0	1	4268	755	27	4		4	DGCR2	22	19041218	Silent	SNP	C	C3N-00547_TP	1859727	19041218	31777250	698	16159											
MYO18B	0	.	GRCh38	chr22	25847514	25847514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtggaaagcaggagtGggcaggaatctccaccacca	11	6	14	10	0	1	0	0	0	1	0	2	3	1	3	3	5	1	2	3	5	2	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.3637G>C	p.Gly1213Arg	p.G1213R	ENST00000335473	20/44	279	217	62	378	378	0	strelka-varscan-mutect	MYO18B,missense_variant,p.Gly1213Arg,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,missense_variant,p.Gly1214Arg,ENST00000407587,;MYO18B,missense_variant,p.Gly1213Arg,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	C	ENST00000335473	Transcript	missense_variant	3887/8565	3637/7704	1213/2567	G/R	Ggg/Cgg		1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5	tolerated(0.07)		20/44		PROSITE_profiles:PS51456,Low_complexity_(Seg):seg,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	25847514	25847514	G	C	1	0	0	0	0	1	0	0	0	10067	1348	47	4		4	MYO18B	22	25847514	Missense_Mutation	SNP	G	C3N-00547_TP	6806296	25847514	24970954	699	16160											
MYO18B	0	.	GRCh38	chr22	25946221	25946221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagagcatgcacagcgagCtggagaacatgacgcggaac	13	4	15	9	3	0	3	0	1	0	2	0	7	0	4	0	3	6	3	0	3	2	0	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.5602C>A	p.Leu1868Met	p.L1868M	ENST00000335473	35/44	106	90	16	148	147	1	strelka-varscan-mutect	MYO18B,missense_variant,p.Leu1868Met,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,missense_variant,p.Leu1869Met,ENST00000407587,;MYO18B,missense_variant,p.Leu1868Met,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	A	ENST00000335473	Transcript	missense_variant	5852/8565	5602/7704	1868/2567	L/M	Ctg/Atg		1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5	tolerated(0.17)		35/44		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF372																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	25946221	25946221	C	A	1	0	0	0	0	1	0	0	0	10067	796	28	2		2	MYO18B	22	25946221	Missense_Mutation	SNP	C	C3N-00547_TP	98707	25946221	24872247	700	16161											
MN1	0	.	GRCh38	chr22	27799761	27799761	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggaacctggcgaccCgctgcataatgaggcagctg	9	5	12	15	2	0	1	0	1	0	0	0	3	0	2	4	3	3	4	4	3	2	1	rs376859079		C3N-00547_TP	C3N-00547_NB	C	C																c.783G>A	p.=	p.A261A	ENST00000302326	1/2	82	66	16	102	101	1	strelka-varscan-mutect	MN1,synonymous_variant,p.=,ENST00000302326,NM_002430.2;MN1,upstream_gene_variant,,ENST00000424656,;	T	ENST00000302326	Transcript	synonymous_variant	1738/7556	783/3963	261/1320	A	gcG/gcA	rs376859079	1		-1	MN1	HGNC	HGNC:7180	protein_coding	YES	CCDS42998.1	ENSP00000304956	Q10571	A0A024R1C3	UPI0000207445	NM_002430.2			1/2		hmmpanther:PTHR15821																	LOW	1	SNV	1			1										PASS		rs376859079	.												T	2	4	50	27799761	27799761	C	T	1	0	0	0	0	0	0	0	1	9637	639	23	1		1	MN1	22	27799761	Silent	SNP	C	C3N-00547_TP	1853540	27799761	23018707	701	16162											
APOL4	0	.	GRCh38	chr22	36191452	36191452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcaaaagaaagcacattggGtgtgatgtcacgcagaatgt	14	9	12	6	1	1	3	1	1	0	2	1	3	1	3	0	1	2	3	0	1	4	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.679C>A	p.Pro227Thr	p.P227T	ENST00000352371	5/5	322	246	76	355	355	0	strelka-varscan-mutect	APOL4,missense_variant,p.Pro224Thr,ENST00000616056,NM_030643.4;APOL4,missense_variant,p.Pro227Thr,ENST00000352371,NM_145660.2;APOL4,missense_variant,p.Pro224Thr,ENST00000332987,;APOL4,downstream_gene_variant,,ENST00000419360,;APOL4,downstream_gene_variant,,ENST00000457630,;APOL4,non_coding_transcript_exon_variant,,ENST00000613247,;APOL4,non_coding_transcript_exon_variant,,ENST00000449084,;APOL4,downstream_gene_variant,,ENST00000493203,;	T	ENST00000352371	Transcript	missense_variant	904/3227	679/1056	227/351	P/T	Ccc/Acc		1		-1	APOL4	HGNC	HGNC:14867	protein_coding	YES	CCDS74852.1	ENSP00000338260	Q9BPW4		UPI0000125C98	NM_145660.2	deleterious(0.02)		5/5		Pfam_domain:PF05461,hmmpanther:PTHR14096,hmmpanther:PTHR14096:SF39																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	36191452	36191452	G	T	1	0	0	0	0	1	0	0	0	930	1261	44	2		2	APOL4	22	36191452	Missense_Mutation	SNP	G	C3N-00547_TP	8391691	36191452	14627016	702	16163											
RAC2	0	.	GRCh38	chr22	37232858	37232858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcctgcccagcagtgtcCcacagccccaggttcactgg	6	8	9	18	0	1	0	1	0	0	0	4	0	4	0	6	2	3	2	6	2	0	1			C3N-00547_TP	C3N-00547_NB	C	C																c.168G>T	p.Trp56Cys	p.W56C	ENST00000249071	3/7	402	316	86	481	480	1	strelka-varscan-mutect	RAC2,missense_variant,p.Trp56Cys,ENST00000249071,NM_002872.4;RAC2,missense_variant,p.Trp12Cys,ENST00000406508,;RAC2,missense_variant,p.Trp49Cys,ENST00000405484,;RAC2,missense_variant,p.Trp56Cys,ENST00000441619,;RAC2,non_coding_transcript_exon_variant,,ENST00000469532,;RAC2,upstream_gene_variant,,ENST00000481215,;	A	ENST00000249071	Transcript	missense_variant	290/1482	168/579	56/192	W/C	tgG/tgT	RAC2base_D0070:g.12413G>A,COSM5449669	1		-1	RAC2	HGNC	HGNC:9802	protein_coding	YES	CCDS13945.1	ENSP00000249071	P15153	A0A024R1P2	UPI00001110AB	NM_002872.4	deleterious_low_confidence(0)		3/7		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF169,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	50	37232858	37232858	C	A	1	0	0	0	0	1	0	0	0	13134	624	22	2		2	RAC2	22	37232858	Missense_Mutation	SNP	C	C3N-00547_TP	1041406	37232858	13585610	703	16164											
CYTH4	0	.	GRCh38	chr22	37299298	37299298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaacctcaacctcgtccaGgccctcaggtgagtagtcct	8	8	9	16	1	2	1	2	1	0	0	5	1	4	1	6	2	2	1	6	2	3	1	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.426G>T	p.Gln142His	p.Q142H	ENST00000248901	6/13	228	182	46	265	264	1	strelka-varscan-mutect	CYTH4,missense_variant,p.Gln142His,ENST00000248901,NM_001318024.1,NM_013385.3;CYTH4,missense_variant,p.Gln142His,ENST00000405206,;CYTH4,missense_variant,p.Gln142His,ENST00000402997,;CYTH4,downstream_gene_variant,,ENST00000457992,;CYTH4,non_coding_transcript_exon_variant,,ENST00000439667,;CYTH4,upstream_gene_variant,,ENST00000447919,;CYTH4,non_coding_transcript_exon_variant,,ENST00000462927,;CYTH4,downstream_gene_variant,,ENST00000469886,;CYTH4,downstream_gene_variant,,ENST00000480510,;CYTH4,downstream_gene_variant,,ENST00000467664,;	T	ENST00000248901	Transcript	missense_variant	613/3206	426/1185	142/394	Q/H	caG/caT		1		1	CYTH4	HGNC	HGNC:9505	protein_coding	YES	CCDS13946.1	ENSP00000248901	Q9UIA0		UPI000000D99D	NM_001318024.1,NM_013385.3	deleterious(0)		6/13		PROSITE_profiles:PS50190,hmmpanther:PTHR10663,Gene3D:1.10.1000.11,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	37299298	37299298	G	T	1	0	0	0	0	1	0	0	0	4011	991	35	2		2	CYTH4	22	37299298	Missense_Mutation	SNP	G	C3N-00547_TP	66440	37299298	13519170	704	16165											
CACNA1I	0	.	GRCh38	chr22	39662250	39662250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctgtccctcgacaacaggGactcggtggacctggccgag	7	6	14	14	4	0	0	0	0	0	0	3	4	1	2	3	4	1	1	3	4	1	0	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.3187G>T	p.Asp1063Tyr	p.D1063Y	ENST00000402142	17/37	145	110	35	233	233	0	strelka-varscan-mutect	CACNA1I,missense_variant,p.Asp1063Tyr,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Asp1028Tyr,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Asp1063Tyr,ENST00000401624,;CACNA1I,missense_variant,p.Asp1028Tyr,ENST00000407673,;	T	ENST00000402142	Transcript	missense_variant	3187/10004	3187/6672	1063/2223	D/Y	Gac/Tac		1		1	CACNA1I	HGNC	HGNC:1396	protein_coding	YES	CCDS46710.1	ENSP00000385019	Q9P0X4		UPI000012727D	NM_021096.3	tolerated(0.08)		17/37																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	39662250	39662250	G	T	1	0	0	0	0	1	0	0	0	2234	1174	41	2		2	CACNA1I	22	39662250	Missense_Mutation	SNP	G	C3N-00547_TP	2362952	39662250	11156218	705	16166											
MEI1	0	.	GRCh38	chr22	41718071	41718071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttggttgttttctggacagGcaacctgatggagcatctgt	7	14	12	8	0	2	1	0	1	2	0	2	3	2	3	1	4	2	4	1	4	1	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.530G>T	p.Gly177Val	p.G177V	ENST00000401548	6/31	60	50	10	49	49	0	strelka-varscan-mutect	MEI1,missense_variant,p.Gly177Val,ENST00000401548,NM_152513.3;MEI1,splice_region_variant,,ENST00000540833,;RNU6ATAC22P,downstream_gene_variant,,ENST00000516794,;	T	ENST00000401548	Transcript	missense_variant,splice_region_variant	570/4020	530/3825	177/1274	G/V	gGc/gTc		1		1	MEI1	HGNC	HGNC:28613	protein_coding	YES	CCDS46718.1	ENSP00000384115	Q5TIA1		UPI00006E232C	NM_152513.3	tolerated(0.59)		6/31		hmmpanther:PTHR12044,hmmpanther:PTHR12044:SF10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	50	41718071	41718071	G	T	1	0	0	0	0	1	0	0	0	9405	1217	42	2		2	MEI1	22	41718071	Missense_Mutation	SNP	G	C3N-00547_TP	2055821	41718071	9100397	706	16167											
SAMM50	0	.	GRCh38	chr22	43989233	43989233	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacttctttctcaacgcaGgaaacctctgcaacctcaac	12	9	4	16	1	4	0	2	0	3	0	5	1	4	1	2	1	5	2	2	1	4	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.1198G>C	p.Gly400Arg	p.G400R	ENST00000350028	13/15	139	110	29	150	150	0	strelka-varscan-mutect	SAMM50,missense_variant,p.Gly400Arg,ENST00000350028,NM_015380.4;SAMM50,upstream_gene_variant,,ENST00000465768,;SAMM50,non_coding_transcript_exon_variant,,ENST00000494795,;SAMM50,non_coding_transcript_exon_variant,,ENST00000474323,;	C	ENST00000350028	Transcript	missense_variant	1355/1717	1198/1410	400/469	G/R	Gga/Cga		1		1	SAMM50	HGNC	HGNC:24276	protein_coding	YES	CCDS14055.1	ENSP00000345445	Q9Y512		UPI000016A33D	NM_015380.4	deleterious(0)		13/15		Gene3D:2qdzA01,Pfam_domain:PF01103,hmmpanther:PTHR12815,hmmpanther:PTHR12815:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	50	43989233	43989233	G	C	1	0	0	0	0	1	0	0	0	14089	1001	35	4		4	SAMM50	22	43989233	Missense_Mutation	SNP	G	C3N-00547_TP	2271162	43989233	6829235	707	16168											
PHF21B	0	.	GRCh38	chr22	44893510	44893510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtgcttcttctcttccGctcctgtcgcttgctctgga	1	16	10	14	2	3	0	0	0	3	0	7	1	5	1	2	2	2	5	2	2	0	4			C3N-00547_TP	C3N-00547_NB	G	G																c.907C>T	p.Arg303Trp	p.R303W	ENST00000313237	7/13	151	143	8	164	164	0	strelka-varscan-mutect	PHF21B,missense_variant,p.Arg303Trp,ENST00000313237,NM_138415.4;PHF21B,missense_variant,p.Arg99Trp,ENST00000403565,NM_001284296.1;PHF21B,missense_variant,p.Arg249Trp,ENST00000396103,NM_001242450.1;PHF21B,missense_variant,p.Arg261Trp,ENST00000629843,NM_001135862.2;PHF21B,missense_variant,p.Arg99Trp,ENST00000414269,;	A	ENST00000313237	Transcript	missense_variant	1058/3671	907/1596	303/531	R/W	Cgg/Tgg	COSM1220376	1		-1	PHF21B	HGNC	HGNC:25161	protein_coding	YES	CCDS14061.1	ENSP00000324403	Q96EK2	A0A0S2Z6R3	UPI0000072111	NM_138415.4	deleterious(0)		7/13		hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF18											1						MODERATE	1	SNV	1		1	1										PASS		rs1448839516	.												A	3	1	50	44893510	44893510	G	A	1	0	0	0	0	1	0	0	0	11920	1086	38	1		1	PHF21B	22	44893510	Missense_Mutation	SNP	G	C3N-00547_TP	904277	44893510	5924958	708	16169											
PKDREJ	0	.	GRCh38	chr22	46259714	46259714	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atttcatccctgtataaagcCcaaaaagctaggcccacgta	14	9	6	12	1	1	0	1	0	0	0	2	0	2	0	3	1	2	3	3	1	7	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.3609G>A	p.Trp1203Ter	p.W1203*	ENST00000253255	1/1	207	148	59	281	280	1	strelka-varscan-mutect	PKDREJ,stop_gained,p.Trp1203Ter,ENST00000253255,NM_006071.1;	T	ENST00000253255	Transcript	stop_gained	3642/7693	3609/6762	1203/2253	W/*	tgG/tgA		1		-1	PKDREJ	HGNC	HGNC:9015	protein_coding	YES	CCDS14073.1	ENSP00000253255	Q9NTG1		UPI0000031D01	NM_006071.1			1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF141																	HIGH	1	SNV				1										PASS		.	.												T	4	4	50	46259714	46259714	C	T	1	0	0	0	0	0	1	0	0	12066	624	22	3		3	PKDREJ	22	46259714	Nonsense_Mutation	SNP	C	C3N-00547_TP	1366204	46259714	4558754	709	16170											
MAP3K15	0	.	GRCh38	chrX	19431584	19431584	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatgatctgcagagccttCtcacggtcacctgtgctgtt	7	12	10	12	1	3	2	2	1	2	1	4	2	3	2	2	1	4	4	2	1	0	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.1020G>A	p.=	p.E340E	ENST00000338883	7/29	69	26	43	65	65	0	strelka-varscan-mutect	MAP3K15,synonymous_variant,p.=,ENST00000338883,NM_001001671.3;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;MAP3K15,synonymous_variant,p.=,ENST00000359173,;	T	ENST00000338883	Transcript	synonymous_variant	1020/4012	1020/3942	340/1313	E	gaG/gaA		1		-1	MAP3K15	HGNC	HGNC:31689	protein_coding	YES	CCDS35212.2	ENSP00000345629	Q6ZN16		UPI0000E444D0	NM_001001671.3			7/29		hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363,Pfam_domain:PF13281																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	50	19431584	19431584	C	T	1	0	0	0	0	0	0	0	1	9171	912	32	3		3	MAP3K15	23	19431584	Silent	SNP	C	C3N-00547_TP		19431584	136609311	710	16171											
MAGEB6	0	.	GRCh38	chrX	26194538	26194538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtccgcagagagtacaagcCctacttccctcagatcctca	10	9	7	15	1	2	2	2	0	0	2	5	3	5	2	4	0	3	2	4	0	3	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.692C>T	p.Pro231Leu	p.P231L	ENST00000379034	2/2	71	52	19	46	46	0	strelka-varscan-mutect	MAGEB6,missense_variant,p.Pro231Leu,ENST00000379034,NM_173523.2;	T	ENST00000379034	Transcript	missense_variant	841/1949	692/1224	231/407	P/L	cCc/cTc		1		1	MAGEB6	HGNC	HGNC:23796	protein_coding	YES	CCDS14217.1	ENSP00000368320	Q8N7X4		UPI00001413F4	NM_173523.2	tolerated(0.19)		2/2		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF80,hmmpanther:PTHR11736,Pfam_domain:PF01454,SMART_domains:SM01373																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	26194538	26194538	C	T	1	0	0	0	0	1	0	0	0	9096	623	22	3		3	MAGEB6	23	26194538	Missense_Mutation	SNP	C	C3N-00547_TP	6762954	26194538	129846357	711	16172											
HUWE1	0	.	GRCh38	chrX	53559497	53559497	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaggctgctgctcagcTgaaggatgtcagcagcagct	9	7	16	9	0	2	1	2	1	0	0	2	3	2	3	0	4	6	7	0	4	2	0	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.7772A>T	p.Gln2591Leu	p.Q2591L	ENST00000342160	56/83	166	73	93	132	132	0	strelka-varscan-mutect	HUWE1,missense_variant,p.Gln2591Leu,ENST00000342160,;HUWE1,missense_variant,p.Gln2591Leu,ENST00000262854,NM_031407.6;HUWE1,missense_variant,p.Gln2582Leu,ENST00000612484,;MIR98,upstream_gene_variant,,ENST00000606724,;MIRLET7F2,upstream_gene_variant,,ENST00000385277,;	A	ENST00000342160	Transcript	missense_variant	8230/14796	7772/13125	2591/4374	Q/L	cAg/cTg		1		-1	HUWE1	HGNC	HGNC:30892	protein_coding	YES	CCDS35301.1	ENSP00000340648	Q7Z6Z7	A0A024R9W5	UPI00004A0DAC		deleterious(0)		56/83		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	50	53559497	53559497	T	A	1	0	0	0	0	1	0	0	0	7357	1580	55	4		4	HUWE1	23	53559497	Missense_Mutation	SNP	T	C3N-00547_TP	27364959	53559497	102481398	712	16173											
AMER1	0	.	GRCh38	chrX	64190247	64190247	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttgaggcccagattcccCaggtgcccttgactctggca	7	10	11	13	0	1	3	0	2	1	1	2	3	2	3	4	3	1	2	4	3	1	4	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.3040G>T	p.Gly1014Trp	p.G1014W	ENST00000330258	2/2	54	17	37	57	57	0	strelka-varscan-mutect	AMER1,missense_variant,p.Gly1014Trp,ENST00000330258,NM_152424.3;AMER1,intron_variant,,ENST00000374869,;	A	ENST00000330258	Transcript	missense_variant	3313/8443	3040/3408	1014/1135	G/W	Ggg/Tgg		1		-1	AMER1	HGNC	HGNC:26837	protein_coding	YES	CCDS14377.2	ENSP00000329117	Q5JTC6		UPI0000EDA0FC	NM_152424.3	deleterious(0.01)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	64190247	64190247	C	A	1	0	0	0	0	1	0	0	0	667	594	21	2		2	AMER1	23	64190247	Missense_Mutation	SNP	C	C3N-00547_TP	10630750	64190247	91850648	713	16174											
OTUD6A	0	.	GRCh38	chrX	70062975	70062975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgatcccggccgacggcCactgcatgtaccgcgccatc	8	5	11	17	6	0	0	0	0	0	0	2	2	1	0	5	2	3	2	5	2	2	1	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.451C>A	p.His151Asn	p.H151N	ENST00000338352	1/1	193	71	122	122	122	0	strelka-varscan-mutect	OTUD6A,missense_variant,p.His151Asn,ENST00000338352,NM_207320.2;	A	ENST00000338352	Transcript	missense_variant	485/1689	451/867	151/288	H/N	Cac/Aac		1		1	OTUD6A	HGNC	HGNC:32312	protein_coding	YES	CCDS14395.1	ENSP00000339389	Q7L8S5		UPI00000712B7	NM_207320.2	tolerated(0.07)		1/1		PROSITE_profiles:PS50802,hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF13,Pfam_domain:PF02338,Superfamily_domains:SSF54001																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	50	70062975	70062975	C	A	1	0	0	0	0	1	0	0	0	11385	594	21	2		2	OTUD6A	23	70062975	Missense_Mutation	SNP	C	C3N-00547_TP	5872728	70062975	85977920	714	16175											
DGAT2L6	0	.	GRCh38	chrX	70200385	70200385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cattgctcggattttcccatCcatcactccctttgtaggga	7	14	7	13	1	1	0	1	0	0	0	5	2	4	2	3	2	1	2	3	2	1	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.398C>T	p.Ser133Phe	p.S133F	ENST00000333026	4/7	202	80	122	227	227	0	strelka-varscan-mutect	DGAT2L6,missense_variant,p.Ser133Phe,ENST00000333026,NM_198512.2;	T	ENST00000333026	Transcript	missense_variant	498/1553	398/1014	133/337	S/F	tCc/tTc		1		1	DGAT2L6	HGNC	HGNC:23250	protein_coding	YES	CCDS14397.1	ENSP00000328036	Q6ZPD8		UPI00001C10BF	NM_198512.2	deleterious(0)		4/7		Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF19																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	50	70200385	70200385	C	T	1	0	0	0	0	1	0	0	0	4266	855	30	3		3	DGAT2L6	23	70200385	Missense_Mutation	SNP	C	C3N-00547_TP	137410	70200385	85840510	715	16176											
PHKA1	0	.	GRCh38	chrX	72667423	72667423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatggataactgattgaggCccacctttcacaccaaacag	14	8	7	12	0	1	2	1	2	0	0	1	3	1	3	3	2	2	0	3	2	2	3	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.669G>A	p.=	p.G223G	ENST00000373542	7/32	238	84	154	175	175	0	strelka-varscan-mutect	PHKA1,synonymous_variant,p.=,ENST00000373545,;PHKA1,synonymous_variant,p.=,ENST00000339490,NM_001122670.1;PHKA1,synonymous_variant,p.=,ENST00000373542,NM_002637.3;PHKA1,synonymous_variant,p.=,ENST00000541944,NM_001172436.1;PHKA1,synonymous_variant,p.=,ENST00000373539,;	T	ENST00000373542	Transcript	synonymous_variant	829/6020	669/3672	223/1223	G	ggG/ggA		1		-1	PHKA1	HGNC	HGNC:8925	protein_coding	YES	CCDS14421.1	ENSP00000362643	P46020		UPI000013D340	NM_002637.3			7/32		hmmpanther:PTHR10749:SF4,hmmpanther:PTHR10749,Pfam_domain:PF00723,Gene3D:1.50.10.10,Superfamily_domains:SSF48208																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	50	72667423	72667423	C	T	1	0	0	0	0	0	0	0	1	11931	726	26	3		3	PHKA1	23	72667423	Silent	SNP	C	C3N-00547_TP	2467038	72667423	83373472	716	16177											
BRWD3	0	.	GRCh38	chrX	80692940	80692940	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcataaacatacttacTgaacactgtaacactggaaa	19	9	5	8	0	1	2	1	1	0	1	1	3	1	3	0	1	5	1	0	1	8	4	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.3263A>T	p.His1088Leu	p.H1088L	ENST00000373275	28/41	140	55	85	144	144	0	strelka-varscan-mutect	BRWD3,missense_variant,p.His1088Leu,ENST00000373275,NM_153252.4;BRWD3,splice_region_variant,,ENST00000473691,;	A	ENST00000373275	Transcript	missense_variant,splice_region_variant	3480/11381	3263/5409	1088/1802	H/L	cAc/cTc		1		-1	BRWD3	HGNC	HGNC:17342	protein_coding	YES	CCDS14447.1	ENSP00000362372	Q6RI45		UPI000045785B	NM_153252.4	tolerated(0.16)		28/41		hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	80692940	80692940	T	A	1	0	0	0	0	1	0	0	0	1700	1594	55	4		4	BRWD3	23	80692940	Missense_Mutation	SNP	T	C3N-00547_TP	8025517	80692940	75347955	717	16178											
BRWD3	0	.	GRCh38	chrX	80809032	80809032	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgctcctcgagctccTgcactagcacctgagcaaaa	10	8	8	15	1	0	2	0	2	0	0	3	3	2	2	4	0	5	5	4	0	3	1	novel		C3N-00547_TP	C3N-00547_NB	T	T																c.101A>T	p.Gln34Leu	p.Q34L	ENST00000373275	3/41	267	111	156	224	224	0	strelka-varscan-mutect	BRWD3,missense_variant,p.Gln34Leu,ENST00000373275,NM_153252.4;BRWD3,non_coding_transcript_exon_variant,,ENST00000478415,;	A	ENST00000373275	Transcript	missense_variant	318/11381	101/5409	34/1802	Q/L	cAg/cTg		1		-1	BRWD3	HGNC	HGNC:17342	protein_coding	YES	CCDS14447.1	ENSP00000362372	Q6RI45		UPI000045785B	NM_153252.4	tolerated(0.12)		3/41		hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	80809032	80809032	T	A	1	0	0	0	0	1	0	0	0	1700	1580	55	4		4	BRWD3	23	80809032	Missense_Mutation	SNP	T	C3N-00547_TP	116092	80809032	75231863	718	16179											
DACH2	0	.	GRCh38	chrX	86514287	86514287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttttcaacagttcaagacCcggcaggccccctaagcgtt	9	10	9	13	2	2	1	2	0	0	1	2	1	2	1	3	2	2	4	3	2	3	5	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.536C>A	p.Pro179His	p.P179H	ENST00000373125	3/12	128	42	86	107	107	0	strelka-varscan-mutect	DACH2,missense_variant,p.Pro166His,ENST00000373131,NM_001139514.1;DACH2,missense_variant,p.Pro179His,ENST00000373125,NM_053281.3;DACH2,missense_variant,p.Pro12His,ENST00000508860,NM_001139515.1;DACH2,missense_variant,p.Pro7His,ENST00000613770,;DACH2,5_prime_UTR_variant,,ENST00000510272,;DACH2,missense_variant,p.Pro179His,ENST00000461604,;DACH2,3_prime_UTR_variant,,ENST00000506327,;	A	ENST00000373125	Transcript	missense_variant	536/2232	536/1800	179/599	P/H	cCc/cAc		1		1	DACH2	HGNC	HGNC:16814	protein_coding	YES	CCDS14455.1	ENSP00000362217	Q96NX9		UPI00000717B4	NM_053281.3	deleterious(0)		3/12		hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	50	86514287	86514287	C	A	1	0	0	0	0	1	0	0	0	4022	623	22	2		2	DACH2	23	86514287	Missense_Mutation	SNP	C	C3N-00547_TP	5705255	86514287	69526608	719	16180											
DIAPH2	0	.	GRCh38	chrX	97141764	97141764	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcctaaaatttcctgaaGaactggaacacgtagaaagt	17	10	7	7	1	0	3	0	1	0	2	2	4	2	4	2	1	2	1	2	1	8	4	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2689G>T	p.Glu897Ter	p.E897*	ENST00000324765	22/27	61	30	31	129	129	0	strelka-varscan-mutect	DIAPH2,stop_gained,p.Glu897Ter,ENST00000324765,NM_006729.4;DIAPH2,stop_gained,p.Glu897Ter,ENST00000373061,;DIAPH2,stop_gained,p.Glu897Ter,ENST00000355827,;DIAPH2,stop_gained,p.Glu897Ter,ENST00000373049,NM_007309.3;DIAPH2,stop_gained,p.Glu904Ter,ENST00000373054,;	T	ENST00000324765	Transcript	stop_gained	3036/9333	2689/3306	897/1101	E/*	Gaa/Taa		1		1	DIAPH2	HGNC	HGNC:2877	protein_coding	YES	CCDS14467.1	ENSP00000321348	O60879		UPI00001293C8	NM_006729.4			22/27		PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF174,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	50	97141764	97141764	G	T	1	0	0	0	0	0	1	0	0	4323	943	33	2		2	DIAPH2	23	97141764	Nonsense_Mutation	SNP	G	C3N-00547_TP	10627477	97141764	58899131	720	16181											
GPRASP2	0	.	GRCh38	chrX	102715726	102715726	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggtctggatctgaggAtgaggccagcaacccattct	8	11	11	11	0	3	2	0	2	3	0	4	4	4	4	3	4	2	1	3	4	1	2	novel		C3N-00547_TP	C3N-00547_NB	A	A																c.857A>T	p.Asp286Val	p.D286V	ENST00000543253	5/5	115	67	48	139	139	0	strelka-varscan-mutect	GPRASP2,missense_variant,p.Asp286Val,ENST00000543253,NM_001004051.3,NM_001184876.2,NM_001184874.2;GPRASP2,missense_variant,p.Asp286Val,ENST00000535209,NM_001184875.2;GPRASP2,missense_variant,p.Asp286Val,ENST00000332262,NM_001199818.1,NM_138437.5;BHLHB9,upstream_gene_variant,,ENST00000457056,NM_001142528.1,NM_001142527.1,NM_001142525.1,NM_001142526.1,NM_001142524.1;BHLHB9,upstream_gene_variant,,ENST00000361229,NM_030639.2;ARMCX5-GPRASP2,downstream_gene_variant,,ENST00000486740,;GPRASP2,downstream_gene_variant,,ENST00000486814,;GPRASP2,downstream_gene_variant,,ENST00000483720,;ARMCX5-GPRASP2,downstream_gene_variant,,ENST00000602366,;ARMCX5-GPRASP2,downstream_gene_variant,,ENST00000602463,;BHLHB9,upstream_gene_variant,,ENST00000483294,;	T	ENST00000543253	Transcript	missense_variant	1929/3935	857/2517	286/838	D/V	gAt/gTt		1		1	GPRASP2	HGNC	HGNC:25169	protein_coding	YES	CCDS14501.1	ENSP00000437872	Q96D09		UPI000006F01A	NM_001004051.3,NM_001184876.2,NM_001184874.2	deleterious(0)		5/5		hmmpanther:PTHR15712:SF10,hmmpanther:PTHR15712																	MODERATE	1	SNV	4			1										PASS		.	.												T	3	4	50	102715726	102715726	A	T	1	0	0	0	0	1	0	0	0	6602	333	12	4		4	GPRASP2	23	102715726	Missense_Mutation	SNP	A	C3N-00547_TP	5573962	102715726	53325169	721	16182											
CXorf57	0	.	GRCh38	chrX	106662107	106662107	+	Missense_Mutation	SNP	G	G	T																															tgtggagagagaaaaagtttGgcttaatagatcacctacac																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2071G>T	p.Gly691Cys	p.G691C	ENST00000372548	12/14	116	73	43	161	161	0	strelka-varscan-mutect	CXorf57,missense_variant,p.Gly691Cys,ENST00000372548,NM_018015.5;CXorf57,missense_variant,p.Gly594Cys,ENST00000372544,NM_001184782.1;CXorf57,missense_variant,p.Gly402Cys,ENST00000421550,;CXorf57,non_coding_transcript_exon_variant,,ENST00000497124,;	T	ENST00000372548	Transcript	missense_variant	2180/3861	2071/2568	691/855	G/C	Ggc/Tgc		1		1	CXorf57	HGNC	HGNC:25486	protein_coding	YES	CCDS14519.1	ENSP00000361628	Q6NSI4		UPI000021220A	NM_018015.5	deleterious(0.04)		12/14		hmmpanther:PTHR14944,hmmpanther:PTHR14944:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	106662107	106662107	G	T	1	0	0	0	0	1	0	0	0	3917	1348	47	2		2	CXorf57	23	106662107	Missense_Mutation	SNP	G	C3N-00547_TP	3946381	106662107	49378788	722	16183	349	2									
CXorf57	0	.	GRCh38	chrX	106662108	106662108	+	Missense_Mutation	SNP	G	G	T																															gtggagagagaaaaagtttgGcttaatagatcacctacact																								novel		C3N-00547_TP	C3N-00547_NB	G	G																c.2072G>T	p.Gly691Val	p.G691V	ENST00000372548	12/14	116	72	44	163	163	0	strelka-varscan-mutect	CXorf57,missense_variant,p.Gly691Val,ENST00000372548,NM_018015.5;CXorf57,missense_variant,p.Gly594Val,ENST00000372544,NM_001184782.1;CXorf57,missense_variant,p.Gly402Val,ENST00000421550,;CXorf57,non_coding_transcript_exon_variant,,ENST00000497124,;	T	ENST00000372548	Transcript	missense_variant	2181/3861	2072/2568	691/855	G/V	gGc/gTc		1		1	CXorf57	HGNC	HGNC:25486	protein_coding	YES	CCDS14519.1	ENSP00000361628	Q6NSI4		UPI000021220A	NM_018015.5	tolerated(0.2)		12/14		hmmpanther:PTHR14944,hmmpanther:PTHR14944:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	106662108	106662108	G	T	1	0	0	0	0	1	0	0	0	3917	1203	42	2		2	CXorf57	23	106662108	Missense_Mutation	SNP	G	C3N-00547_TP	1	106662108	49378787	723	16184	349	2									
ACSL4	0	.	GRCh38	chrX	109681119	109681119	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatatgtttaacacaactGatatctaacaatgcagtctg	15	13	6	7	0	2	2	0	2	2	0	2	2	2	2	0	0	4	2	0	0	6	5	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.657C>T	p.=	p.I219I	ENST00000340800	7/17	95	80	15	105	105	0	strelka-varscan-mutect	ACSL4,synonymous_variant,p.=,ENST00000340800,NM_001318509.1,NM_022977.2;ACSL4,synonymous_variant,p.=,ENST00000469796,;ACSL4,synonymous_variant,p.=,ENST00000348502,NM_001318510.1,NM_004458.2;ACSL4,downstream_gene_variant,,ENST00000502391,;ACSL4,downstream_gene_variant,,ENST00000508092,;ACSL4,downstream_gene_variant,,ENST00000505855,;ACSL4,downstream_gene_variant,,ENST00000504980,;ACSL4,downstream_gene_variant,,ENST00000469857,;	A	ENST00000340800	Transcript	synonymous_variant	1162/5333	657/2136	219/711	I	atC/atT		1		-1	ACSL4	HGNC	HGNC:3571	protein_coding	YES	CCDS14548.1	ENSP00000339787	O60488		UPI000012E293	NM_001318509.1,NM_022977.2			7/17		Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF241,Superfamily_domains:SSF56801																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	50	109681119	109681119	G	A	1	0	0	0	0	0	0	0	1	221	1280	45	3		3	ACSL4	23	109681119	Silent	SNP	G	C3N-00547_TP	3019011	109681119	46359776	724	16185											
DOCK11	0	.	GRCh38	chrX	118681138	118681138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaaaaccaattgatgttGccactgatgaaataaaagat	18	12	6	5	0	0	4	0	3	0	1	0	4	0	4	2	0	2	1	2	0	6	5	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.5752G>T	p.Ala1918Ser	p.A1918S	ENST00000276202	50/53	43	29	14	57	57	0	strelka-varscan-mutect	DOCK11,missense_variant,p.Ala1918Ser,ENST00000276204,;DOCK11,missense_variant,p.Ala1918Ser,ENST00000276202,NM_144658.3;DOCK11,missense_variant,p.Ala1747Ser,ENST00000633080,;DOCK11,upstream_gene_variant,,ENST00000632573,;	T	ENST00000276202	Transcript	missense_variant	5815/6625	5752/6222	1918/2073	A/S	Gcc/Tcc		1		1	DOCK11	HGNC	HGNC:23483	protein_coding	YES	CCDS35373.1	ENSP00000276202	Q5JSL3		UPI000022DB8F	NM_144658.3	deleterious(0)		50/53		Pfam_domain:PF06920,PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF81																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	50	118681138	118681138	G	T	1	0	0	0	0	1	0	0	0	4501	1319	46	2		2	DOCK11	23	118681138	Missense_Mutation	SNP	G	C3N-00547_TP	9000019	118681138	37359757	725	16186											
SEPT6	0	.	GRCh38	chrX	119652908	119652908	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacttcagggaatgaccCgtgggggcaatgaaatacaa	15	6	13	7	1	1	3	1	2	0	1	1	5	1	4	1	3	1	1	1	3	5	2	novel		C3N-00547_TP	C3N-00547_NB	C	C																c.474G>T	p.=	p.T158T	ENST00000343984	4/10	80	45	35	82	82	0	strelka-mutect	SEPT6,synonymous_variant,p.=,ENST00000394610,NM_145799.3;SEPT6,synonymous_variant,p.=,ENST00000354416,;SEPT6,synonymous_variant,p.=,ENST00000343984,NM_015129.5;SEPT6,synonymous_variant,p.=,ENST00000360156,NM_145800.3;SEPT6,synonymous_variant,p.=,ENST00000489216,;SEPT6,synonymous_variant,p.=,ENST00000354228,NM_145802.3;SEPT6,synonymous_variant,p.=,ENST00000460411,;	A	ENST00000343984	Transcript	synonymous_variant	739/2693	474/1305	158/434	T	acG/acT		1		-1	SEPT6	HGNC	HGNC:15848	protein_coding	YES	CCDS14584.1	ENSP00000341524	Q14141		UPI0000001C54	NM_015129.5			4/10		PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF55,Pfam_domain:PF00735,PIRSF_domain:PIRSF006698,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	119652908	119652908	C	A	1	0	0	0	0	0	0	0	1	14344	639	23	1		1	SEPT6	23	119652908	Silent	SNP	C	C3N-00547_TP	971770	119652908	36387987	726	16187											
RHOXF1	0	.	GRCh38	chrX	120115767	120115767	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccaacatggccttctgcGcttgatgctgcccccagctg	5	10	11	15	1	1	1	0	1	1	0	1	1	1	1	4	2	5	3	4	2	1	2			C3N-00547_TP	C3N-00547_NB	G	G																c.96C>G	p.Ser32Arg	p.S32R	ENST00000217999	1/3	75	36	39	111	111	0	strelka-varscan-mutect	RHOXF1,missense_variant,p.Ser32Arg,ENST00000217999,NM_139282.2;LINC01402,downstream_gene_variant,,ENST00000422226,;RHOXF1-AS1,intron_variant,,ENST00000553843,;RHOXF1-AS1,upstream_gene_variant,,ENST00000555831,;RHOXF1-AS1,upstream_gene_variant,,ENST00000557073,;	C	ENST00000217999	Transcript	missense_variant	171/769	96/555	32/184	S/R	agC/agG	COSM5366920	1		-1	RHOXF1	HGNC	HGNC:29993	protein_coding	YES	CCDS14593.1	ENSP00000217999	Q8NHV9		UPI0000046608	NM_139282.2	tolerated(0.53)		1/3		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF317											1						MODERATE	1	SNV	1		1	1										PASS		rs1377162159	.												C	3	2	50	120115767	120115767	G	C	1	0	0	0	0	1	0	0	0	13520	1078	38	4		4	RHOXF1	23	120115767	Missense_Mutation	SNP	G	C3N-00547_TP	462859	120115767	35925128	727	16188											
RAB33A	0	.	GRCh38	chrX	130184575	130184575	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgagacatcggccaaGgaccccaaagagagccagaa	14	6	11	10	1	0	3	0	1	0	3	1	6	0	4	4	2	1	1	4	2	3	2	novel		C3N-00547_TP	C3N-00547_NB	G	G																c.549G>A	p.=	p.K183K	ENST00000257017	2/2	281	162	119	317	316	1	strelka-varscan-mutect	RAB33A,synonymous_variant,p.=,ENST00000257017,NM_004794.2;	A	ENST00000257017	Transcript	synonymous_variant	963/1258	549/714	183/237	K	aaG/aaA		1		1	RAB33A	HGNC	HGNC:9773	protein_coding	YES	CCDS14621.1	ENSP00000257017	Q14088		UPI000000126B	NM_004794.2			2/2		PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF326,hmmpanther:PTHR24073,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	50	130184575	130184575	G	A	1	0	0	0	0	0	0	0	1	13081	991	35	3		3	RAB33A	23	130184575	Silent	SNP	G	C3N-00547_TP	10068808	130184575	25856320	728	16189											
PLAC1	0	.	GRCh38	chrX	134566199	134566199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacacaaggtggacaatCgcagttgggcctttgactgg	11	8	14	8	1	0	2	0	1	0	1	1	4	0	3	1	4	0	2	1	4	3	2	rs200146015		C3N-00547_TP	C3N-00547_NB	C	C																c.484G>T	p.Asp162Tyr	p.D162Y	ENST00000359237	3/3	304	107	197	179	178	1	strelka-varscan-mutect	PLAC1,missense_variant,p.Asp162Tyr,ENST00000359237,NM_021796.3;PLAC1,non_coding_transcript_exon_variant,,ENST00000476971,;PLAC1,downstream_gene_variant,,ENST00000473897,;	A	ENST00000359237	Transcript	missense_variant	770/1131	484/639	162/212	D/Y	Gat/Tat	rs200146015,COSM4589198	1		-1	PLAC1	HGNC	HGNC:9044	protein_coding	YES	CCDS14642.1	ENSP00000352173	Q9HBJ0		UPI0000070F9F	NM_021796.3	deleterious(0.03)		3/3		hmmpanther:PTHR14380,hmmpanther:PTHR14380:SF2											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs200146015	.												A	3	1	50	134566199	134566199	C	A	1	0	0	0	0	1	0	0	0	12108	884	31	1		1	PLAC1	23	134566199	Missense_Mutation	SNP	C	C3N-00547_TP	4381624	134566199	21474696	729	16190											
CFAP74	0	.	GRCh38	chr1	1966451	1966451	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcctctgagctggccccggGgtccccctggataagctcac	5	8	11	17	1	2	1	1	1	1	0	4	2	4	2	5	4	2	2	5	4	1	1	rs754420662		C3N-00549_TP	C3N-00549_NB	G	G																c.1321C>A	p.Pro441Thr	p.P441T	ENST00000493964	12/38	61	21	40	65	65	0	strelka-varscan-mutect	CFAP74,missense_variant,p.Pro441Thr,ENST00000493964,NM_001304360.1;CFAP74,non_coding_transcript_exon_variant,,ENST00000270720,;CFAP74,non_coding_transcript_exon_variant,,ENST00000468610,;	T	ENST00000493964	Transcript	missense_variant	1477/5247	1321/4755	441/1584	P/T	Ccc/Acc	rs754420662	1		-1	CFAP74	HGNC	HGNC:29368	protein_coding	YES		ENSP00000417061	Q9C0B2		UPI0004620AE2	NM_001304360.1	tolerated(0.56)		12/38		hmmpanther:PTHR22538																	MODERATE	1	SNV	5			1										PASS		rs754420662	.												T	3	4	51	1966451	1966451	G	T	1	0	0	0	0	1	0	0	0	3033	1232	43	2		2	CFAP74	1	1966451	Missense_Mutation	SNP	G	C3N-00549_TP		1966451	246989971	1	16191											
SPEN	0	.	GRCh38	chr1	15931584	15931584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagccagacgccactgcaGatgctgagcctgatgcaaac	14	5	10	12	1	0	4	0	2	0	2	0	4	0	4	3	0	6	3	3	0	3	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.5344G>T	p.Asp1782Tyr	p.D1782Y	ENST00000375759	11/15	87	35	52	103	103	0	strelka-varscan-mutect	SPEN,missense_variant,p.Asp1782Tyr,ENST00000375759,NM_015001.2;	T	ENST00000375759	Transcript	missense_variant	5548/12232	5344/10995	1782/3664	D/Y	Gat/Tat		1		1	SPEN	HGNC	HGNC:17575	protein_coding	YES	CCDS164.1	ENSP00000364912	Q96T58		UPI000006FF0C	NM_015001.2	deleterious(0.02)		11/15		hmmpanther:PTHR23189:SF48,hmmpanther:PTHR23189																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	15931584	15931584	G	T	1	0	0	0	0	1	0	0	0	15389	942	33	2		2	SPEN	1	15931584	Missense_Mutation	SNP	G	C3N-00549_TP	13965133	15931584	233024838	2	16192											
SPATA21	0	.	GRCh38	chr1	16409912	16409912	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaggcctccattttctcCacctccagcaagcacttcat	8	11	7	15	0	2	0	1	0	1	0	5	1	4	1	5	2	2	2	5	2	1	3	rs145844310		C3N-00549_TP	C3N-00549_NB	C	C																c.276G>T	p.=	p.V92V	ENST00000335496	6/13	67	28	39	123	123	0	strelka-varscan-mutect	SPATA21,synonymous_variant,p.=,ENST00000335496,NM_198546.1;SPATA21,synonymous_variant,p.=,ENST00000540400,;SPATA21,non_coding_transcript_exon_variant,,ENST00000466212,;	A	ENST00000335496	Transcript	synonymous_variant	759/2015	276/1410	92/469	V	gtG/gtT	rs145844310	1		-1	SPATA21	HGNC	HGNC:28026	protein_coding	YES	CCDS172.1	ENSP00000335612	Q7Z572		UPI00001B4B16	NM_198546.1			6/13		hmmpanther:PTHR10891:SF596,hmmpanther:PTHR10891																	LOW	1	SNV	1			1										PASS		rs145844310	.												A	2	1	51	16409912	16409912	C	A	1	0	0	0	0	0	0	0	1	15337	581	21	2		2	SPATA21	1	16409912	Silent	SNP	C	C3N-00549_TP	478328	16409912	232546510	3	16193											
PAX7	0	.	GRCh38	chr1	18700689	18700689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcgcccgttggcgtaagCaggcaggagccaaccagctg	8	4	15	14	4	0	0	0	0	0	0	0	1	0	1	4	3	4	5	4	3	2	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.823C>A	p.Gln275Lys	p.Q275K	ENST00000375375	6/8	50	13	37	62	62	0	strelka-varscan-mutect	PAX7,missense_variant,p.Gln275Lys,ENST00000420770,NM_001135254.1;PAX7,missense_variant,p.Gln275Lys,ENST00000375375,NM_002584.2;PAX7,missense_variant,p.Gln273Lys,ENST00000400661,NM_013945.2;	A	ENST00000375375	Transcript	missense_variant	1421/2260	823/1563	275/520	Q/K	Cag/Aag		1		1	PAX7	HGNC	HGNC:8621	protein_coding	YES	CCDS186.1	ENSP00000364524	P23759		UPI000004A132	NM_002584.2	deleterious(0.01)		6/8		PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF248,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	18700689	18700689	C	A	1	0	0	0	0	1	0	0	0	11569	711	25	2		2	PAX7	1	18700689	Missense_Mutation	SNP	C	C3N-00549_TP	2290777	18700689	230255733	4	16194											
FGR	0	.	GRCh38	chr1	27614481	27614481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacgcgccaagccaaagtCtgcgatcttgcacgccagcc	10	5	11	15	4	2	1	0	0	2	1	2	3	2	1	4	0	4	1	4	0	2	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1198G>T	p.Asp400Tyr	p.D400Y	ENST00000374005	11/13	137	46	91	155	155	0	strelka-varscan-mutect	FGR,missense_variant,p.Asp400Tyr,ENST00000374005,NM_005248.2;FGR,missense_variant,p.Asp400Tyr,ENST00000399173,NM_001042747.1;FGR,missense_variant,p.Asp400Tyr,ENST00000374004,;FGR,missense_variant,p.Asp400Tyr,ENST00000374003,NM_001042729.1;FGR,downstream_gene_variant,,ENST00000457296,;	A	ENST00000374005	Transcript	missense_variant	1487/2729	1198/1590	400/529	D/Y	Gac/Tac		1		-1	FGR	HGNC	HGNC:3697	protein_coding	YES	CCDS305.1	ENSP00000363117	P09769		UPI000012A72F	NM_005248.2	deleterious(0)		11/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF224,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	27614481	27614481	C	A	1	0	0	0	0	1	0	0	0	5738	913	32	2		2	FGR	1	27614481	Missense_Mutation	SNP	C	C3N-00549_TP	8913792	27614481	221341941	5	16195											
COL16A1	0	.	GRCh38	chr1	31681044	31681044	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgttcctctgagtcccgtCtgtccttgctgcccatcacg	3	13	10	15	2	3	1	1	1	2	0	6	1	6	1	4	1	2	2	4	1	0	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.2562G>C	p.Gln854His	p.Q854H	ENST00000373672	38/71	43	19	24	97	97	0	strelka-varscan-mutect	COL16A1,missense_variant,p.Gln854His,ENST00000373672,NM_001856.3;COL16A1,missense_variant,p.Gln854His,ENST00000373668,;COL16A1,missense_variant,p.Gln75His,ENST00000458715,;COL16A1,downstream_gene_variant,,ENST00000482478,;COL16A1,downstream_gene_variant,,ENST00000474000,;COL16A1,downstream_gene_variant,,ENST00000529928,;	G	ENST00000373672	Transcript	missense_variant	3079/5736	2562/4815	854/1604	Q/H	caG/caC		1		-1	COL16A1	HGNC	HGNC:2193	protein_coding	YES	CCDS41297.1	ENSP00000362776	Q07092		UPI0000203DD1	NM_001856.3	tolerated(0.19)		38/71																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	51	31681044	31681044	C	G	1	0	0	0	0	1	0	0	0	3461	912	32	4		4	COL16A1	1	31681044	Missense_Mutation	SNP	C	C3N-00549_TP	4066563	31681044	217275378	6	16196											
CSMD2	0	.	GRCh38	chr1	33546083	33546083	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgagccattggcttgacaGgtgcgctctgacgatccccg	7	8	12	14	4	1	2	0	2	1	0	2	4	2	2	3	2	2	2	3	2	0	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.9054C>G	p.=	p.T3018T	ENST00000373381	57/71	116	32	84	166	166	0	strelka-varscan-mutect	CSMD2,synonymous_variant,p.=,ENST00000373381,NM_001281956.1;CSMD2,synonymous_variant,p.=,ENST00000619121,;CSMD2,synonymous_variant,p.=,ENST00000373388,NM_052896.4;CSMD2,synonymous_variant,p.=,ENST00000241312,;	C	ENST00000373381	Transcript	synonymous_variant	9231/13698	9054/10896	3018/3631	T	acC/acG		1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1			57/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF371,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	51	33546083	33546083	G	C	1	0	0	0	0	0	0	0	1	3746	987	35	4		4	CSMD2	1	33546083	Silent	SNP	G	C3N-00549_TP	1865039	33546083	215410339	7	16197											
CSMD2	0	.	GRCh38	chr1	33580867	33580867	+	Missense_Mutation	SNP	G	G	T																															agctgagtaattcccactgaGggctttcagcagaggactct																								novel		C3N-00549_TP	C3N-00549_NB	G	G																c.7273C>A	p.Leu2425Ile	p.L2425I	ENST00000373381	48/71	97	35	62	164	163	1	strelka-varscan-mutect	CSMD2,missense_variant,p.Leu2425Ile,ENST00000373381,NM_001281956.1;CSMD2,missense_variant,p.Leu2385Ile,ENST00000619121,;CSMD2,missense_variant,p.Leu2427Ile,ENST00000373388,NM_052896.4;CSMD2,missense_variant,p.Leu2427Ile,ENST00000241312,;	T	ENST00000373381	Transcript	missense_variant	7450/13698	7273/10896	2425/3631	L/I	Ctc/Atc		1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1	deleterious(0.01)		48/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	33580867	33580867	G	T	1	0	0	0	0	1	0	0	0	3746	1000	35	2		2	CSMD2	1	33580867	Missense_Mutation	SNP	G	C3N-00549_TP	34784	33580867	215375555	8	16198	350	2									
CSMD2	0	.	GRCh38	chr1	33580868	33580868	+	Silent	SNP	G	G	T																															gctgagtaattcccactgagGgctttcagcagaggactctg																								novel		C3N-00549_TP	C3N-00549_NB	G	G																c.7272C>A	p.=	p.A2424A	ENST00000373381	48/71	93	35	58	163	162	1	strelka-varscan-mutect	CSMD2,synonymous_variant,p.=,ENST00000373381,NM_001281956.1;CSMD2,synonymous_variant,p.=,ENST00000619121,;CSMD2,synonymous_variant,p.=,ENST00000373388,NM_052896.4;CSMD2,synonymous_variant,p.=,ENST00000241312,;	T	ENST00000373381	Transcript	synonymous_variant	7449/13698	7272/10896	2424/3631	A	gcC/gcA		1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1			48/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	LOW	1	SNV	1			1										PASS		rs1368331318	.												T	2	4	51	33580868	33580868	G	T	1	0	0	0	0	0	0	0	1	3746	1219	43	2		2	CSMD2	1	33580868	Silent	SNP	G	C3N-00549_TP	1	33580868	215375554	9	16199	350	2									
PATJ	0	.	GRCh38	chr1	61990350	61990350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacgaatgcgtattggaGatgaactcttagaggtgaga	13	10	14	4	2	1	4	0	2	1	3	1	8	1	5	0	3	2	1	0	3	4	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.3853G>T	p.Asp1285Tyr	p.D1285Y	ENST00000371158	28/43	91	21	70	86	86	0	strelka-varscan-mutect	PATJ,missense_variant,p.Asp1285Tyr,ENST00000371158,NM_176877.2;PATJ,missense_variant,p.Asp69Tyr,ENST00000635137,;PATJ,missense_variant,p.Asp69Tyr,ENST00000307297,;PATJ,missense_variant,p.Asp131Tyr,ENST00000494842,;PATJ,missense_variant,p.Asp101Tyr,ENST00000490547,;PATJ,intron_variant,,ENST00000613764,;PATJ,missense_variant,p.Asp744Tyr,ENST00000484937,;PATJ,3_prime_UTR_variant,,ENST00000635023,;PATJ,non_coding_transcript_exon_variant,,ENST00000484562,;PATJ,non_coding_transcript_exon_variant,,ENST00000459752,;PATJ,non_coding_transcript_exon_variant,,ENST00000635214,;	T	ENST00000371158	Transcript	missense_variant	3967/8505	3853/5406	1285/1801	D/Y	Gat/Tat		1		1	PATJ	HGNC	HGNC:28881	protein_coding	YES	CCDS617.2	ENSP00000360200	Q8NI35		UPI0000204487	NM_176877.2	deleterious(0)		28/43		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	51	61990350	61990350	G	T	1	0	0	0	0	1	0	0	0	11558	942	33	2		2	PATJ	1	61990350	Missense_Mutation	SNP	G	C3N-00549_TP	28409482	61990350	186966072	10	16200											
MIER1	0	.	GRCh38	chr1	66984855	66984855	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatttttccaagaagcAgtctcacatgggaaatttga	13	13	8	7	0	2	3	1	2	2	1	4	4	3	4	1	1	1	1	1	1	4	3	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.1653A>T	p.=	p.A551A	ENST00000401041	14/14	77	24	53	100	100	0	strelka-varscan-mutect	MIER1,synonymous_variant,p.=,ENST00000357692,NM_001146112.1,NM_020948.3,NM_001146110.1;MIER1,synonymous_variant,p.=,ENST00000355356,NM_001077701.2;MIER1,synonymous_variant,p.=,ENST00000401041,NM_001077700.2;MIER1,intron_variant,,ENST00000371018,NM_001146111.1;MIER1,intron_variant,,ENST00000355977,NM_001146113.1;MIER1,intron_variant,,ENST00000371016,NM_001077702.2;MIER1,intron_variant,,ENST00000371014,NM_001077703.2;MIER1,intron_variant,,ENST00000401042,NM_001077704.2;	T	ENST00000401041	Transcript	synonymous_variant	1723/2552	1653/1698	551/565	A	gcA/gcT		1		1	MIER1	HGNC	HGNC:29657	protein_coding	YES	CCDS53326.1	ENSP00000383820	Q8N108		UPI0000204526	NM_001077700.2			14/14		hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF24																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	51	66984855	66984855	A	T	1	0	0	0	0	0	0	0	1	9543	175	7	4		4	MIER1	1	66984855	Silent	SNP	A	C3N-00549_TP	4994505	66984855	181971567	11	16201											
ERICH3	0	.	GRCh38	chr1	74589692	74589692	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgagcagtgctttcttcCcaaagcttactcttatcctt	8	15	5	13	0	2	1	0	1	2	0	4	1	4	1	3	0	4	3	3	0	3	5	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.2115G>C	p.Trp705Cys	p.W705C	ENST00000326665	12/15	203	125	78	186	186	0	strelka-varscan-mutect	ERICH3,missense_variant,p.Trp705Cys,ENST00000326665,NM_001002912.4;ERICH3,missense_variant,p.Trp508Cys,ENST00000420661,;ERICH3-AS1,intron_variant,,ENST00000612390,;ERICH3-AS1,upstream_gene_variant,,ENST00000416017,;ERICH3-AS1,upstream_gene_variant,,ENST00000620678,;	G	ENST00000326665	Transcript	missense_variant	2334/7159	2115/4593	705/1530	W/C	tgG/tgC		1		-1	ERICH3	HGNC	HGNC:25346	protein_coding	YES	CCDS30755.1	ENSP00000322609	Q5RHP9		UPI0000237200	NM_001002912.4	deleterious(0.02)		12/15		hmmpanther:PTHR23034																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	51	74589692	74589692	C	G	1	0	0	0	0	1	0	0	0	5083	624	22	4		4	ERICH3	1	74589692	Missense_Mutation	SNP	C	C3N-00549_TP	7604837	74589692	174366730	12	16202											
ZZZ3	0	.	GRCh38	chr1	77632397	77632397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgctatctcccaccaCatctacttcctcctcagaat	9	11	4	17	0	3	1	1	0	2	1	6	1	5	1	4	1	2	2	4	1	3	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.958G>A	p.Val320Met	p.V320M	ENST00000370801	5/15	254	159	95	235	235	0	strelka-varscan-mutect	ZZZ3,missense_variant,p.Val320Met,ENST00000370801,NM_015534.4;ZZZ3,intron_variant,,ENST00000370798,NM_001308237.1;ZZZ3,downstream_gene_variant,,ENST00000433749,;ZZZ3,downstream_gene_variant,,ENST00000414381,;ZZZ3,non_coding_transcript_exon_variant,,ENST00000476275,;ZZZ3,upstream_gene_variant,,ENST00000481346,;ZZZ3,downstream_gene_variant,,ENST00000463166,;	T	ENST00000370801	Transcript	missense_variant	1434/4328	958/2712	320/903	V/M	Gtg/Atg		1		-1	ZZZ3	HGNC	HGNC:24523	protein_coding	YES	CCDS677.1	ENSP00000359837	Q8IYH5		UPI0000074256	NM_015534.4	deleterious(0.02)		5/15		hmmpanther:PTHR22705																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	77632397	77632397	C	T	1	0	0	0	0	1	0	0	0	18860	478	17	3		3	ZZZ3	1	77632397	Missense_Mutation	SNP	C	C3N-00549_TP	3042705	77632397	171324025	13	16203											
VAV3	0	.	GRCh38	chr1	107779448	107779448	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttacctgattcctgtggcCaatgctataggtgttcgaga	8	13	11	9	1	0	2	0	1	0	1	2	3	1	2	3	2	2	3	3	2	4	5	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.366G>T	p.Leu122Phe	p.L122F	ENST00000370056	3/27	90	67	23	101	101	0	strelka-varscan-mutect	VAV3,missense_variant,p.Leu122Phe,ENST00000370056,NM_006113.4;VAV3,missense_variant,p.Leu122Phe,ENST00000527011,;VAV3,missense_variant,p.Leu117Phe,ENST00000490388,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,non_coding_transcript_exon_variant,,ENST00000469325,;VAV3,non_coding_transcript_exon_variant,,ENST00000530671,;VAV3,non_coding_transcript_exon_variant,,ENST00000524574,;	A	ENST00000370056	Transcript	missense_variant	641/4990	366/2544	122/847	L/F	ttG/ttT		1		-1	VAV3	HGNC	HGNC:12659	protein_coding	YES	CCDS785.1	ENSP00000359073	Q9UKW4		UPI0000138212	NM_006113.4	deleterious(0.02)		3/27		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF97,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	107779448	107779448	C	A	1	0	0	0	0	1	0	0	0	17678	593	21	2		2	VAV3	1	107779448	Missense_Mutation	SNP	C	C3N-00549_TP	30147051	107779448	141176974	14	16204											
AHCYL1	0	.	GRCh38	chr1	110017945	110017945	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcctttcttttcttccaGcatggatgggttcagggtgg	4	17	12	8	0	3	0	1	0	2	0	5	1	5	1	2	4	1	3	2	4	0	6	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1053-1G>T		p.X351_splice	ENST00000369799		223	145	78	210	210	0	strelka-varscan-mutect	AHCYL1,splice_acceptor_variant,,ENST00000393614,NM_001242673.1,NM_001242674.1;AHCYL1,splice_acceptor_variant,,ENST00000369799,NM_006621.5;AHCYL1,splice_acceptor_variant,,ENST00000359172,NM_001242675.1,NM_001242676.1;AHCYL1,splice_acceptor_variant,,ENST00000481423,;AHCYL1,downstream_gene_variant,,ENST00000475081,;AHCYL1,upstream_gene_variant,,ENST00000469401,;	T	ENST00000369799	Transcript	splice_acceptor_variant	-/4015	1053/1593	351/530				1		1	AHCYL1	HGNC	HGNC:344	protein_coding	YES	CCDS818.1	ENSP00000358814	O43865	A0A024R0A8	UPI00000022AC	NM_006621.5				10/16																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	51	110017945	110017945	G	T	1	0	0	0	0	0	0	1	0	487	985	34	2		2	AHCYL1	1	110017945	Splice_Site	SNP	G	C3N-00549_TP	2238497	110017945	138938477	15	16205											
HIST2H2BE	0	.	GRCh38	chr1	149886414	149886414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgccaggcgggaagcctctCccgcgatgcgctcgaagatg	7	5	15	14	6	1	1	0	0	1	1	3	4	1	2	3	2	2	1	3	2	2	0	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.227G>T	p.Gly76Val	p.G76V	ENST00000369155	1/1	563	358	205	482	481	1	strelka-varscan-mutect	HIST2H2BE,missense_variant,p.Gly76Val,ENST00000369155,NM_003528.2;BOLA1,upstream_gene_variant,,ENST00000369153,;HIST2H2AB,downstream_gene_variant,,ENST00000331128,NM_175065.2;HIST2H2AC,upstream_gene_variant,,ENST00000331380,NM_003517.2;	A	ENST00000369155	Transcript	missense_variant	239/2194	227/381	76/126	G/V	gGa/gTa		1		-1	HIST2H2BE	HGNC	HGNC:4760	protein_coding	YES	CCDS936.1	ENSP00000358151	Q16778		UPI0000000C6F	NM_003528.2	deleterious_low_confidence(0.03)		1/1		hmmpanther:PTHR23428,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621																	MODERATE		SNV				1										PASS		.	.												A	3	1	51	149886414	149886414	C	A	1	0	0	0	0	1	0	0	0	7067	855	30	2		2	HIST2H2BE	1	149886414	Missense_Mutation	SNP	C	C3N-00549_TP	39868469	149886414	99070008	16	16206											
OTUD7B	0	.	GRCh38	chr1	149949002	149949002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattgtcactatcatctttgCcccactcccagccctttcca	7	13	3	18	0	3	0	2	0	1	0	5	0	5	0	5	0	2	0	5	0	1	4	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1205G>T	p.Gly402Val	p.G402V	ENST00000581312	10/12	187	122	65	113	112	1	strelka-varscan-mutect	OTUD7B,missense_variant,p.Gly402Val,ENST00000581312,NM_020205.3;OTUD7B,missense_variant,p.Gly402Val,ENST00000417191,;	A	ENST00000581312	Transcript	missense_variant	1500/8872	1205/2532	402/843	G/V	gGc/gTc		1		-1	OTUD7B	HGNC	HGNC:16683	protein_coding	YES	CCDS72903.1	ENSP00000462729	Q6GQQ9		UPI000020415D	NM_020205.3	deleterious(0.02)		10/12		hmmpanther:PTHR13367,hmmpanther:PTHR13367:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	149949002	149949002	C	A	1	0	0	0	0	1	0	0	0	11388	739	26	2		2	OTUD7B	1	149949002	Missense_Mutation	SNP	C	C3N-00549_TP	62588	149949002	99007420	17	16207											
HRNR	0	.	GRCh38	chr1	152220906	152220906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgctgactgtaaccagaGgactgccctgagctagactt	10	9	10	12	0	0	4	0	2	0	2	0	5	0	5	3	1	4	3	3	1	2	3	rs775099464		C3N-00549_TP	C3N-00549_NB	G	G																c.723C>T	p.=	p.S241S	ENST00000368801	3/3	576	336	240	623	623	0	strelka-varscan-mutect	HRNR,synonymous_variant,p.=,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	A	ENST00000368801	Transcript	synonymous_variant	799/9623	723/8553	241/2850	S	tcC/tcT	rs775099464	1		-1	HRNR	HGNC	HGNC:20846	protein_coding	YES	CCDS30859.1	ENSP00000357791	Q86YZ3		UPI00001D7CAD	NM_001009931.2			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25																	LOW	1	SNV	1			1										PASS		rs775099464	.												A	2	1	51	152220906	152220906	G	A	1	0	0	0	0	0	0	0	1	7254	987	35	3		3	HRNR	1	152220906	Silent	SNP	G	C3N-00549_TP	2271904	152220906	96735516	18	16208											
FLG	0	.	GRCh38	chr1	152306980	152306980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgatgcagcctgtccacCagaggaagtctgtgtgtgac	9	9	14	9	0	1	3	0	2	1	1	2	5	2	5	3	2	2	1	3	2	1	0	rs138880214		C3N-00549_TP	C3N-00549_NB	C	C																c.7906G>T	p.Gly2636Cys	p.G2636C	ENST00000368799	3/3	126	76	50	107	107	0	strelka-varscan-mutect	FLG,missense_variant,p.Gly2636Cys,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	A	ENST00000368799	Transcript	missense_variant	7942/12747	7906/12186	2636/4061	G/C	Ggt/Tgt	rs138880214	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	tolerated(0.12)		3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571																	MODERATE	1	SNV	1			1										PASS		rs138880214	.												A	3	1	51	152306980	152306980	C	A	1	0	0	0	0	1	0	0	0	5784	594	21	2		2	FLG	1	152306980	Missense_Mutation	SNP	C	C3N-00549_TP	86074	152306980	96649442	19	16209											
FLG	0	.	GRCh38	chr1	152310591	152310591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaacgtccagagctttccCctgactggccacgtgcggac	7	9	11	14	3	0	3	0	2	0	1	2	4	2	4	4	2	3	1	4	2	1	2			C3N-00549_TP	C3N-00549_NB	C	C																c.4295G>A	p.Gly1432Glu	p.G1432E	ENST00000368799	3/3	713	423	290	504	504	0	strelka-varscan-mutect	FLG,missense_variant,p.Gly1432Glu,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	T	ENST00000368799	Transcript	missense_variant	4331/12747	4295/12186	1432/4061	G/E	gGg/gAg	COSM3474039	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	deleterious(0.01)		3/3		Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	51	152310591	152310591	C	T	1	0	0	0	0	1	0	0	0	5784	623	22	3		3	FLG	1	152310591	Missense_Mutation	SNP	C	C3N-00549_TP	3611	152310591	96645831	20	16210											
FLG	0	.	GRCh38	chr1	152313721	152313721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgtctgctgactgctGgtggccggatccatgtcttt	4	13	14	10	1	2	1	0	1	2	0	3	3	3	3	2	4	3	3	2	4	0	1	rs780239211		C3N-00549_TP	C3N-00549_NB	G	G																c.1165C>A	p.Gln389Lys	p.Q389K	ENST00000368799	3/3	617	375	242	543	543	0	strelka-varscan-mutect	FLG,missense_variant,p.Gln389Lys,ENST00000368799,NM_002016.1;FLG-AS1,non_coding_transcript_exon_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368799	Transcript	missense_variant	1201/12747	1165/12186	389/4061	Q/K	Cag/Aag	rs780239211	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	deleterious(0.02)		3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571,Pfam_domain:PF03516																	MODERATE	1	SNV	1			1										PASS		rs780239211	.												T	3	4	51	152313721	152313721	G	T	1	0	0	0	0	1	0	0	0	5784	1357	47	2		2	FLG	1	152313721	Missense_Mutation	SNP	G	C3N-00549_TP	3130	152313721	96642701	21	16211											
FLG2	0	.	GRCh38	chr1	152351246	152351246	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactatcactggactcactGtgactagatctttgtcttcc	8	15	6	12	0	5	2	3	1	2	1	6	3	6	3	1	1	0	0	1	1	2	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.6540C>T	p.=	p.H2180H	ENST00000388718	3/3	219	136	83	199	199	0	strelka-varscan-mutect	FLG2,synonymous_variant,p.=,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,;	A	ENST00000388718	Transcript	synonymous_variant	6613/9124	6540/7176	2180/2391	H	caC/caT		1		-1	FLG2	HGNC	HGNC:33276	protein_coding	YES	CCDS30861.1	ENSP00000373370	Q5D862		UPI00004E1DE5	NM_001014342.2			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571																	LOW		SNV	5			1										PASS		.	.												A	2	1	51	152351246	152351246	G	A	1	0	0	0	0	0	0	0	1	5785	1368	48	3		3	FLG2	1	152351246	Silent	SNP	G	C3N-00549_TP	37525	152351246	96605176	22	16212											
KPRP	0	.	GRCh38	chr1	152760795	152760795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcgatgtccacctcctGctccacgtccacgtctgcgc	5	9	9	18	4	1	0	0	0	1	0	5	1	5	0	5	0	4	2	5	0	0	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1207G>T	p.Ala403Ser	p.A403S	ENST00000606109	1/1	293	165	128	237	237	0	strelka-varscan-mutect	KPRP,missense_variant,p.Ala403Ser,ENST00000606109,NM_001025231.1;	T	ENST00000606109	Transcript	missense_variant	1235/2492	1207/1740	403/579	A/S	Gct/Tct		1		1	KPRP	HGNC	HGNC:31823	protein_coding	YES	CCDS30862.1	ENSP00000475216	Q5T749		UPI0000199942	NM_001025231.1	tolerated(0.13)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF98																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	51	152760795	152760795	G	T	1	0	0	0	0	1	0	0	0	8316	1319	46	2		2	KPRP	1	152760795	Missense_Mutation	SNP	G	C3N-00549_TP	409549	152760795	96195627	23	16213											
LCE1C	0	.	GRCh38	chr1	152805374	152805374	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagagacaggagggcacttAgggggacactttgggggaca	12	5	18	6	0	0	1	0	0	0	1	0	6	0	4	0	6	0	1	0	6	2	2			C3N-00549_TP	C3N-00549_NB	A	A																c.105T>A	p.=	p.P35P	ENST00000607093	1/1	421	262	159	387	387	0	strelka-varscan-mutect	LCE1C,synonymous_variant,p.=,ENST00000607093,NM_001276331.1,NM_178351.3;LCE1C,intron_variant,,ENST00000606576,;	T	ENST00000607093	Transcript	synonymous_variant	105/644	105/357	35/118	P	ccT/ccA	COSM4022558	1		-1	LCE1C	HGNC	HGNC:29464	protein_coding	YES	CCDS1026.1	ENSP00000475270	Q5T751		UPI0000140B0A	NM_001276331.1,NM_178351.3			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23263,Pfam_domain:PF14672,Prints_domain:PR00021											1						LOW	1	SNV			1	1										PASS		rs757242686	.												T	2	4	51	152805374	152805374	A	T	1	0	0	0	0	0	0	0	1	8566	407	15	4		4	LCE1C	1	152805374	Silent	SNP	A	C3N-00549_TP	44579	152805374	96151048	24	16214											
ADAR	0	.	GRCh38	chr1	154586239	154586239	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcaacagtgccccttgCaggcccagcacgttccagcg	7	7	12	15	2	1	0	1	0	0	0	2	0	2	0	4	2	5	3	4	2	1	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.3144G>T	p.=	p.L1048L	ENST00000368474	12/15	388	209	179	290	290	0	strelka-varscan-mutect	ADAR,synonymous_variant,p.=,ENST00000368474,NM_001111.4,NM_015840.3,NM_015841.3;ADAR,synonymous_variant,p.=,ENST00000368471,NM_001193495.1,NM_001025107.2;ADAR,synonymous_variant,p.=,ENST00000529168,;ADAR,non_coding_transcript_exon_variant,,ENST00000534279,;ADAR,non_coding_transcript_exon_variant,,ENST00000530954,;ADAR,upstream_gene_variant,,ENST00000492630,;	A	ENST00000368474	Transcript	synonymous_variant	3344/6625	3144/3681	1048/1226	L	ctG/ctT		1		-1	ADAR	HGNC	HGNC:225	protein_coding	YES	CCDS1071.1	ENSP00000357459	P55265		UPI000045626B	NM_001111.4,NM_015840.3,NM_015841.3			12/15		PROSITE_profiles:PS50141,hmmpanther:PTHR10910:SF107,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	51	154586239	154586239	C	A	1	0	0	0	0	0	0	0	1	325	697	25	2		2	ADAR	1	154586239	Silent	SNP	C	C3N-00549_TP	1780865	154586239	94370183	25	16215											
BCAN	0	.	GRCh38	chr1	156647093	156647093	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggcgctgagcgagctgcgCcccaacgactcaggtatcta	8	7	12	14	4	2	1	1	1	1	0	2	3	2	1	2	2	4	3	2	2	3	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.384C>A	p.=	p.R128R	ENST00000329117	3/14	129	76	53	78	78	0	strelka-varscan-mutect	BCAN,synonymous_variant,p.=,ENST00000329117,NM_021948.4;BCAN,synonymous_variant,p.=,ENST00000361588,NM_198427.1;BCAN,synonymous_variant,p.=,ENST00000457777,;BCAN,synonymous_variant,p.=,ENST00000441358,;BCAN,intron_variant,,ENST00000424639,;RP11-284F21.7,non_coding_transcript_exon_variant,,ENST00000448869,;RP11-284F21.10,upstream_gene_variant,,ENST00000605886,;BCAN,synonymous_variant,p.=,ENST00000479949,;BCAN,upstream_gene_variant,,ENST00000491823,;	A	ENST00000329117	Transcript	synonymous_variant	720/3466	384/2736	128/911	R	cgC/cgA		1		1	BCAN	HGNC	HGNC:23059	protein_coding	YES	CCDS1149.1	ENSP00000331210	Q96GW7		UPI000006F0E9	NM_021948.4			3/14		PROSITE_profiles:PS50835,hmmpanther:PTHR22804,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	51	156647093	156647093	C	A	1	0	0	0	0	0	0	0	1	1492	726	26	2		2	BCAN	1	156647093	Silent	SNP	C	C3N-00549_TP	2060854	156647093	92309329	26	16216											
NES	0	.	GRCh38	chr1	156670553	156670553	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcactggtggtacatccTcctcagcttcctctgacccc	6	10	7	18	0	2	1	1	1	1	0	5	1	5	1	6	2	3	3	6	2	1	2	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.3635A>G	p.Glu1212Gly	p.E1212G	ENST00000368223	4/4	94	52	42	67	67	0	strelka-varscan-mutect	NES,missense_variant,p.Glu1212Gly,ENST00000368223,NM_006617.1;	C	ENST00000368223	Transcript	missense_variant	3768/5558	3635/4866	1212/1621	E/G	gAg/gGg		1		-1	NES	HGNC	HGNC:7756	protein_coding	YES	CCDS1151.1	ENSP00000357206	P48681		UPI0000213DC0	NM_006617.1	tolerated(0.06)		4/4																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	51	156670553	156670553	T	C	1	0	0	0	0	1	0	0	0	10372	1551	54	5		5	NES	1	156670553	Missense_Mutation	SNP	T	C3N-00549_TP	23460	156670553	92285869	27	16217											
OR10J3	0	.	GRCh38	chr1	159313929	159313929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatgaccactgtgaggtggGaggcgcaggtggcaaaggcc	9	6	18	8	1	0	3	0	3	0	0	0	4	0	4	2	6	0	2	2	6	1	0			C3N-00549_TP	C3N-00549_NB	G	G																c.731C>A	p.Ser244Tyr	p.S244Y	ENST00000332217	1/1	410	237	173	330	330	0	strelka-varscan-mutect	OR10J3,missense_variant,p.Ser244Tyr,ENST00000332217,NM_001004467.1;	T	ENST00000332217	Transcript	missense_variant	731/990	731/990	244/329	S/Y	tCc/tAc	COSM5378101	1		-1	OR10J3	HGNC	HGNC:14992	protein_coding	YES	CCDS30909.1	ENSP00000331789	Q5JRS4		UPI0000441EEF	NM_001004467.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF28,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	51	159313929	159313929	G	T	1	0	0	0	0	1	0	0	0	10988	1174	41	2		2	OR10J3	1	159313929	Missense_Mutation	SNP	G	C3N-00549_TP	2643376	159313929	89642493	28	16218											
OR10J3	0	.	GRCh38	chr1	159314120	159314120	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcaggtgtctcacatcAcagaagaagtgggagatgac	13	8	12	8	0	3	4	3	1	1	3	4	5	3	4	0	2	1	1	0	2	2	1			C3N-00549_TP	C3N-00549_NB	A	A																c.540T>A	p.Cys180Ter	p.C180*	ENST00000332217	1/1	281	165	116	204	204	0	strelka-varscan-mutect	OR10J3,stop_gained,p.Cys180Ter,ENST00000332217,NM_001004467.1;	T	ENST00000332217	Transcript	stop_gained	540/990	540/990	180/329	C/*	tgT/tgA	COSM675970	1		-1	OR10J3	HGNC	HGNC:14992	protein_coding	YES	CCDS30909.1	ENSP00000331789	Q5JRS4		UPI0000441EEF	NM_001004467.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF28,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						HIGH	1	SNV			1	1										PASS		.	.												T	4	4	51	159314120	159314120	A	T	1	0	0	0	0	0	1	0	0	10988	157	6	4		4	OR10J3	1	159314120	Nonsense_Mutation	SNP	A	C3N-00549_TP	191	159314120	89642302	29	16219											
TEX35	0	.	GRCh38	chr1	178522419	178522419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgctgtgcctgccccaaaGtcccagactgagggaaggtg	9	6	13	13	1	0	2	0	1	0	1	1	3	1	3	4	2	2	1	4	2	2	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.681G>T	p.Lys227Asn	p.K227N	ENST00000319416	9/9	163	108	55	98	98	0	strelka-varscan-mutect	TEX35,missense_variant,p.Lys227Asn,ENST00000319416,NM_032126.4;TEX35,3_prime_UTR_variant,,ENST00000367642,;TEX35,3_prime_UTR_variant,,ENST00000367641,;TEX35,intron_variant,,ENST00000367639,NM_001170722.1,NM_001170724.1;TEX35,downstream_gene_variant,,ENST00000367643,NM_001170723.1;TEX35,downstream_gene_variant,,ENST00000442872,;TEX35,intron_variant,,ENST00000419909,;	T	ENST00000319416	Transcript	missense_variant	793/1023	681/702	227/233	K/N	aaG/aaT		1		1	TEX35	HGNC	HGNC:25366	protein_coding	YES	CCDS1323.1	ENSP00000323795	Q5T0J7		UPI00001405CF	NM_032126.4	tolerated_low_confidence(0.22)		9/9																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	178522419	178522419	G	T	1	0	0	0	0	1	0	0	0	16211	1020	36	2		2	TEX35	1	178522419	Missense_Mutation	SNP	G	C3N-00549_TP	19208299	178522419	70434003	30	16220											
CACNA1E	0	.	GRCh38	chr1	181739253	181739253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggtggcctttgctctggCgtaagtgactcttttcatat	6	17	10	8	1	3	1	1	1	2	0	3	1	3	1	1	3	1	2	1	3	2	6			C3N-00549_TP	C3N-00549_NB	C	C																c.3719C>T	p.Ala1240Val	p.A1240V	ENST00000367573	25/48	157	104	53	130	130	0	strelka-varscan-mutect	CACNA1E,missense_variant,p.Ala1221Val,ENST00000621791,NM_001205294.1;CACNA1E,missense_variant,p.Ala1240Val,ENST00000621551,;CACNA1E,missense_variant,p.Ala1240Val,ENST00000367567,;CACNA1E,missense_variant,p.Ala1221Val,ENST00000358338,;CACNA1E,missense_variant,p.Ala1240Val,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Ala1240Val,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Ala1239Val,ENST00000357570,;CACNA1E,missense_variant,p.Ala1221Val,ENST00000360108,;	T	ENST00000367573	Transcript	missense_variant,splice_region_variant	3719/7067	3719/6942	1240/2313	A/V	gCg/gTg	COSM3934304,COSM3934305,COSM3934306,COSM5081247,COSM5081248	1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1	deleterious(0)		25/48		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324											1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1	1										PASS		.	.												T	3	4	51	181739253	181739253	C	T	1	0	0	0	0	1	0	0	0	2230	782	27	1		1	CACNA1E	1	181739253	Missense_Mutation	SNP	C	C3N-00549_TP	3216834	181739253	67217169	31	16221											
DHX9	0	.	GRCh38	chr1	182879333	182879333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaacttctgcgtctaggagGaattggccaatttctggcca	11	11	10	9	1	3	0	0	0	3	0	3	2	3	2	2	4	2	0	2	4	5	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.2435G>A	p.Gly812Glu	p.G812E	ENST00000367549	21/28	88	54	34	112	112	0	strelka-varscan-mutect	DHX9,missense_variant,p.Gly812Glu,ENST00000367549,NM_001357.4;DHX9,non_coding_transcript_exon_variant,,ENST00000485081,;DHX9,non_coding_transcript_exon_variant,,ENST00000474446,;DHX9,upstream_gene_variant,,ENST00000473076,;DHX9,downstream_gene_variant,,ENST00000490519,;	A	ENST00000367549	Transcript	missense_variant	2545/4240	2435/3813	812/1270	G/E	gGa/gAa		1		1	DHX9	HGNC	HGNC:2750	protein_coding	YES	CCDS41444.1	ENSP00000356520	Q08211		UPI00001AEF15	NM_001357.4	tolerated(0.29)		21/28		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF119,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	182879333	182879333	G	A	1	0	0	0	0	1	0	0	0	4320	1174	41	3		3	DHX9	1	182879333	Missense_Mutation	SNP	G	C3N-00549_TP	1140080	182879333	66077089	32	16222											
NMNAT2	0	.	GRCh38	chr1	183290163	183290163	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgttccaacacgctgcAggtcgtctgccaggtgtcct	5	11	13	12	2	1	0	0	0	1	0	4	0	3	0	3	3	3	3	3	3	1	1	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.286T>A	p.Cys96Ser	p.C96S	ENST00000287713	4/11	154	105	49	155	154	1	strelka-varscan-mutect	NMNAT2,missense_variant,p.Cys96Ser,ENST00000287713,NM_015039.3;NMNAT2,missense_variant,p.Cys91Ser,ENST00000294868,NM_170706.3;NMNAT2,non_coding_transcript_exon_variant,,ENST00000473046,;	T	ENST00000287713	Transcript	missense_variant	621/5663	286/924	96/307	C/S	Tgc/Agc		1		-1	NMNAT2	HGNC	HGNC:16789	protein_coding	YES	CCDS1353.1	ENSP00000287713	Q9BZQ4		UPI00000706AB	NM_015039.3	deleterious(0.01)		4/11		Gene3D:3.40.50.620,Pfam_domain:PF01467,hmmpanther:PTHR12039,hmmpanther:PTHR12039:SF2,Superfamily_domains:SSF52374																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	183290163	183290163	A	T	1	0	0	0	0	1	0	0	0	10538	188	7	4		4	NMNAT2	1	183290163	Missense_Mutation	SNP	A	C3N-00549_TP	410830	183290163	65666259	33	16223											
BRINP3	0	.	GRCh38	chr1	190098874	190098874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaagccaatatagtgatcgGtggactcggcgacttcaggc	11	8	12	10	3	1	1	1	1	0	0	3	3	1	2	1	4	1	0	1	4	4	3	rs760035565		C3N-00549_TP	C3N-00549_NB	G	G																c.1445C>A	p.Thr482Asn	p.T482N	ENST00000367462	8/8	313	184	129	304	304	0	strelka-varscan-mutect	BRINP3,missense_variant,p.Thr482Asn,ENST00000367462,NM_199051.1;	T	ENST00000367462	Transcript	missense_variant	1930/3142	1445/2301	482/766	T/N	aCc/aAc	rs760035565,COSM5678014	1		-1	BRINP3	HGNC	HGNC:22393	protein_coding	YES	CCDS1373.1	ENSP00000356432	Q76B58		UPI00001C1D9A	NM_199051.1	tolerated(0.13)		8/8		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs760035565	.												T	3	4	51	190098874	190098874	G	T	1	0	0	0	0	1	0	0	0	1687	1261	44	2		2	BRINP3	1	190098874	Missense_Mutation	SNP	G	C3N-00549_TP	6808711	190098874	58857548	34	16224											
FAM71A	0	.	GRCh38	chr1	212625555	212625555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatccaaagcctccacatGgtctctgaggtgtgtggggc	8	9	13	11	0	1	1	0	1	1	0	4	1	3	1	3	4	2	1	3	4	1	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.678G>T	p.Met226Ile	p.M226I	ENST00000294829	1/1	203	108	95	176	176	0	strelka-varscan-mutect	FAM71A,missense_variant,p.Met226Ile,ENST00000294829,NM_153606.3;ATF3,downstream_gene_variant,,ENST00000341491,NM_001674.3;ATF3,downstream_gene_variant,,ENST00000613954,NM_001206488.2,NM_001206484.2;ATF3,downstream_gene_variant,,ENST00000366987,NM_001030287.3;RP11-338C15.5,non_coding_transcript_exon_variant,,ENST00000427949,;ATF3,downstream_gene_variant,,ENST00000492118,;	T	ENST00000294829	Transcript	missense_variant	1082/2305	678/1785	226/594	M/I	atG/atT		1		1	FAM71A	HGNC	HGNC:26541	protein_coding	YES	CCDS1507.1	ENSP00000294829	Q8IYT1		UPI000013E1C2	NM_153606.3	tolerated(0.19)		1/1		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF9																	MODERATE		SNV				1										PASS		.	.												T	3	4	51	212625555	212625555	G	T	1	0	0	0	0	1	0	0	0	5471	1348	47	2		2	FAM71A	1	212625555	Missense_Mutation	SNP	G	C3N-00549_TP	22526681	212625555	36330867	35	16225											
RAB3GAP2	0	.	GRCh38	chr1	220210826	220210826	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaagcgtacataacctGaagtaaaacccaccacaatg	17	7	7	10	1	0	2	0	1	0	1	0	2	0	2	3	0	4	3	3	0	8	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.485C>A	p.Ser162Ter	p.S162*	ENST00000358951	6/35	661	411	250	556	556	0	strelka-varscan-mutect	RAB3GAP2,stop_gained,p.Ser162Ter,ENST00000358951,NM_012414.3;RAB3GAP2,stop_gained,p.Ser64Ter,ENST00000484658,;RAB3GAP2,intron_variant,,ENST00000478976,;RAB3GAP2,3_prime_UTR_variant,,ENST00000474178,;RAB3GAP2,intron_variant,,ENST00000237724,;RP11-568G11.4,downstream_gene_variant,,ENST00000604232,;	T	ENST00000358951	Transcript	stop_gained	602/7257	485/4182	162/1393	S/*	tCa/tAa		1		-1	RAB3GAP2	HGNC	HGNC:17168	protein_coding	YES	CCDS31028.1	ENSP00000351832	Q9H2M9		UPI0000072269	NM_012414.3			6/35		Pfam_domain:PF14655,hmmpanther:PTHR12472																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	51	220210826	220210826	G	T	1	0	0	0	0	0	1	0	0	13095	1294	45	2		2	RAB3GAP2	1	220210826	Nonsense_Mutation	SNP	G	C3N-00549_TP	7585271	220210826	28745596	36	16226											
DEGS1	0	.	GRCh38	chr1	224189762	224189762	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgactctggctattcatGagattgcccacaatgctgcc	10	11	8	12	0	2	2	1	2	1	1	2	3	2	2	2	1	3	2	2	1	3	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.268G>T	p.Glu90Ter	p.E90*	ENST00000323699	2/3	231	137	94	157	157	0	strelka-varscan-mutect	DEGS1,stop_gained,p.Glu90Ter,ENST00000323699,NM_003676.3;DEGS1,stop_gained,p.Glu90Ter,ENST00000391877,;DEGS1,stop_gained,p.Glu69Ter,ENST00000415210,;DEGS1,non_coding_transcript_exon_variant,,ENST00000465848,;DEGS1,upstream_gene_variant,,ENST00000498813,;	T	ENST00000323699	Transcript	stop_gained	434/2101	268/972	90/323	E/*	Gag/Tag		1		1	DEGS1	HGNC	HGNC:13709	protein_coding	YES	CCDS1540.1	ENSP00000316476	O15121	A0A024R3P1	UPI000007137B	NM_003676.3			2/3		hmmpanther:PTHR12879:SF2,hmmpanther:PTHR12879,Pfam_domain:PF00487,PIRSF_domain:PIRSF017228																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	51	224189762	224189762	G	T	1	0	0	0	0	0	1	0	0	4227	1291	45	2		2	DEGS1	1	224189762	Nonsense_Mutation	SNP	G	C3N-00549_TP	3978936	224189762	24766660	37	16227											
RYR2	0	.	GRCh38	chr1	237503434	237503434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagaaagaacttacacaCgcgacctgctgggccccaca	14	4	9	14	2	0	2	0	0	0	2	0	3	0	2	3	1	4	2	3	1	4	1	rs765102386		C3N-00549_TP	C3N-00549_NB	C	C																c.2542C>A	p.Arg848Ser	p.R848S	ENST00000366574	22/105	296	181	115	223	223	0	strelka-varscan-mutect	RYR2,missense_variant,p.Arg848Ser,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Arg832Ser,ENST00000360064,;	A	ENST00000366574	Transcript	missense_variant	2859/16562	2542/14904	848/4967	R/S	Cgc/Agc	rs765102386,COSM403302	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.07)		22/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs765102386	.												A	3	1	51	237503434	237503434	C	A	1	0	0	0	0	1	0	0	0	14029	536	19	1		1	RYR2	1	237503434	Missense_Mutation	SNP	C	C3N-00549_TP	13313672	237503434	11452988	38	16228											
RYR2	0	.	GRCh38	chr1	237589835	237589835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagtggctcaagtgggtaGgatgaactttggaaaggatg	11	10	17	3	0	1	1	1	1	0	0	1	5	1	5	0	6	1	2	0	6	4	2	rs775350665		C3N-00549_TP	C3N-00549_NB	G	G																c.3641G>T	p.Arg1214Met	p.R1214M	ENST00000366574	30/105	330	194	136	259	259	0	strelka-varscan-mutect	RYR2,missense_variant,p.Arg1214Met,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Arg1198Met,ENST00000360064,;	T	ENST00000366574	Transcript	missense_variant	3958/16562	3641/14904	1214/4967	R/M	aGg/aTg	rs775350665	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		30/105		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,SMART_domains:SM00449																	MODERATE	1	SNV	1			1										PASS		rs775350665	.												T	3	4	51	237589835	237589835	G	T	1	0	0	0	0	1	0	0	0	14029	1000	35	2		2	RYR2	1	237589835	Missense_Mutation	SNP	G	C3N-00549_TP	86401	237589835	11366587	39	16229											
RYR2	0	.	GRCh38	chr1	237614745	237614745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagctcagtgtggacgatGcaaagctgcaaggagctggt	12	7	15	7	1	1	1	1	0	0	1	1	4	1	3	0	3	5	5	0	3	3	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.5617G>A	p.Ala1873Thr	p.A1873T	ENST00000366574	37/105	165	103	62	91	91	0	strelka-varscan-mutect	RYR2,missense_variant,p.Ala1873Thr,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Ala1857Thr,ENST00000360064,;	A	ENST00000366574	Transcript	missense_variant	5934/16562	5617/14904	1873/4967	A/T	Gca/Aca		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.25)		37/105		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1312516879	.												A	3	1	51	237614745	237614745	G	A	1	0	0	0	0	1	0	0	0	14029	1319	46	3		3	RYR2	1	237614745	Missense_Mutation	SNP	G	C3N-00549_TP	24910	237614745	11341677	40	16230											
NLRP3	0	.	GRCh38	chr1	247423289	247423289	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaagacagcattgaaGaggagtggatgggtttactg	12	8	16	5	0	0	3	0	1	0	2	0	6	0	6	1	4	2	2	1	4	3	3	rs763971331		C3N-00549_TP	C3N-00549_NB	G	G																c.343G>T	p.Glu115Ter	p.E115*	ENST00000336119	2/9	625	392	233	532	532	0	strelka-varscan-mutect	NLRP3,stop_gained,p.Glu115Ter,ENST00000366497,NM_001127461.2;NLRP3,stop_gained,p.Glu115Ter,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,stop_gained,p.Glu115Ter,ENST00000366496,;NLRP3,stop_gained,p.Glu115Ter,ENST00000391828,NM_001079821.2;NLRP3,stop_gained,p.Glu115Ter,ENST00000348069,NM_183395.2;NLRP3,stop_gained,p.Glu115Ter,ENST00000391827,NM_001127462.2;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	T	ENST00000336119	Transcript	stop_gained	1089/4170	343/3111	115/1036	E/*	Gag/Tag	rs763971331	1		1	NLRP3	HGNC	HGNC:16400	protein_coding	YES	CCDS1632.1	ENSP00000337383	Q96P20		UPI00001CE3AD	NM_004895.4,NM_001243133.1			2/9																			HIGH	1	SNV	1			1										PASS		rs763971331	.												T	4	4	51	247423289	247423289	G	T	1	0	0	0	0	0	1	0	0	10516	943	33	2		2	NLRP3	1	247423289	Nonsense_Mutation	SNP	G	C3N-00549_TP	9808544	247423289	1533133	41	16231											
OR2B11	0	.	GRCh38	chr1	247451797	247451797	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgactgaggaagatgtacatGgggctgtggagttgaggatc	10	10	17	4	0	0	4	0	3	0	1	1	7	0	7	0	5	1	3	0	5	2	2			C3N-00549_TP	C3N-00549_NB	G	G																c.186C>A	p.=	p.P62P	ENST00000318749	1/1	254	133	121	175	175	0	strelka-varscan-mutect	OR2B11,synonymous_variant,p.=,ENST00000318749,NM_001004492.1;NLRP3,downstream_gene_variant,,ENST00000366497,NM_001127461.2;NLRP3,downstream_gene_variant,,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000391828,NM_001079821.2;NLRP3,downstream_gene_variant,,ENST00000348069,NM_183395.2;NLRP3,downstream_gene_variant,,ENST00000391827,NM_001127462.2;NLRP3,downstream_gene_variant,,ENST00000532083,;	T	ENST00000318749	Transcript	synonymous_variant	186/954	186/954	62/317	P	ccC/ccA	COSM5600110,COSM680716	1		-1	OR2B11	HGNC	HGNC:31249	protein_coding	YES	CCDS31090.1	ENSP00000325682	Q5JQS5	A0A126GVY5	UPI0000418F50	NM_001004492.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF112,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											1,1						LOW		SNV			1,1	1										PASS		.	.												T	2	4	51	247451797	247451797	G	T	1	0	0	0	0	0	0	0	1	11067	1335	47	2		2	OR2B11	1	247451797	Silent	SNP	G	C3N-00549_TP	28508	247451797	1504625	42	16232											
OR2AK2	0	.	GRCh38	chr1	247965976	247965976	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtatgagtatacagtcctCctgagtggacttattatctt	10	15	8	8	0	1	2	0	2	1	0	3	3	3	3	2	1	1	2	2	1	5	6			C3N-00549_TP	C3N-00549_NB	C	C																c.645C>A	p.=	p.L215L	ENST00000366480	1/1	74	50	24	70	70	0	strelka-varscan-mutect	OR2AK2,synonymous_variant,p.=,ENST00000366480,NM_001004491.1;	A	ENST00000366480	Transcript	synonymous_variant	744/1107	645/1008	215/335	L	ctC/ctA	COSM4503655	1		1	OR2AK2	HGNC	HGNC:19569	protein_coding	YES	CCDS31102.1	ENSP00000355436	Q8NG84		UPI00003B2873	NM_001004491.1			1/1		Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF299,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						LOW	1	SNV			1	1										PASS		rs1316936520	.												A	2	1	51	247965976	247965976	C	A	1	0	0	0	0	0	0	0	1	11064	842	30	2		2	OR2AK2	1	247965976	Silent	SNP	C	C3N-00549_TP	514179	247965976	990446	43	16233											
OR2L2	0	.	GRCh38	chr1	248038315	248038315	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatttcatcttattggggctGttcccacaatcaagaattgg	10	14	9	8	0	3	1	2	0	1	1	4	2	4	1	1	3	0	2	1	3	4	5	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.48G>T	p.=	p.L16L	ENST00000366479	1/1	101	61	40	93	93	0	strelka-varscan-mutect	OR2L2,synonymous_variant,p.=,ENST00000366479,NM_001004686.2;	T	ENST00000366479	Transcript	synonymous_variant	48/939	48/939	16/312	L	ctG/ctT		1		1	OR2L2	HGNC	HGNC:8266	protein_coding	YES	CCDS31103.1	ENSP00000355435	Q8NH16	A0A126GW34	UPI0000061EAA	NM_001004686.2			1/1		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF189,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs963247224	.												T	2	4	51	248038315	248038315	G	T	1	0	0	0	0	0	0	0	1	11085	1364	48	2		2	OR2L2	1	248038315	Silent	SNP	G	C3N-00549_TP	72339	248038315	918107	44	16234											
OR14C36	0	.	GRCh38	chr1	248348917	248348917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcattgtgaccgtcaccaCctgtgacagcagccttcaca	9	9	7	16	1	3	2	3	2	0	0	3	2	3	2	5	0	2	1	5	0	0	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.143C>A	p.Thr48Asn	p.T48N	ENST00000317861	1/1	162	109	53	138	138	0	strelka-varscan-mutect	OR14C36,missense_variant,p.Thr48Asn,ENST00000317861,NM_001001918.1;	A	ENST00000317861	Transcript	missense_variant	143/939	143/939	48/312	T/N	aCc/aAc		1		1	OR14C36	HGNC	HGNC:15026	protein_coding	YES	CCDS31112.1	ENSP00000324534	Q8NHC7		UPI0000041CB1	NM_001001918.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF180,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	51	248348917	248348917	C	A	1	0	0	0	0	1	0	0	0	11023	507	18	2		2	OR14C36	1	248348917	Missense_Mutation	SNP	C	C3N-00549_TP	310602	248348917	607505	45	16235											
OR2T35	0	.	GRCh38	chr1	248638570	248638570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcgccggccctcagcaGagttcatcctgtggacagtc	6	10	11	14	2	2	1	2	0	0	1	4	2	3	2	3	2	2	2	3	2	0	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.689C>A	p.Ser230Tyr	p.S230Y	ENST00000317450	1/1	633	502	131	630	629	1	strelka-varscan-mutect	OR2T35,missense_variant,p.Ser230Tyr,ENST00000317450,NM_001001827.1;	T	ENST00000317450	Transcript	missense_variant	689/972	689/972	230/323	S/Y	tCt/tAt		1		-1	OR2T35	HGNC	HGNC:31257	protein_coding	YES	CCDS31123.1	ENSP00000324369	Q8NGX2		UPI0000061ED3	NM_001001827.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF18,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	51	248638570	248638570	G	T	1	0	0	0	0	1	0	0	0	11103	942	33	2		2	OR2T35	1	248638570	Missense_Mutation	SNP	G	C3N-00549_TP	289653	248638570	317852	46	16236											
OR2T35	0	.	GRCh38	chr1	248638607	248638607	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcaggaggatgtgcgtgtAggacacagagatgacagata	14	7	15	5	1	1	3	1	1	0	2	1	7	1	6	0	3	1	1	0	3	2	2	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.652T>A	p.Tyr218Asn	p.Y218N	ENST00000317450	1/1	981	747	234	969	969	0	strelka-varscan-mutect	OR2T35,missense_variant,p.Tyr218Asn,ENST00000317450,NM_001001827.1;	T	ENST00000317450	Transcript	missense_variant	652/972	652/972	218/323	Y/N	Tac/Aac		1		-1	OR2T35	HGNC	HGNC:31257	protein_coding	YES	CCDS31123.1	ENSP00000324369	Q8NGX2		UPI0000061ED3	NM_001001827.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF18,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	51	248638607	248638607	A	T	1	0	0	0	0	1	0	0	0	11103	420	15	4		4	OR2T35	1	248638607	Missense_Mutation	SNP	A	C3N-00549_TP	37	248638607	317815	47	16237											
PXDN	0	.	GRCh38	chr2	1649510	1649510	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaaggcggtcagcgaggcgCcccacatggggtgctgcagg	7	4	18	12	4	1	0	1	0	0	0	1	2	1	0	2	6	3	2	2	6	1	0	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.2270G>T	p.Gly757Val	p.G757V	ENST00000252804	17/23	454	261	193	428	428	0	strelka-varscan-mutect	PXDN,missense_variant,p.Gly757Val,ENST00000252804,NM_012293.2;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,non_coding_transcript_exon_variant,,ENST00000465809,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,non_coding_transcript_exon_variant,,ENST00000493779,;PXDN,intron_variant,,ENST00000478155,;	A	ENST00000252804	Transcript	missense_variant	2321/6808	2270/4440	757/1479	G/V	gGc/gTc		1		-1	PXDN	HGNC	HGNC:14966	protein_coding	YES	CCDS46221.1	ENSP00000252804	Q92626		UPI00001C1DC2	NM_012293.2	deleterious(0)		17/23		Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF75,Superfamily_domains:SSF48113																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	1649510	1649510	C	A	1	0	0	0	0	1	0	0	0	13001	739	26	2		2	PXDN	2	1649510	Missense_Mutation	SNP	C	C3N-00549_TP		1649510	240544019	48	16238											
NOL10	0	.	GRCh38	chr2	10689824	10689824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacttgccgcagctgaggCtgtaaatcttcacctcattg	8	11	11	11	1	3	1	2	1	1	0	3	2	3	2	2	2	2	4	2	2	2	4	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.38G>T	p.Ser13Ile	p.S13I	ENST00000381685	1/21	198	141	57	190	190	0	strelka-varscan-mutect	NOL10,missense_variant,p.Ser13Ile,ENST00000538384,NM_001261392.1;NOL10,missense_variant,p.Ser13Ile,ENST00000345985,NM_001261394.1;NOL10,missense_variant,p.Ser13Ile,ENST00000381685,NM_024894.3;RN7SL832P,upstream_gene_variant,,ENST00000607781,;Metazoa_SRP,upstream_gene_variant,,ENST00000487171,;NOL10,non_coding_transcript_exon_variant,,ENST00000473087,;	A	ENST00000381685	Transcript	missense_variant	144/2589	38/2067	13/688	S/I	aGc/aTc		1		-1	NOL10	HGNC	HGNC:25862	protein_coding	YES	CCDS1673.2	ENSP00000371101	Q9BSC4		UPI000006F6E2	NM_024894.3	deleterious(0)		1/21		hmmpanther:PTHR14927,hmmpanther:PTHR14927:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	10689824	10689824	C	A	1	0	0	0	0	1	0	0	0	10563	797	28	2		2	NOL10	2	10689824	Missense_Mutation	SNP	C	C3N-00549_TP	9040314	10689824	231503705	49	16239											
VSNL1	0	.	GRCh38	chr2	17649427	17649427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttctttccttatggagaCgcctccaagtttgcccagca	8	12	8	13	1	1	1	0	0	1	1	3	2	3	1	4	1	2	3	4	1	2	4	rs148418595		C3N-00549_TP	C3N-00549_NB	C	C																c.180C>A	p.Asp60Glu	p.D60E	ENST00000406397	3/4	290	164	126	226	226	0	strelka-varscan-mutect	VSNL1,missense_variant,p.Asp60Glu,ENST00000406397,;VSNL1,missense_variant,p.Asp60Glu,ENST00000295156,NM_003385.4;VSNL1,missense_variant,p.Asp60Glu,ENST00000404666,;VSNL1,missense_variant,p.Asp60Glu,ENST00000457525,;VSNL1,missense_variant,p.Asp60Glu,ENST00000451533,;	A	ENST00000406397	Transcript	missense_variant	705/2725	180/576	60/191	D/E	gaC/gaA	rs148418595,COSM5552382	1		1	VSNL1	HGNC	HGNC:12722	protein_coding	YES	CCDS1689.1	ENSP00000384719	P62760		UPI0000001467		deleterious(0.04)		3/4		PROSITE_profiles:PS50222,hmmpanther:PTHR23055,hmmpanther:PTHR23055:SF101,Gene3D:1.10.238.10,Superfamily_domains:SSF47473											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs148418595	.												A	3	1	51	17649427	17649427	C	A	1	0	0	0	0	1	0	0	0	17778	535	19	1		1	VSNL1	2	17649427	Missense_Mutation	SNP	C	C3N-00549_TP	6959603	17649427	224544102	50	16240											
ASXL2	0	.	GRCh38	chr2	25743405	25743405	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtcagtggaaccgtttTcatttcaactttggtgagag	9	14	11	7	1	3	1	3	1	0	1	3	3	3	2	1	2	3	2	1	2	2	4	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.2932A>G	p.Lys978Glu	p.K978E	ENST00000435504	13/13	280	165	115	233	233	0	strelka-varscan-mutect	ASXL2,missense_variant,p.Lys978Glu,ENST00000435504,NM_018263.4;ASXL2,missense_variant,p.Lys950Glu,ENST00000336112,;ASXL2,intron_variant,,ENST00000404843,;	C	ENST00000435504	Transcript	missense_variant	3226/12878	2932/4308	978/1435	K/E	Aaa/Gaa		1		-1	ASXL2	HGNC	HGNC:23805	protein_coding			ENSP00000391447	Q76L83		UPI00001DFBE8	NM_018263.4	deleterious(0)		13/13		hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	51	25743405	25743405	T	C	1	0	0	0	0	1	0	0	0	1215	1792	62	5		5	ASXL2	2	25743405	Missense_Mutation	SNP	T	C3N-00549_TP	8093978	25743405	216450124	51	16241											
ASXL2	0	.	GRCh38	chr2	25744300	25744300	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaggcggctgcagcagcTgcggcggcagcggcagctgc	6	4	18	13	4	0	1	0	1	0	0	0	1	0	1	0	5	7	7	0	5	0	0	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.1257A>C	p.=	p.A419A	ENST00000404843	9/10	258	145	113	214	214	0	strelka-varscan-mutect	ASXL2,synonymous_variant,p.=,ENST00000435504,NM_018263.4;ASXL2,synonymous_variant,p.=,ENST00000336112,;ASXL2,synonymous_variant,p.=,ENST00000404843,;	G	ENST00000404843	Transcript	synonymous_variant	1695/3299	1257/2757	419/918	A	gcA/gcC		1		-1	ASXL2	HGNC	HGNC:23805	protein_coding	YES		ENSP00000383920	Q76L83		UPI0000246C78				9/10		Low_complexity_(Seg):seg,hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578																	LOW	1	SNV	1			1										PASS		rs764128572	.												G	2	3	51	25744300	25744300	T	G	1	0	0	0	0	0	0	0	1	1215	1567	55	5		5	ASXL2	2	25744300	Silent	SNP	T	C3N-00549_TP	895	25744300	216449229	52	16242											
EMILIN1	0	.	GRCh38	chr2	27079112	27079112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctctgctgcctgctgaCggcagctgcaggggccgcca	5	7	13	16	2	1	1	0	1	1	0	1	1	1	1	4	3	6	5	4	3	1	1	rs777527430		C3N-00549_TP	C3N-00549_NB	C	C																c.47C>T	p.Thr16Met	p.T16M	ENST00000380320	1/8	129	82	47	155	155	0	strelka-varscan-mutect	EMILIN1,missense_variant,p.Thr16Met,ENST00000380320,NM_007046.3;EMILIN1,upstream_gene_variant,,ENST00000433140,;	T	ENST00000380320	Transcript	missense_variant	546/3943	47/3051	16/1016	T/M	aCg/aTg	rs777527430	1		1	EMILIN1	HGNC	HGNC:19880	protein_coding	YES	CCDS1733.1	ENSP00000369677		A0A0C4DFX3	UPI0000073B0E	NM_007046.3	deleterious(0.01)		1/8		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF1																	MODERATE	1	SNV	1			1										PASS		rs777527430	.												T	3	4	51	27079112	27079112	C	T	1	0	0	0	0	1	0	0	0	4936	536	19	1		1	EMILIN1	2	27079112	Missense_Mutation	SNP	C	C3N-00549_TP	1334812	27079112	215114417	53	16243											
C2orf71	0	.	GRCh38	chr2	29072034	29072034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccccagcatcctcagaCtctccgtgggactgaaagtt	9	9	9	14	1	2	2	1	1	1	1	5	3	4	3	4	1	1	2	4	1	1	1	rs369823170		C3N-00549_TP	C3N-00549_NB	C	C																c.2228G>T	p.Ser743Ile	p.S743I	ENST00000331664	1/2	240	142	98	178	178	0	strelka-varscan-mutect	C2orf71,missense_variant,p.Ser743Ile,ENST00000331664,NM_001029883.2;	A	ENST00000331664	Transcript	missense_variant	2228/7044	2228/3867	743/1288	S/I	aGt/aTt	rs369823170	1		-1	C2orf71	HGNC	HGNC:34383	protein_coding	YES	CCDS42669.1	ENSP00000332809	A6NGG8		UPI0000251DD8	NM_001029883.2	deleterious(0.03)		1/2		Pfam_domain:PF15449,hmmpanther:PTHR22017																	MODERATE	1	SNV	2			1										PASS		rs369823170	.												A	3	1	51	29072034	29072034	C	A	1	0	0	0	0	1	0	0	0	2045	565	20	2		2	C2orf71	2	29072034	Missense_Mutation	SNP	C	C3N-00549_TP	1992922	29072034	213121495	54	16244											
VIT	0	.	GRCh38	chr2	36775069	36775069	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagcggatgtcagcctgggTaagctgcccactgcttacca	8	8	13	12	1	1	0	1	0	0	0	1	2	1	2	3	3	6	3	3	3	2	2	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.802+2T>A		p.X268_splice	ENST00000379242		164	102	62	152	152	0	strelka-varscan	VIT,splice_donor_variant,,ENST00000379242,NM_053276.3;VIT,splice_donor_variant,,ENST00000389975,NM_001177969.1;VIT,splice_donor_variant,,ENST00000497382,;VIT,splice_donor_variant,,ENST00000401530,NM_001177970.1;VIT,splice_donor_variant,,ENST00000464309,;VIT,intron_variant,,ENST00000379241,NM_001177971.1;VIT,intron_variant,,ENST00000404084,;	A	ENST00000379242	Transcript	splice_donor_variant	-/2810	802/2082	268/693				1		1	VIT	HGNC	HGNC:12697	protein_coding	YES	CCDS33180.1	ENSP00000368544	Q6UXI7		UPI000006E0F8	NM_053276.3				9/15																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	51	36775069	36775069	T	A	1	0	0	0	0	0	0	1	0	17718	1652	57	4		4	VIT	2	36775069	Splice_Site	SNP	T	C3N-00549_TP	7703035	36775069	205418460	55	16245											
SLC3A1	0	.	GRCh38	chr2	44304338	44304338	+	Frame_Shift_Del	DEL	G	G	-																															ggaaaatggcctaactggatGgtaagtcctcatgacagcag																								novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1332+1delG			ENST00000260649	7/10	324	196	128	266	266	0	sindel-varindel-pindel	SLC3A1,frameshift_variant,,ENST00000260649,NM_000341.3;SLC3A1,frameshift_variant,,ENST00000409229,;SLC3A1,frameshift_variant,,ENST00000409380,;SLC3A1,frameshift_variant,,ENST00000409387,;SLC3A1,frameshift_variant,,ENST00000611973,;SLC3A1,frameshift_variant,,ENST00000409741,;SLC3A1,frameshift_variant,,ENST00000409740,;SLC3A1,frameshift_variant,,ENST00000409294,;SLC3A1,downstream_gene_variant,,ENST00000410056,;SLC3A1,downstream_gene_variant,,ENST00000427285,;	-	ENST00000260649	Transcript	frameshift_variant,splice_region_variant	1408/2989	1332/2058	444/685	M/X	atG/at		1		1	SLC3A1	HGNC	HGNC:11025	protein_coding	YES	CCDS1819.1	ENSP00000260649	Q07837	A0A0S2Z4E1	UPI000013D0F2	NM_000341.3			7/10		Gene3D:3.20.20.80,Pfam_domain:PF00128,hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF73,SMART_domains:SM00642,Superfamily_domains:SSF51445																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	51	44304338	44304338	G	-	1	0	1	0	1	0	0	0	0	14904	1362	47	0		0	SLC3A1	2	44304338	Frame_Shift_Del	DEL	G	C3N-00549_TP	7529269	44304338	197889191	56	16246											
NRXN1	0	.	GRCh38	chr2	51028084	51028084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtagagcacgaggccgcGggcgctgcgagtcttgagct	8	6	17	10	5	1	2	0	1	1	1	1	5	1	2	1	2	3	4	1	2	2	2	rs201566733		C3N-00549_TP	C3N-00549_NB	G	G																c.190C>T	p.Arg64Cys	p.R64C	ENST00000404971	2/24	94	55	39	56	56	0	strelka-varscan	NRXN1,missense_variant,p.Arg64Cys,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Arg64Cys,ENST00000625672,;NRXN1,missense_variant,p.Arg64Cys,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Arg64Cys,ENST00000401669,;NRXN1,missense_variant,p.Arg64Cys,ENST00000405472,;NRXN1,missense_variant,p.Arg64Cys,ENST00000405581,;NRXN1,missense_variant,p.Arg64Cys,ENST00000630543,;NRXN1,missense_variant,p.Arg64Cys,ENST00000637511,;NRXN1,missense_variant,p.Arg64Cys,ENST00000628515,;NRXN1,missense_variant,p.Arg64Cys,ENST00000626899,;NRXN1,upstream_gene_variant,,ENST00000636066,;NRXN1,upstream_gene_variant,,ENST00000627198,;NRXN1,upstream_gene_variant,,ENST00000496792,;AC007682.1,upstream_gene_variant,,ENST00000440698,;NRXN1,downstream_gene_variant,,ENST00000635310,;NRXN1,downstream_gene_variant,,ENST00000635126,;NRXN1,downstream_gene_variant,,ENST00000636599,;NRXN1,upstream_gene_variant,,ENST00000637679,;NRXN1,downstream_gene_variant,,ENST00000638060,;NRXN1,downstream_gene_variant,,ENST00000637006,;	A	ENST00000404971	Transcript	missense_variant	1530/7578	190/4644	64/1547	R/C	Cgc/Tgc	rs201566733	1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	deleterious(0.02)		2/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	51028084	51028084	G	A	1	0	0	0	0	1	0	0	0	10724	1116	39	1		1	NRXN1	2	51028084	Missense_Mutation	SNP	G	C3N-00549_TP	6723746	51028084	191165445	57	16247											
OTX1	0	.	GRCh38	chr2	63055951	63055951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcggcagctacggccaaGgctaccctacgccctcctct	7	6	11	17	3	1	0	0	0	1	0	2	0	2	0	4	4	4	3	4	4	4	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.700G>T	p.Gly234Cys	p.G234C	ENST00000282549	5/5	410	234	176	335	335	0	strelka-varscan	OTX1,missense_variant,p.Gly234Cys,ENST00000282549,NM_014562.3;OTX1,missense_variant,p.Gly234Cys,ENST00000366671,NM_001199770.1;OTX1,3_prime_UTR_variant,,ENST00000405984,;OTX1,downstream_gene_variant,,ENST00000484066,;OTX1,downstream_gene_variant,,ENST00000477348,;OTX1,downstream_gene_variant,,ENST00000476383,;	T	ENST00000282549	Transcript	missense_variant	976/2861	700/1065	234/354	G/C	Ggc/Tgc		1		1	OTX1	HGNC	HGNC:8521	protein_coding	YES	CCDS1873.1	ENSP00000282549	P32242		UPI0000130F36	NM_014562.3	deleterious(0)		5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR24329:SF310,hmmpanther:PTHR24329,Pfam_domain:PF03529																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	63055951	63055951	G	T	1	0	0	0	0	1	0	0	0	11390	1000	35	2		2	OTX1	2	63055951	Missense_Mutation	SNP	G	C3N-00549_TP	12027867	63055951	179137578	58	16248											
FAM136A	0	.	GRCh38	chr2	70297464	70297464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgcaatgcatggtgcacCgggccaggcggtcctgtggc	5	8	16	12	3	0	0	0	0	0	0	1	0	1	0	3	5	3	4	3	5	1	1	rs368899781		C3N-00549_TP	C3N-00549_NB	C	C																c.242G>T	p.Arg81Leu	p.R81L	ENST00000037869	3/3	142	76	66	95	95	0	strelka-varscan	FAM136A,missense_variant,p.Arg81Leu,ENST00000037869,NM_032822.2;FAM136A,missense_variant,p.Arg188Leu,ENST00000430566,;FAM136A,missense_variant,p.Arg151Leu,ENST00000438759,;FAM136A,3_prime_UTR_variant,,ENST00000450256,;SNRPG,upstream_gene_variant,,ENST00000482975,;SNRPG,upstream_gene_variant,,ENST00000272348,NM_001317166.1,NM_001317171.1,NM_003096.2;SNRPG,upstream_gene_variant,,ENST00000454893,;SNRPG,upstream_gene_variant,,ENST00000438261,;SNRPG,upstream_gene_variant,,ENST00000449935,;SNRPG,upstream_gene_variant,,ENST00000413456,;AC022201.5,upstream_gene_variant,,ENST00000445084,;SNRPG,upstream_gene_variant,,ENST00000429728,;FAM136A,non_coding_transcript_exon_variant,,ENST00000460307,;FAM136A,downstream_gene_variant,,ENST00000498665,;SNRPG,upstream_gene_variant,,ENST00000480370,;SNRPG,upstream_gene_variant,,ENST00000488400,;	A	ENST00000037869	Transcript	missense_variant	321/1810	242/417	81/138	R/L	cGg/cTg	rs368899781	1		-1	FAM136A	HGNC	HGNC:25911	protein_coding	YES	CCDS1904.1	ENSP00000037869	Q96C01		UPI000006D92A	NM_032822.2	deleterious(0)		3/3		hmmpanther:PTHR21096,Pfam_domain:PF05811																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	70297464	70297464	C	A	1	0	0	0	0	1	0	0	0	5300	652	23	1		1	FAM136A	2	70297464	Missense_Mutation	SNP	C	C3N-00549_TP	7241513	70297464	171896065	59	16249											
SUCLG1	0	.	GRCh38	chr2	84441281	84441281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagttgggcccaattagcCttgtcttttcctggcgcagc	5	12	12	12	1	1	0	0	0	1	0	2	0	2	0	3	3	2	3	3	3	2	5	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.497G>T	p.Arg166Met	p.R166M	ENST00000393868	4/9	594	369	225	447	445	2	strelka-varscan	SUCLG1,missense_variant,p.Arg166Met,ENST00000393868,NM_003849.3;SUCLG1,non_coding_transcript_exon_variant,,ENST00000491642,;SUCLG1,non_coding_transcript_exon_variant,,ENST00000483605,;SUCLG1,non_coding_transcript_exon_variant,,ENST00000430989,;SUCLG1,upstream_gene_variant,,ENST00000488234,;SUCLG1,3_prime_UTR_variant,,ENST00000442240,;	A	ENST00000393868	Transcript	missense_variant	708/1475	497/1041	166/346	R/M	aGg/aTg		1		-1	SUCLG1	HGNC	HGNC:11449	protein_coding	YES	CCDS1967.2	ENSP00000377446	P53597		UPI000014BF59	NM_003849.3	deleterious(0)		4/9		hmmpanther:PTHR11117,TIGRFAM_domain:TIGR01019,PIRSF_domain:PIRSF001553,Gene3D:3.40.50.720,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	84441281	84441281	C	A	1	0	0	0	0	1	0	0	0	15748	681	24	2		2	SUCLG1	2	84441281	Missense_Mutation	SNP	C	C3N-00549_TP	14143817	84441281	157752248	60	16250											
TRABD2A	0	.	GRCh38	chr2	84870284	84870284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccttttccactgcccCagtctgtttcctcagccgct	4	14	5	18	1	2	0	1	0	1	0	5	0	5	0	7	0	2	2	7	0	0	4	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.610G>T	p.Gly204Trp	p.G204W	ENST00000409520	2/7	158	104	54	147	147	0	strelka-varscan	TRABD2A,missense_variant,p.Gly204Trp,ENST00000409520,NM_001277053.1;TRABD2A,missense_variant,p.Gly204Trp,ENST00000335459,NM_001080824.2;TRABD2A,missense_variant,p.Gly204Trp,ENST00000409133,NM_001307978.1;TRABD2A,downstream_gene_variant,,ENST00000436322,;TRABD2A,downstream_gene_variant,,ENST00000474298,;RPL12P18,upstream_gene_variant,,ENST00000437175,;	A	ENST00000409520	Transcript	missense_variant	816/1975	610/1518	204/505	G/W	Ggg/Tgg		1		-1	TRABD2A	HGNC	HGNC:27013	protein_coding	YES	CCDS62946.1	ENSP00000387075	Q86V40		UPI000016012F	NM_001277053.1	deleterious(0)		2/7		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31120,hmmpanther:PTHR31120:SF7,Pfam_domain:PF01963																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	84870284	84870284	C	A	1	0	0	0	0	1	0	0	0	16917	594	21	2		2	TRABD2A	2	84870284	Missense_Mutation	SNP	C	C3N-00549_TP	429003	84870284	157323245	61	16251											
SLC5A7	0	.	GRCh38	chr2	108008651	108008651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaagttccatgtttgcacGgaacatctaccagctttcct	10	12	7	12	1	1	0	0	0	1	0	3	1	3	1	3	1	5	5	3	1	3	4	rs147656110		C3N-00549_TP	C3N-00549_NB	G	G																c.1082G>T	p.Arg361Leu	p.R361L	ENST00000264047	8/9	213	142	71	169	169	0	strelka-varscan	SLC5A7,missense_variant,p.Arg361Leu,ENST00000264047,NM_001305006.1,NM_001305007.1,NM_001305005.1,NM_021815.3;SLC5A7,missense_variant,p.Arg361Leu,ENST00000409059,;	T	ENST00000264047	Transcript	missense_variant	1358/5152	1082/1743	361/580	R/L	cGg/cTg	rs147656110,COSM3565027	1		1	SLC5A7	HGNC	HGNC:14025	protein_coding	YES	CCDS2074.1	ENSP00000264047	Q9GZV3		UPI0000070792	NM_001305006.1,NM_001305007.1,NM_001305005.1,NM_021815.3	deleterious(0.01)		8/9		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF129											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	51	108008651	108008651	G	T	1	0	0	0	0	1	0	0	0	14953	1116	39	1		1	SLC5A7	2	108008651	Missense_Mutation	SNP	G	C3N-00549_TP	23138367	108008651	134184878	62	16252											
NT5DC4	0	.	GRCh38	chr2	112724803	112724803	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcctcgggcaggccctGgaggtcctactttgacctga	7	9	13	12	1	0	3	0	3	0	0	2	4	1	4	4	4	2	1	4	4	2	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.734G>C	p.Trp245Ser	p.W245S	ENST00000327581	11/17	116	25	91	180	180	0	strelka-varscan	NT5DC4,missense_variant,p.Trp245Ser,ENST00000327581,;NT5DC4,non_coding_transcript_exon_variant,,ENST00000497526,;NT5DC4,upstream_gene_variant,,ENST00000491170,;NT5DC4,upstream_gene_variant,,ENST00000462854,;NT5DC4,downstream_gene_variant,,ENST00000470675,;NT5DC4,downstream_gene_variant,,ENST00000484666,;	C	ENST00000327581	Transcript	missense_variant	785/1767	734/1287	245/428	W/S	tGg/tCg		1		1	NT5DC4	HGNC	HGNC:27678	protein_coding	YES		ENSP00000330247	Q86YG4		UPI0000197313		deleterious(0)		11/17		hmmpanther:PTHR12103,hmmpanther:PTHR12103:SF18,Gene3D:3.40.50.1000,Pfam_domain:PF05761,PIRSF_domain:PIRSF017434,TIGRFAM_domain:TIGR02244,Superfamily_domains:SSF56784																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	51	112724803	112724803	G	C	1	0	0	0	0	1	0	0	0	10756	1357	47	4		4	NT5DC4	2	112724803	Missense_Mutation	SNP	G	C3N-00549_TP	4716152	112724803	129468726	63	16253											
MYO7B	0	.	GRCh38	chr2	127620403	127620403	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaaaacaagcagcctggcCcggggctggatcctgctcag	9	7	12	13	1	2	0	2	0	0	0	3	1	3	1	3	4	4	3	3	4	3	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.3384C>A	p.=	p.A1128A	ENST00000428314	26/47	58	29	29	81	81	0	strelka-varscan	MYO7B,synonymous_variant,p.=,ENST00000428314,NM_001080527.1;MYO7B,synonymous_variant,p.=,ENST00000409816,;MYO7B,5_prime_UTR_variant,,ENST00000409090,;MYO7B,5_prime_UTR_variant,,ENST00000437387,;MYO7B,non_coding_transcript_exon_variant,,ENST00000496841,;MYO7B,non_coding_transcript_exon_variant,,ENST00000491278,;	A	ENST00000428314	Transcript	synonymous_variant	3437/6715	3384/6351	1128/2116	A	gcC/gcA		1		1	MYO7B	HGNC	HGNC:7607	protein_coding	YES	CCDS46405.1	ENSP00000415090	Q6PIF6		UPI00006C04F0	NM_001080527.1			26/47		Pfam_domain:PF00784,PROSITE_profiles:PS51016,SMART_domains:SM00139																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	51	127620403	127620403	C	A	1	0	0	0	0	0	0	0	1	10084	610	22	2		2	MYO7B	2	127620403	Silent	SNP	C	C3N-00549_TP	14895600	127620403	114573126	64	16254											
ARHGEF4	0	.	GRCh38	chr2	130946513	130946513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcctcctcttccagtgctGgagaaagacgatcattacct	9	13	7	12	1	2	2	1	0	1	2	5	4	5	2	4	1	2	1	4	1	2	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.305G>T	p.Trp102Leu	p.W102L	ENST00000326016	4/14	51	19	32	77	77	0	strelka-varscan	ARHGEF4,missense_variant,p.Trp1288Leu,ENST00000409359,;ARHGEF4,missense_variant,p.Trp102Leu,ENST00000525839,NM_032995.2;ARHGEF4,missense_variant,p.Trp127Leu,ENST00000392953,;ARHGEF4,missense_variant,p.Trp102Leu,ENST00000326016,NM_015320.3;ARHGEF4,missense_variant,p.Trp102Leu,ENST00000611048,;ARHGEF4,missense_variant,p.Trp102Leu,ENST00000428230,;ARHGEF4,missense_variant,p.Trp282Leu,ENST00000438985,;ARHGEF4,3_prime_UTR_variant,,ENST00000636987,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000526381,;	T	ENST00000326016	Transcript	missense_variant	824/3666	305/2073	102/690	W/L	tGg/tTg		1		1	ARHGEF4	HGNC	HGNC:684	protein_coding	YES	CCDS2165.1	ENSP00000316845	Q9NR80		UPI00001417F6	NM_015320.3	tolerated_low_confidence(0.54)		4/14																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	51	130946513	130946513	G	T	1	0	0	0	0	1	0	0	0	1043	1362	47	2		2	ARHGEF4	2	130946513	Missense_Mutation	SNP	G	C3N-00549_TP	3326110	130946513	111247016	65	16255											
NCKAP5	0	.	GRCh38	chr2	132783050	132783050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggtttgctggaggaaaggGatcttctcatggatctatta	9	14	13	5	0	3	0	1	0	3	0	4	4	3	4	0	5	1	2	0	5	3	4	rs200887045		C3N-00549_TP	C3N-00549_NB	G	G																c.3761C>A	p.Ser1254Tyr	p.S1254Y	ENST00000409261	14/20	66	26	40	100	100	0	strelka-varscan	NCKAP5,missense_variant,p.Ser1254Tyr,ENST00000409261,NM_207363.2;NCKAP5,missense_variant,p.Ser1254Tyr,ENST00000317721,;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,intron_variant,,ENST00000409213,NM_207481.3;NCKAP5,upstream_gene_variant,,ENST00000473859,;	T	ENST00000409261	Transcript	missense_variant	4135/7594	3761/5730	1254/1909	S/Y	tCc/tAc	rs200887045,COSM569969	1		-1	NCKAP5	HGNC	HGNC:29847	protein_coding	YES	CCDS46418.1	ENSP00000387128	O14513		UPI0000E07A3F	NM_207363.2	deleterious(0)		14/20		hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF0											0,1						MODERATE	1	SNV	5		0,1	1										PASS		.	.												T	3	4	51	132783050	132783050	G	T	1	0	0	0	0	1	0	0	0	10241	1174	41	2		2	NCKAP5	2	132783050	Missense_Mutation	SNP	G	C3N-00549_TP	1836537	132783050	109410479	66	16256											
NCKAP5	0	.	GRCh38	chr2	132784175	132784175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacccagtccctcctgctgGgcatcctggagctgtgcgga	5	8	14	14	1	0	0	0	0	0	0	3	3	3	3	4	4	3	3	4	4	0	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.2636C>A	p.Pro879His	p.P879H	ENST00000409261	14/20	15	5	10	18	18	0	strelka-varscan	NCKAP5,missense_variant,p.Pro879His,ENST00000409261,NM_207363.2;NCKAP5,missense_variant,p.Pro879His,ENST00000317721,;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,intron_variant,,ENST00000409213,NM_207481.3;NCKAP5,upstream_gene_variant,,ENST00000473859,;	T	ENST00000409261	Transcript	missense_variant	3010/7594	2636/5730	879/1909	P/H	cCc/cAc		1		-1	NCKAP5	HGNC	HGNC:29847	protein_coding	YES	CCDS46418.1	ENSP00000387128	O14513		UPI0000E07A3F	NM_207363.2	deleterious(0)		14/20		hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF0																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	51	132784175	132784175	G	T	1	0	0	0	0	1	0	0	0	10241	1232	43	2		2	NCKAP5	2	132784175	Missense_Mutation	SNP	G	C3N-00549_TP	1125	132784175	109409354	67	16257											
PLA2R1	0	.	GRCh38	chr2	160033041	160033041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgaagaatgtgcctcactCcaagagagagatgaaagcag	16	6	11	8	0	1	5	1	2	0	3	2	7	2	5	2	0	2	1	2	0	4	0	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.759G>T	p.Trp253Cys	p.W253C	ENST00000283243	4/30	85	23	62	235	234	1	strelka-varscan	PLA2R1,missense_variant,p.Trp253Cys,ENST00000283243,NM_007366.4,NM_001195641.1;PLA2R1,missense_variant,p.Trp253Cys,ENST00000392771,NM_001007267.2;	A	ENST00000283243	Transcript	missense_variant	966/14371	759/4392	253/1463	W/C	tgG/tgT		1		-1	PLA2R1	HGNC	HGNC:9042	protein_coding	YES	CCDS33309.1	ENSP00000283243	Q13018		UPI00001AEA9D	NM_007366.4,NM_001195641.1	deleterious(0)		4/30		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF74,Low_complexity_(Seg):seg,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	160033041	160033041	C	A	1	0	0	0	0	1	0	0	0	12106	856	30	2		2	PLA2R1	2	160033041	Missense_Mutation	SNP	C	C3N-00549_TP	27248866	160033041	82160488	68	16258											
SLC4A10	0	.	GRCh38	chr2	161904059	161904059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctccatacttctggagtGacttcagagatgctttcagc	10	12	9	10	0	3	2	2	1	1	1	4	4	4	3	1	1	4	2	1	1	2	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1498G>T	p.Asp500Tyr	p.D500Y	ENST00000446997	13/27	112	34	78	116	116	0	strelka-varscan	SLC4A10,missense_variant,p.Asp481Tyr,ENST00000375514,NM_001178016.1;SLC4A10,missense_variant,p.Asp470Tyr,ENST00000415876,NM_022058.3;SLC4A10,missense_variant,p.Asp500Tyr,ENST00000446997,NM_001178015.1;SLC4A10,missense_variant,p.Asp470Tyr,ENST00000272716,;SLC4A10,missense_variant,p.Asp500Tyr,ENST00000421911,;SLC4A10,downstream_gene_variant,,ENST00000493021,;SLC4A10,3_prime_UTR_variant,,ENST00000446228,;	T	ENST00000446997	Transcript	missense_variant	1591/5551	1498/3357	500/1118	D/Y	Gac/Tac		1		1	SLC4A10	HGNC	HGNC:13811	protein_coding	YES	CCDS54411.1	ENSP00000393066	Q6U841		UPI00001D4707	NM_001178015.1	deleterious(0)		13/27		hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,Pfam_domain:PF00955,Gene3D:1bzkA00,TIGRFAM_domain:TIGR00834,Prints_domain:PR01231																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	161904059	161904059	G	T	1	0	0	0	0	1	0	0	0	14928	1290	45	2		2	SLC4A10	2	161904059	Missense_Mutation	SNP	G	C3N-00549_TP	1871018	161904059	80289470	69	16259											
ITGA4	0	.	GRCh38	chr2	181535436	181535436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttatgctattttcaggctgGcttctttaaaagacaataca	12	15	7	7	0	2	1	1	0	1	1	2	1	2	1	0	2	2	4	0	2	6	8	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.3008G>A	p.Gly1003Asp	p.G1003D	ENST00000397033	28/28	29	9	20	19	19	0	strelka-varscan	ITGA4,missense_variant,p.Gly1003Asp,ENST00000397033,NM_000885.4;CERKL,downstream_gene_variant,,ENST00000410087,NM_201548.4;CERKL,downstream_gene_variant,,ENST00000409440,NM_001160277.1;CERKL,downstream_gene_variant,,ENST00000339098,NM_001030311.2;CERKL,downstream_gene_variant,,ENST00000374970,NM_001030313.2;CERKL,downstream_gene_variant,,ENST00000374969,NM_001030312.2;CERKL,downstream_gene_variant,,ENST00000494398,;CERKL,downstream_gene_variant,,ENST00000374967,;CERKL,downstream_gene_variant,,ENST00000452174,;CERKL,downstream_gene_variant,,ENST00000421817,;	A	ENST00000397033	Transcript	missense_variant	3438/4189	3008/3099	1003/1032	G/D	gGc/gAc		1		1	ITGA4	HGNC	HGNC:6140	protein_coding	YES	CCDS42788.1	ENSP00000380227	P13612		UPI000052D444	NM_000885.4	deleterious(0)		28/28		hmmpanther:PTHR23220:SF78,hmmpanther:PTHR23220,PROSITE_patterns:PS00242,Gene3D:2k1aA00,Prints_domain:PR01185																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	181535436	181535436	G	A	1	0	0	0	0	1	0	0	0	7785	1217	42	3		3	ITGA4	2	181535436	Missense_Mutation	SNP	G	C3N-00549_TP	19631377	181535436	60658093	70	16260											
DNAJC10	0	.	GRCh38	chr2	182736348	182736348	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctactgcttattttcctcctGgagccactttaaataacaaa	12	14	4	11	0	0	0	0	0	0	0	2	1	2	1	3	1	4	1	3	1	6	7	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.949G>T	p.Gly317Ter	p.G317*	ENST00000264065	11/24	63	29	34	106	105	1	strelka-varscan	DNAJC10,stop_gained,p.Gly317Ter,ENST00000264065,NM_018981.2;DNAJC10,stop_gained,p.Gly317Ter,ENST00000537515,;DNAJC10,intron_variant,,ENST00000616986,NM_001271581.1;DNAJC10,intron_variant,,ENST00000613960,;DNAJC10,stop_gained,p.Gly106Ter,ENST00000444005,;DNAJC10,non_coding_transcript_exon_variant,,ENST00000491074,;DNAJC10,intron_variant,,ENST00000418559,;DNAJC10,downstream_gene_variant,,ENST00000459930,;	T	ENST00000264065	Transcript	stop_gained	1364/20129	949/2382	317/793	G/*	Gga/Tga		1		1	DNAJC10	HGNC	HGNC:24637	protein_coding	YES	CCDS33345.1	ENSP00000264065	Q8IXB1		UPI000007376C	NM_018981.2			11/24		PIRSF_domain:PIRSF037293,Superfamily_domains:SSF52833																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	51	182736348	182736348	G	T	1	0	0	0	0	0	1	0	0	4443	1349	47	2		2	DNAJC10	2	182736348	Nonsense_Mutation	SNP	G	C3N-00549_TP	1200912	182736348	59457181	71	16261											
PMS1	0	.	GRCh38	chr2	189853968	189853968	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcattacaatctgaaatgCctaaaggaatctactcgttt	14	13	5	9	1	3	1	1	1	2	0	4	2	3	2	1	1	3	1	1	1	7	4	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.852C>G	p.Cys284Trp	p.C284W	ENST00000441310	8/13	95	31	64	84	84	0	strelka-varscan	PMS1,missense_variant,p.Cys108Trp,ENST00000624204,NM_001289408.1;PMS1,missense_variant,p.Cys108Trp,ENST00000432292,NM_001289409.1;PMS1,missense_variant,p.Cys284Trp,ENST00000441310,NM_000534.4;PMS1,missense_variant,p.Cys245Trp,ENST00000418224,;PMS1,missense_variant,p.Cys245Trp,ENST00000409823,NM_001128143.1;PMS1,missense_variant,p.Cys284Trp,ENST00000447232,NM_001128144.1;PMS1,missense_variant,p.Cys223Trp,ENST00000424307,;PMS1,missense_variant,p.Cys69Trp,ENST00000409593,;PMS1,intron_variant,,ENST00000618056,;PMS1,upstream_gene_variant,,ENST00000452382,;PMS1,non_coding_transcript_exon_variant,,ENST00000421722,;PMS1,non_coding_transcript_exon_variant,,ENST00000424059,;PMS1,upstream_gene_variant,,ENST00000483293,;PMS1,missense_variant,p.Cys245Trp,ENST00000450931,;PMS1,3_prime_UTR_variant,,ENST00000342075,;PMS1,downstream_gene_variant,,ENST00000447734,;	G	ENST00000441310	Transcript	missense_variant	1085/3225	852/2799	284/932	C/W	tgC/tgG		1		1	PMS1	HGNC	HGNC:9121	protein_coding	YES	CCDS2302.1	ENSP00000406490	P54277		UPI00000405F5	NM_000534.4	tolerated(0.11)		8/13		Gene3D:3.30.230.10,Pfam_domain:PF01119,hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF43,SMART_domains:SM01340,Superfamily_domains:SSF54211,TIGRFAM_domain:TIGR00585																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	51	189853968	189853968	C	G	1	0	0	0	0	1	0	0	0	12249	747	26	4		4	PMS1	2	189853968	Missense_Mutation	SNP	C	C3N-00549_TP	7117620	189853968	52339561	72	16262											
KIAA2012	0	.	GRCh38	chr2	202154799	202154799	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctgcacatcgacatgacgCcgttcctgaaggtgatctca	10	9	10	12	3	1	3	1	3	1	0	4	4	2	3	2	1	2	3	2	1	1	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.2035C>A	p.Pro679Thr	p.P679T	ENST00000498697	14/24	51	17	34	84	84	0	strelka-varscan	KIAA2012,missense_variant,p.Pro679Thr,ENST00000498697,;KIAA2012,missense_variant,p.Pro714Thr,ENST00000541917,NM_001277372.1;KIAA2012,downstream_gene_variant,,ENST00000409515,;KIAA2012,non_coding_transcript_exon_variant,,ENST00000469462,;	A	ENST00000498697	Transcript	missense_variant	2035/3772	2035/3546	679/1181	P/T	Ccg/Acg		1		1	KIAA2012	HGNC	HGNC:51250	protein_coding	YES		ENSP00000419834		H7C5G6	UPI0005D0279F				14/24		Pfam_domain:PF15709,hmmpanther:PTHR21937,hmmpanther:PTHR21937:SF3																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	51	202154799	202154799	C	A	1	0	0	0	0	1	0	0	0	8131	739	26	2		2	KIAA2012	2	202154799	Missense_Mutation	SNP	C	C3N-00549_TP	12300831	202154799	40038730	73	16263											
MAP2	0	.	GRCh38	chr2	209693011	209693011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggatgagtggggtttaGttgcccccatatctcctggc	9	11	12	9	0	1	1	0	1	1	0	2	2	1	2	3	4	1	2	3	4	4	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.841G>T	p.Val281Phe	p.V281F	ENST00000360351	7/15	53	20	33	88	88	0	strelka-varscan	MAP2,missense_variant,p.Val281Phe,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Val277Phe,ENST00000447185,;MAP2,missense_variant,p.Val363Phe,ENST00000445941,;MAP2,intron_variant,,ENST00000392194,NM_031845.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,non_coding_transcript_exon_variant,,ENST00000461253,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000481649,;	T	ENST00000360351	Transcript	missense_variant	1347/9711	841/5484	281/1827	V/F	Gtt/Ttt		1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3	deleterious_low_confidence(0.04)		7/15		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	51	209693011	209693011	G	T	1	0	0	0	0	1	0	0	0	9157	1029	36	2		2	MAP2	2	209693011	Missense_Mutation	SNP	G	C3N-00549_TP	7538212	209693011	32500518	74	16264											
VWC2L	0	.	GRCh38	chr2	214436725	214436726	+	Frame_Shift_Ins	INS	-	-	A																															gtgtgtcaacccagtctatgINSaaccagaacaatgttgtcct																								novel		C3N-00549_TP	C3N-00549_NB	-	-																c.489dupA	p.Pro164ThrfsTer26	p.P164Tfs*26	ENST00000312504	3/4	100	40	60	167	167	0	sindel-varindel-pindel	VWC2L,frameshift_variant,p.Pro164ThrfsTer26,ENST00000312504,NM_001080500.2;VWC2L,intron_variant,,ENST00000427124,;AC107218.3,intron_variant,,ENST00000437883,;AC107218.3,intron_variant,,ENST00000412896,;	A	ENST00000312504	Transcript	frameshift_variant	1289-1290/4610	487-488/669	163/222	E/EX	gaa/gAaa		1		1	VWC2L	HGNC	HGNC:37203	protein_coding	YES	CCDS46509.1	ENSP00000308976	B2RUY7		UPI00004912C1	NM_001080500.2			3/4		PROSITE_patterns:PS01208,PROSITE_profiles:PS50184,SMART_domains:SM00214,Superfamily_domains:SSF57603																	HIGH	1	insertion	1	2		1										PASS		.	.												A	7	5	51	214436725	214436725	-	A	1	0	1	1	0	0	0	0	0	17803	1291	45	0		0	VWC2L	2	214436725	Frame_Shift_Ins	INS	-	C3N-00549_TP	4743714	214436725	27756804	75	16265											
VWC2L	0	.	GRCh38	chr2	214436750	214436750	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacaatgttgtcctgtctGcaaaaatggtaagaccacac	15	9	8	9	0	1	2	0	0	1	2	2	2	2	2	2	1	2	3	2	1	5	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.512G>T	p.Cys171Phe	p.C171F	ENST00000312504	3/4	81	31	50	131	131	0	strelka-varscan	VWC2L,missense_variant,p.Cys171Phe,ENST00000312504,NM_001080500.2;VWC2L,intron_variant,,ENST00000427124,;AC107218.3,intron_variant,,ENST00000437883,;AC107218.3,intron_variant,,ENST00000412896,;	T	ENST00000312504	Transcript	missense_variant	1314/4610	512/669	171/222	C/F	tGc/tTc		1		1	VWC2L	HGNC	HGNC:37203	protein_coding	YES	CCDS46509.1	ENSP00000308976	B2RUY7		UPI00004912C1	NM_001080500.2	deleterious(0)		3/4		PROSITE_patterns:PS01208,PROSITE_profiles:PS50184,SMART_domains:SM00214,Superfamily_domains:SSF57603																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	214436750	214436750	G	T	1	0	0	0	0	1	0	0	0	17803	1319	46	2		2	VWC2L	2	214436750	Missense_Mutation	SNP	G	C3N-00549_TP	25	214436750	27756779	76	16266											
ZNF142	0	.	GRCh38	chr2	218642433	218642433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtcggctagggaaggcCtcctggcaggccccacactc	7	5	13	16	1	0	0	0	0	0	0	3	1	1	1	5	5	0	2	5	5	2	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.4083G>T	p.Glu1361Asp	p.E1361D	ENST00000411696	7/9	66	22	44	56	56	0	strelka-varscan	ZNF142,missense_variant,p.Glu1361Asp,ENST00000411696,;ZNF142,missense_variant,p.Glu1361Asp,ENST00000449707,NM_001105537.2;ZNF142,3_prime_UTR_variant,,ENST00000450765,;ZNF142,3_prime_UTR_variant,,ENST00000433921,;	A	ENST00000411696	Transcript	missense_variant	4527/5926	4083/5064	1361/1687	E/D	gaG/gaT		1		-1	ZNF142	HGNC	HGNC:12927	protein_coding	YES	CCDS42817.1	ENSP00000398798	P52746		UPI000013D5FC		deleterious(0.04)		7/9		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF43,PROSITE_patterns:PS00028,SMART_domains:SM00355																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	51	218642433	218642433	C	A	1	0	0	0	0	1	0	0	0	18312	680	24	2		2	ZNF142	2	218642433	Missense_Mutation	SNP	C	C3N-00549_TP	4205683	218642433	23551096	77	16267											
CFAP65	0	.	GRCh38	chr2	219019161	219019161	+	Frame_Shift_Del	DEL	G	G	-																															agccttaaaggggtgaggacGggggggatctggctcatgct																								rs568903495		C3N-00549_TP	C3N-00549_NB	G	G																c.3492delC	p.Val1165SerfsTer5	p.V1165Sfs*5	ENST00000341552	21/35	57	54	3	99	99	0	varindel-pindel	CFAP65,frameshift_variant,p.Val1165SerfsTer5,ENST00000341552,NM_194302.3;CFAP65,frameshift_variant,p.Val1165SerfsTer5,ENST00000453220,;CFAP65,frameshift_variant,p.Val74SerfsTer5,ENST00000413871,;AC097468.4,downstream_gene_variant,,ENST00000441450,;	-	ENST00000341552	Transcript	frameshift_variant	3576/5953	3492/5778	1164/1925	P/X	ccC/cc	rs568903495,COSM3044278	1		-1	CFAP65	HGNC	HGNC:25325	protein_coding	YES	CCDS2430.2	ENSP00000340776	Q6ZU64		UPI0000609097	NM_194302.3			21/35		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF223											0,1						HIGH		deletion	5		0,1	1										PASS		.	.												-	7	5	51	219019161	219019161	G	-	1	0	1	0	1	0	0	0	0	3029	1103	39	0		0	CFAP65	2	219019161	Frame_Shift_Del	DEL	G	C3N-00549_TP	376728	219019161	23174368	78	16268											
CFAP65	0	.	GRCh38	chr2	219029622	219029622	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggagcgctccccaaggttGacccagctgaagttgacaca	10	7	11	13	2	0	3	0	3	0	0	2	4	1	4	3	2	2	4	3	2	2	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1431C>A	p.=	p.V477V	ENST00000341552	11/35	121	27	94	149	149	0	strelka-varscan	CFAP65,synonymous_variant,p.=,ENST00000341552,NM_194302.3;CFAP65,synonymous_variant,p.=,ENST00000453220,;CFAP65,synonymous_variant,p.=,ENST00000409865,NM_001278295.1;CFAP65,synonymous_variant,p.=,ENST00000410037,NM_001278296.1;CFAP65,5_prime_UTR_variant,,ENST00000441968,;CFAP65,downstream_gene_variant,,ENST00000295729,NM_152389.3;CFAP65,downstream_gene_variant,,ENST00000457968,;CFAP65,downstream_gene_variant,,ENST00000436631,;CFAP65,non_coding_transcript_exon_variant,,ENST00000462848,;CFAP65,non_coding_transcript_exon_variant,,ENST00000463683,;CFAP65,non_coding_transcript_exon_variant,,ENST00000474601,;	T	ENST00000341552	Transcript	synonymous_variant	1515/5953	1431/5778	477/1925	V	gtC/gtA		1		-1	CFAP65	HGNC	HGNC:25325	protein_coding	YES	CCDS2430.2	ENSP00000340776	Q6ZU64		UPI0000609097	NM_194302.3			11/35		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF223																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	51	219029622	219029622	G	T	1	0	0	0	0	0	0	0	1	3029	1277	45	2		2	CFAP65	2	219029622	Silent	SNP	G	C3N-00549_TP	10461	219029622	23163907	79	16269											
SPEG	0	.	GRCh38	chr2	219448458	219448458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccctgcgcaaggccCgctctctggagcagcccaag	6	5	14	16	2	1	0	0	0	1	0	2	1	1	1	4	3	4	3	4	3	2	0	rs748467065		C3N-00549_TP	C3N-00549_NB	C	C																c.1300C>A	p.Arg434Ser	p.R434S	ENST00000312358	4/41	55	13	42	92	92	0	strelka-varscan	SPEG,missense_variant,p.Arg434Ser,ENST00000312358,NM_005876.4;SPEG,missense_variant,p.Arg330Ser,ENST00000396698,;SPEG,missense_variant,p.Arg281Ser,ENST00000431523,;SPEG,downstream_gene_variant,,ENST00000435853,;SPEG,downstream_gene_variant,,ENST00000451076,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,upstream_gene_variant,,ENST00000462545,;SPEG,downstream_gene_variant,,ENST00000491248,;SPEG,upstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000497065,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,intron_variant,,ENST00000409595,;SPEG,downstream_gene_variant,,ENST00000452101,;SPEG,downstream_gene_variant,,ENST00000420132,;SPEG,downstream_gene_variant,,ENST00000403148,;	A	ENST00000312358	Transcript	missense_variant	1432/10782	1300/9804	434/3267	R/S	Cgc/Agc	rs748467065	1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	tolerated(0.28)		4/41																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	51	219448458	219448458	C	A	1	0	0	0	0	1	0	0	0	15387	652	23	1		1	SPEG	2	219448458	Missense_Mutation	SNP	C	C3N-00549_TP	418836	219448458	22745071	80	16270											
SP140	0	.	GRCh38	chr2	230225858	230225858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagctcatggcccagcaggGccagcaggggcagatggcaa	11	3	15	12	0	1	1	1	0	0	1	1	1	1	1	2	5	3	5	2	5	2	0	rs753172617		C3N-00549_TP	C3N-00549_NB	G	G																c.14G>T	p.Gly5Val	p.G5V	ENST00000392045	1/27	142	47	95	303	303	0	strelka-varscan	SP140,missense_variant,p.Gly5Val,ENST00000392045,NM_007237.4;SP140,missense_variant,p.Gly5Val,ENST00000420434,NM_001278451.1;SP140,missense_variant,p.Gly5Val,ENST00000343805,NM_001278452.1;SP140,missense_variant,p.Gly5Val,ENST00000417495,NM_001278453.1;SP140,missense_variant,p.Gly5Val,ENST00000373645,NM_001005176.2;SP140,missense_variant,p.Gly5Val,ENST00000456542,;AC009950.1,upstream_gene_variant,,ENST00000540870,NM_001185015.1;SP110,upstream_gene_variant,,ENST00000416610,;SP140,upstream_gene_variant,,ENST00000544128,;SP140,upstream_gene_variant,,ENST00000538494,;SP140,non_coding_transcript_exon_variant,,ENST00000473711,;SP140,non_coding_transcript_exon_variant,,ENST00000543928,;	T	ENST00000392045	Transcript	missense_variant	128/3246	14/2604	5/867	G/V	gGc/gTc	rs753172617	1		1	SP140	HGNC	HGNC:17133	protein_coding	YES	CCDS42831.1	ENSP00000375899	Q13342		UPI0000209746	NM_007237.4	deleterious_low_confidence(0.01)		1/27		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	51	230225858	230225858	G	T	1	0	0	0	0	1	0	0	0	15288	1203	42	2		2	SP140	2	230225858	Missense_Mutation	SNP	G	C3N-00549_TP	10777400	230225858	11967671	81	16271											
SUMF1	0	.	GRCh38	chr3	4452967	4452967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaggcatcaatagtaactCtcctcgcaggtgcttcccca	12	9	7	13	1	2	0	1	0	1	0	5	0	3	0	3	2	2	4	3	2	5	3	rs770788735		C3N-00549_TP	C3N-00549_NB	C	C																c.353G>A	p.Arg118Lys	p.R118K	ENST00000272902	2/9	212	80	132	280	280	0	strelka-varscan-mutect	SUMF1,missense_variant,p.Arg118Lys,ENST00000272902,NM_182760.3;SUMF1,missense_variant,p.Arg118Lys,ENST00000383843,NM_001164674.1;SUMF1,missense_variant,p.Arg118Lys,ENST00000405420,NM_001164675.1;SUMF1,missense_variant,p.Arg118Lys,ENST00000458465,;SUMF1,missense_variant,p.Arg118Lys,ENST00000448413,;	T	ENST00000272902	Transcript	missense_variant	389/2159	353/1125	118/374	R/K	aGa/aAa	rs770788735,COSM3067464,COSM3067465	1		-1	SUMF1	HGNC	HGNC:20376	protein_coding	YES	CCDS2564.1	ENSP00000272902	Q8NBK3		UPI0000040734	NM_182760.3	tolerated(0.65)		2/9		Gene3D:1z70X00,Pfam_domain:PF03781,hmmpanther:PTHR23150,hmmpanther:PTHR23150:SF23,Superfamily_domains:SSF56436											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs770788735	.												T	3	4	51	4452967	4452967	C	T	1	0	0	0	0	1	0	0	0	15771	913	32	3		3	SUMF1	3	4452967	Missense_Mutation	SNP	C	C3N-00549_TP		4452967	193842592	82	16272											
ATG7	0	.	GRCh38	chr3	11554837	11554837	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgagcgatgatgagacCatctgagatggccccgctgt	10	8	13	10	2	1	4	0	4	1	2	1	8	1	4	3	1	1	1	3	1	0	0	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.2106C>A	p.=	p.T702T	ENST00000354449	19/19	89	38	51	146	146	0	strelka-varscan-mutect	ATG7,synonymous_variant,p.=,ENST00000354449,NM_006395.2;ATG7,synonymous_variant,p.=,ENST00000354956,NM_001136031.2;ATG7,synonymous_variant,p.=,ENST00000446450,NM_001144912.1;VGLL4,downstream_gene_variant,,ENST00000273038,NM_014667.3;VGLL4,downstream_gene_variant,,ENST00000413604,NM_001284391.1;VGLL4,downstream_gene_variant,,ENST00000426568,NM_001284390.1;VGLL4,downstream_gene_variant,,ENST00000430365,NM_001128219.2;VGLL4,downstream_gene_variant,,ENST00000424529,NM_001128221.2;VGLL4,downstream_gene_variant,,ENST00000451674,NM_001128220.2;VGLL4,downstream_gene_variant,,ENST00000418000,;VGLL4,downstream_gene_variant,,ENST00000458499,;VGLL4,downstream_gene_variant,,ENST00000445411,;	A	ENST00000354449	Transcript	synonymous_variant	2131/4959	2106/2112	702/703	T	acC/acA		1		1	ATG7	HGNC	HGNC:16935	protein_coding	YES	CCDS2605.1	ENSP00000346437	O95352		UPI00000705C7	NM_006395.2			19/19		hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF3																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	51	11554837	11554837	C	A	1	0	0	0	0	0	0	0	1	1253	581	21	2		2	ATG7	3	11554837	Silent	SNP	C	C3N-00549_TP	7101870	11554837	186740722	83	16273											
SMARCC1	0	.	GRCh38	chr3	47590744	47590744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggaggggtagggccaCtcccagaggggtggatgttg	7	7	19	8	0	0	1	0	0	0	1	1	3	1	3	3	7	1	2	3	7	1	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.3137G>T	p.Ser1046Ile	p.S1046I	ENST00000254480	27/28	39	10	29	78	78	0	strelka-varscan-mutect	SMARCC1,missense_variant,p.Ser1046Ile,ENST00000254480,NM_003074.3;SMARCC1,non_coding_transcript_exon_variant,,ENST00000425518,;SMARCC1,downstream_gene_variant,,ENST00000492896,;	A	ENST00000254480	Transcript	missense_variant	3257/6375	3137/3318	1046/1105	S/I	aGt/aTt		1		-1	SMARCC1	HGNC	HGNC:11104	protein_coding	YES	CCDS2758.1	ENSP00000254480	Q92922		UPI000013CE3B	NM_003074.3	tolerated_low_confidence(0.05)		27/28		Low_complexity_(Seg):seg,hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF9																	MODERATE	1	SNV	1			1										PASS		rs1384230695	.												A	3	1	51	47590744	47590744	C	A	1	0	0	0	0	1	0	0	0	15068	565	20	2		2	SMARCC1	3	47590744	Missense_Mutation	SNP	C	C3N-00549_TP	36035907	47590744	150704815	84	16274											
FRMD4B	0	.	GRCh38	chr3	69180949	69180949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaacaaggtacttgcagcCccgcaaaccccaggcatctc	12	5	9	15	1	1	1	0	0	1	1	2	2	1	1	4	2	5	4	4	2	4	2	rs779137900		C3N-00549_TP	C3N-00549_NB	C	C																c.2801G>T	p.Gly934Val	p.G934V	ENST00000398540	21/23	89	26	63	70	70	0	strelka-varscan	FRMD4B,missense_variant,p.Gly934Val,ENST00000398540,NM_015123.2;FRMD4B,missense_variant,p.Gly586Val,ENST00000478263,;	A	ENST00000398540	Transcript	missense_variant	2885/5060	2801/3105	934/1034	G/V	gGg/gTg	rs779137900,COSM398241	1		-1	FRMD4B	HGNC	HGNC:24886	protein_coding	YES	CCDS46863.1	ENSP00000381549	Q9Y2L6		UPI00001C1DF1	NM_015123.2	tolerated(0.17)		21/23		hmmpanther:PTHR23281:SF16,hmmpanther:PTHR23281											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	51	69180949	69180949	C	A	1	0	0	0	0	1	0	0	0	5922	623	22	2		2	FRMD4B	3	69180949	Missense_Mutation	SNP	C	C3N-00549_TP	21590205	69180949	129114610	85	16275											
OR5H15	0	.	GRCh38	chr3	98169507	98169507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctccgcaagcagatggtCaaaatatggtggagcctcta	12	9	10	10	1	3	1	1	0	2	1	4	2	3	2	2	3	2	2	2	3	5	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.808C>A	p.Gln270Lys	p.Q270K	ENST00000356526	1/1	185	73	112	291	291	0	strelka-varscan	OR5H15,missense_variant,p.Gln270Lys,ENST00000356526,NM_001005515.1;OR5H15,intron_variant,,ENST00000615035,;	A	ENST00000356526	Transcript	missense_variant	808/942	808/942	270/313	Q/K	Caa/Aaa		1		1	OR5H15	HGNC	HGNC:31287	protein_coding	YES	CCDS33799.1	ENSP00000373195	A6NDH6		UPI00001606CE	NM_001005515.1	tolerated(0.46)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF325,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	51	98169507	98169507	C	A	1	0	0	0	0	1	0	0	0	11231	827	29	2		2	OR5H15	3	98169507	Missense_Mutation	SNP	C	C3N-00549_TP	28988558	98169507	100126052	86	16276											
AC026348.1	0	.	GRCh38	chr3	113407012	113407012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgatccctgcagcttgagaCcggtgaacgtaaaagccatt	11	9	11	10	2	0	3	0	3	0	1	1	4	1	3	3	1	4	3	3	1	3	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.920G>A	p.Gly307Asp	p.G307D	ENST00000393845	7/34	193	79	114	277	276	1	strelka-varscan-mutect	AC026348.1,missense_variant,p.Gly307Asp,ENST00000393845,NM_001164496.1;CFAP44,missense_variant,p.Gly307Asp,ENST00000295868,NM_018338.3;CFAP44-AS1,intron_variant,,ENST00000498480,;CFAP44-AS1,intron_variant,,ENST00000473329,;CFAP44,3_prime_UTR_variant,,ENST00000488854,;CFAP44,3_prime_UTR_variant,,ENST00000489938,;CFAP44,upstream_gene_variant,,ENST00000465186,;	T	ENST00000393845	Transcript	missense_variant	920/5565	920/5565	307/1854	G/D	gGt/gAt		1		-1	AC026348.1	Clone_based_ensembl_gene		protein_coding	YES	CCDS54624.1	ENSP00000377428	Q96MT7		UPI0000367198	NM_001164496.1	deleterious(0)		7/34		PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	51	113407012	113407012	C	T	1	0	0	0	0	1	0	0	0	128	507	18	3		3	AC026348.1	3	113407012	Missense_Mutation	SNP	C	C3N-00549_TP	15237505	113407012	84888547	87	16277											
STAG1	0	.	GRCh38	chr3	136500240	136500240	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccggtatctatgaacaaaTatacccttaaaaatagagtt	17	12	5	7	1	1	2	0	1	1	1	1	2	1	2	2	1	3	2	2	1	11	8	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.885A>G	p.Ile295Met	p.I295M	ENST00000383202	9/34	48	16	32	49	49	0	strelka-varscan-mutect	STAG1,missense_variant,p.Ile295Met,ENST00000383202,NM_005862.2;STAG1,missense_variant,p.Ile295Met,ENST00000236698,;STAG1,missense_variant,p.Ile69Met,ENST00000434713,;STAG1,3_prime_UTR_variant,,ENST00000629124,;STAG1,3_prime_UTR_variant,,ENST00000483235,;STAG1,3_prime_UTR_variant,,ENST00000487065,;STAG1,non_coding_transcript_exon_variant,,ENST00000462818,;	C	ENST00000383202	Transcript	missense_variant	1142/6055	885/3777	295/1258	I/M	atA/atG		1		-1	STAG1	HGNC	HGNC:11354	protein_coding	YES	CCDS3090.1	ENSP00000372689	Q8WVM7		UPI000020A2DE	NM_005862.2	deleterious(0.01)		9/34		hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF6,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	51	136500240	136500240	T	C	1	0	0	0	0	1	0	0	0	15620	1396	49	5		5	STAG1	3	136500240	Missense_Mutation	SNP	T	C3N-00549_TP	23093228	136500240	61795319	88	16278											
ECT2	0	.	GRCh38	chr3	172757112	172757112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaatgacctctacaaggctGattgtagagttattggacca	12	13	9	7	0	1	3	0	2	1	1	1	4	1	4	2	2	1	3	2	2	5	6	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.433G>C	p.Asp145His	p.D145H	ENST00000392692	5/25	80	48	32	94	94	0	strelka-varscan-mutect	ECT2,missense_variant,p.Asp114His,ENST00000540509,NM_001258316.1;ECT2,missense_variant,p.Asp113His,ENST00000417960,;ECT2,missense_variant,p.Asp145His,ENST00000392692,NM_001258315.1;ECT2,missense_variant,p.Asp114His,ENST00000232458,NM_018098.5;ECT2,missense_variant,p.Asp114His,ENST00000441497,;ECT2,missense_variant,p.Asp113His,ENST00000428567,;ECT2,missense_variant,p.Asp114His,ENST00000415665,;ECT2,missense_variant,p.Asp145His,ENST00000438041,;ECT2,downstream_gene_variant,,ENST00000366090,;ECT2,downstream_gene_variant,,ENST00000426894,;ECT2,downstream_gene_variant,,ENST00000366254,;	C	ENST00000392692	Transcript	missense_variant	609/4158	433/2745	145/914	D/H	Gat/Cat		1		1	ECT2	HGNC	HGNC:3155	protein_coding	YES	CCDS58860.1	ENSP00000376457	Q9H8V3		UPI00003DFD0A	NM_001258315.1	deleterious(0.01)		5/25		hmmpanther:PTHR16777,hmmpanther:PTHR16777:SF2,Superfamily_domains:SSF52113																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	51	172757112	172757112	G	C	1	0	0	0	0	1	0	0	0	4729	1290	45	4		4	ECT2	3	172757112	Missense_Mutation	SNP	G	C3N-00549_TP	36256872	172757112	25538447	89	16279											
MASP1	0	.	GRCh38	chr3	187223194	187223194	+	Frame_Shift_Del	DEL	C	C	-																															cgctgacgatgaccatggctCctggaggagagaagatactg																								rs757257707		C3N-00549_TP	C3N-00549_NB	C	C																c.1742delG	p.Gly581GlufsTer21	p.G581Efs*21	ENST00000337774	14/16	265	71	194	439	439	0	sindel-varindel-pindel	MASP1,frameshift_variant,p.Gly581GlufsTer21,ENST00000337774,NM_001879.5;MASP1,downstream_gene_variant,,ENST00000468121,;	-	ENST00000337774	Transcript	frameshift_variant,splice_region_variant	2132/5276	1742/2100	581/699	G/X	gGa/ga	rs757257707	1		-1	MASP1	HGNC	HGNC:6901	protein_coding		CCDS33907.1	ENSP00000336792	P48740		UPI0000161FB8	NM_001879.5			14/16		Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS50240,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,SMART_domains:SM00020,Superfamily_domains:SSF50494																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	51	187223194	187223194	C	-	1	0	1	0	1	0	0	0	0	9248	869	30	0		0	MASP1	3	187223194	Frame_Shift_Del	DEL	C	C3N-00549_TP	14466082	187223194	11072365	90	16280											
FAM43A	0	.	GRCh38	chr3	194687698	194687715	+	In_Frame_Del	DEL	CAGCAGAGGAGGAGGCCG	CAGCAGAGGAGGAGGCCG	-																															ccgtgcggcagagggagatcCagcagaggaggaggccgagg																								novel		C3N-00549_TP	C3N-00549_NB	CAGCAGAGGAGGAGGCCG	CAGCAGAGGAGGAGGCCG																c.872_889delCAGCAGAGGAGGAGGCCG	p.Pro291_Glu297delinsGln	p.P291_E297delinsQ	ENST00000329759	1/1	53	21	32	85	85	0	sindel-varindel-pindel	FAM43A,inframe_deletion,p.Pro291_Glu297delinsGln,ENST00000329759,NM_153690.4;	-	ENST00000329759	Transcript	inframe_deletion	1155-1172/2494	872-889/1272	291-297/423	PAEEEAE/Q	cCAGCAGAGGAGGAGGCCGag/cag		1		1	FAM43A	HGNC	HGNC:26888	protein_coding	YES	CCDS33923.1	ENSP00000371397	Q8N2R8		UPI0000074368	NM_153690.4			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11232:SF36,hmmpanther:PTHR11232																	MODERATE	1	deletion				1										PASS		.	.												-	7	5	51	194687698	194687698	CAGCAGAGGAGGAGGCCG	-	1	0	1	0	1	0	0	0	0	5440	594	21	0		0	FAM43A	3	194687698	In_Frame_Del	DEL	CAGCAGAGGAGGAGGCCG	C3N-00549_TP	7464504	194687698	3607861	91	16281											
MUC20	0	.	GRCh38	chr3	195725204	195725204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcagcgcctcttccgacGgcccccatccagtcatcacc	8	6	8	19	3	3	1	2	0	1	1	5	2	5	1	6	1	2	1	6	1	0	1	rs199756467		C3N-00549_TP	C3N-00549_NB	G	G																c.601G>A	p.Gly201Ser	p.G201S	ENST00000447234	2/4	75	67	8	130	129	1	varscan-mutect	MUC20,missense_variant,p.Gly166Ser,ENST00000445522,;MUC20,missense_variant,p.Gly201Ser,ENST00000447234,NM_001282506.1;MUC20,missense_variant,p.Gly201Ser,ENST00000436408,;MUC20,intron_variant,,ENST00000320736,;MUC20,upstream_gene_variant,,ENST00000423938,;LINC00969,intron_variant,,ENST00000600197,;LINC00969,intron_variant,,ENST00000628392,;LINC00969,intron_variant,,ENST00000629721,;LINC00969,intron_variant,,ENST00000594446,;LINC00969,intron_variant,,ENST00000627297,;LINC00969,intron_variant,,ENST00000595086,;LINC00969,intron_variant,,ENST00000631359,;LINC00969,intron_variant,,ENST00000628125,;LINC00969,intron_variant,,ENST00000629537,;LINC00969,intron_variant,,ENST00000627993,;LINC00969,intron_variant,,ENST00000597662,;LINC00969,intron_variant,,ENST00000628982,;LINC00969,intron_variant,,ENST00000629807,;LINC00969,intron_variant,,ENST00000627035,;LINC00969,intron_variant,,ENST00000626093,;LINC00969,downstream_gene_variant,,ENST00000627609,;LINC00969,downstream_gene_variant,,ENST00000627471,;LINC00969,downstream_gene_variant,,ENST00000630197,;LINC00969,downstream_gene_variant,,ENST00000455807,;LINC00969,downstream_gene_variant,,ENST00000594976,;LINC00969,downstream_gene_variant,,ENST00000630874,;LINC00969,downstream_gene_variant,,ENST00000600288,;LINC00969,downstream_gene_variant,,ENST00000599566,;LINC00969,downstream_gene_variant,,ENST00000626979,;LINC00969,downstream_gene_variant,,ENST00000626872,;LINC00969,downstream_gene_variant,,ENST00000625383,;LINC00969,downstream_gene_variant,,ENST00000612098,;LINC00969,downstream_gene_variant,,ENST00000626566,;LINC00969,downstream_gene_variant,,ENST00000626852,;LINC00969,downstream_gene_variant,,ENST00000432194,;LINC00969,downstream_gene_variant,,ENST00000625665,;LINC00969,downstream_gene_variant,,ENST00000625531,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,downstream_gene_variant,,ENST00000480350,;MUC20,upstream_gene_variant,,ENST00000498018,;	A	ENST00000447234	Transcript	missense_variant	727/2589	601/2130	201/709	G/S	Ggc/Agc	rs199756467,COSM3683032	1		1	MUC20	HGNC	HGNC:23282	protein_coding	YES	CCDS63877.1	ENSP00000414350	Q8N307		UPI000198CC5A	NM_001282506.1	tolerated_low_confidence(0.65)		2/4													0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs199756467	.												A	3	1	51	195725204	195725204	G	A	1	0	0	0	0	1	0	0	0	9974	1116	39	1		1	MUC20	3	195725204	Missense_Mutation	SNP	G	C3N-00549_TP	1037506	195725204	2570355	92	16282											
JAKMIP1	0	.	GRCh38	chr4	6105691	6105691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcgcgcctcctcgcgcgCctcggtcagcagcgccgtct	2	7	12	20	8	2	0	1	0	1	0	5	0	3	0	5	1	3	1	5	1	0	0	rs768570614		C3N-00549_TP	C3N-00549_NB	C	C																c.406G>T	p.Ala136Ser	p.A136S	ENST00000409021	3/21	170	60	110	171	171	0	strelka-varscan-mutect	JAKMIP1,missense_variant,p.Ala136Ser,ENST00000409021,NM_001099433.1;JAKMIP1,missense_variant,p.Ala136Ser,ENST00000282924,NM_144720.3;JAKMIP1,missense_variant,p.Ala136Ser,ENST00000409831,NM_001306133.1;JAKMIP1,intron_variant,,ENST00000409371,;JAKMIP1,intron_variant,,ENST00000410077,NM_001306134.1;JAKMIP1,intron_variant,,ENST00000457227,;JAKMIP1,missense_variant,p.Ala136Ser,ENST00000473053,;	A	ENST00000409021	Transcript	missense_variant	856/2975	406/2496	136/831	A/S	Gcg/Tcg	rs768570614	1		-1	JAKMIP1	HGNC	HGNC:26460	protein_coding	YES	CCDS47005.1	ENSP00000386711	Q96N16		UPI00015734C1	NM_001099433.1	deleterious(0)		3/21		hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF6																	MODERATE	1	SNV	1			1										PASS		rs768570614	.												A	3	1	51	6105691	6105691	C	A	1	0	0	0	0	1	0	0	0	7853	739	26	2		2	JAKMIP1	4	6105691	Missense_Mutation	SNP	C	C3N-00549_TP		6105691	184108864	93	16283											
GPR78	0	.	GRCh38	chr4	8581401	8581401	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctggccttctcaggcgCtgcacttggctgctcgtggc	2	11	14	14	3	1	0	1	0	1	0	4	0	1	0	1	4	2	5	1	4	0	2	rs372133797		C3N-00549_TP	C3N-00549_NB	C	C																c.419C>A	p.Ala140Asp	p.A140D	ENST00000382487	1/3	69	19	50	88	88	0	strelka-varscan-mutect	GPR78,missense_variant,p.Ala140Asp,ENST00000382487,NM_080819.4;GPR78,intron_variant,,ENST00000509216,;GPR78,upstream_gene_variant,,ENST00000504255,;GPR78,downstream_gene_variant,,ENST00000503448,;GPR78,downstream_gene_variant,,ENST00000503981,;GPR78,missense_variant,p.Ala140Asp,ENST00000514302,;	A	ENST00000382487	Transcript	missense_variant	836/1694	419/1092	140/363	A/D	gCt/gAt	rs372133797	1		1	GPR78	HGNC	HGNC:4528	protein_coding	YES	CCDS3403.1	ENSP00000371927	Q96P69	B2R7M4	UPI0000037A5F	NM_080819.4	deleterious(0.02)		1/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs372133797	.												A	3	1	51	8581401	8581401	C	A	1	0	0	0	0	1	0	0	0	6592	797	28	2		2	GPR78	4	8581401	Missense_Mutation	SNP	C	C3N-00549_TP	2475710	8581401	181633154	94	16284											
CC2D2A	0	.	GRCh38	chr4	15537980	15537980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgtatcccgaggaggacCttgtgaagcccagccctcca	9	6	11	15	2	0	1	0	1	0	0	2	4	2	3	6	2	3	1	6	2	2	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1846C>G	p.Leu616Val	p.L616V	ENST00000424120	16/37	157	41	116	264	264	0	strelka-varscan-mutect	CC2D2A,missense_variant,p.Leu616Val,ENST00000424120,;CC2D2A,missense_variant,p.Leu616Val,ENST00000503292,NM_001080522.2;CC2D2A,missense_variant,p.Leu437Val,ENST00000389652,;CC2D2A,downstream_gene_variant,,ENST00000512702,;CC2D2A,non_coding_transcript_exon_variant,,ENST00000513811,;CC2D2A,missense_variant,p.Leu59Val,ENST00000506643,;CC2D2A,3_prime_UTR_variant,,ENST00000634028,;CC2D2A,downstream_gene_variant,,ENST00000510220,;	G	ENST00000424120	Transcript	missense_variant	2100/5249	1846/4863	616/1620	L/V	Ctt/Gtt		1		1	CC2D2A	HGNC	HGNC:29253	protein_coding	YES	CCDS47026.1	ENSP00000403465	Q9P2K1		UPI000023731A		tolerated(0.52)		16/37																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	51	15537980	15537980	C	G	1	0	0	0	0	1	0	0	0	2429	681	24	4		4	CC2D2A	4	15537980	Missense_Mutation	SNP	C	C3N-00549_TP	6956579	15537980	174676575	95	16285											
KDR	0	.	GRCh38	chr4	55104912	55104912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcaaacgtagatctgtctGcagtgcaccacaaagacacg	13	8	8	12	2	3	2	1	0	3	2	4	2	3	2	1	0	3	3	1	0	3	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1718C>A	p.Ala573Glu	p.A573E	ENST00000263923	13/30	165	84	81	148	148	0	strelka-varscan-mutect	KDR,missense_variant,p.Ala573Glu,ENST00000263923,NM_002253.2;KDR,non_coding_transcript_exon_variant,,ENST00000512566,;	T	ENST00000263923	Transcript	missense_variant	2014/5831	1718/4071	573/1356	A/E	gCa/gAa		1		-1	KDR	HGNC	HGNC:6307	protein_coding	YES	CCDS3497.1	ENSP00000263923	P35968	A0A024RD88	UPI000003AE04	NM_002253.2	deleterious(0)		13/30		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	55104912	55104912	G	T	1	0	0	0	0	1	0	0	0	8059	1319	46	2		2	KDR	4	55104912	Missense_Mutation	SNP	G	C3N-00549_TP	39566932	55104912	135109643	96	16286											
KDR	0	.	GRCh38	chr4	55113436	55113436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatttcttcatctcactccCagactgggtttttaggtctc	8	16	6	11	0	4	1	2	0	3	1	7	1	5	1	1	2	0	1	1	2	2	5	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.844G>A	p.Gly282Arg	p.G282R	ENST00000263923	7/30	182	136	46	202	202	0	strelka-varscan-mutect	KDR,missense_variant,p.Gly282Arg,ENST00000263923,NM_002253.2;KDR,non_coding_transcript_exon_variant,,ENST00000512566,;	T	ENST00000263923	Transcript	missense_variant	1140/5831	844/4071	282/1356	G/R	Ggg/Agg		1		-1	KDR	HGNC	HGNC:6307	protein_coding	YES	CCDS3497.1	ENSP00000263923	P35968	A0A024RD88	UPI000003AE04	NM_002253.2	tolerated(0.55)		7/30		Gene3D:2.60.40.10,Pfam_domain:PF00047,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	55113436	55113436	C	T	1	0	0	0	0	1	0	0	0	8059	594	21	3		3	KDR	4	55113436	Missense_Mutation	SNP	C	C3N-00549_TP	8524	55113436	135101119	97	16287											
EPHA5	0	.	GRCh38	chr4	65669625	65669625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagaaggcacgtccagaGgggagcccgtcgaggtgcag	10	3	18	10	3	0	2	0	0	0	2	2	5	1	3	2	5	2	2	2	5	1	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.118C>A	p.Leu40Ile	p.L40I	ENST00000622150	1/18	29	20	9	40	40	0	strelka-varscan-mutect	EPHA5,missense_variant,p.Leu40Ile,ENST00000622150,NM_001281765.1;EPHA5,missense_variant,p.Leu40Ile,ENST00000613740,NM_001281766.1;EPHA5,missense_variant,p.Leu40Ile,ENST00000273854,NM_004439.6;EPHA5,missense_variant,p.Leu40Ile,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Leu40Ile,ENST00000432638,;EPHA5,missense_variant,p.Leu40Ile,ENST00000354839,NM_182472.3;EPHA5-AS1,upstream_gene_variant,,ENST00000509473,;EPHA5-AS1,upstream_gene_variant,,ENST00000514260,;EPHA5-AS1,upstream_gene_variant,,ENST00000507117,;	T	ENST00000622150	Transcript	missense_variant	871/8421	118/3117	40/1038	L/I	Ctc/Atc		1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1	tolerated(0.15)		1/18		PIRSF_domain:PIRSF000666,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1015973614	.												T	3	4	51	65669625	65669625	G	T	1	0	0	0	0	1	0	0	0	5017	1000	35	2		2	EPHA5	4	65669625	Missense_Mutation	SNP	G	C3N-00549_TP	10556189	65669625	124544930	98	16288											
TMPRSS11B	0	.	GRCh38	chr4	68231292	68231292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttccattgcatgctggcCtgccatggccatgccccctc	4	11	8	18	0	0	0	0	0	0	0	2	0	1	0	7	2	4	2	7	2	0	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.597G>C	p.Gln199His	p.Q199H	ENST00000332644	7/10	135	97	38	204	204	0	strelka-varscan-mutect	TMPRSS11B,missense_variant,p.Gln199His,ENST00000332644,NM_182502.3;TMPRSS11B,downstream_gene_variant,,ENST00000502365,;TMPRSS11B,upstream_gene_variant,,ENST00000510856,;	G	ENST00000332644	Transcript	missense_variant	759/2671	597/1251	199/416	Q/H	caG/caC		1		-1	TMPRSS11B	HGNC	HGNC:25398	protein_coding	YES	CCDS3521.1	ENSP00000330475	Q86T26		UPI000013E249	NM_182502.3	deleterious(0)		7/10		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF171,hmmpanther:PTHR24256,PIRSF_domain:PIRSF037941,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	51	68231292	68231292	C	G	1	0	0	0	0	1	0	0	0	16716	680	24	4		4	TMPRSS11B	4	68231292	Missense_Mutation	SNP	C	C3N-00549_TP	2561667	68231292	121983263	99	16289											
GC	0	.	GRCh38	chr4	71756791	71756791	+	Frame_Shift_Del	DEL	G	G	-																															atctggaagctcggggagttGggcagctggcatgaagtaag																								rs747885267		C3N-00549_TP	C3N-00549_NB	G	G																c.1012delC	p.Gln338AsnfsTer8	p.Q338Nfs*8	ENST00000504199	9/14	342	165	177	438	438	0	sindel-varindel-pindel	GC,frameshift_variant,p.Gln319AsnfsTer8,ENST00000273951,NM_000583.3,NM_001204306.1;GC,frameshift_variant,p.Gln338AsnfsTer8,ENST00000504199,NM_001204307.1;GC,frameshift_variant,p.Gln319AsnfsTer8,ENST00000513476,;RNA5SP163,downstream_gene_variant,,ENST00000410304,;GC,non_coding_transcript_exon_variant,,ENST00000503472,;GC,upstream_gene_variant,,ENST00000503364,;GC,frameshift_variant,p.Gln319AsnfsTer8,ENST00000509740,;	-	ENST00000504199	Transcript	frameshift_variant	1107/1777	1012/1482	338/493	Q/X	Caa/aa	rs747885267	1		-1	GC	HGNC	HGNC:4187	protein_coding	YES	CCDS56332.1	ENSP00000421725	P02774		UPI0001D3B4EE	NM_001204307.1			9/14		Pfam_domain:PF00273,PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF11,SMART_domains:SM00103,Superfamily_domains:SSF48552																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	51	71756791	71756791	G	-	1	0	1	0	1	0	0	0	0	6152	1357	47	0		0	GC	4	71756791	Frame_Shift_Del	DEL	G	C3N-00549_TP	3525499	71756791	118457764	100	16290											
RASGEF1B	0	.	GRCh38	chr4	81432342	81432342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctatatgattttcaggtcCttcactctcataagaagcca	11	14	5	11	0	4	2	3	1	2	1	6	2	5	2	2	1	1	0	2	1	4	6	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1354G>A	p.Gly452Arg	p.G452R	ENST00000264400	13/14	145	107	38	91	91	0	strelka-varscan-mutect	RASGEF1B,missense_variant,p.Gly451Arg,ENST00000509081,NM_001300735.1;RASGEF1B,missense_variant,p.Gly539Arg,ENST00000638048,;RASGEF1B,missense_variant,p.Gly452Arg,ENST00000264400,NM_152545.2;RASGEF1B,missense_variant,p.Gly410Arg,ENST00000335927,NM_001300736.1;RASGEF1B,downstream_gene_variant,,ENST00000504863,;	T	ENST00000264400	Transcript	missense_variant	1506/2277	1354/1422	452/473	G/R	Gga/Aga		1		-1	RASGEF1B	HGNC	HGNC:24881	protein_coding	YES	CCDS34022.1	ENSP00000264400	Q0VAM2		UPI0000044685	NM_152545.2	deleterious(0.03)		13/14		PROSITE_profiles:PS50009,hmmpanther:PTHR23113:SF197,hmmpanther:PTHR23113,SMART_domains:SM00147,Superfamily_domains:0041591																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	51	81432342	81432342	C	T	1	0	0	0	0	1	0	0	0	13231	690	24	3		3	RASGEF1B	4	81432342	Missense_Mutation	SNP	C	C3N-00549_TP	9675551	81432342	108782213	101	16291											
RP11-766F14.2	0	.	GRCh38	chr4	99651893	99651893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaatttcacacacttctGtgtgtccatcggtgaaattc	9	17	6	9	1	2	1	1	1	1	0	5	1	3	1	1	1	0	0	1	1	2	5	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.2756C>A	p.Thr919Lys	p.T919K	ENST00000511828	1/2	122	43	79	168	168	0	strelka-varscan-mutect	RP11-766F14.2,missense_variant,p.Thr919Lys,ENST00000511828,;	T	ENST00000511828	Transcript	missense_variant	2756/10086	2756/5382	919/1793	T/K	aCa/aAa		1		-1	RP11-766F14.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000427555		D6RIA3	UPI0001D3B6FE		tolerated(0.83)		1/2																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	99651893	99651893	G	T	1	0	0	0	0	1	0	0	0	13762	1377	48	2		2	RP11-766F14.2	4	99651893	Missense_Mutation	SNP	G	C3N-00549_TP	18219551	99651893	90562662	102	16292											
ANK2	0	.	GRCh38	chr4	113336635	113336636	+	Frame_Shift_Ins	INS	-	-	A																															ggcaacaaagctaccttcagINSccctatagtcactttggaac																								novel		C3N-00549_TP	C3N-00549_NB	-	-																c.3650_3651insA	p.Ser1217ArgfsTer9	p.S1217Rfs*9	ENST00000357077	31/46	233	85	148	464	464	0	sindel-varindel	ANK2,frameshift_variant,p.Ser1217ArgfsTer9,ENST00000357077,NM_001148.4;ANK2,frameshift_variant,p.Ser1184ArgfsTer9,ENST00000264366,;ANK2,frameshift_variant,p.Ser1208ArgfsTer9,ENST00000506722,NM_001127493.1;ANK2,frameshift_variant,p.Ser1217ArgfsTer9,ENST00000394537,NM_020977.3;ANK2,frameshift_variant,p.Ser1232ArgfsTer9,ENST00000504454,;ANK2,frameshift_variant,p.Ser230ArgfsTer9,ENST00000514960,;ANK2,frameshift_variant,p.Ser1130ArgfsTer9,ENST00000503423,;ANK2,frameshift_variant,p.Ser393ArgfsTer9,ENST00000509550,;ANK2,frameshift_variant,p.Ser1188ArgfsTer?,ENST00000634436,;ANK2,downstream_gene_variant,,ENST00000503271,;ANK2,non_coding_transcript_exon_variant,,ENST00000504887,;ANK2,downstream_gene_variant,,ENST00000514160,;	A	ENST00000357077	Transcript	frameshift_variant	3703-3704/14196	3650-3651/11874	1217/3957	S/RX	agc/agAc		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4			31/46		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,Pfam_domain:PF00791																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	51	113336635	113336635	-	A	1	0	1	1	0	0	0	0	0	721	971	34	0		0	ANK2	4	113336635	Frame_Shift_Ins	INS	-	C3N-00549_TP	13684742	113336635	76877920	103	16293	351	2									
ANK2	0	.	GRCh38	chr4	113336636	113336636	+	Missense_Mutation	SNP	C	C	A																															ggcaacaaagctaccttcagCcctatagtcactttggaacc																								novel		C3N-00549_TP	C3N-00549_NB	C	C																c.3651C>A	p.Ser1217Arg	p.S1217R	ENST00000357077	31/46	260	98	162	471	471	0	strelka-mutect	ANK2,missense_variant,p.Ser1217Arg,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Ser1184Arg,ENST00000264366,;ANK2,missense_variant,p.Ser1208Arg,ENST00000506722,NM_001127493.1;ANK2,missense_variant,p.Ser1217Arg,ENST00000394537,NM_020977.3;ANK2,missense_variant,p.Ser1232Arg,ENST00000504454,;ANK2,missense_variant,p.Ser230Arg,ENST00000514960,;ANK2,missense_variant,p.Ser1130Arg,ENST00000503423,;ANK2,missense_variant,p.Ser393Arg,ENST00000509550,;ANK2,missense_variant,p.Ser1188Arg,ENST00000634436,;ANK2,downstream_gene_variant,,ENST00000503271,;ANK2,non_coding_transcript_exon_variant,,ENST00000504887,;ANK2,downstream_gene_variant,,ENST00000514160,;	A	ENST00000357077	Transcript	missense_variant	3704/14196	3651/11874	1217/3957	S/R	agC/agA		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	deleterious(0)		31/46		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,Pfam_domain:PF00791																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	113336636	113336636	C	A	1	0	0	0	0	1	0	0	0	721	738	26	2		2	ANK2	4	113336636	Missense_Mutation	SNP	C	C3N-00549_TP	1	113336636	76877919	104	16294	351	2									
ANK2	0	.	GRCh38	chr4	113353671	113353671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggaaagacatacccccaGatgagacacagagtacacag	18	3	10	10	0	0	4	0	1	0	4	0	6	0	5	2	1	2	1	2	1	4	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.5053G>T	p.Asp1685Tyr	p.D1685Y	ENST00000357077	38/46	130	41	89	169	169	0	strelka-varscan-mutect	ANK2,missense_variant,p.Asp1685Tyr,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Asp1652Tyr,ENST00000264366,;ANK2,missense_variant,p.Asp1700Tyr,ENST00000504454,;ANK2,missense_variant,p.Asp1598Tyr,ENST00000503423,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000612754,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	T	ENST00000357077	Transcript	missense_variant	5106/14196	5053/11874	1685/3957	D/Y	Gat/Tat		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	deleterious_low_confidence(0.01)		38/46		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	113353671	113353671	G	T	1	0	0	0	0	1	0	0	0	721	942	33	2		2	ANK2	4	113353671	Missense_Mutation	SNP	G	C3N-00549_TP	17035	113353671	76860884	105	16295											
ANK2	0	.	GRCh38	chr4	113358695	113358695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctccaaagagttgaacaGcagctctcagatctagacac	13	7	7	14	0	2	4	1	1	2	3	4	4	3	4	3	0	3	3	3	0	3	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.10077G>T	p.Gln3359His	p.Q3359H	ENST00000357077	38/46	122	33	89	153	153	0	strelka-varscan-mutect	ANK2,missense_variant,p.Gln3359His,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Gln3326His,ENST00000264366,;ANK2,missense_variant,p.Gln369His,ENST00000505342,;ANK2,3_prime_UTR_variant,,ENST00000612754,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;	T	ENST00000357077	Transcript	missense_variant	10130/14196	10077/11874	3359/3957	Q/H	caG/caT		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	tolerated_low_confidence(0.1)		38/46		hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	113358695	113358695	G	T	1	0	0	0	0	1	0	0	0	721	962	34	2		2	ANK2	4	113358695	Missense_Mutation	SNP	G	C3N-00549_TP	5024	113358695	76855860	106	16296											
FREM3	0	.	GRCh38	chr4	143695760	143695760	+	Missense_Mutation	SNP	G	G	T																															gaggtttgtgtgtcgccaggGcagtgtctggtaggacatag																								novel		C3N-00549_TP	C3N-00549_NB	G	G																c.4916C>A	p.Ala1639Asp	p.A1639D	ENST00000329798	1/8	154	46	108	243	243	0	strelka-varscan-mutect	FREM3,missense_variant,p.Ala1639Asp,ENST00000329798,NM_001168235.1;RP13-578N3.3,upstream_gene_variant,,ENST00000499587,;	T	ENST00000329798	Transcript	missense_variant	4916/6729	4916/6420	1639/2139	A/D	gCc/gAc		1		-1	FREM3	HGNC	HGNC:25172	protein_coding	YES	CCDS54808.1	ENSP00000332886	P0C091		UPI0000D615C2	NM_001168235.1	tolerated(0.28)		1/8		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF31																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	51	143695760	143695760	G	T	1	0	0	0	0	1	0	0	0	5913	1203	42	2		2	FREM3	4	143695760	Missense_Mutation	SNP	G	C3N-00549_TP	30337065	143695760	46518795	107	16297	352	2									
FREM3	0	.	GRCh38	chr4	143695761	143695761	+	Missense_Mutation	SNP	C	C	T																															aggtttgtgtgtcgccagggCagtgtctggtaggacataga																								novel		C3N-00549_TP	C3N-00549_NB	C	C																c.4915G>A	p.Ala1639Thr	p.A1639T	ENST00000329798	1/8	153	45	108	245	245	0	strelka-varscan-mutect	FREM3,missense_variant,p.Ala1639Thr,ENST00000329798,NM_001168235.1;RP13-578N3.3,upstream_gene_variant,,ENST00000499587,;	T	ENST00000329798	Transcript	missense_variant	4915/6729	4915/6420	1639/2139	A/T	Gcc/Acc		1		-1	FREM3	HGNC	HGNC:25172	protein_coding	YES	CCDS54808.1	ENSP00000332886	P0C091		UPI0000D615C2	NM_001168235.1	tolerated(0.38)		1/8		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF31																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	51	143695761	143695761	C	T	1	0	0	0	0	1	0	0	0	5913	710	25	3		3	FREM3	4	143695761	Missense_Mutation	SNP	C	C3N-00549_TP	1	143695761	46518794	108	16298	352	2									
GYPB	0	.	GRCh38	chr4	144001268	144001268	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtggtacttaatgctGatatgctcacaatttctgta	10	15	7	9	0	3	1	2	1	1	0	3	1	3	1	1	1	3	4	1	1	5	5	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.53C>A	p.Ser18Ter	p.S18*	ENST00000502664	2/5	278	106	172	463	462	1	strelka-varscan-mutect	GYPB,stop_gained,p.Ser18Ter,ENST00000502664,NM_002100.5,NM_001304382.1;GYPB,stop_gained,p.Ser18Ter,ENST00000429670,;GYPB,intron_variant,,ENST00000513128,;RP11-673E1.4,intron_variant,,ENST00000506982,;GYPB,non_coding_transcript_exon_variant,,ENST00000510196,;GYPB,non_coding_transcript_exon_variant,,ENST00000507009,;GYPB,intron_variant,,ENST00000513557,;GYPB,intron_variant,,ENST00000513677,;GYPB,3_prime_UTR_variant,,ENST00000504951,;GYPB,3_prime_UTR_variant,,ENST00000506679,;GYPB,3_prime_UTR_variant,,ENST00000505583,;GYPB,3_prime_UTR_variant,,ENST00000506516,;GYPB,3_prime_UTR_variant,,ENST00000511198,;GYPB,non_coding_transcript_exon_variant,,ENST00000508841,;GYPB,non_coding_transcript_exon_variant,,ENST00000503255,;GYPB,non_coding_transcript_exon_variant,,ENST00000508618,;	T	ENST00000502664	Transcript	stop_gained	105/521	53/276	18/91	S/*	tCa/tAa		1		-1	GYPB	HGNC	HGNC:4703	protein_coding	YES	CCDS54809.1	ENSP00000427690	P06028		UPI000016A9BA	NM_002100.5,NM_001304382.1			2/5		Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR13813,hmmpanther:PTHR13813:SF2																	HIGH	1	SNV	1			1										PASS		rs757056176	.												T	4	4	51	144001268	144001268	G	T	1	0	0	0	0	0	1	0	0	6791	1294	45	2		2	GYPB	4	144001268	Nonsense_Mutation	SNP	G	C3N-00549_TP	305507	144001268	46213287	109	16299											
DCHS2	0	.	GRCh38	chr4	154235774	154235774	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgatttgggactatgagCgattattttcatttccaagg	10	16	9	6	1	2	2	1	2	1	0	3	4	3	3	1	2	1	0	1	2	3	6	rs749501585		C3N-00549_TP	C3N-00549_NB	C	C																c.7513G>C	p.Ala2505Pro	p.A2505P	ENST00000623607	25/25	97	32	65	138	138	0	strelka-varscan-mutect	DCHS2,missense_variant,p.Ala2505Pro,ENST00000357232,;DCHS2,missense_variant,p.Ala2505Pro,ENST00000623607,NM_017639.3;RP11-290O12.2,intron_variant,,ENST00000624941,;RP11-290O12.2,intron_variant,,ENST00000623325,;RP11-9N12.2,upstream_gene_variant,,ENST00000625026,;	G	ENST00000623607	Transcript	missense_variant	7513/8912	7513/8751	2505/2916	A/P	Gct/Cct	rs749501585	1		-1	DCHS2	HGNC	HGNC:23111	protein_coding	YES	CCDS3785.1	ENSP00000485514	Q6V1P9		UPI000035B018	NM_017639.3	deleterious(0)		25/25		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF305,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs749501585	.												G	3	3	51	154235774	154235774	C	G	1	0	0	0	0	1	0	0	0	4091	768	27	4		4	DCHS2	4	154235774	Missense_Mutation	SNP	C	C3N-00549_TP	10234506	154235774	35978781	110	16300											
CYP4V2	0	.	GRCh38	chr4	186210561	186210561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagaaaagagaagagcttGgtctagaaggacagttgatt	16	8	12	5	0	1	5	0	1	1	4	1	7	1	6	1	2	1	2	1	2	5	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1498G>T	p.Gly500Cys	p.G500C	ENST00000378802	11/11	201	50	151	244	243	1	strelka-varscan-mutect	CYP4V2,missense_variant,p.Gly500Cys,ENST00000378802,NM_207352.3;KLKB1,intron_variant,,ENST00000511608,;CYP4V2,non_coding_transcript_exon_variant,,ENST00000502665,;CYP4V2,non_coding_transcript_exon_variant,,ENST00000513354,;CYP4V2,non_coding_transcript_exon_variant,,ENST00000507209,;	T	ENST00000378802	Transcript	missense_variant	1802/2042	1498/1578	500/525	G/C	Ggt/Tgt		1		1	CYP4V2	HGNC	HGNC:23198	protein_coding	YES	CCDS34119.1	ENSP00000368079	Q6ZWL3		UPI00002372FE	NM_207352.3	tolerated(0.07)		11/11		hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF56,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	186210561	186210561	G	T	1	0	0	0	0	1	0	0	0	3995	1348	47	2		2	CYP4V2	4	186210561	Missense_Mutation	SNP	G	C3N-00549_TP	31974787	186210561	4003994	111	16301											
TERT	0	.	GRCh38	chr5	1294469	1294469	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcccacgcggcgcagcagCagcccccacgccccgctccc	5	2	10	24	6	0	0	0	0	0	0	2	0	1	0	6	1	3	4	6	1	0	0	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.417G>T	p.=	p.L139L	ENST00000310581	2/16	335	201	134	428	427	1	strelka-varscan-mutect	TERT,synonymous_variant,p.=,ENST00000310581,NM_198253.2;TERT,synonymous_variant,p.=,ENST00000334602,NM_001193376.1;TERT,synonymous_variant,p.=,ENST00000508104,;TERT,downstream_gene_variant,,ENST00000522877,;TERT,synonymous_variant,p.=,ENST00000460137,;	A	ENST00000310581	Transcript	synonymous_variant	475/4018	417/3399	139/1132	L	ctG/ctT		1		-1	TERT	HGNC	HGNC:11730	protein_coding	YES	CCDS3861.2	ENSP00000309572	O14746		UPI0000031309	NM_198253.2			2/16		hmmpanther:PTHR12066,hmmpanther:PTHR12066:SF0,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1027515033	.												A	2	1	51	1294469	1294469	C	A	1	0	0	0	0	0	0	0	1	16183	697	25	2		2	TERT	5	1294469	Silent	SNP	C	C3N-00549_TP		1294469	180243790	112	16302											
SEMA5A	0	.	GRCh38	chr5	9154509	9154509	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgtgcggtagaactggCacctcttcagggggatcttg	6	11	15	9	2	3	1	1	0	2	1	3	2	3	2	1	4	3	2	1	4	2	3			C3N-00549_TP	C3N-00549_NB	C	C																c.1460G>T	p.Cys487Phe	p.C487F	ENST00000382496	12/23	256	168	88	238	237	1	strelka-varscan-mutect	SEMA5A,missense_variant,p.Cys487Phe,ENST00000382496,NM_003966.2;	A	ENST00000382496	Transcript	missense_variant	2126/11762	1460/3225	487/1074	C/F	tGc/tTc	COSM213421	1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2	deleterious(0)		12/23		hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF78,Gene3D:3.30.1680.10,SMART_domains:SM00423,Superfamily_domains:SSF101912,Superfamily_domains:SSF103575											1						MODERATE	1	SNV	1		1	1										PASS		rs1221069422	.												A	3	1	51	9154509	9154509	C	A	1	0	0	0	0	1	0	0	0	14313	710	25	2		2	SEMA5A	5	9154509	Missense_Mutation	SNP	C	C3N-00549_TP	7860040	9154509	172383750	113	16303											
SEMA5A	0	.	GRCh38	chr5	9379880	9379880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagtcgtaccctgggcctCtgggtgggcgagtctccaca	5	9	14	13	2	2	1	0	1	2	0	4	2	2	1	3	3	1	1	3	3	1	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.67G>A	p.Glu23Lys	p.E23K	ENST00000382496	3/23	161	111	50	165	164	1	strelka-varscan-mutect	SEMA5A,missense_variant,p.Glu23Lys,ENST00000382496,NM_003966.2;SEMA5A,missense_variant,p.Glu23Lys,ENST00000513968,;CTD-2201E9.4,intron_variant,,ENST00000511310,;SEMA5A,non_coding_transcript_exon_variant,,ENST00000509486,;	T	ENST00000382496	Transcript	missense_variant	733/11762	67/3225	23/1074	E/K	Gag/Aag		1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2	tolerated_low_confidence(0.18)		3/23		hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF78																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	9379880	9379880	C	T	1	0	0	0	0	1	0	0	0	14313	922	32	3		3	SEMA5A	5	9379880	Missense_Mutation	SNP	C	C3N-00549_TP	225371	9379880	172158379	114	16304											
ADAMTS12	0	.	GRCh38	chr5	33588664	33588664	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgcaggaaaggagggTcttgggcttcagcaggtgct	7	11	16	7	0	3	0	1	0	2	0	3	2	3	2	0	5	3	5	0	5	1	3	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.2800A>G	p.Thr934Ala	p.T934A	ENST00000504830	18/24	238	150	88	304	304	0	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Thr934Ala,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Thr849Ala,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	C	ENST00000504830	Transcript	missense_variant	3136/8774	2800/4785	934/1594	T/A	Acc/Gcc		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	tolerated(0.93)		18/24		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	51	33588664	33588664	T	C	1	0	0	0	0	1	0	0	0	301	1667	58	5		5	ADAMTS12	5	33588664	Missense_Mutation	SNP	T	C3N-00549_TP	24208784	33588664	147949595	115	16305											
AGXT2	0	.	GRCh38	chr5	35039438	35039438	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggagcagcaggggtttcTggaaatatgccgtcaccaca	10	8	14	9	1	2	0	1	0	1	0	2	2	2	2	2	5	3	3	2	5	2	2	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.248A>T	p.Gln83Leu	p.Q83L	ENST00000231420	3/14	283	172	111	192	192	0	strelka-varscan-mutect	AGXT2,missense_variant,p.Gln83Leu,ENST00000231420,NM_031900.3;AGXT2,missense_variant,p.Gln83Leu,ENST00000618015,;AGXT2,missense_variant,p.Gln83Leu,ENST00000510428,;AGXT2,non_coding_transcript_exon_variant,,ENST00000505542,;	A	ENST00000231420	Transcript	missense_variant	449/2364	248/1545	83/514	Q/L	cAg/cTg		1		-1	AGXT2	HGNC	HGNC:14412	protein_coding	YES	CCDS3908.1	ENSP00000231420	Q9BYV1		UPI0000125709	NM_031900.3	deleterious(0.01)		3/14		hmmpanther:PTHR11986,hmmpanther:PTHR11986:SF58,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	35039438	35039438	T	A	1	0	0	0	0	1	0	0	0	484	1580	55	4		4	AGXT2	5	35039438	Missense_Mutation	SNP	T	C3N-00549_TP	1450774	35039438	146498821	116	16306											
DAB2	0	.	GRCh38	chr5	39376966	39376966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagtgcatggatgggggCtgagtggacacagcaggagc	10	5	20	6	0	0	1	0	1	0	0	0	6	0	5	0	6	3	3	0	6	0	0	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1821G>T	p.Gln607His	p.Q607H	ENST00000320816	12/15	351	211	140	281	281	0	strelka-varscan-mutect	DAB2,missense_variant,p.Gln586His,ENST00000545653,NM_001244871.1;DAB2,missense_variant,p.Gln607His,ENST00000320816,NM_001343.3;DAB2,missense_variant,p.Gln389His,ENST00000339788,;DAB2,missense_variant,p.Gln586His,ENST00000509337,;C9,intron_variant,,ENST00000483232,;DAB2,upstream_gene_variant,,ENST00000502879,;	A	ENST00000320816	Transcript	missense_variant	2289/4534	1821/2313	607/770	Q/H	caG/caT		1		-1	DAB2	HGNC	HGNC:2662	protein_coding	YES	CCDS34149.1	ENSP00000313391	P98082	A0A024R036	UPI0000169E27	NM_001343.3	tolerated(0.13)		12/15		hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF30																	MODERATE	1	SNV	1			1										PASS		rs1297766147	.												A	3	1	51	39376966	39376966	C	A	1	0	0	0	0	1	0	0	0	4019	796	28	2		2	DAB2	5	39376966	Missense_Mutation	SNP	C	C3N-00549_TP	4337528	39376966	142161293	117	16307											
CARD6	0	.	GRCh38	chr5	40853864	40853864	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttgaaaggtctagggcAgtagcctccaagataggtca	12	9	11	9	0	3	2	1	1	2	1	4	2	4	2	2	3	1	2	2	3	5	4	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.2532A>G	p.=	p.A844A	ENST00000254691	3/3	312	201	111	205	205	0	strelka-varscan-mutect	CARD6,synonymous_variant,p.=,ENST00000254691,NM_032587.3;CARD6,intron_variant,,ENST00000381677,;	G	ENST00000254691	Transcript	synonymous_variant	2731/4221	2532/3114	844/1037	A	gcA/gcG		1		1	CARD6	HGNC	HGNC:16394	protein_coding	YES	CCDS3935.1	ENSP00000254691	Q9BX69		UPI000013CE50	NM_032587.3			3/3																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	51	40853864	40853864	A	G	1	0	0	0	0	0	0	0	1	2346	175	7	5		5	CARD6	5	40853864	Silent	SNP	A	C3N-00549_TP	1476898	40853864	140684395	118	16308											
C6	0	.	GRCh38	chr5	41158677	41158677	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtttaggatgctgacccgGataaatccattttctggagg	10	12	12	7	1	1	1	0	1	1	0	2	4	2	4	2	5	1	2	2	5	3	5			C3N-00549_TP	C3N-00549_NB	G	G																c.1965C>A	p.=	p.I655I	ENST00000263413	13/18	378	250	128	314	313	1	strelka-varscan-mutect	C6,synonymous_variant,p.=,ENST00000263413,NM_001115131.2;C6,synonymous_variant,p.=,ENST00000337836,NM_000065.3;C6,downstream_gene_variant,,ENST00000475349,;C6,upstream_gene_variant,,ENST00000461473,;C6,downstream_gene_variant,,ENST00000473450,;C6,non_coding_transcript_exon_variant,,ENST00000511470,;	T	ENST00000263413	Transcript	synonymous_variant	2230/3661	1965/2805	655/934	I	atC/atA	COSM3616604,COSM5351199	1		-1	C6	HGNC	HGNC:1339	protein_coding	YES	CCDS3936.1	ENSP00000263413	P13671		UPI000013D401	NM_001115131.2			13/18		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	51	41158677	41158677	G	T	1	0	0	0	0	0	0	0	1	2111	1188	41	2		2	C6	5	41158677	Silent	SNP	G	C3N-00549_TP	304813	41158677	140379582	119	16309											
PAIP1	0	.	GRCh38	chr5	43555986	43555986	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaactaggtggagctctcagGggcctcgtttgctctgcaaa	8	10	13	10	1	2	0	1	0	2	0	4	2	2	1	1	4	4	4	1	4	3	2	rs757134803		C3N-00549_TP	C3N-00549_NB	G	G																c.279C>T	p.=	p.P93P	ENST00000306846	2/11	117	72	45	112	112	0	strelka-varscan-mutect	PAIP1,synonymous_variant,p.=,ENST00000306846,NM_006451.4;PAIP1,synonymous_variant,p.=,ENST00000436644,NM_182789.3;PAIP1,synonymous_variant,p.=,ENST00000514514,;PAIP1,5_prime_UTR_variant,,ENST00000338972,NM_183323.2;PAIP1,5_prime_UTR_variant,,ENST00000508537,;PAIP1,5_prime_UTR_variant,,ENST00000511321,;PAIP1,intron_variant,,ENST00000515338,;PAIP1,intron_variant,,ENST00000504075,;PAIP1,synonymous_variant,p.=,ENST00000504639,;	A	ENST00000306846	Transcript	synonymous_variant	512/2782	279/1440	93/479	P	ccC/ccT	rs757134803,COSM3855376	1		-1	PAIP1	HGNC	HGNC:16945	protein_coding	YES	CCDS3947.1	ENSP00000302768	Q9H074		UPI00000728C0	NM_006451.4			2/11		hmmpanther:PTHR23254,hmmpanther:PTHR23254:SF15											0,1						LOW	1	SNV	1		0,1	1										PASS		rs757134803	.												A	2	1	51	43555986	43555986	G	A	1	0	0	0	0	0	0	0	1	11476	1219	43	3		3	PAIP1	5	43555986	Silent	SNP	G	C3N-00549_TP	2397309	43555986	137982273	120	16310											
HCN1	0	.	GRCh38	chr5	45645426	45645426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtccaggatgatttcagaaCtgtcttcattgacagtccca	10	12	9	10	0	3	3	2	2	1	1	5	4	5	4	2	2	1	0	2	2	1	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.608G>T	p.Ser203Ile	p.S203I	ENST00000303230	2/8	205	124	81	158	158	0	strelka-varscan-mutect	HCN1,missense_variant,p.Ser203Ile,ENST00000303230,NM_021072.3;HCN1,missense_variant,p.Ser203Ile,ENST00000634658,;HCN1,upstream_gene_variant,,ENST00000637256,;	A	ENST00000303230	Transcript	missense_variant	849/9885	608/2673	203/890	S/I	aGt/aTt		1		-1	HCN1	HGNC	HGNC:4845	protein_coding	YES	CCDS3952.1	ENSP00000307342	O60741		UPI00001AED69	NM_021072.3	deleterious(0)		2/8		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	45645426	45645426	C	A	1	0	0	0	0	1	0	0	0	6883	565	20	2		2	HCN1	5	45645426	Missense_Mutation	SNP	C	C3N-00549_TP	2089440	45645426	135892833	121	16311											
VCAN	0	.	GRCh38	chr5	83521248	83521248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctgtaattcccaagaCagactggggagtgttagtac	10	13	10	8	0	2	2	0	0	2	2	3	3	3	3	1	2	1	3	1	2	4	5	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.2942C>G	p.Thr981Arg	p.T981R	ENST00000265077	7/15	77	26	51	103	103	0	strelka-varscan-mutect	VCAN,missense_variant,p.Thr981Arg,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Thr981Arg,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Thr933Arg,ENST00000512590,;VCAN,intron_variant,,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,intron_variant,,ENST00000515397,;	G	ENST00000265077	Transcript	missense_variant	3507/12625	2942/10191	981/3396	T/R	aCa/aGa		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	tolerated(0.19)		7/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	51	83521248	83521248	C	G	1	0	0	0	0	1	0	0	0	17683	478	17	4		4	VCAN	5	83521248	Missense_Mutation	SNP	C	C3N-00549_TP	37875822	83521248	98017011	122	16312											
APC	0	.	GRCh38	chr5	112839111	112839111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgaagagaaacgtcatGtggatcagcctattgattat	15	12	9	5	1	2	3	2	2	0	1	2	5	2	4	1	1	2	0	1	1	5	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.3517G>T	p.Val1173Leu	p.V1173L	ENST00000257430	16/16	238	94	144	232	232	0	strelka-varscan-mutect	APC,missense_variant,p.Val1173Leu,ENST00000257430,NM_000038.5;APC,missense_variant,p.Val1173Leu,ENST00000508376,NM_001127510.2;APC,missense_variant,p.Val1173Leu,ENST00000512211,;APC,downstream_gene_variant,,ENST00000507379,NM_001127511.2;APC,downstream_gene_variant,,ENST00000504915,;APC,3_prime_UTR_variant,,ENST00000508624,;APC,3_prime_UTR_variant,,ENST00000502371,;CTC-554D6.1,intron_variant,,ENST00000520401,;	T	ENST00000257430	Transcript	missense_variant	3573/10701	3517/8532	1173/2843	V/L	Gtg/Ttg		1		1	APC	HGNC	HGNC:583	protein_coding	YES	CCDS4107.1	ENSP00000257430	P25054		UPI000013CF60	NM_000038.5	tolerated_low_confidence(0.35)		16/16		Pfam_domain:PF05972,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	51	112839111	112839111	G	T	1	0	0	0	0	1	0	0	0	883	1377	48	2		2	APC	5	112839111	Missense_Mutation	SNP	G	C3N-00549_TP	29317863	112839111	68699148	123	16313											
APC	0	.	GRCh38	chr5	112839558	112839558	+	Frame_Shift_Del	DEL	G	G	-																															cagctgaagatcctgtgagcGaagttccagcagtgtcacag																								rs752926571		C3N-00549_TP	C3N-00549_NB	G	G																c.3964delG	p.Glu1322LysfsTer93	p.E1322Kfs*93	ENST00000257430	16/16	355	116	239	503	502	1	sindel-varindel-pindel	APC,frameshift_variant,p.Glu1322LysfsTer93,ENST00000257430,NM_000038.5;APC,frameshift_variant,p.Glu1322LysfsTer93,ENST00000508376,NM_001127510.2;APC,downstream_gene_variant,,ENST00000512211,;APC,downstream_gene_variant,,ENST00000507379,NM_001127511.2;APC,downstream_gene_variant,,ENST00000504915,;APC,3_prime_UTR_variant,,ENST00000508624,;APC,3_prime_UTR_variant,,ENST00000502371,;CTC-554D6.1,intron_variant,,ENST00000520401,;	-	ENST00000257430	Transcript	frameshift_variant	4020/10701	3964/8532	1322/2843	E/X	Gaa/aa	rs752926571,COSM18702,COSM4169380	1		1	APC	HGNC	HGNC:583	protein_coding	YES	CCDS4107.1	ENSP00000257430	P25054		UPI000013CF60	NM_000038.5			16/16		Pfam_domain:PF16633,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11											0,1,1						HIGH		deletion	5		0,1,1	1										PASS		.	.												-	7	5	51	112839558	112839558	G	-	1	0	1	0	1	0	0	0	0	883	1059	37	0		0	APC	5	112839558	Frame_Shift_Del	DEL	G	C3N-00549_TP	447	112839558	68698701	124	16314											
FAM170A	0	.	GRCh38	chr5	119634420	119634420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgactggctggtgaccatGgagaacggcttcaggtgcat	8	9	14	10	1	1	3	1	2	0	1	1	4	1	3	2	5	2	3	2	5	1	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.672G>T	p.Met224Ile	p.M224I	ENST00000613773	3/5	167	58	109	201	201	0	strelka-varscan-mutect	FAM170A,missense_variant,p.Met224Ile,ENST00000613773,NM_182761.3;FAM170A,missense_variant,p.Met177Ile,ENST00000620555,NM_001163991.1;FAM170A,missense_variant,p.Met224Ile,ENST00000515256,;FAM170A,intron_variant,,ENST00000509264,;FAM170A,missense_variant,p.Met224Ile,ENST00000335286,;FAM170A,missense_variant,p.Met177Ile,ENST00000504819,;FAM170A,missense_variant,p.Met177Ile,ENST00000379555,;HSD17B4,intron_variant,,ENST00000515235,;	T	ENST00000613773	Transcript	missense_variant	882/1374	672/990	224/329	M/I	atG/atT		1		1	FAM170A	HGNC	HGNC:27963	protein_coding	YES	CCDS43353.1	ENSP00000482552	A1A519		UPI00001C1E37	NM_182761.3	tolerated(0.18)		3/5		hmmpanther:PTHR33517:SF3,hmmpanther:PTHR33517																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	119634420	119634420	G	T	1	0	0	0	0	1	0	0	0	5335	1348	47	2		2	FAM170A	5	119634420	Missense_Mutation	SNP	G	C3N-00549_TP	6794862	119634420	61903839	125	16315											
MATR3	0	.	GRCh38	chr5	139307449	139307449	+	Missense_Mutation	SNP	A	A	G																															tccagcagtcatctctcagtAgggactcacagggtcatggg																								novel		C3N-00549_TP	C3N-00549_NB	A	A																c.34A>G	p.Arg12Gly	p.R12G	ENST00000618441	2/15	78	30	48	137	135	2	strelka-varscan	MATR3,missense_variant,p.Arg12Gly,ENST00000394800,;MATR3,missense_variant,p.Arg12Gly,ENST00000618441,NM_001194955.1;MATR3,missense_variant,p.Arg12Gly,ENST00000394805,NM_018834.5;MATR3,missense_variant,p.Arg12Gly,ENST00000502929,;MATR3,missense_variant,p.Arg12Gly,ENST00000361059,NM_199189.2;MATR3,missense_variant,p.Arg12Gly,ENST00000509990,NM_001194954.1;MATR3,missense_variant,p.Arg12Gly,ENST00000620916,;MATR3,missense_variant,p.Arg12Gly,ENST00000510056,;MATR3,missense_variant,p.Arg12Gly,ENST00000504045,;MATR3,missense_variant,p.Arg12Gly,ENST00000504023,;MATR3,missense_variant,p.Arg12Gly,ENST00000503340,;MATR3,missense_variant,p.Arg12Gly,ENST00000505016,;MATR3,missense_variant,p.Arg12Gly,ENST00000514694,;MATR3,missense_variant,p.Arg12Gly,ENST00000514488,;MATR3,missense_variant,p.Arg12Gly,ENST00000508689,;MATR3,intron_variant,,ENST00000502499,;MATR3,intron_variant,,ENST00000503811,NM_001194956.1;MATR3,intron_variant,,ENST00000504203,NM_001282278.1;MATR3,intron_variant,,ENST00000509644,;MATR3,intron_variant,,ENST00000506147,;MATR3,intron_variant,,ENST00000512107,;MATR3,intron_variant,,ENST00000512876,;MATR3,intron_variant,,ENST00000514528,;MATR3,intron_variant,,ENST00000511249,;MATR3,intron_variant,,ENST00000513678,;MATR3,intron_variant,,ENST00000504311,;MATR3,upstream_gene_variant,,ENST00000515833,;MATR3,downstream_gene_variant,,ENST00000511378,;MATR3,intron_variant,,ENST00000511978,;MATR3,intron_variant,,ENST00000509918,;MATR3,missense_variant,p.Arg12Gly,ENST00000502394,;MATR3,intron_variant,,ENST00000504643,;MATR3,intron_variant,,ENST00000513121,;MATR3,intron_variant,,ENST00000507860,;MATR3,upstream_gene_variant,,ENST00000505625,;MATR3,upstream_gene_variant,,ENST00000514402,;	G	ENST00000618441	Transcript	missense_variant	490/5282	34/2544	12/847	R/G	Agg/Ggg		1		1	MATR3	EntrezGene	HGNC:6912	protein_coding	YES	CCDS4210.1	ENSP00000482895			UPI0000000DEE	NM_001194955.1	deleterious_low_confidence(0)		2/15		hmmpanther:PTHR15592																	MODERATE		SNV	1			1										PASS		.	.												G	3	3	51	139307449	139307449	A	G	1	0	0	0	0	1	0	0	0	9263	411	15	5		5	MATR3	5	139307449	Missense_Mutation	SNP	A	C3N-00549_TP	19673029	139307449	42230810	126	16316	353	2									
MATR3	0	.	GRCh38	chr5	139307451	139307451	+	Missense_Mutation	SNP	G	G	T																															cagcagtcatctctcagtagGgactcacagggtcatgggcg																								novel		C3N-00549_TP	C3N-00549_NB	G	G																c.36G>T	p.Arg12Ser	p.R12S	ENST00000618441	2/15	78	30	48	136	136	0	strelka-varscan	MATR3,missense_variant,p.Arg12Ser,ENST00000394800,;MATR3,missense_variant,p.Arg12Ser,ENST00000618441,NM_001194955.1;MATR3,missense_variant,p.Arg12Ser,ENST00000394805,NM_018834.5;MATR3,missense_variant,p.Arg12Ser,ENST00000502929,;MATR3,missense_variant,p.Arg12Ser,ENST00000361059,NM_199189.2;MATR3,missense_variant,p.Arg12Ser,ENST00000509990,NM_001194954.1;MATR3,missense_variant,p.Arg12Ser,ENST00000620916,;MATR3,missense_variant,p.Arg12Ser,ENST00000510056,;MATR3,missense_variant,p.Arg12Ser,ENST00000504045,;MATR3,missense_variant,p.Arg12Ser,ENST00000504023,;MATR3,missense_variant,p.Arg12Ser,ENST00000503340,;MATR3,missense_variant,p.Arg12Ser,ENST00000505016,;MATR3,missense_variant,p.Arg12Ser,ENST00000514694,;MATR3,missense_variant,p.Arg12Ser,ENST00000514488,;MATR3,missense_variant,p.Arg12Ser,ENST00000508689,;MATR3,intron_variant,,ENST00000502499,;MATR3,intron_variant,,ENST00000503811,NM_001194956.1;MATR3,intron_variant,,ENST00000504203,NM_001282278.1;MATR3,intron_variant,,ENST00000509644,;MATR3,intron_variant,,ENST00000506147,;MATR3,intron_variant,,ENST00000512107,;MATR3,intron_variant,,ENST00000512876,;MATR3,intron_variant,,ENST00000514528,;MATR3,intron_variant,,ENST00000511249,;MATR3,intron_variant,,ENST00000513678,;MATR3,intron_variant,,ENST00000504311,;MATR3,upstream_gene_variant,,ENST00000515833,;MATR3,downstream_gene_variant,,ENST00000511378,;MATR3,intron_variant,,ENST00000511978,;MATR3,intron_variant,,ENST00000509918,;MATR3,missense_variant,p.Arg12Ser,ENST00000502394,;MATR3,intron_variant,,ENST00000504643,;MATR3,intron_variant,,ENST00000513121,;MATR3,intron_variant,,ENST00000507860,;MATR3,upstream_gene_variant,,ENST00000505625,;MATR3,upstream_gene_variant,,ENST00000514402,;	T	ENST00000618441	Transcript	missense_variant	492/5282	36/2544	12/847	R/S	agG/agT		1		1	MATR3	EntrezGene	HGNC:6912	protein_coding	YES	CCDS4210.1	ENSP00000482895			UPI0000000DEE	NM_001194955.1	deleterious_low_confidence(0)		2/15		hmmpanther:PTHR15592																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	51	139307451	139307451	G	T	1	0	0	0	0	1	0	0	0	9263	1223	43	2		2	MATR3	5	139307451	Missense_Mutation	SNP	G	C3N-00549_TP	2	139307451	42230808	127	16317	353	2									
PCDHGA4	0	.	GRCh38	chr5	141355987	141355987	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaggcactcggctactcAccgtaaaagccactgatcca	11	8	8	14	2	1	1	1	1	0	0	3	1	2	1	3	2	2	4	3	2	4	3	rs775400390		C3N-00549_TP	C3N-00549_NB	A	A																c.880A>T	p.Thr294Ser	p.T294S	ENST00000571252	1/4	146	53	93	178	178	0	strelka-varscan	PCDHGA4,missense_variant,p.Thr294Ser,ENST00000571252,NM_018917.3;PCDHGA4,missense_variant,p.Thr294Ser,ENST00000612927,NM_032053.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB2,upstream_gene_variant,,ENST00000522605,NM_018923.2;PCDHGB1,downstream_gene_variant,,ENST00000611598,NM_032095.1;PCDHGB2,upstream_gene_variant,,ENST00000622527,NM_032096.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000571252	Transcript	missense_variant	963/4778	880/2889	294/962	T/S	Acc/Tcc	rs775400390	1		1	PCDHGA4	HGNC	HGNC:8702	protein_coding	YES	CCDS58979.2	ENSP00000458570		A0A087WT05	UPI0003583741	NM_018917.3	tolerated_low_confidence(0.12)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF94,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	141355987	141355987	A	T	1	0	0	0	0	1	0	0	0	11643	159	6	4		4	PCDHGA4	5	141355987	Missense_Mutation	SNP	A	C3N-00549_TP	2048536	141355987	40182272	128	16318											
DPYSL3	0	.	GRCh38	chr5	147418591	147418591	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccattggcttcaatggTcttcactcctccaggaacaa	9	12	6	14	0	3	0	2	0	1	0	6	1	6	1	3	3	1	1	3	3	3	4	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.511A>G	p.Thr171Ala	p.T171A	ENST00000343218	3/14	115	17	98	139	139	0	strelka-varscan	DPYSL3,missense_variant,p.Thr171Ala,ENST00000343218,NM_001197294.1;DPYSL3,missense_variant,p.Thr57Ala,ENST00000398514,NM_001387.2;DPYSL3,missense_variant,p.Thr57Ala,ENST00000512722,;DPYSL3,non_coding_transcript_exon_variant,,ENST00000519672,;DPYSL3,intron_variant,,ENST00000507309,;	C	ENST00000343218	Transcript	missense_variant	709/5476	511/2055	171/684	T/A	Acc/Gcc		1		-1	DPYSL3	HGNC	HGNC:3015	protein_coding	YES	CCDS56387.1	ENSP00000343690	Q14195	A0A140VK07	UPI000020CF0E	NM_001197294.1	deleterious(0.03)		3/14		Gene3D:2.30.40.10,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF57,Superfamily_domains:SSF51338,TIGRFAM_domain:TIGR02033																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	51	147418591	147418591	T	C	1	0	0	0	0	1	0	0	0	4563	1667	58	5		5	DPYSL3	5	147418591	Missense_Mutation	SNP	T	C3N-00549_TP	6062604	147418591	34119668	129	16319											
HAVCR1	0	.	GRCh38	chr5	157055200	157055200	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatatcaaagaaaaacttaCgtggcacaatctccaatgat	19	9	5	8	1	2	2	1	1	1	1	3	2	2	2	1	1	2	1	1	1	8	2	rs760073263		C3N-00549_TP	C3N-00549_NB	C	C																c.379+1G>T		p.X127_splice	ENST00000625904		34	6	28	29	29	0	strelka-varscan	HAVCR1,splice_donor_variant,,ENST00000339252,NM_001099414.1,NM_012206.2;HAVCR1,splice_donor_variant,,ENST00000625904,;HAVCR1,splice_donor_variant,,ENST00000522693,NM_001308156.1;HAVCR1,splice_donor_variant,,ENST00000523175,NM_001173393.1;HAVCR1,splice_donor_variant,,ENST00000518745,;	A	ENST00000625904	Transcript	splice_donor_variant	-/1807	379/1206	127/401			rs760073263	1		-1	HAVCR1	HGNC	HGNC:17866	protein_coding	YES	CCDS78076.1	ENSP00000487363		E9PFX0	UPI000020C020					2/6																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	51	157055200	157055200	C	A	1	0	0	0	0	0	0	1	0	6859	550	19	1		1	HAVCR1	5	157055200	Splice_Site	SNP	C	C3N-00549_TP	9636609	157055200	24483059	130	16320											
DUSP22	0	.	GRCh38	chr6	348127	348127	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggggtctccaggagcgtGacactggtgatcgcatacat	8	8	14	11	3	1	2	0	2	1	0	3	3	1	3	2	4	2	1	2	4	1	1	rs756999142		C3N-00549_TP	C3N-00549_NB	G	G																c.288G>T	p.=	p.V96V	ENST00000419235	6/7	264	208	56	242	242	0	strelka-varscan-mutect	DUSP22,synonymous_variant,p.=,ENST00000419235,NM_001286555.1;DUSP22,synonymous_variant,p.=,ENST00000344450,NM_020185.4;DUSP22,synonymous_variant,p.=,ENST00000603296,;DUSP22,5_prime_UTR_variant,,ENST00000604971,;DUSP22,5_prime_UTR_variant,,ENST00000605035,;DUSP22,5_prime_UTR_variant,,ENST00000605315,;DUSP22,5_prime_UTR_variant,,ENST00000603453,;DUSP22,5_prime_UTR_variant,,ENST00000605863,;DUSP22,5_prime_UTR_variant,,ENST00000603881,;DUSP22,non_coding_transcript_exon_variant,,ENST00000605391,;DUSP22,non_coding_transcript_exon_variant,,ENST00000604914,;DUSP22,non_coding_transcript_exon_variant,,ENST00000604988,;DUSP22,non_coding_transcript_exon_variant,,ENST00000603005,;DUSP22,downstream_gene_variant,,ENST00000603290,;DUSP22,3_prime_UTR_variant,,ENST00000603795,;DUSP22,3_prime_UTR_variant,,ENST00000603726,;	T	ENST00000419235	Transcript	synonymous_variant	366/3098	288/618	96/205	V	gtG/gtT	rs756999142	1		1	DUSP22	HGNC	HGNC:16077	protein_coding	YES	CCDS69035.1	ENSP00000397459	Q9NRW4		UPI000020E3B7	NM_001286555.1			6/7		Gene3D:3.90.190.10,Pfam_domain:PF00782,PROSITE_profiles:PS50054,PROSITE_profiles:PS50056,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF29,SMART_domains:SM00195,Superfamily_domains:SSF52799																	LOW	1	SNV	2			1										PASS		rs756999142	.												T	2	4	51	348127	348127	G	T	1	0	0	0	0	0	0	0	1	4643	1277	45	2		2	DUSP22	6	348127	Silent	SNP	G	C3N-00549_TP		348127	170457852	131	16321											
MYLK4	0	.	GRCh38	chr6	2679300	2679300	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatataggcgatgaccccCacactccacatgtcagtggg	11	7	10	13	1	1	1	1	1	0	0	2	2	2	1	3	2	1	1	3	2	2	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.867G>T	p.=	p.V289V	ENST00000274643	9/13	222	120	102	269	269	0	strelka-varscan-mutect	MYLK4,synonymous_variant,p.=,ENST00000274643,NM_001012418.3;	A	ENST00000274643	Transcript	synonymous_variant	1210/5806	867/1167	289/388	V	gtG/gtT		1		-1	MYLK4	HGNC	HGNC:27972	protein_coding	YES	CCDS34330.1	ENSP00000274643	Q86YV6		UPI00000498AE	NM_001012418.3			9/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF119,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	51	2679300	2679300	C	A	1	0	0	0	0	0	0	0	1	10059	581	21	2		2	MYLK4	6	2679300	Silent	SNP	C	C3N-00549_TP	2331173	2679300	168126679	132	16322											
NRN1	0	.	GRCh38	chr6	5999028	5999028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagagacaccaggagcaccGggaacgccgggagcagggac	13	0	17	11	3	0	2	0	0	0	2	0	7	0	6	3	4	3	2	3	4	1	0	rs768743224		C3N-00549_TP	C3N-00549_NB	G	G																c.455C>T	p.Pro152Leu	p.P152L	ENST00000622188	4/4	258	142	116	192	192	0	strelka-varscan-mutect	NRN1,missense_variant,p.Pro152Leu,ENST00000622188,NM_001278711.1;NRN1,missense_variant,p.Pro126Leu,ENST00000244766,NM_016588.2;NRN1,missense_variant,p.Pro126Leu,ENST00000616243,NM_001278710.1;NRN1,non_coding_transcript_exon_variant,,ENST00000495850,;	A	ENST00000622188	Transcript	missense_variant	769/1795	455/507	152/168	P/L	cCg/cTg	rs768743224	1		-1	NRN1	HGNC	HGNC:17972	protein_coding	YES	CCDS75393.1	ENSP00000480483		A0A087WWT2	UPI000020E485	NM_001278711.1	tolerated(0.25)		4/4		hmmpanther:PTHR15902,hmmpanther:PTHR15902:SF1																	MODERATE	1	SNV	2			1										PASS		rs768743224	.												A	3	1	51	5999028	5999028	G	A	1	0	0	0	0	1	0	0	0	10716	1116	39	1		1	NRN1	6	5999028	Missense_Mutation	SNP	G	C3N-00549_TP	3319728	5999028	164806951	133	16323											
F13A1	0	.	GRCh38	chr6	6174842	6174842	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtacatcagggcagtttcTagggccaatctctcttcttc	7	13	8	13	1	5	0	1	0	4	0	7	0	5	0	2	2	1	3	2	2	3	5	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.1485A>T	p.=	p.L495L	ENST00000264870	12/15	375	212	163	287	287	0	strelka-varscan-mutect	F13A1,synonymous_variant,p.=,ENST00000264870,NM_000129.3;	A	ENST00000264870	Transcript	synonymous_variant	1751/3999	1485/2199	495/732	L	ctA/ctT		1		-1	F13A1	HGNC	HGNC:3531	protein_coding	YES	CCDS4496.1	ENSP00000264870	P00488		UPI000013D585	NM_000129.3			12/15		Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF42,Superfamily_domains:SSF54001																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	51	6174842	6174842	T	A	1	0	0	0	0	0	0	0	1	5208	1509	53	4		4	F13A1	6	6174842	Silent	SNP	T	C3N-00549_TP	175814	6174842	164631137	134	16324											
TFAP2A	0	.	GRCh38	chr6	10402593	10402593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctcttaaagatcttcctCcatttttagacttcgccctg	7	18	4	12	1	2	2	0	0	2	2	6	2	4	2	3	0	0	0	3	0	3	7	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.782G>T	p.Gly261Val	p.G261V	ENST00000482890	6/8	361	213	148	339	339	0	strelka-varscan-mutect	TFAP2A,missense_variant,p.Gly263Val,ENST00000379613,;TFAP2A,missense_variant,p.Gly255Val,ENST00000379608,NM_001032280.2;TFAP2A,missense_variant,p.Gly261Val,ENST00000482890,NM_003220.2;TFAP2A,missense_variant,p.Gly257Val,ENST00000319516,NM_001042425.1;TFAP2A,missense_variant,p.Gly261Val,ENST00000466073,;TFAP2A,missense_variant,p.Gly166Val,ENST00000475264,;TFAP2A,missense_variant,p.Gly36Val,ENST00000461628,;TFAP2A,missense_variant,p.Gly118Val,ENST00000498450,;TFAP2A,non_coding_transcript_exon_variant,,ENST00000497266,;TFAP2A,downstream_gene_variant,,ENST00000490875,;TFAP2A,downstream_gene_variant,,ENST00000473652,;TFAP2A,downstream_gene_variant,,ENST00000462727,;TFAP2A,3_prime_UTR_variant,,ENST00000489805,;TFAP2A,3_prime_UTR_variant,,ENST00000488193,;TFAP2A,non_coding_transcript_exon_variant,,ENST00000478375,;TFAP2A,downstream_gene_variant,,ENST00000474952,;	A	ENST00000482890	Transcript	missense_variant	1135/2071	782/1314	261/437	G/V	gGa/gTa		1		-1	TFAP2A	HGNC	HGNC:11742	protein_coding	YES	CCDS4510.1	ENSP00000418541	P05549		UPI0000125BC5	NM_003220.2	deleterious(0)		6/8		Pfam_domain:PF03299,Prints_domain:PR01748,hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF8																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	51	10402593	10402593	C	A	1	0	0	0	0	1	0	0	0	16220	855	30	2		2	TFAP2A	6	10402593	Missense_Mutation	SNP	C	C3N-00549_TP	4227751	10402593	160403386	135	16325											
RANBP9	0	.	GRCh38	chr6	13711099	13711099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcgttcagggccgagtccCcgtgagggaagggggccgcg	5	5	19	12	5	1	1	1	1	0	0	3	3	2	2	4	4	0	2	4	4	1	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.407G>T	p.Gly136Val	p.G136V	ENST00000011619	1/14	201	120	81	209	209	0	strelka-varscan-mutect	RANBP9,missense_variant,p.Gly136Val,ENST00000011619,NM_005493.2;	A	ENST00000011619	Transcript	missense_variant	466/3113	407/2190	136/729	G/V	gGg/gTg		1		-1	RANBP9	HGNC	HGNC:13727	protein_coding	YES	CCDS4529.1	ENSP00000011619	Q96S59	A0A024QZW3	UPI000006ED83	NM_005493.2	tolerated_low_confidence(0.19)		1/14		hmmpanther:PTHR12864:SF18,hmmpanther:PTHR12864																	MODERATE	1	SNV	1			1										PASS		rs1484400119	.												A	3	1	51	13711099	13711099	C	A	1	0	0	0	0	1	0	0	0	13191	623	22	2		2	RANBP9	6	13711099	Missense_Mutation	SNP	C	C3N-00549_TP	3308506	13711099	157094880	136	16326											
CD83	0	.	GRCh38	chr6	14118034	14118034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccgccccctgggatcCgcaggttccctacacggtct	5	8	10	18	3	1	0	0	0	1	0	3	1	3	1	5	3	2	3	5	3	1	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.122C>T	p.Pro41Leu	p.P41L	ENST00000379153	2/5	171	110	61	197	197	0	strelka-varscan-mutect	CD83,missense_variant,p.Pro41Leu,ENST00000379153,NM_004233.3,NM_001040280.1;CD83,5_prime_UTR_variant,,ENST00000612003,NM_001251901.1;	T	ENST00000379153	Transcript	missense_variant	293/2471	122/618	41/205	P/L	cCg/cTg		1		1	CD83	HGNC	HGNC:1703	protein_coding	YES	CCDS4532.1	ENSP00000368450	Q01151		UPI000004C561	NM_004233.3,NM_001040280.1	tolerated(0.05)		2/5		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR15193,hmmpanther:PTHR15193:SF1,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	14118034	14118034	C	T	1	0	0	0	0	1	0	0	0	2745	652	23	1		1	CD83	6	14118034	Missense_Mutation	SNP	C	C3N-00549_TP	406935	14118034	156687945	137	16327											
ATXN1	0	.	GRCh38	chr6	16327702	16327702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgctgctgctgctgctgCtgctgctgctgctgctgctg	1	14	14	12	0	0	1	0	1	0	0	0	1	0	1	0	0	12	12	0	0	0	0	rs199744696		C3N-00549_TP	C3N-00549_NB	C	C																c.609G>T	p.Gln203His	p.Q203H	ENST00000244769	8/9	396	270	126	402	402	0	strelka-varscan-mutect	ATXN1,missense_variant,p.Gln203His,ENST00000244769,NM_000332.3;ATXN1,missense_variant,p.Gln203His,ENST00000436367,NM_001128164.1;	A	ENST00000244769	Transcript	missense_variant	1546/10602	609/2448	203/815	Q/H	caG/caT	rs199744696,COSM222477	1		-1	ATXN1	HGNC	HGNC:10548	protein_coding	YES	CCDS34342.1	ENSP00000244769	P54253		UPI000013CB8B	NM_000332.3	tolerated_low_confidence(0.15)		8/9		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs199744696	.												A	3	1	51	16327702	16327702	C	A	1	0	0	0	0	1	0	0	0	1362	796	28	2		2	ATXN1	6	16327702	Missense_Mutation	SNP	C	C3N-00549_TP	2209668	16327702	154478277	138	16328											
KIF13A	0	.	GRCh38	chr6	17781204	17781204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtgctttatgatgggCaggtagaaaaactggctgcc	10	11	12	8	0	1	2	1	1	0	1	1	2	1	2	1	3	3	4	1	3	4	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.3642G>A	p.=	p.L1214L	ENST00000259711	30/39	160	103	57	177	177	0	strelka-varscan-mutect	KIF13A,synonymous_variant,p.=,ENST00000378814,NM_001105568.2;KIF13A,synonymous_variant,p.=,ENST00000259711,NM_022113.5;KIF13A,synonymous_variant,p.=,ENST00000378826,NM_001105566.2;KIF13A,synonymous_variant,p.=,ENST00000378843,NM_001105567.2;KIF13A,synonymous_variant,p.=,ENST00000636847,;KIF13A,synonymous_variant,p.=,ENST00000358380,;KIF13A,synonymous_variant,p.=,ENST00000502297,;KIF13A,synonymous_variant,p.=,ENST00000506044,;KIF13A,downstream_gene_variant,,ENST00000514714,;	T	ENST00000259711	Transcript	synonymous_variant	3748/5941	3642/5418	1214/1805	L	ctG/ctA		1		-1	KIF13A	HGNC	HGNC:14566	protein_coding	YES	CCDS47381.1	ENSP00000259711	Q9H1H9		UPI0000E20DA3	NM_022113.5			30/39		Pfam_domain:PF12473																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	51	17781204	17781204	C	T	1	0	0	0	0	0	0	0	1	8138	697	25	3		3	KIF13A	6	17781204	Silent	SNP	C	C3N-00549_TP	1453502	17781204	153024775	139	16329											
HIST1H2BL	0	.	GRCh38	chr6	27807609	27807609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccccggaagcagcaggcGcacggcggtctggatctccc	6	5	13	17	4	2	0	0	0	2	0	4	2	3	2	3	5	2	3	3	5	1	0	rs779644008		C3N-00549_TP	C3N-00549_NB	G	G																c.298C>A	p.Arg100Ser	p.R100S	ENST00000377401	1/1	345	213	132	273	273	0	strelka-varscan-mutect	HIST1H2BL,missense_variant,p.Arg100Ser,ENST00000377401,NM_003519.3;HIST1H3H,upstream_gene_variant,,ENST00000369163,NM_003536.2;HIST1H2AI,upstream_gene_variant,,ENST00000358739,NM_003509.2;HIST1H4PS1,downstream_gene_variant,,ENST00000406085,;	T	ENST00000377401	Transcript	missense_variant	323/488	298/381	100/126	R/S	Cgc/Agc	rs779644008,COSM1442755	1		-1	HIST1H2BL	HGNC	HGNC:4748	protein_coding	YES	CCDS4625.1	ENSP00000366618	Q99880		UPI0000001BD6	NM_003519.3	deleterious_low_confidence(0.04)		1/1		hmmpanther:PTHR23428,PROSITE_patterns:PS00357,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621											0,1						MODERATE	1	SNV			0,1	1										PASS		rs779644008	.												T	3	4	51	27807609	27807609	G	T	1	0	0	0	0	1	0	0	0	7039	1087	38	1		1	HIST1H2BL	6	27807609	Missense_Mutation	SNP	G	C3N-00549_TP	10026405	27807609	142998370	140	16330											
ZBED9	0	.	GRCh38	chr6	28573319	28573319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttctttgctgcagattcaCccaacatttccaagcaaact	11	12	4	14	0	2	1	1	0	1	1	3	1	3	1	3	0	5	3	3	0	3	4	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.2570G>T	p.Gly857Val	p.G857V	ENST00000452236	4/4	262	162	100	495	495	0	strelka-varscan-mutect	ZBED9,missense_variant,p.Gly857Val,ENST00000452236,NM_052923.1;ZBED9,downstream_gene_variant,,ENST00000530247,;	A	ENST00000452236	Transcript	missense_variant	3188/4877	2570/3978	857/1325	G/V	gGt/gTt		1		-1	ZBED9	HGNC	HGNC:13851	protein_coding	YES	CCDS34355.1	ENSP00000395259	Q6R2W3		UPI00001618B7	NM_052923.1	deleterious(0.01)		4/4		hmmpanther:PTHR11697:SF108,hmmpanther:PTHR11697																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	28573319	28573319	C	A	1	0	0	0	0	1	0	0	0	18086	507	18	2		2	ZBED9	6	28573319	Missense_Mutation	SNP	C	C3N-00549_TP	765710	28573319	142232660	141	16331											
OR2H1	0	.	GRCh38	chr6	29462668	29462668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagataaagcgagcactcaGgaggttactagggaaggaaa	16	5	15	5	1	1	1	1	0	0	1	1	6	1	4	0	5	3	2	0	5	6	3	rs530184651		C3N-00549_TP	C3N-00549_NB	G	G																c.899G>T	p.Arg300Met	p.R300M	ENST00000377136	4/4	231	153	78	205	204	1	strelka-varscan-mutect	OR2H1,missense_variant,p.Arg300Met,ENST00000377136,;OR2H1,missense_variant,p.Arg300Met,ENST00000377133,NM_001318022.1,NM_030883.3;OR2H1,missense_variant,p.Arg300Met,ENST00000377132,;OR2H1,missense_variant,p.Arg300Met,ENST00000396792,;OR2H1,non_coding_transcript_exon_variant,,ENST00000473369,;OR2H1,non_coding_transcript_exon_variant,,ENST00000484554,;OR2H1,downstream_gene_variant,,ENST00000484371,;UBDP1,downstream_gene_variant,,ENST00000457888,;	T	ENST00000377136	Transcript	missense_variant	1364/3024	899/951	300/316	R/M	aGg/aTg	rs530184651	1		1	OR2H1	HGNC	HGNC:8252	protein_coding	YES	CCDS4660.1	ENSP00000366340	Q9GZK4	A0A024RCM6	UPI000000DCA7		tolerated(0.08)		4/4		hmmpanther:PTHR26453:SF190,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs530184651	.												T	3	4	51	29462668	29462668	G	T	1	0	0	0	0	1	0	0	0	11079	1000	35	2		2	OR2H1	6	29462668	Missense_Mutation	SNP	G	C3N-00549_TP	889349	29462668	141343311	142	16332											
DDX39B	0	.	GRCh38	chr6	31540460	31540460	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaggggcctcagccccatCtcccccagctgctgtctcca	5	7	10	19	0	3	0	1	0	2	0	5	0	3	0	6	3	3	3	6	3	0	0	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.73G>C	p.Asp25His	p.D25H	ENST00000396172	2/11	350	234	116	289	289	0	strelka-varscan-mutect	DDX39B,missense_variant,p.Asp25His,ENST00000396172,NM_004640.6;DDX39B,missense_variant,p.Asp25His,ENST00000458640,NM_080598.5;DDX39B,missense_variant,p.Asp25His,ENST00000376177,;DDX39B,missense_variant,p.Asp25His,ENST00000427214,;DDX39B,missense_variant,p.Asp25His,ENST00000456662,;DDX39B,missense_variant,p.Asp25His,ENST00000419338,;DDX39B,missense_variant,p.Glu20Asp,ENST00000431908,;DDX39B,missense_variant,p.Asp25His,ENST00000428098,;DDX39B,missense_variant,p.Asp25His,ENST00000456976,;DDX39B,missense_variant,p.Asp25His,ENST00000428450,;DDX39B,missense_variant,p.Asp48His,ENST00000449757,;DDX39B,missense_variant,p.Asp40His,ENST00000418897,;DDX39B,missense_variant,p.Asp25His,ENST00000419020,;ATP6V1G2,downstream_gene_variant,,ENST00000303892,NM_130463.3;ATP6V1G2,downstream_gene_variant,,ENST00000376151,NM_001204078.1;ATP6V1G2,downstream_gene_variant,,ENST00000483251,NM_138282.2;ATP6V1G2,downstream_gene_variant,,ENST00000415099,;SNORD84,downstream_gene_variant,,ENST00000584275,;SNORD117,upstream_gene_variant,,ENST00000364915,;DDX39B-AS1,upstream_gene_variant,,ENST00000420520,;DDX39B-AS1,upstream_gene_variant,,ENST00000416684,;ATP6V1G2,downstream_gene_variant,,ENST00000483170,;ATP6V1G2-DDX39B,downstream_gene_variant,,ENST00000475917,;ATP6V1G2-DDX39B,3_prime_UTR_variant,,ENST00000376185,;ATP6V1G2-DDX39B,3_prime_UTR_variant,,ENST00000480131,;DDX39B,non_coding_transcript_exon_variant,,ENST00000481456,;DDX39B,non_coding_transcript_exon_variant,,ENST00000462256,;DDX39B,non_coding_transcript_exon_variant,,ENST00000482195,;DDX39B,upstream_gene_variant,,ENST00000484566,;	G	ENST00000396172	Transcript	missense_variant	704/2133	73/1287	25/428	D/H	Gat/Cat		1		-1	DDX39B	HGNC	HGNC:13917	protein_coding	YES	CCDS4697.1	ENSP00000379475	Q13838	A0A024RCM3	UPI0000001D0B	NM_004640.6	deleterious(0.03)		2/11		hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF204																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	51	31540460	31540460	C	G	1	0	0	0	0	1	0	0	0	4160	913	32	4		4	DDX39B	6	31540460	Missense_Mutation	SNP	C	C3N-00549_TP	2077792	31540460	139265519	143	16333											
BRD2	0	.	GRCh38	chr6	32976648	32976649	+	In_Frame_Ins	INS	-	-	AGTCTT																															ctccagctagccctcctgggINSagtcttgagcctaaggcagc																								novel		C3N-00549_TP	C3N-00549_NB	-	-																c.913_918dupAGTCTT	p.Ser305_Leu306dup	p.S305_L306dup	ENST00000395287	6/13	190	115	75	129	129	0	sindel-varindel-pindel	BRD2,inframe_insertion,p.Ser305_Leu306dup,ENST00000374825,NM_005104.3;BRD2,inframe_insertion,p.Ser305_Leu306dup,ENST00000374831,NM_001113182.2;BRD2,inframe_insertion,p.Ser305_Leu306dup,ENST00000395287,NM_001199455.1;BRD2,inframe_insertion,p.Ser311_Leu312dup,ENST00000449025,;BRD2,inframe_insertion,p.Ser258_Leu259dup,ENST00000449085,NM_001291986.1,NM_001199456.1;BRD2,inframe_insertion,p.Ser305_Leu306dup,ENST00000607833,;BRD2,inframe_insertion,p.Ser48_Leu49dup,ENST00000606059,;BRD2,downstream_gene_variant,,ENST00000456339,;BRD2,downstream_gene_variant,,ENST00000496118,;XXbac-BPG181M17.6,upstream_gene_variant,,ENST00000580587,;BRD2,downstream_gene_variant,,ENST00000580234,;BRD2,downstream_gene_variant,,ENST00000581002,;BRD2,downstream_gene_variant,,ENST00000584808,;BRD2,inframe_insertion,p.Ser305_Leu306dup,ENST00000495733,;BRD2,inframe_insertion,p.Ser28_Leu29dup,ENST00000481259,;BRD2,3_prime_UTR_variant,,ENST00000482914,;BRD2,non_coding_transcript_exon_variant,,ENST00000464592,;BRD2,upstream_gene_variant,,ENST00000469132,;BRD2,upstream_gene_variant,,ENST00000463639,;BRD2,upstream_gene_variant,,ENST00000482838,;	AGTCTT	ENST00000395287	Transcript	inframe_insertion	1081-1082/3467	912-913/2511	304-305/836	-/SL	-/AGTCTT		1		1	BRD2	HGNC	HGNC:1103	protein_coding	YES	CCDS56420.1	ENSP00000378702	P25440		UPI0000227E6A	NM_001199455.1			6/13		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF126,Low_complexity_(Seg):seg																	MODERATE	1	insertion	1	6		1										PASS		.	.												AGTCTT	7	5	51	32976648	32976648	-	AGTCTT	1	0	1	1	0	0	0	0	0	1672	1161	41	0		0	BRD2	6	32976648	In_Frame_Ins	INS	-	C3N-00549_TP	1436188	32976648	137829331	144	16334											
BRPF3	0	.	GRCh38	chr6	36201327	36201327	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagaaagggctaggtgcAgccatccagtgccataaggt	13	6	13	9	0	0	1	0	0	0	1	1	1	1	1	3	3	4	3	3	3	4	2	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.1005A>T	p.=	p.A335A	ENST00000357641	2/13	326	202	124	266	266	0	strelka-varscan-mutect	BRPF3,synonymous_variant,p.=,ENST00000357641,NM_015695.2;BRPF3,synonymous_variant,p.=,ENST00000339717,;BRPF3,synonymous_variant,p.=,ENST00000534694,;BRPF3,synonymous_variant,p.=,ENST00000534400,;BRPF3,downstream_gene_variant,,ENST00000454960,;BRPF3,upstream_gene_variant,,ENST00000527657,;BRPF3,downstream_gene_variant,,ENST00000446974,;RP1-179N16.6,upstream_gene_variant,,ENST00000499560,;RP1-179N16.6,upstream_gene_variant,,ENST00000526611,;BRPF3,synonymous_variant,p.=,ENST00000441123,;BRPF3,synonymous_variant,p.=,ENST00000449261,;BRPF3,synonymous_variant,p.=,ENST00000532330,;	T	ENST00000357641	Transcript	synonymous_variant	1258/6052	1005/3618	335/1205	A	gcA/gcT		1		1	BRPF3	HGNC	HGNC:14256	protein_coding	YES	CCDS34437.1	ENSP00000350267	Q9ULD4		UPI00001C1E4C	NM_015695.2			2/13		hmmpanther:PTHR13793:SF19,hmmpanther:PTHR13793,Pfam_domain:PF13832,SMART_domains:SM00249																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	51	36201327	36201327	A	T	1	0	0	0	0	0	0	0	1	1695	175	7	4		4	BRPF3	6	36201327	Silent	SNP	A	C3N-00549_TP	3224679	36201327	134604652	145	16335											
FGD2	0	.	GRCh38	chr6	37028114	37028114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggccatggagcgggcggCcagtggctggagccccagct	7	4	18	12	2	0	0	0	0	0	0	0	3	0	2	4	6	3	2	4	6	1	0	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1919C>A	p.Ala640Asp	p.A640D	ENST00000274963	16/16	100	45	55	72	72	0	strelka-varscan-mutect	FGD2,missense_variant,p.Ala640Asp,ENST00000274963,NM_173558.3;FGD2,3_prime_UTR_variant,,ENST00000373535,;FGD2,non_coding_transcript_exon_variant,,ENST00000493635,;FGD2,non_coding_transcript_exon_variant,,ENST00000494343,;FGD2,non_coding_transcript_exon_variant,,ENST00000464083,;FGD2,non_coding_transcript_exon_variant,,ENST00000487920,;	A	ENST00000274963	Transcript	missense_variant	2090/3046	1919/1968	640/655	A/D	gCc/gAc		1		1	FGD2	HGNC	HGNC:3664	protein_coding	YES	CCDS4829.1	ENSP00000274963	Q7Z6J4		UPI00001A9477	NM_173558.3	deleterious(0)		16/16		PROSITE_profiles:PS50003,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF82,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	37028114	37028114	C	A	1	0	0	0	0	1	0	0	0	5697	739	26	2		2	FGD2	6	37028114	Missense_Mutation	SNP	C	C3N-00549_TP	826787	37028114	133777865	146	16336											
HMGCLL1	0	.	GRCh38	chr6	55514130	55514130	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttcaatggaacagttaaTattcttcttgctaaaggatt	12	17	6	6	0	4	0	1	0	3	0	4	2	4	2	0	2	2	2	0	2	6	9	rs773175695		C3N-00549_TP	C3N-00549_NB	T	T																c.550A>T	p.Ile184Phe	p.I184F	ENST00000398661	6/10	189	117	72	188	188	0	strelka-varscan-mutect	HMGCLL1,missense_variant,p.Ile184Phe,ENST00000398661,NM_019036.2;HMGCLL1,missense_variant,p.Ile154Phe,ENST00000274901,NM_001287746.1,NM_001042406.1;HMGCLL1,missense_variant,p.Ile122Phe,ENST00000428842,;HMGCLL1,missense_variant,p.Ile122Phe,ENST00000308161,NM_001287741.1;HMGCLL1,intron_variant,,ENST00000370850,NM_001287753.1;HMGCLL1,intron_variant,,ENST00000508459,;HMGCLL1,3_prime_UTR_variant,,ENST00000370852,;HMGCLL1,downstream_gene_variant,,ENST00000515546,;	A	ENST00000398661	Transcript	missense_variant	682/2532	550/1113	184/370	I/F	Att/Ttt	rs773175695	1		-1	HMGCLL1	HGNC	HGNC:21359	protein_coding	YES	CCDS43475.1	ENSP00000381654	Q8TB92		UPI000023780E	NM_019036.2	deleterious(0)		6/10		Gene3D:3.20.20.70,Pfam_domain:PF00682,PROSITE_profiles:PS50991,hmmpanther:PTHR10277,hmmpanther:PTHR10277:SF33,Superfamily_domains:SSF51569																	MODERATE	1	SNV	2			1										PASS		rs773175695	.												A	3	1	51	55514130	55514130	T	A	1	0	0	0	0	1	0	0	0	7122	1406	49	4		4	HMGCLL1	6	55514130	Missense_Mutation	SNP	T	C3N-00549_TP	18486016	55514130	115291849	147	16337											
KCNQ5	0	.	GRCh38	chr6	73194937	73194937	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctaaccctgcaggcttacaGgaaagcatttctgacgtcac	11	9	8	13	1	2	1	1	1	1	0	2	2	2	2	2	2	4	3	2	2	3	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.2379G>A	p.=	p.Q793Q	ENST00000342056	15/15	248	89	159	272	272	0	strelka-varscan-mutect	KCNQ5,synonymous_variant,p.=,ENST00000342056,NM_001160132.1,NM_001160133.1;KCNQ5,synonymous_variant,p.=,ENST00000355635,;KCNQ5,synonymous_variant,p.=,ENST00000402622,;KCNQ5,synonymous_variant,p.=,ENST00000355194,;KCNQ5,synonymous_variant,p.=,ENST00000403813,;KCNQ5,synonymous_variant,p.=,ENST00000370398,NM_019842.3;KCNQ5,synonymous_variant,p.=,ENST00000414165,;KCNQ5,synonymous_variant,p.=,ENST00000628967,NM_001160134.1;KCNQ5,synonymous_variant,p.=,ENST00000629977,NM_001160130.1;	A	ENST00000342056	Transcript	synonymous_variant	2777/6688	2379/2856	793/951	Q	caG/caA		1		1	KCNQ5	HGNC	HGNC:6299	protein_coding	YES	CCDS55034.1	ENSP00000345055	Q9NR82		UPI000155D644	NM_001160132.1,NM_001160133.1			15/15		hmmpanther:PTHR11537:SF128,hmmpanther:PTHR11537																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	51	73194937	73194937	G	A	1	0	0	0	0	0	0	0	1	8002	991	35	3		3	KCNQ5	6	73194937	Silent	SNP	G	C3N-00549_TP	17680807	73194937	97611042	148	16338											
SNAP91	0	.	GRCh38	chr6	83582277	83582277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgttgtcccaaaagctgcCtcaaaattgggctgtagcag	10	9	12	10	1	1	0	1	0	0	0	2	0	2	0	2	2	3	5	2	2	5	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.2094G>T	p.Glu698Asp	p.E698D	ENST00000439399	23/30	167	62	105	243	243	0	strelka-varscan-mutect	SNAP91,missense_variant,p.Glu698Asp,ENST00000521485,;SNAP91,missense_variant,p.Glu698Asp,ENST00000439399,NM_014841.2;SNAP91,missense_variant,p.Glu698Asp,ENST00000369694,NM_001242792.1;SNAP91,missense_variant,p.Glu698Asp,ENST00000195649,NM_001256718.1;SNAP91,missense_variant,p.Glu698Asp,ENST00000521743,;SNAP91,missense_variant,p.Glu668Asp,ENST00000520302,NM_001256717.1,NM_001242793.1;SNAP91,missense_variant,p.Glu391Asp,ENST00000520213,NM_001242794.1;SNAP91,missense_variant,p.Glu511Asp,ENST00000521931,;SNAP91,missense_variant,p.Glu39Asp,ENST00000523448,;SNAP91,upstream_gene_variant,,ENST00000519133,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;	A	ENST00000439399	Transcript	missense_variant	2411/4452	2094/2724	698/907	E/D	gaG/gaT		1		-1	SNAP91	HGNC	HGNC:14986	protein_coding	YES	CCDS47455.1	ENSP00000400459	O60641		UPI0000124FB3	NM_014841.2	tolerated(1)		23/30		hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	51	83582277	83582277	C	A	1	0	0	0	0	1	0	0	0	15154	680	24	2		2	SNAP91	6	83582277	Missense_Mutation	SNP	C	C3N-00549_TP	10387340	83582277	87223702	149	16339											
GABRR2	0	.	GRCh38	chr6	89271705	89271705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccacctgtacgtccacgcCcaccgggatggcagggcctg	6	6	12	17	3	0	0	0	0	0	0	2	1	2	1	6	3	1	2	6	3	1	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.238G>T	p.Gly80Cys	p.G80C	ENST00000402938	3/9	173	71	102	197	197	0	strelka-varscan-mutect	GABRR2,missense_variant,p.Gly80Cys,ENST00000402938,NM_002043.3;GABRR2,non_coding_transcript_exon_variant,,ENST00000602808,;GABRR2,upstream_gene_variant,,ENST00000602432,;	A	ENST00000402938	Transcript	missense_variant	372/1682	238/1398	80/465	G/C	Ggc/Tgc		1		-1	GABRR2	HGNC	HGNC:4091	protein_coding	YES	CCDS5020.3	ENSP00000386029	P28476		UPI000012B0DB	NM_002043.3	deleterious(0)		3/9		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF197,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		rs1487812503	.												A	3	1	51	89271705	89271705	C	A	1	0	0	0	0	1	0	0	0	6048	623	22	2		2	GABRR2	6	89271705	Missense_Mutation	SNP	C	C3N-00549_TP	5689428	89271705	81534274	150	16340											
MARCKS	0	.	GRCh38	chr6	113860015	113860015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacggggccacgccctcGcccagcaacgagaccccgaa	10	1	13	17	5	0	1	0	0	0	1	1	5	0	2	5	3	2	1	5	3	2	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.435G>A	p.=	p.S145S	ENST00000612661	2/2	79	49	30	114	113	1	strelka-varscan-mutect	MARCKS,synonymous_variant,p.=,ENST00000612661,NM_002356.6;	A	ENST00000612661	Transcript	synonymous_variant	819/4275	435/999	145/332	S	tcG/tcA		1		1	MARCKS	HGNC	HGNC:6759	protein_coding	YES	CCDS5101.1	ENSP00000478061	P29966		UPI000013DDF0	NM_002356.6			2/2		hmmpanther:PTHR14353,hmmpanther:PTHR14353:SF9,Pfam_domain:PF02063																	LOW	1	SNV	1			1										PASS		rs1417954840	.												A	2	1	51	113860015	113860015	G	A	1	0	0	0	0	0	0	0	1	9234	1074	38	1		1	MARCKS	6	113860015	Silent	SNP	G	C3N-00549_TP	24588310	113860015	56945964	151	16341											
MARCKS	0	.	GRCh38	chr6	113860416	113860417	+	Frame_Shift_Del	DEL	GC	GC	-																															cggggccagcgccgccgcctGcgaggccccctccgccgccg																								novel		C3N-00549_TP	C3N-00549_NB	GC	GC																c.837_838delCG	p.Cys279Ter	p.C279*	ENST00000612661	2/2	42	25	17	79	78	1	sindel-varindel-pindel	MARCKS,frameshift_variant,p.Cys279Ter,ENST00000612661,NM_002356.6;	-	ENST00000612661	Transcript	frameshift_variant	1220-1221/4275	836-837/999	279/332	C/X	tGC/t		1		1	MARCKS	HGNC	HGNC:6759	protein_coding	YES	CCDS5101.1	ENSP00000478061	P29966		UPI000013DDF0	NM_002356.6			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR14353,hmmpanther:PTHR14353:SF9,Pfam_domain:PF02063																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	51	113860416	113860416	GC	-	1	0	1	0	1	0	0	0	0	9234	1319	46	0		0	MARCKS	6	113860416	Frame_Shift_Del	DEL	GC	C3N-00549_TP	401	113860416	56945563	152	16342											
SLC35F1	0	.	GRCh38	chr6	118267023	118267023	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttgtgatcccagtcgTgattttgctctcctggttct	3	19	9	10	1	2	2	0	2	2	0	5	2	3	2	2	1	1	3	2	1	0	5	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.506T>C	p.Val169Ala	p.V169A	ENST00000360388	4/8	188	104	84	139	138	1	strelka-varscan-mutect	SLC35F1,missense_variant,p.Val169Ala,ENST00000360388,NM_001029858.3;SLC35F1,missense_variant,p.Val110Ala,ENST00000621341,;	C	ENST00000360388	Transcript	missense_variant	707/4852	506/1227	169/408	V/A	gTg/gCg		1		1	SLC35F1	HGNC	HGNC:21483	protein_coding	YES	CCDS34524.1	ENSP00000353557	Q5T1Q4		UPI00001609C1	NM_001029858.3	deleterious(0)		4/8		Superfamily_domains:0043518,Pfam_domain:PF06027,hmmpanther:PTHR14233,hmmpanther:PTHR14233:SF10,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	51	118267023	118267023	T	C	1	0	0	0	0	1	0	0	0	14859	1696	59	5		5	SLC35F1	6	118267023	Missense_Mutation	SNP	T	C3N-00549_TP	4406607	118267023	52538956	153	16343											
SAMD3	0	.	GRCh38	chr6	130144641	130144641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtttgggacagtcttcttGgacactcaatcctaaataca	13	12	7	9	0	3	0	1	0	2	0	4	2	4	2	1	2	1	1	1	2	5	5	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1514C>T	p.Pro505Leu	p.P505L	ENST00000457563	11/11	426	268	158	441	440	1	strelka-varscan-mutect	SAMD3,missense_variant,p.Pro481Leu,ENST00000368134,NM_001258275.2;SAMD3,missense_variant,p.Pro481Leu,ENST00000439090,NM_001017373.3;SAMD3,missense_variant,p.Pro481Leu,ENST00000437477,;SAMD3,missense_variant,p.Pro505Leu,ENST00000457563,NM_001277185.1;L3MBTL3,downstream_gene_variant,,ENST00000529410,;L3MBTL3,downstream_gene_variant,,ENST00000368136,;L3MBTL3,downstream_gene_variant,,ENST00000361794,NM_032438.2;L3MBTL3,downstream_gene_variant,,ENST00000368139,;L3MBTL3,downstream_gene_variant,,ENST00000526019,;L3MBTL3,downstream_gene_variant,,ENST00000533560,NM_001007102.2;SAMD3,downstream_gene_variant,,ENST00000463253,;RP11-73O6.3,non_coding_transcript_exon_variant,,ENST00000614735,;RP11-73O6.3,non_coding_transcript_exon_variant,,ENST00000622734,;RP11-73O6.3,upstream_gene_variant,,ENST00000609978,;RP11-73O6.3,upstream_gene_variant,,ENST00000415964,;	A	ENST00000457563	Transcript	missense_variant	1554/1877	1514/1635	505/544	P/L	cCa/cTa		1		-1	SAMD3	HGNC	HGNC:21574	protein_coding	YES	CCDS64525.1	ENSP00000402092	Q8N6K7		UPI0000E0A4FD	NM_001277185.1	deleterious(0)		11/11		hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF18																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	51	130144641	130144641	G	A	1	0	0	0	0	1	0	0	0	14080	1348	47	3		3	SAMD3	6	130144641	Missense_Mutation	SNP	G	C3N-00549_TP	11877618	130144641	40661338	154	16344											
TMEM200A	0	.	GRCh38	chr6	130441706	130441706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggatcggaacaacagcaaGggatatatgaaactagagaa	18	7	11	5	1	0	2	0	1	0	1	1	6	0	5	0	3	4	1	0	3	8	4	rs145230140		C3N-00549_TP	C3N-00549_NB	G	G																c.1284G>T	p.Lys428Asn	p.K428N	ENST00000392429	2/2	191	119	72	189	189	0	strelka-varscan-mutect	TMEM200A,missense_variant,p.Lys428Asn,ENST00000392429,NM_052913.2;TMEM200A,missense_variant,p.Lys428Asn,ENST00000296978,NM_001258277.1;TMEM200A,missense_variant,p.Lys428Asn,ENST00000545622,NM_001258278.1;TMEM200A,missense_variant,p.Lys428Asn,ENST00000617887,NM_001258276.1;	T	ENST00000392429	Transcript	missense_variant	3662/5017	1284/1476	428/491	K/N	aaG/aaT	rs145230140,COSM1440457,COSM1440458	1		1	TMEM200A	HGNC	HGNC:21075	protein_coding	YES	CCDS5140.1	ENSP00000376224	Q86VY9	A8K2A1	UPI000000DA85	NM_052913.2	deleterious(0.02)		2/2		hmmpanther:PTHR31815:SF0,hmmpanther:PTHR31815											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs145230140	.												T	3	4	51	130441706	130441706	G	T	1	0	0	0	0	1	0	0	0	16562	991	35	2		2	TMEM200A	6	130441706	Missense_Mutation	SNP	G	C3N-00549_TP	297065	130441706	40364273	155	16345											
IL20RA	0	.	GRCh38	chr6	137008713	137008713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggctccagccaggtgagcaCcagcgtgtggttggtcacac	7	7	14	13	2	1	1	1	1	0	0	2	1	2	1	3	4	3	3	3	4	0	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.610G>T	p.Val204Leu	p.V204L	ENST00000316649	5/7	97	56	41	54	54	0	strelka-varscan-mutect	IL20RA,missense_variant,p.Val93Leu,ENST00000367748,NM_001278724.1,NM_001278723.1;IL20RA,missense_variant,p.Val204Leu,ENST00000316649,NM_014432.3;IL20RA,missense_variant,p.Val155Leu,ENST00000541547,NM_001278722.1;IL20RA,missense_variant,p.Val93Leu,ENST00000468393,;IL20RA,missense_variant,p.Val71Leu,ENST00000635289,;IL20RA,downstream_gene_variant,,ENST00000367746,;	A	ENST00000316649	Transcript	missense_variant	846/3485	610/1662	204/553	V/L	Gtg/Ttg		1		-1	IL20RA	HGNC	HGNC:6003	protein_coding	YES	CCDS5181.1	ENSP00000314976	Q9UHF4		UPI000006FA41	NM_014432.3	tolerated(0.08)		5/7		PROSITE_profiles:PS50853,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF21,Gene3D:2.60.40.10,Pfam_domain:PF09294,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	137008713	137008713	C	A	1	0	0	0	0	1	0	0	0	7571	507	18	2		2	IL20RA	6	137008713	Missense_Mutation	SNP	C	C3N-00549_TP	6567007	137008713	33797266	156	16346											
UTRN	0	.	GRCh38	chr6	144482380	144482380	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcgaggaaagtgccacAcgctagaggtatgctattat	13	10	11	7	2	0	1	0	0	0	1	1	4	0	2	1	2	2	3	1	2	6	5	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.3679A>G	p.Thr1227Ala	p.T1227A	ENST00000367545	26/74	112	72	40	171	171	0	strelka-varscan-mutect	UTRN,missense_variant,p.Thr1227Ala,ENST00000367545,NM_007124.2;	G	ENST00000367545	Transcript	missense_variant	3679/12339	3679/10302	1227/3433	T/A	Acg/Gcg		1		1	UTRN	HGNC	HGNC:12635	protein_coding	YES	CCDS34547.1	ENSP00000356515	P46939		UPI00003673F1	NM_007124.2	deleterious(0)		26/74		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF225,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	51	144482380	144482380	A	G	1	0	0	0	0	1	0	0	0	17647	159	6	5		5	UTRN	6	144482380	Missense_Mutation	SNP	A	C3N-00549_TP	7473667	144482380	26323599	157	16347											
OPRM1	0	.	GRCh38	chr6	154039727	154039727	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacagcctgtgccctccGaccggcagtccctccatgat	8	7	10	16	2	0	2	0	1	0	1	3	4	3	2	6	1	2	1	6	1	0	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.462G>T	p.=	p.P154P	ENST00000434900	3/6	150	85	65	128	127	1	strelka-varscan-mutect	OPRM1,synonymous_variant,p.=,ENST00000414028,NM_001145284.3;OPRM1,synonymous_variant,p.=,ENST00000435918,NM_001145283.2;OPRM1,synonymous_variant,p.=,ENST00000330432,NM_000914.4;OPRM1,synonymous_variant,p.=,ENST00000434900,NM_001145279.3,NM_001285524.1;OPRM1,synonymous_variant,p.=,ENST00000360422,NM_001285523.1;OPRM1,synonymous_variant,p.=,ENST00000428397,NM_001008504.3;OPRM1,synonymous_variant,p.=,ENST00000229768,NM_001008505.2;OPRM1,synonymous_variant,p.=,ENST00000419506,NM_001145286.2;OPRM1,synonymous_variant,p.=,ENST00000337049,NM_001008503.2;OPRM1,synonymous_variant,p.=,ENST00000452687,NM_001145282.2;OPRM1,synonymous_variant,p.=,ENST00000524163,NM_001145285.2;OPRM1,synonymous_variant,p.=,ENST00000520282,;OPRM1,intron_variant,,ENST00000520708,NM_001145280.3;OPRM1,intron_variant,,ENST00000518759,NM_001145281.2;OPRM1,non_coding_transcript_exon_variant,,ENST00000523520,;OPRM1,synonymous_variant,p.=,ENST00000519083,;OPRM1,synonymous_variant,p.=,ENST00000522739,;OPRM1,synonymous_variant,p.=,ENST00000524150,;	T	ENST00000434900	Transcript	synonymous_variant	980/2033	462/1482	154/493	P	ccG/ccT		1		1	OPRM1	HGNC	HGNC:8156	protein_coding	YES	CCDS47503.1	ENSP00000394624	P35372		UPI0001899627	NM_001145279.3,NM_001285524.1			3/6		hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF7,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		rs1168832508	.												T	2	4	51	154039727	154039727	G	T	1	0	0	0	0	0	0	0	1	10962	1045	37	1		1	OPRM1	6	154039727	Silent	SNP	G	C3N-00549_TP	9557347	154039727	16766252	158	16348											
ARID1B	0	.	GRCh38	chr6	156901457	156901457	+	Frame_Shift_Del	DEL	C	C	-																															attacagccagcagccgcagCccccgcacctcccaccccag																								rs751317747		C3N-00549_TP	C3N-00549_NB	C	C																c.1862delC	p.Pro621ArgfsTer47	p.P621Rfs*47	ENST00000346085	4/20	347	223	124	412	412	0	sindel-varindel-pindel	ARID1B,frameshift_variant,p.Pro621ArgfsTer47,ENST00000346085,NM_020732.3;ARID1B,frameshift_variant,p.Pro118ArgfsTer47,ENST00000636748,;ARID1B,frameshift_variant,p.Pro608ArgfsTer47,ENST00000636930,;ARID1B,frameshift_variant,p.Pro608ArgfsTer47,ENST00000350026,NM_017519.2;ARID1B,frameshift_variant,p.Pro107ArgfsTer47,ENST00000414678,;ARID1B,frameshift_variant,p.Pro29ArgfsTer47,ENST00000319584,;ARID1B,frameshift_variant,p.Pro97ArgfsTer47,ENST00000638000,;ARID1B,frameshift_variant,p.Pro33ArgfsTer47,ENST00000637532,;ARID1B,non_coding_transcript_exon_variant,,ENST00000636205,;	-	ENST00000346085	Transcript	frameshift_variant	2414/10194	1858/6750	620/2249	P/X	Ccc/cc	rs751317747	1		1	ARID1B	HGNC	HGNC:18040	protein_coding	YES	CCDS55072.1	ENSP00000344546	Q8NFD5		UPI000058E4B2	NM_020732.3			4/20		Low_complexity_(Seg):seg,hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	51	156901457	156901457	C	-	1	0	1	0	1	0	0	0	0	1050	739	26	0		0	ARID1B	6	156901457	Frame_Shift_Del	DEL	C	C3N-00549_TP	2861730	156901457	13904522	159	16349											
LPA	0	.	GRCh38	chr6	160585053	160585053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgatagacatacgcatttgGatagtataatgggatcctcc	13	12	9	7	1	0	2	0	1	0	1	2	4	2	4	2	2	1	2	2	2	5	6	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.4282C>A	p.Pro1428Thr	p.P1428T	ENST00000316300	26/39	380	235	145	275	274	1	strelka-varscan-mutect	LPA,missense_variant,p.Pro1428Thr,ENST00000316300,NM_005577.2;LPA,downstream_gene_variant,,ENST00000447678,;	T	ENST00000316300	Transcript	missense_variant	4327/6414	4282/6123	1428/2040	P/T	Cca/Aca		1		-1	LPA	HGNC	HGNC:6667	protein_coding	YES	CCDS43523.1	ENSP00000321334	P08519		UPI0000458AC9	NM_005577.2	deleterious(0.01)		26/39		Gene3D:2.40.20.10,Pfam_domain:PF00051,PROSITE_profiles:PS50070,hmmpanther:PTHR24261,hmmpanther:PTHR24261:SF2,SMART_domains:SM00130,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		rs1016345351	.												T	3	4	51	160585053	160585053	G	T	1	0	0	0	0	1	0	0	0	8806	1174	41	2		2	LPA	6	160585053	Missense_Mutation	SNP	G	C3N-00549_TP	3683596	160585053	10220926	160	16350											
TCP10L2	0	.	GRCh38	chr6	167177130	167177130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaaccacttagctcctcCaaaggtgacccttcgtgctt	9	12	6	14	1	1	1	0	1	1	0	4	1	3	1	4	1	3	2	4	1	3	4	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.494C>T	p.Pro165Leu	p.P165L	ENST00000366832	4/8	57	28	29	85	85	0	strelka-varscan-mutect	TCP10L2,missense_variant,p.Pro165Leu,ENST00000366832,NM_001145121.1;TCP10L2,downstream_gene_variant,,ENST00000486697,;TCP10L2,missense_variant,p.Pro165Leu,ENST00000283507,;TCP10L2,non_coding_transcript_exon_variant,,ENST00000464222,;TCP10L2,downstream_gene_variant,,ENST00000382669,;	T	ENST00000366832	Transcript	missense_variant	625/2185	494/1062	165/353	P/L	cCa/cTa		1		1	TCP10L2	HGNC	HGNC:21254	protein_coding	YES	CCDS47514.1	ENSP00000355797	B9ZVM9		UPI0000253B82	NM_001145121.1	tolerated(0.19)		4/8		hmmpanther:PTHR10331																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	167177130	167177130	C	T	1	0	0	0	0	1	0	0	0	16119	608	21	3		3	TCP10L2	6	167177130	Missense_Mutation	SNP	C	C3N-00549_TP	6592077	167177130	3628849	161	16351											
TCP10	0	.	GRCh38	chr6	167377959	167377959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcacgaagggtcacctttGgaggagctaagtggttagat	12	9	14	6	1	1	1	1	0	0	1	1	4	1	3	1	4	2	3	1	4	4	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.413C>T	p.Pro138Leu	p.P138L	ENST00000397829	4/8	121	93	28	161	161	0	strelka-varscan-mutect	TCP10,missense_variant,p.Pro134Leu,ENST00000460930,;TCP10,missense_variant,p.Pro138Leu,ENST00000366827,;TCP10,missense_variant,p.Pro164Leu,ENST00000617120,;TCP10,missense_variant,p.Pro138Leu,ENST00000397829,NM_004610.3;TCP10,downstream_gene_variant,,ENST00000476779,;TCP10,downstream_gene_variant,,ENST00000485157,;TCP10,non_coding_transcript_exon_variant,,ENST00000508373,;TCP10,non_coding_transcript_exon_variant,,ENST00000463894,;TCP10,non_coding_transcript_exon_variant,,ENST00000491085,;TCP10,upstream_gene_variant,,ENST00000514083,;	A	ENST00000397829	Transcript	missense_variant	581/2141	413/981	138/326	P/L	cCa/cTa		1		-1	TCP10	HGNC	HGNC:11656	protein_coding	YES	CCDS43527.1	ENSP00000380929		D1MPS5	UPI0000D820CE	NM_004610.3	tolerated(0.16)		4/8		hmmpanther:PTHR10331																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	167377959	167377959	G	A	1	0	0	0	0	1	0	0	0	16117	1362	47	3		3	TCP10	6	167377959	Missense_Mutation	SNP	G	C3N-00549_TP	200829	167377959	3428020	162	16352											
GPER1	0	.	GRCh38	chr7	1092402	1092402	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacgctgggcttcatcgTgcccttcgccatcatcggcc	4	10	11	16	4	3	0	3	0	0	0	6	0	3	0	3	3	1	2	3	3	0	2	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.674T>G	p.Val225Gly	p.V225G	ENST00000397092	3/3	194	132	62	95	94	1	strelka-varscan-mutect	GPER1,missense_variant,p.Val225Gly,ENST00000397092,NM_001039966.1;GPER1,missense_variant,p.Val225Gly,ENST00000297469,NM_001505.2;GPER1,missense_variant,p.Val225Gly,ENST00000397088,NM_001098201.1;GPER1,missense_variant,p.Val225Gly,ENST00000617001,;GPER1,missense_variant,p.Val225Gly,ENST00000401670,;C7orf50,intron_variant,,ENST00000397098,NM_001318252.1;C7orf50,intron_variant,,ENST00000357429,NM_001134395.1,NM_032350.5;C7orf50,intron_variant,,ENST00000397100,NM_001134396.1;C7orf50,intron_variant,,ENST00000491163,;GPER1,downstream_gene_variant,,ENST00000413368,;GPER1,upstream_gene_variant,,ENST00000619052,;C7orf50,intron_variant,,ENST00000488073,;	G	ENST00000397092	Transcript	missense_variant	1558/2971	674/1128	225/375	V/G	gTg/gGg		1		1	GPER1	HGNC	HGNC:4485	protein_coding	YES	CCDS5322.1	ENSP00000380281	Q99527	A0A024R849	UPI00000503F2	NM_001039966.1	deleterious(0)		3/3		PROSITE_profiles:PS50262,hmmpanther:PTHR24226:SF2,hmmpanther:PTHR24226,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	51	1092402	1092402	T	G	1	0	0	0	0	1	0	0	0	6509	1696	59	5		5	GPER1	7	1092402	Missense_Mutation	SNP	T	C3N-00549_TP		1092402	158253571	163	16353											
MIOS	0	.	GRCh38	chr7	7583150	7583150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagacataattggagtGggttggataagcaaagtgat	14	9	14	4	0	0	2	0	1	0	1	0	4	0	4	0	3	2	4	0	3	3	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1426G>T	p.Gly476Trp	p.G476W	ENST00000340080	6/13	176	79	97	75	75	0	strelka-varscan-mutect	MIOS,missense_variant,p.Gly476Trp,ENST00000340080,NM_019005.3;MIOS,missense_variant,p.Gly476Trp,ENST00000405785,;MIOS,non_coding_transcript_exon_variant,,ENST00000461907,;MIOS,non_coding_transcript_exon_variant,,ENST00000493227,;	T	ENST00000340080	Transcript	missense_variant	1847/3453	1426/2628	476/875	G/W	Ggg/Tgg		1		1	MIOS	HGNC	HGNC:21905	protein_coding	YES	CCDS43554.1	ENSP00000339881	Q9NXC5	A0A024RA24	UPI000020EB0B	NM_019005.3	deleterious(0.04)		6/13		hmmpanther:PTHR16453,hmmpanther:PTHR16453:SF9																	MODERATE	1	SNV	1			1										PASS		rs1392480213	.												T	3	4	51	7583150	7583150	G	T	1	0	0	0	0	1	0	0	0	9554	1348	47	2		2	MIOS	7	7583150	Missense_Mutation	SNP	G	C3N-00549_TP	6490748	7583150	151762823	164	16354											
GLCCI1	0	.	GRCh38	chr7	8055434	8055434	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttccctgtccccaaagcAgatcgccaaactgaggcagc	10	8	8	15	1	1	2	0	1	1	1	4	2	3	2	4	1	3	2	4	1	2	1	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.698A>T	p.Gln233Leu	p.Q233L	ENST00000223145	4/8	236	164	72	145	145	0	strelka-varscan-mutect	GLCCI1,splice_acceptor_variant,,ENST00000414914,;GLCCI1,missense_variant,p.Gln233Leu,ENST00000223145,NM_138426.3;GLCCI1,missense_variant,p.Gln121Leu,ENST00000430798,;GLCCI1,splice_acceptor_variant,,ENST00000470583,;GLCCI1,splice_region_variant,,ENST00000474269,;GLCCI1,upstream_gene_variant,,ENST00000496617,;GLCCI1,splice_acceptor_variant,,ENST00000489405,;GLCCI1,upstream_gene_variant,,ENST00000438949,;	T	ENST00000223145	Transcript	missense_variant,splice_region_variant	1255/4743	698/1644	233/547	Q/L	cAg/cTg		1		1	GLCCI1	HGNC	HGNC:18713	protein_coding	YES	CCDS34601.1	ENSP00000223145	Q86VQ1		UPI00001907F7	NM_138426.3	deleterious_low_confidence(0)		4/8		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15388,hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	8055434	8055434	A	T	1	0	0	0	0	1	0	0	0	6309	202	7	4		4	GLCCI1	7	8055434	Missense_Mutation	SNP	A	C3N-00549_TP	472284	8055434	151290539	165	16355											
HDAC9	0	.	GRCh38	chr7	18585372	18585372	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgatgatgcccgtggtggaCcctgttgtccgtgagaagca	8	10	14	9	2	0	3	0	3	0	1	1	5	1	4	3	2	2	2	3	2	1	1			C3N-00549_TP	C3N-00549_NB	C	C																c.114C>T	p.=	p.D38D	ENST00000441542	2/25	643	483	160	457	457	0	strelka-varscan-mutect	HDAC9,synonymous_variant,p.=,ENST00000406451,NM_001321897.1,NM_178423.1;HDAC9,synonymous_variant,p.=,ENST00000622668,NM_001321879.1,NM_001321885.1,NM_001321893.1,NM_001321891.1,NM_001321894.1,NM_001204146.1;HDAC9,synonymous_variant,p.=,ENST00000405010,NM_001321869.1,NM_001321870.1,NM_001321874.1,NM_001321875.1,NM_001321884.1,NM_001321886.1,NM_001321887.1,NM_001321890.1,NM_001321899.1,NM_001321900.1,NM_001321901.1,NM_001321902.1,NM_014707.1;HDAC9,synonymous_variant,p.=,ENST00000406072,NM_001321871.1,NM_001321872.1,NM_001321873.1,NM_001321888.1,NM_001321895.1,NM_001321898.1;HDAC9,synonymous_variant,p.=,ENST00000401921,;HDAC9,synonymous_variant,p.=,ENST00000441542,NM_178425.2;HDAC9,synonymous_variant,p.=,ENST00000432645,NM_058176.2;HDAC9,synonymous_variant,p.=,ENST00000417496,NM_001204144.1;HDAC9,synonymous_variant,p.=,ENST00000428307,NM_001204145.1;HDAC9,synonymous_variant,p.=,ENST00000456174,NM_001204148.1;HDAC9,synonymous_variant,p.=,ENST00000524023,NM_001204147.1;HDAC9,synonymous_variant,p.=,ENST00000413380,;HDAC9,synonymous_variant,p.=,ENST00000441986,;HDAC9,synonymous_variant,p.=,ENST00000413509,;HDAC9,synonymous_variant,p.=,ENST00000430454,;HDAC9,downstream_gene_variant,,ENST00000433709,;HDAC9,non_coding_transcript_exon_variant,,ENST00000476135,;HDAC9,missense_variant,p.Pro35Ser,ENST00000446646,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;	T	ENST00000441542	Transcript	synonymous_variant	114/3210	114/3210	38/1069	D	gaC/gaT	COSM1549505,COSM1549506,COSM1549507,COSM1549508	1		1	HDAC9	HGNC	HGNC:14065	protein_coding	YES	CCDS47553.1	ENSP00000408617	Q9UKV0		UPI000019AB75	NM_178425.2			2/25		Low_complexity_(Seg):seg,Pfam_domain:PF12203,PIRSF_domain:PIRSF037911											1,1,1,1						LOW	1	SNV	1		1,1,1,1	1										PASS		.	.												T	2	4	51	18585372	18585372	C	T	1	0	0	0	0	0	0	0	1	6901	506	18	3		3	HDAC9	7	18585372	Silent	SNP	C	C3N-00549_TP	10529938	18585372	140760601	166	16356											
FERD3L	0	.	GRCh38	chr7	19145294	19145294	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagagggcgtctcggggaGgccagggacaggtctgcgac	8	4	20	9	3	2	1	0	0	2	1	3	5	2	3	1	7	1	0	1	7	0	0			C3N-00549_TP	C3N-00549_NB	G	G																c.69C>A	p.=	p.A23A	ENST00000275461	1/1	231	164	67	109	109	0	strelka-varscan-mutect	FERD3L,synonymous_variant,p.=,ENST00000275461,NM_152898.2;AC003986.5,non_coding_transcript_exon_variant,,ENST00000452700,;	T	ENST00000275461	Transcript	synonymous_variant	128/640	69/501	23/166	A	gcC/gcA	COSM4505696	1		-1	FERD3L	HGNC	HGNC:16660	protein_coding	YES	CCDS5368.1	ENSP00000275461	Q96RJ6		UPI0000073BBA	NM_152898.2			1/1		hmmpanther:PTHR23349:SF63,hmmpanther:PTHR23349											1						LOW		SNV			1	1										PASS		rs1159435662	.												T	2	4	51	19145294	19145294	G	T	1	0	0	0	0	0	0	0	1	5679	987	35	2		2	FERD3L	7	19145294	Silent	SNP	G	C3N-00549_TP	559922	19145294	140200679	167	16357											
NEUROD6	0	.	GRCh38	chr7	31338954	31338954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgttgaggccgtgcatcctGttcctctcgcgcgcgttcgc	2	12	12	15	7	1	1	0	1	1	0	6	1	3	1	3	1	1	4	3	1	0	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.315C>A	p.Asn105Lys	p.N105K	ENST00000297142	2/2	436	293	143	224	222	2	strelka-varscan-mutect	NEUROD6,missense_variant,p.Asn105Lys,ENST00000297142,NM_022728.3;	T	ENST00000297142	Transcript	missense_variant	638/2131	315/1014	105/337	N/K	aaC/aaA		1		-1	NEUROD6	HGNC	HGNC:13804	protein_coding	YES	CCDS5434.1	ENSP00000297142	Q96NK8	A0A090N7T3	UPI000000D77D	NM_022728.3	deleterious(0.01)		2/2		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50888,hmmpanther:PTHR19290:SF9,hmmpanther:PTHR19290,Gene3D:4.10.280.10,Pfam_domain:PF00010,PIRSF_domain:PIRSF015618,SMART_domains:SM00353,Superfamily_domains:SSF47459																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	31338954	31338954	G	T	1	0	0	0	0	1	0	0	0	10388	1368	48	2		2	NEUROD6	7	31338954	Missense_Mutation	SNP	G	C3N-00549_TP	12193660	31338954	128007019	168	16358											
PDE1C	0	.	GRCh38	chr7	31850673	31850673	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaaattgttggtggttccGgtatgctcgtagtcatggat	7	15	14	5	2	1	0	1	0	0	0	3	2	2	2	1	5	1	5	1	5	3	5	rs758775742		C3N-00549_TP	C3N-00549_NB	G	G																c.999C>A	p.=	p.T333T	ENST00000396193	9/19	476	373	103	247	247	0	strelka-varscan-mutect	PDE1C,synonymous_variant,p.=,ENST00000396184,NM_001322057.1,NM_001322056.1,NM_001322059.1,NM_005020.3;PDE1C,synonymous_variant,p.=,ENST00000396193,NM_001191058.2;PDE1C,synonymous_variant,p.=,ENST00000396191,NM_001191057.2;PDE1C,synonymous_variant,p.=,ENST00000321453,NM_001191059.2;PDE1C,synonymous_variant,p.=,ENST00000396182,NM_001191056.2;PDE1C,non_coding_transcript_exon_variant,,ENST00000478736,;	T	ENST00000396193	Transcript	synonymous_variant	1593/5109	999/2310	333/769	T	acC/acA	rs758775742,COSM1144545,COSM600936,COSM600937	1		-1	PDE1C	HGNC	HGNC:8776	protein_coding	YES	CCDS55100.1	ENSP00000379496		A0A0A0MS69	UPI00043788D1	NM_001191058.2			9/19		Gene3D:1.10.1300.10,Pfam_domain:PF00233,Prints_domain:PR00387,PROSITE_patterns:PS00126,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF32,SMART_domains:SM00471,Superfamily_domains:SSF109604											0,1,1,1						LOW	1	SNV	2		0,1,1,1	1										PASS		rs758775742	.												T	2	4	51	31850673	31850673	G	T	1	0	0	0	0	0	0	0	1	11723	1103	39	1		1	PDE1C	7	31850673	Silent	SNP	G	C3N-00549_TP	511719	31850673	127495300	169	16359											
DPY19L1	0	.	GRCh38	chr7	34938121	34938121	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactatttttgttctggctcTttaaagaaaaataattgggc	12	17	7	5	0	2	1	0	0	2	1	2	1	2	1	0	2	1	2	0	2	7	9	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.1746-2A>T		p.X582_splice	ENST00000310974		110	89	21	48	48	0	strelka-varscan-mutect	DPY19L1,splice_acceptor_variant,,ENST00000638088,;DPY19L1,splice_acceptor_variant,,ENST00000310974,NM_015283.1;DPY19L1,splice_acceptor_variant,,ENST00000612226,;DPY19L1,intron_variant,,ENST00000428054,;MIR548N,downstream_gene_variant,,ENST00000408742,;	A	ENST00000310974	Transcript	splice_acceptor_variant	-/4870	1746/2028	582/675				1		-1	DPY19L1	HGNC	HGNC:22205	protein_coding	YES	CCDS43567.1	ENSP00000308695	Q2PZI1		UPI000067CB92	NM_015283.1				20/21																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	51	34938121	34938121	T	A	1	0	0	0	0	0	0	1	0	4555	1623	56	4		4	DPY19L1	7	34938121	Splice_Site	SNP	T	C3N-00549_TP	3087448	34938121	124407852	170	16360											
POU6F2	0	.	GRCh38	chr7	39207465	39207465	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccccccagccctcaaccAgccaatcctcattcccttca	9	7	4	21	0	3	0	3	0	0	0	5	0	5	0	8	1	3	0	8	1	2	2	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.356A>T	p.Gln119Leu	p.Q119L	ENST00000403058	5/11	496	197	299	254	254	0	strelka-varscan-mutect	POU6F2,missense_variant,p.Gln119Leu,ENST00000518318,NM_001166018.1;POU6F2,missense_variant,p.Gln111Leu,ENST00000559001,;POU6F2,missense_variant,p.Gln119Leu,ENST00000403058,NM_007252.3;POU6F2,missense_variant,p.Gln111Leu,ENST00000524147,;POU6F2,missense_variant,p.Gln111Leu,ENST00000520104,;POU6F2,missense_variant,p.Gln120Leu,ENST00000451021,;POU6F2,non_coding_transcript_exon_variant,,ENST00000517348,;	T	ENST00000403058	Transcript	missense_variant	510/2335	356/2076	119/691	Q/L	cAg/cTg		1		1	POU6F2	HGNC	HGNC:21694	protein_coding	YES	CCDS34620.2	ENSP00000384004	P78424		UPI0000480E81	NM_007252.3	deleterious(0)		5/11		hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF68																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	51	39207465	39207465	A	T	1	0	0	0	0	1	0	0	0	12401	188	7	4		4	POU6F2	7	39207465	Missense_Mutation	SNP	A	C3N-00549_TP	4269344	39207465	120138508	171	16361											
POU6F2	0	.	GRCh38	chr7	39433133	39433133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatcgagccaagcagcaagCggcactcagggcttgcaagt	11	5	12	13	2	1	0	1	0	0	0	2	1	1	0	2	2	5	5	2	2	3	1	rs368929654		C3N-00549_TP	C3N-00549_NB	C	C																c.1083C>G	p.Ser361Arg	p.S361R	ENST00000403058	8/11	483	334	149	240	240	0	strelka-varscan-mutect	POU6F2,missense_variant,p.Ser361Arg,ENST00000518318,NM_001166018.1;POU6F2,missense_variant,p.Ser306Arg,ENST00000559001,;POU6F2,missense_variant,p.Ser361Arg,ENST00000403058,NM_007252.3;POU6F2,missense_variant,p.Ser306Arg,ENST00000524147,;POU6F2,missense_variant,p.Ser353Arg,ENST00000520104,;POU6F2,missense_variant,p.Ser60Arg,ENST00000416452,;	G	ENST00000403058	Transcript	missense_variant	1237/2335	1083/2076	361/691	S/R	agC/agG	rs368929654	1		1	POU6F2	HGNC	HGNC:21694	protein_coding	YES	CCDS34620.2	ENSP00000384004	P78424		UPI0000480E81	NM_007252.3	deleterious(0.02)		8/11		hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF68																	MODERATE	1	SNV	5			1										PASS		rs368929654	.												G	3	3	51	39433133	39433133	C	G	1	0	0	0	0	1	0	0	0	12401	767	27	4		4	POU6F2	7	39433133	Missense_Mutation	SNP	C	C3N-00549_TP	225668	39433133	119912840	172	16362											
NPC1L1	0	.	GRCh38	chr7	44539592	44539592	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggagtcgagggcctgggGgcgggctatggcaggacagg	6	5	23	7	2	0	0	0	0	0	0	1	3	0	2	1	9	0	2	1	9	1	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.805C>G	p.Pro269Ala	p.P269A	ENST00000289547	2/20	234	149	85	176	176	0	strelka-varscan-mutect	NPC1L1,missense_variant,p.Pro269Ala,ENST00000289547,NM_013389.2;NPC1L1,missense_variant,p.Pro269Ala,ENST00000546276,;NPC1L1,missense_variant,p.Pro269Ala,ENST00000381160,NM_001101648.1;NPC1L1,missense_variant,p.Pro269Ala,ENST00000423141,NM_001300967.1;	C	ENST00000289547	Transcript	missense_variant	861/5048	805/4080	269/1359	P/A	Ccc/Gcc		1		-1	NPC1L1	HGNC	HGNC:7898	protein_coding	YES	CCDS5491.1	ENSP00000289547	Q9UHC9		UPI000013DF88	NM_013389.2	tolerated(0.07)		2/20		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89,Pfam_domain:PF16414																	MODERATE	1	SNV	1			1										PASS		rs1267125217	.												C	3	2	51	44539592	44539592	G	C	1	0	0	0	0	1	0	0	0	10619	1232	43	4		4	NPC1L1	7	44539592	Missense_Mutation	SNP	G	C3N-00549_TP	5106459	44539592	114806381	173	16363											
NACAD	0	.	GRCh38	chr7	45085706	45085706	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcacagaaagatcaccCtgagaacacagctcgggggg	14	3	14	10	1	1	3	1	1	0	3	2	5	1	3	1	4	2	2	1	4	3	0	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.474G>A	p.=	p.Q158Q	ENST00000490531	2/8	144	89	55	119	119	0	strelka-varscan-mutect	NACAD,synonymous_variant,p.=,ENST00000490531,NM_001146334.1;NACAD,upstream_gene_variant,,ENST00000460409,;	T	ENST00000490531	Transcript	synonymous_variant	494/4780	474/4689	158/1562	Q	caG/caA		1		-1	NACAD	HGNC	HGNC:22196	protein_coding	YES	CCDS47582.1	ENSP00000420477	O15069		UPI00001D747D	NM_001146334.1			2/8		hmmpanther:PTHR21713:SF1,hmmpanther:PTHR21713																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	51	45085706	45085706	C	T	1	0	0	0	0	0	0	0	1	10141	680	24	3		3	NACAD	7	45085706	Silent	SNP	C	C3N-00549_TP	546114	45085706	114260267	174	16364											
ADCY1	0	.	GRCh38	chr7	45592783	45592783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaatgccttgctcttcGtcggtgtgaacatgtatggg	6	13	13	9	2	1	1	0	1	1	0	3	1	1	1	2	2	4	2	2	2	3	3	rs369079165		C3N-00549_TP	C3N-00549_NB	G	G																c.664G>A	p.Val222Ile	p.V222I	ENST00000297323	2/20	225	142	83	175	175	0	strelka-varscan-mutect	ADCY1,missense_variant,p.Val222Ile,ENST00000297323,NM_021116.2;ADCY1,5_prime_UTR_variant,,ENST00000432715,NM_001281768.1;ADCY1,5_prime_UTR_variant,,ENST00000621543,;	A	ENST00000297323	Transcript	missense_variant	686/12503	664/3360	222/1119	V/I	Gtc/Atc	rs369079165,COSM453130	1		1	ADCY1	HGNC	HGNC:232	protein_coding	YES	CCDS34631.1	ENSP00000297323	Q08828		UPI0000199C4A	NM_021116.2	tolerated(0.69)		2/20		Transmembrane_helices:TMhelix,hmmpanther:PTHR11920:SF336,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050,Pfam_domain:PF16214											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs369079165	.												A	3	1	51	45592783	45592783	G	A	1	0	0	0	0	1	0	0	0	336	1145	40	1		1	ADCY1	7	45592783	Missense_Mutation	SNP	G	C3N-00549_TP	507077	45592783	113753190	175	16365											
ABCA13	0	.	GRCh38	chr7	48374365	48374365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccttctttcgacaaccGcctttggacaaggggtattt	8	13	10	10	2	1	0	0	0	1	0	2	2	1	1	3	3	2	1	3	3	3	5	rs777083484		C3N-00549_TP	C3N-00549_NB	G	G																c.11152G>T	p.Ala3718Ser	p.A3718S	ENST00000435803	34/62	180	100	80	276	276	0	strelka-varscan-mutect	ABCA13,missense_variant,p.Ala3718Ser,ENST00000435803,NM_152701.4;ABCA13,missense_variant,p.Ala1025Ser,ENST00000544596,;ABCA13,non_coding_transcript_exon_variant,,ENST00000611776,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;ABCA13,upstream_gene_variant,,ENST00000453246,;	T	ENST00000435803	Transcript	missense_variant	11176/17184	11152/15177	3718/5058	A/S	Gcc/Tcc	rs777083484,COSM3264800,COSM3264801	1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4	deleterious(0.02)		34/62		Transmembrane_helices:TMhelix,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Pfam_domain:PF12698											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs777083484	.												T	3	4	51	48374365	48374365	G	T	1	0	0	0	0	1	0	0	0	35	1087	38	1		1	ABCA13	7	48374365	Missense_Mutation	SNP	G	C3N-00549_TP	2781582	48374365	110971608	176	16366											
SEPT14	0	.	GRCh38	chr7	55834486	55834486	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagctgatatatctggAtgccattgctaatcaattca	11	14	9	7	0	3	1	2	1	1	0	3	3	3	3	1	2	3	2	1	2	4	6	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.659T>A	p.Ile220Asn	p.I220N	ENST00000388975	6/10	152	108	44	116	116	0	strelka-varscan-mutect	SEPT14,missense_variant,p.Ile220Asn,ENST00000388975,NM_207366.2;	T	ENST00000388975	Transcript	missense_variant	776/3785	659/1299	220/432	I/N	aTc/aAc		1		-1	SEPT14	HGNC	HGNC:33280	protein_coding	YES	CCDS5519.2	ENSP00000373627	Q6ZU15		UPI0000E0AB69	NM_207366.2	deleterious(0)		6/10		PROSITE_profiles:PS51719,hmmpanther:PTHR18884:SF51,hmmpanther:PTHR18884,Pfam_domain:PF00735,PIRSF_domain:PIRSF006698,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	51	55834486	55834486	A	T	1	0	0	0	0	1	0	0	0	14339	333	12	4		4	SEPT14	7	55834486	Missense_Mutation	SNP	A	C3N-00549_TP	7460121	55834486	103511487	177	16367											
RUNDC3B	0	.	GRCh38	chr7	87693907	87693907	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgttattttttttttaaaGagatttcccaaagttgcaga	11	19	7	4	0	0	2	0	0	0	2	1	3	1	2	1	0	1	4	1	0	4	9	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.239-1G>A		p.X80_splice	ENST00000338056		111	79	32	146	146	0	strelka-varscan-mutect	RUNDC3B,splice_acceptor_variant,,ENST00000338056,NM_138290.2;ABCB1,intron_variant,,ENST00000265724,NM_000927.4;ABCB1,intron_variant,,ENST00000543898,;RUNDC3B,intron_variant,,ENST00000394654,NM_001134405.1;RUNDC3B,intron_variant,,ENST00000493037,NM_001134406.1;ABCB1,intron_variant,,ENST00000416177,;RUNDC3B,splice_acceptor_variant,,ENST00000466676,;RUNDC3B,intron_variant,,ENST00000489461,;ABCB1,intron_variant,,ENST00000476862,;RUNDC3B,intron_variant,,ENST00000497788,;RUNDC3B,intron_variant,,ENST00000476114,;	A	ENST00000338056	Transcript	splice_acceptor_variant	-/4099	239/1422	80/473				1		1	RUNDC3B	HGNC	HGNC:30286	protein_coding	YES	CCDS5609.1	ENSP00000337732	Q96NL0		UPI0000071425	NM_138290.2				2/11																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	51	87693907	87693907	G	A	1	0	0	0	0	0	0	1	0	14006	956	33	3		3	RUNDC3B	7	87693907	Splice_Site	SNP	G	C3N-00549_TP	31859421	87693907	71652066	178	16368											
CFAP69	0	.	GRCh38	chr7	90299938	90299938	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgataatcccaaaactgcAgctcatgtcaatgcttggca	12	11	8	10	0	2	1	2	1	0	0	3	1	3	1	1	1	4	4	1	1	4	2	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.1929A>T	p.=	p.A643A	ENST00000389297	17/23	175	95	80	198	198	0	strelka-varscan-mutect	CFAP69,synonymous_variant,p.=,ENST00000389297,NM_001039706.2;CFAP69,synonymous_variant,p.=,ENST00000497910,NM_001160138.1;CFAP69,synonymous_variant,p.=,ENST00000449577,;CFAP69,intron_variant,,ENST00000457170,;CFAP69,upstream_gene_variant,,ENST00000412839,;CFAP69,3_prime_UTR_variant,,ENST00000451029,;CFAP69,3_prime_UTR_variant,,ENST00000427396,;CFAP69,non_coding_transcript_exon_variant,,ENST00000475031,;	T	ENST00000389297	Transcript	synonymous_variant	2180/3902	1929/2826	643/941	A	gcA/gcT		1		1	CFAP69	HGNC	HGNC:26107	protein_coding	YES	CCDS43613.2	ENSP00000373948	A5D8W1		UPI000066DA29	NM_001039706.2			17/23		hmmpanther:PTHR14716:SF0,hmmpanther:PTHR14716,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	51	90299938	90299938	A	T	1	0	0	0	0	0	0	0	1	3030	175	7	4		4	CFAP69	7	90299938	Silent	SNP	A	C3N-00549_TP	2606031	90299938	69046035	179	16369											
CUX1	0	.	GRCh38	chr7	102197187	102197187	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgagcgagattctggcccgGcccaagccatggaataaact	11	7	12	11	2	1	2	0	1	1	1	1	4	1	3	3	3	3	0	3	3	4	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1809G>T	p.=	p.R603R	ENST00000360264	15/24	379	189	190	355	355	0	strelka-varscan-mutect	CUX1,synonymous_variant,p.=,ENST00000360264,NM_001202543.1;CUX1,synonymous_variant,p.=,ENST00000292535,NM_181552.3;CUX1,synonymous_variant,p.=,ENST00000549414,;CUX1,synonymous_variant,p.=,ENST00000550008,;CUX1,synonymous_variant,p.=,ENST00000546411,;CUX1,synonymous_variant,p.=,ENST00000556210,;CUX1,intron_variant,,ENST00000437600,NM_001913.4;CUX1,intron_variant,,ENST00000622516,NM_181500.3;CUX1,intron_variant,,ENST00000292538,;CUX1,intron_variant,,ENST00000547394,NM_001202544.2;CUX1,intron_variant,,ENST00000425244,NM_001202545.2;CUX1,intron_variant,,ENST00000393824,NM_001202546.2;SNORA48,upstream_gene_variant,,ENST00000517015,;CUX1,intron_variant,,ENST00000560541,;CUX1,intron_variant,,ENST00000558836,;	T	ENST00000360264	Transcript	synonymous_variant	1829/13762	1809/4551	603/1516	R	cgG/cgT		1		1	CUX1	HGNC	HGNC:2557	protein_coding	YES	CCDS56498.1	ENSP00000353401	P39880		UPI00001AEB98	NM_001202543.1			15/24		PROSITE_profiles:PS51042,hmmpanther:PTHR14043:SF4,hmmpanther:PTHR14043,Gene3D:1.10.260.40,Pfam_domain:PF02376,SMART_domains:SM01109,Superfamily_domains:SSF47413																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	51	102197187	102197187	G	T	1	0	0	0	0	0	0	0	1	3874	1190	42	2		2	CUX1	7	102197187	Silent	SNP	G	C3N-00549_TP	11897249	102197187	57148786	180	16370											
RELN	0	.	GRCh38	chr7	103503135	103503135	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcagcaggcaagcactgaggGaccagataattccaactcac	14	6	9	12	0	2	2	2	1	0	1	3	3	3	3	2	2	3	3	2	2	3	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.8370C>G	p.=	p.V2790V	ENST00000428762	52/65	603	323	280	652	651	1	strelka-varscan-mutect	RELN,synonymous_variant,p.=,ENST00000424685,;RELN,synonymous_variant,p.=,ENST00000428762,NM_005045.3;RELN,synonymous_variant,p.=,ENST00000343529,NM_173054.2;CTB-107G13.1,intron_variant,,ENST00000422488,;	C	ENST00000428762	Transcript	synonymous_variant	8530/11571	8370/10383	2790/3460	V	gtC/gtG		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3			52/65		hmmpanther:PTHR11841,Gene3D:2.130.10.140,Superfamily_domains:SSF50939,Superfamily_domains:SSF50939																	LOW		SNV	5			1										PASS		.	.												C	2	2	51	103503135	103503135	G	C	1	0	0	0	0	0	0	0	1	13390	1161	41	4		4	RELN	7	103503135	Silent	SNP	G	C3N-00549_TP	1305948	103503135	55842838	181	16371											
RELN	0	.	GRCh38	chr7	103636385	103636385	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tatggtaagaggagagcctgGaactgccaaagctttcagaa	14	8	12	7	0	1	3	1	0	0	3	1	5	1	4	2	3	4	2	2	3	5	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.2153C>G	p.Ser718Cys	p.S718C	ENST00000428762	18/65	487	364	123	551	551	0	strelka-varscan-mutect	RELN,missense_variant,p.Ser718Cys,ENST00000424685,;RELN,missense_variant,p.Ser718Cys,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Ser718Cys,ENST00000343529,NM_173054.2;	C	ENST00000428762	Transcript	missense_variant	2313/11571	2153/10383	718/3460	S/C	tCc/tGc		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3	deleterious(0.01)		18/65		hmmpanther:PTHR11841																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	51	103636385	103636385	G	C	1	0	0	0	0	1	0	0	0	13390	1174	41	4		4	RELN	7	103636385	Missense_Mutation	SNP	G	C3N-00549_TP	133250	103636385	55709588	182	16372											
KCP	0	.	GRCh38	chr7	128884826	128884826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccccaggctggaagctCtccccaggctcgtacttccg	5	9	10	17	2	2	0	0	0	2	0	5	1	3	1	5	3	3	4	5	3	2	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.3078G>T	p.Glu1026Asp	p.E1026D	ENST00000610776	28/40	228	134	94	260	260	0	strelka-varscan-mutect	KCP,missense_variant,p.Glu1026Asp,ENST00000610776,;KCP,missense_variant,p.Glu1030Asp,ENST00000613019,;KCP,missense_variant,p.Glu966Asp,ENST00000620378,NM_001135914.1;KCP,missense_variant,p.Glu1030Asp,ENST00000611280,;KCP,upstream_gene_variant,,ENST00000492679,;	A	ENST00000610776	Transcript	missense_variant	3121/5108	3078/4887	1026/1628	E/D	gaG/gaT		1		-1	KCP	HGNC	HGNC:17585	protein_coding	YES		ENSP00000479679		A0A087WVT8	UPI0004620CE8		tolerated(0.55)		28/40		PROSITE_profiles:PS50184,hmmpanther:PTHR11339:SF280,hmmpanther:PTHR11339,SMART_domains:SM00214,Superfamily_domains:SSF57603																	MODERATE	1	SNV	5			1										PASS		rs1378052717	.												A	3	1	51	128884826	128884826	C	A	1	0	0	0	0	1	0	0	0	8012	912	32	2		2	KCP	7	128884826	Missense_Mutation	SNP	C	C3N-00549_TP	25248441	128884826	30461147	183	16373											
CPA4	0	.	GRCh38	chr7	130312055	130312055	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacaaggtggcgaggctTgcggccaaagctctggcttc	8	7	15	11	2	1	0	0	0	1	0	2	2	1	1	1	6	2	3	1	6	2	2	rs779579199		C3N-00549_TP	C3N-00549_NB	T	T																c.1011T>A	p.=	p.L337L	ENST00000222482	10/11	195	97	98	205	205	0	strelka-varscan-mutect	CPA4,synonymous_variant,p.=,ENST00000222482,NM_016352.3;CPA4,synonymous_variant,p.=,ENST00000445470,NM_001163446.1;CPA4,synonymous_variant,p.=,ENST00000493259,;CPA4,non_coding_transcript_exon_variant,,ENST00000488025,;	A	ENST00000222482	Transcript	synonymous_variant	1039/2797	1011/1266	337/421	L	ctT/ctA	rs779579199	1		1	CPA4	HGNC	HGNC:15740	protein_coding	YES	CCDS5818.1	ENSP00000222482	Q9UI42	A4D1M3	UPI0000048F00	NM_016352.3			10/11		Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF50,SMART_domains:SM00631,Superfamily_domains:SSF53187																	LOW	1	SNV	1			1										PASS		rs779579199	.												A	2	1	51	130312055	130312055	T	A	1	0	0	0	0	0	0	0	1	3586	1799	63	4		4	CPA4	7	130312055	Silent	SNP	T	C3N-00549_TP	1427229	130312055	29033918	184	16374											
CPA1	0	.	GRCh38	chr7	130382189	130382189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaacacctatgaagggCgtcccatttacgtgctgaag	10	10	11	10	2	0	2	0	2	0	0	1	2	1	2	2	2	3	2	2	2	5	4	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.463C>A	p.Arg155Ser	p.R155S	ENST00000011292	4/10	127	74	53	142	142	0	strelka-varscan-mutect	CPA1,missense_variant,p.Arg155Ser,ENST00000011292,NM_001868.3;CPA1,missense_variant,p.Arg67Ser,ENST00000484324,;CPA1,missense_variant,p.Arg67Ser,ENST00000476062,;CPA1,missense_variant,p.Arg67Ser,ENST00000481342,;CPA1,intron_variant,,ENST00000604896,;CPA1,non_coding_transcript_exon_variant,,ENST00000491460,;CPA1,upstream_gene_variant,,ENST00000479106,;CPA1,upstream_gene_variant,,ENST00000478096,;CPA1,upstream_gene_variant,,ENST00000470838,;	A	ENST00000011292	Transcript	missense_variant	613/1487	463/1260	155/419	R/S	Cgt/Agt		1		1	CPA1	HGNC	HGNC:2296	protein_coding	YES	CCDS5820.1	ENSP00000011292	P15085		UPI000004D332	NM_001868.3	deleterious(0)		4/10		hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF74,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187,Prints_domain:PR00765																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	130382189	130382189	C	A	1	0	0	0	0	1	0	0	0	3583	768	27	1		1	CPA1	7	130382189	Missense_Mutation	SNP	C	C3N-00549_TP	70134	130382189	28963784	185	16375											
AKR1B15	0	.	GRCh38	chr7	134564639	134564639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatggtcttacaaatggaacCccaagtgaactcaactaaca	16	8	7	10	0	2	1	1	1	1	0	2	3	2	2	2	2	5	0	2	2	7	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.20C>A	p.Pro7His	p.P7H	ENST00000457545	3/12	109	56	53	110	110	0	strelka-varscan-mutect	AKR1B15,missense_variant,p.Pro7His,ENST00000457545,NM_001080538.2;AKR1B15,missense_variant,p.Pro7His,ENST00000423958,;AKR1B15,upstream_gene_variant,,ENST00000467156,;	A	ENST00000457545	Transcript	missense_variant	280/1621	20/1035	7/344	P/H	cCc/cAc		1		1	AKR1B15	HGNC	HGNC:37281	protein_coding	YES	CCDS47715.2	ENSP00000389289	C9JRZ8		UPI00004193E1	NM_001080538.2			3/12																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	51	134564639	134564639	C	A	1	0	0	0	0	1	0	0	0	552	623	22	2		2	AKR1B15	7	134564639	Missense_Mutation	SNP	C	C3N-00549_TP	4182450	134564639	24781334	186	16376											
DENND2A	0	.	GRCh38	chr7	140601880	140601880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggatccagccctgccgacCcatccttcaaagcctgctcg	7	7	10	17	2	1	0	1	0	0	0	4	2	3	1	6	2	4	1	6	2	1	1	rs764964047		C3N-00549_TP	C3N-00549_NB	C	C																c.518G>A	p.Gly173Glu	p.G173E	ENST00000275884	2/19	228	162	66	252	252	0	strelka-varscan-mutect	DENND2A,missense_variant,p.Gly173Glu,ENST00000275884,NM_001318052.1;DENND2A,missense_variant,p.Gly173Glu,ENST00000492720,NM_001318053.1;DENND2A,missense_variant,p.Gly173Glu,ENST00000496613,;DENND2A,missense_variant,p.Gly173Glu,ENST00000537639,NM_015689.3;DENND2A,intron_variant,,ENST00000475837,;DENND2A,downstream_gene_variant,,ENST00000491728,;DENND2A,downstream_gene_variant,,ENST00000477488,;DENND2A,downstream_gene_variant,,ENST00000489552,;DENND2A,missense_variant,p.Gly173Glu,ENST00000461883,;	T	ENST00000275884	Transcript	missense_variant	936/3735	518/3030	173/1009	G/E	gGg/gAg	rs764964047	1		-1	DENND2A	HGNC	HGNC:22212	protein_coding	YES	CCDS43659.1	ENSP00000275884	Q9ULE3		UPI00001C1E63	NM_001318052.1	tolerated(0.26)		2/19		hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF3																	MODERATE	1	SNV	1			1										PASS		rs764964047	.												T	3	4	51	140601880	140601880	C	T	1	0	0	0	0	1	0	0	0	4233	623	22	3		3	DENND2A	7	140601880	Missense_Mutation	SNP	C	C3N-00549_TP	6037241	140601880	18744093	187	16377											
CNTNAP2	0	.	GRCh38	chr7	147300239	147300239	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgaagcatcagcagttCgaactaatagtccccttcaa	14	9	8	10	1	2	2	2	1	0	1	4	4	3	2	2	0	3	3	2	0	5	4	rs752550849		C3N-00549_TP	C3N-00549_NB	C	C																c.1447C>A	p.=	p.R483R	ENST00000361727	9/24	328	252	76	339	339	0	strelka-varscan-mutect	CNTNAP2,synonymous_variant,p.=,ENST00000361727,NM_014141.5;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637694,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637825,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,;	A	ENST00000361727	Transcript	synonymous_variant	1965/9896	1447/3996	483/1331	R	Cga/Aga	rs752550849,COSM1699530,COSM3879063	1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5			9/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644,SMART_domains:SM00282,Superfamily_domains:SSF49899										pathogenic	0,1,1						LOW	1	SNV	1		1,1,1	1										PASS		rs752550849	.												A	2	1	51	147300239	147300239	C	A	1	0	0	0	0	0	0	0	1	3428	876	31	1		1	CNTNAP2	7	147300239	Silent	SNP	C	C3N-00549_TP	6698359	147300239	12045734	188	16378											
CNTNAP2	0	.	GRCh38	chr7	148172281	148172281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcttcctgggctgcatccGctccttgaggatgaatgggg	5	10	16	10	1	0	2	0	2	0	0	3	3	3	3	3	5	1	4	3	5	1	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.2813G>T	p.Arg938Leu	p.R938L	ENST00000361727	18/24	375	176	199	386	386	0	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Arg938Leu,ENST00000361727,NM_014141.5;CNTNAP2,5_prime_UTR_variant,,ENST00000628930,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637020,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000627772,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000631199,;CNTNAP2,upstream_gene_variant,,ENST00000636988,;	T	ENST00000361727	Transcript	missense_variant	3331/9896	2813/3996	938/1331	R/L	cGc/cTc		1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	deleterious(0)		18/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs1048353998	.												T	3	4	51	148172281	148172281	G	T	1	0	0	0	0	1	0	0	0	3428	1087	38	1		1	CNTNAP2	7	148172281	Missense_Mutation	SNP	G	C3N-00549_TP	872042	148172281	11173692	189	16379											
GIMAP8	0	.	GRCh38	chr7	150467238	150467238	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtaaggatgagcagatcacCcaggtgttggagctccttcg	10	9	13	9	1	1	2	1	1	0	1	3	4	2	4	2	3	2	4	2	3	1	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.540C>A	p.=	p.T180T	ENST00000307271	2/5	252	181	71	275	275	0	strelka-varscan-mutect	GIMAP8,synonymous_variant,p.=,ENST00000307271,NM_175571.3;	A	ENST00000307271	Transcript	synonymous_variant	1114/4184	540/1998	180/665	T	acC/acA		1		1	GIMAP8	HGNC	HGNC:21792	protein_coding	YES	CCDS34777.1	ENSP00000305107	Q8ND71	A0A090N8H2	UPI0000168646	NM_175571.3			2/5		PROSITE_profiles:PS51720,hmmpanther:PTHR10903:SF73,hmmpanther:PTHR10903,Gene3D:3.40.50.300,Pfam_domain:PF04548,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	51	150467238	150467238	C	A	1	0	0	0	0	0	0	0	1	6265	610	22	2		2	GIMAP8	7	150467238	Silent	SNP	C	C3N-00549_TP	2294957	150467238	8878735	190	16380											
ABCB8	0	.	GRCh38	chr7	151035880	151035880	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttcctggactccttgcAgatcgccagggcaatgggcg	6	10	13	12	2	0	1	0	0	0	1	3	2	2	2	3	3	1	3	3	3	1	2	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.979-2A>T		p.X327_splice	ENST00000297504		244	123	121	166	166	0	strelka-varscan-mutect	ABCB8,splice_acceptor_variant,,ENST00000358849,NM_007188.4;ABCB8,splice_acceptor_variant,,ENST00000542328,NM_001282293.1;ABCB8,splice_acceptor_variant,,ENST00000297504,NM_001282291.1;ABCB8,splice_acceptor_variant,,ENST00000498578,NM_001282292.1;ABCB8,splice_acceptor_variant,,ENST00000477719,;ABCB8,splice_acceptor_variant,,ENST00000477092,;ABCB8,splice_acceptor_variant,,ENST00000491920,;ABCB8,downstream_gene_variant,,ENST00000461373,;ABCB8,downstream_gene_variant,,ENST00000493338,;ABCB8,downstream_gene_variant,,ENST00000488370,;ABCB8,downstream_gene_variant,,ENST00000466956,;ABCB8,downstream_gene_variant,,ENST00000488826,;ABCB8,downstream_gene_variant,,ENST00000471796,;ABCB8,downstream_gene_variant,,ENST00000472698,;ABCB8,downstream_gene_variant,,ENST00000469410,;ABCB8,splice_acceptor_variant,,ENST00000466514,;ABCB8,splice_acceptor_variant,,ENST00000482309,;ABCB8,3_prime_UTR_variant,,ENST00000470645,;ABCB8,upstream_gene_variant,,ENST00000482899,;ABCB8,downstream_gene_variant,,ENST00000489192,;ABCB8,downstream_gene_variant,,ENST00000462605,;ABCB8,downstream_gene_variant,,ENST00000488551,;	T	ENST00000297504	Transcript	splice_acceptor_variant	-/2487	979/2208	327/735				1		1	ABCB8	HGNC	HGNC:49	protein_coding	YES	CCDS64799.1	ENSP00000297504	Q9NUT2		UPI000013E41A	NM_001282291.1				7/16																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	51	151035880	151035880	A	T	1	0	0	0	0	0	0	1	0	51	202	7	4		4	ABCB8	7	151035880	Splice_Site	SNP	A	C3N-00549_TP	568642	151035880	8310093	191	16381											
SLC4A2	0	.	GRCh38	chr7	151071538	151071538	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgcacttgaccctcagtgCctggccgcagtcatcttcat	7	11	9	14	1	4	1	3	1	1	0	4	2	4	1	3	1	2	2	3	1	0	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.2124C>A	p.Cys708Ter	p.C708*	ENST00000485713	14/23	294	156	138	304	304	0	strelka-varscan-mutect	SLC4A2,stop_gained,p.Cys708Ter,ENST00000485713,NM_001199692.1;SLC4A2,stop_gained,p.Cys694Ter,ENST00000461735,NM_001199694.1;SLC4A2,stop_gained,p.Cys708Ter,ENST00000413384,NM_003040.3;SLC4A2,stop_gained,p.Cys699Ter,ENST00000392826,NM_001199693.1;RP11-148K1.12,downstream_gene_variant,,ENST00000485974,;SLC4A2,upstream_gene_variant,,ENST00000482697,;SLC4A2,non_coding_transcript_exon_variant,,ENST00000480107,;SLC4A2,non_coding_transcript_exon_variant,,ENST00000493040,;SLC4A2,upstream_gene_variant,,ENST00000472204,;SLC4A2,upstream_gene_variant,,ENST00000460010,;SLC4A2,downstream_gene_variant,,ENST00000494298,;SLC4A2,downstream_gene_variant,,ENST00000469355,;SLC4A2,upstream_gene_variant,,ENST00000469467,;	A	ENST00000485713	Transcript	stop_gained	3164/4925	2124/3726	708/1241	C/*	tgC/tgA		1		1	SLC4A2	HGNC	HGNC:11028	protein_coding	YES	CCDS5917.1	ENSP00000419412	P04920		UPI000013EFE9	NM_001199692.1			14/23		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF14,TIGRFAM_domain:TIGR00834,Gene3D:1bzkA00,Pfam_domain:PF00955,Prints_domain:PR00165																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	51	151071538	151071538	C	A	1	0	0	0	0	0	1	0	0	14931	747	26	2		2	SLC4A2	7	151071538	Nonsense_Mutation	SNP	C	C3N-00549_TP	35658	151071538	8274435	192	16382											
PRKAG2	0	.	GRCh38	chr7	151675463	151675463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgatgccagtggaggcCtggtcgggctctggaaggaa	7	8	18	8	2	1	1	0	1	1	0	3	4	1	4	2	7	1	1	2	7	2	0	rs781267213		C3N-00549_TP	C3N-00549_NB	C	C																c.641G>T	p.Arg214Met	p.R214M	ENST00000287878	4/16	309	151	158	344	344	0	strelka-varscan-mutect	PRKAG2,missense_variant,p.Arg214Met,ENST00000287878,NM_016203.3;PRKAG2,missense_variant,p.Arg90Met,ENST00000492843,NM_001304527.1;PRKAG2,missense_variant,p.Arg170Met,ENST00000392801,NM_001040633.1;PRKAG2,non_coding_transcript_exon_variant,,ENST00000487375,;PRKAG2,downstream_gene_variant,,ENST00000461529,;PRKAG2,missense_variant,p.Arg214Met,ENST00000488258,;PRKAG2,non_coding_transcript_exon_variant,,ENST00000481434,;	A	ENST00000287878	Transcript	missense_variant	1146/3305	641/1710	214/569	R/M	aGg/aTg	rs781267213	1		-1	PRKAG2	HGNC	HGNC:9386	protein_coding	YES	CCDS5928.1	ENSP00000287878	Q9UGJ0	A0A090N8Q6	UPI00001250B5	NM_016203.3	tolerated_low_confidence(0.06)		4/16		hmmpanther:PTHR13780,hmmpanther:PTHR13780:SF26																	MODERATE	1	SNV	1			1										PASS		rs781267213	.												A	3	1	51	151675463	151675463	C	A	1	0	0	0	0	1	0	0	0	12634	681	24	2		2	PRKAG2	7	151675463	Missense_Mutation	SNP	C	C3N-00549_TP	603925	151675463	7670510	193	16383											
HTR5A	0	.	GRCh38	chr7	155071028	155071028	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtcttcggagtgcttatTctcaccttgctgggctttct	3	17	10	11	2	3	0	1	0	3	0	6	1	3	1	1	3	2	3	1	3	1	5	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.129T>A	p.=	p.I43I	ENST00000287907	1/2	265	133	132	257	257	0	strelka-varscan-mutect	HTR5A,synonymous_variant,p.=,ENST00000287907,NM_024012.3;HTR5A-AS1,splice_region_variant,,ENST00000395731,;HTR5A-AS1,splice_region_variant,,ENST00000493904,;RP11-5C23.4,upstream_gene_variant,,ENST00000637588,;	A	ENST00000287907	Transcript	synonymous_variant	705/2912	129/1074	43/357	I	atT/atA		1		1	HTR5A	HGNC	HGNC:5300	protein_coding	YES	CCDS5936.1	ENSP00000287907	P47898	A4D2N2	UPI000004477E	NM_024012.3			1/2		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF108,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	51	155071028	155071028	T	A	1	0	0	0	0	0	0	0	1	7346	1771	62	4		4	HTR5A	7	155071028	Silent	SNP	T	C3N-00549_TP	3395565	155071028	4274945	194	16384											
DLGAP2	0	.	GRCh38	chr8	1549565	1549565	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacctgaagcgcagctcctGgtctacgctgacggtcagcc	7	8	12	14	3	2	2	1	2	1	0	3	2	3	2	3	2	5	4	3	2	3	2			C3N-00549_TP	C3N-00549_NB	G	G																c.872G>C	p.Trp291Ser	p.W291S	ENST00000612087	2/11	289	183	106	193	193	0	strelka-varscan-mutect	DLGAP2,missense_variant,p.Trp291Ser,ENST00000612087,NM_001277161.1;DLGAP2,missense_variant,p.Trp308Ser,ENST00000520901,;DLGAP2,missense_variant,p.Trp371Ser,ENST00000637795,;DLGAP2,missense_variant,p.Trp370Ser,ENST00000421627,;DLGAP2,missense_variant,p.Trp291Ser,ENST00000637152,NM_004745.4;	C	ENST00000612087	Transcript	missense_variant	1006/10088	872/2886	291/961	W/S	tGg/tCg	COSM3663666,COSM3663667	1		1	DLGAP2	HGNC	HGNC:2906	protein_coding	YES	CCDS75689.1	ENSP00000484215		H0YBY6	UPI0002B8CE71	NM_001277161.1	deleterious(0.02)		2/11		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												C	3	2	51	1549565	1549565	G	C	1	0	0	0	0	1	0	0	0	4367	1357	47	4		4	DLGAP2	8	1549565	Missense_Mutation	SNP	G	C3N-00549_TP		1549565	143589071	195	16385											
CSGALNACT1	0	.	GRCh38	chr8	19505228	19505228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaatcagaggccgtgtaagGacggtgattggggctgttct	9	10	16	6	2	2	2	1	1	1	1	2	4	2	3	1	5	0	3	1	5	2	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.607C>A	p.Pro203Thr	p.P203T	ENST00000454498	4/10	244	152	92	217	217	0	strelka-varscan-mutect	CSGALNACT1,missense_variant,p.Pro203Thr,ENST00000454498,NM_001130518.1;CSGALNACT1,missense_variant,p.Pro203Thr,ENST00000332246,NM_018371.4;CSGALNACT1,missense_variant,p.Pro203Thr,ENST00000522854,;CSGALNACT1,downstream_gene_variant,,ENST00000523262,;CSGALNACT1,downstream_gene_variant,,ENST00000517494,;CSGALNACT1,downstream_gene_variant,,ENST00000520003,;CSGALNACT1,downstream_gene_variant,,ENST00000524213,;CSGALNACT1,downstream_gene_variant,,ENST00000523227,;CSGALNACT1,downstream_gene_variant,,ENST00000517651,;CSGALNACT1,downstream_gene_variant,,ENST00000522573,;CSGALNACT1,downstream_gene_variant,,ENST00000522732,;CSGALNACT1,missense_variant,p.Pro203Thr,ENST00000397998,;CSGALNACT1,missense_variant,p.Pro203Thr,ENST00000519222,;	T	ENST00000454498	Transcript	missense_variant	1621/4232	607/1599	203/532	P/T	Cct/Act		1		-1	CSGALNACT1	HGNC	HGNC:24290	protein_coding	YES	CCDS6010.1	ENSP00000411816	Q8TDX6		UPI000013F19F	NM_001130518.1	tolerated(0.64)		4/10		hmmpanther:PTHR12369:SF19,hmmpanther:PTHR12369,Pfam_domain:PF05679																	MODERATE	1	SNV	1			1										PASS		rs1025904631	.												T	3	4	51	19505228	19505228	G	T	1	0	0	0	0	1	0	0	0	3739	1174	41	2		2	CSGALNACT1	8	19505228	Missense_Mutation	SNP	G	C3N-00549_TP	17955663	19505228	125633408	196	16386											
EGR3	0	.	GRCh38	chr8	22690639	22690639	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccgcagaactcgcaggcaAagggcttctcgcccgtatga	9	6	12	14	4	1	2	0	1	1	1	3	2	1	2	2	2	1	5	2	2	3	2	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.998T>A	p.Phe333Tyr	p.F333Y	ENST00000317216	2/2	210	124	86	139	139	0	strelka-varscan-mutect	EGR3,missense_variant,p.Phe333Tyr,ENST00000317216,NM_004430.2;EGR3,missense_variant,p.Phe295Tyr,ENST00000522910,NM_001199880.1;EGR3,3_prime_UTR_variant,,ENST00000519492,;RP11-459E5.1,intron_variant,,ENST00000523627,;EGR3,non_coding_transcript_exon_variant,,ENST00000524088,;EGR3,downstream_gene_variant,,ENST00000518773,;	T	ENST00000317216	Transcript	missense_variant	1356/4336	998/1164	333/387	F/Y	tTt/tAt		1		-1	EGR3	HGNC	HGNC:3240	protein_coding	YES	CCDS6033.1	ENSP00000318057	Q06889		UPI0000129E0F	NM_004430.2	deleterious(0)		2/2		PROSITE_profiles:PS50157,hmmpanther:PTHR24409,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	22690639	22690639	A	T	1	0	0	0	0	1	0	0	0	4809	14	1	4		4	EGR3	8	22690639	Missense_Mutation	SNP	A	C3N-00549_TP	3185411	22690639	122447997	197	16387											
ADGRA2	0	.	GRCh38	chr8	37797319	37797319	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccgcgcgcctgctgctGccgctgctgccgtggctcct	0	8	14	19	6	0	0	0	0	0	0	1	0	1	0	5	1	5	5	5	1	0	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.51G>T	p.=	p.L17L	ENST00000412232	1/19	29	11	18	28	28	0	strelka-varscan	ADGRA2,synonymous_variant,p.=,ENST00000315215,;ADGRA2,synonymous_variant,p.=,ENST00000412232,NM_032777.9;ADGRA2,intron_variant,,ENST00000428068,;	T	ENST00000412232	Transcript	synonymous_variant	64/5651	51/4017	17/1338	L	ctG/ctT		1		1	ADGRA2	HGNC	HGNC:17849	protein_coding	YES	CCDS6097.2	ENSP00000406367	Q96PE1		UPI00004AE50D	NM_032777.9			1/19		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	51	37797319	37797319	G	T	1	0	0	0	0	0	0	0	1	353	1306	46	2		2	ADGRA2	8	37797319	Silent	SNP	G	C3N-00549_TP	15106680	37797319	107341317	198	16388											
ANK1	0	.	GRCh38	chr8	41723144	41723144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttggttttggcttggattGgtgccccgtggtccagcagg	3	13	15	10	1	0	0	0	0	0	0	1	1	1	1	4	6	2	3	4	6	0	5			C3N-00549_TP	C3N-00549_NB	G	G																c.989C>A	p.Pro330Gln	p.P330Q	ENST00000265709	9/43	631	362	269	438	438	0	strelka-varscan	ANK1,missense_variant,p.Pro297Gln,ENST00000289734,NM_000037.3;ANK1,missense_variant,p.Pro297Gln,ENST00000347528,NM_020476.2,NM_020475.2,NM_020477.2;ANK1,missense_variant,p.Pro330Gln,ENST00000265709,NM_001142446.1;	T	ENST00000265709	Transcript	missense_variant	1271/6379	989/5694	330/1897	P/Q	cCa/cAa	COSM5433785,COSM5433786	1		-1	ANK1	HGNC	HGNC:492	protein_coding	YES	CCDS47849.1	ENSP00000265709	P16157		UPI0000E4453A	NM_001142446.1	deleterious(0.03)		9/43		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF20,SMART_domains:SM00248,Superfamily_domains:SSF48403											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	51	41723144	41723144	G	T	1	0	0	0	0	1	0	0	0	720	1348	47	2		2	ANK1	8	41723144	Missense_Mutation	SNP	G	C3N-00549_TP	3925825	41723144	103415492	199	16389											
PRKDC	0	.	GRCh38	chr8	47957182	47957182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcttaccttaatttcaaCagagtaaggtgcgatcttct	12	15	6	8	1	4	1	1	0	3	1	4	2	4	1	1	1	3	1	1	1	5	6	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.313G>A	p.Val105Ile	p.V105I	ENST00000314191	3/86	79	34	45	55	55	0	strelka-varscan	PRKDC,missense_variant,p.Val105Ile,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Val105Ile,ENST00000338368,NM_001081640.1;PRKDC,missense_variant,p.Val10Ile,ENST00000540819,;MCM4,upstream_gene_variant,,ENST00000262105,NM_005914.3;MCM4,upstream_gene_variant,,ENST00000523944,NM_182746.2;MCM4,upstream_gene_variant,,ENST00000519170,;MCM4,upstream_gene_variant,,ENST00000518221,;MCM4,upstream_gene_variant,,ENST00000519138,;MCM4,upstream_gene_variant,,ENST00000520934,;MCM4,upstream_gene_variant,,ENST00000524086,;MCM4,upstream_gene_variant,,ENST00000520994,;	T	ENST00000314191	Transcript	missense_variant	370/13509	313/12387	105/4128	V/I	Gtt/Att		1		-1	PRKDC	HGNC	HGNC:9413	protein_coding	YES	CCDS75735.1	ENSP00000313420	P78527		UPI0000013593	NM_006904.6	tolerated(0.11)		3/86		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF68,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	47957182	47957182	C	T	1	0	0	0	0	1	0	0	0	12654	478	17	3		3	PRKDC	8	47957182	Missense_Mutation	SNP	C	C3N-00549_TP	6234038	47957182	97181454	200	16390											
ATP6V1H	0	.	GRCh38	chr8	53772143	53772143	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atattcttggcgagtttctcTttcagttgatttttctaaaa	9	20	6	6	1	4	1	1	1	3	0	5	2	4	1	0	1	0	2	0	1	3	9	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.895A>C	p.=	p.R299R	ENST00000359530	10/14	165	101	64	151	151	0	strelka-varscan	ATP6V1H,synonymous_variant,p.=,ENST00000355221,NM_213619.2;ATP6V1H,synonymous_variant,p.=,ENST00000359530,NM_015941.3;ATP6V1H,synonymous_variant,p.=,ENST00000520188,;ATP6V1H,synonymous_variant,p.=,ENST00000396774,NM_213620.2;ATP6V1H,intron_variant,,ENST00000523426,;ATP6V1H,intron_variant,,ENST00000523343,;ATP6V1H,intron_variant,,ENST00000521900,;ATP6V1H,upstream_gene_variant,,ENST00000523899,;ATP6V1H,3_prime_UTR_variant,,ENST00000524164,;ATP6V1H,upstream_gene_variant,,ENST00000521707,;	G	ENST00000359530	Transcript	synonymous_variant	1159/2007	895/1452	299/483	R	Aga/Cga		1		-1	ATP6V1H	HGNC	HGNC:18303	protein_coding	YES	CCDS6153.1	ENSP00000352522	Q9UI12	A0A024R7U9	UPI0000000966	NM_015941.3			10/14		hmmpanther:PTHR10698,PIRSF_domain:PIRSF032184,Gene3D:1.25.10.10,Pfam_domain:PF03224,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	51	53772143	53772143	T	G	1	0	0	0	0	0	0	0	1	1342	1617	56	5		5	ATP6V1H	8	53772143	Silent	SNP	T	C3N-00549_TP	5814961	53772143	91366493	201	16391											
XKR4	0	.	GRCh38	chr8	55524032	55524032	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatccaccccatcatctcgCccaccacggattgaagaatc	11	7	5	18	2	2	2	1	1	1	1	5	3	3	3	6	1	0	0	6	1	2	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1758C>A	p.=	p.R586R	ENST00000327381	3/3	206	116	90	219	219	0	strelka-varscan	XKR4,synonymous_variant,p.=,ENST00000327381,NM_052898.1;XKR4,synonymous_variant,p.=,ENST00000622811,;RP11-628E19.2,upstream_gene_variant,,ENST00000522918,;XKR4,upstream_gene_variant,,ENST00000518261,;	A	ENST00000327381	Transcript	synonymous_variant	1858/19880	1758/1953	586/650	R	cgC/cgA		1		1	XKR4	HGNC	HGNC:29394	protein_coding	YES	CCDS34893.1	ENSP00000328326	Q5GH76		UPI000016098C	NM_052898.1			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF14																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	51	55524032	55524032	C	A	1	0	0	0	0	0	0	0	1	17992	726	26	2		2	XKR4	8	55524032	Silent	SNP	C	C3N-00549_TP	1751889	55524032	89614604	202	16392											
CHD7	0	.	GRCh38	chr8	60741469	60741469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatgagtctttttggcgagGatgggaatattttcagtgaa	10	15	13	3	1	2	3	1	3	1	0	2	6	2	5	0	3	0	0	0	3	3	5	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.37G>T	p.Asp13Tyr	p.D13Y	ENST00000423902	2/38	153	85	68	91	91	0	strelka-varscan	CHD7,missense_variant,p.Asp13Tyr,ENST00000423902,NM_017780.3;CHD7,missense_variant,p.Asp13Tyr,ENST00000525508,;CHD7,missense_variant,p.Asp13Tyr,ENST00000524602,;CHD7,missense_variant,p.Asp13Tyr,ENST00000526846,;CHD7,upstream_gene_variant,,ENST00000527825,;CHD7,upstream_gene_variant,,ENST00000527900,;	T	ENST00000423902	Transcript	missense_variant	516/11568	37/8994	13/2997	D/Y	Gat/Tat		1		1	CHD7	HGNC	HGNC:20626	protein_coding	YES	CCDS47865.1	ENSP00000392028	Q9P2D1		UPI0000251DA6	NM_017780.3	deleterious_low_confidence(0)		2/38																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	51	60741469	60741469	G	T	1	0	0	0	0	1	0	0	0	3089	1174	41	2		2	CHD7	8	60741469	Missense_Mutation	SNP	G	C3N-00549_TP	5217437	60741469	84397167	203	16393											
ZFHX4	0	.	GRCh38	chr8	76855531	76855531	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttctcttttctctcacaagCccatccatccatttcaatga	9	16	2	14	0	4	1	2	1	2	0	8	1	6	1	3	0	1	0	3	0	2	4			C3N-00549_TP	C3N-00549_NB	C	C																c.8610C>G	p.Ser2870Arg	p.S2870R	ENST00000521891	10/11	166	118	48	163	163	0	strelka-varscan	ZFHX4,missense_variant,p.Ser2870Arg,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Ser2844Arg,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	G	ENST00000521891	Transcript	missense_variant	9058/14019	8610/10851	2870/3616	S/R	agC/agG	COSM3651146,COSM3651147	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0)		10/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												G	3	3	51	76855531	76855531	C	G	1	0	0	0	0	1	0	0	0	18213	738	26	4		4	ZFHX4	8	76855531	Missense_Mutation	SNP	C	C3N-00549_TP	16114062	76855531	68283105	204	16394											
ZFHX4	0	.	GRCh38	chr8	76864513	76864513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgaaggctaagcctgcttCtggcctagatggtaatttca	10	12	11	8	0	2	2	1	1	1	1	2	2	2	2	2	3	2	3	2	3	4	5	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.10799C>T	p.Ser3600Phe	p.S3600F	ENST00000521891	11/11	90	49	41	77	77	0	strelka-varscan	ZFHX4,missense_variant,p.Ser3600Phe,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Ser3574Phe,ENST00000518282,;	T	ENST00000521891	Transcript	missense_variant	11247/14019	10799/10851	3600/3616	S/F	tCt/tTt		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious_low_confidence(0.02)		11/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	51	76864513	76864513	C	T	1	0	0	0	0	1	0	0	0	18213	913	32	3		3	ZFHX4	8	76864513	Missense_Mutation	SNP	C	C3N-00549_TP	8982	76864513	68274123	205	16395											
DCAF4L2	0	.	GRCh38	chr8	87873015	87873015	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttcgttcacatgcacGggtaggtaggcggagttatt	7	14	12	8	3	3	0	1	0	2	0	4	1	3	1	0	4	1	5	0	4	3	7	rs143361209		C3N-00549_TP	C3N-00549_NB	G	G																c.957C>A	p.=	p.P319P	ENST00000319675	1/1	222	130	92	180	180	0	strelka-varscan	DCAF4L2,synonymous_variant,p.=,ENST00000319675,NM_152418.3;CTB-118P15.3,downstream_gene_variant,,ENST00000613582,;	T	ENST00000319675	Transcript	synonymous_variant	1054/3326	957/1188	319/395	P	ccC/ccA	rs143361209	1		-1	DCAF4L2	HGNC	HGNC:26657	protein_coding	YES	CCDS6245.1	ENSP00000316496	Q8NA75		UPI0000072860	NM_152418.3			1/1		PROSITE_profiles:PS50294,hmmpanther:PTHR22847:SF457,hmmpanther:PTHR22847,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV				1										PASS		.	.												T	2	4	51	87873015	87873015	G	T	1	0	0	0	0	0	0	0	1	4073	1103	39	1		1	DCAF4L2	8	87873015	Silent	SNP	G	C3N-00549_TP	11008502	87873015	57265621	206	16396											
CSMD3	0	.	GRCh38	chr8	112517167	112517167	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccccaggttctcttccatcCccatttcgagtcccattcat	6	14	4	17	1	2	0	1	0	1	0	8	1	6	0	6	1	0	1	6	1	0	4			C3N-00549_TP	C3N-00549_NB	C	C																c.4623G>T	p.=	p.G1541G	ENST00000297405	28/71	264	154	110	229	229	0	strelka-varscan	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000455883,NM_052900.2;CSMD3,synonymous_variant,p.=,ENST00000339701,;	A	ENST00000297405	Transcript	synonymous_variant	4868/13212	4623/11124	1541/3707	G	ggG/ggT	COSM5514212,COSM5514213	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			28/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	51	112517167	112517167	C	A	1	0	0	0	0	0	0	0	1	3747	610	22	2		2	CSMD3	8	112517167	Silent	SNP	C	C3N-00549_TP	24644152	112517167	32621469	207	16397											
CSMD3	0	.	GRCh38	chr8	113019128	113019128	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaacaaaatgcagtctGagccagtttttgttgctgat	10	15	9	7	0	2	2	0	2	2	0	2	2	2	2	1	0	4	5	1	0	3	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.969C>A	p.=	p.L323L	ENST00000297405	6/71	274	159	115	260	259	1	strelka-varscan	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000455883,NM_052900.2;CSMD3,non_coding_transcript_exon_variant,,ENST00000497026,;	T	ENST00000297405	Transcript	synonymous_variant	1214/13212	969/11124	323/3707	L	ctC/ctA		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			6/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	51	113019128	113019128	G	T	1	0	0	0	0	0	0	0	1	3747	1277	45	2		2	CSMD3	8	113019128	Silent	SNP	G	C3N-00549_TP	501961	113019128	32119508	208	16398											
COL22A1	0	.	GRCh38	chr8	138690875	138690875	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacatgtccgggagcaccCtgttcagagacagaagttta	11	8	11	11	2	1	2	1	0	0	2	2	5	2	3	3	1	1	3	3	1	2	3			C3N-00549_TP	C3N-00549_NB	C	C																c.2755-1G>T		p.X919_splice	ENST00000303045		61	38	23	59	59	0	strelka-varscan	COL22A1,splice_acceptor_variant,,ENST00000303045,NM_152888.2;COL22A1,splice_acceptor_variant,,ENST00000435777,;COL22A1,splice_acceptor_variant,,ENST00000341807,;	A	ENST00000303045	Transcript	splice_acceptor_variant	-/6346	2755/4881	919/1626			COSM3645638	1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2				35/64												1						HIGH	1	SNV	1		1	1										PASS		.	.												A	5	1	51	138690875	138690875	C	A	1	0	0	0	0	0	0	1	0	3469	695	24	2		2	COL22A1	8	138690875	Splice_Site	SNP	C	C3N-00549_TP	25671747	138690875	6447761	209	16399											
CCDC166	0	.	GRCh38	chr8	143707106	143707106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgggaggccgcgcgcgacGggcttatgggggcggctaat	5	7	19	10	6	1	0	0	0	1	0	1	2	1	1	1	6	0	2	1	6	2	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.908C>T	p.Pro303Leu	p.P303L	ENST00000542437	2/2	89	51	38	75	75	0	strelka-varscan	CCDC166,missense_variant,p.Pro303Leu,ENST00000542437,NM_001162914.1;RP11-429J17.4,downstream_gene_variant,,ENST00000527579,;ZNF707,intron_variant,,ENST00000527561,;ZNF707,upstream_gene_variant,,ENST00000508587,;	A	ENST00000542437	Transcript	missense_variant	908/1320	908/1320	303/439	P/L	cCg/cTg		1		-1	CCDC166	HGNC	HGNC:41910	protein_coding	YES	CCDS55280.1	ENSP00000437468	P0CW27		UPI00016623E2	NM_001162914.1	tolerated(0.15)		2/2		hmmpanther:PTHR14845,hmmpanther:PTHR14845:SF4																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	51	143707106	143707106	G	A	1	0	0	0	0	1	0	0	0	2482	1116	39	1		1	CCDC166	8	143707106	Missense_Mutation	SNP	G	C3N-00549_TP	5016231	143707106	1431530	210	16400											
CCDC171	0	.	GRCh38	chr9	15594093	15594093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagatggagtctcatatcaGggagacagcattggaggagt	12	9	15	5	0	2	2	2	1	1	2	3	7	2	5	0	4	1	1	0	4	1	2	rs752038797		C3N-00549_TP	C3N-00549_NB	G	G																c.596G>T	p.Arg199Met	p.R199M	ENST00000380701	6/26	82	30	52	187	185	2	strelka-varscan-mutect	CCDC171,missense_variant,p.Arg199Met,ENST00000380701,NM_173550.2;CCDC171,missense_variant,p.Arg199Met,ENST00000535968,;	T	ENST00000380701	Transcript	missense_variant	924/6512	596/3981	199/1326	R/M	aGg/aTg	rs752038797	1		1	CCDC171	HGNC	HGNC:29828	protein_coding	YES	CCDS6481.1	ENSP00000370077	Q6TFL3		UPI000021C44B	NM_173550.2	tolerated_low_confidence(0.06)		6/26		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF388																	MODERATE	1	SNV	1			1										PASS		rs752038797	.												T	3	4	51	15594093	15594093	G	T	1	0	0	0	0	1	0	0	0	2488	1000	35	2		2	CCDC171	9	15594093	Missense_Mutation	SNP	G	C3N-00549_TP		15594093	122800624	211	16401											
FRMPD1	0	.	GRCh38	chr9	37740240	37740240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacctgaggtggctaggaGgggccccagcacctgcgggg	7	4	17	13	1	0	1	0	1	0	0	0	2	0	2	4	7	2	2	4	7	1	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1712G>A	p.Arg571Lys	p.R571K	ENST00000539465	15/16	148	47	101	196	196	0	strelka-varscan-mutect	FRMPD1,missense_variant,p.Arg571Lys,ENST00000539465,;FRMPD1,missense_variant,p.Arg571Lys,ENST00000377765,NM_014907.2;RP11-613M10.9,intron_variant,,ENST00000540557,;	A	ENST00000539465	Transcript	missense_variant	2305/5465	1712/4737	571/1578	R/K	aGg/aAg		1		1	FRMPD1	HGNC	HGNC:29159	protein_coding	YES	CCDS6612.1	ENSP00000444411	Q5SYB0		UPI000013D2CC		tolerated(0.57)		15/16																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	37740240	37740240	G	A	1	0	0	0	0	1	0	0	0	5927	1000	35	3		3	FRMPD1	9	37740240	Missense_Mutation	SNP	G	C3N-00549_TP	22146147	37740240	100654477	212	16402											
SPATA31A1	0	.	GRCh38	chr9	39360313	39360313	+	Missense_Mutation	SNP	G	G	C																															cctcagccacctgtgaatctGgggctggctcagaagttgag																								novel		C3N-00549_TP	C3N-00549_NB	G	G																c.2590G>C	p.Gly864Arg	p.G864R	ENST00000377647	4/4	68	54	14	86	86	0	strelka-varscan-mutect	SPATA31A1,missense_variant,p.Gly864Arg,ENST00000377647,NM_001085452.2;RP11-347J14.4,non_coding_transcript_exon_variant,,ENST00000615174,;SPATA31A1,downstream_gene_variant,,ENST00000473440,;	C	ENST00000377647	Transcript	missense_variant	2610/4256	2590/4086	864/1361	G/R	Ggg/Cgg		1		1	SPATA31A1	HGNC	HGNC:23394	protein_coding	YES	CCDS43808.2	ENSP00000366875		A0A0R4J2F1	UPI0001AE6DFD	NM_001085452.2	tolerated(0.81)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	51	39360313	39360313	G	C	1	0	0	0	0	1	0	0	0	15343	1348	47	4		4	SPATA31A1	9	39360313	Missense_Mutation	SNP	G	C3N-00549_TP	1620073	39360313	99034404	213	16403	354	2									
SPATA31A1	0	.	GRCh38	chr9	39360314	39360314	+	Missense_Mutation	SNP	G	G	T																															ctcagccacctgtgaatctgGggctggctcagaagttgagg																								novel		C3N-00549_TP	C3N-00549_NB	G	G																c.2591G>T	p.Gly864Val	p.G864V	ENST00000377647	4/4	67	53	14	85	85	0	strelka-varscan-mutect	SPATA31A1,missense_variant,p.Gly864Val,ENST00000377647,NM_001085452.2;RP11-347J14.4,non_coding_transcript_exon_variant,,ENST00000615174,;SPATA31A1,downstream_gene_variant,,ENST00000473440,;	T	ENST00000377647	Transcript	missense_variant	2611/4256	2591/4086	864/1361	G/V	gGg/gTg		1		1	SPATA31A1	HGNC	HGNC:23394	protein_coding	YES	CCDS43808.2	ENSP00000366875		A0A0R4J2F1	UPI0001AE6DFD	NM_001085452.2	tolerated(0.09)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	39360314	39360314	G	T	1	0	0	0	0	1	0	0	0	15343	1232	43	2		2	SPATA31A1	9	39360314	Missense_Mutation	SNP	G	C3N-00549_TP	1	39360314	99034403	214	16404	354	2									
PSAT1	0	.	GRCh38	chr9	78317701	78317701	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgtcatgggcttggttctgGagtggattaaaaacaatgga	12	11	13	5	1	2	0	1	0	1	0	2	3	2	3	0	5	1	2	0	5	4	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.766G>T	p.Glu256Ter	p.E256*	ENST00000376588	7/9	315	98	217	422	422	0	strelka-varscan-mutect	PSAT1,stop_gained,p.Glu256Ter,ENST00000376588,NM_058179.3;PSAT1,stop_gained,p.Glu256Ter,ENST00000347159,NM_021154.4;	T	ENST00000376588	Transcript	stop_gained	834/2188	766/1113	256/370	E/*	Gag/Tag		1		1	PSAT1	HGNC	HGNC:19129	protein_coding	YES	CCDS6660.1	ENSP00000365773	Q9Y617	A0A024R222	UPI0000001C03	NM_058179.3			7/9		HAMAP:MF_00160,hmmpanther:PTHR21152:SF17,hmmpanther:PTHR21152,Pfam_domain:PF00266,PIRSF_domain:PIRSF000525,Gene3D:3.40.640.10,TIGRFAM_domain:TIGR01364,Superfamily_domains:SSF53383																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	51	78317701	78317701	G	T	1	0	0	0	0	0	1	0	0	12795	1175	41	2		2	PSAT1	9	78317701	Nonsense_Mutation	SNP	G	C3N-00549_TP	38957387	78317701	60077016	215	16405											
SEMA4D	0	.	GRCh38	chr9	89363777	89363777	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgcaccttcgaagtctTgttccctgctgaggagagga	9	10	11	11	1	1	2	0	1	1	1	3	5	2	3	3	2	3	3	3	2	2	3	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.2056A>T	p.Lys686Ter	p.K686*	ENST00000420987	18/20	208	58	150	242	242	0	strelka-varscan-mutect	SEMA4D,stop_gained,p.Lys686Ter,ENST00000420987,NM_001142287.1;SEMA4D,stop_gained,p.Lys686Ter,ENST00000339861,;SEMA4D,stop_gained,p.Lys686Ter,ENST00000455551,;SEMA4D,stop_gained,p.Lys71Ter,ENST00000420101,;SECISBP2,downstream_gene_variant,,ENST00000534113,NM_001282690.1;SECISBP2,downstream_gene_variant,,ENST00000375807,NM_001282688.1,NM_024077.4;SECISBP2,downstream_gene_variant,,ENST00000339901,NM_001282689.1;SEMA4D,non_coding_transcript_exon_variant,,ENST00000469653,;SEMA4D,non_coding_transcript_exon_variant,,ENST00000475255,;SEMA4D,synonymous_variant,p.=,ENST00000429836,;SEMA4D,synonymous_variant,p.=,ENST00000537934,;SEMA4D,non_coding_transcript_exon_variant,,ENST00000492386,;	A	ENST00000420987	Transcript	stop_gained	2503/4275	2056/2217	686/738	K/*	Aag/Tag		1		-1	SEMA4D	HGNC	HGNC:10732	protein_coding		CCDS47991.1	ENSP00000391733	Q92854		UPI000185BDB1	NM_001142287.1			18/20		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	HIGH		SNV	5			1										PASS		rs1331625192	.												A	4	1	51	89363777	89363777	T	A	1	0	0	0	0	0	1	0	0	14310	1821	63	4		4	SEMA4D	9	89363777	Nonsense_Mutation	SNP	T	C3N-00549_TP	11046076	89363777	49030940	216	16406											
ZNF169	0	.	GRCh38	chr9	94300962	94300962	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgtgggcgtggctttggTcagaaggtcaccctcatcag	7	11	14	9	1	4	1	4	0	0	1	4	2	4	1	1	4	0	1	1	4	1	2	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.1404T>C	p.=	p.G468G	ENST00000395395	5/5	169	160	9	209	208	1	varscan-mutect	ZNF169,synonymous_variant,p.=,ENST00000395395,NM_003448.2,NM_194320.3,NM_001301275.1;ZNF169,3_prime_UTR_variant,,ENST00000340911,;	C	ENST00000395395	Transcript	synonymous_variant	1494/1986	1404/1812	468/603	G	ggT/ggC		1		1	ZNF169	HGNC	HGNC:12957	protein_coding	YES	CCDS6709.2	ENSP00000378792	Q14929		UPI00001C1EC1	NM_003448.2,NM_194320.3,NM_001301275.1			5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF25,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	2			1										PASS		rs1471781189	.												C	2	2	51	94300962	94300962	T	C	1	0	0	0	0	0	0	0	1	18322	1654	58	5		5	ZNF169	9	94300962	Silent	SNP	T	C3N-00549_TP	4937185	94300962	44093755	217	16407											
OR13C8	0	.	GRCh38	chr9	104569532	104569532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcacgatggcactggaccGctatgtggccatctgctacc	8	8	12	13	2	1	0	0	0	1	0	1	2	1	1	3	4	2	4	3	4	2	2			C3N-00549_TP	C3N-00549_NB	G	G																c.365G>T	p.Arg122Leu	p.R122L	ENST00000335040	1/1	128	35	93	180	180	0	strelka-varscan-mutect	OR13C8,missense_variant,p.Arg122Leu,ENST00000335040,NM_001004483.1;	T	ENST00000335040	Transcript	missense_variant	365/963	365/963	122/320	R/L	cGc/cTc	COSM4709657	1		1	OR13C8	HGNC	HGNC:15103	protein_coding	YES	CCDS35090.1	ENSP00000334068	Q8NGS7	A0A126GVC7	UPI000004B203	NM_001004483.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF87,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE	1	SNV			1	1										PASS		rs1323175968	.												T	3	4	51	104569532	104569532	G	T	1	0	0	0	0	1	0	0	0	11014	1087	38	1		1	OR13C8	9	104569532	Missense_Mutation	SNP	G	C3N-00549_TP	10268570	104569532	33825185	218	16408											
TLR4	0	.	GRCh38	chr9	117714175	117714175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgttatctactcaagcCaggatgaggactgggtaagg	10	11	12	8	0	2	1	1	1	1	0	2	3	2	3	2	4	2	2	2	4	4	4	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.2047C>A	p.Gln683Lys	p.Q683K	ENST00000355622	3/3	98	35	63	126	126	0	strelka-varscan-mutect	TLR4,missense_variant,p.Gln683Lys,ENST00000355622,NM_138554.4;TLR4,missense_variant,p.Gln643Lys,ENST00000394487,NM_003266.3;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;	A	ENST00000355622	Transcript	missense_variant	2148/4844	2047/2520	683/839	Q/K	Cag/Aag		1		1	TLR4	HGNC	HGNC:11850	protein_coding	YES	CCDS6818.1	ENSP00000363089	O00206		UPI0000137057	NM_138554.4	tolerated(0.8)		3/3		PROSITE_profiles:PS50104,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,Gene3D:3.40.50.10140,Pfam_domain:PF01582,SMART_domains:SM00255,Superfamily_domains:SSF52200																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	117714175	117714175	C	A	1	0	0	0	0	1	0	0	0	16399	595	21	2		2	TLR4	9	117714175	Missense_Mutation	SNP	C	C3N-00549_TP	13144643	117714175	20680542	219	16409											
CDK5RAP2	0	.	GRCh38	chr9	120439927	120439927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcttcaggattttctttgCatgatggcaagctggcaagg	9	13	11	8	0	3	1	1	1	2	0	3	2	3	2	0	4	2	4	0	4	2	4	rs777420257		C3N-00549_TP	C3N-00549_NB	C	C																c.3194G>T	p.Cys1065Phe	p.C1065F	ENST00000349780	24/38	170	63	107	195	195	0	strelka-varscan-mutect	CDK5RAP2,missense_variant,p.Cys1065Phe,ENST00000349780,NM_018249.5;CDK5RAP2,missense_variant,p.Cys1065Phe,ENST00000360190,NM_001011649.2;CDK5RAP2,missense_variant,p.Cys835Phe,ENST00000360822,NM_001272039.1;CDK5RAP2,missense_variant,p.Cys459Phe,ENST00000416449,;CDK5RAP2,missense_variant,p.Cys75Phe,ENST00000425647,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000479584,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000468989,;CDK5RAP2,3_prime_UTR_variant,,ENST00000473282,;CDK5RAP2,3_prime_UTR_variant,,ENST00000480112,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000483412,;	A	ENST00000349780	Transcript	missense_variant	3374/6228	3194/5682	1065/1893	C/F	tGc/tTc	rs777420257	1		-1	CDK5RAP2	HGNC	HGNC:18672	protein_coding	YES	CCDS6823.1	ENSP00000343818	Q96SN8		UPI0000367673	NM_018249.5	tolerated(0.25)		24/38																			MODERATE	1	SNV	1			1										PASS		rs777420257	.												A	3	1	51	120439927	120439927	C	A	1	0	0	0	0	1	0	0	0	2850	710	25	2		2	CDK5RAP2	9	120439927	Missense_Mutation	SNP	C	C3N-00549_TP	2725752	120439927	17954790	220	16410											
OR1Q1	0	.	GRCh38	chr9	122614917	122614917	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcctccacatccccatgtaCatcttcctcagtaacttggc	8	11	5	17	1	2	0	1	0	1	0	5	0	5	0	5	1	2	2	5	1	2	4	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.180C>A	p.Tyr60Ter	p.Y60*	ENST00000297913	1/1	104	42	62	154	154	0	strelka-varscan-mutect	OR1Q1,stop_gained,p.Tyr60Ter,ENST00000297913,NM_012364.1;RP11-64P14.7,intron_variant,,ENST00000431442,;RP11-64P14.7,upstream_gene_variant,,ENST00000419604,;	A	ENST00000297913	Transcript	stop_gained	180/945	180/945	60/314	Y/*	taC/taA		1		1	OR1Q1	HGNC	HGNC:8223	protein_coding	YES	CCDS35125.1	ENSP00000297913	Q15612		UPI000003CACD	NM_012364.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF92,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	HIGH		SNV				1										PASS		rs1161745970	.												A	4	1	51	122614917	122614917	C	A	1	0	0	0	0	0	1	0	0	11049	489	17	2		2	OR1Q1	9	122614917	Nonsense_Mutation	SNP	C	C3N-00549_TP	2174990	122614917	15779800	221	16411											
GOLGA2	0	.	GRCh38	chr9	128260598	128260598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcgcgcctccgcctgctccCcccagagctcggccgcccgc	2	5	11	23	6	0	1	0	0	0	1	3	1	2	1	8	1	3	2	8	1	0	0	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1544G>T	p.Gly515Val	p.G515V	ENST00000421699	17/26	339	215	124	231	230	1	strelka-varscan-mutect	GOLGA2,missense_variant,p.Gly515Val,ENST00000421699,NM_004486.4;GOLGA2,missense_variant,p.Gly515Val,ENST00000611957,;GOLGA2,missense_variant,p.Gly503Val,ENST00000609374,;GOLGA2,intron_variant,,ENST00000610329,;GOLGA2,downstream_gene_variant,,ENST00000450617,;GOLGA2,downstream_gene_variant,,ENST00000458730,;GOLGA2,non_coding_transcript_exon_variant,,ENST00000486411,;GOLGA2,downstream_gene_variant,,ENST00000490257,;GOLGA2,upstream_gene_variant,,ENST00000462089,;GOLGA2,downstream_gene_variant,,ENST00000470630,;GOLGA2,downstream_gene_variant,,ENST00000468488,;GOLGA2,downstream_gene_variant,,ENST00000461031,;GOLGA2,upstream_gene_variant,,ENST00000496221,;	A	ENST00000421699	Transcript	missense_variant	1557/4260	1544/3009	515/1002	G/V	gGg/gTg		1		-1	GOLGA2	HGNC	HGNC:4425	protein_coding	YES	CCDS6896.2	ENSP00000416097	Q08379		UPI0000D4C11A	NM_004486.4	tolerated(0.26)		17/26		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15070,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF45																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	128260598	128260598	C	A	1	0	0	0	0	1	0	0	0	6431	623	22	2		2	GOLGA2	9	128260598	Missense_Mutation	SNP	C	C3N-00549_TP	5645681	128260598	10134119	222	16412											
ZER1	0	.	GRCh38	chr9	128755518	128755518	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatccaggttgcgcaagcaGaagtcagtacagagggccat	12	6	12	11	1	1	2	1	0	0	2	2	2	2	2	3	2	3	4	3	2	3	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.48C>T	p.=	p.F16F	ENST00000291900	2/16	301	188	113	242	242	0	strelka-varscan-mutect	ZER1,synonymous_variant,p.=,ENST00000291900,NM_006336.3;ZER1,synonymous_variant,p.=,ENST00000414921,;ZER1,synonymous_variant,p.=,ENST00000427848,;ZER1,intron_variant,,ENST00000494461,;	A	ENST00000291900	Transcript	synonymous_variant	455/4259	48/2301	16/766	F	ttC/ttT		1		-1	ZER1	HGNC	HGNC:30960	protein_coding	YES	CCDS6910.1	ENSP00000291900	Q7Z7L7	A0A024R8B0	UPI000013E085	NM_006336.3			2/16		hmmpanther:PTHR12904,hmmpanther:PTHR12904:SF23																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	51	128755518	128755518	G	A	1	0	0	0	0	0	0	0	1	18201	933	33	3		3	ZER1	9	128755518	Silent	SNP	G	C3N-00549_TP	494920	128755518	9639199	223	16413											
COL5A1	0	.	GRCh38	chr9	134690947	134690947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaaggttctagattttCacaacttgcctgatggaata	11	14	8	8	0	2	3	1	2	1	1	3	4	3	4	2	2	2	1	2	2	5	6	rs372168541		C3N-00549_TP	C3N-00549_NB	C	C																c.145C>A	p.His49Asn	p.H49N	ENST00000371817	2/66	375	116	259	499	498	1	strelka-varscan-mutect	COL5A1,missense_variant,p.His49Asn,ENST00000371817,NM_000093.4;COL5A1,missense_variant,p.His49Asn,ENST00000618395,NM_001278074.1;COL5A1,non_coding_transcript_exon_variant,,ENST00000464187,;	A	ENST00000371817	Transcript	missense_variant	559/8471	145/5517	49/1838	H/N	Cac/Aac	rs372168541	1		1	COL5A1	HGNC	HGNC:2209	protein_coding	YES	CCDS6982.1	ENSP00000360882	P20908	A0A024R8E5	UPI0000210EE3	NM_000093.4	tolerated(0.7)		2/66		SMART_domains:SM00210,Superfamily_domains:SSF49899										uncertain_significance							MODERATE	1	SNV	1		1	1										PASS		rs372168541	.												A	3	1	51	134690947	134690947	C	A	1	0	0	0	0	1	0	0	0	3485	826	29	2		2	COL5A1	9	134690947	Missense_Mutation	SNP	C	C3N-00549_TP	5935429	134690947	3703770	224	16414											
GLT6D1	0	.	GRCh38	chr9	135624231	135624231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattatggggtgtgccacCaaccatcaagttgccataat	13	11	8	9	0	1	0	1	0	0	0	1	0	1	0	4	2	3	1	4	2	6	4	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.697G>C	p.Gly233Arg	p.G233R	ENST00000371763	5/5	62	17	45	54	54	0	strelka-varscan-mutect	GLT6D1,missense_variant,p.Gly233Arg,ENST00000371763,NM_182974.2;GLT6D1,missense_variant,p.Gly233Arg,ENST00000613244,;	G	ENST00000371763	Transcript	missense_variant	951/1526	697/831	233/276	G/R	Ggt/Cgt		1		-1	GLT6D1	HGNC	HGNC:23671	protein_coding	YES	CCDS43900.1	ENSP00000360829	Q7Z4J2		UPI0000246F68	NM_182974.2	deleterious(0)		5/5		hmmpanther:PTHR10462:SF27,hmmpanther:PTHR10462,Gene3D:3.90.550.10,Pfam_domain:PF03414,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	51	135624231	135624231	C	G	1	0	0	0	0	1	0	0	0	6345	594	21	4		4	GLT6D1	9	135624231	Missense_Mutation	SNP	C	C3N-00549_TP	933284	135624231	2770486	225	16415											
GRIN1	0	.	GRCh38	chr9	137142064	137142064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccccaacgaccacttcactCccacccctgtctcctacaca	9	7	2	23	1	2	0	1	0	1	0	4	1	3	0	7	0	2	0	7	0	2	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.310C>A	p.Pro104Thr	p.P104T	ENST00000371553	2/21	383	119	264	445	444	1	strelka-varscan-mutect	GRIN1,missense_variant,p.Pro104Thr,ENST00000371561,NM_007327.3;GRIN1,missense_variant,p.Pro104Thr,ENST00000371546,;GRIN1,missense_variant,p.Pro104Thr,ENST00000371555,;GRIN1,missense_variant,p.Pro104Thr,ENST00000371550,NM_021569.3;GRIN1,missense_variant,p.Pro104Thr,ENST00000371553,NM_001185090.1;GRIN1,missense_variant,p.Pro104Thr,ENST00000371560,NM_001185091.1;GRIN1,missense_variant,p.Pro104Thr,ENST00000371559,NM_000832.6;GRIN1,missense_variant,p.Pro104Thr,ENST00000350902,;GRIN1,non_coding_transcript_exon_variant,,ENST00000471122,;	A	ENST00000371553	Transcript	missense_variant	316/3751	310/2832	104/943	P/T	Ccc/Acc		1		1	GRIN1	HGNC	HGNC:4584	protein_coding	YES	CCDS55354.1	ENSP00000360608	Q05586		UPI000014AF8E	NM_001185090.1	deleterious(0.03)		2/21		hmmpanther:PTHR18966:SF214,hmmpanther:PTHR18966,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	137142064	137142064	C	A	1	0	0	0	0	1	0	0	0	6660	855	30	2		2	GRIN1	9	137142064	Missense_Mutation	SNP	C	C3N-00549_TP	1517833	137142064	1252653	226	16416											
NSMF	0	.	GRCh38	chr9	137450009	137450009	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttgctcatcaggcggcTcagccgcttccagaagctgg	7	9	11	14	2	3	1	3	0	0	1	4	1	4	1	2	3	3	4	2	3	1	2	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.1333A>T	p.Ser445Cys	p.S445C	ENST00000371475	14/16	205	54	151	267	267	0	strelka-varscan-mutect	NSMF,missense_variant,p.Ser445Cys,ENST00000371475,NM_001130969.1;NSMF,missense_variant,p.Ser443Cys,ENST00000265663,NM_015537.4;NSMF,missense_variant,p.Ser422Cys,ENST00000437259,NM_001130970.1;NSMF,missense_variant,p.Ser420Cys,ENST00000371474,NM_001130971.1;NSMF,missense_variant,p.Ser415Cys,ENST00000371473,NM_001178064.1;NSMF,missense_variant,p.Ser278Cys,ENST00000339554,;NSMF,missense_variant,p.Ser443Cys,ENST00000371472,;NSMF,missense_variant,p.Ser160Cys,ENST00000482448,;NSMF,downstream_gene_variant,,ENST00000611474,;NSMF,non_coding_transcript_exon_variant,,ENST00000371482,;NSMF,non_coding_transcript_exon_variant,,ENST00000484316,;NSMF,downstream_gene_variant,,ENST00000371468,;	A	ENST00000371475	Transcript	missense_variant	1565/3646	1333/1593	445/530	S/C	Agc/Tgc		1		-1	NSMF	HGNC	HGNC:29843	protein_coding	YES	CCDS48069.1	ENSP00000360530	Q6X4W1		UPI000035198D	NM_001130969.1	deleterious(0.01)		14/16		hmmpanther:PTHR32061																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	137450009	137450009	T	A	1	0	0	0	0	1	0	0	0	10739	1551	54	4		4	NSMF	9	137450009	Missense_Mutation	SNP	T	C3N-00549_TP	307945	137450009	944708	227	16417											
ITGA8	0	.	GRCh38	chr10	15605792	15605792	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccaccagaatgtgagcCtgtgttgtataaacgcacgt	11	10	10	10	2	0	2	0	1	0	1	1	2	1	2	3	0	2	3	3	0	4	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1903-1G>T		p.X635_splice	ENST00000378076		146	109	37	159	159	0	strelka-varscan-mutect	ITGA8,splice_acceptor_variant,,ENST00000378076,NM_003638.2,NM_001291494.1;ITGA8,upstream_gene_variant,,ENST00000477064,;	A	ENST00000378076	Transcript	splice_acceptor_variant	-/6755	1903/3192	635/1063				1		-1	ITGA8	HGNC	HGNC:6144	protein_coding	YES	CCDS31155.1	ENSP00000367316	P53708		UPI00001D80A0	NM_003638.2,NM_001291494.1				18/29																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	51	15605792	15605792	C	A	1	0	0	0	0	0	0	1	0	7789	695	24	2		2	ITGA8	10	15605792	Splice_Site	SNP	C	C3N-00549_TP		15605792	118191630	228	16418											
ITGA8	0	.	GRCh38	chr10	15678738	15678738	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttataaaaatccagaCtaaatcctgcttggcagtaa	15	11	5	10	0	1	1	1	0	0	1	3	1	3	1	3	1	1	3	3	1	7	5	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.614G>T	p.Ser205Ile	p.S205I	ENST00000378076	5/30	143	114	29	172	172	0	strelka-varscan-mutect	ITGA8,missense_variant,p.Ser205Ile,ENST00000378076,NM_003638.2,NM_001291494.1;	A	ENST00000378076	Transcript	missense_variant	968/6755	614/3192	205/1063	S/I	aGt/aTt		1		-1	ITGA8	HGNC	HGNC:6144	protein_coding	YES	CCDS31155.1	ENSP00000367316	P53708		UPI00001D80A0	NM_003638.2,NM_001291494.1	deleterious(0)		5/30		Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,SMART_domains:SM00191,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	15678738	15678738	C	A	1	0	0	0	0	1	0	0	0	7789	565	20	2		2	ITGA8	10	15678738	Missense_Mutation	SNP	C	C3N-00549_TP	72946	15678738	118118684	229	16419											
NSUN6	0	.	GRCh38	chr10	18548229	18548229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccctctggcttcagcagCtgaaccgcctaaagaaaact	13	7	7	14	1	2	2	1	1	1	1	2	2	2	2	3	1	4	3	3	1	5	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1080G>T	p.Gln360His	p.Q360H	ENST00000377304	10/11	108	78	30	127	127	0	strelka-varscan-mutect	NSUN6,missense_variant,p.Gln360His,ENST00000377304,NM_182543.3;RP11-499P20.2,upstream_gene_variant,,ENST00000425669,;RP11-499P20.2,upstream_gene_variant,,ENST00000436485,;NSUN6,non_coding_transcript_exon_variant,,ENST00000493816,;	A	ENST00000377304	Transcript	missense_variant	1499/2201	1080/1410	360/469	Q/H	caG/caT		1		-1	NSUN6	HGNC	HGNC:23529	protein_coding	YES	CCDS7130.1	ENSP00000366519	Q8TEA1		UPI0000073CED	NM_182543.3	tolerated(0.09)		10/11		PROSITE_profiles:PS51686,hmmpanther:PTHR22807,hmmpanther:PTHR22807:SF34,Pfam_domain:PF01189,Gene3D:3.40.50.150,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	18548229	18548229	C	A	1	0	0	0	0	1	0	0	0	10745	796	28	2		2	NSUN6	10	18548229	Missense_Mutation	SNP	C	C3N-00549_TP	2869491	18548229	115249193	230	16420											
ANKRD30A	0	.	GRCh38	chr10	37217816	37217816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttagaagtgaaacaacaaCttgaacaggctctcagaata	18	8	8	7	0	1	4	1	2	1	2	2	4	1	4	0	1	4	2	0	1	8	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.3037C>A	p.Leu1013Ile	p.L1013I	ENST00000361713	33/36	68	55	13	51	51	0	strelka-varscan	ANKRD30A,missense_variant,p.Leu1132Ile,ENST00000374660,;ANKRD30A,missense_variant,p.Leu1069Ile,ENST00000611781,;ANKRD30A,missense_variant,p.Leu1013Ile,ENST00000602533,;ANKRD30A,missense_variant,p.Leu1013Ile,ENST00000361713,NM_052997.2;	A	ENST00000361713	Transcript	missense_variant	3136/4405	3037/4026	1013/1341	L/I	Ctt/Att		1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2	tolerated(0.76)		33/36		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	51	37217816	37217816	C	A	1	0	0	0	0	1	0	0	0	761	565	20	2		2	ANKRD30A	10	37217816	Missense_Mutation	SNP	C	C3N-00549_TP	18669587	37217816	96579606	231	16421											
FAM21C	0	.	GRCh38	chr10	45789034	45789034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatcggccacagctcaGagcagccagtggagaagaca	12	4	13	12	1	1	3	1	0	0	3	2	4	1	3	3	3	3	2	3	3	1	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.3188G>T	p.Arg1063Ile	p.R1063I	ENST00000374362	28/30	725	334	391	776	776	0	strelka-varscan	FAM21C,missense_variant,p.Arg1084Ile,ENST00000336378,;FAM21C,missense_variant,p.Arg1063Ile,ENST00000374362,NM_015262.2;FAM21C,missense_variant,p.Arg1084Ile,ENST00000623400,;FAM21C,missense_variant,p.Arg1022Ile,ENST00000540872,NM_001169106.1;FAM21C,missense_variant,p.Arg1005Ile,ENST00000359860,;FAM21C,missense_variant,p.Arg988Ile,ENST00000537517,NM_001169107.1;FAM21C,non_coding_transcript_exon_variant,,ENST00000471102,;FAM21C,downstream_gene_variant,,ENST00000374359,;	T	ENST00000374362	Transcript	missense_variant	3287/4623	3188/3963	1063/1320	R/I	aGa/aTa		1		1	FAM21C	HGNC	HGNC:23414	protein_coding	YES	CCDS44374.2	ENSP00000363482	Q9Y4E1		UPI0000551BE9	NM_015262.2	tolerated(0.08)		28/30		hmmpanther:PTHR21669:SF4,hmmpanther:PTHR21669																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	45789034	45789034	G	T	1	0	0	0	0	1	0	0	0	5412	942	33	2		2	FAM21C	10	45789034	Missense_Mutation	SNP	G	C3N-00549_TP	8571218	45789034	88008388	232	16422											
CHAT	0	.	GRCh38	chr10	49619767	49619767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccgctgcagcagaccctgGccacgtacctgcagtgcatg	7	6	11	17	2	0	1	0	0	0	1	0	1	0	1	5	1	5	6	5	1	1	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.430G>T	p.Ala144Ser	p.A144S	ENST00000337653	3/15	493	243	250	416	416	0	strelka-varscan	CHAT,missense_variant,p.Ala62Ser,ENST00000395562,NM_001142933.1;CHAT,missense_variant,p.Ala144Ser,ENST00000337653,NM_020549.4;CHAT,missense_variant,p.Ala26Ser,ENST00000351556,NM_020985.3,NM_001142934.1,NM_001142929.1;CHAT,missense_variant,p.Ala26Ser,ENST00000339797,NM_020984.3;CHAT,missense_variant,p.Ala26Ser,ENST00000395559,NM_020986.3;CHAT,non_coding_transcript_exon_variant,,ENST00000460699,;CHAT,non_coding_transcript_exon_variant,,ENST00000490270,;CHAT,non_coding_transcript_exon_variant,,ENST00000481336,;CHAT,3_prime_UTR_variant,,ENST00000466590,;	T	ENST00000337653	Transcript	missense_variant	583/2458	430/2247	144/748	A/S	Gcc/Tcc		1		1	CHAT	HGNC	HGNC:1912	protein_coding	YES	CCDS7232.1	ENSP00000337103	P28329		UPI000013F1B9	NM_020549.4	tolerated(0.71)		3/15		Pfam_domain:PF00755,PROSITE_patterns:PS00439,hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF14,Superfamily_domains:SSF52777																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	49619767	49619767	G	T	1	0	0	0	0	1	0	0	0	3073	1203	42	2		2	CHAT	10	49619767	Missense_Mutation	SNP	G	C3N-00549_TP	3830733	49619767	84177655	233	16423											
PCDH15	0	.	GRCh38	chr10	54023133	54023133	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattggatgtgatacgaaaaAgattattaaagttacccaaa	18	11	7	5	1	0	2	0	1	0	1	0	4	0	3	1	1	2	1	1	1	8	5	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.2300T>G	p.Leu767Arg	p.L767R	ENST00000373957	20/35	240	175	65	280	280	0	strelka-varscan-mutect	PCDH15,missense_variant,p.Leu767Arg,ENST00000614895,;PCDH15,missense_variant,p.Leu762Arg,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Leu762Arg,ENST00000414778,;PCDH15,missense_variant,p.Leu767Arg,ENST00000617051,;PCDH15,missense_variant,p.Leu767Arg,ENST00000373957,NM_001142763.1;PCDH15,missense_variant,p.Leu762Arg,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,missense_variant,p.Leu762Arg,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Leu740Arg,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Leu725Arg,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Leu762Arg,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Leu691Arg,ENST00000622048,;PCDH15,missense_variant,p.Leu691Arg,ENST00000437009,NM_001142765.1;PCDH15,missense_variant,p.Leu762Arg,ENST00000617271,NM_001142770.1;PCDH15,missense_variant,p.Leu774Arg,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Leu769Arg,ENST00000395445,;PCDH15,missense_variant,p.Leu762Arg,ENST00000616114,;PCDH15,missense_variant,p.Leu762Arg,ENST00000395438,;PCDH15,missense_variant,p.Leu774Arg,ENST00000612394,;PCDH15,missense_variant,p.Leu767Arg,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Leu373Arg,ENST00000409834,;PCDH15,missense_variant,p.Leu762Arg,ENST00000373955,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	C	ENST00000373957	Transcript	missense_variant	2695/7032	2300/5889	767/1962	L/R	cTt/cGt		1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1	deleterious(0.02)		20/35		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	51	54023133	54023133	A	C	1	0	0	0	0	1	0	0	0	11598	72	3	5		5	PCDH15	10	54023133	Missense_Mutation	SNP	A	C3N-00549_TP	4403366	54023133	79774289	234	16424											
OIT3	0	.	GRCh38	chr10	72924237	72924237	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggctcaggtggtgaaTgacaagattgtggccagcaa	10	8	15	8	0	1	3	1	2	0	1	1	3	1	3	2	5	1	2	2	5	3	1	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.960T>A	p.Asn320Lys	p.N320K	ENST00000334011	7/9	33	19	14	22	22	0	strelka-varscan-mutect	OIT3,missense_variant,p.Asn320Lys,ENST00000334011,NM_152635.2;OIT3,intron_variant,,ENST00000622652,;	A	ENST00000334011	Transcript	missense_variant	1178/2365	960/1638	320/545	N/K	aaT/aaA		1		1	OIT3	HGNC	HGNC:29953	protein_coding	YES	CCDS7318.1	ENSP00000333900	Q8WWZ8		UPI00000389F9	NM_152635.2	tolerated(0.67)		7/9		PROSITE_profiles:PS51034,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF326,Pfam_domain:PF00100,SMART_domains:SM00241																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	72924237	72924237	T	A	1	0	0	0	0	1	0	0	0	10924	1461	51	4		4	OIT3	10	72924237	Missense_Mutation	SNP	T	C3N-00549_TP	18901104	72924237	60873185	235	16425											
SAMD8	0	.	GRCh38	chr10	75164679	75164679	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgggcctttgccatgacgGaagtatgtggcatgattctg	8	12	13	8	1	1	2	0	2	1	0	1	3	1	3	2	3	1	2	2	3	2	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.613G>T	p.Glu205Ter	p.E205*	ENST00000542569	3/6	260	187	73	294	294	0	strelka-varscan-mutect	SAMD8,stop_gained,p.Glu205Ter,ENST00000372687,NM_144660.2;SAMD8,stop_gained,p.Glu205Ter,ENST00000542569,NM_001174156.1;SAMD8,stop_gained,p.Glu268Ter,ENST00000372690,;SAMD8,stop_gained,p.Glu205Ter,ENST00000447533,;	T	ENST00000542569	Transcript	stop_gained	716/6782	613/1248	205/415	E/*	Gaa/Taa		1		1	SAMD8	HGNC	HGNC:26320	protein_coding	YES	CCDS53543.1	ENSP00000438042	Q96LT4		UPI000023FEEB	NM_001174156.1			3/6		hmmpanther:PTHR21290,hmmpanther:PTHR21290:SF25,Transmembrane_helices:TMhelix																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	51	75164679	75164679	G	T	1	0	0	0	0	0	1	0	0	14085	1175	41	2		2	SAMD8	10	75164679	Nonsense_Mutation	SNP	G	C3N-00549_TP	2240442	75164679	58632743	236	16426											
COL17A1	0	.	GRCh38	chr10	104063770	104063770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggatgtgctgagtccaGggtgcaaagtgggtgagcag	10	7	19	5	0	0	2	0	2	0	0	1	4	1	4	1	4	3	3	1	4	1	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.815C>A	p.Pro272His	p.P272H	ENST00000353479	11/56	807	427	380	616	613	3	strelka-varscan-mutect	COL17A1,missense_variant,p.Pro272His,ENST00000353479,NM_000494.3;COL17A1,missense_variant,p.Pro272His,ENST00000369733,;COL17A1,missense_variant,p.Pro272His,ENST00000393211,;COL17A1,non_coding_transcript_exon_variant,,ENST00000488320,;	T	ENST00000353479	Transcript	missense_variant	1106/5734	815/4494	272/1497	P/H	cCt/cAt		1		-1	COL17A1	HGNC	HGNC:2194	protein_coding	YES	CCDS7554.1	ENSP00000340937	Q9UMD9		UPI000006DB58	NM_000494.3	deleterious(0.02)		11/56																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	104063770	104063770	G	T	1	0	0	0	0	1	0	0	0	3462	1000	35	2		2	COL17A1	10	104063770	Missense_Mutation	SNP	G	C3N-00549_TP	28899091	104063770	29733652	237	16427											
MKI67	0	.	GRCh38	chr10	128103711	128103711	+	Frame_Shift_Del	DEL	G	G	-																															tggtgtctaccacttctagtGggggagattcgcagggtatt																								rs540401023		C3N-00549_TP	C3N-00549_NB	G	G																c.8129delC	p.Pro2710HisfsTer2	p.P2710Hfs*2	ENST00000368654	13/15	345	189	156	239	239	0	sindel-varindel-pindel	MKI67,frameshift_variant,p.Pro2710HisfsTer2,ENST00000368654,NM_002417.4;MKI67,frameshift_variant,p.Pro2350HisfsTer2,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;	-	ENST00000368654	Transcript	frameshift_variant	8505/12678	8129/9771	2710/3256	P/X	cCa/ca	rs540401023	1		-1	MKI67	HGNC	HGNC:7107	protein_coding	YES	CCDS7659.1	ENSP00000357643	P46013		UPI000013DB54	NM_002417.4			13/15		Pfam_domain:PF08065,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,SMART_domains:SM01295																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	51	128103711	128103711	G	-	1	0	1	0	1	0	0	0	0	9566	1348	47	0		0	MKI67	10	128103711	Frame_Shift_Del	DEL	G	C3N-00549_TP	24039941	128103711	5693711	238	16428											
MKI67	0	.	GRCh38	chr10	128105066	128105083	+	In_Frame_Del	DEL	TCGTTTCCTGAGTGCTAA	TCGTTTCCTGAGTGCTAA	-																															gctttccctactgatggtgtTcgtttcctgagtgctaagga																								novel		C3N-00549_TP	C3N-00549_NB	TCGTTTCCTGAGTGCTAA	TCGTTTCCTGAGTGCTAA																c.6757_6774delTTAGCACTCAGGAAACGA	p.Leu2253_Arg2258del	p.L2253_R2258del	ENST00000368654	13/15	528	331	197	342	342	0	sindel-varindel-pindel	MKI67,inframe_deletion,p.Leu2253_Arg2258del,ENST00000368654,NM_002417.4;MKI67,inframe_deletion,p.Leu1893_Arg1898del,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;	-	ENST00000368654	Transcript	inframe_deletion	7133-7150/12678	6757-6774/9771	2253-2258/3256	LALRKR/-	TTAGCACTCAGGAAACGA/-		1		-1	MKI67	HGNC	HGNC:7107	protein_coding	YES	CCDS7659.1	ENSP00000357643	P46013		UPI000013DB54	NM_002417.4			13/15		Pfam_domain:PF08065,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,SMART_domains:SM01295																	MODERATE	1	deletion	2			1										PASS		.	.												-	7	5	51	128105066	128105066	TCGTTTCCTGAGTGCTAA	-	1	0	1	0	1	0	0	0	0	9566	1770	62	0		0	MKI67	10	128105066	In_Frame_Del	DEL	TCGTTTCCTGAGTGCTAA	C3N-00549_TP	1355	128105066	5692356	239	16429											
PHRF1	0	.	GRCh38	chr11	607734	607734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagctcccatggcagtttgGccccactgggaccatcaaga	9	7	10	15	0	1	1	1	0	0	1	2	2	2	2	5	3	1	3	5	3	1	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.2278G>T	p.Ala760Ser	p.A760S	ENST00000264555	14/18	100	26	74	101	101	0	strelka-varscan-mutect	PHRF1,missense_variant,p.Ala760Ser,ENST00000264555,NM_001286581.1;PHRF1,missense_variant,p.Ala759Ser,ENST00000416188,NM_020901.3;PHRF1,missense_variant,p.Ala758Ser,ENST00000413872,NM_001286582.1;PHRF1,missense_variant,p.Ala756Ser,ENST00000533464,NM_001286583.1;IRF7,downstream_gene_variant,,ENST00000397566,NM_004031.2;IRF7,downstream_gene_variant,,ENST00000330243,;IRF7,downstream_gene_variant,,ENST00000397574,NM_001572.3;IRF7,downstream_gene_variant,,ENST00000397570,;IRF7,downstream_gene_variant,,ENST00000348655,NM_004029.2;IRF7,downstream_gene_variant,,ENST00000525445,;PHRF1,missense_variant,p.Ala760Ser,ENST00000534320,;IRF7,downstream_gene_variant,,ENST00000533182,;IRF7,downstream_gene_variant,,ENST00000469048,;IRF7,downstream_gene_variant,,ENST00000532326,;IRF7,downstream_gene_variant,,ENST00000531912,;PHRF1,downstream_gene_variant,,ENST00000532550,;IRF7,downstream_gene_variant,,ENST00000528413,;	T	ENST00000264555	Transcript	missense_variant	2406/5523	2278/4950	760/1649	A/S	Gcc/Tcc		1		1	PHRF1	HGNC	HGNC:24351	protein_coding	YES	CCDS65988.1	ENSP00000264555	Q9P1Y6	A0A024RCA1	UPI000041A715	NM_001286581.1	tolerated(0.75)		14/18																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	607734	607734	G	T	1	0	0	0	0	1	0	0	0	11949	1203	42	2		2	PHRF1	11	607734	Missense_Mutation	SNP	G	C3N-00549_TP		607734	134478888	240	16430											
KRTAP5-4	0	.	GRCh38	chr11	1621852	1621852	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaacccccacaagagccaTagccccccttggagccccca	10	4	8	19	0	0	1	0	0	0	1	0	3	0	3	8	2	4	0	8	2	3	2	rs1686789		C3N-00549_TP	C3N-00549_NB	T	T																c.242A>G	p.Tyr81Cys	p.Y81C	ENST00000399682	1/1	117	109	8	151	150	1	varscan-mutect	KRTAP5-4,missense_variant,p.Tyr81Cys,ENST00000399682,;KRTAP5-4,missense_variant,p.Tyr81Cys,ENST00000616115,;	C	ENST00000399682	Transcript	missense_variant	287/1181	242/687	81/228	Y/C	tAt/tGt	rs1686789	1		-1	KRTAP5-4	HGNC	HGNC:23599	protein_coding	YES		ENSP00000382590		A8MUN0	UPI0000E592E4		deleterious_low_confidence(0.01)		1/1		Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		rs1686789	.												C	3	2	51	1621852	1621852	T	C	1	0	0	0	0	1	0	0	0	8458	1406	49	5		5	KRTAP5-4	11	1621852	Missense_Mutation	SNP	T	C3N-00549_TP	1014118	1621852	133464770	241	16431											
OR52E8	0	.	GRCh38	chr11	5856761	5856761	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactggttagtgattggtCttgagaaaaatcctcagcac	12	11	9	9	0	2	2	1	2	1	1	3	3	3	2	2	2	2	2	2	2	4	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.942G>T	p.Lys314Asn	p.K314N	ENST00000537935	1/1	14	2	12	18	18	0	strelka-varscan-mutect	OR52E8,missense_variant,p.Lys314Asn,ENST00000537935,NM_001005168.1;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	A	ENST00000537935	Transcript	missense_variant	974/1061	942/954	314/317	K/N	aaG/aaT		1		-1	OR52E8	HGNC	HGNC:15217	protein_coding	YES	CCDS31400.1	ENSP00000444054	Q6IFG1	A0A126GVH0	UPI000004B211	NM_001005168.1	tolerated(0.08)		1/1		hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF170,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	51	5856761	5856761	C	A	1	0	0	0	0	1	0	0	0	11191	912	32	2		2	OR52E8	11	5856761	Missense_Mutation	SNP	C	C3N-00549_TP	4234909	5856761	129229861	242	16432											
C11orf42	0	.	GRCh38	chr11	6210934	6210934	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggctcttcagcccccgCagccctccaccaggagccca	8	5	8	20	1	2	0	1	0	1	0	3	1	3	1	6	2	4	2	6	2	1	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.894C>A	p.=	p.R298R	ENST00000316375	3/3	46	18	28	76	76	0	strelka-varscan-mutect	C11orf42,synonymous_variant,p.=,ENST00000316375,NM_173525.2;FAM160A2,downstream_gene_variant,,ENST00000265978,NM_032127.3;FAM160A2,downstream_gene_variant,,ENST00000449352,NM_001098794.1;FAM160A2,downstream_gene_variant,,ENST00000529360,;	A	ENST00000316375	Transcript	synonymous_variant	944/1142	894/1002	298/333	R	cgC/cgA		1		1	C11orf42	HGNC	HGNC:28541	protein_coding	YES	CCDS7759.1	ENSP00000321021	Q8N5U0		UPI000013FD81	NM_173525.2			3/3		Pfam_domain:PF15668,hmmpanther:PTHR36872,hmmpanther:PTHR36872:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	51	6210934	6210934	C	A	1	0	0	0	0	0	0	0	1	1782	697	25	2		2	C11orf42	11	6210934	Silent	SNP	C	C3N-00549_TP	354173	6210934	128875688	243	16433											
PIK3C2A	0	.	GRCh38	chr11	17101428	17101428	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggtcagcacaaaaggagcCcgatccctatttaaaatgaa	16	7	9	9	1	1	1	1	1	0	0	2	4	2	2	2	2	2	1	2	2	6	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.3858G>T	p.=	p.R1286R	ENST00000265970	24/32	51	18	33	61	61	0	strelka-varscan-mutect	PIK3C2A,synonymous_variant,p.=,ENST00000265970,NM_001321378.1,NM_002645.2;PIK3C2A,intron_variant,,ENST00000531428,;	A	ENST00000265970	Transcript	synonymous_variant	3858/8227	3858/5061	1286/1686	R	cgG/cgT		1		-1	PIK3C2A	HGNC	HGNC:8971	protein_coding	YES	CCDS7824.1	ENSP00000265970	O00443	L7RRS0	UPI000013D6B3	NM_001321378.1,NM_002645.2			24/32		Gene3D:1.10.1070.11,Pfam_domain:PF00454,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF28,SMART_domains:SM00146,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	51	17101428	17101428	C	A	1	0	0	0	0	0	0	0	1	12004	610	22	2		2	PIK3C2A	11	17101428	Silent	SNP	C	C3N-00549_TP	10890494	17101428	117985194	244	16434											
MRGPRX2	0	.	GRCh38	chr11	19055893	19055893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaccatcactaaataaGaagccacagaacttcccttc	15	8	5	13	0	2	2	2	0	0	2	4	3	3	2	3	0	2	0	3	0	5	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.510C>A	p.Phe170Leu	p.F170L	ENST00000329773	2/2	109	32	77	138	138	0	strelka-varscan-mutect	MRGPRX2,missense_variant,p.Phe170Leu,ENST00000329773,NM_001303615.1,NM_054030.3;	T	ENST00000329773	Transcript	missense_variant	598/2036	510/993	170/330	F/L	ttC/ttA		1		-1	MRGPRX2	HGNC	HGNC:17983	protein_coding	YES	CCDS7847.1	ENSP00000333800	Q96LB1		UPI0000038C81	NM_001303615.1,NM_054030.3	tolerated(0.22)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF35,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	19055893	19055893	G	T	1	0	0	0	0	1	0	0	0	9734	933	33	2		2	MRGPRX2	11	19055893	Missense_Mutation	SNP	G	C3N-00549_TP	1954465	19055893	116030729	245	16435											
SLC6A5	0	.	GRCh38	chr11	20652442	20652442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaaatgcatctggcccctGgaagatttattgaggtaatt	13	13	9	6	0	1	2	0	1	1	1	1	3	1	3	2	3	1	2	2	3	6	6	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.2224G>A	p.Gly742Arg	p.G742R	ENST00000525748	15/16	329	122	207	426	426	0	strelka-varscan-mutect	SLC6A5,missense_variant,p.Gly742Arg,ENST00000525748,NM_004211.3;SLC6A5,non_coding_transcript_exon_variant,,ENST00000528440,;SLC6A5,3_prime_UTR_variant,,ENST00000298923,;	A	ENST00000525748	Transcript	missense_variant	2497/7084	2224/2394	742/797	G/R	Gga/Aga		1		1	SLC6A5	HGNC	HGNC:11051	protein_coding	YES	CCDS7854.1	ENSP00000434364	Q9Y345		UPI00004564A5	NM_004211.3	deleterious(0)		15/16		PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF158																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	20652442	20652442	G	A	1	0	0	0	0	1	0	0	0	14970	1349	47	3		3	SLC6A5	11	20652442	Missense_Mutation	SNP	G	C3N-00549_TP	1596549	20652442	114434180	246	16436											
RAPSN	0	.	GRCh38	chr11	47448091	47448091	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtgccaggttcaggtagctCtccaggaggaagtcggcatc	8	8	14	11	2	2	0	1	0	1	0	5	2	2	2	2	5	2	4	2	5	2	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.252G>C	p.Glu84Asp	p.E84D	ENST00000298854	2/8	224	78	146	249	249	0	strelka-varscan-mutect	RAPSN,missense_variant,p.Glu84Asp,ENST00000298854,NM_005055.4;RAPSN,missense_variant,p.Glu84Asp,ENST00000524487,;RAPSN,missense_variant,p.Glu84Asp,ENST00000352508,NM_032645.4;RAPSN,missense_variant,p.Glu84Asp,ENST00000529341,;	G	ENST00000298854	Transcript	missense_variant	466/1671	252/1239	84/412	E/D	gaG/gaC		1		-1	RAPSN	HGNC	HGNC:9863	protein_coding	YES	CCDS7936.1	ENSP00000298854	Q13702	A0A0S2Z4F8	UPI0000071D46	NM_005055.4	tolerated(0.12)		2/8		hmmpanther:PTHR10098,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	51	47448091	47448091	C	G	1	0	0	0	0	1	0	0	0	13210	912	32	4		4	RAPSN	11	47448091	Missense_Mutation	SNP	C	C3N-00549_TP	26795649	47448091	87638531	247	16437											
OR4A15	0	.	GRCh38	chr11	55368388	55368388	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatgaatcgtcgagtcTgtgttcttatgctgttggcg	6	15	11	9	3	3	1	1	1	2	0	5	2	3	1	1	1	1	3	1	1	2	3	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.505T>A	p.Cys169Ser	p.C169S	ENST00000314706	1/1	267	161	106	168	168	0	strelka-varscan-mutect	OR4A15,missense_variant,p.Cys169Ser,ENST00000314706,NM_001005275.1;	A	ENST00000314706	Transcript	missense_variant	505/1035	505/1035	169/344	C/S	Tgt/Agt		1		1	OR4A15	HGNC	HGNC:15152	protein_coding	YES	CCDS31500.1	ENSP00000325065	Q8NGL6		UPI000004618F	NM_001005275.1	deleterious_low_confidence(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	51	55368388	55368388	T	A	1	0	0	0	0	1	0	0	0	11117	1580	55	4		4	OR4A15	11	55368388	Missense_Mutation	SNP	T	C3N-00549_TP	7920297	55368388	79718234	248	16438											
OR8I2	0	.	GRCh38	chr11	56094039	56094039	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacctgcgcatcccacctCatggctgtaactatctttta	8	13	5	15	1	2	0	1	0	1	0	4	0	4	0	4	1	2	3	4	1	3	4	rs759448888		C3N-00549_TP	C3N-00549_NB	C	C																c.732C>A	p.=	p.L244L	ENST00000302124	1/1	119	63	56	104	104	0	strelka-varscan-mutect	OR8I2,synonymous_variant,p.=,ENST00000302124,NM_001003750.1;OR8I4P,downstream_gene_variant,,ENST00000526965,;	A	ENST00000302124	Transcript	synonymous_variant	732/933	732/933	244/310	L	ctC/ctA	rs759448888	1		1	OR8I2	HGNC	HGNC:15310	protein_coding	YES	CCDS31517.1	ENSP00000303864	Q8N0Y5		UPI0000041D16	NM_001003750.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	LOW	1	SNV				1										PASS		rs759448888	.												A	2	1	51	56094039	56094039	C	A	1	0	0	0	0	0	0	0	1	11308	813	29	2		2	OR8I2	11	56094039	Silent	SNP	C	C3N-00549_TP	725651	56094039	78992583	249	16439											
OR8J3	0	.	GRCh38	chr11	56137484	56137484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagttcatcagcattttagGggcaatgacagtagagttgc	13	11	11	6	0	2	2	2	1	0	1	2	2	2	2	0	2	2	5	0	2	4	5			C3N-00549_TP	C3N-00549_NB	G	G																c.235C>A	p.Pro79Thr	p.P79T	ENST00000301529	1/1	200	117	83	223	223	0	strelka-varscan-mutect	OR8J3,missense_variant,p.Pro79Thr,ENST00000301529,NM_001004064.1;OR5BN1P,upstream_gene_variant,,ENST00000532955,;	T	ENST00000301529	Transcript	missense_variant	235/948	235/948	79/315	P/T	Cct/Act	COSM3449241,COSM5235815	1		-1	OR8J3	HGNC	HGNC:15312	protein_coding	YES	CCDS31520.1	ENSP00000301529	Q8NGG0	A0A126GVE3	UPI0000061E99	NM_001004064.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF249,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1,1						MODERATE	1	SNV			1,1	1										PASS		.	.												T	3	4	51	56137484	56137484	G	T	1	0	0	0	0	1	0	0	0	11310	1232	43	2		2	OR8J3	11	56137484	Missense_Mutation	SNP	G	C3N-00549_TP	43445	56137484	78949138	250	16440											
OR5AP2	0	.	GRCh38	chr11	56641953	56641953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatccctgtatgtatggCtgcatttccacaacctgcta	9	13	7	12	0	1	0	1	0	0	0	3	0	3	0	3	1	3	5	3	1	4	4	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.487G>T	p.Ala163Ser	p.A163S	ENST00000302981	1/1	223	150	73	203	202	1	strelka-varscan-mutect	OR5AP2,missense_variant,p.Ala164Ser,ENST00000544374,;OR5AP2,missense_variant,p.Ala163Ser,ENST00000302981,NM_001002925.1;	A	ENST00000302981	Transcript	missense_variant	487/951	487/951	163/316	A/S	Gcc/Tcc		1		-1	OR5AP2	HGNC	HGNC:15258	protein_coding	YES	CCDS31534.1	ENSP00000303111	Q8NGF4		UPI0000061EE6	NM_001002925.1	tolerated(0.34)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF151,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1344453420	.												A	3	1	51	56641953	56641953	C	A	1	0	0	0	0	1	0	0	0	11216	797	28	2		2	OR5AP2	11	56641953	Missense_Mutation	SNP	C	C3N-00549_TP	504469	56641953	78444669	251	16441											
OR10W1	0	.	GRCh38	chr11	58267185	58267185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggagaaggcccggtggCggccagcagccgagtggatc	8	4	19	10	3	0	1	0	0	0	1	1	4	0	2	3	7	2	1	3	7	1	0	rs200070425		C3N-00549_TP	C3N-00549_NB	C	C																c.674G>T	p.Arg225Leu	p.R225L	ENST00000395079	1/1	147	85	62	128	128	0	strelka-varscan-mutect	OR10W1,missense_variant,p.Arg225Leu,ENST00000395079,NM_207374.3;	A	ENST00000395079	Transcript	missense_variant	1076/1469	674/918	225/305	R/L	cGc/cTc	rs200070425,COSM290329	1		-1	OR10W1	HGNC	HGNC:15139	protein_coding	YES	CCDS7968.1	ENSP00000378516	Q8NGF6		UPI000004B229	NM_207374.3	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF165,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs200070425	.												A	3	1	51	58267185	58267185	C	A	1	0	0	0	0	1	0	0	0	10998	768	27	1		1	OR10W1	11	58267185	Missense_Mutation	SNP	C	C3N-00549_TP	1625232	58267185	76819437	252	16442											
OR5B21	0	.	GRCh38	chr11	58508034	58508034	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aataaaaatgccaggaggagGggtatctgaagattggggtc	14	8	15	4	0	1	2	0	1	1	1	2	4	1	4	1	6	1	1	1	6	6	3			C3N-00549_TP	C3N-00549_NB	G	G																c.72C>T	p.=	p.P24P	ENST00000360374	1/1	200	114	86	151	151	0	strelka-varscan-mutect	OR5B21,synonymous_variant,p.=,ENST00000360374,NM_001005218.1;RP11-655C2.3,upstream_gene_variant,,ENST00000531715,;RP11-655C2.3,upstream_gene_variant,,ENST00000528978,;RP11-655C2.3,upstream_gene_variant,,ENST00000527054,;	A	ENST00000360374	Transcript	synonymous_variant	72/931	72/930	24/309	P	ccC/ccT	COSM3953472	1		-1	OR5B21	HGNC	HGNC:19616	protein_coding	YES	CCDS31552.1	ENSP00000353537	A6NL26		UPI000015FCAA	NM_001005218.1			1/1		hmmpanther:PTHR26452:SF329,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						LOW		SNV			1	1										PASS		.	.												A	2	1	51	58508034	58508034	G	A	1	0	0	0	0	0	0	0	1	11222	1219	43	3		3	OR5B21	11	58508034	Silent	SNP	G	C3N-00549_TP	240849	58508034	76578588	253	16443											
TCN1	0	.	GRCh38	chr11	59852978	59852978	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaagtttgggcttattaGtatttgctccagcgaacctc	10	13	10	8	1	0	0	0	0	0	0	2	2	1	1	2	2	3	4	2	2	5	5	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1299C>A	p.Tyr433Ter	p.Y433*	ENST00000257264	9/9	564	355	209	448	448	0	strelka-varscan-mutect	TCN1,stop_gained,p.Tyr433Ter,ENST00000257264,NM_001062.3;TCN1,downstream_gene_variant,,ENST00000532419,;TCN1,downstream_gene_variant,,ENST00000534531,;TCN1,non_coding_transcript_exon_variant,,ENST00000529251,;	T	ENST00000257264	Transcript	stop_gained	1404/1582	1299/1302	433/433	Y/*	taC/taA		1		-1	TCN1	HGNC	HGNC:11652	protein_coding	YES	CCDS7978.1	ENSP00000257264	P20061		UPI000013CF55	NM_001062.3			9/9		hmmpanther:PTHR10559,hmmpanther:PTHR10559:SF13																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	51	59852978	59852978	G	T	1	0	0	0	0	0	1	0	0	16113	1024	36	2		2	TCN1	11	59852978	Nonsense_Mutation	SNP	G	C3N-00549_TP	1344944	59852978	75233644	254	16444											
MS4A4E	0	.	GRCh38	chr11	60229913	60229913	+	Missense_Mutation	SNP	C	C	A																															agatttgcaattgacttaccCcaaggactttgggtttcctc																								novel		C3N-00549_TP	C3N-00549_NB	C	C																c.143G>T	p.Gly48Val	p.G48V	ENST00000398986	1/5	129	89	40	169	169	0	strelka-varscan-mutect	MS4A4E,missense_variant,p.Gly48Val,ENST00000528394,;MS4A4E,missense_variant,p.Gly48Val,ENST00000398986,;MS4A4E,missense_variant,p.Gly48Val,ENST00000398984,;MS4A4E,missense_variant,p.Gly48Val,ENST00000526086,;MS4A4E,missense_variant,p.Gly48Val,ENST00000425663,;MS4A4E,missense_variant,p.Gly48Val,ENST00000532442,;MS4A4E,missense_variant,p.Gly45Val,ENST00000526153,;	A	ENST00000398986	Transcript	missense_variant,splice_region_variant	159/522	143/504	48/167	G/V	gGg/gTg		1		-1	MS4A4E	HGNC	HGNC:14284	protein_coding	YES		ENSP00000381956		A0A0A0MS95	UPI0004E4CA3C		deleterious(0)		1/5		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF59,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		rs1377478597	.												A	3	1	51	60229913	60229913	C	A	1	0	0	0	0	1	0	0	0	9841	637	22	2		2	MS4A4E	11	60229913	Missense_Mutation	SNP	C	C3N-00549_TP	376935	60229913	74856709	255	16445	355	2									
MS4A4E	0	.	GRCh38	chr11	60229914	60229914	+	Missense_Mutation	SNP	C	C	A																															gatttgcaattgacttacccCaaggactttgggtttcctct																								novel		C3N-00549_TP	C3N-00549_NB	C	C																c.142G>T	p.Gly48Trp	p.G48W	ENST00000398986	1/5	130	90	40	171	171	0	strelka-mutect	MS4A4E,missense_variant,p.Gly48Trp,ENST00000528394,;MS4A4E,missense_variant,p.Gly48Trp,ENST00000398986,;MS4A4E,missense_variant,p.Gly48Trp,ENST00000398984,;MS4A4E,missense_variant,p.Gly48Trp,ENST00000526086,;MS4A4E,missense_variant,p.Gly48Trp,ENST00000425663,;MS4A4E,missense_variant,p.Gly48Trp,ENST00000532442,;MS4A4E,missense_variant,p.Gly45Trp,ENST00000526153,;	A	ENST00000398986	Transcript	missense_variant,splice_region_variant	158/522	142/504	48/167	G/W	Ggg/Tgg		1		-1	MS4A4E	HGNC	HGNC:14284	protein_coding	YES		ENSP00000381956		A0A0A0MS95	UPI0004E4CA3C		deleterious(0)		1/5		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF59,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	51	60229914	60229914	C	A	1	0	0	0	0	1	0	0	0	9841	608	21	2		2	MS4A4E	11	60229914	Missense_Mutation	SNP	C	C3N-00549_TP	1	60229914	74856708	256	16446	355	2									
SLC22A12	0	.	GRCh38	chr11	64599748	64599748	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcagcaacatcttcctgctCcaaatgttcattggtgtcgt	8	13	9	11	1	2	0	1	0	1	0	5	0	4	0	2	2	3	4	2	2	2	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1143C>T	p.=	p.L381L	ENST00000377574	7/10	460	274	186	363	363	0	strelka-varscan-mutect	SLC22A12,synonymous_variant,p.=,ENST00000377574,NM_144585.3;SLC22A12,synonymous_variant,p.=,ENST00000377572,NM_001276327.1;SLC22A12,synonymous_variant,p.=,ENST00000377567,;SLC22A12,synonymous_variant,p.=,ENST00000473690,NM_153378.2;SLC22A12,synonymous_variant,p.=,ENST00000336464,NM_001276326.1;	T	ENST00000377574	Transcript	synonymous_variant	1890/3206	1143/1662	381/553	L	ctC/ctT		1		1	SLC22A12	HGNC	HGNC:17989	protein_coding	YES	CCDS8075.1	ENSP00000366797	Q96S37		UPI0000040C17	NM_144585.3			7/10		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF205,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	51	64599748	64599748	C	T	1	0	0	0	0	0	0	0	1	14709	842	30	3		3	SLC22A12	11	64599748	Silent	SNP	C	C3N-00549_TP	4369834	64599748	70486874	257	16447											
NRXN2	0	.	GRCh38	chr11	64690405	64690405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccatgggggtcactgacCttttgttggctggtgcacat	6	12	14	9	0	1	1	1	1	0	0	1	2	1	2	2	5	1	3	2	5	0	3			C3N-00549_TP	C3N-00549_NB	C	C																c.850G>T	p.Gly284Cys	p.G284C	ENST00000265459	5/23	320	206	114	194	194	0	strelka-varscan-mutect	NRXN2,missense_variant,p.Gly284Cys,ENST00000265459,NM_015080.3;NRXN2,missense_variant,p.Gly284Cys,ENST00000409571,;NRXN2,missense_variant,p.Gly284Cys,ENST00000377551,;NRXN2,missense_variant,p.Gly55Cys,ENST00000442300,;NRXN2,missense_variant,p.Gly74Cys,ENST00000437746,;NRXN2,missense_variant,p.Gly45Cys,ENST00000417749,;NRXN2,intron_variant,,ENST00000377559,NM_138732.2;NRXN2,intron_variant,,ENST00000466324,;	A	ENST00000265459	Transcript	missense_variant,splice_region_variant	1312/6621	850/5139	284/1712	G/C	Ggc/Tgc	COSM4977317	1		-1	NRXN2	HGNC	HGNC:8009	protein_coding	YES	CCDS8077.1	ENSP00000265459	Q9P2S2		UPI0000130AA2	NM_015080.3	deleterious(0)		5/23													1						MODERATE	1	SNV	5		1	1										PASS		rs1159935878	.												A	3	1	51	64690405	64690405	C	A	1	0	0	0	0	1	0	0	0	10725	695	24	2		2	NRXN2	11	64690405	Missense_Mutation	SNP	C	C3N-00549_TP	90657	64690405	70396217	258	16448											
EIF1AD	0	.	GRCh38	chr11	65999574	65999574	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggaccacctaccaaaaccCctccttctgcagagagcgca	11	5	9	16	1	1	1	0	0	1	1	2	3	2	2	6	2	4	2	6	2	3	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.298G>T	p.Gly100Trp	p.G100W	ENST00000312234	4/6	157	95	62	149	149	0	strelka-varscan-mutect	EIF1AD,missense_variant,p.Gly100Trp,ENST00000312234,NM_001242482.1,NM_032325.3,NM_001242481.1,NM_001242483.1;EIF1AD,missense_variant,p.Gly100Trp,ENST00000526451,NM_001242486.1,NM_001242484.1,NM_001242485.1;EIF1AD,missense_variant,p.Gly100Trp,ENST00000533544,;EIF1AD,missense_variant,p.Gly100Trp,ENST00000527249,;EIF1AD,missense_variant,p.Gly100Trp,ENST00000529964,;EIF1AD,missense_variant,p.Gly48Trp,ENST00000525767,;EIF1AD,missense_variant,p.Gly100Trp,ENST00000532707,;EIF1AD,missense_variant,p.Gly100Trp,ENST00000530462,;BANF1,upstream_gene_variant,,ENST00000312175,NM_001143985.1,NM_003860.3;BANF1,upstream_gene_variant,,ENST00000533166,;BANF1,upstream_gene_variant,,ENST00000445560,;BANF1,upstream_gene_variant,,ENST00000527348,;EIF1AD,downstream_gene_variant,,ENST00000527051,;BANF1,upstream_gene_variant,,ENST00000530204,;BANF1,upstream_gene_variant,,ENST00000524628,;BANF1,upstream_gene_variant,,ENST00000528648,;BANF1,upstream_gene_variant,,ENST00000524663,;EIF1AD,3_prime_UTR_variant,,ENST00000529973,;EIF1AD,downstream_gene_variant,,ENST00000526449,;	A	ENST00000312234	Transcript	missense_variant	633/2887	298/498	100/165	G/W	Ggg/Tgg		1		-1	EIF1AD	HGNC	HGNC:28147	protein_coding	YES	CCDS8124.1	ENSP00000309175	Q8N9N8	A0A024R5B9	UPI0000070E9C	NM_001242482.1,NM_032325.3,NM_001242481.1,NM_001242483.1	deleterious(0)		4/6		hmmpanther:PTHR21641,Gene3D:2.40.50.140,SMART_domains:SM00652,Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1										PASS		rs960732747	.												A	3	1	51	65999574	65999574	C	A	1	0	0	0	0	1	0	0	0	4827	623	22	2		2	EIF1AD	11	65999574	Missense_Mutation	SNP	C	C3N-00549_TP	1309169	65999574	69087048	259	16449											
SLC29A2	0	.	GRCh38	chr11	66367527	66367527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctgggatgatttattggCcaggtagtagcgggcaaact	9	10	15	7	1	0	1	0	1	0	0	0	2	0	2	2	5	2	3	2	5	4	5	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.670G>T	p.Ala224Ser	p.A224S	ENST00000357440	7/12	388	272	116	285	285	0	strelka-varscan-mutect	SLC29A2,missense_variant,p.Ala224Ser,ENST00000357440,NM_001532.2;SLC29A2,missense_variant,p.Ala224Ser,ENST00000546034,;SLC29A2,missense_variant,p.Ala224Ser,ENST00000544554,NM_001300868.1;SLC29A2,missense_variant,p.Ala224Ser,ENST00000619145,;SLC29A2,missense_variant,p.Ala224Ser,ENST00000311161,NM_001300869.1;RP11-867G23.8,downstream_gene_variant,,ENST00000580881,;RP11-867G23.8,downstream_gene_variant,,ENST00000531602,;SLC29A2,missense_variant,p.Ala224Ser,ENST00000540386,;SLC29A2,missense_variant,p.Gly201Val,ENST00000541567,;	A	ENST00000357440	Transcript	missense_variant	899/2514	670/1371	224/456	A/S	Gcc/Tcc		1		-1	SLC29A2	HGNC	HGNC:11004	protein_coding	YES	CCDS8137.1	ENSP00000350024	Q14542		UPI000013F0E7	NM_001532.2	tolerated(0.7)		7/12		hmmpanther:PTHR10332:SF8,hmmpanther:PTHR10332,TIGRFAM_domain:TIGR00939,Pfam_domain:PF01733,PIRSF_domain:PIRSF016379,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		rs1348381815	.												A	3	1	51	66367527	66367527	C	A	1	0	0	0	0	1	0	0	0	14805	739	26	2		2	SLC29A2	11	66367527	Missense_Mutation	SNP	C	C3N-00549_TP	367953	66367527	68719095	260	16450											
GPR152	0	.	GRCh38	chr11	67452231	67452231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcggggaagaccagccagGgcacgctgaagagtgtggcc	9	4	16	12	2	0	3	0	1	0	2	1	4	0	4	4	4	1	2	4	4	2	0	rs374063857		C3N-00549_TP	C3N-00549_NB	G	G																c.494C>T	p.Pro165Leu	p.P165L	ENST00000312457	1/1	369	209	160	260	260	0	strelka-varscan-mutect	GPR152,missense_variant,p.Pro165Leu,ENST00000312457,NM_206997.1;CABP4,upstream_gene_variant,,ENST00000325656,NM_145200.3;CABP4,upstream_gene_variant,,ENST00000438189,NM_001300896.1,NM_001300895.1;CABP4,upstream_gene_variant,,ENST00000542025,;CABP4,upstream_gene_variant,,ENST00000538060,;CABP4,upstream_gene_variant,,ENST00000542233,;CABP4,upstream_gene_variant,,ENST00000545040,;CABP4,upstream_gene_variant,,ENST00000545777,;	A	ENST00000312457	Transcript	missense_variant	499/1429	494/1413	165/470	P/L	cCc/cTc	rs374063857	1		-1	GPR152	HGNC	HGNC:23622	protein_coding	YES	CCDS8165.1	ENSP00000310255	Q8TDT2	A0A0I9RJ67	UPI000003B364	NM_206997.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF1,hmmpanther:PTHR11334,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE		SNV				1										PASS		rs374063857	.												A	3	1	51	67452231	67452231	G	A	1	0	0	0	0	1	0	0	0	6544	1232	43	3		3	GPR152	11	67452231	Missense_Mutation	SNP	G	C3N-00549_TP	1084704	67452231	67634391	261	16451											
MYEOV	0	.	GRCh38	chr11	69296193	69296193	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaccccacccctcactgctCcacctggggcctgcctctgc	4	7	8	22	0	2	0	1	0	1	0	3	0	3	0	8	2	3	2	8	2	0	0	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.743C>A	p.Ser248Tyr	p.S248Y	ENST00000308946	3/3	140	84	56	87	86	1	strelka-varscan-mutect	MYEOV,missense_variant,p.Ser190Tyr,ENST00000535407,NM_001300923.1,NM_001300924.1,NM_001293294.1,NM_001293296.1;MYEOV,missense_variant,p.Ser248Tyr,ENST00000308946,NM_138768.3;MYEOV,missense_variant,p.Ser248Tyr,ENST00000441339,NM_001293291.1;MYEOV,intron_variant,,ENST00000544008,;MYEOV,downstream_gene_variant,,ENST00000539691,;MYEOV,downstream_gene_variant,,ENST00000540760,;MYEOV,downstream_gene_variant,,ENST00000535597,;MYEOV,non_coding_transcript_exon_variant,,ENST00000535653,;MYEOV,upstream_gene_variant,,ENST00000544781,;	A	ENST00000308946	Transcript	missense_variant	1193/2287	743/942	248/313	S/Y	tCc/tAc		1		1	MYEOV	HGNC	HGNC:7563	protein_coding	YES	CCDS8190.1	ENSP00000308330	Q96EZ4	A0A024R5F1	UPI0000039DE8	NM_138768.3	deleterious_low_confidence(0)		3/3																			MODERATE	1	SNV	1			1										PASS		rs1246868067	.												A	3	1	51	69296193	69296193	C	A	1	0	0	0	0	1	0	0	0	10026	855	30	2		2	MYEOV	11	69296193	Missense_Mutation	SNP	C	C3N-00549_TP	1843962	69296193	65790429	262	16452											
FGF3	0	.	GRCh38	chr11	69818836	69818836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggtgctcgtagacgccgCcacggccgcccgcatcgcgc	6	4	13	18	8	0	1	0	0	0	1	2	1	0	1	4	2	1	3	4	2	2	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.98G>A	p.Gly33Asp	p.G33D	ENST00000334134	1/3	278	161	117	332	332	0	strelka-varscan-mutect	FGF3,missense_variant,p.Gly33Asp,ENST00000334134,NM_005247.2;	T	ENST00000334134	Transcript	missense_variant	189/892	98/720	33/239	G/D	gGc/gAc		1		-1	FGF3	HGNC	HGNC:3681	protein_coding	YES	CCDS8195.1	ENSP00000334122	P11487		UPI0000040661	NM_005247.2	deleterious(0.04)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR11486:SF26,hmmpanther:PTHR11486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	69818836	69818836	C	T	1	0	0	0	0	1	0	0	0	5717	739	26	3		3	FGF3	11	69818836	Missense_Mutation	SNP	C	C3N-00549_TP	522643	69818836	65267786	263	16453											
ANO1	0	.	GRCh38	chr11	70131999	70131999	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctactggaagatgagctCagcctgcgccacggcccgcg	8	5	13	15	4	1	2	1	1	0	1	1	3	1	3	3	2	5	2	3	2	2	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1178C>G	p.Ser393Ter	p.S393*	ENST00000355303	11/26	268	166	102	182	182	0	strelka-varscan-mutect	ANO1,stop_gained,p.Ser393Ter,ENST00000355303,NM_018043.5;ANO1,stop_gained,p.Ser128Ter,ENST00000531349,;ANO1,stop_gained,p.Ser277Ter,ENST00000530676,;ANO1,stop_gained,p.Ser365Ter,ENST00000316296,;ANO1,stop_gained,p.Ser258Ter,ENST00000530480,;RP11-805J14.3,intron_variant,,ENST00000530525,;	G	ENST00000355303	Transcript	stop_gained	1483/4790	1178/2961	393/986	S/*	tCa/tGa		1		1	ANO1	HGNC	HGNC:21625	protein_coding	YES	CCDS44663.1	ENSP00000347454	Q5XXA6		UPI000013CE03	NM_018043.5			11/26		Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF13																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	51	70131999	70131999	C	G	1	0	0	0	0	0	1	0	0	802	838	29	4		4	ANO1	11	70131999	Nonsense_Mutation	SNP	C	C3N-00549_TP	313163	70131999	64954623	264	16454											
GRM5	0	.	GRCh38	chr11	88590716	88590716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaacagctgacttctccCtttcggatcacctaaggcaa	12	9	6	14	1	2	1	1	1	1	0	4	2	2	2	2	2	3	2	2	2	4	3			C3N-00549_TP	C3N-00549_NB	C	C																c.1575G>T	p.Lys525Asn	p.K525N	ENST00000305447	6/9	169	102	67	134	134	0	strelka-varscan-mutect	GRM5,missense_variant,p.Lys525Asn,ENST00000455756,NM_000842.4;GRM5,missense_variant,p.Lys525Asn,ENST00000305447,NM_001143831.2;GRM5,missense_variant,p.Lys525Asn,ENST00000305432,;	A	ENST00000305447	Transcript	missense_variant	1725/4571	1575/3639	525/1212	K/N	aaG/aaT	COSM1357621,COSM1357622	1		-1	GRM5	HGNC	HGNC:4597	protein_coding	YES	CCDS44694.1	ENSP00000306138	P41594		UPI000012F081	NM_001143831.2	deleterious(0.01)		6/9		Pfam_domain:PF07562,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	51	88590716	88590716	C	A	1	0	0	0	0	1	0	0	0	6682	680	24	2		2	GRM5	11	88590716	Missense_Mutation	SNP	C	C3N-00549_TP	18458717	88590716	46495906	265	16455											
TRIM77	0	.	GRCh38	chr11	89715908	89715908	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaatgagtttctgaggctGgccatgcctcagcctgtgaa	9	10	13	9	0	2	3	1	3	1	0	2	4	2	4	3	3	2	2	3	3	2	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.780G>T	p.=	p.L260L	ENST00000398290	5/6	121	71	50	88	88	0	strelka-varscan-mutect	TRIM77,synonymous_variant,p.=,ENST00000398290,NM_001146162.1,NM_001271942.1;TRIM77,synonymous_variant,p.=,ENST00000534392,;	T	ENST00000398290	Transcript	synonymous_variant	780/1353	780/1353	260/450	L	ctG/ctT		1		1	TRIM77	HGNC	HGNC:34228	protein_coding	YES	CCDS60929.1	ENSP00000474003	I1YAP6		UPI00001607F2	NM_001146162.1,NM_001271942.1			5/6		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF353																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	51	89715908	89715908	G	T	1	0	0	0	0	0	0	0	1	17044	1335	47	2		2	TRIM77	11	89715908	Silent	SNP	G	C3N-00549_TP	1125192	89715908	45370714	266	16456											
TRIM64	0	.	GRCh38	chr11	89971255	89971255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagaaatgtatcagcaaGgtgattttacactaaaaaaa	18	11	8	4	0	1	2	1	2	0	1	1	3	1	2	0	1	2	2	0	1	8	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.758G>A	p.Arg253Lys	p.R253K	ENST00000533122	4/6	83	55	28	52	52	0	strelka-varscan-mutect	TRIM64,missense_variant,p.Arg253Lys,ENST00000533122,NM_001136486.1;	A	ENST00000533122	Transcript	missense_variant,splice_region_variant	760/2691	758/1350	253/449	R/K	aGg/aAg		1		1	TRIM64	HGNC	HGNC:14663	protein_coding	YES	CCDS73363.1	ENSP00000483764	A6NGJ6		UPI0001662601	NM_001136486.1	tolerated(0.15)		4/6		hmmpanther:PTHR24103:SF354,hmmpanther:PTHR24103																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	89971255	89971255	G	A	1	0	0	0	0	1	0	0	0	17031	1014	35	3		3	TRIM64	11	89971255	Missense_Mutation	SNP	G	C3N-00549_TP	255347	89971255	45115367	267	16457											
CNTN5	0	.	GRCh38	chr11	99916116	99916116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagggaaggccagggtgtcGttctgatgtgctctcctccg	5	11	15	10	2	2	2	0	2	2	0	5	3	3	3	3	3	1	2	3	3	1	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.640G>T	p.Val214Phe	p.V214F	ENST00000524871	7/25	187	123	64	178	178	0	strelka-varscan-mutect	CNTN5,missense_variant,p.Val214Phe,ENST00000524871,NM_014361.3;CNTN5,missense_variant,p.Val198Phe,ENST00000279463,;CNTN5,missense_variant,p.Val136Phe,ENST00000619298,;CNTN5,missense_variant,p.Val214Phe,ENST00000527185,NM_001243271.1;CNTN5,missense_variant,p.Val214Phe,ENST00000528682,NM_001243270.1;CNTN5,missense_variant,p.Val140Phe,ENST00000418526,NM_175566.2;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	T	ENST00000524871	Transcript	missense_variant	930/6258	640/3303	214/1100	V/F	Gtt/Ttt		1		1	CNTN5	HGNC	HGNC:2175	protein_coding	YES	CCDS53696.1	ENSP00000435637	O94779		UPI000006DAB0	NM_014361.3	deleterious(0)		7/25		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs953993946	.												T	3	4	51	99916116	99916116	G	T	1	0	0	0	0	1	0	0	0	3425	1145	40	1		1	CNTN5	11	99916116	Missense_Mutation	SNP	G	C3N-00549_TP	9944861	99916116	35170506	268	16458											
CNTN5	0	.	GRCh38	chr11	100350808	100350808	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agtctatattattgaagttcGagcatatagtgaaggaggag	14	12	12	3	1	1	2	0	2	1	0	2	5	1	4	0	2	1	2	0	2	7	7	rs781672395		C3N-00549_TP	C3N-00549_NB	G	G																c.3137G>C	p.Arg1046Pro	p.R1046P	ENST00000524871	24/25	109	74	35	106	106	0	strelka-varscan-mutect	CNTN5,missense_variant,p.Arg1046Pro,ENST00000524871,NM_014361.3;CNTN5,missense_variant,p.Arg1030Pro,ENST00000279463,;CNTN5,missense_variant,p.Arg968Pro,ENST00000619298,;CNTN5,missense_variant,p.Arg1046Pro,ENST00000528682,NM_001243270.1;CNTN5,missense_variant,p.Arg972Pro,ENST00000418526,NM_175566.2;CNTN5,non_coding_transcript_exon_variant,,ENST00000524560,;	C	ENST00000524871	Transcript	missense_variant	3427/6258	3137/3303	1046/1100	R/P	cGa/cCa	rs781672395	1		1	CNTN5	HGNC	HGNC:2175	protein_coding	YES	CCDS53696.1	ENSP00000435637	O94779		UPI000006DAB0	NM_014361.3	deleterious(0)		24/25		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs781672395	.												C	3	2	51	100350808	100350808	G	C	1	0	0	0	0	1	0	0	0	3425	1058	37	4		4	CNTN5	11	100350808	Missense_Mutation	SNP	G	C3N-00549_TP	434692	100350808	34735814	269	16459											
DYNC2H1	0	.	GRCh38	chr11	103158977	103158977	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattagaaatattgggccAgtctaccaacccatcagtga	13	11	7	10	0	2	2	1	1	1	1	2	2	2	2	3	1	2	0	3	1	6	5	rs766791709		C3N-00549_TP	C3N-00549_NB	A	A																c.4328A>T	p.Gln1443Leu	p.Q1443L	ENST00000398093	28/90	198	131	67	219	218	1	strelka-varscan-mutect	DYNC2H1,missense_variant,p.Gln1443Leu,ENST00000375735,NM_001377.2;DYNC2H1,missense_variant,p.Gln1443Leu,ENST00000398093,NM_001080463.1;DYNC2H1,intron_variant,,ENST00000334267,;	T	ENST00000398093	Transcript	missense_variant	4328/12945	4328/12945	1443/4314	Q/L	cAg/cTg	rs766791709	1		1	DYNC2H1	HGNC	HGNC:2962	protein_coding	YES	CCDS44717.1	ENSP00000381167	Q8NCM8		UPI0000481AC7	NM_001080463.1	deleterious(0)		28/90		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF282,Pfam_domain:PF08393																	MODERATE	1	SNV	5			1										PASS		rs766791709	.												T	3	4	51	103158977	103158977	A	T	1	0	0	0	0	1	0	0	0	4670	188	7	4		4	DYNC2H1	11	103158977	Missense_Mutation	SNP	A	C3N-00549_TP	2808169	103158977	31927645	270	16460											
ALKBH8	0	.	GRCh38	chr11	107532390	107532390	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcaatgccatctgggtgcTtaaaatccatgacaatcttg	11	12	8	10	0	2	1	0	1	2	0	3	1	3	1	2	1	3	2	2	1	4	2	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.797A>G	p.Lys266Arg	p.K266R	ENST00000417449	8/12	192	130	62	143	143	0	strelka-varscan-mutect	ALKBH8,missense_variant,p.Lys263Arg,ENST00000428149,NM_138775.2;ALKBH8,missense_variant,p.Lys263Arg,ENST00000389568,;ALKBH8,missense_variant,p.Lys266Arg,ENST00000417449,NM_001301010.1;ALKBH8,intron_variant,,ENST00000429370,;ALKBH8,stop_retained_variant,p.=,ENST00000260318,;ALKBH8,3_prime_UTR_variant,,ENST00000393100,;	C	ENST00000417449	Transcript	missense_variant	907/2114	797/2004	266/667	K/R	aAg/aGg		1		-1	ALKBH8	HGNC	HGNC:25189	protein_coding	YES	CCDS73376.1	ENSP00000397673	Q96BT7		UPI00017A6D55	NM_001301010.1	tolerated(0.48)		8/12		PROSITE_profiles:PS51471,hmmpanther:PTHR13069,hmmpanther:PTHR13069:SF28,Gene3D:3i3qA00,Pfam_domain:PF13532,Superfamily_domains:SSF51197																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	51	107532390	107532390	T	C	1	0	0	0	0	1	0	0	0	633	1609	56	5		5	ALKBH8	11	107532390	Missense_Mutation	SNP	T	C3N-00549_TP	4373413	107532390	27554232	271	16461											
UBE4A	0	.	GRCh38	chr11	118372534	118372534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagttccagagaacctgctaCcctttgcagtgcagtgcaga	11	9	10	11	0	0	2	0	0	0	2	1	3	1	2	3	0	6	5	3	0	3	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.589C>T	p.Pro197Ser	p.P197S	ENST00000431736	6/20	96	53	43	128	127	1	strelka-varscan-mutect	UBE4A,missense_variant,p.Pro197Ser,ENST00000252108,NM_001204077.1;UBE4A,missense_variant,p.Pro197Ser,ENST00000431736,NM_004788.3;	T	ENST00000431736	Transcript	missense_variant	661/6061	589/3222	197/1073	P/S	Ccc/Tcc		1		1	UBE4A	HGNC	HGNC:12499	protein_coding	YES	CCDS8396.1	ENSP00000387362	Q14139		UPI000013CD3F	NM_004788.3	tolerated(0.94)		6/20		hmmpanther:PTHR13931:SF2,hmmpanther:PTHR13931																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	118372534	118372534	C	T	1	0	0	0	0	1	0	0	0	17406	507	18	3		3	UBE4A	11	118372534	Missense_Mutation	SNP	C	C3N-00549_TP	10840144	118372534	16714088	272	16462											
TECTA	0	.	GRCh38	chr11	121125570	121125570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctgggagagagctggcGtgtgtaccacgcagactgga	9	7	17	8	2	1	2	0	0	1	2	1	6	1	5	1	4	2	3	1	4	1	1	rs760011660		C3N-00549_TP	C3N-00549_NB	G	G																c.1472G>A	p.Arg491His	p.R491H	ENST00000392793	8/24	238	133	105	163	163	0	strelka-varscan-mutect	TECTA,missense_variant,p.Arg491His,ENST00000392793,;TECTA,missense_variant,p.Arg491His,ENST00000264037,NM_005422.2;	A	ENST00000392793	Transcript	missense_variant	1743/7426	1472/6468	491/2155	R/H	cGt/cAt	rs760011660,COSM273725	1		1	TECTA	HGNC	HGNC:11720	protein_coding	YES	CCDS8434.1	ENSP00000376543	O75443		UPI000045659D		deleterious(0.01)		8/24		PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF235,hmmpanther:PTHR11339											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs760011660	.												A	3	1	51	121125570	121125570	G	A	1	0	0	0	0	1	0	0	0	16158	1145	40	1		1	TECTA	11	121125570	Missense_Mutation	SNP	G	C3N-00549_TP	2753036	121125570	13961052	273	16463											
SPATA19	0	.	GRCh38	chr11	133842523	133842523	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgatctcgcatgatgtcCtctgtcatctcacttggcac	7	14	7	13	2	4	1	2	1	3	0	8	2	5	1	1	1	0	2	1	1	0	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.399G>T	p.Glu133Asp	p.E133D	ENST00000299140	5/7	187	131	56	152	152	0	strelka-varscan-mutect	SPATA19,missense_variant,p.Glu133Asp,ENST00000299140,NM_001291992.1,NM_174927.2;SPATA19,missense_variant,p.Glu133Asp,ENST00000532889,;	A	ENST00000299140	Transcript	missense_variant	454/861	399/504	133/167	E/D	gaG/gaT		1		-1	SPATA19	HGNC	HGNC:30614	protein_coding	YES	CCDS8493.1	ENSP00000299140	Q7Z5L4	A0A140VKB6	UPI000007021D	NM_001291992.1,NM_174927.2	tolerated(1)		5/7		hmmpanther:PTHR36468,Pfam_domain:PF15212																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	133842523	133842523	C	A	1	0	0	0	0	1	0	0	0	15334	680	24	2		2	SPATA19	11	133842523	Missense_Mutation	SNP	C	C3N-00549_TP	12716953	133842523	1244099	274	16464											
TSPAN9	0	.	GRCh38	chr12	3281905	3281905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaagtgaaagcagtgttgGtacacggcggagggtctgga	11	7	18	5	2	1	2	0	1	1	1	1	5	1	4	0	5	2	3	0	5	3	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.736G>T	p.Val246Leu	p.V246L	ENST00000407263	6/6	539	360	179	323	322	1	strelka-varscan-mutect	TSPAN9,missense_variant,p.Val246Leu,ENST00000407263,;TSPAN9,intron_variant,,ENST00000011898,NM_006675.4;TSPAN9,intron_variant,,ENST00000537971,NM_001168320.1;TSPAN9,downstream_gene_variant,,ENST00000492305,;TSPAN9,downstream_gene_variant,,ENST00000431374,;TSPAN9,downstream_gene_variant,,ENST00000444315,;	T	ENST00000407263	Transcript	missense_variant	755/958	736/816	246/271	V/L	Gta/Tta		1		1	TSPAN9	HGNC	HGNC:21640	protein_coding			ENSP00000384488		B5MD23	UPI0001611390				6/6																			MODERATE		SNV	5			1										PASS		.	.												T	3	4	51	3281905	3281905	G	T	1	0	0	0	0	1	0	0	0	17159	1261	44	2		2	TSPAN9	12	3281905	Missense_Mutation	SNP	G	C3N-00549_TP		3281905	129993404	275	16465											
RAD51AP1	0	.	GRCh38	chr12	4541927	4541927	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtttgaccactctgacAgtgatggtaagtaaagcttc	12	11	9	9	0	1	3	0	3	1	0	2	3	1	3	1	1	1	4	1	1	3	4	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.61A>T	p.Ser21Cys	p.S21C	ENST00000228843	2/10	83	63	20	60	60	0	strelka-varscan-mutect	RAD51AP1,missense_variant,p.Ser21Cys,ENST00000228843,NM_001130862.1;RAD51AP1,missense_variant,p.Ser21Cys,ENST00000352618,NM_006479.4;RAD51AP1,missense_variant,p.Ser21Cys,ENST00000544927,;RAD51AP1,missense_variant,p.Ser16Cys,ENST00000536117,;C12orf4,upstream_gene_variant,,ENST00000261250,NM_020374.3,NM_001304811.1;C12orf4,upstream_gene_variant,,ENST00000545746,;C12orf4,upstream_gene_variant,,ENST00000541014,;C12orf4,upstream_gene_variant,,ENST00000542080,;RAD51AP1,missense_variant,p.Ser21Cys,ENST00000442992,;RAD51AP1,missense_variant,p.Ser21Cys,ENST00000535558,;RAD51AP1,missense_variant,p.Ser21Cys,ENST00000398012,;RAD51AP1,missense_variant,p.Ser21Cys,ENST00000536886,;RAD51AP1,missense_variant,p.Ser21Cys,ENST00000536346,;RAD51AP1,missense_variant,p.Ser21Cys,ENST00000538817,;RAD51AP1,missense_variant,p.Ser21Cys,ENST00000544110,;RAD51AP1,missense_variant,p.Ser15Cys,ENST00000544173,;RAD51AP1,upstream_gene_variant,,ENST00000544029,;C12orf4,upstream_gene_variant,,ENST00000544697,;C12orf4,upstream_gene_variant,,ENST00000535030,;	T	ENST00000228843	Transcript	missense_variant	111/2163	61/1059	21/352	S/C	Agt/Tgt		1		1	RAD51AP1	HGNC	HGNC:16956	protein_coding	YES	CCDS44805.1	ENSP00000228843	Q96B01		UPI000006DAE6	NM_001130862.1	deleterious(0.01)		2/10		hmmpanther:PTHR15361,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	4541927	4541927	A	T	1	0	0	0	0	1	0	0	0	13147	188	7	4		4	RAD51AP1	12	4541927	Missense_Mutation	SNP	A	C3N-00549_TP	1260022	4541927	128733382	276	16466											
CD163L1	0	.	GRCh38	chr12	7379278	7379278	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttccacccacaagccTcagctccatatccgatgcat	9	9	6	17	1	1	0	1	0	0	0	4	1	4	0	5	0	4	4	5	0	2	2	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.2101A>T	p.Arg701Trp	p.R701W	ENST00000416109	9/20	161	70	91	119	119	0	strelka-varscan-mutect	CD163L1,missense_variant,p.Arg691Trp,ENST00000313599,NM_174941.5;CD163L1,missense_variant,p.Arg701Trp,ENST00000416109,NM_001297650.1;CD163L1,upstream_gene_variant,,ENST00000544331,;	A	ENST00000416109	Transcript	missense_variant	2120/4603	2101/4392	701/1463	R/W	Agg/Tgg		1		-1	CD163L1	HGNC	HGNC:30375	protein_coding	YES	CCDS73434.1	ENSP00000393474	Q9NR16		UPI0001AE6A76	NM_001297650.1	deleterious(0)		9/20		PROSITE_profiles:PS50287,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	51	7379278	7379278	T	A	1	0	0	0	0	1	0	0	0	2671	1550	54	4		4	CD163L1	12	7379278	Missense_Mutation	SNP	T	C3N-00549_TP	2837351	7379278	125896031	277	16467											
PZP	0	.	GRCh38	chr12	9165365	9165365	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctcagccacacctgatGagctggggaggagggcaagt	10	6	14	11	0	1	2	1	2	0	0	1	4	1	4	3	4	3	2	3	4	2	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.2261C>A	p.Ser754Ter	p.S754*	ENST00000261336	19/36	219	146	73	141	141	0	strelka-varscan-mutect	PZP,stop_gained,p.Ser754Ter,ENST00000261336,NM_002864.2;PZP,splice_region_variant,,ENST00000539983,;PZP,splice_region_variant,,ENST00000546197,;PZP,splice_region_variant,,ENST00000543108,;PZP,splice_region_variant,,ENST00000540995,;PZP,downstream_gene_variant,,ENST00000546116,;PZP,splice_region_variant,,ENST00000535230,;	T	ENST00000261336	Transcript	stop_gained,splice_region_variant	2290/4610	2261/4449	754/1482	S/*	tCa/tAa		1		-1	PZP	HGNC	HGNC:9750	protein_coding	YES	CCDS8600.1	ENSP00000261336	P20742		UPI000013D168	NM_002864.2			19/36		Pfam_domain:PF00207,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF92,SMART_domains:SM01360																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	51	9165365	9165365	G	T	1	0	0	0	0	0	1	0	0	13025	1304	45	2		2	PZP	12	9165365	Nonsense_Mutation	SNP	G	C3N-00549_TP	1786087	9165365	124109944	278	16468											
CASC1	0	.	GRCh38	chr12	25149755	25149755	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggagtttccagtaaaataAatttcaatttctcaattaac	15	15	5	6	0	2	0	2	0	1	0	4	1	3	1	1	1	1	2	1	1	7	6	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.458T>G	p.Phe153Cys	p.F153C	ENST00000395987	7/16	118	62	56	83	83	0	strelka-varscan-mutect	CASC1,missense_variant,p.Phe211Cys,ENST00000354189,NM_001082972.1;CASC1,missense_variant,p.Phe107Cys,ENST00000395990,NM_001204102.1;CASC1,missense_variant,p.Phe153Cys,ENST00000395987,NM_018272.3;CASC1,missense_variant,p.Phe147Cys,ENST00000320267,NM_001082973.1;CASC1,missense_variant,p.Phe88Cys,ENST00000545133,NM_001204101.1;CASC1,missense_variant,p.Phe118Cys,ENST00000556006,;CASC1,downstream_gene_variant,,ENST00000554347,;CASC1,non_coding_transcript_exon_variant,,ENST00000557684,;CASC1,upstream_gene_variant,,ENST00000555554,;CASC1,3_prime_UTR_variant,,ENST00000554533,NM_001319977.1;CASC1,non_coding_transcript_exon_variant,,ENST00000556547,;CASC1,downstream_gene_variant,,ENST00000556467,;CASC1,downstream_gene_variant,,ENST00000555240,;	C	ENST00000395987	Transcript	missense_variant	524/2363	458/2169	153/722	F/C	tTt/tGt		1		-1	CASC1	HGNC	HGNC:29599	protein_coding	YES	CCDS31759.2	ENSP00000379310		F8W8F9	UPI00001FB7A4	NM_018272.3	deleterious(0.02)		7/16		Pfam_domain:PF15927,hmmpanther:PTHR20929																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	51	25149755	25149755	A	C	1	0	0	0	0	1	0	0	0	2359	14	1	5		5	CASC1	12	25149755	Missense_Mutation	SNP	A	C3N-00549_TP	15984390	25149755	108125554	279	16469											
BHLHE41	0	.	GRCh38	chr12	26124141	26124141	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattaattcggtctcttctTttcttttctattaatctgtg	6	23	4	8	1	6	0	1	0	5	0	8	0	6	0	0	1	0	0	0	1	3	9	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.165A>T	p.Lys55Asn	p.K55N	ENST00000242728	3/5	218	144	74	123	123	0	strelka-varscan-mutect	BHLHE41,missense_variant,p.Lys55Asn,ENST00000242728,NM_030762.2;SSPN,intron_variant,,ENST00000538142,;RP11-283G6.3,downstream_gene_variant,,ENST00000545819,;RP11-283G6.3,downstream_gene_variant,,ENST00000535914,;SSPN,intron_variant,,ENST00000534829,;BHLHE41,non_coding_transcript_exon_variant,,ENST00000541271,;BHLHE41,upstream_gene_variant,,ENST00000394326,;	A	ENST00000242728	Transcript	missense_variant	513/3837	165/1449	55/482	K/N	aaA/aaT		1		-1	BHLHE41	HGNC	HGNC:16617	protein_coding	YES	CCDS8706.1	ENSP00000242728	Q9C0J9	A0A024RAV8	UPI0000052B52	NM_030762.2	deleterious(0)		3/5		PROSITE_profiles:PS50888,hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF76,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353,Superfamily_domains:SSF47459																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	26124141	26124141	T	A	1	0	0	0	0	1	0	0	0	1572	1838	64	4		4	BHLHE41	12	26124141	Missense_Mutation	SNP	T	C3N-00549_TP	974386	26124141	107151168	280	16470											
PKP2	0	.	GRCh38	chr12	32896681	32896681	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccaggatctgctggccCaggacggtccggatgtagcc	6	8	14	13	2	1	0	0	0	1	0	3	3	3	3	4	5	2	2	4	5	1	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.51G>T	p.=	p.L17L	ENST00000070846	1/14	129	73	56	86	86	0	strelka-varscan-mutect	PKP2,synonymous_variant,p.=,ENST00000340811,NM_001005242.2;PKP2,synonymous_variant,p.=,ENST00000070846,NM_004572.3;PKP2,upstream_gene_variant,,ENST00000546741,;	A	ENST00000070846	Transcript	synonymous_variant	76/4241	51/2646	17/881	L	ctG/ctT		1		-1	PKP2	HGNC	HGNC:9024	protein_coding	YES	CCDS8731.1	ENSP00000070846	Q99959		UPI000013C576	NM_004572.3			1/14		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF25																	LOW	1	SNV	1			1										PASS		rs1251253044	.												A	2	1	51	32896681	32896681	C	A	1	0	0	0	0	0	0	0	1	12081	581	21	2		2	PKP2	12	32896681	Silent	SNP	C	C3N-00549_TP	6772540	32896681	100378628	281	16471											
PDZRN4	0	.	GRCh38	chr12	41188767	41188767	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgcacgtcgagcactgCgacttcggccctgcccgccg	5	5	14	17	7	0	0	0	0	0	0	2	3	0	0	3	2	3	2	3	2	0	1			C3N-00549_TP	C3N-00549_NB	C	C																c.312C>G	p.Cys104Trp	p.C104W	ENST00000402685	1/10	45	25	20	50	50	0	strelka-varscan-mutect	PDZRN4,missense_variant,p.Cys104Trp,ENST00000402685,NM_001164595.1;	G	ENST00000402685	Transcript	missense_variant	320/3347	312/3111	104/1036	C/W	tgC/tgG	COSM4652238	1		1	PDZRN4	HGNC	HGNC:30552	protein_coding	YES	CCDS53777.1	ENSP00000384197	Q6ZMN7		UPI0000D621D0	NM_001164595.1	deleterious_low_confidence(0)		1/10		Gene3D:1k2fA02,Superfamily_domains:SSF49599											1						MODERATE	1	SNV	2		1	1										PASS		rs954361223	.												G	3	3	51	41188767	41188767	C	G	1	0	0	0	0	1	0	0	0	11798	776	27	4		4	PDZRN4	12	41188767	Missense_Mutation	SNP	C	C3N-00549_TP	8292086	41188767	92086542	282	16472											
ADAMTS20	0	.	GRCh38	chr12	43551255	43551255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacttcgtaggaggtcagtGtcctcaccagggcttctgca	7	11	11	12	1	3	0	2	0	1	0	5	1	4	1	2	3	2	3	2	3	2	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.107C>G	p.Thr36Arg	p.T36R	ENST00000389420	2/39	96	49	47	81	81	0	strelka-varscan-mutect	ADAMTS20,missense_variant,p.Thr36Arg,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Thr36Arg,ENST00000395541,;ADAMTS20,missense_variant,p.Thr36Arg,ENST00000553158,;	C	ENST00000389420	Transcript	missense_variant	107/6076	107/5733	36/1910	T/R	aCa/aGa		1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3	tolerated(0.07)		2/39																			MODERATE	1	SNV	1			1										PASS		rs1295649822	.												C	3	2	51	43551255	43551255	G	C	1	0	0	0	0	1	0	0	0	310	1377	48	4		4	ADAMTS20	12	43551255	Missense_Mutation	SNP	G	C3N-00549_TP	2362488	43551255	89724054	283	16473											
KRT1	0	.	GRCh38	chr12	52675279	52675279	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacacccccagagctggatcCccggcctcctatggagcctc	7	6	10	18	1	0	1	0	0	0	1	3	4	2	3	7	3	2	1	7	3	1	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1849G>T	p.Gly617Ter	p.G617*	ENST00000252244	9/9	706	364	342	543	543	0	strelka-varscan-mutect	KRT1,stop_gained,p.Gly617Ter,ENST00000252244,NM_006121.3;KRT1,downstream_gene_variant,,ENST00000548765,;	A	ENST00000252244	Transcript	stop_gained	1908/2451	1849/1935	617/644	G/*	Gga/Tga		1		-1	KRT1	HGNC	HGNC:6412	protein_coding	YES	CCDS8836.1	ENSP00000252244	P04264		UPI000013CD4D	NM_006121.3			9/9		Low_complexity_(Seg):seg,Pfam_domain:PF16210																	HIGH	1	SNV	1			1										PASS		rs1336433142	.												A	4	1	51	52675279	52675279	C	A	1	0	0	0	0	0	1	0	0	8329	632	22	2		2	KRT1	12	52675279	Nonsense_Mutation	SNP	C	C3N-00549_TP	9124024	52675279	80600030	284	16474											
RARG	0	.	GRCh38	chr12	53215387	53215387	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgatacagtttttgtcgcgGtgacacgtgtacaccatgtt	9	14	10	8	3	0	2	0	2	0	0	1	2	0	2	1	1	2	3	1	1	2	5	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.381C>T	p.=	p.H127H	ENST00000425354	5/10	321	213	108	302	302	0	strelka-varscan-mutect	RARG,synonymous_variant,p.=,ENST00000425354,NM_000966.5;RARG,synonymous_variant,p.=,ENST00000394426,NM_001243730.1,NM_001243731.1;RARG,synonymous_variant,p.=,ENST00000338561,NM_001042728.2;RARG,synonymous_variant,p.=,ENST00000543726,NM_001243732.1;RARG,non_coding_transcript_exon_variant,,ENST00000543762,;RARG,non_coding_transcript_exon_variant,,ENST00000550265,;RARG,non_coding_transcript_exon_variant,,ENST00000548284,;RARG,upstream_gene_variant,,ENST00000551580,;RARG,upstream_gene_variant,,ENST00000548317,;	A	ENST00000425354	Transcript	synonymous_variant	869/2959	381/1365	127/454	H	caC/caT		1		-1	RARG	HGNC	HGNC:9866	protein_coding	YES	CCDS8850.1	ENSP00000388510	P13631	A8K3H3	UPI000000105D	NM_000966.5			5/10		PROSITE_profiles:PS51030,hmmpanther:PTHR24082:SF116,hmmpanther:PTHR24082,Gene3D:3.30.50.10,Pfam_domain:PF00105,SMART_domains:SM00399,Superfamily_domains:SSF57716																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	51	53215387	53215387	G	A	1	0	0	0	0	0	0	0	1	13213	1252	44	3		3	RARG	12	53215387	Silent	SNP	G	C3N-00549_TP	540108	53215387	80059922	285	16475											
HOXC4	0	.	GRCh38	chr12	54054155	54054155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctccaggggcccggcaattCgcgaggccacgggccggccc	5	4	15	17	5	1	0	0	0	1	0	3	1	1	0	5	6	0	1	5	6	1	1	rs751434557		C3N-00549_TP	C3N-00549_NB	C	C																c.233C>G	p.Ser78Trp	p.S78W	ENST00000430889	1/2	491	243	248	360	360	0	strelka-varscan-mutect	HOXC4,missense_variant,p.Ser78Trp,ENST00000430889,NM_153633.2;HOXC4,missense_variant,p.Ser78Trp,ENST00000303406,NM_014620.5;FLJ12825,upstream_gene_variant,,ENST00000515617,;HOXC4,downstream_gene_variant,,ENST00000507650,;	G	ENST00000430889	Transcript	missense_variant	279/1666	233/795	78/264	S/W	tCg/tGg	rs751434557	1		1	HOXC4	HGNC	HGNC:5126	protein_coding	YES	CCDS8873.1	ENSP00000399808	P09017	A0A024RB51	UPI000013E89C	NM_153633.2	tolerated(0.1)		1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF161																	MODERATE	1	SNV	1			1										PASS		rs751434557	.												G	3	3	51	54054155	54054155	C	G	1	0	0	0	0	1	0	0	0	7207	893	31	4		4	HOXC4	12	54054155	Missense_Mutation	SNP	C	C3N-00549_TP	838768	54054155	79221154	286	16476											
OR6C4	0	.	GRCh38	chr12	55551412	55551412	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccatgtatttcttcctccgGaatttctccttcttagaaat	8	17	4	12	1	3	1	0	0	3	1	6	2	5	2	4	1	0	1	4	1	4	6	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.186G>T	p.=	p.R62R	ENST00000394256	1/1	156	88	68	183	183	0	strelka-varscan-mutect	OR6C4,synonymous_variant,p.=,ENST00000394256,NM_001005494.1;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000555138,;	T	ENST00000394256	Transcript	synonymous_variant	214/1046	186/930	62/309	R	cgG/cgT		1		1	OR6C4	HGNC	HGNC:19632	protein_coding	YES	CCDS31827.1	ENSP00000377799	Q8NGE1		UPI000004A282	NM_001005494.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454:SF9,hmmpanther:PTHR26454,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW		SNV				1										PASS		.	.												T	2	4	51	55551412	55551412	G	T	1	0	0	0	0	0	0	0	1	11261	1161	41	2		2	OR6C4	12	55551412	Silent	SNP	G	C3N-00549_TP	1497257	55551412	77723897	287	16477											
SLC26A10	0	.	GRCh38	chr12	57624038	57624038	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaacatctccagcatgcgCcaggtgttctgccagatgca	10	9	9	13	1	3	1	1	0	2	1	4	1	3	1	3	1	5	3	3	1	1	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1167C>A	p.=	p.R389R	ENST00000320442	9/14	69	47	22	92	92	0	strelka-varscan-mutect	SLC26A10,synonymous_variant,p.=,ENST00000320442,NM_133489.2;B4GALNT1,downstream_gene_variant,,ENST00000341156,NM_001478.4;B4GALNT1,downstream_gene_variant,,ENST00000418555,NM_001276468.1;B4GALNT1,downstream_gene_variant,,ENST00000449184,;B4GALNT1,downstream_gene_variant,,ENST00000547741,;SLC26A10,downstream_gene_variant,,ENST00000637859,;AC025165.8,upstream_gene_variant,,ENST00000593846,;ARHGEF25,downstream_gene_variant,,ENST00000477314,;SLC26A10,upstream_gene_variant,,ENST00000490243,;SLC26A10,upstream_gene_variant,,ENST00000483647,;SLC26A10,synonymous_variant,p.=,ENST00000474359,;SLC26A10,synonymous_variant,p.=,ENST00000440686,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000553142,;SLC26A10,non_coding_transcript_exon_variant,,ENST00000487816,;B4GALNT1,downstream_gene_variant,,ENST00000552468,;B4GALNT1,downstream_gene_variant,,ENST00000552798,;B4GALNT1,downstream_gene_variant,,ENST00000549391,;SLC26A10,upstream_gene_variant,,ENST00000474791,;SLC26A10,downstream_gene_variant,,ENST00000497297,;SLC26A10,downstream_gene_variant,,ENST00000463802,;	A	ENST00000320442	Transcript	synonymous_variant	1478/2389	1167/1692	389/563	R	cgC/cgA		1		1	SLC26A10	HGNC	HGNC:14470	protein_coding	YES	CCDS8949.2	ENSP00000320217	Q8NG04		UPI000007059E	NM_133489.2			9/14		hmmpanther:PTHR11814:SF99,hmmpanther:PTHR11814,Pfam_domain:PF00916																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	51	57624038	57624038	C	A	1	0	0	0	0	0	0	0	1	14785	726	26	2		2	SLC26A10	12	57624038	Silent	SNP	C	C3N-00549_TP	2072626	57624038	75651271	288	16478											
MSRB3	0	.	GRCh38	chr12	65369020	65369020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaccaaatttgactccGgttcaggtatgtttacatta	13	13	7	8	1	1	2	1	1	0	1	2	2	2	2	2	2	2	3	2	2	5	6	rs542501613		C3N-00549_TP	C3N-00549_NB	G	G																c.307G>T	p.Gly103Cys	p.G103C	ENST00000355192	4/6	155	86	69	108	108	0	strelka-varscan-mutect	MSRB3,missense_variant,p.Gly96Cys,ENST00000308259,NM_001031679.2,NM_001193460.1;MSRB3,missense_variant,p.Gly103Cys,ENST00000355192,NM_198080.3;MSRB3,missense_variant,p.Gly96Cys,ENST00000614640,NM_001193461.1;MSRB3,missense_variant,p.Gly96Cys,ENST00000535664,;MSRB3,missense_variant,p.Gly103Cys,ENST00000540804,;MSRB3,missense_variant,p.Gly96Cys,ENST00000535239,;MSRB3,missense_variant,p.Gly112Cys,ENST00000541189,;MSRB3,missense_variant,p.Gly96Cys,ENST00000538045,;MSRB3,missense_variant,p.Gly55Cys,ENST00000446731,;MSRB3,non_coding_transcript_exon_variant,,ENST00000535143,;MSRB3,3_prime_UTR_variant,,ENST00000541897,;	T	ENST00000355192	Transcript	missense_variant	433/4289	307/579	103/192	G/C	Ggt/Tgt	rs542501613,COSM4044187,COSM4044188	1		1	MSRB3	HGNC	HGNC:27375	protein_coding	YES	CCDS8973.1	ENSP00000347324	Q8IXL7		UPI0000051E32	NM_198080.3	deleterious(0)		4/6		HAMAP:MF_01400,hmmpanther:PTHR10173,hmmpanther:PTHR10173:SF18,Pfam_domain:PF01641,Gene3D:2.170.150.20,TIGRFAM_domain:TIGR00357,Superfamily_domains:SSF51316											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs542501613	.												T	3	4	51	65369020	65369020	G	T	1	0	0	0	0	1	0	0	0	9873	1116	39	1		1	MSRB3	12	65369020	Missense_Mutation	SNP	G	C3N-00549_TP	7744982	65369020	67906289	289	16479											
CAND1	0	.	GRCh38	chr12	67305243	67305243	+	Silent	SNP	G	G	T																															gctttggttcctccagtggtGgcttgtgttggagacccatt																								novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1575G>T	p.=	p.V525V	ENST00000545606	10/15	277	228	49	260	259	1	strelka-varscan-mutect	CAND1,synonymous_variant,p.=,ENST00000545606,NM_018448.4;CAND1,intron_variant,,ENST00000544619,;CAND1,synonymous_variant,p.=,ENST00000540319,;	T	ENST00000545606	Transcript	synonymous_variant	2012/11251	1575/3693	525/1230	V	gtG/gtT		1		1	CAND1	HGNC	HGNC:30688	protein_coding	YES	CCDS8977.1	ENSP00000442318	Q86VP6		UPI0000037CC5	NM_018448.4			10/15		hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF1,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	51	67305243	67305243	G	T	1	0	0	0	0	0	0	0	1	2308	1335	47	2		2	CAND1	12	67305243	Silent	SNP	G	C3N-00549_TP	1936223	67305243	65970066	290	16480	356	2									
CAND1	0	.	GRCh38	chr12	67305244	67305244	+	Missense_Mutation	SNP	G	G	T																															ctttggttcctccagtggtgGcttgtgttggagacccattt																								novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1576G>T	p.Ala526Ser	p.A526S	ENST00000545606	10/15	281	232	49	262	262	0	strelka-varscan-mutect	CAND1,missense_variant,p.Ala526Ser,ENST00000545606,NM_018448.4;CAND1,intron_variant,,ENST00000544619,;CAND1,missense_variant,p.Ala408Ser,ENST00000540319,;	T	ENST00000545606	Transcript	missense_variant	2013/11251	1576/3693	526/1230	A/S	Gct/Tct		1		1	CAND1	HGNC	HGNC:30688	protein_coding	YES	CCDS8977.1	ENSP00000442318	Q86VP6		UPI0000037CC5	NM_018448.4	tolerated(0.37)		10/15		hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF1,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	67305244	67305244	G	T	1	0	0	0	0	1	0	0	0	2308	1203	42	2		2	CAND1	12	67305244	Missense_Mutation	SNP	G	C3N-00549_TP	1	67305244	65970065	291	16481	356	2									
KCNMB4	0	.	GRCh38	chr12	70400228	70400228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcctatatccctccctGtaagagagaaaatcagaaga	14	9	8	10	0	1	4	1	0	0	4	4	5	4	4	3	0	1	2	3	0	6	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.356G>T	p.Cys119Phe	p.C119F	ENST00000258111	2/3	82	40	42	71	71	0	strelka-varscan-mutect	KCNMB4,missense_variant,p.Cys119Phe,ENST00000258111,NM_014505.5;KCNMB4,missense_variant,p.Cys7Phe,ENST00000531884,;	T	ENST00000258111	Transcript	missense_variant	815/4731	356/633	119/210	C/F	tGt/tTt		1		1	KCNMB4	HGNC	HGNC:6289	protein_coding	YES	CCDS8997.1	ENSP00000258111	Q86W47		UPI0000073E0E	NM_014505.5	deleterious(0.02)		2/3		hmmpanther:PTHR10258,hmmpanther:PTHR10258:SF3,Pfam_domain:PF03185																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	70400228	70400228	G	T	1	0	0	0	0	1	0	0	0	7993	1377	48	2		2	KCNMB4	12	70400228	Missense_Mutation	SNP	G	C3N-00549_TP	3094984	70400228	62875081	292	16482											
TRHDE	0	.	GRCh38	chr12	72272781	72272781	+	Frame_Shift_Del	DEL	G	G	-																															tcacccttcgcagccgcgatGggggaagacgacgccgcgct																								novel		C3N-00549_TP	C3N-00549_NB	G	G																c.7delG	p.Glu3LysfsTer143	p.E3Kfs*143	ENST00000261180	1/19	53	29	24	36	36	0	sindel-varindel-pindel	TRHDE,frameshift_variant,p.Glu3LysfsTer143,ENST00000261180,NM_013381.2;TRHDE,upstream_gene_variant,,ENST00000547300,;TRHDE-AS1,non_coding_transcript_exon_variant,,ENST00000426250,;TRHDE-AS1,upstream_gene_variant,,ENST00000435350,;TRHDE-AS1,upstream_gene_variant,,ENST00000550334,;TRHDE,intron_variant,,ENST00000548156,;TRHDE,upstream_gene_variant,,ENST00000552503,;	-	ENST00000261180	Transcript	frameshift_variant,start_lost	99/10733	3/3075	1/1024	M/X	atG/at		1		1	TRHDE	HGNC	HGNC:30748	protein_coding	YES	CCDS9004.1	ENSP00000261180	Q9UKU6		UPI0000136D52	NM_013381.2			1/19																			HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	51	72272781	72272781	G	-	1	0	1	0	1	0	0	0	0	16968	1348	47	0		0	TRHDE	12	72272781	Frame_Shift_Del	DEL	G	C3N-00549_TP	1872553	72272781	61002528	293	16483											
E2F7	0	.	GRCh38	chr12	77064557	77064557	+	Frame_Shift_Del	DEL	C	C	-																															gcttaccttttgtgcattttCcccatcttcaactgcaaaat																										C3N-00549_TP	C3N-00549_NB	C	C																c.79delG	p.Glu27LysfsTer21	p.E27Kfs*21	ENST00000322886	2/13	228	156	72	196	196	0	sindel-varindel-pindel	E2F7,frameshift_variant,p.Glu27LysfsTer21,ENST00000322886,NM_203394.2;E2F7,frameshift_variant,p.Glu27LysfsTer21,ENST00000416496,;E2F7,frameshift_variant,p.Glu27LysfsTer21,ENST00000550669,;E2F7,frameshift_variant,p.Glu27LysfsTer21,ENST00000547316,;E2F7,non_coding_transcript_exon_variant,,ENST00000551558,;	-	ENST00000322886	Transcript	frameshift_variant	315/5740	79/2736	27/911	E/X	Gaa/aa	COSM1299876,COSM1299877	1		-1	E2F7	HGNC	HGNC:23820	protein_coding	YES	CCDS9016.1	ENSP00000323246	Q96AV8		UPI00001B64A1	NM_203394.2			2/13		hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF25											1,1						HIGH	1	deletion	1		1,1	1										PASS		.	.												-	7	5	51	77064557	77064557	C	-	1	0	1	0	1	0	0	0	0	4696	864	30	0		0	E2F7	12	77064557	Frame_Shift_Del	DEL	C	C3N-00549_TP	4791776	77064557	56210752	294	16484											
OTOGL	0	.	GRCh38	chr12	80253475	80253475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaattaggcctcgtaaTggacaatgggacttgcatct	10	13	9	9	1	2	0	1	0	2	0	4	2	2	2	1	3	1	2	1	3	4	4	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.1268T>C	p.Met423Thr	p.M423T	ENST00000458043	13/58	177	112	65	134	134	0	strelka-varscan-mutect	OTOGL,missense_variant,p.Met423Thr,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Met423Thr,ENST00000547103,;	C	ENST00000458043	Transcript	missense_variant	1274/8083	1268/7035	423/2344	M/T	aTg/aCg		1		1	OTOGL	HGNC	HGNC:26901	protein_coding	YES		ENSP00000400895		A0A0A0MSS2	UPI0001D089C5	NM_173591.3	deleterious(0.03)		13/58		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF225,Gene3D:2.10.25.10,Superfamily_domains:SSF57567																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	51	80253475	80253475	T	C	1	0	0	0	0	1	0	0	0	11371	1464	51	5		5	OTOGL	12	80253475	Missense_Mutation	SNP	T	C3N-00549_TP	3188918	80253475	53021834	295	16485											
MYF6	0	.	GRCh38	chr12	80708201	80708201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagaagatgcaggagctggGggtggaccccttcagctaca	10	6	16	9	0	1	2	1	0	0	2	1	5	1	4	2	5	4	3	2	5	2	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.482G>A	p.Gly161Glu	p.G161E	ENST00000228641	1/3	132	122	10	109	108	1	varscan-mutect	MYF6,missense_variant,p.Gly161Glu,ENST00000228641,NM_002469.2;	A	ENST00000228641	Transcript	missense_variant	704/1465	482/729	161/242	G/E	gGg/gAg		1		1	MYF6	HGNC	HGNC:7566	protein_coding	YES	CCDS9019.1	ENSP00000228641	P23409		UPI0000001050	NM_002469.2	tolerated(0.34)		1/3		hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF4,Superfamily_domains:SSF47459																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	80708201	80708201	G	A	1	0	0	0	0	1	0	0	0	10028	1232	43	3		3	MYF6	12	80708201	Missense_Mutation	SNP	G	C3N-00549_TP	454726	80708201	52567108	296	16486											
MYF5	0	.	GRCh38	chr12	80719010	80719010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgattcacagcctgcaactCcaggggcttctagttccagg	8	9	10	14	1	2	0	1	0	1	0	4	1	4	0	4	3	3	3	4	3	2	4	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.727C>A	p.Pro243Thr	p.P243T	ENST00000228644	3/3	245	163	82	190	190	0	strelka-varscan-mutect	MYF5,missense_variant,p.Pro243Thr,ENST00000228644,NM_005593.2;	A	ENST00000228644	Transcript	missense_variant	879/1542	727/768	243/255	P/T	Cca/Aca		1		1	MYF5	HGNC	HGNC:7565	protein_coding	YES	CCDS9020.1	ENSP00000228644	P13349		UPI000013C8D9	NM_005593.2	tolerated(0.09)		3/3		hmmpanther:PTHR11534:SF3,hmmpanther:PTHR11534																	MODERATE	1	SNV	1			1										PASS		rs1187358892	.												A	3	1	51	80719010	80719010	C	A	1	0	0	0	0	1	0	0	0	10027	855	30	2		2	MYF5	12	80719010	Missense_Mutation	SNP	C	C3N-00549_TP	10809	80719010	52556299	297	16487											
PPFIA2	0	.	GRCh38	chr12	81597973	81597973	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaaagtgtaaaaccgggtCccattaggaggatgcacttt	13	10	11	7	1	0	1	0	1	0	0	1	3	1	3	2	3	2	2	2	3	5	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.60G>T	p.=	p.G20G	ENST00000333447	1/29	215	112	103	237	235	2	strelka-varscan-mutect	PPFIA2,synonymous_variant,p.=,ENST00000333447,NM_001220478.2;PPFIA2,synonymous_variant,p.=,ENST00000407050,NM_001220477.2;PPFIA2,synonymous_variant,p.=,ENST00000443686,;PPFIA2,intron_variant,,ENST00000550584,NM_001220473.2;PPFIA2,intron_variant,,ENST00000549396,NM_003625.4;PPFIA2,intron_variant,,ENST00000549325,NM_001220474.2;PPFIA2,intron_variant,,ENST00000548586,NM_001220476.2;PPFIA2,intron_variant,,ENST00000552948,NM_001220475.2;PPFIA2,intron_variant,,ENST00000551442,;PPFIA2,intron_variant,,ENST00000547623,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000545296,;PPFIA2,intron_variant,,ENST00000552020,;	A	ENST00000333447	Transcript	synonymous_variant	399/5517	60/3459	20/1152	G	ggG/ggT		1		-1	PPFIA2	HGNC	HGNC:9246	protein_coding		CCDS55852.1	ENSP00000327416	O75334		UPI0002065590	NM_001220478.2			1/29																			LOW		SNV	5			1										PASS		rs891593191	.												A	2	1	51	81597973	81597973	C	A	1	0	0	0	0	0	0	0	1	12419	842	30	2		2	PPFIA2	12	81597973	Silent	SNP	C	C3N-00549_TP	878963	81597973	51677336	298	16488											
CEP290	0	.	GRCh38	chr12	88117074	88117074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttttgaggctcaataaatCcaattttctttcacttattc	11	19	3	8	0	3	1	2	1	1	0	5	1	4	1	1	1	0	1	1	1	5	8	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1783G>T	p.Asp595Tyr	p.D595Y	ENST00000552810	18/54	112	77	35	62	62	0	strelka-varscan-mutect	CEP290,missense_variant,p.Asp595Tyr,ENST00000552810,NM_025114.3;CEP290,missense_variant,p.Asp597Tyr,ENST00000309041,;CEP290,missense_variant,p.Asp317Tyr,ENST00000604024,;CEP290,missense_variant,p.Asp597Tyr,ENST00000397838,;CEP290,missense_variant,p.Asp561Tyr,ENST00000547926,;	A	ENST00000552810	Transcript	missense_variant	2127/7948	1783/7440	595/2479	D/Y	Gat/Tat		1		-1	CEP290	HGNC	HGNC:29021	protein_coding	YES	CCDS55858.1	ENSP00000448012	O15078		UPI0000D60D15	NM_025114.3	deleterious(0)		18/54		hmmpanther:PTHR18879:SF20,hmmpanther:PTHR18879																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	88117074	88117074	C	A	1	0	0	0	0	1	0	0	0	2969	855	30	2		2	CEP290	12	88117074	Missense_Mutation	SNP	C	C3N-00549_TP	6519101	88117074	45158235	299	16489											
SNRPF	0	.	GRCh38	chr12	95861167	95861167	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttttgttctttgtgcaGagtttacccctcaatcccaa	7	17	5	12	0	2	1	1	0	1	1	3	1	3	1	4	0	2	3	4	0	3	7	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.4-1G>T		p.X2_splice	ENST00000266735		149	98	51	156	156	0	strelka-varscan-mutect	SNRPF,splice_acceptor_variant,,ENST00000266735,NM_003095.2;SNRPF,splice_acceptor_variant,,ENST00000552085,;SNRPF,splice_acceptor_variant,,ENST00000553192,;RP11-536G4.2,upstream_gene_variant,,ENST00000553194,;RP11-536G4.2,upstream_gene_variant,,ENST00000551893,;SNRPF,splice_acceptor_variant,,ENST00000551316,;SNRPF,upstream_gene_variant,,ENST00000549580,;RP11-536G4.2,upstream_gene_variant,,ENST00000553163,;	T	ENST00000266735	Transcript	splice_acceptor_variant	-/1389	4/261	2/86				1		1	SNRPF	HGNC	HGNC:11162	protein_coding	YES	CCDS9055.1	ENSP00000266735	P62306		UPI0000027DBC	NM_003095.2				1/3																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	51	95861167	95861167	G	T	1	0	0	0	0	0	0	1	0	15188	956	33	2		2	SNRPF	12	95861167	Splice_Site	SNP	G	C3N-00549_TP	7744093	95861167	37414142	300	16490											
HAL	0	.	GRCh38	chr12	95983940	95983940	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcgctgttcagttctgTggtaatgatgttcttcacaa	7	17	10	7	1	4	1	2	1	2	0	4	1	4	1	0	1	1	6	0	1	2	6	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.1258A>T	p.Thr420Ser	p.T420S	ENST00000261208	15/21	401	272	129	211	211	0	strelka-varscan-mutect	HAL,missense_variant,p.Thr420Ser,ENST00000261208,NM_002108.3;HAL,missense_variant,p.Thr212Ser,ENST00000541929,NM_001258333.1;HAL,missense_variant,p.Thr420Ser,ENST00000538703,NM_001258334.1;HAL,downstream_gene_variant,,ENST00000552509,;HAL,upstream_gene_variant,,ENST00000548808,;HAL,3_prime_UTR_variant,,ENST00000544080,;HAL,3_prime_UTR_variant,,ENST00000546999,;HAL,non_coding_transcript_exon_variant,,ENST00000548636,;	A	ENST00000261208	Transcript	missense_variant	1627/3913	1258/1974	420/657	T/S	Aca/Tca		1		-1	HAL	HGNC	HGNC:4806	protein_coding	YES	CCDS9058.1	ENSP00000261208	P42357		UPI000012CE8E	NM_002108.3	tolerated(0.08)		15/21		hmmpanther:PTHR10362,hmmpanther:PTHR10362:SF7,Pfam_domain:PF00221,TIGRFAM_domain:TIGR01225,Gene3D:1.20.200.10,Superfamily_domains:SSF48557																	MODERATE	1	SNV	1			1										PASS		rs769324608	.												A	3	1	51	95983940	95983940	T	A	1	0	0	0	0	1	0	0	0	6833	1696	59	4		4	HAL	12	95983940	Missense_Mutation	SNP	T	C3N-00549_TP	122773	95983940	37291369	301	16491											
SLC5A8	0	.	GRCh38	chr12	101193710	101193710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacagcctgtataatcaCggatgcaaatccagccacca	14	6	6	15	1	1	0	1	0	0	0	2	1	2	1	5	1	3	2	5	1	3	2	rs746207517		C3N-00549_TP	C3N-00549_NB	C	C																c.607G>T	p.Val203Leu	p.V203L	ENST00000536262	5/15	222	166	56	215	215	0	strelka-varscan-mutect	SLC5A8,missense_variant,p.Val203Leu,ENST00000536262,NM_145913.3;	A	ENST00000536262	Transcript	missense_variant	1166/4178	607/1833	203/610	V/L	Gtg/Ttg	rs746207517	1		-1	SLC5A8	HGNC	HGNC:19119	protein_coding	YES	CCDS9080.1	ENSP00000445340	Q8N695		UPI000004DAF6	NM_145913.3	deleterious(0.01)		5/15		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF121,TIGRFAM_domain:TIGR00813,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs746207517	.												A	3	1	51	101193710	101193710	C	A	1	0	0	0	0	1	0	0	0	14954	536	19	1		1	SLC5A8	12	101193710	Missense_Mutation	SNP	C	C3N-00549_TP	5209770	101193710	32081599	302	16492											
SSH1	0	.	GRCh38	chr12	108805088	108805088	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaagataagggagggctTgtccatctgtcccaagataa	13	9	11	8	1	1	2	0	0	1	2	4	4	3	3	2	2	0	1	2	2	4	3	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.922A>T	p.Lys308Ter	p.K308*	ENST00000326495	10/15	272	196	76	155	155	0	strelka-varscan-mutect	SSH1,stop_gained,p.Lys308Ter,ENST00000326495,NM_018984.3;SSH1,stop_gained,p.Lys319Ter,ENST00000326470,NM_001161331.1;SSH1,stop_gained,p.Lys308Ter,ENST00000551165,NM_001161330.1;SSH1,downstream_gene_variant,,ENST00000546697,;SSH1,stop_gained,p.Lys84Ter,ENST00000546433,;SSH1,downstream_gene_variant,,ENST00000547862,;SSH1,downstream_gene_variant,,ENST00000548522,;SSH1,downstream_gene_variant,,ENST00000547381,;	A	ENST00000326495	Transcript	stop_gained	1016/13040	922/3150	308/1049	K/*	Aag/Tag		1		-1	SSH1	HGNC	HGNC:30579	protein_coding	YES	CCDS9121.1	ENSP00000315713	Q8WYL5		UPI000003E894	NM_018984.3			10/15		PROSITE_profiles:PS50054,hmmpanther:PTHR10159:SF138,hmmpanther:PTHR10159,SMART_domains:SM00195,Superfamily_domains:SSF52799																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	51	108805088	108805088	T	A	1	0	0	0	0	0	1	0	0	15560	1821	63	4		4	SSH1	12	108805088	Nonsense_Mutation	SNP	T	C3N-00549_TP	7611378	108805088	24470221	303	16493											
TPCN1	0	.	GRCh38	chr12	113226756	113226756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaatggaggagtttctgaGcagcacccctggcccagtgg	8	9	13	11	0	2	1	0	1	2	0	2	3	2	3	3	4	2	3	3	4	1	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.120G>T	p.Glu40Asp	p.E40D	ENST00000550785	3/29	206	151	55	159	159	0	strelka-varscan-mutect	TPCN1,missense_variant,p.Glu40Asp,ENST00000550785,NM_001143819.2;TPCN1,missense_variant,p.Glu40Asp,ENST00000541517,;TPCN1,missense_variant,p.Glu54Asp,ENST00000552985,;TPCN1,missense_variant,p.Glu23Asp,ENST00000547275,;TPCN1,missense_variant,p.Glu40Asp,ENST00000551096,;TPCN1,5_prime_UTR_variant,,ENST00000335509,NM_017901.5;TPCN1,5_prime_UTR_variant,,ENST00000551099,;TPCN1,5_prime_UTR_variant,,ENST00000549279,;TPCN1,5_prime_UTR_variant,,ENST00000550873,;TPCN1,intron_variant,,ENST00000552897,;TPCN1,intron_variant,,ENST00000552642,;TPCN1,non_coding_transcript_exon_variant,,ENST00000552077,;	T	ENST00000550785	Transcript	missense_variant	289/5345	120/2667	40/888	E/D	gaG/gaT		1		1	TPCN1	HGNC	HGNC:18182	protein_coding	YES	CCDS44985.1	ENSP00000448083	Q9ULQ1		UPI00004066FB	NM_001143819.2	deleterious_low_confidence(0.05)		3/29		hmmpanther:PTHR10037																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	51	113226756	113226756	G	T	1	0	0	0	0	1	0	0	0	16874	962	34	2		2	TPCN1	12	113226756	Missense_Mutation	SNP	G	C3N-00549_TP	4421668	113226756	20048553	304	16494											
SETD1B	0	.	GRCh38	chr12	121827644	121827644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctgctcaagttcaaccaGctcaaggtgaggccgggctt	9	8	12	12	1	3	1	3	1	0	0	3	2	3	1	3	3	3	4	3	3	3	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.5334G>T	p.Gln1778His	p.Q1778H	ENST00000542440	15/18	196	116	80	125	125	0	strelka-varscan-mutect	SETD1B,missense_variant,p.Gln1778His,ENST00000542440,NM_015048.1;SETD1B,missense_variant,p.Gln1821His,ENST00000604567,;SETD1B,missense_variant,p.Gln1821His,ENST00000619791,;SETD1B,missense_variant,p.Gln1778His,ENST00000267197,;	T	ENST00000542440	Transcript	missense_variant	5402/8185	5334/5772	1778/1923	Q/H	caG/caT		1		1	SETD1B	HGNC	HGNC:29187	protein_coding	YES	CCDS53838.1	ENSP00000442924	Q9UPS6		UPI00006C12ED	NM_015048.1	deleterious(0)		15/18		Pfam_domain:PF11764,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF296,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	51	121827644	121827644	G	T	1	0	0	0	0	1	0	0	0	14408	962	34	2		2	SETD1B	12	121827644	Missense_Mutation	SNP	G	C3N-00549_TP	8600888	121827644	11447665	305	16495											
ITGBL1	0	.	GRCh38	chr13	101583264	101583264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcacgatgttgatccgactgGggactggggagatattcatg	9	11	14	7	2	2	2	2	1	0	1	3	6	3	3	1	4	0	1	1	4	1	3	rs112482922		C3N-00549_TP	C3N-00549_NB	G	G																c.776G>T	p.Gly259Val	p.G259V	ENST00000376180	6/11	197	115	82	180	180	0	strelka-varscan-mutect	ITGBL1,missense_variant,p.Gly118Val,ENST00000545560,NM_001271754.1;ITGBL1,missense_variant,p.Gly259Val,ENST00000376180,NM_004791.2;ITGBL1,missense_variant,p.Gly166Val,ENST00000622834,;ITGBL1,missense_variant,p.Gly210Val,ENST00000618057,NM_001271755.1;ITGBL1,missense_variant,p.Gly166Val,ENST00000376162,NM_001271756.1;	T	ENST00000376180	Transcript	missense_variant	995/2494	776/1485	259/494	G/V	gGg/gTg	rs112482922	1		1	ITGBL1	HGNC	HGNC:6164	protein_coding	YES	CCDS9499.1	ENSP00000365351	O95965	A0A024RDW7	UPI0000073C95	NM_004791.2	deleterious(0)		6/11		hmmpanther:PTHR10082:SF3,hmmpanther:PTHR10082,Gene3D:2.10.25.10,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		rs112482922	.												T	3	4	51	101583264	101583264	G	T	1	0	0	0	0	1	0	0	0	7808	1232	43	2		2	ITGBL1	13	101583264	Missense_Mutation	SNP	G	C3N-00549_TP		101583264	12781064	306	16496											
CCDC168	0	.	GRCh38	chr13	102744860	102744860	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaactccaggacagttgctTgtagatctttattaaactct	11	15	7	8	0	2	1	0	0	2	1	3	2	3	2	1	1	3	4	1	1	5	7	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.5837A>T	p.Gln1946Leu	p.Q1946L	ENST00000322527	4/4	216	144	72	172	172	0	strelka-varscan-mutect	CCDC168,missense_variant,p.Gln1946Leu,ENST00000322527,NM_001146197.1;LINC00283,non_coding_transcript_exon_variant,,ENST00000430111,;	A	ENST00000322527	Transcript	missense_variant	5975/21466	5837/21246	1946/7081	Q/L	cAa/cTa		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	deleterious(0.01)		4/4																			MODERATE	1	SNV	3			1										PASS		rs1406154105	.												A	3	1	51	102744860	102744860	T	A	1	0	0	0	0	1	0	0	0	2484	1812	63	4		4	CCDC168	13	102744860	Missense_Mutation	SNP	T	C3N-00549_TP	1161596	102744860	11619468	307	16497											
SLC10A2	0	.	GRCh38	chr13	103051346	103051346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctataatccacagtttGggagcaatgatccaggcgct	10	11	10	10	1	0	1	0	1	0	0	3	2	3	2	3	2	1	4	3	2	3	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.672C>T	p.=	p.P224P	ENST00000245312	4/6	549	324	225	434	434	0	strelka-varscan-mutect	SLC10A2,synonymous_variant,p.=,ENST00000245312,NM_000452.2;	A	ENST00000245312	Transcript	synonymous_variant	1269/3779	672/1047	224/348	P	ccC/ccT		1		-1	SLC10A2	HGNC	HGNC:10906	protein_coding	YES	CCDS9506.1	ENSP00000245312	Q12908		UPI000013CB9B	NM_000452.2			4/6		hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF19,TIGRFAM_domain:TIGR00841																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	51	103051346	103051346	G	A	1	0	0	0	0	0	0	0	1	14639	1335	47	3		3	SLC10A2	13	103051346	Silent	SNP	G	C3N-00549_TP	306486	103051346	11312982	308	16498											
GRK1	0	.	GRCh38	chr13	113731289	113731289	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactactttgccctgggggtCaccctgtatgagatgattgc	7	12	12	10	0	1	2	1	2	0	1	1	4	1	2	2	2	3	1	2	2	2	4	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1140C>G	p.=	p.V380V	ENST00000335678	5/7	168	63	105	203	203	0	strelka-varscan-mutect	GRK1,synonymous_variant,p.=,ENST00000335678,;GRK1,non_coding_transcript_exon_variant,,ENST00000545304,;GRK1,upstream_gene_variant,,ENST00000606140,;	G	ENST00000335678	Transcript	synonymous_variant	1372/4296	1140/1692	380/563	V	gtC/gtG		1		1	GRK1	HGNC	HGNC:10013	protein_coding	YES		ENSP00000334876	Q15835		UPI0000133B08				5/7		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF11,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	51	113731289	113731289	C	G	1	0	0	0	0	0	0	0	1	6671	813	29	4		4	GRK1	13	113731289	Silent	SNP	C	C3N-00549_TP	10679943	113731289	633039	309	16499											
CARMIL3	0	.	GRCh38	chr14	24058039	24058039	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgtcaatctgtcggccAcaaagctgcccctggaggcc	8	6	11	16	2	2	0	1	0	1	0	3	1	2	1	5	3	2	1	5	3	2	0	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.1297A>T	p.Thr433Ser	p.T433S	ENST00000342740	16/40	287	147	140	359	358	1	strelka-varscan-mutect	CARMIL3,missense_variant,p.Thr433Ser,ENST00000342740,NM_138360.3;CARMIL3,non_coding_transcript_exon_variant,,ENST00000559694,;CARMIL3,upstream_gene_variant,,ENST00000560349,;CARMIL3,upstream_gene_variant,,ENST00000561354,;	T	ENST00000342740	Transcript	missense_variant	1451/4597	1297/4119	433/1372	T/S	Aca/Tca		1		1	CARMIL3	HGNC	HGNC:20272	protein_coding	YES	CCDS32054.1	ENSP00000340467	Q8ND23		UPI0000DBEF11	NM_138360.3	deleterious(0)		16/40		hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF43,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	51	24058039	24058039	A	T	1	0	0	0	0	1	0	0	0	2353	159	6	4		4	CARMIL3	14	24058039	Missense_Mutation	SNP	A	C3N-00549_TP		24058039	82985679	310	16500											
PRKD1	0	.	GRCh38	chr14	29597510	29597510	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcatgagatatttccttCcagggatttggtggatacat	9	15	9	8	0	1	1	1	1	0	1	3	4	3	3	3	3	1	0	3	3	2	6	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.2415G>T	p.Trp805Cys	p.W805C	ENST00000331968	16/18	139	73	66	119	119	0	strelka-varscan-mutect	PRKD1,missense_variant,p.Trp805Cys,ENST00000331968,NM_002742.2;PRKD1,missense_variant,p.Trp805Cys,ENST00000616995,;PRKD1,missense_variant,p.Trp813Cys,ENST00000415220,;PRKD1,missense_variant,p.Trp53Cys,ENST00000490795,;	A	ENST00000331968	Transcript	missense_variant	2645/3726	2415/2739	805/912	W/C	tgG/tgT		1		-1	PRKD1	HGNC	HGNC:9407	protein_coding	YES	CCDS9637.1	ENSP00000333568	Q15139		UPI0000456761	NM_002742.2	deleterious(0)		16/18		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000552,PROSITE_profiles:PS50011,hmmpanther:PTHR22968,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	29597510	29597510	C	A	1	0	0	0	0	1	0	0	0	12651	856	30	2		2	PRKD1	14	29597510	Missense_Mutation	SNP	C	C3N-00549_TP	5539471	29597510	77446208	311	16501											
FANCM	0	.	GRCh38	chr14	45159233	45159233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgacttttgtcggccatGcctcagggaaaagcacgaag	12	9	11	9	2	1	1	1	1	0	0	2	3	1	2	2	2	2	1	2	2	4	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1534G>T	p.Ala512Ser	p.A512S	ENST00000267430	9/23	224	120	104	232	232	0	strelka-varscan-mutect	FANCM,missense_variant,p.Ala512Ser,ENST00000267430,NM_020937.2;FANCM,missense_variant,p.Ala486Ser,ENST00000542564,NM_001308133.1;FANCM,missense_variant,p.Ala97Ser,ENST00000556250,;FANCM,missense_variant,p.Ala512Ser,ENST00000556036,NM_001308134.1;	T	ENST00000267430	Transcript	missense_variant	1619/7111	1534/6147	512/2048	A/S	Gcc/Tcc		1		1	FANCM	HGNC	HGNC:23168	protein_coding	YES	CCDS32070.1	ENSP00000267430	Q8IYD8		UPI000059F032	NM_020937.2	tolerated(0.61)		9/23		PROSITE_profiles:PS51194,hmmpanther:PTHR14025:SF20,hmmpanther:PTHR14025,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1176304267	.												T	3	4	51	45159233	45159233	G	T	1	0	0	0	0	1	0	0	0	5531	1319	46	2		2	FANCM	14	45159233	Missense_Mutation	SNP	G	C3N-00549_TP	15561723	45159233	61884485	312	16502											
TRIM9	0	.	GRCh38	chr14	50979515	50979515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaagtcgaggaggacccCaattgtggccccttttgtga	9	12	11	9	1	0	1	0	1	0	0	1	4	0	3	4	3	0	0	4	3	2	5	rs768449747		C3N-00549_TP	C3N-00549_NB	C	C																c.1942G>T	p.Gly648Trp	p.G648W	ENST00000298355	9/10	137	101	36	135	135	0	strelka-varscan-mutect	TRIM9,missense_variant,p.Gly648Trp,ENST00000298355,NM_015163.5;TRIM9,missense_variant,p.Gly729Trp,ENST00000338969,;TRIM9,downstream_gene_variant,,ENST00000557456,;TRIM9,non_coding_transcript_exon_variant,,ENST00000555170,;TRIM9,downstream_gene_variant,,ENST00000555933,;	A	ENST00000298355	Transcript	missense_variant	3064/5284	1942/2133	648/710	G/W	Ggg/Tgg	rs768449747	1		-1	TRIM9	HGNC	HGNC:16288	protein_coding	YES	CCDS9703.1	ENSP00000298355	Q9C026		UPI000006D630	NM_015163.5	deleterious(0)		9/10		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF400,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs768449747	.												A	3	1	51	50979515	50979515	C	A	1	0	0	0	0	1	0	0	0	17046	594	21	2		2	TRIM9	14	50979515	Missense_Mutation	SNP	C	C3N-00549_TP	5820282	50979515	56064203	313	16503											
GMFB	0	.	GRCh38	chr14	54480949	54480949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatatttataactatacaCaatgaaggtttttctcaagt	14	17	5	5	0	1	2	1	2	1	0	2	2	1	2	0	1	2	1	0	1	8	9	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.208G>T	p.Val70Leu	p.V70L	ENST00000358056	5/7	53	33	20	45	45	0	strelka-varscan-mutect	GMFB,missense_variant,p.Val70Leu,ENST00000358056,NM_004124.2;GMFB,missense_variant,p.Val70Leu,ENST00000616146,;GMFB,missense_variant,p.Val83Leu,ENST00000553333,;GMFB,3_prime_UTR_variant,,ENST00000554908,;GMFB,3_prime_UTR_variant,,ENST00000628554,;GMFB,downstream_gene_variant,,ENST00000553566,;GMFB,splice_region_variant,,ENST00000554247,;GMFB,non_coding_transcript_exon_variant,,ENST00000554163,;GMFB,downstream_gene_variant,,ENST00000553952,;GMFB,downstream_gene_variant,,ENST00000554682,;	A	ENST00000358056	Transcript	missense_variant	477/4301	208/429	70/142	V/L	Gtg/Ttg		1		-1	GMFB	HGNC	HGNC:4373	protein_coding	YES	CCDS9718.1	ENSP00000350757	P60983		UPI0000161C06	NM_004124.2	tolerated(0.58)		5/7		PROSITE_profiles:PS51263,hmmpanther:PTHR11249,hmmpanther:PTHR11249:SF3,Gene3D:3.40.20.10,Pfam_domain:PF00241,PIRSF_domain:PIRSF001788,SMART_domains:SM00102,Superfamily_domains:SSF55753																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	54480949	54480949	C	A	1	0	0	0	0	1	0	0	0	6368	478	17	2		2	GMFB	14	54480949	Missense_Mutation	SNP	C	C3N-00549_TP	3501434	54480949	52562769	314	16504											
SAMD4A	0	.	GRCh38	chr14	54760307	54760307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtcagccctcactgatGggccccgagagccagagccc	7	4	12	18	3	2	3	2	1	0	2	2	4	2	3	6	1	3	0	6	1	0	0	rs754157629		C3N-00549_TP	C3N-00549_NB	G	G																c.1323G>T	p.Met441Ile	p.M441I	ENST00000392067	6/12	147	111	36	238	238	0	strelka-varscan-mutect	SAMD4A,missense_variant,p.Met441Ile,ENST00000392067,NM_015589.5;SAMD4A,missense_variant,p.Met32Ile,ENST00000631086,;SAMD4A,missense_variant,p.Met353Ile,ENST00000251091,NM_001161576.2;SAMD4A,missense_variant,p.Met441Ile,ENST00000554335,;SAMD4A,missense_variant,p.Met32Ile,ENST00000555192,NM_001161577.1;	T	ENST00000392067	Transcript	missense_variant	1628/6833	1323/2157	441/718	M/I	atG/atT	rs754157629	1		1	SAMD4A	HGNC	HGNC:23023	protein_coding	YES	CCDS32084.2	ENSP00000375919	Q9UPU9		UPI0000229786	NM_015589.5	tolerated(0.58)		6/12		hmmpanther:PTHR12515,hmmpanther:PTHR12515:SF8																	MODERATE	1	SNV	2			1										PASS		rs754157629	.												T	3	4	51	54760307	54760307	G	T	1	0	0	0	0	1	0	0	0	14081	1348	47	2		2	SAMD4A	14	54760307	Missense_Mutation	SNP	G	C3N-00549_TP	279358	54760307	52283411	315	16505											
MNAT1	0	.	GRCh38	chr14	60879761	60879761	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaagcttgaagaagctctGtatgaataccagccactgca	14	8	8	11	0	1	3	0	2	1	1	1	3	1	3	2	0	5	4	2	0	6	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.735G>T	p.=	p.L245L	ENST00000261245	7/8	199	115	84	191	191	0	strelka-varscan-mutect	MNAT1,synonymous_variant,p.=,ENST00000261245,NM_002431.3;MNAT1,synonymous_variant,p.=,ENST00000539616,NM_001177963.1;MNAT1,synonymous_variant,p.=,ENST00000557134,;MNAT1,synonymous_variant,p.=,ENST00000554002,;RP11-193F5.1,non_coding_transcript_exon_variant,,ENST00000553946,;MNAT1,non_coding_transcript_exon_variant,,ENST00000554641,;	T	ENST00000261245	Transcript	synonymous_variant	836/2635	735/930	245/309	L	ctG/ctT		1		1	MNAT1	HGNC	HGNC:7181	protein_coding	YES	CCDS9750.1	ENSP00000261245	P51948	A0A024R688	UPI000002FC14	NM_002431.3			7/8		hmmpanther:PTHR12683,TIGRFAM_domain:TIGR00570,PIRSF_domain:PIRSF003338,Pfam_domain:PF06391																	LOW	1	SNV	1			1										PASS		rs1427238944	.												T	2	4	51	60879761	60879761	G	T	1	0	0	0	0	0	0	0	1	9638	1364	48	2		2	MNAT1	14	60879761	Silent	SNP	G	C3N-00549_TP	6119454	60879761	46163957	316	16506											
MLH3	0	.	GRCh38	chr14	75042405	75042405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctgtctcatcacagtcCtctctgctcgagctctcgga	6	13	7	15	2	4	0	2	0	3	0	10	2	6	1	2	1	2	2	2	1	1	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.3353G>T	p.Arg1118Met	p.R1118M	ENST00000355774	3/13	292	216	76	354	354	0	strelka-varscan-mutect	MLH3,missense_variant,p.Arg1118Met,ENST00000355774,NM_001040108.1;MLH3,missense_variant,p.Arg1118Met,ENST00000380968,NM_014381.2;MLH3,missense_variant,p.Arg1118Met,ENST00000556740,;MLH3,intron_variant,,ENST00000556257,;MLH3,intron_variant,,ENST00000553713,;MLH3,non_coding_transcript_exon_variant,,ENST00000555499,;MLH3,intron_variant,,ENST00000555671,;MLH3,missense_variant,p.Arg114Met,ENST00000555144,;MLH3,intron_variant,,ENST00000556453,;	A	ENST00000355774	Transcript	missense_variant	3569/7896	3353/4362	1118/1453	R/M	aGg/aTg		1		-1	MLH3	HGNC	HGNC:7128	protein_coding	YES	CCDS32123.1	ENSP00000348020	Q9UHC1		UPI00001AEEE0	NM_001040108.1	deleterious(0.02)		3/13		hmmpanther:PTHR10073:SF7,hmmpanther:PTHR10073																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	51	75042405	75042405	C	A	1	0	0	0	0	1	0	0	0	9585	681	24	2		2	MLH3	14	75042405	Missense_Mutation	SNP	C	C3N-00549_TP	14162644	75042405	32001313	317	16507											
CEP128	0	.	GRCh38	chr14	80904888	80904888	+	Silent	SNP	C	C	A																															cgtttaataccctgtggatcCccatagtccttgagaggtga																								novel		C3N-00549_TP	C3N-00549_NB	C	C																c.405G>T	p.=	p.G135G	ENST00000555265	6/25	185	157	28	223	223	0	strelka-varscan-mutect	CEP128,synonymous_variant,p.=,ENST00000555265,;CEP128,synonymous_variant,p.=,ENST00000281129,NM_152446.3;CEP128,synonymous_variant,p.=,ENST00000554827,;CEP128,synonymous_variant,p.=,ENST00000216517,;CEP128,synonymous_variant,p.=,ENST00000555529,;CEP128,downstream_gene_variant,,ENST00000556042,;CEP128,downstream_gene_variant,,ENST00000554298,;	A	ENST00000555265	Transcript	synonymous_variant	781/4662	405/3285	135/1094	G	ggG/ggT		1		-1	CEP128	HGNC	HGNC:20359	protein_coding	YES	CCDS32130.1	ENSP00000451162	Q6ZU80		UPI000022982E				6/25																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	51	80904888	80904888	C	A	1	0	0	0	0	0	0	0	1	2958	610	22	2		2	CEP128	14	80904888	Silent	SNP	C	C3N-00549_TP	5862483	80904888	26138830	318	16508	357	2									
CEP128	0	.	GRCh38	chr14	80904889	80904889	+	Missense_Mutation	SNP	C	C	A																															gtttaataccctgtggatccCcatagtccttgagaggtgag																								rs376002974		C3N-00549_TP	C3N-00549_NB	C	C																c.404G>T	p.Gly135Val	p.G135V	ENST00000555265	6/25	181	152	29	221	221	0	strelka-varscan-mutect	CEP128,missense_variant,p.Gly135Val,ENST00000555265,;CEP128,missense_variant,p.Gly135Val,ENST00000281129,NM_152446.3;CEP128,missense_variant,p.Gly14Val,ENST00000554827,;CEP128,missense_variant,p.Gly135Val,ENST00000216517,;CEP128,missense_variant,p.Gly135Val,ENST00000555529,;CEP128,downstream_gene_variant,,ENST00000556042,;CEP128,downstream_gene_variant,,ENST00000554298,;	A	ENST00000555265	Transcript	missense_variant	780/4662	404/3285	135/1094	G/V	gGg/gTg	rs376002974	1		-1	CEP128	HGNC	HGNC:20359	protein_coding	YES	CCDS32130.1	ENSP00000451162	Q6ZU80		UPI000022982E		deleterious(0.02)		6/25																			MODERATE	1	SNV	5			1										PASS		rs376002974	.												A	3	1	51	80904889	80904889	C	A	1	0	0	0	0	1	0	0	0	2958	623	22	2		2	CEP128	14	80904889	Missense_Mutation	SNP	C	C3N-00549_TP	1	80904889	26138829	319	16509	357	2									
ITPK1	0	.	GRCh38	chr14	92941782	92941782	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccgcccgccggctcggccaGaagcttgctgtgcctcagca	5	6	13	17	4	1	1	1	0	0	1	2	1	1	1	5	2	4	4	5	2	1	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1024C>G	p.Leu342Val	p.L342V	ENST00000267615	11/11	271	211	60	359	359	0	strelka-varscan-mutect	ITPK1,missense_variant,p.Leu342Val,ENST00000267615,;ITPK1,missense_variant,p.Leu342Val,ENST00000556603,NM_001142593.1,NM_014216.4;ITPK1,missense_variant,p.Leu223Val,ENST00000555495,;ITPK1,intron_variant,,ENST00000354313,NM_001142594.1;ITPK1,downstream_gene_variant,,ENST00000556954,;ITPK1,downstream_gene_variant,,ENST00000553695,;	C	ENST00000267615	Transcript	missense_variant	1198/6066	1024/1245	342/414	L/V	Ctg/Gtg		1		-1	ITPK1	HGNC	HGNC:6177	protein_coding	YES	CCDS9907.1	ENSP00000267615	Q13572	A0A024R6H3	UPI000006F88A		tolerated_low_confidence(0.11)		11/11																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	51	92941782	92941782	G	C	1	0	0	0	0	1	0	0	0	7822	933	33	4		4	ITPK1	14	92941782	Missense_Mutation	SNP	G	C3N-00549_TP	12036893	92941782	14101936	320	16510											
DYNC1H1	0	.	GRCh38	chr14	101979365	101979365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattgatgcagataaacccGtgtcttctcagctccgggtc	8	12	10	11	2	2	3	1	2	2	1	5	3	3	3	2	1	3	2	2	1	2	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.391G>A	p.Val131Met	p.V131M	ENST00000360184	3/78	280	139	141	262	262	0	strelka-varscan-mutect	DYNC1H1,missense_variant,p.Val131Met,ENST00000360184,NM_001376.4;	A	ENST00000360184	Transcript	missense_variant	555/14333	391/13941	131/4646	V/M	Gtg/Atg		1		1	DYNC1H1	HGNC	HGNC:2961	protein_coding	YES	CCDS9966.1	ENSP00000348965	Q14204		UPI00001B515A	NM_001376.4	deleterious(0.03)		3/78		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF28																	MODERATE	1	SNV	1			1										PASS		rs1488184652	.												A	3	1	51	101979365	101979365	G	A	1	0	0	0	0	1	0	0	0	4665	1145	40	1		1	DYNC1H1	14	101979365	Missense_Mutation	SNP	G	C3N-00549_TP	9037583	101979365	5064353	321	16511											
C14orf180	0	.	GRCh38	chr14	104586446	104586446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtaaatgaggactgcagcaGgagccgtgagccctgactcc	11	6	13	11	1	0	3	0	3	0	0	1	5	1	5	3	2	4	3	3	2	2	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.16G>A	p.Gly6Arg	p.G6R	ENST00000331952	2/5	63	45	18	65	65	0	strelka-varscan-mutect	C14orf180,missense_variant,p.Gly6Arg,ENST00000557649,NM_001008404.2;C14orf180,missense_variant,p.Gly6Arg,ENST00000410013,NM_001286400.1;C14orf180,missense_variant,p.Gly6Arg,ENST00000331952,NM_001286399.1;TMEM179,intron_variant,,ENST00000415614,;TMEM179,downstream_gene_variant,,ENST00000616017,;TMEM179,downstream_gene_variant,,ENST00000556320,;RP11-614O9.1,downstream_gene_variant,,ENST00000556073,;	A	ENST00000331952	Transcript	missense_variant	272/1455	16/534	6/177	G/R	Gga/Aga		1		1	C14orf180	HGNC	HGNC:33795	protein_coding	YES	CCDS66722.1	ENSP00000333041		J3KNP8	UPI00021CF38C	NM_001286399.1	tolerated_low_confidence(0.93)		2/5		hmmpanther:PTHR36868:SF1,hmmpanther:PTHR36868																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	51	104586446	104586446	G	A	1	0	0	0	0	1	0	0	0	1835	1001	35	3		3	C14orf180	14	104586446	Missense_Mutation	SNP	G	C3N-00549_TP	2607081	104586446	2457272	322	16512											
AHNAK2	0	.	GRCh38	chr14	104943804	104943804	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgggcaggtgtccttTgaggccggcttcctcgggca	4	10	14	13	2	0	1	0	1	0	0	3	1	2	1	4	5	0	3	4	5	0	3	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.11647A>T	p.Lys3883Ter	p.K3883*	ENST00000333244	7/7	430	208	222	365	365	0	strelka-varscan-mutect	AHNAK2,stop_gained,p.Lys3883Ter,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	A	ENST00000333244	Transcript	stop_gained	11767/18254	11647/17388	3883/5795	K/*	Aaa/Taa		1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2			7/7		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	51	104943804	104943804	T	A	1	0	0	0	0	0	1	0	0	492	1821	63	4		4	AHNAK2	14	104943804	Nonsense_Mutation	SNP	T	C3N-00549_TP	357358	104943804	2099914	323	16513											
NPAP1	0	.	GRCh38	chr15	24678653	24678653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaccagttataggcttaaCatctccttcagtccagccac	11	10	6	14	0	2	0	1	0	1	0	4	0	3	0	4	1	3	3	4	1	3	4			C3N-00549_TP	C3N-00549_NB	C	C																c.2786C>A	p.Thr929Lys	p.T929K	ENST00000329468	1/1	415	198	217	290	290	0	strelka-varscan-mutect	NPAP1,missense_variant,p.Thr929Lys,ENST00000329468,NM_018958.2;	A	ENST00000329468	Transcript	missense_variant	2786/7526	2786/3471	929/1156	T/K	aCa/aAa	COSM4933053	1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2	tolerated(0.21)		1/1		hmmpanther:PTHR23193:SF15,hmmpanther:PTHR23193											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	51	24678653	24678653	C	A	1	0	0	0	0	1	0	0	0	10609	478	17	2		2	NPAP1	15	24678653	Missense_Mutation	SNP	C	C3N-00549_TP		24678653	77312536	324	16514											
NPAP1	0	.	GRCh38	chr15	24678858	24678858	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggagacagtaccttactGgttggaaatactattccagg	12	11	10	8	0	0	1	0	0	0	1	1	3	1	2	2	4	3	2	2	4	5	6	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.2991G>C	p.=	p.L997L	ENST00000329468	1/1	352	266	86	248	248	0	strelka-varscan-mutect	NPAP1,synonymous_variant,p.=,ENST00000329468,NM_018958.2;	C	ENST00000329468	Transcript	synonymous_variant	2991/7526	2991/3471	997/1156	L	ctG/ctC		1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2			1/1		hmmpanther:PTHR23193:SF15,hmmpanther:PTHR23193																	LOW	1	SNV				1										PASS		rs919442957	.												C	2	2	51	24678858	24678858	G	C	1	0	0	0	0	0	0	0	1	10609	1335	47	4		4	NPAP1	15	24678858	Silent	SNP	G	C3N-00549_TP	205	24678858	77312331	325	16515											
GOLGA8J	0	.	GRCh38	chr15	30092710	30092710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaatattttggctccagagCagctttatggaccacctgga	10	11	10	10	0	0	1	0	0	0	1	1	3	1	3	3	3	2	4	3	3	3	5	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1371C>A	p.Ser457Arg	p.S457R	ENST00000567927	16/19	71	48	23	37	37	0	strelka-varscan-mutect	GOLGA8J,missense_variant,p.Ser457Arg,ENST00000567927,NM_001282472.1;RN7SL673P,downstream_gene_variant,,ENST00000616262,;GOLGA8J,downstream_gene_variant,,ENST00000568123,;	A	ENST00000567927	Transcript	missense_variant,splice_region_variant	1371/1899	1371/1899	457/632	S/R	agC/agA		1		1	GOLGA8J	HGNC	HGNC:38650	protein_coding	YES	CCDS61574.1	ENSP00000456401	A6NMD2		UPI0001A5E7A2	NM_001282472.1	deleterious(0.02)		16/19		hmmpanther:PTHR10881:SF48,hmmpanther:PTHR10881,Pfam_domain:PF15070																	MODERATE	1	SNV	5			1										PASS		rs904887147	.												A	3	1	51	30092710	30092710	C	A	1	0	0	0	0	1	0	0	0	6452	724	25	2		2	GOLGA8J	15	30092710	Missense_Mutation	SNP	C	C3N-00549_TP	5413852	30092710	71898479	326	16516											
GOLGA8J	0	.	GRCh38	chr15	30093334	30093334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctccaaagatctttgtgaGgtgagcctcacctcctctgc	7	12	8	14	0	4	3	1	2	3	1	6	3	5	3	4	1	2	0	4	1	1	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1734G>T	p.Glu578Asp	p.E578D	ENST00000567927	19/19	244	111	133	214	214	0	strelka-varscan-mutect	GOLGA8J,missense_variant,p.Glu578Asp,ENST00000567927,NM_001282472.1;RN7SL673P,downstream_gene_variant,,ENST00000616262,;GOLGA8J,downstream_gene_variant,,ENST00000568123,;	T	ENST00000567927	Transcript	missense_variant	1734/1899	1734/1899	578/632	E/D	gaG/gaT		1		1	GOLGA8J	HGNC	HGNC:38650	protein_coding	YES	CCDS61574.1	ENSP00000456401	A6NMD2		UPI0001A5E7A2	NM_001282472.1	tolerated(0.1)		19/19		hmmpanther:PTHR10881:SF48,hmmpanther:PTHR10881,Pfam_domain:PF15070																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	51	30093334	30093334	G	T	1	0	0	0	0	1	0	0	0	6452	991	35	2		2	GOLGA8J	15	30093334	Missense_Mutation	SNP	G	C3N-00549_TP	624	30093334	71897855	327	16517											
GOLGA8H	0	.	GRCh38	chr15	30614540	30614540	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccattgttgtgctgggcttgGctgccaagaagaaggagata	10	10	14	7	0	0	3	0	0	0	3	0	4	0	3	2	3	2	4	2	3	4	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1878G>A	p.Trp626Ter	p.W626*	ENST00000566740	19/19	619	283	336	471	471	0	strelka-varscan-mutect	GOLGA8H,stop_gained,p.Trp626Ter,ENST00000566740,NM_001282490.1;RP11-932O9.9,upstream_gene_variant,,ENST00000602594,;RP11-932O9.7,downstream_gene_variant,,ENST00000501830,;RN7SL628P,downstream_gene_variant,,ENST00000619139,;	A	ENST00000566740	Transcript	stop_gained	1878/1899	1878/1899	626/632	W/*	tgG/tgA		1		1	GOLGA8H	HGNC	HGNC:37443	protein_coding	YES	CCDS61576.1	ENSP00000456894	P0CJ92		UPI0001A5E7A5	NM_001282490.1			19/19		hmmpanther:PTHR10881:SF48,hmmpanther:PTHR10881																	HIGH		SNV	5			1										PASS		.	.												A	4	1	51	30614540	30614540	G	A	1	0	0	0	0	0	1	0	0	6451	1212	42	3		3	GOLGA8H	15	30614540	Nonsense_Mutation	SNP	G	C3N-00549_TP	521206	30614540	71376649	328	16518											
UBR1	0	.	GRCh38	chr15	43003842	43003842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaaggacaacttacttctgCcagcacactgcgtgcattac	12	9	8	12	1	1	1	0	0	1	1	1	2	1	2	1	1	7	2	1	1	4	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.3504G>T	p.Trp1168Cys	p.W1168C	ENST00000290650	31/47	687	520	167	489	487	2	strelka-varscan-mutect	UBR1,missense_variant,p.Trp1168Cys,ENST00000290650,NM_174916.2;UBR1,non_coding_transcript_exon_variant,,ENST00000568782,;	A	ENST00000290650	Transcript	missense_variant	3583/7761	3504/5250	1168/1749	W/C	tgG/tgT		1		-1	UBR1	HGNC	HGNC:16808	protein_coding	YES	CCDS10091.1	ENSP00000290650	Q8IWV7		UPI0000074467	NM_174916.2	deleterious(0)		31/47		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF27,Gene3D:3.30.40.10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	43003842	43003842	C	A	1	0	0	0	0	1	0	0	0	17425	753	26	2		2	UBR1	15	43003842	Missense_Mutation	SNP	C	C3N-00549_TP	12389302	43003842	58987347	329	16519											
TLN2	0	.	GRCh38	chr15	62805726	62805726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatgtagacaggaggacGtgattgctactgccaacctg	11	9	11	10	1	1	2	1	1	0	1	1	4	1	4	2	2	4	2	2	2	3	3	rs778720944		C3N-00549_TP	C3N-00549_NB	G	G																c.6604G>T	p.Val2202Leu	p.V2202L	ENST00000561311	50/58	250	114	136	157	157	0	strelka-varscan-mutect	TLN2,missense_variant,p.Val2202Leu,ENST00000561311,NM_015059.2;TLN2,missense_variant,p.Val1200Leu,ENST00000306829,;TLN2,missense_variant,p.Val1227Leu,ENST00000636159,;TLN2,missense_variant,p.Val1116Leu,ENST00000494733,;TLN2,non_coding_transcript_exon_variant,,ENST00000489129,;	T	ENST00000561311	Transcript	missense_variant	6834/11880	6604/7629	2202/2542	V/L	Gtg/Ttg	rs778720944	1		1	TLN2	HGNC	HGNC:15447	protein_coding	YES	CCDS32261.1	ENSP00000453508	Q9Y4G6		UPI00001FE5FC	NM_015059.2	deleterious(0.02)		50/58		hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15																	MODERATE	1	SNV	5			1										PASS		rs778720944	.												T	3	4	51	62805726	62805726	G	T	1	0	0	0	0	1	0	0	0	16394	1145	40	1		1	TLN2	15	62805726	Missense_Mutation	SNP	G	C3N-00549_TP	19801884	62805726	39185463	330	16520											
APH1B	0	.	GRCh38	chr15	63302405	63302405	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcattgtattttttgatgGctgtgagaagaaaaagtggg	11	13	15	2	0	0	3	0	2	0	2	0	4	0	3	0	3	0	3	0	3	4	5	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.539G>C	p.Gly180Ala	p.G180A	ENST00000261879	5/6	186	147	39	121	121	0	strelka-varscan-mutect	APH1B,missense_variant,p.Gly180Ala,ENST00000261879,NM_031301.3;APH1B,missense_variant,p.Gly126Ala,ENST00000560890,;APH1B,missense_variant,p.Gly139Ala,ENST00000380343,NM_001145646.1;APH1B,intron_variant,,ENST00000560353,;APH1B,non_coding_transcript_exon_variant,,ENST00000560716,;APH1B,intron_variant,,ENST00000559823,;APH1B,3_prime_UTR_variant,,ENST00000559971,;APH1B,3_prime_UTR_variant,,ENST00000380340,;APH1B,non_coding_transcript_exon_variant,,ENST00000558631,;	C	ENST00000261879	Transcript	missense_variant	609/4189	539/774	180/257	G/A	gGc/gCc		1		1	APH1B	HGNC	HGNC:24080	protein_coding	YES	CCDS10184.1	ENSP00000261879	Q8WW43		UPI000004222D	NM_031301.3	tolerated(1)		5/6		hmmpanther:PTHR12889,hmmpanther:PTHR12889:SF1,Pfam_domain:PF06105																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	51	63302405	63302405	G	C	1	0	0	0	0	1	0	0	0	893	1203	42	4		4	APH1B	15	63302405	Missense_Mutation	SNP	G	C3N-00549_TP	496679	63302405	38688784	331	16521											
HERC1	0	.	GRCh38	chr15	63666382	63666382	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccatggctttggcaatcTgccgaagagagaaccccatt	10	10	9	12	1	1	2	0	0	1	2	2	4	2	2	4	2	2	2	4	2	3	3			C3N-00549_TP	C3N-00549_NB	T	T																c.8297A>C	p.Gln2766Pro	p.Q2766P	ENST00000443617	41/78	207	90	117	183	183	0	strelka-varscan-mutect	HERC1,missense_variant,p.Gln2766Pro,ENST00000443617,NM_003922.3;	G	ENST00000443617	Transcript	missense_variant	8385/15137	8297/14586	2766/4861	Q/P	cAg/cCg	COSM331791,COSM331792	1		-1	HERC1	HGNC	HGNC:4867	protein_coding	YES	CCDS45277.1	ENSP00000390158	Q15751	A0A024R5W0	UPI0000212760	NM_003922.3	deleterious(0.01)		41/78													1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	51	63666382	63666382	T	G	1	0	0	0	0	1	0	0	0	6941	1580	55	5		5	HERC1	15	63666382	Missense_Mutation	SNP	T	C3N-00549_TP	363977	63666382	38324807	332	16522											
LCTL	0	.	GRCh38	chr15	66565356	66565356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagggtggcgacccacaCtggcttcatggtgcctggcc	7	7	14	13	1	1	1	1	0	0	1	1	2	1	1	3	5	1	1	3	5	1	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.10G>T	p.Val4Leu	p.V4L	ENST00000341509	1/13	149	52	97	140	140	0	strelka-varscan-mutect	LCTL,missense_variant,p.Val4Leu,ENST00000341509,NM_207338.3;LCTL,intron_variant,,ENST00000537670,NM_001278562.1;LCTL,intron_variant,,ENST00000563438,;LCTL,intron_variant,,ENST00000562179,;LCTL,intron_variant,,ENST00000565875,;	A	ENST00000341509	Transcript	missense_variant	142/3147	10/1704	4/567	V/L	Gtg/Ttg		1		-1	LCTL	HGNC	HGNC:15583	protein_coding	YES	CCDS10220.1	ENSP00000343490	Q6UWM7		UPI00002520EC	NM_207338.3	tolerated_low_confidence(0.28)		1/13		hmmpanther:PTHR10353,hmmpanther:PTHR10353:SF24,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs1201827745	.												A	3	1	51	66565356	66565356	C	A	1	0	0	0	0	1	0	0	0	8600	565	20	2		2	LCTL	15	66565356	Missense_Mutation	SNP	C	C3N-00549_TP	2898974	66565356	35425833	333	16523											
PML	0	.	GRCh38	chr15	74044745	74044745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccccgggctgaggccCgcctcctggccctacacaac	5	6	11	19	2	0	1	0	1	0	0	1	1	1	1	6	3	4	2	6	3	2	1	rs754836240		C3N-00549_TP	C3N-00549_NB	C	C																c.2386C>T	p.Arg796Cys	p.R796C	ENST00000268058	9/9	409	118	291	204	201	3	strelka-varscan-mutect	PML,missense_variant,p.Arg748Cys,ENST00000565898,;PML,missense_variant,p.Arg796Cys,ENST00000268058,NM_033238.2;PML,downstream_gene_variant,,ENST00000395135,NM_002675.3;PML,downstream_gene_variant,,ENST00000569965,;PML,downstream_gene_variant,,ENST00000564428,NM_033249.2;PML,downstream_gene_variant,,ENST00000359928,NM_033246.2;PML,downstream_gene_variant,,ENST00000565317,;	T	ENST00000268058	Transcript	missense_variant	2482/4508	2386/2649	796/882	R/C	Cgc/Tgc	rs754836240,COSM3771884	1		1	PML	HGNC	HGNC:9113	protein_coding	YES	CCDS10255.1	ENSP00000268058	P29590		UPI000013D78F	NM_033238.2	deleterious(0)		9/9													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs754836240	.												T	3	4	51	74044745	74044745	C	T	1	0	0	0	0	1	0	0	0	12242	652	23	1		1	PML	15	74044745	Missense_Mutation	SNP	C	C3N-00549_TP	7479389	74044745	27946444	334	16524											
MESDC1	0	.	GRCh38	chr15	81002744	81002744	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtgacgcgatgccgccAcgaggtggagcagggttgcg	6	5	18	12	7	0	1	0	1	0	0	0	4	0	2	3	3	3	2	3	3	0	1	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.473A>G	p.His158Arg	p.H158R	ENST00000267984	1/1	164	59	105	93	93	0	strelka-varscan-mutect	MESDC1,missense_variant,p.His158Arg,ENST00000267984,NM_022566.2;CFAP161,upstream_gene_variant,,ENST00000560091,;RP11-775C24.5,upstream_gene_variant,,ENST00000620635,;	G	ENST00000267984	Transcript	missense_variant	1801/4845	473/1089	158/362	H/R	cAc/cGc		1		1	MESDC1	HGNC	HGNC:13519	protein_coding	YES	CCDS10316.1	ENSP00000267984	Q9H1K6		UPI000012EE04	NM_022566.2	tolerated(0.05)		1/1		hmmpanther:PTHR19981																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	51	81002744	81002744	A	G	1	0	0	0	0	1	0	0	0	9425	159	6	5		5	MESDC1	15	81002744	Missense_Mutation	SNP	A	C3N-00549_TP	6957999	81002744	20988445	335	16525											
ACAN	0	.	GRCh38	chr15	88843536	88843536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgctaccccatctccaaGgcccggcccaactgcggtgg	6	6	12	17	3	1	0	0	0	1	0	2	0	1	0	5	4	4	1	5	4	3	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.939G>T	p.Lys313Asn	p.K313N	ENST00000439576	6/18	206	85	121	157	157	0	strelka-varscan-mutect	ACAN,missense_variant,p.Lys313Asn,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Lys313Asn,ENST00000617301,;ACAN,missense_variant,p.Lys313Asn,ENST00000559004,;ACAN,missense_variant,p.Lys313Asn,ENST00000561243,;ACAN,missense_variant,p.Lys313Asn,ENST00000352105,NM_001135.3;ACAN,missense_variant,p.Lys313Asn,ENST00000558207,;	T	ENST00000439576	Transcript	missense_variant	1313/8840	939/7593	313/2530	K/N	aaG/aaT		1		1	ACAN	HGNC	HGNC:319	protein_coding	YES	CCDS53970.1	ENSP00000387356		E7EX88	UPI0001B23381	NM_013227.3	deleterious(0.03)		6/18		PROSITE_profiles:PS50963,hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804,PROSITE_patterns:PS01241,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	51	88843536	88843536	G	T	1	0	0	0	0	1	0	0	0	160	991	35	2		2	ACAN	15	88843536	Missense_Mutation	SNP	G	C3N-00549_TP	7840792	88843536	13147653	336	16526											
ANPEP	0	.	GRCh38	chr15	89803242	89803242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggctgctactgacctcCtgcaggtggtcccacaggtt	5	10	13	13	0	0	1	0	1	0	0	2	1	2	1	3	5	3	5	3	5	1	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1566G>T	p.Gln522His	p.Q522H	ENST00000300060	10/21	294	238	56	158	158	0	strelka-varscan-mutect	ANPEP,missense_variant,p.Gln522His,ENST00000300060,NM_001150.2;ANPEP,downstream_gene_variant,,ENST00000559874,;ANPEP,downstream_gene_variant,,ENST00000560137,;ANPEP,upstream_gene_variant,,ENST00000558177,;ANPEP,3_prime_UTR_variant,,ENST00000560030,;ANPEP,downstream_gene_variant,,ENST00000560028,;ANPEP,downstream_gene_variant,,ENST00000559887,;ANPEP,upstream_gene_variant,,ENST00000559761,;	A	ENST00000300060	Transcript	missense_variant	1880/3678	1566/2904	522/967	Q/H	caG/caT		1		-1	ANPEP	HGNC	HGNC:500	protein_coding	YES	CCDS10356.1	ENSP00000300060	P15144	A0A024RC61	UPI00001AECCF	NM_001150.2	deleterious(0)		10/21		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF172,Gene3D:1.10.390.10,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	89803242	89803242	C	A	1	0	0	0	0	1	0	0	0	817	695	24	2		2	ANPEP	15	89803242	Missense_Mutation	SNP	C	C3N-00549_TP	959706	89803242	12187947	337	16527											
UNC45A	0	.	GRCh38	chr15	90946815	90946815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatccatgcagccggcaaGgctaagcgggcctcattcat	9	8	11	13	2	2	1	2	1	0	0	3	1	3	1	3	3	3	3	3	3	2	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1401G>T	p.Lys467Asn	p.K467N	ENST00000418476	10/20	323	112	211	195	195	0	strelka-varscan-mutect	UNC45A,missense_variant,p.Lys452Asn,ENST00000394275,NM_001039675.1;UNC45A,missense_variant,p.Lys467Asn,ENST00000418476,NM_001323619.1,NM_018671.3;UNC45A,downstream_gene_variant,,ENST00000553671,;UNC45A,non_coding_transcript_exon_variant,,ENST00000556704,;UNC45A,non_coding_transcript_exon_variant,,ENST00000554481,;UNC45A,upstream_gene_variant,,ENST00000487875,;UNC45A,upstream_gene_variant,,ENST00000471780,;UNC45A,downstream_gene_variant,,ENST00000557212,;	T	ENST00000418476	Transcript	missense_variant	1441/3252	1401/2835	467/944	K/N	aaG/aaT		1		1	UNC45A	HGNC	HGNC:30594	protein_coding	YES	CCDS10367.1	ENSP00000407487	Q9H3U1		UPI000000D953	NM_001323619.1,NM_018671.3	deleterious(0)		10/20		Pfam_domain:PF11701,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF275,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	90946815	90946815	G	T	1	0	0	0	0	1	0	0	0	17512	991	35	2		2	UNC45A	15	90946815	Missense_Mutation	SNP	G	C3N-00549_TP	1143573	90946815	11044374	338	16528											
LRRC28	0	.	GRCh38	chr15	99361346	99361346	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctttctgcagctgtggtgctCccattcaagtttccgaggtg	5	14	11	11	1	2	0	1	0	1	0	4	1	4	0	2	2	3	4	2	2	1	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.706C>G	p.Pro236Ala	p.P236A	ENST00000301981	8/10	99	25	74	108	108	0	strelka-varscan-mutect	LRRC28,missense_variant,p.Pro236Ala,ENST00000301981,NM_001321680.1,NM_001321675.1,NM_001321679.1,NM_144598.3;LRRC28,missense_variant,p.Pro236Ala,ENST00000447360,NM_001284400.1;LRRC28,missense_variant,p.Pro191Ala,ENST00000561276,;LRRC28,missense_variant,p.Pro132Ala,ENST00000558172,;LRRC28,intron_variant,,ENST00000331450,;LRRC28,intron_variant,,ENST00000558879,;LRRC28,3_prime_UTR_variant,,ENST00000559433,;LRRC28,3_prime_UTR_variant,,ENST00000558471,;LRRC28,non_coding_transcript_exon_variant,,ENST00000559819,;LRRC28,non_coding_transcript_exon_variant,,ENST00000558890,;LRRC28,non_coding_transcript_exon_variant,,ENST00000560483,;LRRC28,upstream_gene_variant,,ENST00000560236,;	G	ENST00000301981	Transcript	missense_variant	946/5971	706/1104	236/367	P/A	Ccc/Gcc		1		1	LRRC28	HGNC	HGNC:28355	protein_coding	YES	CCDS10380.1	ENSP00000304923	Q86X40		UPI000000DBCB	NM_001321680.1,NM_001321675.1,NM_001321679.1,NM_144598.3	tolerated(0.62)		8/10		Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs1445669194	.												G	3	3	51	99361346	99361346	C	G	1	0	0	0	0	1	0	0	0	8877	855	30	4		4	LRRC28	15	99361346	Missense_Mutation	SNP	C	C3N-00549_TP	8414531	99361346	2629843	339	16529											
MMP25	0	.	GRCh38	chr16	3057375	3057375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggctcctccgccccagcccCcggcctcgcccacacacagg	5	4	9	23	3	0	0	0	0	0	0	3	0	2	0	8	3	1	1	8	3	0	0	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.904C>A	p.Pro302Thr	p.P302T	ENST00000336577	6/10	115	70	45	132	132	0	strelka-mutect	MMP25,missense_variant,p.Pro302Thr,ENST00000336577,NM_022468.4;MMP25,downstream_gene_variant,,ENST00000612971,;MMP25-AS1,intron_variant,,ENST00000573953,;MMP25-AS1,intron_variant,,ENST00000572574,;MMP25-AS1,intron_variant,,ENST00000576250,;MMP25-AS1,upstream_gene_variant,,ENST00000573130,;MMP25-AS1,downstream_gene_variant,,ENST00000572427,;MMP25-AS1,upstream_gene_variant,,ENST00000570949,;MMP25-AS1,upstream_gene_variant,,ENST00000573878,;MMP25-AS1,upstream_gene_variant,,ENST00000572930,;MMP25-AS1,downstream_gene_variant,,ENST00000572222,;MMP25,downstream_gene_variant,,ENST00000570755,;MMP25,non_coding_transcript_exon_variant,,ENST00000575441,;	A	ENST00000336577	Transcript	missense_variant	1141/3554	904/1689	302/562	P/T	Ccg/Acg		1		1	MMP25	HGNC	HGNC:14246	protein_coding	YES	CCDS10492.1	ENSP00000337816	Q9NPA2		UPI000003DC71	NM_022468.4	tolerated(0.07)		6/10		PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF142,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	3057375	3057375	C	A	1	0	0	0	0	1	0	0	0	9625	623	22	2		2	MMP25	16	3057375	Missense_Mutation	SNP	C	C3N-00549_TP		3057375	87280970	340	16530											
GRIN2A	0	.	GRCh38	chr16	9764850	9764850	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaatgtttttggctgaccgGaggagttttaacatgttgct	9	15	12	5	1	0	1	0	1	0	0	0	4	0	3	1	3	2	5	1	3	2	5	rs569998469		C3N-00549_TP	C3N-00549_NB	G	G																c.2694C>A	p.=	p.L898L	ENST00000396573	14/14	536	351	185	453	452	1	strelka-varscan-mutect	GRIN2A,synonymous_variant,p.=,ENST00000396573,NM_000833.4;GRIN2A,synonymous_variant,p.=,ENST00000396575,;GRIN2A,synonymous_variant,p.=,ENST00000330684,NM_001134407.2;GRIN2A,synonymous_variant,p.=,ENST00000562109,NM_001134408.2;GRIN2A,synonymous_variant,p.=,ENST00000535259,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000636273,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000461292,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000463531,;	T	ENST00000396573	Transcript	synonymous_variant	3004/14450	2694/4395	898/1464	L	ctC/ctA	rs569998469	1		-1	GRIN2A	HGNC	HGNC:4585	protein_coding	YES	CCDS10539.1	ENSP00000379818	Q12879	Q547U9	UPI000000D7AB	NM_000833.4			14/14		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF16,Pfam_domain:PF10565										benign							LOW	1	SNV	1		1	1										PASS		rs569998469	.												T	2	4	51	9764850	9764850	G	T	1	0	0	0	0	0	0	0	1	6661	1161	41	2		2	GRIN2A	16	9764850	Silent	SNP	G	C3N-00549_TP	6707475	9764850	80573495	341	16531											
SMG1	0	.	GRCh38	chr16	18849948	18849948	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacattttatgcaggtctcaCctctccatggtgcagtgggt	8	13	10	10	0	2	0	1	0	2	0	4	0	2	0	2	3	3	2	2	3	2	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.5461+1G>T		p.X1821_splice	ENST00000446231		136	77	59	112	112	0	strelka-varscan-mutect	SMG1,splice_donor_variant,,ENST00000446231,NM_015092.4;SMG1,splice_donor_variant,,ENST00000565324,;SMG1,splice_donor_variant,,ENST00000563448,;SMG1,upstream_gene_variant,,ENST00000562668,;	A	ENST00000446231	Transcript	splice_donor_variant	-/16115	5461/10986	1821/3661				1		-1	SMG1	HGNC	HGNC:30045	protein_coding	YES	CCDS45430.1	ENSP00000402515	Q96Q15		UPI00004F8E22	NM_015092.4				35/62																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	51	18849948	18849948	C	A	1	0	0	0	0	0	0	1	0	15089	521	18	2		2	SMG1	16	18849948	Splice_Site	SNP	C	C3N-00549_TP	9085098	18849948	71488397	342	16532											
ACSM2A	0	.	GRCh38	chr16	20460217	20460217	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaactggtgtccctgcagTggggccaccaggaagtgccg	7	6	16	12	1	0	0	0	0	0	0	1	1	1	1	4	5	3	2	4	5	2	0	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.103T>A	p.Trp35Arg	p.W35R	ENST00000573854	2/14	138	82	56	179	179	0	strelka-varscan-mutect	ACSM2A,missense_variant,p.Trp35Arg,ENST00000573854,NM_001308172.1,NM_001010845.2;ACSM2A,missense_variant,p.Trp35Arg,ENST00000396104,;ACSM2A,missense_variant,p.Trp35Arg,ENST00000575690,;ACSM2A,missense_variant,p.Trp35Arg,ENST00000219054,;ACSM2A,missense_variant,p.Trp35Arg,ENST00000571894,;ACSM2A,missense_variant,p.Trp35Arg,ENST00000576361,;ACSM2A,intron_variant,,ENST00000417235,NM_001308169.1;ACSM2A,intron_variant,,ENST00000574251,;ACSM2A,intron_variant,,ENST00000575558,;ACSM2A,missense_variant,p.Trp35Arg,ENST00000574692,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000570698,;	A	ENST00000573854	Transcript	missense_variant	217/2837	103/1734	35/577	W/R	Tgg/Agg		1		1	ACSM2A	HGNC	HGNC:32017	protein_coding	YES	CCDS32401.1	ENSP00000459451	Q08AH3		UPI0000251E27	NM_001308172.1,NM_001010845.2	tolerated(0.23)		2/14		hmmpanther:PTHR24095:SF188,hmmpanther:PTHR24095,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		rs1181528729	.												A	3	1	51	20460217	20460217	T	A	1	0	0	0	0	1	0	0	0	225	1696	59	4		4	ACSM2A	16	20460217	Missense_Mutation	SNP	T	C3N-00549_TP	1610269	20460217	69878128	343	16533											
ARHGAP17	0	.	GRCh38	chr16	24942052	24942052	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccgcttcctctccagggtCcccgagtcagagtcgtttcc	4	10	11	16	3	2	1	1	0	1	1	7	2	5	1	6	2	0	2	6	2	0	2			C3N-00549_TP	C3N-00549_NB	C	C																c.1425G>T	p.=	p.G475G	ENST00000289968	16/20	228	149	79	217	217	0	strelka-varscan-mutect	ARHGAP17,synonymous_variant,p.=,ENST00000289968,NM_001006634.2;ARHGAP17,synonymous_variant,p.=,ENST00000303665,NM_018054.5;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000572314,;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000575412,;ARHGAP17,upstream_gene_variant,,ENST00000575283,;ARHGAP17,downstream_gene_variant,,ENST00000570841,;	A	ENST00000289968	Transcript	synonymous_variant	1495/3461	1425/2646	475/881	G	ggG/ggT	COSM4662728,COSM4662729	1		-1	ARHGAP17	HGNC	HGNC:18239	protein_coding	YES	CCDS32409.1	ENSP00000289968	Q68EM7		UPI00000433FD	NM_001006634.2			16/20		hmmpanther:PTHR14130,hmmpanther:PTHR14130:SF3											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1384358253	.												A	2	1	51	24942052	24942052	C	A	1	0	0	0	0	0	0	0	1	991	842	30	2		2	ARHGAP17	16	24942052	Silent	SNP	C	C3N-00549_TP	4481835	24942052	65396293	344	16534											
ITGAM	0	.	GRCh38	chr16	31325286	31325286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggactgcctcgtggtgggtgGgccccgggagttcaacgtga	5	8	18	10	3	1	1	1	1	0	0	2	3	1	3	3	5	2	1	3	5	1	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.2390G>T	p.Gly797Val	p.G797V	ENST00000544665	20/30	78	45	33	62	62	0	strelka-varscan-mutect	ITGAM,missense_variant,p.Gly797Val,ENST00000544665,NM_001145808.1;ITGAM,missense_variant,p.Gly796Val,ENST00000287497,NM_000632.3;ITGAM,downstream_gene_variant,,ENST00000567031,;ITGAM,non_coding_transcript_exon_variant,,ENST00000561838,;ITGAM,upstream_gene_variant,,ENST00000569746,;ITGAM,upstream_gene_variant,,ENST00000567178,;	T	ENST00000544665	Transcript	missense_variant	2461/4718	2390/3462	797/1153	G/V	gGg/gTg		1		1	ITGAM	HGNC	HGNC:6149	protein_coding	YES	CCDS54004.1	ENSP00000441691	P11215		UPI000004B26A	NM_001145808.1	tolerated(0.57)		20/30		Gene3D:2.60.40.1510,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		rs1198454343	.												T	3	4	51	31325286	31325286	G	T	1	0	0	0	0	1	0	0	0	7794	1232	43	2		2	ITGAM	16	31325286	Missense_Mutation	SNP	G	C3N-00549_TP	6383234	31325286	59013059	345	16535											
CDH8	0	.	GRCh38	chr16	61817636	61817636	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattttgactgtcgccgtgtCtttaaagggccccctgccac	6	12	10	13	2	1	1	0	1	1	0	2	2	1	1	4	1	1	0	4	1	2	4	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1120G>T	p.Asp374Tyr	p.D374Y	ENST00000577390	7/12	192	99	93	160	160	0	strelka-varscan-mutect	CDH8,missense_variant,p.Asp374Tyr,ENST00000577390,NM_001796.4;CDH8,missense_variant,p.Asp374Tyr,ENST00000577730,;CDH8,missense_variant,p.Asp374Tyr,ENST00000584337,;CDH8,missense_variant,p.Asp374Tyr,ENST00000299345,;CDH8,missense_variant,p.Asp374Tyr,ENST00000583382,;CDH8,missense_variant,p.Asp374Tyr,ENST00000585315,;CDH8,non_coding_transcript_exon_variant,,ENST00000582242,;	A	ENST00000577390	Transcript	missense_variant	2075/9721	1120/2400	374/799	D/Y	Gac/Tac		1		-1	CDH8	HGNC	HGNC:1767	protein_coding	YES	CCDS10802.1	ENSP00000462701	P55286		UPI0000126D9F	NM_001796.4	deleterious(0)		7/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF273,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	61817636	61817636	C	A	1	0	0	0	0	1	0	0	0	2819	913	32	2		2	CDH8	16	61817636	Missense_Mutation	SNP	C	C3N-00549_TP	30492350	61817636	28520709	346	16536											
RANBP10	0	.	GRCh38	chr16	67729455	67729455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcttggtggacgcgaCgccattgctacagctgggac	6	11	13	11	3	1	0	0	0	1	0	1	3	1	2	1	3	4	3	1	3	1	4	rs758630219		C3N-00549_TP	C3N-00549_NB	C	C																c.1177G>C	p.Val393Leu	p.V393L	ENST00000317506	10/14	190	103	87	142	142	0	strelka-varscan-mutect	RANBP10,missense_variant,p.Val393Leu,ENST00000317506,NM_020850.1;RANBP10,missense_variant,p.Val393Leu,ENST00000630626,;RANBP10,missense_variant,p.Val393Leu,ENST00000602677,;RANBP10,missense_variant,p.Val337Leu,ENST00000448631,;RANBP10,3_prime_UTR_variant,,ENST00000602506,;RANBP10,downstream_gene_variant,,ENST00000602525,;RANBP10,downstream_gene_variant,,ENST00000602638,;	G	ENST00000317506	Transcript	missense_variant	1293/5341	1177/1863	393/620	V/L	Gtc/Ctc	rs758630219,COSM271959,COSM5113570,COSM972567	1		-1	RANBP10	HGNC	HGNC:29285	protein_coding	YES	CCDS32469.1	ENSP00000316589	Q6VN20		UPI00001C1FA6	NM_020850.1	tolerated(0.16)		10/14		Pfam_domain:PF10607											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs758630219	.												G	3	3	51	67729455	67729455	C	G	1	0	0	0	0	1	0	0	0	13185	536	19	4		4	RANBP10	16	67729455	Missense_Mutation	SNP	C	C3N-00549_TP	5911819	67729455	22608890	347	16537											
ZFP90	0	.	GRCh38	chr16	68564353	68564353	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagaattcatactggagaGaaaccctatgaatgtaatga	17	9	8	7	0	1	4	1	2	0	2	1	6	1	5	1	1	2	1	1	1	6	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1566G>T	p.Glu522Asp	p.E522D	ENST00000570495	5/5	184	104	80	130	130	0	strelka-varscan-mutect	ZFP90,missense_variant,p.Glu522Asp,ENST00000570495,NM_001305203.1;ZFP90,missense_variant,p.Glu522Asp,ENST00000398253,NM_133458.2;ZFP90,missense_variant,p.Glu522Asp,ENST00000563169,;ZFP90,intron_variant,,ENST00000611381,NM_001305204.1;ZFP90,intron_variant,,ENST00000573113,;ZFP90,downstream_gene_variant,,ENST00000564323,;ZFP90,downstream_gene_variant,,ENST00000573685,;ZFP90,downstream_gene_variant,,ENST00000562156,;ZFP90,3_prime_UTR_variant,,ENST00000564558,;ZFP90,non_coding_transcript_exon_variant,,ENST00000571720,;ZFP90,downstream_gene_variant,,ENST00000571809,;ZFP90,downstream_gene_variant,,ENST00000576805,;ZFP90,downstream_gene_variant,,ENST00000569323,;	T	ENST00000570495	Transcript	missense_variant	1858/4636	1566/1911	522/636	E/D	gaG/gaT		1		1	ZFP90	HGNC	HGNC:23329	protein_coding	YES	CCDS42183.1	ENSP00000460547	Q8TF47		UPI000004C096	NM_001305203.1	deleterious(0.01)		5/5		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF143,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	68564353	68564353	G	T	1	0	0	0	0	1	0	0	0	18231	933	33	2		2	ZFP90	16	68564353	Missense_Mutation	SNP	G	C3N-00549_TP	834898	68564353	21773992	348	16538											
ZNF469	0	.	GRCh38	chr16	88439198	88439198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccccccaagaggggcacaGctgtccacggtgctgaacct	8	5	13	15	1	0	2	0	1	0	1	1	2	1	2	5	4	3	3	5	4	2	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.11644G>T	p.Ala3882Ser	p.A3882S	ENST00000437464	2/2	419	210	209	364	364	0	strelka-varscan-mutect	ZNF469,missense_variant,p.Ala3910Ser,ENST00000565624,;ZNF469,missense_variant,p.Ala3882Ser,ENST00000437464,NM_001127464.2;	T	ENST00000437464	Transcript	missense_variant	11644/13203	11644/11778	3882/3925	A/S	Gct/Tct		1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2	tolerated(0.09)		2/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	51	88439198	88439198	G	T	1	0	0	0	0	1	0	0	0	18500	971	34	2		2	ZNF469	16	88439198	Missense_Mutation	SNP	G	C3N-00549_TP	19874845	88439198	1899147	349	16539											
RAP1GAP2	0	.	GRCh38	chr17	2905303	2905303	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaggagctggccaacAgctcggatgcgaccctccca	10	4	13	14	2	0	0	0	0	0	0	2	4	1	3	3	4	5	3	3	4	2	0	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.100A>T	p.Ser34Cys	p.S34C	ENST00000254695	3/25	177	123	54	155	155	0	strelka-varscan-mutect	RAP1GAP2,missense_variant,p.Ser34Cys,ENST00000254695,NM_015085.4;RAP1GAP2,missense_variant,p.Ser34Cys,ENST00000366401,NM_001100398.1;RAP1GAP2,missense_variant,p.Ser15Cys,ENST00000540393,;RAP1GAP2,missense_variant,p.Ser75Cys,ENST00000637138,;RAP1GAP2,missense_variant,p.Ser34Cys,ENST00000542807,;	T	ENST00000254695	Transcript	missense_variant	190/6661	100/2193	34/730	S/C	Agc/Tgc		1		1	RAP1GAP2	HGNC	HGNC:29176	protein_coding	YES	CCDS45573.1	ENSP00000254695	Q684P5		UPI0000D622A3	NM_015085.4	tolerated(0.08)		3/25		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	2905303	2905303	A	T	1	0	0	0	0	1	0	0	0	13197	188	7	4		4	RAP1GAP2	17	2905303	Missense_Mutation	SNP	A	C3N-00549_TP		2905303	80352138	350	16540											
ENO3	0	.	GRCh38	chr17	4953089	4953089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaacatcaacaatactctgGgccctgctctgctgcaaaag	13	8	8	12	0	3	1	1	0	2	1	3	1	3	1	1	1	6	3	1	1	6	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.220G>T	p.Gly74Cys	p.G74C	ENST00000323997	4/12	698	442	256	481	480	1	strelka-varscan-mutect	ENO3,missense_variant,p.Gly74Cys,ENST00000323997,NM_001976.4,NM_053013.3;ENO3,missense_variant,p.Gly74Cys,ENST00000518175,;ENO3,missense_variant,p.Gly74Cys,ENST00000522301,;ENO3,missense_variant,p.Gly74Cys,ENST00000519602,;ENO3,missense_variant,p.Gly74Cys,ENST00000520221,;ENO3,missense_variant,p.Gly74Cys,ENST00000521811,;ENO3,missense_variant,p.Gly74Cys,ENST00000522798,;ENO3,missense_variant,p.Gly74Cys,ENST00000522249,;ENO3,intron_variant,,ENST00000519584,NM_001193503.1;PFN1,upstream_gene_variant,,ENST00000225655,NM_005022.3;PFN1,upstream_gene_variant,,ENST00000572383,;ENO3,downstream_gene_variant,,ENST00000519266,;ENO3,3_prime_UTR_variant,,ENST00000521659,;ENO3,non_coding_transcript_exon_variant,,ENST00000519834,;ENO3,non_coding_transcript_exon_variant,,ENST00000571235,;ENO3,upstream_gene_variant,,ENST00000522954,;ENO3,upstream_gene_variant,,ENST00000522425,;ENO3,downstream_gene_variant,,ENST00000518972,;ENO3,downstream_gene_variant,,ENST00000519300,;	T	ENST00000323997	Transcript	missense_variant	352/1521	220/1305	74/434	G/C	Ggc/Tgc		1		1	ENO3	HGNC	HGNC:3354	protein_coding	YES	CCDS11062.1	ENSP00000324105	P13929		UPI000016A894	NM_001976.4,NM_053013.3	deleterious_low_confidence(0)		4/12		Gene3D:3.30.390.10,HAMAP:MF_00318,Pfam_domain:PF03952,PIRSF_domain:PIRSF001400,hmmpanther:PTHR11902,hmmpanther:PTHR11902:SF5,SMART_domains:SM01193,Superfamily_domains:SSF54826,TIGRFAM_domain:TIGR01060																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	51	4953089	4953089	G	T	1	0	0	0	0	1	0	0	0	4967	1232	43	2		2	ENO3	17	4953089	Missense_Mutation	SNP	G	C3N-00549_TP	2047786	4953089	78304352	351	16541											
ZNF232	0	.	GRCh38	chr17	5105990	5105990	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaggccttcccacactcaTtacactcatagggcttctct	10	12	5	14	0	3	0	2	0	1	0	5	0	4	0	2	2	1	1	2	2	4	5	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.1169A>G	p.Asn390Ser	p.N390S	ENST00000250076	5/5	186	105	81	185	185	0	strelka-varscan-mutect	ZNF232,missense_variant,p.Asn390Ser,ENST00000250076,NM_014519.2;ZNF232,missense_variant,p.Asn381Ser,ENST00000575898,;ZNF232,downstream_gene_variant,,ENST00000575538,;ZNF232,3_prime_UTR_variant,,ENST00000570486,;ZNF232,3_prime_UTR_variant,,ENST00000573015,;ZNF232,non_coding_transcript_exon_variant,,ENST00000574735,;ZNF232,downstream_gene_variant,,ENST00000572468,;ZNF232,downstream_gene_variant,,ENST00000571076,;	C	ENST00000250076	Transcript	missense_variant	1824/2179	1169/1335	390/444	N/S	aAt/aGt		1		-1	ZNF232	HGNC	HGNC:13026	protein_coding	YES	CCDS11068.1	ENSP00000250076	Q9UNY5		UPI00001D69EB	NM_014519.2	tolerated(0.23)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF54,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	51	5105990	5105990	T	C	1	0	0	0	0	1	0	0	0	18362	1493	52	5		5	ZNF232	17	5105990	Missense_Mutation	SNP	T	C3N-00549_TP	152901	5105990	78151451	352	16542											
SLC13A5	0	.	GRCh38	chr17	6706683	6706683	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagcgtgcgcagggcGatcctcttgtgcaggttcca	7	8	15	11	3	1	1	0	0	1	1	3	3	3	2	2	3	3	3	2	3	0	2	rs761010502		C3N-00549_TP	C3N-00549_NB	G	G																c.327C>A	p.=	p.I109I	ENST00000433363	3/12	243	144	99	222	222	0	strelka-varscan-mutect	SLC13A5,synonymous_variant,p.=,ENST00000433363,NM_177550.4;SLC13A5,synonymous_variant,p.=,ENST00000293800,NM_001284509.1;SLC13A5,synonymous_variant,p.=,ENST00000381074,NM_001284510.1;SLC13A5,synonymous_variant,p.=,ENST00000573648,NM_001143838.2;SLC13A5,synonymous_variant,p.=,ENST00000572352,;SLC13A5,non_coding_transcript_exon_variant,,ENST00000576323,;SLC13A5,3_prime_UTR_variant,,ENST00000572094,;SLC13A5,3_prime_UTR_variant,,ENST00000575230,;SLC13A5,upstream_gene_variant,,ENST00000574824,;	T	ENST00000433363	Transcript	synonymous_variant	561/3435	327/1707	109/568	I	atC/atA	rs761010502	1		-1	SLC13A5	HGNC	HGNC:23089	protein_coding	YES	CCDS11079.1	ENSP00000406220	Q86YT5		UPI000000D834	NM_177550.4			3/12		hmmpanther:PTHR10283:SF82,hmmpanther:PTHR10283,Pfam_domain:PF00939																	LOW	1	SNV	1			1										PASS		rs761010502	.												T	2	4	51	6706683	6706683	G	T	1	0	0	0	0	0	0	0	1	14660	1048	37	1		1	SLC13A5	17	6706683	Silent	SNP	G	C3N-00549_TP	1600693	6706683	76550758	353	16543											
EIF5A	0	.	GRCh38	chr17	7309685	7309685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgcaggggcctcagccaCcttcccaatgcagtgctcag	9	7	11	14	0	2	1	2	0	0	1	3	1	3	1	4	2	4	3	4	2	1	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.140C>G	p.Thr47Ser	p.T47S	ENST00000336452	2/6	546	337	209	539	539	0	strelka-varscan-mutect	EIF5A,missense_variant,p.Thr17Ser,ENST00000336458,NM_001970.4;EIF5A,missense_variant,p.Thr17Ser,ENST00000576930,;EIF5A,missense_variant,p.Thr17Ser,ENST00000571955,;EIF5A,missense_variant,p.Thr17Ser,ENST00000416016,NM_001143762.1;EIF5A,missense_variant,p.Thr17Ser,ENST00000419711,NM_001143761.1;EIF5A,missense_variant,p.Thr47Ser,ENST00000336452,NM_001143760.1;EIF5A,missense_variant,p.Thr17Ser,ENST00000573542,;EIF5A,missense_variant,p.Thr17Ser,ENST00000572815,;EIF5A,missense_variant,p.Thr17Ser,ENST00000573714,;GPS2,downstream_gene_variant,,ENST00000380728,;GPS2,downstream_gene_variant,,ENST00000389167,NM_004489.4;GPS2,downstream_gene_variant,,ENST00000570780,;GPS2,downstream_gene_variant,,ENST00000577040,;GPS2,downstream_gene_variant,,ENST00000573684,;GPS2,downstream_gene_variant,,ENST00000574458,;EIF5A,non_coding_transcript_exon_variant,,ENST00000355068,;EIF5A,non_coding_transcript_exon_variant,,ENST00000575001,;RP11-542C16.2,downstream_gene_variant,,ENST00000575474,;RP11-542C16.2,downstream_gene_variant,,ENST00000315601,;GPS2,downstream_gene_variant,,ENST00000571697,;GPS2,downstream_gene_variant,,ENST00000571569,;GPS2,downstream_gene_variant,,ENST00000572172,;GPS2,downstream_gene_variant,,ENST00000572363,;GPS2,downstream_gene_variant,,ENST00000571098,;GPS2,downstream_gene_variant,,ENST00000572707,;GPS2,downstream_gene_variant,,ENST00000573059,;GPS2,downstream_gene_variant,,ENST00000573807,;GPS2,downstream_gene_variant,,ENST00000571695,;GPS2,downstream_gene_variant,,ENST00000574201,;	G	ENST00000336452	Transcript	missense_variant	188/1256	140/555	47/184	T/S	aCc/aGc		1		1	EIF5A	HGNC	HGNC:3300	protein_coding	YES	CCDS45601.1	ENSP00000336702	P63241		UPI00001B5C0C	NM_001143760.1	deleterious(0.03)		2/6		Gene3D:2.30.30.30,PIRSF_domain:PIRSF003025,hmmpanther:PTHR11673,hmmpanther:PTHR11673:SF11,Superfamily_domains:SSF50104,TIGRFAM_domain:TIGR00037																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	51	7309685	7309685	C	G	1	0	0	0	0	1	0	0	0	4874	507	18	4		4	EIF5A	17	7309685	Missense_Mutation	SNP	C	C3N-00549_TP	603002	7309685	75947756	354	16544											
TP53	0	.	GRCh38	chr17	7674229	7674229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgggcctccggttcatgCcgcccatgcaggaactgtta	7	9	13	12	2	1	0	1	0	0	0	2	2	2	2	4	4	3	3	4	4	2	2	rs121912656		C3N-00549_TP	C3N-00549_NB	C	C																c.734G>T	p.Gly245Val	p.G245V	ENST00000269305	7/11	362	248	114	292	291	1	strelka-varscan-mutect	TP53,missense_variant,p.Gly245Val,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Gly245Val,ENST00000420246,;TP53,missense_variant,p.Gly206Val,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Gly206Val,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Gly245Val,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Gly206Val,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Gly245Val,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Gly206Val,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Gly245Val,ENST00000445888,;TP53,missense_variant,p.Gly206Val,ENST00000619485,;TP53,missense_variant,p.Gly113Val,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Gly86Val,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Gly113Val,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Gly86Val,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Gly113Val,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Gly86Val,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Gly245Val,ENST00000359597,;TP53,missense_variant,p.Gly234Val,ENST00000615910,;TP53,missense_variant,p.Gly245Val,ENST00000413465,;TP53,missense_variant,p.Gly113Val,ENST00000509690,;TP53,missense_variant,p.Gly152Val,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Gly206Val,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	924/2579	734/1182	245/393	G/V	gGc/gTc	rs121912656,CM010464,CM900209,TP53_g.13371G>C,TP53_g.13371del,TP53_g.13371G>A,TP53_g.13371G>T,COSM11196,COSM131475,COSM131476,COSM131477,COSM1640832,COSM1646856,COSM179805,COSM179806,COSM179807,COSM3388184,COSM3388185,COSM3388186,COSM3388187,COSM3388188,COSM3388189,COSM3717638,COSM43606,COSM43965,COSM45770	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										pathogenic	0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs121912656	.												A	3	1	51	7674229	7674229	C	A	1	0	0	0	0	1	0	0	0	16859	739	26	2		2	TP53	17	7674229	Missense_Mutation	SNP	C	C3N-00549_TP	364544	7674229	75583212	355	16545											
TP53	0	.	GRCh38	chr17	7676185	7676185	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcattctgggagcttCatctggacctgggtcttcag	5	13	12	11	0	6	0	2	0	4	0	6	2	6	2	1	4	1	2	1	4	0	3			C3N-00549_TP	C3N-00549_NB	C	C																c.184G>T	p.Glu62Ter	p.E62*	ENST00000269305	4/11	304	183	121	259	259	0	strelka-varscan-mutect	TP53,stop_gained,p.Glu62Ter,ENST00000617185,NM_001126114.2;TP53,stop_gained,p.Glu62Ter,ENST00000420246,;TP53,stop_gained,p.Glu23Ter,ENST00000622645,NM_001276696.1;TP53,stop_gained,p.Glu23Ter,ENST00000610292,NM_001126118.1;TP53,stop_gained,p.Glu62Ter,ENST00000455263,NM_001126113.2;TP53,stop_gained,p.Glu23Ter,ENST00000610538,NM_001276695.1;TP53,stop_gained,p.Glu62Ter,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,stop_gained,p.Glu23Ter,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,stop_gained,p.Glu62Ter,ENST00000445888,;TP53,stop_gained,p.Glu23Ter,ENST00000619485,;TP53,stop_gained,p.Glu62Ter,ENST00000359597,;TP53,stop_gained,p.Glu62Ter,ENST00000615910,;TP53,stop_gained,p.Glu62Ter,ENST00000413465,;TP53,stop_gained,p.Glu62Ter,ENST00000508793,;TP53,stop_gained,p.Glu62Ter,ENST00000604348,;TP53,stop_gained,p.Glu62Ter,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000510385,NM_001126116.1;TP53,upstream_gene_variant,,ENST00000618944,NM_001276698.1;TP53,upstream_gene_variant,,ENST00000504290,NM_001126117.1;TP53,upstream_gene_variant,,ENST00000610623,NM_001276699.1;TP53,upstream_gene_variant,,ENST00000504937,NM_001126115.1;TP53,upstream_gene_variant,,ENST00000619186,NM_001276697.1;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,stop_gained,p.Glu23Ter,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	stop_gained	374/2579	184/1182	62/393	E/*	Gaa/Taa	CM120852,TP53_g.11415G>T,COSM10827,COSM116688,COSM116689,COSM116690,COSM1664640,COSM1664641,COSM1664642,COSM4995784,COSM4995785	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5			4/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6											0,0,1,1,1,1,1,1,1,1,1						HIGH	1	SNV	1		1,0,1,1,1,1,1,1,1,1,1	1										PASS		.	.												A	4	1	51	7676185	7676185	C	A	1	0	0	0	0	0	1	0	0	16859	835	29	2		2	TP53	17	7676185	Nonsense_Mutation	SNP	C	C3N-00549_TP	1956	7676185	75581256	356	16546											
ALOXE3	0	.	GRCh38	chr17	8110440	8110440	+	Frame_Shift_Del	DEL	G	G	-																															tgagccacagcaggcacagtGgggcggccacgtactgctgg																								novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1442delC	p.Pro481HisfsTer99	p.P481Hfs*99	ENST00000318227	9/16	107	63	44	67	67	0	sindel-varindel-pindel	ALOXE3,frameshift_variant,p.Pro505HisfsTer99,ENST00000380149,;ALOXE3,frameshift_variant,p.Pro349HisfsTer99,ENST00000448843,NM_021628.2;ALOXE3,frameshift_variant,p.Pro481HisfsTer99,ENST00000318227,NM_001165960.1;	-	ENST00000318227	Transcript	frameshift_variant	1711/3053	1442/2532	481/843	P/X	cCa/ca		1		-1	ALOXE3	HGNC	HGNC:13743	protein_coding	YES	CCDS54084.1	ENSP00000314879	Q9BYJ1		UPI0000EE63AA	NM_001165960.1			9/16		Gene3D:3.10.450.60,Pfam_domain:PF00305,PROSITE_profiles:PS51393,hmmpanther:PTHR11771,hmmpanther:PTHR11771:SF62,Superfamily_domains:SSF48484																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	51	8110440	8110440	G	-	1	0	1	0	1	0	0	0	0	642	1348	47	0		0	ALOXE3	17	8110440	Frame_Shift_Del	DEL	G	C3N-00549_TP	434255	8110440	75147001	357	16547											
SPDYE4	0	.	GRCh38	chr17	8753340	8753340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcctccatctcctctgggGaaacccacgtcctccagcgc	6	8	7	20	2	2	0	0	0	2	0	7	1	6	1	7	2	2	0	7	2	1	0			C3N-00549_TP	C3N-00549_NB	G	G																c.635C>A	p.Ser212Tyr	p.S212Y	ENST00000328794	5/6	130	78	52	105	105	0	strelka-varscan-mutect	SPDYE4,missense_variant,p.Ser212Tyr,ENST00000328794,NM_001128076.1;SPDYE4,downstream_gene_variant,,ENST00000580999,;SPDYE4,3_prime_UTR_variant,,ENST00000582989,;	T	ENST00000328794	Transcript	missense_variant	812/923	635/714	212/237	S/Y	tCc/tAc	COSM5539614	1		-1	SPDYE4	HGNC	HGNC:35463	protein_coding	YES	CCDS45609.1	ENSP00000329522	A6NLX3		UPI0000DD83CC	NM_001128076.1	deleterious(0.01)		5/6		hmmpanther:PTHR31156,Pfam_domain:PF11357											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	51	8753340	8753340	G	T	1	0	0	0	0	1	0	0	0	15380	1174	41	2		2	SPDYE4	17	8753340	Missense_Mutation	SNP	G	C3N-00549_TP	642900	8753340	74504101	358	16548											
MYH1	0	.	GRCh38	chr17	10498786	10498786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggtcacagtcatggcGggaggactgcagggcatgtg	9	6	17	9	1	2	0	2	0	0	0	2	2	2	2	0	5	2	3	0	5	0	0	rs3744564		C3N-00549_TP	C3N-00549_NB	G	G																c.4021C>T	p.Arg1341Cys	p.R1341C	ENST00000226207	30/40	202	122	80	167	167	0	strelka-varscan-mutect	MYH1,missense_variant,p.Arg1341Cys,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000226207	Transcript	missense_variant	4116/6024	4021/5820	1341/1939	R/C	Cgc/Tgc	rs3744564,COSM361171	1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3	deleterious(0)		30/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,Superfamily_domains:SSF90257											0,1						MODERATE		SNV	5		0,1	1										PASS		rs3744564	.												A	3	1	51	10498786	10498786	G	A	1	0	0	0	0	1	0	0	0	10029	1116	39	1		1	MYH1	17	10498786	Missense_Mutation	SNP	G	C3N-00549_TP	1745446	10498786	72758655	359	16549											
MYH1	0	.	GRCh38	chr17	10512780	10512780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggttggtggtgatcaggagCatttctgggtcacagaattc	8	12	15	6	0	3	2	2	1	1	1	4	3	3	3	0	5	1	2	0	5	1	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.909G>T	p.Met303Ile	p.M303I	ENST00000226207	11/40	314	225	89	245	244	1	strelka-varscan-mutect	MYH1,missense_variant,p.Met303Ile,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000226207	Transcript	missense_variant	1004/6024	909/5820	303/1939	M/I	atG/atT		1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3	deleterious(0.02)		11/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF454,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	51	10512780	10512780	C	A	1	0	0	0	0	1	0	0	0	10029	724	25	2		2	MYH1	17	10512780	Missense_Mutation	SNP	C	C3N-00549_TP	13994	10512780	72744661	360	16550											
EFCAB5	0	.	GRCh38	chr17	30059683	30059683	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catacaaggagggaatggaaAaagaatctatgaagaaaggt	20	6	12	3	0	1	3	0	1	1	2	1	6	1	6	0	4	1	0	0	4	9	2	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.2719A>T	p.Lys907Ter	p.K907*	ENST00000394835	14/23	96	52	44	74	74	0	strelka-varscan-mutect	EFCAB5,stop_gained,p.Lys907Ter,ENST00000394835,NM_198529.3;EFCAB5,stop_gained,p.Lys706Ter,ENST00000588978,;EFCAB5,intron_variant,,ENST00000419434,;EFCAB5,intron_variant,,ENST00000536908,NM_001145053.1;AC104984.4,non_coding_transcript_exon_variant,,ENST00000583250,;RNY4P13,upstream_gene_variant,,ENST00000384284,;EFCAB5,stop_gained,p.Lys907Ter,ENST00000440741,;EFCAB5,non_coding_transcript_exon_variant,,ENST00000581617,;EFCAB5,intron_variant,,ENST00000423598,;RNY4P13,upstream_gene_variant,,ENST00000590718,;	T	ENST00000394835	Transcript	stop_gained	2911/5132	2719/4512	907/1503	K/*	Aaa/Taa		1		1	EFCAB5	HGNC	HGNC:24801	protein_coding	YES	CCDS11254.2	ENSP00000378312	A4FU69		UPI0000E59EF5	NM_198529.3			14/23		Gene3D:1.10.238.10,hmmpanther:PTHR31938,hmmpanther:PTHR31938:SF6																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	51	30059683	30059683	A	T	1	0	0	0	0	0	1	0	0	4772	15	1	4		4	EFCAB5	17	30059683	Nonsense_Mutation	SNP	A	C3N-00549_TP	19546903	30059683	53197758	361	16551											
NF1	0	.	GRCh38	chr17	31230879	31230879	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgacagactgggttatgGgaacatcaaaccaagcagca	15	6	10	10	0	1	2	1	1	0	1	1	3	1	3	2	2	4	3	2	2	4	1			C3N-00549_TP	C3N-00549_NB	G	G																c.3151G>T	p.Gly1051Ter	p.G1051*	ENST00000358273	24/58	303	182	121	206	206	0	strelka-varscan-mutect	NF1,stop_gained,p.Gly1051Ter,ENST00000358273,NM_001042492.2;NF1,stop_gained,p.Gly1051Ter,ENST00000356175,NM_000267.3;NF1,stop_gained,p.Gly717Ter,ENST00000456735,;NF1,stop_gained,p.Gly1085Ter,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000466819,;NF1,upstream_gene_variant,,ENST00000479614,;	T	ENST00000358273	Transcript	stop_gained	3534/12425	3151/8520	1051/2839	G/*	Gga/Tga	CD982826	1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2			24/58		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF90																	HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	51	31230879	31230879	G	T	1	0	0	0	0	0	1	0	0	10393	1233	43	2		2	NF1	17	31230879	Nonsense_Mutation	SNP	G	C3N-00549_TP	1171196	31230879	52026562	362	16552											
C17orf50	0	.	GRCh38	chr17	35764256	35764256	+	Missense_Mutation	SNP	C	C	G																															ggtggcgctgctgcggcgcgCggacagcggcttctggggct																								novel		C3N-00549_TP	C3N-00549_NB	C	C																c.263C>G	p.Ala88Gly	p.A88G	ENST00000605587	2/3	228	140	88	198	198	0	strelka-varscan-mutect	C17orf50,missense_variant,p.Ala88Gly,ENST00000605587,NM_145272.3;C17orf50,synonymous_variant,p.=,ENST00000603305,;C17orf50,intron_variant,,ENST00000604830,;MMP28,intron_variant,,ENST00000615317,;MMP28,downstream_gene_variant,,ENST00000615136,NM_032950.3;MMP28,downstream_gene_variant,,ENST00000605424,NM_024302.4;MMP28,downstream_gene_variant,,ENST00000612292,;MMP28,intron_variant,,ENST00000619655,;TAF15,intron_variant,,ENST00000603067,;	G	ENST00000605587	Transcript	missense_variant	295/1018	263/525	88/174	A/G	gCg/gGg		1		1	C17orf50	HGNC	HGNC:29581	protein_coding	YES	CCDS42298.1	ENSP00000475146	Q8WW18		UPI00002016EC	NM_145272.3	deleterious(0.01)		2/3		hmmpanther:PTHR37878:SF1,hmmpanther:PTHR37878,Pfam_domain:PF15470																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	51	35764256	35764256	C	G	1	0	0	0	0	1	0	0	0	1881	768	27	4		4	C17orf50	17	35764256	Missense_Mutation	SNP	C	C3N-00549_TP	4533377	35764256	47493185	363	16553	358	2									
C17orf50	0	.	GRCh38	chr17	35764257	35764257	+	Silent	SNP	G	G	A																															gtggcgctgctgcggcgcgcGgacagcggcttctggggctg																								novel		C3N-00549_TP	C3N-00549_NB	G	G																c.264G>A	p.=	p.A88A	ENST00000605587	2/3	222	135	87	199	199	0	strelka-varscan-mutect	C17orf50,missense_variant,p.Gly96Arg,ENST00000603305,;C17orf50,synonymous_variant,p.=,ENST00000605587,NM_145272.3;C17orf50,intron_variant,,ENST00000604830,;MMP28,intron_variant,,ENST00000615317,;MMP28,downstream_gene_variant,,ENST00000615136,NM_032950.3;MMP28,downstream_gene_variant,,ENST00000605424,NM_024302.4;MMP28,downstream_gene_variant,,ENST00000612292,;MMP28,intron_variant,,ENST00000619655,;TAF15,intron_variant,,ENST00000603067,;	A	ENST00000605587	Transcript	synonymous_variant	296/1018	264/525	88/174	A	gcG/gcA		1		1	C17orf50	HGNC	HGNC:29581	protein_coding	YES	CCDS42298.1	ENSP00000475146	Q8WW18		UPI00002016EC	NM_145272.3			2/3		hmmpanther:PTHR37878:SF1,hmmpanther:PTHR37878,Pfam_domain:PF15470																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	51	35764257	35764257	G	A	1	0	0	0	0	0	0	0	1	1881	1117	39	1		1	C17orf50	17	35764257	Silent	SNP	G	C3N-00549_TP	1	35764257	47493184	364	16554	358	2									
KRT17	0	.	GRCh38	chr17	41624137	41624137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtagtcacgggcgggccccgGggcctgcctctggtaccagt	4	7	16	14	3	2	0	1	0	1	0	2	0	2	0	5	5	2	2	5	5	2	2	rs747955715		C3N-00549_TP	C3N-00549_NB	G	G																c.373C>A	p.Pro125Thr	p.P125T	ENST00000311208	1/8	759	451	308	713	712	1	strelka-varscan-mutect	KRT17,missense_variant,p.Pro125Thr,ENST00000311208,NM_000422.2;KRT17,missense_variant,p.Pro42Thr,ENST00000540235,;KRT17,missense_variant,p.Pro110Thr,ENST00000577817,;KRT17,5_prime_UTR_variant,,ENST00000463128,;KRT17,upstream_gene_variant,,ENST00000590038,;KRT42P,downstream_gene_variant,,ENST00000438131,;KRT42P,downstream_gene_variant,,ENST00000398469,;KRT17,non_coding_transcript_exon_variant,,ENST00000493253,;KRT17,non_coding_transcript_exon_variant,,ENST00000491673,;KRT42P,downstream_gene_variant,,ENST00000587335,;KRT42P,downstream_gene_variant,,ENST00000458343,;	T	ENST00000311208	Transcript	missense_variant	441/1524	373/1299	125/432	P/T	Ccg/Acg	rs747955715	1		-1	KRT17	HGNC	HGNC:6427	protein_coding	YES	CCDS11402.1	ENSP00000308452	Q04695		UPI0000148FD6	NM_000422.2	deleterious(0.05)		1/8		hmmpanther:PTHR23239:SF180,hmmpanther:PTHR23239,Pfam_domain:PF00038,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		rs747955715	.												T	3	4	51	41624137	41624137	G	T	1	0	0	0	0	1	0	0	0	8336	1232	43	2		2	KRT17	17	41624137	Missense_Mutation	SNP	G	C3N-00549_TP	5859880	41624137	41633304	365	16555											
SKAP1	0	.	GRCh38	chr17	48187868	48187868	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattagcatagtagtagaaGagacctctgctgacaacaca	15	9	8	9	0	2	3	1	1	1	2	2	4	2	3	1	0	3	4	1	0	6	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.417C>A	p.=	p.L139L	ENST00000336915	6/13	151	89	62	139	139	0	strelka-varscan-mutect	SKAP1,synonymous_variant,p.=,ENST00000336915,NM_003726.3,NM_001075099.1;SKAP1,synonymous_variant,p.=,ENST00000584924,;SKAP1,upstream_gene_variant,,ENST00000579336,;RP11-456D7.1,intron_variant,,ENST00000582246,;SKAP1,synonymous_variant,p.=,ENST00000581400,;SKAP1,3_prime_UTR_variant,,ENST00000584709,;SKAP1,3_prime_UTR_variant,,ENST00000581419,;	T	ENST00000336915	Transcript	synonymous_variant	487/1534	417/1080	139/359	L	ctC/ctA		1		-1	SKAP1	HGNC	HGNC:15605	protein_coding	YES	CCDS32674.1	ENSP00000338171	Q86WV1		UPI0000200EFD	NM_003726.3,NM_001075099.1			6/13		PROSITE_profiles:PS50003,hmmpanther:PTHR15129:SF1,hmmpanther:PTHR15129,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	51	48187868	48187868	G	T	1	0	0	0	0	0	0	0	1	14617	929	33	2		2	SKAP1	17	48187868	Silent	SNP	G	C3N-00549_TP	6563731	48187868	35069573	366	16556											
ABCC3	0	.	GRCh38	chr17	50691107	50691107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actagggtcctggtcctggaCaaaggagtagtagctgaatt	11	10	13	7	0	0	1	0	1	0	0	2	3	2	3	2	4	1	3	2	4	5	4	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.4491C>A	p.Asp1497Glu	p.D1497E	ENST00000285238	31/31	272	144	128	181	181	0	strelka-varscan-mutect	ABCC3,missense_variant,p.Asp1497Glu,ENST00000285238,NM_003786.3;ANKRD40,downstream_gene_variant,,ENST00000285243,NM_052855.3;RP11-294J22.6,upstream_gene_variant,,ENST00000574246,;ABCC3,3_prime_UTR_variant,,ENST00000502426,;ABCC3,3_prime_UTR_variant,,ENST00000505699,;ABCC3,non_coding_transcript_exon_variant,,ENST00000503337,;ABCC3,non_coding_transcript_exon_variant,,ENST00000508929,;ABCC3,downstream_gene_variant,,ENST00000504586,;	A	ENST00000285238	Transcript	missense_variant	4571/5716	4491/4584	1497/1527	D/E	gaC/gaA		1		1	ABCC3	HGNC	HGNC:54	protein_coding	YES	CCDS32681.1	ENSP00000285238	O15438		UPI000004B145	NM_003786.3	tolerated(0.18)		31/31		Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF221,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00957																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	50691107	50691107	C	A	1	0	0	0	0	1	0	0	0	58	477	17	2		2	ABCC3	17	50691107	Missense_Mutation	SNP	C	C3N-00549_TP	2503239	50691107	32566334	367	16557											
PCTP	0	.	GRCh38	chr17	55774817	55774817	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtattacttcgataacccGggtggccaaattccgtcctg	9	12	9	11	3	0	0	0	0	0	0	3	1	2	0	4	2	2	1	4	2	4	5	rs79806530		C3N-00549_TP	C3N-00549_NB	G	G																c.537G>T	p.=	p.P179P	ENST00000268896	5/6	217	132	85	243	243	0	strelka-varscan-mutect	PCTP,synonymous_variant,p.=,ENST00000576183,;PCTP,synonymous_variant,p.=,ENST00000268896,NM_021213.3;PCTP,synonymous_variant,p.=,ENST00000325214,NM_001102402.2;PCTP,synonymous_variant,p.=,ENST00000573500,;PCTP,synonymous_variant,p.=,ENST00000572536,;PCTP,non_coding_transcript_exon_variant,,ENST00000576221,;PCTP,3_prime_UTR_variant,,ENST00000417982,;PCTP,non_coding_transcript_exon_variant,,ENST00000571489,;	T	ENST00000268896	Transcript	synonymous_variant	662/2044	537/645	179/214	P	ccG/ccT	rs79806530,COSM5321276	1		1	PCTP	HGNC	HGNC:8752	protein_coding	YES	CCDS11588.1	ENSP00000268896	Q9UKL6	Q549N3	UPI0000112490	NM_021213.3			5/6		Gene3D:3.30.530.20,Pfam_domain:PF01852,PROSITE_profiles:PS50848,hmmpanther:PTHR19308,hmmpanther:PTHR19308:SF15,SMART_domains:SM00234,Superfamily_domains:SSF55961											0,1						LOW	1	SNV	1		0,1	1										PASS		rs79806530	.												T	2	4	51	55774817	55774817	G	T	1	0	0	0	0	0	0	0	1	11695	1103	39	1		1	PCTP	17	55774817	Silent	SNP	G	C3N-00549_TP	5083710	55774817	27482624	368	16558											
TUBD1	0	.	GRCh38	chr17	59878285	59878285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagggcgtctgaagatCggtacaagtgagaaagtgtc	13	7	16	5	2	1	3	0	2	1	2	3	6	1	4	0	3	1	1	0	3	5	1	rs760435470		C3N-00549_TP	C3N-00549_NB	C	C																c.587G>T	p.Arg196Leu	p.R196L	ENST00000325752	5/9	254	160	94	235	234	1	strelka-varscan-mutect	TUBD1,missense_variant,p.Arg196Leu,ENST00000325752,NM_016261.3;TUBD1,missense_variant,p.Arg196Leu,ENST00000613721,NM_001193611.1;TUBD1,missense_variant,p.Arg196Leu,ENST00000340993,NM_001193609.1,NM_001193612.1;TUBD1,missense_variant,p.Arg196Leu,ENST00000394239,NM_001193610.1;TUBD1,missense_variant,p.Arg196Leu,ENST00000592426,;TUBD1,missense_variant,p.Arg196Leu,ENST00000376094,;TUBD1,5_prime_UTR_variant,,ENST00000539018,NM_001193613.1;TUBD1,intron_variant,,ENST00000346141,;TUBD1,downstream_gene_variant,,ENST00000590498,;TUBD1,downstream_gene_variant,,ENST00000591611,;TUBD1,3_prime_UTR_variant,,ENST00000591548,;TUBD1,non_coding_transcript_exon_variant,,ENST00000587476,;TUBD1,non_coding_transcript_exon_variant,,ENST00000588009,;TUBD1,intron_variant,,ENST00000593110,;	A	ENST00000325752	Transcript	missense_variant	875/2490	587/1362	196/453	R/L	cGa/cTa	rs760435470,COSM3196510	1		-1	TUBD1	HGNC	HGNC:16811	protein_coding	YES	CCDS11620.1	ENSP00000320797	Q9UJT1		UPI000013D7FA	NM_016261.3	tolerated(0.05)		5/9		hmmpanther:PTHR11588:SF4,hmmpanther:PTHR11588,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161,Prints_domain:PR01224											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs760435470	.												A	3	1	51	59878285	59878285	C	A	1	0	0	0	0	1	0	0	0	17272	884	31	1		1	TUBD1	17	59878285	Missense_Mutation	SNP	C	C3N-00549_TP	4103468	59878285	23379156	369	16559											
KCNH6	0	.	GRCh38	chr17	63542306	63542306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaagtccagtgcagacGtgcgggctctgacctactgc	8	7	13	13	2	1	2	0	1	1	1	2	2	2	2	2	2	4	3	2	2	2	1	rs201547916		C3N-00549_TP	C3N-00549_NB	G	G																c.2020G>T	p.Val674Leu	p.V674L	ENST00000583023	9/14	291	188	103	229	229	0	strelka-varscan-mutect	KCNH6,missense_variant,p.Val674Leu,ENST00000583023,NM_030779.3;KCNH6,missense_variant,p.Val674Leu,ENST00000314672,NM_001278919.1,NM_001278920.1;KCNH6,missense_variant,p.Val621Leu,ENST00000581784,NM_173092.2;KCNH6,missense_variant,p.Val621Leu,ENST00000456941,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	T	ENST00000583023	Transcript	missense_variant	2031/3821	2020/2985	674/994	V/L	Gtg/Ttg	rs201547916	1		1	KCNH6	HGNC	HGNC:18862	protein_coding	YES	CCDS11638.1	ENSP00000463533	Q9H252		UPI000012DCAB	NM_030779.3	deleterious(0.01)		9/14		Gene3D:2.60.120.10,Pfam_domain:PF00027,Prints_domain:PR01463,PROSITE_profiles:PS50042,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF468,SMART_domains:SM00100,Superfamily_domains:SSF51206																	MODERATE	1	SNV	1			1										PASS		rs201547916	.												T	3	4	51	63542306	63542306	G	T	1	0	0	0	0	1	0	0	0	7952	1145	40	1		1	KCNH6	17	63542306	Missense_Mutation	SNP	G	C3N-00549_TP	3664021	63542306	19715135	370	16560											
SCN4A	0	.	GRCh38	chr17	63941494	63941494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattgaagttctccaggatGatggcgatgtacatgttgac	11	12	11	7	1	1	3	0	3	1	0	2	5	1	4	1	2	1	3	1	2	2	4			C3N-00549_TP	C3N-00549_NB	G	G																c.4788C>T	p.=	p.I1596I	ENST00000435607	24/24	726	444	282	541	541	0	strelka-varscan-mutect	SCN4A,synonymous_variant,p.=,ENST00000435607,NM_000334.4;SCN4A,synonymous_variant,p.=,ENST00000578147,;	A	ENST00000435607	Transcript	synonymous_variant	4865/7805	4788/5511	1596/1836	I	atC/atT	COSM4496590	1		-1	SCN4A	HGNC	HGNC:10591	protein_coding	YES	CCDS45761.1	ENSP00000396320	P35499		UPI0000201254	NM_000334.4			24/24		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF223,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00170											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	51	63941494	63941494	G	A	1	0	0	0	0	0	0	0	1	14189	1280	45	3		3	SCN4A	17	63941494	Silent	SNP	G	C3N-00549_TP	399188	63941494	19315947	371	16561											
CACNG1	0	.	GRCh38	chr17	67056084	67056084	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaggtcatgcggcagtCggtgaagcgcatgattgaca	9	8	17	7	3	1	3	1	3	0	0	2	4	1	4	0	5	2	2	0	5	1	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.482C>A	p.Ser161Ter	p.S161*	ENST00000226021	4/4	247	115	132	217	217	0	strelka-varscan-mutect	CACNG1,stop_gained,p.Ser161Ter,ENST00000226021,NM_000727.3;	A	ENST00000226021	Transcript	stop_gained	553/1266	482/669	161/222	S/*	tCg/tAg		1		1	CACNG1	HGNC	HGNC:1405	protein_coding	YES	CCDS11668.1	ENSP00000226021	Q06432		UPI00001272A9	NM_000727.3			4/4		Pfam_domain:PF13903,Prints_domain:PR01792,hmmpanther:PTHR15025,hmmpanther:PTHR15025:SF1																	HIGH	1	SNV	1			1										PASS		rs1324628915	.												A	4	1	51	67056084	67056084	C	A	1	0	0	0	0	0	1	0	0	2244	893	31	1		1	CACNG1	17	67056084	Nonsense_Mutation	SNP	C	C3N-00549_TP	3114590	67056084	16201357	372	16562											
MGAT5B	0	.	GRCh38	chr17	76925071	76925071	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagatgaagcggcaCatgggactctccttcaagaa	12	7	11	11	1	2	3	1	1	1	2	3	4	2	4	1	2	3	3	1	2	3	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1164C>T	p.=	p.H388H	ENST00000428789	8/16	207	112	95	177	177	0	strelka-varscan-mutect	MGAT5B,synonymous_variant,p.=,ENST00000569840,NM_001199172.1;MGAT5B,synonymous_variant,p.=,ENST00000301618,NM_144677.2;MGAT5B,synonymous_variant,p.=,ENST00000428789,NM_198955.1;MGAT5B,downstream_gene_variant,,ENST00000563627,;MGAT5B,synonymous_variant,p.=,ENST00000565043,;	T	ENST00000428789	Transcript	synonymous_variant	1267/4053	1164/2406	388/801	H	caC/caT		1		1	MGAT5B	HGNC	HGNC:24140	protein_coding	YES	CCDS45788.1	ENSP00000391227	Q3V5L5		UPI0000231C88	NM_198955.1			8/16		Pfam_domain:PF15024,hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF6																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	51	76925071	76925071	C	T	1	0	0	0	0	0	0	0	1	9510	477	17	3		3	MGAT5B	17	76925071	Silent	SNP	C	C3N-00549_TP	9868987	76925071	6332370	373	16563											
CBX2	0	.	GRCh38	chr17	79779369	79779369	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctttgcagacataacAgctgggagccggaggagaac	11	7	13	10	1	1	2	0	0	1	2	1	5	1	4	1	3	6	3	1	3	2	2	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.124A>G	p.Ser42Gly	p.S42G	ENST00000310942	3/5	598	391	207	480	480	0	strelka-varscan-mutect	CBX2,missense_variant,p.Ser42Gly,ENST00000310942,NM_005189.2;CBX2,missense_variant,p.Ser42Gly,ENST00000269399,NM_032647.3;CBX2,non_coding_transcript_exon_variant,,ENST00000571484,;	G	ENST00000310942	Transcript	missense_variant	228/4644	124/1599	42/532	S/G	Agc/Ggc		1		1	CBX2	HGNC	HGNC:1552	protein_coding	YES	CCDS32757.1	ENSP00000308750	Q14781		UPI000004C4E1	NM_005189.2	deleterious(0.01)		3/5		PROSITE_profiles:PS50013,hmmpanther:PTHR22812,hmmpanther:PTHR22812:SF98,PROSITE_patterns:PS00598,Pfam_domain:PF00385,Gene3D:2.40.50.40,SMART_domains:SM00298,Superfamily_domains:SSF54160																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	51	79779369	79779369	A	G	1	0	0	0	0	1	0	0	0	2418	188	7	5		5	CBX2	17	79779369	Missense_Mutation	SNP	A	C3N-00549_TP	2854298	79779369	3478072	374	16564											
BAHCC1	0	.	GRCh38	chr17	81443178	81443178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcctacctggacccctttgGcagtggcctgcagcaggcgg	5	7	14	15	2	0	0	0	0	0	0	0	1	0	1	5	5	3	3	5	5	1	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1829G>T	p.Gly610Val	p.G610V	ENST00000584436	5/29	161	90	71	99	99	0	strelka-varscan-mutect	BAHCC1,missense_variant,p.Gly610Val,ENST00000584436,NM_001291324.1;BAHCC1,missense_variant,p.Gly610Val,ENST00000307745,;BAHCC1,upstream_gene_variant,,ENST00000585224,;	T	ENST00000584436	Transcript	missense_variant	2196/10801	1829/7920	610/2639	G/V	gGc/gTc		1		1	BAHCC1	HGNC	HGNC:29279	protein_coding	YES	CCDS74173.1	ENSP00000462154		A0A075B747	UPI0003EAE637	NM_001291324.1	deleterious(0)		5/29		hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	51	81443178	81443178	G	T	1	0	0	0	0	1	0	0	0	1451	1203	42	2		2	BAHCC1	17	81443178	Missense_Mutation	SNP	G	C3N-00549_TP	1663809	81443178	1814263	375	16565											
CEP192	0	.	GRCh38	chr18	13099526	13099526	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccttatccacaaaacAgtcaatgttcccgtggagtg	10	12	7	12	1	1	0	1	0	0	0	5	1	5	1	4	1	1	1	4	1	4	3	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.6608A>T	p.Gln2203Leu	p.Q2203L	ENST00000506447	37/45	67	21	46	122	122	0	strelka-varscan-mutect	CEP192,missense_variant,p.Gln2203Leu,ENST00000506447,NM_032142.3;CEP192,missense_variant,p.Gln1728Leu,ENST00000325971,;CEP192,missense_variant,p.Gln1742Leu,ENST00000511820,;CEP192,3_prime_UTR_variant,,ENST00000430049,;CEP192,non_coding_transcript_exon_variant,,ENST00000540847,;CEP192,upstream_gene_variant,,ENST00000508539,;CEP192,missense_variant,p.Gln1803Leu,ENST00000510237,;CEP192,missense_variant,p.Gln751Leu,ENST00000589993,;CEP192,3_prime_UTR_variant,,ENST00000513432,;CEP192,downstream_gene_variant,,ENST00000508150,;	T	ENST00000506447	Transcript	missense_variant	6688/7960	6608/7614	2203/2537	Q/L	cAg/cTg		1		1	CEP192	HGNC	HGNC:25515	protein_coding	YES	CCDS32792.2	ENSP00000427550	Q8TEP8		UPI0001B09235	NM_032142.3	tolerated(0.19)		37/45		hmmpanther:PTHR16029,hmmpanther:PTHR16029:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	51	13099526	13099526	A	T	1	0	0	0	0	1	0	0	0	2967	188	7	4		4	CEP192	18	13099526	Missense_Mutation	SNP	A	C3N-00549_TP		13099526	67273759	376	16566											
DSC1	0	.	GRCh38	chr18	31156092	31156092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgagttctccatcaatgaaGctggaataggagcccatcgt	12	9	10	10	2	2	1	1	1	1	0	4	4	2	3	2	2	2	2	2	2	4	2	rs773770610		C3N-00549_TP	C3N-00549_NB	G	G																c.422C>A	p.Ala141Asp	p.A141D	ENST00000257198	4/16	124	41	83	238	237	1	strelka-varscan-mutect	DSC1,missense_variant,p.Ala141Asp,ENST00000257197,NM_004948.3;DSC1,missense_variant,p.Ala141Asp,ENST00000257198,NM_024421.2;DSCAS,intron_variant,,ENST00000581836,;	T	ENST00000257198	Transcript	missense_variant	684/4225	422/2685	141/894	A/D	gCt/gAt	rs773770610,COSM1303658,COSM1303659	1		-1	DSC1	HGNC	HGNC:3035	protein_coding	YES	CCDS11894.1	ENSP00000257198	Q08554		UPI000006DF10	NM_024421.2	deleterious(0)		4/16		PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF8,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs773770610	.												T	3	4	51	31156092	31156092	G	T	1	0	0	0	0	1	0	0	0	4586	971	34	2		2	DSC1	18	31156092	Missense_Mutation	SNP	G	C3N-00549_TP	18056566	31156092	49217193	377	16567											
LOXHD1	0	.	GRCh38	chr18	46563077	46563077	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatacctggaatgtgtcCttggacgcccgttcaaaaac	11	9	8	13	2	1	0	1	0	0	0	2	2	2	2	4	2	2	1	4	2	4	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.2586G>C	p.Lys862Asn	p.K862N	ENST00000536736	18/40	68	18	50	74	74	0	strelka-varscan-mutect	LOXHD1,missense_variant,p.Lys862Asn,ENST00000536736,NM_144612.6;LOXHD1,missense_variant,p.Lys862Asn,ENST00000441551,;LOXHD1,upstream_gene_variant,,ENST00000300591,NM_001145472.2;LOXHD1,upstream_gene_variant,,ENST00000582408,;LOXHD1,upstream_gene_variant,,ENST00000419859,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;	G	ENST00000536736	Transcript	missense_variant	2586/6848	2586/6636	862/2211	K/N	aaG/aaC		1		-1	LOXHD1	HGNC	HGNC:26521	protein_coding			ENSP00000444586		F5GZB4	UPI0001A595CE	NM_144612.6	deleterious(0.04)		18/40		Gene3D:2.60.60.20,Pfam_domain:PF01477,PROSITE_profiles:PS50095,Superfamily_domains:SSF49723																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	51	46563077	46563077	C	G	1	0	0	0	0	1	0	0	0	8801	680	24	4		4	LOXHD1	18	46563077	Missense_Mutation	SNP	C	C3N-00549_TP	15406985	46563077	33810208	378	16568											
NEDD4L	0	.	GRCh38	chr18	58367853	58367853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtctggccgtatttcatgGgaagctcttagatggtaagt	8	14	13	6	1	3	1	1	0	2	1	3	2	3	2	1	4	1	3	1	4	4	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.2171G>T	p.Gly724Val	p.G724V	ENST00000400345	22/31	118	30	88	140	140	0	strelka-varscan-mutect	NEDD4L,missense_variant,p.Gly603Val,ENST00000456986,NM_001144964.1,NM_001144965.1;NEDD4L,missense_variant,p.Gly704Val,ENST00000382850,NM_015277.5;NEDD4L,missense_variant,p.Gly583Val,ENST00000456173,NM_001144970.2;NEDD4L,missense_variant,p.Gly1003Val,ENST00000635997,;NEDD4L,missense_variant,p.Gly724Val,ENST00000400345,NM_001144967.2;NEDD4L,missense_variant,p.Gly716Val,ENST00000357895,NM_001144968.1;NEDD4L,missense_variant,p.Gly583Val,ENST00000435432,NM_001144971.1;NEDD4L,missense_variant,p.Gly696Val,ENST00000586263,NM_001144969.1;NEDD4L,missense_variant,p.Gly603Val,ENST00000431212,NM_001144966.2;NEDD4L,missense_variant,p.Gly660Val,ENST00000356462,NM_001243960.1;NEDD4L,missense_variant,p.Gly620Val,ENST00000256830,;NEDD4L,missense_variant,p.Gly388Val,ENST00000587881,;NEDD4L,intron_variant,,ENST00000589054,;RP11-845C23.2,upstream_gene_variant,,ENST00000587933,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000587246,;NEDD4L,downstream_gene_variant,,ENST00000585970,;NEDD4L,downstream_gene_variant,,ENST00000590638,;	T	ENST00000400345	Transcript	missense_variant	2454/3647	2171/2928	724/975	G/V	gGg/gTg		1		1	NEDD4L	HGNC	HGNC:7728	protein_coding	YES	CCDS45872.1	ENSP00000383199	Q96PU5		UPI000058E3AE	NM_001144967.2	deleterious(0)		22/31		Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF310,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	58367853	58367853	G	T	1	0	0	0	0	1	0	0	0	10339	1232	43	2		2	NEDD4L	18	58367853	Missense_Mutation	SNP	G	C3N-00549_TP	11804776	58367853	22005432	379	16569											
SERPINB2	0	.	GRCh38	chr18	63901792	63901792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagatggggataccaggatGgtcctggtgaatgctgtcta	9	11	15	6	0	1	2	0	1	1	1	2	4	2	4	2	5	2	2	2	5	4	3	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.588G>T	p.Met196Ile	p.M196I	ENST00000457692	7/9	70	20	50	116	116	0	strelka-mutect	SERPINB2,missense_variant,p.Met196Ile,ENST00000457692,NM_001143818.1;SERPINB2,missense_variant,p.Met196Ile,ENST00000299502,NM_002575.2;SERPINB10,missense_variant,p.Met73Ile,ENST00000397996,;SERPINB10,missense_variant,p.Met73Ile,ENST00000418725,;SERPINB2,downstream_gene_variant,,ENST00000413956,;SERPINB2,downstream_gene_variant,,ENST00000443281,;SERPINB2,downstream_gene_variant,,ENST00000404622,;SERPINB2,non_coding_transcript_exon_variant,,ENST00000482254,;	T	ENST00000457692	Transcript	missense_variant	921/2155	588/1248	196/415	M/I	atG/atT		1		1	SERPINB2	HGNC	HGNC:8584	protein_coding	YES	CCDS11989.1	ENSP00000401645	P05120		UPI000002BB06	NM_001143818.1	deleterious(0.01)		7/9		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF61,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	51	63901792	63901792	G	T	1	0	0	0	0	1	0	0	0	14377	1348	47	2		2	SERPINB2	18	63901792	Missense_Mutation	SNP	G	C3N-00549_TP	5533939	63901792	16471493	380	16570											
CDH19	0	.	GRCh38	chr18	66504985	66504985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgtaggtctggagggaatCaaaaggaggggcacacggat	13	5	17	6	2	2	0	1	0	1	0	2	4	2	4	0	7	1	2	0	7	4	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.2146G>A	p.Asp716Asn	p.D716N	ENST00000262150	12/12	158	49	109	254	254	0	strelka-varscan-mutect	CDH19,missense_variant,p.Asp716Asn,ENST00000262150,NM_021153.3;CDH19,downstream_gene_variant,,ENST00000540086,NM_001271028.1;CDH19,3_prime_UTR_variant,,ENST00000579658,;	T	ENST00000262150	Transcript	missense_variant	2439/6341	2146/2319	716/772	D/N	Gat/Aat		1		-1	CDH19	HGNC	HGNC:1758	protein_coding	YES	CCDS11994.1	ENSP00000262150	Q9H159		UPI0000048ECF	NM_021153.3	deleterious(0)		12/12		Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF323																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	66504985	66504985	C	T	1	0	0	0	0	1	0	0	0	2807	826	29	3		3	CDH19	18	66504985	Missense_Mutation	SNP	C	C3N-00549_TP	2603193	66504985	13868300	381	16571											
STK11	0	.	GRCh38	chr19	1219382	1219382	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatgctggacagcgtgccgGagaagcgtttcccagtgtgc	9	8	14	10	3	0	1	0	0	0	1	1	3	1	2	2	2	5	2	2	2	2	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.433G>T	p.Glu145Ter	p.E145*	ENST00000326873	3/10	188	46	142	207	207	0	strelka-varscan-mutect	STK11,stop_gained,p.Glu145Ter,ENST00000586243,;STK11,stop_gained,p.Glu145Ter,ENST00000326873,NM_000455.4;STK11,stop_gained,p.Glu21Ter,ENST00000585748,;STK11,intron_variant,,ENST00000585851,;STK11,upstream_gene_variant,,ENST00000585465,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;STK11,upstream_gene_variant,,ENST00000591133,;STK11,downstream_gene_variant,,ENST00000593219,;	T	ENST00000326873	Transcript	stop_gained	883/2611	433/1302	145/433	E/*	Gag/Tag		1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4			3/10		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		rs1241537285	.												T	4	4	51	1219382	1219382	G	T	1	0	0	0	0	0	1	0	0	15664	1175	41	2		2	STK11	19	1219382	Nonsense_Mutation	SNP	G	C3N-00549_TP		1219382	57398234	382	16572											
ADAMTSL5	0	.	GRCh38	chr19	1506835	1506835	+	Missense_Mutation	SNP	C	C	A																															aggctgcctcaggggccagcCcagggcctgcacacgagcct																								novel		C3N-00549_TP	C3N-00549_NB	C	C																c.946G>T	p.Gly316Cys	p.G316C	ENST00000330475	10/12	26	6	20	136	136	0	strelka-varscan-mutect	ADAMTSL5,missense_variant,p.Gly316Cys,ENST00000330475,NM_213604.2;ADAMTSL5,missense_variant,p.Gly85Cys,ENST00000395467,;ADAMTSL5,missense_variant,p.Gly104Cys,ENST00000590090,;ADAMTSL5,downstream_gene_variant,,ENST00000586272,;ADAMTSL5,downstream_gene_variant,,ENST00000585804,;ADAMTSL5,downstream_gene_variant,,ENST00000590562,;CTB-25B13.9,upstream_gene_variant,,ENST00000590252,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000590440,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000585700,;ADAMTSL5,downstream_gene_variant,,ENST00000589839,;ADAMTSL5,upstream_gene_variant,,ENST00000591077,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000590682,;	A	ENST00000330475	Transcript	missense_variant	1390/2857	946/1416	316/471	G/C	Ggc/Tgc		1		-1	ADAMTSL5	HGNC	HGNC:27912	protein_coding	YES	CCDS12071.1	ENSP00000327608		X6R4H8	UPI00001D8216	NM_213604.2	deleterious(0)		10/12																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	51	1506835	1506835	C	A	1	0	0	0	0	1	0	0	0	322	623	22	2		2	ADAMTSL5	19	1506835	Missense_Mutation	SNP	C	C3N-00549_TP	287453	1506835	57110781	383	16573	359	2									
ADAMTSL5	0	.	GRCh38	chr19	1506836	1506836	+	Silent	SNP	C	C	G																															ggctgcctcaggggccagccCagggcctgcacacgagcctg																								novel		C3N-00549_TP	C3N-00549_NB	C	C																c.945G>C	p.=	p.L315L	ENST00000330475	10/12	26	6	20	139	139	0	strelka-varscan-mutect	ADAMTSL5,synonymous_variant,p.=,ENST00000330475,NM_213604.2;ADAMTSL5,synonymous_variant,p.=,ENST00000395467,;ADAMTSL5,synonymous_variant,p.=,ENST00000590090,;ADAMTSL5,downstream_gene_variant,,ENST00000586272,;ADAMTSL5,downstream_gene_variant,,ENST00000585804,;ADAMTSL5,downstream_gene_variant,,ENST00000590562,;CTB-25B13.9,upstream_gene_variant,,ENST00000590252,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000590440,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000585700,;ADAMTSL5,downstream_gene_variant,,ENST00000589839,;ADAMTSL5,upstream_gene_variant,,ENST00000591077,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000590682,;	G	ENST00000330475	Transcript	synonymous_variant	1389/2857	945/1416	315/471	L	ctG/ctC		1		-1	ADAMTSL5	HGNC	HGNC:27912	protein_coding	YES	CCDS12071.1	ENSP00000327608		X6R4H8	UPI00001D8216	NM_213604.2			10/12																			LOW	1	SNV	2			1										PASS		rs1244065197	.												G	2	3	51	1506836	1506836	C	G	1	0	0	0	0	0	0	0	1	322	581	21	4		4	ADAMTSL5	19	1506836	Silent	SNP	C	C3N-00549_TP	1	1506836	57110780	384	16574	359	2									
MUC16	0	.	GRCh38	chr19	8949744	8949744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgagtggatctcctgggagGtgctggtctcccttggtgtg	3	13	16	9	0	2	1	0	1	2	0	4	3	2	3	2	5	1	1	2	5	0	1	rs200826565		C3N-00549_TP	C3N-00549_NB	G	G																c.27026C>A	p.Thr9009Asn	p.T9009N	ENST00000397910	3/84	102	33	69	161	161	0	strelka-varscan-mutect	MUC16,missense_variant,p.Thr9009Asn,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	27230/43816	27026/43524	9009/14507	T/N	aCc/aAc	rs200826565,COSM4620390,COSM4620391	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84													0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs200826565	.												T	3	4	51	8949744	8949744	G	T	1	0	0	0	0	1	0	0	0	9972	1261	44	2		2	MUC16	19	8949744	Missense_Mutation	SNP	G	C3N-00549_TP	7442908	8949744	49667872	385	16575											
S1PR5	0	.	GRCh38	chr19	10514069	10514069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggcgcaggagcgcgtGgcgcaggtcgcggttggtga	6	5	20	10	6	0	1	0	1	0	0	1	3	0	2	1	6	1	3	1	6	0	1	rs866372730		C3N-00549_TP	C3N-00549_NB	G	G																c.943C>A	p.His315Asn	p.H315N	ENST00000333430	2/2	138	35	103	181	180	1	strelka-varscan-mutect	S1PR5,missense_variant,p.His315Asn,ENST00000333430,NM_030760.4;S1PR5,missense_variant,p.His315Asn,ENST00000439028,NM_001166215.1;S1PR5,missense_variant,p.His171Asn,ENST00000617721,;S1PR5,downstream_gene_variant,,ENST00000590601,;	T	ENST00000333430	Transcript	missense_variant	1014/2341	943/1197	315/398	H/N	Cac/Aac	rs866372730	1		-1	S1PR5	HGNC	HGNC:14299	protein_coding	YES	CCDS12240.1	ENSP00000328472	Q9H228		UPI000003BC79	NM_030760.4	deleterious(0.03)		2/2		hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF20,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01523																	MODERATE	1	SNV	1			1										PASS		rs866372730	.												T	3	4	51	10514069	10514069	G	T	1	0	0	0	0	1	0	0	0	14056	1348	47	2		2	S1PR5	19	10514069	Missense_Mutation	SNP	G	C3N-00549_TP	1564325	10514069	48103547	386	16576											
SIN3B	0	.	GRCh38	chr19	16841937	16841937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaccacccagaaatctacaGgtcattcctggagatcctgc	12	8	8	13	0	2	3	1	0	1	3	4	4	4	3	4	2	2	0	4	2	2	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.551G>T	p.Arg184Met	p.R184M	ENST00000379803	4/20	177	53	124	230	230	0	strelka-varscan-mutect	SIN3B,missense_variant,p.Arg184Met,ENST00000379803,NM_015260.3;SIN3B,missense_variant,p.Arg184Met,ENST00000248054,NM_001297595.1;SIN3B,missense_variant,p.Arg184Met,ENST00000596802,;SIN3B,upstream_gene_variant,,ENST00000596638,;CTD-2538G9.5,upstream_gene_variant,,ENST00000600987,;	T	ENST00000379803	Transcript	missense_variant	565/5129	551/3489	184/1162	R/M	aGg/aTg		1		1	SIN3B	HGNC	HGNC:19354	protein_coding	YES	CCDS32946.1	ENSP00000369131	O75182		UPI0000425EFA	NM_015260.3	deleterious(0)		4/20		PROSITE_profiles:PS51477,hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF1,Gene3D:1g1eB00,Pfam_domain:PF02671,Superfamily_domains:SSF47762																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	16841937	16841937	G	T	1	0	0	0	0	1	0	0	0	14590	1000	35	2		2	SIN3B	19	16841937	Missense_Mutation	SNP	G	C3N-00549_TP	6327868	16841937	41775679	387	16577											
ZNF536	0	.	GRCh38	chr19	30444476	30444476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctacaagtgcacgttgtGcgacttcgcggcttcgcagg	6	9	13	13	5	0	0	0	0	0	0	2	1	0	0	1	2	3	4	1	2	2	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.914G>A	p.Cys305Tyr	p.C305Y	ENST00000355537	2/5	114	79	35	119	119	0	strelka-varscan-mutect	ZNF536,missense_variant,p.Cys305Tyr,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.Cys305Tyr,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;	A	ENST00000355537	Transcript	missense_variant	1061/4945	914/3903	305/1300	C/Y	tGc/tAc		1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	deleterious(0)		2/5		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	30444476	30444476	G	A	1	0	0	0	0	1	0	0	0	18547	1319	46	3		3	ZNF536	19	30444476	Missense_Mutation	SNP	G	C3N-00549_TP	13602539	30444476	28173140	388	16578											
SUPT5H	0	.	GRCh38	chr19	39457725	39457725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgggaggatggagcagagGacattctagagaaaggtgtg	13	7	18	3	0	1	2	0	0	1	2	1	7	1	6	0	5	1	1	0	5	2	2	rs758081369		C3N-00549_TP	C3N-00549_NB	G	G																c.292G>T	p.Asp98Tyr	p.D98Y	ENST00000599117	5/31	204	99	105	160	160	0	strelka-varscan-mutect	SUPT5H,missense_variant,p.Asp98Tyr,ENST00000599117,NM_001319990.1;SUPT5H,missense_variant,p.Asp98Tyr,ENST00000359191,NM_001319991.1;SUPT5H,missense_variant,p.Asp98Tyr,ENST00000598725,NM_001319990.1,NM_003169.3;SUPT5H,missense_variant,p.Asp98Tyr,ENST00000432763,NM_001111020.2,NM_001130824.1;SUPT5H,missense_variant,p.Asp98Tyr,ENST00000402194,NM_001130825.1;SUPT5H,missense_variant,p.Asp9Tyr,ENST00000593727,;SUPT5H,missense_variant,p.Asp98Tyr,ENST00000601515,;SUPT5H,missense_variant,p.Asp98Tyr,ENST00000594729,;SUPT5H,downstream_gene_variant,,ENST00000594990,;SUPT5H,non_coding_transcript_exon_variant,,ENST00000595368,;SUPT5H,non_coding_transcript_exon_variant,,ENST00000598459,;SUPT5H,non_coding_transcript_exon_variant,,ENST00000601978,;SUPT5H,upstream_gene_variant,,ENST00000599907,;SUPT5H,upstream_gene_variant,,ENST00000598786,;	T	ENST00000599117	Transcript	missense_variant	659/3902	292/3264	98/1087	D/Y	Gac/Tac	rs758081369	1		1	SUPT5H	HGNC	HGNC:11469	protein_coding	YES	CCDS12536.1	ENSP00000470252	O00267		UPI000006D81A	NM_001319990.1	deleterious(0)		5/31		hmmpanther:PTHR11125,PIRSF_domain:PIRSF036945,Pfam_domain:PF11942																	MODERATE	1	SNV	5			1										PASS		rs758081369	.												T	3	4	51	39457725	39457725	G	T	1	0	0	0	0	1	0	0	0	15786	1174	41	2		2	SUPT5H	19	39457725	Missense_Mutation	SNP	G	C3N-00549_TP	9013249	39457725	19159891	389	16579											
SHKBP1	0	.	GRCh38	chr19	40580882	40580882	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatggtggcagcagccaccGgcagcgagatcctgctatgg	9	6	15	11	2	0	2	0	0	0	2	1	3	1	2	3	4	4	4	3	4	1	1	rs753952010		C3N-00549_TP	C3N-00549_NB	G	G																c.790G>T	p.Gly264Cys	p.G264C	ENST00000291842	9/18	65	29	36	58	58	0	strelka-varscan-mutect	SHKBP1,missense_variant,p.Gly264Cys,ENST00000291842,NM_138392.3;SHKBP1,missense_variant,p.Gly264Cys,ENST00000600733,;SHKBP1,missense_variant,p.Gly259Cys,ENST00000600718,;SPTBN4,downstream_gene_variant,,ENST00000338932,;SPTBN4,downstream_gene_variant,,ENST00000352632,;SPTBN4,downstream_gene_variant,,ENST00000392025,;SHKBP1,upstream_gene_variant,,ENST00000600320,;SHKBP1,upstream_gene_variant,,ENST00000602011,;SHKBP1,upstream_gene_variant,,ENST00000593764,;SHKBP1,downstream_gene_variant,,ENST00000595631,;SHKBP1,upstream_gene_variant,,ENST00000597649,;SHKBP1,downstream_gene_variant,,ENST00000600552,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000594973,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000598201,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000598907,;SPTBN4,downstream_gene_variant,,ENST00000596411,;SHKBP1,downstream_gene_variant,,ENST00000595945,;SHKBP1,downstream_gene_variant,,ENST00000599575,;SHKBP1,downstream_gene_variant,,ENST00000595803,;SHKBP1,downstream_gene_variant,,ENST00000598558,;SHKBP1,downstream_gene_variant,,ENST00000595523,;SHKBP1,downstream_gene_variant,,ENST00000599716,;SHKBP1,upstream_gene_variant,,ENST00000600791,;SHKBP1,downstream_gene_variant,,ENST00000597325,;SHKBP1,upstream_gene_variant,,ENST00000595874,;	T	ENST00000291842	Transcript	missense_variant	839/2363	790/2124	264/707	G/C	Ggc/Tgc	rs753952010,COSM712855	1		1	SHKBP1	HGNC	HGNC:19214	protein_coding	YES	CCDS12560.1	ENSP00000291842	Q8TBC3		UPI0000036171	NM_138392.3	tolerated(0.22)		9/18		Gene3D:2.130.10.10,hmmpanther:PTHR15859,hmmpanther:PTHR15859:SF5,Superfamily_domains:SSF50978											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs753952010	.												T	3	4	51	40580882	40580882	G	T	1	0	0	0	0	1	0	0	0	14547	1116	39	1		1	SHKBP1	19	40580882	Missense_Mutation	SNP	G	C3N-00549_TP	1123157	40580882	18036734	390	16580											
CLPTM1	0	.	GRCh38	chr19	44986479	44986479	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaggactatgggcctgtgGaggtgatctcccattggcac	7	10	14	10	0	1	2	0	2	1	0	2	4	1	4	2	5	0	1	2	5	1	2			C3N-00549_TP	C3N-00549_NB	G	G																c.697G>T	p.Glu233Ter	p.E233*	ENST00000337392	7/14	154	69	85	177	177	0	strelka-varscan-mutect	CLPTM1,stop_gained,p.Glu219Ter,ENST00000541297,NM_001282175.1;CLPTM1,stop_gained,p.Glu233Ter,ENST00000337392,NM_001294.3;CLPTM1,stop_gained,p.Glu131Ter,ENST00000546079,NM_001282176.1;CLPTM1,downstream_gene_variant,,ENST00000591304,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000589158,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000588855,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000587537,;CLPTM1,upstream_gene_variant,,ENST00000588274,;CLPTM1,upstream_gene_variant,,ENST00000586975,;CLPTM1,upstream_gene_variant,,ENST00000589347,;	T	ENST00000337392	Transcript	stop_gained	847/2604	697/2010	233/669	E/*	Gag/Tag	COSM712378,COSM712379	1		1	CLPTM1	HGNC	HGNC:2087	protein_coding	YES	CCDS12651.1	ENSP00000336994	O96005	A0A0S2Z3H2	UPI0000072CBA	NM_001294.3			7/14		Pfam_domain:PF05602,hmmpanther:PTHR21347,hmmpanther:PTHR21347:SF0											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												T	4	4	51	44986479	44986479	G	T	1	0	0	0	0	0	1	0	0	3326	1175	41	2		2	CLPTM1	19	44986479	Nonsense_Mutation	SNP	G	C3N-00549_TP	4405597	44986479	13631137	391	16581											
CCDC61	0	.	GRCh38	chr19	46003099	46003099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgatggtttctgggcaGgtgctggagctggaggtgga	5	10	21	5	1	1	1	0	1	1	0	1	4	1	4	0	8	2	4	0	8	0	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.81G>T	p.Gln27His	p.Q27H	ENST00000595358	2/14	143	64	79	196	195	1	strelka-varscan-mutect	CCDC61,missense_variant,p.Gln27His,ENST00000595358,NM_001267723.1;CCDC61,missense_variant,p.Gln27His,ENST00000536603,;CCDC61,missense_variant,p.Gln27His,ENST00000594087,;CCDC61,missense_variant,p.Gln27His,ENST00000594672,;CCDC61,missense_variant,p.Gln27His,ENST00000596687,;CCDC61,non_coding_transcript_exon_variant,,ENST00000599044,;CCDC61,non_coding_transcript_exon_variant,,ENST00000596161,;	T	ENST00000595358	Transcript	missense_variant	130/1817	81/1539	27/512	Q/H	caG/caT		1		1	CCDC61	HGNC	HGNC:33629	protein_coding	YES	CCDS46120.2	ENSP00000471454	Q9Y6R9		UPI000040C0FF	NM_001267723.1	tolerated(0.17)		2/14		hmmpanther:PTHR22691,hmmpanther:PTHR22691:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	51	46003099	46003099	G	T	1	0	0	0	0	1	0	0	0	2534	991	35	2		2	CCDC61	19	46003099	Missense_Mutation	SNP	G	C3N-00549_TP	1016620	46003099	12614517	392	16582											
ZC3H4	0	.	GRCh38	chr19	47086383	47086383	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggccagaggaaaccttaCgtccatctcttcctcgtaga	10	9	9	13	2	1	2	0	0	1	2	5	3	3	3	4	2	2	1	4	2	3	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.870+1G>T		p.X290_splice	ENST00000253048		115	89	26	254	253	1	strelka-varscan-mutect	ZC3H4,splice_donor_variant,,ENST00000253048,NM_015168.1;ZC3H4,upstream_gene_variant,,ENST00000601973,;ZC3H4,intron_variant,,ENST00000594019,;ZC3H4,downstream_gene_variant,,ENST00000597069,;	A	ENST00000253048	Transcript	splice_donor_variant	-/6119	870/3912	290/1303				1		-1	ZC3H4	HGNC	HGNC:17808	protein_coding	YES	CCDS42582.1	ENSP00000253048	Q9UPT8		UPI00001C2000	NM_015168.1				6/14																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	51	47086383	47086383	C	A	1	0	0	0	0	0	0	1	0	18145	550	19	1		1	ZC3H4	19	47086383	Splice_Site	SNP	C	C3N-00549_TP	1083284	47086383	11531233	393	16583											
SULT2B1	0	.	GRCh38	chr19	48591731	48591731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagggacttcctcaaaggCgaaggtggggacagggtaaa	12	6	16	7	1	1	1	1	1	0	0	2	4	2	3	1	6	0	1	1	6	4	2	rs746998782		C3N-00549_TP	C3N-00549_NB	C	C																c.546C>T	p.=	p.G182G	ENST00000201586	4/7	69	53	16	75	75	0	strelka-varscan-mutect	SULT2B1,synonymous_variant,p.=,ENST00000323090,NM_004605.2;SULT2B1,synonymous_variant,p.=,ENST00000201586,NM_177973.1;SULT2B1,non_coding_transcript_exon_variant,,ENST00000594274,;SULT2B1,upstream_gene_variant,,ENST00000597923,;	T	ENST00000201586	Transcript	synonymous_variant	724/1295	546/1098	182/365	G	ggC/ggT	rs746998782,COSM999018,COSM999019	1		1	SULT2B1	HGNC	HGNC:11459	protein_coding	YES	CCDS12723.1	ENSP00000201586	O00204		UPI0000073F98	NM_177973.1			4/7		hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF9,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs746998782	.												T	2	4	51	48591731	48591731	C	T	1	0	0	0	0	0	0	0	1	15768	782	27	1		1	SULT2B1	19	48591731	Silent	SNP	C	C3N-00549_TP	1505348	48591731	10025885	394	16584											
TRPM4	0	.	GRCh38	chr19	49200329	49200329	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtttgtaccacctgggccGcactgtcctctgcatcgact	5	11	11	14	2	1	0	0	0	1	0	3	1	2	0	4	2	2	4	4	2	1	2	rs866510018		C3N-00549_TP	C3N-00549_NB	G	G																c.2675G>C	p.Arg892Pro	p.R892P	ENST00000252826	18/25	347	281	66	329	329	0	strelka-varscan-mutect	TRPM4,missense_variant,p.Arg892Pro,ENST00000252826,NM_017636.3;TRPM4,missense_variant,p.Arg747Pro,ENST00000427978,NM_001195227.1;TRPM4,3_prime_UTR_variant,,ENST00000595519,NM_001321283.1;TRPM4,3_prime_UTR_variant,,ENST00000598502,NM_001321282.1;TRPM4,3_prime_UTR_variant,,ENST00000598697,NM_001321285.1;TRPM4,non_coding_transcript_exon_variant,,ENST00000596338,;TRPM4,non_coding_transcript_exon_variant,,ENST00000595071,;TRPM4,downstream_gene_variant,,ENST00000595882,;	C	ENST00000252826	Transcript	missense_variant	2801/4109	2675/3645	892/1214	R/P	cGc/cCc	rs866510018	1		1	TRPM4	HGNC	HGNC:17993	protein_coding	YES	CCDS33073.1	ENSP00000252826	Q8TD43		UPI0000070598	NM_017636.3	deleterious(0)		18/25		Transmembrane_helices:TMhelix,hmmpanther:PTHR13800:SF6,hmmpanther:PTHR13800,Pfam_domain:PF00520																	MODERATE	1	SNV	1			1										PASS		rs866510018	.												C	3	2	51	49200329	49200329	G	C	1	0	0	0	0	1	0	0	0	17094	1087	38	4		4	TRPM4	19	49200329	Missense_Mutation	SNP	G	C3N-00549_TP	608598	49200329	9417287	395	16585											
ATF5	0	.	GRCh38	chr19	49930998	49930998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggagccctggagggcGggcttccagtggggggagag	5	6	23	7	1	0	1	0	0	0	1	1	4	1	3	2	8	1	1	2	8	0	2	rs778518946		C3N-00549_TP	C3N-00549_NB	G	G																c.148G>T	p.Gly50Trp	p.G50W	ENST00000423777	2/3	62	42	20	57	57	0	strelka-varscan-mutect	ATF5,missense_variant,p.Gly50Trp,ENST00000423777,NM_001193646.1,NM_001290746.1;ATF5,missense_variant,p.Gly50Trp,ENST00000595125,NM_012068.5;ATF5,missense_variant,p.Gly50Trp,ENST00000597227,;ATF5,missense_variant,p.Gly50Trp,ENST00000596658,;ATF5,missense_variant,p.Gly50Trp,ENST00000600336,;NUP62,upstream_gene_variant,,ENST00000596217,;NUP62,upstream_gene_variant,,ENST00000422090,NM_012346.4,NM_153718.3,NM_001193357.1;NUP62,upstream_gene_variant,,ENST00000352066,NM_016553.4;IL4I1,upstream_gene_variant,,ENST00000595948,NM_001258018.1;IL4I1,upstream_gene_variant,,ENST00000341114,NM_172374.2,NM_001258017.1;NUP62,upstream_gene_variant,,ENST00000597029,NM_153719.3;NUP62,upstream_gene_variant,,ENST00000597723,;NUP62,upstream_gene_variant,,ENST00000593652,;NUP62,upstream_gene_variant,,ENST00000596437,;IL4I1,upstream_gene_variant,,ENST00000596022,;IL4I1,upstream_gene_variant,,ENST00000596011,;IL4I1,upstream_gene_variant,,ENST00000597295,;NUP62,upstream_gene_variant,,ENST00000600935,;NUP62,upstream_gene_variant,,ENST00000599567,;NUP62,upstream_gene_variant,,ENST00000594673,;NUP62,upstream_gene_variant,,ENST00000599788,;NUP62,upstream_gene_variant,,ENST00000596680,;ATF5,upstream_gene_variant,,ENST00000578027,;NUP62,upstream_gene_variant,,ENST00000600583,;NUP62,upstream_gene_variant,,ENST00000599830,;NUP62,upstream_gene_variant,,ENST00000598301,;NUP62,upstream_gene_variant,,ENST00000595463,;NUP62,upstream_gene_variant,,ENST00000599560,;NUP62,upstream_gene_variant,,ENST00000601665,;NUP62,upstream_gene_variant,,ENST00000597814,;NUP62,upstream_gene_variant,,ENST00000599186,;CTC-326K19.6,intron_variant,,ENST00000451973,;IL4I1,upstream_gene_variant,,ENST00000601717,;	T	ENST00000423777	Transcript	missense_variant	525/2069	148/849	50/282	G/W	Ggg/Tgg	rs778518946	1		1	ATF5	HGNC	HGNC:790	protein_coding	YES	CCDS12789.1	ENSP00000396954	Q9Y2D1	A0A024QZG3	UPI000003842F	NM_001193646.1,NM_001290746.1	deleterious(0.02)		2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR13044,hmmpanther:PTHR13044:SF3																	MODERATE	1	SNV	1			1										PASS		rs778518946	.												T	3	4	51	49930998	49930998	G	T	1	0	0	0	0	1	0	0	0	1232	1116	39	1		1	ATF5	19	49930998	Missense_Mutation	SNP	G	C3N-00549_TP	730669	49930998	8686618	396	16586											
SIGLEC11	0	.	GRCh38	chr19	49959529	49959529	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcaggacccagctcagCgtggcagggggctggctgtc	5	7	16	13	1	1	0	1	0	0	0	3	1	2	1	2	5	3	5	2	5	0	0	rs775285253		C3N-00549_TP	C3N-00549_NB	C	C																c.888G>T	p.=	p.T296T	ENST00000447370	5/11	62	13	49	31	31	0	strelka-varscan-mutect	SIGLEC11,synonymous_variant,p.=,ENST00000447370,NM_052884.2;SIGLEC11,synonymous_variant,p.=,ENST00000426971,NM_001135163.1;SIGLEC11,upstream_gene_variant,,ENST00000426296,;CTC-326K19.6,upstream_gene_variant,,ENST00000451973,;	A	ENST00000447370	Transcript	synonymous_variant	979/3173	888/2097	296/698	T	acG/acT	rs775285253	1		-1	SIGLEC11	HGNC	HGNC:15622	protein_coding	YES	CCDS12790.2	ENSP00000412361	Q96RL6		UPI00018131F5	NM_052884.2			5/11		PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF44,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs775285253	.												A	2	1	51	49959529	49959529	C	A	1	0	0	0	0	0	0	0	1	14571	755	27	1		1	SIGLEC11	19	49959529	Silent	SNP	C	C3N-00549_TP	28531	49959529	8658087	397	16587											
KLK10	0	.	GRCh38	chr19	51015506	51015506	+	Missense_Mutation	SNP	T	T	A																															gacctcacactctttagggcTcaggatagtgatgctggagc																								novel		C3N-00549_TP	C3N-00549_NB	T	T																c.589A>T	p.Ser197Cys	p.S197C	ENST00000309958	5/6	200	164	36	226	226	0	strelka-varscan-mutect	KLK10,missense_variant,p.Ser197Cys,ENST00000309958,NM_002776.4;KLK10,missense_variant,p.Ser197Cys,ENST00000391805,NM_001077500.1;KLK10,missense_variant,p.Ser197Cys,ENST00000358789,NM_145888.2;KLK10,downstream_gene_variant,,ENST00000599077,;CTB-147C22.9,downstream_gene_variant,,ENST00000594512,;CTC-518B2.12,downstream_gene_variant,,ENST00000596286,;KLK10,3_prime_UTR_variant,,ENST00000601467,;KLK10,downstream_gene_variant,,ENST00000599987,;	A	ENST00000309958	Transcript	missense_variant	808/3111	589/831	197/276	S/C	Agc/Tgc		1		-1	KLK10	HGNC	HGNC:6358	protein_coding	YES	CCDS12817.1	ENSP00000311746	O43240		UPI000013CCB0	NM_002776.4	deleterious(0)		5/6		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF134,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs766308034	.												A	3	1	51	51015506	51015506	T	A	1	0	0	0	0	1	0	0	0	8267	1551	54	4		4	KLK10	19	51015506	Missense_Mutation	SNP	T	C3N-00549_TP	1055977	51015506	7602110	398	16588	360	2									
KLK10	0	.	GRCh38	chr19	51015507	51015507	+	Silent	SNP	C	C	T																															acctcacactctttagggctCaggatagtgatgctggagca																								novel		C3N-00549_TP	C3N-00549_NB	C	C																c.588G>A	p.=	p.L196L	ENST00000309958	5/6	201	165	36	224	223	1	strelka-varscan-mutect	KLK10,synonymous_variant,p.=,ENST00000309958,NM_002776.4;KLK10,synonymous_variant,p.=,ENST00000391805,NM_001077500.1;KLK10,synonymous_variant,p.=,ENST00000358789,NM_145888.2;KLK10,downstream_gene_variant,,ENST00000599077,;CTB-147C22.9,downstream_gene_variant,,ENST00000594512,;CTC-518B2.12,downstream_gene_variant,,ENST00000596286,;KLK10,3_prime_UTR_variant,,ENST00000601467,;KLK10,downstream_gene_variant,,ENST00000599987,;	T	ENST00000309958	Transcript	synonymous_variant	807/3111	588/831	196/276	L	ctG/ctA		1		-1	KLK10	HGNC	HGNC:6358	protein_coding	YES	CCDS12817.1	ENSP00000311746	O43240		UPI000013CCB0	NM_002776.4			5/6		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF134,SMART_domains:SM00020,Superfamily_domains:SSF50494																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	51	51015507	51015507	C	T	1	0	0	0	0	0	0	0	1	8267	813	29	3		3	KLK10	19	51015507	Silent	SNP	C	C3N-00549_TP	1	51015507	7602109	399	16589	360	2									
SIGLEC14	0	.	GRCh38	chr19	51645992	51645992	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggatcctggaaggctgcAgctcagccttgtggggcggc	7	7	16	11	1	1	0	1	0	0	0	2	2	2	2	2	6	3	3	2	6	1	1	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.490T>C	p.Cys164Arg	p.C164R	ENST00000360844	3/7	43	20	23	60	60	0	strelka-mutect	SIGLEC14,missense_variant,p.Cys164Arg,ENST00000360844,NM_001098612.1;AC018755.18,intron_variant,,ENST00000429354,;AC018755.18,intron_variant,,ENST00000599649,;SIGLEC5,upstream_gene_variant,,ENST00000534261,NM_003830.3;SIGLEC14,upstream_gene_variant,,ENST00000533866,;RPL7P51,upstream_gene_variant,,ENST00000490532,;	G	ENST00000360844	Transcript	missense_variant	532/2035	490/1191	164/396	C/R	Tgc/Cgc		1		-1	SIGLEC14	HGNC	HGNC:32926	protein_coding	YES	CCDS42604.1	ENSP00000354090	Q08ET2		UPI0000E44158	NM_001098612.1	deleterious(0)		3/7		PROSITE_profiles:PS50835,hmmpanther:PTHR12035:SF67,hmmpanther:PTHR12035,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	51	51645992	51645992	A	G	1	0	0	0	0	1	0	0	0	14573	188	7	5		5	SIGLEC14	19	51645992	Missense_Mutation	SNP	A	C3N-00549_TP	630485	51645992	6971624	400	16590											
ZNF616	0	.	GRCh38	chr19	52116191	52116191	+	Missense_Mutation	SNP	A	A	C																															gccacactcattacatttgaAgggtctctctccagtatgaa																								novel		C3N-00549_TP	C3N-00549_NB	A	A																c.973T>G	p.Phe325Val	p.F325V	ENST00000600228	4/4	316	164	152	342	342	0	strelka-varscan-mutect	ZNF616,missense_variant,p.Phe325Val,ENST00000600228,NM_178523.3;ZNF616,3_prime_UTR_variant,,ENST00000330123,;ZNF616,downstream_gene_variant,,ENST00000596290,;	C	ENST00000600228	Transcript	missense_variant	1235/4335	973/2346	325/781	F/V	Ttc/Gtc		1		-1	ZNF616	HGNC	HGNC:28062	protein_coding	YES	CCDS33090.1	ENSP00000471000	Q08AN1		UPI0000140D49	NM_178523.3	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF275,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	51	52116191	52116191	A	C	1	0	0	0	0	1	0	0	0	18616	72	3	5		5	ZNF616	19	52116191	Missense_Mutation	SNP	A	C3N-00549_TP	470199	52116191	6501425	401	16591	361	2									
ZNF616	0	.	GRCh38	chr19	52116193	52116193	+	Missense_Mutation	SNP	G	G	T																															cacactcattacatttgaagGgtctctctccagtatgaact																								novel		C3N-00549_TP	C3N-00549_NB	G	G																c.971C>A	p.Pro324His	p.P324H	ENST00000600228	4/4	314	159	155	337	337	0	strelka-varscan-mutect	ZNF616,missense_variant,p.Pro324His,ENST00000600228,NM_178523.3;ZNF616,3_prime_UTR_variant,,ENST00000330123,;ZNF616,downstream_gene_variant,,ENST00000596290,;	T	ENST00000600228	Transcript	missense_variant	1233/4335	971/2346	324/781	P/H	cCc/cAc		1		-1	ZNF616	HGNC	HGNC:28062	protein_coding	YES	CCDS33090.1	ENSP00000471000	Q08AN1		UPI0000140D49	NM_178523.3	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF275,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	52116193	52116193	G	T	1	0	0	0	0	1	0	0	0	18616	1232	43	2		2	ZNF616	19	52116193	Missense_Mutation	SNP	G	C3N-00549_TP	2	52116193	6501423	402	16592	361	2									
ZNF528	0	.	GRCh38	chr19	52415828	52415828	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactggagagaaaccttacAgttgtaataaatgtggcaag	16	10	10	5	0	0	1	0	0	0	1	0	3	0	2	1	2	3	3	1	2	7	5	novel		C3N-00549_TP	C3N-00549_NB	A	A																c.976A>T	p.Ser326Cys	p.S326C	ENST00000360465	7/7	118	89	29	142	142	0	strelka-varscan-mutect	ZNF528,missense_variant,p.Ser326Cys,ENST00000360465,NM_032423.2;ZNF528,3_prime_UTR_variant,,ENST00000391788,;ZNF528,downstream_gene_variant,,ENST00000448954,;ZNF528,non_coding_transcript_exon_variant,,ENST00000598479,;ZNF528,downstream_gene_variant,,ENST00000479718,;	T	ENST00000360465	Transcript	missense_variant	1402/3978	976/1887	326/628	S/C	Agt/Tgt		1		1	ZNF528	HGNC	HGNC:29384	protein_coding	YES	CCDS33091.1	ENSP00000353652	Q3MIS6		UPI00001B6535	NM_032423.2	deleterious(0)		7/7		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF143,hmmpanther:PTHR24377,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	52415828	52415828	A	T	1	0	0	0	0	1	0	0	0	18542	188	7	4		4	ZNF528	19	52415828	Missense_Mutation	SNP	A	C3N-00549_TP	299635	52415828	6201788	403	16593											
ZNF677	0	.	GRCh38	chr19	53238263	53238263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggatgaaatactggtgtGcactatctcttatagaaaca	14	12	8	7	0	1	2	0	1	1	1	2	3	1	3	0	2	3	1	0	2	6	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.464C>A	p.Ala155Glu	p.A155E	ENST00000598513	5/5	126	88	38	95	95	0	strelka-varscan-mutect	ZNF677,missense_variant,p.Ala155Glu,ENST00000598513,NM_001317998.1,NM_182609.2;ZNF677,missense_variant,p.Ala155Glu,ENST00000333952,;ZNF677,downstream_gene_variant,,ENST00000594681,;ZNF677,downstream_gene_variant,,ENST00000599012,;ZNF677,downstream_gene_variant,,ENST00000598806,;ZNF677,downstream_gene_variant,,ENST00000594517,;CTD-2245F17.6,upstream_gene_variant,,ENST00000596041,;ZNF677,downstream_gene_variant,,ENST00000599328,;ZNF677,downstream_gene_variant,,ENST00000593539,;	T	ENST00000598513	Transcript	missense_variant	615/3497	464/1755	155/584	A/E	gCa/gAa		1		-1	ZNF677	HGNC	HGNC:28730	protein_coding	YES	CCDS12861.1	ENSP00000469391	Q86XU0		UPI000017DF85	NM_001317998.1,NM_182609.2	tolerated(0.12)		5/5																			MODERATE	1	SNV	1			1										PASS		rs1267713089	.												T	3	4	51	53238263	53238263	G	T	1	0	0	0	0	1	0	0	0	18657	1319	46	2		2	ZNF677	19	53238263	Missense_Mutation	SNP	G	C3N-00549_TP	822435	53238263	5379353	404	16594											
VN1R2	0	.	GRCh38	chr19	53258640	53258640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaacccaccaaacctgtgGggctggaccctacactattc	12	7	8	14	0	0	1	0	0	0	1	1	2	0	2	4	3	3	1	4	3	4	3			C3N-00549_TP	C3N-00549_NB	G	G																c.265G>T	p.Gly89Trp	p.G89W	ENST00000341702	1/1	122	89	33	114	113	1	strelka-varscan-mutect	VN1R2,missense_variant,p.Gly89Trp,ENST00000341702,NM_173856.2;ZNF677,upstream_gene_variant,,ENST00000598513,NM_001317998.1,NM_182609.2;ZNF677,upstream_gene_variant,,ENST00000594681,;ZNF677,upstream_gene_variant,,ENST00000599012,;ZNF677,upstream_gene_variant,,ENST00000601828,;ZNF677,upstream_gene_variant,,ENST00000601413,;ZNF677,upstream_gene_variant,,ENST00000598806,;ZNF677,upstream_gene_variant,,ENST00000594517,;ZNF677,upstream_gene_variant,,ENST00000595293,;VN1R2,upstream_gene_variant,,ENST00000598458,;	T	ENST00000341702	Transcript	missense_variant	349/1311	265/1188	89/395	G/W	Ggg/Tgg	COSM5249405	1		1	VN1R2	HGNC	HGNC:19872	protein_coding	YES	CCDS12862.1	ENSP00000351244	Q8NFZ6		UPI0000062046	NM_173856.2	deleterious(0)		1/1													1						MODERATE		SNV			1	1										PASS		rs1430771919	.												T	3	4	51	53258640	53258640	G	T	1	0	0	0	0	1	0	0	0	17727	1232	43	2		2	VN1R2	19	53258640	Missense_Mutation	SNP	G	C3N-00549_TP	20377	53258640	5358976	405	16595											
ZNF813	0	.	GRCh38	chr19	53491533	53491533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcatcatagacttcataGtggagagaaaccctacaagt	15	9	8	9	1	3	2	3	0	0	2	3	4	3	3	1	1	2	0	1	1	5	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.1301G>T	p.Ser434Ile	p.S434I	ENST00000396403	4/4	247	185	62	170	170	0	strelka-varscan-mutect	ZNF813,missense_variant,p.Ser434Ile,ENST00000396403,NM_001004301.3;ZNF813,downstream_gene_variant,,ENST00000490956,;ZNF813,downstream_gene_variant,,ENST00000468450,;CTD-2224J9.4,upstream_gene_variant,,ENST00000483735,;	T	ENST00000396403	Transcript	missense_variant	1429/6151	1301/1854	434/617	S/I	aGt/aTt		1		1	ZNF813	HGNC	HGNC:33257	protein_coding	YES	CCDS46172.1	ENSP00000379684	Q6ZN06		UPI000040C511	NM_001004301.3	deleterious(0.01)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		rs1306575204	.												T	3	4	51	53491533	53491533	G	T	1	0	0	0	0	1	0	0	0	18761	1029	36	2		2	ZNF813	19	53491533	Missense_Mutation	SNP	G	C3N-00549_TP	232893	53491533	5126083	406	16596											
TARM1	0	.	GRCh38	chr19	54081334	54081334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggagggaaagcagcttagGgatcatgatggctccttagc	11	8	15	7	0	1	1	1	1	0	0	2	5	2	4	1	4	3	3	1	4	3	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.7C>A	p.Pro3Thr	p.P3T	ENST00000432826	1/5	72	54	18	174	174	0	strelka-varscan-mutect	TARM1,missense_variant,p.Pro3Thr,ENST00000432826,NM_001135686.2;TARM1,upstream_gene_variant,,ENST00000616041,;	T	ENST00000432826	Transcript	missense_variant	32/897	7/816	3/271	P/T	Cct/Act		1		-1	TARM1	HGNC	HGNC:37250	protein_coding	YES	CCDS46173.1	ENSP00000439454	B6A8C7		UPI00034F23B2	NM_001135686.2	tolerated(0.05)		1/5		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF84,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs1235224152	.												T	3	4	51	54081334	54081334	G	T	1	0	0	0	0	1	0	0	0	15957	1232	43	2		2	TARM1	19	54081334	Missense_Mutation	SNP	G	C3N-00549_TP	589801	54081334	4536282	407	16597											
LILRB2	0	.	GRCh38	chr19	54279577	54279577	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccacctgtgactcacactgGagggtcacccttcctcctga	7	9	9	16	0	2	2	2	2	0	0	4	3	4	3	5	2	0	0	5	2	0	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.426C>A	p.=	p.L142L	ENST00000391749	5/14	230	117	113	219	219	0	strelka-varscan-mutect	LILRB2,synonymous_variant,p.=,ENST00000391748,NM_001278403.2;LILRB2,synonymous_variant,p.=,ENST00000434421,NM_001278404.2;LILRB2,synonymous_variant,p.=,ENST00000314446,NM_001080978.3;LILRB2,synonymous_variant,p.=,ENST00000391749,NM_005874.4;LILRB2,synonymous_variant,p.=,ENST00000391746,NM_001278405.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,;	T	ENST00000391749	Transcript	synonymous_variant	698/2286	426/1797	142/598	L	ctC/ctA		1		-1	LILRB2	HGNC	HGNC:6606	protein_coding	YES	CCDS12886.1	ENSP00000375629	Q8N423		UPI00034F23A2	NM_005874.4			5/14		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF117,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	51	54279577	54279577	G	T	1	0	0	0	0	0	0	0	1	8699	1161	41	2		2	LILRB2	19	54279577	Silent	SNP	G	C3N-00549_TP	198243	54279577	4338039	408	16598											
LILRA5	0	.	GRCh38	chr19	54312355	54312355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcctgcacgtgggtcctgGggcccagactcagccctgga	5	7	14	15	1	1	1	1	0	0	1	2	2	2	2	4	4	3	1	4	4	0	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.104C>T	p.Pro35Leu	p.P35L	ENST00000432233	3/7	308	234	74	310	310	0	strelka-varscan-mutect	LILRA5,missense_variant,p.Pro35Leu,ENST00000432233,NM_021250.3;LILRA5,intron_variant,,ENST00000486742,NM_181985.3;AC008984.2,intron_variant,,ENST00000616950,;LILRA5,non_coding_transcript_exon_variant,,ENST00000446712,;LILRA5,intron_variant,,ENST00000489504,;LILRA5,upstream_gene_variant,,ENST00000477720,;	A	ENST00000432233	Transcript	missense_variant	224/1363	104/900	35/299	P/L	cCc/cTc		1		-1	LILRA5	HGNC	HGNC:16309	protein_coding	YES	CCDS12888.1	ENSP00000404236	A6NI73		UPI0000034C06	NM_021250.3	tolerated(0.83)		3/7		hmmpanther:PTHR11738																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	54312355	54312355	G	A	1	0	0	0	0	1	0	0	0	8696	1232	43	3		3	LILRA5	19	54312355	Missense_Mutation	SNP	G	C3N-00549_TP	32778	54312355	4305261	409	16599											
NLRP2	0	.	GRCh38	chr19	54986184	54986184	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccccagctgatgctcatcgGaacctctgcctagctcttcg	6	11	8	16	2	3	1	1	1	2	0	6	2	4	2	4	1	5	3	4	1	2	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.2235G>C	p.=	p.R745R	ENST00000543010	8/13	454	247	207	438	438	0	strelka-varscan-mutect	NLRP2,synonymous_variant,p.=,ENST00000543010,NM_001174081.1;NLRP2,synonymous_variant,p.=,ENST00000448584,NM_017852.3;NLRP2,synonymous_variant,p.=,ENST00000537859,NM_001174082.1;NLRP2,synonymous_variant,p.=,ENST00000263437,;NLRP2,synonymous_variant,p.=,ENST00000339757,;NLRP2,synonymous_variant,p.=,ENST00000391721,;NLRP2,synonymous_variant,p.=,ENST00000427260,NM_001174083.1;NLRP2,synonymous_variant,p.=,ENST00000540005,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,downstream_gene_variant,,ENST00000585500,;NLRP2,downstream_gene_variant,,ENST00000397169,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,upstream_gene_variant,,ENST00000586512,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;NLRP2,upstream_gene_variant,,ENST00000381637,;	C	ENST00000543010	Transcript	synonymous_variant	2378/3576	2235/3189	745/1062	R	cgG/cgC		1		1	NLRP2	HGNC	HGNC:22948	protein_coding	YES	CCDS12913.1	ENSP00000445135	Q9NX02		UPI000004C0CC	NM_001174081.1			8/13		hmmpanther:PTHR24106:SF129,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	LOW	1	SNV	1			1										PASS		rs1190657804	.												C	2	2	51	54986184	54986184	G	C	1	0	0	0	0	0	0	0	1	10514	1161	41	4		4	NLRP2	19	54986184	Silent	SNP	G	C3N-00549_TP	673829	54986184	3631432	410	16600											
TNNI3	0	.	GRCh38	chr19	55154036	55154036	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcccacactcaccttctcGgtgtcctccttcttcacctg	5	13	5	18	1	4	0	2	0	2	0	7	0	6	0	5	1	1	0	5	1	1	4	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.543C>A	p.=	p.T181T	ENST00000344887	7/8	337	177	160	314	313	1	strelka-varscan-mutect	TNNI3,synonymous_variant,p.=,ENST00000344887,NM_000363.4;TNNI3,synonymous_variant,p.=,ENST00000588882,;DNAAF3,downstream_gene_variant,,ENST00000455045,NM_001256716.1;DNAAF3,downstream_gene_variant,,ENST00000527223,NM_001256714.1;DNAAF3,downstream_gene_variant,,ENST00000391720,NM_178837.4;DNAAF3,downstream_gene_variant,,ENST00000524407,NM_001256715.1;TNNT1,upstream_gene_variant,,ENST00000588981,NM_003283.5;TNNT1,upstream_gene_variant,,ENST00000587758,NM_001291774.1;TNNT1,upstream_gene_variant,,ENST00000291901,NM_001126132.2;TNNT1,upstream_gene_variant,,ENST00000356783,NM_001126133.2;TNNT1,upstream_gene_variant,,ENST00000536926,;DNAAF3,downstream_gene_variant,,ENST00000588076,;TNNT1,upstream_gene_variant,,ENST00000588426,;TNNT1,upstream_gene_variant,,ENST00000588147,;TNNI3,downstream_gene_variant,,ENST00000586858,;CTD-2587H24.5,upstream_gene_variant,,ENST00000591665,;DNAAF3,downstream_gene_variant,,ENST00000587789,;TNNT1,upstream_gene_variant,,ENST00000592920,;TNNI3,downstream_gene_variant,,ENST00000590463,;TNNI3,downstream_gene_variant,,ENST00000586669,;TNNI3,non_coding_transcript_exon_variant,,ENST00000585806,;TNNI3,non_coding_transcript_exon_variant,,ENST00000589864,;DNAAF3,downstream_gene_variant,,ENST00000528412,;DNAAF3,downstream_gene_variant,,ENST00000533527,;TNNI3,downstream_gene_variant,,ENST00000587176,;CTD-2587H24.4,downstream_gene_variant,,ENST00000587871,;TNNI3,downstream_gene_variant,,ENST00000586446,;TNNT1,upstream_gene_variant,,ENST00000586282,;	T	ENST00000344887	Transcript	synonymous_variant	686/840	543/633	181/210	T	acC/acA		1		-1	TNNI3	HGNC	HGNC:11947	protein_coding	YES	CCDS42628.1	ENSP00000341838	P19429	Q6FGX2	UPI0000155A10	NM_000363.4			7/8		hmmpanther:PTHR13738:SF2,hmmpanther:PTHR13738,Gene3D:1.20.5.350,Superfamily_domains:SSF90250																	LOW	1	SNV	1			1										PASS		rs926550445	.												T	2	4	51	55154036	55154036	G	T	1	0	0	0	0	0	0	0	1	16801	1103	39	1		1	TNNI3	19	55154036	Silent	SNP	G	C3N-00549_TP	167852	55154036	3463580	411	16601											
HSPBP1	0	.	GRCh38	chr19	55274492	55274492	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcacccaggcccagcacCtgctcctggatggctgccac	7	5	12	17	0	0	0	0	0	0	0	1	1	1	1	5	4	3	4	5	4	0	0	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.546G>A	p.=	p.Q182Q	ENST00000255631	5/9	332	236	96	288	288	0	strelka-varscan-mutect	HSPBP1,synonymous_variant,p.=,ENST00000255631,NM_001130106.1,NM_012267.4;HSPBP1,synonymous_variant,p.=,ENST00000433386,;HSPBP1,synonymous_variant,p.=,ENST00000587922,NM_001297600.1;HSPBP1,synonymous_variant,p.=,ENST00000593263,;HSPBP1,synonymous_variant,p.=,ENST00000585927,;HSPBP1,synonymous_variant,p.=,ENST00000587959,;HSPBP1,downstream_gene_variant,,ENST00000588971,;HSPBP1,downstream_gene_variant,,ENST00000585698,;	T	ENST00000255631	Transcript	synonymous_variant	857/1768	546/1080	182/359	Q	caG/caA		1		-1	HSPBP1	HGNC	HGNC:24989	protein_coding	YES	CCDS33111.1	ENSP00000255631	Q9NZL4		UPI0000074015	NM_001130106.1,NM_012267.4			5/9		hmmpanther:PTHR19316:SF18,hmmpanther:PTHR19316,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	51	55274492	55274492	C	T	1	0	0	0	0	0	0	0	1	7323	680	24	3		3	HSPBP1	19	55274492	Silent	SNP	C	C3N-00549_TP	120456	55274492	3343124	412	16602											
FAM71E2	0	.	GRCh38	chr19	55361409	55361409	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaacagcagggcctgctcaCctgcatgtctgctgatgggc	8	8	12	13	0	2	1	1	1	1	0	2	1	2	1	2	2	5	4	2	2	1	0	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.589+1G>T		p.X197_splice	ENST00000424985		25	20	5	43	43	0	strelka-varscan-mutect	FAM71E2,splice_donor_variant,,ENST00000424985,NM_001145402.1;IL11,downstream_gene_variant,,ENST00000264563,NM_000641.3;IL11,downstream_gene_variant,,ENST00000585513,;IL11,downstream_gene_variant,,ENST00000590625,NM_001267718.1;FAM71E2,intron_variant,,ENST00000585734,;CTD-2105E13.6,upstream_gene_variant,,ENST00000591954,;	A	ENST00000424985	Transcript	splice_donor_variant	-/3191	589/2769	197/922				1		-1	FAM71E2	HGNC	HGNC:25278	protein_coding	YES		ENSP00000398617	Q8N5Q1		UPI0001949ABA	NM_001145402.1				4/10																		HIGH		SNV	5			1										PASS		rs1434809172	.												A	5	1	51	55361409	55361409	C	A	1	0	0	0	0	0	0	1	0	5476	521	18	2		2	FAM71E2	19	55361409	Splice_Site	SNP	C	C3N-00549_TP	86917	55361409	3256207	413	16603											
SBK3	0	.	GRCh38	chr19	55540915	55540915	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctcatctgtccactcCtccaggcttgagcctccctc	5	11	5	20	0	3	1	2	1	1	0	8	1	7	1	6	1	1	1	6	1	0	1	rs73067164		C3N-00549_TP	C3N-00549_NB	C	C																c.1011G>T	p.Glu337Asp	p.E337D	ENST00000612221	4/4	152	80	72	151	151	0	strelka-varscan-mutect	SBK3,missense_variant,p.Glu337Asp,ENST00000612221,NM_001199824.2;SBK2,upstream_gene_variant,,ENST00000413299,NM_001101401.2;SBK2,upstream_gene_variant,,ENST00000344158,;SBK3,downstream_gene_variant,,ENST00000592464,;	A	ENST00000612221	Transcript	missense_variant	1011/1270	1011/1080	337/359	E/D	gaG/gaT	rs73067164	1		-1	SBK3	HGNC	HGNC:44121	protein_coding	YES	CCDS74457.1	ENSP00000483467	P0C264		UPI00004FF064	NM_001199824.2	deleterious(0.05)		4/4		hmmpanther:PTHR24363,hmmpanther:PTHR24363:SF6																	MODERATE	1	SNV	5			1										PASS		rs73067164	.												A	3	1	51	55540915	55540915	C	A	1	0	0	0	0	1	0	0	0	14126	680	24	2		2	SBK3	19	55540915	Missense_Mutation	SNP	C	C3N-00549_TP	179506	55540915	3076701	414	16604											
NLRP4	0	.	GRCh38	chr19	55858563	55858563	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccgagggcccgactccGcaaacccagcaccagctgaa	10	3	12	16	3	0	1	0	1	0	0	1	3	1	1	5	2	4	3	5	2	2	0	rs147261455		C3N-00549_TP	C3N-00549_NB	G	G																c.1170G>T	p.=	p.P390P	ENST00000301295	3/10	170	95	75	178	178	0	strelka-varscan-mutect	NLRP4,synonymous_variant,p.=,ENST00000301295,NM_134444.4;NLRP4,synonymous_variant,p.=,ENST00000587891,;NLRP4,upstream_gene_variant,,ENST00000589437,;NLRP4,downstream_gene_variant,,ENST00000587464,;	T	ENST00000301295	Transcript	synonymous_variant	1592/3670	1170/2985	390/994	P	ccG/ccT	rs147261455	1		1	NLRP4	HGNC	HGNC:22943	protein_coding	YES	CCDS12936.1	ENSP00000301295	Q96MN2		UPI000013E6FD	NM_134444.4			3/10		hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106																	LOW	1	SNV	1			1										PASS		rs147261455	.												T	2	4	51	55858563	55858563	G	T	1	0	0	0	0	0	0	0	1	10517	1074	38	1		1	NLRP4	19	55858563	Silent	SNP	G	C3N-00549_TP	317648	55858563	2759053	415	16605											
ZNF71	0	.	GRCh38	chr19	56621878	56621878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcaaggccttcagccaGcgcatgaacctcactgtgca	9	7	11	14	2	2	1	2	1	0	0	2	1	2	1	3	2	5	3	3	2	2	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.591G>T	p.Gln197His	p.Q197H	ENST00000328070	3/3	128	78	50	148	148	0	strelka-varscan-mutect	ZNF71,missense_variant,p.Gln197His,ENST00000328070,NM_021216.4;ZNF71,downstream_gene_variant,,ENST00000599599,;	T	ENST00000328070	Transcript	missense_variant	825/5428	591/1470	197/489	Q/H	caG/caT		1		1	ZNF71	HGNC	HGNC:13141	protein_coding	YES	CCDS12947.1	ENSP00000328245	Q9NQZ8		UPI00000437FA	NM_021216.4	deleterious(0.04)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF115,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs923968108	.												T	3	4	51	56621878	56621878	G	T	1	0	0	0	0	1	0	0	0	18689	962	34	2		2	ZNF71	19	56621878	Missense_Mutation	SNP	G	C3N-00549_TP	763315	56621878	1995738	416	16606											
SIRPA	0	.	GRCh38	chr20	1915286	1915286	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagaaggccacttcccccgGgtaacaactgtttcagacct	12	8	8	13	1	1	2	1	0	0	2	2	2	2	2	4	2	2	2	4	2	4	3	rs761970927		C3N-00549_TP	C3N-00549_NB	G	G																c.267G>T	p.=	p.R89R	ENST00000400068	3/9	496	305	191	412	410	2	strelka-varscan-mutect	SIRPA,synonymous_variant,p.=,ENST00000622179,;SIRPA,synonymous_variant,p.=,ENST00000400068,NM_001040022.1;SIRPA,synonymous_variant,p.=,ENST00000358771,NM_001040023.1;SIRPA,synonymous_variant,p.=,ENST00000356025,NM_080792.2;	T	ENST00000400068	Transcript	synonymous_variant	627/4201	267/1515	89/504	R	cgG/cgT	rs761970927	1		1	SIRPA	HGNC	HGNC:9662	protein_coding	YES	CCDS13022.1	ENSP00000382941	P78324		UPI0000073ADE	NM_001040022.1			3/9		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF12,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs761970927	.												T	2	4	51	1915286	1915286	G	T	1	0	0	0	0	0	0	0	1	14595	1219	43	2		2	SIRPA	20	1915286	Silent	SNP	G	C3N-00549_TP		1915286	62528881	417	16607											
STK35	0	.	GRCh38	chr20	2102825	2102825	+	Frame_Shift_Del	DEL	G	G	-																															ccggacggagggatgaggcaGggggggcccgggcagcgccg																										C3N-00549_TP	C3N-00549_NB	G	G																c.358delG	p.Ala120ProfsTer45	p.A120Pfs*45	ENST00000381482	2/4	94	89	5	87	87	0	varindel-pindel	STK35,frameshift_variant,p.Ala120ProfsTer45,ENST00000381482,NM_080836.3;STK35,upstream_gene_variant,,ENST00000493263,;	-	ENST00000381482	Transcript	frameshift_variant	623/6685	352/1605	118/534	G/X	Ggg/gg	COSM5644284	1		1	STK35	HGNC	HGNC:16254	protein_coding	YES	CCDS13024.2	ENSP00000370891	Q8TDR2		UPI00003FCD67	NM_080836.3			2/4		hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF59,Low_complexity_(Seg):seg											1						HIGH	1	deletion	5	6	1	1										PASS		.	.												-	7	5	51	2102825	2102825	G	-	1	0	1	0	1	0	0	0	0	15678	1000	35	0		0	STK35	20	2102825	Frame_Shift_Del	DEL	G	C3N-00549_TP	187539	2102825	62341342	418	16608											
ASXL1	0	.	GRCh38	chr20	32434922	32434922	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctactacagagggctacagTtggactcacagatgggctag	11	8	12	10	0	1	2	1	0	0	2	1	3	1	3	1	3	3	3	1	3	4	5	rs761847705		C3N-00549_TP	C3N-00549_NB	T	T																c.2210T>G	p.Val737Gly	p.V737G	ENST00000375687	13/13	577	420	157	272	272	0	strelka-varscan-mutect	ASXL1,missense_variant,p.Val737Gly,ENST00000613218,;ASXL1,missense_variant,p.Val737Gly,ENST00000375687,NM_015338.5;ASXL1,missense_variant,p.Val732Gly,ENST00000306058,;ASXL1,missense_variant,p.Val737Gly,ENST00000620121,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000619344,;ASXL1,downstream_gene_variant,,ENST00000555564,;	G	ENST00000375687	Transcript	missense_variant	2634/7031	2210/4626	737/1541	V/G	gTt/gGt	rs761847705,COSM4770116,COSM4770117	1		1	ASXL1	HGNC	HGNC:18318	protein_coding	YES	CCDS13201.1	ENSP00000364839	Q8IXJ9		UPI000018691A	NM_015338.5	tolerated_low_confidence(0.76)		13/13		hmmpanther:PTHR13578:SF19,hmmpanther:PTHR13578											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs761847705	.												G	3	3	51	32434922	32434922	T	G	1	0	0	0	0	1	0	0	0	1214	1725	60	5		5	ASXL1	20	32434922	Missense_Mutation	SNP	T	C3N-00549_TP	30332097	32434922	32009245	419	16609											
LPIN3	0	.	GRCh38	chr20	41349094	41349094	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtggccccttagcagtgTccagttggaagagaagtctt	8	12	12	9	0	1	1	0	0	1	1	2	3	2	2	3	2	1	2	3	2	3	4	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.560T>G	p.Val187Gly	p.V187G	ENST00000373257	5/20	196	139	57	98	98	0	strelka-varscan-mutect	LPIN3,missense_variant,p.Val187Gly,ENST00000373257,;LPIN3,missense_variant,p.Val188Gly,ENST00000632009,NM_001301860.1;LPIN3,upstream_gene_variant,,ENST00000445975,;	G	ENST00000373257	Transcript	missense_variant,splice_region_variant	651/4363	560/2556	187/851	V/G	gTc/gGc		1		1	LPIN3	HGNC	HGNC:14451	protein_coding	YES		ENSP00000362354	Q9BQK8		UPI0000470AE3		tolerated(0.36)		5/20		hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF32																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	51	41349094	41349094	T	G	1	0	0	0	0	1	0	0	0	8820	1681	58	5		5	LPIN3	20	41349094	Missense_Mutation	SNP	T	C3N-00549_TP	8914172	41349094	23095073	420	16610											
PTPRT	0	.	GRCh38	chr20	42119970	42119970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtgccgaggtcgatggtatCcctggataacaggagaaaag	13	7	14	7	2	0	1	0	0	0	1	2	5	1	2	2	4	2	1	2	4	4	2			C3N-00549_TP	C3N-00549_NB	C	C																c.2906G>C	p.Gly969Ala	p.G969A	ENST00000373198	21/32	144	115	29	85	85	0	strelka-varscan-mutect	PTPRT,missense_variant,p.Gly969Ala,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Gly972Ala,ENST00000373193,;PTPRT,missense_variant,p.Gly940Ala,ENST00000373201,;PTPRT,missense_variant,p.Gly949Ala,ENST00000373190,;PTPRT,missense_variant,p.Gly940Ala,ENST00000373184,;PTPRT,missense_variant,p.Gly959Ala,ENST00000356100,;PTPRT,missense_variant,p.Gly950Ala,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Gly568Ala,ENST00000612229,;PTPRT,missense_variant,p.Gly585Ala,ENST00000618610,;PTPRT,splice_region_variant,,ENST00000617474,;	G	ENST00000373198	Transcript	missense_variant,splice_region_variant	3142/12746	2906/4383	969/1460	G/A	gGa/gCa	COSM5586358,COSM5586359	1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	deleterious(0)		21/32		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,SMART_domains:SM00194,Superfamily_domains:SSF52799											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												G	3	3	51	42119970	42119970	C	G	1	0	0	0	0	1	0	0	0	12967	869	30	4		4	PTPRT	20	42119970	Missense_Mutation	SNP	C	C3N-00549_TP	770876	42119970	22324197	421	16611											
CEBPB	0	.	GRCh38	chr20	50191420	50191420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgacgactacgggggcaaGaactgcaagaagccggccga	12	3	14	12	5	0	2	0	0	0	2	1	5	1	2	3	3	4	2	3	3	5	1	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.387G>T	p.Lys129Asn	p.K129N	ENST00000303004	1/1	257	110	147	202	202	0	strelka-varscan-mutect	CEBPB,missense_variant,p.Lys129Asn,ENST00000303004,NM_001285879.1,NM_005194.3,NM_001285878.1;CEBPB-AS1,non_coding_transcript_exon_variant,,ENST00000613921,;	T	ENST00000303004	Transcript	missense_variant	687/1956	387/1038	129/345	K/N	aaG/aaT		1		1	CEBPB	HGNC	HGNC:1834	protein_coding	YES	CCDS13429.1	ENSP00000305422	P17676		UPI000000D8BA	NM_001285879.1,NM_005194.3,NM_001285878.1	tolerated(0.39)		1/1		hmmpanther:PTHR23334:SF21,hmmpanther:PTHR23334,PIRSF_domain:PIRSF005879																	MODERATE		SNV				1										PASS		rs1400337208	.												T	3	4	51	50191420	50191420	G	T	1	0	0	0	0	1	0	0	0	2906	933	33	2		2	CEBPB	20	50191420	Missense_Mutation	SNP	G	C3N-00549_TP	8071450	50191420	14252747	422	16612											
TSHZ2	0	.	GRCh38	chr20	53255397	53255397	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagaagccaaaaagaccGagctgggtcccctgaaggag	13	4	12	12	1	0	3	0	1	0	2	2	5	2	4	5	2	2	1	5	2	4	0	rs149845942		C3N-00549_TP	C3N-00549_NB	G	G																c.1939G>T	p.Glu647Ter	p.E647*	ENST00000371497	2/3	178	83	95	97	97	0	strelka-varscan-mutect	TSHZ2,stop_gained,p.Glu647Ter,ENST00000371497,NM_173485.5;TSHZ2,stop_gained,p.Glu644Ter,ENST00000603338,NM_001193421.1;TSHZ2,stop_gained,p.Glu644Ter,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	T	ENST00000371497	Transcript	stop_gained	2826/12187	1939/3105	647/1034	E/*	Gag/Tag	rs149845942	1		1	TSHZ2	HGNC	HGNC:13010	protein_coding	YES	CCDS33490.1	ENSP00000360552	Q9NRE2		UPI0000206747	NM_173485.5			2/3		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF3																	HIGH	1	SNV	1			1										PASS		rs149845942	.												T	4	4	51	53255397	53255397	G	T	1	0	0	0	0	0	1	0	0	17129	1059	37	1		1	TSHZ2	20	53255397	Nonsense_Mutation	SNP	G	C3N-00549_TP	3063977	53255397	11188770	423	16613											
BCAS1	0	.	GRCh38	chr20	54028887	54028888	+	Frame_Shift_Ins	INS	-	-	T																															ctttcccaagattctttccgINSttggcatccgcaacagcact																								novel		C3N-00549_TP	C3N-00549_NB	-	-																c.227dupA	p.Asn76LysfsTer17	p.N76Kfs*17	ENST00000395961	4/12	272	117	155	146	146	0	sindel-varindel-pindel	BCAS1,frameshift_variant,p.Asn76LysfsTer17,ENST00000395961,NM_003657.2;BCAS1,frameshift_variant,p.Asn76LysfsTer17,ENST00000371435,NM_001316361.2,NM_001323347.1;BCAS1,upstream_gene_variant,,ENST00000448484,;	T	ENST00000395961	Transcript	frameshift_variant	394-395/3303	227-228/1755	76/584	N/KX	aac/aaAc		1		-1	BCAS1	HGNC	HGNC:974	protein_coding	YES	CCDS13444.1	ENSP00000379290	O75363		UPI000013D2E2	NM_003657.2			4/12		hmmpanther:PTHR15016																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	51	54028887	54028887	-	T	1	0	1	1	0	0	0	0	0	1497	1136	40	0		0	BCAS1	20	54028887	Frame_Shift_Ins	INS	-	C3N-00549_TP	773490	54028887	10415280	424	16614											
EEF1A2	0	.	GRCh38	chr20	63490648	63490648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccactgacttcacctcaGtggtgatgttcactggcgca	7	12	9	13	1	4	2	3	2	1	0	5	2	4	2	2	2	0	2	2	2	0	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.860C>A	p.Thr287Asn	p.T287N	ENST00000217182	6/8	642	287	355	290	289	1	strelka-varscan-mutect	EEF1A2,missense_variant,p.Thr287Asn,ENST00000217182,NM_001958.3;EEF1A2,missense_variant,p.Thr287Asn,ENST00000298049,;	T	ENST00000217182	Transcript	missense_variant	1189/2006	860/1392	287/463	T/N	aCt/aAt		1		-1	EEF1A2	HGNC	HGNC:3192	protein_coding	YES	CCDS13522.1	ENSP00000217182	Q05639		UPI0000000136	NM_001958.3	deleterious_low_confidence(0)		6/8		HAMAP:MF_00118_A,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,Pfam_domain:PF03144,Gene3D:2.40.30.10,TIGRFAM_domain:TIGR00483,Superfamily_domains:SSF50447																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	63490648	63490648	G	T	1	0	0	0	0	1	0	0	0	4753	1029	36	2		2	EEF1A2	20	63490648	Missense_Mutation	SNP	G	C3N-00549_TP	9461761	63490648	953519	425	16615											
CXADR	0	.	GRCh38	chr21	17561469	17561469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaaggaagttcatcacGatatcaggtaattaagtgag	17	10	10	4	1	3	2	3	2	0	0	3	4	3	3	0	2	0	2	0	2	6	4	rs372788152		C3N-00549_TP	C3N-00549_NB	G	G																c.826G>T	p.Asp276Tyr	p.D276Y	ENST00000284878	6/7	84	53	31	72	72	0	strelka-varscan-mutect	CXADR,missense_variant,p.Asp276Tyr,ENST00000284878,NM_001338.4;CXADR,missense_variant,p.Asp276Tyr,ENST00000400169,NM_001207066.1;CXADR,intron_variant,,ENST00000400166,NM_001207063.1;CXADR,intron_variant,,ENST00000400165,NM_001207064.1;CXADR,intron_variant,,ENST00000356275,NM_001207065.1;	T	ENST00000284878	Transcript	missense_variant	1574/6254	826/1098	276/365	D/Y	Gat/Tat	rs372788152,COSM5577386,COSM5577387	1		1	CXADR	HGNC	HGNC:2559	protein_coding	YES	CCDS33519.1	ENSP00000284878	P78310		UPI000004F892	NM_001338.4	deleterious(0)		6/7		hmmpanther:PTHR12231:SF146,hmmpanther:PTHR12231											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs372788152	.												T	3	4	51	17561469	17561469	G	T	1	0	0	0	0	1	0	0	0	3886	1058	37	1		1	CXADR	21	17561469	Missense_Mutation	SNP	G	C3N-00549_TP		17561469	29148514	426	16616											
N6AMT1	0	.	GRCh38	chr21	28878258	28878258	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaggagatctggaaccaGgggaaaaaacctgtccatga	16	6	12	7	0	1	3	0	2	1	1	2	6	2	5	3	4	2	0	3	4	5	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.472C>G	p.Leu158Val	p.L158V	ENST00000303775	5/6	96	77	19	132	132	0	strelka-varscan-mutect	N6AMT1,missense_variant,p.Leu158Val,ENST00000303775,NM_013240.5;N6AMT1,missense_variant,p.Leu130Val,ENST00000351429,NM_182749.4;N6AMT1,missense_variant,p.Leu158Val,ENST00000460212,;	C	ENST00000303775	Transcript	missense_variant	498/4865	472/645	158/214	L/V	Ctg/Gtg		1		-1	N6AMT1	HGNC	HGNC:16021	protein_coding	YES	CCDS33526.1	ENSP00000303584		B2RA97	UPI000003B020	NM_013240.5	tolerated(0.33)		5/6		Gene3D:3.40.50.150,hmmpanther:PTHR18895,hmmpanther:PTHR18895:SF71,Superfamily_domains:SSF53335,TIGRFAM_domain:TIGR00537																	MODERATE	1	SNV	1			1										PASS		rs1235274550	.												C	3	2	51	28878258	28878258	G	C	1	0	0	0	0	1	0	0	0	10118	991	35	4		4	N6AMT1	21	28878258	Missense_Mutation	SNP	G	C3N-00549_TP	11316789	28878258	17831725	427	16617											
KRTAP6-3	0	.	GRCh38	chr21	30592659	30592659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggctccttctgtggctgtGgctacagaggcctggactgt	5	12	14	10	0	1	1	0	0	1	1	2	2	2	2	2	5	1	3	2	5	1	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.214G>A	p.Gly72Ser	p.G72S	ENST00000391624	1/1	226	175	51	362	362	0	strelka-varscan-mutect	KRTAP6-3,missense_variant,p.Gly72Ser,ENST00000391624,NM_181605.3;KRTAP22-2,upstream_gene_variant,,ENST00000382830,NM_001164434.1;	A	ENST00000391624	Transcript	missense_variant	220/636	214/333	72/110	G/S	Ggc/Agc		1		1	KRTAP6-3	HGNC	HGNC:18933	protein_coding	YES	CCDS77622.1	ENSP00000375482	Q3LI67		UPI00003D4D73	NM_181605.3			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR31678,hmmpanther:PTHR31678:SF4																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	51	30592659	30592659	G	A	1	0	0	0	0	1	0	0	0	8466	1348	47	3		3	KRTAP6-3	21	30592659	Missense_Mutation	SNP	G	C3N-00549_TP	1714401	30592659	16117324	428	16618											
URB1	0	.	GRCh38	chr21	32334335	32334335	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccccacagcagcaccCtagagccagaaaagggaaaa	15	2	11	13	0	0	2	0	0	0	2	0	3	0	3	4	2	3	2	4	2	5	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.4686-1G>T		p.X1562_splice	ENST00000382751		64	23	41	87	87	0	strelka-varscan-mutect	URB1,splice_acceptor_variant,,ENST00000382751,NM_014825.2;URB1,splice_acceptor_variant,,ENST00000492603,;URB1,upstream_gene_variant,,ENST00000480196,;	A	ENST00000382751	Transcript	splice_acceptor_variant	-/10832	4686/6816	1562/2271				1		-1	URB1	HGNC	HGNC:17344	protein_coding	YES	CCDS46645.1	ENSP00000372199	O60287		UPI0000185F65	NM_014825.2				28/38																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	51	32334335	32334335	C	A	1	0	0	0	0	0	0	1	0	17554	695	24	2		2	URB1	21	32334335	Splice_Site	SNP	C	C3N-00549_TP	1741676	32334335	14375648	429	16619											
SON	0	.	GRCh38	chr21	33573361	33573361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgggagccgttttgatGagaaaaatgggctggagaga	13	8	17	3	1	0	3	0	2	0	2	0	8	0	6	1	4	1	2	1	4	3	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.6939G>T	p.Met2313Ile	p.M2313I	ENST00000356577	9/12	155	131	24	179	179	0	strelka-varscan-mutect	SON,missense_variant,p.Met2313Ile,ENST00000356577,NM_138927.2;SON,missense_variant,p.Met1308Ile,ENST00000436227,;SON,missense_variant,p.Met341Ile,ENST00000381692,NM_001291412.1;DONSON,downstream_gene_variant,,ENST00000453626,;DONSON,downstream_gene_variant,,ENST00000303071,NM_017613.3;DONSON,downstream_gene_variant,,ENST00000303113,;DONSON,downstream_gene_variant,,ENST00000437395,;DONSON,downstream_gene_variant,,ENST00000432378,;SON,non_coding_transcript_exon_variant,,ENST00000470533,;SON,non_coding_transcript_exon_variant,,ENST00000467616,;SON,non_coding_transcript_exon_variant,,ENST00000473102,;SON,non_coding_transcript_exon_variant,,ENST00000484294,;SON,3_prime_UTR_variant,,ENST00000455528,;SON,3_prime_UTR_variant,,ENST00000457208,;DONSON,3_prime_UTR_variant,,ENST00000439593,;SON,non_coding_transcript_exon_variant,,ENST00000478183,;SON,non_coding_transcript_exon_variant,,ENST00000491794,;SON,non_coding_transcript_exon_variant,,ENST00000465834,;SON,non_coding_transcript_exon_variant,,ENST00000477419,;DONSON,downstream_gene_variant,,ENST00000457359,;DONSON,downstream_gene_variant,,ENST00000417871,;DONSON,downstream_gene_variant,,ENST00000442660,;DONSON,downstream_gene_variant,,ENST00000444517,;DONSON,downstream_gene_variant,,ENST00000460557,;SON,downstream_gene_variant,,ENST00000429093,;SON,downstream_gene_variant,,ENST00000474355,;	T	ENST00000356577	Transcript	missense_variant	7414/8813	6939/7281	2313/2426	M/I	atG/atT		1		1	SON	HGNC	HGNC:11183	protein_coding	YES	CCDS13629.1	ENSP00000348984	P18583		UPI0000140BFD	NM_138927.2	deleterious_low_confidence(0.02)		9/12		Pfam_domain:PF01585,PROSITE_profiles:PS50174,hmmpanther:PTHR23106,hmmpanther:PTHR23106:SF13,SMART_domains:SM00443																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	51	33573361	33573361	G	T	1	0	0	0	0	1	0	0	0	15248	1290	45	2		2	SON	21	33573361	Missense_Mutation	SNP	G	C3N-00549_TP	1239026	33573361	13136622	430	16620											
PPIL2	0	.	GRCh38	chr22	21675074	21675074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcttccagaagctggacgGgaggtccctgatcaagctga	9	9	12	11	1	2	3	1	2	1	1	4	5	4	5	2	3	2	2	2	3	2	2	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.254G>T	p.Gly85Val	p.G85V	ENST00000626352	6/21	94	23	71	156	156	0	strelka-varscan-mutect	PPIL2,missense_variant,p.Gly85Val,ENST00000335025,NM_148175.2;PPIL2,missense_variant,p.Gly85Val,ENST00000406385,NM_014337.3;PPIL2,missense_variant,p.Gly85Val,ENST00000626352,NM_148176.2;PPIL2,missense_variant,p.Gly85Val,ENST00000398831,;PPIL2,missense_variant,p.Gly116Val,ENST00000458567,;PPIL2,non_coding_transcript_exon_variant,,ENST00000484439,;MIR130B,downstream_gene_variant,,ENST00000498589,;PPIL2,downstream_gene_variant,,ENST00000485930,;PPIL2,3_prime_UTR_variant,,ENST00000417788,;PPIL2,downstream_gene_variant,,ENST00000498109,;PPIL2,downstream_gene_variant,,ENST00000496819,;	T	ENST00000626352	Transcript	missense_variant	332/2625	254/1584	85/527	G/V	gGg/gTg		1		1	PPIL2	HGNC	HGNC:9261	protein_coding	YES	CCDS46670.1	ENSP00000486725	Q13356		UPI000002A7A2	NM_148176.2	tolerated(0.41)		6/21		Gene3D:3.30.40.10,PROSITE_profiles:PS51698,SMART_domains:SM00504,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		rs1033128986	.												T	3	4	51	21675074	21675074	G	T	1	0	0	0	0	1	0	0	0	12438	1232	43	2		2	PPIL2	22	21675074	Missense_Mutation	SNP	G	C3N-00549_TP		21675074	29143394	431	16621											
MXRA5	0	.	GRCh38	chrX	3310769	3310769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accacaccctcgggaaaagcCcataacaccctcggggtggg	11	4	11	15	2	0	0	0	0	0	0	2	1	0	1	4	4	2	0	4	4	3	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.7434G>T	p.Trp2478Cys	p.W2478C	ENST00000217939	7/7	114	23	91	120	120	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Trp2478Cys,ENST00000217939,NM_015419.3;	A	ENST00000217939	Transcript	missense_variant	7589/9793	7434/8487	2478/2828	W/C	tgG/tgT		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	deleterious(0)		7/7		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	51	3310769	3310769	C	A	1	0	0	0	0	1	0	0	0	10002	624	22	2		2	MXRA5	23	3310769	Missense_Mutation	SNP	C	C3N-00549_TP		3310769	152730126	432	16622											
MAGEB6	0	.	GRCh38	chrX	26193939	26193939	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgggtccccaggccacTgcagagaagcaggaagagtc	11	4	13	13	1	1	2	1	0	0	2	3	4	2	3	3	3	2	2	3	3	2	0	novel		C3N-00549_TP	C3N-00549_NB	T	T																c.93T>C	p.=	p.T31T	ENST00000379034	2/2	30	9	21	39	39	0	strelka-varscan-mutect	MAGEB6,synonymous_variant,p.=,ENST00000379034,NM_173523.2;	C	ENST00000379034	Transcript	synonymous_variant	242/1949	93/1224	31/407	T	acT/acC		1		1	MAGEB6	HGNC	HGNC:23796	protein_coding	YES	CCDS14217.1	ENSP00000368320	Q8N7X4		UPI00001413F4	NM_173523.2			2/2		hmmpanther:PTHR11736:SF80,hmmpanther:PTHR11736,Pfam_domain:PF12440,SMART_domains:SM01392																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	51	26193939	26193939	T	C	1	0	0	0	0	0	0	0	1	9096	1567	55	5		5	MAGEB6	23	26193939	Silent	SNP	T	C3N-00549_TP	22883170	26193939	129846956	433	16623											
CFAP47	0	.	GRCh38	chrX	35967754	35967754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgctcatgtgaagagcCagtgaaggatatgctattag	12	11	11	7	1	2	3	2	2	0	1	3	4	2	4	1	1	2	2	1	1	5	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.1736C>A	p.Pro579Gln	p.P579Q	ENST00000297866	10/16	184	49	135	215	214	1	strelka-varscan-mutect	CFAP47,missense_variant,p.Pro579Gln,ENST00000378653,NM_001304548.1;CFAP47,missense_variant,p.Pro579Gln,ENST00000297866,NM_152632.3;CFAP47,missense_variant,p.Pro579Gln,ENST00000493930,;	A	ENST00000297866	Transcript	missense_variant	1802/3608	1736/2931	579/976	P/Q	cCa/cAa		1		1	CFAP47	HGNC	HGNC:26708	protein_coding	YES	CCDS14237.2	ENSP00000297866	Q6ZTR5		UPI000022DD27	NM_152632.3	tolerated(0.29)		10/16		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF24																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	51	35967754	35967754	C	A	1	0	0	0	0	1	0	0	0	3022	594	21	2		2	CFAP47	23	35967754	Missense_Mutation	SNP	C	C3N-00549_TP	9773815	35967754	120073141	434	16624											
TRO	0	.	GRCh38	chrX	54930398	54930398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttggtggtggcctaggcaCcagtgctggcttcagtggtg	4	12	16	9	0	1	0	1	0	0	0	1	0	1	0	2	6	1	3	2	6	1	3	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.3674C>A	p.Thr1225Asn	p.T1225N	ENST00000173898	12/13	140	28	112	155	155	0	strelka-varscan-mutect	TRO,missense_variant,p.Thr1225Asn,ENST00000173898,NM_001039705.2;TRO,missense_variant,p.Thr756Asn,ENST00000420798,NM_001271183.1;TRO,missense_variant,p.Thr828Asn,ENST00000375041,NM_001271184.1;TRO,intron_variant,,ENST00000319167,NM_016157.3;TRO,intron_variant,,ENST00000375022,NM_177556.2;TRO,intron_variant,,ENST00000622017,;TRO,intron_variant,,ENST00000399736,NM_177557.2;PFKFB1,downstream_gene_variant,,ENST00000375006,NM_001271804.1,NM_002625.3;PFKFB1,downstream_gene_variant,,ENST00000545676,NM_001271805.1;PFKFB1,downstream_gene_variant,,ENST00000614686,;PFKFB1,downstream_gene_variant,,ENST00000374992,;TRO,downstream_gene_variant,,ENST00000431115,;SNORA11,downstream_gene_variant,,ENST00000408823,;TRO,intron_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000484031,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,intron_variant,,ENST00000445561,;TRO,downstream_gene_variant,,ENST00000469211,;	A	ENST00000173898	Transcript	missense_variant	3786/4647	3674/4296	1225/1431	T/N	aCc/aAc		1		1	TRO	HGNC	HGNC:12326	protein_coding	YES	CCDS43959.1	ENSP00000173898	Q12816		UPI000021208F	NM_001039705.2	tolerated_low_confidence(0.14)		12/13		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	51	54930398	54930398	C	A	1	0	0	0	0	1	0	0	0	17079	507	18	2		2	TRO	23	54930398	Missense_Mutation	SNP	C	C3N-00549_TP	18962644	54930398	101110497	435	16625											
GLRA4	0	.	GRCh38	chrX	103724220	103724220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcatggagggatcgaggtCcagagagtcatcaggatatt	12	8	14	7	1	2	1	2	0	0	1	4	6	3	4	1	4	1	1	1	4	1	2	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.352G>T	p.Asp118Tyr	p.D118Y	ENST00000372617	4/9	167	32	135	170	170	0	strelka-varscan-mutect	GLRA4,missense_variant,p.Asp118Tyr,ENST00000372617,NM_001024452.2;GLRA4,upstream_gene_variant,,ENST00000469567,;GLRA4,3_prime_UTR_variant,,ENST00000436213,;GLRA4,non_coding_transcript_exon_variant,,ENST00000480725,;	A	ENST00000372617	Transcript	missense_variant	773/1795	352/1254	118/417	D/Y	Gac/Tac		1		-1	GLRA4	HGNC	HGNC:31715	protein_coding	YES	CCDS43980.2	ENSP00000361700	Q5JXX5		UPI000188140C	NM_001024452.2	deleterious(0)		4/9		Low_complexity_(Seg):seg,hmmpanther:PTHR18945:SF211,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932,Prints_domain:PR01673																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	51	103724220	103724220	C	A	1	0	0	0	0	1	0	0	0	6336	855	30	2		2	GLRA4	23	103724220	Missense_Mutation	SNP	C	C3N-00549_TP	48793822	103724220	52316675	436	16626											
SLC25A53	0	.	GRCh38	chrX	104105022	104105022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggagggtagattcccCggtagaagtattgaggacct	12	8	15	6	1	0	4	0	1	0	3	1	7	1	6	3	4	0	3	3	4	5	5			C3N-00549_TP	C3N-00549_NB	C	C																c.236G>T	p.Arg79Leu	p.R79L	ENST00000594199	2/2	96	19	77	90	90	0	strelka-varscan-mutect	SLC25A53,missense_variant,p.Arg79Leu,ENST00000594199,NM_001012755.4;	A	ENST00000594199	Transcript	missense_variant	417/6225	236/924	79/307	R/L	cGg/cTg	COSM4759620	1		-1	SLC25A53	HGNC	HGNC:31894	protein_coding	YES	CCDS35363.1	ENSP00000468980	Q5H9E4		UPI0000140AFF	NM_001012755.4	deleterious(0)		2/2		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF235											1						MODERATE	1	SNV	1		1	1										PASS		rs1300891685	.												A	3	1	51	104105022	104105022	C	A	1	0	0	0	0	1	0	0	0	14782	652	23	1		1	SLC25A53	23	104105022	Missense_Mutation	SNP	C	C3N-00549_TP	380802	104105022	51935873	437	16627											
RBMX2	0	.	GRCh38	chrX	130412391	130412391	+	Frame_Shift_Del	DEL	A	A	-																															aaaaaagaaaaaaaagaaagAaaaagagaaagccgaccggg																								novel		C3N-00549_TP	C3N-00549_NB	A	A																c.516delA	p.Glu173ArgfsTer22	p.E173Rfs*22	ENST00000305536	6/6	56	13	43	40	40	0	sindel-varindel-pindel	RBMX2,frameshift_variant,p.Glu173ArgfsTer22,ENST00000305536,NM_016024.2;RBMX2,non_coding_transcript_exon_variant,,ENST00000487274,;RBMX2,downstream_gene_variant,,ENST00000469953,;	-	ENST00000305536	Transcript	frameshift_variant	576/1528	512/969	171/322	E/X	gAa/ga		1		1	RBMX2	HGNC	HGNC:24282	protein_coding	YES	CCDS43993.1	ENSP00000339090	Q9Y388		UPI00000704DB	NM_016024.2			6/6		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF67,Low_complexity_(Seg):seg																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	51	130412391	130412391	A	-	1	0	1	0	1	0	0	0	0	13318	246	9	0		0	RBMX2	23	130412391	Frame_Shift_Del	DEL	A	C3N-00549_TP	26307369	130412391	25628504	438	16628											
IGSF1	0	.	GRCh38	chrX	131283004	131283004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagattttcaggacatCactaaggagtgaacctctat	13	10	7	11	0	3	2	2	1	1	1	3	4	3	4	2	2	1	0	2	2	3	4	rs144062892		C3N-00549_TP	C3N-00549_NB	C	C																c.928G>T	p.Asp310Tyr	p.D310Y	ENST00000370903	6/20	65	16	49	50	50	0	strelka-varscan-mutect	IGSF1,missense_variant,p.Asp301Tyr,ENST00000370904,;IGSF1,missense_variant,p.Asp310Tyr,ENST00000370903,NM_001170961.1;IGSF1,missense_variant,p.Asp301Tyr,ENST00000370910,NM_001170962.1;IGSF1,missense_variant,p.Asp310Tyr,ENST00000361420,NM_001555.4;IGSF1,downstream_gene_variant,,ENST00000370901,NM_205833.3;IGSF1,downstream_gene_variant,,ENST00000370900,NM_001170963.1;IGSF1,upstream_gene_variant,,ENST00000469836,;	A	ENST00000370903	Transcript	missense_variant	1211/4594	928/4026	310/1341	D/Y	Gat/Tat	rs144062892	1		-1	IGSF1	HGNC	HGNC:5948	protein_coding	YES	CCDS55491.1	ENSP00000359940	Q8N6C5		UPI0000E0C769	NM_001170961.1	deleterious(0)		6/20		Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs144062892	.												A	3	1	51	131283004	131283004	C	A	1	0	0	0	0	1	0	0	0	7503	826	29	2		2	IGSF1	23	131283004	Missense_Mutation	SNP	C	C3N-00549_TP	870613	131283004	24757891	439	16629											
SLITRK2	0	.	GRCh38	chrX	145823333	145823333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggctccgaaagccagccGgccgcccaaaatgagaaatc	13	3	11	14	3	0	1	0	1	0	1	2	3	1	1	5	2	2	1	5	2	4	0	rs373498501		C3N-00549_TP	C3N-00549_NB	G	G																c.908G>A	p.Arg303Gln	p.R303Q	ENST00000370490	1/1	133	20	113	120	119	1	strelka-varscan-mutect	SLITRK2,missense_variant,p.Arg303Gln,ENST00000370490,NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2;SLITRK2,missense_variant,p.Arg303Gln,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,NM_004709.2;	A	ENST00000370490	Transcript	missense_variant	5163/7672	908/2538	303/845	R/Q	cGg/cAg	rs373498501,COSM4107245	1		1	SLITRK2	HGNC	HGNC:13449	protein_coding	YES	CCDS14680.1	ENSP00000359521	Q9H156		UPI000004E64B	NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2	deleterious(0.02)		1/1													0,1						MODERATE	1	SNV			0,1	1										PASS		rs373498501	.												A	3	1	51	145823333	145823333	G	A	1	0	0	0	0	1	0	0	0	15034	1116	39	1		1	SLITRK2	23	145823333	Missense_Mutation	SNP	G	C3N-00549_TP	14540329	145823333	10217562	440	16630											
PNMA5	0	.	GRCh38	chrX	152991230	152991230	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaggctgcaacatcccagGgctctggccacatctgtcat	8	8	12	13	0	3	0	1	0	2	0	4	1	4	1	2	4	2	3	2	4	1	0	novel		C3N-00549_TP	C3N-00549_NB	G	G																c.369C>G	p.=	p.A123A	ENST00000439251	2/2	32	4	28	35	35	0	strelka-varscan-mutect	PNMA5,synonymous_variant,p.=,ENST00000439251,NM_001103150.1;PNMA5,synonymous_variant,p.=,ENST00000535214,NM_001184924.1;PNMA5,synonymous_variant,p.=,ENST00000361887,NM_052926.2;PNMA5,synonymous_variant,p.=,ENST00000452693,NM_001103151.1;PNMA5,synonymous_variant,p.=,ENST00000437210,;	C	ENST00000439251	Transcript	synonymous_variant	808/3213	369/1347	123/448	A	gcC/gcG		1		-1	PNMA5	HGNC	HGNC:18743	protein_coding	YES	CCDS14718.1	ENSP00000388850	Q96PV4		UPI0000070F7D	NM_001103150.1			2/2		Pfam_domain:PF14893,hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF4																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	51	152991230	152991230	G	C	1	0	0	0	0	0	0	0	1	12263	1219	43	4		4	PNMA5	23	152991230	Silent	SNP	G	C3N-00549_TP	7167897	152991230	3049665	441	16631											
ATP2B3	0	.	GRCh38	chrX	153541901	153541901	+	Frame_Shift_Del	DEL	G	G	-																															cccgtggctgcgctggtggtGggggacattgcccaggtcaa																								novel		C3N-00549_TP	C3N-00549_NB	G	G																c.643delG	p.Asp215ThrfsTer30	p.D215Tfs*30	ENST00000263519	3/20	95	12	83	60	60	0	sindel-varindel-pindel	ATP2B3,frameshift_variant,p.Asp215ThrfsTer30,ENST00000370186,;ATP2B3,frameshift_variant,p.Asp215ThrfsTer30,ENST00000263519,NM_001001344.2;ATP2B3,frameshift_variant,p.Asp215ThrfsTer30,ENST00000349466,;ATP2B3,frameshift_variant,p.Asp215ThrfsTer30,ENST00000359149,NM_021949.3;ATP2B3,frameshift_variant,p.Asp215ThrfsTer30,ENST00000393842,;	-	ENST00000263519	Transcript	frameshift_variant	765/6420	639/3663	213/1220	V/X	gtG/gt		1		1	ATP2B3	HGNC	HGNC:816	protein_coding	YES	CCDS35440.1	ENSP00000263519	Q16720		UPI00001AE881	NM_001001344.2			3/20		Low_complexity_(Seg):seg,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF284,TIGRFAM_domain:TIGR01494,Pfam_domain:PF00122,Superfamily_domains:0049471																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	51	153541901	153541901	G	-	1	0	1	0	1	0	0	0	0	1294	1335	47	0		0	ATP2B3	23	153541901	Frame_Shift_Del	DEL	G	C3N-00549_TP	550671	153541901	2498994	442	16632											
AVPR2	0	.	GRCh38	chrX	153905681	153905681	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgagcaatggcctggtgCtggcggccctagctcggcgg	4	7	16	14	3	0	1	0	1	0	0	1	1	0	1	3	6	3	3	3	6	2	1	novel		C3N-00549_TP	C3N-00549_NB	C	C																c.175C>G	p.Leu59Val	p.L59V	ENST00000358927	3/4	164	29	135	120	120	0	strelka-varscan-mutect	AVPR2,missense_variant,p.Leu59Val,ENST00000358927,;AVPR2,missense_variant,p.Leu59Val,ENST00000337474,NM_000054.4;AVPR2,missense_variant,p.Leu59Val,ENST00000370049,NM_001146151.1;AVPR2,missense_variant,p.Leu59Val,ENST00000430697,;ARHGAP4,downstream_gene_variant,,ENST00000370028,NM_001164741.1;ARHGAP4,downstream_gene_variant,,ENST00000350060,NM_001666.4;ARHGAP4,downstream_gene_variant,,ENST00000370016,;ARHGAP4,downstream_gene_variant,,ENST00000393721,;ARHGAP4,downstream_gene_variant,,ENST00000442172,;ARHGAP4,downstream_gene_variant,,ENST00000454164,;ARHGAP4,downstream_gene_variant,,ENST00000467421,;AVPR2,intron_variant,,ENST00000434679,;L1CAM,intron_variant,,ENST00000464967,;ARHGAP4,downstream_gene_variant,,ENST00000404127,;ARHGAP4,downstream_gene_variant,,ENST00000470209,;ARHGAP4,downstream_gene_variant,,ENST00000420383,;ARHGAP4,downstream_gene_variant,,ENST00000494302,;ARHGAP4,downstream_gene_variant,,ENST00000494397,;ARHGAP4,downstream_gene_variant,,ENST00000466928,;ARHGAP4,downstream_gene_variant,,ENST00000461739,;	G	ENST00000358927	Transcript	missense_variant	384/1763	175/1116	59/371	L/V	Ctg/Gtg		1		1	AVPR2	HGNC	HGNC:897	protein_coding	YES	CCDS14735.1	ENSP00000351805	P30518		UPI000005043B		deleterious(0.02)		3/4		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF20,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	51	153905681	153905681	C	G	1	0	0	0	0	1	0	0	0	1389	796	28	4		4	AVPR2	23	153905681	Missense_Mutation	SNP	C	C3N-00549_TP	363780	153905681	2135214	443	16633											
RGL1	0	.	GRCh38	chr1	183884796	183884796	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagggataagaaggaaaacaAacatttggctcctacgatcc	17	7	9	8	1	0	1	0	0	0	1	2	4	2	3	2	3	3	1	2	3	7	3	novel		C3N-00550_TP	C3N-00550_NB	A	A																c.914A>C	p.Lys305Thr	p.K305T	ENST00000304685	8/19	328	295	33	394	394	0	strelka-varscan-mutect	RGL1,missense_variant,p.Lys305Thr,ENST00000304685,NM_001297669.1,NM_015149.4,NM_001297670.1;RGL1,missense_variant,p.Lys270Thr,ENST00000360851,NM_001297671.1,NM_001297672.1;	C	ENST00000304685	Transcript	missense_variant	1363/5100	914/2412	305/803	K/T	aAa/aCa		1		1	RGL1	HGNC	HGNC:30281	protein_coding	YES	CCDS1359.1	ENSP00000303192	Q9NZL6		UPI000002B24C	NM_001297669.1,NM_015149.4,NM_001297670.1	deleterious(0.01)		8/19		PROSITE_profiles:PS50009,hmmpanther:PTHR23113:SF199,hmmpanther:PTHR23113,Gene3D:2ii0A02,Pfam_domain:PF00617,SMART_domains:SM00147,Superfamily_domains:0041591																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	52	183884796	183884796	A	C	1	0	0	0	0	1	0	0	0	13449	14	1	5		5	RGL1	1	183884796	Missense_Mutation	SNP	A	C3N-00550_TP		183884796	65071626	1	16634											
CYP1B1	0	.	GRCh38	chr2	38074349	38074349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcccagaggctttacctgGtgaagaggaggagcagccac	10	6	13	12	0	0	3	0	1	0	2	1	5	1	5	4	4	3	2	4	4	2	2			C3N-00550_TP	C3N-00550_NB	G	G																c.1040C>A	p.Thr347Asn	p.T347N	ENST00000610745	2/3	182	133	49	266	265	1	strelka-varscan	CYP1B1,missense_variant,p.Thr347Asn,ENST00000610745,NM_000104.3;CYP1B1,missense_variant,p.Thr347Asn,ENST00000614273,;CYP1B1,intron_variant,,ENST00000494864,;CYP1B1,downstream_gene_variant,,ENST00000490576,;CYP1B1-AS1,non_coding_transcript_exon_variant,,ENST00000628232,;CYP1B1-AS1,non_coding_transcript_exon_variant,,ENST00000629719,;CYP1B1-AS1,upstream_gene_variant,,ENST00000626582,;CYP1B1-AS1,upstream_gene_variant,,ENST00000629547,;CYP1B1-AS1,upstream_gene_variant,,ENST00000630542,;CYP1B1-AS1,upstream_gene_variant,,ENST00000627992,;CYP1B1-AS1,upstream_gene_variant,,ENST00000628580,;CYP1B1-AS1,upstream_gene_variant,,ENST00000629439,;CYP1B1-AS1,upstream_gene_variant,,ENST00000628135,;CYP1B1-AS1,upstream_gene_variant,,ENST00000589303,;CYP1B1-AS1,upstream_gene_variant,,ENST00000629773,;CYP1B1-AS1,upstream_gene_variant,,ENST00000620177,;CYP1B1,non_coding_transcript_exon_variant,,ENST00000613082,;CYP1B1,upstream_gene_variant,,ENST00000492443,;CYP1B1,upstream_gene_variant,,ENST00000491456,;	T	ENST00000610745	Transcript	missense_variant	1443/5250	1040/1632	347/543	T/N	aCc/aAc	COSM5569795	1		-1	CYP1B1	HGNC	HGNC:2597	protein_coding	YES	CCDS1793.1	ENSP00000478561	Q16678		UPI0000169C18	NM_000104.3	deleterious(0)		2/3		Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00385,Prints_domain:PR00463,hmmpanther:PTHR24299,hmmpanther:PTHR24299:SF0,Low_complexity_(Seg):seg,Superfamily_domains:SSF48264											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	52	38074349	38074349	G	T	1	0	0	0	0	1	0	0	0	3954	1275	44	2		2	CYP1B1	2	38074349	Missense_Mutation	SNP	G	C3N-00550_TP		38074349	204119180	2	16635											
NRXN1	0	.	GRCh38	chr2	51027530	51027530	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtccttgccgcggaagccGgttcgcgagcagtcgcacac	7	6	13	15	6	0	0	0	0	0	0	3	2	1	1	3	2	3	3	3	2	1	2	rs202043138		C3N-00550_TP	C3N-00550_NB	G	G																c.744C>T	p.=	p.T248T	ENST00000404971	2/24	26	22	4	31	31	0	strelka-varscan	NRXN1,synonymous_variant,p.=,ENST00000406316,NM_004801.4;NRXN1,synonymous_variant,p.=,ENST00000625672,;NRXN1,synonymous_variant,p.=,ENST00000404971,NM_001135659.1;NRXN1,synonymous_variant,p.=,ENST00000401669,;NRXN1,synonymous_variant,p.=,ENST00000405472,;NRXN1,synonymous_variant,p.=,ENST00000405581,;NRXN1,synonymous_variant,p.=,ENST00000630543,;NRXN1,synonymous_variant,p.=,ENST00000637511,;NRXN1,synonymous_variant,p.=,ENST00000628515,;NRXN1,synonymous_variant,p.=,ENST00000636066,;NRXN1,synonymous_variant,p.=,ENST00000626899,;NRXN1,synonymous_variant,p.=,ENST00000627198,;NRXN1,synonymous_variant,p.=,ENST00000496792,;NRXN1,non_coding_transcript_exon_variant,,ENST00000637679,;NRXN1,downstream_gene_variant,,ENST00000635310,;NRXN1,downstream_gene_variant,,ENST00000636599,;NRXN1,downstream_gene_variant,,ENST00000638060,;NRXN1,downstream_gene_variant,,ENST00000637006,;	A	ENST00000404971	Transcript	synonymous_variant	2084/7578	744/4644	248/1547	T	acC/acT	rs202043138,COSM4507392,COSM4507393,COSM4507394,COSM4507395	1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1			2/24		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,SMART_domains:SM00181											0,1,1,1,1						LOW	1	SNV	1		0,1,1,1,1	1										PASS		.	.												A	2	1	52	51027530	51027530	G	A	1	0	0	0	0	0	0	0	1	10724	1103	39	1		1	NRXN1	2	51027530	Silent	SNP	G	C3N-00550_TP	12953181	51027530	191165999	3	16636											
CTNNA2	0	.	GRCh38	chr2	80619092	80619092	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcggaaatcagacaggagTtcagagcactttcactacct	12	10	8	11	1	4	2	3	0	1	2	5	4	4	4	1	2	2	2	1	2	2	3	novel		C3N-00550_TP	C3N-00550_NB	T	T																c.2438T>C	p.Val813Ala	p.V813A	ENST00000402739	17/18	42	31	11	40	40	0	strelka-varscan	CTNNA2,missense_variant,p.Val813Ala,ENST00000402739,NM_001282597.2;CTNNA2,missense_variant,p.Val429Ala,ENST00000361291,NM_001320810.1;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000629316,NM_001164883.1;CTNNA2,intron_variant,,ENST00000343114,NM_001282599.1;CTNNA2,intron_variant,,ENST00000541047,NM_001282600.1;CTNNA2,intron_variant,,ENST00000540488,;AC008067.2,upstream_gene_variant,,ENST00000430876,;AC008067.2,upstream_gene_variant,,ENST00000609950,;	C	ENST00000402739	Transcript	missense_variant	2443/3684	2438/2862	813/953	V/A	gTt/gCt		1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2	tolerated_low_confidence(0.8)		17/18		Pfam_domain:PF01044																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	52	80619092	80619092	T	C	1	0	0	0	0	1	0	0	0	3822	1725	60	5		5	CTNNA2	2	80619092	Missense_Mutation	SNP	T	C3N-00550_TP	29591562	80619092	161574437	4	16637											
TUBA3E	0	.	GRCh38	chr2	130191836	130191836	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccacaccctcccctcagtAtgcttcgccttcttcagcct	6	11	4	20	1	3	0	2	0	1	0	5	0	4	0	6	0	2	2	6	0	1	4	novel		C3N-00550_TP	C3N-00550_NB	A	A																c.1348T>C	p.Tyr450His	p.Y450H	ENST00000312988	5/5	54	44	10	85	84	1	strelka-varscan	TUBA3E,missense_variant,p.Tyr450His,ENST00000312988,NM_207312.2;MZT2B,downstream_gene_variant,,ENST00000281871,NM_025029.3;MZT2B,downstream_gene_variant,,ENST00000409255,;MZT2B,downstream_gene_variant,,ENST00000425361,;MZT2B,downstream_gene_variant,,ENST00000457492,;MZT2B,downstream_gene_variant,,ENST00000455239,;MZT2B,downstream_gene_variant,,ENST00000491178,;MZT2B,downstream_gene_variant,,ENST00000480182,;	G	ENST00000312988	Transcript	missense_variant	1449/1542	1348/1353	450/450	Y/H	Tac/Cac		1		-1	TUBA3E	HGNC	HGNC:20765	protein_coding	YES	CCDS2158.1	ENSP00000318197	Q6PEY2		UPI00001BE8EB	NM_207312.2	deleterious_low_confidence(0)		5/5		hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF94																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	52	130191836	130191836	A	G	1	0	0	0	0	1	0	0	0	17258	449	16	5		5	TUBA3E	2	130191836	Missense_Mutation	SNP	A	C3N-00550_TP	49572744	130191836	112001693	5	16638											
CCDC150	0	.	GRCh38	chr2	196729302	196729302	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaatactagaaagtaacaAggagaaaataaagaatcaaa	27	5	6	3	0	1	3	1	0	0	3	1	4	1	3	0	1	2	1	0	1	13	4	novel		C3N-00550_TP	C3N-00550_NB	A	A																c.2666A>G	p.Lys889Arg	p.K889R	ENST00000389175	23/28	288	267	21	331	331	0	strelka-varscan-mutect	CCDC150,missense_variant,p.Lys889Arg,ENST00000389175,NM_001080539.1;CCDC150,missense_variant,p.Lys376Arg,ENST00000409270,;CCDC150,non_coding_transcript_exon_variant,,ENST00000487663,;CCDC150,non_coding_transcript_exon_variant,,ENST00000494389,;CCDC150,upstream_gene_variant,,ENST00000461243,;CCDC150,upstream_gene_variant,,ENST00000483877,;CCDC150,missense_variant,p.Lys376Arg,ENST00000448409,;CCDC150,3_prime_UTR_variant,,ENST00000431807,;CCDC150,3_prime_UTR_variant,,ENST00000424427,;CCDC150,downstream_gene_variant,,ENST00000463826,;	G	ENST00000389175	Transcript	missense_variant	2801/3685	2666/3306	889/1101	K/R	aAg/aGg		1		1	CCDC150	HGNC	HGNC:26834	protein_coding	YES	CCDS46478.1	ENSP00000373827	Q8NCX0		UPI0000DD7A7C	NM_001080539.1	tolerated(0.06)		23/28		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR35352																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	52	196729302	196729302	A	G	1	0	0	0	0	1	0	0	0	2471	72	3	5		5	CCDC150	2	196729302	Missense_Mutation	SNP	A	C3N-00550_TP	66537466	196729302	45464227	6	16639											
SF3B1	0	.	GRCh38	chr2	197410004	197410004	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taaggaaggagtatgcccagGggtcttaaaaaagcaaaaaa	19	6	11	5	0	1	0	0	0	1	0	1	2	1	2	1	4	2	2	1	4	9	3	novel		C3N-00550_TP	C3N-00550_NB	G	G																c.670C>G	p.Pro224Ala	p.P224A	ENST00000335508	7/25	123	114	9	158	157	1	strelka-varscan-mutect	SF3B1,missense_variant,p.Pro224Ala,ENST00000335508,NM_012433.2;SF3B1,non_coding_transcript_exon_variant,,ENST00000470268,;SF3B1,upstream_gene_variant,,ENST00000468925,;	C	ENST00000335508	Transcript	missense_variant	762/6526	670/3915	224/1304	P/A	Cct/Gct		1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	tolerated(0.18)		7/25		hmmpanther:PTHR12097																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	52	197410004	197410004	G	C	1	0	0	0	0	1	0	0	0	14428	1246	43	4		4	SF3B1	2	197410004	Missense_Mutation	SNP	G	C3N-00550_TP	680702	197410004	44783525	7	16640											
ULK4	0	.	GRCh38	chr3	41800140	41800140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttcatcttaccgatactgCtgttatcctaagagaatcag	11	13	7	10	1	3	1	2	0	1	1	4	3	4	1	2	0	3	3	2	0	5	5	novel		C3N-00550_TP	C3N-00550_NB	C	C																c.2002G>T	p.Ala668Ser	p.A668S	ENST00000301831	20/37	77	63	14	128	127	1	strelka-varscan-mutect	ULK4,missense_variant,p.Ala668Ser,ENST00000301831,NM_017886.2;ULK4,non_coding_transcript_exon_variant,,ENST00000460406,;	A	ENST00000301831	Transcript	missense_variant	2465/4613	2002/3828	668/1275	A/S	Gca/Tca		1		-1	ULK4	HGNC	HGNC:15784	protein_coding	YES	CCDS43071.1	ENSP00000301831	Q96C45		UPI0000E8267C	NM_017886.2	deleterious(0.03)		20/37		Gene3D:1.25.10.10,hmmpanther:PTHR22983,hmmpanther:PTHR22983:SF15,Superfamily_domains:SSF48371																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	52	41800140	41800140	C	A	1	0	0	0	0	1	0	0	0	17501	797	28	2		2	ULK4	3	41800140	Missense_Mutation	SNP	C	C3N-00550_TP		41800140	156495419	8	16641											
GPX1	0	.	GRCh38	chr3	49358255	49358255	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgggccgccgccgccgcCgccgctagccgagcagcaca	6	2	14	19	7	0	0	0	0	0	0	0	2	0	0	7	1	3	3	7	1	1	1	rs754217927		C3N-00550_TP	C3N-00550_NB	C	C																c.24G>A	p.=	p.A8A	ENST00000419783	1/2	49	41	8	56	55	1	varscan-mutect	GPX1,synonymous_variant,p.=,ENST00000419783,NM_000581.2;GPX1,synonymous_variant,p.=,ENST00000419349,NM_201397.1;GPX1,synonymous_variant,p.=,ENST00000620890,;RHOA,downstream_gene_variant,,ENST00000418115,NM_001664.2;RHOA,downstream_gene_variant,,ENST00000422781,;RHOA,downstream_gene_variant,,ENST00000454011,;RHOA,downstream_gene_variant,,ENST00000445425,;GPX1,non_coding_transcript_exon_variant,,ENST00000496791,;	T	ENST00000419783	Transcript	synonymous_variant	346/1146	24/612	8/203	A	gcG/gcA	rs754217927	1		-1	GPX1	HGNC	HGNC:4553	protein_coding	YES	CCDS43091.1	ENSP00000407375	P07203		UPI00001B07C3	NM_000581.2			1/2		PIRSF_domain:PIRSF000303,PROSITE_profiles:PS51355,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF41,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs754217927	.												T	2	4	52	49358255	49358255	C	T	1	0	0	0	0	0	0	0	1	6618	639	23	1		1	GPX1	3	49358255	Silent	SNP	C	C3N-00550_TP	7558115	49358255	148937304	9	16642											
DNAJC13	0	.	GRCh38	chr3	132453495	132453495	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagtccaaaaaatatcaccTagacattcggtaagacccat	16	9	6	10	1	1	2	1	0	0	2	3	2	2	2	3	1	0	2	3	1	7	5	novel		C3N-00550_TP	C3N-00550_NB	T	T																c.735T>G	p.=	p.P245P	ENST00000260818	7/56	179	143	36	227	227	0	strelka-varscan-mutect	DNAJC13,synonymous_variant,p.=,ENST00000260818,NM_015268.3;DNAJC13,non_coding_transcript_exon_variant,,ENST00000486798,;DNAJC13,upstream_gene_variant,,ENST00000471925,;	G	ENST00000260818	Transcript	synonymous_variant	983/7730	735/6732	245/2243	P	ccT/ccG		1		1	DNAJC13	HGNC	HGNC:30343	protein_coding	YES	CCDS33857.1	ENSP00000260818	O75165		UPI000022C1FD	NM_015268.3			7/56																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	52	132453495	132453495	T	G	1	0	0	0	0	0	0	0	1	4446	1509	53	5		5	DNAJC13	3	132453495	Silent	SNP	T	C3N-00550_TP	83095240	132453495	65842064	10	16643											
GAK	0	.	GRCh38	chr4	877761	877761	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accaggatgggcttgctgtgGggtgtgatgggctcctccgc	4	10	17	10	1	0	1	0	1	0	0	2	2	2	2	3	5	1	3	3	5	0	1	novel		C3N-00550_TP	C3N-00550_NB	G	G																c.1710C>T	p.=	p.P570P	ENST00000314167	16/28	102	75	27	114	114	0	strelka-varscan-mutect	GAK,synonymous_variant,p.=,ENST00000314167,NM_005255.2;GAK,synonymous_variant,p.=,ENST00000511163,NM_001318134.1,NM_001286833.1;GAK,intron_variant,,ENST00000618573,;GAK,upstream_gene_variant,,ENST00000509566,;	A	ENST00000314167	Transcript	synonymous_variant	1821/4442	1710/3936	570/1311	P	ccC/ccT		1		-1	GAK	HGNC	HGNC:4113	protein_coding	YES	CCDS3340.1	ENSP00000314499	O14976		UPI000012B04A	NM_005255.2			16/28		hmmpanther:PTHR23172:SF34,hmmpanther:PTHR23172,Gene3D:3.90.190.10,SMART_domains:SM01326																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	52	877761	877761	G	A	1	0	0	0	0	0	0	0	1	6063	1219	43	3		3	GAK	4	877761	Silent	SNP	G	C3N-00550_TP		877761	189336794	11	16644											
VEGFC	0	.	GRCh38	chr4	176727779	176727786	+	Frame_Shift_Del	DEL	GTCTTGCT	GTCTTGCT	-																															aggaatgggcaatacccaccGtcttgctgaggtagctcgtg																								novel		C3N-00550_TP	C3N-00550_NB	GTCTTGCT	GTCTTGCT																c.544_551delAGCAAGAC	p.Ser182ValfsTer3	p.S182Vfs*3	ENST00000618562	3/7	69	48	21	99	99	0	sindel-varindel-pindel	VEGFC,frameshift_variant,p.Ser182ValfsTer3,ENST00000618562,NM_005429.4;VEGFC,splice_region_variant,,ENST00000507638,;	-	ENST00000618562	Transcript	frameshift_variant,splice_region_variant	960-967/2064	544-551/1260	182-184/419	SKT/X	AGCAAGACg/g		1		-1	VEGFC	HGNC	HGNC:12682	protein_coding	YES	CCDS43285.1	ENSP00000480043	P49767		UPI0000001C2A	NM_005429.4			3/7		PROSITE_profiles:PS50278,hmmpanther:PTHR12025:SF3,hmmpanther:PTHR12025,Pfam_domain:PF00341,Gene3D:2.10.90.10,SMART_domains:SM00141,Superfamily_domains:SSF57501																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	52	176727779	176727779	GTCTTGCT	-	1	0	1	0	1	0	0	0	0	17697	1159	40	0		0	VEGFC	4	176727779	Frame_Shift_Del	DEL	GTCTTGCT	C3N-00550_TP	175850018	176727779	13486776	12	16645											
ADGRV1	0	.	GRCh38	chr5	90675332	90675332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttccacatatcactgtggagGaggaagatggagaaatcagg	14	8	13	6	0	2	2	2	0	0	2	3	6	3	5	1	5	0	0	1	5	3	2			C3N-00550_TP	C3N-00550_NB	G	G																c.5200G>C	p.Glu1734Gln	p.E1734Q	ENST00000405460	24/90	277	254	23	316	316	0	strelka-varscan-mutect	ADGRV1,missense_variant,p.Glu1734Gln,ENST00000405460,NM_032119.3;ADGRV1,non_coding_transcript_exon_variant,,ENST00000450321,;	C	ENST00000405460	Transcript	missense_variant	5296/19338	5200/18921	1734/6306	E/Q	Gag/Cag	COSM3618589	1		1	ADGRV1	HGNC	HGNC:17416	protein_coding	YES	CCDS47246.1	ENSP00000384582	Q8WXG9		UPI00002127A7	NM_032119.3	deleterious(0)		24/90		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237,Superfamily_domains:SSF141072											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	52	90675332	90675332	G	C	1	0	0	0	0	1	0	0	0	379	1175	41	4		4	ADGRV1	5	90675332	Missense_Mutation	SNP	G	C3N-00550_TP		90675332	90862927	13	16646											
FABP6	0	.	GRCh38	chr5	160213812	160213812	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaatgaaacagacacataAaggaaaggtatggggtagaa	20	5	13	3	0	0	4	0	1	0	3	0	6	0	5	0	4	1	2	0	4	8	3	novel		C3N-00550_TP	C3N-00550_NB	A	A																c.128A>C	p.Lys43Thr	p.K43T	ENST00000393980	3/7	299	228	71	346	346	0	strelka-varscan-mutect	FABP6,missense_variant,p.Lys43Thr,ENST00000393980,NM_001130958.1,NM_001040442.1;FABP6,missense_variant,p.Lys29Thr,ENST00000523955,;	C	ENST00000393980	Transcript	missense_variant	274/756	128/534	43/177	K/T	aAa/aCa		1		1	FABP6	HGNC	HGNC:3561	protein_coding	YES	CCDS43393.1	ENSP00000377549	P51161		UPI000020C072	NM_001130958.1,NM_001040442.1	deleterious_low_confidence(0.01)		3/7																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	52	160213812	160213812	A	C	1	0	0	0	0	1	0	0	0	5233	14	1	5		5	FABP6	5	160213812	Missense_Mutation	SNP	A	C3N-00550_TP	69538480	160213812	21324447	14	16647											
RUNX2	0	.	GRCh38	chr6	45512303	45512303	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaccagtcttacccctcctAcctgagccagatgacgtccc	8	9	7	17	1	1	4	0	3	1	1	3	4	3	4	7	0	3	0	7	0	2	2	novel		C3N-00550_TP	C3N-00550_NB	A	A																c.917A>G	p.Tyr306Cys	p.Y306C	ENST00000371438	6/8	253	215	38	311	311	0	strelka-varscan-mutect	RUNX2,missense_variant,p.Tyr306Cys,ENST00000371438,NM_001024630.3;RUNX2,missense_variant,p.Tyr306Cys,ENST00000371432,NM_001015051.3;RUNX2,missense_variant,p.Tyr292Cys,ENST00000359524,;RUNX2,missense_variant,p.Tyr306Cys,ENST00000576263,;RUNX2,missense_variant,p.Tyr306Cys,ENST00000465038,;RUNX2,missense_variant,p.Tyr306Cys,ENST00000371436,;RUNX2,missense_variant,p.Tyr292Cys,ENST00000625924,NM_001278478.1;RUNX2,missense_variant,p.Tyr234Cys,ENST00000478660,;RUNX2,3_prime_UTR_variant,,ENST00000483377,;	G	ENST00000371438	Transcript	missense_variant	1275/5698	917/1566	306/521	Y/C	tAc/tGc		1		1	RUNX2	HGNC	HGNC:10472	protein_coding	YES	CCDS43467.2	ENSP00000360493	Q13950		UPI000013532F	NM_001024630.3	deleterious(0)		6/8		hmmpanther:PTHR11950:SF7,hmmpanther:PTHR11950,PIRSF_domain:PIRSF009374																	MODERATE	1	SNV	5			1										PASS		rs1199475592	.												G	3	3	52	45512303	45512303	A	G	1	0	0	0	0	1	0	0	0	14009	391	14	5		5	RUNX2	6	45512303	Missense_Mutation	SNP	A	C3N-00550_TP		45512303	125293676	15	16648											
CARD11	0	.	GRCh38	chr7	2937950	2937950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagctgcagcatgaccGtgttcatgcggtgcttgtac	6	11	11	13	2	1	1	1	1	0	0	2	1	2	1	3	1	6	6	3	1	1	3	rs746318779		C3N-00550_TP	C3N-00550_NB	G	G																c.1100C>A	p.Thr367Lys	p.T367K	ENST00000396946	8/25	210	175	35	217	216	1	strelka-varscan-mutect	CARD11,missense_variant,p.Thr367Lys,ENST00000396946,NM_001324281.1,NM_032415.5;	T	ENST00000396946	Transcript	missense_variant	1504/4366	1100/3465	367/1154	T/K	aCg/aAg	rs746318779	1		-1	CARD11	HGNC	HGNC:16393	protein_coding	YES	CCDS5336.2	ENSP00000380150	Q9BXL7	A0A024R854	UPI00003FED38	NM_001324281.1,NM_032415.5	deleterious(0.03)		8/25		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14559:SF4,hmmpanther:PTHR14559																	MODERATE	1	SNV	1			1										PASS		rs746318779	.												T	3	4	52	2937950	2937950	G	T	1	0	0	0	0	1	0	0	0	2340	1145	40	1		1	CARD11	7	2937950	Missense_Mutation	SNP	G	C3N-00550_TP		2937950	156408023	16	16649											
EGFR	0	.	GRCh38	chr7	55156599	55156599	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgctacgaatattaaacActtcaaaaactgcacctcca	18	9	3	11	1	1	0	1	0	0	0	2	1	2	0	2	0	5	2	2	0	8	4	novel		C3N-00550_TP	C3N-00550_NB	A	A																c.1073A>G	p.His358Arg	p.H358R	ENST00000275493	9/28	657	564	93	485	485	0	strelka-varscan-mutect	EGFR,missense_variant,p.His358Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.His313Arg,ENST00000454757,;EGFR,missense_variant,p.His313Arg,ENST00000455089,;EGFR,missense_variant,p.His358Arg,ENST00000344576,NM_201284.1;EGFR,missense_variant,p.His358Arg,ENST00000342916,NM_201282.1;EGFR,missense_variant,p.His358Arg,ENST00000420316,NM_201283.1;	G	ENST00000275493	Transcript	missense_variant	1250/9821	1073/3633	358/1210	H/R	cAc/cGc		1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	tolerated(0.37)		9/28		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Gene3D:3.80.20.20,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	52	55156599	55156599	A	G	1	0	0	0	0	1	0	0	0	4803	159	6	5		5	EGFR	7	55156599	Missense_Mutation	SNP	A	C3N-00550_TP	52218649	55156599	104189374	17	16650											
KCND2	0	.	GRCh38	chr7	120745798	120745798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatcacgagtttgtggacGaacaagtctttgaagaaagc	15	9	11	6	2	2	3	1	1	1	2	2	6	2	4	0	1	2	1	0	1	5	2			C3N-00550_TP	C3N-00550_NB	G	G																c.1486G>A	p.Glu496Lys	p.E496K	ENST00000331113	5/6	253	200	53	311	311	0	strelka-varscan-mutect	KCND2,missense_variant,p.Glu496Lys,ENST00000331113,NM_012281.2;KCND2,missense_variant,p.Glu82Lys,ENST00000425288,;RP4-797C5.2,downstream_gene_variant,,ENST00000450480,;KCND2,non_coding_transcript_exon_variant,,ENST00000473190,;	A	ENST00000331113	Transcript	missense_variant	2451/5331	1486/1893	496/630	E/K	Gaa/Aaa	COSM3632373	1		1	KCND2	HGNC	HGNC:6238	protein_coding	YES	CCDS5776.1	ENSP00000333496	Q9NZV8	A4D0V9	UPI0000073D37	NM_012281.2	tolerated_low_confidence(0.08)		5/6		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF159,Pfam_domain:PF11879											1						MODERATE	1	SNV	1		1	1										PASS		rs1044289793	.												A	3	1	52	120745798	120745798	G	A	1	0	0	0	0	1	0	0	0	7935	1059	37	1		1	KCND2	7	120745798	Missense_Mutation	SNP	G	C3N-00550_TP	65589199	120745798	38600175	18	16651											
PIP	0	.	GRCh38	chr7	143139541	143139541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcaaattgcagccgtcGttgatgttattcgggaatta	9	14	11	7	3	0	1	0	1	0	0	2	2	0	2	1	1	3	4	1	1	4	5	rs149269022		C3N-00550_TP	C3N-00550_NB	G	G																c.340G>T	p.Val114Phe	p.V114F	ENST00000291009	4/4	221	179	42	208	208	0	strelka-varscan-mutect	PIP,missense_variant,p.Val114Phe,ENST00000291009,NM_002652.2;	T	ENST00000291009	Transcript	missense_variant	380/585	340/441	114/146	V/F	Gtt/Ttt	rs149269022	1		1	PIP	HGNC	HGNC:8993	protein_coding	YES	CCDS34768.1	ENSP00000291009	P12273		UPI0000131B05	NM_002652.2	deleterious(0)		4/4		hmmpanther:PTHR15096:SF5,hmmpanther:PTHR15096,Pfam_domain:PF05326,PIRSF_domain:PIRSF002572,Superfamily_domains:SSF81296,PD021604																	MODERATE	1	SNV	1			1										PASS		rs149269022	.												T	3	4	52	143139541	143139541	G	T	1	0	0	0	0	1	0	0	0	12030	1145	40	1		1	PIP	7	143139541	Missense_Mutation	SNP	G	C3N-00550_TP	22393743	143139541	16206432	19	16652											
TNC	0	.	GRCh38	chr9	115090950	115090950	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggatgactttcttgaggacCccaccttcggtagcgagggc	7	9	13	12	3	1	2	0	2	1	0	2	5	1	4	3	4	1	1	3	4	1	4	rs779652011		C3N-00550_TP	C3N-00550_NB	C	C																c.69G>A	p.=	p.G23G	ENST00000350763	2/28	329	230	99	352	352	0	strelka-varscan-mutect	TNC,synonymous_variant,p.=,ENST00000350763,NM_002160.3;TNC,synonymous_variant,p.=,ENST00000535648,;TNC,synonymous_variant,p.=,ENST00000341037,;TNC,synonymous_variant,p.=,ENST00000423613,;TNC,synonymous_variant,p.=,ENST00000542877,;TNC,synonymous_variant,p.=,ENST00000537320,;TNC,synonymous_variant,p.=,ENST00000534839,;	T	ENST00000350763	Transcript	synonymous_variant	481/7641	69/6606	23/2201	G	ggG/ggA	rs779652011	1		-1	TNC	HGNC	HGNC:5318	protein_coding	YES	CCDS6811.1	ENSP00000265131	P24821		UPI000013D5BD	NM_002160.3			2/28		Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs779652011	.												T	2	4	52	115090950	115090950	C	T	1	0	0	0	0	0	0	0	1	16744	610	22	3		3	TNC	9	115090950	Silent	SNP	C	C3N-00550_TP		115090950	23303767	20	16653											
CCSER2	0	.	GRCh38	chr10	84373714	84373714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttgaactctctccatctGatagctctgatggaacatac	10	13	7	11	1	3	3	0	3	3	0	5	4	4	4	1	1	4	2	1	1	4	3	novel		C3N-00550_TP	C3N-00550_NB	G	G																c.1513G>T	p.Asp505Tyr	p.D505Y	ENST00000372088	3/10	274	249	25	355	355	0	strelka-varscan-mutect	CCSER2,missense_variant,p.Asp505Tyr,ENST00000224756,NM_018999.3;CCSER2,missense_variant,p.Asp505Tyr,ENST00000372088,NM_001284240.1;CCSER2,missense_variant,p.Asp505Tyr,ENST00000359979,NM_001284241.1;	T	ENST00000372088	Transcript	missense_variant	1772/7657	1513/3144	505/1047	D/Y	Gat/Tat		1		1	CCSER2	HGNC	HGNC:29197	protein_coding	YES	CCDS60582.1	ENSP00000361160	Q9H7U1		UPI00001F92C7	NM_001284240.1	deleterious(0)		3/10		Low_complexity_(Seg):seg,hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF2																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	52	84373714	84373714	G	T	1	0	0	0	0	1	0	0	0	2653	1290	45	2		2	CCSER2	10	84373714	Missense_Mutation	SNP	G	C3N-00550_TP		84373714	49423708	21	16654											
NLRP14	0	.	GRCh38	chr11	7071178	7071178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttgttttctcaggttgtGcaaagaggcatttgatgagg	8	14	12	7	0	1	3	1	2	1	1	2	3	1	3	1	3	1	4	1	3	1	5	novel		C3N-00550_TP	C3N-00550_NB	G	G																c.3152G>A	p.Cys1051Tyr	p.C1051Y	ENST00000299481	12/12	445	390	55	427	426	1	strelka-varscan-mutect	NLRP14,missense_variant,p.Cys1051Tyr,ENST00000299481,NM_176822.3;	A	ENST00000299481	Transcript	missense_variant	3498/3628	3152/3282	1051/1093	C/Y	tGc/tAc		1		1	NLRP14	HGNC	HGNC:22939	protein_coding	YES	CCDS7776.1	ENSP00000299481	Q86W24		UPI0000167F6E	NM_176822.3	tolerated(0.13)		12/12		Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	52	7071178	7071178	G	A	1	0	0	0	0	1	0	0	0	10513	1333	46	3		3	NLRP14	11	7071178	Missense_Mutation	SNP	G	C3N-00550_TP		7071178	128015444	22	16655											
AMBRA1	0	.	GRCh38	chr11	46543291	46543291	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggacagcatgtgcaggaaAttgtggaggagaggcgtccg	11	6	18	6	2	0	1	0	0	0	1	1	6	1	4	1	5	2	2	1	5	1	1	novel		C3N-00550_TP	C3N-00550_NB	A	A																c.726T>G	p.Asn242Lys	p.N242K	ENST00000534300	7/17	158	144	14	191	191	0	strelka-varscan-mutect	AMBRA1,missense_variant,p.Asn242Lys,ENST00000458649,;AMBRA1,missense_variant,p.Asn242Lys,ENST00000534300,NM_001300731.1;AMBRA1,missense_variant,p.Asn242Lys,ENST00000314845,NM_017749.3,NM_001267782.1;AMBRA1,missense_variant,p.Asn242Lys,ENST00000533727,NM_001267783.1;AMBRA1,missense_variant,p.Asn242Lys,ENST00000528950,;AMBRA1,downstream_gene_variant,,ENST00000531542,;AMBRA1,downstream_gene_variant,,ENST00000524783,;	C	ENST00000534300	Transcript	missense_variant	1040/5067	726/3717	242/1238	N/K	aaT/aaG		1		-1	AMBRA1	HGNC	HGNC:25990	protein_coding	YES	CCDS73281.1	ENSP00000431926	Q9C0C7		UPI00005A6107	NM_001300731.1	deleterious_low_confidence(0)		7/17		hmmpanther:PTHR22874,hmmpanther:PTHR22874:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	52	46543291	46543291	A	C	1	0	0	0	0	1	0	0	0	661	98	4	5		5	AMBRA1	11	46543291	Missense_Mutation	SNP	A	C3N-00550_TP	39472113	46543291	88543331	23	16656											
FADS2	0	.	GRCh38	chr11	61840355	61840355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagatcactgaggacttcCgggccctgaggaagacggct	11	6	13	11	2	1	4	1	2	0	2	2	6	2	6	2	4	0	1	2	4	2	1	rs199630600		C3N-00550_TP	C3N-00550_NB	C	C																c.340C>T	p.Arg114Trp	p.R114W	ENST00000278840	3/12	328	271	57	305	304	1	strelka-varscan-mutect	FADS2,missense_variant,p.Arg114Trp,ENST00000278840,NM_004265.3;FADS2,missense_variant,p.Arg92Trp,ENST00000257261,NM_001281501.1;FADS2,missense_variant,p.Arg114Trp,ENST00000521849,;FADS2,missense_variant,p.Arg83Trp,ENST00000522056,NM_001281502.1;FADS2,5_prime_UTR_variant,,ENST00000521571,;FADS2,5_prime_UTR_variant,,ENST00000517312,;FADS2,5_prime_UTR_variant,,ENST00000518606,;FADS2,upstream_gene_variant,,ENST00000520145,;	T	ENST00000278840	Transcript	missense_variant	970/3630	340/1335	114/444	R/W	Cgg/Tgg	rs199630600	1		1	FADS2	HGNC	HGNC:3575	protein_coding	YES	CCDS8012.1	ENSP00000278840	O95864		UPI000003405E	NM_004265.3	deleterious(0)		3/12		PIRSF_domain:PIRSF015921,hmmpanther:PTHR19353,hmmpanther:PTHR19353:SF12																	MODERATE	1	SNV	1			1										PASS		rs199630600	.												T	3	4	52	61840355	61840355	C	T	1	0	0	0	0	1	0	0	0	5238	643	23	1		1	FADS2	11	61840355	Missense_Mutation	SNP	C	C3N-00550_TP	15297064	61840355	73246267	24	16657											
JRKL	0	.	GRCh38	chr11	96391760	96391760	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcactttatgaaatagcaAtggcatggaacttagtaaaa	17	11	8	5	0	0	1	0	1	0	0	0	2	0	2	0	2	3	4	0	2	8	5	novel		C3N-00550_TP	C3N-00550_NB	A	A																c.1111A>C	p.Met371Leu	p.M371L	ENST00000332349	2/2	258	206	52	232	232	0	strelka-varscan-mutect	JRKL,missense_variant,p.Met371Leu,ENST00000332349,NM_001261833.1,NM_003772.3;CCDC82,upstream_gene_variant,,ENST00000278520,NM_001318736.1,NM_024725.3;CCDC82,upstream_gene_variant,,ENST00000538597,;JRKL,intron_variant,,ENST00000546177,;CCDC82,upstream_gene_variant,,ENST00000525786,;CCDC82,upstream_gene_variant,,ENST00000524836,;	C	ENST00000332349	Transcript	missense_variant	1358/2855	1111/1575	371/524	M/L	Atg/Ctg		1		1	JRKL	HGNC	HGNC:6200	protein_coding	YES	CCDS8308.1	ENSP00000333350	Q9Y4A0		UPI0000167818	NM_001261833.1,NM_003772.3	tolerated(0.33)		2/2		Pfam_domain:PF03184,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF174																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	52	96391760	96391760	A	C	1	0	0	0	0	1	0	0	0	7877	101	4	5		5	JRKL	11	96391760	Missense_Mutation	SNP	A	C3N-00550_TP	34551405	96391760	38694862	25	16658											
CACNA1C	0	.	GRCh38	chr12	2668933	2668933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttctcttcgcctgcagCgcctggtctccatgaacatg	5	13	9	14	2	2	1	0	1	2	0	5	1	2	1	3	1	4	2	3	1	1	3			C3N-00550_TP	C3N-00550_NB	C	C																c.4768C>T	p.Arg1590Cys	p.R1590C	ENST00000347598	40/49	119	89	30	111	111	0	strelka-varscan-mutect	CACNA1C,missense_variant,p.Arg1542Cys,ENST00000399655,NM_000719.6;CACNA1C,missense_variant,p.Arg1542Cys,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Arg1542Cys,ENST00000406454,;CACNA1C,missense_variant,p.Arg1542Cys,ENST00000399617,NM_001167624.2;CACNA1C,missense_variant,p.Arg1542Cys,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Arg1567Cys,ENST00000335762,;CACNA1C,missense_variant,p.Arg1590Cys,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,missense_variant,p.Arg1564Cys,ENST00000344100,NM_001129829.1;CACNA1C,missense_variant,p.Arg1542Cys,ENST00000327702,NM_001129830.2;CACNA1C,missense_variant,p.Arg1570Cys,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Arg1562Cys,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Arg1542Cys,ENST00000399621,NM_001129834.1;CACNA1C,missense_variant,p.Arg1542Cys,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Arg1542Cys,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Arg1559Cys,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Arg1531Cys,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,missense_variant,p.Arg1531Cys,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Arg1529Cys,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Arg1542Cys,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,missense_variant,p.Arg1542Cys,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Arg1542Cys,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Arg1542Cys,ENST00000399644,NM_001129841.1;CACNA1C,missense_variant,p.Arg233Cys,ENST00000616390,;CACNA1C-AS2,non_coding_transcript_exon_variant,,ENST00000545526,;CACNA1C,splice_region_variant,,ENST00000465934,;	T	ENST00000347598	Transcript	missense_variant,splice_region_variant	4768/6655	4768/6561	1590/2186	R/C	Cgc/Tgc	COSM4041181,COSM468212,COSM468213,COSM468214,COSM468215,COSM468216	1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3	deleterious(0)		40/49		Pfam_domain:PF16905,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188											1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1	1										PASS		.	.												T	3	4	52	2668933	2668933	C	T	1	0	0	0	0	1	0	0	0	2228	782	27	1		1	CACNA1C	12	2668933	Missense_Mutation	SNP	C	C3N-00550_TP		2668933	130606376	26	16659											
CLEC2B	0	.	GRCh38	chr12	9857594	9857594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catttgttttggaaaccaatCcaatcataggggcataaact	14	12	7	8	0	1	0	1	0	0	0	2	1	2	1	2	3	2	2	2	3	6	5			C3N-00550_TP	C3N-00550_NB	C	C																c.117G>T	p.Trp39Cys	p.W39C	ENST00000228438	3/5	167	151	16	194	193	1	strelka-varscan-mutect	CLEC2B,missense_variant,p.Trp39Cys,ENST00000228438,NM_005127.2;CLEC2B,upstream_gene_variant,,ENST00000538152,;CLEC2B,non_coding_transcript_exon_variant,,ENST00000540743,;CLEC2B,non_coding_transcript_exon_variant,,ENST00000539028,;	A	ENST00000228438	Transcript	missense_variant	1051/1700	117/450	39/149	W/C	tgG/tgT	COSM1365139	1		-1	CLEC2B	HGNC	HGNC:2053	protein_coding	YES	CCDS8605.1	ENSP00000228438	Q92478		UPI000013C8D4	NM_005127.2	deleterious(0)		3/5		Gene3D:3.10.100.10,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF172,SMART_domains:SM00034,Superfamily_domains:SSF56436											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	52	9857594	9857594	C	A	1	0	0	0	0	1	0	0	0	3275	856	30	2		2	CLEC2B	12	9857594	Missense_Mutation	SNP	C	C3N-00550_TP	7188661	9857594	123417715	27	16660											
ETV6	0	.	GRCh38	chr12	11839283	11839283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgaccaaagaggactttCgctatcgatctcctcattca	10	12	7	12	2	3	2	2	1	1	1	6	4	3	3	2	1	1	2	2	1	2	3			C3N-00550_TP	C3N-00550_NB	C	C																c.307C>T	p.Arg103Cys	p.R103C	ENST00000396373	3/8	72	52	20	79	79	0	strelka-varscan-mutect	ETV6,missense_variant,p.Arg103Cys,ENST00000396373,NM_001987.4;ETV6,missense_variant,p.Arg75Cys,ENST00000545027,;	T	ENST00000396373	Transcript	missense_variant	581/5989	307/1359	103/452	R/C	Cgc/Tgc	COSM4973065	1		1	ETV6	HGNC	HGNC:3495	protein_coding	YES	CCDS8643.1	ENSP00000379658	P41212	A0A0S2Z3C9	UPI000000DA45	NM_001987.4	deleterious(0)		3/8		PROSITE_profiles:PS51433,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF19,Gene3D:1.10.150.50,Pfam_domain:PF02198,SMART_domains:SM00251,Superfamily_domains:SSF47769											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	52	11839283	11839283	C	T	1	0	0	0	0	1	0	0	0	5147	884	31	1		1	ETV6	12	11839283	Missense_Mutation	SNP	C	C3N-00550_TP	1981689	11839283	121436026	28	16661											
KCNC2	0	.	GRCh38	chr12	75207941	75207941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcgtgccgggtgccccCgacattgaggatcaccctct	5	10	12	14	3	2	1	1	1	1	0	3	3	2	2	4	3	2	1	4	3	0	2			C3N-00550_TP	C3N-00550_NB	C	C																c.43G>A	p.Gly15Arg	p.G15R	ENST00000549446	2/5	217	179	38	541	541	0	strelka-varscan-mutect	KCNC2,missense_variant,p.Gly15Arg,ENST00000549446,NM_139137.3;KCNC2,missense_variant,p.Gly15Arg,ENST00000298972,NM_139136.3;KCNC2,missense_variant,p.Gly15Arg,ENST00000350228,NM_153748.2;KCNC2,missense_variant,p.Gly15Arg,ENST00000548513,;KCNC2,missense_variant,p.Gly15Arg,ENST00000550433,NM_001260498.1;KCNC2,missense_variant,p.Gly15Arg,ENST00000393288,NM_001260497.1;KCNC2,missense_variant,p.Gly15Arg,ENST00000540018,NM_001260499.1;	T	ENST00000549446	Transcript	missense_variant	724/5625	43/1917	15/638	G/R	Ggg/Agg	COSM3671199,COSM3671200,COSM3671201	1		-1	KCNC2	HGNC	HGNC:6234	protein_coding	YES	CCDS9007.1	ENSP00000449253	Q96PR1	A0A024RBA5	UPI000004DB9B	NM_139137.3	deleterious(0)		2/5		Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF157,SMART_domains:SM00225,Superfamily_domains:SSF54695											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	52	75207941	75207941	C	T	1	0	0	0	0	1	0	0	0	7931	652	23	1		1	KCNC2	12	75207941	Missense_Mutation	SNP	C	C3N-00550_TP	63368658	75207941	58067368	29	16662											
GEMIN2	0	.	GRCh38	chr14	39122429	39122429	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttttttttttcttttaGccaaaatctgaagatgaaga	11	20	6	4	0	2	4	0	2	2	2	2	4	2	4	1	0	1	1	1	0	5	8	novel		C3N-00550_TP	C3N-00550_NB	G	G																c.406-1G>T		p.X136_splice	ENST00000308317		101	91	10	112	112	0	varscan-mutect	GEMIN2,splice_acceptor_variant,,ENST00000308317,NM_003616.2;GEMIN2,splice_acceptor_variant,,ENST00000250379,NM_001009182.1;GEMIN2,splice_acceptor_variant,,ENST00000396249,NM_001009183.1;GEMIN2,splice_acceptor_variant,,ENST00000534684,;GEMIN2,splice_acceptor_variant,,ENST00000527381,;GEMIN2,splice_acceptor_variant,,ENST00000525153,;GEMIN2,splice_acceptor_variant,,ENST00000412033,;GEMIN2,splice_acceptor_variant,,ENST00000525430,;GEMIN2,splice_acceptor_variant,,ENST00000531684,;	T	ENST00000308317	Transcript	splice_acceptor_variant	-/1420	406/843	136/280				1		1	GEMIN2	HGNC	HGNC:10884	protein_coding	YES	CCDS9669.1	ENSP00000308533	O14893		UPI000012B3B7	NM_003616.2				4/9																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	52	39122429	39122429	G	T	1	0	0	0	0	0	0	1	0	6203	985	34	2		2	GEMIN2	14	39122429	Splice_Site	SNP	G	C3N-00550_TP		39122429	67921289	30	16663											
DUOX1	0	.	GRCh38	chr15	45135657	45135657	+	Frame_Shift_Del	DEL	G	G	-																															accccgccaccgggcagaacGggccccgggggctgtacggt																								novel		C3N-00550_TP	C3N-00550_NB	G	G																c.681delG	p.Arg229GlyfsTer112	p.R229Gfs*112	ENST00000321429	7/35	32	26	6	60	60	0	sindel-varindel	DUOX1,frameshift_variant,p.Arg229GlyfsTer112,ENST00000321429,NM_017434.4;DUOX1,frameshift_variant,p.Arg229GlyfsTer112,ENST00000389037,NM_175940.2;DUOX1,upstream_gene_variant,,ENST00000561166,;DUOX1,downstream_gene_variant,,ENST00000558322,;DUOX1,frameshift_variant,p.Arg229GlyfsTer112,ENST00000561220,;DUOX1,upstream_gene_variant,,ENST00000558991,;	-	ENST00000321429	Transcript	frameshift_variant	1086/5738	679/4656	227/1551	G/X	Ggg/gg		1		1	DUOX1	HGNC	HGNC:3062	protein_coding	YES	CCDS32221.1	ENSP00000317997	Q9NRD9		UPI000006E50E	NM_017434.4			7/35		PROSITE_profiles:PS50292,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	52	45135657	45135657	G	-	1	0	1	0	1	0	0	0	0	4622	1116	39	0		0	DUOX1	15	45135657	Frame_Shift_Del	DEL	G	C3N-00550_TP		45135657	56855532	31	16664											
BNIP2	0	.	GRCh38	chr15	59672660	59672660	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagattgtccatcaggtaTctatagttaggctgactact	13	13	8	7	0	2	2	1	1	1	1	3	2	3	2	1	2	1	3	1	2	7	6	rs374057170		C3N-00550_TP	C3N-00550_NB	T	T																c.915A>C	p.Arg305Ser	p.R305S	ENST00000267859	6/10	142	111	31	163	163	0	strelka-varscan-mutect	BNIP2,missense_variant,p.Arg305Ser,ENST00000267859,NM_001320675.1;BNIP2,missense_variant,p.Arg305Ser,ENST00000612191,NM_004330.2;BNIP2,missense_variant,p.Arg184Ser,ENST00000607373,;BNIP2,missense_variant,p.Arg246Ser,ENST00000415213,;BNIP2,missense_variant,p.Arg62Ser,ENST00000439052,;AC092755.4,upstream_gene_variant,,ENST00000441746,;BNIP2,upstream_gene_variant,,ENST00000478981,;BNIP2,3_prime_UTR_variant,,ENST00000448414,;BNIP2,non_coding_transcript_exon_variant,,ENST00000464390,;BNIP2,upstream_gene_variant,,ENST00000560776,;PIGHP1,upstream_gene_variant,,ENST00000558833,;	G	ENST00000267859	Transcript	missense_variant	1009/6325	915/1308	305/435	R/S	agA/agC	rs374057170	1		-1	BNIP2	HGNC	HGNC:1083	protein_coding	YES	CCDS10174.2	ENSP00000267859		J3KN59	UPI0000E59C57	NM_001320675.1	tolerated(0.18)		6/10		Pfam_domain:PF13716,PROSITE_profiles:PS50191,hmmpanther:PTHR12112,hmmpanther:PTHR12112:SF12,SMART_domains:SM00516,Superfamily_domains:SSF52087																	MODERATE	1	SNV	1			1										PASS		rs374057170	.												G	3	3	52	59672660	59672660	T	G	1	0	0	0	0	1	0	0	0	1633	1432	50	5		5	BNIP2	15	59672660	Missense_Mutation	SNP	T	C3N-00550_TP	14537003	59672660	42318529	32	16665											
MRPL28	0	.	GRCh38	chr16	368352	368356	+	Frame_Shift_Del	DEL	CTCAA	CTCAA	-																															tcctccaaaagtctctgcttCtcaatggcctcctccagcgt																								novel		C3N-00550_TP	C3N-00550_NB	CTCAA	CTCAA																c.635_639delTTGAG	p.Ile212LysfsTer52	p.I212Kfs*52	ENST00000199706	5/6	254	236	18	213	213	0	sindel-varindel-pindel	MRPL28,frameshift_variant,p.Ile212LysfsTer52,ENST00000199706,NM_006428.4;MRPL28,frameshift_variant,p.Ile212LysfsTer52,ENST00000389675,;MRPL28,frameshift_variant,p.Ile212LysfsTer?,ENST00000441883,;MRPL28,frameshift_variant,p.Ile212LysfsTer?,ENST00000447696,;MRPL28,intron_variant,,ENST00000429738,;TMEM8A,downstream_gene_variant,,ENST00000431232,NM_021259.2;TMEM8A,downstream_gene_variant,,ENST00000250930,;TMEM8A,downstream_gene_variant,,ENST00000448854,;TMEM8A,downstream_gene_variant,,ENST00000424078,;MRPL28,downstream_gene_variant,,ENST00000450882,;MRPL28,non_coding_transcript_exon_variant,,ENST00000481453,;MRPL28,non_coding_transcript_exon_variant,,ENST00000483764,;MRPL28,non_coding_transcript_exon_variant,,ENST00000461550,;MRPL28,non_coding_transcript_exon_variant,,ENST00000469744,;	-	ENST00000199706	Transcript	frameshift_variant	671-675/1098	635-639/771	212-213/256	IE/X	aTTGAG/a		1		-1	MRPL28	HGNC	HGNC:14484	protein_coding	YES	CCDS32349.1	ENSP00000199706	Q13084		UPI00001678A4	NM_006428.4			5/6		hmmpanther:PTHR13528,hmmpanther:PTHR13528:SF2																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	52	368352	368352	CTCAA	-	1	0	1	0	1	0	0	0	0	9767	912	32	0		0	MRPL28	16	368352	Frame_Shift_Del	DEL	CTCAA	C3N-00550_TP		368352	89969993	33	16666											
NOB1	0	.	GRCh38	chr16	69748250	69748250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgaaacagccatggcagCgcaagatgtagctccgggcc	11	6	12	12	2	0	2	0	1	0	1	1	2	1	2	3	2	4	4	3	2	3	2	rs199699618		C3N-00550_TP	C3N-00550_NB	C	C																c.806G>A	p.Arg269His	p.R269H	ENST00000268802	7/9	152	132	20	182	182	0	strelka-varscan-mutect	NOB1,missense_variant,p.Arg269His,ENST00000268802,NM_014062.2;NOB1,3_prime_UTR_variant,,ENST00000569871,;NOB1,3_prime_UTR_variant,,ENST00000564620,;NOB1,downstream_gene_variant,,ENST00000561677,;NOB1,downstream_gene_variant,,ENST00000562416,;NOB1,downstream_gene_variant,,ENST00000563055,;	T	ENST00000268802	Transcript	missense_variant	836/1734	806/1239	269/412	R/H	cGc/cAc	rs199699618,COSM1217537	1		-1	NOB1	HGNC	HGNC:29540	protein_coding	YES	CCDS10884.1	ENSP00000268802	Q9ULX3		UPI0000034E10	NM_014062.2	deleterious(0)		7/9		hmmpanther:PTHR12814:SF2,hmmpanther:PTHR12814,Pfam_domain:PF08772,Superfamily_domains:0052201											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs199699618	.												T	3	4	52	69748250	69748250	C	T	1	0	0	0	0	1	0	0	0	10553	768	27	1		1	NOB1	16	69748250	Missense_Mutation	SNP	C	C3N-00550_TP	69379898	69748250	20590095	34	16667											
NECAB2	0	.	GRCh38	chr16	83998306	83998306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggggaccactggcgtgagGaactgcttccagtgagtgag	8	7	17	9	2	0	3	0	3	0	0	1	5	1	5	2	4	2	1	2	4	1	1	novel		C3N-00550_TP	C3N-00550_NB	G	G																c.951G>T	p.Arg317Ser	p.R317S	ENST00000305202	10/13	135	120	15	136	135	1	strelka-varscan-mutect	NECAB2,missense_variant,p.Arg234Ser,ENST00000565691,;NECAB2,missense_variant,p.Arg317Ser,ENST00000305202,NM_019065.2;NECAB2,missense_variant,p.Arg19Ser,ENST00000564166,;NECAB2,downstream_gene_variant,,ENST00000566836,;NECAB2,downstream_gene_variant,,ENST00000567703,;	T	ENST00000305202	Transcript	missense_variant	968/1608	951/1161	317/386	R/S	agG/agT		1		1	NECAB2	HGNC	HGNC:23746	protein_coding	YES	CCDS10940.1	ENSP00000307449	Q7Z6G3		UPI00001A9944	NM_019065.2	tolerated(0.75)		10/13		PROSITE_profiles:PS51725,hmmpanther:PTHR12178:SF2,hmmpanther:PTHR12178,Pfam_domain:PF03992,Gene3D:3.30.70.900,Superfamily_domains:SSF54909																	MODERATE	1	SNV	1			1										PASS		rs1410011644	.												T	3	4	52	83998306	83998306	G	T	1	0	0	0	0	1	0	0	0	10329	1165	41	2		2	NECAB2	16	83998306	Missense_Mutation	SNP	G	C3N-00550_TP	14250056	83998306	6340039	35	16668											
TP53	0	.	GRCh38	chr17	7675238	7675238	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgagggcaggggagtacTgtaggaagaggaaggagaca	13	6	19	3	0	0	3	0	1	0	2	0	7	0	6	0	6	1	4	0	6	4	3	rs786202799		C3N-00550_TP	C3N-00550_NB	T	T																c.376-2A>G		p.X126_splice	ENST00000269305		188	142	46	302	302	0	strelka-varscan-mutect	TP53,splice_acceptor_variant,,ENST00000617185,NM_001126114.2;TP53,splice_acceptor_variant,,ENST00000420246,;TP53,splice_acceptor_variant,,ENST00000622645,NM_001276696.1;TP53,splice_acceptor_variant,,ENST00000610292,NM_001126118.1;TP53,splice_acceptor_variant,,ENST00000455263,NM_001126113.2;TP53,splice_acceptor_variant,,ENST00000610538,NM_001276695.1;TP53,splice_acceptor_variant,,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,splice_acceptor_variant,,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000619485,;TP53,splice_acceptor_variant,,ENST00000359597,;TP53,splice_acceptor_variant,,ENST00000413465,;TP53,splice_acceptor_variant,,ENST00000509690,;TP53,splice_acceptor_variant,,ENST00000508793,;TP53,splice_acceptor_variant,,ENST00000503591,;TP53,splice_acceptor_variant,,ENST00000514944,;TP53,missense_variant,p.Lys114Arg,ENST00000615910,;TP53,5_prime_UTR_variant,,ENST00000510385,NM_001126116.1;TP53,5_prime_UTR_variant,,ENST00000618944,NM_001276698.1;TP53,5_prime_UTR_variant,,ENST00000504290,NM_001126117.1;TP53,5_prime_UTR_variant,,ENST00000610623,NM_001276699.1;TP53,5_prime_UTR_variant,,ENST00000504937,NM_001126115.1;TP53,5_prime_UTR_variant,,ENST00000619186,NM_001276697.1;TP53,intron_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000635293,;TP53,splice_acceptor_variant,,ENST00000505014,;	C	ENST00000269305	Transcript	splice_acceptor_variant	-/2579	376/1182	126/393			rs786202799,CS114003,TP53_g.12362A>G,TP53_g.12362A>T,TP53_g.12362del,TP53_g.12362A>C,COSM1646843,COSM1649367,COSM21585,COSM318166,COSM318167,COSM318168,COSM3388230,COSM3675526,COSM3675527,COSM3675528,COSM3675529,COSM3675530,COSM3717681,COSM45658,COSM45672,COSM46049,COSM562615,COSM562616,COSM562617	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5				4/10											likely_pathogenic	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						HIGH	1	SNV	1		1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs786202799	.												C	5	2	52	7675238	7675238	T	C	1	0	0	0	0	0	0	1	0	16859	1594	55	5		5	TP53	17	7675238	Splice_Site	SNP	T	C3N-00550_TP		7675238	75582203	36	16669											
ZNF385C	0	.	GRCh38	chr17	42028188	42028188	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcccctggacaccgggcgGccccggctcctccggggagc	3	4	14	20	4	0	0	0	0	0	0	3	2	3	2	8	6	1	1	8	6	0	0	novel		C3N-00550_TP	C3N-00550_NB	G	G																c.789C>A	p.=	p.G263G	ENST00000618554	6/8	63	58	5	96	95	1	strelka-varscan-mutect	ZNF385C,synonymous_variant,p.=,ENST00000618554,NM_001242704.1;ZNF385C,synonymous_variant,p.=,ENST00000436535,;NKIRAS2,downstream_gene_variant,,ENST00000307641,NM_001001349.2;NKIRAS2,downstream_gene_variant,,ENST00000393885,NM_001144927.1,NM_017595.5;NKIRAS2,downstream_gene_variant,,ENST00000393880,;NKIRAS2,downstream_gene_variant,,ENST00000393881,;NKIRAS2,downstream_gene_variant,,ENST00000449471,NM_001144928.1;NKIRAS2,downstream_gene_variant,,ENST00000479407,NM_001144929.1;NKIRAS2,downstream_gene_variant,,ENST00000316082,;NKIRAS2,downstream_gene_variant,,ENST00000462043,;NKIRAS2,downstream_gene_variant,,ENST00000587337,;ZNF385C,non_coding_transcript_exon_variant,,ENST00000461831,;NKIRAS2,downstream_gene_variant,,ENST00000393879,;ZNF385C,upstream_gene_variant,,ENST00000496039,;NKIRAS2,downstream_gene_variant,,ENST00000491638,;NKIRAS2,downstream_gene_variant,,ENST00000485789,;	T	ENST00000618554	Transcript	synonymous_variant	789/2596	789/1275	263/424	G	ggC/ggA		1		-1	ZNF385C	HGNC	HGNC:33722	protein_coding	YES	CCDS74065.1	ENSP00000480744		A0A087WX54	UPI0001E6F8A9	NM_001242704.1			6/8		hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF6,Low_complexity_(Seg):seg																	LOW		SNV	5			1										PASS		.	.												T	2	4	52	42028188	42028188	G	T	1	0	0	0	0	0	0	0	1	18450	1190	42	2		2	ZNF385C	17	42028188	Silent	SNP	G	C3N-00550_TP	34352950	42028188	41229253	37	16670											
POLRMT	0	.	GRCh38	chr19	619669	619669	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccgtacaccaccgtcaTcaccgtctgcttcaccacct	8	8	5	20	3	4	0	3	0	1	0	4	1	4	0	7	0	2	2	7	0	1	2	novel		C3N-00550_TP	C3N-00550_NB	T	T																c.2983A>T	p.Met995Leu	p.M995L	ENST00000588649	13/21	111	80	31	150	150	0	strelka-varscan-mutect	POLRMT,missense_variant,p.Met995Leu,ENST00000588649,NM_005035.3;HCN2,downstream_gene_variant,,ENST00000251287,NM_001194.3;POLRMT,downstream_gene_variant,,ENST00000590573,;POLRMT,upstream_gene_variant,,ENST00000590336,;POLRMT,upstream_gene_variant,,ENST00000587057,;POLRMT,downstream_gene_variant,,ENST00000590709,;POLRMT,upstream_gene_variant,,ENST00000589961,;POLRMT,upstream_gene_variant,,ENST00000592633,;	A	ENST00000588649	Transcript	missense_variant	3075/3835	2983/3693	995/1230	M/L	Atg/Ttg		1		-1	POLRMT	HGNC	HGNC:9200	protein_coding	YES	CCDS12036.1	ENSP00000465759	O00411		UPI000013C68E	NM_005035.3	deleterious(0)		13/21		hmmpanther:PTHR10102:SF0,hmmpanther:PTHR10102,PROSITE_patterns:PS00489,Gene3D:1.10.150.20,Pfam_domain:PF00940,Superfamily_domains:SSF56672																	MODERATE	1	SNV	1			1										PASS		rs1290937780	.												A	3	1	52	619669	619669	T	A	1	0	0	0	0	1	0	0	0	12349	1435	50	4		4	POLRMT	19	619669	Missense_Mutation	SNP	T	C3N-00550_TP		619669	57997947	38	16671											
GRIN3B	0	.	GRCh38	chr19	1009526	1009526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcgcacgtcaccggcCtcggcgcttgcttcaggcca	6	6	13	16	5	2	0	2	0	0	0	3	1	2	1	3	4	2	3	3	4	0	2	novel		C3N-00550_TP	C3N-00550_NB	C	C																c.3056C>A	p.Pro1019His	p.P1019H	ENST00000234389	9/9	81	65	16	157	157	0	strelka-varscan-mutect	GRIN3B,missense_variant,p.Pro1019His,ENST00000234389,NM_138690.1;TMEM259,downstream_gene_variant,,ENST00000356663,NM_001033026.1;TMEM259,downstream_gene_variant,,ENST00000333175,NM_033420.3;TMEM259,downstream_gene_variant,,ENST00000592590,;TMEM259,downstream_gene_variant,,ENST00000586285,;TMEM259,downstream_gene_variant,,ENST00000586250,;LLNLR-284B4.1,upstream_gene_variant,,ENST00000610701,;GRIN3B,downstream_gene_variant,,ENST00000588335,;TMEM259,downstream_gene_variant,,ENST00000586704,;TMEM259,downstream_gene_variant,,ENST00000593068,;TMEM259,downstream_gene_variant,,ENST00000592618,;TMEM259,downstream_gene_variant,,ENST00000592052,;TMEM259,downstream_gene_variant,,ENST00000589055,;TMEM259,downstream_gene_variant,,ENST00000607316,;TMEM259,downstream_gene_variant,,ENST00000589831,;	A	ENST00000234389	Transcript	missense_variant	3075/3281	3056/3132	1019/1043	P/H	cCt/cAt		1		1	GRIN3B	HGNC	HGNC:16768	protein_coding	YES	CCDS32861.1	ENSP00000234389	O60391		UPI000004064B	NM_138690.1	deleterious_low_confidence(0)		9/9		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	52	1009526	1009526	C	A	1	0	0	0	0	1	0	0	0	6666	681	24	2		2	GRIN3B	19	1009526	Missense_Mutation	SNP	C	C3N-00550_TP	389857	1009526	57608090	39	16672											
ZNF114	0	.	GRCh38	chr19	48286383	48286383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtatgattttactcagtgCgagaacacctccagaaataa	15	11	7	8	1	1	3	1	1	0	2	2	4	2	3	2	0	3	1	2	0	5	4	rs764325220		C3N-00550_TP	C3N-00550_NB	C	C																c.759C>T	p.=	p.C253C	ENST00000595607	6/6	243	188	55	329	329	0	strelka-varscan-mutect	ZNF114,synonymous_variant,p.=,ENST00000595607,NM_153608.2;ZNF114,synonymous_variant,p.=,ENST00000315849,;ZNF114,synonymous_variant,p.=,ENST00000597695,NM_001301062.1;ZNF114,synonymous_variant,p.=,ENST00000600687,;ZNF114,downstream_gene_variant,,ENST00000595408,;ZNF114,downstream_gene_variant,,ENST00000594024,;ZNF114,downstream_gene_variant,,ENST00000601320,;ZNF114,downstream_gene_variant,,ENST00000598898,;	T	ENST00000595607	Transcript	synonymous_variant	1253/2478	759/1254	253/417	C	tgC/tgT	rs764325220,COSM316714	1		1	ZNF114	HGNC	HGNC:12894	protein_coding	YES	CCDS12713.1	ENSP00000469998	Q8NC26		UPI000007282E	NM_153608.2			6/6													0,1						LOW	1	SNV	1		0,1	1										PASS		rs764325220	.												T	2	4	52	48286383	48286383	C	T	1	0	0	0	0	0	0	0	1	18297	776	27	1		1	ZNF114	19	48286383	Silent	SNP	C	C3N-00550_TP	47276857	48286383	10331233	40	16673											
AC018755.18	0	.	GRCh38	chr19	51629899	51629899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcccttcctctctccacgcGgaagaaatagcttcccgtgt	8	11	7	15	3	1	1	0	0	1	1	6	2	5	2	4	1	1	1	4	1	3	3	rs773993688		C3N-00550_TP	C3N-00550_NB	G	G																c.355C>T	p.Arg119Cys	p.R119C	ENST00000534261	3/10	61	44	17	67	67	0	strelka-varscan-mutect	SIGLEC5,missense_variant,p.Arg119Cys,ENST00000534261,NM_003830.3;AC018755.18,missense_variant,p.Arg119Cys,ENST00000429354,;AC018755.18,intron_variant,,ENST00000599649,;	A	ENST00000534261	Transcript	missense_variant	755/2360	355/1656	119/551	R/C	Cgc/Tgc	rs773993688	1		-1	SIGLEC5	HGNC	HGNC:10874	protein_coding	YES	CCDS33088.1	ENSP00000473238	O15389		UPI000011B40C	NM_003830.3	deleterious(0)		3/10		PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF67,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		rs773993688	.												A	3	1	52	51629899	51629899	G	A	1	0	0	0	0	1	0	0	0	125	1116	39	1		1	AC018755.18	19	51629899	Missense_Mutation	SNP	G	C3N-00550_TP	3343516	51629899	6987717	41	16674											
BRSK1	0	.	GRCh38	chr19	55308695	55308695	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcacagctcctgagcActcatgaccagccctccgtg	8	7	9	17	1	1	2	1	2	0	0	4	2	4	2	5	1	3	3	5	1	0	0	novel		C3N-00550_TP	C3N-00550_NB	A	A																c.2146A>T	p.Thr716Ser	p.T716S	ENST00000309383	18/19	255	186	69	352	352	0	strelka-varscan-mutect	BRSK1,missense_variant,p.Thr716Ser,ENST00000309383,NM_032430.1;BRSK1,missense_variant,p.Thr732Ser,ENST00000590333,;BRSK1,missense_variant,p.Thr411Ser,ENST00000326848,;TMEM150B,downstream_gene_variant,,ENST00000326652,NM_001085488.2,NM_001282011.1;BRSK1,downstream_gene_variant,,ENST00000591774,;TMEM150B,downstream_gene_variant,,ENST00000585918,;CTD-2105E13.14,downstream_gene_variant,,ENST00000596786,;BRSK1,downstream_gene_variant,,ENST00000588584,;TMEM150B,downstream_gene_variant,,ENST00000586609,;TMEM150B,downstream_gene_variant,,ENST00000592603,;BRSK1,downstream_gene_variant,,ENST00000586626,;TMEM150B,downstream_gene_variant,,ENST00000592731,;	T	ENST00000309383	Transcript	missense_variant	2423/3079	2146/2337	716/778	T/S	Act/Tct		1		1	BRSK1	HGNC	HGNC:18994	protein_coding	YES	CCDS12921.1	ENSP00000310649	Q8TDC3		UPI0000070495	NM_032430.1	tolerated(0.33)		18/19																			MODERATE	1	SNV	1			1										PASS		rs1254458750	.												T	3	4	52	55308695	55308695	A	T	1	0	0	0	0	1	0	0	0	1697	159	6	4		4	BRSK1	19	55308695	Missense_Mutation	SNP	A	C3N-00550_TP	3678796	55308695	3308921	42	16675											
NLRP4	0	.	GRCh38	chr19	55870830	55870830	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttgtccccataggttGgctttctgccacctcagcga	5	15	9	12	1	2	0	1	0	1	0	3	1	3	0	4	2	2	3	4	2	1	5	novel		C3N-00550_TP	C3N-00550_NB	G	G																c.2358G>A	p.=	p.L786L	ENST00000301295	7/10	69	65	4	83	83	0	varscan-mutect	NLRP4,synonymous_variant,p.=,ENST00000301295,NM_134444.4;NLRP4,synonymous_variant,p.=,ENST00000587891,;NLRP4,synonymous_variant,p.=,ENST00000589437,;	A	ENST00000301295	Transcript	synonymous_variant	2780/3670	2358/2985	786/994	L	ttG/ttA		1		1	NLRP4	HGNC	HGNC:22943	protein_coding	YES	CCDS12936.1	ENSP00000301295	Q96MN2		UPI000013E6FD	NM_134444.4			7/10		hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	52	55870830	55870830	G	A	1	0	0	0	0	0	0	0	1	10517	1362	47	3		3	NLRP4	19	55870830	Silent	SNP	G	C3N-00550_TP	562135	55870830	2746786	43	16676											
NPEPL1	0	.	GRCh38	chr20	58713947	58713947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagggaagtaccacgccgcgGtgctcaccaacagcgctgag	10	4	13	14	4	1	1	1	1	0	0	1	2	1	2	3	2	4	3	3	2	3	1			C3N-00550_TP	C3N-00550_NB	G	G																c.1156G>A	p.Val386Met	p.V386M	ENST00000356091	10/12	37	33	4	65	65	0	strelka-mutect	NPEPL1,missense_variant,p.Val386Met,ENST00000356091,NM_024663.3;NPEPL1,missense_variant,p.Val358Met,ENST00000525967,NM_001204872.1;NPEPL1,missense_variant,p.Val338Met,ENST00000525817,NM_001204873.1;RP11-261P9.4,downstream_gene_variant,,ENST00000530479,;STX16-NPEPL1,3_prime_UTR_variant,,ENST00000530122,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000529976,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000527587,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000527081,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000525068,;NPEPL1,upstream_gene_variant,,ENST00000532531,;NPEPL1,downstream_gene_variant,,ENST00000533788,;	A	ENST00000356091	Transcript	missense_variant	1444/2378	1156/1572	386/523	V/M	Gtg/Atg	COSM4656338	1		1	NPEPL1	HGNC	HGNC:16244	protein_coding	YES	CCDS46621.1	ENSP00000348395	Q8NDH3		UPI000036789E	NM_024663.3	tolerated(0.07)		10/12		hmmpanther:PTHR11963:SF4,hmmpanther:PTHR11963,Pfam_domain:PF00883,Gene3D:3.40.630.10,Superfamily_domains:SSF53187											1						MODERATE	1	SNV	1		1	1										PASS		rs1433511548	.												A	3	1	52	58713947	58713947	G	A	1	0	0	0	0	1	0	0	0	10622	1261	44	3		3	NPEPL1	20	58713947	Missense_Mutation	SNP	G	C3N-00550_TP		58713947	5730220	44	16677											
PATZ1	0	.	GRCh38	chr22	31327310	31327310	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgagcatttctggccttCtacgaaaaaacaaaatatag	16	11	7	7	1	2	1	0	1	2	0	2	2	2	1	1	1	3	1	1	1	8	5	novel		C3N-00550_TP	C3N-00550_NB	C	C																c.1646-1G>T		p.X549_splice	ENST00000266269		107	101	6	131	130	1	varscan-mutect	PATZ1,splice_acceptor_variant,,ENST00000266269,NM_014323.2;PATZ1,splice_acceptor_variant,,ENST00000405309,NM_032052.1;PATZ1,splice_acceptor_variant,,ENST00000351933,NM_032050.1;PIK3IP1-AS1,intron_variant,,ENST00000440456,;	A	ENST00000266269	Transcript	splice_acceptor_variant	-/3781	1646/2064	549/687				1		-1	PATZ1	HGNC	HGNC:13071	protein_coding	YES	CCDS13894.1	ENSP00000266269	Q9HBE1	A0A024R1M5	UPI000006D7C4	NM_014323.2				4/4																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	52	31327310	31327310	C	A	1	0	0	0	0	0	0	1	0	11561	927	32	2		2	PATZ1	22	31327310	Splice_Site	SNP	C	C3N-00550_TP		31327310	19491158	45	16678											
TENM1	0	.	GRCh38	chrX	124653762	124653762	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcaacttctccagtgtctAtcgcccgtcccttctgaaac	7	13	6	15	2	4	1	1	1	3	0	7	1	5	1	3	0	2	0	3	0	3	3	novel		C3N-00550_TP	C3N-00550_NB	A	A																c.1190T>G	p.Ile397Arg	p.I397R	ENST00000422452	7/32	212	184	28	225	225	0	strelka-varscan-mutect	TENM1,missense_variant,p.Ile397Arg,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,missense_variant,p.Ile397Arg,ENST00000371130,NM_014253.3;	C	ENST00000422452	Transcript	missense_variant	1254/12891	1190/8199	397/2732	I/R	aTa/aGa		1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1	deleterious_low_confidence(0)		7/32		hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	52	124653762	124653762	A	C	1	0	0	0	0	1	0	0	0	16171	449	16	5		5	TENM1	23	124653762	Missense_Mutation	SNP	A	C3N-00550_TP		124653762	31387133	46	16679											
AGRN	0	.	GRCh38	chr1	1043333	1043333	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtgaatgcctgcaggcGtgctcgagcctctacgatcc	6	9	13	13	4	1	1	0	1	1	0	3	3	2	1	3	1	5	2	3	1	2	1	rs756019159		C3N-00551_TP	C3N-00551_NB	G	G																c.1479G>T	p.=	p.A493A	ENST00000379370	8/36	444	327	117	395	395	0	strelka-varscan-mutect	AGRN,synonymous_variant,p.=,ENST00000620552,NM_001305275.1;AGRN,synonymous_variant,p.=,ENST00000379370,NM_198576.3;AGRN,downstream_gene_variant,,ENST00000477585,;AGRN,downstream_gene_variant,,ENST00000469403,;AGRN,upstream_gene_variant,,ENST00000479707,;AGRN,upstream_gene_variant,,ENST00000466223,;AGRN,upstream_gene_variant,,ENST00000478677,;	T	ENST00000379370	Transcript	synonymous_variant	1529/7323	1479/6138	493/2045	A	gcG/gcT	rs756019159	1		1	AGRN	HGNC	HGNC:329	protein_coding	YES	CCDS30551.1	ENSP00000368678	O00468		UPI00001D7C8B	NM_198576.3			8/36		Gene3D:3.30.60.30,PROSITE_profiles:PS51465,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF288,SMART_domains:SM00280,Superfamily_domains:SSF100895																	LOW	1	SNV	1			1										PASS		rs756019159	.												T	2	4	53	1043333	1043333	G	T	1	0	0	0	0	0	0	0	1	476	1132	40	1		1	AGRN	1	1043333	Silent	SNP	G	C3N-00551_TP		1043333	247913089	1	16680											
TNFRSF4	0	.	GRCh38	chr1	1212698	1212698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgccctggagggcaggggGcacagtctgcaacaaagata	12	5	15	9	0	1	1	0	0	1	1	1	2	1	2	1	4	3	3	1	4	3	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.377C>T	p.Ala126Val	p.A126V	ENST00000379236	4/7	45	39	6	45	45	0	strelka-varscan-mutect	TNFRSF4,missense_variant,p.Ala126Val,ENST00000379236,NM_003327.3;SDF4,downstream_gene_variant,,ENST00000263741,NM_016547.2;SDF4,downstream_gene_variant,,ENST00000360001,NM_016176.3;TNFRSF4,non_coding_transcript_exon_variant,,ENST00000453580,;TNFRSF4,non_coding_transcript_exon_variant,,ENST00000497869,;SDF4,downstream_gene_variant,,ENST00000494748,;SDF4,downstream_gene_variant,,ENST00000478938,;SDF4,downstream_gene_variant,,ENST00000465727,;	A	ENST00000379236	Transcript	missense_variant	382/1068	377/834	126/277	A/V	gCc/gTc		1		-1	TNFRSF4	HGNC	HGNC:11918	protein_coding	YES	CCDS11.1	ENSP00000368538	P43489		UPI00001370E5	NM_003327.3	tolerated(0.45)		4/7		Gene3D:2.10.50.10,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF132,SMART_domains:SM01411,Superfamily_domains:SSF57586																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	1212698	1212698	G	A	1	0	0	0	0	1	0	0	0	16771	1203	42	3		3	TNFRSF4	1	1212698	Missense_Mutation	SNP	G	C3N-00551_TP	169365	1212698	247743724	2	16681											
MIB2	0	.	GRCh38	chr1	1625121	1625121	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggccacaagggcaaggtGgacctcaagtgtgtgggcga	9	6	18	8	1	1	0	1	0	0	0	1	2	1	1	2	5	0	1	2	5	3	0	rs202053540		C3N-00551_TP	C3N-00551_NB	G	G																c.1002G>T	p.=	p.V334V	ENST00000505820	6/20	153	96	57	187	186	1	strelka-varscan-mutect	MIB2,synonymous_variant,p.=,ENST00000520777,NM_001170686.1;MIB2,synonymous_variant,p.=,ENST00000504599,;MIB2,synonymous_variant,p.=,ENST00000505820,NM_080875.2;MIB2,synonymous_variant,p.=,ENST00000355826,NM_001170687.1;MIB2,synonymous_variant,p.=,ENST00000378708,;MIB2,synonymous_variant,p.=,ENST00000514234,;MIB2,intron_variant,,ENST00000518681,NM_001170688.1;MIB2,intron_variant,,ENST00000378712,NM_001170689.1;MIB2,upstream_gene_variant,,ENST00000483015,;MIB2,downstream_gene_variant,,ENST00000510793,;MIB2,downstream_gene_variant,,ENST00000503789,;MIB2,downstream_gene_variant,,ENST00000512004,;MIB2,synonymous_variant,p.=,ENST00000487053,;MIB2,synonymous_variant,p.=,ENST00000506488,;MIB2,3_prime_UTR_variant,,ENST00000489635,;MIB2,non_coding_transcript_exon_variant,,ENST00000479659,;MIB2,non_coding_transcript_exon_variant,,ENST00000511502,;MIB2,non_coding_transcript_exon_variant,,ENST00000507229,;MIB2,non_coding_transcript_exon_variant,,ENST00000467597,;MIB2,non_coding_transcript_exon_variant,,ENST00000508148,;MIB2,upstream_gene_variant,,ENST00000473511,;MIB2,upstream_gene_variant,,ENST00000464570,;MIB2,upstream_gene_variant,,ENST00000505370,;MIB2,downstream_gene_variant,,ENST00000502470,;MIB2,downstream_gene_variant,,ENST00000514363,;MIB2,upstream_gene_variant,,ENST00000511910,;MIB2,upstream_gene_variant,,ENST00000486072,;MIB2,downstream_gene_variant,,ENST00000508455,;MIB2,upstream_gene_variant,,ENST00000470373,;	T	ENST00000505820	Transcript	synonymous_variant	1019/3305	1002/3213	334/1070	V	gtG/gtT	rs202053540	1		1	MIB2	HGNC	HGNC:30577	protein_coding	YES	CCDS41224.2	ENSP00000426103	Q96AX9		UPI0001C0B37A	NM_080875.2			6/20		PROSITE_profiles:PS51416,hmmpanther:PTHR24202:SF4,hmmpanther:PTHR24202,Pfam_domain:PF06701,Superfamily_domains:0053823																	LOW	1	SNV	1			1										PASS		rs202053540	.												T	2	4	53	1625121	1625121	G	T	1	0	0	0	0	0	0	0	1	9524	1335	47	2		2	MIB2	1	1625121	Silent	SNP	G	C3N-00551_TP	412423	1625121	247331301	3	16682											
ARHGEF16	0	.	GRCh38	chr1	3477873	3477873	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccggctctgtccccccAgtccctcccactgatctctg	3	10	6	22	1	2	1	0	1	2	0	7	1	6	1	7	1	0	1	7	1	0	0	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.1474-2A>C		p.X492_splice	ENST00000378378		113	101	12	128	126	2	strelka-varscan-mutect	ARHGEF16,splice_acceptor_variant,,ENST00000378378,NM_014448.3;ARHGEF16,splice_acceptor_variant,,ENST00000378371,;ARHGEF16,splice_acceptor_variant,,ENST00000378373,;ARHGEF16,downstream_gene_variant,,ENST00000445297,;ARHGEF16,downstream_gene_variant,,ENST00000418137,;ARHGEF16,splice_acceptor_variant,,ENST00000485984,;ARHGEF16,downstream_gene_variant,,ENST00000464620,;	C	ENST00000378378	Transcript	splice_acceptor_variant	-/3061	1474/2130	492/709				1		1	ARHGEF16	HGNC	HGNC:15515	protein_coding	YES	CCDS46.2	ENSP00000367629	Q5VV41		UPI00002039A3	NM_014448.3				10/14																		HIGH	1	SNV	2			1										PASS		rs1334091289	.												C	5	2	53	3477873	3477873	A	C	1	0	0	0	0	0	0	1	0	1029	202	7	5		5	ARHGEF16	1	3477873	Splice_Site	SNP	A	C3N-00551_TP	1852752	3477873	245478549	4	16683											
CAMTA1	0	.	GRCh38	chr1	7677692	7677692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacaaagcccgggctctgcCcacgctcccttcctcccagc	6	7	8	20	2	1	0	0	0	1	0	4	0	4	0	5	1	4	3	5	1	2	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2873C>A	p.Pro958His	p.P958H	ENST00000303635	11/23	136	93	43	170	170	0	strelka-varscan-mutect	CAMTA1,missense_variant,p.Pro958His,ENST00000303635,NM_015215.3;	A	ENST00000303635	Transcript	missense_variant	3080/8444	2873/5022	958/1673	P/H	cCc/cAc		1		1	CAMTA1	HGNC	HGNC:18806	protein_coding	YES	CCDS30576.1	ENSP00000306522	Q9Y6Y1		UPI00001C1D72	NM_015215.3	deleterious(0.01)		11/23		hmmpanther:PTHR23335:SF11,hmmpanther:PTHR23335																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	7677692	7677692	C	A	1	0	0	0	0	1	0	0	0	2306	623	22	2		2	CAMTA1	1	7677692	Missense_Mutation	SNP	C	C3N-00551_TP	4199819	7677692	241278730	5	16684											
RSC1A1	0	.	GRCh38	chr1	15660124	15660124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgcttcctcagcagacCatgctccaacagaccagagt	12	8	7	14	0	2	3	2	0	0	3	4	3	4	3	4	0	4	3	4	0	1	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.256C>T	p.His86Tyr	p.H86Y	ENST00000345034	1/1	147	113	34	242	242	0	strelka-varscan-mutect	RSC1A1,missense_variant,p.His86Tyr,ENST00000345034,NM_006511.1;DDI2,3_prime_UTR_variant,,ENST00000480945,NM_032341.4;DDI2,3_prime_UTR_variant,,ENST00000320153,;DDI2,downstream_gene_variant,,ENST00000548451,;	T	ENST00000345034	Transcript	missense_variant	256/1854	256/1854	86/617	H/Y	Cat/Tat		1		1	RSC1A1	HGNC	HGNC:10458	protein_coding	YES	CCDS161.1	ENSP00000341963	Q92681		UPI00000715AC	NM_006511.1	tolerated(0.19)		1/1		hmmpanther:PTHR15397,hmmpanther:PTHR15397:SF2																	MODERATE		SNV				1										PASS		.	.												T	3	4	53	15660124	15660124	C	T	1	0	0	0	0	1	0	0	0	13954	594	21	3		3	RSC1A1	1	15660124	Missense_Mutation	SNP	C	C3N-00551_TP	7982432	15660124	233296298	6	16685											
CROCC	0	.	GRCh38	chr1	16930559	16930559	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacgctgccgcaaggagctgGagcaccgggaggcggcgtgg	7	3	19	12	5	0	0	0	0	0	0	0	3	0	3	2	6	3	4	2	6	1	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.814G>T	p.Glu272Ter	p.E272*	ENST00000375541	7/37	256	233	23	252	252	0	strelka-varscan-mutect	CROCC,stop_gained,p.Glu272Ter,ENST00000375541,NM_014675.4;CROCC,stop_gained,p.Glu132Ter,ENST00000445545,;CROCC,stop_gained,p.Glu166Ter,ENST00000467938,;CROCC,non_coding_transcript_exon_variant,,ENST00000466256,;CROCC,non_coding_transcript_exon_variant,,ENST00000492631,;	T	ENST00000375541	Transcript	stop_gained	883/6656	814/6054	272/2017	E/*	Gag/Tag		1		1	CROCC	HGNC	HGNC:21299	protein_coding	YES	CCDS30616.1	ENSP00000364691	Q5TZA2		UPI000042B0BB	NM_014675.4			7/37		Pfam_domain:PF15035,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF17,Low_complexity_(Seg):seg																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	53	16930559	16930559	G	T	1	0	0	0	0	0	1	0	0	3694	1175	41	2		2	CROCC	1	16930559	Nonsense_Mutation	SNP	G	C3N-00551_TP	1270435	16930559	232025863	7	16686											
PADI2	0	.	GRCh38	chr1	17086616	17086616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccacgaagaacagcagctCcgcggagccacccgtgtact	10	6	10	15	4	0	1	0	0	0	1	2	3	2	2	4	1	5	3	4	1	3	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.739G>A	p.Glu247Lys	p.E247K	ENST00000375486	7/16	206	170	36	287	287	0	strelka-varscan-mutect	PADI2,missense_variant,p.Glu247Lys,ENST00000375486,NM_007365.2;PADI2,missense_variant,p.Glu247Lys,ENST00000375481,;PADI2,upstream_gene_variant,,ENST00000466151,;	T	ENST00000375486	Transcript	missense_variant	803/4345	739/1998	247/665	E/K	Gag/Aag		1		-1	PADI2	HGNC	HGNC:18341	protein_coding	YES	CCDS177.1	ENSP00000364635	Q9Y2J8	A0A024RA98	UPI00001314AF	NM_007365.2	tolerated(0.28)		7/16		Superfamily_domains:0044952,PD936484,Pfam_domain:PF08527,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	17086616	17086616	C	T	1	0	0	0	0	1	0	0	0	11456	864	30	3		3	PADI2	1	17086616	Missense_Mutation	SNP	C	C3N-00551_TP	156057	17086616	231869806	8	16687											
TCEA3	0	.	GRCh38	chr1	23419091	23419091	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacctgtagtagctggaTggacatctggcagctgtgca	8	9	12	12	0	1	0	0	0	1	0	1	2	1	2	3	3	3	6	3	3	2	2	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.118A>G	p.Ile40Val	p.I40V	ENST00000450454	2/11	55	43	12	42	42	0	strelka-varscan-mutect	TCEA3,missense_variant,p.Ile40Val,ENST00000450454,NM_003196.2;TCEA3,missense_variant,p.Ile40Val,ENST00000374601,;TCEA3,missense_variant,p.Ile3Val,ENST00000461794,;TCEA3,non_coding_transcript_exon_variant,,ENST00000374602,;TCEA3,upstream_gene_variant,,ENST00000492271,;	C	ENST00000450454	Transcript	missense_variant	225/1559	118/1047	40/348	I/V	Atc/Gtc		1		-1	TCEA3	HGNC	HGNC:11615	protein_coding	YES	CCDS44086.1	ENSP00000406293	O75764		UPI0000136AC2	NM_003196.2	tolerated(0.09)		2/11		Gene3D:1.20.930.10,Pfam_domain:PF08711,PIRSF_domain:PIRSF006704,PROSITE_profiles:PS51319,hmmpanther:PTHR11477,hmmpanther:PTHR11477:SF4,SMART_domains:SM00509,Superfamily_domains:SSF47676,TIGRFAM_domain:TIGR01385																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	23419091	23419091	T	C	1	0	0	0	0	1	0	0	0	16076	1464	51	5		5	TCEA3	1	23419091	Missense_Mutation	SNP	T	C3N-00551_TP	6332475	23419091	225537331	9	16688											
UBXN11	0	.	GRCh38	chr1	26284452	26284452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaggggtccagtccatcctCcaggtagacctgattgcgca	9	8	12	12	1	0	2	0	1	0	1	4	3	4	2	5	3	1	2	5	3	2	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.883G>A	p.Glu295Lys	p.E295K	ENST00000374222	12/16	91	67	24	125	125	0	strelka-varscan-mutect	UBXN11,missense_variant,p.Glu175Lys,ENST00000314675,NM_001077262.1;UBXN11,missense_variant,p.Glu295Lys,ENST00000374222,;UBXN11,missense_variant,p.Glu262Lys,ENST00000374217,NM_145345.2;UBXN11,missense_variant,p.Glu295Lys,ENST00000374221,NM_183008.2;UBXN11,missense_variant,p.Glu262Lys,ENST00000357089,;UBXN11,missense_variant,p.Glu52Lys,ENST00000374223,;SH3BGRL3,downstream_gene_variant,,ENST00000270792,NM_031286.3;UBXN11,downstream_gene_variant,,ENST00000374215,;UBXN11,downstream_gene_variant,,ENST00000452980,;SH3BGRL3,downstream_gene_variant,,ENST00000319041,;UBXN11,downstream_gene_variant,,ENST00000442942,;UBXN11,non_coding_transcript_exon_variant,,ENST00000472155,;UBXN11,non_coding_transcript_exon_variant,,ENST00000475591,;UBXN11,non_coding_transcript_exon_variant,,ENST00000496466,;UBXN11,non_coding_transcript_exon_variant,,ENST00000494942,;	T	ENST00000374222	Transcript	missense_variant	1348/2043	883/1563	295/520	E/K	Gag/Aag		1		-1	UBXN11	HGNC	HGNC:30600	protein_coding	YES	CCDS41288.1	ENSP00000363339	Q5T124		UPI00004700E1		tolerated(0.07)		12/16		hmmpanther:PTHR23333:SF4,hmmpanther:PTHR23333,Pfam_domain:PF08059,Superfamily_domains:SSF102848																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	53	26284452	26284452	C	T	1	0	0	0	0	1	0	0	0	17437	864	30	3		3	UBXN11	1	26284452	Missense_Mutation	SNP	C	C3N-00551_TP	2865361	26284452	222671970	10	16689											
GPN2	0	.	GRCh38	chr1	26889857	26889857	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactccatgcagtagagcagGccgccgttgggccccaggcg	7	6	14	14	3	0	1	0	0	0	1	1	1	1	1	5	3	3	4	5	3	2	3	rs542731126		C3N-00551_TP	C3N-00551_NB	G	G																c.240C>T	p.=	p.G80G	ENST00000374135	1/5	106	75	31	117	117	0	strelka-varscan-mutect	GPN2,synonymous_variant,p.=,ENST00000374135,NM_018066.3;GPN2,intron_variant,,ENST00000431781,;GPATCH3,downstream_gene_variant,,ENST00000361720,NM_022078.2;GPN2,upstream_gene_variant,,ENST00000374133,;GPATCH3,downstream_gene_variant,,ENST00000445019,;GPATCH3,downstream_gene_variant,,ENST00000450844,;GPN2,upstream_gene_variant,,ENST00000461282,;GPN2,upstream_gene_variant,,ENST00000477418,;	A	ENST00000374135	Transcript	synonymous_variant	441/4678	240/933	80/310	G	ggC/ggT	rs542731126	1		-1	GPN2	HGNC	HGNC:25513	protein_coding	YES	CCDS289.1	ENSP00000363250	Q9H9Y4		UPI0000071F43	NM_018066.3			1/5		hmmpanther:PTHR21231:SF3,hmmpanther:PTHR21231,Gene3D:3.40.50.300,Pfam_domain:PF03029,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs542731126	.												A	2	1	53	26889857	26889857	G	A	1	0	0	0	0	0	0	0	1	6520	1190	42	3		3	GPN2	1	26889857	Silent	SNP	G	C3N-00551_TP	605405	26889857	222066565	11	16690											
SYTL1	0	.	GRCh38	chr1	27351283	27351283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctctcccgacgaccttcCgagccgcgggttactcgccc	5	7	9	20	6	1	0	0	0	1	0	4	3	2	0	6	1	2	1	6	1	1	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1190C>G	p.Pro397Arg	p.P397R	ENST00000543823	11/14	123	97	26	141	141	0	strelka-varscan-mutect	SYTL1,missense_variant,p.Pro397Arg,ENST00000543823,;SYTL1,missense_variant,p.Pro385Arg,ENST00000318074,NM_032872.2;SYTL1,missense_variant,p.Pro397Arg,ENST00000616558,NM_001193308.1;SYTL1,missense_variant,p.Pro332Arg,ENST00000618673,;MAP3K6,downstream_gene_variant,,ENST00000374040,NM_001297609.1;MAP3K6,downstream_gene_variant,,ENST00000493901,NM_004672.4;MAP3K6,downstream_gene_variant,,ENST00000357582,;MAP3K6,downstream_gene_variant,,ENST00000472410,;MAP3K6,downstream_gene_variant,,ENST00000486046,;SYTL1,downstream_gene_variant,,ENST00000473280,;SYTL1,non_coding_transcript_exon_variant,,ENST00000490170,;SYTL1,non_coding_transcript_exon_variant,,ENST00000483926,;SYTL1,non_coding_transcript_exon_variant,,ENST00000485269,;SYTL1,non_coding_transcript_exon_variant,,ENST00000496001,;SYTL1,non_coding_transcript_exon_variant,,ENST00000615284,;SYTL1,upstream_gene_variant,,ENST00000475199,;MAP3K6,downstream_gene_variant,,ENST00000470890,;	G	ENST00000543823	Transcript	missense_variant	1652/2229	1190/1689	397/562	P/R	cCg/cGg		1		1	SYTL1	HGNC	HGNC:15584	protein_coding	YES	CCDS53286.1	ENSP00000440704	Q8IYJ3		UPI0000074245		tolerated(0.1)		11/14		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF11,Gene3D:2.60.40.150,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	27351283	27351283	C	G	1	0	0	0	0	1	0	0	0	15876	652	23	4		4	SYTL1	1	27351283	Missense_Mutation	SNP	C	C3N-00551_TP	461426	27351283	221605139	12	16691											
P3H1	0	.	GRCh38	chr1	42766686	42766686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcggcgcccgaggcctgggCcgggctgggggaccagtcgg	3	3	22	13	5	0	0	0	0	0	0	1	2	0	1	4	8	0	1	4	8	0	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.286G>T	p.Ala96Ser	p.A96S	ENST00000236040	1/14	82	62	20	191	191	0	strelka-varscan-mutect	P3H1,missense_variant,p.Ala96Ser,ENST00000236040,NM_001243246.1;P3H1,missense_variant,p.Ala96Ser,ENST00000397054,NM_001146289.1;P3H1,missense_variant,p.Ala96Ser,ENST00000296388,NM_022356.3;P3H1,missense_variant,p.Ala96Ser,ENST00000372526,;C1orf50,upstream_gene_variant,,ENST00000372525,NM_024097.3;C1orf50,upstream_gene_variant,,ENST00000468913,;P3H1,non_coding_transcript_exon_variant,,ENST00000492956,;P3H1,non_coding_transcript_exon_variant,,ENST00000495874,;P3H1,non_coding_transcript_exon_variant,,ENST00000460031,;RP5-994D16.12,upstream_gene_variant,,ENST00000603943,;P3H1,upstream_gene_variant,,ENST00000463465,;RP5-994D16.12,upstream_gene_variant,,ENST00000464081,;	A	ENST00000236040	Transcript	missense_variant	327/2993	286/2415	96/804	A/S	Gcc/Tcc		1		-1	P3H1	HGNC	HGNC:19316	protein_coding	YES	CCDS57986.1	ENSP00000236040	Q32P28		UPI000013E32E	NM_001243246.1	tolerated(0.74)		1/14		hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF5,Low_complexity_(Seg):seg																	MODERATE		SNV	2			1										PASS		rs1236695594	.												A	3	1	53	42766686	42766686	C	A	1	0	0	0	0	1	0	0	0	11429	739	26	2		2	P3H1	1	42766686	Missense_Mutation	SNP	C	C3N-00551_TP	15415403	42766686	206189736	13	16692											
PATJ	0	.	GRCh38	chr1	62084631	62084631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtctcagcattgtgggaGgaaaagacacacccttggta	11	10	12	8	0	1	1	1	0	1	1	2	3	1	3	1	4	1	2	1	4	3	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.4360G>A	p.Gly1454Arg	p.G1454R	ENST00000371158	33/43	129	120	9	290	289	1	strelka-varscan-mutect	PATJ,missense_variant,p.Gly1454Arg,ENST00000371158,NM_176877.2;PATJ,missense_variant,p.Gly238Arg,ENST00000635137,;PATJ,missense_variant,p.Gly238Arg,ENST00000307297,;PATJ,intron_variant,,ENST00000613764,;PATJ,missense_variant,p.Gly913Arg,ENST00000484937,;PATJ,3_prime_UTR_variant,,ENST00000635023,;PATJ,non_coding_transcript_exon_variant,,ENST00000484562,;PATJ,non_coding_transcript_exon_variant,,ENST00000459752,;PATJ,non_coding_transcript_exon_variant,,ENST00000635214,;	A	ENST00000371158	Transcript	missense_variant	4474/8505	4360/5406	1454/1801	G/R	Gga/Aga		1		1	PATJ	HGNC	HGNC:28881	protein_coding	YES	CCDS617.2	ENSP00000360200	Q8NI35		UPI0000204487	NM_176877.2	tolerated(0.07)		33/43		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	53	62084631	62084631	G	A	1	0	0	0	0	1	0	0	0	11558	1001	35	3		3	PATJ	1	62084631	Missense_Mutation	SNP	G	C3N-00551_TP	19317945	62084631	186871791	14	16693											
L1TD1	0	.	GRCh38	chr1	62206865	62206865	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaaaatgacctaaaagcAgttttagggggaaaagctac	17	9	9	6	0	0	1	0	1	0	0	0	2	0	2	1	2	3	3	1	2	9	5	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.237A>T	p.=	p.A79A	ENST00000498273	3/4	136	102	34	144	144	0	strelka-varscan-mutect	L1TD1,synonymous_variant,p.=,ENST00000498273,NM_001164835.1,NM_019079.4;Y_RNA,upstream_gene_variant,,ENST00000363304,;RP5-1155K23.4,downstream_gene_variant,,ENST00000450606,;	T	ENST00000498273	Transcript	synonymous_variant	532/3849	237/2598	79/865	A	gcA/gcT		1		1	L1TD1	HGNC	HGNC:25595	protein_coding	YES	CCDS619.1	ENSP00000419901	Q5T7N2		UPI000013E18E	NM_001164835.1,NM_019079.4			3/4																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	62206865	62206865	A	T	1	0	0	0	0	0	0	0	1	8490	175	7	4		4	L1TD1	1	62206865	Silent	SNP	A	C3N-00551_TP	122234	62206865	186749557	15	16694											
KANK4	0	.	GRCh38	chr1	62268417	62268417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgcttgtgatctgggcCgtcacacttcttctctgcct	5	14	9	13	1	4	1	1	1	3	0	5	2	4	1	2	1	2	1	2	1	0	3	rs17123306		C3N-00551_TP	C3N-00551_NB	C	C																c.2101G>T	p.Gly701Cys	p.G701C	ENST00000371153	5/10	114	84	30	180	180	0	strelka-varscan-mutect	KANK4,missense_variant,p.Gly701Cys,ENST00000371153,NM_181712.4;KANK4,missense_variant,p.Gly57Cys,ENST00000371150,;KANK4,missense_variant,p.Gly73Cys,ENST00000354381,;KANK4,upstream_gene_variant,,ENST00000317477,;	A	ENST00000371153	Transcript	missense_variant	2480/4665	2101/2988	701/995	G/C	Ggc/Tgc	rs17123306	1		-1	KANK4	HGNC	HGNC:27263	protein_coding	YES	CCDS620.1	ENSP00000360195	Q5T7N3		UPI000022AE73	NM_181712.4	tolerated(0.12)		5/10		hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF24																	MODERATE	1	SNV	1			1										PASS		rs17123306	.												A	3	1	53	62268417	62268417	C	A	1	0	0	0	0	1	0	0	0	7888	652	23	1		1	KANK4	1	62268417	Missense_Mutation	SNP	C	C3N-00551_TP	61552	62268417	186688005	16	16695											
DOCK7	0	.	GRCh38	chr1	62474078	62474078	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaaaacctgggcaactTccaaaggcccctgcaaaata	17	5	7	12	0	0	1	0	0	0	1	1	1	1	1	4	2	3	2	4	2	7	2	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.6083A>T	p.Glu2028Val	p.E2028V	ENST00000454575	47/49	168	125	43	198	198	0	strelka-varscan-mutect	DOCK7,missense_variant,p.Glu2030Val,ENST00000251157,;DOCK7,missense_variant,p.Glu2028Val,ENST00000454575,NM_001271999.1;DOCK7,missense_variant,p.Glu2008Val,ENST00000340370,NM_033407.3;DOCK7,missense_variant,p.Glu2039Val,ENST00000635253,;DOCK7,missense_variant,p.Glu1999Val,ENST00000634264,NM_001272000.1;DOCK7,missense_variant,p.Glu1997Val,ENST00000635123,NM_001272001.1;DOCK7,missense_variant,p.Glu1128Val,ENST00000637255,;DOCK7,non_coding_transcript_exon_variant,,ENST00000634495,;DOCK7,downstream_gene_variant,,ENST00000637839,;DOCK7,downstream_gene_variant,,ENST00000637487,;DOCK7,downstream_gene_variant,,ENST00000636370,;DOCK7,upstream_gene_variant,,ENST00000637306,;DOCK7,downstream_gene_variant,,ENST00000638042,;DOCK7,non_coding_transcript_exon_variant,,ENST00000635983,;DOCK7,non_coding_transcript_exon_variant,,ENST00000489185,;DOCK7,downstream_gene_variant,,ENST00000467758,;DOCK7,downstream_gene_variant,,ENST00000635088,;	A	ENST00000454575	Transcript	missense_variant	6094/6985	6083/6390	2028/2129	E/V	gAa/gTa		1		-1	DOCK7	HGNC	HGNC:19190	protein_coding	YES	CCDS60156.1	ENSP00000413583	Q96N67	H0Y7L2	UPI0000E45660	NM_001271999.1	deleterious(0)		47/49		PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317,Pfam_domain:PF06920																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	62474078	62474078	T	A	1	0	0	0	0	1	0	0	0	4507	1783	62	4		4	DOCK7	1	62474078	Missense_Mutation	SNP	T	C3N-00551_TP	205661	62474078	186482344	17	16696											
ROR1	0	.	GRCh38	chr1	64049745	64049745	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaccacgtctctgggccAgacagcagaactgcactgca	11	6	9	15	1	2	2	1	0	1	2	3	2	2	2	2	1	4	3	2	1	1	0	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.218A>T	p.Gln73Leu	p.Q73L	ENST00000371079	3/9	215	158	57	242	242	0	strelka-varscan-mutect	ROR1,missense_variant,p.Gln73Leu,ENST00000371079,NM_005012.3;ROR1,missense_variant,p.Gln18Leu,ENST00000545203,;ROR1,missense_variant,p.Gln73Leu,ENST00000371080,NM_001083592.1;ROR1,non_coding_transcript_exon_variant,,ENST00000482426,;	T	ENST00000371079	Transcript	missense_variant	593/5832	218/2814	73/937	Q/L	cAg/cTg		1		1	ROR1	HGNC	HGNC:10256	protein_coding	YES	CCDS626.1	ENSP00000360120	Q01973		UPI00001AF82C	NM_005012.3	deleterious(0)		3/9		PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF134,Pfam_domain:PF07679,PIRSF_domain:PIRSF000624,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	64049745	64049745	A	T	1	0	0	0	0	1	0	0	0	13703	188	7	4		4	ROR1	1	64049745	Missense_Mutation	SNP	A	C3N-00551_TP	1575667	64049745	184906677	18	16697											
C1orf141	0	.	GRCh38	chr1	67093282	67093282	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatagagtgtattccaagatCtgttttctagtgtctgctta	9	18	8	6	0	3	2	0	0	3	2	4	2	4	2	1	0	1	3	1	0	6	8	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.926G>C	p.Arg309Thr	p.R309T	ENST00000371007	8/8	212	167	45	223	223	0	strelka-varscan-mutect	C1orf141,missense_variant,p.Arg309Thr,ENST00000371007,NM_001276351.1;C1orf141,missense_variant,p.Arg309Thr,ENST00000371006,;C1orf141,3_prime_UTR_variant,,ENST00000621590,;C1orf141,3_prime_UTR_variant,,ENST00000475209,NM_001276352.1;C1orf141,downstream_gene_variant,,ENST00000448166,;C1orf141,downstream_gene_variant,,ENST00000603691,;C1orf141,3_prime_UTR_variant,,ENST00000544837,;C1orf141,non_coding_transcript_exon_variant,,ENST00000371004,;	G	ENST00000371007	Transcript	missense_variant	1036/2153	926/1203	309/400	R/T	aGa/aCa		1		-1	C1orf141	HGNC	HGNC:32044	protein_coding	YES	CCDS30745.1	ENSP00000360046	Q5JVX7		UPI0000470AFA	NM_001276351.1	tolerated(0.17)		8/8		hmmpanther:PTHR36873,Pfam_domain:PF15078																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	53	67093282	67093282	C	G	1	0	0	0	0	1	0	0	0	1966	913	32	4		4	C1orf141	1	67093282	Missense_Mutation	SNP	C	C3N-00551_TP	3043537	67093282	181863140	19	16698											
CTH	0	.	GRCh38	chr1	70411552	70411552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatctcactgtccaccaCgttcaagcaaggggcgcctg	8	7	9	17	2	2	0	2	0	1	0	4	0	3	0	5	2	1	2	5	2	2	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.137C>A	p.Thr46Lys	p.T46K	ENST00000370938	1/12	154	121	33	194	194	0	strelka-varscan-mutect	CTH,missense_variant,p.Thr46Lys,ENST00000411986,NM_001190463.1;CTH,missense_variant,p.Thr46Lys,ENST00000370938,NM_001902.5;CTH,missense_variant,p.Thr46Lys,ENST00000346806,NM_153742.4;CTH,non_coding_transcript_exon_variant,,ENST00000464926,;	A	ENST00000370938	Transcript	missense_variant	281/1805	137/1218	46/405	T/K	aCg/aAg		1		1	CTH	HGNC	HGNC:2501	protein_coding	YES	CCDS650.1	ENSP00000359976	P32929		UPI00001275DE	NM_001902.5	deleterious(0)		1/12		Gene3D:3.40.640.10,Pfam_domain:PF01053,PIRSF_domain:PIRSF001434,hmmpanther:PTHR11808,hmmpanther:PTHR11808:SF15,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	70411552	70411552	C	A	1	0	0	0	0	1	0	0	0	3817	536	19	1		1	CTH	1	70411552	Missense_Mutation	SNP	C	C3N-00551_TP	3318270	70411552	178544870	20	16699											
TMED5	0	.	GRCh38	chr1	93156041	93156041	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaacaaacttaccaagaTgcagtcttatttgcacatct	16	12	4	9	0	2	1	0	0	2	1	2	1	2	1	1	0	5	2	1	0	6	4	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.515A>G	p.His172Arg	p.H172R	ENST00000479918	4/5	41	37	4	26	26	0	strelka-mutect	TMED5,missense_variant,p.His172Arg,ENST00000479918,NM_001167830.1;TMED5,3_prime_UTR_variant,,ENST00000370280,;TMED5,intron_variant,,ENST00000370282,NM_016040.4;TMED5,intron_variant,,ENST00000483033,;TMED5,intron_variant,,ENST00000370290,;	C	ENST00000479918	Transcript	missense_variant	634/1296	515/582	172/193	H/R	cAt/cGt		1		-1	TMED5	HGNC	HGNC:24251	protein_coding		CCDS53342.1	ENSP00000418992	Q9Y3A6		UPI0000470A98	NM_001167830.1	tolerated(0.09)		4/5		SMART_domains:SM01190																	MODERATE		SNV	3			1										PASS		.	.												C	3	2	53	93156041	93156041	T	C	1	0	0	0	0	1	0	0	0	16452	1478	51	5		5	TMED5	1	93156041	Missense_Mutation	SNP	T	C3N-00551_TP	22744489	93156041	155800381	21	16700											
COL11A1	0	.	GRCh38	chr1	102978914	102978914	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgaacctcgaggaccCtgcagatgagaacaaaagat	14	7	9	11	1	1	4	0	2	1	3	2	7	1	5	3	1	3	1	3	1	4	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2656-1G>T		p.X886_splice	ENST00000370096		486	455	31	536	536	0	strelka-varscan-mutect	COL11A1,splice_acceptor_variant,,ENST00000358392,NM_080629.2;COL11A1,splice_acceptor_variant,,ENST00000370096,NM_001854.3;COL11A1,splice_acceptor_variant,,ENST00000353414,NM_001190709.1;COL11A1,splice_acceptor_variant,,ENST00000512756,NM_080630.3;COL11A1,splice_acceptor_variant,,ENST00000635193,;	A	ENST00000370096	Transcript	splice_acceptor_variant	-/7286	2656/5421	886/1806				1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3				33/66																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	53	102978914	102978914	C	A	1	0	0	0	0	0	0	1	0	3455	695	24	2		2	COL11A1	1	102978914	Splice_Site	SNP	C	C3N-00551_TP	9822873	102978914	145977508	22	16701											
SORT1	0	.	GRCh38	chr1	109340792	109340792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtaaagtccgtctctccgCctgtggtagtgtagagatgt	7	13	13	8	2	1	1	0	0	1	1	4	2	3	1	3	2	0	3	3	2	4	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1196G>A	p.Gly399Asp	p.G399D	ENST00000256637	10/20	185	170	15	265	265	0	strelka-varscan-mutect	SORT1,missense_variant,p.Gly399Asp,ENST00000256637,NM_002959.5;SORT1,missense_variant,p.Gly262Asp,ENST00000538502,NM_001205228.1;SORT1,upstream_gene_variant,,ENST00000466471,;	T	ENST00000256637	Transcript	missense_variant	1255/7028	1196/2496	399/831	G/D	gGc/gAc		1		-1	SORT1	HGNC	HGNC:11186	protein_coding	YES	CCDS798.1	ENSP00000256637	Q99523		UPI0000074182	NM_002959.5	tolerated(0.13)		10/20		Gene3D:2.130.10.140,Pfam_domain:PF15902,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF23,SMART_domains:SM00602																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	109340792	109340792	C	T	1	0	0	0	0	1	0	0	0	15257	739	26	3		3	SORT1	1	109340792	Missense_Mutation	SNP	C	C3N-00551_TP	6361878	109340792	139615630	23	16702											
SPAG17	0	.	GRCh38	chr1	118023380	118023380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtccatcaaatctccactGtgaggcgttgctggcatttc	8	12	10	11	1	2	1	1	1	1	0	5	2	3	1	2	2	1	3	2	2	1	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.3993C>A	p.His1331Gln	p.H1331Q	ENST00000336338	28/49	252	229	23	235	235	0	strelka-varscan-mutect	SPAG17,missense_variant,p.His1331Gln,ENST00000336338,NM_206996.2;SPAG17,downstream_gene_variant,,ENST00000470550,;	T	ENST00000336338	Transcript	missense_variant	4059/6924	3993/6672	1331/2223	H/Q	caC/caA		1		-1	SPAG17	HGNC	HGNC:26620	protein_coding	YES	CCDS899.1	ENSP00000337804	Q6Q759		UPI00001601FD	NM_206996.2	tolerated(0.19)		28/49		hmmpanther:PTHR21963																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	118023380	118023380	G	T	1	0	0	0	0	1	0	0	0	15310	1368	48	2		2	SPAG17	1	118023380	Missense_Mutation	SNP	G	C3N-00551_TP	8682588	118023380	130933042	24	16703											
PI4KB	0	.	GRCh38	chr1	151292933	151292933	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atactgccatccaccatctgCtccaccagcagctgcagctg	9	8	7	17	0	1	0	0	0	1	0	3	0	3	0	5	0	7	5	5	0	1	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2406G>A	p.=	p.E802E	ENST00000368875	13/13	229	199	30	266	266	0	strelka-varscan-mutect	PI4KB,synonymous_variant,p.=,ENST00000368875,NM_002651.2;PI4KB,synonymous_variant,p.=,ENST00000368874,NM_001198774.1;PI4KB,synonymous_variant,p.=,ENST00000368873,;PI4KB,synonymous_variant,p.=,ENST00000368872,NM_001198773.1;PI4KB,synonymous_variant,p.=,ENST00000529142,NM_001198775.1;PI4KB,synonymous_variant,p.=,ENST00000455060,;PI4KB,3_prime_UTR_variant,,ENST00000446339,;ZNF687,downstream_gene_variant,,ENST00000324048,NM_001304763.1;ZNF687,downstream_gene_variant,,ENST00000336715,NM_001304764.1,NM_020832.2;ZNF687,downstream_gene_variant,,ENST00000426871,;PI4KB,downstream_gene_variant,,ENST00000489889,;ZNF687,downstream_gene_variant,,ENST00000436614,;ZNF687,downstream_gene_variant,,ENST00000449313,;ZNF687,downstream_gene_variant,,ENST00000459919,;	T	ENST00000368875	Transcript	synonymous_variant	2987/3983	2406/2487	802/828	E	gaG/gaA		1		-1	PI4KB	HGNC	HGNC:8984	protein_coding	YES	CCDS993.1	ENSP00000357869		A0A0B4J1S8	UPI000007161F	NM_002651.2			13/13		PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF22,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112																	LOW		SNV	5			1										PASS		.	.												T	2	4	53	151292933	151292933	C	T	1	0	0	0	0	0	0	0	1	11963	796	28	3		3	PI4KB	1	151292933	Silent	SNP	C	C3N-00551_TP	33269553	151292933	97663489	25	16704											
SPRR2A	0	.	GRCh38	chr1	153056624	153056624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggctgtggacactttggtgGtgggcagggctcagggcact	5	9	19	8	0	1	0	1	0	0	0	1	1	1	1	0	7	0	4	0	7	0	1	rs759301202		C3N-00551_TP	C3N-00551_NB	G	G																c.112C>A	p.Pro38Thr	p.P38T	ENST00000392653	2/2	83	62	21	131	131	0	strelka-varscan-mutect	SPRR2A,missense_variant,p.Pro38Thr,ENST00000392653,NM_005988.2;	T	ENST00000392653	Transcript	missense_variant	198/709	112/219	38/72	P/T	Cca/Aca	rs759301202	1		-1	SPRR2A	HGNC	HGNC:11261	protein_coding	YES	CCDS1034.1	ENSP00000376423	P35326		UPI0000135D6D	NM_005988.2	deleterious_low_confidence(0)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR23263,Pfam_domain:PF14820,Prints_domain:PR01217																	MODERATE	1	SNV	1			1										PASS		rs759301202	.												T	3	4	53	153056624	153056624	G	T	1	0	0	0	0	1	0	0	0	15452	1261	44	2		2	SPRR2A	1	153056624	Missense_Mutation	SNP	G	C3N-00551_TP	1763691	153056624	95899798	26	16705											
PRR9	0	.	GRCh38	chr1	153218328	153218328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgccaggaatcaagtCaagaaaaatgcccacagcaa	17	5	8	11	0	3	1	3	0	0	1	3	2	3	2	2	1	3	1	2	1	6	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.184C>A	p.Gln62Lys	p.Q62K	ENST00000368744	2/2	295	274	21	434	433	1	strelka-varscan-mutect	PRR9,missense_variant,p.Gln62Lys,ENST00000368744,NM_001195571.1;	A	ENST00000368744	Transcript	missense_variant	240/1229	184/351	62/116	Q/K	Caa/Aaa		1		1	PRR9	HGNC	HGNC:32057	protein_coding	YES	CCDS55639.1	ENSP00000357733	Q5T870		UPI0000038D61	NM_001195571.1	tolerated(0.17)		2/2		hmmpanther:PTHR23263:SF26,hmmpanther:PTHR23263																	MODERATE	1	SNV	5			1										PASS		rs1204270245	.												A	3	1	53	153218328	153218328	C	A	1	0	0	0	0	1	0	0	0	12746	827	29	2		2	PRR9	1	153218328	Missense_Mutation	SNP	C	C3N-00551_TP	161704	153218328	95738094	27	16706											
PBXIP1	0	.	GRCh38	chr1	154946286	154946286	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaattctggaagtgggacTtctggtgccaggcctttgag	8	12	14	7	0	2	2	0	1	2	1	2	4	2	4	2	4	1	0	2	4	3	4	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1388A>T	p.Lys463Met	p.K463M	ENST00000368463	10/11	312	248	64	320	320	0	strelka-varscan-mutect	PBXIP1,missense_variant,p.Lys463Met,ENST00000368463,NM_020524.2;PBXIP1,missense_variant,p.Lys434Met,ENST00000368465,NM_001317734.1;PBXIP1,downstream_gene_variant,,ENST00000368460,;Metazoa_SRP,downstream_gene_variant,,ENST00000600454,;PBXIP1,downstream_gene_variant,,ENST00000498553,;PBXIP1,downstream_gene_variant,,ENST00000493133,;PBXIP1,downstream_gene_variant,,ENST00000490230,;	A	ENST00000368463	Transcript	missense_variant	1460/3212	1388/2196	463/731	K/M	aAg/aTg		1		-1	PBXIP1	HGNC	HGNC:21199	protein_coding	YES	CCDS1074.1	ENSP00000357448	Q96AQ6		UPI000006FE01	NM_020524.2	deleterious(0.01)		10/11		hmmpanther:PTHR28638,hmmpanther:PTHR28638:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	154946286	154946286	T	A	1	0	0	0	0	1	0	0	0	11583	1609	56	4		4	PBXIP1	1	154946286	Missense_Mutation	SNP	T	C3N-00551_TP	1727958	154946286	94010136	28	16707											
MEF2D	0	.	GRCh38	chr1	156477160	156477160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttgccattggccacaGggaggaggccaggggaagcc	8	5	18	10	0	0	0	0	0	0	0	0	3	0	3	4	7	2	2	4	7	1	2	rs781562967		C3N-00551_TP	C3N-00551_NB	G	G																c.707C>T	p.Pro236Leu	p.P236L	ENST00000348159	7/12	117	94	23	117	117	0	strelka-varscan-mutect	MEF2D,missense_variant,p.Pro236Leu,ENST00000348159,NM_005920.3;MEF2D,missense_variant,p.Pro235Leu,ENST00000464356,;MEF2D,missense_variant,p.Pro236Leu,ENST00000360595,NM_001271629.1;MEF2D,3_prime_UTR_variant,,ENST00000368240,;MEF2D,3_prime_UTR_variant,,ENST00000475587,;MEF2D,non_coding_transcript_exon_variant,,ENST00000493077,;	A	ENST00000348159	Transcript	missense_variant	1188/5965	707/1566	236/521	P/L	cCt/cTt	rs781562967,COSM1214872	1		-1	MEF2D	HGNC	HGNC:6997	protein_coding	YES	CCDS1143.1	ENSP00000271555	Q14814		UPI000012EEB6	NM_005920.3	tolerated(0.08)		7/12		hmmpanther:PTHR11945:SF23,hmmpanther:PTHR11945											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs781562967	.												A	3	1	53	156477160	156477160	G	A	1	0	0	0	0	1	0	0	0	9398	1000	35	3		3	MEF2D	1	156477160	Missense_Mutation	SNP	G	C3N-00551_TP	1530874	156477160	92479262	29	16708											
INSRR	0	.	GRCh38	chr1	156851290	156851290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcagaggcctaacccttacCcatccaccatggcgtctccc	8	8	7	18	1	2	1	1	0	1	1	4	1	3	1	6	2	2	0	6	2	2	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1229G>C	p.Gly410Ala	p.G410A	ENST00000368195	5/22	536	430	106	560	560	0	strelka-varscan-mutect	INSRR,missense_variant,p.Gly410Ala,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;	G	ENST00000368195	Transcript	missense_variant,splice_region_variant	1626/5101	1229/3894	410/1297	G/A	gGg/gCg		1		-1	INSRR	HGNC	HGNC:6093	protein_coding	YES	CCDS1160.1	ENSP00000357178	P14616		UPI000012D8BD	NM_014215.2	deleterious(0.03)		5/22		Pfam_domain:PF01030,PIRSF_domain:PIRSF000620,Gene3D:3.80.20.20,Superfamily_domains:SSF52058																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	53	156851290	156851290	C	G	1	0	0	0	0	1	0	0	0	7676	637	22	4		4	INSRR	1	156851290	Missense_Mutation	SNP	C	C3N-00551_TP	374130	156851290	92105132	30	16709											
CD1B	0	.	GRCh38	chr1	158330988	158330988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatccaaccagcctgagcCttgagtttgtgcccaggtac	9	10	9	13	0	1	2	1	2	0	0	2	2	2	2	5	1	5	2	5	1	2	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.136G>T	p.Gly46Cys	p.G46C	ENST00000368168	2/6	198	161	37	171	171	0	strelka-varscan-mutect	CD1B,missense_variant,p.Gly46Cys,ENST00000368168,NM_001764.2;CD1B,missense_variant,p.Gly14Cys,ENST00000451207,;	A	ENST00000368168	Transcript	missense_variant	244/1395	136/1002	46/333	G/C	Ggc/Tgc		1		-1	CD1B	HGNC	HGNC:1635	protein_coding	YES	CCDS1176.1	ENSP00000357150	P29016		UPI0000127333	NM_001764.2	deleterious(0.04)		2/6		hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF130,Pfam_domain:PF16497,Gene3D:3.30.500.10,Superfamily_domains:SSF54452																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	158330988	158330988	C	A	1	0	0	0	0	1	0	0	0	2678	681	24	2		2	CD1B	1	158330988	Missense_Mutation	SNP	C	C3N-00551_TP	1479698	158330988	90625434	31	16710											
CADM3	0	.	GRCh38	chr1	159199761	159199761	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttccagaccccagtccGgtgccctcctcctccagcac	5	10	6	20	1	1	1	0	0	1	1	6	1	6	1	8	1	2	1	8	1	0	2	rs753580284		C3N-00551_TP	C3N-00551_NB	G	G																c.1065G>T	p.=	p.P355P	ENST00000368124	9/10	299	235	64	244	244	0	strelka-varscan-mutect	CADM3,synonymous_variant,p.=,ENST00000368125,NM_001127173.1;CADM3,synonymous_variant,p.=,ENST00000368124,NM_021189.3;ACKR1,upstream_gene_variant,,ENST00000537147,;ACKR1,upstream_gene_variant,,ENST00000368122,NM_002036.3;CADM3,downstream_gene_variant,,ENST00000416746,;CADM3-AS1,intron_variant,,ENST00000415675,;CADM3-AS1,downstream_gene_variant,,ENST00000609696,;	T	ENST00000368124	Transcript	synonymous_variant	1222/2546	1065/1299	355/432	P	ccG/ccT	rs753580284	1		1	CADM3	HGNC	HGNC:17601	protein_coding	YES	CCDS1182.1	ENSP00000357106	Q8N126		UPI000006E8A2	NM_021189.3			9/10		Gene3D:2.60.40.10,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF57,Low_complexity_(Seg):seg,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs753580284	.												T	2	4	53	159199761	159199761	G	T	1	0	0	0	0	0	0	0	1	2258	1103	39	1		1	CADM3	1	159199761	Silent	SNP	G	C3N-00551_TP	868773	159199761	89756661	32	16711											
ITLN2	0	.	GRCh38	chr1	160945219	160945219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgagttccatatccatccCagtcaaaggcggagaagtcc	11	8	10	12	2	1	2	1	1	0	1	5	3	5	2	4	2	0	1	4	2	3	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.899G>T	p.Trp300Leu	p.W300L	ENST00000368029	8/8	74	65	9	129	129	0	strelka-varscan-mutect	ITLN2,missense_variant,p.Trp300Leu,ENST00000368029,NM_080878.2;RP11-544M22.1,intron_variant,,ENST00000356006,;ITLN2,non_coding_transcript_exon_variant,,ENST00000494442,;	A	ENST00000368029	Transcript	missense_variant	957/1151	899/978	300/325	W/L	tGg/tTg		1		-1	ITLN2	HGNC	HGNC:20599	protein_coding	YES	CCDS1212.1	ENSP00000357008	Q8WWU7		UPI0000048F3E	NM_080878.2	deleterious(0.02)		8/8		hmmpanther:PTHR16146:SF21,hmmpanther:PTHR16146																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	160945219	160945219	C	A	1	0	0	0	0	1	0	0	0	7817	595	21	2		2	ITLN2	1	160945219	Missense_Mutation	SNP	C	C3N-00551_TP	1745458	160945219	88011203	33	16712											
ADCY10	0	.	GRCh38	chr1	167860995	167860995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtctaggcctaggacattgGccatgaacatctggatggta	10	11	12	8	0	2	1	0	1	2	0	2	3	2	3	2	5	1	1	2	5	4	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1685C>A	p.Ala562Asp	p.A562D	ENST00000367851	15/33	363	329	34	310	310	0	strelka-varscan-mutect	ADCY10,missense_variant,p.Ala470Asp,ENST00000367848,NM_001297772.1;ADCY10,missense_variant,p.Ala562Asp,ENST00000367851,NM_018417.5;ADCY10,missense_variant,p.Ala409Asp,ENST00000545172,NM_001167749.2;	T	ENST00000367851	Transcript	missense_variant	1870/5051	1685/4833	562/1610	A/D	gCc/gAc		1		-1	ADCY10	HGNC	HGNC:21285	protein_coding	YES	CCDS1265.1	ENSP00000356825	Q96PN6	A0A0K0K1J8	UPI0000204D00	NM_018417.5	deleterious(0)		15/33		hmmpanther:PTHR16305,hmmpanther:PTHR16305:SF32,PIRSF_domain:PIRSF011131,Gene3D:3.40.50.300																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	167860995	167860995	G	T	1	0	0	0	0	1	0	0	0	337	1203	42	2		2	ADCY10	1	167860995	Missense_Mutation	SNP	G	C3N-00551_TP	6915776	167860995	81095427	34	16713											
C1orf112	0	.	GRCh38	chr1	169843680	169843680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtgtttcttaggtagcaGatcaaccttatgttcaacag	10	16	8	7	0	3	1	2	0	1	1	3	1	3	1	1	1	3	4	1	1	5	6	rs543462948		C3N-00551_TP	C3N-00551_NB	G	G																c.1855G>C	p.Asp619His	p.D619H	ENST00000286031	19/24	113	105	8	121	121	0	strelka-mutect	C1orf112,missense_variant,p.Asp619His,ENST00000286031,NM_018186.2;C1orf112,missense_variant,p.Asp619His,ENST00000359326,;C1orf112,missense_variant,p.Asp296His,ENST00000413811,;C1orf112,non_coding_transcript_exon_variant,,ENST00000498289,;C1orf112,3_prime_UTR_variant,,ENST00000459772,;	C	ENST00000286031	Transcript	missense_variant	2555/4355	1855/2562	619/853	D/H	Gat/Cat	rs543462948,COSM5643093	1		1	C1orf112	HGNC	HGNC:25565	protein_coding	YES	CCDS1285.1	ENSP00000286031	Q9NSG2	A0A024R922	UPI000006E467	NM_018186.2	deleterious(0.02)		19/24		hmmpanther:PTHR16071,Pfam_domain:PF14868											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs543462948	.												C	3	2	53	169843680	169843680	G	C	1	0	0	0	0	1	0	0	0	1959	942	33	4		4	C1orf112	1	169843680	Missense_Mutation	SNP	G	C3N-00551_TP	1982685	169843680	79112742	35	16714											
C1orf112	0	.	GRCh38	chr1	169843693	169843693	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagcagatcaaccttatgTtcaacagacattcagccttt	12	12	7	10	0	3	2	3	0	0	2	3	2	3	2	2	1	4	3	2	1	4	5	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1868T>G	p.Val623Gly	p.V623G	ENST00000286031	19/24	136	126	10	148	148	0	strelka-varscan-mutect	C1orf112,missense_variant,p.Val623Gly,ENST00000286031,NM_018186.2;C1orf112,missense_variant,p.Val623Gly,ENST00000359326,;C1orf112,missense_variant,p.Val300Gly,ENST00000413811,;C1orf112,non_coding_transcript_exon_variant,,ENST00000498289,;C1orf112,3_prime_UTR_variant,,ENST00000459772,;	G	ENST00000286031	Transcript	missense_variant	2568/4355	1868/2562	623/853	V/G	gTt/gGt		1		1	C1orf112	HGNC	HGNC:25565	protein_coding	YES	CCDS1285.1	ENSP00000286031	Q9NSG2	A0A024R922	UPI000006E467	NM_018186.2	deleterious(0)		19/24		hmmpanther:PTHR16071,Pfam_domain:PF14868																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	169843693	169843693	T	G	1	0	0	0	0	1	0	0	0	1959	1725	60	5		5	C1orf112	1	169843693	Missense_Mutation	SNP	T	C3N-00551_TP	13	169843693	79112729	36	16715											
CACNA1E	0	.	GRCh38	chr1	181784720	181784720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggagaccctagccatctggCctcacctatcccagaagatg	11	7	9	14	0	2	3	1	0	1	3	3	4	3	3	5	2	1	0	5	2	3	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.5530C>A	p.Pro1844Thr	p.P1844T	ENST00000367573	41/48	203	174	29	254	254	0	strelka-varscan-mutect	CACNA1E,missense_variant,p.Pro1825Thr,ENST00000621791,NM_001205294.1;CACNA1E,missense_variant,p.Pro1844Thr,ENST00000621551,;CACNA1E,missense_variant,p.Pro1844Thr,ENST00000367567,;CACNA1E,missense_variant,p.Pro1825Thr,ENST00000358338,;CACNA1E,missense_variant,p.Pro1844Thr,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Pro1844Thr,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Pro1843Thr,ENST00000357570,;CACNA1E,missense_variant,p.Pro1825Thr,ENST00000360108,;	A	ENST00000367573	Transcript	missense_variant	5530/7067	5530/6942	1844/2313	P/T	Cct/Act		1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1	deleterious(0)		41/48		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Pfam_domain:PF08763																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	181784720	181784720	C	A	1	0	0	0	0	1	0	0	0	2230	739	26	2		2	CACNA1E	1	181784720	Missense_Mutation	SNP	C	C3N-00551_TP	11941027	181784720	67171702	37	16716											
LAMC1	0	.	GRCh38	chr1	183142664	183142664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaatgaagccaagaagcaGgaggctgccatcatggacta	15	5	13	8	0	1	3	1	1	0	2	1	6	1	5	2	3	3	2	2	3	5	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.4704G>T	p.Gln1568His	p.Q1568H	ENST00000258341	28/28	224	169	55	239	239	0	strelka-varscan-mutect	LAMC1,missense_variant,p.Gln1568His,ENST00000258341,NM_002293.3;RP11-181K3.4,upstream_gene_variant,,ENST00000457852,;LAMC1,downstream_gene_variant,,ENST00000495918,;	T	ENST00000258341	Transcript	missense_variant	4961/7889	4704/4830	1568/1609	Q/H	caG/caT		1		1	LAMC1	HGNC	HGNC:6492	protein_coding	YES	CCDS1351.1	ENSP00000258341	P11047		UPI000013CFC7	NM_002293.3	deleterious(0)		28/28		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF270																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	183142664	183142664	G	T	1	0	0	0	0	1	0	0	0	8518	991	35	2		2	LAMC1	1	183142664	Missense_Mutation	SNP	G	C3N-00551_TP	1357944	183142664	65813758	38	16717											
F13B	0	.	GRCh38	chr1	197055840	197055840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcatagcttgccaatatcCcgtctgcaacagccccattc	9	11	6	15	1	1	0	0	0	1	0	3	0	2	0	4	0	6	3	4	0	4	5	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1229G>T	p.Gly410Val	p.G410V	ENST00000367412	8/12	280	235	45	358	358	0	strelka-varscan-mutect	F13B,missense_variant,p.Gly410Val,ENST00000367412,NM_001994.2;F13B,upstream_gene_variant,,ENST00000490002,;	A	ENST00000367412	Transcript	missense_variant	1273/2217	1229/1986	410/661	G/V	gGg/gTg		1		-1	F13B	HGNC	HGNC:3534	protein_coding	YES	CCDS1388.1	ENSP00000356382	P05160		UPI000013D8E0	NM_001994.2	tolerated(0.28)		8/12		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF314,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	197055840	197055840	C	A	1	0	0	0	0	1	0	0	0	5209	623	22	2		2	F13B	1	197055840	Missense_Mutation	SNP	C	C3N-00551_TP	13913176	197055840	51900582	39	16718											
KIF14	0	.	GRCh38	chr1	200565137	200565137	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caactcatcctcaagtcttgCtatgttggtacaaggcagta	11	12	8	10	0	3	0	2	0	1	0	4	0	4	0	1	2	3	5	1	2	6	5	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.4003G>C	p.Ala1335Pro	p.A1335P	ENST00000367350	25/30	155	141	14	176	176	0	strelka-varscan-mutect	KIF14,missense_variant,p.Ala1335Pro,ENST00000367350,NM_014875.2;KIF14,missense_variant,p.Ala1335Pro,ENST00000614960,;	G	ENST00000367350	Transcript	missense_variant	4442/7274	4003/4947	1335/1648	A/P	Gca/Cca		1		-1	KIF14	HGNC	HGNC:19181	protein_coding	YES	CCDS30963.1	ENSP00000356319	Q15058		UPI000012DDA3	NM_014875.2	tolerated(0.13)		25/30																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	200565137	200565137	C	G	1	0	0	0	0	1	0	0	0	8140	797	28	4		4	KIF14	1	200565137	Missense_Mutation	SNP	C	C3N-00551_TP	3509297	200565137	48391285	40	16719											
IGFN1	0	.	GRCh38	chr1	201210198	201210198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagattttagggatgctttaGggagttctggggaaatgggg	9	12	17	3	0	1	1	0	0	1	1	1	4	1	4	0	6	1	2	0	6	3	5	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.5305G>T	p.Gly1769Trp	p.G1769W	ENST00000335211	12/24	79	62	17	87	87	0	strelka-varscan-mutect	IGFN1,missense_variant,p.Gly1769Trp,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,upstream_gene_variant,,ENST00000473483,;IGFN1,downstream_gene_variant,,ENST00000444705,;	T	ENST00000335211	Transcript	missense_variant	5435/11810	5305/11127	1769/3708	G/W	Ggg/Tgg		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1	deleterious_low_confidence(0)		12/24																			MODERATE	1	SNV	5			1										PASS		rs1179016260	.												T	3	4	53	201210198	201210198	G	T	1	0	0	0	0	1	0	0	0	7497	1000	35	2		2	IGFN1	1	201210198	Missense_Mutation	SNP	G	C3N-00551_TP	645061	201210198	47746224	41	16720											
NFASC	0	.	GRCh38	chr1	204987418	204987418	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctctcctccttccccaagTacccagtgcccctaggcgtt	5	11	6	19	1	1	0	0	0	1	0	5	0	4	0	7	1	2	2	7	1	3	4	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.2471T>A	p.Leu824Ter	p.L824*	ENST00000339876	22/30	193	168	25	171	171	0	strelka-varscan-mutect	NFASC,stop_gained,p.Leu824Ter,ENST00000339876,NM_001005388.2;NFASC,stop_gained,p.Leu824Ter,ENST00000401399,;NFASC,stop_gained,p.Leu794Ter,ENST00000367173,;NFASC,stop_gained,p.Leu56Ter,ENST00000425360,;NFASC,missense_variant,p.Val927Glu,ENST00000539706,NM_001160332.1;NFASC,missense_variant,p.Val927Glu,ENST00000360049,NM_015090.3;NFASC,missense_variant,p.Val910Glu,ENST00000404076,;NFASC,missense_variant,p.Val927Glu,ENST00000404907,;NFASC,missense_variant,p.Val918Glu,ENST00000430393,NM_001160331.1;NFASC,missense_variant,p.Val927Glu,ENST00000513543,;NFASC,upstream_gene_variant,,ENST00000413225,;NFASC,splice_region_variant,,ENST00000404977,;NFASC,splice_region_variant,,ENST00000468328,;NFASC,non_coding_transcript_exon_variant,,ENST00000495396,;NFASC,upstream_gene_variant,,ENST00000492085,;NFASC,downstream_gene_variant,,ENST00000471392,;NFASC,splice_region_variant,,ENST00000512826,;NFASC,splice_region_variant,,ENST00000504476,;	A	ENST00000339876	Transcript	stop_gained,splice_region_variant	2799/10333	2471/3723	824/1240	L/*	tTa/tAa		1		1	NFASC	HGNC	HGNC:29866	protein_coding	YES	CCDS53460.1	ENSP00000344786	O94856		UPI0000237208	NM_001005388.2			22/30		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF715,Superfamily_domains:SSF49265																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	53	204987418	204987418	T	A	1	0	0	0	0	0	1	0	0	10396	1652	57	4		4	NFASC	1	204987418	Nonsense_Mutation	SNP	T	C3N-00551_TP	3777220	204987418	43969004	42	16721											
TMCC2	0	.	GRCh38	chr1	205269646	205269646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatgatgagtgctccagcGccagcgccagctcagccggg	7	5	15	14	4	1	2	1	2	0	0	2	3	2	2	4	1	5	2	4	1	0	0	rs531333872		C3N-00551_TP	C3N-00551_NB	G	G																c.1444G>A	p.Ala482Thr	p.A482T	ENST00000358024	3/5	322	294	28	248	248	0	strelka-varscan-mutect	TMCC2,missense_variant,p.Ala482Thr,ENST00000358024,NM_014858.3;TMCC2,missense_variant,p.Ala404Thr,ENST00000545499,NM_001242925.1;TMCC2,missense_variant,p.Ala242Thr,ENST00000329800,NM_001297613.1;TMCC2,missense_variant,p.Ala287Thr,ENST00000330675,;TMCC2,missense_variant,p.Ala257Thr,ENST00000637895,NM_001297611.1;TMCC2,non_coding_transcript_exon_variant,,ENST00000495538,;TMCC2,non_coding_transcript_exon_variant,,ENST00000481950,;TMCC2,intron_variant,,ENST00000468846,;TMCC2,downstream_gene_variant,,ENST00000367159,;	A	ENST00000358024	Transcript	missense_variant	1833/3738	1444/2130	482/709	A/T	Gcc/Acc	rs531333872	1		1	TMCC2	HGNC	HGNC:24239	protein_coding	YES	CCDS30984.1	ENSP00000350718	O75069		UPI00002056FC	NM_014858.3	tolerated(0.08)		3/5		Low_complexity_(Seg):seg,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF9,Pfam_domain:PF10267																	MODERATE	1	SNV	1			1										PASS		rs531333872	.												A	3	1	53	205269646	205269646	G	A	1	0	0	0	0	1	0	0	0	16439	1087	38	1		1	TMCC2	1	205269646	Missense_Mutation	SNP	G	C3N-00551_TP	282228	205269646	43686776	43	16722											
CR1	0	.	GRCh38	chr1	207496304	207496304	+	Frame_Shift_Del	DEL	G	G	-																															caagaagcccggagcctgtcGggccgccggcgcccggtctc																										C3N-00551_TP	C3N-00551_NB	G	G																c.39delG	p.Pro14ArgfsTer44	p.P14Rfs*44	ENST00000367049	1/47	257	219	38	410	410	0	sindel-varindel-pindel	CR1,frameshift_variant,p.Pro14ArgfsTer44,ENST00000367049,NM_000651.4;CR1,frameshift_variant,p.Pro14ArgfsTer44,ENST00000367051,;CR1,frameshift_variant,p.Pro14ArgfsTer44,ENST00000367052,;CR1,frameshift_variant,p.Pro14ArgfsTer44,ENST00000367053,;CR1,frameshift_variant,p.Pro14ArgfsTer44,ENST00000400960,NM_000573.3;CR1,upstream_gene_variant,,ENST00000529814,;CR1,non_coding_transcript_exon_variant,,ENST00000367050,;CR1,frameshift_variant,p.Pro14ArgfsTer44,ENST00000534202,;CR1,non_coding_transcript_exon_variant,,ENST00000530487,;CR1,upstream_gene_variant,,ENST00000434033,;CR1,upstream_gene_variant,,ENST00000436595,;CR1,upstream_gene_variant,,ENST00000450439,;	-	ENST00000367049	Transcript	frameshift_variant	37/7470	37/7470	13/2489	G/X	Ggg/gg	COSM5053033,COSM5053034	1		1	CR1	HGNC	HGNC:2334	protein_coding	YES	CCDS44308.1	ENSP00000356016		E9PDY4	UPI000040E8CF	NM_000651.4			1/47		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-TM											1,1						HIGH	1	deletion	5	2	1,1	1										PASS		.	.												-	7	5	53	207496304	207496304	G	-	1	0	1	0	1	0	0	0	0	3638	1116	39	0		0	CR1	1	207496304	Frame_Shift_Del	DEL	G	C3N-00551_TP	2226658	207496304	41460118	44	16723											
CENPF	0	.	GRCh38	chr1	214645558	214645558	+	Frame_Shift_Del	DEL	T	T	-																															gagcttgagtctcatcaaagTgagtgtctccattgcattca																								novel		C3N-00551_TP	C3N-00551_NB	T	T																c.5988delT	p.Ser1996ArgfsTer14	p.S1996Rfs*14	ENST00000366955	13/20	255	241	14	230	230	0	varindel-pindel	CENPF,frameshift_variant,p.Ser1996ArgfsTer14,ENST00000366955,NM_016343.3;CENPF,upstream_gene_variant,,ENST00000614578,;CENPF,upstream_gene_variant,,ENST00000467765,;	-	ENST00000366955	Transcript	frameshift_variant	6156/10307	5988/9345	1996/3114	S/X	agT/ag		1		1	CENPF	HGNC	HGNC:1857	protein_coding	YES	CCDS31023.1	ENSP00000355922	P49454		UPI00001AE985	NM_016343.3			13/20		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10473,hmmpanther:PTHR18874																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	53	214645558	214645558	T	-	1	0	1	0	1	0	0	0	0	2939	1693	59	0		0	CENPF	1	214645558	Frame_Shift_Del	DEL	T	C3N-00551_TP	7149254	214645558	34310864	45	16724											
USH2A	0	.	GRCh38	chr1	215798916	215798916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccccttacctggaaggcGattgtacaccactccttctt	7	11	9	14	1	1	0	0	0	1	0	2	2	2	1	5	3	2	1	5	3	3	5	rs200696560		C3N-00551_TP	C3N-00551_NB	G	G																c.9949C>T	p.Arg3317Cys	p.R3317C	ENST00000307340	50/72	479	450	29	539	539	0	strelka-varscan	USH2A,missense_variant,p.Arg3317Cys,ENST00000307340,NM_206933.2;	A	ENST00000307340	Transcript	missense_variant	10336/18883	9949/15609	3317/5202	R/C	Cgc/Tgc	rs200696560,COSM1931267,COSM4231346	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(0.17)		50/72		SMART_domains:SM00060											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		.	.												A	3	1	53	215798916	215798916	G	A	1	0	0	0	0	1	0	0	0	17570	1058	37	1		1	USH2A	1	215798916	Missense_Mutation	SNP	G	C3N-00551_TP	1153358	215798916	33157506	46	16725											
TMEM63A	0	.	GRCh38	chr1	225862229	225862229	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacactcactaggtggccatGgacttctcctggaaggtgac	9	10	11	11	0	2	1	1	1	1	0	3	3	2	3	2	5	1	0	2	5	3	3	rs191286059		C3N-00551_TP	C3N-00551_NB	G	G																c.1074C>A	p.=	p.S358S	ENST00000366835	13/25	147	132	15	112	112	0	strelka-varscan	TMEM63A,synonymous_variant,p.=,ENST00000366835,NM_014698.2;TMEM63A,synonymous_variant,p.=,ENST00000537914,;TMEM63A,non_coding_transcript_exon_variant,,ENST00000474478,;TMEM63A,upstream_gene_variant,,ENST00000487971,;TMEM63A,downstream_gene_variant,,ENST00000483779,;	T	ENST00000366835	Transcript	synonymous_variant	1345/4098	1074/2424	358/807	S	tcC/tcA	rs191286059	1		-1	TMEM63A	HGNC	HGNC:29118	protein_coding	YES	CCDS31042.1	ENSP00000355800	O94886	A0A024R3T3	UPI000006DE50	NM_014698.2			13/25		Gene3D:3.30.70.330,Pfam_domain:PF14703,hmmpanther:PTHR13018,hmmpanther:PTHR13018:SF24,Superfamily_domains:SSF54928																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	225862229	225862229	G	T	1	0	0	0	0	0	0	0	1	16666	1335	47	2		2	TMEM63A	1	225862229	Silent	SNP	G	C3N-00551_TP	10063313	225862229	23094193	47	16726											
SIPA1L2	0	.	GRCh38	chr1	232439493	232439493	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagcaacttttatcccCaatcttcagaagaaagagga	15	9	8	9	0	2	3	1	0	1	3	3	5	3	5	2	2	2	1	2	2	5	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.3646G>T	p.Gly1216Trp	p.G1216W	ENST00000366630	14/22	71	53	18	96	95	1	strelka-varscan	SIPA1L2,missense_variant,p.Gly1216Trp,ENST00000366630,;SIPA1L2,missense_variant,p.Gly1216Trp,ENST00000262861,NM_020808.3;SIPA1L2,missense_variant,p.Gly290Trp,ENST00000308942,;	A	ENST00000366630	Transcript	missense_variant	4005/6690	3646/5169	1216/1722	G/W	Ggg/Tgg		1		-1	SIPA1L2	HGNC	HGNC:23800	protein_coding	YES	CCDS41474.1	ENSP00000355589	Q9P2F8		UPI00001D7D6A		deleterious(0.01)		14/22		hmmpanther:PTHR15711:SF7,hmmpanther:PTHR15711																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	53	232439493	232439493	C	A	1	0	0	0	0	1	0	0	0	14593	608	21	2		2	SIPA1L2	1	232439493	Missense_Mutation	SNP	C	C3N-00551_TP	6577264	232439493	16516929	48	16727											
RGS7	0	.	GRCh38	chr1	240813653	240813653	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagtggtgtcatcggaCagccatgggttagaagggtc	11	8	15	7	1	1	2	1	0	0	2	3	3	1	3	1	4	1	1	1	4	3	1	rs775061802		C3N-00551_TP	C3N-00551_NB	C	C																c.921G>T	p.=	p.L307L	ENST00000366565	13/18	499	448	51	443	442	1	strelka-varscan-mutect	RGS7,synonymous_variant,p.=,ENST00000366565,NM_002924.5;RGS7,synonymous_variant,p.=,ENST00000366564,NM_001282778.1;RGS7,synonymous_variant,p.=,ENST00000366563,NM_001282775.1;RGS7,synonymous_variant,p.=,ENST00000348120,NM_001282773.1;RGS7,synonymous_variant,p.=,ENST00000440928,;	A	ENST00000366565	Transcript	synonymous_variant	1303/2494	921/1464	307/487	L	ctG/ctT	rs775061802	1		-1	RGS7	HGNC	HGNC:10003	protein_coding	YES	CCDS31071.1	ENSP00000355523	P49802		UPI000040E182	NM_002924.5			13/18		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF26,Pfam_domain:PF00631,Gene3D:4.10.260.10,SMART_domains:SM00224,SMART_domains:SM01224,Superfamily_domains:SSF48670																	LOW	1	SNV	1			1										PASS		rs775061802	.												A	2	1	53	240813653	240813653	C	A	1	0	0	0	0	0	0	0	1	13481	465	17	2		2	RGS7	1	240813653	Silent	SNP	C	C3N-00551_TP	8374160	240813653	8142769	49	16728											
KMO	0	.	GRCh38	chr1	241568532	241568532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagatttcttcctgttgcCtgcccagcccatgatatctg	7	13	8	13	0	2	2	0	1	2	1	3	2	3	2	4	0	3	2	4	0	2	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.842C>T	p.Pro281Leu	p.P281L	ENST00000366559	10/15	236	185	51	404	404	0	strelka-varscan-mutect	KMO,missense_variant,p.Pro281Leu,ENST00000366559,NM_003679.4;KMO,missense_variant,p.Pro281Leu,ENST00000366557,;KMO,missense_variant,p.Pro281Leu,ENST00000366558,;KMO,upstream_gene_variant,,ENST00000366555,;KMO,non_coding_transcript_exon_variant,,ENST00000431245,;KMO,downstream_gene_variant,,ENST00000477907,;	T	ENST00000366559	Transcript	missense_variant	1153/5261	842/1461	281/486	P/L	cCt/cTt		1		1	KMO	HGNC	HGNC:6381	protein_coding	YES	CCDS1618.1	ENSP00000355517	O15229		UPI000045632A	NM_003679.4	deleterious(0.01)		10/15		HAMAP:MF_01971,Pfam_domain:PF01494,hmmpanther:PTHR13789,hmmpanther:PTHR13789:SF205																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	241568532	241568532	C	T	1	0	0	0	0	1	0	0	0	8294	681	24	3		3	KMO	1	241568532	Missense_Mutation	SNP	C	C3N-00551_TP	754879	241568532	7387890	50	16729											
AKT3	0	.	GRCh38	chr1	243695636	243695636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggtaaatccacatcttGaggtttctctttatatccta	12	16	5	8	0	2	1	0	1	2	0	5	1	4	1	2	2	0	2	2	2	6	8	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.127C>A	p.Gln43Lys	p.Q43K	ENST00000263826	2/13	206	170	36	180	180	0	strelka-varscan-mutect	AKT3,missense_variant,p.Gln43Lys,ENST00000263826,NM_005465.4;AKT3,missense_variant,p.Gln43Lys,ENST00000366539,;AKT3,missense_variant,p.Gln43Lys,ENST00000336199,NM_181690.2;AKT3,missense_variant,p.Gln43Lys,ENST00000366540,NM_001206729.1;AKT3,missense_variant,p.Gln43Lys,ENST00000552631,;AKT3,non_coding_transcript_exon_variant,,ENST00000490018,;AKT3,non_coding_transcript_exon_variant,,ENST00000491219,;AKT3,non_coding_transcript_exon_variant,,ENST00000463991,;	T	ENST00000263826	Transcript	missense_variant	239/7081	127/1440	43/479	Q/K	Caa/Aaa		1		-1	AKT3	HGNC	HGNC:393	protein_coding	YES	CCDS31077.1	ENSP00000263826	Q9Y243		UPI00000335E8	NM_005465.4	tolerated(0.6)		2/13		PROSITE_profiles:PS50003,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF190,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	243695636	243695636	G	T	1	0	0	0	0	1	0	0	0	564	1299	45	2		2	AKT3	1	243695636	Missense_Mutation	SNP	G	C3N-00551_TP	2127104	243695636	5260786	51	16730											
ZNF124	0	.	GRCh38	chr1	247156576	247156576	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaaagcctttacatttttTtacatttatagggcttttct	10	21	4	6	0	1	0	0	0	1	0	1	0	1	0	1	1	3	1	1	1	6	12	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1046A>T	p.Lys349Ile	p.K349I	ENST00000543802	4/4	23	17	6	31	31	0	strelka-varscan-mutect	ZNF124,missense_variant,p.Lys287Ile,ENST00000340684,NM_003431.3,NM_001297569.1;ZNF124,missense_variant,p.Lys349Ile,ENST00000543802,NM_001297568.1;ZNF124,intron_variant,,ENST00000472531,NM_001243740.2;ZNF124,intron_variant,,ENST00000491356,NM_001297567.1;ZNF124,downstream_gene_variant,,ENST00000491848,;	A	ENST00000543802	Transcript	missense_variant	1136/1292	1046/1056	349/351	K/I	aAa/aTa		1		-1	ZNF124	HGNC	HGNC:12907	protein_coding	YES	CCDS73057.1	ENSP00000440365	Q15973		UPI000050ED7E	NM_001297568.1	deleterious(0)		4/4		Gene3D:3.30.160.60,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF136,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	247156576	247156576	T	A	1	0	0	0	0	1	0	0	0	18301	1841	64	4		4	ZNF124	1	247156576	Missense_Mutation	SNP	T	C3N-00551_TP	3460940	247156576	1799846	52	16731											
NLRP3	0	.	GRCh38	chr1	247424898	247424898	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccagaaaatcctgtttgaGgagtccgacctcaggaatca	14	8	9	10	1	2	2	2	1	0	1	4	5	4	4	4	2	1	1	4	2	4	1	rs749604905		C3N-00551_TP	C3N-00551_NB	G	G																c.1455G>A	p.=	p.E485E	ENST00000336119	3/9	339	267	72	293	293	0	strelka-varscan-mutect	NLRP3,synonymous_variant,p.=,ENST00000366497,NM_001127461.2;NLRP3,synonymous_variant,p.=,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,synonymous_variant,p.=,ENST00000366496,;NLRP3,synonymous_variant,p.=,ENST00000391828,NM_001079821.2;NLRP3,synonymous_variant,p.=,ENST00000348069,NM_183395.2;NLRP3,synonymous_variant,p.=,ENST00000391827,NM_001127462.2;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;	A	ENST00000336119	Transcript	synonymous_variant	2201/4170	1455/3111	485/1036	E	gaG/gaA	rs749604905,COSM3865046	1		1	NLRP3	HGNC	HGNC:16400	protein_coding	YES	CCDS1632.1	ENSP00000337383	Q96P20		UPI00001CE3AD	NM_004895.4,NM_001243133.1			3/9		PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4											0,1						LOW	1	SNV	1		0,1	1										PASS		rs749604905	.												A	2	1	53	247424898	247424898	G	A	1	0	0	0	0	0	0	0	1	10516	991	35	3		3	NLRP3	1	247424898	Silent	SNP	G	C3N-00551_TP	268322	247424898	1531524	53	16732											
OR6F1	0	.	GRCh38	chr1	247712710	247712710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtttgagaaccaggaaagcCcagtaagagaaagtcctggg	15	6	13	7	0	0	2	0	1	0	2	1	5	1	3	3	2	2	2	3	2	4	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.46G>T	p.Gly16Cys	p.G16C	ENST00000302084	1/1	115	89	26	84	84	0	strelka-varscan-mutect	OR6F1,missense_variant,p.Gly16Cys,ENST00000302084,NM_001005286.1;RP11-634B7.4,intron_variant,,ENST00000449298,;RP11-634B7.5,intron_variant,,ENST00000419891,;	A	ENST00000302084	Transcript	missense_variant	46/927	46/927	16/308	G/C	Ggc/Tgc		1		-1	OR6F1	HGNC	HGNC:15027	protein_coding	YES	CCDS31095.1	ENSP00000305640	Q8NGZ6	A0A126GV68	UPI0000041CD7	NM_001005286.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF12,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs1228479932	.												A	3	1	53	247712710	247712710	C	A	1	0	0	0	0	1	0	0	0	11269	623	22	2		2	OR6F1	1	247712710	Missense_Mutation	SNP	C	C3N-00551_TP	287812	247712710	1243712	54	16733											
OR1C1	0	.	GRCh38	chr1	247758237	247758237	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaggaagaagtacatagggGaatggaggtgagagtcaaag	17	6	16	2	0	1	2	1	1	0	2	1	6	1	5	0	5	1	1	0	5	7	3			C3N-00551_TP	C3N-00551_NB	G	G																c.170C>A	p.Ser57Tyr	p.S57Y	ENST00000408896	1/1	277	241	36	258	258	0	strelka-varscan-mutect	OR1C1,missense_variant,p.Ser57Tyr,ENST00000408896,NM_012353.2;	T	ENST00000408896	Transcript	missense_variant	170/945	170/945	57/314	S/Y	tCc/tAc	COSM403934	1		-1	OR1C1	HGNC	HGNC:8182	protein_coding	YES	CCDS41481.1	ENSP00000386138	Q15619	A0A126GV94	UPI000004B1DC	NM_012353.2	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF388,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	53	247758237	247758237	G	T	1	0	0	0	0	1	0	0	0	11029	1174	41	2		2	OR1C1	1	247758237	Missense_Mutation	SNP	G	C3N-00551_TP	45527	247758237	1198185	55	16734											
OR14A16	0	.	GRCh38	chr1	247815565	247815565	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcaagaagaaatacacgggGgtgtggagatgatggtccaa	14	8	14	5	1	1	4	1	1	0	3	2	5	2	4	1	4	1	0	1	4	5	2	rs372061599		C3N-00551_TP	C3N-00551_NB	G	G																c.165C>A	p.=	p.T55T	ENST00000357627	1/1	185	163	22	210	210	0	strelka-varscan-mutect	OR14A16,synonymous_variant,p.=,ENST00000357627,NM_001001966.1;	T	ENST00000357627	Transcript	synonymous_variant	165/930	165/930	55/309	T	acC/acA	rs372061599	1		-1	OR14A16	HGNC	HGNC:15022	protein_coding	YES	CCDS31097.1	ENSP00000350248	Q8NHC5		UPI0000041CE2	NM_001001966.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF352,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs372061599	.												T	2	4	53	247815565	247815565	G	T	1	0	0	0	0	0	0	0	1	11021	1219	43	2		2	OR14A16	1	247815565	Silent	SNP	G	C3N-00551_TP	57328	247815565	1140857	56	16735											
OR2L3	0	.	GRCh38	chr1	248060883	248060883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttagtcagctctccctcAttgacctaaattacatctcc	10	14	3	14	0	4	1	2	1	2	0	6	1	4	1	3	0	3	1	3	0	5	5	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.202A>G	p.Ile68Val	p.I68V	ENST00000359959	1/1	302	233	69	334	334	0	strelka-varscan-mutect	OR2L3,missense_variant,p.Ile68Val,ENST00000359959,NM_001004687.1;	G	ENST00000359959	Transcript	missense_variant	202/939	202/939	68/312	I/V	Att/Gtt		1		1	OR2L3	HGNC	HGNC:15009	protein_coding	YES	CCDS31104.1	ENSP00000353044	Q8NG85		UPI0000061EB8	NM_001004687.1	deleterious(0.05)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF166,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	53	248060883	248060883	A	G	1	0	0	0	0	1	0	0	0	11086	217	8	5		5	OR2L3	1	248060883	Missense_Mutation	SNP	A	C3N-00551_TP	245318	248060883	895539	57	16736											
OR2M5	0	.	GRCh38	chr1	248145778	248145778	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtaatgattgtttttcctGttgcaatcatcatcgcttcc	8	18	6	9	1	2	1	2	1	0	0	5	1	4	1	2	0	1	5	2	0	3	7	rs770451149		C3N-00551_TP	C3N-00551_NB	G	G																c.631G>T	p.Val211Phe	p.V211F	ENST00000366476	1/1	448	402	46	544	544	0	strelka-varscan-mutect	OR2M5,missense_variant,p.Val211Phe,ENST00000366476,NM_001004690.1;	T	ENST00000366476	Transcript	missense_variant	631/939	631/939	211/312	V/F	Gtt/Ttt	rs770451149	1		1	OR2M5	HGNC	HGNC:19576	protein_coding	YES	CCDS31105.1	ENSP00000355432	A3KFT3		UPI00001612E2	NM_001004690.1	tolerated(1)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF28,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs770451149	.												T	3	4	53	248145778	248145778	G	T	1	0	0	0	0	1	0	0	0	11091	1377	48	2		2	OR2M5	1	248145778	Missense_Mutation	SNP	G	C3N-00551_TP	84895	248145778	810644	58	16737											
OR2T6	0	.	GRCh38	chr1	248388215	248388215	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagtgatgtatgtgtgcTgcgttgcaatgctgctgatc	9	13	12	7	1	0	2	0	2	0	0	1	2	0	2	0	0	6	6	0	0	3	2	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.607T>A	p.Cys203Ser	p.C203S	ENST00000355728	1/1	260	227	33	240	240	0	strelka-varscan-mutect	OR2T6,missense_variant,p.Cys203Ser,ENST00000355728,NM_001005471.1;	A	ENST00000355728	Transcript	missense_variant	607/927	607/927	203/308	C/S	Tgc/Agc		1		1	OR2T6	HGNC	HGNC:15018	protein_coding	YES	CCDS31114.1	ENSP00000347965	Q8NHC8		UPI0000199147	NM_001005471.1	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	53	248388215	248388215	T	A	1	0	0	0	0	1	0	0	0	11106	1580	55	4		4	OR2T6	1	248388215	Missense_Mutation	SNP	T	C3N-00551_TP	242437	248388215	568207	59	16738											
OR14I1	0	.	GRCh38	chr1	248681946	248681946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcaaatggcaacatagCggtcataagacatgacagta	15	7	12	7	1	1	2	1	1	0	1	1	2	1	2	0	4	2	3	0	4	5	3	rs767063023		C3N-00551_TP	C3N-00551_NB	C	C																c.359G>T	p.Arg120Leu	p.R120L	ENST00000342623	1/1	183	156	27	212	211	1	strelka-varscan-mutect	OR14I1,missense_variant,p.Arg120Leu,ENST00000342623,NM_001004734.1;	A	ENST00000342623	Transcript	missense_variant	359/936	359/936	120/311	R/L	cGc/cTc	rs767063023,COSM322236,COSM534048	1		-1	OR14I1	HGNC	HGNC:19575	protein_coding	YES	CCDS31125.1	ENSP00000339726	A6ND48		UPI0000199BC9	NM_001004734.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF316,Superfamily_domains:SSF81321											0,1,1						MODERATE	1	SNV			0,1,1	1										PASS		rs767063023	.												A	3	1	53	248681946	248681946	C	A	1	0	0	0	0	1	0	0	0	11024	768	27	1		1	OR14I1	1	248681946	Missense_Mutation	SNP	C	C3N-00551_TP	293731	248681946	274476	60	16739											
MYT1L	0	.	GRCh38	chr2	1887487	1887487	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcacctcacagcatgcttaCgttattaagtcctttttgct	8	17	5	11	1	2	0	2	0	0	0	3	0	3	0	2	0	4	4	2	0	3	6	rs869320675		C3N-00551_TP	C3N-00551_NB	C	C																c.2642+1G>C		p.X881_splice	ENST00000399161		164	147	17	208	208	0	strelka-varscan-mutect	MYT1L,splice_donor_variant,,ENST00000399161,NM_001303052.1;MYT1L,splice_donor_variant,,ENST00000428368,NM_015025.3;MYT1L,splice_donor_variant,,ENST00000602387,;MYT1L,splice_donor_variant,,ENST00000490585,;MYT1L,splice_donor_variant,,ENST00000470954,;	G	ENST00000399161	Transcript	splice_donor_variant	-/7063	2642/3561	881/1186			rs869320675	1		-1	MYT1L	HGNC	HGNC:7623	protein_coding	YES	CCDS77378.1	ENSP00000382114	Q9UL68		UPI0000140B19	NM_001303052.1				17/24											pathogenic							HIGH	1	SNV	1		1	1										PASS		rs869320675	.												G	5	3	53	1887487	1887487	C	G	1	0	0	0	0	0	0	1	0	10106	550	19	4		4	MYT1L	2	1887487	Splice_Site	SNP	C	C3N-00551_TP		1887487	240306042	61	16740											
RNF144A	0	.	GRCh38	chr2	7030156	7030156	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctgatacactacgataagGgaccctgccggaacaagctg	12	8	10	11	2	1	1	0	1	1	0	1	4	1	3	2	2	5	1	2	2	5	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.688G>T	p.Gly230Ter	p.G230*	ENST00000320892	8/9	137	111	26	152	151	1	strelka-varscan-mutect	RNF144A,stop_gained,p.Gly230Ter,ENST00000320892,NM_014746.4;RNF144A,stop_gained,p.Gly226Ter,ENST00000432850,;RNF144A,non_coding_transcript_exon_variant,,ENST00000467276,;	T	ENST00000320892	Transcript	stop_gained	1130/5743	688/879	230/292	G/*	Gga/Tga		1		1	RNF144A	HGNC	HGNC:20457	protein_coding	YES	CCDS1657.1	ENSP00000321330	P50876		UPI00001E058A	NM_014746.4			8/9		hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF99,SMART_domains:SM00647																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	53	7030156	7030156	G	T	1	0	0	0	0	0	1	0	0	13623	1233	43	2		2	RNF144A	2	7030156	Nonsense_Mutation	SNP	G	C3N-00551_TP	5142669	7030156	235163373	62	16741											
TRIB2	0	.	GRCh38	chr2	12723463	12723463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccagactgttctaccaGattgcctcggcagtggccca	8	8	11	14	1	1	2	0	0	1	2	2	2	1	2	4	2	3	3	4	2	1	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.474G>T	p.Gln158His	p.Q158H	ENST00000155926	2/3	363	314	49	410	410	0	strelka-varscan-mutect	TRIB2,missense_variant,p.Gln158His,ENST00000155926,NM_021643.3;TRIB2,missense_variant,p.Gln22His,ENST00000381465,;TRIB2,missense_variant,p.Gln158His,ENST00000405331,;	T	ENST00000155926	Transcript	missense_variant	1893/4391	474/1032	158/343	Q/H	caG/caT		1		1	TRIB2	HGNC	HGNC:30809	protein_coding	YES	CCDS1683.1	ENSP00000155926	Q92519		UPI0000051C55	NM_021643.3	deleterious(0)		2/3		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22961,hmmpanther:PTHR22961:SF15,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	12723463	12723463	G	T	1	0	0	0	0	1	0	0	0	16972	933	33	2		2	TRIB2	2	12723463	Missense_Mutation	SNP	G	C3N-00551_TP	5693307	12723463	229470066	63	16742											
APOB	0	.	GRCh38	chr2	21011634	21011634	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatttcatttcagcatatGagcccatcatgtcatttgag	12	14	6	9	0	4	2	4	2	0	0	4	2	4	2	1	0	2	1	1	0	2	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.5234C>A	p.Ser1745Ter	p.S1745*	ENST00000233242	26/29	240	189	51	245	245	0	strelka-varscan-mutect	APOB,stop_gained,p.Ser1745Ter,ENST00000233242,NM_000384.2;	T	ENST00000233242	Transcript	stop_gained	5362/14121	5234/13692	1745/4563	S/*	tCa/tAa		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	53	21011634	21011634	G	T	1	0	0	0	0	0	1	0	0	907	1294	45	2		2	APOB	2	21011634	Nonsense_Mutation	SNP	G	C3N-00551_TP	8288171	21011634	221181895	64	16743											
ASXL2	0	.	GRCh38	chr2	25878178	25878178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttaccgtcttggcggcCtccgcccaggtcctgccctt	2	10	9	20	3	1	0	0	0	1	0	3	0	3	0	8	3	2	0	8	3	1	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.45G>C	p.Glu15Asp	p.E15D	ENST00000435504	1/13	286	259	27	346	346	0	strelka-varscan-mutect	ASXL2,missense_variant,p.Glu15Asp,ENST00000435504,NM_018263.4;ASXL2,5_prime_UTR_variant,,ENST00000336112,;	G	ENST00000435504	Transcript	missense_variant	339/12878	45/4308	15/1435	E/D	gaG/gaC		1		-1	ASXL2	HGNC	HGNC:23805	protein_coding			ENSP00000391447	Q76L83		UPI00001DFBE8	NM_018263.4	deleterious(0)		1/13		hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578,Pfam_domain:PF05066																	MODERATE		SNV	5			1										PASS		rs1179292295	.												G	3	3	53	25878178	25878178	C	G	1	0	0	0	0	1	0	0	0	1215	680	24	4		4	ASXL2	2	25878178	Missense_Mutation	SNP	C	C3N-00551_TP	4866544	25878178	216315351	65	16744											
OTOF	0	.	GRCh38	chr2	26476024	26476024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacatgtgcgctcggagctGgaacgcctgcttctctgtgg	5	11	14	11	3	1	0	0	0	1	0	3	2	1	2	1	3	5	4	1	3	2	2	rs745435855		C3N-00551_TP	C3N-00551_NB	G	G																c.2881C>A	p.Gln961Lys	p.Q961K	ENST00000272371	24/47	277	247	30	212	212	0	strelka-varscan-mutect	OTOF,missense_variant,p.Gln961Lys,ENST00000272371,NM_194248.2;OTOF,missense_variant,p.Gln961Lys,ENST00000403946,NM_001287489.1;OTOF,missense_variant,p.Gln271Lys,ENST00000402415,NM_194322.2;OTOF,missense_variant,p.Gln214Lys,ENST00000338581,NM_004802.3;OTOF,missense_variant,p.Gln214Lys,ENST00000339598,NM_194323.2;OTOF,upstream_gene_variant,,ENST00000426958,;	T	ENST00000272371	Transcript	missense_variant	3008/7156	2881/5994	961/1997	Q/K	Cag/Aag	rs745435855	1		-1	OTOF	HGNC	HGNC:8515	protein_coding	YES	CCDS1725.1	ENSP00000272371	Q9HC10		UPI000013D94D	NM_194248.2	deleterious(0.01)		24/47		PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		rs745435855	.												T	3	4	53	26476024	26476024	G	T	1	0	0	0	0	1	0	0	0	11369	1357	47	2		2	OTOF	2	26476024	Missense_Mutation	SNP	G	C3N-00551_TP	597846	26476024	215717505	66	16745											
PRR30	0	.	GRCh38	chr2	27137673	27137673	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgatgcggcggtgcccCagctggaccaccagggcctg	5	6	16	14	3	0	0	0	0	0	0	0	2	0	1	5	4	4	1	5	4	0	0			C3N-00551_TP	C3N-00551_NB	C	C																c.657G>T	p.=	p.L219L	ENST00000335524	3/3	152	139	13	148	148	0	strelka-varscan-mutect	PRR30,missense_variant,p.Gly55Trp,ENST00000432962,;PRR30,synonymous_variant,p.=,ENST00000335524,NM_178553.3;PREB,upstream_gene_variant,,ENST00000260643,NM_013388.4;PREB,upstream_gene_variant,,ENST00000406567,;PREB,upstream_gene_variant,,ENST00000416802,;PREB,upstream_gene_variant,,ENST00000468045,;PREB,upstream_gene_variant,,ENST00000444452,;PREB,upstream_gene_variant,,ENST00000474802,;	A	ENST00000335524	Transcript	synonymous_variant	1183/2008	657/1239	219/412	L	ctG/ctT	COSM1306660	1		-1	PRR30	HGNC	HGNC:28677	protein_coding	YES	CCDS1739.1	ENSP00000335017	Q53SZ7		UPI00001995FD	NM_178553.3			3/3		hmmpanther:PTHR22235:SF2,hmmpanther:PTHR22235,Pfam_domain:PF15728											1						LOW	1	SNV	1		1	1										PASS		rs1217925043	.												A	2	1	53	27137673	27137673	C	A	1	0	0	0	0	0	0	0	1	12737	581	21	2		2	PRR30	2	27137673	Silent	SNP	C	C3N-00551_TP	661649	27137673	215055856	67	16746											
C2orf16	0	.	GRCh38	chr2	27579928	27579928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctagtcctaaaataccCtatctgcctacagtgtggcc	10	11	8	12	0	2	0	0	0	2	0	3	0	3	0	4	2	3	0	4	2	6	5	rs772106641		C3N-00551_TP	C3N-00551_NB	C	C																c.3356C>A	p.Pro1119His	p.P1119H	ENST00000408964	1/1	239	215	24	245	244	1	strelka-varscan-mutect	C2orf16,missense_variant,p.Pro1119His,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271289.1,NM_001271318.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271287.1,NM_001271288.1;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000379717,;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,;	A	ENST00000408964	Transcript	missense_variant	3407/6199	3356/5955	1119/1984	P/H	cCt/cAt	rs772106641	1		1	C2orf16	HGNC	HGNC:25275	protein_coding	YES	CCDS42666.1	ENSP00000386190	Q68DN1		UPI0000D61179	NM_032266.3	deleterious(0)		1/1		hmmpanther:PTHR33888																	MODERATE		SNV				1										PASS		rs772106641	.												A	3	1	53	27579928	27579928	C	A	1	0	0	0	0	1	0	0	0	2032	681	24	2		2	C2orf16	2	27579928	Missense_Mutation	SNP	C	C3N-00551_TP	442255	27579928	214613601	68	16747											
ALK	0	.	GRCh38	chr2	29233605	29233605	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccccctcctcctccgcctCctgcccactcatgcacgctt	4	9	4	24	2	1	0	1	0	0	0	5	0	5	0	8	0	2	2	8	0	0	1	rs771130459		C3N-00551_TP	C3N-00551_NB	C	C																c.2447G>T	p.Gly816Val	p.G816V	ENST00000389048	14/29	450	411	39	494	493	1	strelka-varscan-mutect	ALK,missense_variant,p.Gly816Val,ENST00000389048,NM_004304.4;ALK,missense_variant,p.Gly439Val,ENST00000618119,;	A	ENST00000389048	Transcript	missense_variant	3354/6220	2447/4863	816/1620	G/V	gGa/gTa	rs771130459	1		-1	ALK	HGNC	HGNC:427	protein_coding	YES	CCDS33172.1	ENSP00000373700	Q9UM73		UPI00001684DA	NM_004304.4	deleterious(0)		14/29		Low_complexity_(Seg):seg,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF276,Pfam_domain:PF12810																	MODERATE	1	SNV	1			1										PASS		rs771130459	.												A	3	1	53	29233605	29233605	C	A	1	0	0	0	0	1	0	0	0	625	855	30	2		2	ALK	2	29233605	Missense_Mutation	SNP	C	C3N-00551_TP	1653677	29233605	212959924	69	16748											
GALNT14	0	.	GRCh38	chr2	30958437	30958437	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaatatgatttcccggatCagatgcgtaggggtgcggtt	9	12	13	7	3	1	2	1	1	0	1	2	3	2	3	1	4	2	2	1	4	3	5	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.441G>T	p.=	p.L147L	ENST00000324589	5/16	183	162	21	213	213	0	strelka-varscan-mutect	GALNT14,synonymous_variant,p.=,ENST00000349752,NM_024572.3;GALNT14,synonymous_variant,p.=,ENST00000406653,NM_001253827.1;GALNT14,synonymous_variant,p.=,ENST00000324589,NM_001253826.1;GALNT14,synonymous_variant,p.=,ENST00000430167,;GALNT14,non_coding_transcript_exon_variant,,ENST00000464038,;GALNT14,non_coding_transcript_exon_variant,,ENST00000481023,;GALNT14,non_coding_transcript_exon_variant,,ENST00000496397,;GALNT14,non_coding_transcript_exon_variant,,ENST00000461193,;GALNT14,upstream_gene_variant,,ENST00000486564,;GALNT14,3_prime_UTR_variant,,ENST00000455477,;GALNT14,3_prime_UTR_variant,,ENST00000424136,;	A	ENST00000324589	Transcript	synonymous_variant	502/2169	441/1674	147/557	L	ctG/ctT		1		-1	GALNT14	HGNC	HGNC:22946	protein_coding	YES	CCDS58706.1	ENSP00000314500	Q96FL9		UPI0000073A6F	NM_001253826.1			5/16		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF8,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	53	30958437	30958437	C	A	1	0	0	0	0	0	0	0	1	6080	813	29	2		2	GALNT14	2	30958437	Silent	SNP	C	C3N-00551_TP	1724832	30958437	211235092	70	16749											
LTBP1	0	.	GRCh38	chr2	33273700	33273700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatatctgtggagcaggaCactgcattaacctaccagtg	11	10	10	10	0	1	1	0	1	1	0	1	3	1	3	2	2	4	2	2	2	3	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2662C>A	p.His888Asn	p.H888N	ENST00000404816	16/34	181	146	35	232	231	1	strelka-varscan-mutect	LTBP1,missense_variant,p.His888Asn,ENST00000404816,NM_206943.2;LTBP1,missense_variant,p.His562Asn,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,missense_variant,p.His509Asn,ENST00000404525,NM_001166265.1;LTBP1,missense_variant,p.His562Asn,ENST00000407925,NM_000627.3;LTBP1,missense_variant,p.His509Asn,ENST00000402934,;LTBP1,missense_variant,p.His216Asn,ENST00000413303,;LTBP1,missense_variant,p.His206Asn,ENST00000468091,;LTBP1,upstream_gene_variant,,ENST00000415140,;	A	ENST00000404816	Transcript	missense_variant	3015/6333	2662/5166	888/1721	H/N	Cac/Aac		1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2	tolerated(0.17)		16/34		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF39,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	5			1										PASS		rs1228768716	.												A	3	1	53	33273700	33273700	C	A	1	0	0	0	0	1	0	0	0	8979	478	17	2		2	LTBP1	2	33273700	Missense_Mutation	SNP	C	C3N-00551_TP	2315263	33273700	208919829	71	16750											
LTBP1	0	.	GRCh38	chr2	33398462	33398462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagtgtttgtgtctgccaGgctacgtgccttctgacaag	8	12	11	10	1	2	1	0	1	2	0	2	1	2	1	2	1	3	2	2	1	3	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.5083G>T	p.Gly1695Cys	p.G1695C	ENST00000404816	34/34	197	177	20	267	266	1	strelka-varscan-mutect	LTBP1,missense_variant,p.Gly1695Cys,ENST00000404816,NM_206943.2;LTBP1,missense_variant,p.Gly1327Cys,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,missense_variant,p.Gly1316Cys,ENST00000404525,NM_001166265.1;LTBP1,missense_variant,p.Gly1369Cys,ENST00000407925,NM_000627.3;LTBP1,missense_variant,p.Gly1314Cys,ENST00000402934,;	T	ENST00000404816	Transcript	missense_variant	5436/6333	5083/5166	1695/1721	G/C	Ggc/Tgc		1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2	deleterious(0)		34/34		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF39,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	53	33398462	33398462	G	T	1	0	0	0	0	1	0	0	0	8979	1000	35	2		2	LTBP1	2	33398462	Missense_Mutation	SNP	G	C3N-00551_TP	124762	33398462	208795067	72	16751											
THADA	0	.	GRCh38	chr2	43581804	43581804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgccatatgggagaatCggaagtcttccaaagatttc	12	13	9	7	1	1	2	0	0	1	2	4	4	2	3	2	2	1	0	2	2	4	5	rs771706208		C3N-00551_TP	C3N-00551_NB	C	C																c.658G>T	p.Asp220Tyr	p.D220Y	ENST00000405006	8/38	131	118	13	296	296	0	strelka-varscan-mutect	THADA,missense_variant,p.Asp220Tyr,ENST00000403856,;THADA,missense_variant,p.Asp220Tyr,ENST00000405006,NM_001083953.1;THADA,missense_variant,p.Asp220Tyr,ENST00000405975,NM_022065.4;THADA,missense_variant,p.Asp220Tyr,ENST00000404790,NM_001271644.1;THADA,missense_variant,p.Asp220Tyr,ENST00000402360,NM_001271643.1;THADA,missense_variant,p.Asp220Tyr,ENST00000398653,;THADA,missense_variant,p.Asp220Tyr,ENST00000408045,;THADA,missense_variant,p.Asp220Tyr,ENST00000474159,;	A	ENST00000405006	Transcript	missense_variant	1010/6310	658/5862	220/1953	D/Y	Gat/Tat	rs771706208	1		-1	THADA	HGNC	HGNC:19217	protein_coding	YES	CCDS46268.1	ENSP00000385995	Q6YHU6		UPI00001C0473	NM_001083953.1	deleterious(0.02)		8/38		hmmpanther:PTHR14387,hmmpanther:PTHR14387:SF2																	MODERATE	1	SNV	1			1										PASS		rs771706208	.												A	3	1	53	43581804	43581804	C	A	1	0	0	0	0	1	0	0	0	16272	884	31	1		1	THADA	2	43581804	Missense_Mutation	SNP	C	C3N-00551_TP	10183342	43581804	198611725	73	16752											
PSME4	0	.	GRCh38	chr2	53920334	53920334	+	Missense_Mutation	SNP	C	C	A																															ttcccagattccacaagtccCcgggtttgccccagtcctag																								novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2279G>T	p.Gly760Val	p.G760V	ENST00000404125	19/47	90	75	15	89	89	0	strelka-varscan-mutect	PSME4,missense_variant,p.Gly760Val,ENST00000404125,NM_014614.2;PSME4,3_prime_UTR_variant,,ENST00000389993,;	A	ENST00000404125	Transcript	missense_variant	2335/7099	2279/5532	760/1843	G/V	gGg/gTg		1		-1	PSME4	HGNC	HGNC:20635	protein_coding	YES	CCDS33197.2	ENSP00000384211	Q14997		UPI0000F3BE4A	NM_014614.2	deleterious(0.01)		19/47		Pfam_domain:PF16507,hmmpanther:PTHR32170,hmmpanther:PTHR32170:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	53920334	53920334	C	A	1	0	0	0	0	1	0	0	0	12860	623	22	2		2	PSME4	2	53920334	Missense_Mutation	SNP	C	C3N-00551_TP	10338530	53920334	188273195	74	16753	362	2									
PSME4	0	.	GRCh38	chr2	53920335	53920335	+	Missense_Mutation	SNP	C	C	A																															tcccagattccacaagtcccCgggtttgccccagtcctaga																								rs763026052		C3N-00551_TP	C3N-00551_NB	C	C																c.2278G>T	p.Gly760Trp	p.G760W	ENST00000404125	19/47	88	74	14	87	87	0	strelka-varscan-mutect	PSME4,missense_variant,p.Gly760Trp,ENST00000404125,NM_014614.2;PSME4,3_prime_UTR_variant,,ENST00000389993,;	A	ENST00000404125	Transcript	missense_variant	2334/7099	2278/5532	760/1843	G/W	Ggg/Tgg	rs763026052	1		-1	PSME4	HGNC	HGNC:20635	protein_coding	YES	CCDS33197.2	ENSP00000384211	Q14997		UPI0000F3BE4A	NM_014614.2	deleterious(0)		19/47		Pfam_domain:PF16507,hmmpanther:PTHR32170,hmmpanther:PTHR32170:SF3																	MODERATE	1	SNV	1			1										PASS		rs763026052	.												A	3	1	53	53920335	53920335	C	A	1	0	0	0	0	1	0	0	0	12860	652	23	1		1	PSME4	2	53920335	Missense_Mutation	SNP	C	C3N-00551_TP	1	53920335	188273194	75	16754	362	2									
EML6	0	.	GRCh38	chr2	54869252	54869252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtagtctaccacattgctgCagttgctgtcgtgtataatc	9	14	9	9	1	1	0	0	0	1	0	3	0	1	0	1	0	4	6	1	0	4	6	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2123C>A	p.Ala708Glu	p.A708E	ENST00000356458	14/41	168	131	37	168	168	0	strelka-varscan-mutect	EML6,missense_variant,p.Ala708Glu,ENST00000356458,NM_001039753.2;EML6,non_coding_transcript_exon_variant,,ENST00000493997,;	A	ENST00000356458	Transcript	missense_variant	2643/8320	2123/5877	708/1958	A/E	gCa/gAa		1		1	EML6	HGNC	HGNC:35412	protein_coding	YES	CCDS46286.1	ENSP00000348842	Q6ZMW3		UPI00006C0432	NM_001039753.2	deleterious(0)		14/41		Low_complexity_(Seg):seg,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF8,Pfam_domain:PF03451,Superfamily_domains:SSF50978																	MODERATE	1	SNV	5			1										PASS		rs906853387	.												A	3	1	53	54869252	54869252	C	A	1	0	0	0	0	1	0	0	0	4944	710	25	2		2	EML6	2	54869252	Missense_Mutation	SNP	C	C3N-00551_TP	948917	54869252	187324277	76	16755											
OTX1	0	.	GRCh38	chr2	63056202	63056202	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaactctgccgactgcttGgattacaaggagcctggcgc	8	10	11	12	2	2	0	1	0	1	0	2	3	2	2	2	3	5	1	2	3	3	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.951G>T	p.Leu317Phe	p.L317F	ENST00000282549	5/5	249	218	31	303	303	0	strelka-varscan-mutect	OTX1,missense_variant,p.Leu317Phe,ENST00000282549,NM_014562.3;OTX1,missense_variant,p.Leu317Phe,ENST00000366671,NM_001199770.1;OTX1,3_prime_UTR_variant,,ENST00000405984,;OTX1,downstream_gene_variant,,ENST00000484066,;OTX1,downstream_gene_variant,,ENST00000477348,;OTX1,downstream_gene_variant,,ENST00000476383,;	T	ENST00000282549	Transcript	missense_variant	1227/2861	951/1065	317/354	L/F	ttG/ttT		1		1	OTX1	HGNC	HGNC:8521	protein_coding	YES	CCDS1873.1	ENSP00000282549	P32242		UPI0000130F36	NM_014562.3	deleterious(0.01)		5/5		hmmpanther:PTHR24329:SF310,hmmpanther:PTHR24329,Prints_domain:PR01255																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	63056202	63056202	G	T	1	0	0	0	0	1	0	0	0	11390	1339	47	2		2	OTX1	2	63056202	Missense_Mutation	SNP	G	C3N-00551_TP	8186950	63056202	179137327	77	16756											
CLEC4F	0	.	GRCh38	chr2	70816125	70816125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcttaacctctggatctcgGcactggccttctgcagattg	6	13	9	13	1	4	1	0	0	4	1	5	2	4	2	2	3	2	2	2	3	1	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1256C>A	p.Ala419Asp	p.A419D	ENST00000272367	4/7	300	258	42	340	340	0	strelka-varscan-mutect	CLEC4F,missense_variant,p.Ala419Asp,ENST00000272367,NM_001258027.1,NM_173535.2;CLEC4F,missense_variant,p.Ala419Asp,ENST00000426626,;AC007395.4,upstream_gene_variant,,ENST00000451333,;	T	ENST00000272367	Transcript	missense_variant	1333/2475	1256/1770	419/589	A/D	gCc/gAc		1		-1	CLEC4F	HGNC	HGNC:25357	protein_coding	YES	CCDS1910.1	ENSP00000272367	Q8N1N0		UPI0000376BCC	NM_001258027.1,NM_173535.2	tolerated(0.11)		4/7		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF238																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	53	70816125	70816125	G	T	1	0	0	0	0	1	0	0	0	3284	1203	42	2		2	CLEC4F	2	70816125	Missense_Mutation	SNP	G	C3N-00551_TP	7759923	70816125	171377404	78	16757											
EMX1	0	.	GRCh38	chr2	72918046	72918046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactggcggcgggggcgcggGctcccatctcctggcggcgg	2	5	19	15	6	1	0	0	0	1	0	3	0	2	0	2	8	0	1	2	8	0	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.194G>T	p.Gly65Val	p.G65V	ENST00000258106	1/3	59	40	19	83	83	0	strelka-varscan-mutect	EMX1,missense_variant,p.Gly65Val,ENST00000258106,NM_004097.2;EMX1,intron_variant,,ENST00000394111,;EMX1,upstream_gene_variant,,ENST00000473732,;	T	ENST00000258106	Transcript	missense_variant	572/2188	194/873	65/290	G/V	gGc/gTc		1		1	EMX1	HGNC	HGNC:3340	protein_coding	YES	CCDS1921.2	ENSP00000258106	Q04741		UPI0000D47CF7	NM_004097.2	tolerated(0.24)		1/3		hmmpanther:PTHR24339,hmmpanther:PTHR24339:SF26,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	72918046	72918046	G	T	1	0	0	0	0	1	0	0	0	4949	1203	42	2		2	EMX1	2	72918046	Missense_Mutation	SNP	G	C3N-00551_TP	2101921	72918046	169275483	79	16758											
ALMS1	0	.	GRCh38	chr2	73489988	73489988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccattcgatgaaaagatgGacccttggctgtcagaatta	12	11	10	8	1	1	3	1	1	0	2	2	5	1	4	2	2	1	1	2	2	4	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.8029G>T	p.Asp2677Tyr	p.D2677Y	ENST00000613296	10/23	375	282	93	369	369	0	strelka-varscan-mutect	ALMS1,missense_variant,p.Asp2677Tyr,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Asp2635Tyr,ENST00000484298,;ALMS1,missense_variant,p.Asp2677Tyr,ENST00000614410,;ALMS1,missense_variant,p.Asp954Tyr,ENST00000423048,;ALMS1,non_coding_transcript_exon_variant,,ENST00000620466,;	T	ENST00000613296	Transcript	missense_variant	8140/12925	8029/12507	2677/4168	D/Y	Gac/Tac		1		1	ALMS1	HGNC	HGNC:428	protein_coding	YES	CCDS42697.1	ENSP00000482968		A0A087WZY3	UPI00046209B2	NM_015120.4	deleterious(0)		10/23		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	73489988	73489988	G	T	1	0	0	0	0	1	0	0	0	635	1174	41	2		2	ALMS1	2	73489988	Missense_Mutation	SNP	G	C3N-00551_TP	571942	73489988	168703541	80	16759											
ALMS1	0	.	GRCh38	chr2	73490522	73490522	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagaccaagttccaccctaGgagtaaacagatcgagttcc	13	7	9	12	1	0	2	0	0	0	2	3	4	2	3	4	1	1	4	4	1	4	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.8563G>T	p.Gly2855Ter	p.G2855*	ENST00000613296	10/23	355	323	32	397	396	1	strelka-varscan-mutect	ALMS1,stop_gained,p.Gly2855Ter,ENST00000613296,NM_015120.4;ALMS1,stop_gained,p.Gly2813Ter,ENST00000484298,;ALMS1,stop_gained,p.Gly2855Ter,ENST00000614410,;ALMS1,non_coding_transcript_exon_variant,,ENST00000620466,;ALMS1,intron_variant,,ENST00000423048,;	T	ENST00000613296	Transcript	stop_gained	8674/12925	8563/12507	2855/4168	G/*	Gga/Tga		1		1	ALMS1	HGNC	HGNC:428	protein_coding	YES	CCDS42697.1	ENSP00000482968		A0A087WZY3	UPI00046209B2	NM_015120.4			10/23		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	53	73490522	73490522	G	T	1	0	0	0	0	0	1	0	0	635	1001	35	2		2	ALMS1	2	73490522	Nonsense_Mutation	SNP	G	C3N-00551_TP	534	73490522	168703007	81	16760											
ALMS1	0	.	GRCh38	chr2	73491345	73491345	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggatttccaagtcgtacAgccttctcttccagacagta	10	12	7	12	1	1	1	0	0	1	1	5	2	3	2	3	1	2	2	3	1	3	5	rs372015288		C3N-00551_TP	C3N-00551_NB	A	A																c.9386A>T	p.Gln3129Leu	p.Q3129L	ENST00000613296	10/23	211	195	16	181	181	0	strelka-varscan-mutect	ALMS1,missense_variant,p.Gln3129Leu,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Gln3087Leu,ENST00000484298,;ALMS1,missense_variant,p.Gln3129Leu,ENST00000614410,;ALMS1,non_coding_transcript_exon_variant,,ENST00000620466,;ALMS1,intron_variant,,ENST00000423048,;	T	ENST00000613296	Transcript	missense_variant	9497/12925	9386/12507	3129/4168	Q/L	cAg/cTg	rs372015288	1		1	ALMS1	HGNC	HGNC:428	protein_coding	YES	CCDS42697.1	ENSP00000482968		A0A087WZY3	UPI00046209B2	NM_015120.4	tolerated(0.08)		10/23		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22																	MODERATE	1	SNV	1			1										PASS		rs372015288	.												T	3	4	53	73491345	73491345	A	T	1	0	0	0	0	1	0	0	0	635	188	7	4		4	ALMS1	2	73491345	Missense_Mutation	SNP	A	C3N-00551_TP	823	73491345	168702184	82	16761											
LOXL3	0	.	GRCh38	chr2	74535743	74535743	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgttggctgcggccccCactgagtcggatctgtagtg	5	11	13	12	2	2	1	1	1	1	0	3	2	2	2	2	3	1	3	2	3	1	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1261G>T	p.Gly421Trp	p.G421W	ENST00000264094	8/14	35	31	4	44	44	0	strelka-varscan-mutect	LOXL3,missense_variant,p.Gly421Trp,ENST00000264094,NM_032603.3;LOXL3,missense_variant,p.Gly276Trp,ENST00000393937,NM_001289164.1;LOXL3,missense_variant,p.Gly276Trp,ENST00000409986,;LOXL3,missense_variant,p.Gly148Trp,ENST00000420535,;LOXL3,intron_variant,,ENST00000409549,;LOXL3,intron_variant,,ENST00000409249,;HTRA2,downstream_gene_variant,,ENST00000258080,NM_013247.4;HTRA2,downstream_gene_variant,,ENST00000437202,;HTRA2,downstream_gene_variant,,ENST00000352222,NM_145074.2;LOXL3,downstream_gene_variant,,ENST00000413469,;LOXL3,intron_variant,,ENST00000481835,;HTRA2,downstream_gene_variant,,ENST00000467961,;HTRA2,downstream_gene_variant,,ENST00000462909,;LOXL3,downstream_gene_variant,,ENST00000484369,;HTRA2,downstream_gene_variant,,ENST00000484881,;LOXL3,non_coding_transcript_exon_variant,,ENST00000470907,;HTRA2,downstream_gene_variant,,ENST00000484352,;HTRA2,downstream_gene_variant,,ENST00000482331,;HTRA2,downstream_gene_variant,,ENST00000465521,;HTRA2,downstream_gene_variant,,ENST00000482205,;	A	ENST00000264094	Transcript	missense_variant	1333/3502	1261/2262	421/753	G/W	Ggg/Tgg		1		-1	LOXL3	HGNC	HGNC:13869	protein_coding	YES	CCDS1953.1	ENSP00000264094	P58215		UPI0000044959	NM_032603.3	deleterious(0)		8/14		Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF305,SMART_domains:SM00202,Superfamily_domains:SSF56487																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	74535743	74535743	C	A	1	0	0	0	0	1	0	0	0	8804	594	21	2		2	LOXL3	2	74535743	Missense_Mutation	SNP	C	C3N-00551_TP	1044398	74535743	167657786	83	16762											
LRRTM4	0	.	GRCh38	chr2	77519429	77519429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaattgttcagattgcaatGtctgaagcttattgtaggag	12	15	10	4	0	2	2	1	1	1	1	2	3	2	3	0	1	2	4	0	1	6	7	rs781578647		C3N-00551_TP	C3N-00551_NB	G	G																c.440C>A	p.Thr147Lys	p.T147K	ENST00000409093	3/4	227	202	25	262	261	1	strelka-varscan-mutect	LRRTM4,missense_variant,p.Thr147Lys,ENST00000409088,NM_024993.4;LRRTM4,missense_variant,p.Thr148Lys,ENST00000409911,;LRRTM4,missense_variant,p.Thr148Lys,ENST00000409282,NM_001282928.1;LRRTM4,missense_variant,p.Thr147Lys,ENST00000409093,NM_001282924.1;LRRTM4,missense_variant,p.Thr147Lys,ENST00000409884,NM_001134745.1;LRRTM4,downstream_gene_variant,,ENST00000456154,;	T	ENST00000409093	Transcript	missense_variant	777/2247	440/1773	147/590	T/K	aCa/aAa	rs781578647	1		-1	LRRTM4	HGNC	HGNC:19411	protein_coding	YES	CCDS46346.1	ENSP00000386357	Q86VH4		UPI0000047808	NM_001282924.1	tolerated(0.05)		3/4		PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF1,Gene3D:3.80.10.10,Pfam_domain:PF00560,SMART_domains:SM00369,Superfamily_domains:SSF52058,Prints_domain:PR00019																	MODERATE	1	SNV	2			1										PASS		rs781578647	.												T	3	4	53	77519429	77519429	G	T	1	0	0	0	0	1	0	0	0	8948	1377	48	2		2	LRRTM4	2	77519429	Missense_Mutation	SNP	G	C3N-00551_TP	2983686	77519429	164674100	84	16763											
CTNNA2	0	.	GRCh38	chr2	79869834	79869834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtggaagaggccctggaaGctgtcaaaaatgctacaaat	15	7	12	7	0	1	1	1	0	0	1	1	3	1	3	1	4	3	2	1	4	6	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.484G>A	p.Ala162Thr	p.A162T	ENST00000402739	4/18	133	123	10	183	183	0	strelka-varscan-mutect	CTNNA2,missense_variant,p.Ala162Thr,ENST00000466387,;CTNNA2,missense_variant,p.Ala162Thr,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Ala162Thr,ENST00000402739,NM_001282597.2;CTNNA2,missense_variant,p.Ala162Thr,ENST00000629316,NM_001164883.1;MIR8080,upstream_gene_variant,,ENST00000622224,;	A	ENST00000402739	Transcript	missense_variant	489/3684	484/2862	162/953	A/T	Gct/Act		1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2	tolerated(0.2)		4/18		Gene3D:1.20.120.230,Pfam_domain:PF01044,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Superfamily_domains:SSF47220																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	79869834	79869834	G	A	1	0	0	0	0	1	0	0	0	3822	971	34	3		3	CTNNA2	2	79869834	Missense_Mutation	SNP	G	C3N-00551_TP	2350405	79869834	162323695	85	16764											
POLR1A	0	.	GRCh38	chr2	86030390	86030390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcagagggagcttcaCtgtcacctgcaaaaggaggg	11	8	12	10	0	4	1	4	0	0	1	4	3	4	3	1	3	2	2	1	3	2	2	rs752242589		C3N-00551_TP	C3N-00551_NB	C	C																c.4585G>T	p.Val1529Leu	p.V1529L	ENST00000263857	31/34	199	179	20	213	213	0	strelka-varscan-mutect	POLR1A,missense_variant,p.Val1529Leu,ENST00000263857,NM_015425.3;POLR1A,missense_variant,p.Val1468Leu,ENST00000409681,;POLR1A,downstream_gene_variant,,ENST00000492034,;POLR1A,downstream_gene_variant,,ENST00000496892,;POLR1A,upstream_gene_variant,,ENST00000471427,;	A	ENST00000263857	Transcript	missense_variant	4964/12749	4585/5163	1529/1720	V/L	Gtg/Ttg	rs752242589	1		-1	POLR1A	HGNC	HGNC:17264	protein_coding	YES	CCDS42706.1	ENSP00000263857	O95602		UPI0000D7DB86	NM_015425.3	tolerated(1)		31/34		hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF11,Pfam_domain:PF04998																	MODERATE	1	SNV	1			1										PASS		rs752242589	.												A	3	1	53	86030390	86030390	C	A	1	0	0	0	0	1	0	0	0	12319	565	20	2		2	POLR1A	2	86030390	Missense_Mutation	SNP	C	C3N-00551_TP	6160556	86030390	156163139	86	16765											
ZAP70	0	.	GRCh38	chr2	97739433	97739433	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcgagcctgttactacAgcctggccagcaaggtggaa	10	7	13	11	1	0	0	0	0	0	0	0	2	0	1	3	3	6	3	3	3	4	2	rs754998342		C3N-00551_TP	C3N-00551_NB	A	A																c.1795A>T	p.Ser599Cys	p.S599C	ENST00000264972	14/14	241	224	17	168	168	0	strelka-varscan-mutect	ZAP70,missense_variant,p.Ser599Cys,ENST00000264972,NM_001079.3;ZAP70,missense_variant,p.Ser292Cys,ENST00000451498,NM_207519.1;ZAP70,non_coding_transcript_exon_variant,,ENST00000463643,;ZAP70,non_coding_transcript_exon_variant,,ENST00000487283,;ZAP70,downstream_gene_variant,,ENST00000495754,;ZAP70,downstream_gene_variant,,ENST00000489250,;	T	ENST00000264972	Transcript	missense_variant	2010/2437	1795/1860	599/619	S/C	Agc/Tgc	rs754998342	1		1	ZAP70	HGNC	HGNC:12858	protein_coding	YES	CCDS33254.1	ENSP00000264972	P43403		UPI000013C370	NM_001079.3	deleterious(0.01)		14/14		PIRSF_domain:PIRSF000604,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF262,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs754998342	.												T	3	4	53	97739433	97739433	A	T	1	0	0	0	0	1	0	0	0	18075	188	7	4		4	ZAP70	2	97739433	Missense_Mutation	SNP	A	C3N-00551_TP	11709043	97739433	144454096	87	16766											
KIAA1211L	0	.	GRCh38	chr2	98832486	98832486	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggaggtggtggcccCattttcacattacactgtat	8	12	11	10	0	1	0	1	0	0	0	1	2	1	2	3	5	1	1	3	5	2	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.402G>C	p.Met134Ile	p.M134I	ENST00000397899	5/10	109	87	22	97	97	0	strelka-varscan-mutect	KIAA1211L,missense_variant,p.Met134Ile,ENST00000397899,NM_207362.2;KIAA1211L,missense_variant,p.Met162Ile,ENST00000423771,;KIAA1211L,missense_variant,p.Met148Ile,ENST00000428096,;KIAA1211L,missense_variant,p.Met148Ile,ENST00000415261,;KIAA1211L,non_coding_transcript_exon_variant,,ENST00000462314,;	G	ENST00000397899	Transcript	missense_variant	734/3907	402/2889	134/962	M/I	atG/atC		1		-1	KIAA1211L	HGNC	HGNC:33454	protein_coding	YES	CCDS42720.1	ENSP00000380996	Q6NV74		UPI0000E59245	NM_207362.2	deleterious(0.04)		5/10		Pfam_domain:PF15262,hmmpanther:PTHR22118,hmmpanther:PTHR22118:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	98832486	98832486	C	G	1	0	0	0	0	1	0	0	0	8108	594	21	4		4	KIAA1211L	2	98832486	Missense_Mutation	SNP	C	C3N-00551_TP	1093053	98832486	143361043	88	16767											
MAP4K4	0	.	GRCh38	chr2	101891204	101891204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtctggtggcagcagtcaGgtttatttcatgaccttagg	7	13	13	8	1	3	1	2	1	1	0	3	1	3	1	1	5	1	3	1	5	2	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.3777G>C	p.Gln1259His	p.Q1259H	ENST00000350878	31/31	282	262	20	315	315	0	strelka-varscan-mutect	MAP4K4,missense_variant,p.Gln1259His,ENST00000350878,NM_145686.3;MAP4K4,missense_variant,p.Gln1221His,ENST00000324219,NM_001242560.1;MAP4K4,missense_variant,p.Gln1306His,ENST00000625522,;MAP4K4,missense_variant,p.Gln1151His,ENST00000350198,;MAP4K4,missense_variant,p.Gln1140His,ENST00000413150,;MAP4K4,missense_variant,p.Gln973His,ENST00000302217,;MAP4K4,missense_variant,p.Gln1258His,ENST00000425019,;MAP4K4,missense_variant,p.Gln1156His,ENST00000417294,;MAP4K4,missense_variant,p.Gln1024His,ENST00000456652,;MAP4K4,missense_variant,p.Gln1151His,ENST00000634702,NM_004834.4,NM_145687.3;MAP4K4,missense_variant,p.Gln1225His,ENST00000347699,NM_001242559.1;MAP4K4,missense_variant,p.Gln1042His,ENST00000421882,;MAP4K4,missense_variant,p.Gln1030His,ENST00000627726,;	C	ENST00000350878	Transcript	missense_variant	4155/7640	3777/3822	1259/1273	Q/H	caG/caC		1		1	MAP4K4	HGNC	HGNC:6866	protein_coding	YES	CCDS74546.1	ENSP00000343658		E7ESS2	UPI0000EE6D9F	NM_145686.3	deleterious_low_confidence(0)		31/31																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	101891204	101891204	G	C	1	0	0	0	0	1	0	0	0	9186	991	35	4		4	MAP4K4	2	101891204	Missense_Mutation	SNP	G	C3N-00551_TP	3058718	101891204	140302325	89	16768											
IL1R2	0	.	GRCh38	chr2	102008621	102008621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtttctgccttcaccCttcagcctgcggcacacaca	7	10	9	15	1	3	0	2	0	1	0	3	1	3	1	3	2	3	2	3	2	0	3			C3N-00551_TP	C3N-00551_NB	C	C																c.46C>A	p.Leu16Ile	p.L16I	ENST00000332549	2/9	244	228	16	307	306	1	strelka-varscan-mutect	IL1R2,missense_variant,p.Leu16Ile,ENST00000332549,NM_004633.3;IL1R2,missense_variant,p.Leu16Ile,ENST00000393414,;IL1R2,missense_variant,p.Leu16Ile,ENST00000441002,NM_001261419.1;IL1R2,missense_variant,p.Leu16Ile,ENST00000457817,;IL1R2,non_coding_transcript_exon_variant,,ENST00000464994,;IL1R2,non_coding_transcript_exon_variant,,ENST00000493749,;IL1R2,upstream_gene_variant,,ENST00000482658,;	A	ENST00000332549	Transcript	missense_variant	275/1578	46/1197	16/398	L/I	Ctt/Att	COSM1690821	1		1	IL1R2	HGNC	HGNC:5994	protein_coding	YES	CCDS2054.1	ENSP00000330959	P27930		UPI0000001C78	NM_004633.3	tolerated(1)		2/9		hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF3											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	53	102008621	102008621	C	A	1	0	0	0	0	1	0	0	0	7562	681	24	2		2	IL1R2	2	102008621	Missense_Mutation	SNP	C	C3N-00551_TP	117417	102008621	140184908	90	16769											
IL1R2	0	.	GRCh38	chr2	102015998	102015998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtattagtatgccctGacctgagtgaattcacccgt	8	12	11	10	1	1	3	1	3	0	0	1	3	1	3	3	2	1	2	3	2	4	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.460G>T	p.Asp154Tyr	p.D154Y	ENST00000332549	4/9	259	228	31	233	233	0	strelka-varscan-mutect	IL1R2,missense_variant,p.Asp154Tyr,ENST00000332549,NM_004633.3;IL1R2,missense_variant,p.Asp154Tyr,ENST00000393414,;IL1R2,missense_variant,p.Asp154Tyr,ENST00000441002,NM_001261419.1;IL1R2,missense_variant,p.Asp154Tyr,ENST00000457817,;IL1R2,non_coding_transcript_exon_variant,,ENST00000482658,;	T	ENST00000332549	Transcript	missense_variant	689/1578	460/1197	154/398	D/Y	Gac/Tac		1		1	IL1R2	HGNC	HGNC:5994	protein_coding	YES	CCDS2054.1	ENSP00000330959	P27930		UPI0000001C78	NM_004633.3	deleterious(0)		4/9		PROSITE_profiles:PS50835,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF3,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726,Prints_domain:PR01536,Prints_domain:PR01539																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	102015998	102015998	G	T	1	0	0	0	0	1	0	0	0	7562	1290	45	2		2	IL1R2	2	102015998	Missense_Mutation	SNP	G	C3N-00551_TP	7377	102015998	140177531	91	16770											
CHCHD5	0	.	GRCh38	chr2	112586235	112586235	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccgccaggcctgtgctcAgccttttgaggccttcgagg	5	10	13	13	2	1	1	1	1	0	0	3	3	2	1	5	3	2	1	5	3	0	3	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.179A>C	p.Gln60Pro	p.Q60P	ENST00000324913	3/4	127	113	14	96	96	0	strelka-varscan-mutect	CHCHD5,missense_variant,p.Gln60Pro,ENST00000409719,;CHCHD5,missense_variant,p.Gln60Pro,ENST00000324913,NM_032309.3;AC012442.6,upstream_gene_variant,,ENST00000436885,;AC012442.5,upstream_gene_variant,,ENST00000414784,;CHCHD5,non_coding_transcript_exon_variant,,ENST00000489052,;CHCHD5,non_coding_transcript_exon_variant,,ENST00000469030,;CHCHD5,3_prime_UTR_variant,,ENST00000454841,;	C	ENST00000324913	Transcript	missense_variant	386/691	179/333	60/110	Q/P	cAg/cCg		1		1	CHCHD5	HGNC	HGNC:17840	protein_coding	YES	CCDS2098.1	ENSP00000325655	Q9BSY4		UPI0000034E2C	NM_032309.3	deleterious(0.03)		3/4		hmmpanther:PTHR21107,hmmpanther:PTHR21107:SF0,Pfam_domain:PF06747																	MODERATE	1	SNV	1			1										PASS		rs1054016534	.												C	3	2	53	112586235	112586235	A	C	1	0	0	0	0	1	0	0	0	3079	188	7	5		5	CHCHD5	2	112586235	Missense_Mutation	SNP	A	C3N-00551_TP	10570237	112586235	129607294	92	16771											
FOXD4L1	0	.	GRCh38	chr2	113499436	113499436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgctccagccggggctgcaGgtggcccggtggggcggggt	2	6	21	12	4	0	0	0	0	0	0	2	0	1	0	3	9	2	3	3	9	0	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.180G>T	p.Gln60His	p.Q60H	ENST00000306507	1/1	368	256	112	485	485	0	strelka-varscan-mutect	FOXD4L1,missense_variant,p.Gln60His,ENST00000306507,NM_012184.4;CBWD2,downstream_gene_variant,,ENST00000259199,NM_172003.3;CBWD2,downstream_gene_variant,,ENST00000416503,;CBWD2,downstream_gene_variant,,ENST00000433343,;CBWD2,downstream_gene_variant,,ENST00000479583,;CBWD2,downstream_gene_variant,,ENST00000468417,;CBWD2,downstream_gene_variant,,ENST00000358604,;CBWD2,downstream_gene_variant,,ENST00000456188,;	T	ENST00000306507	Transcript	missense_variant	772/2491	180/1227	60/408	Q/H	caG/caT		1		1	FOXD4L1	HGNC	HGNC:18521	protein_coding	YES	CCDS2117.1	ENSP00000302756	Q9NU39		UPI000012ADD0	NM_012184.4	tolerated(0.21)		1/1		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF219																	MODERATE		SNV				1										PASS		rs958979465	.												T	3	4	53	113499436	113499436	G	T	1	0	0	0	0	1	0	0	0	5860	991	35	2		2	FOXD4L1	2	113499436	Missense_Mutation	SNP	G	C3N-00551_TP	913201	113499436	128694093	93	16772											
CFAP221	0	.	GRCh38	chr2	119656438	119656438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaggaacctgcggggcAaagcactcaacacatacctg	14	5	11	11	1	1	2	1	1	0	1	1	3	1	3	2	3	5	2	2	3	4	1	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.2491A>G	p.Lys831Glu	p.K831E	ENST00000413369	24/24	236	200	36	279	279	0	strelka-varscan-mutect	CFAP221,missense_variant,p.Lys390Glu,ENST00000443972,;CFAP221,missense_variant,p.Lys831Glu,ENST00000413369,NM_001271049.1;CFAP221,non_coding_transcript_exon_variant,,ENST00000464578,;CFAP221,3_prime_UTR_variant,,ENST00000295220,;	G	ENST00000413369	Transcript	missense_variant	2578/2801	2491/2523	831/840	K/E	Aaa/Gaa		1		1	CFAP221	HGNC	HGNC:33720	protein_coding	YES	CCDS33282.2	ENSP00000393222	Q4G0U5		UPI0001D322F9	NM_001271049.1	deleterious(0)		24/24		hmmpanther:PTHR23053																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	53	119656438	119656438	A	G	1	0	0	0	0	1	0	0	0	3016	131	5	5		5	CFAP221	2	119656438	Missense_Mutation	SNP	A	C3N-00551_TP	6157002	119656438	122537091	94	16773											
CLASP1	0	.	GRCh38	chr2	121527838	121527838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagagacagatgccttctCgagtacggaaattcttgtgt	10	11	12	8	2	2	2	0	0	2	2	3	5	2	3	1	2	2	2	1	2	2	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.431G>T	p.Arg144Leu	p.R144L	ENST00000263710	5/40	190	170	20	179	179	0	strelka-varscan-mutect	CLASP1,missense_variant,p.Arg144Leu,ENST00000263710,NM_015282.2;CLASP1,missense_variant,p.Arg144Leu,ENST00000409078,NM_001142274.1;CLASP1,missense_variant,p.Arg144Leu,ENST00000397587,;CLASP1,missense_variant,p.Arg144Leu,ENST00000541377,NM_001207051.1;CLASP1,missense_variant,p.Arg144Leu,ENST00000455322,NM_001142273.1;RNU4ATAC,upstream_gene_variant,,ENST00000580972,;RP11-204L24.2,upstream_gene_variant,,ENST00000577914,;CLASP1,non_coding_transcript_exon_variant,,ENST00000485112,;CLASP1,upstream_gene_variant,,ENST00000474065,;	A	ENST00000263710	Transcript	missense_variant	821/8092	431/4617	144/1538	R/L	cGa/cTa		1		-1	CLASP1	HGNC	HGNC:17088	protein_coding	YES		ENSP00000263710	Q7Z460		UPI00001A8BFF	NM_015282.2	deleterious(0)		5/40		Gene3D:1.25.10.10,Pfam_domain:PF12348,hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF28,SMART_domains:SM01349,Superfamily_domains:SSF48371																	MODERATE		SNV	5			1										PASS		rs1470907638	.												A	3	1	53	121527838	121527838	C	A	1	0	0	0	0	1	0	0	0	3217	884	31	1		1	CLASP1	2	121527838	Missense_Mutation	SNP	C	C3N-00551_TP	1871400	121527838	120665691	95	16774											
MYO7B	0	.	GRCh38	chr2	127608852	127608852	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgccatgattgggggccagGagggccaggcctcgccgcac	6	5	16	14	2	0	1	0	1	0	0	1	2	0	2	5	5	1	1	5	5	0	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2788G>T	p.Glu930Ter	p.E930*	ENST00000428314	22/47	185	172	13	151	151	0	strelka-varscan-mutect	MYO7B,stop_gained,p.Glu930Ter,ENST00000428314,NM_001080527.1;MYO7B,stop_gained,p.Glu930Ter,ENST00000409816,;MYO7B,upstream_gene_variant,,ENST00000563538,;	T	ENST00000428314	Transcript	stop_gained	2841/6715	2788/6351	930/2116	E/*	Gag/Tag		1		1	MYO7B	HGNC	HGNC:7607	protein_coding	YES	CCDS46405.1	ENSP00000415090	Q6PIF6		UPI00006C04F0	NM_001080527.1			22/47																			HIGH	1	SNV	5			1										PASS		rs1254826226	.												T	4	4	53	127608852	127608852	G	T	1	0	0	0	0	0	1	0	0	10084	1175	41	2		2	MYO7B	2	127608852	Nonsense_Mutation	SNP	G	C3N-00551_TP	6081014	127608852	114584677	96	16775											
POTEE	0	.	GRCh38	chr2	131218849	131218849	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccacagagctgcctggtgGggtaaagtccccagaaagga	11	6	13	11	0	0	2	0	0	0	2	2	3	2	3	4	4	2	2	4	4	3	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.447G>T	p.Trp149Cys	p.W149C	ENST00000356920	1/15	354	320	34	439	438	1	varscan-mutect	POTEE,missense_variant,p.Trp149Cys,ENST00000356920,NM_001083538.1;POTEE,missense_variant,p.Trp149Cys,ENST00000626191,;POTEE,missense_variant,p.Trp149Cys,ENST00000613282,;PLEKHB2,intron_variant,,ENST00000404460,;POTEE,missense_variant,p.Trp149Cys,ENST00000358087,;POTEE,missense_variant,p.Trp149Cys,ENST00000514256,;	T	ENST00000356920	Transcript	missense_variant	783/4159	447/3228	149/1075	W/C	tgG/tgT		1		1	POTEE	HGNC	HGNC:33895	protein_coding	YES	CCDS46414.1	ENSP00000439189	Q6S8J3		UPI0000F58EC8	NM_001083538.1	deleterious_low_confidence(0)		1/15		PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	131218849	131218849	G	T	1	0	0	0	0	1	0	0	0	12378	1241	43	2		2	POTEE	2	131218849	Missense_Mutation	SNP	G	C3N-00551_TP	3609997	131218849	110974680	97	16776											
NCKAP5	0	.	GRCh38	chr2	132784197	132784197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcctggagctgtgcggaaGttgggcggaatgttttggaa	8	11	16	6	2	0	0	0	0	0	0	1	4	1	4	1	5	2	3	1	5	3	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2614C>A	p.Leu872Ile	p.L872I	ENST00000409261	14/20	29	25	4	32	32	0	strelka-varscan-mutect	NCKAP5,missense_variant,p.Leu872Ile,ENST00000409261,NM_207363.2;NCKAP5,missense_variant,p.Leu872Ile,ENST00000317721,;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,intron_variant,,ENST00000409213,NM_207481.3;NCKAP5,upstream_gene_variant,,ENST00000473859,;	T	ENST00000409261	Transcript	missense_variant	2988/7594	2614/5730	872/1909	L/I	Ctt/Att		1		-1	NCKAP5	HGNC	HGNC:29847	protein_coding	YES	CCDS46418.1	ENSP00000387128	O14513		UPI0000E07A3F	NM_207363.2	tolerated(0.17)		14/20		hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF0																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	53	132784197	132784197	G	T	1	0	0	0	0	1	0	0	0	10241	1029	36	2		2	NCKAP5	2	132784197	Missense_Mutation	SNP	G	C3N-00551_TP	1565348	132784197	109409332	98	16777											
NCKAP5	0	.	GRCh38	chr2	132784797	132784797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcaccgtcttccgcatCaaatatcacagtcacacatt	11	10	6	14	2	5	0	4	0	1	0	6	0	6	0	2	1	0	2	2	1	2	3			C3N-00551_TP	C3N-00551_NB	C	C																c.2014G>T	p.Asp672Tyr	p.D672Y	ENST00000409261	14/20	68	60	8	71	71	0	strelka-varscan-mutect	NCKAP5,missense_variant,p.Asp672Tyr,ENST00000409261,NM_207363.2;NCKAP5,missense_variant,p.Asp672Tyr,ENST00000317721,;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,intron_variant,,ENST00000409213,NM_207481.3;NCKAP5,upstream_gene_variant,,ENST00000473859,;	A	ENST00000409261	Transcript	missense_variant	2388/7594	2014/5730	672/1909	D/Y	Gat/Tat	COSM715718	1		-1	NCKAP5	HGNC	HGNC:29847	protein_coding	YES	CCDS46418.1	ENSP00000387128	O14513		UPI0000E07A3F	NM_207363.2	deleterious(0)		14/20		hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF0											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	53	132784797	132784797	C	A	1	0	0	0	0	1	0	0	0	10241	826	29	2		2	NCKAP5	2	132784797	Missense_Mutation	SNP	C	C3N-00551_TP	600	132784797	109408732	99	16778											
SCN3A	0	.	GRCh38	chr2	165095610	165095610	+	Missense_Mutation	SNP	C	C	A																															aagatgacaaagtataaataCatgtacagattttcttcata																								novel		C3N-00551_TP	C3N-00551_NB	C	C																c.4332G>T	p.Met1444Ile	p.M1444I	ENST00000283254	25/28	101	91	10	83	83	0	strelka-varscan-mutect	SCN3A,missense_variant,p.Met1444Ile,ENST00000360093,;SCN3A,missense_variant,p.Met1444Ile,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,missense_variant,p.Met1395Ile,ENST00000409101,NM_001081677.1;SCN3A,downstream_gene_variant,,ENST00000440431,;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000628085,;AC013463.2,intron_variant,,ENST00000625505,;AC013463.2,downstream_gene_variant,,ENST00000431341,;SCN3A,upstream_gene_variant,,ENST00000465043,;SCN3A,non_coding_transcript_exon_variant,,ENST00000471697,;	A	ENST00000283254	Transcript	missense_variant	4800/9091	4332/6003	1444/2000	M/I	atG/atT		1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1	deleterious(0.01)		25/28		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	165095610	165095610	C	A	1	0	0	0	0	1	0	0	0	14187	478	17	2		2	SCN3A	2	165095610	Missense_Mutation	SNP	C	C3N-00551_TP	32310813	165095610	77097919	100	16779	363	2									
SCN3A	0	.	GRCh38	chr2	165095617	165095617	+	Missense_Mutation	SNP	A	A	T																															caaagtataaatacatgtacAgattttcttcatatacaggc																								novel		C3N-00551_TP	C3N-00551_NB	A	A																c.4325T>A	p.Leu1442Gln	p.L1442Q	ENST00000283254	25/28	98	89	9	78	78	0	strelka-varscan-mutect	SCN3A,missense_variant,p.Leu1442Gln,ENST00000360093,;SCN3A,missense_variant,p.Leu1442Gln,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,missense_variant,p.Leu1393Gln,ENST00000409101,NM_001081677.1;SCN3A,downstream_gene_variant,,ENST00000440431,;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000628085,;AC013463.2,intron_variant,,ENST00000625505,;AC013463.2,downstream_gene_variant,,ENST00000431341,;SCN3A,upstream_gene_variant,,ENST00000465043,;SCN3A,non_coding_transcript_exon_variant,,ENST00000471697,;	T	ENST00000283254	Transcript	missense_variant	4793/9091	4325/6003	1442/2000	L/Q	cTg/cAg		1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1	deleterious(0.01)		25/28		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	165095617	165095617	A	T	1	0	0	0	0	1	0	0	0	14187	188	7	4		4	SCN3A	2	165095617	Missense_Mutation	SNP	A	C3N-00551_TP	7	165095617	77097912	101	16780	363	2									
SCN3A	0	.	GRCh38	chr2	165130251	165130251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgccaatgatcttaattaGcatatttagtgtgggccagg	11	14	10	6	0	1	1	0	1	1	0	1	1	1	1	2	2	2	1	2	2	5	6	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2611C>A	p.Leu871Ile	p.L871I	ENST00000283254	17/28	292	261	31	357	357	0	strelka-varscan-mutect	SCN3A,missense_variant,p.Leu871Ile,ENST00000360093,;SCN3A,missense_variant,p.Leu871Ile,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,missense_variant,p.Leu822Ile,ENST00000409101,NM_001081677.1;SCN3A,missense_variant,p.Leu822Ile,ENST00000440431,;AC013463.2,non_coding_transcript_exon_variant,,ENST00000628085,;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000625505,;SCN3A,upstream_gene_variant,,ENST00000484898,;	T	ENST00000283254	Transcript	missense_variant	3079/9091	2611/6003	871/2000	L/I	Cta/Ata		1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1	deleterious(0.01)		17/28		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	165130251	165130251	G	T	1	0	0	0	0	1	0	0	0	14187	962	34	2		2	SCN3A	2	165130251	Missense_Mutation	SNP	G	C3N-00551_TP	34634	165130251	77063278	102	16781											
CDCA7	0	.	GRCh38	chr2	173363231	173363231	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattgttgtgattagaggctGcagtcagttcgggaaggctg	9	12	15	5	1	1	2	1	1	0	1	2	3	1	3	0	3	1	5	0	3	3	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.390G>T	p.=	p.L130L	ENST00000306721	4/10	174	158	16	201	201	0	strelka-varscan-mutect	CDCA7,synonymous_variant,p.=,ENST00000306721,NM_031942.4;CDCA7,synonymous_variant,p.=,ENST00000347703,NM_145810.2;CDCA7,synonymous_variant,p.=,ENST00000410019,;CDCA7,synonymous_variant,p.=,ENST00000410101,;CDCA7,3_prime_UTR_variant,,ENST00000435616,;CDCA7,non_coding_transcript_exon_variant,,ENST00000467411,;CDCA7,non_coding_transcript_exon_variant,,ENST00000496441,;CDCA7,non_coding_transcript_exon_variant,,ENST00000468359,;	T	ENST00000306721	Transcript	synonymous_variant	493/2789	390/1353	130/450	L	ctG/ctT		1		1	CDCA7	HGNC	HGNC:14628	protein_coding	YES	CCDS2252.1	ENSP00000306968	Q9BWT1		UPI0000456EA4	NM_031942.4			4/10																			LOW	1	SNV	2			1										PASS		.	.												T	2	4	53	173363231	173363231	G	T	1	0	0	0	0	0	0	0	1	2793	1333	46	2		2	CDCA7	2	173363231	Silent	SNP	G	C3N-00551_TP	8232980	173363231	68830298	103	16782											
TTN	0	.	GRCh38	chr2	178722907	178722928	+	Frame_Shift_Del	DEL	GGTTCCAGTTCCGTAACAAAAT	GGTTCCAGTTCCGTAACAAAAT	-																															ctccaactgctgcctccagaGgttccagttccgtaacaaaa																								novel		C3N-00551_TP	C3N-00551_NB	GGTTCCAGTTCCGTAACAAAAT	GGTTCCAGTTCCGTAACAAAAT																c.21971_21992delATTTTGTTACGGAACTGGAACC	p.Tyr7324PhefsTer55	p.Y7324Ffs*55	ENST00000589042	76/363	123	109	14	123	123	0	sindel-varindel-pindel	TTN,frameshift_variant,p.Tyr7324PhefsTer55,ENST00000589042,NM_001267550.2;TTN,frameshift_variant,p.Tyr7007PhefsTer55,ENST00000591111,;TTN,frameshift_variant,p.Tyr7007PhefsTer55,ENST00000615779,NM_001256850.1;TTN,frameshift_variant,p.Tyr6080PhefsTer55,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,;	-	ENST00000589042	Transcript	frameshift_variant	22196-22217/109224	21971-21992/107976	7324-7331/35991	YFVTELEP/X	tATTTTGTTACGGAACTGGAACCt/tt		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			76/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	53	178722907	178722907	GGTTCCAGTTCCGTAACAAAAT	-	1	0	1	0	1	0	0	0	0	17245	1000	35	0		0	TTN	2	178722907	Frame_Shift_Del	DEL	GGTTCCAGTTCCGTAACAAAAT	C3N-00551_TP	5359676	178722907	63470622	104	16783											
TTN	0	.	GRCh38	chr2	178773146	178773147	+	Frame_Shift_Ins	INS	-	-	G																															cagatgtcatattttctcccINSgcgtaaaatgtgtattttcc																								novel		C3N-00551_TP	C3N-00551_NB	-	-																c.7817dupC	p.Glu2608ArgfsTer26	p.E2608Rfs*26	ENST00000589042	33/363	120	107	13	151	151	0	sindel-varindel-pindel	TTN,frameshift_variant,p.Glu2608ArgfsTer26,ENST00000589042,NM_001267550.2;TTN,frameshift_variant,p.Glu2608ArgfsTer26,ENST00000591111,;TTN,frameshift_variant,p.Glu2608ArgfsTer26,ENST00000615779,NM_001256850.1;TTN,frameshift_variant,p.Glu2608ArgfsTer26,ENST00000342992,NM_133378.4;TTN,frameshift_variant,p.Glu2562ArgfsTer26,ENST00000460472,NM_003319.4;TTN,frameshift_variant,p.Glu2562ArgfsTer26,ENST00000342175,NM_133437.4;TTN,frameshift_variant,p.Glu2562ArgfsTer26,ENST00000359218,NM_133432.3;TTN,frameshift_variant,p.Glu2608ArgfsTer26,ENST00000360870,NM_133379.4;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000584485,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,upstream_gene_variant,,ENST00000582038,;TTN-AS1,upstream_gene_variant,,ENST00000629094,;	G	ENST00000589042	Transcript	frameshift_variant	8042-8043/109224	7817-7818/107976	2606/35991	A/AX	gcg/gcCg		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			33/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	insertion	5			1										PASS		.	.												G	7	5	53	178773146	178773146	-	G	1	0	1	1	0	0	0	0	0	17245	639	23	0		0	TTN	2	178773146	Frame_Shift_Ins	INS	-	C3N-00551_TP	50239	178773146	63420383	105	16784											
CWC22	0	.	GRCh38	chr2	179945269	179945269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcatcacttcttgagcCtgagtgctttctattcattt	7	19	5	10	0	6	2	3	2	3	0	6	2	6	2	1	0	2	1	1	0	1	7	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2587G>T	p.Gly863Cys	p.G863C	ENST00000410053	20/20	210	192	18	280	280	0	strelka-varscan-mutect	CWC22,missense_variant,p.Gly863Cys,ENST00000410053,NM_020943.2;CWC22,downstream_gene_variant,,ENST00000404136,;	A	ENST00000410053	Transcript	missense_variant	2887/3280	2587/2727	863/908	G/C	Ggc/Tgc		1		-1	CWC22	HGNC	HGNC:29322	protein_coding	YES	CCDS46465.1	ENSP00000387006	Q9HCG8		UPI00001C1DAE	NM_020943.2	deleterious_low_confidence(0.03)		20/20																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	179945269	179945269	C	A	1	0	0	0	0	1	0	0	0	3878	681	24	2		2	CWC22	2	179945269	Missense_Mutation	SNP	C	C3N-00551_TP	1172123	179945269	62248260	106	16785											
FSIP2	0	.	GRCh38	chr2	185739380	185739380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactttgcaggggttggacCggctcagctactggacctac	7	9	12	13	1	1	0	1	0	0	0	1	2	1	2	3	5	4	4	3	5	2	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.401C>G	p.Pro134Arg	p.P134R	ENST00000343098	2/23	73	65	8	96	96	0	strelka-mutect	FSIP2,missense_variant,p.Pro134Arg,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Pro45Arg,ENST00000424728,;AC007966.1,intron_variant,,ENST00000427269,;AC007966.1,upstream_gene_variant,,ENST00000421998,;AC007966.1,upstream_gene_variant,,ENST00000437717,;FSIP2,non_coding_transcript_exon_variant,,ENST00000465275,;FSIP2,upstream_gene_variant,,ENST00000469367,;	G	ENST00000343098	Transcript	missense_variant	401/21054	401/20991	134/6996	P/R	cCg/cGg		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	deleterious(0)		2/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE		SNV	5			1										PASS		rs1404049977	.												G	3	3	53	185739380	185739380	C	G	1	0	0	0	0	1	0	0	0	5949	652	23	4		4	FSIP2	2	185739380	Missense_Mutation	SNP	C	C3N-00551_TP	5794111	185739380	56454149	107	16786											
WDR75	0	.	GRCh38	chr2	189474215	189474215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagaaagtcttcccacaacCccattttatttcatattggg	12	13	6	10	0	2	1	1	0	1	1	3	2	3	1	3	1	1	0	3	1	5	6	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2079C>T	p.=	p.T693T	ENST00000314761	19/21	83	74	9	137	137	0	strelka-mutect	WDR75,synonymous_variant,p.=,ENST00000314761,NM_032168.2,NM_001303096.1;WDR75,3_prime_UTR_variant,,ENST00000427960,;WDR75,3_prime_UTR_variant,,ENST00000436347,;	T	ENST00000314761	Transcript	synonymous_variant	2139/2701	2079/2493	693/830	T	acC/acT		1		1	WDR75	HGNC	HGNC:25725	protein_coding	YES	CCDS2298.1	ENSP00000314193	Q8IWA0		UPI000007452C	NM_032168.2,NM_001303096.1			19/21																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	189474215	189474215	C	T	1	0	0	0	0	0	0	0	1	17881	610	22	3		3	WDR75	2	189474215	Silent	SNP	C	C3N-00551_TP	3734835	189474215	52719314	108	16787											
SLC40A1	0	.	GRCh38	chr2	189562003	189562003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatgtggcccattgccaCaaaggagactgaaatcaata	16	8	8	9	0	1	2	1	1	0	1	1	3	1	2	2	2	1	0	2	2	5	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1591G>T	p.Val531Leu	p.V531L	ENST00000261024	8/8	411	363	48	472	472	0	strelka-varscan-mutect	SLC40A1,missense_variant,p.Val531Leu,ENST00000261024,NM_014585.5;SLC40A1,downstream_gene_variant,,ENST00000427241,;	A	ENST00000261024	Transcript	missense_variant	2018/3442	1591/1716	531/571	V/L	Gtg/Ttg		1		-1	SLC40A1	HGNC	HGNC:10909	protein_coding	YES	CCDS2299.1	ENSP00000261024	Q9NP59		UPI0000034CC2	NM_014585.5	deleterious(0.01)		8/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR11660,hmmpanther:PTHR11660:SF47,Gene3D:1.20.1250.20,Pfam_domain:PF06963,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	189562003	189562003	C	A	1	0	0	0	0	1	0	0	0	14906	478	17	2		2	SLC40A1	2	189562003	Missense_Mutation	SNP	C	C3N-00551_TP	87788	189562003	52631526	109	16788											
SATB2	0	.	GRCh38	chr2	199328815	199328815	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgctccacttctggcagAttgaggaaattctgcatggc	8	12	10	11	1	3	2	0	1	3	1	5	3	4	3	1	3	1	3	1	3	1	3	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.1269T>A	p.Asn423Lys	p.N423K	ENST00000417098	8/11	512	480	32	558	558	0	strelka-varscan-mutect	SATB2,missense_variant,p.Asn364Lys,ENST00000443023,;SATB2,missense_variant,p.Asn423Lys,ENST00000417098,NM_001172509.1;SATB2,missense_variant,p.Asn423Lys,ENST00000260926,NM_001172517.1;SATB2,missense_variant,p.Asn305Lys,ENST00000614512,;SATB2,missense_variant,p.Asn423Lys,ENST00000457245,NM_015265.3;SATB2,missense_variant,p.Asn305Lys,ENST00000428695,;RP11-486F17.1,non_coding_transcript_exon_variant,,ENST00000489557,;SATB2,non_coding_transcript_exon_variant,,ENST00000473517,;	T	ENST00000417098	Transcript	missense_variant	2086/5730	1269/2202	423/733	N/K	aaT/aaA		1		-1	SATB2	HGNC	HGNC:21637	protein_coding	YES	CCDS2327.1	ENSP00000401112	Q9UPW6	A0A024R3U6	UPI00000336B1	NM_001172509.1	deleterious(0.02)		8/11		PROSITE_profiles:PS51042,hmmpanther:PTHR15116:SF15,hmmpanther:PTHR15116,Gene3D:1.10.260.40,Pfam_domain:PF02376,SMART_domains:SM01109,Superfamily_domains:SSF47413																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	53	199328815	199328815	A	T	1	0	0	0	0	1	0	0	0	14115	330	12	4		4	SATB2	2	199328815	Missense_Mutation	SNP	A	C3N-00551_TP	9766812	199328815	42864714	110	16789											
DYTN	0	.	GRCh38	chr2	206663347	206663347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaatggtcaaccttgttccCcacattttgaaaggaagaag	14	10	9	8	0	1	3	1	1	0	2	2	4	2	4	3	2	1	1	3	2	5	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1189G>T	p.Gly397Trp	p.G397W	ENST00000452335	11/12	99	82	17	113	113	0	strelka-varscan-mutect	DYTN,missense_variant,p.Gly397Trp,ENST00000452335,NM_001093730.1;	A	ENST00000452335	Transcript	missense_variant	1306/2051	1189/1737	397/578	G/W	Ggg/Tgg		1		-1	DYTN	HGNC	HGNC:23279	protein_coding	YES	CCDS46502.1	ENSP00000396593	A2CJ06		UPI0000EE0AB9	NM_001093730.1	deleterious(0)		11/12		hmmpanther:PTHR11915:SF282,hmmpanther:PTHR11915																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	206663347	206663347	C	A	1	0	0	0	0	1	0	0	0	4684	623	22	2		2	DYTN	2	206663347	Missense_Mutation	SNP	C	C3N-00551_TP	7334532	206663347	35530182	111	16790											
MAP2	0	.	GRCh38	chr2	209694246	209694246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtttaggacttggtggtagGtctgcaatagaacaaagaag	14	10	13	4	0	1	2	0	0	1	2	1	3	1	3	0	4	2	3	0	4	7	5	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2076G>T	p.Arg692Ser	p.R692S	ENST00000360351	7/15	123	112	11	144	144	0	strelka-varscan-mutect	MAP2,missense_variant,p.Arg692Ser,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Arg688Ser,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,NM_031845.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;	T	ENST00000360351	Transcript	missense_variant	2582/9711	2076/5484	692/1827	R/S	agG/agT		1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3	deleterious(0.04)		7/15		Low_complexity_(Seg):seg,hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15,Pfam_domain:PF08377																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	53	209694246	209694246	G	T	1	0	0	0	0	1	0	0	0	9157	1252	44	2		2	MAP2	2	209694246	Missense_Mutation	SNP	G	C3N-00551_TP	3030899	209694246	32499283	112	16791											
MAP2	0	.	GRCh38	chr2	209725747	209725747	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatagacctaagccatgtGacatccaaatgtggctctct	14	10	7	10	0	1	2	0	1	1	1	3	2	2	2	3	1	1	1	3	1	5	2	rs770619493		C3N-00551_TP	C3N-00551_NB	G	G																c.5112G>C	p.=	p.V1704V	ENST00000360351	13/15	101	92	9	171	171	0	strelka-varscan-mutect	MAP2,synonymous_variant,p.=,ENST00000360351,NM_002374.3;MAP2,synonymous_variant,p.=,ENST00000447185,;MAP2,synonymous_variant,p.=,ENST00000392194,NM_031845.2;MAP2,synonymous_variant,p.=,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,synonymous_variant,p.=,ENST00000361559,;RNA5SP118,upstream_gene_variant,,ENST00000410385,;MAP2,non_coding_transcript_exon_variant,,ENST00000475600,;	C	ENST00000360351	Transcript	synonymous_variant	5618/9711	5112/5484	1704/1827	V	gtG/gtC	rs770619493	1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3			13/15		PROSITE_profiles:PS51491,hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15,Pfam_domain:PF00418																	LOW	1	SNV	5			1										PASS		rs770619493	.												C	2	2	53	209725747	209725747	G	C	1	0	0	0	0	0	0	0	1	9157	1277	45	4		4	MAP2	2	209725747	Silent	SNP	G	C3N-00551_TP	31501	209725747	32467782	113	16792											
SPAG16	0	.	GRCh38	chr2	214149138	214149138	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtttatcttatattttgaAgggtcacatgatagcatcct	10	18	7	6	0	2	2	1	2	1	0	3	2	3	2	1	1	1	2	1	1	5	8	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.1594-2A>T		p.X532_splice	ENST00000331683		102	85	17	137	137	0	varscan-mutect	SPAG16,splice_acceptor_variant,,ENST00000331683,NM_024532.4;SPAG16,splice_acceptor_variant,,ENST00000451561,;SPAG16,splice_acceptor_variant,,ENST00000480494,;SPAG16,splice_acceptor_variant,,ENST00000452556,;SPAG16,splice_acceptor_variant,,ENST00000406979,;	T	ENST00000331683	Transcript	splice_acceptor_variant	-/2177	1594/1896	532/631				1		1	SPAG16	HGNC	HGNC:23225	protein_coding	YES	CCDS2396.1	ENSP00000332592	Q8N0X2		UPI00001AFF12	NM_024532.4				14/15																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	53	214149138	214149138	A	T	1	0	0	0	0	0	0	1	0	15309	86	3	4		4	SPAG16	2	214149138	Splice_Site	SNP	A	C3N-00551_TP	4423391	214149138	28044391	114	16793											
ABCA12	0	.	GRCh38	chr2	215049736	215049736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggtccaagagaaggcatCatccacaatgtatcctgaat	16	8	8	9	0	1	2	1	1	0	1	4	3	4	2	3	2	0	2	3	2	6	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.583G>A	p.Asp195Asn	p.D195N	ENST00000272895	6/53	271	250	21	312	312	0	strelka-varscan-mutect	ABCA12,missense_variant,p.Asp195Asn,ENST00000272895,NM_173076.2;AC072062.3,intron_variant,,ENST00000628464,;AC072062.3,intron_variant,,ENST00000626134,;AC072062.3,intron_variant,,ENST00000626771,;	T	ENST00000272895	Transcript	missense_variant	803/9100	583/7788	195/2595	D/N	Gat/Aat		1		-1	ABCA12	HGNC	HGNC:14637	protein_coding	YES	CCDS33372.1	ENSP00000272895	Q86UK0		UPI000019AB7A	NM_173076.2	tolerated(0.58)		6/53																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	215049736	215049736	C	T	1	0	0	0	0	1	0	0	0	34	826	29	3		3	ABCA12	2	215049736	Missense_Mutation	SNP	C	C3N-00551_TP	900598	215049736	27143793	115	16794											
RUFY4	0	.	GRCh38	chr2	218089274	218089274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggaccgcctgtggcagAggctccagcatctctcttcc	8	8	11	14	1	2	2	0	0	2	2	5	3	4	3	4	3	1	3	4	3	1	1	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.1585A>G	p.Arg529Gly	p.R529G	ENST00000374155	11/12	134	114	20	203	203	0	strelka-varscan-mutect	RUFY4,missense_variant,p.Arg529Gly,ENST00000374155,;RUFY4,missense_variant,p.Arg509Gly,ENST00000344321,NM_198483.3;RUFY4,3_prime_UTR_variant,,ENST00000457754,;	G	ENST00000374155	Transcript	missense_variant	1995/2977	1585/1824	529/607	R/G	Agg/Ggg		1		1	RUFY4	HGNC	HGNC:24804	protein_coding	YES		ENSP00000363270		C9J235	UPI000035E73D		deleterious(0)		11/12																			MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	53	218089274	218089274	A	G	1	0	0	0	0	1	0	0	0	14003	295	11	5		5	RUFY4	2	218089274	Missense_Mutation	SNP	A	C3N-00551_TP	3039538	218089274	24104255	116	16795											
WNT10A	0	.	GRCh38	chr2	218889984	218889984	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctgggtctttaaccacagGtttccgagagagcgcttttg	7	14	11	9	2	2	1	0	0	2	1	3	3	3	1	2	2	2	2	2	2	1	6	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.377G>T	p.Gly126Val	p.G126V	ENST00000258411	3/4	306	274	32	253	252	1	strelka-varscan-mutect	WNT10A,missense_variant,p.Gly126Val,ENST00000258411,NM_025216.2;WNT10A,intron_variant,,ENST00000458582,;WNT10A,splice_region_variant,,ENST00000483911,;WNT10A,upstream_gene_variant,,ENST00000489887,;	T	ENST00000258411	Transcript	missense_variant,splice_region_variant	1010/2547	377/1254	126/417	G/V	gGt/gTt		1		1	WNT10A	HGNC	HGNC:13829	protein_coding	YES	CCDS2426.1	ENSP00000258411	Q9GZT5		UPI0000032F2A	NM_025216.2	deleterious(0)		3/4		Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF89,SMART_domains:SM00097																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	218889984	218889984	G	T	1	0	0	0	0	1	0	0	0	17938	1275	44	2		2	WNT10A	2	218889984	Missense_Mutation	SNP	G	C3N-00551_TP	800710	218889984	23303545	117	16796											
ATG9A	0	.	GRCh38	chr2	219222645	219222645	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtcaccaggaacacacCtcagactcagattgtaagga	14	6	8	13	0	3	2	3	0	0	2	3	4	3	4	3	2	1	1	3	2	2	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1848G>T	p.Glu616Asp	p.E616D	ENST00000409618	11/16	126	117	9	142	142	0	strelka-varscan-mutect	ATG9A,missense_variant,p.Glu616Asp,ENST00000409618,;ATG9A,missense_variant,p.Glu616Asp,ENST00000396761,NM_024085.4;ATG9A,missense_variant,p.Glu616Asp,ENST00000361242,NM_001077198.2;ATG9A,missense_variant,p.Glu555Asp,ENST00000409422,;ATG9A,missense_variant,p.Glu175Asp,ENST00000429920,;ABCB6,upstream_gene_variant,,ENST00000265316,NM_005689.2;ABCB6,upstream_gene_variant,,ENST00000295750,;ATG9A,downstream_gene_variant,,ENST00000436856,;ATG9A,downstream_gene_variant,,ENST00000432520,;ATG9A,downstream_gene_variant,,ENST00000428226,;ATG9A,downstream_gene_variant,,ENST00000457841,;ATG9A,downstream_gene_variant,,ENST00000443140,;ATG9A,downstream_gene_variant,,ENST00000439812,;ATG9A,downstream_gene_variant,,ENST00000431715,;ATG9A,downstream_gene_variant,,ENST00000434939,;ATG9A,downstream_gene_variant,,ENST00000455079,;ATG9A,downstream_gene_variant,,ENST00000488833,;ATG9A,missense_variant,p.Glu32Asp,ENST00000446716,;ATG9A,splice_region_variant,,ENST00000409033,;ABCB6,upstream_gene_variant,,ENST00000448398,;ATG9A,upstream_gene_variant,,ENST00000475339,;ABCB6,upstream_gene_variant,,ENST00000417678,;ATG9A,downstream_gene_variant,,ENST00000466217,;ATG9A,downstream_gene_variant,,ENST00000486766,;ATG9A,downstream_gene_variant,,ENST00000456708,;ATG9A,downstream_gene_variant,,ENST00000412355,;ABCB6,upstream_gene_variant,,ENST00000452545,;	A	ENST00000409618	Transcript	missense_variant,splice_region_variant	2288/4025	1848/2520	616/839	E/D	gaG/gaT		1		-1	ATG9A	HGNC	HGNC:22408	protein_coding	YES	CCDS42820.1	ENSP00000386710	Q7Z3C6	A0A024R438	UPI0000209615		tolerated(0.36)		11/16		Low_complexity_(Seg):seg,hmmpanther:PTHR13038,hmmpanther:PTHR13038:SF13																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	53	219222645	219222645	C	A	1	0	0	0	0	1	0	0	0	1254	695	24	2		2	ATG9A	2	219222645	Missense_Mutation	SNP	C	C3N-00551_TP	332661	219222645	22970884	118	16797											
PTPRN	0	.	GRCh38	chr2	219309222	219309222	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagtttcctcctgaccgtgGgcactaacggcgctgcagcc	7	8	11	15	3	0	1	0	1	0	0	2	1	2	1	4	2	3	4	4	2	2	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.111C>A	p.=	p.A37A	ENST00000295718	1/23	101	88	13	163	161	2	strelka-varscan-mutect	PTPRN,synonymous_variant,p.=,ENST00000295718,NM_002846.3;PTPRN,synonymous_variant,p.=,ENST00000409251,NM_001199763.1;PTPRN,intron_variant,,ENST00000446182,;PTPRN,intron_variant,,ENST00000451506,;PTPRN,upstream_gene_variant,,ENST00000423636,NM_001199764.1;PTPRN,upstream_gene_variant,,ENST00000440552,;PTPRN,upstream_gene_variant,,ENST00000412847,;PTPRN,upstream_gene_variant,,ENST00000442029,;PTPRN,upstream_gene_variant,,ENST00000468454,;PTPRN,synonymous_variant,p.=,ENST00000606213,;PTPRN,non_coding_transcript_exon_variant,,ENST00000484986,;PTPRN,upstream_gene_variant,,ENST00000462351,;PTPRN,upstream_gene_variant,,ENST00000477819,;	T	ENST00000295718	Transcript	synonymous_variant	352/3784	111/2940	37/979	A	gcC/gcA		1		-1	PTPRN	HGNC	HGNC:9676	protein_coding	YES	CCDS2440.1	ENSP00000295718	Q16849		UPI0000132999	NM_002846.3			1/23																			LOW	1	SNV	1			1										PASS		rs1024048106	.												T	2	4	53	219309222	219309222	G	T	1	0	0	0	0	0	0	0	1	12961	1246	43	2		2	PTPRN	2	219309222	Silent	SNP	G	C3N-00551_TP	86577	219309222	22884307	119	16798											
SPEG	0	.	GRCh38	chr2	219451802	219451802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgcctcactgaccgtgaGacccggtagggagcccatca	8	6	12	15	3	2	2	2	2	0	1	2	4	2	3	5	2	2	1	5	2	1	1	rs754947125		C3N-00551_TP	C3N-00551_NB	G	G																c.2435G>T	p.Arg812Ile	p.R812I	ENST00000312358	6/41	53	47	6	48	48	0	strelka-varscan-mutect	SPEG,missense_variant,p.Arg812Ile,ENST00000312358,NM_005876.4;SPEG,missense_variant,p.Arg708Ile,ENST00000396698,;SPEG,downstream_gene_variant,,ENST00000431523,;SPEG,downstream_gene_variant,,ENST00000435853,;SPEG,downstream_gene_variant,,ENST00000451076,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,non_coding_transcript_exon_variant,,ENST00000462545,;SPEG,non_coding_transcript_exon_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000491248,;SPEG,downstream_gene_variant,,ENST00000497065,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,downstream_gene_variant,,ENST00000452101,;SPEG,downstream_gene_variant,,ENST00000409595,;	T	ENST00000312358	Transcript	missense_variant	2567/10782	2435/9804	812/3267	R/I	aGa/aTa	rs754947125	1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	deleterious(0)		6/41		Gene3D:2.60.40.10,Pfam_domain:PF16650,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs754947125	.												T	3	4	53	219451802	219451802	G	T	1	0	0	0	0	1	0	0	0	15387	956	33	2		2	SPEG	2	219451802	Missense_Mutation	SNP	G	C3N-00551_TP	142580	219451802	22741727	120	16799											
SPEG	0	.	GRCh38	chr2	219489447	219489447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccccacccctagctcctgCtgcccccacacccccgtcag	5	5	7	24	1	1	0	1	0	0	0	2	0	2	0	9	1	3	2	9	1	1	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.8429C>A	p.Ala2810Asp	p.A2810D	ENST00000312358	36/41	157	146	11	168	168	0	strelka-varscan-mutect	SPEG,missense_variant,p.Ala2810Asp,ENST00000312358,NM_005876.4;SPEG,upstream_gene_variant,,ENST00000412982,;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	A	ENST00000312358	Transcript	missense_variant	8561/10782	8429/9804	2810/3267	A/D	gCt/gAt		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	tolerated(0.18)		36/41		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF728,Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	53	219489447	219489447	C	A	1	0	0	0	0	1	0	0	0	15387	797	28	2		2	SPEG	2	219489447	Missense_Mutation	SNP	C	C3N-00551_TP	37645	219489447	22704082	121	16800											
CHPF	0	.	GRCh38	chr2	219539669	219539669	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggctgccacatagtcggagTtgtagaagcaggcctcgctg	8	8	15	10	2	0	1	0	0	0	1	2	2	0	2	2	3	2	5	2	3	3	3	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.2042A>T	p.Asn681Ile	p.N681I	ENST00000243776	4/4	210	181	29	165	165	0	strelka-varscan-mutect	CHPF,missense_variant,p.Asn681Ile,ENST00000243776,NM_024536.5;CHPF,missense_variant,p.Asn519Ile,ENST00000535926,NM_001195731.1;ASIC4,downstream_gene_variant,,ENST00000358078,;ASIC4,downstream_gene_variant,,ENST00000347842,NM_182847.2;TMEM198,upstream_gene_variant,,ENST00000344458,NM_001303098.1;TMEM198,upstream_gene_variant,,ENST00000373883,NM_001005209.2;CHPF,downstream_gene_variant,,ENST00000373891,;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000474489,;	A	ENST00000243776	Transcript	missense_variant	2291/3013	2042/2328	681/775	N/I	aAc/aTc		1		-1	CHPF	HGNC	HGNC:24291	protein_coding	YES	CCDS2443.1	ENSP00000243776	Q8IZ52		UPI00001AE6D6	NM_024536.5	deleterious(0)		4/4		Pfam_domain:PF05679,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	219539669	219539669	T	A	1	0	0	0	0	1	0	0	0	3128	1725	60	4		4	CHPF	2	219539669	Missense_Mutation	SNP	T	C3N-00551_TP	50222	219539669	22653860	122	16801											
CUL3	0	.	GRCh38	chr2	224482039	224482039	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggactgtagggctctaaCaagctctctttcagggatat	10	11	12	8	0	3	0	1	0	2	0	4	3	3	2	0	3	2	3	0	3	4	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1882G>C	p.Val628Leu	p.V628L	ENST00000264414	14/16	147	136	11	322	322	0	strelka-mutect	CUL3,missense_variant,p.Val628Leu,ENST00000264414,NM_003590.4;CUL3,missense_variant,p.Val562Leu,ENST00000344951,NM_001257197.1;CUL3,missense_variant,p.Val604Leu,ENST00000409777,;CUL3,missense_variant,p.Val604Leu,ENST00000409096,NM_001257198.1;CUL3,missense_variant,p.Val202Leu,ENST00000617432,;CUL3,intron_variant,,ENST00000451538,;CUL3,non_coding_transcript_exon_variant,,ENST00000536702,;CUL3,intron_variant,,ENST00000454323,;CUL3,upstream_gene_variant,,ENST00000497715,;	G	ENST00000264414	Transcript	missense_variant	2221/6741	1882/2307	628/768	V/L	Gtt/Ctt		1		-1	CUL3	HGNC	HGNC:2553	protein_coding	YES	CCDS2462.1	ENSP00000264414	Q13618	A0A024R475	UPI0000001C83	NM_003590.4	tolerated(0.16)		14/16		PROSITE_profiles:PS50069,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF85,Pfam_domain:PF00888,Gene3D:1.10.10.10,Superfamily_domains:SSF75632																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	224482039	224482039	C	G	1	0	0	0	0	1	0	0	0	3866	478	17	4		4	CUL3	2	224482039	Missense_Mutation	SNP	C	C3N-00551_TP	4942370	224482039	17711490	123	16802											
NYAP2	0	.	GRCh38	chr2	225627037	225627037	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtcaaagctcaggaatGggatggaacaccagggacac	13	5	13	10	0	2	0	2	0	0	0	2	4	2	4	2	4	2	1	2	4	3	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1739G>A	p.Trp580Ter	p.W580*	ENST00000636099	6/7	402	355	47	502	502	0	strelka-varscan-mutect	NYAP2,stop_gained,p.Trp580Ter,ENST00000636099,;NYAP2,stop_gained,p.Trp580Ter,ENST00000272907,NM_020864.1;	A	ENST00000636099	Transcript	stop_gained	2785/5461	1739/1962	580/653	W/*	tGg/tAg		1		1	NYAP2	HGNC	HGNC:29291	protein_coding	YES	CCDS46529.1	ENSP00000490942			UPI00001C1DB6				6/7		hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF1,Pfam_domain:PF15452																	HIGH	1	SNV				1										PASS		.	.												A	4	1	53	225627037	225627037	G	A	1	0	0	0	0	0	1	0	0	10873	1357	47	3		3	NYAP2	2	225627037	Nonsense_Mutation	SNP	G	C3N-00551_TP	1144998	225627037	16566492	124	16803											
SLC16A14	0	.	GRCh38	chr2	230046224	230046224	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtcccaaagtagcccgaaTaccagtcctcgaagcccttc	10	8	7	16	2	0	0	0	0	0	0	4	2	2	0	5	0	3	1	5	0	5	3	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.902A>T	p.Tyr301Phe	p.Y301F	ENST00000295190	4/5	141	123	18	193	193	0	strelka-varscan-mutect	SLC16A14,missense_variant,p.Tyr301Phe,ENST00000295190,NM_152527.4;SLC16A14,missense_variant,p.Tyr301Phe,ENST00000457406,;SLC16A14,missense_variant,p.Tyr301Phe,ENST00000412034,;	A	ENST00000295190	Transcript	missense_variant	1361/4398	902/1533	301/510	Y/F	tAt/tTt		1		-1	SLC16A14	HGNC	HGNC:26417	protein_coding	YES	CCDS2473.1	ENSP00000295190	Q7RTX9		UPI000004EE99	NM_152527.4	deleterious(0.04)		4/5		Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF121,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	230046224	230046224	T	A	1	0	0	0	0	1	0	0	0	14673	1406	49	4		4	SLC16A14	2	230046224	Missense_Mutation	SNP	T	C3N-00551_TP	4419187	230046224	12147305	125	16804											
CAB39	0	.	GRCh38	chr2	230790996	230790996	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actctataatagtgggctccTtagcaccctggtagctgatt	9	13	9	10	0	1	1	0	1	1	0	2	1	2	1	2	2	2	4	2	2	5	6	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.239T>A	p.Leu80His	p.L80H	ENST00000258418	3/9	125	114	11	167	167	0	strelka-varscan-mutect	CAB39,missense_variant,p.Leu80His,ENST00000258418,NM_016289.3;CAB39,missense_variant,p.Leu80His,ENST00000409788,NM_001130849.1;CAB39,missense_variant,p.Leu80His,ENST00000614925,;CAB39,missense_variant,p.Leu80His,ENST00000410084,NM_001130850.1;CAB39,downstream_gene_variant,,ENST00000484398,;CAB39,non_coding_transcript_exon_variant,,ENST00000478152,;	A	ENST00000258418	Transcript	missense_variant	668/3826	239/1026	80/341	L/H	cTt/cAt		1		1	CAB39	HGNC	HGNC:20292	protein_coding	YES	CCDS2478.1	ENSP00000258418	Q9Y376	A0A024R496	UPI000003622D	NM_016289.3	deleterious(0)		3/9		Gene3D:1.25.10.10,Pfam_domain:PF08569,hmmpanther:PTHR10182,hmmpanther:PTHR10182:SF11,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	230790996	230790996	T	A	1	0	0	0	0	1	0	0	0	2212	1609	56	4		4	CAB39	2	230790996	Missense_Mutation	SNP	T	C3N-00551_TP	744772	230790996	11402533	126	16805											
ALPPL2	0	.	GRCh38	chr2	232409341	232409341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctgcagggctggcccCtggcaaggcccgggacagga	6	6	15	14	1	2	0	0	0	2	0	3	2	2	2	3	6	1	3	3	6	1	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1193C>A	p.Pro398His	p.P398H	ENST00000295453	10/11	215	203	12	226	226	0	varscan-mutect	ALPPL2,missense_variant,p.Pro398His,ENST00000295453,NM_031313.2;	A	ENST00000295453	Transcript	missense_variant	1245/2493	1193/1599	398/532	P/H	cCt/cAt		1		1	ALPPL2	HGNC	HGNC:441	protein_coding	YES	CCDS2491.1	ENSP00000295453	P10696		UPI000013E259	NM_031313.2	deleterious(0.01)		10/11		hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF34,Pfam_domain:PF00245,Gene3D:3.40.720.10,SMART_domains:SM00098,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	232409341	232409341	C	A	1	0	0	0	0	1	0	0	0	649	681	24	2		2	ALPPL2	2	232409341	Missense_Mutation	SNP	C	C3N-00551_TP	1618345	232409341	9784188	127	16806											
NEU2	0	.	GRCh38	chr2	233034668	233034668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcccagagcaccaatgacGggcttgatttccaggagtct	10	8	12	11	1	1	3	0	2	1	1	2	4	2	4	3	3	1	2	3	3	1	2	rs774136106		C3N-00551_TP	C3N-00551_NB	G	G																c.754G>T	p.Gly252Trp	p.G252W	ENST00000233840	2/2	40	35	5	49	49	0	strelka-varscan-mutect	NEU2,missense_variant,p.Gly252Trp,ENST00000233840,NM_005383.2;	T	ENST00000233840	Transcript	missense_variant	754/1143	754/1143	252/380	G/W	Ggg/Tgg	rs774136106,COSM4706511	1		1	NEU2	HGNC	HGNC:7759	protein_coding	YES	CCDS2501.1	ENSP00000233840	Q9Y3R4		UPI000013C98F	NM_005383.2	deleterious(0)		2/2		hmmpanther:PTHR10628:SF6,hmmpanther:PTHR10628,Gene3D:2.120.10.10,Pfam_domain:PF13088,Superfamily_domains:SSF50939											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs774136106	.												T	3	4	53	233034668	233034668	G	T	1	0	0	0	0	1	0	0	0	10377	1116	39	1		1	NEU2	2	233034668	Missense_Mutation	SNP	G	C3N-00551_TP	625327	233034668	9158861	128	16807											
INPP5D	0	.	GRCh38	chr2	233204256	233204256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaagcctgctcccaggaagGaccaggaatcccccaaaatg	13	5	9	14	0	0	0	0	0	0	0	2	3	2	3	5	3	2	1	5	3	5	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.3106G>T	p.Asp1036Tyr	p.D1036Y	ENST00000445964	26/27	163	132	31	190	190	0	strelka-varscan-mutect	INPP5D,missense_variant,p.Asp1035Tyr,ENST00000359570,NM_005541.4;INPP5D,missense_variant,p.Asp1036Tyr,ENST00000445964,NM_001017915.2;INPP5D,missense_variant,p.Asp657Tyr,ENST00000415617,;INPP5D,intron_variant,,ENST00000417661,;RN7SL32P,upstream_gene_variant,,ENST00000580514,;INPP5D,upstream_gene_variant,,ENST00000491070,;	T	ENST00000445964	Transcript	missense_variant	3187/4845	3106/3570	1036/1189	D/Y	Gac/Tac		1		1	INPP5D	HGNC	HGNC:6079	protein_coding	YES	CCDS74672.1	ENSP00000405338	Q92835		UPI000006FD6D	NM_001017915.2	deleterious(0)		26/27		hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF69																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	233204256	233204256	G	T	1	0	0	0	0	1	0	0	0	7659	1174	41	2		2	INPP5D	2	233204256	Missense_Mutation	SNP	G	C3N-00551_TP	169588	233204256	8989273	129	16808											
ESPNL	0	.	GRCh38	chr2	238128807	238128807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacgggctggtgcccacgcGggatgagcgcggccagccca	6	3	17	15	6	0	1	0	1	0	0	0	3	0	2	3	4	3	1	3	4	0	0			C3N-00551_TP	C3N-00551_NB	G	G																c.1316G>T	p.Arg439Leu	p.R439L	ENST00000343063	8/9	199	183	16	202	202	0	strelka-varscan-mutect	ESPNL,missense_variant,p.Arg439Leu,ENST00000343063,NM_194312.2;ESPNL,missense_variant,p.Arg395Leu,ENST00000409169,;ESPNL,missense_variant,p.Arg71Leu,ENST00000409506,NM_001308370.1;ESPNL,missense_variant,p.Arg71Leu,ENST00000423032,;ESPNL,5_prime_UTR_variant,,ENST00000612395,;ESPNL,upstream_gene_variant,,ENST00000477241,;	T	ENST00000343063	Transcript	missense_variant	1579/4836	1316/3018	439/1005	R/L	cGg/cTg	COSM720968	1		1	ESPNL	HGNC	HGNC:27937	protein_coding	YES	CCDS2525.1	ENSP00000339115	Q6ZVH7		UPI000022BC90	NM_194312.2	deleterious(0.04)		8/9		hmmpanther:PTHR24153:SF0,hmmpanther:PTHR24153											1						MODERATE	1	SNV	2		1	1										PASS		rs1044194444	.												T	3	4	53	238128807	238128807	G	T	1	0	0	0	0	1	0	0	0	5117	1116	39	1		1	ESPNL	2	238128807	Missense_Mutation	SNP	G	C3N-00551_TP	4924551	238128807	4064722	130	16809											
ESPNL	0	.	GRCh38	chr2	238131189	238131189	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccgcccggcagctgcggcgGctgagccggcagccccgcgg	3	2	17	19	7	0	1	0	1	0	0	0	1	0	1	5	5	4	4	5	5	0	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2475G>T	p.=	p.R825R	ENST00000343063	9/9	201	171	30	199	199	0	strelka-varscan-mutect	ESPNL,synonymous_variant,p.=,ENST00000343063,NM_194312.2;ESPNL,synonymous_variant,p.=,ENST00000409169,;ESPNL,synonymous_variant,p.=,ENST00000409506,NM_001308370.1;ESPNL,5_prime_UTR_variant,,ENST00000612395,;ESPNL,downstream_gene_variant,,ENST00000423032,;ESPNL,non_coding_transcript_exon_variant,,ENST00000477241,;	T	ENST00000343063	Transcript	synonymous_variant	2738/4836	2475/3018	825/1005	R	cgG/cgT		1		1	ESPNL	HGNC	HGNC:27937	protein_coding	YES	CCDS2525.1	ENSP00000339115	Q6ZVH7		UPI000022BC90	NM_194312.2			9/9		hmmpanther:PTHR24153:SF0,hmmpanther:PTHR24153																	LOW	1	SNV	2			1										PASS		rs1356154197	.												T	2	4	53	238131189	238131189	G	T	1	0	0	0	0	0	0	0	1	5117	1190	42	2		2	ESPNL	2	238131189	Silent	SNP	G	C3N-00551_TP	2382	238131189	4062340	131	16810											
AGXT	0	.	GRCh38	chr2	240875984	240875984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacagcctgagagagagcCtggccctcattgcggaacag	10	7	13	11	1	1	2	1	1	0	2	1	5	1	3	3	2	5	1	3	2	2	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.826C>T	p.=	p.L276L	ENST00000307503	8/11	361	315	46	414	414	0	strelka-varscan-mutect	AGXT,synonymous_variant,p.=,ENST00000307503,NM_000030.2;AGXT,non_coding_transcript_exon_variant,,ENST00000476698,;AGXT,upstream_gene_variant,,ENST00000470255,;AGXT,downstream_gene_variant,,ENST00000472436,;	T	ENST00000307503	Transcript	synonymous_variant	1213/1865	826/1179	276/392	L	Ctg/Ttg		1		1	AGXT	HGNC	HGNC:341	protein_coding	YES	CCDS2543.1	ENSP00000302620	P21549		UPI0000135E9B	NM_000030.2			8/11		Gene3D:3.40.640.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF000524,hmmpanther:PTHR21152,hmmpanther:PTHR21152:SF22,Superfamily_domains:SSF53383																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	240875984	240875984	C	T	1	0	0	0	0	0	0	0	1	483	680	24	3		3	AGXT	2	240875984	Silent	SNP	C	C3N-00551_TP	2744795	240875984	1317545	132	16811											
CHL1	0	.	GRCh38	chr3	401678	401678	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattcagtcagtaaaagaTgaaacctttggtgaatacag	17	10	9	5	0	2	3	2	2	0	1	2	4	2	3	1	1	2	1	1	1	6	4	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.3438T>A	p.Asp1146Glu	p.D1146E	ENST00000256509	27/28	53	47	6	91	91	0	strelka-mutect	CHL1,missense_variant,p.Asp1146Glu,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Asp1093Glu,ENST00000620033,NM_001253388.1;CHL1,missense_variant,p.Asp1130Glu,ENST00000397491,NM_001253387.1;CHL1,missense_variant,p.Asp280Glu,ENST00000445697,;CHL1,downstream_gene_variant,,ENST00000453040,;	A	ENST00000256509	Transcript	missense_variant	4080/8023	3438/3675	1146/1224	D/E	gaT/gaA		1		1	CHL1	HGNC	HGNC:1939	protein_coding	YES	CCDS2556.1	ENSP00000256509	O00533		UPI000013CF0F	NM_006614.3	tolerated(0.07)		27/28		Pfam_domain:PF13882,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF653																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	401678	401678	T	A	1	0	0	0	0	1	0	0	0	3108	1461	51	4		4	CHL1	3	401678	Missense_Mutation	SNP	T	C3N-00551_TP		401678	197893881	133	16812											
GPD1L	0	.	GRCh38	chr3	32158920	32158920	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcgacggcctccgctgTggagacaacaccaaagcggc	9	6	12	14	4	1	1	0	0	1	1	2	3	2	1	3	3	3	1	3	3	2	1	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.663T>A	p.Cys221Ter	p.C221*	ENST00000282541	6/8	372	345	27	417	417	0	strelka-varscan-mutect	GPD1L,stop_gained,p.Cys221Ter,ENST00000282541,NM_015141.3;GPD1L,downstream_gene_variant,,ENST00000425459,;GPD1L,3_prime_UTR_variant,,ENST00000428684,;GPD1L,non_coding_transcript_exon_variant,,ENST00000474846,;GPD1L,non_coding_transcript_exon_variant,,ENST00000496151,;	A	ENST00000282541	Transcript	stop_gained	864/4060	663/1056	221/351	C/*	tgT/tgA		1		1	GPD1L	HGNC	HGNC:28956	protein_coding	YES	CCDS33729.1	ENSP00000282541	Q8N335		UPI000006E26D	NM_015141.3			6/8		Gene3D:1.10.1040.10,Pfam_domain:PF07479,PIRSF_domain:PIRSF000114,Prints_domain:PR00077,hmmpanther:PTHR11728,hmmpanther:PTHR11728:SF7,Superfamily_domains:SSF48179,TIGRFAM_domain:TIGR03376																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	53	32158920	32158920	T	A	1	0	0	0	0	0	1	0	0	6507	1702	59	4		4	GPD1L	3	32158920	Nonsense_Mutation	SNP	T	C3N-00551_TP	31757242	32158920	166136639	134	16813											
ACVR2B	0	.	GRCh38	chr3	38481407	38481407	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacagccgtgctggctgActttggcttggctgttcgat	4	13	12	12	2	1	1	1	1	0	0	2	2	1	1	2	3	2	5	2	3	0	3			C3N-00551_TP	C3N-00551_NB	A	A																c.1016A>T	p.Asp339Val	p.D339V	ENST00000352511	8/11	370	296	74	459	459	0	strelka-varscan-mutect	ACVR2B,missense_variant,p.Asp339Val,ENST00000352511,NM_001106.3;ACVR2B,non_coding_transcript_exon_variant,,ENST00000461232,;ACVR2B,non_coding_transcript_exon_variant,,ENST00000465020,;	T	ENST00000352511	Transcript	missense_variant	1488/11821	1016/1539	339/512	D/V	gAc/gTc	COSM1738817,COSM1738818	1		1	ACVR2B	HGNC	HGNC:174	protein_coding	YES	CCDS2679.1	ENSP00000340361	Q13705		UPI00001AF0AE	NM_001106.3	deleterious(0)		8/11		Gene3D:1.10.510.10,Pfam_domain:PF00069,Prints_domain:PR00653,PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF57,Superfamily_domains:SSF56112											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	53	38481407	38481407	A	T	1	0	0	0	0	1	0	0	0	268	275	10	4		4	ACVR2B	3	38481407	Missense_Mutation	SNP	A	C3N-00551_TP	6322487	38481407	159814152	135	16814											
SCN5A	0	.	GRCh38	chr3	38560286	38560286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtagttcaaaggcaagtctCcctctgtctggttgatgcac	8	13	10	10	0	4	1	1	1	3	0	5	1	4	1	1	2	1	5	1	2	3	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.4106G>T	p.Gly1369Val	p.G1369V	ENST00000413689	23/28	352	299	53	400	400	0	strelka-varscan-mutect	SCN5A,missense_variant,p.Gly1369Val,ENST00000413689,NM_001099404.1;SCN5A,missense_variant,p.Gly1369Val,ENST00000333535,NM_198056.2;SCN5A,missense_variant,p.Gly1369Val,ENST00000425664,NM_001099405.1;SCN5A,missense_variant,p.Gly1368Val,ENST00000423572,NM_000335.4;SCN5A,missense_variant,p.Gly1315Val,ENST00000451551,NM_001160161.1;SCN5A,missense_variant,p.Gly1369Val,ENST00000414099,;SCN5A,missense_variant,p.Gly1368Val,ENST00000455624,NM_001160160.1;SCN5A,missense_variant,p.Gly1315Val,ENST00000450102,;SCN5A,missense_variant,p.Gly1315Val,ENST00000449557,;	A	ENST00000413689	Transcript	missense_variant	4300/8504	4106/6051	1369/2016	G/V	gGa/gTa		1		-1	SCN5A	HGNC	HGNC:10593	protein_coding	YES	CCDS46799.1	ENSP00000410257		H9KVD2	UPI0001572CC8	NM_001099404.1	deleterious(0.04)		23/28		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF206																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	53	38560286	38560286	C	A	1	0	0	0	0	1	0	0	0	14191	855	30	2		2	SCN5A	3	38560286	Missense_Mutation	SNP	C	C3N-00551_TP	78879	38560286	159735273	136	16815											
LTF	0	.	GRCh38	chr3	46439324	46439324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaacacctgtttcaggCgttccaccttatccatccga	9	10	8	14	2	1	0	1	0	0	0	4	2	4	1	5	2	2	3	5	2	2	3	rs145382222		C3N-00551_TP	C3N-00551_NB	C	C																c.1880G>T	p.Arg627Leu	p.R627L	ENST00000231751	15/17	79	74	5	119	119	0	strelka-mutect	LTF,missense_variant,p.Arg627Leu,ENST00000231751,NM_002343.4;LTF,missense_variant,p.Arg614Leu,ENST00000443496,NM_001321122.1;LTF,missense_variant,p.Arg583Leu,ENST00000426532,NM_001199149.1;LTF,missense_variant,p.Arg625Leu,ENST00000417439,;LTF,non_coding_transcript_exon_variant,,ENST00000493056,;LTF,non_coding_transcript_exon_variant,,ENST00000478874,;	A	ENST00000231751	Transcript	missense_variant	2176/2979	1880/2133	627/710	R/L	cGc/cTc	rs145382222	1		-1	LTF	HGNC	HGNC:6720	protein_coding	YES	CCDS33747.1	ENSP00000231751	P02788	V9HWI4	UPI000016ABE3	NM_002343.4	tolerated(0.7)		15/17		PROSITE_profiles:PS51408,hmmpanther:PTHR11485:SF33,hmmpanther:PTHR11485,PIRSF_domain:PIRSF500683,Pfam_domain:PF00405,PIRSF_domain:PIRSF002549,Gene3D:3.40.190.10,SMART_domains:SM00094,Superfamily_domains:SSF53850																	MODERATE	1	SNV	1			1										PASS		rs145382222	.												A	3	1	53	46439324	46439324	C	A	1	0	0	0	0	1	0	0	0	8985	768	27	1		1	LTF	3	46439324	Missense_Mutation	SNP	C	C3N-00551_TP	7879038	46439324	151856235	137	16816											
USP4	0	.	GRCh38	chr3	49298587	49298587	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccagacagcctggagagagCctcgcacaggtcggacacag	11	3	14	13	2	0	2	0	0	0	2	2	5	0	4	3	3	2	1	3	3	0	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1561G>T	p.Ala521Ser	p.A521S	ENST00000265560	12/22	251	210	41	275	275	0	strelka-varscan-mutect	USP4,missense_variant,p.Ala474Ser,ENST00000351842,NM_199443.2;USP4,missense_variant,p.Ala521Ser,ENST00000265560,NM_003363.3;USP4,missense_variant,p.Ala260Ser,ENST00000431357,;USP4,non_coding_transcript_exon_variant,,ENST00000486549,;USP4,downstream_gene_variant,,ENST00000488520,;USP4,upstream_gene_variant,,ENST00000475873,;USP4,non_coding_transcript_exon_variant,,ENST00000485450,;	A	ENST00000265560	Transcript	missense_variant	1608/3126	1561/2892	521/963	A/S	Gct/Tct		1		-1	USP4	HGNC	HGNC:12627	protein_coding	YES	CCDS2793.1	ENSP00000265560	Q13107	A0A024R2T0	UPI000013D63C	NM_003363.3	tolerated(0.19)		12/22		Pfam_domain:PF00443,PROSITE_profiles:PS50235																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	49298587	49298587	C	A	1	0	0	0	0	1	0	0	0	17613	739	26	2		2	USP4	3	49298587	Missense_Mutation	SNP	C	C3N-00551_TP	2859263	49298587	148996972	138	16817											
GRM2	0	.	GRCh38	chr3	51709127	51709127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaagggcggcccagcagaGgactgtggtcctgtcaatga	10	6	15	10	1	1	3	1	1	0	2	2	4	2	4	2	4	1	1	2	4	2	0			C3N-00551_TP	C3N-00551_NB	G	G																c.144G>T	p.Glu48Asp	p.E48D	ENST00000395052	2/6	177	155	22	171	170	1	strelka-varscan-mutect	GRM2,missense_variant,p.Glu48Asp,ENST00000395052,NM_000839.3;GRM2,missense_variant,p.Glu48Asp,ENST00000442933,;GRM2,missense_variant,p.Glu48Asp,ENST00000419928,;TEX264,downstream_gene_variant,,ENST00000415259,;TEX264,downstream_gene_variant,,ENST00000395057,NM_001243725.1;TEX264,downstream_gene_variant,,ENST00000611400,NM_001278195.1;TEX264,downstream_gene_variant,,ENST00000457573,NM_001129884.2;TEX264,downstream_gene_variant,,ENST00000341333,NM_015926.5;TEX264,downstream_gene_variant,,ENST00000416589,NM_001243726.1;TEX264,downstream_gene_variant,,ENST00000614067,NM_001243727.2;GRM2,intron_variant,,ENST00000475478,;TEX264,downstream_gene_variant,,ENST00000463857,;GRM2,upstream_gene_variant,,ENST00000496661,;GRM2,upstream_gene_variant,,ENST00000477330,;GRM2,missense_variant,p.Glu48Asp,ENST00000296479,;GRM2,non_coding_transcript_exon_variant,,ENST00000464585,;	T	ENST00000395052	Transcript	missense_variant	378/3151	144/2619	48/872	E/D	gaG/gaT	COSM5522804	1		1	GRM2	HGNC	HGNC:4594	protein_coding	YES	CCDS2834.1	ENSP00000378492	Q14416		UPI000013E346	NM_000839.3	tolerated(0.51)		2/6		hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF111,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	53	51709127	51709127	G	T	1	0	0	0	0	1	0	0	0	6679	991	35	2		2	GRM2	3	51709127	Missense_Mutation	SNP	G	C3N-00551_TP	2410540	51709127	146586432	139	16818											
ITIH3	0	.	GRCh38	chr3	52803862	52803862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcctcacagcaagaacGcccatggcgaggagaaggag	12	3	12	14	2	1	2	1	0	0	2	2	5	2	3	4	3	2	1	4	3	3	0	rs548417682		C3N-00551_TP	C3N-00551_NB	G	G																c.1717G>A	p.Ala573Thr	p.A573T	ENST00000449956	14/22	141	130	11	163	163	0	strelka-varscan-mutect	ITIH3,missense_variant,p.Ala573Thr,ENST00000621946,;ITIH3,missense_variant,p.Ala573Thr,ENST00000449956,NM_002217.3;ITIH3,intron_variant,,ENST00000416872,;ITIH3,downstream_gene_variant,,ENST00000465243,;ITIH3,downstream_gene_variant,,ENST00000463893,;ITIH3,non_coding_transcript_exon_variant,,ENST00000475931,;ITIH3,upstream_gene_variant,,ENST00000493136,;ITIH3,upstream_gene_variant,,ENST00000495622,;ITIH3,downstream_gene_variant,,ENST00000464804,;ITIH3,downstream_gene_variant,,ENST00000465314,;	A	ENST00000449956	Transcript	missense_variant	1723/3007	1717/2673	573/890	A/T	Gcc/Acc	rs548417682,COSM4119216,COSM4119217	1		1	ITIH3	HGNC	HGNC:6168	protein_coding	YES	CCDS46845.1	ENSP00000415769	Q06033		UPI00005CE290	NM_002217.3	tolerated(0.07)		14/22		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10338:SF115,hmmpanther:PTHR10338											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs548417682	.												A	3	1	53	52803862	52803862	G	A	1	0	0	0	0	1	0	0	0	7811	1087	38	1		1	ITIH3	3	52803862	Missense_Mutation	SNP	G	C3N-00551_TP	1094735	52803862	145491697	140	16819											
C3orf67	0	.	GRCh38	chr3	58884674	58884674	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcgtggtataatatctgTaggctcatctgttgaaaagg	10	14	11	6	1	3	1	1	1	2	0	4	1	3	1	0	3	0	5	0	3	6	6	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.211A>T	p.Thr71Ser	p.T71S	ENST00000295966	7/16	146	119	27	142	142	0	strelka-varscan-mutect	C3orf67,missense_variant,p.Thr71Ser,ENST00000295966,NM_198463.2;C3orf67,missense_variant,p.Thr71Ser,ENST00000482387,;C3orf67,5_prime_UTR_variant,,ENST00000472469,;C3orf67-AS1,intron_variant,,ENST00000482372,;C3orf67-AS1,intron_variant,,ENST00000493123,;C3orf67-AS1,intron_variant,,ENST00000492031,;C3orf67-AS1,intron_variant,,ENST00000463703,;C3orf67,3_prime_UTR_variant,,ENST00000468415,;C3orf67,downstream_gene_variant,,ENST00000479931,;	A	ENST00000295966	Transcript	missense_variant	715/2650	211/1692	71/563	T/S	Aca/Tca		1		-1	C3orf67	HGNC	HGNC:24763	protein_coding	YES	CCDS33776.1	ENSP00000295966	Q6ZVT6		UPI00001C098C	NM_198463.2	tolerated(0.1)		7/16		hmmpanther:PTHR12458																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	53	58884674	58884674	T	A	1	0	0	0	0	1	0	0	0	2071	1638	57	4		4	C3orf67	3	58884674	Missense_Mutation	SNP	T	C3N-00551_TP	6080812	58884674	139410885	141	16820											
PDZRN3	0	.	GRCh38	chr3	73383385	73383385	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatacagtagtcaccgataGgaaggaattgtatactctag	14	12	9	6	1	2	0	1	0	1	0	2	3	2	2	1	2	2	2	1	2	9	8	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.3181C>T	p.=	p.L1061L	ENST00000263666	10/10	56	41	15	76	76	0	strelka-varscan-mutect	PDZRN3,synonymous_variant,p.=,ENST00000263666,NM_015009.2;PDZRN3,synonymous_variant,p.=,ENST00000462146,NM_001303141.1;PDZRN3,synonymous_variant,p.=,ENST00000479530,NM_001303142.1;PDZRN3,synonymous_variant,p.=,ENST00000466780,NM_001303140.1;PDZRN3,synonymous_variant,p.=,ENST00000494559,;PDZRN3,downstream_gene_variant,,ENST00000492909,NM_001303139.1;PDZRN3,downstream_gene_variant,,ENST00000466348,;PDZRN3,downstream_gene_variant,,ENST00000478209,;PDZRN3,downstream_gene_variant,,ENST00000484487,;	A	ENST00000263666	Transcript	synonymous_variant	3296/4248	3181/3201	1061/1066	L	Cta/Tta		1		-1	PDZRN3	HGNC	HGNC:17704	protein_coding	YES	CCDS33789.1	ENSP00000263666	Q9UPQ7		UPI00001C1DE6	NM_015009.2			10/10		hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	73383385	73383385	G	A	1	0	0	0	0	0	0	0	1	11797	991	35	3		3	PDZRN3	3	73383385	Silent	SNP	G	C3N-00551_TP	14498711	73383385	124912174	142	16821											
PDZRN3	0	.	GRCh38	chr3	73388045	73388045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagccacagcctcttcacGgttctgcacctctatcccat	9	10	6	16	1	4	1	1	0	3	1	5	1	5	1	4	1	3	2	4	1	2	3	rs775690269		C3N-00551_TP	C3N-00551_NB	G	G																c.1441C>A	p.Arg481Ser	p.R481S	ENST00000263666	8/10	74	61	13	93	92	1	strelka-varscan-mutect	PDZRN3,missense_variant,p.Arg481Ser,ENST00000263666,NM_015009.2;PDZRN3,missense_variant,p.Arg138Ser,ENST00000462146,NM_001303141.1;PDZRN3,missense_variant,p.Arg198Ser,ENST00000479530,NM_001303142.1;PDZRN3,missense_variant,p.Arg138Ser,ENST00000466780,NM_001303140.1;PDZRN3,missense_variant,p.Arg78Ser,ENST00000494559,;PDZRN3,missense_variant,p.Arg179Ser,ENST00000492909,NM_001303139.1;PDZRN3,non_coding_transcript_exon_variant,,ENST00000466348,;PDZRN3,downstream_gene_variant,,ENST00000498048,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000478209,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000484487,;PDZRN3,downstream_gene_variant,,ENST00000477434,;	T	ENST00000263666	Transcript	missense_variant	1556/4248	1441/3201	481/1066	R/S	Cgt/Agt	rs775690269,COSM4442164,COSM4442165,COSM4442166	1		-1	PDZRN3	HGNC	HGNC:17704	protein_coding	YES	CCDS33789.1	ENSP00000263666	Q9UPQ7		UPI00001C1DE6	NM_015009.2	deleterious(0)		8/10		PROSITE_profiles:PS50106,hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs775690269	.												T	3	4	53	73388045	73388045	G	T	1	0	0	0	0	1	0	0	0	11797	1116	39	1		1	PDZRN3	3	73388045	Missense_Mutation	SNP	G	C3N-00551_TP	4660	73388045	124907514	143	16822											
PDZRN3	0	.	GRCh38	chr3	73404271	73404271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagctgagactctgatGgaggcgtgaacattttggtc	9	10	12	10	1	1	3	0	3	1	1	2	5	1	4	2	3	2	1	2	3	1	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1043C>T	p.Pro348Leu	p.P348L	ENST00000263666	4/10	257	212	45	336	336	0	strelka-varscan-mutect	PDZRN3,missense_variant,p.Pro348Leu,ENST00000263666,NM_015009.2;PDZRN3,missense_variant,p.Pro5Leu,ENST00000462146,NM_001303141.1;PDZRN3,missense_variant,p.Pro65Leu,ENST00000479530,NM_001303142.1;PDZRN3,missense_variant,p.Pro5Leu,ENST00000466780,NM_001303140.1;PDZRN3,missense_variant,p.Pro46Leu,ENST00000492909,NM_001303139.1;PDZRN3,upstream_gene_variant,,ENST00000494559,;PDZRN3,downstream_gene_variant,,ENST00000308537,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000498048,;PDZRN3,upstream_gene_variant,,ENST00000466348,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000477434,;PDZRN3,upstream_gene_variant,,ENST00000484487,;	A	ENST00000263666	Transcript	missense_variant	1158/4248	1043/3201	348/1066	P/L	cCa/cTa		1		-1	PDZRN3	HGNC	HGNC:17704	protein_coding	YES	CCDS33789.1	ENSP00000263666	Q9UPQ7		UPI00001C1DE6	NM_015009.2	tolerated(0.63)		4/10		hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	73404271	73404271	G	A	1	0	0	0	0	1	0	0	0	11797	1348	47	3		3	PDZRN3	3	73404271	Missense_Mutation	SNP	G	C3N-00551_TP	16226	73404271	124891288	144	16823											
OR5AC2	0	.	GRCh38	chr3	98087508	98087508	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttccagtgcaactacAgaatgcttcctcctggtgat	8	14	8	11	0	0	2	0	1	0	1	3	2	3	2	3	1	5	3	3	1	3	4	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.336A>T	p.=	p.T112T	ENST00000358642	1/1	218	187	31	239	239	0	strelka-varscan-mutect	OR5AC2,synonymous_variant,p.=,ENST00000358642,NM_054106.1;	T	ENST00000358642	Transcript	synonymous_variant	336/930	336/930	112/309	T	acA/acT		1		1	OR5AC2	HGNC	HGNC:15431	protein_coding	YES	CCDS33796.1	ENSP00000351466	Q9NZP5		UPI0000441EFD	NM_054106.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF96,hmmpanther:PTHR26452,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		rs1233740137	.												T	2	4	53	98087508	98087508	A	T	1	0	0	0	0	0	0	0	1	11213	175	7	4		4	OR5AC2	3	98087508	Silent	SNP	A	C3N-00551_TP	24683237	98087508	100208051	145	16824											
OR5AC2	0	.	GRCh38	chr3	98087940	98087940	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcattgtactacggaacTctgatcttcatgtatgtgcg	8	15	9	9	2	4	1	2	1	3	0	5	2	4	2	0	1	4	2	0	1	4	5	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.768T>A	p.=	p.T256T	ENST00000358642	1/1	132	110	22	126	126	0	strelka-varscan-mutect	OR5AC2,synonymous_variant,p.=,ENST00000358642,NM_054106.1;	A	ENST00000358642	Transcript	synonymous_variant	768/930	768/930	256/309	T	acT/acA		1		1	OR5AC2	HGNC	HGNC:15431	protein_coding	YES	CCDS33796.1	ENSP00000351466	Q9NZP5		UPI0000441EFD	NM_054106.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF96,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	53	98087940	98087940	T	A	1	0	0	0	0	0	0	0	1	11213	1538	54	4		4	OR5AC2	3	98087940	Silent	SNP	T	C3N-00551_TP	432	98087940	100207619	146	16825											
CPOX	0	.	GRCh38	chr3	98585615	98585615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaaaaagataccaccaatgCcccgccgttctccacgatgg	13	6	7	15	3	1	1	0	0	1	1	2	2	1	1	6	1	2	1	6	1	5	2			C3N-00551_TP	C3N-00551_NB	C	C																c.998G>T	p.Gly333Val	p.G333V	ENST00000264193	5/7	309	273	36	284	284	0	strelka-varscan-mutect	CPOX,missense_variant,p.Gly333Val,ENST00000264193,NM_000097.5;CPOX,non_coding_transcript_exon_variant,,ENST00000510489,;CPOX,downstream_gene_variant,,ENST00000515041,;CPOX,downstream_gene_variant,,ENST00000513674,;CPOX,upstream_gene_variant,,ENST00000512905,;	A	ENST00000264193	Transcript	missense_variant	1217/2825	998/1365	333/454	G/V	gGc/gTc	COSM3945791	1		-1	CPOX	HGNC	HGNC:2321	protein_coding	YES	CCDS2932.1	ENSP00000264193	P36551		UPI0000073C93	NM_000097.5	deleterious(0)		5/7		Gene3D:3.40.1500.10,Pfam_domain:PF01218,Prints_domain:PR00073,PROSITE_patterns:PS01021,hmmpanther:PTHR10755,hmmpanther:PTHR10755:SF0,Low_complexity_(Seg):seg,Superfamily_domains:SSF102886											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	53	98585615	98585615	C	A	1	0	0	0	0	1	0	0	0	3616	739	26	2		2	CPOX	3	98585615	Missense_Mutation	SNP	C	C3N-00551_TP	497675	98585615	99709944	147	16826											
COL8A1	0	.	GRCh38	chr3	99795626	99795626	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacccccagctgtgatgccCcctacaccaccaccccaggg	8	4	9	20	0	0	1	0	1	0	0	0	2	0	2	8	2	3	1	8	2	1	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1725C>T	p.=	p.P575P	ENST00000261037	5/5	108	95	13	77	77	0	strelka-varscan-mutect	COL8A1,synonymous_variant,p.=,ENST00000261037,;COL8A1,synonymous_variant,p.=,ENST00000273342,NM_020351.3,NM_001850.4;COL8A1,downstream_gene_variant,,ENST00000621757,;COL8A1,downstream_gene_variant,,ENST00000452013,;	T	ENST00000261037	Transcript	synonymous_variant	2105/5705	1725/2235	575/744	P	ccC/ccT		1		1	COL8A1	HGNC	HGNC:2215	protein_coding	YES	CCDS2934.1	ENSP00000261037	P27658		UPI0000126D21				5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF565																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	99795626	99795626	C	T	1	0	0	0	0	0	0	0	1	3494	610	22	3		3	COL8A1	3	99795626	Silent	SNP	C	C3N-00551_TP	1210011	99795626	98499933	148	16827											
PHLDB2	0	.	GRCh38	chr3	111974535	111974535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttatagttacgggggCagaaggttacactcacttct	10	12	12	7	1	2	1	1	0	1	1	2	2	2	2	0	4	2	4	0	4	5	5	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.3734C>A	p.Ala1245Glu	p.A1245E	ENST00000431670	18/18	104	88	16	129	128	1	strelka-varscan-mutect	PHLDB2,missense_variant,p.Ala1245Glu,ENST00000431670,NM_001134438.1;PHLDB2,missense_variant,p.Ala1202Glu,ENST00000412622,NM_145753.2;PHLDB2,missense_variant,p.Ala1229Glu,ENST00000393923,NM_001134437.1;PHLDB2,missense_variant,p.Ala1245Glu,ENST00000393925,NM_001134439.1;PHLDB2,missense_variant,p.Ala1202Glu,ENST00000481953,;PHLDB2,missense_variant,p.Ala736Glu,ENST00000495180,;PHLDB2,downstream_gene_variant,,ENST00000498699,;ABHD10,upstream_gene_variant,,ENST00000273359,NM_018394.3;ABHD10,upstream_gene_variant,,ENST00000494817,NM_001272069.1;PHLDB2,non_coding_transcript_exon_variant,,ENST00000486886,;ABHD10,upstream_gene_variant,,ENST00000491580,;ABHD10,upstream_gene_variant,,ENST00000493784,;ABHD10,upstream_gene_variant,,ENST00000497293,;	A	ENST00000431670	Transcript	missense_variant	4145/6127	3734/3762	1245/1253	A/E	gCa/gAa		1		1	PHLDB2	HGNC	HGNC:29573	protein_coding	YES	CCDS46886.1	ENSP00000405405	Q86SQ0		UPI0000457152	NM_001134438.1	deleterious(0)		18/18		PROSITE_profiles:PS50003,hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF21,SMART_domains:SM00233																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	111974535	111974535	C	A	1	0	0	0	0	1	0	0	0	11940	710	25	2		2	PHLDB2	3	111974535	Missense_Mutation	SNP	C	C3N-00551_TP	12178909	111974535	86321024	149	16828											
SIDT1	0	.	GRCh38	chr3	113567572	113567572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaactatcaagaagtgaGccgcaccttatgtccctcag	12	9	7	13	1	2	2	2	1	0	1	3	2	3	2	3	0	3	1	3	0	6	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.377G>T	p.Ser126Ile	p.S126I	ENST00000393830	3/26	96	82	14	121	121	0	strelka-varscan-mutect	SIDT1,missense_variant,p.Ser126Ile,ENST00000264852,NM_001322294.1,NM_001322299.1,NM_017699.2;SIDT1,missense_variant,p.Ser126Ile,ENST00000393830,NM_001308350.1;SIDT1,non_coding_transcript_exon_variant,,ENST00000491730,;SIDT1,non_coding_transcript_exon_variant,,ENST00000483946,;	T	ENST00000393830	Transcript	missense_variant	416/2572	377/2499	126/832	S/I	aGc/aTc		1		1	SIDT1	HGNC	HGNC:25967	protein_coding	YES	CCDS77790.1	ENSP00000377416	Q9NXL6		UPI0000DA58D9	NM_001308350.1	deleterious(0)		3/26		hmmpanther:PTHR12185,hmmpanther:PTHR12185:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	113567572	113567572	G	T	1	0	0	0	0	1	0	0	0	14566	971	34	2		2	SIDT1	3	113567572	Missense_Mutation	SNP	G	C3N-00551_TP	1593037	113567572	84727987	150	16829											
SEMA5B	0	.	GRCh38	chr3	122927904	122927904	+	Frame_Shift_Del	DEL	C	C	-																															gaccgtggctgcatagagctCcccctgggaggagatgacag																								novel		C3N-00551_TP	C3N-00551_NB	C	C																c.898delG	p.Glu300SerfsTer95	p.E300Sfs*95	ENST00000451055	8/23	76	58	18	61	61	0	sindel-varindel-pindel	SEMA5B,frameshift_variant,p.Glu246SerfsTer95,ENST00000616742,NM_001256346.1;SEMA5B,frameshift_variant,p.Glu246SerfsTer95,ENST00000357599,NM_001031702.3;SEMA5B,frameshift_variant,p.Glu300SerfsTer95,ENST00000451055,NM_001256347.1;SEMA5B,frameshift_variant,p.Glu188SerfsTer95,ENST00000195173,NM_001256348.1;SEMA5B,frameshift_variant,p.Glu246SerfsTer95,ENST00000393583,;SEMA5B,frameshift_variant,p.Glu246SerfsTer95,ENST00000475244,;	-	ENST00000451055	Transcript	frameshift_variant	909/4579	898/3618	300/1205	E/X	Gag/ag		1		-1	SEMA5B	HGNC	HGNC:10737	protein_coding	YES	CCDS58848.1	ENSP00000389588	Q9P283		UPI0002065011	NM_001256347.1			8/23		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF39,SMART_domains:SM00630,Superfamily_domains:SSF101912																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	53	122927904	122927904	C	-	1	0	1	0	1	0	0	0	0	14314	864	30	0		0	SEMA5B	3	122927904	Frame_Shift_Del	DEL	C	C3N-00551_TP	9360332	122927904	75367655	151	16830											
COL6A6	0	.	GRCh38	chr3	130568161	130568161	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctggtgagcaagtctcAgattggaccagatcgggtgc	11	8	13	9	1	1	3	1	1	1	2	3	4	1	4	2	3	3	1	2	3	2	1	rs774012639		C3N-00551_TP	C3N-00551_NB	A	A																c.1958A>T	p.Gln653Leu	p.Q653L	ENST00000358511	5/36	291	249	42	375	375	0	strelka-varscan-mutect	COL6A6,missense_variant,p.Gln653Leu,ENST00000358511,NM_001102608.1;	T	ENST00000358511	Transcript	missense_variant	1989/9581	1958/6792	653/2263	Q/L	cAg/cTg	rs774012639	1		1	COL6A6	HGNC	HGNC:27023	protein_coding	YES	CCDS46911.1	ENSP00000351310	A6NMZ7		UPI00015B6548	NM_001102608.1	deleterious(0.01)		5/36		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF61,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		rs774012639	.												T	3	4	53	130568161	130568161	A	T	1	0	0	0	0	1	0	0	0	3492	188	7	4		4	COL6A6	3	130568161	Missense_Mutation	SNP	A	C3N-00551_TP	7640257	130568161	67727398	152	16831											
COPB2	0	.	GRCh38	chr3	139369288	139369288	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgaatttcaattcttcgTatgagttctgtattgtccca	8	17	8	8	1	3	2	1	2	2	0	5	2	4	2	1	1	0	4	1	1	4	7	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1374A>T	p.=	p.I458I	ENST00000333188	12/22	119	106	13	133	133	0	strelka-varscan-mutect	COPB2,synonymous_variant,p.=,ENST00000333188,NM_004766.2;COPB2,synonymous_variant,p.=,ENST00000507777,;COPB2,synonymous_variant,p.=,ENST00000512309,;COPB2,downstream_gene_variant,,ENST00000510181,;	A	ENST00000333188	Transcript	synonymous_variant	1556/3360	1374/2721	458/906	I	atA/atT		1		-1	COPB2	HGNC	HGNC:2232	protein_coding	YES	CCDS3108.1	ENSP00000329419	P35606		UPI0000161FB4	NM_004766.2			12/22		hmmpanther:PTHR19876,Pfam_domain:PF04053,PIRSF_domain:PIRSF005567,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		rs1247149216	.												A	2	1	53	139369288	139369288	T	A	1	0	0	0	0	0	0	0	1	3521	1628	57	4		4	COPB2	3	139369288	Silent	SNP	T	C3N-00551_TP	8801127	139369288	58926271	153	16832											
PLOD2	0	.	GRCh38	chr3	146110423	146110423	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttttttagaacttcttctgGaccaccagcaaatatgacat	12	15	5	9	0	2	2	0	1	2	1	2	3	2	3	2	1	2	1	2	1	4	7	rs766067972		C3N-00551_TP	C3N-00551_NB	G	G																c.364C>A	p.Pro122Thr	p.P122T	ENST00000282903	4/20	117	104	13	185	184	1	strelka-varscan-mutect	PLOD2,missense_variant,p.Pro122Thr,ENST00000282903,NM_182943.2;PLOD2,missense_variant,p.Pro122Thr,ENST00000360060,NM_000935.2;PLOD2,missense_variant,p.Pro67Thr,ENST00000494950,;PLOD2,missense_variant,p.Pro94Thr,ENST00000469350,;PLOD2,3_prime_UTR_variant,,ENST00000480704,;	T	ENST00000282903	Transcript	missense_variant	542/3732	364/2277	122/758	P/T	Cca/Aca	rs766067972,COSM5033154	1		-1	PLOD2	HGNC	HGNC:9082	protein_coding	YES	CCDS3132.1	ENSP00000282903	O00469		UPI0000049C44	NM_182943.2	tolerated(0.08)		4/20		hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF6											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs766067972	.												T	3	4	53	146110423	146110423	G	T	1	0	0	0	0	1	0	0	0	12198	1174	41	2		2	PLOD2	3	146110423	Missense_Mutation	SNP	G	C3N-00551_TP	6741135	146110423	52185136	154	16833											
PLSCR2	0	.	GRCh38	chr3	146459858	146459858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaaattacctgacttaagTattccaatcctggcggacag	12	12	8	9	1	0	2	0	2	0	0	2	3	2	3	3	2	1	1	3	2	5	5	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.266A>G	p.Tyr89Cys	p.Y89C	ENST00000497985	4/10	124	108	16	203	203	0	strelka-varscan-mutect	PLSCR2,missense_variant,p.Tyr89Cys,ENST00000497985,NM_001199978.1;PLSCR2,missense_variant,p.Tyr16Cys,ENST00000336685,NM_020359.2;PLSCR2,missense_variant,p.Tyr85Cys,ENST00000613069,NM_001199979.1;PLSCR2,missense_variant,p.Tyr16Cys,ENST00000610787,;PLSCR2,missense_variant,p.Tyr16Cys,ENST00000489015,;PLSCR2,missense_variant,p.Tyr16Cys,ENST00000463633,;	C	ENST00000497985	Transcript	missense_variant	706/1441	266/894	89/297	Y/C	tAc/tGc		1		-1	PLSCR2	HGNC	HGNC:16494	protein_coding	YES	CCDS56284.1	ENSP00000420132	Q9NRY7		UPI0001B79690	NM_001199978.1	deleterious(0.04)		4/10		hmmpanther:PTHR23248,hmmpanther:PTHR23248:SF29,Pfam_domain:PF03803																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	53	146459858	146459858	T	C	1	0	0	0	0	1	0	0	0	12218	1638	57	5		5	PLSCR2	3	146459858	Missense_Mutation	SNP	T	C3N-00551_TP	349435	146459858	51835701	155	16834											
CPB1	0	.	GRCh38	chr3	148827893	148827893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtggtgagcactttgaaGggtaagtaagccatctttaa	12	12	12	5	0	1	2	0	2	1	0	1	2	1	2	1	3	2	3	1	3	4	5			C3N-00551_TP	C3N-00551_NB	G	G																c.70G>T	p.Gly24Cys	p.G24C	ENST00000491148	2/12	130	116	14	214	214	0	strelka-varscan-mutect	CPB1,missense_variant,p.Gly24Cys,ENST00000491148,;CPB1,missense_variant,p.Gly24Cys,ENST00000282957,NM_001871.2;CPB1,missense_variant,p.Gly24Cys,ENST00000468341,;CPB1,missense_variant,p.Gly24Cys,ENST00000494888,;CPB1,missense_variant,p.Gly24Cys,ENST00000462345,;CPB1,upstream_gene_variant,,ENST00000465718,;HMGB1P30,upstream_gene_variant,,ENST00000492455,;	T	ENST00000491148	Transcript	missense_variant,splice_region_variant	404/1773	70/1254	24/417	G/C	Ggc/Tgc	COSM1039655	1		1	CPB1	HGNC	HGNC:2299	protein_coding	YES	CCDS33874.1	ENSP00000417222	P15086		UPI00001271CD		deleterious(0.03)		2/12		hmmpanther:PTHR11705:SF20,hmmpanther:PTHR11705,Gene3D:3.30.70.340,Superfamily_domains:SSF54897											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	53	148827893	148827893	G	T	1	0	0	0	0	1	0	0	0	3590	1014	35	2		2	CPB1	3	148827893	Missense_Mutation	SNP	G	C3N-00551_TP	2368035	148827893	49467666	156	16835											
MED12L	0	.	GRCh38	chr3	151159939	151159939	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccccaacctccttgctgcCcactcaccccacatgatgat	9	8	5	19	0	1	2	1	2	0	0	2	2	2	2	7	0	4	1	7	0	1	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.945C>G	p.=	p.A315A	ENST00000474524	7/43	237	192	45	247	247	0	strelka-varscan-mutect	MED12L,synonymous_variant,p.=,ENST00000474524,NM_053002.5;MED12L,synonymous_variant,p.=,ENST00000309237,;MED12L,synonymous_variant,p.=,ENST00000422248,;MED12L,intron_variant,,ENST00000273432,;	G	ENST00000474524	Transcript	synonymous_variant	983/10744	945/6438	315/2145	A	gcC/gcG		1		1	MED12L	HGNC	HGNC:16050	protein_coding	YES	CCDS33876.1	ENSP00000417235	Q86YW9		UPI000020A46B	NM_053002.5			7/43		hmmpanther:PTHR13992:SF22,hmmpanther:PTHR13992,Pfam_domain:PF12145																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	53	151159939	151159939	C	G	1	0	0	0	0	0	0	0	1	9368	610	22	4		4	MED12L	3	151159939	Silent	SNP	C	C3N-00551_TP	2332046	151159939	47135620	157	16836											
C3orf70	0	.	GRCh38	chr3	185083297	185083297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcagggctcattctgtGggaatgtggtgccggctgct	4	12	14	11	1	3	0	2	0	1	0	4	1	4	1	2	4	2	3	2	4	1	1	rs767517434		C3N-00551_TP	C3N-00551_NB	G	G																c.463C>A	p.His155Asn	p.H155N	ENST00000335012	2/2	216	166	50	262	261	1	strelka-varscan-mutect	C3orf70,missense_variant,p.His155Asn,ENST00000335012,NM_001025266.1;	T	ENST00000335012	Transcript	missense_variant	654/5901	463/753	155/250	H/N	Cac/Aac	rs767517434	1		-1	C3orf70	HGNC	HGNC:33731	protein_coding	YES	CCDS33900.1	ENSP00000334974	A6NLC5		UPI000016128B	NM_001025266.1	tolerated_low_confidence(0.23)		2/2		hmmpanther:PTHR31785,hmmpanther:PTHR31785:SF2,Pfam_domain:PF15823																	MODERATE	1	SNV	1			1										PASS		rs767517434	.												T	3	4	53	185083297	185083297	G	T	1	0	0	0	0	1	0	0	0	2072	1348	47	2		2	C3orf70	3	185083297	Missense_Mutation	SNP	G	C3N-00551_TP	33923358	185083297	13212262	158	16837											
HRG	0	.	GRCh38	chr3	186677244	186677244	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatggacccccacttccAcaaggccctcctccactatt	9	9	4	19	0	1	0	1	0	0	0	4	1	4	1	6	2	0	0	6	2	2	3	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.939A>T	p.=	p.P313P	ENST00000232003	7/7	459	395	64	423	423	0	strelka-varscan-mutect	HRG,synonymous_variant,p.=,ENST00000232003,NM_000412.3;RP11-573D15.8,intron_variant,,ENST00000630864,;RP11-573D15.8,intron_variant,,ENST00000625303,;RP11-573D15.8,intron_variant,,ENST00000629106,;RP11-573D15.8,intron_variant,,ENST00000630315,;RP11-573D15.8,intron_variant,,ENST00000627830,;RP11-573D15.8,intron_variant,,ENST00000628253,;RP11-573D15.8,intron_variant,,ENST00000630178,;RP11-573D15.8,intron_variant,,ENST00000628505,;RP11-573D15.8,intron_variant,,ENST00000626649,;RP11-573D15.8,intron_variant,,ENST00000625741,;RP11-573D15.8,intron_variant,,ENST00000626845,;RP11-573D15.8,intron_variant,,ENST00000629451,;RP11-573D15.8,intron_variant,,ENST00000627469,;RP11-573D15.8,intron_variant,,ENST00000628190,;RP11-573D15.8,intron_variant,,ENST00000625386,;RP11-573D15.8,intron_variant,,ENST00000630331,;RP11-573D15.8,intron_variant,,ENST00000625877,;RP11-573D15.8,intron_variant,,ENST00000628728,;RP11-573D15.8,intron_variant,,ENST00000626633,;RP11-573D15.8,intron_variant,,ENST00000625839,;RP11-573D15.8,intron_variant,,ENST00000630726,;RP11-573D15.8,upstream_gene_variant,,ENST00000626006,;HRG,non_coding_transcript_exon_variant,,ENST00000495413,;	T	ENST00000232003	Transcript	synonymous_variant	1019/2015	939/1578	313/525	P	ccA/ccT		1		1	HRG	HGNC	HGNC:5181	protein_coding	YES	CCDS3280.1	ENSP00000232003	P04196		UPI000012CBC3	NM_000412.3			7/7		Low_complexity_(Seg):seg,hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF3																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	186677244	186677244	A	T	1	0	0	0	0	0	0	0	1	7249	146	6	4		4	HRG	3	186677244	Silent	SNP	A	C3N-00551_TP	1593947	186677244	11618315	159	16838											
FGF12	0	.	GRCh38	chr3	192408114	192408114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctctcgcacagggagcgcCcgtctttgctggggctggag	4	8	16	13	3	2	0	0	0	2	0	3	2	2	2	2	4	2	3	2	4	0	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.110G>T	p.Gly37Val	p.G37V	ENST00000454309	1/5	205	174	31	237	236	1	strelka-varscan-mutect	FGF12,missense_variant,p.Gly37Val,ENST00000454309,NM_021032.4;FGF12,intron_variant,,ENST00000445105,NM_004113.5;FGF12,intron_variant,,ENST00000450716,;FGF12,intron_variant,,ENST00000418610,;FGF12,intron_variant,,ENST00000430714,;FGF12,intron_variant,,ENST00000448795,;	A	ENST00000454309	Transcript	missense_variant	936/3058	110/732	37/243	G/V	gGg/gTg		1		-1	FGF12	HGNC	HGNC:3668	protein_coding	YES	CCDS3301.1	ENSP00000413496	P61328		UPI0000003FDD	NM_021032.4	tolerated(0.09)		1/5		hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF17																	MODERATE	1	SNV	1			1										PASS		rs1403732685	.												A	3	1	53	192408114	192408114	C	A	1	0	0	0	0	1	0	0	0	5705	623	22	2		2	FGF12	3	192408114	Missense_Mutation	SNP	C	C3N-00551_TP	5730870	192408114	5887445	160	16839											
CPN2	0	.	GRCh38	chr3	194341152	194341152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccactcctgactagcattGtactgcagtcccagggagcc	8	9	9	15	0	0	1	0	1	0	0	3	2	3	2	4	1	4	3	4	1	2	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1551C>T	p.=	p.Y517Y	ENST00000323830	2/2	148	130	18	122	122	0	strelka-mutect	CPN2,synonymous_variant,p.=,ENST00000323830,NM_001291988.1,NM_001080513.3;CPN2,synonymous_variant,p.=,ENST00000429275,;	A	ENST00000323830	Transcript	synonymous_variant	1641/3028	1551/1638	517/545	Y	taC/taT		1		-1	CPN2	HGNC	HGNC:2313	protein_coding	YES	CCDS33920.1	ENSP00000319464	P22792		UPI0001AE76B7	NM_001291988.1,NM_001080513.3			2/2		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF278																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	194341152	194341152	G	A	1	0	0	0	0	0	0	0	1	3605	1372	48	3		3	CPN2	3	194341152	Silent	SNP	G	C3N-00551_TP	1933038	194341152	3954407	161	16840											
CLNK	0	.	GRCh38	chr4	10513477	10513477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttacctttctatcagacCttttggggaaaggtggtctc	7	15	10	9	0	3	1	1	0	2	1	4	2	3	2	2	4	2	1	2	4	3	5	rs761640065		C3N-00551_TP	C3N-00551_NB	C	C																c.893G>T	p.Arg298Met	p.R298M	ENST00000226951	16/19	130	122	8	276	276	0	strelka-varscan-mutect	CLNK,missense_variant,p.Arg298Met,ENST00000226951,NM_052964.2;CLNK,missense_variant,p.Arg36Met,ENST00000515667,;CLNK,missense_variant,p.Arg298Met,ENST00000442825,;	A	ENST00000226951	Transcript	missense_variant	1133/5599	893/1287	298/428	R/M	aGg/aTg	rs761640065	1		-1	CLNK	HGNC	HGNC:17438	protein_coding	YES	CCDS47024.1	ENSP00000226951	Q7Z7G1		UPI000004A23A	NM_052964.2	deleterious(0)		16/19		hmmpanther:PTHR14098:SF2,hmmpanther:PTHR14098,Superfamily_domains:SSF55550																	MODERATE	1	SNV	1			1										PASS		rs761640065	.												A	3	1	53	10513477	10513477	C	A	1	0	0	0	0	1	0	0	0	3317	681	24	2		2	CLNK	4	10513477	Missense_Mutation	SNP	C	C3N-00551_TP		10513477	179701078	162	16841											
CLRN2	0	.	GRCh38	chr4	17522928	17522928	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgattctgctgctcctcttCctggccttggccctggctct	2	15	9	15	0	3	1	0	1	3	0	5	1	5	1	4	3	2	3	4	3	0	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.318C>G	p.Phe106Leu	p.F106L	ENST00000511148	2/3	153	145	8	153	153	0	strelka-mutect	CLRN2,missense_variant,p.Phe106Leu,ENST00000511148,NM_001079827.2;	G	ENST00000511148	Transcript	missense_variant	420/823	318/699	106/232	F/L	ttC/ttG		1		1	CLRN2	HGNC	HGNC:33939	protein_coding	YES	CCDS47032.1	ENSP00000424711	A0PK11		UPI0000D6154A	NM_001079827.2	tolerated(0.74)		2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR31548,hmmpanther:PTHR31548:SF5,PD525711,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	17522928	17522928	C	G	1	0	0	0	0	1	0	0	0	3330	854	30	4		4	CLRN2	4	17522928	Missense_Mutation	SNP	C	C3N-00551_TP	7009451	17522928	172691627	163	16842											
PCDH7	0	.	GRCh38	chr4	30724531	30724531	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgggagcaggagacaacAtttcaattggatcagatcac	13	10	11	7	0	3	2	3	0	0	2	3	5	3	4	0	3	2	1	0	3	2	3	rs780554695		C3N-00551_TP	C3N-00551_NB	A	A																c.3109A>T	p.Ile1037Phe	p.I1037F	ENST00000543491	1/1	149	138	11	228	228	0	strelka-varscan-mutect	PCDH7,missense_variant,p.Ile727Phe,ENST00000511884,NM_032457.3,NM_001173523.1;PCDH7,missense_variant,p.Ile1037Phe,ENST00000361762,NM_002589.2;PCDH7,missense_variant,p.Ile1037Phe,ENST00000543491,NM_032456.2;PCDH7,missense_variant,p.Ile352Phe,ENST00000621961,;PCDH7,missense_variant,p.Ile3Phe,ENST00000509759,;PCDH7,non_coding_transcript_exon_variant,,ENST00000507864,;	T	ENST00000543491	Transcript	missense_variant	3679/4457	3109/3219	1037/1072	I/F	Att/Ttt	rs780554695	1		1	PCDH7	HGNC	HGNC:8659	protein_coding	YES	CCDS75116.1	ENSP00000441802	O60245		UPI00001615DB	NM_032456.2	tolerated(0.27)		1/1		hmmpanther:PTHR24027:SF321,hmmpanther:PTHR24027,Pfam_domain:PF08374																	MODERATE	1	SNV				1										PASS		rs780554695	.												T	3	4	53	30724531	30724531	A	T	1	0	0	0	0	1	0	0	0	11603	217	8	4		4	PCDH7	4	30724531	Missense_Mutation	SNP	A	C3N-00551_TP	13201603	30724531	159490024	164	16843											
TBC1D1	0	.	GRCh38	chr4	38044373	38044373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttttagacatcgcagatGgcagcagagaatattggaag	13	11	11	6	1	0	3	0	0	0	3	1	5	0	4	0	2	1	3	0	2	4	5	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1425G>A	p.Met475Ile	p.M475I	ENST00000261439	9/20	82	76	6	111	111	0	strelka-varscan-mutect	TBC1D1,missense_variant,p.Met475Ile,ENST00000261439,NM_015173.3;TBC1D1,missense_variant,p.Met475Ile,ENST00000508802,NM_001253912.1;TBC1D1,missense_variant,p.Met123Ile,ENST00000510573,;TBC1D1,missense_variant,p.Met346Ile,ENST00000446803,;TBC1D1,intron_variant,,ENST00000615497,;TBC1D1,intron_variant,,ENST00000513936,;TBC1D1,upstream_gene_variant,,ENST00000443855,;TBC1D1,upstream_gene_variant,,ENST00000421339,;TBC1D1,non_coding_transcript_exon_variant,,ENST00000509761,;	A	ENST00000261439	Transcript	missense_variant	1780/5700	1425/3507	475/1168	M/I	atG/atA		1		1	TBC1D1	HGNC	HGNC:11578	protein_coding	YES	CCDS33972.1	ENSP00000261439	Q86TI0	B9A6J6	UPI0000367235	NM_015173.3	tolerated(0.2)		9/20																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	38044373	38044373	G	A	1	0	0	0	0	1	0	0	0	15997	1348	47	3		3	TBC1D1	4	38044373	Missense_Mutation	SNP	G	C3N-00551_TP	7319842	38044373	152170182	165	16844											
PDS5A	0	.	GRCh38	chr4	39928003	39928003	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggagcttctggggcataGatacgaaagatatcagccaa	14	9	11	7	1	2	2	1	0	1	2	2	4	2	3	1	3	3	2	1	3	6	5			C3N-00551_TP	C3N-00551_NB	G	G																c.300C>A	p.=	p.I100I	ENST00000303538	3/33	281	236	45	315	315	0	strelka-varscan-mutect	PDS5A,synonymous_variant,p.=,ENST00000303538,NM_001100399.1;PDS5A,synonymous_variant,p.=,ENST00000503396,NM_001100400.1;PDS5A,synonymous_variant,p.=,ENST00000513798,;TCEB1P33,upstream_gene_variant,,ENST00000603716,;	T	ENST00000303538	Transcript	synonymous_variant	840/7176	300/4014	100/1337	I	atC/atA	COSM1055289,COSM1594546	1		-1	PDS5A	HGNC	HGNC:29088	protein_coding	YES	CCDS47045.1	ENSP00000303427	Q29RF7	G1UI16	UPI00006C6A7E	NM_001100399.1			3/33		hmmpanther:PTHR12663:SF2,hmmpanther:PTHR12663,Superfamily_domains:SSF48371											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	53	39928003	39928003	G	T	1	0	0	0	0	0	0	0	1	11779	932	33	2		2	PDS5A	4	39928003	Silent	SNP	G	C3N-00551_TP	1883630	39928003	150286552	166	16845											
KCTD8	0	.	GRCh38	chr4	44448183	44448183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgcgagttgcttgtccCgcagataatccagcacgtac	9	8	11	13	4	0	1	0	0	0	1	2	2	2	1	2	0	4	6	2	0	2	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.341G>T	p.Arg114Leu	p.R114L	ENST00000360029	1/2	189	146	43	176	176	0	strelka-varscan-mutect	KCTD8,missense_variant,p.Arg114Leu,ENST00000360029,NM_198353.2;KCTD8,upstream_gene_variant,,ENST00000515268,;	A	ENST00000360029	Transcript	missense_variant	625/2587	341/1422	114/473	R/L	cGg/cTg		1		-1	KCTD8	HGNC	HGNC:22394	protein_coding	YES	CCDS3467.1	ENSP00000353129	Q6ZWB6		UPI00001C08D6	NM_198353.2	deleterious(0)		1/2		Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF68,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		rs1363571367	.												A	3	1	53	44448183	44448183	C	A	1	0	0	0	0	1	0	0	0	8032	652	23	1		1	KCTD8	4	44448183	Missense_Mutation	SNP	C	C3N-00551_TP	4520180	44448183	145766372	167	16846											
SCFD2	0	.	GRCh38	chr4	53352657	53352657	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctcctcagtatggagTgcagtgagcgctatcatgtt	7	15	10	9	1	2	1	2	1	0	0	4	2	4	2	2	1	2	4	2	1	2	5	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.948A>C	p.=	p.A316A	ENST00000401642	2/9	225	200	25	237	237	0	strelka-varscan-mutect	SCFD2,synonymous_variant,p.=,ENST00000401642,NM_152540.3;SCFD2,synonymous_variant,p.=,ENST00000388940,;SCFD2,synonymous_variant,p.=,ENST00000611795,;SCFD2,synonymous_variant,p.=,ENST00000503450,;	G	ENST00000401642	Transcript	synonymous_variant	1082/3176	948/2055	316/684	A	gcA/gcC		1		-1	SCFD2	HGNC	HGNC:30676	protein_coding	YES	CCDS33984.1	ENSP00000384182	Q8WU76		UPI000006FB05	NM_152540.3			2/9		Gene3D:3.40.50.1910,Pfam_domain:PF00995,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF29,Superfamily_domains:SSF56815																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	53	53352657	53352657	T	G	1	0	0	0	0	0	0	0	1	14156	1683	59	5		5	SCFD2	4	53352657	Silent	SNP	T	C3N-00551_TP	8904474	53352657	136861898	168	16847											
SCFD2	0	.	GRCh38	chr4	53365155	53365155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgatgccctgcctgcagCagtcttcttcctgttctttg	4	15	8	14	0	3	1	0	1	3	0	4	1	4	1	3	0	4	3	3	0	0	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.787G>C	p.Ala263Pro	p.A263P	ENST00000401642	1/9	128	112	16	168	168	0	strelka-varscan-mutect	SCFD2,missense_variant,p.Ala263Pro,ENST00000401642,NM_152540.3;SCFD2,missense_variant,p.Ala263Pro,ENST00000388940,;SCFD2,missense_variant,p.Ala263Pro,ENST00000611795,;SCFD2,5_prime_UTR_variant,,ENST00000503450,;	G	ENST00000401642	Transcript	missense_variant	921/3176	787/2055	263/684	A/P	Gct/Cct		1		-1	SCFD2	HGNC	HGNC:30676	protein_coding	YES	CCDS33984.1	ENSP00000384182	Q8WU76		UPI000006FB05	NM_152540.3	deleterious(0.01)		1/9		Gene3D:3.40.50.1910,Pfam_domain:PF00995,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF29,Superfamily_domains:SSF56815																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	53365155	53365155	C	G	1	0	0	0	0	1	0	0	0	14156	710	25	4		4	SCFD2	4	53365155	Missense_Mutation	SNP	C	C3N-00551_TP	12498	53365155	136849400	169	16848											
KDR	0	.	GRCh38	chr4	55105838	55105838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagagtacttactggtcaCgtggaaggagatcaccctct	12	9	11	9	1	3	3	2	0	1	3	3	5	3	4	1	3	2	1	1	3	4	2	rs761405036		C3N-00551_TP	C3N-00551_NB	C	C																c.1639G>A	p.Val547Met	p.V547M	ENST00000263923	12/30	406	342	64	527	527	0	strelka-mutect	KDR,missense_variant,p.Val547Met,ENST00000263923,NM_002253.2;KDR,non_coding_transcript_exon_variant,,ENST00000512566,;	T	ENST00000263923	Transcript	missense_variant	1935/5831	1639/4071	547/1356	V/M	Gtg/Atg	rs761405036	1		-1	KDR	HGNC	HGNC:6307	protein_coding	YES	CCDS3497.1	ENSP00000263923	P35968	A0A024RD88	UPI000003AE04	NM_002253.2	deleterious(0)		12/30		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,SMART_domains:SM00409																	MODERATE	1	SNV	1			1										PASS		rs761405036	.												T	3	4	53	55105838	55105838	C	T	1	0	0	0	0	1	0	0	0	8059	536	19	1		1	KDR	4	55105838	Missense_Mutation	SNP	C	C3N-00551_TP	1740683	55105838	135108717	170	16849											
YTHDC1	0	.	GRCh38	chr4	68316419	68316419	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatagtaaggatggtgTggaggttgttccattcctgg	7	14	15	5	0	0	1	0	1	0	0	2	3	2	3	2	5	1	4	2	5	2	5	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1854A>T	p.=	p.P618P	ENST00000344157	16/17	115	106	9	126	126	0	strelka-varscan-mutect	YTHDC1,synonymous_variant,p.=,ENST00000344157,NM_001031732.2;YTHDC1,synonymous_variant,p.=,ENST00000355665,NM_133370.2;YTHDC1,synonymous_variant,p.=,ENST00000579690,;YTHDC1,synonymous_variant,p.=,ENST00000507529,;	A	ENST00000344157	Transcript	synonymous_variant	2190/6232	1854/2184	618/727	P	ccA/ccT		1		-1	YTHDC1	HGNC	HGNC:30626	protein_coding	YES	CCDS33992.1	ENSP00000339245	Q96MU7		UPI000020B86D	NM_001031732.2			16/17		hmmpanther:PTHR12357,hmmpanther:PTHR12357:SF33,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	68316419	68316419	T	A	1	0	0	0	0	0	0	0	1	18057	1683	59	4		4	YTHDC1	4	68316419	Silent	SNP	T	C3N-00551_TP	13210581	68316419	121898136	171	16850											
YTHDC1	0	.	GRCh38	chr4	68337063	68337063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccagatctgacagaccCatctgtgaaggaaacagatt	15	8	9	9	0	2	6	0	3	2	3	2	7	2	7	2	1	2	0	2	1	3	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.847G>T	p.Gly283Trp	p.G283W	ENST00000344157	4/17	77	72	5	66	66	0	strelka-varscan-mutect	YTHDC1,missense_variant,p.Gly283Trp,ENST00000344157,NM_001031732.2;YTHDC1,missense_variant,p.Gly283Trp,ENST00000355665,NM_133370.2;YTHDC1,missense_variant,p.Gly283Trp,ENST00000579690,;YTHDC1,downstream_gene_variant,,ENST00000510746,;YTHDC1,downstream_gene_variant,,ENST00000505251,;	A	ENST00000344157	Transcript	missense_variant	1183/6232	847/2184	283/727	G/W	Ggg/Tgg		1		-1	YTHDC1	HGNC	HGNC:30626	protein_coding	YES	CCDS33992.1	ENSP00000339245	Q96MU7		UPI000020B86D	NM_001031732.2	deleterious(0)		4/17		hmmpanther:PTHR12357,hmmpanther:PTHR12357:SF33																	MODERATE	1	SNV	1			1										PASS		rs1218769585	.												A	3	1	53	68337063	68337063	C	A	1	0	0	0	0	1	0	0	0	18057	594	21	2		2	YTHDC1	4	68337063	Missense_Mutation	SNP	C	C3N-00551_TP	20644	68337063	121877492	172	16851											
UGT2B11	0	.	GRCh38	chr4	69200655	69200655	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatccagaagactgctcGatccaggggctttactggtt	9	12	10	10	1	1	2	1	0	0	2	4	3	3	2	2	3	2	3	2	3	3	4	rs764600893		C3N-00551_TP	C3N-00551_NB	G	G																c.1375C>A	p.=	p.R459R	ENST00000446444	6/6	221	199	22	275	275	0	varscan-mutect	UGT2B11,synonymous_variant,p.=,ENST00000446444,NM_001073.1;RP11-704M14.1,intron_variant,,ENST00000505646,;RP11-704M14.1,intron_variant,,ENST00000504301,;UGT2B11,downstream_gene_variant,,ENST00000513315,;	T	ENST00000446444	Transcript	synonymous_variant	1384/2088	1375/1590	459/529	R	Cga/Aga	rs764600893,COSM396563,COSM4465294	1		-1	UGT2B11	HGNC	HGNC:12545	protein_coding	YES	CCDS3527.1	ENSP00000387683	O75310		UPI0000137A97	NM_001073.1			6/6		Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF365,Superfamily_domains:SSF53756											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs764600893	.												T	2	4	53	69200655	69200655	G	T	1	0	0	0	0	0	0	0	1	17481	1066	37	1		1	UGT2B11	4	69200655	Silent	SNP	G	C3N-00551_TP	863592	69200655	121013900	173	16852											
UGT2B28	0	.	GRCh38	chr4	69286833	69286833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgataagtaacatgacaGcagaaagggccaacgtaatt	17	7	10	7	1	0	3	0	2	0	1	0	3	0	3	1	1	3	3	1	1	5	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.952G>T	p.Ala318Ser	p.A318S	ENST00000335568	3/6	115	76	39	160	160	0	strelka-varscan-mutect	UGT2B28,missense_variant,p.Ala318Ser,ENST00000335568,NM_053039.1;UGT2B28,missense_variant,p.Ala318Ser,ENST00000511240,NM_001207004.1;	T	ENST00000335568	Transcript	missense_variant	954/1833	952/1590	318/529	A/S	Gca/Tca		1		1	UGT2B28	HGNC	HGNC:13479	protein_coding	YES	CCDS3528.1	ENSP00000334276	Q9BY64		UPI0000137A9F	NM_053039.1	deleterious(0.03)		3/6		Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF365,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	69286833	69286833	G	T	1	0	0	0	0	1	0	0	0	17484	971	34	2		2	UGT2B28	4	69286833	Missense_Mutation	SNP	G	C3N-00551_TP	86178	69286833	120927722	174	16853											
SHROOM3	0	.	GRCh38	chr4	76436216	76436216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagaaccattaatcatctCtaaggtatgtttctttttcc	10	16	6	9	1	3	1	1	0	2	1	5	2	4	1	2	2	1	2	2	2	4	6	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.164C>A	p.Ser55Tyr	p.S55Y	ENST00000296043	1/11	182	154	28	187	187	0	strelka-varscan-mutect	SHROOM3,missense_variant,p.Ser55Tyr,ENST00000296043,NM_020859.3;SHROOM3,non_coding_transcript_exon_variant,,ENST00000466541,;SHROOM3,non_coding_transcript_exon_variant,,ENST00000497440,;	A	ENST00000296043	Transcript	missense_variant	1117/11020	164/5991	55/1996	S/Y	tCt/tAt		1		1	SHROOM3	HGNC	HGNC:30422	protein_coding	YES	CCDS3579.2	ENSP00000296043	Q8TF72		UPI0000E5AC1C	NM_020859.3	deleterious(0)		1/11		PROSITE_profiles:PS50106,hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	76436216	76436216	C	A	1	0	0	0	0	1	0	0	0	14558	927	32	2		2	SHROOM3	4	76436216	Missense_Mutation	SNP	C	C3N-00551_TP	7149383	76436216	113778339	175	16854											
BMP2K	0	.	GRCh38	chr4	78872616	78872616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcatttcttttttcagatGccgcagtatcagcaggcttt	8	17	7	9	1	4	1	3	0	1	1	4	1	4	1	1	1	2	4	1	1	2	7	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1611G>T	p.Met537Ile	p.M537I	ENST00000335016	13/16	71	59	12	80	80	0	strelka-varscan-mutect	BMP2K,missense_variant,p.Met230Ile,ENST00000502613,;BMP2K,missense_variant,p.Met537Ile,ENST00000335016,NM_198892.1;BMP2K,missense_variant,p.Met537Ile,ENST00000502871,NM_017593.3;BMP2K,splice_region_variant,,ENST00000628286,;BMP2K,splice_region_variant,,ENST00000389010,;BMP2K,non_coding_transcript_exon_variant,,ENST00000507670,;	T	ENST00000335016	Transcript	missense_variant,splice_region_variant	1777/3804	1611/3486	537/1161	M/I	atG/atT		1		1	BMP2K	HGNC	HGNC:18041	protein_coding	YES	CCDS47083.1	ENSP00000334836	Q9NSY1		UPI00001BDC7C	NM_198892.1	tolerated_low_confidence(0.05)		13/16		hmmpanther:PTHR22967,hmmpanther:PTHR22967:SF10,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	53	78872616	78872616	G	T	1	0	0	0	0	1	0	0	0	1615	1333	46	2		2	BMP2K	4	78872616	Missense_Mutation	SNP	G	C3N-00551_TP	2436400	78872616	111341939	176	16855											
PRDM8	0	.	GRCh38	chr4	80200247	80200247	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccctatatgacagcatagCtttcatagctctcaagtcta	11	14	5	11	0	3	1	2	1	2	0	5	1	4	1	1	0	3	3	1	0	6	7	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.167C>A	p.Ala56Asp	p.A56D	ENST00000339711	8/10	303	261	42	295	294	1	strelka-varscan-mutect	PRDM8,missense_variant,p.Ala56Asp,ENST00000339711,NM_020226.3;PRDM8,missense_variant,p.Ala56Asp,ENST00000504452,;PRDM8,missense_variant,p.Ala56Asp,ENST00000415738,NM_001099403.1;PRDM8,missense_variant,p.Ala56Asp,ENST00000515013,;PRDM8,downstream_gene_variant,,ENST00000508061,;PRDM8,downstream_gene_variant,,ENST00000511825,;PRDM8,downstream_gene_variant,,ENST00000508965,;PRDM8,downstream_gene_variant,,ENST00000507025,;PRDM8,downstream_gene_variant,,ENST00000509375,;PRDM8,downstream_gene_variant,,ENST00000506547,;	A	ENST00000339711	Transcript	missense_variant	1398/4095	167/2070	56/689	A/D	gCt/gAt		1		1	PRDM8	HGNC	HGNC:13993	protein_coding	YES	CCDS43243.1	ENSP00000339764	Q9NQV8	A0A024RDC4	UPI0000422A1D	NM_020226.3	deleterious(0)		8/10		Gene3D:2.170.270.10,PROSITE_profiles:PS50280,hmmpanther:PTHR16516,hmmpanther:PTHR16516:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	80200247	80200247	C	A	1	0	0	0	0	1	0	0	0	12594	797	28	2		2	PRDM8	4	80200247	Missense_Mutation	SNP	C	C3N-00551_TP	1327631	80200247	110014308	177	16856											
MAPK10	0	.	GRCh38	chr4	86029245	86029245	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatttttagtcttttcttCtgaattcattacttccttgt	7	22	3	9	0	4	1	1	1	3	0	5	1	5	1	2	0	1	0	2	0	3	10	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1204G>T	p.Glu402Ter	p.E402*	ENST00000359221	13/14	133	117	16	177	177	0	strelka-varscan-mutect	MAPK10,stop_gained,p.Glu257Ter,ENST00000395161,;MAPK10,stop_gained,p.Glu364Ter,ENST00000395169,NM_138980.2;MAPK10,stop_gained,p.Glu364Ter,ENST00000395166,;MAPK10,stop_gained,p.Glu402Ter,ENST00000359221,NM_138982.2;MAPK10,stop_gained,p.Glu257Ter,ENST00000449047,;MAPK10,stop_gained,p.Glu402Ter,ENST00000361569,NM_002753.3;MAPK10,stop_gained,p.Glu257Ter,ENST00000395160,NM_138981.2;MAPK10,stop_gained,p.Glu257Ter,ENST00000395157,;MAPK10,stop_gained,p.Glu315Ter,ENST00000515400,;MAPK10,3_prime_UTR_variant,,ENST00000310816,;MAPK10,non_coding_transcript_exon_variant,,ENST00000508262,;	A	ENST00000359221	Transcript	stop_gained	1731/2672	1204/1395	402/464	E/*	Gaa/Taa		1		-1	MAPK10	HGNC	HGNC:6872	protein_coding	YES	CCDS34026.1	ENSP00000352157	P53779		UPI0000049042	NM_138982.2			13/14		hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF162																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	53	86029245	86029245	C	A	1	0	0	0	0	0	1	0	0	9196	922	32	2		2	MAPK10	4	86029245	Nonsense_Mutation	SNP	C	C3N-00551_TP	5828998	86029245	104185310	178	16857											
HERC5	0	.	GRCh38	chr4	88504304	88504304	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcggtttatgaagaatttcgGagaggattttataaaatgtg	13	14	12	2	2	0	3	0	1	0	2	1	5	0	4	0	3	0	1	0	3	6	6	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2655G>T	p.=	p.R885R	ENST00000264350	21/23	162	141	21	183	183	0	strelka-varscan-mutect	HERC5,synonymous_variant,p.=,ENST00000264350,NM_016323.3;HERC5,synonymous_variant,p.=,ENST00000508159,;HERC5,non_coding_transcript_exon_variant,,ENST00000510223,;HERC5,non_coding_transcript_exon_variant,,ENST00000502913,;RP11-466G12.3,downstream_gene_variant,,ENST00000340589,;	T	ENST00000264350	Transcript	synonymous_variant	2808/3513	2655/3075	885/1024	R	cgG/cgT		1		1	HERC5	HGNC	HGNC:24368	protein_coding	YES	CCDS3630.1	ENSP00000264350	Q9UII4		UPI000013D500	NM_016323.3			21/23		Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF344,SMART_domains:SM00119,Superfamily_domains:SSF56204																	LOW	1	SNV	1			1										PASS		rs1252829120	.												T	2	4	53	88504304	88504304	G	T	1	0	0	0	0	0	0	0	1	6945	1161	41	2		2	HERC5	4	88504304	Silent	SNP	G	C3N-00551_TP	2475059	88504304	101710251	179	16858											
GRID2	0	.	GRCh38	chr4	93772105	93772105	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaattgacctggagcacctCcatagacgtgtaaatagctt	13	10	9	9	1	0	2	0	1	0	1	1	4	1	3	3	1	2	3	3	1	5	5			C3N-00551_TP	C3N-00551_NB	C	C																c.2631C>A	p.=	p.L877L	ENST00000282020	16/16	92	81	11	151	151	0	strelka-varscan-mutect	GRID2,synonymous_variant,p.=,ENST00000282020,NM_001510.3;GRID2,synonymous_variant,p.=,ENST00000611049,;GRID2,synonymous_variant,p.=,ENST00000510992,NM_001286838.1;GRID2,intron_variant,,ENST00000637838,;	A	ENST00000282020	Transcript	synonymous_variant	3666/6117	2631/3024	877/1007	L	ctC/ctA	COSM5254868	1		1	GRID2	HGNC	HGNC:4576	protein_coding	YES	CCDS3637.1	ENSP00000282020	O43424		UPI00001AEA78	NM_001510.3			16/16		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF109											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	53	93772105	93772105	C	A	1	0	0	0	0	0	0	0	1	6652	842	30	2		2	GRID2	4	93772105	Silent	SNP	C	C3N-00551_TP	5267801	93772105	96442450	180	16859											
SLC9B2	0	.	GRCh38	chr4	103048933	103048933	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatggtaaacccagcaggtAatgggcaagaagagcagatg	15	5	13	8	0	0	3	0	0	0	3	0	3	0	3	2	3	3	5	2	3	5	2	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.673T>C	p.Tyr225His	p.Y225H	ENST00000394785	6/12	185	157	28	179	179	0	strelka-varscan-mutect	SLC9B2,missense_variant,p.Tyr225His,ENST00000394785,NM_178833.5;SLC9B2,missense_variant,p.Tyr225His,ENST00000362026,;SLC9B2,missense_variant,p.Tyr168His,ENST00000503103,NM_001300756.1;SLC9B2,missense_variant,p.Tyr168His,ENST00000503230,NM_001300754.1;SLC9B2,missense_variant,p.Tyr125His,ENST00000506288,;SLC9B2,non_coding_transcript_exon_variant,,ENST00000515424,;SLC9B2,upstream_gene_variant,,ENST00000510976,;	G	ENST00000394785	Transcript	missense_variant	1305/3126	673/1614	225/537	Y/H	Tac/Cac		1		-1	SLC9B2	HGNC	HGNC:25143	protein_coding	YES	CCDS3662.1	ENSP00000378265	Q86UD5	A0A024RDJ7	UPI000020B27F	NM_178833.5	deleterious(0)		6/12		Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF6,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	53	103048933	103048933	A	G	1	0	0	0	0	1	0	0	0	15005	362	13	5		5	SLC9B2	4	103048933	Missense_Mutation	SNP	A	C3N-00551_TP	9276828	103048933	87165622	181	16860											
BDH2	0	.	GRCh38	chr4	103086531	103086531	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gataatattgccagatttctGagcaagcatctgccaaaaca	15	10	7	9	0	2	2	0	1	2	1	2	3	2	2	2	0	5	2	2	0	5	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.367C>T	p.Gln123Ter	p.Q123*	ENST00000296424	6/10	135	121	14	156	155	1	strelka-varscan-mutect	BDH2,stop_gained,p.Gln123Ter,ENST00000296424,NM_020139.3;BDH2,stop_gained,p.Gln123Ter,ENST00000504285,;BDH2,downstream_gene_variant,,ENST00000509245,;BDH2,3_prime_UTR_variant,,ENST00000511354,;BDH2,3_prime_UTR_variant,,ENST00000506521,;BDH2,non_coding_transcript_exon_variant,,ENST00000464039,;BDH2,non_coding_transcript_exon_variant,,ENST00000492366,;BDH2,non_coding_transcript_exon_variant,,ENST00000475058,;SLC9B2,upstream_gene_variant,,ENST00000508136,;	A	ENST00000296424	Transcript	stop_gained	488/1126	367/738	123/245	Q/*	Cag/Tag		1		-1	BDH2	HGNC	HGNC:32389	protein_coding	YES	CCDS3663.1	ENSP00000296424	Q9BUT1	A0A024RDG9	UPI000003E73A	NM_020139.3			6/10		hmmpanther:PTHR24321,Gene3D:3.40.50.720,Pfam_domain:PF13561,Superfamily_domains:SSF51735,Prints_domain:PR00081																	HIGH	1	SNV	1			1										PASS		rs1398294809	.												A	4	1	53	103086531	103086531	G	A	1	0	0	0	0	0	1	0	0	1538	1299	45	3		3	BDH2	4	103086531	Nonsense_Mutation	SNP	G	C3N-00551_TP	37598	103086531	87128024	182	16861											
ETNPPL	0	.	GRCh38	chr4	108760216	108760216	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattgttgatgcagtccaaGtactgttcaccgttctcatc	9	14	7	11	1	2	1	2	1	1	0	5	1	3	1	2	0	2	5	2	0	2	5	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.147C>A	p.Tyr49Ter	p.Y49*	ENST00000296486	2/13	104	82	22	107	107	0	strelka-mutect	ETNPPL,stop_gained,p.Tyr49Ter,ENST00000296486,NM_031279.3;ETNPPL,stop_gained,p.Tyr49Ter,ENST00000411864,NM_001146590.1;ETNPPL,stop_gained,p.Tyr9Ter,ENST00000510706,;ETNPPL,intron_variant,,ENST00000512646,NM_001146627.1;ETNPPL,intron_variant,,ENST00000512320,;ETNPPL,intron_variant,,ENST00000510723,;ETNPPL,stop_gained,p.Tyr49Ter,ENST00000505233,;ETNPPL,intron_variant,,ENST00000509402,;	T	ENST00000296486	Transcript	stop_gained	302/2099	147/1500	49/499	Y/*	taC/taA		1		-1	ETNPPL	HGNC	HGNC:14404	protein_coding	YES	CCDS3682.1	ENSP00000296486	Q8TBG4		UPI000004B638	NM_031279.3			2/13		hmmpanther:PTHR11986:SF63,hmmpanther:PTHR11986,Gene3D:3.90.1150.10,Pfam_domain:PF00202,Superfamily_domains:SSF53383																	HIGH	1	SNV	1			1										PASS		rs764832748	.												T	4	4	53	108760216	108760216	G	T	1	0	0	0	0	0	1	0	0	5138	1024	36	2		2	ETNPPL	4	108760216	Nonsense_Mutation	SNP	G	C3N-00551_TP	5673685	108760216	81454339	183	16862											
SEC24B	0	.	GRCh38	chr4	109520403	109520403	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaagaataggattcatgAcctttgatagcactattcat	15	12	7	7	0	2	3	2	2	0	1	2	5	2	4	1	1	2	1	1	1	6	6	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.2254A>G	p.Thr752Ala	p.T752A	ENST00000504968	13/25	103	97	6	201	201	0	strelka-mutect	SEC24B,missense_variant,p.Thr722Ala,ENST00000265175,NM_001318085.1,NM_006323.3;SEC24B,missense_variant,p.Thr752Ala,ENST00000504968,NM_001300813.1;SEC24B,missense_variant,p.Thr687Ala,ENST00000399100,NM_001042734.2;	G	ENST00000504968	Transcript	missense_variant	2352/4066	2254/3897	752/1298	T/A	Acc/Gcc		1		1	SEC24B	HGNC	HGNC:10704	protein_coding	YES	CCDS75179.1	ENSP00000428564	O95487		UPI000189A7A7	NM_001300813.1	tolerated(0.2)		13/25		hmmpanther:PTHR13803:SF7,hmmpanther:PTHR13803,Pfam_domain:PF04811,Gene3D:3.40.50.410,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	109520403	109520403	A	G	1	0	0	0	0	1	0	0	0	14272	275	10	5		5	SEC24B	4	109520403	Missense_Mutation	SNP	A	C3N-00551_TP	760187	109520403	80694152	184	16863											
RRH	0	.	GRCh38	chr4	109844092	109844092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttatcgtaggtttcggagGgcaatgcttgccatgttcaa	8	15	11	7	2	1	0	1	0	0	0	3	1	1	1	1	3	2	5	1	3	4	6	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.909G>C	p.Arg303Ser	p.R303S	ENST00000317735	7/7	336	294	42	480	480	0	strelka-varscan-mutect	RRH,missense_variant,p.Arg303Ser,ENST00000317735,NM_006583.2;LRIT3,upstream_gene_variant,,ENST00000594814,NM_198506.4;	C	ENST00000317735	Transcript	missense_variant	943/1455	909/1014	303/337	R/S	agG/agC		1		1	RRH	HGNC	HGNC:10450	protein_coding	YES	CCDS3687.1	ENSP00000314992	O14718		UPI000005043C	NM_006583.2	tolerated(0.09)		7/7		hmmpanther:PTHR24240,hmmpanther:PTHR24240:SF77,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	109844092	109844092	G	C	1	0	0	0	0	1	0	0	0	13934	1223	43	4		4	RRH	4	109844092	Missense_Mutation	SNP	G	C3N-00551_TP	323689	109844092	80370463	185	16864											
LRIT3	0	.	GRCh38	chr4	109870446	109870446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctccccagaaagaccaatGcatcaccttttctactgaaa	13	9	5	14	0	2	3	1	1	1	2	3	3	3	3	5	0	2	1	5	0	4	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1697G>A	p.Cys566Tyr	p.C566Y	ENST00000594814	4/4	136	116	20	142	142	0	strelka-varscan-mutect	LRIT3,missense_variant,p.Cys383Tyr,ENST00000327908,;LRIT3,missense_variant,p.Cys566Tyr,ENST00000594814,NM_198506.4;	A	ENST00000594814	Transcript	missense_variant	1697/3566	1697/2040	566/679	C/Y	tGc/tAc		1		1	LRIT3	HGNC	HGNC:24783	protein_coding	YES	CCDS3688.3	ENSP00000469759	Q3SXY7		UPI0000F07E94	NM_198506.4	deleterious(0)		4/4		PROSITE_profiles:PS50853,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF236																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	53	109870446	109870446	G	A	1	0	0	0	0	1	0	0	0	8844	1319	46	3		3	LRIT3	4	109870446	Missense_Mutation	SNP	G	C3N-00551_TP	26354	109870446	80344109	186	16865											
ANK2	0	.	GRCh38	chr4	113358035	113358035	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaattggtcaagaatccagGgaagagactctctctgaaga	15	8	10	8	0	3	4	1	1	2	3	5	6	4	5	1	2	0	0	1	2	5	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.9417G>A	p.=	p.R3139R	ENST00000357077	38/46	468	411	57	580	580	0	strelka-varscan-mutect	ANK2,synonymous_variant,p.=,ENST00000357077,NM_001148.4;ANK2,synonymous_variant,p.=,ENST00000264366,;ANK2,synonymous_variant,p.=,ENST00000505342,;ANK2,3_prime_UTR_variant,,ENST00000612754,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;	A	ENST00000357077	Transcript	synonymous_variant	9470/14196	9417/11874	3139/3957	R	agG/agA		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4			38/46		hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	113358035	113358035	G	A	1	0	0	0	0	0	0	0	1	721	1223	43	3		3	ANK2	4	113358035	Silent	SNP	G	C3N-00551_TP	3487589	113358035	76856520	187	16866											
DCHS2	0	.	GRCh38	chr4	154333056	154333056	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcggccctgagagtcAgcgtgagctcccgctgctcg	4	8	14	15	4	1	2	1	2	0	1	5	3	3	2	3	2	3	3	3	2	0	0	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.1655T>A	p.Leu552Gln	p.L552Q	ENST00000623607	9/25	168	143	25	159	159	0	strelka-varscan-mutect	DCHS2,missense_variant,p.Leu552Gln,ENST00000357232,;DCHS2,missense_variant,p.Leu552Gln,ENST00000623607,NM_017639.3;DCHS2,missense_variant,p.Leu1051Gln,ENST00000339452,NM_001142552.1;DCHS2,non_coding_transcript_exon_variant,,ENST00000507542,;DCHS2,downstream_gene_variant,,ENST00000504580,;DCHS2,non_coding_transcript_exon_variant,,ENST00000624983,;	T	ENST00000623607	Transcript	missense_variant	1655/8912	1655/8751	552/2916	L/Q	cTg/cAg		1		-1	DCHS2	HGNC	HGNC:23111	protein_coding	YES	CCDS3785.1	ENSP00000485514	Q6V1P9		UPI000035B018	NM_017639.3	deleterious(0)		9/25		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	154333056	154333056	A	T	1	0	0	0	0	1	0	0	0	4091	188	7	4		4	DCHS2	4	154333056	Missense_Mutation	SNP	A	C3N-00551_TP	40975021	154333056	35881499	188	16867											
GRIA2	0	.	GRCh38	chr4	157341321	157341321	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttaccctgatcataatCtcctcctacacggctaactt	9	15	3	14	1	3	1	1	1	2	0	5	1	4	1	3	1	3	1	3	1	4	7			C3N-00551_TP	C3N-00551_NB	C	C																c.1902C>A	p.=	p.I634I	ENST00000296526	12/16	243	218	25	275	275	0	strelka-varscan-mutect	GRIA2,synonymous_variant,p.=,ENST00000296526,NM_000826.3;GRIA2,synonymous_variant,p.=,ENST00000393815,NM_001083620.1;GRIA2,synonymous_variant,p.=,ENST00000264426,NM_001083619.1;GRIA2,synonymous_variant,p.=,ENST00000507898,;GRIA2,upstream_gene_variant,,ENST00000510854,;GRIA2,synonymous_variant,p.=,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	A	ENST00000296526	Transcript	synonymous_variant	2227/5621	1902/2652	634/883	I	atC/atA	COSM281518,COSM281519	1		1	GRIA2	HGNC	HGNC:4572	protein_coding	YES	CCDS3797.1	ENSP00000296526	P42262		UPI000002AA8D	NM_000826.3			12/16		Gene3D:1.10.287.70,Pfam_domain:PF00060,Prints_domain:PR00177,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF206,SMART_domains:SM00079,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	53	157341321	157341321	C	A	1	0	0	0	0	0	0	0	1	6648	903	32	2		2	GRIA2	4	157341321	Silent	SNP	C	C3N-00551_TP	3008265	157341321	32873234	189	16868											
TKTL2	0	.	GRCh38	chr4	163472685	163472685	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgaatatctcagaaaaGgtggagttcatcgtgtcacc	11	12	9	9	1	3	2	3	1	1	1	6	3	4	3	2	2	0	1	2	2	4	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1050C>A	p.=	p.T350T	ENST00000280605	1/1	116	100	16	219	219	0	strelka-varscan-mutect	TKTL2,synonymous_variant,p.=,ENST00000280605,NM_032136.4;	T	ENST00000280605	Transcript	synonymous_variant	1062/2654	1050/1881	350/626	T	acC/acA		1		-1	TKTL2	HGNC	HGNC:25313	protein_coding	YES	CCDS3805.1	ENSP00000280605	Q9H0I9	A0A140VKC2	UPI0000037C67	NM_032136.4			1/1		hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF49,Gene3D:3.40.50.970,Pfam_domain:PF02779,SMART_domains:SM00861,Superfamily_domains:SSF52518																	LOW	1	SNV				1										PASS		.	.												T	2	4	53	163472685	163472685	G	T	1	0	0	0	0	0	0	0	1	16379	987	35	2		2	TKTL2	4	163472685	Silent	SNP	G	C3N-00551_TP	6131364	163472685	26741870	190	16869											
TRIM60	0	.	GRCh38	chr4	165040865	165040865	+	Missense_Mutation	SNP	C	C	A																															agtatcaaaacctaaaatgcCctgaactcttttcatttaga																								novel		C3N-00551_TP	C3N-00551_NB	C	C																c.793C>A	p.Pro265Thr	p.P265T	ENST00000512596	3/3	76	71	5	88	88	0	strelka-varscan-mutect	TRIM60,missense_variant,p.Pro265Thr,ENST00000512596,NM_152620.2;TRIM60,missense_variant,p.Pro265Thr,ENST00000341062,;TRIM60,missense_variant,p.Pro265Thr,ENST00000508504,NM_001258025.1;TRIM60,downstream_gene_variant,,ENST00000507119,;	A	ENST00000512596	Transcript	missense_variant	1009/1888	793/1416	265/471	P/T	Cct/Act		1		1	TRIM60	HGNC	HGNC:21162	protein_coding	YES	CCDS3808.1	ENSP00000421142	Q495X7		UPI000006DAAD	NM_152620.2	deleterious(0.01)		3/3		hmmpanther:PTHR24103:SF304,hmmpanther:PTHR24103																	MODERATE	1	SNV	2			1										PASS		rs1296843838	.												A	3	1	53	165040865	165040865	C	A	1	0	0	0	0	1	0	0	0	17027	623	22	2		2	TRIM60	4	165040865	Missense_Mutation	SNP	C	C3N-00551_TP	1568180	165040865	25173690	191	16870	364	2									
TRIM60	0	.	GRCh38	chr4	165040866	165040866	+	Missense_Mutation	SNP	C	C	A																															gtatcaaaacctaaaatgccCtgaactcttttcatttagat																								novel		C3N-00551_TP	C3N-00551_NB	C	C																c.794C>A	p.Pro265His	p.P265H	ENST00000512596	3/3	75	69	6	87	87	0	strelka-mutect	TRIM60,missense_variant,p.Pro265His,ENST00000512596,NM_152620.2;TRIM60,missense_variant,p.Pro265His,ENST00000341062,;TRIM60,missense_variant,p.Pro265His,ENST00000508504,NM_001258025.1;TRIM60,downstream_gene_variant,,ENST00000507119,;	A	ENST00000512596	Transcript	missense_variant	1010/1888	794/1416	265/471	P/H	cCt/cAt		1		1	TRIM60	HGNC	HGNC:21162	protein_coding	YES	CCDS3808.1	ENSP00000421142	Q495X7		UPI000006DAAD	NM_152620.2	deleterious(0)		3/3		hmmpanther:PTHR24103:SF304,hmmpanther:PTHR24103																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	53	165040866	165040866	C	A	1	0	0	0	0	1	0	0	0	17027	681	24	2		2	TRIM60	4	165040866	Missense_Mutation	SNP	C	C3N-00551_TP	1	165040866	25173689	192	16871	364	2									
DDX60	0	.	GRCh38	chr4	168267983	168267983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattttaccgattgtagccaCcttaaaaaataaatgtacat	16	13	4	8	1	0	0	0	0	0	0	0	1	0	0	3	0	3	2	3	0	8	7	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2787G>T	p.Glu929Asp	p.E929D	ENST00000393743	21/38	70	61	9	93	93	0	strelka-varscan-mutect	DDX60,missense_variant,p.Glu929Asp,ENST00000393743,NM_017631.5;DDX60,upstream_gene_variant,,ENST00000505393,;DDX60,missense_variant,p.Glu20Asp,ENST00000513997,;	A	ENST00000393743	Transcript	missense_variant,splice_region_variant	3079/6071	2787/5139	929/1712	E/D	gaG/gaT		1		-1	DDX60	HGNC	HGNC:25942	protein_coding	YES	CCDS34097.1	ENSP00000377344	Q8IY21		UPI000020B6AB	NM_017631.5	deleterious(0.03)		21/38		PROSITE_profiles:PS51192,Gene3D:3.40.50.300,SMART_domains:SM00487																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	168267983	168267983	C	A	1	0	0	0	0	1	0	0	0	4181	521	18	2		2	DDX60	4	168267983	Missense_Mutation	SNP	C	C3N-00551_TP	3227117	168267983	21946572	193	16872											
ING2	0	.	GRCh38	chr4	183510917	183510917	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaaacaatggacaaaagtActgaaaagacaaaaaaggat	25	4	8	4	0	0	3	0	1	0	2	0	5	0	5	0	2	2	1	0	2	11	1	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.808A>T	p.Thr270Ser	p.T270S	ENST00000302327	2/2	64	56	8	85	85	0	strelka-varscan-mutect	ING2,missense_variant,p.Thr270Ser,ENST00000302327,NM_001564.3;ING2,downstream_gene_variant,,ENST00000412117,;	T	ENST00000302327	Transcript	missense_variant	1010/1189	808/843	270/280	T/S	Act/Tct		1		1	ING2	HGNC	HGNC:6063	protein_coding	YES	CCDS3833.1	ENSP00000307183	Q9H160		UPI000003BC86	NM_001564.3	tolerated_low_confidence(0.18)		2/2		hmmpanther:PTHR10333,hmmpanther:PTHR10333:SF37																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	183510917	183510917	A	T	1	0	0	0	0	1	0	0	0	7638	391	14	4		4	ING2	4	183510917	Missense_Mutation	SNP	A	C3N-00551_TP	15242934	183510917	6703638	194	16873											
CASP3	0	.	GRCh38	chr4	184635340	184635340	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaattattatacataaaccCatctcaggataatccatttt	15	16	2	8	0	1	0	1	0	1	0	3	1	2	1	2	1	2	0	2	1	7	8	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.132G>T	p.Met44Ile	p.M44I	ENST00000308394	4/8	97	91	6	157	157	0	strelka-mutect	CASP3,missense_variant,p.Met44Ile,ENST00000308394,NM_004346.3;CASP3,missense_variant,p.Met44Ile,ENST00000393585,;CASP3,missense_variant,p.Met44Ile,ENST00000523916,NM_032991.2;CASP3,missense_variant,p.Met44Ile,ENST00000517513,;CASP3,missense_variant,p.Met44Ile,ENST00000393588,;CASP3,missense_variant,p.Met44Ile,ENST00000447121,;	A	ENST00000308394	Transcript	missense_variant	395/2673	132/834	44/277	M/I	atG/atT		1		-1	CASP3	HGNC	HGNC:1504	protein_coding	YES	CCDS3836.1	ENSP00000311032	P42574		UPI000000D90B	NM_004346.3	tolerated(0.7)		4/8		PROSITE_profiles:PS50208,hmmpanther:PTHR10454:SF30,hmmpanther:PTHR10454,Gene3D:3.40.50.1460,SMART_domains:SM00115,Superfamily_domains:SSF52129,Prints_domain:PR00376																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	184635340	184635340	C	A	1	0	0	0	0	1	0	0	0	2372	594	21	2		2	CASP3	4	184635340	Missense_Mutation	SNP	C	C3N-00551_TP	1124423	184635340	5579215	195	16874											
SLC6A19	0	.	GRCh38	chr5	1216931	1216931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagacctgcgacatcaacGccttcctctcagaggtaggt	9	9	9	14	2	2	2	2	0	1	2	5	3	4	2	4	2	2	1	4	2	2	2	rs550686902		C3N-00551_TP	C3N-00551_NB	G	G																c.1159G>T	p.Ala387Ser	p.A387S	ENST00000304460	8/12	779	711	68	404	404	0	strelka-varscan-mutect	SLC6A19,missense_variant,p.Ala387Ser,ENST00000304460,NM_001003841.2;SLC6A19,3_prime_UTR_variant,,ENST00000515652,;	T	ENST00000304460	Transcript	missense_variant	1215/5174	1159/1905	387/634	A/S	Gcc/Tcc	rs550686902,COSM5484735	1		1	SLC6A19	HGNC	HGNC:27960	protein_coding	YES	CCDS34130.1	ENSP00000305302	Q695T7		UPI0000401AF8	NM_001003841.2	tolerated(1)		8/12		Pfam_domain:PF00209,PROSITE_profiles:PS50267											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs550686902	.												T	3	4	53	1216931	1216931	G	T	1	0	0	0	0	1	0	0	0	14965	1087	38	1		1	SLC6A19	5	1216931	Missense_Mutation	SNP	G	C3N-00551_TP		1216931	180321328	196	16875											
IRX4	0	.	GRCh38	chr5	1878041	1878041	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgcctgcagctggggcGtcctggggcacggcaggcgg	3	4	21	13	5	0	0	0	0	0	0	1	0	1	0	2	8	2	4	2	8	0	0			C3N-00551_TP	C3N-00551_NB	G	G																c.1566C>T	p.=	p.D522D	ENST00000613726	7/7	127	120	7	151	151	0	strelka-varscan-mutect	IRX4,synonymous_variant,p.=,ENST00000505790,NM_001278634.1;IRX4,synonymous_variant,p.=,ENST00000613726,NM_001278635.1;IRX4,synonymous_variant,p.=,ENST00000622814,NM_001278633.1;IRX4,synonymous_variant,p.=,ENST00000513692,NM_001278632.1;IRX4,synonymous_variant,p.=,ENST00000231357,NM_016358.2;IRX4,downstream_gene_variant,,ENST00000511126,;IRX4,downstream_gene_variant,,ENST00000505938,;IRX4,3_prime_UTR_variant,,ENST00000508261,;	A	ENST00000613726	Transcript	synonymous_variant	1789/2403	1566/1638	522/545	D	gaC/gaT	COSM5081483,COSM5081484	1		-1	IRX4	HGNC	HGNC:6129	protein_coding	YES	CCDS75225.1	ENSP00000482393	P78413		UPI000020BF08	NM_001278635.1			7/7		hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF16,Low_complexity_(Seg):seg											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1333692482	.												A	2	1	53	1878041	1878041	G	A	1	0	0	0	0	0	0	0	1	7754	1136	40	1		1	IRX4	5	1878041	Silent	SNP	G	C3N-00551_TP	661110	1878041	179660218	197	16876											
ICE1	0	.	GRCh38	chr5	5461016	5461016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgatgggatcgcccaaatCagagtttactaagtggacac	14	9	10	8	1	1	2	1	1	0	1	2	4	1	4	1	2	1	1	1	2	4	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1682C>T	p.Ser561Leu	p.S561L	ENST00000296564	13/19	348	328	20	202	202	0	strelka-varscan-mutect	ICE1,missense_variant,p.Ser561Leu,ENST00000296564,NM_015325.2;	T	ENST00000296564	Transcript	missense_variant	1904/7927	1682/6801	561/2266	S/L	tCa/tTa		1		1	ICE1	HGNC	HGNC:29154	protein_coding	YES	CCDS47187.1	ENSP00000296564	Q9Y2F5		UPI00015542F9	NM_015325.2	tolerated(0.19)		13/19		hmmpanther:PTHR11852:SF4,hmmpanther:PTHR11852																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	5461016	5461016	C	T	1	0	0	0	0	1	0	0	0	7384	838	29	3		3	ICE1	5	5461016	Missense_Mutation	SNP	C	C3N-00551_TP	3582975	5461016	176077243	198	16877											
ICE1	0	.	GRCh38	chr5	5473737	5473737	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatggatctggacgcatgaTaacatcataaggttagttat	15	12	9	5	1	2	1	1	1	1	0	2	3	2	3	0	3	1	3	0	3	5	4	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.6402T>G	p.Asp2134Glu	p.D2134E	ENST00000296564	16/19	159	147	12	166	166	0	strelka-varscan-mutect	ICE1,missense_variant,p.Asp2134Glu,ENST00000296564,NM_015325.2;	G	ENST00000296564	Transcript	missense_variant	6624/7927	6402/6801	2134/2266	D/E	gaT/gaG		1		1	ICE1	HGNC	HGNC:29154	protein_coding	YES	CCDS47187.1	ENSP00000296564	Q9Y2F5		UPI00015542F9	NM_015325.2	deleterious(0)		16/19		hmmpanther:PTHR11852:SF4,hmmpanther:PTHR11852																	MODERATE	1	SNV	1			1										PASS		rs1425870309	.												G	3	3	53	5473737	5473737	T	G	1	0	0	0	0	1	0	0	0	7384	1403	49	5		5	ICE1	5	5473737	Missense_Mutation	SNP	T	C3N-00551_TP	12721	5473737	176064522	199	16878											
NSUN2	0	.	GRCh38	chr5	6632679	6632679	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccccactcgccctcgggCacgatcttgagctcctggta	5	9	11	16	3	1	1	0	1	1	0	4	2	2	1	4	3	1	3	4	3	1	2	rs745966593		C3N-00551_TP	C3N-00551_NB	C	C																c.174G>T	p.=	p.V58V	ENST00000264670	2/19	336	315	21	224	224	0	strelka-varscan-mutect	NSUN2,synonymous_variant,p.=,ENST00000264670,NM_017755.5;NSUN2,synonymous_variant,p.=,ENST00000506139,NM_001193455.1;SRD5A1,upstream_gene_variant,,ENST00000274192,NM_001047.2;SRD5A1,upstream_gene_variant,,ENST00000504286,;NSUN2,synonymous_variant,p.=,ENST00000504374,;SRD5A1,upstream_gene_variant,,ENST00000510531,;SRD5A1,upstream_gene_variant,,ENST00000513117,;	A	ENST00000264670	Transcript	synonymous_variant	486/3303	174/2304	58/767	V	gtG/gtT	rs745966593	1		-1	NSUN2	HGNC	HGNC:25994	protein_coding	YES	CCDS3869.1	ENSP00000264670	Q08J23		UPI000020BF2B	NM_017755.5			2/19		hmmpanther:PTHR22808,hmmpanther:PTHR22808:SF11,Superfamily_domains:SSF53335																	LOW	1	SNV	1			1										PASS		rs745966593	.												A	2	1	53	6632679	6632679	C	A	1	0	0	0	0	0	0	0	1	10741	697	25	2		2	NSUN2	5	6632679	Silent	SNP	C	C3N-00551_TP	1158942	6632679	174905580	200	16879											
CMBL	0	.	GRCh38	chr5	10282226	10282226	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatcacaacatcattttCagcaaaaatgaacaaagtgg	18	9	7	7	0	3	1	3	1	0	0	3	2	3	2	0	2	3	1	0	2	6	2	rs769323134		C3N-00551_TP	C3N-00551_NB	C	C																c.529G>T	p.Glu177Ter	p.E177*	ENST00000296658	5/6	242	165	77	244	243	1	strelka-varscan-mutect	CMBL,stop_gained,p.Glu177Ter,ENST00000296658,NM_138809.3;CMBL,non_coding_transcript_exon_variant,,ENST00000503834,;CMBL,intron_variant,,ENST00000510532,;CMBL,downstream_gene_variant,,ENST00000506821,;CMBL,downstream_gene_variant,,ENST00000511963,;	A	ENST00000296658	Transcript	stop_gained	950/2335	529/738	177/245	E/*	Gaa/Taa	rs769323134	1		-1	CMBL	HGNC	HGNC:25090	protein_coding	YES	CCDS3878.1	ENSP00000296658	Q96DG6		UPI00000411DF	NM_138809.3			5/6		Gene3D:3.40.50.1820,Pfam_domain:PF01738,hmmpanther:PTHR17630,hmmpanther:PTHR17630:SF44,Superfamily_domains:SSF53474																	HIGH	1	SNV	1			1										PASS		rs769323134	.												A	4	1	53	10282226	10282226	C	A	1	0	0	0	0	0	1	0	0	3349	835	29	2		2	CMBL	5	10282226	Nonsense_Mutation	SNP	C	C3N-00551_TP	3649547	10282226	171256033	201	16880											
DNAH5	0	.	GRCh38	chr5	13871624	13871624	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcattaatttcctgctCtaggttttggaaatagagaa	12	14	8	7	0	2	1	1	0	1	1	3	3	3	2	1	2	2	3	1	2	5	6	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.3538G>T	p.Glu1180Ter	p.E1180*	ENST00000265104	23/79	376	210	166	285	285	0	strelka-varscan-mutect	DNAH5,stop_gained,p.Glu1180Ter,ENST00000265104,NM_001369.2;CTB-51A17.1,intron_variant,,ENST00000637153,;CTB-51A17.1,intron_variant,,ENST00000503244,;	A	ENST00000265104	Transcript	stop_gained	3643/15633	3538/13875	1180/4624	E/*	Gag/Tag		1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2			23/79		hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	53	13871624	13871624	C	A	1	0	0	0	0	0	1	0	0	4419	922	32	2		2	DNAH5	5	13871624	Nonsense_Mutation	SNP	C	C3N-00551_TP	3589398	13871624	167666635	202	16881											
TRIO	0	.	GRCh38	chr5	14508384	14508384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcgacctatccgtagcattAaaaactttctgcagagcagg	12	11	8	10	2	1	1	0	0	1	1	3	2	2	1	2	1	4	4	2	1	5	5	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.9256A>G	p.Lys3086Glu	p.K3086E	ENST00000344204	57/57	123	111	12	110	110	0	strelka-varscan-mutect	TRIO,missense_variant,p.Lys3086Glu,ENST00000344204,NM_007118.2;TRIO,missense_variant,p.Lys585Glu,ENST00000344135,;TRIO,intron_variant,,ENST00000513206,;TRIO,intron_variant,,ENST00000620511,;TRIO,3_prime_UTR_variant,,ENST00000512070,;TRIO,downstream_gene_variant,,ENST00000508717,;TRIO,downstream_gene_variant,,ENST00000508283,;	G	ENST00000344204	Transcript	missense_variant	9280/11100	9256/9294	3086/3097	K/E	Aaa/Gaa		1		1	TRIO	HGNC	HGNC:12303	protein_coding	YES	CCDS3883.1	ENSP00000339299	O75962		UPI000034ECE6	NM_007118.2	deleterious_low_confidence(0.01)		57/57																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	14508384	14508384	A	G	1	0	0	0	0	1	0	0	0	17049	363	13	5		5	TRIO	5	14508384	Missense_Mutation	SNP	A	C3N-00551_TP	636760	14508384	167029875	203	16882											
FAM105A	0	.	GRCh38	chr5	14608950	14608950	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgttttccagggagacatCctctgatcctttgagcttca	7	14	8	12	0	2	3	1	2	1	1	5	4	5	3	4	1	1	2	4	1	0	4	rs142414423		C3N-00551_TP	C3N-00551_NB	C	C																c.830C>A	p.Ser277Tyr	p.S277Y	ENST00000274217	7/8	213	192	21	209	209	0	strelka-varscan-mutect	FAM105A,missense_variant,p.Ser277Tyr,ENST00000274217,NM_019018.2;FAM105A,upstream_gene_variant,,ENST00000506258,;FAM105A,downstream_gene_variant,,ENST00000513825,;	A	ENST00000274217	Transcript	missense_variant	950/3597	830/1071	277/356	S/Y	tCc/tAc	rs142414423	1		1	FAM105A	HGNC	HGNC:25629	protein_coding	YES	CCDS3884.1	ENSP00000274217	Q9NUU6		UPI000004A036	NM_019018.2	deleterious(0)		7/8		Pfam_domain:PF16218,Prints_domain:PR02055,hmmpanther:PTHR33662,hmmpanther:PTHR33662:SF1																	MODERATE	1	SNV	1			1										PASS		rs142414423	.												A	3	1	53	14608950	14608950	C	A	1	0	0	0	0	1	0	0	0	5255	855	30	2		2	FAM105A	5	14608950	Missense_Mutation	SNP	C	C3N-00551_TP	100566	14608950	166929309	204	16883											
PRDM9	0	.	GRCh38	chr5	23522668	23522668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctgcccatgggccccCtacatttgtaaaggacagtg	8	10	11	12	0	0	0	0	0	0	0	0	1	0	1	3	2	3	2	3	2	3	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.665C>A	p.Pro222His	p.P222H	ENST00000296682	8/11	389	307	82	489	489	0	strelka-varscan-mutect	PRDM9,missense_variant,p.Pro222His,ENST00000296682,NM_020227.2;PRDM9,missense_variant,p.Pro163His,ENST00000635252,;	A	ENST00000296682	Transcript	missense_variant	847/3691	665/2685	222/894	P/H	cCt/cAt		1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	deleterious(0)		8/11		hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,Pfam_domain:PF00856																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	23522668	23522668	C	A	1	0	0	0	0	1	0	0	0	12595	681	24	2		2	PRDM9	5	23522668	Missense_Mutation	SNP	C	C3N-00551_TP	8913718	23522668	158015591	205	16884											
ADAMTS12	0	.	GRCh38	chr5	33576759	33576759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgggaagtgaggatgggCtgggaagtgcttccagtgga	9	9	19	4	0	0	1	0	1	0	0	1	6	1	5	1	5	1	2	1	5	2	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.3267G>T	p.Gln1089His	p.Q1089H	ENST00000504830	19/24	321	208	113	372	370	2	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Gln1089His,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Gln1004His,ENST00000352040,;ADAMTS12,downstream_gene_variant,,ENST00000504582,;	A	ENST00000504830	Transcript	missense_variant	3603/8774	3267/4785	1089/1594	Q/H	caG/caT		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	tolerated(0.17)		19/24																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	33576759	33576759	C	A	1	0	0	0	0	1	0	0	0	301	796	28	2		2	ADAMTS12	5	33576759	Missense_Mutation	SNP	C	C3N-00551_TP	10054091	33576759	147961500	206	16885											
BRIX1	0	.	GRCh38	chr5	34925385	34925385	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaggagaaaccaatagaaAtacagtgggtaaaaccagag	19	5	11	6	0	0	4	0	1	0	3	0	5	0	4	2	2	3	1	2	2	7	3	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.952A>G	p.Ile318Val	p.I318V	ENST00000336767	10/10	335	309	26	365	364	1	strelka-varscan-mutect	BRIX1,missense_variant,p.Ile318Val,ENST00000336767,NM_018321.3;DNAJC21,upstream_gene_variant,,ENST00000382021,NM_194283.3;DNAJC21,upstream_gene_variant,,ENST00000342382,NM_001012339.2;BRIX1,downstream_gene_variant,,ENST00000506023,;BRIX1,non_coding_transcript_exon_variant,,ENST00000515798,;BRIX1,downstream_gene_variant,,ENST00000510834,;BRIX1,downstream_gene_variant,,ENST00000510960,;	G	ENST00000336767	Transcript	missense_variant	1315/1926	952/1062	318/353	I/V	Ata/Gta		1		1	BRIX1	HGNC	HGNC:24170	protein_coding	YES	CCDS34143.1	ENSP00000338862	Q8TDN6		UPI000007186B	NM_018321.3	tolerated(0.28)		10/10		hmmpanther:PTHR13634:SF0,hmmpanther:PTHR13634																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	34925385	34925385	A	G	1	0	0	0	0	1	0	0	0	1689	101	4	5		5	BRIX1	5	34925385	Missense_Mutation	SNP	A	C3N-00551_TP	1348626	34925385	146612874	207	16886											
UGT3A1	0	.	GRCh38	chr5	35957290	35957290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtccatatcactccttGagggaggtgggcaaaggcat	11	9	12	9	0	1	1	1	1	0	0	3	2	3	2	2	4	0	2	2	4	2	2	rs753596965		C3N-00551_TP	C3N-00551_NB	G	G																c.973C>A	p.Gln325Lys	p.Q325K	ENST00000274278	5/7	389	365	24	419	419	0	strelka-varscan-mutect	UGT3A1,missense_variant,p.Gln325Lys,ENST00000274278,NM_152404.3;UGT3A1,missense_variant,p.Gln325Lys,ENST00000503189,;UGT3A1,missense_variant,p.Gln291Lys,ENST00000507113,;UGT3A1,downstream_gene_variant,,ENST00000625798,NM_001171873.1;UGT3A1,non_coding_transcript_exon_variant,,ENST00000513233,;UGT3A1,3_prime_UTR_variant,,ENST00000515801,;	T	ENST00000274278	Transcript	missense_variant	1331/5122	973/1572	325/523	Q/K	Caa/Aaa	rs753596965	1		-1	UGT3A1	HGNC	HGNC:26625	protein_coding	YES	CCDS3913.1	ENSP00000274278	Q6NUS8	A8K444	UPI000003C38B	NM_152404.3	deleterious(0.01)		5/7		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF208,Gene3D:3.40.50.2000,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		rs753596965	.												T	3	4	53	35957290	35957290	G	T	1	0	0	0	0	1	0	0	0	17487	1299	45	2		2	UGT3A1	5	35957290	Missense_Mutation	SNP	G	C3N-00551_TP	1031905	35957290	145580969	208	16887											
EGFLAM	0	.	GRCh38	chr5	38435235	38435235	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggtgtcctgaagcctttCagcgggagcatccagaaggt	8	9	14	10	2	1	2	1	1	0	1	4	3	3	3	3	3	3	1	3	3	2	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2265C>A	p.Phe755Leu	p.F755L	ENST00000354891	16/23	161	151	10	155	155	0	strelka-varscan-mutect	EGFLAM,missense_variant,p.Phe755Leu,ENST00000322350,NM_152403.3;EGFLAM,missense_variant,p.Phe755Leu,ENST00000354891,NM_001205301.1;EGFLAM,missense_variant,p.Phe521Leu,ENST00000336740,NM_182798.2;EGFLAM,missense_variant,p.Phe121Leu,ENST00000397202,;	A	ENST00000354891	Transcript	missense_variant	2611/3963	2265/3054	755/1017	F/L	ttC/ttA		1		1	EGFLAM	HGNC	HGNC:26810	protein_coding	YES	CCDS56363.1	ENSP00000346964	Q63HQ2		UPI000022C806	NM_001205301.1	deleterious(0.02)		16/23		PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF00054,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	38435235	38435235	C	A	1	0	0	0	0	1	0	0	0	4802	825	29	2		2	EGFLAM	5	38435235	Missense_Mutation	SNP	C	C3N-00551_TP	2477945	38435235	143103024	209	16888											
MROH2B	0	.	GRCh38	chr5	41018913	41018913	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttgtccttgtctgtctgGccttcacttttcagattttc	3	20	6	12	0	4	1	2	0	2	1	7	1	6	1	3	1	0	0	3	1	0	7			C3N-00551_TP	C3N-00551_NB	G	G																c.2547C>A	p.=	p.G849G	ENST00000399564	25/42	189	146	43	188	188	0	strelka-mutect	MROH2B,synonymous_variant,p.=,ENST00000399564,NM_173489.4;MROH2B,synonymous_variant,p.=,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;	T	ENST00000399564	Transcript	synonymous_variant	2998/5239	2547/4758	849/1585	G	ggC/ggA	COSM5518582	1		-1	MROH2B	HGNC	HGNC:26857	protein_coding	YES	CCDS47202.1	ENSP00000382476	Q7Z745		UPI000020CA04	NM_173489.4			25/42		hmmpanther:PTHR23120:SF22,hmmpanther:PTHR23120,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371											1						LOW	1	SNV	1		1	1										PASS		rs1268829035	.												T	2	4	53	41018913	41018913	G	T	1	0	0	0	0	0	0	0	1	9745	1190	42	2		2	MROH2B	5	41018913	Silent	SNP	G	C3N-00551_TP	2583678	41018913	140519346	210	16889											
ZSWIM6	0	.	GRCh38	chr5	61332446	61332446	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggcggcggcggcgtgcggGggcggcgcggcgctggggtt	0	4	26	11	10	0	0	0	0	0	0	0	0	0	0	0	10	1	2	0	10	0	1	rs571004627		C3N-00551_TP	C3N-00551_NB	G	G																c.174G>T	p.=	p.G58G	ENST00000252744	1/14	20	14	6	21	21	0	strelka-varscan-mutect	ZSWIM6,synonymous_variant,p.=,ENST00000252744,NM_020928.1;	T	ENST00000252744	Transcript	synonymous_variant	174/5501	174/3648	58/1215	G	ggG/ggT	rs571004627	1		1	ZSWIM6	HGNC	HGNC:29316	protein_coding	YES	CCDS47215.1	ENSP00000252744	Q9HCJ5		UPI0001837EA2	NM_020928.1			1/14		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs571004627	.												T	2	4	53	61332446	61332446	G	T	1	0	0	0	0	0	0	0	1	18846	1219	43	2		2	ZSWIM6	5	61332446	Silent	SNP	G	C3N-00551_TP	20313533	61332446	120205813	211	16890											
CCNB1	0	.	GRCh38	chr5	69175062	69175062	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagctttaaactttggtctGggtcggcctctacctttgca	7	14	10	10	1	2	1	0	0	2	1	3	1	2	1	2	3	4	2	2	3	3	5	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.891G>T	p.=	p.L297L	ENST00000256442	6/9	230	163	67	282	281	1	strelka-varscan-mutect	CCNB1,synonymous_variant,p.=,ENST00000256442,NM_031966.3;CCNB1,synonymous_variant,p.=,ENST00000506572,;CCNB1,synonymous_variant,p.=,ENST00000505500,;CCNB1,synonymous_variant,p.=,ENST00000508407,;CCNB1,synonymous_variant,p.=,ENST00000507798,;CCNB1,downstream_gene_variant,,ENST00000503507,;CCNB1,upstream_gene_variant,,ENST00000513102,;	T	ENST00000256442	Transcript	synonymous_variant	1144/2169	891/1302	297/433	L	ctG/ctT		1		1	CCNB1	HGNC	HGNC:1579	protein_coding	YES	CCDS3997.1	ENSP00000256442	P14635		UPI00001275A9	NM_031966.3			6/9		hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF193,Pfam_domain:PF00134,Gene3D:1.10.472.10,PIRSF_domain:PIRSF001771,Superfamily_domains:SSF47954																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	69175062	69175062	G	T	1	0	0	0	0	0	0	0	1	2610	1335	47	2		2	CCNB1	5	69175062	Silent	SNP	G	C3N-00551_TP	7842616	69175062	112363197	212	16891											
OCLN	0	.	GRCh38	chr5	69514022	69514025	+	Frame_Shift_Del	DEL	AAGA	AAGA	-																															ttctttgctgtgaaaactcgAagaaagatggacaggtatga																								novel		C3N-00551_TP	C3N-00551_NB	AAGA	AAGA																c.808_811delAAGA	p.Lys270TrpfsTer61	p.K270Wfs*61	ENST00000355237	4/9	355	306	49	410	410	0	sindel-varindel-pindel	OCLN,frameshift_variant,p.Lys270TrpfsTer61,ENST00000355237,NM_002538.3;OCLN,frameshift_variant,p.Lys19TrpfsTer61,ENST00000538151,NM_001205255.1;OCLN,frameshift_variant,p.Lys270TrpfsTer61,ENST00000396442,NM_001205254.1;	-	ENST00000355237	Transcript	frameshift_variant	1240-1243/6438	804-807/1569	268-269/522	RR/X	cgAAGA/cg		1		1	OCLN	HGNC	HGNC:8104	protein_coding	YES	CCDS4006.1	ENSP00000347379	Q16625		UPI00000341F0	NM_002538.3			4/9		PROSITE_profiles:PS51225,hmmpanther:PTHR23288:SF4,hmmpanther:PTHR23288,PIRSF_domain:PIRSF005993,Superfamily_domains:SSF103473																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	53	69514022	69514022	AAGA	-	1	0	1	0	1	0	0	0	0	10897	233	9	0		0	OCLN	5	69514022	Frame_Shift_Del	DEL	AAGA	C3N-00551_TP	338960	69514022	112024237	213	16892											
UTP15	0	.	GRCh38	chr5	73579096	73579096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaggagtccttgcaaatgCgcttgcaggtcgggatgaga	11	8	15	7	2	0	2	0	1	0	2	2	5	1	4	1	3	3	3	1	3	2	2	rs761103496		C3N-00551_TP	C3N-00551_NB	C	C																c.1226C>T	p.Ala409Val	p.A409V	ENST00000296792	11/13	212	192	20	296	296	0	strelka-varscan-mutect	UTP15,missense_variant,p.Ala219Val,ENST00000543251,NM_001284431.1;UTP15,missense_variant,p.Ala409Val,ENST00000296792,NM_032175.3;UTP15,missense_variant,p.Ala436Val,ENST00000509005,;UTP15,missense_variant,p.Ala390Val,ENST00000508491,NM_001284430.1;UTP15,downstream_gene_variant,,ENST00000512550,;	T	ENST00000296792	Transcript	missense_variant	1481/3687	1226/1557	409/518	A/V	gCg/gTg	rs761103496,COSM1069948	1		1	UTP15	HGNC	HGNC:25758	protein_coding	YES	CCDS34186.1	ENSP00000296792	Q8TED0		UPI000020CADC	NM_032175.3	deleterious(0)		11/13		hmmpanther:PTHR19924:SF26,hmmpanther:PTHR19924,Pfam_domain:PF09384											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs761103496	.												T	3	4	53	73579096	73579096	C	T	1	0	0	0	0	1	0	0	0	17640	768	27	1		1	UTP15	5	73579096	Missense_Mutation	SNP	C	C3N-00551_TP	4065074	73579096	107959163	214	16893											
PDE8B	0	.	GRCh38	chr5	77409051	77409051	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgatcttgttggaggcctGatgactgtgagtgatgaggc	8	12	16	5	0	1	6	0	6	1	0	1	7	1	7	1	3	0	1	1	3	0	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1524G>A	p.=	p.L508L	ENST00000264917	14/22	368	280	88	517	517	0	strelka-varscan-mutect	PDE8B,synonymous_variant,p.=,ENST00000264917,NM_003719.3;PDE8B,synonymous_variant,p.=,ENST00000340978,NM_001029854.2;PDE8B,synonymous_variant,p.=,ENST00000346042,NM_001029851.2;PDE8B,synonymous_variant,p.=,ENST00000342343,NM_001029853.2;PDE8B,intron_variant,,ENST00000333194,NM_001029852.2;PDE8B,upstream_gene_variant,,ENST00000505283,;	A	ENST00000264917	Transcript	synonymous_variant	1569/5956	1524/2658	508/885	L	ctG/ctA		1		1	PDE8B	HGNC	HGNC:8794	protein_coding	YES	CCDS4037.1	ENSP00000264917	O95263		UPI0000001BBE	NM_003719.3			14/22		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF98																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	77409051	77409051	G	A	1	0	0	0	0	0	0	0	1	11742	1277	45	3		3	PDE8B	5	77409051	Silent	SNP	G	C3N-00551_TP	3829955	77409051	104129208	215	16894											
MEF2C	0	.	GRCh38	chr5	88722718	88722718	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcgttccggtgatcctcTcggtcgctcccgtcgtacga	5	12	10	14	7	1	1	0	1	1	0	8	2	4	1	3	2	1	3	3	2	2	3	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1338A>T	p.=	p.R446R	ENST00000340208	12/12	309	266	43	402	402	0	strelka-varscan-mutect	MEF2C,synonymous_variant,p.=,ENST00000504921,NM_001193350.1,NM_002397.4;MEF2C,synonymous_variant,p.=,ENST00000424173,NM_001131005.2;MEF2C,synonymous_variant,p.=,ENST00000340208,NM_001193347.1;MEF2C,synonymous_variant,p.=,ENST00000637481,NM_001308002.1;MEF2C,synonymous_variant,p.=,ENST00000636998,;MEF2C,synonymous_variant,p.=,ENST00000625674,;MEF2C,synonymous_variant,p.=,ENST00000437473,;MEF2C,synonymous_variant,p.=,ENST00000625585,;MEF2C,synonymous_variant,p.=,ENST00000510942,;MEF2C,synonymous_variant,p.=,ENST00000514028,;MEF2C,synonymous_variant,p.=,ENST00000637732,;MEF2C,synonymous_variant,p.=,ENST00000629612,;MEF2C,synonymous_variant,p.=,ENST00000514015,;MEF2C,synonymous_variant,p.=,ENST00000636294,;MEF2C,synonymous_variant,p.=,ENST00000627659,;MEF2C,synonymous_variant,p.=,ENST00000508569,;MEF2C,synonymous_variant,p.=,ENST00000503554,;MEF2C,synonymous_variant,p.=,ENST00000628656,NM_001193348.1;MEF2C,synonymous_variant,p.=,ENST00000626391,NM_001193349.1;MEF2C,3_prime_UTR_variant,,ENST00000506554,;MEF2C,3_prime_UTR_variant,,ENST00000627717,;MEF2C,3_prime_UTR_variant,,ENST00000627170,;CTC-467M3.1,non_coding_transcript_exon_variant,,ENST00000510274,;MEF2C,non_coding_transcript_exon_variant,,ENST00000636143,;MEF2C,downstream_gene_variant,,ENST00000510980,;	A	ENST00000340208	Transcript	synonymous_variant	1715/6192	1338/1452	446/483	R	cgA/cgT		1		-1	MEF2C	HGNC	HGNC:6996	protein_coding	YES	CCDS54878.1	ENSP00000340874	Q06413		UPI0000D9B539	NM_001193347.1			12/12																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	88722718	88722718	T	A	1	0	0	0	0	0	0	0	1	9397	1538	54	4		4	MEF2C	5	88722718	Silent	SNP	T	C3N-00551_TP	11313667	88722718	92815541	216	16895											
ADGRV1	0	.	GRCh38	chr5	90802835	90802835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccaacaattcttcaggaaGcaaaatctgctgtccttcca	12	11	6	12	0	3	0	1	0	2	0	5	1	5	1	3	1	4	2	3	1	5	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.14614G>T	p.Ala4872Ser	p.A4872S	ENST00000405460	71/90	138	115	23	158	158	0	strelka-varscan-mutect	ADGRV1,missense_variant,p.Ala4872Ser,ENST00000405460,NM_032119.3;ADGRV1,missense_variant,p.Ala533Ser,ENST00000425867,;ADGRV1,upstream_gene_variant,,ENST00000513828,;	T	ENST00000405460	Transcript	missense_variant	14710/19338	14614/18921	4872/6306	A/S	Gca/Tca		1		1	ADGRV1	HGNC	HGNC:17416	protein_coding	YES	CCDS47246.1	ENSP00000384582	Q8WXG9		UPI00002127A7	NM_032119.3	deleterious(0.05)		71/90		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	90802835	90802835	G	T	1	0	0	0	0	1	0	0	0	379	971	34	2		2	ADGRV1	5	90802835	Missense_Mutation	SNP	G	C3N-00551_TP	2080117	90802835	90735424	217	16896											
MEGF10	0	.	GRCh38	chr5	127420151	127420151	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgcaacaccctggacGggacctgcacgtgtgcacct	8	6	12	15	2	0	0	0	0	0	0	0	3	0	2	4	2	5	3	4	2	1	0	rs758236594		C3N-00551_TP	C3N-00551_NB	G	G																c.1534G>C	p.Gly512Arg	p.G512R	ENST00000274473	13/26	178	146	32	225	225	0	strelka-varscan-mutect	MEGF10,missense_variant,p.Gly512Arg,ENST00000274473,NM_032446.2;MEGF10,missense_variant,p.Gly512Arg,ENST00000503335,NM_001256545.1;MEGF10,missense_variant,p.Gly512Arg,ENST00000508365,NM_001308121.1;MEGF10,missense_variant,p.Gly512Arg,ENST00000418761,;MEGF10,upstream_gene_variant,,ENST00000506709,;MEGF10,downstream_gene_variant,,ENST00000515002,;	C	ENST00000274473	Transcript	missense_variant	1801/7594	1534/3423	512/1140	G/R	Ggg/Cgg	rs758236594	1		1	MEGF10	HGNC	HGNC:29634	protein_coding	YES	CCDS4142.1	ENSP00000274473	Q96KG7		UPI000006F868	NM_032446.2	deleterious(0)		13/26		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF75,SMART_domains:SM00180,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		rs758236594	.												C	3	2	53	127420151	127420151	G	C	1	0	0	0	0	1	0	0	0	9400	1116	39	4		4	MEGF10	5	127420151	Missense_Mutation	SNP	G	C3N-00551_TP	36617316	127420151	54118108	218	16897											
SOWAHA	0	.	GRCh38	chr5	132814841	132814841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtgctgctggtggtgcGtctgggtgcccaggtgcacg	2	10	18	11	3	1	0	0	0	1	0	1	0	1	0	2	4	6	3	2	4	0	0	rs763068818		C3N-00551_TP	C3N-00551_NB	G	G																c.1220G>A	p.Arg407His	p.R407H	ENST00000378693	1/1	45	36	9	48	48	0	strelka-varscan-mutect	SOWAHA,missense_variant,p.Arg407His,ENST00000378693,NM_175873.5;AC004775.5,downstream_gene_variant,,ENST00000607389,;	A	ENST00000378693	Transcript	missense_variant	1255/3211	1220/1650	407/549	R/H	cGt/cAt	rs763068818,COSM1433082	1		1	SOWAHA	HGNC	HGNC:27033	protein_coding	YES	CCDS43361.1	ENSP00000367965	Q2M3V2		UPI000156802F	NM_175873.5	tolerated(0.11)		1/1		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR14491,hmmpanther:PTHR14491:SF2,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403											0,1						MODERATE	1	SNV			0,1	1										PASS		rs763068818	.												A	3	1	53	132814841	132814841	G	A	1	0	0	0	0	1	0	0	0	15262	1145	40	1		1	SOWAHA	5	132814841	Missense_Mutation	SNP	G	C3N-00551_TP	5394690	132814841	48723418	219	16898											
PCDHA10	0	.	GRCh38	chr5	140857383	140857383	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtgtctgtggaggtggcCgacgtgaacgacaacgcgcc	8	6	16	11	6	1	1	0	1	1	0	1	4	1	2	2	3	3	0	2	3	2	0	rs781834606		C3N-00551_TP	C3N-00551_NB	C	C																c.1335C>A	p.=	p.A445A	ENST00000307360	1/4	490	405	85	704	704	0	strelka-varscan-mutect	PCDHA10,synonymous_variant,p.=,ENST00000562220,NM_031859.2;PCDHA10,synonymous_variant,p.=,ENST00000307360,NM_018901.3;PCDHA10,synonymous_variant,p.=,ENST00000506939,NM_031860.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA9,downstream_gene_variant,,ENST00000378122,NM_014005.4;PCDHA14,upstream_gene_variant,,ENST00000506751,;	A	ENST00000307360	Transcript	synonymous_variant	1335/5254	1335/2847	445/948	A	gcC/gcA	rs781834606,COSM3851113,COSM3851114,COSM3851115	1		1	PCDHA10	HGNC	HGNC:8664	protein_coding	YES	CCDS54921.1	ENSP00000304234	Q9Y5I2		UPI00001273D3	NM_018901.3			1/4		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF124,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs781834606	.												A	2	1	53	140857383	140857383	C	A	1	0	0	0	0	0	0	0	1	11607	639	23	1		1	PCDHA10	5	140857383	Silent	SNP	C	C3N-00551_TP	8042542	140857383	40680876	220	16899											
PCDHB6	0	.	GRCh38	chr5	141152394	141152394	+	Missense_Mutation	SNP	A	A	T																															tcgtggcggtgcggctgtgcAggaggagcagggcggcctcg																								novel		C3N-00551_TP	C3N-00551_NB	A	A																c.2137A>T	p.Arg713Trp	p.R713W	ENST00000231136	1/1	291	245	46	346	345	1	strelka-varscan-mutect	PCDHB6,missense_variant,p.Arg713Trp,ENST00000231136,NM_018939.3;PCDHB6,missense_variant,p.Arg577Trp,ENST00000622991,NM_001303145.1;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000624802,;AC005754.7,upstream_gene_variant,,ENST00000625066,;PCDHB17P,upstream_gene_variant,,ENST00000623466,;PCDHB17P,upstream_gene_variant,,ENST00000539533,;	T	ENST00000231136	Transcript	missense_variant	2373/3266	2137/2385	713/794	R/W	Agg/Tgg		1		1	PCDHB6	HGNC	HGNC:8691	protein_coding	YES	CCDS4248.1	ENSP00000231136	Q9Y5E3		UPI0003CC25E7	NM_018939.3	deleterious(0.02)		1/1		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	53	141152394	141152394	A	T	1	0	0	0	0	1	0	0	0	11633	179	7	4		4	PCDHB6	5	141152394	Missense_Mutation	SNP	A	C3N-00551_TP	295011	141152394	40385865	221	16900	365	2									
PCDHB6	0	.	GRCh38	chr5	141152395	141152395	+	Missense_Mutation	SNP	G	G	A																															cgtggcggtgcggctgtgcaGgaggagcagggcggcctcgg																								novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2138G>A	p.Arg713Lys	p.R713K	ENST00000231136	1/1	292	245	47	340	339	1	strelka-varscan-mutect	PCDHB6,missense_variant,p.Arg713Lys,ENST00000231136,NM_018939.3;PCDHB6,missense_variant,p.Arg577Lys,ENST00000622991,NM_001303145.1;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000624802,;AC005754.7,upstream_gene_variant,,ENST00000625066,;PCDHB17P,upstream_gene_variant,,ENST00000623466,;PCDHB17P,upstream_gene_variant,,ENST00000539533,;	A	ENST00000231136	Transcript	missense_variant	2374/3266	2138/2385	713/794	R/K	aGg/aAg		1		1	PCDHB6	HGNC	HGNC:8691	protein_coding	YES	CCDS4248.1	ENSP00000231136	Q9Y5E3		UPI0003CC25E7	NM_018939.3	tolerated(0.12)		1/1		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	53	141152395	141152395	G	A	1	0	0	0	0	1	0	0	0	11633	1000	35	3		3	PCDHB6	5	141152395	Missense_Mutation	SNP	G	C3N-00551_TP	1	141152395	40385864	222	16901	365	2									
JAKMIP2	0	.	GRCh38	chr5	147628818	147628818	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcatttcttaaattcTgtaaaaaataagaaaggccg	15	14	6	6	1	4	1	1	0	3	1	4	1	4	1	1	1	0	2	1	1	7	7	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1930-2A>G		p.X644_splice	ENST00000616793		107	90	17	128	128	0	strelka-varscan-mutect	JAKMIP2,splice_acceptor_variant,,ENST00000616793,NM_001270941.1;JAKMIP2,splice_acceptor_variant,,ENST00000265272,NM_014790.4;JAKMIP2,splice_acceptor_variant,,ENST00000507386,NM_001270934.1;JAKMIP2,splice_acceptor_variant,,ENST00000333010,NM_001282282.1;JAKMIP2-AS1,intron_variant,,ENST00000626945,;JAKMIP2-AS1,intron_variant,,ENST00000627433,;JAKMIP2-AS1,intron_variant,,ENST00000630514,;JAKMIP2-AS1,upstream_gene_variant,,ENST00000630801,;JAKMIP2,downstream_gene_variant,,ENST00000504845,;	C	ENST00000616793	Transcript	splice_acceptor_variant	-/9272	1930/2463	644/820				1		-1	JAKMIP2	HGNC	HGNC:29067	protein_coding	YES	CCDS75352.1	ENSP00000479248	Q96AA8		UPI0000E5AC9B	NM_001270941.1				15/21																		HIGH		SNV	5			1										PASS		.	.												C	5	2	53	147628818	147628818	T	C	1	0	0	0	0	0	0	1	0	7854	1594	55	5		5	JAKMIP2	5	147628818	Splice_Site	SNP	T	C3N-00551_TP	6476423	147628818	33909441	223	16902											
ATP10B	0	.	GRCh38	chr5	160632352	160632352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgagtccagctcctttgggGtctccagtcgcttagctgca	5	12	11	13	1	1	1	0	1	1	0	5	1	3	1	3	2	3	4	3	2	1	2			C3N-00551_TP	C3N-00551_NB	G	G																c.1397C>A	p.Thr466Asn	p.T466N	ENST00000327245	13/26	134	113	21	161	160	1	strelka-varscan-mutect	ATP10B,missense_variant,p.Thr466Asn,ENST00000327245,NM_025153.2;ATP10B,missense_variant,p.Thr74Asn,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;ATP10B,downstream_gene_variant,,ENST00000326831,;ATP10B,downstream_gene_variant,,ENST00000517802,;ATP10B,downstream_gene_variant,,ENST00000521033,;	T	ENST00000327245	Transcript	missense_variant	2244/7566	1397/4386	466/1461	T/N	aCc/aAc	COSM5615495	1		-1	ATP10B	HGNC	HGNC:13543	protein_coding	YES	CCDS43394.1	ENSP00000313600	O94823		UPI0000191DAE	NM_025153.2	deleterious(0.03)		13/26		hmmpanther:PTHR24092:SF79,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	53	160632352	160632352	G	T	1	0	0	0	0	1	0	0	0	1269	1261	44	2		2	ATP10B	5	160632352	Missense_Mutation	SNP	G	C3N-00551_TP	13003534	160632352	20905907	224	16903											
GABRA6	0	.	GRCh38	chr5	161689041	161689041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgagtctgaataatttGatggtcagtaaaatctggac	13	14	9	5	0	4	3	1	3	3	0	4	4	4	4	0	2	0	1	0	2	4	4			C3N-00551_TP	C3N-00551_NB	G	G																c.318G>T	p.Leu106Phe	p.L106F	ENST00000274545	4/9	318	270	48	487	486	1	strelka-varscan-mutect	GABRA6,missense_variant,p.Leu96Phe,ENST00000523217,;GABRA6,missense_variant,p.Leu106Phe,ENST00000274545,NM_000811.2;GABRA6,missense_variant,p.Leu46Phe,ENST00000520000,;GABRA6,missense_variant,p.Leu1Phe,ENST00000523691,;GABRA6,missense_variant,p.Leu53Phe,ENST00000517823,;RP11-348M17.2,intron_variant,,ENST00000521984,;GABRA6,downstream_gene_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,non_coding_transcript_exon_variant,,ENST00000524220,;GABRA6,upstream_gene_variant,,ENST00000521520,;	T	ENST00000274545	Transcript	missense_variant	751/2128	318/1362	106/453	L/F	ttG/ttT	COSM3613553	1		1	GABRA6	HGNC	HGNC:4080	protein_coding	YES	CCDS4356.1	ENSP00000274545	Q16445		UPI000013DA14	NM_000811.2	tolerated(0.38)		4/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR01079											1						MODERATE	1	SNV	1		1	1										PASS		rs1208616228	.												T	3	4	53	161689041	161689041	G	T	1	0	0	0	0	1	0	0	0	6036	1281	45	2		2	GABRA6	5	161689041	Missense_Mutation	SNP	G	C3N-00551_TP	1056689	161689041	19849218	225	16904											
C5orf58	0	.	GRCh38	chr5	170246034	170246034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagactgagaacttagcagAagcagaaagaaacaaccccc	19	3	8	11	0	0	5	0	1	0	5	0	6	0	5	2	0	5	2	2	0	7	1	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.230A>G	p.Glu77Gly	p.E77G	ENST00000593851	4/4	175	162	13	194	194	0	strelka-varscan-mutect	C5orf58,missense_variant,p.Glu56Gly,ENST00000521850,;C5orf58,missense_variant,p.Glu77Gly,ENST00000593851,NM_001102609.1;C5orf58,missense_variant,p.Glu56Gly,ENST00000421269,;C5orf58,intron_variant,,ENST00000524171,;C5orf58,intron_variant,,ENST00000517575,;LCP2,downstream_gene_variant,,ENST00000046794,NM_005565.3;LCP2,downstream_gene_variant,,ENST00000628092,;LCP2,downstream_gene_variant,,ENST00000521416,;C5orf58,non_coding_transcript_exon_variant,,ENST00000518395,;LCP2,downstream_gene_variant,,ENST00000520322,;	G	ENST00000593851	Transcript	missense_variant	313/509	230/309	77/102	E/G	gAa/gGa		1		1	C5orf58	HGNC	HGNC:37272	protein_coding	YES		ENSP00000490013	C9J3I9		UPI0000160413	NM_001102609.1	deleterious(0)		4/4																			MODERATE		SNV	2			1										PASS		.	.												G	3	3	53	170246034	170246034	A	G	1	0	0	0	0	1	0	0	0	2108	246	9	5		5	C5orf58	5	170246034	Missense_Mutation	SNP	A	C3N-00551_TP	8556993	170246034	11292225	226	16905											
KCNMB1	0	.	GRCh38	chr5	170378934	170378934	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctccacgtcggcccgggCcgtctggtaattgtccacgc	4	10	11	16	5	2	0	0	0	2	0	5	0	3	0	4	3	0	1	4	3	1	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.346G>T	p.Ala116Ser	p.A116S	ENST00000274629	4/4	139	114	25	194	194	0	varscan-mutect	KCNMB1,missense_variant,p.Ala116Ser,ENST00000274629,NM_004137.3;KCNIP1,intron_variant,,ENST00000377360,NM_001034838.2;KCNMB1,downstream_gene_variant,,ENST00000521859,;KCNIP1,intron_variant,,ENST00000518527,;KCNIP1,intron_variant,,ENST00000517344,;	A	ENST00000274629	Transcript	missense_variant	789/5052	346/576	116/191	A/S	Gcc/Tcc		1		-1	KCNMB1	HGNC	HGNC:6285	protein_coding	YES	CCDS4373.1	ENSP00000274629	Q16558		UPI0000000DBA	NM_004137.3	tolerated(0.17)		4/4		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10258:SF1,hmmpanther:PTHR10258,Pfam_domain:PF03185																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	170378934	170378934	C	A	1	0	0	0	0	1	0	0	0	7991	739	26	2		2	KCNMB1	5	170378934	Missense_Mutation	SNP	C	C3N-00551_TP	132900	170378934	11159325	227	16906											
NEURL1B	0	.	GRCh38	chr5	172683827	172683827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcgtggaggtgggccGtccggggctggcggcgcccg	1	7	19	14	6	1	0	0	0	1	0	3	1	2	1	4	7	0	1	4	7	0	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.986G>T	p.Arg329Leu	p.R329L	ENST00000369800	3/5	22	14	8	39	39	0	strelka-varscan-mutect	NEURL1B,missense_variant,p.Arg329Leu,ENST00000369800,NM_001142651.1;NEURL1B,missense_variant,p.Arg147Leu,ENST00000522853,;NEURL1B,intron_variant,,ENST00000520919,NM_001308178.1;	T	ENST00000369800	Transcript	missense_variant	1127/6424	986/1668	329/555	R/L	cGt/cTt		1		1	NEURL1B	HGNC	HGNC:35422	protein_coding	YES	CCDS47342.1	ENSP00000358815	A8MQ27		UPI0000D6E5EA	NM_001142651.1	tolerated(0.05)		3/5		PROSITE_profiles:PS51065,hmmpanther:PTHR12429,Pfam_domain:PF07177,SMART_domains:SM00588																	MODERATE	1	SNV	1			1										PASS		rs1372646676	.												T	3	4	53	172683827	172683827	G	T	1	0	0	0	0	1	0	0	0	10381	1145	40	1		1	NEURL1B	5	172683827	Missense_Mutation	SNP	G	C3N-00551_TP	2304893	172683827	8854432	228	16907											
LRRC16A	0	.	GRCh38	chr6	25500206	25500206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtaatcataacttgaaaGgggtttctctggatctcagc	10	14	9	8	0	3	1	2	1	2	0	5	2	3	2	0	3	2	2	0	3	3	5	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1366G>T	p.Gly456Trp	p.G456W	ENST00000329474	17/37	239	215	24	305	305	0	strelka-varscan-mutect	LRRC16A,missense_variant,p.Gly456Trp,ENST00000329474,NM_001173977.1,NM_017640.5;LRRC16A,missense_variant,p.Gly46Trp,ENST00000635618,;	T	ENST00000329474	Transcript	missense_variant	1734/5431	1366/4116	456/1371	G/W	Ggg/Tgg		1		1	LRRC16A	HGNC	HGNC:21581	protein_coding	YES	CCDS54973.1	ENSP00000331983	Q5VZK9		UPI00004588AB	NM_001173977.1,NM_017640.5	deleterious(0)		17/37		Gene3D:3.80.10.10,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF39,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	25500206	25500206	G	T	1	0	0	0	0	1	0	0	0	8867	1000	35	2		2	LRRC16A	6	25500206	Missense_Mutation	SNP	G	C3N-00551_TP		25500206	145305773	229	16908											
SLC17A2	0	.	GRCh38	chr6	25918543	25918543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagattagtccccccacaCagaggatgatgaaggatcca	13	7	11	10	0	0	4	0	3	0	2	2	7	2	6	4	2	0	0	4	2	2	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.593G>T	p.Cys198Phe	p.C198F	ENST00000377850	6/12	259	238	21	288	288	0	strelka-varscan-mutect	SLC17A2,missense_variant,p.Cys198Phe,ENST00000377850,NM_001286123.1;SLC17A2,missense_variant,p.Cys198Phe,ENST00000360488,NM_005835.3,NM_001286125.1;SLC17A2,missense_variant,p.Cys198Phe,ENST00000265425,;	A	ENST00000377850	Transcript	missense_variant	1126/2524	593/1437	198/478	C/F	tGt/tTt		1		-1	SLC17A2	HGNC	HGNC:10930	protein_coding	YES	CCDS69060.1	ENSP00000367081	O00624		UPI000052BFEE	NM_001286123.1	deleterious(0.03)		6/12		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF193,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	53	25918543	25918543	C	A	1	0	0	0	0	1	0	0	0	14682	478	17	2		2	SLC17A2	6	25918543	Missense_Mutation	SNP	C	C3N-00551_TP	418337	25918543	144887436	230	16909											
SLC17A2	0	.	GRCh38	chr6	25921066	25921066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagcccactttgcccaaaTagtaaactgacctgtccatg	12	9	8	12	0	0	1	0	1	0	0	1	2	1	2	4	1	3	1	4	1	4	3	rs776445761		C3N-00551_TP	C3N-00551_NB	T	T																c.502A>G	p.Ile168Val	p.I168V	ENST00000377850	5/12	238	213	25	345	345	0	strelka-varscan-mutect	SLC17A2,missense_variant,p.Ile168Val,ENST00000377850,NM_001286123.1;SLC17A2,missense_variant,p.Ile168Val,ENST00000360488,NM_005835.3,NM_001286125.1;SLC17A2,missense_variant,p.Ile168Val,ENST00000265425,;	C	ENST00000377850	Transcript	missense_variant	1035/2524	502/1437	168/478	I/V	Att/Gtt	rs776445761	1		-1	SLC17A2	HGNC	HGNC:10930	protein_coding	YES	CCDS69060.1	ENSP00000367081	O00624		UPI000052BFEE	NM_001286123.1	tolerated(0.07)		5/12		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF193,Superfamily_domains:SSF103473																	MODERATE	1	SNV	5			1										PASS		rs776445761	.												C	3	2	53	25921066	25921066	T	C	1	0	0	0	0	1	0	0	0	14682	1406	49	5		5	SLC17A2	6	25921066	Missense_Mutation	SNP	T	C3N-00551_TP	2523	25921066	144884913	231	16910											
BTN1A1	0	.	GRCh38	chr6	26508840	26508840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggacccctctcccattggCagggcccccacgccgggttg	4	6	12	19	3	1	0	0	0	1	0	2	1	1	1	7	4	0	2	7	4	0	2			C3N-00551_TP	C3N-00551_NB	C	C																c.1247C>A	p.Ala416Glu	p.A416E	ENST00000244513	7/7	188	158	30	179	179	0	strelka-varscan-mutect	BTN1A1,missense_variant,p.Ala416Glu,ENST00000244513,NM_001732.2;BTN1A1,missense_variant,p.Ala416Glu,ENST00000613186,;	A	ENST00000244513	Transcript	missense_variant	1313/2895	1247/1581	416/526	A/E	gCa/gAa	COSM5258622	1		1	BTN1A1	HGNC	HGNC:1135	protein_coding	YES	CCDS4614.1	ENSP00000244513	Q13410		UPI000006E521	NM_001732.2	tolerated(0.45)		7/7		Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF47,Low_complexity_(Seg):seg,SMART_domains:SM00449,Superfamily_domains:SSF49899											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	53	26508840	26508840	C	A	1	0	0	0	0	1	0	0	0	1735	710	25	2		2	BTN1A1	6	26508840	Missense_Mutation	SNP	C	C3N-00551_TP	587774	26508840	144297139	232	16911											
HIST1H2AK	0	.	GRCh38	chr6	27838161	27838161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagttccaggatctcggcgGttaggtactccaacaccgcc	8	8	10	15	3	1	0	0	0	1	0	4	1	3	1	5	4	2	3	5	4	3	3	rs781034322		C3N-00551_TP	C3N-00551_NB	G	G																c.179C>T	p.Thr60Ile	p.T60I	ENST00000618958	1/1	207	191	16	232	232	0	strelka-varscan-mutect	HIST1H2AK,missense_variant,p.Thr60Ile,ENST00000618958,NM_003510.2;HIST1H2BN,5_prime_UTR_variant,,ENST00000612898,NM_003520.3;HIST1H2BN,upstream_gene_variant,,ENST00000606613,;HIST1H2BN,upstream_gene_variant,,ENST00000396980,;HIST1H2BN,upstream_gene_variant,,ENST00000449538,;	A	ENST00000618958	Transcript	missense_variant	179/393	179/393	60/130	T/I	aCc/aTc	rs781034322	1		-1	HIST1H2AK	HGNC	HGNC:4726	protein_coding	YES	CCDS4632.1	ENSP00000482431	P0C0S8	A4FTV9	UPI0000000E01	NM_003510.2	deleterious_low_confidence(0)		1/1		Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00620,hmmpanther:PTHR23430,SMART_domains:SM00414,Superfamily_domains:SSF47113																	MODERATE	1	SNV				1										PASS		rs781034322	.												A	3	1	53	27838161	27838161	G	A	1	0	0	0	0	1	0	0	0	7025	1261	44	3		3	HIST1H2AK	6	27838161	Missense_Mutation	SNP	G	C3N-00551_TP	1329321	27838161	142967818	233	16912											
HIST1H1B	0	.	GRCh38	chr6	27867274	27867274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcaccaagctcttgaggcCcagcttaatgcggctgttat	8	11	10	12	1	2	1	1	1	1	0	2	1	2	1	2	2	3	5	2	2	3	3	rs760223590		C3N-00551_TP	C3N-00551_NB	C	C																c.256G>A	p.Gly86Ser	p.G86S	ENST00000331442	1/1	420	359	61	445	445	0	strelka-varscan-mutect	HIST1H1B,missense_variant,p.Gly86Ser,ENST00000331442,NM_005322.2;HIST1H2BN,downstream_gene_variant,,ENST00000396980,;HIST1H3I,downstream_gene_variant,,ENST00000616365,NM_003533.2;HIST1H2AL,downstream_gene_variant,,ENST00000613174,NM_003511.2;HIST1H2BPS2,upstream_gene_variant,,ENST00000402707,;	T	ENST00000331442	Transcript	missense_variant	256/681	256/681	86/226	G/S	Ggc/Agc	rs760223590	1		-1	HIST1H1B	HGNC	HGNC:4719	protein_coding	YES	CCDS4635.1	ENSP00000330074	P16401		UPI0000001BDA	NM_005322.2	tolerated(0.06)		1/1		PROSITE_profiles:PS51504,hmmpanther:PTHR11467:SF24,hmmpanther:PTHR11467,Pfam_domain:PF00538,Gene3D:1.10.10.10,SMART_domains:SM00526,Superfamily_domains:SSF46785,Prints_domain:PR00624																	MODERATE	1	SNV				1										PASS		rs760223590	.												T	3	4	53	27867274	27867274	C	T	1	0	0	0	0	1	0	0	0	7011	623	22	3		3	HIST1H1B	6	27867274	Missense_Mutation	SNP	C	C3N-00551_TP	29113	27867274	142938705	234	16913											
BAG6	0	.	GRCh38	chr6	31643933	31643933	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgccccacaaggccgctCaccatctgggccaacgaggc	9	4	11	17	2	2	0	1	0	1	0	2	1	2	0	5	3	3	2	5	3	2	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1623G>T	p.=	p.V541V	ENST00000375964	13/25	161	144	17	234	234	0	strelka-varscan-mutect	BAG6,synonymous_variant,p.=,ENST00000375964,NM_004639.3;BAG6,synonymous_variant,p.=,ENST00000211379,NM_080703.2,NM_080702.2;BAG6,synonymous_variant,p.=,ENST00000375976,NM_001098534.1;BAG6,synonymous_variant,p.=,ENST00000362049,NM_001199698.1;BAG6,synonymous_variant,p.=,ENST00000439687,NM_001199697.1;BAG6,synonymous_variant,p.=,ENST00000437771,;BAG6,synonymous_variant,p.=,ENST00000438149,;BAG6,synonymous_variant,p.=,ENST00000453833,;BAG6,downstream_gene_variant,,ENST00000435080,;BAG6,downstream_gene_variant,,ENST00000424480,;BAG6,downstream_gene_variant,,ENST00000428326,;BAG6,downstream_gene_variant,,ENST00000451898,;BAG6,downstream_gene_variant,,ENST00000433828,;BAG6,downstream_gene_variant,,ENST00000452994,;BAG6,downstream_gene_variant,,ENST00000456622,;BAG6,downstream_gene_variant,,ENST00000456286,;BAG6,upstream_gene_variant,,ENST00000441793,;BAG6,downstream_gene_variant,,ENST00000434444,;BAG6,downstream_gene_variant,,ENST00000424176,;BAG6,downstream_gene_variant,,ENST00000441054,;BAG6,downstream_gene_variant,,ENST00000454165,;BAG6,upstream_gene_variant,,ENST00000422948,;BAG6,non_coding_transcript_exon_variant,,ENST00000470875,;BAG6,non_coding_transcript_exon_variant,,ENST00000469182,;BAG6,non_coding_transcript_exon_variant,,ENST00000465348,;BAG6,upstream_gene_variant,,ENST00000464126,;BAG6,upstream_gene_variant,,ENST00000464869,;BAG6,downstream_gene_variant,,ENST00000462682,;BAG6,upstream_gene_variant,,ENST00000462875,;	A	ENST00000375964	Transcript	synonymous_variant	1937/3815	1623/3399	541/1132	V	gtG/gtT		1		-1	BAG6	HGNC	HGNC:13919	protein_coding	YES	CCDS47403.1	ENSP00000365131	P46379		UPI000047029D	NM_004639.3			13/25		hmmpanther:PTHR15204:SF0,hmmpanther:PTHR15204																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	31643933	31643933	C	A	1	0	0	0	0	0	0	0	1	1449	813	29	2		2	BAG6	6	31643933	Silent	SNP	C	C3N-00551_TP	3776659	31643933	139162046	235	16914											
C6orf10	0	.	GRCh38	chr6	32293484	32293484	+	Frame_Shift_Del	DEL	G	G	-																															tgactccctcttctttacctGggcttcctgtccctttgaga																								novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1189delC	p.Gln397ArgfsTer2	p.Q397Rfs*2	ENST00000447241	23/23	240	200	40	299	299	0	sindel-varindel-pindel	C6orf10,frameshift_variant,p.Gln397ArgfsTer2,ENST00000612031,;C6orf10,frameshift_variant,p.Gln396ArgfsTer2,ENST00000375015,;C6orf10,frameshift_variant,p.Gln395ArgfsTer2,ENST00000533191,NM_001286474.1;C6orf10,frameshift_variant,p.Gln397ArgfsTer2,ENST00000447241,NM_006781.4;C6orf10,frameshift_variant,p.Gln395ArgfsTer2,ENST00000375007,;C6orf10,frameshift_variant,p.Gln381ArgfsTer2,ENST00000527965,NM_001286475.1;C6orf10,frameshift_variant,p.Gln392ArgfsTer2,ENST00000617061,;C6orf10,frameshift_variant,p.Gln388ArgfsTer2,ENST00000442822,;XXbac-BPG154L12.5,intron_variant,,ENST00000611838,;	-	ENST00000447241	Transcript	frameshift_variant	1362/2148	1189/1692	397/563	Q/X	Cag/ag		1		-1	C6orf10	HGNC	HGNC:13922	protein_coding	YES	CCDS34422.1	ENSP00000415517	Q5SRN2		UPI0000470279	NM_006781.4			23/23		hmmpanther:PTHR14368																	HIGH		deletion	5			1										PASS		.	.												-	7	5	53	32293484	32293484	G	-	1	0	1	0	1	0	0	0	0	2113	1357	47	0		0	C6orf10	6	32293484	Frame_Shift_Del	DEL	G	C3N-00551_TP	649551	32293484	138512495	236	16915											
FGD2	0	.	GRCh38	chr6	37027576	37027576	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgtctatgctgcccctcagGtaaggccaccacctgcccgc	7	8	9	17	1	2	0	1	0	1	0	2	0	2	0	6	2	3	2	6	2	2	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1752+1G>T		p.X584_splice	ENST00000274963		123	113	10	115	115	0	strelka-mutect	FGD2,splice_donor_variant,,ENST00000274963,NM_173558.3;FGD2,splice_donor_variant,,ENST00000493635,;FGD2,splice_donor_variant,,ENST00000494343,;FGD2,splice_donor_variant,,ENST00000464083,;FGD2,splice_donor_variant,,ENST00000373535,;FGD2,non_coding_transcript_exon_variant,,ENST00000487920,;	T	ENST00000274963	Transcript	splice_donor_variant	-/3046	1752/1968	584/655				1		1	FGD2	HGNC	HGNC:3664	protein_coding	YES	CCDS4829.1	ENSP00000274963	Q7Z6J4		UPI00001A9477	NM_173558.3				15/15																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	53	37027576	37027576	G	T	1	0	0	0	0	0	0	1	0	5697	1275	44	2		2	FGD2	6	37027576	Splice_Site	SNP	G	C3N-00551_TP	4734092	37027576	133778403	237	16916											
LRFN2	0	.	GRCh38	chr6	40392092	40392092	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgaggaggactgtagcCgcccggcacgacccctcccg	6	5	12	18	5	0	0	0	0	0	0	2	4	2	2	6	3	1	2	6	3	1	2	rs755101920		C3N-00551_TP	C3N-00551_NB	C	C																c.2221G>T	p.Gly741Cys	p.G741C	ENST00000338305	3/3	100	93	7	144	144	0	strelka-varscan-mutect	LRFN2,missense_variant,p.Gly741Cys,ENST00000338305,NM_020737.2;	A	ENST00000338305	Transcript	missense_variant	2764/3270	2221/2370	741/789	G/C	Ggc/Tgc	rs755101920,COSM5615686	1		-1	LRFN2	HGNC	HGNC:21226	protein_coding	YES	CCDS34443.1	ENSP00000345985	Q9ULH4		UPI00001C1E47	NM_020737.2	tolerated(0.12)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs755101920	.												A	3	1	53	40392092	40392092	C	A	1	0	0	0	0	1	0	0	0	8832	652	23	1		1	LRFN2	6	40392092	Missense_Mutation	SNP	C	C3N-00551_TP	3364516	40392092	130413887	238	16917											
PGK2	0	.	GRCh38	chr6	49786176	49786176	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatactcctaacggccCattccaaacaattagccttg	13	11	4	13	1	1	0	1	0	0	0	3	0	3	0	4	1	4	0	4	1	6	6	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1012G>T	p.Gly338Trp	p.G338W	ENST00000304801	1/1	372	353	19	373	373	0	strelka-varscan-mutect	PGK2,missense_variant,p.Gly338Trp,ENST00000304801,NM_138733.4;	A	ENST00000304801	Transcript	missense_variant	1132/1657	1012/1254	338/417	G/W	Ggg/Tgg		1		-1	PGK2	HGNC	HGNC:8898	protein_coding	YES	CCDS4930.1	ENSP00000305995	P07205	A0A140VJR3	UPI0000001C72	NM_138733.4	deleterious(0)		1/1		Gene3D:3.40.50.1270,HAMAP:MF_00145,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,Prints_domain:PR00477,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF10,Superfamily_domains:SSF53748																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	53	49786176	49786176	C	A	1	0	0	0	0	1	0	0	0	11880	594	21	2		2	PGK2	6	49786176	Missense_Mutation	SNP	C	C3N-00551_TP	9394084	49786176	121019803	239	16918											
PKHD1	0	.	GRCh38	chr6	52050262	52050262	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgattccaccagattgcccCctgggcgagccgttccagaa	8	8	10	15	2	0	3	0	1	0	2	2	4	2	3	6	1	2	1	6	1	1	3			C3N-00551_TP	C3N-00551_NB	C	C																c.2174G>T	p.Gly725Val	p.G725V	ENST00000371117	22/67	590	500	90	615	614	1	strelka-varscan-mutect	PKHD1,missense_variant,p.Gly725Val,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Gly725Val,ENST00000340994,NM_170724.2;	A	ENST00000371117	Transcript	missense_variant	2450/16282	2174/12225	725/4074	G/V	gGg/gTg	COSM1144239,COSM597158	1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3	deleterious(0)		22/67													1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1410841686	.												A	3	1	53	52050262	52050262	C	A	1	0	0	0	0	1	0	0	0	12067	623	22	2		2	PKHD1	6	52050262	Missense_Mutation	SNP	C	C3N-00551_TP	2264086	52050262	118755717	240	16919											
DST	0	.	GRCh38	chr6	56611590	56611590	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggttgatatttcctcacTggaaatctgtaaggtaaaga	12	14	9	6	0	2	2	1	1	1	1	3	3	3	3	1	3	0	3	1	3	5	6	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.4552A>T	p.Ser1518Cys	p.S1518C	ENST00000312431	35/95	141	119	22	245	245	0	strelka-mutect	DST,missense_variant,p.Ser1478Cys,ENST00000361203,;DST,missense_variant,p.Ser1478Cys,ENST00000421834,NM_183380.3;DST,missense_variant,p.Ser1518Cys,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,missense_variant,p.Ser1478Cys,ENST00000370788,;DST,missense_variant,p.Ser1152Cys,ENST00000244364,NM_015548.4;DST,missense_variant,p.Ser1152Cys,ENST00000439203,;DST,downstream_gene_variant,,ENST00000370765,NM_001723.5;DST,downstream_gene_variant,,ENST00000520645,;	A	ENST00000312431	Transcript	missense_variant	4678/17756	4552/16614	1518/5537	S/C	Agt/Tgt		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1	tolerated(0.05)		35/95		hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	53	56611590	56611590	T	A	1	0	0	0	0	1	0	0	0	4604	1580	55	4		4	DST	6	56611590	Missense_Mutation	SNP	T	C3N-00551_TP	4561328	56611590	114194389	241	16920											
OOEP	0	.	GRCh38	chr6	73369305	73369305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacggtgatttcgactaGgttccctgagtccactatgt	10	12	10	9	2	0	2	0	2	0	0	3	4	2	2	2	2	1	1	2	2	4	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.271C>A	p.Leu91Ile	p.L91I	ENST00000370359	2/3	155	141	14	176	176	0	strelka-varscan-mutect	OOEP,missense_variant,p.Leu36Ile,ENST00000370363,;OOEP,missense_variant,p.Leu36Ile,ENST00000441145,;OOEP,missense_variant,p.Leu91Ile,ENST00000370359,NM_001080507.2;OOEP-AS1,upstream_gene_variant,,ENST00000445350,;RPL39P3,downstream_gene_variant,,ENST00000424573,;	T	ENST00000370359	Transcript	missense_variant	271/478	271/450	91/149	L/I	Cta/Ata		1		-1	OOEP	HGNC	HGNC:21382	protein_coding	YES	CCDS47451.1	ENSP00000359384	A6NGQ2		UPI00001D8132	NM_001080507.2	deleterious(0.02)		2/3		hmmpanther:PTHR19447:SF14,hmmpanther:PTHR19447,Pfam_domain:PF16005																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	73369305	73369305	G	T	1	0	0	0	0	1	0	0	0	10946	991	35	2		2	OOEP	6	73369305	Missense_Mutation	SNP	G	C3N-00551_TP	16757715	73369305	97436674	242	16921											
CD109	0	.	GRCh38	chr6	73787299	73787299	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcaaatgaaataaatgcCacaggccaccagcagaccct	16	6	6	13	0	1	2	1	1	0	1	1	2	1	2	4	1	2	1	4	1	4	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2403C>A	p.=	p.A801A	ENST00000287097	21/33	241	208	33	358	357	1	strelka-varscan-mutect	CD109,synonymous_variant,p.=,ENST00000437994,NM_001159587.2;CD109,synonymous_variant,p.=,ENST00000422508,NM_001159588.2;CD109,synonymous_variant,p.=,ENST00000287097,NM_133493.4;	A	ENST00000287097	Transcript	synonymous_variant	2515/9130	2403/4338	801/1445	A	gcC/gcA		1		1	CD109	HGNC	HGNC:21685	protein_coding	YES	CCDS4982.1	ENSP00000287097	Q6YHK3		UPI000013DE92	NM_133493.4			21/33		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF80																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	73787299	73787299	C	A	1	0	0	0	0	0	0	0	1	2666	581	21	2		2	CD109	6	73787299	Silent	SNP	C	C3N-00551_TP	417994	73787299	97018680	243	16922											
CGA	0	.	GRCh38	chr6	87085795	87085795	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtactgcagtggcacgcCgtgtggttctccactttgaa	8	11	11	11	2	1	1	0	1	1	0	2	1	1	1	2	2	2	4	2	2	3	3	rs145923049		C3N-00551_TP	C3N-00551_NB	C	C																c.405G>C	p.=	p.T135T	ENST00000610310	5/5	235	211	24	362	362	0	strelka-varscan-mutect	CGA,synonymous_variant,p.=,ENST00000627148,NM_000735.3;CGA,synonymous_variant,p.=,ENST00000369582,;CGA,synonymous_variant,p.=,ENST00000610310,NM_001252383.1;CGA,3_prime_UTR_variant,,ENST00000630630,;CGA,downstream_gene_variant,,ENST00000625577,;RN7SKP209,downstream_gene_variant,,ENST00000516888,;CGA,downstream_gene_variant,,ENST00000627552,;	G	ENST00000610310	Transcript	synonymous_variant	504/615	405/444	135/147	T	acG/acC	rs145923049	1		-1	CGA	HGNC	HGNC:1885	protein_coding	YES	CCDS75492.1	ENSP00000482232		A0A087WYZ4	UPI00005AF4BC	NM_001252383.1			5/5		PROSITE_profiles:PS50277,hmmpanther:PTHR11509:SF0,hmmpanther:PTHR11509,PROSITE_patterns:PS00780,Gene3D:2.10.90.10,Pfam_domain:PF00236,SMART_domains:SM00067,Superfamily_domains:SSF57501,Prints_domain:PR00274																	LOW	1	SNV	3			1										PASS		rs145923049	.												G	2	3	53	87085795	87085795	C	G	1	0	0	0	0	0	0	0	1	3053	666	23	4		4	CGA	6	87085795	Silent	SNP	C	C3N-00551_TP	13298496	87085795	83720184	244	16923											
BACH2	0	.	GRCh38	chr6	89950925	89950925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctggcccacgtggggcTgtccataattccctgtgaaa	7	11	10	13	1	1	1	0	1	1	0	3	1	3	1	4	3	0	1	4	3	2	3	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1181A>G	p.Gln394Arg	p.Q394R	ENST00000257749	7/9	27	21	6	34	34	0	strelka-varscan-mutect	BACH2,missense_variant,p.Gln394Arg,ENST00000257749,NM_021813.3;BACH2,missense_variant,p.Gln394Arg,ENST00000537989,NM_001170794.1;BACH2,missense_variant,p.Gln394Arg,ENST00000343122,;RP3-512E2.2,intron_variant,,ENST00000445838,;RP3-512E2.2,intron_variant,,ENST00000413986,;	C	ENST00000257749	Transcript	missense_variant	1889/9113	1181/2526	394/841	Q/R	cAg/cGg		1		-1	BACH2	HGNC	HGNC:14078	protein_coding	YES	CCDS5026.1	ENSP00000257749	Q9BYV9		UPI000004F8AD	NM_021813.3	tolerated(0.54)		7/9																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	89950925	89950925	T	C	1	0	0	0	0	1	0	0	0	1442	1580	55	5		5	BACH2	6	89950925	Missense_Mutation	SNP	T	C3N-00551_TP	2865130	89950925	80855054	245	16924											
LAMA4	0	.	GRCh38	chr6	112133427	112133427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagtccttcttttggaaCtggaagcccttcatgcatcc	8	14	8	11	0	2	1	1	1	1	0	4	3	4	3	3	2	3	1	3	2	3	5	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.3618G>T	p.Gln1206His	p.Q1206H	ENST00000230538	27/39	437	395	42	463	463	0	strelka-varscan-mutect	LAMA4,missense_variant,p.Gln1206His,ENST00000230538,NM_001105206.2;LAMA4,missense_variant,p.Gln1199His,ENST00000522006,NM_001105207.2,NM_002290.4;LAMA4,missense_variant,p.Gln1199His,ENST00000389463,;LAMA4,missense_variant,p.Gln1199His,ENST00000424408,;LAMA4,upstream_gene_variant,,ENST00000604740,;LAMA4,downstream_gene_variant,,ENST00000519245,;LAMA4,upstream_gene_variant,,ENST00000521693,;	A	ENST00000230538	Transcript	missense_variant	4016/6547	3618/5472	1206/1823	Q/H	caG/caT		1		-1	LAMA4	HGNC	HGNC:6484	protein_coding	YES	CCDS43491.1	ENSP00000230538		A0A0A0MQS9	UPI000153D541	NM_001105206.2	deleterious(0)		27/39		PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF277,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	112133427	112133427	C	A	1	0	0	0	0	1	0	0	0	8512	564	20	2		2	LAMA4	6	112133427	Missense_Mutation	SNP	C	C3N-00551_TP	22182502	112133427	58672552	246	16925											
TRDN	0	.	GRCh38	chr6	123571071	123571071	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcttcagcacttttccGggggatttgggcacagatcc	6	12	11	12	1	2	1	1	0	1	1	5	2	5	2	3	3	1	2	3	3	0	4	rs145992727		C3N-00551_TP	C3N-00551_NB	G	G																c.84C>A	p.=	p.P28P	ENST00000334268	2/41	266	251	15	277	277	0	strelka-varscan-mutect	TRDN,synonymous_variant,p.=,ENST00000334268,NM_006073.3;TRDN,synonymous_variant,p.=,ENST00000628709,NM_001256020.1;TRDN,synonymous_variant,p.=,ENST00000542443,NM_001256022.1;TRDN,synonymous_variant,p.=,ENST00000546248,NM_001256021.1;	T	ENST00000334268	Transcript	synonymous_variant	402/4770	84/2190	28/729	P	ccC/ccA	rs145992727	1		-1	TRDN	HGNC	HGNC:12261	protein_coding	YES	CCDS55053.1	ENSP00000333984	Q13061		UPI0000D820CC	NM_006073.3			2/41		hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0																	LOW	1	SNV	1			1										PASS		rs145992727	.												T	2	4	53	123571071	123571071	G	T	1	0	0	0	0	0	0	0	1	16957	1103	39	1		1	TRDN	6	123571071	Silent	SNP	G	C3N-00551_TP	11437644	123571071	47234908	247	16926											
HEY2	0	.	GRCh38	chr6	125759333	125759333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatcatccgctccaccCgcatcactgggccgccgcct	6	6	7	22	4	2	0	2	0	0	0	4	0	4	0	8	1	0	2	8	1	0	0	rs541948433		C3N-00551_TP	C3N-00551_NB	C	C																c.545C>T	p.Pro182Leu	p.P182L	ENST00000368364	5/5	72	62	10	118	118	0	strelka-varscan-mutect	HEY2,missense_variant,p.Pro182Leu,ENST00000368364,NM_012259.2;HEY2,missense_variant,p.Pro136Leu,ENST00000368365,;	T	ENST00000368364	Transcript	missense_variant	742/2678	545/1014	182/337	P/L	cCg/cTg	rs541948433	1		1	HEY2	HGNC	HGNC:4881	protein_coding	YES	CCDS5131.1	ENSP00000357348	Q9UBP5		UPI0000037AFE	NM_012259.2	tolerated(0.24)		5/5		hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF88,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs541948433	.												T	3	4	53	125759333	125759333	C	T	1	0	0	0	0	1	0	0	0	6963	652	23	1		1	HEY2	6	125759333	Missense_Mutation	SNP	C	C3N-00551_TP	2188262	125759333	45046646	248	16927											
VNN1	0	.	GRCh38	chr6	132692356	132692356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctgacaaactgtataatttCctgcaactcctgtgagcttc	10	14	6	11	0	1	2	0	2	1	0	4	2	3	2	2	0	4	3	2	0	4	4			C3N-00551_TP	C3N-00551_NB	C	C																c.1055G>A	p.Gly352Glu	p.G352E	ENST00000367928	5/7	166	156	10	205	205	0	strelka-varscan-mutect	VNN1,missense_variant,p.Gly352Glu,ENST00000367928,NM_004666.2;	T	ENST00000367928	Transcript	missense_variant	1069/3106	1055/1542	352/513	G/E	gGa/gAa	COSM3620747	1		-1	VNN1	HGNC	HGNC:12705	protein_coding	YES	CCDS5159.1	ENSP00000356905	O95497		UPI000013C91E	NM_004666.2	deleterious(0.02)		5/7		hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF16,PIRSF_domain:PIRSF011861											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	53	132692356	132692356	C	T	1	0	0	0	0	1	0	0	0	17729	855	30	3		3	VNN1	6	132692356	Missense_Mutation	SNP	C	C3N-00551_TP	6933023	132692356	38113623	249	16928											
SF3B5	0	.	GRCh38	chr6	144095427	144095427	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcccacttggtggtgtcgGcgtggcccgtgccgatgtac	4	10	14	13	4	0	0	0	0	0	0	2	1	1	0	3	4	2	1	3	4	1	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.71C>G	p.Ala24Gly	p.A24G	ENST00000367569	1/1	409	356	53	429	429	0	strelka-mutect	SF3B5,missense_variant,p.Ala24Gly,ENST00000367569,NM_031287.2;	C	ENST00000367569	Transcript	missense_variant	147/693	71/261	24/86	A/G	gCc/gGc		1		-1	SF3B5	HGNC	HGNC:21083	protein_coding	YES	CCDS5204.1	ENSP00000356541	Q9BWJ5		UPI0000135473	NM_031287.2	deleterious(0.03)		1/1		hmmpanther:PTHR20978:SF0,hmmpanther:PTHR20978,PIRSF_domain:PIRSF037010,Pfam_domain:PF07189																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	53	144095427	144095427	G	C	1	0	0	0	0	1	0	0	0	14432	1203	42	4		4	SF3B5	6	144095427	Missense_Mutation	SNP	G	C3N-00551_TP	11403071	144095427	26710552	250	16929											
SYNE1	0	.	GRCh38	chr6	152458821	152458821	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagaactgtgataatttcaTtgattttcccaagtgagtca	13	14	7	7	0	2	4	2	3	0	1	3	4	3	4	1	0	1	0	1	0	4	5	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.2504A>T	p.Asn835Ile	p.N835I	ENST00000367255	22/146	253	226	27	377	377	0	strelka-varscan-mutect	SYNE1,missense_variant,p.Asn835Ile,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Asn842Ile,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Asn825Ile,ENST00000341594,;SYNE1,missense_variant,p.Asn825Ile,ENST00000367248,;SYNE1,missense_variant,p.Asn835Ile,ENST00000367253,;SYNE1,missense_variant,p.Asn835Ile,ENST00000413186,;SYNE1,missense_variant,p.Asn402Ile,ENST00000495090,;SYNE1,downstream_gene_variant,,ENST00000466159,;SYNE1,non_coding_transcript_exon_variant,,ENST00000535896,;SYNE1,downstream_gene_variant,,ENST00000481502,;SYNE1,downstream_gene_variant,,ENST00000498751,;SYNE1,3_prime_UTR_variant,,ENST00000474655,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	A	ENST00000367255	Transcript	missense_variant	3106/27748	2504/26394	835/8797	N/I	aAt/aTt		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			22/146																			MODERATE	1	SNV	1			1										PASS		rs1412442790	.												A	3	1	53	152458821	152458821	T	A	1	0	0	0	0	1	0	0	0	15837	1493	52	4		4	SYNE1	6	152458821	Missense_Mutation	SNP	T	C3N-00551_TP	8363394	152458821	18347158	251	16930											
TULP4	0	.	GRCh38	chr6	158502557	158502557	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acccccgtatcctgaaattgCcagccagctggcccaggggc	8	6	11	16	1	0	1	0	1	0	0	1	1	1	1	6	3	3	2	6	3	2	2	rs776454064		C3N-00551_TP	C3N-00551_NB	C	C																c.2894C>G	p.Ala965Gly	p.A965G	ENST00000367097	13/14	131	123	8	149	149	0	strelka-varscan-mutect	TULP4,missense_variant,p.Ala965Gly,ENST00000367097,NM_020245.4;TULP4,intron_variant,,ENST00000367094,NM_001007466.2;TULP4,downstream_gene_variant,,ENST00000613390,;	G	ENST00000367097	Transcript	missense_variant	4423/11295	2894/4632	965/1543	A/G	gCc/gGc	rs776454064	1		1	TULP4	HGNC	HGNC:15530	protein_coding	YES	CCDS34561.1	ENSP00000356064	Q9NRJ4		UPI000013CD76	NM_020245.4	deleterious_low_confidence(0.03)		13/14																			MODERATE	1	SNV	1			1										PASS		rs776454064	.												G	3	3	53	158502557	158502557	C	G	1	0	0	0	0	1	0	0	0	17286	739	26	4		4	TULP4	6	158502557	Missense_Mutation	SNP	C	C3N-00551_TP	6043736	158502557	12303422	252	16931											
FNDC1	0	.	GRCh38	chr6	159233632	159233632	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcactgacccaggccgggcgGccccgccccacgtcgcaggg	5	3	14	19	5	1	1	1	1	0	0	2	1	1	1	6	4	0	1	6	4	0	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.3120G>T	p.=	p.R1040R	ENST00000297267	11/23	143	120	23	154	154	0	strelka-varscan-mutect	FNDC1,synonymous_variant,p.=,ENST00000297267,NM_032532.2;FNDC1,synonymous_variant,p.=,ENST00000329629,;	T	ENST00000297267	Transcript	synonymous_variant	3320/6552	3120/5685	1040/1894	R	cgG/cgT		1		1	FNDC1	HGNC	HGNC:21184	protein_coding	YES	CCDS47512.1	ENSP00000297267	Q4ZHG4		UPI0000579B80	NM_032532.2			11/23		hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF8																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	159233632	159233632	G	T	1	0	0	0	0	0	0	0	1	5824	1190	42	2		2	FNDC1	6	159233632	Silent	SNP	G	C3N-00551_TP	731075	159233632	11572347	253	16932											
LPA	0	.	GRCh38	chr6	160548512	160548512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggccctaggcttggaacctgGatgacagtcggaggagcgac	9	6	16	10	2	0	1	0	1	0	0	1	6	0	5	2	6	2	1	2	6	2	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.5121C>G	p.Ile1707Met	p.I1707M	ENST00000316300	31/39	306	255	51	336	336	0	strelka-varscan-mutect	LPA,missense_variant,p.Ile1707Met,ENST00000316300,NM_005577.2;	C	ENST00000316300	Transcript	missense_variant	5166/6414	5121/6123	1707/2040	I/M	atC/atG		1		-1	LPA	HGNC	HGNC:6667	protein_coding	YES	CCDS43523.1	ENSP00000321334	P08519		UPI0000458AC9	NM_005577.2	tolerated(0.11)		31/39		hmmpanther:PTHR24261,hmmpanther:PTHR24261:SF2,Superfamily_domains:SSF57440,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	160548512	160548512	G	C	1	0	0	0	0	1	0	0	0	8806	1164	41	4		4	LPA	6	160548512	Missense_Mutation	SNP	G	C3N-00551_TP	1314880	160548512	10257467	254	16933											
RPS6KA2	0	.	GRCh38	chr6	166538688	166538688	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccataggatccttgtcCtaaaaccttcagcagctcaa	11	12	5	13	0	2	0	2	0	0	0	5	1	5	1	4	1	3	2	4	1	4	5	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.220G>T	p.Gly74Ter	p.G74*	ENST00000503859	3/22	115	89	26	125	125	0	strelka-varscan-mutect	RPS6KA2,stop_gained,p.Gly91Ter,ENST00000510118,NM_001318936.1;RPS6KA2,stop_gained,p.Gly66Ter,ENST00000265678,NM_001318938.1,NM_001318937.1,NM_021135.4;RPS6KA2,stop_gained,p.Gly74Ter,ENST00000503859,NM_001006932.1;RPS6KA2,stop_gained,p.Gly50Ter,ENST00000507371,;RPS6KA2,stop_gained,p.Gly91Ter,ENST00000506565,;RPS6KA2,5_prime_UTR_variant,,ENST00000481261,;RPS6KA2,5_prime_UTR_variant,,ENST00000405189,;RPS6KA2,5_prime_UTR_variant,,ENST00000511034,;RPS6KA2,5_prime_UTR_variant,,ENST00000507350,;RPS6KA2,5_prime_UTR_variant,,ENST00000512860,;	A	ENST00000503859	Transcript	stop_gained	601/4137	220/2226	74/741	G/*	Gga/Tga		1		-1	RPS6KA2	HGNC	HGNC:10431	protein_coding	YES	CCDS34570.1	ENSP00000427015	Q15349		UPI000020D48C	NM_001006932.1			3/22		PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF25,PROSITE_patterns:PS00107,PIRSF_domain:PIRSF000606,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	53	166538688	166538688	C	A	1	0	0	0	0	0	1	0	0	13906	690	24	2		2	RPS6KA2	6	166538688	Nonsense_Mutation	SNP	C	C3N-00551_TP	5990176	166538688	4267291	255	16934											
FAM120B	0	.	GRCh38	chr6	170330472	170330472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagcacctgcctagctGtcaaggagtggtttgtgtat	8	12	11	10	0	2	0	2	0	0	0	2	1	2	1	3	2	3	4	3	2	3	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2008G>T	p.Val670Phe	p.V670F	ENST00000537664	4/11	158	141	17	224	223	1	strelka-varscan-mutect	FAM120B,missense_variant,p.Val647Phe,ENST00000476287,NM_032448.2;FAM120B,missense_variant,p.Val659Phe,ENST00000630384,NM_001286379.1;FAM120B,missense_variant,p.Val670Phe,ENST00000537664,NM_001286380.1;FAM120B,5_prime_UTR_variant,,ENST00000625626,NM_001286381.1;MIR4644,upstream_gene_variant,,ENST00000579929,;	T	ENST00000537664	Transcript	missense_variant	2093/3212	2008/2802	670/933	V/F	Gtc/Ttc		1		1	FAM120B	HGNC	HGNC:21109	protein_coding	YES	CCDS75555.1	ENSP00000440125		F5GY05	UPI00020654A4	NM_001286380.1	deleterious(0)		4/11		hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF17																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	53	170330472	170330472	G	T	1	0	0	0	0	1	0	0	0	5274	1377	48	2		2	FAM120B	6	170330472	Missense_Mutation	SNP	G	C3N-00551_TP	3791784	170330472	475507	256	16935											
MAD1L1	0	.	GRCh38	chr7	2014505	2014505	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgcggcccctcacctcCatctcggcgctgtggctgtg	2	8	12	19	5	2	0	1	0	1	0	4	0	3	0	5	3	0	2	5	3	0	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1356G>T	p.Met452Ile	p.M452I	ENST00000406869	13/19	56	46	10	46	46	0	strelka-varscan-mutect	MAD1L1,missense_variant,p.Met452Ile,ENST00000406869,;MAD1L1,missense_variant,p.Met452Ile,ENST00000399654,NM_001013836.1,NM_003550.2,NM_001013837.1,NM_001304523.1;MAD1L1,missense_variant,p.Met452Ile,ENST00000265854,;MAD1L1,missense_variant,p.Met360Ile,ENST00000402746,NM_001304524.1;MAD1L1,missense_variant,p.Met119Ile,ENST00000438959,;MAD1L1,missense_variant,p.Met42Ile,ENST00000444373,;MAD1L1,downstream_gene_variant,,ENST00000421113,;	A	ENST00000406869	Transcript	missense_variant	1914/2991	1356/2157	452/718	M/I	atG/atT		1		-1	MAD1L1	HGNC	HGNC:6762	protein_coding	YES	CCDS43539.1	ENSP00000385334	Q9Y6D9		UPI0000072C4D		tolerated(0.14)		13/19		hmmpanther:PTHR23168:SF0,hmmpanther:PTHR23168,Pfam_domain:PF05557,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	2014505	2014505	C	A	1	0	0	0	0	1	0	0	0	9063	608	21	2		2	MAD1L1	7	2014505	Missense_Mutation	SNP	C	C3N-00551_TP		2014505	157331468	257	16936											
CARD11	0	.	GRCh38	chr7	2934537	2934537	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgactcctccgaggtGgaagaatcgtcagcttcttg	8	11	12	10	2	3	2	2	1	1	1	6	4	5	3	2	3	1	1	2	3	2	2			C3N-00551_TP	C3N-00551_NB	G	G																c.1434C>A	p.=	p.S478S	ENST00000396946	10/25	202	190	12	206	206	0	strelka-mutect	CARD11,synonymous_variant,p.=,ENST00000396946,NM_001324281.1,NM_032415.5;CARD11,upstream_gene_variant,,ENST00000355508,;	T	ENST00000396946	Transcript	synonymous_variant	1838/4366	1434/3465	478/1154	S	tcC/tcA	COSM5607998	1		-1	CARD11	HGNC	HGNC:16393	protein_coding	YES	CCDS5336.2	ENSP00000380150	Q9BXL7	A0A024R854	UPI00003FED38	NM_001324281.1,NM_032415.5			10/25		Low_complexity_(Seg):seg,hmmpanther:PTHR14559:SF4,hmmpanther:PTHR14559											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	53	2934537	2934537	G	T	1	0	0	0	0	0	0	0	1	2340	1335	47	2		2	CARD11	7	2934537	Silent	SNP	G	C3N-00551_TP	920032	2934537	156411436	258	16937											
CARD11	0	.	GRCh38	chr7	2947699	2947699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggttgatatagcggctgagCatgtgccggttacactccac	8	10	13	10	2	0	2	0	2	0	0	1	2	1	2	2	3	4	4	2	3	3	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.96G>T	p.Met32Ile	p.M32I	ENST00000396946	3/25	328	291	37	574	574	0	strelka-varscan-mutect	CARD11,missense_variant,p.Met32Ile,ENST00000396946,NM_001324281.1,NM_032415.5;CARD11,missense_variant,p.Met32Ile,ENST00000356408,;AC004906.3,downstream_gene_variant,,ENST00000423194,;	A	ENST00000396946	Transcript	missense_variant	500/4366	96/3465	32/1154	M/I	atG/atT		1		-1	CARD11	HGNC	HGNC:16393	protein_coding	YES	CCDS5336.2	ENSP00000380150	Q9BXL7	A0A024R854	UPI00003FED38	NM_001324281.1,NM_032415.5	tolerated(0.21)		3/25		PROSITE_profiles:PS50209,hmmpanther:PTHR14559:SF4,hmmpanther:PTHR14559,Pfam_domain:PF00619,Gene3D:1.10.533.10,Superfamily_domains:SSF47986																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	2947699	2947699	C	A	1	0	0	0	0	1	0	0	0	2340	710	25	2		2	CARD11	7	2947699	Missense_Mutation	SNP	C	C3N-00551_TP	13162	2947699	156398274	259	16938											
VWDE	0	.	GRCh38	chr7	12389282	12389282	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaagctgtcaattgcttgAtctccccaggagatggcagt	10	10	10	11	0	2	2	1	1	1	1	3	3	2	2	2	2	2	3	2	2	2	2	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.320T>A	p.Ile107Asn	p.I107N	ENST00000275358	3/29	205	183	22	209	209	0	strelka-varscan-mutect	VWDE,missense_variant,p.Ile107Asn,ENST00000275358,NM_001135924.1;VWDE,5_prime_UTR_variant,,ENST00000614403,;VWDE,missense_variant,p.Ile107Asn,ENST00000452576,;VWDE,missense_variant,p.Ile107Asn,ENST00000521169,;VWDE,missense_variant,p.Ile107Asn,ENST00000326715,;	T	ENST00000275358	Transcript	missense_variant	509/5260	320/4773	107/1590	I/N	aTc/aAc		1		-1	VWDE	HGNC	HGNC:21897	protein_coding	YES	CCDS47544.1	ENSP00000275358	Q8N2E2		UPI00006C0B98	NM_001135924.1	deleterious(0)		3/29																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	53	12389282	12389282	A	T	1	0	0	0	0	1	0	0	0	17805	333	12	4		4	VWDE	7	12389282	Missense_Mutation	SNP	A	C3N-00551_TP	9441583	12389282	146956691	260	16939											
AGMO	0	.	GRCh38	chr7	15431023	15431023	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acccaggaagtatatatctgGaggacagactgtctcagtgc	12	9	11	9	0	2	1	1	0	2	1	3	4	2	4	1	3	1	1	1	3	4	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.495C>G	p.=	p.L165L	ENST00000342526	4/13	110	94	16	160	160	0	strelka-varscan-mutect	AGMO,synonymous_variant,p.=,ENST00000342526,NM_001004320.1;	C	ENST00000342526	Transcript	synonymous_variant	665/2475	495/1338	165/445	L	ctC/ctG		1		-1	AGMO	HGNC	HGNC:33784	protein_coding	YES	CCDS34604.1	ENSP00000341662	Q6ZNB7	X5D773	UPI0000050343	NM_001004320.1			4/13		Pfam_domain:PF04116,hmmpanther:PTHR21624,hmmpanther:PTHR21624:SF1																	LOW	1	SNV	1			1										PASS		rs1278779091	.												C	2	2	53	15431023	15431023	G	C	1	0	0	0	0	0	0	0	1	463	1161	41	4		4	AGMO	7	15431023	Silent	SNP	G	C3N-00551_TP	3041741	15431023	143914950	261	16940											
SP8	0	.	GRCh38	chr7	20785258	20785258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccctgcagcccgtccaCagaggtgtgcaccttggaga	8	7	13	13	1	0	2	0	0	0	2	1	4	1	2	4	2	4	2	4	2	0	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.559G>T	p.Val187Leu	p.V187L	ENST00000418710	2/2	152	124	28	208	207	1	strelka-varscan-mutect	SP8,missense_variant,p.Val145Leu,ENST00000617581,;SP8,missense_variant,p.Val169Leu,ENST00000361443,NM_198956.3;SP8,missense_variant,p.Val187Leu,ENST00000418710,NM_182700.5;	A	ENST00000418710	Transcript	missense_variant	647/1618	559/1527	187/508	V/L	Gtg/Ttg		1		-1	SP8	HGNC	HGNC:19196	protein_coding	YES	CCDS43555.1	ENSP00000408792	Q8IXZ3		UPI00001AADF2	NM_182700.5	tolerated(0.1)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	20785258	20785258	C	A	1	0	0	0	0	1	0	0	0	15296	478	17	2		2	SP8	7	20785258	Missense_Mutation	SNP	C	C3N-00551_TP	5354235	20785258	138560715	262	16941											
SKAP2	0	.	GRCh38	chr7	26738844	26738844	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttttactgagagcacaccaCcgtttctgccattcaaatcc	10	12	6	13	1	2	1	1	1	1	1	3	2	3	1	4	0	3	3	4	0	2	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.420G>T	p.=	p.R140R	ENST00000345317	6/13	203	188	15	229	229	0	strelka-varscan-mutect	SKAP2,synonymous_variant,p.=,ENST00000345317,NM_003930.4,NM_001303468.1;SKAP2,synonymous_variant,p.=,ENST00000432747,;SKAP2,non_coding_transcript_exon_variant,,ENST00000489977,;SKAP2,non_coding_transcript_exon_variant,,ENST00000495802,;SKAP2,downstream_gene_variant,,ENST00000490456,;SKAP2,non_coding_transcript_exon_variant,,ENST00000468712,;	A	ENST00000345317	Transcript	synonymous_variant	734/3998	420/1080	140/359	R	cgG/cgT		1		-1	SKAP2	HGNC	HGNC:15687	protein_coding	YES	CCDS5400.1	ENSP00000005587	O75563		UPI0000073C8C	NM_003930.4,NM_001303468.1			6/13		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR15129,hmmpanther:PTHR15129:SF2,SMART_domains:SM00233,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	26738844	26738844	C	A	1	0	0	0	0	0	0	0	1	14618	494	18	2		2	SKAP2	7	26738844	Silent	SNP	C	C3N-00551_TP	5953586	26738844	132607129	263	16942											
TRIL	0	.	GRCh38	chr7	28955773	28955773	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgactggaatcccgagaaGtcggcggacacgccggtgcc	8	5	15	13	6	0	1	0	0	0	1	2	5	1	3	3	4	2	0	3	4	2	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2274C>G	p.Asp758Glu	p.D758E	ENST00000539664	1/1	197	179	18	214	214	0	strelka-varscan-mutect	TRIL,missense_variant,p.Asp758Glu,ENST00000539664,NM_014817.3;AC005013.5,upstream_gene_variant,,ENST00000436594,;	C	ENST00000539664	Transcript	missense_variant	2520/4935	2274/2436	758/811	D/E	gaC/gaG		1		-1	TRIL	HGNC	HGNC:22200	protein_coding	YES	CCDS75573.1	ENSP00000479256	Q7L0X0		UPI00005C3DAC	NM_014817.3	tolerated(0.09)		1/1		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF263																	MODERATE		SNV				1										PASS		.	.												C	3	2	53	28955773	28955773	G	C	1	0	0	0	0	1	0	0	0	16974	1020	36	4		4	TRIL	7	28955773	Missense_Mutation	SNP	G	C3N-00551_TP	2216929	28955773	130390200	264	16943											
CCDC129	0	.	GRCh38	chr7	31577945	31577945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgtcagcatcctgccaaaCagagctgaagagaaagctgg	14	6	12	9	0	1	3	1	1	0	2	2	5	2	3	2	1	5	3	2	1	3	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.759C>A	p.Asn253Lys	p.N253K	ENST00000451887	8/15	100	90	10	113	113	0	strelka-varscan-mutect	CCDC129,missense_variant,p.Asn227Lys,ENST00000319386,;CCDC129,missense_variant,p.Asn237Lys,ENST00000615280,NM_001257967.1;CCDC129,missense_variant,p.Asn135Lys,ENST00000409210,;CCDC129,missense_variant,p.Asn253Lys,ENST00000451887,NM_001257968.1;CCDC129,missense_variant,p.Asn227Lys,ENST00000407970,NM_194300.3;CCDC129,downstream_gene_variant,,ENST00000454513,;CCDC129,downstream_gene_variant,,ENST00000409717,;CCDC129,downstream_gene_variant,,ENST00000456011,;CCDC129,downstream_gene_variant,,ENST00000482748,;	A	ENST00000451887	Transcript	missense_variant	853/3611	759/3189	253/1062	N/K	aaC/aaA		1		1	CCDC129	HGNC	HGNC:27363	protein_coding	YES	CCDS59050.1	ENSP00000395835	Q6ZRS4		UPI00020655D9	NM_001257968.1	tolerated(0.06)		8/15		hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF14,Pfam_domain:PF14722,SMART_domains:SM01257																	MODERATE	1	SNV	2			1										PASS		rs750949457	.												A	3	1	53	31577945	31577945	C	A	1	0	0	0	0	1	0	0	0	2456	477	17	2		2	CCDC129	7	31577945	Missense_Mutation	SNP	C	C3N-00551_TP	2622172	31577945	127768028	265	16944											
SUGCT	0	.	GRCh38	chr7	40860378	40860378	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcccccgctgctcgggCagcacacaacgcacatcctg	7	4	11	19	4	0	0	0	0	0	0	2	0	1	0	4	2	3	5	4	2	1	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1315C>G	p.Gln439Glu	p.Q439E	ENST00000628514	15/15	227	205	22	252	252	0	strelka-varscan	SUGCT,missense_variant,p.Gln413Glu,ENST00000335693,NM_001193313.1;SUGCT,missense_variant,p.Gln439Glu,ENST00000628514,NM_024728.2,NM_001193311.1;SUGCT,missense_variant,p.Gln365Glu,ENST00000401647,NM_001193312.1;SUGCT,non_coding_transcript_exon_variant,,ENST00000464028,;SUGCT,non_coding_transcript_exon_variant,,ENST00000460466,;	G	ENST00000628514	Transcript	missense_variant	1338/1591	1315/1416	439/471	Q/E	Cag/Gag		1		1	SUGCT	HGNC	HGNC:16001	protein_coding	YES	CCDS55104.1	ENSP00000486291	Q9HAC7		UPI000013EF6B	NM_024728.2,NM_001193311.1	tolerated(0.29)		15/15		Gene3D:3.40.50.10540,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF593,Superfamily_domains:SSF89796																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	40860378	40860378	C	G	1	0	0	0	0	1	0	0	0	15754	711	25	4		4	SUGCT	7	40860378	Missense_Mutation	SNP	C	C3N-00551_TP	9282433	40860378	118485595	266	16945											
INHBA	0	.	GRCh38	chr7	41690208	41690208	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcactgctcacaggcaatCcgaacgtccagggagctctt	9	8	11	13	2	2	0	1	0	1	0	4	2	4	1	2	3	3	4	2	3	2	1	rs750879883		C3N-00551_TP	C3N-00551_NB	C	C																c.723G>T	p.=	p.R241R	ENST00000242208	3/3	124	99	25	163	163	0	strelka-varscan	INHBA,synonymous_variant,p.=,ENST00000242208,NM_002192.2;INHBA,synonymous_variant,p.=,ENST00000638023,;INHBA,synonymous_variant,p.=,ENST00000442711,;INHBA-AS1,upstream_gene_variant,,ENST00000415848,;INHBA-AS1,upstream_gene_variant,,ENST00000422822,;INHBA-AS1,upstream_gene_variant,,ENST00000420821,;INHBA,non_coding_transcript_exon_variant,,ENST00000464515,;INHBA,intron_variant,,ENST00000416150,;	A	ENST00000242208	Transcript	synonymous_variant	970/6064	723/1281	241/426	R	cgG/cgT	rs750879883	1		-1	INHBA	HGNC	HGNC:6066	protein_coding	YES	CCDS5464.1	ENSP00000242208	P08476	A4D1W7	UPI000012D421	NM_002192.2			3/3		hmmpanther:PTHR11848:SF133,hmmpanther:PTHR11848,Pfam_domain:PF00688																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	41690208	41690208	C	A	1	0	0	0	0	0	0	0	1	7643	842	30	2		2	INHBA	7	41690208	Silent	SNP	C	C3N-00551_TP	829830	41690208	117655765	267	16946											
GLI3	0	.	GRCh38	chr7	41964935	41964935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggctggtagcccctgaCaactgccaagcttgacggct	9	8	11	13	1	0	2	0	2	0	0	0	2	0	2	3	3	4	4	3	3	3	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.4138G>T	p.Val1380Phe	p.V1380F	ENST00000395925	15/15	849	728	121	937	937	0	strelka-varscan	GLI3,missense_variant,p.Val1380Phe,ENST00000395925,NM_000168.5;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;	A	ENST00000395925	Transcript	missense_variant	4223/8208	4138/4743	1380/1580	V/F	Gtc/Ttc		1		-1	GLI3	HGNC	HGNC:4319	protein_coding	YES	CCDS5465.1	ENSP00000379258	P10071		UPI000020EE4C	NM_000168.5	tolerated_low_confidence(0.26)		15/15		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF5																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	53	41964935	41964935	C	A	1	0	0	0	0	1	0	0	0	6317	478	17	2		2	GLI3	7	41964935	Missense_Mutation	SNP	C	C3N-00551_TP	274727	41964935	117381038	268	16947											
TNS3	0	.	GRCh38	chr7	47415163	47415163	+	Frame_Shift_Del	DEL	T	T	-																															gaacaggggagaggcattcaTtttcaccgatccggacagga																								novel		C3N-00551_TP	C3N-00551_NB	T	T																c.517delA	p.Met173Ter	p.M173*	ENST00000311160	11/31	59	52	7	135	135	0	sindel-varindel-pindel	TNS3,frameshift_variant,p.Met173Ter,ENST00000311160,NM_022748.11;TNS3,frameshift_variant,p.Met276Ter,ENST00000457718,;TNS3,frameshift_variant,p.Met262Ter,ENST00000450444,;TNS3,frameshift_variant,p.Met173Ter,ENST00000442536,;TNS3,frameshift_variant,p.Met173Ter,ENST00000458317,;	-	ENST00000311160	Transcript	frameshift_variant	875/7618	517/4338	173/1445	M/X	Atg/tg		1		-1	TNS3	HGNC	HGNC:21616	protein_coding	YES	CCDS5506.2	ENSP00000312143	Q68CZ2		UPI00001AE9DA	NM_022748.11			11/31		hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF42,SMART_domains:SM00404,SMART_domains:SM01326,Superfamily_domains:SSF49562																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	53	47415163	47415163	T	-	1	0	1	0	1	0	0	0	0	16818	1493	52	0		0	TNS3	7	47415163	Frame_Shift_Del	DEL	T	C3N-00551_TP	5450228	47415163	111930810	269	16948											
ABCA13	0	.	GRCh38	chr7	48271787	48271787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taattctattaatattacagGgctttaaatttcacaaagca	16	15	4	6	0	2	0	1	0	1	0	2	0	2	0	0	1	2	2	0	1	8	9	rs765525995		C3N-00551_TP	C3N-00551_NB	G	G																c.2121G>T	p.Arg707Ser	p.R707S	ENST00000435803	17/62	51	46	5	44	44	0	strelka-varscan	ABCA13,missense_variant,p.Arg707Ser,ENST00000435803,NM_152701.4;ABCA13,splice_region_variant,,ENST00000417403,;	T	ENST00000435803	Transcript	missense_variant,splice_region_variant	2145/17184	2121/15177	707/5058	R/S	agG/agT	rs765525995	1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4	deleterious(0)		17/62																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	48271787	48271787	G	T	1	0	0	0	0	1	0	0	0	35	1246	43	2		2	ABCA13	7	48271787	Missense_Mutation	SNP	G	C3N-00551_TP	856624	48271787	111074186	270	16949											
RP11-15K19.2	0	.	GRCh38	chr7	55923654	55923654	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcgcgcagttggagctagagGaagaatgggtgatagaaaga	14	7	16	4	2	0	5	0	1	0	4	1	7	0	7	0	3	1	3	0	3	5	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.262G>C	p.Glu88Gln	p.E88Q	ENST00000429591	6/7	184	165	19	224	224	0	strelka-varscan	ZNF713,missense_variant,p.Glu88Gln,ENST00000429591,NM_182633.2;ZNF713,missense_variant,p.Glu75Gln,ENST00000633730,;RP11-15K19.2,missense_variant,p.Glu75Gln,ENST00000426595,;ZNF713,non_coding_transcript_exon_variant,,ENST00000482436,;ZNF713,non_coding_transcript_exon_variant,,ENST00000466630,;ZNF713,downstream_gene_variant,,ENST00000411863,;	C	ENST00000429591	Transcript	missense_variant	1050/4339	262/1332	88/443	E/Q	Gaa/Caa		1		1	ZNF713	HGNC	HGNC:22043	protein_coding	YES		ENSP00000416662		A0A0M3HEQ9	UPI0000140F17	NM_182633.2	deleterious(0.02)		6/7		PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF80,SMART_domains:SM00349																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	53	55923654	55923654	G	C	1	0	0	0	0	1	0	0	0	13715	1175	41	4		4	RP11-15K19.2	7	55923654	Missense_Mutation	SNP	G	C3N-00551_TP	7651867	55923654	103422319	271	16950											
ZNF107	0	.	GRCh38	chr7	64707806	64707806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctataaatgtgaagaatGtggaaaagcctttaatcaat	17	11	7	6	0	1	2	1	1	0	1	1	3	1	3	2	1	1	0	2	1	9	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1709G>T	p.Cys570Phe	p.C570F	ENST00000620827	4/4	107	80	27	121	121	0	strelka-varscan	ZNF107,missense_variant,p.Cys501Phe,ENST00000395391,;ZNF107,missense_variant,p.Cys501Phe,ENST00000423627,NM_016220.4;ZNF107,missense_variant,p.Cys570Phe,ENST00000620827,NM_001282359.1;ZNF107,missense_variant,p.Cys538Phe,ENST00000613690,NM_001282360.1;ZNF107,missense_variant,p.Cys501Phe,ENST00000344930,NM_001013746.2;ZNF107,downstream_gene_variant,,ENST00000360117,;	T	ENST00000620827	Transcript	missense_variant	1909/5685	1709/2559	570/852	C/F	tGt/tTt		1		1	ZNF107	HGNC	HGNC:12887	protein_coding	YES	CCDS75605.1	ENSP00000483720		A0A0B4J2G0	UPI0000049C52	NM_001282359.1	deleterious(0.01)		4/4		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF121,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	4			1										PASS		.	.												T	3	4	53	64707806	64707806	G	T	1	0	0	0	0	1	0	0	0	18295	1377	48	2		2	ZNF107	7	64707806	Missense_Mutation	SNP	G	C3N-00551_TP	8784152	64707806	94638167	272	16951											
HGF	0	.	GRCh38	chr7	81729777	81729777	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtcattcatagtattgtCagctattggcaaaaaacaac	15	12	7	7	0	3	0	3	0	0	0	3	0	3	0	0	1	3	3	0	1	7	6	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.868G>C	p.Asp290His	p.D290H	ENST00000222390	8/18	172	140	32	193	193	0	strelka-varscan	HGF,missense_variant,p.Asp290His,ENST00000222390,NM_000601.4;HGF,missense_variant,p.Asp285His,ENST00000457544,NM_001010932.1;	G	ENST00000222390	Transcript	missense_variant,splice_region_variant	1095/5989	868/2187	290/728	D/H	Gac/Cac		1		-1	HGF	HGNC	HGNC:4893	protein_coding	YES	CCDS5597.1	ENSP00000222390	P14210		UPI000000D92B	NM_000601.4	tolerated(0.18)		8/18		hmmpanther:PTHR24256:SF190,hmmpanther:PTHR24256,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152,Gene3D:2.40.20.10,SMART_domains:SM00130,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	81729777	81729777	C	G	1	0	0	0	0	1	0	0	0	6969	840	29	4		4	HGF	7	81729777	Missense_Mutation	SNP	C	C3N-00551_TP	17021971	81729777	77616196	273	16952											
CACNA2D1	0	.	GRCh38	chr7	82136675	82136675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagtagacaacttcattgCtctacaaaaaaaaaagaacg	19	9	6	7	1	2	2	1	0	1	2	2	2	2	2	0	0	4	3	0	0	10	5			C3N-00551_TP	C3N-00551_NB	C	C																c.356G>T	p.Ser119Ile	p.S119I	ENST00000356860	5/39	111	103	8	93	92	1	strelka-varscan	CACNA2D1,missense_variant,p.Ser119Ile,ENST00000356860,NM_000722.3;CACNA2D1,missense_variant,p.Ser119Ile,ENST00000356253,;CACNA2D1,missense_variant,p.Ser119Ile,ENST00000423588,NM_001302890.1;CACNA2D1,splice_region_variant,,ENST00000484706,;	A	ENST00000356860	Transcript	missense_variant,splice_region_variant	695/7563	356/3276	119/1091	S/I	aGc/aTc	COSM1092140,COSM4869602	1		-1	CACNA2D1	HGNC	HGNC:1399	protein_coding	YES	CCDS5598.1	ENSP00000349320	P54289		UPI00003674CD	NM_000722.3	deleterious(0.03)		5/39		Pfam_domain:PF08399,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	53	82136675	82136675	C	A	1	0	0	0	0	1	0	0	0	2236	811	28	2		2	CACNA2D1	7	82136675	Missense_Mutation	SNP	C	C3N-00551_TP	406898	82136675	77209298	274	16953											
SEMA3D	0	.	GRCh38	chr7	85065433	85065433	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcacaaaccattgagccAgtagtgctctgaaatgtcag	15	9	8	9	0	3	2	2	2	1	0	3	2	3	2	2	0	3	2	2	0	4	2	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.709T>C	p.Trp237Arg	p.W237R	ENST00000284136	6/17	207	150	57	204	203	1	strelka-varscan	SEMA3D,missense_variant,p.Trp237Arg,ENST00000284136,NM_152754.2;SEMA3D,missense_variant,p.Trp237Arg,ENST00000444867,;	G	ENST00000284136	Transcript	missense_variant	753/6265	709/2334	237/777	W/R	Tgg/Cgg		1		-1	SEMA3D	HGNC	HGNC:10726	protein_coding	YES	CCDS34676.1	ENSP00000284136	O95025		UPI0000135A66	NM_152754.2	deleterious(0)		6/17		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF36,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	85065433	85065433	A	G	1	0	0	0	0	1	0	0	0	14303	188	7	5		5	SEMA3D	7	85065433	Missense_Mutation	SNP	A	C3N-00551_TP	2928758	85065433	74280540	275	16954											
RUNDC3B	0	.	GRCh38	chr7	87710573	87710573	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttcttccttttagggtAgagcctggatcagagtagca	8	15	10	8	0	3	2	1	0	2	2	4	3	4	3	2	2	2	3	2	2	3	7	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.427A>T	p.Arg143Ter	p.R143*	ENST00000338056	5/12	149	102	47	180	180	0	strelka-varscan	RUNDC3B,stop_gained,p.Arg143Ter,ENST00000338056,NM_138290.2;RUNDC3B,stop_gained,p.Arg126Ter,ENST00000394654,NM_001134405.1;RUNDC3B,stop_gained,p.Arg126Ter,ENST00000493037,NM_001134406.1;ABCB1,intron_variant,,ENST00000265724,NM_000927.4;ABCB1,intron_variant,,ENST00000543898,;ABCB1,intron_variant,,ENST00000416177,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000496000,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000489461,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000466676,;ABCB1,intron_variant,,ENST00000476862,;RUNDC3B,non_coding_transcript_exon_variant,,ENST00000312373,;	T	ENST00000338056	Transcript	stop_gained	838/4099	427/1422	143/473	R/*	Aga/Tga		1		1	RUNDC3B	HGNC	HGNC:30286	protein_coding	YES	CCDS5609.1	ENSP00000337732	Q96NL0		UPI0000071425	NM_138290.2			5/12		PROSITE_profiles:PS50826,hmmpanther:PTHR22835:SF124,hmmpanther:PTHR22835,Pfam_domain:PF02759,SMART_domains:SM00593,Superfamily_domains:0052343																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	53	87710573	87710573	A	T	1	0	0	0	0	0	1	0	0	14006	434	15	4		4	RUNDC3B	7	87710573	Nonsense_Mutation	SNP	A	C3N-00551_TP	2645140	87710573	71635400	276	16955											
RUNDC3B	0	.	GRCh38	chr7	87807395	87807395	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgctaaagaataatgatTtaagatcgagacaagagtta	17	11	9	4	1	0	5	0	1	0	4	1	6	0	5	0	0	1	2	0	0	7	5	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1030T>C	p.=	p.L344L	ENST00000338056	10/12	182	172	10	197	197	0	strelka-varscan	RUNDC3B,synonymous_variant,p.=,ENST00000338056,NM_138290.2;RUNDC3B,synonymous_variant,p.=,ENST00000394654,NM_001134405.1;RUNDC3B,intron_variant,,ENST00000493037,NM_001134406.1;RUNDC3B,intron_variant,,ENST00000312373,;	C	ENST00000338056	Transcript	synonymous_variant	1441/4099	1030/1422	344/473	L	Tta/Cta		1		1	RUNDC3B	HGNC	HGNC:30286	protein_coding	YES	CCDS5609.1	ENSP00000337732	Q96NL0		UPI0000071425	NM_138290.2			10/12		hmmpanther:PTHR22835:SF124,hmmpanther:PTHR22835																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	53	87807395	87807395	T	C	1	0	0	0	0	0	0	0	1	14006	1838	64	5		5	RUNDC3B	7	87807395	Silent	SNP	T	C3N-00551_TP	96822	87807395	71538578	277	16956											
PEX1	0	.	GRCh38	chr7	92509399	92509399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttttcttcttttaccatagGatctagaaggacctacagtt	10	16	7	8	0	3	1	0	0	3	1	3	3	3	3	2	2	2	2	2	2	5	9	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1600C>T	p.Pro534Ser	p.P534S	ENST00000248633	9/24	290	237	53	294	294	0	strelka-varscan	PEX1,missense_variant,p.Pro534Ser,ENST00000248633,NM_000466.2;PEX1,missense_variant,p.Pro534Ser,ENST00000428214,NM_001282677.1;PEX1,missense_variant,p.Pro212Ser,ENST00000438045,NM_001282678.1;PEX1,non_coding_transcript_exon_variant,,ENST00000484913,;PEX1,intron_variant,,ENST00000422866,;PEX1,upstream_gene_variant,,ENST00000496420,;PEX1,downstream_gene_variant,,ENST00000476923,;	A	ENST00000248633	Transcript	missense_variant	1696/4385	1600/3852	534/1283	P/S	Cct/Tct		1		-1	PEX1	HGNC	HGNC:8850	protein_coding	YES	CCDS5627.1	ENSP00000248633	O43933		UPI0000001C39	NM_000466.2	tolerated(0.07)		9/24																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	92509399	92509399	G	A	1	0	0	0	0	1	0	0	0	11825	1174	41	3		3	PEX1	7	92509399	Missense_Mutation	SNP	G	C3N-00551_TP	4702004	92509399	66836574	278	16957											
SAMD9	0	.	GRCh38	chr7	93102692	93102692	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgtttcctccgttttcctCtatccaccatcttattttac	5	18	2	16	2	2	0	0	0	2	0	6	0	6	0	6	0	1	2	6	0	3	7	rs759775100		C3N-00551_TP	C3N-00551_NB	C	C																c.3406G>C	p.Glu1136Gln	p.E1136Q	ENST00000379958	3/3	404	359	45	400	400	0	strelka-varscan	SAMD9,missense_variant,p.Glu1136Gln,ENST00000379958,NM_017654.3;SAMD9,missense_variant,p.Glu1136Gln,ENST00000620985,NM_001193307.1;SAMD9,missense_variant,p.Glu1136Gln,ENST00000446617,;	G	ENST00000379958	Transcript	missense_variant	3676/6852	3406/4770	1136/1589	E/Q	Gag/Cag	rs759775100	1		-1	SAMD9	HGNC	HGNC:1348	protein_coding	YES	CCDS34680.1	ENSP00000369292	Q5K651		UPI0000038BC6	NM_017654.3	tolerated(0.06)		3/3		hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	93102692	93102692	C	G	1	0	0	0	0	1	0	0	0	14086	922	32	4		4	SAMD9	7	93102692	Missense_Mutation	SNP	C	C3N-00551_TP	593293	93102692	66243281	279	16958											
CALCR	0	.	GRCh38	chr7	93426493	93426493	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcctccgcagcagcggCtgcagcgcgagcagagcggt	7	3	16	15	5	0	1	0	0	0	1	1	2	1	1	3	2	7	5	3	2	0	0	rs143204333		C3N-00551_TP	C3N-00551_NB	C	C																c.1390G>T	p.Ala464Ser	p.A464S	ENST00000359558	16/16	142	111	31	119	119	0	strelka-varscan	CALCR,missense_variant,p.Ala464Ser,ENST00000359558,NM_001164737.1;CALCR,missense_variant,p.Ala446Ser,ENST00000421592,;CALCR,missense_variant,p.Ala430Ser,ENST00000394441,NM_001164738.1;CALCR,missense_variant,p.Ala430Ser,ENST00000426151,NM_001742.3;CALCR,3_prime_UTR_variant,,ENST00000360249,;CALCR,3_prime_UTR_variant,,ENST00000423724,;CALCR,3_prime_UTR_variant,,ENST00000415529,;	A	ENST00000359558	Transcript	missense_variant	1690/3696	1390/1527	464/508	A/S	Gcc/Tcc	rs143204333	1		-1	CALCR	HGNC	HGNC:1440	protein_coding	YES	CCDS55125.1	ENSP00000352561		A0A0A0MRG0	UPI0001B8380B	NM_001164737.1	tolerated(0.29)		16/16		Low_complexity_(Seg):seg,hmmpanther:PTHR12011:SF84,hmmpanther:PTHR12011,Prints_domain:PR00361																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	53	93426493	93426493	C	A	1	0	0	0	0	1	0	0	0	2269	797	28	2		2	CALCR	7	93426493	Missense_Mutation	SNP	C	C3N-00551_TP	323801	93426493	65919480	280	16959											
COL1A2	0	.	GRCh38	chr7	94429393	94429393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttgttgctgagggcaacaGcaggttcacttacactgttc	9	12	10	10	0	1	1	1	1	0	0	2	1	1	1	0	2	4	6	0	2	2	5	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.3917G>T	p.Ser1306Ile	p.S1306I	ENST00000297268	51/52	329	228	101	376	376	0	strelka-varscan	COL1A2,missense_variant,p.Ser1306Ile,ENST00000297268,NM_000089.3;COL1A2,missense_variant,p.Ser1304Ile,ENST00000620463,;COL1A2,non_coding_transcript_exon_variant,,ENST00000481570,;COL1A2,non_coding_transcript_exon_variant,,ENST00000464916,;COL1A2,downstream_gene_variant,,ENST00000478215,;COL1A2,downstream_gene_variant,,ENST00000469732,;COL1A2,downstream_gene_variant,,ENST00000492110,;COL1A2,downstream_gene_variant,,ENST00000488121,;	T	ENST00000297268	Transcript	missense_variant	4388/5411	3917/4101	1306/1366	S/I	aGc/aTc		1		1	COL1A2	HGNC	HGNC:2198	protein_coding	YES	CCDS34682.1	ENSP00000297268	P08123	A0A0S2Z3H5	UPI00003B0CFC	NM_000089.3	tolerated(0.09)		51/52		PD002078,Pfam_domain:PF01410,PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF568,SMART_domains:SM00038																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	94429393	94429393	G	T	1	0	0	0	0	1	0	0	0	3466	971	34	2		2	COL1A2	7	94429393	Missense_Mutation	SNP	G	C3N-00551_TP	1002900	94429393	64916580	281	16960											
TMEM130	0	.	GRCh38	chr7	98851534	98851534	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtgggtcaggttgtacGctgtgctggccacggacaca	7	9	16	9	2	1	0	1	0	0	0	1	1	1	1	1	5	2	4	1	5	1	2	rs148698491		C3N-00551_TP	C3N-00551_NB	G	G																c.893C>G	p.Ala298Gly	p.A298G	ENST00000416379	6/8	200	147	53	172	172	0	strelka-varscan	TMEM130,missense_variant,p.Ala214Gly,ENST00000450876,;TMEM130,missense_variant,p.Ala298Gly,ENST00000339375,NM_152913.2;TMEM130,missense_variant,p.Ala298Gly,ENST00000416379,NM_001134450.1;TMEM130,missense_variant,p.Ala196Gly,ENST00000345589,NM_001134451.1;TMEM130,non_coding_transcript_exon_variant,,ENST00000461092,;TMEM130,upstream_gene_variant,,ENST00000474857,;	C	ENST00000416379	Transcript	missense_variant	898/2881	893/1308	298/435	A/G	gCg/gGg	rs148698491	1		-1	TMEM130	HGNC	HGNC:25429	protein_coding	YES	CCDS47650.1	ENSP00000413163	Q8N3G9		UPI000006EF2E	NM_001134450.1	tolerated(0.18)		6/8		hmmpanther:PTHR11861:SF10,hmmpanther:PTHR11861,Superfamily_domains:SSF49299																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	98851534	98851534	G	C	1	0	0	0	0	1	0	0	0	16487	1087	38	4		4	TMEM130	7	98851534	Missense_Mutation	SNP	G	C3N-00551_TP	4422141	98851534	60494439	282	16961											
RELN	0	.	GRCh38	chr7	103635538	103635538	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgatcaggggctctgcaCgtgctcagaacagatttgct	8	10	13	10	1	3	3	2	1	1	2	3	3	3	3	0	3	4	5	0	3	1	1	rs148510862		C3N-00551_TP	C3N-00551_NB	C	C																c.2352G>T	p.=	p.T784T	ENST00000428762	19/65	202	173	29	252	252	0	strelka-varscan	RELN,synonymous_variant,p.=,ENST00000424685,;RELN,synonymous_variant,p.=,ENST00000428762,NM_005045.3;RELN,synonymous_variant,p.=,ENST00000343529,NM_173054.2;	A	ENST00000428762	Transcript	synonymous_variant	2512/11571	2352/10383	784/3460	T	acG/acT	rs148510862,COSM598293	1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3			19/65		hmmpanther:PTHR11841,Superfamily_domains:SSF50939											0,1						LOW	1	SNV	5		0,1	1										PASS		.	.												A	2	1	53	103635538	103635538	C	A	1	0	0	0	0	0	0	0	1	13390	523	19	1		1	RELN	7	103635538	Silent	SNP	C	C3N-00551_TP	4784004	103635538	55710435	283	16962											
PRKAR2B	0	.	GRCh38	chr7	107045151	107045151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcgccgaggagcccatgCagtccgactccgaggacggg	8	5	14	14	5	0	0	0	0	0	0	3	5	2	2	4	3	2	1	4	3	0	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.244C>A	p.Gln82Lys	p.Q82K	ENST00000265717	1/11	55	46	9	42	42	0	strelka-varscan	PRKAR2B,missense_variant,p.Gln82Lys,ENST00000265717,NM_002736.2;	A	ENST00000265717	Transcript	missense_variant	503/3745	244/1257	82/418	Q/K	Cag/Aag		1		1	PRKAR2B	HGNC	HGNC:9392	protein_coding	YES	CCDS5740.1	ENSP00000265717	P31323	A0A024R712	UPI000013D669	NM_002736.2	tolerated(0.83)		1/11		PIRSF_domain:PIRSF000548,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF121																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	107045151	107045151	C	A	1	0	0	0	0	1	0	0	0	12639	711	25	2		2	PRKAR2B	7	107045151	Missense_Mutation	SNP	C	C3N-00551_TP	3409613	107045151	52300822	284	16963											
LAMB1	0	.	GRCh38	chr7	107959307	107959307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagcactccccagtcactgGgtcgcagtcatcggcgtggc	7	7	12	15	3	2	0	2	0	0	0	5	0	3	0	2	3	1	2	2	3	1	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2632C>A	p.Pro878Thr	p.P878T	ENST00000222399	20/34	223	165	58	250	250	0	strelka-varscan	LAMB1,missense_variant,p.Pro902Thr,ENST00000393561,;LAMB1,missense_variant,p.Pro878Thr,ENST00000222399,NM_002291.2;LAMB1,downstream_gene_variant,,ENST00000393560,;	T	ENST00000222399	Transcript	missense_variant	2863/5725	2632/5361	878/1786	P/T	Cca/Aca		1		-1	LAMB1	HGNC	HGNC:6486	protein_coding	YES	CCDS5750.1	ENSP00000222399	P07942		UPI00001AE63F	NM_002291.2	tolerated(0.3)		20/34		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_profiles:PS50027,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	107959307	107959307	G	T	1	0	0	0	0	1	0	0	0	8514	1232	43	2		2	LAMB1	7	107959307	Missense_Mutation	SNP	G	C3N-00551_TP	914156	107959307	51386666	285	16964											
LAMB4	0	.	GRCh38	chr7	108103062	108103062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaatgcacgcgtagggatCtgagatggtcttgagcgggt	9	9	16	7	4	2	2	0	2	2	1	2	5	2	3	0	3	2	2	0	3	2	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1162G>T	p.Asp388Tyr	p.D388Y	ENST00000388781	10/34	71	57	14	57	57	0	strelka-varscan	LAMB4,missense_variant,p.Asp388Tyr,ENST00000388781,NM_007356.2;LAMB4,missense_variant,p.Asp388Tyr,ENST00000205386,NM_001318046.1;LAMB4,missense_variant,p.Asp388Tyr,ENST00000418464,NM_001318048.1;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;	A	ENST00000388781	Transcript	missense_variant	1246/5858	1162/5286	388/1761	D/Y	Gat/Tat		1		-1	LAMB4	HGNC	HGNC:6491	protein_coding	YES	CCDS34732.1	ENSP00000373433	A4D0S4		UPI0000198CD5	NM_007356.2	deleterious(0)		10/34		PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF279,SMART_domains:SM00180																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	108103062	108103062	C	A	1	0	0	0	0	1	0	0	0	8517	913	32	2		2	LAMB4	7	108103062	Missense_Mutation	SNP	C	C3N-00551_TP	143755	108103062	51242911	286	16965											
IMMP2L	0	.	GRCh38	chr7	110963551	110963552	+	Frame_Shift_Ins	INS	-	-	GGTTT																															cttaatgatcttctgttctgINSggtttttaggagacctagaa																								novel		C3N-00551_TP	C3N-00551_NB	-	-																c.249_253dupAAACC	p.Pro85GlnfsTer11	p.P85Qfs*11	ENST00000405709	4/6	78	66	12	56	56	0	sindel-pindel	IMMP2L,frameshift_variant,p.Pro85GlnfsTer11,ENST00000405709,NM_032549.3;IMMP2L,frameshift_variant,p.Pro85GlnfsTer11,ENST00000331762,NM_001244606.1;IMMP2L,frameshift_variant,p.Pro85GlnfsTer11,ENST00000447215,;IMMP2L,frameshift_variant,p.Pro85GlnfsTer11,ENST00000452895,;IMMP2L,frameshift_variant,p.Pro67GlnfsTer11,ENST00000450877,;IMMP2L,non_coding_transcript_exon_variant,,ENST00000489381,;IMMP2L,non_coding_transcript_exon_variant,,ENST00000487733,;	GGTTT	ENST00000405709	Transcript	frameshift_variant	696-697/1522	253-254/528	85/175	P/QTX	cca/cAAACCca		1		-1	IMMP2L	HGNC	HGNC:14598	protein_coding	YES	CCDS5753.1	ENSP00000384966	Q96T52	A4D0S9	UPI000006D162	NM_032549.3			4/6		Gene3D:2.10.109.10,Pfam_domain:PF00717,hmmpanther:PTHR12383,hmmpanther:PTHR12383:SF3,Superfamily_domains:SSF51306,TIGRFAM_domain:TIGR02227																	HIGH	1	insertion	1			1										PASS		.	.												GGTTT	7	5	53	110963551	110963551	-	GGTTT	1	0	1	1	0	0	0	0	0	7620	1348	47	0		0	IMMP2L	7	110963551	Frame_Shift_Ins	INS	-	C3N-00551_TP	2860489	110963551	48382422	287	16966											
CFTR	0	.	GRCh38	chr7	117614613	117614613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcttttgtgcatctatagGagaaggagaaggaagagttg	12	11	14	4	1	2	3	0	0	2	3	2	6	2	4	0	3	1	2	0	3	5	5	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.3368G>T	p.Gly1123Val	p.G1123V	ENST00000003084	21/27	300	227	73	380	380	0	strelka-varscan	CFTR,missense_variant,p.Gly1123Val,ENST00000003084,NM_000492.3;CFTR,missense_variant,p.Gly1093Val,ENST00000426809,;CFTR,missense_variant,p.Gly65Val,ENST00000468795,;AC000111.6,intron_variant,,ENST00000456270,;	T	ENST00000003084	Transcript	missense_variant,splice_region_variant	3500/6132	3368/4443	1123/1480	G/V	gGa/gTa		1		1	CFTR	HGNC	HGNC:1884	protein_coding	YES	CCDS5773.1	ENSP00000003084	P13569	A0A024R730	UPI000013C4D4	NM_000492.3	deleterious(0.01)		21/27		Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF19,Superfamily_domains:SSF90123,TIGRFAM_domain:TIGR01271																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	117614613	117614613	G	T	1	0	0	0	0	1	0	0	0	3052	1188	41	2		2	CFTR	7	117614613	Missense_Mutation	SNP	G	C3N-00551_TP	6651062	117614613	41731360	288	16967											
CPED1	0	.	GRCh38	chr7	121100023	121100023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttggtgacgtccttaaccCctttgcgtgcattcattcat	6	16	8	11	2	2	1	2	1	0	0	3	1	3	1	3	1	3	2	3	1	1	5	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.847C>T	p.Pro283Ser	p.P283S	ENST00000310396	7/23	242	224	18	236	236	0	strelka-varscan	CPED1,missense_variant,p.Pro283Ser,ENST00000310396,NM_024913.4;CPED1,missense_variant,p.Pro283Ser,ENST00000450913,NM_001105533.1;CPED1,missense_variant,p.Pro283Ser,ENST00000428526,;CPED1,missense_variant,p.Pro63Ser,ENST00000423795,;CPED1,missense_variant,p.Pro63Ser,ENST00000443817,;CPED1,downstream_gene_variant,,ENST00000520801,;	T	ENST00000310396	Transcript	missense_variant	1314/5340	847/3081	283/1026	P/S	Cct/Tct		1		1	CPED1	HGNC	HGNC:26159	protein_coding	YES	CCDS34739.1	ENSP00000309772	A4D0V7		UPI000013C813	NM_024913.4	deleterious(0)		7/23		hmmpanther:PTHR14776																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	121100023	121100023	C	T	1	0	0	0	0	1	0	0	0	3598	623	22	3		3	CPED1	7	121100023	Missense_Mutation	SNP	C	C3N-00551_TP	3485410	121100023	38245950	289	16968											
TAS2R16	0	.	GRCh38	chr7	122995106	122995106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtatgagcctggaactGatactgatgaaaattttcaa	15	12	8	6	0	1	4	1	4	0	0	1	5	1	5	1	1	4	1	1	1	7	4			C3N-00551_TP	C3N-00551_NB	G	G																c.529C>A	p.Gln177Lys	p.Q177K	ENST00000249284	1/1	165	118	47	202	201	1	strelka-varscan	TAS2R16,missense_variant,p.Gln177Lys,ENST00000249284,NM_016945.2;	T	ENST00000249284	Transcript	missense_variant	595/997	529/876	177/291	Q/K	Cag/Aag	COSM4498879	1		-1	TAS2R16	HGNC	HGNC:14921	protein_coding	YES	CCDS5785.1	ENSP00000249284	Q9NYV7		UPI0000038B18	NM_016945.2	tolerated(0.17)		1/1		Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF68,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	53	122995106	122995106	G	T	1	0	0	0	0	1	0	0	0	15968	1299	45	2		2	TAS2R16	7	122995106	Missense_Mutation	SNP	G	C3N-00551_TP	1895083	122995106	36350867	290	16969											
HYAL4	0	.	GRCh38	chr7	123868732	123868732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaatattggcgaccacagtgGgcccggaactggaactcaaa	13	6	12	10	2	1	0	1	0	0	0	1	4	1	2	2	4	2	0	2	4	5	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.459G>T	p.Trp153Cys	p.W153C	ENST00000223026	3/5	149	102	47	167	167	0	strelka-varscan	HYAL4,missense_variant,p.Trp153Cys,ENST00000223026,NM_012269.2;HYAL4,missense_variant,p.Trp153Cys,ENST00000476325,;HYAL4,downstream_gene_variant,,ENST00000489978,;HYAL4,downstream_gene_variant,,ENST00000488323,;HYAL4,missense_variant,p.Trp153Cys,ENST00000483878,;	T	ENST00000223026	Transcript	missense_variant	1097/2407	459/1446	153/481	W/C	tgG/tgT		1		1	HYAL4	HGNC	HGNC:5323	protein_coding	YES	CCDS5789.1	ENSP00000223026	Q2M3T9		UPI000006F62B	NM_012269.2	deleterious(0.02)		3/5		Gene3D:3.20.20.70,Pfam_domain:PF01630,PIRSF_domain:PIRSF038193,Prints_domain:PR00846,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF7,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	123868732	123868732	G	T	1	0	0	0	0	1	0	0	0	7362	1241	43	2		2	HYAL4	7	123868732	Missense_Mutation	SNP	G	C3N-00551_TP	873626	123868732	35477241	291	16970											
GRM8	0	.	GRCh38	chr7	126446207	126446207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttggatcagtttgctttGcatggtggcagctgtcacca	6	16	11	8	0	2	0	2	0	0	0	2	1	2	1	1	3	3	5	1	3	0	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2596C>A	p.Gln866Lys	p.Q866K	ENST00000339582	10/11	464	408	56	489	489	0	strelka-varscan	GRM8,missense_variant,p.Gln866Lys,ENST00000339582,NM_000845.2;GRM8,missense_variant,p.Gln866Lys,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Gln374Lys,ENST00000444921,;GRM8,non_coding_transcript_exon_variant,,ENST00000489939,;GRM8,non_coding_transcript_exon_variant,,ENST00000495315,;GRM8,missense_variant,p.Gln866Lys,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	T	ENST00000339582	Transcript	missense_variant	3405/4057	2596/2727	866/908	Q/K	Caa/Aaa		1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2	deleterious(0.01)		10/11		hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	53	126446207	126446207	G	T	1	0	0	0	0	1	0	0	0	6685	1328	46	2		2	GRM8	7	126446207	Missense_Mutation	SNP	G	C3N-00551_TP	2577475	126446207	32899766	292	16971											
FLNC	0	.	GRCh38	chr7	128843870	128843870	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgtggtgaatgtggcaccCccgctggacctcagcaaaat	9	10	11	11	1	1	1	1	1	0	0	1	2	1	2	3	3	1	3	3	3	3	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2886C>A	p.=	p.P962P	ENST00000325888	19/48	598	448	150	593	593	0	strelka-varscan	FLNC,synonymous_variant,p.=,ENST00000325888,NM_001458.4;FLNC,synonymous_variant,p.=,ENST00000346177,NM_001127487.1;FLNC,downstream_gene_variant,,ENST00000388853,;	A	ENST00000325888	Transcript	synonymous_variant	3147/9188	2886/8178	962/2725	P	ccC/ccA		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4			19/48		PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296,Superfamily_domains:SSF81296																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	128843870	128843870	C	A	1	0	0	0	0	0	0	0	1	5791	610	22	2		2	FLNC	7	128843870	Silent	SNP	C	C3N-00551_TP	2397663	128843870	30502103	293	16972											
CHRM2	0	.	GRCh38	chr7	137014982	137014982	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtttggtgaccattatCgggaacatcctagtcatggt	9	13	10	9	1	2	1	2	1	0	0	4	2	3	2	2	3	1	1	2	3	3	3	rs755854009		C3N-00551_TP	C3N-00551_NB	C	C																c.117C>A	p.=	p.I39I	ENST00000445907	3/3	285	248	37	307	307	0	strelka-varscan	CHRM2,synonymous_variant,p.=,ENST00000445907,NM_001006630.1,NM_001006627.1;CHRM2,synonymous_variant,p.=,ENST00000401861,NM_000739.2,NM_001006626.1,NM_001006628.1;CHRM2,synonymous_variant,p.=,ENST00000453373,NM_001006631.1,NM_001006629.1;CHRM2,synonymous_variant,p.=,ENST00000320658,NM_001006632.1;AC009264.1,intron_variant,,ENST00000439694,;AC009264.1,intron_variant,,ENST00000425981,;AC009264.1,intron_variant,,ENST00000586239,;AC009264.1,intron_variant,,ENST00000597642,;AC009264.1,intron_variant,,ENST00000598184,;AC009264.1,intron_variant,,ENST00000593789,;AC009264.1,intron_variant,,ENST00000592183,;	A	ENST00000445907	Transcript	synonymous_variant	645/5918	117/1401	39/466	I	atC/atA	rs755854009,COSM328223	1		1	CHRM2	HGNC	HGNC:1951	protein_coding	YES	CCDS5843.1	ENSP00000399745	P08172	A4D1Q0	UPI0000050410	NM_001006630.1,NM_001006627.1			3/3		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF57,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												A	2	1	53	137014982	137014982	C	A	1	0	0	0	0	0	0	0	1	3137	874	31	1		1	CHRM2	7	137014982	Silent	SNP	C	C3N-00551_TP	8171112	137014982	22330991	294	16973											
DGKI	0	.	GRCh38	chr7	137391295	137391295	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaggtaagcagccaagtcTgggtccccagcctgctgtgc	7	9	12	13	0	2	0	0	0	2	0	3	0	3	0	4	2	5	3	4	2	3	2	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.3123A>G	p.=	p.P1041P	ENST00000288490	34/34	120	111	9	152	152	0	strelka-varscan	DGKI,synonymous_variant,p.=,ENST00000453654,;DGKI,synonymous_variant,p.=,ENST00000424189,;DGKI,synonymous_variant,p.=,ENST00000446122,;DGKI,synonymous_variant,p.=,ENST00000288490,NM_004717.2;DGKI,synonymous_variant,p.=,ENST00000614521,;DGKI,non_coding_transcript_exon_variant,,ENST00000494390,;DGKI,non_coding_transcript_exon_variant,,ENST00000497321,;DGKI,non_coding_transcript_exon_variant,,ENST00000477835,;DGKI,non_coding_transcript_exon_variant,,ENST00000486153,;	C	ENST00000288490	Transcript	synonymous_variant	3124/3895	3123/3198	1041/1065	P	ccA/ccG		1		-1	DGKI	HGNC	HGNC:2855	protein_coding	YES	CCDS5845.1	ENSP00000288490	O75912		UPI000012DD23	NM_004717.2			34/34		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF41,Superfamily_domains:SSF48403																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	53	137391295	137391295	T	C	1	0	0	0	0	0	0	0	1	4277	1567	55	5		5	DGKI	7	137391295	Silent	SNP	T	C3N-00551_TP	376313	137391295	21954678	295	16974											
UBN2	0	.	GRCh38	chr7	139276120	139276120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttttaaggaaagccggaGtgttcataatcatcttactt	11	15	8	7	1	3	0	2	0	1	0	3	2	3	2	1	2	2	2	1	2	4	7			C3N-00551_TP	C3N-00551_NB	G	G																c.1997G>T	p.Ser666Ile	p.S666I	ENST00000473989	12/18	207	166	41	296	295	1	strelka-varscan	UBN2,missense_variant,p.Ser666Ile,ENST00000473989,NM_173569.3;UBN2,missense_variant,p.Ser435Ile,ENST00000483726,;	T	ENST00000473989	Transcript	missense_variant	1997/14444	1997/4044	666/1347	S/I	aGt/aTt	COSM4887328,COSM4887329	1		1	UBN2	HGNC	HGNC:21931	protein_coding	YES	CCDS43655.2	ENSP00000418648	Q6ZU65		UPI00001D74DF	NM_173569.3	tolerated(0.07)		12/18		hmmpanther:PTHR21669:SF10,hmmpanther:PTHR21669											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												T	3	4	53	139276120	139276120	G	T	1	0	0	0	0	1	0	0	0	17417	1029	36	2		2	UBN2	7	139276120	Missense_Mutation	SNP	G	C3N-00551_TP	1884825	139276120	20069853	296	16975											
CLCN1	0	.	GRCh38	chr7	143331232	143331232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctttccatcctacagTcaccatcactgctctgttca	7	13	5	16	0	4	0	3	0	1	0	6	0	6	0	4	1	2	2	4	1	1	3	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.980T>C	p.Val327Ala	p.V327A	ENST00000343257	9/23	506	477	29	630	630	0	strelka-varscan	CLCN1,missense_variant,p.Val327Ala,ENST00000343257,NM_000083.2;CLCN1,downstream_gene_variant,,ENST00000495612,;CLCN1,downstream_gene_variant,,ENST00000455478,;CLCN1,downstream_gene_variant,,ENST00000432192,;	C	ENST00000343257	Transcript	missense_variant,splice_region_variant	1067/3172	980/2967	327/988	V/A	gTc/gCc		1		1	CLCN1	HGNC	HGNC:2019	protein_coding	YES	CCDS5881.1	ENSP00000339867	P35523		UPI000020F1EC	NM_000083.2	tolerated(0.25)		9/23		hmmpanther:PTHR11689:SF29,hmmpanther:PTHR11689,Gene3D:1otsB00,Pfam_domain:PF00654,Superfamily_domains:SSF81340																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	143331232	143331232	T	C	1	0	0	0	0	1	0	0	0	3226	1681	58	5		5	CLCN1	7	143331232	Missense_Mutation	SNP	T	C3N-00551_TP	4055112	143331232	16014741	297	16976											
CNTNAP2	0	.	GRCh38	chr7	148118282	148118282	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatttcatcaagctggagCtgaagtgtgagtataagttg	13	12	12	4	0	2	3	2	2	0	1	2	4	2	4	0	1	2	4	0	1	5	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2548C>A	p.Leu850Met	p.L850M	ENST00000361727	16/24	390	354	36	385	385	0	strelka-varscan	CNTNAP2,missense_variant,p.Leu850Met,ENST00000361727,NM_014141.5;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637020,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000627772,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000631199,;	A	ENST00000361727	Transcript	missense_variant	3066/9896	2548/3996	850/1331	L/M	Ctg/Atg		1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	tolerated(0.07)		16/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	148118282	148118282	C	A	1	0	0	0	0	1	0	0	0	3428	796	28	2		2	CNTNAP2	7	148118282	Missense_Mutation	SNP	C	C3N-00551_TP	4787050	148118282	11227691	298	16977											
KMT2C	0	.	GRCh38	chr7	152144784	152144784	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccggtactgcgatgactTggagtgaacaaactgtttac	10	12	10	9	2	0	2	0	2	0	0	1	4	1	3	1	2	5	2	1	2	4	5	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.14272A>C	p.Lys4758Gln	p.K4758Q	ENST00000262189	55/59	145	137	8	152	152	0	strelka-varscan	KMT2C,missense_variant,p.Lys4758Gln,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Lys4758Gln,ENST00000355193,;KMT2C,missense_variant,p.Lys2315Gln,ENST00000360104,;KMT2C,missense_variant,p.Lys1371Gln,ENST00000424877,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	G	ENST00000262189	Transcript	missense_variant	14491/16862	14272/14736	4758/4911	K/Q	Aag/Cag		1		-1	KMT2C	HGNC	HGNC:13726	protein_coding	YES	CCDS5931.1	ENSP00000262189	Q8NEZ4		UPI0000141B9F	NM_170606.2	deleterious(0)		55/59		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF373,Gene3D:2.170.270.10,Superfamily_domains:SSF82199																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	152144784	152144784	T	G	1	0	0	0	0	1	0	0	0	8297	1821	63	5		5	KMT2C	7	152144784	Missense_Mutation	SNP	T	C3N-00551_TP	4026502	152144784	7201189	299	16978											
HTR5A	0	.	GRCh38	chr7	155084301	155084301	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcattggcgtgttcgtgctCtgctggatccccttctttct	2	17	9	13	2	4	0	1	0	3	0	6	1	5	1	2	2	2	3	2	2	0	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.888C>G	p.=	p.L296L	ENST00000287907	2/2	320	292	28	353	353	0	strelka-varscan	HTR5A,synonymous_variant,p.=,ENST00000287907,NM_024012.3;HTR5A,non_coding_transcript_exon_variant,,ENST00000486819,;	G	ENST00000287907	Transcript	synonymous_variant	1464/2912	888/1074	296/357	L	ctC/ctG		1		1	HTR5A	HGNC	HGNC:5300	protein_coding	YES	CCDS5936.1	ENSP00000287907	P47898	A4D2N2	UPI000004477E	NM_024012.3			2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF108,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	53	155084301	155084301	C	G	1	0	0	0	0	0	0	0	1	7346	900	32	4		4	HTR5A	7	155084301	Silent	SNP	C	C3N-00551_TP	2939517	155084301	4261672	300	16979											
MYOM2	0	.	GRCh38	chr8	2085280	2085280	+	Missense_Mutation	SNP	G	G	C																															caggtgacgcccaggttccaGggcctcccaccggtgtgcac																								rs747372809		C3N-00551_TP	C3N-00551_NB	G	G																c.1534G>C	p.Gly512Arg	p.G512R	ENST00000262113	14/37	97	91	6	151	151	0	strelka-varscan-mutect	MYOM2,missense_variant,p.Gly512Arg,ENST00000262113,NM_003970.3;MYOM2,intron_variant,,ENST00000523438,;MYOM2,non_coding_transcript_exon_variant,,ENST00000519518,;MYOM2,non_coding_transcript_exon_variant,,ENST00000518803,;	C	ENST00000262113	Transcript	missense_variant	1675/5014	1534/4398	512/1465	G/R	Ggg/Cgg	rs747372809	1		1	MYOM2	HGNC	HGNC:7614	protein_coding	YES	CCDS5957.1	ENSP00000262113	P54296		UPI000442D01B	NM_003970.3	deleterious(0.01)		14/37		hmmpanther:PTHR13817,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs747372809	.												C	3	2	53	2085280	2085280	G	C	1	0	0	0	0	1	0	0	0	10093	1000	35	4		4	MYOM2	8	2085280	Missense_Mutation	SNP	G	C3N-00551_TP		2085280	143053356	301	16980	366	2									
MYOM2	0	.	GRCh38	chr8	2085281	2085281	+	Missense_Mutation	SNP	G	G	T																															aggtgacgcccaggttccagGgcctcccaccggtgtgcacg																								rs771483671		C3N-00551_TP	C3N-00551_NB	G	G																c.1535G>T	p.Gly512Val	p.G512V	ENST00000262113	14/37	100	94	6	152	152	0	strelka-varscan-mutect	MYOM2,missense_variant,p.Gly512Val,ENST00000262113,NM_003970.3;MYOM2,intron_variant,,ENST00000523438,;MYOM2,non_coding_transcript_exon_variant,,ENST00000519518,;MYOM2,non_coding_transcript_exon_variant,,ENST00000518803,;	T	ENST00000262113	Transcript	missense_variant	1676/5014	1535/4398	512/1465	G/V	gGg/gTg	rs771483671	1		1	MYOM2	HGNC	HGNC:7614	protein_coding	YES	CCDS5957.1	ENSP00000262113	P54296		UPI000442D01B	NM_003970.3	deleterious(0.01)		14/37		hmmpanther:PTHR13817,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs771483671	.												T	3	4	53	2085281	2085281	G	T	1	0	0	0	0	1	0	0	0	10093	1232	43	2		2	MYOM2	8	2085281	Missense_Mutation	SNP	G	C3N-00551_TP	1	2085281	143053355	302	16981	366	2									
GATA4	0	.	GRCh38	chr8	11750136	11750136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccgccgagtgggcctctCctgtgccaactgccagacca	6	7	10	18	2	1	1	0	0	1	1	3	2	2	1	7	1	3	0	7	1	1	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.812C>A	p.Ser271Tyr	p.S271Y	ENST00000532059	3/6	581	534	47	681	680	1	strelka-varscan-mutect	GATA4,missense_variant,p.Ser270Tyr,ENST00000335135,NM_002052.3;GATA4,missense_variant,p.Ser64Tyr,ENST00000528712,NM_001308094.1;GATA4,missense_variant,p.Ser269Tyr,ENST00000622443,;GATA4,missense_variant,p.Ser271Tyr,ENST00000532059,NM_001308093.1;GATA4,missense_variant,p.Ser64Tyr,ENST00000526716,;	A	ENST00000532059	Transcript	missense_variant	892/1459	812/1332	271/443	S/Y	tCc/tAc		1		1	GATA4	HGNC	HGNC:4173	protein_coding	YES	CCDS78303.1	ENSP00000435712	P43694		UPI0000210221	NM_001308093.1	deleterious(0.01)		3/6		Gene3D:3.30.50.10,PIRSF_domain:PIRSF003028,PROSITE_profiles:PS50114,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF154,SMART_domains:SM00401,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	11750136	11750136	C	A	1	0	0	0	0	1	0	0	0	6126	855	30	2		2	GATA4	8	11750136	Missense_Mutation	SNP	C	C3N-00551_TP	9664855	11750136	133388500	303	16982											
ATP6V1B2	0	.	GRCh38	chr8	20210344	20210344	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattaattctttttcttgatAggtatttgaagggacttcag	10	18	8	5	0	3	2	1	2	2	0	3	3	3	3	0	2	0	1	0	2	4	9	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.292-2A>G		p.X98_splice	ENST00000276390		109	99	10	150	150	0	strelka-varscan-mutect	ATP6V1B2,splice_acceptor_variant,,ENST00000276390,NM_001693.3;ATP6V1B2,splice_acceptor_variant,,ENST00000519667,;ATP6V1B2,splice_acceptor_variant,,ENST00000523482,;ATP6V1B2,splice_acceptor_variant,,ENST00000520830,;ATP6V1B2,splice_acceptor_variant,,ENST00000523478,;	G	ENST00000276390	Transcript	splice_acceptor_variant	-/2875	292/1536	98/511				1		1	ATP6V1B2	HGNC	HGNC:854	protein_coding	YES	CCDS6014.1	ENSP00000276390	P21281	A0A140VK65	UPI00001380AD	NM_001693.3				3/13																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	53	20210344	20210344	A	G	1	0	0	0	0	0	0	1	0	1332	434	15	5		5	ATP6V1B2	8	20210344	Splice_Site	SNP	A	C3N-00551_TP	8460208	20210344	124928292	304	16983											
PPP3CC	0	.	GRCh38	chr8	22522731	22522731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctgcccccaattacctaGatgtctataacaataaaggt	13	12	5	11	0	2	1	0	0	2	1	3	1	2	1	3	1	3	0	3	1	8	5	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.925G>A	p.Asp309Asn	p.D309N	ENST00000397775	8/15	129	121	8	170	170	0	strelka-varscan-mutect	PPP3CC,missense_variant,p.Asp309Asn,ENST00000240139,NM_005605.4;PPP3CC,missense_variant,p.Asp309Asn,ENST00000289963,NM_001243975.1;PPP3CC,missense_variant,p.Asp309Asn,ENST00000397775,NM_001243974.1;PPP3CC,missense_variant,p.Asp309Asn,ENST00000518852,;PPP3CC,missense_variant,p.Asp186Asn,ENST00000521651,;PPP3CC,missense_variant,p.Asp159Asn,ENST00000522034,;PPP3CC,incomplete_terminal_codon_variant,p.=,ENST00000523620,;	A	ENST00000397775	Transcript	missense_variant	1199/2094	925/1566	309/521	D/N	Gat/Aat		1		1	PPP3CC	HGNC	HGNC:9316	protein_coding	YES	CCDS59093.1	ENSP00000380878	P48454		UPI00017A7ABA	NM_001243974.1	deleterious(0)		8/15		Gene3D:3.60.21.10,Prints_domain:PR00114,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF186,SMART_domains:SM00156,Superfamily_domains:SSF56300																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	53	22522731	22522731	G	A	1	0	0	0	0	1	0	0	0	12521	942	33	3		3	PPP3CC	8	22522731	Missense_Mutation	SNP	G	C3N-00551_TP	2312387	22522731	122615905	305	16984											
EPHX2	0	.	GRCh38	chr8	27511839	27511839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctttcctgcttacagcttCtcaataccccggcccctctg	6	12	5	18	1	2	0	1	0	2	0	4	0	3	0	6	1	4	2	6	1	3	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.664C>T	p.Leu222Phe	p.L222F	ENST00000521400	6/19	180	144	36	248	248	0	strelka-varscan-mutect	EPHX2,missense_variant,p.Leu222Phe,ENST00000521400,NM_001979.5;EPHX2,missense_variant,p.Leu169Phe,ENST00000380476,NM_001256482.1,NM_001256484.1;EPHX2,missense_variant,p.Leu156Phe,ENST00000521780,NM_001256483.1;EPHX2,missense_variant,p.Leu222Phe,ENST00000518379,;EPHX2,missense_variant,p.Leu181Phe,ENST00000521684,;EPHX2,intron_variant,,ENST00000517536,;EPHX2,downstream_gene_variant,,ENST00000520666,;EPHX2,non_coding_transcript_exon_variant,,ENST00000520623,;EPHX2,non_coding_transcript_exon_variant,,ENST00000521924,;EPHX2,upstream_gene_variant,,ENST00000523326,;	T	ENST00000521400	Transcript	missense_variant	1094/3140	664/1668	222/555	L/F	Ctc/Ttc		1		1	EPHX2	HGNC	HGNC:3402	protein_coding	YES	CCDS6060.1	ENSP00000430269	P34913		UPI0000073FE5	NM_001979.5	tolerated(0.11)		6/19		hmmpanther:PTHR10992:SF855,hmmpanther:PTHR10992																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	27511839	27511839	C	T	1	0	0	0	0	1	0	0	0	5027	927	32	3		3	EPHX2	8	27511839	Missense_Mutation	SNP	C	C3N-00551_TP	4989108	27511839	117626797	306	16985											
KIF13B	0	.	GRCh38	chr8	29140519	29140519	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattgtaacttcacatcataGaaaagtgactcgaggaagac	16	10	8	7	1	2	3	2	1	0	2	3	5	2	4	0	1	1	1	0	1	6	5	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2433C>T	p.=	p.F811F	ENST00000524189	20/40	99	91	8	119	119	0	strelka-varscan-mutect	KIF13B,synonymous_variant,p.=,ENST00000524189,NM_015254.3;CTD-2647L4.1,non_coding_transcript_exon_variant,,ENST00000517632,;CTD-2647L4.1,non_coding_transcript_exon_variant,,ENST00000523661,;	A	ENST00000524189	Transcript	synonymous_variant	2472/8745	2433/5481	811/1826	F	ttC/ttT		1		-1	KIF13B	HGNC	HGNC:14405	protein_coding	YES	CCDS55217.1	ENSP00000427900	Q9NQT8		UPI000035B257	NM_015254.3			20/40		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF338																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	29140519	29140519	G	A	1	0	0	0	0	0	0	0	1	8139	933	33	3		3	KIF13B	8	29140519	Silent	SNP	G	C3N-00551_TP	1628680	29140519	115998117	307	16986											
UNC5D	0	.	GRCh38	chr8	35748659	35748659	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agttctgagcattggaatatCcatttaaagaagaggacaca	16	10	9	6	0	1	3	0	1	1	2	2	5	2	5	1	2	1	2	1	2	5	5	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1899C>A	p.=	p.I633I	ENST00000404895	12/17	127	120	7	208	208	0	strelka-varscan	UNC5D,synonymous_variant,p.=,ENST00000287272,;UNC5D,synonymous_variant,p.=,ENST00000453357,;UNC5D,synonymous_variant,p.=,ENST00000416672,;UNC5D,synonymous_variant,p.=,ENST00000404895,NM_080872.2;UNC5D,synonymous_variant,p.=,ENST00000420357,;UNC5D,synonymous_variant,p.=,ENST00000449677,;	A	ENST00000404895	Transcript	synonymous_variant	2227/3252	1899/2862	633/953	I	atC/atA		1		1	UNC5D	HGNC	HGNC:18634	protein_coding	YES	CCDS6093.2	ENSP00000385143	Q6UXZ4		UPI00001D6915	NM_080872.2			12/17		Pfam_domain:PF00791,PROSITE_profiles:PS51145,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF5,SMART_domains:SM00218																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	35748659	35748659	C	A	1	0	0	0	0	0	0	0	1	17519	845	30	2		2	UNC5D	8	35748659	Silent	SNP	C	C3N-00551_TP	6608140	35748659	109389977	308	16987											
UNC5D	0	.	GRCh38	chr8	35759374	35759374	+	Frame_Shift_Del	DEL	T	T	-																															agctcctggaagaaccaaaaTtgctgcatttcaaagggaat																								novel		C3N-00551_TP	C3N-00551_NB	T	T																c.2219delT	p.Leu740CysfsTer86	p.L740Cfs*86	ENST00000404895	14/17	98	91	7	250	250	0	sindel-varindel-pindel	UNC5D,frameshift_variant,p.Leu671CysfsTer86,ENST00000287272,;UNC5D,frameshift_variant,p.Leu735CysfsTer86,ENST00000453357,;UNC5D,frameshift_variant,p.Leu745CysfsTer86,ENST00000416672,;UNC5D,frameshift_variant,p.Leu740CysfsTer86,ENST00000404895,NM_080872.2;UNC5D,frameshift_variant,p.Leu673CysfsTer86,ENST00000420357,;UNC5D,frameshift_variant,p.Leu316CysfsTer86,ENST00000449677,;	-	ENST00000404895	Transcript	frameshift_variant	2546/3252	2218/2862	740/953	L/X	Ttg/tg		1		1	UNC5D	HGNC	HGNC:18634	protein_coding	YES	CCDS6093.2	ENSP00000385143	Q6UXZ4		UPI00001D6915	NM_080872.2			14/17		hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF5																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	53	35759374	35759374	T	-	1	0	1	0	1	0	0	0	0	17519	1490	52	0		0	UNC5D	8	35759374	Frame_Shift_Del	DEL	T	C3N-00551_TP	10715	35759374	109379262	309	16988											
ADAM18	0	.	GRCh38	chr8	39680100	39680100	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctaataaaagtgacgcTcaatctacagtttattcata	16	13	5	7	1	3	1	2	1	1	0	3	1	3	1	0	0	2	3	0	0	8	7	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1695T>A	p.=	p.A565A	ENST00000265707	16/20	165	143	22	316	316	0	strelka-varscan	ADAM18,synonymous_variant,p.=,ENST00000265707,NM_014237.2;ADAM18,synonymous_variant,p.=,ENST00000379866,NM_001320313.1;ADAM18,3_prime_UTR_variant,,ENST00000520087,;	A	ENST00000265707	Transcript	synonymous_variant	1740/2388	1695/2220	565/739	A	gcT/gcA		1		1	ADAM18	HGNC	HGNC:196	protein_coding	YES	CCDS6113.1	ENSP00000265707	Q9Y3Q7		UPI00001254D7	NM_014237.2			16/20		Pfam_domain:PF08516,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF158,SMART_domains:SM00608																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	39680100	39680100	T	A	1	0	0	0	0	0	0	0	1	283	1538	54	4		4	ADAM18	8	39680100	Silent	SNP	T	C3N-00551_TP	3920726	39680100	105458536	310	16989											
SNTG1	0	.	GRCh38	chr8	50704654	50704654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgtgcagtctgagtctGgggaggacctgtacttctca	7	11	12	11	1	4	1	2	1	3	0	5	3	4	3	2	3	2	2	2	3	1	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1093G>T	p.Gly365Trp	p.G365W	ENST00000522124	16/19	278	239	39	361	361	0	strelka-varscan	SNTG1,missense_variant,p.Gly365Trp,ENST00000522124,NM_018967.3;SNTG1,missense_variant,p.Gly365Trp,ENST00000518864,NM_001287813.1;SNTG1,missense_variant,p.Gly365Trp,ENST00000517473,NM_001287814.1;SNTG1,3_prime_UTR_variant,,ENST00000520825,;SNTG1,3_prime_UTR_variant,,ENST00000524004,;	T	ENST00000522124	Transcript	missense_variant	1754/3504	1093/1554	365/517	G/W	Ggg/Tgg		1		1	SNTG1	HGNC	HGNC:13740	protein_coding	YES	CCDS6147.1	ENSP00000429842	Q9NSN8	A0A024R7Y0	UPI000004A0DD	NM_018967.3	deleterious(0)		16/19		Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF2,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	50704654	50704654	G	T	1	0	0	0	0	1	0	0	0	15194	1348	47	2		2	SNTG1	8	50704654	Missense_Mutation	SNP	G	C3N-00551_TP	11024554	50704654	94433982	311	16990											
TRPA1	0	.	GRCh38	chr8	72034275	72034275	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggaggatgtaaaagctGagtccaaaagccagaagaag	17	6	12	6	0	1	3	1	1	0	2	2	5	2	5	2	2	2	2	2	2	6	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2658C>A	p.=	p.L886L	ENST00000262209	22/27	260	212	48	257	257	0	strelka-varscan	TRPA1,synonymous_variant,p.=,ENST00000262209,NM_007332.2;TRPA1,synonymous_variant,p.=,ENST00000523582,;MSC-AS1,intron_variant,,ENST00000457356,;MSC-AS1,intron_variant,,ENST00000522519,;MSC-AS1,intron_variant,,ENST00000518916,;MSC-AS1,intron_variant,,ENST00000512290,;MSC-AS1,intron_variant,,ENST00000519751,;MSC-AS1,intron_variant,,ENST00000524152,;MSC-AS1,intron_variant,,ENST00000519068,;TRPA1,downstream_gene_variant,,ENST00000519720,;TRPA1,downstream_gene_variant,,ENST00000522271,;	T	ENST00000262209	Transcript	synonymous_variant	2866/5223	2658/3360	886/1119	L	ctC/ctA		1		-1	TRPA1	HGNC	HGNC:497	protein_coding	YES	CCDS34908.1	ENSP00000262209	O75762		UPI000021081A	NM_007332.2			22/27		Pfam_domain:PF00520,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF6,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	72034275	72034275	G	T	1	0	0	0	0	0	0	0	1	17082	1277	45	2		2	TRPA1	8	72034275	Silent	SNP	G	C3N-00551_TP	21329621	72034275	73104361	312	16991											
GDAP1	0	.	GRCh38	chr8	74361951	74361951	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccagatttacaagaagcAtacattgcaaaacagaaacg	20	6	6	9	1	0	3	0	0	0	3	0	3	0	3	1	0	7	2	1	0	8	4	rs746438323		C3N-00551_TP	C3N-00551_NB	A	A																c.552A>T	p.=	p.A184A	ENST00000220822	4/6	487	439	48	494	494	0	strelka-varscan	GDAP1,synonymous_variant,p.=,ENST00000220822,NM_018972.2;GDAP1,synonymous_variant,p.=,ENST00000434412,NM_001040875.2;GDAP1,non_coding_transcript_exon_variant,,ENST00000521096,;GDAP1,non_coding_transcript_exon_variant,,ENST00000520797,;GDAP1,non_coding_transcript_exon_variant,,ENST00000524366,;GDAP1,upstream_gene_variant,,ENST00000524195,;GDAP1,downstream_gene_variant,,ENST00000523640,;GDAP1,3_prime_UTR_variant,,ENST00000522568,;	T	ENST00000220822	Transcript	synonymous_variant	632/3666	552/1077	184/358	A	gcA/gcT	rs746438323	1		1	GDAP1	HGNC	HGNC:15968	protein_coding	YES	CCDS34911.1	ENSP00000220822	Q8TB36		UPI00001AE62B	NM_018972.2			4/6		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50405																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	74361951	74361951	A	T	1	0	0	0	0	0	0	0	1	6179	204	8	4		4	GDAP1	8	74361951	Silent	SNP	A	C3N-00551_TP	2327676	74361951	70776685	313	16992											
KCNS2	0	.	GRCh38	chr8	98429188	98429188	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggcatcctcgtggtggtCctgcccatcaccttgatctt	5	12	10	14	1	2	1	1	1	1	0	5	1	4	1	4	3	1	2	4	3	0	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1209C>A	p.=	p.V403V	ENST00000287042	2/2	119	77	42	97	97	0	strelka-varscan	KCNS2,synonymous_variant,p.=,ENST00000287042,NM_020697.2;KCNS2,synonymous_variant,p.=,ENST00000521839,;STK3,intron_variant,,ENST00000517832,;	A	ENST00000287042	Transcript	synonymous_variant	1559/5219	1209/1434	403/477	V	gtC/gtA		1		1	KCNS2	HGNC	HGNC:6301	protein_coding	YES	CCDS6279.1	ENSP00000287042	Q9ULS6		UPI0000001653	NM_020697.2			2/2		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,Prints_domain:PR01491,Prints_domain:PR01494,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF60,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	98429188	98429188	C	A	1	0	0	0	0	0	0	0	1	8005	842	30	2		2	KCNS2	8	98429188	Silent	SNP	C	C3N-00551_TP	24067237	98429188	46709448	314	16993											
FZD6	0	.	GRCh38	chr8	103325465	103325465	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataacttgggtctctgatcaTtgtcgtcagtaccatatccc	9	14	7	11	1	3	1	2	1	1	0	6	1	4	1	2	1	2	1	2	1	3	5	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1359T>G	p.His453Gln	p.H453Q	ENST00000358755	4/7	268	234	34	200	200	0	strelka-varscan	FZD6,missense_variant,p.His453Gln,ENST00000358755,NM_003506.3;FZD6,missense_variant,p.His453Gln,ENST00000522566,NM_001164615.1;FZD6,missense_variant,p.His421Gln,ENST00000523739,NM_001164616.1;FZD6,missense_variant,p.His453Gln,ENST00000522484,;FZD6,3_prime_UTR_variant,,ENST00000521195,;FZD6,3_prime_UTR_variant,,ENST00000519011,;FZD6,3_prime_UTR_variant,,ENST00000523933,;	G	ENST00000358755	Transcript	missense_variant	1676/3788	1359/2121	453/706	H/Q	caT/caG		1		1	FZD6	HGNC	HGNC:4044	protein_coding	YES	CCDS6298.1	ENSP00000351605	O60353	A0A024R9E9	UPI0000061EB0	NM_003506.3	tolerated(0.33)		4/7		PROSITE_profiles:PS50261,hmmpanther:PTHR11309:SF75,hmmpanther:PTHR11309,Pfam_domain:PF01534,SMART_domains:SM01330																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	103325465	103325465	T	G	1	0	0	0	0	1	0	0	0	6005	1490	52	5		5	FZD6	8	103325465	Missense_Mutation	SNP	T	C3N-00551_TP	4896277	103325465	41813171	315	16994											
RIMS2	0	.	GRCh38	chr8	103961095	103961095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataagtgatagtgaagtctCtgactatgactgtgatgatg	13	13	11	4	0	1	6	0	6	1	0	2	6	1	6	0	0	0	0	0	0	5	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2732C>G	p.Ser911Cys	p.S911C	ENST00000504942	15/24	151	135	16	125	125	0	strelka-varscan	RIMS2,missense_variant,p.Ser703Cys,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Ser689Cys,ENST00000436393,;RIMS2,missense_variant,p.Ser911Cys,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Ser853Cys,ENST00000626043,;RIMS2,missense_variant,p.Ser703Cys,ENST00000408894,;RIMS2,missense_variant,p.Ser750Cys,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Ser899Cys,ENST00000632716,;RIMS2,missense_variant,p.Ser305Cys,ENST00000507677,;	G	ENST00000504942	Transcript	missense_variant	2871/4228	2732/4050	911/1349	S/C	tCt/tGt		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0)		15/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	53	103961095	103961095	C	G	1	0	0	0	0	1	0	0	0	13543	913	32	4		4	RIMS2	8	103961095	Missense_Mutation	SNP	C	C3N-00551_TP	635630	103961095	41177541	316	16995											
NUDCD1	0	.	GRCh38	chr8	109243263	109243264	+	Frame_Shift_Ins	INS	-	-	A																															gagtaatttggagcacaggcINSaaaaaattttttgtctctct																								novel		C3N-00551_TP	C3N-00551_NB	-	-																c.1497dupT	p.Ala500CysfsTer13	p.A500Cfs*13	ENST00000239690	10/10	94	79	15	76	76	0	sindel-varindel-pindel	NUDCD1,frameshift_variant,p.Ala500CysfsTer13,ENST00000239690,NM_032869.3;NUDCD1,frameshift_variant,p.Ala471CysfsTer13,ENST00000427660,NM_001128211.1;NUDCD1,3_prime_UTR_variant,,ENST00000519607,;	A	ENST00000239690	Transcript	frameshift_variant	1872-1873/4217	1497-1498/1752	499-500/583	-/X	-/T		1		-1	NUDCD1	HGNC	HGNC:24306	protein_coding	YES	CCDS6312.1	ENSP00000239690	Q96RS6		UPI000021048A	NM_032869.3			10/10		hmmpanther:PTHR21664																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	53	109243263	109243263	-	A	1	0	1	1	0	0	0	0	0	10788	710	25	0		0	NUDCD1	8	109243263	Frame_Shift_Ins	INS	-	C3N-00551_TP	5282168	109243263	35895373	317	16996											
PKHD1L1	0	.	GRCh38	chr8	109427136	109427136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatggagaagcacctgcGgaaagcagaatcttctacag	15	7	10	9	1	3	2	1	0	2	2	3	4	3	3	1	2	4	2	1	2	5	2	rs199692519		C3N-00551_TP	C3N-00551_NB	G	G																c.2980G>A	p.Gly994Arg	p.G994R	ENST00000378402	25/78	187	169	18	302	302	0	strelka-varscan	PKHD1L1,missense_variant,p.Gly994Arg,ENST00000378402,NM_177531.4;	A	ENST00000378402	Transcript	missense_variant	3084/13076	2980/12732	994/4243	G/R	Gga/Aga	rs199692519,COSM748795	1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	deleterious(0)		25/78													0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	53	109427136	109427136	G	A	1	0	0	0	0	1	0	0	0	12068	1117	39	1		1	PKHD1L1	8	109427136	Missense_Mutation	SNP	G	C3N-00551_TP	183873	109427136	35711500	318	16997											
PKHD1L1	0	.	GRCh38	chr8	109445020	109445020	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtgaaacatcccctgcTgcccaacagcttgtggatgt	10	10	10	11	0	0	1	0	1	0	0	1	3	1	2	3	1	5	2	3	1	3	1	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.5151T>A	p.=	p.A1717A	ENST00000378402	38/78	260	236	24	200	200	0	strelka-varscan	PKHD1L1,synonymous_variant,p.=,ENST00000378402,NM_177531.4;	A	ENST00000378402	Transcript	synonymous_variant	5255/13076	5151/12732	1717/4243	A	gcT/gcA		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4			38/78		Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	109445020	109445020	T	A	1	0	0	0	0	0	0	0	1	12068	1567	55	4		4	PKHD1L1	8	109445020	Silent	SNP	T	C3N-00551_TP	17884	109445020	35693616	319	16998											
PKHD1L1	0	.	GRCh38	chr8	109481452	109481452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggaggtagattaatcggtgGctgggaagataaccctttta	11	11	14	5	1	0	2	0	0	0	2	1	4	0	4	1	5	1	2	1	5	5	5	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.9347G>T	p.Gly3116Val	p.G3116V	ENST00000378402	56/78	108	95	13	139	139	0	strelka-varscan	PKHD1L1,missense_variant,p.Gly3116Val,ENST00000378402,NM_177531.4;PKHD1L1,missense_variant,p.Gly44Val,ENST00000526472,;	T	ENST00000378402	Transcript	missense_variant	9451/13076	9347/12732	3116/4243	G/V	gGc/gTc		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	deleterious(0)		56/78		Pfam_domain:PF10162,PROSITE_profiles:PS51484,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF330,SMART_domains:SM01225																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	109481452	109481452	G	T	1	0	0	0	0	1	0	0	0	12068	1203	42	2		2	PKHD1L1	8	109481452	Missense_Mutation	SNP	G	C3N-00551_TP	36432	109481452	35657184	320	16999											
EXT1	0	.	GRCh38	chr8	118110431	118110431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgatgtcaaaccccacgtCctcggtgtagtcaggccaag	9	7	11	14	3	2	0	2	0	0	0	4	1	3	0	5	2	1	1	5	2	3	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.616G>T	p.Asp206Tyr	p.D206Y	ENST00000378204	1/11	733	515	218	620	619	1	strelka-varscan	EXT1,missense_variant,p.Asp206Tyr,ENST00000378204,NM_000127.2;EXT1,upstream_gene_variant,,ENST00000436216,;EXT1,intron_variant,,ENST00000437196,;	A	ENST00000378204	Transcript	missense_variant	1423/8270	616/2241	206/746	D/Y	Gac/Tac		1		-1	EXT1	HGNC	HGNC:3512	protein_coding	YES	CCDS6324.1	ENSP00000367446	Q16394		UPI000012A3A1	NM_000127.2	deleterious(0)		1/11		Pfam_domain:PF03016,hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF97																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	118110431	118110431	C	A	1	0	0	0	0	1	0	0	0	5191	855	30	2		2	EXT1	8	118110431	Missense_Mutation	SNP	C	C3N-00551_TP	8628979	118110431	27028205	321	17000											
TAF2	0	.	GRCh38	chr8	119795590	119795590	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttttcatccaaagtccaTagatatagcctgaaattccc	12	15	4	10	0	1	2	1	1	0	1	4	2	4	2	4	0	1	0	4	0	5	7	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1133A>G	p.Tyr378Cys	p.Y378C	ENST00000378164	9/26	498	470	28	490	489	1	strelka-varscan	TAF2,missense_variant,p.Tyr378Cys,ENST00000378164,NM_003184.3;TAF2,missense_variant,p.Tyr71Cys,ENST00000523904,;TAF2,upstream_gene_variant,,ENST00000523734,;	C	ENST00000378164	Transcript	missense_variant	1432/5048	1133/3600	378/1199	Y/C	tAt/tGt		1		-1	TAF2	HGNC	HGNC:11536	protein_coding	YES	CCDS34937.1	ENSP00000367406	Q6P1X5		UPI0000210507	NM_003184.3	tolerated(0.2)		9/26		hmmpanther:PTHR15137,Pfam_domain:PF01433,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	119795590	119795590	T	C	1	0	0	0	0	1	0	0	0	15920	1406	49	5		5	TAF2	8	119795590	Missense_Mutation	SNP	T	C3N-00551_TP	1685159	119795590	25343046	322	17001											
SNTB1	0	.	GRCh38	chr8	120548907	120548907	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttcgcgttgcaaaggaCagatccacaccagcctgggg	10	6	12	13	2	0	1	0	0	0	1	2	2	1	2	4	3	2	3	4	3	1	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1188G>T	p.=	p.L396L	ENST00000395601	6/8	94	87	7	102	102	0	strelka-varscan	SNTB1,synonymous_variant,p.=,ENST00000395601,NM_021021.3;SNTB1,synonymous_variant,p.=,ENST00000517992,;	A	ENST00000395601	Transcript	synonymous_variant	1603/5164	1188/1617	396/538	L	ctG/ctT		1		-1	SNTB1	HGNC	HGNC:11168	protein_coding	YES	CCDS6334.1	ENSP00000378965	Q13884		UPI0000135B20	NM_021021.3			6/8		PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF11,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	53	120548907	120548907	C	A	1	0	0	0	0	0	0	0	1	15192	465	17	2		2	SNTB1	8	120548907	Silent	SNP	C	C3N-00551_TP	753317	120548907	24589729	323	17002											
FER1L6	0	.	GRCh38	chr8	123956025	123956025	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctgaaggtgaagaagaaGagaaataaggcagagaaggg	18	3	18	2	0	0	6	0	2	0	4	0	8	0	6	0	4	0	2	0	4	7	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.27G>A	p.=	p.K9K	ENST00000522917	2/41	249	184	65	216	216	0	strelka-varscan	FER1L6,synonymous_variant,p.=,ENST00000522917,NM_001039112.2;	A	ENST00000522917	Transcript	synonymous_variant	233/6051	27/5574	9/1857	K	aaG/aaA		1		1	FER1L6	HGNC	HGNC:28065	protein_coding	YES	CCDS43767.1	ENSP00000428280	Q2WGJ9		UPI0000E9B4AA	NM_001039112.2			2/41		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF37																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	123956025	123956025	G	A	1	0	0	0	0	0	0	0	1	5678	933	33	3		3	FER1L6	8	123956025	Silent	SNP	G	C3N-00551_TP	3407118	123956025	21182611	324	17003											
KCNQ3	0	.	GRCh38	chr8	132184300	132184301	+	Frame_Shift_Ins	INS	-	-	A																															ccgccagcctttgtatcggcINSagcaacatccagcagcccag																								novel		C3N-00551_TP	C3N-00551_NB	-	-																c.544dupT	p.Cys182LeufsTer102	p.C182Lfs*102	ENST00000388996	3/15	716	500	216	699	699	0	sindel-varindel-pindel	KCNQ3,frameshift_variant,p.Cys182LeufsTer102,ENST00000388996,NM_004519.3;KCNQ3,frameshift_variant,p.Cys61LeufsTer102,ENST00000621976,;KCNQ3,frameshift_variant,p.Cys182LeufsTer102,ENST00000519445,;KCNQ3,frameshift_variant,p.Cys62LeufsTer102,ENST00000521134,NM_001204824.1;KCNQ3,non_coding_transcript_exon_variant,,ENST00000519589,;	A	ENST00000388996	Transcript	frameshift_variant	965-966/11441	544-545/2619	182/872	C/LX	tgc/tTgc		1		-1	KCNQ3	HGNC	HGNC:6297	protein_coding	YES	CCDS34943.1	ENSP00000373648	O43525		UPI00001279F0	NM_004519.3			3/15		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR01459,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF5,Superfamily_domains:SSF81324																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	53	132184300	132184300	-	A	1	0	1	1	0	0	0	0	0	8000	710	25	0		0	KCNQ3	8	132184300	Frame_Shift_Ins	INS	-	C3N-00551_TP	8228275	132184300	12954336	325	17004											
ZFAT	0	.	GRCh38	chr8	134601841	134601841	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgatcacttcaccttgCgtctggactgagcttctgtg	6	14	11	10	1	4	2	2	2	2	0	4	3	4	3	1	1	2	1	1	1	0	3	rs777603767		C3N-00551_TP	C3N-00551_NB	C	C																c.1878G>T	p.=	p.T626T	ENST00000377838	6/16	88	77	11	122	122	0	strelka-varscan	ZFAT,synonymous_variant,p.=,ENST00000520727,NM_001029939.3,NM_001289394.1;ZFAT,synonymous_variant,p.=,ENST00000377838,NM_020863.3;ZFAT,synonymous_variant,p.=,ENST00000429442,;ZFAT,synonymous_variant,p.=,ENST00000520214,NM_001167583.2;ZFAT,synonymous_variant,p.=,ENST00000520356,NM_001174158.1;ZFAT,synonymous_variant,p.=,ENST00000523399,NM_001174157.1;ZFAT-AS1,downstream_gene_variant,,ENST00000505776,;ZFAT-AS1_2,downstream_gene_variant,,ENST00000613742,;ZFAT-AS1_3,downstream_gene_variant,,ENST00000611506,;ZFAT-AS1_1,downstream_gene_variant,,ENST00000620907,;ZFAT,downstream_gene_variant,,ENST00000523040,;ZFAT,synonymous_variant,p.=,ENST00000523243,;ZFAT,3_prime_UTR_variant,,ENST00000523924,;ZFAT,non_coding_transcript_exon_variant,,ENST00000522974,;ZFAT,upstream_gene_variant,,ENST00000519827,;	A	ENST00000377838	Transcript	synonymous_variant	2053/4597	1878/3732	626/1243	T	acG/acT	rs777603767,COSM604396,COSM604397	1		-1	ZFAT	HGNC	HGNC:19899	protein_coding	YES	CCDS47924.1	ENSP00000367069	Q9P243		UPI0000210061	NM_020863.3			6/16													0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		.	.												A	2	1	53	134601841	134601841	C	A	1	0	0	0	0	0	0	0	1	18209	755	27	1		1	ZFAT	8	134601841	Silent	SNP	C	C3N-00551_TP	2417541	134601841	10536795	326	17005											
FAM135B	0	.	GRCh38	chr8	138152157	138152157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctactgatgtggggaGcagatacagacttggttaac	10	10	14	7	0	0	3	0	1	0	2	0	4	0	4	0	4	4	3	0	4	3	4			C3N-00551_TP	C3N-00551_NB	G	G																c.2318C>A	p.Ala773Asp	p.A773D	ENST00000395297	13/20	114	96	18	120	120	0	strelka-varscan	FAM135B,missense_variant,p.Ala773Asp,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Ala773Asp,ENST00000276737,;FAM135B,missense_variant,p.Ala83Asp,ENST00000467365,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000395295,;	T	ENST00000395297	Transcript	missense_variant	2489/6962	2318/4221	773/1406	A/D	gCt/gAt	COSM1096482,COSM1096483	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	deleterious(0)		13/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	53	138152157	138152157	G	T	1	0	0	0	0	1	0	0	0	5299	971	34	2		2	FAM135B	8	138152157	Missense_Mutation	SNP	G	C3N-00551_TP	3550316	138152157	6986479	327	17006											
FAM135B	0	.	GRCh38	chr8	138242983	138242983	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtacccagctccaaagaccaAgttttccagagaaatgatag	15	8	8	10	0	0	3	0	1	0	2	2	4	2	3	4	0	2	3	4	0	5	4			C3N-00551_TP	C3N-00551_NB	A	A																c.628T>G	p.Leu210Val	p.L210V	ENST00000395297	7/20	186	175	11	166	166	0	strelka-varscan	FAM135B,missense_variant,p.Leu210Val,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Leu210Val,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;	C	ENST00000395297	Transcript	missense_variant	799/6962	628/4221	210/1406	L/V	Ttg/Gtg	COSM3319132,COSM3319133,COSM604319,COSM604320	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	tolerated(0.57)		7/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		.	.												C	3	2	53	138242983	138242983	A	C	1	0	0	0	0	1	0	0	0	5299	69	3	5		5	FAM135B	8	138242983	Missense_Mutation	SNP	A	C3N-00551_TP	90826	138242983	6895653	328	17007											
PTK2	0	.	GRCh38	chr8	140735290	140735290	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtaaacctgggccgcctgCtggggtcataggcccagcat	8	7	13	13	1	1	0	1	0	0	0	1	0	1	0	4	4	3	3	4	4	3	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1991G>T	p.Ser664Ile	p.S664I	ENST00000340930	22/33	422	288	134	343	343	0	strelka-varscan	PTK2,missense_variant,p.Ser664Ile,ENST00000522684,NM_153831.3;PTK2,missense_variant,p.Ser708Ile,ENST00000517887,;PTK2,missense_variant,p.Ser708Ile,ENST00000519419,;PTK2,missense_variant,p.Ser664Ile,ENST00000395218,;PTK2,missense_variant,p.Ser664Ile,ENST00000340930,NM_001199649.1;PTK2,missense_variant,p.Ser664Ile,ENST00000521059,NM_005607.4;PTK2,missense_variant,p.Ser675Ile,ENST00000519654,;PTK2,missense_variant,p.Ser292Ile,ENST00000519465,;PTK2,missense_variant,p.Ser336Ile,ENST00000523539,;PTK2,missense_variant,p.Ser362Ile,ENST00000521986,;MIR151A,upstream_gene_variant,,ENST00000521276,;PTK2,non_coding_transcript_exon_variant,,ENST00000518509,;PTK2,splice_region_variant,,ENST00000521981,;PTK2,3_prime_UTR_variant,,ENST00000519993,NM_001316342.1;PTK2,3_prime_UTR_variant,,ENST00000524202,;PTK2,3_prime_UTR_variant,,ENST00000521029,;PTK2,non_coding_transcript_exon_variant,,ENST00000520917,;PTK2,intron_variant,,ENST00000521250,;	A	ENST00000340930	Transcript	missense_variant	2146/4414	1991/3198	664/1065	S/I	aGc/aTc		1		-1	PTK2	HGNC	HGNC:9611	protein_coding	YES	CCDS56557.1	ENSP00000341189	Q05397		UPI0001E8F57E	NM_001199649.1	deleterious(0.04)		22/33		Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF78,Prints_domain:PR00109																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	53	140735290	140735290	C	A	1	0	0	0	0	1	0	0	0	12918	797	28	2		2	PTK2	8	140735290	Missense_Mutation	SNP	C	C3N-00551_TP	2492307	140735290	4403346	329	17008											
RHPN1	0	.	GRCh38	chr8	143378796	143378796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttcctcacccctgccaGgagcctcgggctcttcttcc	3	10	9	19	2	3	0	1	0	2	0	6	1	5	1	6	2	2	2	6	2	0	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.560G>T	p.Arg187Met	p.R187M	ENST00000289013	6/15	255	230	25	231	230	1	strelka-varscan	RHPN1,missense_variant,p.Arg187Met,ENST00000289013,NM_052924.2;RHPN1,non_coding_transcript_exon_variant,,ENST00000522335,;RHPN1,upstream_gene_variant,,ENST00000522899,;	T	ENST00000289013	Transcript	missense_variant	661/3683	560/2013	187/670	R/M	aGg/aTg		1		1	RHPN1	HGNC	HGNC:19973	protein_coding	YES	CCDS47927.1	ENSP00000289013	Q8TCX5		UPI0000071870	NM_052924.2	deleterious(0)		6/15		PROSITE_profiles:PS51180,hmmpanther:PTHR23031:SF6,hmmpanther:PTHR23031,Pfam_domain:PF03097,Gene3D:2xs1A01,SMART_domains:SM01041																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	143378796	143378796	G	T	1	0	0	0	0	1	0	0	0	13523	1000	35	2		2	RHPN1	8	143378796	Missense_Mutation	SNP	G	C3N-00551_TP	2643506	143378796	1759840	330	17009											
PLEC	0	.	GRCh38	chr8	143922364	143922364	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagggcctgcgtctccTgcagcagctgctcctgctgc	3	9	13	16	1	1	0	0	0	1	0	3	0	2	0	3	1	8	7	3	1	0	0	rs782783768		C3N-00551_TP	C3N-00551_NB	T	T																c.7868A>T	p.Gln2623Leu	p.Q2623L	ENST00000322810	32/32	568	401	167	654	654	0	strelka-varscan	PLEC,missense_variant,p.Gln2623Leu,ENST00000322810,NM_201380.3;PLEC,missense_variant,p.Gln2486Leu,ENST00000345136,NM_201384.2;PLEC,missense_variant,p.Gln2513Leu,ENST00000436759,NM_000445.4;PLEC,missense_variant,p.Gln2464Leu,ENST00000354958,NM_201379.2;PLEC,missense_variant,p.Gln2486Leu,ENST00000354589,NM_201382.3;PLEC,missense_variant,p.Gln2490Leu,ENST00000357649,NM_201383.2;PLEC,missense_variant,p.Gln2472Leu,ENST00000356346,NM_201378.3;PLEC,missense_variant,p.Gln2454Leu,ENST00000398774,NM_201381.2;PLEC,missense_variant,p.Gln2509Leu,ENST00000527096,;PLEC,missense_variant,p.Gln56Leu,ENST00000527303,;	A	ENST00000322810	Transcript	missense_variant	8038/15249	7868/14055	2623/4684	Q/L	cAg/cTg	rs782783768	1		-1	PLEC	HGNC	HGNC:9069	protein_coding	YES	CCDS43772.1	ENSP00000323856	Q15149		UPI0000233FCD	NM_201380.3	deleterious_low_confidence(0.02)		32/32		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	143922364	143922364	T	A	1	0	0	0	0	1	0	0	0	12145	1580	55	4		4	PLEC	8	143922364	Missense_Mutation	SNP	T	C3N-00551_TP	543568	143922364	1216272	331	17010											
MROH1	0	.	GRCh38	chr8	144261123	144261123	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctccccagatgcaccatTtcccagacctgctgggccgt	6	9	8	18	1	1	2	0	0	1	2	3	2	2	2	7	1	2	2	7	1	0	1	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.4681T>G	p.Phe1561Val	p.F1561V	ENST00000528919	41/43	302	251	51	239	239	0	strelka-varscan	MROH1,missense_variant,p.Phe1561Val,ENST00000528919,NM_032450.2;MROH1,missense_variant,p.Phe1561Val,ENST00000326134,;MROH1,missense_variant,p.Phe1552Val,ENST00000534366,NM_001288814.1;MROH1,missense_variant,p.Phe523Val,ENST00000544576,;BOP1,downstream_gene_variant,,ENST00000569669,NM_015201.4;BOP1,downstream_gene_variant,,ENST00000569403,;BOP1,downstream_gene_variant,,ENST00000616126,;BOP1,downstream_gene_variant,,ENST00000563210,;BOP1,downstream_gene_variant,,ENST00000568812,;BOP1,downstream_gene_variant,,ENST00000569160,;	G	ENST00000528919	Transcript	missense_variant	4802/5234	4681/4926	1561/1641	F/V	Ttc/Gtc		1		1	MROH1	HGNC	HGNC:26958	protein_coding	YES	CCDS47938.1	ENSP00000435565	Q8NDA8		UPI0001AE6FA6	NM_032450.2	deleterious(0)		41/43		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF13,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	144261123	144261123	T	G	1	0	0	0	0	1	0	0	0	9743	1841	64	5		5	MROH1	8	144261123	Missense_Mutation	SNP	T	C3N-00551_TP	338759	144261123	877513	332	17011											
IL33	0	.	GRCh38	chr9	6241769	6241769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacagcaagcaaagccttGtgtttcaagctgggaagtaa	15	8	10	8	0	1	0	1	0	0	0	1	1	1	1	1	1	5	5	1	1	6	3	rs750079169		C3N-00551_TP	C3N-00551_NB	G	G																c.75G>T	p.Leu25Phe	p.L25F	ENST00000381434	1/7	79	72	7	145	145	0	strelka-varscan-mutect	IL33,missense_variant,p.Leu25Phe,ENST00000381434,NM_001314046.1,NM_001314047.1,NM_001314044.1,NM_001314045.1,NM_033439.3;IL33,missense_variant,p.Leu25Phe,ENST00000456383,NM_001199640.1;IL33,missense_variant,p.Leu25Phe,ENST00000417746,NM_001199641.1;IL33,missense_variant,p.Leu25Phe,ENST00000611532,;IL33,non_coding_transcript_exon_variant,,ENST00000463336,;	T	ENST00000381434	Transcript	missense_variant	88/2641	75/813	25/270	L/F	ttG/ttT	rs750079169	1		1	IL33	HGNC	HGNC:16028	protein_coding	YES	CCDS6468.1	ENSP00000370842	O95760		UPI000000DBB2	NM_001314046.1,NM_001314047.1,NM_001314044.1,NM_001314045.1,NM_033439.3	deleterious(0.02)		1/7		Pfam_domain:PF15095,hmmpanther:PTHR21114,hmmpanther:PTHR21114:SF0																	MODERATE	1	SNV	1			1										PASS		rs750079169	.												T	3	4	53	6241769	6241769	G	T	1	0	0	0	0	1	0	0	0	7592	1368	48	2		2	IL33	9	6241769	Missense_Mutation	SNP	G	C3N-00551_TP		6241769	132152948	333	17012											
FREM1	0	.	GRCh38	chr9	14812999	14812999	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccacctctcctccctcTgagcaattcatgacaggcat	10	10	6	15	0	3	3	1	3	2	0	5	3	4	3	4	1	1	2	4	1	1	1	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.2706A>T	p.=	p.S902S	ENST00000422223	17/38	121	105	16	176	176	0	strelka-varscan-mutect	FREM1,synonymous_variant,p.=,ENST00000422223,NM_144966.5;FREM1,synonymous_variant,p.=,ENST00000380880,;FREM1,synonymous_variant,p.=,ENST00000380875,;	A	ENST00000422223	Transcript	synonymous_variant	3522/10086	2706/6540	902/2179	S	tcA/tcT		1		-1	FREM1	HGNC	HGNC:23399	protein_coding	YES	CCDS47952.1	ENSP00000412940	Q5H8C1		UPI000057A218	NM_144966.5			17/38		Pfam_domain:PF16184,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF24																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	53	14812999	14812999	T	A	1	0	0	0	0	0	0	0	1	5911	1567	55	4		4	FREM1	9	14812999	Silent	SNP	T	C3N-00551_TP	8571230	14812999	123581718	334	17013											
SAXO1	0	.	GRCh38	chr9	18928879	18928879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttagtcacatcctccaaggGgatgttacagagctttggca	10	11	11	9	0	1	1	1	0	0	1	3	2	3	2	2	3	2	4	2	3	3	3	rs757111310		C3N-00551_TP	C3N-00551_NB	G	G																c.598C>A	p.Pro200Thr	p.P200T	ENST00000380534	4/4	213	184	29	287	286	1	strelka-varscan-mutect	SAXO1,missense_variant,p.Pro200Thr,ENST00000380534,NM_153707.3;SAXO1,missense_variant,p.Pro135Thr,ENST00000542071,NM_001287049.1;SAXO1,3_prime_UTR_variant,,ENST00000380530,NM_001287050.1;	T	ENST00000380534	Transcript	missense_variant	878/2099	598/1425	200/474	P/T	Ccc/Acc	rs757111310	1		-1	SAXO1	HGNC	HGNC:28566	protein_coding	YES	CCDS6487.1	ENSP00000369907	Q8IYX7		UPI0000367609	NM_153707.3	deleterious(0)		4/4		hmmpanther:PTHR31516,hmmpanther:PTHR31516:SF9																	MODERATE	1	SNV	1			1										PASS		rs757111310	.												T	3	4	53	18928879	18928879	G	T	1	0	0	0	0	1	0	0	0	14118	1232	43	2		2	SAXO1	9	18928879	Missense_Mutation	SNP	G	C3N-00551_TP	4115880	18928879	119465838	335	17014											
ARID3C	0	.	GRCh38	chr9	34622467	34622467	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggtgccaatttctcccGtgtaggtcccagtgccaggc	5	11	11	14	1	2	0	0	0	2	0	4	0	3	0	4	3	2	1	4	3	2	2	rs146137441		C3N-00551_TP	C3N-00551_NB	G	G																c.928C>A	p.=	p.R310R	ENST00000378909	5/7	80	62	18	100	100	0	strelka-varscan-mutect	ARID3C,synonymous_variant,p.=,ENST00000378909,NM_001017363.1;DCTN3,upstream_gene_variant,,ENST00000378913,;DCTN3,upstream_gene_variant,,ENST00000341694,NM_024348.3,NM_001281426.1;DCTN3,upstream_gene_variant,,ENST00000259632,NM_007234.4;DCTN3,upstream_gene_variant,,ENST00000378916,NM_001281425.1;DCTN3,upstream_gene_variant,,ENST00000477738,NM_001281427.1;DCTN3,upstream_gene_variant,,ENST00000421919,;DCTN3,upstream_gene_variant,,ENST00000378911,;	T	ENST00000378909	Transcript	synonymous_variant	1021/1411	928/1239	310/412	R	Cgg/Agg	rs146137441	1		-1	ARID3C	HGNC	HGNC:21209	protein_coding	YES	CCDS35006.1	ENSP00000368189	A6NKF2		UPI0000509F06	NM_001017363.1			5/7		PROSITE_profiles:PS51486,hmmpanther:PTHR15348,hmmpanther:PTHR15348:SF2																	LOW		SNV	2			1										PASS		rs146137441	.												T	2	4	53	34622467	34622467	G	T	1	0	0	0	0	0	0	0	1	1054	1144	40	1		1	ARID3C	9	34622467	Silent	SNP	G	C3N-00551_TP	15693588	34622467	103772250	336	17015											
SPATA31A1	0	.	GRCh38	chr9	39359356	39359356	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgccctgcatcgcagaatAaagtgcaagctctctcccta	10	10	7	14	1	1	1	0	0	1	1	4	1	2	1	2	0	4	4	2	0	5	3	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.1633A>C	p.Lys545Gln	p.K545Q	ENST00000377647	4/4	337	304	33	470	470	0	varscan-mutect	SPATA31A1,missense_variant,p.Lys545Gln,ENST00000377647,NM_001085452.2;RP11-347J14.4,downstream_gene_variant,,ENST00000615174,;SPATA31A1,downstream_gene_variant,,ENST00000473440,;	C	ENST00000377647	Transcript	missense_variant	1653/4256	1633/4086	545/1361	K/Q	Aaa/Caa		1		1	SPATA31A1	HGNC	HGNC:23394	protein_coding	YES	CCDS43808.2	ENSP00000366875		A0A0R4J2F1	UPI0001AE6DFD	NM_001085452.2	deleterious(0.01)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18,Pfam_domain:PF14650																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	39359356	39359356	A	C	1	0	0	0	0	1	0	0	0	15343	363	13	5		5	SPATA31A1	9	39359356	Missense_Mutation	SNP	A	C3N-00551_TP	4736889	39359356	99035361	337	17016											
APBA1	0	.	GRCh38	chr9	69432654	69432654	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcctcctctctcagctattCcccctcgcatgaggctgcag	5	10	8	18	2	2	1	1	1	1	0	6	1	4	1	4	1	2	4	4	1	1	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2324G>T	p.Gly775Val	p.G775V	ENST00000265381	12/13	44	31	13	33	33	0	strelka-mutect	APBA1,missense_variant,p.Gly775Val,ENST00000265381,NM_001163.3;RP11-548B3.3,upstream_gene_variant,,ENST00000457328,;	A	ENST00000265381	Transcript	missense_variant	2547/6534	2324/2514	775/837	G/V	gGa/gTa		1		-1	APBA1	HGNC	HGNC:578	protein_coding	YES	CCDS6630.1	ENSP00000265381	Q02410		UPI000013D611	NM_001163.3	deleterious(0)		12/13		PROSITE_profiles:PS50106,hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF14,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		rs1445102276	.												A	3	1	53	69432654	69432654	C	A	1	0	0	0	0	1	0	0	0	876	855	30	2		2	APBA1	9	69432654	Missense_Mutation	SNP	C	C3N-00551_TP	30073298	69432654	68962063	338	17017											
KIAA0368	0	.	GRCh38	chr9	111383304	111383304	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctctggccagctgctcctTtggcagggtcacacattttc	5	14	9	13	0	2	0	1	0	1	0	5	0	3	0	2	3	2	3	2	3	0	4	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.4244A>T	p.Lys1415Ile	p.K1415I	ENST00000259335	36/51	134	92	42	138	138	0	strelka-varscan-mutect	KIAA0368,missense_variant,p.Lys1415Ile,ENST00000259335,NM_001080398.1;KIAA0368,missense_variant,p.Lys1237Ile,ENST00000338205,;	A	ENST00000259335	Transcript	missense_variant	4244/7391	4244/6054	1415/2017	K/I	aAa/aTa		1		-1	KIAA0368	HGNC	HGNC:29020	protein_coding	YES	CCDS48006.1	ENSP00000259335		J3KN16	UPI0000DD7F7A	NM_001080398.1	tolerated(0.29)		36/51		hmmpanther:PTHR23346,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	2			1										PASS		rs1423090125	.												A	3	1	53	111383304	111383304	T	A	1	0	0	0	0	1	0	0	0	8083	1841	64	4		4	KIAA0368	9	111383304	Missense_Mutation	SNP	T	C3N-00551_TP	41950650	111383304	27011413	339	17018											
DNM1	0	.	GRCh38	chr9	128219159	128219159	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttatgcagtttgtcaccAaggagaactgcctcatcctg	9	12	9	11	0	2	1	2	0	0	1	3	2	3	1	3	1	4	3	3	1	3	2	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.496A>T	p.Lys166Ter	p.K166*	ENST00000372923	4/22	343	241	102	364	364	0	strelka-varscan-mutect	DNM1,stop_gained,p.Lys166Ter,ENST00000627543,;DNM1,stop_gained,p.Lys166Ter,ENST00000628346,;DNM1,stop_gained,p.Lys166Ter,ENST00000341179,NM_001005336.2;DNM1,stop_gained,p.Lys166Ter,ENST00000393594,NM_001288737.1,NM_001288738.1;DNM1,stop_gained,p.Lys166Ter,ENST00000372923,NM_004408.3;DNM1,stop_gained,p.Lys166Ter,ENST00000486160,NM_001288739.1;DNM1,stop_gained,p.Lys166Ter,ENST00000634267,;DNM1,stop_gained,p.Lys166Ter,ENST00000627061,;DNM1,stop_gained,p.Lys166Ter,ENST00000475805,;DNM1,downstream_gene_variant,,ENST00000637094,;DNM1,downstream_gene_variant,,ENST00000636103,;DNM1,downstream_gene_variant,,ENST00000636874,;DNM1,downstream_gene_variant,,ENST00000635766,;DNM1,stop_gained,p.Lys166Ter,ENST00000636280,;DNM1,stop_gained,p.Lys109Ter,ENST00000637999,;DNM1,non_coding_transcript_exon_variant,,ENST00000441149,;DNM1,upstream_gene_variant,,ENST00000482638,;	T	ENST00000372923	Transcript	stop_gained	615/3244	496/2595	166/864	K/*	Aag/Tag		1		1	DNM1	HGNC	HGNC:2972	protein_coding	YES	CCDS6895.1	ENSP00000362014	Q05193		UPI000013CA31	NM_004408.3			4/22		Gene3D:3.40.50.300,Pfam_domain:PF00350,PROSITE_profiles:PS51718,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF32,SMART_domains:SM00053,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	53	128219159	128219159	A	T	1	0	0	0	0	0	1	0	0	4483	131	5	4		4	DNM1	9	128219159	Nonsense_Mutation	SNP	A	C3N-00551_TP	16835855	128219159	10175558	340	17019											
HMCN2	0	.	GRCh38	chr9	130393906	130393906	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgagcaggggcccagcCtgcagctggaggcagtggga	7	4	18	12	1	0	0	0	0	0	0	1	3	0	2	3	5	4	4	3	5	0	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.10396C>A	p.Leu3466Met	p.L3466M	ENST00000624552	68/98	165	135	30	198	198	0	strelka-varscan-mutect	HMCN2,missense_variant,p.Leu3466Met,ENST00000624552,NM_001291815.1;HMCN2,3_prime_UTR_variant,,ENST00000487727,;HMCN2,upstream_gene_variant,,ENST00000480829,;	A	ENST00000624552	Transcript	missense_variant	10396/15610	10396/15180	3466/5059	L/M	Ctg/Atg		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	deleterious(0.03)		68/98		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	53	130393906	130393906	C	A	1	0	0	0	0	1	0	0	0	7112	680	24	2		2	HMCN2	9	130393906	Missense_Mutation	SNP	C	C3N-00551_TP	2174747	130393906	8000811	341	17020											
FAM78A	0	.	GRCh38	chr9	131260985	131260985	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgatgggctcccgcagcCgggcgcgctggcccaggggc	3	3	20	15	5	0	0	0	0	0	0	1	1	1	0	3	6	1	3	3	6	0	0	rs143378086		C3N-00551_TP	C3N-00551_NB	C	C																c.689G>T	p.Arg230Leu	p.R230L	ENST00000372271	2/2	83	63	20	86	86	0	strelka-varscan-mutect	FAM78A,missense_variant,p.Arg230Leu,ENST00000372271,NM_033387.3;FAM78A,missense_variant,p.Arg227Leu,ENST00000372269,;FAM78A,missense_variant,p.Arg199Leu,ENST00000464831,;FAM78A,non_coding_transcript_exon_variant,,ENST00000247295,;	A	ENST00000372271	Transcript	missense_variant	1057/3966	689/852	230/283	R/L	cGg/cTg	rs143378086	1		-1	FAM78A	HGNC	HGNC:25465	protein_coding	YES	CCDS6941.2	ENSP00000361345	Q5JUQ0		UPI000013F430	NM_033387.3	deleterious(0.04)		2/2		hmmpanther:PTHR31655,hmmpanther:PTHR31655:SF3																	MODERATE	1	SNV	1			1										PASS		rs143378086	.												A	3	1	53	131260985	131260985	C	A	1	0	0	0	0	1	0	0	0	5487	652	23	1		1	FAM78A	9	131260985	Missense_Mutation	SNP	C	C3N-00551_TP	867079	131260985	7133732	342	17021											
TSC1	0	.	GRCh38	chr9	132927305	132927305	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagcatagggccacggtCtaaatcaagaaaagggcaat	17	6	10	8	1	2	1	1	0	1	1	2	1	2	1	1	3	2	2	1	3	9	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.107-1G>T		p.X36_splice	ENST00000298552		387	306	81	535	535	0	strelka-varscan-mutect	TSC1,splice_acceptor_variant,,ENST00000298552,NM_000368.4,NM_001162426.1;TSC1,splice_acceptor_variant,,ENST00000440111,;TSC1,splice_acceptor_variant,,ENST00000545250,NM_001162427.1;TSC1,splice_acceptor_variant,,ENST00000403810,;TSC1,splice_acceptor_variant,,ENST00000475903,;TSC1,splice_acceptor_variant,,ENST00000490179,;TSC1,upstream_gene_variant,,ENST00000461879,;TSC1,splice_acceptor_variant,,ENST00000493467,;	A	ENST00000298552	Transcript	splice_acceptor_variant	-/8604	107/3495	36/1164				1		-1	TSC1	HGNC	HGNC:12362	protein_coding	YES	CCDS6956.1	ENSP00000298552	Q92574	X5D9D2	UPI000013773E	NM_000368.4,NM_001162426.1				3/22																		HIGH	1	SNV	1			1										PASS		rs1064793494	.												A	5	1	53	132927305	132927305	C	A	1	0	0	0	0	0	0	1	0	17111	927	32	2		2	TSC1	9	132927305	Splice_Site	SNP	C	C3N-00551_TP	1666320	132927305	5467412	343	17022											
GBGT1	0	.	GRCh38	chr9	133154113	133154113	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgggagtgaccctggaTggggatggagctgagaagcc	9	6	18	8	0	0	2	0	2	0	1	0	7	0	6	3	5	2	1	3	5	1	0	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.508A>G	p.Ile170Val	p.I170V	ENST00000372040	7/7	123	112	11	167	167	0	strelka-varscan-mutect	GBGT1,missense_variant,p.Ile170Val,ENST00000372040,NM_021996.5,NM_001288572.1;GBGT1,missense_variant,p.Ile153Val,ENST00000540636,NM_001288573.1,NM_001282632.1;GBGT1,synonymous_variant,p.=,ENST00000372043,NM_001282629.1;GBGT1,3_prime_UTR_variant,,ENST00000372038,;RALGDS,upstream_gene_variant,,ENST00000393160,NM_001042368.2;GBGT1,non_coding_transcript_exon_variant,,ENST00000472281,;GBGT1,non_coding_transcript_exon_variant,,ENST00000470431,;	C	ENST00000372040	Transcript	missense_variant	820/1980	508/1044	170/347	I/V	Atc/Gtc		1		-1	GBGT1	HGNC	HGNC:20460	protein_coding	YES	CCDS6960.1	ENSP00000361110	Q8N5D6	J7Q0Z1	UPI000013DB02	NM_021996.5,NM_001288572.1	tolerated(1)		7/7		Gene3D:3.90.550.10,Pfam_domain:PF03414,hmmpanther:PTHR10462,hmmpanther:PTHR10462:SF29,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	133154113	133154113	T	C	1	0	0	0	0	1	0	0	0	6143	1464	51	5		5	GBGT1	9	133154113	Missense_Mutation	SNP	T	C3N-00551_TP	226808	133154113	5240604	344	17023											
OBP2B	0	.	GRCh38	chr9	133208137	133208137	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggggaggggctcacaggcGctgtatttgccaggctcctc	5	9	16	11	1	1	0	1	0	0	0	3	1	2	1	2	6	1	4	2	6	1	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.273C>G	p.Ser91Arg	p.S91R	ENST00000618116	3/7	197	165	32	277	277	0	strelka-varscan-mutect	OBP2B,missense_variant,p.Ser91Arg,ENST00000618116,NM_001288987.1;OBP2B,missense_variant,p.Ser91Arg,ENST00000372032,;OBP2B,missense_variant,p.Ser91Arg,ENST00000372034,NM_014581.3;OBP2B,non_coding_transcript_exon_variant,,ENST00000461961,;OBP2B,missense_variant,p.Ser91Arg,ENST00000473737,;	C	ENST00000618116	Transcript	missense_variant	324/961	273/513	91/170	S/R	agC/agG		1		-1	OBP2B	HGNC	HGNC:23381	protein_coding	YES	CCDS6961.1	ENSP00000484615	Q9NPH6		UPI00000377BC	NM_001288987.1	tolerated(0.08)		3/7		hmmpanther:PTHR11430,hmmpanther:PTHR11430:SF6,Pfam_domain:PF00061,Gene3D:2.40.128.20,Superfamily_domains:SSF50814,Prints_domain:PR01175																	MODERATE	1	SNV	1			1										PASS		rs1299648620	.												C	3	2	53	133208137	133208137	G	C	1	0	0	0	0	1	0	0	0	10888	1101	38	4		4	OBP2B	9	133208137	Missense_Mutation	SNP	G	C3N-00551_TP	54024	133208137	5186580	345	17024											
BRD3	0	.	GRCh38	chr9	134053312	134053312	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggtagaagggccaggCgaactggtgtttccagagcg	8	7	18	8	2	0	2	0	0	0	2	1	3	1	2	2	5	2	3	2	5	3	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.166G>T	p.Ala56Ser	p.A56S	ENST00000303407	2/12	245	178	67	291	291	0	strelka-varscan-mutect	BRD3,missense_variant,p.Ala56Ser,ENST00000303407,NM_007371.3;BRD3,missense_variant,p.Ala56Ser,ENST00000371834,;BRD3,missense_variant,p.Ala56Ser,ENST00000371842,;BRD3,downstream_gene_variant,,ENST00000433041,;RP11-374P20.4,upstream_gene_variant,,ENST00000412181,;BRD3,upstream_gene_variant,,ENST00000494743,;	A	ENST00000303407	Transcript	missense_variant	352/5652	166/2181	56/726	A/S	Gcc/Tcc		1		-1	BRD3	HGNC	HGNC:1104	protein_coding	YES	CCDS6980.1	ENSP00000305918	Q15059	A0A024R8H6	UPI0000126ACD	NM_007371.3	tolerated(0.7)		2/12		Gene3D:1.20.920.10,Pfam_domain:PF00439,Prints_domain:PR00503,PROSITE_patterns:PS00633,PROSITE_profiles:PS50014,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF20,SMART_domains:SM00297,Superfamily_domains:SSF47370																	MODERATE	1	SNV	1			1										PASS		rs988329845	.												A	3	1	53	134053312	134053312	C	A	1	0	0	0	0	1	0	0	0	1673	768	27	1		1	BRD3	9	134053312	Missense_Mutation	SNP	C	C3N-00551_TP	845175	134053312	4341405	346	17025											
CAMSAP1	0	.	GRCh38	chr9	135818457	135818457	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacgactcttcccggtgCaccgacttcggccgcggctt	4	9	11	17	6	1	0	0	0	1	0	3	2	2	0	3	3	2	3	3	3	0	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.4119G>T	p.=	p.V1373V	ENST00000389532	13/17	193	136	57	232	232	0	strelka-varscan-mutect	CAMSAP1,synonymous_variant,p.=,ENST00000389532,NM_015447.3;CAMSAP1,synonymous_variant,p.=,ENST00000312405,;CAMSAP1,synonymous_variant,p.=,ENST00000409386,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000483991,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000493088,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000482664,;CAMSAP1,upstream_gene_variant,,ENST00000487868,;	A	ENST00000389532	Transcript	synonymous_variant	4184/7696	4119/4809	1373/1602	V	gtG/gtT		1		-1	CAMSAP1	HGNC	HGNC:19946	protein_coding	YES	CCDS35176.2	ENSP00000374183	Q5T5Y3		UPI0000EDA283	NM_015447.3			13/17		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF3																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	53	135818457	135818457	C	A	1	0	0	0	0	0	0	0	1	2303	697	25	2		2	CAMSAP1	9	135818457	Silent	SNP	C	C3N-00551_TP	1765145	135818457	2576260	347	17026											
SNAPC4	0	.	GRCh38	chr9	136387793	136387793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaccaggatccaagctCttggtccatcggtagatcag	10	10	10	11	1	3	2	2	0	1	2	6	3	5	3	3	3	1	2	3	3	2	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1179G>T	p.Lys393Asn	p.K393N	ENST00000298532	11/23	309	251	58	385	385	0	strelka-varscan-mutect	SNAPC4,missense_variant,p.Lys393Asn,ENST00000298532,NM_003086.2;SNAPC4,missense_variant,p.Lys393Asn,ENST00000637388,;	A	ENST00000298532	Transcript	missense_variant	1548/5010	1179/4410	393/1469	K/N	aaG/aaT		1		-1	SNAPC4	HGNC	HGNC:11137	protein_coding	YES	CCDS6998.1	ENSP00000298532	Q5SXM2	A0A024R8F4	UPI000013E4EC	NM_003086.2	deleterious(0)		11/23		Gene3D:1.10.10.60,PROSITE_profiles:PS50090,hmmpanther:PTHR10641,hmmpanther:PTHR10641:SF486,SMART_domains:SM00717,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		rs1322259710	.												A	3	1	53	136387793	136387793	C	A	1	0	0	0	0	1	0	0	0	15158	912	32	2		2	SNAPC4	9	136387793	Missense_Mutation	SNP	C	C3N-00551_TP	569336	136387793	2006924	348	17027											
CLIC3	0	.	GRCh38	chr9	136995490	136995490	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctcgatctgcagcgtgTctgtcttggcgtcgctgtca	4	13	12	12	4	4	0	1	0	3	0	7	1	5	0	1	1	2	2	1	1	0	1	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.221A>T	p.Asp74Val	p.D74V	ENST00000494426	3/6	152	123	29	138	138	0	strelka-varscan-mutect	CLIC3,missense_variant,p.Asp74Val,ENST00000494426,NM_004669.2;C9orf142,downstream_gene_variant,,ENST00000371620,NM_183241.1;CLIC3,non_coding_transcript_exon_variant,,ENST00000480181,;CLIC3,non_coding_transcript_exon_variant,,ENST00000473911,;C9orf142,downstream_gene_variant,,ENST00000498095,;C9orf142,downstream_gene_variant,,ENST00000493968,;C9orf142,downstream_gene_variant,,ENST00000481187,;C9orf142,downstream_gene_variant,,ENST00000467845,;C9orf142,downstream_gene_variant,,ENST00000483807,;C9orf142,downstream_gene_variant,,ENST00000492564,;C9orf142,downstream_gene_variant,,ENST00000463765,;	A	ENST00000494426	Transcript	missense_variant	481/1017	221/711	74/236	D/V	gAc/gTc		1		-1	CLIC3	HGNC	HGNC:2064	protein_coding	YES	CCDS7021.1	ENSP00000419378	O95833		UPI00001AE551	NM_004669.2	deleterious(0)		3/6		PROSITE_profiles:PS50405,hmmpanther:PTHR11260:SF266,hmmpanther:PTHR11260,Gene3D:3.40.30.10,Pfam_domain:PF13417,Superfamily_domains:SSF52833,Prints_domain:PR01263																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	136995490	136995490	T	A	1	0	0	0	0	1	0	0	0	3296	1667	58	4		4	CLIC3	9	136995490	Missense_Mutation	SNP	T	C3N-00551_TP	607697	136995490	1399227	349	17028											
AKR1C4	0	.	GRCh38	chr10	5213006	5213006	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttccagggtggacccaaaCtccccagttcttttggagga	8	10	10	13	0	1	0	0	0	1	0	3	3	3	3	5	4	1	1	5	4	1	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.693C>T	p.=	p.N231N	ENST00000380448	9/11	158	137	21	125	125	0	strelka-varscan-mutect	AKR1C4,synonymous_variant,p.=,ENST00000380448,;AKR1C4,synonymous_variant,p.=,ENST00000263126,NM_001818.3;	T	ENST00000380448	Transcript	synonymous_variant	946/1414	693/972	231/323	N	aaC/aaT		1		1	AKR1C4	HGNC	HGNC:387	protein_coding	YES	CCDS7064.1	ENSP00000369814	P17516		UPI000013D3B2				9/11		hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF134,Gene3D:3.20.20.100,Pfam_domain:PF00248,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	53	5213006	5213006	C	T	1	0	0	0	0	0	0	0	1	556	564	20	3		3	AKR1C4	10	5213006	Silent	SNP	C	C3N-00551_TP		5213006	128584416	350	17029											
TAF3	0	.	GRCh38	chr10	8009315	8009315	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcgtggtgactgagacGgtcagcacctacgtggtgcg	7	7	16	11	5	1	2	1	2	0	1	1	3	1	2	1	3	4	2	1	3	1	1	rs774790162		C3N-00551_TP	C3N-00551_NB	G	G																c.2553G>T	p.=	p.T851T	ENST00000344293	5/7	190	162	28	276	276	0	strelka-varscan-mutect	TAF3,synonymous_variant,p.=,ENST00000344293,NM_031923.3;	T	ENST00000344293	Transcript	synonymous_variant	2759/4872	2553/2790	851/929	T	acG/acT	rs774790162,COSM4732003	1		1	TAF3	HGNC	HGNC:17303	protein_coding	YES	CCDS41487.1	ENSP00000340271	Q5VWG9		UPI00004588FA	NM_031923.3			5/7		hmmpanther:PTHR12321,hmmpanther:PTHR12321:SF34,Superfamily_domains:SSF57903											0,1						LOW	1	SNV	2		0,1	1										PASS		rs774790162	.												T	2	4	53	8009315	8009315	G	T	1	0	0	0	0	0	0	0	1	15921	1103	39	1		1	TAF3	10	8009315	Silent	SNP	G	C3N-00551_TP	2796309	8009315	125788107	351	17030											
MYO3A	0	.	GRCh38	chr10	26128479	26128479	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttcgagcagctgtgcattAacattgcaaatgaacaaatt	14	11	7	9	1	0	1	0	1	0	0	1	2	0	1	1	0	6	4	1	0	4	4	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.2203A>T	p.Asn735Tyr	p.N735Y	ENST00000265944	20/35	300	271	29	312	312	0	strelka-varscan-mutect	MYO3A,missense_variant,p.Asn735Tyr,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;	T	ENST00000265944	Transcript	missense_variant	2369/5581	2203/4851	735/1616	N/Y	Aac/Tac		1		1	MYO3A	HGNC	HGNC:7601	protein_coding	YES	CCDS7148.1	ENSP00000265944	Q8NEV4		UPI000014140A	NM_017433.4	deleterious(0)		20/35		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF387,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	26128479	26128479	A	T	1	0	0	0	0	1	0	0	0	10077	362	13	4		4	MYO3A	10	26128479	Missense_Mutation	SNP	A	C3N-00551_TP	18119164	26128479	107668943	352	17031											
ZNF438	0	.	GRCh38	chr10	30848632	30848632	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctcagtgctgatcacaacCctatgcacttctttcagatg	9	12	8	12	0	4	2	3	1	1	1	4	2	4	2	1	1	3	3	1	1	2	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1773G>T	p.Arg591Ser	p.R591S	ENST00000442986	7/8	281	221	60	303	303	0	strelka-varscan-mutect	ZNF438,missense_variant,p.Arg581Ser,ENST00000452305,NM_001143770.1,NM_001143771.1;ZNF438,missense_variant,p.Arg542Ser,ENST00000538351,NM_001143769.1;ZNF438,missense_variant,p.Arg591Ser,ENST00000442986,NM_182755.2;ZNF438,missense_variant,p.Arg581Ser,ENST00000331737,;ZNF438,missense_variant,p.Arg591Ser,ENST00000436087,NM_001143766.1,NM_001143768.1;ZNF438,missense_variant,p.Arg591Ser,ENST00000361310,;ZNF438,missense_variant,p.Arg591Ser,ENST00000413025,NM_001143767.1;ZNF438,missense_variant,p.Arg155Ser,ENST00000375311,;ZNF438,intron_variant,,ENST00000609683,;	A	ENST00000442986	Transcript	missense_variant	2208/3245	1773/2487	591/828	R/S	agG/agT		1		-1	ZNF438	HGNC	HGNC:21029	protein_coding	YES	CCDS7168.1	ENSP00000412363	Q7Z4V0		UPI00001B3D8F	NM_182755.2	deleterious(0)		7/8		hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF291																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	53	30848632	30848632	C	A	1	0	0	0	0	1	0	0	0	18481	622	22	2		2	ZNF438	10	30848632	Missense_Mutation	SNP	C	C3N-00551_TP	4720153	30848632	102948790	353	17032											
GJD4	0	.	GRCh38	chr10	35607860	35607860	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgccccgacccccgggAgccggcctccgggcagagac	5	2	14	20	5	0	1	0	0	0	1	1	4	1	2	8	3	2	2	8	3	0	0	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.347A>T	p.Glu116Val	p.E116V	ENST00000321660	2/2	197	160	37	202	202	0	strelka-varscan-mutect	GJD4,missense_variant,p.Glu116Val,ENST00000321660,NM_153368.2;RP11-425A6.5,non_coding_transcript_exon_variant,,ENST00000609313,;RP11-425A6.5,non_coding_transcript_exon_variant,,ENST00000635993,;	T	ENST00000321660	Transcript	missense_variant	505/1580	347/1113	116/370	E/V	gAg/gTg		1		1	GJD4	HGNC	HGNC:23296	protein_coding	YES	CCDS7191.1	ENSP00000315070	Q96KN9		UPI000007118B	NM_153368.2	tolerated(0.19)		2/2		hmmpanther:PTHR11984:SF3,hmmpanther:PTHR11984,Pfam_domain:PF00029,Gene3D:2zw3A00																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	35607860	35607860	A	T	1	0	0	0	0	1	0	0	0	6296	304	11	4		4	GJD4	10	35607860	Missense_Mutation	SNP	A	C3N-00551_TP	4759228	35607860	98189562	354	17033											
ANKRD30A	0	.	GRCh38	chr10	37197413	37197413	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaccccatttagcctgcCattgaaatgcaaaagtctgt	12	11	6	12	0	1	1	0	1	1	0	2	1	2	1	5	0	4	1	5	0	5	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2481C>T	p.=	p.A827A	ENST00000361713	29/36	356	251	105	407	407	0	strelka-varscan-mutect	ANKRD30A,synonymous_variant,p.=,ENST00000374660,;ANKRD30A,synonymous_variant,p.=,ENST00000611781,;ANKRD30A,synonymous_variant,p.=,ENST00000602533,;ANKRD30A,synonymous_variant,p.=,ENST00000361713,NM_052997.2;ANKRD30A,downstream_gene_variant,,ENST00000475522,;	T	ENST00000361713	Transcript	synonymous_variant	2580/4405	2481/4026	827/1341	A	gcC/gcT		1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2			29/36		hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	53	37197413	37197413	C	T	1	0	0	0	0	0	0	0	1	761	608	21	3		3	ANKRD30A	10	37197413	Silent	SNP	C	C3N-00551_TP	1589553	37197413	96600009	355	17034											
RET	0	.	GRCh38	chr10	43119709	43119709	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatctcatttgcctggcaGatctcacaggggatgcagta	9	11	10	11	0	3	1	3	0	2	1	5	2	3	2	1	3	2	3	1	3	1	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2571G>C	p.Gln857His	p.Q857H	ENST00000355710	14/20	570	536	34	636	636	0	strelka-varscan-mutect	RET,missense_variant,p.Gln857His,ENST00000355710,NM_020975.4;RET,missense_variant,p.Asp433His,ENST00000615310,;RET,missense_variant,p.Gln857His,ENST00000340058,NM_020630.4;	C	ENST00000355710	Transcript	missense_variant	2803/5659	2571/3345	857/1114	Q/H	caG/caC		1		1	RET	HGNC	HGNC:9967	protein_coding	YES	CCDS7200.1	ENSP00000347942	P07949	A0A024R7T2	UPI00001336E1	NM_020975.4	deleterious(0)		14/20		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000631,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF345,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	53	43119709	43119709	G	C	1	0	0	0	0	1	0	0	0	13406	942	33	4		4	RET	10	43119709	Missense_Mutation	SNP	G	C3N-00551_TP	5922296	43119709	90677713	356	17035											
C10orf71	0	.	GRCh38	chr10	49325243	49325243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aattgccaaggccagaatggGgtgaggatcctgggttttgt	9	11	15	6	0	0	2	0	1	0	1	1	3	1	3	3	5	1	1	3	5	3	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2698G>T	p.Gly900Cys	p.G900C	ENST00000374144	3/3	234	219	15	266	265	1	strelka-varscan-mutect	C10orf71,missense_variant,p.Gly900Cys,ENST00000374144,NM_001135196.1;	T	ENST00000374144	Transcript	missense_variant	2986/5230	2698/4308	900/1435	G/C	Ggt/Tgt		1		1	C10orf71	HGNC	HGNC:26973	protein_coding	YES	CCDS44387.1	ENSP00000363259	Q711Q0		UPI0000161572	NM_001135196.1	deleterious(0)		3/3		hmmpanther:PTHR33775																	MODERATE	1	SNV	1			1										PASS		rs1333463581	.												T	3	4	53	49325243	49325243	G	T	1	0	0	0	0	1	0	0	0	1769	1232	43	2		2	C10orf71	10	49325243	Missense_Mutation	SNP	G	C3N-00551_TP	6205534	49325243	84472179	357	17036											
PCDH15	0	.	GRCh38	chr10	54023098	54023098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctctgttaagcttcactgCtgtgtaaatgctcccattgg	7	16	8	10	0	2	0	1	0	1	0	4	0	3	0	1	1	3	5	1	1	3	5			C3N-00551_TP	C3N-00551_NB	C	C																c.2335G>T	p.Ala779Ser	p.A779S	ENST00000373957	20/35	366	343	23	466	466	0	strelka-varscan-mutect	PCDH15,missense_variant,p.Ala779Ser,ENST00000614895,;PCDH15,missense_variant,p.Ala774Ser,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Ala774Ser,ENST00000414778,;PCDH15,missense_variant,p.Ala779Ser,ENST00000617051,;PCDH15,missense_variant,p.Ala779Ser,ENST00000373957,NM_001142763.1;PCDH15,missense_variant,p.Ala774Ser,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,missense_variant,p.Ala774Ser,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Ala752Ser,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Ala737Ser,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Ala774Ser,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Ala703Ser,ENST00000622048,;PCDH15,missense_variant,p.Ala703Ser,ENST00000437009,NM_001142765.1;PCDH15,missense_variant,p.Ala774Ser,ENST00000617271,NM_001142770.1;PCDH15,missense_variant,p.Ala786Ser,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Ala781Ser,ENST00000395445,;PCDH15,missense_variant,p.Ala774Ser,ENST00000616114,;PCDH15,missense_variant,p.Ala774Ser,ENST00000395438,;PCDH15,missense_variant,p.Ala786Ser,ENST00000612394,;PCDH15,missense_variant,p.Ala779Ser,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Ala385Ser,ENST00000409834,;PCDH15,missense_variant,p.Ala774Ser,ENST00000373955,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	A	ENST00000373957	Transcript	missense_variant	2730/7032	2335/5889	779/1962	A/S	Gca/Tca	COSM2147353,COSM2147354,COSM2147355,COSM2147356	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1	tolerated(0.24)		20/35		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		.	.												A	3	1	53	54023098	54023098	C	A	1	0	0	0	0	1	0	0	0	11598	797	28	2		2	PCDH15	10	54023098	Missense_Mutation	SNP	C	C3N-00551_TP	4697855	54023098	79774324	358	17037											
BICC1	0	.	GRCh38	chr10	58813863	58813863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttcacggtccaacagtCgtgagcacttgggaggtgga	8	9	13	11	2	1	1	1	1	0	0	3	3	2	3	2	4	2	1	2	4	1	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2410C>A	p.Arg804Ser	p.R804S	ENST00000373886	18/21	179	144	35	239	239	0	strelka-varscan-mutect	BICC1,missense_variant,p.Arg804Ser,ENST00000373886,NM_001080512.2;BICC1,missense_variant,p.Arg430Ser,ENST00000263103,;	A	ENST00000373886	Transcript	missense_variant	2414/5475	2410/2925	804/974	R/S	Cgt/Agt		1		1	BICC1	HGNC	HGNC:19351	protein_coding	YES	CCDS31206.1	ENSP00000362993	Q9H694		UPI000059D156	NM_001080512.2	deleterious(0.04)		18/21		hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF38																	MODERATE	1	SNV	2			1										PASS		rs1201651719	.												A	3	1	53	58813863	58813863	C	A	1	0	0	0	0	1	0	0	0	1576	884	31	1		1	BICC1	10	58813863	Missense_Mutation	SNP	C	C3N-00551_TP	4790765	58813863	74983559	359	17038											
LRIT1	0	.	GRCh38	chr10	84232658	84232658	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatctgggggacatgccTggccaccagcttgttgttgt	6	11	15	9	0	1	0	0	0	1	0	1	2	1	2	3	4	2	3	3	4	1	3	rs753198750		C3N-00551_TP	C3N-00551_NB	T	T																c.1141A>C	p.=	p.R381R	ENST00000372105	4/4	105	96	9	98	98	0	strelka-varscan-mutect	LRIT1,synonymous_variant,p.=,ENST00000372105,NM_015613.2;	G	ENST00000372105	Transcript	synonymous_variant	1163/2228	1141/1872	381/623	R	Agg/Cgg	rs753198750	1		-1	LRIT1	HGNC	HGNC:23404	protein_coding	YES	CCDS7373.1	ENSP00000361177	Q9P2V4		UPI000006F66C	NM_015613.2			4/4		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF9																	LOW	1	SNV	1			1										PASS		rs753198750	.												G	2	3	53	84232658	84232658	T	G	1	0	0	0	0	0	0	0	1	8842	1579	55	5		5	LRIT1	10	84232658	Silent	SNP	T	C3N-00551_TP	25418795	84232658	49564764	360	17039											
LDB3	0	.	GRCh38	chr10	86716357	86716357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacctacagcccgtccccagGggccaattacagtcccactc	9	7	7	18	1	0	0	0	0	0	0	3	0	2	0	6	2	4	0	6	2	4	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1277G>T	p.Gly426Val	p.G426V	ENST00000429277	10/14	215	153	62	219	218	1	strelka-varscan-mutect	LDB3,missense_variant,p.Gly426Val,ENST00000429277,NM_001171610.1;LDB3,missense_variant,p.Gly421Val,ENST00000361373,NM_007078.2;LDB3,missense_variant,p.Gly311Val,ENST00000263066,NM_001080114.1;LDB3,missense_variant,p.Gly426Val,ENST00000623056,;LDB3,upstream_gene_variant,,ENST00000477489,;	T	ENST00000429277	Transcript	missense_variant	1422/5436	1277/2199	426/732	G/V	gGg/gTg		1		1	LDB3	HGNC	HGNC:15710	protein_coding	YES	CCDS53550.1	ENSP00000401437	O75112		UPI00017A876A	NM_001171610.1	deleterious(0.05)		10/14		hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF9																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	53	86716357	86716357	G	T	1	0	0	0	0	1	0	0	0	8604	1232	43	2		2	LDB3	10	86716357	Missense_Mutation	SNP	G	C3N-00551_TP	2483699	86716357	47081065	361	17040											
LDB3	0	.	GRCh38	chr10	86716400	86716400	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaccccctcccctgccccTgcctacaccccctcccctgc	4	7	3	27	0	0	0	0	0	0	0	2	0	2	0	11	0	5	0	11	0	2	2	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1320T>A	p.=	p.P440P	ENST00000429277	10/14	129	89	40	107	107	0	strelka-varscan-mutect	LDB3,synonymous_variant,p.=,ENST00000429277,NM_001171610.1;LDB3,synonymous_variant,p.=,ENST00000361373,NM_007078.2;LDB3,synonymous_variant,p.=,ENST00000263066,NM_001080114.1;LDB3,synonymous_variant,p.=,ENST00000623056,;LDB3,upstream_gene_variant,,ENST00000477489,;	A	ENST00000429277	Transcript	synonymous_variant	1465/5436	1320/2199	440/732	P	ccT/ccA		1		1	LDB3	HGNC	HGNC:15710	protein_coding	YES	CCDS53550.1	ENSP00000401437	O75112		UPI00017A876A	NM_001171610.1			10/14		Low_complexity_(Seg):seg,hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF9																	LOW	1	SNV	2			1										PASS		rs1009984915	.												A	2	1	53	86716400	86716400	T	A	1	0	0	0	0	0	0	0	1	8604	1567	55	4		4	LDB3	10	86716400	Silent	SNP	T	C3N-00551_TP	43	86716400	47081022	362	17041											
DNTT	0	.	GRCh38	chr10	96304586	96304586	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcctctcctcaagacaTcaaatttcaagatttggtcg	10	12	7	12	1	4	2	3	0	1	2	7	2	5	2	3	2	0	0	3	2	3	2	rs142422958		C3N-00551_TP	C3N-00551_NB	T	T																c.89T>A	p.Ile30Asn	p.I30N	ENST00000371174	1/11	359	316	43	381	381	0	strelka-varscan-mutect	DNTT,missense_variant,p.Ile30Asn,ENST00000371174,NM_004088.3;DNTT,missense_variant,p.Ile30Asn,ENST00000630152,NM_001017520.1;RP11-35J23.1,intron_variant,,ENST00000454484,;	A	ENST00000371174	Transcript	missense_variant	191/1972	89/1530	30/509	I/N	aTc/aAc	rs142422958	1		1	DNTT	HGNC	HGNC:2983	protein_coding	YES	CCDS7447.1	ENSP00000360216	P04053		UPI000013C84B	NM_004088.3	deleterious(0.05)		1/11		PIRSF_domain:PIRSF000817,PIRSF_domain:PIRSF501175,PROSITE_profiles:PS50172,hmmpanther:PTHR11276,hmmpanther:PTHR11276:SF21,SMART_domains:SM00292																	MODERATE	1	SNV	1			1										PASS		rs142422958	.												A	3	1	53	96304586	96304586	T	A	1	0	0	0	0	1	0	0	0	4494	1435	50	4		4	DNTT	10	96304586	Missense_Mutation	SNP	T	C3N-00551_TP	9588186	96304586	37492836	363	17042											
HPSE2	0	.	GRCh38	chr10	99232449	99232449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagtcggtccttttgcccCcgaagcgcagaaaggcgggc	8	6	15	12	4	0	1	0	0	0	1	2	3	1	2	3	4	2	1	3	4	3	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.347G>A	p.Gly116Glu	p.G116E	ENST00000370552	2/12	333	309	24	342	342	0	strelka-varscan-mutect	HPSE2,missense_variant,p.Gly116Glu,ENST00000370552,NM_021828.4;HPSE2,missense_variant,p.Gly116Glu,ENST00000370549,NM_001166244.1;HPSE2,missense_variant,p.Gly116Glu,ENST00000370546,NM_001166246.1;HPSE2,missense_variant,p.Gly116Glu,ENST00000628193,NM_001166245.1;HPSE2,missense_variant,p.Gly116Glu,ENST00000614306,;	T	ENST00000370552	Transcript	missense_variant	407/2295	347/1779	116/592	G/E	gGg/gAg		1		-1	HPSE2	HGNC	HGNC:18374	protein_coding	YES	CCDS7477.1	ENSP00000359583	Q8WWQ2		UPI00001AEEC0	NM_021828.4	deleterious(0.02)		2/12		hmmpanther:PTHR14363,hmmpanther:PTHR14363:SF15,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	99232449	99232449	C	T	1	0	0	0	0	1	0	0	0	7240	623	22	3		3	HPSE2	10	99232449	Missense_Mutation	SNP	C	C3N-00551_TP	2927863	99232449	34564973	364	17043											
NFKB2	0	.	GRCh38	chr10	102399395	102399396	+	Frame_Shift_Ins	INS	-	-	C																															gggcggggcgcagatggccgINSccacggtgcccagcagggac																								novel		C3N-00551_TP	C3N-00551_NB	-	-																c.1227dupC	p.Thr410HisfsTer96	p.T410Hfs*96	ENST00000369966	13/23	79	70	9	110	110	0	sindel-varindel	NFKB2,frameshift_variant,p.Thr410HisfsTer96,ENST00000428099,NM_001288724.1;NFKB2,frameshift_variant,p.Thr410HisfsTer96,ENST00000369966,NM_001077494.3;NFKB2,frameshift_variant,p.Thr410HisfsTer96,ENST00000189444,NM_001322934.1,NM_001261403.2,NM_002502.5;PSD,downstream_gene_variant,,ENST00000020673,NM_002779.4;PSD,downstream_gene_variant,,ENST00000406432,NM_001270965.1;PSD,downstream_gene_variant,,ENST00000611678,NM_001270966.1;NFKB2,downstream_gene_variant,,ENST00000601386,;NFKB2,downstream_gene_variant,,ENST00000471698,;NFKB2,non_coding_transcript_exon_variant,,ENST00000336486,;NFKB2,downstream_gene_variant,,ENST00000593908,;NFKB2,downstream_gene_variant,,ENST00000467116,;NFKB2,upstream_gene_variant,,ENST00000473400,;	C	ENST00000369966	Transcript	frameshift_variant	1475-1476/3101	1225-1226/2703	409/900	A/AX	gcc/gCcc		1		1	NFKB2	HGNC	HGNC:7795	protein_coding	YES	CCDS41564.1	ENSP00000358983	Q00653		UPI000016A5CD	NM_001077494.3			13/23		Low_complexity_(Seg):seg																	HIGH	1	insertion	1	2		1										PASS		.	.												C	7	5	53	102399395	102399395	-	C	1	0	1	1	0	0	0	0	0	10413	1087	38	0		0	NFKB2	10	102399395	Frame_Shift_Ins	INS	-	C3N-00551_TP	3166946	102399395	31398027	365	17044											
CUEDC2	0	.	GRCh38	chr10	102423432	102423432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccggcgagtgcctcaatgGaagcggtactttctggctgg	6	10	15	10	3	2	0	1	0	1	0	3	2	3	1	2	5	3	2	2	5	3	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.858C>A	p.Phe286Leu	p.F286L	ENST00000369937	9/9	159	143	16	176	176	0	strelka-varscan-mutect	CUEDC2,missense_variant,p.Phe286Leu,ENST00000369937,NM_024040.2;PSD,upstream_gene_variant,,ENST00000020673,NM_002779.4;PSD,upstream_gene_variant,,ENST00000406432,NM_001270965.1;PSD,upstream_gene_variant,,ENST00000611678,NM_001270966.1;FBXL15,downstream_gene_variant,,ENST00000224862,NM_024326.3;FBXL15,downstream_gene_variant,,ENST00000369956,;FBXL15,downstream_gene_variant,,ENST00000432590,;FBXL15,downstream_gene_variant,,ENST00000440407,;FBXL15,downstream_gene_variant,,ENST00000425536,;FBXL15,downstream_gene_variant,,ENST00000457067,;CUEDC2,non_coding_transcript_exon_variant,,ENST00000465409,;PSD,upstream_gene_variant,,ENST00000492902,;FBXL15,downstream_gene_variant,,ENST00000481808,;CUEDC2,downstream_gene_variant,,ENST00000477994,;PSD,upstream_gene_variant,,ENST00000472685,;CUEDC2,downstream_gene_variant,,ENST00000486762,;	T	ENST00000369937	Transcript	missense_variant	1004/1191	858/864	286/287	F/L	ttC/ttA		1		-1	CUEDC2	HGNC	HGNC:28352	protein_coding	YES	CCDS41566.1	ENSP00000358953	Q9H467		UPI000006EFB6	NM_024040.2	tolerated(0.07)		9/9		hmmpanther:PTHR12493																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	102423432	102423432	G	T	1	0	0	0	0	1	0	0	0	3863	1165	41	2		2	CUEDC2	10	102423432	Missense_Mutation	SNP	G	C3N-00551_TP	24037	102423432	31373990	366	17045											
NEURL1	0	.	GRCh38	chr10	103571644	103571644	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctgggccaaggcgctGcctgaggagtttgccaatga	7	9	15	10	1	1	2	0	2	1	0	1	3	1	3	3	4	2	3	3	4	2	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.471G>T	p.=	p.L157L	ENST00000369780	3/6	352	290	62	415	415	0	strelka-varscan-mutect	NEURL1,synonymous_variant,p.=,ENST00000369780,NM_004210.4;NEURL1,synonymous_variant,p.=,ENST00000437579,;NEURL1,synonymous_variant,p.=,ENST00000455386,;NEURL1,upstream_gene_variant,,ENST00000465048,;	T	ENST00000369780	Transcript	synonymous_variant	880/4314	471/1725	157/574	L	ctG/ctT		1		1	NEURL1	HGNC	HGNC:7761	protein_coding	YES	CCDS7551.1	ENSP00000358795	O76050		UPI0000073F46	NM_004210.4			3/6		PROSITE_profiles:PS51065,hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF13,SMART_domains:SM00588																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	103571644	103571644	G	T	1	0	0	0	0	0	0	0	1	10380	1306	46	2		2	NEURL1	10	103571644	Silent	SNP	G	C3N-00551_TP	1148212	103571644	30225778	367	17046											
SORCS3	0	.	GRCh38	chr10	105216978	105216978	+	Frame_Shift_Del	DEL	G	G	-																															tccagcttgactttggggatGggattgctgtgtcctacgca																								novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2592delG	p.Ile865LeufsTer27	p.I865Lfs*27	ENST00000369701	19/27	179	169	10	244	244	0	varindel-pindel	SORCS3,frameshift_variant,p.Ile865LeufsTer27,ENST00000369701,NM_014978.2;SORCS3,frameshift_variant,p.Ile865LeufsTer27,ENST00000369699,;	-	ENST00000369701	Transcript	frameshift_variant	2817/5757	2590/3669	864/1222	G/X	Ggg/gg		1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2			19/27		Gene3D:2.60.40.670,Pfam_domain:PF00801,PROSITE_profiles:PS50093,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,Superfamily_domains:SSF49299																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	53	105216978	105216978	G	-	1	0	1	0	1	0	0	0	0	15254	1348	47	0		0	SORCS3	10	105216978	Frame_Shift_Del	DEL	G	C3N-00551_TP	1645334	105216978	28580444	368	17047											
SORCS1	0	.	GRCh38	chr10	106675048	106675048	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcatacttttcaacttaCgtcatgatgagagtctcttc	11	15	5	10	1	4	2	3	2	1	1	6	3	4	2	0	0	3	0	0	0	3	5			C3N-00551_TP	C3N-00551_NB	C	C																c.1940+1G>A		p.X647_splice	ENST00000263054		125	114	11	134	134	0	strelka-varscan-mutect	SORCS1,splice_donor_variant,,ENST00000263054,NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1;SORCS1,splice_donor_variant,,ENST00000612154,;SORCS1,splice_donor_variant,,ENST00000622431,;SORCS1,splice_donor_variant,,ENST00000344440,;SORCS1,splice_donor_variant,,ENST00000369698,;SORCS1,splice_donor_variant,,ENST00000472196,;	T	ENST00000263054	Transcript	splice_donor_variant	-/7272	1940/3507	647/1168			COSM4729042,COSM4729043	1		-1	SORCS1	HGNC	HGNC:16697	protein_coding	YES	CCDS7559.1	ENSP00000263054	Q8WY21		UPI00001AE866	NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1				14/25												1,1						HIGH	1	SNV	1		1,1	1										PASS		rs1447669165	.												T	5	4	53	106675048	106675048	C	T	1	0	0	0	0	0	0	1	0	15252	550	19	1		1	SORCS1	10	106675048	Splice_Site	SNP	C	C3N-00551_TP	1458070	106675048	27122374	369	17048											
PLEKHS1	0	.	GRCh38	chr10	113768864	113768864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcatcatttcgccaggatAtaaaagcaacacagcagaac	16	8	7	10	1	2	1	2	0	0	1	3	2	2	2	1	1	4	2	1	1	5	3	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.391A>G	p.Ile131Val	p.I131V	ENST00000369310	5/12	125	102	23	154	154	0	strelka-varscan-mutect	PLEKHS1,missense_variant,p.Ile49Val,ENST00000369312,NM_001193434.1;PLEKHS1,missense_variant,p.Ile137Val,ENST00000361048,NM_024889.4;PLEKHS1,missense_variant,p.Ile49Val,ENST00000619563,NM_001193435.1;PLEKHS1,missense_variant,p.Ile131Val,ENST00000369310,NM_182601.1;PLEKHS1,upstream_gene_variant,,ENST00000354462,;PLEKHS1,upstream_gene_variant,,ENST00000369309,;	G	ENST00000369310	Transcript	missense_variant	953/2046	391/1398	131/465	I/V	Ata/Gta		1		1	PLEKHS1	HGNC	HGNC:26285	protein_coding	YES	CCDS53580.1	ENSP00000358316	Q5SXH7		UPI000047020C	NM_182601.1	tolerated(0.39)		5/12		hmmpanther:PTHR12156:SF19,hmmpanther:PTHR12156,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	113768864	113768864	A	G	1	0	0	0	0	1	0	0	0	12179	449	16	5		5	PLEKHS1	10	113768864	Missense_Mutation	SNP	A	C3N-00551_TP	7093816	113768864	20028558	370	17049											
VWA2	0	.	GRCh38	chr10	114286190	114286190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgatggcattcccttccgtGgtggccccaccctgacgggc	4	9	12	16	3	0	1	0	1	0	0	3	2	2	1	5	4	0	1	5	4	0	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1249G>T	p.Gly417Cys	p.G417C	ENST00000392982	11/14	171	157	14	170	170	0	strelka-varscan-mutect	VWA2,missense_variant,p.Gly417Cys,ENST00000392982,NM_001272046.1;VWA2,missense_variant,p.Gly113Cys,ENST00000603594,;CTB-1144G6.6,upstream_gene_variant,,ENST00000622689,;VWA2,non_coding_transcript_exon_variant,,ENST00000298715,;	T	ENST00000392982	Transcript	missense_variant	1499/2794	1249/2268	417/755	G/C	Ggt/Tgt		1		1	VWA2	HGNC	HGNC:24709	protein_coding	YES	CCDS7589.2	ENSP00000376708	Q5GFL6		UPI00004C7AA3	NM_001272046.1	deleterious(0)		11/14		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF117,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	114286190	114286190	G	T	1	0	0	0	0	1	0	0	0	17793	1348	47	2		2	VWA2	10	114286190	Missense_Mutation	SNP	G	C3N-00551_TP	517326	114286190	19511232	371	17050											
HSPA12A	0	.	GRCh38	chr10	116674856	116674856	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggctgtggctttgatctcGgtgtccccgaactgcataag	7	12	12	10	2	1	1	0	1	1	0	3	2	2	1	2	3	2	3	2	3	2	2	rs782209908		C3N-00551_TP	C3N-00551_NB	G	G																c.1953C>A	p.=	p.T651T	ENST00000369209	12/12	295	272	23	257	257	0	strelka-varscan-mutect	HSPA12A,synonymous_variant,p.=,ENST00000635765,;HSPA12A,synonymous_variant,p.=,ENST00000369209,NM_025015.2;C10orf82,upstream_gene_variant,,ENST00000369210,NM_144661.2;C10orf82,upstream_gene_variant,,ENST00000588184,;RP11-498B4.5,downstream_gene_variant,,ENST00000433600,;C10orf82,upstream_gene_variant,,ENST00000588224,;C10orf82,upstream_gene_variant,,ENST00000467153,;	T	ENST00000369209	Transcript	synonymous_variant	2058/5722	1953/2028	651/675	T	acC/acA	rs782209908,COSM5497988	1		-1	HSPA12A	HGNC	HGNC:19022	protein_coding	YES	CCDS41569.1	ENSP00000358211	O43301		UPI00001B3DE3	NM_025015.2			12/12		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF46											0,1						LOW	1	SNV	1		0,1	1										PASS		rs782209908	.												T	2	4	53	116674856	116674856	G	T	1	0	0	0	0	0	0	0	1	7300	1103	39	1		1	HSPA12A	10	116674856	Silent	SNP	G	C3N-00551_TP	2388666	116674856	17122566	372	17051											
UROS	0	.	GRCh38	chr10	125815100	125815100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctggggctggtaaaaaTgagtcccccgtaatcttcag	9	11	11	10	1	3	1	1	1	2	0	4	1	4	1	2	3	1	4	2	3	4	3	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.178A>G	p.Ile60Val	p.I60V	ENST00000368797	4/10	638	592	46	759	759	0	strelka-varscan-mutect	UROS,missense_variant,p.Ile60Val,ENST00000368778,NM_001324039.1;UROS,missense_variant,p.Ile60Val,ENST00000368797,NM_000375.2;UROS,missense_variant,p.Ile60Val,ENST00000368786,;UROS,missense_variant,p.Ile32Val,ENST00000420761,;UROS,missense_variant,p.Ile60Val,ENST00000368774,;MIR4484,upstream_gene_variant,,ENST00000582855,;	C	ENST00000368797	Transcript	missense_variant	403/1313	178/798	60/265	I/V	Att/Gtt		1		-1	UROS	HGNC	HGNC:12592	protein_coding	YES	CCDS7648.1	ENSP00000357787	P10746	A0A0S2Z4T8	UPI000012C4A4	NM_000375.2	tolerated(0.34)		4/10		Gene3D:3.40.50.10090,Pfam_domain:PF02602,hmmpanther:PTHR12390,Superfamily_domains:SSF69618																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	125815100	125815100	T	C	1	0	0	0	0	1	0	0	0	17562	1464	51	5		5	UROS	10	125815100	Missense_Mutation	SNP	T	C3N-00551_TP	9140244	125815100	7982322	373	17052											
C10orf90	0	.	GRCh38	chr10	126504937	126504937	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactccgctgcggttagccAgagattgcttggcgtgatgt	6	12	14	9	3	0	3	0	2	0	1	1	4	1	3	2	2	3	3	2	2	1	3	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.263T>A	p.Leu88Gln	p.L88Q	ENST00000284694	3/9	156	144	12	252	252	0	strelka-varscan-mutect	C10orf90,missense_variant,p.Leu88Gln,ENST00000284694,NM_001004298.2;C10orf90,missense_variant,p.Leu41Gln,ENST00000356858,;C10orf90,missense_variant,p.Leu88Gln,ENST00000432642,;C10orf90,missense_variant,p.Leu41Gln,ENST00000488181,;C10orf90,upstream_gene_variant,,ENST00000424927,;C10orf90,non_coding_transcript_exon_variant,,ENST00000368674,;C10orf90,3_prime_UTR_variant,,ENST00000463082,;	T	ENST00000284694	Transcript	missense_variant	384/3076	263/2100	88/699	L/Q	cTg/cAg		1		-1	C10orf90	HGNC	HGNC:26563	protein_coding	YES	CCDS31310.1	ENSP00000284694	Q96M02		UPI00001D808F	NM_001004298.2	deleterious(0.02)		3/9		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	126504937	126504937	A	T	1	0	0	0	0	1	0	0	0	1773	188	7	4		4	C10orf90	10	126504937	Missense_Mutation	SNP	A	C3N-00551_TP	689837	126504937	7292485	374	17053											
KNDC1	0	.	GRCh38	chr10	133186598	133186598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaccctcgagatgctagcgGtgaagcccagactcccaggg	10	5	13	13	2	0	4	0	1	0	3	2	5	1	4	3	2	3	1	3	2	2	1	rs556311295		C3N-00551_TP	C3N-00551_NB	G	G																c.1250G>T	p.Gly417Val	p.G417V	ENST00000304613	6/30	110	86	24	177	177	0	strelka-varscan-mutect	KNDC1,missense_variant,p.Gly417Val,ENST00000304613,NM_152643.6;KNDC1,missense_variant,p.Gly352Val,ENST00000368571,;	T	ENST00000304613	Transcript	missense_variant	1271/6793	1250/5250	417/1749	G/V	gGt/gTt	rs556311295	1		1	KNDC1	HGNC	HGNC:29374	protein_coding	YES	CCDS7674.1	ENSP00000304437	Q76NI1		UPI00003529F7	NM_152643.6	tolerated(0.29)		6/30		hmmpanther:PTHR21560,hmmpanther:PTHR21560:SF0																	MODERATE	1	SNV	2			1										PASS		rs556311295	.												T	3	4	53	133186598	133186598	G	T	1	0	0	0	0	1	0	0	0	8304	1261	44	2		2	KNDC1	10	133186598	Missense_Mutation	SNP	G	C3N-00551_TP	6681661	133186598	610824	375	17054											
KRTAP5-4	0	.	GRCh38	chr11	1621755	1621755	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccccttggaacccccacaGgagccacagccccccttgga	8	4	8	21	0	0	0	0	0	0	0	0	3	0	3	9	3	3	0	9	3	1	2			C3N-00551_TP	C3N-00551_NB	G	G																c.339C>T	p.=	p.S113S	ENST00000399682	1/1	185	174	11	218	216	2	varscan-mutect	KRTAP5-4,synonymous_variant,p.=,ENST00000399682,;KRTAP5-4,synonymous_variant,p.=,ENST00000616115,;	A	ENST00000399682	Transcript	synonymous_variant	384/1181	339/687	113/228	S	tcC/tcT	COSM3445727	1		-1	KRTAP5-4	HGNC	HGNC:23599	protein_coding	YES		ENSP00000382590		A8MUN0	UPI0000E592E4				1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262											1						LOW	1	SNV			1	1										PASS		.	.												A	2	1	53	1621755	1621755	G	A	1	0	0	0	0	0	0	0	1	8458	987	35	3		3	KRTAP5-4	11	1621755	Silent	SNP	G	C3N-00551_TP		1621755	133464867	376	17055											
OR51H1	0	.	GRCh38	chr11	4860291	4860291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcatcaaaaacaatctgagGggcattaaaccagtagatgc	16	8	9	8	0	2	2	1	1	1	1	2	2	2	2	1	2	4	3	1	2	6	2	rs542973543		C3N-00551_TP	C3N-00551_NB	G	G																c.274C>A	p.Pro92Thr	p.P92T	ENST00000322059	1/1	105	82	23	198	198	0	strelka-varscan-mutect	OR51H1,missense_variant,p.Pro92Thr,ENST00000322059,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	T	ENST00000322059	Transcript	missense_variant	274/909	274/909	92/302	P/T	Cct/Act	rs542973543	1		-1	OR51H1	HGNC	HGNC:14833	protein_coding	YES		ENSP00000322724	Q8NH63	A0A126GVH7	UPI0000061F03		tolerated(0.21)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF53,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs542973543	.												T	3	4	53	4860291	4860291	G	T	1	0	0	0	0	1	0	0	0	11172	1232	43	2		2	OR51H1	11	4860291	Missense_Mutation	SNP	G	C3N-00551_TP	3238536	4860291	130226331	377	17056											
OR51V1	0	.	GRCh38	chr11	5200606	5200606	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggaaagccaggggtatTgctgctccatgccagaaaat	12	8	13	8	0	0	1	0	0	0	1	1	3	1	3	3	4	4	3	3	4	4	2	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.95A>G	p.Gln32Arg	p.Q32R	ENST00000321255	1/1	96	83	13	120	120	0	strelka-varscan-mutect	OR51V1,missense_variant,p.Gln32Arg,ENST00000321255,NM_001004760.2;AC104389.16,upstream_gene_variant,,ENST00000418080,;	C	ENST00000321255	Transcript	missense_variant	95/966	95/966	32/321	Q/R	cAa/cGa		1		-1	OR51V1	HGNC	HGNC:19597	protein_coding	YES	CCDS31375.1	ENSP00000321729	Q9H2C8		UPI0000140ADA	NM_001004760.2	tolerated(0.34)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF67,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												C	3	2	53	5200606	5200606	T	C	1	0	0	0	0	1	0	0	0	11181	1812	63	5		5	OR51V1	11	5200606	Missense_Mutation	SNP	T	C3N-00551_TP	340315	5200606	129886016	378	17057											
PPFIBP2	0	.	GRCh38	chr11	7639853	7639853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctgacgccacggggaGcagcctgctgaggctgagtg	7	5	16	13	2	0	3	0	3	0	0	0	4	0	4	4	3	4	3	4	3	0	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1358G>A	p.Ser453Asn	p.S453N	ENST00000299492	15/24	70	63	7	100	100	0	strelka-varscan-mutect	PPFIBP2,missense_variant,p.Ser453Asn,ENST00000299492,NM_003621.3;PPFIBP2,missense_variant,p.Ser295Asn,ENST00000533792,;PPFIBP2,missense_variant,p.Ser310Asn,ENST00000530181,NM_001256569.1;PPFIBP2,missense_variant,p.Ser341Asn,ENST00000528883,NM_001256568.1;PPFIBP2,missense_variant,p.Ser133Asn,ENST00000534409,;PPFIBP2,missense_variant,p.Ser97Asn,ENST00000530081,;PPFIBP2,non_coding_transcript_exon_variant,,ENST00000530582,;PPFIBP2,intron_variant,,ENST00000532926,;PPFIBP2,intron_variant,,ENST00000529021,;PPFIBP2,upstream_gene_variant,,ENST00000524495,;PPFIBP2,non_coding_transcript_exon_variant,,ENST00000532172,;PPFIBP2,downstream_gene_variant,,ENST00000532381,;	A	ENST00000299492	Transcript	missense_variant	1746/3557	1358/2631	453/876	S/N	aGc/aAc		1		1	PPFIBP2	HGNC	HGNC:9250	protein_coding	YES	CCDS31419.1	ENSP00000299492	Q8ND30		UPI00001C1EF8	NM_003621.3	tolerated(0.53)		15/24		hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	7639853	7639853	G	A	1	0	0	0	0	1	0	0	0	12423	971	34	3		3	PPFIBP2	11	7639853	Missense_Mutation	SNP	G	C3N-00551_TP	2439247	7639853	127446769	379	17058											
STK33	0	.	GRCh38	chr11	8454743	8454743	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taccaccattgctaatcttaCctttatgtttaagtttattt	10	20	3	8	0	1	0	0	0	1	0	1	0	1	0	3	0	3	3	3	0	6	11	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.786+1G>T		p.X262_splice	ENST00000447869		51	43	8	97	97	0	strelka-varscan-mutect	STK33,splice_donor_variant,,ENST00000447869,;STK33,splice_donor_variant,,ENST00000315204,NM_030906.3;STK33,splice_donor_variant,,ENST00000396672,NM_001289061.1;STK33,splice_donor_variant,,ENST00000358872,NM_001289059.1;STK33,splice_donor_variant,,ENST00000534493,NM_001289058.1;STK33,splice_donor_variant,,ENST00000444064,;STK33,splice_donor_variant,,ENST00000524760,;STK33,downstream_gene_variant,,ENST00000418597,;STK33,downstream_gene_variant,,ENST00000422559,;STK33,intron_variant,,ENST00000526517,;STK33,upstream_gene_variant,,ENST00000473980,;STK33,splice_donor_variant,,ENST00000486305,;	A	ENST00000447869	Transcript	splice_donor_variant	-/3103	786/1545	262/514				1		-1	STK33	HGNC	HGNC:14568	protein_coding	YES	CCDS7789.1	ENSP00000416750	Q9BYT3		UPI000004496E					6/11																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	53	8454743	8454743	C	A	1	0	0	0	0	0	0	1	0	15677	521	18	2		2	STK33	11	8454743	Splice_Site	SNP	C	C3N-00551_TP	814890	8454743	126631879	380	17059											
MYOD1	0	.	GRCh38	chr11	17720323	17720323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcagccgccttctatgcgCcgggcccgctgcccccgggc	2	5	13	21	6	1	0	0	0	1	0	1	0	1	0	7	2	3	2	7	2	1	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.541C>G	p.Pro181Ala	p.P181A	ENST00000250003	1/3	117	110	7	188	188	0	strelka-mutect	MYOD1,missense_variant,p.Pro181Ala,ENST00000250003,NM_002478.4;	G	ENST00000250003	Transcript	missense_variant	756/1801	541/963	181/320	P/A	Ccg/Gcg		1		1	MYOD1	HGNC	HGNC:7611	protein_coding	YES	CCDS7826.1	ENSP00000250003	P15172		UPI000007280C	NM_002478.4	deleterious(0.02)		1/3		hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	17720323	17720323	C	G	1	0	0	0	0	1	0	0	0	10089	739	26	4		4	MYOD1	11	17720323	Missense_Mutation	SNP	C	C3N-00551_TP	9265580	17720323	117366299	381	17060											
TPH1	0	.	GRCh38	chr11	18022803	18022803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatatactgtacctcatCttctcctttgcatcttcaaa	11	15	4	11	0	5	1	2	0	3	1	6	2	5	1	2	0	3	2	2	0	5	6	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1155G>T	p.Lys385Asn	p.K385N	ENST00000250018	9/10	356	323	33	457	457	0	strelka-varscan-mutect	TPH1,missense_variant,p.Lys385Asn,ENST00000250018,NM_004179.2;RP1-59M18.2,non_coding_transcript_exon_variant,,ENST00000525523,;TPH1,non_coding_transcript_exon_variant,,ENST00000525406,;TPH1,3_prime_UTR_variant,,ENST00000417164,;	A	ENST00000250018	Transcript	missense_variant	1718/5325	1155/1335	385/444	K/N	aaG/aaT		1		-1	TPH1	HGNC	HGNC:12008	protein_coding	YES	CCDS7829.1	ENSP00000250018	P17752		UPI000013CC9C	NM_004179.2	deleterious(0)		9/10		PROSITE_profiles:PS51410,hmmpanther:PTHR11473:SF23,hmmpanther:PTHR11473,Pfam_domain:PF00351,Gene3D:1.10.800.10,TIGRFAM_domain:TIGR01270,PIRSF_domain:PIRSF000336,Superfamily_domains:SSF56534																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	18022803	18022803	C	A	1	0	0	0	0	1	0	0	0	16882	927	32	2		2	TPH1	11	18022803	Missense_Mutation	SNP	C	C3N-00551_TP	302480	18022803	117063819	382	17061											
SLC6A5	0	.	GRCh38	chr11	20654760	20654760	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggactggggcccattcttAgctcaacaccgcggggagcg	7	6	14	14	4	2	0	1	0	1	0	2	2	2	2	3	5	3	1	3	5	2	2	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.2286A>T	p.Leu762Phe	p.L762F	ENST00000525748	16/16	445	408	37	509	509	0	strelka-varscan-mutect	SLC6A5,missense_variant,p.Leu762Phe,ENST00000525748,NM_004211.3;SLC6A5,non_coding_transcript_exon_variant,,ENST00000528440,;SLC6A5,3_prime_UTR_variant,,ENST00000298923,;	T	ENST00000525748	Transcript	missense_variant	2559/7084	2286/2394	762/797	L/F	ttA/ttT		1		1	SLC6A5	HGNC	HGNC:11051	protein_coding	YES	CCDS7854.1	ENSP00000434364	Q9Y345		UPI00004564A5	NM_004211.3	deleterious(0)		16/16		hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF158																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	20654760	20654760	A	T	1	0	0	0	0	1	0	0	0	14970	417	15	4		4	SLC6A5	11	20654760	Missense_Mutation	SNP	A	C3N-00551_TP	2631957	20654760	114431862	383	17062											
KIAA1549L	0	.	GRCh38	chr11	33606816	33606816	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtcatcggcagtcctcaaCggcgaggtaagtgcctggag	9	7	15	10	3	2	0	2	0	0	0	4	3	3	1	2	4	2	2	2	4	2	1	rs375293606		C3N-00551_TP	C3N-00551_NB	C	C																c.4164C>T	p.=	p.N1388N	ENST00000321505	13/20	80	73	7	95	95	0	strelka-varscan-mutect	KIAA1549L,synonymous_variant,p.=,ENST00000321505,NM_012194.2;KIAA1549L,synonymous_variant,p.=,ENST00000526400,;	T	ENST00000321505	Transcript	synonymous_variant	4344/11678	4164/5550	1388/1849	N	aaC/aaT	rs375293606,COSM256431	1		1	KIAA1549L	HGNC	HGNC:24836	protein_coding	YES	CCDS44565.2	ENSP00000315295	Q6ZVL6		UPI0000E59322	NM_012194.2			13/20		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3,Pfam_domain:PF12877											0,1						LOW	1	SNV	1		0,1	1										PASS		rs375293606	.												T	2	4	53	33606816	33606816	C	T	1	0	0	0	0	0	0	0	1	8121	535	19	1		1	KIAA1549L	11	33606816	Silent	SNP	C	C3N-00551_TP	12952056	33606816	101479806	384	17063											
OR4C13	0	.	GRCh38	chr11	49953129	49953129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggcacgaagccctctCtacctgtgtctcccacatca	9	8	8	16	1	3	0	1	0	2	0	5	1	3	0	3	2	2	2	3	2	3	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.707C>A	p.Ser236Tyr	p.S236Y	ENST00000555099	1/1	164	154	10	198	197	1	strelka-varscan-mutect	OR4C13,missense_variant,p.Ser236Tyr,ENST00000555099,NM_001001955.2;	A	ENST00000555099	Transcript	missense_variant	739/1029	707/930	236/309	S/Y	tCt/tAt		1		1	OR4C13	HGNC	HGNC:15169	protein_coding	YES	CCDS31495.1	ENSP00000452277	Q8NGP0		UPI000013F7D1	NM_001001955.2	deleterious_low_confidence(0.03)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF60,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	53	49953129	49953129	C	A	1	0	0	0	0	1	0	0	0	11124	913	32	2		2	OR4C13	11	49953129	Missense_Mutation	SNP	C	C3N-00551_TP	16346313	49953129	85133493	385	17064											
OR5D18	0	.	GRCh38	chr11	55820381	55820381	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgactgccatcaccaTcttccatggcaccatcctct	8	10	4	19	0	3	1	1	1	2	0	5	1	5	1	7	1	1	1	7	1	0	1	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.752T>A	p.Ile251Asn	p.I251N	ENST00000333976	1/1	194	173	21	187	187	0	strelka-varscan-mutect	OR5D18,missense_variant,p.Ile251Asn,ENST00000333976,NM_001001952.1;	A	ENST00000333976	Transcript	missense_variant	752/942	752/942	251/313	I/N	aTc/aAc		1		1	OR5D18	HGNC	HGNC:15285	protein_coding	YES	CCDS31510.1	ENSP00000335025	Q8NGL1		UPI0000046197	NM_001001952.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	53	55820381	55820381	T	A	1	0	0	0	0	1	0	0	0	11227	1435	50	4		4	OR5D18	11	55820381	Missense_Mutation	SNP	T	C3N-00551_TP	5867252	55820381	79266241	386	17065											
OR5F1	0	.	GRCh38	chr11	55994203	55994203	+	Silent	SNP	G	G	A																															gccccggctgccatttttagGtagacggtcctggacatgat																								novel		C3N-00551_TP	C3N-00551_NB	G	G																c.423C>T	p.=	p.Y141Y	ENST00000278409	1/1	165	141	24	195	195	0	strelka-mutect	OR5F1,synonymous_variant,p.=,ENST00000278409,NM_003697.1;	A	ENST00000278409	Transcript	synonymous_variant	423/945	423/945	141/314	Y	taC/taT		1		-1	OR5F1	HGNC	HGNC:8343	protein_coding	YES	CCDS31515.1	ENSP00000278409	O95221		UPI0000041D19	NM_003697.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF168,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	LOW	1	SNV				1										PASS		.	.												A	2	1	53	55994203	55994203	G	A	1	0	0	0	0	0	0	0	1	11228	1256	44	3		3	OR5F1	11	55994203	Silent	SNP	G	C3N-00551_TP	173822	55994203	79092419	387	17066	367	2									
OR5F1	0	.	GRCh38	chr11	55994205	55994205	+	Missense_Mutation	SNP	A	A	G																															cccggctgccatttttaggtAgacggtcctggacatgatca																								novel		C3N-00551_TP	C3N-00551_NB	A	A																c.421T>C	p.Tyr141His	p.Y141H	ENST00000278409	1/1	159	136	23	194	194	0	strelka-mutect	OR5F1,missense_variant,p.Tyr141His,ENST00000278409,NM_003697.1;	G	ENST00000278409	Transcript	missense_variant	421/945	421/945	141/314	Y/H	Tac/Cac		1		-1	OR5F1	HGNC	HGNC:8343	protein_coding	YES	CCDS31515.1	ENSP00000278409	O95221		UPI0000041D19	NM_003697.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF168,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	53	55994205	55994205	A	G	1	0	0	0	0	1	0	0	0	11228	420	15	5		5	OR5F1	11	55994205	Missense_Mutation	SNP	A	C3N-00551_TP	2	55994205	79092417	388	17067	367	2									
OR5M3	0	.	GRCh38	chr11	56469957	56469957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaggccattttgatgagagGtggatctgcacagtagaaat	13	10	12	6	0	1	3	0	2	1	2	1	5	1	4	1	3	1	2	1	3	2	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.541C>A	p.Pro181Thr	p.P181T	ENST00000312240	1/1	124	101	23	118	118	0	strelka-varscan-mutect	OR5M3,missense_variant,p.Pro181Thr,ENST00000312240,NM_001004742.2;	T	ENST00000312240	Transcript	missense_variant	541/924	541/924	181/307	P/T	Cct/Act		1		-1	OR5M3	HGNC	HGNC:14806	protein_coding	YES	CCDS31532.1	ENSP00000312208	Q8NGP4		UPI0000041BAA	NM_001004742.2	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF17,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	53	56469957	56469957	G	T	1	0	0	0	0	1	0	0	0	11244	1261	44	2		2	OR5M3	11	56469957	Missense_Mutation	SNP	G	C3N-00551_TP	475752	56469957	78616665	389	17068											
LRRC55	0	.	GRCh38	chr11	57182247	57182247	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacctcagcctggcccacaaCcgcatcacagcagtgccgcc	10	4	8	19	2	2	0	2	0	0	0	2	0	2	0	6	1	5	2	6	1	2	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.354C>A	p.Asn118Lys	p.N118K	ENST00000497933	1/2	176	159	17	168	168	0	strelka-varscan-mutect	LRRC55,missense_variant,p.Asn118Lys,ENST00000497933,NM_001005210.2;	A	ENST00000497933	Transcript	missense_variant	501/5410	354/1026	118/341	N/K	aaC/aaA		1		1	LRRC55	HGNC	HGNC:32324	protein_coding	YES	CCDS31539.1	ENSP00000419542	Q6ZSA7		UPI00001C0E6F	NM_001005210.2	deleterious(0)		1/2		PROSITE_profiles:PS51450,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	57182247	57182247	C	A	1	0	0	0	0	1	0	0	0	8906	506	18	2		2	LRRC55	11	57182247	Missense_Mutation	SNP	C	C3N-00551_TP	712290	57182247	77904375	390	17069											
VWCE	0	.	GRCh38	chr11	61286410	61286410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtggccctcgcaggaggAggttacacattcgtcaatgt	10	9	12	10	2	1	0	1	0	0	0	3	2	1	2	1	4	1	2	1	4	2	2	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.445T>C	p.Ser149Pro	p.S149P	ENST00000335613	5/20	248	234	14	203	203	0	strelka-varscan-mutect	VWCE,missense_variant,p.Ser149Pro,ENST00000335613,NM_152718.2;VWCE,5_prime_UTR_variant,,ENST00000613271,;VWCE,missense_variant,p.Ser149Pro,ENST00000301770,;VWCE,3_prime_UTR_variant,,ENST00000535599,;VWCE,non_coding_transcript_exon_variant,,ENST00000538579,;	G	ENST00000335613	Transcript	missense_variant	832/3640	445/2868	149/955	S/P	Tcc/Ccc		1		-1	VWCE	HGNC	HGNC:26487	protein_coding	YES	CCDS8002.1	ENSP00000334186	Q96DN2		UPI000013E751	NM_152718.2	deleterious(0.03)		5/20		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	61286410	61286410	A	G	1	0	0	0	0	1	0	0	0	17804	304	11	5		5	VWCE	11	61286410	Missense_Mutation	SNP	A	C3N-00551_TP	4104163	61286410	73800212	391	17070											
AHNAK	0	.	GRCh38	chr11	62522723	62522723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttgcatgtcaccttcCacttttggcagagacacatc	10	11	8	12	0	1	1	1	0	0	1	3	3	2	2	2	2	2	2	2	2	1	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.11694G>A	p.=	p.V3898V	ENST00000378024	5/5	313	292	21	331	331	0	strelka-varscan-mutect	AHNAK,synonymous_variant,p.=,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	T	ENST00000378024	Transcript	synonymous_variant	11969/18787	11694/17673	3898/5890	V	gtG/gtA		1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2			5/5		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	53	62522723	62522723	C	T	1	0	0	0	0	0	0	0	1	491	581	21	3		3	AHNAK	11	62522723	Silent	SNP	C	C3N-00551_TP	1236313	62522723	72563899	392	17071											
HNRNPUL2	0	.	GRCh38	chr11	62726838	62726838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctccggcggcggctgcgCggcctgacccaaggcttgag	4	5	18	14	5	0	2	0	2	0	0	1	2	1	2	3	6	1	3	3	6	1	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.319G>T	p.Ala107Ser	p.A107S	ENST00000301785	1/14	81	59	22	88	88	0	strelka-varscan-mutect	HNRNPUL2,missense_variant,p.Ala107Ser,ENST00000301785,NM_001079559.2;TTC9C,upstream_gene_variant,,ENST00000316461,NM_173810.3;TTC9C,upstream_gene_variant,,ENST00000532583,;TTC9C,upstream_gene_variant,,ENST00000530625,;HNRNPUL2-BSCL2,missense_variant,p.Ala107Ser,ENST00000403734,;TTC9C,upstream_gene_variant,,ENST00000294161,;HNRNPUL2,upstream_gene_variant,,ENST00000540127,;	A	ENST00000301785	Transcript	missense_variant	512/5106	319/2244	107/747	A/S	Gcg/Tcg		1		-1	HNRNPUL2	HGNC	HGNC:25451	protein_coding	YES	CCDS41659.1	ENSP00000301785	Q1KMD3		UPI0000161949	NM_001079559.2	tolerated(0.3)		1/14		Low_complexity_(Seg):seg,hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF43																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	62726838	62726838	C	A	1	0	0	0	0	1	0	0	0	7170	768	27	1		1	HNRNPUL2	11	62726838	Missense_Mutation	SNP	C	C3N-00551_TP	204115	62726838	72359784	393	17072											
LTBP3	0	.	GRCh38	chr11	65551429	65551429	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgggcaggagtcgtggTggcagttgggtggctctgct	3	9	21	8	2	1	0	0	0	1	0	2	1	1	1	1	7	1	5	1	7	0	1	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1594A>G	p.Thr532Ala	p.T532A	ENST00000301873	10/28	553	451	102	447	447	0	strelka-varscan-mutect	LTBP3,missense_variant,p.Thr532Ala,ENST00000301873,NM_001130144.2;LTBP3,missense_variant,p.Thr532Ala,ENST00000322147,NM_001164266.1,NM_021070.4;LTBP3,missense_variant,p.Thr443Ala,ENST00000530866,;LTBP3,missense_variant,p.Thr183Ala,ENST00000526927,;LTBP3,upstream_gene_variant,,ENST00000532932,;LTBP3,upstream_gene_variant,,ENST00000529189,;LTBP3,upstream_gene_variant,,ENST00000527339,;LTBP3,downstream_gene_variant,,ENST00000530426,;LTBP3,3_prime_UTR_variant,,ENST00000528516,;LTBP3,non_coding_transcript_exon_variant,,ENST00000528966,;LTBP3,non_coding_transcript_exon_variant,,ENST00000529764,;LTBP3,downstream_gene_variant,,ENST00000526825,;LTBP3,downstream_gene_variant,,ENST00000527792,;LTBP3,downstream_gene_variant,,ENST00000524798,;	C	ENST00000301873	Transcript	missense_variant	1863/4443	1594/3912	532/1303	T/A	Acc/Gcc		1		-1	LTBP3	HGNC	HGNC:6716	protein_coding	YES	CCDS44647.1	ENSP00000301873	Q9NS15		UPI00003667EB	NM_001130144.2	tolerated(0.06)		10/28		Low_complexity_(Seg):seg,hmmpanther:PTHR24034:SF46,hmmpanther:PTHR24034																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	53	65551429	65551429	T	C	1	0	0	0	0	1	0	0	0	8981	1696	59	5		5	LTBP3	11	65551429	Missense_Mutation	SNP	T	C3N-00551_TP	2824591	65551429	69535193	394	17073											
TSGA10IP	0	.	GRCh38	chr11	65953599	65953599	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgggagcggcagcggcAggaggagcggcagcaggccg	7	1	22	11	4	0	0	0	0	0	0	0	3	0	3	2	8	4	4	2	8	0	0	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.1184A>T	p.Gln395Leu	p.Q395L	ENST00000532620	5/8	67	46	21	76	76	0	strelka-varscan-mutect	TSGA10IP,missense_variant,p.Gln395Leu,ENST00000532620,NM_152762.2;TSGA10IP,synonymous_variant,p.=,ENST00000608857,;TSGA10IP,synonymous_variant,p.=,ENST00000534740,;	T	ENST00000532620	Transcript	missense_variant	1415/1925	1184/1671	395/556	Q/L	cAg/cTg		1		1	TSGA10IP	HGNC	HGNC:26555	protein_coding	YES	CCDS66138.1	ENSP00000484252	Q3SY00		UPI0000EE47ED	NM_152762.2	tolerated(0.28)		5/8		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21501,hmmpanther:PTHR21501:SF5,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	65953599	65953599	A	T	1	0	0	0	0	1	0	0	0	17124	188	7	4		4	TSGA10IP	11	65953599	Missense_Mutation	SNP	A	C3N-00551_TP	402170	65953599	69133023	395	17074											
TENM4	0	.	GRCh38	chr11	78708360	78708360	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtagatgaagccatcttaCctgggaaatatccatgacag	13	10	10	8	0	1	3	0	2	1	1	2	4	2	4	3	2	2	1	3	2	5	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.4209+1G>T		p.X1403_splice	ENST00000278550		85	67	18	96	95	1	strelka-varscan-mutect	TENM4,splice_donor_variant,,ENST00000278550,NM_001098816.2;	A	ENST00000278550	Transcript	splice_donor_variant	-/14000	4209/8310	1403/2769				1		-1	TENM4	HGNC	HGNC:29945	protein_coding	YES	CCDS44688.1	ENSP00000278550	Q6N022		UPI0000DD8112	NM_001098816.2				27/33																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	53	78708360	78708360	C	A	1	0	0	0	0	0	0	1	0	16174	521	18	2		2	TENM4	11	78708360	Splice_Site	SNP	C	C3N-00551_TP	12754761	78708360	56378262	396	17075											
CCDC81	0	.	GRCh38	chr11	86375215	86375215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctgggcaggcaggtgctgCccactctgccctcgctgagc	5	7	13	16	1	1	1	0	1	1	0	2	1	1	1	3	3	4	4	3	3	0	0	rs751443342		C3N-00551_TP	C3N-00551_NB	C	C																c.52C>G	p.Pro18Ala	p.P18A	ENST00000445632	1/15	166	155	11	222	222	0	strelka-varscan-mutect	CCDC81,missense_variant,p.Pro18Ala,ENST00000445632,NM_001156474.1;CCDC81,missense_variant,p.Pro18Ala,ENST00000354755,NM_021827.4;CCDC81,missense_variant,p.Pro18Ala,ENST00000531271,;	G	ENST00000445632	Transcript	missense_variant	324/2528	52/1959	18/652	P/A	Ccc/Gcc	rs751443342	1		1	CCDC81	HGNC	HGNC:26281	protein_coding	YES	CCDS53691.1	ENSP00000415528	Q6ZN84		UPI0000E5BE97	NM_001156474.1	deleterious(0.04)		1/15		hmmpanther:PTHR14362,hmmpanther:PTHR14362:SF2																	MODERATE	1	SNV	1			1										PASS		rs751443342	.												G	3	3	53	86375215	86375215	C	G	1	0	0	0	0	1	0	0	0	2553	739	26	4		4	CCDC81	11	86375215	Missense_Mutation	SNP	C	C3N-00551_TP	7666855	86375215	48711407	397	17076											
GRM5	0	.	GRCh38	chr11	88604733	88604733	+	Frame_Shift_Del	DEL	C	C	-																															aataccttcctggagagtctCcattctcatcgaataggatc																								novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1379delG	p.Gly460GlufsTer9	p.G460Efs*9	ENST00000305447	4/9	131	102	29	207	207	0	sindel-varindel-pindel	GRM5,frameshift_variant,p.Gly460GlufsTer9,ENST00000455756,NM_000842.4;GRM5,frameshift_variant,p.Gly460GlufsTer9,ENST00000305447,NM_001143831.2;GRM5,frameshift_variant,p.Gly460GlufsTer9,ENST00000305432,;	-	ENST00000305447	Transcript	frameshift_variant	1529/4571	1379/3639	460/1212	G/X	gGa/ga		1		-1	GRM5	HGNC	HGNC:4597	protein_coding	YES	CCDS44694.1	ENSP00000306138	P41594		UPI000012F081	NM_001143831.2			4/9		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30,Superfamily_domains:SSF53822																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	53	88604733	88604733	C	-	1	0	1	0	1	0	0	0	0	6682	855	30	0		0	GRM5	11	88604733	Frame_Shift_Del	DEL	C	C3N-00551_TP	2229518	88604733	46481889	398	17077											
FAT3	0	.	GRCh38	chr11	92799307	92799307	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgttcaagtggatgcggaAcccgggactctgatttatca	9	11	12	9	2	3	1	2	1	1	0	3	4	3	4	1	3	2	2	1	3	3	3	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.5844A>T	p.Glu1948Asp	p.E1948D	ENST00000525166	9/27	219	194	25	225	225	0	strelka-varscan-mutect	FAT3,missense_variant,p.Glu2098Asp,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Glu1948Asp,ENST00000525166,;	T	ENST00000525166	Transcript	missense_variant	5866/18699	5844/13320	1948/4439	E/D	gaA/gaT		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		tolerated(0.08)		9/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	53	92799307	92799307	A	T	1	0	0	0	0	1	0	0	0	5551	40	2	4		4	FAT3	11	92799307	Missense_Mutation	SNP	A	C3N-00551_TP	4194574	92799307	42287315	399	17078											
CEP295	0	.	GRCh38	chr11	93698284	93698284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcctaggagaattcaGgagctttatttatctgagaa	12	12	11	6	0	2	3	1	2	1	2	2	6	2	4	1	2	2	2	1	2	5	6	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.3372G>T	p.Gln1124His	p.Q1124H	ENST00000325212	15/30	222	172	50	262	261	1	strelka-varscan-mutect	CEP295,missense_variant,p.Gln1124His,ENST00000325212,NM_033395.1;CEP295,intron_variant,,ENST00000531700,;CEP295,upstream_gene_variant,,ENST00000530425,;CEP295,downstream_gene_variant,,ENST00000531877,;CEP295,downstream_gene_variant,,ENST00000531622,;	T	ENST00000325212	Transcript	missense_variant	3534/8057	3372/7806	1124/2601	Q/H	caG/caT		1		1	CEP295	HGNC	HGNC:29366	protein_coding	YES	CCDS44708.1	ENSP00000316681	Q9C0D2		UPI0000251F0E	NM_033395.1	tolerated(0.07)		15/30		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF25																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	53	93698284	93698284	G	T	1	0	0	0	0	1	0	0	0	2970	991	35	2		2	CEP295	11	93698284	Missense_Mutation	SNP	G	C3N-00551_TP	898977	93698284	41388338	400	17079											
KDM4D	0	.	GRCh38	chr11	94997758	94997758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaaaatactggaagaaccGcatctataattcaccgattt	15	10	7	9	3	2	1	1	0	1	1	2	4	2	2	2	1	2	1	2	1	7	5			C3N-00551_TP	C3N-00551_NB	G	G																c.386G>T	p.Arg129Leu	p.R129L	ENST00000335080	3/3	409	344	65	335	335	0	strelka-varscan-mutect	KDM4D,missense_variant,p.Arg129Leu,ENST00000335080,NM_018039.2;KDM4D,missense_variant,p.Arg129Leu,ENST00000536741,;KDM4D,missense_variant,p.Arg129Leu,ENST00000610872,;	T	ENST00000335080	Transcript	missense_variant	1218/2978	386/1572	129/523	R/L	cGc/cTc	COSM1211750	1		1	KDM4D	HGNC	HGNC:25498	protein_coding	YES	CCDS8302.1	ENSP00000334181	Q6B0I6		UPI00001A82EC	NM_018039.2	tolerated(1)		3/3		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF21,Superfamily_domains:SSF51197											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	53	94997758	94997758	G	T	1	0	0	0	0	1	0	0	0	8049	1087	38	1		1	KDM4D	11	94997758	Missense_Mutation	SNP	G	C3N-00551_TP	1299474	94997758	40088864	401	17080											
MTMR2	0	.	GRCh38	chr11	95850648	95850648	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactctctttaattcttcAtcaggaatatttgctggcac	9	15	6	11	0	4	0	2	0	2	0	5	1	4	1	1	2	1	2	1	2	3	6	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.756T>G	p.Asp252Glu	p.D252E	ENST00000346299	8/15	380	303	77	388	387	1	strelka-varscan-mutect	MTMR2,missense_variant,p.Asp252Glu,ENST00000346299,NM_016156.5;MTMR2,missense_variant,p.Asp180Glu,ENST00000393223,;MTMR2,missense_variant,p.Asp180Glu,ENST00000409459,NM_001243571.1;MTMR2,missense_variant,p.Asp180Glu,ENST00000352297,NM_201281.2,NM_201278.2;MTMR2,missense_variant,p.Asp180Glu,ENST00000444541,;MTMR2,non_coding_transcript_exon_variant,,ENST00000484818,;	C	ENST00000346299	Transcript	missense_variant	1097/4681	756/1932	252/643	D/E	gaT/gaG		1		-1	MTMR2	HGNC	HGNC:7450	protein_coding	YES	CCDS8305.1	ENSP00000345752	Q13614		UPI00001AF36F	NM_016156.5	tolerated(0.22)		8/15		Pfam_domain:PF06602,PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF42,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	95850648	95850648	A	C	1	0	0	0	0	1	0	0	0	9931	214	8	5		5	MTMR2	11	95850648	Missense_Mutation	SNP	A	C3N-00551_TP	852890	95850648	39235974	402	17081											
PGR	0	.	GRCh38	chr11	101050001	101050001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagcttgacaaactcctGtgggatctgccacatggtaa	11	11	10	9	0	1	2	0	2	1	0	2	3	2	3	2	2	3	2	2	2	3	3	rs773336784		C3N-00551_TP	C3N-00551_NB	G	G																c.2416C>A	p.Gln806Lys	p.Q806K	ENST00000325455	6/8	342	300	42	422	422	0	strelka-varscan-mutect	PGR,missense_variant,p.Gln806Lys,ENST00000325455,NM_000926.4,NM_001202474.3;PGR,missense_variant,p.His749Gln,ENST00000619228,;PGR,missense_variant,p.Gln704Lys,ENST00000263463,NM_001271161.2;PGR,missense_variant,p.Gln212Lys,ENST00000534013,NM_001271162.1;PGR,intron_variant,,ENST00000617858,;PGR,missense_variant,p.His788Gln,ENST00000534780,;PGR,missense_variant,p.His749Gln,ENST00000528960,;PGR,non_coding_transcript_exon_variant,,ENST00000533207,;PGR,non_coding_transcript_exon_variant,,ENST00000530764,;PGR,intron_variant,,ENST00000526300,;	T	ENST00000325455	Transcript	missense_variant	3870/13748	2416/2802	806/933	Q/K	Cag/Aag	rs773336784	1		-1	PGR	HGNC	HGNC:8910	protein_coding	YES	CCDS8310.1	ENSP00000325120	P06401		UPI0000046E22	NM_000926.4,NM_001202474.3	deleterious(0.01)		6/8		hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF7,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508																	MODERATE	1	SNV	1			1										PASS		rs773336784	.												T	3	4	53	101050001	101050001	G	T	1	0	0	0	0	1	0	0	0	11894	1386	48	2		2	PGR	11	101050001	Missense_Mutation	SNP	G	C3N-00551_TP	5199353	101050001	34036621	403	17082											
DYNC2H1	0	.	GRCh38	chr11	103128917	103128917	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttactttgtaggtggcacAtttttataattctattgatc	9	21	6	5	0	1	1	0	1	1	0	2	1	1	1	0	2	1	2	0	2	5	11	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.1865A>G	p.His622Arg	p.H622R	ENST00000398093	13/90	149	123	26	158	158	0	strelka-varscan-mutect	DYNC2H1,missense_variant,p.His622Arg,ENST00000375735,NM_001377.2;DYNC2H1,missense_variant,p.His622Arg,ENST00000398093,NM_001080463.1;DYNC2H1,missense_variant,p.His622Arg,ENST00000334267,;	G	ENST00000398093	Transcript	missense_variant	1865/12945	1865/12945	622/4314	H/R	cAt/cGt		1		1	DYNC2H1	HGNC	HGNC:2962	protein_coding	YES	CCDS44717.1	ENSP00000381167	Q8NCM8		UPI0000481AC7	NM_001080463.1	deleterious(0.01)		13/90		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF282,Pfam_domain:PF08385																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	53	103128917	103128917	A	G	1	0	0	0	0	1	0	0	0	4670	217	8	5		5	DYNC2H1	11	103128917	Missense_Mutation	SNP	A	C3N-00551_TP	2078916	103128917	31957705	404	17083											
DYNC2H1	0	.	GRCh38	chr11	103358267	103358267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcacagttgaggattttgGgcagatccataacagctggt	10	13	11	7	0	1	2	1	1	0	1	2	3	2	3	1	3	2	3	1	3	1	5	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.12085G>T	p.Gly4029Cys	p.G4029C	ENST00000398093	84/90	116	95	21	138	138	0	strelka-varscan-mutect	DYNC2H1,missense_variant,p.Gly4022Cys,ENST00000375735,NM_001377.2;DYNC2H1,missense_variant,p.Gly4029Cys,ENST00000398093,NM_001080463.1;DYNC2H1,missense_variant,p.Gly9Cys,ENST00000533197,;DYNC2H1,intron_variant,,ENST00000334267,;DYNC2H1,3_prime_UTR_variant,,ENST00000528670,;	T	ENST00000398093	Transcript	missense_variant	12085/12945	12085/12945	4029/4314	G/C	Ggc/Tgc		1		1	DYNC2H1	HGNC	HGNC:2962	protein_coding	YES	CCDS44717.1	ENSP00000381167	Q8NCM8		UPI0000481AC7	NM_001080463.1	deleterious(0.05)		84/90		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF282,Pfam_domain:PF03028																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	53	103358267	103358267	G	T	1	0	0	0	0	1	0	0	0	4670	1232	43	2		2	DYNC2H1	11	103358267	Missense_Mutation	SNP	G	C3N-00551_TP	229350	103358267	31728355	405	17084											
ACAT1	0	.	GRCh38	chr11	108143991	108143991	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttttaaacagcatttgctGacgctgctgtagaacctatt	10	16	7	8	1	0	2	0	1	0	1	0	2	0	2	1	0	5	5	1	0	5	7	rs780486838		C3N-00551_TP	C3N-00551_NB	G	G																c.949G>C	p.Asp317His	p.D317H	ENST00000265838	10/12	275	255	20	350	350	0	varscan-mutect	ACAT1,missense_variant,p.Asp317His,ENST00000265838,NM_000019.3;ACAT1,downstream_gene_variant,,ENST00000528370,;ACAT1,non_coding_transcript_exon_variant,,ENST00000532792,;ACAT1,non_coding_transcript_exon_variant,,ENST00000533610,;ACAT1,downstream_gene_variant,,ENST00000531813,;ACAT1,upstream_gene_variant,,ENST00000533597,;ACAT1,downstream_gene_variant,,ENST00000534773,;	C	ENST00000265838	Transcript	missense_variant	1040/1761	949/1284	317/427	D/H	Gac/Cac	rs780486838	1		1	ACAT1	HGNC	HGNC:93	protein_coding	YES	CCDS8339.1	ENSP00000265838	P24752	A0A140VJX1	UPI0000136E41	NM_000019.3	deleterious(0)		10/12		Gene3D:3.40.47.10,Pfam_domain:PF02803,PIRSF_domain:PIRSF000429,hmmpanther:PTHR18919,hmmpanther:PTHR18919:SF81,Superfamily_domains:SSF53901,TIGRFAM_domain:TIGR01930																	MODERATE	1	SNV	1			1										PASS		rs780486838	.												C	3	2	53	108143991	108143991	G	C	1	0	0	0	0	1	0	0	0	164	1290	45	4		4	ACAT1	11	108143991	Missense_Mutation	SNP	G	C3N-00551_TP	4785724	108143991	26942631	406	17085											
RDX	0	.	GRCh38	chr11	110253967	110253967	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccaactgcttctgatgtTtctcctccctagcctgagcc	5	15	6	15	0	2	2	0	2	2	0	5	2	4	2	5	0	4	2	5	0	2	4			C3N-00551_TP	C3N-00551_NB	T	T																c.938A>C	p.Lys313Thr	p.K313T	ENST00000405097	9/16	438	391	47	473	473	0	strelka-varscan-mutect	RDX,missense_variant,p.Lys313Thr,ENST00000343115,NM_002906.3;RDX,missense_variant,p.Lys177Thr,ENST00000544551,NM_001260494.1;RDX,missense_variant,p.Lys313Thr,ENST00000405097,NM_001260492.1;RDX,missense_variant,p.Lys313Thr,ENST00000528498,NM_001260493.1;RDX,intron_variant,,ENST00000528900,NM_001260495.1;RDX,intron_variant,,ENST00000530301,NM_001260496.1;RDX,downstream_gene_variant,,ENST00000534683,;RDX,downstream_gene_variant,,ENST00000532118,;RDX,missense_variant,p.Lys313Thr,ENST00000530749,;RDX,3_prime_UTR_variant,,ENST00000530131,;RDX,non_coding_transcript_exon_variant,,ENST00000529774,;	G	ENST00000405097	Transcript	missense_variant	1248/2761	938/1815	313/604	K/T	aAa/aCa	COSM4841302	1		-1	RDX	HGNC	HGNC:9944	protein_coding	YES	CCDS58174.1	ENSP00000384136	P35241		UPI0000EE3914	NM_001260492.1	deleterious(0)		9/16		Gene3D:1e5wA04,Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF002305,hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF14,Superfamily_domains:SSF50729											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	53	110253967	110253967	T	G	1	0	0	0	0	1	0	0	0	13367	1841	64	5		5	RDX	11	110253967	Missense_Mutation	SNP	T	C3N-00551_TP	2109976	110253967	24832655	407	17086											
RDX	0	.	GRCh38	chr11	110253989	110253989	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccctagcctgagcctTcatctgttgtacttcaatag	7	14	6	14	0	3	1	2	1	1	0	5	1	5	1	4	0	3	2	4	0	4	6	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.916A>C	p.Lys306Gln	p.K306Q	ENST00000405097	9/16	445	404	41	488	488	0	strelka-varscan-mutect	RDX,missense_variant,p.Lys306Gln,ENST00000343115,NM_002906.3;RDX,missense_variant,p.Lys170Gln,ENST00000544551,NM_001260494.1;RDX,missense_variant,p.Lys306Gln,ENST00000405097,NM_001260492.1;RDX,missense_variant,p.Lys306Gln,ENST00000528498,NM_001260493.1;RDX,intron_variant,,ENST00000528900,NM_001260495.1;RDX,intron_variant,,ENST00000530301,NM_001260496.1;RDX,downstream_gene_variant,,ENST00000534683,;RDX,downstream_gene_variant,,ENST00000532118,;RDX,missense_variant,p.Lys306Gln,ENST00000530749,;RDX,3_prime_UTR_variant,,ENST00000530131,;RDX,non_coding_transcript_exon_variant,,ENST00000529774,;	G	ENST00000405097	Transcript	missense_variant	1226/2761	916/1815	306/604	K/Q	Aag/Cag		1		-1	RDX	HGNC	HGNC:9944	protein_coding	YES	CCDS58174.1	ENSP00000384136	P35241		UPI0000EE3914	NM_001260492.1	deleterious(0)		9/16		Gene3D:1e5wA04,Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF002305,hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF14,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	110253989	110253989	T	G	1	0	0	0	0	1	0	0	0	13367	1792	62	5		5	RDX	11	110253989	Missense_Mutation	SNP	T	C3N-00551_TP	22	110253989	24832633	408	17087											
ZBTB16	0	.	GRCh38	chr11	114064256	114064256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaggcccccactggccGacctgagcacccagcacccc	7	3	10	21	1	0	1	0	1	0	0	0	2	0	1	8	3	2	2	8	3	0	0	rs772815592		C3N-00551_TP	C3N-00551_NB	G	G																c.956G>T	p.Arg319Leu	p.R319L	ENST00000335953	2/7	438	372	66	514	514	0	strelka-varscan-mutect	ZBTB16,missense_variant,p.Arg319Leu,ENST00000335953,NM_006006.4;ZBTB16,missense_variant,p.Arg319Leu,ENST00000392996,NM_001018011.1;ZBTB16,downstream_gene_variant,,ENST00000544220,;ZBTB16,downstream_gene_variant,,ENST00000535700,;ZBTB16,non_coding_transcript_exon_variant,,ENST00000541602,;ZBTB16,upstream_gene_variant,,ENST00000539918,;	T	ENST00000335953	Transcript	missense_variant	1336/2523	956/2022	319/673	R/L	cGa/cTa	rs772815592,COSM3443625	1		1	ZBTB16	HGNC	HGNC:12930	protein_coding	YES	CCDS8367.1	ENSP00000338157	Q05516	A0A024R3C6	UPI000000018E	NM_006006.4	tolerated(0.31)		2/7													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs772815592	.												T	3	4	53	114064256	114064256	G	T	1	0	0	0	0	1	0	0	0	18093	1058	37	1		1	ZBTB16	11	114064256	Missense_Mutation	SNP	G	C3N-00551_TP	3810267	114064256	21022366	409	17088											
GRIK4	0	.	GRCh38	chr11	120960980	120960980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgaccgtgcagcgcaTggatgtgcccattgagtcag	7	10	12	12	2	1	2	1	2	0	0	2	3	2	3	3	1	3	2	3	1	0	2	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1946T>C	p.Met649Thr	p.M649T	ENST00000527524	17/21	189	161	28	281	281	0	strelka-mutect	GRIK4,missense_variant,p.Met649Thr,ENST00000527524,NM_014619.4;GRIK4,missense_variant,p.Met649Thr,ENST00000438375,NM_001282473.2,NM_001282470.2;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;	C	ENST00000527524	Transcript	missense_variant	2233/5802	1946/2871	649/956	M/T	aTg/aCg		1		1	GRIK4	HGNC	HGNC:4582	protein_coding	YES	CCDS8433.1	ENSP00000435648	Q16099		UPI000013DB8D	NM_014619.4	deleterious(0)		17/21		hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	53	120960980	120960980	T	C	1	0	0	0	0	1	0	0	0	6658	1464	51	5		5	GRIK4	11	120960980	Missense_Mutation	SNP	T	C3N-00551_TP	6896724	120960980	14125642	410	17089											
SORL1	0	.	GRCh38	chr11	121514216	121514216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagccacagtaacaaccGcaccaatttatacatctcag	14	9	5	13	1	2	0	2	0	1	0	3	0	2	0	3	0	4	2	3	0	5	4	rs772660461		C3N-00551_TP	C3N-00551_NB	G	G																c.1106G>C	p.Arg369Pro	p.R369P	ENST00000260197	8/48	206	188	18	227	227	0	strelka-varscan-mutect	SORL1,missense_variant,p.Arg369Pro,ENST00000260197,NM_003105.5;SORL1,non_coding_transcript_exon_variant,,ENST00000532451,;	C	ENST00000260197	Transcript	missense_variant	1235/10904	1106/6645	369/2214	R/P	cGc/cCc	rs772660461,COSM924043	1		1	SORL1	HGNC	HGNC:11185	protein_coding	YES	CCDS8436.1	ENSP00000260197	Q92673		UPI000013D0B1	NM_003105.5	tolerated(0.22)		8/48		Pfam_domain:PF15902,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,SMART_domains:SM00602,Superfamily_domains:SSF110296											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs772660461	.												C	3	2	53	121514216	121514216	G	C	1	0	0	0	0	1	0	0	0	15256	1087	38	4		4	SORL1	11	121514216	Missense_Mutation	SNP	G	C3N-00551_TP	553236	121514216	13572406	411	17090											
OR8B2	0	.	GRCh38	chr11	124382488	124382488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcaaactgtagatgagggGattgagcatgggcaccacat	12	8	12	9	0	1	3	1	2	0	1	1	4	1	4	2	3	2	3	2	3	2	2			C3N-00551_TP	C3N-00551_NB	G	G																c.856C>A	p.Pro286Thr	p.P286T	ENST00000375013	1/1	289	232	57	300	300	0	strelka-varscan-mutect	OR8B2,missense_variant,p.Pro286Thr,ENST00000375013,NM_001005468.1;OR8C1P,upstream_gene_variant,,ENST00000427511,;	T	ENST00000375013	Transcript	missense_variant	875/968	856/942	286/313	P/T	Ccc/Acc	COSM348374	1		-1	OR8B2	HGNC	HGNC:8471	protein_coding	YES	CCDS31708.1	ENSP00000364152	Q96RD0	A0A126GVQ4	UPI000004B1E5	NM_001005468.1	deleterious_low_confidence(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF258,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	53	124382488	124382488	G	T	1	0	0	0	0	1	0	0	0	11297	1174	41	2		2	OR8B2	11	124382488	Missense_Mutation	SNP	G	C3N-00551_TP	2868272	124382488	10704134	412	17091											
SNX19	0	.	GRCh38	chr11	130906011	130906011	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctgacacgcaactgtcCacacgtcctttgggaggttg	8	10	11	12	2	1	1	0	1	1	0	3	2	3	2	2	2	1	3	2	2	1	2	rs553468459		C3N-00551_TP	C3N-00551_NB	C	C																c.2385G>T	p.=	p.V795V	ENST00000265909	7/11	195	153	42	294	294	0	strelka-varscan-mutect	SNX19,synonymous_variant,p.=,ENST00000265909,NM_014758.2;SNX19,synonymous_variant,p.=,ENST00000533214,;SNX19,synonymous_variant,p.=,ENST00000534726,;SNX19,synonymous_variant,p.=,ENST00000530356,;SNX19,synonymous_variant,p.=,ENST00000528555,NM_001301089.1;SNX19,non_coding_transcript_exon_variant,,ENST00000533318,;SNX19,non_coding_transcript_exon_variant,,ENST00000524460,;SNX19,upstream_gene_variant,,ENST00000526579,;SNX19,non_coding_transcript_exon_variant,,ENST00000527451,;SNX19,downstream_gene_variant,,ENST00000531608,;	A	ENST00000265909	Transcript	synonymous_variant	2955/6535	2385/2979	795/992	V	gtG/gtT	rs553468459	1		-1	SNX19	HGNC	HGNC:21532	protein_coding	YES	CCDS31721.1	ENSP00000265909	Q92543		UPI000013D6A5	NM_014758.2			7/11		hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF31																	LOW	1	SNV	1			1										PASS		rs553468459	.												A	2	1	53	130906011	130906011	C	A	1	0	0	0	0	0	0	0	1	15211	581	21	2		2	SNX19	11	130906011	Silent	SNP	C	C3N-00551_TP	6523523	130906011	4180611	413	17092											
NTM	0	.	GRCh38	chr11	132146354	132146354	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctctatgctgggaatgaCaagtggtgcctggatcctcg	8	11	12	10	1	1	1	0	1	1	0	4	3	3	3	3	3	2	1	3	3	3	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.240C>A	p.Asp80Glu	p.D80E	ENST00000425719	2/8	344	305	39	445	445	0	strelka-varscan-mutect	NTM,missense_variant,p.Asp80Glu,ENST00000374786,NM_016522.2;NTM,missense_variant,p.Asp80Glu,ENST00000374791,NM_001048209.1;NTM,missense_variant,p.Asp80Glu,ENST00000425719,NM_001144058.1;NTM,missense_variant,p.Asp80Glu,ENST00000374784,NM_001144059.1;NTM,missense_variant,p.Asp71Glu,ENST00000550167,;NTM,5_prime_UTR_variant,,ENST00000427481,;NTM,5_prime_UTR_variant,,ENST00000539799,;NTM,non_coding_transcript_exon_variant,,ENST00000467255,;NTM,intron_variant,,ENST00000498764,;NTM,non_coding_transcript_exon_variant,,ENST00000479431,;	A	ENST00000425719	Transcript	missense_variant	260/1607	240/1068	80/355	D/E	gaC/gaA		1		1	NTM	HGNC	HGNC:17941	protein_coding	YES	CCDS44777.1	ENSP00000396722	Q9P121		UPI00001A58B9	NM_001144058.1	tolerated(0.12)		2/8		PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF116,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1436314297	.												A	3	1	53	132146354	132146354	C	A	1	0	0	0	0	1	0	0	0	10763	477	17	2		2	NTM	11	132146354	Missense_Mutation	SNP	C	C3N-00551_TP	1240343	132146354	2940268	414	17093											
SLC6A13	0	.	GRCh38	chr12	243729	243729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgacgcctccctggctaGtgtactggcctagtgctgtc	4	12	12	13	1	0	1	0	1	0	0	2	1	1	1	3	2	2	3	3	2	3	3	rs773882024		C3N-00551_TP	C3N-00551_NB	G	G																c.287C>A	p.Thr96Asn	p.T96N	ENST00000343164	3/15	160	120	40	220	219	1	strelka-varscan-mutect	SLC6A13,missense_variant,p.Thr96Asn,ENST00000343164,NM_016615.4;SLC6A13,intron_variant,,ENST00000445055,NM_001190997.2;SLC6A13,intron_variant,,ENST00000546319,;SLC6A13,missense_variant,p.Thr96Asn,ENST00000539260,;SLC6A13,5_prime_UTR_variant,,ENST00000542272,;SLC6A13,non_coding_transcript_exon_variant,,ENST00000536842,;	T	ENST00000343164	Transcript	missense_variant	340/2185	287/1809	96/602	T/N	aCt/aAt	rs773882024	1		-1	SLC6A13	HGNC	HGNC:11046	protein_coding	YES	CCDS8502.1	ENSP00000339260	Q9NSD5		UPI0000046060	NM_016615.4	deleterious(0)		3/15		PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF111,Pfam_domain:PF00209,Superfamily_domains:0053687																	MODERATE	1	SNV	1			1										PASS		rs773882024	.												T	3	4	53	243729	243729	G	T	1	0	0	0	0	1	0	0	0	14959	1029	36	2		2	SLC6A13	12	243729	Missense_Mutation	SNP	G	C3N-00551_TP		243729	133031580	415	17094											
NANOGNB	0	.	GRCh38	chr12	7770288	7770288	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagagtctatcactgtcAtttgaatttgacatgacaca	14	12	7	8	0	3	4	2	3	1	1	3	5	3	4	0	0	0	0	0	0	3	3	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.408A>G	p.=	p.S136S	ENST00000382119	2/4	87	54	33	99	99	0	strelka-varscan-mutect	NANOGNB,synonymous_variant,p.=,ENST00000382119,NM_001145465.1;	G	ENST00000382119	Transcript	synonymous_variant	478/907	408/567	136/188	S	tcA/tcG		1		1	NANOGNB	HGNC	HGNC:24958	protein_coding	YES	CCDS44826.1	ENSP00000371553	Q7Z5D8		UPI00001B3DAD	NM_001145465.1			2/4		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR12157,Superfamily_domains:SSF46689																	LOW	1	SNV	1			1										PASS		rs1021121764	.												G	2	3	53	7770288	7770288	A	G	1	0	0	0	0	0	0	0	1	10158	204	8	5		5	NANOGNB	12	7770288	Silent	SNP	A	C3N-00551_TP	7526559	7770288	125505021	416	17095											
CMAS	0	.	GRCh38	chr12	22065128	22065128	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttacttgataggaaatgaAgtgtctgatgaagagtgctt	12	15	11	3	0	1	5	0	4	1	1	1	6	1	6	0	1	2	1	0	1	5	5	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.1122A>C	p.Glu374Asp	p.E374D	ENST00000229329	8/8	75	67	8	69	69	0	strelka-varscan-mutect	CMAS,missense_variant,p.Glu374Asp,ENST00000229329,NM_018686.4;CMAS,downstream_gene_variant,,ENST00000538498,;ST8SIA1,intron_variant,,ENST00000536535,;ST8SIA1,downstream_gene_variant,,ENST00000544732,;CMAS,3_prime_UTR_variant,,ENST00000534981,;CMAS,downstream_gene_variant,,ENST00000535610,;CMAS,downstream_gene_variant,,ENST00000537658,;	C	ENST00000229329	Transcript	missense_variant	1252/1787	1122/1305	374/434	E/D	gaA/gaC		1		1	CMAS	HGNC	HGNC:18290	protein_coding	YES	CCDS8696.1	ENSP00000229329	Q8NFW8		UPI0000034274	NM_018686.4	tolerated(1)		8/8		hmmpanther:PTHR21485,hmmpanther:PTHR21485:SF3,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	22065128	22065128	A	C	1	0	0	0	0	1	0	0	0	3348	69	3	5		5	CMAS	12	22065128	Missense_Mutation	SNP	A	C3N-00551_TP	14294840	22065128	111210181	417	17096											
KRAS	0	.	GRCh38	chr12	25245350	25245350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		C3N-00551_TP	C3N-00551_NB	C	C																c.35G>T	p.Gly12Val	p.G12V	ENST00000256078	2/6	308	209	99	360	360	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Val,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Val,ENST00000556131,;KRAS,missense_variant,p.Gly12Val,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Val,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	99/1119	35/570	12/189	G/V	gGt/gTt	rs121913529,CM087372,COSM1135366,COSM1140133,COSM1140134,COSM12657,COSM49168,COSM520,COSM521,COSM522	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,0,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1,1,1	1										PASS		rs121913529	.												A	3	1	53	25245350	25245350	C	A	1	0	0	0	0	1	0	0	0	8318	507	18	2		2	KRAS	12	25245350	Missense_Mutation	SNP	C	C3N-00551_TP	3180222	25245350	108029959	418	17097											
KIAA1551	0	.	GRCh38	chr12	31981418	31981418	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatgccggcactacagagtCaactgataacatcagatacc	15	8	7	11	1	2	3	2	1	0	2	2	3	2	3	2	1	5	1	2	1	5	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.463C>T	p.Gln155Ter	p.Q155*	ENST00000312561	4/6	210	170	40	255	255	0	strelka-varscan-mutect	KIAA1551,stop_gained,p.Gln155Ter,ENST00000312561,NM_018169.3;KIAA1551,stop_gained,p.Gln155Ter,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,intron_variant,,ENST00000541981,;	T	ENST00000312561	Transcript	stop_gained	877/6230	463/5244	155/1747	Q/*	Caa/Taa		1		1	KIAA1551	HGNC	HGNC:25559	protein_coding	YES	CCDS8725.2	ENSP00000310338	Q9HCM1		UPI0000577B2F	NM_018169.3			4/6		hmmpanther:PTHR21604																	HIGH	1	SNV	1			1										PASS		rs1414074670	.												T	4	4	53	31981418	31981418	C	T	1	0	0	0	0	0	1	0	0	8122	827	29	3		3	KIAA1551	12	31981418	Nonsense_Mutation	SNP	C	C3N-00551_TP	6736068	31981418	101293891	419	17098											
KMT2D	0	.	GRCh38	chr12	49032705	49032705	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaggctttgctggcatGccagggccaagtgccacttg	8	9	14	10	0	0	2	0	1	0	1	0	2	0	2	3	3	3	3	3	3	2	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.12000C>A	p.=	p.G4000G	ENST00000301067	39/54	685	479	206	669	669	0	strelka-varscan-mutect	KMT2D,synonymous_variant,p.=,ENST00000301067,NM_003482.3;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000552391,;	T	ENST00000301067	Transcript	synonymous_variant	12000/19419	12000/16614	4000/5537	G	ggC/ggA		1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3			39/54																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	53	49032705	49032705	G	T	1	0	0	0	0	0	0	0	1	8298	1306	46	2		2	KMT2D	12	49032705	Silent	SNP	G	C3N-00551_TP	17051287	49032705	84242604	420	17099											
HOXC12	0	.	GRCh38	chr12	53955029	53955029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaacttccgcgcgtccgggGcgcagcttcccgggctgcct	3	7	13	18	6	0	0	0	0	0	0	3	0	3	0	5	3	3	3	5	3	1	2	rs766902318		C3N-00551_TP	C3N-00551_NB	G	G																c.100G>T	p.Ala34Ser	p.A34S	ENST00000243103	1/2	350	252	98	286	286	0	strelka-varscan-mutect	HOXC12,missense_variant,p.Ala34Ser,ENST00000243103,NM_173860.1;	T	ENST00000243103	Transcript	missense_variant	196/3335	100/849	34/282	A/S	Gcg/Tcg	rs766902318	1		1	HOXC12	HGNC	HGNC:5124	protein_coding	YES	CCDS8866.1	ENSP00000243103	P31275		UPI000012CF7E	NM_173860.1	tolerated(0.23)		1/2		hmmpanther:PTHR24326:SF164,hmmpanther:PTHR24326																	MODERATE	1	SNV	2			1										PASS		rs766902318	.												T	3	4	53	53955029	53955029	G	T	1	0	0	0	0	1	0	0	0	7205	1203	42	2		2	HOXC12	12	53955029	Missense_Mutation	SNP	G	C3N-00551_TP	4922324	53955029	79320280	421	17100											
HOXC12	0	.	GRCh38	chr12	53956375	53956375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctctcggaagaagcgcaagCcctattcgaagttgcaactg	11	8	11	11	3	1	1	0	0	1	1	3	3	1	2	1	1	4	4	1	1	6	3	rs745865686		C3N-00551_TP	C3N-00551_NB	C	C																c.658C>A	p.Pro220Thr	p.P220T	ENST00000243103	2/2	83	57	26	77	77	0	strelka-varscan-mutect	HOXC12,missense_variant,p.Pro220Thr,ENST00000243103,NM_173860.1;	A	ENST00000243103	Transcript	missense_variant	754/3335	658/849	220/282	P/T	Ccc/Acc	rs745865686	1		1	HOXC12	HGNC	HGNC:5124	protein_coding	YES	CCDS8866.1	ENSP00000243103	P31275		UPI000012CF7E	NM_173860.1	deleterious(0)		2/2		Low_complexity_(Seg):seg,PROSITE_profiles:PS50071,hmmpanther:PTHR24326:SF164,hmmpanther:PTHR24326,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	2			1										PASS		rs745865686	.												A	3	1	53	53956375	53956375	C	A	1	0	0	0	0	1	0	0	0	7205	739	26	2		2	HOXC12	12	53956375	Missense_Mutation	SNP	C	C3N-00551_TP	1346	53956375	79318934	422	17101											
HOXC6	0	.	GRCh38	chr12	54028599	54028599	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctccccaacgtcgccctCaattccaccgcctatgatcc	7	9	5	20	3	1	1	1	1	0	0	6	1	5	1	8	0	1	0	8	0	3	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.78C>T	p.=	p.L26L	ENST00000243108	1/2	228	154	74	261	261	0	strelka-varscan-mutect	HOXC6,synonymous_variant,p.=,ENST00000243108,NM_004503.3;HOXC6,5_prime_UTR_variant,,ENST00000394331,NM_153693.4;HOXC6,5_prime_UTR_variant,,ENST00000504315,;HOXC4,intron_variant,,ENST00000303406,NM_014620.5;RP11-834C11.12,intron_variant,,ENST00000513209,;HOXC6,intron_variant,,ENST00000509328,;HOXC5,upstream_gene_variant,,ENST00000312492,NM_018953.3;RP11-834C11.14,intron_variant,,ENST00000512206,;	T	ENST00000243108	Transcript	synonymous_variant	242/1733	78/708	26/235	L	ctC/ctT		1		1	HOXC6	HGNC	HGNC:5128	protein_coding	YES	CCDS8871.1	ENSP00000243108	P09630		UPI0000020BA4	NM_004503.3			1/2																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	54028599	54028599	C	T	1	0	0	0	0	0	0	0	1	7209	813	29	3		3	HOXC6	12	54028599	Silent	SNP	C	C3N-00551_TP	72224	54028599	79246710	423	17102											
ZBTB39	0	.	GRCh38	chr12	57003844	57003844	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgagcatgctgccggatCagttgaatgttgggctctag	7	11	13	10	2	2	1	1	1	1	0	3	3	3	2	2	2	3	5	2	2	2	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1074G>T	p.=	p.L358L	ENST00000300101	2/2	255	162	93	283	283	0	strelka-varscan-mutect	ZBTB39,synonymous_variant,p.=,ENST00000300101,NM_014830.2;	A	ENST00000300101	Transcript	synonymous_variant	1160/6170	1074/2139	358/712	L	ctG/ctT		1		-1	ZBTB39	HGNC	HGNC:29014	protein_coding	YES	CCDS31839.1	ENSP00000300101	O15060		UPI0000139682	NM_014830.2			2/2		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF218																	LOW	1	SNV	1			1										PASS		rs983338125	.												A	2	1	53	57003844	57003844	C	A	1	0	0	0	0	0	0	0	1	18109	813	29	2		2	ZBTB39	12	57003844	Silent	SNP	C	C3N-00551_TP	2975245	57003844	76271465	424	17103											
SRGAP1	0	.	GRCh38	chr12	64111910	64111910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaaccatcatcatccacCatgagactattttcccagat	14	11	3	13	0	3	2	3	1	0	2	5	3	5	2	4	0	1	0	4	0	3	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2068C>A	p.His690Asn	p.H690N	ENST00000355086	17/22	242	183	59	277	276	1	strelka-varscan-mutect	SRGAP1,missense_variant,p.His690Asn,ENST00000355086,NM_020762.2;SRGAP1,missense_variant,p.His627Asn,ENST00000631006,;SRGAP1,missense_variant,p.His627Asn,ENST00000543397,;RP11-196H14.4,intron_variant,,ENST00000535806,;SRGAP1,non_coding_transcript_exon_variant,,ENST00000537585,;	A	ENST00000355086	Transcript	missense_variant	2592/23331	2068/3258	690/1085	H/N	Cat/Aat		1		1	SRGAP1	HGNC	HGNC:17382	protein_coding	YES	CCDS8967.1	ENSP00000347198	Q7Z6B7		UPI00001A9CB9	NM_020762.2	tolerated(0.16)		17/22		Low_complexity_(Seg):seg,PROSITE_profiles:PS50238,hmmpanther:PTHR14166:SF15,hmmpanther:PTHR14166,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	64111910	64111910	C	A	1	0	0	0	0	1	0	0	0	15504	594	21	2		2	SRGAP1	12	64111910	Missense_Mutation	SNP	C	C3N-00551_TP	7108066	64111910	69163399	425	17104											
RAP1B	0	.	GRCh38	chr12	68654156	68654156	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatacatgaaaaatggacaAggatttgcattagtttattc	15	15	7	4	0	0	1	0	1	0	0	1	3	0	3	0	2	2	2	0	2	7	7	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.228A>G	p.=	p.Q76Q	ENST00000250559	5/8	184	168	16	205	205	0	varscan-mutect	RAP1B,synonymous_variant,p.=,ENST00000250559,;RAP1B,synonymous_variant,p.=,ENST00000393436,NM_015646.5,NM_001010942.2;RAP1B,synonymous_variant,p.=,ENST00000450214,NM_001251917.1,NM_001251918.1;RAP1B,synonymous_variant,p.=,ENST00000540209,NM_001251921.1;RAP1B,synonymous_variant,p.=,ENST00000537460,;RAP1B,synonymous_variant,p.=,ENST00000378985,;RAP1B,synonymous_variant,p.=,ENST00000539091,;RAP1B,synonymous_variant,p.=,ENST00000543393,;RAP1B,synonymous_variant,p.=,ENST00000425247,;RAP1B,synonymous_variant,p.=,ENST00000543697,;RAP1B,synonymous_variant,p.=,ENST00000341355,;RAP1B,synonymous_variant,p.=,ENST00000541216,;RAP1B,synonymous_variant,p.=,ENST00000545270,;RAP1B,synonymous_variant,p.=,ENST00000542018,;RAP1B,synonymous_variant,p.=,ENST00000534899,;RAP1B,synonymous_variant,p.=,ENST00000538283,;RAP1B,synonymous_variant,p.=,ENST00000538980,;RAP1B,synonymous_variant,p.=,ENST00000540781,;RAP1B,synonymous_variant,p.=,ENST00000541167,;RAP1B,synonymous_variant,p.=,ENST00000545720,;RAP1B,synonymous_variant,p.=,ENST00000453560,;RAP1B,synonymous_variant,p.=,ENST00000535492,;RAP1B,intron_variant,,ENST00000542145,NM_001251922.1;RAP1B,downstream_gene_variant,,ENST00000538877,;RAP1B,downstream_gene_variant,,ENST00000422358,;RAP1B,downstream_gene_variant,,ENST00000485252,;RAP1B,non_coding_transcript_exon_variant,,ENST00000463493,;RAP1B,downstream_gene_variant,,ENST00000460800,;RAP1B,non_coding_transcript_exon_variant,,ENST00000544639,;RAP1B,non_coding_transcript_exon_variant,,ENST00000541968,;RAP1B,downstream_gene_variant,,ENST00000501412,;	G	ENST00000250559	Transcript	synonymous_variant	459/13438	228/555	76/184	Q	caA/caG		1		1	RAP1B	HGNC	HGNC:9857	protein_coding	YES	CCDS8984.1	ENSP00000250559	P61224	A0A024RB87	UPI0000001221				5/8		Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	53	68654156	68654156	A	G	1	0	0	0	0	0	0	0	1	13195	69	3	5		5	RAP1B	12	68654156	Silent	SNP	A	C3N-00551_TP	4542246	68654156	64621153	426	17105											
CCT2	0	.	GRCh38	chr12	69589489	69589489	+	Missense_Mutation	SNP	G	G	T																															ggttggttttatttagttccGatgaagttaaattccgtcaa																								rs368079574		C3N-00551_TP	C3N-00551_NB	G	G																c.451G>T	p.Asp151Tyr	p.D151Y	ENST00000299300	7/16	204	188	16	234	234	0	strelka-varscan-mutect	CCT2,missense_variant,p.Asp104Tyr,ENST00000543146,NM_001198842.1;CCT2,missense_variant,p.Asp151Tyr,ENST00000299300,NM_006431.2;CCT2,missense_variant,p.Asp151Tyr,ENST00000544368,;MIR3913-1,upstream_gene_variant,,ENST00000577744,;MIR3913-2,downstream_gene_variant,,ENST00000637916,;CCT2,missense_variant,p.Asp151Tyr,ENST00000550010,;CCT2,non_coding_transcript_exon_variant,,ENST00000548787,;CCT2,non_coding_transcript_exon_variant,,ENST00000551620,;CCT2,upstream_gene_variant,,ENST00000553169,;CCT2,downstream_gene_variant,,ENST00000550638,;CCT2,downstream_gene_variant,,ENST00000546859,;CCT2,downstream_gene_variant,,ENST00000551899,;CCT2,downstream_gene_variant,,ENST00000549933,;CCT2,downstream_gene_variant,,ENST00000550455,;CCT2,upstream_gene_variant,,ENST00000546850,;	T	ENST00000299300	Transcript	missense_variant	639/2041	451/1608	151/535	D/Y	Gat/Tat	rs368079574	1		1	CCT2	HGNC	HGNC:1615	protein_coding	YES	CCDS8991.1	ENSP00000299300	P78371	V9HW96	UPI0000136AF3	NM_006431.2	deleterious(0)		7/16		hmmpanther:PTHR11353:SF23,hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02341,Pfam_domain:PF00118																	MODERATE	1	SNV	1			1										PASS		rs368079574	.												T	3	4	53	69589489	69589489	G	T	1	0	0	0	0	1	0	0	0	2654	1072	37	1		1	CCT2	12	69589489	Missense_Mutation	SNP	G	C3N-00551_TP	935333	69589489	63685820	427	17106	368	2									
CCT2	0	.	GRCh38	chr12	69589490	69589490	+	Missense_Mutation	SNP	A	A	T																															gttggttttatttagttccgAtgaagttaaattccgtcaag																								novel		C3N-00551_TP	C3N-00551_NB	A	A																c.452A>T	p.Asp151Val	p.D151V	ENST00000299300	7/16	205	189	16	237	237	0	strelka-varscan-mutect	CCT2,missense_variant,p.Asp104Val,ENST00000543146,NM_001198842.1;CCT2,missense_variant,p.Asp151Val,ENST00000299300,NM_006431.2;CCT2,missense_variant,p.Asp151Val,ENST00000544368,;MIR3913-1,upstream_gene_variant,,ENST00000577744,;MIR3913-2,downstream_gene_variant,,ENST00000637916,;CCT2,missense_variant,p.Asp151Val,ENST00000550010,;CCT2,non_coding_transcript_exon_variant,,ENST00000548787,;CCT2,non_coding_transcript_exon_variant,,ENST00000551620,;CCT2,upstream_gene_variant,,ENST00000553169,;CCT2,downstream_gene_variant,,ENST00000550638,;CCT2,downstream_gene_variant,,ENST00000546859,;CCT2,downstream_gene_variant,,ENST00000551899,;CCT2,downstream_gene_variant,,ENST00000549933,;CCT2,downstream_gene_variant,,ENST00000550455,;CCT2,upstream_gene_variant,,ENST00000546850,;	T	ENST00000299300	Transcript	missense_variant	640/2041	452/1608	151/535	D/V	gAt/gTt		1		1	CCT2	HGNC	HGNC:1615	protein_coding	YES	CCDS8991.1	ENSP00000299300	P78371	V9HW96	UPI0000136AF3	NM_006431.2	deleterious(0)		7/16		hmmpanther:PTHR11353:SF23,hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02341,Pfam_domain:PF00118																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	69589490	69589490	A	T	1	0	0	0	0	1	0	0	0	2654	347	12	4		4	CCT2	12	69589490	Missense_Mutation	SNP	A	C3N-00551_TP	1	69589490	63685819	428	17107	368	2									
NAV3	0	.	GRCh38	chr12	78197265	78197265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaattgcaacaatatctaGctaacctggctgaacagtgc	14	9	9	9	0	1	1	0	1	1	0	1	2	1	2	1	2	6	3	1	2	7	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.6310G>C	p.Ala2104Pro	p.A2104P	ENST00000397909	35/40	99	68	31	93	93	0	strelka-varscan-mutect	NAV3,missense_variant,p.Ala2104Pro,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Ala2082Pro,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Ala977Pro,ENST00000552895,;NAV3,missense_variant,p.Ala704Pro,ENST00000550788,;NAV3,upstream_gene_variant,,ENST00000551162,;NAV3,upstream_gene_variant,,ENST00000547884,;	C	ENST00000397909	Transcript	missense_variant	6483/9821	6310/7158	2104/2385	A/P	Gct/Cct		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	deleterious(0)		35/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	78197265	78197265	G	C	1	0	0	0	0	1	0	0	0	10194	971	34	4		4	NAV3	12	78197265	Missense_Mutation	SNP	G	C3N-00551_TP	8607775	78197265	55078044	429	17108											
KERA	0	.	GRCh38	chr12	91056007	91056007	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttagctgggtggcattcTcaaatggcttttcaggaatg	9	14	11	7	0	3	0	2	0	2	0	4	1	3	1	0	4	1	3	0	4	3	4	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.275A>C	p.Glu92Ala	p.E92A	ENST00000266719	2/3	120	85	35	138	138	0	strelka-varscan-mutect	KERA,missense_variant,p.Glu92Ala,ENST00000266719,NM_007035.3;	G	ENST00000266719	Transcript	missense_variant	523/2162	275/1059	92/352	E/A	gAg/gCg		1		-1	KERA	HGNC	HGNC:6309	protein_coding	YES	CCDS9037.1	ENSP00000266719	O60938		UPI000000161F	NM_007035.3	tolerated(0.63)		2/3		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF133,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	91056007	91056007	T	G	1	0	0	0	0	1	0	0	0	8063	1551	54	5		5	KERA	12	91056007	Missense_Mutation	SNP	T	C3N-00551_TP	12858742	91056007	42219302	430	17109											
STAB2	0	.	GRCh38	chr12	103712441	103712441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaacgggaccatctgcaCaggcaagcgaaggaaggaat	16	3	14	8	2	1	0	0	0	1	0	1	5	1	4	1	5	3	2	1	5	5	0	rs138119925		C3N-00551_TP	C3N-00551_NB	C	C																c.4409C>A	p.Thr1470Lys	p.T1470K	ENST00000388887	41/69	215	147	68	217	217	0	strelka-varscan-mutect	STAB2,missense_variant,p.Thr1470Lys,ENST00000388887,NM_017564.9;STAB2,non_coding_transcript_exon_variant,,ENST00000549798,;	A	ENST00000388887	Transcript	missense_variant,splice_region_variant	4613/8251	4409/7656	1470/2551	T/K	aCa/aAa	rs138119925	1		1	STAB2	HGNC	HGNC:18629	protein_coding	YES	CCDS31888.1	ENSP00000373539	Q8WWQ8		UPI00001ADDF4	NM_017564.9	tolerated(0.18)		41/69		PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:2.40.155.10,SMART_domains:SM00181,SMART_domains:SM00179																	MODERATE	1	SNV	1			1										PASS		rs138119925	.												A	3	1	53	103712441	103712441	C	A	1	0	0	0	0	1	0	0	0	15616	492	17	2		2	STAB2	12	103712441	Missense_Mutation	SNP	C	C3N-00551_TP	12656434	103712441	29562868	431	17110											
BTBD11	0	.	GRCh38	chr12	107617432	107617432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggctgcagcccacggaCacaggtaggctaggatgggc	9	4	16	12	1	0	0	0	0	0	0	0	2	0	2	2	6	2	4	2	6	2	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2227C>A	p.His743Asn	p.H743N	ENST00000280758	9/17	114	80	34	146	146	0	strelka-varscan-mutect	BTBD11,missense_variant,p.His743Asn,ENST00000280758,NM_001018072.1;BTBD11,missense_variant,p.His743Asn,ENST00000490090,;BTBD11,missense_variant,p.His280Asn,ENST00000357167,NM_001017523.1;BTBD11,intron_variant,,ENST00000420571,;RP11-128P10.1,intron_variant,,ENST00000548473,;	A	ENST00000280758	Transcript	missense_variant	2755/5767	2227/3315	743/1104	H/N	Cac/Aac		1		1	BTBD11	HGNC	HGNC:23844	protein_coding	YES	CCDS31893.1	ENSP00000280758	A6QL63		UPI000051901E	NM_001018072.1	deleterious(0)		9/17		hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF76,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	53	107617432	107617432	C	A	1	0	0	0	0	1	0	0	0	1714	492	17	2		2	BTBD11	12	107617432	Missense_Mutation	SNP	C	C3N-00551_TP	3904991	107617432	25657877	432	17111											
ATP2A2	0	.	GRCh38	chr12	110339719	110339719	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaactttattaaatatGaggttagctaatgaaaagtt	15	14	7	5	0	0	2	0	2	0	0	0	2	0	2	1	1	3	3	1	1	9	7	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1759G>T	p.Glu587Ter	p.E587*	ENST00000539276	13/20	295	253	42	365	364	1	strelka-varscan-mutect	ATP2A2,stop_gained,p.Glu587Ter,ENST00000308664,NM_001681.3;ATP2A2,stop_gained,p.Glu587Ter,ENST00000539276,NM_170665.3;ATP2A2,stop_gained,p.Glu478Ter,ENST00000548169,;ATP2A2,splice_region_variant,,ENST00000377685,;ATP2A2,upstream_gene_variant,,ENST00000547792,;	T	ENST00000539276	Transcript	stop_gained,splice_region_variant	1868/4094	1759/3129	587/1042	E/*	Gag/Tag		1		1	ATP2A2	HGNC	HGNC:812	protein_coding	YES	CCDS9144.1	ENSP00000440045	P16615	A0A0S2Z3L2	UPI0000001C3A	NM_170665.3			13/20		Gene3D:3.40.1110.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF234,Superfamily_domains:SSF56784,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01116																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	53	110339719	110339719	G	T	1	0	0	0	0	0	1	0	0	1290	1304	45	2		2	ATP2A2	12	110339719	Nonsense_Mutation	SNP	G	C3N-00551_TP	2722287	110339719	22935590	433	17112											
SETD1B	0	.	GRCh38	chr12	121810633	121810633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacgcccccctcgtcacGcccctccagcaccggcctgg	4	4	8	25	4	1	0	1	0	0	0	3	0	2	0	10	2	1	1	10	2	0	0			C3N-00551_TP	C3N-00551_NB	G	G																c.1688G>T	p.Arg563Leu	p.R563L	ENST00000542440	6/18	104	75	29	109	108	1	strelka-varscan-mutect	SETD1B,missense_variant,p.Arg563Leu,ENST00000542440,NM_015048.1;SETD1B,missense_variant,p.Arg563Leu,ENST00000604567,;SETD1B,missense_variant,p.Arg563Leu,ENST00000619791,;SETD1B,missense_variant,p.Arg563Leu,ENST00000267197,;	T	ENST00000542440	Transcript	missense_variant	1756/8185	1688/5772	563/1923	R/L	cGc/cTc	COSM4638143	1		1	SETD1B	HGNC	HGNC:29187	protein_coding	YES	CCDS53838.1	ENSP00000442924	Q9UPS6		UPI00006C12ED	NM_015048.1	deleterious(0)		6/18		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF296,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	5		1	1										PASS		rs942845427	.												T	3	4	53	121810633	121810633	G	T	1	0	0	0	0	1	0	0	0	14408	1087	38	1		1	SETD1B	12	121810633	Missense_Mutation	SNP	G	C3N-00551_TP	11470914	121810633	11464676	434	17113											
LRRC43	0	.	GRCh38	chr12	122186195	122186195	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcccctcttccaggtcacCctggtggataaagacctcct	7	11	7	16	0	3	1	1	0	2	1	6	2	5	2	6	3	0	0	6	3	2	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.417C>T	p.=	p.T139T	ENST00000339777	3/12	125	87	38	130	130	0	strelka-varscan-mutect	LRRC43,synonymous_variant,p.=,ENST00000339777,NM_152759.4,NM_001098519.1;LRRC43,5_prime_UTR_variant,,ENST00000537729,;LRRC43,non_coding_transcript_exon_variant,,ENST00000538800,;LRRC43,intron_variant,,ENST00000541498,;LRRC43,non_coding_transcript_exon_variant,,ENST00000537113,;	T	ENST00000339777	Transcript	synonymous_variant	445/2028	417/1971	139/656	T	acC/acT		1		1	LRRC43	HGNC	HGNC:28562	protein_coding	YES	CCDS45001.1	ENSP00000344233	Q8N309		UPI00015347BE	NM_152759.4,NM_001098519.1			3/12		Low_complexity_(Seg):seg,hmmpanther:PTHR24365:SF373,hmmpanther:PTHR24365,Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	53	122186195	122186195	C	T	1	0	0	0	0	0	0	0	1	8897	637	22	3		3	LRRC43	12	122186195	Silent	SNP	C	C3N-00551_TP	375562	122186195	11089114	435	17114											
TMEM132C	0	.	GRCh38	chr12	128544000	128544000	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcctgagtgctcagaccCgtgagccccggcagtggggc	7	6	14	14	2	1	3	1	2	0	1	2	3	2	3	4	3	2	2	4	3	0	0			C3N-00551_TP	C3N-00551_NB	C	C																c.1018C>A	p.Arg340Ser	p.R340S	ENST00000435159	3/9	77	45	32	113	113	0	strelka-varscan-mutect	TMEM132C,missense_variant,p.Arg340Ser,ENST00000435159,NM_001136103.2;	A	ENST00000435159	Transcript	missense_variant	1018/4947	1018/3327	340/1108	R/S	Cgt/Agt	COSM5162262	1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2	tolerated(1)		3/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4											1						MODERATE	1	SNV	5		1	1										PASS		rs1002960609	.												A	3	1	53	128544000	128544000	C	A	1	0	0	0	0	1	0	0	0	16491	652	23	1		1	TMEM132C	12	128544000	Missense_Mutation	SNP	C	C3N-00551_TP	6357805	128544000	4731309	436	17115											
TMEM132C	0	.	GRCh38	chr12	128705909	128705909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaatgaggccgaactcCtggagagcatgggggatgcg	9	7	17	8	2	0	2	0	1	0	1	1	5	1	3	2	5	3	2	2	5	2	1			C3N-00551_TP	C3N-00551_NB	C	C																c.2941C>A	p.Leu981Met	p.L981M	ENST00000435159	9/9	137	110	27	170	170	0	strelka-varscan-mutect	TMEM132C,missense_variant,p.Leu981Met,ENST00000435159,NM_001136103.2;	A	ENST00000435159	Transcript	missense_variant	2941/4947	2941/3327	981/1108	L/M	Ctg/Atg	COSM4485509,COSM4485510	1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2	deleterious(0)		9/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	53	128705909	128705909	C	A	1	0	0	0	0	1	0	0	0	16491	680	24	2		2	TMEM132C	12	128705909	Missense_Mutation	SNP	C	C3N-00551_TP	161909	128705909	4569400	437	17116											
TUBA3C	0	.	GRCh38	chr13	19177181	19177181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggggcgtaggtggccagggGgaagtggatgcgggggtacg	6	5	24	6	4	0	0	0	0	0	0	0	2	0	2	1	9	2	2	1	9	3	2			C3N-00551_TP	C3N-00551_NB	G	G																c.802C>A	p.Pro268Thr	p.P268T	ENST00000400113	4/5	203	174	29	250	250	0	strelka-varscan-mutect	TUBA3C,missense_variant,p.Pro268Thr,ENST00000400113,NM_006001.2;TUBA3C,missense_variant,p.Pro268Thr,ENST00000618094,;RP11-408E5.8,downstream_gene_variant,,ENST00000612362,;	T	ENST00000400113	Transcript	missense_variant	907/1551	802/1353	268/450	P/T	Ccc/Acc	COSM3467501	1		-1	TUBA3C	HGNC	HGNC:12408	protein_coding	YES	CCDS9284.1	ENSP00000382982	Q13748	Q1ZYQ1	UPI0000027DB1	NM_006001.2	deleterious_low_confidence(0)		4/5		hmmpanther:PTHR11588:SF94,hmmpanther:PTHR11588,Gene3D:3.40.50.1440,Pfam_domain:PF03953,SMART_domains:SM00865,Superfamily_domains:SSF55307											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	53	19177181	19177181	G	T	1	0	0	0	0	1	0	0	0	17256	1232	43	2		2	TUBA3C	13	19177181	Missense_Mutation	SNP	G	C3N-00551_TP		19177181	95187147	438	17117											
POSTN	0	.	GRCh38	chr13	37584019	37584019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtattctccatctggcCtcagagcagatgccaagcct	10	10	9	12	0	3	2	1	0	2	2	4	2	3	2	4	1	3	2	4	1	3	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1193G>A	p.Arg398Lys	p.R398K	ENST00000379747	9/23	154	134	20	228	228	0	strelka-varscan-mutect	POSTN,missense_variant,p.Arg398Lys,ENST00000379747,NM_006475.2;POSTN,missense_variant,p.Arg398Lys,ENST00000541179,NM_001135936.1,NM_001135935.1;POSTN,missense_variant,p.Arg398Lys,ENST00000379749,;POSTN,missense_variant,p.Arg398Lys,ENST00000379743,NM_001286665.1;POSTN,missense_variant,p.Arg398Lys,ENST00000541481,NM_001286666.1,NM_001286667.1;POSTN,missense_variant,p.Arg398Lys,ENST00000379742,NM_001135934.1;	T	ENST00000379747	Transcript	missense_variant	1311/3373	1193/2511	398/836	R/K	aGg/aAg		1		-1	POSTN	HGNC	HGNC:16953	protein_coding	YES	CCDS9364.1	ENSP00000369071	Q15063	A0A024RDS2	UPI000013CEB8	NM_006475.2	tolerated(0.67)		9/23		Gene3D:2.30.180.10,Pfam_domain:PF02469,PIRSF_domain:PIRSF016553,PROSITE_profiles:PS50213,Superfamily_domains:SSF82153																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	37584019	37584019	C	T	1	0	0	0	0	1	0	0	0	12373	681	24	3		3	POSTN	13	37584019	Missense_Mutation	SNP	C	C3N-00551_TP	18406838	37584019	76780309	439	17118											
DZIP1	0	.	GRCh38	chr13	95586047	95586047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttttgataaacatctcagGgacattagttccaccgactg	11	14	7	9	1	1	1	1	1	1	0	3	3	2	2	2	1	1	1	2	1	3	6	rs767706909		C3N-00551_TP	C3N-00551_NB	G	G																c.2308C>A	p.Pro770Thr	p.P770T	ENST00000347108	19/21	121	101	20	200	200	0	strelka-varscan-mutect	DZIP1,missense_variant,p.Pro751Thr,ENST00000361396,NM_014934.4;DZIP1,missense_variant,p.Pro770Thr,ENST00000347108,;DZIP1,missense_variant,p.Pro751Thr,ENST00000361156,;DZIP1,missense_variant,p.Pro770Thr,ENST00000376829,NM_198968.3;DZIP1,non_coding_transcript_exon_variant,,ENST00000485031,;DZIP1,non_coding_transcript_exon_variant,,ENST00000479518,;	T	ENST00000347108	Transcript	missense_variant	2741/7068	2308/2604	770/867	P/T	Cct/Act	rs767706909	1		-1	DZIP1	HGNC	HGNC:20908	protein_coding	YES	CCDS9478.1	ENSP00000257312	Q86YF9		UPI000000D9B8		tolerated(0.2)		19/21		hmmpanther:PTHR21502,hmmpanther:PTHR21502:SF5																	MODERATE	1	SNV	5			1										PASS		rs767706909	.												T	3	4	53	95586047	95586047	G	T	1	0	0	0	0	1	0	0	0	4687	1232	43	2		2	DZIP1	13	95586047	Missense_Mutation	SNP	G	C3N-00551_TP	58002028	95586047	18778281	440	17119											
OR4K5	0	.	GRCh38	chr14	19920649	19920649	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgtctgaatttgtactgTtgggactctgtagttctcaa	7	17	11	6	0	3	1	1	1	3	0	4	2	3	2	0	2	1	4	0	2	4	5	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.43T>A	p.Leu15Met	p.L15M	ENST00000315915	1/1	88	80	8	123	122	1	strelka-varscan-mutect	OR4K5,missense_variant,p.Leu15Met,ENST00000315915,NM_001005483.1;	A	ENST00000315915	Transcript	missense_variant	68/1078	43/972	15/323	L/M	Ttg/Atg		1		1	OR4K5	HGNC	HGNC:14745	protein_coding	YES	CCDS32024.1	ENSP00000319511	Q8NGD3	A0A126GVN5	UPI0000061E9E	NM_001005483.1	deleterious(0.01)		1/1		hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF46,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1412627946	.												A	3	1	53	19920649	19920649	T	A	1	0	0	0	0	1	0	0	0	11150	1722	60	4		4	OR4K5	14	19920649	Missense_Mutation	SNP	T	C3N-00551_TP		19920649	87123069	441	17120											
OR4K5	0	.	GRCh38	chr14	19921551	19921551	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaatttctgaaatgtcActagtagtgagaacttcctt	13	13	9	6	0	2	3	1	2	1	2	3	5	3	3	1	1	1	1	1	1	5	5	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.945A>T	p.=	p.S315S	ENST00000315915	1/1	127	106	21	172	171	1	strelka-varscan-mutect	OR4K5,synonymous_variant,p.=,ENST00000315915,NM_001005483.1;	T	ENST00000315915	Transcript	synonymous_variant	970/1078	945/972	315/323	S	tcA/tcT		1		1	OR4K5	HGNC	HGNC:14745	protein_coding	YES	CCDS32024.1	ENSP00000319511	Q8NGD3	A0A126GVN5	UPI0000061E9E	NM_001005483.1			1/1		Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	53	19921551	19921551	A	T	1	0	0	0	0	0	0	0	1	11150	146	6	4		4	OR4K5	14	19921551	Silent	SNP	A	C3N-00551_TP	902	19921551	87122167	442	17121											
RNASE11	0	.	GRCh38	chr14	20584028	20584028	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattttccagttctaggctCtcacagcagcttatgccagg	8	13	9	11	0	2	0	1	0	2	0	4	0	3	0	2	2	3	5	2	2	3	6	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.447G>T	p.Glu149Asp	p.E149D	ENST00000553849	2/2	239	203	36	287	286	1	strelka-varscan-mutect	RNASE11,missense_variant,p.Glu149Asp,ENST00000553849,NM_145250.3;RNASE11,missense_variant,p.Glu149Asp,ENST00000398009,;RNASE11,missense_variant,p.Glu149Asp,ENST00000432835,;RNASE11,missense_variant,p.Glu149Asp,ENST00000555841,;RNASE11,missense_variant,p.Glu149Asp,ENST00000620912,;RNASE11,missense_variant,p.Glu149Asp,ENST00000398008,;RNASE11,missense_variant,p.Glu149Asp,ENST00000443456,;RNASE11,missense_variant,p.Glu149Asp,ENST00000557105,;RNASE11,missense_variant,p.Glu149Asp,ENST00000557503,;RNASE11,downstream_gene_variant,,ENST00000413502,;RP11-14J7.7,downstream_gene_variant,,ENST00000555283,;RNASE11,downstream_gene_variant,,ENST00000554842,;RP11-14J7.6,upstream_gene_variant,,ENST00000554006,;RP11-14J7.6,upstream_gene_variant,,ENST00000553604,;RP11-14J7.6,upstream_gene_variant,,ENST00000554529,;RP11-14J7.6,upstream_gene_variant,,ENST00000556487,;RP11-14J7.7,3_prime_UTR_variant,,ENST00000335950,;	A	ENST00000553849	Transcript	missense_variant	632/1101	447/600	149/199	E/D	gaG/gaT		1		-1	RNASE11	HGNC	HGNC:19269	protein_coding	YES	CCDS9553.1	ENSP00000451318	Q8TAA1	Q5GAN5	UPI000000CC00	NM_145250.3	tolerated(0.16)		2/2		hmmpanther:PTHR11437:SF22,hmmpanther:PTHR11437,Pfam_domain:PF00074,Gene3D:3.10.130.10,Superfamily_domains:SSF54076,PD000535																	MODERATE	1	SNV	1			1										PASS		rs1344618736	.												A	3	1	53	20584028	20584028	C	A	1	0	0	0	0	1	0	0	0	13580	912	32	2		2	RNASE11	14	20584028	Missense_Mutation	SNP	C	C3N-00551_TP	662477	20584028	86459690	443	17122											
OR4E2	0	.	GRCh38	chr14	21665780	21665780	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacactcagctgaagggcGccggaaagccctgtctacct	12	6	10	13	2	2	1	1	1	1	0	2	2	2	2	3	2	4	1	3	2	5	1	rs200419591		C3N-00551_TP	C3N-00551_NB	G	G																c.698G>C	p.Arg233Pro	p.R233P	ENST00000408935	1/1	97	85	12	126	126	0	strelka-varscan-mutect	OR4E2,missense_variant,p.Arg233Pro,ENST00000408935,NM_001001912.2;OR4E1,downstream_gene_variant,,ENST00000610316,;	C	ENST00000408935	Transcript	missense_variant	698/942	698/942	233/313	R/P	cGc/cCc	rs200419591,COSM1315950	1		1	OR4E2	HGNC	HGNC:8297	protein_coding	YES	CCDS41916.1	ENSP00000386195	Q8NGC2	A0A126GVR8	UPI0000EE498D	NM_001001912.2	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF160,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs200419591	.												C	3	2	53	21665780	21665780	G	C	1	0	0	0	0	1	0	0	0	11137	1087	38	4		4	OR4E2	14	21665780	Missense_Mutation	SNP	G	C3N-00551_TP	1081752	21665780	85377938	444	17123											
OR6J1	0	.	GRCh38	chr14	22634695	22634695	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgatgagcaggttcccCagaagagtcagcaggaacgt	13	6	14	8	1	1	5	1	2	0	3	2	7	2	6	2	2	3	3	2	2	2	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.117G>T	p.=	p.L39L	ENST00000540461	1/1	196	172	24	204	204	0	strelka-varscan-mutect	OR6J1,synonymous_variant,p.=,ENST00000540461,;AC243945.1,downstream_gene_variant,,ENST00000623775,;	A	ENST00000540461	Transcript	synonymous_variant	117/1044	117/1044	39/347	L	ctG/ctT		1		-1	OR6J1	HGNC	HGNC:14707	protein_coding	YES		ENSP00000437629	Q8NGC5		UPI000462094B				1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR26454:SF53,hmmpanther:PTHR26454,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												A	2	1	53	22634695	22634695	C	A	1	0	0	0	0	0	0	0	1	11270	581	21	2		2	OR6J1	14	22634695	Silent	SNP	C	C3N-00551_TP	968915	22634695	84409023	445	17124											
CDH24	0	.	GRCh38	chr14	23054274	23054274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtcctgggcccggagcCggcccaccagtgtgccaggt	4	6	16	15	2	0	0	0	0	0	0	1	1	1	1	6	5	2	0	6	5	0	0	rs757586503		C3N-00551_TP	C3N-00551_NB	C	C																c.839G>T	p.Arg280Leu	p.R280L	ENST00000397359	6/14	99	81	18	114	114	0	strelka-varscan-mutect	CDH24,missense_variant,p.Arg280Leu,ENST00000397359,NM_022478.3;CDH24,missense_variant,p.Arg280Leu,ENST00000487137,NM_144985.3;CDH24,missense_variant,p.Arg280Leu,ENST00000267383,;CDH24,missense_variant,p.Arg280Leu,ENST00000554034,;CDH24,intron_variant,,ENST00000610348,;ACIN1,downstream_gene_variant,,ENST00000262710,NM_014977.3;ACIN1,downstream_gene_variant,,ENST00000457657,NM_001164815.1;ACIN1,downstream_gene_variant,,ENST00000605057,;ACIN1,downstream_gene_variant,,ENST00000555053,NM_001164814.1;ACIN1,downstream_gene_variant,,ENST00000557515,;ACIN1,downstream_gene_variant,,ENST00000397341,;ACIN1,downstream_gene_variant,,ENST00000357481,NM_001164817.1;ACIN1,downstream_gene_variant,,ENST00000338631,NM_001164816.1;CDH24,upstream_gene_variant,,ENST00000485922,;ACIN1,downstream_gene_variant,,ENST00000473758,;	A	ENST00000397359	Transcript	missense_variant	1099/3552	839/2460	280/819	R/L	cGg/cTg	rs757586503	1		-1	CDH24	HGNC	HGNC:14265	protein_coding	YES	CCDS9585.1	ENSP00000380517	Q86UP0		UPI0000190F86	NM_022478.3	deleterious(0)		6/14		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF272,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313																	MODERATE		SNV	5			1										PASS		rs757586503	.												A	3	1	53	23054274	23054274	C	A	1	0	0	0	0	1	0	0	0	2812	652	23	1		1	CDH24	14	23054274	Missense_Mutation	SNP	C	C3N-00551_TP	419579	23054274	83989444	446	17125											
MYH7	0	.	GRCh38	chr14	23415260	23415260	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttcagctcctctgccAtcatggcggcctgtgtgcag	4	12	10	15	1	4	0	2	0	2	0	5	0	5	0	4	2	3	2	4	2	0	2	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.5294T>A	p.Met1765Lys	p.M1765K	ENST00000355349	37/40	662	574	88	643	642	1	strelka-varscan-mutect	MYH7,missense_variant,p.Met1765Lys,ENST00000355349,NM_000257.3;MIR208B,downstream_gene_variant,,ENST00000401172,;CTD-2201G16.1,upstream_gene_variant,,ENST00000557368,;	T	ENST00000355349	Transcript	missense_variant	5457/6087	5294/5808	1765/1935	M/K	aTg/aAg		1		-1	MYH7	HGNC	HGNC:7577	protein_coding	YES	CCDS9601.1	ENSP00000347507	P12883		UPI000014019B	NM_000257.3	deleterious(0)		37/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF413																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	23415260	23415260	A	T	1	0	0	0	0	1	0	0	0	10039	217	8	4		4	MYH7	14	23415260	Missense_Mutation	SNP	A	C3N-00551_TP	360986	23415260	83628458	447	17126											
MYH7	0	.	GRCh38	chr14	23425358	23425358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggatacgcgtgatgatgcGgctcagcctctcgtccctca	6	10	11	14	4	3	2	2	2	1	0	5	3	4	3	2	2	3	1	2	2	1	1	rs727503258		C3N-00551_TP	C3N-00551_NB	G	G																c.2347C>A	p.Arg783Ser	p.R783S	ENST00000355349	21/40	452	379	73	518	518	0	strelka-varscan-mutect	MYH7,missense_variant,p.Arg783Ser,ENST00000355349,NM_000257.3;	T	ENST00000355349	Transcript	missense_variant	2510/6087	2347/5808	783/1935	R/S	Cgc/Agc	rs727503258	1		-1	MYH7	HGNC	HGNC:7577	protein_coding	YES	CCDS9601.1	ENSP00000347507	P12883		UPI000014019B	NM_000257.3	tolerated(0.23)		21/40		Gene3D:1wdcA00,PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF413,SMART_domains:SM00015,Superfamily_domains:SSF52540										uncertain_significance,pathogenic							MODERATE	1	SNV	1		1	1										PASS		rs727503258	.												T	3	4	53	23425358	23425358	G	T	1	0	0	0	0	1	0	0	0	10039	1116	39	1		1	MYH7	14	23425358	Missense_Mutation	SNP	G	C3N-00551_TP	10098	23425358	83618360	448	17127											
TGM1	0	.	GRCh38	chr14	24262051	24262051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctcggatggtgccatctCcagctgcattgacaccgctg	7	9	10	15	2	1	1	0	1	1	0	3	2	1	2	4	2	3	3	4	2	0	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.302G>T	p.Gly101Val	p.G101V	ENST00000206765	2/15	331	291	40	289	289	0	strelka-varscan-mutect	TGM1,missense_variant,p.Gly101Val,ENST00000206765,NM_000359.2;TGM1,missense_variant,p.Gly101Val,ENST00000558074,;TGM1,intron_variant,,ENST00000544573,;RABGGTA,downstream_gene_variant,,ENST00000399409,NM_004581.5;RABGGTA,downstream_gene_variant,,ENST00000216840,NM_182836.2;RABGGTA,downstream_gene_variant,,ENST00000560777,;TGM1,upstream_gene_variant,,ENST00000559136,;RABGGTA,downstream_gene_variant,,ENST00000560521,;TGM1,downstream_gene_variant,,ENST00000560226,;TGM1,downstream_gene_variant,,ENST00000560478,;TGM1,downstream_gene_variant,,ENST00000560443,;TGM1,downstream_gene_variant,,ENST00000561067,;RABGGTA,downstream_gene_variant,,ENST00000560871,;RABGGTA,downstream_gene_variant,,ENST00000559551,;RABGGTA,downstream_gene_variant,,ENST00000560998,;RABGGTA,downstream_gene_variant,,ENST00000559974,;RABGGTA,downstream_gene_variant,,ENST00000558376,;RABGGTA,downstream_gene_variant,,ENST00000558649,;RABGGTA,downstream_gene_variant,,ENST00000561055,;RABGGTA,downstream_gene_variant,,ENST00000560243,;RABGGTA,downstream_gene_variant,,ENST00000559850,;	A	ENST00000206765	Transcript	missense_variant	426/2777	302/2454	101/817	G/V	gGa/gTa		1		-1	TGM1	HGNC	HGNC:11777	protein_coding	YES	CCDS9622.1	ENSP00000206765	P22735		UPI000000164D	NM_000359.2	tolerated(0.14)		2/15		hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF49,Gene3D:2.60.40.10,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	24262051	24262051	C	A	1	0	0	0	0	1	0	0	0	16262	855	30	2		2	TGM1	14	24262051	Missense_Mutation	SNP	C	C3N-00551_TP	836693	24262051	82781667	449	17128											
FRMD6	0	.	GRCh38	chr14	51708207	51708207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccgactggatgacgtcGctgttcattactacagattg	8	13	10	10	3	1	2	1	1	0	1	3	4	2	3	1	1	2	2	1	1	2	4	rs374236968		C3N-00551_TP	C3N-00551_NB	G	G																c.688G>T	p.Ala230Ser	p.A230S	ENST00000344768	7/14	184	146	38	195	195	0	strelka-varscan-mutect	FRMD6,missense_variant,p.Ala222Ser,ENST00000395718,NM_152330.3;FRMD6,missense_variant,p.Ala222Ser,ENST00000356218,NM_001042481.2;FRMD6,missense_variant,p.Ala153Ser,ENST00000554167,;FRMD6,missense_variant,p.Ala230Ser,ENST00000344768,NM_001267046.1;FRMD6,missense_variant,p.Ala120Ser,ENST00000557405,;FRMD6,upstream_gene_variant,,ENST00000555197,;FRMD6,downstream_gene_variant,,ENST00000555936,;FRMD6,non_coding_transcript_exon_variant,,ENST00000557183,;FRMD6,non_coding_transcript_exon_variant,,ENST00000554495,;	T	ENST00000344768	Transcript	missense_variant	884/2972	688/1869	230/622	A/S	Gct/Tct	rs374236968,COSM4051229,COSM956158	1		1	FRMD6	HGNC	HGNC:19839	protein_coding	YES	CCDS58318.1	ENSP00000343899	Q96NE9		UPI00000473F6	NM_001267046.1	deleterious(0.02)		7/14		Pfam_domain:PF00373,PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF9,SMART_domains:SM00295,Superfamily_domains:SSF50729											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs374236968	.												T	3	4	53	51708207	51708207	G	T	1	0	0	0	0	1	0	0	0	5924	1087	38	1		1	FRMD6	14	51708207	Missense_Mutation	SNP	G	C3N-00551_TP	27446156	51708207	55335511	450	17129											
RTN1	0	.	GRCh38	chr14	59605475	59605475	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacttctgaatctgctcctGagaaagggtgatctcaagct	10	12	10	9	0	3	3	1	3	3	1	5	4	4	3	1	1	3	3	1	1	4	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2005C>T	p.Gln669Ter	p.Q669*	ENST00000267484	5/9	156	137	19	196	196	0	strelka-varscan-mutect	RTN1,stop_gained,p.Gln669Ter,ENST00000267484,NM_021136.2;RTN1,stop_gained,p.Gln595Ter,ENST00000611068,;RTN1,stop_gained,p.Gln101Ter,ENST00000342503,NM_206852.2;RTN1,stop_gained,p.Gln86Ter,ENST00000395090,;RTN1,intron_variant,,ENST00000557422,;RTN1,non_coding_transcript_exon_variant,,ENST00000481205,;RTN1,non_coding_transcript_exon_variant,,ENST00000432103,;RTN1,non_coding_transcript_exon_variant,,ENST00000474911,;RTN1,non_coding_transcript_exon_variant,,ENST00000490111,;	A	ENST00000267484	Transcript	stop_gained	2341/3435	2005/2331	669/776	Q/*	Cag/Tag		1		-1	RTN1	HGNC	HGNC:10467	protein_coding	YES	CCDS9740.1	ENSP00000267484	Q16799		UPI00001352DA	NM_021136.2			5/9		PROSITE_profiles:PS50845,hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994,Pfam_domain:PF02453																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	53	59605475	59605475	G	A	1	0	0	0	0	0	1	0	0	13985	1299	45	3		3	RTN1	14	59605475	Nonsense_Mutation	SNP	G	C3N-00551_TP	7897268	59605475	47438243	451	17130											
TRMT5	0	.	GRCh38	chr14	60975526	60975526	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcaggaatctgaaacgTgatgcacagcatttccttgt	12	10	11	8	1	1	3	0	2	1	1	2	4	2	4	1	2	3	3	1	2	2	2	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1393A>T	p.Thr465Ser	p.T465S	ENST00000261249	4/5	131	102	29	129	129	0	strelka-varscan-mutect	TRMT5,missense_variant,p.Thr465Ser,ENST00000261249,NM_020810.3;TRMT5,downstream_gene_variant,,ENST00000555420,;TRMT5,downstream_gene_variant,,ENST00000553903,;RNU6-398P,downstream_gene_variant,,ENST00000384143,;RP11-193F5.1,intron_variant,,ENST00000553946,;RP11-193F5.4,upstream_gene_variant,,ENST00000556317,;	A	ENST00000261249	Transcript	missense_variant	1778/5573	1393/1530	465/509	T/S	Acg/Tcg		1		-1	TRMT5	HGNC	HGNC:23141	protein_coding	YES	CCDS32092.1	ENSP00000261249	Q32P41		UPI0000049FE8	NM_020810.3	tolerated(1)		4/5		Gene3D:3.40.50.150,HAMAP:MF_03152,PROSITE_profiles:PS51684,hmmpanther:PTHR23245,hmmpanther:PTHR23245:SF36,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	60975526	60975526	T	A	1	0	0	0	0	1	0	0	0	17072	1696	59	4		4	TRMT5	14	60975526	Missense_Mutation	SNP	T	C3N-00551_TP	1370051	60975526	46068192	452	17131											
PLEKHH1	0	.	GRCh38	chr14	67575469	67575469	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactatcggagccatgaggaCaaggtacttctcagcctcct	10	10	9	12	1	1	1	1	1	1	0	4	3	2	3	3	3	4	1	3	3	4	4	rs768872305		C3N-00551_TP	C3N-00551_NB	C	C																c.2166C>A	p.Asp722Glu	p.D722E	ENST00000329153	15/29	136	117	19	150	150	0	strelka-varscan-mutect	PLEKHH1,missense_variant,p.Asp722Glu,ENST00000329153,NM_020715.2;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000557971,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558386,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558981,;PLEKHH1,upstream_gene_variant,,ENST00000561370,;PLEKHH1,upstream_gene_variant,,ENST00000560100,;PLEKHH1,upstream_gene_variant,,ENST00000558296,;PLEKHH1,downstream_gene_variant,,ENST00000561456,;PLEKHH1,downstream_gene_variant,,ENST00000561135,;	A	ENST00000329153	Transcript	missense_variant	2298/6604	2166/4095	722/1364	D/E	gaC/gaA	rs768872305	1		1	PLEKHH1	HGNC	HGNC:17733	protein_coding	YES	CCDS45128.1	ENSP00000330278	Q9ULM0		UPI00001C1F64	NM_020715.2	tolerated(0.06)		15/29		PROSITE_profiles:PS50003,hmmpanther:PTHR22903:SF4,hmmpanther:PTHR22903,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		rs768872305	.												A	3	1	53	67575469	67575469	C	A	1	0	0	0	0	1	0	0	0	12169	492	17	2		2	PLEKHH1	14	67575469	Missense_Mutation	SNP	C	C3N-00551_TP	6599943	67575469	39468249	453	17132											
RGS6	0	.	GRCh38	chr14	72510218	72510218	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgagatattgaaggacCaggtggggcgggaccagttt	10	9	16	6	2	0	2	0	2	0	1	1	6	0	4	2	5	0	1	2	5	2	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1030C>A	p.Gln344Lys	p.Q344K	ENST00000553525	14/18	149	118	31	207	206	1	strelka-varscan-mutect	RGS6,missense_variant,p.Gln344Lys,ENST00000553530,NM_001204418.1,NM_004296.5,NM_001204420.1,NM_001204422.1;RGS6,missense_variant,p.Gln309Lys,ENST00000622468,;RGS6,missense_variant,p.Gln309Lys,ENST00000402788,NM_001204423.1;RGS6,missense_variant,p.Gln272Lys,ENST00000343854,;RGS6,missense_variant,p.Gln344Lys,ENST00000553525,NM_001204424.1;RGS6,missense_variant,p.Gln275Lys,ENST00000434263,;RGS6,missense_variant,p.Gln344Lys,ENST00000555571,;RGS6,missense_variant,p.Gln344Lys,ENST00000556437,NM_001204417.1,NM_001204421.1,NM_001204419.1,NM_001204416.1;RGS6,missense_variant,p.Gln344Lys,ENST00000355512,;RGS6,missense_variant,p.Gln344Lys,ENST00000404301,;RGS6,missense_variant,p.Gln344Lys,ENST00000407322,;RGS6,missense_variant,p.Gln344Lys,ENST00000406236,;RGS6,missense_variant,p.Gln205Lys,ENST00000554782,;RGS6,upstream_gene_variant,,ENST00000553519,;RGS6,missense_variant,p.Gln344Lys,ENST00000554474,;	A	ENST00000553525	Transcript	missense_variant	1553/2005	1030/1473	344/490	Q/K	Cag/Aag		1		1	RGS6	HGNC	HGNC:10002	protein_coding	YES	CCDS55924.1	ENSP00000451030	P49758		UPI00001698D0	NM_001204424.1	deleterious(0.01)		14/18		PROSITE_profiles:PS50132,hmmpanther:PTHR10845:SF27,hmmpanther:PTHR10845,Gene3D:1.10.196.10,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097,Prints_domain:PR01301																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	53	72510218	72510218	C	A	1	0	0	0	0	1	0	0	0	13480	595	21	2		2	RGS6	14	72510218	Missense_Mutation	SNP	C	C3N-00551_TP	4934749	72510218	34533500	454	17133											
ENTPD5	0	.	GRCh38	chr14	73983065	73983065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggcagtaagcgtagtcCtgctgttgcctttaggacca	7	13	11	10	1	1	0	0	0	1	0	2	1	2	1	3	2	3	5	3	2	3	6	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.394G>A	p.Gly132Arg	p.G132R	ENST00000334696	6/16	131	110	21	131	131	0	strelka-varscan-mutect	ENTPD5,missense_variant,p.Gly132Arg,ENST00000334696,NM_001249.2;ENTPD5,missense_variant,p.Gly132Arg,ENST00000557325,;ENTPD5,missense_variant,p.Gly132Arg,ENST00000553284,;ENTPD5,downstream_gene_variant,,ENST00000556242,;	T	ENST00000334696	Transcript	missense_variant	714/5842	394/1287	132/428	G/R	Gga/Aga		1		-1	ENTPD5	HGNC	HGNC:3367	protein_coding	YES	CCDS9825.1	ENSP00000335246	O75356	A0A024R6D3	UPI0000052B69	NM_001249.2	deleterious(0)		6/16		hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF35,Pfam_domain:PF01150																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	53	73983065	73983065	C	T	1	0	0	0	0	1	0	0	0	4987	690	24	3		3	ENTPD5	14	73983065	Missense_Mutation	SNP	C	C3N-00551_TP	1472847	73983065	33060653	455	17134											
ISM2	0	.	GRCh38	chr14	77484553	77484553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcagaggcctaggatctgGggaggctgaagcctgaggaa	10	6	16	9	0	2	3	1	2	1	1	2	6	2	6	3	6	1	1	3	6	3	1	rs11850175		C3N-00551_TP	C3N-00551_NB	G	G																c.397C>T	p.Pro133Ser	p.P133S	ENST00000342219	3/7	53	43	10	60	60	0	strelka-varscan-mutect	ISM2,missense_variant,p.Pro133Ser,ENST00000342219,NM_199296.2;ISM2,missense_variant,p.Pro133Ser,ENST00000493585,NM_182509.3;ISM2,intron_variant,,ENST00000554801,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,3_prime_UTR_variant,,ENST00000480979,;ISM2,3_prime_UTR_variant,,ENST00000471734,;ISM2,non_coding_transcript_exon_variant,,ENST00000472744,;ISM2,upstream_gene_variant,,ENST00000487738,;	A	ENST00000342219	Transcript	missense_variant	454/2971	397/1716	133/571	P/S	Cca/Tca	rs11850175	1		-1	ISM2	HGNC	HGNC:23176	protein_coding	YES	CCDS9864.1	ENSP00000341490	Q6H9L7		UPI000019950C	NM_199296.2	tolerated(0.22)		3/7		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs11850175	.												A	3	1	53	77484553	77484553	G	A	1	0	0	0	0	1	0	0	0	7768	1232	43	3		3	ISM2	14	77484553	Missense_Mutation	SNP	G	C3N-00551_TP	3501488	77484553	29559165	456	17135											
CCDC88C	0	.	GRCh38	chr14	91305825	91305825	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgcaggaaggcgctctgTttctgcagtgtcaagatctg	7	12	12	10	1	4	1	1	0	3	1	5	2	5	2	1	2	2	4	1	2	2	1	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.3297A>G	p.=	p.K1099K	ENST00000389857	19/30	153	143	10	168	168	0	strelka-varscan-mutect	CCDC88C,synonymous_variant,p.=,ENST00000389857,NM_001080414.3;	C	ENST00000389857	Transcript	synonymous_variant	3384/7474	3297/6087	1099/2028	K	aaA/aaG		1		-1	CCDC88C	HGNC	HGNC:19967	protein_coding	YES	CCDS45151.1	ENSP00000374507	Q9P219		UPI00006C1440	NM_001080414.3			19/30		hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF31																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	53	91305825	91305825	T	C	1	0	0	0	0	0	0	0	1	2564	1722	60	5		5	CCDC88C	14	91305825	Silent	SNP	T	C3N-00551_TP	13821272	91305825	15737893	457	17136											
UNC79	0	.	GRCh38	chr14	93538219	93538219	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgtggaagccgtgatcagGtaacacgcagtttcttagta	10	10	12	9	3	2	1	1	1	1	0	2	2	2	2	2	2	2	4	2	2	4	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.821+1G>T		p.X274_splice	ENST00000256339		39	25	14	57	57	0	strelka-varscan-mutect	UNC79,splice_donor_variant,,ENST00000553484,;UNC79,splice_donor_variant,,ENST00000555664,;UNC79,splice_donor_variant,,ENST00000256339,NM_020818.3;UNC79,splice_donor_variant,,ENST00000393151,;UNC79,splice_donor_variant,,ENST00000621021,;	T	ENST00000256339	Transcript	splice_donor_variant	-/8400	821/7377	274/2458				1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3				12/49																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	53	93538219	93538219	G	T	1	0	0	0	0	0	0	1	0	17520	1275	44	2		2	UNC79	14	93538219	Splice_Site	SNP	G	C3N-00551_TP	2232394	93538219	13505499	458	17137											
FAM181A	0	.	GRCh38	chr14	93929098	93929098	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgtgcaggcccgtggtGctgaaacccatccccaccaa	10	6	11	14	1	0	1	0	1	0	0	1	1	1	1	5	3	3	2	5	3	3	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.999G>T	p.=	p.V333V	ENST00000267594	3/3	40	27	13	22	22	0	strelka-varscan-mutect	FAM181A,synonymous_variant,p.=,ENST00000267594,NM_138344.4;FAM181A,synonymous_variant,p.=,ENST00000557000,NM_001207072.1;FAM181A,synonymous_variant,p.=,ENST00000556222,NM_001207074.1,NM_001207073.1;FAM181A,synonymous_variant,p.=,ENST00000557719,NM_001207071.1;FAM181A,downstream_gene_variant,,ENST00000554404,;FAM181A-AS1,upstream_gene_variant,,ENST00000554742,;FAM181A-AS1,upstream_gene_variant,,ENST00000554538,;FAM181A-AS1,upstream_gene_variant,,ENST00000556290,;FAM181A-AS1,upstream_gene_variant,,ENST00000555732,;	T	ENST00000267594	Transcript	synonymous_variant	1306/1816	999/1065	333/354	V	gtG/gtT		1		1	FAM181A	HGNC	HGNC:20491	protein_coding	YES	CCDS9914.1	ENSP00000267594	Q8N9Y4		UPI00004567C0	NM_138344.4			3/3		Pfam_domain:PF15238,hmmpanther:PTHR33766,hmmpanther:PTHR33766:SF1																	LOW		SNV	2			1										PASS		.	.												T	2	4	53	93929098	93929098	G	T	1	0	0	0	0	0	0	0	1	5354	1306	46	2		2	FAM181A	14	93929098	Silent	SNP	G	C3N-00551_TP	390879	93929098	13114620	459	17138											
SERPINA1	0	.	GRCh38	chr14	94381007	94381007	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcagcagcacccagcTggacagcttcttacagtgct	9	11	8	13	0	3	0	2	0	1	0	3	1	3	1	1	1	6	5	1	1	1	3	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.781A>T	p.Ser261Cys	p.S261C	ENST00000448921	5/7	414	342	72	529	528	1	strelka-varscan-mutect	SERPINA1,missense_variant,p.Ser261Cys,ENST00000448921,NM_001002236.2,NM_001127703.1,NM_001127701.1,NM_001127704.1,NM_001127705.1;SERPINA1,missense_variant,p.Ser261Cys,ENST00000437397,NM_001127706.1,NM_001127707.1,NM_001127702.1;SERPINA1,missense_variant,p.Ser261Cys,ENST00000355814,NM_001002235.2,NM_001127700.1;SERPINA1,missense_variant,p.Ser261Cys,ENST00000440909,;SERPINA1,missense_variant,p.Ser261Cys,ENST00000393088,;SERPINA1,missense_variant,p.Ser261Cys,ENST00000404814,;SERPINA1,missense_variant,p.Ser261Cys,ENST00000393087,NM_000295.4;SERPINA1,missense_variant,p.Ser261Cys,ENST00000449399,;SERPINA1,missense_variant,p.Ser261Cys,ENST00000636712,;SERPINA1,missense_variant,p.Ser261Cys,ENST00000402629,;SERPINA1,downstream_gene_variant,,ENST00000557492,;SERPINA1,downstream_gene_variant,,ENST00000556091,;SERPINA1,downstream_gene_variant,,ENST00000557118,;SERPINA1,downstream_gene_variant,,ENST00000553327,;SERPINA1,downstream_gene_variant,,ENST00000556955,;SERPINA1,downstream_gene_variant,,ENST00000554720,;SERPINA1,downstream_gene_variant,,ENST00000555289,;SERPINA1,missense_variant,p.Ser261Cys,ENST00000489769,;	A	ENST00000448921	Transcript	missense_variant	1354/3532	781/1257	261/418	S/C	Agc/Tgc		1		-1	SERPINA1	HGNC	HGNC:8941	protein_coding	YES	CCDS9925.1	ENSP00000416066	P01009	E9KL23	UPI000000CBEC	NM_001002236.2,NM_001127703.1,NM_001127701.1,NM_001127704.1,NM_001127705.1	tolerated(0.4)		5/7		hmmpanther:PTHR11461:SF165,hmmpanther:PTHR11461,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	94381007	94381007	T	A	1	0	0	0	0	1	0	0	0	14362	1580	55	4		4	SERPINA1	14	94381007	Missense_Mutation	SNP	T	C3N-00551_TP	451909	94381007	12662711	460	17139											
PPP2R5C	0	.	GRCh38	chr14	101925210	101925210	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcctcaggacccccacAccaagaaagccttggaagct	12	5	9	15	0	1	1	1	0	0	1	1	3	1	3	5	2	4	2	5	2	3	1	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.1606A>T	p.Thr536Ser	p.T536S	ENST00000422945	16/16	202	181	21	284	284	0	strelka-varscan-mutect	PPP2R5C,missense_variant,p.Thr536Ser,ENST00000422945,NM_001161725.1;PPP2R5C,missense_variant,p.Thr505Ser,ENST00000334743,NM_002719.3;PPP2R5C,missense_variant,p.Thr521Ser,ENST00000328724,NM_001161726.1;PPP2R5C,missense_variant,p.Thr466Ser,ENST00000350249,NM_178586.2;PPP2R5C,missense_variant,p.Thr534Ser,ENST00000557268,;PPP2R5C,downstream_gene_variant,,ENST00000555237,;PPP2R5C,3_prime_UTR_variant,,ENST00000557071,;PPP2R5C,non_coding_transcript_exon_variant,,ENST00000554147,;	T	ENST00000422945	Transcript	missense_variant	1702/4481	1606/1668	536/555	T/S	Acc/Tcc		1		1	PPP2R5C	HGNC	HGNC:9311	protein_coding	YES	CCDS53912.1	ENSP00000412324	Q13362		UPI0001A7AE62	NM_001161725.1	deleterious_low_confidence(0.03)		16/16		hmmpanther:PTHR10257,hmmpanther:PTHR10257:SF22,PIRSF_domain:PIRSF028043																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	53	101925210	101925210	A	T	1	0	0	0	0	1	0	0	0	12516	159	6	4		4	PPP2R5C	14	101925210	Missense_Mutation	SNP	A	C3N-00551_TP	7544203	101925210	5118508	461	17140											
PPP1R13B	0	.	GRCh38	chr14	103797392	103797392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttcccctccacacttcagCtaaatggcagctgccttctc	8	12	5	16	0	2	0	1	0	1	0	5	0	4	0	4	1	3	3	4	1	2	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.136G>A	p.Ala46Thr	p.A46T	ENST00000202556	2/17	144	132	12	165	165	0	strelka-varscan-mutect	PPP1R13B,missense_variant,p.Ala46Thr,ENST00000202556,NM_015316.2;PPP1R13B,missense_variant,p.Ala46Thr,ENST00000553739,;PPP1R13B,missense_variant,p.Ala43Thr,ENST00000555734,;SNORD51,upstream_gene_variant,,ENST00000365405,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000554106,;PPP1R13B,intron_variant,,ENST00000556325,;PPP1R13B,missense_variant,p.Ala45Thr,ENST00000557082,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000554136,;	T	ENST00000202556	Transcript	missense_variant	419/4958	136/3273	46/1090	A/T	Gct/Act		1		-1	PPP1R13B	HGNC	HGNC:14950	protein_coding	YES	CCDS41997.1	ENSP00000202556	Q96KQ4		UPI000049DDC7	NM_015316.2	deleterious(0)		2/17		hmmpanther:PTHR24131,hmmpanther:PTHR24131:SF5,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	103797392	103797392	C	T	1	0	0	0	0	1	0	0	0	12467	797	28	3		3	PPP1R13B	14	103797392	Missense_Mutation	SNP	C	C3N-00551_TP	1872182	103797392	3246326	462	17141											
C14orf180	0	.	GRCh38	chr14	104588703	104588703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaacggcactggaggacCtgcgggcccggctcctcggc	5	5	16	15	4	0	0	0	0	0	0	2	2	1	2	3	7	2	3	3	7	1	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.359C>A	p.Pro120His	p.P120H	ENST00000331952	5/5	144	114	30	194	194	0	strelka-varscan-mutect	C14orf180,missense_variant,p.Leu135Met,ENST00000557649,NM_001008404.2;C14orf180,missense_variant,p.Leu135Met,ENST00000410013,NM_001286400.1;C14orf180,missense_variant,p.Pro120His,ENST00000331952,NM_001286399.1;TMEM179,intron_variant,,ENST00000415614,;TMEM179,downstream_gene_variant,,ENST00000616017,;TMEM179,downstream_gene_variant,,ENST00000556573,NM_001286389.1;TMEM179,downstream_gene_variant,,ENST00000556320,;RP11-614O9.1,downstream_gene_variant,,ENST00000556073,;	A	ENST00000331952	Transcript	missense_variant	615/1455	359/534	120/177	P/H	cCt/cAt		1		1	C14orf180	HGNC	HGNC:33795	protein_coding	YES	CCDS66722.1	ENSP00000333041		J3KNP8	UPI00021CF38C	NM_001286399.1	tolerated_low_confidence(0.14)		5/5		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		rs1158255628	.												A	3	1	53	104588703	104588703	C	A	1	0	0	0	0	1	0	0	0	1835	680	24	2		2	C14orf180	14	104588703	Missense_Mutation	SNP	C	C3N-00551_TP	791311	104588703	2455015	463	17142											
CRIP2	0	.	GRCh38	chr14	105479186	105479186	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgcgctgcgagcgctgCgggaagacactgacccccgg	6	5	15	15	5	0	2	0	1	0	1	0	4	0	3	3	2	5	2	3	2	1	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.690C>A	p.Cys230Ter	p.C230*	ENST00000483017	6/8	183	166	17	211	211	0	strelka-varscan-mutect	CRIP2,stop_gained,p.Cys156Ter,ENST00000329146,NM_001312.3;CRIP2,stop_gained,p.Cys230Ter,ENST00000483017,NM_001270837.1;CRIP2,stop_gained,p.Cys140Ter,ENST00000538259,;CRIP2,stop_gained,p.Cys52Ter,ENST00000550577,NM_001270841.1;CRIP2,non_coding_transcript_exon_variant,,ENST00000548989,;CRIP2,non_coding_transcript_exon_variant,,ENST00000548309,;CRIP2,downstream_gene_variant,,ENST00000548923,;CRIP2,non_coding_transcript_exon_variant,,ENST00000552643,;CRIP2,non_coding_transcript_exon_variant,,ENST00000547643,;CRIP2,non_coding_transcript_exon_variant,,ENST00000551836,;CRIP2,non_coding_transcript_exon_variant,,ENST00000551738,;	A	ENST00000483017	Transcript	stop_gained	976/1176	690/849	230/282	C/*	tgC/tgA		1		1	CRIP2	HGNC	HGNC:2361	protein_coding	YES	CCDS59246.1	ENSP00000426119	P52943		UPI0001914E41	NM_001270837.1			6/8		PROSITE_profiles:PS50023,hmmpanther:PTHR24208,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716																	HIGH	1	SNV	2			1										PASS		rs992542614	.												A	4	1	53	105479186	105479186	C	A	1	0	0	0	0	0	1	0	0	3676	776	27	1		1	CRIP2	14	105479186	Nonsense_Mutation	SNP	C	C3N-00551_TP	890483	105479186	1564532	464	17143											
NPAP1	0	.	GRCh38	chr15	24678123	24678123	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtttgcctgcacagtcAgtcagggcaccagctacagc	10	7	10	14	0	2	0	2	0	0	0	2	0	2	0	3	1	5	4	3	1	1	2	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.2256A>T	p.=	p.S752S	ENST00000329468	1/1	207	166	41	304	304	0	strelka-varscan-mutect	NPAP1,synonymous_variant,p.=,ENST00000329468,NM_018958.2;	T	ENST00000329468	Transcript	synonymous_variant	2256/7526	2256/3471	752/1156	S	tcA/tcT		1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2			1/1		hmmpanther:PTHR23193:SF15,hmmpanther:PTHR23193																	LOW	1	SNV				1										PASS		.	.												T	2	4	53	24678123	24678123	A	T	1	0	0	0	0	0	0	0	1	10609	175	7	4		4	NPAP1	15	24678123	Silent	SNP	A	C3N-00551_TP		24678123	77313066	465	17144											
GABRA5	0	.	GRCh38	chr15	26943323	26943323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttcatagccgtgtgctatgCcttcgtcttctcggcgctga	4	14	11	12	4	3	1	1	1	2	0	5	1	3	1	2	1	3	3	2	1	2	5	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.986C>A	p.Ala329Asp	p.A329D	ENST00000335625	10/11	295	240	55	377	377	0	strelka-varscan-mutect	GABRA5,missense_variant,p.Ala329Asp,ENST00000335625,NM_000810.3;GABRA5,missense_variant,p.Ala329Asp,ENST00000400081,NM_001165037.1;GABRA5,missense_variant,p.Ala329Asp,ENST00000355395,;GABRB3,upstream_gene_variant,,ENST00000541819,;	A	ENST00000335625	Transcript	missense_variant	1874/3251	986/1389	329/462	A/D	gCc/gAc		1		1	GABRA5	HGNC	HGNC:4079	protein_coding	YES	CCDS45194.1	ENSP00000335592	P31644		UPI000002D731	NM_000810.3	deleterious(0)		10/11		Gene3D:1.20.58.390,Pfam_domain:PF02932,Prints_domain:PR00253,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1376608583	.												A	3	1	53	26943323	26943323	C	A	1	0	0	0	0	1	0	0	0	6035	739	26	2		2	GABRA5	15	26943323	Missense_Mutation	SNP	C	C3N-00551_TP	2265200	26943323	75047866	466	17145											
GOLGA8T	0	.	GRCh38	chr15	30145461	30145461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctctccttgacaagcCtactgcacagccgatcgtgc	8	9	9	15	2	1	1	0	1	1	0	4	3	2	2	4	1	5	1	4	1	2	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1790C>G	p.Pro597Arg	p.P597R	ENST00000569052	19/19	246	216	30	346	346	0	varscan-mutect	GOLGA8T,missense_variant,p.Pro597Arg,ENST00000569052,;RN7SL469P,downstream_gene_variant,,ENST00000621501,;	G	ENST00000569052	Transcript	missense_variant	1790/1896	1790/1896	597/631	P/R	cCt/cGt		1		1	GOLGA8T	HGNC	HGNC:44410	protein_coding	YES		ENSP00000455826		H3BQL2	UPI000246730F		deleterious(0.03)		19/19		hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48,Pfam_domain:PF15070																	MODERATE	1	SNV	5			1										PASS		rs1488266874	.												G	3	3	53	30145461	30145461	C	G	1	0	0	0	0	1	0	0	0	6458	681	24	4		4	GOLGA8T	15	30145461	Missense_Mutation	SNP	C	C3N-00551_TP	3202138	30145461	71845728	467	17146											
IVD	0	.	GRCh38	chr15	40414888	40414888	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccagcacttatcctggcaGctgccaacatcctgggccat	9	8	9	15	0	0	0	0	0	0	0	2	1	2	0	5	2	4	3	5	2	2	1			C3N-00551_TP	C3N-00551_NB	G	G																c.794-1G>C		p.X265_splice	ENST00000487418		431	306	125	466	466	0	strelka-varscan-mutect	IVD,splice_acceptor_variant,,ENST00000479013,NM_001159508.1;IVD,splice_acceptor_variant,,ENST00000487418,NM_002225.3;IVD,splice_acceptor_variant,,ENST00000491554,;IVD,splice_acceptor_variant,,ENST00000473112,;IVD,downstream_gene_variant,,ENST00000558610,;IVD,downstream_gene_variant,,ENST00000610693,;IVD,upstream_gene_variant,,ENST00000466756,;IVD,upstream_gene_variant,,ENST00000559575,;IVD,splice_acceptor_variant,,ENST00000497252,;IVD,non_coding_transcript_exon_variant,,ENST00000560660,;IVD,intron_variant,,ENST00000481262,;IVD,upstream_gene_variant,,ENST00000497816,;IVD,downstream_gene_variant,,ENST00000484250,;	C	ENST00000487418	Transcript	splice_acceptor_variant	-/1809	794/1281	265/426			CS001433	1		1	IVD	HGNC	HGNC:6186	protein_coding	YES	CCDS10057.2	ENSP00000418397		A0A0A0MT83	UPI0000D4AF3D	NM_002225.3				7/11																		HIGH	1	SNV	1		1	1										PASS		.	.												C	5	2	53	40414888	40414888	G	C	1	0	0	0	0	0	0	1	0	7834	985	34	4		4	IVD	15	40414888	Splice_Site	SNP	G	C3N-00551_TP	10269427	40414888	61576301	468	17147											
TP53BP1	0	.	GRCh38	chr15	43456640	43456640	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctcctctggatggtgttcTttaatttccatagcttcctc	5	17	6	13	0	2	0	0	0	2	0	6	1	5	1	4	2	1	2	4	2	2	6	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1968A>T	p.Lys656Asn	p.K656N	ENST00000382044	12/28	244	176	68	271	270	1	strelka-varscan-mutect	TP53BP1,missense_variant,p.Lys656Asn,ENST00000382044,NM_001141980.1;TP53BP1,missense_variant,p.Lys651Asn,ENST00000263801,NM_005657.2;TP53BP1,missense_variant,p.Lys656Asn,ENST00000450115,NM_001141979.1;TP53BP1,missense_variant,p.Lys656Asn,ENST00000382039,;TP53BP1,missense_variant,p.Lys656Asn,ENST00000413546,;TP53BP1,upstream_gene_variant,,ENST00000605155,;TP53BP1,upstream_gene_variant,,ENST00000414758,;TP53BP1,non_coding_transcript_exon_variant,,ENST00000572085,;TP53BP1,upstream_gene_variant,,ENST00000411772,;TP53BP1,upstream_gene_variant,,ENST00000480860,;	A	ENST00000382044	Transcript	missense_variant	2096/10384	1968/5934	656/1977	K/N	aaA/aaT		1		-1	TP53BP1	HGNC	HGNC:11999	protein_coding	YES	CCDS45250.1	ENSP00000371475	Q12888		UPI0000D720ED	NM_001141980.1	deleterious(0.02)		12/28		hmmpanther:PTHR15321,hmmpanther:PTHR15321:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	43456640	43456640	T	A	1	0	0	0	0	1	0	0	0	16861	1606	56	4		4	TP53BP1	15	43456640	Missense_Mutation	SNP	T	C3N-00551_TP	3041752	43456640	58534549	469	17148											
CA12	0	.	GRCh38	chr15	63346707	63346707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagctattctccccatcagGacctggacacagagatccat	11	8	7	15	0	2	1	1	0	1	1	4	4	3	3	5	2	1	1	5	2	1	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.109C>A	p.Pro37Thr	p.P37T	ENST00000178638	3/11	364	249	115	431	430	1	strelka-varscan-mutect	CA12,missense_variant,p.Pro37Thr,ENST00000178638,NM_001218.4;CA12,missense_variant,p.Pro37Thr,ENST00000344366,NM_206925.2;CA12,intron_variant,,ENST00000422263,NM_001293642.1;CA12,upstream_gene_variant,,ENST00000558287,;	T	ENST00000178638	Transcript	missense_variant,splice_region_variant	550/6413	109/1065	37/354	P/T	Cct/Act		1		-1	CA12	HGNC	HGNC:1371	protein_coding	YES	CCDS10185.1	ENSP00000178638	O43570		UPI0000035CDD	NM_001218.4	deleterious(0.03)		3/11		Gene3D:3.10.200.10,Pfam_domain:PF00194,PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF19,SMART_domains:SM01057,Superfamily_domains:SSF51069																	MODERATE	1	SNV	1			1										PASS		rs1180179299	.												T	3	4	53	63346707	63346707	G	T	1	0	0	0	0	1	0	0	0	2199	1188	41	2		2	CA12	15	63346707	Missense_Mutation	SNP	G	C3N-00551_TP	19890067	63346707	38644482	470	17149											
CLN6	0	.	GRCh38	chr15	68218613	68218613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggtcgaggtggaagggagCcgtgcgggcagcctcatcag	8	5	19	9	3	2	0	2	0	0	0	3	4	2	2	2	5	3	1	2	5	1	0			C3N-00551_TP	C3N-00551_NB	C	C																c.121G>T	p.Ala41Ser	p.A41S	ENST00000249806	2/7	504	371	133	435	435	0	strelka-varscan-mutect	CLN6,missense_variant,p.Ala41Ser,ENST00000249806,NM_017882.2;CLN6,missense_variant,p.Ala73Ser,ENST00000538696,;CLN6,missense_variant,p.Ala41Ser,ENST00000566347,;CLN6,missense_variant,p.Ala41Ser,ENST00000564752,;CLN6,missense_variant,p.Ala41Ser,ENST00000637667,;CLN6,missense_variant,p.Ala41Ser,ENST00000637494,;RP11-315D16.2,intron_variant,,ENST00000562767,;CLN6,intron_variant,,ENST00000565471,;CLN6,intron_variant,,ENST00000636314,;CLN6,intron_variant,,ENST00000638144,;CLN6,intron_variant,,ENST00000563917,;RP11-315D16.2,missense_variant,p.Ala41Ser,ENST00000637054,;RP11-315D16.2,missense_variant,p.Ala41Ser,ENST00000637888,;CLN6,missense_variant,p.Ala41Ser,ENST00000638076,;CLN6,missense_variant,p.Ala12Ser,ENST00000637329,;CLN6,missense_variant,p.Ala41Ser,ENST00000636212,;CLN6,missense_variant,p.Ala41Ser,ENST00000567060,;CLN6,missense_variant,p.Ala17Ser,ENST00000637823,;CLN6,3_prime_UTR_variant,,ENST00000635747,;CLN6,3_prime_UTR_variant,,ENST00000636876,;CLN6,3_prime_UTR_variant,,ENST00000637223,;CLN6,non_coding_transcript_exon_variant,,ENST00000564846,;CLN6,non_coding_transcript_exon_variant,,ENST00000636020,;CLN6,non_coding_transcript_exon_variant,,ENST00000569336,;CLN6,intron_variant,,ENST00000637450,;CLN6,upstream_gene_variant,,ENST00000635754,;	A	ENST00000249806	Transcript	missense_variant	280/2243	121/936	41/311	A/S	Gct/Tct	COSM4793328	1		-1	CLN6	HGNC	HGNC:2077	protein_coding	YES	CCDS10227.1	ENSP00000249806	Q9NWW5	A0A024R601	UPI000006D91F	NM_017882.2	tolerated_low_confidence(0.47)		2/7		hmmpanther:PTHR16244,Pfam_domain:PF15156											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	53	68218613	68218613	C	A	1	0	0	0	0	1	0	0	0	3315	739	26	2		2	CLN6	15	68218613	Missense_Mutation	SNP	C	C3N-00551_TP	4871906	68218613	33772576	471	17150											
HCN4	0	.	GRCh38	chr15	73322821	73322821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtcctgaggcagggctGgctgagacgcggagatgagc	7	5	17	12	3	0	4	0	3	0	2	1	6	1	4	3	4	1	3	3	4	0	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.3272C>A	p.Pro1091Gln	p.P1091Q	ENST00000261917	8/8	27	20	7	31	31	0	strelka-varscan-mutect	HCN4,missense_variant,p.Pro1091Gln,ENST00000261917,NM_005477.2;	T	ENST00000261917	Transcript	missense_variant	4266/7228	3272/3612	1091/1203	P/Q	cCa/cAa		1		-1	HCN4	HGNC	HGNC:16882	protein_coding	YES	CCDS10248.1	ENSP00000261917	Q9Y3Q4		UPI000003FFB5	NM_005477.2	deleterious_low_confidence(0)		8/8																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	73322821	73322821	G	T	1	0	0	0	0	1	0	0	0	6886	1348	47	2		2	HCN4	15	73322821	Missense_Mutation	SNP	G	C3N-00551_TP	5104208	73322821	28668368	472	17151											
CSPG4	0	.	GRCh38	chr15	75689092	75689092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgtatggccggccggatgGccaccaccttcagcgtggcc	5	8	13	15	3	2	0	1	0	1	0	2	1	2	1	6	5	1	1	6	5	1	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1973C>A	p.Ala658Asp	p.A658D	ENST00000308508	3/10	70	47	23	59	59	0	strelka-mutect	CSPG4,missense_variant,p.Ala658Asp,ENST00000308508,NM_001897.4;	T	ENST00000308508	Transcript	missense_variant	2066/8290	1973/6969	658/2322	A/D	gCc/gAc		1		-1	CSPG4	HGNC	HGNC:2466	protein_coding	YES	CCDS10284.1	ENSP00000312506	Q6UVK1		UPI00001AEEB6	NM_001897.4	deleterious(0)		3/10		hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF16																	MODERATE	1	SNV	1			1										PASS		rs1191683465	.												T	3	4	53	75689092	75689092	G	T	1	0	0	0	0	1	0	0	0	3761	1203	42	2		2	CSPG4	15	75689092	Missense_Mutation	SNP	G	C3N-00551_TP	2366271	75689092	26302097	473	17152											
CSPG4	0	.	GRCh38	chr15	75693154	75693154	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcttcgggctgggacgtGgagaactgcagctgcaggtc	7	7	18	9	2	0	1	0	0	0	1	2	3	0	2	0	5	4	5	0	5	1	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.168C>A	p.=	p.S56S	ENST00000308508	2/10	102	70	32	119	119	0	strelka-varscan-mutect	CSPG4,synonymous_variant,p.=,ENST00000308508,NM_001897.4;	T	ENST00000308508	Transcript	synonymous_variant	261/8290	168/6969	56/2322	S	tcC/tcA		1		-1	CSPG4	HGNC	HGNC:2466	protein_coding	YES	CCDS10284.1	ENSP00000312506	Q6UVK1		UPI00001AEEB6	NM_001897.4			2/10		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF16,SMART_domains:SM00282,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	75693154	75693154	G	T	1	0	0	0	0	0	0	0	1	3761	1335	47	2		2	CSPG4	15	75693154	Silent	SNP	G	C3N-00551_TP	4062	75693154	26298035	474	17153											
SV2B	0	.	GRCh38	chr15	91252431	91252431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcttgtctcgggagaagcGaggagaacacctcagttggc	10	9	13	9	2	3	2	1	0	2	2	4	5	3	2	1	3	2	1	1	3	2	3	rs779548438		C3N-00551_TP	C3N-00551_NB	G	G																c.695G>A	p.Arg232Gln	p.R232Q	ENST00000394232	4/13	125	118	7	108	108	0	strelka-varscan-mutect	SV2B,missense_variant,p.Arg232Gln,ENST00000394232,NM_001323038.1,NM_001323031.1,NM_001323040.1,NM_001323039.1,NM_001323032.1,NM_001323036.1,NM_001323037.1,NM_014848.4;SV2B,missense_variant,p.Arg232Gln,ENST00000330276,;SV2B,missense_variant,p.Arg81Gln,ENST00000545111,NM_001167580.1;SV2B,downstream_gene_variant,,ENST00000557291,;SV2B,missense_variant,p.Arg232Gln,ENST00000557410,;	A	ENST00000394232	Transcript	missense_variant	1165/11279	695/2052	232/683	R/Q	cGa/cAa	rs779548438	1		1	SV2B	HGNC	HGNC:16874	protein_coding	YES	CCDS10370.1	ENSP00000377779	Q7L1I2		UPI000006FCF1	NM_001323038.1,NM_001323031.1,NM_001323040.1,NM_001323039.1,NM_001323032.1,NM_001323036.1,NM_001323037.1,NM_014848.4	deleterious(0)		4/13		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_patterns:PS00217,PROSITE_profiles:PS50850,hmmpanther:PTHR23511,hmmpanther:PTHR23511:SF2,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR01299																	MODERATE	1	SNV	5			1										PASS		rs779548438	.												A	3	1	53	91252431	91252431	G	A	1	0	0	0	0	1	0	0	0	15802	1058	37	1		1	SV2B	15	91252431	Missense_Mutation	SNP	G	C3N-00551_TP	15559277	91252431	10738758	475	17154											
ADAMTS17	0	.	GRCh38	chr15	100096464	100096464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacccgatgatgccgtCacagccgattttctaaagaa	12	9	9	11	3	2	3	1	1	1	2	2	5	2	3	3	0	3	1	3	0	3	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2029G>T	p.Asp677Tyr	p.D677Y	ENST00000268070	15/22	281	197	84	388	388	0	strelka-varscan-mutect	ADAMTS17,missense_variant,p.Asp677Tyr,ENST00000268070,NM_139057.2;ADAMTS17,missense_variant,p.Asp45Tyr,ENST00000568565,;ADAMTS17,non_coding_transcript_exon_variant,,ENST00000378898,;	A	ENST00000268070	Transcript	missense_variant	2135/6207	2029/3288	677/1095	D/Y	Gac/Tac		1		-1	ADAMTS17	HGNC	HGNC:17109	protein_coding	YES	CCDS10383.1	ENSP00000268070	Q8TE56		UPI00001AE929	NM_139057.2	deleterious(0)		15/22		hmmpanther:PTHR13723:SF151,hmmpanther:PTHR13723,Prints_domain:PR01857																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	100096464	100096464	C	A	1	0	0	0	0	1	0	0	0	306	826	29	2		2	ADAMTS17	15	100096464	Missense_Mutation	SNP	C	C3N-00551_TP	8844033	100096464	1894725	476	17155											
PRR35	0	.	GRCh38	chr16	564057	564057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcccagccgtgcagcccCctcagcgccccaccccggcc	4	4	8	25	3	1	0	1	0	0	0	2	0	2	0	10	1	4	1	10	1	0	1	rs767822670		C3N-00551_TP	C3N-00551_NB	C	C																c.763C>A	p.Pro255Thr	p.P255T	ENST00000409413	2/3	80	61	19	84	84	0	strelka-varscan-mutect	PRR35,missense_variant,p.Pro255Thr,ENST00000409413,NM_145270.2;NHLRC4,upstream_gene_variant,,ENST00000424439,NM_176677.2,NM_001301159.1;NHLRC4,upstream_gene_variant,,ENST00000540585,;PIGQ,upstream_gene_variant,,ENST00000409527,;PIGQ,upstream_gene_variant,,ENST00000293874,;LA16c-407A10.3,upstream_gene_variant,,ENST00000409439,;	A	ENST00000409413	Transcript	missense_variant	1042/2216	763/1716	255/571	P/T	Cct/Act	rs767822670	1		1	PRR35	HGNC	HGNC:14139	protein_coding	YES	CCDS45365.1	ENSP00000386499	P0CG20		UPI000006F4B0	NM_145270.2	tolerated(0.08)		2/3		hmmpanther:PTHR14678:SF2,hmmpanther:PTHR14678																	MODERATE	1	SNV	1			1										PASS		rs767822670	.												A	3	1	53	564057	564057	C	A	1	0	0	0	0	1	0	0	0	12740	623	22	2		2	PRR35	16	564057	Missense_Mutation	SNP	C	C3N-00551_TP		564057	89774288	477	17156											
SSTR5	0	.	GRCh38	chr16	1079937	1079937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcaccgcgccgcagccaacGggcttatgcagaccagcaag	10	3	12	16	5	0	1	0	0	0	1	0	1	0	1	4	1	4	5	4	1	3	1	rs34947461		C3N-00551_TP	C3N-00551_NB	G	G																c.1069G>T	p.Gly357Trp	p.G357W	ENST00000293897	1/1	71	59	12	68	68	0	strelka-varscan-mutect	SSTR5,missense_variant,p.Gly357Trp,ENST00000293897,NM_001172560.1,NM_001053.3;SSTR5-AS1,upstream_gene_variant,,ENST00000569832,;SSTR5-AS1,upstream_gene_variant,,ENST00000566499,;SSTR5-AS1,upstream_gene_variant,,ENST00000624643,;	T	ENST00000293897	Transcript	missense_variant	1157/1362	1069/1095	357/364	G/W	Ggg/Tgg	rs34947461	1		1	SSTR5	HGNC	HGNC:11334	protein_coding	YES	CCDS10429.1	ENSP00000293897	P35346		UPI00000015DC	NM_001172560.1,NM_001053.3	deleterious(0)		1/1		hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF20												21810856					MODERATE		SNV				1										PASS		rs34947461	.												T	3	4	53	1079937	1079937	G	T	1	0	0	0	0	1	0	0	0	15578	1116	39	1		1	SSTR5	16	1079937	Missense_Mutation	SNP	G	C3N-00551_TP	515880	1079937	89258408	478	17157											
GNPTG	0	.	GRCh38	chr16	1362265	1362265	+	Frame_Shift_Del	DEL	C	C	-																															gtgtccgagccgagcacctgCgtctacgcgctgacgttcga																								rs564859061		C3N-00551_TP	C3N-00551_NB	C	C																c.471delC	p.Cys157TrpfsTer5	p.C157Wfs*5	ENST00000204679	7/11	334	302	32	361	361	0	sindel-varindel-pindel	GNPTG,frameshift_variant,p.Cys157TrpfsTer5,ENST00000204679,NM_032520.4;GNPTG,frameshift_variant,p.Cys180TrpfsTer5,ENST00000529110,;UNKL,downstream_gene_variant,,ENST00000389221,NM_001193388.3;UNKL,downstream_gene_variant,,ENST00000248104,NM_001276414.1;UNKL,downstream_gene_variant,,ENST00000508903,;UNKL,downstream_gene_variant,,ENST00000397464,NM_001193389.1;LA16c-316G12.2,upstream_gene_variant,,ENST00000569831,;UNKL,downstream_gene_variant,,ENST00000562537,;GNPTG,non_coding_transcript_exon_variant,,ENST00000527076,;GNPTG,non_coding_transcript_exon_variant,,ENST00000527168,;GNPTG,non_coding_transcript_exon_variant,,ENST00000529957,;UNKL,downstream_gene_variant,,ENST00000403703,;UNKL,downstream_gene_variant,,ENST00000511095,;GNPTG,downstream_gene_variant,,ENST00000526820,;GNPTG,downstream_gene_variant,,ENST00000527876,;GNPTG,downstream_gene_variant,,ENST00000534197,;	-	ENST00000204679	Transcript	frameshift_variant	514/1983	471/918	157/305	C/X	tgC/tg	rs564859061,CD110269	1		1	GNPTG	HGNC	HGNC:23026	protein_coding	YES	CCDS10436.1	ENSP00000204679	Q9UJJ9		UPI0000073F3C	NM_032520.4			7/11		hmmpanther:PTHR12630,hmmpanther:PTHR12630:SF6,Gene3D:2.70.130.10,Pfam_domain:PF13015,Superfamily_domains:SSF50911																	HIGH	1	deletion	1		0,1	1										PASS		.	.												-	7	5	53	1362265	1362265	C	-	1	0	1	0	1	0	0	0	0	6425	776	27	0		0	GNPTG	16	1362265	Frame_Shift_Del	DEL	C	C3N-00551_TP	282328	1362265	88976080	479	17158											
MAPK8IP3	0	.	GRCh38	chr16	1729534	1729534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggtccaagatgcagcaGgtcggaggaaacagccagac	14	3	15	9	1	0	3	0	0	0	3	2	6	1	5	2	4	4	2	2	4	2	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.558G>T	p.Gln186His	p.Q186H	ENST00000250894	4/32	220	197	23	210	210	0	strelka-varscan-mutect	MAPK8IP3,missense_variant,p.Gln186His,ENST00000250894,NM_001318852.1,NM_015133.3;MAPK8IP3,missense_variant,p.Gln186His,ENST00000610761,;MAPK8IP3,missense_variant,p.Gln186His,ENST00000356010,NM_001040439.1;MAPK8IP3,non_coding_transcript_exon_variant,,ENST00000564098,;MAPK8IP3,non_coding_transcript_exon_variant,,ENST00000561765,;	T	ENST00000250894	Transcript	missense_variant	715/5661	558/4011	186/1336	Q/H	caG/caT		1		1	MAPK8IP3	HGNC	HGNC:6884	protein_coding	YES	CCDS10442.2	ENSP00000250894	Q9UPT6		UPI000034ECA7	NM_001318852.1,NM_015133.3	tolerated(0.15)		4/32		hmmpanther:PTHR13886,hmmpanther:PTHR13886:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	1729534	1729534	G	T	1	0	0	0	0	1	0	0	0	9210	991	35	2		2	MAPK8IP3	16	1729534	Missense_Mutation	SNP	G	C3N-00551_TP	367269	1729534	88608811	480	17159											
SPSB3	0	.	GRCh38	chr16	1778528	1778530	+	In_Frame_Del	DEL	AGA	AGA	-																															gctctgcccagcacagtcacAgaaggactcgccggtcacgg																								novel		C3N-00551_TP	C3N-00551_NB	AGA	AGA																c.209_211delTCT	p.Phe70del	p.F70del	ENST00000566339	3/7	105	96	9	110	110	0	sindel-varindel-pindel	SPSB3,inframe_deletion,p.Phe70del,ENST00000566339,NM_080861.3;SPSB3,inframe_deletion,p.Phe70del,ENST00000301717,;SPSB3,inframe_deletion,p.Phe70del,ENST00000569769,;NUBP2,upstream_gene_variant,,ENST00000262302,NM_012225.3;EME2,downstream_gene_variant,,ENST00000568449,NM_001257370.1;NUBP2,upstream_gene_variant,,ENST00000565987,NM_001284501.1;NUBP2,upstream_gene_variant,,ENST00000568287,;NUBP2,upstream_gene_variant,,ENST00000565134,;NUBP2,upstream_gene_variant,,ENST00000563136,;EME2,3_prime_UTR_variant,,ENST00000561903,;EME2,non_coding_transcript_exon_variant,,ENST00000570069,;SPSB3,non_coding_transcript_exon_variant,,ENST00000564709,;SPSB3,non_coding_transcript_exon_variant,,ENST00000569380,;SPSB3,non_coding_transcript_exon_variant,,ENST00000563741,;SPSB3,non_coding_transcript_exon_variant,,ENST00000567868,;SPSB3,non_coding_transcript_exon_variant,,ENST00000563668,;SPSB3,non_coding_transcript_exon_variant,,ENST00000565550,;SPSB3,non_coding_transcript_exon_variant,,ENST00000563705,;SPSB3,non_coding_transcript_exon_variant,,ENST00000564070,;NUBP2,upstream_gene_variant,,ENST00000567700,;NUBP2,upstream_gene_variant,,ENST00000568834,NM_001284502.1;NUBP2,upstream_gene_variant,,ENST00000565603,;NUBP2,upstream_gene_variant,,ENST00000564227,;NUBP2,upstream_gene_variant,,ENST00000566090,;NUBP2,upstream_gene_variant,,ENST00000569898,;EME2,downstream_gene_variant,,ENST00000564182,;SPSB3,downstream_gene_variant,,ENST00000568416,;NUBP2,upstream_gene_variant,,ENST00000566447,;EME2,downstream_gene_variant,,ENST00000561564,;EME2,downstream_gene_variant,,ENST00000565326,;	-	ENST00000566339	Transcript	inframe_deletion	540-542/1784	209-211/1068	70-71/355	FC/C	tTCTgt/tgt		1		-1	SPSB3	HGNC	HGNC:30629	protein_coding	YES	CCDS32365.1	ENSP00000457206	Q6PJ21		UPI000006FA20	NM_080861.3			3/7		hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF5																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	53	1778528	1778528	AGA	-	1	0	1	0	1	0	0	0	0	15470	188	7	0		0	SPSB3	16	1778528	In_Frame_Del	DEL	AGA	C3N-00551_TP	48994	1778528	88559817	481	17160											
CASKIN1	0	.	GRCh38	chr16	2180445	2180445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggacccccagcaggcCatcctcaggctcggcgtcag	6	5	12	18	3	2	0	2	0	0	0	4	1	3	1	5	4	2	2	5	4	0	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2923G>A	p.Gly975Ser	p.G975S	ENST00000343516	18/20	182	171	11	214	214	0	strelka-varscan-mutect	CASKIN1,missense_variant,p.Gly975Ser,ENST00000343516,NM_020764.3;TRAF7,downstream_gene_variant,,ENST00000326181,NM_032271.2;CASKIN1,downstream_gene_variant,,ENST00000564289,;	T	ENST00000343516	Transcript	missense_variant	3016/5759	2923/4296	975/1431	G/S	Ggc/Agc		1		-1	CASKIN1	HGNC	HGNC:20879	protein_coding	YES	CCDS42103.1	ENSP00000345436	Q8WXD9		UPI0000073A3B	NM_020764.3	tolerated(0.25)		18/20																			MODERATE		SNV	5			1										PASS		.	.												T	3	4	53	2180445	2180445	C	T	1	0	0	0	0	1	0	0	0	2366	594	21	3		3	CASKIN1	16	2180445	Missense_Mutation	SNP	C	C3N-00551_TP	401917	2180445	88157900	482	17161											
PRSS22	0	.	GRCh38	chr16	2853254	2853254	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgttgcgctcggcacagcCctcgccccagctgatgatgc	5	8	11	17	3	0	2	0	2	0	0	2	2	0	2	4	1	4	4	4	1	0	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.793G>T	p.Gly265Cys	p.G265C	ENST00000161006	6/6	301	246	55	343	343	0	strelka-varscan-mutect	PRSS22,missense_variant,p.Gly265Cys,ENST00000161006,NM_022119.3;PRSS22,missense_variant,p.Gly155Cys,ENST00000571228,;LA16c-325D7.1,upstream_gene_variant,,ENST00000577140,;PRSS22,downstream_gene_variant,,ENST00000574768,;PRSS22,downstream_gene_variant,,ENST00000577177,;PRSS22,non_coding_transcript_exon_variant,,ENST00000575164,;PRSS22,downstream_gene_variant,,ENST00000576381,;PRSS22,downstream_gene_variant,,ENST00000570950,;PRSS22,downstream_gene_variant,,ENST00000572061,;	A	ENST00000161006	Transcript	missense_variant	859/1386	793/954	265/317	G/C	Ggc/Tgc		1		-1	PRSS22	HGNC	HGNC:14368	protein_coding	YES	CCDS10481.1	ENSP00000161006	Q9GZN4		UPI0000126AFA	NM_022119.3	deleterious(0)		6/6		PROSITE_profiles:PS50240,hmmpanther:PTHR24253:SF6,hmmpanther:PTHR24253,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	2853254	2853254	C	A	1	0	0	0	0	1	0	0	0	12766	623	22	2		2	PRSS22	16	2853254	Missense_Mutation	SNP	C	C3N-00551_TP	672809	2853254	87485091	483	17162											
UBALD1	0	.	GRCh38	chr16	4610212	4610212	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggccacgaggctttccCagcccacccctttccatcag	6	8	9	18	1	1	0	1	0	0	0	3	1	3	0	6	3	1	1	6	3	0	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.60G>A	p.=	p.L20L	ENST00000590891	1/1	199	187	12	182	182	0	strelka-varscan-mutect	UBALD1,synonymous_variant,p.=,ENST00000590891,;UBALD1,intron_variant,,ENST00000590965,;UBALD1,intron_variant,,ENST00000283474,NM_145253.2;UBALD1,intron_variant,,ENST00000591401,;UBALD1,intron_variant,,ENST00000591897,;UBALD1,intron_variant,,ENST00000587615,;UBALD1,intron_variant,,ENST00000587649,;UBALD1,intron_variant,,ENST00000591113,;UBALD1,intron_variant,,ENST00000588691,;	T	ENST00000590891	Transcript	synonymous_variant	1312/2641	60/639	20/212	L	ctG/ctA		1		-1	UBALD1	HGNC	HGNC:29576	protein_coding			ENSP00000465706	Q8TB05		UPI000022EEB5				1/1		Low_complexity_(Seg):seg																	LOW		SNV				1										PASS		.	.												T	2	4	53	4610212	4610212	C	T	1	0	0	0	0	0	0	0	1	17355	581	21	3		3	UBALD1	16	4610212	Silent	SNP	C	C3N-00551_TP	1756958	4610212	85728133	484	17163											
MKL2	0	.	GRCh38	chr16	14245556	14245556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacaaaaatagtaacagtGggaattcagctttgaacaat	18	10	8	5	0	1	2	1	2	0	0	1	3	1	3	0	1	3	2	0	1	7	4			C3N-00551_TP	C3N-00551_NB	G	G																c.1108G>T	p.Gly370Trp	p.G370W	ENST00000571589	11/17	183	142	41	229	229	0	strelka-varscan-mutect	MKL2,missense_variant,p.Gly370Trp,ENST00000571589,NM_001308142.1;MKL2,missense_variant,p.Gly370Trp,ENST00000318282,;MKL2,missense_variant,p.Gly370Trp,ENST00000574045,NM_014048.3;MKL2,downstream_gene_variant,,ENST00000572567,;MKL2,downstream_gene_variant,,ENST00000573051,;MKL2,upstream_gene_variant,,ENST00000572588,;	T	ENST00000571589	Transcript	missense_variant	1280/8799	1108/3300	370/1099	G/W	Ggg/Tgg	COSM5148783,COSM5148784	1		1	MKL2	HGNC	HGNC:29819	protein_coding	YES	CCDS76823.1	ENSP00000459626	Q9ULH7		UPI00001FEE5A	NM_001308142.1	deleterious(0.01)		11/17		Low_complexity_(Seg):seg,hmmpanther:PTHR22793:SF5,hmmpanther:PTHR22793											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												T	3	4	53	14245556	14245556	G	T	1	0	0	0	0	1	0	0	0	9569	1348	47	2		2	MKL2	16	14245556	Missense_Mutation	SNP	G	C3N-00551_TP	9635344	14245556	76092789	485	17164											
ACSM1	0	.	GRCh38	chr16	20624195	20624195	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacaggaactgtggggtcagGacaataaaggccttcaccac	13	6	12	10	0	2	0	2	0	0	0	2	3	2	2	2	5	1	0	2	5	4	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1548C>A	p.=	p.V516V	ENST00000307493	12/13	114	108	6	94	94	0	strelka-mutect	ACSM1,synonymous_variant,p.=,ENST00000307493,NM_001318890.1,NM_052956.2;ACSM1,synonymous_variant,p.=,ENST00000520010,;ACSM1,synonymous_variant,p.=,ENST00000524149,;ACSM3,intron_variant,,ENST00000568235,;ACSM1,3_prime_UTR_variant,,ENST00000519745,;ACSM1,intron_variant,,ENST00000519031,;RP11-143N13.3,upstream_gene_variant,,ENST00000618989,;	T	ENST00000307493	Transcript	synonymous_variant	1616/2051	1548/1734	516/577	V	gtC/gtA		1		-1	ACSM1	HGNC	HGNC:18049	protein_coding	YES	CCDS10587.1	ENSP00000301956	Q08AH1		UPI00000558D0	NM_001318890.1,NM_052956.2			12/13		hmmpanther:PTHR24095:SF150,hmmpanther:PTHR24095,Gene3D:3.30.300.30,Pfam_domain:PF13193,Superfamily_domains:SSF56801																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	20624195	20624195	G	T	1	0	0	0	0	0	0	0	1	224	1161	41	2		2	ACSM1	16	20624195	Silent	SNP	G	C3N-00551_TP	6378639	20624195	69714150	486	17165											
SCNN1B	0	.	GRCh38	chr16	23348783	23348783	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctgctcttcgccgccCtcgtctgctggcagtggggc	2	10	12	17	3	3	0	1	0	2	0	5	0	3	0	3	3	2	3	3	3	0	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.184C>G	p.Leu62Val	p.L62V	ENST00000343070	2/13	422	327	95	445	445	0	strelka-varscan-mutect	SCNN1B,missense_variant,p.Leu62Val,ENST00000343070,NM_000336.2;SCNN1B,missense_variant,p.Leu107Val,ENST00000307331,;SCNN1B,missense_variant,p.Leu62Val,ENST00000568923,;SCNN1B,missense_variant,p.Leu62Val,ENST00000568085,;SCNN1B,non_coding_transcript_exon_variant,,ENST00000569789,;SCNN1B,missense_variant,p.Leu62Val,ENST00000564275,;SCNN1B,upstream_gene_variant,,ENST00000566870,;	G	ENST00000343070	Transcript	missense_variant	360/2597	184/1923	62/640	L/V	Ctc/Gtc		1		1	SCNN1B	HGNC	HGNC:10600	protein_coding	YES	CCDS10609.1	ENSP00000345751	P51168	B2R812	UPI0000135616	NM_000336.2	tolerated(0.09)		2/13		Pfam_domain:PF00858,Prints_domain:PR01078,hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF18,TIGRFAM_domain:TIGR00859,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	23348783	23348783	C	G	1	0	0	0	0	1	0	0	0	14197	681	24	4		4	SCNN1B	16	23348783	Missense_Mutation	SNP	C	C3N-00551_TP	2724588	23348783	66989562	487	17166											
PLK1	0	.	GRCh38	chr16	23689947	23689947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgcacataccgcctgagtCtcctggaggagtacggctgc	7	8	12	14	3	1	1	0	1	1	0	3	3	2	3	4	3	3	3	4	3	2	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1696C>G	p.Leu566Val	p.L566V	ENST00000300093	10/10	287	271	16	283	283	0	strelka-varscan-mutect	PLK1,missense_variant,p.Leu566Val,ENST00000300093,NM_005030.4;ERN2,downstream_gene_variant,,ENST00000634482,NM_033266.3;ERN2,downstream_gene_variant,,ENST00000256797,;ERN2,downstream_gene_variant,,ENST00000457008,NM_001308220.1;CTD-2196E14.5,upstream_gene_variant,,ENST00000566143,;PLK1,non_coding_transcript_exon_variant,,ENST00000562272,;PLK1,non_coding_transcript_exon_variant,,ENST00000564794,;ERN2,downstream_gene_variant,,ENST00000562562,;ERN2,downstream_gene_variant,,ENST00000562458,;PLK1,downstream_gene_variant,,ENST00000564947,;PLK1,downstream_gene_variant,,ENST00000562407,;	G	ENST00000300093	Transcript	missense_variant	1807/2227	1696/1812	566/603	L/V	Ctc/Gtc		1		1	PLK1	HGNC	HGNC:9077	protein_coding	YES	CCDS10616.1	ENSP00000300093	P53350		UPI0000131BF9	NM_005030.4	tolerated(0.3)		10/10		PROSITE_profiles:PS50078,hmmpanther:PTHR24345,Pfam_domain:PF00659,Gene3D:3.30.1120.30,Superfamily_domains:SSF82615																	MODERATE	1	SNV	1			1										PASS		rs1048434068	.												G	3	3	53	23689947	23689947	C	G	1	0	0	0	0	1	0	0	0	12190	913	32	4		4	PLK1	16	23689947	Missense_Mutation	SNP	C	C3N-00551_TP	341164	23689947	66648398	488	17167											
TNRC6A	0	.	GRCh38	chr16	24789402	24789402	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggagttggcttcagaatgtAtggatgctgattctgcctcc	7	13	12	9	1	2	2	1	1	1	1	3	4	3	4	2	3	2	4	2	3	2	4	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.760A>G	p.Met254Val	p.M254V	ENST00000395799	6/25	135	111	24	207	207	0	strelka-varscan-mutect	TNRC6A,missense_variant,p.Met254Val,ENST00000395799,NM_014494.2;TNRC6A,missense_variant,p.Met254Val,ENST00000315183,;TNRC6A,upstream_gene_variant,,ENST00000450465,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,upstream_gene_variant,,ENST00000568903,;TNRC6A,upstream_gene_variant,,ENST00000567232,;	G	ENST00000395799	Transcript	missense_variant	889/8438	760/5889	254/1962	M/V	Atg/Gtg		1		1	TNRC6A	HGNC	HGNC:11969	protein_coding	YES	CCDS10624.2	ENSP00000379144	Q8NDV7		UPI000059D33E	NM_014494.2	tolerated(0.31)		6/25		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	53	24789402	24789402	A	G	1	0	0	0	0	1	0	0	0	16813	449	16	5		5	TNRC6A	16	24789402	Missense_Mutation	SNP	A	C3N-00551_TP	1099455	24789402	65548943	489	17168											
C16orf82	0	.	GRCh38	chr16	27067060	27067060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggggaatcctctgtccAgaatgagcaggaaggagagc	15	5	14	7	0	1	3	0	1	1	2	3	6	3	5	2	4	2	1	2	4	5	0	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.254A>G	p.Gln85Arg	p.Q85R	ENST00000505035	1/1	384	242	142	451	451	0	strelka-varscan-mutect	C16orf82,missense_variant,p.Gln85Arg,ENST00000505035,;C16orf82,missense_variant,p.Gln22Arg,ENST00000418886,NM_001145545.1;RP11-673P17.2,intron_variant,,ENST00000565783,;	G	ENST00000505035	Transcript	missense_variant	354/2459	254/654	85/217	Q/R	cAg/cGg		1		1	C16orf82	HGNC	HGNC:30755	protein_coding	YES		ENSP00000489874	Q7Z2V1		UPI00001B3F63		tolerated(0.25)		1/1		Pfam_domain:PF15765,hmmpanther:PTHR40139,hmmpanther:PTHR40139:SF1																	MODERATE		SNV				1										PASS		.	.												G	3	3	53	27067060	27067060	A	G	1	0	0	0	0	1	0	0	0	1867	188	7	5		5	C16orf82	16	27067060	Missense_Mutation	SNP	A	C3N-00551_TP	2277658	27067060	63271285	490	17169											
C16orf82	0	.	GRCh38	chr16	27067440	27067440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccgcccacagcaccaagCagactggagggaaagagtga	13	2	13	13	1	0	3	0	1	0	2	0	5	0	5	4	2	2	2	4	2	2	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.634C>A	p.Gln212Lys	p.Q212K	ENST00000505035	1/1	101	72	29	99	99	0	strelka-varscan-mutect	C16orf82,missense_variant,p.Gln212Lys,ENST00000505035,;C16orf82,missense_variant,p.Gln149Lys,ENST00000418886,NM_001145545.1;RP11-673P17.2,non_coding_transcript_exon_variant,,ENST00000565783,;	A	ENST00000505035	Transcript	missense_variant	734/2459	634/654	212/217	Q/K	Cag/Aag		1		1	C16orf82	HGNC	HGNC:30755	protein_coding	YES		ENSP00000489874	Q7Z2V1		UPI00001B3F63		tolerated(0.06)		1/1		Pfam_domain:PF15765,hmmpanther:PTHR40139,hmmpanther:PTHR40139:SF1																	MODERATE		SNV				1										PASS		rs896806060	.												A	3	1	53	27067440	27067440	C	A	1	0	0	0	0	1	0	0	0	1867	711	25	2		2	C16orf82	16	27067440	Missense_Mutation	SNP	C	C3N-00551_TP	380	27067440	63270905	491	17170											
KDM8	0	.	GRCh38	chr16	27215010	27215010	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaatacatcgtgaatgaggTacatcatggggactgctttc	12	11	10	8	1	1	2	1	2	0	0	3	3	1	3	0	3	3	2	0	3	4	3	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.912+2T>C		p.X304_splice	ENST00000441782		150	126	24	145	145	0	strelka-varscan-mutect	KDM8,splice_donor_variant,,ENST00000286096,NM_024773.2;KDM8,splice_donor_variant,,ENST00000441782,NM_001145348.1;KDM8,splice_donor_variant,,ENST00000567735,;KDM8,intron_variant,,ENST00000568965,;KDM8,downstream_gene_variant,,ENST00000569329,;KDM8,downstream_gene_variant,,ENST00000562733,;CTD-3203P2.1,upstream_gene_variant,,ENST00000567108,;KDM8,splice_donor_variant,,ENST00000567785,;KDM8,splice_donor_variant,,ENST00000567366,;KDM8,downstream_gene_variant,,ENST00000562269,;KDM8,splice_donor_variant,,ENST00000563571,;KDM8,splice_donor_variant,,ENST00000568792,;KDM8,downstream_gene_variant,,ENST00000564961,;	C	ENST00000441782	Transcript	splice_donor_variant	-/1612	912/1365	304/454				1		1	KDM8	HGNC	HGNC:25840	protein_coding	YES	CCDS45448.1	ENSP00000398410	Q8N371		UPI00017A73AE	NM_001145348.1				4/7																		HIGH	1	SNV	2			1										PASS		.	.												C	5	2	53	27215010	27215010	T	C	1	0	0	0	0	0	0	1	0	8058	1652	57	5		5	KDM8	16	27215010	Splice_Site	SNP	T	C3N-00551_TP	147570	27215010	63123335	492	17171											
NUDT21	0	.	GRCh38	chr16	56447911	56447911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaattcttccctcatgcgCtgaaatctggctgcaacaga	11	11	7	12	1	4	2	2	1	2	1	5	2	5	2	1	1	3	3	1	1	3	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.195G>T	p.Gln65His	p.Q65H	ENST00000300291	2/7	291	250	41	386	386	0	strelka-varscan-mutect	NUDT21,missense_variant,p.Gln65His,ENST00000300291,NM_007006.2;NUDT21,5_prime_UTR_variant,,ENST00000566340,;NUDT21,5_prime_UTR_variant,,ENST00000568822,;OGFOD1,upstream_gene_variant,,ENST00000566157,NM_018233.3;OGFOD1,upstream_gene_variant,,ENST00000568397,;OGFOD1,upstream_gene_variant,,ENST00000562150,;OGFOD1,upstream_gene_variant,,ENST00000561646,;OGFOD1,upstream_gene_variant,,ENST00000568172,;NUDT21,non_coding_transcript_exon_variant,,ENST00000567110,;OGFOD1,upstream_gene_variant,,ENST00000336111,;OGFOD1,upstream_gene_variant,,ENST00000563733,;OGFOD1,upstream_gene_variant,,ENST00000569645,;OGFOD1,upstream_gene_variant,,ENST00000565682,;NUDT21,upstream_gene_variant,,ENST00000612596,;OGFOD1,upstream_gene_variant,,ENST00000569802,;	A	ENST00000300291	Transcript	missense_variant	368/4436	195/684	65/227	Q/H	caG/caT		1		-1	NUDT21	HGNC	HGNC:13870	protein_coding	YES	CCDS10760.1	ENSP00000300291	O43809	A0A024R6W2	UPI0000073E79	NM_007006.2	deleterious(0.01)		2/7		Gene3D:3.90.79.10,Pfam_domain:PF13869,PIRSF_domain:PIRSF017888,hmmpanther:PTHR13047																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	56447911	56447911	C	A	1	0	0	0	0	1	0	0	0	10802	796	28	2		2	NUDT21	16	56447911	Missense_Mutation	SNP	C	C3N-00551_TP	29232901	56447911	33890434	493	17172											
CNOT1	0	.	GRCh38	chr16	58547644	58547644	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcagcaaagaacgatcTgagaaattggctgcagcttt	12	12	9	8	1	3	2	1	1	2	2	3	4	3	2	0	1	4	4	0	1	3	4	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.3561A>G	p.=	p.S1187S	ENST00000317147	26/49	143	135	8	173	173	0	strelka-varscan-mutect	CNOT1,synonymous_variant,p.=,ENST00000317147,NM_016284.4;CNOT1,synonymous_variant,p.=,ENST00000569240,NM_001265612.1;CNOT1,synonymous_variant,p.=,ENST00000441024,NM_206999.2;CNOT1,intron_variant,,ENST00000567285,;CNOT1,downstream_gene_variant,,ENST00000562046,;CNOT1,upstream_gene_variant,,ENST00000567133,;SNORA46,downstream_gene_variant,,ENST00000384762,;CNOT1,downstream_gene_variant,,ENST00000569732,;CNOT1,synonymous_variant,p.=,ENST00000567188,;CNOT1,upstream_gene_variant,,ENST00000566240,;	C	ENST00000317147	Transcript	synonymous_variant	3894/8471	3561/7131	1187/2376	S	tcA/tcG		1		-1	CNOT1	HGNC	HGNC:7877	protein_coding	YES	CCDS10799.1	ENSP00000320949	A5YKK6		UPI00001FF2F6	NM_016284.4			26/49		hmmpanther:PTHR13162,Pfam_domain:PF16415																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	53	58547644	58547644	T	C	1	0	0	0	0	0	0	0	1	3396	1567	55	5		5	CNOT1	16	58547644	Silent	SNP	T	C3N-00551_TP	2099733	58547644	31790701	494	17173											
CDH11	0	.	GRCh38	chr16	64950767	64950767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaccaggaagcgcccttacCcaggagaatgacgatgcagg	12	4	14	11	2	0	2	0	1	0	1	0	6	0	4	3	4	3	1	3	4	3	1			C3N-00551_TP	C3N-00551_NB	C	C																c.1894G>T	p.Val632Phe	p.V632F	ENST00000268603	12/13	100	90	10	99	99	0	strelka-varscan-mutect	CDH11,missense_variant,p.Gly632Cys,ENST00000394156,NM_001308392.1;CDH11,missense_variant,p.Val632Phe,ENST00000268603,NM_001797.2;CDH11,missense_variant,p.Val506Phe,ENST00000566827,;	A	ENST00000268603	Transcript	missense_variant,splice_region_variant	2510/6857	1894/2391	632/796	V/F	Gtc/Ttc	COSM4871464,COSM972128	1		-1	CDH11	HGNC	HGNC:1750	protein_coding	YES	CCDS10803.1	ENSP00000268603	P55287		UPI000013D7C5	NM_001797.2	deleterious(0.01)		12/13		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1454976552	.												A	3	1	53	64950767	64950767	C	A	1	0	0	0	0	1	0	0	0	2800	637	22	2		2	CDH11	16	64950767	Missense_Mutation	SNP	C	C3N-00551_TP	6403123	64950767	25387578	495	17174											
CDH11	0	.	GRCh38	chr16	64982230	64982230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagggccattgctgataaaCttcgggtcgatgtgcacgtt	10	11	12	8	3	0	1	0	1	0	0	2	2	0	1	1	2	3	3	1	2	3	4	rs539135992		C3N-00551_TP	C3N-00551_NB	C	C																c.1071G>T	p.Lys357Asn	p.K357N	ENST00000268603	8/13	273	256	17	362	362	0	strelka-varscan-mutect	CDH11,missense_variant,p.Lys357Asn,ENST00000394156,NM_001308392.1;CDH11,missense_variant,p.Lys357Asn,ENST00000268603,NM_001797.2;CDH11,missense_variant,p.Lys231Asn,ENST00000566827,;CDH11,downstream_gene_variant,,ENST00000619158,;RP11-229O3.1,non_coding_transcript_exon_variant,,ENST00000624875,;	A	ENST00000268603	Transcript	missense_variant	1687/6857	1071/2391	357/796	K/N	aaG/aaT	rs539135992	1		-1	CDH11	HGNC	HGNC:1750	protein_coding	YES	CCDS10803.1	ENSP00000268603	P55287		UPI000013D7C5	NM_001797.2	tolerated(0.07)		8/13		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs539135992	.												A	3	1	53	64982230	64982230	C	A	1	0	0	0	0	1	0	0	0	2800	564	20	2		2	CDH11	16	64982230	Missense_Mutation	SNP	C	C3N-00551_TP	31463	64982230	25356115	496	17175											
ESRP2	0	.	GRCh38	chr16	68235896	68235896	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaactaggaggattaagtcGgtctcgtccgagcccaggtc	10	8	12	11	3	1	0	0	0	1	0	5	3	2	2	2	4	2	0	2	4	3	2	rs571597168		C3N-00551_TP	C3N-00551_NB	G	G																c.150C>A	p.=	p.T50T	ENST00000473183	1/15	219	171	48	293	293	0	strelka-varscan-mutect	ESRP2,synonymous_variant,p.=,ENST00000473183,NM_024939.2;ESRP2,synonymous_variant,p.=,ENST00000565858,;ESRP2,intron_variant,,ENST00000564382,;ESRP2,intron_variant,,ENST00000562724,;ESRP2,upstream_gene_variant,,ENST00000612812,;RP11-96D1.6,downstream_gene_variant,,ENST00000564147,;ESRP2,non_coding_transcript_exon_variant,,ENST00000251366,;ESRP2,upstream_gene_variant,,ENST00000566774,;ESRP2,upstream_gene_variant,,ENST00000562567,;ESRP2,upstream_gene_variant,,ENST00000564465,;ESRP2,upstream_gene_variant,,ENST00000563159,;ESRP2,upstream_gene_variant,,ENST00000562738,;ESRP2,upstream_gene_variant,,ENST00000569964,;ESRP2,upstream_gene_variant,,ENST00000565213,;	T	ENST00000473183	Transcript	synonymous_variant	689/3793	150/2154	50/717	T	acC/acA	rs571597168	1		-1	ESRP2	HGNC	HGNC:26152	protein_coding	YES	CCDS10863.1	ENSP00000418748	Q9H6T0		UPI000006FB08	NM_024939.2			1/15		Gene3D:3.30.420.10,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF30																	LOW	1	SNV	1			1										PASS		rs571597168	.												T	2	4	53	68235896	68235896	G	T	1	0	0	0	0	0	0	0	1	5121	1103	39	1		1	ESRP2	16	68235896	Silent	SNP	G	C3N-00551_TP	3253666	68235896	22102449	497	17176											
CNTNAP4	0	.	GRCh38	chr16	76538268	76538268	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttagtttccgaacaacaCgaacaccaagcttgctgctt	13	11	6	11	2	0	0	0	0	0	0	1	2	1	0	2	0	6	4	2	0	6	5	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.3148C>A	p.=	p.R1050R	ENST00000611870	19/24	175	162	13	349	348	1	strelka-varscan-mutect	CNTNAP4,synonymous_variant,p.=,ENST00000307431,;CNTNAP4,synonymous_variant,p.=,ENST00000611870,NM_033401.3;CNTNAP4,synonymous_variant,p.=,ENST00000377504,;CNTNAP4,synonymous_variant,p.=,ENST00000476707,;CNTNAP4,synonymous_variant,p.=,ENST00000622250,;CNTNAP4,synonymous_variant,p.=,ENST00000478060,NM_138994.3;	A	ENST00000611870	Transcript	synonymous_variant	3533/4867	3148/3927	1050/1308	R	Cga/Aga		1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3			19/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659,SMART_domains:SM00282,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		rs1220482671	.												A	2	1	53	76538268	76538268	C	A	1	0	0	0	0	0	0	0	1	3431	528	19	1		1	CNTNAP4	16	76538268	Silent	SNP	C	C3N-00551_TP	8302372	76538268	13800077	498	17177											
VAT1L	0	.	GRCh38	chr16	77825296	77825296	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacaatgcctgggcagaggtGgtctgcacaccagtggagtt	9	9	14	9	0	1	1	0	0	1	1	1	2	1	2	2	4	3	3	2	4	2	2	rs768480632		C3N-00551_TP	C3N-00551_NB	G	G																c.414G>T	p.=	p.V138V	ENST00000302536	3/9	383	332	51	437	437	0	strelka-varscan-mutect	VAT1L,synonymous_variant,p.=,ENST00000302536,NM_020927.2;	T	ENST00000302536	Transcript	synonymous_variant	567/3825	414/1260	138/419	V	gtG/gtT	rs768480632	1		1	VAT1L	HGNC	HGNC:29315	protein_coding	YES	CCDS32492.1	ENSP00000303129	Q9HCJ6		UPI00000741CE	NM_020927.2			3/9		Gene3D:3.90.180.10,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF600,SMART_domains:SM00829,Superfamily_domains:SSF50129																	LOW	1	SNV	1			1										PASS		rs768480632	.												T	2	4	53	77825296	77825296	G	T	1	0	0	0	0	0	0	0	1	17675	1335	47	2		2	VAT1L	16	77825296	Silent	SNP	G	C3N-00551_TP	1287028	77825296	12513049	499	17178											
ATMIN	0	.	GRCh38	chr16	81044147	81044147	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatagtttgttacctcagaAtgagcctaagactttaaatc	13	14	6	8	0	2	3	2	1	0	2	3	3	2	3	2	0	2	2	2	0	6	6	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.1649A>G	p.Asn550Ser	p.N550S	ENST00000299575	4/4	136	115	21	193	193	0	strelka-varscan-mutect	ATMIN,missense_variant,p.Asn394Ser,ENST00000566488,;ATMIN,missense_variant,p.Asn550Ser,ENST00000299575,NM_015251.2;ATMIN,missense_variant,p.Asn394Ser,ENST00000564241,NM_001300728.1;ATMIN,downstream_gene_variant,,ENST00000565237,;ATMIN,non_coding_transcript_exon_variant,,ENST00000539819,;ATMIN,downstream_gene_variant,,ENST00000562969,;	G	ENST00000299575	Transcript	missense_variant	1673/4884	1649/2472	550/823	N/S	aAt/aGt		1		1	ATMIN	HGNC	HGNC:29034	protein_coding	YES	CCDS32494.1	ENSP00000299575	O43313		UPI00001B2485	NM_015251.2	tolerated(0.4)		4/4		hmmpanther:PTHR10593:SF10,hmmpanther:PTHR10593																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	81044147	81044147	A	G	1	0	0	0	0	1	0	0	0	1262	101	4	5		5	ATMIN	16	81044147	Missense_Mutation	SNP	A	C3N-00551_TP	3218851	81044147	9294198	500	17179											
DNAAF1	0	.	GRCh38	chr16	84170176	84170176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctgaggccccaccacccCcgccacctgtggaggttaaa	9	5	10	17	1	0	1	0	1	0	0	0	2	0	2	7	3	1	2	7	3	2	1	rs777616161		C3N-00551_TP	C3N-00551_NB	C	C																c.1348C>G	p.Pro450Ala	p.P450A	ENST00000378553	8/12	332	280	52	542	541	1	strelka-varscan-mutect	DNAAF1,missense_variant,p.Pro450Ala,ENST00000378553,NM_178452.4;DNAAF1,non_coding_transcript_exon_variant,,ENST00000563818,;DNAAF1,downstream_gene_variant,,ENST00000567666,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,;DNAAF1,intron_variant,,ENST00000563093,;	G	ENST00000378553	Transcript	missense_variant	1472/2379	1348/2178	450/725	P/A	Ccg/Gcg	rs777616161	1		1	DNAAF1	HGNC	HGNC:30539	protein_coding	YES	CCDS10943.2	ENSP00000367815	Q8NEP3	A0A140VJN4	UPI000059D3C9	NM_178452.4	tolerated(0.63)		8/12		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs777616161	.												G	3	3	53	84170176	84170176	C	G	1	0	0	0	0	1	0	0	0	4406	623	22	4		4	DNAAF1	16	84170176	Missense_Mutation	SNP	C	C3N-00551_TP	3126029	84170176	6168169	501	17180											
COX4I1	0	.	GRCh38	chr16	85805778	85805778	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttgctgagatgaacagggGctcgaacgagtggaagacgg	11	7	16	7	3	0	3	0	2	0	2	1	7	0	4	0	4	3	2	0	4	3	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.287G>T	p.Gly96Val	p.G96V	ENST00000562336	4/5	169	153	16	219	219	0	strelka-varscan-mutect	COX4I1,missense_variant,p.Gly96Val,ENST00000564903,;COX4I1,missense_variant,p.Gly96Val,ENST00000562336,;COX4I1,missense_variant,p.Gly96Val,ENST00000568794,;COX4I1,missense_variant,p.Gly96Val,ENST00000561569,;COX4I1,missense_variant,p.Gly96Val,ENST00000253452,NM_001318797.1,NM_001861.3;COX4I1,missense_variant,p.Gly58Val,ENST00000566405,;COX4I1,downstream_gene_variant,,ENST00000565078,;COX4I1,non_coding_transcript_exon_variant,,ENST00000562929,;COX4I1,downstream_gene_variant,,ENST00000570123,;COX4I1,3_prime_UTR_variant,,ENST00000564544,;COX4I1,non_coding_transcript_exon_variant,,ENST00000569997,;COX4I1,non_coding_transcript_exon_variant,,ENST00000568339,;COX4I1,non_coding_transcript_exon_variant,,ENST00000564648,;COX4I1,downstream_gene_variant,,ENST00000566617,;COX4I1,downstream_gene_variant,,ENST00000563774,;COX4I1,downstream_gene_variant,,ENST00000567241,;COX4I1,downstream_gene_variant,,ENST00000567266,;COX4I1,downstream_gene_variant,,ENST00000566115,;	T	ENST00000562336	Transcript	missense_variant	480/873	287/510	96/169	G/V	gGc/gTc		1		1	COX4I1	HGNC	HGNC:2265	protein_coding	YES	CCDS10955.1	ENSP00000457513	P13073		UPI0000128787		tolerated(0.23)		4/5		hmmpanther:PTHR10707:SF12,hmmpanther:PTHR10707,Gene3D:1v54D00,Pfam_domain:PF02936,Superfamily_domains:0041782,Prints_domain:PR01873																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	53	85805778	85805778	G	T	1	0	0	0	0	1	0	0	0	3565	1203	42	2		2	COX4I1	16	85805778	Missense_Mutation	SNP	G	C3N-00551_TP	1635602	85805778	4532567	502	17181											
ZNF469	0	.	GRCh38	chr16	88438281	88438281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcatctctgccgcggcCgggagccagaggccaagatg	7	4	18	12	3	1	2	0	0	1	2	2	3	1	3	4	5	2	1	4	5	1	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.10727C>A	p.Pro3576Gln	p.P3576Q	ENST00000437464	2/2	88	81	7	99	99	0	strelka-varscan-mutect	ZNF469,missense_variant,p.Pro3604Gln,ENST00000565624,;ZNF469,missense_variant,p.Pro3576Gln,ENST00000437464,NM_001127464.2;	A	ENST00000437464	Transcript	missense_variant	10727/13203	10727/11778	3576/3925	P/Q	cCg/cAg		1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2	deleterious(0.02)		2/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	MODERATE	1	SNV	5			1										PASS		rs957402222	.												A	3	1	53	88438281	88438281	C	A	1	0	0	0	0	1	0	0	0	18500	652	23	1		1	ZNF469	16	88438281	Missense_Mutation	SNP	C	C3N-00551_TP	2632503	88438281	1900064	503	17182											
TCF25	0	.	GRCh38	chr16	89904131	89904131	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagtcctcctgcccctGctcgagtcttgcagtgtgcg	3	11	11	16	2	1	0	0	0	1	0	4	1	3	0	5	0	5	3	5	0	0	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1395G>T	p.=	p.L465L	ENST00000263346	13/18	160	128	32	163	163	0	strelka-varscan-mutect	TCF25,synonymous_variant,p.=,ENST00000263347,;TCF25,synonymous_variant,p.=,ENST00000263346,NM_014972.2;TCF25,synonymous_variant,p.=,ENST00000562256,;TCF25,synonymous_variant,p.=,ENST00000568409,;TCF25,synonymous_variant,p.=,ENST00000562193,;TCF25,upstream_gene_variant,,ENST00000566283,;TCF25,non_coding_transcript_exon_variant,,ENST00000570116,;TCF25,downstream_gene_variant,,ENST00000563636,;TCF25,downstream_gene_variant,,ENST00000562184,;RP11-566K11.7,upstream_gene_variant,,ENST00000570217,;TCF25,upstream_gene_variant,,ENST00000563484,;	T	ENST00000263346	Transcript	synonymous_variant	1451/2233	1395/2031	465/676	L	ctG/ctT		1		1	TCF25	HGNC	HGNC:29181	protein_coding	YES	CCDS10987.1	ENSP00000263346	Q9BQ70		UPI000012A80B	NM_014972.2			13/18		hmmpanther:PTHR22684,hmmpanther:PTHR22684:SF0,Pfam_domain:PF04910																	LOW	1	SNV	1			1										PASS		rs1222140728	.												T	2	4	53	89904131	89904131	G	T	1	0	0	0	0	0	0	0	1	16100	1306	46	2		2	TCF25	16	89904131	Silent	SNP	G	C3N-00551_TP	1465850	89904131	434214	504	17183											
HIC1	0	.	GRCh38	chr17	2056704	2056704	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacgatgctggacacgaTggaggcgcccggccactcca	9	4	14	14	4	0	1	0	0	0	1	1	5	1	3	3	4	1	2	3	4	0	0	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.71T>C	p.Met24Thr	p.M24T	ENST00000322941	2/2	86	73	13	78	78	0	strelka-varscan-mutect	HIC1,missense_variant,p.Met5Thr,ENST00000619757,;HIC1,missense_variant,p.Met5Thr,ENST00000399849,NM_006497.3;HIC1,missense_variant,p.Met24Thr,ENST00000322941,NM_001098202.1;HIC1,missense_variant,p.Met5Thr,ENST00000574370,;HIC1,missense_variant,p.Met5Thr,ENST00000571875,;HIC1,missense_variant,p.Met5Thr,ENST00000576444,;HIC1,missense_variant,p.Met5Thr,ENST00000571990,;SMG6,downstream_gene_variant,,ENST00000263073,NM_017575.4;SMG6,downstream_gene_variant,,ENST00000354901,NM_001256827.1;SMG6,downstream_gene_variant,,ENST00000536871,NM_001256828.1;SMG6,downstream_gene_variant,,ENST00000573166,;SMG6,downstream_gene_variant,,ENST00000570756,;SMG6,downstream_gene_variant,,ENST00000576218,;SMG6,downstream_gene_variant,,ENST00000573827,;SMG6,downstream_gene_variant,,ENST00000573153,;SMG6,downstream_gene_variant,,ENST00000574501,;	C	ENST00000322941	Transcript	missense_variant	71/3053	71/2202	24/733	M/T	aTg/aCg		1		1	HIC1	HGNC	HGNC:4909	protein_coding	YES	CCDS42229.1	ENSP00000314080	Q14526		UPI0000140F7F	NM_001098202.1	deleterious(0)		2/2		Gene3D:3.30.710.10,Superfamily_domains:SSF54695																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	53	2056704	2056704	T	C	1	0	0	0	0	1	0	0	0	6985	1464	51	5		5	HIC1	17	2056704	Missense_Mutation	SNP	T	C3N-00551_TP		2056704	81200737	505	17184											
ASPA	0	.	GRCh38	chr17	3483565	3483565	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctcaaatatgcgaccActcgttccatagccaagtat	11	11	5	14	2	1	0	1	0	0	0	4	1	3	0	4	0	2	2	4	0	5	5	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.499A>G	p.Thr167Ala	p.T167A	ENST00000263080	3/6	312	241	71	452	452	0	strelka-varscan-mutect	ASPA,missense_variant,p.Thr167Ala,ENST00000263080,NM_000049.2;ASPA,missense_variant,p.Thr167Ala,ENST00000456349,NM_001128085.1;SPATA22,intron_variant,,ENST00000541913,NM_001321336.1;SPATA22,intron_variant,,ENST00000570318,;ASPA,3_prime_UTR_variant,,ENST00000571278,;	G	ENST00000263080	Transcript	missense_variant	657/5431	499/942	167/313	T/A	Act/Gct		1		1	ASPA	HGNC	HGNC:756	protein_coding	YES	CCDS11028.1	ENSP00000263080	P45381	Q6FH48	UPI00000012D1	NM_000049.2	tolerated(0.41)		3/6		HAMAP:MF_00704,hmmpanther:PTHR15162,hmmpanther:PTHR15162:SF9,PIRSF_domain:PIRSF018001,Pfam_domain:PF04952,Gene3D:3.40.630.10,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	3483565	3483565	A	G	1	0	0	0	0	1	0	0	0	1197	159	6	5		5	ASPA	17	3483565	Missense_Mutation	SNP	A	C3N-00551_TP	1426861	3483565	79773876	506	17185											
SPNS3	0	.	GRCh38	chr17	4439706	4439706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagatcagtgacaaccatgCtggtttgcttcagactggta	10	11	10	10	0	2	3	2	1	0	2	2	3	2	3	2	2	3	4	2	2	2	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.248C>A	p.Ala83Asp	p.A83D	ENST00000355530	2/12	159	126	33	183	183	0	strelka-varscan-mutect	SPNS3,missense_variant,p.Ala83Asp,ENST00000355530,NM_182538.4;SPNS3,non_coding_transcript_exon_variant,,ENST00000576069,;SPNS3,missense_variant,p.Ala83Asp,ENST00000575194,NM_001320449.1;	A	ENST00000355530	Transcript	missense_variant	528/2133	248/1539	83/512	A/D	gCt/gAt		1		1	SPNS3	HGNC	HGNC:28433	protein_coding	YES	CCDS11045.1	ENSP00000347721	Q6ZMD2		UPI00001971EC	NM_182538.4	deleterious(0)		2/12		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR23505,hmmpanther:PTHR23505:SF3,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	53	4439706	4439706	C	A	1	0	0	0	0	1	0	0	0	15429	797	28	2		2	SPNS3	17	4439706	Missense_Mutation	SNP	C	C3N-00551_TP	956141	4439706	78817735	507	17186											
PELP1	0	.	GRCh38	chr17	4675125	4675125	+	Missense_Mutation	SNP	T	T	A																															gagggaatctctaccgatgcTccaggaattgaggacctggg																								novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1378A>T	p.Ser460Cys	p.S460C	ENST00000572293	11/17	152	127	25	221	221	0	strelka-varscan-mutect	PELP1,missense_variant,p.Ser460Cys,ENST00000572293,;PELP1,missense_variant,p.Ser460Cys,ENST00000301396,NM_014389.2;PELP1,missense_variant,p.Ser263Cys,ENST00000436683,NM_001278241.1;PELP1,missense_variant,p.Ser410Cys,ENST00000574876,;PELP1,downstream_gene_variant,,ENST00000570571,;PELP1,downstream_gene_variant,,ENST00000570387,;PELP1,downstream_gene_variant,,ENST00000575101,;AC091153.4,intron_variant,,ENST00000631268,;AC091153.4,upstream_gene_variant,,ENST00000441700,;PELP1,3_prime_UTR_variant,,ENST00000575329,;PELP1,non_coding_transcript_exon_variant,,ENST00000573523,;PELP1,non_coding_transcript_exon_variant,,ENST00000575534,;PELP1,upstream_gene_variant,,ENST00000573242,;PELP1,downstream_gene_variant,,ENST00000573506,;	A	ENST00000572293	Transcript	missense_variant	1442/5272	1378/3543	460/1180	S/C	Agc/Tgc		1		-1	PELP1	HGNC	HGNC:30134	protein_coding	YES	CCDS58503.2	ENSP00000460300		C9JFV4	UPI0001AE6688		deleterious(0)		11/17																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	4675125	4675125	T	A	1	0	0	0	0	1	0	0	0	11813	1551	54	4		4	PELP1	17	4675125	Missense_Mutation	SNP	T	C3N-00551_TP	235419	4675125	78582316	508	17187	369	2									
PELP1	0	.	GRCh38	chr17	4675126	4675126	+	Missense_Mutation	SNP	C	C	A																															agggaatctctaccgatgctCcaggaattgaggacctgggg																								novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1377G>T	p.Trp459Cys	p.W459C	ENST00000572293	11/17	155	130	25	225	224	1	strelka-varscan-mutect	PELP1,missense_variant,p.Trp459Cys,ENST00000572293,;PELP1,missense_variant,p.Trp459Cys,ENST00000301396,NM_014389.2;PELP1,missense_variant,p.Trp262Cys,ENST00000436683,NM_001278241.1;PELP1,missense_variant,p.Trp409Cys,ENST00000574876,;PELP1,downstream_gene_variant,,ENST00000570571,;PELP1,downstream_gene_variant,,ENST00000570387,;PELP1,downstream_gene_variant,,ENST00000575101,;AC091153.4,intron_variant,,ENST00000631268,;AC091153.4,upstream_gene_variant,,ENST00000441700,;PELP1,3_prime_UTR_variant,,ENST00000575329,;PELP1,non_coding_transcript_exon_variant,,ENST00000573523,;PELP1,non_coding_transcript_exon_variant,,ENST00000575534,;PELP1,upstream_gene_variant,,ENST00000573242,;PELP1,downstream_gene_variant,,ENST00000573506,;	A	ENST00000572293	Transcript	missense_variant	1441/5272	1377/3543	459/1180	W/C	tgG/tgT		1		-1	PELP1	HGNC	HGNC:30134	protein_coding	YES	CCDS58503.2	ENSP00000460300		C9JFV4	UPI0001AE6688		deleterious(0)		11/17																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	4675126	4675126	C	A	1	0	0	0	0	1	0	0	0	11813	856	30	2		2	PELP1	17	4675126	Missense_Mutation	SNP	C	C3N-00551_TP	1	4675126	78582315	509	17188	369	2									
ZMYND15	0	.	GRCh38	chr17	4743836	4743836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccccacatccaccccGgggtgtttttggtgagctgg	4	11	13	13	1	0	1	0	1	0	0	1	1	1	1	5	4	2	2	5	4	0	2	rs750129765		C3N-00551_TP	C3N-00551_NB	G	G																c.1367G>T	p.Arg456Leu	p.R456L	ENST00000269289	7/14	103	82	21	129	129	0	strelka-varscan-mutect	ZMYND15,missense_variant,p.Arg456Leu,ENST00000269289,NM_001267822.1;ZMYND15,missense_variant,p.Arg456Leu,ENST00000433935,NM_001136046.2;ZMYND15,missense_variant,p.Arg456Leu,ENST00000573751,;ZMYND15,missense_variant,p.Arg456Leu,ENST00000592813,NM_032265.2;CXCL16,upstream_gene_variant,,ENST00000293778,NM_022059.3;CXCL16,upstream_gene_variant,,ENST00000574412,NM_001100812.1;CXCL16,upstream_gene_variant,,ENST00000573123,;ZMYND15,non_coding_transcript_exon_variant,,ENST00000574829,;ZMYND15,non_coding_transcript_exon_variant,,ENST00000571782,;	T	ENST00000269289	Transcript	missense_variant	1433/2448	1367/2253	456/750	R/L	cGg/cTg	rs750129765	1		1	ZMYND15	HGNC	HGNC:20997	protein_coding	YES	CCDS58506.1	ENSP00000269289	Q9H091		UPI0000D4C064	NM_001267822.1	tolerated(0.33)		7/14		hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF161																	MODERATE		SNV	5			1										PASS		rs750129765	.												T	3	4	53	4743836	4743836	G	T	1	0	0	0	0	1	0	0	0	18288	1116	39	1		1	ZMYND15	17	4743836	Missense_Mutation	SNP	G	C3N-00551_TP	68710	4743836	78513605	510	17189											
PITPNM3	0	.	GRCh38	chr17	6538016	6538016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagaattcatcatctgagCtctccacagagtcactgagg	13	9	8	11	0	5	4	3	2	2	2	6	4	5	4	1	1	1	1	1	1	2	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.89G>T	p.Ser30Ile	p.S30I	ENST00000262483	2/20	399	326	73	468	468	0	strelka-varscan-mutect	PITPNM3,missense_variant,p.Ser30Ile,ENST00000262483,NM_031220.3;PITPNM3,missense_variant,p.Ser30Ile,ENST00000421306,NM_001165966.1;	A	ENST00000262483	Transcript	missense_variant	177/7086	89/2925	30/974	S/I	aGc/aTc		1		-1	PITPNM3	HGNC	HGNC:21043	protein_coding	YES	CCDS11076.1	ENSP00000262483	Q9BZ71		UPI000022A281	NM_031220.3	deleterious(0)		2/20		hmmpanther:PTHR10658,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	6538016	6538016	C	A	1	0	0	0	0	1	0	0	0	12048	797	28	2		2	PITPNM3	17	6538016	Missense_Mutation	SNP	C	C3N-00551_TP	1794180	6538016	76719425	511	17190											
TP53	0	.	GRCh38	chr17	7673783	7673783	+	Frame_Shift_Del	DEL	C	C	-																															tcctctgtgcgccggtctctCccaggacaggcacaaacacg																								rs786201322		C3N-00551_TP	C3N-00551_NB	C	C																c.837delG	p.Arg280GlufsTer65	p.R280Efs*65	ENST00000269305	8/11	637	503	134	650	650	0	sindel-varindel-pindel	TP53,frameshift_variant,p.Arg280GlufsTer71,ENST00000617185,NM_001126114.2;TP53,frameshift_variant,p.Arg280GlufsTer71,ENST00000420246,;TP53,frameshift_variant,p.Arg241GlufsTer71,ENST00000622645,NM_001276696.1;TP53,frameshift_variant,p.Arg241GlufsTer65,ENST00000610292,NM_001126118.1;TP53,frameshift_variant,p.Arg280GlufsTer63,ENST00000455263,NM_001126113.2;TP53,frameshift_variant,p.Arg241GlufsTer63,ENST00000610538,NM_001276695.1;TP53,frameshift_variant,p.Arg280GlufsTer65,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,frameshift_variant,p.Arg241GlufsTer65,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,frameshift_variant,p.Arg280GlufsTer65,ENST00000445888,;TP53,frameshift_variant,p.Arg241GlufsTer65,ENST00000619485,;TP53,frameshift_variant,p.Arg148GlufsTer71,ENST00000510385,NM_001126116.1;TP53,frameshift_variant,p.Arg121GlufsTer71,ENST00000618944,NM_001276698.1;TP53,frameshift_variant,p.Arg148GlufsTer63,ENST00000504290,NM_001126117.1;TP53,frameshift_variant,p.Arg121GlufsTer63,ENST00000610623,NM_001276699.1;TP53,frameshift_variant,p.Arg148GlufsTer65,ENST00000504937,NM_001126115.1;TP53,frameshift_variant,p.Arg121GlufsTer65,ENST00000619186,NM_001276697.1;TP53,frameshift_variant,p.Arg280GlufsTer72,ENST00000359597,;TP53,frameshift_variant,p.Arg269GlufsTer65,ENST00000615910,;TP53,frameshift_variant,p.Arg148GlufsTer?,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,frameshift_variant,p.Arg241GlufsTer65,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	-	ENST00000269305	Transcript	frameshift_variant	1027/2579	837/1182	279/393	G/X	ggG/gg	rs786201322,CD963012,TP53_g.13817G>T,TP53_g.13817G>A,COSM45624,COSM46284	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5			8/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										likely_benign	0,0,0,0,1,1						HIGH	1	deletion	1		1,1,0,0,1,1	1										PASS		.	.												-	7	5	53	7673783	7673783	C	-	1	0	1	0	1	0	0	0	0	16859	842	30	0		0	TP53	17	7673783	Frame_Shift_Del	DEL	C	C3N-00551_TP	1135767	7673783	75583658	512	17191											
DNAH2	0	.	GRCh38	chr17	7763922	7763922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgcacctcaagttctccCtggtgcagcactgcaatgaa	9	10	9	13	1	2	1	1	1	1	0	4	1	2	1	2	1	3	6	2	1	3	2	rs377307607		C3N-00551_TP	C3N-00551_NB	C	C																c.3070C>A	p.Leu1024Met	p.L1024M	ENST00000572933	19/86	339	257	82	406	406	0	strelka-varscan-mutect	DNAH2,missense_variant,p.Leu1024Met,ENST00000572933,NM_020877.3;DNAH2,missense_variant,p.Leu1024Met,ENST00000389173,;DNAH2,missense_variant,p.Leu95Met,ENST00000574518,;	A	ENST00000572933	Transcript	missense_variant	4530/14955	3070/13284	1024/4427	L/M	Ctg/Atg	rs377307607	1		1	DNAH2	HGNC	HGNC:2948	protein_coding	YES	CCDS32551.1	ENSP00000458355	Q9P225		UPI00005B2F0D	NM_020877.3	deleterious(0.01)		19/86		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183																	MODERATE	1	SNV	1			1										PASS		rs377307607	.												A	3	1	53	7763922	7763922	C	A	1	0	0	0	0	1	0	0	0	4417	680	24	2		2	DNAH2	17	7763922	Missense_Mutation	SNP	C	C3N-00551_TP	90139	7763922	75493519	513	17192											
MYH8	0	.	GRCh38	chr17	10401428	10401428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtttcatccaggcctgcCatctcttctgtaagattttt	7	17	7	10	0	3	1	1	0	2	1	5	1	4	1	3	2	1	2	3	2	1	5	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2955G>T	p.Met985Ile	p.M985I	ENST00000403437	24/40	341	279	62	380	380	0	strelka-varscan-mutect	MYH8,missense_variant,p.Met985Ile,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000403437	Transcript	missense_variant	3050/6041	2955/5814	985/1937	M/I	atG/atT		1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2	tolerated(0.07)		24/40		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF368,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	53	10401428	10401428	C	A	1	0	0	0	0	1	0	0	0	10041	594	21	2		2	MYH8	17	10401428	Missense_Mutation	SNP	C	C3N-00551_TP	2637506	10401428	72856013	514	17193											
MYH4	0	.	GRCh38	chr17	10455697	10455697	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacaccgttacacctCagctgatgcaggacaagctc	11	7	8	15	1	1	1	1	1	0	0	3	2	2	2	3	1	5	5	3	1	2	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2091G>T	p.=	p.L697L	ENST00000255381	19/40	229	190	39	354	353	1	strelka-varscan-mutect	MYH4,synonymous_variant,p.=,ENST00000255381,NM_017533.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000255381	Transcript	synonymous_variant	2202/6016	2091/5820	697/1939	L	ctG/ctT		1		-1	MYH4	HGNC	HGNC:7574	protein_coding	YES	CCDS11154.1	ENSP00000255381	Q9Y623		UPI000013CEAB	NM_017533.2			19/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF271,SMART_domains:SM00242,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	10455697	10455697	C	A	1	0	0	0	0	0	0	0	1	10037	813	29	2		2	MYH4	17	10455697	Silent	SNP	C	C3N-00551_TP	54269	10455697	72801744	515	17194											
SREBF1	0	.	GRCh38	chr17	17814675	17814675	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagccgctcagccgccTcctcatcccgccgcagccag	6	4	10	21	4	2	0	2	0	0	0	4	0	4	0	7	1	3	3	7	1	0	0	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.2765A>T	p.Glu922Val	p.E922V	ENST00000355815	16/20	604	557	47	564	564	0	strelka-varscan-mutect	SREBF1,missense_variant,p.Glu922Val,ENST00000355815,NM_001321096.2,NM_001005291.2;SREBF1,missense_variant,p.Glu892Val,ENST00000261646,NM_004176.4;SREBF1,missense_variant,p.Glu638Val,ENST00000395757,;RAI1,downstream_gene_variant,,ENST00000353383,NM_030665.3;SREBF1,downstream_gene_variant,,ENST00000423161,;SREBF1,upstream_gene_variant,,ENST00000478616,;SREBF1,downstream_gene_variant,,ENST00000577897,;SREBF1,upstream_gene_variant,,ENST00000486311,;MIR33B,upstream_gene_variant,,ENST00000385104,;MIR6777,upstream_gene_variant,,ENST00000613934,;RAI1,downstream_gene_variant,,ENST00000582514,;SREBF1,downstream_gene_variant,,ENST00000583732,;SREBF1,3_prime_UTR_variant,,ENST00000395751,;SREBF1,3_prime_UTR_variant,,ENST00000395756,;SREBF1,non_coding_transcript_exon_variant,,ENST00000490796,;SREBF1,non_coding_transcript_exon_variant,,ENST00000581707,;SREBF1,intron_variant,,ENST00000447641,;SREBF1,downstream_gene_variant,,ENST00000469356,;SREBF1,upstream_gene_variant,,ENST00000485080,;SREBF1,downstream_gene_variant,,ENST00000471445,;SREBF1,upstream_gene_variant,,ENST00000578469,;SREBF1,downstream_gene_variant,,ENST00000584760,;SREBF1,downstream_gene_variant,,ENST00000580540,;SREBF1,downstream_gene_variant,,ENST00000583080,;SREBF1,downstream_gene_variant,,ENST00000487401,;SREBF1,downstream_gene_variant,,ENST00000470247,;	A	ENST00000355815	Transcript	missense_variant	2935/4253	2765/3534	922/1177	E/V	gAg/gTg		1		-1	SREBF1	HGNC	HGNC:11289	protein_coding	YES	CCDS32583.1	ENSP00000348069	P36956		UPI00004432F6	NM_001321096.2,NM_001005291.2	tolerated(0.15)		16/20																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	17814675	17814675	T	A	1	0	0	0	0	1	0	0	0	15498	1551	54	4		4	SREBF1	17	17814675	Missense_Mutation	SNP	T	C3N-00551_TP	7358978	17814675	65442766	516	17195											
TOP3A	0	.	GRCh38	chr17	18306912	18306912	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtctacaaaattctcTgggcagtacttttcaatttc	10	17	6	8	0	3	1	1	1	2	0	5	1	3	1	0	1	2	2	0	1	5	7	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.369A>T	p.=	p.P123P	ENST00000542570	4/19	147	106	41	200	199	1	strelka-varscan-mutect	TOP3A,synonymous_variant,p.=,ENST00000542570,NM_004618.3;TOP3A,synonymous_variant,p.=,ENST00000321105,;TOP3A,synonymous_variant,p.=,ENST00000580095,;TOP3A,non_coding_transcript_exon_variant,,ENST00000584669,;TOP3A,downstream_gene_variant,,ENST00000582230,;TOP3A,downstream_gene_variant,,ENST00000584887,;TOP3A,missense_variant,p.Gln136Leu,ENST00000461127,;TOP3A,3_prime_UTR_variant,,ENST00000584582,;TOP3A,3_prime_UTR_variant,,ENST00000582981,;TOP3A,non_coding_transcript_exon_variant,,ENST00000469739,;TOP3A,non_coding_transcript_exon_variant,,ENST00000472959,;TOP3A,non_coding_transcript_exon_variant,,ENST00000583328,;TOP3A,upstream_gene_variant,,ENST00000583804,;TOP3A,upstream_gene_variant,,ENST00000581536,;TOP3A,downstream_gene_variant,,ENST00000585031,;TOP3A,downstream_gene_variant,,ENST00000580713,;RPL7AP65,upstream_gene_variant,,ENST00000418183,;	A	ENST00000542570	Transcript	synonymous_variant	598/4116	369/3006	123/1001	P	ccA/ccT		1		-1	TOP3A	HGNC	HGNC:11992	protein_coding	YES	CCDS11194.1	ENSP00000442336	Q13472		UPI00001371A0	NM_004618.3			4/19		PROSITE_profiles:PS50880,hmmpanther:PTHR11390:SF21,hmmpanther:PTHR11390,Pfam_domain:PF01751,Gene3D:3.40.50.140,SMART_domains:SM00493,Superfamily_domains:SSF56712																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	18306912	18306912	T	A	1	0	0	0	0	0	0	0	1	16843	1567	55	4		4	TOP3A	17	18306912	Silent	SNP	T	C3N-00551_TP	492237	18306912	64950529	517	17196											
CCDC144NL	0	.	GRCh38	chr17	20895749	20895749	+	Frame_Shift_Del	DEL	C	C	-																															gctccaccccagggacgtcgCccgaccgggcagctctgtgg																								novel		C3N-00551_TP	C3N-00551_NB	C	C																c.272delG	p.Gly91AlafsTer29	p.G91Afs*29	ENST00000327925	1/4	153	117	36	225	225	0	sindel-varindel-pindel	CCDC144NL,frameshift_variant,p.Gly91AlafsTer29,ENST00000327925,NM_001004306.2;RNU6-1178P,upstream_gene_variant,,ENST00000516674,;CCDC144NL-AS1,intron_variant,,ENST00000577537,;CCDC144NL-AS1,intron_variant,,ENST00000583962,;CCDC144NL-AS1,intron_variant,,ENST00000577860,;CCDC144NL-AS1,intron_variant,,ENST00000582324,;CCDC144NL-AS1,intron_variant,,ENST00000417232,;CCDC144NL-AS1,intron_variant,,ENST00000439794,;	-	ENST00000327925	Transcript	frameshift_variant	392/2806	272/666	91/221	G/X	gGc/gc		1		-1	CCDC144NL	HGNC	HGNC:33735	protein_coding	YES	CCDS32591.1	ENSP00000328054	Q6NUI1		UPI00001D7A84	NM_001004306.2			1/4		hmmpanther:PTHR22245,hmmpanther:PTHR22245:SF1																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	53	20895749	20895749	C	-	1	0	1	0	1	0	0	0	0	2466	739	26	0		0	CCDC144NL	17	20895749	Frame_Shift_Del	DEL	C	C3N-00551_TP	2588837	20895749	62361692	518	17197											
TMEM199	0	.	GRCh38	chr17	28359359	28359359	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaagattaagatacagctGgccaatgaggaatataaacg	18	7	11	5	1	0	4	0	1	0	3	0	6	0	5	1	2	3	1	1	2	8	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.330G>T	p.=	p.L110L	ENST00000292114	3/6	243	218	25	213	213	0	strelka-varscan-mutect	TMEM199,synonymous_variant,p.=,ENST00000292114,NM_152464.2;TMEM199,5_prime_UTR_variant,,ENST00000395404,;POLDIP2,upstream_gene_variant,,ENST00000540200,NM_015584.4;POLDIP2,upstream_gene_variant,,ENST00000618887,NM_001290145.1;CTB-96E2.2,downstream_gene_variant,,ENST00000555059,;SEBOX,downstream_gene_variant,,ENST00000536498,NM_001080837.3;TMEM199,upstream_gene_variant,,ENST00000585070,;CTB-96E2.7,downstream_gene_variant,,ENST00000577850,;CTB-96E2.3,non_coding_transcript_exon_variant,,ENST00000591482,;TMEM199,non_coding_transcript_exon_variant,,ENST00000581386,;SARM1,upstream_gene_variant,,ENST00000379061,;TMEM199,downstream_gene_variant,,ENST00000579762,;TMEM199,synonymous_variant,p.=,ENST00000555264,;TMEM199,3_prime_UTR_variant,,ENST00000580868,;TMEM199,non_coding_transcript_exon_variant,,ENST00000483505,;TMEM199,non_coding_transcript_exon_variant,,ENST00000509083,;TMEM199,upstream_gene_variant,,ENST00000585027,;	T	ENST00000292114	Transcript	synonymous_variant	420/3148	330/627	110/208	L	ctG/ctT		1		1	TMEM199	HGNC	HGNC:18085	protein_coding	YES	CCDS11228.1	ENSP00000292114	Q8N511		UPI0000039EBA	NM_152464.2			3/6		hmmpanther:PTHR31394,hmmpanther:PTHR31394:SF1,Pfam_domain:PF11712																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	28359359	28359359	G	T	1	0	0	0	0	0	0	0	1	16560	1335	47	2		2	TMEM199	17	28359359	Silent	SNP	G	C3N-00551_TP	7463610	28359359	54898082	519	17198											
ASIC2	0	.	GRCh38	chr17	33291705	33291705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaagcgcagcgggttgttGttgcacacagtgacggcggg	7	7	19	8	4	0	1	0	1	0	0	0	2	0	2	0	4	3	5	0	4	1	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.411C>A	p.Asn137Lys	p.N137K	ENST00000225823	1/10	172	124	48	197	197	0	strelka-varscan-mutect	ASIC2,missense_variant,p.Asn137Lys,ENST00000225823,NM_183377.1;ASIC2,intron_variant,,ENST00000359872,NM_001094.4;ASIC2,upstream_gene_variant,,ENST00000448983,;ASIC2,upstream_gene_variant,,ENST00000579816,;	T	ENST00000225823	Transcript	missense_variant	1284/3443	411/1692	137/563	N/K	aaC/aaA		1		-1	ASIC2	HGNC	HGNC:99	protein_coding	YES	CCDS11276.1	ENSP00000225823	Q16515		UPI000013C881	NM_183377.1	deleterious(0)		1/10		hmmpanther:PTHR11690:SF128,hmmpanther:PTHR11690,Gene3D:2qtsA02,Pfam_domain:PF00858,Prints_domain:PR01078																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	33291705	33291705	G	T	1	0	0	0	0	1	0	0	0	1186	1368	48	2		2	ASIC2	17	33291705	Missense_Mutation	SNP	G	C3N-00551_TP	4932346	33291705	49965736	520	17199											
KRT10	0	.	GRCh38	chr17	40820535	40820535	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggttcttcttcagataGgccagctcttcagtcaggct	6	14	10	11	1	6	1	3	0	3	1	7	1	6	1	1	3	1	3	1	3	1	5	rs201038946		C3N-00551_TP	C3N-00551_NB	G	G																c.843C>A	p.=	p.A281A	ENST00000269576	3/8	472	368	104	481	481	0	strelka-varscan-mutect	KRT10,synonymous_variant,p.=,ENST00000269576,NM_000421.3;TMEM99,intron_variant,,ENST00000622451,NM_001195386.1;TMEM99,intron_variant,,ENST00000301665,NM_001195387.1,NM_145274.3;TMEM99,intron_variant,,ENST00000436612,;KRT10,upstream_gene_variant,,ENST00000635956,;TMEM99,intron_variant,,ENST00000496847,;	T	ENST00000269576	Transcript	synonymous_variant	853/2124	843/1755	281/584	A	gcC/gcA	rs201038946	1		-1	KRT10	HGNC	HGNC:6413	protein_coding	YES	CCDS11377.1	ENSP00000269576	P13645		UPI000013D842	NM_000421.3			3/8		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF137,SMART_domains:SM01391,Superfamily_domains:SSF46579																	LOW	1	SNV	1			1										PASS		rs201038946	.												T	2	4	53	40820535	40820535	G	T	1	0	0	0	0	0	0	0	1	8330	987	35	2		2	KRT10	17	40820535	Silent	SNP	G	C3N-00551_TP	7528830	40820535	42436906	521	17200											
EFTUD2	0	.	GRCh38	chr17	44862900	44862900	+	Frame_Shift_Del	DEL	G	G	-																															cttagtagtgtggcacatcaGggggccctggaagaggggac																								novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1420delC	p.Leu474Ter	p.L474*	ENST00000426333	16/28	77	59	18	65	65	0	sindel-varindel-pindel	EFTUD2,frameshift_variant,p.Leu474Ter,ENST00000426333,NM_004247.3;EFTUD2,frameshift_variant,p.Leu474Ter,ENST00000591382,NM_001258353.1;EFTUD2,frameshift_variant,p.Leu464Ter,ENST00000592576,NM_001258354.1;EFTUD2,frameshift_variant,p.Leu439Ter,ENST00000402521,NM_001142605.1;EFTUD2,non_coding_transcript_exon_variant,,ENST00000585616,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000586276,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000590367,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000586654,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000585794,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000587914,;EFTUD2,upstream_gene_variant,,ENST00000590977,;EFTUD2,downstream_gene_variant,,ENST00000591856,;	-	ENST00000426333	Transcript	frameshift_variant	1718/4548	1420/2919	474/972	L/X	Ctg/tg		1		-1	EFTUD2	HGNC	HGNC:30858	protein_coding	YES	CCDS11489.1	ENSP00000392094	Q15029		UPI0000137931	NM_004247.3			16/28		hmmpanther:PTHR23115:SF5,hmmpanther:PTHR23115,Gene3D:2.40.30.10,Superfamily_domains:SSF50447																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	53	44862900	44862900	G	-	1	0	1	0	1	0	0	0	0	4797	991	35	0		0	EFTUD2	17	44862900	Frame_Shift_Del	DEL	G	C3N-00551_TP	4042365	44862900	38394541	522	17201											
KANSL1	0	.	GRCh38	chr17	46172111	46172111	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatggtgtgcttcagctgcTgcgtcagtgagagcgggcgc	6	10	16	9	3	2	1	2	1	0	1	2	2	2	1	0	2	5	3	0	2	1	2	rs769676607		C3N-00551_TP	C3N-00551_NB	T	T																c.33A>T	p.=	p.A11A	ENST00000262419	2/15	197	181	16	161	161	0	strelka-varscan-mutect	KANSL1,synonymous_variant,p.=,ENST00000262419,NM_001193466.1;KANSL1,synonymous_variant,p.=,ENST00000574590,;KANSL1,synonymous_variant,p.=,ENST00000432791,NM_001193465.1;KANSL1,synonymous_variant,p.=,ENST00000572904,NM_015443.3;KANSL1,synonymous_variant,p.=,ENST00000575318,;KANSL1,synonymous_variant,p.=,ENST00000574655,;KANSL1,synonymous_variant,p.=,ENST00000571698,;KANSL1,downstream_gene_variant,,ENST00000576739,;KANSL1,upstream_gene_variant,,ENST00000576248,;KANSL1,upstream_gene_variant,,ENST00000577114,;	A	ENST00000262419	Transcript	synonymous_variant	504/5309	33/3318	11/1105	A	gcA/gcT	rs769676607	1		-1	KANSL1	HGNC	HGNC:24565	protein_coding	YES	CCDS11503.2	ENSP00000262419	Q7Z3B3	A0A024R9Y2	UPI000013D2AE	NM_001193466.1			2/15		Low_complexity_(Seg):seg,hmmpanther:PTHR22443:SF14,hmmpanther:PTHR22443																	LOW	1	SNV	1			1										PASS		rs769676607	.												A	2	1	53	46172111	46172111	T	A	1	0	0	0	0	0	0	0	1	7889	1567	55	4		4	KANSL1	17	46172111	Silent	SNP	T	C3N-00551_TP	1309211	46172111	37085330	523	17202											
HOXB5	0	.	GRCh38	chr17	48593585	48593585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcgggatccctgtaaGagccgctcagagagctgcca	9	6	14	12	2	1	2	1	0	0	2	2	4	2	3	3	2	4	4	3	2	1	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.98C>A	p.Ser33Tyr	p.S33Y	ENST00000239151	1/2	243	209	34	220	220	0	strelka-varscan-mutect	HOXB5,missense_variant,p.Ser33Tyr,ENST00000239151,NM_002147.3;HOXB3,upstream_gene_variant,,ENST00000498678,;HOXB6,downstream_gene_variant,,ENST00000484302,;HOXB3,upstream_gene_variant,,ENST00000472863,;HOXB6,downstream_gene_variant,,ENST00000225648,NM_018952.4;HOXB3,upstream_gene_variant,,ENST00000460160,;HOXB3,upstream_gene_variant,,ENST00000476342,;HOXB-AS3,intron_variant,,ENST00000474040,;HOXB-AS3,intron_variant,,ENST00000476204,;HOXB-AS3,intron_variant,,ENST00000467155,;HOXB-AS3,intron_variant,,ENST00000480872,;HOXB-AS3,intron_variant,,ENST00000429755,;HOXB-AS3,intron_variant,,ENST00000465846,;HOXB-AS3,intron_variant,,ENST00000487849,;HOXB-AS3,intron_variant,,ENST00000492897,;HOXB-AS3,upstream_gene_variant,,ENST00000477144,;HOXB-AS3,upstream_gene_variant,,ENST00000460041,;HOXB-AS3,upstream_gene_variant,,ENST00000481995,;HOXB-AS3,upstream_gene_variant,,ENST00000466037,;HOXB-AS3,upstream_gene_variant,,ENST00000474324,;HOXB3,intron_variant,,ENST00000552000,;HOXB6,downstream_gene_variant,,ENST00000490419,;HOXB6,downstream_gene_variant,,ENST00000470193,;	T	ENST00000239151	Transcript	missense_variant	377/2041	98/810	33/269	S/Y	tCt/tAt		1		-1	HOXB5	HGNC	HGNC:5116	protein_coding	YES	CCDS11530.1	ENSP00000239151	P09067		UPI000012CF58	NM_002147.3	deleterious(0.04)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF165,hmmpanther:PTHR24326																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	48593585	48593585	G	T	1	0	0	0	0	1	0	0	0	7198	942	33	2		2	HOXB5	17	48593585	Missense_Mutation	SNP	G	C3N-00551_TP	2421474	48593585	34663856	524	17203											
DLX4	0	.	GRCh38	chr17	49973098	49973098	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaagccgcggctgtccccGgaaccctccgagcggcgccc	6	3	14	18	6	0	1	0	0	0	1	2	4	2	2	6	3	3	1	6	3	2	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.309G>A	p.=	p.P103P	ENST00000240306	2/3	292	270	22	258	258	0	strelka-varscan-mutect	DLX4,synonymous_variant,p.=,ENST00000240306,NM_138281.2;DLX4,synonymous_variant,p.=,ENST00000611342,;DLX4,synonymous_variant,p.=,ENST00000411890,NM_001934.3;DLX4,non_coding_transcript_exon_variant,,ENST00000503276,;DLX4,non_coding_transcript_exon_variant,,ENST00000503410,;DLX4,downstream_gene_variant,,ENST00000505318,;	A	ENST00000240306	Transcript	synonymous_variant	604/2034	309/723	103/240	P	ccG/ccA		1		1	DLX4	HGNC	HGNC:2917	protein_coding	YES	CCDS11555.1	ENSP00000240306	Q92988		UPI0000070F94	NM_138281.2			2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24327:SF21,hmmpanther:PTHR24327,Gene3D:1.10.10.60																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	49973098	49973098	G	A	1	0	0	0	0	0	0	0	1	4380	1103	39	1		1	DLX4	17	49973098	Silent	SNP	G	C3N-00551_TP	1379513	49973098	33284343	525	17204											
KIF2B	0	.	GRCh38	chr17	53823911	53823911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggtggagtccatcttccGcaagggcatggccacctgct	7	9	12	13	1	1	0	0	0	1	0	3	1	3	1	4	4	1	3	4	4	1	1	rs370500459		C3N-00551_TP	C3N-00551_NB	G	G																c.878G>T	p.Arg293Leu	p.R293L	ENST00000268919	1/1	247	209	38	268	267	1	strelka-varscan-mutect	KIF2B,missense_variant,p.Arg293Leu,ENST00000268919,NM_032559.4;	T	ENST00000268919	Transcript	missense_variant	1011/2313	878/2022	293/673	R/L	cGc/cTc	rs370500459,COSM1212455	1		1	KIF2B	HGNC	HGNC:29443	protein_coding	YES	CCDS32685.1	ENSP00000268919	Q8N4N8	A0A140VKG5	UPI000013D7E6	NM_032559.4	deleterious(0)		1/1		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF524,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540											0,1						MODERATE	1	SNV			0,1	1										PASS		rs370500459	.												T	3	4	53	53823911	53823911	G	T	1	0	0	0	0	1	0	0	0	8163	1087	38	1		1	KIF2B	17	53823911	Missense_Mutation	SNP	G	C3N-00551_TP	3850813	53823911	29433530	526	17205											
RNF43	0	.	GRCh38	chr17	58363284	58363284	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgtgcttacccaggccggGggctccttcagctcaatcct	6	10	11	14	1	2	0	2	0	0	0	4	0	4	0	4	3	3	3	4	3	2	2			C3N-00551_TP	C3N-00551_NB	G	G																c.573C>T	p.=	p.P191P	ENST00000584437	4/9	161	130	31	154	154	0	strelka-varscan-mutect	RNF43,synonymous_variant,p.=,ENST00000584437,;RNF43,synonymous_variant,p.=,ENST00000407977,;RNF43,synonymous_variant,p.=,ENST00000577716,NM_017763.4;RNF43,synonymous_variant,p.=,ENST00000583753,;RNF43,synonymous_variant,p.=,ENST00000581868,;RNF43,synonymous_variant,p.=,ENST00000577625,;TSPOAP1-AS1,intron_variant,,ENST00000583841,;RNF43,non_coding_transcript_exon_variant,,ENST00000582293,;	A	ENST00000584437	Transcript	synonymous_variant	2529/5575	573/2352	191/783	P	ccC/ccT	COSM981866	1		-1	RNF43	HGNC	HGNC:18505	protein_coding	YES	CCDS11607.1	ENSP00000463069	Q68DV7		UPI000022A469				4/9		hmmpanther:PTHR16200,hmmpanther:PTHR16200:SF2											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	53	58363284	58363284	G	A	1	0	0	0	0	0	0	0	1	13675	1219	43	3		3	RNF43	17	58363284	Silent	SNP	G	C3N-00551_TP	4539373	58363284	24894157	527	17206											
TANC2	0	.	GRCh38	chr17	63415566	63415566	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccagcgctaccagtaCgccctgaagaagttccctag	9	7	10	15	2	0	2	0	1	0	1	1	2	1	2	4	0	4	4	4	0	5	4	rs191181540		C3N-00551_TP	C3N-00551_NB	C	C																c.3807C>T	p.=	p.Y1269Y	ENST00000424789	23/25	255	228	27	263	263	0	strelka-varscan-mutect	TANC2,synonymous_variant,p.=,ENST00000424789,NM_025185.3;TANC2,synonymous_variant,p.=,ENST00000583356,;TANC2,synonymous_variant,p.=,ENST00000389520,;TANC2,synonymous_variant,p.=,ENST00000613171,;RP11-269G24.3,intron_variant,,ENST00000583552,;AC015923.1,upstream_gene_variant,,ENST00000431604,;TANC2,non_coding_transcript_exon_variant,,ENST00000579541,;	T	ENST00000424789	Transcript	synonymous_variant	3811/11721	3807/5973	1269/1990	Y	taC/taT	rs191181540,COSM706511,COSM706512	1		1	TANC2	HGNC	HGNC:30212	protein_coding	YES	CCDS45754.1	ENSP00000387593	Q9HCD6		UPI00015D57DF	NM_025185.3			23/25		Gene3D:1.25.40.10,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF21,SMART_domains:SM00028,Superfamily_domains:SSF48452											0,1,1						LOW	1	SNV	2		0,1,1	1										PASS		rs191181540	.												T	2	4	53	63415566	63415566	C	T	1	0	0	0	0	0	0	0	1	15942	547	19	1		1	TANC2	17	63415566	Silent	SNP	C	C3N-00551_TP	5052282	63415566	19841875	528	17207											
ABCA5	0	.	GRCh38	chr17	69286025	69286025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctgtggcacaatatttGtctatgtacatgctagagaa	12	14	9	6	0	2	1	0	0	2	1	2	3	2	1	0	1	2	3	0	1	6	6	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2145C>G	p.Asp715Glu	p.D715E	ENST00000392676	17/39	97	84	13	110	110	0	strelka-varscan-mutect	ABCA5,missense_variant,p.Asp715Glu,ENST00000392676,NM_172232.3;ABCA5,missense_variant,p.Asp715Glu,ENST00000588877,NM_018672.4;ABCA5,missense_variant,p.Asp715Glu,ENST00000593153,;ABCA5,missense_variant,p.Asp386Glu,ENST00000586995,;ABCA5,missense_variant,p.Asp18Glu,ENST00000591234,;	C	ENST00000392676	Transcript	missense_variant	2210/8220	2145/4929	715/1642	D/E	gaC/gaG		1		-1	ABCA5	HGNC	HGNC:35	protein_coding	YES	CCDS11685.1	ENSP00000376443	Q8WWZ7		UPI000013DD9E	NM_172232.3	tolerated(0.12)		17/39		hmmpanther:PTHR19229:SF100,hmmpanther:PTHR19229																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	69286025	69286025	G	C	1	0	0	0	0	1	0	0	0	39	1368	48	4		4	ABCA5	17	69286025	Missense_Mutation	SNP	G	C3N-00551_TP	5870459	69286025	13971416	529	17208											
DNAI2	0	.	GRCh38	chr17	74289728	74289728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcgattcatacatctGggacctgggtgagaagcagc	11	7	14	9	1	2	1	1	1	1	1	2	5	2	2	1	2	5	2	1	2	2	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.602G>T	p.Trp201Leu	p.W201L	ENST00000446837	4/13	274	238	36	256	256	0	strelka-varscan-mutect	DNAI2,missense_variant,p.Trp258Leu,ENST00000579490,;DNAI2,missense_variant,p.Trp201Leu,ENST00000446837,;DNAI2,missense_variant,p.Trp201Leu,ENST00000582036,NM_001172810.1;DNAI2,missense_variant,p.Trp201Leu,ENST00000311014,NM_023036.4;DNAI2,synonymous_variant,p.=,ENST00000579055,;	T	ENST00000446837	Transcript	missense_variant	908/2474	602/1818	201/605	W/L	tGg/tTg		1		1	DNAI2	HGNC	HGNC:18744	protein_coding	YES	CCDS11697.1	ENSP00000400252	Q9GZS0		UPI000013EC1D		deleterious(0)		4/13		PROSITE_profiles:PS50294,hmmpanther:PTHR12442:SF7,hmmpanther:PTHR12442,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	74289728	74289728	G	T	1	0	0	0	0	1	0	0	0	4425	1357	47	2		2	DNAI2	17	74289728	Missense_Mutation	SNP	G	C3N-00551_TP	5003703	74289728	8967713	530	17209											
BTBD17	0	.	GRCh38	chr17	74357250	74357250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcagcaggaggtcggccaCcgcggggccgtggcgcgcca	5	3	18	15	6	0	0	0	0	0	0	1	1	0	1	4	6	2	2	4	6	0	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.844G>A	p.Val282Met	p.V282M	ENST00000375366	3/3	164	108	56	208	208	0	strelka-varscan-mutect	BTBD17,missense_variant,p.Val282Met,ENST00000375366,NM_001080466.1;KIF19,downstream_gene_variant,,ENST00000389916,NM_153209.3;KIF19,downstream_gene_variant,,ENST00000551294,;	T	ENST00000375366	Transcript	missense_variant	971/1805	844/1437	282/478	V/M	Gtg/Atg		1		-1	BTBD17	HGNC	HGNC:33758	protein_coding	YES	CCDS32719.1	ENSP00000364515	A6NE02		UPI00001D7961	NM_001080466.1	deleterious(0.02)		3/3		hmmpanther:PTHR24410:SF12,hmmpanther:PTHR24410																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	53	74357250	74357250	C	T	1	0	0	0	0	1	0	0	0	1716	507	18	3		3	BTBD17	17	74357250	Missense_Mutation	SNP	C	C3N-00551_TP	67522	74357250	8900191	531	17210											
BTBD17	0	.	GRCh38	chr17	74360114	74360114	+	Missense_Mutation	SNP	C	C	A																															tacccggacctcatcggtgcCcgcagcctgcacccgcagaa																								novel		C3N-00551_TP	C3N-00551_NB	C	C																c.217G>T	p.Gly73Cys	p.G73C	ENST00000375366	2/3	369	302	67	305	305	0	strelka-varscan-mutect	BTBD17,missense_variant,p.Gly73Cys,ENST00000375366,NM_001080466.1;KIF19,downstream_gene_variant,,ENST00000389916,NM_153209.3;	A	ENST00000375366	Transcript	missense_variant	344/1805	217/1437	73/478	G/C	Ggc/Tgc		1		-1	BTBD17	HGNC	HGNC:33758	protein_coding	YES	CCDS32719.1	ENSP00000364515	A6NE02		UPI00001D7961	NM_001080466.1	deleterious(0.04)		2/3		PROSITE_profiles:PS50097,hmmpanther:PTHR24410:SF12,hmmpanther:PTHR24410,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	53	74360114	74360114	C	A	1	0	0	0	0	1	0	0	0	1716	623	22	2		2	BTBD17	17	74360114	Missense_Mutation	SNP	C	C3N-00551_TP	2864	74360114	8897327	532	17211	370	2									
BTBD17	0	.	GRCh38	chr17	74360115	74360115	+	Silent	SNP	C	C	A																															acccggacctcatcggtgccCgcagcctgcacccgcagaac																								rs766568463		C3N-00551_TP	C3N-00551_NB	C	C																c.216G>T	p.=	p.A72A	ENST00000375366	2/3	363	300	63	304	304	0	strelka-varscan-mutect	BTBD17,synonymous_variant,p.=,ENST00000375366,NM_001080466.1;KIF19,downstream_gene_variant,,ENST00000389916,NM_153209.3;	A	ENST00000375366	Transcript	synonymous_variant	343/1805	216/1437	72/478	A	gcG/gcT	rs766568463,COSM3692023	1		-1	BTBD17	HGNC	HGNC:33758	protein_coding	YES	CCDS32719.1	ENSP00000364515	A6NE02		UPI00001D7961	NM_001080466.1			2/3		PROSITE_profiles:PS50097,hmmpanther:PTHR24410:SF12,hmmpanther:PTHR24410,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695											0,1						LOW	1	SNV	2		0,1	1										PASS		rs766568463	.												A	2	1	53	74360115	74360115	C	A	1	0	0	0	0	0	0	0	1	1716	639	23	1		1	BTBD17	17	74360115	Silent	SNP	C	C3N-00551_TP	1	74360115	8897326	533	17212	370	2									
GPR142	0	.	GRCh38	chr17	74371865	74371865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcgggcttcctcctgcaGggagcagtgctggcccgcca	4	8	14	15	3	0	0	0	0	0	0	3	1	2	1	4	3	3	4	4	3	0	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.654G>T	p.Gln218His	p.Q218H	ENST00000335666	4/4	250	223	27	188	188	0	strelka-varscan-mutect	GPR142,missense_variant,p.Gln218His,ENST00000335666,NM_181790.1;GPR142,3_prime_UTR_variant,,ENST00000582579,;GPR142,downstream_gene_variant,,ENST00000585308,;	T	ENST00000335666	Transcript	missense_variant	702/1437	654/1389	218/462	Q/H	caG/caT		1		1	GPR142	HGNC	HGNC:20088	protein_coding	YES	CCDS11698.1	ENSP00000335158	Q7Z601		UPI00001AA7F1	NM_181790.1	deleterious(0.03)		4/4		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR22751,hmmpanther:PTHR22751:SF48,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	74371865	74371865	G	T	1	0	0	0	0	1	0	0	0	6536	991	35	2		2	GPR142	17	74371865	Missense_Mutation	SNP	G	C3N-00551_TP	11750	74371865	8885576	534	17213											
UBE2O	0	.	GRCh38	chr17	76402075	76402075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacactaccgagtcgctgaCgtgcgggcagacgtcgtaga	9	6	14	12	6	0	3	0	1	0	2	2	4	0	3	1	1	2	4	1	1	2	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.739G>T	p.Val247Phe	p.V247F	ENST00000319380	5/18	151	133	18	182	182	0	strelka-varscan-mutect	UBE2O,missense_variant,p.Val247Phe,ENST00000319380,NM_022066.3;UBE2O,missense_variant,p.Val32Phe,ENST00000590658,;UBE2O,upstream_gene_variant,,ENST00000587127,;UBE2O,upstream_gene_variant,,ENST00000587581,;UBE2O,non_coding_transcript_exon_variant,,ENST00000586409,;UBE2O,non_coding_transcript_exon_variant,,ENST00000586505,;	A	ENST00000319380	Transcript	missense_variant	804/5436	739/3879	247/1292	V/F	Gtc/Ttc		1		-1	UBE2O	HGNC	HGNC:29554	protein_coding	YES	CCDS32742.1	ENSP00000323687	Q9C0C9		UPI000020032F	NM_022066.3	deleterious(0.01)		5/18																			MODERATE	1	SNV	1			1										PASS		rs1257815392	.												A	3	1	53	76402075	76402075	C	A	1	0	0	0	0	1	0	0	0	17389	536	19	1		1	UBE2O	17	76402075	Missense_Mutation	SNP	C	C3N-00551_TP	2030210	76402075	6855366	535	17214											
TNRC6C	0	.	GRCh38	chr17	78051078	78051078	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactgggctagcaaaccccaAgacaacaatgtgagtaactg	16	6	9	10	0	0	2	0	1	0	1	0	2	0	2	2	1	5	3	2	1	7	2	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.2016A>G	p.=	p.Q672Q	ENST00000335749	3/21	55	50	5	55	55	0	strelka-varscan-mutect	TNRC6C,synonymous_variant,p.=,ENST00000335749,NM_001142640.1;TNRC6C,synonymous_variant,p.=,ENST00000301624,NM_018996.3;TNRC6C,synonymous_variant,p.=,ENST00000588847,;TNRC6C,synonymous_variant,p.=,ENST00000588061,;TNRC6C,synonymous_variant,p.=,ENST00000636222,;TNRC6C,intron_variant,,ENST00000585438,;TNRC6C,downstream_gene_variant,,ENST00000588549,;TNRC6C,non_coding_transcript_exon_variant,,ENST00000591851,;	G	ENST00000335749	Transcript	synonymous_variant	2585/9740	2016/5181	672/1726	Q	caA/caG		1		1	TNRC6C	HGNC	HGNC:29318	protein_coding	YES	CCDS45799.1	ENSP00000336783	Q9HCJ0		UPI0000EE5F80	NM_001142640.1			3/21		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF9																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	53	78051078	78051078	A	G	1	0	0	0	0	0	0	0	1	16815	69	3	5		5	TNRC6C	17	78051078	Silent	SNP	A	C3N-00551_TP	1649003	78051078	5206363	536	17215											
CEP131	0	.	GRCh38	chr17	81199428	81199428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggcagtgccgcctggtgtgGgggacagctcctgagcaggc	5	6	19	11	1	0	1	0	1	0	0	1	2	1	2	3	5	3	3	3	5	0	0	rs573986931		C3N-00551_TP	C3N-00551_NB	G	G																c.1145C>A	p.Pro382His	p.P382H	ENST00000450824	10/26	214	188	26	218	218	0	strelka-varscan-mutect	CEP131,missense_variant,p.Pro382His,ENST00000269392,NM_001319228.1;CEP131,missense_variant,p.Pro382His,ENST00000450824,NM_014984.2;CEP131,missense_variant,p.Pro382His,ENST00000374782,NM_001319229.1,NM_001009811.2;CEP131,missense_variant,p.Pro382His,ENST00000575907,;CEP131,upstream_gene_variant,,ENST00000573053,;RP11-455O6.2,intron_variant,,ENST00000571085,;CEP131,downstream_gene_variant,,ENST00000570482,;	T	ENST00000450824	Transcript	missense_variant	1324/3543	1145/3243	382/1080	P/H	cCc/cAc	rs573986931	1		-1	CEP131	HGNC	HGNC:29511	protein_coding	YES	CCDS45808.1	ENSP00000393583	Q9UPN4		UPI00002017B6	NM_014984.2	tolerated(0.12)		10/26		hmmpanther:PTHR31540,hmmpanther:PTHR31540:SF1																	MODERATE	1	SNV	1			1										PASS		rs573986931	.												T	3	4	53	81199428	81199428	G	T	1	0	0	0	0	1	0	0	0	2959	1232	43	2		2	CEP131	17	81199428	Missense_Mutation	SNP	G	C3N-00551_TP	3148350	81199428	2058013	537	17216											
FAAP100	0	.	GRCh38	chr17	81547972	81547972	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggggacctaggctaatctgCcaggtatgagaagcgcacca	11	6	13	11	2	1	1	0	1	1	1	1	3	1	2	3	4	2	3	3	4	4	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.57G>T	p.Trp19Cys	p.W19C	ENST00000425898	1/5	180	150	30	155	155	0	strelka-varscan-mutect	FAAP100,missense_variant,p.Trp19Cys,ENST00000425898,;FAAP100,intron_variant,,ENST00000327787,NM_025161.5;FAAP100,downstream_gene_variant,,ENST00000541246,;FAAP100,downstream_gene_variant,,ENST00000544302,;FAAP100,downstream_gene_variant,,ENST00000536161,;FAAP100,intron_variant,,ENST00000443656,;FAAP100,upstream_gene_variant,,ENST00000545865,;	A	ENST00000425898	Transcript	missense_variant	527/2996	57/1593	19/530	W/C	tgG/tgT		1		-1	FAAP100	HGNC	HGNC:26171	protein_coding			ENSP00000399674		E7EVV8	UPI0001AE66C4				1/5																			MODERATE		SNV	1			1										PASS		rs1159837642	.												A	3	1	53	81547972	81547972	C	A	1	0	0	0	0	1	0	0	0	5224	740	26	2		2	FAAP100	17	81547972	Missense_Mutation	SNP	C	C3N-00551_TP	348544	81547972	1709469	538	17217											
FASN	0	.	GRCh38	chr17	82091577	82091577	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccacggacgggcaggggCtggtccaccacctgcagccg	6	3	15	17	4	0	0	0	0	0	0	1	1	1	1	6	5	2	3	6	5	0	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1137G>T	p.Gln379His	p.Q379H	ENST00000306749	9/43	374	282	92	319	319	0	strelka-varscan-mutect	FASN,missense_variant,p.Gln379His,ENST00000306749,NM_004104.4;FASN,missense_variant,p.Gln379His,ENST00000634990,;FASN,downstream_gene_variant,,ENST00000635197,;FASN,downstream_gene_variant,,ENST00000636968,;FASN,downstream_gene_variant,,ENST00000637026,;FASN,downstream_gene_variant,,ENST00000637525,;FASN,downstream_gene_variant,,ENST00000635733,;	A	ENST00000306749	Transcript	missense_variant	1356/8565	1137/7536	379/2511	Q/H	caG/caT		1		-1	FASN	HGNC	HGNC:3594	protein_coding	YES	CCDS11801.1	ENSP00000304592	P49327		UPI000013EB82	NM_004104.4	deleterious(0.01)		9/43		Gene3D:3.40.47.10,Pfam_domain:PF16197,hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF280,SMART_domains:SM00825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	82091577	82091577	C	A	1	0	0	0	0	1	0	0	0	5543	796	28	2		2	FASN	17	82091577	Missense_Mutation	SNP	C	C3N-00551_TP	543605	82091577	1165864	539	17218											
PIEZO2	0	.	GRCh38	chr18	10773552	10773552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggctcagccaacttcCtcacctccggcttctccagg	6	8	7	20	1	3	0	2	0	1	0	6	0	5	0	7	3	2	2	7	3	1	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2570G>T	p.Arg857Met	p.R857M	ENST00000503781	18/52	414	363	51	495	495	0	strelka-varscan-mutect	PIEZO2,missense_variant,p.Arg806Met,ENST00000383408,;PIEZO2,missense_variant,p.Arg857Met,ENST00000302079,;PIEZO2,missense_variant,p.Arg882Met,ENST00000580640,;PIEZO2,missense_variant,p.Arg857Met,ENST00000503781,NM_022068.3;PIEZO2,missense_variant,p.Arg186Met,ENST00000583325,;PIEZO2,missense_variant,p.Arg871Met,ENST00000582913,;PIEZO2,non_coding_transcript_exon_variant,,ENST00000578145,;	A	ENST00000503781	Transcript	missense_variant	2570/8259	2570/8259	857/2752	R/M	aGg/aTg		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3	deleterious(0.02)		18/52																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	10773552	10773552	C	A	1	0	0	0	0	1	0	0	0	11975	681	24	2		2	PIEZO2	18	10773552	Missense_Mutation	SNP	C	C3N-00551_TP		10773552	69599733	540	17219											
SEH1L	0	.	GRCh38	chr18	12963259	12963259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcaacctgttccgcagatGgtatagtaagaatctatgag	13	11	10	7	1	1	3	0	1	1	2	2	3	2	3	2	1	2	5	2	1	7	6	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.409G>T	p.Gly137Cys	p.G137C	ENST00000399892	4/9	313	273	40	370	370	0	strelka-varscan-mutect	SEH1L,missense_variant,p.Gly137Cys,ENST00000262124,NM_031216.3;SEH1L,missense_variant,p.Gly137Cys,ENST00000399892,NM_001013437.1;SEH1L,missense_variant,p.Gly137Cys,ENST00000587761,;SEH1L,missense_variant,p.Gly120Cys,ENST00000589446,;SEH1L,missense_variant,p.Gly88Cys,ENST00000585730,;SEH1L,non_coding_transcript_exon_variant,,ENST00000588251,;	T	ENST00000399892	Transcript	missense_variant	510/1846	409/1266	137/421	G/C	Ggt/Tgt		1		1	SEH1L	HGNC	HGNC:30379	protein_coding	YES	CCDS32791.1	ENSP00000382779	Q96EE3		UPI0000070285	NM_001013437.1	deleterious(0.02)		4/9		PROSITE_profiles:PS50294,hmmpanther:PTHR11024,hmmpanther:PTHR11024:SF3,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		rs1380810925	.												T	3	4	53	12963259	12963259	G	T	1	0	0	0	0	1	0	0	0	14286	1348	47	2		2	SEH1L	18	12963259	Missense_Mutation	SNP	G	C3N-00551_TP	2189707	12963259	67410026	541	17220											
DSG1	0	.	GRCh38	chr18	31343965	31343965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaaataccacctgataacGcaaatataattgaatgcatt	18	10	4	9	1	0	2	0	2	0	0	0	2	0	2	2	0	3	2	2	0	7	6	rs398122400		C3N-00551_TP	C3N-00551_NB	G	G																c.1861G>A	p.Ala621Thr	p.A621T	ENST00000257192	13/15	251	234	17	304	304	0	strelka-varscan-mutect	DSG1,missense_variant,p.Ala621Thr,ENST00000257192,NM_001942.3;DSG1,5_prime_UTR_variant,,ENST00000462981,;RNU6-167P,downstream_gene_variant,,ENST00000384292,;DSG1-AS1,intron_variant,,ENST00000581856,;DSG1-AS1,intron_variant,,ENST00000578119,;DSG1-AS1,downstream_gene_variant,,ENST00000578477,;	A	ENST00000257192	Transcript	missense_variant	2073/5045	1861/3150	621/1049	A/T	Gca/Aca	rs398122400,COSM4751823	1		1	DSG1	HGNC	HGNC:3048	protein_coding	YES	CCDS11896.1	ENSP00000257192	Q02413		UPI000013CF4C	NM_001942.3	tolerated(0.16)		13/15		hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF9										pathogenic	0,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1361944257	.												A	3	1	53	31343965	31343965	G	A	1	0	0	0	0	1	0	0	0	4597	1087	38	1		1	DSG1	18	31343965	Missense_Mutation	SNP	G	C3N-00551_TP	18380706	31343965	49029320	542	17221											
DSG4	0	.	GRCh38	chr18	31399290	31399290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgctggattatgaacaaGcacctaacattcagcttagt	14	11	8	8	0	1	2	1	1	0	1	1	3	1	3	1	1	5	3	1	1	5	4			C3N-00551_TP	C3N-00551_NB	G	G																c.1024G>T	p.Ala342Ser	p.A342S	ENST00000359747	9/15	199	168	31	260	260	0	strelka-varscan-mutect	DSG4,missense_variant,p.Ala342Ser,ENST00000359747,NM_001134453.1;DSG4,missense_variant,p.Ala342Ser,ENST00000308128,NM_177986.3;DSG1-AS1,intron_variant,,ENST00000581856,;DSG1-AS1,intron_variant,,ENST00000578477,;DSG1-AS1,intron_variant,,ENST00000581452,;	T	ENST00000359747	Transcript	missense_variant	1053/4526	1024/3180	342/1059	A/S	Gca/Tca	COSM708113,COSM708114	1		1	DSG4	HGNC	HGNC:21307	protein_coding	YES	CCDS45845.1	ENSP00000352785	Q86SJ6		UPI000035DB4E	NM_001134453.1	deleterious(0.02)		9/15		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF10,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	53	31399290	31399290	G	T	1	0	0	0	0	1	0	0	0	4600	971	34	2		2	DSG4	18	31399290	Missense_Mutation	SNP	G	C3N-00551_TP	55325	31399290	48973995	543	17222											
RIT2	0	.	GRCh38	chr18	43115431	43115431	+	Frame_Shift_Del	DEL	C	C	-																															acttaccgcttttaccaactCcccctgctcccagcattacc																								novel		C3N-00551_TP	C3N-00551_NB	C	C																c.89delG	p.Gly30GlufsTer7	p.G30Efs*7	ENST00000326695	1/5	93	75	18	216	216	0	sindel-varindel	RIT2,frameshift_variant,p.Gly30GlufsTer7,ENST00000589109,NM_001272077.1;RIT2,frameshift_variant,p.Gly30GlufsTer7,ENST00000326695,NM_002930.3;RIT2,frameshift_variant,p.Gly30GlufsTer7,ENST00000590910,;	-	ENST00000326695	Transcript	frameshift_variant	261/1092	89/654	30/217	G/X	gGa/ga		1		-1	RIT2	HGNC	HGNC:10017	protein_coding	YES	CCDS11921.1	ENSP00000321805	Q99578		UPI0000073E97	NM_002930.3			1/5		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF203,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	53	43115431	43115431	C	-	1	0	1	0	1	0	0	0	0	13562	855	30	0		0	RIT2	18	43115431	Frame_Shift_Del	DEL	C	C3N-00551_TP	11716141	43115431	37257854	544	17223	371	2									
RIT2	0	.	GRCh38	chr18	43115433	43115433	+	Silent	SNP	C	C	A																															ttaccgcttttaccaactccCcctgctcccagcattaccac																								novel		C3N-00551_TP	C3N-00551_NB	C	C																c.87G>T	p.=	p.G29G	ENST00000326695	1/5	96	79	17	221	221	0	strelka-mutect	RIT2,synonymous_variant,p.=,ENST00000589109,NM_001272077.1;RIT2,synonymous_variant,p.=,ENST00000326695,NM_002930.3;RIT2,synonymous_variant,p.=,ENST00000590910,;	A	ENST00000326695	Transcript	synonymous_variant	259/1092	87/654	29/217	G	ggG/ggT		1		-1	RIT2	HGNC	HGNC:10017	protein_coding	YES	CCDS11921.1	ENSP00000321805	Q99578		UPI0000073E97	NM_002930.3			1/5		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF203,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231																	LOW	1	SNV	1			1										PASS		rs1379722669	.												A	2	1	53	43115433	43115433	C	A	1	0	0	0	0	0	0	0	1	13562	610	22	2		2	RIT2	18	43115433	Silent	SNP	C	C3N-00551_TP	2	43115433	37257852	545	17224	371	2									
ST8SIA5	0	.	GRCh38	chr18	46756449	46756449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggcgcagatgaagatGaagagcaaagttcggctccc	14	5	13	9	2	0	5	0	2	0	3	2	5	1	5	1	2	1	5	1	2	4	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.60C>A	p.Phe20Leu	p.F20L	ENST00000538168	1/8	313	270	43	364	363	1	strelka-varscan-mutect	ST8SIA5,missense_variant,p.Phe20Leu,ENST00000538168,NM_001307986.1;ST8SIA5,missense_variant,p.Phe20Leu,ENST00000315087,NM_013305.4;ST8SIA5,missense_variant,p.Phe20Leu,ENST00000536490,NM_001307987.1;RP11-742D12.2,upstream_gene_variant,,ENST00000602333,;RP11-742D12.2,upstream_gene_variant,,ENST00000602329,;RP11-742D12.2,upstream_gene_variant,,ENST00000624895,;ST8SIA5,non_coding_transcript_exon_variant,,ENST00000588155,;ST8SIA5,intron_variant,,ENST00000590488,;ST8SIA5,intron_variant,,ENST00000591375,;	T	ENST00000538168	Transcript	missense_variant	361/13761	60/1239	20/412	F/L	ttC/ttA		1		-1	ST8SIA5	HGNC	HGNC:17827	protein_coding	YES	CCDS77184.1	ENSP00000445492	O15466		UPI0000E03E3B	NM_001307986.1			1/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR11987:SF4,hmmpanther:PTHR11987,PIRSF_domain:PIRSF005557																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	53	46756449	46756449	G	T	1	0	0	0	0	1	0	0	0	15613	1281	45	2		2	ST8SIA5	18	46756449	Missense_Mutation	SNP	G	C3N-00551_TP	3641016	46756449	33616836	546	17225											
DYM	0	.	GRCh38	chr18	49272247	49272247	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatattataagggccatataCacatggtgtgaattcctttc	13	14	7	7	0	0	1	0	1	0	0	2	1	1	1	2	2	1	0	2	2	7	7	rs866648614		C3N-00551_TP	C3N-00551_NB	C	C																c.1182G>T	p.=	p.V394V	ENST00000269445	11/17	168	149	19	196	196	0	strelka-varscan-mutect	DYM,synonymous_variant,p.=,ENST00000269445,NM_017653.3;DYM,synonymous_variant,p.=,ENST00000442713,;	A	ENST00000269445	Transcript	synonymous_variant	1640/5049	1182/2010	394/669	V	gtG/gtT	rs866648614	1		-1	DYM	HGNC	HGNC:21317	protein_coding	YES	CCDS11937.1	ENSP00000269445	Q7RTS9		UPI00001AE953	NM_017653.3			11/17		hmmpanther:PTHR12895:SF9,hmmpanther:PTHR12895,Pfam_domain:PF09742																	LOW	1	SNV	1			1										PASS		rs866648614	.												A	2	1	53	49272247	49272247	C	A	1	0	0	0	0	0	0	0	1	4663	465	17	2		2	DYM	18	49272247	Silent	SNP	C	C3N-00551_TP	2515798	49272247	31101038	547	17226											
MYO5B	0	.	GRCh38	chr18	49974584	49974584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctccacccctagcagtCggcagaagttgcttaggtat	8	11	11	11	1	0	1	0	0	0	1	2	1	1	1	3	2	3	6	3	2	4	4	rs369568383		C3N-00551_TP	C3N-00551_NB	C	C																c.1088G>T	p.Arg363Leu	p.R363L	ENST00000285039	10/40	158	136	22	166	166	0	strelka-varscan-mutect	MYO5B,missense_variant,p.Arg363Leu,ENST00000285039,NM_001080467.2;RP11-813F20.4,upstream_gene_variant,,ENST00000591362,;	A	ENST00000285039	Transcript	missense_variant	1388/9505	1088/5547	363/1848	R/L	cGa/cTa	rs369568383	1		-1	MYO5B	HGNC	HGNC:7603	protein_coding	YES	CCDS42436.1	ENSP00000285039	Q9ULV0		UPI00001D7B21	NM_001080467.2	deleterious(0.02)		10/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs369568383	.												A	3	1	53	49974584	49974584	C	A	1	0	0	0	0	1	0	0	0	10080	884	31	1		1	MYO5B	18	49974584	Missense_Mutation	SNP	C	C3N-00551_TP	702337	49974584	30398701	548	17227											
SERPINB13	0	.	GRCh38	chr18	63597256	63597256	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataggctttactgtcacaTccgccccaggtcatgaaaat	11	10	8	12	1	2	1	2	1	0	0	3	1	3	1	3	2	1	2	3	2	4	3	rs771813572		C3N-00551_TP	C3N-00551_NB	T	T																c.1096T>A	p.Ser366Thr	p.S366T	ENST00000269489	8/8	185	159	26	257	257	0	strelka-varscan-mutect	SERPINB13,missense_variant,p.Ser366Thr,ENST00000269489,NM_001307923.1;SERPINB13,missense_variant,p.Ser357Thr,ENST00000344731,NM_012397.3;SERPINB13,intron_variant,,ENST00000415733,;SERPINB13,downstream_gene_variant,,ENST00000431153,;SERPINB13,3_prime_UTR_variant,,ENST00000438844,;	A	ENST00000269489	Transcript	missense_variant	1264/3206	1096/1203	366/400	S/T	Tcc/Acc	rs771813572	1		1	SERPINB13	HGNC	HGNC:8944	protein_coding	YES	CCDS77195.1	ENSP00000269489		A0A0A0MQW3	UPI000004EE0A	NM_001307923.1	tolerated(0.1)		8/8		Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF161,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		rs771813572	.												A	3	1	53	63597256	63597256	T	A	1	0	0	0	0	1	0	0	0	14376	1435	50	4		4	SERPINB13	18	63597256	Missense_Mutation	SNP	T	C3N-00551_TP	13622672	63597256	16776029	549	17228											
CCDC102B	0	.	GRCh38	chr18	68837088	68837088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagagaaaaatggagtaaaGttcgagctgaaaggaacagt	18	6	14	3	1	0	2	0	1	0	1	1	7	0	5	0	3	2	3	0	3	6	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.325G>T	p.Val109Phe	p.V109F	ENST00000360242	2/8	310	264	46	361	361	0	strelka-varscan-mutect	CCDC102B,missense_variant,p.Val109Phe,ENST00000360242,NM_001093729.1,NM_024781.2;CCDC102B,missense_variant,p.Val109Phe,ENST00000584156,;CCDC102B,missense_variant,p.Val109Phe,ENST00000584775,;CCDC102B,missense_variant,p.Val109Phe,ENST00000582371,;CCDC102B,missense_variant,p.Val109Phe,ENST00000581520,;CCDC102B,upstream_gene_variant,,ENST00000358653,;CCDC102B,downstream_gene_variant,,ENST00000578970,;CCDC102B,non_coding_transcript_exon_variant,,ENST00000577772,;	T	ENST00000360242	Transcript	missense_variant	442/2711	325/1542	109/513	V/F	Gtt/Ttt		1		1	CCDC102B	HGNC	HGNC:26295	protein_coding	YES	CCDS11996.2	ENSP00000353377	Q68D86		UPI0000201E87	NM_001093729.1,NM_024781.2	deleterious(0)		2/8		hmmpanther:PTHR13140:SF479,hmmpanther:PTHR13140																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	68837088	68837088	G	T	1	0	0	0	0	1	0	0	0	2435	1029	36	2		2	CCDC102B	18	68837088	Missense_Mutation	SNP	G	C3N-00551_TP	5239832	68837088	11536197	550	17229											
SALL3	0	.	GRCh38	chr18	78993822	78993822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaacgccagggccggggacGctcccgtgggcgcgcaggct	5	3	17	16	6	0	0	0	0	0	0	1	1	1	1	4	5	1	3	4	5	1	0			C3N-00551_TP	C3N-00551_NB	G	G																c.1831G>T	p.Ala611Ser	p.A611S	ENST00000537592	2/3	61	56	5	82	82	0	strelka-varscan-mutect	SALL3,missense_variant,p.Ala611Ser,ENST00000537592,NM_171999.3;SALL3,missense_variant,p.Ala478Ser,ENST00000536229,;SALL3,missense_variant,p.Ala611Ser,ENST00000575389,;SALL3,missense_variant,p.Ala343Ser,ENST00000616649,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	T	ENST00000537592	Transcript	missense_variant	1831/6555	1831/3903	611/1300	A/S	Gct/Tct	COSM1611428	1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3	tolerated(0.94)		2/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46											1						MODERATE	1	SNV	5		1	1										PASS		rs1184749893	.												T	3	4	53	78993822	78993822	G	T	1	0	0	0	0	1	0	0	0	14071	1087	38	1		1	SALL3	18	78993822	Missense_Mutation	SNP	G	C3N-00551_TP	10156734	78993822	1379463	551	17230											
ZNRF4	0	.	GRCh38	chr19	5455727	5455727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggccacggccgggccgagCcctcgtggcagtcaaagcct	6	5	15	15	4	1	0	1	0	0	0	2	1	1	0	5	4	2	1	5	4	1	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.236C>A	p.Ala79Asp	p.A79D	ENST00000222033	1/1	133	99	34	107	107	0	strelka-varscan-mutect	ZNRF4,missense_variant,p.Ala79Asp,ENST00000222033,NM_181710.3;	A	ENST00000222033	Transcript	missense_variant	297/1426	236/1290	79/429	A/D	gCc/gAc		1		1	ZNRF4	HGNC	HGNC:17726	protein_coding	YES	CCDS42475.1	ENSP00000222033	Q8WWF5		UPI0000366CF5	NM_181710.3	deleterious(0)		1/1		hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF49,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	53	5455727	5455727	C	A	1	0	0	0	0	1	0	0	0	18806	739	26	2		2	ZNRF4	19	5455727	Missense_Mutation	SNP	C	C3N-00551_TP		5455727	53161889	552	17231											
MUC16	0	.	GRCh38	chr19	8948272	8948272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctttagaagcggccaGactctcatctgaggtgatat	9	11	13	8	1	2	4	1	2	2	2	3	4	2	4	1	4	1	1	1	4	3	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.28498C>A	p.Leu9500Met	p.L9500M	ENST00000397910	3/84	138	102	36	124	124	0	strelka-mutect	MUC16,missense_variant,p.Leu9500Met,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	28702/43816	28498/43524	9500/14507	L/M	Ctg/Atg		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	53	8948272	8948272	G	T	1	0	0	0	0	1	0	0	0	9972	933	33	2		2	MUC16	19	8948272	Missense_Mutation	SNP	G	C3N-00551_TP	3492545	8948272	49669344	553	17232											
MUC16	0	.	GRCh38	chr19	8951081	8951081	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcaggtgaagacagtgaGgaagagacagagctggcttc	13	6	16	6	0	0	5	0	2	0	3	1	7	0	6	0	4	1	3	0	4	2	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.25689C>A	p.=	p.S8563S	ENST00000397910	3/84	129	94	35	128	128	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	synonymous_variant	25893/43816	25689/43524	8563/14507	S	tcC/tcA		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	53	8951081	8951081	G	T	1	0	0	0	0	0	0	0	1	9972	987	35	2		2	MUC16	19	8951081	Silent	SNP	G	C3N-00551_TP	2809	8951081	49666535	554	17233											
ZNF627	0	.	GRCh38	chr19	11616987	11616987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagtacgtgaaaggactcatCctggaggaaagccctatgat	13	8	11	9	1	1	2	1	2	0	0	2	5	2	5	2	3	2	1	2	3	4	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.484C>G	p.Pro162Ala	p.P162A	ENST00000361113	4/4	159	149	10	206	206	0	strelka-varscan-mutect	ZNF627,missense_variant,p.Pro162Ala,ENST00000361113,NM_001290084.1,NM_145295.3,NM_001290085.1;ZNF627,3_prime_UTR_variant,,ENST00000588174,;ZNF627,downstream_gene_variant,,ENST00000587939,;ZNF627,downstream_gene_variant,,ENST00000585493,;	G	ENST00000361113	Transcript	missense_variant	692/2840	484/1386	162/461	P/A	Cct/Gct		1		1	ZNF627	HGNC	HGNC:30570	protein_coding	YES	CCDS42502.1	ENSP00000354414	Q7L945		UPI0000071491	NM_001290084.1,NM_145295.3,NM_001290085.1	deleterious(0.04)		4/4		hmmpanther:PTHR24379:SF30,hmmpanther:PTHR24379,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	11616987	11616987	C	G	1	0	0	0	0	1	0	0	0	18626	855	30	4		4	ZNF627	19	11616987	Missense_Mutation	SNP	C	C3N-00551_TP	2665906	11616987	47000629	555	17234											
KCNN1	0	.	GRCh38	chr19	17982114	17982114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgcagcctggaccgtgCgcgtctgcgagaggtgcgac	6	7	15	13	6	2	1	1	0	1	1	3	4	2	2	2	2	4	1	2	2	0	0	rs774227733		C3N-00551_TP	C3N-00551_NB	C	C																c.904C>A	p.Arg302Ser	p.R302S	ENST00000222249	5/11	46	40	6	61	61	0	strelka-varscan-mutect	KCNN1,missense_variant,p.Arg302Ser,ENST00000222249,NM_002248.4;KCNN1,missense_variant,p.Arg302Ser,ENST00000615435,;	A	ENST00000222249	Transcript	missense_variant	1223/3625	904/1632	302/543	R/S	Cgc/Agc	rs774227733,COSM5066699,COSM5066700	1		1	KCNN1	HGNC	HGNC:6290	protein_coding	YES	CCDS67611.1	ENSP00000476519	Q92952		UPI00001649F9	NM_002248.4	tolerated(0.07)		5/11		hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF38,Gene3D:1.10.287.70,Pfam_domain:PF07885,Superfamily_domains:SSF81324											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs774227733	.												A	3	1	53	17982114	17982114	C	A	1	0	0	0	0	1	0	0	0	7994	768	27	1		1	KCNN1	19	17982114	Missense_Mutation	SNP	C	C3N-00551_TP	6365127	17982114	40635502	556	17235											
ZNF99	0	.	GRCh38	chr19	22769301	22769301	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagagcgaattctatggtCacatcccaaaatgtcaacga	14	9	7	11	2	3	1	2	0	1	1	5	3	5	1	2	1	2	0	2	1	5	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.27G>C	p.=	p.V9V	ENST00000596209	2/4	129	96	33	196	196	0	strelka-varscan-mutect	ZNF99,synonymous_variant,p.=,ENST00000596209,NM_001080409.2;ZNF99,synonymous_variant,p.=,ENST00000397104,;BNIP3P34,upstream_gene_variant,,ENST00000600724,;CTB-159G17.3,upstream_gene_variant,,ENST00000604384,;CTB-159G17.4,upstream_gene_variant,,ENST00000624425,;	G	ENST00000596209	Transcript	synonymous_variant	118/7817	27/2595	9/864	V	gtG/gtC		1		-1	ZNF99	HGNC	HGNC:13175	protein_coding	YES	CCDS59369.1	ENSP00000472969	A8MXY4		UPI0000426011	NM_001080409.2			2/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24375:SF187,hmmpanther:PTHR24375,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	53	22769301	22769301	C	G	1	0	0	0	0	0	0	0	1	18797	813	29	4		4	ZNF99	19	22769301	Silent	SNP	C	C3N-00551_TP	4787187	22769301	35848315	557	17236											
ZNF91	0	.	GRCh38	chr19	23359758	23359758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatttgtagggtttctctCtagtatgaattctcttatgt	8	19	7	7	0	3	1	0	1	3	0	5	1	3	1	0	1	0	3	0	1	5	7	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.3221G>T	p.Arg1074Ile	p.R1074I	ENST00000300619	4/4	149	115	34	207	206	1	strelka-varscan-mutect	ZNF91,missense_variant,p.Arg1074Ile,ENST00000300619,NM_003430.3;ZNF91,missense_variant,p.Arg1042Ile,ENST00000397082,NM_001300951.1;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000596528,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000593341,;	A	ENST00000300619	Transcript	missense_variant	3427/5489	3221/3576	1074/1191	R/I	aGa/aTa		1		-1	ZNF91	HGNC	HGNC:13166	protein_coding	YES	CCDS42541.1	ENSP00000300619	Q05481		UPI00002038F9	NM_003430.3	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF195,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	23359758	23359758	C	A	1	0	0	0	0	1	0	0	0	18793	913	32	2		2	ZNF91	19	23359758	Missense_Mutation	SNP	C	C3N-00551_TP	590457	23359758	35257858	558	17237											
KIRREL2	0	.	GRCh38	chr19	35866374	35866374	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccccaccctcgagcttTcaccagctacatcaaaccca	12	6	3	20	1	2	0	2	0	0	0	3	1	2	0	5	0	4	2	5	0	2	2	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.2009T>C	p.Phe670Ser	p.F670S	ENST00000360202	15/15	160	119	41	307	307	0	strelka-varscan-mutect	KIRREL2,missense_variant,p.Phe670Ser,ENST00000360202,NM_199180.3;KIRREL2,missense_variant,p.Phe635Ser,ENST00000592409,;KIRREL2,intron_variant,,ENST00000347900,NM_199179.3;KIRREL2,intron_variant,,ENST00000262625,NM_032123.6;APLP1,upstream_gene_variant,,ENST00000221891,NM_005166.3,NM_001024807.1;APLP1,upstream_gene_variant,,ENST00000537454,;APLP1,upstream_gene_variant,,ENST00000586861,;APLP1,upstream_gene_variant,,ENST00000592316,;APLP1,upstream_gene_variant,,ENST00000589743,;NPHS1,intron_variant,,ENST00000591817,;APLP1,upstream_gene_variant,,ENST00000590561,;	C	ENST00000360202	Transcript	missense_variant	2207/2942	2009/2127	670/708	F/S	tTc/tCc		1		1	KIRREL2	HGNC	HGNC:18816	protein_coding	YES	CCDS12481.1	ENSP00000353331	Q6UWL6		UPI0000048F5B	NM_199180.3	deleterious(0)		15/15		hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF51																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	35866374	35866374	T	C	1	0	0	0	0	1	0	0	0	8189	1783	62	5		5	KIRREL2	19	35866374	Missense_Mutation	SNP	T	C3N-00551_TP	12506616	35866374	22751242	559	17238											
RYR1	0	.	GRCh38	chr19	38561382	38561382	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcatcgagatcatgggCgcgtcacgccgcatcgagcg	7	5	15	14	8	2	1	2	0	0	1	4	3	2	1	2	2	1	2	2	2	0	0	rs775632796		C3N-00551_TP	C3N-00551_NB	C	C																c.12552C>T	p.=	p.G4184G	ENST00000359596	90/106	209	154	55	202	201	1	strelka-varscan-mutect	RYR1,synonymous_variant,p.=,ENST00000355481,NM_001042723.1;RYR1,synonymous_variant,p.=,ENST00000359596,NM_000540.2;RYR1,3_prime_UTR_variant,,ENST00000594335,;	T	ENST00000359596	Transcript	synonymous_variant	12552/15117	12552/15117	4184/5038	G	ggC/ggT	rs775632796,COSM4077812	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2			90/106		hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715											0,1						LOW	1	SNV	5		0,1	1										PASS		rs775632796	.												T	2	4	53	38561382	38561382	C	T	1	0	0	0	0	0	0	0	1	14028	755	27	1		1	RYR1	19	38561382	Silent	SNP	C	C3N-00551_TP	2695008	38561382	20056234	560	17239											
SPTBN4	0	.	GRCh38	chr19	40513221	40513221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcttccagccgccgccTggcgcgccagcaccgcgcgc	5	3	13	20	8	0	0	0	0	0	0	1	1	1	0	6	1	3	2	6	1	1	1	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.2432T>C	p.Leu811Pro	p.L811P	ENST00000352632	14/36	115	86	29	151	151	0	strelka-varscan-mutect	SPTBN4,missense_variant,p.Leu811Pro,ENST00000338932,;SPTBN4,missense_variant,p.Leu811Pro,ENST00000352632,;SPTBN4,missense_variant,p.Leu811Pro,ENST00000392025,;SPTBN4,missense_variant,p.Leu811Pro,ENST00000598249,NM_020971.2;SPTBN4,missense_variant,p.Leu811Pro,ENST00000595535,;SPTBN4,missense_variant,p.Leu203Pro,ENST00000597389,;	C	ENST00000352632	Transcript	missense_variant	2518/8676	2432/7695	811/2564	L/P	cTg/cCg		1		1	SPTBN4	HGNC	HGNC:14896	protein_coding	YES	CCDS12559.1	ENSP00000263373	Q9H254		UPI0000135DBB		deleterious(0)		14/36		Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF232,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	5			1										PASS		rs939879148	.												C	3	2	53	40513221	40513221	T	C	1	0	0	0	0	1	0	0	0	15477	1580	55	5		5	SPTBN4	19	40513221	Missense_Mutation	SNP	T	C3N-00551_TP	1951839	40513221	18104395	561	17240											
ZNF541	0	.	GRCh38	chr19	47544126	47544126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgagagagagctggtacCtggattctgctgaatattgt	10	12	13	6	1	1	3	0	2	1	2	1	6	1	4	1	2	3	3	1	2	3	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2403G>C	p.Gln801His	p.Q801H	ENST00000391901	3/15	67	49	18	78	78	0	strelka-varscan-mutect	ZNF541,missense_variant,p.Gln801His,ENST00000314121,;ZNF541,missense_variant,p.Gln801His,ENST00000391901,NM_001277075.1;ZNF541,missense_variant,p.Gln379His,ENST00000595558,;ZNF541,missense_variant,p.Gln392His,ENST00000263351,;ZNF541,upstream_gene_variant,,ENST00000487275,;	G	ENST00000391901	Transcript	missense_variant,splice_region_variant	2403/4580	2403/4041	801/1346	Q/H	caG/caC		1		-1	ZNF541	HGNC	HGNC:25294	protein_coding	YES	CCDS46133.2	ENSP00000375770	Q9H0D2		UPI0000E5A21D	NM_001277075.1	deleterious(0)		3/15																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	53	47544126	47544126	C	G	1	0	0	0	0	1	0	0	0	18549	695	24	4		4	ZNF541	19	47544126	Missense_Mutation	SNP	C	C3N-00551_TP	7030905	47544126	11073490	562	17241											
LIG1	0	.	GRCh38	chr19	48136121	48136121	+	Frame_Shift_Del	DEL	G	G	-																															aaggcgcagccgtccgctcaGggacctggggagagagcagg																								novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1336delC	p.Leu446Ter	p.L446*	ENST00000263274	15/28	113	94	19	168	168	0	sindel-varindel	LIG1,frameshift_variant,p.Leu446Ter,ENST00000613670,;LIG1,frameshift_variant,p.Leu446Ter,ENST00000263274,NM_001320970.1,NM_000234.2;LIG1,frameshift_variant,p.Leu378Ter,ENST00000536218,NM_001289064.1;LIG1,frameshift_variant,p.Leu415Ter,ENST00000427526,NM_001320971.1,NM_001289063.1;LIG1,frameshift_variant,p.Leu445Ter,ENST00000594759,;LIG1,frameshift_variant,p.Leu446Ter,ENST00000601091,;LIG1,3_prime_UTR_variant,,ENST00000542460,;LIG1,non_coding_transcript_exon_variant,,ENST00000594067,;LIG1,non_coding_transcript_exon_variant,,ENST00000597901,;LIG1,upstream_gene_variant,,ENST00000596457,;LIG1,upstream_gene_variant,,ENST00000596672,;	-	ENST00000263274	Transcript	frameshift_variant	1756/3384	1336/2760	446/919	L/X	Ctg/tg		1		-1	LIG1	HGNC	HGNC:6598	protein_coding	YES	CCDS12711.1	ENSP00000263274	P18858		UPI0000129656	NM_001320970.1,NM_000234.2			15/28		Low_complexity_(Seg):seg,hmmpanther:PTHR10459,Pfam_domain:PF04675,TIGRFAM_domain:TIGR00574,Gene3D:1x9nA01,Superfamily_domains:0050884																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	53	48136121	48136121	G	-	1	0	1	0	1	0	0	0	0	8690	1014	35	0		0	LIG1	19	48136121	Frame_Shift_Del	DEL	G	C3N-00551_TP	591995	48136121	10481495	563	17242	372	2									
LIG1	0	.	GRCh38	chr19	48136122	48136122	+	Silent	SNP	G	G	A																															aggcgcagccgtccgctcagGgacctggggagagagcaggc																								novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1335C>T	p.=	p.S445S	ENST00000263274	15/28	120	100	20	169	169	0	strelka-mutect	LIG1,synonymous_variant,p.=,ENST00000613670,;LIG1,synonymous_variant,p.=,ENST00000263274,NM_001320970.1,NM_000234.2;LIG1,synonymous_variant,p.=,ENST00000536218,NM_001289064.1;LIG1,synonymous_variant,p.=,ENST00000427526,NM_001320971.1,NM_001289063.1;LIG1,synonymous_variant,p.=,ENST00000594759,;LIG1,synonymous_variant,p.=,ENST00000601091,;LIG1,3_prime_UTR_variant,,ENST00000542460,;LIG1,non_coding_transcript_exon_variant,,ENST00000594067,;LIG1,non_coding_transcript_exon_variant,,ENST00000597901,;LIG1,upstream_gene_variant,,ENST00000596457,;LIG1,upstream_gene_variant,,ENST00000596672,;	A	ENST00000263274	Transcript	synonymous_variant	1755/3384	1335/2760	445/919	S	tcC/tcT		1		-1	LIG1	HGNC	HGNC:6598	protein_coding	YES	CCDS12711.1	ENSP00000263274	P18858		UPI0000129656	NM_001320970.1,NM_000234.2			15/28		Low_complexity_(Seg):seg,hmmpanther:PTHR10459,Pfam_domain:PF04675,TIGRFAM_domain:TIGR00574,Gene3D:1x9nA01,Superfamily_domains:0050884																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	48136122	48136122	G	A	1	0	0	0	0	0	0	0	1	8690	1246	43	3		3	LIG1	19	48136122	Silent	SNP	G	C3N-00551_TP	1	48136122	10481494	564	17243	372	2									
RASIP1	0	.	GRCh38	chr19	48727008	48727008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgagtcagagctcaccCtcttggtcagcctccttctc	6	11	8	16	0	5	2	3	1	2	1	7	2	6	2	4	1	3	1	4	1	0	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2022G>T	p.Glu674Asp	p.E674D	ENST00000222145	7/12	134	111	23	133	132	1	strelka-varscan-mutect	RASIP1,missense_variant,p.Glu674Asp,ENST00000222145,NM_017805.2;RASIP1,intron_variant,,ENST00000599291,;RASIP1,downstream_gene_variant,,ENST00000594232,;RASIP1,upstream_gene_variant,,ENST00000601530,;	A	ENST00000222145	Transcript	missense_variant,splice_region_variant	2227/3308	2022/2892	674/963	E/D	gaG/gaT		1		-1	RASIP1	HGNC	HGNC:24716	protein_coding	YES	CCDS12731.1	ENSP00000222145	Q5U651		UPI000020283D	NM_017805.2	deleterious(0.05)		7/12		PROSITE_profiles:PS51126,hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	48727008	48727008	C	A	1	0	0	0	0	1	0	0	0	13239	695	24	2		2	RASIP1	19	48727008	Missense_Mutation	SNP	C	C3N-00551_TP	590886	48727008	9890608	565	17244											
SCAF1	0	.	GRCh38	chr19	49653107	49653107	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaggtcaaggccaaggcAggggccaagaaaaccaaggg	16	1	14	10	0	1	1	1	0	0	1	1	1	1	1	4	6	1	1	4	6	7	0	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.2718A>T	p.=	p.A906A	ENST00000360565	7/11	71	64	7	74	74	0	strelka-varscan-mutect	SCAF1,synonymous_variant,p.=,ENST00000360565,NM_021228.2;SCAF1,downstream_gene_variant,,ENST00000598359,;	T	ENST00000360565	Transcript	synonymous_variant	2842/4306	2718/3939	906/1312	A	gcA/gcT		1		1	SCAF1	HGNC	HGNC:30403	protein_coding	YES	CCDS33074.1	ENSP00000353769	Q9H7N4		UPI0000071891	NM_021228.2			7/11		Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	53	49653107	49653107	A	T	1	0	0	0	0	0	0	0	1	14132	175	7	4		4	SCAF1	19	49653107	Silent	SNP	A	C3N-00551_TP	926099	49653107	8964509	566	17245											
IL4I1	0	.	GRCh38	chr19	49894285	49894285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctggttgagagccatctGgtagatgtcttcgggcgagt	7	11	14	9	2	2	2	0	1	2	2	3	4	2	2	2	3	1	2	2	3	1	3	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.616C>A	p.Gln206Lys	p.Q206K	ENST00000595948	7/10	269	226	43	254	254	0	strelka-varscan-mutect	IL4I1,missense_variant,p.Gln206Lys,ENST00000595948,NM_001258018.1;IL4I1,missense_variant,p.Gln206Lys,ENST00000341114,NM_172374.2,NM_001258017.1;IL4I1,missense_variant,p.Gln184Lys,ENST00000391826,NM_152899.1;IL4I1,missense_variant,p.Gln147Lys,ENST00000593956,;IL4I1,downstream_gene_variant,,ENST00000596022,;IL4I1,downstream_gene_variant,,ENST00000596011,;IL4I1,downstream_gene_variant,,ENST00000597295,;IL4I1,3_prime_UTR_variant,,ENST00000601717,;	T	ENST00000595948	Transcript	missense_variant	1237/2407	616/1770	206/589	Q/K	Cag/Aag		1		-1	IL4I1	HGNC	HGNC:19094	protein_coding	YES	CCDS12786.1	ENSP00000472474	Q96RQ9		UPI00001678CE	NM_001258018.1	tolerated(0.08)		7/10		hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF21,Gene3D:1.10.405.10,Pfam_domain:PF01593,Superfamily_domains:SSF51905																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	49894285	49894285	G	T	1	0	0	0	0	1	0	0	0	7601	1357	47	2		2	IL4I1	19	49894285	Missense_Mutation	SNP	G	C3N-00551_TP	241178	49894285	8723331	567	17246											
SIGLEC11	0	.	GRCh38	chr19	49960888	49960888	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggccctccggcaccggcaCctgcctctgcacttgaagac	7	6	10	18	2	1	2	0	1	1	1	2	2	2	2	5	3	2	3	5	3	1	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.124G>T	p.Val42Leu	p.V42L	ENST00000447370	2/11	93	67	26	85	85	0	strelka-varscan-mutect	SIGLEC11,missense_variant,p.Val42Leu,ENST00000447370,NM_052884.2;SIGLEC11,missense_variant,p.Val42Leu,ENST00000426971,NM_001135163.1;SIGLEC11,upstream_gene_variant,,ENST00000426296,;CTC-326K19.6,upstream_gene_variant,,ENST00000451973,;	A	ENST00000447370	Transcript	missense_variant	215/3173	124/2097	42/698	V/L	Gtg/Ttg		1		-1	SIGLEC11	HGNC	HGNC:15622	protein_coding	YES	CCDS12790.2	ENSP00000412361	Q96RL6		UPI00018131F5	NM_052884.2	deleterious(0)		2/11		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF44,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	49960888	49960888	C	A	1	0	0	0	0	1	0	0	0	14571	507	18	2		2	SIGLEC11	19	49960888	Missense_Mutation	SNP	C	C3N-00551_TP	66603	49960888	8656728	568	17247											
CD33	0	.	GRCh38	chr19	51225972	51225972	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggactactcactcctcggtGctcataatcaccccacggcc	9	8	7	17	2	3	0	3	0	0	0	5	1	4	1	4	3	2	1	4	3	2	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.588G>T	p.=	p.V196V	ENST00000262262	3/7	249	202	47	312	312	0	strelka-varscan-mutect	CD33,synonymous_variant,p.=,ENST00000436584,;CD33,synonymous_variant,p.=,ENST00000262262,NM_001772.3;CD33,synonymous_variant,p.=,ENST00000391796,NM_001177608.1;CD33,synonymous_variant,p.=,ENST00000421133,NM_001082618.1;CD33,non_coding_transcript_exon_variant,,ENST00000598473,;CD33,non_coding_transcript_exon_variant,,ENST00000601785,;	T	ENST00000262262	Transcript	synonymous_variant	609/1444	588/1095	196/364	V	gtG/gtT		1		1	CD33	HGNC	HGNC:1659	protein_coding	YES	CCDS33084.1	ENSP00000262262	P20138	Q546G0	UPI000013D285	NM_001772.3			3/7		PROSITE_profiles:PS50835,hmmpanther:PTHR12035:SF52,hmmpanther:PTHR12035,Gene3D:2.60.40.10,Pfam_domain:PF00047,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	51225972	51225972	G	T	1	0	0	0	0	0	0	0	1	2709	1306	46	2		2	CD33	19	51225972	Silent	SNP	G	C3N-00551_TP	1265084	51225972	7391644	569	17248											
FCAR	0	.	GRCh38	chr19	54885416	54885416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaatgagactgatcctgaGttcgtcattgaccacatgga	11	11	11	8	1	1	4	1	4	0	1	3	7	2	6	2	2	0	1	2	2	1	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.252G>T	p.Glu84Asp	p.E84D	ENST00000355524	3/5	359	281	78	421	420	1	strelka-varscan-mutect	FCAR,missense_variant,p.Glu84Asp,ENST00000355524,NM_002000.3;FCAR,missense_variant,p.Glu84Asp,ENST00000469767,;FCAR,missense_variant,p.Glu84Asp,ENST00000391725,NM_133269.3;FCAR,missense_variant,p.Glu72Asp,ENST00000359272,NM_133272.3;FCAR,missense_variant,p.Glu72Asp,ENST00000391724,NM_133278.3;FCAR,missense_variant,p.Glu72Asp,ENST00000391723,NM_133274.3;FCAR,missense_variant,p.Glu72Asp,ENST00000391726,NM_133273.3;FCAR,missense_variant,p.Glu84Asp,ENST00000345937,NM_133271.3;FCAR,intron_variant,,ENST00000353758,NM_133277.3;FCAR,non_coding_transcript_exon_variant,,ENST00000482092,;FCAR,non_coding_transcript_exon_variant,,ENST00000471750,;FCAR,non_coding_transcript_exon_variant,,ENST00000472634,;FCAR,missense_variant,p.Glu72Asp,ENST00000488066,;	T	ENST00000355524	Transcript	missense_variant	262/1483	252/864	84/287	E/D	gaG/gaT		1		1	FCAR	HGNC	HGNC:3608	protein_coding	YES	CCDS12907.1	ENSP00000347714	P24071		UPI000011B429	NM_002000.3	tolerated(0.09)		3/5		Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF4,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	54885416	54885416	G	T	1	0	0	0	0	1	0	0	0	5636	1020	36	2		2	FCAR	19	54885416	Missense_Mutation	SNP	G	C3N-00551_TP	3659444	54885416	3732200	570	17249											
NLRP5	0	.	GRCh38	chr19	56015758	56015758	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaatttcacaagctgtGcaacaagatagtgccacagc	14	7	10	10	0	1	1	1	0	0	1	1	2	1	2	1	1	5	3	1	1	5	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.525G>T	p.=	p.V175V	ENST00000390649	4/15	55	37	18	57	57	0	strelka-varscan-mutect	NLRP5,synonymous_variant,p.=,ENST00000390649,NM_153447.4;NLRP5,intron_variant,,ENST00000621651,;NLRP5,synonymous_variant,p.=,ENST00000597673,;	T	ENST00000390649	Transcript	synonymous_variant	525/3888	525/3603	175/1200	V	gtG/gtT		1		1	NLRP5	HGNC	HGNC:21269	protein_coding	YES	CCDS12938.1	ENSP00000375063	P59047		UPI00001AEEBD	NM_153447.4			4/15																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	56015758	56015758	G	T	1	0	0	0	0	0	0	0	1	10518	1306	46	2		2	NLRP5	19	56015758	Silent	SNP	G	C3N-00551_TP	1130342	56015758	2601858	571	17250											
ZNF787	0	.	GRCh38	chr19	56088607	56088607	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcgcgaggctcttgggctGgctgaagccgcggccgcagc	5	5	17	14	6	1	1	0	1	1	0	1	2	1	1	2	4	2	4	2	4	1	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.565C>T	p.Gln189Ter	p.Q189*	ENST00000610935	3/3	67	45	22	133	133	0	strelka-varscan-mutect	ZNF787,stop_gained,p.Gln189Ter,ENST00000610935,NM_001002836.3;ZNF787,downstream_gene_variant,,ENST00000586787,;	A	ENST00000610935	Transcript	stop_gained	684/1925	565/1149	189/382	Q/*	Cag/Tag		1		-1	ZNF787	HGNC	HGNC:26998	protein_coding	YES	CCDS42634.1	ENSP00000478557		A0A087WUD1	UPI0001596896	NM_001002836.3			3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24408:SF1,hmmpanther:PTHR24408,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	53	56088607	56088607	G	A	1	0	0	0	0	0	1	0	0	18743	1357	47	3		3	ZNF787	19	56088607	Nonsense_Mutation	SNP	G	C3N-00551_TP	72849	56088607	2529009	572	17251											
ZNF419	0	.	GRCh38	chr19	57493936	57493936	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttttaagtgcaatgaatGtgggagattgtttagagaga	12	13	13	3	0	0	4	0	1	0	3	0	6	0	4	1	1	1	2	1	1	4	5	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1382G>C	p.Cys461Ser	p.C461S	ENST00000424930	5/5	203	156	47	288	288	0	strelka-varscan-mutect	ZNF419,missense_variant,p.Cys428Ser,ENST00000347466,NM_001098494.1,NM_001291743.1;ZNF419,missense_variant,p.Cys461Ser,ENST00000424930,NM_001098491.1;ZNF419,missense_variant,p.Cys448Ser,ENST00000426954,NM_001098492.1;ZNF419,missense_variant,p.Cys460Ser,ENST00000221735,NM_024691.3;ZNF419,missense_variant,p.Cys414Ser,ENST00000415379,NM_001098496.1,NM_001098495.1;ZNF419,missense_variant,p.Cys447Ser,ENST00000442920,NM_001098493.1;ZNF419,intron_variant,,ENST00000354197,;ZNF419,downstream_gene_variant,,ENST00000618093,;ZNF419,downstream_gene_variant,,ENST00000518999,;ZNF419,downstream_gene_variant,,ENST00000521137,;ZNF419,downstream_gene_variant,,ENST00000523882,;ZNF419,downstream_gene_variant,,ENST00000523312,;ZNF419,downstream_gene_variant,,ENST00000520540,;ZNF419,downstream_gene_variant,,ENST00000519310,;ZNF419,downstream_gene_variant,,ENST00000521754,;ZNF419,downstream_gene_variant,,ENST00000523138,;ZNF419,non_coding_transcript_exon_variant,,ENST00000522346,;ZNF419,non_coding_transcript_exon_variant,,ENST00000523439,;AC003005.4,intron_variant,,ENST00000601674,;AC003005.4,intron_variant,,ENST00000599674,;	C	ENST00000424930	Transcript	missense_variant	1611/2323	1382/1536	461/511	C/S	tGt/tCt		1		1	ZNF419	HGNC	HGNC:20648	protein_coding	YES	CCDS54325.1	ENSP00000388864	Q96HQ0		UPI0000E04CBA	NM_001098491.1	deleterious(0)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF195,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1382664695	.												C	3	2	53	57493936	57493936	G	C	1	0	0	0	0	1	0	0	0	18468	1377	48	4		4	ZNF419	19	57493936	Missense_Mutation	SNP	G	C3N-00551_TP	1405329	57493936	1123680	573	17252											
ZNF329	0	.	GRCh38	chr19	58129481	58129481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctctcaggaaaattcCgagtcgtcattttcaatctc	9	15	5	12	2	5	0	3	0	3	0	10	2	6	1	1	1	0	0	1	1	3	4	rs371224762		C3N-00551_TP	C3N-00551_NB	C	C																c.23G>T	p.Arg8Leu	p.R8L	ENST00000597186	5/5	51	38	13	48	48	0	strelka-varscan-mutect	ZNF329,missense_variant,p.Arg8Leu,ENST00000597186,;ZNF329,missense_variant,p.Arg8Leu,ENST00000598312,NM_024620.3;ZNF329,missense_variant,p.Arg8Leu,ENST00000358067,;ZNF329,missense_variant,p.Arg8Leu,ENST00000601887,;ZNF329,missense_variant,p.Arg8Leu,ENST00000500161,;	A	ENST00000597186	Transcript	missense_variant	701/3930	23/1626	8/541	R/L	cGg/cTg	rs371224762	1		-1	ZNF329	HGNC	HGNC:14209	protein_coding	YES	CCDS12972.1	ENSP00000470323	Q86UD4	A0A024R4Q4	UPI0000246E79		deleterious(0.01)		5/5		hmmpanther:PTHR24381:SF118,hmmpanther:PTHR24381																	MODERATE	1	SNV	5			1										PASS		rs371224762	.												A	3	1	53	58129481	58129481	C	A	1	0	0	0	0	1	0	0	0	18419	652	23	1		1	ZNF329	19	58129481	Missense_Mutation	SNP	C	C3N-00551_TP	635545	58129481	488135	574	17253											
SNPH	0	.	GRCh38	chr20	1305911	1305911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggctttgccgctcccagCggcgccagggccagcccatc	4	6	12	19	3	0	0	0	0	0	0	2	0	1	0	6	3	3	2	6	3	0	1	rs749027780		C3N-00551_TP	C3N-00551_NB	C	C																c.1342C>T	p.Arg448Trp	p.R448W	ENST00000381873	6/6	87	81	6	110	109	1	strelka-varscan-mutect	SNPH,missense_variant,p.Arg492Trp,ENST00000381867,NM_001318234.1;SNPH,missense_variant,p.Arg492Trp,ENST00000614659,;SNPH,missense_variant,p.Arg448Trp,ENST00000381873,NM_014723.2;SDCBP2,downstream_gene_variant,,ENST00000381812,;SDCBP2,downstream_gene_variant,,ENST00000360779,NM_080489.4;SDCBP2,downstream_gene_variant,,ENST00000339987,NM_001199784.1;SDCBP2,downstream_gene_variant,,ENST00000381808,NM_015685.5;SDCBP2,downstream_gene_variant,,ENST00000467129,;	T	ENST00000381873	Transcript	missense_variant	1578/4995	1342/1485	448/494	R/W	Cgg/Tgg	rs749027780,COSM3991548,COSM3991549	1		1	SNPH	HGNC	HGNC:15931	protein_coding	YES	CCDS13012.1	ENSP00000371297	O15079		UPI000007424E	NM_014723.2	deleterious(0)		6/6		hmmpanther:PTHR16208:SF1,hmmpanther:PTHR16208											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs749027780	.												T	3	4	53	1305911	1305911	C	T	1	0	0	0	0	1	0	0	0	15170	759	27	1		1	SNPH	20	1305911	Missense_Mutation	SNP	C	C3N-00551_TP		1305911	63138256	575	17254											
SIRPB1	0	.	GRCh38	chr20	1571990	1571990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagctcactgtgtgctcagGtgtggccctcaccgcagggc	6	8	14	13	1	3	0	3	0	0	0	3	1	3	0	2	3	2	3	2	3	1	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.481C>A	p.Pro161Thr	p.P161T	ENST00000381605	3/6	426	334	92	432	432	0	strelka-varscan-mutect	SIRPB1,missense_variant,p.Pro161Thr,ENST00000381605,NM_006065.3;SIRPB1,intron_variant,,ENST00000381603,NM_001083910.2;SIRPB1,intron_variant,,ENST00000262929,;RP4-576H24.4,intron_variant,,ENST00000564763,;SIRPB1,intron_variant,,ENST00000563840,;RP4-576H24.4,intron_variant,,ENST00000567028,;RP4-576H24.4,intron_variant,,ENST00000566961,;SIRPB1,intron_variant,,ENST00000569629,;SIRPB1,upstream_gene_variant,,ENST00000565076,;	T	ENST00000381605	Transcript	missense_variant	546/3241	481/1197	161/398	P/T	Cct/Act		1		-1	SIRPB1	HGNC	HGNC:15928	protein_coding	YES	CCDS13019.1	ENSP00000371018	O00241		UPI000036700F	NM_006065.3	deleterious(0.05)		3/6		Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF12,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	1571990	1571990	G	T	1	0	0	0	0	1	0	0	0	14596	1261	44	2		2	SIRPB1	20	1571990	Missense_Mutation	SNP	G	C3N-00551_TP	266079	1571990	62872177	576	17255											
SIGLEC1	0	.	GRCh38	chr20	3693052	3693052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgggcgggcgggcggctGtccacagtgcacagtaccag	7	5	17	12	3	0	0	0	0	0	0	1	0	1	0	2	4	3	4	2	4	1	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.3588C>G	p.Asp1196Glu	p.D1196E	ENST00000344754	14/21	93	78	15	105	105	0	strelka-varscan-mutect	SIGLEC1,missense_variant,p.Asp1196Glu,ENST00000344754,NM_023068.3;SIGLEC1,missense_variant,p.Asp10Glu,ENST00000419548,;	C	ENST00000344754	Transcript	missense_variant	3588/6720	3588/5130	1196/1709	D/E	gaC/gaG		1		-1	SIGLEC1	HGNC	HGNC:11127	protein_coding	YES	CCDS13060.1	ENSP00000341141	Q9BZZ2		UPI0000049BA6	NM_023068.3	tolerated(0.12)		14/21		Gene3D:2.60.40.10,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF70,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	3693052	3693052	G	C	1	0	0	0	0	1	0	0	0	14569	1368	48	4		4	SIGLEC1	20	3693052	Missense_Mutation	SNP	G	C3N-00551_TP	2121062	3693052	60751115	577	17256											
GPCPD1	0	.	GRCh38	chr20	5575539	5575539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaatggcttaataattataTagtcaactttcataggaaaa	17	14	6	4	0	2	0	2	0	0	0	2	1	2	1	0	2	1	2	0	2	10	8	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.875A>G	p.Tyr292Cys	p.Y292C	ENST00000379019	10/20	97	84	13	86	86	0	varscan-mutect	GPCPD1,missense_variant,p.Tyr292Cys,ENST00000379019,NM_019593.3;GPCPD1,upstream_gene_variant,,ENST00000418646,;GPCPD1,non_coding_transcript_exon_variant,,ENST00000481038,;GPCPD1,downstream_gene_variant,,ENST00000481690,;GPCPD1,upstream_gene_variant,,ENST00000633552,;GPCPD1,upstream_gene_variant,,ENST00000473797,;	C	ENST00000379019	Transcript	missense_variant	1088/5489	875/2019	292/672	Y/C	tAt/tGt		1		-1	GPCPD1	HGNC	HGNC:26957	protein_coding	YES	CCDS13090.1	ENSP00000368305	Q9NPB8		UPI0000062241	NM_019593.3	deleterious(0)		10/20		hmmpanther:PTHR22958																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	5575539	5575539	T	C	1	0	0	0	0	1	0	0	0	6505	1406	49	5		5	GPCPD1	20	5575539	Missense_Mutation	SNP	T	C3N-00551_TP	1882487	5575539	58868628	578	17257											
AL031664.1	0	.	GRCh38	chr20	17494624	17494624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatggaggagacatagaatCtagggtccacgtaattggca	13	9	13	6	1	1	3	0	1	1	2	2	5	2	4	1	4	0	2	1	4	4	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1448G>A	p.Arg483Lys	p.R483K	ENST00000377873	8/8	238	184	54	208	208	0	strelka-varscan-mutect	BFSP1,missense_variant,p.Arg483Lys,ENST00000377873,NM_001195.4;BFSP1,missense_variant,p.Arg358Lys,ENST00000377868,NM_001161705.1,NM_001278607.1;AL031664.1,missense_variant,p.Arg344Lys,ENST00000536626,NM_001278606.1,NM_001278608.1;	T	ENST00000377873	Transcript	missense_variant	1488/2207	1448/1998	483/665	R/K	aGa/aAa		1		-1	BFSP1	HGNC	HGNC:1040	protein_coding	YES	CCDS13126.1	ENSP00000367104	Q12934		UPI00001268C7	NM_001195.4	tolerated(0.27)		8/8		hmmpanther:PTHR14069,hmmpanther:PTHR14069:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	17494624	17494624	C	T	1	0	0	0	0	1	0	0	0	568	913	32	3		3	AL031664.1	20	17494624	Missense_Mutation	SNP	C	C3N-00551_TP	11919085	17494624	46949543	579	17258											
CD93	0	.	GRCh38	chr20	23085057	23085057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcctgacaggccccctctCcaggaccgcccggctcatag	7	6	9	19	2	2	1	1	1	1	0	4	2	3	2	6	3	0	1	6	3	1	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1136G>T	p.Gly379Val	p.G379V	ENST00000246006	1/2	74	67	7	91	91	0	strelka-varscan-mutect	CD93,missense_variant,p.Gly379Val,ENST00000246006,NM_012072.3;	A	ENST00000246006	Transcript	missense_variant	1284/6708	1136/1959	379/652	G/V	gGa/gTa		1		-1	CD93	HGNC	HGNC:15855	protein_coding	YES	CCDS13149.1	ENSP00000246006	Q9NPY3		UPI00001273BC	NM_012072.3	tolerated(0.08)		1/2		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF285,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	23085057	23085057	C	A	1	0	0	0	0	1	0	0	0	2751	855	30	2		2	CD93	20	23085057	Missense_Mutation	SNP	C	C3N-00551_TP	5590433	23085057	41359110	580	17259											
DNMT3B	0	.	GRCh38	chr20	32793559	32793559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaataagtcgaaggtgcgtCgtgcaggcagtaggaaatta	13	10	13	5	3	0	0	0	0	0	0	2	2	0	1	0	3	2	3	0	3	6	4	rs752673059		C3N-00551_TP	C3N-00551_NB	C	C																c.1090C>T	p.Arg364Cys	p.R364C	ENST00000328111	10/23	495	470	25	511	511	0	strelka-varscan-mutect	DNMT3B,missense_variant,p.Arg364Cys,ENST00000328111,NM_006892.3;DNMT3B,intron_variant,,ENST00000201963,NM_175850.2;DNMT3B,intron_variant,,ENST00000353855,NM_175848.1;DNMT3B,intron_variant,,ENST00000348286,NM_175849.1;DNMT3B,intron_variant,,ENST00000443239,NM_001207055.1;DNMT3B,intron_variant,,ENST00000456297,NM_001207056.1;	T	ENST00000328111	Transcript	missense_variant	1411/4336	1090/2562	364/853	R/C	Cgt/Tgt	rs752673059	1		1	DNMT3B	HGNC	HGNC:2979	protein_coding	YES	CCDS13205.1	ENSP00000328547	Q9UBC3		UPI0000001046	NM_006892.3	tolerated(0.13)		10/23																			MODERATE	1	SNV	1			1										PASS		rs752673059	.												T	3	4	53	32793559	32793559	C	T	1	0	0	0	0	1	0	0	0	4490	884	31	1		1	DNMT3B	20	32793559	Missense_Mutation	SNP	C	C3N-00551_TP	9708502	32793559	31650608	581	17260											
EIF2S2	0	.	GRCh38	chr20	34089749	34089750	+	In_Frame_Ins	INS	-	-	GCT																															ttagttagctttggcacggaINSgctgtgctcgcttgcccgtg																								novel		C3N-00551_TP	C3N-00551_NB	-	-																c.980_982dupAGC	p.Gln327dup	p.Q327dup	ENST00000374980	9/9	82	67	15	134	134	0	sindel-varindel-pindel	EIF2S2,inframe_insertion,p.Gln327dup,ENST00000374980,NM_001316363.1,NM_003908.3;RALY,downstream_gene_variant,,ENST00000375114,NM_007367.3;RALY,intron_variant,,ENST00000489384,;	GCT	ENST00000374980	Transcript	inframe_insertion	1204-1205/2656	982-983/1002	328/333	L/QL	ctc/cAGCtc		1		-1	EIF2S2	HGNC	HGNC:3266	protein_coding	YES	CCDS13231.1	ENSP00000364119	P20042	Q6IBR8	UPI000012D28F	NM_001316363.1,NM_003908.3			9/9		hmmpanther:PTHR23001																	MODERATE	1	insertion	1			1										PASS		.	.												GCT	7	5	53	34089749	34089749	-	GCT	1	0	1	1	0	0	0	0	0	4843	304	11	0		0	EIF2S2	20	34089749	In_Frame_Ins	INS	-	C3N-00551_TP	1296190	34089749	30354418	582	17261											
NCOA6	0	.	GRCh38	chr20	34757301	34757301	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagttaggtggcacatttcCctgttgaaccataggattcc	10	12	10	9	0	0	1	0	1	0	0	2	3	2	2	3	3	1	3	3	3	4	5	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1447G>T	p.Gly483Ter	p.G483*	ENST00000374796	8/16	78	63	15	90	90	0	strelka-varscan-mutect	NCOA6,stop_gained,p.Gly483Ter,ENST00000374796,NM_001318240.1;NCOA6,stop_gained,p.Gly483Ter,ENST00000359003,NM_014071.3;NCOA6,stop_gained,p.Gly483Ter,ENST00000612493,NM_001242539.1;NCOA6,stop_gained,p.Gly483Ter,ENST00000616167,;	A	ENST00000374796	Transcript	stop_gained	4018/9311	1447/6192	483/2063	G/*	Gga/Tga		1		-1	NCOA6	HGNC	HGNC:15936	protein_coding	YES	CCDS13241.1	ENSP00000363929	Q14686		UPI000013C634	NM_001318240.1			8/16		hmmpanther:PTHR15690,hmmpanther:PTHR15690:SF0																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	53	34757301	34757301	C	A	1	0	0	0	0	0	1	0	0	10252	632	22	2		2	NCOA6	20	34757301	Nonsense_Mutation	SNP	C	C3N-00551_TP	667552	34757301	29686866	583	17262											
SLC12A5	0	.	GRCh38	chr20	46048066	46048066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacgcctggaggaagggcccCcacacaccaagaactggagg	12	3	13	13	1	0	1	0	0	0	1	0	4	0	4	4	5	2	0	4	5	4	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2062C>A	p.Pro688Thr	p.P688T	ENST00000454036	16/26	164	114	50	167	167	0	strelka-varscan-mutect	SLC12A5,missense_variant,p.Pro665Thr,ENST00000243964,NM_020708.4;SLC12A5,missense_variant,p.Pro688Thr,ENST00000454036,NM_001134771.1;SLC12A5,3_prime_UTR_variant,,ENST00000616933,;SLC12A5,intron_variant,,ENST00000616201,;SLC12A5,intron_variant,,ENST00000616202,;SLC12A5,intron_variant,,ENST00000626937,;SLC12A5,3_prime_UTR_variant,,ENST00000539566,;SLC12A5,downstream_gene_variant,,ENST00000626144,;SLC12A5,downstream_gene_variant,,ENST00000608594,;	A	ENST00000454036	Transcript	missense_variant	2138/3593	2062/3420	688/1139	P/T	Cca/Aca		1		1	SLC12A5	HGNC	HGNC:13818	protein_coding	YES	CCDS46610.1	ENSP00000387694	Q9H2X9		UPI00015F4605	NM_001134771.1	deleterious(0.05)		16/26		hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930																	MODERATE	1	SNV	5			1										PASS		rs1357044095	.												A	3	1	53	46048066	46048066	C	A	1	0	0	0	0	1	0	0	0	14651	623	22	2		2	SLC12A5	20	46048066	Missense_Mutation	SNP	C	C3N-00551_TP	11290765	46048066	18396101	584	17263											
CDH22	0	.	GRCh38	chr20	46241106	46241106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgatcccgagcctgggccCgcagcgtgtagaaggttttc	6	8	14	13	5	0	1	0	0	0	1	2	3	1	1	3	2	2	3	3	2	2	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.407G>T	p.Arg136Leu	p.R136L	ENST00000537909	3/12	328	286	42	306	306	0	strelka-varscan-mutect	CDH22,missense_variant,p.Arg136Leu,ENST00000537909,NM_021248.2;CDH22,missense_variant,p.Arg136Leu,ENST00000372262,;	A	ENST00000537909	Transcript	missense_variant	1050/3902	407/2487	136/828	R/L	cGg/cTg		1		-1	CDH22	HGNC	HGNC:13251	protein_coding	YES	CCDS13395.1	ENSP00000437790	Q9UJ99		UPI0000126DC0	NM_021248.2	deleterious(0.02)		3/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF311,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	2			1										PASS		rs1185236454	.												A	3	1	53	46241106	46241106	C	A	1	0	0	0	0	1	0	0	0	2810	652	23	1		1	CDH22	20	46241106	Missense_Mutation	SNP	C	C3N-00551_TP	193040	46241106	18203061	585	17264											
PREX1	0	.	GRCh38	chr20	48642258	48642258	+	Missense_Mutation	SNP	C	C	A																															gagagcattgatggagtccaCctgggtggcaagaagcctgg																								novel		C3N-00551_TP	C3N-00551_NB	C	C																c.3685G>T	p.Val1229Leu	p.V1229L	ENST00000371941	29/40	294	213	81	282	282	0	strelka-varscan-mutect	PREX1,missense_variant,p.Val1229Leu,ENST00000371941,NM_020820.3;PREX1,splice_region_variant,,ENST00000496915,;PREX1,missense_variant,p.Val551Leu,ENST00000482556,;	A	ENST00000371941	Transcript	missense_variant,splice_region_variant	3708/6636	3685/4980	1229/1659	V/L	Gtg/Ttg		1		-1	PREX1	HGNC	HGNC:32594	protein_coding	YES	CCDS13410.1	ENSP00000361009	Q8TCU6		UPI000013D375	NM_020820.3	deleterious(0.01)		29/40		hmmpanther:PTHR22829:SF6,hmmpanther:PTHR22829																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	48642258	48642258	C	A	1	0	0	0	0	1	0	0	0	12610	521	18	2		2	PREX1	20	48642258	Missense_Mutation	SNP	C	C3N-00551_TP	2401152	48642258	15801909	586	17265	373	2									
PREX1	0	.	GRCh38	chr20	48642259	48642259	+	Splice_Site	SNP	C	C	A																															agagcattgatggagtccacCtgggtggcaagaagcctggg																								novel		C3N-00551_TP	C3N-00551_NB	C	C																c.3685-1G>T		p.X1229_splice	ENST00000371941		294	214	80	282	282	0	strelka-varscan-mutect	PREX1,splice_acceptor_variant,,ENST00000371941,NM_020820.3;PREX1,splice_acceptor_variant,,ENST00000496915,;PREX1,splice_acceptor_variant,,ENST00000482556,;	A	ENST00000371941	Transcript	splice_acceptor_variant	-/6636	3685/4980	1229/1659				1		-1	PREX1	HGNC	HGNC:32594	protein_coding	YES	CCDS13410.1	ENSP00000361009	Q8TCU6		UPI000013D375	NM_020820.3				28/39																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	53	48642259	48642259	C	A	1	0	0	0	0	0	0	1	0	12610	695	24	2		2	PREX1	20	48642259	Splice_Site	SNP	C	C3N-00551_TP	1	48642259	15801908	587	17266	373	2									
BCAS1	0	.	GRCh38	chr20	54028813	54028813	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtacgtcctggtacaggcCgagagagcatcaagaaaaaa	15	5	12	9	3	1	2	1	0	0	2	2	4	2	2	2	3	3	3	2	3	6	2			C3N-00551_TP	C3N-00551_NB	C	C																c.302G>T	p.Arg101Leu	p.R101L	ENST00000395961	4/12	343	220	123	254	254	0	strelka-varscan-mutect	BCAS1,missense_variant,p.Arg101Leu,ENST00000395961,NM_003657.2;BCAS1,missense_variant,p.Arg101Leu,ENST00000371435,NM_001316361.2,NM_001323347.1;BCAS1,upstream_gene_variant,,ENST00000448484,;	A	ENST00000395961	Transcript	missense_variant	469/3303	302/1755	101/584	R/L	cGg/cTg	COSM4164763,COSM4164764,COSM578135	1		-1	BCAS1	HGNC	HGNC:974	protein_coding	YES	CCDS13444.1	ENSP00000379290	O75363		UPI000013D2E2	NM_003657.2	tolerated(0.1)		4/12		hmmpanther:PTHR15016											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs770667715	.												A	3	1	53	54028813	54028813	C	A	1	0	0	0	0	1	0	0	0	1497	652	23	1		1	BCAS1	20	54028813	Missense_Mutation	SNP	C	C3N-00551_TP	5386554	54028813	10415354	588	17267											
BMP7	0	.	GRCh38	chr20	57183875	57183875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcttgttctggggccCgtgccgcccaatcaggcccg	3	8	15	15	3	2	0	1	0	1	0	2	0	2	0	4	4	2	3	4	4	1	2	rs757024706		C3N-00551_TP	C3N-00551_NB	C	C																c.805G>T	p.Gly269Trp	p.G269W	ENST00000395863	4/7	569	378	191	438	438	0	strelka-varscan-mutect	BMP7,missense_variant,p.Gly269Trp,ENST00000395863,NM_001719.2;BMP7,missense_variant,p.Gly269Trp,ENST00000450594,;BMP7,missense_variant,p.Gly191Trp,ENST00000433911,;BMP7,intron_variant,,ENST00000395864,;BMP7,non_coding_transcript_exon_variant,,ENST00000460817,;BMP7,non_coding_transcript_exon_variant,,ENST00000463939,;	A	ENST00000395863	Transcript	missense_variant	1311/4013	805/1296	269/431	G/W	Ggg/Tgg	rs757024706	1		-1	BMP7	HGNC	HGNC:1074	protein_coding	YES	CCDS13455.1	ENSP00000379204	P18075	A8K571	UPI00000349AD	NM_001719.2	deleterious(0)		4/7		Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135																	MODERATE	1	SNV	1			1										PASS		rs757024706	.												A	3	1	53	57183875	57183875	C	A	1	0	0	0	0	1	0	0	0	1620	652	23	1		1	BMP7	20	57183875	Missense_Mutation	SNP	C	C3N-00551_TP	3155062	57183875	7260292	589	17268											
ZNF831	0	.	GRCh38	chr20	59191915	59191915	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcacacaaccctggcGtaagttgccagagcagaagt	12	5	12	12	1	0	2	0	0	0	2	0	2	0	2	3	2	4	4	3	2	3	2	rs779936120		C3N-00551_TP	C3N-00551_NB	G	G																c.896G>T	p.Arg299Leu	p.R299L	ENST00000637017	4/8	173	105	68	183	183	0	strelka-varscan-mutect	ZNF831,missense_variant,p.Arg299Leu,ENST00000637017,;ZNF831,missense_variant,p.Arg299Leu,ENST00000371030,NM_178457.2;	T	ENST00000637017	Transcript	missense_variant	2445/10953	896/5034	299/1677	R/L	cGt/cTt	rs779936120	1		1	ZNF831	HGNC	HGNC:16167	protein_coding	YES	CCDS42894.1	ENSP00000490240			UPI00001D82E4		tolerated(0.25)		4/8		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52																	MODERATE	1	SNV				1										PASS		rs779936120	.												T	3	4	53	59191915	59191915	G	T	1	0	0	0	0	1	0	0	0	18770	1145	40	1		1	ZNF831	20	59191915	Missense_Mutation	SNP	G	C3N-00551_TP	2008040	59191915	5252252	590	17269											
CDH4	0	.	GRCh38	chr20	61910470	61910470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaccgtggtcgcaaacCtcacggtgatggaccgagat	10	7	14	10	4	1	3	1	1	0	2	2	6	1	4	3	4	1	1	3	4	1	0			C3N-00551_TP	C3N-00551_NB	C	C																c.1237C>A	p.Leu413Ile	p.L413I	ENST00000614565	9/16	287	196	91	231	231	0	strelka-varscan-mutect	CDH4,missense_variant,p.Leu413Ile,ENST00000614565,NM_001794.4;CDH4,missense_variant,p.Leu319Ile,ENST00000611855,;CDH4,missense_variant,p.Leu339Ile,ENST00000543233,NM_001252338.2,NM_001252339.2;	A	ENST00000614565	Transcript	missense_variant	1325/6513	1237/2751	413/916	L/I	Ctc/Atc	COSM4905239	1		1	CDH4	HGNC	HGNC:1763	protein_coding	YES	CCDS13488.1	ENSP00000484928	P55283		UPI000015FE86	NM_001794.4	deleterious(0)		9/16		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF81,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	53	61910470	61910470	C	A	1	0	0	0	0	1	0	0	0	2815	681	24	2		2	CDH4	20	61910470	Missense_Mutation	SNP	C	C3N-00551_TP	2718555	61910470	2533697	591	17270											
LAMA5	0	.	GRCh38	chr20	62336421	62336421	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcggcccctccacgtgagCccggcacatacagggaacct	8	5	11	17	3	0	1	0	1	0	0	2	2	1	2	5	3	3	2	5	3	2	1			C3N-00551_TP	C3N-00551_NB	C	C																c.2242G>T	p.Ala748Ser	p.A748S	ENST00000252999	18/80	103	81	22	105	105	0	strelka-varscan-mutect	LAMA5,missense_variant,p.Ala748Ser,ENST00000252999,NM_005560.4;LAMA5,upstream_gene_variant,,ENST00000577688,;LAMA5,3_prime_UTR_variant,,ENST00000474128,;	A	ENST00000252999	Transcript	missense_variant	2309/11426	2242/11088	748/3695	A/S	Gct/Tct	COSM3405255	1		-1	LAMA5	HGNC	HGNC:6485	protein_coding	YES	CCDS33502.1	ENSP00000252999	O15230		UPI0000161FDC	NM_005560.4	tolerated(0.38)		18/80		PROSITE_profiles:PS50027,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196											1						MODERATE	1	SNV	1		1	1										PASS		rs1178002208	.												A	3	1	53	62336421	62336421	C	A	1	0	0	0	0	1	0	0	0	8513	739	26	2		2	LAMA5	20	62336421	Missense_Mutation	SNP	C	C3N-00551_TP	425951	62336421	2107746	592	17271											
COL9A3	0	.	GRCh38	chr20	62821197	62821197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggaagtctgggaccccCggggccgcccgggctggggg	5	3	20	13	3	1	0	0	0	1	0	1	2	1	2	4	7	0	1	4	7	1	0	rs367778234		C3N-00551_TP	C3N-00551_NB	C	C																c.326C>A	p.Pro109Gln	p.P109Q	ENST00000343916	6/32	240	213	27	181	181	0	strelka-varscan-mutect	COL9A3,missense_variant,p.Pro109Gln,ENST00000343916,NM_001853.3;COL9A3,missense_variant,p.Pro72Gln,ENST00000452372,;COL9A3,non_coding_transcript_exon_variant,,ENST00000489045,;COL9A3,non_coding_transcript_exon_variant,,ENST00000477612,;COL9A3,upstream_gene_variant,,ENST00000463487,;	A	ENST00000343916	Transcript	missense_variant	329/2485	326/2055	109/684	P/Q	cCg/cAg	rs367778234	1		1	COL9A3	HGNC	HGNC:2219	protein_coding	YES	CCDS13505.1	ENSP00000341640	Q14050		UPI0000126D51	NM_001853.3	deleterious(0.04)		6/32		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF529,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs367778234	.												A	3	1	53	62821197	62821197	C	A	1	0	0	0	0	1	0	0	0	3498	652	23	1		1	COL9A3	20	62821197	Missense_Mutation	SNP	C	C3N-00551_TP	484776	62821197	1622970	593	17272											
EEF1A2	0	.	GRCh38	chr20	63490684	63490684	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgcaaaggtcaccaccatgCccggccgcaggatgccggtc	8	4	13	16	4	1	0	1	0	0	0	2	1	1	1	5	4	2	2	5	4	1	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.824G>T	p.Gly275Val	p.G275V	ENST00000217182	6/8	335	238	97	245	245	0	strelka-varscan-mutect	EEF1A2,missense_variant,p.Gly275Val,ENST00000217182,NM_001958.3;EEF1A2,missense_variant,p.Gly275Val,ENST00000298049,;	A	ENST00000217182	Transcript	missense_variant	1153/2006	824/1392	275/463	G/V	gGc/gTc		1		-1	EEF1A2	HGNC	HGNC:3192	protein_coding	YES	CCDS13522.1	ENSP00000217182	Q05639		UPI0000000136	NM_001958.3	deleterious_low_confidence(0)		6/8		HAMAP:MF_00118_A,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,Pfam_domain:PF03144,Gene3D:2.40.30.10,TIGRFAM_domain:TIGR00483,Superfamily_domains:SSF50447																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	63490684	63490684	C	A	1	0	0	0	0	1	0	0	0	4753	739	26	2		2	EEF1A2	20	63490684	Missense_Mutation	SNP	C	C3N-00551_TP	669487	63490684	953483	594	17273											
SRMS	0	.	GRCh38	chr20	63540899	63540899	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcggggctgctcctccaGcactccagcatgagcacgta	7	8	10	16	2	0	1	0	1	0	0	5	1	4	1	4	2	4	6	4	2	1	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1386C>A	p.Cys462Ter	p.C462*	ENST00000217188	8/8	160	123	37	166	166	0	strelka-varscan-mutect	SRMS,stop_gained,p.Cys462Ter,ENST00000217188,NM_080823.3;PTK6,upstream_gene_variant,,ENST00000542869,NM_005975.3;PTK6,upstream_gene_variant,,ENST00000217185,NM_001256358.1;RP4-697K14.15,upstream_gene_variant,,ENST00000620908,;	T	ENST00000217188	Transcript	stop_gained	1427/1516	1386/1467	462/488	C/*	tgC/tgA		1		-1	SRMS	HGNC	HGNC:11298	protein_coding	YES	CCDS13525.1	ENSP00000217188	Q9H3Y6		UPI000004F1F3	NM_080823.3			8/8		Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF23,SMART_domains:SM00219,Superfamily_domains:SSF56112																	HIGH		SNV	2			1										PASS		.	.												T	4	4	53	63540899	63540899	G	T	1	0	0	0	0	0	1	0	0	15513	963	34	2		2	SRMS	20	63540899	Nonsense_Mutation	SNP	G	C3N-00551_TP	50215	63540899	903268	595	17274											
HSPA13	0	.	GRCh38	chr21	14375691	14375691	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatccctccttgtttatTcagtaaagacacatctagag	14	12	5	10	0	2	2	1	0	1	2	4	2	4	2	2	0	1	2	2	0	5	6	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.709A>G	p.Asn237Asp	p.N237D	ENST00000285667	4/5	147	134	13	192	192	0	strelka-varscan-mutect	HSPA13,missense_variant,p.Asn237Asp,ENST00000285667,NM_006948.4;HSPA13,downstream_gene_variant,,ENST00000478035,;	C	ENST00000285667	Transcript	missense_variant	777/3986	709/1416	237/471	N/D	Aat/Gat		1		-1	HSPA13	HGNC	HGNC:11375	protein_coding	YES	CCDS13567.1	ENSP00000285667	P48723	A0A140VK72	UPI00001360C2	NM_006948.4	tolerated(0.13)		4/5		hmmpanther:PTHR19375:SF169,hmmpanther:PTHR19375,Pfam_domain:PF00012,Gene3D:3.30.420.40,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	14375691	14375691	T	C	1	0	0	0	0	1	0	0	0	7302	1783	62	5		5	HSPA13	21	14375691	Missense_Mutation	SNP	T	C3N-00551_TP		14375691	32334292	596	17275											
GRIK1	0	.	GRCh38	chr21	29561787	29561787	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcatcactgtttcttaccagGgcggtctgctgcctgctgct	4	14	10	13	1	4	0	2	0	2	0	4	0	4	0	2	2	5	4	2	2	1	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2193C>A	p.=	p.A731A	ENST00000399907	15/17	339	290	49	375	375	0	strelka-varscan-mutect	GRIK1,synonymous_variant,p.=,ENST00000399914,;GRIK1,synonymous_variant,p.=,ENST00000399907,NM_000830.3;GRIK1,synonymous_variant,p.=,ENST00000399909,;GRIK1,synonymous_variant,p.=,ENST00000399913,;GRIK1,synonymous_variant,p.=,ENST00000327783,;GRIK1,synonymous_variant,p.=,ENST00000389125,NM_175611.2;GRIK1,synonymous_variant,p.=,ENST00000389124,;BACH1,intron_variant,,ENST00000422809,;BACH1,intron_variant,,ENST00000468059,;	T	ENST00000399907	Transcript	synonymous_variant	2605/3472	2193/2757	731/918	A	gcC/gcA		1		-1	GRIK1	HGNC	HGNC:4579	protein_coding	YES	CCDS42913.1	ENSP00000382791	P39086		UPI000012B612	NM_000830.3			15/17		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	29561787	29561787	G	T	1	0	0	0	0	0	0	0	1	6655	1219	43	2		2	GRIK1	21	29561787	Silent	SNP	G	C3N-00551_TP	15186096	29561787	17148196	597	17276											
ITSN1	0	.	GRCh38	chr21	33811010	33811010	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagaacccggctggctTggaggagaattaaaaggaaa	15	6	14	6	1	0	2	0	0	0	2	0	6	0	4	1	6	1	2	1	6	5	2	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.2355T>A	p.=	p.L785L	ENST00000381318	21/40	166	146	20	197	197	0	strelka-varscan-mutect	ITSN1,synonymous_variant,p.=,ENST00000381318,NM_003024.2;ITSN1,synonymous_variant,p.=,ENST00000381285,;ITSN1,synonymous_variant,p.=,ENST00000399367,;ITSN1,synonymous_variant,p.=,ENST00000381291,NM_001001132.1;ITSN1,synonymous_variant,p.=,ENST00000399352,;ITSN1,synonymous_variant,p.=,ENST00000399349,;ITSN1,synonymous_variant,p.=,ENST00000399355,;ITSN1,synonymous_variant,p.=,ENST00000399353,;ITSN1,synonymous_variant,p.=,ENST00000399338,;ITSN1,synonymous_variant,p.=,ENST00000440794,;ITSN1,3_prime_UTR_variant,,ENST00000379960,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,stop_gained,p.Leu74Ter,ENST00000419241,;ITSN1,upstream_gene_variant,,ENST00000465143,;	A	ENST00000381318	Transcript	synonymous_variant	2643/17015	2355/5166	785/1721	L	ctT/ctA		1		1	ITSN1	HGNC	HGNC:6183	protein_coding	YES	CCDS33545.1	ENSP00000370719	Q15811		UPI00001403C6	NM_003024.2			21/40		PROSITE_profiles:PS50002,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF68,Gene3D:2.30.30.40,Pfam_domain:PF14604,SMART_domains:SM00326,Superfamily_domains:SSF50044																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	33811010	33811010	T	A	1	0	0	0	0	0	0	0	1	7832	1799	63	4		4	ITSN1	21	33811010	Silent	SNP	T	C3N-00551_TP	4249223	33811010	12898973	598	17277											
CHAF1B	0	.	GRCh38	chr21	36413262	36413262	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaacacaaaagcccacccAtcccggagggtcactctgaa	15	4	7	15	1	2	1	1	1	1	0	3	2	3	2	3	2	2	0	3	2	5	0	rs374268527		C3N-00551_TP	C3N-00551_NB	A	A																c.1440A>T	p.=	p.P480P	ENST00000314103	12/14	93	79	14	107	107	0	strelka-varscan-mutect	CHAF1B,synonymous_variant,p.=,ENST00000314103,NM_005441.2;CHAF1B,downstream_gene_variant,,ENST00000481458,;	T	ENST00000314103	Transcript	synonymous_variant	1591/4480	1440/1680	480/559	P	ccA/ccT	rs374268527	1		1	CHAF1B	HGNC	HGNC:1911	protein_coding	YES	CCDS13644.1	ENSP00000315700	Q13112		UPI0000126DD1	NM_005441.2			12/14		hmmpanther:PTHR15271,Pfam_domain:PF15512																	LOW	1	SNV	1			1										PASS		rs374268527	.												T	2	4	53	36413262	36413262	A	T	1	0	0	0	0	0	0	0	1	3071	204	8	4		4	CHAF1B	21	36413262	Silent	SNP	A	C3N-00551_TP	2602252	36413262	10296721	599	17278											
HLCS	0	.	GRCh38	chr21	36937356	36937356	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttgtttgagacctgatccTtaacttccttcagagtggag	8	14	10	9	0	1	3	1	2	0	2	3	5	3	4	3	1	1	2	3	1	1	5	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.89A>T	p.Lys30Met	p.K30M	ENST00000399120	5/12	180	151	29	211	211	0	strelka-varscan-mutect	HLCS,missense_variant,p.Lys30Met,ENST00000399120,NM_001242784.1;HLCS,missense_variant,p.Lys30Met,ENST00000612277,NM_001242785.1;HLCS,missense_variant,p.Lys30Met,ENST00000336648,NM_000411.6;HLCS,missense_variant,p.Lys30Met,ENST00000448340,;HLCS,missense_variant,p.Lys177Met,ENST00000419461,;HLCS,missense_variant,p.Lys30Met,ENST00000427746,;	A	ENST00000399120	Transcript	missense_variant	1320/6466	89/2181	30/726	K/M	aAg/aTg		1		-1	HLCS	HGNC	HGNC:4976	protein_coding	YES	CCDS13647.1	ENSP00000382071	P50747		UPI0000126A8C	NM_001242784.1	deleterious(0.03)		5/12		hmmpanther:PTHR12835,hmmpanther:PTHR12835:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	36937356	36937356	T	A	1	0	0	0	0	1	0	0	0	7103	1609	56	4		4	HLCS	21	36937356	Missense_Mutation	SNP	T	C3N-00551_TP	524094	36937356	9772627	600	17279											
ADARB1	0	.	GRCh38	chr21	45175752	45175752	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcagcactgatgtgaaGgaaaaccgcaatctggacaa	15	6	10	10	1	1	2	0	2	1	0	2	4	2	4	2	2	3	3	2	2	5	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.51G>A	p.=	p.K17K	ENST00000360697	2/10	134	122	12	216	215	1	strelka-varscan-mutect	ADARB1,synonymous_variant,p.=,ENST00000348831,NM_001112.3;ADARB1,synonymous_variant,p.=,ENST00000360697,;ADARB1,synonymous_variant,p.=,ENST00000437626,NM_015833.3;ADARB1,synonymous_variant,p.=,ENST00000629643,;ADARB1,synonymous_variant,p.=,ENST00000389863,NM_001160230.1,NM_015834.3;ADARB1,synonymous_variant,p.=,ENST00000449478,;ADARB1,non_coding_transcript_exon_variant,,ENST00000389861,;ADARB1,upstream_gene_variant,,ENST00000481022,;ADARB1,downstream_gene_variant,,ENST00000464215,;ADARB1,upstream_gene_variant,,ENST00000631642,;ADARB1,synonymous_variant,p.=,ENST00000496664,;ADARB1,synonymous_variant,p.=,ENST00000492414,;	A	ENST00000360697	Transcript	synonymous_variant	66/6604	51/2226	17/741	K	aaG/aaA		1		1	ADARB1	HGNC	HGNC:226	protein_coding	YES	CCDS33589.1	ENSP00000353920	P78563		UPI0000133622				2/10		hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF58																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	45175752	45175752	G	A	1	0	0	0	0	0	0	0	1	326	991	35	3		3	ADARB1	21	45175752	Silent	SNP	G	C3N-00551_TP	8238396	45175752	1534231	601	17280											
COL18A1	0	.	GRCh38	chr21	45493172	45493172	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccattccagggacctgcaGgacccaagggcaacctgggc	9	5	12	15	0	0	0	0	0	0	0	2	2	2	2	5	4	2	2	5	4	2	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.3469G>T	p.Gly1157Ter	p.G1157*	ENST00000359759	24/41	328	294	34	386	386	0	strelka-varscan-mutect	COL18A1,stop_gained,p.Gly1157Ter,ENST00000359759,NM_130444.2;COL18A1,stop_gained,p.Gly922Ter,ENST00000355480,NM_030582.3;COL18A1,stop_gained,p.Gly742Ter,ENST00000400337,NM_130445.3;COL18A1,stop_gained,p.Gly89Ter,ENST00000342220,;SLC19A1,downstream_gene_variant,,ENST00000417954,;COL18A1,upstream_gene_variant,,ENST00000459895,;	T	ENST00000359759	Transcript	stop_gained	3469/6586	3469/5265	1157/1754	G/*	Gga/Tga		1		1	COL18A1	HGNC	HGNC:2195	protein_coding	YES	CCDS77643.1	ENSP00000352798	P39060		UPI0001838820	NM_130444.2			24/41		hmmpanther:PTHR24023,Low_complexity_(Seg):seg																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	53	45493172	45493172	G	T	1	0	0	0	0	0	1	0	0	3463	1001	35	2		2	COL18A1	21	45493172	Nonsense_Mutation	SNP	G	C3N-00551_TP	317420	45493172	1216811	602	17281											
COL18A1	0	.	GRCh38	chr21	45504431	45504431	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggggagaagggagacCgaggtgatgcaggacagaaa	15	2	18	6	1	0	4	0	1	0	3	0	8	0	5	1	5	1	1	1	5	2	0	rs753824908		C3N-00551_TP	C3N-00551_NB	C	C																c.3988C>A	p.=	p.R1330R	ENST00000359759	33/41	79	68	11	107	107	0	strelka-mutect	COL18A1,synonymous_variant,p.=,ENST00000359759,NM_130444.2;COL18A1,synonymous_variant,p.=,ENST00000355480,NM_030582.3;COL18A1,synonymous_variant,p.=,ENST00000400337,NM_130445.3;COL18A1,synonymous_variant,p.=,ENST00000342220,;SLC19A1,intron_variant,,ENST00000417954,;SLC19A1,intron_variant,,ENST00000567670,;COL18A1,upstream_gene_variant,,ENST00000423214,;SLC19A1,upstream_gene_variant,,ENST00000461785,;COL18A1,upstream_gene_variant,,ENST00000473212,;	A	ENST00000359759	Transcript	synonymous_variant	3988/6586	3988/5265	1330/1754	R	Cga/Aga	rs753824908	1		1	COL18A1	HGNC	HGNC:2195	protein_coding	YES	CCDS77643.1	ENSP00000352798	P39060		UPI0001838820	NM_130444.2			33/41		hmmpanther:PTHR24023										likely_pathogenic							LOW	1	SNV	5		1	1										PASS		rs753824908	.												A	2	1	53	45504431	45504431	C	A	1	0	0	0	0	0	0	0	1	3463	644	23	1		1	COL18A1	21	45504431	Silent	SNP	C	C3N-00551_TP	11259	45504431	1205552	603	17282											
CLTCL1	0	.	GRCh38	chr22	19191416	19191416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaactgcagggctctgtaaCagagctcgacgttggcaacc	11	7	12	11	2	1	2	0	0	1	2	2	3	1	2	1	2	5	6	1	2	3	2	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.4211G>C	p.Cys1404Ser	p.C1404S	ENST00000427926	27/33	191	154	37	203	203	0	strelka-varscan-mutect	CLTCL1,missense_variant,p.Cys1404Ser,ENST00000427926,NM_007098.3;CLTCL1,missense_variant,p.Cys1404Ser,ENST00000621271,NM_001835.3;CLTCL1,missense_variant,p.Cys227Ser,ENST00000622493,;CLTCL1,missense_variant,p.Cys227Ser,ENST00000617926,;CLTCL1,3_prime_UTR_variant,,ENST00000617103,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000615606,;CLTCL1,downstream_gene_variant,,ENST00000611723,;CLTCL1,upstream_gene_variant,,ENST00000538828,;	G	ENST00000427926	Transcript	missense_variant	4284/5513	4211/4923	1404/1640	C/S	tGt/tCt		1		-1	CLTCL1	HGNC	HGNC:2093	protein_coding	YES	CCDS46662.2	ENSP00000441158	P53675		UPI0000127ABE	NM_007098.3	deleterious(0.01)		27/33		PROSITE_profiles:PS50236,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,Gene3D:1.25.40.10,Pfam_domain:PF00637,PIRSF_domain:PIRSF002290,SMART_domains:SM00299,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	19191416	19191416	C	G	1	0	0	0	0	1	0	0	0	3339	478	17	4		4	CLTCL1	22	19191416	Missense_Mutation	SNP	C	C3N-00551_TP		19191416	31627052	604	17283											
BCR	0	.	GRCh38	chr22	23289560	23289560	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtggagctgcagatgctGaccaactcgtgtgtgaaact	9	10	12	10	2	0	3	0	2	0	1	2	4	1	4	2	1	5	3	2	1	2	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2646G>T	p.=	p.L882L	ENST00000305877	13/23	187	174	13	209	209	0	strelka-varscan-mutect	BCR,missense_variant,p.Asp448Tyr,ENST00000398512,;BCR,synonymous_variant,p.=,ENST00000305877,NM_004327.3;BCR,synonymous_variant,p.=,ENST00000359540,NM_021574.2;BCR,downstream_gene_variant,,ENST00000427791,;BCR,upstream_gene_variant,,ENST00000419722,;BCR,non_coding_transcript_exon_variant,,ENST00000487968,;BCR,downstream_gene_variant,,ENST00000466076,;	T	ENST00000305877	Transcript	synonymous_variant	3397/7082	2646/3816	882/1271	L	ctG/ctT		1		1	BCR	HGNC	HGNC:1014	protein_coding	YES	CCDS13806.1	ENSP00000303507	P11274		UPI000016A088	NM_004327.3			13/23		PROSITE_profiles:PS50004,hmmpanther:PTHR23182,hmmpanther:PTHR23182:SF3																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	23289560	23289560	G	T	1	0	0	0	0	0	0	0	1	1535	1290	45	2		2	BCR	22	23289560	Silent	SNP	G	C3N-00551_TP	4098144	23289560	27528908	605	17284											
PES1	0	.	GRCh38	chr22	30578975	30578975	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttatcctccagcttcaaGgtgcctgccatcaccctggg	6	11	9	15	0	2	0	2	0	0	0	4	0	4	0	5	2	4	2	5	2	2	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1545C>T	p.=	p.T515T	ENST00000354694	14/15	132	110	22	105	105	0	strelka-mutect	PES1,synonymous_variant,p.=,ENST00000402281,NM_001282327.1;PES1,synonymous_variant,p.=,ENST00000405677,NM_001282328.1;PES1,synonymous_variant,p.=,ENST00000354694,NM_014303.3;PES1,synonymous_variant,p.=,ENST00000402284,;PES1,synonymous_variant,p.=,ENST00000335214,NM_001243225.1;PES1,synonymous_variant,p.=,ENST00000441668,;GAL3ST1,upstream_gene_variant,,ENST00000406361,NM_001318104.1,NM_001318113.1;GAL3ST1,upstream_gene_variant,,ENST00000402369,NM_001318103.1,NM_001318109.1;PES1,downstream_gene_variant,,ENST00000406208,;GAL3ST1,upstream_gene_variant,,ENST00000431313,;PES1,non_coding_transcript_exon_variant,,ENST00000488719,;	A	ENST00000354694	Transcript	synonymous_variant	1652/2295	1545/1767	515/588	T	acC/acT		1		-1	PES1	HGNC	HGNC:8848	protein_coding	YES	CCDS13880.1	ENSP00000346725	O00541	B2RDF2	UPI0000001618	NM_014303.3			14/15		HAMAP:MF_03028,hmmpanther:PTHR12221																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	53	30578975	30578975	G	A	1	0	0	0	0	0	0	0	1	11822	987	35	3		3	PES1	22	30578975	Silent	SNP	G	C3N-00551_TP	7289415	30578975	20239493	606	17285											
CELSR1	0	.	GRCh38	chr22	46464000	46464000	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgaagggcagcacgcgcTgcgtggagatggtggtcagc	7	6	18	10	5	1	1	1	0	0	1	2	3	1	1	0	4	3	3	0	4	1	0	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.3890A>T	p.Gln1297Leu	p.Q1297L	ENST00000262738	2/35	347	236	111	314	314	0	strelka-varscan-mutect	CELSR1,missense_variant,p.Gln1297Leu,ENST00000262738,NM_014246.1;CELSR1,missense_variant,p.Gln672Leu,ENST00000454637,;	A	ENST00000262738	Transcript	missense_variant	3890/11389	3890/9045	1297/3014	Q/L	cAg/cTg		1		-1	CELSR1	HGNC	HGNC:1850	protein_coding	YES	CCDS14076.1	ENSP00000262738	Q9NYQ6		UPI0000040648	NM_014246.1	tolerated(1)		2/35		hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF36																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	46464000	46464000	T	A	1	0	0	0	0	1	0	0	0	2928	1580	55	4		4	CELSR1	22	46464000	Missense_Mutation	SNP	T	C3N-00551_TP	15885025	46464000	4354468	607	17286											
TBC1D22A	0	.	GRCh38	chr22	46891292	46891292	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcccgccaatgtagaccgGagaccagccactctccagag	10	6	9	16	2	1	3	0	0	1	3	3	4	2	3	6	1	1	1	6	1	2	2	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.735G>T	p.=	p.R245R	ENST00000337137	6/13	126	92	34	158	156	2	strelka-varscan-mutect	TBC1D22A,synonymous_variant,p.=,ENST00000380995,NM_001284304.1;TBC1D22A,synonymous_variant,p.=,ENST00000337137,NM_014346.3;TBC1D22A,synonymous_variant,p.=,ENST00000406733,NM_001284305.1;TBC1D22A,synonymous_variant,p.=,ENST00000407381,;TBC1D22A,synonymous_variant,p.=,ENST00000355704,NM_001284303.1;TBC1D22A,stop_gained,p.Glu222Ter,ENST00000394449,;TBC1D22A,synonymous_variant,p.=,ENST00000441162,;	T	ENST00000337137	Transcript	synonymous_variant	901/3787	735/1554	245/517	R	cgG/cgT		1		1	TBC1D22A	HGNC	HGNC:1309	protein_coding	YES	CCDS14078.1	ENSP00000336724	Q8WUA7		UPI0000128722	NM_014346.3			6/13		PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF255,Gene3D:2qq8A02,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	46891292	46891292	G	T	1	0	0	0	0	0	0	0	1	16011	1161	41	2		2	TBC1D22A	22	46891292	Silent	SNP	G	C3N-00551_TP	427292	46891292	3927176	608	17287											
ARSF	0	.	GRCh38	chrX	3112316	3112316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgctcttcgatctctccagGgacccctcagagtccacacc	7	9	7	18	1	3	1	1	0	2	1	7	3	5	2	5	1	1	1	5	1	0	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.1533G>T	p.Arg511Ser	p.R511S	ENST00000381127	11/11	102	76	26	118	118	0	strelka-varscan-mutect	ARSF,missense_variant,p.Arg511Ser,ENST00000381127,NM_001201538.1,NM_001201539.1;ARSF,missense_variant,p.Arg511Ser,ENST00000359361,NM_004042.4;RP13-824C8.2,downstream_gene_variant,,ENST00000443851,;	T	ENST00000381127	Transcript	missense_variant	1754/2164	1533/1773	511/590	R/S	agG/agT		1		1	ARSF	HGNC	HGNC:721	protein_coding	YES	CCDS14123.1	ENSP00000370519	P54793		UPI00001A9629	NM_001201538.1,NM_001201539.1	tolerated(0.17)		11/11		hmmpanther:PTHR10342:SF220,hmmpanther:PTHR10342,Pfam_domain:PF14707,Gene3D:3.30.1120.10,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	3112316	3112316	G	T	1	0	0	0	0	1	0	0	0	1134	1223	43	2		2	ARSF	23	3112316	Missense_Mutation	SNP	G	C3N-00551_TP		3112316	152928579	609	17288											
MXRA5	0	.	GRCh38	chrX	3323748	3323748	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacacatctgtagtaaccaCtgtcactgacttggaccttt	10	12	6	13	0	2	1	1	1	1	0	2	2	2	2	3	1	1	2	3	1	2	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1937G>T	p.Ser646Ile	p.S646I	ENST00000217939	5/7	61	46	15	61	61	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Ser646Ile,ENST00000217939,NM_015419.3;	A	ENST00000217939	Transcript	missense_variant	2092/9793	1937/8487	646/2828	S/I	aGt/aTt		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	deleterious(0.01)		5/7		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	53	3323748	3323748	C	A	1	0	0	0	0	1	0	0	0	10002	565	20	2		2	MXRA5	23	3323748	Missense_Mutation	SNP	C	C3N-00551_TP	211432	3323748	152717147	610	17289											
EGFL6	0	.	GRCh38	chrX	13617825	13617825	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcacaaaaacagcatgaaaAagaaggcaaaaattaaaaat	25	5	5	6	0	1	2	1	1	0	1	1	2	1	2	0	1	2	2	0	1	10	1	novel		C3N-00551_TP	C3N-00551_NB	A	A																c.874A>G	p.Lys292Glu	p.K292E	ENST00000380602	8/12	172	130	42	141	141	0	strelka-varscan-mutect	EGFL6,missense_variant,p.Lys292Glu,ENST00000361306,NM_015507.3;EGFL6,missense_variant,p.Lys292Glu,ENST00000380602,NM_001167890.1;	G	ENST00000380602	Transcript	missense_variant	1114/2385	874/1665	292/554	K/E	Aag/Gag		1		1	EGFL6	HGNC	HGNC:3235	protein_coding	YES	CCDS55370.1	ENSP00000369976	Q8IUX8		UPI0000034CAE	NM_001167890.1	tolerated(0.09)		8/12		hmmpanther:PTHR24050,hmmpanther:PTHR24050:SF18,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	53	13617825	13617825	A	G	1	0	0	0	0	1	0	0	0	4799	15	1	5		5	EGFL6	23	13617825	Missense_Mutation	SNP	A	C3N-00551_TP	10294077	13617825	142423070	611	17290											
GRPR	0	.	GRCh38	chrX	16150538	16150538	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattctatggcttcctttcTggtcttctacgtcattccac	5	17	5	14	1	5	0	1	0	4	0	7	0	7	0	3	2	1	1	3	2	2	7	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.647T>A	p.Leu216Gln	p.L216Q	ENST00000380289	2/3	174	123	51	224	224	0	strelka-varscan-mutect	GRPR,missense_variant,p.Leu216Gln,ENST00000380289,NM_005314.2;RP11-431J24.2,downstream_gene_variant,,ENST00000435789,;RP11-431J24.2,downstream_gene_variant,,ENST00000454712,;RP11-431J24.2,downstream_gene_variant,,ENST00000422438,;	A	ENST00000380289	Transcript	missense_variant	1045/1929	647/1155	216/384	L/Q	cTg/cAg		1		1	GRPR	HGNC	HGNC:4609	protein_coding	YES	CCDS14174.1	ENSP00000369643	P30550	X5D7H2	UPI00000503FE	NM_005314.2	deleterious(0)		2/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF116,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	16150538	16150538	T	A	1	0	0	0	0	1	0	0	0	6690	1580	55	4		4	GRPR	23	16150538	Missense_Mutation	SNP	T	C3N-00551_TP	2532713	16150538	139890357	612	17291											
NHS	0	.	GRCh38	chrX	17726789	17726789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctgcctcttgatttcGccaacacgccttctcgaatg	8	12	8	13	3	2	2	0	2	2	0	4	3	2	2	3	0	3	1	3	0	3	3	rs770236873		C3N-00551_TP	C3N-00551_NB	G	G																c.2620G>A	p.Ala874Thr	p.A874T	ENST00000380060	6/8	123	109	14	103	103	0	strelka-varscan-mutect	NHS,missense_variant,p.Ala715Thr,ENST00000615422,;NHS,missense_variant,p.Ala874Thr,ENST00000380060,NM_198270.3,NM_001291867.1;NHS,missense_variant,p.Ala718Thr,ENST00000398097,NM_001136024.3;NHS,missense_variant,p.Ala691Thr,ENST00000617601,NM_001291868.1;NHS,downstream_gene_variant,,ENST00000485305,;	A	ENST00000380060	Transcript	missense_variant	2958/8761	2620/4893	874/1630	A/T	Gcc/Acc	rs770236873,COSM302749,COSM302750	1		1	NHS	HGNC	HGNC:7820	protein_coding	YES	CCDS14181.1	ENSP00000369400	Q6T4R5		UPI00001DFBF3	NM_198270.3,NM_001291867.1	deleterious(0.02)		6/8		Pfam_domain:PF15273,hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF5											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs770236873	.												A	3	1	53	17726789	17726789	G	A	1	0	0	0	0	1	0	0	0	10443	1087	38	1		1	NHS	23	17726789	Missense_Mutation	SNP	G	C3N-00551_TP	1576251	17726789	138314106	613	17292											
CXorf23	0	.	GRCh38	chrX	19965277	19965277	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagtacaggcaatgctgtcTttcttagacggtttaaaagg	12	13	10	6	1	2	1	0	0	2	1	2	1	2	1	0	3	2	4	0	3	6	6	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.1041A>T	p.Lys347Asn	p.K347N	ENST00000379687	3/11	104	67	37	115	115	0	strelka-varscan-mutect	CXorf23,missense_variant,p.Lys347Asn,ENST00000379687,NM_198279.3;CXorf23,missense_variant,p.Lys347Asn,ENST00000379682,;CXorf23,upstream_gene_variant,,ENST00000340625,;CXorf23,5_prime_UTR_variant,,ENST00000472158,;	A	ENST00000379687	Transcript	missense_variant	1075/6528	1041/2049	347/682	K/N	aaA/aaT		1		-1	CXorf23	HGNC	HGNC:27413	protein_coding	YES	CCDS14194.2	ENSP00000369009	A2AJT9		UPI0000458B03	NM_198279.3	deleterious(0)		3/11		Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF17																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	53	19965277	19965277	T	A	1	0	0	0	0	1	0	0	0	3911	1606	56	4		4	CXorf23	23	19965277	Missense_Mutation	SNP	T	C3N-00551_TP	2238488	19965277	136075618	614	17293											
PCYT1B	0	.	GRCh38	chrX	24590142	24590142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcatcacggtgaaacCtttgaatttgtgggtgagat	10	15	10	6	1	3	3	3	3	0	1	3	4	3	3	1	2	1	0	1	2	2	4	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.367G>T	p.Gly123Cys	p.G123C	ENST00000379144	4/8	90	62	28	101	101	0	strelka-varscan-mutect	PCYT1B,missense_variant,p.Gly105Cys,ENST00000379145,NM_001163264.1;PCYT1B,missense_variant,p.Gly123Cys,ENST00000379144,NM_004845.4;PCYT1B,missense_variant,p.Gly123Cys,ENST00000356768,NM_001163265.1;PCYT1B,missense_variant,p.Gly97Cys,ENST00000496020,;	A	ENST00000379144	Transcript	missense_variant	498/1692	367/1110	123/369	G/C	Ggt/Tgt		1		-1	PCYT1B	HGNC	HGNC:8755	protein_coding	YES	CCDS14213.1	ENSP00000368439	Q9Y5K3		UPI000012864E	NM_004845.4	deleterious(0)		4/8		Gene3D:3.40.50.620,Pfam_domain:PF01467,hmmpanther:PTHR10739,hmmpanther:PTHR10739:SF20,Superfamily_domains:SSF52374,TIGRFAM_domain:TIGR00125																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	24590142	24590142	C	A	1	0	0	0	0	1	0	0	0	11699	681	24	2		2	PCYT1B	23	24590142	Missense_Mutation	SNP	C	C3N-00551_TP	4624865	24590142	131450753	615	17294											
POLA1	0	.	GRCh38	chrX	24726054	24726054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacttggaagttaaatactCggtaagtcaaacaaagaaaa	19	9	8	5	1	1	1	1	0	0	1	2	2	1	2	0	2	3	3	0	2	10	5	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1373C>T	p.Ser458Leu	p.S458L	ENST00000379059	13/37	62	44	18	77	77	0	strelka-mutect	POLA1,missense_variant,p.Ser464Leu,ENST00000379068,;POLA1,missense_variant,p.Ser458Leu,ENST00000379059,NM_016937.3;POLA1,missense_variant,p.Ser458Leu,ENST00000611764,;POLA1,upstream_gene_variant,,ENST00000493342,;	T	ENST00000379059	Transcript	missense_variant,splice_region_variant	1388/5440	1373/4389	458/1462	S/L	tCg/tTg		1		1	POLA1	HGNC	HGNC:9173	protein_coding	YES	CCDS14214.1	ENSP00000368349	P09884		UPI000014D383	NM_016937.3	tolerated(0.08)		13/37		hmmpanther:PTHR10322:SF21,hmmpanther:PTHR10322,TIGRFAM_domain:TIGR00592,Pfam_domain:PF03104,Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	24726054	24726054	C	T	1	0	0	0	0	1	0	0	0	12297	898	31	1		1	POLA1	23	24726054	Missense_Mutation	SNP	C	C3N-00551_TP	135912	24726054	131314841	616	17295											
FAM47B	0	.	GRCh38	chrX	34943994	34943994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttgggaatcctgtccgcGgccttttgagagtcggatgc	5	14	13	9	3	0	1	0	1	0	1	3	4	2	3	3	3	1	0	3	3	1	4	rs202142258		C3N-00551_TP	C3N-00551_NB	G	G																c.1163G>T	p.Arg388Leu	p.R388L	ENST00000329357	1/1	160	118	42	229	229	0	strelka-varscan-mutect	FAM47B,missense_variant,p.Arg388Leu,ENST00000329357,NM_152631.2;	T	ENST00000329357	Transcript	missense_variant	1199/2120	1163/1938	388/645	R/L	cGg/cTg	rs202142258,COSM1557692	1		1	FAM47B	HGNC	HGNC:26659	protein_coding	YES	CCDS14236.1	ENSP00000328307	Q8NA70		UPI000013F47B	NM_152631.2	tolerated(0.06)		1/1		Pfam_domain:PF14642,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF192											0,1						MODERATE	1	SNV			0,1	1										PASS		rs202142258	.												T	3	4	53	34943994	34943994	G	T	1	0	0	0	0	1	0	0	0	5448	1116	39	1		1	FAM47B	23	34943994	Missense_Mutation	SNP	G	C3N-00551_TP	10217940	34943994	121096901	617	17296											
KDM5C	0	.	GRCh38	chrX	53196816	53196816	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccgcgaccaacagtcctcGcatgacagccaaggtgcccc	10	4	9	18	3	0	1	0	1	0	0	2	2	1	1	6	1	3	1	6	1	2	0	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.2851C>T	p.Arg951Ter	p.R951*	ENST00000375401	19/26	184	146	38	212	212	0	strelka-varscan-mutect	KDM5C,stop_gained,p.Arg884Ter,ENST00000452825,NM_001146702.1;KDM5C,stop_gained,p.Arg951Ter,ENST00000375401,NM_004187.3;KDM5C,stop_gained,p.Arg950Ter,ENST00000404049,NM_001282622.1;KDM5C,stop_gained,p.Arg951Ter,ENST00000375379,;KDM5C,stop_gained,p.Arg910Ter,ENST00000375383,;MIR6895,upstream_gene_variant,,ENST00000613497,;MIR6894,downstream_gene_variant,,ENST00000622662,;KDM5C,downstream_gene_variant,,ENST00000465402,;KDM5C,downstream_gene_variant,,ENST00000477109,;KDM5C,downstream_gene_variant,,ENST00000497100,;KDM5C,downstream_gene_variant,,ENST00000481369,;	A	ENST00000375401	Transcript	stop_gained	3384/6031	2851/4683	951/1560	R/*	Cga/Tga		1		-1	KDM5C	HGNC	HGNC:11114	protein_coding	YES	CCDS14351.1	ENSP00000364550	P41229		UPI000013CBE3	NM_004187.3			19/26		Pfam_domain:PF08429,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF43																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	53	53196816	53196816	G	A	1	0	0	0	0	0	1	0	0	8053	1095	38	1		1	KDM5C	23	53196816	Nonsense_Mutation	SNP	G	C3N-00551_TP	18252822	53196816	102844079	618	17297											
HUWE1	0	.	GRCh38	chrX	53603411	53603411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggacagtgctttcccacaCcagggaacagtataactggc	12	7	11	11	0	0	0	0	0	0	0	1	3	1	2	2	3	3	2	2	3	3	3	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.2833G>T	p.Val945Leu	p.V945L	ENST00000342160	26/83	138	99	39	201	201	0	strelka-varscan-mutect	HUWE1,missense_variant,p.Val945Leu,ENST00000342160,;HUWE1,missense_variant,p.Val945Leu,ENST00000262854,NM_031407.6;HUWE1,missense_variant,p.Val945Leu,ENST00000612484,;HUWE1,non_coding_transcript_exon_variant,,ENST00000218328,;	A	ENST00000342160	Transcript	missense_variant	3291/14796	2833/13125	945/4374	V/L	Gtg/Ttg		1		-1	HUWE1	HGNC	HGNC:30892	protein_coding	YES	CCDS35301.1	ENSP00000340648	Q7Z6Z7	A0A024R9W5	UPI00004A0DAC		deleterious(0)		26/83		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF291																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	53	53603411	53603411	C	A	1	0	0	0	0	1	0	0	0	7357	507	18	2		2	HUWE1	23	53603411	Missense_Mutation	SNP	C	C3N-00551_TP	406595	53603411	102437484	619	17298											
ZXDB	0	.	GRCh38	chrX	57593058	57593058	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcggccctttggctgccCggcagagggctgtggcaaga	6	7	16	12	2	0	2	0	0	0	2	0	2	0	2	2	5	2	4	2	5	1	1	rs769580805		C3N-00551_TP	C3N-00551_NB	C	C																c.1010C>A	p.Pro337Gln	p.P337Q	ENST00000374888	1/1	148	120	28	174	174	0	strelka-varscan-mutect	ZXDB,missense_variant,p.Pro337Gln,ENST00000374888,NM_007157.3;	A	ENST00000374888	Transcript	missense_variant	1407/5894	1010/2412	337/803	P/Q	cCg/cAg	rs769580805	1		1	ZXDB	HGNC	HGNC:13199	protein_coding	YES	CCDS35313.1	ENSP00000364023	P98169		UPI000013C495	NM_007157.3	tolerated(0.21)		1/1		PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF85,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV				1										PASS		rs769580805	.												A	3	1	53	57593058	57593058	C	A	1	0	0	0	0	1	0	0	0	18854	652	23	1		1	ZXDB	23	57593058	Missense_Mutation	SNP	C	C3N-00551_TP	3989647	57593058	98447837	620	17299											
ZC4H2	0	.	GRCh38	chrX	64917826	64917826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttttggggttccgggacCgactcttggccttgcaaaga	6	12	13	10	2	1	1	0	0	1	1	2	3	2	2	3	4	1	3	3	4	1	5			C3N-00551_TP	C3N-00551_NB	C	C																c.632G>A	p.Arg211Gln	p.R211Q	ENST00000374839	5/5	150	139	11	165	165	0	strelka-varscan-mutect	ZC4H2,missense_variant,p.Gly157Ser,ENST00000447788,NM_001178033.2;ZC4H2,missense_variant,p.Arg188Gln,ENST00000337990,NM_001178032.2,NM_001243804.1;ZC4H2,missense_variant,p.Arg211Gln,ENST00000374839,NM_018684.3;ZC4H2,non_coding_transcript_exon_variant,,ENST00000488608,;ZC4H2,non_coding_transcript_exon_variant,,ENST00000492653,;ZC4H2,non_coding_transcript_exon_variant,,ENST00000488406,;ZC4H2,downstream_gene_variant,,ENST00000476032,;ZC4H2,downstream_gene_variant,,ENST00000488831,;	T	ENST00000374839	Transcript	missense_variant	739/2184	632/675	211/224	R/Q	cGg/cAg	COSM1151685,COSM757874	1		-1	ZC4H2	HGNC	HGNC:24931	protein_coding	YES	CCDS14380.1	ENSP00000363972	Q9NQZ6		UPI0000025CAA	NM_018684.3	deleterious(0)		5/5		Pfam_domain:PF10146,hmmpanther:PTHR31058,Low_complexity_(Seg):seg											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	53	64917826	64917826	C	T	1	0	0	0	0	1	0	0	0	18153	652	23	1		1	ZC4H2	23	64917826	Missense_Mutation	SNP	C	C3N-00551_TP	7324768	64917826	91123069	621	17300											
RP11-69A21.2	0	.	GRCh38	chrX	72807565	72807565	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcagattccgagtgcccGgtatcctcccctagggagga	7	9	12	13	2	1	1	1	0	1	1	5	4	4	3	5	3	1	1	5	3	2	3	rs5938971		C3N-00551_TP	C3N-00551_NB	G	G																c.223C>A	p.=	p.R75R	ENST00000419795	3/3	99	73	26	130	130	0	strelka-varscan-mutect	RP11-69A21.2,synonymous_variant,p.=,ENST00000458170,;RP11-69A21.2,synonymous_variant,p.=,ENST00000419795,;DMRTC1B,intron_variant,,ENST00000334036,;DMRTC1B,intron_variant,,ENST00000472595,;	T	ENST00000419795	Transcript	synonymous_variant	293/433	223/240	75/79	R	Cgg/Agg	rs5938971	1		-1	RP11-69A21.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000489739							3/3																			LOW	1	SNV	5			1										PASS		rs5938971	.												T	2	4	53	72807565	72807565	G	T	1	0	0	0	0	0	0	0	1	13757	1115	39	1		1	RP11-69A21.2	23	72807565	Silent	SNP	G	C3N-00551_TP	7889739	72807565	83233330	622	17301											
GPR174	0	.	GRCh38	chrX	79171704	79171704	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaagccttgaagatgattCtaacctgtgcaggggtattc	12	11	11	7	0	1	4	0	2	1	2	2	4	1	4	2	2	3	2	2	2	4	5	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.697C>G	p.Leu233Val	p.L233V	ENST00000276077	1/1	96	73	23	139	139	0	strelka-varscan-mutect	GPR174,missense_variant,p.Leu233Val,ENST00000276077,NM_032553.1;	G	ENST00000276077	Transcript	missense_variant	733/1258	697/1002	233/333	L/V	Cta/Gta		1		1	GPR174	HGNC	HGNC:30245	protein_coding	YES	CCDS14443.1	ENSP00000276077	Q9BXC1		UPI0000050477	NM_032553.1	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF4,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	53	79171704	79171704	C	G	1	0	0	0	0	1	0	0	0	6556	912	32	4		4	GPR174	23	79171704	Missense_Mutation	SNP	C	C3N-00551_TP	6364139	79171704	76869191	623	17302											
TMEM31	0	.	GRCh38	chrX	103713850	103713850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcccagatggaaaagatcgGactgcccatcatactccacc	13	6	8	14	1	1	2	1	0	0	2	3	4	2	4	4	2	3	0	4	2	3	1	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.359G>T	p.Gly120Val	p.G120V	ENST00000319560	3/3	176	129	47	184	184	0	strelka-varscan-mutect	TMEM31,missense_variant,p.Gly120Val,ENST00000319560,NM_182541.2;GLRA4,intron_variant,,ENST00000372617,NM_001024452.2;GLRA4,intron_variant,,ENST00000436213,;GLRA4,downstream_gene_variant,,ENST00000480725,;	T	ENST00000319560	Transcript	missense_variant	550/728	359/507	120/168	G/V	gGa/gTa		1		1	TMEM31	HGNC	HGNC:28601	protein_coding	YES	CCDS35359.1	ENSP00000316940	Q5JXX7	A0A140VK58	UPI0000140633	NM_182541.2	tolerated_low_confidence(0.07)		3/3		Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	103713850	103713850	G	T	1	0	0	0	0	1	0	0	0	16631	1174	41	2		2	TMEM31	23	103713850	Missense_Mutation	SNP	G	C3N-00551_TP	24542146	103713850	52327045	624	17303											
RGAG1	0	.	GRCh38	chrX	110454310	110454310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatatgactccctatctgaGatagacatcctcagtgctgt	11	13	7	10	0	2	3	1	2	1	2	4	4	4	3	2	0	1	1	2	0	4	4	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.3693G>T	p.Glu1231Asp	p.E1231D	ENST00000465301	3/4	100	68	32	113	113	0	strelka-varscan-mutect	RGAG1,missense_variant,p.Glu1231Asp,ENST00000465301,NM_020769.2;RGAG1,missense_variant,p.Glu1231Asp,ENST00000540313,;RGAG1,downstream_gene_variant,,ENST00000520821,;	T	ENST00000465301	Transcript	missense_variant	3939/5426	3693/4167	1231/1388	E/D	gaG/gaT		1		1	RGAG1	HGNC	HGNC:29245	protein_coding	YES	CCDS14552.1	ENSP00000419786	Q8NET4		UPI000006F841	NM_020769.2	tolerated_low_confidence(0.12)		3/4		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF48																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	53	110454310	110454310	G	T	1	0	0	0	0	1	0	0	0	13446	933	33	2		2	RGAG1	23	110454310	Missense_Mutation	SNP	G	C3N-00551_TP	6740460	110454310	45586585	625	17304											
ADGRG4	0	.	GRCh38	chrX	136350303	136350303	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttccactcatatccactggGgtgacatatccttttacagc	9	14	6	12	0	1	1	1	1	0	0	4	1	4	1	3	2	2	0	3	2	3	5	novel		C3N-00551_TP	C3N-00551_NB	G	G																c.6597G>T	p.=	p.G2199G	ENST00000394143	6/26	124	93	31	170	170	0	strelka-varscan-mutect	ADGRG4,synonymous_variant,p.=,ENST00000394143,NM_153834.3;ADGRG4,synonymous_variant,p.=,ENST00000370652,;ADGRG4,synonymous_variant,p.=,ENST00000394141,;	T	ENST00000394143	Transcript	synonymous_variant	6888/9931	6597/9243	2199/3080	G	ggG/ggT		1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3			6/26																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	53	136350303	136350303	G	T	1	0	0	0	0	0	0	0	1	371	1219	43	2		2	ADGRG4	23	136350303	Silent	SNP	G	C3N-00551_TP	25895993	136350303	19690592	626	17305											
SOX3	0	.	GRCh38	chrX	140503878	140503878	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatgtcgcgcaggtcgcCgaggcacgcgcgctgagagt	7	6	16	12	7	1	1	1	1	0	1	3	4	1	1	1	2	0	3	1	2	0	0	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1183G>C	p.Gly395Arg	p.G395R	ENST00000370536	1/1	85	68	17	84	84	0	strelka-varscan-mutect	SOX3,missense_variant,p.Gly395Arg,ENST00000370536,NM_005634.2;	G	ENST00000370536	Transcript	missense_variant	1239/2132	1183/1341	395/446	G/R	Ggc/Cgc		1		-1	SOX3	HGNC	HGNC:11199	protein_coding	YES	CCDS14669.1	ENSP00000359567	P41225		UPI000006F00F	NM_005634.2	deleterious(0)		1/1		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF111																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	53	140503878	140503878	C	G	1	0	0	0	0	1	0	0	0	15277	652	23	4		4	SOX3	23	140503878	Missense_Mutation	SNP	C	C3N-00551_TP	4153575	140503878	15537017	627	17306											
MAGEC1	0	.	GRCh38	chrX	141908324	141908324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtggaccctgatgactccTatgtctttgtaaacacatta	12	13	7	9	0	1	2	0	2	1	0	2	3	2	3	2	1	1	1	2	1	5	4	novel		C3N-00551_TP	C3N-00551_NB	T	T																c.2920T>C	p.Tyr974His	p.Y974H	ENST00000285879	4/4	113	86	27	119	119	0	strelka-varscan-mutect	MAGEC1,missense_variant,p.Tyr974His,ENST00000285879,NM_005462.4;MAGEC1,missense_variant,p.Tyr41His,ENST00000406005,;	C	ENST00000285879	Transcript	missense_variant	3206/4270	2920/3429	974/1142	Y/H	Tat/Cat		1		1	MAGEC1	HGNC	HGNC:6812	protein_coding	YES	CCDS35417.1	ENSP00000285879	O60732		UPI000006F2FD	NM_005462.4	deleterious(0)		4/4		Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF17,SMART_domains:SM01373																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	53	141908324	141908324	T	C	1	0	0	0	0	1	0	0	0	9098	1522	53	5		5	MAGEC1	23	141908324	Missense_Mutation	SNP	T	C3N-00551_TP	1404446	141908324	14132571	628	17307											
AFF2	0	.	GRCh38	chrX	148953579	148953579	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatgttgtttttctttcaGcccacccttggccactcccc	5	16	5	15	0	2	0	1	0	1	0	3	0	3	0	5	1	1	2	5	1	1	6			C3N-00551_TP	C3N-00551_NB	G	G																c.1398-1G>T		p.X466_splice	ENST00000370460		41	27	14	53	53	0	strelka-varscan-mutect	AFF2,splice_acceptor_variant,,ENST00000370460,NM_001169123.1,NM_002025.3;AFF2,splice_acceptor_variant,,ENST00000286437,NM_001170628.1;AFF2,splice_acceptor_variant,,ENST00000342251,NM_001169122.1;AFF2,splice_acceptor_variant,,ENST00000370457,NM_001169124.1,NM_001169125.1;	T	ENST00000370460	Transcript	splice_acceptor_variant	-/13746	1398/3936	466/1311			COSM5153673,COSM5153674,COSM5153675	1		1	AFF2	HGNC	HGNC:3776	protein_coding	YES	CCDS14684.1	ENSP00000359489	P51816		UPI000049E130	NM_001169123.1,NM_002025.3				9/20												1,1,1						HIGH	1	SNV	5		1,1,1	1										PASS		.	.												T	5	4	53	148953579	148953579	G	T	1	0	0	0	0	0	0	1	0	434	985	34	2		2	AFF2	23	148953579	Splice_Site	SNP	G	C3N-00551_TP	7045255	148953579	7087316	629	17308											
CXorf40B	0	.	GRCh38	chrX	149933794	149933794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggctgctcagcagaggacgCcagcgcgtctccacagtctt	7	8	12	14	3	3	1	1	0	2	1	4	2	3	2	2	2	3	3	2	2	0	1	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.81G>T	p.Trp27Cys	p.W27C	ENST00000370406	4/5	179	115	64	188	188	0	strelka-varscan-mutect	CXorf40B,missense_variant,p.Trp27Cys,ENST00000370406,;CXorf40B,missense_variant,p.Trp27Cys,ENST00000462691,;CXorf40B,missense_variant,p.Trp27Cys,ENST00000370404,NM_001013845.1;CXorf40B,missense_variant,p.Trp27Cys,ENST00000370409,;CXorf40B,missense_variant,p.Trp27Cys,ENST00000355203,;CXorf40B,missense_variant,p.Trp27Cys,ENST00000483447,;XX-FW81066F1.2,downstream_gene_variant,,ENST00000457775,;LINC00894,upstream_gene_variant,,ENST00000449111,;CXorf40B,downstream_gene_variant,,ENST00000497550,;	A	ENST00000370406	Transcript	missense_variant	910/1653	81/477	27/158	W/C	tgG/tgT		1		-1	CXorf40B	HGNC	HGNC:17402	protein_coding	YES	CCDS35426.1	ENSP00000359434	Q96DE9		UPI0000072E4A		deleterious(0.03)		4/5		Gene3D:2.30.130.30,hmmpanther:PTHR31666,hmmpanther:PTHR31666:SF0,SMART_domains:SM01022,Superfamily_domains:SSF88697																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	53	149933794	149933794	C	A	1	0	0	0	0	1	0	0	0	3915	740	26	2		2	CXorf40B	23	149933794	Missense_Mutation	SNP	C	C3N-00551_TP	980215	149933794	6107101	630	17309											
GABRQ	0	.	GRCh38	chrX	152652829	152652829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattattcctaccgaaatcCgcaaccgtgtcgaagcccat	11	10	7	13	4	0	0	0	0	0	0	3	2	2	0	5	0	3	2	5	0	6	4	rs782062554		C3N-00551_TP	C3N-00551_NB	C	C																c.1447C>A	p.Arg483Ser	p.R483S	ENST00000598523	9/9	161	125	36	187	187	0	strelka-varscan-mutect	GABRQ,missense_variant,p.Arg483Ser,ENST00000598523,NM_018558.3;	A	ENST00000598523	Transcript	missense_variant	1467/6172	1447/1899	483/632	R/S	Cgc/Agc	rs782062554,COSM4762628	1		1	GABRQ	HGNC	HGNC:14454	protein_coding	YES	CCDS14707.1	ENSP00000469332	Q9UN88		UPI000013DAC0	NM_018558.3	tolerated(0.39)		9/9		Prints_domain:PR01725											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs782062554	.												A	3	1	53	152652829	152652829	C	A	1	0	0	0	0	1	0	0	0	6046	652	23	1		1	GABRQ	23	152652829	Missense_Mutation	SNP	C	C3N-00551_TP	2719035	152652829	3388066	631	17310											
GABRQ	0	.	GRCh38	chrX	152653164	152653164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccttcactgaagggttCtccttcgatctctttaatcc	6	16	6	13	1	3	1	1	1	2	0	8	2	5	1	3	1	1	2	3	1	2	5	novel		C3N-00551_TP	C3N-00551_NB	C	C																c.1782C>A	p.Phe594Leu	p.F594L	ENST00000598523	9/9	158	113	45	229	229	0	strelka-varscan-mutect	GABRQ,missense_variant,p.Phe594Leu,ENST00000598523,NM_018558.3;	A	ENST00000598523	Transcript	missense_variant	1802/6172	1782/1899	594/632	F/L	ttC/ttA		1		1	GABRQ	HGNC	HGNC:14454	protein_coding	YES	CCDS14707.1	ENSP00000469332	Q9UN88		UPI000013DAC0	NM_018558.3	tolerated(0.32)		9/9		hmmpanther:PTHR18945:SF199,hmmpanther:PTHR18945,Superfamily_domains:SSF90112,Prints_domain:PR01725																	MODERATE	1	SNV	1			1										PASS		rs1235662467	.												A	3	1	53	152653164	152653164	C	A	1	0	0	0	0	1	0	0	0	6046	912	32	2		2	GABRQ	23	152653164	Missense_Mutation	SNP	C	C3N-00551_TP	335	152653164	3387731	632	17311											
ABCD1	0	.	GRCh38	chrX	153736487	153736487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataggccggtctggtgtccGtgtggagggccccctgaaga	6	8	16	11	2	1	2	0	1	1	1	2	3	2	3	4	5	0	0	4	5	2	1	rs782159028		C3N-00551_TP	C3N-00551_NB	G	G																c.1367G>T	p.Arg456Leu	p.R456L	ENST00000218104	4/10	199	153	46	207	207	0	strelka-varscan-mutect	ABCD1,missense_variant,p.Arg456Leu,ENST00000218104,NM_000033.3;U52111.14,intron_variant,,ENST00000434284,;ABCD1,non_coding_transcript_exon_variant,,ENST00000443684,;	T	ENST00000218104	Transcript	missense_variant	1766/3664	1367/2238	456/745	R/L	cGt/cTt	rs782159028,COSM755757	1		1	ABCD1	HGNC	HGNC:61	protein_coding	YES	CCDS14728.1	ENSP00000218104	P33897		UPI0000000DF5	NM_000033.3	tolerated(0.35)		4/10		hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF21,TIGRFAM_domain:TIGR00954											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs782159028	.												T	3	4	53	153736487	153736487	G	T	1	0	0	0	0	1	0	0	0	64	1145	40	1		1	ABCD1	23	153736487	Missense_Mutation	SNP	G	C3N-00551_TP	1083323	153736487	2304408	633	17312											
GPATCH3	0	.	GRCh38	chr1	26900036	26900036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctgcggatgagacagcgaCccggtagccaagtcccgtga	9	6	14	12	4	1	2	0	2	1	1	2	5	2	3	3	2	3	1	3	2	2	1	novel		C3N-00552_TP	C3N-00552_NB	C	C																c.407G>T	p.Gly136Val	p.G136V	ENST00000361720	1/7	255	206	49	199	199	0	strelka-varscan-mutect	GPATCH3,missense_variant,p.Gly136Val,ENST00000361720,NM_022078.2;NUDC,upstream_gene_variant,,ENST00000435827,;	A	ENST00000361720	Transcript	missense_variant	431/2123	407/1578	136/525	G/V	gGt/gTt		1		-1	GPATCH3	HGNC	HGNC:25720	protein_coding	YES	CCDS290.1	ENSP00000354645	Q96I76		UPI000003E830	NM_022078.2	tolerated(0.06)		1/7		hmmpanther:PTHR14390,hmmpanther:PTHR14390:SF2																	MODERATE	1	SNV	1			1										PASS		rs1465844078	.												A	3	1	54	26900036	26900036	C	A	1	0	0	0	0	1	0	0	0	6493	507	18	2		2	GPATCH3	1	26900036	Missense_Mutation	SNP	C	C3N-00552_TP		26900036	222056386	1	17313											
ADGRL4	0	.	GRCh38	chr1	78926918	78926918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatgtaaatgttattttttCaagttcatataatgtgggtg	12	19	8	2	0	2	0	2	0	0	0	2	0	2	0	0	1	0	3	0	1	7	9	novel		C3N-00552_TP	C3N-00552_NB	C	C																c.1051G>A	p.Glu351Lys	p.E351K	ENST00000370742	8/15	107	101	6	186	184	2	varscan-mutect	ADGRL4,missense_variant,p.Glu351Lys,ENST00000370742,NM_022159.3;	T	ENST00000370742	Transcript	missense_variant	1115/3527	1051/2073	351/690	E/K	Gaa/Aaa		1		-1	ADGRL4	HGNC	HGNC:20822	protein_coding	YES	CCDS41352.1	ENSP00000359778	Q9HBW9		UPI00004561FF	NM_022159.3	deleterious(0)		8/15		hmmpanther:PTHR12011:SF59,hmmpanther:PTHR12011																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	54	78926918	78926918	C	T	1	0	0	0	0	1	0	0	0	378	835	29	3		3	ADGRL4	1	78926918	Missense_Mutation	SNP	C	C3N-00552_TP	52026882	78926918	170029504	2	17314											
LRRC8B	0	.	GRCh38	chr1	89583281	89583281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtcattgccctacccacagCcaggtttggagtcagctggc	8	9	11	13	0	2	0	2	0	0	0	2	1	2	1	3	3	4	2	3	3	1	3	novel		C3N-00552_TP	C3N-00552_NB	C	C																c.631C>G	p.Pro211Ala	p.P211A	ENST00000330947	5/6	238	193	45	223	223	0	strelka-varscan-mutect	LRRC8B,missense_variant,p.Pro211Ala,ENST00000330947,NM_001134476.1;LRRC8B,missense_variant,p.Pro211Ala,ENST00000439853,NM_015350.2;LRRC8B,missense_variant,p.Pro211Ala,ENST00000358200,;LRRC8B,downstream_gene_variant,,ENST00000449440,;FLJ27354,non_coding_transcript_exon_variant,,ENST00000443562,;	G	ENST00000330947	Transcript	missense_variant	991/7593	631/2412	211/803	P/A	Cca/Gca		1		1	LRRC8B	HGNC	HGNC:30692	protein_coding	YES	CCDS724.1	ENSP00000332674	Q6P9F7		UPI00000739FF	NM_001134476.1	tolerated(0.55)		5/6		Pfam_domain:PF12534																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	54	89583281	89583281	C	G	1	0	0	0	0	1	0	0	0	8926	739	26	4		4	LRRC8B	1	89583281	Missense_Mutation	SNP	C	C3N-00552_TP	10656363	89583281	159373141	3	17315											
MTR	0	.	GRCh38	chr1	236835585	236835585	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgcaggtggaaatgggAgcccaggtgttggatgtcaa	12	8	16	5	0	1	0	1	0	0	0	1	3	1	3	1	5	2	2	1	5	3	1	novel		C3N-00552_TP	C3N-00552_NB	A	A																c.1227A>T	p.=	p.G409G	ENST00000366577	14/33	495	399	96	377	377	0	strelka-varscan	MTR,synonymous_variant,p.=,ENST00000366577,NM_000254.2;MTR,synonymous_variant,p.=,ENST00000535889,NM_001291939.1;MTR,upstream_gene_variant,,ENST00000366576,NM_001291940.1;MTR,non_coding_transcript_exon_variant,,ENST00000463959,;	T	ENST00000366577	Transcript	synonymous_variant	1621/10529	1227/3798	409/1265	G	ggA/ggT		1		1	MTR	HGNC	HGNC:7468	protein_coding	YES	CCDS1614.1	ENSP00000355536	Q99707		UPI0000036BC4	NM_000254.2			14/33		PROSITE_profiles:PS50972,TIGRFAM_domain:TIGR02082,Gene3D:3.20.20.20,Pfam_domain:PF00809,PIRSF_domain:PIRSF000381,Superfamily_domains:SSF51717,Superfamily_domains:SSF82282																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	54	236835585	236835585	A	T	1	0	0	0	0	0	0	0	1	9944	291	11	4		4	MTR	1	236835585	Silent	SNP	A	C3N-00552_TP	147252304	236835585	12120837	4	17316											
ROCK2	0	.	GRCh38	chr2	11221238	11221238	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatccgatgaaaggcagctGatttccaacaaaagctttag	16	9	8	8	1	0	2	0	2	0	0	2	3	2	2	2	1	3	3	2	1	6	3	novel		C3N-00552_TP	C3N-00552_NB	G	G																c.1219C>T	p.Gln407Ter	p.Q407*	ENST00000315872	9/33	140	119	21	133	133	0	strelka-varscan-mutect	ROCK2,stop_gained,p.Gln407Ter,ENST00000315872,NM_001321643.1,NM_004850.3;ROCK2,stop_gained,p.Gln164Ter,ENST00000401753,;ROCK2,5_prime_UTR_variant,,ENST00000616279,;ROCK2,downstream_gene_variant,,ENST00000431087,;ROCK2,stop_gained,p.Gln407Ter,ENST00000261535,;ROCK2,non_coding_transcript_exon_variant,,ENST00000484951,;	A	ENST00000315872	Transcript	stop_gained	1668/8292	1219/4167	407/1388	Q/*	Cag/Tag		1		-1	ROCK2	HGNC	HGNC:10252	protein_coding	YES	CCDS42654.1	ENSP00000317985	O75116		UPI000034ECB0	NM_001321643.1,NM_004850.3			9/33		PROSITE_profiles:PS51285,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF28,PIRSF_domain:PIRSF037568,SMART_domains:SM00133,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	54	11221238	11221238	G	A	1	0	0	0	0	0	1	0	0	13696	1299	45	3		3	ROCK2	2	11221238	Nonsense_Mutation	SNP	G	C3N-00552_TP		11221238	230972291	5	17317											
PPIG	0	.	GRCh38	chr2	169630975	169630975	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaaagaaaaagcgaaagaAaagcaagaagaggtcttaat	24	4	10	3	1	1	5	0	0	1	5	1	6	1	5	0	1	2	1	0	1	10	1			C3N-00552_TP	C3N-00552_NB	A	A																c.749A>G	p.Lys250Arg	p.K250R	ENST00000260970	10/14	111	93	18	180	180	0	varscan-mutect	PPIG,missense_variant,p.Lys250Arg,ENST00000260970,NM_004792.2;PPIG,missense_variant,p.Lys235Arg,ENST00000409714,;PPIG,missense_variant,p.Lys250Arg,ENST00000448752,;PPIG,missense_variant,p.Lys250Arg,ENST00000462903,;PPIG,missense_variant,p.Lys246Arg,ENST00000433207,;PPIG,downstream_gene_variant,,ENST00000414307,;PPIG,non_coding_transcript_exon_variant,,ENST00000482772,;PPIG,downstream_gene_variant,,ENST00000530152,;PPIG,upstream_gene_variant,,ENST00000466142,;PPIG,downstream_gene_variant,,ENST00000417938,;	G	ENST00000260970	Transcript	missense_variant	969/6368	749/2265	250/754	K/R	aAa/aGa	COSM5368551	1		1	PPIG	HGNC	HGNC:14650	protein_coding	YES	CCDS2235.1	ENSP00000260970	Q13427		UPI000013D124	NM_004792.2	tolerated(0.17)		10/14		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11071:SF292,hmmpanther:PTHR11071											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	54	169630975	169630975	A	G	1	0	0	0	0	1	0	0	0	12435	14	1	5		5	PPIG	2	169630975	Missense_Mutation	SNP	A	C3N-00552_TP	158409737	169630975	72562554	6	17318											
SETD2	0	.	GRCh38	chr3	47121201	47121201	+	Frame_Shift_Del	DEL	A	A	-																															tgttttctactggactgtgtAaaagaaatttccggattctt																								novel		C3N-00552_TP	C3N-00552_NB	A	A																c.3435delT	p.Phe1145LeufsTer9	p.F1145Lfs*9	ENST00000409792	3/21	183	155	28	144	144	0	sindel-varindel-pindel	SETD2,frameshift_variant,p.Phe1145LeufsTer9,ENST00000409792,NM_014159.6;SETD2,frameshift_variant,p.Phe1101LeufsTer9,ENST00000412450,;SETD2,frameshift_variant,p.Phe1017LeufsTer9,ENST00000330022,;SETD2,frameshift_variant,p.Phe863LeufsTer9,ENST00000431180,;SETD2,frameshift_variant,p.Phe779LeufsTer9,ENST00000445387,;	-	ENST00000409792	Transcript	frameshift_variant	3478/8142	3435/7695	1145/2564	F/X	ttT/tt		1		-1	SETD2	HGNC	HGNC:18420	protein_coding	YES	CCDS2749.2	ENSP00000386759	Q9BYW2		UPI00017E10FB	NM_014159.6			3/21		hmmpanther:PTHR22884:SF344,hmmpanther:PTHR22884																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	54	47121201	47121201	A	-	1	0	1	0	1	0	0	0	0	14409	359	13	0		0	SETD2	3	47121201	Frame_Shift_Del	DEL	A	C3N-00552_TP		47121201	151174358	7	17319											
SETD2	0	.	GRCh38	chr3	47123130	47123133	+	Frame_Shift_Del	DEL	TAAG	TAAG	-																															ttgcctcttctttccatctcTaagtaagaggtctcagtttt																								novel		C3N-00552_TP	C3N-00552_NB	TAAG	TAAG																c.1503_1506delCTTA	p.Tyr501Ter	p.Y501*	ENST00000409792	3/21	139	111	28	115	115	0	sindel-varindel-pindel	SETD2,frameshift_variant,p.Tyr501Ter,ENST00000409792,NM_014159.6;SETD2,frameshift_variant,p.Tyr457Ter,ENST00000412450,;SETD2,frameshift_variant,p.Tyr373Ter,ENST00000330022,;SETD2,frameshift_variant,p.Tyr219Ter,ENST00000431180,;SETD2,frameshift_variant,p.Tyr135Ter,ENST00000445387,;	-	ENST00000409792	Transcript	frameshift_variant	1546-1549/8142	1503-1506/7695	501-502/2564	YL/X	taCTTA/ta		1		-1	SETD2	HGNC	HGNC:18420	protein_coding	YES	CCDS2749.2	ENSP00000386759	Q9BYW2		UPI00017E10FB	NM_014159.6			3/21		hmmpanther:PTHR22884:SF344,hmmpanther:PTHR22884																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	54	47123130	47123130	TAAG	-	1	0	1	0	1	0	0	0	0	14409	1519	53	0		0	SETD2	3	47123130	Frame_Shift_Del	DEL	TAAG	C3N-00552_TP	1929	47123130	151172429	8	17320											
PARP9	0	.	GRCh38	chr3	122550669	122550671	+	In_Frame_Del	DEL	TCA	TCA	-																															ctttggcaaatgttaaaactTcatcaaacaaaatctctgct																								novel		C3N-00552_TP	C3N-00552_NB	TCA	TCA																c.1344_1346delTGA	p.Asp448del	p.D448del	ENST00000360356	6/11	241	225	16	181	181	0	varindel-pindel	PARP9,inframe_deletion,p.Asp413del,ENST00000462315,NM_001146106.1;PARP9,inframe_deletion,p.Asp448del,ENST00000360356,NM_001146102.1,NM_031458.2;PARP9,inframe_deletion,p.Asp413del,ENST00000477522,NM_001146103.1,NM_001146105.1;PARP9,inframe_deletion,p.Asp413del,ENST00000471785,NM_001146104.1;PARP9,intron_variant,,ENST00000492382,;PARP9,upstream_gene_variant,,ENST00000489652,;	-	ENST00000360356	Transcript	inframe_deletion	1572-1574/3198	1344-1346/2565	448-449/854	DE/E	gaTGAa/gaa		1		-1	PARP9	HGNC	HGNC:24118	protein_coding	YES	CCDS3014.1	ENSP00000353512	Q8IXQ6		UPI000013D133	NM_001146102.1,NM_031458.2			6/11		PROSITE_profiles:PS51154,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF61,Gene3D:3.40.220.10,Superfamily_domains:SSF52949																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	54	122550669	122550669	TCA	-	1	0	1	0	1	0	0	0	0	11546	1783	62	0		0	PARP9	3	122550669	In_Frame_Del	DEL	TCA	C3N-00552_TP	75427539	122550669	75744890	9	17321											
PDCD10	0	.	GRCh38	chr3	167697033	167697033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacatcatcagctgccatacGaagaagggactccgtgaagt	13	8	10	10	2	2	2	2	1	0	1	3	4	3	3	2	1	4	1	2	1	5	2	rs868732450		C3N-00552_TP	C3N-00552_NB	G	G																c.244C>T	p.Arg82Cys	p.R82C	ENST00000392750	5/9	431	349	82	333	333	0	strelka-varscan	PDCD10,missense_variant,p.Arg82Cys,ENST00000392750,NM_007217.3;PDCD10,missense_variant,p.Arg82Cys,ENST00000473645,NM_145859.1;PDCD10,missense_variant,p.Arg82Cys,ENST00000497056,NM_145860.1;PDCD10,missense_variant,p.Arg82Cys,ENST00000470131,;PDCD10,missense_variant,p.Arg82Cys,ENST00000461494,;PDCD10,missense_variant,p.Arg82Cys,ENST00000475915,;PDCD10,missense_variant,p.Arg19Cys,ENST00000492396,;PDCD10,missense_variant,p.Arg82Cys,ENST00000471885,;PDCD10,missense_variant,p.Arg82Cys,ENST00000487947,;PDCD10,missense_variant,p.Arg82Cys,ENST00000462725,;PDCD10,missense_variant,p.Arg82Cys,ENST00000492139,;PDCD10,missense_variant,p.Arg63Cys,ENST00000479121,;PDCD10,downstream_gene_variant,,ENST00000464360,;PDCD10,non_coding_transcript_exon_variant,,ENST00000462830,;PDCD10,3_prime_UTR_variant,,ENST00000494502,;PDCD10,non_coding_transcript_exon_variant,,ENST00000483451,;HMGN1P8,upstream_gene_variant,,ENST00000463578,;	A	ENST00000392750	Transcript	missense_variant	662/2067	244/639	82/212	R/C	Cgt/Tgt	rs868732450,COSM1693757	1		-1	PDCD10	HGNC	HGNC:8761	protein_coding	YES	CCDS3202.1	ENSP00000376506	Q9BUL8		UPI0000071E33	NM_007217.3	deleterious(0)		5/9		Pfam_domain:PF06840,hmmpanther:PTHR13250,hmmpanther:PTHR13250:SF1											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	54	167697033	167697033	G	A	1	0	0	0	0	1	0	0	0	11704	1058	37	1		1	PDCD10	3	167697033	Missense_Mutation	SNP	G	C3N-00552_TP	45146364	167697033	30598526	10	17322											
MAN2B2	0	.	GRCh38	chr4	6594714	6594714	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtccgcgaccaccacgacTtcctgccctattccacaggt	7	9	8	17	3	0	0	0	0	0	0	3	2	3	0	6	1	1	0	6	1	1	3	rs111767216		C3N-00552_TP	C3N-00552_NB	T	T																c.1039T>A	p.Phe347Ile	p.F347I	ENST00000285599	7/19	409	325	84	306	306	0	strelka-varscan-mutect	MAN2B2,missense_variant,p.Phe346Ile,ENST00000505907,;MAN2B2,missense_variant,p.Phe347Ile,ENST00000285599,NM_015274.2;MAN2B2,missense_variant,p.Phe296Ile,ENST00000504248,NM_001292038.1;	A	ENST00000285599	Transcript	missense_variant	1075/5143	1039/3030	347/1009	F/I	Ttc/Atc	rs111767216	1		1	MAN2B2	HGNC	HGNC:29623	protein_coding	YES	CCDS33951.1	ENSP00000285599	Q9Y2E5		UPI000004BF05	NM_015274.2	deleterious(0)		7/19		hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF28,Pfam_domain:PF01074,Gene3D:3.20.110.10,Superfamily_domains:SSF88713											1						MODERATE	1	SNV	1			1										PASS		rs111767216	.												A	3	1	54	6594714	6594714	T	A	1	0	0	0	0	1	0	0	0	9138	1609	56	4		4	MAN2B2	4	6594714	Missense_Mutation	SNP	T	C3N-00552_TP		6594714	183619841	11	17323											
CSN3	0	.	GRCh38	chr4	70249064	70249064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtcccaatgtattatgtgCcaaatagctatccttattat	12	16	5	8	0	0	0	0	0	0	0	2	0	2	0	3	0	2	2	3	0	8	6	rs770368585		C3N-00552_TP	C3N-00552_NB	C	C																c.154C>T	p.Pro52Ser	p.P52S	ENST00000304954	4/5	93	78	15	73	73	0	strelka-varscan-mutect	CSN3,missense_variant,p.Pro52Ser,ENST00000304954,NM_005212.2;	T	ENST00000304954	Transcript	missense_variant	240/836	154/549	52/182	P/S	Cca/Tca	rs770368585,COSM4125730,COSM70321	1		1	CSN3	HGNC	HGNC:2446	protein_coding	YES	CCDS3538.1	ENSP00000304822	P07498		UPI000004F262	NM_005212.2	deleterious(0)		4/5		hmmpanther:PTHR11470:SF2,hmmpanther:PTHR11470,Pfam_domain:PF00997,PIRSF_domain:PIRSF002374											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs770368585	.												T	3	4	54	70249064	70249064	C	T	1	0	0	0	0	1	0	0	0	3749	739	26	3		3	CSN3	4	70249064	Missense_Mutation	SNP	C	C3N-00552_TP	63654350	70249064	119965491	12	17324											
MTTP	0	.	GRCh38	chr4	99608943	99608943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaatacatgctcgccattGttcaagacatcctacgtttt	12	14	5	10	2	1	1	1	0	0	1	3	1	2	1	2	0	3	3	2	0	5	7	novel		C3N-00552_TP	C3N-00552_NB	G	G																c.1816G>A	p.Val606Ile	p.V606I	ENST00000511045	12/18	356	297	59	283	283	0	strelka-varscan-mutect	MTTP,missense_variant,p.Val579Ile,ENST00000457717,NM_000253.3;MTTP,missense_variant,p.Val579Ile,ENST00000265517,;MTTP,missense_variant,p.Val606Ile,ENST00000511045,NM_001300785.1;RP11-766F14.1,intron_variant,,ENST00000508578,;	A	ENST00000511045	Transcript	missense_variant	1829/3154	1816/2766	606/921	V/I	Gtt/Att		1		1	MTTP	HGNC	HGNC:7467	protein_coding	YES	CCDS75169.1	ENSP00000427679		E9PBP6	UPI0001D3B6EF	NM_001300785.1	tolerated(1)		12/18		Superfamily_domains:0040642,Gene3D:1lshA02,Pfam_domain:PF01347,PROSITE_profiles:PS51211,hmmpanther:PTHR13024,hmmpanther:PTHR13024:SF1,SMART_domains:SM00638																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	54	99608943	99608943	G	A	1	0	0	0	0	1	0	0	0	9961	1377	48	3		3	MTTP	4	99608943	Missense_Mutation	SNP	G	C3N-00552_TP	29359879	99608943	90605612	13	17325											
SYNJ2	0	.	GRCh38	chr6	158064858	158064858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatggagcccggtccatGtctcgaaccatccagtccaa	11	7	10	13	2	1	0	0	0	1	0	5	3	4	2	5	3	2	0	5	3	3	0	novel		C3N-00552_TP	C3N-00552_NB	G	G																c.1392G>T	p.Met464Ile	p.M464I	ENST00000355585	11/27	58	49	9	61	61	0	strelka-varscan-mutect	SYNJ2,missense_variant,p.Met464Ile,ENST00000355585,NM_003898.3,NM_001178088.1;SYNJ2,downstream_gene_variant,,ENST00000485863,;	T	ENST00000355585	Transcript	missense_variant	1467/7378	1392/4491	464/1496	M/I	atG/atT		1		1	SYNJ2	HGNC	HGNC:11504	protein_coding	YES	CCDS5254.1	ENSP00000347792	O15056		UPI000006E2F8	NM_003898.3,NM_001178088.1	deleterious(0.05)		11/27		hmmpanther:PTHR11200:SF148,hmmpanther:PTHR11200																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	54	158064858	158064858	G	T	1	0	0	0	0	1	0	0	0	15847	1377	48	2		2	SYNJ2	6	158064858	Missense_Mutation	SNP	G	C3N-00552_TP		158064858	12741121	14	17326											
HDAC9	0	.	GRCh38	chr7	18829486	18829486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcttttttaattcagttGcaattaccgccaaatacttg	10	17	5	9	1	2	0	1	0	1	0	2	0	2	0	2	0	4	3	2	0	5	8			C3N-00552_TP	C3N-00552_NB	G	G																c.2404G>A	p.Ala802Thr	p.A802T	ENST00000441542	18/25	115	97	18	119	119	0	strelka-mutect	HDAC9,missense_variant,p.Ala799Thr,ENST00000406451,NM_001321897.1,NM_178423.1;HDAC9,missense_variant,p.Ala758Thr,ENST00000401921,;HDAC9,missense_variant,p.Ala802Thr,ENST00000441542,NM_178425.2;HDAC9,missense_variant,p.Ala799Thr,ENST00000432645,NM_058176.2;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,non_coding_transcript_exon_variant,,ENST00000490851,;HDAC9,downstream_gene_variant,,ENST00000461159,;	A	ENST00000441542	Transcript	missense_variant	2404/3210	2404/3210	802/1069	A/T	Gca/Aca	COSM371174,COSM371175	1		1	HDAC9	HGNC	HGNC:14065	protein_coding	YES	CCDS47553.1	ENSP00000408617	Q9UKV0		UPI000019AB75	NM_178425.2	deleterious(0)		18/25		hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF136,Gene3D:3.40.800.20,Pfam_domain:PF00850,PIRSF_domain:PIRSF037911,Superfamily_domains:SSF52768,Prints_domain:PR01270											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	54	18829486	18829486	G	A	1	0	0	0	0	1	0	0	0	6901	1319	46	3		3	HDAC9	7	18829486	Missense_Mutation	SNP	G	C3N-00552_TP		18829486	140516487	15	17327											
SLC35G5	0	.	GRCh38	chr8	11331954	11331954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaccctgccctggtgtGcgctgtcctgcattccgagg	3	9	13	16	2	0	0	0	0	0	0	2	1	2	0	5	3	3	2	5	3	0	1	novel		C3N-00552_TP	C3N-00552_NB	G	G																c.848G>A	p.Cys283Tyr	p.C283Y	ENST00000382435	1/1	429	375	54	384	384	0	varscan-mutect	SLC35G5,missense_variant,p.Cys283Tyr,ENST00000382435,NM_054028.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;	A	ENST00000382435	Transcript	missense_variant	1067/1321	848/1017	283/338	C/Y	tGc/tAc		1		1	SLC35G5	HGNC	HGNC:15546	protein_coding	YES	CCDS5980.1	ENSP00000371872	Q96KT7		UPI0000071B8F	NM_054028.1	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR22911:SF32,hmmpanther:PTHR22911,Superfamily_domains:0043518																	MODERATE		SNV				1										PASS		.	.												A	3	1	54	11331954	11331954	G	A	1	0	0	0	0	1	0	0	0	14869	1319	46	3		3	SLC35G5	8	11331954	Missense_Mutation	SNP	G	C3N-00552_TP		11331954	133806682	16	17328											
INTS9	0	.	GRCh38	chr8	28846764	28846764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacctctggtaaacagaattCcggcacagaatccacaaata	16	8	6	11	1	1	2	0	0	1	2	3	2	3	2	3	2	2	2	3	2	7	4	novel		C3N-00552_TP	C3N-00552_NB	C	C																c.244G>A	p.Glu82Lys	p.E82K	ENST00000521022	4/17	221	191	30	171	171	0	strelka-varscan-mutect	INTS9,missense_variant,p.Glu82Lys,ENST00000521022,NM_018250.3;INTS9,missense_variant,p.Glu58Lys,ENST00000521777,NM_001172562.1;INTS9,missense_variant,p.Glu82Lys,ENST00000523436,;INTS9,missense_variant,p.Glu74Lys,ENST00000524081,;INTS9,missense_variant,p.Glu58Lys,ENST00000520184,;INTS9,intron_variant,,ENST00000416984,NM_001145159.2;INTS9,missense_variant,p.Glu82Lys,ENST00000523303,;INTS9,missense_variant,p.Glu82Lys,ENST00000518510,;INTS9,non_coding_transcript_exon_variant,,ENST00000520983,;INTS9,intron_variant,,ENST00000522363,;INTS9,intron_variant,,ENST00000520437,;INTS9,downstream_gene_variant,,ENST00000520831,;	T	ENST00000521022	Transcript	missense_variant	326/2544	244/1977	82/658	E/K	Gaa/Aaa		1		-1	INTS9	HGNC	HGNC:25592	protein_coding	YES	CCDS34873.1	ENSP00000429065	Q9NV88		UPI0000071C2E	NM_018250.3	deleterious(0.01)		4/17		hmmpanther:PTHR11203:SF2,hmmpanther:PTHR11203,Superfamily_domains:SSF56281																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	54	28846764	28846764	C	T	1	0	0	0	0	1	0	0	0	7688	864	30	3		3	INTS9	8	28846764	Missense_Mutation	SNP	C	C3N-00552_TP	17514810	28846764	116291872	17	17329											
SPATA31D1	0	.	GRCh38	chr9	81988950	81988950	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatactgtacttgttctaCgtggtattgaccctgtattc	7	19	7	8	1	1	1	0	1	1	0	2	1	1	1	1	1	3	4	1	1	6	11	novel		C3N-00552_TP	C3N-00552_NB	C	C																c.132C>T	p.=	p.Y44Y	ENST00000344803	1/4	312	254	58	249	249	0	strelka-varscan-mutect	SPATA31D1,synonymous_variant,p.=,ENST00000344803,NM_001001670.2;RP11-15B24.5,intron_variant,,ENST00000637606,;SPATA31D1,non_coding_transcript_exon_variant,,ENST00000603921,;	T	ENST00000344803	Transcript	synonymous_variant	179/4833	132/4731	44/1576	Y	taC/taT		1		1	SPATA31D1	HGNC	HGNC:37283	protein_coding	YES	CCDS47986.1	ENSP00000341988	Q6ZQQ2		UPI00001C10A6	NM_001001670.2			1/4		Transmembrane_helices:TMhelix,hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF12																	LOW	1	SNV	2			1										PASS		rs1397482654	.												T	2	4	54	81988950	81988950	C	T	1	0	0	0	0	0	0	0	1	15347	547	19	1		1	SPATA31D1	9	81988950	Silent	SNP	C	C3N-00552_TP		81988950	56405767	18	17330											
HSD17B3	0	.	GRCh38	chr9	96240879	96240879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttagatactttgtcattGcagtcgagacagcatatggg	11	14	10	6	1	1	2	1	0	0	2	2	3	1	2	0	1	3	2	0	1	4	7	novel		C3N-00552_TP	C3N-00552_NB	G	G																c.701C>T	p.Ala234Val	p.A234V	ENST00000375263	10/11	310	247	63	199	199	0	strelka-varscan-mutect	HSD17B3,missense_variant,p.Ala234Val,ENST00000375263,NM_000197.1;HSD17B3,intron_variant,,ENST00000375262,;HSD17B3,non_coding_transcript_exon_variant,,ENST00000464104,;HSD17B3,non_coding_transcript_exon_variant,,ENST00000494814,;HSD17B3,non_coding_transcript_exon_variant,,ENST00000484816,;HSD17B3,upstream_gene_variant,,ENST00000467499,;	A	ENST00000375263	Transcript	missense_variant	749/1135	701/933	234/310	A/V	gCa/gTa		1		-1	HSD17B3	HGNC	HGNC:5212	protein_coding	YES	CCDS6716.1	ENSP00000364412	P37058	Q6FH62	UPI0000001643	NM_000197.1	deleterious(0.04)		10/11		Gene3D:3.40.50.720,Pfam_domain:PF00106,PIRSF_domain:PIRSF000126,Prints_domain:PR00081,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	54	96240879	96240879	G	A	1	0	0	0	0	1	0	0	0	7280	1319	46	3		3	HSD17B3	9	96240879	Missense_Mutation	SNP	G	C3N-00552_TP	14251929	96240879	42153838	19	17331											
SNX30	0	.	GRCh38	chr9	112836390	112836390	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgatcgaatagcccagcgGatcatcaaagaagaaatagg	17	7	10	7	2	2	3	2	1	0	2	3	5	2	4	1	2	2	0	1	2	6	3	novel		C3N-00552_TP	C3N-00552_NB	G	G																c.795G>T	p.=	p.R265R	ENST00000374232	5/9	94	77	17	74	74	0	strelka-varscan-mutect	SNX30,synonymous_variant,p.=,ENST00000374232,NM_001012994.1;SNX30,upstream_gene_variant,,ENST00000416585,;	T	ENST00000374232	Transcript	synonymous_variant	959/7622	795/1314	265/437	R	cgG/cgT		1		1	SNX30	HGNC	HGNC:23685	protein_coding	YES	CCDS43865.1	ENSP00000363349	Q5VWJ9		UPI0000457796	NM_001012994.1			5/9		hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF123,Superfamily_domains:SSF103657																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	54	112836390	112836390	G	T	1	0	0	0	0	0	0	0	1	15221	1161	41	2		2	SNX30	9	112836390	Silent	SNP	G	C3N-00552_TP	16595511	112836390	25558327	20	17332											
OR1Q1	0	.	GRCh38	chr9	122615483	122615483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccacctcactgtggtggCcatattctatggcaccctca	7	11	7	16	0	3	0	2	0	1	0	4	0	4	0	4	3	0	1	4	3	2	3	novel		C3N-00552_TP	C3N-00552_NB	C	C																c.746C>T	p.Ala249Val	p.A249V	ENST00000297913	1/1	119	98	21	72	72	0	strelka-varscan-mutect	OR1Q1,missense_variant,p.Ala249Val,ENST00000297913,NM_012364.1;RP11-64P14.7,intron_variant,,ENST00000431442,;RP11-64P14.7,upstream_gene_variant,,ENST00000419604,;	T	ENST00000297913	Transcript	missense_variant	746/945	746/945	249/314	A/V	gCc/gTc		1		1	OR1Q1	HGNC	HGNC:8223	protein_coding	YES	CCDS35125.1	ENSP00000297913	Q15612		UPI000003CACD	NM_012364.1	tolerated(0.21)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF92,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		rs1457572702	.												T	3	4	54	122615483	122615483	C	T	1	0	0	0	0	1	0	0	0	11049	739	26	3		3	OR1Q1	9	122615483	Missense_Mutation	SNP	C	C3N-00552_TP	9779093	122615483	15779234	21	17333											
NT5C2	0	.	GRCh38	chr10	103093182	103093182	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctgtgcgagttcaggAatcaccaaaaaagttcgcca	13	8	9	11	2	2	0	2	0	0	0	4	2	3	1	3	1	2	3	3	1	4	2	novel		C3N-00552_TP	C3N-00552_NB	A	A																c.1116T>A	p.=	p.I372I	ENST00000343289	14/18	77	64	13	69	69	0	strelka-varscan-mutect	NT5C2,synonymous_variant,p.=,ENST00000343289,NM_001134373.2,NM_012229.4;NT5C2,synonymous_variant,p.=,ENST00000404739,;NT5C2,synonymous_variant,p.=,ENST00000421281,;CNNM2,downstream_gene_variant,,ENST00000369878,NM_017649.4;NT5C2,downstream_gene_variant,,ENST00000458345,;NT5C2,non_coding_transcript_exon_variant,,ENST00000369857,;NT5C2,downstream_gene_variant,,ENST00000461461,;NT5C2,downstream_gene_variant,,ENST00000452156,;NT5C2,downstream_gene_variant,,ENST00000469228,;	T	ENST00000343289	Transcript	synonymous_variant	1211/3435	1116/1686	372/561	I	atT/atA		1		-1	NT5C2	HGNC	HGNC:8022	protein_coding	YES	CCDS7544.1	ENSP00000339479	P49902		UPI0000124F44	NM_001134373.2,NM_012229.4			14/18		Gene3D:3.40.50.1000,Pfam_domain:PF05761,PIRSF_domain:PIRSF017434,hmmpanther:PTHR12103,hmmpanther:PTHR12103:SF17,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR02244																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	54	103093182	103093182	A	T	1	0	0	0	0	0	0	0	1	10750	242	9	4		4	NT5C2	10	103093182	Silent	SNP	A	C3N-00552_TP		103093182	30704240	22	17334											
FNBP4	0	.	GRCh38	chr11	47723063	47723064	+	Frame_Shift_Ins	INS	-	-	A																															gaggaggaggaggtggtggtINSggtggttctataatggtagc																								novel		C3N-00552_TP	C3N-00552_NB	-	-																c.2717_2718insT	p.Pro907ThrfsTer20	p.P907Tfs*20	ENST00000263773	15/17	172	139	33	202	202	0	sindel-varindel-pindel	FNBP4,frameshift_variant,p.Pro907ThrfsTer20,ENST00000263773,NM_001318339.1,NM_015308.2;Y_RNA,downstream_gene_variant,,ENST00000363220,;FNBP4,non_coding_transcript_exon_variant,,ENST00000532646,;FNBP4,intron_variant,,ENST00000526109,;FNBP4,downstream_gene_variant,,ENST00000525792,;FNBP4,downstream_gene_variant,,ENST00000531394,;FNBP4,non_coding_transcript_exon_variant,,ENST00000530207,;	A	ENST00000263773	Transcript	frameshift_variant	2730-2731/3972	2717-2718/3054	906/1017	P/PX	cca/ccTa		1		-1	FNBP4	HGNC	HGNC:19752	protein_coding	YES	CCDS41644.1	ENSP00000263773	Q8N3X1		UPI0000DBEF37	NM_001318339.1,NM_015308.2			15/17		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF175,Low_complexity_(Seg):seg																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	54	47723063	47723063	-	A	1	0	1	1	0	0	0	0	0	5823	1683	59	0		0	FNBP4	11	47723063	Frame_Shift_Ins	INS	-	C3N-00552_TP		47723063	87363559	23	17335											
UBE4A	0	.	GRCh38	chr11	118384683	118384683	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taattaccgccgtcccatgtAtcctatcctaagatacatgt	11	13	5	12	2	0	1	0	0	0	1	3	1	3	1	5	0	2	1	5	0	6	6	novel		C3N-00552_TP	C3N-00552_NB	A	A																c.2267A>T	p.Tyr756Phe	p.Y756F	ENST00000431736	14/20	195	158	37	134	134	0	strelka-varscan-mutect	UBE4A,missense_variant,p.Tyr749Phe,ENST00000252108,NM_001204077.1;UBE4A,missense_variant,p.Tyr756Phe,ENST00000431736,NM_004788.3;UBE4A,missense_variant,p.Tyr221Phe,ENST00000545354,;	T	ENST00000431736	Transcript	missense_variant	2339/6061	2267/3222	756/1073	Y/F	tAt/tTt		1		1	UBE4A	HGNC	HGNC:12499	protein_coding	YES	CCDS8396.1	ENSP00000387362	Q14139		UPI000013CD3F	NM_004788.3	tolerated(0.06)		14/20		hmmpanther:PTHR13931:SF2,hmmpanther:PTHR13931,Pfam_domain:PF10408																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	54	118384683	118384683	A	T	1	0	0	0	0	1	0	0	0	17406	449	16	4		4	UBE4A	11	118384683	Missense_Mutation	SNP	A	C3N-00552_TP	70661620	118384683	16701939	24	17336											
MRPS35	0	.	GRCh38	chr12	27710852	27710852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcgcagccatggcggcCgccgcgctcccagcatggct	4	6	13	18	5	0	0	0	0	0	0	3	0	2	0	5	3	2	4	5	3	0	0	novel		C3N-00552_TP	C3N-00552_NB	C	C																c.9C>T	p.=	p.A3A	ENST00000081029	1/8	197	186	11	128	128	0	strelka-varscan-mutect	MRPS35,synonymous_variant,p.=,ENST00000081029,NM_021821.3;MRPS35,synonymous_variant,p.=,ENST00000538315,NM_001190864.1;MRPS35,synonymous_variant,p.=,ENST00000542791,;RP11-1060J15.7,downstream_gene_variant,,ENST00000538640,;RP11-1060J15.4,upstream_gene_variant,,ENST00000536317,;RP11-1060J15.4,upstream_gene_variant,,ENST00000542660,;MRPS35,synonymous_variant,p.=,ENST00000536569,;MRPS35,upstream_gene_variant,,ENST00000542199,;	T	ENST00000081029	Transcript	synonymous_variant	80/1888	9/972	3/323	A	gcC/gcT		1		1	MRPS35	HGNC	HGNC:16635	protein_coding	YES	CCDS8714.1	ENSP00000081029	P82673		UPI000003B0E7	NM_021821.3			1/8																			LOW	1	SNV	1			1										PASS		rs1033768892	.												T	2	4	54	27710852	27710852	C	T	1	0	0	0	0	0	0	0	1	9821	639	23	1		1	MRPS35	12	27710852	Silent	SNP	C	C3N-00552_TP		27710852	105564457	25	17337											
FAM179B	0	.	GRCh38	chr14	45027407	45027407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaagtattgaaccaccatCagggatttatggaagatcag	16	9	9	7	0	2	2	2	1	0	1	2	4	2	4	2	2	1	1	2	2	5	4	novel		C3N-00552_TP	C3N-00552_NB	C	C																c.3437C>T	p.Ser1146Leu	p.S1146L	ENST00000361462	9/20	153	139	14	161	161	0	strelka-varscan-mutect	FAM179B,missense_variant,p.Ser1146Leu,ENST00000361462,NM_001308120.1;FAM179B,missense_variant,p.Ser1146Leu,ENST00000361577,NM_015091.2;KLHL28,intron_variant,,ENST00000556239,;KLHL28,intron_variant,,ENST00000553817,;FAM179B,3_prime_UTR_variant,,ENST00000557423,;FAM179B,non_coding_transcript_exon_variant,,ENST00000556105,;FAM179B,downstream_gene_variant,,ENST00000555586,;	T	ENST00000361462	Transcript	missense_variant	3620/6375	3437/5322	1146/1773	S/L	tCa/tTa		1		1	FAM179B	HGNC	HGNC:19959	protein_coding	YES	CCDS76676.1	ENSP00000354917		G3XAE9	UPI000022974E	NM_001308120.1	deleterious(0.04)		9/20		hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	54	45027407	45027407	C	T	1	0	0	0	0	1	0	0	0	5351	838	29	3		3	FAM179B	14	45027407	Missense_Mutation	SNP	C	C3N-00552_TP		45027407	62016311	26	17338											
NGB	0	.	GRCh38	chr14	77270855	77270857	+	In_Frame_Del	DEL	AAC	AAC	-																															cgtgtagccctcacctggcaAacaggacggtgccgtgctcc																								novel		C3N-00552_TP	C3N-00552_NB	AAC	AAC																c.81_83delGTT	p.Phe28del	p.F28del	ENST00000298352	1/4	230	208	22	242	242	0	sindel-varindel	NGB,inframe_deletion,p.Phe28del,ENST00000298352,NM_021257.3;POMT2,downstream_gene_variant,,ENST00000261534,NM_013382.5;MIR1260A,downstream_gene_variant,,ENST00000408827,;POMT2,downstream_gene_variant,,ENST00000452340,;POMT2,downstream_gene_variant,,ENST00000554767,;	-	ENST00000298352	Transcript	inframe_deletion	456-458/1884	81-83/456	27-28/151	LF/L	ctGTTt/ctt		1		-1	NGB	HGNC	HGNC:14077	protein_coding	YES	CCDS9856.1	ENSP00000298352	Q9NPG2	A0M8W9	UPI0000073D72	NM_021257.3			1/4		PROSITE_profiles:PS01033,hmmpanther:PTHR22924,Gene3D:1.10.490.10,Pfam_domain:PF00042,Superfamily_domains:SSF46458																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	54	77270855	77270855	AAC	-	1	0	1	0	1	0	0	0	0	10428	14	1	0		0	NGB	14	77270855	In_Frame_Del	DEL	AAC	C3N-00552_TP	32243448	77270855	29772863	27	17339	374	2									
NGB	0	.	GRCh38	chr14	77270858	77270858	+	Missense_Mutation	SNP	A	A	C																															gtagccctcacctggcaaacAggacggtgccgtgctccagc																								novel		C3N-00552_TP	C3N-00552_NB	A	A																c.80T>G	p.Leu27Arg	p.L27R	ENST00000298352	1/4	251	226	25	236	235	1	strelka-varscan-mutect	NGB,missense_variant,p.Leu27Arg,ENST00000298352,NM_021257.3;POMT2,downstream_gene_variant,,ENST00000261534,NM_013382.5;MIR1260A,downstream_gene_variant,,ENST00000408827,;POMT2,downstream_gene_variant,,ENST00000452340,;POMT2,downstream_gene_variant,,ENST00000554767,;	C	ENST00000298352	Transcript	missense_variant	455/1884	80/456	27/151	L/R	cTg/cGg		1		-1	NGB	HGNC	HGNC:14077	protein_coding	YES	CCDS9856.1	ENSP00000298352	Q9NPG2	A0M8W9	UPI0000073D72	NM_021257.3	deleterious(0)		1/4		PROSITE_profiles:PS01033,hmmpanther:PTHR22924,Gene3D:1.10.490.10,Pfam_domain:PF00042,Superfamily_domains:SSF46458																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	54	77270858	77270858	A	C	1	0	0	0	0	1	0	0	0	10428	188	7	5		5	NGB	14	77270858	Missense_Mutation	SNP	A	C3N-00552_TP	3	77270858	29772860	28	17340	374	2									
KCNK13	0	.	GRCh38	chr14	90184787	90184787	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggcagagagtgacacGgacgggcgccggctctcagg	7	4	20	10	4	1	2	1	1	1	1	2	4	1	3	1	7	0	2	1	7	0	0	rs764305711		C3N-00552_TP	C3N-00552_NB	G	G																c.1011G>A	p.=	p.T337T	ENST00000282146	2/2	173	145	28	146	146	0	strelka-varscan-mutect	KCNK13,synonymous_variant,p.=,ENST00000282146,NM_022054.3;	A	ENST00000282146	Transcript	synonymous_variant	1452/2522	1011/1227	337/408	T	acG/acA	rs764305711	1		1	KCNK13	HGNC	HGNC:6275	protein_coding	YES	CCDS9889.1	ENSP00000282146	Q9HB14		UPI0000127A55	NM_022054.3			2/2		hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF57																	LOW	1	SNV	1			1										PASS		rs764305711	.												A	2	1	54	90184787	90184787	G	A	1	0	0	0	0	0	0	0	1	7978	1103	39	1		1	KCNK13	14	90184787	Silent	SNP	G	C3N-00552_TP	12913929	90184787	16858931	29	17341											
CDT1	0	.	GRCh38	chr16	88806601	88806601	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagccggccgcgctgccccAgccacccgccacggagaagc	7	1	13	20	6	0	1	0	0	0	1	0	3	0	1	7	2	4	1	7	2	1	0	novel		C3N-00552_TP	C3N-00552_NB	A	A																c.1049A>G	p.Gln350Arg	p.Q350R	ENST00000301019	7/10	473	399	74	302	302	0	strelka-varscan-mutect	CDT1,missense_variant,p.Gln350Arg,ENST00000301019,NM_030928.3;CDT1,missense_variant,p.Gln107Arg,ENST00000569140,;APRT,downstream_gene_variant,,ENST00000378364,NM_000485.2;APRT,downstream_gene_variant,,ENST00000569616,;APRT,downstream_gene_variant,,ENST00000563655,;APRT,downstream_gene_variant,,ENST00000426324,NM_001030018.1;APRT,downstream_gene_variant,,ENST00000567713,;CDT1,downstream_gene_variant,,ENST00000562747,;APRT,downstream_gene_variant,,ENST00000567391,;APRT,downstream_gene_variant,,ENST00000564858,;APRT,downstream_gene_variant,,ENST00000568319,;APRT,downstream_gene_variant,,ENST00000562464,;APRT,downstream_gene_variant,,ENST00000568575,;APRT,downstream_gene_variant,,ENST00000567057,;	G	ENST00000301019	Transcript	missense_variant	1668/3240	1049/1641	350/546	Q/R	cAg/cGg		1		1	CDT1	HGNC	HGNC:24576	protein_coding	YES	CCDS32510.1	ENSP00000301019	Q9H211		UPI00001FF6B1	NM_030928.3	tolerated(0.21)		7/10		hmmpanther:PTHR28637:SF1,hmmpanther:PTHR28637,SMART_domains:SM01075,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	54	88806601	88806601	A	G	1	0	0	0	0	1	0	0	0	2886	188	7	5		5	CDT1	16	88806601	Missense_Mutation	SNP	A	C3N-00552_TP		88806601	1531744	30	17342											
TP53	0	.	GRCh38	chr17	7674230	7674230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		C3N-00552_TP	C3N-00552_NB	C	C																c.733G>A	p.Gly245Ser	p.G245S	ENST00000269305	7/11	325	253	72	252	252	0	strelka-varscan-mutect	TP53,missense_variant,p.Gly245Ser,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Gly245Ser,ENST00000420246,;TP53,missense_variant,p.Gly206Ser,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Gly206Ser,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Gly245Ser,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Gly206Ser,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Gly245Ser,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Gly206Ser,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Gly245Ser,ENST00000445888,;TP53,missense_variant,p.Gly206Ser,ENST00000619485,;TP53,missense_variant,p.Gly113Ser,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Gly86Ser,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Gly113Ser,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Gly86Ser,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Gly113Ser,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Gly86Ser,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Gly245Ser,ENST00000359597,;TP53,missense_variant,p.Gly234Ser,ENST00000615910,;TP53,missense_variant,p.Gly245Ser,ENST00000413465,;TP53,missense_variant,p.Gly113Ser,ENST00000509690,;TP53,missense_variant,p.Gly152Ser,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Gly206Ser,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	T	ENST00000269305	Transcript	missense_variant	923/2579	733/1182	245/393	G/S	Ggc/Agc	rs28934575,CM010463,CM900210,CM920674,TP53_g.13370G>T,TP53_g.13370G>C,TP53_g.13370del,TP53_g.13370G>A,COSM10957,COSM11081,COSM121035,COSM121036,COSM121037,COSM1610835,COSM1610836,COSM1610837,COSM1640833,COSM1646855,COSM3356965,COSM3388190,COSM3717639,COSM3717640,COSM3726870,COSM3726871,COSM3726872,COSM3726873,COSM3726874,COSM44642,COSM562651,COSM562652,COSM562653,COSM6932	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										likely_pathogenic,pathogenic	0,0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	2.50327002510566e+23					MODERATE	1	SNV	1		1,1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs28934575	.												T	3	4	54	7674230	7674230	C	T	1	0	0	0	0	1	0	0	0	16859	652	23	1		1	TP53	17	7674230	Missense_Mutation	SNP	C	C3N-00552_TP		7674230	75583211	31	17343											
TBC1D29	0	.	GRCh38	chr17	30560649	30560649	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaccccgtgcctgtgggaTatgtatttgctggaagggga	7	11	14	9	1	1	0	1	0	0	0	1	3	1	3	3	4	2	2	3	4	3	3	rs78888987		C3N-00552_TP	C3N-00552_NB	T	T																c.111T>C	p.=	p.D37D	ENST00000580161	4/6	92	82	10	93	92	1	strelka-varscan-mutect	TBC1D29,synonymous_variant,p.=,ENST00000580161,;TBC1D29,synonymous_variant,p.=,ENST00000579181,NM_015594.2;TBC1D29,synonymous_variant,p.=,ENST00000584297,;RP11-218M11.1,downstream_gene_variant,,ENST00000563063,;RP11-218M11.6,upstream_gene_variant,,ENST00000582125,;TBC1D29,non_coding_transcript_exon_variant,,ENST00000582511,;RP11-271K11.1,downstream_gene_variant,,ENST00000578471,;	C	ENST00000580161	Transcript	synonymous_variant	2608/3018	111/453	37/150	D	gaT/gaC	rs78888987	1		1	TBC1D29	HGNC	HGNC:24509	protein_coding	YES	CCDS32606.1	ENSP00000462799	Q9UFV1		UPI00000702F8				4/6		PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF242,hmmpanther:PTHR22957,Superfamily_domains:SSF47923																	LOW	1	SNV	1			1										PASS		rs78888987	.												C	2	2	54	30560649	30560649	T	C	1	0	0	0	0	0	0	0	1	16018	1403	49	5		5	TBC1D29	17	30560649	Silent	SNP	T	C3N-00552_TP	22886419	30560649	52696792	32	17344											
CDC27	0	.	GRCh38	chr17	47157020	47157020	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagttcctgttcccagtggGacagtatcaggtgaaattac	11	11	11	8	0	1	1	1	1	0	0	3	3	3	2	2	2	1	3	2	2	4	4	rs752506620		C3N-00552_TP	C3N-00552_NB	G	G																c.735C>A	p.=	p.V245V	ENST00000531206	7/19	91	84	7	98	97	1	varscan-mutect	CDC27,synonymous_variant,p.=,ENST00000066544,NM_001293091.1,NM_001256.4;CDC27,synonymous_variant,p.=,ENST00000531206,NM_001114091.2;CDC27,synonymous_variant,p.=,ENST00000527547,NM_001293089.1;CDC27,intron_variant,,ENST00000575483,;RP5-867C24.4,downstream_gene_variant,,ENST00000574021,;CDC27,downstream_gene_variant,,ENST00000528748,;CDC27,downstream_gene_variant,,ENST00000532575,;CDC27,upstream_gene_variant,,ENST00000575830,;CDC27,synonymous_variant,p.=,ENST00000526866,;CDC27,synonymous_variant,p.=,ENST00000576484,;CDC27,3_prime_UTR_variant,,ENST00000533415,;CDC27,3_prime_UTR_variant,,ENST00000570818,;CDC27,non_coding_transcript_exon_variant,,ENST00000525495,;CDC27,intron_variant,,ENST00000573550,;CDC27,intron_variant,,ENST00000574304,;CDC27,downstream_gene_variant,,ENST00000532893,;RP5-867C24.1,downstream_gene_variant,,ENST00000488906,;	T	ENST00000531206	Transcript	synonymous_variant	739/3177	735/2493	245/830	V	gtC/gtA	rs752506620	1		-1	CDC27	HGNC	HGNC:1728	protein_coding	YES	CCDS45720.1	ENSP00000434614	P30260		UPI0000E59FE6	NM_001114091.2			7/19																			LOW	1	SNV	1			1										PASS		rs752506620	.												T	2	4	54	47157020	47157020	G	T	1	0	0	0	0	0	0	0	1	2769	1161	41	2		2	CDC27	17	47157020	Silent	SNP	G	C3N-00552_TP	16596371	47157020	36100421	33	17345											
SP6	0	.	GRCh38	chr17	47847532	47847532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggaggtggcgctgcagctCgtccgagcgcgtgaagcgct	5	7	17	12	6	0	1	0	1	0	0	2	3	1	2	1	3	4	4	1	3	1	0	novel		C3N-00552_TP	C3N-00552_NB	C	C																c.898G>A	p.Glu300Lys	p.E300K	ENST00000536300	2/2	452	429	23	383	383	0	strelka-varscan-mutect	SP6,missense_variant,p.Glu300Lys,ENST00000536300,NM_001258248.1;SP6,missense_variant,p.Glu300Lys,ENST00000342234,NM_199262.2;	T	ENST00000536300	Transcript	missense_variant	1230/3848	898/1131	300/376	E/K	Gag/Aag		1		-1	SP6	HGNC	HGNC:14530	protein_coding	YES	CCDS11520.1	ENSP00000438209	Q3SY56		UPI000022A416	NM_001258248.1	deleterious(0)		2/2		PROSITE_profiles:PS50157,hmmpanther:PTHR23235,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	54	47847532	47847532	C	T	1	0	0	0	0	1	0	0	0	15294	893	31	1		1	SP6	17	47847532	Missense_Mutation	SNP	C	C3N-00552_TP	690512	47847532	35409909	34	17346											
NOL11	0	.	GRCh38	chr17	67724114	67724114	+	Frame_Shift_Del	DEL	A	A	-																															ttaaccaaatatacactcttActtggacaagacgaaaactc																								rs144436026		C3N-00552_TP	C3N-00552_NB	A	A																c.585delA	p.Leu195PhefsTer10	p.L195Ffs*10	ENST00000253247	6/18	49	45	4	80	80	0	sindel-pindel	NOL11,frameshift_variant,p.Leu195PhefsTer10,ENST00000253247,NM_015462.4,NM_001303272.1;NOL11,frameshift_variant,p.Leu67PhefsTer10,ENST00000580833,;NOL11,downstream_gene_variant,,ENST00000581106,;NOL11,downstream_gene_variant,,ENST00000581966,;NOL11,3_prime_UTR_variant,,ENST00000581375,;NOL11,non_coding_transcript_exon_variant,,ENST00000580914,;NOL11,downstream_gene_variant,,ENST00000584942,;	-	ENST00000253247	Transcript	frameshift_variant	700/2947	585/2160	195/719	L/X	ttA/tt	rs144436026	1		1	NOL11	HGNC	HGNC:24557	protein_coding	YES	CCDS11671.1	ENSP00000253247	Q9H8H0		UPI0000072B83	NM_015462.4,NM_001303272.1			6/18		hmmpanther:PTHR15633,hmmpanther:PTHR15633:SF2,Superfamily_domains:SSF50978																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	54	67724114	67724114	A	-	1	0	1	0	1	0	0	0	0	10564	388	14	0		0	NOL11	17	67724114	Frame_Shift_Del	DEL	A	C3N-00552_TP	19876582	67724114	15533327	35	17347											
SMAD4	0	.	GRCh38	chr18	51078399	51078409	+	Frame_Shift_Del	DEL	CGGGCCCTCCA	CGGGCCCTCCA	-																															ggattgaaattcacttacacCgggccctccagctcctagac																								novel		C3N-00552_TP	C3N-00552_NB	CGGGCCCTCCA	CGGGCCCTCCA																c.1591_1601delCGGGCCCTCCA	p.Arg531AlafsTer42	p.R531Afs*42	ENST00000342988	12/12	262	219	43	268	268	0	sindel-pindel	SMAD4,frameshift_variant,p.Arg531AlafsTer42,ENST00000342988,NM_005359.5;SMAD4,frameshift_variant,p.Arg531AlafsTer42,ENST00000398417,;SMAD4,frameshift_variant,p.Arg435AlafsTer?,ENST00000588745,;SMAD4,downstream_gene_variant,,ENST00000593223,;SMAD4,non_coding_transcript_exon_variant,,ENST00000586253,;SMAD4,3_prime_UTR_variant,,ENST00000611848,;SMAD4,3_prime_UTR_variant,,ENST00000592186,;SMAD4,non_coding_transcript_exon_variant,,ENST00000591126,;SMAD4,downstream_gene_variant,,ENST00000590499,;	-	ENST00000342988	Transcript	frameshift_variant	2129-2139/8769	1591-1601/1659	531-534/552	RALQ/X	CGGGCCCTCCAg/g		1		1	SMAD4	HGNC	HGNC:6770	protein_coding	YES	CCDS11950.1	ENSP00000341551	Q13485	A0A024R274	UPI0000053431	NM_005359.5			12/12		Gene3D:2.60.200.10,PROSITE_profiles:PS51076,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF39,Superfamily_domains:SSF49879																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	54	51078399	51078399	CGGGCCCTCCA	-	1	0	1	0	1	0	0	0	0	15053	643	23	0		0	SMAD4	18	51078399	Frame_Shift_Del	DEL	CGGGCCCTCCA	C3N-00552_TP		51078399	29294886	36	17348											
TDRD12	0	.	GRCh38	chr19	32815617	32815617	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaagaaagcctaagccagaCcccgtaagtggatttctgtc	12	9	10	10	1	1	3	0	1	1	2	2	4	1	4	4	1	2	1	4	1	4	3	novel		C3N-00552_TP	C3N-00552_NB	C	C																c.3311C>A	p.Thr1104Asn	p.T1104N	ENST00000444215	26/28	119	104	15	96	96	0	strelka-varscan-mutect	TDRD12,missense_variant,p.Thr1104Asn,ENST00000444215,;TDRD12,missense_variant,p.Thr180Asn,ENST00000637289,;TDRD12,missense_variant,p.Thr19Asn,ENST00000564769,;	A	ENST00000444215	Transcript	missense_variant	3631/3934	3311/3534	1104/1177	T/N	aCc/aAc		1		1	TDRD12	HGNC	HGNC:25044	protein_coding			ENSP00000416248	Q587J7		UPI0000251D93		tolerated(0.06)		26/28																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	54	32815617	32815617	C	A	1	0	0	0	0	1	0	0	0	16140	521	18	2		2	TDRD12	19	32815617	Missense_Mutation	SNP	C	C3N-00552_TP		32815617	25801999	37	17349											
CACNG7	0	.	GRCh38	chr19	53942037	53942037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaccttgccttgccgcaggGggccggcgtgatgtccgtgt	3	10	16	12	4	0	2	0	2	0	0	1	2	1	2	5	3	2	1	5	3	0	2	novel		C3N-00552_TP	C3N-00552_NB	G	G																c.572G>A	p.Gly191Glu	p.G191E	ENST00000391767	6/6	54	48	6	24	24	0	strelka-mutect	CACNG7,missense_variant,p.Gly191Glu,ENST00000391767,;CACNG7,missense_variant,p.Gly191Glu,ENST00000222212,NM_031896.4;CACNG7,downstream_gene_variant,,ENST00000391766,;CACNG7,downstream_gene_variant,,ENST00000468076,;	A	ENST00000391767	Transcript	missense_variant,splice_region_variant	784/2688	572/828	191/275	G/E	gGg/gAg		1		1	CACNG7	HGNC	HGNC:13626	protein_coding	YES	CCDS12868.1	ENSP00000375647	P62955		UPI00000010F1		tolerated(0.1)		6/6		Transmembrane_helices:TMhelix,hmmpanther:PTHR12107:SF3,hmmpanther:PTHR12107,Pfam_domain:PF13903,Prints_domain:PR01792																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	54	53942037	53942037	G	A	1	0	0	0	0	1	0	0	0	2250	1246	43	3		3	CACNG7	19	53942037	Missense_Mutation	SNP	G	C3N-00552_TP	21126420	53942037	4675579	38	17350											
RALGAPB	0	.	GRCh38	chr20	38524841	38524841	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgccatcctgtcttggcCagcgttattctaaactctcc	6	14	8	13	1	3	0	0	0	3	0	5	0	4	0	4	1	3	1	4	1	3	4	novel		C3N-00552_TP	C3N-00552_NB	C	C																c.1683C>T	p.=	p.A561A	ENST00000262879	11/30	254	221	33	296	296	0	strelka-varscan-mutect	RALGAPB,synonymous_variant,p.=,ENST00000262879,NM_001282917.1,NM_020336.3;RALGAPB,synonymous_variant,p.=,ENST00000397042,NM_001282918.1;RALGAPB,synonymous_variant,p.=,ENST00000397040,;RALGAPB,synonymous_variant,p.=,ENST00000438490,;RALGAPB,upstream_gene_variant,,ENST00000632792,;RALGAPB,non_coding_transcript_exon_variant,,ENST00000461423,;	T	ENST00000262879	Transcript	synonymous_variant	1967/8663	1683/4485	561/1494	A	gcC/gcT		1		1	RALGAPB	HGNC	HGNC:29221	protein_coding	YES	CCDS13305.1	ENSP00000262879	Q86X10		UPI000000DBFD	NM_001282917.1,NM_020336.3			11/30		hmmpanther:PTHR21344																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	54	38524841	38524841	C	T	1	0	0	0	0	0	0	0	1	13174	581	21	3		3	RALGAPB	20	38524841	Silent	SNP	C	C3N-00552_TP		38524841	25919326	39	17351											
MYH9	0	.	GRCh38	chr22	36312212	36312212	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagggccagaatgcccGgggggcctgcctggaggaag	8	3	18	12	1	0	1	0	0	0	1	0	3	0	3	5	6	3	1	5	6	2	0			C3N-00552_TP	C3N-00552_NB	G	G																c.1565C>G	p.Pro522Arg	p.P522R	ENST00000216181	14/41	217	193	24	169	169	0	strelka-varscan-mutect	MYH9,missense_variant,p.Pro522Arg,ENST00000216181,NM_002473.5;MYH9,downstream_gene_variant,,ENST00000477189,;	C	ENST00000216181	Transcript	missense_variant	1796/7501	1565/5883	522/1960	P/R	cCg/cGg	COSM3149655	1		-1	MYH9	HGNC	HGNC:7579	protein_coding	YES	CCDS13927.1	ENSP00000216181	P35579	A0A024R1N1	UPI000012FB80	NM_002473.5	deleterious(0)		14/41		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF317,SMART_domains:SM00242,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	54	36312212	36312212	G	C	1	0	0	0	0	1	0	0	0	10042	1116	39	4		4	MYH9	22	36312212	Missense_Mutation	SNP	G	C3N-00552_TP		36312212	14506256	40	17352											
XAGE3	0	.	GRCh38	chrX	52866496	52866497	+	Frame_Shift_Ins	INS	-	-	AGTT																															ggtgcaggatcccgactttcINSagttggtggttcctcttgct																								novel		C3N-00552_TP	C3N-00552_NB	-	-																c.120_123dupAACT	p.Glu42AsnfsTer2	p.E42Nfs*2	ENST00000346279	3/5	143	121	22	166	166	0	sindel-pindel	XAGE3,frameshift_variant,p.Glu42AsnfsTer2,ENST00000346279,NM_133179.2;XAGE3,frameshift_variant,p.Glu42AsnfsTer2,ENST00000375491,NM_130776.1;	AGTT	ENST00000346279	Transcript	frameshift_variant	194-195/497	123-124/336	41-42/111	-/NX	-/AACT		1		-1	XAGE3	HGNC	HGNC:14618	protein_coding	YES	CCDS14347.1	ENSP00000303061	Q8WTP9		UPI0000131BD0	NM_133179.2			3/5		Pfam_domain:PF05831,hmmpanther:PTHR14047,hmmpanther:PTHR14047:SF4,Low_complexity_(Seg):seg,SMART_domains:SM01379																	HIGH	1	insertion	1			1										PASS		.	.												AGTT	7	5	54	52866496	52866496	-	AGTT	1	0	1	1	0	0	0	0	0	17979	835	29	0		0	XAGE3	23	52866496	Frame_Shift_Ins	INS	-	C3N-00552_TP		52866496	103174399	41	17353											
P2RY4	0	.	GRCh38	chrX	70259329	70259329	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgccaaagggccagtggTtgtgggctgcataatagtag	10	9	15	7	0	0	0	0	0	0	0	0	0	0	0	2	3	2	4	2	3	4	4	novel		C3N-00552_TP	C3N-00552_NB	T	T																c.296A>G	p.Asn99Ser	p.N99S	ENST00000374519	1/1	268	213	55	320	320	0	strelka-varscan-mutect	P2RY4,missense_variant,p.Asn99Ser,ENST00000374519,NM_002565.3;	C	ENST00000374519	Transcript	missense_variant	436/1595	296/1098	99/365	N/S	aAc/aGc		1		-1	P2RY4	HGNC	HGNC:8542	protein_coding	YES	CCDS14398.1	ENSP00000363643	P51582		UPI000002E776	NM_002565.3	tolerated(0.2)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF21,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	54	70259329	70259329	T	C	1	0	0	0	0	1	0	0	0	11426	1725	60	5		5	P2RY4	23	70259329	Missense_Mutation	SNP	T	C3N-00552_TP	17392833	70259329	85781566	42	17354											
AGRN	0	.	GRCh38	chr1	1045510	1045510	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcatcgtcaccgatggccgGagtggctgtacacgtgagtg	7	8	16	10	4	1	1	1	1	0	0	2	3	1	2	2	4	1	3	2	4	1	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2523G>C	p.=	p.R841R	ENST00000379370	14/36	134	120	14	144	144	0	strelka-varscan-mutect	AGRN,synonymous_variant,p.=,ENST00000620552,NM_001305275.1;AGRN,synonymous_variant,p.=,ENST00000379370,NM_198576.3;AGRN,downstream_gene_variant,,ENST00000477585,;AGRN,non_coding_transcript_exon_variant,,ENST00000479707,;AGRN,downstream_gene_variant,,ENST00000469403,;AGRN,upstream_gene_variant,,ENST00000492947,;AGRN,upstream_gene_variant,,ENST00000466223,;AGRN,upstream_gene_variant,,ENST00000478677,;	C	ENST00000379370	Transcript	synonymous_variant	2573/7323	2523/6138	841/2045	R	cgG/cgC		1		1	AGRN	HGNC	HGNC:329	protein_coding	YES	CCDS30551.1	ENSP00000368678	O00468		UPI00001D7C8B	NM_198576.3			14/36		PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF288,SMART_domains:SM00180																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	55	1045510	1045510	G	C	1	0	0	0	0	0	0	0	1	476	1161	41	4		4	AGRN	1	1045510	Silent	SNP	G	C3N-00556_TP		1045510	247910912	1	17355											
MEGF6	0	.	GRCh38	chr1	3501090	3501090	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaccataccagcctgctggGcacactacaggcaggcgaga	11	4	13	13	1	0	1	0	0	0	1	0	3	0	2	3	4	4	3	3	4	2	2	rs776401705		C3N-00556_TP	C3N-00556_NB	G	G																c.2451C>A	p.Cys817Ter	p.C817*	ENST00000356575	20/37	191	173	18	212	212	0	strelka-varscan-mutect	MEGF6,stop_gained,p.Cys817Ter,ENST00000356575,NM_001409.3;MEGF6,stop_gained,p.Cys712Ter,ENST00000294599,;MEGF6,upstream_gene_variant,,ENST00000491842,;MEGF6,stop_gained,p.Cys824Ter,ENST00000485002,;	T	ENST00000356575	Transcript	stop_gained	2678/5455	2451/4626	817/1541	C/*	tgC/tgA	rs776401705	1		-1	MEGF6	HGNC	HGNC:3232	protein_coding	YES	CCDS41237.1	ENSP00000348982	O75095		UPI0000DACACB	NM_001409.3			20/37		PROSITE_patterns:PS01186,Gene3D:2gy5A03,SMART_domains:SM00180																	HIGH	1	SNV	1			1										PASS		rs776401705	.												T	4	4	55	3501090	3501090	G	T	1	0	0	0	0	0	1	0	0	9402	1217	42	2		2	MEGF6	1	3501090	Nonsense_Mutation	SNP	G	C3N-00556_TP	2455580	3501090	245455332	2	17356											
TP73	0	.	GRCh38	chr1	3730119	3730119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcctcccccgcacagttCggcagctacacccaacctgg	8	5	8	20	2	0	0	0	0	0	0	2	0	1	0	6	2	4	4	6	2	2	2	rs760067757		C3N-00556_TP	C3N-00556_NB	C	C																c.1316C>T	p.Ser439Leu	p.S439L	ENST00000378295	11/14	59	51	8	56	56	0	strelka-varscan-mutect	TP73,missense_variant,p.Ser439Leu,ENST00000378295,NM_005427.3,NM_001204185.1;TP73,missense_variant,p.Ser390Leu,ENST00000378288,NM_001204191.1,NM_001126240.2,NM_001204190.1;TP73,missense_variant,p.Ser439Leu,ENST00000354437,NM_001204184.1;TP73,missense_variant,p.Ser390Leu,ENST00000378285,NM_001126241.2;TP73,missense_variant,p.Ser368Leu,ENST00000378290,NM_001204192.1;TP73,intron_variant,,ENST00000357733,NM_001204187.1;TP73,intron_variant,,ENST00000346387,NM_001204188.1;TP73,intron_variant,,ENST00000604074,NM_001204189.1,NM_001204186.1;TP73,intron_variant,,ENST00000378280,NM_001126242.2;TP73,intron_variant,,ENST00000603362,;TP73,intron_variant,,ENST00000604479,;TP73,intron_variant,,ENST00000604566,;TP73,downstream_gene_variant,,ENST00000603364,;	T	ENST00000378295	Transcript	missense_variant	1471/5188	1316/1911	439/636	S/L	tCg/tTg	rs760067757,COSM3688827,COSM3688828	1		1	TP73	HGNC	HGNC:12003	protein_coding	YES	CCDS49.1	ENSP00000367545	O15350	A0A024R4C3	UPI000002E988	NM_005427.3,NM_001204185.1	deleterious(0.05)		11/14		hmmpanther:PTHR11447:SF21,hmmpanther:PTHR11447											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs760067757	.												T	3	4	55	3730119	3730119	C	T	1	0	0	0	0	1	0	0	0	16872	893	31	1		1	TP73	1	3730119	Missense_Mutation	SNP	C	C3N-00556_TP	229029	3730119	245226303	3	17357											
CHD5	0	.	GRCh38	chr1	6106496	6106496	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgttgctgtacatctgggagGagccgaaagcgccctggagg	8	8	16	9	2	1	0	0	0	1	0	1	4	1	3	2	4	4	3	2	4	2	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.5756C>G	p.Ser1919Cys	p.S1919C	ENST00000262450	40/42	201	189	12	215	215	0	strelka-varscan-mutect	CHD5,missense_variant,p.Ser1919Cys,ENST00000262450,NM_015557.2;CHD5,intron_variant,,ENST00000475121,;CHD5,3_prime_UTR_variant,,ENST00000496404,;CHD5,intron_variant,,ENST00000462991,;CHD5,intron_variant,,ENST00000377999,;	C	ENST00000262450	Transcript	missense_variant	5856/9646	5756/5865	1919/1954	S/C	tCc/tGc		1		-1	CHD5	HGNC	HGNC:16816	protein_coding	YES	CCDS57.1	ENSP00000262450	Q8TDI0		UPI000006CD03	NM_015557.2	tolerated_low_confidence(0.21)		40/42																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	6106496	6106496	G	C	1	0	0	0	0	1	0	0	0	3087	1174	41	4		4	CHD5	1	6106496	Missense_Mutation	SNP	G	C3N-00556_TP	2376377	6106496	242849926	4	17358											
TAS1R1	0	.	GRCh38	chr1	6575228	6575228	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaatcagctctgcagaGaatgccaagctttcatggca	12	8	10	11	0	3	1	2	0	1	1	3	2	3	1	1	1	5	6	1	1	3	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1096G>T	p.Glu366Ter	p.E366*	ENST00000333172	3/6	112	101	11	131	131	0	strelka-varscan-mutect	TAS1R1,stop_gained,p.Glu366Ter,ENST00000333172,NM_138697.3;TAS1R1,stop_gained,p.Glu292Ter,ENST00000411823,;TAS1R1,intron_variant,,ENST00000351136,NM_177540.2;TAS1R1,intron_variant,,ENST00000415267,;ZBTB48,upstream_gene_variant,,ENST00000377674,NM_005341.3,NM_001278647.1,NM_001278648.1;ZBTB48,upstream_gene_variant,,ENST00000319084,;ZBTB48,upstream_gene_variant,,ENST00000435905,;ZBTB48,upstream_gene_variant,,ENST00000488936,;	T	ENST00000333172	Transcript	stop_gained	1289/2892	1096/2526	366/841	E/*	Gaa/Taa		1		1	TAS1R1	HGNC	HGNC:14448	protein_coding	YES	CCDS81.1	ENSP00000331867	Q7RTX1		UPI000004737B	NM_138697.3			3/6		hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF3,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	55	6575228	6575228	G	T	1	0	0	0	0	0	1	0	0	15961	943	33	2		2	TAS1R1	1	6575228	Nonsense_Mutation	SNP	G	C3N-00556_TP	468732	6575228	242381194	5	17359											
SLC2A7	0	.	GRCh38	chr1	9010228	9010228	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgccgccgtcccagcCgctccacaaggacagcctgg	7	4	14	16	3	0	0	0	0	0	0	2	2	2	2	6	4	3	1	6	4	1	0	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1031G>T	p.Arg344Leu	p.R344L	ENST00000400906	9/12	139	126	13	133	132	1	strelka-varscan-mutect	SLC2A7,missense_variant,p.Arg344Leu,ENST00000400906,NM_207420.2;	A	ENST00000400906	Transcript	missense_variant	1031/1539	1031/1539	344/512	R/L	cGg/cTg		1		-1	SLC2A7	HGNC	HGNC:13445	protein_coding	YES	CCDS98.2	ENSP00000383698	Q6PXP3		UPI00001A73A8	NM_207420.2	tolerated(0.44)		9/12		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_patterns:PS00216,PROSITE_profiles:PS50850,hmmpanther:PTHR23503,hmmpanther:PTHR23503:SF30,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879																	MODERATE	1	SNV	1			1										PASS		rs1265865058	.												A	3	1	55	9010228	9010228	C	A	1	0	0	0	0	1	0	0	0	14820	652	23	1		1	SLC2A7	1	9010228	Missense_Mutation	SNP	C	C3N-00556_TP	2435000	9010228	239946194	6	17360											
AADACL3	0	.	GRCh38	chr1	12725322	12725322	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatgcatatggagtggatCcagcccgggttgtggtctgc	6	11	16	8	1	1	0	0	0	1	0	2	3	2	3	2	5	3	2	2	5	1	2			C3N-00556_TP	C3N-00556_NB	C	C																c.550C>A	p.Pro184Thr	p.P184T	ENST00000359318	4/4	174	153	21	231	231	0	strelka-varscan-mutect	AADACL3,missense_variant,p.Pro184Thr,ENST00000359318,NM_001103170.2;AADACL3,non_coding_transcript_exon_variant,,ENST00000620146,;	A	ENST00000359318	Transcript	missense_variant	584/3662	550/1224	184/407	P/T	Cca/Aca	COSM4021446,COSM4021447	1		1	AADACL3	HGNC	HGNC:32037	protein_coding	YES	CCDS41253.2	ENSP00000352268	Q5VUY0		UPI0003EAEC70	NM_001103170.2	deleterious(0)		4/4		Gene3D:3.40.50.1820,Pfam_domain:PF07859,PIRSF_domain:PIRSF037251,hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF115,Superfamily_domains:SSF53474											1,1						MODERATE	1	SNV	3		1,1	1										PASS		.	.												A	3	1	55	12725322	12725322	C	A	1	0	0	0	0	1	0	0	0	12	855	30	2		2	AADACL3	1	12725322	Missense_Mutation	SNP	C	C3N-00556_TP	3715094	12725322	236231100	7	17361											
ACTL8	0	.	GRCh38	chr1	17823084	17823084	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggccggctggaatgagcctCagatggtcttcccgaacatc	8	8	12	13	3	2	2	1	1	1	1	4	4	3	3	3	4	2	1	3	4	2	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.76C>T	p.Gln26Ter	p.Q26*	ENST00000375406	2/3	250	224	26	298	298	0	strelka-varscan-mutect	ACTL8,stop_gained,p.Gln26Ter,ENST00000375406,NM_030812.2;ACTL8,stop_gained,p.Gln26Ter,ENST00000617065,;	T	ENST00000375406	Transcript	stop_gained	292/1861	76/1101	26/366	Q/*	Cag/Tag		1		1	ACTL8	HGNC	HGNC:24018	protein_coding	YES	CCDS183.1	ENSP00000364555	Q9H568		UPI000007008F	NM_030812.2			2/3		hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF208,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	55	17823084	17823084	C	T	1	0	0	0	0	0	1	0	0	246	827	29	3		3	ACTL8	1	17823084	Nonsense_Mutation	SNP	C	C3N-00556_TP	5097762	17823084	231133338	8	17362											
ACTL8	0	.	GRCh38	chr1	17823227	17823227	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgagcggggccgcatcctCaactgggagggtgtgcagta	8	7	16	10	3	1	0	1	0	0	0	3	2	2	1	2	4	3	3	2	4	2	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.219C>G	p.=	p.L73L	ENST00000375406	2/3	337	301	36	314	314	0	strelka-varscan-mutect	ACTL8,synonymous_variant,p.=,ENST00000375406,NM_030812.2;ACTL8,synonymous_variant,p.=,ENST00000617065,;	G	ENST00000375406	Transcript	synonymous_variant	435/1861	219/1101	73/366	L	ctC/ctG		1		1	ACTL8	HGNC	HGNC:24018	protein_coding	YES	CCDS183.1	ENSP00000364555	Q9H568		UPI000007008F	NM_030812.2			2/3		hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF208,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	55	17823227	17823227	C	G	1	0	0	0	0	0	0	0	1	246	813	29	4		4	ACTL8	1	17823227	Silent	SNP	C	C3N-00556_TP	143	17823227	231133195	9	17363											
UBR4	0	.	GRCh38	chr1	19113764	19113764	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaatactcctgagccaactGcaggatgtaacgattcacac	14	8	7	12	1	1	1	1	1	0	0	2	3	2	2	2	1	5	2	2	1	4	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.11392C>T	p.Gln3798Ter	p.Q3798*	ENST00000375254	77/106	186	159	27	241	241	0	strelka-varscan-mutect	UBR4,stop_gained,p.Gln3798Ter,ENST00000375254,NM_020765.2;UBR4,3_prime_UTR_variant,,ENST00000375218,;UBR4,upstream_gene_variant,,ENST00000494503,;UBR4,upstream_gene_variant,,ENST00000466969,;	A	ENST00000375254	Transcript	stop_gained	11420/15906	11392/15552	3798/5183	Q/*	Cag/Tag		1		-1	UBR4	HGNC	HGNC:30313	protein_coding	YES	CCDS189.1	ENSP00000364403	Q5T4S7		UPI000021276F	NM_020765.2			77/106		hmmpanther:PTHR21725																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	55	19113764	19113764	G	A	1	0	0	0	0	0	1	0	0	17428	1328	46	3		3	UBR4	1	19113764	Nonsense_Mutation	SNP	G	C3N-00556_TP	1290537	19113764	229842658	10	17364											
HSPG2	0	.	GRCh38	chr1	21847798	21847798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgcccttccaccaccgtgGgggaagacgactcgatcctg	7	8	11	15	3	1	1	0	0	1	1	4	4	3	2	5	2	1	0	5	2	1	1	rs747900019		C3N-00556_TP	C3N-00556_NB	G	G																c.7916C>T	p.Pro2639Leu	p.P2639L	ENST00000374695	61/97	320	303	17	354	354	0	strelka-varscan-mutect	HSPG2,missense_variant,p.Pro2639Leu,ENST00000374695,NM_005529.6,NM_001291860.1;HSPG2,non_coding_transcript_exon_variant,,ENST00000453796,;HSPG2,downstream_gene_variant,,ENST00000493940,;	A	ENST00000374695	Transcript	missense_variant	7996/14327	7916/13176	2639/4391	P/L	cCc/cTc	rs747900019	1		-1	HSPG2	HGNC	HGNC:5273	protein_coding	YES	CCDS30625.1	ENSP00000363827	P98160		UPI0000212778	NM_005529.6,NM_001291860.1	deleterious(0.03)		61/97		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs747900019	.												A	3	1	55	21847798	21847798	G	A	1	0	0	0	0	1	0	0	0	7326	1232	43	3		3	HSPG2	1	21847798	Missense_Mutation	SNP	G	C3N-00556_TP	2734034	21847798	227108624	11	17365											
PNRC2	0	.	GRCh38	chr1	23961591	23961591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttcataagaaaaaagaaaGaggacatggttataactcat	19	10	8	4	0	2	3	2	0	0	3	2	4	2	4	0	2	1	2	0	2	7	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.134G>C	p.Arg45Thr	p.R45T	ENST00000334351	3/3	175	150	25	222	222	0	strelka-varscan-mutect	PNRC2,missense_variant,p.Arg45Thr,ENST00000334351,NM_017761.3;PNRC2,missense_variant,p.Arg45Thr,ENST00000374468,;SRSF10,downstream_gene_variant,,ENST00000344989,NM_006625.5,NM_001300937.1;SRSF10,downstream_gene_variant,,ENST00000453840,NM_001191007.2;PNRC2,downstream_gene_variant,,ENST00000471915,;PNRC2,downstream_gene_variant,,ENST00000579103,;SRSF10,downstream_gene_variant,,ENST00000341154,;	C	ENST00000334351	Transcript	missense_variant	545/2416	134/420	45/139	R/T	aGa/aCa		1		1	PNRC2	HGNC	HGNC:23158	protein_coding	YES	CCDS246.1	ENSP00000334840	Q9NPJ4	A0A024RAC2	UPI0000052C60	NM_017761.3	deleterious(0.04)		3/3		hmmpanther:PTHR15405,hmmpanther:PTHR15405:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	23961591	23961591	G	C	1	0	0	0	0	1	0	0	0	12283	942	33	4		4	PNRC2	1	23961591	Missense_Mutation	SNP	G	C3N-00556_TP	2113793	23961591	224994831	12	17366											
CNKSR1	0	.	GRCh38	chr1	26184489	26184489	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagcagggactccagggctCcctgaatcccctgacaaggt	9	7	12	13	0	0	2	0	2	0	0	3	3	3	3	4	3	1	3	4	3	3	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1110C>A	p.=	p.L370L	ENST00000374253	12/21	275	261	14	317	317	0	strelka-varscan-mutect	CNKSR1,synonymous_variant,p.=,ENST00000531191,NM_001297648.1;CNKSR1,synonymous_variant,p.=,ENST00000361530,NM_006314.2;CNKSR1,synonymous_variant,p.=,ENST00000374253,NM_001297647.1;CNKSR1,downstream_gene_variant,,ENST00000480348,;CNKSR1,downstream_gene_variant,,ENST00000528001,;CNKSR1,3_prime_UTR_variant,,ENST00000482227,;CNKSR1,3_prime_UTR_variant,,ENST00000525687,;CNKSR1,3_prime_UTR_variant,,ENST00000528281,;CNKSR1,downstream_gene_variant,,ENST00000481077,;CNKSR1,upstream_gene_variant,,ENST00000484874,;CNKSR1,downstream_gene_variant,,ENST00000465415,;CNKSR1,downstream_gene_variant,,ENST00000531150,;CNKSR1,downstream_gene_variant,,ENST00000524529,;CNKSR1,upstream_gene_variant,,ENST00000480617,;	A	ENST00000374253	Transcript	synonymous_variant	1149/2538	1110/2163	370/720	L	ctC/ctA		1		1	CNKSR1	HGNC	HGNC:19700	protein_coding	YES	CCDS72732.1	ENSP00000363371	Q969H4		UPI0000070054	NM_001297647.1			12/21		hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF10,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	26184489	26184489	C	A	1	0	0	0	0	0	0	0	1	3386	842	30	2		2	CNKSR1	1	26184489	Silent	SNP	C	C3N-00556_TP	2222898	26184489	222771933	13	17367											
RPS6KA1	0	.	GRCh38	chr1	26554227	26554227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attacagcatccttctggatGaggagggccacatcaaactc	12	9	9	11	0	2	1	1	1	1	0	4	3	3	3	2	3	3	1	2	3	2	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.616G>A	p.Glu206Lys	p.E206K	ENST00000531382	7/21	118	109	9	131	131	0	strelka-varscan-mutect	RPS6KA1,missense_variant,p.Glu197Lys,ENST00000374168,NM_002953.3;RPS6KA1,missense_variant,p.Glu197Lys,ENST00000374166,;RPS6KA1,missense_variant,p.Glu181Lys,ENST00000530003,;RPS6KA1,missense_variant,p.Glu105Lys,ENST00000526792,;RPS6KA1,missense_variant,p.Glu206Lys,ENST00000531382,NM_001006665.1;RPS6KA1,missense_variant,p.Glu105Lys,ENST00000529454,;RPS6KA1,upstream_gene_variant,,ENST00000403732,;MIR1976,upstream_gene_variant,,ENST00000459548,;RPS6KA1,upstream_gene_variant,,ENST00000488985,;RPS6KA1,3_prime_UTR_variant,,ENST00000374163,;RPS6KA1,non_coding_transcript_exon_variant,,ENST00000531113,;RPS6KA1,non_coding_transcript_exon_variant,,ENST00000527264,;RPS6KA1,downstream_gene_variant,,ENST00000474934,;RPS6KA1,downstream_gene_variant,,ENST00000366866,;RPS6KA1,downstream_gene_variant,,ENST00000530607,;RPS6KA1,downstream_gene_variant,,ENST00000524436,;RPS6KA1,downstream_gene_variant,,ENST00000526040,;	A	ENST00000531382	Transcript	missense_variant	665/2359	616/2235	206/744	E/K	Gag/Aag		1		1	RPS6KA1	HGNC	HGNC:10430	protein_coding	YES	CCDS30649.1	ENSP00000435412	Q15418		UPI000046D37A	NM_001006665.1	tolerated(0.14)		7/21		PROSITE_profiles:PS50011,hmmpanther:PTHR24351:SF43,hmmpanther:PTHR24351,PIRSF_domain:PIRSF000606,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	55	26554227	26554227	G	A	1	0	0	0	0	1	0	0	0	13905	1291	45	3		3	RPS6KA1	1	26554227	Missense_Mutation	SNP	G	C3N-00556_TP	369738	26554227	222402195	14	17368											
SYTL1	0	.	GRCh38	chr1	27347553	27347553	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtccgagcgtctatgcgcagGaagaagagcaccaggggtga	11	5	16	9	3	1	3	0	1	1	2	2	5	2	4	2	3	3	2	2	3	3	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.324G>A	p.=	p.R108R	ENST00000543823	2/14	177	163	14	195	195	0	strelka-varscan-mutect	SYTL1,synonymous_variant,p.=,ENST00000543823,;SYTL1,synonymous_variant,p.=,ENST00000318074,NM_032872.2;SYTL1,synonymous_variant,p.=,ENST00000616558,NM_001193308.1;SYTL1,synonymous_variant,p.=,ENST00000618673,;SYTL1,downstream_gene_variant,,ENST00000473280,;SYTL1,non_coding_transcript_exon_variant,,ENST00000490170,;SYTL1,non_coding_transcript_exon_variant,,ENST00000483926,;SYTL1,upstream_gene_variant,,ENST00000475199,;SYTL1,upstream_gene_variant,,ENST00000485269,;SYTL1,upstream_gene_variant,,ENST00000496001,;SYTL1,upstream_gene_variant,,ENST00000615284,;	A	ENST00000543823	Transcript	synonymous_variant	786/2229	324/1689	108/562	R	agG/agA		1		1	SYTL1	HGNC	HGNC:15584	protein_coding	YES	CCDS53286.1	ENSP00000440704	Q8IYJ3		UPI0000074245				2/14		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF11																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	27347553	27347553	G	A	1	0	0	0	0	0	0	0	1	15876	1165	41	3		3	SYTL1	1	27347553	Silent	SNP	G	C3N-00556_TP	793326	27347553	221608869	15	17369											
RCC1	0	.	GRCh38	chr1	28536773	28536773	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catacagcctgggccgggctGagtatgggcggctgggcctt	5	8	17	11	2	0	1	0	1	0	0	0	1	0	1	3	5	2	3	3	5	2	3			C3N-00556_TP	C3N-00556_NB	G	G																c.1057G>C	p.Glu353Gln	p.E353Q	ENST00000373831	10/11	115	109	6	133	133	0	strelka-mutect	RCC1,missense_variant,p.Glu322Gln,ENST00000373833,;RCC1,missense_variant,p.Glu322Gln,ENST00000398958,NM_001048199.2;RCC1,missense_variant,p.Glu322Gln,ENST00000373832,NM_001269.4;RCC1,missense_variant,p.Glu353Gln,ENST00000373831,NM_001048195.2,NM_001048194.2;RCC1,missense_variant,p.Glu339Gln,ENST00000411533,;RCC1,downstream_gene_variant,,ENST00000430407,;RCC1,downstream_gene_variant,,ENST00000434290,;RCC1,downstream_gene_variant,,ENST00000419074,;RCC1,downstream_gene_variant,,ENST00000427469,;RCC1,downstream_gene_variant,,ENST00000486790,;RCC1,downstream_gene_variant,,ENST00000429051,;RCC1,non_coding_transcript_exon_variant,,ENST00000478232,;	C	ENST00000373831	Transcript	missense_variant	1118/1577	1057/1359	353/452	E/Q	Gag/Cag	COSM3369676,COSM3369677	1		1	RCC1	HGNC	HGNC:1913	protein_coding	YES	CCDS41295.1	ENSP00000362937	P18754	A0A0S2Z404	UPI0000204066	NM_001048195.2,NM_001048194.2	tolerated(0.06)		10/11		Gene3D:2.130.10.30,Pfam_domain:PF00415,PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF179,Superfamily_domains:SSF50985											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	55	28536773	28536773	G	C	1	0	0	0	0	1	0	0	0	13342	1291	45	4		4	RCC1	1	28536773	Missense_Mutation	SNP	G	C3N-00556_TP	1189220	28536773	220419649	16	17370											
ZCCHC17	0	.	GRCh38	chr1	31348865	31348865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtttcatgcaaccaggtgGgactaaatactctctgatac	11	13	8	9	0	2	1	1	1	1	0	3	2	2	2	1	2	4	2	1	2	5	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.521G>A	p.Gly174Glu	p.G174E	ENST00000615916	6/7	181	171	10	199	199	0	varscan-mutect	ZCCHC17,missense_variant,p.Gly152Glu,ENST00000373714,NM_001282568.1;ZCCHC17,missense_variant,p.Gly144Glu,ENST00000546109,NM_001282569.1;ZCCHC17,missense_variant,p.Gly174Glu,ENST00000615916,NM_001282566.1;ZCCHC17,missense_variant,p.Gly152Glu,ENST00000344147,NM_016505.3;ZCCHC17,missense_variant,p.Gly90Glu,ENST00000616393,NM_001282571.1;ZCCHC17,missense_variant,p.Gly154Glu,ENST00000627541,NM_001282570.1,NM_001282567.1;ZCCHC17,intron_variant,,ENST00000618216,NM_001282572.1,NM_001282574.1;ZCCHC17,intron_variant,,ENST00000616859,NM_001282573.1;RP11-266K22.2,upstream_gene_variant,,ENST00000430143,;ZCCHC17,non_coding_transcript_exon_variant,,ENST00000479629,;	A	ENST00000615916	Transcript	missense_variant	621/1652	521/792	174/263	G/E	gGg/gAg		1		1	ZCCHC17	HGNC	HGNC:30246	protein_coding	YES	CCDS72741.1	ENSP00000480986		A0A087WXF8	UPI0003940499	NM_001282566.1	deleterious(0.01)		6/7		hmmpanther:PTHR15838																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	31348865	31348865	G	A	1	0	0	0	0	1	0	0	0	18160	1232	43	3		3	ZCCHC17	1	31348865	Missense_Mutation	SNP	G	C3N-00556_TP	2812092	31348865	217607557	17	17371											
CSMD2	0	.	GRCh38	chr1	33600919	33600919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcacggtggaacttgaGcaggacctggttggatgaac	10	9	14	8	1	1	2	1	2	0	0	1	5	1	5	1	5	4	3	1	5	2	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.6802C>T	p.Leu2268Phe	p.L2268F	ENST00000373381	44/71	250	237	13	259	259	0	strelka-varscan-mutect	CSMD2,missense_variant,p.Leu2268Phe,ENST00000373381,NM_001281956.1;CSMD2,missense_variant,p.Leu2228Phe,ENST00000619121,;CSMD2,missense_variant,p.Leu2270Phe,ENST00000373388,NM_052896.4;CSMD2,missense_variant,p.Leu1141Phe,ENST00000373380,;CSMD2,missense_variant,p.Leu367Phe,ENST00000373377,;CSMD2,non_coding_transcript_exon_variant,,ENST00000489419,;CSMD2,missense_variant,p.Leu2270Phe,ENST00000241312,;	A	ENST00000373381	Transcript	missense_variant	6979/13698	6802/10896	2268/3631	L/F	Ctc/Ttc		1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1	tolerated(0.05)		44/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	33600919	33600919	G	A	1	0	0	0	0	1	0	0	0	3746	971	34	3		3	CSMD2	1	33600919	Missense_Mutation	SNP	G	C3N-00556_TP	2252054	33600919	215355503	18	17372											
MYCL	0	.	GRCh38	chr1	39897418	39897418	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgcaactgctgctgcCggcatcggagctgtcttttc	4	15	10	12	2	2	0	0	0	2	0	4	1	2	1	1	2	6	5	1	2	1	4	rs561113951		C3N-00556_TP	C3N-00556_NB	C	C																c.1139G>T	p.Arg380Leu	p.R380L	ENST00000397332	3/3	54	49	5	85	84	1	strelka-varscan-mutect	MYCL,missense_variant,p.Arg380Leu,ENST00000397332,NM_001033082.2;MYCL,missense_variant,p.Arg350Leu,ENST00000372816,NM_001033081.2;MYCL,downstream_gene_variant,,ENST00000372815,NM_005376.4;MYCL,downstream_gene_variant,,ENST00000450953,;RP1-118J21.5,upstream_gene_variant,,ENST00000418255,;	A	ENST00000397332	Transcript	missense_variant	1264/3256	1139/1185	380/394	R/L	cGg/cTg	rs561113951	1		-1	MYCL	HGNC	HGNC:7555	protein_coding	YES	CCDS53300.1	ENSP00000380494	P12524		UPI000047097E	NM_001033082.2	deleterious(0)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR11514,hmmpanther:PTHR11514:SF1,Gene3D:4.10.280.10,Superfamily_domains:SSF47459																	MODERATE	1	SNV	1			1										PASS		rs561113951	.												A	3	1	55	39897418	39897418	C	A	1	0	0	0	0	1	0	0	0	10020	652	23	1		1	MYCL	1	39897418	Missense_Mutation	SNP	C	C3N-00556_TP	6296499	39897418	209059004	19	17373											
MFSD2A	0	.	GRCh38	chr1	39967669	39967669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccatctggcagtggttcttGacccggtttggcaagaagac	8	10	12	11	1	2	3	0	1	2	2	2	3	2	3	2	4	0	4	2	4	2	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1092G>C	p.Leu364Phe	p.L364F	ENST00000372809	10/14	273	258	15	323	323	0	strelka-varscan-mutect	MFSD2A,missense_variant,p.Leu364Phe,ENST00000372809,NM_001136493.2;MFSD2A,missense_variant,p.Leu351Phe,ENST00000372811,NM_032793.4,NM_001287809.1;MFSD2A,missense_variant,p.Leu195Phe,ENST00000420632,NM_001287808.1;MFSD2A,downstream_gene_variant,,ENST00000434861,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000480630,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000481612,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000491515,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000459917,;MFSD2A,intron_variant,,ENST00000483824,;MFSD2A,downstream_gene_variant,,ENST00000469745,;RP3-342P20.2,downstream_gene_variant,,ENST00000438210,;	C	ENST00000372809	Transcript	missense_variant	1235/2173	1092/1632	364/543	L/F	ttG/ttC		1		1	MFSD2A	HGNC	HGNC:25897	protein_coding	YES	CCDS44118.1	ENSP00000361895	Q8NA29		UPI0000072562	NM_001136493.2	deleterious(0)		10/14		hmmpanther:PTHR11328:SF29,hmmpanther:PTHR11328,Pfam_domain:PF13347,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	55	39967669	39967669	G	C	1	0	0	0	0	1	0	0	0	9487	1281	45	4		4	MFSD2A	1	39967669	Missense_Mutation	SNP	G	C3N-00556_TP	70251	39967669	208988753	20	17374											
KIF2C	0	.	GRCh38	chr1	44759319	44759319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactctgctgatgatgtcatCaagatgatcgacatgggcag	12	10	11	8	1	3	4	2	3	1	1	4	5	3	4	0	1	2	2	0	1	2	0	rs867051345		C3N-00556_TP	C3N-00556_NB	C	C																c.1338C>G	p.Ile446Met	p.I446M	ENST00000372224	14/21	177	150	27	163	163	0	strelka-varscan-mutect	KIF2C,missense_variant,p.Ile392Met,ENST00000372217,NM_001297657.1,NM_001297656.1;KIF2C,missense_variant,p.Ile446Met,ENST00000372224,NM_006845.3,NM_001297655.1;KIF2C,downstream_gene_variant,,ENST00000452259,;KIF2C,downstream_gene_variant,,ENST00000455186,;KIF2C,upstream_gene_variant,,ENST00000423289,;RP11-269F19.2,non_coding_transcript_exon_variant,,ENST00000428791,;RP11-269F19.2,non_coding_transcript_exon_variant,,ENST00000440985,;KIF2C,downstream_gene_variant,,ENST00000493027,;KIF2C,upstream_gene_variant,,ENST00000472235,;	G	ENST00000372224	Transcript	missense_variant	1451/2879	1338/2178	446/725	I/M	atC/atG	rs867051345	1		1	KIF2C	HGNC	HGNC:6393	protein_coding	YES	CCDS512.1	ENSP00000361298	Q99661	A0A140VKF1	UPI000012DDAD	NM_006845.3,NM_001297655.1	deleterious(0.03)		14/21		PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF454,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs867051345	.												G	3	3	55	44759319	44759319	C	G	1	0	0	0	0	1	0	0	0	8164	816	29	4		4	KIF2C	1	44759319	Missense_Mutation	SNP	C	C3N-00556_TP	4791650	44759319	204197103	21	17375											
LURAP1	0	.	GRCh38	chr1	46220112	46220112	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtggaagcccccaggggaGaggcttcaaggtggaccacc	9	5	16	11	0	1	1	1	0	0	1	1	4	1	3	4	6	1	1	4	6	2	1	rs189814441		C3N-00556_TP	C3N-00556_NB	G	G																c.612G>A	p.=	p.E204E	ENST00000371980	2/2	195	178	17	248	248	0	strelka-varscan-mutect	LURAP1,synonymous_variant,p.=,ENST00000371980,NM_001013615.2;POMGNT1,5_prime_UTR_variant,,ENST00000396420,;POMGNT1,5_prime_UTR_variant,,ENST00000371992,NM_001243766.1;	A	ENST00000371980	Transcript	synonymous_variant	705/1854	612/720	204/239	E	gaG/gaA	rs189814441,COSM51134	1		1	LURAP1	HGNC	HGNC:32327	protein_coding	YES	CCDS30703.1	ENSP00000361048	Q96LR2		UPI0000072C34	NM_001013615.2			2/2		hmmpanther:PTHR33767											0,1						LOW	1	SNV	1		0,1	1										PASS		rs189814441	.												A	2	1	55	46220112	46220112	G	A	1	0	0	0	0	0	0	0	1	8993	933	33	3		3	LURAP1	1	46220112	Silent	SNP	G	C3N-00556_TP	1460793	46220112	202736310	22	17376											
OSBPL9	0	.	GRCh38	chr1	51772687	51772687	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagagcgttatcatgcatctCttgtcgcaggttagacttgg	9	13	11	8	2	2	2	1	0	1	2	4	2	2	2	0	2	2	4	0	2	3	4			C3N-00556_TP	C3N-00556_NB	C	C																c.1164C>G	p.=	p.L388L	ENST00000447887	14/24	153	139	14	184	184	0	strelka-varscan-mutect	OSBPL9,synonymous_variant,p.=,ENST00000371714,NM_148908.3;OSBPL9,synonymous_variant,p.=,ENST00000447887,NM_148909.3;OSBPL9,synonymous_variant,p.=,ENST00000428468,NM_024586.5;OSBPL9,synonymous_variant,p.=,ENST00000453295,NM_148906.2;OSBPL9,synonymous_variant,p.=,ENST00000462759,NM_148904.3;OSBPL9,synonymous_variant,p.=,ENST00000361556,NM_148907.2;OSBPL9,synonymous_variant,p.=,ENST00000486942,NM_148905.3;OSBPL9,synonymous_variant,p.=,ENST00000531828,;OSBPL9,non_coding_transcript_exon_variant,,ENST00000533825,;OSBPL9,3_prime_UTR_variant,,ENST00000495776,;OSBPL9,3_prime_UTR_variant,,ENST00000435274,;OSBPL9,3_prime_UTR_variant,,ENST00000489990,;OSBPL9,3_prime_UTR_variant,,ENST00000528603,;OSBPL9,3_prime_UTR_variant,,ENST00000531061,;OSBPL9,non_coding_transcript_exon_variant,,ENST00000531819,;OSBPL9,non_coding_transcript_exon_variant,,ENST00000475697,;	G	ENST00000447887	Transcript	synonymous_variant	1183/2940	1164/2241	388/746	L	ctC/ctG	COSM5201283,COSM5201284,COSM5201285,COSM5201286,COSM5201287,COSM5201288	1		1	OSBPL9	HGNC	HGNC:16386	protein_coding	YES	CCDS44145.1	ENSP00000412733	Q96SU4		UPI0000167BAD	NM_148909.3			14/24		hmmpanther:PTHR10972:SF27,hmmpanther:PTHR10972,Pfam_domain:PF01237,Superfamily_domains:0051579											1,1,1,1,1,1						LOW	1	SNV	2		1,1,1,1,1,1	1										PASS		.	.												G	2	3	55	51772687	51772687	C	G	1	0	0	0	0	0	0	0	1	11350	900	32	4		4	OSBPL9	1	51772687	Silent	SNP	C	C3N-00556_TP	5552575	51772687	197183735	23	17377											
C8B	0	.	GRCh38	chr1	56952090	56952090	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtagggcttcctaaacctCgtgttcaggatgtaatgcgg	8	13	12	8	2	1	0	1	0	0	0	3	1	2	1	2	3	2	4	2	3	4	6	rs148088012		C3N-00556_TP	C3N-00556_NB	C	C																c.624G>A	p.=	p.T208T	ENST00000371237	5/12	411	384	27	494	493	1	strelka-varscan-mutect	C8B,synonymous_variant,p.=,ENST00000543257,NM_001278543.1;C8B,synonymous_variant,p.=,ENST00000535057,NM_001278544.1;C8B,synonymous_variant,p.=,ENST00000371237,NM_000066.3;C8B,downstream_gene_variant,,ENST00000468990,;	T	ENST00000371237	Transcript	synonymous_variant	691/2037	624/1776	208/591	T	acG/acA	rs148088012,COSM3491217	1		-1	C8B	HGNC	HGNC:1353	protein_coding	YES	CCDS30730.1	ENSP00000360281	P07358		UPI000013C9B2	NM_000066.3			5/12		PROSITE_profiles:PS51412,hmmpanther:PTHR19325:SF385,hmmpanther:PTHR19325											0,1						LOW	1	SNV	1		0,1	1										PASS		rs148088012	.												T	2	4	55	56952090	56952090	C	T	1	0	0	0	0	0	0	0	1	2151	871	31	1		1	C8B	1	56952090	Silent	SNP	C	C3N-00556_TP	5179403	56952090	192004332	24	17378											
LRRC53	0	.	GRCh38	chr1	74472202	74472202	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatatgtcactgctgatatCtgtggaacaataaatgcaag	16	11	8	6	0	2	1	1	1	1	0	2	2	2	2	0	1	3	2	0	1	8	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1421-1G>C		p.X474_splice	ENST00000294635		123	114	9	126	126	0	strelka-varscan-mutect	LRRC53,splice_acceptor_variant,,ENST00000294635,;TNNI3K,intron_variant,,ENST00000326637,NM_015978.2;FPGT-TNNI3K,intron_variant,,ENST00000557284,NM_001112808.2;RP4-650F12.2,downstream_gene_variant,,ENST00000442876,;RP4-650F12.2,downstream_gene_variant,,ENST00000411417,;	G	ENST00000294635	Transcript	splice_acceptor_variant	-/3859	1421/3744	474/1247				1		-1	LRRC53	HGNC	HGNC:25255	protein_coding	YES		ENSP00000294635	A6NM62		UPI000178DEDE					4/4																		HIGH		SNV	5			1										PASS		.	.												G	5	3	55	74472202	74472202	C	G	1	0	0	0	0	0	0	1	0	8905	927	32	4		4	LRRC53	1	74472202	Splice_Site	SNP	C	C3N-00556_TP	17520112	74472202	174484220	25	17379											
ERICH3	0	.	GRCh38	chr1	74606732	74606732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgagctgaaaatttggctGaaacagaggttttgttctcc	10	14	10	7	0	1	4	0	3	1	1	2	4	1	4	1	2	2	4	1	2	3	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1358C>T	p.Ser453Leu	p.S453L	ENST00000326665	10/15	279	252	27	320	320	0	strelka-varscan-mutect	ERICH3,missense_variant,p.Ser453Leu,ENST00000326665,NM_001002912.4;ERICH3,missense_variant,p.Ser256Leu,ENST00000420661,;ERICH3-AS1,intron_variant,,ENST00000612390,;ERICH3-AS1,intron_variant,,ENST00000416017,;	A	ENST00000326665	Transcript	missense_variant	1577/7159	1358/4593	453/1530	S/L	tCa/tTa		1		-1	ERICH3	HGNC	HGNC:25346	protein_coding	YES	CCDS30755.1	ENSP00000322609	Q5RHP9		UPI0000237200	NM_001002912.4	tolerated(0.11)		10/15		hmmpanther:PTHR23034																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	55	74606732	74606732	G	A	1	0	0	0	0	1	0	0	0	5083	1294	45	3		3	ERICH3	1	74606732	Missense_Mutation	SNP	G	C3N-00556_TP	134530	74606732	174349690	26	17380											
COL11A1	0	.	GRCh38	chr1	103031127	103031127	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcctcacctcatctatctGaggttcctgagcttgagcag	7	12	9	13	0	4	3	2	3	2	0	6	3	6	3	3	1	2	4	3	1	1	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.769C>T	p.Gln257Ter	p.Q257*	ENST00000370096	5/67	235	215	20	288	287	1	strelka-varscan-mutect	COL11A1,stop_gained,p.Gln257Ter,ENST00000358392,NM_080629.2;COL11A1,stop_gained,p.Gln257Ter,ENST00000370096,NM_001854.3;COL11A1,stop_gained,p.Gln257Ter,ENST00000353414,NM_001190709.1;COL11A1,stop_gained,p.Gln257Ter,ENST00000512756,NM_080630.3;COL11A1,stop_gained,p.Gln257Ter,ENST00000427239,;COL11A1,stop_gained,p.Gln184Ter,ENST00000447608,;COL11A1,stop_gained,p.Gln30Ter,ENST00000635193,;	A	ENST00000370096	Transcript	stop_gained	1082/7286	769/5421	257/1806	Q/*	Cag/Tag		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3			5/67																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	55	103031127	103031127	G	A	1	0	0	0	0	0	1	0	0	3455	1299	45	3		3	COL11A1	1	103031127	Nonsense_Mutation	SNP	G	C3N-00556_TP	28424395	103031127	145925295	27	17381											
MYBPHL	0	.	GRCh38	chr1	109297127	109297127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcttggggcggtgtccattCcagtgtagcgctgaagcccc	6	10	13	12	2	1	1	0	1	1	0	3	1	3	1	4	3	2	2	4	3	2	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.493G>C	p.Glu165Gln	p.E165Q	ENST00000357155	4/9	257	242	15	264	264	0	strelka-varscan-mutect	MYBPHL,missense_variant,p.Glu165Gln,ENST00000357155,NM_001010985.2,NM_001265613.1;MYBPHL,intron_variant,,ENST00000477962,;MYBPHL,upstream_gene_variant,,ENST00000489706,;	G	ENST00000357155	Transcript	missense_variant	543/1372	493/1065	165/354	E/Q	Gaa/Caa		1		-1	MYBPHL	HGNC	HGNC:30434	protein_coding	YES	CCDS30793.1	ENSP00000349678	A2RUH7		UPI000022B031	NM_001010985.2,NM_001265613.1	deleterious(0.04)		4/9		Gene3D:2.60.40.10,Pfam_domain:PF00041,Prints_domain:PR00014,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	109297127	109297127	C	G	1	0	0	0	0	1	0	0	0	10015	864	30	4		4	MYBPHL	1	109297127	Missense_Mutation	SNP	C	C3N-00556_TP	6266000	109297127	139659295	28	17382											
MOV10	0	.	GRCh38	chr1	112698362	112698362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccatccttcttcaaccctGaagaggctgccacagtgact	9	9	8	15	0	2	3	1	2	1	1	3	3	3	3	4	1	2	1	4	1	2	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2392G>C	p.Glu798Gln	p.E798Q	ENST00000413052	16/21	186	155	31	196	196	0	strelka-varscan-mutect	MOV10,missense_variant,p.Glu742Gln,ENST00000369644,NM_001286072.1;MOV10,missense_variant,p.Glu798Gln,ENST00000413052,NM_020963.4;MOV10,missense_variant,p.Glu798Gln,ENST00000369645,NM_001321324.1,NM_001130079.2;MOV10,missense_variant,p.Glu798Gln,ENST00000357443,;RHOC,downstream_gene_variant,,ENST00000285735,;RHOC,downstream_gene_variant,,ENST00000339083,NM_175744.4;RHOC,downstream_gene_variant,,ENST00000369642,NM_001042678.1;RHOC,downstream_gene_variant,,ENST00000369633,NM_001042679.1;RHOC,downstream_gene_variant,,ENST00000369638,;RHOC,downstream_gene_variant,,ENST00000369632,;RHOC,downstream_gene_variant,,ENST00000369637,;RHOC,downstream_gene_variant,,ENST00000425265,;RP11-426L16.10,downstream_gene_variant,,ENST00000606505,;RHOC,downstream_gene_variant,,ENST00000369636,;RP11-426L16.10,downstream_gene_variant,,ENST00000605933,;RHOC,downstream_gene_variant,,ENST00000534717,;RHOC,downstream_gene_variant,,ENST00000484054,;RHOC,downstream_gene_variant,,ENST00000436685,;RHOC,downstream_gene_variant,,ENST00000414971,;RP11-426L16.3,upstream_gene_variant,,ENST00000421943,;MOV10,non_coding_transcript_exon_variant,,ENST00000468624,;MOV10,non_coding_transcript_exon_variant,,ENST00000496577,;MOV10,non_coding_transcript_exon_variant,,ENST00000490413,;MOV10,non_coding_transcript_exon_variant,,ENST00000488160,;MOV10,non_coding_transcript_exon_variant,,ENST00000471160,;MOV10,non_coding_transcript_exon_variant,,ENST00000482545,;MOV10,non_coding_transcript_exon_variant,,ENST00000481711,;RP11-426L16.10,downstream_gene_variant,,ENST00000471038,;MOV10,upstream_gene_variant,,ENST00000494319,;MOV10,upstream_gene_variant,,ENST00000495374,;MOV10,downstream_gene_variant,,ENST00000479858,;RHOC,downstream_gene_variant,,ENST00000468093,;RHOC,downstream_gene_variant,,ENST00000473074,;RHOC,downstream_gene_variant,,ENST00000484280,;RP11-426L16.10,downstream_gene_variant,,ENST00000607158,;RP11-426L16.10,downstream_gene_variant,,ENST00000606954,;RHOC,downstream_gene_variant,,ENST00000528831,;	C	ENST00000413052	Transcript	missense_variant	2782/3641	2392/3012	798/1003	E/Q	Gaa/Caa		1		1	MOV10	HGNC	HGNC:7200	protein_coding	YES	CCDS853.1	ENSP00000399797	Q9HCE1		UPI000012FA84	NM_020963.4	tolerated(0.54)		16/21		Gene3D:3.40.50.300,Pfam_domain:PF13087,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF322,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	112698362	112698362	G	C	1	0	0	0	0	1	0	0	0	9680	1291	45	4		4	MOV10	1	112698362	Missense_Mutation	SNP	G	C3N-00556_TP	3401235	112698362	136258060	29	17383											
HIST2H2AC	0	.	GRCh38	chr1	149887143	149887143	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctacatggcggcggtcctcGagtacctgaccgccgagatc	7	8	12	14	5	1	2	0	1	1	1	4	4	2	2	4	3	2	1	4	3	2	2			C3N-00556_TP	C3N-00556_NB	G	G																c.169G>C	p.Glu57Gln	p.E57Q	ENST00000331380	1/1	521	487	34	451	450	1	varscan-mutect	HIST2H2AC,missense_variant,p.Glu57Gln,ENST00000331380,NM_003517.2;HIST2H2BE,upstream_gene_variant,,ENST00000369155,NM_003528.2;BOLA1,upstream_gene_variant,,ENST00000369153,;HIST2H2AB,downstream_gene_variant,,ENST00000331128,NM_175065.2;	C	ENST00000331380	Transcript	missense_variant	169/390	169/390	57/129	E/Q	Gag/Cag	COSM383719	1		1	HIST2H2AC	HGNC	HGNC:4738	protein_coding	YES	CCDS937.1	ENSP00000332194	Q16777		UPI000007478F	NM_003517.2	deleterious_low_confidence(0)		1/1		Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00620,hmmpanther:PTHR23430,SMART_domains:SM00414,Superfamily_domains:SSF47113											1						MODERATE		SNV			1	1										PASS		.	.												C	3	2	55	149887143	149887143	G	C	1	0	0	0	0	1	0	0	0	7066	1059	37	4		4	HIST2H2AC	1	149887143	Missense_Mutation	SNP	G	C3N-00556_TP	37188781	149887143	99069279	30	17384											
SV2A	0	.	GRCh38	chr1	149906784	149906784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtccctgtcacgtctagcGggcagccctccttgttgtgc	3	11	11	16	3	2	0	1	0	1	0	4	0	4	0	4	1	3	2	4	1	1	3	rs149927876		C3N-00556_TP	C3N-00556_NB	G	G																c.1751C>A	p.Pro584Gln	p.P584Q	ENST00000369146	11/13	465	366	99	373	373	0	strelka-varscan-mutect	SV2A,missense_variant,p.Pro584Gln,ENST00000369146,NM_014849.4;SV2A,missense_variant,p.Pro584Gln,ENST00000369145,;	T	ENST00000369146	Transcript	missense_variant	2242/4416	1751/2229	584/742	P/Q	cCg/cAg	rs149927876	1		-1	SV2A	HGNC	HGNC:20566	protein_coding	YES	CCDS940.1	ENSP00000358142	Q7L0J3		UPI000000DAD2	NM_014849.4	tolerated(1)		11/13		PROSITE_profiles:PS50850,hmmpanther:PTHR23511,hmmpanther:PTHR23511:SF11,TIGRFAM_domain:TIGR01299																	MODERATE	1	SNV	1			1										PASS		rs149927876	.												T	3	4	55	149906784	149906784	G	T	1	0	0	0	0	1	0	0	0	15801	1116	39	1		1	SV2A	1	149906784	Missense_Mutation	SNP	G	C3N-00556_TP	19641	149906784	99049638	31	17385											
ZNF687	0	.	GRCh38	chr1	151287794	151287794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagcctggtggaggccttCaacaagatcctcaacagcaa	12	7	9	13	0	2	1	2	0	0	1	4	2	4	2	4	3	4	1	4	3	4	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1503C>G	p.Phe501Leu	p.F501L	ENST00000324048	3/10	300	273	27	231	231	0	strelka-mutect	ZNF687,missense_variant,p.Phe501Leu,ENST00000324048,NM_001304763.1;ZNF687,missense_variant,p.Phe501Leu,ENST00000336715,NM_001304764.1,NM_020832.2;ZNF687,missense_variant,p.Phe104Leu,ENST00000426871,;PI4KB,downstream_gene_variant,,ENST00000368875,NM_002651.2;PI4KB,downstream_gene_variant,,ENST00000368874,NM_001198774.1;PI4KB,downstream_gene_variant,,ENST00000368873,;PI4KB,downstream_gene_variant,,ENST00000368872,NM_001198773.1;PI4KB,downstream_gene_variant,,ENST00000529142,NM_001198775.1;PI4KB,downstream_gene_variant,,ENST00000455060,;ZNF687,downstream_gene_variant,,ENST00000443959,;ZNF687,upstream_gene_variant,,ENST00000436614,;PI4KB,downstream_gene_variant,,ENST00000446339,;ZNF687,missense_variant,p.Phe501Leu,ENST00000449313,;ZNF687,upstream_gene_variant,,ENST00000459919,;	G	ENST00000324048	Transcript	missense_variant	2473/5378	1503/3714	501/1237	F/L	ttC/ttG		1		1	ZNF687	HGNC	HGNC:29277	protein_coding	YES	CCDS992.1	ENSP00000319829	Q8N1G0		UPI00000721F7	NM_001304763.1	deleterious(0)		3/10		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF108																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	151287794	151287794	C	G	1	0	0	0	0	1	0	0	0	18665	825	29	4		4	ZNF687	1	151287794	Missense_Mutation	SNP	C	C3N-00556_TP	1381010	151287794	97668628	32	17386											
LCE1F	0	.	GRCh38	chr1	152776542	152776542	+	Silent	SNP	G	G	T																															tgctgtggctccagctctggGggctgctgcagctctggggg																								novel		C3N-00556_TP	C3N-00556_NB	G	G																c.171G>T	p.=	p.G57G	ENST00000334371	1/1	374	320	54	302	302	0	strelka-varscan-mutect	LCE1F,synonymous_variant,p.=,ENST00000334371,NM_178354.2;	T	ENST00000334371	Transcript	synonymous_variant	171/357	171/357	57/118	G	ggG/ggT		1		1	LCE1F	HGNC	HGNC:29467	protein_coding	YES	CCDS1023.1	ENSP00000334187	Q5T754		UPI0000192764	NM_178354.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23263,Pfam_domain:PF14672																	LOW	1	SNV				1										PASS		rs1276128418	.												T	2	4	55	152776542	152776542	G	T	1	0	0	0	0	0	0	0	1	8569	1219	43	2		2	LCE1F	1	152776542	Silent	SNP	G	C3N-00556_TP	1488748	152776542	96179880	33	17387	375	2									
LCE1F	0	.	GRCh38	chr1	152776543	152776543	+	Missense_Mutation	SNP	G	G	T																															gctgtggctccagctctgggGgctgctgcagctctgggggt																										C3N-00556_TP	C3N-00556_NB	G	G																c.172G>T	p.Gly58Cys	p.G58C	ENST00000334371	1/1	367	314	53	297	297	0	strelka-varscan-mutect	LCE1F,missense_variant,p.Gly58Cys,ENST00000334371,NM_178354.2;	T	ENST00000334371	Transcript	missense_variant	172/357	172/357	58/118	G/C	Ggc/Tgc	COSM3667353	1		1	LCE1F	HGNC	HGNC:29467	protein_coding	YES	CCDS1023.1	ENSP00000334187	Q5T754		UPI0000192764	NM_178354.2	deleterious_low_confidence(0)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23263,Pfam_domain:PF14672											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	55	152776543	152776543	G	T	1	0	0	0	0	1	0	0	0	8569	1232	43	2		2	LCE1F	1	152776543	Missense_Mutation	SNP	G	C3N-00556_TP	1	152776543	96179879	34	17388	375	2									
MEF2D	0	.	GRCh38	chr1	156468931	156468931	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggggctgctgtggctGttgccaggcagtgacattgc	4	11	16	10	0	0	1	0	1	0	0	0	1	0	1	1	4	4	6	1	4	0	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1096C>T	p.Gln366Ter	p.Q366*	ENST00000348159	10/12	231	218	13	169	169	0	strelka-varscan-mutect	MEF2D,stop_gained,p.Gln366Ter,ENST00000348159,NM_005920.3;MEF2D,stop_gained,p.Gln358Ter,ENST00000464356,;MEF2D,stop_gained,p.Gln359Ter,ENST00000360595,NM_001271629.1;MEF2D,3_prime_UTR_variant,,ENST00000368240,;MEF2D,3_prime_UTR_variant,,ENST00000475587,;	A	ENST00000348159	Transcript	stop_gained	1577/5965	1096/1566	366/521	Q/*	Cag/Tag		1		-1	MEF2D	HGNC	HGNC:6997	protein_coding	YES	CCDS1143.1	ENSP00000271555	Q14814		UPI000012EEB6	NM_005920.3			10/12		Low_complexity_(Seg):seg,hmmpanther:PTHR11945:SF23,hmmpanther:PTHR11945																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	55	156468931	156468931	G	A	1	0	0	0	0	0	1	0	0	9398	1386	48	3		3	MEF2D	1	156468931	Nonsense_Mutation	SNP	G	C3N-00556_TP	3692388	156468931	92487491	35	17389											
CD1A	0	.	GRCh38	chr1	158257016	158257016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcagctgacctgtcctgtCgggtgaagcacagcagtcta	9	8	13	11	1	1	2	0	2	1	0	3	2	2	2	2	2	3	4	2	2	2	1	rs141426527		C3N-00556_TP	C3N-00556_NB	C	C																c.835C>T	p.Arg279Trp	p.R279W	ENST00000289429	4/6	125	88	37	107	107	0	strelka-varscan-mutect	CD1A,missense_variant,p.Arg279Trp,ENST00000289429,NM_001763.2;	T	ENST00000289429	Transcript	missense_variant	1368/2096	835/984	279/327	R/W	Cgg/Tgg	rs141426527,COSM1742953	1		1	CD1A	HGNC	HGNC:1634	protein_coding	YES	CCDS1174.1	ENSP00000289429	P06126		UPI0000161A54	NM_001763.2	deleterious(0.04)		4/6		Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF160,SMART_domains:SM00407,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs141426527	.												T	3	4	55	158257016	158257016	C	T	1	0	0	0	0	1	0	0	0	2677	875	31	1		1	CD1A	1	158257016	Missense_Mutation	SNP	C	C3N-00556_TP	1788085	158257016	90699406	36	17390											
F5	0	.	GRCh38	chr1	169546485	169546485	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttggggtcatcacgtttCacctcatcaggattttcaca	10	13	7	11	1	6	0	6	0	0	0	6	1	6	1	1	3	1	1	1	3	1	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1719G>T	p.=	p.V573V	ENST00000367797	11/25	424	397	27	415	414	1	strelka-varscan-mutect	F5,synonymous_variant,p.=,ENST00000367796,;F5,synonymous_variant,p.=,ENST00000367797,NM_000130.4;	A	ENST00000367797	Transcript	synonymous_variant	1921/7024	1719/6675	573/2224	V	gtG/gtT		1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4			11/25		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,Gene3D:2.60.40.420,PIRSF_domain:PIRSF000354,Superfamily_domains:SSF49503																	LOW	1	SNV	1			1										PASS		rs1199153980	.												A	2	1	55	169546485	169546485	C	A	1	0	0	0	0	0	0	0	1	5216	813	29	2		2	F5	1	169546485	Silent	SNP	C	C3N-00556_TP	11289469	169546485	79409937	37	17391											
RGSL1	0	.	GRCh38	chr1	182527628	182527628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcacttggagttcttcaggGagttcctcaaggaacggaag	11	9	13	8	1	3	0	2	0	1	0	4	4	4	4	1	4	2	3	1	4	3	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1981G>A	p.Glu661Lys	p.E661K	ENST00000294854	11/22	173	163	10	148	148	0	strelka-varscan	RGSL1,missense_variant,p.Glu661Lys,ENST00000294854,NM_001137669.1;RGSL1,non_coding_transcript_exon_variant,,ENST00000456971,;RGSL1,missense_variant,p.Glu696Lys,ENST00000443996,;RGSL1,3_prime_UTR_variant,,ENST00000415960,;RGSL1,non_coding_transcript_exon_variant,,ENST00000436031,;	A	ENST00000294854	Transcript	missense_variant	2001/3696	1981/3231	661/1076	E/K	Gag/Aag		1		1	RGSL1	HGNC	HGNC:18636	protein_coding	YES	CCDS58049.1	ENSP00000457748	A5PLK6		UPI000156571A	NM_001137669.1	deleterious(0.01)		11/22		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF173,Pfam_domain:PF00615,Superfamily_domains:SSF48097																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	182527628	182527628	G	A	1	0	0	0	0	1	0	0	0	13486	1175	41	3		3	RGSL1	1	182527628	Missense_Mutation	SNP	G	C3N-00556_TP	12981143	182527628	66428794	38	17392											
DHX9	0	.	GRCh38	chr1	182878122	182878122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggaaagggcgagctggccGagtacggcctggattctgct	8	7	16	10	4	1	0	0	0	1	0	1	4	1	2	2	5	3	3	2	5	2	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2300G>A	p.Arg767Gln	p.R767Q	ENST00000367549	20/28	245	211	34	213	213	0	strelka-varscan	DHX9,missense_variant,p.Arg767Gln,ENST00000367549,NM_001357.4;DHX9,non_coding_transcript_exon_variant,,ENST00000485081,;DHX9,non_coding_transcript_exon_variant,,ENST00000474446,;DHX9,upstream_gene_variant,,ENST00000473076,;DHX9,downstream_gene_variant,,ENST00000490519,;	A	ENST00000367549	Transcript	missense_variant	2410/4240	2300/3813	767/1270	R/Q	cGa/cAa		1		1	DHX9	HGNC	HGNC:2750	protein_coding	YES	CCDS41444.1	ENSP00000356520	Q08211		UPI00001AEF15	NM_001357.4	deleterious(0)		20/28		Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF119,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	182878122	182878122	G	A	1	0	0	0	0	1	0	0	0	4320	1058	37	1		1	DHX9	1	182878122	Missense_Mutation	SNP	G	C3N-00556_TP	350494	182878122	66078300	39	17393											
LAMC1	0	.	GRCh38	chr1	183126250	183126250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accactttgggtttggacctGaaggctgcaaacgtaagggg	10	9	14	8	1	0	1	0	1	0	0	0	2	0	2	2	5	2	4	2	5	3	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2932G>A	p.Glu978Lys	p.E978K	ENST00000258341	16/28	145	112	33	132	132	0	strelka-varscan	LAMC1,missense_variant,p.Glu978Lys,ENST00000258341,NM_002293.3;LAMC1,non_coding_transcript_exon_variant,,ENST00000466964,;LAMC1,upstream_gene_variant,,ENST00000478064,;	A	ENST00000258341	Transcript	missense_variant	3189/7889	2932/4830	978/1609	E/K	Gaa/Aaa		1		1	LAMC1	HGNC	HGNC:6492	protein_coding	YES	CCDS1351.1	ENSP00000258341	P11047		UPI000013CFC7	NM_002293.3	tolerated(0.56)		16/28		PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF270,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196,Prints_domain:PR00011																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	183126250	183126250	G	A	1	0	0	0	0	1	0	0	0	8518	1291	45	3		3	LAMC1	1	183126250	Missense_Mutation	SNP	G	C3N-00556_TP	248128	183126250	65830172	40	17394											
PRG4	0	.	GRCh38	chr1	186312363	186312363	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctgccagactggcttatCaagacaaaggtaacattttt	13	11	7	10	0	1	2	1	0	0	2	1	2	1	2	2	2	2	2	2	2	4	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.3982C>T	p.Gln1328Ter	p.Q1328*	ENST00000445192	11/13	74	68	6	114	114	0	strelka-varscan	PRG4,stop_gained,p.Gln1328Ter,ENST00000445192,NM_005807.4;PRG4,stop_gained,p.Gln1287Ter,ENST00000367483,NM_001127708.2;PRG4,stop_gained,p.Gln1285Ter,ENST00000635041,NM_001303232.1;PRG4,stop_gained,p.Gln1235Ter,ENST00000367485,NM_001127709.2,NM_001127710.2;TPR,3_prime_UTR_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000367482,;RNU6-1240P,upstream_gene_variant,,ENST00000365155,;	T	ENST00000445192	Transcript	stop_gained	4027/5044	3982/4215	1328/1404	Q/*	Caa/Taa		1		1	PRG4	HGNC	HGNC:9364	protein_coding	YES	CCDS1369.1	ENSP00000399679	Q92954		UPI0004620CBB	NM_005807.4			11/13		hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1																	HIGH		SNV	5			1										PASS		.	.												T	4	4	55	186312363	186312363	C	T	1	0	0	0	0	0	1	0	0	12615	827	29	3		3	PRG4	1	186312363	Nonsense_Mutation	SNP	C	C3N-00556_TP	3186113	186312363	62644059	41	17395											
TPR	0	.	GRCh38	chr1	186359978	186359978	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcaactgatcctgagtttCcacataagcattatagagct	14	11	7	9	0	0	3	0	2	0	1	2	3	2	3	2	0	4	4	2	0	5	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1210G>T	p.Glu404Ter	p.E404*	ENST00000367478	12/51	219	192	27	260	260	0	strelka-varscan	TPR,stop_gained,p.Glu404Ter,ENST00000367478,NM_003292.2;TPR,stop_gained,p.Glu404Ter,ENST00000613151,;TPR,non_coding_transcript_exon_variant,,ENST00000474852,;TPR,upstream_gene_variant,,ENST00000491783,;	A	ENST00000367478	Transcript	stop_gained	1507/9708	1210/7092	404/2363	E/*	Gaa/Taa		1		-1	TPR	HGNC	HGNC:12017	protein_coding	YES	CCDS41446.1	ENSP00000356448	P12270		UPI000046FCF4	NM_003292.2			12/51		hmmpanther:PTHR18898																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	55	186359978	186359978	C	A	1	0	0	0	0	0	1	0	0	16897	864	30	2		2	TPR	1	186359978	Nonsense_Mutation	SNP	C	C3N-00556_TP	47615	186359978	62596444	42	17396											
F13B	0	.	GRCh38	chr1	197067170	197067170	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaattttaccttctgcataGagttctcctgagattatcaa	11	17	5	8	0	3	2	1	1	2	2	4	3	3	2	2	0	2	2	2	0	5	7	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.54C>A	p.=	p.L18L	ENST00000367412	1/12	186	155	31	194	194	0	strelka-varscan	F13B,synonymous_variant,p.=,ENST00000367412,NM_001994.2;	T	ENST00000367412	Transcript	synonymous_variant	98/2217	54/1986	18/661	L	ctC/ctA		1		-1	F13B	HGNC	HGNC:3534	protein_coding	YES	CCDS1388.1	ENSP00000356382	P05160		UPI000013D8E0	NM_001994.2			1/12		Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	197067170	197067170	G	T	1	0	0	0	0	0	0	0	1	5209	929	33	2		2	F13B	1	197067170	Silent	SNP	G	C3N-00556_TP	10707192	197067170	51889252	43	17397											
ZNF281	0	.	GRCh38	chr1	200407946	200407946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatttcagcatttagagctGaggagtcaataagtgacaat	15	12	9	5	0	2	3	2	2	0	1	2	4	2	4	0	1	2	2	0	1	5	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1760C>T	p.Ser587Leu	p.S587L	ENST00000294740	2/2	223	207	16	249	249	0	strelka-varscan	ZNF281,missense_variant,p.Ser587Leu,ENST00000294740,NM_012482.4,NM_001281293.1;ZNF281,missense_variant,p.Ser587Leu,ENST00000367353,;ZNF281,missense_variant,p.Ser551Leu,ENST00000367352,NM_001281294.1;RP11-469A15.2,intron_variant,,ENST00000637430,;RP11-469A15.2,upstream_gene_variant,,ENST00000634596,;RP11-469A15.2,upstream_gene_variant,,ENST00000635220,;	A	ENST00000294740	Transcript	missense_variant	1885/4891	1760/2688	587/895	S/L	tCa/tTa		1		-1	ZNF281	HGNC	HGNC:13075	protein_coding	YES	CCDS1402.1	ENSP00000294740	Q9Y2X9		UPI000013C345	NM_012482.4,NM_001281293.1	deleterious(0.05)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	200407946	200407946	G	A	1	0	0	0	0	1	0	0	0	18394	1294	45	3		3	ZNF281	1	200407946	Missense_Mutation	SNP	G	C3N-00556_TP	3340776	200407946	48548476	44	17398											
ARL8A	0	.	GRCh38	chr1	202138433	202138433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacggtggggatcatgtcctCgttgaactgtcctgactgga	7	11	13	10	2	1	2	1	2	0	0	4	4	3	4	2	4	1	1	2	4	1	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.139G>A	p.Glu47Lys	p.E47K	ENST00000272217	2/7	213	181	32	214	214	0	strelka-varscan	ARL8A,missense_variant,p.Glu47Lys,ENST00000272217,NM_138795.3;ARL8A,missense_variant,p.Glu47Lys,ENST00000614750,NM_001256129.1;GPR37L1,downstream_gene_variant,,ENST00000367282,NM_004767.3;ARL8A,upstream_gene_variant,,ENST00000486225,;ARL8A,upstream_gene_variant,,ENST00000491358,;	T	ENST00000272217	Transcript	missense_variant	308/1793	139/561	47/186	E/K	Gag/Aag		1		-1	ARL8A	HGNC	HGNC:25192	protein_coding	YES	CCDS1421.1	ENSP00000272217	Q96BM9	A0A024R977	UPI00000372D3	NM_138795.3	deleterious(0.02)		2/7		Gene3D:3.40.50.300,Pfam_domain:PF00025,PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF122,SMART_domains:SM00175,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	202138433	202138433	C	T	1	0	0	0	0	1	0	0	0	1086	893	31	1		1	ARL8A	1	202138433	Missense_Mutation	SNP	C	C3N-00556_TP	1730487	202138433	46817989	45	17399											
LAX1	0	.	GRCh38	chr1	203774385	203774385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaaaatgttccagcagcaGatcccagtggaagccagcag	14	6	11	10	0	0	2	0	1	0	1	2	3	2	3	3	1	4	4	3	1	3	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.901G>A	p.Asp301Asn	p.D301N	ENST00000442561	5/5	268	253	15	337	336	1	strelka-varscan-mutect	LAX1,missense_variant,p.Asp301Asn,ENST00000442561,NM_017773.3;LAX1,missense_variant,p.Asp285Asn,ENST00000367217,NM_001136190.1;LAX1,non_coding_transcript_exon_variant,,ENST00000367215,;	A	ENST00000442561	Transcript	missense_variant	1291/3023	901/1197	301/398	D/N	Gat/Aat		1		1	LAX1	HGNC	HGNC:26005	protein_coding	YES	CCDS1441.2	ENSP00000406970	Q8IWV1		UPI000007446D	NM_017773.3	tolerated(0.13)		5/5		PD319679,Pfam_domain:PF15681,hmmpanther:PTHR24091																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	203774385	203774385	G	A	1	0	0	0	0	1	0	0	0	8553	942	33	3		3	LAX1	1	203774385	Missense_Mutation	SNP	G	C3N-00556_TP	1635952	203774385	45182037	46	17400											
DIEXF	0	.	GRCh38	chr1	209830822	209830822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcagagagttcagattcttCagattctgaaagcgactcag	12	11	10	8	1	6	4	4	1	2	3	6	6	6	4	0	0	1	1	0	0	1	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.167C>T	p.Ser56Leu	p.S56L	ENST00000491415	3/12	142	127	15	188	188	0	strelka-varscan-mutect	DIEXF,missense_variant,p.Ser56Leu,ENST00000491415,NM_014388.6;	T	ENST00000491415	Transcript	missense_variant	224/8446	167/2271	56/756	S/L	tCa/tTa		1		1	DIEXF	HGNC	HGNC:28440	protein_coding	YES	CCDS1493.1	ENSP00000419005	Q68CQ4		UPI000006D987	NM_014388.6	tolerated(0.05)		3/12		hmmpanther:PTHR12933,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	209830822	209830822	C	T	1	0	0	0	0	1	0	0	0	4327	838	29	3		3	DIEXF	1	209830822	Missense_Mutation	SNP	C	C3N-00556_TP	6056437	209830822	39125600	47	17401											
DNAH14	0	.	GRCh38	chr1	225240708	225240708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctttaaaccgtgaagatGaacacagagaaaatatacca	19	7	8	7	1	0	4	0	2	0	2	0	6	0	4	2	0	4	1	2	0	8	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.6568G>A	p.Glu2190Lys	p.E2190K	ENST00000430092	42/84	262	245	17	365	365	0	strelka-varscan-mutect	DNAH14,missense_variant,p.Glu2190Lys,ENST00000430092,NM_001373.1;DNAH14,missense_variant,p.Glu2190Lys,ENST00000439375,;DNAH14,missense_variant,p.Glu1785Lys,ENST00000445597,;DNAH14,upstream_gene_variant,,ENST00000327794,;	A	ENST00000430092	Transcript	missense_variant	6783/13763	6568/13548	2190/4515	E/K	Gaa/Aaa		1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000414402	Q0VDD8		UPI000192C36D	NM_001373.1	deleterious(0.01)		42/84		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF254																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	55	225240708	225240708	G	A	1	0	0	0	0	1	0	0	0	4415	1291	45	3		3	DNAH14	1	225240708	Missense_Mutation	SNP	G	C3N-00556_TP	15409886	225240708	23715714	48	17402											
H3F3A	0	.	GRCh38	chr1	226064408	226064408	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtaaagcacccaggaaGcaactggctacaaaagccgc	14	4	12	11	1	0	0	0	0	0	0	0	1	0	1	2	4	5	4	2	4	7	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.57G>A	p.=	p.K19K	ENST00000366813	1/3	163	130	33	183	183	0	strelka-varscan-mutect	H3F3A,synonymous_variant,p.=,ENST00000366814,;H3F3A,synonymous_variant,p.=,ENST00000366813,;H3F3A,synonymous_variant,p.=,ENST00000366815,NM_002107.4;H3F3A,synonymous_variant,p.=,ENST00000366816,;RP11-396C23.4,upstream_gene_variant,,ENST00000609423,;	A	ENST00000366813	Transcript	synonymous_variant	432/1308	57/411	19/136	K	aaG/aaA		1		1	H3F3A	HGNC	HGNC:4764	protein_coding	YES	CCDS1550.1	ENSP00000355778	P84243	B2R4P9	UPI00000007B0				1/3		hmmpanther:PTHR11426,PROSITE_patterns:PS00322,Pfam_domain:PF00125,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00622																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	226064408	226064408	G	A	1	0	0	0	0	0	0	0	1	6815	962	34	3		3	H3F3A	1	226064408	Silent	SNP	G	C3N-00556_TP	823700	226064408	22892014	49	17403											
NID1	0	.	GRCh38	chr1	236011935	236011935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttacctccgggcacgcaaCggaagccgtctccctgataa	9	7	9	16	4	1	1	0	1	1	0	3	2	2	2	5	2	3	2	5	2	4	2	rs760250427		C3N-00556_TP	C3N-00556_NB	C	C																c.2513G>A	p.Arg838His	p.R838H	ENST00000264187	12/20	112	100	12	119	119	0	strelka-varscan	NID1,missense_variant,p.Arg838His,ENST00000264187,NM_002508.2;NID1,intron_variant,,ENST00000366595,;	T	ENST00000264187	Transcript	missense_variant	2596/5864	2513/3744	838/1247	R/H	cGt/cAt	rs760250427,COSM4706876	1		-1	NID1	HGNC	HGNC:7821	protein_coding	YES	CCDS1608.1	ENSP00000264187	P14543		UPI000013D4D9	NM_002508.2	tolerated(0.2)		12/20		Gene3D:2.40.155.10,Pfam_domain:PF12947,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF107,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184,Superfamily_domains:SSF57610											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	55	236011935	236011935	C	T	1	0	0	0	0	1	0	0	0	10447	536	19	1		1	NID1	1	236011935	Missense_Mutation	SNP	C	C3N-00556_TP	9947527	236011935	12944487	50	17404											
RYR2	0	.	GRCh38	chr1	237496557	237496557	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtgaaggttctgctcagTataagaaatggtactatgaa	14	12	10	5	0	3	3	2	2	1	1	3	3	3	3	0	2	2	4	0	2	7	5			C3N-00556_TP	C3N-00556_NB	T	T																c.2008T>G	p.Tyr670Asp	p.Y670D	ENST00000366574	20/105	162	148	14	257	256	1	strelka-varscan	RYR2,missense_variant,p.Tyr670Asp,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Tyr654Asp,ENST00000360064,;	G	ENST00000366574	Transcript	missense_variant	2325/16562	2008/14904	670/4967	Y/D	Tat/Gat	COSM4627068,COSM4627069	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		20/105		PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,SMART_domains:SM00449											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	55	237496557	237496557	T	G	1	0	0	0	0	1	0	0	0	14029	1638	57	5		5	RYR2	1	237496557	Missense_Mutation	SNP	T	C3N-00556_TP	1484622	237496557	11459865	51	17405											
FH	0	.	GRCh38	chr1	241504212	241504212	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatgagcagccagagctTcaaatttattcggagcagtg	11	10	11	9	2	2	2	2	1	0	1	3	3	2	3	1	1	4	3	1	1	2	4	novel		C3N-00556_TP	C3N-00556_NB	T	T																c.938A>T	p.Glu313Val	p.E313V	ENST00000366560	7/10	291	254	37	402	401	1	strelka-varscan	FH,missense_variant,p.Glu313Val,ENST00000366560,NM_000143.3;	A	ENST00000366560	Transcript	missense_variant	977/1797	938/1533	313/510	E/V	gAa/gTa		1		-1	FH	HGNC	HGNC:3700	protein_coding	YES	CCDS1617.1	ENSP00000355518	P07954	A0A0S2Z4C3	UPI000012AD6A	NM_000143.3	deleterious(0)		7/10		HAMAP:MF_00743,hmmpanther:PTHR11444:SF1,hmmpanther:PTHR11444,TIGRFAM_domain:TIGR00979,Gene3D:1.20.200.10,Pfam_domain:PF00206,Superfamily_domains:SSF48557																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	241504212	241504212	T	A	1	0	0	0	0	1	0	0	0	5739	1783	62	4		4	FH	1	241504212	Missense_Mutation	SNP	T	C3N-00556_TP	4007655	241504212	7452210	52	17406											
ZNF692	0	.	GRCh38	chr1	248850332	248850332	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggggaccactgggtgactCttgaggggctagaagcaggg	9	7	18	7	0	1	3	0	2	1	1	1	4	1	4	1	6	1	2	1	6	3	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1453G>C	p.Glu485Gln	p.E485Q	ENST00000451251	12/12	114	105	9	114	114	0	strelka-varscan	ZNF692,missense_variant,p.Glu485Gln,ENST00000451251,NM_001136036.2;ZNF692,missense_variant,p.Glu480Gln,ENST00000306601,NM_017865.3;ZNF692,missense_variant,p.Glu435Gln,ENST00000366471,NM_001193328.1;ZNF692,missense_variant,p.Glu234Gln,ENST00000476503,;ZNF672,downstream_gene_variant,,ENST00000306562,NM_024836.2;ZNF672,downstream_gene_variant,,ENST00000428515,;ZNF672,downstream_gene_variant,,ENST00000423362,;ZNF672,downstream_gene_variant,,ENST00000505503,;ZNF672,downstream_gene_variant,,ENST00000502697,;ZNF672,downstream_gene_variant,,ENST00000510904,;ZNF672,downstream_gene_variant,,ENST00000515369,;ZNF692,3_prime_UTR_variant,,ENST00000463519,;ZNF692,3_prime_UTR_variant,,ENST00000412341,;ZNF692,3_prime_UTR_variant,,ENST00000477070,;ZNF692,3_prime_UTR_variant,,ENST00000482023,;ZNF692,non_coding_transcript_exon_variant,,ENST00000533927,;ZNF692,non_coding_transcript_exon_variant,,ENST00000470787,;ZNF692,downstream_gene_variant,,ENST00000474351,;ZNF692,downstream_gene_variant,,ENST00000462037,;	G	ENST00000451251	Transcript	missense_variant	1799/2065	1453/1575	485/524	E/Q	Gag/Cag		1		-1	ZNF692	HGNC	HGNC:26049	protein_coding	YES	CCDS44348.1	ENSP00000391200	Q9BU19		UPI00017A804A	NM_001136036.2	tolerated(0.29)		12/12																			MODERATE		SNV	2			1										PASS		.	.												G	3	3	55	248850332	248850332	C	G	1	0	0	0	0	1	0	0	0	18670	922	32	4		4	ZNF692	1	248850332	Missense_Mutation	SNP	C	C3N-00556_TP	7346120	248850332	106090	53	17407											
GREB1	0	.	GRCh38	chr2	11576446	11576446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgaaactgaccactcaacCcaagaagcagaaacacttga	17	6	6	12	0	2	5	1	3	1	2	2	5	2	5	2	0	4	1	2	0	5	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.548C>A	p.Pro183His	p.P183H	ENST00000381486	5/33	218	183	35	251	251	0	strelka-varscan-mutect	GREB1,missense_variant,p.Pro183His,ENST00000381486,NM_014668.3;GREB1,missense_variant,p.Pro183His,ENST00000234142,;GREB1,missense_variant,p.Pro183His,ENST00000263834,NM_148903.2;GREB1,missense_variant,p.Pro183His,ENST00000381483,NM_033090.2;GREB1,missense_variant,p.Pro73His,ENST00000389825,;	A	ENST00000381486	Transcript	missense_variant	848/8484	548/5850	183/1949	P/H	cCc/cAc		1		1	GREB1	HGNC	HGNC:24885	protein_coding	YES	CCDS42655.1	ENSP00000370896	Q4ZG55		UPI0000163937	NM_014668.3	deleterious(0)		5/33		Pfam_domain:PF15782,hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	55	11576446	11576446	C	A	1	0	0	0	0	1	0	0	0	6639	623	22	2		2	GREB1	2	11576446	Missense_Mutation	SNP	C	C3N-00556_TP		11576446	230617083	54	17408											
SMC6	0	.	GRCh38	chr2	17715045	17715045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccaaagcaagttctgggtCccgaagatgaatgcaagctc	13	7	11	10	1	1	2	0	1	1	1	3	3	2	2	2	1	4	4	2	1	5	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1546G>T	p.Asp516Tyr	p.D516Y	ENST00000448223	16/28	261	234	27	262	262	0	strelka-varscan-mutect	SMC6,missense_variant,p.Asp516Tyr,ENST00000448223,NM_001142286.1;SMC6,missense_variant,p.Asp516Tyr,ENST00000351948,NM_024624.5;SMC6,missense_variant,p.Asp516Tyr,ENST00000402989,;SMC6,missense_variant,p.Asp542Tyr,ENST00000446852,;SMC6,downstream_gene_variant,,ENST00000381272,;SMC6,upstream_gene_variant,,ENST00000430591,;	A	ENST00000448223	Transcript	missense_variant	1816/5233	1546/3276	516/1091	D/Y	Gac/Tac		1		-1	SMC6	HGNC	HGNC:20466	protein_coding	YES	CCDS1690.1	ENSP00000404092	Q96SB8		UPI0000073C3B	NM_001142286.1	tolerated(0.08)		16/28		hmmpanther:PTHR19306,hmmpanther:PTHR19306:SF5,Pfam_domain:PF02463																	MODERATE	1	SNV	1			1										PASS		rs1244163133	.												A	3	1	55	17715045	17715045	C	A	1	0	0	0	0	1	0	0	0	15080	855	30	2		2	SMC6	2	17715045	Missense_Mutation	SNP	C	C3N-00556_TP	6138599	17715045	224478484	55	17409											
APOB	0	.	GRCh38	chr2	21007072	21007072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagccgaatgccgacatctCtatggtgaatggagacactt	12	10	10	9	2	1	2	0	1	1	1	2	5	1	2	2	2	2	0	2	2	4	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.9796G>A	p.Glu3266Lys	p.E3266K	ENST00000233242	26/29	327	309	18	397	396	1	strelka-varscan	APOB,missense_variant,p.Glu3266Lys,ENST00000233242,NM_000384.2;	T	ENST00000233242	Transcript	missense_variant	9924/14121	9796/13692	3266/4563	E/K	Gag/Aag		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	tolerated(0.07)		26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	21007072	21007072	C	T	1	0	0	0	0	1	0	0	0	907	922	32	3		3	APOB	2	21007072	Missense_Mutation	SNP	C	C3N-00556_TP	3292027	21007072	221186457	56	17410											
TDRD15	0	.	GRCh38	chr2	21141650	21141650	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctaaaatttacgaacttCagagggaatttttaactgtt	14	15	6	6	1	2	1	1	0	1	1	2	3	2	2	0	1	3	1	0	1	6	8	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.4183C>T	p.Gln1395Ter	p.Q1395*	ENST00000405799	4/4	144	130	14	192	192	0	strelka-varscan-mutect	TDRD15,stop_gained,p.Gln1395Ter,ENST00000405799,;TDRD15,stop_gained,p.Gln1395Ter,ENST00000622654,;	T	ENST00000405799	Transcript	stop_gained	4513/6135	4183/5805	1395/1934	Q/*	Cag/Tag		1		1	TDRD15	HGNC	HGNC:45037	protein_coding	YES	CCDS77385.1	ENSP00000384376	B5MCY1		UPI000173A3F5				4/4		Gene3D:2.30.30.140,Pfam_domain:PF00567,PROSITE_profiles:PS50304,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7,SMART_domains:SM00333,Superfamily_domains:SSF63748																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	55	21141650	21141650	C	T	1	0	0	0	0	0	1	0	0	16141	827	29	3		3	TDRD15	2	21141650	Nonsense_Mutation	SNP	C	C3N-00556_TP	134578	21141650	221051879	57	17411											
GAREM2	0	.	GRCh38	chr2	26184711	26184711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggtgcgggagggtcattGctacaagctggttagcatca	8	9	14	10	2	2	0	2	0	0	0	2	1	2	1	1	4	5	4	1	4	3	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.863G>C	p.Cys288Ser	p.C288S	ENST00000401533	4/6	148	138	10	137	137	0	strelka-varscan-mutect	GAREM2,missense_variant,p.Cys211Ser,ENST00000407684,NM_001191033.1;GAREM2,missense_variant,p.Cys288Ser,ENST00000401533,NM_001168241.1;GAREM2,upstream_gene_variant,,ENST00000496070,;	C	ENST00000401533	Transcript	missense_variant	993/4161	863/2625	288/874	C/S	tGc/tCc		1		1	GAREM2	HGNC	HGNC:27172	protein_coding	YES	CCDS54336.1	ENSP00000384593	Q75VX8		UPI0000237273	NM_001168241.1	tolerated(0.45)		4/6		Pfam_domain:PF12736,hmmpanther:PTHR14454,hmmpanther:PTHR14454:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	26184711	26184711	G	C	1	0	0	0	0	1	0	0	0	6110	1319	46	4		4	GAREM2	2	26184711	Missense_Mutation	SNP	G	C3N-00556_TP	5043061	26184711	216008818	58	17412											
CGREF1	0	.	GRCh38	chr2	27101750	27101750	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaacagcttgtggctcctGaggagatggagcaaggggct	9	8	15	9	0	0	2	0	1	0	1	2	4	2	3	2	5	3	4	2	5	2	1	rs754790317		C3N-00556_TP	C3N-00556_NB	G	G																c.481C>G	p.Gln161Glu	p.Q161E	ENST00000402394	6/6	454	368	86	473	473	0	strelka-varscan-mutect	CGREF1,missense_variant,p.Gln161Glu,ENST00000402394,NM_006569.5;CGREF1,missense_variant,p.Gln161Glu,ENST00000312734,;CGREF1,missense_variant,p.Gln283Glu,ENST00000404694,;CGREF1,missense_variant,p.Gln161Glu,ENST00000405600,NM_001166239.1;CGREF1,missense_variant,p.Gln161Glu,ENST00000260595,;CGREF1,intron_variant,,ENST00000402550,NM_001166240.1;KHK,downstream_gene_variant,,ENST00000260599,NM_000221.2;KHK,downstream_gene_variant,,ENST00000260598,NM_006488.2;KHK,downstream_gene_variant,,ENST00000429697,;KHK,downstream_gene_variant,,ENST00000490823,;CGREF1,intron_variant,,ENST00000440612,;KHK,downstream_gene_variant,,ENST00000464371,;KHK,downstream_gene_variant,,ENST00000469936,;CGREF1,downstream_gene_variant,,ENST00000467539,;	C	ENST00000402394	Transcript	missense_variant	750/1906	481/957	161/318	Q/E	Cag/Gag	rs754790317	1		-1	CGREF1	HGNC	HGNC:16962	protein_coding	YES	CCDS33162.2	ENSP00000385452	Q99674		UPI000013D0EB	NM_006569.5	tolerated(0.35)		6/6		hmmpanther:PTHR23104,hmmpanther:PTHR23104:SF11																	MODERATE		SNV	2			1										PASS		rs754790317	.												C	3	2	55	27101750	27101750	G	C	1	0	0	0	0	1	0	0	0	3063	1299	45	4		4	CGREF1	2	27101750	Missense_Mutation	SNP	G	C3N-00556_TP	917039	27101750	215091779	59	17413											
ATRAID	0	.	GRCh38	chr2	27212349	27212349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccgggtcgcgcgagcagcgGagcaccaagggaacggaaaa	12	1	17	11	6	0	0	0	0	0	0	1	4	0	3	2	4	4	2	2	4	4	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.146G>A	p.Gly49Glu	p.G49E	ENST00000611786	1/7	346	317	29	342	342	0	strelka-varscan-mutect	ATRAID,missense_variant,p.Gly49Glu,ENST00000611786,NM_080592.3;ATRAID,missense_variant,p.Gly49Glu,ENST00000380171,;ATRAID,5_prime_UTR_variant,,ENST00000606999,NM_001170795.1;SLC5A6,intron_variant,,ENST00000432106,;SLC5A6,intron_variant,,ENST00000430186,;SLC5A6,intron_variant,,ENST00000428518,;SLC5A6,intron_variant,,ENST00000442731,;SLC5A6,upstream_gene_variant,,ENST00000310574,NM_021095.2;SLC5A6,upstream_gene_variant,,ENST00000408041,;ATRAID,upstream_gene_variant,,ENST00000405489,NM_016085.4;SLC5A6,upstream_gene_variant,,ENST00000412471,;SLC5A6,upstream_gene_variant,,ENST00000414408,;SLC5A6,upstream_gene_variant,,ENST00000401463,;SLC5A6,upstream_gene_variant,,ENST00000426119,;ATRAID,upstream_gene_variant,,ENST00000419744,;ATRAID,non_coding_transcript_exon_variant,,ENST00000484646,;SLC5A6,upstream_gene_variant,,ENST00000488743,;SLC5A6,upstream_gene_variant,,ENST00000445802,;ATRAID,upstream_gene_variant,,ENST00000472515,;ATRAID,upstream_gene_variant,,ENST00000491220,;	A	ENST00000611786	Transcript	missense_variant	319/1256	146/855	49/284	G/E	gGa/gAa		1		1	ATRAID	HGNC	HGNC:24090	protein_coding	YES	CCDS1741.1	ENSP00000484228	Q6UW56		UPI0000456D96	NM_080592.3	tolerated_low_confidence(0.2)		1/7		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	27212349	27212349	G	A	1	0	0	0	0	1	0	0	0	1357	1174	41	3		3	ATRAID	2	27212349	Missense_Mutation	SNP	G	C3N-00556_TP	110599	27212349	214981180	60	17414											
GTF3C2	0	.	GRCh38	chr2	27343120	27343120	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttgaggccctaggctttGagacctttgacatctctgaa	8	13	10	10	0	1	4	0	4	1	1	2	5	1	4	2	2	0	2	2	2	2	4	rs774560559		C3N-00556_TP	C3N-00556_NB	G	G																c.275C>G	p.Ser92Ter	p.S92*	ENST00000359541	3/19	64	59	5	111	111	0	strelka-mutect	GTF3C2,stop_gained,p.Ser92Ter,ENST00000359541,NM_001318909.1;GTF3C2,stop_gained,p.Ser92Ter,ENST00000264720,NM_001521.3,NM_001035521.2;GTF3C2,stop_gained,p.Ser92Ter,ENST00000622534,;GTF3C2,stop_gained,p.Ser92Ter,ENST00000457748,;GTF3C2,downstream_gene_variant,,ENST00000423998,;GTF3C2-AS1,downstream_gene_variant,,ENST00000625728,;GTF3C2-AS1,downstream_gene_variant,,ENST00000626256,;GTF3C2-AS1,downstream_gene_variant,,ENST00000590383,;GTF3C2-AS1,downstream_gene_variant,,ENST00000588707,;GTF3C2-AS1,downstream_gene_variant,,ENST00000589853,;GTF3C2-AS1,downstream_gene_variant,,ENST00000587586,;GTF3C2-AS1,downstream_gene_variant,,ENST00000589232,;GTF3C2,upstream_gene_variant,,ENST00000480989,;	C	ENST00000359541	Transcript	stop_gained	705/3992	275/2736	92/911	S/*	tCa/tGa	rs774560559	1		-1	GTF3C2	HGNC	HGNC:4665	protein_coding	YES	CCDS1749.1	ENSP00000352536	Q8WUA4		UPI0000074025	NM_001318909.1			3/19		hmmpanther:PTHR15052,hmmpanther:PTHR15052:SF2																	HIGH	1	SNV	1			1										PASS		rs774560559	.												C	4	2	55	27343120	27343120	G	C	1	0	0	0	0	0	1	0	0	6754	1294	45	4		4	GTF3C2	2	27343120	Nonsense_Mutation	SNP	G	C3N-00556_TP	130771	27343120	214850409	61	17415											
PLB1	0	.	GRCh38	chr2	28538338	28538338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaatgggcttgcggcgggcgGcgtggatgagctgatggggg	5	7	23	6	4	0	2	0	2	0	0	0	4	0	3	0	7	2	2	0	7	1	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.575G>T	p.Gly192Val	p.G192V	ENST00000327757	10/58	232	202	30	205	205	0	strelka-varscan	PLB1,missense_variant,p.Gly203Val,ENST00000422425,NM_001170585.1;PLB1,missense_variant,p.Gly192Val,ENST00000327757,NM_153021.4;PLB1,missense_variant,p.Gly202Val,ENST00000404858,;PLB1,missense_variant,p.Gly147Val,ENST00000416713,;	T	ENST00000327757	Transcript	missense_variant	619/5107	575/4377	192/1458	G/V	gGc/gTc		1		1	PLB1	HGNC	HGNC:30041	protein_coding	YES	CCDS33168.1	ENSP00000330442	Q6P1J6		UPI0000D6117C	NM_153021.4	tolerated(0.5)		10/58		hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF31																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	28538338	28538338	G	T	1	0	0	0	0	1	0	0	0	12118	1203	42	2		2	PLB1	2	28538338	Missense_Mutation	SNP	G	C3N-00556_TP	1195218	28538338	213655191	62	17416											
ALK	0	.	GRCh38	chr2	29226943	29226943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgcaggagacgccatcctCagccagcaccgtcccgtggt	9	6	11	15	3	1	1	1	0	0	1	3	2	3	1	5	2	3	2	5	2	1	0	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.3046G>A	p.Glu1016Lys	p.E1016K	ENST00000389048	18/29	414	340	74	373	373	0	strelka-varscan	ALK,missense_variant,p.Glu1016Lys,ENST00000389048,NM_004304.4;ALK,missense_variant,p.Glu639Lys,ENST00000618119,;ALK,upstream_gene_variant,,ENST00000431873,;ALK,upstream_gene_variant,,ENST00000453137,;	T	ENST00000389048	Transcript	missense_variant	3953/6220	3046/4863	1016/1620	E/K	Gag/Aag		1		-1	ALK	HGNC	HGNC:427	protein_coding	YES	CCDS33172.1	ENSP00000373700	Q9UM73		UPI00001684DA	NM_004304.4	tolerated(0.53)		18/29		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF276																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	29226943	29226943	C	T	1	0	0	0	0	1	0	0	0	625	835	29	3		3	ALK	2	29226943	Missense_Mutation	SNP	C	C3N-00556_TP	688605	29226943	212966586	63	17417											
XDH	0	.	GRCh38	chr2	31381691	31381691	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacggggttgaggtcggaGatggggctggcagtgatgat	9	8	19	5	2	0	4	0	3	0	1	1	5	0	4	0	7	1	3	0	7	1	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1074C>A	p.=	p.I358I	ENST00000379416	12/36	469	418	51	431	431	0	strelka-varscan	XDH,synonymous_variant,p.=,ENST00000379416,NM_000379.3;XDH,downstream_gene_variant,,ENST00000491727,;XDH,downstream_gene_variant,,ENST00000476043,;	T	ENST00000379416	Transcript	synonymous_variant	1123/5688	1074/4002	358/1333	I	atC/atA		1		-1	XDH	HGNC	HGNC:12805	protein_coding	YES	CCDS1775.1	ENSP00000368727	P47989		UPI0000036BC9	NM_000379.3			12/36		PROSITE_profiles:PS51387,hmmpanther:PTHR11908,hmmpanther:PTHR11908:SF78,Gene3D:3.30.465.10,TIGRFAM_domain:TIGR02963,Pfam_domain:PF00941,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF56176																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	31381691	31381691	G	T	1	0	0	0	0	0	0	0	1	17985	932	33	2		2	XDH	2	31381691	Silent	SNP	G	C3N-00556_TP	2154748	31381691	210811838	64	17418											
GTF2A1L	0	.	GRCh38	chr2	48671612	48671612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctttaaattctggagatGatgttagtgaacaggatgtg	12	13	11	5	0	1	3	0	2	1	1	1	5	1	4	1	2	1	1	1	2	4	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.3373G>A	p.Asp1125Asn	p.D1125N	ENST00000394754	10/11	130	113	17	108	108	0	strelka-varscan	STON1-GTF2A1L,missense_variant,p.Asp1125Asn,ENST00000394754,NM_172311.2;STON1-GTF2A1L,missense_variant,p.Asp1125Asn,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Asp1125Asn,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,missense_variant,p.Asp1078Asn,ENST00000394751,NM_001198594.1;GTF2A1L,missense_variant,p.Asp421Asn,ENST00000403751,NM_006872.4;GTF2A1L,missense_variant,p.Asp387Asn,ENST00000430487,NM_001193487.2;GTF2A1L,missense_variant,p.Asp70Asn,ENST00000508440,;RP11-310N16.1,intron_variant,,ENST00000602369,;	A	ENST00000394754	Transcript	missense_variant	3487/3824	3373/3549	1125/1182	D/N	Gat/Aat		1		1	STON1-GTF2A1L	HGNC	HGNC:30651	protein_coding	YES	CCDS1840.1	ENSP00000378236		Q53S48	UPI000013C976	NM_172311.2	deleterious(0)		10/11		hmmpanther:PTHR12694,hmmpanther:PTHR12694:SF9,Pfam_domain:PF03153,Gene3D:2.30.18.10,SMART_domains:SM01371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	48671612	48671612	G	A	1	0	0	0	0	1	0	0	0	6735	1290	45	3		3	GTF2A1L	2	48671612	Missense_Mutation	SNP	G	C3N-00556_TP	17289921	48671612	193521917	65	17419											
NRXN1	0	.	GRCh38	chr2	50623516	50623516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctctgaagggttttaaatGacagagttatttcatcactg	11	15	8	7	0	3	3	2	2	1	1	4	3	4	3	1	1	0	2	1	1	4	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1031C>T	p.Ser344Leu	p.S344L	ENST00000404971	7/24	274	258	16	322	321	1	strelka-varscan	NRXN1,missense_variant,p.Ser311Leu,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Ser311Leu,ENST00000625672,;NRXN1,missense_variant,p.Ser344Leu,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Ser311Leu,ENST00000401669,;NRXN1,missense_variant,p.Ser307Leu,ENST00000405472,;NRXN1,missense_variant,p.Ser311Leu,ENST00000630543,;NRXN1,missense_variant,p.Ser291Leu,ENST00000628515,;NRXN1,missense_variant,p.Ser34Leu,ENST00000406859,;NRXN1,missense_variant,p.Ser34Leu,ENST00000402717,;NRXN1,missense_variant,p.Ser46Leu,ENST00000625891,;NRXN1,upstream_gene_variant,,ENST00000495871,;RP11-358H12.1,intron_variant,,ENST00000634985,;NRXN1,non_coding_transcript_exon_variant,,ENST00000628761,;NRXN1,non_coding_transcript_exon_variant,,ENST00000630431,;NRXN1,upstream_gene_variant,,ENST00000636298,;NRXN1,upstream_gene_variant,,ENST00000637605,;NRXN1,missense_variant,p.Ser46Leu,ENST00000331040,;NRXN1,3_prime_UTR_variant,,ENST00000626249,;	A	ENST00000404971	Transcript	missense_variant	2371/7578	1031/4644	344/1547	S/L	tCa/tTa		1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	tolerated(0.07)		7/24		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	50623516	50623516	G	A	1	0	0	0	0	1	0	0	0	10724	1294	45	3		3	NRXN1	2	50623516	Missense_Mutation	SNP	G	C3N-00556_TP	1951904	50623516	191570013	66	17420											
SPTBN1	0	.	GRCh38	chr2	54664655	54664655	+	Frame_Shift_Del	DEL	A	A	-																															aggcttcctcaatcggaaacAcgagtgggaggcccacaata																								novel		C3N-00556_TP	C3N-00556_NB	A	A																c.6623delA	p.His2208ProfsTer22	p.H2208Pfs*22	ENST00000356805	33/36	136	115	21	150	150	0	sindel-varindel-pindel	SPTBN1,frameshift_variant,p.His2210ProfsTer22,ENST00000615901,;SPTBN1,frameshift_variant,p.His2208ProfsTer22,ENST00000356805,NM_003128.2;SPTBN1,downstream_gene_variant,,ENST00000333896,NM_178313.2;AC093110.3,non_coding_transcript_exon_variant,,ENST00000626206,;AC093110.3,upstream_gene_variant,,ENST00000456363,;SPTBN1,non_coding_transcript_exon_variant,,ENST00000467371,;SPTBN1,downstream_gene_variant,,ENST00000496323,;	-	ENST00000356805	Transcript	frameshift_variant	6904/8482	6623/7095	2208/2364	H/X	cAc/cc		1		1	SPTBN1	HGNC	HGNC:11275	protein_coding	YES	CCDS33198.1	ENSP00000349259	Q01082	B2ZZ89	UPI0000DBEE4B	NM_003128.2			33/36		PROSITE_profiles:PS50003,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF325,PIRSF_domain:PIRSF002297,Gene3D:2.30.29.30,Pfam_domain:PF15410,SMART_domains:SM00233,Superfamily_domains:SSF50729,Prints_domain:PR00683																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	55	54664655	54664655	A	-	1	0	1	0	1	0	0	0	0	15475	159	6	0		0	SPTBN1	2	54664655	Frame_Shift_Del	DEL	A	C3N-00556_TP	4041139	54664655	187528874	67	17421											
USP34	0	.	GRCh38	chr2	61236194	61236194	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacacagctttaggatcTggtaatgtactgggaataca	14	10	11	6	0	1	0	0	0	1	0	1	3	1	3	0	4	3	3	0	4	6	5	novel		C3N-00556_TP	C3N-00556_NB	T	T																c.6885A>G	p.=	p.P2295P	ENST00000398571	55/80	180	129	51	208	208	0	strelka-varscan	USP34,synonymous_variant,p.=,ENST00000398571,NM_014709.3;USP34,synonymous_variant,p.=,ENST00000411912,;USP34,synonymous_variant,p.=,ENST00000453734,;USP34,intron_variant,,ENST00000472706,;USP34,non_coding_transcript_exon_variant,,ENST00000463046,;	C	ENST00000398571	Transcript	synonymous_variant	6962/11357	6885/10641	2295/3546	P	ccA/ccG		1		-1	USP34	HGNC	HGNC:20066	protein_coding	YES	CCDS42686.1	ENSP00000381577	Q70CQ2		UPI0000410E09	NM_014709.3			55/80																			LOW	1	SNV	2			1										PASS		.	.												C	2	2	55	61236194	61236194	T	C	1	0	0	0	0	0	0	0	1	17607	1567	55	5		5	USP34	2	61236194	Silent	SNP	T	C3N-00556_TP	6571539	61236194	180957335	68	17422											
LGALSL	0	.	GRCh38	chr2	64454570	64454570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggatcagtggccgacagcGatgccgtggtggtgagtgtg	6	8	19	8	4	1	1	1	1	0	0	1	4	1	2	2	4	2	0	2	4	0	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.25G>A	p.Asp9Asn	p.D9N	ENST00000238875	1/5	68	59	9	41	41	0	strelka-varscan	LGALSL,missense_variant,p.Asp9Asn,ENST00000238875,NM_014181.2;LGALSL,missense_variant,p.Asp9Asn,ENST00000409537,;LGALSL,missense_variant,p.Asp9Asn,ENST00000464281,;AC008074.3,upstream_gene_variant,,ENST00000441630,;LGALSL,missense_variant,p.Asp9Asn,ENST00000420552,;LGALSL,missense_variant,p.Asp9Asn,ENST00000462737,;AC008074.5,downstream_gene_variant,,ENST00000425381,;	A	ENST00000238875	Transcript	missense_variant	479/3926	25/519	9/172	D/N	Gat/Aat		1		1	LGALSL	HGNC	HGNC:25012	protein_coding	YES	CCDS1877.1	ENSP00000238875	Q3ZCW2		UPI000013CA5E	NM_014181.2	tolerated_low_confidence(0.06)		1/5		hmmpanther:PTHR11346:SF98,hmmpanther:PTHR11346																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	64454570	64454570	G	A	1	0	0	0	0	1	0	0	0	8660	1058	37	1		1	LGALSL	2	64454570	Missense_Mutation	SNP	G	C3N-00556_TP	3218376	64454570	177738959	69	17423											
ZNF638	0	.	GRCh38	chr2	71423670	71423670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctagtattctggctgtatcaGatgtatctagcagtaaacca	12	13	8	8	0	3	1	1	0	2	1	3	1	3	1	1	1	2	6	1	1	7	7	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.4156G>A	p.Asp1386Asn	p.D1386N	ENST00000409544	22/28	155	119	36	246	246	0	strelka-varscan	ZNF638,missense_variant,p.Asp1386Asn,ENST00000409544,NM_001252612.1;ZNF638,missense_variant,p.Asp1386Asn,ENST00000264447,NM_014497.4,NM_001014972.2,NM_001252613.1;ZNF638,upstream_gene_variant,,ENST00000493576,;ZNF638,upstream_gene_variant,,ENST00000461991,;ZNF638,non_coding_transcript_exon_variant,,ENST00000409407,;ZNF638,non_coding_transcript_exon_variant,,ENST00000487638,;ZNF638,intron_variant,,ENST00000483421,;ZNF638,intron_variant,,ENST00000494241,;ZNF638,upstream_gene_variant,,ENST00000492262,;ZNF638,upstream_gene_variant,,ENST00000472758,;	A	ENST00000409544	Transcript	missense_variant	4786/6821	4156/5937	1386/1978	D/N	Gat/Aat		1		1	ZNF638	HGNC	HGNC:17894	protein_coding	YES	CCDS1917.1	ENSP00000386433	Q14966		UPI000013D51B	NM_001252612.1	tolerated(1)		22/28		hmmpanther:PTHR15592,hmmpanther:PTHR15592:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	71423670	71423670	G	A	1	0	0	0	0	1	0	0	0	18630	942	33	3		3	ZNF638	2	71423670	Missense_Mutation	SNP	G	C3N-00556_TP	6969100	71423670	170769859	70	17424											
DCTN1	0	.	GRCh38	chr2	74368761	74368761	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcatgagcaacagcacCagaacgcagtcatggtcccc	12	4	11	14	2	1	2	1	1	0	1	2	3	2	2	3	2	4	4	3	2	2	0	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1821G>T	p.=	p.L607L	ENST00000361874	16/32	396	303	93	398	398	0	strelka-varscan	DCTN1,synonymous_variant,p.=,ENST00000361874,NM_004082.4;DCTN1,synonymous_variant,p.=,ENST00000628224,;DCTN1,synonymous_variant,p.=,ENST00000394003,NM_001190837.1;DCTN1,synonymous_variant,p.=,ENST00000409240,NM_001190836.1;DCTN1,synonymous_variant,p.=,ENST00000409868,;DCTN1,synonymous_variant,p.=,ENST00000633691,NM_023019.3;DCTN1,synonymous_variant,p.=,ENST00000409438,NM_001135041.2;DCTN1,synonymous_variant,p.=,ENST00000409567,NM_001135040.2;DCTN1,downstream_gene_variant,,ENST00000458655,;DCTN1,intron_variant,,ENST00000497666,;DCTN1,upstream_gene_variant,,ENST00000495643,;DCTN1,downstream_gene_variant,,ENST00000463583,;DCTN1,synonymous_variant,p.=,ENST00000434055,;DCTN1,non_coding_transcript_exon_variant,,ENST00000466110,;DCTN1,upstream_gene_variant,,ENST00000491465,;DCTN1,downstream_gene_variant,,ENST00000477966,;DCTN1,downstream_gene_variant,,ENST00000470351,;DCTN1,upstream_gene_variant,,ENST00000495895,;DCTN1,downstream_gene_variant,,ENST00000462813,;	A	ENST00000361874	Transcript	synonymous_variant	2139/4500	1821/3837	607/1278	L	ctG/ctT		1		-1	DCTN1	HGNC	HGNC:2711	protein_coding	YES	CCDS1939.1	ENSP00000354791	Q14203		UPI0000129A25	NM_004082.4			16/32		Pfam_domain:PF12455,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF40																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	74368761	74368761	C	A	1	0	0	0	0	0	0	0	1	4109	581	21	2		2	DCTN1	2	74368761	Silent	SNP	C	C3N-00556_TP	2945091	74368761	167824768	71	17425											
C2orf68	0	.	GRCh38	chr2	85611896	85611896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgagcgatctggttccgtCggatatggtgcacgaagccg	8	8	14	11	6	1	0	0	0	1	0	3	4	2	1	3	3	3	2	3	3	2	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.89G>A	p.Arg30Gln	p.R30Q	ENST00000306336	1/4	119	107	12	100	100	0	strelka-varscan	C2orf68,missense_variant,p.Arg30Gln,ENST00000306336,NM_001013649.3;C2orf68,missense_variant,p.Arg30Gln,ENST00000409734,;USP39,upstream_gene_variant,,ENST00000323701,NM_006590.3;USP39,upstream_gene_variant,,ENST00000613444,NM_001256727.1;USP39,upstream_gene_variant,,ENST00000450066,NM_001256728.1;USP39,upstream_gene_variant,,ENST00000409470,NM_001256725.1;USP39,upstream_gene_variant,,ENST00000409766,NM_001256726.1;USP39,upstream_gene_variant,,ENST00000409025,;USP39,upstream_gene_variant,,ENST00000448971,;USP39,upstream_gene_variant,,ENST00000442708,;USP39,intron_variant,,ENST00000459775,;USP39,intron_variant,,ENST00000491659,;USP39,intron_variant,,ENST00000474572,;USP39,upstream_gene_variant,,ENST00000455732,;USP39,upstream_gene_variant,,ENST00000465282,;C2orf68,upstream_gene_variant,,ENST00000478626,;C2orf68,missense_variant,p.Arg14Gln,ENST00000420686,;C2orf68,missense_variant,p.Arg30Gln,ENST00000423181,;USP39,upstream_gene_variant,,ENST00000493829,;USP39,upstream_gene_variant,,ENST00000458268,;	T	ENST00000306336	Transcript	missense_variant	134/2837	89/501	30/166	R/Q	cGa/cAa		1		-1	C2orf68	HGNC	HGNC:34353	protein_coding	YES	CCDS42704.1	ENSP00000304410	Q2NKX9	L7T9J5	UPI00002377B0	NM_001013649.3	tolerated(0.07)		1/4		Pfam_domain:PF10573,hmmpanther:PTHR34256																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	85611896	85611896	C	T	1	0	0	0	0	1	0	0	0	2042	884	31	1		1	C2orf68	2	85611896	Missense_Mutation	SNP	C	C3N-00556_TP	11243135	85611896	156581633	72	17426											
SFTPB	0	.	GRCh38	chr2	85667713	85667713	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagacttcctgtaggcaaTgccctagggctctgcactgc	7	9	10	15	0	1	1	0	0	1	1	2	1	2	1	3	2	3	4	3	2	3	3	novel		C3N-00556_TP	C3N-00556_NB	T	T																c.197A>G	p.His66Arg	p.H66R	ENST00000409383	3/12	350	310	40	299	299	0	strelka-varscan	SFTPB,missense_variant,p.His54Arg,ENST00000393822,;SFTPB,missense_variant,p.His54Arg,ENST00000519937,;SFTPB,missense_variant,p.His66Arg,ENST00000409383,NM_198843.2,NM_000542.3;SFTPB,missense_variant,p.His51Arg,ENST00000428225,;SFTPB,upstream_gene_variant,,ENST00000494165,;SFTPB,non_coding_transcript_exon_variant,,ENST00000473692,;SFTPB,upstream_gene_variant,,ENST00000491167,;	C	ENST00000409383	Transcript	missense_variant	297/1867	197/1182	66/393	H/R	cAt/cGt		1		-1	SFTPB	HGNC	HGNC:10801	protein_coding	YES	CCDS1983.2	ENSP00000386346		D6W5L6	UPI0000421A06	NM_198843.2,NM_000542.3	deleterious(0.05)		3/12		Pfam_domain:PF02199,PROSITE_profiles:PS51110,hmmpanther:PTHR11480,hmmpanther:PTHR11480:SF33,SMART_domains:SM00162																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	55	85667713	85667713	T	C	1	0	0	0	0	1	0	0	0	14451	1464	51	5		5	SFTPB	2	85667713	Missense_Mutation	SNP	T	C3N-00556_TP	55817	85667713	156525816	73	17427											
ZC3H8	0	.	GRCh38	chr2	112254972	112254972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggttttgagaaaagattctCaaaatccatgacccagacag	15	9	9	8	0	1	4	1	2	1	3	3	5	2	4	2	1	0	1	2	1	4	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.10G>A	p.Glu4Lys	p.E4K	ENST00000409573	1/9	90	83	7	77	77	0	strelka-varscan	ZC3H8,missense_variant,p.Glu4Lys,ENST00000409573,NM_032494.2;ZC3H8,missense_variant,p.Glu4Lys,ENST00000272570,;ZC3H8,missense_variant,p.Glu4Lys,ENST00000615791,;ZC3H8,non_coding_transcript_exon_variant,,ENST00000474234,;ZC3H8,intron_variant,,ENST00000464305,;ZC3H8,non_coding_transcript_exon_variant,,ENST00000495264,;	T	ENST00000409573	Transcript	missense_variant	140/5965	10/876	4/291	E/K	Gag/Aag		1		-1	ZC3H8	HGNC	HGNC:30941	protein_coding	YES	CCDS46392.1	ENSP00000386488	Q8N5P1		UPI00000467EA	NM_032494.2	deleterious_low_confidence(0)		1/9		hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF21																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	55	112254972	112254972	C	T	1	0	0	0	0	1	0	0	0	18149	835	29	3		3	ZC3H8	2	112254972	Missense_Mutation	SNP	C	C3N-00556_TP	26587259	112254972	129938557	74	17428											
CLASP1	0	.	GRCh38	chr2	121418694	121418694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtatcgcggctgcacccctGactcatgctgggtcgaggga	6	8	15	12	3	1	1	1	1	0	0	3	3	1	2	2	4	2	4	2	4	1	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2248C>G	p.Gln750Glu	p.Q750E	ENST00000263710	23/40	179	166	13	190	190	0	strelka-varscan	CLASP1,missense_variant,p.Gln750Glu,ENST00000263710,NM_015282.2;CLASP1,intron_variant,,ENST00000409078,NM_001142274.1;CLASP1,intron_variant,,ENST00000397587,;CLASP1,intron_variant,,ENST00000541377,NM_001207051.1;CLASP1,intron_variant,,ENST00000455322,NM_001142273.1;CLASP1,intron_variant,,ENST00000452274,;CLASP1,intron_variant,,ENST00000463621,;	C	ENST00000263710	Transcript	missense_variant	2638/8092	2248/4617	750/1538	Q/E	Cag/Gag		1		-1	CLASP1	HGNC	HGNC:17088	protein_coding	YES		ENSP00000263710	Q7Z460		UPI00001A8BFF	NM_015282.2	tolerated(0.1)		23/40		hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF28																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	55	121418694	121418694	G	C	1	0	0	0	0	1	0	0	0	3217	1299	45	4		4	CLASP1	2	121418694	Missense_Mutation	SNP	G	C3N-00556_TP	9163722	121418694	120774835	75	17429											
LRP1B	0	.	GRCh38	chr2	140883862	140883862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctggggtgttccatggctCctgctattagtgtagttctt	4	16	11	10	0	1	0	0	0	1	0	3	0	3	0	3	3	1	5	3	3	3	6	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.4124G>T	p.Gly1375Val	p.G1375V	ENST00000389484	25/91	231	187	44	277	277	0	strelka-varscan	LRP1B,missense_variant,p.Gly1375Val,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Gly520Val,ENST00000434794,;	A	ENST00000389484	Transcript	missense_variant	5096/16535	4124/13800	1375/4599	G/V	gGa/gTa		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0)		25/91		PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Pfam_domain:PF00058,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	140883862	140883862	C	A	1	0	0	0	0	1	0	0	0	8850	855	30	2		2	LRP1B	2	140883862	Missense_Mutation	SNP	C	C3N-00556_TP	19465168	140883862	101309667	76	17430											
GTDC1	0	.	GRCh38	chr2	144145658	144145658	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactggttctcgtgaaaataCagaatctttttcagtttccc	11	15	6	9	1	3	2	1	1	2	1	5	2	4	2	1	1	2	2	1	1	5	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.261G>T	p.=	p.L87L	ENST00000392869	4/11	155	138	17	178	178	0	strelka-varscan	GTDC1,synonymous_variant,p.=,ENST00000392869,;GTDC1,synonymous_variant,p.=,ENST00000409214,NM_001006636.3;GTDC1,synonymous_variant,p.=,ENST00000542155,NM_001164629.3;GTDC1,synonymous_variant,p.=,ENST00000344850,;GTDC1,synonymous_variant,p.=,ENST00000392867,NM_024659.4;GTDC1,synonymous_variant,p.=,ENST00000241391,NM_001284233.1;GTDC1,synonymous_variant,p.=,ENST00000618778,NM_001284238.1;GTDC1,synonymous_variant,p.=,ENST00000409298,;GTDC1,synonymous_variant,p.=,ENST00000437114,;GTDC1,synonymous_variant,p.=,ENST00000417450,;GTDC1,5_prime_UTR_variant,,ENST00000463875,NM_001284234.1;GTDC1,non_coding_transcript_exon_variant,,ENST00000482601,;GTDC1,non_coding_transcript_exon_variant,,ENST00000476958,;GTDC1,synonymous_variant,p.=,ENST00000392871,;GTDC1,3_prime_UTR_variant,,ENST00000415569,;GTDC1,non_coding_transcript_exon_variant,,ENST00000491448,;	A	ENST00000392869	Transcript	synonymous_variant	414/10514	261/1377	87/458	L	ctG/ctT		1		-1	GTDC1	HGNC	HGNC:20887	protein_coding	YES	CCDS33300.1	ENSP00000376608	Q4AE62		UPI000022BC3B				4/11		hmmpanther:PTHR13615,hmmpanther:PTHR13615:SF3,Pfam_domain:PF12038																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	55	144145658	144145658	C	A	1	0	0	0	0	0	0	0	1	6733	465	17	2		2	GTDC1	2	144145658	Silent	SNP	C	C3N-00556_TP	3261796	144145658	98047871	77	17431											
LRP2	0	.	GRCh38	chr2	169128678	169128678	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatagctatacttcagagtcTtctttaacaagatttgcggt	11	16	7	7	1	3	2	1	0	2	2	3	2	3	2	0	1	4	1	0	1	6	9	novel		C3N-00556_TP	C3N-00556_NB	T	T																c.13953A>G	p.=	p.E4651E	ENST00000263816	79/79	315	272	43	382	382	0	strelka-varscan	LRP2,synonymous_variant,p.=,ENST00000263816,NM_004525.2;LRP2,downstream_gene_variant,,ENST00000491228,;	C	ENST00000263816	Transcript	synonymous_variant	14239/15808	13953/13968	4651/4655	E	gaA/gaG		1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2			79/79																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	55	169128678	169128678	T	C	1	0	0	0	0	0	0	0	1	8851	1606	56	5		5	LRP2	2	169128678	Silent	SNP	T	C3N-00556_TP	24983020	169128678	73064851	78	17432											
KLHL41	0	.	GRCh38	chr2	169525592	169525592	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcctccatcaggtatgaaGatgataaaaaagaatgggct	15	11	9	6	0	1	4	1	2	0	2	3	4	3	4	2	2	0	2	2	2	6	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1717G>C	p.Asp573His	p.D573H	ENST00000284669	6/6	131	123	8	129	129	0	strelka-varscan	KLHL41,missense_variant,p.Asp573His,ENST00000284669,NM_006063.2;RP11-724O16.1,missense_variant,p.Asp511His,ENST00000513963,;FASTKD1,downstream_gene_variant,,ENST00000453153,NM_024622.4;FASTKD1,downstream_gene_variant,,ENST00000453929,NM_001281476.1;KLHL41,downstream_gene_variant,,ENST00000463400,;FASTKD1,downstream_gene_variant,,ENST00000495505,;FASTKD1,downstream_gene_variant,,ENST00000490590,;FASTKD1,downstream_gene_variant,,ENST00000488951,;	C	ENST00000284669	Transcript	missense_variant	1794/2464	1717/1821	573/606	D/H	Gat/Cat		1		1	KLHL41	HGNC	HGNC:16905	protein_coding	YES	CCDS2234.1	ENSP00000284669	O60662		UPI0000000DC5	NM_006063.2	deleterious(0)		6/6		Superfamily_domains:0052715,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF146																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	169525592	169525592	G	C	1	0	0	0	0	1	0	0	0	8259	942	33	4		4	KLHL41	2	169525592	Missense_Mutation	SNP	G	C3N-00556_TP	396914	169525592	72667937	79	17433											
MYO3B	0	.	GRCh38	chr2	170382047	170382047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcataccagaagaccttatCatgtggaagatgctgaaaaa	16	9	9	7	0	1	4	1	1	0	3	1	5	1	5	2	1	3	2	2	1	6	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1003C>T	p.His335Tyr	p.H335Y	ENST00000408978	10/35	96	80	16	124	124	0	strelka-varscan	MYO3B,missense_variant,p.His335Tyr,ENST00000408978,NM_138995.4;MYO3B,missense_variant,p.His335Tyr,ENST00000409044,NM_001083615.3;MYO3B,missense_variant,p.His344Tyr,ENST00000484338,;MYO3B,missense_variant,p.His335Tyr,ENST00000442690,;AC012594.1,intron_variant,,ENST00000625968,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,missense_variant,p.His335Tyr,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	T	ENST00000408978	Transcript	missense_variant	1146/5529	1003/4026	335/1341	H/Y	Cat/Tat		1		1	MYO3B	HGNC	HGNC:15576	protein_coding	YES	CCDS42773.1	ENSP00000386213	Q8WXR4		UPI000020907B	NM_138995.4	tolerated(1)		10/35		Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	170382047	170382047	C	T	1	0	0	0	0	1	0	0	0	10078	826	29	3		3	MYO3B	2	170382047	Missense_Mutation	SNP	C	C3N-00556_TP	856455	170382047	71811482	80	17434											
KIAA1715	0	.	GRCh38	chr2	175964401	175964401	+	Missense_Mutation	SNP	C	C	A																															gtcttgcagttacagctgctCcagcagatggcggctcacac																								rs760514072		C3N-00556_TP	C3N-00556_NB	C	C																c.464G>T	p.Gly155Val	p.G155V	ENST00000544803	8/14	156	137	19	155	154	1	strelka-varscan	KIAA1715,missense_variant,p.Gly155Val,ENST00000544803,NM_001305009.1;KIAA1715,missense_variant,p.Gly155Val,ENST00000272748,NM_001305008.1,NM_001305010.1,NM_030650.2;KIAA1715,missense_variant,p.Gly32Val,ENST00000409660,NM_001305011.1;	A	ENST00000544803	Transcript	missense_variant	661/7647	464/1380	155/459	G/V	gGa/gTa	rs760514072	1		-1	KIAA1715	HGNC	HGNC:21610	protein_coding	YES	CCDS77489.1	ENSP00000440905	Q9C0E8		UPI000047FD14	NM_001305009.1	deleterious(0.01)		8/14		hmmpanther:PTHR22166:SF12,hmmpanther:PTHR22166																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	175964401	175964401	C	A	1	0	0	0	0	1	0	0	0	8127	855	30	2		2	KIAA1715	2	175964401	Missense_Mutation	SNP	C	C3N-00556_TP	5582354	175964401	66229128	81	17435	376	2									
KIAA1715	0	.	GRCh38	chr2	175964402	175964402	+	Nonsense_Mutation	SNP	C	C	A																															tcttgcagttacagctgctcCagcagatggcggctcacact																								novel		C3N-00556_TP	C3N-00556_NB	C	C																c.463G>T	p.Gly155Ter	p.G155*	ENST00000544803	8/14	157	137	20	155	155	0	strelka-varscan	KIAA1715,stop_gained,p.Gly155Ter,ENST00000544803,NM_001305009.1;KIAA1715,stop_gained,p.Gly155Ter,ENST00000272748,NM_001305008.1,NM_001305010.1,NM_030650.2;KIAA1715,stop_gained,p.Gly32Ter,ENST00000409660,NM_001305011.1;	A	ENST00000544803	Transcript	stop_gained	660/7647	463/1380	155/459	G/*	Gga/Tga		1		-1	KIAA1715	HGNC	HGNC:21610	protein_coding	YES	CCDS77489.1	ENSP00000440905	Q9C0E8		UPI000047FD14	NM_001305009.1			8/14		hmmpanther:PTHR22166:SF12,hmmpanther:PTHR22166																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	55	175964402	175964402	C	A	1	0	0	0	0	0	1	0	0	8127	603	21	2		2	KIAA1715	2	175964402	Nonsense_Mutation	SNP	C	C3N-00556_TP	1	175964402	66229127	82	17436	376	2									
TTN	0	.	GRCh38	chr2	178589762	178589762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaatgggagtttttgtttCgatggttggcccaacaccta	9	13	11	8	1	0	1	0	0	0	1	1	3	0	2	2	3	1	3	2	3	3	5	rs776314797		C3N-00556_TP	C3N-00556_NB	C	C																c.61963G>A	p.Glu20655Lys	p.E20655K	ENST00000589042	304/363	312	286	26	359	358	1	strelka-varscan	TTN,missense_variant,p.Glu20655Lys,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Glu19014Lys,ENST00000591111,;TTN,missense_variant,p.Glu19014Lys,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Glu18087Lys,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Glu11590Lys,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Glu11782Lys,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Glu11715Lys,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000590743,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000629117,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000626517,;TTN-AS1,downstream_gene_variant,,ENST00000586707,;TTN-AS1,downstream_gene_variant,,ENST00000592600,;TTN-AS1,upstream_gene_variant,,ENST00000589234,;TTN-AS1,downstream_gene_variant,,ENST00000586831,;TTN-AS1,upstream_gene_variant,,ENST00000610290,;	T	ENST00000589042	Transcript	missense_variant	62188/109224	61963/107976	20655/35991	E/K	Gaa/Aaa	rs776314797,COSM2900970,COSM2900971,COSM2900972,COSM2900973	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			304/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Superfamily_domains:SSF49265											0,1,1,1,1						MODERATE		SNV	5		0,1,1,1,1	1										PASS		.	.												T	3	4	55	178589762	178589762	C	T	1	0	0	0	0	1	0	0	0	17245	893	31	1		1	TTN	2	178589762	Missense_Mutation	SNP	C	C3N-00556_TP	2625360	178589762	63603767	83	17437											
TTN	0	.	GRCh38	chr2	178607918	178607918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtactgacggaccttgatCatcttctctgtgcagcgtga	7	13	11	10	2	3	3	1	3	2	0	4	4	3	4	1	1	3	2	1	1	1	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.52869G>A	p.Met17623Ile	p.M17623I	ENST00000589042	276/363	450	400	50	472	472	0	strelka-varscan	TTN,missense_variant,p.Met17623Ile,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Met15982Ile,ENST00000591111,;TTN,missense_variant,p.Met15982Ile,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Met15055Ile,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Met8558Ile,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Met8750Ile,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Met8683Ile,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000610290,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000419746,;TTN-AS1,downstream_gene_variant,,ENST00000586452,;TTN-AS1,upstream_gene_variant,,ENST00000627527,;	T	ENST00000589042	Transcript	missense_variant	53094/109224	52869/107976	17623/35991	M/I	atG/atA		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			276/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	55	178607918	178607918	C	T	1	0	0	0	0	1	0	0	0	17245	826	29	3		3	TTN	2	178607918	Missense_Mutation	SNP	C	C3N-00556_TP	18156	178607918	63585611	84	17438											
ZNF804A	0	.	GRCh38	chr2	184936379	184936379	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagataattgtcaaaattCagtcccattagcagatcaaa	16	11	6	8	0	3	2	3	0	0	2	4	2	4	2	1	0	2	2	1	0	5	4	rs866933954		C3N-00556_TP	C3N-00556_NB	C	C																c.983C>A	p.Ser328Ter	p.S328*	ENST00000302277	4/4	137	116	21	208	208	0	strelka-varscan-mutect	ZNF804A,stop_gained,p.Ser328Ter,ENST00000302277,NM_194250.1;ZNF804A,stop_gained,p.Ser243Ter,ENST00000613975,;	A	ENST00000302277	Transcript	stop_gained	1577/4690	983/3630	328/1209	S/*	tCa/tAa	rs866933954,COSM3896167	1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1			4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs866933954	.												A	4	1	55	184936379	184936379	C	A	1	0	0	0	0	0	1	0	0	18755	838	29	2		2	ZNF804A	2	184936379	Nonsense_Mutation	SNP	C	C3N-00556_TP	6328461	184936379	57257150	85	17439											
ITGAV	0	.	GRCh38	chr2	186590366	186590366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccgccgcggcgacggctgCgcctcggtccccgcggcctc	1	6	14	20	9	0	0	0	0	0	0	4	1	2	0	6	4	1	1	6	4	0	1			C3N-00556_TP	C3N-00556_NB	C	C																c.28C>T	p.Arg10Cys	p.R10C	ENST00000261023	1/30	167	157	10	151	151	0	strelka-varscan-mutect	ITGAV,missense_variant,p.Arg10Cys,ENST00000261023,NM_002210.4;ITGAV,missense_variant,p.Arg10Cys,ENST00000374907,NM_001145000.2;	T	ENST00000261023	Transcript	missense_variant	302/7030	28/3147	10/1048	R/C	Cgc/Tgc	COSM418963	1		1	ITGAV	HGNC	HGNC:6150	protein_coding	YES	CCDS2292.1	ENSP00000261023	P06756	L7RXH0	UPI000013D12E	NM_002210.4	tolerated(0.13)		1/30		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23220:SF4,hmmpanther:PTHR23220											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	55	186590366	186590366	C	T	1	0	0	0	0	1	0	0	0	7795	768	27	1		1	ITGAV	2	186590366	Missense_Mutation	SNP	C	C3N-00556_TP	1653987	186590366	55603163	86	17440											
BMPR2	0	.	GRCh38	chr2	202555433	202555433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgaaattcaattaactatGaacgacagcaagcacaagct	18	7	6	10	2	1	1	1	1	0	0	1	3	1	1	1	0	5	3	1	0	7	3			C3N-00556_TP	C3N-00556_NB	G	G																c.1768G>A	p.Glu590Lys	p.E590K	ENST00000374580	12/13	169	159	10	223	222	1	strelka-varscan-mutect	BMPR2,missense_variant,p.Glu590Lys,ENST00000374580,NM_001204.6;BMPR2,intron_variant,,ENST00000374574,;	A	ENST00000374580	Transcript	missense_variant	2307/11461	1768/3117	590/1038	E/K	Gaa/Aaa	COSM3798523	1		1	BMPR2	HGNC	HGNC:1078	protein_coding	YES	CCDS33361.1	ENSP00000363708	Q13873		UPI0000126A3B	NM_001204.6	deleterious(0.01)		12/13													1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	55	202555433	202555433	G	A	1	0	0	0	0	1	0	0	0	1626	1291	45	3		3	BMPR2	2	202555433	Missense_Mutation	SNP	G	C3N-00556_TP	15965067	202555433	39638096	87	17441											
ALPP	0	.	GRCh38	chr2	232379625	232379625	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtgcagccgcccgctttaAccagtgcaacacgacacgcg	10	5	11	15	5	0	0	0	0	0	0	0	2	0	0	3	0	5	3	3	0	2	2	novel		C3N-00556_TP	C3N-00556_NB	A	A																c.422A>G	p.Asn141Ser	p.N141S	ENST00000392027	4/11	221	192	29	286	286	0	varscan-mutect	ALPP,missense_variant,p.Asn141Ser,ENST00000392027,NM_001632.4;AC068134.8,downstream_gene_variant,,ENST00000441266,;AC068134.8,downstream_gene_variant,,ENST00000439072,;ALPP,non_coding_transcript_exon_variant,,ENST00000474529,;ALPP,upstream_gene_variant,,ENST00000485563,;	G	ENST00000392027	Transcript	missense_variant	691/2971	422/1608	141/535	N/S	aAc/aGc		1		1	ALPP	HGNC	HGNC:439	protein_coding	YES	CCDS2490.1	ENSP00000375881	P05187		UPI0000131FF9	NM_001632.4	tolerated(0.67)		4/11		Gene3D:3.40.720.10,Pfam_domain:PF00245,hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF31,SMART_domains:SM00098,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		rs1435270301	.												G	3	3	55	232379625	232379625	A	G	1	0	0	0	0	1	0	0	0	648	43	2	5		5	ALPP	2	232379625	Missense_Mutation	SNP	A	C3N-00556_TP	29824192	232379625	9813904	88	17442											
ATG16L1	0	.	GRCh38	chr2	233292153	233292153	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agagcatagttcgagagatgGagctgttgggaaagattact	13	10	14	4	1	0	3	0	0	0	3	1	7	0	5	0	2	3	4	0	2	3	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1456G>C	p.Glu486Gln	p.E486Q	ENST00000392017	15/18	174	159	15	161	161	0	strelka-varscan-mutect	ATG16L1,missense_variant,p.Glu486Gln,ENST00000392017,NM_001190266.1,NM_001190267.1,NM_030803.6;ATG16L1,missense_variant,p.Glu503Gln,ENST00000392018,;ATG16L1,missense_variant,p.Glu467Gln,ENST00000392020,NM_017974.3;ATG16L1,missense_variant,p.Glu323Gln,ENST00000347464,NM_198890.2;ATG16L1,missense_variant,p.Glu307Gln,ENST00000373525,;SCARNA6,downstream_gene_variant,,ENST00000515982,;ATG16L1,downstream_gene_variant,,ENST00000498620,;ATG16L1,downstream_gene_variant,,ENST00000464645,;ATG16L1,3_prime_UTR_variant,,ENST00000392021,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000474148,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000479942,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000473865,;	C	ENST00000392017	Transcript	missense_variant	1713/3405	1456/1824	486/607	E/Q	Gag/Cag		1		1	ATG16L1	HGNC	HGNC:21498	protein_coding	YES	CCDS2503.2	ENSP00000375872	Q676U5		UPI0000208D0D	NM_001190266.1,NM_001190267.1,NM_030803.6	tolerated(0.5)		15/18		PROSITE_profiles:PS50294,hmmpanther:PTHR19878:SF6,hmmpanther:PTHR19878,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	233292153	233292153	G	C	1	0	0	0	0	1	0	0	0	1243	1175	41	4		4	ATG16L1	2	233292153	Missense_Mutation	SNP	G	C3N-00556_TP	912528	233292153	8901376	89	17443											
USP40	0	.	GRCh38	chr2	233524527	233524527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaaagatgtcttccccatCagcaatttcagtttcacaca	13	11	4	13	0	4	1	3	0	1	1	5	1	5	1	2	0	1	2	2	0	2	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1879G>A	p.Asp627Asn	p.D627N	ENST00000450966	14/31	139	126	13	134	134	0	strelka-varscan-mutect	USP40,missense_variant,p.Asp615Asn,ENST00000251722,;USP40,missense_variant,p.Asp627Asn,ENST00000450966,NM_018218.2;USP40,missense_variant,p.Asp615Asn,ENST00000427112,;USP40,upstream_gene_variant,,ENST00000452724,;USP40,downstream_gene_variant,,ENST00000485943,;	T	ENST00000450966	Transcript	missense_variant	1879/5616	1879/3744	627/1247	D/N	Gat/Aat		1		-1	USP40	HGNC	HGNC:20069	protein_coding	YES	CCDS46547.1	ENSP00000415434	Q9NVE5		UPI0000232F06	NM_018218.2	tolerated(0.07)		14/31																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	233524527	233524527	C	T	1	0	0	0	0	1	0	0	0	17614	826	29	3		3	USP40	2	233524527	Missense_Mutation	SNP	C	C3N-00556_TP	232374	233524527	8669002	90	17444											
UGT1A5	0	.	GRCh38	chr2	233713510	233713510	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcctgctgtgtttttcttGaggaacattccatgtgattt	7	19	8	7	0	1	2	0	2	1	0	3	3	3	3	2	1	2	2	2	1	1	6	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.519G>C	p.Leu173Phe	p.L173F	ENST00000373414	1/5	183	171	12	282	282	0	varscan-mutect	UGT1A5,missense_variant,p.Leu173Phe,ENST00000373414,NM_019078.1;UGT1A6,intron_variant,,ENST00000305139,NM_001072.3;UGT1A9,intron_variant,,ENST00000354728,NM_021027.2;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A7,intron_variant,,ENST00000373426,NM_019077.2;UGT1A10,intron_variant,,ENST00000373445,;UGT1A6,intron_variant,,ENST00000373424,NM_205862.1;UGT1A6,intron_variant,,ENST00000406651,;AC114812.8,upstream_gene_variant,,ENST00000439336,;UGT1A6,intron_variant,,ENST00000480628,;UGT1A6,intron_variant,,ENST00000478062,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A6,intron_variant,,ENST00000484784,;	C	ENST00000373414	Transcript	missense_variant	519/2345	519/1605	173/534	L/F	ttG/ttC		1		1	UGT1A5	HGNC	HGNC:12537	protein_coding	YES	CCDS33404.1	ENSP00000362513	P35504	Q5DSZ9	UPI0000001043	NM_019078.1	tolerated(0.1)		1/5		Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF173,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		rs956773418	.												C	3	2	55	233713510	233713510	G	C	1	0	0	0	0	1	0	0	0	17473	1281	45	4		4	UGT1A5	2	233713510	Missense_Mutation	SNP	G	C3N-00556_TP	188983	233713510	8480019	91	17445											
RNPEPL1	0	.	GRCh38	chr2	240575034	240575034	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgttcaccttgcaggagtGaatcccagccacctgatgaa	10	9	11	11	0	1	3	1	3	0	0	2	4	2	4	4	2	2	2	4	2	2	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.600G>A	p.=	p.V200V	ENST00000270357	7/11	137	115	22	131	131	0	strelka-varscan-mutect	RNPEPL1,synonymous_variant,p.=,ENST00000270357,NM_018226.4;RNPEPL1,intron_variant,,ENST00000451363,;RNPEPL1,upstream_gene_variant,,ENST00000437406,;RNPEPL1,non_coding_transcript_exon_variant,,ENST00000464550,;RNPEPL1,non_coding_transcript_exon_variant,,ENST00000481757,;RNPEPL1,non_coding_transcript_exon_variant,,ENST00000486058,;RNPEPL1,non_coding_transcript_exon_variant,,ENST00000493398,;RNPEPL1,non_coding_transcript_exon_variant,,ENST00000460884,;RNPEPL1,upstream_gene_variant,,ENST00000471657,;RNPEPL1,upstream_gene_variant,,ENST00000498042,;	A	ENST00000270357	Transcript	synonymous_variant	1193/5558	600/1485	200/494	V	gtG/gtA		1		1	RNPEPL1	HGNC	HGNC:10079	protein_coding	YES		ENSP00000270357	Q9HAU8		UPI000013D885	NM_018226.4			7/11		hmmpanther:PTHR11533:SF6,hmmpanther:PTHR11533,Pfam_domain:PF01433,Gene3D:1.10.390.10,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	240575034	240575034	G	A	1	0	0	0	0	0	0	0	1	13689	1304	45	3		3	RNPEPL1	2	240575034	Silent	SNP	G	C3N-00556_TP	6861524	240575034	1618495	92	17446											
C3orf20	0	.	GRCh38	chr3	14704595	14704595	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaagtttcattacaccttCtatgatggctcctccttcgt	7	17	5	12	1	3	1	2	1	1	0	6	1	5	1	3	1	1	2	3	1	3	6	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1137C>G	p.Phe379Leu	p.F379L	ENST00000253697	7/17	182	159	23	270	270	0	strelka-varscan-mutect	C3orf20,missense_variant,p.Phe379Leu,ENST00000253697,NM_032137.4;C3orf20,missense_variant,p.Phe257Leu,ENST00000435614,NM_001184958.1;C3orf20,missense_variant,p.Phe257Leu,ENST00000412910,NM_001184957.1;C3orf20,non_coding_transcript_exon_variant,,ENST00000495387,;	G	ENST00000253697	Transcript	missense_variant	1589/3326	1137/2715	379/904	F/L	ttC/ttG		1		1	C3orf20	HGNC	HGNC:25320	protein_coding	YES	CCDS33706.1	ENSP00000253697	Q8ND61		UPI000013CDE9	NM_032137.4	tolerated(0.16)		7/17		hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF16,Pfam_domain:PF14977																	MODERATE	1	SNV	1			1										PASS		rs1368286770	.												G	3	3	55	14704595	14704595	C	G	1	0	0	0	0	1	0	0	0	2061	912	32	4		4	C3orf20	3	14704595	Missense_Mutation	SNP	C	C3N-00556_TP		14704595	183590964	93	17447											
TGFBR2	0	.	GRCh38	chr3	30691570	30691570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcggaggagaagattcctGaagacggctccctaaacact	12	7	11	11	2	0	4	0	1	0	3	3	6	2	5	2	3	1	2	2	3	4	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1750G>A	p.Glu584Lys	p.E584K	ENST00000359013	8/8	295	275	20	310	309	1	strelka-varscan-mutect	TGFBR2,missense_variant,p.Glu559Lys,ENST00000295754,NM_003242.5;TGFBR2,missense_variant,p.Glu584Lys,ENST00000359013,NM_001024847.2;	A	ENST00000359013	Transcript	missense_variant	2033/4605	1750/1779	584/592	E/K	Gaa/Aaa		1		1	TGFBR2	HGNC	HGNC:11773	protein_coding	YES	CCDS33727.1	ENSP00000351905	P37173	D2JYI1	UPI000053030E	NM_001024847.2	deleterious_low_confidence(0.01)		8/8		hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF55,PIRSF_domain:PIRSF037393																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	30691570	30691570	G	A	1	0	0	0	0	1	0	0	0	16255	1291	45	3		3	TGFBR2	3	30691570	Missense_Mutation	SNP	G	C3N-00556_TP	15986975	30691570	167603989	94	17448											
TTC21A	0	.	GRCh38	chr3	39138578	39138578	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcaaacttgctttcaactaCctgaaggacaagaaatttgt	14	13	6	8	0	2	2	2	1	0	1	2	3	2	3	1	1	4	1	1	1	6	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.3840C>A	p.Tyr1280Ter	p.Y1280*	ENST00000431162	28/29	253	227	26	338	336	2	strelka-varscan-mutect	TTC21A,stop_gained,p.Tyr1280Ter,ENST00000431162,NM_145755.2;TTC21A,stop_gained,p.Tyr1232Ter,ENST00000440121,NM_001105513.2;CSRNP1,downstream_gene_variant,,ENST00000273153,NM_001320560.1,NM_001320559.1,NM_033027.3;CSRNP1,downstream_gene_variant,,ENST00000514182,;TTC21A,downstream_gene_variant,,ENST00000621888,;TTC21A,non_coding_transcript_exon_variant,,ENST00000493856,;TTC21A,non_coding_transcript_exon_variant,,ENST00000472866,;TTC21A,downstream_gene_variant,,ENST00000481734,;TTC21A,downstream_gene_variant,,ENST00000490245,;TTC21A,downstream_gene_variant,,ENST00000465962,;TTC21A,3_prime_UTR_variant,,ENST00000430597,;TTC21A,non_coding_transcript_exon_variant,,ENST00000460460,;TTC21A,downstream_gene_variant,,ENST00000473587,;	A	ENST00000431162	Transcript	stop_gained	3974/4209	3840/3963	1280/1320	Y/*	taC/taA		1		1	TTC21A	HGNC	HGNC:30761	protein_coding	YES	CCDS46800.1	ENSP00000398211	Q8NDW8		UPI00015D46B9	NM_145755.2			28/29		PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF2,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	55	39138578	39138578	C	A	1	0	0	0	0	0	1	0	0	17195	518	18	2		2	TTC21A	3	39138578	Nonsense_Mutation	SNP	C	C3N-00556_TP	8447008	39138578	159156981	95	17449											
TOPAZ1	0	.	GRCh38	chr3	44243601	44243601	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgttgcaagaaaatcaaatGattgctgatggtaaagaagc	17	10	10	4	0	1	4	1	2	0	2	1	4	1	4	0	1	3	4	0	1	7	3	rs762485741		C3N-00556_TP	C3N-00556_NB	G	G																c.1095G>C	p.Met365Ile	p.M365I	ENST00000309765	2/20	188	171	17	236	236	0	strelka-varscan-mutect	TOPAZ1,missense_variant,p.Met365Ile,ENST00000309765,NM_001145030.1;	C	ENST00000309765	Transcript	missense_variant	1263/5334	1095/5079	365/1692	M/I	atG/atC	rs762485741	1		1	TOPAZ1	HGNC	HGNC:24746	protein_coding	YES	CCDS46809.1	ENSP00000310303	Q8N9V7		UPI000047FF75	NM_001145030.1	tolerated(0.61)		2/20		hmmpanther:PTHR35671,hmmpanther:PTHR35671:SF1																	MODERATE	1	SNV	5			1										PASS		rs762485741	.												C	3	2	55	44243601	44243601	G	C	1	0	0	0	0	1	0	0	0	16845	1290	45	4		4	TOPAZ1	3	44243601	Missense_Mutation	SNP	G	C3N-00556_TP	5105023	44243601	154051958	96	17450											
TOPAZ1	0	.	GRCh38	chr3	44243713	44243713	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagtgtcccagaaacagtaGaaaaagaaacaagttctgaa	20	7	8	6	0	1	4	0	1	1	3	2	4	2	4	1	0	2	2	1	0	8	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1207G>C	p.Glu403Gln	p.E403Q	ENST00000309765	2/20	115	109	6	195	195	0	strelka-varscan-mutect	TOPAZ1,missense_variant,p.Glu403Gln,ENST00000309765,NM_001145030.1;	C	ENST00000309765	Transcript	missense_variant	1375/5334	1207/5079	403/1692	E/Q	Gaa/Caa		1		1	TOPAZ1	HGNC	HGNC:24746	protein_coding	YES	CCDS46809.1	ENSP00000310303	Q8N9V7		UPI000047FF75	NM_001145030.1	tolerated(0.36)		2/20		hmmpanther:PTHR35671,hmmpanther:PTHR35671:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	55	44243713	44243713	G	C	1	0	0	0	0	1	0	0	0	16845	943	33	4		4	TOPAZ1	3	44243713	Missense_Mutation	SNP	G	C3N-00556_TP	112	44243713	154051846	97	17451											
ZKSCAN7	0	.	GRCh38	chr3	44570059	44570059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactggagatgtttgtgaaGatactttcaaggagttagaa	14	12	12	3	0	1	5	1	1	0	4	1	7	1	6	0	2	1	2	0	2	5	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.949G>A	p.Asp317Asn	p.D317N	ENST00000273320	6/6	98	87	11	154	154	0	strelka-varscan-mutect	ZKSCAN7,missense_variant,p.Asp317Asn,ENST00000273320,NM_018651.3,NM_001288590.1;ZKSCAN7,missense_variant,p.Asp317Asn,ENST00000426540,;ZKSCAN7,missense_variant,p.Asp166Asn,ENST00000447279,NM_001288592.1;ZKSCAN7,intron_variant,,ENST00000341840,NM_025169.2;ZKSCAN7,intron_variant,,ENST00000431636,NM_001288591.1;ZKSCAN7,intron_variant,,ENST00000419137,;RP11-944L7.4,intron_variant,,ENST00000457331,;ZKSCAN7,3_prime_UTR_variant,,ENST00000418719,;ZKSCAN7,downstream_gene_variant,,ENST00000496563,;	A	ENST00000273320	Transcript	missense_variant	1378/3477	949/2265	317/754	D/N	Gat/Aat		1		1	ZKSCAN7	HGNC	HGNC:12955	protein_coding	YES	CCDS2715.1	ENSP00000273320	Q9P0L1		UPI000013D9A9	NM_018651.3,NM_001288590.1	tolerated(0.06)		6/6		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF205																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	44570059	44570059	G	A	1	0	0	0	0	1	0	0	0	18269	942	33	3		3	ZKSCAN7	3	44570059	Missense_Mutation	SNP	G	C3N-00556_TP	326346	44570059	153725500	98	17452											
TMIE	0	.	GRCh38	chr3	46709650	46709650	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatcaaagtagaggaggatGagaagaatgaggccaagaag	18	4	14	5	0	1	5	1	2	0	4	1	8	1	7	2	3	0	1	2	3	6	1	rs780884910		C3N-00556_TP	C3N-00556_NB	G	G																c.433G>C	p.Glu145Gln	p.E145Q	ENST00000326431	4/4	384	358	26	483	482	1	strelka-varscan-mutect	TMIE,missense_variant,p.Glu145Gln,ENST00000326431,NM_147196.2;PRSS50,downstream_gene_variant,,ENST00000460241,;PRSS50,downstream_gene_variant,,ENST00000315170,NM_013270.4;	C	ENST00000326431	Transcript	missense_variant	588/1824	433/471	145/156	E/Q	Gag/Cag	rs780884910	1		1	TMIE	HGNC	HGNC:30800	protein_coding	YES	CCDS43081.1	ENSP00000324775	Q8NEW7		UPI0000141917	NM_147196.2	tolerated(0.2)		4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR28635																	MODERATE	1	SNV	1			1										PASS		rs780884910	.												C	3	2	55	46709650	46709650	G	C	1	0	0	0	0	1	0	0	0	16704	1291	45	4		4	TMIE	3	46709650	Missense_Mutation	SNP	G	C3N-00556_TP	2139591	46709650	151585909	99	17453											
HYAL2	0	.	GRCh38	chr3	50319952	50319952	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaactgctgtgctgcgaactCaaactcatattgtgcctgtt	9	13	9	10	1	2	0	2	0	0	0	2	2	2	0	1	0	7	3	1	0	4	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.538G>C	p.Glu180Gln	p.E180Q	ENST00000447092	1/3	177	164	13	230	230	0	strelka-varscan-mutect	HYAL2,missense_variant,p.Glu180Gln,ENST00000447092,;HYAL2,missense_variant,p.Glu180Gln,ENST00000442581,NM_033158.4;HYAL2,missense_variant,p.Glu180Gln,ENST00000395139,;HYAL2,missense_variant,p.Glu180Gln,ENST00000357750,NM_003773.4;TUSC2,downstream_gene_variant,,ENST00000232496,NM_007275.2;HYAL2,downstream_gene_variant,,ENST00000458018,;HYAL2,downstream_gene_variant,,ENST00000428028,;HYAL2,downstream_gene_variant,,ENST00000424190,;HYAL2,downstream_gene_variant,,ENST00000426286,;HYAL2,downstream_gene_variant,,ENST00000415028,;TUSC2,downstream_gene_variant,,ENST00000462137,;HYAL2,non_coding_transcript_exon_variant,,ENST00000481597,;	G	ENST00000447092	Transcript	missense_variant	2831/4054	538/1422	180/473	E/Q	Gag/Cag		1		-1	HYAL2	HGNC	HGNC:5321	protein_coding	YES	CCDS2818.1	ENSP00000401853	Q12891		UPI000013C4E6		deleterious(0.01)		1/3		Gene3D:3.20.20.70,Pfam_domain:PF01630,PIRSF_domain:PIRSF038193,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF6,Low_complexity_(Seg):seg,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	50319952	50319952	C	G	1	0	0	0	0	1	0	0	0	7360	835	29	4		4	HYAL2	3	50319952	Missense_Mutation	SNP	C	C3N-00556_TP	3610302	50319952	147975607	100	17454											
STAB1	0	.	GRCh38	chr3	52505121	52505121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgcggtggcaggccccctCtgggacccctggggatccca	4	6	14	17	1	1	0	0	0	1	0	2	2	2	2	6	6	1	1	6	6	0	0	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1496C>T	p.Ser499Phe	p.S499F	ENST00000321725	13/69	130	120	10	151	151	0	strelka-varscan-mutect	STAB1,missense_variant,p.Ser499Phe,ENST00000321725,NM_015136.2;STAB1,non_coding_transcript_exon_variant,,ENST00000481607,;STAB1,downstream_gene_variant,,ENST00000479355,;STAB1,upstream_gene_variant,,ENST00000484850,;	T	ENST00000321725	Transcript	missense_variant	1572/7928	1496/7713	499/2570	S/F	tCt/tTt		1		1	STAB1	HGNC	HGNC:18628	protein_coding	YES	CCDS33768.1	ENSP00000312946	Q9NY15		UPI0000140C12	NM_015136.2	tolerated(0.17)		13/69		hmmpanther:PTHR24038,hmmpanther:PTHR24038:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	52505121	52505121	C	T	1	0	0	0	0	1	0	0	0	15615	913	32	3		3	STAB1	3	52505121	Missense_Mutation	SNP	C	C3N-00556_TP	2185169	52505121	145790438	101	17455											
SMIM4	0	.	GRCh38	chr3	52540512	52540512	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcagcagtcaataaagtCaatatgaatttttactattg	15	15	5	6	0	3	1	3	1	0	0	3	1	3	1	0	0	2	1	0	0	8	8	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.107C>A	p.Ser36Ter	p.S36*	ENST00000307106	2/2	96	87	9	85	85	0	strelka-varscan-mutect	SMIM4,stop_gained,p.Ser36Ter,ENST00000307106,;SMIM4,3_prime_UTR_variant,,ENST00000477703,NM_001124767.1;SMIM4,intron_variant,,ENST00000476842,;PBRM1,downstream_gene_variant,,ENST00000356770,;SMIM4,non_coding_transcript_exon_variant,,ENST00000482728,;SMIM4,non_coding_transcript_exon_variant,,ENST00000491607,;	A	ENST00000307106	Transcript	stop_gained	261/274	107/114	36/37	S/*	tCa/tAa		1		1	SMIM4	HGNC	HGNC:37257	protein_coding			ENSP00000305661		F8W7Q2	UPI000020AD34				2/2																			HIGH		SNV	2			1										PASS		.	.												A	4	1	55	52540512	52540512	C	A	1	0	0	0	0	0	1	0	0	15112	838	29	2		2	SMIM4	3	52540512	Nonsense_Mutation	SNP	C	C3N-00556_TP	35391	52540512	145755047	102	17456											
ITIH1	0	.	GRCh38	chr3	52789778	52789778	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagttggaagtgactcctCagaacattacgctgaacccc	11	10	8	12	1	2	3	2	2	0	1	3	4	3	4	3	1	3	2	3	1	4	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2245C>G	p.Gln749Glu	p.Q749E	ENST00000273283	19/22	302	279	23	306	305	1	strelka-varscan-mutect	ITIH1,missense_variant,p.Gln749Glu,ENST00000273283,NM_002215.3,NM_001166434.2;ITIH1,missense_variant,p.Gln461Glu,ENST00000537050,NM_001166435.2,NM_001166436.2;ITIH1,missense_variant,p.Gln302Glu,ENST00000428133,;ITIH1,missense_variant,p.Gln115Glu,ENST00000405128,;ITIH3,upstream_gene_variant,,ENST00000621946,;ITIH1,non_coding_transcript_exon_variant,,ENST00000628722,;ITIH1,non_coding_transcript_exon_variant,,ENST00000482836,;ITIH1,upstream_gene_variant,,ENST00000494705,;ITIH3,upstream_gene_variant,,ENST00000467268,;ITIH1,downstream_gene_variant,,ENST00000484844,;	G	ENST00000273283	Transcript	missense_variant	2269/2911	2245/2736	749/911	Q/E	Cag/Gag		1		1	ITIH1	HGNC	HGNC:6166	protein_coding	YES	CCDS2864.1	ENSP00000273283	P19827		UPI000012DA1C	NM_002215.3,NM_001166434.2	tolerated(1)		19/22		hmmpanther:PTHR10338:SF106,hmmpanther:PTHR10338,Pfam_domain:PF06668																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	52789778	52789778	C	G	1	0	0	0	0	1	0	0	0	7809	827	29	4		4	ITIH1	3	52789778	Missense_Mutation	SNP	C	C3N-00556_TP	249266	52789778	145505781	103	17457											
MORC1	0	.	GRCh38	chr3	109114403	109114403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgcattgtccagcaattCagccagtgctccaaaaagga	12	9	8	12	0	1	0	1	0	0	0	3	1	3	1	4	1	4	3	4	1	3	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.100G>A	p.Glu34Lys	p.E34K	ENST00000232603	2/28	269	237	32	250	250	0	strelka-varscan-mutect	MORC1,missense_variant,p.Glu34Lys,ENST00000232603,NM_014429.3;MORC1,missense_variant,p.Glu34Lys,ENST00000483760,;MORC1-AS1,downstream_gene_variant,,ENST00000480826,;FLJ22763,upstream_gene_variant,,ENST00000479039,;	T	ENST00000232603	Transcript	missense_variant	183/3764	100/2955	34/984	E/K	Gaa/Aaa		1		-1	MORC1	HGNC	HGNC:7198	protein_coding	YES	CCDS2955.1	ENSP00000232603	Q86VD1		UPI000013C964	NM_014429.3	deleterious(0)		2/28		hmmpanther:PTHR23337:SF6,hmmpanther:PTHR23337,Gene3D:3.30.565.10,Pfam_domain:PF13589,Superfamily_domains:SSF55874																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	109114403	109114403	C	T	1	0	0	0	0	1	0	0	0	9665	835	29	3		3	MORC1	3	109114403	Missense_Mutation	SNP	C	C3N-00556_TP	56324625	109114403	89181156	104	17458											
CCDC191	0	.	GRCh38	chr3	113980784	113980784	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaattctcttctgcttctCaagttctttctggaaaagat	9	18	5	9	0	5	1	1	0	5	1	7	2	5	2	0	1	1	2	0	1	4	6	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2173G>C	p.Glu725Gln	p.E725Q	ENST00000295878	14/17	323	267	56	335	335	0	strelka-varscan-mutect	CCDC191,missense_variant,p.Glu725Gln,ENST00000295878,NM_020817.1;CCDC191,3_prime_UTR_variant,,ENST00000460813,;CCDC191,non_coding_transcript_exon_variant,,ENST00000527855,;RP11-255E6.5,upstream_gene_variant,,ENST00000605304,;	G	ENST00000295878	Transcript	missense_variant	2320/3976	2173/2811	725/936	E/Q	Gag/Cag		1		-1	CCDC191	HGNC	HGNC:29272	protein_coding	YES	CCDS2977.1	ENSP00000295878	Q8NCU4		UPI00000732E9	NM_020817.1	deleterious(0)		14/17		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22028,hmmpanther:PTHR22028:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	113980784	113980784	C	G	1	0	0	0	0	1	0	0	0	2506	835	29	4		4	CCDC191	3	113980784	Missense_Mutation	SNP	C	C3N-00556_TP	4866381	113980784	84314775	105	17459											
CCDC14	0	.	GRCh38	chr3	123931515	123931515	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgacatattcaatgactGaagagaaaacactgttaaga	18	9	8	6	0	1	5	1	3	0	2	1	6	1	5	0	0	1	1	0	0	6	3	rs868462664		C3N-00556_TP	C3N-00556_NB	G	G																c.1459C>G	p.Gln487Glu	p.Q487E	ENST00000488653	10/12	88	80	8	115	115	0	strelka-varscan-mutect	CCDC14,missense_variant,p.Gln328Glu,ENST00000485727,;CCDC14,missense_variant,p.Gln328Glu,ENST00000489746,;CCDC14,missense_variant,p.Gln487Glu,ENST00000488653,NM_022757.4;CCDC14,missense_variant,p.Gln487Glu,ENST00000433542,;CCDC14,missense_variant,p.Gln439Glu,ENST00000310351,;CCDC14,missense_variant,p.Gln480Glu,ENST00000409697,;CCDC14,missense_variant,p.Gln169Glu,ENST00000419247,;CCDC14,missense_variant,p.Gln110Glu,ENST00000479903,;CCDC14,intron_variant,,ENST00000483247,;CCDC14,intron_variant,,ENST00000463996,;CCDC14,3_prime_UTR_variant,,ENST00000409657,;CCDC14,non_coding_transcript_exon_variant,,ENST00000495381,;CCDC14,upstream_gene_variant,,ENST00000487498,;CCDC14,downstream_gene_variant,,ENST00000471054,;CCDC14,downstream_gene_variant,,ENST00000485949,;	C	ENST00000488653	Transcript	missense_variant	1550/4156	1459/2739	487/912	Q/E	Cag/Gag	rs868462664	1		-1	CCDC14	HGNC	HGNC:25766	protein_coding	YES	CCDS3025.2	ENSP00000420180	Q49A88		UPI00016632FB	NM_022757.4	deleterious(0)		10/12		Low_complexity_(Seg):seg,hmmpanther:PTHR22367:SF2,hmmpanther:PTHR22367,Pfam_domain:PF15254																	MODERATE	1	SNV	1			1										PASS		rs868462664	.												C	3	2	55	123931515	123931515	G	C	1	0	0	0	0	1	0	0	0	2462	1299	45	4		4	CCDC14	3	123931515	Missense_Mutation	SNP	G	C3N-00556_TP	9950731	123931515	74364044	106	17460											
DNAJC13	0	.	GRCh38	chr3	132465998	132465998	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtctgcttttttcagacaGctaagtagacatttagtggg	10	14	10	7	1	2	2	1	0	1	2	2	2	2	2	0	1	2	3	0	1	3	7	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1896G>C	p.Gln632His	p.Q632H	ENST00000260818	18/56	175	153	22	179	179	0	strelka-varscan-mutect	DNAJC13,missense_variant,p.Gln632His,ENST00000260818,NM_015268.3;DNAJC13,non_coding_transcript_exon_variant,,ENST00000486798,;	C	ENST00000260818	Transcript	missense_variant	2144/7730	1896/6732	632/2243	Q/H	caG/caC		1		1	DNAJC13	HGNC	HGNC:30343	protein_coding	YES	CCDS33857.1	ENSP00000260818	O75165		UPI000022C1FD	NM_015268.3	deleterious(0.03)		18/56		hmmpanther:PTHR36983																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	132465998	132465998	G	C	1	0	0	0	0	1	0	0	0	4446	985	34	4		4	DNAJC13	3	132465998	Missense_Mutation	SNP	G	C3N-00556_TP	8534483	132465998	65829561	107	17461											
NPHP3	0	.	GRCh38	chr3	132715098	132715098	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaccttaaggaaaagaTccatctcaggctgggtttca	11	11	8	11	0	3	1	3	0	1	1	6	2	5	2	3	3	0	2	3	3	3	2	rs149565564		C3N-00556_TP	C3N-00556_NB	T	T																c.944A>G	p.Asp315Gly	p.D315G	ENST00000337331	5/27	229	217	12	279	279	0	strelka-varscan-mutect	NPHP3,missense_variant,p.Asp315Gly,ENST00000337331,NM_153240.4;NPHP3,non_coding_transcript_exon_variant,,ENST00000476742,;NPHP3,downstream_gene_variant,,ENST00000471145,;NPHP3-ACAD11,missense_variant,p.Asp315Gly,ENST00000471702,;NPHP3,missense_variant,p.Asp217Gly,ENST00000465756,;NPHP3,3_prime_UTR_variant,,ENST00000469232,;NPHP3,non_coding_transcript_exon_variant,,ENST00000490993,;	C	ENST00000337331	Transcript	missense_variant	1031/4362	944/3993	315/1330	D/G	gAt/gGt	rs149565564	1		-1	NPHP3	HGNC	HGNC:7907	protein_coding	YES	CCDS3078.1	ENSP00000338766	Q7Z494		UPI00001B6B30	NM_153240.4	deleterious(0.03)		5/27		hmmpanther:PTHR19959:SF153,hmmpanther:PTHR19959																	MODERATE	1	SNV	1			1										PASS		rs149565564	.												C	3	2	55	132715098	132715098	T	C	1	0	0	0	0	1	0	0	0	10628	1435	50	5		5	NPHP3	3	132715098	Missense_Mutation	SNP	T	C3N-00556_TP	249100	132715098	65580461	108	17462											
TRIM42	0	.	GRCh38	chr3	140688355	140688355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtctggaggcctgtgggaGagcccagtcagccacccccg	6	5	16	14	1	2	1	1	0	1	1	2	3	2	2	5	4	2	0	5	4	0	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1673G>C	p.Arg558Thr	p.R558T	ENST00000286349	3/5	214	198	16	200	200	0	strelka-varscan-mutect	TRIM42,missense_variant,p.Arg558Thr,ENST00000286349,NM_152616.4;	C	ENST00000286349	Transcript	missense_variant	1864/2539	1673/2172	558/723	R/T	aGa/aCa		1		1	TRIM42	HGNC	HGNC:19014	protein_coding	YES	CCDS3113.1	ENSP00000286349	Q8IWZ5		UPI00001AEAE0	NM_152616.4	deleterious(0.01)		3/5																			MODERATE	1	SNV	1			1										PASS		rs1215907736	.												C	3	2	55	140688355	140688355	G	C	1	0	0	0	0	1	0	0	0	17007	942	33	4		4	TRIM42	3	140688355	Missense_Mutation	SNP	G	C3N-00556_TP	7973257	140688355	57607204	109	17463											
PXYLP1	0	.	GRCh38	chr3	141292438	141292438	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggctttctcccagattttGactggaagaagatttatttc	10	16	8	7	0	1	4	0	1	1	3	3	5	1	5	1	2	0	1	1	2	3	6	rs375469010		C3N-00556_TP	C3N-00556_NB	G	G																c.676G>C	p.Asp226His	p.D226H	ENST00000286353	6/6	216	200	16	219	219	0	strelka-varscan-mutect	PXYLP1,missense_variant,p.Asp217His,ENST00000508812,;PXYLP1,missense_variant,p.Asp226His,ENST00000286353,NM_001037172.2;PXYLP1,missense_variant,p.Asp226His,ENST00000393010,NM_152282.4;PXYLP1,missense_variant,p.Asp188His,ENST00000502783,NM_001282728.1;PXYLP1,missense_variant,p.Asp209His,ENST00000504264,;PXYLP1,downstream_gene_variant,,ENST00000512457,;RP11-438D8.2,intron_variant,,ENST00000507698,;PXYLP1,downstream_gene_variant,,ENST00000514263,;PXYLP1,3_prime_UTR_variant,,ENST00000514880,;PXYLP1,intron_variant,,ENST00000637751,;PXYLP1,intron_variant,,ENST00000636601,;PXYLP1,intron_variant,,ENST00000637579,;	C	ENST00000286353	Transcript	missense_variant	813/3281	676/1443	226/480	D/H	Gac/Cac	rs375469010	1		1	PXYLP1	HGNC	HGNC:26303	protein_coding	YES	CCDS3116.1	ENSP00000286353	Q8TE99		UPI0000048EC7	NM_001037172.2	deleterious(0)		6/6		hmmpanther:PTHR11567:SF125,hmmpanther:PTHR11567,Gene3D:3.40.50.1240,Pfam_domain:PF00328,Superfamily_domains:SSF53254																	MODERATE	1	SNV	1			1										PASS		rs375469010	.												C	3	2	55	141292438	141292438	G	C	1	0	0	0	0	1	0	0	0	13008	1290	45	4		4	PXYLP1	3	141292438	Missense_Mutation	SNP	G	C3N-00556_TP	604083	141292438	57003121	110	17464											
IGSF10	0	.	GRCh38	chr3	151444944	151444944	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggactctggtccaatgaatGgtgggcaggggatttccaac	9	9	15	8	0	1	1	0	1	1	0	3	3	3	3	2	6	1	1	2	6	3	1	rs146833534		C3N-00556_TP	C3N-00556_NB	G	G																c.5037C>A	p.=	p.T1679T	ENST00000282466	4/6	79	63	16	107	107	0	strelka-varscan-mutect	IGSF10,synonymous_variant,p.=,ENST00000282466,NM_178822.4;IGSF10,upstream_gene_variant,,ENST00000489791,;IGSF10,upstream_gene_variant,,ENST00000495443,;IGSF10,upstream_gene_variant,,ENST00000493841,;	T	ENST00000282466	Transcript	synonymous_variant	5037/11067	5037/7872	1679/2623	T	acC/acA	rs146833534	1		-1	IGSF10	HGNC	HGNC:26384	protein_coding	YES	CCDS3160.1	ENSP00000282466	Q6WRI0		UPI00001D629A	NM_178822.4			4/6		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs146833534	.												T	2	4	55	151444944	151444944	G	T	1	0	0	0	0	0	0	0	1	7504	1335	47	2		2	IGSF10	3	151444944	Silent	SNP	G	C3N-00556_TP	10152506	151444944	46850615	111	17465											
MBNL1	0	.	GRCh38	chr3	152300213	152300213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctgttagtgtcacacCaattcgggacacaaaatggc	12	9	10	10	1	1	0	1	0	0	0	2	1	1	1	1	3	0	2	1	3	4	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.20C>G	p.Pro7Arg	p.P7R	ENST00000282486	2/10	101	95	6	87	87	0	strelka-varscan-mutect	MBNL1,missense_variant,p.Pro7Arg,ENST00000282488,;MBNL1,missense_variant,p.Pro7Arg,ENST00000282486,;MBNL1,missense_variant,p.Pro7Arg,ENST00000355460,NM_207292.1;MBNL1,missense_variant,p.Pro7Arg,ENST00000324210,NM_021038.3;MBNL1,missense_variant,p.Pro7Arg,ENST00000498502,;MBNL1,missense_variant,p.Pro7Arg,ENST00000357472,NM_207297.1;MBNL1,missense_variant,p.Pro7Arg,ENST00000324196,NM_207296.1;MBNL1,missense_variant,p.Pro7Arg,ENST00000545754,NM_207295.1;MBNL1,missense_variant,p.Pro7Arg,ENST00000463374,NM_207293.1;MBNL1,missense_variant,p.Pro7Arg,ENST00000485910,NM_207294.1;MBNL1,missense_variant,p.Pro7Arg,ENST00000492948,;MBNL1,missense_variant,p.Pro7Arg,ENST00000485509,;MBNL1,missense_variant,p.Pro6Arg,ENST00000464596,;MBNL1,missense_variant,p.Pro7Arg,ENST00000465907,;MBNL1,intron_variant,,ENST00000493459,;MBNL1,intron_variant,,ENST00000460591,;MBNL1,intron_variant,,ENST00000459747,;MBNL1,intron_variant,,ENST00000495875,;MBNL1,non_coding_transcript_exon_variant,,ENST00000461436,;MBNL1,non_coding_transcript_exon_variant,,ENST00000466565,;MBNL1,downstream_gene_variant,,ENST00000477171,;	G	ENST00000282486	Transcript	missense_variant	1862/6422	20/1167	7/388	P/R	cCa/cGa		1		1	MBNL1	HGNC	HGNC:6923	protein_coding	YES	CCDS3165.1	ENSP00000282486	Q9NR56		UPI000003B440		tolerated(0.38)		2/10		hmmpanther:PTHR12675:SF7,hmmpanther:PTHR12675																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	55	152300213	152300213	C	G	1	0	0	0	0	1	0	0	0	9285	594	21	4		4	MBNL1	3	152300213	Missense_Mutation	SNP	C	C3N-00556_TP	855269	152300213	45995346	112	17466											
RAP2B	0	.	GRCh38	chr3	153162698	153162698	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcgctgacggagccatgaGagagtacaaagtggtggtgc	11	6	17	7	2	0	3	0	2	0	1	0	6	0	4	1	3	4	2	1	3	2	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.5G>C	p.Arg2Thr	p.R2T	ENST00000323534	1/1	69	63	6	77	77	0	strelka-varscan-mutect	RAP2B,missense_variant,p.Arg2Thr,ENST00000323534,NM_002886.3;RP11-529G21.2,upstream_gene_variant,,ENST00000487827,;	C	ENST00000323534	Transcript	missense_variant	429/8351	5/552	2/183	R/T	aGa/aCa		1		1	RAP2B	HGNC	HGNC:9862	protein_coding	YES	CCDS3170.1	ENSP00000319096	P61225		UPI0000004042	NM_002886.3	tolerated(0.06)		1/1		PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF194,hmmpanther:PTHR24070,TIGRFAM_domain:TIGR00231,SMART_domains:SM00173,Superfamily_domains:SSF52540																	MODERATE		SNV				1										PASS		.	.												C	3	2	55	153162698	153162698	G	C	1	0	0	0	0	1	0	0	0	13200	942	33	4		4	RAP2B	3	153162698	Missense_Mutation	SNP	G	C3N-00556_TP	862485	153162698	45132861	113	17467											
VEPH1	0	.	GRCh38	chr3	157317073	157317073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatacaaacctgctgaaataGaaacatgatctggatccatg	16	10	7	8	0	1	3	0	2	1	1	2	4	2	4	2	1	4	1	2	1	6	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1864C>G	p.Leu622Val	p.L622V	ENST00000362010	10/14	164	152	12	167	167	0	strelka-varscan-mutect	VEPH1,missense_variant,p.Leu622Val,ENST00000362010,NM_001167912.1;VEPH1,missense_variant,p.Leu622Val,ENST00000392833,NM_001167911.1;VEPH1,missense_variant,p.Leu622Val,ENST00000392832,NM_024621.2;RP11-550I24.2,intron_variant,,ENST00000487238,;RP11-550I24.2,downstream_gene_variant,,ENST00000494885,;RP11-550I24.2,downstream_gene_variant,,ENST00000475102,;	C	ENST00000362010	Transcript	missense_variant	2172/4202	1864/2502	622/833	L/V	Cta/Gta		1		-1	VEPH1	HGNC	HGNC:25735	protein_coding	YES	CCDS3179.1	ENSP00000354919	Q14D04		UPI000013F6EE	NM_001167912.1	deleterious(0)		10/14		hmmpanther:PTHR21630																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	157317073	157317073	G	C	1	0	0	0	0	1	0	0	0	17700	933	33	4		4	VEPH1	3	157317073	Missense_Mutation	SNP	G	C3N-00556_TP	4154375	157317073	40978486	114	17468											
IQCJ	0	.	GRCh38	chr3	159262589	159262589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacctgcagcggcaggagcCcctggggaagaggagcccgt	8	4	17	12	2	0	1	0	0	0	1	0	4	0	4	4	5	5	3	4	5	2	1			C3N-00556_TP	C3N-00556_NB	C	C																c.116C>A	p.Pro39His	p.P39H	ENST00000476809	3/10	148	107	41	128	128	0	strelka-varscan-mutect	IQCJ-SCHIP1,missense_variant,p.Pro66His,ENST00000485419,NM_001197113.1;IQCJ-SCHIP1,missense_variant,p.Pro39His,ENST00000476809,NM_001197114.1;IQCJ,missense_variant,p.Pro66His,ENST00000397832,NM_001042706.2;IQCJ,missense_variant,p.Pro39His,ENST00000482126,NM_001197100.1;IQCJ,missense_variant,p.Pro66His,ENST00000451172,NM_001042705.2;IQCJ,non_coding_transcript_exon_variant,,ENST00000481796,;	A	ENST00000476809	Transcript	missense_variant	116/1611	116/1611	39/536	P/H	cCc/cAc	COSM4475308,COSM4475309,COSM4475310	1		1	IQCJ-SCHIP1	HGNC	HGNC:38842	protein_coding	YES	CCDS56291.1	ENSP00000418692			UPI00016277EB	NM_001197114.1	tolerated_low_confidence(0.45)		3/10		Pfam_domain:PF15157											1,1,1						MODERATE		SNV	5		1,1,1	1										PASS		.	.												A	3	1	55	159262589	159262589	C	A	1	0	0	0	0	1	0	0	0	7718	623	22	2		2	IQCJ	3	159262589	Missense_Mutation	SNP	C	C3N-00556_TP	1945516	159262589	39032970	115	17469											
SI	0	.	GRCh38	chr3	165006951	165006951	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatcagttctttttgtgAgttctggaaagaatcaatga	12	15	8	6	0	4	3	2	2	2	1	5	4	5	4	1	1	0	2	1	1	3	4	novel		C3N-00556_TP	C3N-00556_NB	A	A																c.4271T>C	p.Leu1424Pro	p.L1424P	ENST00000264382	37/48	208	174	34	244	244	0	strelka-varscan-mutect	SI,missense_variant,p.Leu1424Pro,ENST00000264382,NM_001041.3;	G	ENST00000264382	Transcript	missense_variant	4334/6011	4271/5484	1424/1827	L/P	cTc/cCc		1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	deleterious(0)		37/48		Pfam_domain:PF01055																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	165006951	165006951	A	G	1	0	0	0	0	1	0	0	0	14561	318	11	5		5	SI	3	165006951	Missense_Mutation	SNP	A	C3N-00556_TP	5744362	165006951	33288608	116	17470											
IL1RAP	0	.	GRCh38	chr3	190627322	190627322	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttttggttttttttttcaGgagaggagctactcattccc	6	20	8	7	0	2	1	2	0	0	1	3	3	3	2	1	3	2	2	1	3	1	10	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.776-1G>T		p.X259_splice	ENST00000317757		76	63	13	79	79	0	strelka-varscan-mutect	IL1RAP,splice_acceptor_variant,,ENST00000317757,NM_001167931.1;IL1RAP,splice_acceptor_variant,,ENST00000412504,;IL1RAP,splice_acceptor_variant,,ENST00000447382,NM_002182.3;IL1RAP,splice_acceptor_variant,,ENST00000072516,NM_001167929.1;IL1RAP,splice_acceptor_variant,,ENST00000443369,;IL1RAP,splice_acceptor_variant,,ENST00000439062,NM_001167928.1;IL1RAP,splice_acceptor_variant,,ENST00000422485,NM_134470.3;IL1RAP,splice_acceptor_variant,,ENST00000422940,NM_001167930.1;IL1RAP,splice_acceptor_variant,,ENST00000434491,;IL1RAP,splice_acceptor_variant,,ENST00000412080,;IL1RAP,splice_acceptor_variant,,ENST00000413869,;IL1RAP,splice_acceptor_variant,,ENST00000342550,;GCNT1P3,downstream_gene_variant,,ENST00000450607,;	T	ENST00000317757	Transcript	splice_acceptor_variant	-/5413	776/2064	259/687				1		1	IL1RAP	HGNC	HGNC:5995	protein_coding	YES	CCDS54696.1	ENSP00000314807	Q9NPH3		UPI000020A9C1	NM_001167931.1				7/11																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	55	190627322	190627322	G	T	1	0	0	0	0	0	0	1	0	7563	1014	35	2		2	IL1RAP	3	190627322	Splice_Site	SNP	G	C3N-00556_TP	25620371	190627322	7668237	117	17471											
MB21D2	0	.	GRCh38	chr3	192798721	192798721	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttccagcatgttgcactGagggatgaaataattggggc	11	11	13	6	0	0	2	0	2	0	0	1	3	1	3	1	3	2	4	1	3	2	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1141C>T	p.Gln381Ter	p.Q381*	ENST00000392452	2/2	229	216	13	241	241	0	strelka-varscan-mutect	MB21D2,stop_gained,p.Gln381Ter,ENST00000392452,NM_178496.3;	A	ENST00000392452	Transcript	stop_gained	1462/3368	1141/1476	381/491	Q/*	Cag/Tag		1		-1	MB21D2	HGNC	HGNC:30438	protein_coding	YES	CCDS3302.2	ENSP00000376246	Q8IYB1		UPI000013FAFE	NM_178496.3			2/2		hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF47,Pfam_domain:PF03281,SMART_domains:SM01265																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	55	192798721	192798721	G	A	1	0	0	0	0	0	1	0	0	9270	1299	45	3		3	MB21D2	3	192798721	Nonsense_Mutation	SNP	G	C3N-00556_TP	2171399	192798721	5496838	118	17472											
MB21D2	0	.	GRCh38	chr3	192798931	192798931	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgatggctttgcaggcctGataggcctgcatgaggctgc	7	10	15	9	0	0	3	0	3	0	0	0	4	0	3	2	4	3	4	2	4	1	2			C3N-00556_TP	C3N-00556_NB	G	G																c.931C>T	p.Gln311Ter	p.Q311*	ENST00000392452	2/2	130	109	21	155	155	0	strelka-varscan-mutect	MB21D2,stop_gained,p.Gln311Ter,ENST00000392452,NM_178496.3;	A	ENST00000392452	Transcript	stop_gained	1252/3368	931/1476	311/491	Q/*	Cag/Tag	COSM348040,COSM350832	1		-1	MB21D2	HGNC	HGNC:30438	protein_coding	YES	CCDS3302.2	ENSP00000376246	Q8IYB1		UPI000013FAFE	NM_178496.3			2/2		hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF47,Pfam_domain:PF03281,SMART_domains:SM01265											1,1						HIGH	1	SNV	1		1,1	1										PASS		rs988241015	.												A	4	1	55	192798931	192798931	G	A	1	0	0	0	0	0	1	0	0	9270	1299	45	3		3	MB21D2	3	192798931	Nonsense_Mutation	SNP	G	C3N-00556_TP	210	192798931	5496628	119	17473											
MUC4	0	.	GRCh38	chr3	195779684	195779684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacaggaagagaggtggCgtgacctgtggatactgagg	10	7	19	5	1	0	4	0	3	0	1	0	7	0	6	1	6	1	0	1	6	2	1	rs368695884		C3N-00556_TP	C3N-00556_NB	C	C																c.11896G>A	p.Ala3966Thr	p.A3966T	ENST00000463781	2/25	124	116	8	118	117	1	varscan-mutect	MUC4,missense_variant,p.Ala3966Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala3966Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala3966Thr,ENST00000478156,;MUC4,missense_variant,p.Ala3966Thr,ENST00000466475,;MUC4,missense_variant,p.Ala3966Thr,ENST00000477756,;MUC4,missense_variant,p.Ala3966Thr,ENST00000477086,;MUC4,missense_variant,p.Ala3966Thr,ENST00000480843,;MUC4,missense_variant,p.Ala3966Thr,ENST00000462323,;MUC4,missense_variant,p.Ala3966Thr,ENST00000470451,;MUC4,missense_variant,p.Ala3966Thr,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	T	ENST00000463781	Transcript	missense_variant	12356/17110	11896/16239	3966/5412	A/T	Gcc/Acc	rs368695884,COSM479899	1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	tolerated_low_confidence(0.16)		2/25													0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs368695884	.												T	3	4	55	195779684	195779684	C	T	1	0	0	0	0	1	0	0	0	9977	768	27	1		1	MUC4	3	195779684	Missense_Mutation	SNP	C	C3N-00556_TP	2980753	195779684	2515875	120	17474											
OTOP1	0	.	GRCh38	chr4	4197635	4197635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccaggagataagccaggagCccgaggcagtgcccaccaag	12	2	13	14	1	0	1	0	0	0	1	0	4	0	2	5	3	3	1	5	3	2	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1199G>A	p.Gly400Asp	p.G400D	ENST00000296358	5/6	206	195	11	232	231	1	varscan-mutect	OTOP1,missense_variant,p.Gly400Asp,ENST00000296358,NM_177998.1;	T	ENST00000296358	Transcript	missense_variant	1224/1864	1199/1839	400/612	G/D	gGc/gAc		1		-1	OTOP1	HGNC	HGNC:19656	protein_coding	YES	CCDS3372.1	ENSP00000296358	Q7RTM1		UPI0000186945	NM_177998.1	deleterious(0)		5/6		Pfam_domain:PF03189,hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	4197635	4197635	C	T	1	0	0	0	0	1	0	0	0	11373	739	26	3		3	OTOP1	4	4197635	Missense_Mutation	SNP	C	C3N-00556_TP		4197635	186016920	121	17475											
EVC2	0	.	GRCh38	chr4	5640615	5640615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgtttccaggtcacattCagctgtcaatgccaccatct	8	14	6	13	0	5	0	3	0	2	0	6	0	6	0	3	1	2	2	3	1	1	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1369G>A	p.Glu457Lys	p.E457K	ENST00000344408	10/22	279	262	17	314	314	0	strelka-varscan-mutect	EVC2,missense_variant,p.Glu377Lys,ENST00000310917,NM_001166136.1;EVC2,missense_variant,p.Glu457Lys,ENST00000344408,NM_147127.4;EVC2,missense_variant,p.Glu377Lys,ENST00000475313,;EVC2,missense_variant,p.Glu377Lys,ENST00000509670,;	T	ENST00000344408	Transcript	missense_variant	1423/4390	1369/3927	457/1308	E/K	Gaa/Aaa		1		-1	EVC2	HGNC	HGNC:19747	protein_coding	YES	CCDS3382.2	ENSP00000342144	Q86UK5		UPI00001910B5	NM_147127.4	deleterious(0)		10/22		Pfam_domain:PF12297,hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	5640615	5640615	C	T	1	0	0	0	0	1	0	0	0	5153	835	29	3		3	EVC2	4	5640615	Missense_Mutation	SNP	C	C3N-00556_TP	1442980	5640615	184573940	122	17476											
LIMCH1	0	.	GRCh38	chr4	41360901	41360901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagcccgagccgccccccGagcccgccttctccgaggcg	4	4	12	21	6	1	0	0	0	1	0	2	3	1	0	8	1	4	1	8	1	0	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.61G>A	p.Glu21Lys	p.E21K	ENST00000313860	1/27	212	186	26	144	144	0	strelka-varscan	LIMCH1,missense_variant,p.Glu21Lys,ENST00000313860,NM_014988.3;LIMCH1,missense_variant,p.Glu21Lys,ENST00000512820,NM_001289122.1;LIMCH1,missense_variant,p.Glu21Lys,ENST00000512946,NM_001112717.2;LIMCH1,missense_variant,p.Glu21Lys,ENST00000508501,NM_001112718.2;LIMCH1,missense_variant,p.Glu21Lys,ENST00000512632,;LIMCH1,5_prime_UTR_variant,,ENST00000509638,;LIMCH1,intron_variant,,ENST00000513024,NM_001289124.1;LIMCH1,non_coding_transcript_exon_variant,,ENST00000514190,;LIMCH1,non_coding_transcript_exon_variant,,ENST00000512228,;	A	ENST00000313860	Transcript	missense_variant	115/6165	61/3252	21/1083	E/K	Gag/Aag		1		1	LIMCH1	HGNC	HGNC:29191	protein_coding	YES	CCDS33977.1	ENSP00000316891	Q9UPQ0		UPI0000D61554	NM_014988.3	deleterious(0)		1/27		Low_complexity_(Seg):seg,PROSITE_profiles:PS50021,hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	41360901	41360901	G	A	1	0	0	0	0	1	0	0	0	8705	1059	37	1		1	LIMCH1	4	41360901	Missense_Mutation	SNP	G	C3N-00556_TP	35720286	41360901	148853654	123	17477											
TXK	0	.	GRCh38	chr4	48095146	48095146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatcacaagtgcttaccttCtagctcccataaatacggaa	15	10	5	11	1	2	0	1	0	1	0	3	1	3	1	2	1	4	2	2	1	8	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.578G>A	p.Arg193Lys	p.R193K	ENST00000264316	7/15	279	262	17	293	293	0	strelka-varscan	TXK,missense_variant,p.Arg193Lys,ENST00000264316,NM_003328.2;TXK,non_coding_transcript_exon_variant,,ENST00000510457,;	T	ENST00000264316	Transcript	missense_variant	664/2914	578/1584	193/527	R/K	aGa/aAa		1		-1	TXK	HGNC	HGNC:12434	protein_coding	YES	CCDS3480.1	ENSP00000264316	P42681		UPI000013D4F9	NM_003328.2	tolerated(0.94)		7/15		Gene3D:3.30.505.10,Pfam_domain:PF00017,PROSITE_profiles:PS50001,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF247,SMART_domains:SM00252,Superfamily_domains:SSF55550																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	48095146	48095146	C	T	1	0	0	0	0	1	0	0	0	17302	927	32	3		3	TXK	4	48095146	Missense_Mutation	SNP	C	C3N-00556_TP	6734245	48095146	142119409	124	17478											
TMPRSS11A	0	.	GRCh38	chr4	67929987	67929987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgccctttgttcagtaGaggggaactggaacaccata	11	11	10	9	0	1	1	1	0	0	1	1	3	1	3	2	3	4	2	2	3	5	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.383C>A	p.Ser128Tyr	p.S128Y	ENST00000334830	5/10	111	83	28	143	143	0	strelka-varscan	TMPRSS11A,missense_variant,p.Ser125Tyr,ENST00000508048,NM_001114387.1;TMPRSS11A,missense_variant,p.Ser128Tyr,ENST00000334830,NM_182606.3;TMPRSS11A,missense_variant,p.Ser105Tyr,ENST00000513536,;UBA6-AS1,intron_variant,,ENST00000500538,;	T	ENST00000334830	Transcript	missense_variant	1130/3054	383/1266	128/421	S/Y	tCt/tAt		1		-1	TMPRSS11A	HGNC	HGNC:27954	protein_coding	YES	CCDS3519.1	ENSP00000334611		A0A0A0MR82	UPI0000457217	NM_182606.3	deleterious(0.04)		5/10		PROSITE_profiles:PS50024,Pfam_domain:PF01390,PIRSF_domain:PIRSF037941,Gene3D:1ivzA00,Superfamily_domains:0047452																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	55	67929987	67929987	G	T	1	0	0	0	0	1	0	0	0	16715	942	33	2		2	TMPRSS11A	4	67929987	Missense_Mutation	SNP	G	C3N-00556_TP	19834841	67929987	122284568	125	17479											
ANKRD17	0	.	GRCh38	chr4	73118823	73118823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaatggagtgttccccttCttgttacgtacatcaatatg	10	14	7	10	1	2	0	1	0	1	0	3	1	3	1	2	1	2	3	2	1	5	6	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.4053G>A	p.=	p.K1351K	ENST00000358602	22/34	139	127	12	164	163	1	strelka-varscan	ANKRD17,synonymous_variant,p.=,ENST00000358602,NM_015574.1,NM_032217.3;ANKRD17,synonymous_variant,p.=,ENST00000558247,;ANKRD17,synonymous_variant,p.=,ENST00000509867,NM_001286771.1;ANKRD17,synonymous_variant,p.=,ENST00000330838,NM_198889.1;ANKRD17,synonymous_variant,p.=,ENST00000561029,;ANKRD17,non_coding_transcript_exon_variant,,ENST00000514252,;	T	ENST00000358602	Transcript	synonymous_variant	4170/10784	4053/7812	1351/2603	K	aaG/aaA		1		-1	ANKRD17	HGNC	HGNC:23575	protein_coding	YES	CCDS34004.1	ENSP00000351416	O75179		UPI00002263B0	NM_015574.1,NM_032217.3			22/34		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR23206,hmmpanther:PTHR23206:SF1,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	55	73118823	73118823	C	T	1	0	0	0	0	0	0	0	1	747	912	32	3		3	ANKRD17	4	73118823	Silent	SNP	C	C3N-00556_TP	5188836	73118823	117095732	126	17480											
SHROOM3	0	.	GRCh38	chr4	76740756	76740756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagaggcttcccggcaGccctgcggtcagcagctgag	7	7	15	12	2	1	2	1	1	0	1	2	3	2	3	2	4	4	4	2	4	1	2	rs747838287		C3N-00556_TP	C3N-00556_NB	G	G																c.2583G>T	p.Gln861His	p.Q861H	ENST00000296043	5/11	124	108	16	123	122	1	strelka-varscan	SHROOM3,missense_variant,p.Gln861His,ENST00000296043,NM_020859.3;SHROOM3,intron_variant,,ENST00000469923,;SHROOM3,downstream_gene_variant,,ENST00000473602,;SHROOM3,downstream_gene_variant,,ENST00000481002,;SHROOM3,non_coding_transcript_exon_variant,,ENST00000486758,;	T	ENST00000296043	Transcript	missense_variant	3536/11020	2583/5991	861/1996	Q/H	caG/caT	rs747838287	1		1	SHROOM3	HGNC	HGNC:30422	protein_coding	YES	CCDS3579.2	ENSP00000296043	Q8TF72		UPI0000E5AC1C	NM_020859.3	tolerated(0.25)		5/11																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	76740756	76740756	G	T	1	0	0	0	0	1	0	0	0	14558	962	34	2		2	SHROOM3	4	76740756	Missense_Mutation	SNP	G	C3N-00556_TP	3621933	76740756	113473799	127	17481											
SEPT11	0	.	GRCh38	chr4	77011772	77011772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatatattgatgcccagttcGaggcctacctgcaagaggaa	13	9	10	9	1	0	2	0	1	0	1	1	4	0	3	3	2	3	2	3	2	6	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.406G>A	p.Glu136Lys	p.E136K	ENST00000510515	6/12	146	134	12	181	181	0	strelka-varscan	SEPT11,missense_variant,p.Glu126Lys,ENST00000264893,NM_018243.2;SEPT11,missense_variant,p.Glu126Lys,ENST00000502584,;SEPT11,missense_variant,p.Glu126Lys,ENST00000505788,;SEPT11,missense_variant,p.Glu136Lys,ENST00000510515,NM_001306147.1;SEPT11,missense_variant,p.Glu118Lys,ENST00000510641,;SEPT11,missense_variant,p.Glu136Lys,ENST00000512778,;SEPT11,downstream_gene_variant,,ENST00000504637,;SEPT11,non_coding_transcript_exon_variant,,ENST00000512333,;SEPT11,non_coding_transcript_exon_variant,,ENST00000504460,;SEPT11,intron_variant,,ENST00000512575,;SEPT11,upstream_gene_variant,,ENST00000506047,;	A	ENST00000510515	Transcript	missense_variant	663/1886	406/1320	136/439	E/K	Gag/Aag		1		1	SEPT11	HGNC	HGNC:25589	protein_coding	YES	CCDS77931.1	ENSP00000422896	Q9NVA2		UPI000191506E	NM_001306147.1	deleterious(0.01)		6/12		PROSITE_profiles:PS51719,hmmpanther:PTHR18884:SF48,hmmpanther:PTHR18884,PIRSF_domain:PIRSF006698,Pfam_domain:PF00735,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	55	77011772	77011772	G	A	1	0	0	0	0	1	0	0	0	14337	1059	37	1		1	SEPT11	4	77011772	Missense_Mutation	SNP	G	C3N-00556_TP	271016	77011772	113202783	128	17482											
PRDM8	0	.	GRCh38	chr4	80203151	80203151	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttgcgggtccctgccGagcggcggcggcggcctgcc	2	5	20	14	6	0	0	0	0	0	0	1	2	1	1	4	7	4	1	4	7	0	1	rs766188088		C3N-00556_TP	C3N-00556_NB	G	G																c.1689G>T	p.=	p.P563P	ENST00000339711	10/10	421	398	23	373	373	0	strelka-varscan	PRDM8,synonymous_variant,p.=,ENST00000339711,NM_020226.3;PRDM8,synonymous_variant,p.=,ENST00000504452,;PRDM8,synonymous_variant,p.=,ENST00000415738,NM_001099403.1;PRDM8,downstream_gene_variant,,ENST00000515013,;	T	ENST00000339711	Transcript	synonymous_variant	2920/4095	1689/2070	563/689	P	ccG/ccT	rs766188088	1		1	PRDM8	HGNC	HGNC:13993	protein_coding	YES	CCDS43243.1	ENSP00000339764	Q9NQV8	A0A024RDC4	UPI0000422A1D	NM_020226.3			10/10		hmmpanther:PTHR16516,hmmpanther:PTHR16516:SF7,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	80203151	80203151	G	T	1	0	0	0	0	0	0	0	1	12594	1045	37	1		1	PRDM8	4	80203151	Silent	SNP	G	C3N-00556_TP	3191379	80203151	110011404	129	17483											
AFF1	0	.	GRCh38	chr4	87046273	87046273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgaaaagattcccctttttgGagagccctacaaggtattta	12	13	8	8	0	0	3	0	1	0	2	1	4	1	3	3	2	2	1	3	2	6	7	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.146G>C	p.Gly49Ala	p.G49A	ENST00000395146	3/21	122	110	12	97	97	0	strelka-varscan	AFF1,missense_variant,p.Gly42Ala,ENST00000307808,NM_001313959.1,NM_005935.2;AFF1,missense_variant,p.Gly49Ala,ENST00000395146,NM_001166693.1;AFF1,missense_variant,p.Gly42Ala,ENST00000544085,;AFF1,missense_variant,p.Gly49Ala,ENST00000507468,;AFF1,missense_variant,p.Gly49Ala,ENST00000503477,;AFF1,5_prime_UTR_variant,,ENST00000511442,;AFF1,intron_variant,,ENST00000511722,;AFF1,upstream_gene_variant,,ENST00000514970,;AFF1,intron_variant,,ENST00000504956,;	C	ENST00000395146	Transcript	missense_variant	421/9285	146/3657	49/1218	G/A	gGa/gCa		1		1	AFF1	HGNC	HGNC:7135	protein_coding	YES	CCDS54775.1	ENSP00000378578	P51825		UPI000013EC52	NM_001166693.1	tolerated(0.76)		3/21		Pfam_domain:PF05110,hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF6																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	55	87046273	87046273	G	C	1	0	0	0	0	1	0	0	0	433	1174	41	4		4	AFF1	4	87046273	Missense_Mutation	SNP	G	C3N-00556_TP	6843122	87046273	103168282	130	17484											
SPP1	0	.	GRCh38	chr4	87981538	87981538	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatggatgatgaagatgatGatgaccatgtggacagccag	14	9	13	5	0	0	6	0	5	0	1	0	8	0	8	2	2	1	0	2	2	2	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.280G>C	p.Asp94His	p.D94H	ENST00000395080	6/7	228	203	25	277	277	0	strelka-varscan	SPP1,missense_variant,p.Asp80His,ENST00000237623,NM_000582.2;SPP1,missense_variant,p.Asp94His,ENST00000395080,NM_001040058.1;SPP1,missense_variant,p.Asp67His,ENST00000360804,NM_001040060.1;SPP1,missense_variant,p.Asp53His,ENST00000508233,NM_001251829.1;SPP1,splice_region_variant,,ENST00000614857,NM_001251830.1;SPP1,non_coding_transcript_exon_variant,,ENST00000509659,;SPP1,non_coding_transcript_exon_variant,,ENST00000509334,;SPP1,non_coding_transcript_exon_variant,,ENST00000513981,;SPP1,downstream_gene_variant,,ENST00000508002,;SPP1,downstream_gene_variant,,ENST00000504310,;SPP1,downstream_gene_variant,,ENST00000505146,;	C	ENST00000395080	Transcript	missense_variant	407/1473	280/945	94/314	D/H	Gat/Cat		1		1	SPP1	HGNC	HGNC:11255	protein_coding	YES	CCDS43250.1	ENSP00000378517	P10451	A0A024RDE2	UPI0000000E0B	NM_001040058.1	deleterious(0.04)		6/7		Low_complexity_(Seg):seg,hmmpanther:PTHR10607:SF1,hmmpanther:PTHR10607,Pfam_domain:PF00865,SMART_domains:SM00017																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	87981538	87981538	G	C	1	0	0	0	0	1	0	0	0	15439	1304	45	4		4	SPP1	4	87981538	Missense_Mutation	SNP	G	C3N-00556_TP	935265	87981538	102233017	131	17485											
SPP1	0	.	GRCh38	chr4	87981785	87981785	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatctaagaagtttcgcaGacctgacatccaggtaaatc	16	9	7	9	1	1	3	0	1	1	2	4	3	2	3	2	1	0	3	2	1	6	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.527G>C	p.Arg176Thr	p.R176T	ENST00000395080	6/7	111	98	13	137	137	0	strelka-varscan	SPP1,missense_variant,p.Arg162Thr,ENST00000237623,NM_000582.2;SPP1,missense_variant,p.Arg154Thr,ENST00000614857,NM_001251830.1;SPP1,missense_variant,p.Arg176Thr,ENST00000395080,NM_001040058.1;SPP1,missense_variant,p.Arg149Thr,ENST00000360804,NM_001040060.1;SPP1,missense_variant,p.Arg135Thr,ENST00000508233,NM_001251829.1;SPP1,non_coding_transcript_exon_variant,,ENST00000509659,;SPP1,downstream_gene_variant,,ENST00000509334,;SPP1,downstream_gene_variant,,ENST00000513981,;SPP1,downstream_gene_variant,,ENST00000508002,;SPP1,downstream_gene_variant,,ENST00000504310,;SPP1,downstream_gene_variant,,ENST00000505146,;	C	ENST00000395080	Transcript	missense_variant	654/1473	527/945	176/314	R/T	aGa/aCa		1		1	SPP1	HGNC	HGNC:11255	protein_coding	YES	CCDS43250.1	ENSP00000378517	P10451	A0A024RDE2	UPI0000000E0B	NM_001040058.1	tolerated(0.69)		6/7		hmmpanther:PTHR10607:SF1,hmmpanther:PTHR10607,Pfam_domain:PF00865,SMART_domains:SM00017																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	87981785	87981785	G	C	1	0	0	0	0	1	0	0	0	15439	942	33	4		4	SPP1	4	87981785	Missense_Mutation	SNP	G	C3N-00556_TP	247	87981785	102232770	132	17486											
GRID2	0	.	GRCh38	chr4	93769451	93769451	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccgggttccatcaaaagagGtacttgattgagagatttgg	11	11	12	7	1	1	4	1	2	0	2	2	5	2	4	2	3	1	2	2	3	3	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2601+1G>C		p.X867_splice	ENST00000282020		137	123	14	159	159	0	strelka-varscan	GRID2,splice_donor_variant,,ENST00000282020,NM_001510.3;GRID2,splice_donor_variant,,ENST00000611049,;GRID2,splice_donor_variant,,ENST00000637838,;GRID2,splice_donor_variant,,ENST00000510992,NM_001286838.1;	C	ENST00000282020	Transcript	splice_donor_variant	-/6117	2601/3024	867/1007				1		1	GRID2	HGNC	HGNC:4576	protein_coding	YES	CCDS3637.1	ENSP00000282020	O43424		UPI00001AEA78	NM_001510.3				15/15																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	55	93769451	93769451	G	C	1	0	0	0	0	0	0	1	0	6652	1275	44	4		4	GRID2	4	93769451	Splice_Site	SNP	G	C3N-00556_TP	5787666	93769451	96445104	133	17487											
DNAJB14	0	.	GRCh38	chr4	99946461	99946461	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggccgagggcagtgggtaGagcttctcggccttctgcag	5	8	17	11	3	2	1	0	0	2	1	3	2	2	1	2	4	2	4	2	4	1	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.111C>G	p.=	p.L37L	ENST00000442697	1/8	489	464	25	402	402	0	strelka-varscan	DNAJB14,synonymous_variant,p.=,ENST00000442697,NM_001031723.3,NM_001278310.1;DNAJB14,synonymous_variant,p.=,ENST00000610281,NM_001278311.1;H2AFZ,downstream_gene_variant,,ENST00000296417,NM_002106.3;RP11-15B17.1,upstream_gene_variant,,ENST00000507494,;RP11-15B17.1,upstream_gene_variant,,ENST00000514624,;RP11-15B17.1,upstream_gene_variant,,ENST00000501976,;DNAJB14,non_coding_transcript_exon_variant,,ENST00000471738,;H2AFZ,downstream_gene_variant,,ENST00000529158,;RP11-15B17.4,upstream_gene_variant,,ENST00000623099,;DNAJB14,synonymous_variant,p.=,ENST00000334223,;DNAJB14,synonymous_variant,p.=,ENST00000398991,;DNAJB14,synonymous_variant,p.=,ENST00000426476,;DNAJB14,non_coding_transcript_exon_variant,,ENST00000469942,;DNAJB14,non_coding_transcript_exon_variant,,ENST00000474664,;H2AFZ,downstream_gene_variant,,ENST00000511203,;H2AFZ,downstream_gene_variant,,ENST00000511348,;H2AFZ,downstream_gene_variant,,ENST00000511319,;H2AFZ,downstream_gene_variant,,ENST00000527366,;	C	ENST00000442697	Transcript	synonymous_variant	266/6075	111/1140	37/379	L	ctC/ctG		1		-1	DNAJB14	HGNC	HGNC:25881	protein_coding	YES	CCDS34035.1	ENSP00000404381	Q8TBM8		UPI0000072A32	NM_001031723.3,NM_001278310.1			1/8																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	55	99946461	99946461	G	C	1	0	0	0	0	0	0	0	1	4434	929	33	4		4	DNAJB14	4	99946461	Silent	SNP	G	C3N-00556_TP	6177010	99946461	90268094	134	17488											
DDIT4L	0	.	GRCh38	chr4	100187774	100187774	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagagttctcctgaaaccaGaggagaagcgacctctacta	13	8	9	11	1	3	4	1	1	2	3	4	6	3	4	3	1	3	1	3	1	4	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.485C>G	p.Ser162Cys	p.S162C	ENST00000273990	3/3	228	206	22	227	227	0	strelka-varscan	DDIT4L,missense_variant,p.Ser162Cys,ENST00000273990,NM_145244.3;DDIT4L,missense_variant,p.Ser162Cys,ENST00000502763,;DDIT4L,downstream_gene_variant,,ENST00000513992,;RP11-15B17.1,intron_variant,,ENST00000515026,;RP11-588P8.1,upstream_gene_variant,,ENST00000515782,;	C	ENST00000273990	Transcript	missense_variant	700/2604	485/582	162/193	S/C	tCt/tGt		1		-1	DDIT4L	HGNC	HGNC:30555	protein_coding	YES	CCDS34036.1	ENSP00000354830	Q96D03		UPI000004919B	NM_145244.3	deleterious(0)		3/3		Pfam_domain:PF07809,hmmpanther:PTHR12478,hmmpanther:PTHR12478:SF17,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	100187774	100187774	G	C	1	0	0	0	0	1	0	0	0	4136	942	33	4		4	DDIT4L	4	100187774	Missense_Mutation	SNP	G	C3N-00556_TP	241313	100187774	90026781	135	17489											
CXXC4	0	.	GRCh38	chr4	104490974	104490974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgcgggcagtctgccaGattggcaatttgaaacgcac	10	10	11	10	2	2	2	0	1	2	1	2	2	2	2	1	2	3	3	1	2	2	3	rs778098431		C3N-00556_TP	C3N-00556_NB	G	G																c.829C>A	p.Leu277Met	p.L277M	ENST00000394767	2/3	259	243	16	261	261	0	strelka-varscan	CXXC4,missense_variant,p.Leu277Met,ENST00000394767,NM_025212.2;AC004053.1,non_coding_transcript_exon_variant,,ENST00000500179,;CXXC4,intron_variant,,ENST00000466963,;	T	ENST00000394767	Transcript	missense_variant	1280/5565	829/1104	277/367	L/M	Ctg/Atg	rs778098431	1		-1	CXXC4	HGNC	HGNC:24593	protein_coding	YES	CCDS3665.2	ENSP00000378248		J9JIF5	UPI0000E5AC2D	NM_025212.2	deleterious(0.02)		2/3		hmmpanther:PTHR13419,hmmpanther:PTHR13419:SF1																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	55	104490974	104490974	G	T	1	0	0	0	0	1	0	0	0	3908	933	33	2		2	CXXC4	4	104490974	Missense_Mutation	SNP	G	C3N-00556_TP	4303200	104490974	85723581	136	17490											
EGF	0	.	GRCh38	chr4	109943335	109943335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttatttggtcaaatcaacagGaaggaatcattacagtaaca	17	11	7	6	0	3	0	3	0	0	0	3	2	3	2	0	3	3	1	0	3	7	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.409G>A	p.Glu137Lys	p.E137K	ENST00000265171	3/24	76	68	8	120	120	0	strelka-varscan	EGF,missense_variant,p.Glu137Lys,ENST00000265171,NM_001963.4;EGF,missense_variant,p.Glu137Lys,ENST00000509793,NM_001178131.1;EGF,missense_variant,p.Glu137Lys,ENST00000503392,NM_001178130.1;EGF,non_coding_transcript_exon_variant,,ENST00000502723,;	A	ENST00000265171	Transcript	missense_variant	854/4880	409/3624	137/1207	E/K	Gaa/Aaa		1		1	EGF	HGNC	HGNC:3229	protein_coding	YES	CCDS3689.1	ENSP00000265171	P01133		UPI000013D5C8	NM_001963.4	tolerated(0.9)		3/24		Gene3D:2.120.10.30,PIRSF_domain:PIRSF001778,PROSITE_profiles:PS51120,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	109943335	109943335	G	A	1	0	0	0	0	1	0	0	0	4798	1175	41	3		3	EGF	4	109943335	Missense_Mutation	SNP	G	C3N-00556_TP	5452361	109943335	80271220	137	17491											
ANK2	0	.	GRCh38	chr4	113355669	113355669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaggaggcagcctgtgatGaaggtcaacgtacctttggt	9	10	14	8	1	1	3	1	3	0	0	1	4	1	4	2	4	3	2	2	4	3	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.7051G>A	p.Glu2351Lys	p.E2351K	ENST00000357077	38/46	217	170	47	281	281	0	strelka-varscan	ANK2,missense_variant,p.Glu2351Lys,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Glu2318Lys,ENST00000264366,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000612754,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	A	ENST00000357077	Transcript	missense_variant	7104/14196	7051/11874	2351/3957	E/K	Gaa/Aaa		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	tolerated_low_confidence(0.38)		38/46		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	113355669	113355669	G	A	1	0	0	0	0	1	0	0	0	721	1291	45	3		3	ANK2	4	113355669	Missense_Mutation	SNP	G	C3N-00556_TP	3412334	113355669	76858886	138	17492											
FSTL5	0	.	GRCh38	chr4	161455081	161455081	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aattgctttcccactggttgGgtgtggatcgtgtggtgagg	5	14	16	6	1	0	1	0	1	0	0	2	2	1	2	1	5	1	2	1	5	1	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1764C>A	p.=	p.T588T	ENST00000306100	15/16	134	108	26	125	124	1	strelka-varscan	FSTL5,synonymous_variant,p.=,ENST00000306100,NM_020116.4;FSTL5,synonymous_variant,p.=,ENST00000379164,NM_001128427.2;FSTL5,synonymous_variant,p.=,ENST00000427802,NM_001128428.2;	T	ENST00000306100	Transcript	synonymous_variant	2201/4831	1764/2544	588/847	T	acC/acA		1		-1	FSTL5	HGNC	HGNC:21386	protein_coding	YES	CCDS3802.1	ENSP00000305334	Q8N475		UPI000020B66B	NM_020116.4			15/16		hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF44,Gene3D:2.130.10.10,Superfamily_domains:0047643																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	161455081	161455081	G	T	1	0	0	0	0	0	0	0	1	5954	1219	43	2		2	FSTL5	4	161455081	Silent	SNP	G	C3N-00556_TP	48099412	161455081	28759474	139	17493											
CPE	0	.	GRCh38	chr4	165482328	165482328	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccatggaggagaccttgtGgccaattatccatatgatga	11	11	10	9	0	0	3	0	2	0	1	2	5	2	4	4	3	0	0	4	3	3	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.759G>T	p.=	p.V253V	ENST00000402744	4/9	191	169	22	189	188	1	strelka-varscan	CPE,synonymous_variant,p.=,ENST00000402744,NM_001873.2;CPE,synonymous_variant,p.=,ENST00000431967,;CPE,synonymous_variant,p.=,ENST00000511992,;CPE,downstream_gene_variant,,ENST00000513982,;	T	ENST00000402744	Transcript	synonymous_variant	1039/2421	759/1431	253/476	V	gtG/gtT		1		1	CPE	HGNC	HGNC:2303	protein_coding	YES	CCDS3810.1	ENSP00000386104	P16870		UPI000000163E	NM_001873.2			4/9		hmmpanther:PTHR11532,PROSITE_patterns:PS00133,Pfam_domain:PF00246,Gene3D:3.40.630.10,SMART_domains:SM00631,Superfamily_domains:SSF53187,Prints_domain:PR00765																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	165482328	165482328	G	T	1	0	0	0	0	0	0	0	1	3593	1335	47	2		2	CPE	4	165482328	Silent	SNP	G	C3N-00556_TP	4027247	165482328	24732227	140	17494											
PLEKHG4B	0	.	GRCh38	chr5	143079	143079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcagcctgtgtcagcacaGacggcggcagcctccattgc	7	7	11	16	2	2	1	2	0	0	1	3	1	3	1	4	2	4	2	4	2	0	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.442G>A	p.Asp148Asn	p.D148N	ENST00000283426	2/18	249	234	15	245	245	0	strelka-varscan-mutect	PLEKHG4B,missense_variant,p.Asp504Asn,ENST00000637938,;PLEKHG4B,missense_variant,p.Asp148Asn,ENST00000283426,NM_052909.3;PLEKHG4B,missense_variant,p.Asp62Asn,ENST00000502646,;Y_RNA,downstream_gene_variant,,ENST00000362670,;	A	ENST00000283426	Transcript	missense_variant	492/11515	442/3816	148/1271	D/N	Gac/Aac		1		1	PLEKHG4B	HGNC	HGNC:29399	protein_coding	YES	CCDS34124.1	ENSP00000283426	Q96PX9		UPI0000D615EE	NM_052909.3	tolerated(0.41)		2/18																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	143079	143079	G	A	1	0	0	0	0	1	0	0	0	12165	942	33	3		3	PLEKHG4B	5	143079	Missense_Mutation	SNP	G	C3N-00556_TP		143079	181395180	141	17495											
SEMA5A	0	.	GRCh38	chr5	9051908	9051908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaacacacacggccggCtctccgtggtgttcccggag	8	7	12	14	4	2	0	1	0	1	0	4	1	3	1	3	4	1	2	3	4	1	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2810G>T	p.Ser937Ile	p.S937I	ENST00000382496	20/23	221	152	69	197	197	0	strelka-varscan-mutect	SEMA5A,missense_variant,p.Ser937Ile,ENST00000382496,NM_003966.2;MIR4636,downstream_gene_variant,,ENST00000582271,;	A	ENST00000382496	Transcript	missense_variant	3476/11762	2810/3225	937/1074	S/I	aGc/aTc		1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2	tolerated(0.11)		20/23		PROSITE_profiles:PS50092,hmmpanther:PTHR11036:SF78,hmmpanther:PTHR11036,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895,Prints_domain:PR01705																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	9051908	9051908	C	A	1	0	0	0	0	1	0	0	0	14313	797	28	2		2	SEMA5A	5	9051908	Missense_Mutation	SNP	C	C3N-00556_TP	8908829	9051908	172486351	142	17496											
RXFP3	0	.	GRCh38	chr5	33938064	33938064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgccgccccacgcggccgcgGagccggacctgctctactac	5	4	12	20	7	1	0	0	0	1	0	1	2	1	2	6	3	4	1	6	3	2	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1324G>A	p.Glu442Lys	p.E442K	ENST00000330120	1/1	160	139	21	168	168	0	strelka-varscan-mutect	RXFP3,missense_variant,p.Glu442Lys,ENST00000330120,NM_016568.3;	A	ENST00000330120	Transcript	missense_variant	1679/1852	1324/1410	442/469	E/K	Gag/Aag		1		1	RXFP3	HGNC	HGNC:24883	protein_coding	YES	CCDS3900.1	ENSP00000328708	Q9NSD7		UPI0000046AEB	NM_016568.3	deleterious(0.04)		1/1		hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF70,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	55	33938064	33938064	G	A	1	0	0	0	0	1	0	0	0	14022	1175	41	3		3	RXFP3	5	33938064	Missense_Mutation	SNP	G	C3N-00556_TP	24886156	33938064	147600195	143	17497											
PTGER4	0	.	GRCh38	chr5	40692254	40692254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttcacagggtcaggactCagagagtgtcttactggtgg	8	11	13	9	0	5	1	3	0	2	1	5	3	5	2	0	4	1	0	0	4	1	2			C3N-00556_TP	C3N-00556_NB	C	C																c.1343C>T	p.Ser448Leu	p.S448L	ENST00000302472	3/3	151	141	10	153	153	0	strelka-varscan-mutect	PTGER4,missense_variant,p.Ser448Leu,ENST00000302472,NM_000958.2;TTC33,intron_variant,,ENST00000636106,;TTC33,intron_variant,,ENST00000637375,;TTC33,intron_variant,,ENST00000636863,;PTGER4,downstream_gene_variant,,ENST00000512578,;PTGER4,downstream_gene_variant,,ENST00000513635,;	T	ENST00000302472	Transcript	missense_variant	2367/3848	1343/1467	448/488	S/L	tCa/tTa	COSM5208706	1		1	PTGER4	HGNC	HGNC:9596	protein_coding	YES	CCDS3930.1	ENSP00000302846	P35408		UPI000005042F	NM_000958.2	tolerated_low_confidence(0.24)		3/3		hmmpanther:PTHR11866:SF6,hmmpanther:PTHR11866											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	55	40692254	40692254	C	T	1	0	0	0	0	1	0	0	0	12900	838	29	3		3	PTGER4	5	40692254	Missense_Mutation	SNP	C	C3N-00556_TP	6754190	40692254	140846005	144	17498											
MROH2B	0	.	GRCh38	chr5	41004523	41004523	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcattaactgcttatgtttCttcacctattttgaaataag	12	17	5	7	0	2	1	1	1	1	0	2	1	2	1	1	0	3	3	1	0	5	8	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.4017G>A	p.=	p.K1339K	ENST00000399564	37/42	85	80	5	99	99	0	strelka-varscan-mutect	MROH2B,synonymous_variant,p.=,ENST00000399564,NM_173489.4;MROH2B,synonymous_variant,p.=,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;MROH2B,upstream_gene_variant,,ENST00000511934,;	T	ENST00000399564	Transcript	synonymous_variant	4468/5239	4017/4758	1339/1585	K	aaG/aaA		1		-1	MROH2B	HGNC	HGNC:26857	protein_coding	YES	CCDS47202.1	ENSP00000382476	Q7Z745		UPI000020CA04	NM_173489.4			37/42		hmmpanther:PTHR23120:SF22,hmmpanther:PTHR23120,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	41004523	41004523	C	T	1	0	0	0	0	0	0	0	1	9745	927	32	3		3	MROH2B	5	41004523	Silent	SNP	C	C3N-00556_TP	312269	41004523	140533736	145	17499											
CCDC152	0	.	GRCh38	chr5	42762442	42762443	+	Frame_Shift_Ins	INS	-	-	A																															gtattctatttcttctacagINSaaaatggtagaaaccaatgg																								novel		C3N-00556_TP	C3N-00556_NB	-	-																c.91dupA	p.Met31AsnfsTer19	p.M31Nfs*19	ENST00000361970		83	51	32	110	110	0	sindel-varindel-pindel	CCDC152,frameshift_variant,p.Met31AsnfsTer19,ENST00000361970,NM_001134848.1;CCDC152,frameshift_variant,p.Met31AsnfsTer19,ENST00000388827,;	A	ENST00000361970	Transcript	frameshift_variant,splice_region_variant	174-175/3431	87-88/765	29-30/254	-/X	-/A		1		1	CCDC152	HGNC	HGNC:34438	protein_coding	YES	CCDS47203.1	ENSP00000354888	Q4G0S7	A0A024R043	UPI0000160C50	NM_001134848.1					hmmpanther:PTHR35253,hmmpanther:PTHR35253:SF1																	HIGH	1	insertion	1	4		1										PASS		.	.												A	7	5	55	42762442	42762442	-	A	1	0	1	1	0	0	0	0	0	2473	956	33	0		0	CCDC152	5	42762442	Frame_Shift_Ins	INS	-	C3N-00556_TP	1757919	42762442	138775817	146	17500											
HTR1A	0	.	GRCh38	chr5	63961188	63961188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggtccgagcggtcttccgGggtgcgccagcccagcatgg	4	6	18	13	4	1	0	0	0	1	0	3	1	3	0	4	6	4	1	4	6	0	1			C3N-00556_TP	C3N-00556_NB	G	G																c.532C>A	p.Pro178Thr	p.P178T	ENST00000323865	1/1	407	318	89	453	453	0	strelka-varscan-mutect	HTR1A,missense_variant,p.Pro178Thr,ENST00000323865,NM_000524.3;HTR1A,downstream_gene_variant,,ENST00000506598,;RP11-158J3.2,intron_variant,,ENST00000502882,;	T	ENST00000323865	Transcript	missense_variant	946/1778	532/1269	178/422	P/T	Ccg/Acg	COSM5455415	1		-1	HTR1A	HGNC	HGNC:5286	protein_coding	YES	CCDS34168.1	ENSP00000316244	P08908	Q5ZGX3	UPI0000124F1A	NM_000524.3	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF20,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00512											1						MODERATE		SNV			1	1										PASS		.	.												T	3	4	55	63961188	63961188	G	T	1	0	0	0	0	1	0	0	0	7332	1232	43	2		2	HTR1A	5	63961188	Missense_Mutation	SNP	G	C3N-00556_TP	21198746	63961188	117577071	147	17501											
SLCO4C1	0	.	GRCh38	chr5	102291508	102291508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacaaacagaatgaaatatCgtagcttgatgaaatcaggc	18	8	8	7	1	1	4	1	3	0	1	2	4	1	4	0	1	3	2	0	1	7	3	rs763016704		C3N-00556_TP	C3N-00556_NB	C	C																c.454G>A	p.Asp152Asn	p.D152N	ENST00000310954	2/13	249	236	13	273	273	0	strelka-varscan	SLCO4C1,missense_variant,p.Asp152Asn,ENST00000310954,NM_180991.4;	T	ENST00000310954	Transcript	missense_variant	741/5334	454/2175	152/724	D/N	Gat/Aat	rs763016704,COSM1695996	1		-1	SLCO4C1	HGNC	HGNC:23612	protein_coding	YES	CCDS34205.1	ENSP00000309741	Q6ZQN7		UPI00001C10B6	NM_180991.4	deleterious(0)		2/13		Gene3D:1.20.1250.20,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF103,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	55	102291508	102291508	C	T	1	0	0	0	0	1	0	0	0	15017	884	31	1		1	SLCO4C1	5	102291508	Missense_Mutation	SNP	C	C3N-00556_TP	38330320	102291508	79246751	148	17502											
APC	0	.	GRCh38	chr5	112819284	112819284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagatacgcgcttactgtGaaacctgttgggagtggcag	11	9	13	8	2	0	2	0	1	0	1	0	3	0	3	1	2	4	3	1	2	4	3			C3N-00556_TP	C3N-00556_NB	G	G																c.1252G>A	p.Glu418Lys	p.E418K	ENST00000257430	10/16	114	106	8	179	179	0	strelka-varscan-mutect	APC,missense_variant,p.Glu418Lys,ENST00000257430,NM_000038.5;APC,missense_variant,p.Glu418Lys,ENST00000508376,NM_001127510.2;APC,missense_variant,p.Glu418Lys,ENST00000512211,;APC,missense_variant,p.Glu400Lys,ENST00000507379,NM_001127511.2;APC,upstream_gene_variant,,ENST00000504915,;APC,3_prime_UTR_variant,,ENST00000508624,;APC,upstream_gene_variant,,ENST00000502371,;	A	ENST00000257430	Transcript	missense_variant	1308/10701	1252/8532	418/2843	E/K	Gaa/Aaa	COSM1541294,COSM1541295	1		1	APC	HGNC	HGNC:583	protein_coding	YES	CCDS4107.1	ENSP00000257430	P25054		UPI000013CF60	NM_000038.5	deleterious(0)		10/16		Gene3D:1.25.10.10,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11,Superfamily_domains:SSF48371											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	55	112819284	112819284	G	A	1	0	0	0	0	1	0	0	0	883	1291	45	3		3	APC	5	112819284	Missense_Mutation	SNP	G	C3N-00556_TP	10527776	112819284	68718975	149	17503											
DDX46	0	.	GRCh38	chr5	134781951	134781951	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggaagaagttgatcttCagacagcccttacagggtat	13	9	12	7	0	2	3	1	1	1	2	2	5	2	5	1	3	2	2	1	3	4	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.910C>T	p.Gln304Ter	p.Q304*	ENST00000452510	8/23	209	182	27	302	302	0	strelka-varscan-mutect	DDX46,stop_gained,p.Gln304Ter,ENST00000452510,NM_001300860.1;DDX46,stop_gained,p.Gln304Ter,ENST00000354283,NM_014829.3;DDX46,stop_gained,p.Gln256Ter,ENST00000628477,;DDX46,upstream_gene_variant,,ENST00000509178,;DDX46,stop_gained,p.Gln256Ter,ENST00000507392,;DDX46,non_coding_transcript_exon_variant,,ENST00000513987,;DDX46,intron_variant,,ENST00000505592,;DDX46,upstream_gene_variant,,ENST00000513592,;DDX46,downstream_gene_variant,,ENST00000509255,;	T	ENST00000452510	Transcript	stop_gained	1068/5689	910/3099	304/1032	Q/*	Cag/Tag		1		1	DDX46	HGNC	HGNC:18681	protein_coding	YES	CCDS75306.1	ENSP00000416534		A0A0C4DG89	UPI000006F4C9	NM_001300860.1			8/23		Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	55	134781951	134781951	C	T	1	0	0	0	0	0	1	0	0	4167	827	29	3		3	DDX46	5	134781951	Nonsense_Mutation	SNP	C	C3N-00556_TP	21962667	134781951	46756308	150	17504											
KIF20A	0	.	GRCh38	chr5	138181624	138181624	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagggttgtgtccgtattGagaatgtggagacccttgtt	7	14	13	7	1	1	2	1	1	0	2	2	4	2	2	2	2	0	3	2	2	2	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.271G>C	p.Glu91Gln	p.E91Q	ENST00000394894	4/19	197	177	20	225	224	1	strelka-varscan-mutect	KIF20A,missense_variant,p.Glu91Gln,ENST00000394894,NM_005733.2;KIF20A,missense_variant,p.Glu73Gln,ENST00000508792,;KIF20A,missense_variant,p.Glu91Gln,ENST00000504621,;KIF20A,missense_variant,p.Glu91Gln,ENST00000513276,;BRD8,upstream_gene_variant,,ENST00000254900,NM_139199.1;BRD8,upstream_gene_variant,,ENST00000230901,NM_006696.3;BRD8,upstream_gene_variant,,ENST00000454473,NM_001300966.1;BRD8,upstream_gene_variant,,ENST00000402931,NM_001300961.1,NM_001300962.1;BRD8,upstream_gene_variant,,ENST00000411594,NM_001164326.1;BRD8,upstream_gene_variant,,ENST00000418329,;BRD8,upstream_gene_variant,,ENST00000441656,;BRD8,upstream_gene_variant,,ENST00000430331,;BRD8,upstream_gene_variant,,ENST00000425764,;KIF20A,non_coding_transcript_exon_variant,,ENST00000511638,;KIF20A,non_coding_transcript_exon_variant,,ENST00000503417,;BRD8,upstream_gene_variant,,ENST00000512140,;BRD8,upstream_gene_variant,,ENST00000432618,;BRD8,upstream_gene_variant,,ENST00000428808,;KIF20A,upstream_gene_variant,,ENST00000502338,;BRD8,upstream_gene_variant,,ENST00000450756,;BRD8,upstream_gene_variant,,ENST00000515254,;BRD8,upstream_gene_variant,,ENST00000471437,;	C	ENST00000394894	Transcript	missense_variant	497/3201	271/2673	91/890	E/Q	Gag/Cag		1		1	KIF20A	HGNC	HGNC:9787	protein_coding	YES	CCDS4199.1	ENSP00000378356	O95235		UPI0000000CCE	NM_005733.2	tolerated(0.35)		4/19		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF352,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	138181624	138181624	G	C	1	0	0	0	0	1	0	0	0	8151	1291	45	4		4	KIF20A	5	138181624	Missense_Mutation	SNP	G	C3N-00556_TP	3399673	138181624	43356635	151	17505											
LRRTM2	0	.	GRCh38	chr5	138874429	138874429	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgagagtcgcagtagaaGagcagcttctcgcagcggca	10	6	13	12	3	1	3	0	1	1	3	3	4	1	3	1	1	3	6	1	1	2	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.132C>T	p.=	p.L44L	ENST00000274711	2/2	221	208	13	245	245	0	strelka-mutect	LRRTM2,synonymous_variant,p.=,ENST00000274711,NM_015564.2;CTNNA1,intron_variant,,ENST00000627109,NM_001290307.1;CTNNA1,intron_variant,,ENST00000302763,NM_001323984.1,NM_001323983.1,NM_001903.3,NM_001290310.1,NM_001290309.1;CTNNA1,intron_variant,,ENST00000518825,;LRRTM2,intron_variant,,ENST00000518785,;LRRTM2,intron_variant,,ENST00000521094,;CTNNA1,intron_variant,,ENST00000518381,;CTNNA1,upstream_gene_variant,,ENST00000540387,NM_001290312.1;CTNNA1,upstream_gene_variant,,ENST00000522013,;CTNNA1,upstream_gene_variant,,ENST00000520260,;CTNNA1,upstream_gene_variant,,ENST00000523685,;CTNNA1,upstream_gene_variant,,ENST00000519634,;CTNNA1,upstream_gene_variant,,ENST00000517533,;CTNNA1,upstream_gene_variant,,ENST00000523298,;CTNNA1,upstream_gene_variant,,ENST00000521640,;CTNNA1,upstream_gene_variant,,ENST00000521683,;CTNNA1,upstream_gene_variant,,ENST00000519116,;CTNNA1,upstream_gene_variant,,ENST00000519768,;CTNNA1,upstream_gene_variant,,ENST00000520865,;CTNNA1,upstream_gene_variant,,ENST00000517656,;CTNNA1,intron_variant,,ENST00000520400,;LRRTM2,intron_variant,,ENST00000523537,;CTNNA1,upstream_gene_variant,,ENST00000524292,;CTNNA1,upstream_gene_variant,,ENST00000518263,;CTNNA1,intron_variant,,ENST00000521724,;CTNNA1,intron_variant,,ENST00000523275,;CTNNA1,intron_variant,,ENST00000517534,;CTNNA1,upstream_gene_variant,,ENST00000522052,;	A	ENST00000274711	Transcript	synonymous_variant	511/6017	132/1551	44/516	L	ctC/ctT		1		-1	LRRTM2	HGNC	HGNC:19409	protein_coding	YES	CCDS47272.1	ENSP00000274711	O43300		UPI0000070039	NM_015564.2			2/2		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF262,Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	138874429	138874429	G	A	1	0	0	0	0	0	0	0	1	8946	929	33	3		3	LRRTM2	5	138874429	Silent	SNP	G	C3N-00556_TP	692805	138874429	42663830	152	17506											
NRG2	0	.	GRCh38	chr5	139848487	139848499	+	Frame_Shift_Del	DEL	CCCGGGTCCGGGT	CCCGGGTCCGGGT	-																															gcgccgggcccgggcccgggCccgggtccgggtcccgggcc																								novel		C3N-00556_TP	C3N-00556_NB	CCCGGGTCCGGGT	CCCGGGTCCGGGT																c.1971_1983delACCCGGACCCGGG	p.Gly663AlafsTer99	p.G663Afs*99	ENST00000361474	10/10	72	54	18	74	74	0	sindel-varindel-pindel	NRG2,frameshift_variant,p.Gly597AlafsTer99,ENST00000541337,NM_001184935.1;NRG2,frameshift_variant,p.Gly663AlafsTer99,ENST00000361474,NM_004883.2;NRG2,frameshift_variant,p.Gly671AlafsTer99,ENST00000289422,NM_013982.2;NRG2,frameshift_variant,p.Gly665AlafsTer99,ENST00000358522,NM_013983.2;NRG2,frameshift_variant,p.Gly657AlafsTer99,ENST00000289409,NM_013981.3;NRG2,frameshift_variant,p.Gly460AlafsTer99,ENST00000340391,;PSD2,downstream_gene_variant,,ENST00000274710,NM_032289.2;CTB-35F21.4,intron_variant,,ENST00000504413,;NRG2,downstream_gene_variant,,ENST00000378238,;	-	ENST00000361474	Transcript	frameshift_variant	2196-2208/3020	1971-1983/2553	657-661/850	GPGPG/X	ggACCCGGACCCGGG/gg		1		-1	NRG2	HGNC	HGNC:7998	protein_coding	YES	CCDS4217.1	ENSP00000354910	O14511		UPI0000130507	NM_004883.2			10/10		Low_complexity_(Seg):seg,hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF20,Pfam_domain:PF02158																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	55	139848487	139848487	CCCGGGTCCGGGT	-	1	0	1	0	1	0	0	0	0	10706	726	26	0		0	NRG2	5	139848487	Frame_Shift_Del	DEL	CCCGGGTCCGGGT	C3N-00556_TP	974058	139848487	41689772	153	17507											
PCDHB12	0	.	GRCh38	chr5	141211036	141211036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtgctcctgttcgtggCggtgcggctgtgcaggagga	3	10	18	10	4	0	0	0	0	0	0	3	2	1	2	1	6	3	4	1	6	0	1			C3N-00556_TP	C3N-00556_NB	C	C																c.2129C>A	p.Ala710Glu	p.A710E	ENST00000239450	1/1	304	237	67	351	350	1	strelka-varscan-mutect	PCDHB12,missense_variant,p.Ala710Glu,ENST00000239450,NM_018932.3;PCDHB12,missense_variant,p.Ala373Glu,ENST00000624949,;PCDHB12,3_prime_UTR_variant,,ENST00000622978,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.3;CH17-140K24.2,intron_variant,,ENST00000624192,;	A	ENST00000239450	Transcript	missense_variant	2318/3853	2129/2388	710/795	A/E	gCg/gAg	COSM5229689	1		1	PCDHB12	HGNC	HGNC:8683	protein_coding	YES	CCDS4254.1	ENSP00000239450	Q9Y5F1		UPI000000DAFD	NM_018932.3	deleterious_low_confidence(0)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR24028:SF59,hmmpanther:PTHR24028,Pfam_domain:PF16492,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	55	141211036	141211036	C	A	1	0	0	0	0	1	0	0	0	11624	768	27	1		1	PCDHB12	5	141211036	Missense_Mutation	SNP	C	C3N-00556_TP	1362549	141211036	40327223	154	17508											
PCDHGA2	0	.	GRCh38	chr5	141340672	141340672	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagatcctgtaccctgccttCcccacagacggttccactgg	7	9	9	16	1	0	2	0	0	0	2	3	3	3	2	6	2	2	2	6	2	1	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1701C>T	p.=	p.F567F	ENST00000394576	1/4	345	327	18	387	387	0	varscan-mutect	PCDHGA2,synonymous_variant,p.=,ENST00000394576,NM_018915.3;PCDHGA2,synonymous_variant,p.=,ENST00000528330,NM_032009.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3;PCDHGA3,upstream_gene_variant,,ENST00000619750,NM_032011.1;PCDHGA3,upstream_gene_variant,,ENST00000612467,;	T	ENST00000394576	Transcript	synonymous_variant	1701/4605	1701/2799	567/932	F	ttC/ttT		1		1	PCDHGA2	HGNC	HGNC:8700	protein_coding	YES	CCDS47289.1	ENSP00000378077	Q9Y5H1		UPI0000072E67	NM_018915.3			1/4		hmmpanther:PTHR24028:SF134,hmmpanther:PTHR24028,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	141340672	141340672	C	T	1	0	0	0	0	0	0	0	1	11641	854	30	3		3	PCDHGA2	5	141340672	Silent	SNP	C	C3N-00556_TP	129636	141340672	40197587	155	17509											
PCDHGB7	0	.	GRCh38	chr5	141419405	141419405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagagcggggtggtgttcGcgcagcgcgccttcgaccac	5	6	16	14	7	0	1	0	0	0	1	2	2	0	1	2	3	2	3	2	3	0	2			C3N-00556_TP	C3N-00556_NB	G	G																c.1546G>A	p.Ala516Thr	p.A516T	ENST00000398594	1/4	325	244	81	338	338	0	strelka-varscan-mutect	PCDHGB7,missense_variant,p.Ala516Thr,ENST00000398594,NM_018927.3;PCDHGB7,missense_variant,p.Ala516Thr,ENST00000612073,NM_032101.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGA11,upstream_gene_variant,,ENST00000398587,NM_018914.2;PCDHGA10,downstream_gene_variant,,ENST00000612503,NM_032090.1;PCDHGA11,upstream_gene_variant,,ENST00000622044,NM_032091.1;PCDHGA11,upstream_gene_variant,,ENST00000518882,NM_032092.1;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000398594	Transcript	missense_variant	1715/4765	1546/2790	516/929	A/T	Gcg/Acg	COSM1434529	1		1	PCDHGB7	HGNC	HGNC:8714	protein_coding	YES	CCDS47293.1	ENSP00000381594	Q9Y5F8		UPI000007141F	NM_018927.3	deleterious(0.02)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF113,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205											1						MODERATE	1	SNV	1		1	1										PASS		rs1219399978	.												A	3	1	55	141419405	141419405	G	A	1	0	0	0	0	1	0	0	0	11655	1087	38	1		1	PCDHGB7	5	141419405	Missense_Mutation	SNP	G	C3N-00556_TP	78733	141419405	40118854	156	17510											
GABRB2	0	.	GRCh38	chr5	161331033	161331033	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgaagacaaagcaccccatCaggtacatgtcaatggcctt	14	7	8	12	1	2	1	2	0	0	1	2	2	2	1	3	2	2	2	3	2	4	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.927G>A	p.=	p.L309L	ENST00000274547	9/11	97	89	8	104	103	1	strelka-varscan-mutect	GABRB2,synonymous_variant,p.=,ENST00000274547,NM_021911.2;GABRB2,synonymous_variant,p.=,ENST00000393959,;GABRB2,synonymous_variant,p.=,ENST00000612710,;GABRB2,synonymous_variant,p.=,ENST00000520240,;GABRB2,synonymous_variant,p.=,ENST00000353437,NM_000813.2;GABRB2,synonymous_variant,p.=,ENST00000517901,;GABRB2,synonymous_variant,p.=,ENST00000517547,;	T	ENST00000274547	Transcript	synonymous_variant	1145/7409	927/1539	309/512	L	ctG/ctA		1		-1	GABRB2	HGNC	HGNC:4082	protein_coding	YES	CCDS4355.1	ENSP00000274547	P47870		UPI000002AA29	NM_021911.2			9/11		Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF221,hmmpanther:PTHR18945,Gene3D:1.20.58.390,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112,Prints_domain:PR00253,Prints_domain:PR01160																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	55	161331033	161331033	C	T	1	0	0	0	0	0	0	0	1	6038	813	29	3		3	GABRB2	5	161331033	Silent	SNP	C	C3N-00556_TP	19911628	161331033	20207226	157	17511											
TUBB2B	0	.	GRCh38	chr6	3226590	3226590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattgtagtaaacattgattCtctccagctgcaaatcactg	12	13	6	10	0	2	1	1	1	1	0	4	1	3	1	1	0	3	4	1	0	4	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.137G>A	p.Arg46Lys	p.R46K	ENST00000259818	2/4	309	292	17	319	318	1	strelka-varscan-mutect	TUBB2B,missense_variant,p.Arg46Lys,ENST00000259818,NM_178012.4;TUBB2B,non_coding_transcript_exon_variant,,ENST00000473006,;PSMG4,upstream_gene_variant,,ENST00000509933,;	T	ENST00000259818	Transcript	missense_variant	329/2020	137/1338	46/445	R/K	aGa/aAa		1		-1	TUBB2B	HGNC	HGNC:30829	protein_coding	YES	CCDS4485.1	ENSP00000259818	Q9BVA1		UPI0000024E6E	NM_178012.4	deleterious_low_confidence(0.04)		2/4		Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01163,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF138,Superfamily_domains:SSF52490																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	3226590	3226590	C	T	1	0	0	0	0	1	0	0	0	17266	913	32	3		3	TUBB2B	6	3226590	Missense_Mutation	SNP	C	C3N-00556_TP		3226590	167579389	158	17512											
DCDC2	0	.	GRCh38	chr6	24302030	24302030	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacacgttgatcctgctatgGattactggttttacctttaa	9	16	8	8	1	0	1	0	1	0	0	1	3	1	2	2	2	3	3	2	2	4	7			C3N-00556_TP	C3N-00556_NB	G	G																c.363C>T	p.=	p.I121I	ENST00000378454	3/10	90	84	6	118	118	0	strelka-varscan-mutect	DCDC2,synonymous_variant,p.=,ENST00000378454,NM_016356.4,NM_001195610.1;	A	ENST00000378454	Transcript	synonymous_variant	665/4707	363/1431	121/476	I	atC/atT	COSM4903828	1		-1	DCDC2	HGNC	HGNC:18141	protein_coding	YES	CCDS4550.1	ENSP00000367715	Q9UHG0		UPI000013DA24	NM_016356.4,NM_001195610.1			3/10		hmmpanther:PTHR23004,hmmpanther:PTHR23004:SF5											1						LOW	1	SNV	1		1	1										PASS		rs1286510688	.												A	2	1	55	24302030	24302030	G	A	1	0	0	0	0	0	0	0	1	4087	1164	41	3		3	DCDC2	6	24302030	Silent	SNP	G	C3N-00556_TP	21075440	24302030	146503949	159	17513											
HIST1H2BL	0	.	GRCh38	chr6	27807685	27807685	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcgggaagcctcgcttgcGatgcgctcgaagatgtcgtt	7	9	15	10	6	0	1	0	0	0	1	3	4	0	2	1	2	3	3	1	2	2	2			C3N-00556_TP	C3N-00556_NB	G	G																c.222C>T	p.=	p.I74I	ENST00000377401	1/1	339	299	40	360	360	0	strelka-varscan	HIST1H2BL,synonymous_variant,p.=,ENST00000377401,NM_003519.3;HIST1H3H,upstream_gene_variant,,ENST00000369163,NM_003536.2;HIST1H2AI,upstream_gene_variant,,ENST00000358739,NM_003509.2;HIST1H4PS1,downstream_gene_variant,,ENST00000406085,;	A	ENST00000377401	Transcript	synonymous_variant	247/488	222/381	74/126	I	atC/atT	COSM373212,COSM461831	1		-1	HIST1H2BL	HGNC	HGNC:4748	protein_coding	YES	CCDS4625.1	ENSP00000366618	Q99880		UPI0000001BD6	NM_003519.3			1/1		hmmpanther:PTHR23428,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621											1,1						LOW	1	SNV			1,1	1										PASS		.	.												A	2	1	55	27807685	27807685	G	A	1	0	0	0	0	0	0	0	1	7039	1048	37	1		1	HIST1H2BL	6	27807685	Silent	SNP	G	C3N-00556_TP	3505655	27807685	142998294	160	17514											
MDC1	0	.	GRCh38	chr6	30703233	30703233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagccagacttcccccCagtgccagcacagcccgctc	9	4	8	20	1	0	1	0	0	0	1	2	2	1	1	7	0	5	2	7	0	1	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.5736G>A	p.=	p.L1912L	ENST00000376406	12/15	123	116	7	94	94	0	strelka-varscan	MDC1,synonymous_variant,p.=,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,non_coding_transcript_exon_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,;	T	ENST00000376406	Transcript	synonymous_variant	6384/7576	5736/6270	1912/2089	L	ctG/ctA		1		-1	MDC1	HGNC	HGNC:21163	protein_coding	YES	CCDS34384.1	ENSP00000365588	Q14676		UPI00001AF453	NM_014641.2			12/15		Low_complexity_(Seg):seg,PROSITE_profiles:PS50172,hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF1,Gene3D:3.40.50.10190,Pfam_domain:PF16770,Superfamily_domains:SSF52113																	LOW		SNV	5			1										PASS		.	.												T	2	4	55	30703233	30703233	C	T	1	0	0	0	0	0	0	0	1	9341	581	21	3		3	MDC1	6	30703233	Silent	SNP	C	C3N-00556_TP	2895548	30703233	140102746	161	17515											
NOTCH4	0	.	GRCh38	chr6	32220245	32220245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgggcatccccatggcacGgctggctcagacacatgtct	8	9	11	13	1	2	1	1	0	1	1	3	1	3	1	2	4	0	4	2	4	0	1	rs755786715		C3N-00556_TP	C3N-00556_NB	G	G																c.1199C>A	p.Pro400Gln	p.P400Q	ENST00000375023	7/30	150	113	37	159	159	0	strelka-varscan	NOTCH4,missense_variant,p.Pro400Gln,ENST00000375023,NM_004557.3;NOTCH4,non_coding_transcript_exon_variant,,ENST00000473562,;	T	ENST00000375023	Transcript	missense_variant	1338/6745	1199/6012	400/2003	P/Q	cCg/cAg	rs755786715	1		-1	NOTCH4	HGNC	HGNC:7884	protein_coding	YES	CCDS34420.1	ENSP00000364163	Q99466		UPI0000130571	NM_004557.3	deleterious(0.01)		7/30		PROSITE_profiles:PS50026,hmmpanther:PTHR24033:SF64,hmmpanther:PTHR24033,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	32220245	32220245	G	T	1	0	0	0	0	1	0	0	0	10596	1116	39	1		1	NOTCH4	6	32220245	Missense_Mutation	SNP	G	C3N-00556_TP	1517012	32220245	138585734	162	17516											
DNAH8	0	.	GRCh38	chr6	38842815	38842815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatagaatctccgagttaaCtggaaccccatttgatgtgg	11	11	11	8	1	1	2	0	1	1	1	2	5	1	4	3	3	2	1	3	3	4	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.4757C>T	p.Thr1586Ile	p.T1586I	ENST00000327475	35/93	308	230	78	343	343	0	strelka-varscan	DNAH8,missense_variant,p.Thr1586Ile,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Thr1369Ile,ENST00000359357,;DNAH8,missense_variant,p.Thr1586Ile,ENST00000449981,;	T	ENST00000327475	Transcript	missense_variant	4866/14360	4757/14124	1586/4707	T/I	aCt/aTt		1		1	DNAH8	HGNC	HGNC:2952	protein_coding	YES	CCDS75447.1	ENSP00000333363		A0A075B6F3	UPI000179A984	NM_001206927.1	deleterious(0.03)		35/93		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF280,Pfam_domain:PF08393																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	55	38842815	38842815	C	T	1	0	0	0	0	1	0	0	0	4422	565	20	3		3	DNAH8	6	38842815	Missense_Mutation	SNP	C	C3N-00556_TP	6622570	38842815	131963164	163	17517											
TMEM63B	0	.	GRCh38	chr6	44136352	44136352	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctccctcacccccagtgtGgcttcagctatgcacgggga	7	9	10	15	1	3	0	2	0	1	0	4	1	3	1	3	3	2	3	3	3	1	2	rs199751940		C3N-00556_TP	C3N-00556_NB	G	G																c.282G>T	p.=	p.V94V	ENST00000259746	5/24	140	115	25	114	114	0	strelka-varscan	TMEM63B,synonymous_variant,p.=,ENST00000259746,NM_001318792.1;TMEM63B,synonymous_variant,p.=,ENST00000323267,NM_018426.1;TMEM63B,synonymous_variant,p.=,ENST00000371893,;TMEM63B,synonymous_variant,p.=,ENST00000532634,;TMEM63B,upstream_gene_variant,,ENST00000527188,;TMEM63B,non_coding_transcript_exon_variant,,ENST00000534326,;TMEM63B,non_coding_transcript_exon_variant,,ENST00000525294,;TMEM63B,upstream_gene_variant,,ENST00000533121,;TMEM63B,upstream_gene_variant,,ENST00000525873,;TMEM63B,upstream_gene_variant,,ENST00000497371,;	T	ENST00000259746	Transcript	synonymous_variant	465/3318	282/2499	94/832	V	gtG/gtT	rs199751940	1		1	TMEM63B	HGNC	HGNC:17735	protein_coding	YES	CCDS34461.1	ENSP00000259746	Q5T3F8		UPI000020DDEE	NM_001318792.1			5/24		hmmpanther:PTHR13018:SF38,hmmpanther:PTHR13018																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	44136352	44136352	G	T	1	0	0	0	0	0	0	0	1	16667	1362	47	2		2	TMEM63B	6	44136352	Silent	SNP	G	C3N-00556_TP	5293537	44136352	126669627	164	17518											
TTK	0	.	GRCh38	chr6	80039746	80039746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtattttgtactatatGacttacgggaaaacaccatt	13	14	8	6	1	0	1	0	1	0	0	0	3	0	3	1	2	3	2	1	2	7	8	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2181G>T	p.Met727Ile	p.M727I	ENST00000369798	19/22	139	124	15	141	141	0	strelka-varscan-mutect	TTK,missense_variant,p.Met726Ile,ENST00000509894,;TTK,missense_variant,p.Met726Ile,ENST00000230510,NM_001166691.1;TTK,missense_variant,p.Met727Ile,ENST00000369798,NM_003318.4;TTK,non_coding_transcript_exon_variant,,ENST00000504590,;	T	ENST00000369798	Transcript	missense_variant	2292/3010	2181/2574	727/857	M/I	atG/atT		1		1	TTK	HGNC	HGNC:12401	protein_coding	YES	CCDS4993.1	ENSP00000358813	P33981		UPI0000073C7B	NM_003318.4	deleterious(0.02)		19/22		PROSITE_profiles:PS50011,hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF21,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	80039746	80039746	G	T	1	0	0	0	0	1	0	0	0	17232	1290	45	2		2	TTK	6	80039746	Missense_Mutation	SNP	G	C3N-00556_TP	35903394	80039746	90766233	165	17519											
BCKDHB	0	.	GRCh38	chr6	80203164	80203164	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggagtgtcttgtgaagtCattgatctgaggactataat	10	15	11	5	0	3	3	1	3	2	0	3	5	3	5	0	2	0	0	0	2	3	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.903C>A	p.=	p.V301V	ENST00000320393	8/10	272	242	30	338	336	2	strelka-varscan-mutect	BCKDHB,synonymous_variant,p.=,ENST00000320393,NM_001318975.1,NM_183050.2;BCKDHB,synonymous_variant,p.=,ENST00000356489,NM_000056.3;BCKDHB,non_coding_transcript_exon_variant,,ENST00000468520,;	A	ENST00000320393	Transcript	synonymous_variant	950/3692	903/1179	301/392	V	gtC/gtA		1		1	BCKDHB	HGNC	HGNC:987	protein_coding	YES	CCDS4994.1	ENSP00000318351	P21953	A0A140VKB3	UPI0000001C97	NM_001318975.1,NM_183050.2			8/10		Gene3D:3.40.50.920,Pfam_domain:PF02780,hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF21,Superfamily_domains:SSF52922																	LOW	1	SNV	1			1										PASS		rs1163904802	.												A	2	1	55	80203164	80203164	C	A	1	0	0	0	0	0	0	0	1	1507	813	29	2		2	BCKDHB	6	80203164	Silent	SNP	C	C3N-00556_TP	163418	80203164	90602815	166	17520											
AIM1	0	.	GRCh38	chr6	106558516	106558516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccaacaattattctctttGaaagagaagacttcaaagga	18	10	6	7	0	2	3	1	1	1	2	3	5	2	4	1	1	2	0	1	1	7	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.4522G>C	p.Glu1508Gln	p.E1508Q	ENST00000369066	16/20	71	65	6	119	119	0	strelka-varscan-mutect	AIM1,missense_variant,p.Glu1916Gln,ENST00000633556,;AIM1,missense_variant,p.Glu1508Gln,ENST00000369066,NM_001624.3;AIM1,downstream_gene_variant,,ENST00000457437,;	C	ENST00000369066	Transcript	missense_variant	5009/7553	4522/5172	1508/1723	E/Q	Gaa/Caa		1		1	AIM1	HGNC	HGNC:356	protein_coding	YES	CCDS34506.1	ENSP00000358062	Q9Y4K1		UPI000013C91D	NM_001624.3	deleterious(0.01)		16/20		PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF2,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	106558516	106558516	G	C	1	0	0	0	0	1	0	0	0	507	1291	45	4		4	AIM1	6	106558516	Missense_Mutation	SNP	G	C3N-00556_TP	26355352	106558516	64247463	167	17521											
TRDN	0	.	GRCh38	chr6	123331909	123331909	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagggaagctggaactttctCttctttccctttaataggtt	8	17	8	8	0	2	0	0	0	2	0	4	2	3	2	1	3	2	2	1	3	5	8	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1441G>C	p.Glu481Gln	p.E481Q	ENST00000334268	23/41	70	65	5	96	96	0	strelka-varscan	TRDN,missense_variant,p.Glu481Gln,ENST00000334268,NM_006073.3;	G	ENST00000334268	Transcript	missense_variant	1759/4770	1441/2190	481/729	E/Q	Gag/Cag		1		-1	TRDN	HGNC	HGNC:12261	protein_coding	YES	CCDS55053.1	ENSP00000333984	Q13061		UPI0000D820CC	NM_006073.3	deleterious_low_confidence(0)		23/41		hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	123331909	123331909	C	G	1	0	0	0	0	1	0	0	0	16957	922	32	4		4	TRDN	6	123331909	Missense_Mutation	SNP	C	C3N-00556_TP	16773393	123331909	47474070	168	17522											
LAMA2	0	.	GRCh38	chr6	129250125	129250125	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttgtagctcccagcagtagGaggacagttgacatttacca	11	10	10	10	0	0	1	0	1	0	0	1	3	1	3	2	2	3	5	2	2	3	6	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1796G>C	p.Gly599Ala	p.G599A	ENST00000421865	13/65	310	292	18	403	403	0	strelka-varscan	LAMA2,missense_variant,p.Gly599Ala,ENST00000618192,;LAMA2,missense_variant,p.Gly599Ala,ENST00000617695,;LAMA2,missense_variant,p.Gly599Ala,ENST00000421865,NM_001079823.1,NM_000426.3;	C	ENST00000421865	Transcript	missense_variant	1845/9640	1796/9369	599/3122	G/A	gGa/gCa		1		1	LAMA2	HGNC	HGNC:6482	protein_coding	YES	CCDS5138.1	ENSP00000400365	P24043		UPI00003673E0	NM_001079823.1,NM_000426.3	deleterious(0)		13/65		Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF291,SMART_domains:SM00281																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	55	129250125	129250125	G	C	1	0	0	0	0	1	0	0	0	8510	1174	41	4		4	LAMA2	6	129250125	Missense_Mutation	SNP	G	C3N-00556_TP	5918216	129250125	41555854	169	17523											
SHPRH	0	.	GRCh38	chr6	145924795	145924795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atataaagcttgctgggcttCagcaacttctgtattacact	11	14	7	9	0	2	0	1	0	1	0	2	0	2	0	0	1	5	5	0	1	6	7	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.3346G>A	p.Glu1116Lys	p.E1116K	ENST00000367505	17/30	157	149	8	171	171	0	strelka-varscan	SHPRH,missense_variant,p.Glu1125Lys,ENST00000629427,;SHPRH,missense_variant,p.Glu1116Lys,ENST00000367505,;SHPRH,missense_variant,p.Glu1125Lys,ENST00000438092,NM_173082.3;SHPRH,missense_variant,p.Glu1116Lys,ENST00000275233,NM_001042683.2;SHPRH,3_prime_UTR_variant,,ENST00000367503,;SHPRH,3_prime_UTR_variant,,ENST00000433355,;SHPRH,3_prime_UTR_variant,,ENST00000519632,;SHPRH,non_coding_transcript_exon_variant,,ENST00000523276,;	T	ENST00000367505	Transcript	missense_variant	3611/7201	3346/5052	1116/1683	E/K	Gaa/Aaa		1		-1	SHPRH	HGNC	HGNC:19336	protein_coding	YES	CCDS43513.2	ENSP00000356475	Q149N8		UPI0000458A24		tolerated(0.06)		17/30																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	55	145924795	145924795	C	T	1	0	0	0	0	1	0	0	0	14554	835	29	3		3	SHPRH	6	145924795	Missense_Mutation	SNP	C	C3N-00556_TP	16674670	145924795	24881184	170	17524											
SCAF8	0	.	GRCh38	chr6	154808079	154808079	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttctcaataggccactcctCaggatagtcaggaaggaacc	12	8	10	11	0	3	0	3	0	1	0	5	3	4	3	3	4	1	1	3	4	5	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1225C>G	p.Gln409Glu	p.Q409E	ENST00000417268	11/21	127	120	7	142	142	0	strelka-varscan	SCAF8,missense_variant,p.Gln331Glu,ENST00000367178,NM_001286199.1,NM_014892.4;SCAF8,missense_variant,p.Gln409Glu,ENST00000417268,NM_001286188.1,NM_001286194.1;SCAF8,missense_variant,p.Gln397Glu,ENST00000367186,NM_001286189.1;	G	ENST00000417268	Transcript	missense_variant	1270/4944	1225/4050	409/1349	Q/E	Cag/Gag		1		1	SCAF8	HGNC	HGNC:20959	protein_coding	YES	CCDS75541.1	ENSP00000413098		A0A0A0MT33	UPI0003BD245C	NM_001286188.1,NM_001286194.1	tolerated(1)		11/21																			MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	55	154808079	154808079	C	G	1	0	0	0	0	1	0	0	0	14135	827	29	4		4	SCAF8	6	154808079	Missense_Mutation	SNP	C	C3N-00556_TP	8883284	154808079	15997900	171	17525											
C6orf118	0	.	GRCh38	chr6	165298052	165298052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcgagatccatgtccGccgtcttcaccggcctctgc	4	9	10	18	4	3	1	1	0	2	1	5	2	5	1	6	2	1	0	6	2	0	1	rs768763065		C3N-00556_TP	C3N-00556_NB	G	G																c.986C>T	p.Ala329Val	p.A329V	ENST00000230301	5/9	96	88	8	99	99	0	strelka-varscan	C6orf118,missense_variant,p.Ala329Val,ENST00000230301,NM_144980.3;C6orf118,upstream_gene_variant,,ENST00000494696,;	A	ENST00000230301	Transcript	missense_variant	1007/1812	986/1410	329/469	A/V	gCg/gTg	rs768763065,COSM1487450,COSM4812784	1		-1	C6orf118	HGNC	HGNC:21233	protein_coding	YES	CCDS5288.1	ENSP00000230301	Q5T5N4		UPI0000367401	NM_144980.3	tolerated(0.07)		5/9		hmmpanther:PTHR34916,Pfam_domain:PF15739											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		.	.												A	3	1	55	165298052	165298052	G	A	1	0	0	0	0	1	0	0	0	2115	1087	38	1		1	C6orf118	6	165298052	Missense_Mutation	SNP	G	C3N-00556_TP	10489973	165298052	5507927	172	17526											
C6orf118	0	.	GRCh38	chr6	165301788	165301788	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcaccttcaagtcgggcagCcggagttcttccctcctgcg	6	9	11	15	3	2	0	1	0	1	0	5	1	4	1	4	2	3	3	4	2	1	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.534G>T	p.=	p.R178R	ENST00000230301	2/9	113	101	12	134	134	0	strelka-varscan	C6orf118,synonymous_variant,p.=,ENST00000230301,NM_144980.3;	A	ENST00000230301	Transcript	synonymous_variant	555/1812	534/1410	178/469	R	cgG/cgT		1		-1	C6orf118	HGNC	HGNC:21233	protein_coding	YES	CCDS5288.1	ENSP00000230301	Q5T5N4		UPI0000367401	NM_144980.3			2/9		Low_complexity_(Seg):seg,hmmpanther:PTHR34916																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	165301788	165301788	C	A	1	0	0	0	0	0	0	0	1	2115	726	26	2		2	C6orf118	6	165301788	Silent	SNP	C	C3N-00556_TP	3736	165301788	5504191	173	17527											
TTLL2	0	.	GRCh38	chr6	167340156	167340156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcaggggccctcttgaagCcgctggtttttcgcgttgac	4	13	12	12	3	2	2	1	2	1	0	3	2	2	2	2	3	1	3	2	3	1	5			C3N-00556_TP	C3N-00556_NB	C	C																c.256C>A	p.Pro86Thr	p.P86T	ENST00000239587	3/3	60	51	9	81	81	0	strelka-varscan	TTLL2,missense_variant,p.Pro86Thr,ENST00000239587,NM_031949.4;TTLL2,missense_variant,p.Pro86Thr,ENST00000515138,;TTLL2,downstream_gene_variant,,ENST00000512917,;	A	ENST00000239587	Transcript	missense_variant	344/2075	256/1779	86/592	P/T	Ccg/Acg	COSM741147	1		1	TTLL2	HGNC	HGNC:21211	protein_coding	YES	CCDS5301.1	ENSP00000239587	Q9BWV7		UPI00001A3A8B	NM_031949.4	deleterious(0.02)		3/3		PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF11											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	55	167340156	167340156	C	A	1	0	0	0	0	1	0	0	0	17238	739	26	2		2	TTLL2	6	167340156	Missense_Mutation	SNP	C	C3N-00556_TP	2038368	167340156	3465823	174	17528											
TCTE3	0	.	GRCh38	chr6	169751448	169751448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgacttcacgcctcggcctCgcttctccatctcgctctgt	3	13	7	18	5	4	0	1	0	3	0	9	1	4	0	3	1	0	2	3	1	0	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.11G>A	p.Arg4Gln	p.R4Q	ENST00000366774	1/4	124	109	15	174	174	0	strelka-varscan	TCTE3,missense_variant,p.Arg4Gln,ENST00000366774,NM_174910.1;ERMARD,upstream_gene_variant,,ENST00000588451,;ERMARD,upstream_gene_variant,,ENST00000366773,NM_018341.2;ERMARD,upstream_gene_variant,,ENST00000366772,NM_001278531.1;ERMARD,upstream_gene_variant,,ENST00000392095,NM_001278532.1;ERMARD,upstream_gene_variant,,ENST00000418781,NM_001278533.1;ERMARD,upstream_gene_variant,,ENST00000590711,;ERMARD,upstream_gene_variant,,ENST00000592745,;ERMARD,upstream_gene_variant,,ENST00000592367,;ERMARD,upstream_gene_variant,,ENST00000588437,;ERMARD,upstream_gene_variant,,ENST00000586341,;TCTE3,non_coding_transcript_exon_variant,,ENST00000628156,;ERMARD,upstream_gene_variant,,ENST00000592580,;ERMARD,upstream_gene_variant,,ENST00000592315,;ERMARD,upstream_gene_variant,,ENST00000590017,;	T	ENST00000366774	Transcript	missense_variant	112/769	11/597	4/198	R/Q	cGa/cAa		1		-1	TCTE3	HGNC	HGNC:11695	protein_coding	YES	CCDS5310.1	ENSP00000355736	Q8IZS6		UPI0000061E54	NM_174910.1	deleterious_low_confidence(0.01)		1/4																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	169751448	169751448	C	T	1	0	0	0	0	1	0	0	0	16126	884	31	1		1	TCTE3	6	169751448	Missense_Mutation	SNP	C	C3N-00556_TP	2411292	169751448	1054531	175	17529											
DNAAF5	0	.	GRCh38	chr7	763928	763928	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaccttgactggaccgcAcactcgccggagctcctgca	7	7	10	17	4	0	1	0	1	0	0	3	3	1	3	4	2	2	4	4	2	0	1	novel		C3N-00556_TP	C3N-00556_NB	A	A																c.1737A>C	p.=	p.A579A	ENST00000297440	8/13	315	257	58	276	274	2	strelka-varscan-mutect	DNAAF5,synonymous_variant,p.=,ENST00000297440,NM_017802.3;DNAAF5,synonymous_variant,p.=,ENST00000440747,;DNAAF5,upstream_gene_variant,,ENST00000403952,;DNAAF5,non_coding_transcript_exon_variant,,ENST00000491496,;	C	ENST00000297440	Transcript	synonymous_variant	1757/3410	1737/2568	579/855	A	gcA/gcC		1		1	DNAAF5	HGNC	HGNC:26013	protein_coding	YES	CCDS34580.1	ENSP00000297440	Q86Y56		UPI0000D61BE2	NM_017802.3			8/13		Gene3D:1.25.10.10,hmmpanther:PTHR16216,hmmpanther:PTHR16216:SF2,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	55	763928	763928	A	C	1	0	0	0	0	0	0	0	1	4409	146	6	5		5	DNAAF5	7	763928	Silent	SNP	A	C3N-00556_TP		763928	158582045	176	17530											
ZFAND2A	0	.	GRCh38	chr7	1153205	1153205	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcttgcagccctcttttGagcaacggtatgtaaaaatc	10	14	7	10	1	3	1	0	1	3	0	4	1	3	1	1	1	4	4	1	1	5	6	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.302C>G	p.Ser101Ter	p.S101*	ENST00000316495	5/5	135	126	9	140	140	0	strelka-varscan-mutect	ZFAND2A,stop_gained,p.Ser101Ter,ENST00000401903,;ZFAND2A,stop_gained,p.Ser101Ter,ENST00000316495,NM_182491.2;ZFAND2A,missense_variant,p.Gln107Glu,ENST00000397083,;ZFAND2A,intron_variant,,ENST00000574135,;ZFAND2A,non_coding_transcript_exon_variant,,ENST00000471448,;ZFAND2A,downstream_gene_variant,,ENST00000484977,;	C	ENST00000316495	Transcript	stop_gained	562/860	302/438	101/145	S/*	tCa/tGa		1		-1	ZFAND2A	HGNC	HGNC:28073	protein_coding	YES	CCDS5323.1	ENSP00000314619	Q8N6M9		UPI000013FDD5	NM_182491.2			5/5		PROSITE_profiles:PS51039,hmmpanther:PTHR14677:SF11,hmmpanther:PTHR14677,Pfam_domain:PF01428,Gene3D:4.10.1110.10,SMART_domains:SM00154,Superfamily_domains:SSF118310																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	55	1153205	1153205	G	C	1	0	0	0	0	0	1	0	0	18203	1294	45	4		4	ZFAND2A	7	1153205	Nonsense_Mutation	SNP	G	C3N-00556_TP	389277	1153205	158192768	177	17531											
CARD11	0	.	GRCh38	chr7	2928687	2928687	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacatgatgctgctgcggctCcgggggggctgcttcagaca	6	8	16	11	2	1	2	1	1	0	1	2	3	2	2	1	4	4	5	1	4	0	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1665G>A	p.=	p.R555R	ENST00000396946	13/25	168	145	23	135	135	0	strelka-varscan-mutect	CARD11,synonymous_variant,p.=,ENST00000396946,NM_001324281.1,NM_032415.5;CARD11,synonymous_variant,p.=,ENST00000355508,;	T	ENST00000396946	Transcript	synonymous_variant	2069/4366	1665/3465	555/1154	R	cgG/cgA		1		-1	CARD11	HGNC	HGNC:16393	protein_coding	YES	CCDS5336.2	ENSP00000380150	Q9BXL7	A0A024R854	UPI00003FED38	NM_001324281.1,NM_032415.5			13/25																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	2928687	2928687	C	T	1	0	0	0	0	0	0	0	1	2340	842	30	3		3	CARD11	7	2928687	Silent	SNP	C	C3N-00556_TP	1775482	2928687	156417286	178	17532											
ISPD	0	.	GRCh38	chr7	16091696	16091696	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtaattttttgtgttcttCatgctatcagaagctgacca	10	16	8	7	0	3	2	2	1	1	1	3	2	3	2	1	1	2	4	1	1	3	7	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1355G>A	p.=	p.*452*	ENST00000407010	10/10	185	175	10	253	253	0	strelka-varscan-mutect	ISPD,stop_retained_variant,p.=,ENST00000407010,NM_001101426.3;ISPD,stop_retained_variant,p.=,ENST00000399310,NM_001101417.3;	T	ENST00000407010	Transcript	stop_retained_variant	1355/5524	1355/1356	452/451	*	tGa/tAa		1		-1	ISPD	HGNC	HGNC:37276	protein_coding	YES		ENSP00000385478	A4D126		UPI00015CFC06	NM_001101426.3			10/10																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	55	16091696	16091696	C	T	1	0	0	0	0	0	0	0	1	7771	837	29	3		3	ISPD	7	16091696	Silent	SNP	C	C3N-00556_TP	13163009	16091696	143254277	179	17533											
SP8	0	.	GRCh38	chr7	20785425	20785427	+	In_Frame_Del	DEL	GCG	GCG	-																															gcgagctggaggcggcggctGcggcggcggcggcggcggct																								rs770823639		C3N-00556_TP	C3N-00556_NB	GCG	GCG																c.390_392delCGC	p.Ala134del	p.A134del	ENST00000418710	2/2	60	50	10	51	51	0	sindel-varindel	SP8,inframe_deletion,p.Ala116del,ENST00000361443,NM_198956.3;SP8,inframe_deletion,p.Ala134del,ENST00000418710,NM_182700.5;SP8,intron_variant,,ENST00000617581,;	-	ENST00000418710	Transcript	inframe_deletion	478-480/1618	390-392/1527	130-131/508	AA/A	gcCGCa/gca	rs770823639,COSM5546669,COSM5546670	1		-1	SP8	HGNC	HGNC:19196	protein_coding	YES	CCDS43555.1	ENSP00000408792	Q8IXZ3		UPI00001AADF2	NM_182700.5			2/2		Low_complexity_(Seg):seg											0,1,1						MODERATE	1	deletion	1		0,1,1	1										PASS		.	.												-	7	5	55	20785425	20785425	GCG	-	1	0	1	0	1	0	0	0	0	15296	1319	46	0		0	SP8	7	20785425	In_Frame_Del	DEL	GCG	C3N-00556_TP	4693729	20785425	138560548	180	17534											
SP4	0	.	GRCh38	chr7	21429901	21429901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccactgcagttacagactCttcctggtactcaggctcaa	10	11	7	13	0	3	1	2	0	1	1	4	1	4	1	2	2	4	4	2	2	4	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.736C>T	p.Leu246Phe	p.L246F	ENST00000222584	3/6	265	249	16	307	306	1	strelka-varscan-mutect	SP4,missense_variant,p.Leu246Phe,ENST00000222584,NM_001326542.1,NM_001326543.1,NM_003112.3;SP4,intron_variant,,ENST00000432066,;SP4,intron_variant,,ENST00000448246,;SP4,downstream_gene_variant,,ENST00000440636,;	T	ENST00000222584	Transcript	missense_variant	954/6126	736/2355	246/784	L/F	Ctt/Ttt		1		1	SP4	HGNC	HGNC:11209	protein_coding	YES	CCDS5373.1	ENSP00000222584	Q02446		UPI000013C807	NM_001326542.1,NM_001326543.1,NM_003112.3	tolerated(0.69)		3/6		hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	21429901	21429901	C	T	1	0	0	0	0	1	0	0	0	15292	913	32	3		3	SP4	7	21429901	Missense_Mutation	SNP	C	C3N-00556_TP	644476	21429901	137916072	181	17535											
NEUROD6	0	.	GRCh38	chr7	31339115	31339115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttctcggtttcttctccagGggcccttttgatgctctttc	2	19	8	12	1	4	1	0	1	4	0	7	1	4	1	2	3	1	2	2	3	0	6	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.154C>T	p.Pro52Ser	p.P52S	ENST00000297142	2/2	428	351	77	419	419	0	strelka-varscan	NEUROD6,missense_variant,p.Pro52Ser,ENST00000297142,NM_022728.3;	A	ENST00000297142	Transcript	missense_variant	477/2131	154/1014	52/337	P/S	Cct/Tct		1		-1	NEUROD6	HGNC	HGNC:13804	protein_coding	YES	CCDS5434.1	ENSP00000297142	Q96NK8	A0A090N7T3	UPI000000D77D	NM_022728.3	tolerated(0.74)		2/2		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19290:SF9,hmmpanther:PTHR19290,PIRSF_domain:PIRSF015618																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	31339115	31339115	G	A	1	0	0	0	0	1	0	0	0	10388	1232	43	3		3	NEUROD6	7	31339115	Missense_Mutation	SNP	G	C3N-00556_TP	9909214	31339115	128006858	182	17536											
KIAA0895	0	.	GRCh38	chr7	36335079	36335079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcattccctccagccaatGctcacgtgcagtggacacat	10	8	8	15	1	1	0	1	0	0	0	3	1	3	1	3	1	4	3	3	1	1	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.967C>T	p.His323Tyr	p.H323Y	ENST00000297063	4/7	184	153	31	188	187	1	strelka-varscan	KIAA0895,missense_variant,p.His272Tyr,ENST00000317020,NM_015314.2;KIAA0895,missense_variant,p.His323Tyr,ENST00000297063,NM_001100425.1;KIAA0895,missense_variant,p.His310Tyr,ENST00000338533,NM_001199707.1;KIAA0895,missense_variant,p.His320Tyr,ENST00000440378,NM_001199706.1;KIAA0895,missense_variant,p.His220Tyr,ENST00000436884,NM_001199708.1;KIAA0895,missense_variant,p.His78Tyr,ENST00000453212,NM_001300956.1;KIAA0895,missense_variant,p.His78Tyr,ENST00000431396,;Y_RNA,downstream_gene_variant,,ENST00000364562,;KIAA0895,non_coding_transcript_exon_variant,,ENST00000480192,;KIAA0895,non_coding_transcript_exon_variant,,ENST00000483526,;KIAA0895,non_coding_transcript_exon_variant,,ENST00000483360,;	A	ENST00000297063	Transcript	missense_variant	1018/4153	967/1563	323/520	H/Y	Cat/Tat		1		-1	KIAA0895	HGNC	HGNC:22206	protein_coding	YES	CCDS43570.1	ENSP00000297063	Q8NCT3		UPI000013E3C0	NM_001100425.1	tolerated(0.23)		4/7		Pfam_domain:PF08014,hmmpanther:PTHR31817,hmmpanther:PTHR31817:SF3,SMART_domains:SM01154																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	36335079	36335079	G	A	1	0	0	0	0	1	0	0	0	8092	1319	46	3		3	KIAA0895	7	36335079	Missense_Mutation	SNP	G	C3N-00556_TP	4995964	36335079	123010894	183	17537											
AOAH	0	.	GRCh38	chr7	36532192	36532192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttggaagacatccagccGtggcaggggctgacctgaga	9	8	15	9	1	0	3	0	2	0	2	1	5	1	4	3	4	1	3	3	4	1	2	rs768364625		C3N-00556_TP	C3N-00556_NB	G	G																c.1380C>T	p.=	p.H460H	ENST00000617267	18/22	310	254	56	343	343	0	strelka-varscan	AOAH,synonymous_variant,p.=,ENST00000617267,NM_001177506.1;AOAH,synonymous_variant,p.=,ENST00000617537,NM_001637.3;AOAH,synonymous_variant,p.=,ENST00000612871,NM_001177507.1;AOAH,non_coding_transcript_exon_variant,,ENST00000491444,;AOAH,downstream_gene_variant,,ENST00000487014,;AOAH,upstream_gene_variant,,ENST00000614254,;AOAH,downstream_gene_variant,,ENST00000495942,;	A	ENST00000617267	Transcript	synonymous_variant	1681/2398	1380/2067	460/688	H	caC/caT	rs768364625,COSM236992	1		-1	AOAH	HGNC	HGNC:548	protein_coding	YES	CCDS75584.1	ENSP00000479664		A0A087WVT3	UPI0001D043BB	NM_001177506.1			18/22		Pfam_domain:PF00657,hmmpanther:PTHR15010											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												A	2	1	55	36532192	36532192	G	A	1	0	0	0	0	0	0	0	1	835	1136	40	1		1	AOAH	7	36532192	Silent	SNP	G	C3N-00556_TP	197113	36532192	122813781	184	17538											
AMPH	0	.	GRCh38	chr7	38534943	38534943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactcacttcttgccgtttGaagttctggacatattcttc	7	16	8	10	1	4	1	1	1	3	0	5	3	4	3	1	2	1	2	1	2	2	7	rs140832560		C3N-00556_TP	C3N-00556_NB	G	G																c.138C>T	p.=	p.F46F	ENST00000356264	2/21	203	192	11	230	230	0	strelka-varscan	AMPH,synonymous_variant,p.=,ENST00000356264,NM_001635.3;AMPH,synonymous_variant,p.=,ENST00000325590,NM_139316.2;RN7SL83P,upstream_gene_variant,,ENST00000468131,;	A	ENST00000356264	Transcript	synonymous_variant	354/3418	138/2088	46/695	F	ttC/ttT	rs140832560,COSM3229284,COSM3638575	1		-1	AMPH	HGNC	HGNC:471	protein_coding	YES	CCDS5456.1	ENSP00000348602	P49418		UPI00001259EA	NM_001635.3			2/21		Gene3D:1.20.1270.60,Pfam_domain:PF03114,PROSITE_profiles:PS51021,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF211,SMART_domains:SM00721,Superfamily_domains:SSF103657											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		.	.												A	2	1	55	38534943	38534943	G	A	1	0	0	0	0	0	0	0	1	686	1281	45	3		3	AMPH	7	38534943	Silent	SNP	G	C3N-00556_TP	2002751	38534943	120811030	185	17539											
COA1	0	.	GRCh38	chr7	43640633	43640633	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccctctgatttggatccaGagacaggaatcttcaactgt	10	11	10	10	0	3	2	1	1	2	1	4	5	4	4	2	3	1	0	2	3	2	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.281C>G	p.Ser94Cys	p.S94C	ENST00000395879	4/5	152	143	9	180	180	0	strelka-varscan	COA1,missense_variant,p.Ser94Cys,ENST00000395879,;COA1,missense_variant,p.Ser94Cys,ENST00000310564,NM_001321197.1;COA1,missense_variant,p.Ser94Cys,ENST00000223336,NM_001321201.1,NM_018224.3;COA1,missense_variant,p.Ser94Cys,ENST00000415798,;COA1,downstream_gene_variant,,ENST00000431651,;COA1,non_coding_transcript_exon_variant,,ENST00000488813,;COA1,missense_variant,p.Ser94Cys,ENST00000438444,;COA1,missense_variant,p.Ser94Cys,ENST00000415076,;COA1,missense_variant,p.Ser94Cys,ENST00000446330,;COA1,missense_variant,p.Ser94Cys,ENST00000446564,;COA1,non_coding_transcript_exon_variant,,ENST00000490251,;	C	ENST00000395879	Transcript	missense_variant	1963/2448	281/441	94/146	S/C	tCt/tGt		1		-1	COA1	HGNC	HGNC:21868	protein_coding	YES	CCDS5471.1	ENSP00000379218	Q9GZY4	A0A024RA60	UPI000006E8D7		deleterious(0.04)		4/5		hmmpanther:PTHR10768,Pfam_domain:PF08695																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	43640633	43640633	G	C	1	0	0	0	0	1	0	0	0	3435	942	33	4		4	COA1	7	43640633	Missense_Mutation	SNP	G	C3N-00556_TP	5105690	43640633	115705340	186	17540											
TBRG4	0	.	GRCh38	chr7	45109072	45109072	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcgttccttctccaccggctCcatcaaggaacctgggaggt	7	10	10	14	2	2	0	1	0	1	0	6	2	4	2	5	4	1	2	5	4	2	2	rs771152697		C3N-00556_TP	C3N-00556_NB	C	C																c.166G>C	p.Glu56Gln	p.E56Q	ENST00000258770	2/11	163	134	29	135	135	0	strelka-varscan	TBRG4,missense_variant,p.Glu56Gln,ENST00000258770,NM_004749.3;TBRG4,missense_variant,p.Glu56Gln,ENST00000395655,;TBRG4,missense_variant,p.Glu56Gln,ENST00000494076,NM_001261834.1;TBRG4,missense_variant,p.Glu56Gln,ENST00000361278,NM_030900.3,NM_199122.2;TBRG4,missense_variant,p.Glu56Gln,ENST00000478532,;TBRG4,missense_variant,p.Glu2Gln,ENST00000461363,;TBRG4,missense_variant,p.Glu56Gln,ENST00000475893,;TBRG4,missense_variant,p.Glu56Gln,ENST00000495078,;TBRG4,missense_variant,p.Glu56Gln,ENST00000482285,;TBRG4,upstream_gene_variant,,ENST00000483615,;SNORA5C,upstream_gene_variant,,ENST00000364902,;SNORA5A,upstream_gene_variant,,ENST00000384111,;SNORA5B,upstream_gene_variant,,ENST00000363786,;TBRG4,non_coding_transcript_exon_variant,,ENST00000471142,;TBRG4,upstream_gene_variant,,ENST00000495973,;TBRG4,upstream_gene_variant,,ENST00000488222,;TBRG4,upstream_gene_variant,,ENST00000484326,;TBRG4,upstream_gene_variant,,ENST00000477328,;	G	ENST00000258770	Transcript	missense_variant	288/2243	166/1896	56/631	E/Q	Gag/Cag	rs771152697	1		-1	TBRG4	HGNC	HGNC:17443	protein_coding	YES	CCDS5501.1	ENSP00000258770	Q969Z0		UPI0000071F89	NM_004749.3	tolerated(0.21)		2/11		hmmpanther:PTHR21228,hmmpanther:PTHR21228:SF26																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	45109072	45109072	C	G	1	0	0	0	0	1	0	0	0	16054	864	30	4		4	TBRG4	7	45109072	Missense_Mutation	SNP	C	C3N-00556_TP	1468439	45109072	114236901	187	17541											
TYW1B	0	.	GRCh38	chr7	72694687	72694687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagatgtcataattcttacCttgactgccaaggcttttaa	12	15	6	8	0	2	2	1	1	1	1	2	2	2	2	2	1	2	1	2	1	5	7	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1506G>T	p.Lys502Asn	p.K502N	ENST00000620995	11/14	92	77	15	78	78	0	strelka-varscan	TYW1B,missense_variant,p.Lys502Asn,ENST00000620995,NM_001145440.2;TYW1B,missense_variant,p.Lys340Asn,ENST00000612372,;MIR4650-2,upstream_gene_variant,,ENST00000581927,;	A	ENST00000620995	Transcript	missense_variant,splice_region_variant	1629/3113	1506/2007	502/668	K/N	aaG/aaT		1		-1	TYW1B	HGNC	HGNC:33908	protein_coding	YES	CCDS69309.1	ENSP00000482502		A0A087WZB2	UPI000178DF1B	NM_001145440.2	deleterious(0)		11/14		Gene3D:3.20.20.70,Pfam_domain:PF04055,hmmpanther:PTHR13930,Superfamily_domains:SSF102114																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	72694687	72694687	C	A	1	0	0	0	0	1	0	0	0	17334	695	24	2		2	TYW1B	7	72694687	Missense_Mutation	SNP	C	C3N-00556_TP	27585615	72694687	86651286	188	17542											
GATSL2	0	.	GRCh38	chr7	75020092	75020092	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cggccacatccgcttcttctCcttctccctcatcgagggct	4	12	7	18	3	4	0	1	0	3	0	8	1	5	0	4	2	0	2	4	2	0	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.689C>G	p.Ser230Cys	p.S230C	ENST00000616305	6/9	343	299	44	255	255	0	strelka-varscan	GATSL2,missense_variant,p.Ser230Cys,ENST00000616305,NM_001145064.2;GATSL2,non_coding_transcript_exon_variant,,ENST00000622472,;	G	ENST00000616305	Transcript	missense_variant	857/1257	689/990	230/329	S/C	tCc/tGc		1		1	GATSL2	HGNC	HGNC:37073	protein_coding	YES	CCDS75620.1	ENSP00000484732	A6NHX0		UPI000013F134	NM_001145064.2	deleterious(0.01)		6/9		hmmpanther:PTHR31131,hmmpanther:PTHR31131:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	75020092	75020092	C	G	1	0	0	0	0	1	0	0	0	6136	855	30	4		4	GATSL2	7	75020092	Missense_Mutation	SNP	C	C3N-00556_TP	2325405	75020092	84325881	189	17543											
CACNA2D1	0	.	GRCh38	chr7	81967608	81967608	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttaccggatctctgatTgaggttttggtgaaattctc	8	17	9	7	1	3	3	0	3	3	0	5	4	3	4	1	3	1	1	1	3	3	6	novel		C3N-00556_TP	C3N-00556_NB	T	T																c.2451A>G	p.=	p.S817S	ENST00000356860	30/39	83	72	11	110	110	0	strelka-varscan	CACNA2D1,synonymous_variant,p.=,ENST00000356860,NM_000722.3;CACNA2D1,synonymous_variant,p.=,ENST00000356253,;CACNA2D1,downstream_gene_variant,,ENST00000443883,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000486539,;CACNA2D1,upstream_gene_variant,,ENST00000469297,;	C	ENST00000356860	Transcript	synonymous_variant	2790/7563	2451/3276	817/1091	S	tcA/tcG		1		-1	CACNA2D1	HGNC	HGNC:1399	protein_coding	YES	CCDS5598.1	ENSP00000349320	P54289		UPI00003674CD	NM_000722.3			30/39		Pfam_domain:PF08473,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	55	81967608	81967608	T	C	1	0	0	0	0	0	0	0	1	2236	1799	63	5		5	CACNA2D1	7	81967608	Silent	SNP	T	C3N-00556_TP	6947516	81967608	77378365	190	17544											
CACNA2D1	0	.	GRCh38	chr7	82117091	82117091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggactgctgcgtgctgataaGatatttgtcgtccaaaatta	11	13	10	7	2	0	2	0	1	0	1	2	3	1	3	1	1	3	2	1	1	5	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.479C>G	p.Ser160Cys	p.S160C	ENST00000356860	6/39	335	284	51	339	339	0	strelka-varscan	CACNA2D1,missense_variant,p.Ser160Cys,ENST00000356860,NM_000722.3;CACNA2D1,missense_variant,p.Ser160Cys,ENST00000356253,;CACNA2D1,missense_variant,p.Ser160Cys,ENST00000423588,NM_001302890.1;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000484706,;	C	ENST00000356860	Transcript	missense_variant	818/7563	479/3276	160/1091	S/C	tCt/tGt		1		-1	CACNA2D1	HGNC	HGNC:1399	protein_coding	YES	CCDS5598.1	ENSP00000349320	P54289		UPI00003674CD	NM_000722.3	deleterious(0)		6/39		Pfam_domain:PF08399,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	82117091	82117091	G	C	1	0	0	0	0	1	0	0	0	2236	942	33	4		4	CACNA2D1	7	82117091	Missense_Mutation	SNP	G	C3N-00556_TP	149483	82117091	77228882	191	17545											
AKAP9	0	.	GRCh38	chr7	91973738	91973738	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttcgacaaagaaaagctCagtcggatgggcagagtcct	13	8	12	8	2	1	2	1	0	0	2	4	4	2	3	1	2	1	3	1	2	3	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.76C>G	p.Gln26Glu	p.Q26E	ENST00000356239	2/50	293	277	16	334	334	0	strelka-varscan	AKAP9,missense_variant,p.Gln26Glu,ENST00000356239,NM_005751.4,NM_147185.2;AKAP9,missense_variant,p.Gln37Glu,ENST00000359028,;AKAP9,missense_variant,p.Gln26Glu,ENST00000358100,;AKAP9,missense_variant,p.Gln34Glu,ENST00000619023,;AKAP9,missense_variant,p.Gln26Glu,ENST00000394564,;AKAP9,upstream_gene_variant,,ENST00000438114,;AKAP9,non_coding_transcript_exon_variant,,ENST00000493453,;	G	ENST00000356239	Transcript	missense_variant	309/12471	76/11724	26/3907	Q/E	Cag/Gag		1		1	AKAP9	HGNC	HGNC:379	protein_coding	YES	CCDS5622.1	ENSP00000348573	Q99996		UPI000002A38D	NM_005751.4,NM_147185.2	deleterious(0.01)		2/50		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	91973738	91973738	C	G	1	0	0	0	0	1	0	0	0	543	827	29	4		4	AKAP9	7	91973738	Missense_Mutation	SNP	C	C3N-00556_TP	9856647	91973738	67372235	192	17546											
ANKIB1	0	.	GRCh38	chr7	92352598	92352598	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactcagcttcccattgctGagagctcctgctgttgattg	7	13	9	12	0	1	2	1	2	0	1	3	3	3	2	2	0	4	5	2	0	0	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1353G>A	p.=	p.L451L	ENST00000265742	9/20	156	132	24	159	159	0	strelka-varscan	ANKIB1,synonymous_variant,p.=,ENST00000265742,NM_019004.1;ANKIB1,3_prime_UTR_variant,,ENST00000413588,;	A	ENST00000265742	Transcript	synonymous_variant	1729/6081	1353/3270	451/1089	L	ctG/ctA		1		1	ANKIB1	HGNC	HGNC:22215	protein_coding	YES	CCDS47639.1	ENSP00000265742	Q9P2G1		UPI00001C1E7C	NM_019004.1			9/20		Pfam_domain:PF01485,SMART_domains:SM00647,Superfamily_domains:SSF57850																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	92352598	92352598	G	A	1	0	0	0	0	0	0	0	1	731	1277	45	3		3	ANKIB1	7	92352598	Silent	SNP	G	C3N-00556_TP	378860	92352598	66993375	193	17547											
SAMD9	0	.	GRCh38	chr7	93102822	93102822	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtccttctttttaatgtaGaaatgtcttgccaacgcttg	10	16	7	8	1	2	1	0	0	2	1	3	1	3	1	2	0	2	2	2	0	5	7	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.3276C>T	p.=	p.F1092F	ENST00000379958	3/3	307	281	26	406	406	0	strelka-varscan	SAMD9,synonymous_variant,p.=,ENST00000379958,NM_017654.3;SAMD9,synonymous_variant,p.=,ENST00000620985,NM_001193307.1;SAMD9,synonymous_variant,p.=,ENST00000446617,;	A	ENST00000379958	Transcript	synonymous_variant	3546/6852	3276/4770	1092/1589	F	ttC/ttT		1		-1	SAMD9	HGNC	HGNC:1348	protein_coding	YES	CCDS34680.1	ENSP00000369292	Q5K651		UPI0000038BC6	NM_017654.3			3/3		hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF17																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	93102822	93102822	G	A	1	0	0	0	0	0	0	0	1	14086	933	33	3		3	SAMD9	7	93102822	Silent	SNP	G	C3N-00556_TP	750224	93102822	66243151	194	17548											
COPS6	0	.	GRCh38	chr7	100091518	100091518	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttcaagacagatttttatGatgtgagtgtaaaacccgga	14	12	10	5	1	1	4	1	2	0	2	1	5	1	5	1	1	1	2	1	1	4	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.841G>C	p.Asp281His	p.D281H	ENST00000303904	9/10	136	126	10	213	213	0	strelka-varscan	COPS6,missense_variant,p.Asp281His,ENST00000303904,NM_006833.4;COPS6,missense_variant,p.Asp280His,ENST00000418625,;MCM7,downstream_gene_variant,,ENST00000621318,NM_001278595.1;MCM7,downstream_gene_variant,,ENST00000354230,NM_182776.2;MCM7,downstream_gene_variant,,ENST00000303887,NM_005916.4;MCM7,downstream_gene_variant,,ENST00000343023,;COPS6,downstream_gene_variant,,ENST00000419210,;MIR25,downstream_gene_variant,,ENST00000384816,;MIR106B,downstream_gene_variant,,ENST00000385301,;MIR93,downstream_gene_variant,,ENST00000385024,;COPS6,splice_region_variant,,ENST00000474823,;COPS6,splice_region_variant,,ENST00000426712,;MCM7,downstream_gene_variant,,ENST00000485286,;MCM7,downstream_gene_variant,,ENST00000489841,;COPS6,downstream_gene_variant,,ENST00000465027,;COPS6,downstream_gene_variant,,ENST00000472107,;COPS6,downstream_gene_variant,,ENST00000468499,;COPS6,downstream_gene_variant,,ENST00000483891,;MCM7,downstream_gene_variant,,ENST00000491245,;COPS6,downstream_gene_variant,,ENST00000496358,;MCM7,downstream_gene_variant,,ENST00000493352,;	C	ENST00000303904	Transcript	missense_variant,splice_region_variant	878/1432	841/984	281/327	D/H	Gat/Cat		1		1	COPS6	HGNC	HGNC:21749	protein_coding	YES	CCDS5682.1	ENSP00000304102	Q7L5N1		UPI000014F97E	NM_006833.4	tolerated(0.07)		9/10		hmmpanther:PTHR10540,hmmpanther:PTHR10540:SF8,Pfam_domain:PF13012																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	100091518	100091518	G	C	1	0	0	0	0	1	0	0	0	3530	1304	45	4		4	COPS6	7	100091518	Missense_Mutation	SNP	G	C3N-00556_TP	6988696	100091518	59254455	195	17549											
EPO	0	.	GRCh38	chr7	100721988	100721988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgaacactgcagcttGaatgagaatatcactgtccc	11	11	9	10	0	1	3	1	3	0	1	2	4	2	3	1	0	4	3	1	0	4	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.186G>T	p.Leu62Phe	p.L62F	ENST00000252723	3/5	183	153	30	212	211	1	strelka-varscan	EPO,missense_variant,p.Leu62Phe,ENST00000252723,NM_000799.2;	T	ENST00000252723	Transcript	missense_variant	367/1330	186/582	62/193	L/F	ttG/ttT		1		1	EPO	HGNC	HGNC:3415	protein_coding	YES	CCDS5705.1	ENSP00000252723	P01588	G9JKG7	UPI0000033477	NM_000799.2	tolerated(0.41)		3/5		hmmpanther:PTHR10370,Pfam_domain:PF00758,PIRSF_domain:PIRSF001951,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266,Prints_domain:PR00272																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	100721988	100721988	G	T	1	0	0	0	0	1	0	0	0	5035	1281	45	2		2	EPO	7	100721988	Missense_Mutation	SNP	G	C3N-00556_TP	630470	100721988	58623985	196	17550											
MYL10	0	.	GRCh38	chr7	101623061	101623061	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatcacggttctggtccatGatggtgaaagcctggcagag	9	9	13	10	1	2	3	1	2	1	1	3	3	3	3	3	4	1	2	3	4	1	1	rs779412213		C3N-00556_TP	C3N-00556_NB	G	G																c.285C>G	p.Ile95Met	p.I95M	ENST00000223167	4/8	176	160	16	135	135	0	strelka-varscan	MYL10,missense_variant,p.Ile95Met,ENST00000223167,NM_138403.4;	C	ENST00000223167	Transcript	missense_variant	463/1009	285/681	95/226	I/M	atC/atG	rs779412213	1		-1	MYL10	HGNC	HGNC:29825	protein_coding	YES	CCDS34713.1	ENSP00000223167	Q9BUA6		UPI00001BBFAD	NM_138403.4	tolerated(0.55)		4/8		Gene3D:1.10.238.10,Pfam_domain:PF13405,PROSITE_profiles:PS50222,hmmpanther:PTHR23049,hmmpanther:PTHR23049:SF36,SMART_domains:SM00054,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	101623061	101623061	G	C	1	0	0	0	0	1	0	0	0	10044	1280	45	4		4	MYL10	7	101623061	Missense_Mutation	SNP	G	C3N-00556_TP	901073	101623061	57722912	197	17551											
ALKBH4	0	.	GRCh38	chr7	102464804	102464804	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgcaaccgcattcccgaagGacttcgggggtctcggcggc	6	8	14	13	5	1	0	0	0	1	0	4	2	2	1	2	5	2	2	2	5	2	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.33C>T	p.=	p.V11V	ENST00000292566	1/3	97	90	7	82	82	0	strelka-varscan	ALKBH4,synonymous_variant,p.=,ENST00000292566,NM_017621.3;LRWD1,upstream_gene_variant,,ENST00000292616,NM_001317721.1,NM_152892.1;LRWD1,upstream_gene_variant,,ENST00000463739,;LRWD1,upstream_gene_variant,,ENST00000468175,;LRWD1,upstream_gene_variant,,ENST00000626402,;LRWD1,upstream_gene_variant,,ENST00000582533,;ALKBH4,synonymous_variant,p.=,ENST00000490528,;ALKBH4,non_coding_transcript_exon_variant,,ENST00000498283,;LRWD1,upstream_gene_variant,,ENST00000473880,;LRWD1,upstream_gene_variant,,ENST00000485808,;LRWD1,upstream_gene_variant,,ENST00000476270,;LRWD1,upstream_gene_variant,,ENST00000464107,;LRWD1,upstream_gene_variant,,ENST00000485417,;	A	ENST00000292566	Transcript	synonymous_variant	73/2105	33/909	11/302	V	gtC/gtT		1		-1	ALKBH4	HGNC	HGNC:21900	protein_coding	YES	CCDS5723.1	ENSP00000292566	Q9NXW9		UPI0000073F0C	NM_017621.3			1/3		hmmpanther:PTHR12463																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	102464804	102464804	G	A	1	0	0	0	0	0	0	0	1	629	1161	41	3		3	ALKBH4	7	102464804	Silent	SNP	G	C3N-00556_TP	841743	102464804	56881169	198	17552											
SLC26A5	0	.	GRCh38	chr7	103376837	103376837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctaagtatacatatataCcgacgtctccatattctttt	11	16	4	10	2	2	0	0	0	2	0	3	1	2	0	2	0	3	2	2	0	7	10	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2012G>A	p.Gly671Asp	p.G671D	ENST00000306312	19/20	236	191	45	254	254	0	strelka-varscan	SLC26A5,missense_variant,p.Gly671Asp,ENST00000306312,NM_198999.2;SLC26A5,missense_variant,p.Gly673Asp,ENST00000354356,;SLC26A5,missense_variant,p.Gly639Asp,ENST00000432958,NM_001167962.1;SLC26A5,missense_variant,p.Gly639Asp,ENST00000393730,;SLC26A5,missense_variant,p.Gly671Asp,ENST00000339444,NM_206883.2;SLC26A5,missense_variant,p.Gly634Asp,ENST00000393729,;SLC26A5,missense_variant,p.Gly673Asp,ENST00000393727,;SLC26A5,missense_variant,p.Gly641Asp,ENST00000393723,;SLC26A5,intron_variant,,ENST00000393735,NM_206884.2;SLC26A5,intron_variant,,ENST00000356767,NM_206885.2;SLC26A5,3_prime_UTR_variant,,ENST00000423416,;SLC26A5,3_prime_UTR_variant,,ENST00000456463,;SLC26A5,3_prime_UTR_variant,,ENST00000445809,;SLC26A5,3_prime_UTR_variant,,ENST00000454864,;	T	ENST00000306312	Transcript	missense_variant	2274/2689	2012/2235	671/744	G/D	gGt/gAt		1		-1	SLC26A5	HGNC	HGNC:9359	protein_coding	YES	CCDS5733.1	ENSP00000304783	P58743		UPI0000132195	NM_198999.2	tolerated(1)		19/20		PROSITE_profiles:PS50801,hmmpanther:PTHR11814:SF32,hmmpanther:PTHR11814,TIGRFAM_domain:TIGR00815,Pfam_domain:PF01740,Gene3D:3.30.750.24,Superfamily_domains:SSF52091																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	103376837	103376837	C	T	1	0	0	0	0	1	0	0	0	14790	507	18	3		3	SLC26A5	7	103376837	Missense_Mutation	SNP	C	C3N-00556_TP	912033	103376837	55969136	199	17553											
RELN	0	.	GRCh38	chr7	103651762	103651763	+	Frame_Shift_Ins	INS	-	-	T																															ggagggaccaggagcgcccaINStggttggtagaaaattccaa																								novel		C3N-00556_TP	C3N-00556_NB	-	-																c.1790dupA	p.His597GlnfsTer11	p.H597Qfs*11	ENST00000428762	15/65	260	220	40	253	253	0	sindel-varindel-pindel	RELN,frameshift_variant,p.His597GlnfsTer11,ENST00000424685,;RELN,frameshift_variant,p.His597GlnfsTer11,ENST00000428762,NM_005045.3;RELN,frameshift_variant,p.His597GlnfsTer11,ENST00000343529,NM_173054.2;	T	ENST00000428762	Transcript	frameshift_variant	1950-1951/11571	1790-1791/10383	597/3460	H/QX	cat/caAt		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3			15/65		hmmpanther:PTHR11841,Superfamily_domains:SSF50939																	HIGH	1	insertion	5			1										PASS		.	.												T	7	5	55	103651762	103651762	-	T	1	0	1	1	0	0	0	0	0	13390	214	8	0		0	RELN	7	103651762	Frame_Shift_Ins	INS	-	C3N-00556_TP	274925	103651762	55694211	200	17554											
RINT1	0	.	GRCh38	chr7	105542515	105542515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggagcaggaaactcatctCttcagcgccattaacagcca	12	8	8	13	1	3	0	2	0	1	0	4	2	3	2	2	2	5	1	2	2	2	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.381C>T	p.=	p.L127L	ENST00000257700	4/15	337	318	19	326	326	0	strelka-varscan-mutect	RINT1,synonymous_variant,p.=,ENST00000257700,NM_021930.4;RINT1,synonymous_variant,p.=,ENST00000493041,;RINT1,non_coding_transcript_exon_variant,,ENST00000477285,;RINT1,missense_variant,p.Leu54Phe,ENST00000497979,;RINT1,3_prime_UTR_variant,,ENST00000467392,;RINT1,non_coding_transcript_exon_variant,,ENST00000493258,;RINT1,downstream_gene_variant,,ENST00000482041,;	T	ENST00000257700	Transcript	synonymous_variant	612/2976	381/2379	127/792	L	ctC/ctT		1		1	RINT1	HGNC	HGNC:21876	protein_coding	YES	CCDS34726.1	ENSP00000257700	Q6NUQ1		UPI000020F898	NM_021930.4			4/15		hmmpanther:PTHR13520,hmmpanther:PTHR13520:SF0																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	105542515	105542515	C	T	1	0	0	0	0	0	0	0	1	13550	900	32	3		3	RINT1	7	105542515	Silent	SNP	C	C3N-00556_TP	1890753	105542515	53803458	201	17555											
GRM8	0	.	GRCh38	chr7	126770015	126770015	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagcatcaattacaaattGgacctttccttcctgttcat	11	15	4	11	0	2	0	2	0	0	0	4	1	4	1	3	1	3	2	3	1	4	6	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1207C>T	p.Gln403Ter	p.Q403*	ENST00000339582	7/11	196	182	14	195	195	0	strelka-varscan-mutect	GRM8,stop_gained,p.Gln403Ter,ENST00000339582,NM_000845.2;GRM8,stop_gained,p.Gln403Ter,ENST00000358373,NM_001127323.1;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,non_coding_transcript_exon_variant,,ENST00000448250,;GRM8,stop_gained,p.Gln403Ter,ENST00000472701,;GRM8,stop_gained,p.Gln403Ter,ENST00000341617,;	A	ENST00000339582	Transcript	stop_gained	2016/4057	1207/2727	403/908	Q/*	Caa/Taa		1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2			7/11		Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00593,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Superfamily_domains:SSF53822																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	55	126770015	126770015	G	A	1	0	0	0	0	0	1	0	0	6685	1357	47	3		3	GRM8	7	126770015	Nonsense_Mutation	SNP	G	C3N-00556_TP	21227500	126770015	32575958	202	17556											
CCDC136	0	.	GRCh38	chr7	128794521	128794521	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggaggagctgcgggctCaggtgctgcagctggtggca	6	7	19	9	1	1	0	1	0	0	0	1	2	1	2	0	6	6	7	0	6	0	0	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.190C>T	p.Gln64Ter	p.Q64*	ENST00000297788	2/18	152	142	10	164	164	0	strelka-varscan-mutect	CCDC136,stop_gained,p.Gln64Ter,ENST00000297788,NM_022742.4;CCDC136,stop_gained,p.Gln64Ter,ENST00000487361,;CCDC136,stop_gained,p.Gln114Ter,ENST00000464832,;CCDC136,stop_gained,p.Gln114Ter,ENST00000378685,NM_001201372.1;CCDC136,stop_gained,p.Gln64Ter,ENST00000485998,;CCDC136,stop_gained,p.Gln64Ter,ENST00000459946,;CCDC136,incomplete_terminal_codon_variant,p.=,ENST00000488925,;CCDC136,downstream_gene_variant,,ENST00000472049,;	T	ENST00000297788	Transcript	stop_gained	557/4169	190/3465	64/1154	Q/*	Cag/Tag		1		1	CCDC136	HGNC	HGNC:22225	protein_coding	YES	CCDS47704.1	ENSP00000297788	Q96JN2		UPI0000E445DE	NM_022742.4			2/18		hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF26,Coiled-coils_(Ncoils):Coil																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	55	128794521	128794521	C	T	1	0	0	0	0	0	1	0	0	2459	827	29	3		3	CCDC136	7	128794521	Nonsense_Mutation	SNP	C	C3N-00556_TP	2024506	128794521	30551452	203	17557											
LUC7L2	0	.	GRCh38	chr7	139409630	139409630	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgaagagaagagagagagaGagaagaaagggagaagctga	21	1	17	2	1	0	8	0	1	0	7	0	14	0	8	0	1	1	1	0	1	5	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.755G>C	p.Arg252Thr	p.R252T	ENST00000354926	7/10	110	104	6	130	129	1	varscan-mutect	LUC7L2,missense_variant,p.Arg251Thr,ENST00000619796,NM_001270643.1;LUC7L2,missense_variant,p.Arg252Thr,ENST00000354926,NM_016019.4;LUC7L2,missense_variant,p.Arg249Thr,ENST00000263545,;C7orf55-LUC7L2,missense_variant,p.Arg318Thr,ENST00000541515,NM_001244584.2;LUC7L2,missense_variant,p.Arg249Thr,ENST00000541170,NM_001244585.1;LUC7L2,3_prime_UTR_variant,,ENST00000456182,;LUC7L2,non_coding_transcript_exon_variant,,ENST00000498518,;LUC7L2,non_coding_transcript_exon_variant,,ENST00000463912,;	C	ENST00000354926	Transcript	missense_variant	1109/2645	755/1179	252/392	R/T	aGa/aCa		1		1	LUC7L2	HGNC	HGNC:21608	protein_coding	YES	CCDS43656.1	ENSP00000347005	Q9Y383		UPI000003F000	NM_016019.4	tolerated(0.14)		7/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12375,hmmpanther:PTHR12375:SF28,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	139409630	139409630	G	C	1	0	0	0	0	1	0	0	0	8990	942	33	4		4	LUC7L2	7	139409630	Missense_Mutation	SNP	G	C3N-00556_TP	10615109	139409630	19936343	204	17558											
HIPK2	0	.	GRCh38	chr7	139573143	139573143	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgctgcacggtgtggcgCgcagagccttgcgaggccac	5	7	17	12	4	0	1	0	0	0	1	0	2	0	1	2	3	4	3	2	3	0	1	rs776716441		C3N-00556_TP	C3N-00556_NB	C	C																c.3381G>T	p.=	p.A1127A	ENST00000406875	15/15	267	235	32	260	257	3	strelka-varscan-mutect	HIPK2,synonymous_variant,p.=,ENST00000406875,NM_022740.4;HIPK2,synonymous_variant,p.=,ENST00000428878,NM_001113239.2;	A	ENST00000406875	Transcript	synonymous_variant	3476/15049	3381/3597	1127/1198	A	gcG/gcT	rs776716441	1		-1	HIPK2	HGNC	HGNC:14402	protein_coding	YES	CCDS75667.1	ENSP00000385571	Q9H2X6		UPI000012C71E	NM_022740.4			15/15																			LOW	1	SNV	1			1										PASS		rs776716441	.												A	2	1	55	139573143	139573143	C	A	1	0	0	0	0	0	0	0	1	7005	755	27	1		1	HIPK2	7	139573143	Silent	SNP	C	C3N-00556_TP	163513	139573143	19772830	205	17559											
MGAM	0	.	GRCh38	chr7	142038571	142038571	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgggatgtgcaccaacagTtcttatgggggcccggcctc	6	10	13	12	1	1	0	0	0	1	0	2	1	1	1	3	4	2	2	3	4	2	3	novel		C3N-00556_TP	C3N-00556_NB	T	T																c.2272T>C	p.Phe758Leu	p.F758L	ENST00000549489	19/48	78	66	12	95	95	0	strelka-varscan-mutect	MGAM,missense_variant,p.Phe758Leu,ENST00000475668,;MGAM,missense_variant,p.Phe758Leu,ENST00000549489,NM_004668.2;MGAM,missense_variant,p.Phe758Leu,ENST00000620571,;MGAM,non_coding_transcript_exon_variant,,ENST00000490593,;	C	ENST00000549489	Transcript	missense_variant	2367/6525	2272/5574	758/1857	F/L	Ttc/Ctc		1		1	MGAM	HGNC	HGNC:7043	protein_coding	YES	CCDS47727.1	ENSP00000447378	O43451		UPI000183CB7B	NM_004668.2	deleterious(0.05)		19/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF63,Pfam_domain:PF01055,Superfamily_domains:SSF51011																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	142038571	142038571	T	C	1	0	0	0	0	1	0	0	0	9499	1725	60	5		5	MGAM	7	142038571	Missense_Mutation	SNP	T	C3N-00556_TP	2465428	142038571	17307402	206	17560											
CASP2	0	.	GRCh38	chr7	143300002	143300002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcatcgtggcactcctctCgcatggtgtggagggcgcca	5	9	14	13	3	1	0	0	0	1	0	4	1	2	1	2	4	1	3	2	4	0	0	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.827C>T	p.Ser276Leu	p.S276L	ENST00000310447	7/11	340	291	49	383	383	0	strelka-varscan-mutect	CASP2,missense_variant,p.Ser276Leu,ENST00000310447,NM_032982.3;CASP2,3_prime_UTR_variant,,ENST00000619992,NM_032983.3;RN7SL481P,downstream_gene_variant,,ENST00000477764,;CASP2,non_coding_transcript_exon_variant,,ENST00000493642,;CASP2,3_prime_UTR_variant,,ENST00000350623,;CASP2,non_coding_transcript_exon_variant,,ENST00000472067,;	T	ENST00000310447	Transcript	missense_variant	1068/4225	827/1359	276/452	S/L	tCg/tTg		1		1	CASP2	HGNC	HGNC:1503	protein_coding	YES	CCDS5879.1	ENSP00000312664	P42575	A0A0S2Z3H1	UPI000020F1E8	NM_032982.3	deleterious(0)		7/11		PROSITE_profiles:PS50208,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF151,PROSITE_patterns:PS01121,Pfam_domain:PF00656,PIRSF_domain:PIRSF038001,Gene3D:3.40.50.1460,SMART_domains:SM00115,Superfamily_domains:SSF52129,Prints_domain:PR00376																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	143300002	143300002	C	T	1	0	0	0	0	1	0	0	0	2371	893	31	1		1	CASP2	7	143300002	Missense_Mutation	SNP	C	C3N-00556_TP	1261431	143300002	16045971	207	17561											
ZNF282	0	.	GRCh38	chr7	149198576	149198576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagaagctggccgactgtGaaaagacggccgtggaattt	13	7	14	7	3	0	4	0	1	0	3	0	6	0	5	2	3	1	1	2	3	5	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.409G>A	p.Glu137Lys	p.E137K	ENST00000610704	2/8	306	288	18	285	285	0	strelka-varscan-mutect	ZNF282,missense_variant,p.Glu137Lys,ENST00000610704,NM_003575.3;ZNF282,missense_variant,p.Glu137Lys,ENST00000479907,NM_001303481.1;	A	ENST00000610704	Transcript	missense_variant	514/3722	409/2016	137/671	E/K	Gaa/Aaa		1		1	ZNF282	HGNC	HGNC:13076	protein_coding	YES	CCDS5895.1	ENSP00000477841	Q9UDV7	A0A090N8Y3	UPI000013D255	NM_003575.3	deleterious(0)		2/8		Pfam_domain:PF12417																	MODERATE	1	SNV	1			1										PASS		rs750103234	.												A	3	1	55	149198576	149198576	G	A	1	0	0	0	0	1	0	0	0	18395	1291	45	3		3	ZNF282	7	149198576	Missense_Mutation	SNP	G	C3N-00556_TP	5898574	149198576	10147397	208	17562											
MCPH1	0	.	GRCh38	chr8	6621670	6621670	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaagccacagtcaagtatCtgtctgagaaatgggtctta	14	10	10	7	0	4	2	1	1	3	2	4	3	4	2	1	1	1	1	1	1	5	2	rs752120382		C3N-00556_TP	C3N-00556_NB	C	C																c.2431C>T	p.=	p.L811L	ENST00000344683	13/14	244	231	13	395	395	0	strelka-varscan-mutect	MCPH1,synonymous_variant,p.=,ENST00000344683,NM_024596.3;CTD-2541M15.3,upstream_gene_variant,,ENST00000607368,;MIR8055,downstream_gene_variant,,ENST00000610739,;MCPH1-AS1,intron_variant,,ENST00000515608,;MCPH1-AS1,intron_variant,,ENST00000522897,;MCPH1,non_coding_transcript_exon_variant,,ENST00000521175,;MCPH1,non_coding_transcript_exon_variant,,ENST00000519221,;MCPH1,downstream_gene_variant,,ENST00000521129,;	T	ENST00000344683	Transcript	synonymous_variant	2507/8039	2431/2508	811/835	L	Ctg/Ttg	rs752120382,COSM1101001	1		1	MCPH1	HGNC	HGNC:6954	protein_coding	YES	CCDS43689.1	ENSP00000342924		A0A075B6F8	UPI000020FF7E	NM_024596.3			13/14		Gene3D:3.40.50.10190,Pfam_domain:PF16589,PROSITE_profiles:PS50172,hmmpanther:PTHR14625,hmmpanther:PTHR14625:SF3,SMART_domains:SM00292,Superfamily_domains:SSF52113											0,1						LOW	1	SNV	1		0,1	1										PASS		rs752120382	.												T	2	4	55	6621670	6621670	C	T	1	0	0	0	0	0	0	0	1	9332	912	32	3		3	MCPH1	8	6621670	Silent	SNP	C	C3N-00556_TP		6621670	138516966	209	17563											
RP1L1	0	.	GRCh38	chr8	10609406	10609406	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctggaggcgttgggcCacgtcctgctgcagctcggc	3	9	15	14	3	0	0	0	0	0	0	3	1	2	1	3	4	3	4	3	4	0	1	rs140493813		C3N-00556_TP	C3N-00556_NB	C	C																c.4692G>T	p.=	p.V1564V	ENST00000382483	4/4	232	197	35	226	226	0	strelka-varscan-mutect	RP1L1,synonymous_variant,p.=,ENST00000382483,NM_178857.5;	A	ENST00000382483	Transcript	synonymous_variant	4916/7973	4692/7203	1564/2400	V	gtG/gtT	rs140493813	1		-1	RP1L1	HGNC	HGNC:15946	protein_coding	YES	CCDS43708.1	ENSP00000371923		A6NKC6	UPI00001AF9CC	NM_178857.5			4/4		hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF3																	LOW	1	SNV	1			1										PASS		rs140493813	.												A	2	1	55	10609406	10609406	C	A	1	0	0	0	0	0	0	0	1	13773	581	21	2		2	RP1L1	8	10609406	Silent	SNP	C	C3N-00556_TP	3987736	10609406	134529230	210	17564											
SLC18A1	0	.	GRCh38	chr8	20174394	20174394	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatgaagatccaatgccttGaagggttcgggccacaaaga	15	7	11	8	1	0	4	0	2	0	2	2	4	1	4	3	2	1	1	3	2	5	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.598C>T	p.Gln200Ter	p.Q200*	ENST00000440926	6/17	228	211	17	274	274	0	strelka-varscan-mutect	SLC18A1,stop_gained,p.Gln200Ter,ENST00000440926,NM_001135691.2;SLC18A1,stop_gained,p.Gln200Ter,ENST00000437980,NM_001142325.1;SLC18A1,stop_gained,p.Gln200Ter,ENST00000265808,NM_001142324.1;SLC18A1,stop_gained,p.Gln200Ter,ENST00000276373,NM_003053.3;SLC18A1,stop_gained,p.Gln200Ter,ENST00000519026,;SLC18A1,stop_gained,p.Gln200Ter,ENST00000381608,;SLC18A1,intron_variant,,ENST00000522513,;SLC18A1,non_coding_transcript_exon_variant,,ENST00000524272,;SLC18A1,stop_gained,p.Gln200Ter,ENST00000517776,;	A	ENST00000440926	Transcript	stop_gained	1069/2956	598/1578	200/525	Q/*	Caa/Taa		1		-1	SLC18A1	HGNC	HGNC:10934	protein_coding	YES	CCDS6013.1	ENSP00000387549	P54219		UPI00001389CE	NM_001135691.2			6/17		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR23506:SF15,hmmpanther:PTHR23506,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00880,Pfam_domain:PF07690,Superfamily_domains:SSF103473																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	55	20174394	20174394	G	A	1	0	0	0	0	0	1	0	0	14690	1299	45	3		3	SLC18A1	8	20174394	Nonsense_Mutation	SNP	G	C3N-00556_TP	9564988	20174394	124964242	211	17565											
PNMA2	0	.	GRCh38	chr8	26508455	26508455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcaatctttcaagaaactCagtgtcctgattaggggtct	10	14	9	8	0	5	2	3	1	2	1	6	2	6	2	1	2	1	1	1	2	4	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.301G>C	p.Glu101Gln	p.E101Q	ENST00000522362	3/3	228	197	31	282	282	0	strelka-varscan-mutect	PNMA2,missense_variant,p.Glu101Gln,ENST00000522362,NM_007257.5;BNIP3L,downstream_gene_variant,,ENST00000523949,;PNMA2,downstream_gene_variant,,ENST00000522764,;PNMA2,downstream_gene_variant,,ENST00000523244,;PNMA2,downstream_gene_variant,,ENST00000518212,;PNMA2,downstream_gene_variant,,ENST00000521875,;PNMA2,downstream_gene_variant,,ENST00000522450,;PNMA2,downstream_gene_variant,,ENST00000521740,;PNMA2,downstream_gene_variant,,ENST00000523616,;	G	ENST00000522362	Transcript	missense_variant	1196/4965	301/1095	101/364	E/Q	Gag/Cag		1		-1	PNMA2	HGNC	HGNC:9159	protein_coding	YES	CCDS34868.1	ENSP00000429344	Q9UL42		UPI0000073D3F	NM_007257.5	deleterious(0.02)		3/3		Pfam_domain:PF14893,hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	26508455	26508455	C	G	1	0	0	0	0	1	0	0	0	12261	835	29	4		4	PNMA2	8	26508455	Missense_Mutation	SNP	C	C3N-00556_TP	6334061	26508455	118630181	212	17566											
PLPP5	0	.	GRCh38	chr8	38267910	38267910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttacctccctacgatcaGttttattgtgttggtaaaga	10	15	7	9	1	1	1	1	0	0	1	2	2	2	1	2	1	2	3	2	1	5	7	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.325C>G	p.Leu109Val	p.L109V	ENST00000424479	4/7	125	109	16	154	154	0	strelka-mutect	PLPP5,missense_variant,p.Leu68Val,ENST00000529359,;PLPP5,missense_variant,p.Leu109Val,ENST00000424479,NM_001102559.1;PLPP5,missense_variant,p.Leu109Val,ENST00000422581,NM_032483.3;PLPP5,missense_variant,p.Leu90Val,ENST00000524616,;PLPP5,missense_variant,p.Leu109Val,ENST00000419686,NM_001102560.1;PLPP5,missense_variant,p.Leu103Val,ENST00000534339,;PLPP5,5_prime_UTR_variant,,ENST00000531823,;WHSC1L1,downstream_gene_variant,,ENST00000317025,NM_023034.1;PLPP5,non_coding_transcript_exon_variant,,ENST00000527793,;DDHD2,intron_variant,,ENST00000529872,;DDHD2,intron_variant,,ENST00000526071,;PLPP5,upstream_gene_variant,,ENST00000531483,;PLPP5,upstream_gene_variant,,ENST00000530193,;PLPP5,upstream_gene_variant,,ENST00000527758,;PLPP5,3_prime_UTR_variant,,ENST00000531109,;PLPP5,non_coding_transcript_exon_variant,,ENST00000528814,;PLPP5,upstream_gene_variant,,ENST00000530432,;PLPP5,downstream_gene_variant,,ENST00000524409,;	C	ENST00000424479	Transcript	missense_variant	346/2130	325/795	109/264	L/V	Ctg/Gtg		1		-1	PLPP5	HGNC	HGNC:25026	protein_coding	YES	CCDS47841.1	ENSP00000392553	Q8NEB5	A0A140VK38	UPI000044C28E	NM_001102559.1	tolerated(0.13)		4/7		Gene3D:1.20.144.10,Pfam_domain:PF01569,hmmpanther:PTHR10165,hmmpanther:PTHR10165:SF87,SMART_domains:SM00014,Superfamily_domains:SSF48317,Transmembrane_helices:TMhelix																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	55	38267910	38267910	G	C	1	0	0	0	0	1	0	0	0	12206	1020	36	4		4	PLPP5	8	38267910	Missense_Mutation	SNP	G	C3N-00556_TP	11759455	38267910	106870726	213	17567											
ANK1	0	.	GRCh38	chr8	41708784	41708784	+	Silent	SNP	C	C	A																															gacaccatgcctaccttgttCcccaggttgccattggcttg																										C3N-00556_TP	C3N-00556_NB	C	C																c.2091G>T	p.=	p.G697G	ENST00000265709	17/43	340	316	24	307	306	1	strelka-varscan-mutect	ANK1,synonymous_variant,p.=,ENST00000289734,NM_000037.3;ANK1,synonymous_variant,p.=,ENST00000347528,NM_020476.2,NM_020475.2,NM_020477.2;ANK1,synonymous_variant,p.=,ENST00000265709,NM_001142446.1;ANK1,upstream_gene_variant,,ENST00000520299,;	A	ENST00000265709	Transcript	synonymous_variant	2373/6379	2091/5694	697/1897	G	ggG/ggT	COSM3649243,COSM3649244	1		-1	ANK1	HGNC	HGNC:492	protein_coding	YES	CCDS47849.1	ENSP00000265709	P16157		UPI0000E4453A	NM_001142446.1			17/43		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF20,SMART_domains:SM00248,Superfamily_domains:SSF48403											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	55	41708784	41708784	C	A	1	0	0	0	0	0	0	0	1	720	842	30	2		2	ANK1	8	41708784	Silent	SNP	C	C3N-00556_TP	3440874	41708784	103429852	214	17568	377	2									
ANK1	0	.	GRCh38	chr8	41708785	41708785	+	Missense_Mutation	SNP	C	C	G																															acaccatgcctaccttgttcCccaggttgccattggcttgt																								novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2090G>C	p.Gly697Ala	p.G697A	ENST00000265709	17/43	346	320	26	308	308	0	strelka-varscan-mutect	ANK1,missense_variant,p.Gly664Ala,ENST00000289734,NM_000037.3;ANK1,missense_variant,p.Gly664Ala,ENST00000347528,NM_020476.2,NM_020475.2,NM_020477.2;ANK1,missense_variant,p.Gly697Ala,ENST00000265709,NM_001142446.1;ANK1,upstream_gene_variant,,ENST00000520299,;	G	ENST00000265709	Transcript	missense_variant	2372/6379	2090/5694	697/1897	G/A	gGg/gCg		1		-1	ANK1	HGNC	HGNC:492	protein_coding	YES	CCDS47849.1	ENSP00000265709	P16157		UPI0000E4453A	NM_001142446.1	tolerated(0.23)		17/43		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs1288037006	.												G	3	3	55	41708785	41708785	C	G	1	0	0	0	0	1	0	0	0	720	623	22	4		4	ANK1	8	41708785	Missense_Mutation	SNP	C	C3N-00556_TP	1	41708785	103429851	215	17569	377	2									
NSMAF	0	.	GRCh38	chr8	58599750	58599750	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccaaggggggactcacTggaagcccaagggggaagct	11	4	15	11	0	1	0	1	0	0	0	2	3	2	3	3	6	2	1	3	6	4	0	novel		C3N-00556_TP	C3N-00556_NB	T	T																c.1546A>C	p.Ser516Arg	p.S516R	ENST00000427130	18/31	150	142	8	139	139	0	varscan-mutect	NSMAF,missense_variant,p.Ser485Arg,ENST00000038176,NM_003580.3;NSMAF,missense_variant,p.Ser516Arg,ENST00000427130,NM_001144772.1;NSMAF,splice_region_variant,,ENST00000523982,;NSMAF,downstream_gene_variant,,ENST00000519858,;NSMAF,upstream_gene_variant,,ENST00000523177,;NSMAF,splice_region_variant,,ENST00000519227,;NSMAF,upstream_gene_variant,,ENST00000523106,;NSMAF,upstream_gene_variant,,ENST00000524148,;	G	ENST00000427130	Transcript	missense_variant,splice_region_variant	1734/3371	1546/2847	516/948	S/R	Agt/Cgt		1		-1	NSMAF	HGNC	HGNC:8017	protein_coding	YES	CCDS47864.1	ENSP00000411012	Q92636		UPI000192950C	NM_001144772.1	tolerated(0.07)		18/31		PROSITE_profiles:PS50197,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF53,Gene3D:1t77A02,Pfam_domain:PF02138,SMART_domains:SM01026,Superfamily_domains:SSF81837																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	55	58599750	58599750	T	G	1	0	0	0	0	1	0	0	0	10734	1594	55	5		5	NSMAF	8	58599750	Missense_Mutation	SNP	T	C3N-00556_TP	16890965	58599750	86538886	216	17570											
PREX2	0	.	GRCh38	chr8	68224585	68224585	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagttcagaacacagcgaaGaatttgggagtcagagaccg	15	6	13	7	2	2	4	2	0	0	4	2	7	2	5	1	1	2	1	1	1	3	2			C3N-00556_TP	C3N-00556_NB	G	G																c.4734G>A	p.=	p.K1578K	ENST00000288368	39/40	242	222	20	257	256	1	strelka-varscan-mutect	PREX2,synonymous_variant,p.=,ENST00000288368,NM_024870.2;Y_RNA,upstream_gene_variant,,ENST00000516401,;PREX2,downstream_gene_variant,,ENST00000520235,;	A	ENST00000288368	Transcript	synonymous_variant	5011/10750	4734/4821	1578/1606	K	aaG/aaA	COSM1221965,COSM231667	1		1	PREX2	HGNC	HGNC:22950	protein_coding	YES	CCDS6201.1	ENSP00000288368	Q70Z35		UPI0000375435	NM_024870.2			39/40		hmmpanther:PTHR22829:SF1,hmmpanther:PTHR22829											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	55	68224585	68224585	G	A	1	0	0	0	0	0	0	0	1	12611	933	33	3		3	PREX2	8	68224585	Silent	SNP	G	C3N-00556_TP	9624835	68224585	76914051	217	17571											
TRPA1	0	.	GRCh38	chr8	72055563	72055563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcctcgtatcacttatgtCttgtaggagcctctgacagg	9	12	10	10	1	3	1	1	1	2	0	4	2	3	2	2	2	2	2	2	2	4	4	rs756082155		C3N-00556_TP	C3N-00556_NB	C	C																c.1402G>A	p.Asp468Asn	p.D468N	ENST00000262209	12/27	272	233	39	312	312	0	strelka-varscan-mutect	TRPA1,missense_variant,p.Asp468Asn,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Asp320Asn,ENST00000523582,;MSC-AS1,non_coding_transcript_exon_variant,,ENST00000457356,;MSC-AS1,non_coding_transcript_exon_variant,,ENST00000519068,;MSC-AS1,intron_variant,,ENST00000518916,;MSC-AS1,downstream_gene_variant,,ENST00000522519,;MSC-AS1,downstream_gene_variant,,ENST00000512290,;MSC-AS1,downstream_gene_variant,,ENST00000519751,;MSC-AS1,downstream_gene_variant,,ENST00000524152,;TRPA1,upstream_gene_variant,,ENST00000520788,;	T	ENST00000262209	Transcript	missense_variant	1610/5223	1402/3360	468/1119	D/N	Gac/Aac	rs756082155	1		-1	TRPA1	HGNC	HGNC:497	protein_coding	YES	CCDS34908.1	ENSP00000262209	O75762		UPI000021081A	NM_007332.2	tolerated(0.19)		12/27		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF6,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs756082155	.												T	3	4	55	72055563	72055563	C	T	1	0	0	0	0	1	0	0	0	17082	913	32	3		3	TRPA1	8	72055563	Missense_Mutation	SNP	C	C3N-00556_TP	3830978	72055563	73083073	218	17572											
RDH10	0	.	GRCh38	chr8	73297238	73297238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccccactgtaacttgcagGtttttacctacacctgtgac	8	13	7	13	0	0	1	0	1	0	0	0	1	0	1	4	1	5	3	4	1	3	6	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.334G>A	p.Val112Ile	p.V112I	ENST00000240285	2/6	351	330	21	328	328	0	strelka-varscan-mutect	RDH10,missense_variant,p.Val112Ile,ENST00000240285,NM_172037.4;RDH10,5_prime_UTR_variant,,ENST00000519380,;RDH10,5_prime_UTR_variant,,ENST00000521928,;RPL7,upstream_gene_variant,,ENST00000396467,;RPL7,upstream_gene_variant,,ENST00000396465,;RPL7,upstream_gene_variant,,ENST00000352983,NM_000971.3;RPL7,upstream_gene_variant,,ENST00000396466,;RPL7,upstream_gene_variant,,ENST00000431653,;RPL7,upstream_gene_variant,,ENST00000435330,;RDH10-AS1,downstream_gene_variant,,ENST00000520894,;RDH10,non_coding_transcript_exon_variant,,ENST00000518870,;	A	ENST00000240285	Transcript	missense_variant	1012/3949	334/1026	112/341	V/I	Gtt/Att		1		1	RDH10	HGNC	HGNC:19975	protein_coding	YES	CCDS6213.1	ENSP00000240285	Q8IZV5	A0A024R7X6	UPI0000054C83	NM_172037.4	deleterious(0.03)		2/6		hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF466,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	73297238	73297238	G	A	1	0	0	0	0	1	0	0	0	13358	1261	44	3		3	RDH10	8	73297238	Missense_Mutation	SNP	G	C3N-00556_TP	1241675	73297238	71841398	219	17573											
ZFHX4	0	.	GRCh38	chr8	76855426	76855426	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttccggagatgtgaaaccGgctttgtctcccaaagagcc	10	9	11	11	2	1	3	0	1	1	2	3	4	2	3	4	2	2	2	4	2	2	2			C3N-00556_TP	C3N-00556_NB	G	G																c.8505G>T	p.=	p.P2835P	ENST00000521891	10/11	150	105	45	138	138	0	strelka-varscan-mutect	ZFHX4,synonymous_variant,p.=,ENST00000521891,NM_024721.4;ZFHX4,synonymous_variant,p.=,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	T	ENST00000521891	Transcript	synonymous_variant	8953/14019	8505/10851	2835/3616	P	ccG/ccT	COSM1101807,COSM751701	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4			10/11													1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												T	2	4	55	76855426	76855426	G	T	1	0	0	0	0	0	0	0	1	18213	1103	39	1		1	ZFHX4	8	76855426	Silent	SNP	G	C3N-00556_TP	3558188	76855426	68283210	220	17574											
OSGIN2	0	.	GRCh38	chr8	89914155	89914155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcagaagcaatacaccCaaatacaatcttaaatagta	20	9	3	9	0	3	1	2	0	1	1	3	1	3	1	1	0	3	2	1	0	10	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.278C>G	p.Pro93Arg	p.P93R	ENST00000451899	3/6	209	192	17	162	162	0	strelka-varscan-mutect	OSGIN2,missense_variant,p.Pro93Arg,ENST00000451899,NM_001126111.1;OSGIN2,missense_variant,p.Pro49Arg,ENST00000297438,NM_004337.2;OSGIN2,missense_variant,p.Pro93Arg,ENST00000520659,;	G	ENST00000451899	Transcript	missense_variant	538/4266	278/1650	93/549	P/R	cCa/cGa		1		1	OSGIN2	HGNC	HGNC:1355	protein_coding	YES	CCDS47888.1	ENSP00000396445	Q9Y236		UPI0000E5AF0B	NM_001126111.1	deleterious(0)		3/6		Gene3D:3.50.50.60,hmmpanther:PTHR15192,hmmpanther:PTHR15192:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	89914155	89914155	C	G	1	0	0	0	0	1	0	0	0	11357	594	21	4		4	OSGIN2	8	89914155	Missense_Mutation	SNP	C	C3N-00556_TP	13058729	89914155	55224481	221	17575											
ANKRD46	0	.	GRCh38	chr8	100528005	100528005	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagcaccttgatgattgcTaaaaaaaaaaaaaaaaaaaa	24	7	6	4	0	0	2	0	2	0	0	0	2	0	2	1	1	2	3	1	1	11	4	novel		C3N-00556_TP	C3N-00556_NB	T	T																c.312-2A>T		p.X104_splice	ENST00000520552		34	26	8	52	51	1	varscan-mutect	ANKRD46,splice_acceptor_variant,,ENST00000520311,NM_001270378.1;ANKRD46,splice_acceptor_variant,,ENST00000519597,NM_198401.3;ANKRD46,splice_acceptor_variant,,ENST00000335659,NM_001270377.1;ANKRD46,splice_acceptor_variant,,ENST00000520552,NM_001270379.1;ANKRD46,splice_acceptor_variant,,ENST00000358990,;ANKRD46,intron_variant,,ENST00000519316,;ANKRD46,downstream_gene_variant,,ENST00000521345,;ANKRD46,downstream_gene_variant,,ENST00000524072,;ANKRD46,downstream_gene_variant,,ENST00000523000,;	A	ENST00000520552	Transcript	splice_acceptor_variant	-/1686	312/699	104/232				1		-1	ANKRD46	HGNC	HGNC:27229	protein_coding	YES	CCDS59109.1	ENSP00000429015	Q86W74	A0A024R9G2	UPI000018CE82	NM_001270379.1				3/5																		HIGH	1	SNV	1			1										PASS		rs777810799	.												A	5	1	55	100528005	100528005	T	A	1	0	0	0	0	0	0	1	0	779	1536	53	4		4	ANKRD46	8	100528005	Splice_Site	SNP	T	C3N-00556_TP	10613850	100528005	44610631	222	17576											
SLC25A32	0	.	GRCh38	chr8	103401989	103401989	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctggttgtacttcaacttCagcaattcatatgccataaa	12	14	6	9	0	3	0	3	0	0	0	3	0	3	0	1	1	5	4	1	1	6	7	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.618G>A	p.=	p.L206L	ENST00000297578	5/7	205	194	11	193	193	0	strelka-varscan	SLC25A32,synonymous_variant,p.=,ENST00000297578,NM_030780.4;SLC25A32,non_coding_transcript_exon_variant,,ENST00000523701,;SLC25A32,stop_retained_variant,p.=,ENST00000523256,;SLC25A32,3_prime_UTR_variant,,ENST00000521645,;SLC25A32,3_prime_UTR_variant,,ENST00000523866,;	T	ENST00000297578	Transcript	synonymous_variant	785/2891	618/948	206/315	L	ctG/ctA		1		-1	SLC25A32	HGNC	HGNC:29683	protein_coding	YES	CCDS6300.1	ENSP00000297578	Q9H2D1	A0A024R9D0	UPI0000040C0F	NM_030780.4			5/7		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF62																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	103401989	103401989	C	T	1	0	0	0	0	0	0	0	1	14761	813	29	3		3	SLC25A32	8	103401989	Silent	SNP	C	C3N-00556_TP	2873984	103401989	41736647	223	17577											
DCAF13	0	.	GRCh38	chr8	103415514	103415514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccaagttggacttacagaGaggtaagataagttggtagg	15	9	13	4	0	0	2	0	0	0	2	0	4	0	3	1	4	2	4	1	4	6	6	rs149094412		C3N-00556_TP	C3N-00556_NB	G	G																c.524G>C	p.Arg175Thr	p.R175T	ENST00000297579	1/11	61	57	4	69	69	0	strelka-varscan-mutect	DCAF13,missense_variant,p.Arg175Thr,ENST00000297579,NM_015420.6;DCAF13,missense_variant,p.Arg175Thr,ENST00000616836,;DCAF13,missense_variant,p.Arg23Thr,ENST00000521971,;DCAF13,missense_variant,p.Arg23Thr,ENST00000618975,;DCAF13,missense_variant,p.Arg23Thr,ENST00000612750,;DCAF13,missense_variant,p.Arg23Thr,ENST00000519682,;DCAF13,splice_region_variant,,ENST00000521999,;SLC25A32,upstream_gene_variant,,ENST00000297578,NM_030780.4;DCAF13,splice_region_variant,,ENST00000518554,;DCAF13,splice_region_variant,,ENST00000521716,;SLC25A32,upstream_gene_variant,,ENST00000521645,;SLC25A32,upstream_gene_variant,,ENST00000523256,;SLC25A32,upstream_gene_variant,,ENST00000523866,;	C	ENST00000297579	Transcript	missense_variant,splice_region_variant	801/2642	524/1794	175/597	R/T	aGa/aCa	rs149094412	1		1	DCAF13	HGNC	HGNC:24535	protein_coding	YES	CCDS34934.1	ENSP00000297579		A0A087WT20	UPI0000DBEF2A	NM_015420.6	deleterious(0.01)		1/11		hmmpanther:PTHR22851,hmmpanther:PTHR22851:SF0,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		rs149094412	.												C	3	2	55	103415514	103415514	G	C	1	0	0	0	0	1	0	0	0	4067	956	33	4		4	DCAF13	8	103415514	Missense_Mutation	SNP	G	C3N-00556_TP	13525	103415514	41723122	224	17578											
PKHD1L1	0	.	GRCh38	chr8	109475133	109475133	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tataggcacaagcattattcCatttcagaagaaacgactga	16	10	7	8	1	1	3	1	1	0	2	2	4	2	3	1	1	2	2	1	1	6	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.8621C>A	p.Pro2874Gln	p.P2874Q	ENST00000378402	51/78	107	96	11	100	99	1	strelka-varscan-mutect	PKHD1L1,missense_variant,p.Pro2874Gln,ENST00000378402,NM_177531.4;RP11-419L20.2,downstream_gene_variant,,ENST00000518703,;	A	ENST00000378402	Transcript	missense_variant	8725/13076	8621/12732	2874/4243	P/Q	cCa/cAa		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	deleterious(0.01)		51/78		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF330																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	109475133	109475133	C	A	1	0	0	0	0	1	0	0	0	12068	594	21	2		2	PKHD1L1	8	109475133	Missense_Mutation	SNP	C	C3N-00556_TP	6059619	109475133	35663503	225	17579											
PKHD1L1	0	.	GRCh38	chr8	109504446	109504446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagaatataaaactggttGataccactgaacaatcaaaa	20	9	6	6	0	1	4	1	3	0	1	1	4	1	4	1	1	3	1	1	1	10	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.10948G>A	p.Asp3650Asn	p.D3650N	ENST00000378402	68/78	65	53	12	83	83	0	strelka-varscan-mutect	PKHD1L1,missense_variant,p.Asp3650Asn,ENST00000378402,NM_177531.4;PKHD1L1,missense_variant,p.Asp578Asn,ENST00000526472,;	A	ENST00000378402	Transcript	missense_variant	11052/13076	10948/12732	3650/4243	D/N	Gat/Aat		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	tolerated(0.35)		68/78		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF330																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	109504446	109504446	G	A	1	0	0	0	0	1	0	0	0	12068	1290	45	3		3	PKHD1L1	8	109504446	Missense_Mutation	SNP	G	C3N-00556_TP	29313	109504446	35634190	226	17580											
CSMD3	0	.	GRCh38	chr8	112517144	112517144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacattgaaaaacaacaGtgtccccaggttctcttcca	12	10	7	12	0	2	1	1	1	1	0	5	1	4	1	3	2	2	1	3	2	3	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.4646C>G	p.Thr1549Ser	p.T1549S	ENST00000297405	28/71	270	240	30	291	291	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Thr1549Ser,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Thr1509Ser,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Thr1445Ser,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Thr889Ser,ENST00000339701,;	C	ENST00000297405	Transcript	missense_variant	4891/13212	4646/11124	1549/3707	T/S	aCt/aGt		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	tolerated(0.89)		28/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		rs1354758891	.												C	3	2	55	112517144	112517144	G	C	1	0	0	0	0	1	0	0	0	3747	1029	36	4		4	CSMD3	8	112517144	Missense_Mutation	SNP	G	C3N-00556_TP	3012698	112517144	32621492	227	17581											
CSMD3	0	.	GRCh38	chr8	113019132	113019132	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaaaatgcagtctgagcCagtttttgttgctgataatt	12	15	8	6	0	1	2	0	2	1	0	1	2	1	2	1	0	4	4	1	0	4	6	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.965G>T	p.Trp322Leu	p.W322L	ENST00000297405	6/71	309	213	96	313	311	2	strelka-varscan-mutect	CSMD3,missense_variant,p.Trp322Leu,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Trp282Leu,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Trp322Leu,ENST00000455883,NM_052900.2;CSMD3,non_coding_transcript_exon_variant,,ENST00000497026,;	A	ENST00000297405	Transcript	missense_variant	1210/13212	965/11124	322/3707	W/L	tGg/tTg		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	tolerated(0.38)		6/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	113019132	113019132	C	A	1	0	0	0	0	1	0	0	0	3747	595	21	2		2	CSMD3	8	113019132	Missense_Mutation	SNP	C	C3N-00556_TP	501988	113019132	32119504	228	17582											
TRPS1	0	.	GRCh38	chr8	115414465	115414465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catagttttggcaaggatttGgtaggccaggcacgtgactc	9	11	13	8	1	0	1	0	1	0	0	1	2	0	2	1	5	0	4	1	5	3	5	rs376813799		C3N-00556_TP	C3N-00556_NB	G	G																c.3443C>T	p.Pro1148Leu	p.P1148L	ENST00000395715	7/7	245	169	76	313	312	1	strelka-varscan-mutect	TRPS1,missense_variant,p.Pro1148Leu,ENST00000395715,NM_014112.4,NM_001282903.2;TRPS1,missense_variant,p.Pro1135Leu,ENST00000220888,;TRPS1,missense_variant,p.Pro1139Leu,ENST00000520276,NM_001282902.2;TRPS1,missense_variant,p.Pro889Leu,ENST00000519076,;TRPS1,missense_variant,p.Pro260Leu,ENST00000518018,;	A	ENST00000395715	Transcript	missense_variant	4021/9990	3443/3885	1148/1294	P/L	cCa/cTa	rs376813799	1		-1	TRPS1	HGNC	HGNC:12340	protein_coding	YES	CCDS6318.2	ENSP00000379065	Q9UHF7		UPI00002104B8	NM_014112.4,NM_001282903.2	deleterious_low_confidence(0.01)		7/7		hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF176																	MODERATE	1	SNV	1			1										PASS		rs376813799	.												A	3	1	55	115414465	115414465	G	A	1	0	0	0	0	1	0	0	0	17099	1348	47	3		3	TRPS1	8	115414465	Missense_Mutation	SNP	G	C3N-00556_TP	2395333	115414465	29724171	229	17583											
TBC1D31	0	.	GRCh38	chr8	123129115	123129115	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgaccagcaaagagttgaaGatgaagcttggtaccagaaa	16	7	11	7	1	0	5	0	2	0	3	1	6	0	5	2	1	3	4	2	1	5	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2167G>C	p.Asp723His	p.D723H	ENST00000287380	15/22	129	111	18	106	106	0	strelka-varscan-mutect	TBC1D31,missense_variant,p.Asp723His,ENST00000287380,NM_145647.3;TBC1D31,missense_variant,p.Asp600His,ENST00000521676,;TBC1D31,missense_variant,p.Asp618His,ENST00000522420,;TBC1D31,missense_variant,p.Asp723His,ENST00000327098,NM_001145088.1;TBC1D31,missense_variant,p.Asp277His,ENST00000518805,;TBC1D31,3_prime_UTR_variant,,ENST00000524307,;TBC1D31,3_prime_UTR_variant,,ENST00000518577,;TBC1D31,non_coding_transcript_exon_variant,,ENST00000518866,;	C	ENST00000287380	Transcript	missense_variant	2257/3502	2167/3201	723/1066	D/H	Gat/Cat		1		1	TBC1D31	HGNC	HGNC:30888	protein_coding	YES	CCDS6338.1	ENSP00000287380	Q96DN5		UPI000013DEAB	NM_145647.3	deleterious(0)		15/22		hmmpanther:PTHR19853:SF1,hmmpanther:PTHR19853																	MODERATE	1	SNV	1			1										PASS		rs1202482451	.												C	3	2	55	123129115	123129115	G	C	1	0	0	0	0	1	0	0	0	16021	942	33	4		4	TBC1D31	8	123129115	Missense_Mutation	SNP	G	C3N-00556_TP	7714650	123129115	22009521	230	17584											
MFSD3	0	.	GRCh38	chr8	144510634	144510634	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgaggtcggtgctgcgcttCcgcctcgggggcctagcctg	2	10	16	13	4	0	1	0	1	0	0	3	1	1	1	4	4	3	2	4	4	1	3	rs766400259		C3N-00556_TP	C3N-00556_NB	C	C																c.867C>G	p.Phe289Leu	p.F289L	ENST00000301327	3/5	49	44	5	56	56	0	strelka-mutect	MFSD3,missense_variant,p.Phe289Leu,ENST00000301327,NM_138431.2;RECQL4,downstream_gene_variant,,ENST00000621189,;RECQL4,downstream_gene_variant,,ENST00000617875,NM_004260.3;GPT,downstream_gene_variant,,ENST00000394955,NM_005309.2;GPT,downstream_gene_variant,,ENST00000528431,;RECQL4,downstream_gene_variant,,ENST00000534626,;RECQL4,downstream_gene_variant,,ENST00000532846,;RECQL4,downstream_gene_variant,,ENST00000531875,;CTD-2517M22.17,upstream_gene_variant,,ENST00000580385,;RECQL4,downstream_gene_variant,,ENST00000529424,;MFSD3,non_coding_transcript_exon_variant,,ENST00000528047,;MFSD3,non_coding_transcript_exon_variant,,ENST00000526749,;MFSD3,non_coding_transcript_exon_variant,,ENST00000534427,;GPT,downstream_gene_variant,,ENST00000527165,;GPT,downstream_gene_variant,,ENST00000534702,;RECQL4,downstream_gene_variant,,ENST00000301323,;	G	ENST00000301327	Transcript	missense_variant	1127/1548	867/1239	289/412	F/L	ttC/ttG	rs766400259,COSM5299337	1		1	MFSD3	HGNC	HGNC:25157	protein_coding	YES	CCDS6431.1	ENSP00000301327	Q96ES6		UPI0000072E5F	NM_138431.2	tolerated(1)		3/5		hmmpanther:PTHR12778,hmmpanther:PTHR12778:SF10,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs766400259	.												G	3	3	55	144510634	144510634	C	G	1	0	0	0	0	1	0	0	0	9489	854	30	4		4	MFSD3	8	144510634	Missense_Mutation	SNP	C	C3N-00556_TP	21381519	144510634	628002	231	17585											
MPDZ	0	.	GRCh38	chr9	13196186	13196186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcagcttcttgtttttGtgcatcttctatttcttcta	6	20	6	9	0	5	1	0	0	5	1	5	1	5	1	0	0	3	4	0	0	2	9	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1591C>A	p.Gln531Lys	p.Q531K	ENST00000541718	13/46	167	157	10	187	187	0	strelka-varscan-mutect	MPDZ,missense_variant,p.Gln531Lys,ENST00000319217,;MPDZ,missense_variant,p.Gln531Lys,ENST00000541718,NM_003829.4;MPDZ,missense_variant,p.Gln531Lys,ENST00000381022,NM_001261406.1;MPDZ,missense_variant,p.Gln531Lys,ENST00000546205,;MPDZ,missense_variant,p.Gln531Lys,ENST00000447879,;MPDZ,missense_variant,p.Gln531Lys,ENST00000536827,NM_001261407.1;	T	ENST00000541718	Transcript	missense_variant	1813/7603	1591/6126	531/2041	Q/K	Caa/Aaa		1		-1	MPDZ	HGNC	HGNC:7208	protein_coding	YES	CCDS47951.1	ENSP00000439807	O75970		UPI00015367D3	NM_003829.4	tolerated(0.8)		13/46		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	13196186	13196186	G	T	1	0	0	0	0	1	0	0	0	9687	1386	48	2		2	MPDZ	9	13196186	Missense_Mutation	SNP	G	C3N-00556_TP		13196186	125198531	232	17586											
TEK	0	.	GRCh38	chr9	27229218	27229218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaattgactgttctgctGaagaagcggcctaggacaga	12	8	13	8	1	1	4	0	2	1	2	1	6	1	6	1	3	2	2	1	3	4	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.3361G>A	p.Glu1121Lys	p.E1121K	ENST00000380036	23/23	466	437	29	449	449	0	strelka-varscan-mutect	TEK,missense_variant,p.Glu1121Lys,ENST00000380036,NM_000459.4;TEK,missense_variant,p.Glu1078Lys,ENST00000406359,NM_001290077.1;TEK,missense_variant,p.Glu973Lys,ENST00000519097,NM_001290078.1;TEK,3_prime_UTR_variant,,ENST00000615002,;	A	ENST00000380036	Transcript	missense_variant	3803/4760	3361/3375	1121/1124	E/K	Gaa/Aaa		1		1	TEK	HGNC	HGNC:11724	protein_coding	YES	CCDS6519.1	ENSP00000369375	Q02763		UPI000021121E	NM_000459.4	deleterious(0)		23/23		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF125																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	27229218	27229218	G	A	1	0	0	0	0	1	0	0	0	16163	1291	45	3		3	TEK	9	27229218	Missense_Mutation	SNP	G	C3N-00556_TP	14033032	27229218	111165499	233	17587											
LINGO2	0	.	GRCh38	chr9	27950618	27950618	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggatcccatgaagattaaCaccacagccagacccaggaa	15	5	9	12	0	0	3	0	1	0	2	1	5	1	5	4	2	2	0	4	2	3	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.54G>T	p.=	p.V18V	ENST00000379992	6/6	14	6	8	22	22	0	strelka-mutect	LINGO2,synonymous_variant,p.=,ENST00000379992,NM_152570.2,NM_001258282.1;LINGO2,synonymous_variant,p.=,ENST00000308675,;LINGO2,synonymous_variant,p.=,ENST00000613945,;	A	ENST00000379992	Transcript	synonymous_variant	504/3044	54/1821	18/606	V	gtG/gtT		1		-1	LINGO2	HGNC	HGNC:21207	protein_coding	YES	CCDS6524.1	ENSP00000369328	Q7L985		UPI000004C7CD	NM_152570.2,NM_001258282.1			6/6		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF38,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	55	27950618	27950618	C	A	1	0	0	0	0	0	0	0	1	8736	465	17	2		2	LINGO2	9	27950618	Silent	SNP	C	C3N-00556_TP	721400	27950618	110444099	234	17588											
ANKRD18A	0	.	GRCh38	chr9	38595708	38595708	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttcttgttgacgtattctCtcctctaaagagttctgctt	7	18	7	9	1	4	2	0	1	4	1	6	2	5	2	1	0	1	5	1	0	3	8	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1632G>C	p.Glu544Asp	p.E544D	ENST00000399703	9/16	174	157	17	191	191	0	strelka-varscan-mutect	ANKRD18A,missense_variant,p.Glu544Asp,ENST00000399703,NM_147195.2;ANKRD18A,upstream_gene_variant,,ENST00000602295,;	G	ENST00000399703	Transcript	missense_variant	2007/4041	1632/2979	544/992	E/D	gaG/gaC		1		-1	ANKRD18A	HGNC	HGNC:23643	protein_coding	YES	CCDS55311.1	ENSP00000382610	Q8IVF6		UPI00001AF4AF	NM_147195.2	deleterious(0.01)		9/16		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147:SF27,hmmpanther:PTHR24147,Pfam_domain:PF14915																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	38595708	38595708	C	G	1	0	0	0	0	1	0	0	0	748	912	32	4		4	ANKRD18A	9	38595708	Missense_Mutation	SNP	C	C3N-00556_TP	10645090	38595708	99799009	235	17589											
FOXD4L4	0	.	GRCh38	chr9	65738091	65738091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagggcaagggtctggcgtCgccaccgggaggcggatgct	6	5	20	10	4	1	0	0	0	1	0	2	3	1	3	2	7	1	2	2	7	1	0	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.946C>T	p.Arg316Cys	p.R316C	ENST00000377413	1/1	607	570	37	652	651	1	varscan-mutect	FOXD4L4,missense_variant,p.Arg316Cys,ENST00000377413,NM_199244.3;CBWD5,downstream_gene_variant,,ENST00000377392,NM_001286835.1;CBWD5,downstream_gene_variant,,ENST00000382405,;CBWD5,downstream_gene_variant,,ENST00000430059,;CBWD5,downstream_gene_variant,,ENST00000429800,;CBWD5,downstream_gene_variant,,ENST00000377395,NM_001024916.3;CBWD5,downstream_gene_variant,,ENST00000489273,;CBWD5,downstream_gene_variant,,ENST00000476797,;CBWD5,downstream_gene_variant,,ENST00000468066,;CBWD5,downstream_gene_variant,,ENST00000486191,;CBWD5,downstream_gene_variant,,ENST00000485088,;CBWD5,downstream_gene_variant,,ENST00000461932,;CBWD5,downstream_gene_variant,,ENST00000480229,;CBWD5,downstream_gene_variant,,ENST00000377389,;CBWD5,downstream_gene_variant,,ENST00000486221,;CBWD5,downstream_gene_variant,,ENST00000497250,;CBWD5,downstream_gene_variant,,ENST00000463075,;CBWD5,downstream_gene_variant,,ENST00000491485,;CBWD5,downstream_gene_variant,,ENST00000480819,;	T	ENST00000377413	Transcript	missense_variant	1537/2230	946/1251	316/416	R/C	Cgc/Tgc		1		1	FOXD4L4	HGNC	HGNC:23762	protein_coding	YES	CCDS75845.1	ENSP00000366630	Q8WXT5		UPI0000246F14	NM_199244.3	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF149,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												T	3	4	55	65738091	65738091	C	T	1	0	0	0	0	1	0	0	0	5862	884	31	1		1	FOXD4L4	9	65738091	Missense_Mutation	SNP	C	C3N-00556_TP	27142383	65738091	72656626	236	17590											
TRPM6	0	.	GRCh38	chr9	74786048	74786048	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacaggccaatggccacAgtttctgttaagttccagta	13	10	9	9	0	1	0	0	0	1	0	2	1	2	0	3	2	1	4	3	2	5	4	novel		C3N-00556_TP	C3N-00556_NB	A	A																c.2745T>C	p.=	p.T915T	ENST00000360774	21/39	257	241	16	313	312	1	strelka-varscan-mutect	TRPM6,synonymous_variant,p.=,ENST00000360774,NM_017662.4;TRPM6,synonymous_variant,p.=,ENST00000361255,NM_001177311.1;TRPM6,synonymous_variant,p.=,ENST00000449912,NM_001177310.1;	G	ENST00000360774	Transcript	synonymous_variant	2983/8425	2745/6069	915/2022	T	acT/acC		1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4			21/39		Pfam_domain:PF00520,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	55	74786048	74786048	A	G	1	0	0	0	0	0	0	0	1	17096	175	7	5		5	TRPM6	9	74786048	Silent	SNP	A	C3N-00556_TP	9047957	74786048	63608669	237	17591											
GCNT1	0	.	GRCh38	chr9	76503404	76503404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactccctgccagccataaGtatgatctgtctgacatgca	10	11	7	13	0	3	2	1	2	2	0	4	2	4	2	3	0	3	2	3	0	2	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1023G>T	p.Lys341Asn	p.K341N	ENST00000442371	3/3	232	179	53	316	315	1	strelka-varscan-mutect	GCNT1,missense_variant,p.Lys341Asn,ENST00000442371,NM_001097634.1;GCNT1,missense_variant,p.Lys341Asn,ENST00000376730,NM_001490.4;GCNT1,missense_variant,p.Lys341Asn,ENST00000444201,NM_001097633.1,NM_001097635.1,NM_001097636.1;GCNT1,downstream_gene_variant,,ENST00000488136,;GCNT1,downstream_gene_variant,,ENST00000480311,;	T	ENST00000442371	Transcript	missense_variant	1962/5972	1023/1287	341/428	K/N	aaG/aaT		1		1	GCNT1	HGNC	HGNC:4203	protein_coding	YES	CCDS6653.1	ENSP00000415454	Q02742		UPI000013CF63	NM_001097634.1	deleterious(0)		3/3		Pfam_domain:PF02485,hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF81																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	76503404	76503404	G	T	1	0	0	0	0	1	0	0	0	6170	1020	36	2		2	GCNT1	9	76503404	Missense_Mutation	SNP	G	C3N-00556_TP	1717356	76503404	61891313	238	17592											
NTRK2	0	.	GRCh38	chr9	84707854	84707854	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttcagcaattttaccCgaaacaaactgacgagtttg	12	13	6	10	2	1	1	1	1	0	0	2	3	2	1	2	0	4	2	2	0	4	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.370C>T	p.Arg124Ter	p.R124*	ENST00000277120	5/19	125	103	22	198	198	0	strelka-varscan-mutect	NTRK2,stop_gained,p.Arg124Ter,ENST00000277120,;NTRK2,stop_gained,p.Arg124Ter,ENST00000304053,NM_001018065.2;NTRK2,stop_gained,p.Arg124Ter,ENST00000376208,NM_001018066.2;NTRK2,stop_gained,p.Arg124Ter,ENST00000395882,NM_001291937.1,NM_001007097.2;NTRK2,stop_gained,p.Arg124Ter,ENST00000359847,;NTRK2,stop_gained,p.Arg124Ter,ENST00000376214,NM_006180.4;NTRK2,stop_gained,p.Arg124Ter,ENST00000376213,;NTRK2,stop_gained,p.Arg124Ter,ENST00000323115,NM_001018064.2;	T	ENST00000277120	Transcript	stop_gained	853/8633	370/2517	124/838	R/*	Cga/Tga		1		1	NTRK2	HGNC	HGNC:8032	protein_coding	YES	CCDS6671.1	ENSP00000277120	Q16620	A0A024R230	UPI000006FA0D				5/19		Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF136,Superfamily_domains:SSF52058																	HIGH	1	SNV	1			1										PASS		rs1229434307	.												T	4	4	55	84707854	84707854	C	T	1	0	0	0	0	0	1	0	0	10773	644	23	1		1	NTRK2	9	84707854	Nonsense_Mutation	SNP	C	C3N-00556_TP	8204450	84707854	53686863	239	17593											
SPTLC1	0	.	GRCh38	chr9	92080070	92080070	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccacgccatacttctttaGagatgctaaagctgctgcct	9	11	7	14	1	1	1	0	0	1	1	1	2	1	1	4	0	5	3	4	0	4	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.373C>G	p.Leu125Val	p.L125V	ENST00000262554	5/15	295	226	69	369	369	0	strelka-varscan-mutect	SPTLC1,missense_variant,p.Leu125Val,ENST00000262554,NM_006415.3,NM_001281303.1;SPTLC1,missense_variant,p.Leu125Val,ENST00000337841,NM_178324.2;SPTLC1,non_coding_transcript_exon_variant,,ENST00000482632,;SPTLC1,non_coding_transcript_exon_variant,,ENST00000477888,;	C	ENST00000262554	Transcript	missense_variant	379/1894	373/1422	125/473	L/V	Cta/Gta		1		-1	SPTLC1	HGNC	HGNC:11277	protein_coding	YES	CCDS6692.1	ENSP00000262554	O15269	A0A024R277	UPI000012E27B	NM_006415.3,NM_001281303.1	tolerated(0.23)		5/15		hmmpanther:PTHR13693:SF2,hmmpanther:PTHR13693,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	92080070	92080070	G	C	1	0	0	0	0	1	0	0	0	15479	933	33	4		4	SPTLC1	9	92080070	Missense_Mutation	SNP	G	C3N-00556_TP	7372216	92080070	46314647	240	17594											
PTCH1	0	.	GRCh38	chr9	95481960	95481960	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacttacaggaggtatgcTgtcccagactgtaatttcgc	10	11	9	11	1	0	1	0	0	0	1	2	2	1	2	1	2	2	3	1	2	3	4	rs1805154		C3N-00556_TP	C3N-00556_NB	T	T																c.735A>T	p.=	p.T245T	ENST00000331920	5/24	352	270	82	399	398	1	strelka-varscan-mutect	PTCH1,synonymous_variant,p.=,ENST00000430669,;PTCH1,synonymous_variant,p.=,ENST00000331920,NM_000264.3;PTCH1,synonymous_variant,p.=,ENST00000437951,NM_001083602.1;PTCH1,synonymous_variant,p.=,ENST00000418258,NM_001083607.1;PTCH1,synonymous_variant,p.=,ENST00000421141,NM_001083604.1,NM_001083605.1;PTCH1,synonymous_variant,p.=,ENST00000429896,NM_001083606.1;PTCH1,synonymous_variant,p.=,ENST00000375274,NM_001083603.1;PTCH1,synonymous_variant,p.=,ENST00000468211,;PTCH1,synonymous_variant,p.=,ENST00000553011,;PTCH1,synonymous_variant,p.=,ENST00000547672,;PTCH1,synonymous_variant,p.=,ENST00000546820,;PTCH1,synonymous_variant,p.=,ENST00000551845,;PTCH1,intron_variant,,ENST00000548420,;PTCH1,upstream_gene_variant,,ENST00000375271,;PTCH1,downstream_gene_variant,,ENST00000551630,;PTCH1,non_coding_transcript_exon_variant,,ENST00000548379,;PTCH1,non_coding_transcript_exon_variant,,ENST00000553256,;PTCH1,intron_variant,,ENST00000548945,;PTCH1,downstream_gene_variant,,ENST00000551425,;PTCH1,3_prime_UTR_variant,,ENST00000550914,;PTCH1,non_coding_transcript_exon_variant,,ENST00000550136,;PTCH1,intron_variant,,ENST00000375290,;PTCH1,downstream_gene_variant,,ENST00000551623,;PTCH1,upstream_gene_variant,,ENST00000488809,;	A	ENST00000331920	Transcript	synonymous_variant	1035/8057	735/4344	245/1447	T	acA/acT	rs1805154,COSM5019913	1		-1	PTCH1	HGNC	HGNC:9585	protein_coding	YES	CCDS6714.1	ENSP00000332353	Q13635		UPI00001AFF9C	NM_000264.3			5/24		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF61,TIGRFAM_domain:TIGR00918										benign	0,1						LOW	1	SNV	5		1,1	1										PASS		rs1805154	.												A	2	1	55	95481960	95481960	T	A	1	0	0	0	0	0	0	0	1	12883	1567	55	4		4	PTCH1	9	95481960	Silent	SNP	T	C3N-00556_TP	3401890	95481960	42912757	241	17595											
GABBR2	0	.	GRCh38	chr9	98388944	98388944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagaggatgctgtagagaGgtagggagatcttccgcagc	11	7	16	7	1	1	3	0	0	1	3	2	7	2	4	1	3	2	4	1	3	2	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1439C>A	p.Pro480His	p.P480H	ENST00000259455	10/19	137	112	25	139	139	0	strelka-varscan-mutect	GABBR2,missense_variant,p.Pro480His,ENST00000259455,NM_005458.7;GABBR2,non_coding_transcript_exon_variant,,ENST00000637410,;GABBR2,upstream_gene_variant,,ENST00000634314,;	T	ENST00000259455	Transcript	missense_variant	1899/5788	1439/2826	480/941	P/H	cCt/cAt		1		-1	GABBR2	HGNC	HGNC:4507	protein_coding	YES	CCDS6736.1	ENSP00000259455	O75899	H9NIL8	UPI0000035832	NM_005458.7	tolerated(0.08)		10/19		hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF40																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	98388944	98388944	G	T	1	0	0	0	0	1	0	0	0	6027	1000	35	2		2	GABBR2	9	98388944	Missense_Mutation	SNP	G	C3N-00556_TP	2906984	98388944	40005773	242	17596											
FRRS1L	0	.	GRCh38	chr9	109137604	109137604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgaagccggcggtgagtCtatatcatgtcgagtgatag	9	11	13	8	3	3	3	1	3	2	0	4	4	3	3	1	2	1	0	1	2	4	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.886G>C	p.Asp296His	p.D296H	ENST00000561981	5/5	64	59	5	77	77	0	strelka-varscan-mutect	FRRS1L,missense_variant,p.Asp296His,ENST00000561981,NM_014334.2;	G	ENST00000561981	Transcript	missense_variant	886/8197	886/1035	296/344	D/H	Gac/Cac		1		-1	FRRS1L	HGNC	HGNC:1362	protein_coding	YES	CCDS35098.1	ENSP00000477141	Q9P0K9		UPI000013D040	NM_014334.2	deleterious(0.01)		5/5		hmmpanther:PTHR23130,hmmpanther:PTHR23130:SF65																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	109137604	109137604	C	G	1	0	0	0	0	1	0	0	0	5932	913	32	4		4	FRRS1L	9	109137604	Missense_Mutation	SNP	C	C3N-00556_TP	10748660	109137604	29257113	243	17597											
PALM2	0	.	GRCh38	chr9	109923739	109923739	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttgtgtgttttccaggctgGagcaagaaatacaaacgcta	12	12	10	7	1	0	1	0	0	0	1	1	2	1	2	1	2	3	4	1	2	5	5			C3N-00556_TP	C3N-00556_NB	G	G																c.262G>C	p.Glu88Gln	p.E88Q	ENST00000374530	4/11	148	140	8	163	163	0	strelka-varscan-mutect	PALM2-AKAP2,missense_variant,p.Glu88Gln,ENST00000374530,NM_007203.4;PALM2-AKAP2,missense_variant,p.Glu88Gln,ENST00000302798,NM_147150.2;PALM2,missense_variant,p.Glu90Gln,ENST00000374531,NM_001037293.2;PALM2,missense_variant,p.Glu88Gln,ENST00000483909,;PALM2-AKAP2,missense_variant,p.Glu88Gln,ENST00000413420,;PALM2,missense_variant,p.Glu88Gln,ENST00000314527,NM_053016.5;PALM2,missense_variant,p.Glu74Gln,ENST00000497711,;PALM2,non_coding_transcript_exon_variant,,ENST00000465091,;	C	ENST00000374530	Transcript	missense_variant	442/7507	262/3312	88/1103	E/Q	Gag/Cag	COSM3652761,COSM3652762	1		1	PALM2-AKAP2	HGNC	HGNC:33529	protein_coding	YES	CCDS35100.1	ENSP00000363654			UPI0000125755	NM_007203.4	deleterious_low_confidence(0.01)		4/11		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03285,hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF10											1,1						MODERATE		SNV	2		1,1	1										PASS		.	.												C	3	2	55	109923739	109923739	G	C	1	0	0	0	0	1	0	0	0	11489	1188	41	4		4	PALM2	9	109923739	Missense_Mutation	SNP	G	C3N-00556_TP	786135	109923739	28470978	244	17598											
PALM2	0	.	GRCh38	chr9	109943379	109943379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagctacagagccagcccCaggtacccaaaagaaaaagc	16	3	8	14	0	0	2	0	0	0	2	0	2	0	2	5	1	6	2	5	1	7	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1190C>A	p.Pro397Gln	p.P397Q	ENST00000314527	7/7	120	94	26	149	149	0	strelka-varscan-mutect	PALM2,missense_variant,p.Pro365Gln,ENST00000374531,NM_001037293.2;PALM2,missense_variant,p.Pro363Gln,ENST00000483909,;PALM2-AKAP2,missense_variant,p.Pro397Gln,ENST00000413420,;PALM2,missense_variant,p.Pro397Gln,ENST00000314527,NM_053016.5;PALM2-AKAP2,intron_variant,,ENST00000374530,NM_007203.4;PALM2-AKAP2,intron_variant,,ENST00000302798,NM_147150.2;PALM2,downstream_gene_variant,,ENST00000497711,;	A	ENST00000314527	Transcript	missense_variant	1240/1332	1190/1236	397/411	P/Q	cCa/cAa		1		1	PALM2	HGNC	HGNC:15845	protein_coding	YES	CCDS48002.2	ENSP00000323805	Q8IXS6		UPI0000071924	NM_053016.5	tolerated(0.18)		7/7		Pfam_domain:PF03285,hmmpanther:PTHR10498																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	109943379	109943379	C	A	1	0	0	0	0	1	0	0	0	11489	594	21	2		2	PALM2	9	109943379	Missense_Mutation	SNP	C	C3N-00556_TP	19640	109943379	28451338	245	17599											
MUSK	0	.	GRCh38	chr9	110800824	110800824	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaggtcatttactacgtgCgagatggcaacatcctctcc	10	10	10	11	2	2	1	1	0	1	1	4	3	3	2	2	3	4	1	2	3	3	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2446C>A	p.=	p.R816R	ENST00000374448	15/15	72	47	25	154	153	1	strelka-varscan-mutect	MUSK,synonymous_variant,p.=,ENST00000416899,;MUSK,synonymous_variant,p.=,ENST00000374448,NM_005592.3;MUSK,synonymous_variant,p.=,ENST00000189978,NM_001166281.1,NM_001166280.1;MUSK,synonymous_variant,p.=,ENST00000374440,;	A	ENST00000374448	Transcript	synonymous_variant	2580/2754	2446/2610	816/869	R	Cga/Aga		1		1	MUSK	HGNC	HGNC:7525	protein_coding	YES	CCDS48005.1	ENSP00000363571	O15146		UPI000006D2F7	NM_005592.3			15/15		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF317,SMART_domains:SM00219,Superfamily_domains:SSF56112																	LOW	1	SNV	5			1										PASS		rs1487680236	.												A	2	1	55	110800824	110800824	C	A	1	0	0	0	0	0	0	0	1	9987	760	27	1		1	MUSK	9	110800824	Silent	SNP	C	C3N-00556_TP	857445	110800824	27593893	246	17600											
CDC26	0	.	GRCh38	chr9	113272433	113272433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttgtattcatacctccagGtcctttcgaatgttctcaaa	10	15	6	10	1	2	0	2	0	1	0	6	1	4	0	3	1	1	3	3	1	4	6	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.75C>A	p.Asp25Glu	p.D25E	ENST00000374206	3/4	129	95	34	223	222	1	strelka-varscan-mutect	CDC26,missense_variant,p.Asp25Glu,ENST00000374206,NM_139286.3;PRPF4,upstream_gene_variant,,ENST00000374199,NM_001244926.1;PRPF4,upstream_gene_variant,,ENST00000374198,NM_004697.4;CDC26,non_coding_transcript_exon_variant,,ENST00000490408,;	T	ENST00000374206	Transcript	missense_variant	434/872	75/258	25/85	D/E	gaC/gaA		1		-1	CDC26	HGNC	HGNC:17839	protein_coding	YES	CCDS6790.1	ENSP00000363322	Q8NHZ8	A0A024R832	UPI0000073C4F	NM_139286.3	tolerated(1)		3/4		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR28579:SF1,hmmpanther:PTHR28579,Pfam_domain:PF10471																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	113272433	113272433	G	T	1	0	0	0	0	1	0	0	0	2768	1252	44	2		2	CDC26	9	113272433	Missense_Mutation	SNP	G	C3N-00556_TP	2471609	113272433	25122284	247	17601											
LMX1B	0	.	GRCh38	chr9	126693228	126693228	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggggatgacgggaaggacCcgcggaggcccaagcgaccc	9	1	18	13	5	0	1	0	1	0	0	0	6	0	5	3	6	1	0	3	6	2	0	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.646C>A	p.Pro216Thr	p.P216T	ENST00000355497	4/8	65	45	20	38	38	0	strelka-varscan-mutect	LMX1B,missense_variant,p.Pro216Thr,ENST00000355497,NM_001174146.1;LMX1B,missense_variant,p.Pro216Thr,ENST00000373474,NM_001174147.1;LMX1B,missense_variant,p.Pro193Thr,ENST00000561065,;LMX1B,missense_variant,p.Pro216Thr,ENST00000526117,NM_002316.3;	A	ENST00000355497	Transcript	missense_variant	653/5809	646/1221	216/406	P/T	Ccg/Acg		1		1	LMX1B	HGNC	HGNC:6654	protein_coding	YES	CCDS55343.1	ENSP00000347684	O60663		UPI0001CE94D0	NM_001174146.1	tolerated(0.54)		4/8		Gene3D:1.10.10.60,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF96,Low_complexity_(Seg):seg,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		rs1458074441	.												A	3	1	55	126693228	126693228	C	A	1	0	0	0	0	1	0	0	0	8789	623	22	2		2	LMX1B	9	126693228	Missense_Mutation	SNP	C	C3N-00556_TP	13420795	126693228	11701489	248	17602											
PTGES2	0	.	GRCh38	chr9	128127604	128127604	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccgcccgccgcccccgcGaagccagcccggctctgcgt	3	3	14	21	7	1	0	0	0	1	0	1	1	1	0	7	2	3	1	7	2	1	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.114C>T	p.=	p.F38F	ENST00000338961	1/7	24	19	5	18	18	0	strelka-mutect	PTGES2,synonymous_variant,p.=,ENST00000338961,NM_025072.6;PTGES2,synonymous_variant,p.=,ENST00000449878,;PTGES2,intron_variant,,ENST00000277462,NM_198938.2;PTGES2,intron_variant,,ENST00000617202,NM_001256335.1;PTGES2-AS1,upstream_gene_variant,,ENST00000443493,;PTGES2,non_coding_transcript_exon_variant,,ENST00000483625,;PTGES2,non_coding_transcript_exon_variant,,ENST00000474124,;PTGES2,intron_variant,,ENST00000476748,;PTGES2,intron_variant,,ENST00000497109,;PTGES2,intron_variant,,ENST00000487063,;PTGES2,intron_variant,,ENST00000485237,;PTGES2,non_coding_transcript_exon_variant,,ENST00000496594,;PTGES2,non_coding_transcript_exon_variant,,ENST00000485510,;PTGES2,upstream_gene_variant,,ENST00000493205,;PTGES2,upstream_gene_variant,,ENST00000476655,;	A	ENST00000338961	Transcript	synonymous_variant	859/2331	114/1134	38/377	F	ttC/ttT		1		-1	PTGES2	HGNC	HGNC:17822	protein_coding	YES	CCDS6891.1	ENSP00000345341	Q9H7Z7		UPI000003F04A	NM_025072.6			1/7		hmmpanther:PTHR12782,hmmpanther:PTHR12782:SF5,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1463229922	.												A	2	1	55	128127604	128127604	G	A	1	0	0	0	0	0	0	0	1	12902	1049	37	1		1	PTGES2	9	128127604	Silent	SNP	G	C3N-00556_TP	1434376	128127604	10267113	249	17603											
LAMC3	0	.	GRCh38	chr9	131009284	131009284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccggcgcgggcatgggcGcgtgctatgacggcgcaggg	4	4	21	12	8	0	1	0	1	0	0	0	1	0	1	1	6	1	3	1	6	1	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.70G>A	p.Ala24Thr	p.A24T	ENST00000361069	1/28	62	57	5	73	73	0	varscan-mutect	LAMC3,missense_variant,p.Ala24Thr,ENST00000361069,NM_006059.3;LAMC3,non_coding_transcript_exon_variant,,ENST00000480883,;	A	ENST00000361069	Transcript	missense_variant	203/6133	70/4728	24/1575	A/T	Gcg/Acg		1		1	LAMC3	HGNC	HGNC:6494	protein_coding	YES	CCDS6938.1	ENSP00000354360	Q9Y6N6		UPI000013D6D3	NM_006059.3	tolerated(0.13)		1/28		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	55	131009284	131009284	G	A	1	0	0	0	0	1	0	0	0	8520	1087	38	1		1	LAMC3	9	131009284	Missense_Mutation	SNP	G	C3N-00556_TP	2881680	131009284	7385433	250	17604											
LAMC3	0	.	GRCh38	chr9	131073319	131073319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggcccgtgccctcgccagGaggtgagtcccaagacatgg	8	5	15	13	2	0	2	0	1	0	1	2	4	1	3	4	4	1	0	4	4	1	0			C3N-00556_TP	C3N-00556_NB	G	G																c.3492G>T	p.Arg1164Ser	p.R1164S	ENST00000361069	20/28	363	342	21	349	349	0	strelka-varscan-mutect	LAMC3,missense_variant,p.Arg1164Ser,ENST00000361069,NM_006059.3;LAMC3,intron_variant,,ENST00000480883,;	T	ENST00000361069	Transcript	missense_variant,splice_region_variant	3625/6133	3492/4728	1164/1575	R/S	agG/agT	COSM3654945	1		1	LAMC3	HGNC	HGNC:6494	protein_coding	YES	CCDS6938.1	ENSP00000354360	Q9Y6N6		UPI000013D6D3	NM_006059.3	tolerated(0.07)		20/28		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240											1						MODERATE	1	SNV	2		1	1										PASS		rs1365220452	.												T	3	4	55	131073319	131073319	G	T	1	0	0	0	0	1	0	0	0	8520	1188	41	2		2	LAMC3	9	131073319	Missense_Mutation	SNP	G	C3N-00556_TP	64035	131073319	7321398	251	17605											
C9orf172	0	.	GRCh38	chr9	136846622	136846622	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcccggtgcaccgcgctttCtcgcgcatcgcgcgtgtcgg	2	8	15	16	9	1	0	0	0	1	0	4	0	1	0	2	3	1	3	2	3	0	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2208C>G	p.Phe736Leu	p.F736L	ENST00000436881	1/1	124	89	35	117	117	0	strelka-varscan-mutect	C9orf172,missense_variant,p.Phe736Leu,ENST00000436881,NM_001080482.2;PHPT1,upstream_gene_variant,,ENST00000371661,NM_001287343.1,NM_001135861.2;PHPT1,upstream_gene_variant,,ENST00000247665,NM_014172.5,NM_001287342.1;MAMDC4,upstream_gene_variant,,ENST00000485732,;PHPT1,upstream_gene_variant,,ENST00000492540,;PHPT1,upstream_gene_variant,,ENST00000463215,;PHPT1,upstream_gene_variant,,ENST00000462205,;PHPT1,upstream_gene_variant,,ENST00000497413,;	G	ENST00000436881	Transcript	missense_variant	2208/4387	2208/2931	736/976	F/L	ttC/ttG		1		1	C9orf172	HGNC	HGNC:37284	protein_coding	YES	CCDS48059.1	ENSP00000412388	C9J069		UPI00015386B2	NM_001080482.2	tolerated(0.14)		1/1		hmmpanther:PTHR21517																	MODERATE		SNV				1										PASS		.	.												G	3	3	55	136846622	136846622	C	G	1	0	0	0	0	1	0	0	0	2179	912	32	4		4	C9orf172	9	136846622	Missense_Mutation	SNP	C	C3N-00556_TP	5773303	136846622	1548095	252	17606											
PTGDS	0	.	GRCh38	chr9	136980242	136980242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgccttctgcaaggccCagggcttcacagaggatacc	9	7	10	15	1	3	1	2	0	1	1	3	2	3	2	4	3	2	2	4	3	2	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.508C>A	p.Gln170Lys	p.Q170K	ENST00000371625	5/7	253	179	74	269	269	0	strelka-varscan-mutect	PTGDS,missense_variant,p.Gln170Lys,ENST00000371625,NM_000954.5;PTGDS,missense_variant,p.Gln103Lys,ENST00000446677,;LCNL1,upstream_gene_variant,,ENST00000408973,NM_207510.3;PTGDS,downstream_gene_variant,,ENST00000457950,;PTGDS,upstream_gene_variant,,ENST00000444903,;RP11-229P13.19,downstream_gene_variant,,ENST00000413913,;PTGDS,missense_variant,p.Gln170Lys,ENST00000471521,;PTGDS,non_coding_transcript_exon_variant,,ENST00000492068,;PTGDS,non_coding_transcript_exon_variant,,ENST00000462514,;LCNL1,upstream_gene_variant,,ENST00000482657,;LCNL1,upstream_gene_variant,,ENST00000460177,;LCNL1,upstream_gene_variant,,ENST00000432827,;PTGDS,downstream_gene_variant,,ENST00000371623,;PTGDS,downstream_gene_variant,,ENST00000460340,;	A	ENST00000371625	Transcript	missense_variant	582/807	508/573	170/190	Q/K	Cag/Aag		1		1	PTGDS	HGNC	HGNC:9592	protein_coding	YES	CCDS7019.1	ENSP00000360687	P41222	A0A024R8G3	UPI00001317A4	NM_000954.5	tolerated(0.17)		5/7		Gene3D:2.40.128.20,Pfam_domain:PF00061,Prints_domain:PR01254,hmmpanther:PTHR11430,hmmpanther:PTHR11430:SF86,Superfamily_domains:SSF50814																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	136980242	136980242	C	A	1	0	0	0	0	1	0	0	0	12896	595	21	2		2	PTGDS	9	136980242	Missense_Mutation	SNP	C	C3N-00556_TP	133620	136980242	1414475	253	17607											
ANAPC2	0	.	GRCh38	chr9	137175280	137175280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggcctgggaggccatgccgGagtcgctctcgtcgtcactg	4	8	15	14	5	2	0	1	0	1	0	5	2	2	2	3	4	1	1	3	4	0	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2213C>T	p.Ser738Phe	p.S738F	ENST00000323927	12/13	198	185	13	223	222	1	strelka-varscan-mutect	ANAPC2,missense_variant,p.Ser738Phe,ENST00000323927,NM_013366.3;TMEM210,upstream_gene_variant,,ENST00000413619,NM_001282477.1;RP11-350O14.18,upstream_gene_variant,,ENST00000568665,;ANAPC2,non_coding_transcript_exon_variant,,ENST00000483432,;TMEM210,upstream_gene_variant,,ENST00000430332,;ANAPC2,downstream_gene_variant,,ENST00000485970,;ANAPC2,non_coding_transcript_exon_variant,,ENST00000487917,;ANAPC2,non_coding_transcript_exon_variant,,ENST00000493730,;TMEM210,upstream_gene_variant,,ENST00000535352,;TMEM210,upstream_gene_variant,,ENST00000427366,;	A	ENST00000323927	Transcript	missense_variant	2218/2632	2213/2469	738/822	S/F	tCc/tTc		1		-1	ANAPC2	HGNC	HGNC:19989	protein_coding	YES	CCDS7033.1	ENSP00000314004	Q9UJX6		UPI0000043E1B	NM_013366.3	deleterious(0)		12/13		hmmpanther:PTHR11932:SF73,hmmpanther:PTHR11932																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	137175280	137175280	G	A	1	0	0	0	0	1	0	0	0	701	1174	41	3		3	ANAPC2	9	137175280	Missense_Mutation	SNP	G	C3N-00556_TP	195038	137175280	1219437	254	17608											
SFMBT2	0	.	GRCh38	chr10	7220498	7220498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcctggggttcacagcttCaagtttcatgttctttgtga	7	17	9	8	0	4	1	3	1	1	0	5	1	5	1	1	2	1	4	1	2	1	6	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1243G>A	p.Glu415Lys	p.E415K	ENST00000397167	11/21	187	140	47	219	219	0	strelka-varscan-mutect	SFMBT2,missense_variant,p.Glu415Lys,ENST00000397167,NM_001029880.2;SFMBT2,missense_variant,p.Glu415Lys,ENST00000361972,NM_001018039.1;	T	ENST00000397167	Transcript	missense_variant	1436/8024	1243/2685	415/894	E/K	Gaa/Aaa		1		-1	SFMBT2	HGNC	HGNC:20256	protein_coding	YES	CCDS31138.1	ENSP00000380353	Q5VUG0		UPI00001C1EDF	NM_001029880.2	deleterious(0.01)		11/21		PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62,Pfam_domain:PF02820,Gene3D:2.30.30.160,SMART_domains:SM00561,Superfamily_domains:SSF63748																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	55	7220498	7220498	C	T	1	0	0	0	0	1	0	0	0	14436	835	29	3		3	SFMBT2	10	7220498	Missense_Mutation	SNP	C	C3N-00556_TP		7220498	126576924	255	17609											
ITIH5	0	.	GRCh38	chr10	7577002	7577002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggagcggggtcctgatttCatcgtagaacctgcagtgga	9	9	15	8	2	1	2	1	1	0	1	3	5	2	4	2	4	3	2	2	4	2	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1429G>A	p.Glu477Lys	p.E477K	ENST00000397146	10/14	59	55	4	73	73	0	strelka-varscan	ITIH5,missense_variant,p.Glu477Lys,ENST00000397146,NM_030569.6;ITIH5,missense_variant,p.Glu477Lys,ENST00000397145,NM_001001851.2;ITIH5,missense_variant,p.Glu263Lys,ENST00000613909,NM_032817.5;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;ITIH5,3_prime_UTR_variant,,ENST00000461751,;ITIH5,non_coding_transcript_exon_variant,,ENST00000476417,;ITIH5,non_coding_transcript_exon_variant,,ENST00000468389,;ITIH5,upstream_gene_variant,,ENST00000492668,;	T	ENST00000397146	Transcript	missense_variant	1508/6721	1429/2829	477/942	E/K	Gaa/Aaa		1		-1	ITIH5	HGNC	HGNC:21449	protein_coding	YES		ENSP00000380333		C9J2H1	UPI000014D02E	NM_030569.6	deleterious(0)		10/14		PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF62,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	7577002	7577002	C	T	1	0	0	0	0	1	0	0	0	7813	835	29	3		3	ITIH5	10	7577002	Missense_Mutation	SNP	C	C3N-00556_TP	356504	7577002	126220420	256	17610											
FRMD4A	0	.	GRCh38	chr10	13858875	13858875	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttccagcttcctgtcaTcaagaagatgtacttgacat	11	12	9	9	0	2	3	2	1	0	2	4	4	4	4	2	1	2	3	2	1	3	4	novel		C3N-00556_TP	C3N-00556_NB	T	T																c.83A>T	p.Asp28Val	p.D28V	ENST00000357447	3/25	219	208	11	238	238	0	strelka-varscan-mutect	FRMD4A,missense_variant,p.Asp28Val,ENST00000357447,NM_001318336.1,NM_018027.3;FRMD4A,missense_variant,p.Asp61Val,ENST00000264546,;FRMD4A,non_coding_transcript_exon_variant,,ENST00000342409,;	A	ENST00000357447	Transcript	missense_variant	452/6821	83/3120	28/1039	D/V	gAt/gTt		1		-1	FRMD4A	HGNC	HGNC:25491	protein_coding	YES	CCDS7101.1	ENSP00000350032	Q9P2Q2		UPI0000366665	NM_001318336.1,NM_018027.3	deleterious(0)		3/25		PROSITE_profiles:PS50057,hmmpanther:PTHR23281:SF12,hmmpanther:PTHR23281,Gene3D:3.10.20.90,Pfam_domain:PF09379,SMART_domains:SM00295,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	13858875	13858875	T	A	1	0	0	0	0	1	0	0	0	5921	1435	50	4		4	FRMD4A	10	13858875	Missense_Mutation	SNP	T	C3N-00556_TP	6281873	13858875	119938547	257	17611											
SLC18A3	0	.	GRCh38	chr10	49612018	49612018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctacgccatcgccgacatCtcctattcggtggcctacgc	6	10	9	16	5	2	0	0	0	2	0	5	1	2	0	4	2	2	0	4	2	3	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1278C>G	p.Ile426Met	p.I426M	ENST00000374115	1/1	167	154	13	175	175	0	strelka-varscan-mutect	SLC18A3,missense_variant,p.Ile426Met,ENST00000374115,NM_003055.2;CHAT,intron_variant,,ENST00000339797,NM_020984.3;CHAT,upstream_gene_variant,,ENST00000395562,NM_001142933.1;CHAT,upstream_gene_variant,,ENST00000337653,NM_020549.4;CHAT,upstream_gene_variant,,ENST00000351556,NM_020985.3,NM_001142934.1,NM_001142929.1;CHAT,upstream_gene_variant,,ENST00000395559,NM_020986.3;CHAT,upstream_gene_variant,,ENST00000460699,;CHAT,upstream_gene_variant,,ENST00000490270,;CHAT,upstream_gene_variant,,ENST00000481336,;CHAT,upstream_gene_variant,,ENST00000466590,;	G	ENST00000374115	Transcript	missense_variant	1718/2420	1278/1599	426/532	I/M	atC/atG		1		1	SLC18A3	HGNC	HGNC:10936	protein_coding	YES	CCDS7231.1	ENSP00000363229	Q16572		UPI00001F98C1	NM_003055.2	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR23506,hmmpanther:PTHR23506:SF13,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	MODERATE		SNV				1										PASS		.	.												G	3	3	55	49612018	49612018	C	G	1	0	0	0	0	1	0	0	0	14692	903	32	4		4	SLC18A3	10	49612018	Missense_Mutation	SNP	C	C3N-00556_TP	35753143	49612018	84185404	258	17612											
TIMM23B	0	.	GRCh38	chr10	49952175	49952175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctaataaaacctggggcaGatttgagctggccttcttta	11	12	10	8	0	1	2	0	1	1	1	1	2	1	2	2	3	3	3	2	3	4	6	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.215G>C	p.Arg72Thr	p.R72T	ENST00000374098	3/7	200	187	13	245	245	0	varscan-mutect	TIMM23B,missense_variant,p.Arg72Thr,ENST00000451577,NM_001290118.1;TIMM23B,missense_variant,p.Arg72Thr,ENST00000374098,NM_001290117.1;PARG,intron_variant,,ENST00000402038,NM_001324381.1;SNORA74,upstream_gene_variant,,ENST00000411179,;TIMM23B,3_prime_UTR_variant,,ENST00000478381,;TIMM23B,3_prime_UTR_variant,,ENST00000483296,;	C	ENST00000374098	Transcript	missense_variant	377/1142	215/567	72/188	R/T	aGa/aCa		1		1	TIMM23B	HGNC	HGNC:23581	protein_coding	YES	CCDS73131.1	ENSP00000363211	Q5SRD1		UPI000387CD3B	NM_001290117.1	deleterious(0)		3/7		hmmpanther:PTHR15371,hmmpanther:PTHR15371:SF4,TIGRFAM_domain:TIGR00983																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	55	49952175	49952175	G	C	1	0	0	0	0	1	0	0	0	16351	942	33	4		4	TIMM23B	10	49952175	Missense_Mutation	SNP	G	C3N-00556_TP	340157	49952175	83845247	259	17613											
FAM13C	0	.	GRCh38	chr10	59252986	59252986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggacggtcttcatcagagtCctcttcctcctgcttatcac	6	14	7	14	1	5	1	3	0	2	1	8	2	8	2	3	2	1	1	3	2	1	3			C3N-00556_TP	C3N-00556_NB	C	C																c.1345G>T	p.Asp449Tyr	p.D449Y	ENST00000618804	12/14	196	168	28	298	297	1	strelka-varscan-mutect	FAM13C,missense_variant,p.Asp365Tyr,ENST00000618427,NM_001166698.1;FAM13C,missense_variant,p.Asp469Tyr,ENST00000621119,;FAM13C,missense_variant,p.Asp470Tyr,ENST00000614220,;FAM13C,missense_variant,p.Asp449Tyr,ENST00000618804,NM_198215.3;FAM13C,missense_variant,p.Asp351Tyr,ENST00000611933,NM_001001971.2;FAM13C,missense_variant,p.Asp366Tyr,ENST00000468840,NM_001143773.1;FAM13C,missense_variant,p.Asp449Tyr,ENST00000435852,;FAM13C,downstream_gene_variant,,ENST00000422313,;FAM13C,3_prime_UTR_variant,,ENST00000622363,;FAM13C,3_prime_UTR_variant,,ENST00000489341,;	A	ENST00000618804	Transcript	missense_variant	1435/3333	1345/1758	449/585	D/Y	Gac/Tac	COSM3439126	1		-1	FAM13C	HGNC	HGNC:19371	protein_coding	YES	CCDS7255.1	ENSP00000481854	Q8NE31		UPI00001AEA18	NM_198215.3	deleterious(0)		12/14		hmmpanther:PTHR15904:SF19,hmmpanther:PTHR15904											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	55	59252986	59252986	C	A	1	0	0	0	0	1	0	0	0	5303	855	30	2		2	FAM13C	10	59252986	Missense_Mutation	SNP	C	C3N-00556_TP	9300811	59252986	74544436	260	17614											
ANK3	0	.	GRCh38	chr10	60068865	60068865	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccacaagctttaaggtctCaccactaattcccttaaaat	13	12	4	12	0	1	0	1	0	1	0	4	0	3	0	3	1	1	1	3	1	5	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.12016G>C	p.Glu4006Gln	p.E4006Q	ENST00000280772	37/44	172	163	9	217	217	0	strelka-varscan-mutect	ANK3,missense_variant,p.Glu4006Gln,ENST00000280772,NM_020987.3;ANK3,intron_variant,,ENST00000373827,NM_001204403.1;ANK3,intron_variant,,ENST00000503366,NM_001204404.1;ANK3,intron_variant,,ENST00000610321,;ANK3,intron_variant,,ENST00000355288,NM_001149.3;ANK3,intron_variant,,ENST00000616444,;ANK3,intron_variant,,ENST00000373820,;ANK3,intron_variant,,ENST00000610901,;ANK3,intron_variant,,ENST00000613207,;ANK3,intron_variant,,ENST00000511043,;ANK3,upstream_gene_variant,,ENST00000459732,;ANK3,upstream_gene_variant,,ENST00000514197,;ANK3,synonymous_variant,p.=,ENST00000621739,;	G	ENST00000280772	Transcript	missense_variant	12208/16874	12016/13134	4006/4377	E/Q	Gag/Cag		1		-1	ANK3	HGNC	HGNC:494	protein_coding	YES	CCDS7258.1	ENSP00000280772	Q12955		UPI0000141BA9	NM_020987.3	deleterious_low_confidence(0.03)		37/44		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	60068865	60068865	C	G	1	0	0	0	0	1	0	0	0	722	835	29	4		4	ANK3	10	60068865	Missense_Mutation	SNP	C	C3N-00556_TP	815879	60068865	73728557	261	17615											
SIRT1	0	.	GRCh38	chr10	67891431	67891431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtggaatacctgacttCaggtcaagggatggtattta	11	13	11	6	0	3	1	3	1	0	0	3	3	3	3	1	4	1	1	1	4	5	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.819C>A	p.Phe273Leu	p.F273L	ENST00000212015	4/9	171	156	15	220	220	0	strelka-varscan-mutect	SIRT1,missense_variant,p.Phe273Leu,ENST00000212015,NM_012238.4;SIRT1,5_prime_UTR_variant,,ENST00000432464,NM_001142498.1;SIRT1,upstream_gene_variant,,ENST00000406900,NM_001314049.1;SIRT1,non_coding_transcript_exon_variant,,ENST00000497639,;SIRT1,non_coding_transcript_exon_variant,,ENST00000473922,;	A	ENST00000212015	Transcript	missense_variant	872/4094	819/2244	273/747	F/L	ttC/ttA		1		1	SIRT1	HGNC	HGNC:14929	protein_coding	YES	CCDS7273.1	ENSP00000212015	Q96EB6	A0A024QZQ1	UPI0000073E1A	NM_012238.4	deleterious(0)		4/9		PROSITE_profiles:PS50305,hmmpanther:PTHR11085,hmmpanther:PTHR11085:SF15,Gene3D:3.30.1600.10,Pfam_domain:PF02146,Superfamily_domains:SSF52467																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	67891431	67891431	C	A	1	0	0	0	0	1	0	0	0	14600	825	29	2		2	SIRT1	10	67891431	Missense_Mutation	SNP	C	C3N-00556_TP	7822566	67891431	65905991	262	17616											
HNRNPH3	0	.	GRCh38	chr10	68341210	68341210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccaatacgagttcatattGatattggagctgatggcaga	13	12	10	6	1	1	3	1	2	0	1	2	5	2	4	1	2	2	3	1	2	4	6	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.676G>C	p.Asp226His	p.D226H	ENST00000265866	7/10	130	116	14	136	136	0	varscan-mutect	HNRNPH3,missense_variant,p.Asp226His,ENST00000265866,NM_001322442.1,NM_001322436.1,NM_001322443.1,NM_001322434.1,NM_012207.2;HNRNPH3,missense_variant,p.Asp211His,ENST00000354695,NM_021644.3;RUFY2,missense_variant,p.Gln117Glu,ENST00000463210,;RUFY2,downstream_gene_variant,,ENST00000388768,NM_017987.4;RUFY2,downstream_gene_variant,,ENST00000602465,;RUFY2,downstream_gene_variant,,ENST00000265865,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000469172,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000481819,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000491200,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000490442,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000478698,;HNRNPH3,non_coding_transcript_exon_variant,,ENST00000480987,;RUFY2,non_coding_transcript_exon_variant,,ENST00000484083,;HNRNPH3,downstream_gene_variant,,ENST00000461310,;HNRNPH3,downstream_gene_variant,,ENST00000486854,;RUFY2,downstream_gene_variant,,ENST00000473398,;HNRNPH3,downstream_gene_variant,,ENST00000467249,;RUFY2,3_prime_UTR_variant,,ENST00000466493,;RUFY2,downstream_gene_variant,,ENST00000466187,;	C	ENST00000265866	Transcript	missense_variant	841/2339	676/1041	226/346	D/H	Gat/Cat		1		1	HNRNPH3	HGNC	HGNC:5043	protein_coding	YES	CCDS7278.1	ENSP00000265866	P31942	A0A024QZK8	UPI0000134539	NM_001322442.1,NM_001322436.1,NM_001322443.1,NM_001322434.1,NM_012207.2	tolerated(0.05)		7/10		PROSITE_profiles:PS50102,hmmpanther:PTHR13976:SF36,hmmpanther:PTHR13976,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		rs995618284	.												C	3	2	55	68341210	68341210	G	C	1	0	0	0	0	1	0	0	0	7162	1290	45	4		4	HNRNPH3	10	68341210	Missense_Mutation	SNP	G	C3N-00556_TP	449779	68341210	65456212	263	17617											
DNA2	0	.	GRCh38	chr10	68445084	68445084	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttcttagctttaataattCtatgaaaaaaaaggtgaatg	16	15	7	3	0	2	2	0	2	2	0	2	2	2	2	0	1	1	2	0	1	9	7	rs771783178		C3N-00556_TP	C3N-00556_NB	C	C																c.1058-1G>A		p.X353_splice	ENST00000358410		68	48	20	83	83	0	strelka-varscan-mutect	DNA2,splice_acceptor_variant,,ENST00000358410,NM_001080449.2;DNA2,splice_acceptor_variant,,ENST00000551118,;DNA2,splice_acceptor_variant,,ENST00000399180,;DNA2,splice_acceptor_variant,,ENST00000399179,;DNA2,upstream_gene_variant,,ENST00000478029,;	T	ENST00000358410	Transcript	splice_acceptor_variant	-/4208	1058/3183	353/1060			rs771783178,COSM3931103,COSM3931104	1		-1	DNA2	HGNC	HGNC:2939	protein_coding	YES	CCDS44415.2	ENSP00000351185	P51530		UPI00001C1EDB	NM_001080449.2				7/20												0,1,1						HIGH	1	SNV	1		0,1,1	1										PASS		rs771783178	.												T	5	4	55	68445084	68445084	C	T	1	0	0	0	0	0	0	1	0	4405	927	32	3		3	DNA2	10	68445084	Splice_Site	SNP	C	C3N-00556_TP	103874	68445084	65352338	264	17618											
DDX21	0	.	GRCh38	chr10	68970204	68970204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcttcttacataagcatCtggctattaagtgccactgg	9	16	7	9	0	3	0	0	0	3	0	3	0	3	0	1	2	3	2	1	2	4	7	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1240C>T	p.=	p.L414L	ENST00000354185	8/15	94	80	14	84	84	0	strelka-varscan-mutect	DDX21,synonymous_variant,p.=,ENST00000620315,NM_001256910.1;DDX21,synonymous_variant,p.=,ENST00000354185,NM_004728.3;	T	ENST00000354185	Transcript	synonymous_variant	1338/4711	1240/2352	414/783	L	Ctg/Ttg		1		1	DDX21	HGNC	HGNC:2744	protein_coding	YES	CCDS31211.1	ENSP00000346120	Q9NR30		UPI00001A92E8	NM_004728.3			8/15		Gene3D:3.40.50.300,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF237,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	68970204	68970204	C	T	1	0	0	0	0	0	0	0	1	4152	927	32	3		3	DDX21	10	68970204	Silent	SNP	C	C3N-00556_TP	525120	68970204	64827218	265	17619											
SEC24C	0	.	GRCh38	chr10	73760122	73760122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttagccaggcccaaggtCatcctgggatccagactccc	8	7	9	17	0	1	1	1	0	0	1	4	2	4	2	6	3	1	0	6	3	2	1			C3N-00556_TP	C3N-00556_NB	C	C																c.586C>T	p.His196Tyr	p.H196Y	ENST00000339365	6/24	153	142	11	146	146	0	strelka-varscan-mutect	SEC24C,missense_variant,p.His196Tyr,ENST00000339365,NM_004922.3;SEC24C,missense_variant,p.His196Tyr,ENST00000345254,NM_198597.2;SEC24C,missense_variant,p.His5Tyr,ENST00000634508,;SEC24C,missense_variant,p.His196Tyr,ENST00000465076,;SEC24C,synonymous_variant,p.=,ENST00000635550,;	T	ENST00000339365	Transcript	missense_variant	748/4513	586/3285	196/1094	H/Y	Cat/Tat	COSM5147184	1		1	SEC24C	HGNC	HGNC:10705	protein_coding	YES	CCDS7332.1	ENSP00000343405	P53992	A0A024QZM6	UPI000013F621	NM_004922.3	tolerated(1)		6/24		hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF5											1						MODERATE	1	SNV	5		1	1										PASS		rs1406595070	.												T	3	4	55	73760122	73760122	C	T	1	0	0	0	0	1	0	0	0	14273	826	29	3		3	SEC24C	10	73760122	Missense_Mutation	SNP	C	C3N-00556_TP	4789918	73760122	60037300	266	17620											
C10orf55	0	.	GRCh38	chr10	73911768	73911768	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggtggcagcggaggctTgagaaccacgggggttggca	9	5	19	8	2	0	1	0	1	0	1	0	3	0	2	1	7	2	4	1	7	1	2	novel		C3N-00556_TP	C3N-00556_NB	T	T																c.373A>T	p.Lys125Ter	p.K125*	ENST00000412307	4/4	201	161	40	237	237	0	strelka-varscan-mutect	C10orf55,stop_gained,p.Lys125Ter,ENST00000412307,NM_001001791.2;PLAU,5_prime_UTR_variant,,ENST00000446342,NM_001145031.1;PLAU,intron_variant,,ENST00000372764,NM_001319191.1,NM_002658.3;PLAU,intron_variant,,ENST00000481390,;C10orf55,non_coding_transcript_exon_variant,,ENST00000409178,;PLAU,intron_variant,,ENST00000494287,;PLAU,downstream_gene_variant,,ENST00000496926,;	A	ENST00000412307	Transcript	stop_gained	570/2360	373/456	125/151	K/*	Aag/Tag		1		-1	C10orf55	HGNC	HGNC:31008	protein_coding	YES	CCDS53541.1	ENSP00000409225	Q5SWW7		UPI0000470217	NM_001001791.2			4/4		Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	55	73911768	73911768	T	A	1	0	0	0	0	0	1	0	0	1766	1821	63	4		4	C10orf55	10	73911768	Nonsense_Mutation	SNP	T	C3N-00556_TP	151646	73911768	59885654	267	17621											
CYP2C18	0	.	GRCh38	chr10	94688217	94688217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggatggggaagaggagcatcGaggaccgtgttcaagaggaa	13	5	18	5	2	1	2	1	0	0	2	2	8	1	7	1	6	1	2	1	6	3	1	rs767161951		C3N-00556_TP	C3N-00556_NB	G	G																c.424G>C	p.Glu142Gln	p.E142Q	ENST00000285979	3/9	217	203	14	239	239	0	varscan-mutect	CYP2C18,missense_variant,p.Glu142Gln,ENST00000285979,NM_000772.2;CYP2C18,missense_variant,p.Glu142Gln,ENST00000339022,NM_001128925.1;RP11-400G3.5,missense_variant,p.Glu22Gln,ENST00000464755,;	C	ENST00000285979	Transcript	missense_variant	623/2418	424/1473	142/490	E/Q	Gag/Cag	rs767161951	1		1	CYP2C18	HGNC	HGNC:2620	protein_coding	YES	CCDS7435.1	ENSP00000285979	P33260		UPI000013DE1D	NM_000772.2	deleterious(0)		3/9		hmmpanther:PTHR24300:SF123,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		rs767161951	.												C	3	2	55	94688217	94688217	G	C	1	0	0	0	0	1	0	0	0	3968	1059	37	4		4	CYP2C18	10	94688217	Missense_Mutation	SNP	G	C3N-00556_TP	20776449	94688217	39109205	268	17622											
CCNJ	0	.	GRCh38	chr10	96056870	96056870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccaacagccgcccatttCattgagtattatctctctga	9	14	5	13	1	3	2	1	2	2	0	5	2	4	2	3	0	2	1	3	0	3	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.450C>T	p.=	p.F150F	ENST00000465148	4/6	296	280	16	321	321	0	varscan-mutect	CCNJ,synonymous_variant,p.=,ENST00000265992,NM_019084.4;CCNJ,synonymous_variant,p.=,ENST00000403870,NM_001134376.1;CCNJ,synonymous_variant,p.=,ENST00000465148,NM_001134375.1;ENTPD1-AS1,intron_variant,,ENST00000416301,;ENTPD1-AS1,intron_variant,,ENST00000458228,;ENTPD1-AS1,intron_variant,,ENST00000454638,;ENTPD1-AS1,intron_variant,,ENST00000452728,;ENTPD1-AS1,intron_variant,,ENST00000427846,;ENTPD1-AS1,intron_variant,,ENST00000451364,;	T	ENST00000465148	Transcript	synonymous_variant	628/2677	450/1152	150/383	F	ttC/ttT		1		1	CCNJ	HGNC	HGNC:23434	protein_coding	YES	CCDS44462.1	ENSP00000435373	Q5T5M9		UPI00001F9448	NM_001134375.1			4/6		hmmpanther:PTHR10177:SF62,hmmpanther:PTHR10177,Pfam_domain:PF02984,Gene3D:1.10.472.10,SMART_domains:SM01332,Superfamily_domains:SSF47954																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	55	96056870	96056870	C	T	1	0	0	0	0	0	0	0	1	2627	825	29	3		3	CCNJ	10	96056870	Silent	SNP	C	C3N-00556_TP	1368653	96056870	37740552	269	17623											
MMS19	0	.	GRCh38	chr10	97465948	97465948	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctccgttagtcaaatttGactcccctgaaagcaaccca	12	10	5	14	1	2	2	1	2	1	0	4	2	3	2	4	0	2	2	4	0	4	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1613C>G	p.Ser538Ter	p.S538*	ENST00000438925	18/31	105	94	11	131	131	0	strelka-varscan-mutect	MMS19,stop_gained,p.Ser538Ter,ENST00000438925,NM_022362.4,NM_001289404.1;MMS19,stop_gained,p.Ser495Ter,ENST00000355839,NM_001289403.1;MMS19,stop_gained,p.Ser538Ter,ENST00000370782,NM_001289405.1;MMS19,stop_gained,p.Ser440Ter,ENST00000327238,;MMS19,stop_gained,p.Ser113Ter,ENST00000434538,;MMS19,downstream_gene_variant,,ENST00000437002,;MMS19,downstream_gene_variant,,ENST00000422685,;MMS19,downstream_gene_variant,,ENST00000483626,;MMS19,3_prime_UTR_variant,,ENST00000415383,;MMS19,3_prime_UTR_variant,,ENST00000434392,;MMS19,upstream_gene_variant,,ENST00000495415,;MMS19,downstream_gene_variant,,ENST00000441194,;MMS19,upstream_gene_variant,,ENST00000478452,;MMS19,upstream_gene_variant,,ENST00000480108,;	C	ENST00000438925	Transcript	stop_gained	1949/3797	1613/3093	538/1030	S/*	tCa/tGa		1		-1	MMS19	HGNC	HGNC:13824	protein_coding	YES	CCDS7464.1	ENSP00000412698	Q96T76		UPI000013DDF7	NM_022362.4,NM_001289404.1			18/31		hmmpanther:PTHR12891,Gene3D:1.25.10.10																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	55	97465948	97465948	G	C	1	0	0	0	0	0	1	0	0	9635	1294	45	4		4	MMS19	10	97465948	Nonsense_Mutation	SNP	G	C3N-00556_TP	1409078	97465948	36331474	270	17624											
R3HCC1L	0	.	GRCh38	chr10	98208128	98208128	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgccatgcagcaagaatCagagagatgcagagttagag	14	7	14	6	0	1	5	1	0	0	5	1	6	1	5	1	1	4	4	1	1	3	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.14C>G	p.Ser5Ter	p.S5*	ENST00000612478	3/9	111	105	6	152	152	0	strelka-varscan-mutect	R3HCC1L,stop_gained,p.Ser5Ter,ENST00000298999,NM_014472.4;R3HCC1L,stop_gained,p.Ser5Ter,ENST00000370584,NM_138469.2,NM_001256620.1;R3HCC1L,stop_gained,p.Ser5Ter,ENST00000612478,NM_001256619.1;R3HCC1L,stop_gained,p.Ser5Ter,ENST00000314594,;R3HCC1L,intron_variant,,ENST00000613938,;R3HCC1L,intron_variant,,ENST00000370586,NM_001256621.1;	G	ENST00000612478	Transcript	stop_gained	236/3337	14/2379	5/792	S/*	tCa/tGa		1		1	R3HCC1L	HGNC	HGNC:23512	protein_coding	YES	CCDS73178.1	ENSP00000483494		A0A087X0M0	UPI00001F94F3	NM_001256619.1			3/9																			HIGH	1	SNV	5			1										PASS		.	.												G	4	3	55	98208128	98208128	C	G	1	0	0	0	0	0	1	0	0	13043	838	29	4		4	R3HCC1L	10	98208128	Nonsense_Mutation	SNP	C	C3N-00556_TP	742180	98208128	35589294	271	17625											
COX15	0	.	GRCh38	chr10	99729685	99729685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagattgcaaagctacttcaGagatggtgctgtattgccct	10	12	10	9	0	1	2	1	0	0	2	1	3	1	2	1	1	5	4	1	1	3	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.140C>T	p.Ser47Phe	p.S47F	ENST00000016171	2/9	290	267	23	283	283	0	strelka-varscan-mutect	COX15,missense_variant,p.Ser47Phe,ENST00000370483,NM_004376.5;COX15,missense_variant,p.Ser47Phe,ENST00000016171,NM_078470.4;CUTC,upstream_gene_variant,,ENST00000370476,NM_015960.2;CUTC,upstream_gene_variant,,ENST00000370472,;CUTC,intron_variant,,ENST00000493385,;CUTC,upstream_gene_variant,,ENST00000471520,;	A	ENST00000016171	Transcript	missense_variant	191/2356	140/1233	47/410	S/F	tCt/tTt		1		-1	COX15	HGNC	HGNC:2263	protein_coding	YES	CCDS7482.1	ENSP00000016171	Q7KZN9		UPI000006E691	NM_078470.4	deleterious(0.01)		2/9		hmmpanther:PTHR23289																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	99729685	99729685	G	A	1	0	0	0	0	1	0	0	0	3559	942	33	3		3	COX15	10	99729685	Missense_Mutation	SNP	G	C3N-00556_TP	1521557	99729685	34067737	272	17626											
VWA2	0	.	GRCh38	chr10	114289538	114289538	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccccatggcaggccctCagcctgagccttcacataca	8	7	8	18	0	2	1	2	1	0	0	2	1	2	1	5	2	4	1	5	2	1	2	rs141684486		C3N-00556_TP	C3N-00556_NB	C	C																c.1259C>A	p.Ser420Ter	p.S420*	ENST00000603594	11/11	83	76	7	107	107	0	strelka-varscan-mutect	VWA2,stop_gained,p.Ser420Ter,ENST00000603594,;VWA2,intron_variant,,ENST00000392982,NM_001272046.1;VWA2,non_coding_transcript_exon_variant,,ENST00000298715,;	A	ENST00000603594	Transcript	stop_gained	2265/2600	1259/1266	420/421	S/*	tCa/tAa	rs141684486,COSM5036868	1		1	VWA2	HGNC	HGNC:24709	protein_coding			ENSP00000473752	Q5GFL6		UPI0000EA39F8				11/11													0,1						HIGH		SNV	1		0,1	1										PASS		rs141684486	.												A	4	1	55	114289538	114289538	C	A	1	0	0	0	0	0	1	0	0	17793	838	29	2		2	VWA2	10	114289538	Nonsense_Mutation	SNP	C	C3N-00556_TP	14559853	114289538	19507884	273	17627											
FRG2B	0	.	GRCh38	chr10	133626682	133626682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctgttggaaagggggctGgtcagtggagcactggatgg	8	9	19	5	0	2	0	1	0	1	0	2	4	2	3	0	7	1	3	0	7	1	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.61C>A	p.Gln21Lys	p.Q21K	ENST00000425520	1/4	250	216	34	289	289	0	varscan-mutect	FRG2B,missense_variant,p.Gln21Lys,ENST00000443774,;FRG2B,missense_variant,p.Gln21Lys,ENST00000425520,NM_001080998.1;	T	ENST00000425520	Transcript	missense_variant	114/890	61/837	21/278	Q/K	Cag/Aag		1		-1	FRG2B	HGNC	HGNC:33518	protein_coding	YES	CCDS44502.1	ENSP00000401310	Q96QU4		UPI00000727C6	NM_001080998.1	tolerated(0.12)		1/4		hmmpanther:PTHR31883,hmmpanther:PTHR31883:SF3,Prints_domain:PR02074																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	133626682	133626682	G	T	1	0	0	0	0	1	0	0	0	5916	1357	47	2		2	FRG2B	10	133626682	Missense_Mutation	SNP	G	C3N-00556_TP	19337144	133626682	170740	274	17628											
ANO9	0	.	GRCh38	chr11	418570	418570	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaaccaggcggcgatgagcTtgatgcacaaggccacgtgc	10	5	14	12	4	0	2	0	2	0	0	0	4	0	2	2	3	4	2	2	3	2	1	novel		C3N-00556_TP	C3N-00556_NB	T	T																c.2150A>G	p.Lys717Arg	p.K717R	ENST00000332826	23/23	138	124	14	150	150	0	strelka-varscan-mutect	ANO9,missense_variant,p.Lys717Arg,ENST00000332826,NM_001012302.2;SIGIRR,upstream_gene_variant,,ENST00000431843,NM_001135054.1;SIGIRR,upstream_gene_variant,,ENST00000332725,NM_021805.2,NM_001135053.1;SIGIRR,upstream_gene_variant,,ENST00000397632,;SIGIRR,upstream_gene_variant,,ENST00000528209,;SIGIRR,upstream_gene_variant,,ENST00000530494,;SIGIRR,upstream_gene_variant,,ENST00000528058,;SIGIRR,upstream_gene_variant,,ENST00000529486,;SIGIRR,upstream_gene_variant,,ENST00000534217,;SIGIRR,upstream_gene_variant,,ENST00000528116,;SIGIRR,upstream_gene_variant,,ENST00000525299,;SIGIRR,upstream_gene_variant,,ENST00000526788,;SIGIRR,upstream_gene_variant,,ENST00000527136,;ANO9,non_coding_transcript_exon_variant,,ENST00000532094,;ANO9,non_coding_transcript_exon_variant,,ENST00000526142,;ANO9,non_coding_transcript_exon_variant,,ENST00000528927,;ANO9,non_coding_transcript_exon_variant,,ENST00000534161,;ANO9,non_coding_transcript_exon_variant,,ENST00000524802,;SIGIRR,upstream_gene_variant,,ENST00000527295,;SIGIRR,upstream_gene_variant,,ENST00000525070,;ANO9,downstream_gene_variant,,ENST00000525804,;	C	ENST00000332826	Transcript	missense_variant	2235/2542	2150/2349	717/782	K/R	aAg/aGg		1		-1	ANO9	HGNC	HGNC:20679	protein_coding	YES	CCDS31326.1	ENSP00000332788	A1A5B4		UPI0001505B10	NM_001012302.2	deleterious(0.03)		23/23		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF37,Pfam_domain:PF04547																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	418570	418570	T	C	1	0	0	0	0	1	0	0	0	811	1609	56	5		5	ANO9	11	418570	Missense_Mutation	SNP	T	C3N-00556_TP		418570	134668052	275	17629											
RASSF7	0	.	GRCh38	chr11	562453	562453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagggtgcagaggaatgctGaggagctgggccatgaggcc	9	6	18	8	0	1	3	1	2	0	1	1	5	1	5	2	5	3	3	2	5	1	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.499G>A	p.Glu167Lys	p.E167K	ENST00000397583	3/6	297	272	25	320	320	0	strelka-varscan-mutect	RASSF7,missense_variant,p.Glu167Lys,ENST00000397583,NM_003475.3;RASSF7,missense_variant,p.Glu167Lys,ENST00000431809,;RASSF7,missense_variant,p.Glu167Lys,ENST00000397582,NM_001143993.1;RASSF7,missense_variant,p.Glu167Lys,ENST00000454668,NM_001143994.1;LMNTD2,upstream_gene_variant,,ENST00000329451,NM_173573.2;LMNTD2,upstream_gene_variant,,ENST00000441853,;LMNTD2,upstream_gene_variant,,ENST00000486629,;RASSF7,downstream_gene_variant,,ENST00000528736,;MIR210HG,downstream_gene_variant,,ENST00000500447,;MIR210HG,downstream_gene_variant,,ENST00000533920,;MIR210HG,downstream_gene_variant,,ENST00000528245,;RP11-496I9.1,downstream_gene_variant,,ENST00000527620,;RP11-496I9.1,downstream_gene_variant,,ENST00000533844,;RP11-496I9.1,downstream_gene_variant,,ENST00000527113,;RASSF7,non_coding_transcript_exon_variant,,ENST00000524468,;RASSF7,missense_variant,p.Glu24Lys,ENST00000531112,;RASSF7,3_prime_UTR_variant,,ENST00000414138,;LMNTD2,upstream_gene_variant,,ENST00000492515,;	A	ENST00000397583	Transcript	missense_variant	932/1928	499/1122	167/373	E/K	Gag/Aag		1		1	RASSF7	HGNC	HGNC:1166	protein_coding	YES	CCDS7702.1	ENSP00000380713	Q02833	A0A024RCE4	UPI0000127A61	NM_003475.3	tolerated(0.52)		3/6		hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	562453	562453	G	A	1	0	0	0	0	1	0	0	0	13252	1291	45	3		3	RASSF7	11	562453	Missense_Mutation	SNP	G	C3N-00556_TP	143883	562453	134524169	276	17630											
MUC5AC	0	.	GRCh38	chr11	1191095	1191095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactagcacaacctctggtcCtggaactactcccagccctg	10	8	7	16	0	1	0	0	0	1	0	3	1	3	1	4	2	6	1	4	2	5	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.12950C>A	p.Pro4317His	p.P4317H	ENST00000621226	31/49	419	392	27	506	506	0	varscan-mutect	MUC5AC,missense_variant,p.Pro4317His,ENST00000621226,NM_001304359.1;	A	ENST00000621226	Transcript	missense_variant	12997/17448	12950/16965	4317/5654	P/H	cCt/cAt		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	deleterious(0.02)		31/49		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	55	1191095	1191095	C	A	1	0	0	0	0	1	0	0	0	9978	681	24	2		2	MUC5AC	11	1191095	Missense_Mutation	SNP	C	C3N-00556_TP	628642	1191095	133895527	277	17631											
UBQLN3	0	.	GRCh38	chr11	5507598	5507598	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaataaggctcctacgacTgtctcagcttctccacagca	11	10	7	13	1	2	1	1	1	2	0	5	2	3	1	2	1	3	3	2	1	3	3	novel		C3N-00556_TP	C3N-00556_NB	T	T																c.1961A>T	p.Gln654Leu	p.Q654L	ENST00000311659	2/2	39	35	4	79	79	0	strelka-varscan-mutect	UBQLN3,missense_variant,p.Gln654Leu,ENST00000311659,NM_017481.2;HBG2,intron_variant,,ENST00000380259,;HBE1,upstream_gene_variant,,ENST00000380237,;UBQLN3,downstream_gene_variant,,ENST00000445998,;HBG2,upstream_gene_variant,,ENST00000380252,;HBE1,upstream_gene_variant,,ENST00000396895,;AC104389.28,upstream_gene_variant,,ENST00000415970,;AC104389.28,upstream_gene_variant,,ENST00000418729,;AC104389.28,upstream_gene_variant,,ENST00000420465,;AC104389.28,upstream_gene_variant,,ENST00000420726,;	A	ENST00000311659	Transcript	missense_variant	2109/2407	1961/1968	654/655	Q/L	cAg/cTg		1		-1	UBQLN3	HGNC	HGNC:12510	protein_coding	YES	CCDS7758.1	ENSP00000347997	Q9H347	A0A140VJZ3	UPI000006E3A0	NM_017481.2	deleterious(0)		2/2		PROSITE_profiles:PS50030,hmmpanther:PTHR10677:SF4,hmmpanther:PTHR10677,SMART_domains:SM00165,Superfamily_domains:SSF46934																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	5507598	5507598	T	A	1	0	0	0	0	1	0	0	0	17422	1580	55	4		4	UBQLN3	11	5507598	Missense_Mutation	SNP	T	C3N-00556_TP	4316503	5507598	129579024	278	17632											
CSNK2A3	0	.	GRCh38	chr11	11352703	11352703	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatccagggccttcagaatCtcatacatgtaaaatcgaat	15	11	6	9	1	2	1	2	0	1	1	5	2	3	1	2	1	1	1	2	1	6	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.417G>C	p.Glu139Asp	p.E139D	ENST00000528848	1/1	407	375	32	534	534	0	strelka-varscan-mutect	CSNK2A3,missense_variant,p.Glu139Asp,ENST00000528848,NM_001256686.1;GALNT18,intron_variant,,ENST00000227756,NM_198516.2;RP11-567I13.1,non_coding_transcript_exon_variant,,ENST00000526867,;	G	ENST00000528848	Transcript	missense_variant	655/1416	417/1176	139/391	E/D	gaG/gaC		1		-1	CSNK2A3	HGNC	HGNC:2458	protein_coding	YES	CCDS59224.1	ENSP00000473553	Q8NEV1		UPI00001F9D63	NM_001256686.1	deleterious(0.03)		1/1		PROSITE_profiles:PS50011,hmmpanther:PTHR24054:SF16,hmmpanther:PTHR24054,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE		SNV				1										PASS		.	.												G	3	3	55	11352703	11352703	C	G	1	0	0	0	0	1	0	0	0	3759	912	32	4		4	CSNK2A3	11	11352703	Missense_Mutation	SNP	C	C3N-00556_TP	5845105	11352703	123733919	279	17633											
SPON1	0	.	GRCh38	chr11	14041530	14041530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttttccgtagatcatagacGaagaagaaactcagtttatg	14	12	9	6	2	2	4	2	0	0	4	3	5	3	4	1	0	1	3	1	0	6	6			C3N-00556_TP	C3N-00556_NB	G	G																c.355G>A	p.Glu119Lys	p.E119K	ENST00000576479	3/16	87	82	5	115	115	0	varscan-mutect	SPON1,missense_variant,p.Glu119Lys,ENST00000576479,NM_006108.3;	A	ENST00000576479	Transcript	missense_variant	571/4837	355/2424	119/807	E/K	Gaa/Aaa	COSM5689055	1		1	SPON1	HGNC	HGNC:11252	protein_coding	YES	CCDS73262.1	ENSP00000460236	Q9HCB6		UPI000044404A	NM_006108.3	tolerated(0.26)		3/16		PROSITE_profiles:PS51019,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF18,Pfam_domain:PF02014											1						MODERATE	1	SNV	1		1	1										PASS		rs1287325735	.												A	3	1	55	14041530	14041530	G	A	1	0	0	0	0	1	0	0	0	15435	1059	37	1		1	SPON1	11	14041530	Missense_Mutation	SNP	G	C3N-00556_TP	2688827	14041530	121045092	280	17634											
SPON1	0	.	GRCh38	chr11	14262782	14262782	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgtgggaaaggccacgtGattcgaacccggatgatcca	11	8	12	10	3	1	2	1	2	0	0	3	5	2	4	3	3	1	0	3	3	2	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2067G>A	p.=	p.V689V	ENST00000576479	15/16	259	238	21	340	340	0	strelka-varscan-mutect	SPON1,synonymous_variant,p.=,ENST00000576479,NM_006108.3;RP11-21L19.1,downstream_gene_variant,,ENST00000534587,;SPON1,non_coding_transcript_exon_variant,,ENST00000591785,;	A	ENST00000576479	Transcript	synonymous_variant	2283/4837	2067/2424	689/807	V	gtG/gtA		1		1	SPON1	HGNC	HGNC:11252	protein_coding	YES	CCDS73262.1	ENSP00000460236	Q9HCB6		UPI000044404A	NM_006108.3			15/16		PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF18,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	14262782	14262782	G	A	1	0	0	0	0	0	0	0	1	15435	1277	45	3		3	SPON1	11	14262782	Silent	SNP	G	C3N-00556_TP	221252	14262782	120823840	281	17635											
TCP11L1	0	.	GRCh38	chr11	33057966	33057966	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catactagactgagaaaccaGataacagaagtcttggatct	16	9	8	8	0	2	4	0	1	2	4	2	6	2	5	1	1	3	0	1	1	5	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.465G>C	p.Gln155His	p.Q155H	ENST00000334274	5/10	212	199	13	228	228	0	strelka-varscan-mutect	TCP11L1,missense_variant,p.Gln155His,ENST00000334274,NM_018393.3;TCP11L1,missense_variant,p.Gln155His,ENST00000432887,NM_001145541.1;TCP11L1,missense_variant,p.Gln155His,ENST00000531632,;TCP11L1,downstream_gene_variant,,ENST00000530419,;TCP11L1,downstream_gene_variant,,ENST00000602733,;TCP11L1,non_coding_transcript_exon_variant,,ENST00000530171,;TCP11L1,missense_variant,p.Gln155His,ENST00000527661,;TCP11L1,3_prime_UTR_variant,,ENST00000528107,;	C	ENST00000334274	Transcript	missense_variant	865/2817	465/1530	155/509	Q/H	caG/caC		1		1	TCP11L1	HGNC	HGNC:25655	protein_coding	YES	CCDS7882.1	ENSP00000335595	Q9NUJ3		UPI0000071A1F	NM_018393.3	deleterious(0.02)		5/10		Pfam_domain:PF05794,hmmpanther:PTHR12832,hmmpanther:PTHR12832:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	33057966	33057966	G	C	1	0	0	0	0	1	0	0	0	16121	933	33	4		4	TCP11L1	11	33057966	Missense_Mutation	SNP	G	C3N-00556_TP	18795184	33057966	102028656	282	17636											
CKAP5	0	.	GRCh38	chr11	46770063	46770063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatgttaactttggctttCtctagcatggccaatacctg	8	14	9	10	0	1	0	0	0	1	0	2	0	1	0	2	3	3	4	2	3	4	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.3222G>A	p.=	p.E1074E	ENST00000529230	26/44	272	258	14	313	313	0	strelka-varscan-mutect	CKAP5,synonymous_variant,p.=,ENST00000529230,NM_001008938.3;CKAP5,synonymous_variant,p.=,ENST00000312055,NM_014756.3;CKAP5,synonymous_variant,p.=,ENST00000354558,;CKAP5,non_coding_transcript_exon_variant,,ENST00000533413,;CKAP5,non_coding_transcript_exon_variant,,ENST00000526943,;	T	ENST00000529230	Transcript	synonymous_variant	3269/7121	3222/6099	1074/2032	E	gaG/gaA		1		-1	CKAP5	HGNC	HGNC:28959	protein_coding	YES	CCDS31477.1	ENSP00000432768	Q14008		UPI000013F21E	NM_001008938.3			26/44		hmmpanther:PTHR12609:SF0,hmmpanther:PTHR12609,SMART_domains:SM01349																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	55	46770063	46770063	C	T	1	0	0	0	0	0	0	0	1	3208	912	32	3		3	CKAP5	11	46770063	Silent	SNP	C	C3N-00556_TP	13712097	46770063	88316559	283	17637											
OR5D18	0	.	GRCh38	chr11	55820565	55820565	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggacaccaaagtcttctcTtactgagcctgttactttca	9	14	6	12	0	3	1	1	1	2	0	4	2	3	2	2	1	3	1	2	1	3	4	novel		C3N-00556_TP	C3N-00556_NB	T	T																c.936T>G	p.=	p.S312S	ENST00000333976	1/1	56	45	11	102	102	0	strelka-varscan-mutect	OR5D18,synonymous_variant,p.=,ENST00000333976,NM_001001952.1;	G	ENST00000333976	Transcript	synonymous_variant	936/942	936/942	312/313	S	tcT/tcG		1		1	OR5D18	HGNC	HGNC:15285	protein_coding	YES	CCDS31510.1	ENSP00000335025	Q8NGL1		UPI0000046197	NM_001001952.1			1/1																			LOW	1	SNV				1										PASS		.	.												G	2	3	55	55820565	55820565	T	G	1	0	0	0	0	0	0	0	1	11227	1596	56	5		5	OR5D18	11	55820565	Silent	SNP	T	C3N-00556_TP	9050502	55820565	79266057	284	17638											
MS4A2	0	.	GRCh38	chr11	60093972	60093972	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgttcaataggaaattgtAgtgatgatgctgtttctcac	10	15	10	6	0	2	2	2	2	1	0	3	3	2	3	0	1	1	5	0	1	4	5	novel		C3N-00556_TP	C3N-00556_NB	A	A																c.546A>T	p.=	p.V182V	ENST00000278888	6/7	309	272	37	381	381	0	strelka-mutect	MS4A2,synonymous_variant,p.=,ENST00000617306,NM_001256916.1;MS4A2,synonymous_variant,p.=,ENST00000278888,NM_000139.4;MS4A2,downstream_gene_variant,,ENST00000524868,;MS4A2,non_coding_transcript_exon_variant,,ENST00000440896,;	T	ENST00000278888	Transcript	synonymous_variant	648/1152	546/735	182/244	V	gtA/gtT		1		1	MS4A2	HGNC	HGNC:7316	protein_coding	YES	CCDS7980.1	ENSP00000278888	Q01362		UPI0000038E6F	NM_000139.4			6/7		Transmembrane_helices:TMhelix,hmmpanther:PTHR23320:SF66,hmmpanther:PTHR23320,Pfam_domain:PF04103																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	60093972	60093972	A	T	1	0	0	0	0	0	0	0	1	9838	407	15	4		4	MS4A2	11	60093972	Silent	SNP	A	C3N-00556_TP	4273407	60093972	74992650	285	17639											
CD6	0	.	GRCh38	chr11	60971896	60971896	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgggatcactggattgCtgacggcagccctctcaggt	6	11	12	12	2	3	1	2	1	2	0	5	3	3	3	1	4	2	2	1	4	0	2			C3N-00556_TP	C3N-00556_NB	C	C																c.31C>T	p.=	p.L11L	ENST00000313421	1/13	233	203	30	272	272	0	strelka-varscan-mutect	CD6,synonymous_variant,p.=,ENST00000313421,NM_006725.4;CD6,synonymous_variant,p.=,ENST00000352009,NM_001254750.1;CD6,synonymous_variant,p.=,ENST00000452451,NM_001254751.1;CD6,synonymous_variant,p.=,ENST00000433107,;CD6,synonymous_variant,p.=,ENST00000542157,;CD6,non_coding_transcript_exon_variant,,ENST00000545105,;CD6,non_coding_transcript_exon_variant,,ENST00000545320,;CD6,synonymous_variant,p.=,ENST00000344931,;CD6,synonymous_variant,p.=,ENST00000542254,;	T	ENST00000313421	Transcript	synonymous_variant	217/3252	31/2007	11/668	L	Ctg/Ttg	COSM4487538,COSM4487539	1		1	CD6	HGNC	HGNC:1691	protein_coding	YES	CCDS7999.1	ENSP00000323280	P30203		UPI000013F532	NM_006725.4			1/13		Cleavage_site_(Signalp):SignalP-noTM											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	55	60971896	60971896	C	T	1	0	0	0	0	0	0	0	1	2732	796	28	3		3	CD6	11	60971896	Silent	SNP	C	C3N-00556_TP	877924	60971896	74114726	286	17640											
DAGLA	0	.	GRCh38	chr11	61736296	61736296	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctctcagctgagtacatCaagaagaaactggagcagga	14	7	11	9	0	2	3	2	1	1	2	4	5	3	5	1	2	4	3	1	2	4	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1317C>T	p.=	p.I439I	ENST00000257215	13/20	209	192	17	195	194	1	strelka-varscan-mutect	DAGLA,synonymous_variant,p.=,ENST00000257215,NM_006133.2;DAGLA,3_prime_UTR_variant,,ENST00000540717,;	T	ENST00000257215	Transcript	synonymous_variant	1433/5757	1317/3129	439/1042	I	atC/atT		1		1	DAGLA	HGNC	HGNC:1165	protein_coding	YES	CCDS31578.1	ENSP00000257215	Q9Y4D2	A0A024R517	UPI00001678B3	NM_006133.2			13/20		Gene3D:3.40.50.1820,Pfam_domain:PF01764,hmmpanther:PTHR21493,hmmpanther:PTHR21493:SF102,Superfamily_domains:SSF53474																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	61736296	61736296	C	T	1	0	0	0	0	0	0	0	1	4028	816	29	3		3	DAGLA	11	61736296	Silent	SNP	C	C3N-00556_TP	764400	61736296	73350326	287	17641											
AHNAK	0	.	GRCh38	chr11	62518630	62518630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtcctctcaagtctccttCaagagagggtagctgggcat	8	11	12	10	0	3	1	2	0	2	1	6	2	4	1	2	3	1	3	2	3	3	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.15787G>C	p.Glu5263Gln	p.E5263Q	ENST00000378024	5/5	226	207	19	272	272	0	strelka-varscan-mutect	AHNAK,missense_variant,p.Glu5263Gln,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	G	ENST00000378024	Transcript	missense_variant	16062/18787	15787/17673	5263/5890	E/Q	Gaa/Caa		1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2	deleterious(0.01)		5/5		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	55	62518630	62518630	C	G	1	0	0	0	0	1	0	0	0	491	835	29	4		4	AHNAK	11	62518630	Missense_Mutation	SNP	C	C3N-00556_TP	782334	62518630	72567992	288	17642											
SLC22A12	0	.	GRCh38	chr11	64591937	64591937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctatgaccgcagcatcttCacctccacaatcgtggccaa	10	9	7	15	2	3	1	1	1	2	0	5	1	4	1	4	1	1	2	4	1	3	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.381C>A	p.Phe127Leu	p.F127L	ENST00000377574	1/10	199	162	37	185	185	0	strelka-varscan-mutect	SLC22A12,missense_variant,p.Phe127Leu,ENST00000377574,NM_144585.3;SLC22A12,missense_variant,p.Phe127Leu,ENST00000377572,NM_001276327.1;SLC22A12,missense_variant,p.Phe127Leu,ENST00000377567,;SLC22A12,missense_variant,p.Phe127Leu,ENST00000336464,NM_001276326.1;SLC22A12,5_prime_UTR_variant,,ENST00000473690,NM_153378.2;	A	ENST00000377574	Transcript	missense_variant	1128/3206	381/1662	127/553	F/L	ttC/ttA		1		1	SLC22A12	HGNC	HGNC:17989	protein_coding	YES	CCDS8075.1	ENSP00000366797	Q96S37		UPI0000040C17	NM_144585.3	deleterious(0.01)		1/10		PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF205,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	64591937	64591937	C	A	1	0	0	0	0	1	0	0	0	14709	825	29	2		2	SLC22A12	11	64591937	Missense_Mutation	SNP	C	C3N-00556_TP	2073307	64591937	70494685	289	17643											
PYGM	0	.	GRCh38	chr11	64750423	64750423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacccgcatgccaaagatGaagaagttttcctctcccgc	10	9	7	15	2	1	3	0	1	1	2	4	3	3	3	5	0	1	2	5	0	3	2			C3N-00556_TP	C3N-00556_NB	G	G																c.2130C>T	p.=	p.F710F	ENST00000164139	17/20	383	337	46	365	365	0	strelka-varscan-mutect	PYGM,synonymous_variant,p.=,ENST00000164139,NM_005609.2;PYGM,synonymous_variant,p.=,ENST00000377432,NM_001164716.1;RASGRP2,upstream_gene_variant,,ENST00000354024,NM_153819.1;PYGM,downstream_gene_variant,,ENST00000462303,;PYGM,downstream_gene_variant,,ENST00000460413,;PYGM,upstream_gene_variant,,ENST00000483742,;	A	ENST00000164139	Transcript	synonymous_variant	2529/3198	2130/2529	710/842	F	ttC/ttT	CD941765	1		-1	PYGM	HGNC	HGNC:9726	protein_coding	YES	CCDS8079.1	ENSP00000164139	P11217		UPI000013C5AC	NM_005609.2			17/20		Gene3D:3.40.50.2000,Pfam_domain:PF00343,PIRSF_domain:PIRSF000460,hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF13,Superfamily_domains:SSF53756,TIGRFAM_domain:TIGR02093																	LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	55	64750423	64750423	G	A	1	0	0	0	0	0	0	0	1	13016	1281	45	3		3	PYGM	11	64750423	Silent	SNP	G	C3N-00556_TP	158486	64750423	70336199	290	17644											
ZFPL1	0	.	GRCh38	chr11	65084749	65084749	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtgaccaacctgttctgcttCgaacatcgggtcaacgtctg	8	11	10	12	3	3	1	1	1	2	0	5	2	3	1	2	1	4	2	2	1	3	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.51C>G	p.Phe17Leu	p.F17L	ENST00000294258	2/8	240	226	14	254	254	0	strelka-varscan-mutect	ZFPL1,missense_variant,p.Phe17Leu,ENST00000294258,NM_006782.3;ZFPL1,missense_variant,p.Phe17Leu,ENST00000532200,;ZFPL1,missense_variant,p.Phe17Leu,ENST00000526334,;ZFPL1,missense_variant,p.Phe17Leu,ENST00000526945,;ZFPL1,missense_variant,p.Phe17Leu,ENST00000525509,;ZFPL1,missense_variant,p.Phe17Leu,ENST00000526791,;CDCA5,upstream_gene_variant,,ENST00000275517,NM_080668.3;CDCA5,upstream_gene_variant,,ENST00000404147,;VPS51,upstream_gene_variant,,ENST00000528588,;TMEM262,downstream_gene_variant,,ENST00000530719,NM_001282448.1;TMEM262,downstream_gene_variant,,ENST00000524603,;TMEM262,downstream_gene_variant,,ENST00000524632,NM_001242631.2;ZFPL1,upstream_gene_variant,,ENST00000530488,;ZFPL1,missense_variant,p.Phe17Leu,ENST00000453524,;ZFPL1,missense_variant,p.Phe17Leu,ENST00000531761,;ZFPL1,non_coding_transcript_exon_variant,,ENST00000533216,;ZFPL1,non_coding_transcript_exon_variant,,ENST00000526289,;ZFPL1,non_coding_transcript_exon_variant,,ENST00000526440,;TMEM262,downstream_gene_variant,,ENST00000528029,;CDCA5,upstream_gene_variant,,ENST00000479032,;CDCA5,upstream_gene_variant,,ENST00000531401,;CDCA5,upstream_gene_variant,,ENST00000524733,;CDCA5,upstream_gene_variant,,ENST00000527430,;TMEM262,downstream_gene_variant,,ENST00000334821,;ZFPL1,upstream_gene_variant,,ENST00000528123,;CDCA5,upstream_gene_variant,,ENST00000462902,;CDCA5,upstream_gene_variant,,ENST00000533015,;ZFPL1,upstream_gene_variant,,ENST00000530744,;TMEM262,downstream_gene_variant,,ENST00000525544,;	G	ENST00000294258	Transcript	missense_variant	203/1371	51/933	17/310	F/L	ttC/ttG		1		1	ZFPL1	HGNC	HGNC:12868	protein_coding	YES	CCDS8092.1	ENSP00000294258	O95159	A0A024R576	UPI000007347E	NM_006782.3	deleterious(0)		2/8		hmmpanther:PTHR12981,hmmpanther:PTHR12981:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	65084749	65084749	C	G	1	0	0	0	0	1	0	0	0	18234	883	31	4		4	ZFPL1	11	65084749	Missense_Mutation	SNP	C	C3N-00556_TP	334326	65084749	70001873	291	17645											
LTBP3	0	.	GRCh38	chr11	65547775	65547775	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagccgccggtgttcatgcaGatgcccctccccgggccaca	6	6	12	17	3	1	1	1	0	0	1	2	2	2	1	7	2	3	2	7	2	0	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1893C>G	p.Ile631Met	p.I631M	ENST00000301873	13/28	475	447	28	429	428	1	strelka-varscan-mutect	LTBP3,missense_variant,p.Ile631Met,ENST00000301873,NM_001130144.2;LTBP3,missense_variant,p.Ile631Met,ENST00000322147,NM_001164266.1,NM_021070.4;LTBP3,missense_variant,p.Ile542Met,ENST00000530866,;LTBP3,missense_variant,p.Ile61Met,ENST00000532932,;LTBP3,missense_variant,p.Ile282Met,ENST00000526927,;LTBP3,upstream_gene_variant,,ENST00000530785,;LTBP3,upstream_gene_variant,,ENST00000529189,;LTBP3,upstream_gene_variant,,ENST00000527339,;LTBP3,downstream_gene_variant,,ENST00000530426,;LTBP3,3_prime_UTR_variant,,ENST00000528516,;LTBP3,upstream_gene_variant,,ENST00000525443,;LTBP3,downstream_gene_variant,,ENST00000526825,;LTBP3,downstream_gene_variant,,ENST00000527792,;LTBP3,downstream_gene_variant,,ENST00000524798,;LTBP3,downstream_gene_variant,,ENST00000528966,;LTBP3,downstream_gene_variant,,ENST00000529764,;	C	ENST00000301873	Transcript	missense_variant	2162/4443	1893/3912	631/1303	I/M	atC/atG		1		-1	LTBP3	HGNC	HGNC:6716	protein_coding	YES	CCDS44647.1	ENSP00000301873	Q9NS15		UPI00003667EB	NM_001130144.2	tolerated(0.22)		13/28		PROSITE_profiles:PS50026,hmmpanther:PTHR24034:SF46,hmmpanther:PTHR24034,PROSITE_patterns:PS01187,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	55	65547775	65547775	G	C	1	0	0	0	0	1	0	0	0	8981	932	33	4		4	LTBP3	11	65547775	Missense_Mutation	SNP	G	C3N-00556_TP	463026	65547775	69538847	292	17646											
TSGA10IP	0	.	GRCh38	chr11	65948023	65948023	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccaaaagctgccctggaaGactttgagggctgccttcca	9	8	10	14	0	0	2	0	1	0	1	1	3	1	3	5	2	3	2	5	2	3	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1026G>C	p.Lys342Asn	p.K342N	ENST00000532620	4/8	134	125	9	120	120	0	strelka-varscan-mutect	TSGA10IP,missense_variant,p.Lys342Asn,ENST00000532620,NM_152762.2;TSGA10IP,intron_variant,,ENST00000608857,;TSGA10IP,intron_variant,,ENST00000534740,;TSGA10IP,downstream_gene_variant,,ENST00000531518,;TSGA10IP,downstream_gene_variant,,ENST00000528291,;	C	ENST00000532620	Transcript	missense_variant	1257/1925	1026/1671	342/556	K/N	aaG/aaC		1		1	TSGA10IP	HGNC	HGNC:26555	protein_coding	YES	CCDS66138.1	ENSP00000484252	Q3SY00		UPI0000EE47ED	NM_152762.2	tolerated(0.06)		4/8		hmmpanther:PTHR21501,hmmpanther:PTHR21501:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	65948023	65948023	G	C	1	0	0	0	0	1	0	0	0	17124	933	33	4		4	TSGA10IP	11	65948023	Missense_Mutation	SNP	G	C3N-00556_TP	400248	65948023	69138599	293	17647											
TSGA10IP	0	.	GRCh38	chr11	65948095	65948095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgggatacgatgaaactttCgtgtctgccaacctccctaa	10	11	8	12	3	1	1	0	1	1	0	4	3	2	2	3	1	4	0	3	1	4	3	rs769002141		C3N-00556_TP	C3N-00556_NB	C	C																c.1098C>T	p.=	p.F366F	ENST00000532620	4/8	210	195	15	182	182	0	strelka-varscan-mutect	TSGA10IP,synonymous_variant,p.=,ENST00000532620,NM_152762.2;TSGA10IP,intron_variant,,ENST00000608857,;TSGA10IP,intron_variant,,ENST00000534740,;TSGA10IP,downstream_gene_variant,,ENST00000531518,;TSGA10IP,downstream_gene_variant,,ENST00000528291,;	T	ENST00000532620	Transcript	synonymous_variant	1329/1925	1098/1671	366/556	F	ttC/ttT	rs769002141,COSM1317276	1		1	TSGA10IP	HGNC	HGNC:26555	protein_coding	YES	CCDS66138.1	ENSP00000484252	Q3SY00		UPI0000EE47ED	NM_152762.2			4/8		hmmpanther:PTHR21501,hmmpanther:PTHR21501:SF5											0,1						LOW	1	SNV	1		0,1	1										PASS		rs769002141	.												T	2	4	55	65948095	65948095	C	T	1	0	0	0	0	0	0	0	1	17124	883	31	1		1	TSGA10IP	11	65948095	Silent	SNP	C	C3N-00556_TP	72	65948095	69138527	294	17648											
PPFIA1	0	.	GRCh38	chr11	70339292	70339292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccggctggcagccctgcgaGatgagccttccaaggcaagg	8	5	15	13	2	0	2	0	1	0	1	1	3	1	2	4	4	3	3	4	4	2	1			C3N-00556_TP	C3N-00556_NB	G	G																c.1693G>A	p.Asp565Asn	p.D565N	ENST00000253925	14/28	98	91	7	112	112	0	strelka-varscan-mutect	PPFIA1,missense_variant,p.Asp565Asn,ENST00000253925,NM_003626.3;PPFIA1,missense_variant,p.Asp565Asn,ENST00000389547,NM_177423.2;PPFIA1,missense_variant,p.Asp117Asn,ENST00000530798,;PPFIA1,upstream_gene_variant,,ENST00000528750,;AP000487.6,intron_variant,,ENST00000528607,;PPFIA1,upstream_gene_variant,,ENST00000530294,;PPFIA1,upstream_gene_variant,,ENST00000526347,;PPFIA1,downstream_gene_variant,,ENST00000532443,;PPFIA1,upstream_gene_variant,,ENST00000526074,;PPFIA1,upstream_gene_variant,,ENST00000528284,;PPFIA1,downstream_gene_variant,,ENST00000530932,;PPFIA1,missense_variant,p.Asp361Asn,ENST00000526262,;PPFIA1,synonymous_variant,p.=,ENST00000532504,;PPFIA1,synonymous_variant,p.=,ENST00000526369,;	A	ENST00000253925	Transcript	missense_variant	1908/5234	1693/3609	565/1202	D/N	Gat/Aat	COSM1188338	1		1	PPFIA1	HGNC	HGNC:9245	protein_coding	YES	CCDS31627.1	ENSP00000253925	Q13136		UPI0000072426	NM_003626.3	deleterious(0.04)		14/28		hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF15											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	55	70339292	70339292	G	A	1	0	0	0	0	1	0	0	0	12418	942	33	3		3	PPFIA1	11	70339292	Missense_Mutation	SNP	G	C3N-00556_TP	4391197	70339292	64747330	295	17649											
B3GNT6	0	.	GRCh38	chr11	77039938	77039938	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagtcggcgcctgagcaCtacgagcgacgcgagctcat	9	6	14	12	6	1	2	1	2	0	0	2	5	1	2	1	1	4	2	1	1	2	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.387C>T	p.=	p.H129H	ENST00000622824	2/2	236	205	31	242	242	0	strelka-varscan-mutect	B3GNT6,synonymous_variant,p.=,ENST00000622824,NM_138706.4;B3GNT6,downstream_gene_variant,,ENST00000528622,;	T	ENST00000622824	Transcript	synonymous_variant	468/2503	387/1155	129/384	H	caC/caT		1		1	B3GNT6	HGNC	HGNC:24141	protein_coding	YES	CCDS53681.1	ENSP00000484640	Q6ZMB0	A8K9Q8	UPI000006D55A	NM_138706.4			2/2		hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF24																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	77039938	77039938	C	T	1	0	0	0	0	0	0	0	1	1417	564	20	3		3	B3GNT6	11	77039938	Silent	SNP	C	C3N-00556_TP	6700646	77039938	58046684	296	17650											
GRM5	0	.	GRCh38	chr11	88567153	88567153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcccctacatgcatgcGcaccacggtagatgtggtga	9	8	11	13	2	0	2	0	1	0	1	1	2	1	2	4	2	3	3	4	2	2	2	rs752621407		C3N-00556_TP	C3N-00556_NB	G	G																c.2530C>T	p.Arg844Cys	p.R844C	ENST00000305447	7/9	150	127	23	168	168	0	strelka-varscan-mutect	GRM5,missense_variant,p.Arg844Cys,ENST00000455756,NM_000842.4;GRM5,missense_variant,p.Arg844Cys,ENST00000305447,NM_001143831.2;GRM5,missense_variant,p.Arg844Cys,ENST00000305432,;	A	ENST00000305447	Transcript	missense_variant	2680/4571	2530/3639	844/1212	R/C	Cgc/Tgc	rs752621407,COSM2222117,COSM2222118,COSM311660,COSM311661	1		-1	GRM5	HGNC	HGNC:4597	protein_coding	YES	CCDS44694.1	ENSP00000306138	P41594		UPI000012F081	NM_001143831.2	deleterious(0)		7/9		hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs752621407	.												A	3	1	55	88567153	88567153	G	A	1	0	0	0	0	1	0	0	0	6682	1087	38	1		1	GRM5	11	88567153	Missense_Mutation	SNP	G	C3N-00556_TP	11527215	88567153	46519469	297	17651											
FAT3	0	.	GRCh38	chr11	92354553	92354553	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatccacagaaatcgtcatGgagactgctgaccatcaatg	14	9	8	10	1	2	3	2	1	0	2	4	4	3	3	2	1	1	1	2	1	3	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1991G>A	p.Trp664Ter	p.W664*	ENST00000525166	1/27	248	227	21	292	292	0	strelka-varscan-mutect	FAT3,stop_gained,p.Trp814Ter,ENST00000409404,NM_001008781.2;FAT3,stop_gained,p.Trp664Ter,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000528921,;	A	ENST00000525166	Transcript	stop_gained	2013/18699	1991/13320	664/4439	W/*	tGg/tAg		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895				1/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	55	92354553	92354553	G	A	1	0	0	0	0	0	1	0	0	5551	1357	47	3		3	FAT3	11	92354553	Nonsense_Mutation	SNP	G	C3N-00556_TP	3787400	92354553	42732069	298	17652											
FUT4	0	.	GRCh38	chr11	94544737	94544737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggagcccttcggggggcgcGatagcgccccgaggccgccc	4	3	18	16	6	0	0	0	0	0	0	1	3	0	1	5	5	2	0	5	5	1	2			C3N-00556_TP	C3N-00556_NB	G	G																c.604G>A	p.Asp202Asn	p.D202N	ENST00000358752	1/1	143	134	9	148	148	0	strelka-varscan-mutect	FUT4,missense_variant,p.Asp202Asn,ENST00000358752,NM_002033.3;RP11-867G2.8,downstream_gene_variant,,ENST00000536540,;RP11-867G2.8,downstream_gene_variant,,ENST00000537874,;PIWIL4,intron_variant,,ENST00000543336,;PIWIL4,upstream_gene_variant,,ENST00000446230,;	A	ENST00000358752	Transcript	missense_variant	898/6059	604/1593	202/530	D/N	Gat/Aat	COSM5433002	1		1	FUT4	HGNC	HGNC:4015	protein_coding	YES	CCDS8301.1	ENSP00000351602	P22083		UPI000002CC7E	NM_002033.3	tolerated(0.31)		1/1		Pfam_domain:PF17039,hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF132,Superfamily_domains:SSF53756											1						MODERATE		SNV			1	1										PASS		rs984644159	.												A	3	1	55	94544737	94544737	G	A	1	0	0	0	0	1	0	0	0	5978	1058	37	1		1	FUT4	11	94544737	Missense_Mutation	SNP	G	C3N-00556_TP	2190184	94544737	40541885	299	17653											
DYNC2H1	0	.	GRCh38	chr11	103200132	103200132	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcctacatttttggagatGatcaatagccttttgtcttc	9	17	6	9	0	2	2	1	1	1	1	4	3	3	2	2	1	2	0	2	1	3	7	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.8175G>C	p.Met2725Ile	p.M2725I	ENST00000398093	50/90	217	193	24	274	274	0	strelka-varscan-mutect	DYNC2H1,missense_variant,p.Met2725Ile,ENST00000375735,NM_001377.2;DYNC2H1,missense_variant,p.Met2725Ile,ENST00000398093,NM_001080463.1;DYNC2H1,intron_variant,,ENST00000334267,;DYNC2H1,upstream_gene_variant,,ENST00000533027,;	C	ENST00000398093	Transcript	missense_variant	8175/12945	8175/12945	2725/4314	M/I	atG/atC		1		1	DYNC2H1	HGNC	HGNC:2962	protein_coding	YES	CCDS44717.1	ENSP00000381167	Q8NCM8		UPI0000481AC7	NM_001080463.1	tolerated(0.36)		50/90		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF282,Gene3D:3.40.50.300,Pfam_domain:PF12780,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	55	103200132	103200132	G	C	1	0	0	0	0	1	0	0	0	4670	1290	45	4		4	DYNC2H1	11	103200132	Missense_Mutation	SNP	G	C3N-00556_TP	8655395	103200132	31886490	300	17654											
KMT2A	0	.	GRCh38	chr11	118503798	118503798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acatgttttttgggcttaccCcactctatggagtaagatcc	9	14	8	10	0	1	1	0	0	1	1	2	2	2	2	3	2	1	3	3	2	3	6	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.7906C>T	p.Pro2636Ser	p.P2636S	ENST00000534358	27/36	235	199	36	297	296	1	strelka-varscan-mutect	KMT2A,missense_variant,p.Pro2636Ser,ENST00000534358,NM_001197104.1;KMT2A,missense_variant,p.Pro2633Ser,ENST00000389506,NM_005933.3;KMT2A,downstream_gene_variant,,ENST00000528278,;KMT2A,upstream_gene_variant,,ENST00000534085,;	T	ENST00000534358	Transcript	missense_variant	7929/16602	7906/11919	2636/3972	P/S	Cca/Tca		1		1	KMT2A	HGNC	HGNC:7132	protein_coding	YES	CCDS55791.1	ENSP00000436786	Q03164		UPI0001E5E732	NM_001197104.1	deleterious_low_confidence(0)		27/36		PIRSF_domain:PIRSF010354																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	118503798	118503798	C	T	1	0	0	0	0	1	0	0	0	8295	623	22	3		3	KMT2A	11	118503798	Missense_Mutation	SNP	C	C3N-00556_TP	15303666	118503798	16582824	301	17655											
GRAMD1B	0	.	GRCh38	chr11	123606620	123606620	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctccagtttgatgggctGcccctggaggaagaggcgct	6	9	16	10	1	0	2	0	1	0	1	1	4	1	4	3	5	1	4	3	5	1	1	rs770078855		C3N-00556_TP	C3N-00556_NB	G	G																c.927G>A	p.=	p.L309L	ENST00000456860	11/21	83	74	9	107	107	0	strelka-varscan-mutect	GRAMD1B,synonymous_variant,p.=,ENST00000529750,NM_020716.2;GRAMD1B,synonymous_variant,p.=,ENST00000529432,NM_001286564.1;GRAMD1B,synonymous_variant,p.=,ENST00000638157,;GRAMD1B,synonymous_variant,p.=,ENST00000635736,;GRAMD1B,synonymous_variant,p.=,ENST00000456860,NM_001286563.1;GRAMD1B,synonymous_variant,p.=,ENST00000638086,;GRAMD1B,synonymous_variant,p.=,ENST00000322282,;GRAMD1B,synonymous_variant,p.=,ENST00000534764,;GRAMD1B,upstream_gene_variant,,ENST00000450171,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;	A	ENST00000456860	Transcript	synonymous_variant	1440/2805	927/2238	309/745	L	ctG/ctA	rs770078855,COSM1660096,COSM1660097	1		1	GRAMD1B	HGNC	HGNC:29214	protein_coding	YES	CCDS66253.1	ENSP00000402457	Q3KR37		UPI000023753E	NM_001286563.1			11/21		hmmpanther:PTHR23319:SF3,hmmpanther:PTHR23319											0,1,1						LOW	1	SNV	2		0,1,1	1										PASS		rs770078855	.												A	2	1	55	123606620	123606620	G	A	1	0	0	0	0	0	0	0	1	6627	1306	46	3		3	GRAMD1B	11	123606620	Silent	SNP	G	C3N-00556_TP	5102822	123606620	11480002	302	17656											
ROBO4	0	.	GRCh38	chr11	124894308	124894308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtggcgatttccagctggGtctgctcaccaactacagtc	7	10	12	12	1	2	0	1	0	1	0	4	1	3	0	2	3	4	2	2	3	2	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1211C>G	p.Thr404Ser	p.T404S	ENST00000306534	8/18	136	128	8	116	116	0	strelka-varscan-mutect	ROBO4,missense_variant,p.Thr404Ser,ENST00000306534,NM_019055.5;ROBO4,missense_variant,p.Thr259Ser,ENST00000533054,NM_001301088.1;RP11-664I21.6,downstream_gene_variant,,ENST00000524433,;ROBO4,downstream_gene_variant,,ENST00000526899,;ROBO4,downstream_gene_variant,,ENST00000527279,;ROBO4,downstream_gene_variant,,ENST00000529941,;ROBO4,non_coding_transcript_exon_variant,,ENST00000525182,;ROBO4,upstream_gene_variant,,ENST00000534407,;ROBO4,upstream_gene_variant,,ENST00000532216,;ROBO4,downstream_gene_variant,,ENST00000533337,;ROBO4,downstream_gene_variant,,ENST00000532300,;	C	ENST00000306534	Transcript	missense_variant	1697/4710	1211/3024	404/1007	T/S	aCc/aGc		1		-1	ROBO4	HGNC	HGNC:17985	protein_coding	YES	CCDS8455.1	ENSP00000304945	Q8WZ75		UPI000004A023	NM_019055.5	tolerated(0.65)		8/18		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	124894308	124894308	G	C	1	0	0	0	0	1	0	0	0	13694	1261	44	4		4	ROBO4	11	124894308	Missense_Mutation	SNP	G	C3N-00556_TP	1287688	124894308	10192314	303	17657											
WNK1	0	.	GRCh38	chr12	897528	897528	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgccagaagcatgaaattGaatctttgtataccaaactg	14	11	8	8	1	1	3	0	2	1	1	2	3	1	3	2	0	3	2	2	0	6	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.7051G>T	p.Glu2351Ter	p.E2351*	ENST00000340908	25/28	434	403	31	485	485	0	strelka-varscan-mutect	WNK1,stop_gained,p.Glu2512Ter,ENST00000530271,;WNK1,stop_gained,p.Glu2359Ter,ENST00000537687,NM_001184985.1;WNK1,stop_gained,p.Glu2351Ter,ENST00000340908,NM_213655.4;WNK1,stop_gained,p.Glu2099Ter,ENST00000315939,NM_018979.3;WNK1,stop_gained,p.Glu1851Ter,ENST00000535572,NM_014823.2;WNK1,upstream_gene_variant,,ENST00000544559,;WNK1,upstream_gene_variant,,ENST00000543065,;WNK1,non_coding_transcript_exon_variant,,ENST00000542424,;WNK1,upstream_gene_variant,,ENST00000537603,;	T	ENST00000340908	Transcript	stop_gained	7694/11208	7051/7905	2351/2634	E/*	Gaa/Taa		1		1	WNK1	HGNC	HGNC:14540	protein_coding	YES	CCDS73419.1	ENSP00000341292	Q9H4A3		UPI0001DD21C4	NM_213655.4			25/28		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF46																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	55	897528	897528	G	T	1	0	0	0	0	0	1	0	0	17933	1291	45	2		2	WNK1	12	897528	Nonsense_Mutation	SNP	G	C3N-00556_TP		897528	132377781	304	17658											
CACNA2D4	0	.	GRCh38	chr12	1885014	1885014	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatctggaaggcttctctCagggcttggtccacgacccc	7	9	12	13	1	3	0	1	0	2	0	5	3	4	2	3	5	0	2	3	5	1	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1131G>C	p.=	p.L377L	ENST00000382722	10/38	230	217	13	256	256	0	strelka-varscan-mutect	CACNA2D4,synonymous_variant,p.=,ENST00000382722,NM_172364.4;CACNA2D4,synonymous_variant,p.=,ENST00000587995,;CACNA2D4,synonymous_variant,p.=,ENST00000586184,;CACNA2D4,synonymous_variant,p.=,ENST00000588077,;CACNA2D4,synonymous_variant,p.=,ENST00000585708,;CACNA2D4,synonymous_variant,p.=,ENST00000585732,;CACNA2D4,synonymous_variant,p.=,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;CACNA2D4,upstream_gene_variant,,ENST00000590880,;	G	ENST00000382722	Transcript	synonymous_variant	1494/5475	1131/3414	377/1137	L	ctG/ctC		1		-1	CACNA2D4	HGNC	HGNC:20202	protein_coding	YES	CCDS44785.1	ENSP00000372169	Q7Z3S7		UPI0000E593D9	NM_172364.4			10/38		PROSITE_profiles:PS50234,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF26,Pfam_domain:PF13768,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	55	1885014	1885014	C	G	1	0	0	0	0	0	0	0	1	2239	813	29	4		4	CACNA2D4	12	1885014	Silent	SNP	C	C3N-00556_TP	987486	1885014	131390295	305	17659											
DCP1B	0	.	GRCh38	chr12	1953187	1953187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgGtggagagtctgcggaggctc	3	11	17	10	1	1	1	0	0	1	1	2	3	1	2	0	4	7	7	0	4	0	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.753C>G	p.His251Gln	p.H251Q	ENST00000280665	7/9	158	150	8	212	211	1	varscan-mutect	DCP1B,missense_variant,p.His251Gln,ENST00000280665,NM_152640.3;DCP1B,missense_variant,p.His125Gln,ENST00000540622,;DCP1B,non_coding_transcript_exon_variant,,ENST00000541700,;DCP1B,non_coding_transcript_exon_variant,,ENST00000536665,;DCP1B,3_prime_UTR_variant,,ENST00000543381,;	C	ENST00000280665	Transcript	missense_variant	833/2086	753/1854	251/617	H/Q	caC/caG		1		-1	DCP1B	HGNC	HGNC:24451	protein_coding	YES	CCDS31727.1	ENSP00000280665	Q8IZD4		UPI000013DC30	NM_152640.3	tolerated(0.32)		7/9																			MODERATE	1	SNV	1			1										PASS		rs1220891542	.												C	3	2	55	1953187	1953187	G	C	1	0	0	0	0	1	0	0	0	4101	1252	44	4		4	DCP1B	12	1953187	Missense_Mutation	SNP	G	C3N-00556_TP	68173	1953187	131322122	306	17660											
CACNA1C	0	.	GRCh38	chr12	2688585	2688585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgtccccaccctgcggcttGagggggtcgagtccagtgag	5	7	15	14	3	0	2	0	2	0	0	3	3	2	2	5	3	1	1	5	3	0	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.6067G>C	p.Glu2023Gln	p.E2023Q	ENST00000347598	48/49	215	199	16	170	170	0	strelka-varscan-mutect	CACNA1C,missense_variant,p.Glu1975Gln,ENST00000399655,NM_000719.6;CACNA1C,missense_variant,p.Glu2046Gln,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Glu2046Gln,ENST00000406454,;CACNA1C,missense_variant,p.Glu2010Gln,ENST00000399617,NM_001167624.2;CACNA1C,missense_variant,p.Glu1975Gln,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Glu2000Gln,ENST00000335762,;CACNA1C,missense_variant,p.Glu2023Gln,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,missense_variant,p.Glu2016Gln,ENST00000344100,NM_001129829.1;CACNA1C,missense_variant,p.Glu2010Gln,ENST00000327702,NM_001129830.2;CACNA1C,missense_variant,p.Glu2003Gln,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Glu1995Gln,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Glu1994Gln,ENST00000399621,NM_001129834.1;CACNA1C,missense_variant,p.Glu1994Gln,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Glu1994Gln,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Glu1992Gln,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Glu1983Gln,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,missense_variant,p.Glu1983Gln,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Glu1981Gln,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Glu1975Gln,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,missense_variant,p.Glu1975Gln,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Glu1975Gln,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Glu1975Gln,ENST00000399644,NM_001129841.1;CACNA1C,missense_variant,p.Glu666Gln,ENST00000616390,;CACNA1C-AS1,intron_variant,,ENST00000501371,;CACNA1C-AS1,downstream_gene_variant,,ENST00000544517,;CACNA1C-AS1,downstream_gene_variant,,ENST00000541673,;	C	ENST00000347598	Transcript	missense_variant	6067/6655	6067/6561	2023/2186	E/Q	Gag/Cag		1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3	tolerated_low_confidence(0.13)		48/49																			MODERATE	1	SNV	1			1										PASS		rs910120198	.												C	3	2	55	2688585	2688585	G	C	1	0	0	0	0	1	0	0	0	2228	1291	45	4		4	CACNA1C	12	2688585	Missense_Mutation	SNP	G	C3N-00556_TP	735398	2688585	130586724	307	17661											
DYRK4	0	.	GRCh38	chr12	4591261	4591261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcccaaggcagaggagaaGtcaccaaagaagcaaaaggt	18	3	12	8	0	1	3	1	0	0	3	2	5	2	3	2	3	1	2	2	3	6	0	rs754725794		C3N-00556_TP	C3N-00556_NB	G	G																c.81G>T	p.Lys27Asn	p.K27N	ENST00000540757	3/13	109	98	11	154	153	1	strelka-varscan-mutect	DYRK4,missense_variant,p.Lys27Asn,ENST00000540757,NM_003845.2;DYRK4,missense_variant,p.Lys142Asn,ENST00000543431,;DYRK4,missense_variant,p.Lys27Asn,ENST00000010132,;DYRK4,non_coding_transcript_exon_variant,,ENST00000536645,;DYRK4,non_coding_transcript_exon_variant,,ENST00000536157,;DYRK4,non_coding_transcript_exon_variant,,ENST00000542905,;DYRK4,downstream_gene_variant,,ENST00000539309,;DYRK4,downstream_gene_variant,,ENST00000539701,;DYRK4,downstream_gene_variant,,ENST00000537719,;DYRK4,downstream_gene_variant,,ENST00000538520,;	T	ENST00000540757	Transcript	missense_variant	241/3272	81/1563	27/520	K/N	aaG/aaT	rs754725794	1		1	DYRK4	HGNC	HGNC:3095	protein_coding	YES	CCDS8530.1	ENSP00000441755	Q9NR20		UPI000006E05C	NM_003845.2	tolerated(0.13)		3/13		hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF22																	MODERATE	1	SNV	1			1										PASS		rs754725794	.												T	3	4	55	4591261	4591261	G	T	1	0	0	0	0	1	0	0	0	4682	1020	36	2		2	DYRK4	12	4591261	Missense_Mutation	SNP	G	C3N-00556_TP	1902676	4591261	128684048	308	17662											
TAPBPL	0	.	GRCh38	chr12	6462063	6462063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttgggctgcttcaggctGaacgctgggagaccacttcc	7	9	13	12	1	1	2	1	1	0	1	2	4	2	2	2	3	2	4	2	3	1	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1321G>A	p.Glu441Lys	p.E441K	ENST00000266556	7/7	76	65	11	76	76	0	strelka-varscan-mutect	TAPBPL,missense_variant,p.Glu441Lys,ENST00000266556,NM_018009.4;VAMP1,downstream_gene_variant,,ENST00000361716,NM_199245.2;VAMP1,downstream_gene_variant,,ENST00000396308,NM_014231.4;VAMP1,downstream_gene_variant,,ENST00000400911,NM_016830.3;TAPBPL,downstream_gene_variant,,ENST00000544021,;VAMP1,downstream_gene_variant,,ENST00000535180,NM_001297438.1;RP1-102E24.10,upstream_gene_variant,,ENST00000619166,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000545700,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000539384,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000543567,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000544289,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000542160,;VAMP1,downstream_gene_variant,,ENST00000544432,;VAMP1,downstream_gene_variant,,ENST00000539047,;VAMP1,downstream_gene_variant,,ENST00000535927,;VAMP1,downstream_gene_variant,,ENST00000538970,;	A	ENST00000266556	Transcript	missense_variant	1486/1741	1321/1407	441/468	E/K	Gaa/Aaa		1		1	TAPBPL	HGNC	HGNC:30683	protein_coding	YES	CCDS8546.1	ENSP00000266556	Q9BX59		UPI000013D6F6	NM_018009.4	tolerated_low_confidence(0.08)		7/7		hmmpanther:PTHR23411,hmmpanther:PTHR23411:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	6462063	6462063	G	A	1	0	0	0	0	1	0	0	0	15952	1291	45	3		3	TAPBPL	12	6462063	Missense_Mutation	SNP	G	C3N-00556_TP	1870802	6462063	126813246	309	17663											
COPS7A	0	.	GRCh38	chr12	6730680	6730681	+	Frame_Shift_Ins	INS	-	-	A																															cctggtaggttgccaaccttINSaaaaaaaccattaaagttac																								novel		C3N-00556_TP	C3N-00556_NB	-	-																c.655dupA	p.Thr219AsnfsTer3	p.T219Nfs*3	ENST00000543155	7/8	102	65	37	145	143	2	sindel-varindel	COPS7A,frameshift_variant,p.Thr219AsnfsTer3,ENST00000543155,NM_001164094.1;COPS7A,frameshift_variant,p.Thr219AsnfsTer3,ENST00000534947,NM_001164093.1;COPS7A,frameshift_variant,p.Thr219AsnfsTer3,ENST00000539735,NM_001164095.2;COPS7A,frameshift_variant,p.Thr219AsnfsTer3,ENST00000229251,NM_016319.3;COPS7A,frameshift_variant,p.Thr219AsnfsTer3,ENST00000534877,;COPS7A,3_prime_UTR_variant,,ENST00000626119,;COPS7A,intron_variant,,ENST00000538410,;COPS7A,downstream_gene_variant,,ENST00000541866,;COPS7A,downstream_gene_variant,,ENST00000538753,;COPS7A,downstream_gene_variant,,ENST00000544725,;COPS7A,non_coding_transcript_exon_variant,,ENST00000542150,;COPS7A,3_prime_UTR_variant,,ENST00000543939,;COPS7A,3_prime_UTR_variant,,ENST00000455113,;COPS7A,3_prime_UTR_variant,,ENST00000538375,;COPS7A,3_prime_UTR_variant,,ENST00000543537,;COPS7A,non_coding_transcript_exon_variant,,ENST00000542630,;COPS7A,downstream_gene_variant,,ENST00000536872,;COPS7A,downstream_gene_variant,,ENST00000546229,;COPS7A,downstream_gene_variant,,ENST00000540408,;COPS7A,downstream_gene_variant,,ENST00000543170,;COPS7A,downstream_gene_variant,,ENST00000544316,;COPS7A,downstream_gene_variant,,ENST00000537022,;	A	ENST00000543155	Transcript	frameshift_variant	1130-1131/2127	648-649/828	216-217/275	-/X	-/A		1		1	COPS7A	HGNC	HGNC:16758	protein_coding	YES	CCDS8558.1	ENSP00000438115	Q9UBW8		UPI0000035DA4	NM_001164094.1			7/8		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15350:SF7,hmmpanther:PTHR15350																	HIGH	1	insertion	1	7		1										PASS		.	.												A	7	5	55	6730680	6730680	-	A	1	0	1	1	0	0	0	0	0	3531	1741	61	0		0	COPS7A	12	6730680	Frame_Shift_Ins	INS	-	C3N-00556_TP	268617	6730680	126544629	310	17664											
ACSM4	0	.	GRCh38	chr12	7324584	7324584	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttgtcagtagtccagatCaaatccgcggagaggtagat	11	10	12	8	2	2	3	2	0	0	3	4	4	4	3	2	2	0	3	2	2	3	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1522C>G	p.Gln508Glu	p.Q508E	ENST00000399422	11/13	225	203	22	290	290	0	strelka-varscan-mutect	ACSM4,missense_variant,p.Gln508Glu,ENST00000399422,NM_001080454.1;	G	ENST00000399422	Transcript	missense_variant	1570/2142	1522/1743	508/580	Q/E	Caa/Gaa		1		1	ACSM4	HGNC	HGNC:32016	protein_coding	YES	CCDS44825.1	ENSP00000382349	P0C7M7		UPI0000DD812A	NM_001080454.1	tolerated(0.11)		11/13		hmmpanther:PTHR24095:SF127,hmmpanther:PTHR24095,Gene3D:3.30.300.30,Pfam_domain:PF13193,Superfamily_domains:SSF56801																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	55	7324584	7324584	C	G	1	0	0	0	0	1	0	0	0	228	827	29	4		4	ACSM4	12	7324584	Missense_Mutation	SNP	C	C3N-00556_TP	593904	7324584	125950725	311	17665											
CLEC4D	0	.	GRCh38	chr12	8515253	8515253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagtggaaggaggcatgcatCcccagctgataccttcggtt	9	10	12	10	1	0	1	0	1	0	0	2	3	1	3	3	4	3	4	3	4	3	4	rs766350813		C3N-00556_TP	C3N-00556_NB	C	C																c.46C>A	p.Pro16Thr	p.P16T	ENST00000299665	2/6	150	117	33	204	204	0	strelka-varscan-mutect	CLEC4D,missense_variant,p.Pro16Thr,ENST00000299665,NM_080387.4;CLEC4D,missense_variant,p.Pro16Thr,ENST00000382064,;SUPT4H1P2,upstream_gene_variant,,ENST00000501248,;	A	ENST00000299665	Transcript	missense_variant	239/1936	46/648	16/215	P/T	Ccc/Acc	rs766350813	1		1	CLEC4D	HGNC	HGNC:14554	protein_coding	YES	CCDS8593.1	ENSP00000299665	Q8WXI8		UPI0000072EBB	NM_080387.4	tolerated(0.38)		2/6		hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF11																	MODERATE	1	SNV	1			1										PASS		rs766350813	.												A	3	1	55	8515253	8515253	C	A	1	0	0	0	0	1	0	0	0	3282	855	30	2		2	CLEC4D	12	8515253	Missense_Mutation	SNP	C	C3N-00556_TP	1190669	8515253	124760056	312	17666											
PRB2	0	.	GRCh38	chr12	11393388	11393388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcgggcactttgggacttGttgtctccttgtgggggtgg	3	14	17	7	1	1	0	0	0	1	0	3	2	1	1	1	5	0	2	1	5	0	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.690C>A	p.Asn230Lys	p.N230K	ENST00000389362	3/4	186	150	36	281	281	0	strelka-varscan-mutect	PRB2,missense_variant,p.Asn230Lys,ENST00000389362,NM_006248.3;PRB1,intron_variant,,ENST00000546254,;PRB2,downstream_gene_variant,,ENST00000565533,;PRB2,downstream_gene_variant,,ENST00000545829,;	T	ENST00000389362	Transcript	missense_variant	726/1429	690/1251	230/416	N/K	aaC/aaA		1		-1	PRB2	HGNC	HGNC:9338	protein_coding	YES	CCDS41757.2	ENSP00000374013	P02812		UPI0000EE5993	NM_006248.3	tolerated(0.95)		3/4		hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF2,SMART_domains:SM01412																	MODERATE	1	SNV	5			1										PASS		rs1380663850	.												T	3	4	55	11393388	11393388	G	T	1	0	0	0	0	1	0	0	0	12574	1368	48	2		2	PRB2	12	11393388	Missense_Mutation	SNP	G	C3N-00556_TP	2878135	11393388	121881921	313	17667											
PYROXD1	0	.	GRCh38	chr12	21462800	21462800	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatgcacacatcccttcctGatatctatgctgccggtgac	9	12	7	13	1	1	2	0	2	1	0	3	2	3	2	3	1	3	2	3	1	3	4	rs765266761		C3N-00556_TP	C3N-00556_NB	G	G																c.1054G>C	p.Asp352His	p.D352H	ENST00000240651	10/12	205	182	23	258	258	0	varscan-mutect	PYROXD1,missense_variant,p.Asp352His,ENST00000240651,NM_024854.3;PYROXD1,missense_variant,p.Asp281His,ENST00000538582,;PYROXD1,3_prime_UTR_variant,,ENST00000375266,;PYROXD1,3_prime_UTR_variant,,ENST00000544970,;PYROXD1,non_coding_transcript_exon_variant,,ENST00000536851,;PYROXD1,downstream_gene_variant,,ENST00000543476,;PYROXD1,upstream_gene_variant,,ENST00000538615,;PYROXD1,downstream_gene_variant,,ENST00000544187,;	C	ENST00000240651	Transcript	missense_variant	1108/4055	1054/1503	352/500	D/H	Gat/Cat	rs765266761	1		1	PYROXD1	HGNC	HGNC:26162	protein_coding	YES	CCDS31755.1	ENSP00000240651	Q8WU10		UPI000006CE59	NM_024854.3	deleterious(0.04)		10/12		Gene3D:3.50.50.60,Pfam_domain:PF07992,Prints_domain:PR00368,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF98,Superfamily_domains:SSF51905																	MODERATE	1	SNV	1			1										PASS		rs765266761	.												C	3	2	55	21462800	21462800	G	C	1	0	0	0	0	1	0	0	0	13021	1290	45	4		4	PYROXD1	12	21462800	Missense_Mutation	SNP	G	C3N-00556_TP	10069412	21462800	111812509	314	17668											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3N-00556_TP	C3N-00556_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	357	242	115	335	334	1	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												A	3	1	55	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	C3N-00556_TP	3782551	25245351	108029958	315	17669											
ANO6	0	.	GRCh38	chr12	45429296	45429296	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagtagataacaatttacgGccaaaatcagaataagagct	18	8	8	7	1	1	3	1	0	0	3	1	3	1	3	1	1	3	3	1	1	8	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2781G>T	p.=	p.R927R	ENST00000423947	21/21	340	282	58	366	366	0	strelka-varscan-mutect	ANO6,synonymous_variant,p.=,ENST00000320560,NM_001025356.2;ANO6,synonymous_variant,p.=,ENST00000441606,NM_001142678.1;ANO6,synonymous_variant,p.=,ENST00000423947,NM_001204803.1;ANO6,intron_variant,,ENST00000425752,NM_001142679.1;	T	ENST00000423947	Transcript	synonymous_variant	3018/5504	2781/2796	927/931	R	cgG/cgT		1		1	ANO6	HGNC	HGNC:25240	protein_coding	YES	CCDS55819.1	ENSP00000409126	Q4KMQ2		UPI000022935A	NM_001204803.1			21/21																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	45429296	45429296	G	T	1	0	0	0	0	0	0	0	1	808	1190	42	2		2	ANO6	12	45429296	Silent	SNP	G	C3N-00556_TP	20183945	45429296	87846013	316	17670											
ADCY6	0	.	GRCh38	chr12	48773618	48773618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaagacagagctggccaaGagactcagcagcatgttccc	13	5	12	11	0	1	3	1	0	0	3	2	5	2	4	2	2	3	4	2	2	2	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2472C>T	p.=	p.L824L	ENST00000307885	15/21	442	415	27	351	350	1	strelka-varscan-mutect	ADCY6,synonymous_variant,p.=,ENST00000307885,NM_015270.3;ADCY6,synonymous_variant,p.=,ENST00000550422,NM_020983.2;ADCY6,synonymous_variant,p.=,ENST00000357869,;ADCY6,downstream_gene_variant,,ENST00000548820,;MIR4701,upstream_gene_variant,,ENST00000583094,;ADCY6,non_coding_transcript_exon_variant,,ENST00000548351,;ADCY6,downstream_gene_variant,,ENST00000552090,;ADCY6,non_coding_transcript_exon_variant,,ENST00000547260,;ADCY6,non_coding_transcript_exon_variant,,ENST00000552099,;ADCY6,downstream_gene_variant,,ENST00000551435,;	A	ENST00000307885	Transcript	synonymous_variant	3167/6464	2472/3507	824/1168	L	ctC/ctT		1		-1	ADCY6	HGNC	HGNC:237	protein_coding	YES	CCDS8767.1	ENSP00000311405	O43306		UPI000003EC29	NM_015270.3			15/21		hmmpanther:PTHR11920:SF343,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	48773618	48773618	G	A	1	0	0	0	0	0	0	0	1	342	929	33	3		3	ADCY6	12	48773618	Silent	SNP	G	C3N-00556_TP	3344322	48773618	84501691	317	17671											
KCNH3	0	.	GRCh38	chr12	49555843	49555843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcagagggaggccaggcaGggcaggggctttgaaggctg	8	5	21	7	0	0	2	0	1	0	1	0	3	0	3	1	8	0	5	1	8	1	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2360G>A	p.Arg787Lys	p.R787K	ENST00000257981	12/15	106	99	7	90	90	0	strelka-varscan-mutect	KCNH3,missense_variant,p.Arg787Lys,ENST00000257981,NM_001314030.1,NM_012284.1;MCRS1,downstream_gene_variant,,ENST00000550165,;MCRS1,downstream_gene_variant,,ENST00000343810,NM_006337.4;MCRS1,downstream_gene_variant,,ENST00000546244,NM_001278341.1;MCRS1,downstream_gene_variant,,ENST00000357123,NM_001012300.1;MCRS1,downstream_gene_variant,,ENST00000553173,;MCRS1,downstream_gene_variant,,ENST00000551598,;MCRS1,downstream_gene_variant,,ENST00000547182,;MCRS1,downstream_gene_variant,,ENST00000551625,;MCRS1,downstream_gene_variant,,ENST00000548602,;MCRS1,downstream_gene_variant,,ENST00000549000,;MCRS1,downstream_gene_variant,,ENST00000552596,;KCNH3,upstream_gene_variant,,ENST00000548675,;MCRS1,downstream_gene_variant,,ENST00000548646,;	A	ENST00000257981	Transcript	missense_variant	2620/3867	2360/3252	787/1083	R/K	aGg/aAg		1		1	KCNH3	HGNC	HGNC:6252	protein_coding	YES	CCDS8786.1	ENSP00000257981	Q9ULD8		UPI000012DCA6	NM_001314030.1,NM_012284.1	tolerated(0.81)		12/15		Low_complexity_(Seg):seg,hmmpanther:PTHR10217:SF481,hmmpanther:PTHR10217																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	49555843	49555843	G	A	1	0	0	0	0	1	0	0	0	7949	1000	35	3		3	KCNH3	12	49555843	Missense_Mutation	SNP	G	C3N-00556_TP	782225	49555843	83719466	318	17672											
FAM186A	0	.	GRCh38	chr12	50354786	50354786	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcctatgttatcaattttCtgttttaggaaagccattat	10	20	5	6	0	2	0	1	0	1	0	3	1	3	1	2	1	1	2	2	1	6	8	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2046G>C	p.Gln682His	p.Q682H	ENST00000327337	4/8	124	116	8	149	149	0	strelka-varscan-mutect	FAM186A,missense_variant,p.Gln682His,ENST00000543111,;FAM186A,missense_variant,p.Gln682His,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,;	G	ENST00000327337	Transcript	missense_variant	2046/7127	2046/7056	682/2351	Q/H	caG/caC		1		-1	FAM186A	HGNC	HGNC:26980	protein_coding	YES	CCDS44878.1	ENSP00000329995	A6NE01		UPI00001D7978	NM_001145475.1	deleterious(0.02)		4/8		hmmpanther:PTHR33590,hmmpanther:PTHR33590:SF2																	MODERATE	1	SNV	5			1										PASS		rs1474247998	.												G	3	3	55	50354786	50354786	C	G	1	0	0	0	0	1	0	0	0	5361	912	32	4		4	FAM186A	12	50354786	Missense_Mutation	SNP	C	C3N-00556_TP	798943	50354786	82920523	319	17673											
KRT6B	0	.	GRCh38	chr12	52449633	52449633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtctgcatctgggacagctCctgcagaacagaaggtcata	11	8	12	10	0	3	2	1	0	2	2	4	3	4	3	1	3	4	3	1	3	3	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.913G>C	p.Glu305Gln	p.E305Q	ENST00000252252	5/9	535	506	29	503	502	1	varscan-mutect	KRT6B,missense_variant,p.Glu305Gln,ENST00000252252,NM_005555.3;	G	ENST00000252252	Transcript	missense_variant,splice_region_variant	961/2282	913/1695	305/564	E/Q	Gag/Cag		1		-1	KRT6B	HGNC	HGNC:6444	protein_coding	YES	CCDS8828.1	ENSP00000252252	P04259		UPI000013CD50	NM_005555.3	deleterious(0)		5/9		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Pfam_domain:PF00038,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		rs1187052028	.												G	3	3	55	52449633	52449633	C	G	1	0	0	0	0	1	0	0	0	8363	869	30	4		4	KRT6B	12	52449633	Missense_Mutation	SNP	C	C3N-00556_TP	2094847	52449633	80825676	320	17674											
PDE1B	0	.	GRCh38	chr12	54569600	54569600	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttactctactgcggttctCaactgtctcaaggtaatctc	9	14	6	12	1	4	0	2	0	4	0	7	0	4	0	0	2	4	2	0	2	5	4	rs769568392		C3N-00556_TP	C3N-00556_NB	C	C																c.465C>G	p.=	p.L155L	ENST00000243052	5/16	248	221	27	200	200	0	strelka-varscan-mutect	PDE1B,synonymous_variant,p.=,ENST00000243052,NM_000924.3;PDE1B,synonymous_variant,p.=,ENST00000550620,NM_001165975.2;PDE1B,synonymous_variant,p.=,ENST00000538346,NM_001288768.1,NM_001288769.1;PDE1B,non_coding_transcript_exon_variant,,ENST00000394277,;PDE1B,intron_variant,,ENST00000542335,;PDE1B,stop_gained,p.Ser176Ter,ENST00000550285,;PDE1B,non_coding_transcript_exon_variant,,ENST00000548855,;PDE1B,downstream_gene_variant,,ENST00000611899,;	G	ENST00000243052	Transcript	synonymous_variant	901/3444	465/1611	155/536	L	ctC/ctG	rs769568392	1		1	PDE1B	HGNC	HGNC:8775	protein_coding	YES	CCDS8882.1	ENSP00000243052	Q01064	A0A024RB59	UPI0000001607	NM_000924.3			5/16		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF128,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604																	LOW	1	SNV	1			1										PASS		rs769568392	.												G	2	3	55	54569600	54569600	C	G	1	0	0	0	0	0	0	0	1	11722	813	29	4		4	PDE1B	12	54569600	Silent	SNP	C	C3N-00556_TP	2119967	54569600	78705709	321	17675											
ESYT1	0	.	GRCh38	chr12	56128679	56128679	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctcactgcgaaaactctCtatatgagtcatcgagagct	12	10	8	11	2	3	2	2	1	1	1	5	4	3	2	0	0	4	2	0	0	4	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.360C>G	p.=	p.L120L	ENST00000267113	1/31	350	300	50	315	315	0	strelka-varscan-mutect	ESYT1,synonymous_variant,p.=,ENST00000394048,NM_015292.2;ESYT1,synonymous_variant,p.=,ENST00000267113,NM_001184796.1;ESYT1,5_prime_UTR_variant,,ENST00000551790,;ZC3H10,downstream_gene_variant,,ENST00000257940,NM_032786.2,NM_001303124.1,NM_001303125.1;RP11-603J24.5,non_coding_transcript_exon_variant,,ENST00000549438,;RP11-603J24.5,intron_variant,,ENST00000550947,;ESYT1,upstream_gene_variant,,ENST00000550986,;ESYT1,upstream_gene_variant,,ENST00000550179,;	G	ENST00000267113	Transcript	synonymous_variant	413/3577	360/3345	120/1114	L	ctC/ctG		1		1	ESYT1	HGNC	HGNC:29534	protein_coding	YES	CCDS53801.1	ENSP00000267113	Q9BSJ8	A0A024RB16	UPI0000D720B2	NM_001184796.1			1/31		hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF26																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	55	56128679	56128679	C	G	1	0	0	0	0	0	0	0	1	5126	900	32	4		4	ESYT1	12	56128679	Silent	SNP	C	C3N-00556_TP	1559079	56128679	77146630	322	17676											
DPY19L2	0	.	GRCh38	chr12	63644415	63644415	+	Frame_Shift_Del	DEL	C	C	-																															agtcttacctcaggtatgctCcatacatgaagaacaatccc																								novel		C3N-00556_TP	C3N-00556_NB	C	C																c.791delG	p.Gly264GlufsTer4	p.G264Efs*4	ENST00000324472	6/22	112	101	11	123	123	0	sindel-varindel-pindel	DPY19L2,frameshift_variant,p.Gly264GlufsTer4,ENST00000324472,NM_173812.4;RP11-415I12.3,intron_variant,,ENST00000509615,;DPY19L2,3_prime_UTR_variant,,ENST00000306389,;	-	ENST00000324472	Transcript	frameshift_variant	975/4060	791/2277	264/758	G/X	gGa/ga		1		-1	DPY19L2	HGNC	HGNC:19414	protein_coding	YES	CCDS31851.1	ENSP00000315988	Q6NUT2		UPI000006EC0C	NM_173812.4			6/22		Pfam_domain:PF10034,hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF6,Transmembrane_helices:TMhelix																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	55	63644415	63644415	C	-	1	0	1	0	1	0	0	0	0	4556	855	30	0		0	DPY19L2	12	63644415	Frame_Shift_Del	DEL	C	C3N-00556_TP	7515736	63644415	69630894	323	17677											
ZFC3H1	0	.	GRCh38	chr12	71629001	71629001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccaaaactttggcttcCactttcttttatctttgtag	7	20	4	10	0	3	0	0	0	3	0	5	0	4	0	2	1	1	2	2	1	4	8	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.3863G>T	p.Trp1288Leu	p.W1288L	ENST00000378743	20/35	93	75	18	113	113	0	strelka-varscan-mutect	ZFC3H1,missense_variant,p.Trp1288Leu,ENST00000378743,NM_144982.4;ZFC3H1,missense_variant,p.Trp1288Leu,ENST00000552994,;ZFC3H1,downstream_gene_variant,,ENST00000546606,;	A	ENST00000378743	Transcript	missense_variant	4222/7285	3863/5970	1288/1989	W/L	tGg/tTg		1		-1	ZFC3H1	HGNC	HGNC:28328	protein_coding	YES	CCDS41813.1	ENSP00000368017	O60293		UPI00003668E9	NM_144982.4	deleterious(0)		20/35		hmmpanther:PTHR21563,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	71629001	71629001	C	A	1	0	0	0	0	1	0	0	0	18210	595	21	2		2	ZFC3H1	12	71629001	Missense_Mutation	SNP	C	C3N-00556_TP	7984586	71629001	61646308	324	17678											
TRHDE	0	.	GRCh38	chr12	72652346	72652346	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactaaatgttagagacatCgtatactgtacaggagtgtc	13	11	9	8	1	0	1	0	0	0	1	2	3	0	2	1	1	2	3	1	1	6	5			C3N-00556_TP	C3N-00556_NB	C	C																c.2565C>T	p.=	p.I855I	ENST00000261180	16/19	99	93	6	126	125	1	strelka-varscan-mutect	TRHDE,synonymous_variant,p.=,ENST00000261180,NM_013381.2;	T	ENST00000261180	Transcript	synonymous_variant	2661/10733	2565/3075	855/1024	I	atC/atT	COSM3465131	1		1	TRHDE	HGNC	HGNC:30748	protein_coding	YES	CCDS9004.1	ENSP00000261180	Q9UKU6		UPI0000136D52	NM_013381.2			16/19		Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	55	72652346	72652346	C	T	1	0	0	0	0	0	0	0	1	16968	874	31	1		1	TRHDE	12	72652346	Silent	SNP	C	C3N-00556_TP	1023345	72652346	60622963	325	17679											
LRRIQ1	0	.	GRCh38	chr12	85040499	85040499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatttttaggattcagttGaattaccagaatcagttctt	13	16	6	6	0	3	2	2	1	1	1	3	3	3	3	1	1	1	2	1	1	5	8	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.142G>A	p.Glu48Lys	p.E48K	ENST00000393217	3/27	47	43	4	75	75	0	strelka-varscan-mutect	LRRIQ1,missense_variant,p.Glu48Lys,ENST00000393217,NM_001079910.1;LRRIQ1,missense_variant,p.Glu48Lys,ENST00000393212,;TSPAN19,upstream_gene_variant,,ENST00000532498,NM_001100917.1;TSPAN19,upstream_gene_variant,,ENST00000547836,;LRRIQ1,upstream_gene_variant,,ENST00000533414,;TSPAN19,upstream_gene_variant,,ENST00000547403,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000529408,;TSPAN19,upstream_gene_variant,,ENST00000532628,;TSPAN19,upstream_gene_variant,,ENST00000552392,;TSPAN19,upstream_gene_variant,,ENST00000433494,;	A	ENST00000393217	Transcript	missense_variant	203/5394	142/5169	48/1722	E/K	Gaa/Aaa		1		1	LRRIQ1	HGNC	HGNC:25708	protein_coding	YES	CCDS41816.1	ENSP00000376910	Q96JM4	A0A140VJN5	UPI0000ED4E82	NM_001079910.1	tolerated(0.09)		3/27																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	55	85040499	85040499	G	A	1	0	0	0	0	1	0	0	0	8935	1291	45	3		3	LRRIQ1	12	85040499	Missense_Mutation	SNP	G	C3N-00556_TP	12388153	85040499	48234810	326	17680											
RASSF9	0	.	GRCh38	chr12	85805939	85805939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacaatttccttctcttctGaatccatgtctttagttgga	8	17	5	11	0	3	1	0	1	3	0	6	2	5	2	3	1	0	1	3	1	3	6	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.71C>T	p.Ser24Leu	p.S24L	ENST00000361228	2/2	55	48	7	80	80	0	strelka-varscan-mutect	RASSF9,missense_variant,p.Ser24Leu,ENST00000361228,NM_005447.3;	A	ENST00000361228	Transcript	missense_variant	440/5682	71/1308	24/435	S/L	tCa/tTa		1		-1	RASSF9	HGNC	HGNC:15739	protein_coding	YES	CCDS44950.1	ENSP00000354884	O75901		UPI000003E7E4	NM_005447.3	tolerated(0.09)		2/2		hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF10,SMART_domains:SM00314																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	85805939	85805939	G	A	1	0	0	0	0	1	0	0	0	13254	1294	45	3		3	RASSF9	12	85805939	Missense_Mutation	SNP	G	C3N-00556_TP	765440	85805939	47469370	327	17681											
CFAP54	0	.	GRCh38	chr12	96743540	96743540	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagcatttaaaggcagAcatcatgacaaaccttcagg	18	7	8	8	0	2	3	2	1	0	2	2	3	2	3	1	2	2	2	1	2	5	3	novel		C3N-00556_TP	C3N-00556_NB	A	A																c.7358A>T	p.Asp2453Val	p.D2453V	ENST00000524981	53/68	178	138	40	187	186	1	strelka-varscan-mutect	CFAP54,missense_variant,p.Asp2453Val,ENST00000524981,NM_001306084.1;CFAP54,missense_variant,p.Asp1424Val,ENST00000637336,;CFAP54,non_coding_transcript_exon_variant,,ENST00000342887,;	T	ENST00000524981	Transcript	missense_variant	7381/9766	7358/9291	2453/3096	D/V	gAc/gTc		1		1	CFAP54	HGNC	HGNC:26456	protein_coding	YES	CCDS76588.1	ENSP00000431759	Q96N23		UPI0001F77A4D	NM_001306084.1	deleterious(0)		53/68		hmmpanther:PTHR33487,hmmpanther:PTHR33487:SF2																	MODERATE	1	SNV	5			1										PASS		rs1489574967	.												T	3	4	55	96743540	96743540	A	T	1	0	0	0	0	1	0	0	0	3025	275	10	4		4	CFAP54	12	96743540	Missense_Mutation	SNP	A	C3N-00556_TP	10937601	96743540	36531769	328	17682											
STAB2	0	.	GRCh38	chr12	103753317	103753317	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccaacgaagctgcgacCatggcaacctacaaccagct	12	6	9	14	2	0	0	0	0	0	0	0	2	0	0	4	1	8	3	4	1	5	1	rs200959680		C3N-00556_TP	C3N-00556_NB	C	C																c.6678C>A	p.=	p.T2226T	ENST00000388887	61/69	209	166	43	212	212	0	strelka-varscan-mutect	STAB2,synonymous_variant,p.=,ENST00000388887,NM_017564.9;RP11-341G23.4,intron_variant,,ENST00000551299,;STAB2,upstream_gene_variant,,ENST00000548073,;STAB2,upstream_gene_variant,,ENST00000548579,;	A	ENST00000388887	Transcript	synonymous_variant	6882/8251	6678/7656	2226/2551	T	acC/acA	rs200959680	1		1	STAB2	HGNC	HGNC:18629	protein_coding	YES	CCDS31888.1	ENSP00000373539	Q8WWQ8		UPI00001ADDF4	NM_017564.9			61/69		PROSITE_profiles:PS50963,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,PROSITE_patterns:PS01241,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436																	LOW	1	SNV	1			1										PASS		rs200959680	.												A	2	1	55	103753317	103753317	C	A	1	0	0	0	0	0	0	0	1	15616	581	21	2		2	STAB2	12	103753317	Silent	SNP	C	C3N-00556_TP	7009777	103753317	29521992	329	17683											
DAO	0	.	GRCh38	chr12	108889493	108889493	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctggaaggacacagttCtgggatttcggaagctgacc	9	10	12	10	1	1	1	0	1	1	0	3	5	2	5	2	4	1	2	2	4	2	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.334C>A	p.Leu112Met	p.L112M	ENST00000228476	4/11	328	221	107	294	294	0	strelka-varscan-mutect	DAO,missense_variant,p.Leu112Met,ENST00000228476,NM_001917.4;DAO,missense_variant,p.Leu112Met,ENST00000547166,;DAO,5_prime_UTR_variant,,ENST00000547768,;DAO,intron_variant,,ENST00000551281,;DAO,missense_variant,p.Phe73Leu,ENST00000547122,;DAO,intron_variant,,ENST00000549215,;	A	ENST00000228476	Transcript	missense_variant	538/1756	334/1044	112/347	L/M	Ctg/Atg		1		1	DAO	HGNC	HGNC:2671	protein_coding	YES	CCDS9122.1	ENSP00000228476	P14920	A0A024RBI1	UPI0000130F5F	NM_001917.4	deleterious(0)		4/11		Gene3D:3.30.9.10,Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,hmmpanther:PTHR11530,hmmpanther:PTHR11530:SF11,Superfamily_domains:SSF51971																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	108889493	108889493	C	A	1	0	0	0	0	1	0	0	0	4032	912	32	2		2	DAO	12	108889493	Missense_Mutation	SNP	C	C3N-00556_TP	5136176	108889493	24385816	330	17684											
GIT2	0	.	GRCh38	chr12	109959864	109959864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccttttgaacccgagagaGaactgccctgctgtctcctc	8	11	8	14	1	1	3	0	1	1	2	3	5	1	3	4	0	5	1	4	0	3	3			C3N-00556_TP	C3N-00556_NB	G	G																c.1082C>G	p.Ser361Cys	p.S361C	ENST00000355312	12/20	172	161	11	191	191	0	strelka-varscan-mutect	GIT2,missense_variant,p.Ser361Cys,ENST00000355312,NM_057169.3;GIT2,missense_variant,p.Ser361Cys,ENST00000361006,NM_001135214.1;GIT2,missense_variant,p.Ser363Cys,ENST00000354574,NM_014776.3;GIT2,missense_variant,p.Ser363Cys,ENST00000457474,NM_001135213.1;GIT2,missense_variant,p.Ser361Cys,ENST00000547815,NM_139201.2;GIT2,missense_variant,p.Ser361Cys,ENST00000553118,NM_057170.3;GIT2,missense_variant,p.Ser360Cys,ENST00000551209,;GIT2,missense_variant,p.Ser361Cys,ENST00000320063,;GIT2,missense_variant,p.Ser299Cys,ENST00000550186,;TCHP,intron_variant,,ENST00000550780,;GIT2,non_coding_transcript_exon_variant,,ENST00000551455,;GIT2,non_coding_transcript_exon_variant,,ENST00000547694,;GIT2,downstream_gene_variant,,ENST00000551721,;	C	ENST00000355312	Transcript	missense_variant	1082/5466	1082/2280	361/759	S/C	tCt/tGt	COSM1706261,COSM1706262	1		-1	GIT2	HGNC	HGNC:4273	protein_coding	YES	CCDS9138.1	ENSP00000347464	Q14161		UPI000012B4C5	NM_057169.3	deleterious(0.03)		12/20		hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF248											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	55	109959864	109959864	G	C	1	0	0	0	0	1	0	0	0	6279	942	33	4		4	GIT2	12	109959864	Missense_Mutation	SNP	G	C3N-00556_TP	1070371	109959864	23315445	331	17685											
NOS1	0	.	GRCh38	chr12	117234608	117234608	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagttccactttcaccatCtggttgacaggcggcgcgtc	7	10	11	13	3	2	1	1	1	1	0	4	1	3	1	2	3	1	3	2	3	0	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.3294G>C	p.Gln1098His	p.Q1098H	ENST00000618760	22/30	121	106	15	87	87	0	strelka-varscan-mutect	NOS1,missense_variant,p.Gln1098His,ENST00000618760,NM_001204218.1;NOS1,missense_variant,p.Gln1064His,ENST00000317775,NM_001204214.1,NM_000620.4,NM_001204213.1;NOS1,missense_variant,p.Gln1098His,ENST00000338101,;NOS1,missense_variant,p.Gln1063His,ENST00000344089,;	G	ENST00000618760	Transcript	missense_variant	4005/12283	3294/4407	1098/1468	Q/H	caG/caC		1		-1	NOS1	HGNC	HGNC:7872	protein_coding	YES	CCDS55890.1	ENSP00000477999	P29475		UPI00001FBC10	NM_001204218.1	tolerated(0.05)		22/30		PROSITE_profiles:PS51384,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63,Gene3D:1.20.990.10,Pfam_domain:PF00667,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF63380																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	55	117234608	117234608	C	G	1	0	0	0	0	1	0	0	0	10586	912	32	4		4	NOS1	12	117234608	Missense_Mutation	SNP	C	C3N-00556_TP	7274744	117234608	16040701	332	17686											
GCN1	0	.	GRCh38	chr12	120190337	120190337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaagttcactgaggatttCtctccgttcctttacactgg	7	14	7	13	1	2	1	1	1	1	0	5	2	4	2	3	2	1	2	3	2	2	5			C3N-00556_TP	C3N-00556_NB	C	C																c.82G>C	p.Glu28Gln	p.E28Q	ENST00000300648	2/58	192	182	10	214	214	0	strelka-varscan-mutect	GCN1,missense_variant,p.Glu28Gln,ENST00000300648,NM_006836.1;	G	ENST00000300648	Transcript	missense_variant	95/8675	82/8016	28/2671	E/Q	Gaa/Caa	COSM5478017	1		-1	GCN1	HGNC	HGNC:4199	protein_coding	YES	CCDS41847.1	ENSP00000300648	Q92616		UPI0000451CA7	NM_006836.1	tolerated(0.42)		2/58		hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7											1						MODERATE	1	SNV	1		1	1										PASS		rs1171494851	.												G	3	3	55	120190337	120190337	C	G	1	0	0	0	0	1	0	0	0	6169	922	32	4		4	GCN1	12	120190337	Missense_Mutation	SNP	C	C3N-00556_TP	2955729	120190337	13084972	333	17687											
HNF1A	0	.	GRCh38	chr12	120994336	120994336	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccccccagggccaggcccgGgacctgcgctgcccgctcac	4	3	12	22	3	1	0	1	0	0	0	1	1	1	1	7	3	2	2	7	3	0	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.886G>T	p.Gly296Ter	p.G296*	ENST00000544413	4/10	220	169	51	242	242	0	strelka-varscan-mutect	HNF1A,stop_gained,p.Gly296Ter,ENST00000257555,NM_000545.5;HNF1A,stop_gained,p.Gly296Ter,ENST00000541395,;HNF1A,stop_gained,p.Gly296Ter,ENST00000400024,;HNF1A,stop_gained,p.Gly296Ter,ENST00000544413,NM_001306179.1;HNF1A,intron_variant,,ENST00000543427,;HNF1A,intron_variant,,ENST00000617366,;HNF1A,intron_variant,,ENST00000615446,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000535955,;HNF1A,synonymous_variant,p.=,ENST00000538646,;HNF1A,3_prime_UTR_variant,,ENST00000540108,;HNF1A,non_coding_transcript_exon_variant,,ENST00000402929,;HNF1A,intron_variant,,ENST00000560968,;HNF1A,intron_variant,,ENST00000541924,;HNF1A,intron_variant,,ENST00000544574,;HNF1A,upstream_gene_variant,,ENST00000543255,;	T	ENST00000544413	Transcript	stop_gained	906/2014	886/1917	296/638	G/*	Gga/Tga		1		1	HNF1A	HGNC	HGNC:11621	protein_coding	YES	CCDS76611.1	ENSP00000438804		F5H0K0	UPI000204ABCC	NM_001306179.1			4/10		Pfam_domain:PF04812,hmmpanther:PTHR11568,hmmpanther:PTHR11568:SF4,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	55	120994336	120994336	G	T	1	0	0	0	0	0	1	0	0	7142	1233	43	2		2	HNF1A	12	120994336	Nonsense_Mutation	SNP	G	C3N-00556_TP	803999	120994336	12280973	334	17688											
RNF34	0	.	GRCh38	chr12	121430141	121430141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcccccaaacgggtggttGaacagcttctcccttggaaa	10	9	9	13	1	1	1	0	1	1	0	3	2	2	2	3	3	3	2	3	3	3	3	rs782116976		C3N-00556_TP	C3N-00556_NB	G	G																c.3773C>T	p.Ser1258Leu	p.S1258L	ENST00000377069	23/23	327	305	22	340	340	0	strelka-varscan-mutect	KDM2B,missense_variant,p.Ser1258Leu,ENST00000377069,NM_001005366.1;RNF34,missense_variant,p.Glu391Lys,ENST00000392464,;KDM2B,3_prime_UTR_variant,,ENST00000377071,NM_032590.4;KDM2B,3_prime_UTR_variant,,ENST00000611216,;KDM2B,3_prime_UTR_variant,,ENST00000542973,;KDM2B,3_prime_UTR_variant,,ENST00000536437,;KDM2B,3_prime_UTR_variant,,ENST00000543025,;KDM2B,non_coding_transcript_exon_variant,,ENST00000538503,;	A	ENST00000377069	Transcript	missense_variant	4180/5224	3773/3798	1258/1265	S/L	tCa/tTa	rs782116976	1		-1	KDM2B	HGNC	HGNC:13610	protein_coding		CCDS41849.1	ENSP00000366269	Q8NHM5		UPI000044FEA8	NM_001005366.1	deleterious_low_confidence(0)		23/23		Gene3D:3.80.10.10																	MODERATE		SNV	2			1										PASS		rs782116976	.												A	3	1	55	121430141	121430141	G	A	1	0	0	0	0	1	0	0	0	13669	1291	45	3		3	RNF34	12	121430141	Missense_Mutation	SNP	G	C3N-00556_TP	435805	121430141	11845168	335	17689											
SETD1B	0	.	GRCh38	chr12	121819593	121819593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccgaggaaagcatggcttCtgcaggccctgaggactttg	8	8	15	10	1	1	1	0	1	1	0	1	4	1	3	2	5	2	3	2	5	1	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.3479C>T	p.Ser1160Phe	p.S1160F	ENST00000542440	12/18	396	360	36	360	359	1	strelka-varscan-mutect	SETD1B,missense_variant,p.Ser1160Phe,ENST00000542440,NM_015048.1;SETD1B,missense_variant,p.Ser1203Phe,ENST00000604567,;SETD1B,missense_variant,p.Ser1203Phe,ENST00000619791,;SETD1B,missense_variant,p.Ser1160Phe,ENST00000267197,;	T	ENST00000542440	Transcript	missense_variant	3547/8185	3479/5772	1160/1923	S/F	tCt/tTt		1		1	SETD1B	HGNC	HGNC:29187	protein_coding	YES	CCDS53838.1	ENSP00000442924	Q9UPS6		UPI00006C12ED	NM_015048.1	deleterious_low_confidence(0)		12/18		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	55	121819593	121819593	C	T	1	0	0	0	0	1	0	0	0	14408	913	32	3		3	SETD1B	12	121819593	Missense_Mutation	SNP	C	C3N-00556_TP	389452	121819593	11455716	336	17690											
KNTC1	0	.	GRCh38	chr12	122586708	122586708	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatcttttgtagaaagcaaGagatatcccttggagtctac	12	14	8	7	0	2	2	0	0	2	2	3	4	3	3	1	1	2	2	1	1	6	7	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.3681G>C	p.Lys1227Asn	p.K1227N	ENST00000333479	38/64	111	96	15	91	91	0	strelka-varscan-mutect	KNTC1,missense_variant,p.Lys1227Asn,ENST00000333479,NM_014708.4;KNTC1,intron_variant,,ENST00000450485,;	C	ENST00000333479	Transcript	missense_variant	3858/6975	3681/6630	1227/2209	K/N	aaG/aaC		1		1	KNTC1	HGNC	HGNC:17255	protein_coding	YES	CCDS45002.1	ENSP00000328236	P50748		UPI0000047FD6	NM_014708.4	deleterious(0.03)		38/64		hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	122586708	122586708	G	C	1	0	0	0	0	1	0	0	0	8308	933	33	4		4	KNTC1	12	122586708	Missense_Mutation	SNP	G	C3N-00556_TP	767115	122586708	10688601	337	17691											
POLE	0	.	GRCh38	chr12	132661613	132661613	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcaaaaaagatgctgttCtctgagcgggtgacgtaggt	11	10	12	8	2	2	3	1	2	1	1	3	3	2	3	1	2	2	3	1	2	4	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2778G>A	p.=	p.E926E	ENST00000320574	24/49	228	205	23	193	193	0	strelka-varscan-mutect	POLE,synonymous_variant,p.=,ENST00000320574,NM_006231.3;POLE,synonymous_variant,p.=,ENST00000535270,;POLE,3_prime_UTR_variant,,ENST00000537064,;POLE,upstream_gene_variant,,ENST00000536445,;	T	ENST00000320574	Transcript	synonymous_variant	2822/7840	2778/6861	926/2286	E	gaG/gaA		1		-1	POLE	HGNC	HGNC:9177	protein_coding	YES	CCDS9278.1	ENSP00000322570	Q07864		UPI00001FBF97	NM_006231.3			24/49		Pfam_domain:PF00136,hmmpanther:PTHR10670,Superfamily_domains:SSF56672																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	132661613	132661613	C	T	1	0	0	0	0	0	0	0	1	12306	912	32	3		3	POLE	12	132661613	Silent	SNP	C	C3N-00556_TP	10074905	132661613	613696	338	17692											
SACS	0	.	GRCh38	chr13	23332113	23332113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgcatcgtcaaacactaaGatgcttgactttaccaatct	12	11	7	11	2	2	2	1	1	1	1	3	2	2	2	1	1	3	2	1	1	4	4	rs749093421		C3N-00556_TP	C3N-00556_NB	G	G																c.11763C>G	p.Ile3921Met	p.I3921M	ENST00000382292	9/9	348	327	21	488	488	0	strelka-varscan-mutect	SACS,missense_variant,p.Ile3921Met,ENST00000382292,NM_014363.5;SACS,missense_variant,p.Ile3171Met,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	C	ENST00000382292	Transcript	missense_variant	12037/15324	11763/13740	3921/4579	I/M	atC/atG	rs749093421	1		-1	SACS	HGNC	HGNC:10519	protein_coding	YES	CCDS9300.2	ENSP00000371729	Q9NZJ4		UPI000047039D	NM_014363.5	tolerated(0.09)		9/9		hmmpanther:PTHR15600,hmmpanther:PTHR15600:SF28																	MODERATE	1	SNV	5			1										PASS		rs749093421	.												C	3	2	55	23332113	23332113	G	C	1	0	0	0	0	1	0	0	0	14063	932	33	4		4	SACS	13	23332113	Missense_Mutation	SNP	G	C3N-00556_TP		23332113	91032215	339	17693											
AMER2	0	.	GRCh38	chr13	25170034	25170034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcctctgggcctggcGtggtggagtcccagtagccc	3	11	14	13	1	2	0	0	0	2	0	4	1	4	1	4	4	1	1	4	4	1	2	rs771130477		C3N-00556_TP	C3N-00556_NB	G	G																c.1586C>G	p.Thr529Arg	p.T529R	ENST00000515384	1/1	84	79	5	134	134	0	strelka-varscan-mutect	AMER2,missense_variant,p.Thr410Arg,ENST00000357816,NM_199138.2;AMER2,missense_variant,p.Thr529Arg,ENST00000515384,NM_152704.3;LINC00463,downstream_gene_variant,,ENST00000413501,;	C	ENST00000515384	Transcript	missense_variant	2254/3197	1586/2016	529/671	T/R	aCg/aGg	rs771130477	1		-1	AMER2	HGNC	HGNC:26360	protein_coding	YES	CCDS53859.1	ENSP00000426528	Q8N7J2		UPI0000231C76	NM_152704.3	deleterious(0)		1/1		hmmpanther:PTHR22237:SF1,hmmpanther:PTHR22237,Pfam_domain:PF09422																	MODERATE		SNV				1										PASS		rs771130477	.												C	3	2	55	25170034	25170034	G	C	1	0	0	0	0	1	0	0	0	668	1145	40	4		4	AMER2	13	25170034	Missense_Mutation	SNP	G	C3N-00556_TP	1837921	25170034	89194294	340	17694											
TEX26	0	.	GRCh38	chr13	30952720	30952720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatcctattctcaatcaGacacaatatagtgatgagta	15	12	7	7	0	2	4	2	3	1	1	4	4	3	4	1	0	0	1	1	0	6	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.207G>T	p.Gln69His	p.Q69H	ENST00000380473	3/7	148	122	26	210	210	0	strelka-varscan-mutect	TEX26,missense_variant,p.Gln69His,ENST00000380473,NM_152325.1;TEX26,upstream_gene_variant,,ENST00000530916,;TEX26,intron_variant,,ENST00000531960,;	T	ENST00000380473	Transcript	missense_variant	220/1478	207/870	69/289	Q/H	caG/caT		1		1	TEX26	HGNC	HGNC:28622	protein_coding	YES	CCDS9339.1	ENSP00000369840	Q8N6G2		UPI0000070D41	NM_152325.1	deleterious(0.01)		3/7		hmmpanther:PTHR33769:SF1,hmmpanther:PTHR33769																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	30952720	30952720	G	T	1	0	0	0	0	1	0	0	0	16205	933	33	2		2	TEX26	13	30952720	Missense_Mutation	SNP	G	C3N-00556_TP	5782686	30952720	83411608	341	17695											
B3GLCT	0	.	GRCh38	chr13	31260945	31260945	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttatatctttatttaacaGgaatggtttttgggaaaagc	12	17	9	3	0	1	0	0	0	1	0	1	2	1	2	0	3	2	2	0	3	7	8	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.460-1G>T		p.X154_splice	ENST00000343307		153	129	24	214	214	0	strelka-varscan-mutect	B3GLCT,splice_acceptor_variant,,ENST00000343307,NM_194318.3;B3GLCT,splice_acceptor_variant,,ENST00000461652,;	T	ENST00000343307	Transcript	splice_acceptor_variant	-/4254	460/1497	154/498				1		1	B3GLCT	HGNC	HGNC:20207	protein_coding	YES	CCDS9341.1	ENSP00000343002	Q6Y288		UPI000036695C	NM_194318.3				6/14																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	55	31260945	31260945	G	T	1	0	0	0	0	0	0	1	0	1412	1014	35	2		2	B3GLCT	13	31260945	Splice_Site	SNP	G	C3N-00556_TP	308225	31260945	83103383	342	17696											
FRY	0	.	GRCh38	chr13	32171022	32171022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtttcacaggctctctattCatatggatgatgaattgcga	10	14	9	8	2	3	2	2	2	1	0	4	4	3	3	0	2	1	2	0	2	3	5	rs777478179		C3N-00556_TP	C3N-00556_NB	C	C																c.1903C>T	p.His635Tyr	p.H635Y	ENST00000542859	18/61	176	161	15	224	224	0	strelka-varscan-mutect	FRY,missense_variant,p.His635Tyr,ENST00000542859,NM_023037.2;FRY,missense_variant,p.His635Tyr,ENST00000380250,;	T	ENST00000542859	Transcript	missense_variant	2399/13200	1903/9042	635/3013	H/Y	Cat/Tat	rs777478179	1		1	FRY	HGNC	HGNC:20367	protein_coding	YES	CCDS41875.1	ENSP00000445043	Q5TBA9		UPI000046FD40	NM_023037.2	deleterious(0)		18/61		Pfam_domain:PF14222,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29																	MODERATE	1	SNV	5			1										PASS		rs777478179	.												T	3	4	55	32171022	32171022	C	T	1	0	0	0	0	1	0	0	0	5935	826	29	3		3	FRY	13	32171022	Missense_Mutation	SNP	C	C3N-00556_TP	910077	32171022	82193306	343	17697											
FRY	0	.	GRCh38	chr13	32237826	32237826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaaccgagaaaagcttgaGaaactccaggcacagctgaa	17	4	11	9	1	0	4	0	2	0	3	1	7	1	4	2	1	4	3	2	1	5	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.6258G>A	p.=	p.E2086E	ENST00000542859	44/61	194	182	12	231	230	1	strelka-varscan-mutect	FRY,synonymous_variant,p.=,ENST00000542859,NM_023037.2;FRY,synonymous_variant,p.=,ENST00000380250,;	A	ENST00000542859	Transcript	synonymous_variant	6754/13200	6258/9042	2086/3013	E	gaG/gaA		1		1	FRY	HGNC	HGNC:20367	protein_coding	YES	CCDS41875.1	ENSP00000445043	Q5TBA9		UPI000046FD40	NM_023037.2			44/61		Pfam_domain:PF14225,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29																	LOW	1	SNV	5			1										PASS		rs762897259	.												A	2	1	55	32237826	32237826	G	A	1	0	0	0	0	0	0	0	1	5935	933	33	3		3	FRY	13	32237826	Silent	SNP	G	C3N-00556_TP	66804	32237826	82126502	344	17698											
TRPC4	0	.	GRCh38	chr13	37674336	37674336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagtcctgaagtccgccatcCcacatctgtttaatttctcc	8	14	5	14	1	2	1	0	1	2	0	6	1	5	1	5	0	0	1	5	0	3	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1266G>C	p.Trp422Cys	p.W422C	ENST00000625583	4/10	202	176	26	254	254	0	strelka-varscan-mutect	TRPC4,missense_variant,p.Trp422Cys,ENST00000379705,NM_016179.2;TRPC4,missense_variant,p.Trp422Cys,ENST00000625583,NM_003306.1;TRPC4,missense_variant,p.Trp422Cys,ENST00000358477,NM_001135955.1;TRPC4,missense_variant,p.Trp249Cys,ENST00000338947,NM_001135958.1;TRPC4,missense_variant,p.Trp422Cys,ENST00000355779,NM_001135957.1;TRPC4,missense_variant,p.Trp422Cys,ENST00000379673,NM_001135956.1;TRPC4,missense_variant,p.Trp422Cys,ENST00000426868,;TRPC4,missense_variant,p.Trp249Cys,ENST00000379679,;TRPC4,non_coding_transcript_exon_variant,,ENST00000494529,;TRPC4,missense_variant,p.Gly310Ala,ENST00000488717,;	G	ENST00000625583	Transcript	missense_variant	1266/3009	1266/2949	422/982	W/C	tgG/tgC		1		-1	TRPC4	HGNC	HGNC:12336	protein_coding	YES	CCDS45037.1	ENSP00000486109	Q9UBN4		UPI000006E5BE	NM_003306.1	deleterious(0)		4/10		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF25,Pfam_domain:PF00520,TIGRFAM_domain:TIGR00870																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	37674336	37674336	C	G	1	0	0	0	0	1	0	0	0	17085	624	22	4		4	TRPC4	13	37674336	Missense_Mutation	SNP	C	C3N-00556_TP	5436510	37674336	76689992	345	17699											
NUFIP1	0	.	GRCh38	chr13	44959408	44959408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtttatcaaaacaccaaGaggatctgcatttgcctccg	12	11	7	11	1	2	1	1	0	1	1	3	2	3	2	3	1	3	2	3	1	4	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.994C>T	p.Leu332Phe	p.L332F	ENST00000379161	7/10	240	223	17	295	293	2	strelka-varscan-mutect	NUFIP1,missense_variant,p.Leu332Phe,ENST00000379161,NM_012345.2;	A	ENST00000379161	Transcript	missense_variant	1041/3492	994/1488	332/495	L/F	Ctt/Ttt		1		-1	NUFIP1	HGNC	HGNC:8057	protein_coding	YES	CCDS9393.1	ENSP00000368459	Q9UHK0		UPI000013C768	NM_012345.2	deleterious(0)		7/10		hmmpanther:PTHR13309																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	44959408	44959408	G	A	1	0	0	0	0	1	0	0	0	10812	942	33	3		3	NUFIP1	13	44959408	Missense_Mutation	SNP	G	C3N-00556_TP	7285072	44959408	69404920	346	17700											
ZC3H13	0	.	GRCh38	chr13	45975472	45975472	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctctcccgttctcgctctCtctccctctctctctcttct	0	18	2	21	2	8	0	0	0	8	0	15	0	9	0	2	0	0	2	2	0	0	2	rs868471939		C3N-00556_TP	C3N-00556_NB	C	C																c.2279G>C	p.Arg760Thr	p.R760T	ENST00000282007	12/17	194	173	21	252	252	0	strelka-varscan-mutect	ZC3H13,missense_variant,p.Arg760Thr,ENST00000242848,;ZC3H13,missense_variant,p.Arg760Thr,ENST00000282007,NM_015070.4;	G	ENST00000282007	Transcript	missense_variant	2350/6412	2279/4695	760/1564	R/T	aGa/aCa	rs868471939	1		-1	ZC3H13	HGNC	HGNC:20368	protein_coding	YES	CCDS9400.1	ENSP00000282007	Q5T200		UPI0000366969	NM_015070.4	deleterious_low_confidence(0.03)		12/17		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13585,hmmpanther:PTHR13585:SF5																	MODERATE	1	SNV	1			1										PASS		rs868471939	.												G	3	3	55	45975472	45975472	C	G	1	0	0	0	0	1	0	0	0	18140	913	32	4		4	ZC3H13	13	45975472	Missense_Mutation	SNP	C	C3N-00556_TP	1016064	45975472	68388856	347	17701											
ZC3H13	0	.	GRCh38	chr13	45975533	45975533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccctgtctcgttccctctCtctttcccgctctcgatcgt	1	17	5	18	4	4	0	0	0	4	0	11	1	7	0	3	0	0	2	3	0	0	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2218G>C	p.Glu740Gln	p.E740Q	ENST00000282007	12/17	173	155	18	285	285	0	strelka-varscan-mutect	ZC3H13,missense_variant,p.Glu740Gln,ENST00000242848,;ZC3H13,missense_variant,p.Glu740Gln,ENST00000282007,NM_015070.4;	G	ENST00000282007	Transcript	missense_variant	2289/6412	2218/4695	740/1564	E/Q	Gag/Cag		1		-1	ZC3H13	HGNC	HGNC:20368	protein_coding	YES	CCDS9400.1	ENSP00000282007	Q5T200		UPI0000366969	NM_015070.4	tolerated_low_confidence(0.14)		12/17		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13585,hmmpanther:PTHR13585:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	45975533	45975533	C	G	1	0	0	0	0	1	0	0	0	18140	922	32	4		4	ZC3H13	13	45975533	Missense_Mutation	SNP	C	C3N-00556_TP	61	45975533	68388795	348	17702											
MYCBP2	0	.	GRCh38	chr13	77097809	77097809	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacaataccttgtttttgttGatgctacccatcttagatat	10	17	6	8	0	1	2	0	1	1	1	1	3	1	2	2	0	3	3	2	0	5	8	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.9231C>G	p.Ile3077Met	p.I3077M	ENST00000544440	56/83	148	132	16	253	253	0	strelka-varscan-mutect	MYCBP2,missense_variant,p.Ile3077Met,ENST00000357337,NM_015057.4;MYCBP2,missense_variant,p.Ile3077Met,ENST00000544440,;RP11-226E21.4,intron_variant,,ENST00000638101,;MYCBP2-AS1,intron_variant,,ENST00000593933,;MYCBP2-AS1,intron_variant,,ENST00000629771,;MYCBP2-AS1,intron_variant,,ENST00000627409,;MYCBP2,downstream_gene_variant,,ENST00000482517,;MYCBP2,downstream_gene_variant,,ENST00000498073,;MYCBP2,upstream_gene_variant,,ENST00000485061,;MYCBP2,downstream_gene_variant,,ENST00000462987,;RP11-226E21.4,intron_variant,,ENST00000637192,;	C	ENST00000544440	Transcript	missense_variant	9249/14664	9231/13923	3077/4640	I/M	atC/atG		1		-1	MYCBP2	HGNC	HGNC:23386	protein_coding	YES		ENSP00000444596	O75592		UPI0000212757		deleterious(0.05)		56/83																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	77097809	77097809	G	C	1	0	0	0	0	1	0	0	0	10018	1280	45	4		4	MYCBP2	13	77097809	Missense_Mutation	SNP	G	C3N-00556_TP	31122276	77097809	37266519	349	17703											
OR4K14	0	.	GRCh38	chr14	20014668	20014668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtcacagaagaagctgtCtacctcattggggccacagt	11	8	12	10	0	3	2	2	0	1	2	3	3	3	2	2	3	2	1	2	3	3	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.526G>A	p.Asp176Asn	p.D176N	ENST00000305045	1/1	199	159	40	269	269	0	strelka-varscan-mutect	OR4K14,missense_variant,p.Asp176Asn,ENST00000305045,NM_001004712.1;	T	ENST00000305045	Transcript	missense_variant	526/934	526/933	176/310	D/N	Gac/Aac		1		-1	OR4K14	HGNC	HGNC:15352	protein_coding	YES	CCDS32027.1	ENSP00000305011	Q8NGD5	A0A126GVP2	UPI0000041CED	NM_001004712.1	deleterious(0.05)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF31,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	55	20014668	20014668	C	T	1	0	0	0	0	1	0	0	0	11146	913	32	3		3	OR4K14	14	20014668	Missense_Mutation	SNP	C	C3N-00556_TP		20014668	87029050	350	17704											
PNP	0	.	GRCh38	chr14	20475173	20475173	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgagctacaggaaggcacCtatgtgatggtggcaggccc	9	7	15	10	1	0	2	0	2	0	0	0	3	0	3	2	5	2	3	2	5	3	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.573C>G	p.=	p.T191T	ENST00000361505	5/6	158	133	25	206	206	0	strelka-varscan-mutect	PNP,synonymous_variant,p.=,ENST00000361505,NM_000270.3;PNP,downstream_gene_variant,,ENST00000553591,;PNP,downstream_gene_variant,,ENST00000553418,;PNP,downstream_gene_variant,,ENST00000554065,;RP11-203M5.8,intron_variant,,ENST00000554678,;PNP,non_coding_transcript_exon_variant,,ENST00000556754,;PNP,non_coding_transcript_exon_variant,,ENST00000554056,;PNP,downstream_gene_variant,,ENST00000556293,;PNP,downstream_gene_variant,,ENST00000557229,;	G	ENST00000361505	Transcript	synonymous_variant	719/1509	573/870	191/289	T	acC/acG		1		1	PNP	HGNC	HGNC:7892	protein_coding	YES	CCDS9552.1	ENSP00000354532	P00491	V9HWH6	UPI00001FCF7D	NM_000270.3			5/6		hmmpanther:PTHR11904,hmmpanther:PTHR11904:SF12,TIGRFAM_domain:TIGR01700,PIRSF_domain:PIRSF000477,Pfam_domain:PF01048,TIGRFAM_domain:TIGR01697,Gene3D:3.40.50.1580,Superfamily_domains:SSF53167																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	55	20475173	20475173	C	G	1	0	0	0	0	0	0	0	1	12271	668	24	4		4	PNP	14	20475173	Silent	SNP	C	C3N-00556_TP	460505	20475173	86568545	351	17705											
OR5AU1	0	.	GRCh38	chr14	21155233	21155233	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaagtaggagatcaagaTggtgagggtgcagctcaaaa	16	7	14	4	0	2	4	2	1	0	3	2	5	2	4	0	3	2	3	0	3	6	2	rs763489918		C3N-00556_TP	C3N-00556_NB	T	T																c.793A>T	p.Ile265Phe	p.I265F	ENST00000304418	1/1	238	206	32	336	334	2	strelka-varscan-mutect	OR5AU1,missense_variant,p.Ile265Phe,ENST00000304418,NM_001004731.1;	A	ENST00000304418	Transcript	missense_variant	831/1199	793/1089	265/362	I/F	Atc/Ttc	rs763489918	1		-1	OR5AU1	HGNC	HGNC:15362	protein_coding	YES	CCDS32042.1	ENSP00000302057	Q8NGC0	A0A126GVW7	UPI000015F240	NM_001004731.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF186,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs763489918	.												A	3	1	55	21155233	21155233	T	A	1	0	0	0	0	1	0	0	0	11218	1464	51	4		4	OR5AU1	14	21155233	Missense_Mutation	SNP	T	C3N-00556_TP	680060	21155233	85888485	352	17706											
PRMT5	0	.	GRCh38	chr14	22920923	22920923	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctagaggccaatggtatatGagcggcctgtggggttatga	9	10	16	6	1	0	3	0	2	0	1	0	3	0	3	2	5	1	3	2	5	5	4			C3N-00556_TP	C3N-00556_NB	G	G																c.1895C>G	p.Ser632Ter	p.S632*	ENST00000324366	17/17	167	146	21	160	160	0	strelka-varscan-mutect	PRMT5,stop_gained,p.Ser632Ter,ENST00000324366,NM_006109.4;PRMT5,stop_gained,p.Ser615Ter,ENST00000397441,NM_001039619.2;PRMT5,stop_gained,p.Ser571Ter,ENST00000216350,NM_001282954.1,NM_001282953.1;PRMT5,stop_gained,p.Ser461Ter,ENST00000397440,NM_001282956.1;PRMT5,stop_gained,p.Ser588Ter,ENST00000553897,NM_001282955.1;PRMT5,stop_gained,p.Ser174Ter,ENST00000454731,;PRMT5,3_prime_UTR_variant,,ENST00000555454,;PRMT5,intron_variant,,ENST00000557443,;RBM23,upstream_gene_variant,,ENST00000359890,NM_001077351.1;RBM23,upstream_gene_variant,,ENST00000399922,NM_018107.4;RBM23,upstream_gene_variant,,ENST00000346528,NM_001077352.1;RBM23,upstream_gene_variant,,ENST00000555209,;RBM23,upstream_gene_variant,,ENST00000542016,NM_001308044.1;PRMT5,downstream_gene_variant,,ENST00000555530,;RBM23,upstream_gene_variant,,ENST00000557403,;PRMT5,downstream_gene_variant,,ENST00000556043,;RBM23,upstream_gene_variant,,ENST00000555722,;RBM23,upstream_gene_variant,,ENST00000554618,;RBM23,upstream_gene_variant,,ENST00000555676,;RBM23,upstream_gene_variant,,ENST00000557549,;RBM23,upstream_gene_variant,,ENST00000554256,;PRMT5,downstream_gene_variant,,ENST00000553550,;RBM23,upstream_gene_variant,,ENST00000557571,;RBM23,upstream_gene_variant,,ENST00000556862,;RBM23,upstream_gene_variant,,ENST00000557227,;RBM23,upstream_gene_variant,,ENST00000557464,;PRMT5,downstream_gene_variant,,ENST00000553502,;RBM23,upstream_gene_variant,,ENST00000553876,;PRMT5-AS1,non_coding_transcript_exon_variant,,ENST00000424245,;PRMT5-AS1,non_coding_transcript_exon_variant,,ENST00000599580,;PRMT5-AS1,non_coding_transcript_exon_variant,,ENST00000457443,;PRMT5-AS1,intron_variant,,ENST00000609885,;PRMT5-AS1,upstream_gene_variant,,ENST00000587245,;PRMT5-AS1,upstream_gene_variant,,ENST00000590290,;PRMT5-AS1,upstream_gene_variant,,ENST00000595662,;PRMT5,non_coding_transcript_exon_variant,,ENST00000476175,;RBM23,upstream_gene_variant,,ENST00000556984,;PRMT5,downstream_gene_variant,,ENST00000554716,;RBM23,upstream_gene_variant,,ENST00000555714,;RBM23,upstream_gene_variant,,ENST00000553920,;RBM23,upstream_gene_variant,,ENST00000556365,;RBM23,upstream_gene_variant,,ENST00000553777,;PRMT5,3_prime_UTR_variant,,ENST00000553915,;RBM23,upstream_gene_variant,,ENST00000557667,;RBM23,upstream_gene_variant,,ENST00000307814,;RBM23,upstream_gene_variant,,ENST00000556687,;RBM23,upstream_gene_variant,,ENST00000554955,;PRMT5,downstream_gene_variant,,ENST00000557758,;RBM23,upstream_gene_variant,,ENST00000553902,;PRMT5,downstream_gene_variant,,ENST00000553787,;	C	ENST00000324366	Transcript	stop_gained	2119/2531	1895/1914	632/637	S/*	tCa/tGa	COSM1195458,COSM1195459	1		-1	PRMT5	HGNC	HGNC:10894	protein_coding	YES	CCDS9579.1	ENSP00000319169	O14744		UPI000006F09F	NM_006109.4			17/17		hmmpanther:PTHR10738,PIRSF_domain:PIRSF015894,Superfamily_domains:SSF53335											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												C	4	2	55	22920923	22920923	G	C	1	0	0	0	0	0	1	0	0	12670	1294	45	4		4	PRMT5	14	22920923	Nonsense_Mutation	SNP	G	C3N-00556_TP	1765690	22920923	84122795	353	17707											
ZFHX2	0	.	GRCh38	chr14	23522708	23522708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaggttcttgagggcatCattggaggagctggtggggc	6	12	18	5	0	2	2	1	2	1	0	2	4	2	4	0	7	1	3	0	7	0	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.6973G>T	p.Asp2325Tyr	p.D2325Y	ENST00000419474	10/10	206	189	17	170	170	0	strelka-varscan-mutect	ZFHX2,missense_variant,p.Asp2325Tyr,ENST00000419474,NM_033400.2;RP11-66N24.4,intron_variant,,ENST00000553985,;RP11-66N24.4,intron_variant,,ENST00000556354,;ZFHX2,upstream_gene_variant,,ENST00000606808,;RP11-66N24.4,intron_variant,,ENST00000554403,;	A	ENST00000419474	Transcript	missense_variant	7329/9182	6973/7719	2325/2572	D/Y	Gat/Tat		1		-1	ZFHX2	HGNC	HGNC:20152	protein_coding	YES	CCDS55907.1	ENSP00000413418	Q9C0A1		UPI000198D01B	NM_033400.2	tolerated(0.09)		10/10		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF119																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	55	23522708	23522708	C	A	1	0	0	0	0	1	0	0	0	18211	826	29	2		2	ZFHX2	14	23522708	Missense_Mutation	SNP	C	C3N-00556_TP	601785	23522708	83521010	354	17708											
ZFHX2	0	.	GRCh38	chr14	23527621	23527621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactacaagcagcagcttctCaacgcactcgggcaccacgt	11	6	8	16	3	1	0	1	0	1	0	3	0	1	0	1	1	5	5	1	1	3	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.3118G>A	p.Glu1040Lys	p.E1040K	ENST00000419474	7/10	220	195	25	199	199	0	strelka-varscan-mutect	ZFHX2,missense_variant,p.Glu1040Lys,ENST00000419474,NM_033400.2;ZFHX2,downstream_gene_variant,,ENST00000615307,;RP11-66N24.4,intron_variant,,ENST00000553985,;RP11-66N24.4,intron_variant,,ENST00000556354,;RP11-66N24.7,upstream_gene_variant,,ENST00000622438,;RP11-66N24.4,intron_variant,,ENST00000554403,;	T	ENST00000419474	Transcript	missense_variant	3474/9182	3118/7719	1040/2572	E/K	Gag/Aag		1		-1	ZFHX2	HGNC	HGNC:20152	protein_coding	YES	CCDS55907.1	ENSP00000413418	Q9C0A1		UPI000198D01B	NM_033400.2	deleterious(0.03)		7/10		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF119																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	55	23527621	23527621	C	T	1	0	0	0	0	1	0	0	0	18211	835	29	3		3	ZFHX2	14	23527621	Missense_Mutation	SNP	C	C3N-00556_TP	4913	23527621	83516097	355	17709											
IPO4	0	.	GRCh38	chr14	24181818	24181818	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgccaggaggggaaaaaGgagccccagcagcttgggga	11	2	17	11	2	0	0	0	0	0	0	0	4	0	4	4	6	3	2	4	6	2	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2833C>G	p.Leu945Val	p.L945V	ENST00000354464	27/30	50	46	4	78	78	0	varscan-mutect	IPO4,missense_variant,p.Leu945Val,ENST00000354464,NM_024658.3;IPO4,missense_variant,p.Leu409Val,ENST00000561462,;IPO4,missense_variant,p.Leu211Val,ENST00000558233,;REC8,downstream_gene_variant,,ENST00000620473,;REC8,downstream_gene_variant,,ENST00000611366,NM_005132.2,NM_001048205.1;REC8,downstream_gene_variant,,ENST00000560501,;REC8,downstream_gene_variant,,ENST00000559939,;RP11-468E2.2,3_prime_UTR_variant,,ENST00000561419,;IPO4,3_prime_UTR_variant,,ENST00000558780,;IPO4,3_prime_UTR_variant,,ENST00000560155,;IPO4,3_prime_UTR_variant,,ENST00000558046,;IPO4,non_coding_transcript_exon_variant,,ENST00000561090,;IPO4,non_coding_transcript_exon_variant,,ENST00000560798,;IPO4,non_coding_transcript_exon_variant,,ENST00000559588,;IPO4,non_coding_transcript_exon_variant,,ENST00000561199,;REC8,downstream_gene_variant,,ENST00000619469,;REC8,downstream_gene_variant,,ENST00000619284,;REC8,downstream_gene_variant,,ENST00000619111,;REC8,downstream_gene_variant,,ENST00000559797,;IPO4,downstream_gene_variant,,ENST00000560935,;IPO4,downstream_gene_variant,,ENST00000561379,;REC8,downstream_gene_variant,,ENST00000558191,;REC8,downstream_gene_variant,,ENST00000560823,;REC8,downstream_gene_variant,,ENST00000558381,;	C	ENST00000354464	Transcript	missense_variant	3010/3646	2833/3246	945/1081	L/V	Ctt/Gtt		1		-1	IPO4	HGNC	HGNC:19426	protein_coding	YES	CCDS9616.1	ENSP00000346453	Q8TEX9		UPI000013CCB3	NM_024658.3	deleterious(0.01)		27/30		Gene3D:1.25.10.10,hmmpanther:PTHR10527,hmmpanther:PTHR10527:SF6,Low_complexity_(Seg):seg,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	24181818	24181818	G	C	1	0	0	0	0	1	0	0	0	7698	1000	35	4		4	IPO4	14	24181818	Missense_Mutation	SNP	G	C3N-00556_TP	654197	24181818	82861900	356	17710											
FSCB	0	.	GRCh38	chr14	44504767	44504767	+	Missense_Mutation	SNP	G	G	T																															aggggtttgttcagatggtgGaggtgaaacttcagcagagg																								rs755677517		C3N-00556_TP	C3N-00556_NB	G	G																c.2221C>A	p.Pro741Thr	p.P741T	ENST00000340446	1/1	256	191	65	261	261	0	strelka-varscan-mutect	FSCB,missense_variant,p.Pro741Thr,ENST00000340446,NM_032135.3;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	T	ENST00000340446	Transcript	missense_variant	2513/2938	2221/2478	741/825	P/T	Cca/Aca	rs755677517	1		-1	FSCB	HGNC	HGNC:20494	protein_coding	YES	CCDS9679.1	ENSP00000344579	Q5H9T9		UPI00001FD466	NM_032135.3	tolerated(0.11)		1/1		hmmpanther:PTHR36135																	MODERATE		SNV				1										PASS		rs755677517	.												T	3	4	55	44504767	44504767	G	T	1	0	0	0	0	1	0	0	0	5939	1174	41	2		2	FSCB	14	44504767	Missense_Mutation	SNP	G	C3N-00556_TP	20322949	44504767	62538951	357	17711	378	2									
FSCB	0	.	GRCh38	chr14	44504768	44504768	+	Silent	SNP	A	A	T																															ggggtttgttcagatggtggAggtgaaacttcagcagaggc																								novel		C3N-00556_TP	C3N-00556_NB	A	A																c.2220T>A	p.=	p.P740P	ENST00000340446	1/1	249	186	63	262	262	0	strelka-varscan-mutect	FSCB,synonymous_variant,p.=,ENST00000340446,NM_032135.3;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	T	ENST00000340446	Transcript	synonymous_variant	2512/2938	2220/2478	740/825	P	ccT/ccA		1		-1	FSCB	HGNC	HGNC:20494	protein_coding	YES	CCDS9679.1	ENSP00000344579	Q5H9T9		UPI00001FD466	NM_032135.3			1/1		hmmpanther:PTHR36135																	LOW		SNV				1										PASS		.	.												T	2	4	55	44504768	44504768	A	T	1	0	0	0	0	0	0	0	1	5939	291	11	4		4	FSCB	14	44504768	Silent	SNP	A	C3N-00556_TP	1	44504768	62538950	358	17712	378	2									
FRMD6	0	.	GRCh38	chr14	51720059	51720059	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttccccaccacgtagagaaGaagcagtaccgggaatctta	13	7	10	11	2	1	2	0	0	1	2	2	4	2	3	4	1	2	4	4	1	6	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1029G>A	p.=	p.K343K	ENST00000344768	11/14	73	68	5	78	78	0	strelka-varscan-mutect	FRMD6,synonymous_variant,p.=,ENST00000395718,NM_152330.3;FRMD6,synonymous_variant,p.=,ENST00000356218,NM_001042481.2;FRMD6,synonymous_variant,p.=,ENST00000554167,;FRMD6,synonymous_variant,p.=,ENST00000344768,NM_001267046.1;FRMD6,synonymous_variant,p.=,ENST00000555197,;FRMD6,5_prime_UTR_variant,,ENST00000553556,NM_001267047.1;FRMD6,5_prime_UTR_variant,,ENST00000555703,;RNU6-301P,upstream_gene_variant,,ENST00000384277,;FRMD6,downstream_gene_variant,,ENST00000557183,;FRMD6,non_coding_transcript_exon_variant,,ENST00000557522,;	A	ENST00000344768	Transcript	synonymous_variant	1225/2972	1029/1869	343/622	K	aaG/aaA		1		1	FRMD6	HGNC	HGNC:19839	protein_coding	YES	CCDS58318.1	ENSP00000343899	Q96NE9		UPI00000473F6	NM_001267046.1			11/14		hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF9,Superfamily_domains:SSF50729																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	55	51720059	51720059	G	A	1	0	0	0	0	0	0	0	1	5924	956	33	3		3	FRMD6	14	51720059	Silent	SNP	G	C3N-00556_TP	7215291	51720059	55323659	359	17713											
PPP1R36	0	.	GRCh38	chr14	64589151	64589151	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccaataattcttttcacaGagttggcatcttgggggagc	9	13	10	9	0	3	1	1	0	2	1	4	2	4	2	1	3	1	2	1	3	2	6	rs759921647		C3N-00556_TP	C3N-00556_NB	G	G																c.1083-1G>C		p.X361_splice	ENST00000298705		75	67	8	127	127	0	strelka-varscan-mutect	PPP1R36,splice_acceptor_variant,,ENST00000298705,NM_172365.2;RP11-973N13.3,intron_variant,,ENST00000556634,;RP11-973N13.3,intron_variant,,ENST00000554454,;PPP1R36,splice_acceptor_variant,,ENST00000554400,;PPP1R36,splice_acceptor_variant,,ENST00000467261,;PPP1R36,downstream_gene_variant,,ENST00000556023,;	C	ENST00000298705	Transcript	splice_acceptor_variant	-/1405	1083/1269	361/422			rs759921647	1		1	PPP1R36	HGNC	HGNC:20097	protein_coding	YES	CCDS9767.1	ENSP00000298705	Q96LQ0		UPI0000070446	NM_172365.2				11/11																		HIGH	1	SNV	1			1										PASS		rs759921647	.												C	5	2	55	64589151	64589151	G	C	1	0	0	0	0	0	0	1	0	12490	956	33	4		4	PPP1R36	14	64589151	Splice_Site	SNP	G	C3N-00556_TP	12869092	64589151	42454567	360	17714											
GALNT16	0	.	GRCh38	chr14	69348015	69348015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcaggtgagtctccttGcctctggcccagaggcccag	7	7	13	14	0	2	2	0	1	2	1	3	2	2	2	4	3	2	2	4	3	1	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1552G>A	p.Ala518Thr	p.A518T	ENST00000553669	14/14	190	163	27	168	168	0	strelka-varscan-mutect	GALNT16,missense_variant,p.Ala518Thr,ENST00000553669,;GALNT16,intron_variant,,ENST00000337827,NM_001168368.1,NM_020692.2;GALNT16,intron_variant,,ENST00000448469,;GALNT16,upstream_gene_variant,,ENST00000556829,;GALNT16,missense_variant,p.Ala518Thr,ENST00000553471,;	A	ENST00000553669	Transcript	missense_variant	1552/1629	1552/1629	518/542	A/T	Gcc/Acc		1		1	GALNT16	HGNC	HGNC:23233	protein_coding			ENSP00000451200	Q8N428		UPI00001FD777		tolerated(0.57)		14/14		Pfam_domain:PF00652																	MODERATE		SNV	1			1										PASS		rs1192532792	.												A	3	1	55	69348015	69348015	G	A	1	0	0	0	0	1	0	0	0	6082	1319	46	3		3	GALNT16	14	69348015	Missense_Mutation	SNP	G	C3N-00556_TP	4758864	69348015	37695703	361	17715											
C14orf1	0	.	GRCh38	chr14	75651877	75651877	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaaggtccagagtgtGatgtgatagagcctataagg	13	8	16	4	0	0	4	0	2	0	2	1	6	1	6	2	4	1	0	2	4	4	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.237C>A	p.=	p.I79I	ENST00000256319	4/5	134	120	14	175	173	2	strelka-varscan-mutect	C14orf1,synonymous_variant,p.=,ENST00000256319,NM_007176.3;FLVCR2,intron_variant,,ENST00000553587,;FLVCR2,downstream_gene_variant,,ENST00000238667,NM_017791.2;FLVCR2,downstream_gene_variant,,ENST00000556856,;FLVCR2,intron_variant,,ENST00000556241,;TTLL5,intron_variant,,ENST00000556265,;FLVCR2,intron_variant,,ENST00000555385,;TTLL5,intron_variant,,ENST00000554132,;	T	ENST00000256319	Transcript	synonymous_variant	683/2633	237/423	79/140	I	atC/atA		1		-1	C14orf1	HGNC	HGNC:1187	protein_coding	YES	CCDS9845.1	ENSP00000256319	Q9UKR5	Q6FII3	UPI0000127BDF	NM_007176.3			4/5		Pfam_domain:PF03694,hmmpanther:PTHR15451,hmmpanther:PTHR15451:SF19,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs1438669946	.												T	2	4	55	75651877	75651877	G	T	1	0	0	0	0	0	0	0	1	1826	1280	45	2		2	C14orf1	14	75651877	Silent	SNP	G	C3N-00556_TP	6303862	75651877	31391841	362	17716											
TTLL5	0	.	GRCh38	chr14	75776761	75776761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtaggaaacagaacaaatGgctgaaaagaaatcaaagaa	22	4	11	4	0	1	4	1	1	0	3	1	5	1	5	0	3	2	2	0	3	9	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2298G>T	p.Met766Ile	p.M766I	ENST00000298832	23/32	150	135	15	158	158	0	strelka-mutect	TTLL5,missense_variant,p.Met766Ile,ENST00000298832,NM_015072.4;TTLL5,missense_variant,p.Met780Ile,ENST00000557636,;TTLL5,missense_variant,p.Met317Ile,ENST00000556893,;TTLL5,missense_variant,p.Met275Ile,ENST00000554510,;TTLL5,non_coding_transcript_exon_variant,,ENST00000555422,;	T	ENST00000298832	Transcript	missense_variant	2503/4683	2298/3846	766/1281	M/I	atG/atT		1		1	TTLL5	HGNC	HGNC:19963	protein_coding	YES	CCDS32124.1	ENSP00000298832	Q6EMB2		UPI00003FF22B	NM_015072.4	deleterious(0.01)		23/32		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	75776761	75776761	G	T	1	0	0	0	0	1	0	0	0	17241	1348	47	2		2	TTLL5	14	75776761	Missense_Mutation	SNP	G	C3N-00556_TP	124884	75776761	31266957	363	17717											
NOXRED1	0	.	GRCh38	chr14	77407514	77407514	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtacacaatgctggccttctCaaggctggtgtaaatttcta	10	13	9	9	0	2	0	1	0	2	0	3	0	2	0	1	3	2	4	1	3	6	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.481G>C	p.Glu161Gln	p.E161Q	ENST00000380835	3/6	164	148	16	152	152	0	strelka-mutect	NOXRED1,missense_variant,p.Glu161Gln,ENST00000380835,NM_001113475.2;NOXRED1,missense_variant,p.Glu161Gln,ENST00000555603,;NOXRED1,non_coding_transcript_exon_variant,,ENST00000555901,;	G	ENST00000380835	Transcript	missense_variant	648/1857	481/1080	161/359	E/Q	Gag/Cag		1		-1	NOXRED1	HGNC	HGNC:20487	protein_coding	YES	CCDS45142.1	ENSP00000370215	Q6NXP6		UPI0000407F20	NM_001113475.2	tolerated(0.73)		3/6		Gene3D:3.40.50.720,Pfam_domain:PF03807,hmmpanther:PTHR11645,hmmpanther:PTHR11645:SF7,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	77407514	77407514	C	G	1	0	0	0	0	1	0	0	0	10608	835	29	4		4	NOXRED1	14	77407514	Missense_Mutation	SNP	C	C3N-00556_TP	1630753	77407514	29636204	364	17718											
DIO2	0	.	GRCh38	chr14	80203056	80203056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagcaggaagtcagccactGaggagaactcttccaccagt	12	6	10	13	0	2	2	1	1	1	1	3	4	3	3	4	2	3	1	4	2	2	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.563C>T	p.Ser188Leu	p.S188L	ENST00000555750	3/3	110	97	13	176	175	1	strelka-varscan-mutect	DIO2,stop_gained,p.Gln27Ter,ENST00000557125,;DIO2,missense_variant,p.Ser152Leu,ENST00000557010,NM_001324462.1,NM_000793.5;DIO2,missense_variant,p.Ser152Leu,ENST00000438257,NM_013989.4;DIO2,missense_variant,p.Ser188Leu,ENST00000555750,NM_001007023.3;DIO2,3_prime_UTR_variant,,ENST00000422005,NM_001242503.2,NM_001242502.1;DIO2,3_prime_UTR_variant,,ENST00000556811,;DIO2,3_prime_UTR_variant,,ENST00000555844,;	A	ENST00000555750	Transcript	missense_variant	591/1049	563/930	188/309	S/L	tCa/tTa		1		-1	DIO2	HGNC	HGNC:2884	protein_coding	YES	CCDS55934.1	ENSP00000450980		A0A0A0MTQ2	UPI000046D384	NM_001007023.3	deleterious(0.04)		3/3		Gene3D:3.40.30.10,Pfam_domain:PF00837,hmmpanther:PTHR11781,hmmpanther:PTHR11781:SF3,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	80203056	80203056	G	A	1	0	0	0	0	1	0	0	0	4330	1303	45	3		3	DIO2	14	80203056	Missense_Mutation	SNP	G	C3N-00556_TP	2795542	80203056	26840662	365	17719											
CEP128	0	.	GRCh38	chr14	80831214	80831214	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtttcacttcctctaactCagatgccattgcgctgaagt	8	13	7	13	2	3	2	2	1	1	1	4	2	4	2	3	0	3	2	3	0	2	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1138G>T	p.Glu380Ter	p.E380*	ENST00000555265	13/25	252	214	38	281	280	1	strelka-varscan-mutect	CEP128,stop_gained,p.Glu380Ter,ENST00000555265,;CEP128,stop_gained,p.Glu380Ter,ENST00000281129,NM_152446.3;CEP128,stop_gained,p.Glu259Ter,ENST00000554827,;CEP128,stop_gained,p.Glu380Ter,ENST00000216517,;CEP128,stop_gained,p.Glu72Ter,ENST00000554502,;	A	ENST00000555265	Transcript	stop_gained	1514/4662	1138/3285	380/1094	E/*	Gag/Tag		1		-1	CEP128	HGNC	HGNC:20359	protein_coding	YES	CCDS32130.1	ENSP00000451162	Q6ZU80		UPI000022982E				13/25		hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF205																	HIGH	1	SNV	5			1										PASS		rs762635519	.												A	4	1	55	80831214	80831214	C	A	1	0	0	0	0	0	1	0	0	2958	835	29	2		2	CEP128	14	80831214	Nonsense_Mutation	SNP	C	C3N-00556_TP	628158	80831214	26212504	366	17720											
NRDE2	0	.	GRCh38	chr14	90290433	90290433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagtcaagggcttttcatCataaagtccattatcaaaga	17	11	6	7	0	4	1	4	0	0	1	5	1	5	1	1	1	0	1	1	1	7	4	rs773313077		C3N-00556_TP	C3N-00556_NB	C	C																c.2017G>A	p.Asp673Asn	p.D673N	ENST00000354366	10/14	196	180	16	217	217	0	strelka-varscan-mutect	NRDE2,missense_variant,p.Asp673Asn,ENST00000354366,NM_017970.3;NRDE2,downstream_gene_variant,,ENST00000554464,;NRDE2,3_prime_UTR_variant,,ENST00000553409,;NRDE2,3_prime_UTR_variant,,ENST00000556189,;NRDE2,upstream_gene_variant,,ENST00000555903,;	T	ENST00000354366	Transcript	missense_variant	2250/14208	2017/3495	673/1164	D/N	Gat/Aat	rs773313077	1		-1	NRDE2	HGNC	HGNC:20186	protein_coding	YES	CCDS9890.1	ENSP00000346335	Q9H7Z3		UPI00001FD9DB	NM_017970.3	tolerated(0.28)		10/14		hmmpanther:PTHR13471,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		rs773313077	.												T	3	4	55	90290433	90290433	C	T	1	0	0	0	0	1	0	0	0	10702	826	29	3		3	NRDE2	14	90290433	Missense_Mutation	SNP	C	C3N-00556_TP	9459219	90290433	16753285	367	17721											
RPS6KA5	0	.	GRCh38	chr14	90978451	90978451	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaacgattgttgcctttttCaaaactttcatggcatacag	11	15	7	8	1	2	1	2	1	0	0	2	2	2	1	1	1	4	2	1	1	4	6	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.249G>C	p.Leu83Phe	p.L83F	ENST00000614987	3/17	108	101	7	163	163	0	strelka-varscan-mutect	RPS6KA5,missense_variant,p.Leu83Phe,ENST00000614987,NM_004755.2;RPS6KA5,missense_variant,p.Leu4Phe,ENST00000536315,;RPS6KA5,missense_variant,p.Leu83Phe,ENST00000418736,NM_182398.1;RPS6KA5,missense_variant,p.Leu25Phe,ENST00000556178,;RPS6KA5,missense_variant,p.Leu83Phe,ENST00000554206,;RPS6KA5,3_prime_UTR_variant,,ENST00000556594,;	G	ENST00000614987	Transcript	missense_variant	423/26795	249/2409	83/802	L/F	ttG/ttC		1		-1	RPS6KA5	HGNC	HGNC:10434	protein_coding	YES	CCDS9893.1	ENSP00000479667	O75582		UPI0000031C30	NM_004755.2	deleterious(0)		3/17		Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF000606,PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF48,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	90978451	90978451	C	G	1	0	0	0	0	1	0	0	0	13909	825	29	4		4	RPS6KA5	14	90978451	Missense_Mutation	SNP	C	C3N-00556_TP	688018	90978451	16065267	368	17722											
UNC79	0	.	GRCh38	chr14	93538184	93538184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacgcgggaatgcggcgctGaggagctggtctgcgccgtg	6	6	18	11	6	1	1	0	1	1	0	1	3	1	3	1	4	3	2	1	4	1	0			C3N-00556_TP	C3N-00556_NB	G	G																c.787G>A	p.Glu263Lys	p.E263K	ENST00000256339	12/50	58	53	5	80	80	0	strelka-varscan-mutect	UNC79,missense_variant,p.Glu440Lys,ENST00000553484,;UNC79,missense_variant,p.Glu440Lys,ENST00000555664,;UNC79,missense_variant,p.Glu263Lys,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Glu440Lys,ENST00000393151,;UNC79,missense_variant,p.Glu263Lys,ENST00000621021,;	A	ENST00000256339	Transcript	missense_variant	1442/8400	787/7377	263/2458	E/K	Gag/Aag	COSM3956303,COSM3956304,COSM4623047,COSM4623048	1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3	tolerated(0.09)		12/50		hmmpanther:PTHR21696:SF2,hmmpanther:PTHR21696,Pfam_domain:PF14776											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		.	.												A	3	1	55	93538184	93538184	G	A	1	0	0	0	0	1	0	0	0	17520	1291	45	3		3	UNC79	14	93538184	Missense_Mutation	SNP	G	C3N-00556_TP	2559733	93538184	13505534	369	17723											
BCL11B	0	.	GRCh38	chr14	99175485	99175485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacttgtagggcttctcgcCcgtgtgactgcgccggtgca	4	10	14	13	4	1	1	0	1	1	0	2	1	1	1	2	2	2	4	2	2	1	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1351G>T	p.Gly451Cys	p.G451C	ENST00000357195	4/4	202	186	16	216	216	0	strelka-mutect	BCL11B,missense_variant,p.Gly380Cys,ENST00000345514,NM_001282238.1,NM_022898.2;BCL11B,missense_variant,p.Gly451Cys,ENST00000357195,NM_001282237.1,NM_138576.3;BCL11B,missense_variant,p.Gly257Cys,ENST00000443726,;	A	ENST00000357195	Transcript	missense_variant	1361/7559	1351/2685	451/894	G/C	Ggc/Tgc		1		-1	BCL11B	HGNC	HGNC:13222	protein_coding	YES	CCDS9950.1	ENSP00000349723	Q9C0K0	L8B7P7	UPI000006E083	NM_001282237.1,NM_138576.3	deleterious(0)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	99175485	99175485	C	A	1	0	0	0	0	1	0	0	0	1511	623	22	2		2	BCL11B	14	99175485	Missense_Mutation	SNP	C	C3N-00556_TP	5637301	99175485	7868233	370	17724											
BEGAIN	0	.	GRCh38	chr14	100543936	100543936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaacaatctcgtggctcagCgcacgcttctcctcctcata	8	10	7	16	3	4	0	2	0	2	0	7	0	5	0	2	1	2	4	2	1	3	2	rs747563702		C3N-00556_TP	C3N-00556_NB	C	C																c.273G>A	p.=	p.A91A	ENST00000443071	4/6	180	160	20	160	160	0	strelka-varscan-mutect	BEGAIN,synonymous_variant,p.=,ENST00000637716,;BEGAIN,synonymous_variant,p.=,ENST00000637646,;BEGAIN,synonymous_variant,p.=,ENST00000443071,NM_001159531.1;BEGAIN,synonymous_variant,p.=,ENST00000355173,NM_020836.3;BEGAIN,synonymous_variant,p.=,ENST00000556188,;BEGAIN,synonymous_variant,p.=,ENST00000553553,;BEGAIN,synonymous_variant,p.=,ENST00000554356,;BEGAIN,synonymous_variant,p.=,ENST00000557378,;BEGAIN,synonymous_variant,p.=,ENST00000554140,;CTD-2062F14.3,downstream_gene_variant,,ENST00000553301,;BEGAIN,downstream_gene_variant,,ENST00000554747,;BEGAIN,non_coding_transcript_exon_variant,,ENST00000556751,;BEGAIN,downstream_gene_variant,,ENST00000554274,;	T	ENST00000443071	Transcript	synonymous_variant	419/2744	273/1782	91/593	A	gcG/gcA	rs747563702	1		-1	BEGAIN	HGNC	HGNC:24163	protein_coding	YES	CCDS9962.1	ENSP00000411124	Q9BUH8		UPI00000710B1	NM_001159531.1			4/6		hmmpanther:PTHR28664,hmmpanther:PTHR28664:SF2																	LOW	1	SNV	1			1										PASS		rs747563702	.												T	2	4	55	100543936	100543936	C	T	1	0	0	0	0	0	0	0	1	1545	755	27	1		1	BEGAIN	14	100543936	Silent	SNP	C	C3N-00556_TP	1368451	100543936	6499782	371	17725											
DYNC1H1	0	.	GRCh38	chr14	102036541	102036541	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagaattcattatgaatGaatataaggatcgtaagatc	17	11	7	6	1	1	4	1	2	0	2	3	5	1	5	1	1	0	1	1	1	7	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.10807G>T	p.Glu3603Ter	p.E3603*	ENST00000360184	57/78	291	274	17	331	331	0	strelka-varscan-mutect	DYNC1H1,stop_gained,p.Glu3603Ter,ENST00000360184,NM_001376.4;DYNC1H1,stop_gained,p.Glu79Ter,ENST00000553423,;RP11-1017G21.4,non_coding_transcript_exon_variant,,ENST00000557551,;RP11-1017G21.4,downstream_gene_variant,,ENST00000557242,;RP11-1017G21.4,downstream_gene_variant,,ENST00000553701,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000556791,;DYNC1H1,upstream_gene_variant,,ENST00000556139,;DYNC1H1,upstream_gene_variant,,ENST00000556499,;DYNC1H1,upstream_gene_variant,,ENST00000555800,;	T	ENST00000360184	Transcript	stop_gained	10971/14333	10807/13941	3603/4646	E/*	Gaa/Taa		1		1	DYNC1H1	HGNC	HGNC:2961	protein_coding	YES	CCDS9966.1	ENSP00000348965	Q14204		UPI00001B515A	NM_001376.4			57/78		Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF28																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	55	102036541	102036541	G	T	1	0	0	0	0	0	1	0	0	4665	1291	45	2		2	DYNC1H1	14	102036541	Nonsense_Mutation	SNP	G	C3N-00556_TP	1492605	102036541	5007177	372	17726											
CRIP2	0	.	GRCh38	chr14	105479217	105479217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgacccccggcgggcacgcgGaggtgaggggagtgcaacgg	7	3	20	11	5	0	2	0	2	0	0	0	4	0	4	2	7	2	2	2	7	1	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.721G>A	p.Glu241Lys	p.E241K	ENST00000483017	6/8	115	101	14	141	141	0	strelka-varscan-mutect	CRIP2,missense_variant,p.Glu167Lys,ENST00000329146,NM_001312.3;CRIP2,missense_variant,p.Glu241Lys,ENST00000483017,NM_001270837.1;CRIP2,missense_variant,p.Glu151Lys,ENST00000538259,;CRIP2,missense_variant,p.Glu63Lys,ENST00000550577,NM_001270841.1;CRIP2,splice_region_variant,,ENST00000548989,;CRIP2,splice_region_variant,,ENST00000548309,;CRIP2,downstream_gene_variant,,ENST00000548923,;CRIP2,splice_region_variant,,ENST00000552643,;CRIP2,non_coding_transcript_exon_variant,,ENST00000547643,;CRIP2,non_coding_transcript_exon_variant,,ENST00000551738,;CRIP2,downstream_gene_variant,,ENST00000551836,;	A	ENST00000483017	Transcript	missense_variant,splice_region_variant	1007/1176	721/849	241/282	E/K	Gag/Aag		1		1	CRIP2	HGNC	HGNC:2361	protein_coding	YES	CCDS59246.1	ENSP00000426119	P52943		UPI0001914E41	NM_001270837.1	deleterious(0)		6/8		PROSITE_profiles:PS50023,hmmpanther:PTHR24208,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	55	105479217	105479217	G	A	1	0	0	0	0	1	0	0	0	3676	1188	41	3		3	CRIP2	14	105479217	Missense_Mutation	SNP	G	C3N-00556_TP	3442676	105479217	1564501	373	17727											
MAGEL2	0	.	GRCh38	chr15	23645929	23645929	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgcacctcctggaatTccattgacgttggaatctcg	7	13	9	12	2	2	1	0	1	2	0	5	3	4	3	3	2	2	3	3	2	2	3	novel		C3N-00556_TP	C3N-00556_NB	T	T																c.1814A>T	p.Glu605Val	p.E605V	ENST00000532292	1/1	230	205	25	248	248	0	strelka-varscan-mutect	MAGEL2,missense_variant,p.Glu605Val,ENST00000532292,NM_019066.4;	A	ENST00000532292	Transcript	missense_variant	1913/4298	1814/3750	605/1249	E/V	gAa/gTa		1		-1	MAGEL2	HGNC	HGNC:6814	protein_coding	YES	CCDS73700.1	ENSP00000433433	Q9UJ55		UPI0001B3CB28	NM_019066.4	deleterious_low_confidence(0)		1/1																			MODERATE	1	SNV				1										PASS		rs925734791	.												A	3	1	55	23645929	23645929	T	A	1	0	0	0	0	1	0	0	0	9107	1783	62	4		4	MAGEL2	15	23645929	Missense_Mutation	SNP	T	C3N-00556_TP		23645929	78345260	374	17728											
GOLGA8M	0	.	GRCh38	chr15	28710523	28710523	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaccaccagaagtggctgtCtgagggatactgccatttgt	10	10	11	10	0	1	2	0	1	1	1	1	3	1	3	3	2	3	1	3	2	3	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.132G>A	p.=	p.Q44Q	ENST00000563027	2/19	79	74	5	119	118	1	varscan-mutect	GOLGA8M,synonymous_variant,p.=,ENST00000563027,NM_001282468.1;GOLGA8M,non_coding_transcript_exon_variant,,ENST00000563213,;	T	ENST00000563027	Transcript	synonymous_variant	132/1899	132/1899	44/632	Q	caG/caA		1		-1	GOLGA8M	HGNC	HGNC:44404	protein_coding	YES	CCDS61572.1	ENSP00000456927	H3BSY2		UPI0001A5E7A0	NM_001282468.1			2/19		hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	55	28710523	28710523	C	T	1	0	0	0	0	0	0	0	1	6454	912	32	3		3	GOLGA8M	15	28710523	Silent	SNP	C	C3N-00556_TP	5064594	28710523	73280666	375	17729											
STARD9	0	.	GRCh38	chr15	42688335	42688335	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagactgtgaaaggttttCaggaaagccaagtagctgaa	14	9	13	5	0	1	3	1	2	0	1	1	5	1	4	1	3	2	3	1	3	5	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.6757C>T	p.Gln2253Ter	p.Q2253*	ENST00000290607	23/33	180	164	16	236	236	0	strelka-varscan-mutect	STARD9,stop_gained,p.Gln2253Ter,ENST00000290607,NM_020759.2;STARD9,upstream_gene_variant,,ENST00000562619,;	T	ENST00000290607	Transcript	stop_gained	6814/15567	6757/14103	2253/4700	Q/*	Cag/Tag		1		1	STARD9	HGNC	HGNC:19162	protein_coding	YES	CCDS53935.1	ENSP00000290607	Q9P2P6		UPI0001BE8155	NM_020759.2			23/33																			HIGH	1	SNV	5			1										PASS		.	.												T	4	4	55	42688335	42688335	C	T	1	0	0	0	0	0	1	0	0	15639	827	29	3		3	STARD9	15	42688335	Nonsense_Mutation	SNP	C	C3N-00556_TP	13977812	42688335	59302854	376	17730											
PDIA3	0	.	GRCh38	chr15	43746651	43746651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggacgacaacttcgagagtCgcatctccgacacgggctct	9	7	11	14	6	2	1	0	0	2	1	5	5	2	2	1	2	1	2	1	2	1	1			C3N-00556_TP	C3N-00556_NB	C	C																c.112C>T	p.Arg38Cys	p.R38C	ENST00000300289	1/13	226	207	19	249	249	0	strelka-varscan-mutect	PDIA3,missense_variant,p.Arg38Cys,ENST00000300289,NM_005313.4;CATSPER2P1,non_coding_transcript_exon_variant,,ENST00000429276,;PDIA3,non_coding_transcript_exon_variant,,ENST00000469684,;CATSPER2P1,upstream_gene_variant,,ENST00000381680,;CATSPER2P1,upstream_gene_variant,,ENST00000416302,;PDIA3,missense_variant,p.Arg38Cys,ENST00000434494,;PDIA3,missense_variant,p.Arg14Cys,ENST00000455250,;PDIA3,missense_variant,p.Arg38Cys,ENST00000446523,;CATSPER2P1,upstream_gene_variant,,ENST00000439564,;	T	ENST00000300289	Transcript	missense_variant	260/3727	112/1518	38/505	R/C	Cgc/Tgc	COSM5626662	1		1	PDIA3	HGNC	HGNC:4606	protein_coding	YES	CCDS10101.1	ENSP00000300289	P30101	V9HVY3	UPI0000052A4F	NM_005313.4	deleterious(0.05)		1/13		PROSITE_profiles:PS51352,hmmpanther:PTHR18929:SF60,hmmpanther:PTHR18929,TIGRFAM_domain:TIGR01130,TIGRFAM_domain:TIGR01126,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	55	43746651	43746651	C	T	1	0	0	0	0	1	0	0	0	11757	884	31	1		1	PDIA3	15	43746651	Missense_Mutation	SNP	C	C3N-00556_TP	1058316	43746651	58244538	377	17731											
CCPG1	0	.	GRCh38	chr15	55359751	55359751	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgaactgatcaagttcgttCcagtgacaaaaagtatccag	15	10	8	8	1	1	3	1	3	0	0	4	3	3	3	2	0	1	3	2	0	5	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2022G>A	p.Trp674Ter	p.W674*	ENST00000442196	8/9	135	113	22	189	189	0	strelka-varscan-mutect	CCPG1,stop_gained,p.Trp674Ter,ENST00000310958,NM_004748.4,NM_020739.3;CCPG1,stop_gained,p.Trp674Ter,ENST00000442196,NM_001204450.1;CCPG1,stop_gained,p.Trp674Ter,ENST00000569205,;CCPG1,intron_variant,,ENST00000425574,NM_001204451.1;CCPG1,intron_variant,,ENST00000568543,;CCPG1,intron_variant,,ENST00000568592,;PIGB,downstream_gene_variant,,ENST00000164305,NM_004855.4;PIGB,downstream_gene_variant,,ENST00000539642,;CCPG1,upstream_gene_variant,,ENST00000564663,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000565113,;CCPG1,3_prime_UTR_variant,,ENST00000568808,;CCPG1,non_coding_transcript_exon_variant,,ENST00000568372,;PIGB,downstream_gene_variant,,ENST00000563742,;PIGB,downstream_gene_variant,,ENST00000565367,;PIGB,downstream_gene_variant,,ENST00000565502,;PIGB,downstream_gene_variant,,ENST00000562751,;	T	ENST00000442196	Transcript	stop_gained	2070/3453	2022/2424	674/807	W/*	tgG/tgA		1		-1	CCPG1	HGNC	HGNC:24227	protein_coding	YES	CCDS55966.1	ENSP00000403400	Q9ULG6		UPI0000D61347	NM_001204450.1			8/9		hmmpanther:PTHR28638,hmmpanther:PTHR28638:SF2																	HIGH		SNV	2			1										PASS		.	.												T	4	4	55	55359751	55359751	C	T	1	0	0	0	0	0	1	0	0	2638	856	30	3		3	CCPG1	15	55359751	Nonsense_Mutation	SNP	C	C3N-00556_TP	11613100	55359751	46631438	378	17732											
DENND4A	0	.	GRCh38	chr15	65701170	65701170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccactacgacttcttgaaGgccaggtactttccaaaaca	13	9	7	12	1	1	1	0	1	1	0	2	2	2	1	3	2	4	1	3	2	5	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2582C>T	p.Pro861Leu	p.P861L	ENST00000443035	19/33	110	93	17	169	169	0	strelka-mutect	DENND4A,missense_variant,p.Pro861Leu,ENST00000443035,NM_001320835.1,NM_001144823.1;DENND4A,missense_variant,p.Pro861Leu,ENST00000635620,;DENND4A,missense_variant,p.Pro861Leu,ENST00000431932,NM_005848.3;DENND4A,missense_variant,p.Pro861Leu,ENST00000564674,;snoU13,upstream_gene_variant,,ENST00000459325,;DENND4A,non_coding_transcript_exon_variant,,ENST00000562028,;	A	ENST00000443035	Transcript	missense_variant	2798/8665	2582/5721	861/1906	P/L	cCt/cTt		1		-1	DENND4A	HGNC	HGNC:24321	protein_coding	YES	CCDS53949.1	ENSP00000391167	Q7Z401		UPI000013EDF7	NM_001320835.1,NM_001144823.1	deleterious(0)		19/33		hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	65701170	65701170	G	A	1	0	0	0	0	1	0	0	0	4237	1000	35	3		3	DENND4A	15	65701170	Missense_Mutation	SNP	G	C3N-00556_TP	10341419	65701170	36290019	379	17733											
SNAPC5	0	.	GRCh38	chr15	66497678	66497678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcgtgcagggctgccttCaaccgcagcagcgtctcctc	5	9	12	15	3	2	0	1	0	1	0	5	0	2	0	3	2	5	4	3	2	1	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.54G>T	p.Leu18Phe	p.L18F	ENST00000316634	1/3	137	128	9	138	138	0	strelka-varscan-mutect	SNAPC5,missense_variant,p.Leu18Phe,ENST00000316634,;SNAPC5,missense_variant,p.Leu18Phe,ENST00000563480,;SNAPC5,missense_variant,p.Leu18Phe,ENST00000307979,;SNAPC5,missense_variant,p.Leu18Phe,ENST00000395589,NM_006049.2;SNAPC5,missense_variant,p.Leu18Phe,ENST00000566658,;RPL4,downstream_gene_variant,,ENST00000307961,NM_000968.3;RPL4,downstream_gene_variant,,ENST00000568588,;RPL4,downstream_gene_variant,,ENST00000569696,;RPL4,downstream_gene_variant,,ENST00000569438,;MIR4512,upstream_gene_variant,,ENST00000583257,;SNORD18B,downstream_gene_variant,,ENST00000365659,;snoU18,downstream_gene_variant,,ENST00000629629,;SNORD18C,downstream_gene_variant,,ENST00000362704,;RPL4,downstream_gene_variant,,ENST00000563473,;RPL4,downstream_gene_variant,,ENST00000565723,;SNAPC5,missense_variant,p.Leu18Phe,ENST00000568875,;SNAPC5,missense_variant,p.Leu18Phe,ENST00000565465,;SNAPC5,missense_variant,p.Leu18Phe,ENST00000562411,;RPL4,downstream_gene_variant,,ENST00000567229,;RPL4,downstream_gene_variant,,ENST00000561775,;RPL4,downstream_gene_variant,,ENST00000564647,;RPL4,downstream_gene_variant,,ENST00000566039,;RPL4,downstream_gene_variant,,ENST00000566624,;RPL4,downstream_gene_variant,,ENST00000566622,;RPL4,downstream_gene_variant,,ENST00000564744,;RPL4,downstream_gene_variant,,ENST00000564439,;	A	ENST00000316634	Transcript	missense_variant	136/1002	54/297	18/98	L/F	ttG/ttT		1		-1	SNAPC5	HGNC	HGNC:15484	protein_coding	YES	CCDS10217.1	ENSP00000319597	O75971	A0A024R5X1	UPI0000135B25		deleterious_low_confidence(0.01)		1/3		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15333,hmmpanther:PTHR15333:SF2,Pfam_domain:PF15497																	MODERATE	1	SNV	1			1										PASS		rs1172928359	.												A	3	1	55	66497678	66497678	C	A	1	0	0	0	0	1	0	0	0	15159	825	29	2		2	SNAPC5	15	66497678	Missense_Mutation	SNP	C	C3N-00556_TP	796508	66497678	35493511	380	17734											
TMEM202	0	.	GRCh38	chr15	72398334	72398334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actaactgccaagatggagcGaagggaacatttaaccttga	15	8	10	8	1	0	2	0	1	0	1	0	5	0	4	2	2	5	0	2	2	5	4	rs148351239		C3N-00556_TP	C3N-00556_NB	G	G																c.8G>A	p.Arg3Gln	p.R3Q	ENST00000341689	1/5	106	98	8	114	114	0	strelka-varscan-mutect	TMEM202,missense_variant,p.Arg3Gln,ENST00000341689,NM_001080462.1;TMEM202,missense_variant,p.Arg3Gln,ENST00000567679,;TMEM202,missense_variant,p.Arg3Gln,ENST00000568167,;	A	ENST00000341689	Transcript	missense_variant	62/1012	8/822	3/273	R/Q	cGa/cAa	rs148351239	1		1	TMEM202	HGNC	HGNC:33733	protein_coding	YES	CCDS32287.1	ENSP00000340212	A6NGA9		UPI000049DDE8	NM_001080462.1	tolerated(0.08)		1/5																			MODERATE	1	SNV	5			1										PASS		rs148351239	.												A	3	1	55	72398334	72398334	G	A	1	0	0	0	0	1	0	0	0	16566	1058	37	1		1	TMEM202	15	72398334	Missense_Mutation	SNP	G	C3N-00556_TP	5900656	72398334	29592855	381	17735											
SH3GL3	0	.	GRCh38	chr15	83618231	83618231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaaggaatgatacacggaGaatcgggattcttccccatt	13	10	10	8	2	1	3	0	2	1	1	3	6	2	5	2	3	1	0	2	3	4	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1012G>A	p.Glu338Lys	p.E338K	ENST00000324537	12/12	177	161	16	241	241	0	strelka-varscan-mutect	SH3GL3,missense_variant,p.Glu338Lys,ENST00000324537,NM_001301109.1;SH3GL3,missense_variant,p.Glu330Lys,ENST00000427482,NM_001301108.1,NM_003027.4;SH3GL3,non_coding_transcript_exon_variant,,ENST00000564054,;SH3GL3,non_coding_transcript_exon_variant,,ENST00000467735,;SH3GL3,3_prime_UTR_variant,,ENST00000563901,;	A	ENST00000324537	Transcript	missense_variant	1504/2012	1012/1068	338/355	E/K	Gaa/Aaa		1		1	SH3GL3	HGNC	HGNC:10832	protein_coding	YES	CCDS73772.1	ENSP00000320092	Q99963		UPI000002B391	NM_001301109.1	tolerated(0.5)		12/12		PROSITE_profiles:PS50002,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF158,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	55	83618231	83618231	G	A	1	0	0	0	0	1	0	0	0	14511	943	33	3		3	SH3GL3	15	83618231	Missense_Mutation	SNP	G	C3N-00556_TP	11219897	83618231	18372958	382	17736											
AGBL1	0	.	GRCh38	chr15	86279703	86279703	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgctactataccctcAcctttgctgtcaccttccca	8	12	6	15	0	2	0	2	0	0	0	3	1	3	1	4	1	4	2	4	1	4	5			C3N-00556_TP	C3N-00556_NB	A	A																c.2140A>T	p.Thr714Ser	p.T714S	ENST00000441037	16/25	205	192	13	184	184	0	strelka-varscan-mutect	AGBL1,missense_variant,p.Thr714Ser,ENST00000441037,;AGBL1,missense_variant,p.Thr668Ser,ENST00000635782,NM_152336.2;AGBL1,missense_variant,p.Thr668Ser,ENST00000421325,;AGBL1,non_coding_transcript_exon_variant,,ENST00000567715,;AGBL1,non_coding_transcript_exon_variant,,ENST00000568785,;	T	ENST00000441037	Transcript	missense_variant	2140/3551	2140/3339	714/1112	T/S	Acc/Tcc	COSM3504946,COSM3504947,COSM4660311,COSM4660312,COSM4660313	1		1	AGBL1	Clone_based_vega_gene	HGNC:26504	protein_coding	YES		ENSP00000413001	Q96MI9		UPI000387C1D9		tolerated(0.1)		16/25		hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF5											1,1,1,1,1						MODERATE	1	SNV	5		1,1,1,1,1	1										PASS		.	.												T	3	4	55	86279703	86279703	A	T	1	0	0	0	0	1	0	0	0	451	159	6	4		4	AGBL1	15	86279703	Missense_Mutation	SNP	A	C3N-00556_TP	2661472	86279703	15711486	383	17737											
SV2B	0	.	GRCh38	chr15	91267584	91267584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgccctgtactgtgtgatGgggccctacagaatgaatac	11	10	11	9	0	0	3	0	2	0	1	0	3	0	3	2	2	4	1	2	2	6	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1149G>T	p.Met383Ile	p.M383I	ENST00000394232	8/13	192	176	16	231	230	1	strelka-varscan-mutect	SV2B,missense_variant,p.Met383Ile,ENST00000394232,NM_001323038.1,NM_001323031.1,NM_001323040.1,NM_001323039.1,NM_001323032.1,NM_001323036.1,NM_001323037.1,NM_014848.4;SV2B,missense_variant,p.Met383Ile,ENST00000330276,;SV2B,missense_variant,p.Met232Ile,ENST00000545111,NM_001167580.1;SV2B,missense_variant,p.Met383Ile,ENST00000557410,;SV2B,downstream_gene_variant,,ENST00000553727,;	T	ENST00000394232	Transcript	missense_variant	1619/11279	1149/2052	383/683	M/I	atG/atT		1		1	SV2B	HGNC	HGNC:16874	protein_coding	YES	CCDS10370.1	ENSP00000377779	Q7L1I2		UPI000006FCF1	NM_001323038.1,NM_001323031.1,NM_001323040.1,NM_001323039.1,NM_001323032.1,NM_001323036.1,NM_001323037.1,NM_014848.4	tolerated(0.19)		8/13		PROSITE_profiles:PS50850,hmmpanther:PTHR23511,hmmpanther:PTHR23511:SF2,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR01299																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	55	91267584	91267584	G	T	1	0	0	0	0	1	0	0	0	15802	1348	47	2		2	SV2B	15	91267584	Missense_Mutation	SNP	G	C3N-00556_TP	4987881	91267584	10723605	384	17738											
RGMA	0	.	GRCh38	chr15	93052113	93052113	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggtctggaagcggtcGgtgaaagtcctgaggtgtgg	7	10	18	6	2	1	2	0	2	1	0	3	3	2	3	1	6	2	1	1	6	2	1	rs375645172		C3N-00556_TP	C3N-00556_NB	G	G																c.549C>T	p.=	p.T183T	ENST00000557301	3/4	188	177	11	188	188	0	strelka-varscan-mutect	RGMA,synonymous_variant,p.=,ENST00000329082,NM_020211.2;RGMA,synonymous_variant,p.=,ENST00000543599,NM_001166287.1;RGMA,synonymous_variant,p.=,ENST00000425933,NM_001166288.1,NM_001166289.1;RGMA,synonymous_variant,p.=,ENST00000542321,NM_001166286.1;RGMA,synonymous_variant,p.=,ENST00000557301,NM_001166283.1;RGMA,synonymous_variant,p.=,ENST00000556658,;RGMA,intron_variant,,ENST00000557420,;RGMA,downstream_gene_variant,,ENST00000555598,;RGMA,downstream_gene_variant,,ENST00000555584,;RGMA,3_prime_UTR_variant,,ENST00000554387,;	A	ENST00000557301	Transcript	synonymous_variant	921/1929	549/1377	183/458	T	acC/acT	rs375645172	1		-1	RGMA	HGNC	HGNC:30308	protein_coding	YES	CCDS53974.1	ENSP00000452126		A0A0A0MTQ4	UPI0001BAC468	NM_001166283.1			3/4		Pfam_domain:PF06535,hmmpanther:PTHR31428,hmmpanther:PTHR31428:SF4																	LOW	1	SNV	2			1										PASS		rs375645172	.												A	2	1	55	93052113	93052113	G	A	1	0	0	0	0	0	0	0	1	13453	1103	39	1		1	RGMA	15	93052113	Silent	SNP	G	C3N-00556_TP	1784529	93052113	8939076	385	17739											
BAIAP3	0	.	GRCh38	chr16	1338545	1338545	+	Missense_Mutation	SNP	C	C	A																															tgctctctgctgtaggtcacCcgccatgtcgaccttgctgg																								novel		C3N-00556_TP	C3N-00556_NB	C	C																c.101C>A	p.Pro34His	p.P34H	ENST00000324385	2/34	110	65	45	71	71	0	strelka-varscan-mutect	BAIAP3,missense_variant,p.Pro34His,ENST00000324385,NM_003933.4;BAIAP3,5_prime_UTR_variant,,ENST00000628027,;BAIAP3,5_prime_UTR_variant,,ENST00000397488,NM_001286464.1;BAIAP3,5_prime_UTR_variant,,ENST00000426824,NM_001199097.1;BAIAP3,5_prime_UTR_variant,,ENST00000421665,NM_001199096.1;BAIAP3,5_prime_UTR_variant,,ENST00000568887,NM_001199099.1;BAIAP3,5_prime_UTR_variant,,ENST00000562208,NM_001199098.1;BAIAP3,non_coding_transcript_exon_variant,,ENST00000567825,;BAIAP3,non_coding_transcript_exon_variant,,ENST00000565665,;BAIAP3,upstream_gene_variant,,ENST00000568198,;	A	ENST00000324385	Transcript	missense_variant	259/4678	101/3564	34/1187	P/H	cCc/cAc		1		1	BAIAP3	HGNC	HGNC:948	protein_coding	YES	CCDS10434.1	ENSP00000324510	O94812		UPI0000071E58	NM_003933.4	deleterious_low_confidence(0.01)		2/34																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	1338545	1338545	C	A	1	0	0	0	0	1	0	0	0	1456	637	22	2		2	BAIAP3	16	1338545	Missense_Mutation	SNP	C	C3N-00556_TP		1338545	88999800	386	17740	379	2									
BAIAP3	0	.	GRCh38	chr16	1338546	1338546	+	Silent	SNP	C	C	A																															gctctctgctgtaggtcaccCgccatgtcgaccttgctgga																								rs751112384		C3N-00556_TP	C3N-00556_NB	C	C																c.102C>A	p.=	p.P34P	ENST00000324385	2/34	112	66	46	72	72	0	strelka-varscan-mutect	BAIAP3,synonymous_variant,p.=,ENST00000324385,NM_003933.4;BAIAP3,5_prime_UTR_variant,,ENST00000628027,;BAIAP3,5_prime_UTR_variant,,ENST00000397488,NM_001286464.1;BAIAP3,5_prime_UTR_variant,,ENST00000426824,NM_001199097.1;BAIAP3,5_prime_UTR_variant,,ENST00000421665,NM_001199096.1;BAIAP3,5_prime_UTR_variant,,ENST00000568887,NM_001199099.1;BAIAP3,5_prime_UTR_variant,,ENST00000562208,NM_001199098.1;BAIAP3,non_coding_transcript_exon_variant,,ENST00000567825,;BAIAP3,non_coding_transcript_exon_variant,,ENST00000565665,;BAIAP3,upstream_gene_variant,,ENST00000568198,;	A	ENST00000324385	Transcript	synonymous_variant	260/4678	102/3564	34/1187	P	ccC/ccA	rs751112384	1		1	BAIAP3	HGNC	HGNC:948	protein_coding	YES	CCDS10434.1	ENSP00000324510	O94812		UPI0000071E58	NM_003933.4			2/34																			LOW	1	SNV	1			1										PASS		rs751112384	.												A	2	1	55	1338546	1338546	C	A	1	0	0	0	0	0	0	0	1	1456	639	23	1		1	BAIAP3	16	1338546	Silent	SNP	C	C3N-00556_TP	1	1338546	88999799	387	17741	379	2									
RAB26	0	.	GRCh38	chr16	2151897	2151897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaccaacaaggcctcctttGacaacatccaggtcagtggc	11	8	8	14	0	2	1	2	1	0	0	4	1	4	1	4	3	2	0	4	3	3	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.457G>A	p.Asp153Asn	p.D153N	ENST00000210187	5/9	312	293	19	254	254	0	strelka-varscan-mutect	RAB26,missense_variant,p.Asp153Asn,ENST00000210187,NM_014353.4;RAB26,missense_variant,p.Asp87Asn,ENST00000541451,NM_001308053.1;TRAF7,upstream_gene_variant,,ENST00000326181,NM_032271.2;TRAF7,upstream_gene_variant,,ENST00000565383,;TRAF7,upstream_gene_variant,,ENST00000567653,;RAB26,upstream_gene_variant,,ENST00000566724,;SNHG19,downstream_gene_variant,,ENST00000563192,;SNORD60,downstream_gene_variant,,ENST00000383903,;snoR1,downstream_gene_variant,,ENST00000628177,;RAB26,3_prime_UTR_variant,,ENST00000565592,;RAB26,non_coding_transcript_exon_variant,,ENST00000564426,;RAB26,non_coding_transcript_exon_variant,,ENST00000562735,;RAB26,non_coding_transcript_exon_variant,,ENST00000561600,;RAB26,non_coding_transcript_exon_variant,,ENST00000567145,;TRAF7,upstream_gene_variant,,ENST00000564067,;TRAF7,upstream_gene_variant,,ENST00000569686,;	A	ENST00000210187	Transcript	missense_variant	617/1675	457/771	153/256	D/N	Gac/Aac		1		1	RAB26	HGNC	HGNC:14259	protein_coding	YES	CCDS10460.1	ENSP00000210187	Q9ULW5		UPI00003584E3	NM_014353.4	tolerated(0.06)		5/9		PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF531,hmmpanther:PTHR24073,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00177,SMART_domains:SM00173,SMART_domains:SM00174,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	2151897	2151897	G	A	1	0	0	0	0	1	0	0	0	13071	1290	45	3		3	RAB26	16	2151897	Missense_Mutation	SNP	G	C3N-00556_TP	813351	2151897	88186448	388	17742											
GRIN2A	0	.	GRCh38	chr16	9938541	9938541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccaaactggaagaaggtaGacgtcggatcctgccagtga	12	7	12	10	2	0	3	0	1	0	2	3	5	2	5	3	3	2	1	3	3	4	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.425C>T	p.Ser142Phe	p.S142F	ENST00000396573	4/14	275	254	21	281	281	0	strelka-varscan-mutect	GRIN2A,missense_variant,p.Ser142Phe,ENST00000396573,NM_000833.4;GRIN2A,missense_variant,p.Ser5Phe,ENST00000396575,;GRIN2A,missense_variant,p.Ser142Phe,ENST00000330684,NM_001134407.2;GRIN2A,missense_variant,p.Ser142Phe,ENST00000562109,NM_001134408.2;GRIN2A,missense_variant,p.Ser5Phe,ENST00000535259,;GRIN2A,missense_variant,p.Ser6Phe,ENST00000637393,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000636273,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000461292,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000568247,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000566670,;GRIN2A,intron_variant,,ENST00000566683,;	A	ENST00000396573	Transcript	missense_variant	735/14450	425/4395	142/1464	S/F	tCt/tTt		1		-1	GRIN2A	HGNC	HGNC:4585	protein_coding	YES	CCDS10539.1	ENSP00000379818	Q12879	Q547U9	UPI000000D7AB	NM_000833.4	deleterious(0.02)		4/14		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF16,Pfam_domain:PF01094,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	9938541	9938541	G	A	1	0	0	0	0	1	0	0	0	6661	942	33	3		3	GRIN2A	16	9938541	Missense_Mutation	SNP	G	C3N-00556_TP	7786644	9938541	80399804	389	17743											
UMOD	0	.	GRCh38	chr16	20348658	20348658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggactggcacgcaggtctCggccatgcgcgcaccgccct	6	5	13	17	5	1	0	0	0	1	0	2	1	1	1	3	4	1	3	3	4	0	0	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.742G>A	p.Glu248Lys	p.E248K	ENST00000396134	4/12	102	89	13	130	130	0	strelka-mutect	UMOD,missense_variant,p.Glu215Lys,ENST00000302509,NM_001008389.2,NM_003361.3;UMOD,missense_variant,p.Glu248Lys,ENST00000396134,NM_001278614.1;UMOD,missense_variant,p.Glu264Lys,ENST00000396138,;UMOD,missense_variant,p.Glu215Lys,ENST00000570689,;UMOD,downstream_gene_variant,,ENST00000574195,;UMOD,downstream_gene_variant,,ENST00000571174,;UMOD,downstream_gene_variant,,ENST00000577168,;UMOD,downstream_gene_variant,,ENST00000570972,;UMOD,downstream_gene_variant,,ENST00000573567,;UMOD,downstream_gene_variant,,ENST00000576546,;UMOD,downstream_gene_variant,,ENST00000570757,;UMOD,downstream_gene_variant,,ENST00000576688,;	T	ENST00000396134	Transcript	missense_variant	866/2408	742/2022	248/673	E/K	Gag/Aag		1		-1	UMOD	HGNC	HGNC:12559	protein_coding	YES	CCDS61876.1	ENSP00000379438	P07911		UPI000059D336	NM_001278614.1	deleterious(0)		4/12		hmmpanther:PTHR24044:SF263,hmmpanther:PTHR24044																	MODERATE	1	SNV	2			1										PASS		rs1490168938	.												T	3	4	55	20348658	20348658	C	T	1	0	0	0	0	1	0	0	0	17503	893	31	1		1	UMOD	16	20348658	Missense_Mutation	SNP	C	C3N-00556_TP	10410117	20348658	69989687	390	17744											
RBBP6	0	.	GRCh38	chr16	24570460	24570460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtcagacgaaaagtgactgGaactgaaggatccagctcaa	15	6	12	8	1	2	3	2	2	0	1	3	6	3	5	1	3	2	1	1	3	5	0			C3N-00556_TP	C3N-00556_NB	G	G																c.3770G>A	p.Gly1257Glu	p.G1257E	ENST00000319715	17/18	104	86	18	112	112	0	strelka-varscan-mutect	RBBP6,missense_variant,p.Gly1257Glu,ENST00000319715,NM_006910.4;RBBP6,missense_variant,p.Gly1223Glu,ENST00000348022,NM_018703.3;RBBP6,intron_variant,,ENST00000381039,;RBBP6,downstream_gene_variant,,ENST00000564314,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;	A	ENST00000319715	Transcript	missense_variant	4202/6229	3770/5379	1257/1792	G/E	gGa/gAa	COSM4059488	1		1	RBBP6	HGNC	HGNC:9889	protein_coding	YES	CCDS10621.1	ENSP00000317872	Q7Z6E9		UPI00001A96B8	NM_006910.4	deleterious_low_confidence(0)		17/18		hmmpanther:PTHR15439:SF3,hmmpanther:PTHR15439											1						MODERATE	1	SNV	1		1	1										PASS		rs1450712090	.												A	3	1	55	24570460	24570460	G	A	1	0	0	0	0	1	0	0	0	13264	1174	41	3		3	RBBP6	16	24570460	Missense_Mutation	SNP	G	C3N-00556_TP	4221802	24570460	65767885	391	17745											
RBBP6	0	.	GRCh38	chr16	24571426	24571426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaagaggctagaacgtcaGataaacatgattccactcgt	15	8	8	10	2	1	4	1	1	0	3	3	4	2	4	2	1	2	1	2	1	5	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.4360G>A	p.Asp1454Asn	p.D1454N	ENST00000319715	18/18	160	139	21	203	203	0	strelka-varscan-mutect	RBBP6,missense_variant,p.Asp1454Asn,ENST00000319715,NM_006910.4;RBBP6,missense_variant,p.Asp1420Asn,ENST00000348022,NM_018703.3;RBBP6,missense_variant,p.Asp614Asn,ENST00000381039,;RBBP6,downstream_gene_variant,,ENST00000564314,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;	A	ENST00000319715	Transcript	missense_variant	4792/6229	4360/5379	1454/1792	D/N	Gat/Aat		1		1	RBBP6	HGNC	HGNC:9889	protein_coding	YES	CCDS10621.1	ENSP00000317872	Q7Z6E9		UPI00001A96B8	NM_006910.4	deleterious_low_confidence(0)		18/18		hmmpanther:PTHR15439:SF3,hmmpanther:PTHR15439																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	24571426	24571426	G	A	1	0	0	0	0	1	0	0	0	13264	942	33	3		3	RBBP6	16	24571426	Missense_Mutation	SNP	G	C3N-00556_TP	966	24571426	65766919	392	17746											
ZKSCAN2	0	.	GRCh38	chr16	25243932	25243932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgtaggttcctggggttCaacctcaataccccctcttt	6	13	8	14	0	3	0	2	0	1	0	4	0	4	0	5	3	2	3	5	3	4	5			C3N-00556_TP	C3N-00556_NB	C	C																c.1834G>A	p.Glu612Lys	p.E612K	ENST00000328086	6/7	277	253	24	249	249	0	strelka-varscan-mutect	ZKSCAN2,missense_variant,p.Glu612Lys,ENST00000328086,NM_001012981.4;CTD-2547G23.2,downstream_gene_variant,,ENST00000569456,;ZKSCAN2,3_prime_UTR_variant,,ENST00000569150,;ZKSCAN2,downstream_gene_variant,,ENST00000565590,;	T	ENST00000328086	Transcript	missense_variant	2638/7523	1834/2904	612/967	E/K	Gaa/Aaa	COSM324423	1		-1	ZKSCAN2	HGNC	HGNC:25677	protein_coding	YES	CCDS32410.1	ENSP00000331626	Q63HK3		UPI0000229E7F	NM_001012981.4	tolerated(0.08)		6/7													1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	55	25243932	25243932	C	T	1	0	0	0	0	1	0	0	0	18265	835	29	3		3	ZKSCAN2	16	25243932	Missense_Mutation	SNP	C	C3N-00556_TP	672506	25243932	65094413	393	17747											
ZNF764	0	.	GRCh38	chr16	30557842	30557842	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagctggcttgttgcctccGattcctagggaagaagaacg	10	9	13	9	2	0	3	0	0	0	3	2	5	2	4	3	2	3	3	3	2	4	4	rs770932668		C3N-00556_TP	C3N-00556_NB	G	G																c.201C>T	p.=	p.I67I	ENST00000252797	2/3	135	126	9	148	148	0	strelka-varscan-mutect	ZNF764,synonymous_variant,p.=,ENST00000395091,NM_001172679.1;ZNF764,synonymous_variant,p.=,ENST00000252797,NM_033410.3;AC002310.13,intron_variant,,ENST00000568114,;ZNF764,non_coding_transcript_exon_variant,,ENST00000568333,;	A	ENST00000252797	Transcript	synonymous_variant	282/2738	201/1227	67/408	I	atC/atT	rs770932668,COSM265142	1		-1	ZNF764	HGNC	HGNC:28200	protein_coding	YES	CCDS10683.1	ENSP00000252797	Q96H86	A0A024QZB2	UPI000013CD86	NM_033410.3			2/3		Superfamily_domains:0044637,PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF131,SMART_domains:SM00349											0,1						LOW	1	SNV	1		0,1	1										PASS		rs770932668	.												A	2	1	55	30557842	30557842	G	A	1	0	0	0	0	0	0	0	1	18721	1072	37	1		1	ZNF764	16	30557842	Silent	SNP	G	C3N-00556_TP	5313910	30557842	59780503	394	17748											
SALL1	0	.	GRCh38	chr16	51137222	51137222	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccaggggagcattgggctCtgagttctggagcctctcca	6	9	15	11	0	3	1	0	1	3	0	4	3	3	3	3	5	2	3	3	5	0	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.3865G>C	p.Glu1289Gln	p.E1289Q	ENST00000251020	3/3	139	128	11	207	207	0	strelka-varscan-mutect	SALL1,missense_variant,p.Glu1192Gln,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Glu1289Gln,ENST00000251020,NM_002968.2;SALL1,3_prime_UTR_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000570206,;	G	ENST00000251020	Transcript	missense_variant	3899/5146	3865/3975	1289/1324	E/Q	Gag/Cag		1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	tolerated(0.11)		3/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	51137222	51137222	C	G	1	0	0	0	0	1	0	0	0	14069	922	32	4		4	SALL1	16	51137222	Missense_Mutation	SNP	C	C3N-00556_TP	20579380	51137222	39201123	395	17749											
IRX5	0	.	GRCh38	chr16	54933355	54933355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggtgcctccgggtcccGgcgggccctcggttatccat	3	8	15	15	5	0	0	0	0	0	0	4	1	3	0	5	5	1	1	5	5	1	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.934G>T	p.Gly312Cys	p.G312C	ENST00000394636	3/3	121	93	28	121	121	0	strelka-varscan-mutect	IRX5,missense_variant,p.Gly312Cys,ENST00000394636,NM_005853.5;IRX5,missense_variant,p.Gly311Cys,ENST00000320990,NM_001252197.1;IRX5,intron_variant,,ENST00000620085,;IRX5,intron_variant,,ENST00000560154,;CRNDE,upstream_gene_variant,,ENST00000560208,;CRNDE,upstream_gene_variant,,ENST00000559598,;CRNDE,upstream_gene_variant,,ENST00000502066,;CRNDE,upstream_gene_variant,,ENST00000501177,;CRNDE,upstream_gene_variant,,ENST00000558952,;CRNDE,upstream_gene_variant,,ENST00000559432,;CTD-3032H12.1,downstream_gene_variant,,ENST00000559802,;CTD-3032H12.1,downstream_gene_variant,,ENST00000558156,;CRNDE,upstream_gene_variant,,ENST00000557792,;CRNDE,upstream_gene_variant,,ENST00000560912,;CTD-3032H12.2,upstream_gene_variant,,ENST00000560487,;IRX5,non_coding_transcript_exon_variant,,ENST00000558597,;	T	ENST00000394636	Transcript	missense_variant	1271/2401	934/1452	312/483	G/C	Ggc/Tgc		1		1	IRX5	HGNC	HGNC:14361	protein_coding	YES	CCDS10751.1	ENSP00000378132	P78411		UPI00001FF1CD	NM_005853.5	deleterious(0.03)		3/3		hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF17,Low_complexity_(Seg):seg																	MODERATE	1	SNV	3			1										PASS		rs1242231944	.												T	3	4	55	54933355	54933355	G	T	1	0	0	0	0	1	0	0	0	7755	1116	39	1		1	IRX5	16	54933355	Missense_Mutation	SNP	G	C3N-00556_TP	3796133	54933355	35404990	396	17750											
CMTR2	0	.	GRCh38	chr16	71283992	71283992	+	Frame_Shift_Del	DEL	C	C	-																															caagaaagtacaggcaaaatCataacatctcctgtatgaag																								novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1929delG	p.Met643IlefsTer16	p.M643Ifs*16	ENST00000338099	3/3	81	58	23	135	134	1	sindel-varindel	CMTR2,frameshift_variant,p.Met643IlefsTer16,ENST00000338099,;CMTR2,frameshift_variant,p.Met643IlefsTer16,ENST00000434935,NM_001324377.1,NM_018348.5,NM_001099642.1;CMTR2,downstream_gene_variant,,ENST00000565850,;CMTR2,downstream_gene_variant,,ENST00000568910,;CMTR2,downstream_gene_variant,,ENST00000563876,;CMTR2,downstream_gene_variant,,ENST00000564183,;CMTR2,downstream_gene_variant,,ENST00000567610,;CMTR2,downstream_gene_variant,,ENST00000564690,;	-	ENST00000338099	Transcript	frameshift_variant	2266/4869	1929/2313	643/770	M/X	atG/at		1		-1	CMTR2	HGNC	HGNC:25635	protein_coding	YES	CCDS10898.1	ENSP00000337512	Q8IYT2		UPI000006EA8B				3/3		hmmpanther:PTHR16121,hmmpanther:PTHR16121:SF2																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	55	71283992	71283992	C	-	1	0	1	0	1	0	0	0	0	3367	826	29	0		0	CMTR2	16	71283992	Frame_Shift_Del	DEL	C	C3N-00556_TP	16350637	71283992	19054353	397	17751	380	3									
CMTR2	0	.	GRCh38	chr16	71283994	71283994	+	Missense_Mutation	SNP	T	T	G																															agaaagtacaggcaaaatcaTaacatctcctgtatgaagct																								novel		C3N-00556_TP	C3N-00556_NB	T	T																c.1927A>C	p.Met643Leu	p.M643L	ENST00000338099	3/3	84	62	22	129	128	1	strelka-mutect	CMTR2,missense_variant,p.Met643Leu,ENST00000338099,;CMTR2,missense_variant,p.Met643Leu,ENST00000434935,NM_001324377.1,NM_018348.5,NM_001099642.1;CMTR2,downstream_gene_variant,,ENST00000565850,;CMTR2,downstream_gene_variant,,ENST00000568910,;CMTR2,downstream_gene_variant,,ENST00000563876,;CMTR2,downstream_gene_variant,,ENST00000564183,;CMTR2,downstream_gene_variant,,ENST00000567610,;CMTR2,downstream_gene_variant,,ENST00000564690,;	G	ENST00000338099	Transcript	missense_variant	2264/4869	1927/2313	643/770	M/L	Atg/Ctg		1		-1	CMTR2	HGNC	HGNC:25635	protein_coding	YES	CCDS10898.1	ENSP00000337512	Q8IYT2		UPI000006EA8B		tolerated(1)		3/3		hmmpanther:PTHR16121,hmmpanther:PTHR16121:SF2																	MODERATE	1	SNV	1			1										PASS		rs1339848602	.												G	3	3	55	71283994	71283994	T	G	1	0	0	0	0	1	0	0	0	3367	1406	49	5		5	CMTR2	16	71283994	Missense_Mutation	SNP	T	C3N-00556_TP	2	71283994	19054351	398	17752	380	3									
CMTR2	0	.	GRCh38	chr16	71283995	71283995	+	Silent	SNP	A	A	T																															gaaagtacaggcaaaatcatAacatctcctgtatgaagctc																								rs750024387		C3N-00556_TP	C3N-00556_NB	A	A																c.1926T>A	p.=	p.V642V	ENST00000338099	3/3	84	62	22	130	130	0	strelka-varscan-mutect	CMTR2,synonymous_variant,p.=,ENST00000338099,;CMTR2,synonymous_variant,p.=,ENST00000434935,NM_001324377.1,NM_018348.5,NM_001099642.1;CMTR2,downstream_gene_variant,,ENST00000565850,;CMTR2,downstream_gene_variant,,ENST00000568910,;CMTR2,downstream_gene_variant,,ENST00000563876,;CMTR2,downstream_gene_variant,,ENST00000564183,;CMTR2,downstream_gene_variant,,ENST00000567610,;CMTR2,downstream_gene_variant,,ENST00000564690,;	T	ENST00000338099	Transcript	synonymous_variant	2263/4869	1926/2313	642/770	V	gtT/gtA	rs750024387	1		-1	CMTR2	HGNC	HGNC:25635	protein_coding	YES	CCDS10898.1	ENSP00000337512	Q8IYT2		UPI000006EA8B				3/3		hmmpanther:PTHR16121,hmmpanther:PTHR16121:SF2																	LOW	1	SNV	1			1										PASS		rs750024387	.												T	2	4	55	71283995	71283995	A	T	1	0	0	0	0	0	0	0	1	3367	349	13	4		4	CMTR2	16	71283995	Silent	SNP	A	C3N-00556_TP	1	71283995	19054350	399	17753	380	3									
PMFBP1	0	.	GRCh38	chr16	72164912	72164912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacttctctgtctctctccCccgcctaggcagccagaaaa	8	10	6	17	1	4	1	1	0	3	1	7	1	4	1	4	1	1	1	4	1	3	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.17G>T	p.Gly6Val	p.G6V	ENST00000237353	3/21	32	22	10	45	45	0	strelka-varscan-mutect	PMFBP1,missense_variant,p.Gly6Val,ENST00000537465,;PMFBP1,missense_variant,p.Gly6Val,ENST00000237353,NM_031293.2;PMFBP1,missense_variant,p.Gly6Val,ENST00000535461,;PMFBP1,missense_variant,p.Gly6Val,ENST00000539172,;PMFBP1,missense_variant,p.Gly6Val,ENST00000536211,;PMFBP1,missense_variant,p.Gly6Val,ENST00000540440,;PMFBP1,5_prime_UTR_variant,,ENST00000355636,NM_001160213.1;PMFBP1,non_coding_transcript_exon_variant,,ENST00000543746,;PMFBP1,missense_variant,p.Gly6Val,ENST00000379073,;	A	ENST00000237353	Transcript	missense_variant	279/3527	17/3024	6/1007	G/V	gGg/gTg		1		-1	PMFBP1	HGNC	HGNC:17728	protein_coding	YES	CCDS32483.1	ENSP00000237353	Q8TBY8		UPI0000141554	NM_031293.2	deleterious_low_confidence(0.05)		3/21		hmmpanther:PTHR18881,hmmpanther:PTHR18881:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	72164912	72164912	C	A	1	0	0	0	0	1	0	0	0	12241	637	22	2		2	PMFBP1	16	72164912	Missense_Mutation	SNP	C	C3N-00556_TP	880917	72164912	18173433	400	17754											
ZFHX3	0	.	GRCh38	chr16	72787673	72787673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccccacagagcgcgctctCgcacgccaggcagtggtacg	7	5	12	17	5	1	1	0	0	1	1	3	1	2	1	3	2	2	4	3	2	1	1			C3N-00556_TP	C3N-00556_NB	C	C																c.10603G>A	p.Glu3535Lys	p.E3535K	ENST00000268489	10/10	301	276	25	250	249	1	strelka-varscan-mutect	ZFHX3,missense_variant,p.Glu3535Lys,ENST00000268489,NM_006885.3;ZFHX3,missense_variant,p.Glu2621Lys,ENST00000397992,NM_001164766.1;RP5-991G20.1,non_coding_transcript_exon_variant,,ENST00000563328,;	T	ENST00000268489	Transcript	missense_variant	11276/16064	10603/11112	3535/3703	E/K	Gag/Aag	COSM3672321	1		-1	ZFHX3	HGNC	HGNC:777	protein_coding	YES	CCDS10908.1	ENSP00000268489	Q15911		UPI00001AE937	NM_006885.3	deleterious_low_confidence(0.01)		10/10		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF84,PROSITE_patterns:PS00028,SMART_domains:SM00451,SMART_domains:SM00355											1						MODERATE	1	SNV	1		1	1										PASS		rs1457944892	.												T	3	4	55	72787673	72787673	C	T	1	0	0	0	0	1	0	0	0	18212	893	31	1		1	ZFHX3	16	72787673	Missense_Mutation	SNP	C	C3N-00556_TP	622761	72787673	17550672	401	17755											
ZNF469	0	.	GRCh38	chr16	88433317	88433317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgtggaaggagggaaGgtggcctgtggccccgccca	7	5	18	11	1	0	0	0	0	0	0	0	3	0	3	4	7	0	1	4	7	2	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.5763G>T	p.Lys1921Asn	p.K1921N	ENST00000437464	2/2	195	139	56	229	229	0	strelka-varscan-mutect	ZNF469,missense_variant,p.Lys1949Asn,ENST00000565624,;ZNF469,missense_variant,p.Lys1921Asn,ENST00000437464,NM_001127464.2;	T	ENST00000437464	Transcript	missense_variant	5763/13203	5763/11778	1921/3925	K/N	aaG/aaT		1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2	tolerated(0.81)		2/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	55	88433317	88433317	G	T	1	0	0	0	0	1	0	0	0	18500	991	35	2		2	ZNF469	16	88433317	Missense_Mutation	SNP	G	C3N-00556_TP	15645644	88433317	1905028	402	17756											
WDR81	0	.	GRCh38	chr17	1726555	1726555	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccaccgagccctgctGgagagccgcgaggtatcccg	6	5	14	16	4	0	1	0	0	0	1	1	4	1	1	5	2	4	3	5	2	1	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1596G>T	p.=	p.L532L	ENST00000409644	1/10	139	122	17	152	152	0	strelka-varscan-mutect	WDR81,synonymous_variant,p.=,ENST00000409644,NM_001163809.1;WDR81,intron_variant,,ENST00000309182,NM_152348.3;WDR81,intron_variant,,ENST00000419248,NM_001163811.1;WDR81,intron_variant,,ENST00000437219,NM_001163673.1;WDR81,intron_variant,,ENST00000446363,;WDR81,intron_variant,,ENST00000418841,;WDR81,intron_variant,,ENST00000455636,;WDR81,intron_variant,,ENST00000468539,;WDR81,upstream_gene_variant,,ENST00000575206,;RP11-961A15.1,intron_variant,,ENST00000576540,;WDR81,intron_variant,,ENST00000492901,;WDR81,upstream_gene_variant,,ENST00000464528,;WDR81,upstream_gene_variant,,ENST00000479966,;WDR81,upstream_gene_variant,,ENST00000474958,;WDR81,upstream_gene_variant,,ENST00000495411,;	T	ENST00000409644	Transcript	synonymous_variant	1596/6733	1596/5826	532/1941	L	ctG/ctT		1		1	WDR81	HGNC	HGNC:26600	protein_coding	YES	CCDS54062.1	ENSP00000386609	Q562E7		UPI0001881A85	NM_001163809.1			1/10		PROSITE_profiles:PS50197,Pfam_domain:PF02138,Gene3D:1t77A02,SMART_domains:SM01026,Superfamily_domains:SSF81837																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	1726555	1726555	G	T	1	0	0	0	0	0	0	0	1	17885	1335	47	2		2	WDR81	17	1726555	Silent	SNP	G	C3N-00556_TP		1726555	81530886	403	17757											
CYB5D2	0	.	GRCh38	chr17	4149982	4149982	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcagccgctgagatgctGacacttcacaattggctttc	8	12	9	12	1	2	2	2	2	0	1	3	3	2	2	1	1	2	3	1	1	1	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.342G>A	p.=	p.L114L	ENST00000301391	2/4	206	186	20	232	231	1	strelka-varscan-mutect	CYB5D2,synonymous_variant,p.=,ENST00000301391,NM_144611.3;CYB5D2,synonymous_variant,p.=,ENST00000575251,NM_001254755.1;CYB5D2,synonymous_variant,p.=,ENST00000577075,NM_001254756.1;CYB5D2,synonymous_variant,p.=,ENST00000573984,;CYB5D2,non_coding_transcript_exon_variant,,ENST00000575411,;	A	ENST00000301391	Transcript	synonymous_variant	842/1910	342/795	114/264	L	ctG/ctA		1		1	CYB5D2	HGNC	HGNC:28471	protein_coding	YES	CCDS11044.1	ENSP00000301391	Q8WUJ1		UPI000006E3B0	NM_144611.3			2/4		Gene3D:3.10.120.10,Pfam_domain:PF00173,hmmpanther:PTHR10281,hmmpanther:PTHR10281:SF4,SMART_domains:SM01117,Superfamily_domains:SSF55856																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	4149982	4149982	G	A	1	0	0	0	0	0	0	0	1	3929	1277	45	3		3	CYB5D2	17	4149982	Silent	SNP	G	C3N-00556_TP	2423427	4149982	79107459	404	17758											
DHX33	0	.	GRCh38	chr17	5444364	5444364	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtggaagaggacagaCgacgggtggatggccactgg	10	6	18	7	2	0	2	0	0	0	2	0	6	0	5	1	6	1	1	1	6	1	1	rs775681379		C3N-00556_TP	C3N-00556_NB	C	C																c.1965G>T	p.=	p.S655S	ENST00000225296	12/12	354	296	58	352	352	0	strelka-varscan-mutect	DHX33,synonymous_variant,p.=,ENST00000225296,NM_020162.3;DHX33,synonymous_variant,p.=,ENST00000572490,NM_001199699.1;DHX33,synonymous_variant,p.=,ENST00000433302,;C1QBP,intron_variant,,ENST00000570805,;DHX33,3_prime_UTR_variant,,ENST00000574023,;DHX33,non_coding_transcript_exon_variant,,ENST00000575153,;	A	ENST00000225296	Transcript	synonymous_variant	2166/5618	1965/2124	655/707	S	tcG/tcT	rs775681379	1		-1	DHX33	HGNC	HGNC:16718	protein_coding	YES	CCDS11072.1	ENSP00000225296	Q9H6R0		UPI000013C861	NM_020162.3			12/12		hmmpanther:PTHR18934,Pfam_domain:PF07717																	LOW	1	SNV	1			1										PASS		rs775681379	.												A	2	1	55	5444364	5444364	C	A	1	0	0	0	0	0	0	0	1	4310	523	19	1		1	DHX33	17	5444364	Silent	SNP	C	C3N-00556_TP	1294382	5444364	77813077	405	17759											
NLRP1	0	.	GRCh38	chr17	5558643	5558643	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaaagatgttctccatctCtctctccccctcatcactta	8	14	4	15	0	5	2	2	1	3	1	9	2	6	2	3	0	0	1	3	0	2	2	rs200362116		C3N-00556_TP	C3N-00556_NB	C	C																c.2053G>C	p.Glu685Gln	p.E685Q	ENST00000617618	5/18	275	226	49	325	325	0	strelka-varscan-mutect	NLRP1,missense_variant,p.Glu685Gln,ENST00000262467,NM_001033053.2;NLRP1,missense_variant,p.Glu685Gln,ENST00000269280,NM_014922.4;NLRP1,missense_variant,p.Glu685Gln,ENST00000617618,NM_033004.3;NLRP1,missense_variant,p.Glu685Gln,ENST00000619223,NM_033006.3;NLRP1,missense_variant,p.Glu685Gln,ENST00000345221,;NLRP1,missense_variant,p.Glu685Gln,ENST00000613500,;NLRP1,missense_variant,p.Glu685Gln,ENST00000572272,;NLRP1,missense_variant,p.Glu685Gln,ENST00000354411,;NLRP1,missense_variant,p.Glu685Gln,ENST00000577119,NM_033007.3;NLRP1,non_coding_transcript_exon_variant,,ENST00000571307,;NLRP1,missense_variant,p.Glu685Gln,ENST00000571451,;NLRP1,missense_variant,p.Glu685Gln,ENST00000544378,;	G	ENST00000617618	Transcript	missense_variant	2419/4788	2053/4422	685/1473	E/Q	Gag/Cag	rs200362116	1		-1	NLRP1	HGNC	HGNC:14374	protein_coding	YES	CCDS42246.1	ENSP00000478516	Q9C000		UPI0000038309	NM_033004.3	tolerated(0.09)		5/18		hmmpanther:PTHR24106:SF13,hmmpanther:PTHR24106																	MODERATE	1	SNV	5			1										PASS		rs200362116	.												G	3	3	55	5558643	5558643	C	G	1	0	0	0	0	1	0	0	0	10508	922	32	4		4	NLRP1	17	5558643	Missense_Mutation	SNP	C	C3N-00556_TP	114279	5558643	77698798	406	17760											
CHD3	0	.	GRCh38	chr17	7894534	7894534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctgtgtgacacctgccctCgtgcctaccacctcgtctgc	4	12	8	17	2	2	1	0	1	2	0	4	1	2	1	5	0	4	0	5	0	1	2			C3N-00556_TP	C3N-00556_NB	C	C																c.1372C>T	p.Arg458Cys	p.R458C	ENST00000380358	8/40	118	106	12	109	109	0	strelka-varscan-mutect	CHD3,missense_variant,p.Arg458Cys,ENST00000380358,NM_001005271.2;CHD3,missense_variant,p.Arg399Cys,ENST00000330494,NM_001005273.2;CHD3,missense_variant,p.Arg399Cys,ENST00000358181,NM_005852.3;CHD3,missense_variant,p.Arg270Cys,ENST00000452447,;CHD3,downstream_gene_variant,,ENST00000571249,;CHD3,downstream_gene_variant,,ENST00000570758,;CHD3,downstream_gene_variant,,ENST00000574022,;CHD3,non_coding_transcript_exon_variant,,ENST00000572579,;CHD3,upstream_gene_variant,,ENST00000479080,;	T	ENST00000380358	Transcript	missense_variant	1373/7356	1372/6180	458/2059	R/C	Cgt/Tgt	COSM3523247	1		1	CHD3	HGNC	HGNC:1918	protein_coding	YES	CCDS32553.2	ENSP00000369716	Q12873		UPI00004DDA7C	NM_001005271.2	deleterious(0.01)		8/40		Gene3D:3.30.40.10,Pfam_domain:PF00628,PROSITE_patterns:PS01359,PROSITE_profiles:PS50016,SMART_domains:SM00249,Superfamily_domains:SSF57903											1						MODERATE	1	SNV	2		1	1										PASS		rs1178138055	.												T	3	4	55	7894534	7894534	C	T	1	0	0	0	0	1	0	0	0	3085	884	31	1		1	CHD3	17	7894534	Missense_Mutation	SNP	C	C3N-00556_TP	2335891	7894534	75362907	407	17761											
PFAS	0	.	GRCh38	chr17	8257869	8257869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaattttgcccggcccctgGaggttgccattgaagccagt	7	10	13	11	1	0	1	0	1	0	0	0	3	0	3	5	4	3	1	5	4	2	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1138G>A	p.Glu380Lys	p.E380K	ENST00000314666	10/28	277	263	14	289	289	0	strelka-varscan-mutect	PFAS,missense_variant,p.Glu380Lys,ENST00000314666,NM_012393.2;PFAS,downstream_gene_variant,,ENST00000585183,;PFAS,downstream_gene_variant,,ENST00000584044,;PFAS,downstream_gene_variant,,ENST00000581242,;PFAS,downstream_gene_variant,,ENST00000625942,;PFAS,upstream_gene_variant,,ENST00000585319,;PFAS,3_prime_UTR_variant,,ENST00000580356,;	A	ENST00000314666	Transcript	missense_variant	1271/5371	1138/4017	380/1338	E/K	Gag/Aag		1		1	PFAS	HGNC	HGNC:8863	protein_coding	YES	CCDS11136.1	ENSP00000313490	O15067		UPI00001A95E5	NM_012393.2	tolerated(0.39)		10/28		HAMAP:MF_00419,hmmpanther:PTHR10099,hmmpanther:PTHR10099:SF1,Gene3D:3.30.1330.10,TIGRFAM_domain:TIGR01735,Superfamily_domains:SSF55326																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	8257869	8257869	G	A	1	0	0	0	0	1	0	0	0	11844	1175	41	3		3	PFAS	17	8257869	Missense_Mutation	SNP	G	C3N-00556_TP	363335	8257869	74999572	408	17762											
MYH8	0	.	GRCh38	chr17	10400479	10400479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctccagcttctgtttgaCccgctgcaagttgtcaatct	6	15	7	13	1	4	1	1	1	3	0	5	1	4	1	2	0	2	5	2	0	2	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.3646G>T	p.Val1216Phe	p.V1216F	ENST00000403437	27/40	306	240	66	399	398	1	strelka-varscan-mutect	MYH8,missense_variant,p.Val1216Phe,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000403437	Transcript	missense_variant	3741/6041	3646/5814	1216/1937	V/F	Gtc/Ttc		1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2	deleterious(0)		27/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	55	10400479	10400479	C	A	1	0	0	0	0	1	0	0	0	10041	507	18	2		2	MYH8	17	10400479	Missense_Mutation	SNP	C	C3N-00556_TP	2142610	10400479	72856962	409	17763											
SLC5A10	0	.	GRCh38	chr17	19020158	19020158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactcatttcttacagattGagaaccttacctggtggacc	10	13	7	11	0	3	2	2	1	1	2	3	4	3	3	3	2	3	0	3	2	3	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1678G>A	p.Glu560Lys	p.E560K	ENST00000395647	14/15	166	152	14	191	191	0	strelka-varscan-mutect	SLC5A10,missense_variant,p.Glu514Lys,ENST00000317977,NM_001282417.1;SLC5A10,missense_variant,p.Glu560Lys,ENST00000395647,NM_152351.4;SLC5A10,missense_variant,p.Glu544Lys,ENST00000395645,NM_001042450.2;SLC5A10,missense_variant,p.Glu508Lys,ENST00000417251,NM_001270649.1;SLC5A10,missense_variant,p.Glu517Lys,ENST00000395643,NM_001270648.1;GRAP,downstream_gene_variant,,ENST00000284154,NM_006613.3;GRAP,downstream_gene_variant,,ENST00000573099,;GRAP,downstream_gene_variant,,ENST00000395635,;SLC5A10,downstream_gene_variant,,ENST00000584658,;GRAP,downstream_gene_variant,,ENST00000583020,;	A	ENST00000395647	Transcript	missense_variant	1719/2140	1678/1839	560/612	E/K	Gag/Aag		1		1	SLC5A10	HGNC	HGNC:23155	protein_coding	YES	CCDS11201.2	ENSP00000379008	A0PJK1		UPI00001401D2	NM_152351.4	tolerated(0.93)		14/15		hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF128																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	55	19020158	19020158	G	A	1	0	0	0	0	1	0	0	0	14945	1304	45	3		3	SLC5A10	17	19020158	Missense_Mutation	SNP	G	C3N-00556_TP	8619679	19020158	64237283	410	17764											
KCNJ18	0	.	GRCh38	chr17	21703980	21703980	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggacggagaccaggacggCcgaagccgggatggcctcag	9	2	18	12	5	1	1	1	0	0	1	1	6	1	4	4	6	1	0	4	6	1	0	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1194C>A	p.=	p.G398G	ENST00000567955	3/3	80	61	19	112	112	0	varscan-mutect	KCNJ18,synonymous_variant,p.=,ENST00000567955,NM_001194958.2;	A	ENST00000567955	Transcript	synonymous_variant	1564/2196	1194/1302	398/433	G	ggC/ggA		1		1	KCNJ18	HGNC	HGNC:39080	protein_coding	YES	CCDS74015.1	ENSP00000457807	B7U540		UPI0002064ECF	NM_001194958.2			3/3		Prints_domain:PR01325,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	21703980	21703980	C	A	1	0	0	0	0	0	0	0	1	7967	726	26	2		2	KCNJ18	17	21703980	Silent	SNP	C	C3N-00556_TP	2683822	21703980	61553461	411	17765											
NEK8	0	.	GRCh38	chr17	28737381	28737381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accggtacagccctgagcttCgccagctggtcctgagtcta	7	9	11	14	2	1	2	0	2	1	0	3	2	2	2	4	2	4	3	4	2	2	3			C3N-00556_TP	C3N-00556_NB	C	C																c.694C>T	p.Arg232Cys	p.R232C	ENST00000268766	5/15	510	465	45	417	416	1	strelka-varscan-mutect	NEK8,missense_variant,p.Arg232Cys,ENST00000268766,NM_178170.2;NEK8,missense_variant,p.Arg58Cys,ENST00000592510,;NEK8,downstream_gene_variant,,ENST00000579060,;NEK8,downstream_gene_variant,,ENST00000579671,;AC010761.6,intron_variant,,ENST00000584779,;AC010761.6,downstream_gene_variant,,ENST00000582536,;NEK8,downstream_gene_variant,,ENST00000593261,;NEK8,missense_variant,p.Arg232Cys,ENST00000543014,;NEK8,downstream_gene_variant,,ENST00000584342,;NEK8,downstream_gene_variant,,ENST00000581000,;	T	ENST00000268766	Transcript	missense_variant	728/3581	694/2079	232/692	R/C	Cgc/Tgc	COSM229300	1		1	NEK8	HGNC	HGNC:13387	protein_coding	YES	CCDS32597.1	ENSP00000268766	Q86SG6		UPI000004B820	NM_178170.2	tolerated(0.07)		5/15		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24362,hmmpanther:PTHR24362:SF0,Low_complexity_(Seg):seg,SMART_domains:SM00220,Superfamily_domains:SSF56112											1						MODERATE	1	SNV	1		1	1										PASS		rs1199087140	.												T	3	4	55	28737381	28737381	C	T	1	0	0	0	0	1	0	0	0	10358	884	31	1		1	NEK8	17	28737381	Missense_Mutation	SNP	C	C3N-00556_TP	7033401	28737381	54520060	412	17766											
SLC6A4	0	.	GRCh38	chr17	30211395	30211395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcatgttggctatcgcttCtgcatacgtgatgaagagga	9	12	13	7	2	1	3	0	2	1	1	2	4	1	4	0	3	2	5	0	3	3	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1234G>C	p.Glu412Gln	p.E412Q	ENST00000261707	10/15	201	181	20	229	229	0	strelka-varscan-mutect	SLC6A4,missense_variant,p.Glu412Gln,ENST00000261707,NM_001045.5;SLC6A4,missense_variant,p.Glu412Gln,ENST00000401766,;SLC6A4,missense_variant,p.Glu412Gln,ENST00000394821,;RP11-354P11.4,downstream_gene_variant,,ENST00000581633,;SLC6A4,upstream_gene_variant,,ENST00000579221,;	G	ENST00000261707	Transcript	missense_variant	1810/6604	1234/1893	412/630	E/Q	Gaa/Caa		1		-1	SLC6A4	HGNC	HGNC:11050	protein_coding	YES	CCDS11256.1	ENSP00000261707	P31645		UPI0000135493	NM_001045.5	deleterious(0.03)		10/15		PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF105,Pfam_domain:PF00209,Superfamily_domains:0053687																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	30211395	30211395	C	G	1	0	0	0	0	1	0	0	0	14969	922	32	4		4	SLC6A4	17	30211395	Missense_Mutation	SNP	C	C3N-00556_TP	1474014	30211395	53046046	413	17767											
NF1	0	.	GRCh38	chr17	31327795	31327795	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgtccctgggacactgctCaatatcgcattacttaattt	10	14	7	10	1	1	0	1	0	0	0	3	2	2	1	1	1	2	2	1	1	4	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.5565C>G	p.=	p.L1855L	ENST00000358273	38/58	132	122	10	192	192	0	strelka-varscan-mutect	NF1,synonymous_variant,p.=,ENST00000358273,NM_001042492.2;NF1,synonymous_variant,p.=,ENST00000356175,NM_000267.3;NF1,synonymous_variant,p.=,ENST00000456735,;NF1,non_coding_transcript_exon_variant,,ENST00000581113,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000479536,;	G	ENST00000358273	Transcript	synonymous_variant	5948/12425	5565/8520	1855/2839	L	ctC/ctG		1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2			38/58		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF90,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	55	31327795	31327795	C	G	1	0	0	0	0	0	0	0	1	10393	813	29	4		4	NF1	17	31327795	Silent	SNP	C	C3N-00556_TP	1116400	31327795	51929646	414	17768											
AP2B1	0	.	GRCh38	chr17	35624440	35624440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attatctgaaatcagtgagtCtcacccaaacagcaacttac	15	10	5	11	0	3	2	2	2	2	0	4	2	3	2	1	0	4	1	1	0	5	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.569C>G	p.Ser190Cys	p.S190C	ENST00000618940	6/22	287	266	21	283	283	0	strelka-varscan-mutect	AP2B1,missense_variant,p.Ser190Cys,ENST00000621914,NM_001282.2;AP2B1,missense_variant,p.Ser190Cys,ENST00000618940,;AP2B1,missense_variant,p.Ser152Cys,ENST00000616681,;AP2B1,missense_variant,p.Ser190Cys,ENST00000610402,NM_001030006.1;AP2B1,missense_variant,p.Ser190Cys,ENST00000616784,;AP2B1,missense_variant,p.Ser190Cys,ENST00000614600,;AP2B1,missense_variant,p.Ser190Cys,ENST00000612116,;AP2B1,missense_variant,p.Ser190Cys,ENST00000612035,;AP2B1,missense_variant,p.Ser152Cys,ENST00000621668,;AP2B1,non_coding_transcript_exon_variant,,ENST00000619183,;AP2B1,non_coding_transcript_exon_variant,,ENST00000591561,;AP2B1,3_prime_UTR_variant,,ENST00000620039,;AP2B1,upstream_gene_variant,,ENST00000588116,;	G	ENST00000618940	Transcript	missense_variant	741/3415	569/2856	190/951	S/C	tCt/tGt		1		1	AP2B1	HGNC	HGNC:563	protein_coding	YES	CCDS32621.1	ENSP00000482835	P63010	A0A140VJE8	UPI000006DD97		deleterious(0)		6/22		hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF9,Gene3D:1.25.10.10,PIRSF_domain:PIRSF002291,Pfam_domain:PF01602,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	35624440	35624440	C	G	1	0	0	0	0	1	0	0	0	857	913	32	4		4	AP2B1	17	35624440	Missense_Mutation	SNP	C	C3N-00556_TP	4296645	35624440	47633001	415	17769											
TAF15	0	.	GRCh38	chr17	35824094	35824094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagatgaccgtcgtgatgtGagtaggtatggagaagataa	13	10	15	3	2	0	6	0	3	0	3	1	7	0	6	1	2	0	3	1	2	5	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.501G>A	p.=	p.V167V	ENST00000605844	7/16	266	244	22	290	290	0	strelka-varscan-mutect	TAF15,synonymous_variant,p.=,ENST00000605844,NM_139215.2;TAF15,synonymous_variant,p.=,ENST00000604841,NM_003487.3;TAF15,synonymous_variant,p.=,ENST00000603777,;TAF15,synonymous_variant,p.=,ENST00000604879,;TAF15,downstream_gene_variant,,ENST00000603427,;AC015849.19,intron_variant,,ENST00000603981,;AC015849.13,downstream_gene_variant,,ENST00000603678,;TAF15,downstream_gene_variant,,ENST00000604360,;TAF15,synonymous_variant,p.=,ENST00000603393,;TAF15,non_coding_transcript_exon_variant,,ENST00000605649,;TAF15,non_coding_transcript_exon_variant,,ENST00000605197,;TAF15,intron_variant,,ENST00000603067,;	A	ENST00000605844	Transcript	synonymous_variant	616/2191	501/1779	167/592	V	gtG/gtA		1		1	TAF15	HGNC	HGNC:11547	protein_coding	YES	CCDS32623.1	ENSP00000474096	Q92804		UPI000013317D	NM_139215.2			7/16		hmmpanther:PTHR23238,hmmpanther:PTHR23238:SF25																	LOW	1	SNV	1			1										PASS		rs945006859	.												A	2	1	55	35824094	35824094	G	A	1	0	0	0	0	0	0	0	1	15914	1277	45	3		3	TAF15	17	35824094	Silent	SNP	G	C3N-00556_TP	199654	35824094	47433347	416	17770											
STARD3	0	.	GRCh38	chr17	39653568	39653568	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggagctgacccgagacttgGagcgcagcctgcctgccgtg	6	6	16	13	3	0	2	0	1	0	1	0	5	0	4	4	2	5	2	4	2	0	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.37G>C	p.Glu13Gln	p.E13Q	ENST00000336308	2/15	237	219	18	188	188	0	strelka-varscan-mutect	STARD3,missense_variant,p.Glu13Gln,ENST00000336308,NM_006804.3;STARD3,missense_variant,p.Glu13Gln,ENST00000580611,;STARD3,missense_variant,p.Glu13Gln,ENST00000394250,NM_001165938.1;STARD3,missense_variant,p.Glu13Gln,ENST00000544210,NM_001165937.1;STARD3,missense_variant,p.Glu13Gln,ENST00000443521,;STARD3,missense_variant,p.Glu13Gln,ENST00000581894,;STARD3,missense_variant,p.Glu13Gln,ENST00000583419,;STARD3,missense_variant,p.Glu13Gln,ENST00000577248,;STARD3,missense_variant,p.Glu13Gln,ENST00000579479,;STARD3,missense_variant,p.Glu13Gln,ENST00000580331,;STARD3,missense_variant,p.Glu13Gln,ENST00000583718,;STARD3,non_coding_transcript_exon_variant,,ENST00000582874,;STARD3,non_coding_transcript_exon_variant,,ENST00000460894,;STARD3,non_coding_transcript_exon_variant,,ENST00000585214,;STARD3,non_coding_transcript_exon_variant,,ENST00000578254,;STARD3,intron_variant,,ENST00000578232,;STARD3,missense_variant,p.Glu13Gln,ENST00000578577,;STARD3,non_coding_transcript_exon_variant,,ENST00000488876,;STARD3,non_coding_transcript_exon_variant,,ENST00000583582,;STARD3,non_coding_transcript_exon_variant,,ENST00000484773,;STARD3,non_coding_transcript_exon_variant,,ENST00000580551,;STARD3,upstream_gene_variant,,ENST00000481171,;STARD3,upstream_gene_variant,,ENST00000584850,;STARD3,upstream_gene_variant,,ENST00000585269,;	C	ENST00000336308	Transcript	missense_variant	255/2132	37/1338	13/445	E/Q	Gag/Cag		1		1	STARD3	HGNC	HGNC:17579	protein_coding	YES	CCDS11341.1	ENSP00000337446	Q14849		UPI000013CE10	NM_006804.3	tolerated_low_confidence(0.13)		2/15		hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF51																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	39653568	39653568	G	C	1	0	0	0	0	1	0	0	0	15632	1175	41	4		4	STARD3	17	39653568	Missense_Mutation	SNP	G	C3N-00556_TP	3829474	39653568	43603873	417	17771											
GSDMA	0	.	GRCh38	chr17	39965807	39965807	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcccttctgcctggtgctGaggaagaggaagagcacgct	9	8	13	11	1	1	3	0	1	1	2	2	5	2	5	2	3	3	3	2	3	2	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.120G>C	p.=	p.L40L	ENST00000301659	2/12	365	345	20	335	335	0	strelka-varscan	GSDMA,synonymous_variant,p.=,ENST00000301659,NM_178171.4;GSDMA,synonymous_variant,p.=,ENST00000635792,;GSDMA,synonymous_variant,p.=,ENST00000577447,;	C	ENST00000301659	Transcript	synonymous_variant	238/2164	120/1338	40/445	L	ctG/ctC		1		1	GSDMA	HGNC	HGNC:13311	protein_coding	YES	CCDS45669.1	ENSP00000301659	Q96QA5		UPI0000140D2A	NM_178171.4			2/12		hmmpanther:PTHR16399:SF18,hmmpanther:PTHR16399,Pfam_domain:PF04598																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	55	39965807	39965807	G	C	1	0	0	0	0	0	0	0	1	6698	1277	45	4		4	GSDMA	17	39965807	Silent	SNP	G	C3N-00556_TP	312239	39965807	43291634	418	17772											
CASC3	0	.	GRCh38	chr17	40163977	40163977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaggaggtgccccctcctCctgaaggactgattccagca	9	7	11	14	0	0	3	0	2	0	1	3	5	3	5	5	3	2	1	5	3	1	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1282C>T	p.Pro428Ser	p.P428S	ENST00000264645	7/14	271	255	16	301	301	0	strelka-varscan-mutect	CASC3,missense_variant,p.Pro428Ser,ENST00000264645,NM_007359.4;CASC3,downstream_gene_variant,,ENST00000584997,;CASC3,downstream_gene_variant,,ENST00000638146,;CASC3,missense_variant,p.Pro23Ser,ENST00000577605,;CASC3,synonymous_variant,p.=,ENST00000474190,;CASC3,non_coding_transcript_exon_variant,,ENST00000418132,;CASC3,upstream_gene_variant,,ENST00000394114,;CASC3,downstream_gene_variant,,ENST00000581849,;CASC3,upstream_gene_variant,,ENST00000583902,;CASC3,upstream_gene_variant,,ENST00000579238,;	T	ENST00000264645	Transcript	missense_variant	1508/4116	1282/2112	428/703	P/S	Cct/Tct		1		1	CASC3	HGNC	HGNC:17040	protein_coding	YES	CCDS11362.1	ENSP00000264645	O15234		UPI000000DAAA	NM_007359.4	tolerated_low_confidence(0.31)		7/14		Low_complexity_(Seg):seg,hmmpanther:PTHR13434																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	40163977	40163977	C	T	1	0	0	0	0	1	0	0	0	2361	855	30	3		3	CASC3	17	40163977	Missense_Mutation	SNP	C	C3N-00556_TP	198170	40163977	43093464	419	17773											
KRT27	0	.	GRCh38	chr17	40779620	40779620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagatctgctgctgcagcGaggcgctctggaacggcagg	8	6	16	11	3	2	1	0	0	2	1	2	4	2	2	0	4	5	5	0	4	1	0	rs754672693		C3N-00556_TP	C3N-00556_NB	G	G																c.854C>T	p.Ser285Leu	p.S285L	ENST00000301656	5/8	109	103	6	115	115	0	strelka-varscan	KRT27,missense_variant,p.Ser285Leu,ENST00000301656,NM_181537.3;KRT27,upstream_gene_variant,,ENST00000540723,;	A	ENST00000301656	Transcript	missense_variant	895/1612	854/1380	285/459	S/L	tCg/tTg	rs754672693	1		-1	KRT27	HGNC	HGNC:30841	protein_coding	YES	CCDS11375.1	ENSP00000301656	Q7Z3Y8		UPI0000200C91	NM_181537.3	tolerated(0.15)		5/8		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF120,Pfam_domain:PF00038,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	40779620	40779620	G	A	1	0	0	0	0	1	0	0	0	8346	1059	37	1		1	KRT27	17	40779620	Missense_Mutation	SNP	G	C3N-00556_TP	615643	40779620	42477821	420	17774											
TMEM99	0	.	GRCh38	chr17	40834723	40834723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcatttttcttcctggctCtcccttgagttattttcctt	4	20	6	11	0	2	1	0	1	2	0	5	2	4	1	3	1	1	3	3	1	1	8	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.207C>T	p.=	p.L69L	ENST00000622451	3/3	105	98	7	171	171	0	strelka-varscan-mutect	TMEM99,synonymous_variant,p.=,ENST00000622451,NM_001195386.1;TMEM99,synonymous_variant,p.=,ENST00000301665,NM_001195387.1,NM_145274.3;TMEM99,synonymous_variant,p.=,ENST00000436612,;	T	ENST00000622451	Transcript	synonymous_variant	522/2073	207/777	69/258	L	ctC/ctT		1		1	TMEM99	HGNC	HGNC:28305	protein_coding	YES	CCDS42319.1	ENSP00000482364	Q8N816	A0A024R1X7	UPI0000E5924C	NM_001195386.1			3/3		Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		rs1237518912	.												T	2	4	55	40834723	40834723	C	T	1	0	0	0	0	0	0	0	1	16701	900	32	3		3	TMEM99	17	40834723	Silent	SNP	C	C3N-00556_TP	55103	40834723	42422718	421	17775											
FKBP10	0	.	GRCh38	chr17	41813169	41813169	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccccctggaagatgtggtCatcgagaggtaccacatccc	9	7	12	13	1	1	2	1	0	0	2	3	4	2	3	4	4	1	1	4	4	2	1	rs782808931		C3N-00556_TP	C3N-00556_NB	C	C																c.135C>T	p.=	p.V45V	ENST00000321562	1/10	112	90	22	102	102	0	strelka-varscan-mutect	FKBP10,synonymous_variant,p.=,ENST00000321562,NM_021939.3;FKBP10,synonymous_variant,p.=,ENST00000585922,;FKBP10,intron_variant,,ENST00000585664,;FKBP10,intron_variant,,ENST00000429461,;P3H4,upstream_gene_variant,,ENST00000355468,;P3H4,upstream_gene_variant,,ENST00000393928,NM_006455.2;P3H4,upstream_gene_variant,,ENST00000592026,;P3H4,upstream_gene_variant,,ENST00000590496,;FKBP10,synonymous_variant,p.=,ENST00000489591,;P3H4,upstream_gene_variant,,ENST00000467164,;P3H4,upstream_gene_variant,,ENST00000587455,;	T	ENST00000321562	Transcript	synonymous_variant	239/2662	135/1749	45/582	V	gtC/gtT	rs782808931	1		1	FKBP10	HGNC	HGNC:18169	protein_coding	YES	CCDS11409.1	ENSP00000317232	Q96AY3	A0A024R1W3	UPI000012A80A	NM_021939.3			1/10		hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF247,Superfamily_domains:SSF54534																	LOW	1	SNV	1			1										PASS		rs782808931	.												T	2	4	55	41813169	41813169	C	T	1	0	0	0	0	0	0	0	1	5765	813	29	3		3	FKBP10	17	41813169	Silent	SNP	C	C3N-00556_TP	978446	41813169	41444272	422	17776											
NMT1	0	.	GRCh38	chr17	45061435	45061435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgcagcgattgcgagaatGaggaggacaacagctacaac	15	5	12	9	2	0	2	0	1	0	1	0	6	0	4	0	2	7	2	0	2	4	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.106G>A	p.Glu36Lys	p.E36K	ENST00000592782	2/13	172	161	11	147	147	0	strelka-varscan	NMT1,missense_variant,p.Glu36Lys,ENST00000592782,;NMT1,missense_variant,p.Glu36Lys,ENST00000258960,NM_021079.4;DCAKD,upstream_gene_variant,,ENST00000310604,NM_024819.5,NM_001288654.1;DCAKD,upstream_gene_variant,,ENST00000342350,;NMT1,upstream_gene_variant,,ENST00000592654,;NMT1,non_coding_transcript_exon_variant,,ENST00000590114,;NMT1,non_coding_transcript_exon_variant,,ENST00000588975,;NMT1,missense_variant,p.Glu36Lys,ENST00000543908,;NMT1,missense_variant,p.Glu35Lys,ENST00000585561,;	A	ENST00000592782	Transcript	missense_variant	237/4999	106/1491	36/496	E/K	Gag/Aag		1		1	NMT1	HGNC	HGNC:7857	protein_coding	YES	CCDS11494.1	ENSP00000468424	P30419		UPI0000130275		tolerated_low_confidence(0.07)		2/13		hmmpanther:PTHR11377,hmmpanther:PTHR11377:SF7																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	55	45061435	45061435	G	A	1	0	0	0	0	1	0	0	0	10544	1291	45	3		3	NMT1	17	45061435	Missense_Mutation	SNP	G	C3N-00556_TP	3248266	45061435	38196006	423	17777											
WNT9B	0	.	GRCh38	chr17	46875141	46875141	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacgcggtgtcctctgcCgccctcacccacaccctggc	4	8	9	20	3	2	0	1	0	1	0	3	0	3	0	5	2	2	1	5	2	1	1	rs368158766		C3N-00556_TP	C3N-00556_NB	C	C																c.375C>T	p.=	p.A125A	ENST00000290015	3/4	210	196	14	180	180	0	strelka-varscan-mutect	WNT9B,synonymous_variant,p.=,ENST00000393461,NM_001320458.1;WNT9B,synonymous_variant,p.=,ENST00000290015,NM_003396.1;WNT9B,synonymous_variant,p.=,ENST00000575372,;	T	ENST00000290015	Transcript	synonymous_variant	428/1376	375/1074	125/357	A	gcC/gcT	rs368158766,COSM3755605,COSM3755606	1		1	WNT9B	HGNC	HGNC:12779	protein_coding	YES	CCDS11506.1	ENSP00000290015	O14905		UPI000013DFB5	NM_003396.1			3/4		Pfam_domain:PF00110,Prints_domain:PR01349,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF84,SMART_domains:SM00097											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs368158766	.												T	2	4	55	46875141	46875141	C	T	1	0	0	0	0	0	0	0	1	17955	639	23	1		1	WNT9B	17	46875141	Silent	SNP	C	C3N-00556_TP	1813706	46875141	36382300	424	17778											
VEZF1	0	.	GRCh38	chr17	57979179	57979179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccttgctttaacagcttcttCccacagtctcagtgtttcta	7	16	5	13	0	3	0	1	0	3	0	5	0	4	0	2	0	3	3	2	0	2	7	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1111G>A	p.Glu371Lys	p.E371K	ENST00000581208	5/6	150	140	10	148	148	0	varscan-mutect	VEZF1,missense_variant,p.Glu190Lys,ENST00000258963,;VEZF1,missense_variant,p.Glu362Lys,ENST00000584396,;VEZF1,missense_variant,p.Glu371Lys,ENST00000581208,NM_007146.2;VEZF1,downstream_gene_variant,,ENST00000583932,;	T	ENST00000581208	Transcript	missense_variant	1152/2321	1111/1566	371/521	E/K	Gaa/Aaa		1		-1	VEZF1	HGNC	HGNC:12949	protein_coding	YES	CCDS32687.1	ENSP00000462337	Q14119		UPI000013D01B	NM_007146.2	tolerated_low_confidence(0.46)		5/6		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	57979179	57979179	C	T	1	0	0	0	0	1	0	0	0	17701	864	30	3		3	VEZF1	17	57979179	Missense_Mutation	SNP	C	C3N-00556_TP	11104038	57979179	25278262	425	17779											
VEZF1	0	.	GRCh38	chr17	57979197	57979197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcccacagtctcagtgtttCtacttgcttccctggccagc	5	14	7	15	0	2	0	1	0	2	0	5	0	4	0	3	1	3	2	3	1	1	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1093G>C	p.Glu365Gln	p.E365Q	ENST00000581208	5/6	201	188	13	179	179	0	strelka-varscan-mutect	VEZF1,missense_variant,p.Glu184Gln,ENST00000258963,;VEZF1,missense_variant,p.Glu356Gln,ENST00000584396,;VEZF1,missense_variant,p.Glu365Gln,ENST00000581208,NM_007146.2;VEZF1,downstream_gene_variant,,ENST00000583932,;	G	ENST00000581208	Transcript	missense_variant	1134/2321	1093/1566	365/521	E/Q	Gaa/Caa		1		-1	VEZF1	HGNC	HGNC:12949	protein_coding	YES	CCDS32687.1	ENSP00000462337	Q14119		UPI000013D01B	NM_007146.2	tolerated_low_confidence(0.48)		5/6																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	57979197	57979197	C	G	1	0	0	0	0	1	0	0	0	17701	922	32	4		4	VEZF1	17	57979197	Missense_Mutation	SNP	C	C3N-00556_TP	18	57979197	25278244	426	17780											
TEX14	0	.	GRCh38	chr17	58602532	58602532	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acatcagcttctaaataattCcccgagactacggctttttt	11	14	5	11	2	2	1	1	0	1	1	3	2	3	1	2	1	2	2	2	1	4	8	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1413G>A	p.=	p.G471G	ENST00000240361	12/33	135	125	10	165	165	0	strelka-varscan-mutect	TEX14,synonymous_variant,p.=,ENST00000389934,NM_198393.3;TEX14,synonymous_variant,p.=,ENST00000240361,NM_001201457.1;TEX14,synonymous_variant,p.=,ENST00000349033,NM_031272.4;TEX14,3_prime_UTR_variant,,ENST00000582740,;	T	ENST00000240361	Transcript	synonymous_variant	1499/4911	1413/4494	471/1497	G	ggG/ggA		1		-1	TEX14	HGNC	HGNC:11737	protein_coding	YES	CCDS56042.1	ENSP00000240361	Q8IWB6		UPI0000DAC9CA	NM_001201457.1			12/33		PROSITE_profiles:PS50011,hmmpanther:PTHR23060,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	58602532	58602532	C	T	1	0	0	0	0	0	0	0	1	16200	842	30	3		3	TEX14	17	58602532	Silent	SNP	C	C3N-00556_TP	623335	58602532	24654909	427	17781											
TEX14	0	.	GRCh38	chr17	58605111	58605111	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcactcgagtcaggtccctCtgtacacctctgtcctcgct	5	11	9	16	2	3	0	1	0	2	0	7	1	5	0	3	2	1	3	3	2	1	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1221G>C	p.Gln407His	p.Q407H	ENST00000240361	11/33	163	126	37	172	172	0	strelka-varscan-mutect	TEX14,missense_variant,p.Gln401His,ENST00000389934,NM_198393.3;TEX14,missense_variant,p.Gln407His,ENST00000240361,NM_001201457.1;TEX14,missense_variant,p.Gln401His,ENST00000349033,NM_031272.4;TEX14,3_prime_UTR_variant,,ENST00000582740,;	G	ENST00000240361	Transcript	missense_variant	1307/4911	1221/4494	407/1497	Q/H	caG/caC		1		-1	TEX14	HGNC	HGNC:11737	protein_coding	YES	CCDS56042.1	ENSP00000240361	Q8IWB6		UPI0000DAC9CA	NM_001201457.1	tolerated(1)		11/33		PROSITE_profiles:PS50011,hmmpanther:PTHR23060,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	58605111	58605111	C	G	1	0	0	0	0	1	0	0	0	16200	912	32	4		4	TEX14	17	58605111	Missense_Mutation	SNP	C	C3N-00556_TP	2579	58605111	24652330	428	17782											
RPS6KB1	0	.	GRCh38	chr17	59934177	59934177	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttcattgtaggtcatgtGaaactaacagactttggact	11	15	8	7	0	3	2	2	1	1	1	3	3	3	3	0	2	2	1	0	2	3	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.696G>A	p.=	p.V232V	ENST00000225577	8/15	113	94	19	151	151	0	strelka-varscan-mutect	RPS6KB1,synonymous_variant,p.=,ENST00000393021,NM_001272044.1;RPS6KB1,synonymous_variant,p.=,ENST00000225577,NM_001272060.1,NM_003161.3;RPS6KB1,synonymous_variant,p.=,ENST00000406116,NM_001272043.1;RPS6KB1,synonymous_variant,p.=,ENST00000443572,NM_001272042.1;RPS6KB1,3_prime_UTR_variant,,ENST00000472940,;RPS6KB1,non_coding_transcript_exon_variant,,ENST00000590928,;RPS6KB1,non_coding_transcript_exon_variant,,ENST00000587622,;RPS6KB1,downstream_gene_variant,,ENST00000489824,;	A	ENST00000225577	Transcript	synonymous_variant	717/5375	696/1578	232/525	V	gtG/gtA		1		1	RPS6KB1	HGNC	HGNC:10436	protein_coding	YES	CCDS11621.1	ENSP00000225577	P23443		UPI000013C873	NM_001272060.1,NM_003161.3			8/15		PROSITE_profiles:PS50011,hmmpanther:PTHR24351:SF85,hmmpanther:PTHR24351,PIRSF_domain:PIRSF000605,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	59934177	59934177	G	A	1	0	0	0	0	0	0	0	1	13911	1277	45	3		3	RPS6KB1	17	59934177	Silent	SNP	G	C3N-00556_TP	1329066	59934177	23323264	429	17783											
TLK2	0	.	GRCh38	chr17	62600696	62600696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggaaatgatctggacttCtacctgaaacagcacaaatt	15	9	9	8	0	2	2	0	2	2	0	2	5	2	4	1	2	3	1	1	2	4	3			C3N-00556_TP	C3N-00556_NB	C	C																c.1662C>G	p.Phe554Leu	p.F554L	ENST00000326270	19/23	127	117	10	138	138	0	varscan-mutect	TLK2,missense_variant,p.Phe383Leu,ENST00000582809,;TLK2,missense_variant,p.Phe554Leu,ENST00000326270,NM_001284333.1;TLK2,missense_variant,p.Phe532Leu,ENST00000346027,NM_006852.3;TLK2,missense_variant,p.Phe500Leu,ENST00000343388,NM_001284363.1;TLK2,missense_variant,p.Phe468Leu,ENST00000581041,;TLK2,intron_variant,,ENST00000578931,;TLK2,non_coding_transcript_exon_variant,,ENST00000582660,;	G	ENST00000326270	Transcript	missense_variant	1930/3512	1662/2319	554/772	F/L	ttC/ttG	COSM3520530,COSM3520531,COSM3520532	1		1	TLK2	HGNC	HGNC:11842	protein_coding	YES	CCDS62283.1	ENSP00000316512	Q86UE8		UPI00001B6B0E	NM_001284333.1	deleterious(0.01)		19/23		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF20,SMART_domains:SM00220,Superfamily_domains:SSF56112											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												G	3	3	55	62600696	62600696	C	G	1	0	0	0	0	1	0	0	0	16390	912	32	4		4	TLK2	17	62600696	Missense_Mutation	SNP	C	C3N-00556_TP	2666519	62600696	20656745	430	17784											
DDX42	0	.	GRCh38	chr17	63813334	63813334	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcacaggaagagcgggtgaGaaaggtgtggcctataccct	11	6	15	9	2	0	2	0	1	0	2	0	4	0	3	2	4	2	1	2	4	4	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1782G>C	p.Glu594Asp	p.E594D	ENST00000578681	16/19	148	135	13	140	140	0	strelka-varscan-mutect	DDX42,missense_variant,p.Glu594Asp,ENST00000578681,NM_007372.3;DDX42,missense_variant,p.Glu594Asp,ENST00000583590,;DDX42,missense_variant,p.Glu594Asp,ENST00000389924,NM_203499.2;DDX42,missense_variant,p.Glu475Asp,ENST00000457800,;DDX42,missense_variant,p.Glu475Asp,ENST00000359353,;DDX42,upstream_gene_variant,,ENST00000582985,;DDX42,non_coding_transcript_exon_variant,,ENST00000584010,;DDX42,non_coding_transcript_exon_variant,,ENST00000578593,;DDX42,non_coding_transcript_exon_variant,,ENST00000584951,;DDX42,upstream_gene_variant,,ENST00000581767,;DDX42,downstream_gene_variant,,ENST00000577940,;DDX42,upstream_gene_variant,,ENST00000579539,;DDX42,downstream_gene_variant,,ENST00000581477,;	C	ENST00000578681	Transcript	missense_variant	2383/4337	1782/2817	594/938	E/D	gaG/gaC		1		1	DDX42	HGNC	HGNC:18676	protein_coding	YES	CCDS32704.1	ENSP00000464050	Q86XP3		UPI000017DA3D	NM_007372.3	tolerated(0.34)		16/19		PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF125,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	63813334	63813334	G	C	1	0	0	0	0	1	0	0	0	4165	933	33	4		4	DDX42	17	63813334	Missense_Mutation	SNP	G	C3N-00556_TP	1212638	63813334	19444107	431	17785											
USP36	0	.	GRCh38	chr17	78814529	78814529	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacatatacggacgtatgttGaggaattccggatagcctac	12	10	11	8	3	0	1	0	1	0	0	1	5	1	4	2	3	3	2	2	3	6	7	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1047C>T	p.=	p.L349L	ENST00000542802	11/21	121	110	11	147	147	0	strelka-varscan-mutect	USP36,synonymous_variant,p.=,ENST00000542802,NM_001321291.1;USP36,synonymous_variant,p.=,ENST00000312010,NM_025090.3;USP36,synonymous_variant,p.=,ENST00000449938,;USP36,synonymous_variant,p.=,ENST00000586066,;USP36,non_coding_transcript_exon_variant,,ENST00000588467,;USP36,synonymous_variant,p.=,ENST00000589225,;USP36,synonymous_variant,p.=,ENST00000588086,;USP36,non_coding_transcript_exon_variant,,ENST00000590312,;USP36,downstream_gene_variant,,ENST00000589254,;	A	ENST00000542802	Transcript	synonymous_variant	1491/6063	1047/3372	349/1123	L	ctC/ctT		1		-1	USP36	HGNC	HGNC:20062	protein_coding	YES	CCDS32755.1	ENSP00000441214	Q9P275	A0A024R8V6	UPI00000398BB	NM_001321291.1			11/21		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF409,Superfamily_domains:SSF54001																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	78814529	78814529	G	A	1	0	0	0	0	0	0	0	1	17609	1277	45	3		3	USP36	17	78814529	Silent	SNP	G	C3N-00556_TP	15001195	78814529	4442912	432	17786											
CANT1	0	.	GRCh38	chr17	78993714	78993715	+	Frame_Shift_Ins	INS	-	-	G																															tcggtgttggggatgaacttINSgaaggacgagaagccgtgag																								novel		C3N-00556_TP	C3N-00556_NB	-	-																c.1041dupC	p.Lys348GlnfsTer103	p.K348Qfs*103	ENST00000302345	4/4	229	183	46	264	264	0	sindel-varindel-pindel	CANT1,frameshift_variant,p.Lys348GlnfsTer103,ENST00000302345,NM_138793.3,NM_001159773.1;CANT1,frameshift_variant,p.Lys348GlnfsTer103,ENST00000620915,;CANT1,frameshift_variant,p.Lys348GlnfsTer103,ENST00000392446,;CANT1,frameshift_variant,p.Lys348GlnfsTer?,ENST00000591773,NM_001159772.1;CANT1,downstream_gene_variant,,ENST00000588611,;CANT1,downstream_gene_variant,,ENST00000588075,;CANT1,downstream_gene_variant,,ENST00000586916,;CANT1,downstream_gene_variant,,ENST00000590370,;CANT1,downstream_gene_variant,,ENST00000591625,;CANT1,downstream_gene_variant,,ENST00000592033,;CANT1,downstream_gene_variant,,ENST00000591811,;CANT1,downstream_gene_variant,,ENST00000591732,;CANT1,downstream_gene_variant,,ENST00000592887,;CANT1,downstream_gene_variant,,ENST00000587242,;CANT1,intron_variant,,ENST00000592228,;CANT1,downstream_gene_variant,,ENST00000588096,;	G	ENST00000302345	Transcript	frameshift_variant	1536-1537/3534	1041-1042/1206	347-348/401	-/X	-/C		1		-1	CANT1	HGNC	HGNC:19721	protein_coding	YES	CCDS11760.1	ENSP00000307674	Q8WVQ1	A0A024R8U8	UPI00000734F8	NM_138793.3,NM_001159773.1			4/4		Superfamily_domains:0049295,Pfam_domain:PF06079,hmmpanther:PTHR13023																	HIGH	1	insertion	2			1										PASS		.	.												G	7	5	55	78993714	78993714	-	G	1	0	1	1	0	0	0	0	0	2310	1821	63	0		0	CANT1	17	78993714	Frame_Shift_Ins	INS	-	C3N-00556_TP	179185	78993714	4263727	433	17787											
RAC3	0	.	GRCh38	chr17	82033474	82033474	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcaccactgcccccacaCgcccatcctcctggtgggca	6	5	10	20	2	0	0	0	0	0	0	2	0	2	0	6	3	1	2	6	3	0	0	rs765128571		C3N-00556_TP	C3N-00556_NB	C	C																c.323C>A	p.Thr108Lys	p.T108K	ENST00000306897	5/6	76	61	15	74	73	1	strelka-varscan-mutect	RAC3,missense_variant,p.Thr108Lys,ENST00000306897,NM_001316307.1,NM_005052.2;RAC3,missense_variant,p.Thr64Lys,ENST00000580965,;RAC3,missense_variant,p.Thr64Lys,ENST00000584341,;LRRC45,downstream_gene_variant,,ENST00000306688,NM_144999.3;DCXR,downstream_gene_variant,,ENST00000306869,NM_001195218.1,NM_016286.3;DCXR,downstream_gene_variant,,ENST00000581584,;DCXR,downstream_gene_variant,,ENST00000582900,;DCXR,downstream_gene_variant,,ENST00000577532,;DCXR,downstream_gene_variant,,ENST00000579155,;DCXR,downstream_gene_variant,,ENST00000577712,;DCXR,downstream_gene_variant,,ENST00000579004,;RP13-650J16.1,upstream_gene_variant,,ENST00000584705,;RP13-650J16.1,upstream_gene_variant,,ENST00000582558,;RP11-1182P23.5,downstream_gene_variant,,ENST00000623540,;DCXR,downstream_gene_variant,,ENST00000584318,;DCXR,downstream_gene_variant,,ENST00000577996,;RAC3,non_coding_transcript_exon_variant,,ENST00000585014,;LRRC45,downstream_gene_variant,,ENST00000583302,;DCXR,downstream_gene_variant,,ENST00000579334,;LRRC45,downstream_gene_variant,,ENST00000581227,;DCXR,downstream_gene_variant,,ENST00000580750,;DCXR,downstream_gene_variant,,ENST00000578885,;DCXR,downstream_gene_variant,,ENST00000585085,;DCXR,downstream_gene_variant,,ENST00000580320,;DCXR,downstream_gene_variant,,ENST00000578273,;DCXR,downstream_gene_variant,,ENST00000579842,;DCXR,downstream_gene_variant,,ENST00000582074,;DCXR,downstream_gene_variant,,ENST00000582613,;DCXR,downstream_gene_variant,,ENST00000577286,;LRRC45,downstream_gene_variant,,ENST00000582083,;DCXR,downstream_gene_variant,,ENST00000585164,;DCXR,downstream_gene_variant,,ENST00000579821,;	A	ENST00000306897	Transcript	missense_variant	461/1090	323/579	108/192	T/K	aCg/aAg	rs765128571	1		1	RAC3	HGNC	HGNC:9803	protein_coding	YES	CCDS11798.1	ENSP00000304283	P60763		UPI00000041DA	NM_001316307.1,NM_005052.2	deleterious_low_confidence(0.01)		5/6		PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF169,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449																	MODERATE	1	SNV	1			1										PASS		rs765128571	.												A	3	1	55	82033474	82033474	C	A	1	0	0	0	0	1	0	0	0	13135	536	19	1		1	RAC3	17	82033474	Missense_Mutation	SNP	C	C3N-00556_TP	3039760	82033474	1223967	434	17788											
SMCHD1	0	.	GRCh38	chr18	2740732	2740732	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacagatcagtacggaaatCagattcaagcattttcacca	15	11	6	9	1	4	2	4	0	0	2	4	3	4	3	1	1	3	2	1	1	4	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.3544C>T	p.Gln1182Ter	p.Q1182*	ENST00000320876	28/48	156	126	30	161	161	0	strelka-varscan-mutect	SMCHD1,stop_gained,p.Gln1182Ter,ENST00000320876,NM_015295.2;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,stop_gained,p.Gln653Ter,ENST00000577880,;SMCHD1,3_prime_UTR_variant,,ENST00000584897,;SMCHD1,downstream_gene_variant,,ENST00000581631,;	T	ENST00000320876	Transcript	stop_gained	3882/8821	3544/6018	1182/2005	Q/*	Cag/Tag		1		1	SMCHD1	HGNC	HGNC:29090	protein_coding	YES	CCDS45822.1	ENSP00000326603	A6NHR9		UPI00001D7AAD	NM_015295.2			28/48		hmmpanther:PTHR22640,hmmpanther:PTHR22640:SF2																	HIGH		SNV	5			1										PASS		.	.												T	4	4	55	2740732	2740732	C	T	1	0	0	0	0	0	1	0	0	15081	827	29	3		3	SMCHD1	18	2740732	Nonsense_Mutation	SNP	C	C3N-00556_TP		2740732	77632553	435	17789											
MYL12B	0	.	GRCh38	chr18	3272995	3272995	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgaccagtcacagattcagGagttcaaagaggccttcaac	13	9	9	10	0	4	3	4	1	0	2	4	4	4	4	2	2	1	1	2	2	2	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.97G>C	p.Glu33Gln	p.E33Q	ENST00000581193	2/4	147	137	10	157	157	0	varscan-mutect	MYL12B,missense_variant,p.Glu33Gln,ENST00000581193,NM_001144945.1;MYL12B,missense_variant,p.Glu33Gln,ENST00000237500,NM_033546.3;MYL12B,missense_variant,p.Glu33Gln,ENST00000584539,;MYL12B,missense_variant,p.Glu33Gln,ENST00000400175,NM_001144944.1;	C	ENST00000581193	Transcript	missense_variant	480/1249	97/519	33/172	E/Q	Gag/Cag		1		1	MYL12B	HGNC	HGNC:29827	protein_coding	YES	CCDS11831.1	ENSP00000463559	O14950		UPI0000024704	NM_001144945.1	deleterious(0)		2/4		Gene3D:1.10.238.10,Pfam_domain:PF13405,PROSITE_profiles:PS50222,hmmpanther:PTHR23049,SMART_domains:SM00054,Superfamily_domains:SSF47473																	MODERATE	1	SNV	3			1										PASS		.	.												C	3	2	55	3272995	3272995	G	C	1	0	0	0	0	1	0	0	0	10046	1175	41	4		4	MYL12B	18	3272995	Missense_Mutation	SNP	G	C3N-00556_TP	532263	3272995	77100290	436	17790											
PPP4R1	0	.	GRCh38	chr18	9553419	9553419	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcttttgtcaatatgaaGaagctaaagtaacaaaataa	18	13	5	5	0	3	2	1	1	2	1	3	2	3	2	0	0	2	2	0	0	10	7	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2194C>G	p.Leu732Val	p.L732V	ENST00000400556	16/20	169	149	20	193	193	0	strelka-varscan-mutect	PPP4R1,missense_variant,p.Leu732Val,ENST00000400556,NM_001042388.2;PPP4R1,missense_variant,p.Leu715Val,ENST00000400555,NM_005134.3;PPP4R1,non_coding_transcript_exon_variant,,ENST00000579609,;PPP4R1,non_coding_transcript_exon_variant,,ENST00000584754,;PPP4R1,3_prime_UTR_variant,,ENST00000285124,;PPP4R1,upstream_gene_variant,,ENST00000582594,;PPP4R1,downstream_gene_variant,,ENST00000583438,;PPP4R1,downstream_gene_variant,,ENST00000577667,;PPP4R1,upstream_gene_variant,,ENST00000578010,;PPP4R1,upstream_gene_variant,,ENST00000578329,;	C	ENST00000400556	Transcript	missense_variant	2268/3925	2194/2853	732/950	L/V	Ctt/Gtt		1		-1	PPP4R1	HGNC	HGNC:9320	protein_coding	YES	CCDS42412.1	ENSP00000383402	Q8TF05		UPI000006D6DE	NM_001042388.2	deleterious(0)		16/20		Low_complexity_(Seg):seg,hmmpanther:PTHR10648:SF8,hmmpanther:PTHR10648,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	9553419	9553419	G	C	1	0	0	0	0	1	0	0	0	12525	956	33	4		4	PPP4R1	18	9553419	Missense_Mutation	SNP	G	C3N-00556_TP	6280424	9553419	70819866	437	17791											
NOL4	0	.	GRCh38	chr18	33883311	33883311	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaactatggtaactataGgtcccatttccattgatgta	11	15	7	8	0	0	1	0	1	0	0	2	1	2	1	2	2	2	3	2	2	6	8	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1656C>A	p.=	p.T552T	ENST00000261592	10/11	136	102	34	133	133	0	strelka-varscan-mutect	NOL4,synonymous_variant,p.=,ENST00000261592,NM_003787.4;NOL4,synonymous_variant,p.=,ENST00000589544,NM_001198548.1;NOL4,synonymous_variant,p.=,ENST00000538587,NM_001198547.1;NOL4,synonymous_variant,p.=,ENST00000590712,NM_001198546.1;NOL4,synonymous_variant,p.=,ENST00000535384,NM_001198549.1;NOL4,downstream_gene_variant,,ENST00000586553,;NOL4,3_prime_UTR_variant,,ENST00000586314,;	T	ENST00000261592	Transcript	synonymous_variant	1954/3957	1656/1917	552/638	T	acC/acA		1		-1	NOL4	HGNC	HGNC:7870	protein_coding	YES	CCDS11907.2	ENSP00000261592	O94818		UPI000059D504	NM_003787.4			10/11		hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF17																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	33883311	33883311	G	T	1	0	0	0	0	0	0	0	1	10567	987	35	2		2	NOL4	18	33883311	Silent	SNP	G	C3N-00556_TP	24329892	33883311	46489974	438	17792											
ALPK2	0	.	GRCh38	chr18	58536763	58536763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagaaccctgctgggacaGgctctgctgctggaccccct	8	7	12	14	0	1	1	0	0	1	1	1	4	1	3	3	3	4	4	3	3	2	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.3424C>A	p.Leu1142Met	p.L1142M	ENST00000361673	5/13	159	118	41	238	237	1	strelka-varscan-mutect	ALPK2,missense_variant,p.Leu1142Met,ENST00000361673,NM_052947.3;RP11-1151B14.4,non_coding_transcript_exon_variant,,ENST00000591360,;ALPK2,downstream_gene_variant,,ENST00000587842,;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;	T	ENST00000361673	Transcript	missense_variant	3638/7303	3424/6513	1142/2170	L/M	Ctg/Atg		1		-1	ALPK2	HGNC	HGNC:20565	protein_coding	YES	CCDS11966.2	ENSP00000354991	Q86TB3		UPI000022A768	NM_052947.3	tolerated(0.17)		5/13		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	58536763	58536763	G	T	1	0	0	0	0	1	0	0	0	645	991	35	2		2	ALPK2	18	58536763	Missense_Mutation	SNP	G	C3N-00556_TP	24653452	58536763	21836522	439	17793											
KIAA1468	0	.	GRCh38	chr18	62287419	62287419	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgtggattctaaaagactgGacattgctacgcatcttttt	10	16	8	7	1	2	1	0	0	2	1	2	3	2	3	0	2	2	2	0	2	3	7	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.3322G>C	p.Asp1108His	p.D1108H	ENST00000398130	26/29	206	169	37	244	244	0	strelka-varscan-mutect	KIAA1468,missense_variant,p.Asp1108His,ENST00000398130,NM_020854.3;KIAA1468,missense_variant,p.Asp1142His,ENST00000256858,;KIAA1468,non_coding_transcript_exon_variant,,ENST00000587764,;KIAA1468,downstream_gene_variant,,ENST00000593217,;KIAA1468,downstream_gene_variant,,ENST00000587714,;KIAA1468,non_coding_transcript_exon_variant,,ENST00000587198,;	C	ENST00000398130	Transcript	missense_variant	3554/6178	3322/3651	1108/1216	D/H	Gac/Cac		1		1	KIAA1468	HGNC	HGNC:29289	protein_coding	YES	CCDS11979.2	ENSP00000381198	Q9P260		UPI0000DA5AF7	NM_020854.3	deleterious(0)		26/29		hmmpanther:PTHR32059,hmmpanther:PTHR32059:SF0,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs1275546413	.												C	3	2	55	62287419	62287419	G	C	1	0	0	0	0	1	0	0	0	8117	1174	41	4		4	KIAA1468	18	62287419	Missense_Mutation	SNP	G	C3N-00556_TP	3750656	62287419	18085866	440	17794											
SERPINB3	0	.	GRCh38	chr18	63655828	63655828	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccctcctctgtaacctcCacaaaggccttgtgtaggac	8	10	8	15	0	1	0	0	0	1	0	4	1	4	1	5	2	1	3	5	2	3	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1002G>A	p.=	p.V334V	ENST00000283752	8/8	171	158	13	249	249	0	strelka-varscan-mutect	SERPINB3,synonymous_variant,p.=,ENST00000283752,NM_006919.2;SERPINB3,synonymous_variant,p.=,ENST00000332821,;SERPINB11,5_prime_UTR_variant,,ENST00000489748,;	T	ENST00000283752	Transcript	synonymous_variant	1146/1777	1002/1173	334/390	V	gtG/gtA		1		-1	SERPINB3	HGNC	HGNC:10569	protein_coding	YES	CCDS11987.1	ENSP00000283752	P29508		UPI0000038A19	NM_006919.2			8/8		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF186,Low_complexity_(Seg):seg,SMART_domains:SM00093,Superfamily_domains:SSF56574																	LOW	1	SNV	1			1										PASS		rs749066127	.												T	2	4	55	63655828	63655828	C	T	1	0	0	0	0	0	0	0	1	14378	581	21	3		3	SERPINB3	18	63655828	Silent	SNP	C	C3N-00556_TP	1368409	63655828	16717457	441	17795											
SERPINB11	0	.	GRCh38	chr18	63723183	63723183	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatctttctggaatgtcAccaaccaagggcctatattt	10	13	8	10	0	3	1	1	1	2	0	3	2	3	2	3	2	1	1	3	2	5	4	novel		C3N-00556_TP	C3N-00556_NB	A	A																c.702A>T	p.=	p.S234S	ENST00000623262	5/5	98	72	26	162	162	0	strelka-varscan-mutect	SERPINB11,synonymous_variant,p.=,ENST00000382749,NM_080475.3;SERPINB11,synonymous_variant,p.=,ENST00000544088,;SERPINB11,synonymous_variant,p.=,ENST00000623262,NM_001291278.1;SERPINB11,synonymous_variant,p.=,ENST00000624518,;SERPINB11,downstream_gene_variant,,ENST00000489748,;SERPINB11,intron_variant,,ENST00000467649,;SERPINB11,3_prime_UTR_variant,,ENST00000536691,;SERPINB11,downstream_gene_variant,,ENST00000610304,;	T	ENST00000623262	Transcript	synonymous_variant	702/918	702/918	234/305	S	tcA/tcT		1		1	SERPINB11	HGNC	HGNC:14221	protein_coding	YES	CCDS77196.1	ENSP00000485532		A0A096LPD5	UPI0003EAEE70	NM_001291278.1			5/5		hmmpanther:PTHR11461:SF199,hmmpanther:PTHR11461,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	63723183	63723183	A	T	1	0	0	0	0	0	0	0	1	14374	146	6	4		4	SERPINB11	18	63723183	Silent	SNP	A	C3N-00556_TP	67355	63723183	16650102	442	17796											
ZNF236	0	.	GRCh38	chr18	76925497	76925497	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctaacaggacagtttgatCagaatctgctgcaaccagga	13	10	9	9	0	3	2	1	1	2	1	3	4	3	4	1	2	4	3	1	2	3	3			C3N-00556_TP	C3N-00556_NB	C	C																c.3970C>G	p.Gln1324Glu	p.Q1324E	ENST00000320610	22/31	143	134	9	216	216	0	strelka-varscan-mutect	ZNF236,missense_variant,p.Gln1322Glu,ENST00000253159,NM_007345.3;ZNF236,missense_variant,p.Gln1324Glu,ENST00000320610,NM_001306089.1;ZNF236,missense_variant,p.Gln1322Glu,ENST00000543926,;	G	ENST00000320610	Transcript	missense_variant	3971/7124	3970/5544	1324/1847	Q/E	Cag/Gag	COSM4975634,COSM4975635	1		1	ZNF236	HGNC	HGNC:13028	protein_coding	YES	CCDS77201.1	ENSP00000322361		J9JID5	UPI000268B415	NM_001306089.1	deleterious(0.01)		22/31		hmmpanther:PTHR24396:SF21,hmmpanther:PTHR24396											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	55	76925497	76925497	C	G	1	0	0	0	0	1	0	0	0	18366	827	29	4		4	ZNF236	18	76925497	Missense_Mutation	SNP	C	C3N-00556_TP	13202314	76925497	3447788	443	17797											
PIP5K1C	0	.	GRCh38	chr19	3646020	3646020	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgaacttgaaaaagcgCtcggcatagaagctggggcg	12	7	13	9	3	1	3	1	2	0	1	2	3	1	3	0	3	3	3	0	3	5	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1299G>A	p.=	p.E433E	ENST00000589578	11/17	292	235	57	301	301	0	strelka-varscan-mutect	PIP5K1C,synonymous_variant,p.=,ENST00000335312,NM_012398.2;PIP5K1C,synonymous_variant,p.=,ENST00000537021,;PIP5K1C,synonymous_variant,p.=,ENST00000589578,NM_001300849.1;PIP5K1C,synonymous_variant,p.=,ENST00000539785,NM_001195733.1;PIP5K1C,non_coding_transcript_exon_variant,,ENST00000592530,;PIP5K1C,downstream_gene_variant,,ENST00000587482,;	T	ENST00000589578	Transcript	synonymous_variant	1299/2933	1299/2124	433/707	E	gaG/gaA		1		-1	PIP5K1C	HGNC	HGNC:8996	protein_coding	YES	CCDS74257.1	ENSP00000466363	O60331		UPI0001AAAED7	NM_001300849.1			11/17		Gene3D:1bo1A02,Pfam_domain:PF01504,PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF26,SMART_domains:SM00330,Superfamily_domains:SSF56104																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	55	3646020	3646020	C	T	1	0	0	0	0	0	0	0	1	12036	796	28	3		3	PIP5K1C	19	3646020	Silent	SNP	C	C3N-00556_TP		3646020	54971596	444	17798											
SEMA6B	0	.	GRCh38	chr19	4550908	4550908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgtcaggtcaaaggCgcagacagccgagccaggga	11	4	14	12	2	2	1	2	0	0	1	2	3	2	2	3	3	2	1	3	3	1	0	rs769580864		C3N-00556_TP	C3N-00556_NB	C	C																c.1012G>T	p.Ala338Ser	p.A338S	ENST00000586582	11/17	164	120	44	143	141	2	strelka-varscan-mutect	SEMA6B,missense_variant,p.Ala338Ser,ENST00000586582,NM_032108.3;SEMA6B,missense_variant,p.Ala338Ser,ENST00000586965,;SEMA6B,upstream_gene_variant,,ENST00000589889,;	A	ENST00000586582	Transcript	missense_variant	1323/3986	1012/2667	338/888	A/S	Gcc/Tcc	rs769580864	1		-1	SEMA6B	HGNC	HGNC:10739	protein_coding	YES	CCDS12131.1	ENSP00000467290	Q9H3T3		UPI000004BA6B	NM_032108.3	deleterious(0.02)		11/17		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF10,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		rs769580864	.												A	3	1	55	4550908	4550908	C	A	1	0	0	0	0	1	0	0	0	14316	768	27	1		1	SEMA6B	19	4550908	Missense_Mutation	SNP	C	C3N-00556_TP	904888	4550908	54066708	445	17799											
DPP9	0	.	GRCh38	chr19	4694737	4694737	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgactttgtacaaatggcaGaagccggtcttgcattcatt	10	13	10	8	1	2	2	1	1	1	1	2	2	2	2	1	2	3	3	1	2	3	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1440C>T	p.=	p.F480F	ENST00000262960	13/22	280	262	18	253	253	0	strelka-varscan-mutect	DPP9,synonymous_variant,p.=,ENST00000262960,NM_139159.4;DPP9,synonymous_variant,p.=,ENST00000594671,;DPP9,synonymous_variant,p.=,ENST00000598800,;DPP9,synonymous_variant,p.=,ENST00000597849,;DPP9,upstream_gene_variant,,ENST00000595327,;DPP9,3_prime_UTR_variant,,ENST00000599163,;DPP9,non_coding_transcript_exon_variant,,ENST00000597145,;DPP9,non_coding_transcript_exon_variant,,ENST00000601764,;DPP9,non_coding_transcript_exon_variant,,ENST00000599998,;DPP9,upstream_gene_variant,,ENST00000597253,;	A	ENST00000262960	Transcript	synonymous_variant	1718/4295	1440/2679	480/892	F	ttC/ttT		1		-1	DPP9	HGNC	HGNC:18648	protein_coding	YES	CCDS45928.1	ENSP00000262960	Q86TI2		UPI000004DB00	NM_139159.4			13/22		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF109,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	4694737	4694737	G	A	1	0	0	0	0	0	0	0	1	4548	933	33	3		3	DPP9	19	4694737	Silent	SNP	G	C3N-00556_TP	143829	4694737	53922879	446	17800											
C19orf45	0	.	GRCh38	chr19	7501290	7501290	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatcttcgaccgcgactcCctgcctcctggcgaccgcga	5	8	9	19	6	2	0	1	0	1	0	5	4	4	0	5	1	1	0	5	1	0	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.468C>A	p.=	p.S156S	ENST00000361664	2/9	193	140	53	140	140	0	strelka-varscan-mutect	C19orf45,synonymous_variant,p.=,ENST00000361664,NM_198534.2;C19orf45,synonymous_variant,p.=,ENST00000601176,;C19orf45,synonymous_variant,p.=,ENST00000596132,;C19orf45,synonymous_variant,p.=,ENST00000597207,;PEX11G,upstream_gene_variant,,ENST00000593942,NM_001300881.1;C19orf45,synonymous_variant,p.=,ENST00000596524,;C19orf45,upstream_gene_variant,,ENST00000600112,;	A	ENST00000361664	Transcript	synonymous_variant	609/1679	468/1518	156/505	S	tcC/tcA		1		1	C19orf45	HGNC	HGNC:24745	protein_coding	YES	CCDS12179.2	ENSP00000355241	Q8NA69		UPI00001D83AB	NM_198534.2			2/9		Pfam_domain:PF15373,hmmpanther:PTHR34828																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	7501290	7501290	C	A	1	0	0	0	0	0	0	0	1	1912	610	22	2		2	C19orf45	19	7501290	Silent	SNP	C	C3N-00556_TP	2806553	7501290	51116326	447	17801											
CAMSAP3	0	.	GRCh38	chr19	7613131	7613131	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaggcgtcttcggaggggGagccccgggtggggctgggg	4	5	24	8	3	1	0	0	0	1	0	2	3	1	3	2	10	1	1	2	10	0	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2719G>T	p.Glu907Ter	p.E907*	ENST00000446248	13/19	82	76	6	60	60	0	strelka-varscan-mutect	CAMSAP3,stop_gained,p.Glu907Ter,ENST00000446248,NM_001080429.2;CAMSAP3,stop_gained,p.Glu880Ter,ENST00000160298,NM_020902.1;MIR6792,upstream_gene_variant,,ENST00000614460,;CAMSAP3,upstream_gene_variant,,ENST00000595692,;CAMSAP3,upstream_gene_variant,,ENST00000593434,;	T	ENST00000446248	Transcript	stop_gained	2820/4179	2719/3831	907/1276	E/*	Gag/Tag		1		1	CAMSAP3	HGNC	HGNC:29307	protein_coding	YES	CCDS45947.1	ENSP00000416797	Q9P1Y5		UPI0000161861	NM_001080429.2			13/19		Low_complexity_(Seg):seg,hmmpanther:PTHR21595:SF2,hmmpanther:PTHR21595																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	55	7613131	7613131	G	T	1	0	0	0	0	0	1	0	0	2305	1175	41	2		2	CAMSAP3	19	7613131	Nonsense_Mutation	SNP	G	C3N-00556_TP	111841	7613131	51004485	448	17802											
EIF3G	0	.	GRCh38	chr19	10115969	10115969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtcggggtgcccctcacctCtgcggttgggctgcatggac	3	9	15	14	3	2	0	1	0	1	0	3	1	2	1	3	5	3	3	3	5	0	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.701G>C	p.Arg234Thr	p.R234T	ENST00000253108	8/11	134	125	9	124	124	0	strelka-varscan-mutect	EIF3G,missense_variant,p.Arg234Thr,ENST00000253108,NM_003755.3;EIF3G,missense_variant,p.Arg226Thr,ENST00000589454,;EIF3G,missense_variant,p.Arg236Thr,ENST00000588709,;EIF3G,missense_variant,p.Arg199Thr,ENST00000587146,;EIF3G,missense_variant,p.Arg45Thr,ENST00000593054,;PPAN-P2RY11,downstream_gene_variant,,ENST00000428358,NM_001198690.1;PPAN-P2RY11,downstream_gene_variant,,ENST00000393796,NM_001040664.2;P2RY11,downstream_gene_variant,,ENST00000321826,NM_002566.4;PPAN,downstream_gene_variant,,ENST00000253107,NM_020230.5;PPAN,downstream_gene_variant,,ENST00000393793,;PPAN,downstream_gene_variant,,ENST00000444703,;P2RY11,downstream_gene_variant,,ENST00000471843,;EIF3G,downstream_gene_variant,,ENST00000587168,;EIF3G,splice_region_variant,,ENST00000590158,;EIF3G,downstream_gene_variant,,ENST00000589009,;PPAN,downstream_gene_variant,,ENST00000486482,;EIF3G,downstream_gene_variant,,ENST00000592485,;EIF3G,downstream_gene_variant,,ENST00000590940,;EIF3G,downstream_gene_variant,,ENST00000593095,;EIF3G,downstream_gene_variant,,ENST00000589674,;EIF3G,downstream_gene_variant,,ENST00000593066,;EIF3G,downstream_gene_variant,,ENST00000587993,;EIF3G,downstream_gene_variant,,ENST00000587681,;	G	ENST00000253108	Transcript	missense_variant,splice_region_variant	744/1103	701/963	234/320	R/T	aGa/aCa		1		-1	EIF3G	HGNC	HGNC:3274	protein_coding	YES	CCDS12227.1	ENSP00000253108	O75821		UPI000012D2FE	NM_003755.3	tolerated(0.11)		8/11		Gene3D:3.30.70.330,HAMAP:MF_03006,PIRSF_domain:PIRSF037949,hmmpanther:PTHR10352,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		rs1423685248	.												G	3	3	55	10115969	10115969	C	G	1	0	0	0	0	1	0	0	0	4851	927	32	4		4	EIF3G	19	10115969	Missense_Mutation	SNP	C	C3N-00556_TP	2502838	10115969	48501647	449	17803											
TYK2	0	.	GRCh38	chr19	10358069	10358069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaaggggctggtgccctCtgccaaccccagccgggcca	7	5	14	15	1	1	1	0	1	1	0	1	2	1	1	6	4	4	1	6	4	2	0			C3N-00556_TP	C3N-00556_NB	C	C																c.2245G>A	p.Glu749Lys	p.E749K	ENST00000525621	16/25	319	296	23	261	260	1	strelka-varscan-mutect	TYK2,missense_variant,p.Glu749Lys,ENST00000525621,NM_003331.4;TYK2,missense_variant,p.Glu749Lys,ENST00000264818,;TYK2,missense_variant,p.Glu564Lys,ENST00000524462,;TYK2,missense_variant,p.Glu749Lys,ENST00000529370,;TYK2,downstream_gene_variant,,ENST00000525220,;TYK2,upstream_gene_variant,,ENST00000530560,;TYK2,upstream_gene_variant,,ENST00000529422,;TYK2,upstream_gene_variant,,ENST00000592137,;TYK2,3_prime_UTR_variant,,ENST00000533334,;TYK2,upstream_gene_variant,,ENST00000529739,;TYK2,upstream_gene_variant,,ENST00000530220,;TYK2,upstream_gene_variant,,ENST00000529412,;TYK2,upstream_gene_variant,,ENST00000527481,;TYK2,upstream_gene_variant,,ENST00000534228,;TYK2,downstream_gene_variant,,ENST00000531620,;	T	ENST00000525621	Transcript	missense_variant	2727/4347	2245/3564	749/1187	E/K	Gag/Aag	COSM380936	1		-1	TYK2	HGNC	HGNC:12440	protein_coding	YES	CCDS12236.1	ENSP00000431885	P29597	A0A024R7E4	UPI000013D573	NM_003331.4	tolerated(0.21)		16/25		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000636,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF244,SMART_domains:SM00219,Superfamily_domains:SSF56112											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	55	10358069	10358069	C	T	1	0	0	0	0	1	0	0	0	17325	922	32	3		3	TYK2	19	10358069	Missense_Mutation	SNP	C	C3N-00556_TP	242100	10358069	48259547	450	17804											
CCDC151	0	.	GRCh38	chr19	11424020	11424020	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgtagcagcaggtgctCgcggtgggtctgctcgtggg	4	9	19	9	3	1	0	0	0	1	0	3	1	1	1	0	5	4	5	0	5	1	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.973G>T	p.Glu325Ter	p.E325*	ENST00000356392	8/13	84	56	28	94	94	0	strelka-varscan-mutect	CCDC151,stop_gained,p.Glu325Ter,ENST00000356392,NM_145045.4,NM_001302453.1;CCDC151,stop_gained,p.Glu265Ter,ENST00000591179,NM_001302454.1;CCDC151,stop_gained,p.Glu134Ter,ENST00000586836,;RGL3,upstream_gene_variant,,ENST00000380456,NM_001035223.3;RGL3,upstream_gene_variant,,ENST00000393423,NM_001161616.2;RGL3,upstream_gene_variant,,ENST00000567080,;RGL3,upstream_gene_variant,,ENST00000561570,;CCDC151,3_prime_UTR_variant,,ENST00000591345,;RGL3,upstream_gene_variant,,ENST00000563726,;RGL3,upstream_gene_variant,,ENST00000562663,;RGL3,upstream_gene_variant,,ENST00000453604,;RGL3,upstream_gene_variant,,ENST00000569439,;RGL3,upstream_gene_variant,,ENST00000568420,;	A	ENST00000356392	Transcript	stop_gained	1061/2107	973/1788	325/595	E/*	Gag/Tag		1		-1	CCDC151	HGNC	HGNC:28303	protein_coding	YES	CCDS42501.1	ENSP00000348757	A5D8V7		UPI000040CC83	NM_145045.4,NM_001302453.1			8/13		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21694,hmmpanther:PTHR21694:SF24																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	55	11424020	11424020	C	A	1	0	0	0	0	0	1	0	0	2472	893	31	1		1	CCDC151	19	11424020	Nonsense_Mutation	SNP	C	C3N-00556_TP	1065951	11424020	47193596	451	17805											
ZNF563	0	.	GRCh38	chr19	12319657	12319657	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttgtgtccagaatcaactCtgatgtggctattaagggat	10	14	11	6	0	2	2	1	1	1	1	3	3	3	3	1	2	1	2	1	2	4	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.368G>C	p.Arg123Thr	p.R123T	ENST00000293725	4/4	183	172	11	228	228	0	strelka-varscan-mutect	ZNF563,missense_variant,p.Arg123Thr,ENST00000293725,NM_145276.2;ZNF563,missense_variant,p.Arg123Thr,ENST00000595977,;ZNF563,missense_variant,p.Arg35Thr,ENST00000594577,;ZNF563,missense_variant,p.Arg91Thr,ENST00000601858,;	G	ENST00000293725	Transcript	missense_variant	574/2754	368/1431	123/476	R/T	aGa/aCa		1		-1	ZNF563	HGNC	HGNC:30498	protein_coding	YES	CCDS12270.1	ENSP00000293725	Q8TA94		UPI0000072E62	NM_145276.2	tolerated(0.1)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF14,hmmpanther:PTHR24379																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	12319657	12319657	C	G	1	0	0	0	0	1	0	0	0	18568	913	32	4		4	ZNF563	19	12319657	Missense_Mutation	SNP	C	C3N-00556_TP	895637	12319657	46297959	452	17806											
ILVBL	0	.	GRCh38	chr19	15117975	15117975	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcttgctgctgtggctGaggacacggccataggatag	9	10	14	8	1	1	2	0	2	1	0	1	4	1	4	1	4	2	3	1	4	2	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1092C>A	p.=	p.L364L	ENST00000263383	10/16	248	210	38	201	200	1	strelka-varscan-mutect	ILVBL,synonymous_variant,p.=,ENST00000263383,NM_006844.4;ILVBL,synonymous_variant,p.=,ENST00000534378,;ILVBL,synonymous_variant,p.=,ENST00000598709,;SYDE1,downstream_gene_variant,,ENST00000600252,;SYDE1,downstream_gene_variant,,ENST00000342784,NM_033025.5;SYDE1,downstream_gene_variant,,ENST00000600440,NM_001300910.1;ILVBL,downstream_gene_variant,,ENST00000527093,;ILVBL,downstream_gene_variant,,ENST00000600984,;SYDE1,downstream_gene_variant,,ENST00000602203,;ILVBL,downstream_gene_variant,,ENST00000531635,;ILVBL,3_prime_UTR_variant,,ENST00000533148,;ILVBL,non_coding_transcript_exon_variant,,ENST00000533086,;ILVBL,non_coding_transcript_exon_variant,,ENST00000525880,;ILVBL,upstream_gene_variant,,ENST00000534806,;ILVBL,upstream_gene_variant,,ENST00000524779,;ILVBL,upstream_gene_variant,,ENST00000596093,;	T	ENST00000263383	Transcript	synonymous_variant	1232/2304	1092/1899	364/632	L	ctC/ctA		1		-1	ILVBL	HGNC	HGNC:6041	protein_coding	YES	CCDS12325.1	ENSP00000263383	A1L0T0		UPI000007055E	NM_006844.4			10/16		hmmpanther:PTHR18968,hmmpanther:PTHR18968:SF127,Gene3D:3.40.50.1220,Pfam_domain:PF00205,Superfamily_domains:SSF52467																	LOW	1	SNV	1			1										PASS		rs1158275083	.												T	2	4	55	15117975	15117975	G	T	1	0	0	0	0	0	0	0	1	7618	1277	45	2		2	ILVBL	19	15117975	Silent	SNP	G	C3N-00556_TP	2798318	15117975	43499641	453	17807											
MYO9B	0	.	GRCh38	chr19	17180957	17180957	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccaaatgatcaagagcatCaaaggattgccctggcaggg	15	6	11	9	0	2	2	2	1	0	1	2	3	2	3	2	3	3	2	2	3	4	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2250C>G	p.Ile750Met	p.I750M	ENST00000595618	15/40	121	105	16	115	115	0	strelka-varscan-mutect	MYO9B,missense_variant,p.Ile750Met,ENST00000595618,NM_001130065.1;MYO9B,missense_variant,p.Ile750Met,ENST00000594824,NM_004145.3;MYO9B,missense_variant,p.Ile750Met,ENST00000397274,;MYO9B,missense_variant,p.Ile750Met,ENST00000595641,;MYO9B,intron_variant,,ENST00000602177,;MYO9B,intron_variant,,ENST00000594971,;CTD-3032J10.4,upstream_gene_variant,,ENST00000594678,;MYO9B,non_coding_transcript_exon_variant,,ENST00000601749,;MYO9B,non_coding_transcript_exon_variant,,ENST00000598101,;MYO9B,upstream_gene_variant,,ENST00000601490,;MYO9B,upstream_gene_variant,,ENST00000598464,;	G	ENST00000595618	Transcript	missense_variant	2402/7623	2250/6069	750/2022	I/M	atC/atG		1		1	MYO9B	HGNC	HGNC:7609	protein_coding	YES	CCDS46010.1	ENSP00000471457	Q13459		UPI000020367C	NM_001130065.1	deleterious(0.05)		15/40		PROSITE_profiles:PS51456,SMART_domains:SM00242																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	17180957	17180957	C	G	1	0	0	0	0	1	0	0	0	10086	816	29	4		4	MYO9B	19	17180957	Missense_Mutation	SNP	C	C3N-00556_TP	2062982	17180957	41436659	454	17808											
MYO9B	0	.	GRCh38	chr19	17192826	17192826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggaaaatcctgctgctgcaGagctggttccggatggtgct	7	10	14	10	2	0	1	0	0	0	1	2	3	2	3	2	4	5	6	2	4	2	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2892G>A	p.=	p.Q964Q	ENST00000595618	21/40	148	139	9	105	105	0	strelka-varscan-mutect	MYO9B,synonymous_variant,p.=,ENST00000595618,NM_001130065.1;MYO9B,synonymous_variant,p.=,ENST00000594824,NM_004145.3;MYO9B,synonymous_variant,p.=,ENST00000397274,;MYO9B,synonymous_variant,p.=,ENST00000595641,;MYO9B,downstream_gene_variant,,ENST00000602177,;MYO9B,downstream_gene_variant,,ENST00000601749,;	A	ENST00000595618	Transcript	synonymous_variant	3044/7623	2892/6069	964/2022	Q	caG/caA		1		1	MYO9B	HGNC	HGNC:7609	protein_coding	YES	CCDS46010.1	ENSP00000471457	Q13459		UPI000020367C	NM_001130065.1			21/40		Pfam_domain:PF00612,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,SMART_domains:SM00015,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	17192826	17192826	G	A	1	0	0	0	0	0	0	0	1	10086	933	33	3		3	MYO9B	19	17192826	Silent	SNP	G	C3N-00556_TP	11869	17192826	41424790	455	17809											
KLHL26	0	.	GRCh38	chr19	18668407	18668407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaccagctgcctgagccggGagcccgccacttccgcgagc	6	5	12	18	4	0	1	0	1	0	0	1	3	1	2	6	1	6	1	6	1	1	2	rs772002583		C3N-00556_TP	C3N-00556_NB	G	G																c.1010G>T	p.Gly337Val	p.G337V	ENST00000300976	3/3	188	167	21	214	214	0	strelka-varscan-mutect	KLHL26,missense_variant,p.Gly337Val,ENST00000300976,NM_018316.1;KLHL26,intron_variant,,ENST00000599006,;KLHL26,downstream_gene_variant,,ENST00000595423,;KLHL26,downstream_gene_variant,,ENST00000595182,;KLHL26,downstream_gene_variant,,ENST00000596843,;KLHL26,downstream_gene_variant,,ENST00000600657,;	T	ENST00000300976	Transcript	missense_variant	1100/4407	1010/1848	337/615	G/V	gGa/gTa	rs772002583	1		1	KLHL26	HGNC	HGNC:25623	protein_coding	YES	CCDS12384.1	ENSP00000300976	Q53HC5	A0A024R7N5	UPI0000071AC2	NM_018316.1	tolerated(0.09)		3/3		hmmpanther:PTHR24412:SF56,hmmpanther:PTHR24412,PIRSF_domain:PIRSF037037,Gene3D:1k3iA02,SMART_domains:SM00612,Superfamily_domains:0052715																	MODERATE	1	SNV	1			1										PASS		rs772002583	.												T	3	4	55	18668407	18668407	G	T	1	0	0	0	0	1	0	0	0	8245	1174	41	2		2	KLHL26	19	18668407	Missense_Mutation	SNP	G	C3N-00556_TP	1475581	18668407	39949209	456	17810											
ZNF93	0	.	GRCh38	chr19	19933249	19933249	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagattctttccaaaaagtGatactgagaagatatgaaaa	20	10	7	4	0	1	5	0	3	1	3	2	6	2	5	1	0	1	0	1	0	8	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.294G>C	p.=	p.V98V	ENST00000343769	4/4	48	34	14	80	80	0	strelka-varscan-mutect	ZNF93,synonymous_variant,p.=,ENST00000343769,NM_031218.3;ZNF93,synonymous_variant,p.=,ENST00000588146,;ZNF93,downstream_gene_variant,,ENST00000592160,;AC007204.2,intron_variant,,ENST00000592245,;ZNF93,3_prime_UTR_variant,,ENST00000586021,;	C	ENST00000343769	Transcript	synonymous_variant	322/2648	294/1863	98/620	V	gtG/gtC		1		1	ZNF93	HGNC	HGNC:13169	protein_coding	YES	CCDS32973.1	ENSP00000342002	P35789		UPI00002263B9	NM_031218.3			4/4		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF374																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	55	19933249	19933249	G	C	1	0	0	0	0	0	0	0	1	18795	1277	45	4		4	ZNF93	19	19933249	Silent	SNP	G	C3N-00556_TP	1264842	19933249	38684367	457	17811											
GPI	0	.	GRCh38	chr19	34396601	34396601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaccaagatgataccctgtGacttcctcatcccggtccag	9	9	8	15	1	1	3	1	2	0	1	4	3	4	3	5	1	1	1	5	1	2	2			C3N-00556_TP	C3N-00556_NB	G	G																c.1246G>A	p.Asp416Asn	p.D416N	ENST00000415930	14/18	310	290	20	347	347	0	strelka-varscan-mutect	GPI,missense_variant,p.Asp416Asn,ENST00000415930,NM_001184722.1;GPI,missense_variant,p.Asp405Asn,ENST00000356487,NM_000175.3,NM_001289790.1;GPI,missense_variant,p.Asp420Asn,ENST00000588991,NM_001289789.1;GPI,missense_variant,p.Asp405Asn,ENST00000586425,;RP11-618P17.4,missense_variant,p.Asp47Asn,ENST00000592740,;RP11-618P17.4,upstream_gene_variant,,ENST00000606020,;GPI,non_coding_transcript_exon_variant,,ENST00000586392,;GPI,non_coding_transcript_exon_variant,,ENST00000589985,;GPI,upstream_gene_variant,,ENST00000586077,;	A	ENST00000415930	Transcript	missense_variant	1416/4000	1246/1710	416/569	D/N	Gac/Aac	COSM4616511	1		1	GPI	HGNC	HGNC:4458	protein_coding	YES	CCDS54246.1	ENSP00000405573	P06744		UPI00017A6DE4	NM_001184722.1	deleterious_low_confidence(0.01)		14/18		Gene3D:3.40.50.10490,HAMAP:MF_00473,Pfam_domain:PF00342,PROSITE_profiles:PS51463,hmmpanther:PTHR11469,hmmpanther:PTHR11469:SF4,Superfamily_domains:SSF53697											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	55	34396601	34396601	G	A	1	0	0	0	0	1	0	0	0	6513	1290	45	3		3	GPI	19	34396601	Missense_Mutation	SNP	G	C3N-00556_TP	14463352	34396601	24221015	458	17812											
LSR	0	.	GRCh38	chr19	35258944	35258944	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccttttcatcccgactcaGatgctgacctgacctttgac	7	12	7	15	2	2	4	2	3	0	1	3	5	3	4	4	0	1	1	4	0	0	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.599-1G>T		p.X200_splice	ENST00000621372		446	416	30	424	424	0	strelka-varscan-mutect	LSR,splice_acceptor_variant,,ENST00000602122,NM_001260489.1;LSR,splice_acceptor_variant,,ENST00000621372,NM_205834.3;LSR,splice_acceptor_variant,,ENST00000361790,;LSR,splice_acceptor_variant,,ENST00000354900,NM_015925.6;LSR,splice_acceptor_variant,,ENST00000360798,NM_205835.3;LSR,splice_acceptor_variant,,ENST00000605618,;LSR,splice_acceptor_variant,,ENST00000347609,;LSR,splice_acceptor_variant,,ENST00000601623,;LSR,splice_acceptor_variant,,ENST00000599658,;LSR,intron_variant,,ENST00000427250,NM_001260490.1;AD000684.2,upstream_gene_variant,,ENST00000602262,;LSR,splice_acceptor_variant,,ENST00000597933,;LSR,splice_acceptor_variant,,ENST00000602044,;	T	ENST00000621372	Transcript	splice_acceptor_variant	-/2274	599/1950	200/649				1		1	LSR	HGNC	HGNC:29572	protein_coding	YES	CCDS12450.1	ENSP00000480821	Q86X29		UPI000003117A	NM_205834.3				2/9																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	55	35258944	35258944	G	T	1	0	0	0	0	0	0	1	0	8971	956	33	2		2	LSR	19	35258944	Splice_Site	SNP	G	C3N-00556_TP	862343	35258944	23358672	459	17813											
KMT2B	0	.	GRCh38	chr19	35721298	35721298	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctactccttcgggcccctCagtttaccccaagcgaagcc	7	8	7	19	2	1	0	1	0	0	0	3	1	2	0	7	1	4	1	7	1	4	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1951C>G	p.Gln651Glu	p.Q651E	ENST00000420124	3/37	202	190	12	222	222	0	strelka-varscan-mutect	KMT2B,missense_variant,p.Gln651Glu,ENST00000420124,NM_014727.2;ZBTB32,downstream_gene_variant,,ENST00000392197,;ZBTB32,downstream_gene_variant,,ENST00000262630,NM_014383.1;ZBTB32,downstream_gene_variant,,ENST00000426659,;KMT2B,intron_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000481182,;	G	ENST00000420124	Transcript	missense_variant	1951/8469	1951/8148	651/2715	Q/E	Cag/Gag		1		1	KMT2B	HGNC	HGNC:15840	protein_coding	YES	CCDS46055.1	ENSP00000398837	Q9UMN6		UPI00001376B5	NM_014727.2	deleterious_low_confidence(0.01)		3/37																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	35721298	35721298	C	G	1	0	0	0	0	1	0	0	0	8296	827	29	4		4	KMT2B	19	35721298	Missense_Mutation	SNP	C	C3N-00556_TP	462354	35721298	22896318	460	17814											
C19orf33	0	.	GRCh38	chr19	38304443	38304443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcccaagctcagtcccCacaaagttcagggccggtcg	10	6	11	14	2	2	1	2	0	0	1	5	2	4	1	4	2	1	2	4	2	2	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.294C>T	p.His99Tyr	p.H99Y	ENST00000591889	4/6	101	89	12	168	168	0	strelka-varscan-mutect	CTB-102L5.4,missense_variant,p.His99Tyr,ENST00000591889,;C19orf33,missense_variant,p.His31Tyr,ENST00000588605,NM_001317801.1;C19orf33,missense_variant,p.His31Tyr,ENST00000301246,NM_033520.1;CTB-102L5.4,synonymous_variant,p.=,ENST00000587519,;YIF1B,downstream_gene_variant,,ENST00000392124,;YIF1B,downstream_gene_variant,,ENST00000337679,NM_001145463.1;YIF1B,downstream_gene_variant,,ENST00000339413,NM_001039672.2,NM_001039673.2;YIF1B,downstream_gene_variant,,ENST00000592694,;YIF1B,downstream_gene_variant,,ENST00000591755,;YIF1B,downstream_gene_variant,,ENST00000329420,NM_001039671.2,NM_001145461.1;YIF1B,downstream_gene_variant,,ENST00000591784,NM_001145462.1;YIF1B,downstream_gene_variant,,ENST00000592246,;YIF1B,downstream_gene_variant,,ENST00000589247,;YIF1B,downstream_gene_variant,,ENST00000588002,;YIF1B,downstream_gene_variant,,ENST00000587039,;YIF1B,downstream_gene_variant,,ENST00000587361,;C19orf33,non_coding_transcript_exon_variant,,ENST00000591852,;C19orf33,non_coding_transcript_exon_variant,,ENST00000589986,;YIF1B,downstream_gene_variant,,ENST00000589644,;YIF1B,downstream_gene_variant,,ENST00000585563,;YIF1B,downstream_gene_variant,,ENST00000586319,;YIF1B,downstream_gene_variant,,ENST00000589151,;	T	ENST00000591889	Transcript	missense_variant	294/528	295/462	99/153	H/Y	Cac/Tac		1		1	CTB-102L5.4	Clone_based_vega_gene		protein_coding	YES		ENSP00000468040		K7EQZ3	UPI0002840CB6		deleterious_low_confidence(0.02)		4/6		hmmpanther:PTHR21830:SF0,hmmpanther:PTHR21830,Pfam_domain:PF15761																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	55	38304443	38304443	C	T	1	0	0	0	0	1	0	0	0	1907	594	21	3		3	C19orf33	19	38304443	Missense_Mutation	SNP	C	C3N-00556_TP	2583145	38304443	20313173	461	17815											
LTBP4	0	.	GRCh38	chr19	40614003	40614003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgagtgcatctgtcctccggGacaccgcgctggcccggacc	5	6	13	17	5	1	0	0	0	1	0	3	3	3	2	5	3	1	2	5	3	0	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2846G>T	p.Gly949Val	p.G949V	ENST00000308370	21/33	235	176	59	211	211	0	strelka-varscan-mutect	LTBP4,missense_variant,p.Gly912Val,ENST00000204005,NM_003573.2;LTBP4,missense_variant,p.Gly949Val,ENST00000308370,NM_001042544.1;LTBP4,missense_variant,p.Gly882Val,ENST00000396819,NM_001042545.1;LTBP4,missense_variant,p.Gly282Val,ENST00000243562,;LTBP4,missense_variant,p.Gly181Val,ENST00000601032,;LTBP4,missense_variant,p.Gly57Val,ENST00000599724,;LTBP4,missense_variant,p.Gly93Val,ENST00000612121,;LTBP4,missense_variant,p.Gly55Val,ENST00000597071,;LTBP4,missense_variant,p.Gly30Val,ENST00000593463,;LTBP4,missense_variant,p.Gly30Val,ENST00000618486,;LTBP4,upstream_gene_variant,,ENST00000622457,;LTBP4,downstream_gene_variant,,ENST00000598055,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595118,;LTBP4,non_coding_transcript_exon_variant,,ENST00000622565,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602251,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600499,;LTBP4,non_coding_transcript_exon_variant,,ENST00000610893,;LTBP4,non_coding_transcript_exon_variant,,ENST00000612845,;LTBP4,upstream_gene_variant,,ENST00000318809,;LTBP4,downstream_gene_variant,,ENST00000546155,;LTBP4,downstream_gene_variant,,ENST00000598717,;LTBP4,downstream_gene_variant,,ENST00000598256,;LTBP4,upstream_gene_variant,,ENST00000597816,;LTBP4,upstream_gene_variant,,ENST00000622107,;LTBP4,upstream_gene_variant,,ENST00000617753,;LTBP4,upstream_gene_variant,,ENST00000595665,;LTBP4,upstream_gene_variant,,ENST00000594448,;LTBP4,upstream_gene_variant,,ENST00000596351,;LTBP4,upstream_gene_variant,,ENST00000601464,;	T	ENST00000308370	Transcript	missense_variant	2846/4948	2846/4875	949/1624	G/V	gGa/gTa		1		1	LTBP4	HGNC	HGNC:6717	protein_coding	YES	CCDS74369.1	ENSP00000311905	Q8N2S1		UPI0000DACAC4	NM_001042544.1	deleterious(0)		21/33		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_profiles:PS50026,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF43,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	40614003	40614003	G	T	1	0	0	0	0	1	0	0	0	8982	1174	41	2		2	LTBP4	19	40614003	Missense_Mutation	SNP	G	C3N-00556_TP	2309560	40614003	18003613	462	17816											
PSG1	0	.	GRCh38	chr19	42877986	42877986	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttatgatgtgtaaggtgtaGgatcctgcgtcctcccgggt	6	14	13	8	2	0	1	0	1	0	0	3	2	3	2	3	3	1	2	3	3	3	4	rs765139938		C3N-00556_TP	C3N-00556_NB	G	G																c.357C>A	p.=	p.S119S	ENST00000312439	2/6	179	163	16	233	233	0	varscan-mutect	PSG1,synonymous_variant,p.=,ENST00000244296,NM_006905.2;PSG1,synonymous_variant,p.=,ENST00000436291,NM_001184825.1;PSG1,synonymous_variant,p.=,ENST00000595356,NM_001184826.1;PSG1,synonymous_variant,p.=,ENST00000312439,NM_001297773.1;PSG1,synonymous_variant,p.=,ENST00000403380,;PSG1,synonymous_variant,p.=,ENST00000595124,;PSG1,synonymous_variant,p.=,ENST00000595930,;PSG1,synonymous_variant,p.=,ENST00000597058,;PSG1,non_coding_transcript_exon_variant,,ENST00000601073,;PSG1,non_coding_transcript_exon_variant,,ENST00000601456,;	T	ENST00000312439	Transcript	synonymous_variant	443/1882	357/1287	119/428	S	tcC/tcA	rs765139938	1		-1	PSG1	HGNC	HGNC:9514	protein_coding	YES	CCDS74380.1	ENSP00000308970	P11464		UPI000006DB43	NM_001297773.1			2/6		hmmpanther:PTHR10489,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs765139938	.												T	2	4	55	42877986	42877986	G	T	1	0	0	0	0	0	0	0	1	12804	987	35	2		2	PSG1	19	42877986	Silent	SNP	G	C3N-00556_TP	2263983	42877986	15739630	463	17817											
XRCC1	0	.	GRCh38	chr19	43543416	43543416	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttgcggcaccaccccataGagctggtgaggaagtaactt	10	8	12	11	1	0	2	0	1	0	1	0	3	0	3	3	3	3	4	3	3	3	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1878C>G	p.=	p.L626L	ENST00000262887	17/17	117	109	8	157	157	0	strelka-varscan-mutect	XRCC1,synonymous_variant,p.=,ENST00000262887,NM_006297.2;XRCC1,synonymous_variant,p.=,ENST00000543982,;	C	ENST00000262887	Transcript	synonymous_variant	2426/2802	1878/1902	626/633	L	ctC/ctG		1		-1	XRCC1	HGNC	HGNC:12828	protein_coding	YES	CCDS12624.1	ENSP00000262887	P18887		UPI0000231BEC	NM_006297.2			17/17		Gene3D:3.40.50.10190,Pfam_domain:PF16589,PROSITE_profiles:PS50172,hmmpanther:PTHR11370,hmmpanther:PTHR11370:SF3,Superfamily_domains:SSF52113																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	55	43543416	43543416	G	C	1	0	0	0	0	0	0	0	1	18011	929	33	4		4	XRCC1	19	43543416	Silent	SNP	G	C3N-00556_TP	665430	43543416	15074200	464	17818											
SRRM5	0	.	GRCh38	chr19	43612811	43612811	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaattccctccaaggagaaGagtgacaacccatctccatc	13	7	8	13	0	1	3	0	1	1	2	5	5	3	4	4	2	1	0	4	2	4	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.690G>C	p.Lys230Asn	p.K230N	ENST00000607544	3/3	255	233	22	296	296	0	strelka-varscan-mutect	SRRM5,missense_variant,p.Lys230Asn,ENST00000607544,;SRRM5,missense_variant,p.Lys230Asn,ENST00000417606,NM_001145641.1;ZNF428,intron_variant,,ENST00000300811,NM_182498.3;ZNF428,intron_variant,,ENST00000598676,;ZNF428,downstream_gene_variant,,ENST00000595304,;	C	ENST00000607544	Transcript	missense_variant	1012/2698	690/2148	230/715	K/N	aaG/aaC		1		1	SRRM5	HGNC	HGNC:37248	protein_coding	YES	CCDS46095.1	ENSP00000476253	B3KS81		UPI000059D73E		tolerated(0.07)		3/3		hmmpanther:PTHR39414,hmmpanther:PTHR39414:SF1																	MODERATE		SNV	2			1										PASS		rs1397238413	.												C	3	2	55	43612811	43612811	G	C	1	0	0	0	0	1	0	0	0	15533	933	33	4		4	SRRM5	19	43612811	Missense_Mutation	SNP	G	C3N-00556_TP	69395	43612811	15004805	465	17819											
ZNF225	0	.	GRCh38	chr19	44131017	44131017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatatgccctgccaggttGatgcaggactatctataatt	11	13	9	8	0	1	2	0	2	1	0	1	3	1	3	2	2	3	2	2	2	4	6	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.403G>T	p.Asp135Tyr	p.D135Y	ENST00000262894	5/5	152	119	33	230	230	0	strelka-varscan-mutect	ZNF225,missense_variant,p.Asp135Tyr,ENST00000262894,NM_001321685.1,NM_013362.2;ZNF225,missense_variant,p.Asp135Tyr,ENST00000590612,;ZNF225,3_prime_UTR_variant,,ENST00000592780,;ZNF225,downstream_gene_variant,,ENST00000589155,;ZNF225,downstream_gene_variant,,ENST00000592360,;	T	ENST00000262894	Transcript	missense_variant	683/4482	403/2121	135/706	D/Y	Gat/Tat		1		1	ZNF225	HGNC	HGNC:13018	protein_coding	YES	CCDS46100.1	ENSP00000262894	Q9UK10		UPI000016960F	NM_001321685.1,NM_013362.2	deleterious(0.05)		5/5																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	44131017	44131017	G	T	1	0	0	0	0	1	0	0	0	18356	1290	45	2		2	ZNF225	19	44131017	Missense_Mutation	SNP	G	C3N-00556_TP	518206	44131017	14486599	466	17820											
APOC1	0	.	GRCh38	chr19	44919229	44919229	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaactcaagattgactcatGaggacctgaagggtgacatc	14	8	11	8	0	2	5	2	4	0	1	3	7	2	6	1	2	1	0	1	2	3	1			C3N-00556_TP	C3N-00556_NB	G	G																c.251G>A	p.=	p.*84*	ENST00000588750	5/5	141	117	24	155	155	0	strelka-varscan-mutect	APOC1,stop_retained_variant,p.=,ENST00000588750,NM_001321066.1,NM_001645.3;APOC1,stop_retained_variant,p.=,ENST00000588802,;APOC1,3_prime_UTR_variant,,ENST00000592885,;APOC1,3_prime_UTR_variant,,ENST00000586638,;APOC1,3_prime_UTR_variant,,ENST00000589781,;APOC1,downstream_gene_variant,,ENST00000592535,;APOC1,downstream_gene_variant,,ENST00000589078,;CTB-129P6.7,downstream_gene_variant,,ENST00000623895,;APOC1,3_prime_UTR_variant,,ENST00000592176,;APOC1,3_prime_UTR_variant,,ENST00000590334,;	A	ENST00000588750	Transcript	stop_retained_variant	576/689	251/252	84/83	*	tGa/tAa	COSM459941	1		1	APOC1	HGNC	HGNC:607	protein_coding	YES	CCDS12648.1	ENSP00000465356	P02654	A0A024R0T8	UPI0000125C19	NM_001321066.1,NM_001645.3			5/5													1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	55	44919229	44919229	G	A	1	0	0	0	0	0	0	0	1	919	1285	45	3		3	APOC1	19	44919229	Silent	SNP	G	C3N-00556_TP	788212	44919229	13698387	467	17821											
SYMPK	0	.	GRCh38	chr19	45818105	45818105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcaccacggccagcacctCtgacgtgtacacgttccgct	8	8	8	17	4	2	1	1	1	1	0	3	1	3	1	4	1	2	4	4	1	1	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2935G>C	p.Glu979Gln	p.E979Q	ENST00000245934	23/27	100	94	6	139	139	0	strelka-mutect	SYMPK,missense_variant,p.Glu979Gln,ENST00000245934,NM_004819.2;SYMPK,downstream_gene_variant,,ENST00000599814,;SYMPK,downstream_gene_variant,,ENST00000599460,;RSPH6A,upstream_gene_variant,,ENST00000221538,NM_030785.3;RSPH6A,upstream_gene_variant,,ENST00000597055,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598155,;SYMPK,3_prime_UTR_variant,,ENST00000600237,;SYMPK,non_coding_transcript_exon_variant,,ENST00000593504,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598329,;SYMPK,upstream_gene_variant,,ENST00000598364,;SYMPK,upstream_gene_variant,,ENST00000596824,;	G	ENST00000245934	Transcript	missense_variant	3180/4195	2935/3825	979/1274	E/Q	Gag/Cag		1		-1	SYMPK	HGNC	HGNC:22935	protein_coding	YES	CCDS12676.2	ENSP00000245934	Q92797	A0A024R0R6	UPI00002026C0	NM_004819.2	deleterious(0.01)		23/27		hmmpanther:PTHR15245:SF20,hmmpanther:PTHR15245,Pfam_domain:PF12295																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	45818105	45818105	C	G	1	0	0	0	0	1	0	0	0	15829	922	32	4		4	SYMPK	19	45818105	Missense_Mutation	SNP	C	C3N-00556_TP	898876	45818105	12799511	468	17822											
GLTSCR1	0	.	GRCh38	chr19	47701427	47701427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccctgtcgtcttcagctcCcggggcctccacccagcccc	3	7	8	23	2	2	0	1	0	1	0	5	0	4	0	8	2	2	1	8	2	0	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.3695C>T	p.Pro1232Leu	p.P1232L	ENST00000396720	15/15	369	345	24	335	335	0	strelka-varscan-mutect	GLTSCR1,missense_variant,p.Pro1232Leu,ENST00000396720,NM_015711.3;GLTSCR1,missense_variant,p.Pro1180Leu,ENST00000614245,;CTD-2571L23.8,intron_variant,,ENST00000599924,;GLTSCR1,non_coding_transcript_exon_variant,,ENST00000602258,;	T	ENST00000396720	Transcript	missense_variant	3889/5739	3695/4683	1232/1560	P/L	cCc/cTc		1		1	GLTSCR1	HGNC	HGNC:4332	protein_coding	YES	CCDS46134.1	ENSP00000379946	Q9NZM4		UPI00016278EE	NM_015711.3	tolerated(0.22)		15/15		hmmpanther:PTHR15572:SF1,hmmpanther:PTHR15572																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	55	47701427	47701427	C	T	1	0	0	0	0	1	0	0	0	6350	623	22	3		3	GLTSCR1	19	47701427	Missense_Mutation	SNP	C	C3N-00556_TP	1883322	47701427	10916189	469	17823											
CRX	0	.	GRCh38	chr19	47839789	47839789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tagccccctctctggcccctCcgtgggaccttccctggccc	2	9	9	21	1	1	0	0	0	1	0	4	1	3	1	8	3	1	0	8	3	1	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.722C>T	p.Ser241Phe	p.S241F	ENST00000221996	4/4	194	171	23	223	223	0	strelka-varscan-mutect	CRX,missense_variant,p.Ser241Phe,ENST00000221996,NM_000554.4;CRX,missense_variant,p.Ser241Phe,ENST00000539067,;CRX,3_prime_UTR_variant,,ENST00000613299,;CRX,downstream_gene_variant,,ENST00000566686,;CRX,upstream_gene_variant,,ENST00000602001,;CRX,downstream_gene_variant,,ENST00000556527,;	T	ENST00000221996	Transcript	missense_variant	929/4470	722/900	241/299	S/F	tCc/tTc		1		1	CRX	HGNC	HGNC:2383	protein_coding	YES	CCDS12706.1	ENSP00000221996	O43186		UPI00001284E0	NM_000554.4	tolerated(0.07)		4/4		Pfam_domain:PF03529,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	55	47839789	47839789	C	T	1	0	0	0	0	1	0	0	0	3704	855	30	3		3	CRX	19	47839789	Missense_Mutation	SNP	C	C3N-00556_TP	138362	47839789	10777827	470	17824											
POLD1	0	.	GRCh38	chr19	50403137	50403137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccggagcccttcctacGcctggcgctcaccctgcggc	4	6	13	18	4	1	0	1	0	0	0	2	2	2	2	5	4	4	1	5	4	1	2	rs556862476		C3N-00556_TP	C3N-00556_NB	G	G																c.1055G>T	p.Arg352Leu	p.R352L	ENST00000440232	9/27	144	110	34	131	130	1	strelka-varscan-mutect	POLD1,missense_variant,p.Arg352Leu,ENST00000613923,NM_001308632.1;POLD1,missense_variant,p.Arg352Leu,ENST00000440232,NM_002691.3,NM_001256849.1;POLD1,missense_variant,p.Arg352Leu,ENST00000599857,;POLD1,missense_variant,p.Arg352Leu,ENST00000595904,;POLD1,downstream_gene_variant,,ENST00000601098,;POLD1,downstream_gene_variant,,ENST00000593887,;POLD1,upstream_gene_variant,,ENST00000596425,;POLD1,missense_variant,p.Arg352Leu,ENST00000600859,;POLD1,downstream_gene_variant,,ENST00000600746,;	T	ENST00000440232	Transcript	missense_variant	1108/3444	1055/3324	352/1107	R/L	cGc/cTc	rs556862476	1		1	POLD1	HGNC	HGNC:9175	protein_coding	YES	CCDS12795.1	ENSP00000406046	P28340	A0A024R4F4	UPI000007288E	NM_002691.3,NM_001256849.1	deleterious(0)		9/27		hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF23,Pfam_domain:PF03104,Gene3D:3.30.420.10,SMART_domains:SM00486,Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1										PASS		rs556862476	.												T	3	4	55	50403137	50403137	G	T	1	0	0	0	0	1	0	0	0	12300	1087	38	1		1	POLD1	19	50403137	Missense_Mutation	SNP	G	C3N-00556_TP	2563348	50403137	8214479	471	17825											
RPS9	0	.	GRCh38	chr19	54201540	54201540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagggtcaaatttaccctgGccaagatccgcaaggccgcc	10	6	12	13	2	1	1	1	0	0	1	2	2	2	2	5	4	1	1	5	4	4	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.151G>A	p.Ala51Thr	p.A51T	ENST00000302907	3/5	174	161	13	176	176	0	varscan-mutect	RPS9,missense_variant,p.Ala51Thr,ENST00000402367,;RPS9,missense_variant,p.Ala51Thr,ENST00000441429,;RPS9,missense_variant,p.Ala51Thr,ENST00000302907,NM_001013.3;RPS9,missense_variant,p.Ala51Thr,ENST00000391752,NM_001321702.1;RPS9,missense_variant,p.Ala51Thr,ENST00000391753,;RPS9,missense_variant,p.Ala51Thr,ENST00000391751,NM_001321706.1;RPS9,missense_variant,p.Ala51Thr,ENST00000626547,;AC012314.20,upstream_gene_variant,,ENST00000426213,;RPS9,missense_variant,p.Ala51Thr,ENST00000448962,;RPS9,missense_variant,p.Ala51Thr,ENST00000445961,;RPS9,missense_variant,p.Ala51Thr,ENST00000436445,;RPS9,non_coding_transcript_exon_variant,,ENST00000495002,;RPS9,non_coding_transcript_exon_variant,,ENST00000484121,;RPS9,non_coding_transcript_exon_variant,,ENST00000460761,;	A	ENST00000302907	Transcript	missense_variant	323/829	151/585	51/194	A/T	Gcc/Acc		1		1	RPS9	HGNC	HGNC:10442	protein_coding	YES	CCDS12884.1	ENSP00000302896	P46781		UPI00000040B2	NM_001013.3	tolerated(0.17)		3/5		hmmpanther:PTHR11831,hmmpanther:PTHR11831:SF10,Pfam_domain:PF00163,TIGRFAM_domain:TIGR01018,SMART_domains:SM01390,Superfamily_domains:SSF55174																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	54201540	54201540	G	A	1	0	0	0	0	1	0	0	0	13917	1203	42	3		3	RPS9	19	54201540	Missense_Mutation	SNP	G	C3N-00556_TP	3798403	54201540	4416076	472	17826											
GP6	0	.	GRCh38	chr19	55014298	55014298	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttttttgttttgttggtaGagatgaggtttcaccatgtt	6	21	11	3	0	1	2	1	1	0	1	1	3	1	2	1	2	0	6	1	2	1	9	rs754162124		C3N-00556_TP	C3N-00556_NB	G	G																c.1647C>G	p.=	p.L549L	ENST00000310373	8/8	411	387	24	513	513	0	strelka-varscan-mutect	GP6,synonymous_variant,p.=,ENST00000310373,NM_001083899.2;GP6,3_prime_UTR_variant,,ENST00000417454,NM_016363.5;GP6,3_prime_UTR_variant,,ENST00000333884,NM_001256017.2;CTC-550B14.7,intron_variant,,ENST00000593060,;CTC-550B14.7,intron_variant,,ENST00000586845,;GP6,downstream_gene_variant,,ENST00000465648,;	C	ENST00000310373	Transcript	synonymous_variant	1675/2268	1647/1863	549/620	L	ctC/ctG	rs754162124	1		-1	GP6	HGNC	HGNC:14388	protein_coding	YES	CCDS42626.1	ENSP00000308782	Q9HCN6		UPI000013C631	NM_001083899.2			8/8																			LOW	1	SNV	1			1										PASS		rs754162124	.												C	2	2	55	55014298	55014298	G	C	1	0	0	0	0	0	0	0	1	6479	929	33	4		4	GP6	19	55014298	Silent	SNP	G	C3N-00556_TP	812758	55014298	3603318	473	17827											
DNAAF3	0	.	GRCh38	chr19	55165900	55165900	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacttcgctcgggacagggtCcgcagcaggtgccgtccatc	7	7	13	14	4	0	0	0	0	0	0	5	1	2	1	3	3	3	3	3	3	1	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.390G>T	p.=	p.R130R	ENST00000527223	3/12	318	226	92	347	347	0	strelka-varscan-mutect	DNAAF3,synonymous_variant,p.=,ENST00000527223,NM_001256714.1;DNAAF3,synonymous_variant,p.=,ENST00000391720,NM_178837.4;DNAAF3,synonymous_variant,p.=,ENST00000524407,NM_001256715.1;DNAAF3,synonymous_variant,p.=,ENST00000532817,;DNAAF3,synonymous_variant,p.=,ENST00000526003,;DNAAF3,synonymous_variant,p.=,ENST00000534170,;DNAAF3,5_prime_UTR_variant,,ENST00000455045,NM_001256716.1;snoU13,upstream_gene_variant,,ENST00000459370,;CTD-2587H24.5,intron_variant,,ENST00000591665,;DNAAF3,non_coding_transcript_exon_variant,,ENST00000528476,;DNAAF3,upstream_gene_variant,,ENST00000527166,;DNAAF3,upstream_gene_variant,,ENST00000527292,;DNAAF3,synonymous_variant,p.=,ENST00000528412,;DNAAF3,synonymous_variant,p.=,ENST00000534214,;DNAAF3,upstream_gene_variant,,ENST00000533527,;DNAAF3,upstream_gene_variant,,ENST00000526959,;DNAAF3,downstream_gene_variant,,ENST00000586877,;	A	ENST00000527223	Transcript	synonymous_variant	392/2228	390/1827	130/608	R	cgG/cgT		1		-1	DNAAF3	HGNC	HGNC:30492	protein_coding	YES	CCDS58680.1	ENSP00000436975		A0A0C4DH81	UPI00000722C7	NM_001256714.1			3/12		hmmpanther:PTHR22118:SF14,hmmpanther:PTHR22118,Pfam_domain:PF14737																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	55	55165900	55165900	C	A	1	0	0	0	0	0	0	0	1	4408	842	30	2		2	DNAAF3	19	55165900	Silent	SNP	C	C3N-00556_TP	151602	55165900	3451716	474	17828											
UBE2S	0	.	GRCh38	chr19	55404317	55404317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgtcggatgcccagctcagCcgtccagtccctcttgagca	6	9	11	15	2	2	1	1	1	1	0	5	2	4	2	4	1	4	2	4	1	0	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.313G>A	p.Ala105Thr	p.A105T	ENST00000264552	3/4	295	251	44	293	293	0	strelka-varscan-mutect	UBE2S,missense_variant,p.Ala105Thr,ENST00000264552,NM_014501.2;UBE2S,missense_variant,p.Ala105Thr,ENST00000587845,;UBE2S,missense_variant,p.Gly79Asp,ENST00000589978,;RPL28,downstream_gene_variant,,ENST00000560055,;UBE2S,upstream_gene_variant,,ENST00000592570,;	T	ENST00000264552	Transcript	missense_variant	501/2548	313/669	105/222	A/T	Gct/Act		1		-1	UBE2S	HGNC	HGNC:17895	protein_coding	YES	CCDS33114.1	ENSP00000264552	Q16763		UPI000000122B	NM_014501.2	deleterious(0)		3/4		Gene3D:3.10.110.10,Pfam_domain:PF00179,PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF57,SMART_domains:SM00212,Superfamily_domains:SSF54495																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	55404317	55404317	C	T	1	0	0	0	0	1	0	0	0	17395	739	26	3		3	UBE2S	19	55404317	Missense_Mutation	SNP	C	C3N-00556_TP	238417	55404317	3213299	475	17829											
SSC5D	0	.	GRCh38	chr19	55489961	55489961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagggctgttgctggagctGagccccagcacggaggagcc	7	5	16	13	1	0	1	0	1	0	0	0	4	0	4	4	4	5	5	4	4	0	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.441G>A	p.=	p.L147L	ENST00000389623	4/14	153	143	10	151	151	0	strelka-varscan-mutect	SSC5D,synonymous_variant,p.=,ENST00000389623,NM_001144950.1;SSC5D,synonymous_variant,p.=,ENST00000587166,NM_001195267.1;NAT14,downstream_gene_variant,,ENST00000205194,NM_020378.3;NAT14,downstream_gene_variant,,ENST00000591590,;NAT14,downstream_gene_variant,,ENST00000588985,;SSC5D,downstream_gene_variant,,ENST00000594321,;NAT14,downstream_gene_variant,,ENST00000587400,;SSC5D,upstream_gene_variant,,ENST00000589020,;NAT14,downstream_gene_variant,,ENST00000592719,;SSC5D,non_coding_transcript_exon_variant,,ENST00000588254,;	A	ENST00000389623	Transcript	synonymous_variant	464/4845	441/4722	147/1573	L	ctG/ctA		1		1	SSC5D	HGNC	HGNC:26641	protein_coding	YES	CCDS46196.1	ENSP00000374274	A1L4H1		UPI000192952A	NM_001144950.1			4/14		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	55489961	55489961	G	A	1	0	0	0	0	0	0	0	1	15558	1277	45	3		3	SSC5D	19	55489961	Silent	SNP	G	C3N-00556_TP	85644	55489961	3127655	476	17830											
ZNF524	0	.	GRCh38	chr19	55602711	55602711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggagcgcccgtaccagtGccccatctgccggctgcgct	4	6	15	16	4	1	0	0	0	1	0	1	1	1	1	5	3	5	3	5	3	1	1			C3N-00556_TP	C3N-00556_NB	G	G																c.599G>A	p.Cys200Tyr	p.C200Y	ENST00000591046	1/1	288	210	78	210	209	1	strelka-varscan-mutect	ZNF524,missense_variant,p.Cys200Tyr,ENST00000591046,;ZNF524,missense_variant,p.Cys200Tyr,ENST00000301073,NM_153219.3;FIZ1,upstream_gene_variant,,ENST00000590714,;ZNF865,upstream_gene_variant,,ENST00000568956,NM_001195605.1;FIZ1,upstream_gene_variant,,ENST00000221665,NM_032836.2;FIZ1,upstream_gene_variant,,ENST00000587678,;ZNF524,downstream_gene_variant,,ENST00000589521,;FIZ1,upstream_gene_variant,,ENST00000592585,;FIZ1,upstream_gene_variant,,ENST00000587414,;	A	ENST00000591046	Transcript	missense_variant	833/1260	599/795	200/264	C/Y	tGc/tAc	COSM4081625	1		1	ZNF524	HGNC	HGNC:28322	protein_coding	YES	CCDS12929.1	ENSP00000466907	Q96C55		UPI00000735DD		deleterious(0)		1/1		Gene3D:3.30.160.60,Pfam_domain:PF13894,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24409,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE		SNV			1	1										PASS		.	.												A	3	1	55	55602711	55602711	G	A	1	0	0	0	0	1	0	0	0	18538	1319	46	3		3	ZNF524	19	55602711	Missense_Mutation	SNP	G	C3N-00556_TP	112750	55602711	3014905	477	17831											
ZNF787	0	.	GRCh38	chr19	56088727	56088727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagtcggggcaggtgtaggGcttctcgcccgtgtggatgc	4	9	18	10	3	1	0	0	0	1	0	3	1	1	1	1	5	1	4	1	5	1	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.445C>T	p.Pro149Ser	p.P149S	ENST00000610935	3/3	103	84	19	135	135	0	strelka-varscan-mutect	ZNF787,missense_variant,p.Pro149Ser,ENST00000610935,NM_001002836.3;ZNF787,downstream_gene_variant,,ENST00000586787,;	A	ENST00000610935	Transcript	missense_variant	564/1925	445/1149	149/382	P/S	Ccc/Tcc		1		-1	ZNF787	HGNC	HGNC:26998	protein_coding	YES	CCDS42634.1	ENSP00000478557		A0A087WUD1	UPI0001596896	NM_001002836.3	deleterious(0)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24408:SF1,hmmpanther:PTHR24408,Gene3D:3.30.160.60,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	56088727	56088727	G	A	1	0	0	0	0	1	0	0	0	18743	1203	42	3		3	ZNF787	19	56088727	Missense_Mutation	SNP	G	C3N-00556_TP	486016	56088727	2528889	478	17832											
ZSCAN5B	0	.	GRCh38	chr19	56192947	56192947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtctcagggttcctgtcgtGatttccaagttgagtttctg	6	16	11	8	1	2	2	1	2	2	0	6	2	4	2	2	1	0	3	2	1	1	4	rs374507565		C3N-00556_TP	C3N-00556_NB	G	G																c.106C>T	p.His36Tyr	p.H36Y	ENST00000586855	2/5	148	140	8	166	166	0	varscan-mutect	ZSCAN5B,missense_variant,p.His36Tyr,ENST00000586855,;ZSCAN5B,missense_variant,p.His36Tyr,ENST00000358992,NM_001080456.2;ZSCAN5B,missense_variant,p.His36Tyr,ENST00000589938,;ZSCAN5B,missense_variant,p.His36Tyr,ENST00000587032,;	A	ENST00000586855	Transcript	missense_variant	420/2059	106/1488	36/495	H/Y	Cac/Tac	rs374507565	1		-1	ZSCAN5B	HGNC	HGNC:34246	protein_coding	YES	CCDS46203.1	ENSP00000466072	A6NJL1		UPI000059D7BA		tolerated(0.06)		2/5		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF164,Superfamily_domains:SSF47353																	MODERATE	1	SNV	5			1										PASS		rs374507565	.												A	3	1	55	56192947	56192947	G	A	1	0	0	0	0	1	0	0	0	18838	1290	45	3		3	ZSCAN5B	19	56192947	Missense_Mutation	SNP	G	C3N-00556_TP	104220	56192947	2424669	479	17833											
ZNF471	0	.	GRCh38	chr19	56525267	56525267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagaattcatacaggagaGaaaccttacaaatgtggtgt	16	9	11	5	0	1	2	1	0	0	2	1	5	1	3	1	3	3	0	1	3	5	3	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1200G>C	p.Glu400Asp	p.E400D	ENST00000308031	5/5	198	187	11	287	287	0	strelka-varscan-mutect	ZNF471,missense_variant,p.Glu400Asp,ENST00000308031,NM_001321768.1,NM_020813.2;ZNF471,3_prime_UTR_variant,,ENST00000591537,;ZNF471,intron_variant,,ENST00000593197,;	C	ENST00000308031	Transcript	missense_variant	1333/6287	1200/1881	400/626	E/D	gaG/gaC		1		1	ZNF471	HGNC	HGNC:23226	protein_coding	YES	CCDS12945.1	ENSP00000309161	Q9BX82	A0A024R4Q9	UPI0000073465	NM_001321768.1,NM_020813.2	deleterious(0)		5/5		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF309,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	56525267	56525267	G	C	1	0	0	0	0	1	0	0	0	18502	933	33	4		4	ZNF471	19	56525267	Missense_Mutation	SNP	G	C3N-00556_TP	332320	56525267	2092349	480	17834											
ZFP28	0	.	GRCh38	chr19	56554193	56554193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcccgacaccagagatgtCacactggcaagaagccctat	12	7	9	13	1	1	2	1	0	0	2	1	4	1	2	3	1	2	1	3	1	3	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1408C>T	p.His470Tyr	p.H470Y	ENST00000301318	8/8	172	158	14	230	230	0	strelka-varscan-mutect	ZFP28,missense_variant,p.His470Tyr,ENST00000301318,NM_020828.1;ZFP28,downstream_gene_variant,,ENST00000591844,NM_001308440.1;AC007228.11,intron_variant,,ENST00000596587,;ZFP28,downstream_gene_variant,,ENST00000588163,;	T	ENST00000301318	Transcript	missense_variant	1479/4096	1408/2607	470/868	H/Y	Cac/Tac		1		1	ZFP28	HGNC	HGNC:17801	protein_coding	YES	CCDS12946.1	ENSP00000301318	Q8NHY6		UPI000006D90E	NM_020828.1	deleterious(0.02)		8/8		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF212,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	56554193	56554193	C	T	1	0	0	0	0	1	0	0	0	18217	826	29	3		3	ZFP28	19	56554193	Missense_Mutation	SNP	C	C3N-00556_TP	28926	56554193	2063423	481	17835											
MGME1	0	.	GRCh38	chr20	17975876	17975876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaaccttaaactatatagGtctgctggactgtgtggctg	10	13	11	7	0	1	1	0	1	1	0	1	2	1	2	1	3	3	2	1	3	6	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.704G>A	p.Gly235Asp	p.G235D	ENST00000377710	3/5	225	211	14	237	237	0	strelka-mutect	MGME1,missense_variant,p.Gly235Asp,ENST00000377710,NM_052865.2;MGME1,missense_variant,p.Gly155Asp,ENST00000377709,;MGME1,intron_variant,,ENST00000377704,;MGME1,intron_variant,,ENST00000467391,;MGME1,intron_variant,,ENST00000463219,;OVOL2,intron_variant,,ENST00000486776,;	A	ENST00000377710	Transcript	missense_variant	992/2336	704/1035	235/344	G/D	gGt/gAt		1		1	MGME1	HGNC	HGNC:16205	protein_coding	YES	CCDS13131.1	ENSP00000366939	Q9BQP7		UPI00001285E8	NM_052865.2	deleterious(0)		3/5		HAMAP:MF_03030,hmmpanther:PTHR31340,Pfam_domain:PF12705,Superfamily_domains:SSF52980																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	17975876	17975876	G	A	1	0	0	0	0	1	0	0	0	9513	1261	44	3		3	MGME1	20	17975876	Missense_Mutation	SNP	G	C3N-00556_TP		17975876	46468291	482	17836											
NDRG3	0	.	GRCh38	chr20	36707008	36707008	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaagtttcttgtaccattCtgtcaacagaagacagaaaa	15	11	8	7	0	3	3	1	0	2	3	3	4	3	4	1	1	2	2	1	1	6	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.58-1G>C		p.X20_splice	ENST00000349004		115	105	10	100	100	0	strelka-varscan-mutect	NDRG3,splice_acceptor_variant,,ENST00000373803,;NDRG3,splice_acceptor_variant,,ENST00000349004,NM_032013.3;NDRG3,splice_acceptor_variant,,ENST00000373773,;NDRG3,intron_variant,,ENST00000359675,NM_022477.3;	G	ENST00000349004	Transcript	splice_acceptor_variant	-/2964	58/1128	20/375				1		-1	NDRG3	HGNC	HGNC:14462	protein_coding	YES	CCDS13285.1	ENSP00000345292	Q9UGV2		UPI000012FEDF	NM_032013.3				2/15																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	55	36707008	36707008	C	G	1	0	0	0	0	0	0	1	0	10274	927	32	4		4	NDRG3	20	36707008	Splice_Site	SNP	C	C3N-00556_TP	18731132	36707008	27737159	483	17837											
KIAA1755	0	.	GRCh38	chr20	38219710	38219710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttggaagcggtgaccaGaacatgaagctgctcgtcca	10	8	13	10	2	0	3	0	2	0	1	2	4	1	4	2	2	4	4	2	2	3	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2476C>A	p.Leu826Met	p.L826M	ENST00000279024	11/14	282	251	31	211	211	0	strelka-varscan-mutect	KIAA1755,missense_variant,p.Leu826Met,ENST00000279024,NM_001029864.1;KIAA1755,missense_variant,p.Leu125Met,ENST00000435901,;KIAA1755,non_coding_transcript_exon_variant,,ENST00000484362,;KIAA1755,upstream_gene_variant,,ENST00000460881,;KIAA1755,upstream_gene_variant,,ENST00000487506,;	T	ENST00000279024	Transcript	missense_variant	2748/6429	2476/3603	826/1200	L/M	Ctg/Atg		1		-1	KIAA1755	HGNC	HGNC:29372	protein_coding	YES	CCDS33467.1	ENSP00000279024	Q5JYT7		UPI000041AADF	NM_001029864.1	deleterious(0)		11/14		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF125																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	55	38219710	38219710	G	T	1	0	0	0	0	1	0	0	0	8128	933	33	2		2	KIAA1755	20	38219710	Missense_Mutation	SNP	G	C3N-00556_TP	1512702	38219710	26224457	484	17838											
SLC12A5	0	.	GRCh38	chr20	46043255	46043255	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctatcgacatggaccaccCttatgtcttcagtgatatga	10	13	7	11	1	2	2	1	2	1	0	4	4	3	3	3	1	0	0	3	1	3	4			C3N-00556_TP	C3N-00556_NB	C	C																c.1238C>A	p.Pro413His	p.P413H	ENST00000454036	9/26	234	152	82	197	195	2	strelka-varscan-mutect	SLC12A5,missense_variant,p.Pro390His,ENST00000243964,NM_020708.4;SLC12A5,missense_variant,p.Pro413His,ENST00000454036,NM_001134771.1;SLC12A5,missense_variant,p.Pro390His,ENST00000616201,;SLC12A5,3_prime_UTR_variant,,ENST00000616933,;SLC12A5,intron_variant,,ENST00000616202,;SLC12A5,intron_variant,,ENST00000626937,;SLC12A5,non_coding_transcript_exon_variant,,ENST00000608594,;SLC12A5,intron_variant,,ENST00000539566,;SLC12A5,downstream_gene_variant,,ENST00000629054,;SLC12A5,downstream_gene_variant,,ENST00000625683,;SLC12A5,downstream_gene_variant,,ENST00000372315,;SLC12A5,downstream_gene_variant,,ENST00000622711,;SLC12A5,upstream_gene_variant,,ENST00000626144,;	A	ENST00000454036	Transcript	missense_variant	1314/3593	1238/3420	413/1139	P/H	cCt/cAt	COSM3547175,COSM4958780	1		1	SLC12A5	HGNC	HGNC:13818	protein_coding	YES	CCDS46610.1	ENSP00000387694	Q9H2X9		UPI00015F4605	NM_001134771.1	deleterious(0.01)		9/26		hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	55	46043255	46043255	C	A	1	0	0	0	0	1	0	0	0	14651	681	24	2		2	SLC12A5	20	46043255	Missense_Mutation	SNP	C	C3N-00556_TP	7823545	46043255	18400912	485	17839											
DDX27	0	.	GRCh38	chr20	49219378	49219378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacttgcgcaaagacgacGaggaggctgcgaaaagttaa	14	6	14	7	4	0	1	0	0	0	1	0	5	0	2	0	3	3	4	0	3	5	3	rs745864215		C3N-00556_TP	C3N-00556_NB	G	G																c.23G>T	p.Arg8Leu	p.R8L	ENST00000622530	1/21	95	88	7	83	83	0	strelka-varscan-mutect	DDX27,missense_variant,p.Arg8Leu,ENST00000622530,NM_017895.7;DDX27,missense_variant,p.Arg8Leu,ENST00000371764,;DDX27,upstream_gene_variant,,ENST00000618172,;DDX27,non_coding_transcript_exon_variant,,ENST00000484427,;DDX27,upstream_gene_variant,,ENST00000462328,;	T	ENST00000622530	Transcript	missense_variant	84/2693	23/2391	8/796	R/L	cGa/cTa	rs745864215	1		1	DDX27	HGNC	HGNC:15837	protein_coding	YES	CCDS13416.1	ENSP00000483495	Q96GQ7		UPI0000140DCA	NM_017895.7	deleterious_low_confidence(0.03)		1/21																			MODERATE	1	SNV	1			1										PASS		rs745864215	.												T	3	4	55	49219378	49219378	G	T	1	0	0	0	0	1	0	0	0	4156	1058	37	1		1	DDX27	20	49219378	Missense_Mutation	SNP	G	C3N-00556_TP	3176123	49219378	15224789	486	17840											
ZNFX1	0	.	GRCh38	chr20	49270638	49270638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtcttcaaagctttggaGaagttccaaaataccttccc	11	12	7	11	0	2	1	1	0	1	1	4	2	4	1	3	2	2	2	3	2	5	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1174C>T	p.Leu392Phe	p.L392F	ENST00000396105	3/14	137	128	9	188	188	0	strelka-varscan-mutect	ZNFX1,missense_variant,p.Leu392Phe,ENST00000396105,NM_021035.2;ZNFX1,missense_variant,p.Leu392Phe,ENST00000371752,;ZNFX1,missense_variant,p.Leu392Phe,ENST00000371754,;ZNFX1,missense_variant,p.Leu392Phe,ENST00000371744,;ZNFX1,missense_variant,p.Leu196Phe,ENST00000455070,;	A	ENST00000396105	Transcript	missense_variant	1421/7371	1174/5757	392/1918	L/F	Ctc/Ttc		1		-1	ZNFX1	HGNC	HGNC:29271	protein_coding	YES	CCDS13417.1	ENSP00000379412	Q9P2E3		UPI000012DD83	NM_021035.2	deleterious(0.02)		3/14		hmmpanther:PTHR10887:SF379,hmmpanther:PTHR10887																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	49270638	49270638	G	A	1	0	0	0	0	1	0	0	0	18798	942	33	3		3	ZNFX1	20	49270638	Missense_Mutation	SNP	G	C3N-00556_TP	51260	49270638	15173529	487	17841											
FAM210B	0	.	GRCh38	chr20	56366098	56366098	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacatgcctgcaatcctgctGaaactcggatttaaagagtc	12	10	9	10	1	0	2	0	1	0	1	3	4	1	3	2	1	4	2	2	1	4	2			C3N-00556_TP	C3N-00556_NB	G	G																c.390G>A	p.=	p.L130L	ENST00000371384	3/3	219	205	14	219	219	0	varscan-mutect	FAM210B,synonymous_variant,p.=,ENST00000371384,NM_080821.2;AURKA,downstream_gene_variant,,ENST00000347343,NM_003600.2;AURKA,downstream_gene_variant,,ENST00000395914,NM_198434.1,NM_198433.1;AURKA,downstream_gene_variant,,ENST00000312783,NM_198436.1;AURKA,downstream_gene_variant,,ENST00000395913,;AURKA,downstream_gene_variant,,ENST00000395911,NM_001323304.1;AURKA,downstream_gene_variant,,ENST00000395915,NM_198435.1,NM_198437.1;AURKA,downstream_gene_variant,,ENST00000371356,;AURKA,downstream_gene_variant,,ENST00000395907,;	A	ENST00000371384	Transcript	synonymous_variant	481/3046	390/579	130/192	L	ctG/ctA	COSM4842285	1		1	FAM210B	HGNC	HGNC:16102	protein_coding	YES	CCDS13450.1	ENSP00000360437	Q96KR6		UPI000003B117	NM_080821.2			3/3		Pfam_domain:PF06916,hmmpanther:PTHR21377,hmmpanther:PTHR21377:SF0											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	55	56366098	56366098	G	A	1	0	0	0	0	0	0	0	1	5397	1277	45	3		3	FAM210B	20	56366098	Silent	SNP	G	C3N-00556_TP	7095460	56366098	8078069	488	17842											
TFAP2C	0	.	GRCh38	chr20	56631562	56631562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgggctggaggcgggcgcgGtgagcgcccgcagggatgcc	4	3	21	13	6	0	1	0	1	0	0	0	3	0	3	3	6	2	2	3	6	0	0	rs771721373		C3N-00556_TP	C3N-00556_NB	G	G																c.406G>A	p.Val136Met	p.V136M	ENST00000201031	2/7	133	118	15	134	134	0	strelka-varscan-mutect	TFAP2C,missense_variant,p.Val136Met,ENST00000201031,NM_003222.3;TFAP2C,downstream_gene_variant,,ENST00000416606,;	A	ENST00000201031	Transcript	missense_variant	649/2866	406/1353	136/450	V/M	Gtg/Atg	rs771721373	1		1	TFAP2C	HGNC	HGNC:11744	protein_coding	YES	CCDS13454.1	ENSP00000201031	Q92754		UPI0000125BC8	NM_003222.3	tolerated(0.36)		2/7		hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF9																	MODERATE	1	SNV	1			1										PASS		rs771721373	.												A	3	1	55	56631562	56631562	G	A	1	0	0	0	0	1	0	0	0	16222	1261	44	3		3	TFAP2C	20	56631562	Missense_Mutation	SNP	G	C3N-00556_TP	265464	56631562	7812605	489	17843											
FAM217B	0	.	GRCh38	chr20	59944035	59944035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaagtaccccacgcttcttCccagccgagaagcagcctca	10	6	7	18	2	2	1	1	0	1	1	3	2	3	1	6	0	4	3	6	0	3	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.92C>T	p.Ser31Phe	p.S31F	ENST00000358293	5/5	231	218	13	222	222	0	strelka-varscan-mutect	FAM217B,missense_variant,p.Ser31Phe,ENST00000358293,NM_001190826.1;FAM217B,missense_variant,p.Ser31Phe,ENST00000360816,NM_001190827.1,NM_022106.2;FAM217B,missense_variant,p.Ser31Phe,ENST00000421092,;PPP1R3D,upstream_gene_variant,,ENST00000370996,NM_006242.3;FAM217B,intron_variant,,ENST00000469084,;	T	ENST00000358293	Transcript	missense_variant	507/5152	92/1152	31/383	S/F	tCc/tTc		1		1	FAM217B	HGNC	HGNC:16170	protein_coding	YES	CCDS13484.1	ENSP00000351040	Q9NTX9		UPI0000128624	NM_001190826.1	deleterious(0.04)		5/5		hmmpanther:PTHR22145,hmmpanther:PTHR22145:SF3																	MODERATE	1	SNV	2			1										PASS		rs1204849635	.												T	3	4	55	59944035	59944035	C	T	1	0	0	0	0	1	0	0	0	5407	855	30	3		3	FAM217B	20	59944035	Missense_Mutation	SNP	C	C3N-00556_TP	3312473	59944035	4500132	490	17844											
PSMA7	0	.	GRCh38	chr20	62136892	62136892	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtttcttcttttcgttttCttctttttctttttcaattt	2	30	2	7	1	6	0	1	0	5	0	7	0	6	0	0	0	0	2	0	0	1	13	rs769374594		C3N-00556_TP	C3N-00556_NB	C	C																c.712G>C	p.Glu238Gln	p.E238Q	ENST00000370873	7/7	249	224	25	196	196	0	strelka-varscan-mutect	PSMA7,missense_variant,p.Glu238Gln,ENST00000370873,NM_002792.3;PSMA7,missense_variant,p.Glu168Gln,ENST00000370861,;PSMA7,missense_variant,p.Glu177Gln,ENST00000442551,;LSM14B,downstream_gene_variant,,ENST00000279068,NM_144703.2;PSMA7,downstream_gene_variant,,ENST00000370858,;PSMA7,non_coding_transcript_exon_variant,,ENST00000484488,;PSMA7,downstream_gene_variant,,ENST00000486193,;	G	ENST00000370873	Transcript	missense_variant	839/996	712/747	238/248	E/Q	Gaa/Caa	rs769374594	1		-1	PSMA7	HGNC	HGNC:9536	protein_coding	YES	CCDS13489.1	ENSP00000359910	O14818	A0A0K0K1K4	UPI00000354E4	NM_002792.3	tolerated(0.39)		7/7		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11599:SF40,hmmpanther:PTHR11599,Gene3D:3.60.20.10																	MODERATE	1	SNV	1			1										PASS		rs769374594	.												G	3	3	55	62136892	62136892	C	G	1	0	0	0	0	1	0	0	0	12823	922	32	4		4	PSMA7	20	62136892	Missense_Mutation	SNP	C	C3N-00556_TP	2192857	62136892	2307275	491	17845											
KRTAP19-5	0	.	GRCh38	chr21	30502026	30502026	+	Frame_Shift_Del	DEL	C	C	-																															atccacagccatagccatagCccaggtcatcgaagcctccg																								rs150866063		C3N-00556_TP	C3N-00556_NB	C	C																c.65delG	p.Gly22AlafsTer56	p.G22Afs*56	ENST00000334151	1/1	329	294	35	368	368	0	sindel-varindel-pindel	KRTAP19-5,frameshift_variant,p.Gly22AlafsTer56,ENST00000334151,NM_181611.1;KRTAP19-4,upstream_gene_variant,,ENST00000334058,NM_181610.1;	-	ENST00000334151	Transcript	frameshift_variant	92/461	65/219	22/72	G/X	gGc/gc	rs150866063,COSM3963902,COSM4101122	1		-1	KRTAP19-5	HGNC	HGNC:18940	protein_coding	YES	CCDS13597.1	ENSP00000334985	Q3LI72		UPI00001A9E50	NM_181611.1			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR38140:SF4,hmmpanther:PTHR38140,Pfam_domain:PF11759											0,1,1						HIGH	1	deletion			0,1,1	1										PASS		.	.												-	7	5	55	30502026	30502026	C	-	1	0	1	0	1	0	0	0	0	8416	739	26	0		0	KRTAP19-5	21	30502026	Frame_Shift_Del	DEL	C	C3N-00556_TP		30502026	16207957	492	17846											
SCAF4	0	.	GRCh38	chr21	31671461	31671461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaacggatgaggtagcctCagcaggtaactcttcagaag	12	9	11	9	1	4	2	3	1	1	1	4	3	4	3	1	3	4	3	1	3	4	4			C3N-00556_TP	C3N-00556_NB	C	C																c.3382G>A	p.Glu1128Lys	p.E1128K	ENST00000286835	20/20	158	146	12	205	205	0	strelka-varscan-mutect	SCAF4,missense_variant,p.Glu1128Lys,ENST00000286835,NM_020706.2;SCAF4,missense_variant,p.Glu1106Lys,ENST00000399804,NM_001145445.1;SCAF4,missense_variant,p.Glu1113Lys,ENST00000434667,NM_001145444.1;SOD1,downstream_gene_variant,,ENST00000270142,NM_000454.4;SOD1,downstream_gene_variant,,ENST00000389995,;AP000254.8,upstream_gene_variant,,ENST00000609934,;SOD1,downstream_gene_variant,,ENST00000470944,;SOD1,downstream_gene_variant,,ENST00000476106,;	T	ENST00000286835	Transcript	missense_variant	3765/4193	3382/3444	1128/1147	E/K	Gag/Aag	COSM1307729	1		-1	SCAF4	HGNC	HGNC:19304	protein_coding	YES	CCDS33537.1	ENSP00000286835	O95104		UPI0000206D66	NM_020706.2	deleterious_low_confidence(0)		20/20													1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	55	31671461	31671461	C	T	1	0	0	0	0	1	0	0	0	14134	835	29	3		3	SCAF4	21	31671461	Missense_Mutation	SNP	C	C3N-00556_TP	1169435	31671461	15038522	493	17847											
URB1	0	.	GRCh38	chr21	32316814	32316814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgactgccagggaagcggCagcatatacggggcctggcg	9	5	16	11	3	0	1	0	1	0	0	0	2	0	2	2	5	4	2	2	5	3	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.6286G>T	p.Ala2096Ser	p.A2096S	ENST00000382751	38/39	46	37	9	83	83	0	strelka-varscan-mutect	URB1,missense_variant,p.Ala2096Ser,ENST00000382751,NM_014825.2;MRAP,downstream_gene_variant,,ENST00000399784,NM_178817.3;MRAP,downstream_gene_variant,,ENST00000303645,;MRAP,downstream_gene_variant,,ENST00000339944,NM_206898.1;MRAP,downstream_gene_variant,,ENST00000497833,;	A	ENST00000382751	Transcript	missense_variant	6402/10832	6286/6816	2096/2271	A/S	Gcc/Tcc		1		-1	URB1	HGNC	HGNC:17344	protein_coding	YES	CCDS46645.1	ENSP00000372199	O60287		UPI0000185F65	NM_014825.2	tolerated(0.32)		38/39		hmmpanther:PTHR13500																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	32316814	32316814	C	A	1	0	0	0	0	1	0	0	0	17554	710	25	2		2	URB1	21	32316814	Missense_Mutation	SNP	C	C3N-00556_TP	645353	32316814	14393169	494	17848											
RUNX1	0	.	GRCh38	chr21	35048874	35048874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtgggtacgaaggaaatGactcaaatatgctgtctgaa	14	10	11	6	1	2	2	1	2	1	0	2	4	2	3	0	2	2	2	0	2	6	2			C3N-00556_TP	C3N-00556_NB	G	G																c.26C>T	p.Ser9Leu	p.S9L	ENST00000300305	1/8	398	367	31	419	419	0	strelka-varscan-mutect	RUNX1,missense_variant,p.Ser9Leu,ENST00000300305,;RUNX1,missense_variant,p.Ser9Leu,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Ser9Leu,ENST00000475045,;RUNX1,missense_variant,p.Ser9Leu,ENST00000455571,;RUNX1,missense_variant,p.Ser9Leu,ENST00000416754,;RUNX1,missense_variant,p.Ser9Leu,ENST00000482318,;	A	ENST00000300305	Transcript	missense_variant	471/6222	26/1443	9/480	S/L	tCa/tTa	COSM1030466	1		-1	RUNX1	HGNC	HGNC:10471	protein_coding	YES	CCDS13639.1	ENSP00000300305	Q01196		UPI000015FE6A		deleterious_low_confidence(0)		1/8		PIRSF_domain:PIRSF009374,hmmpanther:PTHR11950											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	55	35048874	35048874	G	A	1	0	0	0	0	1	0	0	0	14007	1294	45	3		3	RUNX1	21	35048874	Missense_Mutation	SNP	G	C3N-00556_TP	2732060	35048874	11661109	495	17849											
DIP2A	0	.	GRCh38	chr21	46545257	46545257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggattgcttggaatcaCgaagaatgtgtttgaggttt	10	15	12	4	1	1	2	1	1	0	1	1	5	1	4	0	3	1	3	0	3	4	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2297C>T	p.Thr766Met	p.T766M	ENST00000417564	19/38	38	33	5	59	59	0	strelka-varscan-mutect	DIP2A,missense_variant,p.Thr762Met,ENST00000400274,NM_001146116.1;DIP2A,missense_variant,p.Thr766Met,ENST00000417564,NM_015151.3;DIP2A,missense_variant,p.Thr766Met,ENST00000457905,NM_206889.2;DIP2A,missense_variant,p.Thr766Met,ENST00000435722,NM_206891.2,NM_206890.2;DIP2A,missense_variant,p.Thr723Met,ENST00000466639,NM_001146115.1;DIP2A,downstream_gene_variant,,ENST00000473752,;DIP2A,non_coding_transcript_exon_variant,,ENST00000494435,;DIP2A,non_coding_transcript_exon_variant,,ENST00000480553,;	T	ENST00000417564	Transcript	missense_variant	2318/6967	2297/4716	766/1571	T/M	aCg/aTg		1		1	DIP2A	HGNC	HGNC:17217	protein_coding	YES	CCDS46655.1	ENSP00000392066	Q14689		UPI00001B2E47	NM_015151.3	deleterious(0)		19/38		Gene3D:2.30.38.10,Pfam_domain:PF00501,hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF24,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	46545257	46545257	C	T	1	0	0	0	0	1	0	0	0	4332	536	19	1		1	DIP2A	21	46545257	Missense_Mutation	SNP	C	C3N-00556_TP	11496383	46545257	164726	496	17850											
RIMBP3	0	.	GRCh38	chr22	18607092	18607092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggagtgttggcccccGtccccagctgttgggggcca	3	9	16	13	1	0	0	0	0	0	0	1	1	1	1	5	5	1	4	5	5	0	2	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.4343C>A	p.Thr1448Lys	p.T1448K	ENST00000619918	1/1	82	70	12	108	108	0	varscan-mutect	RIMBP3,missense_variant,p.Thr1448Lys,ENST00000619918,NM_015672.1;SCARNA17,downstream_gene_variant,,ENST00000614296,;RN7SKP131,upstream_gene_variant,,ENST00000410698,;	T	ENST00000619918	Transcript	missense_variant	4828/6105	4343/4920	1448/1639	T/K	aCg/aAg		1		-1	RIMBP3	HGNC	HGNC:29344	protein_coding	YES	CCDS46665.1	ENSP00000483386	Q9UFD9		UPI0000237729	NM_015672.1	tolerated(0.28)		1/1		hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF21,Superfamily_domains:SSF50044																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	55	18607092	18607092	G	T	1	0	0	0	0	1	0	0	0	13539	1145	40	1		1	RIMBP3	22	18607092	Missense_Mutation	SNP	G	C3N-00556_TP		18607092	32211376	497	17851											
GAS2L1	0	.	GRCh38	chr22	29308147	29308147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgcgggctcggcggccaaGagcgtgcggccatttcgctc	5	7	15	14	7	0	1	0	0	0	1	4	1	0	1	2	4	2	2	2	4	1	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.42G>C	p.Lys14Asn	p.K14N	ENST00000618518	1/5	46	42	4	42	42	0	strelka-mutect	GAS2L1,missense_variant,p.Lys14Asn,ENST00000618518,;GAS2L1,missense_variant,p.Lys14Asn,ENST00000616432,;GAS2L1,missense_variant,p.Lys14Asn,ENST00000621062,NM_006478.4;GAS2L1,missense_variant,p.Lys14Asn,ENST00000611648,NM_152236.2;GAS2L1,missense_variant,p.Lys14Asn,ENST00000610653,;GAS2L1,missense_variant,p.Lys14Asn,ENST00000406549,NM_001278730.1;GAS2L1,missense_variant,p.Lys14Asn,ENST00000416823,;GAS2L1,missense_variant,p.Lys14Asn,ENST00000428622,;RASL10A,downstream_gene_variant,,ENST00000401450,;RASL10A,downstream_gene_variant,,ENST00000216101,NM_006477.4;GAS2L1,upstream_gene_variant,,ENST00000491016,;GAS2L1,downstream_gene_variant,,ENST00000487341,;	C	ENST00000618518	Transcript	missense_variant	1090/3382	42/2046	14/681	K/N	aaG/aaC		1		1	GAS2L1	HGNC	HGNC:16955	protein_coding	YES	CCDS74840.1	ENSP00000481012		A0A5E8	UPI0000073BD7		deleterious(0)		1/5																			MODERATE		SNV	2			1										PASS		.	.												C	3	2	55	29308147	29308147	G	C	1	0	0	0	0	1	0	0	0	6116	933	33	4		4	GAS2L1	22	29308147	Missense_Mutation	SNP	G	C3N-00556_TP	10701055	29308147	21510321	498	17852											
PRR14L	0	.	GRCh38	chr22	31715264	31715264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattcgtttctttcccatCaagttccctttcctgtgatg	5	17	6	13	1	2	1	1	1	1	0	6	1	5	1	4	0	0	2	4	0	1	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2575G>T	p.Asp859Tyr	p.D859Y	ENST00000327423	4/9	204	179	25	268	268	0	strelka-varscan-mutect	PRR14L,missense_variant,p.Asp859Tyr,ENST00000327423,NM_173566.2;PRR14L,upstream_gene_variant,,ENST00000330495,;PRR14L,downstream_gene_variant,,ENST00000461722,;PRR14L,upstream_gene_variant,,ENST00000492705,;PRR14L,upstream_gene_variant,,ENST00000431684,;	A	ENST00000327423	Transcript	missense_variant	2765/10826	2575/6456	859/2151	D/Y	Gat/Tat		1		-1	PRR14L	HGNC	HGNC:28738	protein_coding	YES	CCDS13900.2	ENSP00000331845	Q5THK1		UPI0000207582	NM_173566.2	deleterious(0.04)		4/9		hmmpanther:PTHR14522,hmmpanther:PTHR14522:SF0																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	55	31715264	31715264	C	A	1	0	0	0	0	1	0	0	0	12722	826	29	2		2	PRR14L	22	31715264	Missense_Mutation	SNP	C	C3N-00556_TP	2407117	31715264	19103204	499	17853											
ISX	0	.	GRCh38	chr22	35067275	35067275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccggagaagctgcggcctCaggctctgggctagaaaagc	9	5	14	13	2	2	2	1	0	1	2	2	3	2	2	3	4	3	3	3	4	4	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.188C>T	p.Ser63Leu	p.S63L	ENST00000308700	1/4	238	210	28	286	286	0	strelka-varscan-mutect	ISX,missense_variant,p.Ser63Leu,ENST00000308700,;ISX,missense_variant,p.Ser63Leu,ENST00000404699,NM_001303508.1;	T	ENST00000308700	Transcript	missense_variant	1140/3384	188/738	63/245	S/L	tCa/tTa		1		1	ISX	HGNC	HGNC:28084	protein_coding	YES	CCDS33640.1	ENSP00000311492	Q2M1V0		UPI00001BE8E5		tolerated(0.31)		1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR24329:SF362,hmmpanther:PTHR24329,Gene3D:1.10.10.60																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	35067275	35067275	C	T	1	0	0	0	0	1	0	0	0	7773	838	29	3		3	ISX	22	35067275	Missense_Mutation	SNP	C	C3N-00556_TP	3352011	35067275	15751193	500	17854											
MYH9	0	.	GRCh38	chr22	36320805	36320806	+	Frame_Shift_Del	DEL	GT	GT	-																															gccaactactcactcttcagGtgctctccagccccagacag																								novel		C3N-00556_TP	C3N-00556_NB	GT	GT																c.860_861delAC	p.His287ProfsTer74	p.H287Pfs*74	ENST00000216181	8/41	259	212	47	327	327	0	sindel-varindel-pindel	MYH9,frameshift_variant,p.His287ProfsTer74,ENST00000216181,NM_002473.5;MYH9,downstream_gene_variant,,ENST00000401701,;MYH9,non_coding_transcript_exon_variant,,ENST00000463027,;MYH9,non_coding_transcript_exon_variant,,ENST00000472210,;MYH9,upstream_gene_variant,,ENST00000477189,;	-	ENST00000216181	Transcript	frameshift_variant	1091-1092/7501	860-861/5883	287/1960	H/X	cAC/c		1		-1	MYH9	HGNC	HGNC:7579	protein_coding	YES	CCDS13927.1	ENSP00000216181	P35579	A0A024R1N1	UPI000012FB80	NM_002473.5			8/41		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF317,SMART_domains:SM00242,Superfamily_domains:SSF52540																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	55	36320805	36320805	GT	-	1	0	1	0	1	0	0	0	0	10042	1252	44	0		0	MYH9	22	36320805	Frame_Shift_Del	DEL	GT	C3N-00556_TP	1253530	36320805	14497663	501	17855											
BAIAP2L2	0	.	GRCh38	chr22	38088794	38088794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gagccagccgttctgggcctCgggcaccaacacctccacca	8	5	10	18	2	1	0	0	0	1	0	3	1	2	0	7	2	3	2	7	2	1	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1072G>C	p.Glu358Gln	p.E358Q	ENST00000381669	10/14	176	164	12	141	141	0	strelka-mutect	BAIAP2L2,missense_variant,p.Glu358Gln,ENST00000381669,NM_025045.5;BAIAP2L2,missense_variant,p.Glu358Gln,ENST00000332536,;BAIAP2L2,missense_variant,p.Glu49Gln,ENST00000428572,;SLC16A8,upstream_gene_variant,,ENST00000427592,;CTA-228A9.3,upstream_gene_variant,,ENST00000609162,;SLC16A8,upstream_gene_variant,,ENST00000469516,;	G	ENST00000381669	Transcript	missense_variant	1217/2146	1072/1590	358/529	E/Q	Gag/Cag		1		-1	BAIAP2L2	HGNC	HGNC:26203	protein_coding	YES	CCDS43018.1	ENSP00000371085	Q6UXY1		UPI00001AECDC	NM_025045.5	tolerated(0.06)		10/14		Gene3D:2.30.30.40,Pfam_domain:PF14604,PROSITE_profiles:PS50002,hmmpanther:PTHR14206,hmmpanther:PTHR14206:SF5,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	38088794	38088794	C	G	1	0	0	0	0	1	0	0	0	1455	893	31	4		4	BAIAP2L2	22	38088794	Missense_Mutation	SNP	C	C3N-00556_TP	1767989	38088794	12729674	502	17856											
CCDC134	0	.	GRCh38	chr22	41813315	41813315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcggcgatgtggtgctgcGcttcccgaggattgtgcact	4	12	14	11	4	0	0	0	0	0	0	2	3	1	1	1	3	3	3	1	3	0	3	rs753415480		C3N-00556_TP	C3N-00556_NB	G	G																c.362G>T	p.Arg121Leu	p.R121L	ENST00000255784	5/7	206	192	14	217	217	0	strelka-varscan-mutect	CCDC134,missense_variant,p.Arg121Leu,ENST00000255784,NM_024821.3;CCDC134,intron_variant,,ENST00000402061,NM_001304797.1;	T	ENST00000255784	Transcript	missense_variant	466/1270	362/690	121/229	R/L	cGc/cTc	rs753415480	1		1	CCDC134	HGNC	HGNC:26185	protein_coding	YES	CCDS33654.1	ENSP00000255784	Q9H6E4		UPI000007311E	NM_024821.3	deleterious(0)		5/7		hmmpanther:PTHR14735,Pfam_domain:PF15002																	MODERATE	1	SNV	1			1										PASS		rs753415480	.												T	3	4	55	41813315	41813315	G	T	1	0	0	0	0	1	0	0	0	2458	1087	38	1		1	CCDC134	22	41813315	Missense_Mutation	SNP	G	C3N-00556_TP	3724521	41813315	9005153	503	17857											
PHF21B	0	.	GRCh38	chr22	44893482	44893482	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctccaggaggccgctgtagGcagggttggctgtgcttctt	4	12	15	10	1	2	0	0	0	2	0	3	1	2	1	2	5	1	6	2	5	1	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.935C>G	p.Ala312Gly	p.A312G	ENST00000313237	7/13	183	173	10	179	179	0	strelka-mutect	PHF21B,missense_variant,p.Ala312Gly,ENST00000313237,NM_138415.4;PHF21B,missense_variant,p.Ala108Gly,ENST00000403565,NM_001284296.1;PHF21B,missense_variant,p.Ala258Gly,ENST00000396103,NM_001242450.1;PHF21B,missense_variant,p.Ala270Gly,ENST00000629843,NM_001135862.2;PHF21B,missense_variant,p.Ala108Gly,ENST00000414269,;	C	ENST00000313237	Transcript	missense_variant	1086/3671	935/1596	312/531	A/G	gCc/gGc		1		-1	PHF21B	HGNC	HGNC:25161	protein_coding	YES	CCDS14061.1	ENSP00000324403	Q96EK2	A0A0S2Z6R3	UPI0000072111	NM_138415.4	deleterious(0.01)		7/13		hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	44893482	44893482	G	C	1	0	0	0	0	1	0	0	0	11920	1203	42	4		4	PHF21B	22	44893482	Missense_Mutation	SNP	G	C3N-00556_TP	3080167	44893482	5924986	504	17858											
GTSE1	0	.	GRCh38	chr22	46329479	46329479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaagcacacgtggctgtagGatctgaaagcaggcctctga	12	7	13	9	1	2	3	0	2	2	1	2	4	2	4	1	3	2	4	1	3	3	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.2048G>A	p.Gly683Glu	p.G683E	ENST00000454366	11/12	457	432	25	512	512	0	strelka-varscan-mutect	GTSE1,missense_variant,p.Gly683Glu,ENST00000454366,NM_016426.6;TRMU,upstream_gene_variant,,ENST00000476901,;TRMU,upstream_gene_variant,,ENST00000486620,;GTSE1,non_coding_transcript_exon_variant,,ENST00000491863,;GTSE1,downstream_gene_variant,,ENST00000466510,;GTSE1,downstream_gene_variant,,ENST00000479645,;	A	ENST00000454366	Transcript	missense_variant	2260/3112	2048/2220	683/739	G/E	gGa/gAa		1		1	GTSE1	HGNC	HGNC:13698	protein_coding	YES	CCDS14074.2	ENSP00000415430	Q9NYZ3		UPI000021D19B	NM_016426.6	tolerated(0.54)		11/12		hmmpanther:PTHR21584,hmmpanther:PTHR21584:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	46329479	46329479	G	A	1	0	0	0	0	1	0	0	0	6766	1174	41	3		3	GTSE1	22	46329479	Missense_Mutation	SNP	G	C3N-00556_TP	1435997	46329479	4488989	505	17859											
PANX2	0	.	GRCh38	chr22	50177220	50177220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgttaccaccgggcggccGagggccgcgcgcccaagatc	7	4	14	16	6	0	1	0	0	0	1	1	2	0	1	5	3	1	1	5	3	2	1			C3N-00556_TP	C3N-00556_NB	G	G																c.508G>A	p.Glu170Lys	p.E170K	ENST00000395842	2/3	151	142	9	170	170	0	strelka-varscan-mutect	PANX2,missense_variant,p.Glu170Lys,ENST00000395842,NM_052839.3;PANX2,missense_variant,p.Glu170Lys,ENST00000159647,NM_001160300.1;PANX2,3_prime_UTR_variant,,ENST00000402472,;	A	ENST00000395842	Transcript	missense_variant	508/3051	508/2034	170/677	E/K	Gag/Aag	COSM4653536,COSM4653537,COSM4833950,COSM4833951	1		1	PANX2	HGNC	HGNC:8600	protein_coding	YES	CCDS14085.2	ENSP00000379183	Q96RD6		UPI0000E070D3	NM_052839.3	tolerated(0.17)		2/3		PROSITE_profiles:PS51013,hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF7,Pfam_domain:PF00876											1,1,1,1						MODERATE	1	SNV	2		1,1,1,1	1										PASS		rs1485043074	.												A	3	1	55	50177220	50177220	G	A	1	0	0	0	0	1	0	0	0	11502	1059	37	1		1	PANX2	22	50177220	Missense_Mutation	SNP	G	C3N-00556_TP	3847741	50177220	641248	506	17860											
SHANK3	0	.	GRCh38	chr22	50720464	50720464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacgagccgggcgcggccctCggcccgctgccgtatcccga	4	5	14	18	8	0	0	0	0	0	0	2	2	1	0	5	3	3	2	5	3	2	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.2628C>T	p.=	p.L876L	ENST00000262795	24/25	56	49	7	21	21	0	strelka-mutect	SHANK3,synonymous_variant,p.=,ENST00000262795,;SHANK3,synonymous_variant,p.=,ENST00000445220,NM_033517.1;SHANK3,non_coding_transcript_exon_variant,,ENST00000414786,;	T	ENST00000262795	Transcript	synonymous_variant	2628/7091	2628/5193	876/1730	L	ctC/ctT		1		1	SHANK3	HGNC	HGNC:14294	protein_coding	YES		ENSP00000489147		A0A0U1RQS4	UPI00071AFB18				24/25		hmmpanther:PTHR24135:SF4,hmmpanther:PTHR24135																	LOW	1	SNV	5			1										PASS		rs1158278512	.												T	2	4	55	50720464	50720464	C	T	1	0	0	0	0	0	0	0	1	14525	871	31	1		1	SHANK3	22	50720464	Silent	SNP	C	C3N-00556_TP	543244	50720464	98004	507	17861											
SLC25A6	0	.	GRCh38	chrX	1386725	1386725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatctctgaagatcttcctCcaacagtcgacggtgcccgt	8	11	8	14	3	3	2	1	1	2	1	7	3	5	2	3	1	2	0	3	1	2	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.774G>T	p.Trp258Cys	p.W258C	ENST00000381401	4/4	104	98	6	113	113	0	strelka-varscan-mutect	SLC25A6,missense_variant,p.Trp258Cys,ENST00000381401,NM_001636.3;IL3RA,downstream_gene_variant,,ENST00000331035,NM_002183.3;IL3RA,downstream_gene_variant,,ENST00000381469,NM_001267713.1;SLC25A6,downstream_gene_variant,,ENST00000475167,;SLC25A6,downstream_gene_variant,,ENST00000484026,;	A	ENST00000381401	Transcript	missense_variant	1489/2062	774/897	258/298	W/C	tgG/tgT		1		-1	SLC25A6	HGNC	HGNC:10992	protein_coding	YES	CCDS14114.1	ENSP00000370808	P12236	Q6I9V5	UPI00000015FE	NM_001636.3	deleterious(0.04)		4/4		PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF217,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	1386725	1386725	C	A	1	0	0	0	0	1	0	0	0	14783	856	30	2		2	SLC25A6	23	1386725	Missense_Mutation	SNP	C	C3N-00556_TP		1386725	154654170	508	17862											
ARSF	0	.	GRCh38	chrX	3110134	3110134	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtctctgcagggtcatTgacggccgagacctcatgcc	6	10	12	13	2	3	2	2	1	1	1	4	3	3	2	3	2	2	1	3	2	0	1	novel		C3N-00556_TP	C3N-00556_NB	T	T																c.1272T>G	p.Ile424Met	p.I424M	ENST00000381127	10/11	18	12	6	15	15	0	strelka-varscan-mutect	ARSF,missense_variant,p.Ile424Met,ENST00000381127,NM_001201538.1,NM_001201539.1;ARSF,missense_variant,p.Ile424Met,ENST00000359361,NM_004042.4;RP13-824C8.2,downstream_gene_variant,,ENST00000443851,;	G	ENST00000381127	Transcript	missense_variant	1493/2164	1272/1773	424/590	I/M	atT/atG		1		1	ARSF	HGNC	HGNC:721	protein_coding	YES	CCDS14123.1	ENSP00000370519	P54793		UPI00001A9629	NM_001201538.1,NM_001201539.1	deleterious(0.04)		10/11		hmmpanther:PTHR10342:SF220,hmmpanther:PTHR10342,Gene3D:3.40.720.10,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	3110134	3110134	T	G	1	0	0	0	0	1	0	0	0	1134	1800	63	5		5	ARSF	23	3110134	Missense_Mutation	SNP	T	C3N-00556_TP	1723409	3110134	152930761	509	17863											
TLR7	0	.	GRCh38	chrX	12886927	12886927	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agatatgataagtatgcaagGagttgcagattcaaaaacaa	19	9	9	4	0	1	3	1	1	0	2	1	4	1	4	0	1	3	4	0	1	7	5	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1419G>C	p.Arg473Ser	p.R473S	ENST00000380659	3/3	44	31	13	82	82	0	strelka-mutect	TLR7,missense_variant,p.Arg473Ser,ENST00000380659,NM_016562.3;	C	ENST00000380659	Transcript	missense_variant	1558/5011	1419/3150	473/1049	R/S	agG/agC		1		1	TLR7	HGNC	HGNC:15631	protein_coding	YES	CCDS14151.1	ENSP00000370034	Q9NYK1	B2R9N9	UPI000004BAF6	NM_016562.3	tolerated(0.07)		3/3		hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF222																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	12886927	12886927	G	C	1	0	0	0	0	1	0	0	0	16402	1165	41	4		4	TLR7	23	12886927	Missense_Mutation	SNP	G	C3N-00556_TP	9776793	12886927	143153968	510	17864											
FANCB	0	.	GRCh38	chrX	14864767	14864767	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatattcttaactggtttttGatgatctcagttgcacaaat	11	17	7	6	0	2	2	1	2	2	0	3	3	2	2	0	1	2	3	0	1	3	6	rs199762452		C3N-00556_TP	C3N-00556_NB	G	G																c.744C>G	p.Ile248Met	p.I248M	ENST00000398334	3/10	133	114	19	210	210	0	strelka-varscan-mutect	FANCB,missense_variant,p.Ile248Met,ENST00000398334,NM_001324162.1,NM_001018113.1;FANCB,missense_variant,p.Ile248Met,ENST00000324138,NM_152633.2;FANCB,missense_variant,p.Ile248Met,ENST00000452869,;FANCB,downstream_gene_variant,,ENST00000489126,;	C	ENST00000398334	Transcript	missense_variant	1012/3008	744/2580	248/859	I/M	atC/atG	rs199762452	1		-1	FANCB	HGNC	HGNC:3583	protein_coding	YES	CCDS14161.1	ENSP00000381378	Q8NB91	A0A024RBW1	UPI000006E70A	NM_001324162.1,NM_001018113.1	deleterious(0.01)		3/10		hmmpanther:PTHR28450																	MODERATE	1	SNV	1			1										PASS		rs199762452	.												C	3	2	55	14864767	14864767	G	C	1	0	0	0	0	1	0	0	0	5522	1280	45	4		4	FANCB	23	14864767	Missense_Mutation	SNP	G	C3N-00556_TP	1977840	14864767	141176128	511	17865											
DMD	0	.	GRCh38	chrX	32438376	32438376	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatcctctgaatgtcgcatCaaattttcaagtgactgaaa	13	14	6	8	1	3	3	2	3	1	0	5	3	4	3	1	0	0	1	1	0	5	3	rs377156960		C3N-00556_TP	C3N-00556_NB	C	C																c.3936G>A	p.=	p.L1312L	ENST00000357033	29/79	139	129	10	239	239	0	strelka-varscan-mutect	DMD,synonymous_variant,p.=,ENST00000357033,NM_000109.3,NM_004006.2;DMD,synonymous_variant,p.=,ENST00000378677,NM_004010.3,NM_004009.3;DMD,synonymous_variant,p.=,ENST00000620040,;DMD,synonymous_variant,p.=,ENST00000619831,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;	T	ENST00000357033	Transcript	synonymous_variant	4143/13956	3936/11058	1312/3685	L	ttG/ttA	rs377156960	1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2			29/79		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF261,hmmpanther:PTHR11915,PIRSF_domain:PIRSF002341,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	LOW	1	SNV	1			1										PASS		rs377156960	.												T	2	4	55	32438376	32438376	C	T	1	0	0	0	0	0	0	0	1	4387	825	29	3		3	DMD	23	32438376	Silent	SNP	C	C3N-00556_TP	17573609	32438376	123602519	512	17866											
TBC1D25	0	.	GRCh38	chrX	48559663	48559663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagatggactgacaggccGagagcggatggactacatga	12	6	14	9	2	0	4	0	2	0	2	1	8	1	7	2	4	2	0	2	4	1	1	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.755G>A	p.Arg252Gln	p.R252Q	ENST00000376771	6/6	67	54	13	77	77	0	strelka-varscan-mutect	TBC1D25,missense_variant,p.Arg252Gln,ENST00000376771,NM_002536.2;TBC1D25,downstream_gene_variant,,ENST00000418627,;TBC1D25,non_coding_transcript_exon_variant,,ENST00000476141,;TBC1D25,non_coding_transcript_exon_variant,,ENST00000494495,;TBC1D25,3_prime_UTR_variant,,ENST00000481090,;	A	ENST00000376771	Transcript	missense_variant	1096/4042	755/2067	252/688	R/Q	cGa/cAa		1		1	TBC1D25	HGNC	HGNC:8092	protein_coding	YES	CCDS35242.1	ENSP00000365962	Q3MII6		UPI0000160685	NM_002536.2	tolerated(0.98)		6/6		PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF34,hmmpanther:PTHR22957,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	48559663	48559663	G	A	1	0	0	0	0	1	0	0	0	16015	1058	37	1		1	TBC1D25	23	48559663	Missense_Mutation	SNP	G	C3N-00556_TP	16121287	48559663	107481232	513	17867											
GNL3L	0	.	GRCh38	chrX	54558570	54558570	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccgccgctcagtgctgcaGaggatcatggagacggaccc	9	5	14	13	3	2	2	2	0	0	2	2	6	2	4	3	3	2	3	3	3	0	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1581G>C	p.Gln527His	p.Q527H	ENST00000336470	15/16	219	196	23	190	190	0	strelka-varscan-mutect	GNL3L,missense_variant,p.Gln527His,ENST00000336470,NM_019067.5;GNL3L,missense_variant,p.Gln527His,ENST00000360845,NM_001184819.1;	C	ENST00000336470	Transcript	missense_variant	1720/2357	1581/1749	527/582	Q/H	caG/caC		1		1	GNL3L	HGNC	HGNC:25553	protein_coding	YES	CCDS14360.1	ENSP00000338573	Q9NVN8	A0A024R9Y6	UPI000006CF81	NM_019067.5	deleterious(0)		15/16		hmmpanther:PTHR11089,hmmpanther:PTHR11089:SF27																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	55	54558570	54558570	G	C	1	0	0	0	0	1	0	0	0	6417	933	33	4		4	GNL3L	23	54558570	Missense_Mutation	SNP	G	C3N-00556_TP	5998907	54558570	101482325	514	17868											
ITIH6	0	.	GRCh38	chrX	54788510	54788510	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgatgtcctccatgacCacatcgtactgaaccaggaa	13	8	7	13	1	0	3	0	3	0	0	3	4	2	4	5	1	2	1	5	1	4	1	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.756G>T	p.=	p.V252V	ENST00000218436	5/13	50	33	17	57	57	0	strelka-varscan-mutect	ITIH6,synonymous_variant,p.=,ENST00000218436,NM_198510.2;ITIH6,non_coding_transcript_exon_variant,,ENST00000498398,;	A	ENST00000218436	Transcript	synonymous_variant	786/4968	756/3942	252/1313	V	gtG/gtT		1		-1	ITIH6	HGNC	HGNC:28907	protein_coding	YES	CCDS14361.1	ENSP00000218436	Q6UXX5		UPI00000540C8	NM_198510.2			5/13		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF10																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	54788510	54788510	C	A	1	0	0	0	0	0	0	0	1	7814	581	21	2		2	ITIH6	23	54788510	Silent	SNP	C	C3N-00556_TP	229940	54788510	101252385	515	17869											
PAGE2	0	.	GRCh38	chrX	55090579	55090579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtattgcacctagtggggaGattgaaaatcaagcagtgcc	12	9	13	7	0	1	2	1	1	0	1	1	3	1	2	2	3	3	3	2	3	5	4			C3N-00556_TP	C3N-00556_NB	G	G																c.162G>T	p.Glu54Asp	p.E54D	ENST00000374968	3/5	89	75	14	143	143	0	strelka-varscan-mutect	PAGE2,missense_variant,p.Glu54Asp,ENST00000374968,NM_207339.3;PAGE2,missense_variant,p.Glu54Asp,ENST00000449097,;PAGE2,intron_variant,,ENST00000374965,;	T	ENST00000374968	Transcript	missense_variant	266/551	162/336	54/111	E/D	gaG/gaT	COSM1123624	1		1	PAGE2	HGNC	HGNC:31804	protein_coding	YES	CCDS14367.1	ENSP00000364107	Q7Z2X7		UPI0000160CEC	NM_207339.3	tolerated(0.18)		3/5		hmmpanther:PTHR14047,hmmpanther:PTHR14047:SF14,Pfam_domain:PF05831,SMART_domains:SM01379											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	55	55090579	55090579	G	T	1	0	0	0	0	1	0	0	0	11468	933	33	2		2	PAGE2	23	55090579	Missense_Mutation	SNP	G	C3N-00556_TP	302069	55090579	100950316	516	17870											
OGT	0	.	GRCh38	chrX	71573719	71573719	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctagagcggctctatctacaGatgtgggagcattatgcagc	10	10	12	9	1	2	2	0	0	2	2	2	3	2	3	0	2	5	3	0	2	4	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.3066G>C	p.Gln1022His	p.Q1022H	ENST00000373719	22/22	93	79	14	115	115	0	strelka-varscan-mutect	OGT,missense_variant,p.Gln1022His,ENST00000373719,NM_181672.2;OGT,missense_variant,p.Gln1012His,ENST00000373701,NM_181673.2;ACRC,upstream_gene_variant,,ENST00000373696,NM_052957.4;OGT,non_coding_transcript_exon_variant,,ENST00000488174,;	C	ENST00000373719	Transcript	missense_variant	3283/5461	3066/3141	1022/1046	Q/H	caG/caC		1		1	OGT	HGNC	HGNC:8127	protein_coding	YES	CCDS14414.1	ENSP00000362824	O15294		UPI0000073C9F	NM_181672.2	tolerated(0.07)		22/22		Pfam_domain:PF13844																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	71573719	71573719	G	C	1	0	0	0	0	1	0	0	0	10922	933	33	4		4	OGT	23	71573719	Missense_Mutation	SNP	G	C3N-00556_TP	16483140	71573719	84467176	517	17871											
MAGEE2	0	.	GRCh38	chrX	75784620	75784620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgaggatcaataactctCaggttcaacccaaagacctg	13	8	8	12	0	3	2	3	1	1	1	4	3	3	3	3	2	2	1	3	2	4	2	rs369383225		C3N-00556_TP	C3N-00556_NB	C	C																c.432G>A	p.=	p.L144L	ENST00000373359	1/1	94	80	14	116	116	0	strelka-varscan-mutect	MAGEE2,synonymous_variant,p.=,ENST00000373359,NM_138703.4;	T	ENST00000373359	Transcript	synonymous_variant	617/2249	432/1572	144/523	L	ctG/ctA	rs369383225	1		-1	MAGEE2	HGNC	HGNC:24935	protein_coding	YES	CCDS14431.1	ENSP00000362457	Q8TD90		UPI0000071D2B	NM_138703.4			1/1		Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF7,SMART_domains:SM01373																	LOW	1	SNV				1										PASS		rs369383225	.												T	2	4	55	75784620	75784620	C	T	1	0	0	0	0	0	0	0	1	9104	813	29	3		3	MAGEE2	23	75784620	Silent	SNP	C	C3N-00556_TP	4210901	75784620	80256275	518	17872											
ARMCX4	0	.	GRCh38	chrX	101489814	101489814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaagctgttgccagtactCacgctgaggccatgtctgat	8	11	10	12	1	3	2	2	2	1	0	3	2	3	2	2	1	3	4	2	1	2	2	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1225C>T	p.His409Tyr	p.H409Y	ENST00000423738	2/2	148	134	14	137	137	0	strelka-varscan-mutect	ARMCX4,missense_variant,p.His409Tyr,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000455331,;	T	ENST00000423738	Transcript	missense_variant	1427/7424	1225/6873	409/2290	H/Y	Cac/Tac		1		1	ARMCX4	HGNC	HGNC:28615	protein_coding	YES	CCDS59170.1	ENSP00000404304		F8W8Y7	UPI000442CF06	NM_001256155.2	deleterious(0.01)		2/2		hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	55	101489814	101489814	C	T	1	0	0	0	0	1	0	0	0	1102	826	29	3		3	ARMCX4	23	101489814	Missense_Mutation	SNP	C	C3N-00556_TP	25705194	101489814	54551081	519	17873											
TCP11X2	0	.	GRCh38	chrX	102463196	102463196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggtatagcaccattgttgGactggggggctctgaattgt	7	14	14	6	0	1	1	0	1	1	0	1	2	1	2	1	5	1	4	1	5	3	6	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.574C>T	p.Pro192Ser	p.P192S	ENST00000453326	7/10	612	530	82	654	654	0	strelka-varscan-mutect	TCP11X2,missense_variant,p.Pro192Ser,ENST00000453326,NM_001277423.1;NXF2B,intron_variant,,ENST00000618881,;NXF2B,upstream_gene_variant,,ENST00000618302,;TCP11X2,non_coding_transcript_exon_variant,,ENST00000462555,;TCP11X2,intron_variant,,ENST00000429905,;	A	ENST00000453326	Transcript	missense_variant	903/1747	574/1224	192/407	P/S	Cca/Tca		1		-1	TCP11X2	HGNC	HGNC:48335	protein_coding	YES	CCDS59530.1	ENSP00000392879	Q5H9J9		UPI00004A2DFE	NM_001277423.1	tolerated(0.1)		7/10		hmmpanther:PTHR12832:SF21,hmmpanther:PTHR12832,Pfam_domain:PF05794																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	55	102463196	102463196	G	A	1	0	0	0	0	1	0	0	0	16123	1174	41	3		3	TCP11X2	23	102463196	Missense_Mutation	SNP	G	C3N-00556_TP	973382	102463196	53577699	520	17874											
TBC1D8B	0	.	GRCh38	chrX	106827358	106827358	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaattaattatacagcaatCaaatcatttggaaaaaaagg	20	11	6	4	0	2	0	2	0	0	0	2	1	2	1	0	2	2	2	0	2	9	5	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1224C>T	p.=	p.I408I	ENST00000481617	7/7	84	70	14	103	103	0	strelka-varscan-mutect	TBC1D8B,synonymous_variant,p.=,ENST00000481617,;TBC1D8B,intron_variant,,ENST00000357242,NM_017752.2;TBC1D8B,intron_variant,,ENST00000276175,;TBC1D8B,intron_variant,,ENST00000310452,NM_198881.1;MORC4,intron_variant,,ENST00000604604,;	T	ENST00000481617	Transcript	synonymous_variant	1373/4098	1224/1260	408/419	I	atC/atT		1		1	TBC1D8B	HGNC	HGNC:24715	protein_coding			ENSP00000421375		D6RFZ2	UPI00005A931C				7/7																			LOW		SNV	1			1										PASS		.	.												T	2	4	55	106827358	106827358	C	T	1	0	0	0	0	0	0	0	1	16031	816	29	3		3	TBC1D8B	23	106827358	Silent	SNP	C	C3N-00556_TP	4364162	106827358	49213537	521	17875											
MID2	0	.	GRCh38	chrX	107924489	107924489	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggaacagtgaacctaccCgactaaaaacaaacagtacg	17	4	8	12	3	0	1	0	1	0	0	0	3	0	2	3	1	6	1	3	1	8	3	rs777521293		C3N-00556_TP	C3N-00556_NB	C	C																c.1582C>T	p.Arg528Ter	p.R528*	ENST00000262843	8/10	48	36	12	70	70	0	strelka-mutect	MID2,stop_gained,p.Arg528Ter,ENST00000262843,NM_012216.3;MID2,stop_gained,p.Arg498Ter,ENST00000443968,NM_052817.2;RP6-191P20.4,intron_variant,,ENST00000430140,;MID2,non_coding_transcript_exon_variant,,ENST00000474517,;	T	ENST00000262843	Transcript	stop_gained	2130/2876	1582/2208	528/735	R/*	Cga/Tga	rs777521293	1		1	MID2	HGNC	HGNC:7096	protein_coding	YES	CCDS14532.2	ENSP00000262843	Q9UJV3		UPI0000D4F411	NM_012216.3			8/10		Gene3D:2.60.40.10,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF283,Superfamily_domains:SSF49265,Superfamily_domains:SSF49899																	HIGH	1	SNV	1			1										PASS		rs777521293	.												T	4	4	55	107924489	107924489	C	T	1	0	0	0	0	0	1	0	0	9538	644	23	1		1	MID2	23	107924489	Nonsense_Mutation	SNP	C	C3N-00556_TP	1097131	107924489	48116406	522	17876											
CXorf56	0	.	GRCh38	chrX	119560290	119560290	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagatacatagtctcctCatcttctgtgttacaaaact	11	13	5	12	1	4	1	1	0	3	1	5	1	4	1	2	0	3	2	2	0	5	4	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.220G>T	p.Glu74Ter	p.E74*	ENST00000536133	2/6	106	67	39	132	132	0	strelka-varscan-mutect	CXorf56,stop_gained,p.Glu25Ter,ENST00000320339,NM_001170569.1;CXorf56,stop_gained,p.Glu74Ter,ENST00000536133,NM_022101.3,NM_001170570.1;	A	ENST00000536133	Transcript	stop_gained	273/1089	220/627	74/208	E/*	Gag/Tag		1		-1	CXorf56	HGNC	HGNC:26239	protein_coding	YES	CCDS55485.1	ENSP00000441786	Q9H5V9		UPI0001C0B3BE	NM_022101.3,NM_001170570.1			2/6		hmmpanther:PTHR13420,hmmpanther:PTHR13420:SF4																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	55	119560290	119560290	C	A	1	0	0	0	0	0	1	0	0	3916	835	29	2		2	CXorf56	23	119560290	Nonsense_Mutation	SNP	C	C3N-00556_TP	11635801	119560290	36480605	523	17877											
THOC2	0	.	GRCh38	chrX	123619408	123619408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagactcaaacctttgctGaagattccttgagttcgatg	13	12	8	8	1	1	4	1	2	0	2	3	5	2	4	2	0	2	2	2	0	4	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.4304C>T	p.Ser1435Leu	p.S1435L	ENST00000245838	33/39	73	42	31	55	55	0	strelka-varscan-mutect	THOC2,missense_variant,p.Ser1435Leu,ENST00000245838,NM_001081550.1;THOC2,missense_variant,p.Ser1435Leu,ENST00000355725,;THOC2,missense_variant,p.Ser1320Leu,ENST00000491737,;THOC2,missense_variant,p.Ser230Leu,ENST00000441692,;THOC2,missense_variant,p.Ser256Leu,ENST00000618150,;THOC2,missense_variant,p.Ser31Leu,ENST00000448128,;THOC2,missense_variant,p.Ser24Leu,ENST00000416618,;THOC2,downstream_gene_variant,,ENST00000438358,;THOC2,non_coding_transcript_exon_variant,,ENST00000497887,;THOC2,3_prime_UTR_variant,,ENST00000432353,;THOC2,non_coding_transcript_exon_variant,,ENST00000496830,;THOC2,non_coding_transcript_exon_variant,,ENST00000464992,;THOC2,downstream_gene_variant,,ENST00000459945,;THOC2,downstream_gene_variant,,ENST00000464604,;THOC2,downstream_gene_variant,,ENST00000464161,;THOC2,downstream_gene_variant,,ENST00000464982,;	A	ENST00000245838	Transcript	missense_variant	4336/5609	4304/4782	1435/1593	S/L	tCa/tTa		1		-1	THOC2	HGNC	HGNC:19073	protein_coding	YES	CCDS43988.1	ENSP00000245838	Q8NI27		UPI00001D7C42	NM_001081550.1	tolerated(0.05)		33/39		hmmpanther:PTHR21597,hmmpanther:PTHR21597:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	55	123619408	123619408	G	A	1	0	0	0	0	1	0	0	0	16300	1294	45	3		3	THOC2	23	123619408	Missense_Mutation	SNP	G	C3N-00556_TP	4059118	123619408	32421487	524	17878											
ELF4	0	.	GRCh38	chrX	130069376	130069376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtagtggggatctcctcgtCtagcgacggtcccaattcca	7	10	12	12	3	2	0	0	0	2	0	6	2	4	1	3	4	1	1	3	4	3	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.1111G>C	p.Asp371His	p.D371H	ENST00000308167	8/9	205	185	20	176	176	0	strelka-varscan-mutect	ELF4,missense_variant,p.Asp371His,ENST00000308167,NM_001421.3;ELF4,missense_variant,p.Asp371His,ENST00000335997,NM_001127197.1;ELF4,missense_variant,p.Arg370Thr,ENST00000615377,;ELF4,downstream_gene_variant,,ENST00000434609,;	G	ENST00000308167	Transcript	missense_variant	1491/4165	1111/1992	371/663	D/H	Gac/Cac		1		-1	ELF4	HGNC	HGNC:3319	protein_coding	YES	CCDS14617.1	ENSP00000311280	Q99607		UPI0000072B32	NM_001421.3	tolerated(0.55)		8/9		hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF170																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	55	130069376	130069376	C	G	1	0	0	0	0	1	0	0	0	4889	913	32	4		4	ELF4	23	130069376	Missense_Mutation	SNP	C	C3N-00556_TP	6449968	130069376	25971519	525	17879											
GPR50	0	.	GRCh38	chrX	151180631	151180631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccaagctcgtgaacaaGaccgtgcccatgcctgtcct	9	7	10	15	3	0	2	0	1	0	1	2	3	1	2	5	0	4	1	5	0	3	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1048G>T	p.Asp350Tyr	p.D350Y	ENST00000218316	2/2	160	80	80	139	139	0	strelka-varscan-mutect	GPR50,missense_variant,p.Asp350Tyr,ENST00000218316,NM_004224.3;AF003625.3,upstream_gene_variant,,ENST00000602313,;GPR50-AS1,upstream_gene_variant,,ENST00000454196,;	T	ENST00000218316	Transcript	missense_variant	1117/1951	1048/1854	350/617	D/Y	Gac/Tac		1		1	GPR50	HGNC	HGNC:4506	protein_coding	YES	CCDS44012.1	ENSP00000218316	Q13585		UPI000013C755	NM_004224.3	deleterious(0)		2/2		Low_complexity_(Seg):seg,Prints_domain:PR01151																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	55	151180631	151180631	G	T	1	0	0	0	0	1	0	0	0	6582	942	33	2		2	GPR50	23	151180631	Missense_Mutation	SNP	G	C3N-00556_TP	21111255	151180631	4860264	526	17880											
GABRA3	0	.	GRCh38	chrX	152168293	152168293	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatgtggcccaatagaccaGattgaatatggcaaagagca	16	8	10	7	0	0	4	0	1	0	3	0	4	0	4	2	2	1	2	2	2	6	4	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.1414C>T	p.=	p.L472L	ENST00000370314	10/10	141	99	42	117	117	0	strelka-varscan-mutect	GABRA3,synonymous_variant,p.=,ENST00000370314,NM_000808.3;GABRA3,synonymous_variant,p.=,ENST00000535043,;RP11-329E24.6,intron_variant,,ENST00000453915,;	A	ENST00000370314	Transcript	synonymous_variant	1653/3712	1414/1479	472/492	L	Ctg/Ttg		1		-1	GABRA3	HGNC	HGNC:4077	protein_coding	YES	CCDS14706.1	ENSP00000359337	P34903		UPI000002D730	NM_000808.3			10/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF216,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Gene3D:1.20.58.390,Superfamily_domains:SSF90112,Prints_domain:PR00253																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	55	152168293	152168293	G	A	1	0	0	0	0	0	0	0	1	6033	933	33	3		3	GABRA3	23	152168293	Silent	SNP	G	C3N-00556_TP	987662	152168293	3872602	527	17881											
BGN	0	.	GRCh38	chrX	153505258	153505258	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgaagtctgtgcccaaaGagatctcccctgacaccacg	10	8	9	14	1	3	3	0	2	3	1	4	4	3	3	4	0	1	0	4	0	2	0	novel		C3N-00556_TP	C3N-00556_NB	G	G																c.259G>C	p.Glu87Gln	p.E87Q	ENST00000331595	3/8	52	40	12	29	29	0	strelka-varscan-mutect	BGN,missense_variant,p.Glu87Gln,ENST00000331595,NM_001711.4;BGN,missense_variant,p.Glu87Gln,ENST00000431891,;BGN,splice_acceptor_variant,,ENST00000480756,;BGN,non_coding_transcript_exon_variant,,ENST00000472615,;BGN,upstream_gene_variant,,ENST00000492658,;	C	ENST00000331595	Transcript	missense_variant	445/2402	259/1107	87/368	E/Q	Gag/Cag		1		1	BGN	HGNC	HGNC:1044	protein_coding	YES	CCDS14721.1	ENSP00000327336	P21810		UPI000003BDBA	NM_001711.4	tolerated(0.29)		3/8		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF6,Gene3D:3.80.10.10,PIRSF_domain:PIRSF002490,Pfam_domain:PF01462,SMART_domains:SM00013,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	55	153505258	153505258	G	C	1	0	0	0	0	1	0	0	0	1566	943	33	4		4	BGN	23	153505258	Missense_Mutation	SNP	G	C3N-00556_TP	1336965	153505258	2535637	528	17882											
PDZD4	0	.	GRCh38	chrX	153804198	153804198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcccgccgcagggggctctCgggcaggggctccacaagca	6	3	17	15	3	1	0	0	0	1	0	3	0	2	0	3	6	1	5	3	6	1	0			C3N-00556_TP	C3N-00556_NB	C	C																c.1483G>A	p.Glu495Lys	p.E495K	ENST00000393758	8/8	58	53	5	59	59	0	strelka-mutect	PDZD4,missense_variant,p.Glu495Lys,ENST00000393758,NM_001303515.1,NM_001303513.1,NM_001303512.1;PDZD4,missense_variant,p.Glu489Lys,ENST00000164640,NM_001303516.1,NM_032512.3;PDZD4,missense_variant,p.Glu380Lys,ENST00000544474,NM_001303514.1;PDZD4,downstream_gene_variant,,ENST00000475140,;PDZD4,downstream_gene_variant,,ENST00000483693,;PDZD4,downstream_gene_variant,,ENST00000484792,;PDZD4,downstream_gene_variant,,ENST00000468491,;PDZD4,downstream_gene_variant,,ENST00000480418,;PDZD4,downstream_gene_variant,,ENST00000480650,;	T	ENST00000393758	Transcript	missense_variant	1733/3763	1483/2328	495/775	E/K	Gag/Aag	COSM3913631	1		-1	PDZD4	HGNC	HGNC:21167	protein_coding	YES	CCDS78518.1	ENSP00000377355		Q17RL8	UPI0000211CB2	NM_001303515.1,NM_001303513.1,NM_001303512.1	deleterious(0.01)		8/8		hmmpanther:PTHR15545,hmmpanther:PTHR15545:SF4,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	55	153804198	153804198	C	T	1	0	0	0	0	1	0	0	0	11791	893	31	1		1	PDZD4	23	153804198	Missense_Mutation	SNP	C	C3N-00556_TP	298940	153804198	2236697	529	17883											
CTAG2	0	.	GRCh38	chrX	154652541	154652541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaagtccttcagaaccgcCcctggtcgggggagcggtgc	6	7	16	12	3	1	2	1	1	0	1	3	3	2	3	4	4	3	0	4	4	2	1			C3N-00556_TP	C3N-00556_NB	C	C																c.360G>A	p.=	p.G120G	ENST00000247306	2/2	101	76	25	71	71	0	strelka-varscan-mutect	CTAG2,synonymous_variant,p.=,ENST00000247306,NM_020994.4;CTAG2,synonymous_variant,p.=,ENST00000369585,NM_172377.4;IKBKGP1,upstream_gene_variant,,ENST00000612193,;AF277315.13,upstream_gene_variant,,ENST00000442033,;	T	ENST00000247306	Transcript	synonymous_variant	424/993	360/633	120/210	G	ggG/ggA	COSM5153717,COSM5153718,COSM5153719	1		-1	CTAG2	HGNC	HGNC:2492	protein_coding	YES	CCDS14759.1	ENSP00000247306	O75638		UPI000006D049	NM_020994.4			2/2		Pfam_domain:PF09341,hmmpanther:PTHR31283,hmmpanther:PTHR31283:SF4											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												T	2	4	55	154652541	154652541	C	T	1	0	0	0	0	0	0	0	1	3795	610	22	3		3	CTAG2	23	154652541	Silent	SNP	C	C3N-00556_TP	848343	154652541	1388354	530	17884											
RAB39B	0	.	GRCh38	chrX	155261055	155261055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggcgagtcacttgcctCtgtgtatccaggtcacactt	6	13	10	12	2	3	0	2	0	1	0	5	1	4	0	2	2	1	1	2	2	1	3	novel		C3N-00556_TP	C3N-00556_NB	C	C																c.390G>T	p.Gln130His	p.Q130H	ENST00000369454	2/2	78	73	5	87	87	0	strelka-varscan-mutect	RAB39B,missense_variant,p.Gln130His,ENST00000369454,NM_171998.3;	A	ENST00000369454	Transcript	missense_variant	691/3505	390/642	130/213	Q/H	caG/caT		1		-1	RAB39B	HGNC	HGNC:16499	protein_coding	YES	CCDS14766.1	ENSP00000358466	Q96DA2		UPI00000412A6	NM_171998.3	tolerated(0.14)		2/2		PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF395,hmmpanther:PTHR24073,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	55	155261055	155261055	C	A	1	0	0	0	0	1	0	0	0	13089	912	32	2		2	RAB39B	23	155261055	Missense_Mutation	SNP	C	C3N-00556_TP	608514	155261055	779840	531	17885											
WDR78	0	.	GRCh38	chr1	66862146	66862146	+	Splice_Site	SNP	C	C	G																															ctaaaataaatgaaatcttaCttttttctgtagtgctccct																								novel		C3N-00559_TP	C3N-00559_NB	C	C																c.1096+1G>C		p.X366_splice	ENST00000371026		18	14	4	76	76	0	varscan-mutect	WDR78,splice_donor_variant,,ENST00000371026,NM_024763.4;WDR78,splice_donor_variant,,ENST00000464352,;WDR78,splice_donor_variant,,ENST00000371023,NM_207014.2;WDR78,splice_donor_variant,,ENST00000469450,;WDR78,splice_donor_variant,,ENST00000531552,;WDR78,splice_donor_variant,,ENST00000493572,;WDR78,splice_donor_variant,,ENST00000491297,;WDR78,downstream_gene_variant,,ENST00000531980,;	G	ENST00000371026	Transcript	splice_donor_variant	-/3848	1096/2547	366/848				1		-1	WDR78	HGNC	HGNC:26252	protein_coding	YES	CCDS635.1	ENSP00000360065	Q5VTH9		UPI00004561EF	NM_024763.4				7/16																		HIGH	1	SNV	1			1										PASS		rs1207293612	.												G	5	3	56	66862146	66862146	C	G	1	0	0	0	0	0	0	1	0	17884	579	20	4		4	WDR78	1	66862146	Splice_Site	SNP	C	C3N-00559_TP		66862146	182094276	1	17886	381	2									
WDR78	0	.	GRCh38	chr1	66862147	66862147	+	Missense_Mutation	SNP	T	T	C																															taaaataaatgaaatcttacTtttttctgtagtgctccctg																								novel		C3N-00559_TP	C3N-00559_NB	T	T																c.1096A>G	p.Asn366Asp	p.N366D	ENST00000371026	7/17	19	15	4	76	76	0	varscan-mutect	WDR78,missense_variant,p.Asn366Asp,ENST00000371026,NM_024763.4;WDR78,missense_variant,p.Asn132Asp,ENST00000464352,;WDR78,missense_variant,p.Asn366Asp,ENST00000371023,NM_207014.2;WDR78,missense_variant,p.Thr100Ala,ENST00000469450,;WDR78,missense_variant,p.Lys53Glu,ENST00000531552,;WDR78,splice_region_variant,,ENST00000493572,;WDR78,splice_region_variant,,ENST00000491297,;WDR78,downstream_gene_variant,,ENST00000531980,;	C	ENST00000371026	Transcript	missense_variant,splice_region_variant	1152/3848	1096/2547	366/848	N/D	Aat/Gat		1		-1	WDR78	HGNC	HGNC:26252	protein_coding	YES	CCDS635.1	ENSP00000360065	Q5VTH9		UPI00004561EF	NM_024763.4	tolerated(0.79)		7/17																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	56	66862147	66862147	T	C	1	0	0	0	0	1	0	0	0	17884	1623	56	5		5	WDR78	1	66862147	Missense_Mutation	SNP	T	C3N-00559_TP	1	66862147	182094275	2	17887	381	2									
ZC3H6	0	.	GRCh38	chr2	112309957	112309957	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaatttaaaagtaaagaaTatgatgagtacagcacctac	21	9	6	5	0	0	3	0	2	0	1	0	3	0	3	1	0	3	3	1	0	10	6	novel		C3N-00559_TP	C3N-00559_NB	T	T																c.409T>A	p.Tyr137Asn	p.Y137N	ENST00000409871	4/12	56	52	4	311	311	0	varscan-mutect	ZC3H6,missense_variant,p.Tyr137Asn,ENST00000409871,NM_198581.2;ZC3H6,missense_variant,p.Tyr137Asn,ENST00000343936,;ZC3H6,non_coding_transcript_exon_variant,,ENST00000476511,;	A	ENST00000409871	Transcript	missense_variant	810/11542	409/3570	137/1189	Y/N	Tat/Aat		1		1	ZC3H6	HGNC	HGNC:24762	protein_coding	YES	CCDS46393.1	ENSP00000386764	P61129		UPI00004215E8	NM_198581.2	deleterious(0.01)		4/12		hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF22																	MODERATE	1	SNV	2			1										PASS		rs1280185213	.												A	3	1	56	112309957	112309957	T	A	1	0	0	0	0	1	0	0	0	18146	1406	49	4		4	ZC3H6	2	112309957	Missense_Mutation	SNP	T	C3N-00559_TP		112309957	129883572	3	17888											
HECW2	0	.	GRCh38	chr2	196325112	196325112	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaagataagggtcaggattGaagaacatccctttctttag	13	13	9	6	0	2	3	1	1	1	2	3	4	3	4	1	2	1	0	1	2	5	6	novel		C3N-00559_TP	C3N-00559_NB	G	G																c.609C>T	p.=	p.F203F	ENST00000260983	6/29	46	38	8	83	83	0	strelka-mutect	HECW2,synonymous_variant,p.=,ENST00000260983,NM_020760.2;HECW2,intron_variant,,ENST00000409111,NM_001304840.1;	A	ENST00000260983	Transcript	synonymous_variant	792/11809	609/4719	203/1572	F	ttC/ttT		1		-1	HECW2	HGNC	HGNC:29853	protein_coding	YES	CCDS33354.1	ENSP00000260983	Q9P2P5		UPI00001A75E8	NM_020760.2			6/29		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF127,SMART_domains:SM00239,Superfamily_domains:SSF49562																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	56	196325112	196325112	G	A	1	0	0	0	0	0	0	0	1	6925	1281	45	3		3	HECW2	2	196325112	Silent	SNP	G	C3N-00559_TP	84015155	196325112	45868417	4	17889											
COL4A3	0	.	GRCh38	chr2	227309241	227309241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgcgatcgccatagccGttcacagccaaaccactgac	10	7	8	16	3	1	1	1	1	0	0	3	2	2	1	5	0	4	1	5	0	2	2	rs574102153		C3N-00559_TP	C3N-00559_NB	G	G																c.4678G>A	p.Val1560Ile	p.V1560I	ENST00000396578	50/52	322	292	30	462	462	0	strelka-varscan-mutect	COL4A3,missense_variant,p.Val1560Ile,ENST00000396578,NM_000091.4;AC097662.2,intron_variant,,ENST00000439598,;AC097662.2,intron_variant,,ENST00000396588,;AC097662.2,intron_variant,,ENST00000433324,;COL4A3,non_coding_transcript_exon_variant,,ENST00000469504,;COL4A3,downstream_gene_variant,,ENST00000471862,;	A	ENST00000396578	Transcript	missense_variant	4840/8097	4678/5013	1560/1670	V/I	Gtt/Att	rs574102153,COSM4092100,COSM4092101	1		1	COL4A3	HGNC	HGNC:2204	protein_coding	YES	CCDS42829.1	ENSP00000379823	Q01955		UPI000013E9F3	NM_000091.4	tolerated(0.25)		50/52		PROSITE_profiles:PS51403,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF598,Pfam_domain:PF01413,Gene3D:1t60D00,SMART_domains:SM00111,Superfamily_domains:SSF56436											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs574102153	.												A	3	1	56	227309241	227309241	G	A	1	0	0	0	0	1	0	0	0	3480	1145	40	1		1	COL4A3	2	227309241	Missense_Mutation	SNP	G	C3N-00559_TP	30984129	227309241	14884288	5	17890											
ALPI	0	.	GRCh38	chr2	232458888	232458888	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattaccagcagcaggcggcGgtgcccctgtcgtccgagac	7	6	14	14	4	0	1	0	0	0	1	2	3	1	1	4	3	4	2	4	3	1	1			C3N-00559_TP	C3N-00559_NB	G	G																c.1329G>A	p.=	p.A443A	ENST00000295463	11/11	297	219	78	133	133	0	strelka-varscan-mutect	ALPI,synonymous_variant,p.=,ENST00000295463,NM_001631.4;ALPI,3_prime_UTR_variant,,ENST00000457560,;	A	ENST00000295463	Transcript	synonymous_variant	1406/2550	1329/1587	443/528	A	gcG/gcA	COSM1406220	1		1	ALPI	HGNC	HGNC:437	protein_coding	YES	CCDS2492.1	ENSP00000295463	P09923	A0A024R4A2	UPI0000131FFE	NM_001631.4			11/11		hmmpanther:PTHR11596:SF31,hmmpanther:PTHR11596,Pfam_domain:PF00245,Gene3D:3.40.720.10,SMART_domains:SM00098,Superfamily_domains:SSF53649											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	56	232458888	232458888	G	A	1	0	0	0	0	0	0	0	1	643	1103	39	1		1	ALPI	2	232458888	Silent	SNP	G	C3N-00559_TP	5149647	232458888	9734641	6	17891											
WNT7A	0	.	GRCh38	chr3	13818970	13818970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtgtacatctccgtgcGctcgctgcacgtgttgcact	5	11	11	14	5	1	0	0	0	1	0	3	0	1	0	1	0	4	7	1	0	1	2			C3N-00559_TP	C3N-00559_NB	G	G																c.1024C>T	p.Arg342Cys	p.R342C	ENST00000285018	4/4	91	81	10	39	39	0	strelka-varscan-mutect	WNT7A,missense_variant,p.Arg342Cys,ENST00000285018,NM_004625.3;	A	ENST00000285018	Transcript	missense_variant	1329/4041	1024/1050	342/349	R/C	Cgc/Tgc	COSM3124098	1		-1	WNT7A	HGNC	HGNC:12786	protein_coding	YES	CCDS2616.1	ENSP00000285018	O00755		UPI0000033777	NM_004625.3	deleterious(0)		4/4		Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF78,SMART_domains:SM00097											1						MODERATE	1	SNV	1		1	1										PASS		rs1426757027	.												A	3	1	56	13818970	13818970	G	A	1	0	0	0	0	1	0	0	0	17950	1087	38	1		1	WNT7A	3	13818970	Missense_Mutation	SNP	G	C3N-00559_TP		13818970	184476589	7	17892											
EOMES	0	.	GRCh38	chr3	27721914	27721914	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcgcgcagtggccgcagcCgcggcggcggcggcggcggc	3	2	21	15	10	0	0	0	0	0	0	0	0	0	0	2	7	2	2	2	7	1	1	rs867772691		C3N-00559_TP	C3N-00559_NB	C	C																c.381G>C	p.=	p.A127A	ENST00000449599	1/6	259	243	16	103	102	1	varscan-mutect	EOMES,synonymous_variant,p.=,ENST00000295743,NM_005442.3;EOMES,synonymous_variant,p.=,ENST00000449599,NM_001278182.1;EOMES,intron_variant,,ENST00000461503,NM_001278183.1;	G	ENST00000449599	Transcript	synonymous_variant	399/2829	381/2118	127/705	A	gcG/gcC	rs867772691	1		-1	EOMES	HGNC	HGNC:3372	protein_coding	YES	CCDS63585.1	ENSP00000388620	O95936		UPI00004DEF82	NM_001278182.1			1/6		Low_complexity_(Seg):seg,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF13																	LOW	1	SNV	1			1										PASS		rs34467870	.												G	2	3	56	27721914	27721914	C	G	1	0	0	0	0	0	0	0	1	4993	639	23	4		4	EOMES	3	27721914	Silent	SNP	C	C3N-00559_TP	13902944	27721914	170573645	8	17893											
SCN5A	0	.	GRCh38	chr3	38560229	38560229	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtacaattctccggtcaagTtcaaggactcacactggctc	11	10	8	12	1	4	0	3	0	1	0	6	1	4	1	1	3	1	3	1	3	4	3	novel		C3N-00559_TP	C3N-00559_NB	T	T																c.4163A>G	p.Asn1388Ser	p.N1388S	ENST00000413689	23/28	249	157	92	326	326	0	strelka-varscan	SCN5A,missense_variant,p.Asn1388Ser,ENST00000413689,NM_001099404.1;SCN5A,missense_variant,p.Asn1388Ser,ENST00000333535,NM_198056.2;SCN5A,missense_variant,p.Asn1388Ser,ENST00000425664,NM_001099405.1;SCN5A,missense_variant,p.Asn1387Ser,ENST00000423572,NM_000335.4;SCN5A,missense_variant,p.Asn1334Ser,ENST00000451551,NM_001160161.1;SCN5A,missense_variant,p.Asn1388Ser,ENST00000414099,;SCN5A,missense_variant,p.Asn1387Ser,ENST00000455624,NM_001160160.1;SCN5A,missense_variant,p.Asn1334Ser,ENST00000450102,;SCN5A,missense_variant,p.Asn1334Ser,ENST00000449557,;	C	ENST00000413689	Transcript	missense_variant	4357/8504	4163/6051	1388/2016	N/S	aAc/aGc		1		-1	SCN5A	HGNC	HGNC:10593	protein_coding	YES	CCDS46799.1	ENSP00000410257		H9KVD2	UPI0001572CC8	NM_001099404.1	tolerated(0.09)		23/28		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF206																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	56	38560229	38560229	T	C	1	0	0	0	0	1	0	0	0	14191	1725	60	5		5	SCN5A	3	38560229	Missense_Mutation	SNP	T	C3N-00559_TP	10838315	38560229	159735330	9	17894											
NR3C2	0	.	GRCh38	chr4	148435572	148435572	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgaatgcttggttgatTcttgctttattggtactgag	9	17	10	5	0	1	3	0	3	1	0	1	3	1	3	0	2	4	4	0	2	4	8	novel		C3N-00559_TP	C3N-00559_NB	T	T																c.1289A>T	p.Glu430Val	p.E430V	ENST00000358102	2/9	93	81	12	312	312	0	strelka-varscan-mutect	NR3C2,missense_variant,p.Glu430Val,ENST00000625323,;NR3C2,missense_variant,p.Glu430Val,ENST00000358102,NM_000901.4;NR3C2,missense_variant,p.Glu430Val,ENST00000344721,;NR3C2,missense_variant,p.Glu430Val,ENST00000512865,NM_001166104.1;NR3C2,missense_variant,p.Glu430Val,ENST00000511528,;NR3C2,missense_variant,p.Glu430Val,ENST00000342437,;	A	ENST00000358102	Transcript	missense_variant	1652/5893	1289/2955	430/984	E/V	gAa/gTa		1		-1	NR3C2	HGNC	HGNC:7979	protein_coding	YES	CCDS3772.1	ENSP00000350815		B0ZBF6	UPI000013DC6D	NM_000901.4	deleterious_low_confidence(0)		2/9		hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF22																	MODERATE	1	SNV	1			1										PASS		rs971716617	.												A	3	1	56	148435572	148435572	T	A	1	0	0	0	0	1	0	0	0	10687	1783	62	4		4	NR3C2	4	148435572	Missense_Mutation	SNP	T	C3N-00559_TP		148435572	41778983	10	17895											
PPARGC1B	0	.	GRCh38	chr5	149833376	149833376	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaggaggaggaagacgagGaagaagaggaggaggaagag	18	0	21	2	1	0	4	0	0	0	4	0	12	0	11	0	7	1	1	0	7	4	0	novel		C3N-00559_TP	C3N-00559_NB	G	G																c.1303G>T	p.Glu435Ter	p.E435*	ENST00000309241	5/12	577	544	33	196	196	0	strelka-varscan-mutect	PPARGC1B,stop_gained,p.Glu435Ter,ENST00000309241,NM_133263.3;PPARGC1B,stop_gained,p.Glu435Ter,ENST00000394320,;PPARGC1B,stop_gained,p.Glu371Ter,ENST00000403750,NM_001172699.1;PPARGC1B,stop_gained,p.Glu396Ter,ENST00000360453,NM_001172698.1;PPARGC1B,stop_gained,p.Glu122Ter,ENST00000434684,;	T	ENST00000309241	Transcript	stop_gained	1335/10568	1303/3072	435/1023	E/*	Gaa/Taa		1		1	PPARGC1B	HGNC	HGNC:30022	protein_coding	YES	CCDS4298.1	ENSP00000312649	Q86YN6		UPI000006F49D	NM_133263.3			5/12		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15528:SF12,hmmpanther:PTHR15528																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	56	149833376	149833376	G	T	1	0	0	0	0	0	1	0	0	12410	1175	41	2		2	PPARGC1B	5	149833376	Nonsense_Mutation	SNP	G	C3N-00559_TP		149833376	31704883	11	17896											
PDGFRB	0	.	GRCh38	chr5	150121899	150121899	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagagggaacgtagttatcGtaaggggccatgtagttgga	11	9	15	6	2	0	1	0	0	0	1	1	3	0	3	2	4	1	5	2	4	5	5			C3N-00559_TP	C3N-00559_NB	G	G																c.2325C>T	p.=	p.Y775Y	ENST00000261799	16/23	221	201	20	160	160	0	strelka-varscan-mutect	PDGFRB,synonymous_variant,p.=,ENST00000261799,NM_002609.3;PDGFRB,non_coding_transcript_exon_variant,,ENST00000519575,;PDGFRB,non_coding_transcript_exon_variant,,ENST00000521723,;PDGFRB,3_prime_UTR_variant,,ENST00000520579,;PDGFRB,downstream_gene_variant,,ENST00000520229,;	A	ENST00000261799	Transcript	synonymous_variant	2795/5717	2325/3321	775/1106	Y	taC/taT	COSM1064296	1		-1	PDGFRB	HGNC	HGNC:8804	protein_coding	YES	CCDS4303.1	ENSP00000261799	P09619		UPI0000131791	NM_002609.3			16/23		Pfam_domain:PF07714,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500948,PROSITE_profiles:PS50011,SMART_domains:SM00219											1						LOW	1	SNV	1		1	1										PASS		rs1472203888	.												A	2	1	56	150121899	150121899	G	A	1	0	0	0	0	0	0	0	1	11750	1140	40	1		1	PDGFRB	5	150121899	Silent	SNP	G	C3N-00559_TP	288523	150121899	31416360	12	17897											
SOX30	0	.	GRCh38	chr5	157648807	157648807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttagctttggctagtgctgGtcggtggatccttgcccaaa	6	13	13	9	1	0	0	0	0	0	0	2	1	1	1	2	4	3	4	2	4	3	4	novel		C3N-00559_TP	C3N-00559_NB	G	G																c.1057C>A	p.Pro353Thr	p.P353T	ENST00000265007	2/5	212	199	13	336	336	0	strelka-varscan-mutect	SOX30,missense_variant,p.Pro353Thr,ENST00000265007,NM_178424.1;SOX30,missense_variant,p.Pro353Thr,ENST00000311371,NM_007017.2;SOX30,missense_variant,p.Pro48Thr,ENST00000519442,NM_001308165.1;	T	ENST00000265007	Transcript	missense_variant	1399/3265	1057/2262	353/753	P/T	Cca/Aca		1		-1	SOX30	HGNC	HGNC:30635	protein_coding	YES	CCDS4339.1	ENSP00000265007	O94993		UPI00001362BA	NM_178424.1	deleterious(0.01)		2/5		Gene3D:1.10.30.10,Pfam_domain:PF00505,PROSITE_profiles:PS50118,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF10,Low_complexity_(Seg):seg,SMART_domains:SM00398,Superfamily_domains:SSF47095																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	56	157648807	157648807	G	T	1	0	0	0	0	1	0	0	0	15278	1261	44	2		2	SOX30	5	157648807	Missense_Mutation	SNP	G	C3N-00559_TP	7526908	157648807	23889452	13	17898											
FAF2	0	.	GRCh38	chr5	176494057	176494057	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttatcttcatggagatgAtcaccaggactctgatgagt	10	13	11	7	0	4	4	2	3	2	1	4	6	4	5	1	3	0	1	1	3	1	3	novel		C3N-00559_TP	C3N-00559_NB	A	A																c.542A>G	p.Asp181Gly	p.D181G	ENST00000261942	6/11	43	38	5	188	188	0	strelka-mutect	FAF2,missense_variant,p.Asp181Gly,ENST00000261942,NM_014613.2;FAF2,non_coding_transcript_exon_variant,,ENST00000513627,;FAF2,non_coding_transcript_exon_variant,,ENST00000504983,;	G	ENST00000261942	Transcript	missense_variant	595/4515	542/1338	181/445	D/G	gAt/gGt		1		1	FAF2	HGNC	HGNC:24666	protein_coding	YES	CCDS34296.1	ENSP00000261942	Q96CS3		UPI000007478A	NM_014613.2	deleterious(0.03)		6/11		hmmpanther:PTHR23322,hmmpanther:PTHR23322:SF1,SMART_domains:SM00594,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	56	176494057	176494057	A	G	1	0	0	0	0	1	0	0	0	5242	333	12	5		5	FAF2	5	176494057	Missense_Mutation	SNP	A	C3N-00559_TP	18845250	176494057	5044202	14	17899											
MCUR1	0	.	GRCh38	chr6	13814303	13814303	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccgtcggagagcgcagAgaggcagcggcgtgctgagg	9	3	19	10	5	0	4	0	1	0	3	1	6	0	4	1	4	3	3	1	4	0	0	novel		C3N-00559_TP	C3N-00559_NB	A	A																c.127T>A	p.Ser43Thr	p.S43T	ENST00000379170	1/9	1249	725	524	203	203	0	strelka-varscan-mutect	MCUR1,missense_variant,p.Ser43Thr,ENST00000379170,NM_001031713.3;MCUR1,missense_variant,p.Ser43Thr,ENST00000488770,;	T	ENST00000379170	Transcript	missense_variant	266/5471	127/1080	43/359	S/T	Tct/Act		1		-1	MCUR1	HGNC	HGNC:21097	protein_coding	YES	CCDS35495.1	ENSP00000368468	Q96AQ8		UPI0000072AC6	NM_001031713.3	tolerated_low_confidence(0.53)		1/9																			MODERATE	1	SNV	1			1										PASS		rs1434303141	.												T	3	4	56	13814303	13814303	A	T	1	0	0	0	0	1	0	0	0	9340	304	11	4		4	MCUR1	6	13814303	Missense_Mutation	SNP	A	C3N-00559_TP		13814303	156991676	15	17900											
SLC35A1	0	.	GRCh38	chr6	87508419	87508419	+	Splice_Site	DEL	G	G	-																															gcatgtctaattttctttcaGgagtatattttgaaaaagtt																								novel		C3N-00559_TP	C3N-00559_NB	G	G																c.575delG	p.Gly192GlufsTer8	p.X192_splice	ENST00000369552		19	17	2	129	128	1	varindel-pindel	SLC35A1,splice_acceptor_variant,p.Gly192GlufsTer8,ENST00000369552,NM_006416.4;SLC35A1,splice_acceptor_variant,p.Glu151SerfsTer4,ENST00000622775,;SLC35A1,splice_acceptor_variant,,ENST00000544441,;SLC35A1,intron_variant,,ENST00000369556,NM_001168398.1;SLC35A1,intron_variant,,ENST00000369557,;RP3-382I10.7,splice_acceptor_variant,,ENST00000506888,;SLC35A1,splice_acceptor_variant,,ENST00000464978,;	-	ENST00000369552	Transcript	splice_acceptor_variant	-/1851	575/1014	192/337				1		1	SLC35A1	HGNC	HGNC:11021	protein_coding	YES	CCDS5010.1	ENSP00000358565	P78382		UPI0000127BDD	NM_006416.4				5/7																		HIGH	1	deletion	1	1		1										PASS		.	.												-	8	5	56	87508419	87508419	G	-	1	0	1	0	1	0	0	1	0	14840	1014	35	0		0	SLC35A1	6	87508419	Splice_Site	DEL	G	C3N-00559_TP	73694116	87508419	83297560	16	17901											
DGKB	0	.	GRCh38	chr7	14574333	14574333	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatttctgtgctgttttcaAtgtcttttagaattttcatc	7	22	6	6	0	4	2	2	1	2	1	5	2	4	2	0	0	1	2	0	0	3	7	novel		C3N-00559_TP	C3N-00559_NB	A	A																c.1652T>A	p.Ile551Asn	p.I551N	ENST00000403951	20/26	28	24	4	151	151	0	strelka-mutect	DGKB,missense_variant,p.Ile551Asn,ENST00000403951,;DGKB,missense_variant,p.Ile551Asn,ENST00000399322,NM_004080.2;DGKB,missense_variant,p.Ile550Asn,ENST00000402815,;DGKB,missense_variant,p.Ile543Asn,ENST00000407950,;DGKB,missense_variant,p.Ile551Asn,ENST00000406247,NM_145695.2;DGKB,non_coding_transcript_exon_variant,,ENST00000403963,;	T	ENST00000403951	Transcript	missense_variant	2072/6917	1652/2415	551/804	I/N	aTt/aAt		1		-1	DGKB	HGNC	HGNC:2850	protein_coding	YES	CCDS47547.1	ENSP00000385780	Q9Y6T7		UPI0000033B9B		deleterious(0)		20/26		PROSITE_profiles:PS50146,hmmpanther:PTHR11255:SF32,hmmpanther:PTHR11255,Pfam_domain:PF00781,SMART_domains:SM00046,Superfamily_domains:SSF111331																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	56	14574333	14574333	A	T	1	0	0	0	0	1	0	0	0	4272	101	4	4		4	DGKB	7	14574333	Missense_Mutation	SNP	A	C3N-00559_TP		14574333	144771640	17	17902											
EGFR	0	.	GRCh38	chr7	55174772	55174786	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-																															aaaattcccgtcgctatcaaGgaattaagagaagcaacatc																								rs121913421		C3N-00559_TP	C3N-00559_NB	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC																c.2235_2249delGGAATTAAGAGAAGC	p.Glu746_Ala750del	p.E746_A750del	ENST00000275493	19/28	1372	776	596	652	652	0	sindel-varindel-pindel	EGFR,inframe_deletion,p.Glu746_Ala750del,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000454757,;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	-	ENST00000275493	Transcript	inframe_deletion	2412-2426/9821	2235-2249/3633	745-750/1210	KELREA/K	aaGGAATTAAGAGAAGCa/aaa	rs121913421,COSM6223	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1						MODERATE	1	deletion	1		1,1	1										PASS		.	.												-	7	5	56	55174772	55174772	GGAATTAAGAGAAGC	-	1	0	1	0	1	0	0	0	0	4803	991	35	0		0	EGFR	7	55174772	In_Frame_Del	DEL	GGAATTAAGAGAAGC	C3N-00559_TP	40600439	55174772	104171201	18	17903											
WBSCR17	0	.	GRCh38	chr7	71665437	71665437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgggggcagcatggaGgtccttccttgctcacgggt	4	11	15	11	1	2	0	1	0	1	0	4	1	4	1	2	5	2	3	2	5	0	2	novel		C3N-00559_TP	C3N-00559_NB	G	G																c.1107G>T	p.Glu369Asp	p.E369D	ENST00000333538	7/11	211	197	14	147	146	1	strelka-varscan-mutect	WBSCR17,missense_variant,p.Glu369Asp,ENST00000333538,NM_022479.2;WBSCR17,missense_variant,p.Glu290Asp,ENST00000618959,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;	T	ENST00000333538	Transcript	missense_variant	1741/3884	1107/1797	369/598	E/D	gaG/gaT		1		1	WBSCR17	HGNC	HGNC:16347	protein_coding	YES	CCDS5540.1	ENSP00000329654	Q6IS24	Q2L4S5	UPI00000502D5	NM_022479.2	deleterious(0)		7/11		Gene3D:3.90.550.10,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	56	71665437	71665437	G	T	1	0	0	0	0	1	0	0	0	17823	991	35	2		2	WBSCR17	7	71665437	Missense_Mutation	SNP	G	C3N-00559_TP	16490665	71665437	87680536	19	17904											
ZNF804B	0	.	GRCh38	chr7	89335337	89335337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacagaaagagaggaactgCaaattgtgggaatcatttaa	17	8	10	6	0	1	2	1	0	0	2	1	5	1	4	1	2	2	1	1	2	5	3	novel		C3N-00559_TP	C3N-00559_NB	C	C																c.2355C>T	p.=	p.C785C	ENST00000333190	4/4	46	33	13	245	245	0	strelka-varscan-mutect	ZNF804B,synonymous_variant,p.=,ENST00000333190,NM_181646.3;ZNF804B,synonymous_variant,p.=,ENST00000611114,;	T	ENST00000333190	Transcript	synonymous_variant	2964/4659	2355/4050	785/1349	C	tgC/tgT		1		1	ZNF804B	HGNC	HGNC:21958	protein_coding	YES	CCDS5613.1	ENSP00000329638	A4D1E1		UPI00001A92D2	NM_181646.3			4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	56	89335337	89335337	C	T	1	0	0	0	0	0	0	0	1	18756	718	25	3		3	ZNF804B	7	89335337	Silent	SNP	C	C3N-00559_TP	17669900	89335337	70010636	20	17905											
UBN2	0	.	GRCh38	chr7	139269525	139269525	+	Splice_Site	DEL	T	T	-																															gttacatctcaatgtccaggTaagaggaagaacaataatat																								novel		C3N-00559_TP	C3N-00559_NB	T	T																c.1596+2delT		p.X532_splice	ENST00000473989		39	36	3	133	133	0	varindel-pindel	UBN2,splice_donor_variant,,ENST00000473989,NM_173569.3;UBN2,splice_donor_variant,,ENST00000483726,;	-	ENST00000473989	Transcript	splice_donor_variant	-/14444	1596/4044	532/1347				1		1	UBN2	HGNC	HGNC:21931	protein_coding	YES	CCDS43655.2	ENSP00000418648	Q6ZU65		UPI00001D74DF	NM_173569.3				8/17																		HIGH	1	deletion	2			1										PASS		.	.												-	8	5	56	139269525	139269525	T	-	1	0	1	0	1	0	0	1	0	17417	1652	57	0		0	UBN2	7	139269525	Splice_Site	DEL	T	C3N-00559_TP	49934188	139269525	20076448	21	17906											
ZNF282	0	.	GRCh38	chr7	149224224	149224224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagagcttcggcgtgcgcaaGagcctcatcatccaccaccg	10	6	10	15	4	2	2	2	0	0	2	4	2	3	2	4	1	3	2	4	1	2	1	rs762099755		C3N-00559_TP	C3N-00559_NB	G	G																c.1593G>C	p.Lys531Asn	p.K531N	ENST00000610704	8/8	417	377	40	143	143	0	strelka-varscan-mutect	ZNF282,missense_variant,p.Lys531Asn,ENST00000610704,NM_003575.3;ZNF282,intron_variant,,ENST00000479907,NM_001303481.1;ZNF282,non_coding_transcript_exon_variant,,ENST00000470381,;	C	ENST00000610704	Transcript	missense_variant	1698/3722	1593/2016	531/671	K/N	aaG/aaC	rs762099755	1		1	ZNF282	HGNC	HGNC:13076	protein_coding	YES	CCDS5895.1	ENSP00000477841	Q9UDV7	A0A090N8Y3	UPI000013D255	NM_003575.3	tolerated(0.38)		8/8		Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF21,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs762099755	.												C	3	2	56	149224224	149224224	G	C	1	0	0	0	0	1	0	0	0	18395	933	33	4		4	ZNF282	7	149224224	Missense_Mutation	SNP	G	C3N-00559_TP	9954699	149224224	10121749	22	17907											
KAT6A	0	.	GRCh38	chr8	41933027	41933027	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccctggaatcctctcataGatacttatgttcccagtgct	8	14	6	13	0	1	1	1	0	1	1	5	2	4	2	4	1	2	2	4	1	4	4	novel		C3N-00559_TP	C3N-00559_NB	G	G																c.5193C>G	p.Ile1731Met	p.I1731M	ENST00000396930	18/18	356	313	43	184	184	0	strelka-varscan-mutect	KAT6A,missense_variant,p.Ile1731Met,ENST00000396930,NM_001099412.1;KAT6A,missense_variant,p.Ile1731Met,ENST00000406337,NM_001099413.1;KAT6A,missense_variant,p.Ile1731Met,ENST00000265713,NM_006766.3;KAT6A,downstream_gene_variant,,ENST00000418721,;	C	ENST00000396930	Transcript	missense_variant	5737/9285	5193/6015	1731/2004	I/M	atC/atG		1		-1	KAT6A	HGNC	HGNC:13013	protein_coding	YES	CCDS6124.1	ENSP00000380136	Q92794		UPI000013D666	NM_001099412.1	deleterious(0.01)		18/18		hmmpanther:PTHR10615:SF26,hmmpanther:PTHR10615																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	56	41933027	41933027	G	C	1	0	0	0	0	1	0	0	0	7898	932	33	4		4	KAT6A	8	41933027	Missense_Mutation	SNP	G	C3N-00559_TP		41933027	103205609	23	17908											
KAT6A	0	.	GRCh38	chr8	41933439	41933439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctgggtgaggctgctggagGacgacagcccaccgtaggag	8	6	17	10	2	1	1	0	1	1	0	1	5	1	4	2	5	2	3	2	5	1	1	novel		C3N-00559_TP	C3N-00559_NB	G	G																c.4781C>T	p.Ser1594Phe	p.S1594F	ENST00000396930	18/18	257	239	18	65	65	0	strelka-varscan-mutect	KAT6A,missense_variant,p.Ser1594Phe,ENST00000396930,NM_001099412.1;KAT6A,missense_variant,p.Ser1594Phe,ENST00000406337,NM_001099413.1;KAT6A,missense_variant,p.Ser1594Phe,ENST00000265713,NM_006766.3;KAT6A,downstream_gene_variant,,ENST00000418721,;	A	ENST00000396930	Transcript	missense_variant	5325/9285	4781/6015	1594/2004	S/F	tCc/tTc		1		-1	KAT6A	HGNC	HGNC:13013	protein_coding	YES	CCDS6124.1	ENSP00000380136	Q92794		UPI000013D666	NM_001099412.1	deleterious(0)		18/18		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	56	41933439	41933439	G	A	1	0	0	0	0	1	0	0	0	7898	1174	41	3		3	KAT6A	8	41933439	Missense_Mutation	SNP	G	C3N-00559_TP	412	41933439	103205197	24	17909											
PHF20L1	0	.	GRCh38	chr8	132842588	132842588	+	Frame_Shift_Del	DEL	G	G	-																															accaagatcaaataatagctGgggtggagaaaaaaatagct																								novel		C3N-00559_TP	C3N-00559_NB	G	G																c.2464delG	p.Val822TrpfsTer5	p.V822Wfs*5	ENST00000395386	19/21	36	34	2	134	134	0	varindel-pindel	PHF20L1,frameshift_variant,p.Val822TrpfsTer5,ENST00000395386,NM_016018.4;PHF20L1,frameshift_variant,p.Val797TrpfsTer5,ENST00000395390,;PHF20L1,frameshift_variant,p.Val822TrpfsTer5,ENST00000622263,;PHF20L1,frameshift_variant,p.Val796TrpfsTer5,ENST00000220847,NM_001277196.1;AF230666.2,non_coding_transcript_exon_variant,,ENST00000608375,;AF230666.2,intron_variant,,ENST00000429151,;PHF20L1,3_prime_UTR_variant,,ENST00000460236,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000477051,;PHF20L1,downstream_gene_variant,,ENST00000493126,;	-	ENST00000395386	Transcript	frameshift_variant	2760/6237	2461/3054	821/1017	G/X	Ggg/gg		1		1	PHF20L1	HGNC	HGNC:24280	protein_coding	YES	CCDS6367.2	ENSP00000378784	A8MW92		UPI0000DBD7AF	NM_016018.4			19/21		hmmpanther:PTHR15856:SF26,hmmpanther:PTHR15856																	HIGH	1	deletion	5	3		1										PASS		.	.												-	7	5	56	132842588	132842588	G	-	1	0	1	0	1	0	0	0	0	11918	1348	47	0		0	PHF20L1	8	132842588	Frame_Shift_Del	DEL	G	C3N-00559_TP	90909149	132842588	12296048	25	17910											
ZNF189	0	.	GRCh38	chr9	101409144	101409144	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaatcttataaatgtgAtgaatgtgggaaaactttta	16	13	10	2	0	1	3	0	2	1	1	1	5	1	4	0	2	1	0	0	2	8	4	novel		C3N-00559_TP	C3N-00559_NB	A	A																c.1376A>T	p.Asp459Val	p.D459V	ENST00000339664	3/3	19	12	7	139	139	0	strelka-varscan-mutect	ZNF189,missense_variant,p.Asp445Val,ENST00000374861,NM_001278231.1,NM_001278232.1;ZNF189,missense_variant,p.Asp417Val,ENST00000259395,NM_197977.2;ZNF189,missense_variant,p.Asp459Val,ENST00000339664,NM_003452.3;ZNF189,3_prime_UTR_variant,,ENST00000615466,NM_001278240.1;	T	ENST00000339664	Transcript	missense_variant	1505/3021	1376/1881	459/626	D/V	gAt/gTt		1		1	ZNF189	HGNC	HGNC:12980	protein_coding	YES	CCDS6754.1	ENSP00000342019	O75820		UPI000013FAD5	NM_003452.3	deleterious(0.01)		3/3		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF316,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	56	101409144	101409144	A	T	1	0	0	0	0	1	0	0	0	18333	333	12	4		4	ZNF189	9	101409144	Missense_Mutation	SNP	A	C3N-00559_TP		101409144	36985573	26	17911											
GRIN3A	0	.	GRCh38	chr9	101670210	101670210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccaacattttggaggtttGatggccactgttctgccaaa	9	13	10	9	0	1	1	0	1	1	0	2	2	2	2	3	3	2	2	3	3	2	4	rs754316395		C3N-00559_TP	C3N-00559_NB	G	G																c.2202C>G	p.Ile734Met	p.I734M	ENST00000361820	3/9	78	73	5	205	205	0	strelka-varscan	GRIN3A,missense_variant,p.Ile734Met,ENST00000361820,NM_133445.2;	C	ENST00000361820	Transcript	missense_variant	2803/7770	2202/3348	734/1115	I/M	atC/atG	rs754316395	1		-1	GRIN3A	HGNC	HGNC:16767	protein_coding	YES	CCDS6758.1	ENSP00000355155	Q8TCU5		UPI0000367661	NM_133445.2	tolerated(0.06)		3/9		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154,Pfam_domain:PF00060,Gene3D:1.10.287.70,SMART_domains:SM00079																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	56	101670210	101670210	G	C	1	0	0	0	0	1	0	0	0	6665	1280	45	4		4	GRIN3A	9	101670210	Missense_Mutation	SNP	G	C3N-00559_TP	261066	101670210	36724507	27	17912											
FNBP1	0	.	GRCh38	chr9	129927336	129927336	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctttcctccatctcttgTattttctgcaacattagatt	7	19	3	12	0	2	1	0	0	2	1	6	1	5	1	3	0	2	2	3	0	3	7	rs139863276		C3N-00559_TP	C3N-00559_NB	T	T																c.648A>C	p.=	p.I216I	ENST00000446176	8/17	37	33	4	116	116	0	varscan-mutect	FNBP1,synonymous_variant,p.=,ENST00000420781,;FNBP1,synonymous_variant,p.=,ENST00000446176,NM_015033.2;FNBP1,synonymous_variant,p.=,ENST00000443566,;FNBP1,synonymous_variant,p.=,ENST00000449089,;FNBP1,synonymous_variant,p.=,ENST00000355681,;FNBP1,upstream_gene_variant,,ENST00000478129,;FNBP1,upstream_gene_variant,,ENST00000482107,;	G	ENST00000446176	Transcript	synonymous_variant	835/5393	648/1854	216/617	I	atA/atC	rs139863276	1		-1	FNBP1	HGNC	HGNC:17069	protein_coding	YES	CCDS48040.1	ENSP00000413625	Q96RU3		UPI000022408C	NM_015033.2			8/17		PROSITE_profiles:PS51741,hmmpanther:PTHR10663:SF157,hmmpanther:PTHR10663,Gene3D:3.40.50.620,Superfamily_domains:SSF103657																	LOW	1	SNV	1			1										PASS		rs139863276	.												G	2	3	56	129927336	129927336	T	G	1	0	0	0	0	0	0	0	1	5821	1652	57	5		5	FNBP1	9	129927336	Silent	SNP	T	C3N-00559_TP	28257126	129927336	8467381	28	17913											
MARCH8	0	.	GRCh38	chr10	45458508	45458508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgaagccgatggccacaaCcaccaatttagtccaaaagg	14	6	10	11	1	0	1	0	1	0	0	1	2	1	1	5	3	2	0	5	3	6	2	rs756396964		C3N-00559_TP	C3N-00559_NB	C	C																c.1453G>A	p.Val485Ile	p.V485I	ENST00000453424	8/8	34	28	6	87	87	0	varscan-mutect	MARCH8,missense_variant,p.Val485Ile,ENST00000453424,NM_001282866.1;MARCH8,missense_variant,p.Val203Ile,ENST00000319836,NM_145021.5;MARCH8,missense_variant,p.Val203Ile,ENST00000395769,NM_001002266.2;MARCH8,downstream_gene_variant,,ENST00000453980,;MARCH8,non_coding_transcript_exon_variant,,ENST00000476962,;MARCH8,downstream_gene_variant,,ENST00000602712,;	T	ENST00000453424	Transcript	missense_variant	1715/5638	1453/1722	485/573	V/I	Gtt/Att	rs756396964	1		-1	MARCH8	HGNC	HGNC:23356	protein_coding	YES	CCDS60519.1	ENSP00000411848	Q5T0T0		UPI0000EE77CA	NM_001282866.1	deleterious(0.05)		8/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR23012:SF71,hmmpanther:PTHR23012																	MODERATE	1	SNV	1			1										PASS		rs756396964	.												T	3	4	56	45458508	45458508	C	T	1	0	0	0	0	1	0	0	0	9232	507	18	3		3	MARCH8	10	45458508	Missense_Mutation	SNP	C	C3N-00559_TP		45458508	88338914	29	17914											
DRD4	0	.	GRCh38	chr11	640183	640183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcggctccaactgtgctCcccccgacgccgtcagagcc	5	6	10	20	4	1	1	1	0	0	1	3	2	3	1	7	1	4	2	7	1	1	0	rs780003868		C3N-00559_TP	C3N-00559_NB	C	C																c.934C>A	p.Pro312Thr	p.P312T	ENST00000176183	3/4	124	113	11	115	114	1	varscan-mutect	DRD4,missense_variant,p.Pro312Thr,ENST00000176183,NM_000797.3;DEAF1,downstream_gene_variant,,ENST00000382409,NM_021008.3;DEAF1,downstream_gene_variant,,ENST00000527658,;DRD4,downstream_gene_variant,,ENST00000528733,;DEAF1,downstream_gene_variant,,ENST00000527170,;	A	ENST00000176183	Transcript	missense_variant	946/1375	934/1260	312/419	P/T	Ccc/Acc	rs780003868	1		1	DRD4	HGNC	HGNC:3025	protein_coding	YES	CCDS7710.1	ENSP00000176183	P21917		UPI000011F17B	NM_000797.3	tolerated(0.55)		3/4		Pfam_domain:PF00001,PROSITE_profiles:PS50262,SMART_domains:SM01381																	MODERATE	1	SNV	1			1										PASS		rs780003868	.												A	3	1	56	640183	640183	C	A	1	0	0	0	0	1	0	0	0	4578	855	30	2		2	DRD4	11	640183	Missense_Mutation	SNP	C	C3N-00559_TP		640183	134446439	30	17915											
USH1C	0	.	GRCh38	chr11	17509737	17509737	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgtccaaagggatgtcGtccaggtcagtggtgtgcag	10	9	14	8	1	1	0	1	0	0	0	4	1	3	1	2	3	2	1	2	3	2	0	rs142545736		C3N-00559_TP	C3N-00559_NB	G	G																c.1632C>T	p.=	p.D544D	ENST00000005226	18/27	409	332	77	237	237	0	strelka-varscan-mutect	USH1C,synonymous_variant,p.=,ENST00000005226,NM_153676.3;USH1C,intron_variant,,ENST00000527720,;USH1C,intron_variant,,ENST00000318024,NM_005709.3;USH1C,intron_variant,,ENST00000527020,NM_001297764.1;USH1C,intron_variant,,ENST00000529563,;USH1C,downstream_gene_variant,,ENST00000530700,;USH1C,intron_variant,,ENST00000526313,;	A	ENST00000005226	Transcript	synonymous_variant	1632/2700	1632/2700	544/899	D	gaC/gaT	rs142545736	1		-1	USH1C	HGNC	HGNC:12597	protein_coding	YES	CCDS7825.1	ENSP00000005226	Q9Y6N9		UPI00001D965A	NM_153676.3			18/27		hmmpanther:PTHR23116,hmmpanther:PTHR23116:SF36										benign							LOW	1	SNV	5		1	1										PASS		rs142545736	.												A	2	1	56	17509737	17509737	G	A	1	0	0	0	0	0	0	0	1	17568	1136	40	1		1	USH1C	11	17509737	Silent	SNP	G	C3N-00559_TP	16869554	17509737	117576885	31	17916											
RCN1	0	.	GRCh38	chr11	32091206	32091225	+	Frame_Shift_Del	DEL	GGTGGCCGCGGCCGCCGCCT	GGTGGCCGCGGCCGCCGCCT	-																															tcctcgggacgatggcgcgcGgtggccgcggccgccgcctg																								novel		C3N-00559_TP	C3N-00559_NB	GGTGGCCGCGGCCGCCGCCT	GGTGGCCGCGGCCGCCGCCT																c.12_31delTGGCCGCGGCCGCCGCCTGG	p.Gly5ValfsTer40	p.G5Vfs*40	ENST00000054950	1/6	149	136	13	74	74	0	sindel-varindel-pindel	RCN1,frameshift_variant,p.Gly5ValfsTer40,ENST00000054950,NM_002901.2;RCN1,intron_variant,,ENST00000532942,;RCN1,intron_variant,,ENST00000530348,;RCN1,upstream_gene_variant,,ENST00000532721,;	-	ENST00000054950	Transcript	frameshift_variant	303-322/2572	10-29/996	4-10/331	GGRGRRL/X	GGTGGCCGCGGCCGCCGCCTg/g		1		1	RCN1	HGNC	HGNC:9934	protein_coding	YES	CCDS7876.1	ENSP00000054950	Q15293	V9HW95	UPI0000000CA7	NM_002901.2			1/6		Low_complexity_(Seg):seg,hmmpanther:PTHR10827,hmmpanther:PTHR10827:SF17,Cleavage_site_(Signalp):SignalP-noTM																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	56	32091206	32091206	GGTGGCCGCGGCCGCCGCCT	-	1	0	1	0	1	0	0	0	0	13349	1116	39	0		0	RCN1	11	32091206	Frame_Shift_Del	DEL	GGTGGCCGCGGCCGCCGCCT	C3N-00559_TP	14581469	32091206	102995416	32	17917											
OR4C3	0	.	GRCh38	chr11	48325170	48325170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcactatcacctccaGccccacgctggcttcccctg	5	10	8	18	1	2	0	2	0	0	0	4	0	4	0	6	2	1	2	6	2	1	2	novel		C3N-00559_TP	C3N-00559_NB	G	G																c.230G>T	p.Ser77Ile	p.S77I	ENST00000319856	1/1	107	97	10	195	195	0	strelka-varscan-mutect	OR4C3,missense_variant,p.Ser77Ile,ENST00000319856,NM_001004702.1;OR4C3,upstream_gene_variant,,ENST00000611380,;	T	ENST00000319856	Transcript	missense_variant	251/1036	230/990	77/329	S/I	aGc/aTc		1		1	OR4C3	HGNC	HGNC:14697	protein_coding	YES	CCDS31489.1	ENSP00000321419	Q8NH37	A0A126GVR6	UPI0000061EA2	NM_001004702.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF162,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	56	48325170	48325170	G	T	1	0	0	0	0	1	0	0	0	11126	971	34	2		2	OR4C3	11	48325170	Missense_Mutation	SNP	G	C3N-00559_TP	16233964	48325170	86761452	33	17918											
DDB1	0	.	GRCh38	chr11	61332955	61332956	+	Frame_Shift_Ins	INS	-	-	A																															cttctgggccgttaccacgtINSagttgtacgacatgtcgagg																								novel		C3N-00559_TP	C3N-00559_NB	-	-																c.13dupT	p.Tyr5LeufsTer88	p.Y5Lfs*88	ENST00000301764	1/27	271	254	17	140	140	0	sindel-varindel-pindel	DDB1,frameshift_variant,p.Tyr5LeufsTer88,ENST00000301764,NM_001923.4;DDB1,frameshift_variant,p.Tyr5LeufsTer86,ENST00000543658,;DDB1,frameshift_variant,p.Tyr5LeufsTer88,ENST00000542337,;DDB1,frameshift_variant,p.Tyr5LeufsTer88,ENST00000543627,;TKFC,upstream_gene_variant,,ENST00000394900,NM_015533.3;TKFC,upstream_gene_variant,,ENST00000529479,;DDB1,upstream_gene_variant,,ENST00000535283,;TKFC,upstream_gene_variant,,ENST00000532173,;DDB1,upstream_gene_variant,,ENST00000539426,;TKFC,upstream_gene_variant,,ENST00000524968,;DDB1,non_coding_transcript_exon_variant,,ENST00000543162,;TKFC,upstream_gene_variant,,ENST00000530057,;TKFC,upstream_gene_variant,,ENST00000533393,;TKFC,upstream_gene_variant,,ENST00000530456,;TKFC,upstream_gene_variant,,ENST00000525170,;TKFC,upstream_gene_variant,,ENST00000529620,;DDB1,frameshift_variant,p.Tyr5LeufsTer88,ENST00000540166,;DDB1,non_coding_transcript_exon_variant,,ENST00000537120,;TKFC,upstream_gene_variant,,ENST00000529121,;TKFC,upstream_gene_variant,,ENST00000531820,;DDB1,upstream_gene_variant,,ENST00000538129,;	A	ENST00000301764	Transcript	frameshift_variant	411-412/4506	13-14/3423	5/1140	Y/LX	tac/tTac		1		-1	DDB1	HGNC	HGNC:2717	protein_coding	YES	CCDS31576.1	ENSP00000301764	Q16531		UPI0000000CB7	NM_001923.4			1/27		hmmpanther:PTHR10644																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	56	61332955	61332955	-	A	1	0	1	1	0	0	0	0	0	4126	1638	57	0		0	DDB1	11	61332955	Frame_Shift_Ins	INS	-	C3N-00559_TP	13007785	61332955	73753667	34	17919											
SLCO2B1	0	.	GRCh38	chr11	75193430	75193430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcatcgtggtgggtggcGtcctggtcaagcggctccac	4	9	17	11	3	1	0	1	0	0	0	4	0	3	0	2	6	1	2	2	6	1	0	rs374986387		C3N-00559_TP	C3N-00559_NB	G	G																c.1288G>A	p.Val430Ile	p.V430I	ENST00000289575	9/14	173	156	17	82	82	0	strelka-mutect	SLCO2B1,missense_variant,p.Val430Ile,ENST00000289575,NM_007256.4;SLCO2B1,missense_variant,p.Val203Ile,ENST00000454962,;SLCO2B1,missense_variant,p.Val314Ile,ENST00000532236,;SLCO2B1,missense_variant,p.Val408Ile,ENST00000428359,NM_001145211.2;SLCO2B1,missense_variant,p.Val286Ile,ENST00000525650,NM_001145212.2;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000531756,;SLCO2B1,upstream_gene_variant,,ENST00000530012,;SLCO2B1,upstream_gene_variant,,ENST00000528108,;	A	ENST00000289575	Transcript	missense_variant	1683/4494	1288/2130	430/709	V/I	Gtc/Atc	rs374986387	1		1	SLCO2B1	HGNC	HGNC:10962	protein_coding	YES	CCDS8235.1	ENSP00000289575		A0A024R5I4	UPI000000D99A	NM_007256.4	tolerated(0.96)		9/14		Gene3D:1.20.1250.20,Pfam_domain:PF03137,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF87,Low_complexity_(Seg):seg,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs374986387	.												A	3	1	56	75193430	75193430	G	A	1	0	0	0	0	1	0	0	0	15014	1145	40	1		1	SLCO2B1	11	75193430	Missense_Mutation	SNP	G	C3N-00559_TP	13860475	75193430	59893192	35	17920											
KCNA1	0	.	GRCh38	chr12	4911874	4911874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccgagagctcggggcccGccagggtcatcgccatcgtc	6	5	13	17	5	1	1	1	0	0	1	5	2	1	1	5	3	1	1	5	3	0	0	novel		C3N-00559_TP	C3N-00559_NB	G	G																c.496G>A	p.Ala166Thr	p.A166T	ENST00000382545	2/2	336	318	18	119	119	0	strelka-varscan-mutect	KCNA1,missense_variant,p.Ala166Thr,ENST00000382545,NM_000217.2;KCNA1,intron_variant,,ENST00000543874,;KCNA1,intron_variant,,ENST00000541095,;	A	ENST00000382545	Transcript	missense_variant	1603/7976	496/1488	166/495	A/T	Gcc/Acc		1		1	KCNA1	HGNC	HGNC:6218	protein_coding	YES	CCDS8535.1	ENSP00000371985	Q09470		UPI000013C8E0	NM_000217.2	deleterious(0)		2/2		Gene3D:1.20.120.350,Prints_domain:PR00169,Prints_domain:PR01496,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF24,Superfamily_domains:SSF81324																	MODERATE	1	SNV	4			1										PASS		rs1179635654	.												A	3	1	56	4911874	4911874	G	A	1	0	0	0	0	1	0	0	0	7917	1087	38	1		1	KCNA1	12	4911874	Missense_Mutation	SNP	G	C3N-00559_TP		4911874	128363435	36	17921											
PRB2	0	.	GRCh38	chr12	11393924	11393924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggctttcctggaggagAtgggggaccttgaggtttgt	5	14	17	5	0	0	2	0	1	0	1	1	5	1	4	2	6	0	2	2	6	0	4	rs202119309		C3N-00559_TP	C3N-00559_NB	A	A																c.154T>C	p.Ser52Pro	p.S52P	ENST00000389362	3/4	126	113	13	101	100	1	varscan-mutect	PRB2,missense_variant,p.Ser52Pro,ENST00000389362,NM_006248.3;PRB1,intron_variant,,ENST00000546254,;PRB2,downstream_gene_variant,,ENST00000565533,;PRB2,downstream_gene_variant,,ENST00000545829,;	G	ENST00000389362	Transcript	missense_variant	190/1429	154/1251	52/416	S/P	Tct/Cct	rs202119309	1		-1	PRB2	HGNC	HGNC:9338	protein_coding	YES	CCDS41757.2	ENSP00000374013	P02812		UPI0000EE5993	NM_006248.3	tolerated_low_confidence(0.79)		3/4		Low_complexity_(Seg):seg,Pfam_domain:PF15240,SMART_domains:SM01412																	MODERATE	1	SNV	5			1										PASS		rs202119309	.												G	3	3	56	11393924	11393924	A	G	1	0	0	0	0	1	0	0	0	12574	333	12	5		5	PRB2	12	11393924	Missense_Mutation	SNP	A	C3N-00559_TP	6482050	11393924	121881385	37	17922											
C2CD5	0	.	GRCh38	chr12	22506710	22506710	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaaactttttaagaacataCcaggattgtggatacgatcc	14	12	8	7	1	0	2	0	1	0	1	1	5	1	4	2	2	4	0	2	2	5	6	novel		C3N-00559_TP	C3N-00559_NB	C	C																c.1120+1G>T		p.X374_splice	ENST00000545552		59	55	4	167	167	0	varscan-mutect	C2CD5,splice_donor_variant,,ENST00000333957,NM_014802.2;C2CD5,splice_donor_variant,,ENST00000536386,NM_001286173.1;C2CD5,splice_donor_variant,,ENST00000446597,NM_001286176.1,NM_001286174.1;C2CD5,splice_donor_variant,,ENST00000545552,NM_001286175.1;C2CD5,splice_donor_variant,,ENST00000396028,NM_001286177.1;C2CD5,splice_donor_variant,,ENST00000542676,;C2CD5,splice_donor_variant,,ENST00000535555,;C2CD5,splice_donor_variant,,ENST00000543855,;C2CD5,splice_donor_variant,,ENST00000541310,;C2CD5,splice_donor_variant,,ENST00000543797,;C2CD5,intron_variant,,ENST00000542683,;	A	ENST00000545552	Transcript	splice_donor_variant	-/3471	1120/3165	374/1054				1		-1	C2CD5	HGNC	HGNC:29062	protein_coding	YES	CCDS66339.1	ENSP00000443204	Q86YS7		UPI000204AC3E	NM_001286175.1				10/27																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	56	22506710	22506710	C	A	1	0	0	0	0	0	0	1	0	2030	521	18	2		2	C2CD5	12	22506710	Splice_Site	SNP	C	C3N-00559_TP	11112786	22506710	110768599	38	17923											
VEZT	0	.	GRCh38	chr12	95300579	95300579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagaagtggctgctagatCtctctcctttaccaccatgc	8	12	8	13	0	2	2	0	0	2	2	4	2	2	2	3	1	4	3	3	1	3	3	rs777106680		C3N-00559_TP	C3N-00559_NB	C	C																c.2246C>T	p.Ser749Phe	p.S749F	ENST00000436874	12/12	199	158	41	255	255	0	strelka-varscan-mutect	VEZT,missense_variant,p.Ser749Phe,ENST00000436874,NM_017599.3;VEZT,missense_variant,p.Ser705Phe,ENST00000397792,;VEZT,3_prime_UTR_variant,,ENST00000261219,;VEZT,non_coding_transcript_exon_variant,,ENST00000356859,;VEZT,non_coding_transcript_exon_variant,,ENST00000550106,;VEZT,downstream_gene_variant,,ENST00000552306,;VEZT,downstream_gene_variant,,ENST00000551695,;VEZT,downstream_gene_variant,,ENST00000546951,;VEZT,3_prime_UTR_variant,,ENST00000547997,;VEZT,3_prime_UTR_variant,,ENST00000552660,;VEZT,3_prime_UTR_variant,,ENST00000551994,;VEZT,3_prime_UTR_variant,,ENST00000548838,;VEZT,downstream_gene_variant,,ENST00000549192,;	T	ENST00000436874	Transcript	missense_variant	2351/4562	2246/2340	749/779	S/F	tCt/tTt	rs777106680	1		1	VEZT	HGNC	HGNC:18258	protein_coding	YES	CCDS44954.1	ENSP00000410083	Q9HBM0		UPI00001FB2EC	NM_017599.3	deleterious(0)		12/12		hmmpanther:PTHR15989:SF5,hmmpanther:PTHR15989																	MODERATE	1	SNV	1			1										PASS		rs777106680	.												T	3	4	56	95300579	95300579	C	T	1	0	0	0	0	1	0	0	0	17702	913	32	3		3	VEZT	12	95300579	Missense_Mutation	SNP	C	C3N-00559_TP	72793869	95300579	37974730	39	17924											
MYH7	0	.	GRCh38	chr14	23431603	23431603	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaagcgggaggagttgtcGttccggacggtcttggcatt	7	10	16	8	5	1	0	0	0	1	0	3	4	2	3	1	5	1	3	1	5	1	4	rs202141819		C3N-00559_TP	C3N-00559_NB	G	G																c.714C>T	p.=	p.N238N	ENST00000355349	8/40	1489	1414	75	619	619	0	strelka-varscan	MYH7,synonymous_variant,p.=,ENST00000355349,NM_000257.3;	A	ENST00000355349	Transcript	synonymous_variant	877/6087	714/5808	238/1935	N	aaC/aaT	rs202141819,COSM3983194,COSM698143	1		-1	MYH7	HGNC	HGNC:7577	protein_coding	YES	CCDS9601.1	ENSP00000347507	P12883		UPI000014019B	NM_000257.3			8/40		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF413,SMART_domains:SM00242,Superfamily_domains:SSF52540										benign	0,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												A	2	1	56	23431603	23431603	G	A	1	0	0	0	0	0	0	0	1	10039	1136	40	1		1	MYH7	14	23431603	Silent	SNP	G	C3N-00559_TP		23431603	83612115	40	17925											
GPR135	0	.	GRCh38	chr14	59464968	59464968	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctccgggcctagcggccGcctcaccgccgcccccgcct	2	4	11	24	7	1	0	1	0	0	0	2	0	2	0	10	2	1	0	10	2	1	1	novel		C3N-00559_TP	C3N-00559_NB	G	G																c.259C>G	p.Arg87Gly	p.R87G	ENST00000395116	1/1	396	309	87	137	137	0	strelka-varscan-mutect	GPR135,missense_variant,p.Arg87Gly,ENST00000395116,NM_022571.5;L3HYPDH,intron_variant,,ENST00000466522,;GPR135,missense_variant,p.Arg87Gly,ENST00000481661,;	C	ENST00000395116	Transcript	missense_variant	375/4578	259/1485	87/494	R/G	Cgg/Ggg		1		-1	GPR135	HGNC	HGNC:19991	protein_coding	YES	CCDS9738.1	ENSP00000378548	Q8IZ08		UPI0000046D5B	NM_022571.5	tolerated_low_confidence(0.49)		1/1		hmmpanther:PTHR22752,hmmpanther:PTHR22752:SF3																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	56	59464968	59464968	G	C	1	0	0	0	0	1	0	0	0	6530	1086	38	4		4	GPR135	14	59464968	Missense_Mutation	SNP	G	C3N-00559_TP	36033365	59464968	47578750	41	17926											
DYNC1H1	0	.	GRCh38	chr14	102039103	102039103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacacgatcataaccactcTggagaacctgaagagagagg	15	5	11	10	2	2	4	1	1	1	3	2	8	2	4	2	2	2	0	2	2	3	1	novel		C3N-00559_TP	C3N-00559_NB	T	T																c.11309T>C	p.Leu3770Pro	p.L3770P	ENST00000360184	60/78	713	503	210	571	571	0	strelka-varscan-mutect	DYNC1H1,missense_variant,p.Leu3770Pro,ENST00000360184,NM_001376.4;DYNC1H1,downstream_gene_variant,,ENST00000553423,;RP11-1017G21.4,intron_variant,,ENST00000557551,;RP11-1017G21.4,intron_variant,,ENST00000557242,;RP11-1017G21.4,intron_variant,,ENST00000553701,;DYNC1H1,downstream_gene_variant,,ENST00000556791,;DYNC1H1,upstream_gene_variant,,ENST00000555102,;DYNC1H1,upstream_gene_variant,,ENST00000556139,;DYNC1H1,upstream_gene_variant,,ENST00000556499,;DYNC1H1,downstream_gene_variant,,ENST00000555800,;	C	ENST00000360184	Transcript	missense_variant	11473/14333	11309/13941	3770/4646	L/P	cTg/cCg		1		1	DYNC1H1	HGNC	HGNC:2961	protein_coding	YES	CCDS9966.1	ENSP00000348965	Q14204		UPI00001B515A	NM_001376.4	deleterious(0)		60/78		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	56	102039103	102039103	T	C	1	0	0	0	0	1	0	0	0	4665	1580	55	5		5	DYNC1H1	14	102039103	Missense_Mutation	SNP	T	C3N-00559_TP	42574135	102039103	5004615	42	17927											
ZFYVE21	0	.	GRCh38	chr14	103729090	103729090	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacacttttatttgatgtaGatacttgtttctggatggag	9	17	11	4	0	1	2	0	1	1	1	1	5	1	5	0	3	1	2	0	3	3	7	novel		C3N-00559_TP	C3N-00559_NB	G	G																c.435-1G>C		p.X145_splice	ENST00000216602		281	211	70	174	174	0	strelka-varscan-mutect	ZFYVE21,splice_acceptor_variant,,ENST00000216602,NM_001198953.1;ZFYVE21,splice_acceptor_variant,,ENST00000311141,NM_024071.3;ZFYVE21,splice_acceptor_variant,,ENST00000555163,;PPP1R13B,downstream_gene_variant,,ENST00000202556,NM_015316.2;Y_RNA,upstream_gene_variant,,ENST00000517287,;ZFYVE21,splice_acceptor_variant,,ENST00000555501,;ZFYVE21,splice_acceptor_variant,,ENST00000553724,;ZFYVE21,splice_acceptor_variant,,ENST00000554630,;ZFYVE21,splice_acceptor_variant,,ENST00000556795,;ZFYVE21,splice_acceptor_variant,,ENST00000556610,;PPP1R13B,downstream_gene_variant,,ENST00000556597,;PPP1R13B,downstream_gene_variant,,ENST00000555825,;ZFYVE21,upstream_gene_variant,,ENST00000554757,;PPP1R13B,downstream_gene_variant,,ENST00000557587,;ZFYVE21,downstream_gene_variant,,ENST00000553512,;ZFYVE21,downstream_gene_variant,,ENST00000554255,;ZFYVE21,upstream_gene_variant,,ENST00000602552,;	C	ENST00000216602	Transcript	splice_acceptor_variant	-/1521	435/759	145/252				1		1	ZFYVE21	HGNC	HGNC:20760	protein_coding	YES	CCDS55948.1	ENSP00000216602	Q9BQ24		UPI000006E373	NM_001198953.1				4/7																		HIGH		SNV	2			1										PASS		.	.												C	5	2	56	103729090	103729090	G	C	1	0	0	0	0	0	0	1	0	18244	956	33	4		4	ZFYVE21	14	103729090	Splice_Site	SNP	G	C3N-00559_TP	1689987	103729090	3314628	43	17928											
GTF3C1	0	.	GRCh38	chr16	27461442	27461442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggctcatagaaagccaTggggctctcgtccaggctgg	7	8	16	10	1	2	1	1	0	1	1	4	1	3	1	2	6	1	3	2	6	2	1	novel		C3N-00559_TP	C3N-00559_NB	T	T																c.6238A>G	p.Met2080Val	p.M2080V	ENST00000356183	37/37	693	576	117	224	223	1	strelka-varscan-mutect	GTF3C1,missense_variant,p.Met2080Val,ENST00000356183,NM_001520.3;GTF3C1,missense_variant,p.Met2055Val,ENST00000561623,NM_001286242.1;GTF3C1,missense_variant,p.Met185Val,ENST00000569653,;GTF3C1,upstream_gene_variant,,ENST00000567806,;GTF3C1,non_coding_transcript_exon_variant,,ENST00000562609,;GTF3C1,non_coding_transcript_exon_variant,,ENST00000564747,;	C	ENST00000356183	Transcript	missense_variant	6254/7018	6238/6330	2080/2109	M/V	Atg/Gtg		1		-1	GTF3C1	HGNC	HGNC:4664	protein_coding	YES	CCDS32414.1	ENSP00000348510	Q12789		UPI00001FF123	NM_001520.3	tolerated(0.56)		37/37		hmmpanther:PTHR15180,hmmpanther:PTHR15180:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	56	27461442	27461442	T	C	1	0	0	0	0	1	0	0	0	6753	1464	51	5		5	GTF3C1	16	27461442	Missense_Mutation	SNP	T	C3N-00559_TP		27461442	62876903	44	17929											
APOBR	0	.	GRCh38	chr16	28497625	28497625	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcccgcgggctcccagAcagcgagggcagaggggatg	8	4	18	11	3	0	2	0	0	0	2	2	5	2	4	2	5	1	2	2	5	0	0	novel		C3N-00559_TP	C3N-00559_NB	A	A																c.2584A>G	p.Thr862Ala	p.T862A	ENST00000564831	2/4	231	191	40	50	50	0	strelka-varscan-mutect	APOBR,missense_variant,p.Thr862Ala,ENST00000564831,NM_018690.3;APOBR,missense_variant,p.Thr853Ala,ENST00000431282,;CLN3,upstream_gene_variant,,ENST00000569430,;IL27,downstream_gene_variant,,ENST00000356897,NM_145659.3;IL27,downstream_gene_variant,,ENST00000568075,;CLN3,upstream_gene_variant,,ENST00000567804,;CLN3,upstream_gene_variant,,ENST00000636355,;CLN3,upstream_gene_variant,,ENST00000567160,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000637110,;CLN3,upstream_gene_variant,,ENST00000566472,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000637686,;CLN3,upstream_gene_variant,,ENST00000563874,;	G	ENST00000564831	Transcript	missense_variant	2617/3792	2584/3294	862/1097	T/A	Aca/Gca		1		1	APOBR	HGNC	HGNC:24087	protein_coding	YES	CCDS58442.1	ENSP00000457539	Q0VD83		UPI000013EFFC	NM_018690.3	tolerated(1)		2/4		hmmpanther:PTHR15964:SF0,hmmpanther:PTHR15964																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	56	28497625	28497625	A	G	1	0	0	0	0	1	0	0	0	918	275	10	5		5	APOBR	16	28497625	Missense_Mutation	SNP	A	C3N-00559_TP	1036183	28497625	61840720	45	17930											
ZZEF1	0	.	GRCh38	chr17	4090832	4090832	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagatgagcaaccaatccTgtaaagacaagagtattcac	17	8	7	9	0	2	4	2	1	0	3	3	4	3	4	2	0	2	3	2	0	6	3	novel		C3N-00559_TP	C3N-00559_NB	T	T																c.1914-2A>G		p.X638_splice	ENST00000381638		39	34	5	160	159	1	varscan-mutect	ZZEF1,splice_acceptor_variant,,ENST00000381638,NM_015113.3;ZZEF1,splice_acceptor_variant,,ENST00000574474,;	C	ENST00000381638	Transcript	splice_acceptor_variant	-/11456	1914/8886	638/2961				1		-1	ZZEF1	HGNC	HGNC:29027	protein_coding	YES	CCDS11043.1	ENSP00000371051	O43149		UPI00004569F7	NM_015113.3				11/54																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	56	4090832	4090832	T	C	1	0	0	0	0	0	0	1	0	18859	1594	55	5		5	ZZEF1	17	4090832	Splice_Site	SNP	T	C3N-00559_TP		4090832	79166609	46	17931											
SPNS2	0	.	GRCh38	chr17	4533806	4533806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatctgtatcttcgtcgggGagacgctgctgttttctaac	7	14	11	9	3	3	2	0	0	3	2	5	3	3	2	0	2	2	4	0	2	2	5	novel		C3N-00559_TP	C3N-00559_NB	G	G																c.1297G>A	p.Glu433Lys	p.E433K	ENST00000329078	9/13	551	517	34	269	269	0	strelka-varscan-mutect	SPNS2,missense_variant,p.Glu433Lys,ENST00000329078,NM_001124758.1;SPNS2,missense_variant,p.Glu103Lys,ENST00000571386,;SPNS2,non_coding_transcript_exon_variant,,ENST00000576635,;SPNS2,non_coding_transcript_exon_variant,,ENST00000573106,;SPNS2,non_coding_transcript_exon_variant,,ENST00000573990,;SPNS2,non_coding_transcript_exon_variant,,ENST00000571668,;SPNS2,upstream_gene_variant,,ENST00000570979,;SPNS2,upstream_gene_variant,,ENST00000570641,;	A	ENST00000329078	Transcript	missense_variant	1507/3447	1297/1650	433/549	E/K	Gag/Aag		1		1	SPNS2	HGNC	HGNC:26992	protein_coding	YES	CCDS42237.1	ENSP00000333292	Q8IVW8		UPI00001C1FCB	NM_001124758.1	deleterious(0.01)		9/13		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR23505:SF4,hmmpanther:PTHR23505,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	56	4533806	4533806	G	A	1	0	0	0	0	1	0	0	0	15428	1175	41	3		3	SPNS2	17	4533806	Missense_Mutation	SNP	G	C3N-00559_TP	442974	4533806	78723635	47	17932											
TP53	0	.	GRCh38	chr17	7673802	7673802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576		C3N-00559_TP	C3N-00559_NB	C	C																c.818G>A	p.Arg273His	p.R273H	ENST00000269305	8/11	879	516	363	759	759	0	strelka-varscan-mutect	TP53,missense_variant,p.Arg273His,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Arg273His,ENST00000420246,;TP53,missense_variant,p.Arg234His,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Arg234His,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg273His,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Arg234His,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Arg273His,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Arg234His,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Arg273His,ENST00000445888,;TP53,missense_variant,p.Arg234His,ENST00000619485,;TP53,missense_variant,p.Arg141His,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Arg114His,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Arg141His,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Arg114His,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Arg141His,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Arg114His,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Arg273His,ENST00000359597,;TP53,missense_variant,p.Arg262His,ENST00000615910,;TP53,missense_variant,p.Arg141His,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Arg234His,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	T	ENST00000269305	Transcript	missense_variant	1008/2579	818/1182	273/393	R/H	cGt/cAt	rs28934576,CM004342,CM010472,CM920677,TP53_g.13798G>C,TP53_g.13798del,TP53_g.13798G>A,TP53_g.13798G>T,COSM10660,COSM10779,COSM1640828,COSM1645335,COSM1646808,COSM165077,COSM318169,COSM3356963,COSM3675521,COSM3726798,COSM43896,COSM44440,COSM99729	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	tolerated(0.13)		8/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										pathogenic	0,0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	25105660					MODERATE	1	SNV	1		1,1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs28934576	.												T	3	4	56	7673802	7673802	C	T	1	0	0	0	0	1	0	0	0	16859	536	19	1		1	TP53	17	7673802	Missense_Mutation	SNP	C	C3N-00559_TP	3139996	7673802	75583639	48	17933											
CDH2	0	.	GRCh38	chr18	28176992	28176992	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccagcagcggcagcaGggtccgcagcgctcccgcta	6	3	15	17	5	0	0	0	0	0	0	2	0	2	0	4	3	4	6	4	3	1	1	novel		C3N-00559_TP	C3N-00559_NB	G	G																c.31C>G	p.Leu11Val	p.L11V	ENST00000269141	1/16	292	236	56	106	106	0	strelka-varscan-mutect	CDH2,missense_variant,p.Leu11Val,ENST00000269141,NM_001792.3;	C	ENST00000269141	Transcript	missense_variant	455/4332	31/2721	11/906	L/V	Ctg/Gtg		1		-1	CDH2	HGNC	HGNC:1759	protein_coding	YES	CCDS11891.1	ENSP00000269141	P19022	A0A024RC42	UPI000013D7FD	NM_001792.3	tolerated(0.54)		1/16		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs1351191506	.												C	3	2	56	28176992	28176992	G	C	1	0	0	0	0	1	0	0	0	2808	991	35	4		4	CDH2	18	28176992	Missense_Mutation	SNP	G	C3N-00559_TP		28176992	52196293	49	17934											
ADGRE2	0	.	GRCh38	chr19	14766987	14766987	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggcctctacctgtgcagaGcttcgggtcctcaggtttga	5	11	14	11	1	2	2	1	1	1	1	4	2	3	2	3	4	3	3	3	4	1	3	rs12976472		C3N-00559_TP	C3N-00559_NB	G	G																c.478C>G	p.Leu160Val	p.L160V	ENST00000315576	6/21	197	180	17	66	65	1	varscan-mutect	ADGRE2,missense_variant,p.Leu160Val,ENST00000315576,NM_013447.3;ADGRE2,missense_variant,p.Leu160Val,ENST00000601345,;ADGRE2,missense_variant,p.Leu160Val,ENST00000596991,;ADGRE2,missense_variant,p.Leu160Val,ENST00000392965,NM_001271052.1;ADGRE2,missense_variant,p.Leu160Val,ENST00000594294,;ADGRE2,intron_variant,,ENST00000594076,;ADGRE2,intron_variant,,ENST00000595839,;ADGRE2,downstream_gene_variant,,ENST00000599423,;ADGRE2,downstream_gene_variant,,ENST00000601619,;ADGRE2,missense_variant,p.Leu53Val,ENST00000595208,;ADGRE2,missense_variant,p.Leu160Val,ENST00000392962,;ADGRE2,non_coding_transcript_exon_variant,,ENST00000360222,;ADGRE2,downstream_gene_variant,,ENST00000598500,;	C	ENST00000315576	Transcript	missense_variant	930/6767	478/2472	160/823	L/V	Ctc/Gtc	rs12976472	1		-1	ADGRE2	HGNC	HGNC:3337	protein_coding	YES	CCDS32935.1	ENSP00000319883	Q9UHX3		UPI000016393A	NM_013447.3	tolerated(0.59)		6/21		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF286,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184										not_provided							MODERATE	1	SNV	1		1	1										PASS		rs12976472	.												C	3	2	56	14766987	14766987	G	C	1	0	0	0	0	1	0	0	0	360	971	34	4		4	ADGRE2	19	14766987	Missense_Mutation	SNP	G	C3N-00559_TP		14766987	43850629	50	17935											
ZNF135	0	.	GRCh38	chr19	58067119	58067119	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaacctgtgtaaaagagaAaccctacaaatgtcaggaat	19	7	8	7	0	1	1	1	0	0	1	1	4	1	2	2	1	3	1	2	1	8	2	novel		C3N-00559_TP	C3N-00559_NB	A	A																c.707A>T	p.Lys236Ile	p.K236I	ENST00000401053	4/4	217	154	63	339	339	0	strelka-varscan-mutect	ZNF135,missense_variant,p.Lys170Ile,ENST00000506786,NM_001289402.1;ZNF135,missense_variant,p.Lys236Ile,ENST00000401053,NM_001164529.1,NM_007134.1;ZNF135,missense_variant,p.Lys212Ile,ENST00000313434,NM_001289401.1;ZNF135,missense_variant,p.Lys224Ile,ENST00000511556,NM_003436.3;ZNF135,missense_variant,p.Lys224Ile,ENST00000359978,NM_001164530.1;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;	T	ENST00000401053	Transcript	missense_variant	710/3346	707/2049	236/682	K/I	aAa/aTa		1		1	ZNF135	HGNC	HGNC:12919	protein_coding	YES	CCDS54329.1	ENSP00000441410	P52742		UPI0001B3CB2A	NM_001164529.1,NM_007134.1	deleterious(0)		4/4		Gene3D:3.30.160.60,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF250,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	56	58067119	58067119	A	T	1	0	0	0	0	1	0	0	0	18306	14	1	4		4	ZNF135	19	58067119	Missense_Mutation	SNP	A	C3N-00559_TP	43300132	58067119	550497	51	17936											
SLC12A5	0	.	GRCh38	chr20	46051831	46051831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctggccccgcaactggCgccagaaggaagatcatcag	10	6	13	12	2	2	2	2	0	0	2	2	3	2	3	3	4	1	2	3	4	3	1	rs757395459		C3N-00559_TP	C3N-00559_NB	C	C																c.2407C>T	p.Arg803Cys	p.R803C	ENST00000454036	18/26	355	305	50	127	127	0	strelka-varscan-mutect	SLC12A5,missense_variant,p.Arg780Cys,ENST00000243964,NM_020708.4;SLC12A5,missense_variant,p.Arg803Cys,ENST00000454036,NM_001134771.1;SLC12A5,3_prime_UTR_variant,,ENST00000616933,;SLC12A5,intron_variant,,ENST00000616201,;SLC12A5,intron_variant,,ENST00000616202,;SLC12A5,intron_variant,,ENST00000626937,;SLC12A5,downstream_gene_variant,,ENST00000539566,;SLC12A5,upstream_gene_variant,,ENST00000628413,;	T	ENST00000454036	Transcript	missense_variant	2483/3593	2407/3420	803/1139	R/C	Cgc/Tgc	rs757395459,COSM188914	1		1	SLC12A5	HGNC	HGNC:13818	protein_coding	YES	CCDS46610.1	ENSP00000387694	Q9H2X9		UPI00015F4605	NM_001134771.1	deleterious(0.02)		18/26		hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,Pfam_domain:PF03522,TIGRFAM_domain:TIGR00930											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs757395459	.												T	3	4	56	46051831	46051831	C	T	1	0	0	0	0	1	0	0	0	14651	768	27	1		1	SLC12A5	20	46051831	Missense_Mutation	SNP	C	C3N-00559_TP		46051831	18392336	52	17937											
FMR1NB	0	.	GRCh38	chrX	148003231	148003231	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtgcttgcaaatggacAtatcctgcccaacagtgaaa	12	12	8	9	0	0	1	0	1	0	0	1	2	1	2	2	1	4	2	2	1	4	4	rs782753814		C3N-00559_TP	C3N-00559_NB	A	A																c.308A>T	p.His103Leu	p.H103L	ENST00000370467	2/6	50	43	7	176	176	0	strelka-mutect	FMR1NB,missense_variant,p.His103Leu,ENST00000370467,NM_152578.2;5S_rRNA,downstream_gene_variant,,ENST00000364415,;FMR1NB,upstream_gene_variant,,ENST00000489034,;	T	ENST00000370467	Transcript	missense_variant	382/1021	308/768	103/255	H/L	cAt/cTt	rs782753814	1		1	FMR1NB	HGNC	HGNC:26372	protein_coding	YES	CCDS14683.1	ENSP00000359498	Q8N0W7		UPI0000062299	NM_152578.2	tolerated(0.61)		2/6		hmmpanther:PTHR37360:SF1,hmmpanther:PTHR37360																	MODERATE	1	SNV	1			1										PASS		rs782753814	.												T	3	4	56	148003231	148003231	A	T	1	0	0	0	0	1	0	0	0	5817	217	8	4		4	FMR1NB	23	148003231	Missense_Mutation	SNP	A	C3N-00559_TP		148003231	8037664	53	17938											
L1CAM	0	.	GRCh38	chrX	153868609	153868609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattgttttggtcattggCagccaggcagaagtagcgtc	10	11	12	8	1	1	1	1	0	0	1	2	1	1	1	1	3	3	4	1	3	3	5	novel		C3N-00559_TP	C3N-00559_NB	C	C																c.1498G>T	p.Ala500Ser	p.A500S	ENST00000370060	13/29	1227	1156	71	545	545	0	strelka-varscan-mutect	L1CAM,missense_variant,p.Ala500Ser,ENST00000370060,NM_001278116.1,NM_000425.4;L1CAM,missense_variant,p.Ala495Ser,ENST00000361981,NM_001143963.2;L1CAM,missense_variant,p.Ala495Ser,ENST00000370055,;L1CAM,missense_variant,p.Ala500Ser,ENST00000361699,NM_024003.3;L1CAM,upstream_gene_variant,,ENST00000370058,;L1CAM,downstream_gene_variant,,ENST00000439496,;L1CAM,downstream_gene_variant,,ENST00000458029,;L1CAM,downstream_gene_variant,,ENST00000407935,;L1CAM,upstream_gene_variant,,ENST00000455590,;L1CAM,downstream_gene_variant,,ENST00000420165,;L1CAM,non_coding_transcript_exon_variant,,ENST00000496122,;L1CAM,non_coding_transcript_exon_variant,,ENST00000484652,;L1CAM,upstream_gene_variant,,ENST00000491983,;L1CAM,downstream_gene_variant,,ENST00000464967,;L1CAM,upstream_gene_variant,,ENST00000474853,;L1CAM,downstream_gene_variant,,ENST00000460553,;	A	ENST00000370060	Transcript	missense_variant	1688/5113	1498/3774	500/1257	A/S	Gcc/Tcc		1		-1	L1CAM	HGNC	HGNC:6470	protein_coding	YES	CCDS14733.1	ENSP00000359077	P32004		UPI0000126E89	NM_001278116.1,NM_000425.4	tolerated(0.76)		13/29		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF593,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	56	153868609	153868609	C	A	1	0	0	0	0	1	0	0	0	8489	710	25	2		2	L1CAM	23	153868609	Missense_Mutation	SNP	C	C3N-00559_TP	5865378	153868609	2172286	54	17939											
PERM1	0	.	GRCh38	chr1	979410	979410	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgacagccacagcctcccaGgctccgggccccccgtgggc	5	3	12	21	3	0	0	0	0	0	0	2	1	2	0	8	3	2	1	8	3	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1620C>A	p.=	p.A540A	ENST00000433179	1/3	56	32	24	54	54	0	strelka-mutect	PERM1,synonymous_variant,p.=,ENST00000433179,NM_001291366.1;PERM1,synonymous_variant,p.=,ENST00000341290,NM_001291367.1;PLEKHN1,downstream_gene_variant,,ENST00000379409,;PLEKHN1,downstream_gene_variant,,ENST00000379410,NM_032129.2;PLEKHN1,downstream_gene_variant,,ENST00000379407,NM_001160184.1;PLEKHN1,downstream_gene_variant,,ENST00000491024,;PERM1,upstream_gene_variant,,ENST00000479361,;	T	ENST00000433179	Transcript	synonymous_variant	1620/3340	1620/2373	540/790	A	gcC/gcA		1		-1	PERM1	HGNC	HGNC:28208	protein_coding	YES	CCDS76083.1	ENSP00000414022	Q5SV97		UPI0003E30FA7	NM_001291366.1			1/3		hmmpanther:PTHR21712,hmmpanther:PTHR21712:SF34																	LOW		SNV	5			1										PASS		.	.												T	2	4	57	979410	979410	G	T	1	0	0	0	0	0	0	0	1	11820	987	35	2		2	PERM1	1	979410	Silent	SNP	G	C3N-00560_TP		979410	247977012	1	17940											
MIB2	0	.	GRCh38	chr1	1627701	1627701	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggccaccagggtgctcCtgagtgctgggtgccgggcg	4	6	18	13	3	0	1	0	1	0	0	1	2	1	1	5	4	3	2	5	4	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1897C>T	p.=	p.L633L	ENST00000505820	13/20	227	186	41	180	180	0	strelka-mutect	MIB2,synonymous_variant,p.=,ENST00000520777,NM_001170686.1;MIB2,synonymous_variant,p.=,ENST00000504599,;MIB2,synonymous_variant,p.=,ENST00000505820,NM_080875.2;MIB2,synonymous_variant,p.=,ENST00000355826,NM_001170687.1;MIB2,synonymous_variant,p.=,ENST00000518681,NM_001170688.1;MIB2,synonymous_variant,p.=,ENST00000378708,;MIB2,synonymous_variant,p.=,ENST00000378712,NM_001170689.1;MIB2,synonymous_variant,p.=,ENST00000514234,;MMP23B,upstream_gene_variant,,ENST00000356026,NM_006983.1;MMP23B,upstream_gene_variant,,ENST00000378675,;MIB2,upstream_gene_variant,,ENST00000483015,;MIB2,downstream_gene_variant,,ENST00000510793,;MIB2,downstream_gene_variant,,ENST00000503789,;MMP23B,upstream_gene_variant,,ENST00000472264,;MIB2,downstream_gene_variant,,ENST00000512004,;MIB2,synonymous_variant,p.=,ENST00000487053,;MIB2,3_prime_UTR_variant,,ENST00000489635,;MIB2,3_prime_UTR_variant,,ENST00000506488,;MIB2,non_coding_transcript_exon_variant,,ENST00000479659,;MIB2,non_coding_transcript_exon_variant,,ENST00000511502,;MIB2,non_coding_transcript_exon_variant,,ENST00000507229,;MIB2,non_coding_transcript_exon_variant,,ENST00000473511,;MIB2,non_coding_transcript_exon_variant,,ENST00000464570,;MIB2,non_coding_transcript_exon_variant,,ENST00000505370,;MMP23B,upstream_gene_variant,,ENST00000512731,;MIB2,downstream_gene_variant,,ENST00000502470,;MIB2,downstream_gene_variant,,ENST00000467597,;MIB2,downstream_gene_variant,,ENST00000514363,;MIB2,upstream_gene_variant,,ENST00000511910,;MIB2,downstream_gene_variant,,ENST00000508148,;MIB2,downstream_gene_variant,,ENST00000486072,;MIB2,downstream_gene_variant,,ENST00000508455,;MIB2,upstream_gene_variant,,ENST00000470373,;	T	ENST00000505820	Transcript	synonymous_variant	1914/3305	1897/3213	633/1070	L	Ctg/Ttg		1		1	MIB2	HGNC	HGNC:30577	protein_coding	YES	CCDS41224.2	ENSP00000426103	Q96AX9		UPI0001C0B37A	NM_080875.2			13/20		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24202:SF4,hmmpanther:PTHR24202,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	1627701	1627701	C	T	1	0	0	0	0	0	0	0	1	9524	680	24	3		3	MIB2	1	1627701	Silent	SNP	C	C3N-00560_TP	648291	1627701	247328721	2	17941											
CCDC27	0	.	GRCh38	chr1	3752722	3752722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagccgggacgcccggtgcCcagaatggaaaccgcaccaa	11	2	12	16	4	0	1	0	0	0	1	0	3	0	3	6	3	3	1	6	3	3	0	rs760567788		C3N-00560_TP	C3N-00560_NB	C	C																c.241C>T	p.Pro81Ser	p.P81S	ENST00000294600	1/12	287	186	101	257	257	0	strelka-varscan-mutect	CCDC27,missense_variant,p.Pro81Ser,ENST00000294600,NM_152492.2;CCDC27,missense_variant,p.Pro81Ser,ENST00000462521,;CCDC27,non_coding_transcript_exon_variant,,ENST00000636250,;	T	ENST00000294600	Transcript	missense_variant	325/2176	241/1971	81/656	P/S	Cca/Tca	rs760567788	1		1	CCDC27	HGNC	HGNC:26546	protein_coding	YES	CCDS50.1	ENSP00000294600	Q2M243		UPI000013E186	NM_152492.2	tolerated(0.31)		1/12		hmmpanther:PTHR18853:SF8,hmmpanther:PTHR18853																	MODERATE	1	SNV	1			1										PASS		rs760567788	.												T	3	4	57	3752722	3752722	C	T	1	0	0	0	0	1	0	0	0	2511	623	22	3		3	CCDC27	1	3752722	Missense_Mutation	SNP	C	C3N-00560_TP	2125021	3752722	245203700	3	17942											
LRRC47	0	.	GRCh38	chr1	3796110	3796110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaaggcccggcggctcggCggggcccaggccttggcccg	3	3	19	16	6	0	0	0	0	0	0	1	1	0	1	4	9	0	1	4	9	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.367G>T	p.Ala123Ser	p.A123S	ENST00000378251	1/7	143	113	30	65	65	0	strelka-varscan-mutect	LRRC47,missense_variant,p.Ala123Ser,ENST00000378251,NM_020710.2;	A	ENST00000378251	Transcript	missense_variant	395/4310	367/1752	123/583	A/S	Gcc/Tcc		1		-1	LRRC47	HGNC	HGNC:29207	protein_coding	YES	CCDS51.1	ENSP00000367498	Q8N1G4	A0A024R4G1	UPI000006DEDC	NM_020710.2	tolerated(0.25)		1/7		Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR10947,hmmpanther:PTHR10947:SF3,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	3796110	3796110	C	A	1	0	0	0	0	1	0	0	0	8900	768	27	1		1	LRRC47	1	3796110	Missense_Mutation	SNP	C	C3N-00560_TP	43388	3796110	245160312	4	17943											
NPHP4	0	.	GRCh38	chr1	5879628	5879628	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcacagtcgcctgcagagcCcagcctagagcaccagggtg	10	4	13	14	1	0	2	0	0	0	2	1	2	0	2	4	1	5	3	4	1	1	1	rs774055525		C3N-00560_TP	C3N-00560_NB	C	C																c.2613G>T	p.Trp871Cys	p.W871C	ENST00000622020	20/20	98	41	57	89	89	0	strelka-varscan-mutect	NPHP4,missense_variant,p.Trp871Cys,ENST00000622020,;NPHP4,intron_variant,,ENST00000378156,NM_001291594.1,NM_001291593.1,NM_015102.4;NPHP4,intron_variant,,ENST00000478423,;NPHP4,missense_variant,p.Trp871Cys,ENST00000489180,;NPHP4,intron_variant,,ENST00000378169,;NPHP4,intron_variant,,ENST00000470763,;NPHP4,upstream_gene_variant,,ENST00000506941,;	A	ENST00000622020	Transcript	missense_variant	2881/3004	2613/2736	871/911	W/C	tgG/tgT	rs774055525	1		-1	NPHP4	HGNC	HGNC:19104	protein_coding			ENSP00000481831	O75161		UPI0000074519		tolerated(0.18)		20/20																			MODERATE		SNV	5			1										PASS		rs774055525	.												A	3	1	57	5879628	5879628	C	A	1	0	0	0	0	1	0	0	0	10629	637	22	2		2	NPHP4	1	5879628	Missense_Mutation	SNP	C	C3N-00560_TP	2083518	5879628	243076794	5	17944											
NPPB	0	.	GRCh38	chr1	11858269	11858269	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcttcctcccaaagcaGccagacccttgcaccatctt	9	10	4	18	0	2	1	0	0	2	1	5	1	5	1	6	0	3	2	6	0	1	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.333C>T	p.=	p.G111G	ENST00000376468	2/3	82	45	37	107	107	0	strelka-varscan-mutect	NPPB,synonymous_variant,p.=,ENST00000376468,NM_002521.2;	A	ENST00000376468	Transcript	synonymous_variant	431/694	333/405	111/134	G	ggC/ggT		1		-1	NPPB	HGNC	HGNC:7940	protein_coding	YES	CCDS140.1	ENSP00000365651	P16860		UPI00000350A5	NM_002521.2			2/3		hmmpanther:PTHR14066,Pfam_domain:PF00212,SMART_domains:SM00183,Prints_domain:PR00712																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	11858269	11858269	G	A	1	0	0	0	0	0	0	0	1	10648	958	34	3		3	NPPB	1	11858269	Silent	SNP	G	C3N-00560_TP	5978641	11858269	237098153	6	17945											
TNFRSF8	0	.	GRCh38	chr1	12142409	12142409	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggagctggaggcggacCataccccccactaccccgag	10	3	13	15	2	0	0	0	0	0	0	0	5	0	4	6	5	3	1	6	5	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1666C>A	p.His556Asn	p.H556N	ENST00000263932	15/15	199	189	10	237	237	0	strelka-varscan	TNFRSF8,missense_variant,p.His556Asn,ENST00000263932,NM_001243.4;TNFRSF8,missense_variant,p.His444Asn,ENST00000417814,NM_001281430.2;TNFRSF8,missense_variant,p.His93Asn,ENST00000413146,;TNFRSF8,non_coding_transcript_exon_variant,,ENST00000479933,;TNFRSF8,3_prime_UTR_variant,,ENST00000514649,;	A	ENST00000263932	Transcript	missense_variant	1888/3686	1666/1788	556/595	H/N	Cat/Aat		1		1	TNFRSF8	HGNC	HGNC:11923	protein_coding	YES	CCDS144.1	ENSP00000263932	P28908		UPI0000000971	NM_001243.4	deleterious(0.04)		15/15		Prints_domain:PR01923																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	12142409	12142409	C	A	1	0	0	0	0	1	0	0	0	16773	594	21	2		2	TNFRSF8	1	12142409	Missense_Mutation	SNP	C	C3N-00560_TP	284140	12142409	236814013	7	17946											
VPS13D	0	.	GRCh38	chr1	12261036	12261036	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatgctgcagtatctccAgtcctggtttcctggatggg	5	13	14	9	0	1	0	0	0	1	0	4	2	3	2	3	4	2	4	3	4	1	2	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1301A>T	p.Gln434Leu	p.Q434L	ENST00000620676	12/70	371	204	167	480	480	0	strelka-varscan-mutect	VPS13D,missense_variant,p.Gln434Leu,ENST00000620676,NM_015378.3;VPS13D,missense_variant,p.Gln434Leu,ENST00000613099,NM_018156.3;VPS13D,downstream_gene_variant,,ENST00000489961,;	T	ENST00000620676	Transcript	missense_variant	1431/16320	1301/13167	434/4388	Q/L	cAg/cTg		1		1	VPS13D	HGNC	HGNC:23595	protein_coding	YES	CCDS30588.1	ENSP00000478104	Q5THJ4		UPI0000451CA9	NM_015378.3	deleterious(0.03)		12/70		hmmpanther:PTHR16166:SF104,hmmpanther:PTHR16166																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	12261036	12261036	A	T	1	0	0	0	0	1	0	0	0	17739	188	7	4		4	VPS13D	1	12261036	Missense_Mutation	SNP	A	C3N-00560_TP	118627	12261036	236695386	8	17947											
UBXN10	0	.	GRCh38	chr1	20191183	20191183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgttagatcaccaacaGgccaaaggtttgtacgccat	11	11	9	10	1	1	1	1	0	0	1	1	1	1	1	3	2	3	4	3	2	4	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.622G>T	p.Gly208Cys	p.G208C	ENST00000375099	2/2	256	150	106	356	356	0	strelka-varscan-mutect	UBXN10,missense_variant,p.Gly208Cys,ENST00000375099,NM_152376.4;UBXN10-AS1,upstream_gene_variant,,ENST00000442226,;	T	ENST00000375099	Transcript	missense_variant	706/5571	622/843	208/280	G/C	Ggc/Tgc		1		1	UBXN10	HGNC	HGNC:26354	protein_coding	YES	CCDS205.1	ENSP00000364240	Q96LJ8		UPI000000DBEB	NM_152376.4	deleterious(0)		2/2		PROSITE_profiles:PS50033,hmmpanther:PTHR23322:SF28,hmmpanther:PTHR23322,Pfam_domain:PF00789,Gene3D:3.10.20.90,SMART_domains:SM00166,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	20191183	20191183	G	T	1	0	0	0	0	1	0	0	0	17436	1000	35	2		2	UBXN10	1	20191183	Missense_Mutation	SNP	G	C3N-00560_TP	7930147	20191183	228765239	9	17948											
HSPG2	0	.	GRCh38	chr1	21828849	21828849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctcgcccacacagcCgcggaagtgagcgctcatgt	8	8	10	15	4	2	1	1	1	1	0	3	2	2	2	3	1	3	1	3	1	2	1	rs557821484		C3N-00560_TP	C3N-00560_NB	C	C																c.12223G>T	p.Gly4075Cys	p.G4075C	ENST00000374695	88/97	261	146	115	313	312	1	strelka-varscan-mutect	HSPG2,missense_variant,p.Gly4075Cys,ENST00000374695,NM_005529.6,NM_001291860.1;LDLRAD2,downstream_gene_variant,,ENST00000344642,NM_001013693.2;LDLRAD2,downstream_gene_variant,,ENST00000543870,;HSPG2,downstream_gene_variant,,ENST00000635682,;HSPG2,non_coding_transcript_exon_variant,,ENST00000486901,;HSPG2,downstream_gene_variant,,ENST00000471322,;HSPG2,upstream_gene_variant,,ENST00000481644,;	A	ENST00000374695	Transcript	missense_variant	12303/14327	12223/13176	4075/4391	G/C	Ggc/Tgc	rs557821484	1		-1	HSPG2	HGNC	HGNC:5273	protein_coding	YES	CCDS30625.1	ENSP00000363827	P98160		UPI0000212778	NM_005529.6,NM_001291860.1	deleterious(0)		88/97		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF273,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs557821484	.												A	3	1	57	21828849	21828849	C	A	1	0	0	0	0	1	0	0	0	7326	652	23	1		1	HSPG2	1	21828849	Missense_Mutation	SNP	C	C3N-00560_TP	1637666	21828849	227127573	10	17949											
ARID1A	0	.	GRCh38	chr1	26771246	26771246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaatgcaagattgaacGgggagaagaccctcccccag	12	7	11	11	1	0	5	0	2	0	3	1	6	1	5	3	2	2	1	3	2	4	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3326G>T	p.Arg1109Leu	p.R1109L	ENST00000324856	12/20	371	298	73	337	337	0	strelka-varscan-mutect	ARID1A,missense_variant,p.Arg1109Leu,ENST00000324856,NM_006015.4;ARID1A,missense_variant,p.Arg728Leu,ENST00000636219,;ARID1A,missense_variant,p.Arg726Leu,ENST00000430799,;ARID1A,missense_variant,p.Arg726Leu,ENST00000374152,;ARID1A,missense_variant,p.Arg1109Leu,ENST00000457599,NM_139135.2;ARID1A,missense_variant,p.Arg725Leu,ENST00000615191,;ARID1A,upstream_gene_variant,,ENST00000636794,;ARID1A,non_coding_transcript_exon_variant,,ENST00000636110,;ARID1A,upstream_gene_variant,,ENST00000466382,;ARID1A,upstream_gene_variant,,ENST00000532781,;ARID1A,upstream_gene_variant,,ENST00000636072,;ARID1A,downstream_gene_variant,,ENST00000430291,;	T	ENST00000324856	Transcript	missense_variant	3697/8577	3326/6858	1109/2285	R/L	cGg/cTg		1		1	ARID1A	HGNC	HGNC:11110	protein_coding	YES	CCDS285.1	ENSP00000320485	O14497		UPI0000167B91	NM_006015.4	deleterious(0.01)		12/20		hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Gene3D:1.10.150.60,SMART_domains:SM00501,Superfamily_domains:SSF46774																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	26771246	26771246	G	T	1	0	0	0	0	1	0	0	0	1049	1116	39	1		1	ARID1A	1	26771246	Missense_Mutation	SNP	G	C3N-00560_TP	4942397	26771246	222185176	11	17950											
PUM1	0	.	GRCh38	chr1	30945399	30945399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactggggctgtacacattCaatgcatttctgaaccacgt	11	11	9	10	1	2	2	1	1	1	1	2	2	2	2	1	2	3	3	1	2	3	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2941G>A	p.Glu981Lys	p.E981K	ENST00000426105	18/22	262	175	87	252	252	0	strelka-varscan-mutect	PUM1,missense_variant,p.Glu982Lys,ENST00000373747,;PUM1,missense_variant,p.Glu979Lys,ENST00000257075,NM_014676.2;PUM1,missense_variant,p.Glu737Lys,ENST00000424085,;PUM1,missense_variant,p.Glu918Lys,ENST00000525843,;PUM1,missense_variant,p.Glu1017Lys,ENST00000373741,;PUM1,missense_variant,p.Glu981Lys,ENST00000426105,NM_001020658.1;PUM1,missense_variant,p.Glu955Lys,ENST00000440538,;PUM1,missense_variant,p.Glu920Lys,ENST00000373742,;PUM1,missense_variant,p.Glu693Lys,ENST00000498419,;PUM1,missense_variant,p.Glu132Lys,ENST00000529846,;PUM1,intron_variant,,ENST00000525997,;PUM1,downstream_gene_variant,,ENST00000527498,;PUM1,upstream_gene_variant,,ENST00000530669,;	T	ENST00000426105	Transcript	missense_variant	3032/4043	2941/3567	981/1188	E/K	Gaa/Aaa		1		-1	PUM1	HGNC	HGNC:14957	protein_coding	YES	CCDS44099.1	ENSP00000391723	Q14671		UPI0000203D8E	NM_001020658.1	deleterious(0)		18/22		Gene3D:1.25.10.10,Pfam_domain:PF00806,PROSITE_profiles:PS50302,PROSITE_profiles:PS50303,hmmpanther:PTHR12537,hmmpanther:PTHR12537:SF1,SMART_domains:SM00025,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	30945399	30945399	C	T	1	0	0	0	0	1	0	0	0	12982	835	29	3		3	PUM1	1	30945399	Missense_Mutation	SNP	C	C3N-00560_TP	4174153	30945399	218011023	12	17951											
TXLNA	0	.	GRCh38	chr1	32181487	32181487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaggaaccctccaaggggGatccaaacacagaagagatc	17	3	11	10	0	0	3	0	0	0	3	3	6	2	5	3	3	2	0	3	3	5	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.415G>T	p.Asp139Tyr	p.D139Y	ENST00000373609	2/10	179	147	32	180	179	1	strelka-varscan-mutect	TXLNA,missense_variant,p.Asp139Tyr,ENST00000373609,;TXLNA,missense_variant,p.Asp139Tyr,ENST00000373610,NM_175852.3;KPNA6,downstream_gene_variant,,ENST00000373625,NM_012316.4;RP4-622L5.2,downstream_gene_variant,,ENST00000515055,;	T	ENST00000373609	Transcript	missense_variant	696/5012	415/1641	139/546	D/Y	Gat/Tat		1		1	TXLNA	HGNC	HGNC:30685	protein_coding	YES	CCDS353.1	ENSP00000362711	P40222		UPI000000D7D9		deleterious(0.01)		2/10		hmmpanther:PTHR16127,hmmpanther:PTHR16127:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	32181487	32181487	G	T	1	0	0	0	0	1	0	0	0	17303	1174	41	2		2	TXLNA	1	32181487	Missense_Mutation	SNP	G	C3N-00560_TP	1236088	32181487	216774935	13	17952											
ZSCAN20	0	.	GRCh38	chr1	33493287	33493287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcaccagaacagccaGgtgtaccgggccattgcaga	11	6	11	13	1	1	2	1	0	0	2	1	2	1	2	5	2	4	2	5	2	2	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1545G>T	p.Gln515His	p.Q515H	ENST00000361328	7/8	368	232	136	342	342	0	strelka-varscan-mutect	ZSCAN20,missense_variant,p.Gln515His,ENST00000361328,NM_145238.3;ZSCAN20,downstream_gene_variant,,ENST00000373413,;ZSCAN20,downstream_gene_variant,,ENST00000480917,;	T	ENST00000361328	Transcript	missense_variant	1698/4316	1545/3132	515/1043	Q/H	caG/caT		1		1	ZSCAN20	HGNC	HGNC:13093	protein_coding	YES	CCDS41300.1	ENSP00000355053	P17040		UPI0000D61EC5	NM_145238.3	deleterious(0.02)		7/8		Pfam_domain:PF13837,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF198,SMART_domains:SM00717																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	33493287	33493287	G	T	1	0	0	0	0	1	0	0	0	18826	991	35	2		2	ZSCAN20	1	33493287	Missense_Mutation	SNP	G	C3N-00560_TP	1311800	33493287	215463135	14	17953											
CSMD2	0	.	GRCh38	chr1	33533795	33533795	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgaagtctgcactcaCggacacagtcaggtggggtt	8	9	16	8	1	3	1	2	1	1	0	3	2	3	2	0	5	1	2	0	5	1	1			C3N-00560_TP	C3N-00560_NB	C	C																c.9991+1G>T		p.X3331_splice	ENST00000373381		139	94	45	126	126	0	strelka-varscan-mutect	CSMD2,splice_donor_variant,,ENST00000373381,NM_001281956.1;CSMD2,splice_donor_variant,,ENST00000619121,;CSMD2,splice_donor_variant,,ENST00000373388,NM_052896.4;CSMD2,splice_donor_variant,,ENST00000241312,;	A	ENST00000373381	Transcript	splice_donor_variant	-/13698	9991/10896	3331/3631			COSM1732300,COSM1732301	1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1				63/70												1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												A	5	1	57	33533795	33533795	C	A	1	0	0	0	0	0	0	1	0	3746	550	19	1		1	CSMD2	1	33533795	Splice_Site	SNP	C	C3N-00560_TP	40508	33533795	215422627	15	17954											
CSMD2	0	.	GRCh38	chr1	33658103	33658103	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccgactcccattctgcggGatcccagggtcattgcagga	7	9	11	14	2	2	0	1	0	1	0	5	3	5	2	3	3	2	1	3	3	0	2			C3N-00560_TP	C3N-00560_NB	G	G																c.4290C>A	p.=	p.I1430I	ENST00000373381	27/71	90	71	19	74	74	0	strelka-varscan-mutect	CSMD2,synonymous_variant,p.=,ENST00000373381,NM_001281956.1;CSMD2,synonymous_variant,p.=,ENST00000619121,;CSMD2,synonymous_variant,p.=,ENST00000373388,NM_052896.4;CSMD2,synonymous_variant,p.=,ENST00000373380,;CSMD2,synonymous_variant,p.=,ENST00000241312,;	T	ENST00000373381	Transcript	synonymous_variant	4467/13698	4290/10896	1430/3631	I	atC/atA	COSM4994032,COSM4994033	1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1			27/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	57	33658103	33658103	G	T	1	0	0	0	0	0	0	0	1	3746	1164	41	2		2	CSMD2	1	33658103	Silent	SNP	G	C3N-00560_TP	124308	33658103	215298319	16	17955											
HIVEP3	0	.	GRCh38	chr1	41512902	41512902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaacccgtgggtccagccCcaagcctgggccatgctccc	7	5	12	17	1	0	1	0	0	0	1	2	2	2	1	7	2	4	1	7	2	2	0	rs141540001		C3N-00560_TP	C3N-00560_NB	C	C																c.6319G>T	p.Gly2107Trp	p.G2107W	ENST00000372583	8/9	114	92	22	114	114	0	strelka-varscan-mutect	HIVEP3,missense_variant,p.Gly2107Trp,ENST00000372584,NM_001127714.2;HIVEP3,missense_variant,p.Gly2107Trp,ENST00000372583,NM_024503.4;HIVEP3,non_coding_transcript_exon_variant,,ENST00000460604,;	A	ENST00000372583	Transcript	missense_variant	7205/12193	6319/7221	2107/2406	G/W	Ggg/Tgg	rs141540001	1		-1	HIVEP3	HGNC	HGNC:13561	protein_coding	YES	CCDS463.1	ENSP00000361664	Q5T1R4		UPI000013CC24	NM_024503.4	deleterious(0.04)		8/9		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50																	MODERATE	1	SNV	1			1										PASS		rs141540001	.												A	3	1	57	41512902	41512902	C	A	1	0	0	0	0	1	0	0	0	7077	623	22	2		2	HIVEP3	1	41512902	Missense_Mutation	SNP	C	C3N-00560_TP	7854799	41512902	207443520	17	17956											
HIVEP3	0	.	GRCh38	chr1	41583590	41583590	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtttggggggctgaccTgctgctctgcactctcggag	3	12	16	10	1	2	1	0	1	2	0	3	2	2	2	1	5	3	5	1	5	0	1	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1208A>T	p.Gln403Leu	p.Q403L	ENST00000372583	4/9	247	213	34	257	257	0	strelka-varscan-mutect	HIVEP3,missense_variant,p.Gln403Leu,ENST00000372584,NM_001127714.2;HIVEP3,missense_variant,p.Gln403Leu,ENST00000372583,NM_024503.4;HIVEP3,upstream_gene_variant,,ENST00000460604,;	A	ENST00000372583	Transcript	missense_variant	2094/12193	1208/7221	403/2406	Q/L	cAg/cTg		1		-1	HIVEP3	HGNC	HGNC:13561	protein_coding	YES	CCDS463.1	ENSP00000361664	Q5T1R4		UPI000013CC24	NM_024503.4	deleterious(0)		4/9		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	41583590	41583590	T	A	1	0	0	0	0	1	0	0	0	7077	1580	55	4		4	HIVEP3	1	41583590	Missense_Mutation	SNP	T	C3N-00560_TP	70688	41583590	207372832	18	17957											
MAST2	0	.	GRCh38	chr1	46025675	46025675	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagcctgggcttgttgcAgggggagactgtgccactct	5	11	16	9	0	1	1	0	0	1	1	1	2	1	1	2	4	3	4	2	4	1	3	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1781-2A>T		p.X594_splice	ENST00000361297		134	87	47	137	136	1	strelka-varscan-mutect	MAST2,splice_acceptor_variant,,ENST00000361297,NM_001324320.1,NM_001319245.1,NM_015112.2;MAST2,splice_acceptor_variant,,ENST00000372009,;MAST2,splice_acceptor_variant,,ENST00000372008,;MAST2,upstream_gene_variant,,ENST00000477968,;MAST2,downstream_gene_variant,,ENST00000467367,;MAST2,downstream_gene_variant,,ENST00000498668,;	T	ENST00000361297	Transcript	splice_acceptor_variant	-/5738	1781/5397	594/1798				1		1	MAST2	HGNC	HGNC:19035	protein_coding	YES	CCDS41326.1	ENSP00000354671	Q6P0Q8		UPI0000458AEB	NM_001324320.1,NM_001319245.1,NM_015112.2				15/28																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	57	46025675	46025675	A	T	1	0	0	0	0	0	0	1	0	9251	202	7	4		4	MAST2	1	46025675	Splice_Site	SNP	A	C3N-00560_TP	4442085	46025675	202930747	19	17958											
AGBL4	0	.	GRCh38	chr1	49697437	49697437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtccacccggcccaggttaCctggtaataaaaattaagag	13	8	10	10	1	0	1	0	0	0	1	1	1	1	1	4	4	1	2	4	4	6	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.158G>T	p.Gly53Val	p.G53V	ENST00000371839	3/14	80	65	15	90	90	0	strelka-varscan-mutect	AGBL4,missense_variant,p.Gly53Val,ENST00000371839,NM_032785.3;AGBL4,missense_variant,p.Gly53Val,ENST00000371836,;AGBL4,missense_variant,p.Gly53Val,ENST00000371838,;AGBL4,splice_region_variant,,ENST00000497451,;	A	ENST00000371839	Transcript	missense_variant,splice_region_variant	275/2947	158/1512	53/503	G/V	gGt/gTt		1		-1	AGBL4	HGNC	HGNC:25892	protein_coding	YES	CCDS44137.1	ENSP00000360905	Q5VU57		UPI00002042F9	NM_032785.3	deleterious(0)		3/14		hmmpanther:PTHR12756																	MODERATE	1	SNV	2			1										PASS		rs965723811	.												A	3	1	57	49697437	49697437	C	A	1	0	0	0	0	1	0	0	0	454	521	18	2		2	AGBL4	1	49697437	Missense_Mutation	SNP	C	C3N-00560_TP	3671762	49697437	199258985	20	17959											
GLIS1	0	.	GRCh38	chr1	53594827	53594827	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaggcttcggcccgggaGgtccaggtctgggtgcaggc	4	6	20	11	3	1	0	0	0	1	0	3	2	2	1	2	8	1	2	2	8	0	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.76C>G	p.Leu26Val	p.L26V	ENST00000312233	3/10	83	68	15	96	96	0	strelka-varscan-mutect	GLIS1,missense_variant,p.Leu26Val,ENST00000312233,NM_147193.2;GLIS1,missense_variant,p.Leu201Val,ENST00000628545,;	C	ENST00000312233	Transcript	missense_variant	643/2812	76/1863	26/620	L/V	Ctc/Gtc		1		-1	GLIS1	HGNC	HGNC:29525	protein_coding	YES	CCDS582.1	ENSP00000309653	Q8NBF1		UPI000013F293	NM_147193.2	deleterious_low_confidence(0.02)		3/10		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF93																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	57	53594827	53594827	G	C	1	0	0	0	0	1	0	0	0	6323	1000	35	4		4	GLIS1	1	53594827	Missense_Mutation	SNP	G	C3N-00560_TP	3897390	53594827	195361595	21	17960											
PCSK9	0	.	GRCh38	chr1	55061464	55061464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccaaccagtgcgtgggcCacagggaggccagcatccac	10	3	13	15	1	0	0	0	0	0	0	1	1	1	1	5	3	4	1	5	3	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1771C>A	p.His591Asn	p.H591N	ENST00000302118	11/12	288	176	112	277	277	0	strelka-varscan-mutect	PCSK9,missense_variant,p.His591Asn,ENST00000302118,NM_174936.3;USP24,downstream_gene_variant,,ENST00000294383,NM_015306.2;PCSK9,non_coding_transcript_exon_variant,,ENST00000490692,;	A	ENST00000302118	Transcript	missense_variant	2061/3637	1771/2079	591/692	H/N	Cac/Aac		1		1	PCSK9	HGNC	HGNC:20001	protein_coding	YES	CCDS603.1	ENSP00000303208	Q8NBP7		UPI00001615E1	NM_174936.3	tolerated(0.08)		11/12																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	55061464	55061464	C	A	1	0	0	0	0	1	0	0	0	11694	594	21	2		2	PCSK9	1	55061464	Missense_Mutation	SNP	C	C3N-00560_TP	1466637	55061464	193894958	22	17961											
KANK4	0	.	GRCh38	chr1	62273269	62273269	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgggccgagtaggccGacagcagcaggttgagggag	9	4	19	9	2	0	1	0	1	0	0	0	5	0	2	3	4	3	4	3	4	1	2	rs200228736		C3N-00560_TP	C3N-00560_NB	G	G																c.1835C>A	p.Ser612Ter	p.S612*	ENST00000371153	3/10	30	13	17	12	12	0	strelka-varscan-mutect	KANK4,stop_gained,p.Ser612Ter,ENST00000371153,NM_181712.4;KANK4,intron_variant,,ENST00000354381,;KANK4,upstream_gene_variant,,ENST00000371150,;	T	ENST00000371153	Transcript	stop_gained	2214/4665	1835/2988	612/995	S/*	tCg/tAg	rs200228736	1		-1	KANK4	HGNC	HGNC:27263	protein_coding	YES	CCDS620.1	ENSP00000360195	Q5T7N3		UPI000022AE73	NM_181712.4			3/10		hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF24,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		rs200228736	.												T	4	4	57	62273269	62273269	G	T	1	0	0	0	0	0	1	0	0	7888	1059	37	1		1	KANK4	1	62273269	Nonsense_Mutation	SNP	G	C3N-00560_TP	7211805	62273269	186683153	23	17962											
DOCK7	0	.	GRCh38	chr1	62504698	62504698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgtgaccgtattgtacCgatgctactgctacagtgtc	7	12	12	10	3	0	1	0	1	0	0	1	2	0	1	2	1	5	4	2	1	4	5	rs147103646		C3N-00560_TP	C3N-00560_NB	C	C																c.4669G>T	p.Gly1557Cys	p.G1557C	ENST00000454575	37/49	318	285	33	241	241	0	strelka-varscan-mutect	DOCK7,missense_variant,p.Gly1557Cys,ENST00000251157,;DOCK7,missense_variant,p.Gly1557Cys,ENST00000454575,NM_001271999.1;DOCK7,missense_variant,p.Gly1535Cys,ENST00000340370,NM_033407.3;DOCK7,missense_variant,p.Gly1566Cys,ENST00000635253,;DOCK7,missense_variant,p.Gly1526Cys,ENST00000634264,NM_001272000.1;DOCK7,missense_variant,p.Gly1526Cys,ENST00000635123,NM_001272001.1;DOCK7,missense_variant,p.Gly657Cys,ENST00000637255,;DOCK7,downstream_gene_variant,,ENST00000635286,;DOCK7,3_prime_UTR_variant,,ENST00000637208,;DOCK7,non_coding_transcript_exon_variant,,ENST00000635983,;	A	ENST00000454575	Transcript	missense_variant	4680/6985	4669/6390	1557/2129	G/C	Ggt/Tgt	rs147103646	1		-1	DOCK7	HGNC	HGNC:19190	protein_coding	YES	CCDS60156.1	ENSP00000413583	Q96N67	H0Y7L2	UPI0000E45660	NM_001271999.1	deleterious(0.01)		37/49		hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317																	MODERATE	1	SNV	1			1										PASS		rs147103646	.												A	3	1	57	62504698	62504698	C	A	1	0	0	0	0	1	0	0	0	4507	652	23	1		1	DOCK7	1	62504698	Missense_Mutation	SNP	C	C3N-00560_TP	231429	62504698	186451724	24	17963											
MIER1	0	.	GRCh38	chr1	66958098	66958098	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaacttctcagcctttatGgttatggtagtactgttcga	9	16	9	7	1	1	1	1	1	1	0	3	2	1	1	1	2	3	4	1	2	5	7	rs866229137		C3N-00560_TP	C3N-00560_NB	G	G																c.379G>T	p.Gly127Cys	p.G127C	ENST00000401041	5/14	186	161	25	134	134	0	strelka-mutect	MIER1,missense_variant,p.Gly91Cys,ENST00000357692,NM_001146112.1,NM_020948.3,NM_001146110.1;MIER1,missense_variant,p.Gly74Cys,ENST00000355356,NM_001077701.2;MIER1,missense_variant,p.Gly91Cys,ENST00000371018,NM_001146111.1;MIER1,missense_variant,p.Gly11Cys,ENST00000355977,NM_001146113.1;MIER1,missense_variant,p.Gly127Cys,ENST00000401041,NM_001077700.2;MIER1,missense_variant,p.Gly91Cys,ENST00000371016,NM_001077702.2;MIER1,missense_variant,p.Gly127Cys,ENST00000371014,NM_001077703.2;MIER1,missense_variant,p.Gly74Cys,ENST00000401042,NM_001077704.2;MIER1,non_coding_transcript_exon_variant,,ENST00000479067,;MIER1,upstream_gene_variant,,ENST00000493357,;	T	ENST00000401041	Transcript	missense_variant	449/2552	379/1698	127/565	G/C	Ggt/Tgt	rs866229137	1		1	MIER1	HGNC	HGNC:29657	protein_coding	YES	CCDS53326.1	ENSP00000383820	Q8N108		UPI0000204526	NM_001077700.2	deleterious(0.02)		5/14		hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF24																	MODERATE	1	SNV	2			1										PASS		rs866229137	.												T	3	4	57	66958098	66958098	G	T	1	0	0	0	0	1	0	0	0	9543	1348	47	2		2	MIER1	1	66958098	Missense_Mutation	SNP	G	C3N-00560_TP	4453400	66958098	181998324	25	17964											
RPE65	0	.	GRCh38	chr1	68440953	68440953	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttccatcattttcaatgtgGgggtgagcagtggccccatt	7	13	12	9	0	2	1	2	1	0	0	3	1	3	1	3	3	1	2	3	3	1	4	rs746156974		C3N-00560_TP	C3N-00560_NB	G	G																c.543C>A	p.=	p.P181P	ENST00000262340	6/14	372	311	61	261	261	0	strelka-varscan-mutect	RPE65,synonymous_variant,p.=,ENST00000262340,NM_000329.2;	T	ENST00000262340	Transcript	synonymous_variant	597/2610	543/1602	181/533	P	ccC/ccA	rs746156974	1		-1	RPE65	HGNC	HGNC:10294	protein_coding	YES	CCDS643.1	ENSP00000262340	Q16518		UPI000004346C	NM_000329.2			6/14		Pfam_domain:PF03055,hmmpanther:PTHR10543,hmmpanther:PTHR10543:SF43																	LOW	1	SNV	1			1										PASS		rs746156974	.												T	2	4	57	68440953	68440953	G	T	1	0	0	0	0	0	0	0	1	13796	1219	43	2		2	RPE65	1	68440953	Silent	SNP	G	C3N-00560_TP	1482855	68440953	180515469	26	17965											
CTH	0	.	GRCh38	chr1	70435178	70435178	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagccttgctgagcttccGtaagtatagttctgtttttc	8	16	9	8	1	1	1	0	1	1	0	3	2	2	1	2	0	3	6	2	0	4	8	rs570239863		C3N-00560_TP	C3N-00560_NB	G	G																c.1052+1G>T		p.X351_splice	ENST00000370938		422	377	45	365	365	0	strelka-varscan-mutect	CTH,splice_donor_variant,,ENST00000411986,NM_001190463.1;CTH,splice_donor_variant,,ENST00000370938,NM_001902.5;CTH,splice_donor_variant,,ENST00000346806,NM_153742.4;Metazoa_SRP,downstream_gene_variant,,ENST00000612213,;CTH,splice_donor_variant,,ENST00000482383,;CTH,downstream_gene_variant,,ENST00000464926,;	T	ENST00000370938	Transcript	splice_donor_variant	-/1805	1052/1218	351/405			rs570239863	1		1	CTH	HGNC	HGNC:2501	protein_coding	YES	CCDS650.1	ENSP00000359976	P32929		UPI00001275DE	NM_001902.5				10/11																		HIGH	1	SNV	1			1										PASS		rs763437497	.												T	5	4	57	70435178	70435178	G	T	1	0	0	0	0	0	0	1	0	3817	1159	40	1		1	CTH	1	70435178	Splice_Site	SNP	G	C3N-00560_TP	1994225	70435178	178521244	27	17966											
NEGR1	0	.	GRCh38	chr1	71592965	71592965	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attccttgttggccattgaaGagcctagaagacaaaataag	15	10	9	7	0	0	4	0	1	0	3	1	4	1	4	3	1	1	1	3	1	6	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.792C>T	p.=	p.L264L	ENST00000357731	6/7	78	61	17	84	84	0	strelka-varscan-mutect	NEGR1,synonymous_variant,p.=,ENST00000357731,NM_173808.2;NEGR1,synonymous_variant,p.=,ENST00000306821,;	A	ENST00000357731	Transcript	synonymous_variant	1032/12811	792/1065	264/354	L	ctC/ctT		1		-1	NEGR1	HGNC	HGNC:17302	protein_coding	YES	CCDS661.1	ENSP00000350364	Q7Z3B1		UPI00000477EE	NM_173808.2			6/7		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF132,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs1290717485	.												A	2	1	57	71592965	71592965	G	A	1	0	0	0	0	0	0	0	1	10345	956	33	3		3	NEGR1	1	71592965	Silent	SNP	G	C3N-00560_TP	1157787	71592965	177363457	28	17967											
ERICH3	0	.	GRCh38	chr1	74620885	74620885	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaatagctgcattactatgTaaggatgttttatgaatcct	12	16	8	5	0	0	1	0	1	0	0	1	2	1	2	1	1	3	5	1	1	7	7	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.849A>G	p.=	p.L283L	ENST00000326665	8/15	78	56	22	98	98	0	strelka-varscan-mutect	ERICH3,synonymous_variant,p.=,ENST00000326665,NM_001002912.4;ERICH3,synonymous_variant,p.=,ENST00000420661,;ERICH3-AS1,intron_variant,,ENST00000612390,;ERICH3-AS1,intron_variant,,ENST00000416017,;ERICH3,3_prime_UTR_variant,,ENST00000479666,;	C	ENST00000326665	Transcript	synonymous_variant	1068/7159	849/4593	283/1530	L	ttA/ttG		1		-1	ERICH3	HGNC	HGNC:25346	protein_coding	YES	CCDS30755.1	ENSP00000322609	Q5RHP9		UPI0000237200	NM_001002912.4			8/15		hmmpanther:PTHR23034																	LOW		SNV	5			1										PASS		.	.												C	2	2	57	74620885	74620885	T	C	1	0	0	0	0	0	0	0	1	5083	1635	57	5		5	ERICH3	1	74620885	Silent	SNP	T	C3N-00560_TP	3027920	74620885	174335537	29	17968											
PIGK	0	.	GRCh38	chr1	77219325	77219325	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacctcgatatgactagcGgccacgctgccgaaggacaa	11	6	10	14	4	0	1	0	1	0	0	1	4	0	2	4	2	3	1	4	2	5	3	rs536087505		C3N-00560_TP	C3N-00560_NB	G	G																c.78C>T	p.=	p.A26A	ENST00000370812	1/11	224	189	35	262	260	2	strelka-varscan-mutect	PIGK,synonymous_variant,p.=,ENST00000370812,NM_005482.2;PIGK,synonymous_variant,p.=,ENST00000445065,;PIGK,synonymous_variant,p.=,ENST00000359130,;PIGK,non_coding_transcript_exon_variant,,ENST00000478391,;	A	ENST00000370812	Transcript	synonymous_variant	102/4596	78/1188	26/395	A	gcC/gcT	rs536087505,COSM5137466	1		-1	PIGK	HGNC	HGNC:8965	protein_coding	YES	CCDS674.1	ENSP00000359848	Q92643		UPI000012B9D1	NM_005482.2			1/11		PIRSF_domain:PIRSF019663,PIRSF_domain:PIRSF500138,hmmpanther:PTHR12000,hmmpanther:PTHR12000:SF1,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix											0,1						LOW	1	SNV	1		0,1	1										PASS		rs536087505	.												A	2	1	57	77219325	77219325	G	A	1	0	0	0	0	0	0	0	1	11984	1103	39	1		1	PIGK	1	77219325	Silent	SNP	G	C3N-00560_TP	2598440	77219325	171737097	30	17969											
AK5	0	.	GRCh38	chr1	77297914	77297914	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttattgatggatttccaagAgatgttgcccaggctctatc	9	14	10	8	0	1	2	0	1	1	1	3	4	2	3	2	2	1	3	2	2	3	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.666A>T	p.Arg222Ser	p.R222S	ENST00000354567	5/14	91	76	15	122	122	0	strelka-varscan-mutect	AK5,missense_variant,p.Arg196Ser,ENST00000344720,NM_012093.3;AK5,missense_variant,p.Arg222Ser,ENST00000354567,NM_174858.2;AK5,downstream_gene_variant,,ENST00000478407,;AK5,non_coding_transcript_exon_variant,,ENST00000317704,;AK5,non_coding_transcript_exon_variant,,ENST00000524494,;AK5,non_coding_transcript_exon_variant,,ENST00000466114,;AK5,downstream_gene_variant,,ENST00000469394,;	T	ENST00000354567	Transcript	missense_variant	929/3251	666/1689	222/562	R/S	agA/agT		1		1	AK5	HGNC	HGNC:365	protein_coding	YES	CCDS675.1	ENSP00000346577	Q9Y6K8		UPI0000167E20	NM_174858.2	deleterious(0)		5/14		HAMAP:MF_00235,hmmpanther:PTHR23359:SF79,hmmpanther:PTHR23359,PROSITE_patterns:PS00113,Pfam_domain:PF00406,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1383094445	.												T	3	4	57	77297914	77297914	A	T	1	0	0	0	0	1	0	0	0	522	301	11	4		4	AK5	1	77297914	Missense_Mutation	SNP	A	C3N-00560_TP	78589	77297914	171658508	31	17970											
ADGRL4	0	.	GRCh38	chr1	78946294	78946294	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatacagacggttccatcaTtagtgataaacctgtcttgg	11	13	8	9	1	2	2	1	1	1	1	3	2	3	2	2	2	2	1	2	2	5	6	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.305A>T	p.Asn102Ile	p.N102I	ENST00000370742	3/15	105	87	18	115	115	0	strelka-varscan-mutect	ADGRL4,missense_variant,p.Asn102Ile,ENST00000370742,NM_022159.3;	A	ENST00000370742	Transcript	missense_variant	369/3527	305/2073	102/690	N/I	aAt/aTt		1		-1	ADGRL4	HGNC	HGNC:20822	protein_coding	YES	CCDS41352.1	ENSP00000359778	Q9HBW9		UPI00004561FF	NM_022159.3	deleterious_low_confidence(0)		3/15		hmmpanther:PTHR12011:SF59,hmmpanther:PTHR12011,Gene3D:2.40.155.10,SMART_domains:SM00181,SMART_domains:SM00179																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	78946294	78946294	T	A	1	0	0	0	0	1	0	0	0	378	1493	52	4		4	ADGRL4	1	78946294	Missense_Mutation	SNP	T	C3N-00560_TP	1648380	78946294	170010128	32	17971											
WDR63	0	.	GRCh38	chr1	85084594	85084594	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatataaagaacatattcctGaagatgtgtatatttataaa	19	14	5	3	0	0	3	0	1	0	2	1	3	1	3	1	0	1	1	1	0	12	9	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.439G>T	p.Glu147Ter	p.E147*	ENST00000294664	6/23	83	50	33	92	92	0	strelka-varscan-mutect	WDR63,stop_gained,p.Glu147Ter,ENST00000294664,NM_145172.4;WDR63,stop_gained,p.Glu147Ter,ENST00000370596,;WDR63,stop_gained,p.Glu147Ter,ENST00000326813,NM_001288563.1;WDR63,downstream_gene_variant,,ENST00000528899,;WDR63,stop_gained,p.Glu147Ter,ENST00000464801,;	T	ENST00000294664	Transcript	stop_gained	619/2995	439/2676	147/891	E/*	Gaa/Taa		1		1	WDR63	HGNC	HGNC:30711	protein_coding	YES	CCDS702.1	ENSP00000294664	Q8IWG1	A0A140VJZ8	UPI00000744F1	NM_145172.4			6/23		hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF5																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	85084594	85084594	G	T	1	0	0	0	0	0	1	0	0	17873	1291	45	2		2	WDR63	1	85084594	Nonsense_Mutation	SNP	G	C3N-00560_TP	6138300	85084594	163871828	33	17972											
CLCA2	0	.	GRCh38	chr1	86432457	86432457	+	Nonsense_Mutation	SNP	G	G	T																															ttagtaagctttttaaagaaGgatgcacctttatctacaat																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.673G>T	p.Gly225Ter	p.G225*	ENST00000370565	5/14	184	173	11	204	204	0	strelka-varscan-mutect	CLCA2,stop_gained,p.Gly225Ter,ENST00000370565,NM_006536.5;	T	ENST00000370565	Transcript	stop_gained	835/4025	673/2832	225/943	G/*	Gga/Tga		1		1	CLCA2	HGNC	HGNC:2016	protein_coding	YES	CCDS708.1	ENSP00000359596	Q9UQC9		UPI0000035838	NM_006536.5			5/14		Pfam_domain:PF08434,hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF66,TIGRFAM_domain:TIGR00868																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	86432457	86432457	G	T	1	0	0	0	0	0	1	0	0	3222	1001	35	2		2	CLCA2	1	86432457	Nonsense_Mutation	SNP	G	C3N-00560_TP	1347863	86432457	162523965	34	17973	382	2									
CLCA2	0	.	GRCh38	chr1	86432458	86432458	+	Missense_Mutation	SNP	G	G	T																															tagtaagctttttaaagaagGatgcacctttatctacaata																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.674G>T	p.Gly225Val	p.G225V	ENST00000370565	5/14	184	173	11	204	203	1	strelka-varscan-mutect	CLCA2,missense_variant,p.Gly225Val,ENST00000370565,NM_006536.5;	T	ENST00000370565	Transcript	missense_variant	836/4025	674/2832	225/943	G/V	gGa/gTa		1		1	CLCA2	HGNC	HGNC:2016	protein_coding	YES	CCDS708.1	ENSP00000359596	Q9UQC9		UPI0000035838	NM_006536.5	deleterious(0)		5/14		Pfam_domain:PF08434,hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF66,TIGRFAM_domain:TIGR00868																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	86432458	86432458	G	T	1	0	0	0	0	1	0	0	0	3222	1174	41	2		2	CLCA2	1	86432458	Missense_Mutation	SNP	G	C3N-00560_TP	1	86432458	162523964	35	17974	382	2									
CLCA1	0	.	GRCh38	chr1	86499762	86499762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcccaaaggaagccaactCtgaggaagtctttttgttta	12	12	8	9	0	2	1	0	1	2	0	3	3	3	3	2	2	2	1	2	2	5	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2462C>A	p.Ser821Tyr	p.S821Y	ENST00000234701	15/15	173	129	44	199	199	0	strelka-mutect	CLCA1,missense_variant,p.Ser821Tyr,ENST00000234701,;CLCA1,missense_variant,p.Ser821Tyr,ENST00000394711,NM_001285.3;	A	ENST00000234701	Transcript	missense_variant	2813/3310	2462/2745	821/914	S/Y	tCt/tAt		1		1	CLCA1	HGNC	HGNC:2015	protein_coding	YES	CCDS709.1	ENSP00000234701	A8K7I4		UPI00001AE689		deleterious(0.04)		15/15		hmmpanther:PTHR10579:SF52,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868,Pfam_domain:PF08434																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	86499762	86499762	C	A	1	0	0	0	0	1	0	0	0	3221	913	32	2		2	CLCA1	1	86499762	Missense_Mutation	SNP	C	C3N-00560_TP	67304	86499762	162456660	36	17975											
BARHL2	0	.	GRCh38	chr1	90716901	90716901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactttgcgtcggggccgCggccggcggcggcggctgct	3	6	18	14	8	0	0	0	0	0	0	1	0	0	0	2	7	3	2	2	7	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.295G>C	p.Ala99Pro	p.A99P	ENST00000370445	1/3	246	154	92	221	221	0	strelka-varscan-mutect	BARHL2,missense_variant,p.Ala99Pro,ENST00000370445,NM_020063.1;	G	ENST00000370445	Transcript	missense_variant	337/1979	295/1164	99/387	A/P	Gcg/Ccg		1		-1	BARHL2	HGNC	HGNC:954	protein_coding	YES	CCDS730.1	ENSP00000359474	Q9NY43		UPI00001B50ED	NM_020063.1	tolerated_low_confidence(0.34)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24330:SF4,hmmpanther:PTHR24330																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	90716901	90716901	C	G	1	0	0	0	0	1	0	0	0	1466	768	27	4		4	BARHL2	1	90716901	Missense_Mutation	SNP	C	C3N-00560_TP	4217139	90716901	158239521	37	17976											
HFM1	0	.	GRCh38	chr1	91352605	91352605	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgtagattttataactacTaggtgagcaggcaaatttac	14	14	8	5	0	0	2	0	1	0	1	0	2	0	2	0	2	4	3	0	2	7	9	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1878A>G	p.=	p.L626L	ENST00000370425	16/39	89	74	15	132	132	0	strelka-varscan-mutect	HFM1,synonymous_variant,p.=,ENST00000370425,NM_001017975.4;HFM1,non_coding_transcript_exon_variant,,ENST00000462405,;	C	ENST00000370425	Transcript	synonymous_variant	1977/4931	1878/4308	626/1435	L	ctA/ctG		1		-1	HFM1	HGNC	HGNC:20193	protein_coding	YES	CCDS30769.2	ENSP00000359454	A2PYH4		UPI0000F51F79	NM_001017975.4			16/39		Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,SMART_domains:SM00490,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	57	91352605	91352605	T	C	1	0	0	0	0	0	0	0	1	6967	1509	53	5		5	HFM1	1	91352605	Silent	SNP	T	C3N-00560_TP	635704	91352605	157603817	38	17977											
ABCA4	0	.	GRCh38	chr1	94031939	94031939	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgagcagccggcgcccCtggggagcagacattggagt	7	6	18	10	2	0	2	0	1	0	1	0	4	0	4	3	5	3	2	3	5	0	1			C3N-00560_TP	C3N-00560_NB	C	C																c.3967G>C	p.Gly1323Arg	p.G1323R	ENST00000370225	27/50	394	323	71	410	409	1	strelka-varscan-mutect	ABCA4,missense_variant,p.Gly1323Arg,ENST00000370225,NM_000350.2;ABCA4,missense_variant,p.Gly115Arg,ENST00000536513,;	G	ENST00000370225	Transcript	missense_variant	4054/7309	3967/6822	1323/2273	G/R	Ggg/Cgg	COSM5447327	1		-1	ABCA4	HGNC	HGNC:34	protein_coding	YES	CCDS747.1	ENSP00000359245	P78363		UPI000012511C	NM_000350.2	tolerated(0.13)		27/50		Low_complexity_(Seg):seg,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	57	94031939	94031939	C	G	1	0	0	0	0	1	0	0	0	38	681	24	4		4	ABCA4	1	94031939	Missense_Mutation	SNP	C	C3N-00560_TP	2679334	94031939	154924483	39	17978											
PLPPR4	0	.	GRCh38	chr1	99301821	99301821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aataatctgcgggctaacacGgataactcagtataagaacc	16	8	8	9	2	2	1	1	0	1	1	2	2	2	2	1	2	4	2	1	2	7	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.890G>T	p.Arg297Leu	p.R297L	ENST00000370185	6/7	132	96	36	138	138	0	strelka-varscan-mutect	PLPPR4,missense_variant,p.Arg297Leu,ENST00000370185,NM_014839.4;PLPPR4,missense_variant,p.Arg139Leu,ENST00000370184,;PLPPR4,intron_variant,,ENST00000457765,NM_001166252.1;	T	ENST00000370185	Transcript	missense_variant	1387/5369	890/2292	297/763	R/L	cGg/cTg		1		1	PLPPR4	HGNC	HGNC:23496	protein_coding	YES	CCDS757.1	ENSP00000359204	Q7Z2D5		UPI0000161229	NM_014839.4	deleterious(0)		6/7		hmmpanther:PTHR10165:SF13,hmmpanther:PTHR10165,Pfam_domain:PF01569,Gene3D:1.20.144.10,SMART_domains:SM00014,Superfamily_domains:SSF48317																	MODERATE	1	SNV	1			1										PASS		rs1256827767	.												T	3	4	57	99301821	99301821	G	T	1	0	0	0	0	1	0	0	0	12212	1116	39	1		1	PLPPR4	1	99301821	Missense_Mutation	SNP	G	C3N-00560_TP	5269882	99301821	149654601	40	17979											
PALMD	0	.	GRCh38	chr1	99689805	99689805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagaagaaagcttaggcagCcctgtccaccattccccatt	12	8	7	14	0	0	2	0	0	0	2	2	2	2	2	5	1	2	2	5	1	4	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1545C>A	p.Ser515Arg	p.S515R	ENST00000263174	7/8	131	74	57	106	106	0	strelka-varscan-mutect	PALMD,missense_variant,p.Ser515Arg,ENST00000263174,NM_017734.4;PALMD,missense_variant,p.Ser515Arg,ENST00000605497,;PALMD,missense_variant,p.Ser435Arg,ENST00000615664,;PALMD,non_coding_transcript_exon_variant,,ENST00000496843,;	A	ENST00000263174	Transcript	missense_variant	1920/2510	1545/1656	515/551	S/R	agC/agA		1		1	PALMD	HGNC	HGNC:15846	protein_coding	YES	CCDS758.1	ENSP00000263174	Q9NP74	A0A0S2Z5E7	UPI000006DDD8	NM_017734.4	tolerated(0.36)		7/8		hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF5																	MODERATE	1	SNV	1			1										PASS		rs924841206	.												A	3	1	57	99689805	99689805	C	A	1	0	0	0	0	1	0	0	0	11491	738	26	2		2	PALMD	1	99689805	Missense_Mutation	SNP	C	C3N-00560_TP	387984	99689805	149266617	41	17980											
OLFM3	0	.	GRCh38	chr1	101996748	101996749	+	Frame_Shift_Ins	INS	-	-	T																															ctcaaaatattgttcataccINSttggaaggatctaatccggc																								novel		C3N-00560_TP	C3N-00560_NB	-	-																c.68dupA	p.Thr24AspfsTer4	p.T24Dfs*4	ENST00000370103	1/6	128	77	51	184	184	0	sindel-varindel-pindel	OLFM3,frameshift_variant,p.Thr24AspfsTer4,ENST00000370103,NM_058170.3;OLFM3,splice_region_variant,,ENST00000462354,;	T	ENST00000370103	Transcript	frameshift_variant,splice_region_variant	282-283/3255	68-69/1377	23/458	K/KX	aag/aaAg		1		-1	OLFM3	HGNC	HGNC:17990	protein_coding		CCDS30781.1	ENSP00000359121	Q96PB7		UPI000002AF6A	NM_058170.3			1/6		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF36																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	57	101996748	101996748	-	T	1	0	1	1	0	0	0	0	0	10929	695	24	0		0	OLFM3	1	101996748	Frame_Shift_Ins	INS	-	C3N-00560_TP	2306943	101996748	146959674	42	17981											
COL11A1	0	.	GRCh38	chr1	103003226	103003226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatacatacaggctgccctgGagctcctggagttccccttg	8	10	10	13	0	0	0	0	0	0	0	2	2	2	2	4	3	4	3	4	3	3	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1987C>A	p.Pro663Thr	p.P663T	ENST00000370096	21/67	341	290	51	442	442	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Pro675Thr,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Pro663Thr,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Pro624Thr,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Pro547Thr,ENST00000512756,NM_080630.3;COL11A1,non_coding_transcript_exon_variant,,ENST00000461720,;COL11A1,intron_variant,,ENST00000475980,;COL11A1,missense_variant,p.Pro436Thr,ENST00000635193,;	T	ENST00000370096	Transcript	missense_variant	2300/7286	1987/5421	663/1806	P/T	Cca/Aca		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0.05)		21/67		Pfam_domain:PF01391,Pfam_domain:PF01391,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	103003226	103003226	G	T	1	0	0	0	0	1	0	0	0	3455	1174	41	2		2	COL11A1	1	103003226	Missense_Mutation	SNP	G	C3N-00560_TP	1006478	103003226	145953196	43	17982											
COL11A1	0	.	GRCh38	chr1	103005858	103005858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgtgacctttgtcacctgGcagacccggaagtccatcaa	9	9	9	14	1	2	2	2	1	0	1	3	3	3	3	5	2	0	1	5	2	2	1			C3N-00560_TP	C3N-00560_NB	G	G																c.1825C>A	p.Pro609Thr	p.P609T	ENST00000370096	18/67	237	141	96	233	233	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Pro621Thr,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Pro609Thr,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Pro570Thr,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Pro493Thr,ENST00000512756,NM_080630.3;COL11A1,downstream_gene_variant,,ENST00000427239,;COL11A1,non_coding_transcript_exon_variant,,ENST00000461720,;COL11A1,upstream_gene_variant,,ENST00000475980,;COL11A1,missense_variant,p.Pro382Thr,ENST00000635193,;	T	ENST00000370096	Transcript	missense_variant	2138/7286	1825/5421	609/1806	P/T	Cca/Aca	COSM5443465,COSM5443466	1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0)		18/67		Pfam_domain:PF01391											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	57	103005858	103005858	G	T	1	0	0	0	0	1	0	0	0	3455	1203	42	2		2	COL11A1	1	103005858	Missense_Mutation	SNP	G	C3N-00560_TP	2632	103005858	145950564	44	17983											
AMY2A	0	.	GRCh38	chr1	103617449	103617449	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcaaagcaaaatgaagttCtttctgttgcttttcaccat	11	16	5	9	0	4	1	2	1	2	0	4	1	4	1	1	0	2	4	1	0	4	6	rs372297866		C3N-00560_TP	C3N-00560_NB	C	C																c.9C>G	p.Phe3Leu	p.F3L	ENST00000622339	2/11	175	145	30	189	188	1	strelka-varscan-mutect	AMY2A,missense_variant,p.Phe3Leu,ENST00000622339,;AMY2A,missense_variant,p.Phe3Leu,ENST00000414303,NM_000699.3;AMY2A,missense_variant,p.Phe2Leu,ENST00000423678,;AMY2A,upstream_gene_variant,,ENST00000497748,;	G	ENST00000622339	Transcript	missense_variant	304/1862	9/1536	3/511	F/L	ttC/ttG	rs372297866	1		1	AMY2A	HGNC	HGNC:477	protein_coding	YES	CCDS783.1	ENSP00000481450	P04746		UPI0000000C80		tolerated(0.87)		2/11		hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF161,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	5			1										PASS		rs372297866	.												G	3	3	57	103617449	103617449	C	G	1	0	0	0	0	1	0	0	0	691	912	32	4		4	AMY2A	1	103617449	Missense_Mutation	SNP	C	C3N-00560_TP	611591	103617449	145338973	45	17984											
NTNG1	0	.	GRCh38	chr1	107148717	107148717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagatttacacggaagaaGggaaagtttgggattacatg	14	10	12	5	1	1	2	1	0	0	2	1	5	1	5	0	3	2	1	0	3	5	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.124G>T	p.Gly42Trp	p.G42W	ENST00000370068	2/8	354	301	53	376	376	0	strelka-varscan-mutect	NTNG1,missense_variant,p.Gly42Trp,ENST00000370067,;NTNG1,missense_variant,p.Gly42Trp,ENST00000370068,;NTNG1,missense_variant,p.Gly42Trp,ENST00000370073,NM_001113226.1;NTNG1,missense_variant,p.Gly42Trp,ENST00000370071,NM_001113228.1;NTNG1,missense_variant,p.Gly42Trp,ENST00000370074,NM_014917.2;NTNG1,missense_variant,p.Gly42Trp,ENST00000370065,;NTNG1,missense_variant,p.Gly42Trp,ENST00000370066,;NTNG1,non_coding_transcript_exon_variant,,ENST00000462149,;NTNG1,downstream_gene_variant,,ENST00000370076,;NTNG1,non_coding_transcript_exon_variant,,ENST00000294649,;	T	ENST00000370068	Transcript	missense_variant	970/4034	124/1620	42/539	G/W	Ggg/Tgg		1		1	NTNG1	HGNC	HGNC:23319	protein_coding	YES	CCDS44180.1	ENSP00000359085	Q9Y2I2		UPI0000458A3E		deleterious(0)		2/8		hmmpanther:PTHR10574:SF28,hmmpanther:PTHR10574																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	107148717	107148717	G	T	1	0	0	0	0	1	0	0	0	10769	1000	35	2		2	NTNG1	1	107148717	Missense_Mutation	SNP	G	C3N-00560_TP	3531268	107148717	141807705	46	17985											
WDR47	0	.	GRCh38	chr1	108983370	108983370	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aataactgcccacaaggactCcaggccacacagtaaatgga	16	5	8	12	0	0	0	0	0	0	0	1	2	1	2	3	3	2	1	3	3	5	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2031G>C	p.Trp677Cys	p.W677C	ENST00000400794	11/15	155	126	29	130	130	0	strelka-varscan-mutect	WDR47,missense_variant,p.Trp670Cys,ENST00000369965,NM_014969.5;WDR47,missense_variant,p.Trp669Cys,ENST00000369962,NM_001142551.1;WDR47,missense_variant,p.Trp641Cys,ENST00000357672,;WDR47,missense_variant,p.Trp677Cys,ENST00000400794,NM_001142550.1;WDR47,missense_variant,p.Trp641Cys,ENST00000361054,;RP5-1065J22.2,downstream_gene_variant,,ENST00000439282,;	G	ENST00000400794	Transcript	missense_variant	2165/4134	2031/2784	677/927	W/C	tgG/tgC		1		-1	WDR47	HGNC	HGNC:29141	protein_coding	YES	CCDS44186.1	ENSP00000383599	O94967		UPI0001639B05	NM_001142550.1	deleterious(0)		11/15		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19863,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	108983370	108983370	C	G	1	0	0	0	0	1	0	0	0	17860	856	30	4		4	WDR47	1	108983370	Missense_Mutation	SNP	C	C3N-00560_TP	1834653	108983370	139973052	47	17986											
UBL4B	0	.	GRCh38	chr1	110112754	110112754	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaatgtcatcatgcagcccTtggagaagatggcgctaaag	12	9	11	9	1	3	2	3	0	0	2	3	3	3	2	1	2	2	2	1	2	4	2	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.220T>A	p.Leu74Met	p.L74M	ENST00000334179	1/1	327	215	112	334	334	0	strelka-varscan-mutect	UBL4B,missense_variant,p.Leu74Met,ENST00000334179,NM_203412.1;LINC01397,downstream_gene_variant,,ENST00000554808,;	A	ENST00000334179	Transcript	missense_variant	287/1478	220/525	74/174	L/M	Ttg/Atg		1		1	UBL4B	HGNC	HGNC:32309	protein_coding	YES	CCDS820.1	ENSP00000334044	Q8N7F7		UPI0000072926	NM_203412.1	tolerated(0.05)		1/1		hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF108,Superfamily_domains:SSF54236																	MODERATE		SNV				1										PASS		.	.												A	3	1	57	110112754	110112754	T	A	1	0	0	0	0	1	0	0	0	17412	1606	56	4		4	UBL4B	1	110112754	Missense_Mutation	SNP	T	C3N-00560_TP	1129384	110112754	138843668	48	17987											
MAGI3	0	.	GRCh38	chr1	113585416	113585416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggaactcccaagcctccaGcagaacccagcccttttcag	11	7	7	16	0	1	1	1	0	0	1	3	2	3	2	5	1	5	1	5	1	3	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.583G>T	p.Ala195Ser	p.A195S	ENST00000307546	4/21	281	237	44	243	243	0	strelka-varscan-mutect	MAGI3,missense_variant,p.Ala195Ser,ENST00000369615,NM_152900.2;MAGI3,missense_variant,p.Ala195Ser,ENST00000307546,NM_001142782.1;MAGI3,missense_variant,p.Ala195Ser,ENST00000369617,;MAGI3,missense_variant,p.Ala195Ser,ENST00000369611,;MAGI3,downstream_gene_variant,,ENST00000486456,;	T	ENST00000307546	Transcript	missense_variant	658/6430	583/4446	195/1481	A/S	Gca/Tca		1		1	MAGI3	HGNC	HGNC:29647	protein_coding	YES	CCDS44196.1	ENSP00000304604	Q5TCQ9		UPI00004589AE	NM_001142782.1	tolerated(0.19)		4/21		hmmpanther:PTHR10316:SF10,hmmpanther:PTHR10316,Gene3D:3.30.63.10,SMART_domains:SM00072																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	113585416	113585416	G	T	1	0	0	0	0	1	0	0	0	9110	971	34	2		2	MAGI3	1	113585416	Missense_Mutation	SNP	G	C3N-00560_TP	3472662	113585416	135371006	49	17988											
HSD3B2	0	.	GRCh38	chr1	119422314	119422314	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaccttaattacatcctGagcaaagagtttggcctccg	12	11	8	10	1	0	2	0	1	0	1	2	3	2	2	4	1	3	2	4	1	4	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.813G>T	p.=	p.L271L	ENST00000543831	4/4	420	276	144	339	338	1	strelka-varscan-mutect	HSD3B2,synonymous_variant,p.=,ENST00000543831,NM_001166120.1;HSD3B2,synonymous_variant,p.=,ENST00000369416,NM_000198.3;HSD3B2,downstream_gene_variant,,ENST00000433745,;HSD3B2,downstream_gene_variant,,ENST00000471656,;HSD3B2,downstream_gene_variant,,ENST00000443865,;HSD3B2,downstream_gene_variant,,ENST00000448448,;	T	ENST00000543831	Transcript	synonymous_variant	1062/1783	813/1119	271/372	L	ctG/ctT		1		1	HSD3B2	HGNC	HGNC:5218	protein_coding	YES	CCDS902.1	ENSP00000445122	P26439	A0A024R0F9	UPI0000001C6C	NM_001166120.1			4/4		Gene3D:3.40.50.720,Pfam_domain:PF01073,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF444,Superfamily_domains:SSF51735																	LOW	1	SNV	3			1										PASS		.	.												T	2	4	57	119422314	119422314	G	T	1	0	0	0	0	0	0	0	1	7285	1277	45	2		2	HSD3B2	1	119422314	Silent	SNP	G	C3N-00560_TP	5836898	119422314	129534108	50	17989											
HSD3B1	0	.	GRCh38	chr1	119513891	119513891	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgccagtcttcatctacaCcagtagcatagaggtagccg	10	10	10	11	1	3	1	1	0	2	1	3	1	3	1	3	1	4	3	3	1	4	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.368C>G	p.Thr123Ser	p.T123S	ENST00000369413	4/4	141	97	44	123	123	0	strelka-mutect	HSD3B1,missense_variant,p.Thr123Ser,ENST00000369413,NM_000862.2;HSD3B1,missense_variant,p.Thr123Ser,ENST00000528909,;HSD3B1,downstream_gene_variant,,ENST00000531340,;HSD3B1,downstream_gene_variant,,ENST00000492140,;	G	ENST00000369413	Transcript	missense_variant	513/1676	368/1122	123/373	T/S	aCc/aGc		1		1	HSD3B1	HGNC	HGNC:5217	protein_coding	YES	CCDS903.1	ENSP00000358421	P14060		UPI0000036BD2	NM_000862.2	tolerated(0.07)		4/4		Gene3D:3.40.50.720,Pfam_domain:PF01073,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF378,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	119513891	119513891	C	G	1	0	0	0	0	1	0	0	0	7284	507	18	4		4	HSD3B1	1	119513891	Missense_Mutation	SNP	C	C3N-00560_TP	91577	119513891	129442531	51	17990											
SV2A	0	.	GRCh38	chr1	149906834	149906834	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttatcagacggctgttCacaaacttgtactcgaacag	11	12	8	10	2	2	1	2	0	0	1	3	2	2	1	0	1	3	4	0	1	4	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1701G>T	p.=	p.V567V	ENST00000369146	11/13	352	247	105	334	333	1	strelka-varscan-mutect	SV2A,synonymous_variant,p.=,ENST00000369146,NM_014849.4;SV2A,synonymous_variant,p.=,ENST00000369145,;	A	ENST00000369146	Transcript	synonymous_variant	2192/4416	1701/2229	567/742	V	gtG/gtT		1		-1	SV2A	HGNC	HGNC:20566	protein_coding	YES	CCDS940.1	ENSP00000358142	Q7L0J3		UPI000000DAD2	NM_014849.4			11/13		Pfam_domain:PF13599,PROSITE_profiles:PS50850,hmmpanther:PTHR23511,hmmpanther:PTHR23511:SF11,Superfamily_domains:SSF141571,TIGRFAM_domain:TIGR01299																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	149906834	149906834	C	A	1	0	0	0	0	0	0	0	1	15801	813	29	2		2	SV2A	1	149906834	Silent	SNP	C	C3N-00560_TP	30392943	149906834	99049588	52	17991											
MTMR11	0	.	GRCh38	chr1	149934267	149934267	+	Nonsense_Mutation	SNP	C	C	A																															ctgcttcttccgctcagtctCccagtcttccgctgtctcca																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.607G>T	p.Glu203Ter	p.E203*	ENST00000439741	7/17	225	178	47	221	220	1	strelka-varscan-mutect	MTMR11,stop_gained,p.Glu203Ter,ENST00000439741,NM_001145862.1;MTMR11,stop_gained,p.Glu131Ter,ENST00000369140,NM_181873.3;OTUD7B,downstream_gene_variant,,ENST00000581312,NM_020205.3;MTMR11,non_coding_transcript_exon_variant,,ENST00000492824,;MTMR11,non_coding_transcript_exon_variant,,ENST00000482025,;MTMR11,non_coding_transcript_exon_variant,,ENST00000466496,;MTMR11,non_coding_transcript_exon_variant,,ENST00000479272,;MTMR11,upstream_gene_variant,,ENST00000490310,;MTMR11,upstream_gene_variant,,ENST00000495054,;MTMR11,upstream_gene_variant,,ENST00000493562,;MTMR11,non_coding_transcript_exon_variant,,ENST00000482343,;	A	ENST00000439741	Transcript	stop_gained	858/2856	607/2130	203/709	E/*	Gag/Tag		1		-1	MTMR11	HGNC	HGNC:24307	protein_coding	YES	CCDS72902.1	ENSP00000391668	A4FU01		UPI000173AA17	NM_001145862.1			7/17		PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF51,hmmpanther:PTHR10807,Pfam_domain:PF06602,Superfamily_domains:SSF52799																	HIGH		SNV	2			1										PASS		.	.												A	4	1	57	149934267	149934267	C	A	1	0	0	0	0	0	1	0	0	9928	864	30	2		2	MTMR11	1	149934267	Nonsense_Mutation	SNP	C	C3N-00560_TP	27433	149934267	99022155	53	17992	383	2									
MTMR11	0	.	GRCh38	chr1	149934268	149934268	+	Missense_Mutation	SNP	C	C	A																															tgcttcttccgctcagtctcCcagtcttccgctgtctccat																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.606G>T	p.Trp202Cys	p.W202C	ENST00000439741	7/17	227	179	48	221	221	0	strelka-varscan-mutect	MTMR11,missense_variant,p.Trp202Cys,ENST00000439741,NM_001145862.1;MTMR11,missense_variant,p.Trp130Cys,ENST00000369140,NM_181873.3;OTUD7B,downstream_gene_variant,,ENST00000581312,NM_020205.3;MTMR11,non_coding_transcript_exon_variant,,ENST00000492824,;MTMR11,non_coding_transcript_exon_variant,,ENST00000482025,;MTMR11,non_coding_transcript_exon_variant,,ENST00000466496,;MTMR11,non_coding_transcript_exon_variant,,ENST00000479272,;MTMR11,upstream_gene_variant,,ENST00000490310,;MTMR11,upstream_gene_variant,,ENST00000495054,;MTMR11,upstream_gene_variant,,ENST00000493562,;MTMR11,non_coding_transcript_exon_variant,,ENST00000482343,;	A	ENST00000439741	Transcript	missense_variant	857/2856	606/2130	202/709	W/C	tgG/tgT		1		-1	MTMR11	HGNC	HGNC:24307	protein_coding	YES	CCDS72902.1	ENSP00000391668	A4FU01		UPI000173AA17	NM_001145862.1	deleterious(0)		7/17		PROSITE_profiles:PS51339,hmmpanther:PTHR10807:SF51,hmmpanther:PTHR10807,Superfamily_domains:SSF52799																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	57	149934268	149934268	C	A	1	0	0	0	0	1	0	0	0	9928	624	22	2		2	MTMR11	1	149934268	Missense_Mutation	SNP	C	C3N-00560_TP	1	149934268	99022154	54	17993	383	2									
OTUD7B	0	.	GRCh38	chr1	149967443	149967443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattgctccccccacccccaCcattggaggagacatgggac	9	6	9	17	0	0	1	0	0	0	1	1	4	1	3	6	3	1	1	6	3	0	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.353G>A	p.Gly118Asp	p.G118D	ENST00000581312	4/12	172	127	45	133	133	0	strelka-varscan-mutect	OTUD7B,missense_variant,p.Gly118Asp,ENST00000581312,NM_020205.3;OTUD7B,missense_variant,p.Gly118Asp,ENST00000417191,;OTUD7B,intron_variant,,ENST00000619871,;	T	ENST00000581312	Transcript	missense_variant	648/8872	353/2532	118/843	G/D	gGt/gAt		1		-1	OTUD7B	HGNC	HGNC:16683	protein_coding	YES	CCDS72903.1	ENSP00000462729	Q6GQQ9		UPI000020415D	NM_020205.3	tolerated(0.41)		4/12		hmmpanther:PTHR13367,hmmpanther:PTHR13367:SF9,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	149967443	149967443	C	T	1	0	0	0	0	1	0	0	0	11388	507	18	3		3	OTUD7B	1	149967443	Missense_Mutation	SNP	C	C3N-00560_TP	33175	149967443	98988979	55	17994											
TARS2	0	.	GRCh38	chr1	150506957	150506957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaagagaacagtgaacattCggactcgagataatcgtcgc	14	8	11	8	4	0	3	0	1	0	2	4	6	0	4	0	1	2	1	0	1	4	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2050C>T	p.Arg684Trp	p.R684W	ENST00000369064	18/18	225	146	79	160	160	0	strelka-varscan-mutect	TARS2,missense_variant,p.Arg684Trp,ENST00000369064,NM_025150.4;TARS2,missense_variant,p.Arg409Trp,ENST00000438568,;TARS2,missense_variant,p.Arg602Trp,ENST00000606933,NM_001271895.1;TARS2,missense_variant,p.Arg554Trp,ENST00000369054,NM_001271896.1;ECM1,upstream_gene_variant,,ENST00000369047,NM_004425.3;ECM1,upstream_gene_variant,,ENST00000369049,NM_001202858.1;ECM1,upstream_gene_variant,,ENST00000346569,NM_022664.2;ECM1,upstream_gene_variant,,ENST00000470432,;ECM1,upstream_gene_variant,,ENST00000496744,;ECM1,upstream_gene_variant,,ENST00000498579,;TARS2,downstream_gene_variant,,ENST00000463555,;TARS2,downstream_gene_variant,,ENST00000480070,;ECM1,upstream_gene_variant,,ENST00000490346,;TARS2,downstream_gene_variant,,ENST00000483046,;TARS2,3_prime_UTR_variant,,ENST00000369051,;TARS2,3_prime_UTR_variant,,ENST00000467982,;	T	ENST00000369064	Transcript	missense_variant	2084/2729	2050/2157	684/718	R/W	Cgg/Tgg		1		1	TARS2	HGNC	HGNC:30740	protein_coding	YES	CCDS952.1	ENSP00000358060	Q9BW92		UPI00000492D1	NM_025150.4	deleterious(0)		18/18		HAMAP:MF_00184,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF27,TIGRFAM_domain:TIGR00418,Gene3D:3.40.50.800,Pfam_domain:PF03129,Superfamily_domains:SSF52954																	MODERATE	1	SNV	1			1										PASS		rs1294564776	.												T	3	4	57	150506957	150506957	C	T	1	0	0	0	0	1	0	0	0	15959	875	31	1		1	TARS2	1	150506957	Missense_Mutation	SNP	C	C3N-00560_TP	539514	150506957	98449465	56	17995											
SEMA6C	0	.	GRCh38	chr1	151136529	151136529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttgaacttgccctcaaacCcacgctcaatctcatccagg	10	9	5	17	1	3	1	3	1	1	0	5	1	4	1	4	1	3	1	4	1	3	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1025G>T	p.Gly342Val	p.G342V	ENST00000368913	12/20	237	185	52	197	197	0	strelka-varscan-mutect	SEMA6C,missense_variant,p.Gly342Val,ENST00000341697,;SEMA6C,missense_variant,p.Gly342Val,ENST00000368914,NM_030913.4;SEMA6C,missense_variant,p.Gly342Val,ENST00000368913,NM_001178061.1;SEMA6C,missense_variant,p.Gly302Val,ENST00000368912,NM_001178062.1;SEMA6C,missense_variant,p.Gly342Val,ENST00000613223,;SEMA6C,missense_variant,p.Gly342Val,ENST00000621728,;RP11-68I18.10,upstream_gene_variant,,ENST00000563624,;SEMA6C,upstream_gene_variant,,ENST00000479820,;SEMA6C,upstream_gene_variant,,ENST00000464018,;SEMA6C,upstream_gene_variant,,ENST00000489944,;SEMA6C,downstream_gene_variant,,ENST00000485745,;	A	ENST00000368913	Transcript	missense_variant	1154/3817	1025/2889	342/962	G/V	gGg/gTg		1		-1	SEMA6C	HGNC	HGNC:10740	protein_coding	YES	CCDS53364.1	ENSP00000357909	Q9H3T2		UPI00001414D0	NM_001178061.1	tolerated(0.39)		12/20		PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF11,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	151136529	151136529	C	A	1	0	0	0	0	1	0	0	0	14317	623	22	2		2	SEMA6C	1	151136529	Missense_Mutation	SNP	C	C3N-00560_TP	629572	151136529	97819893	57	17996											
PSMD4	0	.	GRCh38	chr1	151264891	151264891	+	Frame_Shift_Del	DEL	A	A	-																															cgcatcattgcctttgtgggAagcccagtggaggacaatga																								rs779184227		C3N-00560_TP	C3N-00560_NB	A	A																c.343delA	p.Ser115AlafsTer11	p.S115Afs*11	ENST00000368884	4/10	234	165	69	225	225	0	sindel-varindel	PSMD4,frameshift_variant,p.Ser115AlafsTer11,ENST00000368884,NM_002810.2;PSMD4,frameshift_variant,p.Ser115AlafsTer11,ENST00000368881,;PSMD4,frameshift_variant,p.Ser100AlafsTer11,ENST00000437736,;PSMD4,frameshift_variant,p.Ser3AlafsTer11,ENST00000445776,;PSMD4,upstream_gene_variant,,ENST00000453615,;PSMD4,non_coding_transcript_exon_variant,,ENST00000469786,;PSMD4,non_coding_transcript_exon_variant,,ENST00000476855,;PSMD4,non_coding_transcript_exon_variant,,ENST00000462970,;PSMD4,downstream_gene_variant,,ENST00000461434,;PSMD4,upstream_gene_variant,,ENST00000427779,;PSMD4,upstream_gene_variant,,ENST00000491857,;PSMD4,upstream_gene_variant,,ENST00000470396,;	-	ENST00000368884	Transcript	frameshift_variant	422/1350	342/1134	114/377	G/X	ggA/gg	rs779184227	1		1	PSMD4	HGNC	HGNC:9561	protein_coding	YES	CCDS991.1	ENSP00000357879	P55036		UPI0000038DA5	NM_002810.2			4/10		PROSITE_profiles:PS50234,hmmpanther:PTHR10223,Pfam_domain:PF13519,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	57	151264891	151264891	A	-	1	0	1	0	1	0	0	0	0	12851	233	9	0		0	PSMD4	1	151264891	Frame_Shift_Del	DEL	A	C3N-00560_TP	128362	151264891	97691531	58	17997	384	2									
PSMD4	0	.	GRCh38	chr1	151264893	151264893	+	Missense_Mutation	SNP	G	G	T																															catcattgcctttgtgggaaGcccagtggaggacaatgaga																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.344G>T	p.Ser115Ile	p.S115I	ENST00000368884	4/10	254	180	74	230	230	0	strelka-mutect	PSMD4,missense_variant,p.Ser115Ile,ENST00000368884,NM_002810.2;PSMD4,missense_variant,p.Ser115Ile,ENST00000368881,;PSMD4,missense_variant,p.Ser100Ile,ENST00000437736,;PSMD4,missense_variant,p.Ser3Ile,ENST00000445776,;PSMD4,upstream_gene_variant,,ENST00000453615,;PSMD4,non_coding_transcript_exon_variant,,ENST00000469786,;PSMD4,non_coding_transcript_exon_variant,,ENST00000476855,;PSMD4,non_coding_transcript_exon_variant,,ENST00000462970,;PSMD4,downstream_gene_variant,,ENST00000461434,;PSMD4,upstream_gene_variant,,ENST00000427779,;PSMD4,upstream_gene_variant,,ENST00000491857,;PSMD4,upstream_gene_variant,,ENST00000470396,;	T	ENST00000368884	Transcript	missense_variant	424/1350	344/1134	115/377	S/I	aGc/aTc		1		1	PSMD4	HGNC	HGNC:9561	protein_coding	YES	CCDS991.1	ENSP00000357879	P55036		UPI0000038DA5	NM_002810.2	deleterious(0)		4/10		PROSITE_profiles:PS50234,hmmpanther:PTHR10223,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	151264893	151264893	G	T	1	0	0	0	0	1	0	0	0	12851	971	34	2		2	PSMD4	1	151264893	Missense_Mutation	SNP	G	C3N-00560_TP	2	151264893	97691529	59	17998	384	2									
TDRKH	0	.	GRCh38	chr1	151775129	151775129	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaggaagctcaattgcgTatcctttgtgtactaattct	9	16	7	9	1	3	0	2	0	1	0	4	1	4	1	1	1	3	3	1	1	5	7	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1472A>T	p.Tyr491Phe	p.Y491F	ENST00000368822	11/14	215	152	63	186	186	0	strelka-varscan-mutect	TDRKH,missense_variant,p.Tyr491Phe,ENST00000368822,;TDRKH,missense_variant,p.Tyr491Phe,ENST00000368824,NM_001083965.1;TDRKH,missense_variant,p.Tyr491Phe,ENST00000458431,NM_001083963.1;TDRKH,missense_variant,p.Tyr487Phe,ENST00000368823,;TDRKH,missense_variant,p.Tyr446Phe,ENST00000368825,NM_001083964.1;TDRKH,missense_variant,p.Tyr491Phe,ENST00000368827,NM_006862.3;TDRKH,missense_variant,p.Tyr491Phe,ENST00000440583,;OAZ3,downstream_gene_variant,,ENST00000479764,;OAZ3,downstream_gene_variant,,ENST00000400999,NM_016178.2;OAZ3,downstream_gene_variant,,ENST00000321531,NM_001134939.1;OAZ3,downstream_gene_variant,,ENST00000627780,;OAZ3,downstream_gene_variant,,ENST00000635322,;OAZ3,downstream_gene_variant,,ENST00000453029,NM_001301371.1;TDRKH,downstream_gene_variant,,ENST00000526378,;OAZ3,downstream_gene_variant,,ENST00000635374,;OAZ3,downstream_gene_variant,,ENST00000582415,;TDRKH,downstream_gene_variant,,ENST00000484421,;TDRKH,3_prime_UTR_variant,,ENST00000525790,;TDRKH,3_prime_UTR_variant,,ENST00000526413,;TDRKH,downstream_gene_variant,,ENST00000486986,;TDRKH,downstream_gene_variant,,ENST00000494725,;TDRKH,downstream_gene_variant,,ENST00000530202,;	A	ENST00000368822	Transcript	missense_variant	2106/3093	1472/1686	491/561	Y/F	tAc/tTc		1		-1	TDRKH	HGNC	HGNC:11713	protein_coding	YES	CCDS41394.1	ENSP00000357812	Q9Y2W6		UPI0000204267		deleterious(0.03)		11/14		hmmpanther:PTHR22948																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	151775129	151775129	T	A	1	0	0	0	0	1	0	0	0	16147	1638	57	4		4	TDRKH	1	151775129	Missense_Mutation	SNP	T	C3N-00560_TP	510236	151775129	97181293	60	17999											
FLG	0	.	GRCh38	chr1	152311736	152311736	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgaagcttgtctgcgCggaatgcctgagtgtctgga	8	10	15	8	2	2	3	0	2	2	1	2	5	2	5	1	2	3	2	1	2	2	1	rs149376159		C3N-00560_TP	C3N-00560_NB	C	C																c.3150G>T	p.=	p.P1050P	ENST00000368799	3/3	733	492	241	633	633	0	strelka-varscan-mutect	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	A	ENST00000368799	Transcript	synonymous_variant	3186/12747	3150/12186	1050/4061	P	ccG/ccT	rs149376159	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1			3/3		Pfam_domain:PF03516,Prints_domain:PR00487																	LOW	1	SNV	1			1										PASS		rs149376159	.												A	2	1	57	152311736	152311736	C	A	1	0	0	0	0	0	0	0	1	5784	755	27	1		1	FLG	1	152311736	Silent	SNP	C	C3N-00560_TP	536607	152311736	96644686	61	18000											
LCE5A	0	.	GRCh38	chr1	152511732	152511732	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctctgagggtggtggCtgctgcctgagccaccacag	6	8	15	12	0	1	2	0	2	1	0	1	2	1	2	3	3	5	4	3	3	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.198C>A	p.=	p.G66G	ENST00000334269	2/2	428	313	115	385	385	0	strelka-varscan-mutect	LCE5A,synonymous_variant,p.=,ENST00000334269,NM_178438.4;CRCT1,upstream_gene_variant,,ENST00000368790,NM_019060.2;AL135842.1,downstream_gene_variant,,ENST00000624892,;	A	ENST00000334269	Transcript	synonymous_variant	374/819	198/357	66/118	G	ggC/ggA		1		1	LCE5A	HGNC	HGNC:16614	protein_coding	YES	CCDS1011.1	ENSP00000333952	Q5TCM9		UPI00001615D7	NM_178438.4			2/2		Pfam_domain:PF14672,hmmpanther:PTHR23263,Low_complexity_(Seg):seg																	LOW		SNV	3			1										PASS		.	.												A	2	1	57	152511732	152511732	C	A	1	0	0	0	0	0	0	0	1	8580	784	28	2		2	LCE5A	1	152511732	Silent	SNP	C	C3N-00560_TP	199996	152511732	96444690	62	18001											
KPRP	0	.	GRCh38	chr1	152759617	152759617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagcagatccagtgccGcctgccgctccaacagtgct	8	6	10	17	2	0	1	0	0	0	1	2	1	2	1	6	0	6	4	6	0	1	0	rs77368440		C3N-00560_TP	C3N-00560_NB	G	G																c.29G>T	p.Arg10Leu	p.R10L	ENST00000606109	1/1	137	87	50	118	118	0	strelka-varscan-mutect	KPRP,missense_variant,p.Arg10Leu,ENST00000606109,NM_001025231.1;	T	ENST00000606109	Transcript	missense_variant	57/2492	29/1740	10/579	R/L	cGc/cTc	rs77368440,COSM2156689	1		1	KPRP	HGNC	HGNC:31823	protein_coding	YES	CCDS30862.1	ENSP00000475216	Q5T749		UPI0000199942	NM_001025231.1	tolerated(0.12)		1/1		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV			0,1	1										PASS		rs77368440	.												T	3	4	57	152759617	152759617	G	T	1	0	0	0	0	1	0	0	0	8316	1087	38	1		1	KPRP	1	152759617	Missense_Mutation	SNP	G	C3N-00560_TP	247885	152759617	96196805	63	18002											
IVL	0	.	GRCh38	chr1	152911254	152911254	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagcacctggagaagcAggaggcacagctggagctcc	11	4	16	10	0	0	2	0	1	0	1	1	5	1	4	2	5	4	5	2	5	2	0	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1457A>T	p.Gln486Leu	p.Q486L	ENST00000368764	2/2	355	260	95	305	305	0	strelka-varscan-mutect	IVL,missense_variant,p.Gln486Leu,ENST00000368764,NM_005547.2;	T	ENST00000368764	Transcript	missense_variant	1521/2153	1457/1758	486/585	Q/L	cAg/cTg		1		1	IVL	HGNC	HGNC:6187	protein_coding	YES	CCDS1030.1	ENSP00000357753	P07476		UPI000013E24A	NM_005547.2	deleterious_low_confidence(0.01)		2/2		Pfam_domain:PF00904																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	152911254	152911254	A	T	1	0	0	0	0	1	0	0	0	7835	188	7	4		4	IVL	1	152911254	Missense_Mutation	SNP	A	C3N-00560_TP	151637	152911254	96045168	64	18003											
LOR	0	.	GRCh38	chr1	153261039	153261039	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtggcggcggcagcggCggtggtggctgcggcttctt	1	8	22	10	6	1	0	0	0	1	0	1	0	1	0	0	10	2	3	0	10	0	2	rs747858365		C3N-00560_TP	C3N-00560_NB	C	C																c.90C>A	p.=	p.G30G	ENST00000368742	2/2	276	184	92	277	277	0	strelka-varscan-mutect	LOR,synonymous_variant,p.=,ENST00000368742,NM_000427.2;	A	ENST00000368742	Transcript	synonymous_variant	147/1230	90/939	30/312	G	ggC/ggA	rs747858365	1		1	LOR	HGNC	HGNC:6663	protein_coding	YES	CCDS30870.1	ENSP00000357731	P23490		UPI0000470BBD	NM_000427.2			2/2		Low_complexity_(Seg):seg,PROSITE_profiles:PS51257,hmmpanther:PTHR39228,Pfam_domain:PF15847																	LOW	1	SNV	1			1										PASS		rs747858365	.												A	2	1	57	153261039	153261039	C	A	1	0	0	0	0	0	0	0	1	8799	755	27	1		1	LOR	1	153261039	Silent	SNP	C	C3N-00560_TP	349785	153261039	95695383	65	18004											
S100A5	0	.	GRCh38	chr1	153540113	153540113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccttcctactcagggtcaGtttgctaccctctctccccg	4	14	6	17	1	3	0	2	0	1	0	7	0	6	0	5	1	3	2	5	1	2	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.79C>G	p.Leu27Val	p.L27V	ENST00000368718	3/4	244	173	71	227	227	0	strelka-varscan-mutect	S100A5,missense_variant,p.Leu27Val,ENST00000368718,NM_002962.1;S100A5,missense_variant,p.Leu27Val,ENST00000368717,;S100A6,upstream_gene_variant,,ENST00000368720,;S100A6,upstream_gene_variant,,ENST00000496817,;S100A6,upstream_gene_variant,,ENST00000368719,NM_014624.3;S100A4,downstream_gene_variant,,ENST00000368716,NM_002961.2;S100A4,downstream_gene_variant,,ENST00000368715,;S100A4,downstream_gene_variant,,ENST00000354332,NM_019554.2;S100A4,downstream_gene_variant,,ENST00000368714,;S100A6,upstream_gene_variant,,ENST00000462776,;BX470102.3,downstream_gene_variant,,ENST00000420695,;S100A4,downstream_gene_variant,,ENST00000481009,;S100A4,downstream_gene_variant,,ENST00000468373,;S100A6,upstream_gene_variant,,ENST00000462951,;	C	ENST00000368718	Transcript	missense_variant	361/710	79/279	27/92	L/V	Ctg/Gtg		1		-1	S100A5	HGNC	HGNC:10495	protein_coding	YES	CCDS1041.2	ENSP00000357707	P33763		UPI00001353F4	NM_002962.1	tolerated(0.13)		3/4		Gene3D:1.10.238.10,Pfam_domain:PF01023,hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF65,SMART_domains:SM01394,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	153540113	153540113	G	C	1	0	0	0	0	1	0	0	0	14040	1020	36	4		4	S100A5	1	153540113	Missense_Mutation	SNP	G	C3N-00560_TP	279074	153540113	95416309	66	18005											
AQP10	0	.	GRCh38	chr1	154323004	154323004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacctgaatccagccttCtccctggccatgtgcatcgt	6	10	8	17	1	1	1	0	1	1	0	4	1	2	1	6	1	2	1	6	1	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.255C>A	p.Phe85Leu	p.F85L	ENST00000324978	3/6	294	190	104	226	226	0	strelka-varscan-mutect	AQP10,missense_variant,p.Phe85Leu,ENST00000484864,;AQP10,missense_variant,p.Phe85Leu,ENST00000324978,NM_080429.2;ATP8B2,upstream_gene_variant,,ENST00000368489,NM_020452.3;ATP8B2,upstream_gene_variant,,ENST00000368487,NM_001005855.1;AQP10,non_coding_transcript_exon_variant,,ENST00000355197,;ATP8B2,upstream_gene_variant,,ENST00000368490,;	A	ENST00000324978	Transcript	missense_variant	295/1791	255/906	85/301	F/L	ttC/ttA		1		1	AQP10	HGNC	HGNC:16029	protein_coding	YES	CCDS1065.1	ENSP00000318355	Q96PS8		UPI000007028A	NM_080429.2	deleterious(0.05)		3/6		hmmpanther:PTHR19139:SF138,hmmpanther:PTHR19139,PROSITE_patterns:PS00221,TIGRFAM_domain:TIGR00861,Pfam_domain:PF00230,Gene3D:1.20.1080.10,Superfamily_domains:SSF81338,Prints_domain:PR00783																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	154323004	154323004	C	A	1	0	0	0	0	1	0	0	0	945	912	32	2		2	AQP10	1	154323004	Missense_Mutation	SNP	C	C3N-00560_TP	782891	154323004	94633418	67	18006											
ATP8B2	0	.	GRCh38	chr1	154330426	154330426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcgcgggctaatgaccGagaatacaatgagaaattcc	14	6	13	8	3	0	3	0	2	0	2	1	6	1	3	2	2	1	1	2	2	5	3	rs149978531		C3N-00560_TP	C3N-00560_NB	G	G																c.161G>T	p.Arg54Leu	p.R54L	ENST00000368489	3/28	178	129	49	114	114	0	strelka-varscan-mutect	ATP8B2,missense_variant,p.Arg54Leu,ENST00000368489,NM_020452.3;ATP8B2,missense_variant,p.Arg21Leu,ENST00000368487,NM_001005855.1;ATP8B2,non_coding_transcript_exon_variant,,ENST00000426445,;ATP8B2,non_coding_transcript_exon_variant,,ENST00000368490,;ATP8B2,upstream_gene_variant,,ENST00000514107,;	T	ENST00000368489	Transcript	missense_variant	161/5861	161/3672	54/1223	R/L	cGa/cTa	rs149978531	1		1	ATP8B2	HGNC	HGNC:13534	protein_coding	YES	CCDS1066.1	ENSP00000357475	P98198		UPI00001B92AB	NM_020452.3	deleterious(0)		3/28		Pfam_domain:PF16209,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF46,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs149978531	.												T	3	4	57	154330426	154330426	G	T	1	0	0	0	0	1	0	0	0	1348	1058	37	1		1	ATP8B2	1	154330426	Missense_Mutation	SNP	G	C3N-00560_TP	7422	154330426	94625996	68	18007											
PKLR	0	.	GRCh38	chr1	155294279	155294279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgccaagttgcagcgccCaatcatcatcttctgagcca	9	8	8	16	2	4	1	2	1	2	0	4	1	4	1	4	0	3	2	4	0	2	2			C3N-00560_TP	C3N-00560_NB	C	C																c.1072G>T	p.Gly358Trp	p.G358W	ENST00000342741	7/11	706	483	223	620	619	1	strelka-varscan-mutect	PKLR,missense_variant,p.Gly327Trp,ENST00000392414,NM_181871.3;PKLR,missense_variant,p.Gly358Trp,ENST00000342741,NM_000298.5;HCN3,downstream_gene_variant,,ENST00000368358,NM_020897.2;HCN3,downstream_gene_variant,,ENST00000496230,;HCN3,downstream_gene_variant,,ENST00000492035,;PKLR,downstream_gene_variant,,ENST00000434082,;	A	ENST00000342741	Transcript	missense_variant	1111/2083	1072/1725	358/574	G/W	Ggg/Tgg	CM090466	1		-1	PKLR	HGNC	HGNC:9020	protein_coding	YES	CCDS1109.1	ENSP00000339933	P30613		UPI0000001292	NM_000298.5	deleterious(0)		7/11		hmmpanther:PTHR11817,hmmpanther:PTHR11817:SF31,TIGRFAM_domain:TIGR01064,Pfam_domain:PF00224,Gene3D:3.20.20.60,Superfamily_domains:SSF51621,Prints_domain:PR01050																	MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	57	155294279	155294279	C	A	1	0	0	0	0	1	0	0	0	12072	594	21	2		2	PKLR	1	155294279	Missense_Mutation	SNP	C	C3N-00560_TP	963853	155294279	93662143	69	18008											
INSRR	0	.	GRCh38	chr1	156841045	156841045	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtatgctgtccagaatgTgtgtgaaagatgggcgcagg	9	10	15	7	1	0	3	0	1	0	2	1	3	1	3	2	2	1	3	2	2	3	1	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.3722A>G	p.His1241Arg	p.H1241R	ENST00000368195	22/22	461	316	145	429	429	0	strelka-varscan-mutect	INSRR,missense_variant,p.His1241Arg,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;	C	ENST00000368195	Transcript	missense_variant	4119/5101	3722/3894	1241/1297	H/R	cAc/cGc		1		-1	INSRR	HGNC	HGNC:6093	protein_coding	YES	CCDS1160.1	ENSP00000357178	P14616		UPI000012D8BD	NM_014215.2	deleterious(0.01)		22/22		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF338,PIRSF_domain:PIRSF000620,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	57	156841045	156841045	T	C	1	0	0	0	0	1	0	0	0	7676	1696	59	5		5	INSRR	1	156841045	Missense_Mutation	SNP	T	C3N-00560_TP	1546766	156841045	92115377	70	18009											
ETV3L	0	.	GRCh38	chr1	157098754	157098754	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctggccgacacagggcaggGgcccccagcagcaagtgggg	8	2	18	13	1	0	0	0	0	0	0	0	1	0	0	3	6	2	4	3	6	1	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.438C>T	p.=	p.A146A	ENST00000454449	3/5	86	75	11	73	73	0	strelka-varscan-mutect	ETV3L,synonymous_variant,p.=,ENST00000454449,NM_001004341.2;	A	ENST00000454449	Transcript	synonymous_variant	723/1976	438/1086	146/361	A	gcC/gcT		1		-1	ETV3L	HGNC	HGNC:33834	protein_coding	YES	CCDS30893.1	ENSP00000430271	Q6ZN32		UPI000035E7AE	NM_001004341.2			3/5		hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF30																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	57	157098754	157098754	G	A	1	0	0	0	0	0	0	0	1	5144	1219	43	3		3	ETV3L	1	157098754	Silent	SNP	G	C3N-00560_TP	257709	157098754	91857668	71	18010											
FCRL4	0	.	GRCh38	chr1	157587353	157587353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcaccacaccaataggatCctgagttttctctccagacg	11	9	7	14	1	1	2	0	1	1	1	4	3	3	3	4	1	1	2	4	1	2	3			C3N-00560_TP	C3N-00560_NB	C	C																c.770G>T	p.Gly257Val	p.G257V	ENST00000271532	5/12	352	232	120	311	311	0	strelka-varscan-mutect	FCRL4,missense_variant,p.Gly257Val,ENST00000271532,NM_031282.2;FCRL4,non_coding_transcript_exon_variant,,ENST00000448509,;	A	ENST00000271532	Transcript	missense_variant	906/3459	770/1548	257/515	G/V	gGa/gTa	COSM3475750	1		-1	FCRL4	HGNC	HGNC:18507	protein_coding	YES	CCDS1166.1	ENSP00000271532	Q96PJ5		UPI000006E26B	NM_031282.2	deleterious(0)		5/12		PROSITE_profiles:PS50835,hmmpanther:PTHR11481:SF59,hmmpanther:PTHR11481,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	57	157587353	157587353	C	A	1	0	0	0	0	1	0	0	0	5659	855	30	2		2	FCRL4	1	157587353	Missense_Mutation	SNP	C	C3N-00560_TP	488599	157587353	91369069	72	18011											
KIRREL	0	.	GRCh38	chr1	158089529	158089529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaacagcaaccagctgctgCtgaagtcggtgactcaggca	11	7	12	11	1	1	2	1	2	0	0	2	2	1	2	1	2	6	6	1	2	3	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1072C>A	p.Leu358Met	p.L358M	ENST00000359209	9/15	203	136	67	184	184	0	strelka-varscan-mutect	KIRREL,missense_variant,p.Leu258Met,ENST00000368173,NM_001286349.1;KIRREL,missense_variant,p.Leu172Met,ENST00000368172,;KIRREL,missense_variant,p.Leu194Met,ENST00000360089,;KIRREL,missense_variant,p.Leu358Met,ENST00000359209,NM_018240.6;	A	ENST00000359209	Transcript	missense_variant	1139/2874	1072/2274	358/757	L/M	Ctg/Atg		1		1	KIRREL	HGNC	HGNC:15734	protein_coding	YES	CCDS1172.2	ENSP00000352138	Q96J84		UPI0000443FBD	NM_018240.6	deleterious(0)		9/15		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF14,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	158089529	158089529	C	A	1	0	0	0	0	1	0	0	0	8188	796	28	2		2	KIRREL	1	158089529	Missense_Mutation	SNP	C	C3N-00560_TP	502176	158089529	90866893	73	18012											
OR10Z1	0	.	GRCh38	chr1	158606942	158606942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttattttccacctctcattCtgcagctcccatgaaatcca	9	14	4	14	0	2	1	1	1	2	0	6	1	5	1	4	0	2	3	4	0	2	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.504C>A	p.Phe168Leu	p.F168L	ENST00000361284	1/1	407	300	107	372	372	0	strelka-varscan-mutect	OR10Z1,missense_variant,p.Phe168Leu,ENST00000361284,NM_001004478.1;SPTA1,downstream_gene_variant,,ENST00000368147,NM_003126.2;SPTA1,downstream_gene_variant,,ENST00000485680,;	A	ENST00000361284	Transcript	missense_variant	504/942	504/942	168/313	F/L	ttC/ttA		1		1	OR10Z1	HGNC	HGNC:14996	protein_coding	YES	CCDS30901.1	ENSP00000354707	Q8NGY1	A0A126GV63	UPI000004CA23	NM_001004478.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs901144945	.												A	3	1	57	158606942	158606942	C	A	1	0	0	0	0	1	0	0	0	10999	912	32	2		2	OR10Z1	1	158606942	Missense_Mutation	SNP	C	C3N-00560_TP	517413	158606942	90349480	74	18013											
SPTA1	0	.	GRCh38	chr1	158613855	158613855	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaggcgccctgtcaaattCtcatcaaagtgtctaaagga	12	10	9	10	1	5	0	4	0	2	0	6	1	5	1	1	2	0	0	1	2	4	2	rs371341474		C3N-00560_TP	C3N-00560_NB	C	C																c.6855G>C	p.Glu2285Asp	p.E2285D	ENST00000368147	50/52	370	262	108	339	339	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Glu2285Asp,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000485680,;SPTA1,non_coding_transcript_exon_variant,,ENST00000481212,;SPTA1,non_coding_transcript_exon_variant,,ENST00000498708,;SPTA1,downstream_gene_variant,,ENST00000492934,;	G	ENST00000368147	Transcript	missense_variant	7036/7999	6855/7260	2285/2419	E/D	gaG/gaC	rs371341474	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0.03)		50/52		PROSITE_profiles:PS50222,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		rs371341474	.												G	3	3	57	158613855	158613855	C	G	1	0	0	0	0	1	0	0	0	15472	912	32	4		4	SPTA1	1	158613855	Missense_Mutation	SNP	C	C3N-00560_TP	6913	158613855	90342567	75	18014											
SPTA1	0	.	GRCh38	chr1	158620334	158620334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccaagaagtcctcatGgtctttctgcagctgccgaa	9	9	12	11	1	3	1	1	0	2	1	4	3	4	2	3	3	3	2	3	3	3	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.6253C>T	p.His2085Tyr	p.H2085Y	ENST00000368147	44/52	410	297	113	369	369	0	strelka-varscan-mutect	SPTA1,missense_variant,p.His2085Tyr,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000484520,;SPTA1,downstream_gene_variant,,ENST00000461624,;SPTA1,upstream_gene_variant,,ENST00000492934,;SPTA1,upstream_gene_variant,,ENST00000498708,;	A	ENST00000368147	Transcript	missense_variant	6434/7999	6253/7260	2085/2419	H/Y	Cat/Tat		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0)		44/52		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	158620334	158620334	G	A	1	0	0	0	0	1	0	0	0	15472	1348	47	3		3	SPTA1	1	158620334	Missense_Mutation	SNP	G	C3N-00560_TP	6479	158620334	90336088	76	18015											
SPTA1	0	.	GRCh38	chr1	158620428	158620428	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaccagttgttcaaagcTgaagccttatgtgcaaattc	12	12	7	10	0	2	1	2	1	0	0	3	1	2	1	2	0	3	4	2	0	4	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.6159A>T	p.=	p.S2053S	ENST00000368147	44/52	214	145	69	183	183	0	strelka-varscan-mutect	SPTA1,synonymous_variant,p.=,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000484520,;SPTA1,downstream_gene_variant,,ENST00000461624,;SPTA1,upstream_gene_variant,,ENST00000492934,;SPTA1,upstream_gene_variant,,ENST00000498708,;	A	ENST00000368147	Transcript	synonymous_variant	6340/7999	6159/7260	2053/2419	S	tcA/tcT		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2			44/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	158620428	158620428	T	A	1	0	0	0	0	0	0	0	1	15472	1567	55	4		4	SPTA1	1	158620428	Silent	SNP	T	C3N-00560_TP	94	158620428	90335994	77	18016											
SPTA1	0	.	GRCh38	chr1	158634653	158634653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaattgcaagtattctaGggattcttccaacttaagtc	12	14	7	8	0	2	1	0	1	2	0	4	2	3	2	1	1	2	2	1	1	6	7	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.5455C>A	p.Leu1819Ile	p.L1819I	ENST00000368147	39/52	501	355	146	388	388	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Leu1819Ile,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000461624,;SPTA1,downstream_gene_variant,,ENST00000465741,;	T	ENST00000368147	Transcript	missense_variant	5636/7999	5455/7260	1819/2419	L/I	Cta/Ata		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0.01)		39/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Gene3D:1.20.58.60,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		rs960614315	.												T	3	4	57	158634653	158634653	G	T	1	0	0	0	0	1	0	0	0	15472	991	35	2		2	SPTA1	1	158634653	Missense_Mutation	SNP	G	C3N-00560_TP	14225	158634653	90321769	78	18017											
SPTA1	0	.	GRCh38	chr1	158648520	158648520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctcaccttatctcccaGgggtacgaggtccctttcaa	7	13	8	13	1	3	0	2	0	2	0	6	1	4	0	3	3	1	1	3	3	3	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3703C>G	p.Leu1235Val	p.L1235V	ENST00000368147	26/52	408	283	125	421	421	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Leu1235Val,ENST00000368147,NM_003126.2;	C	ENST00000368147	Transcript	missense_variant	3884/7999	3703/7260	1235/2419	L/V	Ctg/Gtg		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0.02)		26/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150																	MODERATE	1	SNV	1			1										PASS		rs1345925946	.												C	3	2	57	158648520	158648520	G	C	1	0	0	0	0	1	0	0	0	15472	991	35	4		4	SPTA1	1	158648520	Missense_Mutation	SNP	G	C3N-00560_TP	13867	158648520	90307902	79	18018											
SPTA1	0	.	GRCh38	chr1	158674639	158674639	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctcgttcatccagccTgagagttcatcaaagtcaga	10	12	8	11	1	6	2	4	1	2	2	8	3	7	2	2	0	1	2	2	0	1	3			C3N-00560_TP	C3N-00560_NB	T	T																c.1149A>T	p.=	p.S383S	ENST00000368147	9/52	696	497	199	610	610	0	strelka-varscan-mutect	SPTA1,synonymous_variant,p.=,ENST00000368147,NM_003126.2;SPTA1,downstream_gene_variant,,ENST00000467387,;	A	ENST00000368147	Transcript	synonymous_variant	1330/7999	1149/7260	383/2419	S	tcA/tcT	COSM1986711	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2			9/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	57	158674639	158674639	T	A	1	0	0	0	0	0	0	0	1	15472	1567	55	4		4	SPTA1	1	158674639	Silent	SNP	T	C3N-00560_TP	26119	158674639	90281783	80	18019											
PYHIN1	0	.	GRCh38	chr1	158936948	158936948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaaattgttctactgaaagGattagaggtcatcaatgatt	15	13	9	4	0	3	3	2	2	1	1	3	5	3	4	0	2	1	1	0	2	6	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.38G>T	p.Gly13Val	p.G13V	ENST00000368140	2/9	52	38	14	51	51	0	strelka-varscan-mutect	PYHIN1,missense_variant,p.Gly13Val,ENST00000368140,NM_152501.4;PYHIN1,missense_variant,p.Gly13Val,ENST00000368138,NM_198928.4;PYHIN1,missense_variant,p.Gly13Val,ENST00000368135,;PYHIN1,missense_variant,p.Gly13Val,ENST00000392254,NM_198929.4;PYHIN1,missense_variant,p.Gly13Val,ENST00000392252,NM_198930.3;PYHIN1,missense_variant,p.Gly13Val,ENST00000458222,;	T	ENST00000368140	Transcript	missense_variant	283/2083	38/1479	13/492	G/V	gGa/gTa		1		1	PYHIN1	HGNC	HGNC:28894	protein_coding	YES	CCDS1178.1	ENSP00000357122	Q6K0P9		UPI0000225618	NM_152501.4	deleterious(0)		2/9		Pfam_domain:PF02758,PROSITE_profiles:PS50824,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF14,SMART_domains:SM01289																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	158936948	158936948	G	T	1	0	0	0	0	1	0	0	0	13019	1174	41	2		2	PYHIN1	1	158936948	Missense_Mutation	SNP	G	C3N-00560_TP	262309	158936948	90019474	81	18020											
FCRL6	0	.	GRCh38	chr1	159809463	159809463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaccctgctgtgggggaCatggtgcagctcctctgtga	5	10	15	11	0	1	2	0	2	1	0	2	3	2	3	2	3	3	4	2	3	0	0	rs557324156		C3N-00560_TP	C3N-00560_NB	C	C																c.666C>A	p.Asp222Glu	p.D222E	ENST00000368106	5/10	155	96	59	118	118	0	strelka-varscan-mutect	FCRL6,missense_variant,p.Asp229Glu,ENST00000321935,NM_001284217.1;FCRL6,missense_variant,p.Asp222Glu,ENST00000339348,;FCRL6,missense_variant,p.Asp222Glu,ENST00000368106,NM_001004310.2;FCRL6,missense_variant,p.Asp127Glu,ENST00000392235,;FCRL6,downstream_gene_variant,,ENST00000536257,;FCRL6,downstream_gene_variant,,ENST00000540741,;FCRL6,downstream_gene_variant,,ENST00000541729,;	A	ENST00000368106	Transcript	missense_variant	667/1306	666/1305	222/434	D/E	gaC/gaA	rs557324156	1		1	FCRL6	HGNC	HGNC:31910	protein_coding	YES	CCDS30912.1	ENSP00000357086	Q6DN72		UPI0000D62020	NM_001004310.2	tolerated(0.14)		5/10		PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF62,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs557324156	.												A	3	1	57	159809463	159809463	C	A	1	0	0	0	0	1	0	0	0	5661	477	17	2		2	FCRL6	1	159809463	Missense_Mutation	SNP	C	C3N-00560_TP	872515	159809463	89146959	82	18021											
ATP1A4	0	.	GRCh38	chr1	160177585	160177585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagaatggttttaggcCtgttgatctgctgggcatcc	6	13	14	8	0	1	2	0	2	1	1	2	3	2	2	2	4	1	5	2	4	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2657C>A	p.Pro886His	p.P886H	ENST00000368081	18/22	164	128	36	153	152	1	strelka-varscan-mutect	ATP1A4,missense_variant,p.Pro886His,ENST00000368081,NM_144699.3;ATP1A4,missense_variant,p.Pro22His,ENST00000470705,NM_001001734.1;ATP1A4,non_coding_transcript_exon_variant,,ENST00000418334,;ATP1A4,non_coding_transcript_exon_variant,,ENST00000466526,;ATP1A4,3_prime_UTR_variant,,ENST00000477338,;ATP1A4,non_coding_transcript_exon_variant,,ENST00000469023,;	A	ENST00000368081	Transcript	missense_variant	3128/3839	2657/3090	886/1029	P/H	cCt/cAt		1		1	ATP1A4	HGNC	HGNC:14073	protein_coding	YES	CCDS1197.1	ENSP00000357060	Q13733		UPI0000124FC5	NM_144699.3	deleterious(0)		18/22		Superfamily_domains:0049473,Gene3D:1.20.1110.10,Pfam_domain:PF00689,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF309,TIGRFAM_domain:TIGR01106																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	160177585	160177585	C	A	1	0	0	0	0	1	0	0	0	1283	681	24	2		2	ATP1A4	1	160177585	Missense_Mutation	SNP	C	C3N-00560_TP	368122	160177585	88778837	83	18022											
VANGL2	0	.	GRCh38	chr1	160420540	160420540	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcaaggtgtattccctCggagagggtgagcagccctg	7	9	15	10	1	1	2	1	1	0	1	3	3	2	2	2	4	2	3	2	4	2	3	rs781182828		C3N-00560_TP	C3N-00560_NB	C	C																c.930C>A	p.=	p.L310L	ENST00000368061	5/8	365	243	122	301	300	1	strelka-varscan-mutect	VANGL2,synonymous_variant,p.=,ENST00000368061,NM_020335.2;VANGL2,intron_variant,,ENST00000483408,;	A	ENST00000368061	Transcript	synonymous_variant	1404/5340	930/1566	310/521	L	ctC/ctA	rs781182828	1		1	VANGL2	HGNC	HGNC:15511	protein_coding	YES	CCDS30915.1	ENSP00000357040	Q9ULK5		UPI00001C1D79	NM_020335.2			5/8		hmmpanther:PTHR20886,PIRSF_domain:PIRSF007991,Pfam_domain:PF06638																	LOW	1	SNV	2			1										PASS		rs781182828	.												A	2	1	57	160420540	160420540	C	A	1	0	0	0	0	0	0	0	1	17665	871	31	1		1	VANGL2	1	160420540	Silent	SNP	C	C3N-00560_TP	242955	160420540	88535882	84	18023											
NECTIN4	0	.	GRCh38	chr1	161077539	161077539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtggctgcccattcatgCtgcggctaggcaccaagtgg	7	9	13	12	1	2	0	2	0	0	0	2	0	2	0	2	4	3	4	2	4	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.644G>T	p.Ser215Ile	p.S215I	ENST00000368012	3/9	482	320	162	368	368	0	strelka-varscan-mutect	NECTIN4,missense_variant,p.Ser215Ile,ENST00000368012,NM_030916.2;NECTIN4,upstream_gene_variant,,ENST00000486694,;	A	ENST00000368012	Transcript	missense_variant	947/3502	644/1533	215/510	S/I	aGc/aTc		1		-1	NECTIN4	HGNC	HGNC:19688	protein_coding	YES	CCDS1216.1	ENSP00000356991	Q96NY8	K4PZ75	UPI000006F072	NM_030916.2	deleterious(0.01)		3/9		PROSITE_profiles:PS50835,hmmpanther:PTHR23277:SF11,hmmpanther:PTHR23277,Gene3D:2.60.40.10,Pfam_domain:PF08205,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1266573212	.												A	3	1	57	161077539	161077539	C	A	1	0	0	0	0	1	0	0	0	10336	797	28	2		2	NECTIN4	1	161077539	Missense_Mutation	SNP	C	C3N-00560_TP	656999	161077539	87878883	85	18024											
OLFML2B	0	.	GRCh38	chr1	162000147	162000147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattctcttcttcagagacCttggctttatagtaggtgat	8	17	8	8	0	4	2	2	1	2	1	5	3	4	2	1	2	0	2	1	2	3	8			C3N-00560_TP	C3N-00560_NB	C	C																c.918G>T	p.Lys306Asn	p.K306N	ENST00000367940	5/8	74	56	18	78	78	0	strelka-varscan-mutect	OLFML2B,missense_variant,p.Lys305Asn,ENST00000294794,NM_015441.2;OLFML2B,missense_variant,p.Lys306Asn,ENST00000367940,NM_001297713.1;	A	ENST00000367940	Transcript	missense_variant	1128/2685	918/2256	306/751	K/N	aaG/aaT	COSM283483	1		-1	OLFML2B	HGNC	HGNC:24558	protein_coding	YES	CCDS72966.1	ENSP00000356917		F2Z3N3	UPI0001AE79B2	NM_001297713.1	tolerated(0.22)		5/8		hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37,Coiled-coils_(Ncoils):Coil											1						MODERATE	1	SNV	2		1	1										PASS		rs1452651565	.												A	3	1	57	162000147	162000147	C	A	1	0	0	0	0	1	0	0	0	10933	680	24	2		2	OLFML2B	1	162000147	Missense_Mutation	SNP	C	C3N-00560_TP	922608	162000147	86956275	86	18025											
LMX1A	0	.	GRCh38	chr1	165249599	165249599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataacaaactcattgggaGcgatggcctcgaagcagccc	12	6	11	12	2	1	0	1	0	0	0	2	3	1	1	2	2	5	2	2	2	3	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.305C>T	p.Ala102Val	p.A102V	ENST00000342310	4/9	327	238	89	257	257	0	strelka-varscan-mutect	LMX1A,missense_variant,p.Ala102Val,ENST00000342310,NM_177398.3;LMX1A,missense_variant,p.Ala102Val,ENST00000294816,NM_001174069.1;LMX1A,missense_variant,p.Ala102Val,ENST00000367893,;	A	ENST00000342310	Transcript	missense_variant	688/3545	305/1149	102/382	A/V	gCt/gTt		1		-1	LMX1A	HGNC	HGNC:6653	protein_coding	YES	CCDS1247.1	ENSP00000340226	Q8TE12		UPI000012E793	NM_177398.3	deleterious(0.02)		4/9		PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF88,PROSITE_patterns:PS00478,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	165249599	165249599	G	A	1	0	0	0	0	1	0	0	0	8788	971	34	3		3	LMX1A	1	165249599	Missense_Mutation	SNP	G	C3N-00560_TP	3249452	165249599	83706823	87	18026											
POGK	0	.	GRCh38	chr1	166846708	166846708	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctaccgggaagtcatgAggatgaattatgaaactgtc	12	10	10	9	1	2	3	1	3	1	0	3	5	2	5	2	2	2	0	2	2	5	2	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.229A>G	p.Arg77Gly	p.R77G	ENST00000367875	3/5	239	180	59	194	194	0	strelka-varscan-mutect	POGK,missense_variant,p.Arg77Gly,ENST00000367875,;POGK,missense_variant,p.Arg77Gly,ENST00000367876,NM_001314014.1,NM_017542.3;POGK,missense_variant,p.Arg77Gly,ENST00000449930,;	G	ENST00000367875	Transcript	missense_variant	589/6254	229/1830	77/609	R/G	Agg/Ggg		1		1	POGK	HGNC	HGNC:18800	protein_coding	YES	CCDS1254.1	ENSP00000356849	Q9P215	A0A024R8Y1	UPI0000167816		deleterious_low_confidence(0)		3/5		PROSITE_profiles:PS50805,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	57	166846708	166846708	A	G	1	0	0	0	0	1	0	0	0	12294	295	11	5		5	POGK	1	166846708	Missense_Mutation	SNP	A	C3N-00560_TP	1597109	166846708	82109714	88	18027											
ILDR2	0	.	GRCh38	chr1	166920912	166920912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtagtaggaggcgctgcgcGggccgagctgcgcgctccgc	4	5	18	14	8	0	0	0	0	0	0	1	2	1	1	2	3	3	5	2	3	2	2	rs369124503		C3N-00560_TP	C3N-00560_NB	G	G																c.1679C>A	p.Pro560Gln	p.P560Q	ENST00000271417	9/10	140	91	49	76	76	0	strelka-varscan-mutect	ILDR2,missense_variant,p.Pro560Gln,ENST00000271417,NM_199351.2;ILDR2,missense_variant,p.Pro541Gln,ENST00000529071,;ILDR2,missense_variant,p.Pro501Gln,ENST00000528703,;ILDR2,missense_variant,p.Pro452Gln,ENST00000526687,;ILDR2,missense_variant,p.Pro433Gln,ENST00000525740,;ILDR2,intron_variant,,ENST00000469934,;ILDR2,intron_variant,,ENST00000529387,;ILDR2,upstream_gene_variant,,ENST00000614979,;	T	ENST00000271417	Transcript	missense_variant	1735/13140	1679/1920	560/639	P/Q	cCg/cAg	rs369124503	1		-1	ILDR2	HGNC	HGNC:18131	protein_coding	YES	CCDS1256.1	ENSP00000271417	Q71H61		UPI00002317DF	NM_199351.2	tolerated(0.61)		9/10		hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0																	MODERATE	1	SNV	1			1										PASS		rs369124503	.												T	3	4	57	166920912	166920912	G	T	1	0	0	0	0	1	0	0	0	7613	1116	39	1		1	ILDR2	1	166920912	Missense_Mutation	SNP	G	C3N-00560_TP	74204	166920912	82035510	89	18028											
ILDR2	0	.	GRCh38	chr1	166921138	166921138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatcggtcaggggctcgcGgctgcggctgcgctgaccgt	4	7	17	13	6	1	1	1	1	0	0	3	1	1	1	1	5	3	5	1	5	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1453C>A	p.Arg485Ser	p.R485S	ENST00000271417	9/10	159	113	46	115	115	0	strelka-varscan-mutect	ILDR2,missense_variant,p.Arg485Ser,ENST00000271417,NM_199351.2;ILDR2,missense_variant,p.Arg466Ser,ENST00000529071,;ILDR2,missense_variant,p.Arg426Ser,ENST00000528703,;ILDR2,missense_variant,p.Arg377Ser,ENST00000526687,;ILDR2,missense_variant,p.Arg358Ser,ENST00000525740,;ILDR2,intron_variant,,ENST00000469934,;ILDR2,intron_variant,,ENST00000529387,;ILDR2,upstream_gene_variant,,ENST00000614979,;	T	ENST00000271417	Transcript	missense_variant	1509/13140	1453/1920	485/639	R/S	Cgc/Agc		1		-1	ILDR2	HGNC	HGNC:18131	protein_coding	YES	CCDS1256.1	ENSP00000271417	Q71H61		UPI00002317DF	NM_199351.2	deleterious(0.02)		9/10		hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0																	MODERATE	1	SNV	1			1										PASS		rs931752264	.												T	3	4	57	166921138	166921138	G	T	1	0	0	0	0	1	0	0	0	7613	1116	39	1		1	ILDR2	1	166921138	Missense_Mutation	SNP	G	C3N-00560_TP	226	166921138	82035284	90	18029											
F5	0	.	GRCh38	chr1	169560704	169560704	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattcataggtgtattctcGgcctggagccacagcgtcgt	7	11	11	12	3	2	0	1	0	1	0	4	1	2	1	3	3	2	1	3	3	2	4	rs767477438		C3N-00560_TP	C3N-00560_NB	G	G																c.436C>A	p.=	p.R146R	ENST00000367797	4/25	456	340	116	362	361	1	strelka-varscan-mutect	F5,synonymous_variant,p.=,ENST00000367796,;F5,synonymous_variant,p.=,ENST00000367797,NM_000130.4;	T	ENST00000367797	Transcript	synonymous_variant	638/7024	436/6675	146/2224	R	Cga/Aga	rs767477438,COSM2073645	1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4			4/25		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,PIRSF_domain:PIRSF000354,Gene3D:2.60.40.420,Pfam_domain:PF07732,Superfamily_domains:SSF49503											0,1						LOW	1	SNV	1		0,1	1										PASS		rs767477438	.												T	2	4	57	169560704	169560704	G	T	1	0	0	0	0	0	0	0	1	5216	1124	39	1		1	F5	1	169560704	Silent	SNP	G	C3N-00560_TP	2639566	169560704	79395718	91	18030											
C1orf105	0	.	GRCh38	chr1	172456414	172456414	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctctctttcccctcaGgccaggaggaaccagtgtga	7	11	10	13	0	4	1	1	1	3	0	6	3	5	3	4	3	1	0	4	3	1	1			C3N-00560_TP	C3N-00560_NB	G	G																c.199-1G>C		p.X67_splice	ENST00000367727		112	79	33	92	92	0	strelka-varscan-mutect	C1orf105,splice_acceptor_variant,,ENST00000367727,NM_139240.3;C1orf105,splice_acceptor_variant,,ENST00000367725,NM_001300760.1;C1orf105,splice_acceptor_variant,,ENST00000488100,;C1orf105,intron_variant,,ENST00000367726,;	C	ENST00000367727	Transcript	splice_acceptor_variant	-/985	199/552	67/183			COSM530513	1		1	C1orf105	HGNC	HGNC:29591	protein_coding	YES	CCDS1301.1	ENSP00000356700	O95561		UPI000006D456	NM_139240.3				3/6												1						HIGH	1	SNV	1		1	1										PASS		.	.												C	5	2	57	172456414	172456414	G	C	1	0	0	0	0	0	0	1	0	1955	1014	35	4		4	C1orf105	1	172456414	Splice_Site	SNP	G	C3N-00560_TP	2895710	172456414	76500008	92	18031											
SUCO	0	.	GRCh38	chr1	172589444	172589444	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaacagaacaaaagtcTgagagctttagttctataga	18	10	8	5	0	2	4	0	2	2	3	2	5	2	4	0	0	3	2	0	0	8	5	rs774045411		C3N-00560_TP	C3N-00560_NB	T	T																c.2796T>G	p.=	p.S932S	ENST00000367723	17/23	69	64	5	84	84	0	varscan-mutect	SUCO,synonymous_variant,p.=,ENST00000367723,NM_016227.3;SUCO,synonymous_variant,p.=,ENST00000608151,;SUCO,synonymous_variant,p.=,ENST00000263688,NM_014283.4;SUCO,synonymous_variant,p.=,ENST00000616058,NM_001282751.1;SUCO,intron_variant,,ENST00000610051,NM_001282750.1;	G	ENST00000367723	Transcript	synonymous_variant	2920/5916	2796/4218	932/1405	S	tcT/tcG	rs774045411	1		1	SUCO	HGNC	HGNC:1240	protein_coding	YES	CCDS65726.1	ENSP00000356696	Q9UBS9	A0A024R929	UPI0000EE3C11	NM_016227.3			17/23		hmmpanther:PTHR12953:SF0,hmmpanther:PTHR12953																	LOW	1	SNV	1			1										PASS		rs774045411	.												G	2	3	57	172589444	172589444	T	G	1	0	0	0	0	0	0	0	1	15751	1567	55	5		5	SUCO	1	172589444	Silent	SNP	T	C3N-00560_TP	133030	172589444	76366978	93	18032											
FASLG	0	.	GRCh38	chr1	172659373	172659373	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccaccactaccacctccgCcgccgccgccaccactgcct	6	4	6	25	5	0	0	0	0	0	0	1	0	1	0	11	0	2	0	11	0	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.172C>A	p.Pro58Thr	p.P58T	ENST00000367721	1/4	439	303	136	410	410	0	strelka-varscan-mutect	FASLG,missense_variant,p.Pro58Thr,ENST00000367721,NM_000639.2;FASLG,missense_variant,p.Pro58Thr,ENST00000340030,NM_001302746.1;	A	ENST00000367721	Transcript	missense_variant	356/1888	172/846	58/281	P/T	Ccg/Acg		1		1	FASLG	HGNC	HGNC:11936	protein_coding	YES	CCDS1304.1	ENSP00000356694	P48023	Q53ZZ1	UPI000000D91A	NM_000639.2	tolerated(0.09)		1/4		hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF33,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	172659373	172659373	C	A	1	0	0	0	0	1	0	0	0	5542	739	26	2		2	FASLG	1	172659373	Missense_Mutation	SNP	C	C3N-00560_TP	69929	172659373	76297049	94	18033											
RFWD2	0	.	GRCh38	chr1	176027613	176027613	+	Frame_Shift_Del	DEL	A	A	-																															ggtatctggaagaggggctgAatttaacacagcacacatta																								novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1688delT	p.Phe563SerfsTer46	p.F563Sfs*46	ENST00000367669	15/20	250	176	74	228	228	0	sindel-varindel-pindel	RFWD2,frameshift_variant,p.Phe563SerfsTer46,ENST00000367669,NM_022457.6,NM_001286644.1;RFWD2,frameshift_variant,p.Phe539SerfsTer46,ENST00000308769,NM_001001740.3;RFWD2,frameshift_variant,p.Phe398SerfsTer46,ENST00000367666,;RFWD2,3_prime_UTR_variant,,ENST00000367667,;RFWD2,non_coding_transcript_exon_variant,,ENST00000461830,;	-	ENST00000367669	Transcript	frameshift_variant	2203/3033	1688/2196	563/731	F/X	tTc/tc		1		-1	RFWD2	HGNC	HGNC:17440	protein_coding	YES	CCDS30944.1	ENSP00000356641	Q8NHY2		UPI0000061E51	NM_022457.6,NM_001286644.1			15/20		PROSITE_profiles:PS50294,hmmpanther:PTHR22847:SF451,hmmpanther:PTHR22847,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	57	176027613	176027613	A	-	1	0	1	0	1	0	0	0	0	13434	246	9	0		0	RFWD2	1	176027613	Frame_Shift_Del	DEL	A	C3N-00560_TP	3368240	176027613	72928809	95	18034											
TDRD5	0	.	GRCh38	chr1	179639916	179639916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccgggacatctctgttGtgtaaggatttctgaggata	9	13	12	7	1	3	1	1	1	2	0	4	4	3	4	1	3	1	2	1	3	2	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1598G>T	p.Cys533Phe	p.C533F	ENST00000444136	10/18	415	291	124	353	353	0	strelka-varscan-mutect	TDRD5,missense_variant,p.Cys533Phe,ENST00000444136,NM_001199085.1,NM_001199089.1;TDRD5,missense_variant,p.Cys533Phe,ENST00000367614,NM_001199091.1;TDRD5,missense_variant,p.Cys533Phe,ENST00000294848,NM_173533.3;TDRD5,upstream_gene_variant,,ENST00000417329,;	T	ENST00000444136	Transcript	missense_variant	2116/3946	1598/3108	533/1035	C/F	tGt/tTt		1		1	TDRD5	HGNC	HGNC:20614	protein_coding	YES	CCDS55663.1	ENSP00000406052	Q8NAT2		UPI000022AC96	NM_001199085.1,NM_001199089.1	deleterious(0)		10/18		Gene3D:2.30.30.140,Pfam_domain:PF00567,PROSITE_profiles:PS50304,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF19,SMART_domains:SM00333,Superfamily_domains:SSF63748																	MODERATE	1	SNV	1			1										PASS		rs1273506634	.												T	3	4	57	179639916	179639916	G	T	1	0	0	0	0	1	0	0	0	16143	1377	48	2		2	TDRD5	1	179639916	Missense_Mutation	SNP	G	C3N-00560_TP	3612303	179639916	69316506	96	18035											
SHCBP1L	0	.	GRCh38	chr1	182952949	182952949	+	Frame_Shift_Del	DEL	C	C	-																															gcagcctggccgtctcccggCccgctttccccttcaccggg																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.185delG	p.Gly62AlafsTer53	p.G62Afs*53	ENST00000367547	1/10	229	168	61	185	185	0	sindel-varindel-pindel	SHCBP1L,frameshift_variant,p.Gly62AlafsTer53,ENST00000367547,NM_030933.2;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000488956,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000483655,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000497549,;SHCBP1L,upstream_gene_variant,,ENST00000467208,;RP11-505O17.1,downstream_gene_variant,,ENST00000418657,;	-	ENST00000367547	Transcript	frameshift_variant	422/2317	185/1962	62/653	G/X	gGc/gc		1		-1	SHCBP1L	HGNC	HGNC:16788	protein_coding	YES	CCDS30955.1	ENSP00000356518	Q9BZQ2		UPI000006F7B9	NM_030933.2			1/10		hmmpanther:PTHR14695,hmmpanther:PTHR14695:SF7																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	57	182952949	182952949	C	-	1	0	1	0	1	0	0	0	0	14534	739	26	0		0	SHCBP1L	1	182952949	Frame_Shift_Del	DEL	C	C3N-00560_TP	3313033	182952949	66003473	97	18036											
NMNAT2	0	.	GRCh38	chr1	183290199	183290199	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcctggtagcactcccaagGgtccaccctaacatcatcgg	9	8	9	15	1	1	0	1	0	0	0	5	0	4	0	4	3	2	2	4	3	3	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.250C>G	p.Pro84Ala	p.P84A	ENST00000287713	4/11	185	138	47	153	153	0	strelka-varscan-mutect	NMNAT2,missense_variant,p.Pro84Ala,ENST00000287713,NM_015039.3;NMNAT2,missense_variant,p.Pro79Ala,ENST00000294868,NM_170706.3;NMNAT2,non_coding_transcript_exon_variant,,ENST00000473046,;	C	ENST00000287713	Transcript	missense_variant	585/5663	250/924	84/307	P/A	Cct/Gct		1		-1	NMNAT2	HGNC	HGNC:16789	protein_coding	YES	CCDS1353.1	ENSP00000287713	Q9BZQ4		UPI00000706AB	NM_015039.3	deleterious(0.03)		4/11		Gene3D:3.40.50.620,Pfam_domain:PF01467,hmmpanther:PTHR12039,hmmpanther:PTHR12039:SF2,Superfamily_domains:SSF52374																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	183290199	183290199	G	C	1	0	0	0	0	1	0	0	0	10538	1232	43	4		4	NMNAT2	1	183290199	Missense_Mutation	SNP	G	C3N-00560_TP	337250	183290199	65666223	98	18037											
SWT1	0	.	GRCh38	chr1	185204730	185204730	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaagagagctataaggAggaatctacaaattctggac	16	9	10	6	0	2	2	0	1	2	1	2	6	2	5	0	3	2	1	0	3	6	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1700A>G	p.Glu567Gly	p.E567G	ENST00000367500	12/19	115	88	27	169	168	1	strelka-varscan-mutect	SWT1,missense_variant,p.Glu567Gly,ENST00000367500,NM_017673.6;SWT1,missense_variant,p.Glu567Gly,ENST00000367501,NM_001105518.1;	G	ENST00000367500	Transcript	missense_variant	1865/3830	1700/2703	567/900	E/G	gAg/gGg		1		1	SWT1	HGNC	HGNC:16785	protein_coding	YES	CCDS1367.1	ENSP00000356470	Q5T5J6		UPI000013D4C5	NM_017673.6	tolerated(0.14)		12/19		hmmpanther:PTHR16161,hmmpanther:PTHR16161:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	185204730	185204730	A	G	1	0	0	0	0	1	0	0	0	15813	304	11	5		5	SWT1	1	185204730	Missense_Mutation	SNP	A	C3N-00560_TP	1914531	185204730	63751692	99	18038											
HMCN1	0	.	GRCh38	chr1	186018182	186018182	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttttgcctttttctataGgtggctgaaggatggccagt	6	16	11	8	0	1	1	0	1	1	0	2	2	2	2	3	4	1	1	3	4	3	6	rs762850788		C3N-00560_TP	C3N-00560_NB	G	G																c.5301-1G>T		p.X1767_splice	ENST00000271588		343	262	81	330	330	0	strelka-varscan-mutect	HMCN1,splice_acceptor_variant,,ENST00000271588,NM_031935.2;	T	ENST00000271588	Transcript	splice_acceptor_variant	-/18208	5301/16908	1767/5635			rs762850788	1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2				33/106																		HIGH	1	SNV	1			1										PASS		rs762850788	.												T	5	4	57	186018182	186018182	G	T	1	0	0	0	0	0	0	1	0	7111	1014	35	2		2	HMCN1	1	186018182	Splice_Site	SNP	G	C3N-00560_TP	813452	186018182	62938240	100	18039											
HMCN1	0	.	GRCh38	chr1	186055540	186055540	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaccccttgatcaaggcaaAgggagtagaaatactggatg	14	7	11	9	0	1	2	1	1	0	1	1	4	1	4	3	3	1	2	3	3	5	3	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.7010A>C	p.Lys2337Thr	p.K2337T	ENST00000271588	45/107	530	457	73	446	446	0	strelka-varscan-mutect	HMCN1,missense_variant,p.Lys2337Thr,ENST00000271588,NM_031935.2;	C	ENST00000271588	Transcript	missense_variant	7239/18208	7010/16908	2337/5635	K/T	aAg/aCg		1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2	tolerated(0.5)		45/107		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1461444446	.												C	3	2	57	186055540	186055540	A	C	1	0	0	0	0	1	0	0	0	7111	72	3	5		5	HMCN1	1	186055540	Missense_Mutation	SNP	A	C3N-00560_TP	37358	186055540	62900882	101	18040											
HMCN1	0	.	GRCh38	chr1	186125675	186125675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaagccattcttccatgcGtagctgatggaatccccaca	11	9	7	14	1	1	1	0	1	1	0	3	2	3	2	4	1	3	2	4	1	3	3	rs141096306		C3N-00560_TP	C3N-00560_NB	G	G																c.12571G>T	p.Val4191Leu	p.V4191L	ENST00000271588	82/107	210	145	65	188	188	0	strelka-varscan-mutect	HMCN1,missense_variant,p.Val4191Leu,ENST00000271588,NM_031935.2;	T	ENST00000271588	Transcript	missense_variant	12800/18208	12571/16908	4191/5635	V/L	Gta/Tta	rs141096306	1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2	tolerated(0.12)		82/107		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF678,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs141096306	.												T	3	4	57	186125675	186125675	G	T	1	0	0	0	0	1	0	0	0	7111	1145	40	1		1	HMCN1	1	186125675	Missense_Mutation	SNP	G	C3N-00560_TP	70135	186125675	62830747	102	18041											
B3GALT2	0	.	GRCh38	chr1	193180715	193180715	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgggtgcatatcctcgcAttaggtaaccagtgaaatag	12	11	11	7	1	0	1	0	1	0	0	2	2	1	1	2	2	2	3	2	2	5	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.848T>A	p.Met283Lys	p.M283K	ENST00000367434	2/2	201	131	70	161	161	0	strelka-varscan-mutect	B3GALT2,missense_variant,p.Met283Lys,ENST00000367434,NM_003783.3;CDC73,intron_variant,,ENST00000367435,NM_024529.4;CDC73,intron_variant,,ENST00000635846,;	T	ENST00000367434	Transcript	missense_variant	1604/3274	848/1269	283/422	M/K	aTg/aAg		1		-1	B3GALT2	HGNC	HGNC:917	protein_coding	YES	CCDS1383.1	ENSP00000356404	O43825		UPI0000073BFF	NM_003783.3	deleterious(0)		2/2		hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF19,Pfam_domain:PF01762																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	193180715	193180715	A	T	1	0	0	0	0	1	0	0	0	1405	217	8	4		4	B3GALT2	1	193180715	Missense_Mutation	SNP	A	C3N-00560_TP	7055040	193180715	55775707	103	18042											
CFHR2	0	.	GRCh38	chr1	196957958	196957958	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacttcattcctgttgtcAgtatatgctccaggttcatc	8	17	6	10	0	3	0	3	0	0	0	6	0	5	0	2	1	2	4	2	1	3	7	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.498A>T	p.=	p.S166S	ENST00000367415	4/5	224	160	64	199	199	0	strelka-varscan-mutect	CFHR2,synonymous_variant,p.=,ENST00000367415,NM_005666.2;RP4-608O15.3,synonymous_variant,p.=,ENST00000367421,;CFHR2,synonymous_variant,p.=,ENST00000476712,;CFHR2,non_coding_transcript_exon_variant,,ENST00000496448,;CFHR2,non_coding_transcript_exon_variant,,ENST00000473386,;	T	ENST00000367415	Transcript	synonymous_variant	598/1059	498/813	166/270	S	tcA/tcT		1		1	CFHR2	HGNC	HGNC:4890	protein_coding	YES	CCDS30959.1	ENSP00000356385	P36980		UPI000012A73B	NM_005666.2			4/5		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	196957958	196957958	A	T	1	0	0	0	0	0	0	0	1	3043	175	7	4		4	CFHR2	1	196957958	Silent	SNP	A	C3N-00560_TP	3777243	196957958	51998464	104	18043											
ASPM	0	.	GRCh38	chr1	197143072	197143072	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttatcttttaaaaattgatTaggggataaaataggattaa	17	15	8	1	0	1	1	0	1	1	0	1	3	1	3	0	3	0	1	0	3	9	8	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1180A>T	p.Asn394Tyr	p.N394Y	ENST00000367409	3/28	158	111	47	190	190	0	strelka-varscan-mutect	ASPM,missense_variant,p.Asn394Tyr,ENST00000367409,NM_018136.4;ASPM,missense_variant,p.Asn394Tyr,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000612785,;SEPT14P12,upstream_gene_variant,,ENST00000442280,;	A	ENST00000367409	Transcript	missense_variant	1437/10887	1180/10434	394/3477	N/Y	Aat/Tat		1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4	deleterious(0.01)		3/28																			MODERATE	1	SNV	1			1										PASS		rs199422138	.												A	3	1	57	197143072	197143072	T	A	1	0	0	0	0	1	0	0	0	1203	1754	61	4		4	ASPM	1	197143072	Missense_Mutation	SNP	T	C3N-00560_TP	185114	197143072	51813350	105	18044											
GPR25	0	.	GRCh38	chr1	200873560	200873560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggccggcctgccctccCtggtctaccgggggttgcag	2	9	15	15	2	1	0	0	0	1	0	2	0	2	0	5	5	4	3	5	5	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.523C>A	p.Leu175Met	p.L175M	ENST00000304244	1/1	153	102	51	94	94	0	strelka-varscan-mutect	GPR25,missense_variant,p.Leu175Met,ENST00000304244,NM_005298.3;	A	ENST00000304244	Transcript	missense_variant	606/1224	523/1086	175/361	L/M	Ctg/Atg		1		1	GPR25	HGNC	HGNC:4480	protein_coding	YES	CCDS1405.1	ENSP00000301917	O00155		UPI000013E957	NM_005298.3	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF9,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	57	200873560	200873560	C	A	1	0	0	0	0	1	0	0	0	6567	680	24	2		2	GPR25	1	200873560	Missense_Mutation	SNP	C	C3N-00560_TP	3730488	200873560	48082862	106	18045											
C1orf106	0	.	GRCh38	chr1	200907840	200907840	+	Missense_Mutation	SNP	G	G	T																															tttgtctttcgcagagctcaGtgcctctgatgacagctccc																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.527G>T	p.Ser176Ile	p.S176I	ENST00000413687	6/10	191	148	43	161	161	0	strelka-varscan-mutect	C1orf106,missense_variant,p.Ser261Ile,ENST00000367342,NM_018265.3;C1orf106,missense_variant,p.Ser176Ile,ENST00000413687,NM_001142569.2;C1orf106,non_coding_transcript_exon_variant,,ENST00000531649,;C1orf106,upstream_gene_variant,,ENST00000465162,;C1orf106,upstream_gene_variant,,ENST00000526172,;	T	ENST00000413687	Transcript	missense_variant	888/2197	527/1737	176/578	S/I	aGt/aTt		1		1	C1orf106	HGNC	HGNC:25599	protein_coding	YES	CCDS44292.1	ENSP00000392105	Q3KP66		UPI0000204714	NM_001142569.2	deleterious(0)		6/10		hmmpanther:PTHR16093,hmmpanther:PTHR16093:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	200907840	200907840	G	T	1	0	0	0	0	1	0	0	0	1956	1029	36	2		2	C1orf106	1	200907840	Missense_Mutation	SNP	G	C3N-00560_TP	34280	200907840	48048582	107	18046	385	2									
C1orf106	0	.	GRCh38	chr1	200907842	200907842	+	Missense_Mutation	SNP	G	G	A																															tgtctttcgcagagctcagtGcctctgatgacagctccctg																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.529G>A	p.Ala177Thr	p.A177T	ENST00000413687	6/10	189	147	42	158	158	0	strelka-varscan-mutect	C1orf106,missense_variant,p.Ala262Thr,ENST00000367342,NM_018265.3;C1orf106,missense_variant,p.Ala177Thr,ENST00000413687,NM_001142569.2;C1orf106,non_coding_transcript_exon_variant,,ENST00000531649,;C1orf106,upstream_gene_variant,,ENST00000465162,;C1orf106,upstream_gene_variant,,ENST00000526172,;	A	ENST00000413687	Transcript	missense_variant	890/2197	529/1737	177/578	A/T	Gcc/Acc		1		1	C1orf106	HGNC	HGNC:25599	protein_coding	YES	CCDS44292.1	ENSP00000392105	Q3KP66		UPI0000204714	NM_001142569.2	tolerated(0.05)		6/10		hmmpanther:PTHR16093,hmmpanther:PTHR16093:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	200907842	200907842	G	A	1	0	0	0	0	1	0	0	0	1956	1319	46	3		3	C1orf106	1	200907842	Missense_Mutation	SNP	G	C3N-00560_TP	2	200907842	48048580	108	18047	385	2									
KIF21B	0	.	GRCh38	chr1	200988902	200988902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccctccaacagccggatCtgggcttccttttgtgccac	5	10	10	16	2	1	0	0	0	1	0	3	1	3	1	5	3	3	1	5	3	1	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3162G>T	p.Gln1054His	p.Q1054H	ENST00000422435	22/35	106	80	26	97	97	0	strelka-varscan-mutect	KIF21B,missense_variant,p.Gln1054His,ENST00000332129,NM_017596.3;KIF21B,missense_variant,p.Gln1054His,ENST00000422435,NM_001252100.1;KIF21B,missense_variant,p.Gln1054His,ENST00000461742,NM_001252102.1;KIF21B,missense_variant,p.Gln1054His,ENST00000360529,NM_001252103.1;	A	ENST00000422435	Transcript	missense_variant	3479/5519	3162/4914	1054/1637	Q/H	caG/caT		1		-1	KIF21B	HGNC	HGNC:29442	protein_coding	YES	CCDS58056.1	ENSP00000411831	O75037		UPI0000153E7C	NM_001252100.1	deleterious(0)		22/35		hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115,Superfamily_domains:SSF46579																	MODERATE	1	SNV	1			1										PASS		rs1452561321	.												A	3	1	57	200988902	200988902	C	A	1	0	0	0	0	1	0	0	0	8154	912	32	2		2	KIF21B	1	200988902	Missense_Mutation	SNP	C	C3N-00560_TP	81060	200988902	47967520	109	18048											
KIF21B	0	.	GRCh38	chr1	201004447	201004447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgctgatcacattgccCaaggccagctgtgggagaca	11	6	13	11	1	1	2	1	1	0	1	1	3	1	2	2	3	2	2	2	3	2	1			C3N-00560_TP	C3N-00560_NB	C	C																c.909G>T	p.Leu303Phe	p.L303F	ENST00000422435	7/35	206	127	79	213	211	2	strelka-varscan-mutect	KIF21B,missense_variant,p.Leu303Phe,ENST00000332129,NM_017596.3;KIF21B,missense_variant,p.Leu303Phe,ENST00000422435,NM_001252100.1;KIF21B,missense_variant,p.Leu303Phe,ENST00000461742,NM_001252102.1;KIF21B,missense_variant,p.Leu303Phe,ENST00000360529,NM_001252103.1;KIF21B,non_coding_transcript_exon_variant,,ENST00000534043,;	A	ENST00000422435	Transcript	missense_variant	1226/5519	909/4914	303/1637	L/F	ttG/ttT	COSM4937018,COSM4937019	1		-1	KIF21B	HGNC	HGNC:29442	protein_coding	YES	CCDS58056.1	ENSP00000411831	O75037		UPI0000153E7C	NM_001252100.1	deleterious(0)		7/35		PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	57	201004447	201004447	C	A	1	0	0	0	0	1	0	0	0	8154	593	21	2		2	KIF21B	1	201004447	Missense_Mutation	SNP	C	C3N-00560_TP	15545	201004447	47951975	110	18049											
CACNA1S	0	.	GRCh38	chr1	201074514	201074514	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagcactcacttggacatCttcctgcgttttttctcctc	6	15	7	13	1	3	0	1	0	2	0	6	2	4	2	2	2	2	2	2	2	1	5	rs200844059		C3N-00560_TP	C3N-00560_NB	C	C																c.2055G>A	p.=	p.K685K	ENST00000362061	14/44	597	440	157	454	454	0	strelka-varscan-mutect	CACNA1S,synonymous_variant,p.=,ENST00000362061,NM_000069.2;CACNA1S,synonymous_variant,p.=,ENST00000367338,;	T	ENST00000362061	Transcript	synonymous_variant	2282/6166	2055/5622	685/1873	K	aaG/aaA	rs200844059	1		-1	CACNA1S	HGNC	HGNC:1397	protein_coding	YES	CCDS1407.1	ENSP00000355192	Q13698		UPI000020471D	NM_000069.2			14/44		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs200844059	.												T	2	4	57	201074514	201074514	C	T	1	0	0	0	0	0	0	0	1	2235	912	32	3		3	CACNA1S	1	201074514	Silent	SNP	C	C3N-00560_TP	70067	201074514	47881908	111	18050											
IGFN1	0	.	GRCh38	chr1	201207988	201207988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctggccctgcaggaggagGgtctgggagagttgccagtc	6	9	17	9	0	2	1	0	0	2	1	3	4	2	3	2	5	2	2	2	5	0	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3095G>T	p.Gly1032Val	p.G1032V	ENST00000335211	12/24	313	245	68	241	241	0	strelka-varscan-mutect	IGFN1,missense_variant,p.Gly1032Val,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;	T	ENST00000335211	Transcript	missense_variant	3225/11810	3095/11127	1032/3708	G/V	gGg/gTg		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1	tolerated(0.22)		12/24		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF630																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	201207988	201207988	G	T	1	0	0	0	0	1	0	0	0	7497	1232	43	2		2	IGFN1	1	201207988	Missense_Mutation	SNP	G	C3N-00560_TP	133474	201207988	47748434	112	18051											
IGFN1	0	.	GRCh38	chr1	201215018	201215018	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctgtctccagctcacCacccaggatggagtcatctt	7	10	9	15	0	4	0	2	0	2	0	5	2	4	2	4	3	1	1	4	3	0	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.8859C>A	p.=	p.T2953T	ENST00000335211	14/24	150	102	48	104	104	0	strelka-varscan-mutect	IGFN1,synonymous_variant,p.=,ENST00000335211,NM_001164586.1;IGFN1,synonymous_variant,p.=,ENST00000295591,;IGFN1,synonymous_variant,p.=,ENST00000412892,;IGFN1,synonymous_variant,p.=,ENST00000437879,;IGFN1,non_coding_transcript_exon_variant,,ENST00000473483,;	A	ENST00000335211	Transcript	synonymous_variant	8989/11810	8859/11127	2953/3708	T	acC/acA		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1			14/24		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF630,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	57	201215018	201215018	C	A	1	0	0	0	0	0	0	0	1	7497	608	21	2		2	IGFN1	1	201215018	Silent	SNP	C	C3N-00560_TP	7030	201215018	47741404	113	18052											
PKP1	0	.	GRCh38	chr1	201283861	201283861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccgtcaagcggcagaaGtccaagtcttcccagtcgtc	10	8	10	13	3	2	2	1	1	1	1	6	2	4	2	3	1	1	1	3	1	3	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.159G>T	p.Lys53Asn	p.K53N	ENST00000263946	1/15	809	569	240	641	641	0	strelka-varscan-mutect	PKP1,missense_variant,p.Lys53Asn,ENST00000263946,NM_000299.3;PKP1,missense_variant,p.Lys53Asn,ENST00000367324,NM_001005337.2;PKP1,missense_variant,p.Lys53Asn,ENST00000352845,;	T	ENST00000263946	Transcript	missense_variant	410/5447	159/2244	53/747	K/N	aaG/aaT		1		1	PKP1	HGNC	HGNC:9023	protein_coding	YES	CCDS30966.1	ENSP00000263946	Q13835		UPI0000131B86	NM_000299.3	deleterious(0.01)		1/15		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF3,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	201283861	201283861	G	T	1	0	0	0	0	1	0	0	0	12080	1020	36	2		2	PKP1	1	201283861	Missense_Mutation	SNP	G	C3N-00560_TP	68843	201283861	47672561	114	18053											
TNNT2	0	.	GRCh38	chr1	201361283	201361283	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcatggcggcccacctcaTatttctgctgcttgaacttc	7	12	8	14	1	2	1	1	1	1	0	3	1	2	1	2	2	4	3	2	2	2	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.806A>T	p.Tyr269Phe	p.Y269F	ENST00000236918	14/16	514	335	179	397	397	0	strelka-varscan-mutect	TNNT2,missense_variant,p.Tyr259Phe,ENST00000509001,NM_001276347.1;TNNT2,missense_variant,p.Tyr197Phe,ENST00000458432,;TNNT2,missense_variant,p.Tyr256Phe,ENST00000367322,NM_001001431.2;TNNT2,missense_variant,p.Tyr259Phe,ENST00000367318,NM_001001430.2;TNNT2,missense_variant,p.Tyr269Phe,ENST00000236918,NM_001276345.1,NM_000364.3;TNNT2,missense_variant,p.Tyr197Phe,ENST00000421663,;TNNT2,missense_variant,p.Tyr262Phe,ENST00000367315,;TNNT2,missense_variant,p.Tyr253Phe,ENST00000367317,NM_001001432.2;TNNT2,missense_variant,p.Tyr226Phe,ENST00000367320,NM_001276346.1;TNNT2,missense_variant,p.Tyr226Phe,ENST00000360372,;TNNT2,missense_variant,p.Tyr253Phe,ENST00000438742,;TNNT2,downstream_gene_variant,,ENST00000455702,;TNNT2,downstream_gene_variant,,ENST00000422165,;TNNT2,downstream_gene_variant,,ENST00000412633,;TNNT2,non_coding_transcript_exon_variant,,ENST00000460780,;TNNT2,non_coding_transcript_exon_variant,,ENST00000476888,;TNNT2,non_coding_transcript_exon_variant,,ENST00000477035,;TNNT2,downstream_gene_variant,,ENST00000466570,;TNNT2,non_coding_transcript_exon_variant,,ENST00000491504,;TNNT2,non_coding_transcript_exon_variant,,ENST00000515042,;TNNT2,downstream_gene_variant,,ENST00000503459,;	A	ENST00000236918	Transcript	missense_variant	806/1098	806/897	269/298	Y/F	tAt/tTt		1		-1	TNNT2	HGNC	HGNC:11949	protein_coding	YES	CCDS73003.1	ENSP00000236918	P45379		UPI0000186843	NM_001276345.1,NM_000364.3	deleterious(0.01)		14/16		Gene3D:1.20.5.350,Pfam_domain:PF00992,hmmpanther:PTHR11521,hmmpanther:PTHR11521:SF5,Superfamily_domains:SSF90250																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	201361283	201361283	T	A	1	0	0	0	0	1	0	0	0	16804	1420	49	4		4	TNNT2	1	201361283	Missense_Mutation	SNP	T	C3N-00560_TP	77422	201361283	47595139	115	18054											
PPP1R12B	0	.	GRCh38	chr1	202425598	202425598	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtcaagaaaagaagaaGagcagcagatgttgcaggat	18	5	13	5	0	1	5	1	0	0	5	1	6	1	6	0	1	4	5	0	1	5	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.574G>T	p.Glu192Ter	p.E192*	ENST00000608999	4/24	193	133	60	171	171	0	strelka-varscan-mutect	PPP1R12B,stop_gained,p.Glu192Ter,ENST00000391959,;PPP1R12B,stop_gained,p.Glu192Ter,ENST00000608999,NM_002481.3;PPP1R12B,stop_gained,p.Glu192Ter,ENST00000480184,NM_001167857.1;PPP1R12B,stop_gained,p.Glu192Ter,ENST00000356764,NM_001167858.1;PPP1R12B,intron_variant,,ENST00000466968,;PPP1R12B,3_prime_UTR_variant,,ENST00000476364,;PPP1R12B,upstream_gene_variant,,ENST00000488330,;	T	ENST00000608999	Transcript	stop_gained	727/15248	574/2949	192/982	E/*	Gag/Tag		1		1	PPP1R12B	HGNC	HGNC:7619	protein_coding	YES	CCDS1426.1	ENSP00000476755	O60237		UPI0000458A57	NM_002481.3			4/24		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50297,hmmpanther:PTHR24179:SF18,hmmpanther:PTHR24179,Gene3D:1.25.40.20,PIRSF_domain:PIRSF038141,Superfamily_domains:SSF48403																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	202425598	202425598	G	T	1	0	0	0	0	0	1	0	0	12465	943	33	2		2	PPP1R12B	1	202425598	Nonsense_Mutation	SNP	G	C3N-00560_TP	1064315	202425598	46530824	116	18055											
PPFIA4	0	.	GRCh38	chr1	203060250	203060250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgcctggtatgtggcaGcctgccgggccaacgtcaag	6	8	14	13	2	1	0	1	0	0	0	1	0	1	0	5	3	5	2	5	3	3	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2551G>A	p.Ala851Thr	p.A851T	ENST00000447715	27/35	261	190	71	233	233	0	strelka-varscan-mutect	PPFIA4,missense_variant,p.Ala852Thr,ENST00000367240,NM_001304331.1,NM_001304332.1;PPFIA4,missense_variant,p.Ala367Thr,ENST00000295706,;PPFIA4,missense_variant,p.Ala851Thr,ENST00000447715,;PPFIA4,missense_variant,p.Ala367Thr,ENST00000272198,;PPFIA4,missense_variant,p.Ala367Thr,ENST00000599966,;PPFIA4,missense_variant,p.Ala619Thr,ENST00000600426,;PPFIA4,downstream_gene_variant,,ENST00000599514,;PPFIA4,upstream_gene_variant,,ENST00000486360,;PPFIA4,upstream_gene_variant,,ENST00000594656,;PPFIA4,downstream_gene_variant,,ENST00000600447,;	A	ENST00000447715	Transcript	missense_variant	2992/6349	2551/3558	851/1185	A/T	Gcc/Acc		1		1	PPFIA4	HGNC	HGNC:9248	protein_coding	YES		ENSP00000402576	O75335		UPI0001661778		deleterious(0)		27/35		Gene3D:1.10.150.50,Pfam_domain:PF00536,PROSITE_profiles:PS50105,hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF5,SMART_domains:SM00454,Superfamily_domains:SSF47769																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	203060250	203060250	G	A	1	0	0	0	0	1	0	0	0	12421	971	34	3		3	PPFIA4	1	203060250	Missense_Mutation	SNP	G	C3N-00560_TP	634652	203060250	45896172	117	18056											
PRELP	0	.	GRCh38	chr1	203483937	203483937	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccagctctacctggacagTaacaagattgagaccatccc	13	7	7	14	0	1	2	0	1	1	2	2	4	2	3	4	1	3	2	4	1	3	3	rs376825552		C3N-00560_TP	C3N-00560_NB	T	T																c.753T>A	p.Ser251Arg	p.S251R	ENST00000343110	2/3	343	251	92	266	265	1	strelka-varscan-mutect	PRELP,missense_variant,p.Ser251Arg,ENST00000343110,NM_002725.3,NM_201348.1;	A	ENST00000343110	Transcript	missense_variant	880/5747	753/1149	251/382	S/R	agT/agA	rs376825552	1		1	PRELP	HGNC	HGNC:9357	protein_coding	YES	CCDS1438.1	ENSP00000343924	P51888		UPI000013222E	NM_002725.3,NM_201348.1	tolerated(0.71)		2/3		PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF152,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs376825552	.												A	3	1	57	203483937	203483937	T	A	1	0	0	0	0	1	0	0	0	12607	1635	57	4		4	PRELP	1	203483937	Missense_Mutation	SNP	T	C3N-00560_TP	423687	203483937	45472485	118	18057											
RAB29	0	.	GRCh38	chr1	205770794	205770794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtccaacctgtgaaacCgttctctttactgaaccggt	8	14	7	12	2	2	2	0	2	2	0	4	2	3	2	4	1	4	1	4	1	4	4			C3N-00560_TP	C3N-00560_NB	C	C																c.439G>A	p.Gly147Ser	p.G147S	ENST00000367139	5/6	432	317	115	331	331	0	strelka-varscan-mutect	RAB29,missense_variant,p.Gly147Ser,ENST00000367139,NM_003929.2;RAB29,missense_variant,p.Gly147Ser,ENST00000235932,NM_001135662.1;RAB29,missense_variant,p.Gly123Ser,ENST00000446390,NM_001135663.1;RAB29,missense_variant,p.Gly75Ser,ENST00000437324,NM_001135664.1;RAB29,missense_variant,p.Gly147Ser,ENST00000414729,;RAB29,non_coding_transcript_exon_variant,,ENST00000468887,;RAB29,downstream_gene_variant,,ENST00000533111,;RAB29,3_prime_UTR_variant,,ENST00000528078,;RAB29,downstream_gene_variant,,ENST00000492534,;	T	ENST00000367139	Transcript	missense_variant	743/3272	439/612	147/203	G/S	Ggt/Agt	COSM1560314	1		-1	RAB29	HGNC	HGNC:9789	protein_coding	YES	CCDS1459.1	ENSP00000356107	O14966	Q6FGU7	UPI0000133181	NM_003929.2	deleterious(0.01)		5/6		PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF315,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		rs1372871032	.												T	3	4	57	205770794	205770794	C	T	1	0	0	0	0	1	0	0	0	13075	652	23	1		1	RAB29	1	205770794	Missense_Mutation	SNP	C	C3N-00560_TP	2286857	205770794	43185628	119	18058											
SLC26A9	0	.	GRCh38	chr1	205931983	205931983	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctggaatttcgactctggGgccagctgcagacagatgtt	9	10	12	10	1	1	2	0	0	1	2	2	4	1	3	2	3	2	3	2	3	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.429C>A	p.=	p.A143A	ENST00000367134	5/22	236	164	72	203	203	0	strelka-varscan-mutect	SLC26A9,synonymous_variant,p.=,ENST00000367135,NM_052934.3;SLC26A9,synonymous_variant,p.=,ENST00000367134,NM_134325.2;SLC26A9,synonymous_variant,p.=,ENST00000340781,;RP4-681L3.2,upstream_gene_variant,,ENST00000421166,;SLC26A9,upstream_gene_variant,,ENST00000491127,;SLC26A9,upstream_gene_variant,,ENST00000469392,;	T	ENST00000367134	Transcript	synonymous_variant	543/4616	429/2664	143/887	A	gcC/gcA		1		-1	SLC26A9	HGNC	HGNC:14469	protein_coding	YES	CCDS30989.1	ENSP00000356102	Q7LBE3		UPI000013DF98	NM_134325.2			5/22		Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF17,TIGRFAM_domain:TIGR00815																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	57	205931983	205931983	G	T	1	0	0	0	0	0	0	0	1	14794	1219	43	2		2	SLC26A9	1	205931983	Silent	SNP	G	C3N-00560_TP	161189	205931983	43024439	120	18059											
CR1	0	.	GRCh38	chr1	207496350	207496350	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcggaggatccctgcTggcggttgtggtgctgcttg	2	12	17	10	2	0	0	0	0	0	0	1	2	1	2	1	5	5	5	1	5	0	2	rs752683886		C3N-00560_TP	C3N-00560_NB	T	T																c.83T>A	p.Leu28Gln	p.L28Q	ENST00000367049	1/47	332	247	85	288	288	0	strelka-varscan-mutect	CR1,missense_variant,p.Leu28Gln,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Leu28Gln,ENST00000367051,;CR1,missense_variant,p.Leu28Gln,ENST00000367052,;CR1,missense_variant,p.Leu28Gln,ENST00000367053,;CR1,missense_variant,p.Leu28Gln,ENST00000400960,NM_000573.3;CR1,missense_variant,p.Leu4Gln,ENST00000529814,;CR1,non_coding_transcript_exon_variant,,ENST00000367050,;CR1,missense_variant,p.Leu28Gln,ENST00000534202,;CR1,non_coding_transcript_exon_variant,,ENST00000434033,;CR1,non_coding_transcript_exon_variant,,ENST00000436595,;CR1,non_coding_transcript_exon_variant,,ENST00000450439,;CR1,non_coding_transcript_exon_variant,,ENST00000530487,;	A	ENST00000367049	Transcript	missense_variant	83/7470	83/7470	28/2489	L/Q	cTg/cAg	rs752683886	1		1	CR1	HGNC	HGNC:2334	protein_coding	YES	CCDS44308.1	ENSP00000356016		E9PDY4	UPI000040E8CF	NM_000651.4	deleterious_low_confidence(0)		1/47		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-TM																	MODERATE	1	SNV	5			1										PASS		rs752683886	.												A	3	1	57	207496350	207496350	T	A	1	0	0	0	0	1	0	0	0	3638	1580	55	4		4	CR1	1	207496350	Missense_Mutation	SNP	T	C3N-00560_TP	1564367	207496350	41460072	121	18060											
RPS6KC1	0	.	GRCh38	chr1	213241654	213241654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataatagaaaataaactcttGgaagcccctgatgttttatg	15	13	7	6	0	1	2	0	1	1	1	1	3	1	3	2	1	2	1	2	1	8	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2178G>T	p.Leu726Phe	p.L726F	ENST00000366960	11/15	209	149	60	203	203	0	strelka-varscan-mutect	RPS6KC1,missense_variant,p.Leu726Phe,ENST00000366960,NM_012424.4;RPS6KC1,missense_variant,p.Leu714Phe,ENST00000366959,NM_001136138.2;RPS6KC1,missense_variant,p.Leu514Phe,ENST00000543470,NM_001287219.1;RPS6KC1,missense_variant,p.Leu514Phe,ENST00000614059,NM_001287218.1;RPS6KC1,missense_variant,p.Leu545Phe,ENST00000543354,NM_001287221.1;RPS6KC1,missense_variant,p.Leu261Phe,ENST00000615329,NM_001287220.1;RPS6KC1,non_coding_transcript_exon_variant,,ENST00000490299,;RPS6KC1,upstream_gene_variant,,ENST00000491616,;	T	ENST00000366960	Transcript	missense_variant	2328/5490	2178/3201	726/1066	L/F	ttG/ttT		1		1	RPS6KC1	HGNC	HGNC:10439	protein_coding	YES	CCDS1513.1	ENSP00000355927	Q96S38		UPI0000071B8C	NM_012424.4	tolerated_low_confidence(0.15)		11/15		hmmpanther:PTHR15508,hmmpanther:PTHR15508:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	213241654	213241654	G	T	1	0	0	0	0	1	0	0	0	13913	1339	47	2		2	RPS6KC1	1	213241654	Missense_Mutation	SNP	G	C3N-00560_TP	5745304	213241654	35714768	122	18061											
CENPF	0	.	GRCh38	chr1	214618694	214618694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccaagtcaatattatagtGgtaatgcattttcttccttg	11	16	6	8	0	2	0	1	0	1	0	3	0	3	0	2	1	1	2	2	1	6	8	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.481G>T	p.Gly161Cys	p.G161C	ENST00000366955	4/20	122	84	38	115	115	0	strelka-varscan-mutect	CENPF,missense_variant,p.Gly161Cys,ENST00000366955,NM_016343.3;CENPF,downstream_gene_variant,,ENST00000464322,;CENPF,downstream_gene_variant,,ENST00000495259,;	T	ENST00000366955	Transcript	missense_variant,splice_region_variant	649/10307	481/9345	161/3114	G/C	Ggt/Tgt		1		1	CENPF	HGNC	HGNC:1857	protein_coding	YES	CCDS31023.1	ENSP00000355922	P49454		UPI00001AE985	NM_016343.3	deleterious(0.03)		4/20		Pfam_domain:PF10481,hmmpanther:PTHR18874																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	214618694	214618694	G	T	1	0	0	0	0	1	0	0	0	2939	1362	47	2		2	CENPF	1	214618694	Missense_Mutation	SNP	G	C3N-00560_TP	1377040	214618694	34337728	123	18062											
USH2A	0	.	GRCh38	chr1	216207409	216207409	+	Frame_Shift_Del	DEL	G	G	-																															gaactttgaacttgtcctctGggcggaggttgctggaatgg																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3180delC	p.Arg1061GlufsTer51	p.R1061Efs*51	ENST00000307340	16/72	255	195	60	289	287	2	sindel-varindel-pindel	USH2A,frameshift_variant,p.Arg1061GlufsTer51,ENST00000307340,NM_206933.2;USH2A,frameshift_variant,p.Arg1061GlufsTer51,ENST00000366942,NM_007123.5;RP5-1099E6.3,downstream_gene_variant,,ENST00000420867,;	-	ENST00000307340	Transcript	frameshift_variant	3567/18883	3180/15609	1060/5202	P/X	ccC/cc		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			16/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00060,Superfamily_domains:SSF49265																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	57	216207409	216207409	G	-	1	0	1	0	1	0	0	0	0	17570	1335	47	0		0	USH2A	1	216207409	Frame_Shift_Del	DEL	G	C3N-00560_TP	1588715	216207409	32749013	124	18063											
USH2A	0	.	GRCh38	chr1	216250927	216250927	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtttgctttgcacttgcActggcctgaattttggtgac	7	15	10	9	1	0	2	0	2	0	0	0	2	0	2	1	2	4	4	1	2	2	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.2143T>G	p.Cys715Gly	p.C715G	ENST00000307340	12/72	368	266	102	389	389	0	strelka-varscan-mutect	USH2A,missense_variant,p.Cys715Gly,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Cys715Gly,ENST00000366942,NM_007123.5;	C	ENST00000307340	Transcript	missense_variant	2530/18883	2143/15609	715/5202	C/G	Tgc/Ggc		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0.01)		12/72		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00180,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	216250927	216250927	A	C	1	0	0	0	0	1	0	0	0	17570	159	6	5		5	USH2A	1	216250927	Missense_Mutation	SNP	A	C3N-00560_TP	43518	216250927	32705495	125	18064											
USH2A	0	.	GRCh38	chr1	216324195	216324195	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagacagttgacagaaTcaggtttttccaaatctcca	13	11	8	9	0	2	4	1	2	1	2	4	4	3	4	2	1	0	3	2	1	3	3	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1301A>T	p.Asp434Val	p.D434V	ENST00000307340	7/72	135	95	40	171	170	1	strelka-varscan-mutect	USH2A,missense_variant,p.Asp434Val,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Asp434Val,ENST00000366942,NM_007123.5;	A	ENST00000307340	Transcript	missense_variant	1688/18883	1301/15609	434/5202	D/V	gAt/gTt		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		7/72		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00136																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	216324195	216324195	T	A	1	0	0	0	0	1	0	0	0	17570	1435	50	4		4	USH2A	1	216324195	Missense_Mutation	SNP	T	C3N-00560_TP	73268	216324195	32632227	126	18065											
ESRRG	0	.	GRCh38	chr1	216564267	216564267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccaccaactctcggtcggCcaagtcacacagtgtagtga	12	7	9	13	2	2	1	1	1	1	0	4	1	2	1	3	2	2	1	3	2	4	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.850G>A	p.Ala284Thr	p.A284T	ENST00000366937	6/8	142	127	15	125	125	0	strelka-varscan-mutect	ESRRG,missense_variant,p.Ala249Thr,ENST00000391890,NM_001243515.1,NM_001243519.1;ESRRG,missense_variant,p.Ala249Thr,ENST00000360012,NM_001243514.1;ESRRG,missense_variant,p.Ala284Thr,ENST00000366937,NM_001243518.1;ESRRG,missense_variant,p.Ala249Thr,ENST00000361525,NM_206594.2;ESRRG,missense_variant,p.Ala249Thr,ENST00000366940,NM_001134285.2,NM_001243511.2;ESRRG,missense_variant,p.Ala249Thr,ENST00000493603,NM_001243510.2;ESRRG,missense_variant,p.Ala249Thr,ENST00000366938,NM_001243513.1;ESRRG,missense_variant,p.Ala249Thr,ENST00000361395,;ESRRG,missense_variant,p.Ala272Thr,ENST00000408911,NM_001438.3;ESRRG,missense_variant,p.Ala249Thr,ENST00000359162,NM_206595.2,NM_001243506.1;ESRRG,missense_variant,p.Ala249Thr,ENST00000616180,;ESRRG,missense_variant,p.Ala210Thr,ENST00000463665,NM_001243507.1;ESRRG,missense_variant,p.Ala249Thr,ENST00000487276,NM_001243512.1;ESRRG,missense_variant,p.Ala249Thr,ENST00000493748,NM_001243509.1;ESRRG,missense_variant,p.Ala249Thr,ENST00000475275,;ESRRG,downstream_gene_variant,,ENST00000586199,;	T	ENST00000366937	Transcript	missense_variant	1117/5365	850/1413	284/470	A/T	Gcc/Acc		1		-1	ESRRG	HGNC	HGNC:3474	protein_coding	YES	CCDS58061.1	ENSP00000355904	P62508		UPI0000D4BFAB	NM_001243518.1	tolerated(0.22)		6/8		hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF21,PIRSF_domain:PIRSF500939,Gene3D:1.10.565.10,PIRSF_domain:PIRSF002527,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR00398																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	216564267	216564267	C	T	1	0	0	0	0	1	0	0	0	5124	739	26	3		3	ESRRG	1	216564267	Missense_Mutation	SNP	C	C3N-00560_TP	240072	216564267	32392155	127	18066											
SPATA17	0	.	GRCh38	chr1	217801741	217801741	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccattttcttcataccAtaaaaatgaaaagtacatcc	15	14	3	9	0	2	1	1	1	1	0	3	1	3	1	3	0	3	1	3	0	7	7	rs549452959		C3N-00560_TP	C3N-00560_NB	A	A																c.896A>T	p.His299Leu	p.H299L	ENST00000366933	9/11	55	41	14	108	108	0	strelka-varscan-mutect	SPATA17,missense_variant,p.His299Leu,ENST00000366933,NM_138796.3;SPATA17,non_coding_transcript_exon_variant,,ENST00000471021,;SPATA17,non_coding_transcript_exon_variant,,ENST00000492747,;	T	ENST00000366933	Transcript	missense_variant	951/5818	896/1086	299/361	H/L	cAt/cTt	rs549452959	1		1	SPATA17	HGNC	HGNC:25184	protein_coding	YES	CCDS1519.1	ENSP00000355900	Q96L03		UPI00000717C2	NM_138796.3	deleterious(0)		9/11		hmmpanther:PTHR22706																	MODERATE	1	SNV	1			1										PASS		rs549452959	.												T	3	4	57	217801741	217801741	A	T	1	0	0	0	0	1	0	0	0	15332	217	8	4		4	SPATA17	1	217801741	Missense_Mutation	SNP	A	C3N-00560_TP	1237474	217801741	31154681	128	18067											
ZC3H11B	0	.	GRCh38	chr1	219610431	219610431	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcaactcctgtggtctcAactgaagcctctgtagcttc	8	13	8	12	0	3	1	2	1	2	0	6	1	4	1	2	1	4	2	2	1	4	2	rs534921022		C3N-00560_TP	C3N-00560_NB	A	A																c.1632T>A	p.=	p.V544V	ENST00000636126	2/2	82	56	26	68	68	0	strelka-varscan-mutect	ZC3H11B,synonymous_variant,p.=,ENST00000636126,;ZC3H11B,synonymous_variant,p.=,ENST00000367211,;	T	ENST00000636126	Transcript	synonymous_variant	2348/4432	1632/2418	544/805	V	gtT/gtA	rs534921022	1		-1	ZC3H11B	HGNC	HGNC:25659	protein_coding	YES		ENSP00000489836			UPI000013E86C				2/2		hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2																	LOW	1	SNV				1										PASS		rs534921022	.												T	2	4	57	219610431	219610431	A	T	1	0	0	0	0	0	0	0	1	18135	117	5	4		4	ZC3H11B	1	219610431	Silent	SNP	A	C3N-00560_TP	1808690	219610431	29345991	129	18068											
EPRS	0	.	GRCh38	chr1	219983188	219983188	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaaaaagcaagctcacttaCctctggggcaaagtcagcaa	16	7	8	10	0	3	0	2	0	1	0	3	0	3	0	1	2	4	4	1	2	7	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3300+1G>T		p.X1100_splice	ENST00000366923		180	123	57	169	168	1	strelka-varscan-mutect	EPRS,splice_donor_variant,,ENST00000366923,NM_004446.2;EPRS,downstream_gene_variant,,ENST00000609181,;EPRS,splice_donor_variant,,ENST00000485821,;	A	ENST00000366923	Transcript	splice_donor_variant	-/5014	3300/4539	1100/1512				1		-1	EPRS	HGNC	HGNC:3418	protein_coding	YES	CCDS31027.1	ENSP00000355890	P07814		UPI0000205E8C	NM_004446.2				22/31																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	57	219983188	219983188	C	A	1	0	0	0	0	0	0	1	0	5039	521	18	2		2	EPRS	1	219983188	Splice_Site	SNP	C	C3N-00560_TP	372757	219983188	28973234	130	18069											
DUSP10	0	.	GRCh38	chr1	221739736	221739736	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgtcgtctaaaggagaCggaggcatgaggaggctgaa	12	6	15	8	2	1	3	0	2	1	1	2	6	1	5	1	5	0	2	1	5	3	1	rs776606563		C3N-00560_TP	C3N-00560_NB	C	C																c.9G>T	p.=	p.P3P	ENST00000366899	2/4	39	27	12	44	44	0	strelka-varscan-mutect	DUSP10,synonymous_variant,p.=,ENST00000366899,NM_007207.5;DUSP10,intron_variant,,ENST00000477026,;DUSP10,upstream_gene_variant,,ENST00000468085,;	A	ENST00000366899	Transcript	synonymous_variant	248/2676	9/1449	3/482	P	ccG/ccT	rs776606563,COSM679488	1		-1	DUSP10	HGNC	HGNC:3065	protein_coding	YES	CCDS1528.1	ENSP00000355866	Q9Y6W6		UPI000003473B	NM_007207.5			2/4													0,1						LOW	1	SNV	1		0,1	1										PASS		rs776606563	.												A	2	1	57	221739736	221739736	C	A	1	0	0	0	0	0	0	0	1	4632	523	19	1		1	DUSP10	1	221739736	Silent	SNP	C	C3N-00560_TP	1756548	221739736	27216686	131	18070											
FAM177B	0	.	GRCh38	chr1	222746692	222746692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagaggaaaaggaggaGcagagcacaaattcaacact	19	3	13	6	0	1	2	1	0	0	2	1	7	1	6	0	4	3	2	0	4	5	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.147G>A	p.=	p.E49E	ENST00000445590	1/4	108	79	29	111	111	0	strelka-varscan-mutect	FAM177B,synonymous_variant,p.=,ENST00000445590,;FAM177B,synonymous_variant,p.=,ENST00000360827,NM_207468.2;FAM177B,synonymous_variant,p.=,ENST00000456298,;FAM177B,synonymous_variant,p.=,ENST00000434700,;FAM177B,synonymous_variant,p.=,ENST00000391880,;FAM177B,intron_variant,,ENST00000460763,;	A	ENST00000445590	Transcript	synonymous_variant	164/1096	147/477	49/158	E	gaG/gaA		1		1	FAM177B	HGNC	HGNC:34395	protein_coding	YES	CCDS1535.2	ENSP00000414451	A6PVY3		UPI00001D75B4				1/4		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14774,hmmpanther:PTHR31206,hmmpanther:PTHR31206:SF9,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	57	222746692	222746692	G	A	1	0	0	0	0	0	0	0	1	5348	962	34	3		3	FAM177B	1	222746692	Silent	SNP	G	C3N-00560_TP	1006956	222746692	26209730	132	18071											
EPHX1	0	.	GRCh38	chr1	225828762	225828762	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctcctcacttcagtgctGggctttgccatctactggtt	5	15	8	13	0	3	0	2	0	1	0	5	0	5	0	3	2	3	3	3	2	1	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.33G>C	p.=	p.L11L	ENST00000614058	2/9	330	247	83	267	267	0	strelka-varscan-mutect	EPHX1,synonymous_variant,p.=,ENST00000614058,NM_001291163.1;EPHX1,synonymous_variant,p.=,ENST00000366837,NM_000120.3;EPHX1,synonymous_variant,p.=,ENST00000272167,NM_001136018.3;EPHX1,synonymous_variant,p.=,ENST00000448202,;EPHX1,synonymous_variant,p.=,ENST00000445856,;EPHX1,upstream_gene_variant,,ENST00000467015,;	C	ENST00000614058	Transcript	synonymous_variant	242/1789	33/1368	11/455	L	ctG/ctC		1		1	EPHX1	HGNC	HGNC:3401	protein_coding	YES	CCDS1547.1	ENSP00000480004	P07099	R4SBI6	UPI000012CFF2	NM_001291163.1			2/9		PIRSF_domain:PIRSF001112,hmmpanther:PTHR21661,hmmpanther:PTHR21661:SF34,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	57	225828762	225828762	G	C	1	0	0	0	0	0	0	0	1	5026	1335	47	4		4	EPHX1	1	225828762	Silent	SNP	G	C3N-00560_TP	3082070	225828762	23127660	133	18072											
PARP1	0	.	GRCh38	chr1	226386347	226386347	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgactccccagaaggcacTtgctgcttgttgaagatgag	9	9	12	11	1	0	4	0	2	0	2	1	5	1	4	3	1	2	4	3	1	2	3	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.813A>G	p.=	p.Q271Q	ENST00000366794	6/23	605	434	171	494	494	0	strelka-varscan-mutect	PARP1,synonymous_variant,p.=,ENST00000366794,NM_001618.3;PARP1,downstream_gene_variant,,ENST00000469663,;	C	ENST00000366794	Transcript	synonymous_variant	957/3958	813/3045	271/1014	Q	caA/caG		1		-1	PARP1	HGNC	HGNC:270	protein_coding	YES	CCDS1554.1	ENSP00000355759	P09874	A0A024R3T8	UPI000013D92D	NM_001618.3			6/23		hmmpanther:PTHR10459,hmmpanther:PTHR10459:SF62,PIRSF_domain:PIRSF000489																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	57	226386347	226386347	T	C	1	0	0	0	0	0	0	0	1	11534	1606	56	5		5	PARP1	1	226386347	Silent	SNP	T	C3N-00560_TP	557585	226386347	22570075	134	18073											
ITPKB	0	.	GRCh38	chr1	226648724	226648724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttgaaggacatgacGaagggagaccagtgcaccat	12	9	11	9	1	2	3	0	2	2	1	2	6	2	4	2	2	1	1	2	2	2	3	rs769795552		C3N-00560_TP	C3N-00560_NB	G	G																c.1980C>A	p.Phe660Leu	p.F660L	ENST00000429204	3/8	218	162	56	186	186	0	strelka-varscan-mutect	ITPKB,missense_variant,p.Phe660Leu,ENST00000429204,NM_002221.3;ITPKB,missense_variant,p.Phe660Leu,ENST00000272117,;	T	ENST00000429204	Transcript	missense_variant	2320/6162	1980/2841	660/946	F/L	ttC/ttA	rs769795552	1		-1	ITPKB	HGNC	HGNC:6179	protein_coding	YES	CCDS1555.1	ENSP00000411152	P27987		UPI000013D92B	NM_002221.3	deleterious(0.05)		3/8		hmmpanther:PTHR12400,hmmpanther:PTHR12400:SF4																	MODERATE	1	SNV	5			1										PASS		rs769795552	.												T	3	4	57	226648724	226648724	G	T	1	0	0	0	0	1	0	0	0	7824	1049	37	1		1	ITPKB	1	226648724	Missense_Mutation	SNP	G	C3N-00560_TP	262377	226648724	22307698	135	18074											
OBSCN	0	.	GRCh38	chr1	228216431	228216431	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcccccagcggccccaggGctgactgccaacaagccgcc	7	3	12	19	2	0	1	0	1	0	0	0	1	0	1	7	3	4	1	7	3	2	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2106G>T	p.=	p.G702G	ENST00000570156	7/116	94	72	22	82	82	0	strelka-varscan-mutect	OBSCN,synonymous_variant,p.=,ENST00000570156,NM_001271223.2;OBSCN,synonymous_variant,p.=,ENST00000366707,;OBSCN,synonymous_variant,p.=,ENST00000422127,NM_001098623.2;OBSCN,synonymous_variant,p.=,ENST00000636875,;OBSCN,synonymous_variant,p.=,ENST00000284548,NM_052843.3;C1orf145,upstream_gene_variant,,ENST00000295012,;OBSCN,non_coding_transcript_exon_variant,,ENST00000493977,;C1orf145,upstream_gene_variant,,ENST00000337335,;C1orf145,upstream_gene_variant,,ENST00000472613,;	T	ENST00000570156	Transcript	synonymous_variant	2180/26925	2106/26772	702/8923	G	ggG/ggT		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2			7/116		PROSITE_profiles:PS50835,Gene3D:2.60.40.10																	LOW		SNV	5			1										PASS		.	.												T	2	4	57	228216431	228216431	G	T	1	0	0	0	0	0	0	0	1	10889	1190	42	2		2	OBSCN	1	228216431	Silent	SNP	G	C3N-00560_TP	1567707	228216431	20739991	136	18075											
OBSCN	0	.	GRCh38	chr1	228319222	228319222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacctacctcaagaaggctGggaggccaggcacctcacca	11	5	10	15	0	3	1	3	0	0	1	3	2	3	2	5	4	1	2	5	4	3	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.17341G>T	p.Gly5781Trp	p.G5781W	ENST00000570156	65/116	133	98	35	104	104	0	strelka-varscan-mutect	OBSCN,missense_variant,p.Gly5781Trp,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Gly5781Trp,ENST00000366707,;OBSCN,missense_variant,p.Gly4824Trp,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Gly4824Trp,ENST00000636875,;OBSCN,missense_variant,p.Gly4824Trp,ENST00000284548,NM_052843.3;OBSCN,intron_variant,,ENST00000483539,;	T	ENST00000570156	Transcript	missense_variant	17415/26925	17341/26772	5781/8923	G/W	Ggg/Tgg		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	deleterious(0)		65/116		hmmpanther:PTHR10489:SF708,hmmpanther:PTHR10489																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	228319222	228319222	G	T	1	0	0	0	0	1	0	0	0	10889	1348	47	2		2	OBSCN	1	228319222	Missense_Mutation	SNP	G	C3N-00560_TP	102791	228319222	20637200	137	18076											
TRIM11	0	.	GRCh38	chr1	228401059	228401059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggcctaggtgggctgcgcCctcccgcagccggggcagca	4	5	16	16	3	0	0	0	0	0	0	1	0	1	0	4	5	3	4	4	5	1	1	rs202032610		C3N-00560_TP	C3N-00560_NB	C	C																c.640G>T	p.Gly214Cys	p.G214C	ENST00000284551	3/6	225	163	62	216	215	1	strelka-varscan-mutect	TRIM11,missense_variant,p.Gly89Cys,ENST00000493030,;TRIM11,missense_variant,p.Gly214Cys,ENST00000284551,NM_145214.2;TRIM11,missense_variant,p.Gly214Cys,ENST00000366699,;TRIM11,intron_variant,,ENST00000602582,;TRIM11,intron_variant,,ENST00000602308,;TRIM11,upstream_gene_variant,,ENST00000622338,;RP11-245P10.8,downstream_gene_variant,,ENST00000602963,;TRIM11,upstream_gene_variant,,ENST00000475775,;	A	ENST00000284551	Transcript	missense_variant	919/2715	640/1407	214/468	G/C	Ggc/Tgc	rs202032610	1		-1	TRIM11	HGNC	HGNC:16281	protein_coding	YES	CCDS31048.1	ENSP00000284551	Q96F44		UPI000005340A	NM_145214.2	deleterious(0.01)		3/6		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF385																	MODERATE	1	SNV	1			1										PASS		rs202032610	.												A	3	1	57	228401059	228401059	C	A	1	0	0	0	0	1	0	0	0	16976	623	22	2		2	TRIM11	1	228401059	Missense_Mutation	SNP	C	C3N-00560_TP	81837	228401059	20555363	138	18077											
CCSAP	0	.	GRCh38	chr1	229342233	229342233	+	Frame_Shift_Del	DEL	G	G	-																															cgggcggcgggggcgagggcGgggcgcaccggggtgcgggg																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.233delC	p.Pro78ArgfsTer8	p.P78Rfs*8	ENST00000284617	2/4	43	31	12	16	16	0	sindel-varindel-pindel	CCSAP,frameshift_variant,p.Pro78ArgfsTer8,ENST00000284617,NM_145257.4;CCSAP,frameshift_variant,p.Pro78ArgfsTer8,ENST00000366687,;CCSAP,upstream_gene_variant,,ENST00000366686,;CCSAP,non_coding_transcript_exon_variant,,ENST00000483092,;	-	ENST00000284617	Transcript	frameshift_variant	311/5121	233/813	78/270	P/X	cCg/cg		1		-1	CCSAP	HGNC	HGNC:29578	protein_coding	YES	CCDS1577.1	ENSP00000284617	Q6IQ19		UPI0000071365	NM_145257.4			2/4		Low_complexity_(Seg):seg,hmmpanther:PTHR31022:SF4,hmmpanther:PTHR31022,Pfam_domain:PF15748																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	57	229342233	229342233	G	-	1	0	1	0	1	0	0	0	0	2651	1116	39	0		0	CCSAP	1	229342233	Frame_Shift_Del	DEL	G	C3N-00560_TP	941174	229342233	19614189	139	18078											
URB2	0	.	GRCh38	chr1	229647554	229647554	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcctgtgtccctcacAgtggtcgggcctgtcttaga	6	10	13	12	1	2	1	1	0	1	1	4	2	3	1	3	2	2	1	3	2	1	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.3951A>T	p.=	p.T1317T	ENST00000258243	7/10	295	190	105	208	208	0	strelka-varscan-mutect	URB2,synonymous_variant,p.=,ENST00000258243,NM_001314021.1,NM_014777.2;URB2,upstream_gene_variant,,ENST00000434387,;	T	ENST00000258243	Transcript	synonymous_variant	4087/5613	3951/4575	1317/1524	T	acA/acT		1		1	URB2	HGNC	HGNC:28967	protein_coding	YES	CCDS31052.1	ENSP00000258243	Q14146		UPI000013CFBD	NM_001314021.1,NM_014777.2			7/10		hmmpanther:PTHR15682																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	229647554	229647554	A	T	1	0	0	0	0	0	0	0	1	17555	175	7	4		4	URB2	1	229647554	Silent	SNP	A	C3N-00560_TP	305321	229647554	19308868	140	18079											
EGLN1	0	.	GRCh38	chr1	231421618	231421618	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgccttcctgggctcccGggccccggccctgggcggcg	0	6	16	19	5	0	0	0	0	0	0	2	0	2	0	6	5	1	2	6	5	0	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.271C>A	p.=	p.R91R	ENST00000366641	1/5	123	86	37	78	78	0	strelka-varscan-mutect	EGLN1,synonymous_variant,p.=,ENST00000366641,NM_022051.2;EGLN1,upstream_gene_variant,,ENST00000476717,;	T	ENST00000366641	Transcript	synonymous_variant	3427/7097	271/1281	91/426	R	Cgg/Agg		1		-1	EGLN1	HGNC	HGNC:1232	protein_coding	YES	CCDS1595.1	ENSP00000355601	Q9GZT9	R4SCQ0	UPI0000050C90	NM_022051.2			1/5		hmmpanther:PTHR12907,hmmpanther:PTHR12907:SF4,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	231421618	231421618	G	T	1	0	0	0	0	0	0	0	1	4804	1115	39	1		1	EGLN1	1	231421618	Silent	SNP	G	C3N-00560_TP	1774064	231421618	17534804	141	18080											
DISC1	0	.	GRCh38	chr1	231694115	231694115	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaacctcggcgcactttggGattcagctcagaggtggcac	8	8	14	11	2	2	1	2	0	0	1	3	3	2	3	1	5	2	3	1	5	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.357G>T	p.=	p.G119G	ENST00000366633	2/10	657	436	221	563	563	0	strelka-varscan-mutect	DISC1,synonymous_variant,p.=,ENST00000439617,NM_001164537.1,NM_018662.2;DISC1,synonymous_variant,p.=,ENST00000622252,;DISC1,synonymous_variant,p.=,ENST00000366637,NM_001012957.1;DISC1,synonymous_variant,p.=,ENST00000620189,NM_001164540.1;DISC1,synonymous_variant,p.=,ENST00000602281,NM_001164542.1,NM_001164544.1;DISC1,synonymous_variant,p.=,ENST00000366633,NM_001164539.1;DISC1,synonymous_variant,p.=,ENST00000539444,NM_001164545.1,NM_001164548.1;DISC1,synonymous_variant,p.=,ENST00000317586,NM_001012958.1;DISC1,synonymous_variant,p.=,ENST00000535983,NM_001164541.1,NM_001164538.1;DISC1,synonymous_variant,p.=,ENST00000628350,NM_001164546.1,NM_001164549.1,NM_001164547.1;DISC1,synonymous_variant,p.=,ENST00000537876,;DISC1,synonymous_variant,p.=,ENST00000366636,NM_001012959.1;DISC1,intron_variant,,ENST00000602873,NM_001164556.1;DISC1,downstream_gene_variant,,ENST00000602600,;DISC1,synonymous_variant,p.=,ENST00000535944,;DISC1,synonymous_variant,p.=,ENST00000295051,;DISC1,synonymous_variant,p.=,ENST00000602822,;DISC1,synonymous_variant,p.=,ENST00000602713,;DISC1,synonymous_variant,p.=,ENST00000602700,;DISC1,synonymous_variant,p.=,ENST00000366632,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602567,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;DISC1,3_prime_UTR_variant,,ENST00000422590,;DISC1,non_coding_transcript_exon_variant,,ENST00000468399,;	T	ENST00000366633	Transcript	synonymous_variant	410/2676	357/2268	119/755	G	ggG/ggT		1		1	DISC1	HGNC	HGNC:2888	protein_coding	YES	CCDS53482.1	ENSP00000355593	Q9NRI5		UPI0001A61692	NM_001164539.1			2/10		hmmpanther:PTHR14332,hmmpanther:PTHR14332:SF4																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	231694115	231694115	G	T	1	0	0	0	0	0	0	0	1	4344	1161	41	2		2	DISC1	1	231694115	Silent	SNP	G	C3N-00560_TP	272497	231694115	17262307	142	18081											
DISC1	0	.	GRCh38	chr1	231767210	231767210	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacccactgctcaggacAgcttgcacgtgtccatcacg	9	8	10	14	2	2	0	2	0	0	0	3	2	3	2	2	2	4	3	2	2	1	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1339A>T	p.Ser447Cys	p.S447C	ENST00000366633	5/10	368	262	106	319	319	0	strelka-varscan-mutect	DISC1,missense_variant,p.Ser447Cys,ENST00000439617,NM_001164537.1,NM_018662.2;DISC1,missense_variant,p.Ser447Cys,ENST00000366637,NM_001012957.1;DISC1,missense_variant,p.Ser447Cys,ENST00000602281,NM_001164542.1,NM_001164544.1;DISC1,missense_variant,p.Ser447Cys,ENST00000366633,NM_001164539.1;DISC1,missense_variant,p.Ser447Cys,ENST00000539444,NM_001164545.1,NM_001164548.1;DISC1,missense_variant,p.Ser447Cys,ENST00000535983,NM_001164541.1,NM_001164538.1;DISC1,missense_variant,p.Ser447Cys,ENST00000628350,NM_001164546.1,NM_001164549.1,NM_001164547.1;DISC1,missense_variant,p.Ser447Cys,ENST00000537876,;DISC1,missense_variant,p.Ser447Cys,ENST00000366636,NM_001012959.1;DISC1,missense_variant,p.Ser97Cys,ENST00000602873,NM_001164556.1;DISC1,intron_variant,,ENST00000622252,;DISC1,intron_variant,,ENST00000620189,NM_001164540.1;DISC1,missense_variant,p.Ser447Cys,ENST00000535944,;DISC1,missense_variant,p.Ser447Cys,ENST00000295051,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602567,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;DISC1,3_prime_UTR_variant,,ENST00000422590,;DISC1,3_prime_UTR_variant,,ENST00000602822,;DISC1,3_prime_UTR_variant,,ENST00000602713,;DISC1,3_prime_UTR_variant,,ENST00000602700,;DISC1,3_prime_UTR_variant,,ENST00000366632,;	T	ENST00000366633	Transcript	missense_variant	1392/2676	1339/2268	447/755	S/C	Agc/Tgc		1		1	DISC1	HGNC	HGNC:2888	protein_coding	YES	CCDS53482.1	ENSP00000355593	Q9NRI5		UPI0001A61692	NM_001164539.1	deleterious(0.03)		5/10		hmmpanther:PTHR14332,hmmpanther:PTHR14332:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	231767210	231767210	A	T	1	0	0	0	0	1	0	0	0	4344	188	7	4		4	DISC1	1	231767210	Missense_Mutation	SNP	A	C3N-00560_TP	73095	231767210	17189212	143	18082											
ARID4B	0	.	GRCh38	chr1	235220360	235220360	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaataggcttttcttctCttggtattatattcctctcc	6	19	4	12	0	4	0	1	0	3	0	7	0	5	0	3	2	0	2	3	2	5	9	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1349G>T	p.Arg450Ile	p.R450I	ENST00000264183	15/24	98	34	64	141	141	0	strelka-varscan-mutect	ARID4B,missense_variant,p.Arg450Ile,ENST00000264183,NM_016374.5;ARID4B,missense_variant,p.Arg450Ile,ENST00000366603,NM_001206794.1;ARID4B,missense_variant,p.Arg450Ile,ENST00000349213,NM_031371.3;ARID4B,missense_variant,p.Arg450Ile,ENST00000418304,;ARID4B,missense_variant,p.Arg450Ile,ENST00000421364,;ARID4B,non_coding_transcript_exon_variant,,ENST00000471257,;ARID4B,non_coding_transcript_exon_variant,,ENST00000491632,;	A	ENST00000264183	Transcript	missense_variant	1847/6067	1349/3939	450/1312	R/I	aGa/aTa		1		-1	ARID4B	HGNC	HGNC:15550	protein_coding	YES	CCDS31061.1	ENSP00000264183	Q4LE39	A0A024R3R1	UPI00000437FE	NM_016374.5	deleterious(0.02)		15/24		hmmpanther:PTHR13964:SF24,hmmpanther:PTHR13964																	MODERATE	1	SNV	1			1										PASS		rs1238160583	.												A	3	1	57	235220360	235220360	C	A	1	0	0	0	0	1	0	0	0	1056	913	32	2		2	ARID4B	1	235220360	Missense_Mutation	SNP	C	C3N-00560_TP	3453150	235220360	13736062	144	18083											
LYST	0	.	GRCh38	chr1	235808598	235808598	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgctaattcaactcctctTtggagcacaggattaaatat	12	14	7	8	0	2	0	1	0	1	0	3	2	3	2	1	2	3	2	1	2	5	5	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.2220A>T	p.Gln740His	p.Q740H	ENST00000389793	5/53	224	90	134	205	205	0	strelka-varscan-mutect	LYST,missense_variant,p.Gln740His,ENST00000389793,NM_000081.3,NM_001301365.1;LYST,missense_variant,p.Gln740His,ENST00000389794,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;LYST,non_coding_transcript_exon_variant,,ENST00000465349,;	A	ENST00000389793	Transcript	missense_variant	2395/13480	2220/11406	740/3801	Q/H	caA/caT		1		-1	LYST	HGNC	HGNC:1968	protein_coding	YES	CCDS31062.1	ENSP00000374443	Q99698		UPI000020509E	NM_000081.3,NM_001301365.1	tolerated(0.14)		5/53		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF86,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	235808598	235808598	T	A	1	0	0	0	0	1	0	0	0	9041	1838	64	4		4	LYST	1	235808598	Missense_Mutation	SNP	T	C3N-00560_TP	588238	235808598	13147824	145	18084											
NID1	0	.	GRCh38	chr1	236048715	236048715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttctggtctgggtccctgCtgggcccttggtagggggcc	1	12	16	12	0	2	0	0	0	2	0	3	0	3	0	3	6	1	2	3	6	1	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.500G>T	p.Ser167Ile	p.S167I	ENST00000264187	2/20	216	79	137	209	209	0	strelka-varscan-mutect	NID1,missense_variant,p.Ser167Ile,ENST00000264187,NM_002508.2;NID1,missense_variant,p.Ser167Ile,ENST00000366595,;	A	ENST00000264187	Transcript	missense_variant	583/5864	500/3744	167/1247	S/I	aGc/aTc		1		-1	NID1	HGNC	HGNC:7821	protein_coding	YES	CCDS1608.1	ENSP00000264187	P14543		UPI000013D4D9	NM_002508.2	tolerated(0.07)		2/20		PROSITE_profiles:PS51220,SMART_domains:SM00539																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	236048715	236048715	C	A	1	0	0	0	0	1	0	0	0	10447	797	28	2		2	NID1	1	236048715	Missense_Mutation	SNP	C	C3N-00560_TP	240117	236048715	12907707	146	18085											
ACTN2	0	.	GRCh38	chr1	236757588	236757588	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgcgaagggcatcacccagGagcagatgaatgagttcaga	14	6	13	8	1	2	4	2	2	0	2	2	6	2	5	1	2	2	3	1	2	2	1			C3N-00560_TP	C3N-00560_NB	G	G																c.2257G>T	p.Glu753Ter	p.E753*	ENST00000542672	18/21	477	183	294	441	441	0	strelka-varscan-mutect	ACTN2,stop_gained,p.Glu545Ter,ENST00000546208,NM_001278344.1;ACTN2,stop_gained,p.Glu753Ter,ENST00000542672,NM_001278343.1;ACTN2,stop_gained,p.Glu753Ter,ENST00000366578,NM_001103.3;ACTN2,non_coding_transcript_exon_variant,,ENST00000461367,;	T	ENST00000542672	Transcript	stop_gained	2477/4906	2257/2685	753/894	E/*	Gag/Tag	COSM137805	1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1			18/21		Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,Superfamily_domains:SSF47473											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	57	236757588	236757588	G	T	1	0	0	0	0	0	1	0	0	249	1175	41	2		2	ACTN2	1	236757588	Nonsense_Mutation	SNP	G	C3N-00560_TP	708873	236757588	12198834	147	18086											
RYR2	0	.	GRCh38	chr1	237610823	237610824	+	Frame_Shift_Ins	INS	-	-	CC																															aagaaccccgtgccgcagtgINSccccccgcgcctccacgtgc																								rs766543639		C3N-00560_TP	C3N-00560_NB	-	-																c.4750_4751dupCC	p.Leu1586AlafsTer20	p.L1586Afs*20	ENST00000366574	36/105	204	73	131	172	169	3	sindel-varindel-pindel	RYR2,frameshift_variant,p.Leu1586AlafsTer20,ENST00000366574,NM_001035.2;RYR2,frameshift_variant,p.Leu1570AlafsTer20,ENST00000360064,;	CC	ENST00000366574	Transcript	frameshift_variant	5062-5063/16562	4745-4746/14904	1582/4967	C/CX	tgc/tgCCc	rs766543639	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			36/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	HIGH	1	insertion	1	6		1										PASS		.	.												CC	7	5	57	237610823	237610823	-	CC	1	0	1	1	0	0	0	0	0	14029	1319	46	0		0	RYR2	1	237610823	Frame_Shift_Ins	INS	-	C3N-00560_TP	853235	237610823	11345599	148	18087											
RYR2	0	.	GRCh38	chr1	237784311	237784311	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggacaccatctttgaaaTgcagctggcggctcagatct	10	9	11	11	2	3	2	1	1	2	1	3	4	3	3	1	3	2	3	1	3	1	1	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.12599T>A	p.Met4200Lys	p.M4200K	ENST00000366574	90/105	293	116	177	269	269	0	strelka-varscan-mutect	RYR2,missense_variant,p.Met4200Lys,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Met4184Lys,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	A	ENST00000366574	Transcript	missense_variant	12916/16562	12599/14904	4200/4967	M/K	aTg/aAg		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		90/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	237784311	237784311	T	A	1	0	0	0	0	1	0	0	0	14029	1464	51	4		4	RYR2	1	237784311	Missense_Mutation	SNP	T	C3N-00560_TP	173488	237784311	11172111	149	18088											
CHRM3	0	.	GRCh38	chr1	239907736	239907736	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaattgtgtcatttaaggtCaacaagcagctgaagacggt	13	11	11	6	1	2	2	2	1	0	1	2	2	2	2	0	2	3	3	0	2	5	4	rs781176638		C3N-00560_TP	C3N-00560_NB	C	C																c.285C>G	p.=	p.V95V	ENST00000255380	5/5	241	145	96	352	352	0	strelka-varscan-mutect	CHRM3,synonymous_variant,p.=,ENST00000255380,NM_000740.2;CHRM3,synonymous_variant,p.=,ENST00000615928,;CHRM3,synonymous_variant,p.=,ENST00000448020,;	G	ENST00000255380	Transcript	synonymous_variant	1064/8780	285/1773	95/590	V	gtC/gtG	rs781176638	1		1	CHRM3	HGNC	HGNC:1952	protein_coding	YES	CCDS1616.1	ENSP00000255380	P20309	A0A024R3S2	UPI0000050453	NM_000740.2			5/5		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00243,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF61,SMART_domains:SM01381,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		rs781176638	.												G	2	3	57	239907736	239907736	C	G	1	0	0	0	0	0	0	0	1	3138	813	29	4		4	CHRM3	1	239907736	Silent	SNP	C	C3N-00560_TP	2123425	239907736	9048686	150	18089											
CHRM3	0	.	GRCh38	chr1	239907837	239907837	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgtttacgacctacaTcatcatgaatcgatgggcct	11	12	8	10	2	3	1	2	1	1	0	4	4	3	1	2	1	2	1	2	1	4	3	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.386T>C	p.Ile129Thr	p.I129T	ENST00000255380	5/5	165	127	38	206	206	0	strelka-varscan-mutect	CHRM3,missense_variant,p.Ile129Thr,ENST00000255380,NM_000740.2;CHRM3,missense_variant,p.Ile129Thr,ENST00000615928,;CHRM3,downstream_gene_variant,,ENST00000448020,;	C	ENST00000255380	Transcript	missense_variant	1165/8780	386/1773	129/590	I/T	aTc/aCc		1		1	CHRM3	HGNC	HGNC:1952	protein_coding	YES	CCDS1616.1	ENSP00000255380	P20309	A0A024R3S2	UPI0000050453	NM_000740.2	deleterious(0)		5/5		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF61,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	239907837	239907837	T	C	1	0	0	0	0	1	0	0	0	3138	1435	50	5		5	CHRM3	1	239907837	Missense_Mutation	SNP	T	C3N-00560_TP	101	239907837	9048585	151	18090											
FMN2	0	.	GRCh38	chr1	240206907	240206908	+	Frame_Shift_Ins	INS	-	-	C																															actagagaggcagtatcctgINSccctggacacagaggtggcc																								novel		C3N-00560_TP	C3N-00560_NB	-	-																c.2098dupC	p.Leu700ProfsTer13	p.L700Pfs*13	ENST00000319653	5/18	177	101	76	260	260	0	sindel-varindel-pindel	FMN2,frameshift_variant,p.Leu700ProfsTer13,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,frameshift_variant,p.Leu137ProfsTer13,ENST00000447095,;	C	ENST00000319653	Transcript	frameshift_variant	2325-2326/6434	2095-2096/5169	699/1722	A/AX	gcc/gCcc		1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4			5/18		Coiled-coils_(Ncoils):Coil																	HIGH	1	insertion	5	3		1										PASS		.	.												C	7	5	57	240206907	240206907	-	C	1	0	1	1	0	0	0	0	0	5806	1319	46	0		0	FMN2	1	240206907	Frame_Shift_Ins	INS	-	C3N-00560_TP	299070	240206907	8749515	152	18091											
FMN2	0	.	GRCh38	chr1	240207892	240207892	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcctccaccccctctacccgGagcgggcataccccctccgc	5	6	7	23	3	1	0	0	0	1	0	4	1	4	1	8	2	3	1	8	2	2	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3080G>C	p.Gly1027Ala	p.G1027A	ENST00000319653	5/18	61	49	12	91	91	0	varscan-mutect	FMN2,missense_variant,p.Gly1027Ala,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;	C	ENST00000319653	Transcript	missense_variant	3310/6434	3080/5169	1027/1722	G/A	gGa/gCa		1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4	tolerated_low_confidence(0.4)		5/18		Pfam_domain:PF06346,Prints_domain:PR01217,Low_complexity_(Seg):seg,SMART_domains:SM00498																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	57	240207892	240207892	G	C	1	0	0	0	0	1	0	0	0	5806	1174	41	4		4	FMN2	1	240207892	Missense_Mutation	SNP	G	C3N-00560_TP	985	240207892	8748530	153	18092											
PLD5	0	.	GRCh38	chr1	242220070	242220070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaaggaggactgcagcCggcccttgttgtaagcggtc	8	8	14	11	2	0	1	0	0	0	1	2	3	1	3	3	4	3	3	3	4	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.653G>T	p.Arg218Leu	p.R218L	ENST00000536534	5/10	184	113	71	243	243	0	strelka-varscan-mutect	PLD5,missense_variant,p.Arg218Leu,ENST00000536534,;PLD5,missense_variant,p.Arg218Leu,ENST00000442594,NM_001320272.1,NM_152666.2;PLD5,missense_variant,p.Arg156Leu,ENST00000427495,NM_001195812.1,NM_001195811.1;PLD5,3_prime_UTR_variant,,ENST00000314833,;PLD5,3_prime_UTR_variant,,ENST00000366545,;PLD5,3_prime_UTR_variant,,ENST00000467561,;	A	ENST00000536534	Transcript	missense_variant	895/8721	653/1611	218/536	R/L	cGg/cTg		1		-1	PLD5	HGNC	HGNC:26879	protein_coding	YES	CCDS1621.2	ENSP00000440896	Q8N7P1		UPI000040E1A4		tolerated(0.72)		5/10		hmmpanther:PTHR10185:SF9,hmmpanther:PTHR10185,Gene3D:3.30.870.10,SMART_domains:SM00155,Superfamily_domains:SSF56024																	MODERATE	1	SNV	1			1										PASS		rs1161348547	.												A	3	1	57	242220070	242220070	C	A	1	0	0	0	0	1	0	0	0	12143	652	23	1		1	PLD5	1	242220070	Missense_Mutation	SNP	C	C3N-00560_TP	2012178	242220070	6736352	154	18093											
PLD5	0	.	GRCh38	chr1	242288428	242288428	+	Frame_Shift_Del	DEL	G	G	-																															actatgtcaacagactttttGgccatgttgagtaaattcat																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.429delC	p.Lys145SerfsTer5	p.K145Sfs*5	ENST00000536534	3/10	121	74	47	152	152	0	sindel-varindel-pindel	PLD5,frameshift_variant,p.Lys145SerfsTer5,ENST00000536534,;PLD5,frameshift_variant,p.Lys145SerfsTer5,ENST00000442594,NM_001320272.1,NM_152666.2;PLD5,frameshift_variant,p.Lys83SerfsTer5,ENST00000427495,NM_001195812.1,NM_001195811.1;PLD5,frameshift_variant,p.Lys83SerfsTer5,ENST00000459864,;PLD5,frameshift_variant,p.Lys145SerfsTer5,ENST00000467561,;PLD5,3_prime_UTR_variant,,ENST00000366545,;PLD5,intron_variant,,ENST00000314833,;	-	ENST00000536534	Transcript	frameshift_variant	671/8721	429/1611	143/536	A/X	gcC/gc		1		-1	PLD5	HGNC	HGNC:26879	protein_coding	YES	CCDS1621.2	ENSP00000440896	Q8N7P1		UPI000040E1A4				3/10		hmmpanther:PTHR10185:SF9,hmmpanther:PTHR10185,Gene3D:3.30.870.10,Superfamily_domains:SSF56024																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	57	242288428	242288428	G	-	1	0	1	0	1	0	0	0	0	12143	1335	47	0		0	PLD5	1	242288428	Frame_Shift_Del	DEL	G	C3N-00560_TP	68358	242288428	6667994	155	18094											
ADSS	0	.	GRCh38	chr1	244417726	244417726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttacaccaaactctctaccCcttgtttgtaataattctcc	10	15	3	13	0	2	0	0	0	2	0	4	0	2	0	4	0	3	3	4	0	5	7	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.972G>T	p.Arg324Ser	p.R324S	ENST00000366535	10/13	91	46	45	142	142	0	strelka-varscan-mutect	ADSS,missense_variant,p.Arg324Ser,ENST00000366535,NM_001126.3;ADSS,non_coding_transcript_exon_variant,,ENST00000468215,;ADSS,downstream_gene_variant,,ENST00000462358,;	A	ENST00000366535	Transcript	missense_variant	1289/2780	972/1371	324/456	R/S	agG/agT		1		-1	ADSS	HGNC	HGNC:292	protein_coding	YES	CCDS1624.1	ENSP00000355493	P30520	A0A024R5Q7	UPI0000132AF5	NM_001126.3	tolerated(0.6)		10/13		HAMAP:MF_00011,HAMAP:MF_03127,hmmpanther:PTHR11846:SF1,hmmpanther:PTHR11846,Pfam_domain:PF00709,TIGRFAM_domain:TIGR00184,Gene3D:2v40A03,SMART_domains:SM00788,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	244417726	244417726	C	A	1	0	0	0	0	1	0	0	0	421	622	22	2		2	ADSS	1	244417726	Missense_Mutation	SNP	C	C3N-00560_TP	2129298	244417726	4538696	156	18095											
OR2G3	0	.	GRCh38	chr1	247605739	247605739	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	taatcatcatctcatatctgGatccccctcttcatacccca	10	13	2	16	0	6	0	4	0	3	0	8	1	7	1	4	1	1	0	4	1	3	4			C3N-00560_TP	C3N-00560_NB	G	G																c.154G>C	p.Asp52His	p.D52H	ENST00000320002	1/1	151	97	54	217	217	0	strelka-varscan-mutect	OR2G3,missense_variant,p.Asp52His,ENST00000320002,NM_001001914.1;U6,downstream_gene_variant,,ENST00000637707,;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;	C	ENST00000320002	Transcript	missense_variant	154/930	154/930	52/309	D/H	Gat/Cat	COSM262578	1		1	OR2G3	HGNC	HGNC:15008	protein_coding	YES	CCDS31093.1	ENSP00000326301	Q8NGZ4	A0A126GVX0	UPI0000041CD9	NM_001001914.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF300,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						MODERATE		SNV			1	1										PASS		.	.												C	3	2	57	247605739	247605739	G	C	1	0	0	0	0	1	0	0	0	11077	1174	41	4		4	OR2G3	1	247605739	Missense_Mutation	SNP	G	C3N-00560_TP	3188013	247605739	1350683	157	18096											
OR2M2	0	.	GRCh38	chr1	248180658	248180658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcgagttattctggctGtcattcacatgggatctgga	8	14	11	8	1	4	0	2	0	2	0	5	3	4	2	0	3	1	3	0	3	1	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.673G>T	p.Val225Phe	p.V225F	ENST00000359682	1/1	352	199	153	512	511	1	strelka-varscan-mutect	OR2M2,missense_variant,p.Val225Phe,ENST00000359682,NM_001004688.1;	T	ENST00000359682	Transcript	missense_variant	673/1044	673/1044	225/347	V/F	Gtc/Ttc		1		1	OR2M2	HGNC	HGNC:8268	protein_coding	YES	CCDS31106.1	ENSP00000352710	Q96R28	A0A126GWI7	UPI00001612E4	NM_001004688.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF28,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	57	248180658	248180658	G	T	1	0	0	0	0	1	0	0	0	11088	1377	48	2		2	OR2M2	1	248180658	Missense_Mutation	SNP	G	C3N-00560_TP	574919	248180658	775764	158	18097											
OR2T3	0	.	GRCh38	chr1	248473806	248473806	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagctcctggtgtcagcCtgctgggttttgggaatggt	4	13	15	9	0	1	0	1	0	0	0	2	1	2	1	3	4	4	3	3	4	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.456C>A	p.=	p.A152A	ENST00000359594	1/1	44	40	4	88	88	0	varscan-mutect	OR2T3,synonymous_variant,p.=,ENST00000359594,NM_001005495.1;	A	ENST00000359594	Transcript	synonymous_variant	456/957	456/957	152/318	A	gcC/gcA		1		1	OR2T3	HGNC	HGNC:14727	protein_coding	YES	CCDS31117.1	ENSP00000352604	Q8NH03	A0A126GVW5	UPI00001D7CA5	NM_001005495.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF4,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	57	248473806	248473806	C	A	1	0	0	0	0	0	0	0	1	11100	668	24	2		2	OR2T3	1	248473806	Silent	SNP	C	C3N-00560_TP	293148	248473806	482616	159	18098											
OR2T34	0	.	GRCh38	chr1	248574302	248574302	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accattcccaaaacccagcaGgctgacaccaggagctggca	13	4	9	15	0	0	1	0	1	0	0	1	2	1	2	4	3	3	4	4	3	2	1	rs763747813		C3N-00560_TP	C3N-00560_NB	G	G																c.456C>A	p.=	p.A152A	ENST00000328782	1/1	95	55	40	146	146	0	strelka-varscan-mutect	OR2T34,synonymous_variant,p.=,ENST00000328782,NM_001001821.1;	T	ENST00000328782	Transcript	synonymous_variant	456/957	456/957	152/318	A	gcC/gcA	rs763747813	1		-1	OR2T34	HGNC	HGNC:31256	protein_coding	YES	CCDS31120.1	ENSP00000330904	Q8NGX1		UPI0000061ED4	NM_001001821.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs763747813	.												T	2	4	57	248574302	248574302	G	T	1	0	0	0	0	0	0	0	1	11102	987	35	2		2	OR2T34	1	248574302	Silent	SNP	G	C3N-00560_TP	100496	248574302	382120	160	18099											
FAM110C	0	.	GRCh38	chr2	46189	46189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccccgggcacttgatcgccCccgggccgctgccctcggaa	4	6	12	19	5	0	1	0	1	0	0	3	2	1	2	6	3	1	2	6	3	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.197G>T	p.Gly66Val	p.G66V	ENST00000327669	1/2	52	33	19	28	28	0	strelka-varscan-mutect	FAM110C,missense_variant,p.Gly66Val,ENST00000327669,NM_001077710.2;FAM110C,intron_variant,,ENST00000461026,;FAM110C,upstream_gene_variant,,ENST00000460464,;	A	ENST00000327669	Transcript	missense_variant	197/3760	197/966	66/321	G/V	gGg/gTg		1		-1	FAM110C	HGNC	HGNC:33340	protein_coding	YES	CCDS42645.1	ENSP00000328347	Q1W6H9		UPI0000579458	NM_001077710.2	tolerated(0.33)		1/2		hmmpanther:PTHR14758:SF5,hmmpanther:PTHR14758																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	46189	46189	C	A	1	0	0	0	0	1	0	0	0	5262	623	22	2		2	FAM110C	2	46189	Missense_Mutation	SNP	C	C3N-00560_TP		46189	242147340	161	18100											
MYT1L	0	.	GRCh38	chr2	1922533	1922533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccgagttcacagaggtGgtatcgtcgtcccgctcatg	6	11	12	12	4	2	1	2	0	0	1	6	2	4	1	2	2	0	3	2	2	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1236C>T	p.=	p.T412T	ENST00000399161	10/25	356	286	70	366	366	0	strelka-varscan-mutect	MYT1L,synonymous_variant,p.=,ENST00000399161,NM_001303052.1;MYT1L,synonymous_variant,p.=,ENST00000428368,NM_015025.3;MYT1L,synonymous_variant,p.=,ENST00000602387,;	A	ENST00000399161	Transcript	synonymous_variant	1984/7063	1236/3561	412/1186	T	acC/acT		1		-1	MYT1L	HGNC	HGNC:7623	protein_coding	YES	CCDS77378.1	ENSP00000382114	Q9UL68		UPI0000140B19	NM_001303052.1			10/25		hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF11																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	1922533	1922533	G	A	1	0	0	0	0	0	0	0	1	10106	1335	47	3		3	MYT1L	2	1922533	Silent	SNP	G	C3N-00560_TP	1876344	1922533	240270996	162	18101											
TSSC1	0	.	GRCh38	chr2	3192437	3192437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagaacggtggtcctcCtggtcactgatgtcatcgtc	6	13	10	12	2	4	2	3	1	1	1	8	2	6	2	2	3	1	0	2	3	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.966G>T	p.Gln322His	p.Q322H	ENST00000382125	8/9	86	68	18	79	79	0	strelka-varscan-mutect	TSSC1,missense_variant,p.Gln349His,ENST00000398659,;TSSC1,missense_variant,p.Gln322His,ENST00000382125,NM_003310.2;TSSC1,missense_variant,p.Gln171His,ENST00000441271,;TSSC1,non_coding_transcript_exon_variant,,ENST00000478754,;TSSC1,downstream_gene_variant,,ENST00000463662,;TSSC1,3_prime_UTR_variant,,ENST00000455162,;TSSC1,non_coding_transcript_exon_variant,,ENST00000496433,;TSSC1,downstream_gene_variant,,ENST00000435721,;TSSC1,downstream_gene_variant,,ENST00000482570,;TSSC1,downstream_gene_variant,,ENST00000470625,;	A	ENST00000382125	Transcript	missense_variant	1159/1766	966/1164	322/387	Q/H	caG/caT		1		-1	TSSC1	HGNC	HGNC:12383	protein_coding	YES	CCDS1651.1	ENSP00000371559	Q53HC9		UPI000006DFE1	NM_003310.2	tolerated(0.11)		8/9		hmmpanther:PTHR14205:SF15,hmmpanther:PTHR14205,Gene3D:2.130.10.10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	3192437	3192437	C	A	1	0	0	0	0	1	0	0	0	17174	680	24	2		2	TSSC1	2	3192437	Missense_Mutation	SNP	C	C3N-00560_TP	1269904	3192437	239001092	163	18102											
ADAM17	0	.	GRCh38	chr2	9509983	9509983	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgacacacacataccttaTtgttctcgtgatcgccactc	9	12	5	15	3	1	1	0	1	1	0	5	2	1	1	2	0	1	1	2	0	2	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1340A>G	p.Asn447Ser	p.N447S	ENST00000310823	11/19	128	76	52	96	96	0	strelka-varscan-mutect	ADAM17,missense_variant,p.Asn447Ser,ENST00000310823,NM_003183.4;RP11-400L8.2,intron_variant,,ENST00000480764,;RP11-400L8.2,intron_variant,,ENST00000472619,;	C	ENST00000310823	Transcript	missense_variant	1523/4349	1340/2475	447/824	N/S	aAt/aGt		1		-1	ADAM17	HGNC	HGNC:195	protein_coding	YES	CCDS1665.1	ENSP00000309968	P78536	B2RNB2	UPI00001254D4	NM_003183.4	deleterious(0.05)		11/19		PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF152,Pfam_domain:PF13688,Gene3D:3.40.390.10,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	9509983	9509983	T	C	1	0	0	0	0	1	0	0	0	282	1507	52	5		5	ADAM17	2	9509983	Missense_Mutation	SNP	T	C3N-00560_TP	6317546	9509983	232683546	164	18103											
APOB	0	.	GRCh38	chr2	21005162	21005162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataatctgctttgtttttCaaactggcactccaagtggc	10	14	7	10	0	2	0	1	0	1	0	3	0	3	0	1	2	2	3	1	2	3	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.11706G>T	p.Leu3902Phe	p.L3902F	ENST00000233242	26/29	270	160	110	281	281	0	strelka-varscan-mutect	APOB,missense_variant,p.Leu3902Phe,ENST00000233242,NM_000384.2;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	A	ENST00000233242	Transcript	missense_variant	11834/14121	11706/13692	3902/4563	L/F	ttG/ttT		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	deleterious(0.03)		26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	21005162	21005162	C	A	1	0	0	0	0	1	0	0	0	907	825	29	2		2	APOB	2	21005162	Missense_Mutation	SNP	C	C3N-00560_TP	11495179	21005162	221188367	165	18104											
APOB	0	.	GRCh38	chr2	21005786	21005786	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtctcctaccaatgctGgtggttacatccagctttag	7	14	9	11	0	1	0	0	0	1	0	3	0	2	0	3	2	5	4	3	2	4	4			C3N-00560_TP	C3N-00560_NB	G	G																c.11082C>A	p.=	p.T3694T	ENST00000233242	26/29	162	131	31	148	148	0	strelka-varscan-mutect	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	T	ENST00000233242	Transcript	synonymous_variant	11210/14121	11082/13692	3694/4563	T	acC/acA	COSM3962322	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1											1						LOW	1	SNV	1		1	1										PASS		rs1311037335	.												T	2	4	57	21005786	21005786	G	T	1	0	0	0	0	0	0	0	1	907	1335	47	2		2	APOB	2	21005786	Silent	SNP	G	C3N-00560_TP	624	21005786	221187743	166	18105											
APOB	0	.	GRCh38	chr2	21008338	21008338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatagcatttccaaaaaacaGcatttcactcccatgctccg	14	10	4	13	1	1	0	1	0	0	0	4	0	4	0	3	0	4	3	3	0	5	3			C3N-00560_TP	C3N-00560_NB	G	G																c.8530C>A	p.Leu2844Met	p.L2844M	ENST00000233242	26/29	120	78	42	129	129	0	strelka-varscan-mutect	APOB,missense_variant,p.Leu2844Met,ENST00000233242,NM_000384.2;	T	ENST00000233242	Transcript	missense_variant	8658/14121	8530/13692	2844/4563	L/M	Ctg/Atg	COSM1015923	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	deleterious(0.05)		26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	57	21008338	21008338	G	T	1	0	0	0	0	1	0	0	0	907	962	34	2		2	APOB	2	21008338	Missense_Mutation	SNP	G	C3N-00560_TP	2552	21008338	221185191	167	18106											
APOB	0	.	GRCh38	chr2	21011394	21011394	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtaggctccttttaggttaCcagccacatgcagcttcagg	8	11	11	11	0	1	0	1	0	0	0	2	0	2	0	3	4	4	5	3	4	3	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.5474G>T	p.Gly1825Val	p.G1825V	ENST00000233242	26/29	226	141	85	212	212	0	strelka-varscan-mutect	APOB,missense_variant,p.Gly1825Val,ENST00000233242,NM_000384.2;	A	ENST00000233242	Transcript	missense_variant	5602/14121	5474/13692	1825/4563	G/V	gGt/gTt		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	deleterious(0)		26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	21011394	21011394	C	A	1	0	0	0	0	1	0	0	0	907	507	18	2		2	APOB	2	21011394	Missense_Mutation	SNP	C	C3N-00560_TP	3056	21011394	221182135	168	18107											
EFR3B	0	.	GRCh38	chr2	25103658	25103658	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgtgtgcattgctatggaGgctttggaccagctgctcat	7	13	12	9	1	1	0	1	0	0	0	1	2	1	2	1	3	5	5	1	3	2	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.234G>A	p.=	p.E78E	ENST00000403714	4/23	130	112	18	97	97	0	strelka-varscan-mutect	EFR3B,synonymous_variant,p.=,ENST00000403714,NM_001319099.1,NM_014971.1;EFR3B,synonymous_variant,p.=,ENST00000401432,;EFR3B,synonymous_variant,p.=,ENST00000402191,;	A	ENST00000403714	Transcript	synonymous_variant	417/7434	234/2454	78/817	E	gaG/gaA		1		1	EFR3B	HGNC	HGNC:29155	protein_coding	YES	CCDS46231.1	ENSP00000384081	Q9Y2G0		UPI0000208069	NM_001319099.1,NM_014971.1			4/23		Gene3D:1.25.10.10,hmmpanther:PTHR12444,hmmpanther:PTHR12444:SF4,Superfamily_domains:SSF48371																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	57	25103658	25103658	G	A	1	0	0	0	0	0	0	0	1	4795	991	35	3		3	EFR3B	2	25103658	Silent	SNP	G	C3N-00560_TP	4092264	25103658	217089871	169	18108											
OTOF	0	.	GRCh38	chr2	26465989	26465989	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcttggagatgtagttctCcttgtcgcggatgtcagtct	5	15	12	9	2	3	1	1	0	2	1	5	3	3	2	1	2	1	3	1	2	1	4	rs769672854		C3N-00560_TP	C3N-00560_NB	C	C																c.4588G>T	p.Glu1530Ter	p.E1530*	ENST00000272371	37/47	788	474	314	718	718	0	strelka-varscan-mutect	OTOF,stop_gained,p.Glu1530Ter,ENST00000272371,NM_194248.2;OTOF,stop_gained,p.Glu1530Ter,ENST00000403946,NM_001287489.1;OTOF,stop_gained,p.Glu840Ter,ENST00000402415,NM_194322.2;OTOF,stop_gained,p.Glu763Ter,ENST00000338581,NM_004802.3;OTOF,stop_gained,p.Glu763Ter,ENST00000339598,NM_194323.2;OTOF,non_coding_transcript_exon_variant,,ENST00000464574,;	A	ENST00000272371	Transcript	stop_gained	4715/7156	4588/5994	1530/1997	E/*	Gag/Tag	rs769672854	1		-1	OTOF	HGNC	HGNC:8515	protein_coding	YES	CCDS1725.1	ENSP00000272371	Q9HC10		UPI000013D94D	NM_194248.2			37/47		PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562																	HIGH	1	SNV	1			1										PASS		rs769672854	.												A	4	1	57	26465989	26465989	C	A	1	0	0	0	0	0	1	0	0	11369	864	30	2		2	OTOF	2	26465989	Nonsense_Mutation	SNP	C	C3N-00560_TP	1362331	26465989	215727540	170	18109											
SLC35F6	0	.	GRCh38	chr2	26778073	26778073	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgatcctctccctgctGctggtgcccatgtactacat	5	15	8	13	0	1	1	0	1	1	0	3	1	2	1	3	1	5	3	3	1	2	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.678G>C	p.=	p.L226L	ENST00000344420	6/6	92	81	11	86	86	0	strelka-varscan-mutect	SLC35F6,synonymous_variant,p.=,ENST00000344420,NM_017877.3;SLC35F6,non_coding_transcript_exon_variant,,ENST00000482746,;CENPA,intron_variant,,ENST00000475662,;SLC35F6,3_prime_UTR_variant,,ENST00000429494,;SLC35F6,3_prime_UTR_variant,,ENST00000414029,;	C	ENST00000344420	Transcript	synonymous_variant	740/3898	678/1116	226/371	L	ctG/ctC		1		1	SLC35F6	HGNC	HGNC:26055	protein_coding	YES	CCDS1728.1	ENSP00000345528	Q8N357		UPI0000071B52	NM_017877.3			6/6		PIRSF_domain:PIRSF036436,hmmpanther:PTHR13146,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	57	26778073	26778073	G	C	1	0	0	0	0	0	0	0	1	14864	1306	46	4		4	SLC35F6	2	26778073	Silent	SNP	G	C3N-00560_TP	312084	26778073	215415456	171	18110											
GTF3C2	0	.	GRCh38	chr2	27333757	27333757	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctgtagcttgcatagaccCcacctgcagagttgccacac	9	9	9	14	0	1	2	0	0	1	2	1	2	1	2	4	0	4	5	4	0	2	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1630G>C	p.Gly544Arg	p.G544R	ENST00000359541	12/19	90	76	14	82	82	0	strelka-varscan-mutect	GTF3C2,missense_variant,p.Gly544Arg,ENST00000359541,NM_001318909.1;GTF3C2,missense_variant,p.Gly544Arg,ENST00000264720,NM_001521.3,NM_001035521.2;GTF3C2,missense_variant,p.Gly544Arg,ENST00000622534,;GTF3C2,missense_variant,p.Gly53Arg,ENST00000454704,;GTF3C2,upstream_gene_variant,,ENST00000457098,;GTF3C2-AS1,upstream_gene_variant,,ENST00000416453,;GTF3C2-AS1,upstream_gene_variant,,ENST00000625728,;GTF3C2-AS1,upstream_gene_variant,,ENST00000626256,;GTF3C2-AS1,upstream_gene_variant,,ENST00000585326,;GTF3C2-AS1,upstream_gene_variant,,ENST00000590383,;GTF3C2-AS1,upstream_gene_variant,,ENST00000592265,;GTF3C2-AS1,upstream_gene_variant,,ENST00000588707,;GTF3C2-AS1,upstream_gene_variant,,ENST00000608473,;GTF3C2-AS1,upstream_gene_variant,,ENST00000589853,;GTF3C2-AS1,upstream_gene_variant,,ENST00000587586,;GTF3C2-AS1,upstream_gene_variant,,ENST00000590754,;GTF3C2-AS1,upstream_gene_variant,,ENST00000585645,;GTF3C2-AS1,upstream_gene_variant,,ENST00000589232,;GTF3C2,upstream_gene_variant,,ENST00000415683,;GTF3C2,downstream_gene_variant,,ENST00000493511,;GTF3C2,downstream_gene_variant,,ENST00000470115,;GTF3C2,downstream_gene_variant,,ENST00000480989,;GTF3C2,upstream_gene_variant,,ENST00000484680,;	G	ENST00000359541	Transcript	missense_variant	2060/3992	1630/2736	544/911	G/R	Ggg/Cgg		1		-1	GTF3C2	HGNC	HGNC:4665	protein_coding	YES	CCDS1749.1	ENSP00000352536	Q8WUA4		UPI0000074025	NM_001318909.1	deleterious(0.02)		12/19		Gene3D:2.130.10.10,hmmpanther:PTHR15052,hmmpanther:PTHR15052:SF2,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	27333757	27333757	C	G	1	0	0	0	0	1	0	0	0	6754	623	22	4		4	GTF3C2	2	27333757	Missense_Mutation	SNP	C	C3N-00560_TP	555684	27333757	214859772	172	18111											
GCKR	0	.	GRCh38	chr2	27497385	27497385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaggaggggcaagccCtgtccacataccaggtaacc	11	5	12	13	0	0	0	0	0	0	0	2	2	2	2	5	5	3	2	5	5	3	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.202C>A	p.Leu68Met	p.L68M	ENST00000264717	2/19	455	272	183	385	384	1	strelka-varscan-mutect	GCKR,missense_variant,p.Leu68Met,ENST00000264717,NM_001486.3;GCKR,missense_variant,p.Leu40Met,ENST00000453813,;FNDC4,upstream_gene_variant,,ENST00000264703,NM_022823.2;GCKR,missense_variant,p.Leu68Met,ENST00000417872,;GCKR,non_coding_transcript_exon_variant,,ENST00000472290,;FNDC4,upstream_gene_variant,,ENST00000491414,;FNDC4,upstream_gene_variant,,ENST00000476197,;	A	ENST00000264717	Transcript	missense_variant	265/2186	202/1878	68/625	L/M	Ctg/Atg		1		1	GCKR	HGNC	HGNC:4196	protein_coding	YES	CCDS1757.1	ENSP00000264717		A0A0C4DFN2	UPI000013D55B	NM_001486.3	tolerated(0.92)		2/19		hmmpanther:PTHR10088,hmmpanther:PTHR10088:SF4,Gene3D:3.40.50.10490,Superfamily_domains:SSF53697																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	27497385	27497385	C	A	1	0	0	0	0	1	0	0	0	6164	680	24	2		2	GCKR	2	27497385	Missense_Mutation	SNP	C	C3N-00560_TP	163628	27497385	214696144	173	18112											
CAPN14	0	.	GRCh38	chr2	31200500	31200500	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttgtaggtggcttcgAtgaggatgtcccagaggttg	6	14	15	6	1	1	2	0	1	1	1	3	4	2	3	1	4	0	4	1	4	1	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.677T>A	p.Ile226Asn	p.I226N	ENST00000403897	6/22	137	103	34	121	121	0	strelka-varscan-mutect	CAPN14,missense_variant,p.Ile226Asn,ENST00000403897,NM_001145122.1;CAPN14,3_prime_UTR_variant,,ENST00000398824,NM_001321270.1;	T	ENST00000403897	Transcript	missense_variant	819/2197	677/2055	226/684	I/N	aTc/aAc		1		-1	CAPN14	HGNC	HGNC:16664	protein_coding	YES	CCDS46254.1	ENSP00000385247	A8MX76		UPI000173A463	NM_001145122.1	tolerated(0.12)		6/22		PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF302,hmmpanther:PTHR10183,Pfam_domain:PF00648,Gene3D:3.90.70.10,SMART_domains:SM00230,Superfamily_domains:SSF54001																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	31200500	31200500	A	T	1	0	0	0	0	1	0	0	0	2319	333	12	4		4	CAPN14	2	31200500	Missense_Mutation	SNP	A	C3N-00560_TP	3703115	31200500	210993029	174	18113											
SLC8A1	0	.	GRCh38	chr2	40139444	40139444	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaacacgactgcagtcacAgaatctttcaggccaatggt	13	8	9	11	2	3	1	2	0	1	1	3	3	3	1	1	2	2	1	1	2	3	1	rs112067970		C3N-00560_TP	C3N-00560_NB	A	A																c.2502T>A	p.=	p.S834S	ENST00000403092	10/11	269	225	44	234	234	0	strelka-varscan-mutect	SLC8A1,synonymous_variant,p.=,ENST00000406785,;SLC8A1,synonymous_variant,p.=,ENST00000403092,;SLC8A1,synonymous_variant,p.=,ENST00000405901,NM_001112800.1;SLC8A1,synonymous_variant,p.=,ENST00000402441,NM_001112802.1;SLC8A1,synonymous_variant,p.=,ENST00000405269,;SLC8A1,synonymous_variant,p.=,ENST00000332839,NM_021097.2;SLC8A1,synonymous_variant,p.=,ENST00000408028,NM_001112801.1,NM_001252624.1;SLC8A1,synonymous_variant,p.=,ENST00000406391,;SLC8A1-AS1,intron_variant,,ENST00000444629,;SLC8A1-AS1,intron_variant,,ENST00000625324,;SLC8A1-AS1,intron_variant,,ENST00000593848,;SLC8A1-AS1,intron_variant,,ENST00000625780,;SLC8A1-AS1,intron_variant,,ENST00000598247,;SLC8A1-AS1,intron_variant,,ENST00000593878,;SLC8A1-AS1,intron_variant,,ENST00000596532,;SLC8A1-AS1,intron_variant,,ENST00000625234,;SLC8A1-AS1,intron_variant,,ENST00000631022,;SLC8A1-AS1,intron_variant,,ENST00000599268,;SLC8A1-AS1,intron_variant,,ENST00000631142,;SLC8A1-AS1,intron_variant,,ENST00000628471,;SLC8A1-AS1,intron_variant,,ENST00000601679,;SLC8A1-AS1,intron_variant,,ENST00000435515,;SLC8A1-AS1,intron_variant,,ENST00000597385,;SLC8A1-AS1,intron_variant,,ENST00000627219,;SLC8A1-AS1,intron_variant,,ENST00000629329,;SLC8A1-AS1,intron_variant,,ENST00000599956,;SLC8A1-AS1,intron_variant,,ENST00000597170,;SLC8A1-AS1,intron_variant,,ENST00000629180,;SLC8A1-AS1,intron_variant,,ENST00000629157,;SLC8A1-AS1,intron_variant,,ENST00000631204,;SLC8A1-AS1,intron_variant,,ENST00000630783,;SLC8A1-AS1,intron_variant,,ENST00000625381,;SLC8A1-AS1,intron_variant,,ENST00000631137,;SLC8A1-AS1,intron_variant,,ENST00000627108,;SLC8A1-AS1,intron_variant,,ENST00000626098,;SLC8A1-AS1,intron_variant,,ENST00000631330,;SLC8A1-AS1,intron_variant,,ENST00000630006,;SLC8A1-AS1,intron_variant,,ENST00000599740,;SLC8A1,3_prime_UTR_variant,,ENST00000407929,;	T	ENST00000403092	Transcript	synonymous_variant	2536/3178	2502/2922	834/973	S	tcT/tcA	rs112067970	1		-1	SLC8A1	HGNC	HGNC:11068	protein_coding	YES	CCDS1806.1	ENSP00000384763	P32418		UPI000012FC46				10/11		Pfam_domain:PF01699,Prints_domain:PR01259,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,TIGRFAM_domain:TIGR00845,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs112067970	.												T	2	4	57	40139444	40139444	A	T	1	0	0	0	0	0	0	0	1	14989	175	7	4		4	SLC8A1	2	40139444	Silent	SNP	A	C3N-00560_TP	8938944	40139444	202054085	175	18114											
SLC8A1	0	.	GRCh38	chr2	40139676	40139676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catcgtcgtcatcatcttccCctagagagaatggaaggaag	12	9	10	10	2	3	2	2	0	1	2	6	5	4	4	2	2	0	0	2	2	4	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2270G>A	p.Gly757Glu	p.G757E	ENST00000403092	10/11	84	68	16	84	84	0	strelka-varscan-mutect	SLC8A1,missense_variant,p.Gly721Glu,ENST00000406785,;SLC8A1,missense_variant,p.Gly757Glu,ENST00000403092,;SLC8A1,missense_variant,p.Gly752Glu,ENST00000405901,NM_001112800.1;SLC8A1,missense_variant,p.Gly721Glu,ENST00000402441,NM_001112802.1;SLC8A1,missense_variant,p.Gly721Glu,ENST00000405269,;SLC8A1,missense_variant,p.Gly757Glu,ENST00000332839,NM_021097.2;SLC8A1,missense_variant,p.Gly749Glu,ENST00000408028,NM_001112801.1,NM_001252624.1;SLC8A1,missense_variant,p.Gly721Glu,ENST00000406391,;SLC8A1-AS1,intron_variant,,ENST00000444629,;SLC8A1-AS1,intron_variant,,ENST00000625324,;SLC8A1-AS1,intron_variant,,ENST00000593848,;SLC8A1-AS1,intron_variant,,ENST00000625780,;SLC8A1-AS1,intron_variant,,ENST00000598247,;SLC8A1-AS1,intron_variant,,ENST00000593878,;SLC8A1-AS1,intron_variant,,ENST00000596532,;SLC8A1-AS1,intron_variant,,ENST00000625234,;SLC8A1-AS1,intron_variant,,ENST00000631022,;SLC8A1-AS1,intron_variant,,ENST00000599268,;SLC8A1-AS1,intron_variant,,ENST00000631142,;SLC8A1-AS1,intron_variant,,ENST00000628471,;SLC8A1-AS1,intron_variant,,ENST00000601679,;SLC8A1-AS1,intron_variant,,ENST00000435515,;SLC8A1-AS1,intron_variant,,ENST00000597385,;SLC8A1-AS1,intron_variant,,ENST00000627219,;SLC8A1-AS1,intron_variant,,ENST00000629329,;SLC8A1-AS1,intron_variant,,ENST00000599956,;SLC8A1-AS1,intron_variant,,ENST00000597170,;SLC8A1-AS1,intron_variant,,ENST00000629180,;SLC8A1-AS1,intron_variant,,ENST00000629157,;SLC8A1-AS1,intron_variant,,ENST00000631204,;SLC8A1-AS1,intron_variant,,ENST00000630783,;SLC8A1-AS1,intron_variant,,ENST00000625381,;SLC8A1-AS1,intron_variant,,ENST00000631137,;SLC8A1-AS1,intron_variant,,ENST00000627108,;SLC8A1-AS1,intron_variant,,ENST00000626098,;SLC8A1-AS1,intron_variant,,ENST00000631330,;SLC8A1-AS1,intron_variant,,ENST00000630006,;SLC8A1-AS1,intron_variant,,ENST00000599740,;SLC8A1,splice_region_variant,,ENST00000407929,;	T	ENST00000403092	Transcript	missense_variant,splice_region_variant	2304/3178	2270/2922	757/973	G/E	gGg/gAg		1		-1	SLC8A1	HGNC	HGNC:11068	protein_coding	YES	CCDS1806.1	ENSP00000384763	P32418		UPI000012FC46		tolerated(0.07)		10/11		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00845																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	40139676	40139676	C	T	1	0	0	0	0	1	0	0	0	14989	637	22	3		3	SLC8A1	2	40139676	Missense_Mutation	SNP	C	C3N-00560_TP	232	40139676	202053853	176	18115											
SLC8A1	0	.	GRCh38	chr2	40164974	40164974	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcagtggctgcttgtcAtcatattcgtctgtgaaacg	7	14	11	9	2	4	1	3	1	1	0	5	1	4	1	0	2	2	2	0	2	2	3	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.2049T>A	p.Asp683Glu	p.D683E	ENST00000403092	8/11	148	120	28	129	128	1	strelka-varscan-mutect	SLC8A1,missense_variant,p.Asp647Glu,ENST00000406785,;SLC8A1,missense_variant,p.Asp683Glu,ENST00000403092,;SLC8A1,missense_variant,p.Asp678Glu,ENST00000405901,NM_001112800.1;SLC8A1,missense_variant,p.Asp647Glu,ENST00000402441,NM_001112802.1;SLC8A1,missense_variant,p.Asp647Glu,ENST00000405269,;SLC8A1,missense_variant,p.Asp683Glu,ENST00000332839,NM_021097.2;SLC8A1,missense_variant,p.Asp675Glu,ENST00000408028,NM_001112801.1,NM_001252624.1;SLC8A1,missense_variant,p.Asp647Glu,ENST00000406391,;SLC8A1-AS1,intron_variant,,ENST00000444629,;SLC8A1-AS1,intron_variant,,ENST00000625324,;SLC8A1-AS1,intron_variant,,ENST00000593848,;SLC8A1-AS1,intron_variant,,ENST00000625780,;SLC8A1-AS1,intron_variant,,ENST00000598247,;SLC8A1-AS1,intron_variant,,ENST00000593878,;SLC8A1-AS1,intron_variant,,ENST00000596532,;SLC8A1-AS1,intron_variant,,ENST00000625234,;SLC8A1-AS1,intron_variant,,ENST00000631022,;SLC8A1-AS1,intron_variant,,ENST00000599268,;SLC8A1-AS1,intron_variant,,ENST00000631142,;SLC8A1-AS1,intron_variant,,ENST00000628471,;SLC8A1-AS1,intron_variant,,ENST00000601679,;SLC8A1-AS1,intron_variant,,ENST00000435515,;SLC8A1-AS1,intron_variant,,ENST00000597385,;SLC8A1-AS1,intron_variant,,ENST00000627219,;SLC8A1-AS1,intron_variant,,ENST00000629329,;SLC8A1-AS1,intron_variant,,ENST00000599956,;SLC8A1-AS1,intron_variant,,ENST00000597170,;SLC8A1-AS1,intron_variant,,ENST00000629180,;SLC8A1-AS1,intron_variant,,ENST00000629157,;SLC8A1-AS1,intron_variant,,ENST00000631204,;SLC8A1-AS1,intron_variant,,ENST00000630783,;SLC8A1-AS1,intron_variant,,ENST00000625381,;SLC8A1-AS1,intron_variant,,ENST00000631137,;SLC8A1-AS1,intron_variant,,ENST00000627108,;SLC8A1-AS1,intron_variant,,ENST00000626098,;SLC8A1-AS1,intron_variant,,ENST00000631330,;SLC8A1-AS1,intron_variant,,ENST00000630006,;SLC8A1-AS1,intron_variant,,ENST00000599740,;SLC8A1,3_prime_UTR_variant,,ENST00000407929,;	T	ENST00000403092	Transcript	missense_variant	2083/3178	2049/2922	683/973	D/E	gaT/gaA		1		-1	SLC8A1	HGNC	HGNC:11068	protein_coding	YES	CCDS1806.1	ENSP00000384763	P32418		UPI000012FC46		tolerated(0.85)		8/11		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,Superfamily_domains:SSF141072,TIGRFAM_domain:TIGR00845																	MODERATE	1	SNV	1			1										PASS		rs879239752	.												T	3	4	57	40164974	40164974	A	T	1	0	0	0	0	1	0	0	0	14989	214	8	4		4	SLC8A1	2	40164974	Missense_Mutation	SNP	A	C3N-00560_TP	25298	40164974	202028555	177	18116											
SLC8A1	0	.	GRCh38	chr2	40429114	40429114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgtgcatgctgacagcCttccttgcttggtcagctgc	5	12	10	14	1	1	1	1	1	0	0	3	1	2	1	3	1	6	4	3	1	0	3	rs763837333		C3N-00560_TP	C3N-00560_NB	C	C																c.1167G>T	p.Lys389Asn	p.K389N	ENST00000403092	2/11	197	169	28	216	216	0	strelka-varscan-mutect	SLC8A1,missense_variant,p.Lys389Asn,ENST00000406785,;SLC8A1,missense_variant,p.Lys389Asn,ENST00000403092,;SLC8A1,missense_variant,p.Lys389Asn,ENST00000405901,NM_001112800.1;SLC8A1,missense_variant,p.Lys389Asn,ENST00000402441,NM_001112802.1;SLC8A1,missense_variant,p.Lys389Asn,ENST00000405269,;SLC8A1,missense_variant,p.Lys389Asn,ENST00000332839,NM_021097.2;SLC8A1,missense_variant,p.Lys389Asn,ENST00000408028,NM_001112801.1,NM_001252624.1;SLC8A1,missense_variant,p.Lys389Asn,ENST00000406391,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,missense_variant,p.Lys386Asn,ENST00000407929,;	A	ENST00000403092	Transcript	missense_variant	1201/3178	1167/2922	389/973	K/N	aaG/aaT	rs763837333	1		-1	SLC8A1	HGNC	HGNC:11068	protein_coding	YES	CCDS1806.1	ENSP00000384763	P32418		UPI000012FC46		deleterious(0.03)		2/11		Pfam_domain:PF16494,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,TIGRFAM_domain:TIGR00845																	MODERATE	1	SNV	1			1										PASS		rs763837333	.												A	3	1	57	40429114	40429114	C	A	1	0	0	0	0	1	0	0	0	14989	680	24	2		2	SLC8A1	2	40429114	Missense_Mutation	SNP	C	C3N-00560_TP	264140	40429114	201764415	178	18117											
EML4	0	.	GRCh38	chr2	42256587	42256587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaagtcataccagtgctGtctcaattgcaggaaaagaa	16	8	8	9	0	2	1	2	0	1	1	3	2	2	2	2	1	4	2	2	1	7	2	rs773766836		C3N-00560_TP	C3N-00560_NB	G	G																c.295G>C	p.Val99Leu	p.V99L	ENST00000318522	3/23	139	120	19	127	127	0	strelka-varscan-mutect	EML4,missense_variant,p.Val99Leu,ENST00000318522,NM_019063.4;EML4,missense_variant,p.Val99Leu,ENST00000401738,;EML4,missense_variant,p.Val99Leu,ENST00000402711,NM_001145076.2;EML4,non_coding_transcript_exon_variant,,ENST00000409040,;	C	ENST00000318522	Transcript	missense_variant	557/5549	295/2946	99/981	V/L	Gtc/Ctc	rs773766836	1		1	EML4	HGNC	HGNC:1316	protein_coding	YES	CCDS1807.1	ENSP00000320663	Q9HC35		UPI0000140350	NM_019063.4	tolerated(0.45)		3/23		hmmpanther:PTHR13720:SF11,hmmpanther:PTHR13720																	MODERATE	1	SNV	1			1										PASS		rs773766836	.												C	3	2	57	42256587	42256587	G	C	1	0	0	0	0	1	0	0	0	4942	1377	48	4		4	EML4	2	42256587	Missense_Mutation	SNP	G	C3N-00560_TP	1827473	42256587	199936942	179	18118											
DYNC2LI1	0	.	GRCh38	chr2	43776855	43776855	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgaaggtgatggagctGaaattgcagaaaaatttgtt	15	11	13	2	0	0	4	0	3	0	1	0	6	0	5	0	2	2	3	0	2	5	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.82G>T	p.Glu28Ter	p.E28*	ENST00000605786	2/13	94	71	23	137	137	0	strelka-varscan-mutect	DYNC2LI1,stop_gained,p.Glu28Ter,ENST00000398823,;DYNC2LI1,stop_gained,p.Glu28Ter,ENST00000260605,NM_016008.3;DYNC2LI1,stop_gained,p.Glu28Ter,ENST00000605786,NM_001193464.1;DYNC2LI1,stop_gained,p.Glu12Ter,ENST00000378587,;DYNC2LI1,stop_gained,p.Glu28Ter,ENST00000406852,NM_015522.3;RN7SKP66,upstream_gene_variant,,ENST00000516681,;DYNC2LI1,intron_variant,,ENST00000489222,;DYNC2LI1,stop_gained,p.Glu28Ter,ENST00000479242,;DYNC2LI1,stop_gained,p.Glu28Ter,ENST00000496980,;DYNC2LI1,synonymous_variant,p.=,ENST00000462426,;	T	ENST00000605786	Transcript	stop_gained	139/1346	82/1059	28/352	E/*	Gaa/Taa		1		1	DYNC2LI1	HGNC	HGNC:24595	protein_coding	YES	CCDS62903.1	ENSP00000474032	Q8TCX1		UPI00000704B1	NM_001193464.1			2/13		hmmpanther:PTHR13236																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	43776855	43776855	G	T	1	0	0	0	0	0	1	0	0	4671	1291	45	2		2	DYNC2LI1	2	43776855	Nonsense_Mutation	SNP	G	C3N-00560_TP	1520268	43776855	198416674	180	18119											
KCNK12	0	.	GRCh38	chr2	47521335	47521335	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcgagtaaatgcagcAcacgccgagcaggatgaaga	16	3	14	8	3	0	3	0	1	0	2	0	7	0	4	1	1	4	4	1	1	4	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.865T>A	p.Cys289Ser	p.C289S	ENST00000327876	2/2	214	173	41	189	189	0	strelka-varscan-mutect	KCNK12,missense_variant,p.Cys289Ser,ENST00000327876,NM_022055.1;MSH2,intron_variant,,ENST00000461394,;	T	ENST00000327876	Transcript	missense_variant	1473/6227	865/1293	289/430	C/S	Tgc/Agc		1		-1	KCNK12	HGNC	HGNC:6274	protein_coding	YES	CCDS1835.1	ENSP00000327611	Q9HB15		UPI000000DC4C	NM_022055.1	tolerated(0.06)		2/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF11,Pfam_domain:PF07885,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR01588																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	47521335	47521335	A	T	1	0	0	0	0	1	0	0	0	7977	159	6	4		4	KCNK12	2	47521335	Missense_Mutation	SNP	A	C3N-00560_TP	3744480	47521335	194672194	181	18120											
PPP1R21	0	.	GRCh38	chr2	48511340	48511340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctttttctttgctatttagGatgagctgacaactaccaag	10	16	7	8	0	2	2	0	2	2	0	2	3	2	3	1	1	4	2	1	1	5	7	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2185G>T	p.Asp729Tyr	p.D729Y	ENST00000294952	21/22	102	72	30	97	97	0	strelka-varscan-mutect	PPP1R21,missense_variant,p.Asp729Tyr,ENST00000294952,NM_001135629.2;PPP1R21,missense_variant,p.Asp718Tyr,ENST00000281394,NM_152994.4;PPP1R21,missense_variant,p.Asp687Tyr,ENST00000449090,NM_001193475.1;PPP1R21,splice_region_variant,,ENST00000476199,;PPP1R21,splice_region_variant,,ENST00000416913,;PPP1R21,splice_region_variant,,ENST00000431614,;	T	ENST00000294952	Transcript	missense_variant,splice_region_variant	2342/3142	2185/2343	729/780	D/Y	Gat/Tat		1		1	PPP1R21	HGNC	HGNC:30595	protein_coding	YES	CCDS46278.1	ENSP00000294952	Q6ZMI0		UPI000015C523	NM_001135629.2	deleterious(0)		21/22		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10212,hmmpanther:PTHR21448																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	48511340	48511340	G	T	1	0	0	0	0	1	0	0	0	12483	1188	41	2		2	PPP1R21	2	48511340	Missense_Mutation	SNP	G	C3N-00560_TP	990005	48511340	193682189	182	18121											
NRXN1	0	.	GRCh38	chr2	50621226	50621226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaatgtagtttgtttacCatagcgtgtccaatgcctga	11	13	9	8	1	0	1	0	1	0	0	1	2	1	1	3	0	4	3	3	0	6	5			C3N-00560_TP	C3N-00560_NB	C	C																c.1257G>T	p.Met419Ile	p.M419I	ENST00000404971	8/24	113	94	19	119	119	0	strelka-varscan-mutect	NRXN1,missense_variant,p.Met386Ile,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Met419Ile,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Met386Ile,ENST00000401669,;NRXN1,missense_variant,p.Met109Ile,ENST00000406859,;NRXN1,intron_variant,,ENST00000625672,;NRXN1,intron_variant,,ENST00000405472,;NRXN1,intron_variant,,ENST00000630543,;NRXN1,intron_variant,,ENST00000628515,;NRXN1,intron_variant,,ENST00000402717,;NRXN1,intron_variant,,ENST00000625891,;NRXN1,upstream_gene_variant,,ENST00000495871,;RP11-358H12.1,intron_variant,,ENST00000634985,;NRXN1,intron_variant,,ENST00000636298,;NRXN1,intron_variant,,ENST00000628761,;NRXN1,downstream_gene_variant,,ENST00000630431,;NRXN1,upstream_gene_variant,,ENST00000637605,;NRXN1,intron_variant,,ENST00000331040,;NRXN1,intron_variant,,ENST00000626249,;	A	ENST00000404971	Transcript	missense_variant	2597/7578	1257/4644	419/1547	M/I	atG/atT	COSM5287221,COSM5287222,COSM5287223	1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	deleterious(0.04)		8/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,SMART_domains:SM00282,Superfamily_domains:SSF49899											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	57	50621226	50621226	C	A	1	0	0	0	0	1	0	0	0	10724	594	21	2		2	NRXN1	2	50621226	Missense_Mutation	SNP	C	C3N-00560_TP	2109886	50621226	191572303	183	18122											
RTN4	0	.	GRCh38	chr2	55050274	55050274	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgtccgaggacgagacCagaggagactggtccaggtc	9	5	17	10	2	0	3	0	0	0	3	3	7	2	4	3	5	0	1	3	5	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.27G>T	p.=	p.L9L	ENST00000337526	1/9	37	24	13	32	32	0	strelka-mutect	RTN4,synonymous_variant,p.=,ENST00000337526,NM_020532.4;RTN4,synonymous_variant,p.=,ENST00000357732,NM_207520.1;RTN4,synonymous_variant,p.=,ENST00000317610,NM_153828.2;RTN4,intron_variant,,ENST00000394611,NM_001321860.1;RTN4,intron_variant,,ENST00000404909,NM_001321859.1;RTN4,intron_variant,,ENST00000402434,;RTN4,intron_variant,,ENST00000427710,;RTN4,upstream_gene_variant,,ENST00000357376,NM_001321861.1,NM_207521.1;RTN4,upstream_gene_variant,,ENST00000405240,NM_001321863.1;RTN4,upstream_gene_variant,,ENST00000438462,;	A	ENST00000337526	Transcript	synonymous_variant	271/4790	27/3579	9/1192	L	ctG/ctT		1		-1	RTN4	HGNC	HGNC:14085	protein_coding	YES	CCDS42684.1	ENSP00000337838	Q9NQC3		UPI000000D81D	NM_020532.4			1/9		hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF25																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	55050274	55050274	C	A	1	0	0	0	0	0	0	0	1	13988	581	21	2		2	RTN4	2	55050274	Silent	SNP	C	C3N-00560_TP	4429048	55050274	187143255	184	18123											
CCDC85A	0	.	GRCh38	chr2	56184656	56184656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggaggcgcggcggcggCtgcggcggcggcggaaagtt	4	3	23	11	9	0	0	0	0	0	0	0	2	0	2	1	10	1	2	1	10	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.32C>T	p.Ala11Val	p.A11V	ENST00000407595	1/6	112	82	30	109	109	0	strelka-varscan-mutect	CCDC85A,missense_variant,p.Ala11Val,ENST00000407595,NM_001080433.1;RP11-481J13.1,downstream_gene_variant,,ENST00000606639,;AC007743.1,non_coding_transcript_exon_variant,,ENST00000596663,;AC007743.1,non_coding_transcript_exon_variant,,ENST00000447423,;AC007743.1,intron_variant,,ENST00000432793,;RP11-482H16.1,intron_variant,,ENST00000607540,;	T	ENST00000407595	Transcript	missense_variant	534/3982	32/1662	11/553	A/V	gCt/gTt		1		1	CCDC85A	HGNC	HGNC:29400	protein_coding	YES	CCDS46290.1	ENSP00000384040	Q96PX6		UPI00001C1DC1	NM_001080433.1	tolerated_low_confidence(0.12)		1/6		hmmpanther:PTHR13546,hmmpanther:PTHR13546:SF16,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	56184656	56184656	C	T	1	0	0	0	0	1	0	0	0	2557	797	28	3		3	CCDC85A	2	56184656	Missense_Mutation	SNP	C	C3N-00560_TP	1134382	56184656	186008873	185	18124											
CLEC4F	0	.	GRCh38	chr2	70819828	70819828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcacagccataaatgccGgggtagcctgaacgagcctc	11	6	12	12	2	1	1	1	1	0	0	2	2	1	1	4	3	5	1	4	3	4	2			C3N-00560_TP	C3N-00560_NB	G	G																c.125C>A	p.Pro42Gln	p.P42Q	ENST00000272367	2/7	45	35	10	41	41	0	strelka-varscan-mutect	CLEC4F,missense_variant,p.Pro42Gln,ENST00000272367,NM_001258027.1,NM_173535.2;CLEC4F,missense_variant,p.Pro42Gln,ENST00000426626,;	T	ENST00000272367	Transcript	missense_variant	202/2475	125/1770	42/589	P/Q	cCg/cAg	COSM2997082	1		-1	CLEC4F	HGNC	HGNC:25357	protein_coding	YES	CCDS1910.1	ENSP00000272367	Q8N1N0		UPI0000376BCC	NM_001258027.1,NM_173535.2	deleterious(0.01)		2/7		Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	57	70819828	70819828	G	T	1	0	0	0	0	1	0	0	0	3284	1116	39	1		1	CLEC4F	2	70819828	Missense_Mutation	SNP	G	C3N-00560_TP	14635172	70819828	171373701	186	18125											
TET3	0	.	GRCh38	chr2	74092929	74092929	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgctccggaagagtttccagGacctggccaccgaagtcgct	8	8	12	13	3	0	1	0	0	0	1	3	4	2	3	5	3	1	3	5	3	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3067G>C	p.Asp1023His	p.D1023H	ENST00000409262	8/11	189	157	32	222	222	0	strelka-varscan-mutect	TET3,missense_variant,p.Asp1023His,ENST00000409262,NM_001287491.1;TET3,missense_variant,p.Asp930His,ENST00000305799,;	C	ENST00000409262	Transcript	missense_variant	3067/11388	3067/5388	1023/1795	D/H	Gac/Cac		1		1	TET3	HGNC	HGNC:28313	protein_coding	YES	CCDS46339.2	ENSP00000386869	O43151	K9JJH7	UPI0002A87FCB	NM_001287491.1	tolerated(0.12)		8/11		hmmpanther:PTHR23358:SF4,hmmpanther:PTHR23358,Pfam_domain:PF12851,SMART_domains:SM01333																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	74092929	74092929	G	C	1	0	0	0	0	1	0	0	0	16192	1174	41	4		4	TET3	2	74092929	Missense_Mutation	SNP	G	C3N-00560_TP	3273101	74092929	168100600	187	18126											
LOXL3	0	.	GRCh38	chr2	74536461	74536461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcgccgccctttagaCggacacgggcctatagaaga	9	6	15	11	4	0	3	0	0	0	3	0	4	0	4	3	4	0	0	3	4	4	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.923G>T	p.Arg308Leu	p.R308L	ENST00000264094	6/14	107	68	39	110	110	0	strelka-varscan-mutect	LOXL3,missense_variant,p.Arg308Leu,ENST00000264094,NM_032603.3;LOXL3,missense_variant,p.Arg308Leu,ENST00000409549,;LOXL3,missense_variant,p.Arg308Leu,ENST00000409249,;LOXL3,missense_variant,p.Arg163Leu,ENST00000393937,NM_001289164.1;LOXL3,missense_variant,p.Arg163Leu,ENST00000409986,;LOXL3,missense_variant,p.Arg35Leu,ENST00000420535,;HTRA2,downstream_gene_variant,,ENST00000258080,NM_013247.4;HTRA2,downstream_gene_variant,,ENST00000437202,;HTRA2,downstream_gene_variant,,ENST00000352222,NM_145074.2;LOXL3,downstream_gene_variant,,ENST00000413469,;LOXL3,non_coding_transcript_exon_variant,,ENST00000481835,;HTRA2,downstream_gene_variant,,ENST00000467961,;HTRA2,downstream_gene_variant,,ENST00000462909,;LOXL3,downstream_gene_variant,,ENST00000484369,;HTRA2,downstream_gene_variant,,ENST00000484881,;LOXL3,non_coding_transcript_exon_variant,,ENST00000470907,;HTRA2,downstream_gene_variant,,ENST00000484352,;HTRA2,downstream_gene_variant,,ENST00000482331,;	A	ENST00000264094	Transcript	missense_variant	995/3502	923/2262	308/753	R/L	cGt/cTt		1		-1	LOXL3	HGNC	HGNC:13869	protein_coding	YES	CCDS1953.1	ENSP00000264094	P58215		UPI0000044959	NM_032603.3	deleterious(0)		6/14		Gene3D:3.10.250.10,Prints_domain:PR00258,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF305,SMART_domains:SM00202,Superfamily_domains:SSF56487																	MODERATE	1	SNV	1			1										PASS		rs1315777875	.												A	3	1	57	74536461	74536461	C	A	1	0	0	0	0	1	0	0	0	8804	536	19	1		1	LOXL3	2	74536461	Missense_Mutation	SNP	C	C3N-00560_TP	443532	74536461	167657068	188	18127											
REG3G	0	.	GRCh38	chr2	79027055	79027055	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgccagaagcggcccTctggaaaactggtgtctgtg	7	10	14	10	1	2	1	0	0	2	1	2	2	2	2	2	4	3	1	2	4	3	1	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.217T>A	p.Ser73Thr	p.S73T	ENST00000272324	4/6	168	142	26	164	163	1	strelka-varscan-mutect	REG3G,missense_variant,p.Ser73Thr,ENST00000272324,NM_001008387.2;REG3G,missense_variant,p.Ser73Thr,ENST00000393897,NM_198448.3;REG3G,intron_variant,,ENST00000409471,NM_001270040.1;REG3G,non_coding_transcript_exon_variant,,ENST00000490944,;REG3G,downstream_gene_variant,,ENST00000498312,;	A	ENST00000272324	Transcript	missense_variant	401/938	217/528	73/175	S/T	Tct/Act		1		1	REG3G	HGNC	HGNC:29595	protein_coding	YES	CCDS1962.1	ENSP00000272324	Q6UW15		UPI0000048F1E	NM_001008387.2	deleterious(0)		4/6		PROSITE_profiles:PS50041,hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF60,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	79027055	79027055	T	A	1	0	0	0	0	1	0	0	0	13383	1551	54	4		4	REG3G	2	79027055	Missense_Mutation	SNP	T	C3N-00560_TP	4490594	79027055	163166474	189	18128											
REG3A	0	.	GRCh38	chr2	79158362	79158362	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccaatccagacgtatgaGtagctgttaccaatgctctt	11	11	8	11	1	1	2	0	1	1	1	2	2	2	2	3	0	4	5	3	0	5	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.297C>A	p.Tyr99Ter	p.Y99*	ENST00000393878	3/5	142	84	58	133	133	0	strelka-varscan-mutect	REG3A,stop_gained,p.Tyr99Ter,ENST00000393878,NM_138938.2;REG3A,stop_gained,p.Tyr99Ter,ENST00000409839,NM_002580.2,NM_138937.2;REG3A,stop_gained,p.Tyr99Ter,ENST00000305165,;AC011754.1,upstream_gene_variant,,ENST00000415201,;REG3A,downstream_gene_variant,,ENST00000464746,;REG3A,downstream_gene_variant,,ENST00000490901,;	T	ENST00000393878	Transcript	stop_gained	645/1095	297/528	99/175	Y/*	taC/taA		1		-1	REG3A	HGNC	HGNC:8601	protein_coding	YES	CCDS1965.1	ENSP00000377456	Q06141	Q53S56	UPI0000001C5B	NM_138938.2			3/5		PROSITE_profiles:PS50041,hmmpanther:PTHR22801:SF45,hmmpanther:PTHR22801,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504																	HIGH	1	SNV	1			1										PASS		rs1383969235	.												T	4	4	57	79158362	79158362	G	T	1	0	0	0	0	0	1	0	0	13382	1024	36	2		2	REG3A	2	79158362	Nonsense_Mutation	SNP	G	C3N-00560_TP	131307	79158362	163035167	190	18129											
CTNNA2	0	.	GRCh38	chr2	79744573	79744573	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctgctgtagaggatgtgCgcaaacaaggtaggcagaat	12	8	15	6	1	0	2	0	0	0	2	0	3	0	3	0	4	3	6	0	4	5	2	rs373818447		C3N-00560_TP	C3N-00560_NB	C	C																c.289C>G	p.Arg97Gly	p.R97G	ENST00000402739	2/18	91	75	16	99	99	0	strelka-varscan-mutect	CTNNA2,missense_variant,p.Arg97Gly,ENST00000466387,;CTNNA2,missense_variant,p.Arg97Gly,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Arg97Gly,ENST00000402739,NM_001282597.2;CTNNA2,missense_variant,p.Arg97Gly,ENST00000629316,NM_001164883.1;CTNNA2,missense_variant,p.Arg97Gly,ENST00000409971,;CTNNA2,downstream_gene_variant,,ENST00000451966,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000508970,;	G	ENST00000402739	Transcript	missense_variant	294/3684	289/2862	97/953	R/G	Cgc/Ggc	rs373818447,COSM3000679,COSM4315409	1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2	deleterious(0.02)		2/18		Gene3D:1.20.120.230,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01044,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Superfamily_domains:SSF47220											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs373818447	.												G	3	3	57	79744573	79744573	C	G	1	0	0	0	0	1	0	0	0	3822	768	27	4		4	CTNNA2	2	79744573	Missense_Mutation	SNP	C	C3N-00560_TP	586211	79744573	162448956	191	18130											
CTNNA2	0	.	GRCh38	chr2	79909607	79909607	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagaataagattatccTggaccccatgacgttcagcg	11	11	8	11	2	2	3	2	1	0	2	3	4	3	4	3	1	1	1	3	1	3	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.866T>A	p.Leu289Gln	p.L289Q	ENST00000402739	6/18	146	114	32	142	142	0	strelka-varscan-mutect	CTNNA2,missense_variant,p.Leu289Gln,ENST00000466387,;CTNNA2,missense_variant,p.Leu289Gln,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Leu289Gln,ENST00000402739,NM_001282597.2;CTNNA2,missense_variant,p.Leu289Gln,ENST00000629316,NM_001164883.1;	A	ENST00000402739	Transcript	missense_variant	871/3684	866/2862	289/953	L/Q	cTg/cAg		1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2	deleterious(0.04)		6/18		Pfam_domain:PF01044,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	79909607	79909607	T	A	1	0	0	0	0	1	0	0	0	3822	1580	55	4		4	CTNNA2	2	79909607	Missense_Mutation	SNP	T	C3N-00560_TP	165034	79909607	162283922	192	18131											
LRRTM1	0	.	GRCh38	chr2	80303560	80303560	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccacgtgagctgcattaacCccgtgaactggccggcgcgc	7	6	13	15	5	0	2	0	2	0	0	0	2	0	2	4	2	4	2	4	2	2	1	rs759656049		C3N-00560_TP	C3N-00560_NB	C	C																c.260G>C	p.Gly87Ala	p.G87A	ENST00000295057	2/2	237	208	29	276	276	0	strelka-varscan-mutect	LRRTM1,missense_variant,p.Gly87Ala,ENST00000295057,;LRRTM1,missense_variant,p.Gly87Ala,ENST00000409148,NM_178839.4;LRRTM1,missense_variant,p.Gly87Ala,ENST00000416268,;LRRTM1,missense_variant,p.Gly87Ala,ENST00000452811,;LRRTM1,missense_variant,p.Gly87Ala,ENST00000415098,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.2;CTNNA2,intron_variant,,ENST00000629316,NM_001164883.1;CTNNA2,upstream_gene_variant,,ENST00000541047,NM_001282600.1;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.Gly87Ala,ENST00000433224,;LRRTM1,missense_variant,p.Gly87Ala,ENST00000417012,;	G	ENST00000295057	Transcript	missense_variant	917/2599	260/1569	87/522	G/A	gGg/gCg	rs759656049	1		-1	LRRTM1	HGNC	HGNC:19408	protein_coding	YES	CCDS1966.1	ENSP00000295057	Q86UE6		UPI000013E1FE		tolerated(0.05)		2/2		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs759656049	.												G	3	3	57	80303560	80303560	C	G	1	0	0	0	0	1	0	0	0	8945	623	22	4		4	LRRTM1	2	80303560	Missense_Mutation	SNP	C	C3N-00560_TP	393953	80303560	161889969	193	18132											
SMYD1	0	.	GRCh38	chr2	88103123	88103123	+	Missense_Mutation	SNP	G	G	C																															acattggaaaagatagacaaGgctcgttccgagggtttgta																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.954G>C	p.Lys318Asn	p.K318N	ENST00000419482	7/10	117	109	8	131	131	0	strelka-varscan-mutect	SMYD1,missense_variant,p.Lys318Asn,ENST00000419482,NM_198274.3;SMYD1,missense_variant,p.Lys305Asn,ENST00000444564,;SMYD1,intron_variant,,ENST00000438570,;	C	ENST00000419482	Transcript	missense_variant	1039/4433	954/1473	318/490	K/N	aaG/aaC		1		1	SMYD1	HGNC	HGNC:20986	protein_coding	YES	CCDS33240.1	ENSP00000393453	Q8NB12	A0A0A6YYB2	UPI000006EB68	NM_198274.3	tolerated(0.06)		7/10		hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF184																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	88103123	88103123	G	C	1	0	0	0	0	1	0	0	0	15142	991	35	4		4	SMYD1	2	88103123	Missense_Mutation	SNP	G	C3N-00560_TP	7799563	88103123	154090406	194	18133	386	2									
SMYD1	0	.	GRCh38	chr2	88103124	88103124	+	Missense_Mutation	SNP	G	G	C																															cattggaaaagatagacaagGctcgttccgagggtttgtat																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.955G>C	p.Ala319Pro	p.A319P	ENST00000419482	7/10	118	110	8	132	132	0	strelka-varscan-mutect	SMYD1,missense_variant,p.Ala319Pro,ENST00000419482,NM_198274.3;SMYD1,missense_variant,p.Ala306Pro,ENST00000444564,;SMYD1,intron_variant,,ENST00000438570,;	C	ENST00000419482	Transcript	missense_variant	1040/4433	955/1473	319/490	A/P	Gct/Cct		1		1	SMYD1	HGNC	HGNC:20986	protein_coding	YES	CCDS33240.1	ENSP00000393453	Q8NB12	A0A0A6YYB2	UPI000006EB68	NM_198274.3	deleterious(0.01)		7/10		hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF184																	MODERATE	1	SNV	1			1										PASS		rs1173004578	.												C	3	2	57	88103124	88103124	G	C	1	0	0	0	0	1	0	0	0	15142	1203	42	4		4	SMYD1	2	88103124	Missense_Mutation	SNP	G	C3N-00560_TP	1	88103124	154090405	195	18134	386	2									
THNSL2	0	.	GRCh38	chr2	88173228	88173228	+	Frame_Shift_Del	DEL	C	C	-																															ttctctggctatgcacctgaCgggggcctctttatgcctga																								rs114858196		C3N-00560_TP	C3N-00560_NB	C	C																c.78delC	p.Asp26GlufsTer30	p.D26Efs*30	ENST00000324166	1/8	93	57	36	103	103	0	sindel-varindel	THNSL2,frameshift_variant,p.Asp26GlufsTer30,ENST00000324166,NM_018271.4;THNSL2,frameshift_variant,p.Asp26GlufsTer30,ENST00000343544,NM_001244676.1;THNSL2,frameshift_variant,p.Asp26GlufsTer30,ENST00000419759,;THNSL2,intron_variant,,ENST00000449349,;THNSL2,intron_variant,,ENST00000377254,NM_001244678.1;THNSL2,upstream_gene_variant,,ENST00000496844,;THNSL2,upstream_gene_variant,,ENST00000475910,;	-	ENST00000324166	Transcript	frameshift_variant	1769/3649	78/1455	26/484	D/X	gaC/ga	rs114858196	1		1	THNSL2	HGNC	HGNC:25602	protein_coding	YES	CCDS2002.2	ENSP00000327323	Q86YJ6		UPI00002088D9	NM_018271.4			1/8		Gene3D:1kl7A01,Pfam_domain:PF14821,hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF1,Superfamily_domains:SSF53686																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	57	88173228	88173228	C	-	1	0	1	0	1	0	0	0	0	16298	535	19	0		0	THNSL2	2	88173228	Frame_Shift_Del	DEL	C	C3N-00560_TP	70104	88173228	154020301	196	18135	387	2									
THNSL2	0	.	GRCh38	chr2	88173229	88173229	+	Missense_Mutation	SNP	G	G	A																															tctctggctatgcacctgacGggggcctctttatgcctgaa																								rs545602278		C3N-00560_TP	C3N-00560_NB	G	G																c.79G>A	p.Gly27Arg	p.G27R	ENST00000324166	1/8	109	68	41	105	105	0	strelka-mutect	THNSL2,missense_variant,p.Gly27Arg,ENST00000324166,NM_018271.4;THNSL2,missense_variant,p.Gly27Arg,ENST00000343544,NM_001244676.1;THNSL2,missense_variant,p.Gly27Arg,ENST00000419759,;THNSL2,intron_variant,,ENST00000449349,;THNSL2,intron_variant,,ENST00000377254,NM_001244678.1;THNSL2,upstream_gene_variant,,ENST00000496844,;THNSL2,upstream_gene_variant,,ENST00000475910,;	A	ENST00000324166	Transcript	missense_variant	1770/3649	79/1455	27/484	G/R	Ggg/Agg	rs545602278,COSM4879825,COSM4879826	1		1	THNSL2	HGNC	HGNC:25602	protein_coding	YES	CCDS2002.2	ENSP00000327323	Q86YJ6		UPI00002088D9	NM_018271.4	deleterious(0)		1/8		Gene3D:1kl7A01,Pfam_domain:PF14821,hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF1,Superfamily_domains:SSF53686											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs545602278	.												A	3	1	57	88173229	88173229	G	A	1	0	0	0	0	1	0	0	0	16298	1116	39	1		1	THNSL2	2	88173229	Missense_Mutation	SNP	G	C3N-00560_TP	1	88173229	154020300	197	18136	387	2									
THNSL2	0	.	GRCh38	chr2	88183073	88183073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggaactgcacagcaaGgtcagtcactacccacacac	14	4	7	16	0	2	0	2	0	0	0	2	1	2	1	2	2	4	2	2	2	4	1	rs569834072		C3N-00560_TP	C3N-00560_NB	G	G																c.1077G>T	p.Lys359Asn	p.K359N	ENST00000324166	6/8	75	69	6	77	77	0	strelka-varscan-mutect	THNSL2,missense_variant,p.Lys359Asn,ENST00000324166,NM_018271.4;THNSL2,missense_variant,p.Lys359Asn,ENST00000343544,NM_001244676.1;THNSL2,missense_variant,p.Lys201Asn,ENST00000377254,NM_001244678.1;THNSL2,intron_variant,,ENST00000449349,;THNSL2,splice_region_variant,,ENST00000496844,;THNSL2,splice_region_variant,,ENST00000496165,;THNSL2,non_coding_transcript_exon_variant,,ENST00000476349,;THNSL2,non_coding_transcript_exon_variant,,ENST00000464022,;	T	ENST00000324166	Transcript	missense_variant,splice_region_variant	2768/3649	1077/1455	359/484	K/N	aaG/aaT	rs569834072	1		1	THNSL2	HGNC	HGNC:25602	protein_coding	YES	CCDS2002.2	ENSP00000327323	Q86YJ6		UPI00002088D9	NM_018271.4	deleterious(0.03)		6/8		Gene3D:3.40.50.1100,Pfam_domain:PF00291,Superfamily_domains:SSF53686,TIGRFAM_domain:TIGR00260																	MODERATE	1	SNV	1			1										PASS		rs569834072	.												T	3	4	57	88183073	88183073	G	T	1	0	0	0	0	1	0	0	0	16298	1014	35	2		2	THNSL2	2	88183073	Missense_Mutation	SNP	G	C3N-00560_TP	9844	88183073	154010456	198	18137											
THNSL2	0	.	GRCh38	chr2	88185906	88185906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatccccacagcactccccGgtgctgcctcgcccctgcct	4	7	7	23	2	0	0	0	0	0	0	3	0	2	0	9	1	4	2	9	1	0	0	rs533962054		C3N-00560_TP	C3N-00560_NB	G	G																c.1238G>T	p.Arg413Leu	p.R413L	ENST00000324166	8/8	189	124	65	192	192	0	strelka-varscan-mutect	THNSL2,missense_variant,p.Arg413Leu,ENST00000324166,NM_018271.4;THNSL2,missense_variant,p.Gly239Cys,ENST00000449349,;THNSL2,synonymous_variant,p.=,ENST00000377254,NM_001244678.1;THNSL2,3_prime_UTR_variant,,ENST00000343544,NM_001244676.1;THNSL2,non_coding_transcript_exon_variant,,ENST00000496844,;THNSL2,downstream_gene_variant,,ENST00000496165,;THNSL2,downstream_gene_variant,,ENST00000476349,;THNSL2,downstream_gene_variant,,ENST00000464022,;	T	ENST00000324166	Transcript	missense_variant	2929/3649	1238/1455	413/484	R/L	cGg/cTg	rs533962054	1		1	THNSL2	HGNC	HGNC:25602	protein_coding	YES	CCDS2002.2	ENSP00000327323	Q86YJ6		UPI00002088D9	NM_018271.4	deleterious(0.04)		8/8		Gene3D:3.40.50.1100,hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF1,Superfamily_domains:SSF53686,TIGRFAM_domain:TIGR00260																	MODERATE	1	SNV	1			1										PASS		rs533962054	.												T	3	4	57	88185906	88185906	G	T	1	0	0	0	0	1	0	0	0	16298	1116	39	1		1	THNSL2	2	88185906	Missense_Mutation	SNP	G	C3N-00560_TP	2833	88185906	154007623	199	18138											
MAL	0	.	GRCh38	chr2	95049704	95049704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgaaaacattgctgccGtggtgagtccgggcacctgg	9	8	13	11	2	0	2	0	2	0	0	1	2	1	2	4	3	3	2	4	3	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.385G>T	p.Val129Leu	p.V129L	ENST00000309988	3/4	151	108	43	140	140	0	strelka-varscan-mutect	MAL,missense_variant,p.Val129Leu,ENST00000309988,NM_002371.3;MAL,missense_variant,p.Val73Leu,ENST00000354078,NM_022439.2;MAL,intron_variant,,ENST00000353004,NM_022438.2;MAL,intron_variant,,ENST00000349807,NM_022440.2;AC103563.9,downstream_gene_variant,,ENST00000442200,;	T	ENST00000309988	Transcript	missense_variant,splice_region_variant	494/1112	385/462	129/153	V/L	Gtg/Ttg		1		1	MAL	HGNC	HGNC:6817	protein_coding	YES	CCDS2006.1	ENSP00000310880	P21145	A0A024RE19	UPI000004494A	NM_002371.3	deleterious(0.01)		3/4		Pfam_domain:PF01284,Prints_domain:PR01884,PROSITE_profiles:PS51225,hmmpanther:PTHR22776,hmmpanther:PTHR22776:SF12,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1256810902	.												T	3	4	57	95049704	95049704	G	T	1	0	0	0	0	1	0	0	0	9118	1159	40	1		1	MAL	2	95049704	Missense_Mutation	SNP	G	C3N-00560_TP	6863798	95049704	147143825	200	18139											
NCAPH	0	.	GRCh38	chr2	96343210	96343211	+	Frame_Shift_Del	DEL	GC	GC	-																															agcaccaagatctatgctgtGcgcgtggatgccgtccatgc																								novel		C3N-00560_TP	C3N-00560_NB	GC	GC																c.504_505delCG	p.Val169GlyfsTer30	p.V169Gfs*30	ENST00000240423	5/18	129	96	33	181	181	0	sindel-varindel-pindel	NCAPH,frameshift_variant,p.Val158GlyfsTer30,ENST00000455200,;NCAPH,frameshift_variant,p.Val169GlyfsTer30,ENST00000240423,NM_015341.4,NM_001281710.1,NM_001281711.1;NCAPH,frameshift_variant,p.Val33GlyfsTer30,ENST00000427946,NM_001281712.1;NCAPH,frameshift_variant,p.Val158GlyfsTer30,ENST00000435975,;NCAPH,intron_variant,,ENST00000456906,;NCAPH,non_coding_transcript_exon_variant,,ENST00000477409,;	-	ENST00000240423	Transcript	frameshift_variant	544-545/2763	501-502/2226	167-168/741	VR/VX	gtGCgc/gtgc		1		1	NCAPH	HGNC	HGNC:1112	protein_coding	YES	CCDS2021.1	ENSP00000240423	Q15003		UPI0000163F72	NM_015341.4,NM_001281710.1,NM_001281711.1			5/18		hmmpanther:PTHR13108,Pfam_domain:PF05786,PIRSF_domain:PIRSF017126																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	57	96343210	96343210	GC	-	1	0	1	0	1	0	0	0	0	10225	1306	46	0		0	NCAPH	2	96343210	Frame_Shift_Del	DEL	GC	C3N-00560_TP	1293506	96343210	145850319	201	18140											
ANKRD39	0	.	GRCh38	chr2	96857970	96857970	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagggcccgtccgcgcaGggccgaggcgtcgccatccc	5	3	15	18	6	0	0	0	0	0	0	3	1	2	0	5	3	1	2	5	3	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.18C>T	p.=	p.P6P	ENST00000393537	1/4	218	145	73	153	153	0	strelka-varscan-mutect	ANKRD39,synonymous_variant,p.=,ENST00000393537,NM_016466.5;SEMA4C,downstream_gene_variant,,ENST00000305476,NM_017789.4;ANKRD23,upstream_gene_variant,,ENST00000462692,;ANKRD39,synonymous_variant,p.=,ENST00000443120,;SEMA4C,downstream_gene_variant,,ENST00000482925,;SEMA4C,downstream_gene_variant,,ENST00000467747,;SEMA4C,downstream_gene_variant,,ENST00000474420,;	A	ENST00000393537	Transcript	synonymous_variant	126/976	18/552	6/183	P	ccC/ccT		1		-1	ANKRD39	HGNC	HGNC:28640	protein_coding	YES	CCDS2028.1	ENSP00000377170	Q53RE8		UPI0000207C9D	NM_016466.5			1/4		hmmpanther:PTHR24148,hmmpanther:PTHR24148:SF18																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	96857970	96857970	G	A	1	0	0	0	0	0	0	0	1	774	987	35	3		3	ANKRD39	2	96857970	Silent	SNP	G	C3N-00560_TP	514760	96857970	145335559	202	18141											
INPP4A	0	.	GRCh38	chr2	98539534	98539534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatcccacctcagtgttcgGtggtgccatctgccgcatgt	5	12	10	14	2	3	0	2	0	1	0	5	0	4	0	4	2	2	2	4	2	0	1			C3N-00560_TP	C3N-00560_NB	G	G																c.677G>T	p.Gly226Val	p.G226V	ENST00000074304	10/26	95	57	38	70	70	0	strelka-varscan-mutect	INPP4A,missense_variant,p.Gly226Val,ENST00000409016,NM_004027.2;INPP4A,missense_variant,p.Gly226Val,ENST00000074304,NM_001134224.1;INPP4A,missense_variant,p.Gly226Val,ENST00000409851,NM_001134225.1;INPP4A,missense_variant,p.Gly226Val,ENST00000409540,NM_001566.2;INPP4A,missense_variant,p.Gly226Val,ENST00000523221,;INPP4A,intron_variant,,ENST00000409463,;	T	ENST00000074304	Transcript	missense_variant	1070/6752	677/2934	226/977	G/V	gGt/gTt	COSM2914124,COSM2914125,COSM2914126,COSM4317084	1		1	INPP4A	HGNC	HGNC:6074	protein_coding	YES	CCDS46369.1	ENSP00000074304	Q96PE3		UPI000006CD60	NM_001134224.1	tolerated(0.05)		10/26		hmmpanther:PTHR12187,hmmpanther:PTHR12187:SF4											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		rs1379669602	.												T	3	4	57	98539534	98539534	G	T	1	0	0	0	0	1	0	0	0	7655	1261	44	2		2	INPP4A	2	98539534	Missense_Mutation	SNP	G	C3N-00560_TP	1681564	98539534	143653995	203	18142											
TBC1D8	0	.	GRCh38	chr2	101029540	101029540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atccttgctgctgcacaggtCctcagcattggcctcaagca	8	10	9	14	0	2	0	2	0	0	0	4	0	4	0	3	2	5	5	3	2	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2128G>C	p.Asp710His	p.D710H	ENST00000376840	12/20	189	140	49	107	107	0	varscan-mutect	TBC1D8,missense_variant,p.Asp725His,ENST00000409318,;TBC1D8,missense_variant,p.Asp710His,ENST00000376840,NM_001102426.1;TBC1D8,non_coding_transcript_exon_variant,,ENST00000481317,;TBC1D8,non_coding_transcript_exon_variant,,ENST00000473937,;TBC1D8,non_coding_transcript_exon_variant,,ENST00000485875,;	G	ENST00000376840	Transcript	missense_variant	2128/3627	2128/3423	710/1140	D/H	Gac/Cac		1		-1	TBC1D8	HGNC	HGNC:17791	protein_coding	YES	CCDS46375.1	ENSP00000366036	O95759		UPI00015ADD19	NM_001102426.1	deleterious(0.03)		12/20		Pfam_domain:PF00566,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF260,SMART_domains:SM00164,Superfamily_domains:SSF47923																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	101029540	101029540	C	G	1	0	0	0	0	1	0	0	0	16030	855	30	4		4	TBC1D8	2	101029540	Missense_Mutation	SNP	C	C3N-00560_TP	2490006	101029540	141163989	204	18143											
RFX8	0	.	GRCh38	chr2	101406008	101406008	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagaagattccatctcAgctggaagctggcggccaat	12	8	12	9	1	1	3	1	1	1	3	3	5	2	4	2	3	2	2	2	3	4	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.863T>A	p.Leu288Gln	p.L288Q	ENST00000428343	10/12	170	129	41	141	141	0	strelka-varscan-mutect	RFX8,missense_variant,p.Leu288Gln,ENST00000428343,NM_001145664.1;RFX8,3_prime_UTR_variant,,ENST00000481179,;	T	ENST00000428343	Transcript	missense_variant	983/1686	863/1422	288/473	L/Q	cTg/cAg		1		-1	RFX8	HGNC	HGNC:37253	protein_coding	YES	CCDS46376.1	ENSP00000401536	Q6ZV50		UPI0001AE76D5	NM_001145664.1	deleterious(0)		10/12		hmmpanther:PTHR12619:SF24,hmmpanther:PTHR12619																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	101406008	101406008	A	T	1	0	0	0	0	1	0	0	0	13443	188	7	4		4	RFX8	2	101406008	Missense_Mutation	SNP	A	C3N-00560_TP	376468	101406008	140787521	205	18144											
IL1RL1	0	.	GRCh38	chr2	102340758	102340758	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacgcaggtgattacacCtgtaaatttatacacaatga	15	10	9	7	1	0	2	0	2	0	0	0	4	0	3	1	2	2	2	1	2	6	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.540C>A	p.=	p.T180T	ENST00000233954	5/11	135	87	48	146	146	0	strelka-mutect	IL1RL1,synonymous_variant,p.=,ENST00000311734,NM_003856.3;IL1RL1,synonymous_variant,p.=,ENST00000404917,NM_001282408.1;IL1RL1,synonymous_variant,p.=,ENST00000409584,;IL1RL1,synonymous_variant,p.=,ENST00000233954,NM_016232.4;IL18R1,intron_variant,,ENST00000410040,;IL1RL1,downstream_gene_variant,,ENST00000447231,;IL1RL1,intron_variant,,ENST00000482701,;IL1RL1,downstream_gene_variant,,ENST00000473175,;IL1RL1,synonymous_variant,p.=,ENST00000427077,;IL1RL1,downstream_gene_variant,,ENST00000463990,;	A	ENST00000233954	Transcript	synonymous_variant	811/2058	540/1671	180/556	T	acC/acA		1		1	IL1RL1	HGNC	HGNC:5998	protein_coding	YES	CCDS2057.1	ENSP00000233954	Q01638		UPI000013C992	NM_016232.4			5/11		Gene3D:2.60.40.10,Prints_domain:PR01536,PROSITE_profiles:PS50835,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF7,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs1251146420	.												A	2	1	57	102340758	102340758	C	A	1	0	0	0	0	0	0	0	1	7566	668	24	2		2	IL1RL1	2	102340758	Silent	SNP	C	C3N-00560_TP	934750	102340758	139852771	206	18145											
RGPD4	0	.	GRCh38	chr2	107890720	107890720	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttgttttactttccaaaGgtgaggaataaaatgcttcc	11	17	7	6	0	0	1	0	1	0	0	2	2	2	2	2	2	2	2	2	2	5	7	rs778358827		C3N-00560_TP	C3N-00560_NB	G	G																c.5267-1G>T		p.X1756_splice	ENST00000408999		88	50	38	117	117	0	strelka-varscan-mutect	RGPD4,splice_acceptor_variant,,ENST00000408999,NM_182588.2;	T	ENST00000408999	Transcript	splice_acceptor_variant	-/5464	5267/5277	1756/1758			rs778358827	1		1	RGPD4	HGNC	HGNC:32417	protein_coding	YES	CCDS46381.1	ENSP00000386810	Q7Z3J3		UPI0000418FF7	NM_182588.2				22/22																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	57	107890720	107890720	G	T	1	0	0	0	0	0	0	1	0	13460	1014	35	2		2	RGPD4	2	107890720	Splice_Site	SNP	G	C3N-00560_TP	5549962	107890720	134302809	207	18146											
RANBP2	0	.	GRCh38	chr2	108765429	108765429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaaatgtattgcttgtcaGaatccaggtaaacaaaatca	17	10	6	8	0	2	1	2	0	0	1	3	1	3	1	2	1	2	3	2	1	7	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4890G>C	p.Gln1630His	p.Q1630H	ENST00000283195	20/29	117	58	59	127	127	0	strelka-varscan-mutect	RANBP2,missense_variant,p.Gln1630His,ENST00000283195,NM_006267.4;	C	ENST00000283195	Transcript	missense_variant	5016/11711	4890/9675	1630/3224	Q/H	caG/caC		1		1	RANBP2	HGNC	HGNC:9848	protein_coding	YES	CCDS2079.1	ENSP00000283195	P49792		UPI0000207FB9	NM_006267.4	deleterious(0.03)		20/29		PROSITE_profiles:PS50199,Pfam_domain:PF00641,SMART_domains:SM00547,Superfamily_domains:SSF90209																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	108765429	108765429	G	C	1	0	0	0	0	1	0	0	0	13187	933	33	4		4	RANBP2	2	108765429	Missense_Mutation	SNP	G	C3N-00560_TP	874709	108765429	133428100	208	18147											
SLC35F5	0	.	GRCh38	chr2	113731587	113731587	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagtccagtacttacctaCtgtgtctcttccagcaggtt	8	13	8	12	0	1	1	0	0	1	1	4	1	3	1	3	1	4	3	3	1	3	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.982G>C	p.Val328Leu	p.V328L	ENST00000245680	10/16	113	61	52	132	132	0	strelka-varscan-mutect	SLC35F5,missense_variant,p.Val328Leu,ENST00000245680,NM_025181.3;SLC35F5,missense_variant,p.Val91Leu,ENST00000447673,;SLC35F5,upstream_gene_variant,,ENST00000470204,;SLC35F5,missense_variant,p.Val322Leu,ENST00000409106,;	G	ENST00000245680	Transcript	missense_variant	1396/4412	982/1572	328/523	V/L	Gta/Cta		1		-1	SLC35F5	HGNC	HGNC:23617	protein_coding	YES	CCDS2119.1	ENSP00000245680	Q8WV83	A0A024RAD4	UPI000004C648	NM_025181.3	tolerated(0.84)		10/16		hmmpanther:PTHR23051,hmmpanther:PTHR23051:SF0,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1359735479	.												G	3	3	57	113731587	113731587	C	G	1	0	0	0	0	1	0	0	0	14863	579	20	4		4	SLC35F5	2	113731587	Missense_Mutation	SNP	C	C3N-00560_TP	4966158	113731587	128461942	209	18148											
DDX18	0	.	GRCh38	chr2	117828967	117828967	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggttccattaagtgaatttGacttttcctggtctaaaatt	11	17	7	6	0	1	2	0	2	1	0	3	2	3	2	2	2	0	1	2	2	4	7	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1654G>C	p.Asp552His	p.D552H	ENST00000263239	12/14	42	24	18	93	93	0	strelka-varscan-mutect	DDX18,missense_variant,p.Asp552His,ENST00000263239,NM_006773.3;DDX18,downstream_gene_variant,,ENST00000415038,;AC009404.2,upstream_gene_variant,,ENST00000420330,;DDX18,downstream_gene_variant,,ENST00000474694,;DDX18,non_coding_transcript_exon_variant,,ENST00000476149,;DDX18,downstream_gene_variant,,ENST00000461443,;	C	ENST00000263239	Transcript	missense_variant	1782/3796	1654/2013	552/670	D/H	Gac/Cac		1		1	DDX18	HGNC	HGNC:2741	protein_coding	YES	CCDS2120.1	ENSP00000263239	Q9NVP1	A0A024RAH8	UPI000012907E	NM_006773.3	deleterious(0)		12/14		PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF301																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	117828967	117828967	G	C	1	0	0	0	0	1	0	0	0	4148	1290	45	4		4	DDX18	2	117828967	Missense_Mutation	SNP	G	C3N-00560_TP	4097380	117828967	124364562	210	18149											
MYO7B	0	.	GRCh38	chr2	127632347	127632347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagtttatagacactcGgagggggaagctgctggccc	10	7	14	10	1	0	2	0	0	0	2	1	4	0	4	2	4	2	3	2	4	4	3	rs532416210		C3N-00560_TP	C3N-00560_NB	G	G																c.5273G>T	p.Arg1758Leu	p.R1758L	ENST00000428314	38/47	79	41	38	78	78	0	strelka-varscan-mutect	MYO7B,missense_variant,p.Arg1758Leu,ENST00000428314,NM_001080527.1;MYO7B,missense_variant,p.Arg1758Leu,ENST00000409816,;MYO7B,missense_variant,p.Arg611Leu,ENST00000409090,;MYO7B,non_coding_transcript_exon_variant,,ENST00000496841,;MYO7B,non_coding_transcript_exon_variant,,ENST00000491278,;MYO7B,upstream_gene_variant,,ENST00000494959,;	T	ENST00000428314	Transcript	missense_variant	5326/6715	5273/6351	1758/2116	R/L	cGg/cTg	rs532416210,COSM4084712,COSM4084713	1		1	MYO7B	HGNC	HGNC:7607	protein_coding	YES	CCDS46405.1	ENSP00000415090	Q6PIF6		UPI00006C04F0	NM_001080527.1	deleterious(0.01)		38/47		Pfam_domain:PF00784,PROSITE_profiles:PS51016,SMART_domains:SM00139											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs532416210	.												T	3	4	57	127632347	127632347	G	T	1	0	0	0	0	1	0	0	0	10084	1116	39	1		1	MYO7B	2	127632347	Missense_Mutation	SNP	G	C3N-00560_TP	9803380	127632347	114561182	211	18150											
MYO7B	0	.	GRCh38	chr2	127636581	127636581	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacccggacgtcatcctcAtcgccatcaaccgacatggg	9	7	8	17	4	3	0	3	0	0	0	5	2	4	1	5	2	2	0	5	2	2	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.6082A>T	p.Ile2028Phe	p.I2028F	ENST00000428314	45/47	229	122	107	223	223	0	strelka-varscan-mutect	MYO7B,missense_variant,p.Ile2028Phe,ENST00000428314,NM_001080527.1;MYO7B,missense_variant,p.Ile2028Phe,ENST00000409816,;MYO7B,missense_variant,p.Ile881Phe,ENST00000409090,;LIMS2,downstream_gene_variant,,ENST00000409455,;LIMS2,downstream_gene_variant,,ENST00000410011,NM_001161404.1;LIMS2,downstream_gene_variant,,ENST00000409808,;LIMS2,downstream_gene_variant,,ENST00000324938,NM_017980.4;LIMS2,downstream_gene_variant,,ENST00000355119,NM_001161403.1;LIMS2,downstream_gene_variant,,ENST00000545738,NM_001136037.2;LIMS2,downstream_gene_variant,,ENST00000410038,NM_001256542.1;LIMS2,downstream_gene_variant,,ENST00000409286,;LIMS2,downstream_gene_variant,,ENST00000409754,;LIMS2,downstream_gene_variant,,ENST00000426981,;LIMS2,downstream_gene_variant,,ENST00000409254,;LIMS2,downstream_gene_variant,,ENST00000494613,;MYO7B,non_coding_transcript_exon_variant,,ENST00000496841,;MYO7B,non_coding_transcript_exon_variant,,ENST00000491278,;MYO7B,non_coding_transcript_exon_variant,,ENST00000494959,;LIMS2,downstream_gene_variant,,ENST00000469300,;LIMS2,downstream_gene_variant,,ENST00000466410,;LIMS2,downstream_gene_variant,,ENST00000476932,;LIMS2,downstream_gene_variant,,ENST00000484252,;LIMS2,downstream_gene_variant,,ENST00000413578,;	T	ENST00000428314	Transcript	missense_variant	6135/6715	6082/6351	2028/2116	I/F	Atc/Ttc		1		1	MYO7B	HGNC	HGNC:7607	protein_coding	YES	CCDS46405.1	ENSP00000415090	Q6PIF6		UPI00006C04F0	NM_001080527.1	deleterious(0)		45/47		Gene3D:2.30.29.30,PROSITE_profiles:PS50057,Superfamily_domains:SSF50729																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	57	127636581	127636581	A	T	1	0	0	0	0	1	0	0	0	10084	217	8	4		4	MYO7B	2	127636581	Missense_Mutation	SNP	A	C3N-00560_TP	4234	127636581	114556948	212	18151											
POTEE	0	.	GRCh38	chr2	131218897	131218897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgctcagggacactgaCgtgaacaagaaggacaagca	15	5	12	9	1	2	3	2	2	0	1	2	5	2	5	0	2	3	2	0	2	4	0	rs779199454		C3N-00560_TP	C3N-00560_NB	C	C																c.495C>A	p.Asp165Glu	p.D165E	ENST00000356920	1/15	432	333	99	478	478	0	strelka-varscan-mutect	POTEE,missense_variant,p.Asp165Glu,ENST00000356920,NM_001083538.1;POTEE,missense_variant,p.Asp165Glu,ENST00000626191,;POTEE,missense_variant,p.Asp165Glu,ENST00000613282,;PLEKHB2,intron_variant,,ENST00000404460,;POTEE,missense_variant,p.Asp165Glu,ENST00000358087,;POTEE,missense_variant,p.Asp165Glu,ENST00000514256,;	A	ENST00000356920	Transcript	missense_variant	831/4159	495/3228	165/1075	D/E	gaC/gaA	rs779199454,COSM4392134,COSM4392135	1		1	POTEE	HGNC	HGNC:33895	protein_coding	YES	CCDS46414.1	ENSP00000439189	Q6S8J3		UPI0000F58EC8	NM_001083538.1	deleterious_low_confidence(0)		1/15		PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs779199454	.												A	3	1	57	131218897	131218897	C	A	1	0	0	0	0	1	0	0	0	12378	535	19	1		1	POTEE	2	131218897	Missense_Mutation	SNP	C	C3N-00560_TP	3582316	131218897	110974632	213	18152											
NCKAP5	0	.	GRCh38	chr2	132784551	132784551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgaaagattcagtggacaCcctgggaacattatctacat	13	10	9	9	0	2	2	1	1	1	1	2	4	2	4	1	2	2	1	1	2	4	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2260G>T	p.Val754Leu	p.V754L	ENST00000409261	14/20	18	10	8	42	42	0	strelka-varscan-mutect	NCKAP5,missense_variant,p.Val754Leu,ENST00000409261,NM_207363.2;NCKAP5,missense_variant,p.Val754Leu,ENST00000317721,;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,intron_variant,,ENST00000409213,NM_207481.3;NCKAP5,upstream_gene_variant,,ENST00000473859,;	A	ENST00000409261	Transcript	missense_variant	2634/7594	2260/5730	754/1909	V/L	Gtg/Ttg		1		-1	NCKAP5	HGNC	HGNC:29847	protein_coding	YES	CCDS46418.1	ENSP00000387128	O14513		UPI0000E07A3F	NM_207363.2	tolerated(0.05)		14/20		hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF0																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	132784551	132784551	C	A	1	0	0	0	0	1	0	0	0	10241	507	18	2		2	NCKAP5	2	132784551	Missense_Mutation	SNP	C	C3N-00560_TP	1565654	132784551	109408978	214	18153											
LCT	0	.	GRCh38	chr2	135817887	135817887	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgtggaggcaccccaGaggaagccttcagggaaagt	10	6	14	11	0	1	1	1	0	0	1	2	4	2	4	4	4	1	2	4	4	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1161C>A	p.=	p.L387L	ENST00000264162	6/17	327	173	154	400	400	0	strelka-varscan-mutect	LCT,synonymous_variant,p.=,ENST00000264162,NM_002299.2;AC011893.3,upstream_gene_variant,,ENST00000437007,;LCT,upstream_gene_variant,,ENST00000452974,;	T	ENST00000264162	Transcript	synonymous_variant	1172/6279	1161/5784	387/1927	L	ctC/ctA		1		-1	LCT	HGNC	HGNC:6530	protein_coding	YES	CCDS2178.1	ENSP00000264162	P09848		UPI000013D4D2	NM_002299.2			6/17		PROSITE_patterns:PS00653,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	135817887	135817887	G	T	1	0	0	0	0	0	0	0	1	8599	929	33	2		2	LCT	2	135817887	Silent	SNP	G	C3N-00560_TP	3033336	135817887	106375642	215	18154											
EPC2	0	.	GRCh38	chr2	148762679	148762679	+	Frame_Shift_Del	DEL	G	G	-																															accttttcaagataccatttGggagactatggtggtgaaat																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.827delG	p.Gly276GlufsTer11	p.G276Efs*11	ENST00000258484	6/14	27	20	7	93	93	0	sindel-varindel-pindel	EPC2,frameshift_variant,p.Gly276GlufsTer11,ENST00000258484,NM_015630.3;EPC2,downstream_gene_variant,,ENST00000397424,;EPC2,downstream_gene_variant,,ENST00000491099,;	-	ENST00000258484	Transcript	frameshift_variant	859/3649	825/2424	275/807	L/X	ttG/tt		1		1	EPC2	HGNC	HGNC:24543	protein_coding	YES	CCDS46422.1	ENSP00000258484	Q52LR7		UPI00005A7FE2	NM_015630.3			6/14		hmmpanther:PTHR14898,hmmpanther:PTHR14898:SF4																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	57	148762679	148762679	G	-	1	0	1	0	1	0	0	0	0	5007	1339	47	0		0	EPC2	2	148762679	Frame_Shift_Del	DEL	G	C3N-00560_TP	12944792	148762679	93430850	216	18155											
BAZ2B	0	.	GRCh38	chr2	159478599	159478599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttgattgtagagctaaGtgaagcaactccagtggaaa	13	10	13	5	0	0	3	0	2	0	1	1	4	1	4	1	2	3	4	1	2	5	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.121C>T	p.Leu41Phe	p.L41F	ENST00000392783	3/37	107	52	55	112	112	0	strelka-varscan-mutect	BAZ2B,missense_variant,p.Leu41Phe,ENST00000392783,NM_013450.3;BAZ2B,missense_variant,p.Leu41Phe,ENST00000392782,NM_001289975.1;BAZ2B,missense_variant,p.Leu41Phe,ENST00000437839,;BAZ2B,missense_variant,p.Leu41Phe,ENST00000541068,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000483316,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000482503,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000467184,;	A	ENST00000392783	Transcript	missense_variant	617/8289	121/6507	41/2168	L/F	Ctt/Ttt		1		-1	BAZ2B	HGNC	HGNC:963	protein_coding	YES	CCDS2209.2	ENSP00000376534	Q9UIF8		UPI0000D74C4A	NM_013450.3	deleterious_low_confidence(0.02)		3/37																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	159478599	159478599	G	A	1	0	0	0	0	1	0	0	0	1477	1029	36	3		3	BAZ2B	2	159478599	Missense_Mutation	SNP	G	C3N-00560_TP	10715920	159478599	82714930	217	18156											
GCG	0	.	GRCh38	chr2	162149133	162149133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaacgttgccagctgccttGtaccagcattacaaataatc	12	10	8	11	1	0	0	0	0	0	0	1	1	0	1	3	1	7	4	3	1	5	5	rs767533221		C3N-00560_TP	C3N-00560_NB	G	G																c.46C>A	p.Gln16Lys	p.Q16K	ENST00000418842	2/6	106	68	38	160	160	0	strelka-varscan-mutect	GCG,missense_variant,p.Gln16Lys,ENST00000418842,NM_002054.4;GCG,missense_variant,p.Gln16Lys,ENST00000375497,;GCG,non_coding_transcript_exon_variant,,ENST00000492913,;GCG,upstream_gene_variant,,ENST00000497568,;GCG,upstream_gene_variant,,ENST00000483769,;	T	ENST00000418842	Transcript	missense_variant	301/1289	46/543	16/180	Q/K	Caa/Aaa	rs767533221	1		-1	GCG	HGNC	HGNC:4191	protein_coding	YES	CCDS46439.1	ENSP00000387662	P01275		UPI000012B832	NM_002054.4	deleterious(0.03)		2/6		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11418:SF0,hmmpanther:PTHR11418																	MODERATE	1	SNV	1			1										PASS		rs767533221	.												T	3	4	57	162149133	162149133	G	T	1	0	0	0	0	1	0	0	0	6159	1386	48	2		2	GCG	2	162149133	Missense_Mutation	SNP	G	C3N-00560_TP	2670534	162149133	80044396	218	18157											
KCNH7	0	.	GRCh38	chr2	162446394	162446394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaaacttgttgatgcgtGgtgtctgcagtttgtattca	7	17	11	6	2	2	1	1	1	1	0	3	1	2	1	0	1	3	5	0	1	3	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1178C>A	p.Pro393Gln	p.P393Q	ENST00000332142	7/16	90	53	37	132	131	1	strelka-varscan-mutect	KCNH7,missense_variant,p.Pro393Gln,ENST00000332142,NM_033272.3;KCNH7,missense_variant,p.Pro293Gln,ENST00000618399,;KCNH7,missense_variant,p.Pro386Gln,ENST00000328032,NM_173162.2;KCNH7,missense_variant,p.Pro284Gln,ENST00000621889,;	T	ENST00000332142	Transcript	missense_variant	1278/4113	1178/3591	393/1196	P/Q	cCa/cAa		1		-1	KCNH7	HGNC	HGNC:18863	protein_coding	YES	CCDS2219.1	ENSP00000331727	Q9NS40		UPI0000167D11	NM_033272.3	deleterious(0.02)		7/16		hmmpanther:PTHR10217:SF466,hmmpanther:PTHR10217																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	162446394	162446394	G	T	1	0	0	0	0	1	0	0	0	7953	1348	47	2		2	KCNH7	2	162446394	Missense_Mutation	SNP	G	C3N-00560_TP	297261	162446394	79747135	219	18158											
XIRP2	0	.	GRCh38	chr2	167239879	167239879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caattcatagcagccaggttGgcacttcaagaagcagccag	13	7	10	11	0	2	1	2	0	0	1	2	1	2	1	2	2	4	4	2	2	4	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.883G>A	p.Gly295Ser	p.G295S	ENST00000409195	6/11	250	111	139	198	198	0	strelka-varscan-mutect	XIRP2,missense_variant,p.Gly295Ser,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Gly73Ser,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Gly120Ser,ENST00000628543,;XIRP2,missense_variant,p.Gly328Ser,ENST00000409728,NM_001199143.1;XIRP2,missense_variant,p.Gly295Ser,ENST00000409043,NM_001079810.3;XIRP2,missense_variant,p.Gly73Ser,ENST00000409605,NM_001199145.1;	A	ENST00000409195	Transcript	missense_variant	972/12675	883/10650	295/3549	G/S	Ggc/Agc		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	tolerated(0.55)		6/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	167239879	167239879	G	A	1	0	0	0	0	1	0	0	0	17989	1348	47	3		3	XIRP2	2	167239879	Missense_Mutation	SNP	G	C3N-00560_TP	4793485	167239879	74953650	220	18159											
XIRP2	0	.	GRCh38	chr2	167247084	167247084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctggtgatattgaaaaaGctattgaatgccttgaaaaa	15	12	8	6	0	0	4	0	4	0	0	1	4	1	4	2	1	2	1	2	1	7	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.5692G>T	p.Ala1898Ser	p.A1898S	ENST00000409195	9/11	184	158	26	162	162	0	strelka-varscan-mutect	XIRP2,missense_variant,p.Ala1898Ser,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Ala1676Ser,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Ala1723Ser,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	T	ENST00000409195	Transcript	missense_variant	5781/12675	5692/10650	1898/3549	A/S	Gct/Tct		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious(0.02)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	167247084	167247084	G	T	1	0	0	0	0	1	0	0	0	17989	971	34	2		2	XIRP2	2	167247084	Missense_Mutation	SNP	G	C3N-00560_TP	7205	167247084	74946445	221	18160											
B3GALT1	0	.	GRCh38	chr2	167869681	167869681	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attaatggaggaccgattcgGgatgtccgcagtaagtggta	11	10	14	6	3	0	0	0	0	0	0	2	4	1	3	2	4	0	3	2	4	3	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.642G>T	p.=	p.R214R	ENST00000392690	1/1	107	95	12	96	96	0	strelka-varscan-mutect	B3GALT1,synonymous_variant,p.=,ENST00000392690,NM_020981.3;AC016723.4,intron_variant,,ENST00000436982,;AC016723.4,intron_variant,,ENST00000430546,;	T	ENST00000392690	Transcript	synonymous_variant	734/5094	642/981	214/326	R	cgG/cgT		1		1	B3GALT1	HGNC	HGNC:916	protein_coding	YES	CCDS2227.1	ENSP00000376456	Q9Y5Z6		UPI00000255A2	NM_020981.3			1/1		hmmpanther:PTHR11214:SF20,hmmpanther:PTHR11214,Pfam_domain:PF01762,Superfamily_domains:SSF53448																	LOW		SNV				1										PASS		.	.												T	2	4	57	167869681	167869681	G	T	1	0	0	0	0	0	0	0	1	1404	1219	43	2		2	B3GALT1	2	167869681	Silent	SNP	G	C3N-00560_TP	622597	167869681	74323848	222	18161											
OSBPL6	0	.	GRCh38	chr2	178361758	178361758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcagatggtttccgagcaGgatcacagtaaaggccacag	14	6	12	9	1	1	1	1	0	0	1	2	3	2	2	2	3	2	4	2	3	3	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1305G>A	p.=	p.Q435Q	ENST00000392505	14/26	226	95	131	281	281	0	strelka-varscan-mutect	OSBPL6,synonymous_variant,p.=,ENST00000190611,NM_032523.3;OSBPL6,synonymous_variant,p.=,ENST00000359685,NM_001201482.1;OSBPL6,synonymous_variant,p.=,ENST00000392505,NM_001201480.1;OSBPL6,synonymous_variant,p.=,ENST00000409045,NM_001201481.1;OSBPL6,synonymous_variant,p.=,ENST00000409631,;OSBPL6,synonymous_variant,p.=,ENST00000315022,NM_145739.2;OSBPL6,synonymous_variant,p.=,ENST00000357080,;	A	ENST00000392505	Transcript	synonymous_variant	1849/3637	1305/2880	435/959	Q	caG/caA		1		1	OSBPL6	HGNC	HGNC:16388	protein_coding	YES	CCDS56150.1	ENSP00000376293	Q9BZF3		UPI0000E5A29F	NM_001201480.1			14/26		hmmpanther:PTHR10972:SF76,hmmpanther:PTHR10972																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	178361758	178361758	G	A	1	0	0	0	0	0	0	0	1	11347	991	35	3		3	OSBPL6	2	178361758	Silent	SNP	G	C3N-00560_TP	10492077	178361758	63831771	223	18162											
TTN	0	.	GRCh38	chr2	178632544	178632544	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcaatgatcagtttgcCacttgtgtgcttatcttcag	8	16	7	10	0	4	1	3	1	1	0	4	1	4	1	2	0	2	2	2	0	2	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.43462G>T	p.Gly14488Cys	p.G14488C	ENST00000589042	235/363	187	94	93	319	319	0	strelka-varscan-mutect	TTN,missense_variant,p.Gly14488Cys,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Gly12847Cys,ENST00000591111,;TTN,missense_variant,p.Gly12847Cys,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Gly11920Cys,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Gly5423Cys,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Gly5615Cys,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Gly5548Cys,ENST00000359218,NM_133432.3;TTN,downstream_gene_variant,,ENST00000414766,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000630096,;TTN-AS1,upstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589907,;TTN-AS1,upstream_gene_variant,,ENST00000418062,;TTN-AS1,downstream_gene_variant,,ENST00000628296,;	A	ENST00000589042	Transcript	missense_variant	43687/109224	43462/107976	14488/35991	G/C	Ggc/Tgc		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			235/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	178632544	178632544	C	A	1	0	0	0	0	1	0	0	0	17245	594	21	2		2	TTN	2	178632544	Missense_Mutation	SNP	C	C3N-00560_TP	270786	178632544	63560985	224	18163											
TTN	0	.	GRCh38	chr2	178702498	178702498	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatggtcatataatggcagCggccatcattcctgaagttg	10	11	12	8	1	2	1	2	1	0	0	3	2	3	2	2	4	1	2	2	4	3	4	rs373355159		C3N-00560_TP	C3N-00560_NB	C	C																c.30389G>T	p.Arg10130Leu	p.R10130L	ENST00000589042	107/363	106	62	44	129	129	0	strelka-varscan-mutect	TTN,missense_variant,p.Arg10130Leu,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Arg9813Leu,ENST00000591111,;TTN,missense_variant,p.Arg9813Leu,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Arg8886Leu,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Arg8Leu,ENST00000414766,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;	A	ENST00000589042	Transcript	missense_variant	30614/109224	30389/107976	10130/35991	R/L	cGc/cTc	rs373355159	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			107/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF10,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726										not_provided							MODERATE	1	SNV	5		1	1										PASS		rs373355159	.												A	3	1	57	178702498	178702498	C	A	1	0	0	0	0	1	0	0	0	17245	768	27	1		1	TTN	2	178702498	Missense_Mutation	SNP	C	C3N-00560_TP	69954	178702498	63491031	225	18164											
TTN	0	.	GRCh38	chr2	178728531	178728531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtaggcatcacagctactGcttccgaagtcattttccac	11	11	7	12	1	2	0	2	0	0	0	4	1	4	0	2	1	3	4	2	1	4	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.19395C>A	p.Ser6465Arg	p.S6465R	ENST00000589042	66/363	69	45	24	77	77	0	strelka-varscan-mutect	TTN,missense_variant,p.Ser6465Arg,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Ser6148Arg,ENST00000591111,;TTN,missense_variant,p.Ser6148Arg,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Ser5221Arg,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;RP11-171I2.1,downstream_gene_variant,,ENST00000590024,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;	T	ENST00000589042	Transcript	missense_variant	19620/109224	19395/107976	6465/35991	S/R	agC/agA		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			66/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	178728531	178728531	G	T	1	0	0	0	0	1	0	0	0	17245	1310	46	2		2	TTN	2	178728531	Missense_Mutation	SNP	G	C3N-00560_TP	26033	178728531	63464998	226	18165											
TTN	0	.	GRCh38	chr2	178728743	178728743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggatctttctccgtaacatCaactgatttagctttctcta	9	16	6	10	1	4	1	1	1	3	0	6	2	4	2	1	1	3	2	1	1	4	6	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.19183G>C	p.Asp6395His	p.D6395H	ENST00000589042	66/363	61	49	12	84	84	0	strelka-varscan-mutect	TTN,missense_variant,p.Asp6395His,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Asp6078His,ENST00000591111,;TTN,missense_variant,p.Asp6078His,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Asp5151His,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;RP11-171I2.1,downstream_gene_variant,,ENST00000590024,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;	G	ENST00000589042	Transcript	missense_variant	19408/109224	19183/107976	6395/35991	D/H	Gat/Cat		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			66/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	57	178728743	178728743	C	G	1	0	0	0	0	1	0	0	0	17245	826	29	4		4	TTN	2	178728743	Missense_Mutation	SNP	C	C3N-00560_TP	212	178728743	63464786	227	18166											
ZNF804A	0	.	GRCh38	chr2	184937069	184937070	+	Frame_Shift_Ins	INS	-	-	A																															tcctgtaagatcagagaaacINSagaaaagtataattttacta																								novel		C3N-00560_TP	C3N-00560_NB	-	-																c.1674dupA	p.Glu559ArgfsTer4	p.E559Rfs*4	ENST00000302277	4/4	37	23	14	76	76	0	sindel-varindel-pindel	ZNF804A,frameshift_variant,p.Glu559ArgfsTer4,ENST00000302277,NM_194250.1;ZNF804A,frameshift_variant,p.Glu474ArgfsTer4,ENST00000613975,;	A	ENST00000302277	Transcript	frameshift_variant	2267-2268/4690	1673-1674/3630	558/1209	T/TX	aca/acAa		1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1			4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13																	HIGH	1	insertion	1	1		1										PASS		.	.												A	7	5	57	184937069	184937069	-	A	1	0	1	1	0	0	0	0	0	18755	478	17	0		0	ZNF804A	2	184937069	Frame_Shift_Ins	INS	-	C3N-00560_TP	6208326	184937069	57256460	228	18167											
FSIP2	0	.	GRCh38	chr2	185801001	185801001	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatagaattaggacagagtAaaagttctttagaactcagg	17	11	9	4	0	2	3	1	0	1	3	2	4	2	4	0	2	1	2	0	2	8	7	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.11962A>T	p.Lys3988Ter	p.K3988*	ENST00000343098	17/23	67	40	27	120	120	0	strelka-varscan-mutect	FSIP2,stop_gained,p.Lys3988Ter,ENST00000343098,NM_173651.2;FSIP2,stop_gained,p.Lys3899Ter,ENST00000424728,;FSIP2-AS1,upstream_gene_variant,,ENST00000436557,;FSIP2-AS1,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;	T	ENST00000343098	Transcript	stop_gained	11962/21054	11962/20991	3988/6996	K/*	Aaa/Taa		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2			17/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	HIGH		SNV	5			1										PASS		.	.												T	4	4	57	185801001	185801001	A	T	1	0	0	0	0	0	1	0	0	5949	363	13	4		4	FSIP2	2	185801001	Nonsense_Mutation	SNP	A	C3N-00560_TP	863932	185801001	56392528	229	18168											
COL5A2	0	.	GRCh38	chr2	189068252	189068252	+	Missense_Mutation	SNP	C	C	A																															gcctttggcaccaggagtacCatcagttcctattgcaccct																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1276G>T	p.Gly426Cys	p.G426C	ENST00000374866	20/54	300	193	107	432	431	1	strelka-varscan-mutect	COL5A2,missense_variant,p.Gly426Cys,ENST00000374866,NM_000393.3;COL5A2,intron_variant,,ENST00000618828,;	A	ENST00000374866	Transcript	missense_variant	1551/6949	1276/4500	426/1499	G/C	Ggt/Tgt		1		-1	COL5A2	HGNC	HGNC:2210	protein_coding	YES	CCDS33350.1	ENSP00000364000	P05997		UPI00006C511C	NM_000393.3	deleterious(0)		20/54		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF539,hmmpanther:PTHR24023																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	189068252	189068252	C	A	1	0	0	0	0	1	0	0	0	3486	594	21	2		2	COL5A2	2	189068252	Missense_Mutation	SNP	C	C3N-00560_TP	3267251	189068252	53125277	230	18169	388	2									
COL5A2	0	.	GRCh38	chr2	189068253	189068253	+	Missense_Mutation	SNP	A	A	T																															cctttggcaccaggagtaccAtcagttcctattgcacccta																								rs767089735		C3N-00560_TP	C3N-00560_NB	A	A																c.1275T>A	p.Asp425Glu	p.D425E	ENST00000374866	20/54	296	189	107	434	434	0	strelka-varscan-mutect	COL5A2,missense_variant,p.Asp425Glu,ENST00000374866,NM_000393.3;COL5A2,intron_variant,,ENST00000618828,;	T	ENST00000374866	Transcript	missense_variant	1550/6949	1275/4500	425/1499	D/E	gaT/gaA	rs767089735	1		-1	COL5A2	HGNC	HGNC:2210	protein_coding	YES	CCDS33350.1	ENSP00000364000	P05997		UPI00006C511C	NM_000393.3	deleterious(0.03)		20/54		hmmpanther:PTHR24023:SF539,hmmpanther:PTHR24023																	MODERATE	1	SNV	1			1										PASS		rs767089735	.												T	3	4	57	189068253	189068253	A	T	1	0	0	0	0	1	0	0	0	3486	214	8	4		4	COL5A2	2	189068253	Missense_Mutation	SNP	A	C3N-00560_TP	1	189068253	53125276	231	18170	388	2									
COL5A2	0	.	GRCh38	chr2	189179570	189179570	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaataaaacaataagaatgAggagaggtcttgcttccgcc	15	9	9	8	1	1	3	0	1	1	2	2	4	2	3	2	2	2	1	2	2	6	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.35T>A	p.Leu12His	p.L12H	ENST00000374866	1/54	250	137	113	381	380	1	strelka-varscan-mutect	COL5A2,missense_variant,p.Leu12His,ENST00000374866,NM_000393.3;COL5A2,5_prime_UTR_variant,,ENST00000618828,;	T	ENST00000374866	Transcript	missense_variant	310/6949	35/4500	12/1499	L/H	cTc/cAc		1		-1	COL5A2	HGNC	HGNC:2210	protein_coding	YES	CCDS33350.1	ENSP00000364000	P05997		UPI00006C511C	NM_000393.3	deleterious(0)		1/54		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	189179570	189179570	A	T	1	0	0	0	0	1	0	0	0	3486	304	11	4		4	COL5A2	2	189179570	Missense_Mutation	SNP	A	C3N-00560_TP	111317	189179570	53013959	232	18171											
MARS2	0	.	GRCh38	chr2	197706887	197706887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaggcatgcaccatggaaGctgaactgggagagcccagt	13	5	13	10	0	0	2	0	1	0	1	0	4	0	3	2	3	4	3	2	3	3	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1482G>T	p.Lys494Asn	p.K494N	ENST00000282276	1/1	207	108	99	281	280	1	strelka-varscan-mutect	MARS2,missense_variant,p.Lys494Asn,ENST00000282276,NM_138395.3;AC011997.1,intron_variant,,ENST00000409845,;	T	ENST00000282276	Transcript	missense_variant	1519/3019	1482/1782	494/593	K/N	aaG/aaT		1		1	MARS2	HGNC	HGNC:25133	protein_coding	YES	CCDS33358.1	ENSP00000282276	Q96GW9		UPI00000492CE	NM_138395.3	deleterious(0)		1/1		Gene3D:1.10.730.10,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF88,Superfamily_domains:SSF47323,TIGRFAM_domain:TIGR00398																	MODERATE		SNV				1										PASS		.	.												T	3	4	57	197706887	197706887	G	T	1	0	0	0	0	1	0	0	0	9242	962	34	2		2	MARS2	2	197706887	Missense_Mutation	SNP	G	C3N-00560_TP	8527317	197706887	44486642	233	18172											
NBEAL1	0	.	GRCh38	chr2	203138278	203138278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catacaggactttcttcagtCagagggactagttaattcaa	13	12	8	8	0	4	1	3	0	1	1	4	3	4	3	0	2	1	1	0	2	4	6	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.4595C>T	p.Ser1532Leu	p.S1532L	ENST00000449802	29/55	175	156	19	198	198	0	strelka-varscan-mutect	NBEAL1,missense_variant,p.Ser1532Leu,ENST00000449802,NM_001114132.1;	T	ENST00000449802	Transcript	missense_variant	4928/10938	4595/8085	1532/2694	S/L	tCa/tTa		1		1	NBEAL1	HGNC	HGNC:20681	protein_coding	YES	CCDS46495.1	ENSP00000399903	Q6ZS30		UPI000194EC27	NM_001114132.1	deleterious(0.01)		29/55		hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	203138278	203138278	C	T	1	0	0	0	0	1	0	0	0	10199	838	29	3		3	NBEAL1	2	203138278	Missense_Mutation	SNP	C	C3N-00560_TP	5431391	203138278	39055251	234	18173											
PARD3B	0	.	GRCh38	chr2	205615466	205615466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctttccaggggaggacccGcagatcctgtagactatctg	8	10	11	12	1	2	2	0	0	2	2	4	4	4	4	3	3	0	2	3	3	2	3	rs370015965		C3N-00560_TP	C3N-00560_NB	G	G																c.3271G>T	p.Ala1091Ser	p.A1091S	ENST00000406610	23/23	43	21	22	73	73	0	strelka-varscan-mutect	PARD3B,missense_variant,p.Ala1091Ser,ENST00000406610,NM_001302769.1;PARD3B,missense_variant,p.Ala955Ser,ENST00000613457,;PARD3B,missense_variant,p.Ala948Ser,ENST00000614500,;PARD3B,missense_variant,p.Ala916Ser,ENST00000622699,;PARD3B,missense_variant,p.Ala1029Ser,ENST00000358768,NM_152526.5;PARD3B,missense_variant,p.Ala1022Ser,ENST00000351153,NM_057177.6;PARD3B,missense_variant,p.Ala990Ser,ENST00000349953,NM_205863.3;PARD3B,non_coding_transcript_exon_variant,,ENST00000488622,;	T	ENST00000406610	Transcript	missense_variant	3478/8174	3271/3618	1091/1205	A/S	Gca/Tca	rs370015965	1		1	PARD3B	HGNC	HGNC:14446	protein_coding	YES	CCDS77511.1	ENSP00000385848	Q8TEW8		UPI0000070178	NM_001302769.1	tolerated(0.48)		23/23		hmmpanther:PTHR16484,hmmpanther:PTHR16484:SF4																	MODERATE	1	SNV	1			1										PASS		rs370015965	.												T	3	4	57	205615466	205615466	G	T	1	0	0	0	0	1	0	0	0	11524	1087	38	1		1	PARD3B	2	205615466	Missense_Mutation	SNP	G	C3N-00560_TP	2477188	205615466	36578063	235	18174											
ZDBF2	0	.	GRCh38	chr2	206307792	206307792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgattctgaacaacttcaGgaagcggttaaaaaaataga	17	11	8	5	1	2	3	1	2	1	1	2	4	2	4	0	2	3	1	0	2	8	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3264G>T	p.Gln1088His	p.Q1088H	ENST00000374423	5/5	70	35	35	121	121	0	strelka-varscan-mutect	ZDBF2,missense_variant,p.Gln1088His,ENST00000374423,NM_020923.2;ZDBF2,missense_variant,p.Gln1086His,ENST00000611847,NM_001285549.1;	T	ENST00000374423	Transcript	missense_variant	3650/10286	3264/7065	1088/2354	Q/H	caG/caT		1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2	tolerated(0.39)		5/5		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	206307792	206307792	G	T	1	0	0	0	0	1	0	0	0	18174	991	35	2		2	ZDBF2	2	206307792	Missense_Mutation	SNP	G	C3N-00560_TP	692326	206307792	35885737	236	18175											
CRYGD	0	.	GRCh38	chr2	208121869	208121869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagcggtcctgaagacagGagcagtcctcagtgaactct	11	7	13	10	1	2	3	1	2	1	1	4	5	4	5	2	3	3	1	2	3	3	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.329C>A	p.Ser110Tyr	p.S110Y	ENST00000264376	3/3	286	155	131	318	317	1	strelka-varscan-mutect	CRYGD,missense_variant,p.Ser110Tyr,ENST00000264376,NM_006891.3;	T	ENST00000264376	Transcript	missense_variant	357/619	329/525	110/174	S/Y	tCc/tAc		1		-1	CRYGD	HGNC	HGNC:2411	protein_coding	YES	CCDS2378.1	ENSP00000264376	P07320	A0A140CTX7	UPI0000161BE3	NM_006891.3	deleterious(0)		3/3		PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF63,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	208121869	208121869	G	T	1	0	0	0	0	1	0	0	0	3719	1174	41	2		2	CRYGD	2	208121869	Missense_Mutation	SNP	G	C3N-00560_TP	1814077	208121869	34071660	237	18176											
MAP2	0	.	GRCh38	chr2	209729849	209729849	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtatttcttccctcataGgtggcggacgtgtgaaaatt	10	13	11	7	2	2	1	1	1	1	0	3	2	3	2	1	4	0	1	1	4	5	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.5156-1G>T		p.X1719_splice	ENST00000360351		69	33	36	90	90	0	strelka-varscan-mutect	MAP2,splice_acceptor_variant,,ENST00000360351,NM_002374.3;MAP2,splice_acceptor_variant,,ENST00000447185,;MAP2,splice_acceptor_variant,,ENST00000392194,NM_031845.2;MAP2,splice_acceptor_variant,,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,splice_acceptor_variant,,ENST00000361559,;MAP2,splice_acceptor_variant,,ENST00000475600,;	T	ENST00000360351	Transcript	splice_acceptor_variant	-/9711	5156/5484	1719/1827				1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3				13/14																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	57	209729849	209729849	G	T	1	0	0	0	0	0	0	1	0	9157	1014	35	2		2	MAP2	2	209729849	Splice_Site	SNP	G	C3N-00560_TP	1607980	209729849	32463680	238	18177											
SPAG16	0	.	GRCh38	chr2	214410153	214410153	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaggtcgagttttagcTcaggcaagtggcaatggtgt	8	11	13	9	1	2	0	2	0	0	0	3	1	2	0	1	4	1	4	1	4	3	2	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1734T>A	p.=	p.A578A	ENST00000331683	16/16	182	105	77	262	262	0	strelka-varscan-mutect	SPAG16,synonymous_variant,p.=,ENST00000331683,NM_024532.4;SPAG16,synonymous_variant,p.=,ENST00000451561,;VWC2L,upstream_gene_variant,,ENST00000312504,NM_001080500.2;VWC2L,upstream_gene_variant,,ENST00000427124,;AC107218.3,intron_variant,,ENST00000437883,;AC107218.3,intron_variant,,ENST00000412896,;SPAG16,non_coding_transcript_exon_variant,,ENST00000480494,;SPAG16,3_prime_UTR_variant,,ENST00000406979,;VWC2L,upstream_gene_variant,,ENST00000477752,;	A	ENST00000331683	Transcript	synonymous_variant	1829/2177	1734/1896	578/631	A	gcT/gcA		1		1	SPAG16	HGNC	HGNC:23225	protein_coding	YES	CCDS2396.1	ENSP00000332592	Q8N0X2		UPI00001AFF12	NM_024532.4			16/16		PROSITE_profiles:PS50294,hmmpanther:PTHR14604:SF3,hmmpanther:PTHR14604,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	214410153	214410153	T	A	1	0	0	0	0	0	0	0	1	15309	1538	54	4		4	SPAG16	2	214410153	Silent	SNP	T	C3N-00560_TP	4680304	214410153	27783376	239	18178											
WNT10A	0	.	GRCh38	chr2	218890176	218890176	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggtaagggcctgagccAtggggtcccggaacacccag	8	5	16	12	2	0	1	0	1	0	0	1	2	1	2	4	5	2	1	4	5	2	1	rs766421951		C3N-00560_TP	C3N-00560_NB	A	A																c.569A>T	p.His190Leu	p.H190L	ENST00000258411	3/4	193	107	86	258	258	0	strelka-varscan-mutect	WNT10A,missense_variant,p.His190Leu,ENST00000258411,NM_025216.2;WNT10A,intron_variant,,ENST00000458582,;WNT10A,downstream_gene_variant,,ENST00000483911,;WNT10A,upstream_gene_variant,,ENST00000489887,;	T	ENST00000258411	Transcript	missense_variant	1202/2547	569/1254	190/417	H/L	cAt/cTt	rs766421951	1		1	WNT10A	HGNC	HGNC:13829	protein_coding	YES	CCDS2426.1	ENSP00000258411	Q9GZT5		UPI0000032F2A	NM_025216.2	tolerated(0.11)		3/4		Pfam_domain:PF00110,Prints_domain:PR01893,SMART_domains:SM00097																	MODERATE	1	SNV	1			1										PASS		rs766421951	.												T	3	4	57	218890176	218890176	A	T	1	0	0	0	0	1	0	0	0	17938	217	8	4		4	WNT10A	2	218890176	Missense_Mutation	SNP	A	C3N-00560_TP	4480023	218890176	23303353	240	18179											
SPEG	0	.	GRCh38	chr2	219477729	219477729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggggtcggggaggatgaGgaccatcgaggaaggagact	11	4	21	5	2	0	2	0	1	0	1	2	9	0	6	1	8	0	0	1	8	1	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4770G>T	p.Glu1590Asp	p.E1590D	ENST00000312358	21/41	38	23	15	51	51	0	strelka-mutect	SPEG,missense_variant,p.Glu1590Asp,ENST00000312358,NM_005876.4;AC053503.11,downstream_gene_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,downstream_gene_variant,,ENST00000485069,;	T	ENST00000312358	Transcript	missense_variant	4902/10782	4770/9804	1590/3267	E/D	gaG/gaT		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	tolerated(0.12)		21/41																			MODERATE		SNV	5			1										PASS		rs1459937250	.												T	3	4	57	219477729	219477729	G	T	1	0	0	0	0	1	0	0	0	15387	991	35	2		2	SPEG	2	219477729	Missense_Mutation	SNP	G	C3N-00560_TP	587553	219477729	22715800	241	18180											
ASB18	0	.	GRCh38	chr2	236214416	236214416	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggttgagcagcgcctgCaccgtgcgctgcggtgaggc	4	7	17	13	5	0	2	0	2	0	0	0	2	0	2	3	3	5	4	3	3	0	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1047G>T	p.=	p.V349V	ENST00000409749	4/6	276	159	117	307	307	0	strelka-varscan-mutect	ASB18,synonymous_variant,p.=,ENST00000409749,NM_212556.2;ASB18,synonymous_variant,p.=,ENST00000447030,;ASB18,downstream_gene_variant,,ENST00000430053,;RNU1-31P,upstream_gene_variant,,ENST00000363875,;AC079135.1,intron_variant,,ENST00000415226,;AC079135.1,downstream_gene_variant,,ENST00000483218,;	A	ENST00000409749	Transcript	synonymous_variant	1047/1401	1047/1401	349/466	V	gtG/gtT		1		-1	ASB18	HGNC	HGNC:19770	protein_coding	YES	CCDS46548.1	ENSP00000386532	Q6ZVZ8		UPI00015D60A6	NM_212556.2			4/6		Gene3D:1.25.40.20,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF7																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	57	236214416	236214416	C	A	1	0	0	0	0	0	0	0	1	1164	697	25	2		2	ASB18	2	236214416	Silent	SNP	C	C3N-00560_TP	16736687	236214416	5979113	242	18181											
KIF1A	0	.	GRCh38	chr2	240740322	240740322	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaggaggaaggtccccatGcatggcatgcccccacggtg	8	6	15	12	1	0	0	0	0	0	0	1	3	1	3	4	6	2	2	4	6	1	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3792C>T	p.=	p.C1264C	ENST00000498729	36/49	89	42	47	91	91	0	strelka-varscan-mutect	KIF1A,synonymous_variant,p.=,ENST00000498729,NM_001244008.1;KIF1A,synonymous_variant,p.=,ENST00000320389,NM_004321.6;KIF1A,synonymous_variant,p.=,ENST00000404283,;KIF1A,synonymous_variant,p.=,ENST00000431776,;KIF1A,downstream_gene_variant,,ENST00000415042,;KIF1A,upstream_gene_variant,,ENST00000494452,;	A	ENST00000498729	Transcript	synonymous_variant	4039/9223	3792/5376	1264/1791	C	tgC/tgT		1		-1	KIF1A	HGNC	HGNC:888	protein_coding	YES	CCDS58757.1	ENSP00000438388	Q12756		UPI0002065B81	NM_001244008.1			36/49		Pfam_domain:PF12473,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF361																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	240740322	240740322	G	A	1	0	0	0	0	0	0	0	1	8147	1311	46	3		3	KIF1A	2	240740322	Silent	SNP	G	C3N-00560_TP	4525906	240740322	1453207	243	18182											
C2orf54	0	.	GRCh38	chr2	240888383	240888383	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgagcccggagccgatgCgcggcggggggctgcggccc	3	4	19	15	6	0	1	0	1	0	0	0	3	0	2	4	6	4	1	4	6	0	1	rs372313713		C3N-00560_TP	C3N-00560_NB	C	C																c.1160G>T	p.Arg387Leu	p.R387L	ENST00000388934	4/5	77	46	31	108	108	0	strelka-varscan-mutect	C2orf54,missense_variant,p.Arg238Leu,ENST00000307486,NM_001282921.1;C2orf54,missense_variant,p.Arg219Leu,ENST00000402775,NM_024861.3;C2orf54,missense_variant,p.Arg387Leu,ENST00000388934,NM_001085437.2;	A	ENST00000388934	Transcript	missense_variant	1319/1911	1160/1344	387/447	R/L	cGc/cTc	rs372313713	1		-1	C2orf54	HGNC	HGNC:26216	protein_coding	YES	CCDS42839.1	ENSP00000373586	Q08AI8		UPI000049DF42	NM_001085437.2	deleterious(0.01)		4/5		hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF7																	MODERATE	1	SNV	2			1										PASS		rs372313713	.												A	3	1	57	240888383	240888383	C	A	1	0	0	0	0	1	0	0	0	2038	768	27	1		1	C2orf54	2	240888383	Missense_Mutation	SNP	C	C3N-00560_TP	148061	240888383	1305146	244	18183											
NEU4	0	.	GRCh38	chr2	241814924	241814924	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgtgctggggacagcagcCctggcggagcaccggtccat	7	5	15	14	3	0	0	0	0	0	0	1	2	1	2	3	5	4	3	3	5	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.273C>A	p.=	p.A91A	ENST00000325935	3/4	106	45	61	143	143	0	strelka-varscan-mutect	NEU4,synonymous_variant,p.=,ENST00000391969,NM_001167602.2;NEU4,synonymous_variant,p.=,ENST00000404257,NM_080741.3;NEU4,synonymous_variant,p.=,ENST00000325935,NM_001167599.2;NEU4,synonymous_variant,p.=,ENST00000407683,NM_001167601.2,NM_001167600.2;NEU4,synonymous_variant,p.=,ENST00000405370,;NEU4,synonymous_variant,p.=,ENST00000420288,;NEU4,synonymous_variant,p.=,ENST00000423583,;NEU4,synonymous_variant,p.=,ENST00000428592,;NEU4,intron_variant,,ENST00000415936,;NEU4,intron_variant,,ENST00000426032,;NEU4,downstream_gene_variant,,ENST00000435894,;NEU4,downstream_gene_variant,,ENST00000435934,;AC114730.3,upstream_gene_variant,,ENST00000413820,;AC114730.3,upstream_gene_variant,,ENST00000420272,;AC114730.3,upstream_gene_variant,,ENST00000439270,;NEU4,synonymous_variant,p.=,ENST00000435855,;NEU4,non_coding_transcript_exon_variant,,ENST00000618597,;NEU4,non_coding_transcript_exon_variant,,ENST00000488997,;NEU4,non_coding_transcript_exon_variant,,ENST00000476542,;NEU4,downstream_gene_variant,,ENST00000494678,;	A	ENST00000325935	Transcript	synonymous_variant	702/2288	273/1494	91/497	A	gcC/gcA		1		1	NEU4	HGNC	HGNC:21328	protein_coding	YES	CCDS54441.1	ENSP00000320318	Q8WWR8		UPI0000EE378E	NM_001167599.2			3/4		Gene3D:2.120.10.10,Pfam_domain:PF13088,hmmpanther:PTHR10628,hmmpanther:PTHR10628:SF22,Superfamily_domains:SSF50939																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	241814924	241814924	C	A	1	0	0	0	0	0	0	0	1	10379	610	22	2		2	NEU4	2	241814924	Silent	SNP	C	C3N-00560_TP	926541	241814924	378605	245	18184											
ITPR1	0	.	GRCh38	chr3	4670917	4670917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaccgagacgttctcaGctactacaggtgcgtgggac	9	7	15	10	3	1	1	1	0	1	1	2	5	1	4	1	4	4	2	1	4	2	3			C3N-00560_TP	C3N-00560_NB	G	G																c.2150G>T	p.Ser717Ile	p.S717I	ENST00000302640	19/61	31	17	14	31	31	0	strelka-varscan-mutect	ITPR1,missense_variant,p.Ser732Ile,ENST00000354582,;ITPR1,missense_variant,p.Ser717Ile,ENST00000302640,NM_001168272.1;ITPR1,missense_variant,p.Ser732Ile,ENST00000357086,NM_001099952.2;ITPR1,missense_variant,p.Ser717Ile,ENST00000456211,NM_002222.5;ITPR1,missense_variant,p.Ser717Ile,ENST00000443694,;ITPR1,intron_variant,,ENST00000544951,;ITPR1,non_coding_transcript_exon_variant,,ENST00000477577,;	T	ENST00000302640	Transcript	missense_variant	2500/10197	2150/8232	717/2743	S/I	aGc/aTc	COSM4823456,COSM4823457,COSM4823458	1		1	ITPR1	HGNC	HGNC:6180	protein_coding	YES	CCDS54551.1	ENSP00000306253	Q14643		UPI0000E5A461	NM_001168272.1	deleterious(0.04)		19/61		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF52											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		rs1464623729	.												T	3	4	57	4670917	4670917	G	T	1	0	0	0	0	1	0	0	0	7826	971	34	2		2	ITPR1	3	4670917	Missense_Mutation	SNP	G	C3N-00560_TP		4670917	193624642	246	18185											
GRM7	0	.	GRCh38	chr3	7578809	7578809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagctatgttcttttgacgGgcatctttctttgctacatc	6	18	7	10	1	4	1	1	1	3	0	5	1	4	1	0	1	3	4	0	1	2	7	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1903G>T	p.Gly635Cys	p.G635C	ENST00000357716	8/10	117	57	60	148	147	1	strelka-varscan-mutect	GRM7,missense_variant,p.Gly635Cys,ENST00000486284,NM_181874.2;GRM7,missense_variant,p.Gly635Cys,ENST00000357716,NM_000844.3;GRM7,missense_variant,p.Gly635Cys,ENST00000389336,;GRM7,missense_variant,p.Gly390Cys,ENST00000402647,;GRM7,downstream_gene_variant,,ENST00000445087,;GRM7,non_coding_transcript_exon_variant,,ENST00000458641,;GRM7,missense_variant,p.Gly635Cys,ENST00000467425,;GRM7,missense_variant,p.Gly635Cys,ENST00000440923,;GRM7,missense_variant,p.Gly635Cys,ENST00000389335,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;	T	ENST00000357716	Transcript	missense_variant	2177/4127	1903/2748	635/915	G/C	Ggc/Tgc		1		1	GRM7	HGNC	HGNC:4599	protein_coding	YES	CCDS43042.1	ENSP00000350348	Q14831		UPI000004A7E3	NM_000844.3	deleterious(0)		8/10		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF98,hmmpanther:PTHR24060,Pfam_domain:PF00003,Prints_domain:PR00248																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	7578809	7578809	G	T	1	0	0	0	0	1	0	0	0	6684	1232	43	2		2	GRM7	3	7578809	Missense_Mutation	SNP	G	C3N-00560_TP	2907892	7578809	190716750	247	18186											
GRM7	0	.	GRCh38	chr3	7578976	7578976	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgagcagggcaagaaatcAgtaacagctcccagactcat	14	8	9	10	0	2	3	2	1	0	2	3	3	3	3	1	1	3	4	1	1	3	2	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.2070A>T	p.=	p.S690S	ENST00000357716	8/10	206	107	99	240	240	0	strelka-varscan-mutect	GRM7,synonymous_variant,p.=,ENST00000486284,NM_181874.2;GRM7,synonymous_variant,p.=,ENST00000357716,NM_000844.3;GRM7,synonymous_variant,p.=,ENST00000389336,;GRM7,synonymous_variant,p.=,ENST00000402647,;GRM7,downstream_gene_variant,,ENST00000445087,;GRM7,non_coding_transcript_exon_variant,,ENST00000458641,;GRM7,synonymous_variant,p.=,ENST00000467425,;GRM7,synonymous_variant,p.=,ENST00000440923,;GRM7,synonymous_variant,p.=,ENST00000389335,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;	T	ENST00000357716	Transcript	synonymous_variant	2344/4127	2070/2748	690/915	S	tcA/tcT		1		1	GRM7	HGNC	HGNC:4599	protein_coding	YES	CCDS43042.1	ENSP00000350348	Q14831		UPI000004A7E3	NM_000844.3			8/10		PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF98,hmmpanther:PTHR24060,Pfam_domain:PF00003																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	7578976	7578976	A	T	1	0	0	0	0	0	0	0	1	6684	175	7	4		4	GRM7	3	7578976	Silent	SNP	A	C3N-00560_TP	167	7578976	190716583	248	18187											
SCN10A	0	.	GRCh38	chr3	38760729	38760729	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggggtcagaagtgcctcgcTtatttatgtagatatctgct	9	14	11	7	1	2	2	1	0	1	2	3	2	2	2	1	2	2	3	1	2	5	5	rs370912250		C3N-00560_TP	C3N-00560_NB	T	T																c.902A>T	p.Lys301Met	p.K301M	ENST00000449082	7/27	194	118	76	251	251	0	strelka-varscan-mutect	SCN10A,missense_variant,p.Lys301Met,ENST00000449082,NM_001293306.2,NM_006514.3,NM_001293307.2;	A	ENST00000449082	Transcript	missense_variant	902/6418	902/5871	301/1956	K/M	aAg/aTg	rs370912250,COSM3392389	1		-1	SCN10A	HGNC	HGNC:10582	protein_coding	YES	CCDS33736.1	ENSP00000390600	Q9Y5Y9		UPI0000209BDA	NM_001293306.2,NM_006514.3,NM_001293307.2	tolerated(0.08)		7/27		hmmpanther:PTHR10037:SF208,hmmpanther:PTHR10037,Pfam_domain:PF00520											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs370912250	.												A	3	1	57	38760729	38760729	T	A	1	0	0	0	0	1	0	0	0	14181	1609	56	4		4	SCN10A	3	38760729	Missense_Mutation	SNP	T	C3N-00560_TP	31181753	38760729	159534830	249	18188											
SCN11A	0	.	GRCh38	chr3	38921226	38921226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccagcttcttcacagagcGtagcaaggcccccacgatga	11	6	10	14	2	2	2	1	1	1	1	2	4	2	2	3	1	3	3	3	1	2	3	rs764550088		C3N-00560_TP	C3N-00560_NB	G	G																c.742C>T	p.Arg248Cys	p.R248C	ENST00000302328	6/26	116	65	51	112	112	0	strelka-varscan-mutect	SCN11A,missense_variant,p.Arg248Cys,ENST00000302328,NM_014139.2,NM_001287223.1;SCN11A,missense_variant,p.Arg248Cys,ENST00000444237,;SCN11A,missense_variant,p.Arg248Cys,ENST00000456224,;	A	ENST00000302328	Transcript	missense_variant	941/6500	742/5376	248/1791	R/C	Cgc/Tgc	rs764550088,COSM446467	1		-1	SCN11A	HGNC	HGNC:10583	protein_coding	YES	CCDS33737.1	ENSP00000307599	Q9UI33		UPI000006CCD7	NM_014139.2,NM_001287223.1	deleterious(0)		6/26		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF210,Superfamily_domains:SSF81324											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs764550088	.												A	3	1	57	38921226	38921226	G	A	1	0	0	0	0	1	0	0	0	14182	1145	40	1		1	SCN11A	3	38921226	Missense_Mutation	SNP	G	C3N-00560_TP	160497	38921226	159374333	250	18189											
KLHL40	0	.	GRCh38	chr3	42686741	42686741	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacaacgaagacaacaaaGaggaccccatgagcgcatac	17	4	8	12	2	1	3	0	1	1	2	1	5	1	4	2	1	5	1	2	1	6	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1123G>T	p.Glu375Ter	p.E375*	ENST00000287777	1/6	83	47	36	102	102	0	strelka-varscan-mutect	KLHL40,stop_gained,p.Glu375Ter,ENST00000287777,NM_152393.3;	T	ENST00000287777	Transcript	stop_gained	1223/2517	1123/1866	375/621	E/*	Gag/Tag		1		1	KLHL40	HGNC	HGNC:30372	protein_coding	YES	CCDS2703.1	ENSP00000287777	Q2TBA0		UPI000000D866	NM_152393.3			1/6		Superfamily_domains:0052715,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF22,SMART_domains:SM00612																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	42686741	42686741	G	T	1	0	0	0	0	0	1	0	0	8258	943	33	2		2	KLHL40	3	42686741	Nonsense_Mutation	SNP	G	C3N-00560_TP	3765515	42686741	155608818	251	18190											
PTH1R	0	.	GRCh38	chr3	46893970	46893970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcaccgtgctcaggccCagtgcgaaaaacggctcaag	10	6	12	13	3	2	0	2	0	0	0	2	1	2	0	2	2	5	4	2	2	3	0	rs138009937		C3N-00560_TP	C3N-00560_NB	C	C																c.139C>A	p.Gln47Lys	p.Q47K	ENST00000313049	2/14	200	103	97	220	220	0	strelka-varscan-mutect	PTH1R,missense_variant,p.Gln47Lys,ENST00000313049,;PTH1R,missense_variant,p.Gln47Lys,ENST00000449590,NM_000316.2;PTH1R,missense_variant,p.Gln47Lys,ENST00000418619,;PTH1R,missense_variant,p.Gln47Lys,ENST00000430002,NM_001184744.1;PTH1R,missense_variant,p.Gln47Lys,ENST00000427125,;PTH1R,non_coding_transcript_exon_variant,,ENST00000490109,;PTH1R,missense_variant,p.Gln47Lys,ENST00000428220,;	A	ENST00000313049	Transcript	missense_variant	342/2123	139/1782	47/593	Q/K	Cag/Aag	rs138009937	1		1	PTH1R	HGNC	HGNC:9608	protein_coding	YES	CCDS2747.1	ENSP00000321999	Q03431	A0A024R2Z8	UPI000005041F		tolerated(0.57)		2/14		PROSITE_profiles:PS50227,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF24																	MODERATE	1	SNV	1			1										PASS		rs138009937	.												A	3	1	57	46893970	46893970	C	A	1	0	0	0	0	1	0	0	0	12914	595	21	2		2	PTH1R	3	46893970	Missense_Mutation	SNP	C	C3N-00560_TP	4207229	46893970	151401589	252	18191											
CDHR4	0	.	GRCh38	chr3	49793803	49793803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccctggggtggatgtacCgctgagacggtccacagcaa	9	6	14	12	2	0	1	0	1	0	1	1	3	1	2	3	4	3	3	3	4	2	1	rs144675334		C3N-00560_TP	C3N-00560_NB	C	C																c.1483G>T	p.Gly495Trp	p.G495W	ENST00000412678	11/19	131	74	57	146	146	0	strelka-varscan-mutect	CDHR4,missense_variant,p.Gly495Trp,ENST00000412678,NM_001007540.3;CDHR4,downstream_gene_variant,,ENST00000343366,;CDHR4,downstream_gene_variant,,ENST00000487256,;CDHR4,upstream_gene_variant,,ENST00000487666,;CDHR4,upstream_gene_variant,,ENST00000462108,;CDHR4,upstream_gene_variant,,ENST00000460430,;	A	ENST00000412678	Transcript	missense_variant,splice_region_variant	1492/2476	1483/2367	495/788	G/W	Ggg/Tgg	rs144675334	1		-1	CDHR4	HGNC	HGNC:34527	protein_coding	YES	CCDS46829.1	ENSP00000391409	A6H8M9		UPI0001574E5E	NM_001007540.3	deleterious(0)		11/19		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF123,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	1			1										PASS		rs144675334	.												A	3	1	57	49793803	49793803	C	A	1	0	0	0	0	1	0	0	0	2824	666	23	1		1	CDHR4	3	49793803	Missense_Mutation	SNP	C	C3N-00560_TP	2899833	49793803	148501756	253	18192											
DOCK3	0	.	GRCh38	chr3	51270978	51270978	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagtccattgccaggaCagtggatagccgcctgtttt	7	11	12	11	1	0	0	0	0	0	0	1	2	1	2	4	2	3	3	4	2	1	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2519C>G	p.Thr840Arg	p.T840R	ENST00000266037	24/53	91	42	49	112	112	0	strelka-varscan-mutect	DOCK3,missense_variant,p.Thr840Arg,ENST00000266037,NM_004947.4;	G	ENST00000266037	Transcript	missense_variant	2542/8755	2519/6093	840/2030	T/R	aCa/aGa		1		1	DOCK3	HGNC	HGNC:2989	protein_coding	YES	CCDS46835.1	ENSP00000266037	Q8IZD9		UPI000007412C	NM_004947.4	deleterious(0)		24/53		hmmpanther:PTHR23317:SF66,hmmpanther:PTHR23317,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	51270978	51270978	C	G	1	0	0	0	0	1	0	0	0	4503	478	17	4		4	DOCK3	3	51270978	Missense_Mutation	SNP	C	C3N-00560_TP	1477175	51270978	147024581	254	18193											
ITIH4	0	.	GRCh38	chr3	52823709	52823709	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcgaaggtcactgctgtCagcagtgggttggccacttc	7	11	12	11	1	2	0	2	0	0	0	4	1	2	0	1	3	3	3	1	3	2	3	rs368475731		C3N-00560_TP	C3N-00560_NB	C	C																c.1386G>T	p.=	p.L462L	ENST00000266041	11/24	160	88	72	146	145	1	strelka-varscan-mutect	ITIH4,synonymous_variant,p.=,ENST00000266041,NM_002218.4;ITIH4,synonymous_variant,p.=,ENST00000485816,;ITIH4,synonymous_variant,p.=,ENST00000406595,NM_001166449.1;ITIH4,synonymous_variant,p.=,ENST00000441637,;ITIH4-AS1,upstream_gene_variant,,ENST00000478366,;ITIH4,upstream_gene_variant,,ENST00000467462,;ITIH4,upstream_gene_variant,,ENST00000471505,;ITIH4,upstream_gene_variant,,ENST00000484632,;RP5-966M1.6,3_prime_UTR_variant,,ENST00000468472,;ITIH4,non_coding_transcript_exon_variant,,ENST00000491663,;ITIH4,non_coding_transcript_exon_variant,,ENST00000537897,;ITIH4,non_coding_transcript_exon_variant,,ENST00000485894,;ITIH4,upstream_gene_variant,,ENST00000461966,;ITIH4,upstream_gene_variant,,ENST00000481977,;ITIH4,downstream_gene_variant,,ENST00000483372,;	A	ENST00000266041	Transcript	synonymous_variant	1483/3336	1386/2793	462/930	L	ctG/ctT	rs368475731	1		-1	ITIH4	HGNC	HGNC:6169	protein_coding	YES	CCDS2865.1	ENSP00000266041	Q14624		UPI000013D6C3	NM_002218.4			11/24		hmmpanther:PTHR10338:SF119,hmmpanther:PTHR10338																	LOW	1	SNV	1			1										PASS		rs368475731	.												A	2	1	57	52823709	52823709	C	A	1	0	0	0	0	0	0	0	1	7812	813	29	2		2	ITIH4	3	52823709	Silent	SNP	C	C3N-00560_TP	1552731	52823709	145471850	255	18194											
DNAH12	0	.	GRCh38	chr3	57323539	57323539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttgaatccaagtaactCtttgtcaaatcaaatggtgg	14	13	7	7	0	3	1	2	1	1	0	4	1	4	1	1	2	1	1	1	2	6	3	rs751401968		C3N-00560_TP	C3N-00560_NB	C	C																c.10059G>T	p.Lys3353Asn	p.K3353N	ENST00000495027	63/74	50	31	19	105	105	0	strelka-varscan-mutect	DNAH12,missense_variant,p.Lys3353Asn,ENST00000495027,NM_001291661.1;DNAH12,missense_variant,p.Lys2485Asn,ENST00000351747,;DNAH12,missense_variant,p.Lys179Asn,ENST00000466540,;	A	ENST00000495027	Transcript	missense_variant	10240/12146	10059/11883	3353/3960	K/N	aaG/aaT	rs751401968	1		-1	DNAH12	HGNC	HGNC:2943	protein_coding			ENSP00000418137		E9PG32	UPI0004620994	NM_001291661.1	tolerated(0.19)		63/74		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF255																	MODERATE	1	SNV	5			1										PASS		rs751401968	.												A	3	1	57	57323539	57323539	C	A	1	0	0	0	0	1	0	0	0	4414	912	32	2		2	DNAH12	3	57323539	Missense_Mutation	SNP	C	C3N-00560_TP	4499830	57323539	140972020	256	18195											
FOXP1	0	.	GRCh38	chr3	71047084	71047084	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccaactgctgggtagcCacctgctgttgctgtaagaa	11	9	11	10	0	0	1	0	0	0	1	0	1	0	1	3	1	6	6	3	1	5	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.522G>T	p.=	p.V174V	ENST00000615603	10/21	301	178	123	438	438	0	strelka-varscan-mutect	FOXP1,synonymous_variant,p.=,ENST00000615603,NM_001244810.1;FOXP1,synonymous_variant,p.=,ENST00000318789,NM_032682.5;FOXP1,synonymous_variant,p.=,ENST00000614176,NM_001244813.1;FOXP1,synonymous_variant,p.=,ENST00000475937,NM_001244816.1;FOXP1,synonymous_variant,p.=,ENST00000493089,NM_001244808.1;FOXP1,synonymous_variant,p.=,ENST00000498215,NM_001244814.1;FOXP1,synonymous_variant,p.=,ENST00000491238,NM_001244815.1;FOXP1,synonymous_variant,p.=,ENST00000484350,NM_001244812.1;FOXP1,synonymous_variant,p.=,ENST00000468577,;FOXP1,synonymous_variant,p.=,ENST00000497355,;FOXP1,synonymous_variant,p.=,ENST00000485326,;FOXP1,synonymous_variant,p.=,ENST00000472382,;FOXP1,synonymous_variant,p.=,ENST00000497553,;FOXP1,synonymous_variant,p.=,ENST00000327590,;	A	ENST00000615603	Transcript	synonymous_variant	1048/7140	522/2082	174/693	V	gtG/gtT		1		-1	FOXP1	HGNC	HGNC:3823	protein_coding	YES	CCDS74964.1	ENSP00000484803		A0A087X299	UPI00022AEF64	NM_001244810.1			10/21		Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF176,hmmpanther:PTHR11829																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	57	71047084	71047084	C	A	1	0	0	0	0	0	0	0	1	5891	581	21	2		2	FOXP1	3	71047084	Silent	SNP	C	C3N-00560_TP	13723545	71047084	127248475	257	18196											
EPHA3	0	.	GRCh38	chr3	89210280	89210280	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgttggtgcttgtgttgccTtggtgtctgtgagagtatac	5	17	14	5	0	1	1	0	1	1	1	1	2	1	1	1	2	3	4	1	2	2	6	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.574T>A	p.Leu192Met	p.L192M	ENST00000336596	3/17	107	61	46	154	154	0	strelka-varscan-mutect	EPHA3,missense_variant,p.Leu192Met,ENST00000336596,NM_005233.5;EPHA3,missense_variant,p.Leu192Met,ENST00000494014,;EPHA3,missense_variant,p.Leu192Met,ENST00000452448,NM_182644.2;	A	ENST00000336596	Transcript	missense_variant	799/5809	574/2952	192/983	L/M	Ttg/Atg		1		1	EPHA3	HGNC	HGNC:3387	protein_coding	YES	CCDS2922.1	ENSP00000337451	P29320	A0A140VJJ0	UPI0000163BE4	NM_005233.5	deleterious(0)		3/17		PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PROSITE_patterns:PS00790,PIRSF_domain:PIRSF000666,Pfam_domain:PF01404,Gene3D:2.60.120.260,SMART_domains:SM00615,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	89210280	89210280	T	A	1	0	0	0	0	1	0	0	0	5015	1606	56	4		4	EPHA3	3	89210280	Missense_Mutation	SNP	T	C3N-00560_TP	18163196	89210280	109085279	258	18197											
EPHA6	0	.	GRCh38	chr3	96866841	96866841	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgtgttgcttgatacAacaactgtactgggagagct	10	12	11	8	0	0	2	0	1	0	1	0	3	0	2	1	1	6	5	1	1	4	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.402A>T	p.=	p.T134T	ENST00000389672	2/18	75	60	15	144	144	0	strelka-varscan-mutect	EPHA6,synonymous_variant,p.=,ENST00000389672,NM_001080448.2;EPHA6,synonymous_variant,p.=,ENST00000470610,;EPHA6,synonymous_variant,p.=,ENST00000506569,NM_001278301.1;	T	ENST00000389672	Transcript	synonymous_variant	440/3971	402/3393	134/1130	T	acA/acT		1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2			2/18		Gene3D:2.60.120.260,Pfam_domain:PF01404,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,SMART_domains:SM00615,Superfamily_domains:SSF49785																	LOW	1	SNV	2			1										PASS		rs917664284	.												T	2	4	57	96866841	96866841	A	T	1	0	0	0	0	0	0	0	1	5018	117	5	4		4	EPHA6	3	96866841	Silent	SNP	A	C3N-00560_TP	7656561	96866841	101428718	259	18198											
MYH15	0	.	GRCh38	chr3	108399099	108399099	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgaatctgaagctggccCagggatttggttgcttctga	8	14	12	7	0	2	3	0	3	2	0	2	4	2	4	1	3	2	3	1	3	2	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.4965G>T	p.=	p.L1655L	ENST00000273353	35/42	74	49	25	72	72	0	varscan-mutect	MYH15,synonymous_variant,p.=,ENST00000273353,NM_014981.1;	A	ENST00000273353	Transcript	synonymous_variant	5022/7074	4965/5841	1655/1946	L	ctG/ctT		1		-1	MYH15	HGNC	HGNC:31073	protein_coding	YES	CCDS43127.1	ENSP00000273353	Q9Y2K3		UPI0000253B6F	NM_014981.1			35/42		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF475,Pfam_domain:PF01576																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	108399099	108399099	C	A	1	0	0	0	0	0	0	0	1	10034	581	21	2		2	MYH15	3	108399099	Silent	SNP	C	C3N-00560_TP	11532258	108399099	89896460	260	18199											
DPPA2	0	.	GRCh38	chr3	109309196	109309196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attagtactcaaaccgagttGttgacaccagtcccgcaaag	13	9	8	11	2	1	1	1	1	0	0	2	2	2	1	3	0	2	4	3	0	4	4	rs747560868		C3N-00560_TP	C3N-00560_NB	G	G																c.316C>A	p.Gln106Lys	p.Q106K	ENST00000478945	4/9	257	179	78	221	221	0	strelka-varscan-mutect	DPPA2,missense_variant,p.Gln106Lys,ENST00000478945,NM_138815.3;	T	ENST00000478945	Transcript	missense_variant	563/1383	316/897	106/298	Q/K	Caa/Aaa	rs747560868	1		-1	DPPA2	HGNC	HGNC:19197	protein_coding	YES	CCDS2956.1	ENSP00000417710	Q7Z7J5		UPI000007143F	NM_138815.3	deleterious(0.02)		4/9		Gene3D:1.10.720.30,PROSITE_profiles:PS50800,hmmpanther:PTHR16073,hmmpanther:PTHR16073:SF10																	MODERATE	1	SNV	1			1										PASS		rs747560868	.												T	3	4	57	109309196	109309196	G	T	1	0	0	0	0	1	0	0	0	4549	1386	48	2		2	DPPA2	3	109309196	Missense_Mutation	SNP	G	C3N-00560_TP	910097	109309196	88986363	261	18200											
CASR	0	.	GRCh38	chr3	122275915	122275915	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactattccatcatcaactGgcacctctccccagaggatg	11	9	7	14	0	3	1	2	0	1	1	5	3	4	2	4	2	2	1	4	2	3	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1481G>A	p.Trp494Ter	p.W494*	ENST00000498619	5/7	419	273	146	382	381	1	strelka-varscan-mutect	CASR,stop_gained,p.Trp494Ter,ENST00000498619,NM_001178065.1;CASR,stop_gained,p.Trp494Ter,ENST00000490131,NM_000388.3;	A	ENST00000498619	Transcript	stop_gained	1919/5011	1481/3267	494/1088	W/*	tGg/tAg		1		1	CASR	HGNC	HGNC:1514	protein_coding	YES	CCDS54632.1	ENSP00000420194		E7ENE0	UPI000020A065	NM_001178065.1			5/7		Pfam_domain:PF01094,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358,Superfamily_domains:SSF53822																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	122275915	122275915	G	A	1	0	0	0	0	0	1	0	0	2381	1357	47	3		3	CASR	3	122275915	Nonsense_Mutation	SNP	G	C3N-00560_TP	12966719	122275915	76019644	262	18201											
MYLK	0	.	GRCh38	chr3	123647414	123647414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctacaagtcgaaagacctGtccaaatttcccactgcaaa	14	10	5	12	1	1	1	0	0	1	1	4	2	3	1	3	0	2	1	3	0	5	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4429C>A	p.Gln1477Lys	p.Q1477K	ENST00000360304	26/33	372	309	63	408	407	1	strelka-varscan-mutect	MYLK,missense_variant,p.Gln1477Lys,ENST00000360772,;MYLK,missense_variant,p.Gln1477Lys,ENST00000360304,NM_001321309.1,NM_053025.3;MYLK,missense_variant,p.Gln1477Lys,ENST00000359169,NM_053027.3;MYLK,missense_variant,p.Gln1408Lys,ENST00000354792,;MYLK,missense_variant,p.Gln1408Lys,ENST00000346322,NM_053028.3,NM_053026.3;MYLK,missense_variant,p.Gln1477Lys,ENST00000475616,;MYLK-AS1,downstream_gene_variant,,ENST00000485162,;MYLK,intron_variant,,ENST00000514895,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,non_coding_transcript_exon_variant,,ENST00000513111,;	T	ENST00000360304	Transcript	missense_variant	4615/7738	4429/5745	1477/1914	Q/K	Cag/Aag		1		-1	MYLK	HGNC	HGNC:7590	protein_coding	YES	CCDS46896.1	ENSP00000353452	Q15746		UPI000020A0AE	NM_001321309.1,NM_053025.3	tolerated(0.11)		26/33		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF700,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	123647414	123647414	G	T	1	0	0	0	0	1	0	0	0	10056	1386	48	2		2	MYLK	3	123647414	Missense_Mutation	SNP	G	C3N-00560_TP	1371499	123647414	74648145	263	18202											
SNX4	0	.	GRCh38	chr3	125489442	125489442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgaatgttgcattaaGcgcttttaacctggagtctg	9	14	9	9	1	2	1	0	1	2	0	2	2	2	2	1	1	3	3	1	1	3	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.619C>T	p.Leu207Phe	p.L207F	ENST00000251775	6/14	176	151	25	271	270	1	strelka-varscan-mutect	SNX4,missense_variant,p.Leu207Phe,ENST00000251775,NM_003794.3;SNX4,intron_variant,,ENST00000473417,;SNX4,3_prime_UTR_variant,,ENST00000471751,;SNX4,intron_variant,,ENST00000465505,;	A	ENST00000251775	Transcript	missense_variant	644/2513	619/1353	207/450	L/F	Ctt/Ttt		1		-1	SNX4	HGNC	HGNC:11175	protein_coding	YES	CCDS3032.1	ENSP00000251775	O95219		UPI000003586D	NM_003794.3	tolerated(0.06)		6/14		hmmpanther:PTHR10555:SF139,hmmpanther:PTHR10555																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	125489442	125489442	G	A	1	0	0	0	0	1	0	0	0	15225	971	34	3		3	SNX4	3	125489442	Missense_Mutation	SNP	G	C3N-00560_TP	1842028	125489442	72806117	264	18203											
PLXNA1	0	.	GRCh38	chr3	127027947	127027947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacccccgcaggagtgcgCtggggagccgctgttcatgc	5	6	15	15	3	1	0	1	0	0	0	1	2	1	2	4	3	3	4	4	3	0	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.4370C>T	p.Ala1457Val	p.A1457V	ENST00000393409	23/31	455	291	164	464	464	0	strelka-varscan-mutect	PLXNA1,missense_variant,p.Ala1457Val,ENST00000393409,NM_032242.3;PLXNA1,upstream_gene_variant,,ENST00000505278,;PLXNA1,non_coding_transcript_exon_variant,,ENST00000503234,;PLXNA1,upstream_gene_variant,,ENST00000503363,;	T	ENST00000393409	Transcript	missense_variant	4370/9066	4370/5691	1457/1896	A/V	gCt/gTt		1		1	PLXNA1	HGNC	HGNC:9099	protein_coding	YES	CCDS33847.2	ENSP00000377061	Q9UIW2		UPI00001A7983	NM_032242.3	deleterious(0)		23/31		Pfam_domain:PF08337,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Superfamily_domains:SSF48350																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	127027947	127027947	C	T	1	0	0	0	0	1	0	0	0	12225	797	28	3		3	PLXNA1	3	127027947	Missense_Mutation	SNP	C	C3N-00560_TP	1538505	127027947	71267612	265	18204											
RPN1	0	.	GRCh38	chr3	128650677	128650677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttagccaggtggctgcttaGgtccactgtgcgcttcacgt	5	12	12	12	2	1	0	1	0	0	0	2	0	2	0	2	3	3	3	2	3	2	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.124C>G	p.Leu42Val	p.L42V	ENST00000296255	1/10	223	155	68	213	213	0	strelka-varscan-mutect	RPN1,missense_variant,p.Leu42Val,ENST00000296255,NM_002950.3;RPN1,intron_variant,,ENST00000497289,;RPN1,non_coding_transcript_exon_variant,,ENST00000497415,;RPN1,intron_variant,,ENST00000495462,;RPN1,missense_variant,p.Leu42Val,ENST00000476931,;RPN1,non_coding_transcript_exon_variant,,ENST00000481168,;	C	ENST00000296255	Transcript	missense_variant	173/2314	124/1824	42/607	L/V	Cta/Gta		1		-1	RPN1	HGNC	HGNC:10381	protein_coding	YES	CCDS3051.1	ENSP00000296255	P04843		UPI00001338BA	NM_002950.3	tolerated(0.2)		1/10		hmmpanther:PTHR21049,hmmpanther:PTHR21049:SF0,Pfam_domain:PF04597																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	128650677	128650677	G	C	1	0	0	0	0	1	0	0	0	13860	991	35	4		4	RPN1	3	128650677	Missense_Mutation	SNP	G	C3N-00560_TP	1622730	128650677	69644882	266	18205											
COL6A5	0	.	GRCh38	chr3	130379984	130379984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagtacaaagttcctgaaaAagctccagaatgaaatatgg	18	8	8	7	0	0	3	0	2	0	1	2	3	2	3	2	1	2	3	2	1	7	3	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1234A>G	p.Lys412Glu	p.K412E	ENST00000265379	4/43	151	117	34	144	144	0	strelka-varscan-mutect	COL6A5,missense_variant,p.Lys412Glu,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,missense_variant,p.Lys412Glu,ENST00000312481,;	G	ENST00000265379	Transcript	missense_variant	1728/9214	1234/7836	412/2611	K/E	Aag/Gag		1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1	deleterious(0.02)		4/43		PROSITE_profiles:PS50234,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	57	130379984	130379984	A	G	1	0	0	0	0	1	0	0	0	3491	15	1	5		5	COL6A5	3	130379984	Missense_Mutation	SNP	A	C3N-00560_TP	1729307	130379984	67915575	267	18206											
PIK3R4	0	.	GRCh38	chr3	130679321	130679321	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caaatcagtaggttttatttCcacaccttcacaatcccatc	12	13	3	13	0	2	0	2	0	0	0	5	0	4	0	3	1	0	2	3	1	4	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.4071G>C	p.Trp1357Cys	p.W1357C	ENST00000356763	20/20	91	72	19	102	101	1	strelka-varscan-mutect	PIK3R4,missense_variant,p.Trp1357Cys,ENST00000356763,NM_014602.2;COL6A6,downstream_gene_variant,,ENST00000358511,NM_001102608.1;PIK3R4,downstream_gene_variant,,ENST00000512677,;PIK3R4,non_coding_transcript_exon_variant,,ENST00000511760,;COL6A6,downstream_gene_variant,,ENST00000506143,;PIK3R4,downstream_gene_variant,,ENST00000512362,;	G	ENST00000356763	Transcript	missense_variant	4629/5015	4071/4077	1357/1358	W/C	tgG/tgC		1		-1	PIK3R4	HGNC	HGNC:8982	protein_coding	YES	CCDS3067.1	ENSP00000349205	Q99570		UPI0000071EF3	NM_014602.2	deleterious(0)		20/20		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR17583,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	130679321	130679321	C	G	1	0	0	0	0	1	0	0	0	12016	856	30	4		4	PIK3R4	3	130679321	Missense_Mutation	SNP	C	C3N-00560_TP	299337	130679321	67616238	268	18207											
SLCO2A1	0	.	GRCh38	chr3	133973804	133973804	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaagtagctgacaaagaTgatgaggatggcattgctga	14	8	13	6	0	0	5	0	4	0	1	0	6	0	6	1	2	2	4	1	2	3	2	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.256A>G	p.Ile86Val	p.I86V	ENST00000310926	3/14	168	133	35	145	145	0	strelka-mutect	SLCO2A1,missense_variant,p.Ile86Val,ENST00000310926,NM_005630.2;SLCO2A1,missense_variant,p.Ile86Val,ENST00000493729,;SLCO2A1,non_coding_transcript_exon_variant,,ENST00000478651,;SLCO2A1,missense_variant,p.Ile86Val,ENST00000481359,;SLCO2A1,non_coding_transcript_exon_variant,,ENST00000462770,;SLCO2A1,non_coding_transcript_exon_variant,,ENST00000464676,;	C	ENST00000310926	Transcript	missense_variant	530/4223	256/1932	86/643	I/V	Atc/Gtc		1		-1	SLCO2A1	HGNC	HGNC:10955	protein_coding	YES	CCDS3084.1	ENSP00000311291	Q92959		UPI000013F0AD	NM_005630.2	tolerated(1)		3/14		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF14,TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	133973804	133973804	T	C	1	0	0	0	0	1	0	0	0	15013	1464	51	5		5	SLCO2A1	3	133973804	Missense_Mutation	SNP	T	C3N-00560_TP	3294483	133973804	64321755	269	18208											
PRR23B	0	.	GRCh38	chr3	139020589	139020589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caatcggaggcgcttggcagGgccgggtcctcctggctgct	4	8	16	13	3	0	0	0	0	0	0	3	1	2	1	3	6	1	4	3	6	1	1	rs748085369		C3N-00560_TP	C3N-00560_NB	G	G																c.73C>A	p.Pro25Thr	p.P25T	ENST00000329447	1/1	144	121	23	135	133	2	strelka-varscan-mutect	PRR23B,missense_variant,p.Pro25Thr,ENST00000329447,NM_001013650.2;MRPS22,intron_variant,,ENST00000495075,;	T	ENST00000329447	Transcript	missense_variant	338/1896	73/798	25/265	P/T	Cct/Act	rs748085369	1		-1	PRR23B	HGNC	HGNC:33764	protein_coding	YES	CCDS33868.1	ENSP00000328768	Q6ZRT6		UPI00001C0F1A	NM_001013650.2	deleterious(0)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR31813:SF7,hmmpanther:PTHR31813,Pfam_domain:PF10630																	MODERATE		SNV				1										PASS		rs748085369	.												T	3	4	57	139020589	139020589	G	T	1	0	0	0	0	1	0	0	0	12730	1232	43	2		2	PRR23B	3	139020589	Missense_Mutation	SNP	G	C3N-00560_TP	5046785	139020589	59274970	270	18209											
TRIM42	0	.	GRCh38	chr3	140687965	140687965	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagatggatggtctgatcgCctactccaaggaagccctga	10	8	12	11	2	1	3	0	2	1	1	3	6	2	5	3	3	2	0	3	3	3	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1283C>G	p.Ala428Gly	p.A428G	ENST00000286349	3/5	267	218	49	268	268	0	strelka-varscan-mutect	TRIM42,missense_variant,p.Ala428Gly,ENST00000286349,NM_152616.4;	G	ENST00000286349	Transcript	missense_variant	1474/2539	1283/2172	428/723	A/G	gCc/gGc		1		1	TRIM42	HGNC	HGNC:19014	protein_coding	YES	CCDS3113.1	ENSP00000286349	Q8IWZ5		UPI00001AEAE0	NM_152616.4	tolerated(0.1)		3/5		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF269																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	140687965	140687965	C	G	1	0	0	0	0	1	0	0	0	17007	739	26	4		4	TRIM42	3	140687965	Missense_Mutation	SNP	C	C3N-00560_TP	1667376	140687965	57607594	271	18210											
GK5	0	.	GRCh38	chr3	142185965	142185965	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataggcacaccaaatatctcTtcatccactgatccaaaatt	15	11	3	12	0	2	1	1	1	1	0	5	1	4	1	3	1	0	1	3	1	5	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.780A>T	p.Glu260Asp	p.E260D	ENST00000392993	9/16	110	59	51	145	145	0	strelka-varscan-mutect	GK5,missense_variant,p.Glu260Asp,ENST00000392993,NM_001039547.2;GK5,upstream_gene_variant,,ENST00000486459,;GK5,missense_variant,p.Glu260Asp,ENST00000480757,;GK5,missense_variant,p.Glu260Asp,ENST00000492097,;GK5,upstream_gene_variant,,ENST00000460515,;GK5,downstream_gene_variant,,ENST00000460544,;GK5,upstream_gene_variant,,ENST00000460630,;	A	ENST00000392993	Transcript	missense_variant	932/9837	780/1590	260/529	E/D	gaA/gaT		1		-1	GK5	HGNC	HGNC:28635	protein_coding	YES	CCDS33871.1	ENSP00000418001	Q6ZS86		UPI000069B0CB	NM_001039547.2	tolerated(0.23)		9/16		Gene3D:3.30.420.40,Pfam_domain:PF00370,PIRSF_domain:PIRSF000538,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF68,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	142185965	142185965	T	A	1	0	0	0	0	1	0	0	0	6300	1606	56	4		4	GK5	3	142185965	Missense_Mutation	SNP	T	C3N-00560_TP	1498000	142185965	56109594	272	18211											
CPB1	0	.	GRCh38	chr3	148834612	148834612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttctaaagcagaatgaaCtacaatacaagtaagtttat	18	12	6	5	0	1	2	0	1	1	1	1	2	1	2	0	0	4	4	0	0	10	7	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.262C>T	p.=	p.L88L	ENST00000491148	4/12	142	109	33	150	150	0	strelka-varscan-mutect	CPB1,synonymous_variant,p.=,ENST00000491148,;CPB1,synonymous_variant,p.=,ENST00000282957,NM_001871.2;CPB1,synonymous_variant,p.=,ENST00000468341,;CPB1,synonymous_variant,p.=,ENST00000462345,;CPB1,downstream_gene_variant,,ENST00000494888,;CPB1,upstream_gene_variant,,ENST00000484877,;CPB1,non_coding_transcript_exon_variant,,ENST00000465718,;	T	ENST00000491148	Transcript	synonymous_variant	596/1773	262/1254	88/417	L	Cta/Tta		1		1	CPB1	HGNC	HGNC:2299	protein_coding	YES	CCDS33874.1	ENSP00000417222	P15086		UPI00001271CD				4/12		hmmpanther:PTHR11705:SF20,hmmpanther:PTHR11705,Gene3D:3.30.70.340,Pfam_domain:PF02244,Superfamily_domains:SSF54897																	LOW	1	SNV	5			1										PASS		rs1355424538	.												T	2	4	57	148834612	148834612	C	T	1	0	0	0	0	0	0	0	1	3590	564	20	3		3	CPB1	3	148834612	Silent	SNP	C	C3N-00560_TP	6648647	148834612	49460947	273	18212											
CP	0	.	GRCh38	chr3	149199739	149199739	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggttgtaatttggggAatagtatgtgccctcgttgt	6	15	15	5	1	0	0	0	0	0	0	1	1	0	1	1	4	1	4	1	4	4	6	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1474T>A	p.Ser492Thr	p.S492T	ENST00000264613	8/19	431	356	75	369	369	0	strelka-varscan-mutect	CP,missense_variant,p.Ser492Thr,ENST00000264613,NM_000096.3;CP,missense_variant,p.Ser275Thr,ENST00000494544,;CP,upstream_gene_variant,,ENST00000462336,;CP,missense_variant,p.Ser492Thr,ENST00000481169,;CP,non_coding_transcript_exon_variant,,ENST00000490639,;CP,non_coding_transcript_exon_variant,,ENST00000489736,;CP,non_coding_transcript_exon_variant,,ENST00000471356,;CP,non_coding_transcript_exon_variant,,ENST00000497797,;	T	ENST00000264613	Transcript	missense_variant	1737/4676	1474/3198	492/1065	S/T	Tcc/Acc		1		-1	CP	HGNC	HGNC:2295	protein_coding	YES	CCDS3141.1	ENSP00000264613	P00450		UPI000045718B	NM_000096.3	tolerated(0.56)		8/19		hmmpanther:PTHR10127:SF664,hmmpanther:PTHR10127,Gene3D:2.60.40.420,Superfamily_domains:SSF49503																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	149199739	149199739	A	T	1	0	0	0	0	1	0	0	0	3582	246	9	4		4	CP	3	149199739	Missense_Mutation	SNP	A	C3N-00560_TP	365127	149199739	49095820	274	18213											
CP	0	.	GRCh38	chr3	149207530	149207530	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcgtgcacatcaacttcaTtacccataccaaaaaggtac	14	9	5	13	1	2	0	2	0	0	0	2	0	2	0	2	1	6	2	2	1	6	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.869A>T	p.Asn290Ile	p.N290I	ENST00000264613	5/19	386	266	120	281	281	0	strelka-varscan-mutect	CP,missense_variant,p.Asn290Ile,ENST00000264613,NM_000096.3;CP,missense_variant,p.Asn73Ile,ENST00000494544,;CP,downstream_gene_variant,,ENST00000455472,;CP,missense_variant,p.Asn290Ile,ENST00000481169,;CP,non_coding_transcript_exon_variant,,ENST00000490639,;CP,non_coding_transcript_exon_variant,,ENST00000489736,;	A	ENST00000264613	Transcript	missense_variant	1132/4676	869/3198	290/1065	N/I	aAt/aTt		1		-1	CP	HGNC	HGNC:2295	protein_coding	YES	CCDS3141.1	ENSP00000264613	P00450		UPI000045718B	NM_000096.3	deleterious(0)		5/19		hmmpanther:PTHR10127:SF664,hmmpanther:PTHR10127,Gene3D:2.60.40.420,Pfam_domain:PF00394,Superfamily_domains:SSF49503																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	149207530	149207530	T	A	1	0	0	0	0	1	0	0	0	3582	1493	52	4		4	CP	3	149207530	Missense_Mutation	SNP	T	C3N-00560_TP	7791	149207530	49088029	275	18214											
P2RY1	0	.	GRCh38	chr3	152836565	152836565	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagaaaatcgatttacctGgtaatcattgtactgactgt	13	13	9	6	1	1	2	1	1	0	1	2	4	1	2	1	2	2	2	1	2	5	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.783G>T	p.=	p.L261L	ENST00000305097	1/1	229	157	72	245	245	0	strelka-varscan-mutect	P2RY1,synonymous_variant,p.=,ENST00000305097,NM_002563.3;	T	ENST00000305097	Transcript	synonymous_variant	1873/6747	783/1122	261/373	L	ctG/ctT		1		1	P2RY1	HGNC	HGNC:8539	protein_coding	YES	CCDS3169.1	ENSP00000304767	P47900		UPI0000001C06	NM_002563.3			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF2,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	57	152836565	152836565	G	T	1	0	0	0	0	0	0	0	1	11419	1335	47	2		2	P2RY1	3	152836565	Silent	SNP	G	C3N-00560_TP	3629035	152836565	45458994	276	18215											
SHOX2	0	.	GRCh38	chr3	158098044	158098044	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcacagacccagggctgCggcgtgctttttggctttca	5	11	13	12	3	2	1	2	0	0	1	2	1	2	1	1	3	2	3	1	3	0	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1051G>C	p.Ala351Pro	p.A351P	ENST00000389589	6/6	65	39	26	66	66	0	strelka-varscan-mutect	SHOX2,missense_variant,p.Ala327Pro,ENST00000441443,NM_006884.3;SHOX2,missense_variant,p.Ala351Pro,ENST00000389589,NM_003030.4;SHOX2,missense_variant,p.Ala315Pro,ENST00000483851,NM_001163678.1;SHOX2,missense_variant,p.Ala186Pro,ENST00000425436,;SHOX2,downstream_gene_variant,,ENST00000554685,;SHOX2,non_coding_transcript_exon_variant,,ENST00000490689,;	G	ENST00000389589	Transcript	missense_variant	1187/2072	1051/1068	351/355	A/P	Gca/Cca		1		-1	SHOX2	HGNC	HGNC:10854	protein_coding	YES	CCDS33884.2	ENSP00000374240	O60902		UPI0000169EC9	NM_003030.4	tolerated(0.08)		6/6		Pfam_domain:PF03826,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF290,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	158098044	158098044	C	G	1	0	0	0	0	1	0	0	0	14552	768	27	4		4	SHOX2	3	158098044	Missense_Mutation	SNP	C	C3N-00560_TP	5261479	158098044	40197515	277	18216											
SHOX2	0	.	GRCh38	chr3	158098193	158098193	+	Frame_Shift_Del	DEL	A	A	-																															gtccgaagggcggtgctgggAacatcatgtagggcgcgtgc																								novel		C3N-00560_TP	C3N-00560_NB	A	A																c.902delT	p.Phe301SerfsTer23	p.F301Sfs*23	ENST00000389589	6/6	276	243	33	276	276	0	sindel-varindel	SHOX2,frameshift_variant,p.Phe277SerfsTer23,ENST00000441443,NM_006884.3;SHOX2,frameshift_variant,p.Phe301SerfsTer23,ENST00000389589,NM_003030.4;SHOX2,frameshift_variant,p.Phe265SerfsTer23,ENST00000483851,NM_001163678.1;SHOX2,frameshift_variant,p.Phe136SerfsTer23,ENST00000425436,;SHOX2,downstream_gene_variant,,ENST00000554685,;SHOX2,non_coding_transcript_exon_variant,,ENST00000490689,;	-	ENST00000389589	Transcript	frameshift_variant	1038/2072	902/1068	301/355	F/X	tTc/tc		1		-1	SHOX2	HGNC	HGNC:10854	protein_coding	YES	CCDS33884.2	ENSP00000374240	O60902		UPI0000169EC9	NM_003030.4			6/6		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF290																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	57	158098193	158098193	A	-	1	0	1	0	1	0	0	0	0	14552	246	9	0		0	SHOX2	3	158098193	Frame_Shift_Del	DEL	A	C3N-00560_TP	149	158098193	40197366	278	18217											
SHOX2	0	.	GRCh38	chr3	158105867	158105867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgcccggactgccgggCtgctgcggtcgtcgcggccc	1	5	17	18	8	0	0	0	0	0	0	2	1	0	1	4	5	3	2	4	5	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.158G>T	p.Ser53Ile	p.S53I	ENST00000389589	1/6	172	141	31	134	134	0	strelka-varscan-mutect	SHOX2,missense_variant,p.Ser53Ile,ENST00000441443,NM_006884.3;SHOX2,missense_variant,p.Ser53Ile,ENST00000389589,NM_003030.4;SHOX2,missense_variant,p.Ser53Ile,ENST00000483851,NM_001163678.1;RSRC1,5_prime_UTR_variant,,ENST00000480820,;RSRC1,upstream_gene_variant,,ENST00000464171,;RSRC1,upstream_gene_variant,,ENST00000611884,NM_001271838.1;RSRC1,upstream_gene_variant,,ENST00000295930,NM_016625.3;SHOX2,upstream_gene_variant,,ENST00000425436,;RSRC1,upstream_gene_variant,,ENST00000312179,NM_001271834.1;RSRC1,upstream_gene_variant,,ENST00000475278,;RSRC1,upstream_gene_variant,,ENST00000476899,;RSRC1,upstream_gene_variant,,ENST00000471994,;RSRC1,upstream_gene_variant,,ENST00000494002,;SHOX2,upstream_gene_variant,,ENST00000554685,;RSRC1,upstream_gene_variant,,ENST00000471911,;RSRC1,upstream_gene_variant,,ENST00000468344,;SHOX2,upstream_gene_variant,,ENST00000490689,;RSRC1,upstream_gene_variant,,ENST00000480119,;	A	ENST00000389589	Transcript	missense_variant	294/2072	158/1068	53/355	S/I	aGc/aTc		1		-1	SHOX2	HGNC	HGNC:10854	protein_coding	YES	CCDS33884.2	ENSP00000374240	O60902		UPI0000169EC9	NM_003030.4	tolerated_low_confidence(0.16)		1/6		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF290																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	158105867	158105867	C	A	1	0	0	0	0	1	0	0	0	14552	797	28	2		2	SHOX2	3	158105867	Missense_Mutation	SNP	C	C3N-00560_TP	7674	158105867	40189692	279	18218											
BCHE	0	.	GRCh38	chr3	165830037	165830037	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccaagttcaagtaataTgtctggcatgtcagtgagaa	12	13	10	6	0	3	1	2	1	1	1	4	2	4	1	1	1	0	3	1	1	5	4	rs765307050		C3N-00560_TP	C3N-00560_NB	T	T																c.997A>G	p.Ile333Val	p.I333V	ENST00000264381	2/4	87	58	29	101	101	0	strelka-varscan-mutect	BCHE,missense_variant,p.Ile333Val,ENST00000264381,NM_000055.2;BCHE,intron_variant,,ENST00000488954,;BCHE,intron_variant,,ENST00000479451,;BCHE,missense_variant,p.Ile333Val,ENST00000482958,;BCHE,missense_variant,p.Ile333Val,ENST00000497011,;	C	ENST00000264381	Transcript	missense_variant	1164/2454	997/1809	333/602	I/V	Ata/Gta	rs765307050,COSM1040854	1		-1	BCHE	HGNC	HGNC:983	protein_coding	YES	CCDS3198.1	ENSP00000264381	P06276		UPI0000127866	NM_000055.2	tolerated(0.35)		2/4		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF215,Superfamily_domains:SSF53474											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs765307050	.												C	3	2	57	165830037	165830037	T	C	1	0	0	0	0	1	0	0	0	1505	1464	51	5		5	BCHE	3	165830037	Missense_Mutation	SNP	T	C3N-00560_TP	7724170	165830037	32465522	280	18219											
WDR49	0	.	GRCh38	chr3	167620582	167620582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacagggaaatcaaggctgCggtgaaagcaattgcttgaa	16	7	12	6	1	1	2	1	2	0	0	1	3	1	3	0	3	4	3	0	3	6	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.805G>C	p.Ala269Pro	p.A269P	ENST00000479765	5/10	130	74	56	117	117	0	strelka-varscan-mutect	WDR49,missense_variant,p.Ala269Pro,ENST00000479765,;WDR49,intron_variant,,ENST00000308378,NM_178824.3;WDR49,intron_variant,,ENST00000466760,;WDR49,upstream_gene_variant,,ENST00000472600,;WDR49,downstream_gene_variant,,ENST00000488012,;WDR49,intron_variant,,ENST00000460448,;	G	ENST00000479765	Transcript	missense_variant	1029/2108	805/1557	269/518	A/P	Gca/Cca		1		-1	WDR49	HGNC	HGNC:26587	protein_coding			ENSP00000419749		E9PDB0	UPI000013ED1E		deleterious(0.05)		5/10		Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE		SNV	2			1										PASS		rs907179390	.												G	3	3	57	167620582	167620582	C	G	1	0	0	0	0	1	0	0	0	17862	768	27	4		4	WDR49	3	167620582	Missense_Mutation	SNP	C	C3N-00560_TP	1790545	167620582	30674977	281	18220											
PLD1	0	.	GRCh38	chr3	171687510	171687510	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacatcatcaatactcttCtggatgggtaggttttgaac	10	14	8	9	0	4	1	2	1	2	0	5	2	5	2	1	3	2	2	1	3	4	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1614G>T	p.Gln538His	p.Q538H	ENST00000351298	15/27	231	148	83	228	228	0	strelka-varscan-mutect	PLD1,missense_variant,p.Gln538His,ENST00000356327,NM_001130081.2;PLD1,missense_variant,p.Gln538His,ENST00000351298,NM_002662.4;PLD1,downstream_gene_variant,,ENST00000481505,;	A	ENST00000351298	Transcript	missense_variant	1741/5604	1614/3225	538/1074	Q/H	caG/caT		1		-1	PLD1	HGNC	HGNC:9067	protein_coding	YES	CCDS3216.1	ENSP00000342793	Q13393		UPI0000131BDC	NM_002662.4	tolerated(0.15)		15/27		PIRSF_domain:PIRSF009376																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	171687510	171687510	C	A	1	0	0	0	0	1	0	0	0	12139	912	32	2		2	PLD1	3	171687510	Missense_Mutation	SNP	C	C3N-00560_TP	4066928	171687510	26608049	282	18221											
SPATA16	0	.	GRCh38	chr3	172956802	172956802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgagaaagattcagctctgGtgatggcttcctcaatcatg	10	11	10	10	1	4	3	3	1	1	2	5	4	5	3	2	2	1	2	2	2	2	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.956C>A	p.Thr319Asn	p.T319N	ENST00000351008	6/11	330	279	51	318	318	0	strelka-varscan-mutect	SPATA16,missense_variant,p.Thr319Asn,ENST00000351008,NM_031955.5;	T	ENST00000351008	Transcript	missense_variant	1140/2106	956/1710	319/569	T/N	aCc/aAc		1		-1	SPATA16	HGNC	HGNC:29935	protein_coding	YES	CCDS3221.1	ENSP00000341765	Q9BXB7	A0A140VJV8	UPI000013D9BF	NM_031955.5	deleterious(0)		6/11		Pfam_domain:PF15015,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF336																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	172956802	172956802	G	T	1	0	0	0	0	1	0	0	0	15331	1261	44	2		2	SPATA16	3	172956802	Missense_Mutation	SNP	G	C3N-00560_TP	1269292	172956802	25338757	283	18222											
NLGN1	0	.	GRCh38	chr3	174281013	174281013	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaacccatgcacaagaaGaggaaatcatgtccctccaa	16	7	6	12	0	2	2	1	0	1	2	4	3	4	3	3	1	2	1	3	1	5	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2182G>T	p.Glu728Ter	p.E728*	ENST00000457714	7/7	192	137	55	240	239	1	strelka-varscan-mutect	NLGN1,stop_gained,p.Glu728Ter,ENST00000457714,NM_014932.3;NLGN1,stop_gained,p.Glu728Ter,ENST00000361589,;NLGN1,stop_gained,p.Glu513Ter,ENST00000401917,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;NLGN1,downstream_gene_variant,,ENST00000469564,;	T	ENST00000457714	Transcript	stop_gained	2611/8242	2182/2472	728/823	E/*	Gag/Tag		1		1	NLGN1	HGNC	HGNC:14291	protein_coding	YES	CCDS3222.1	ENSP00000392500	Q8N2Q7		UPI0000072F54	NM_014932.3			7/7																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	174281013	174281013	G	T	1	0	0	0	0	0	1	0	0	10498	943	33	2		2	NLGN1	3	174281013	Nonsense_Mutation	SNP	G	C3N-00560_TP	1324211	174281013	24014546	284	18223											
MCCC1	0	.	GRCh38	chr3	183039079	183039079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatgccgcctggcgatctgCtgcccacacgaccagcttcg	7	7	10	17	4	1	0	0	0	1	0	2	2	1	0	4	1	4	2	4	1	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1324G>T	p.Ala442Ser	p.A442S	ENST00000265594	12/19	408	260	148	425	425	0	strelka-varscan-mutect	MCCC1,missense_variant,p.Ala333Ser,ENST00000492597,;MCCC1,missense_variant,p.Ala442Ser,ENST00000265594,NM_020166.4;MCCC1,missense_variant,p.Ala292Ser,ENST00000610757,NM_001293273.1;MCCC1,missense_variant,p.Ala404Ser,ENST00000629669,;MCCC1,missense_variant,p.Ala395Ser,ENST00000476176,;MCCC1,upstream_gene_variant,,ENST00000489909,;MCCC1,missense_variant,p.Ala404Ser,ENST00000497959,;MCCC1,3_prime_UTR_variant,,ENST00000497830,;MCCC1,3_prime_UTR_variant,,ENST00000495767,;	A	ENST00000265594	Transcript	missense_variant	1471/2545	1324/2178	442/725	A/S	Gca/Tca		1		-1	MCCC1	HGNC	HGNC:6936	protein_coding	YES	CCDS3241.1	ENSP00000265594	Q96RQ3	A0A0S2Z693	UPI000013D646	NM_020166.4	tolerated(0.31)		12/19		PROSITE_profiles:PS50979,hmmpanther:PTHR18866,Pfam_domain:PF02785,Gene3D:3.30.470.20,SMART_domains:SM00878,Superfamily_domains:SSF51246																	MODERATE	1	SNV	1			1										PASS		rs1386085483	.												A	3	1	57	183039079	183039079	C	A	1	0	0	0	0	1	0	0	0	9304	797	28	2		2	MCCC1	3	183039079	Missense_Mutation	SNP	C	C3N-00560_TP	8758066	183039079	15256480	285	18224											
ABCC5	0	.	GRCh38	chr3	183950109	183950109	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaacatctcggcctggaaCggcagccgcacgtcaactgt	10	7	11	13	4	2	1	1	1	1	0	3	2	2	2	2	3	4	2	2	3	3	0	rs201096049		C3N-00560_TP	C3N-00560_NB	C	C																c.2961G>C	p.=	p.P987P	ENST00000334444	21/30	146	119	27	140	140	0	strelka-varscan-mutect	ABCC5,synonymous_variant,p.=,ENST00000334444,NM_005688.2;ABCC5,synonymous_variant,p.=,ENST00000265586,;ABCC5,3_prime_UTR_variant,,ENST00000437205,NM_001320032.1;	G	ENST00000334444	Transcript	synonymous_variant	3202/5921	2961/4314	987/1437	P	ccG/ccC	rs201096049	1		-1	ABCC5	HGNC	HGNC:56	protein_coding	YES	CCDS43176.1	ENSP00000333926	O15440		UPI000004A33C	NM_005688.2			21/30		PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF196,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123																	LOW	1	SNV	1			1										PASS		rs201096049	.												G	2	3	57	183950109	183950109	C	G	1	0	0	0	0	0	0	0	1	60	523	19	4		4	ABCC5	3	183950109	Silent	SNP	C	C3N-00560_TP	911030	183950109	14345450	286	18225											
HTR3E	0	.	GRCh38	chr3	184104222	184104222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggaacccagaggaatGtgagggcatcacgaagatga	14	5	14	8	1	1	4	1	2	0	2	1	7	1	6	1	3	2	2	1	3	3	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.320G>T	p.Cys107Phe	p.C107F	ENST00000440596	2/7	154	131	23	116	116	0	strelka-varscan-mutect	HTR3E,missense_variant,p.Cys107Phe,ENST00000415389,NM_001256613.1;HTR3E,missense_variant,p.Cys122Phe,ENST00000335304,NM_182589.2;HTR3E,missense_variant,p.Cys107Phe,ENST00000440596,NM_001256614.1;HTR3E,missense_variant,p.Cys107Phe,ENST00000436361,NM_198314.2;HTR3E,missense_variant,p.Cys92Phe,ENST00000425359,NM_198313.2;HTR3E,missense_variant,p.Cys36Phe,ENST00000431041,;HTR3E-AS1,non_coding_transcript_exon_variant,,ENST00000431427,;	T	ENST00000440596	Transcript	missense_variant	320/1449	320/1449	107/482	C/F	tGt/tTt		1		1	HTR3E	HGNC	HGNC:24005	protein_coding	YES	CCDS58871.1	ENSP00000406050	A5X5Y0		UPI000198CB5D	NM_001256614.1	deleterious(0)		2/7		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF378,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	184104222	184104222	G	T	1	0	0	0	0	1	0	0	0	7344	1377	48	2		2	HTR3E	3	184104222	Missense_Mutation	SNP	G	C3N-00560_TP	154113	184104222	14191337	287	18226											
DGKG	0	.	GRCh38	chr3	186275595	186275595	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgagcatgatatggcAgaagttgcagtaggttggtt	10	11	14	6	0	0	3	0	2	0	1	0	3	0	3	1	3	2	7	1	3	3	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.862T>A	p.Cys288Ser	p.C288S	ENST00000265022	10/25	219	180	39	219	219	0	strelka-varscan-mutect	DGKG,missense_variant,p.Cys288Ser,ENST00000265022,NM_001346.2;DGKG,missense_variant,p.Cys288Ser,ENST00000344484,NM_001080744.1;DGKG,missense_variant,p.Cys288Ser,ENST00000382164,NM_001080745.1;DGKG,missense_variant,p.Cys39Ser,ENST00000437018,;DGKG,non_coding_transcript_exon_variant,,ENST00000480809,;DGKG,non_coding_transcript_exon_variant,,ENST00000472506,;DGKG,downstream_gene_variant,,ENST00000482566,;	T	ENST00000265022	Transcript	missense_variant	1402/5805	862/2376	288/791	C/S	Tgc/Agc		1		-1	DGKG	HGNC	HGNC:2853	protein_coding	YES	CCDS3274.1	ENSP00000265022	P49619		UPI000013D5AB	NM_001346.2	deleterious(0)		10/25		PROSITE_profiles:PS50081,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF36,PROSITE_patterns:PS00479,Pfam_domain:PF00130,Gene3D:3.30.60.20,SMART_domains:SM00109,Superfamily_domains:SSF57889																	MODERATE	1	SNV	1			1										PASS		rs1222063890	.												T	3	4	57	186275595	186275595	A	T	1	0	0	0	0	1	0	0	0	4275	188	7	4		4	DGKG	3	186275595	Missense_Mutation	SNP	A	C3N-00560_TP	2171373	186275595	12019964	288	18227											
RFC4	0	.	GRCh38	chr3	186804670	186804670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgatccttggtcagcGggggtttagtactgatggat	6	13	13	9	2	1	1	1	1	0	0	4	3	3	2	2	4	2	2	2	4	2	4	rs146612878		C3N-00560_TP	C3N-00560_NB	G	G																c.44C>T	p.Pro15Leu	p.P15L	ENST00000392481	2/11	181	151	30	206	206	0	strelka-varscan-mutect	RFC4,missense_variant,p.Pro15Leu,ENST00000392481,NM_181573.2;RFC4,missense_variant,p.Pro15Leu,ENST00000296273,NM_002916.3;RFC4,missense_variant,p.Pro15Leu,ENST00000433496,;RFC4,missense_variant,p.Pro15Leu,ENST00000447345,;RFC4,missense_variant,p.Pro15Leu,ENST00000418288,;RFC4,missense_variant,p.Pro15Leu,ENST00000411792,;RFC4,missense_variant,p.Pro15Leu,ENST00000427785,;RFC4,missense_variant,p.Pro15Leu,ENST00000448497,;RP11-573D15.3,upstream_gene_variant,,ENST00000434957,;RFC4,missense_variant,p.Pro15Leu,ENST00000449502,;RFC4,non_coding_transcript_exon_variant,,ENST00000494047,;RFC4,upstream_gene_variant,,ENST00000489028,;	A	ENST00000392481	Transcript	missense_variant	326/1448	44/1092	15/363	P/L	cCg/cTg	rs146612878,COSM78411	1		-1	RFC4	HGNC	HGNC:9972	protein_coding	YES	CCDS3283.1	ENSP00000376272	P35249		UPI0000125167	NM_181573.2	tolerated(0.33)		2/11													0,1						MODERATE		SNV	5		0,1	1										PASS		rs146612878	.												A	3	1	57	186804670	186804670	G	A	1	0	0	0	0	1	0	0	0	13418	1116	39	1		1	RFC4	3	186804670	Missense_Mutation	SNP	G	C3N-00560_TP	529075	186804670	11490889	289	18228											
RPL39L	0	.	GRCh38	chr3	187121271	187121271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcttggccaggaatcgCttaatggtgaaagtcttgtg	8	15	12	6	1	2	1	0	1	2	0	3	2	2	2	1	3	0	2	1	3	3	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.30G>T	p.Lys10Asn	p.K10N	ENST00000296277	3/3	124	111	13	102	102	0	strelka-varscan-mutect	RPL39L,missense_variant,p.Lys10Asn,ENST00000296277,NM_052969.1;RPL39L,missense_variant,p.Lys10Asn,ENST00000433055,;RPL39L,missense_variant,p.Lys10Asn,ENST00000455270,;	A	ENST00000296277	Transcript	missense_variant	433/756	30/156	10/51	K/N	aaG/aaT		1		-1	RPL39L	HGNC	HGNC:17094	protein_coding	YES	CCDS3286.1	ENSP00000296277	Q96EH5		UPI0000001BE0	NM_052969.1	deleterious(0.01)		3/3		HAMAP:MF_00629,hmmpanther:PTHR19970,hmmpanther:PTHR19970:SF1,Pfam_domain:PF00832,Gene3D:1vq8200,Superfamily_domains:0037553,PD007914																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	187121271	187121271	C	A	1	0	0	0	0	1	0	0	0	13846	796	28	2		2	RPL39L	3	187121271	Missense_Mutation	SNP	C	C3N-00560_TP	316601	187121271	11174288	290	18229											
GMNC	0	.	GRCh38	chr3	190855654	190855654	+	Missense_Mutation	SNP	G	G	T																															tgtgctggcgactcttctggGatgagatgcgagggcactgt																										C3N-00560_TP	C3N-00560_NB	G	G																c.646C>A	p.Pro216Thr	p.P216T	ENST00000442080	5/5	328	311	17	362	362	0	strelka-varscan-mutect	GMNC,missense_variant,p.Pro216Thr,ENST00000442080,NM_001146686.2;GMNC,non_coding_transcript_exon_variant,,ENST00000479491,;GMNC,non_coding_transcript_exon_variant,,ENST00000495042,;GMNC,downstream_gene_variant,,ENST00000456552,;	T	ENST00000442080	Transcript	missense_variant	646/3422	646/1005	216/334	P/T	Ccc/Acc	COSM160758	1		-1	GMNC	HGNC	HGNC:40049	protein_coding	YES	CCDS54697.1	ENSP00000406164	A6NCL1		UPI00017BE92F	NM_001146686.2	tolerated(0.11)		5/5		hmmpanther:PTHR13372,hmmpanther:PTHR13372:SF2											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	57	190855654	190855654	G	T	1	0	0	0	0	1	0	0	0	6372	1174	41	2		2	GMNC	3	190855654	Missense_Mutation	SNP	G	C3N-00560_TP	3734383	190855654	7439905	291	18230	389	2									
GMNC	0	.	GRCh38	chr3	190855655	190855655	+	Missense_Mutation	SNP	A	A	T																															gtgctggcgactcttctgggAtgagatgcgagggcactgta																								novel		C3N-00560_TP	C3N-00560_NB	A	A																c.645T>A	p.His215Gln	p.H215Q	ENST00000442080	5/5	331	314	17	360	360	0	strelka-mutect	GMNC,missense_variant,p.His215Gln,ENST00000442080,NM_001146686.2;GMNC,non_coding_transcript_exon_variant,,ENST00000479491,;GMNC,non_coding_transcript_exon_variant,,ENST00000495042,;GMNC,downstream_gene_variant,,ENST00000456552,;	T	ENST00000442080	Transcript	missense_variant	645/3422	645/1005	215/334	H/Q	caT/caA		1		-1	GMNC	HGNC	HGNC:40049	protein_coding	YES	CCDS54697.1	ENSP00000406164	A6NCL1		UPI00017BE92F	NM_001146686.2	tolerated(0.65)		5/5		hmmpanther:PTHR13372,hmmpanther:PTHR13372:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	190855655	190855655	A	T	1	0	0	0	0	1	0	0	0	6372	330	12	4		4	GMNC	3	190855655	Missense_Mutation	SNP	A	C3N-00560_TP	1	190855655	7439904	292	18231	389	2									
CPN2	0	.	GRCh38	chr3	194341973	194341973	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttgcagccacagcctctCtaggcagaagagctgggaga	10	6	14	11	1	1	3	0	0	1	3	2	4	1	3	2	2	4	4	2	2	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.730G>T	p.Glu244Ter	p.E244*	ENST00000323830	2/2	234	183	51	213	213	0	strelka-varscan-mutect	CPN2,stop_gained,p.Glu244Ter,ENST00000323830,NM_001291988.1,NM_001080513.3;CPN2,stop_gained,p.Glu244Ter,ENST00000429275,;	A	ENST00000323830	Transcript	stop_gained	820/3028	730/1638	244/545	E/*	Gag/Tag		1		-1	CPN2	HGNC	HGNC:2313	protein_coding	YES	CCDS33920.1	ENSP00000319464	P22792		UPI0001AE76B7	NM_001291988.1,NM_001080513.3			2/2		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF278,SMART_domains:SM00369,Superfamily_domains:SSF52058																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	194341973	194341973	C	A	1	0	0	0	0	0	1	0	0	3605	922	32	2		2	CPN2	3	194341973	Nonsense_Mutation	SNP	C	C3N-00560_TP	3486318	194341973	3953586	293	18232											
MUC4	0	.	GRCh38	chr3	195786254	195786254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggccggtgacaggaagtgGggtggcgtgagctgtggata	9	7	20	5	2	0	2	0	2	0	0	0	4	0	4	1	7	1	1	1	7	3	1	rs777096042		C3N-00560_TP	C3N-00560_NB	G	G																c.5326C>T	p.Pro1776Ser	p.P1776S	ENST00000463781	2/25	1118	1048	70	1018	1017	1	varscan-mutect	MUC4,missense_variant,p.Pro1776Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro1776Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro1776Ser,ENST00000478156,;MUC4,missense_variant,p.Pro1776Ser,ENST00000466475,;MUC4,missense_variant,p.Pro1776Ser,ENST00000477756,;MUC4,missense_variant,p.Pro1776Ser,ENST00000477086,;MUC4,missense_variant,p.Pro1776Ser,ENST00000480843,;MUC4,missense_variant,p.Pro1776Ser,ENST00000462323,;MUC4,missense_variant,p.Pro1776Ser,ENST00000470451,;MUC4,missense_variant,p.Pro1776Ser,ENST00000479406,;	A	ENST00000463781	Transcript	missense_variant	5786/17110	5326/16239	1776/5412	P/S	Cca/Tca	rs777096042,COSM4499027	1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	tolerated_low_confidence(0.2)		2/25													0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs777096042	.												A	3	1	57	195786254	195786254	G	A	1	0	0	0	0	1	0	0	0	9977	1232	43	3		3	MUC4	3	195786254	Missense_Mutation	SNP	G	C3N-00560_TP	1444281	195786254	2509305	294	18233											
TM4SF19	0	.	GRCh38	chr3	196324365	196324365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaaggaccatctttcaGagcaactccagaagtgacaa	17	6	8	10	0	2	3	1	1	1	2	3	4	3	4	2	1	2	2	2	1	5	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.355C>A	p.Leu119Met	p.L119M	ENST00000273695	4/5	219	179	40	209	209	0	strelka-varscan-mutect	TM4SF19,missense_variant,p.Leu119Met,ENST00000446879,;TM4SF19,missense_variant,p.Leu93Met,ENST00000454715,NM_001204898.1;TM4SF19,missense_variant,p.Leu119Met,ENST00000273695,NM_138461.3,NM_001204897.1;TM4SF19,upstream_gene_variant,,ENST00000440822,;TM4SF19-AS1,non_coding_transcript_exon_variant,,ENST00000452051,;TM4SF19-AS1,downstream_gene_variant,,ENST00000444939,;TM4SF19-AS1,downstream_gene_variant,,ENST00000420226,;TM4SF19-TCTEX1D2,missense_variant,p.Leu119Met,ENST00000442633,;	T	ENST00000273695	Transcript	missense_variant	481/1022	355/630	119/209	L/M	Ctg/Atg		1		-1	TM4SF19	HGNC	HGNC:25167	protein_coding	YES	CCDS3316.1	ENSP00000273695	Q96DZ7		UPI000013D9CC	NM_138461.3,NM_001204897.1	deleterious(0)		4/5		Pfam_domain:PF05805,hmmpanther:PTHR14198,hmmpanther:PTHR14198:SF22,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	196324365	196324365	G	T	1	0	0	0	0	1	0	0	0	16413	933	33	2		2	TM4SF19	3	196324365	Missense_Mutation	SNP	G	C3N-00560_TP	538111	196324365	1971194	295	18234											
NAT8L	0	.	GRCh38	chr4	2059788	2059788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcaggaggcggcgcgcCgcatcttctacgacggcatc	7	5	14	15	7	2	0	0	0	2	0	3	3	2	1	2	4	2	3	2	4	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.277C>A	p.Arg93Ser	p.R93S	ENST00000423729	1/3	189	107	82	175	175	0	strelka-varscan-mutect	NAT8L,missense_variant,p.Arg93Ser,ENST00000423729,NM_178557.3;NAT8L,upstream_gene_variant,,ENST00000331662,;	A	ENST00000423729	Transcript	missense_variant	277/5870	277/909	93/302	R/S	Cgc/Agc		1		1	NAT8L	HGNC	HGNC:26742	protein_coding	YES	CCDS3359.2	ENSP00000413064	Q8N9F0		UPI0000EE6EE5	NM_178557.3	deleterious(0.05)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR13947,hmmpanther:PTHR13947:SF11,Gene3D:3.40.630.30																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	2059788	2059788	C	A	1	0	0	0	0	1	0	0	0	10189	652	23	1		1	NAT8L	4	2059788	Missense_Mutation	SNP	C	C3N-00560_TP		2059788	188154767	296	18235											
HTT	0	.	GRCh38	chr4	3212589	3212589	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcactgtatcagtccctGcccactctggcccgggccct	4	9	10	18	1	2	0	1	0	1	0	3	0	3	0	4	2	2	3	4	2	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.6654G>T	p.=	p.L2218L	ENST00000355072	49/67	92	50	42	116	116	0	strelka-varscan-mutect	HTT,synonymous_variant,p.=,ENST00000355072,NM_002111.7;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,non_coding_transcript_exon_variant,,ENST00000509751,;	T	ENST00000355072	Transcript	synonymous_variant	6799/13474	6654/9429	2218/3142	L	ctG/ctT		1		1	HTT	HGNC	HGNC:4851	protein_coding	YES	CCDS43206.1	ENSP00000347184	P42858		UPI000013D567	NM_002111.7			49/67		hmmpanther:PTHR10170,hmmpanther:PTHR10170:SF10																	LOW	1	SNV	1			1										PASS		rs898508972	.												T	2	4	57	3212589	3212589	G	T	1	0	0	0	0	0	0	0	1	7353	1306	46	2		2	HTT	4	3212589	Silent	SNP	G	C3N-00560_TP	1152801	3212589	187001966	297	18236											
HTT	0	.	GRCh38	chr4	3228614	3228614	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgccccgtttctgtggcaGgtgtccatacactccgtgtg	5	12	12	12	2	1	0	0	0	1	0	3	0	3	0	4	2	2	2	4	2	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.7849-1G>T		p.X2617_splice	ENST00000355072		21	12	9	35	35	0	strelka-varscan-mutect	HTT,splice_acceptor_variant,,ENST00000355072,NM_002111.7;HTT,upstream_gene_variant,,ENST00000513806,;HTT,splice_acceptor_variant,,ENST00000510626,;HTT,upstream_gene_variant,,ENST00000512068,;	T	ENST00000355072	Transcript	splice_acceptor_variant	-/13474	7849/9429	2617/3142				1		1	HTT	HGNC	HGNC:4851	protein_coding	YES	CCDS43206.1	ENSP00000347184	P42858		UPI000013D567	NM_002111.7				57/66																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	57	3228614	3228614	G	T	1	0	0	0	0	0	0	1	0	7353	1014	35	2		2	HTT	4	3228614	Splice_Site	SNP	G	C3N-00560_TP	16025	3228614	186985941	298	18237											
DOK7	0	.	GRCh38	chr4	3473440	3473440	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtctacaaggacaagtcGgagcgtatcaagggcctgcg	10	7	14	10	3	2	0	1	0	1	0	3	2	2	2	1	4	3	1	1	4	5	2			C3N-00560_TP	C3N-00560_NB	G	G																c.135G>T	p.=	p.S45S	ENST00000340083	3/7	184	105	79	193	193	0	strelka-varscan-mutect	DOK7,synonymous_variant,p.=,ENST00000340083,NM_173660.4;DOK7,synonymous_variant,p.=,ENST00000507039,NM_001164673.1;DOK7,intron_variant,,ENST00000503688,;DOK7,non_coding_transcript_exon_variant,,ENST00000511267,;	T	ENST00000340083	Transcript	synonymous_variant	200/2562	135/1515	45/504	S	tcG/tcT	COSM1054932,COSM1594534	1		1	DOK7	HGNC	HGNC:26594	protein_coding	YES	CCDS3370.2	ENSP00000344432	Q18PE1		UPI0000DA4A17	NM_173660.4			3/7		Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR21636,SMART_domains:SM00233,Superfamily_domains:SSF50729											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1336271146	.												T	2	4	57	3473440	3473440	G	T	1	0	0	0	0	0	0	0	1	4517	1103	39	1		1	DOK7	4	3473440	Silent	SNP	G	C3N-00560_TP	244826	3473440	186741115	299	18238											
DOK7	0	.	GRCh38	chr4	3485623	3485623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtccgaggcatctcccccaCcaagggcccctttgggctgc	5	7	11	18	2	1	0	0	0	1	0	3	1	2	0	6	3	1	2	6	3	1	1			C3N-00560_TP	C3N-00560_NB	C	C																c.617C>T	p.Thr206Ile	p.T206I	ENST00000340083	5/7	48	31	17	72	72	0	strelka-varscan-mutect	DOK7,missense_variant,p.Thr206Ile,ENST00000340083,NM_173660.4;DOK7,synonymous_variant,p.=,ENST00000507039,NM_001164673.1;DOK7,non_coding_transcript_exon_variant,,ENST00000503688,;DOK7,non_coding_transcript_exon_variant,,ENST00000515886,;DOK7,non_coding_transcript_exon_variant,,ENST00000513995,;	T	ENST00000340083	Transcript	missense_variant	682/2562	617/1515	206/504	T/I	aCc/aTc	COSM5264754,COSM5264755	1		1	DOK7	HGNC	HGNC:26594	protein_coding	YES	CCDS3370.2	ENSP00000344432	Q18PE1		UPI0000DA4A17	NM_173660.4	deleterious(0)		5/7		PROSITE_profiles:PS51064,hmmpanther:PTHR21636,Superfamily_domains:SSF50729											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1338126929	.												T	3	4	57	3485623	3485623	C	T	1	0	0	0	0	1	0	0	0	4517	507	18	3		3	DOK7	4	3485623	Missense_Mutation	SNP	C	C3N-00560_TP	12183	3485623	186728932	300	18239											
OTOP1	0	.	GRCh38	chr4	4226587	4226587	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgccgtcaggaagcacAgcaggtcgctcttgctcacg	8	7	13	13	4	3	1	2	1	1	0	4	2	3	2	1	2	4	4	1	2	1	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.278T>A	p.Leu93Gln	p.L93Q	ENST00000296358	1/6	172	125	47	187	187	0	strelka-varscan-mutect	OTOP1,missense_variant,p.Leu93Gln,ENST00000296358,NM_177998.1;	T	ENST00000296358	Transcript	missense_variant	303/1864	278/1839	93/612	L/Q	cTg/cAg		1		-1	OTOP1	HGNC	HGNC:19656	protein_coding	YES	CCDS3372.1	ENSP00000296358	Q7RTM1		UPI0000186945	NM_177998.1	tolerated(0.06)		1/6		hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF19,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	4226587	4226587	A	T	1	0	0	0	0	1	0	0	0	11373	188	7	4		4	OTOP1	4	4226587	Missense_Mutation	SNP	A	C3N-00560_TP	740964	4226587	185987968	301	18240											
C4orf50	0	.	GRCh38	chr4	5988671	5988671	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctagagcgtgcatcttGgcttttccctggaggtgctc	4	15	12	10	1	2	1	0	0	2	1	4	2	3	2	1	3	3	3	1	3	1	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3375C>T	p.=	p.A1125A	ENST00000531445	6/12	157	90	67	220	220	0	strelka-varscan-mutect	C4orf50,synonymous_variant,p.=,ENST00000531445,;C4orf50,5_prime_UTR_variant,,ENST00000324058,;	A	ENST00000531445	Transcript	synonymous_variant	3451/6860	3375/4527	1125/1508	A	gcC/gcT		1		-1	C4orf50	HGNC	HGNC:33766	protein_coding	YES		ENSP00000437121		E9PNW5					6/12		hmmpanther:PTHR36866																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	5988671	5988671	G	A	1	0	0	0	0	0	0	0	1	2089	1335	47	3		3	C4orf50	4	5988671	Silent	SNP	G	C3N-00560_TP	1762084	5988671	184225884	302	18241											
JAKMIP1	0	.	GRCh38	chr4	6105953	6105953	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcctcctgcagccgctcGcgcagtttgcccacctgcag	4	9	10	18	4	0	0	0	0	0	0	3	0	1	0	5	0	4	5	5	0	0	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.144C>A	p.=	p.R48R	ENST00000409021	3/21	48	20	28	57	57	0	strelka-varscan-mutect	JAKMIP1,synonymous_variant,p.=,ENST00000409021,NM_001099433.1;JAKMIP1,synonymous_variant,p.=,ENST00000282924,NM_144720.3;JAKMIP1,synonymous_variant,p.=,ENST00000409831,NM_001306133.1;JAKMIP1,intron_variant,,ENST00000409371,;JAKMIP1,intron_variant,,ENST00000410077,NM_001306134.1;JAKMIP1,intron_variant,,ENST00000457227,;JAKMIP1,synonymous_variant,p.=,ENST00000473053,;	T	ENST00000409021	Transcript	synonymous_variant	594/2975	144/2496	48/831	R	cgC/cgA		1		-1	JAKMIP1	HGNC	HGNC:26460	protein_coding	YES	CCDS47005.1	ENSP00000386711	Q96N16		UPI00015734C1	NM_001099433.1			3/21		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF6																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	6105953	6105953	G	T	1	0	0	0	0	0	0	0	1	7853	1074	38	1		1	JAKMIP1	4	6105953	Silent	SNP	G	C3N-00560_TP	117282	6105953	184108602	303	18242											
SH3TC1	0	.	GRCh38	chr4	8214487	8214487	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttaaggaattatcagccAggctgctgtccatccacagt	10	11	8	12	0	2	0	1	0	1	0	4	1	4	1	3	2	2	2	3	2	3	2	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.388A>C	p.=	p.R130R	ENST00000245105	5/18	169	93	76	197	197	0	strelka-varscan-mutect	SH3TC1,synonymous_variant,p.=,ENST00000245105,NM_018986.3;SH3TC1,synonymous_variant,p.=,ENST00000509119,;SH3TC1,downstream_gene_variant,,ENST00000457650,;SH3TC1,upstream_gene_variant,,ENST00000508641,;AC104650.1,downstream_gene_variant,,ENST00000625822,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000503284,;SH3TC1,downstream_gene_variant,,ENST00000510763,;SH3TC1,synonymous_variant,p.=,ENST00000502669,;SH3TC1,3_prime_UTR_variant,,ENST00000515682,NM_001318480.1;SH3TC1,non_coding_transcript_exon_variant,,ENST00000506360,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000512100,;SH3TC1,downstream_gene_variant,,ENST00000504223,;SH3TC1,upstream_gene_variant,,ENST00000507891,;	C	ENST00000245105	Transcript	synonymous_variant	455/4226	388/4011	130/1336	R	Agg/Cgg		1		1	SH3TC1	HGNC	HGNC:26009	protein_coding	YES	CCDS3399.1	ENSP00000245105	Q8TE82		UPI000013CB93	NM_018986.3			5/18		hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF3																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	57	8214487	8214487	A	C	1	0	0	0	0	0	0	0	1	14520	179	7	5		5	SH3TC1	4	8214487	Silent	SNP	A	C3N-00560_TP	2108534	8214487	182000068	304	18243											
ZNF518B	0	.	GRCh38	chr4	10444864	10444864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaacactgtttttaaataCagatgctagagaatgacctt	16	13	6	6	0	0	3	0	1	0	2	0	4	0	3	1	0	3	2	1	0	7	7	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1465G>T	p.Val489Leu	p.V489L	ENST00000326756	3/3	81	47	34	101	101	0	strelka-varscan-mutect	ZNF518B,missense_variant,p.Val489Leu,ENST00000326756,NM_053042.2;ZNF518B,downstream_gene_variant,,ENST00000507515,;	A	ENST00000326756	Transcript	missense_variant	1904/6894	1465/3225	489/1074	V/L	Gta/Tta		1		-1	ZNF518B	HGNC	HGNC:29365	protein_coding	YES	CCDS33960.1	ENSP00000317614	Q9C0D4		UPI0000160B97	NM_053042.2	tolerated(0.62)		3/3		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF188																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	57	10444864	10444864	C	A	1	0	0	0	0	1	0	0	0	18535	478	17	2		2	ZNF518B	4	10444864	Missense_Mutation	SNP	C	C3N-00560_TP	2230377	10444864	179769691	305	18244											
KLB	0	.	GRCh38	chr4	39407677	39407677	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattacaattcacaacccatAtctagtggcttggcatgggt	11	12	9	9	0	2	0	1	0	1	0	2	1	2	0	1	3	2	2	1	3	5	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.728A>T	p.Tyr243Phe	p.Y243F	ENST00000257408	1/5	128	51	77	118	118	0	strelka-varscan-mutect	KLB,missense_variant,p.Tyr243Phe,ENST00000257408,NM_175737.3;MIR5591,upstream_gene_variant,,ENST00000578248,;	T	ENST00000257408	Transcript	missense_variant	825/6082	728/3135	243/1044	Y/F	tAt/tTt		1		1	KLB	HGNC	HGNC:15527	protein_coding	YES	CCDS3451.1	ENSP00000257408	Q86Z14		UPI000000D726	NM_175737.3	tolerated(0.2)		1/5		Gene3D:3.20.20.80,Pfam_domain:PF00232,hmmpanther:PTHR10353,hmmpanther:PTHR10353:SF68,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	39407677	39407677	A	T	1	0	0	0	0	1	0	0	0	8197	449	16	4		4	KLB	4	39407677	Missense_Mutation	SNP	A	C3N-00560_TP	28962813	39407677	150806878	306	18245											
N4BP2	0	.	GRCh38	chr4	40103075	40103076	+	Frame_Shift_Ins	INS	-	-	T																															acacttccccaacaaaagtaINStggagaaataaagatggaac																								novel		C3N-00560_TP	C3N-00560_NB	-	-																c.1231dupT	p.Trp411LeufsTer4	p.W411Lfs*4	ENST00000261435	4/18	245	102	143	228	228	0	sindel-varindel-pindel	N4BP2,frameshift_variant,p.Trp411LeufsTer4,ENST00000261435,NM_018177.4;N4BP2,frameshift_variant,p.Trp58LeufsTer4,ENST00000513269,;N4BP2,downstream_gene_variant,,ENST00000515550,;N4BP2,3_prime_UTR_variant,,ENST00000511480,NM_001318359.1;	T	ENST00000261435	Transcript	frameshift_variant	1646-1647/9744	1230-1231/5313	410-411/1770	-/X	-/T		1		1	N4BP2	HGNC	HGNC:29851	protein_coding	YES	CCDS3457.1	ENSP00000261435	Q86UW6		UPI00001A962C	NM_018177.4			4/18		hmmpanther:PTHR13308,hmmpanther:PTHR13308:SF21																	HIGH	1	insertion	5	1		1										PASS		.	.												T	7	5	57	40103075	40103075	-	T	1	0	1	1	0	0	0	0	0	10114	436	16	0		0	N4BP2	4	40103075	Frame_Shift_Ins	INS	-	C3N-00560_TP	695398	40103075	150111480	307	18246											
ATP10D	0	.	GRCh38	chr4	47546686	47546686	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagattttatagacacagtcAgtggttccctcagcaatatg	13	12	8	8	0	2	2	2	0	0	2	3	2	3	2	1	1	1	2	1	1	5	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1459A>T	p.Ser487Cys	p.S487C	ENST00000273859	10/23	415	213	202	301	300	1	strelka-varscan-mutect	ATP10D,missense_variant,p.Ser487Cys,ENST00000273859,NM_020453.3;ATP10D,missense_variant,p.Ser472Cys,ENST00000504445,;ATP10D,missense_variant,p.Ser135Cys,ENST00000503288,;	T	ENST00000273859	Transcript	missense_variant	1728/6655	1459/4281	487/1426	S/C	Agt/Tgt		1		1	ATP10D	HGNC	HGNC:13549	protein_coding	YES	CCDS3476.1	ENSP00000273859	Q9P241		UPI00001AE9B7	NM_020453.3	tolerated(0.27)		10/23		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF84,TIGRFAM_domain:TIGR01652																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	47546686	47546686	A	T	1	0	0	0	0	1	0	0	0	1270	188	7	4		4	ATP10D	4	47546686	Missense_Mutation	SNP	A	C3N-00560_TP	7443611	47546686	142667869	308	18247											
KIAA1211	0	.	GRCh38	chr4	56316556	56316556	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccgccggccaccctcgccCccaggccccgaggaaaggaa	9	1	12	19	4	0	0	0	0	0	0	1	4	0	2	8	4	0	0	8	4	2	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3054C>A	p.=	p.P1018P	ENST00000504228	6/9	166	116	50	272	270	2	strelka-varscan-mutect	KIAA1211,synonymous_variant,p.=,ENST00000504228,;KIAA1211,synonymous_variant,p.=,ENST00000541073,;KIAA1211,synonymous_variant,p.=,ENST00000264229,NM_020722.1;KIAA1211,downstream_gene_variant,,ENST00000636006,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;MRPL22P1,downstream_gene_variant,,ENST00000505398,;	A	ENST00000504228	Transcript	synonymous_variant	3159/4628	3054/3702	1018/1233	P	ccC/ccA		1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309				6/9		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs1324528359	.												A	2	1	57	56316556	56316556	C	A	1	0	0	0	0	0	0	0	1	8107	610	22	2		2	KIAA1211	4	56316556	Silent	SNP	C	C3N-00560_TP	8769870	56316556	133897999	309	18248											
UGT2B4	0	.	GRCh38	chr4	69486667	69486667	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattgagtcctaaagtatcTggtttattcccatcaaatct	11	16	6	8	0	3	1	1	1	2	0	5	1	5	1	2	1	0	3	2	1	6	7	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1032A>T	p.=	p.P344P	ENST00000305107	4/6	62	49	13	128	128	0	strelka-varscan-mutect	UGT2B4,synonymous_variant,p.=,ENST00000305107,NM_021139.2;UGT2B4,synonymous_variant,p.=,ENST00000512583,NM_001297615.1;UGT2B4,non_coding_transcript_exon_variant,,ENST00000506580,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000502655,;UGT2B4,downstream_gene_variant,,ENST00000503836,;	A	ENST00000305107	Transcript	synonymous_variant	1079/2103	1032/1587	344/528	P	ccA/ccT		1		-1	UGT2B4	HGNC	HGNC:12553	protein_coding	YES	CCDS43234.1	ENSP00000305221	P06133		UPI000000087F	NM_021139.2			4/6		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF198,Pfam_domain:PF00201,Gene3D:3.40.50.2000,Superfamily_domains:SSF53756																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	69486667	69486667	T	A	1	0	0	0	0	0	0	0	1	17485	1567	55	4		4	UGT2B4	4	69486667	Silent	SNP	T	C3N-00560_TP	13170111	69486667	120727888	310	18249											
PRR27	0	.	GRCh38	chr4	70158795	70158795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgagcctgctgcagaGgcacctgttggagtggagcc	7	7	16	11	0	0	2	0	1	0	1	0	4	0	4	3	3	5	6	3	3	0	1			C3N-00560_TP	C3N-00560_NB	G	G																c.543G>T	p.Glu181Asp	p.E181D	ENST00000344526	3/5	167	132	35	274	273	1	strelka-varscan-mutect	PRR27,missense_variant,p.Glu181Asp,ENST00000344526,NM_214711.3;PRR27,missense_variant,p.Glu181Asp,ENST00000502294,;PRR27,downstream_gene_variant,,ENST00000502441,;PRR27,missense_variant,p.Glu23Asp,ENST00000512173,;PRR27,3_prime_UTR_variant,,ENST00000509633,;	T	ENST00000344526	Transcript	missense_variant	732/3127	543/660	181/219	E/D	gaG/gaT	COSM296350	1		1	PRR27	HGNC	HGNC:33193	protein_coding	YES	CCDS3535.1	ENSP00000343172	Q6MZM9		UPI0000036170	NM_214711.3	tolerated(0.37)		3/5		Low_complexity_(Seg):seg,hmmpanther:PTHR39415,hmmpanther:PTHR39415:SF1											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	57	70158795	70158795	G	T	1	0	0	0	0	1	0	0	0	12734	991	35	2		2	PRR27	4	70158795	Missense_Mutation	SNP	G	C3N-00560_TP	672128	70158795	120055760	311	18250											
SMR3A	0	.	GRCh38	chr4	70362139	70362139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatcactgacttggatcttGggcctttgggctcttgcagc	7	13	11	10	0	3	1	1	1	2	0	3	2	3	2	1	3	2	2	1	3	1	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.24G>T	p.Leu8Phe	p.L8F	ENST00000226460	2/3	115	90	25	235	234	1	strelka-varscan-mutect	SMR3A,missense_variant,p.Leu8Phe,ENST00000226460,NM_012390.3;	T	ENST00000226460	Transcript	missense_variant	120/665	24/405	8/134	L/F	ttG/ttT		1		1	SMR3A	HGNC	HGNC:19216	protein_coding	YES	CCDS34000.1	ENSP00000226460	Q99954		UPI000013C8A0	NM_012390.3	deleterious_low_confidence(0)		2/3		Pfam_domain:PF15621,PROSITE_profiles:PS51257,hmmpanther:PTHR14179,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	70362139	70362139	G	T	1	0	0	0	0	1	0	0	0	15132	1339	47	2		2	SMR3A	4	70362139	Missense_Mutation	SNP	G	C3N-00560_TP	203344	70362139	119852416	312	18251											
ENAM	0	.	GRCh38	chr4	70644784	70644784	+	Frame_Shift_Del	DEL	C	C	-																															ttgatgcagatgaacacagtCcatttgaattccttcaaaga																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3359delC	p.Pro1120HisfsTer38	p.P1120Hfs*38	ENST00000396073	9/9	70	54	16	107	107	0	sindel-varindel-pindel	ENAM,frameshift_variant,p.Pro1120HisfsTer38,ENST00000396073,NM_031889.2;ENAM,intron_variant,,ENST00000472903,;ENAM,downstream_gene_variant,,ENST00000472597,;	-	ENST00000396073	Transcript	frameshift_variant	3639/5679	3358/3429	1120/1142	P/X	Cca/ca		1		1	ENAM	HGNC	HGNC:3344	protein_coding	YES	CCDS3544.2	ENSP00000379383	Q9NRM1		UPI000013CE60	NM_031889.2			9/9		hmmpanther:PTHR16784:SF2,hmmpanther:PTHR16784																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	57	70644784	70644784	C	-	1	0	1	0	1	0	0	0	0	4954	855	30	0		0	ENAM	4	70644784	Frame_Shift_Del	DEL	C	C3N-00560_TP	282645	70644784	119569771	313	18252											
GC	0	.	GRCh38	chr4	71756876	71756876	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacttagaattctttgtGgataaattgtcacagagttt	13	16	7	5	0	3	2	2	0	1	2	3	3	3	3	0	1	1	1	0	1	5	6			C3N-00560_TP	C3N-00560_NB	G	G																c.927C>A	p.=	p.S309S	ENST00000504199	9/14	177	125	52	275	273	2	strelka-varscan-mutect	GC,synonymous_variant,p.=,ENST00000273951,NM_000583.3,NM_001204306.1;GC,synonymous_variant,p.=,ENST00000504199,NM_001204307.1;GC,synonymous_variant,p.=,ENST00000513476,;RNA5SP163,downstream_gene_variant,,ENST00000410304,;GC,non_coding_transcript_exon_variant,,ENST00000503472,;GC,upstream_gene_variant,,ENST00000503364,;GC,synonymous_variant,p.=,ENST00000509740,;	T	ENST00000504199	Transcript	synonymous_variant	1022/1777	927/1482	309/493	S	tcC/tcA	COSM5603640,COSM5603641	1		-1	GC	HGNC	HGNC:4187	protein_coding	YES	CCDS56332.1	ENSP00000421725	P02774		UPI0001D3B4EE	NM_001204307.1			9/14		Gene3D:1.10.246.10,Pfam_domain:PF00273,PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF11,SMART_domains:SM00103,Superfamily_domains:SSF48552											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	57	71756876	71756876	G	T	1	0	0	0	0	0	0	0	1	6152	1335	47	2		2	GC	4	71756876	Silent	SNP	G	C3N-00560_TP	1112092	71756876	118457679	314	18253											
SHROOM3	0	.	GRCh38	chr4	76741346	76741346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcgtggccgaccggcGccgtctcttcgagcgcgatg	5	6	16	14	8	1	0	0	0	1	0	3	4	1	0	3	2	3	1	3	2	0	1	rs374140337		C3N-00560_TP	C3N-00560_NB	G	G																c.3173G>T	p.Arg1058Leu	p.R1058L	ENST00000296043	5/11	343	252	91	522	522	0	strelka-varscan-mutect	SHROOM3,missense_variant,p.Arg1058Leu,ENST00000296043,NM_020859.3;SHROOM3,intron_variant,,ENST00000469923,;SHROOM3,downstream_gene_variant,,ENST00000473602,;SHROOM3,downstream_gene_variant,,ENST00000481002,;SHROOM3,non_coding_transcript_exon_variant,,ENST00000486758,;	T	ENST00000296043	Transcript	missense_variant	4126/11020	3173/5991	1058/1996	R/L	cGc/cTc	rs374140337	1		1	SHROOM3	HGNC	HGNC:30422	protein_coding	YES	CCDS3579.2	ENSP00000296043	Q8TF72		UPI0000E5AC1C	NM_020859.3	deleterious(0)		5/11		hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012,Pfam_domain:PF08688																	MODERATE	1	SNV	1			1										PASS		rs374140337	.												T	3	4	57	76741346	76741346	G	T	1	0	0	0	0	1	0	0	0	14558	1087	38	1		1	SHROOM3	4	76741346	Missense_Mutation	SNP	G	C3N-00560_TP	4984470	76741346	113473209	315	18254											
FRAS1	0	.	GRCh38	chr4	78237615	78237615	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcaatgtgcctttgagAaggtacggtatcctaattgt	10	13	9	9	1	1	1	1	1	0	1	2	2	2	1	3	2	2	2	3	2	5	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.214A>T	p.Lys72Ter	p.K72*	ENST00000512123	3/74	21	16	5	51	51	0	strelka-varscan-mutect	FRAS1,stop_gained,p.Lys72Ter,ENST00000512123,NM_025074.6;FRAS1,stop_gained,p.Lys72Ter,ENST00000325942,NM_001166133.1;FRAS1,stop_gained,p.Lys72Ter,ENST00000264899,;	T	ENST00000512123	Transcript	stop_gained,splice_region_variant	654/15624	214/12039	72/4012	K/*	Aag/Tag		1		1	FRAS1	HGNC	HGNC:19185	protein_coding	YES	CCDS54771.1	ENSP00000422834	Q86XX4		UPI000021D4C2	NM_025074.6			3/74		PROSITE_patterns:PS01208,PROSITE_profiles:PS50184,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF29,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603																	HIGH	1	SNV	5			1										PASS		rs1417951751	.												T	4	4	57	78237615	78237615	A	T	1	0	0	0	0	0	1	0	0	5908	260	9	4		4	FRAS1	4	78237615	Nonsense_Mutation	SNP	A	C3N-00560_TP	1496269	78237615	111976940	316	18255											
FRAS1	0	.	GRCh38	chr4	78450161	78450161	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccaagggtctgtagcAcgcatcacagaacagcactt	11	9	8	13	1	3	1	1	0	2	1	4	1	4	1	1	1	3	4	1	1	3	3	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.6285A>G	p.=	p.A2095A	ENST00000512123	45/74	61	41	20	94	94	0	strelka-varscan-mutect	FRAS1,synonymous_variant,p.=,ENST00000512123,NM_025074.6;FRAS1,downstream_gene_variant,,ENST00000325942,NM_001166133.1;FRAS1,downstream_gene_variant,,ENST00000264899,;FRAS1,downstream_gene_variant,,ENST00000510944,;FRAS1,non_coding_transcript_exon_variant,,ENST00000509802,;	G	ENST00000512123	Transcript	synonymous_variant	6725/15624	6285/12039	2095/4012	A	gcA/gcG		1		1	FRAS1	HGNC	HGNC:19185	protein_coding	YES	CCDS54771.1	ENSP00000422834	Q86XX4		UPI000021D4C2	NM_025074.6			45/74		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF29																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	57	78450161	78450161	A	G	1	0	0	0	0	0	0	0	1	5908	146	6	5		5	FRAS1	4	78450161	Silent	SNP	A	C3N-00560_TP	212546	78450161	111764394	317	18256											
PRDM8	0	.	GRCh38	chr4	80202340	80202340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagcggcagcggcggcggcgGcggccaccaggaggcggagc	6	1	21	13	7	0	0	0	0	0	0	0	2	0	2	2	9	3	1	2	9	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.878G>T	p.Gly293Val	p.G293V	ENST00000339711	10/10	158	109	49	207	207	0	strelka-varscan-mutect	PRDM8,missense_variant,p.Gly293Val,ENST00000339711,NM_020226.3;PRDM8,missense_variant,p.Gly293Val,ENST00000504452,;PRDM8,missense_variant,p.Gly293Val,ENST00000415738,NM_001099403.1;PRDM8,missense_variant,p.Gly293Val,ENST00000515013,;	T	ENST00000339711	Transcript	missense_variant	2109/4095	878/2070	293/689	G/V	gGc/gTc		1		1	PRDM8	HGNC	HGNC:13993	protein_coding	YES	CCDS43243.1	ENSP00000339764	Q9NQV8	A0A024RDC4	UPI0000422A1D	NM_020226.3	tolerated_low_confidence(0.34)		10/10		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	80202340	80202340	G	T	1	0	0	0	0	1	0	0	0	12594	1203	42	2		2	PRDM8	4	80202340	Missense_Mutation	SNP	G	C3N-00560_TP	1752179	80202340	110012215	318	18257											
PRDM8	0	.	GRCh38	chr4	80202396	80202396	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgccacgggcggcggcaaaGgaaagaggaaattcccggag	12	3	16	10	5	0	1	0	0	0	1	2	4	1	4	2	6	0	1	2	6	3	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.934G>T	p.Gly312Ter	p.G312*	ENST00000339711	10/10	127	83	44	199	199	0	strelka-varscan-mutect	PRDM8,stop_gained,p.Gly312Ter,ENST00000339711,NM_020226.3;PRDM8,stop_gained,p.Gly312Ter,ENST00000504452,;PRDM8,stop_gained,p.Gly312Ter,ENST00000415738,NM_001099403.1;PRDM8,stop_gained,p.Gly312Ter,ENST00000515013,;	T	ENST00000339711	Transcript	stop_gained	2165/4095	934/2070	312/689	G/*	Gga/Tga		1		1	PRDM8	HGNC	HGNC:13993	protein_coding	YES	CCDS43243.1	ENSP00000339764	Q9NQV8	A0A024RDC4	UPI0000422A1D	NM_020226.3			10/10		hmmpanther:PTHR16516,hmmpanther:PTHR16516:SF7																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	80202396	80202396	G	T	1	0	0	0	0	0	1	0	0	12594	1001	35	2		2	PRDM8	4	80202396	Nonsense_Mutation	SNP	G	C3N-00560_TP	56	80202396	110012159	319	18258											
C4orf22	0	.	GRCh38	chr4	80870028	80870028	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtgacagaaattctcatggGcaagagatatcaggatacat	15	9	10	7	1	2	3	2	1	1	2	3	5	2	4	0	2	1	1	0	2	4	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.420G>T	p.=	p.G140G	ENST00000508675	5/7	92	70	22	166	166	0	strelka-mutect	C4orf22,synonymous_variant,p.=,ENST00000358105,NM_152770.2;C4orf22,synonymous_variant,p.=,ENST00000508675,NM_001206997.1;C4orf22,upstream_gene_variant,,ENST00000508314,;C4orf22,3_prime_UTR_variant,,ENST00000513920,;	T	ENST00000508675	Transcript	synonymous_variant	420/753	420/753	140/250	G	ggG/ggT		1		1	C4orf22	HGNC	HGNC:28554	protein_coding	YES	CCDS56336.1	ENSP00000425786	Q6V702		UPI0000D61589	NM_001206997.1			5/7		Pfam_domain:PF14713,hmmpanther:PTHR33588,hmmpanther:PTHR33588:SF1																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	80870028	80870028	G	T	1	0	0	0	0	0	0	0	1	2080	1190	42	2		2	C4orf22	4	80870028	Silent	SNP	G	C3N-00560_TP	667632	80870028	109344527	320	18259											
SPARCL1	0	.	GRCh38	chr4	87479452	87479452	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctttaattccaaagcagtgGccccactccttcagggtgat	9	12	8	12	0	2	1	1	1	1	0	4	1	4	1	4	2	1	1	4	2	2	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1944C>A	p.=	p.G648G	ENST00000418378	11/12	83	52	31	116	116	0	strelka-varscan-mutect	SPARCL1,synonymous_variant,p.=,ENST00000418378,NM_001128310.2;SPARCL1,synonymous_variant,p.=,ENST00000282470,NM_004684.5;SPARCL1,synonymous_variant,p.=,ENST00000503414,NM_001291977.1,NM_001291976.1;	T	ENST00000418378	Transcript	synonymous_variant	2516/2994	1944/1995	648/664	G	ggC/ggA		1		-1	SPARCL1	HGNC	HGNC:11220	protein_coding	YES	CCDS3622.1	ENSP00000414856	Q14515	A0A024RDE1	UPI000013DCE3	NM_001128310.2			11/12		PROSITE_profiles:PS50222,hmmpanther:PTHR13866:SF16,hmmpanther:PTHR13866,PIRSF_domain:PIRSF002574,Gene3D:1.10.238.10,Pfam_domain:PF10591,Superfamily_domains:SSF47473																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	57	87479452	87479452	G	T	1	0	0	0	0	0	0	0	1	15327	1190	42	2		2	SPARCL1	4	87479452	Silent	SNP	G	C3N-00560_TP	6609424	87479452	102735103	321	18260											
CCDC109B	0	.	GRCh38	chr4	109660230	109660230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atagacatggccttcccttgGtaacacttaccttgccatct	9	13	6	13	0	1	1	0	0	1	1	2	1	2	1	4	2	3	1	4	2	3	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.211G>T	p.Val71Leu	p.V71L	ENST00000394650	3/8	124	58	66	82	82	0	strelka-varscan-mutect	CCDC109B,missense_variant,p.Val71Leu,ENST00000394650,NM_017918.4;CCDC109B,non_coding_transcript_exon_variant,,ENST00000452915,;CCDC109B,non_coding_transcript_exon_variant,,ENST00000515114,;CCDC109B,non_coding_transcript_exon_variant,,ENST00000472310,;	T	ENST00000394650	Transcript	missense_variant	344/2278	211/1011	71/336	V/L	Gta/Tta		1		1	CCDC109B	HGNC	HGNC:26076	protein_coding	YES	CCDS3683.2	ENSP00000378145	Q9NWR8		UPI000037446B	NM_017918.4	tolerated(0.17)		3/8		hmmpanther:PTHR13462,hmmpanther:PTHR13462:SF6																	MODERATE	1	SNV	1			1										PASS		rs1229246607	.												T	3	4	57	109660230	109660230	G	T	1	0	0	0	0	1	0	0	0	2440	1261	44	2		2	CCDC109B	4	109660230	Missense_Mutation	SNP	G	C3N-00560_TP	22180778	109660230	80554325	322	18261											
ZGRF1	0	.	GRCh38	chr4	112547383	112547383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagctgtttgggatccccaaCaagaatcagcttttcacact	11	12	7	11	0	2	1	2	0	0	1	3	2	3	2	2	1	3	3	2	1	4	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.5500G>A	p.Val1834Ile	p.V1834I	ENST00000505019	24/28	184	90	94	144	144	0	strelka-varscan-mutect	ZGRF1,missense_variant,p.Val1834Ile,ENST00000505019,NM_018392.4;ZGRF1,missense_variant,p.Val1834Ile,ENST00000445203,;ZGRF1,5_prime_UTR_variant,,ENST00000612287,;RP11-402J6.1,downstream_gene_variant,,ENST00000504009,;ZGRF1,3_prime_UTR_variant,,ENST00000445413,;ZGRF1,non_coding_transcript_exon_variant,,ENST00000506675,;	T	ENST00000505019	Transcript	missense_variant	5626/6652	5500/6315	1834/2104	V/I	Gtt/Att		1		-1	ZGRF1	HGNC	HGNC:25654	protein_coding	YES	CCDS3700.2	ENSP00000424737	Q86YA3		UPI0000EE2F8F	NM_018392.4	deleterious(0)		24/28		Gene3D:3.40.50.300,Pfam_domain:PF13086,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF325,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		rs1476930091	.												T	3	4	57	112547383	112547383	C	T	1	0	0	0	0	1	0	0	0	18253	478	17	3		3	ZGRF1	4	112547383	Missense_Mutation	SNP	C	C3N-00560_TP	2887153	112547383	77667172	323	18262											
ANK2	0	.	GRCh38	chr4	113348306	113348306	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcaagaacaggaggaaGaggtaattttatgacagtgt	16	9	12	4	0	1	4	1	1	0	3	1	6	1	6	0	3	1	1	0	3	5	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4402G>T	p.Glu1468Ter	p.E1468*	ENST00000357077	36/46	378	212	166	298	298	0	strelka-varscan-mutect	ANK2,stop_gained,p.Glu1468Ter,ENST00000357077,NM_001148.4;ANK2,stop_gained,p.Glu1435Ter,ENST00000264366,;ANK2,stop_gained,p.Glu1459Ter,ENST00000506722,NM_001127493.1;ANK2,stop_gained,p.Glu1468Ter,ENST00000394537,NM_020977.3;ANK2,stop_gained,p.Glu1483Ter,ENST00000504454,;ANK2,stop_gained,p.Glu1381Ter,ENST00000503423,;ANK2,stop_gained,p.Glu644Ter,ENST00000509550,;ANK2,stop_gained,p.Glu120Ter,ENST00000510275,;ANK2,stop_gained,p.Glu121Ter,ENST00000504415,;ANK2,intron_variant,,ENST00000514960,;ANK2,splice_region_variant,,ENST00000508007,;ANK2,splice_region_variant,,ENST00000512298,;	T	ENST00000357077	Transcript	stop_gained,splice_region_variant	4455/14196	4402/11874	1468/3957	E/*	Gag/Tag		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4			36/46		Low_complexity_(Seg):seg,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	113348306	113348306	G	T	1	0	0	0	0	0	1	0	0	721	956	33	2		2	ANK2	4	113348306	Nonsense_Mutation	SNP	G	C3N-00560_TP	800923	113348306	76866249	324	18263											
ANK2	0	.	GRCh38	chr4	113354446	113354446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgcctgtttcaccctccgGaagaacggacaagcaccaac	11	7	8	15	2	1	1	1	0	0	1	2	3	2	3	4	2	4	2	4	2	4	2	rs764180060		C3N-00560_TP	C3N-00560_NB	G	G																c.5828G>T	p.Gly1943Val	p.G1943V	ENST00000357077	38/46	257	131	126	197	197	0	strelka-varscan-mutect	ANK2,missense_variant,p.Gly1943Val,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Gly1910Val,ENST00000264366,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000612754,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;ANK2,downstream_gene_variant,,ENST00000512298,;	T	ENST00000357077	Transcript	missense_variant	5881/14196	5828/11874	1943/3957	G/V	gGa/gTa	rs764180060	1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	deleterious_low_confidence(0.01)		38/46		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17																	MODERATE	1	SNV	1			1										PASS		rs764180060	.												T	3	4	57	113354446	113354446	G	T	1	0	0	0	0	1	0	0	0	721	1174	41	2		2	ANK2	4	113354446	Missense_Mutation	SNP	G	C3N-00560_TP	6140	113354446	76860109	325	18264											
CAMK2D	0	.	GRCh38	chr4	113455822	113455822	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttggaatacagggtggcCtattaagagaagccccattt	12	11	10	8	0	0	1	0	0	0	1	0	3	0	2	3	3	2	0	3	3	5	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1434-1G>T		p.X478_splice	ENST00000342666		128	68	60	96	96	0	strelka-varscan-mutect	CAMK2D,splice_acceptor_variant,,ENST00000511664,;CAMK2D,splice_acceptor_variant,,ENST00000342666,NM_001221.3;CAMK2D,splice_acceptor_variant,,ENST00000515496,;CAMK2D,splice_acceptor_variant,,ENST00000514328,;CAMK2D,intron_variant,,ENST00000296402,NM_172127.2;CAMK2D,intron_variant,,ENST00000394524,NM_001321576.1,NM_172128.2;CAMK2D,intron_variant,,ENST00000513132,;CAMK2D,downstream_gene_variant,,ENST00000394522,NM_172114.1;CAMK2D,downstream_gene_variant,,ENST00000505990,;CAMK2D,downstream_gene_variant,,ENST00000379773,NM_172115.2;CAMK2D,downstream_gene_variant,,ENST00000508738,NM_172129.1;CAMK2D,downstream_gene_variant,,ENST00000509594,;	A	ENST00000342666	Transcript	splice_acceptor_variant	-/1940	1434/1500	478/499				1		-1	CAMK2D	HGNC	HGNC:1462	protein_coding	YES	CCDS3703.1	ENSP00000339740	Q13557	A0A024RDK3	UPI000013FFDA	NM_001221.3				17/18																		HIGH	1	SNV	5			1										PASS		rs1248293531	.												A	5	1	57	113455822	113455822	C	A	1	0	0	0	0	0	0	1	0	2292	695	24	2		2	CAMK2D	4	113455822	Splice_Site	SNP	C	C3N-00560_TP	101376	113455822	76758733	326	18265											
ARSJ	0	.	GRCh38	chr4	113903501	113903501	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaaaaggtatcaaatccTcttctggtgggcatgcattc	12	11	8	10	0	3	0	1	0	2	0	5	0	4	0	2	3	1	3	2	3	5	3	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.573A>G	p.=	p.R191R	ENST00000315366	2/2	375	188	187	302	302	0	strelka-varscan-mutect	ARSJ,synonymous_variant,p.=,ENST00000315366,NM_024590.3;ARSJ,downstream_gene_variant,,ENST00000636527,;ARSJ,3_prime_UTR_variant,,ENST00000509829,;	C	ENST00000315366	Transcript	synonymous_variant	1440/4657	573/1800	191/599	R	agA/agG		1		-1	ARSJ	HGNC	HGNC:26286	protein_coding	YES	CCDS43264.1	ENSP00000320219	Q5FYB0		UPI000003FD84	NM_024590.3			2/2		hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF69,Pfam_domain:PF00884,Gene3D:3.40.720.10,Superfamily_domains:SSF53649																	LOW	1	SNV	1			1										PASS		rs1354445732	.												C	2	2	57	113903501	113903501	T	C	1	0	0	0	0	0	0	0	1	1138	1548	54	5		5	ARSJ	4	113903501	Silent	SNP	T	C3N-00560_TP	447679	113903501	76311054	327	18266											
TRPC3	0	.	GRCh38	chr4	121907485	121907485	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagggaggatgtacgcaatCcgagagaagctgagcacaac	14	4	14	9	2	0	2	0	1	0	1	1	6	1	4	1	2	4	5	1	2	4	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1875G>T	p.=	p.R625R	ENST00000379645	7/12	270	246	24	210	210	0	strelka-varscan-mutect	TRPC3,synonymous_variant,p.=,ENST00000264811,NM_003305.2;TRPC3,synonymous_variant,p.=,ENST00000379645,NM_001130698.1;TRPC3,synonymous_variant,p.=,ENST00000513531,;TRPC3,3_prime_UTR_variant,,ENST00000506449,;	A	ENST00000379645	Transcript	synonymous_variant	1949/3548	1875/2766	625/921	R	cgG/cgT		1		-1	TRPC3	HGNC	HGNC:12335	protein_coding	YES	CCDS47130.1	ENSP00000368966	Q13507		UPI00004C6F61	NM_001130698.1			7/12		hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	121907485	121907485	C	A	1	0	0	0	0	0	0	0	1	17084	842	30	2		2	TRPC3	4	121907485	Silent	SNP	C	C3N-00560_TP	8003984	121907485	68307070	328	18267											
KIAA1109	0	.	GRCh38	chr4	122308063	122308063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtagtagatatgctacctgGtatccagcaaacatcagccc	13	9	8	11	0	1	1	1	0	0	1	2	1	2	1	3	1	5	5	3	1	6	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.9956G>T	p.Gly3319Val	p.G3319V	ENST00000264501	58/86	509	285	224	424	423	1	strelka-varscan-mutect	KIAA1109,missense_variant,p.Gly3319Val,ENST00000264501,;KIAA1109,missense_variant,p.Gly3319Val,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Gly1277Val,ENST00000419325,;KIAA1109,upstream_gene_variant,,ENST00000438707,;KIAA1109,upstream_gene_variant,,ENST00000421930,;	T	ENST00000264501	Transcript	missense_variant	10329/15896	9956/15018	3319/5005	G/V	gGt/gTt		1		1	KIAA1109	HGNC	HGNC:26953	protein_coding	YES	CCDS43267.1	ENSP00000264501	Q2LD37		UPI0000DD87B4		tolerated(0.5)		58/86		hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	122308063	122308063	G	T	1	0	0	0	0	1	0	0	0	8101	1261	44	2		2	KIAA1109	4	122308063	Missense_Mutation	SNP	G	C3N-00560_TP	400578	122308063	67906492	329	18268											
KIAA1109	0	.	GRCh38	chr4	122343536	122343536	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtctgacttttccctttAtgtatttcatccatatggag	8	18	6	9	0	2	1	1	1	1	0	4	2	4	2	2	1	0	1	2	1	3	7	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.12479A>G	p.Tyr4160Cys	p.Y4160C	ENST00000264501	73/86	314	268	46	205	205	0	strelka-varscan-mutect	KIAA1109,missense_variant,p.Tyr4160Cys,ENST00000264501,;KIAA1109,missense_variant,p.Tyr4160Cys,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Tyr829Cys,ENST00000438707,;KIAA1109,missense_variant,p.Tyr536Cys,ENST00000306802,;KIAA1109,missense_variant,p.Tyr106Cys,ENST00000442707,;	G	ENST00000264501	Transcript	missense_variant	12852/15896	12479/15018	4160/5005	Y/C	tAt/tGt		1		1	KIAA1109	HGNC	HGNC:26953	protein_coding	YES	CCDS43267.1	ENSP00000264501	Q2LD37		UPI0000DD87B4		deleterious(0)		73/86		hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	57	122343536	122343536	A	G	1	0	0	0	0	1	0	0	0	8101	449	16	5		5	KIAA1109	4	122343536	Missense_Mutation	SNP	A	C3N-00560_TP	35473	122343536	67871019	330	18269											
BBS12	0	.	GRCh38	chr4	122742507	122742507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatttaaacctcagacaaaGgttgaagcagataacaacac	18	9	6	8	0	1	3	1	1	0	2	1	3	1	3	1	1	4	2	1	1	7	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.615G>T	p.Lys205Asn	p.K205N	ENST00000542236	3/3	175	85	90	108	108	0	strelka-varscan-mutect	BBS12,missense_variant,p.Lys205Asn,ENST00000542236,NM_001178007.1;BBS12,missense_variant,p.Lys205Asn,ENST00000314218,NM_152618.2;BBS12,downstream_gene_variant,,ENST00000433287,;	T	ENST00000542236	Transcript	missense_variant	996/3431	615/2133	205/710	K/N	aaG/aaT		1		1	BBS12	HGNC	HGNC:26648	protein_coding	YES	CCDS3728.1	ENSP00000438273	Q6ZW61		UPI0000231CAC	NM_001178007.1	tolerated(0.16)		3/3																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	122742507	122742507	G	T	1	0	0	0	0	1	0	0	0	1484	991	35	2		2	BBS12	4	122742507	Missense_Mutation	SNP	G	C3N-00560_TP	398971	122742507	67472048	331	18270											
FAT4	0	.	GRCh38	chr4	125408521	125408521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatatattgtgaatgaaGatgatgaagatggcatcttt	14	15	9	3	0	1	6	0	4	1	2	1	6	1	6	0	1	1	1	0	1	6	5	rs778560998		C3N-00560_TP	C3N-00560_NB	G	G																c.5647G>T	p.Asp1883Tyr	p.D1883Y	ENST00000394329	4/17	116	100	16	112	112	0	strelka-varscan-mutect	FAT4,missense_variant,p.Asp1883Tyr,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,missense_variant,p.Asp181Tyr,ENST00000335110,;	T	ENST00000394329	Transcript	missense_variant	5660/16123	5647/14946	1883/4981	D/Y	Gat/Tat	rs778560998,COSM1206634,COSM1206635	1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	deleterious(0)		4/17		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs778560998	.												T	3	4	57	125408521	125408521	G	T	1	0	0	0	0	1	0	0	0	5552	942	33	2		2	FAT4	4	125408521	Missense_Mutation	SNP	G	C3N-00560_TP	2666014	125408521	64806034	332	18271											
FAT4	0	.	GRCh38	chr4	125452713	125452713	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtagggcgtgtgagagAgatatcaatgagtgcctgca	11	9	15	6	1	1	3	1	2	0	2	1	5	1	3	1	2	2	2	1	2	3	2			C3N-00560_TP	C3N-00560_NB	A	A																c.11697A>G	p.=	p.R3899R	ENST00000394329	9/17	201	107	94	162	162	0	strelka-varscan-mutect	FAT4,synonymous_variant,p.=,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,synonymous_variant,p.=,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;	G	ENST00000394329	Transcript	synonymous_variant	11710/16123	11697/14946	3899/4981	R	agA/agG	COSM1736676,COSM1736677	1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4			9/17		Gene3D:2gy5A03,Superfamily_domains:SSF57184											1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												G	2	3	57	125452713	125452713	A	G	1	0	0	0	0	0	0	0	1	5552	301	11	5		5	FAT4	4	125452713	Silent	SNP	A	C3N-00560_TP	44192	125452713	64761842	333	18272											
PLK4	0	.	GRCh38	chr4	127891578	127891578	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaaaaaaatcttttggcaGatcactatttattatccaaa	16	16	3	6	0	2	1	1	0	1	1	3	1	3	1	1	1	0	1	1	1	8	8	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1936-1G>C		p.X646_splice	ENST00000270861		83	64	19	83	83	0	strelka-varscan-mutect	PLK4,splice_acceptor_variant,,ENST00000270861,NM_014264.4;PLK4,splice_acceptor_variant,,ENST00000515069,;PLK4,splice_acceptor_variant,,ENST00000507249,;PLK4,splice_acceptor_variant,,ENST00000513090,NM_001190799.1;PLK4,splice_acceptor_variant,,ENST00000514379,NM_001190801.1;PLK4,intron_variant,,ENST00000508113,;RNU6-583P,upstream_gene_variant,,ENST00000516012,;PLK4,splice_acceptor_variant,,ENST00000507454,;PLK4,upstream_gene_variant,,ENST00000510192,;PLK4,downstream_gene_variant,,ENST00000510605,;	C	ENST00000270861	Transcript	splice_acceptor_variant	-/3841	1936/2913	646/970				1		1	PLK4	HGNC	HGNC:11397	protein_coding	YES	CCDS3735.1	ENSP00000270861	O00444		UPI000007426E	NM_014264.4				8/15																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	57	127891578	127891578	G	C	1	0	0	0	0	0	0	1	0	12193	956	33	4		4	PLK4	4	127891578	Splice_Site	SNP	G	C3N-00560_TP	2438865	127891578	62322977	334	18273											
PCDH10	0	.	GRCh38	chr4	133151535	133151535	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgcgccgcgtttcagccaGccggtctacgacgtgtatgt	7	9	12	13	7	2	0	1	0	1	0	2	1	2	0	3	1	4	2	3	1	3	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1395G>C	p.Gln465His	p.Q465H	ENST00000264360	1/5	323	175	148	330	330	0	strelka-varscan-mutect	PCDH10,missense_variant,p.Gln465His,ENST00000264360,NM_032961.2;PCDH10,missense_variant,p.Gln465His,ENST00000618019,NM_020815.2;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;PCDH10,upstream_gene_variant,,ENST00000511112,;	C	ENST00000264360	Transcript	missense_variant	2221/8489	1395/3123	465/1040	Q/H	caG/caC		1		1	PCDH10	HGNC	HGNC:13404	protein_coding	YES	CCDS34063.1	ENSP00000264360	Q9P2E7	X5D999	UPI0000161C61	NM_032961.2	deleterious(0.02)		1/5		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF0,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs1157153017	.												C	3	2	57	133151535	133151535	G	C	1	0	0	0	0	1	0	0	0	11594	962	34	4		4	PCDH10	4	133151535	Missense_Mutation	SNP	G	C3N-00560_TP	5259957	133151535	57063020	335	18274											
INPP4B	0	.	GRCh38	chr4	142122148	142122148	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttcctgttataactggCaacacatcattggatttggc	9	14	8	10	1	2	0	1	0	1	0	3	1	3	1	1	3	2	2	1	3	3	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2115G>C	p.Leu705Phe	p.L705F	ENST00000513000	22/27	210	83	127	148	148	0	strelka-varscan-mutect	INPP4B,missense_variant,p.Leu705Phe,ENST00000513000,NM_003866.2;INPP4B,missense_variant,p.Leu705Phe,ENST00000509777,;INPP4B,missense_variant,p.Leu705Phe,ENST00000262992,NM_001101669.1;INPP4B,missense_variant,p.Leu705Phe,ENST00000508116,;INPP4B,missense_variant,p.Leu705Phe,ENST00000510812,;INPP4B,missense_variant,p.Leu520Phe,ENST00000511838,;INPP4B,missense_variant,p.Leu576Phe,ENST00000514525,;INPP4B,3_prime_UTR_variant,,ENST00000512630,;	G	ENST00000513000	Transcript	missense_variant	2549/8831	2115/2775	705/924	L/F	ttG/ttC		1		-1	INPP4B	HGNC	HGNC:6075	protein_coding	YES	CCDS3757.1	ENSP00000425487	O15327		UPI000013D37A	NM_003866.2	deleterious(0.04)		22/27		hmmpanther:PTHR12187,hmmpanther:PTHR12187:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	142122148	142122148	C	G	1	0	0	0	0	1	0	0	0	7656	709	25	4		4	INPP4B	4	142122148	Missense_Mutation	SNP	C	C3N-00560_TP	8970613	142122148	48092407	336	18275											
ARHGAP10	0	.	GRCh38	chr4	147909741	147909741	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttttattagctgtcccatAgttttaatacagccatcatc	10	17	4	10	0	2	0	1	0	1	0	4	0	3	0	2	0	3	2	2	0	5	7	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1126A>G	p.Ser376Gly	p.S376G	ENST00000336498	12/23	155	77	78	170	170	0	strelka-varscan-mutect	ARHGAP10,missense_variant,p.Ser376Gly,ENST00000336498,NM_024605.3;ARHGAP10,missense_variant,p.Ser54Gly,ENST00000507661,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506054,;	G	ENST00000336498	Transcript	missense_variant	1365/3299	1126/2361	376/786	S/G	Agt/Ggt		1		1	ARHGAP10	HGNC	HGNC:26099	protein_coding	YES	CCDS34075.1	ENSP00000336923	A1A4S6		UPI000013EA63	NM_024605.3	tolerated(0.28)		12/23		hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	147909741	147909741	A	G	1	0	0	0	0	1	0	0	0	986	420	15	5		5	ARHGAP10	4	147909741	Missense_Mutation	SNP	A	C3N-00560_TP	5787593	147909741	42304814	337	18276											
RPS3A	0	.	GRCh38	chr4	151102886	151102886	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagacaatgattgaagctCacgttgatgtcaagactacc	13	10	8	10	1	2	5	2	3	0	2	3	5	3	5	2	0	2	2	2	0	4	3			C3N-00560_TP	C3N-00560_NB	C	C																c.370C>G	p.His124Asp	p.H124D	ENST00000274065	4/6	165	156	9	201	201	0	varscan-mutect	RPS3A,missense_variant,p.His87Asp,ENST00000514682,;RPS3A,missense_variant,p.His124Asp,ENST00000274065,NM_001006.4;RPS3A,missense_variant,p.His87Asp,ENST00000506126,;RPS3A,missense_variant,p.His124Asp,ENST00000512690,;RPS3A,missense_variant,p.His104Asp,ENST00000510993,;RPS3A,missense_variant,p.His119Asp,ENST00000512797,;RPS3A,missense_variant,p.His87Asp,ENST00000507327,;RPS3A,missense_variant,p.His68Asp,ENST00000515792,;RPS3A,missense_variant,p.His87Asp,ENST00000505243,;RPS3A,missense_variant,p.His87Asp,ENST00000508783,;RPS3A,missense_variant,p.His5Asp,ENST00000509736,;RPS3A,downstream_gene_variant,,ENST00000503002,;SNORD73B,downstream_gene_variant,,ENST00000364394,;SNORD73A,upstream_gene_variant,,ENST00000386062,;SH3D19,non_coding_transcript_exon_variant,,ENST00000604922,;RPS3A,3_prime_UTR_variant,,ENST00000515818,;RPS3A,non_coding_transcript_exon_variant,,ENST00000507485,;	G	ENST00000274065	Transcript	missense_variant	450/934	370/795	124/264	H/D	Cac/Gac	COSM1319371	1		1	RPS3A	HGNC	HGNC:10421	protein_coding	YES	CCDS3775.1	ENSP00000346050	P61247		UPI000013D9EC	NM_001006.4	deleterious(0.01)		4/6		HAMAP:MF_03122,Pfam_domain:PF01015,hmmpanther:PTHR11830,SMART_domains:SM01397											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	57	151102886	151102886	C	G	1	0	0	0	0	1	0	0	0	13899	826	29	4		4	RPS3A	4	151102886	Missense_Mutation	SNP	C	C3N-00560_TP	3193145	151102886	39111669	338	18277											
ARFIP1	0	.	GRCh38	chr4	152870752	152870752	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaatgtctaccttttcaGgttccccagcaccgccactg	9	12	6	14	1	2	0	1	0	1	0	3	0	3	0	5	1	2	2	5	1	3	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.203-1G>T		p.X68_splice	ENST00000451320		104	83	21	106	106	0	strelka-varscan-mutect	ARFIP1,splice_acceptor_variant,,ENST00000451320,NM_001287431.1;ARFIP1,splice_acceptor_variant,,ENST00000353617,NM_001287432.1,NM_001025595.2;ARFIP1,intron_variant,,ENST00000405727,NM_014447.3,NM_001287433.1;ARFIP1,intron_variant,,ENST00000429148,;ARFIP1,intron_variant,,ENST00000356064,NM_001025593.2;ARFIP1,splice_acceptor_variant,,ENST00000511289,;ARFIP1,splice_acceptor_variant,,ENST00000513361,;	T	ENST00000451320	Transcript	splice_acceptor_variant	-/3424	203/1122	68/373				1		1	ARFIP1	HGNC	HGNC:21496	protein_coding	YES	CCDS34080.1	ENSP00000395083	P53367	B4E273	UPI0000125668	NM_001287431.1				3/8																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	57	152870752	152870752	G	T	1	0	0	0	0	0	0	1	0	978	1014	35	2		2	ARFIP1	4	152870752	Splice_Site	SNP	G	C3N-00560_TP	1767866	152870752	37343803	339	18278											
NPY2R	0	.	GRCh38	chr4	155214911	155214911	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttgccaatccccttctCtatggctggatgaacagcaa	10	12	7	12	0	1	1	0	1	1	0	3	2	2	2	3	2	3	2	3	2	4	4			C3N-00560_TP	C3N-00560_NB	C	C																c.972C>A	p.=	p.L324L	ENST00000329476	2/2	104	73	31	127	127	0	strelka-varscan-mutect	NPY2R,synonymous_variant,p.=,ENST00000329476,NM_000910.3;NPY2R,synonymous_variant,p.=,ENST00000506608,;AC097467.2,intron_variant,,ENST00000630664,;	A	ENST00000329476	Transcript	synonymous_variant	1461/3626	972/1146	324/381	L	ctC/ctA	COSM1539615	1		1	NPY2R	HGNC	HGNC:7957	protein_coding	YES	CCDS3791.1	ENSP00000332591	P49146		UPI000003B342	NM_000910.3			2/2		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF42,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR01012											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	57	155214911	155214911	C	A	1	0	0	0	0	0	0	0	1	10664	900	32	2		2	NPY2R	4	155214911	Silent	SNP	C	C3N-00560_TP	2344159	155214911	34999644	340	18279											
GUCY1B3	0	.	GRCh38	chr4	155759802	155759802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcagtacggatttgtgaatCacgccctggagttgctggtg	7	11	14	9	3	1	1	1	1	0	0	1	3	1	3	1	3	2	4	1	3	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.19C>T	p.His7Tyr	p.H7Y	ENST00000502959	2/15	81	75	6	121	121	0	strelka-varscan-mutect	GUCY1B3,missense_variant,p.His7Tyr,ENST00000264424,NM_000857.3;GUCY1B3,missense_variant,p.His7Tyr,ENST00000502959,NM_001291951.1;GUCY1B3,missense_variant,p.His7Tyr,ENST00000503520,NM_001291954.1;GUCY1B3,5_prime_UTR_variant,,ENST00000507146,NM_001291953.1;GUCY1B3,5_prime_UTR_variant,,ENST00000505764,NM_001291952.1;GUCY1B3,5_prime_UTR_variant,,ENST00000513437,;GUCY1B3,intron_variant,,ENST00000505154,NM_001291955.1;	T	ENST00000502959	Transcript	missense_variant	139/2255	19/1926	7/641	H/Y	Cac/Tac		1		1	GUCY1B3	HGNC	HGNC:4687	protein_coding	YES	CCDS77975.1	ENSP00000426786		E9PCN2	UPI0001D3B9A4	NM_001291951.1	tolerated(1)		2/15		hmmpanther:PTHR11920:SF318,hmmpanther:PTHR11920,Pfam_domain:PF07700,Gene3D:3sj5A00,Superfamily_domains:SSF111126																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	155759802	155759802	C	T	1	0	0	0	0	1	0	0	0	6777	826	29	3		3	GUCY1B3	4	155759802	Missense_Mutation	SNP	C	C3N-00560_TP	544891	155759802	34454753	341	18280											
FAM218A	0	.	GRCh38	chr4	164957043	164957043	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggaaggatgcgcggtgcgGcggggcagctgtcctcttct	5	9	17	10	4	2	0	0	0	2	0	3	2	3	2	1	6	3	2	1	6	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.21G>T	p.=	p.R7R	ENST00000513876	1/1	33	24	9	31	31	0	strelka-varscan-mutect	FAM218A,synonymous_variant,p.=,ENST00000513876,NM_153027.1;TRIM61,intron_variant,,ENST00000329314,NM_001012414.2;	T	ENST00000513876	Transcript	synonymous_variant	96/2175	21/474	7/157	R	cgG/cgT		1		1	FAM218A	HGNC	HGNC:26466	protein_coding	YES	CCDS3807.1	ENSP00000427428	Q96MZ4		UPI000006D0F5	NM_153027.1			1/1																			LOW		SNV				1										PASS		.	.												T	2	4	57	164957043	164957043	G	T	1	0	0	0	0	0	0	0	1	5408	1190	42	2		2	FAM218A	4	164957043	Silent	SNP	G	C3N-00560_TP	9197241	164957043	25257512	342	18281											
DDX60L	0	.	GRCh38	chr4	168391576	168391576	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatccagatagactgagtcTtgggcaaaaacaacagattt	15	9	9	8	0	1	4	0	1	1	3	2	4	2	4	1	1	2	2	1	1	4	3	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.3879A>G	p.=	p.Q1293Q	ENST00000260184	29/38	149	121	28	172	172	0	strelka-varscan-mutect	DDX60L,synonymous_variant,p.=,ENST00000511577,;DDX60L,synonymous_variant,p.=,ENST00000260184,NM_001012967.2;DDX60L,synonymous_variant,p.=,ENST00000505890,NM_001291510.1;DDX60L,synonymous_variant,p.=,ENST00000514580,;DDX60L,downstream_gene_variant,,ENST00000505863,;DDX60L,downstream_gene_variant,,ENST00000503190,;	C	ENST00000260184	Transcript	synonymous_variant	4100/6754	3879/5121	1293/1706	Q	caA/caG		1		-1	DDX60L	HGNC	HGNC:26429	protein_coding	YES	CCDS47161.1	ENSP00000260184	Q5H9U9		UPI0003EAE873	NM_001012967.2			29/38		PROSITE_profiles:PS51194,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	57	168391576	168391576	T	C	1	0	0	0	0	0	0	0	1	4182	1606	56	5		5	DDX60L	4	168391576	Silent	SNP	T	C3N-00560_TP	3434533	168391576	21822979	343	18282											
DDX60L	0	.	GRCh38	chr4	168394543	168394543	+	Frame_Shift_Del	DEL	C	C	-																															ctgctgtgatgatatccaatCcccctttgtgctaaagcctt																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3732delG	p.Ile1245LeufsTer21	p.I1245Lfs*21	ENST00000260184	28/38	105	85	20	182	182	0	sindel-varindel-pindel	DDX60L,frameshift_variant,p.Ile1245LeufsTer21,ENST00000511577,;DDX60L,frameshift_variant,p.Ile1245LeufsTer21,ENST00000260184,NM_001012967.2;DDX60L,frameshift_variant,p.Ile1246LeufsTer21,ENST00000505890,NM_001291510.1;DDX60L,frameshift_variant,p.Ile133LeufsTer21,ENST00000514580,;DDX60L,downstream_gene_variant,,ENST00000505863,;DDX60L,downstream_gene_variant,,ENST00000503190,;	-	ENST00000260184	Transcript	frameshift_variant	3953/6754	3732/5121	1244/1706	G/X	ggG/gg		1		-1	DDX60L	HGNC	HGNC:26429	protein_coding	YES	CCDS47161.1	ENSP00000260184	Q5H9U9		UPI0003EAE873	NM_001012967.2			28/38		PROSITE_profiles:PS51194,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	57	168394543	168394543	C	-	1	0	1	0	1	0	0	0	0	4182	842	30	0		0	DDX60L	4	168394543	Frame_Shift_Del	DEL	C	C3N-00560_TP	2967	168394543	21820012	344	18283											
GALNT7	0	.	GRCh38	chr4	173298216	173298216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtatgcccgaggagcatGggattggagtatgctctgga	8	10	17	6	1	1	0	0	0	1	0	1	5	1	4	1	5	3	4	1	5	2	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1067G>T	p.Trp356Leu	p.W356L	ENST00000265000	6/12	97	69	28	113	112	1	strelka-varscan-mutect	GALNT7,missense_variant,p.Trp356Leu,ENST00000265000,NM_017423.2;GALNT7,3_prime_UTR_variant,,ENST00000512285,;GALNT7,intron_variant,,ENST00000505308,;GALNT7,downstream_gene_variant,,ENST00000502407,;GALNT7,non_coding_transcript_exon_variant,,ENST00000506317,;	T	ENST00000265000	Transcript	missense_variant	1150/4307	1067/1974	356/657	W/L	tGg/tTg		1		1	GALNT7	HGNC	HGNC:4129	protein_coding	YES	CCDS3815.1	ENSP00000265000	Q86SF2		UPI000000DB3C	NM_017423.2	deleterious(0.01)		6/12		Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF60,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	173298216	173298216	G	T	1	0	0	0	0	1	0	0	0	6089	1357	47	2		2	GALNT7	4	173298216	Missense_Mutation	SNP	G	C3N-00560_TP	4903673	173298216	16916339	345	18284											
TENM3	0	.	GRCh38	chr4	182736857	182736857	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagatttgaaactctcctActtgagttccagagctgcag	12	11	8	10	0	1	4	0	2	1	2	3	4	2	4	2	0	5	3	2	0	3	4	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.3017A>T	p.Tyr1006Phe	p.Y1006F	ENST00000511685	17/28	189	155	34	236	236	0	strelka-varscan-mutect	TENM3,missense_variant,p.Tyr1006Phe,ENST00000511685,NM_001080477.2;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;	T	ENST00000511685	Transcript	missense_variant	3140/10896	3017/8100	1006/2699	Y/F	tAc/tTc		1		1	TENM3	HGNC	HGNC:29944	protein_coding	YES	CCDS47165.1	ENSP00000424226	Q9P273	A0A140VJW8	UPI00006C0820	NM_001080477.2	deleterious(0.02)		17/28		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	182736857	182736857	A	T	1	0	0	0	0	1	0	0	0	16173	391	14	4		4	TENM3	4	182736857	Missense_Mutation	SNP	A	C3N-00560_TP	9438641	182736857	7477698	346	18285											
CENPU	0	.	GRCh38	chr4	184728971	184728971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcacccagcctgccaatgCttgagacatcagaattatca	12	11	6	12	0	3	2	3	1	0	2	3	3	3	2	3	0	3	1	3	0	3	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.161G>T	p.Ser54Ile	p.S54I	ENST00000281453	3/13	120	99	21	150	150	0	strelka-varscan-mutect	CENPU,missense_variant,p.Ser54Ile,ENST00000281453,NM_024629.3;CENPU,missense_variant,p.Ser25Ile,ENST00000514781,;CENPU,missense_variant,p.Ser54Ile,ENST00000510146,;	A	ENST00000281453	Transcript	missense_variant	232/1998	161/1257	54/418	S/I	aGc/aTc		1		-1	CENPU	HGNC	HGNC:21348	protein_coding	YES	CCDS3838.1	ENSP00000281453	Q71F23		UPI00001BFAF6	NM_024629.3	deleterious(0.04)		3/13		hmmpanther:PTHR32222:SF1,hmmpanther:PTHR32222																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	184728971	184728971	C	A	1	0	0	0	0	1	0	0	0	2951	797	28	2		2	CENPU	4	184728971	Missense_Mutation	SNP	C	C3N-00560_TP	1992114	184728971	5485584	347	18286											
TRIML2	0	.	GRCh38	chr4	188099082	188099082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactttttctcaagctccaCgatgagctttaggaggctgc	9	12	9	11	1	1	1	1	1	1	0	3	3	2	2	1	2	3	3	1	2	2	4	rs141642320		C3N-00560_TP	C3N-00560_NB	C	C																c.574G>T	p.Val192Leu	p.V192L	ENST00000512729	4/7	175	140	35	207	207	0	strelka-varscan-mutect	TRIML2,missense_variant,p.Val192Leu,ENST00000512729,NM_173553.2;TRIML2,missense_variant,p.Val152Leu,ENST00000326754,NM_001303419.1;TRIML2,missense_variant,p.Val97Leu,ENST00000503141,;TRIML2,missense_variant,p.Val97Leu,ENST00000503475,;TRIML2,non_coding_transcript_exon_variant,,ENST00000511771,;	A	ENST00000512729	Transcript	missense_variant	799/1639	574/1314	192/437	V/L	Gtg/Ttg	rs141642320	1		-1	TRIML2	HGNC	HGNC:26378	protein_coding	YES		ENSP00000422581	Q8N7C3		UPI000020B818	NM_173553.2	tolerated(0.33)		4/7		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103:SF347,hmmpanther:PTHR24103																	MODERATE	1	SNV	1			1										PASS		rs141642320	.												A	3	1	57	188099082	188099082	C	A	1	0	0	0	0	1	0	0	0	17048	536	19	1		1	TRIML2	4	188099082	Missense_Mutation	SNP	C	C3N-00560_TP	3370111	188099082	2115473	348	18287											
AHRR	0	.	GRCh38	chr5	434302	434302	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccgatgcctccgggggAcctgtgtggtccgacgctgc	4	9	15	13	4	0	0	0	0	0	0	2	3	2	1	5	3	3	2	5	3	1	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1628A>T	p.Asp543Val	p.D543V	ENST00000316418	12/12	160	134	26	81	81	0	strelka-varscan-mutect	AHRR,missense_variant,p.Asp543Val,ENST00000316418,NM_020731.4;AHRR,missense_variant,p.Asp381Val,ENST00000506456,;AHRR,missense_variant,p.Asp525Val,ENST00000505113,NM_001242412.1;AHRR,missense_variant,p.Asp371Val,ENST00000512529,;AHRR,missense_variant,p.Asp180Val,ENST00000511487,;AHRR,non_coding_transcript_exon_variant,,ENST00000507048,;	T	ENST00000316418	Transcript	missense_variant	1672/5661	1628/2160	543/719	D/V	gAc/gTc		1		1	AHRR	HGNC	HGNC:346	protein_coding	YES	CCDS43297.1	ENSP00000323816	A9YTQ3		UPI00004572BE	NM_020731.4	tolerated(0.15)		12/12		hmmpanther:PTHR10649:SF3,hmmpanther:PTHR10649																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	434302	434302	A	T	1	0	0	0	0	1	0	0	0	494	275	10	4		4	AHRR	5	434302	Missense_Mutation	SNP	A	C3N-00560_TP		434302	181103957	349	18288											
SLC9A3	0	.	GRCh38	chr5	482105	482105	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgagccgaggttcccggTgctcgctcctcttcaccttc	3	12	10	16	4	2	1	1	1	1	0	6	2	4	1	4	2	2	4	4	2	0	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1409A>C	p.His470Pro	p.H470P	ENST00000264938	8/17	710	505	205	318	318	0	strelka-varscan-mutect	SLC9A3,missense_variant,p.His470Pro,ENST00000264938,NM_004174.2;SLC9A3,missense_variant,p.His461Pro,ENST00000514375,NM_001284351.1;CTD-2228K2.7,downstream_gene_variant,,ENST00000607286,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606288,;CTD-2228K2.7,downstream_gene_variant,,ENST00000607005,;SLC9A3,non_coding_transcript_exon_variant,,ENST00000507407,;CTD-2228K2.7,downstream_gene_variant,,ENST00000534918,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606074,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606107,;	G	ENST00000264938	Transcript	missense_variant	1419/2584	1409/2505	470/834	H/P	cAc/cCc		1		-1	SLC9A3	HGNC	HGNC:11073	protein_coding	YES	CCDS3855.1	ENSP00000264938	P48764		UPI000013D597	NM_004174.2	tolerated(0.28)		8/17		hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF90,TIGRFAM_domain:TIGR00840,Prints_domain:PR01087																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	482105	482105	T	G	1	0	0	0	0	1	0	0	0	14995	1696	59	5		5	SLC9A3	5	482105	Missense_Mutation	SNP	T	C3N-00560_TP	47803	482105	181056154	350	18289											
NKD2	0	.	GRCh38	chr5	1038090	1038090	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttcagctactacctgcCggccgtcctgccgccccagg	5	7	10	19	3	1	0	1	0	0	0	2	0	2	0	8	2	6	1	8	2	2	3	rs182715653		C3N-00560_TP	C3N-00560_NB	C	C																c.1073C>A	p.Pro358Gln	p.P358Q	ENST00000296849	10/10	315	259	56	110	110	0	strelka-varscan-mutect	NKD2,missense_variant,p.Pro358Gln,ENST00000296849,NM_033120.3;NKD2,3_prime_UTR_variant,,ENST00000274150,NM_001271082.1;NKD2,non_coding_transcript_exon_variant,,ENST00000513296,;NKD2,non_coding_transcript_exon_variant,,ENST00000523688,;NKD2,downstream_gene_variant,,ENST00000519933,;	A	ENST00000296849	Transcript	missense_variant	1302/2155	1073/1356	358/451	P/Q	cCg/cAg	rs182715653	1		1	NKD2	HGNC	HGNC:17046	protein_coding	YES	CCDS3859.1	ENSP00000296849	Q969F2		UPI0000073E19	NM_033120.3	tolerated(0.1)		10/10		hmmpanther:PTHR22611:SF1,hmmpanther:PTHR22611																	MODERATE	1	SNV	1			1										PASS		rs182715653	.												A	3	1	57	1038090	1038090	C	A	1	0	0	0	0	1	0	0	0	10477	652	23	1		1	NKD2	5	1038090	Missense_Mutation	SNP	C	C3N-00560_TP	555985	1038090	180500169	351	18290											
ADAMTS16	0	.	GRCh38	chr5	5146279	5146279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctccaggcacgacttcCacatggatctgaggacttcc	10	8	10	13	1	1	1	0	1	1	0	4	4	4	3	3	4	0	2	3	4	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.325C>A	p.His109Asn	p.H109N	ENST00000274181	3/23	681	546	135	415	415	0	strelka-varscan-mutect	ADAMTS16,missense_variant,p.His109Asn,ENST00000274181,NM_139056.2;ADAMTS16,missense_variant,p.His109Asn,ENST00000511368,;CTD-2297D10.1,intron_variant,,ENST00000514848,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	A	ENST00000274181	Transcript	missense_variant	463/4979	325/3675	109/1224	H/N	Cac/Aac		1		1	ADAMTS16	HGNC	HGNC:17108	protein_coding	YES	CCDS43299.1	ENSP00000274181	Q8TE57		UPI00004572CA	NM_139056.2	deleterious(0)		3/23		Pfam_domain:PF01562																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	5146279	5146279	C	A	1	0	0	0	0	1	0	0	0	305	594	21	2		2	ADAMTS16	5	5146279	Missense_Mutation	SNP	C	C3N-00560_TP	4108189	5146279	176391980	352	18291											
ADAMTS16	0	.	GRCh38	chr5	5146380	5146380	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagactttaccgccagaGgacttctgtttctatcaagg	9	12	10	10	1	3	2	1	0	2	2	3	3	3	3	2	2	2	2	2	2	3	5	rs753444967		C3N-00560_TP	C3N-00560_NB	G	G																c.426G>A	p.=	p.E142E	ENST00000274181	3/23	355	283	72	228	228	0	strelka-varscan-mutect	ADAMTS16,synonymous_variant,p.=,ENST00000274181,NM_139056.2;ADAMTS16,synonymous_variant,p.=,ENST00000511368,;CTD-2297D10.1,intron_variant,,ENST00000514848,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	A	ENST00000274181	Transcript	synonymous_variant	564/4979	426/3675	142/1224	E	gaG/gaA	rs753444967	1		1	ADAMTS16	HGNC	HGNC:17108	protein_coding	YES	CCDS43299.1	ENSP00000274181	Q8TE57		UPI00004572CA	NM_139056.2			3/23		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140,Pfam_domain:PF01562																	LOW	1	SNV	2			1										PASS		rs753444967	.												A	2	1	57	5146380	5146380	G	A	1	0	0	0	0	0	0	0	1	305	991	35	3		3	ADAMTS16	5	5146380	Silent	SNP	G	C3N-00560_TP	101	5146380	176391879	353	18292											
ADAMTS16	0	.	GRCh38	chr5	5182144	5182144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcccaaggcagctcgccatCccacgtactgtacaagagat	11	7	9	14	2	0	1	0	0	0	1	2	2	1	1	3	1	4	4	3	1	4	2			C3N-00560_TP	C3N-00560_NB	C	C																c.602C>T	p.Ser201Phe	p.S201F	ENST00000274181	4/23	350	284	66	227	227	0	strelka-varscan-mutect	ADAMTS16,missense_variant,p.Ser201Phe,ENST00000274181,NM_139056.2;ADAMTS16,missense_variant,p.Ser201Phe,ENST00000511368,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	T	ENST00000274181	Transcript	missense_variant	740/4979	602/3675	201/1224	S/F	tCc/tTc	COSM2151002,COSM2151003,COSM333009,COSM333010	1		1	ADAMTS16	HGNC	HGNC:17108	protein_coding	YES	CCDS43299.1	ENSP00000274181	Q8TE57		UPI00004572CA	NM_139056.2	deleterious(0)		4/23		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140,Pfam_domain:PF01562											1,1,1,1						MODERATE	1	SNV	2		1,1,1,1	1										PASS		.	.												T	3	4	57	5182144	5182144	C	T	1	0	0	0	0	1	0	0	0	305	855	30	3		3	ADAMTS16	5	5182144	Missense_Mutation	SNP	C	C3N-00560_TP	35764	5182144	176356115	354	18293											
ADAMTS16	0	.	GRCh38	chr5	5200244	5200244	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctggtcaccctgcagcCgccagtatctacacaaattt	9	11	6	15	1	3	0	1	0	2	0	4	0	3	0	4	1	3	2	4	1	3	3	rs755888082		C3N-00560_TP	C3N-00560_NB	C	C																c.1426C>A	p.Arg476Ser	p.R476S	ENST00000274181	9/23	307	244	63	176	176	0	strelka-varscan-mutect	ADAMTS16,missense_variant,p.Arg476Ser,ENST00000274181,NM_139056.2;ADAMTS16,missense_variant,p.Arg476Ser,ENST00000511368,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	A	ENST00000274181	Transcript	missense_variant	1564/4979	1426/3675	476/1224	R/S	Cgc/Agc	rs755888082	1		1	ADAMTS16	HGNC	HGNC:17108	protein_coding	YES	CCDS43299.1	ENSP00000274181	Q8TE57		UPI00004572CA	NM_139056.2	deleterious(0)		9/23		PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486																	MODERATE	1	SNV	2			1										PASS		rs755888082	.												A	3	1	57	5200244	5200244	C	A	1	0	0	0	0	1	0	0	0	305	652	23	1		1	ADAMTS16	5	5200244	Missense_Mutation	SNP	C	C3N-00560_TP	18100	5200244	176338015	355	18294											
ICE1	0	.	GRCh38	chr5	5441191	5441192	+	Frame_Shift_Ins	INS	-	-	T																															gaaatgtcaggaagaactggINSgatctttaaaagcagagcta																								novel		C3N-00560_TP	C3N-00560_NB	-	-																c.277_278insT	p.Gly93ValfsTer35	p.G93Vfs*35	ENST00000296564	5/19	98	80	18	132	132	0	sindel-varindel	ICE1,frameshift_variant,p.Gly93ValfsTer35,ENST00000296564,NM_015325.2;ICE1,frameshift_variant,p.Gly16ValfsTer35,ENST00000512608,;ICE1,downstream_gene_variant,,ENST00000505464,;	T	ENST00000296564	Transcript	frameshift_variant	499-500/7927	277-278/6801	93/2266	G/VX	gga/gTga		1		1	ICE1	HGNC	HGNC:29154	protein_coding	YES	CCDS47187.1	ENSP00000296564	Q9Y2F5		UPI00015542F9	NM_015325.2			5/19		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11852:SF4,hmmpanther:PTHR11852																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	57	5441191	5441191	-	T	1	0	1	1	0	0	0	0	0	7384	1233	43	0		0	ICE1	5	5441191	Frame_Shift_Ins	INS	-	C3N-00560_TP	240947	5441191	176097068	356	18295	390	2									
ICE1	0	.	GRCh38	chr5	5441192	5441192	+	Missense_Mutation	SNP	G	G	T																															gaaatgtcaggaagaactggGatctttaaaagcagagctag																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.278G>T	p.Gly93Val	p.G93V	ENST00000296564	5/19	114	95	19	136	136	0	strelka-mutect	ICE1,missense_variant,p.Gly93Val,ENST00000296564,NM_015325.2;ICE1,missense_variant,p.Gly16Val,ENST00000512608,;ICE1,downstream_gene_variant,,ENST00000505464,;	T	ENST00000296564	Transcript	missense_variant	500/7927	278/6801	93/2266	G/V	gGa/gTa		1		1	ICE1	HGNC	HGNC:29154	protein_coding	YES	CCDS47187.1	ENSP00000296564	Q9Y2F5		UPI00015542F9	NM_015325.2	deleterious(0)		5/19		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11852:SF4,hmmpanther:PTHR11852																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	5441192	5441192	G	T	1	0	0	0	0	1	0	0	0	7384	1174	41	2		2	ICE1	5	5441192	Missense_Mutation	SNP	G	C3N-00560_TP	1	5441192	176097067	357	18296	390	2									
ADCY2	0	.	GRCh38	chr5	7414698	7414698	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcctcttctcgttggtGatatggatatgccttgttgc	4	16	11	10	2	2	1	0	1	2	0	3	2	2	2	2	2	3	2	2	2	2	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.336G>T	p.=	p.V112V	ENST00000338316	2/25	277	219	58	208	208	0	strelka-varscan-mutect	ADCY2,synonymous_variant,p.=,ENST00000338316,NM_020546.2;ADCY2,non_coding_transcript_exon_variant,,ENST00000498598,;ADCY2,non_coding_transcript_exon_variant,,ENST00000484965,;	T	ENST00000338316	Transcript	synonymous_variant	425/6575	336/3276	112/1091	V	gtG/gtT		1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2			2/25		Pfam_domain:PF16214,PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs1160232625	.												T	2	4	57	7414698	7414698	G	T	1	0	0	0	0	0	0	0	1	338	1277	45	2		2	ADCY2	5	7414698	Silent	SNP	G	C3N-00560_TP	1973506	7414698	174123561	358	18297											
ADCY2	0	.	GRCh38	chr5	7707748	7707748	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctggagcacttgaatggCgcttataaagtggaggaggg	11	8	15	7	1	0	1	0	1	0	0	0	4	0	4	1	5	1	2	1	5	4	3	rs112493968		C3N-00560_TP	C3N-00560_NB	C	C																c.1311C>A	p.=	p.G437G	ENST00000338316	9/25	246	230	16	189	189	0	strelka-varscan-mutect	ADCY2,synonymous_variant,p.=,ENST00000338316,NM_020546.2;RP11-711G10.1,downstream_gene_variant,,ENST00000514105,;	A	ENST00000338316	Transcript	synonymous_variant	1400/6575	1311/3276	437/1091	G	ggC/ggA	rs112493968,COSM3373954,COSM3373955	1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2			9/25		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,SMART_domains:SM00044,Superfamily_domains:SSF55073											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs112493968	.												A	2	1	57	7707748	7707748	C	A	1	0	0	0	0	0	0	0	1	338	755	27	1		1	ADCY2	5	7707748	Silent	SNP	C	C3N-00560_TP	293050	7707748	173830511	359	18298											
SEMA5A	0	.	GRCh38	chr5	9108179	9108179	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcaggcccattctcacagatCctgcggcgagcttgaatgcc	8	9	10	14	2	2	2	2	1	1	1	4	3	3	2	3	2	3	1	3	2	1	2			C3N-00560_TP	C3N-00560_NB	C	C																c.2034G>C	p.Arg678Ser	p.R678S	ENST00000382496	16/23	145	105	40	125	125	0	strelka-varscan-mutect	SEMA5A,missense_variant,p.Arg678Ser,ENST00000382496,NM_003966.2;	G	ENST00000382496	Transcript	missense_variant	2700/11762	2034/3225	678/1074	R/S	agG/agC	COSM5430432	1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2	deleterious(0)		16/23		PROSITE_profiles:PS50092,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	57	9108179	9108179	C	G	1	0	0	0	0	1	0	0	0	14313	854	30	4		4	SEMA5A	5	9108179	Missense_Mutation	SNP	C	C3N-00560_TP	1400431	9108179	172430080	360	18299											
CTNND2	0	.	GRCh38	chr5	11022810	11022810	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccgaccaacttctcgatGccaccggcatcccgtaaggc	9	7	9	16	4	1	0	0	0	1	0	3	2	2	0	5	2	3	2	5	2	2	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2958C>T	p.=	p.G986G	ENST00000304623	17/22	488	323	165	299	298	1	strelka-varscan-mutect	CTNND2,synonymous_variant,p.=,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,synonymous_variant,p.=,ENST00000511377,NM_001288715.1;CTNND2,synonymous_variant,p.=,ENST00000503622,NM_001288716.1;CTNND2,synonymous_variant,p.=,ENST00000458100,;RNU6-429P,upstream_gene_variant,,ENST00000384582,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,upstream_gene_variant,,ENST00000506324,;CTNND2,synonymous_variant,p.=,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	A	ENST00000304623	Transcript	synonymous_variant	3148/5481	2958/3678	986/1225	G	ggC/ggT		1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1			17/22		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,SMART_domains:SM00185,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	11022810	11022810	G	A	1	0	0	0	0	0	0	0	1	3829	1306	46	3		3	CTNND2	5	11022810	Silent	SNP	G	C3N-00560_TP	1914631	11022810	170515449	361	18300											
CTNND2	0	.	GRCh38	chr5	11384761	11384761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggaccaggcgcttggtggGcgacagggtggcgtacgtgc	5	7	20	9	4	0	0	0	0	0	0	0	2	0	1	1	6	2	2	1	6	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1081C>A	p.Pro361Thr	p.P361T	ENST00000304623	7/22	455	348	107	268	267	1	strelka-varscan-mutect	CTNND2,missense_variant,p.Pro361Thr,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Pro270Thr,ENST00000511377,NM_001288715.1;CTNND2,intron_variant,,ENST00000503622,NM_001288716.1;CTNND2,intron_variant,,ENST00000502551,;CTNND2,downstream_gene_variant,,ENST00000513598,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,non_coding_transcript_exon_variant,,ENST00000506735,;CTNND2,intron_variant,,ENST00000504354,;CTNND2,intron_variant,,ENST00000511278,;CTNND2,downstream_gene_variant,,ENST00000514132,;CTNND2,non_coding_transcript_exon_variant,,ENST00000507430,;CTNND2,intron_variant,,ENST00000513588,;CTNND2,intron_variant,,ENST00000504499,;	T	ENST00000304623	Transcript	missense_variant	1271/5481	1081/3678	361/1225	P/T	Ccc/Acc		1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	tolerated(0.13)		7/22		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	11384761	11384761	G	T	1	0	0	0	0	1	0	0	0	3829	1203	42	2		2	CTNND2	5	11384761	Missense_Mutation	SNP	G	C3N-00560_TP	361951	11384761	170153498	362	18301											
DNAH5	0	.	GRCh38	chr5	13839530	13839530	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgatatgcatatgacacTgaaattcaaaaggtatatgt	15	14	7	5	0	2	3	1	3	1	0	2	3	2	3	0	1	1	2	0	1	7	6	rs548521732		C3N-00560_TP	C3N-00560_NB	T	T																c.5710-2A>T		p.X1904_splice	ENST00000265104		302	233	69	207	207	0	strelka-varscan-mutect	DNAH5,splice_acceptor_variant,,ENST00000265104,NM_001369.2;	A	ENST00000265104	Transcript	splice_acceptor_variant	-/15633	5710/13875	1904/4624			rs548521732,CS091944	1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2				34/78																		HIGH	1	SNV	1		0,1	1										PASS		rs548521732	.												A	5	1	57	13839530	13839530	T	A	1	0	0	0	0	0	0	1	0	4419	1594	55	4		4	DNAH5	5	13839530	Splice_Site	SNP	T	C3N-00560_TP	2454769	13839530	167698729	363	18302											
FBXL7	0	.	GRCh38	chr5	15928097	15928097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaccccagaaggagcaggCcagcatagaccggctcccgg	11	2	13	15	2	0	3	0	0	0	3	1	4	1	4	5	4	2	3	5	4	2	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.335C>A	p.Ala112Asp	p.A112D	ENST00000504595	3/4	228	192	36	189	189	0	strelka-varscan-mutect	FBXL7,missense_variant,p.Ala112Asp,ENST00000504595,NM_012304.4;FBXL7,missense_variant,p.Ala70Asp,ENST00000329673,;FBXL7,missense_variant,p.Ala65Asp,ENST00000510662,NM_001278317.1;	A	ENST00000504595	Transcript	missense_variant	816/4562	335/1476	112/491	A/D	gCc/gAc		1		1	FBXL7	HGNC	HGNC:13604	protein_coding	YES	CCDS54833.1	ENSP00000423630	Q9UJT9		UPI00000724E0	NM_012304.4	tolerated(0.19)		3/4		Gene3D:3.80.10.10,PROSITE_profiles:PS50181,hmmpanther:PTHR24006,Superfamily_domains:SSF81383																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	15928097	15928097	C	A	1	0	0	0	0	1	0	0	0	5587	739	26	2		2	FBXL7	5	15928097	Missense_Mutation	SNP	C	C3N-00560_TP	2088567	15928097	165610162	364	18303											
CDH18	0	.	GRCh38	chr5	19473604	19473604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaggcctctgtgtcttcCtctccgcctccttcatcatc	5	14	5	17	1	6	0	3	0	3	0	10	0	8	0	5	1	0	0	5	1	1	2	rs764127448		C3N-00560_TP	C3N-00560_NB	C	C																c.1995G>T	p.Glu665Asp	p.E665D	ENST00000507958	15/15	282	214	68	220	220	0	strelka-varscan-mutect	CDH18,missense_variant,p.Glu665Asp,ENST00000507958,NM_001291956.1;CDH18,missense_variant,p.Glu665Asp,ENST00000382275,NM_004934.3;CDH18,missense_variant,p.Glu665Asp,ENST00000274170,;CDH18,3_prime_UTR_variant,,ENST00000506372,NM_001291957.1;CDH18,3_prime_UTR_variant,,ENST00000502796,NM_001167667.1;CDH18,downstream_gene_variant,,ENST00000515257,;CDH18,non_coding_transcript_exon_variant,,ENST00000510297,;	A	ENST00000507958	Transcript	missense_variant	2986/3542	1995/2373	665/790	E/D	gaG/gaT	rs764127448,COSM3947361,COSM3947362	1		-1	CDH18	HGNC	HGNC:1757	protein_coding	YES	CCDS3889.1	ENSP00000425093	Q13634		UPI0000126DBD	NM_001291956.1	deleterious(0)		15/15		Low_complexity_(Seg):seg,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Pfam_domain:PF01049											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs764127448	.												A	3	1	57	19473604	19473604	C	A	1	0	0	0	0	1	0	0	0	2806	680	24	2		2	CDH18	5	19473604	Missense_Mutation	SNP	C	C3N-00560_TP	3545507	19473604	162064655	365	18304											
CDH18	0	.	GRCh38	chr5	19838891	19838891	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtttggtttctcatcacCttgatggagctgtggtgagc	5	16	13	7	0	2	2	2	2	1	0	3	3	2	3	1	4	2	3	1	4	0	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.96G>T	p.Lys32Asn	p.K32N	ENST00000507958	5/15	617	492	125	455	455	0	strelka-varscan-mutect	CDH18,missense_variant,p.Lys32Asn,ENST00000507958,NM_001291956.1;CDH18,missense_variant,p.Lys32Asn,ENST00000382275,NM_004934.3;CDH18,missense_variant,p.Lys32Asn,ENST00000274170,;CDH18,missense_variant,p.Lys32Asn,ENST00000506372,NM_001291957.1;CDH18,missense_variant,p.Lys32Asn,ENST00000502796,NM_001167667.1;CDH18,missense_variant,p.Lys32Asn,ENST00000511273,;CDH18,upstream_gene_variant,,ENST00000515257,;CDH18,downstream_gene_variant,,ENST00000507632,;CDH18,downstream_gene_variant,,ENST00000511423,;CDH18,downstream_gene_variant,,ENST00000503132,;	A	ENST00000507958	Transcript	missense_variant	1087/3542	96/2373	32/790	K/N	aaG/aaT		1		-1	CDH18	HGNC	HGNC:1757	protein_coding	YES	CCDS3889.1	ENSP00000425093	Q13634		UPI0000126DBD	NM_001291956.1	tolerated(0.3)		5/15		hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	19838891	19838891	C	A	1	0	0	0	0	1	0	0	0	2806	680	24	2		2	CDH18	5	19838891	Missense_Mutation	SNP	C	C3N-00560_TP	365287	19838891	161699368	366	18305											
CDH12	0	.	GRCh38	chr5	22078450	22078450	+	Frame_Shift_Del	DEL	C	C	-																															agaaatacgccattacctttCccacatactgaggctcggag																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.227delG	p.Gly76GlufsTer7	p.G76Efs*7	ENST00000382254	5/15	238	178	60	164	164	0	sindel-varindel-pindel	CDH12,frameshift_variant,p.Gly76GlufsTer7,ENST00000382254,NM_004061.3;CDH12,frameshift_variant,p.Gly76GlufsTer7,ENST00000504376,;CDH12,frameshift_variant,p.Gly76GlufsTer7,ENST00000522262,;CDH12,downstream_gene_variant,,ENST00000518209,;CDH12,downstream_gene_variant,,ENST00000521745,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;	-	ENST00000382254	Transcript	frameshift_variant	1314/4164	227/2385	76/794	G/X	gGa/ga		1		-1	CDH12	HGNC	HGNC:1751	protein_coding	YES	CCDS3890.1	ENSP00000371689	P55289		UPI00000622EB	NM_004061.3			5/15		Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF96,Superfamily_domains:SSF49313																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	57	22078450	22078450	C	-	1	0	1	0	1	0	0	0	0	2801	869	30	0		0	CDH12	5	22078450	Frame_Shift_Del	DEL	C	C3N-00560_TP	2239559	22078450	159459809	367	18306											
PRDM9	0	.	GRCh38	chr5	23527144	23527144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcactcaccagaggacaCacacaggggagaagccctat	13	5	9	14	0	2	2	2	0	0	2	3	4	3	3	3	3	1	0	3	3	2	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2056C>A	p.His686Asn	p.H686N	ENST00000296682	11/11	210	195	15	150	150	0	varscan-mutect	PRDM9,missense_variant,p.His686Asn,ENST00000296682,NM_020227.2;PRDM9,downstream_gene_variant,,ENST00000635252,;	A	ENST00000296682	Transcript	missense_variant	2238/3691	2056/2685	686/894	H/N	Cac/Aac		1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	deleterious(0)		11/11		PROSITE_profiles:PS50157,hmmpanther:PTHR16515:SF10,hmmpanther:PTHR16515,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	23527144	23527144	C	A	1	0	0	0	0	1	0	0	0	12595	478	17	2		2	PRDM9	5	23527144	Missense_Mutation	SNP	C	C3N-00560_TP	1448694	23527144	158011115	368	18307											
CDH9	0	.	GRCh38	chr5	26906734	26906734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacctgattctgggtccaCtgaaaaatatggctgtcctt	9	14	9	9	0	1	2	0	2	1	0	3	2	3	2	3	2	1	2	3	2	4	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.628G>A	p.Val210Met	p.V210M	ENST00000231021	4/12	379	266	113	254	254	0	strelka-varscan-mutect	CDH9,missense_variant,p.Val210Met,ENST00000231021,NM_016279.3;CDH9,non_coding_transcript_exon_variant,,ENST00000505045,;	T	ENST00000231021	Transcript	missense_variant	801/3079	628/2370	210/789	V/M	Gtg/Atg		1		-1	CDH9	HGNC	HGNC:1768	protein_coding	YES	CCDS3893.1	ENSP00000231021	Q9ULB4		UPI000013C945	NM_016279.3	deleterious(0)		4/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF99,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	26906734	26906734	C	T	1	0	0	0	0	1	0	0	0	2820	565	20	3		3	CDH9	5	26906734	Missense_Mutation	SNP	C	C3N-00560_TP	3379590	26906734	154631525	369	18308											
TARS	0	.	GRCh38	chr5	33448682	33448682	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcctgatggtaaacaggttGatgcggaatcttggaaaact	12	11	12	6	1	1	2	0	2	1	0	1	4	1	4	1	4	4	2	1	4	5	3			C3N-00560_TP	C3N-00560_NB	G	G																c.280G>C	p.Asp94His	p.D94H	ENST00000455217	3/20	195	146	49	118	118	0	strelka-varscan-mutect	TARS,missense_variant,p.Asp94His,ENST00000265112,NM_152295.4;TARS,missense_variant,p.Asp94His,ENST00000502553,NM_001258437.1;TARS,missense_variant,p.Asp94His,ENST00000455217,NM_001258438.1;TARS,missense_variant,p.Asp35His,ENST00000506040,;TARS,missense_variant,p.Asp94His,ENST00000514259,;TARS,intron_variant,,ENST00000627006,;TARS,downstream_gene_variant,,ENST00000626210,;TARS,downstream_gene_variant,,ENST00000502508,;TARS,missense_variant,p.Asp94His,ENST00000507716,;TARS,missense_variant,p.Asp94His,ENST00000505012,;TARS,3_prime_UTR_variant,,ENST00000509731,;TARS,3_prime_UTR_variant,,ENST00000513066,;TARS,intron_variant,,ENST00000508361,;	C	ENST00000455217	Transcript	missense_variant	402/2523	280/2271	94/756	D/H	Gat/Cat	COSM4792231	1		1	TARS	HGNC	HGNC:11572	protein_coding	YES	CCDS58943.1	ENSP00000387710	P26639		UPI00017A6D60	NM_001258438.1	deleterious(0.03)		3/20		hmmpanther:PTHR11451:SF36,hmmpanther:PTHR11451,Gene3D:3.10.20.30											1						MODERATE	1	SNV	2		1	1										PASS		.	.												C	3	2	57	33448682	33448682	G	C	1	0	0	0	0	1	0	0	0	15958	1290	45	4		4	TARS	5	33448682	Missense_Mutation	SNP	G	C3N-00560_TP	6541948	33448682	148089577	370	18309											
UGT3A2	0	.	GRCh38	chr5	36049038	36049038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaaaactggcctagagcCttctgtgaaatgttccttga	12	11	9	9	0	1	4	0	2	1	2	2	4	2	4	3	1	2	1	3	1	4	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.694G>T	p.Gly232Cys	p.G232C	ENST00000282507	4/7	546	454	92	260	260	0	strelka-varscan-mutect	UGT3A2,missense_variant,p.Gly232Cys,ENST00000282507,NM_174914.3;UGT3A2,missense_variant,p.Gly198Cys,ENST00000513300,NM_001168316.1;UGT3A2,downstream_gene_variant,,ENST00000515131,;UGT3A2,intron_variant,,ENST00000504954,;UGT3A2,intron_variant,,ENST00000504685,;	A	ENST00000282507	Transcript	missense_variant	796/2355	694/1572	232/523	G/C	Ggc/Tgc		1		-1	UGT3A2	HGNC	HGNC:27266	protein_coding	YES	CCDS3914.1	ENSP00000282507	Q3SY77		UPI000013DCE8	NM_174914.3	deleterious(0.02)		4/7		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF320,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	36049038	36049038	C	A	1	0	0	0	0	1	0	0	0	17488	681	24	2		2	UGT3A2	5	36049038	Missense_Mutation	SNP	C	C3N-00560_TP	2600356	36049038	145489221	371	18310											
C5orf42	0	.	GRCh38	chr5	37205367	37205367	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgcttccaaagaggcTggttgacctaaaacacactg	11	13	8	9	0	0	2	0	1	0	1	1	2	1	2	2	2	2	3	2	2	3	6	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.3237A>T	p.=	p.P1079P	ENST00000425232	18/52	249	208	41	142	142	0	strelka-varscan-mutect	C5orf42,synonymous_variant,p.=,ENST00000425232,NM_023073.3;C5orf42,synonymous_variant,p.=,ENST00000508244,;C5orf42,synonymous_variant,p.=,ENST00000514429,;C5orf42,synonymous_variant,p.=,ENST00000509849,;C5orf42,non_coding_transcript_exon_variant,,ENST00000505431,;OFD1P17,upstream_gene_variant,,ENST00000437639,;	A	ENST00000425232	Transcript	synonymous_variant	3468/11199	3237/9594	1079/3197	P	ccA/ccT		1		-1	C5orf42	HGNC	HGNC:25801	protein_coding	YES	CCDS34146.2	ENSP00000389014	Q9H799		UPI0001AAB3EA	NM_023073.3			18/52		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF3																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	57	37205367	37205367	T	A	1	0	0	0	0	0	0	0	1	2100	1567	55	4		4	C5orf42	5	37205367	Silent	SNP	T	C3N-00560_TP	1156329	37205367	144332892	372	18311											
C9	0	.	GRCh38	chr5	39308344	39308344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggcatctctttatgtCttttagttcaacacctgttt	8	17	5	11	0	3	0	1	0	2	0	4	0	3	0	2	1	1	3	2	1	4	6	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1126G>T	p.Asp376Tyr	p.D376Y	ENST00000263408	8/11	370	300	70	260	260	0	strelka-varscan-mutect	C9,missense_variant,p.Asp376Tyr,ENST00000263408,NM_001737.3;	A	ENST00000263408	Transcript	missense_variant	1222/2713	1126/1680	376/559	D/Y	Gac/Tac		1		-1	C9	HGNC	HGNC:1358	protein_coding	YES	CCDS3929.1	ENSP00000263408	P02748		UPI0000001065	NM_001737.3	deleterious(0)		8/11		PROSITE_profiles:PS51412,hmmpanther:PTHR19325:SF362,hmmpanther:PTHR19325,Pfam_domain:PF01823,SMART_domains:SM00457																	MODERATE	1	SNV	1			1										PASS		rs1195276908	.												A	3	1	57	39308344	39308344	C	A	1	0	0	0	0	1	0	0	0	2169	913	32	2		2	C9	5	39308344	Missense_Mutation	SNP	C	C3N-00560_TP	2102977	39308344	142229915	373	18312											
C7	0	.	GRCh38	chr5	40934417	40934417	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctgtgaacctacaagAggatgtccaacagaggaggg	13	6	13	9	0	0	3	0	1	0	2	2	5	2	5	3	3	3	0	3	3	4	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.231A>T	p.Arg77Ser	p.R77S	ENST00000313164	4/18	350	279	71	209	209	0	strelka-varscan-mutect	C7,missense_variant,p.Arg77Ser,ENST00000313164,NM_000587.2;C7,upstream_gene_variant,,ENST00000489457,;C7,non_coding_transcript_exon_variant,,ENST00000508185,;	T	ENST00000313164	Transcript	missense_variant	590/4257	231/2532	77/843	R/S	agA/agT		1		1	C7	HGNC	HGNC:1346	protein_coding	YES	CCDS47201.1	ENSP00000322061	P10643		UPI000020CA08	NM_000587.2	deleterious(0)		4/18		Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF389,SMART_domains:SM00209																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	40934417	40934417	A	T	1	0	0	0	0	1	0	0	0	2134	301	11	4		4	C7	5	40934417	Missense_Mutation	SNP	A	C3N-00560_TP	1626073	40934417	140603842	374	18313											
C7	0	.	GRCh38	chr5	40937597	40937597	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacagagtcatcaatacCaaaagttttggtggtcaatg	15	10	10	6	0	3	1	3	0	0	1	3	2	3	2	1	3	2	1	1	3	6	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.474C>A	p.=	p.T158T	ENST00000313164	6/18	163	114	49	90	90	0	strelka-varscan-mutect	C7,synonymous_variant,p.=,ENST00000313164,NM_000587.2;C7,downstream_gene_variant,,ENST00000489457,;C7,non_coding_transcript_exon_variant,,ENST00000508185,;	A	ENST00000313164	Transcript	synonymous_variant	833/4257	474/2532	158/843	T	acC/acA		1		1	C7	HGNC	HGNC:1346	protein_coding	YES	CCDS47201.1	ENSP00000322061	P10643		UPI000020CA08	NM_000587.2			6/18		PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF389																	LOW	1	SNV	1			1										PASS		rs1204257939	.												A	2	1	57	40937597	40937597	C	A	1	0	0	0	0	0	0	0	1	2134	581	21	2		2	C7	5	40937597	Silent	SNP	C	C3N-00560_TP	3180	40937597	140600662	375	18314											
C7	0	.	GRCh38	chr5	40958159	40958159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgccggccttgtcaaaatGgtggtttggctactgttgag	7	14	13	7	1	1	1	1	1	0	0	1	1	1	1	2	4	2	3	2	4	3	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1387G>T	p.Gly463Cys	p.G463C	ENST00000313164	11/18	217	171	46	113	112	1	strelka-varscan-mutect	C7,missense_variant,p.Gly463Cys,ENST00000313164,NM_000587.2;	T	ENST00000313164	Transcript	missense_variant	1746/4257	1387/2532	463/843	G/C	Ggt/Tgt		1		1	C7	HGNC	HGNC:1346	protein_coding	YES	CCDS47201.1	ENSP00000322061	P10643		UPI000020CA08	NM_000587.2	deleterious(0)		11/18		Gene3D:2.10.25.10,Prints_domain:PR00764,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF389																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	40958159	40958159	G	T	1	0	0	0	0	1	0	0	0	2134	1348	47	2		2	C7	5	40958159	Missense_Mutation	SNP	G	C3N-00560_TP	20562	40958159	140580100	376	18315											
C7	0	.	GRCh38	chr5	40959502	40959502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggagcccctgtgtccaaGggaagaaaacaagaagccgt	13	6	12	10	1	0	2	0	0	0	2	1	4	1	4	4	2	3	0	4	2	6	1			C3N-00560_TP	C3N-00560_NB	G	G																c.1543G>T	p.Gly515Trp	p.G515W	ENST00000313164	12/18	260	211	49	141	141	0	strelka-varscan-mutect	C7,missense_variant,p.Gly515Trp,ENST00000313164,NM_000587.2;C7,upstream_gene_variant,,ENST00000486779,;	T	ENST00000313164	Transcript	missense_variant	1902/4257	1543/2532	515/843	G/W	Ggg/Tgg	COSM3616461	1		1	C7	HGNC	HGNC:1346	protein_coding	YES	CCDS47201.1	ENSP00000322061	P10643		UPI000020CA08	NM_000587.2	deleterious(0)		12/18		Gene3D:2.20.100.10,Pfam_domain:PF00090,Prints_domain:PR01705,PROSITE_profiles:PS50092,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF389,SMART_domains:SM00209,Superfamily_domains:SSF82895											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	57	40959502	40959502	G	T	1	0	0	0	0	1	0	0	0	2134	1000	35	2		2	C7	5	40959502	Missense_Mutation	SNP	G	C3N-00560_TP	1343	40959502	140578757	377	18316											
C7	0	.	GRCh38	chr5	40981442	40981442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcggagtgcgaggaagaaGggtttagcatttgtgtggaa	11	10	16	4	2	0	1	0	0	0	1	1	5	0	4	0	4	2	2	0	4	4	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2401G>T	p.Gly801Trp	p.G801W	ENST00000313164	18/18	426	351	75	267	265	2	strelka-varscan-mutect	C7,missense_variant,p.Gly801Trp,ENST00000313164,NM_000587.2;C7,downstream_gene_variant,,ENST00000494960,;C7,non_coding_transcript_exon_variant,,ENST00000464864,;C7,downstream_gene_variant,,ENST00000513922,;	T	ENST00000313164	Transcript	missense_variant	2760/4257	2401/2532	801/843	G/W	Ggg/Tgg		1		1	C7	HGNC	HGNC:1346	protein_coding	YES	CCDS47201.1	ENSP00000322061	P10643		UPI000020CA08	NM_000587.2	deleterious(0)		18/18		SMART_domains:SM00057																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	40981442	40981442	G	T	1	0	0	0	0	1	0	0	0	2134	1000	35	2		2	C7	5	40981442	Missense_Mutation	SNP	G	C3N-00560_TP	21940	40981442	140556817	378	18317											
MROH2B	0	.	GRCh38	chr5	41009990	41009990	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgtgaaagctggctatctgGgagatggcttctagaatgaa	12	11	13	5	0	2	4	0	2	2	2	2	5	2	4	0	3	1	3	0	3	5	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3225C>A	p.=	p.S1075S	ENST00000399564	31/42	222	180	42	118	118	0	strelka-varscan-mutect	MROH2B,synonymous_variant,p.=,ENST00000399564,NM_173489.4;MROH2B,synonymous_variant,p.=,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;	T	ENST00000399564	Transcript	synonymous_variant	3676/5239	3225/4758	1075/1585	S	tcC/tcA		1		-1	MROH2B	HGNC	HGNC:26857	protein_coding	YES	CCDS47202.1	ENSP00000382476	Q7Z745		UPI000020CA04	NM_173489.4			31/42		hmmpanther:PTHR23120:SF22,hmmpanther:PTHR23120,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	41009990	41009990	G	T	1	0	0	0	0	0	0	0	1	9745	1219	43	2		2	MROH2B	5	41009990	Silent	SNP	G	C3N-00560_TP	28548	41009990	140528269	379	18318											
C6	0	.	GRCh38	chr5	41149347	41149347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccattctaactggcggccGtcttggcaggaaccaatatg	9	9	10	13	2	2	0	0	0	2	0	2	1	2	1	4	4	2	1	4	4	4	4	rs567176554		C3N-00560_TP	C3N-00560_NB	G	G																c.2517C>A	p.Asp839Glu	p.D839E	ENST00000263413	17/18	722	618	104	418	418	0	strelka-varscan-mutect	C6,missense_variant,p.Asp839Glu,ENST00000263413,NM_001115131.2;C6,missense_variant,p.Asp839Glu,ENST00000337836,NM_000065.3;C6,downstream_gene_variant,,ENST00000461473,;	T	ENST00000263413	Transcript	missense_variant	2782/3661	2517/2805	839/934	D/E	gaC/gaA	rs567176554,COSM1166373	1		-1	C6	HGNC	HGNC:1339	protein_coding	YES	CCDS3936.1	ENSP00000263413	P13671		UPI000013D401	NM_001115131.2	tolerated(0.41)		17/18		PROSITE_profiles:PS51465,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,SMART_domains:SM00057											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs567176554	.												T	3	4	57	41149347	41149347	G	T	1	0	0	0	0	1	0	0	0	2111	1136	40	1		1	C6	5	41149347	Missense_Mutation	SNP	G	C3N-00560_TP	139357	41149347	140388912	380	18319											
C6	0	.	GRCh38	chr5	41159116	41159116	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatgtgcagtcttcctCttgtcgcttctccccctcac	6	14	6	15	1	4	1	1	1	3	0	7	1	5	1	3	0	1	2	3	0	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1822G>T	p.Glu608Ter	p.E608*	ENST00000263413	12/18	452	361	91	264	263	1	strelka-varscan-mutect	C6,stop_gained,p.Glu608Ter,ENST00000263413,NM_001115131.2;C6,stop_gained,p.Glu608Ter,ENST00000337836,NM_000065.3;C6,downstream_gene_variant,,ENST00000475349,;C6,upstream_gene_variant,,ENST00000461473,;C6,downstream_gene_variant,,ENST00000473450,;C6,non_coding_transcript_exon_variant,,ENST00000511470,;	A	ENST00000263413	Transcript	stop_gained	2087/3661	1822/2805	608/934	E/*	Gag/Tag		1		-1	C6	HGNC	HGNC:1339	protein_coding	YES	CCDS3936.1	ENSP00000263413	P13671		UPI000013D401	NM_001115131.2			12/18		PROSITE_profiles:PS50092,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	41159116	41159116	C	A	1	0	0	0	0	0	1	0	0	2111	922	32	2		2	C6	5	41159116	Nonsense_Mutation	SNP	C	C3N-00560_TP	9769	41159116	140379143	381	18320											
HCN1	0	.	GRCh38	chr5	45695776	45695776	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcggagggagaatttgttGaccccgggctgcagcatgga	9	8	16	8	2	0	2	0	1	0	1	0	5	0	4	2	4	3	4	2	4	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.318C>A	p.=	p.V106V	ENST00000303230	1/8	1063	532	531	603	603	0	strelka-varscan-mutect	HCN1,synonymous_variant,p.=,ENST00000303230,NM_021072.3;HCN1,synonymous_variant,p.=,ENST00000634658,;HCN1,upstream_gene_variant,,ENST00000638054,;	T	ENST00000303230	Transcript	synonymous_variant	559/9885	318/2673	106/890	V	gtC/gtA		1		-1	HCN1	HGNC	HGNC:4845	protein_coding	YES	CCDS3952.1	ENSP00000307342	O60741		UPI00001AED69	NM_021072.3			1/8		Pfam_domain:PF08412,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	45695776	45695776	G	T	1	0	0	0	0	0	0	0	1	6883	1277	45	2		2	HCN1	5	45695776	Silent	SNP	G	C3N-00560_TP	4536660	45695776	135842483	382	18321											
MAP1B	0	.	GRCh38	chr5	72199573	72199573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgcagaaaagaagtcccCctcagaagcccgtcaggatg	13	5	10	13	1	2	3	2	0	0	3	3	4	3	4	3	1	2	1	3	1	4	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.6218C>A	p.Pro2073His	p.P2073H	ENST00000296755	5/7	248	157	91	307	307	0	strelka-varscan-mutect	MAP1B,missense_variant,p.Pro2073His,ENST00000296755,NM_001324255.1,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;	A	ENST00000296755	Transcript	missense_variant	6516/12036	6218/7407	2073/2468	P/H	cCc/cAc		1		1	MAP1B	HGNC	HGNC:6836	protein_coding	YES	CCDS4012.1	ENSP00000296755	P46821		UPI000013E382	NM_001324255.1,NM_005909.3	tolerated(0.55)		5/7		hmmpanther:PTHR13843:SF5,hmmpanther:PTHR13843																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	72199573	72199573	C	A	1	0	0	0	0	1	0	0	0	9151	623	22	2		2	MAP1B	5	72199573	Missense_Mutation	SNP	C	C3N-00560_TP	26503797	72199573	109338686	383	18322											
ARHGEF28	0	.	GRCh38	chr5	73909583	73909583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgtgcaccagcttcagCaccagctccagcaggagcag	11	5	10	15	0	1	0	1	0	0	0	2	1	2	1	4	1	6	6	4	1	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.4333C>T	p.His1445Tyr	p.H1445Y	ENST00000545377	34/37	188	108	80	216	216	0	strelka-varscan-mutect	ARHGEF28,missense_variant,p.His1445Tyr,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.His1445Tyr,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.His1445Tyr,ENST00000426542,;ARHGEF28,missense_variant,p.His1445Tyr,ENST00000437974,;ARHGEF28,missense_variant,p.His1445Tyr,ENST00000296794,;ARHGEF28,missense_variant,p.His1132Tyr,ENST00000296799,NM_001244364.1;ARHGEF28,missense_variant,p.His365Tyr,ENST00000512883,;ARHGEF28,non_coding_transcript_exon_variant,,ENST00000503341,;ARHGEF28,downstream_gene_variant,,ENST00000510312,;	T	ENST00000545377	Transcript	missense_variant	4509/6351	4333/5196	1445/1731	H/Y	Cac/Tac		1		1	ARHGEF28	HGNC	HGNC:30322	protein_coding	YES	CCDS47231.2	ENSP00000441913	Q8N1W1		UPI00004DF58E	NM_001080479.2	tolerated(1)		34/37		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF133,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	73909583	73909583	C	T	1	0	0	0	0	1	0	0	0	1036	710	25	3		3	ARHGEF28	5	73909583	Missense_Mutation	SNP	C	C3N-00560_TP	1710010	73909583	107628676	384	18323											
IQGAP2	0	.	GRCh38	chr5	76683114	76683114	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttgctttctacataaaGctcctgttggaacaccagga	10	13	9	9	0	1	0	0	0	1	0	2	2	2	2	2	2	4	4	2	2	4	5	rs113692837		C3N-00560_TP	C3N-00560_NB	G	G																c.3661-1G>T		p.X1221_splice	ENST00000274364		76	40	36	103	103	0	strelka-varscan-mutect	IQGAP2,splice_acceptor_variant,,ENST00000274364,NM_006633.3;IQGAP2,splice_acceptor_variant,,ENST00000379730,NM_001285460.1;IQGAP2,splice_acceptor_variant,,ENST00000505766,;IQGAP2,splice_acceptor_variant,,ENST00000502745,NM_001285462.1;IQGAP2,splice_acceptor_variant,,ENST00000396234,NM_001285461.1;IQGAP2,splice_acceptor_variant,,ENST00000504477,;IQGAP2,splice_acceptor_variant,,ENST00000512256,;	T	ENST00000274364	Transcript	splice_acceptor_variant	-/5844	3661/4728	1221/1575			rs113692837	1		1	IQGAP2	HGNC	HGNC:6111	protein_coding	YES	CCDS34188.1	ENSP00000274364	Q13576		UPI000020CB2C	NM_006633.3				28/35																		HIGH	1	SNV	1			1										PASS		rs113692837	.												T	5	4	57	76683114	76683114	G	T	1	0	0	0	0	0	0	1	0	7721	985	34	2		2	IQGAP2	5	76683114	Splice_Site	SNP	G	C3N-00560_TP	2773531	76683114	104855145	385	18324											
BHMT	0	.	GRCh38	chr5	79130969	79130969	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagaatcttcggatagcCtcaggccggccatacaaccc	10	7	11	13	2	2	1	1	0	1	1	3	3	2	2	4	4	3	0	4	4	4	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1074C>T	p.=	p.A358A	ENST00000274353	8/8	99	52	47	123	123	0	strelka-varscan-mutect	BHMT,synonymous_variant,p.=,ENST00000274353,NM_001713.2;BHMT,synonymous_variant,p.=,ENST00000524080,;DMGDH,intron_variant,,ENST00000520388,;DMGDH,intron_variant,,ENST00000518707,;BHMT,downstream_gene_variant,,ENST00000521279,;BHMT,downstream_gene_variant,,ENST00000523508,;	T	ENST00000274353	Transcript	synonymous_variant	1181/2502	1074/1221	358/406	A	gcC/gcT		1		1	BHMT	HGNC	HGNC:1047	protein_coding	YES	CCDS4046.1	ENSP00000274353	Q93088	V9HWA4	UPI000006D864	NM_001713.2			8/8		hmmpanther:PTHR21091:SF116,hmmpanther:PTHR21091,Gene3D:3.20.20.330,PIRSF_domain:PIRSF037505,Superfamily_domains:SSF82282																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	79130969	79130969	C	T	1	0	0	0	0	0	0	0	1	1574	668	24	3		3	BHMT	5	79130969	Silent	SNP	C	C3N-00560_TP	2447855	79130969	102407290	386	18325											
RASGRF2	0	.	GRCh38	chr5	81070519	81070519	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttaataaaaccaaagaaCgaatgcgaccttaccaaagc	18	7	5	11	2	1	1	0	0	1	1	1	3	1	1	3	0	5	0	3	0	8	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.571C>A	p.=	p.R191R	ENST00000265080	4/27	91	56	35	148	148	0	strelka-varscan-mutect	RASGRF2,synonymous_variant,p.=,ENST00000265080,NM_006909.2;RASGRF2,non_coding_transcript_exon_variant,,ENST00000502677,;RASGRF2,non_coding_transcript_exon_variant,,ENST00000514946,;RASGRF2,synonymous_variant,p.=,ENST00000503795,;	A	ENST00000265080	Transcript	synonymous_variant	638/8167	571/3714	191/1237	R	Cga/Aga		1		1	RASGRF2	HGNC	HGNC:9876	protein_coding	YES	CCDS4052.1	ENSP00000265080	O14827		UPI0000047ABF	NM_006909.2			4/27		hmmpanther:PTHR23113:SF187,hmmpanther:PTHR23113																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	81070519	81070519	C	A	1	0	0	0	0	0	0	0	1	13234	528	19	1		1	RASGRF2	5	81070519	Silent	SNP	C	C3N-00560_TP	1939550	81070519	100467740	387	18326											
HAPLN1	0	.	GRCh38	chr5	83641691	83641691	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccaggcagcaaatatctgGcccacttttgcaatctgagc	10	11	8	12	0	2	1	0	1	2	0	3	1	3	1	2	2	3	3	2	2	3	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.870C>A	p.=	p.G290G	ENST00000274341	5/5	252	163	89	312	312	0	strelka-varscan-mutect	HAPLN1,synonymous_variant,p.=,ENST00000274341,NM_001884.3;HAPLN1,downstream_gene_variant,,ENST00000510978,;HAPLN1,downstream_gene_variant,,ENST00000504713,;HAPLN1,downstream_gene_variant,,ENST00000508307,;HAPLN1,downstream_gene_variant,,ENST00000503117,;	T	ENST00000274341	Transcript	synonymous_variant	1721/5607	870/1065	290/354	G	ggC/ggA		1		-1	HAPLN1	HGNC	HGNC:2380	protein_coding	YES	CCDS4061.1	ENSP00000274341	P10915	A0A024RAK9	UPI0000131BFF	NM_001884.3			5/5		PROSITE_profiles:PS50963,hmmpanther:PTHR22804:SF10,hmmpanther:PTHR22804,PROSITE_patterns:PS01241,Gene3D:3.10.100.10,Pfam_domain:PF00193,SMART_domains:SM00445,Superfamily_domains:SSF56436																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	83641691	83641691	G	T	1	0	0	0	0	0	0	0	1	6840	1190	42	2		2	HAPLN1	5	83641691	Silent	SNP	G	C3N-00560_TP	2571172	83641691	97896568	388	18327											
TTC37	0	.	GRCh38	chr5	95528119	95528119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctctgataaagactgttaCcagacgcaccaagattatct	13	11	6	11	1	2	4	0	1	2	3	3	4	3	4	3	0	1	2	3	0	5	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1028G>A	p.Gly343Asp	p.G343D	ENST00000358746	13/43	180	108	72	258	258	0	strelka-varscan-mutect	TTC37,missense_variant,p.Gly343Asp,ENST00000358746,NM_014639.3;TTC37,missense_variant,p.Gly295Asp,ENST00000514952,;TTC37,non_coding_transcript_exon_variant,,ENST00000504421,;TTC37,intron_variant,,ENST00000505578,;TTC37,upstream_gene_variant,,ENST00000513232,;TTC37,downstream_gene_variant,,ENST00000503279,;	T	ENST00000358746	Transcript	missense_variant	1327/5706	1028/4695	343/1564	G/D	gGt/gAt		1		-1	TTC37	HGNC	HGNC:23639	protein_coding	YES	CCDS4072.1	ENSP00000351596	Q6PGP7		UPI00000709BD	NM_014639.3	tolerated(0.12)		13/43		PROSITE_profiles:PS50293,hmmpanther:PTHR15704,hmmpanther:PTHR15704:SF7,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		rs1290716289	.												T	3	4	57	95528119	95528119	C	T	1	0	0	0	0	1	0	0	0	17214	507	18	3		3	TTC37	5	95528119	Missense_Mutation	SNP	C	C3N-00560_TP	11886428	95528119	86010140	389	18328											
MAN2A1	0	.	GRCh38	chr5	109865060	109865060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaatgggcactccaatgagGcagccttgatcctccacaga	11	7	10	13	0	0	3	0	2	0	1	3	3	3	3	4	2	1	3	4	2	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3196G>T	p.Ala1066Ser	p.A1066S	ENST00000261483	21/22	148	79	69	203	203	0	strelka-varscan-mutect	MAN2A1,missense_variant,p.Ala1066Ser,ENST00000261483,NM_002372.3;MAN2A1,non_coding_transcript_exon_variant,,ENST00000505313,;MAN2A1,non_coding_transcript_exon_variant,,ENST00000503970,;MAN2A1,non_coding_transcript_exon_variant,,ENST00000513921,;	T	ENST00000261483	Transcript	missense_variant	4248/4667	3196/3435	1066/1144	A/S	Gca/Tca		1		1	MAN2A1	HGNC	HGNC:6824	protein_coding	YES	CCDS34209.1	ENSP00000261483	Q16706		UPI000013D193	NM_002372.3	tolerated(0.1)		21/22		hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF4,Pfam_domain:PF07748,Superfamily_domains:SSF74650																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	109865060	109865060	G	T	1	0	0	0	0	1	0	0	0	9135	1203	42	2		2	MAN2A1	5	109865060	Missense_Mutation	SNP	G	C3N-00560_TP	14336941	109865060	71673199	390	18329											
TRIM36	0	.	GRCh38	chr5	115163571	115163571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggggaggggagccgaagtCgaggactgctttgattggag	9	8	19	5	2	0	1	0	1	0	0	1	7	0	5	1	6	2	1	1	6	2	3			C3N-00560_TP	C3N-00560_NB	C	C																c.245G>T	p.Arg82Leu	p.R82L	ENST00000282369	2/10	253	132	121	283	283	0	strelka-varscan-mutect	TRIM36,missense_variant,p.Arg70Leu,ENST00000513154,NM_001300759.1;TRIM36,missense_variant,p.Arg82Leu,ENST00000282369,NM_018700.3;TRIM36,missense_variant,p.Arg70Leu,ENST00000508894,;TRIM36,intron_variant,,ENST00000514154,NM_001300752.1;TRIM36,non_coding_transcript_exon_variant,,ENST00000515104,;TRIM36,intron_variant,,ENST00000510222,;	A	ENST00000282369	Transcript	missense_variant	367/4050	245/2187	82/728	R/L	cGa/cTa	COSM420445,COSM4812093	1		-1	TRIM36	HGNC	HGNC:16280	protein_coding	YES	CCDS4115.1	ENSP00000282369	Q9NQ86		UPI000013DCD9	NM_018700.3	deleterious(0.01)		2/10		PROSITE_profiles:PS50089,Low_complexity_(Seg):seg,SMART_domains:SM00184											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs957625882	.												A	3	1	57	115163571	115163571	C	A	1	0	0	0	0	1	0	0	0	16999	884	31	1		1	TRIM36	5	115163571	Missense_Mutation	SNP	C	C3N-00560_TP	5298511	115163571	66374688	391	18330											
SLC12A2	0	.	GRCh38	chr5	128135709	128135709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaattgcaggctcagattGttcttttggtgatcctactt	9	17	8	7	0	2	2	1	1	1	1	3	2	3	2	1	2	2	3	1	2	3	8	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1309G>T	p.Val437Phe	p.V437F	ENST00000262461	7/27	134	83	51	192	192	0	strelka-varscan-mutect	SLC12A2,missense_variant,p.Val437Phe,ENST00000262461,NM_001046.2;SLC12A2,missense_variant,p.Val437Phe,ENST00000343225,NM_001256461.1;SLC12A2,missense_variant,p.Val437Phe,ENST00000628403,;SLC12A2,missense_variant,p.Val437Phe,ENST00000509205,;	T	ENST00000262461	Transcript	missense_variant	1498/6885	1309/3639	437/1212	V/F	Gtt/Ttt		1		1	SLC12A2	HGNC	HGNC:10911	protein_coding	YES	CCDS4144.1	ENSP00000262461	P55011	Q53ZR1	UPI000013541A	NM_001046.2	tolerated(0.24)		7/27		Pfam_domain:PF00324,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF58,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00930,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	128135709	128135709	G	T	1	0	0	0	0	1	0	0	0	14648	1377	48	2		2	SLC12A2	5	128135709	Missense_Mutation	SNP	G	C3N-00560_TP	12972138	128135709	53402550	392	18331											
ANKHD1	0	.	GRCh38	chr5	140449282	140449282	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaacagatgagatgcacActgccttaatggaggcctgc	14	7	10	10	0	0	2	0	1	0	2	0	4	0	3	2	2	4	1	2	2	3	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1219A>C	p.Thr407Pro	p.T407P	ENST00000532219	7/36	117	74	43	159	159	0	strelka-varscan-mutect	ANKHD1-EIF4EBP3,missense_variant,p.Thr407Pro,ENST00000532219,NM_020690.5;ANKHD1,missense_variant,p.Thr407Pro,ENST00000360839,NM_017747.2;ANKHD1,missense_variant,p.Thr407Pro,ENST00000421134,;ANKHD1,missense_variant,p.Thr407Pro,ENST00000394723,NM_024668.3;ANKHD1,missense_variant,p.Thr407Pro,ENST00000616482,NM_001197030.1;ANKHD1,missense_variant,p.Thr396Pro,ENST00000394722,NM_017978.2;ANKHD1,5_prime_UTR_variant,,ENST00000297183,;ANKHD1,downstream_gene_variant,,ENST00000511151,;	C	ENST00000532219	Transcript	missense_variant	1279/8246	1219/7854	407/2617	T/P	Act/Cct		1		1	ANKHD1-EIF4EBP3	HGNC	HGNC:33530	protein_coding	YES	CCDS4224.1	ENSP00000432016			UPI0000074448	NM_020690.5	deleterious(0)		7/36		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR23206:SF5,hmmpanther:PTHR23206,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,Superfamily_domains:SSF48403																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	57	140449282	140449282	A	C	1	0	0	0	0	1	0	0	0	730	159	6	5		5	ANKHD1	5	140449282	Missense_Mutation	SNP	A	C3N-00560_TP	12313573	140449282	41088977	393	18332											
PCDHA4	0	.	GRCh38	chr5	140808069	140808069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgaaatccaagtttcaCatagatccaattactggaca	16	11	6	8	0	1	2	1	1	0	1	3	3	3	3	2	1	1	1	2	1	6	3	rs781875261		C3N-00560_TP	C3N-00560_NB	C	C																c.882C>A	p.His294Gln	p.H294Q	ENST00000530339	1/4	77	41	36	154	154	0	strelka-varscan-mutect	PCDHA4,missense_variant,p.His294Gln,ENST00000618834,NM_031500.2;PCDHA4,missense_variant,p.His294Gln,ENST00000530339,NM_018907.3;PCDHA4,missense_variant,p.His294Gln,ENST00000512229,;PCDHA4,missense_variant,p.His293Gln,ENST00000378125,;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA3,downstream_gene_variant,,ENST00000532566,NM_031497.1;PCDHA2,downstream_gene_variant,,ENST00000520672,NM_031496.1;AC005609.16,intron_variant,,ENST00000624712,;	A	ENST00000530339	Transcript	missense_variant	882/5251	882/2844	294/947	H/Q	caC/caA	rs781875261	1		1	PCDHA4	HGNC	HGNC:8670	protein_coding	YES	CCDS54916.1	ENSP00000435300	Q9UN74		UPI00001273CC	NM_018907.3	tolerated_low_confidence(0.31)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF82,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs781875261	.												A	3	1	57	140808069	140808069	C	A	1	0	0	0	0	1	0	0	0	11613	477	17	2		2	PCDHA4	5	140808069	Missense_Mutation	SNP	C	C3N-00560_TP	358787	140808069	40730190	394	18333											
PCDHA4	0	.	GRCh38	chr5	140808691	140808691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagcggcgggtaggggagCgcgcgctgtcgagctacgtt	6	7	19	9	7	0	1	0	0	0	1	1	3	0	2	0	4	4	4	0	4	3	4	rs140993559		C3N-00560_TP	C3N-00560_NB	C	C																c.1504C>A	p.Arg502Ser	p.R502S	ENST00000530339	1/4	621	317	304	781	780	1	strelka-varscan-mutect	PCDHA4,missense_variant,p.Arg502Ser,ENST00000618834,NM_031500.2;PCDHA4,missense_variant,p.Arg502Ser,ENST00000530339,NM_018907.3;PCDHA4,missense_variant,p.Arg502Ser,ENST00000512229,;PCDHA4,missense_variant,p.Arg501Ser,ENST00000378125,;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA3,downstream_gene_variant,,ENST00000532566,NM_031497.1;PCDHA2,downstream_gene_variant,,ENST00000520672,NM_031496.1;AC005609.16,intron_variant,,ENST00000624712,;	A	ENST00000530339	Transcript	missense_variant	1504/5251	1504/2844	502/947	R/S	Cgc/Agc	rs140993559	1		1	PCDHA4	HGNC	HGNC:8670	protein_coding	YES	CCDS54916.1	ENSP00000435300	Q9UN74		UPI00001273CC	NM_018907.3	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF82,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs140993559	.												A	3	1	57	140808691	140808691	C	A	1	0	0	0	0	1	0	0	0	11613	768	27	1		1	PCDHA4	5	140808691	Missense_Mutation	SNP	C	C3N-00560_TP	622	140808691	40729568	395	18334											
PCDHA9	0	.	GRCh38	chr5	140849778	140849778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagctggtggttaccgcgcGggacgggggctcgccttcac	4	7	17	13	6	1	0	1	0	0	0	2	2	1	1	2	5	2	3	2	5	1	2	rs781905467		C3N-00560_TP	C3N-00560_NB	G	G																c.1283G>A	p.Arg428Gln	p.R428Q	ENST00000532602	1/4	348	187	161	435	435	0	strelka-varscan-mutect	PCDHA9,missense_variant,p.Arg428Gln,ENST00000378122,NM_014005.4;PCDHA9,missense_variant,p.Arg428Gln,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.19,upstream_gene_variant,,ENST00000623320,;	A	ENST00000532602	Transcript	missense_variant	2316/6293	1283/2853	428/950	R/Q	cGg/cAg	rs781905467,COSM4524630,COSM4524631	1		1	PCDHA9	HGNC	HGNC:8675	protein_coding	YES	CCDS54920.1	ENSP00000436042	Q9Y5H5		UPI00001273D1	NM_031857.1	tolerated_low_confidence(0.14)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs781905467	.												A	3	1	57	140849778	140849778	G	A	1	0	0	0	0	1	0	0	0	11618	1116	39	1		1	PCDHA9	5	140849778	Missense_Mutation	SNP	G	C3N-00560_TP	41087	140849778	40688481	396	18335											
PCDHA10	0	.	GRCh38	chr5	140857428	140857428	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcgcagtccgagtacacGgtgttcgtgaaggagaacaa	11	8	13	9	5	0	2	0	1	0	1	3	4	1	2	1	2	2	3	1	2	4	3	rs782142394		C3N-00560_TP	C3N-00560_NB	G	G																c.1380G>T	p.=	p.T460T	ENST00000307360	1/4	649	361	288	774	773	1	strelka-varscan-mutect	PCDHA10,synonymous_variant,p.=,ENST00000562220,NM_031859.2;PCDHA10,synonymous_variant,p.=,ENST00000307360,NM_018901.3;PCDHA10,synonymous_variant,p.=,ENST00000506939,NM_031860.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA9,downstream_gene_variant,,ENST00000378122,NM_014005.4;PCDHA14,upstream_gene_variant,,ENST00000506751,;	T	ENST00000307360	Transcript	synonymous_variant	1380/5254	1380/2847	460/948	T	acG/acT	rs782142394,COSM1633993,COSM1633994,COSM1633995	1		1	PCDHA10	HGNC	HGNC:8664	protein_coding	YES	CCDS54921.1	ENSP00000304234	Q9Y5I2		UPI00001273D3	NM_018901.3			1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF124,Superfamily_domains:SSF49313											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs782142394	.												T	2	4	57	140857428	140857428	G	T	1	0	0	0	0	0	0	0	1	11607	1103	39	1		1	PCDHA10	5	140857428	Silent	SNP	G	C3N-00560_TP	7650	140857428	40680831	397	18336											
PCDHGA9	0	.	GRCh38	chr5	141404226	141404226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatatcacggtgactgcaaCagacagaggaactccgcccc	13	6	9	13	2	1	3	1	1	0	2	2	4	2	4	3	2	3	1	3	2	4	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1274C>T	p.Thr425Ile	p.T425I	ENST00000573521	1/4	148	91	57	202	202	0	strelka-varscan-mutect	PCDHGA9,missense_variant,p.Thr425Ile,ENST00000573521,NM_018921.2;PCDHGA9,missense_variant,p.Thr425Ile,ENST00000616887,NM_032089.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGB6,upstream_gene_variant,,ENST00000616430,NM_032100.1;PCDHGB6,upstream_gene_variant,,ENST00000520790,NM_018926.2;PCDHGB5,downstream_gene_variant,,ENST00000621169,NM_032099.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000573521	Transcript	missense_variant	1274/4605	1274/2799	425/932	T/I	aCa/aTa		1		1	PCDHGA9	HGNC	HGNC:8707	protein_coding	YES	CCDS58981.1	ENSP00000460274	Q9Y5G4		UPI00000721C3	NM_018921.2	tolerated_low_confidence(0.08)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF86,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	141404226	141404226	C	T	1	0	0	0	0	1	0	0	0	11648	478	17	3		3	PCDHGA9	5	141404226	Missense_Mutation	SNP	C	C3N-00560_TP	546798	141404226	40134033	398	18337											
AFAP1L1	0	.	GRCh38	chr5	149310112	149310112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctggcactgcagagccgaGagcaggccgaggagtggctg	8	5	18	10	2	0	2	0	0	0	2	0	5	0	3	2	4	4	5	2	4	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.904G>A	p.Glu302Lys	p.E302K	ENST00000296721	8/19	78	43	35	88	88	0	strelka-varscan-mutect	AFAP1L1,missense_variant,p.Glu302Lys,ENST00000296721,NM_152406.2;AFAP1L1,missense_variant,p.Glu302Lys,ENST00000515000,NM_001146337.1;AFAP1L1,downstream_gene_variant,,ENST00000522492,;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000455574,;	A	ENST00000296721	Transcript	missense_variant	1002/4177	904/2307	302/768	E/K	Gag/Aag		1		1	AFAP1L1	HGNC	HGNC:26714	protein_coding	YES	CCDS34274.1	ENSP00000296721	Q8TED9		UPI00001C1E2F	NM_152406.2	deleterious(0)		8/19		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF1,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	149310112	149310112	G	A	1	0	0	0	0	1	0	0	0	431	943	33	3		3	AFAP1L1	5	149310112	Missense_Mutation	SNP	G	C3N-00560_TP	7905886	149310112	32228147	399	18338											
GRPEL2	0	.	GRCh38	chr5	149349652	149349652	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttgcttttgatattcAggtgagataccagagagcta	11	15	10	5	0	1	4	1	3	0	2	1	6	1	4	1	1	3	2	1	1	3	8	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.232-2A>T		p.X78_splice	ENST00000329271		77	34	43	91	91	0	strelka-varscan-mutect	GRPEL2,splice_acceptor_variant,,ENST00000329271,NM_152407.3;GRPEL2,splice_acceptor_variant,,ENST00000513661,;GRPEL2,intron_variant,,ENST00000416916,;GRPEL2-AS1,intron_variant,,ENST00000521295,;GRPEL2,splice_acceptor_variant,,ENST00000507562,;	T	ENST00000329271	Transcript	splice_acceptor_variant	-/4089	232/678	78/225				1		1	GRPEL2	HGNC	HGNC:21060	protein_coding	YES	CCDS4295.1	ENSP00000329558	Q8TAA5		UPI000004A0F1	NM_152407.3				2/3																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	57	149349652	149349652	A	T	1	0	0	0	0	0	0	1	0	6689	202	7	4		4	GRPEL2	5	149349652	Splice_Site	SNP	A	C3N-00560_TP	39540	149349652	32188607	400	18339											
ZNF300	0	.	GRCh38	chr5	150895855	150895855	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtacattcataaggtttttCcccagtatgaactaactgat	13	14	6	8	0	1	2	1	2	0	0	2	2	2	2	2	1	3	3	2	1	5	7			C3N-00560_TP	C3N-00560_NB	C	C																c.1432G>T	p.Glu478Ter	p.E478*	ENST00000446148	7/7	137	78	59	166	166	0	strelka-varscan-mutect	ZNF300,stop_gained,p.Glu478Ter,ENST00000446148,NM_001172831.1;ZNF300,stop_gained,p.Glu462Ter,ENST00000274599,NM_052860.2;ZNF300,stop_gained,p.Glu462Ter,ENST00000394226,;ZNF300,stop_gained,p.Glu426Ter,ENST00000418587,NM_001172832.1;ZNF300,3_prime_UTR_variant,,ENST00000427179,;IRGM,intron_variant,,ENST00000520549,;	A	ENST00000446148	Transcript	stop_gained	1860/3323	1432/1863	478/620	E/*	Gaa/Taa	COSM5413859,COSM5413860	1		-1	ZNF300	HGNC	HGNC:13091	protein_coding	YES	CCDS54940.1	ENSP00000397178	Q96RE9		UPI0001AE74AD	NM_001172831.1			7/7		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF320,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												A	4	1	57	150895855	150895855	C	A	1	0	0	0	0	0	1	0	0	18406	864	30	2		2	ZNF300	5	150895855	Nonsense_Mutation	SNP	C	C3N-00560_TP	1546203	150895855	30642404	401	18340											
ZNF300	0	.	GRCh38	chr5	150896741	150896741	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaaatattttccccagTggattatatttatgccctga	10	17	6	8	0	1	2	0	2	1	0	2	3	2	3	3	1	1	0	3	1	5	8	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.546A>G	p.=	p.P182P	ENST00000446148	7/7	200	116	84	290	289	1	strelka-varscan-mutect	ZNF300,synonymous_variant,p.=,ENST00000446148,NM_001172831.1;ZNF300,synonymous_variant,p.=,ENST00000274599,NM_052860.2;ZNF300,synonymous_variant,p.=,ENST00000394226,;ZNF300,synonymous_variant,p.=,ENST00000418587,NM_001172832.1;ZNF300,3_prime_UTR_variant,,ENST00000427179,;IRGM,intron_variant,,ENST00000520549,;	C	ENST00000446148	Transcript	synonymous_variant	974/3323	546/1863	182/620	P	ccA/ccG		1		-1	ZNF300	HGNC	HGNC:13091	protein_coding	YES	CCDS54940.1	ENSP00000397178	Q96RE9		UPI0001AE74AD	NM_001172831.1			7/7		hmmpanther:PTHR24377:SF320,hmmpanther:PTHR24377																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	57	150896741	150896741	T	C	1	0	0	0	0	0	0	0	1	18406	1683	59	5		5	ZNF300	5	150896741	Silent	SNP	T	C3N-00560_TP	886	150896741	30641518	402	18341											
FAT2	0	.	GRCh38	chr5	151565686	151565686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtacctgtatcttggttGatgctgaaggctgcgagtcc	7	12	12	10	1	1	2	0	2	1	0	2	3	2	2	3	2	3	5	3	2	3	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3246C>T	p.=	p.I1082I	ENST00000261800	1/23	38	20	18	35	35	0	strelka-varscan-mutect	FAT2,synonymous_variant,p.=,ENST00000261800,NM_001447.2;	A	ENST00000261800	Transcript	synonymous_variant	3259/14534	3246/13050	1082/4349	I	atC/atT		1		-1	FAT2	HGNC	HGNC:3596	protein_coding	YES	CCDS4317.1	ENSP00000261800	Q9NYQ8		UPI0000055B22	NM_001447.2			1/23		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	151565686	151565686	G	A	1	0	0	0	0	0	0	0	1	5550	1280	45	3		3	FAT2	5	151565686	Silent	SNP	G	C3N-00560_TP	668945	151565686	29972573	403	18342											
FAM71B	0	.	GRCh38	chr5	157162899	157162899	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgattcttgtcccccgctcTcctgcggtgactttcacctg	3	14	8	16	2	3	2	1	2	2	0	5	2	4	2	4	1	1	1	4	1	0	3	rs746344491		C3N-00560_TP	C3N-00560_NB	T	T																c.1366A>T	p.Arg456Ter	p.R456*	ENST00000302938	2/2	212	103	109	284	284	0	strelka-varscan-mutect	FAM71B,stop_gained,p.Arg456Ter,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;MED7,upstream_gene_variant,,ENST00000524289,;	A	ENST00000302938	Transcript	stop_gained	1462/2515	1366/1818	456/605	R/*	Aga/Tga	rs746344491	1		-1	FAM71B	HGNC	HGNC:28397	protein_coding	YES	CCDS4335.1	ENSP00000305596	Q8TC56	A0A140VJJ4	UPI000006F9DC	NM_130899.2			2/2		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2																	HIGH	1	SNV	1			1										PASS		rs746344491	.												A	4	1	57	157162899	157162899	T	A	1	0	0	0	0	0	1	0	0	5472	1559	54	4		4	FAM71B	5	157162899	Nonsense_Mutation	SNP	T	C3N-00560_TP	5597213	157162899	24375360	404	18343											
UBLCP1	0	.	GRCh38	chr5	159269009	159269022	+	Frame_Shift_Del	DEL	CTCAAGACCCTTAC	CTCAAGACCCTTAC	-																															tgctcgatctcaaacagtttCtcaagacccttacaggagtt																								novel		C3N-00560_TP	C3N-00560_NB	CTCAAGACCCTTAC	CTCAAGACCCTTAC																c.94_107delCTCAAGACCCTTAC	p.Leu32ArgfsTer15	p.L32Rfs*15	ENST00000296786	2/11	174	118	56	239	239	0	sindel-varindel-pindel	UBLCP1,frameshift_variant,p.Leu32ArgfsTer15,ENST00000296786,NM_145049.3;	-	ENST00000296786	Transcript	frameshift_variant	420-433/2392	94-107/957	32-36/318	LKTLT/X	CTCAAGACCCTTACa/a		1		1	UBLCP1	HGNC	HGNC:28110	protein_coding	YES	CCDS4345.1	ENSP00000296786	Q8WVY7		UPI0000071EAA	NM_145049.3			2/11		PROSITE_profiles:PS50053,hmmpanther:PTHR32054,Pfam_domain:PF00240,Gene3D:3.10.20.90,SMART_domains:SM00213,Superfamily_domains:SSF54236																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	57	159269009	159269009	CTCAAGACCCTTAC	-	1	0	1	0	1	0	0	0	0	17415	913	32	0		0	UBLCP1	5	159269009	Frame_Shift_Del	DEL	CTCAAGACCCTTAC	C3N-00560_TP	2106110	159269009	22269250	405	18344											
IL12B	0	.	GRCh38	chr5	159323053	159323053	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatccaagggtatagaattaCctttctggtcctttaaaata	13	15	6	7	0	1	1	0	0	1	1	3	1	3	1	3	2	1	1	3	2	9	8	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.364+1G>T		p.X122_splice	ENST00000231228		149	88	61	244	243	1	strelka-varscan-mutect	IL12B,splice_donor_variant,,ENST00000231228,NM_002187.2;RNU4ATAC2P,downstream_gene_variant,,ENST00000408674,;AC008697.1,intron_variant,,ENST00000521472,;	A	ENST00000231228	Transcript	splice_donor_variant	-/2761	364/987	122/328				1		-1	IL12B	HGNC	HGNC:5970	protein_coding	YES	CCDS4346.1	ENSP00000231228	P29460		UPI00000358B7	NM_002187.2				3/7																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	57	159323053	159323053	C	A	1	0	0	0	0	0	0	1	0	7533	521	18	2		2	IL12B	5	159323053	Splice_Site	SNP	C	C3N-00560_TP	54044	159323053	22215206	406	18345											
GABRB2	0	.	GRCh38	chr5	161294408	161294408	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctcgagagtgctcagtaaGatgttctcatgggggtccat	9	12	12	8	1	3	2	2	0	2	2	6	3	4	2	1	2	1	3	1	2	1	2	rs770274870		C3N-00560_TP	C3N-00560_NB	G	G																c.1212C>G	p.Ile404Met	p.I404M	ENST00000274547	11/11	76	45	31	114	114	0	strelka-varscan-mutect	GABRB2,missense_variant,p.Ile404Met,ENST00000274547,NM_021911.2;GABRB2,missense_variant,p.Ile404Met,ENST00000393959,;GABRB2,missense_variant,p.Ile366Met,ENST00000520240,;GABRB2,missense_variant,p.Ile366Met,ENST00000353437,NM_000813.2;GABRB2,missense_variant,p.Ile303Met,ENST00000517901,;GABRB2,missense_variant,p.Ile206Met,ENST00000517547,;	C	ENST00000274547	Transcript	missense_variant	1430/7409	1212/1539	404/512	I/M	atC/atG	rs770274870	1		-1	GABRB2	HGNC	HGNC:4082	protein_coding	YES	CCDS4355.1	ENSP00000274547	P47870		UPI000002AA29	NM_021911.2	tolerated(0.09)		11/11		TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112																	MODERATE	1	SNV	5			1										PASS		rs770274870	.												C	3	2	57	161294408	161294408	G	C	1	0	0	0	0	1	0	0	0	6038	932	33	4		4	GABRB2	5	161294408	Missense_Mutation	SNP	G	C3N-00560_TP	1971355	161294408	20243851	407	18346											
STC2	0	.	GRCh38	chr5	173317910	173317910	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgcttccggaaggtccCtgagccccaaggcccccgac	6	6	11	18	3	0	1	0	1	0	0	3	3	2	2	6	3	2	2	6	3	2	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.846G>A	p.=	p.Q282Q	ENST00000265087	4/4	63	34	29	51	51	0	strelka-varscan-mutect	STC2,synonymous_variant,p.=,ENST00000265087,NM_003714.2;STC2,downstream_gene_variant,,ENST00000520593,;	T	ENST00000265087	Transcript	synonymous_variant	2156/5353	846/909	282/302	Q	caG/caA		1		-1	STC2	HGNC	HGNC:11374	protein_coding	YES	CCDS4388.1	ENSP00000265087	O76061	Q6FHC9	UPI00001360B8	NM_003714.2			4/4		hmmpanther:PTHR11245:SF2,hmmpanther:PTHR11245																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	173317910	173317910	C	T	1	0	0	0	0	0	0	0	1	15652	680	24	3		3	STC2	5	173317910	Silent	SNP	C	C3N-00560_TP	12023502	173317910	8220349	408	18347											
DDX41	0	.	GRCh38	chr5	177514948	177514948	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gatgagtccatagggcccctCgcgctttgagaagggtaacc	9	8	13	11	2	0	2	0	2	0	1	2	4	1	2	4	2	1	2	4	2	3	3	rs746011550		C3N-00560_TP	C3N-00560_NB	C	C																c.766G>C	p.Glu256Gln	p.E256Q	ENST00000507955	8/17	143	106	37	179	179	0	strelka-varscan-mutect	DDX41,missense_variant,p.Glu256Gln,ENST00000507955,NM_016222.2;DDX41,missense_variant,p.Glu274Gln,ENST00000330503,;FAM193B,downstream_gene_variant,,ENST00000514747,NM_001190946.1;DOK3,upstream_gene_variant,,ENST00000312943,NM_001144875.1;FAM193B,downstream_gene_variant,,ENST00000524677,;DOK3,upstream_gene_variant,,ENST00000377112,NM_001144876.1;DOK3,upstream_gene_variant,,ENST00000501403,NM_001308236.1,NM_001308235.1;DDX41,downstream_gene_variant,,ENST00000629036,;DOK3,upstream_gene_variant,,ENST00000509310,;DOK3,upstream_gene_variant,,ENST00000510389,;DDX41,downstream_gene_variant,,ENST00000625286,;DDX41,downstream_gene_variant,,ENST00000506965,;FAM193B,downstream_gene_variant,,ENST00000504130,;DDX41,missense_variant,p.Glu82Gln,ENST00000508279,;DDX41,3_prime_UTR_variant,,ENST00000504781,;DDX41,non_coding_transcript_exon_variant,,ENST00000505081,;DDX41,non_coding_transcript_exon_variant,,ENST00000503078,;DDX41,non_coding_transcript_exon_variant,,ENST00000507900,;DDX41,non_coding_transcript_exon_variant,,ENST00000512431,;DDX41,non_coding_transcript_exon_variant,,ENST00000511040,;DDX41,non_coding_transcript_exon_variant,,ENST00000513562,;FAM193B,downstream_gene_variant,,ENST00000506955,;FAM193B,downstream_gene_variant,,ENST00000510479,;FAM193B,downstream_gene_variant,,ENST00000510163,;FAM193B,downstream_gene_variant,,ENST00000505569,;DDX41,downstream_gene_variant,,ENST00000515562,;DOK3,upstream_gene_variant,,ENST00000502380,;DDX41,downstream_gene_variant,,ENST00000509576,;DDX41,upstream_gene_variant,,ENST00000504807,;DDX41,upstream_gene_variant,,ENST00000512334,;FAM193B,downstream_gene_variant,,ENST00000513282,;DDX41,upstream_gene_variant,,ENST00000512027,;FAM193B,downstream_gene_variant,,ENST00000506879,;DDX41,downstream_gene_variant,,ENST00000510171,;	G	ENST00000507955	Transcript	missense_variant	1290/2607	766/1869	256/622	E/Q	Gag/Cag	rs746011550,COSM4558399	1		-1	DDX41	HGNC	HGNC:18674	protein_coding	YES	CCDS4427.1	ENSP00000422753	Q9UJV9		UPI0000125164	NM_016222.2	deleterious(0.01)		8/17		PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF20,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs746011550	.												G	3	3	57	177514948	177514948	C	G	1	0	0	0	0	1	0	0	0	4164	893	31	4		4	DDX41	5	177514948	Missense_Mutation	SNP	C	C3N-00560_TP	4197038	177514948	4023311	409	18348											
ZNF354A	0	.	GRCh38	chr5	178712949	178712949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtataaaaaggcctgacCttcggctgaaggatttacca	13	10	10	8	1	0	2	0	2	0	0	1	4	0	3	3	3	1	2	3	3	6	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.929G>T	p.Arg310Met	p.R310M	ENST00000335815	5/5	169	96	73	263	263	0	strelka-varscan-mutect	ZNF354A,missense_variant,p.Arg310Met,ENST00000335815,NM_001324339.1,NM_005649.2;ZNF354A,downstream_gene_variant,,ENST00000520331,;	A	ENST00000335815	Transcript	missense_variant	1127/2484	929/1818	310/605	R/M	aGg/aTg		1		-1	ZNF354A	HGNC	HGNC:11628	protein_coding	YES	CCDS4438.1	ENSP00000337122	O60765	V9HWI2	UPI000013EB5E	NM_001324339.1,NM_005649.2	tolerated(0.17)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF146,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	178712949	178712949	C	A	1	0	0	0	0	1	0	0	0	18436	681	24	2		2	ZNF354A	5	178712949	Missense_Mutation	SNP	C	C3N-00560_TP	1198001	178712949	2825310	410	18349											
RUFY1	0	.	GRCh38	chr5	179591649	179591649	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaacaggataccaaagttGagctggagacttacaagcaa	18	6	9	8	0	0	2	0	1	0	1	0	4	0	3	1	2	5	3	1	2	7	3	rs762453287		C3N-00560_TP	C3N-00560_NB	G	G																c.1153G>C	p.Glu385Gln	p.E385Q	ENST00000319449	10/18	152	114	38	174	174	0	strelka-varscan-mutect	RUFY1,missense_variant,p.Glu385Gln,ENST00000319449,NM_025158.4;RUFY1,missense_variant,p.Glu277Gln,ENST00000437570,NM_001040451.2;RUFY1,missense_variant,p.Glu277Gln,ENST00000393438,NM_001040452.2;RUFY1,missense_variant,p.Glu63Gln,ENST00000502434,;RUFY1,missense_variant,p.Glu174Gln,ENST00000508609,;RP11-1379J22.2,downstream_gene_variant,,ENST00000500262,;RUFY1,downstream_gene_variant,,ENST00000514238,;RUFY1,3_prime_UTR_variant,,ENST00000393448,;RUFY1,non_coding_transcript_exon_variant,,ENST00000509797,;RUFY1,upstream_gene_variant,,ENST00000502531,;	C	ENST00000319449	Transcript	missense_variant	1165/2646	1153/2127	385/708	E/Q	Gag/Cag	rs762453287	1		1	RUFY1	HGNC	HGNC:19760	protein_coding	YES	CCDS4445.2	ENSP00000325594	Q96T51		UPI0000D74C3F	NM_025158.4	deleterious(0.01)		10/18		hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF84																	MODERATE	1	SNV	1			1										PASS		rs762453287	.												C	3	2	57	179591649	179591649	G	C	1	0	0	0	0	1	0	0	0	14000	1291	45	4		4	RUFY1	5	179591649	Missense_Mutation	SNP	G	C3N-00560_TP	878700	179591649	1946610	411	18350											
FOXF2	0	.	GRCh38	chr6	1390539	1390539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggccgcgcggcttcaggCggaagtgccaggcgctcaag	6	4	17	14	6	2	0	2	0	0	0	2	1	2	1	3	5	1	2	3	5	2	1			C3N-00560_TP	C3N-00560_NB	C	C																c.592C>T	p.Arg198Trp	p.R198W	ENST00000259806	1/2	318	114	204	223	223	0	strelka-varscan-mutect	FOXF2,missense_variant,p.Arg198Trp,ENST00000259806,NM_001452.1;MIR6720,upstream_gene_variant,,ENST00000611664,;	T	ENST00000259806	Transcript	missense_variant	706/2187	592/1335	198/444	R/W	Cgg/Tgg	COSM4685354	1		1	FOXF2	HGNC	HGNC:3810	protein_coding	YES	CCDS4472.1	ENSP00000259806	Q12947		UPI000012ADD6	NM_001452.1	deleterious(0)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF224											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	57	1390539	1390539	C	T	1	0	0	0	0	1	0	0	0	5868	759	27	1		1	FOXF2	6	1390539	Missense_Mutation	SNP	C	C3N-00560_TP		1390539	169415440	412	18351											
SERPINB9	0	.	GRCh38	chr6	2896135	2896135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagccttgttcacttcaGtgagaagcgactggaaagcc	10	9	11	11	1	2	1	2	1	0	1	2	4	2	2	3	1	4	1	3	1	2	3	rs769613099		C3N-00560_TP	C3N-00560_NB	G	G																c.224C>A	p.Thr75Asn	p.T75N	ENST00000380698	3/7	268	105	163	205	205	0	strelka-varscan-mutect	SERPINB9,missense_variant,p.Thr75Asn,ENST00000380698,NM_004155.5;	T	ENST00000380698	Transcript	missense_variant	314/4118	224/1131	75/376	T/N	aCt/aAt	rs769613099	1		-1	SERPINB9	HGNC	HGNC:8955	protein_coding	YES	CCDS4478.1	ENSP00000370074	P50453	A0A024QZT4	UPI000000121F	NM_004155.5	tolerated(0.16)		3/7		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF67,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		rs769613099	.												T	3	4	57	2896135	2896135	G	T	1	0	0	0	0	1	0	0	0	14384	1029	36	2		2	SERPINB9	6	2896135	Missense_Mutation	SNP	G	C3N-00560_TP	1505596	2896135	167909844	413	18352											
F13A1	0	.	GRCh38	chr6	6174637	6174637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgaattctgccttcgggaCcccggtgtagaaggtgatgt	7	12	13	9	2	1	3	0	2	1	1	2	4	1	4	3	3	1	1	3	3	3	4			C3N-00560_TP	C3N-00560_NB	C	C																c.1690G>T	p.Val564Phe	p.V564F	ENST00000264870	12/15	442	153	289	360	360	0	strelka-varscan-mutect	F13A1,missense_variant,p.Val564Phe,ENST00000264870,NM_000129.3;	A	ENST00000264870	Transcript	missense_variant	1956/3999	1690/2199	564/732	V/F	Gtc/Ttc	COSM5171604	1		-1	F13A1	HGNC	HGNC:3531	protein_coding	YES	CCDS4496.1	ENSP00000264870	P00488		UPI000013D585	NM_000129.3	deleterious(0)		12/15		Gene3D:2.60.40.10,Pfam_domain:PF00927,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF42,Superfamily_domains:SSF49309											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	57	6174637	6174637	C	A	1	0	0	0	0	1	0	0	0	5208	507	18	2		2	F13A1	6	6174637	Missense_Mutation	SNP	C	C3N-00560_TP	3278502	6174637	164631342	414	18353											
CAGE1	0	.	GRCh38	chr6	7374077	7374077	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttccttttcataactgaCtgacatctcaggaatctccc	10	13	5	13	0	3	2	2	2	2	0	6	4	4	3	2	1	1	0	2	1	2	4			C3N-00560_TP	C3N-00560_NB	C	C																c.742G>T	p.Val248Phe	p.V248F	ENST00000502583	5/14	166	42	124	125	125	0	strelka-varscan-mutect	CAGE1,missense_variant,p.Val248Phe,ENST00000502583,NM_001170692.1;CAGE1,missense_variant,p.Val248Phe,ENST00000379918,;CAGE1,missense_variant,p.Val112Phe,ENST00000296742,NM_205864.2;CAGE1,missense_variant,p.Val248Phe,ENST00000338150,NM_001170693.1;CAGE1,missense_variant,p.Val248Phe,ENST00000512086,;CAGE1,missense_variant,p.Val260Phe,ENST00000512691,;CAGE1,non_coding_transcript_exon_variant,,ENST00000509324,;CAGE1,missense_variant,p.Val248Phe,ENST00000458291,;CAGE1,3_prime_UTR_variant,,ENST00000442019,;	A	ENST00000502583	Transcript	missense_variant	1307/3284	742/2520	248/839	V/F	Gtc/Ttc	COSM319207,COSM319208	1		-1	CAGE1	HGNC	HGNC:21622	protein_coding	YES	CCDS54965.1	ENSP00000425493	Q8TC20		UPI0001C0B380	NM_001170692.1	tolerated(0.05)		5/14		hmmpanther:PTHR36864,Pfam_domain:PF15066											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	57	7374077	7374077	C	A	1	0	0	0	0	1	0	0	0	2262	565	20	2		2	CAGE1	6	7374077	Missense_Mutation	SNP	C	C3N-00560_TP	1199440	7374077	163431902	415	18354											
SYCP2L	0	.	GRCh38	chr6	10893875	10893875	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctttccagcttcaatcActtattacggatgcattcca	10	15	4	12	1	4	0	3	0	1	0	6	1	6	1	2	1	3	2	2	1	3	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.87A>G	p.=	p.S29S	ENST00000283141	3/30	161	119	42	194	194	0	strelka-varscan-mutect	SYCP2L,synonymous_variant,p.=,ENST00000283141,NM_001040274.2;SYCP2L,synonymous_variant,p.=,ENST00000543878,;SYCP2L,synonymous_variant,p.=,ENST00000341041,;RP11-637O19.3,3_prime_UTR_variant,,ENST00000480294,;SYCP2L,upstream_gene_variant,,ENST00000487561,;	G	ENST00000283141	Transcript	synonymous_variant	383/3130	87/2439	29/812	S	tcA/tcG		1		1	SYCP2L	HGNC	HGNC:21537	protein_coding	YES	CCDS43423.1	ENSP00000283141	Q5T4T6		UPI000022CA18	NM_001040274.2			3/30		hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF14																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	57	10893875	10893875	A	G	1	0	0	0	0	0	0	0	1	15823	146	6	5		5	SYCP2L	6	10893875	Silent	SNP	A	C3N-00560_TP	3519798	10893875	159912104	416	18355											
DEK	0	.	GRCh38	chr6	18257981	18257981	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgttgtaaagcagtttgTgtagatttctaagttcatcg	9	16	10	6	1	2	1	1	0	1	1	3	1	2	1	1	0	1	6	1	0	4	7	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.329A>T	p.His110Leu	p.H110L	ENST00000397239	4/11	51	31	20	78	78	0	strelka-varscan-mutect	DEK,missense_variant,p.His110Leu,ENST00000397239,NM_003472.3;DEK,missense_variant,p.His76Leu,ENST00000244776,NM_001134709.1;DEK,missense_variant,p.His115Leu,ENST00000515742,;DEK,missense_variant,p.His43Leu,ENST00000503715,;DEK,missense_variant,p.His82Leu,ENST00000505224,;DEK,upstream_gene_variant,,ENST00000512145,;DEK,upstream_gene_variant,,ENST00000515770,;	A	ENST00000397239	Transcript	missense_variant	777/3427	329/1128	110/375	H/L	cAc/cTc		1		-1	DEK	HGNC	HGNC:2768	protein_coding	YES	CCDS34344.1	ENSP00000380414	P35659		UPI0000001C2C	NM_003472.3	deleterious(0)		4/11		hmmpanther:PTHR13468																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	18257981	18257981	T	A	1	0	0	0	0	1	0	0	0	4229	1696	59	4		4	DEK	6	18257981	Missense_Mutation	SNP	T	C3N-00560_TP	7364106	18257981	152547998	417	18356											
HIST1H4E	0	.	GRCh38	chr6	26204927	26204927	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctacgcgctgaagagacagGgacgcactctttacggcttc	9	9	11	12	4	2	2	0	1	2	1	3	4	2	3	0	2	2	3	0	2	3	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.283G>C	p.Gly95Arg	p.G95R	ENST00000615164	1/1	98	41	57	99	99	0	strelka-varscan-mutect	HIST1H4E,missense_variant,p.Gly95Arg,ENST00000615164,NM_003545.3;HIST1H2BF,downstream_gene_variant,,ENST00000356530,NM_003522.3;RP1-34B20.4,downstream_gene_variant,,ENST00000405418,;	C	ENST00000615164	Transcript	missense_variant	376/1487	283/312	95/103	G/R	Gga/Cga		1		1	HIST1H4E	HGNC	HGNC:4790	protein_coding	YES	CCDS4593.1	ENSP00000484789	P62805	B2R4R0	UPI000000003C	NM_003545.3	deleterious(0.02)		1/1		hmmpanther:PTHR10484,Gene3D:1.10.20.10,Pfam_domain:PF15511,Superfamily_domains:SSF47113,Prints_domain:PR00623																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	57	26204927	26204927	G	C	1	0	0	0	0	1	0	0	0	7057	1233	43	4		4	HIST1H4E	6	26204927	Missense_Mutation	SNP	G	C3N-00560_TP	7946946	26204927	144601052	418	18357											
ZSCAN23	0	.	GRCh38	chr6	28434607	28434607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgaggactgaacgtcgaCtaaaactcttattgcactga	14	11	8	8	2	1	3	0	3	1	0	2	5	1	4	0	1	3	1	0	1	5	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1028G>A	p.Ser343Asn	p.S343N	ENST00000289788	4/4	161	123	38	160	160	0	strelka-varscan-mutect	ZSCAN23,missense_variant,p.Ser343Asn,ENST00000289788,NM_001012455.1;ZSCAN23,downstream_gene_variant,,ENST00000486481,;ZSCAN23,3_prime_UTR_variant,,ENST00000481983,;	T	ENST00000289788	Transcript	missense_variant	1174/3126	1028/1170	343/389	S/N	aGt/aAt		1		-1	ZSCAN23	HGNC	HGNC:21193	protein_coding	YES	CCDS47393.1	ENSP00000289788	Q3MJ62		UPI000019874A	NM_001012455.1	tolerated(0.11)		4/4		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF76,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	28434607	28434607	C	T	1	0	0	0	0	1	0	0	0	18829	565	20	3		3	ZSCAN23	6	28434607	Missense_Mutation	SNP	C	C3N-00560_TP	2229680	28434607	142371372	419	18358											
OR2B3	0	.	GRCh38	chr6	29087024	29087024	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatatgagggactgtagtTgtggtatagcagagatctaa	14	11	12	4	0	1	2	0	1	1	1	1	4	1	3	0	2	2	4	0	2	6	6	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.225A>C	p.=	p.T75T	ENST00000377173	1/1	271	145	126	292	292	0	strelka-varscan-mutect	OR2B3,synonymous_variant,p.=,ENST00000377173,NM_001005226.2;	G	ENST00000377173	Transcript	synonymous_variant	290/1007	225/942	75/313	T	acA/acC		1		-1	OR2B3	HGNC	HGNC:8238	protein_coding	YES	CCDS34358.1	ENSP00000366378	O76000	A0A126GV76	UPI0000041DB9	NM_001005226.2			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF103,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												G	2	3	57	29087024	29087024	T	G	1	0	0	0	0	0	0	0	1	11069	1799	63	5		5	OR2B3	6	29087024	Silent	SNP	T	C3N-00560_TP	652417	29087024	141718955	420	18359											
OR2J3	0	.	GRCh38	chr6	29111981	29111981	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcatctggaagtagttatcTttgtggttgtcttgatcttc	6	19	9	7	0	5	1	1	1	4	0	6	2	5	2	0	2	0	3	0	2	3	6	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.91T>G	p.Phe31Val	p.F31V	ENST00000377169	1/1	163	145	18	210	210	0	strelka-varscan-mutect	OR2J3,missense_variant,p.Phe31Val,ENST00000377169,NM_001005216.3;	G	ENST00000377169	Transcript	missense_variant	91/936	91/936	31/311	F/V	Ttt/Gtt		1		1	OR2J3	HGNC	HGNC:8261	protein_coding	YES	CCDS43433.1	ENSP00000366374	O76001	A0A126GWT2	UPI000014073A	NM_001005216.3	deleterious(0)		1/1		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF209,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	57	29111981	29111981	T	G	1	0	0	0	0	1	0	0	0	11082	1609	56	5		5	OR2J3	6	29111981	Missense_Mutation	SNP	T	C3N-00560_TP	24957	29111981	141693998	421	18360											
OR14J1	0	.	GRCh38	chr6	29307037	29307037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccattctcacagtgatGtcttatgacaggtacgcagc	9	11	11	10	1	2	2	1	2	2	0	3	2	2	2	1	2	2	2	1	2	2	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.348G>T	p.Met116Ile	p.M116I	ENST00000377160	1/1	428	197	231	417	416	1	strelka-varscan-mutect	OR14J1,missense_variant,p.Met116Ile,ENST00000377160,NM_030946.1;	T	ENST00000377160	Transcript	missense_variant	348/966	348/966	116/321	M/I	atG/atT		1		1	OR14J1	HGNC	HGNC:13971	protein_coding	YES	CCDS34362.1	ENSP00000366365	Q9UGF5	A0A126GW10	UPI0000041CEC	NM_030946.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF42,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	57	29307037	29307037	G	T	1	0	0	0	0	1	0	0	0	11025	1377	48	2		2	OR14J1	6	29307037	Missense_Mutation	SNP	G	C3N-00560_TP	195056	29307037	141498942	422	18361											
OR11A1	0	.	GRCh38	chr6	29427156	29427156	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacctcagctgggccaccagGgccacaaccagtccatctac	11	5	8	17	0	2	0	1	0	1	0	3	0	3	0	6	2	4	1	6	2	3	1	rs112976090		C3N-00560_TP	C3N-00560_NB	G	G																c.486C>A	p.=	p.A162A	ENST00000377149	5/5	136	58	78	133	133	0	strelka-varscan-mutect	OR11A1,synonymous_variant,p.=,ENST00000377149,;OR11A1,synonymous_variant,p.=,ENST00000377148,;OR11A1,synonymous_variant,p.=,ENST00000377147,NM_013937.3;OR5V1,intron_variant,,ENST00000377154,;	T	ENST00000377149	Transcript	synonymous_variant	959/2611	486/948	162/315	A	gcC/gcA	rs112976090	1		-1	OR11A1	HGNC	HGNC:8176	protein_coding	YES	CCDS34363.1	ENSP00000366354	Q9GZK7	A0A024RCH9	UPI000000DCA8				5/5		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF178,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs112976090	.												T	2	4	57	29427156	29427156	G	T	1	0	0	0	0	0	0	0	1	11000	1219	43	2		2	OR11A1	6	29427156	Silent	SNP	G	C3N-00560_TP	120119	29427156	141378823	423	18362											
OR2H2	0	.	GRCh38	chr6	29588751	29588751	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctatgcccaagagaggggCaagttctttggtctcttcta	8	12	10	11	0	3	1	0	0	3	1	4	2	3	1	2	3	1	2	2	3	4	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.807C>A	p.=	p.G269G	ENST00000383640	1/1	225	114	111	245	245	0	strelka-varscan-mutect	OR2H2,synonymous_variant,p.=,ENST00000383640,NM_007160.3;GABBR1,intron_variant,,ENST00000355973,;	A	ENST00000383640	Transcript	synonymous_variant	1297/1584	807/939	269/312	G	ggC/ggA		1		1	OR2H2	HGNC	HGNC:8253	protein_coding	YES	CCDS34365.1	ENSP00000373136	O95918		UPI00001404DC	NM_007160.3			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF199,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	57	29588751	29588751	C	A	1	0	0	0	0	0	0	0	1	11080	697	25	2		2	OR2H2	6	29588751	Silent	SNP	C	C3N-00560_TP	161595	29588751	141217228	424	18363											
GABBR1	0	.	GRCh38	chr6	29604861	29604861	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaaagccagatccttaccTtgggcacaaagagcacaaca	17	5	8	11	0	0	3	0	0	0	3	1	3	1	3	3	1	4	2	3	1	5	2	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.2567A>G	p.Lys856Arg	p.K856R	ENST00000377034	21/23	68	26	42	70	70	0	strelka-varscan-mutect	GABBR1,missense_variant,p.Lys856Arg,ENST00000377034,NM_001470.2;GABBR1,missense_variant,p.Lys794Arg,ENST00000377016,NM_021904.2;GABBR1,missense_variant,p.Lys739Arg,ENST00000377012,NM_021903.2;GABBR1,missense_variant,p.Lys739Arg,ENST00000355973,;GABBR1,downstream_gene_variant,,ENST00000376977,;GABBR1,splice_region_variant,,ENST00000472823,;GABBR1,splice_region_variant,,ENST00000491829,;GABBR1,splice_region_variant,,ENST00000478931,;GABBR1,downstream_gene_variant,,ENST00000494877,;GABBR1,downstream_gene_variant,,ENST00000473774,;GABBR1,downstream_gene_variant,,ENST00000488334,;GABBR1,downstream_gene_variant,,ENST00000486434,;GABBR1,downstream_gene_variant,,ENST00000489839,;	C	ENST00000377034	Transcript	missense_variant,splice_region_variant	2903/4527	2567/2886	856/961	K/R	aAg/aGg		1		-1	GABBR1	HGNC	HGNC:4070	protein_coding	YES	CCDS4663.1	ENSP00000366233	Q9UBS5		UPI000004618A	NM_001470.2	deleterious(0)		21/23		PROSITE_profiles:PS50259,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF42,Pfam_domain:PF00003,Prints_domain:PR01176																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	29604861	29604861	T	C	1	0	0	0	0	1	0	0	0	6026	1623	56	5		5	GABBR1	6	29604861	Missense_Mutation	SNP	T	C3N-00560_TP	16110	29604861	141201118	425	18364											
GNL1	0	.	GRCh38	chr6	30552587	30552587	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatcctcctcttcctcctCctccccagagccattacccc	5	10	3	23	0	1	1	0	0	1	1	7	1	7	1	11	0	2	0	11	0	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.979G>T	p.Glu327Ter	p.E327*	ENST00000376621	8/12	103	40	63	127	127	0	strelka-varscan-mutect	GNL1,stop_gained,p.Glu327Ter,ENST00000376621,NM_005275.3;PRR3,upstream_gene_variant,,ENST00000376560,NM_025263.3;PRR3,upstream_gene_variant,,ENST00000376557,NM_001077497.2;GNL1,downstream_gene_variant,,ENST00000433809,;PRR3,upstream_gene_variant,,ENST00000498336,;PRR3,upstream_gene_variant,,ENST00000481741,;GNL1,non_coding_transcript_exon_variant,,ENST00000487166,;GNL1,upstream_gene_variant,,ENST00000462708,;GNL1,upstream_gene_variant,,ENST00000464231,;PRR3,upstream_gene_variant,,ENST00000491173,;	A	ENST00000376621	Transcript	stop_gained	1950/7490	979/1824	327/607	E/*	Gag/Tag		1		-1	GNL1	HGNC	HGNC:4413	protein_coding	YES	CCDS4680.1	ENSP00000365806	P36915	A0A024RCR2	UPI0000073F2B	NM_005275.3			8/12		PROSITE_profiles:PS51721,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	30552587	30552587	C	A	1	0	0	0	0	0	1	0	0	6414	864	30	2		2	GNL1	6	30552587	Nonsense_Mutation	SNP	C	C3N-00560_TP	947726	30552587	140253392	426	18365											
GTF2H4	0	.	GRCh38	chr6	30909057	30909057	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggagagcaccccttcaagGggactgaaccgagtacacct	12	6	11	12	1	1	2	1	1	0	1	1	5	1	3	4	3	3	2	4	3	3	2	rs373085246		C3N-00560_TP	C3N-00560_NB	G	G																c.21G>C	p.Arg7Ser	p.R7S	ENST00000259895	2/14	368	178	190	394	393	1	strelka-varscan-mutect	GTF2H4,missense_variant,p.Arg7Ser,ENST00000259895,NM_001517.4;GTF2H4,missense_variant,p.Arg7Ser,ENST00000376316,;GTF2H4,non_coding_transcript_exon_variant,,ENST00000453897,;VARS2,non_coding_transcript_exon_variant,,ENST00000477288,;GTF2H4,upstream_gene_variant,,ENST00000487746,;GTF2H4,upstream_gene_variant,,ENST00000483318,;GTF2H4,upstream_gene_variant,,ENST00000475845,;	C	ENST00000259895	Transcript	missense_variant	244/1735	21/1389	7/462	R/S	agG/agC	rs373085246	1		1	GTF2H4	HGNC	HGNC:4658	protein_coding	YES	CCDS34386.1	ENSP00000259895	Q92759		UPI000000D741	NM_001517.4	tolerated_low_confidence(0.46)		2/14																			MODERATE	1	SNV	1			1										PASS		rs373085246	.												C	3	2	57	30909057	30909057	G	C	1	0	0	0	0	1	0	0	0	6746	1223	43	4		4	GTF2H4	6	30909057	Missense_Mutation	SNP	G	C3N-00560_TP	356470	30909057	139896922	427	18366											
NEU1	0	.	GRCh38	chr6	31860463	31860463	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcatcaggattgaaatcAttttcctgcttgggctgacc	9	14	8	10	0	3	2	3	2	0	0	4	3	4	3	2	2	1	2	2	2	1	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.774T>A	p.Asn258Lys	p.N258K	ENST00000375631	4/6	490	225	265	457	457	0	strelka-varscan-mutect	NEU1,missense_variant,p.Asn258Lys,ENST00000375631,NM_000434.3;SLC44A4,downstream_gene_variant,,ENST00000544672,NM_001178045.1;SLC44A4,downstream_gene_variant,,ENST00000229729,NM_025257.2;SLC44A4,downstream_gene_variant,,ENST00000375562,NM_001178044.1;SLC44A4,downstream_gene_variant,,ENST00000487680,;NEU1,missense_variant,p.Asn258Lys,ENST00000491768,;NEU1,non_coding_transcript_exon_variant,,ENST00000495807,;NEU1,non_coding_transcript_exon_variant,,ENST00000480384,;	T	ENST00000375631	Transcript	missense_variant	904/2045	774/1248	258/415	N/K	aaT/aaA		1		-1	NEU1	HGNC	HGNC:7758	protein_coding	YES	CCDS4723.1	ENSP00000364782	Q99519	Q5JQI0	UPI000012FF46	NM_000434.3	tolerated(0.33)		4/6		Gene3D:2.120.10.10,Pfam_domain:PF13088,hmmpanther:PTHR10628,hmmpanther:PTHR10628:SF21,Superfamily_domains:SSF50939																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	31860463	31860463	A	T	1	0	0	0	0	1	0	0	0	10376	214	8	4		4	NEU1	6	31860463	Missense_Mutation	SNP	A	C3N-00560_TP	951406	31860463	138945516	428	18367											
KIF6	0	.	GRCh38	chr6	39586318	39586318	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagttgtcatgcagttcccTcccaaactgtctcttaggac	9	13	7	12	0	2	0	1	0	1	0	5	1	4	1	2	1	2	3	2	1	3	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.933A>T	p.=	p.G311G	ENST00000287152	8/23	190	90	100	175	175	0	strelka-varscan-mutect	KIF6,synonymous_variant,p.=,ENST00000287152,NM_145027.4,NM_001289021.1,NM_001289020.1;KIF6,synonymous_variant,p.=,ENST00000458470,;KIF6,synonymous_variant,p.=,ENST00000441975,;KIF6,5_prime_UTR_variant,,ENST00000538893,;	A	ENST00000287152	Transcript	synonymous_variant	1028/9082	933/2445	311/814	G	ggA/ggT		1		-1	KIF6	HGNC	HGNC:21202	protein_coding	YES	CCDS4844.1	ENSP00000287152	Q6ZMV9		UPI0000457436	NM_145027.4,NM_001289021.1,NM_001289020.1			8/23		Gene3D:3.40.850.10,Pfam_domain:PF00225,Prints_domain:PR00380,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF194,SMART_domains:SM00129,Superfamily_domains:SSF52540																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	57	39586318	39586318	T	A	1	0	0	0	0	0	0	0	1	8173	1538	54	4		4	KIF6	6	39586318	Silent	SNP	T	C3N-00560_TP	7725855	39586318	131219661	429	18368											
UNC5CL	0	.	GRCh38	chr6	41033931	41033931	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgggaggcgtgggccccCggccgccccaggggcctcca	3	3	16	19	4	0	0	0	0	0	0	2	1	2	1	8	6	0	0	8	6	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.636G>T	p.=	p.P212P	ENST00000244565	3/9	204	73	131	152	152	0	strelka-varscan-mutect	UNC5CL,synonymous_variant,p.=,ENST00000244565,NM_173561.2;UNC5CL,synonymous_variant,p.=,ENST00000373164,;UNC5CL,upstream_gene_variant,,ENST00000470102,;OARD1,3_prime_UTR_variant,,ENST00000482853,;	A	ENST00000244565	Transcript	synonymous_variant	753/3136	636/1557	212/518	P	ccG/ccT		1		-1	UNC5CL	HGNC	HGNC:21203	protein_coding	YES	CCDS4847.1	ENSP00000244565	Q8IV45	H8YHX0	UPI00001609DB	NM_173561.2			3/9		hmmpanther:PTHR12582																	LOW	1	SNV	1			1										PASS		rs939516044	.												A	2	1	57	41033931	41033931	C	A	1	0	0	0	0	0	0	0	1	17518	639	23	1		1	UNC5CL	6	41033931	Silent	SNP	C	C3N-00560_TP	1447613	41033931	129772048	430	18369											
GUCA1A	0	.	GRCh38	chr6	42173707	42173707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgactgagtgcccctctGgccaactcaccctctatgag	8	10	8	15	0	4	3	2	3	2	0	4	3	4	3	4	1	2	0	4	1	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.94G>T	p.Gly32Cys	p.G32C	ENST00000394237	3/6	633	282	351	585	585	0	strelka-varscan-mutect	GUCA1A,missense_variant,p.Gly32Cys,ENST00000394237,NM_001319061.1;GUCA1A,missense_variant,p.Gly28Cys,ENST00000541991,;GUCA1A,missense_variant,p.Gly32Cys,ENST00000053469,NM_000409.3;GUCA1A,missense_variant,p.Gly32Cys,ENST00000372958,;GUCA1A,missense_variant,p.Gly32Cys,ENST00000418175,;	T	ENST00000394237	Transcript	missense_variant	1070/2233	94/606	32/201	G/C	Ggc/Tgc		1		1	GUCA1A	HGNC	HGNC:4678	protein_coding	YES	CCDS4864.1	ENSP00000377784	P43080		UPI0000001C22	NM_001319061.1	deleterious(0.02)		3/6		PROSITE_profiles:PS50222,hmmpanther:PTHR23055:SF13,hmmpanther:PTHR23055,Gene3D:1.10.238.10,Superfamily_domains:SSF47473,Prints_domain:PR00450																	MODERATE	1	SNV	2			1										PASS		rs1045675208	.												T	3	4	57	42173707	42173707	G	T	1	0	0	0	0	1	0	0	0	6769	1348	47	2		2	GUCA1A	6	42173707	Missense_Mutation	SNP	G	C3N-00560_TP	1139776	42173707	128632272	431	18370											
TTBK1	0	.	GRCh38	chr6	43283980	43283980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggccaaagagcggtggagCaagcgggctcggccgcagca	9	3	17	12	5	0	1	0	0	0	1	2	2	0	2	2	5	4	4	2	5	2	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3240C>G	p.Ser1080Arg	p.S1080R	ENST00000259750	14/15	139	61	78	126	126	0	strelka-varscan-mutect	TTBK1,missense_variant,p.Ser1080Arg,ENST00000259750,NM_032538.1;	G	ENST00000259750	Transcript	missense_variant	3323/6932	3240/3966	1080/1321	S/R	agC/agG		1		1	TTBK1	HGNC	HGNC:19140	protein_coding	YES	CCDS34455.1	ENSP00000259750	Q5TCY1		UPI000041512B	NM_032538.1	tolerated_low_confidence(0.35)		14/15																			MODERATE	1	SNV	1			1										PASS		rs1033890642	.												G	3	3	57	43283980	43283980	C	G	1	0	0	0	0	1	0	0	0	17186	709	25	4		4	TTBK1	6	43283980	Missense_Mutation	SNP	C	C3N-00560_TP	1110273	43283980	127521999	432	18371											
HSP90AB1	0	.	GRCh38	chr6	44253372	44253372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctatcgcatgatcaagctaGgtctaggtaagtagctttgg	10	13	11	7	1	3	1	1	1	2	0	4	1	3	1	0	3	2	5	0	3	6	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2059G>T	p.Gly687Cys	p.G687C	ENST00000371554	11/12	132	64	68	132	132	0	strelka-varscan-mutect	HSP90AB1,missense_variant,p.Gly687Cys,ENST00000371554,;HSP90AB1,missense_variant,p.Gly687Cys,ENST00000620073,NM_001271970.1;HSP90AB1,missense_variant,p.Gly687Cys,ENST00000353801,NM_001271969.1;HSP90AB1,missense_variant,p.Gly687Cys,ENST00000371646,NM_001271971.1,NM_007355.3,NM_001271972.1;NFKBIE,downstream_gene_variant,,ENST00000275015,NM_004556.2;NFKBIE,downstream_gene_variant,,ENST00000619360,;SLC35B2,downstream_gene_variant,,ENST00000619636,NM_001286510.1,NM_001286512.1;SLC35B2,downstream_gene_variant,,ENST00000393812,NM_178148.3,NM_001286509.1;SLC35B2,downstream_gene_variant,,ENST00000615337,NM_001286511.1;SLC35B2,downstream_gene_variant,,ENST00000538577,NM_001286513.1;SLC35B2,downstream_gene_variant,,ENST00000393810,;SLC35B2,downstream_gene_variant,,ENST00000537814,NM_001286519.1,NM_001286520.1;SLC35B2,downstream_gene_variant,,ENST00000583964,;SLC35B2,downstream_gene_variant,,ENST00000495706,;	T	ENST00000371554	Transcript	missense_variant	2273/2674	2059/2175	687/724	G/C	Ggt/Tgt		1		1	HSP90AB1	HGNC	HGNC:5258	protein_coding	YES	CCDS4909.1	ENSP00000360609	P08238	A0A024RD80	UPI00001411EF		deleterious(0.02)		11/12		Pfam_domain:PF00183,PIRSF_domain:PIRSF002583,hmmpanther:PTHR11528																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	57	44253372	44253372	G	T	1	0	0	0	0	1	0	0	0	7298	1000	35	2		2	HSP90AB1	6	44253372	Missense_Mutation	SNP	G	C3N-00560_TP	969392	44253372	126552607	433	18372											
CDC5L	0	.	GRCh38	chr6	44403972	44403972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaggaaaactaccaagctCttgacgcagatttcaggaaa	15	8	9	9	1	2	3	1	2	1	1	2	5	2	5	1	2	3	2	1	2	5	3			C3N-00560_TP	C3N-00560_NB	C	C																c.703C>G	p.Leu235Val	p.L235V	ENST00000371477	6/16	219	100	119	256	256	0	strelka-varscan-mutect	CDC5L,missense_variant,p.Leu235Val,ENST00000371477,NM_001253.3;	G	ENST00000371477	Transcript	missense_variant	1002/6423	703/2409	235/802	L/V	Ctt/Gtt	COSM3830651	1		1	CDC5L	HGNC	HGNC:1743	protein_coding	YES	CCDS4912.1	ENSP00000360532	Q99459		UPI000006EE42	NM_001253.3	tolerated(0.55)		6/16		Coiled-coils_(Ncoils):Coil											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	57	44403972	44403972	C	G	1	0	0	0	0	1	0	0	0	2785	913	32	4		4	CDC5L	6	44403972	Missense_Mutation	SNP	C	C3N-00560_TP	150600	44403972	126402007	434	18373											
TFAP2B	0	.	GRCh38	chr6	50823466	50823466	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccagctgggctcggtgtcCcaaggaccctactcgagcgc	6	7	12	16	3	0	0	0	0	0	0	4	2	2	1	3	3	3	2	3	3	2	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.141C>A	p.=	p.S47S	ENST00000393655	2/7	222	101	121	231	231	0	strelka-varscan-mutect	TFAP2B,synonymous_variant,p.=,ENST00000393655,NM_003221.3;TFAP2B,synonymous_variant,p.=,ENST00000344788,;TFAP2B,non_coding_transcript_exon_variant,,ENST00000489228,;	A	ENST00000393655	Transcript	synonymous_variant	310/5773	141/1383	47/460	S	tcC/tcA		1		1	TFAP2B	HGNC	HGNC:11743	protein_coding	YES	CCDS4934.2	ENSP00000377265	Q92481		UPI000020DE90	NM_003221.3			2/7		Prints_domain:PR01750,hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF14																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	50823466	50823466	C	A	1	0	0	0	0	0	0	0	1	16221	610	22	2		2	TFAP2B	6	50823466	Silent	SNP	C	C3N-00560_TP	6419494	50823466	119982513	435	18374											
GSTA5	0	.	GRCh38	chr6	52834160	52834160	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttttcaaaggcagggaagTagcgattttttattttctct	9	18	8	6	1	2	0	1	0	1	0	3	2	2	1	0	2	1	2	0	2	4	8	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.395A>T	p.Tyr132Phe	p.Y132F	ENST00000370989	4/6	237	122	115	224	224	0	strelka-varscan-mutect	GSTA5,missense_variant,p.Tyr132Phe,ENST00000370989,;GSTA5,missense_variant,p.Tyr132Phe,ENST00000284562,NM_153699.1;GSTA5,non_coding_transcript_exon_variant,,ENST00000475052,;	A	ENST00000370989	Transcript	missense_variant	425/892	395/669	132/222	Y/F	tAc/tTc		1		-1	GSTA5	HGNC	HGNC:19662	protein_coding	YES	CCDS4946.1	ENSP00000360028	Q7RTV2		UPI0000049038		tolerated(0.12)		4/6		Gene3D:1.20.1050.10,Pfam_domain:PF14497,PROSITE_profiles:PS50405,hmmpanther:PTHR11571,hmmpanther:PTHR11571:SF131,Superfamily_domains:SSF47616																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	52834160	52834160	T	A	1	0	0	0	0	1	0	0	0	6718	1638	57	4		4	GSTA5	6	52834160	Missense_Mutation	SNP	T	C3N-00560_TP	2010694	52834160	117971819	436	18375											
GSTA5	0	.	GRCh38	chr6	52836323	52836323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtctgcaccagcttcatcCcgtcaatctcaaccattggt	8	12	7	14	1	4	0	3	0	2	0	6	0	5	0	3	2	3	2	3	2	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.185G>T	p.Gly62Val	p.G62V	ENST00000370989	3/6	216	127	89	237	237	0	strelka-varscan-mutect	GSTA5,missense_variant,p.Gly62Val,ENST00000370989,;GSTA5,missense_variant,p.Gly62Val,ENST00000284562,NM_153699.1;GSTA5,intron_variant,,ENST00000475052,;	A	ENST00000370989	Transcript	missense_variant	215/892	185/669	62/222	G/V	gGg/gTg		1		-1	GSTA5	HGNC	HGNC:19662	protein_coding	YES	CCDS4946.1	ENSP00000360028	Q7RTV2		UPI0000049038		deleterious(0)		3/6		Gene3D:3.40.30.10,Pfam_domain:PF02798,PROSITE_profiles:PS50404,hmmpanther:PTHR11571,hmmpanther:PTHR11571:SF131,Superfamily_domains:SSF52833																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	52836323	52836323	C	A	1	0	0	0	0	1	0	0	0	6718	623	22	2		2	GSTA5	6	52836323	Missense_Mutation	SNP	C	C3N-00560_TP	2163	52836323	117969656	437	18376											
TINAG	0	.	GRCh38	chr6	54326889	54326889	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactttgccacctagtccCatgctcctgagcatgaatga	9	10	9	13	0	0	3	0	3	0	0	2	3	2	3	4	1	3	3	4	1	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.597C>A	p.=	p.P199P	ENST00000259782	4/11	141	57	84	159	159	0	strelka-varscan-mutect	TINAG,synonymous_variant,p.=,ENST00000259782,NM_014464.3;TINAG,synonymous_variant,p.=,ENST00000370869,;TINAG,synonymous_variant,p.=,ENST00000370864,;TINAG,downstream_gene_variant,,ENST00000486436,;	A	ENST00000259782	Transcript	synonymous_variant	693/1754	597/1431	199/476	P	ccC/ccA		1		1	TINAG	HGNC	HGNC:14599	protein_coding	YES	CCDS4955.1	ENSP00000259782	Q9UJW2		UPI000013D078	NM_014464.3			4/11		hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF274,Superfamily_domains:SSF54001																	LOW	1	SNV	1			1										PASS		rs1184886174	.												A	2	1	57	54326889	54326889	C	A	1	0	0	0	0	0	0	0	1	16362	581	21	2		2	TINAG	6	54326889	Silent	SNP	C	C3N-00560_TP	1490566	54326889	116479090	438	18377											
EYS	0	.	GRCh38	chr6	64388800	64388801	+	Frame_Shift_Ins	INS	-	-	T																															catatttgtgtattcctcccINStaaaatagtcagctcagcgt																								novel		C3N-00560_TP	C3N-00560_NB	-	-																c.5967dupA	p.Gly1990ArgfsTer56	p.G1990Rfs*56	ENST00000370621	29/44	148	69	79	172	172	0	sindel-varindel-pindel	EYS,frameshift_variant,p.Gly1990ArgfsTer56,ENST00000503581,NM_001142800.1;EYS,frameshift_variant,p.Gly1990ArgfsTer56,ENST00000370621,NM_001292009.1;RP11-349P19.1,intron_variant,,ENST00000424274,;	T	ENST00000370621	Transcript	frameshift_variant	6494-6495/10485	5967-5968/9498	1989-1990/3165	-/X	-/A		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1			29/44		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,SMART_domains:SM00282,Superfamily_domains:SSF49899																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	57	64388800	64388800	-	T	1	0	1	1	0	0	0	0	0	5200	681	24	0		0	EYS	6	64388800	Frame_Shift_Ins	INS	-	C3N-00560_TP	10061911	64388800	106417179	439	18378											
EYS	0	.	GRCh38	chr6	64591415	64591415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcgaggggctgagcaatctCcagtgctctcttcttgaaat	9	12	10	10	1	3	2	0	2	3	0	6	3	3	2	1	2	2	3	1	2	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.4452G>T	p.Trp1484Cys	p.W1484C	ENST00000370621	26/44	353	170	183	364	364	0	strelka-varscan-mutect	EYS,missense_variant,p.Trp1484Cys,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Trp1484Cys,ENST00000370621,NM_001292009.1;EYS,downstream_gene_variant,,ENST00000330816,;	A	ENST00000370621	Transcript	missense_variant	4979/10485	4452/9498	1484/3165	W/C	tgG/tgT		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	deleterious(0.05)		26/44																			MODERATE	1	SNV	1			1										PASS		rs1428994453	.												A	3	1	57	64591415	64591415	C	A	1	0	0	0	0	1	0	0	0	5200	856	30	2		2	EYS	6	64591415	Missense_Mutation	SNP	C	C3N-00560_TP	202615	64591415	106214564	440	18379											
ADGRB3	0	.	GRCh38	chr6	69327826	69327826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttcttgcaggtttacCagcattagtagtggccacat	8	15	9	9	0	1	0	0	0	1	0	1	0	1	0	2	2	4	5	2	2	3	7	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2972C>A	p.Pro991Gln	p.P991Q	ENST00000370598	22/32	134	61	73	150	149	1	strelka-varscan-mutect	ADGRB3,missense_variant,p.Pro991Gln,ENST00000370598,NM_001704.2;ADGRB3,missense_variant,p.Pro991Gln,ENST00000546190,;ADGRB3,missense_variant,p.Pro197Gln,ENST00000238918,;ADGRB3,downstream_gene_variant,,ENST00000603207,;	A	ENST00000370598	Transcript	missense_variant	3793/6010	2972/4569	991/1522	P/Q	cCa/cAa		1		1	ADGRB3	HGNC	HGNC:945	protein_coding	YES	CCDS4968.1	ENSP00000359630	O60242		UPI00001AE6A9	NM_001704.2	deleterious(0.02)		22/32		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF40,Pfam_domain:PF00002,Prints_domain:PR00249																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	69327826	69327826	C	A	1	0	0	0	0	1	0	0	0	357	594	21	2		2	ADGRB3	6	69327826	Missense_Mutation	SNP	C	C3N-00560_TP	4736411	69327826	101478153	441	18380											
RIMS1	0	.	GRCh38	chr6	72258229	72258229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcagtatctcctcatcgcGgcaatgatcagggaaagccg	10	9	11	11	3	4	1	3	1	1	0	6	2	4	2	2	2	1	3	2	2	3	2	rs763404266		C3N-00560_TP	C3N-00560_NB	G	G																c.2875G>T	p.Gly959Cys	p.G959C	ENST00000521978	17/34	154	68	86	162	162	0	strelka-varscan-mutect	RIMS1,missense_variant,p.Gly959Cys,ENST00000264839,;RIMS1,missense_variant,p.Gly959Cys,ENST00000521978,NM_014989.5;RIMS1,missense_variant,p.Gly959Cys,ENST00000491071,;RIMS1,missense_variant,p.Gly958Cys,ENST00000520567,;RIMS1,missense_variant,p.Gly958Cys,ENST00000517960,;RIMS1,missense_variant,p.Gly959Cys,ENST00000518273,;RIMS1,missense_variant,p.Gly958Cys,ENST00000522291,;RIMS1,missense_variant,p.Gly432Cys,ENST00000401910,NM_001168407.1;RIMS1,missense_variant,p.Gly533Cys,ENST00000517433,;RIMS1,missense_variant,p.Gly433Cys,ENST00000523963,NM_001168408.1;RIMS1,missense_variant,p.Gly418Cys,ENST00000517827,NM_001168410.1;RIMS1,missense_variant,p.Gly352Cys,ENST00000425662,NM_001168409.1;RIMS1,missense_variant,p.Gly352Cys,ENST00000453976,;RIMS1,missense_variant,p.Gly50Cys,ENST00000522211,;RIMS1,missense_variant,p.Gly184Cys,ENST00000370420,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;RIMS1,non_coding_transcript_exon_variant,,ENST00000524197,;RIMS1,upstream_gene_variant,,ENST00000463023,;	T	ENST00000521978	Transcript	missense_variant	2875/5079	2875/5079	959/1692	G/C	Ggc/Tgc	rs763404266	1		1	RIMS1	HGNC	HGNC:17282	protein_coding	YES	CCDS47449.1	ENSP00000428417	Q86UR5		UPI00001908FB	NM_014989.5	deleterious_low_confidence(0.03)		17/34		hmmpanther:PTHR12157:SF19,hmmpanther:PTHR12157																	MODERATE	1	SNV	1			1										PASS		rs763404266	.												T	3	4	57	72258229	72258229	G	T	1	0	0	0	0	1	0	0	0	13542	1116	39	1		1	RIMS1	6	72258229	Missense_Mutation	SNP	G	C3N-00560_TP	2930403	72258229	98547750	442	18381											
CD109	0	.	GRCh38	chr6	73809991	73809991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctcttgcaggtggcatGcaattctgggtgtcatcaga	7	15	11	8	0	4	1	2	0	2	1	5	1	4	1	0	3	2	3	0	3	1	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3363G>T	p.Met1121Ile	p.M1121I	ENST00000287097	27/33	250	116	134	254	254	0	strelka-varscan-mutect	CD109,missense_variant,p.Met1121Ile,ENST00000437994,NM_001159587.2;CD109,missense_variant,p.Met1044Ile,ENST00000422508,NM_001159588.2;CD109,missense_variant,p.Met1121Ile,ENST00000287097,NM_133493.4;	T	ENST00000287097	Transcript	missense_variant	3475/9130	3363/4338	1121/1445	M/I	atG/atT		1		1	CD109	HGNC	HGNC:21685	protein_coding	YES	CCDS4982.1	ENSP00000287097	Q6YHK3		UPI000013DE92	NM_133493.4	tolerated(0.32)		27/33		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF80,Gene3D:1.50.10.20,Pfam_domain:PF07678,Superfamily_domains:SSF48239																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	73809991	73809991	G	T	1	0	0	0	0	1	0	0	0	2666	1319	46	2		2	CD109	6	73809991	Missense_Mutation	SNP	G	C3N-00560_TP	1551762	73809991	96995988	443	18382											
CD109	0	.	GRCh38	chr6	73823486	73823486	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgagaagttacaactcTgaagtgaagctgtcctcctg	10	10	12	9	1	1	3	0	3	1	1	3	4	3	3	2	1	3	2	2	1	5	1	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.4191T>C	p.=	p.S1397S	ENST00000287097	33/33	98	44	54	98	98	0	strelka-varscan-mutect	CD109,synonymous_variant,p.=,ENST00000437994,NM_001159587.2;CD109,synonymous_variant,p.=,ENST00000422508,NM_001159588.2;CD109,synonymous_variant,p.=,ENST00000287097,NM_133493.4;	C	ENST00000287097	Transcript	synonymous_variant	4303/9130	4191/4338	1397/1445	S	tcT/tcC		1		1	CD109	HGNC	HGNC:21685	protein_coding	YES	CCDS4982.1	ENSP00000287097	Q6YHK3		UPI000013DE92	NM_133493.4			33/33		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF80,Gene3D:1ayoA00,Superfamily_domains:SSF49410																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	57	73823486	73823486	T	C	1	0	0	0	0	0	0	0	1	2666	1567	55	5		5	CD109	6	73823486	Silent	SNP	T	C3N-00560_TP	13495	73823486	96982493	444	18383											
COL12A1	0	.	GRCh38	chr6	75130851	75130851	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaggatttctgcctcaCgcgttcggccctgggcaggg	7	8	15	11	3	2	1	1	0	1	1	3	3	2	2	2	4	1	2	2	4	1	2			C3N-00560_TP	C3N-00560_NB	C	C																c.6067+1G>T		p.X2023_splice	ENST00000322507		135	51	84	118	117	1	strelka-varscan-mutect	COL12A1,splice_donor_variant,,ENST00000322507,NM_004370.5;COL12A1,splice_donor_variant,,ENST00000615798,;COL12A1,splice_donor_variant,,ENST00000483888,;COL12A1,splice_donor_variant,,ENST00000416123,;COL12A1,splice_donor_variant,,ENST00000345356,NM_080645.2;COL12A1,downstream_gene_variant,,ENST00000419671,;	A	ENST00000322507	Transcript	splice_donor_variant	-/11723	6067/9192	2023/3063			COSM3411283	1		-1	COL12A1	HGNC	HGNC:2188	protein_coding	YES	CCDS43482.1	ENSP00000325146	Q99715		UPI000045890B	NM_004370.5				36/65												1						HIGH	1	SNV	1		1	1										PASS		.	.												A	5	1	57	75130851	75130851	C	A	1	0	0	0	0	0	0	1	0	3457	550	19	1		1	COL12A1	6	75130851	Splice_Site	SNP	C	C3N-00560_TP	1307365	75130851	95675128	445	18384											
TBX18	0	.	GRCh38	chr6	84737368	84737368	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgagtggcaggaacgcCattcccagtaccttggagca	10	7	14	10	1	0	1	0	1	0	0	1	3	1	3	3	4	3	3	3	4	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1141G>C	p.Gly381Arg	p.G381R	ENST00000369663	8/8	21	8	13	36	36	0	strelka-mutect	TBX18,missense_variant,p.Gly381Arg,ENST00000369663,NM_001080508.2;TBX18,intron_variant,,ENST00000606784,;TBX18,downstream_gene_variant,,ENST00000606521,;TBX18,downstream_gene_variant,,ENST00000607343,;	G	ENST00000369663	Transcript	missense_variant	1479/6245	1141/1824	381/607	G/R	Ggc/Cgc		1		-1	TBX18	HGNC	HGNC:11595	protein_coding	YES	CCDS34495.1	ENSP00000358677	O95935		UPI00001A3A8A	NM_001080508.2	deleterious(0.01)		8/8		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	84737368	84737368	C	G	1	0	0	0	0	1	0	0	0	16058	594	21	4		4	TBX18	6	84737368	Missense_Mutation	SNP	C	C3N-00560_TP	9606517	84737368	86068611	446	18385											
ZNF292	0	.	GRCh38	chr6	87260956	87260956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaacgtctgagcaagaaGgtgctaagaatgatgtgaaa	17	7	13	4	1	1	5	0	3	1	2	1	6	1	6	0	2	3	2	0	2	6	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.7327G>T	p.Gly2443Cys	p.G2443C	ENST00000369577	8/8	138	73	65	207	206	1	strelka-varscan-mutect	ZNF292,missense_variant,p.Gly2443Cys,ENST00000369577,NM_015021.1;ZNF292,missense_variant,p.Gly2438Cys,ENST00000339907,;ZNF292,downstream_gene_variant,,ENST00000496806,;	T	ENST00000369577	Transcript	missense_variant	7370/10610	7327/8172	2443/2723	G/C	Ggt/Tgt		1		1	ZNF292	HGNC	HGNC:18410	protein_coding	YES	CCDS47457.1	ENSP00000358590	O60281		UPI000020D2CC	NM_015021.1	deleterious(0.05)		8/8		hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	87260956	87260956	G	T	1	0	0	0	0	1	0	0	0	18402	1000	35	2		2	ZNF292	6	87260956	Missense_Mutation	SNP	G	C3N-00560_TP	2523588	87260956	83545023	447	18386											
CNR1	0	.	GRCh38	chr6	88144114	88144114	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggttcacggtggagttcagCaggcagagcatactgcagaa	11	7	15	8	1	2	2	2	0	0	2	2	3	2	3	0	4	4	6	0	4	2	3			C3N-00560_TP	C3N-00560_NB	C	C																c.1161G>T	p.=	p.L387L	ENST00000369501	2/2	246	110	136	253	253	0	strelka-varscan-mutect	CNR1,synonymous_variant,p.=,ENST00000369501,NM_016083.4,NM_001160226.1,NM_001160258.1,NM_001160259.1;CNR1,synonymous_variant,p.=,ENST00000369499,;CNR1,synonymous_variant,p.=,ENST00000549890,;CNR1,synonymous_variant,p.=,ENST00000428600,;CNR1,synonymous_variant,p.=,ENST00000468898,NM_033181.3;CNR1,3_prime_UTR_variant,,ENST00000362094,;CNR1,downstream_gene_variant,,ENST00000551417,;	A	ENST00000369501	Transcript	synonymous_variant	1781/6031	1161/1419	387/472	L	ctG/ctT	COSM743917	1		-1	CNR1	HGNC	HGNC:2159	protein_coding	YES	CCDS5015.1	ENSP00000358513	P21554	S5TLS4	UPI00000008AA	NM_016083.4,NM_001160226.1,NM_001160258.1,NM_001160259.1			2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF47,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,PIRSF_domain:PIRSF037995,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	57	88144114	88144114	C	A	1	0	0	0	0	0	0	0	1	3413	697	25	2		2	CNR1	6	88144114	Silent	SNP	C	C3N-00560_TP	883158	88144114	82661865	448	18387											
BEND3	0	.	GRCh38	chr6	107069868	107069868	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgctgcgggtccagctcCtgctttccaccgtccccgta	4	9	10	18	4	0	0	0	0	0	0	4	0	4	0	7	1	4	4	7	1	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1323G>C	p.Gln441His	p.Q441H	ENST00000429433	5/5	183	130	53	198	198	0	strelka-varscan-mutect	BEND3,missense_variant,p.Gln441His,ENST00000429433,NM_001080450.2;BEND3,missense_variant,p.Gln441His,ENST00000369042,;	G	ENST00000429433	Transcript	missense_variant	1973/6654	1323/2487	441/828	Q/H	caG/caC		1		-1	BEND3	HGNC	HGNC:23040	protein_coding	YES	CCDS34507.1	ENSP00000411268	Q5T5X7		UPI00001D80D7	NM_001080450.2	tolerated(0.66)		5/5		Pfam_domain:PF10523,PROSITE_profiles:PS51457,hmmpanther:PTHR28665,SMART_domains:SM01025																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	107069868	107069868	C	G	1	0	0	0	0	1	0	0	0	1547	680	24	4		4	BEND3	6	107069868	Missense_Mutation	SNP	C	C3N-00560_TP	18925754	107069868	63736111	449	18388											
SOBP	0	.	GRCh38	chr6	107634057	107634057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatggagcagcagatcatgCagcagatccgcccgcccttc	9	7	10	15	2	2	2	2	0	0	2	4	3	3	3	3	1	4	4	3	1	0	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1213C>A	p.Gln405Lys	p.Q405K	ENST00000317357	6/7	80	41	39	97	97	0	strelka-varscan-mutect	SOBP,missense_variant,p.Gln405Lys,ENST00000317357,NM_018013.3;SOBP,upstream_gene_variant,,ENST00000494935,;	A	ENST00000317357	Transcript	missense_variant	1872/5245	1213/2622	405/873	Q/K	Cag/Aag		1		1	SOBP	HGNC	HGNC:29256	protein_coding	YES	CCDS43488.1	ENSP00000318900	A7XYQ1		UPI0000E6A8ED	NM_018013.3	deleterious(0.02)		6/7		hmmpanther:PTHR23186:SF2,hmmpanther:PTHR23186,Pfam_domain:PF15279																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	107634057	107634057	C	A	1	0	0	0	0	1	0	0	0	15233	711	25	2		2	SOBP	6	107634057	Missense_Mutation	SNP	C	C3N-00560_TP	564189	107634057	63171922	450	18389											
LAMA4	0	.	GRCh38	chr6	112120439	112120439	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaagatcatgccatgggaGgaacgagttctcagacgaat	14	8	12	7	2	2	3	2	0	1	3	3	7	2	5	1	2	2	1	1	2	4	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4509C>A	p.=	p.S1503S	ENST00000230538	33/39	182	90	92	238	238	0	strelka-varscan-mutect	LAMA4,synonymous_variant,p.=,ENST00000230538,NM_001105206.2;LAMA4,synonymous_variant,p.=,ENST00000522006,NM_001105207.2,NM_002290.4;LAMA4,synonymous_variant,p.=,ENST00000389463,;LAMA4,synonymous_variant,p.=,ENST00000424408,;LAMA4,downstream_gene_variant,,ENST00000604740,;LAMA4,downstream_gene_variant,,ENST00000521693,;	T	ENST00000230538	Transcript	synonymous_variant	4907/6547	4509/5472	1503/1823	S	tcC/tcA		1		-1	LAMA4	HGNC	HGNC:6484	protein_coding	YES	CCDS43491.1	ENSP00000230538		A0A0A0MQS9	UPI000153D541	NM_001105206.2			33/39		PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF277,Gene3D:2.60.120.200,Pfam_domain:PF00054,SMART_domains:SM00282,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	112120439	112120439	G	T	1	0	0	0	0	0	0	0	1	8512	987	35	2		2	LAMA4	6	112120439	Silent	SNP	G	C3N-00560_TP	4486382	112120439	58685540	451	18390											
RFPL4B	0	.	GRCh38	chr6	112350476	112350476	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagaaggggagagtggCaacgtcctgaccatctgccc	9	7	15	10	1	1	3	0	1	1	2	2	5	2	3	3	4	2	1	3	4	2	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.768C>A	p.=	p.G256G	ENST00000441065	3/3	54	28	26	59	59	0	strelka-varscan-mutect	RFPL4B,synonymous_variant,p.=,ENST00000441065,NM_001013734.2;RP11-506B6.7,downstream_gene_variant,,ENST00000585611,;RP11-506B6.7,downstream_gene_variant,,ENST00000587816,;RP11-506B6.7,downstream_gene_variant,,ENST00000590673,;	A	ENST00000441065	Transcript	synonymous_variant	1080/1900	768/792	256/263	G	ggC/ggA		1		1	RFPL4B	HGNC	HGNC:33264	protein_coding	YES	CCDS34515.1	ENSP00000423391	Q6ZWI9		UPI00001972F0	NM_001013734.2			3/3		PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF223,Superfamily_domains:SSF49899																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	57	112350476	112350476	C	A	1	0	0	0	0	0	0	0	1	13430	697	25	2		2	RFPL4B	6	112350476	Silent	SNP	C	C3N-00560_TP	230037	112350476	58455503	452	18391											
KPNA5	0	.	GRCh38	chr6	116725876	116725876	+	Missense_Mutation	SNP	G	G	T																															ggaaatagagctcagattcaGgtaactacccttcagatctg																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1125G>T	p.Gln375His	p.Q375H	ENST00000368564	11/14	65	33	32	82	82	0	strelka-varscan-mutect	KPNA5,missense_variant,p.Gln375His,ENST00000368564,;KPNA5,missense_variant,p.Gln375His,ENST00000356348,NM_002269.2;	T	ENST00000368564	Transcript	missense_variant,splice_region_variant	1273/11311	1125/1620	375/539	Q/H	caG/caT		1		1	KPNA5	HGNC	HGNC:6398	protein_coding	YES	CCDS5111.1	ENSP00000357552	O15131		UPI000000DBE6		deleterious(0)		11/14		Gene3D:1.25.10.10,Pfam_domain:PF00514,PIRSF_domain:PIRSF005673,hmmpanther:PTHR23316,hmmpanther:PTHR23316:SF10,SMART_domains:SM00185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	116725876	116725876	G	T	1	0	0	0	0	1	0	0	0	8313	1014	35	2		2	KPNA5	6	116725876	Missense_Mutation	SNP	G	C3N-00560_TP	4375400	116725876	54080103	453	18392	391	2									
KPNA5	0	.	GRCh38	chr6	116725877	116725877	+	Splice_Site	SNP	G	G	T																															gaaatagagctcagattcagGtaactacccttcagatctga																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1125+1G>T		p.X375_splice	ENST00000368564		63	32	31	85	85	0	strelka-varscan-mutect	KPNA5,splice_donor_variant,,ENST00000368564,;KPNA5,splice_donor_variant,,ENST00000356348,NM_002269.2;	T	ENST00000368564	Transcript	splice_donor_variant	-/11311	1125/1620	375/539				1		1	KPNA5	HGNC	HGNC:6398	protein_coding	YES	CCDS5111.1	ENSP00000357552	O15131		UPI000000DBE6					11/13																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	57	116725877	116725877	G	T	1	0	0	0	0	0	0	1	0	8313	1275	44	2		2	KPNA5	6	116725877	Splice_Site	SNP	G	C3N-00560_TP	1	116725877	54080102	454	18393	391	2									
GPRC6A	0	.	GRCh38	chr6	116792487	116792487	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatgacaataatctccacAgctggtacatatttgccaaa	16	11	5	9	0	1	1	0	1	1	0	2	1	1	1	2	1	3	2	2	1	7	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.2436T>A	p.=	p.A812A	ENST00000310357	6/6	108	48	60	164	164	0	strelka-varscan-mutect	GPRC6A,synonymous_variant,p.=,ENST00000310357,NM_148963.3;GPRC6A,synonymous_variant,p.=,ENST00000368549,NM_001286355.1;GPRC6A,synonymous_variant,p.=,ENST00000530250,NM_001286354.1;	T	ENST00000310357	Transcript	synonymous_variant	2458/2860	2436/2781	812/926	A	gcT/gcA		1		-1	GPRC6A	HGNC	HGNC:18510	protein_coding	YES	CCDS5112.1	ENSP00000309493	Q5T6X5		UPI000013EFF9	NM_148963.3			6/6		PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF5,Pfam_domain:PF00003																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	116792487	116792487	A	T	1	0	0	0	0	0	0	0	1	6607	175	7	4		4	GPRC6A	6	116792487	Silent	SNP	A	C3N-00560_TP	66610	116792487	54013492	455	18394											
GPRC6A	0	.	GRCh38	chr6	116806879	116806879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggaattgcctcagaaataCcacaatgacattaacctggg	15	9	8	9	0	1	2	1	1	0	1	1	3	1	3	3	2	3	0	3	2	5	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.826G>T	p.Val276Leu	p.V276L	ENST00000310357	3/6	150	73	77	184	184	0	strelka-varscan-mutect	GPRC6A,missense_variant,p.Val276Leu,ENST00000310357,NM_148963.3;GPRC6A,missense_variant,p.Val276Leu,ENST00000368549,NM_001286355.1;GPRC6A,intron_variant,,ENST00000530250,NM_001286354.1;	A	ENST00000310357	Transcript	missense_variant	848/2860	826/2781	276/926	V/L	Gta/Tta		1		-1	GPRC6A	HGNC	HGNC:18510	protein_coding	YES	CCDS5112.1	ENSP00000309493	Q5T6X5		UPI000013EFF9	NM_148963.3	tolerated(0.18)		3/6		hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF5,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	116806879	116806879	C	A	1	0	0	0	0	1	0	0	0	6607	507	18	2		2	GPRC6A	6	116806879	Missense_Mutation	SNP	C	C3N-00560_TP	14392	116806879	53999100	456	18395											
NUS1	0	.	GRCh38	chr6	117694169	117694169	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttggatgtagatacgttagCcagtttacttagtaagtttt	10	18	9	4	1	0	1	0	0	0	1	0	2	0	2	1	1	3	5	1	1	6	10	rs76776814		C3N-00560_TP	C3N-00560_NB	C	C																c.680C>G	p.Ala227Gly	p.A227G	ENST00000368494	3/5	135	127	8	141	140	1	varscan-mutect	NUS1,missense_variant,p.Ala227Gly,ENST00000368494,NM_138459.3;	G	ENST00000368494	Transcript	missense_variant	849/4676	680/882	227/293	A/G	gCc/gGc	rs76776814,COSM4006109	1		1	NUS1	HGNC	HGNC:21042	protein_coding	YES	CCDS5118.1	ENSP00000357480	Q96E22		UPI000006FECA	NM_138459.3	tolerated(0.07)		3/5		Gene3D:1uehA00,Pfam_domain:PF01255,hmmpanther:PTHR21528,hmmpanther:PTHR21528:SF0,Superfamily_domains:SSF64005											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs76776814	.												G	3	3	57	117694169	117694169	C	G	1	0	0	0	0	1	0	0	0	10843	739	26	4		4	NUS1	6	117694169	Missense_Mutation	SNP	C	C3N-00560_TP	887290	117694169	53111810	457	18396											
LAMA2	0	.	GRCh38	chr6	129291634	129291634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcgctgtaatgccggtGgctctttctctgaggtttgc	3	15	12	11	2	2	1	0	1	2	0	4	1	2	1	2	3	2	4	2	3	1	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2770G>T	p.Gly924Cys	p.G924C	ENST00000421865	20/65	414	200	214	451	451	0	strelka-varscan-mutect	LAMA2,missense_variant,p.Gly924Cys,ENST00000618192,;LAMA2,missense_variant,p.Gly924Cys,ENST00000617695,;LAMA2,missense_variant,p.Gly924Cys,ENST00000421865,NM_001079823.1,NM_000426.3;	T	ENST00000421865	Transcript	missense_variant	2819/9640	2770/9369	924/3122	G/C	Ggc/Tgc		1		1	LAMA2	HGNC	HGNC:6482	protein_coding	YES	CCDS5138.1	ENSP00000400365	P24043		UPI00003673E0	NM_001079823.1,NM_000426.3	deleterious(0)		20/65		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF291,SMART_domains:SM00180,Superfamily_domains:SSF57196																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	129291634	129291634	G	T	1	0	0	0	0	1	0	0	0	8510	1348	47	2		2	LAMA2	6	129291634	Missense_Mutation	SNP	G	C3N-00560_TP	11597465	129291634	41514345	458	18397											
ENPP1	0	.	GRCh38	chr6	131879935	131879935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacctagagttctccagaaGgaaaacaccatctgtcttct	13	10	7	11	0	4	3	0	0	4	3	5	4	4	4	3	1	1	1	3	1	4	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2001G>T	p.Lys667Asn	p.K667N	ENST00000360971	20/25	217	108	109	274	273	1	strelka-varscan-mutect	ENPP1,missense_variant,p.Lys667Asn,ENST00000360971,NM_006208.2;ENPP1,3_prime_UTR_variant,,ENST00000513998,;ENPP1,downstream_gene_variant,,ENST00000459624,;	T	ENST00000360971	Transcript	missense_variant	2021/7442	2001/2778	667/925	K/N	aaG/aaT		1		1	ENPP1	HGNC	HGNC:3356	protein_coding	YES	CCDS5150.2	ENSP00000354238	P22413		UPI00001303F0	NM_006208.2	tolerated(0.2)		20/25		Gene3D:1g8tA00,hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF77																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	131879935	131879935	G	T	1	0	0	0	0	1	0	0	0	4974	991	35	2		2	ENPP1	6	131879935	Missense_Mutation	SNP	G	C3N-00560_TP	2588301	131879935	38926044	459	18398											
MOXD1	0	.	GRCh38	chr6	132374755	132374755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatcttttttcaactctCtatttgcatttgtaaaataa	12	18	4	7	0	3	0	1	0	2	0	4	1	3	0	0	0	3	3	0	0	5	8	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.287G>T	p.Arg96Ile	p.R96I	ENST00000367963	2/12	131	64	67	278	277	1	strelka-varscan-mutect	MOXD1,missense_variant,p.Arg96Ile,ENST00000367963,NM_015529.3;MOXD1,missense_variant,p.Arg28Ile,ENST00000336749,;	A	ENST00000367963	Transcript	missense_variant	406/3059	287/1842	96/613	R/I	aGa/aTa		1		-1	MOXD1	HGNC	HGNC:21063	protein_coding	YES	CCDS5152.2	ENSP00000356940	Q6UVY6		UPI000003F04F	NM_015529.3	tolerated(0.11)		2/12		PROSITE_profiles:PS50836,hmmpanther:PTHR10157,hmmpanther:PTHR10157:SF28,Pfam_domain:PF03351,SMART_domains:SM00664																	MODERATE	1	SNV	1			1										PASS		rs1275504589	.												A	3	1	57	132374755	132374755	C	A	1	0	0	0	0	1	0	0	0	9682	913	32	2		2	MOXD1	6	132374755	Missense_Mutation	SNP	C	C3N-00560_TP	494820	132374755	38431224	460	18399											
TXLNB	0	.	GRCh38	chr6	139288648	139288648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctcaggctgctcactggcCctggcagagccctctttccc	4	11	9	17	0	3	1	2	0	2	1	5	1	4	1	3	3	2	3	3	3	0	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.252G>T	p.Arg84Ser	p.R84S	ENST00000358430	2/10	332	136	196	355	355	0	strelka-varscan-mutect	TXLNB,missense_variant,p.Arg84Ser,ENST00000358430,NM_153235.3;RP11-445F6.2,downstream_gene_variant,,ENST00000441249,;RP11-445F6.2,downstream_gene_variant,,ENST00000440518,;	A	ENST00000358430	Transcript	missense_variant	485/4753	252/2055	84/684	R/S	agG/agT		1		-1	TXLNB	HGNC	HGNC:21617	protein_coding	YES	CCDS34545.1	ENSP00000351206	Q8N3L3		UPI0000072983	NM_153235.3	tolerated(0.33)		2/10		hmmpanther:PTHR16127,hmmpanther:PTHR16127:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	139288648	139288648	C	A	1	0	0	0	0	1	0	0	0	17304	622	22	2		2	TXLNB	6	139288648	Missense_Mutation	SNP	C	C3N-00560_TP	6913893	139288648	31517331	461	18400											
GRM1	0	.	GRCh38	chr6	146029790	146029790	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgttggataagatcaacgcGgacccggtcctcctgcccaa	10	7	10	14	4	1	1	1	0	0	1	3	3	3	3	4	3	2	1	4	3	3	2	rs771323107		C3N-00560_TP	C3N-00560_NB	G	G																c.273G>T	p.=	p.A91A	ENST00000361719	2/9	354	164	190	417	417	0	strelka-varscan-mutect	GRM1,synonymous_variant,p.=,ENST00000492807,NM_001278065.1,NM_001278066.1;GRM1,synonymous_variant,p.=,ENST00000361719,;GRM1,synonymous_variant,p.=,ENST00000282753,NM_001278064.1;GRM1,synonymous_variant,p.=,ENST00000355289,NM_001278067.1;GRM1,synonymous_variant,p.=,ENST00000507907,;GRM1,non_coding_transcript_exon_variant,,ENST00000502405,;GRM1,non_coding_transcript_exon_variant,,ENST00000507005,;	T	ENST00000361719	Transcript	synonymous_variant	640/6754	273/3585	91/1194	A	gcG/gcT	rs771323107	1		1	GRM1	HGNC	HGNC:4593	protein_coding	YES	CCDS5209.1	ENSP00000354896	Q13255		UPI000013DCFD				2/9		hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF29,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR00248																	LOW	1	SNV	5			1										PASS		rs771323107	.												T	2	4	57	146029790	146029790	G	T	1	0	0	0	0	0	0	0	1	6678	1103	39	1		1	GRM1	6	146029790	Silent	SNP	G	C3N-00560_TP	6741142	146029790	24776189	462	18401											
ADGB	0	.	GRCh38	chr6	146784677	146784677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctactggattttgaggttGgtcactgaacacaatgaatc	11	12	9	9	0	1	3	1	3	0	0	2	4	1	4	1	3	2	1	1	3	4	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4095G>C	p.Leu1365Phe	p.L1365F	ENST00000397944	31/36	99	53	46	120	120	0	strelka-varscan-mutect	ADGB,missense_variant,p.Leu1365Phe,ENST00000397944,NM_024694.3;ADGB,missense_variant,p.Leu323Phe,ENST00000367490,;ADGB,missense_variant,p.Leu88Phe,ENST00000326916,;ADGB,intron_variant,,ENST00000470716,;ADGB,splice_region_variant,,ENST00000523560,;ADGB,splice_region_variant,,ENST00000480328,;ADGB,3_prime_UTR_variant,,ENST00000493950,;	C	ENST00000397944	Transcript	missense_variant	4171/5325	4095/5004	1365/1667	L/F	ttG/ttC		1		1	ADGB	HGNC	HGNC:21212	protein_coding	YES		ENSP00000381036	Q8N7X0		UPI000020E382	NM_024694.3	deleterious(0.02)		31/36																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	57	146784677	146784677	G	C	1	0	0	0	0	1	0	0	0	351	1339	47	4		4	ADGB	6	146784677	Missense_Mutation	SNP	G	C3N-00560_TP	754887	146784677	24021302	463	18402											
AKAP12	0	.	GRCh38	chr6	151350265	151350265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagaagcgtgttagacGgccttcggaaagtgataaag	13	7	13	8	3	0	3	0	1	0	2	1	4	0	4	2	2	1	1	2	2	6	3	rs774124521		C3N-00560_TP	C3N-00560_NB	G	G																c.1874G>C	p.Arg625Pro	p.R625P	ENST00000402676	4/5	222	113	109	238	238	0	strelka-varscan-mutect	AKAP12,missense_variant,p.Arg625Pro,ENST00000402676,NM_005100.3;AKAP12,missense_variant,p.Arg625Pro,ENST00000253332,;AKAP12,missense_variant,p.Arg527Pro,ENST00000354675,NM_144497.2;AKAP12,missense_variant,p.Arg520Pro,ENST00000359755,;AKAP12,downstream_gene_variant,,ENST00000490177,;	C	ENST00000402676	Transcript	missense_variant	2114/8432	1874/5349	625/1782	R/P	cGg/cCg	rs774124521,COSM1074563	1		1	AKAP12	HGNC	HGNC:370	protein_coding	YES	CCDS5229.1	ENSP00000384537	Q02952		UPI000013CDC7	NM_005100.3	deleterious(0)		4/5		hmmpanther:PTHR23209,Pfam_domain:PF03832											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs774124521	.												C	3	2	57	151350265	151350265	G	C	1	0	0	0	0	1	0	0	0	531	1116	39	4		4	AKAP12	6	151350265	Missense_Mutation	SNP	G	C3N-00560_TP	4565588	151350265	19455714	464	18403											
CCDC170	0	.	GRCh38	chr6	151596403	151596403	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctccggcagaaaatagcCcagctggaggaggagaagca	13	4	13	11	1	0	2	0	0	0	2	2	5	2	4	3	4	3	3	3	4	4	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1536C>A	p.=	p.A512A	ENST00000239374	9/11	278	114	164	304	302	2	strelka-varscan-mutect	CCDC170,synonymous_variant,p.=,ENST00000239374,NM_025059.3;CCDC170,non_coding_transcript_exon_variant,,ENST00000537358,;	A	ENST00000239374	Transcript	synonymous_variant	1635/5293	1536/2148	512/715	A	gcC/gcA		1		1	CCDC170	HGNC	HGNC:21177	protein_coding	YES	CCDS43515.1	ENSP00000239374	Q8IYT3		UPI000020D0BA	NM_025059.3			9/11		hmmpanther:PTHR18863:SF4,hmmpanther:PTHR18863,Coiled-coils_(Ncoils):Coil																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	151596403	151596403	C	A	1	0	0	0	0	0	0	0	1	2487	610	22	2		2	CCDC170	6	151596403	Silent	SNP	C	C3N-00560_TP	246138	151596403	19209576	465	18404											
SYNE1	0	.	GRCh38	chr6	152149595	152149595	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccaagggctcactctttTctatcagctgttctccttgg	6	15	7	13	0	5	0	2	0	3	0	7	0	6	0	2	2	1	3	2	2	2	5	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.24524A>T	p.Glu8175Val	p.E8175V	ENST00000367255	136/146	266	131	135	286	286	0	strelka-varscan-mutect	SYNE1,missense_variant,p.Glu8175Val,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Glu8104Val,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Glu7770Val,ENST00000341594,;SYNE1,missense_variant,p.Glu1097Val,ENST00000367251,;SYNE1,missense_variant,p.Glu821Val,ENST00000367257,;SYNE1,missense_variant,p.Glu330Val,ENST00000539504,;SYNE1,missense_variant,p.Glu330Val,ENST00000354674,;SYNE1,non_coding_transcript_exon_variant,,ENST00000347037,;SYNE1,non_coding_transcript_exon_variant,,ENST00000460912,;SYNE1,non_coding_transcript_exon_variant,,ENST00000536990,;SYNE1,downstream_gene_variant,,ENST00000476519,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;SYNE1,upstream_gene_variant,,ENST00000478916,;SYNE1,downstream_gene_variant,,ENST00000490866,;SYNE1,upstream_gene_variant,,ENST00000472563,;	A	ENST00000367255	Transcript	missense_variant	25126/27748	24524/26394	8175/8797	E/V	gAa/gTa		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			136/146		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	152149595	152149595	T	A	1	0	0	0	0	1	0	0	0	15837	1783	62	4		4	SYNE1	6	152149595	Missense_Mutation	SNP	T	C3N-00560_TP	553192	152149595	18656384	466	18405											
PLG	0	.	GRCh38	chr6	160731806	160731806	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccactgttactgggacGccatgccaggactgggctgc	7	7	14	13	2	0	0	0	0	0	0	0	3	0	2	3	3	3	2	3	3	1	1	rs775623839		C3N-00560_TP	C3N-00560_NB	G	G																c.1500G>A	p.=	p.T500T	ENST00000308192	12/19	423	198	225	395	394	1	strelka-varscan-mutect	PLG,synonymous_variant,p.=,ENST00000308192,NM_000301.3;PLG,downstream_gene_variant,,ENST00000297289,;PLG,non_coding_transcript_exon_variant,,ENST00000493435,;	A	ENST00000308192	Transcript	synonymous_variant	1563/2741	1500/2433	500/810	T	acG/acA	rs775623839,COSM4978081	1		1	PLG	HGNC	HGNC:9071	protein_coding	YES	CCDS5279.1	ENSP00000308938	P00747		UPI000000D8B8	NM_000301.3			12/19		Gene3D:2.40.20.10,Pfam_domain:PF00051,PIRSF_domain:PIRSF001150,PROSITE_profiles:PS50070,hmmpanther:PTHR24261,hmmpanther:PTHR24261:SF2,SMART_domains:SM00130,Superfamily_domains:SSF57440											0,1						LOW	1	SNV	1		0,1	1										PASS		rs775623839	.												A	2	1	57	160731806	160731806	G	A	1	0	0	0	0	0	0	0	1	12181	1074	38	1		1	PLG	6	160731806	Silent	SNP	G	C3N-00560_TP	8582211	160731806	10074173	467	18406											
DACT2	0	.	GRCh38	chr6	168319589	168319589	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacctcgcgcccaacctacgGcggtcccagcccgcggaccc	7	3	10	21	6	0	0	0	0	0	0	2	1	1	1	6	3	4	0	6	3	3	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.45C>A	p.=	p.R15R	ENST00000366795	1/4	45	17	28	33	33	0	strelka-varscan-mutect	DACT2,synonymous_variant,p.=,ENST00000366795,NM_214462.4;DACT2,synonymous_variant,p.=,ENST00000366796,NM_001286351.1;DACT2,5_prime_UTR_variant,,ENST00000607983,;DACT2,intron_variant,,ENST00000610183,NM_001286350.1;	T	ENST00000366795	Transcript	synonymous_variant	134/2942	45/2325	15/774	R	cgC/cgA		1		-1	DACT2	HGNC	HGNC:21231	protein_coding	YES	CCDS47519.1	ENSP00000355760	Q5SW24		UPI00001D8145	NM_214462.4			1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR15919:SF13,hmmpanther:PTHR15919																	LOW	1	SNV	2			1										PASS		rs1254053062	.												T	2	4	57	168319589	168319589	G	T	1	0	0	0	0	0	0	0	1	4024	1190	42	2		2	DACT2	6	168319589	Silent	SNP	G	C3N-00560_TP	7587783	168319589	2486390	468	18407											
THBS2	0	.	GRCh38	chr6	169223333	169223333	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttgggatcaatttgggtGgtccctttgggatccaaggg	7	12	15	7	0	1	0	1	0	0	0	3	2	3	2	2	5	0	1	2	5	2	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2916C>G	p.=	p.T972T	ENST00000366787	19/23	233	108	125	256	256	0	strelka-varscan-mutect	THBS2,synonymous_variant,p.=,ENST00000366787,NM_003247.3;THBS2,synonymous_variant,p.=,ENST00000617924,;XXyac-YX65C7_A.2,intron_variant,,ENST00000444188,;THBS2,non_coding_transcript_exon_variant,,ENST00000488355,;	C	ENST00000366787	Transcript	synonymous_variant	3166/5811	2916/3519	972/1172	T	acC/acG		1		-1	THBS2	HGNC	HGNC:11786	protein_coding	YES	CCDS34574.1	ENSP00000355751	P35442		UPI0000231C7F	NM_003247.3			19/23		PROSITE_profiles:PS51236,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF10,Gene3D:2.60.120.200,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	57	169223333	169223333	G	C	1	0	0	0	0	0	0	0	1	16287	1335	47	4		4	THBS2	6	169223333	Silent	SNP	G	C3N-00560_TP	903744	169223333	1582646	469	18408											
FAM120B	0	.	GRCh38	chr6	170318927	170318927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagttcccatatgtacaGatcctatatccaagcaagaa	16	9	7	9	0	0	2	0	0	0	2	3	3	3	3	3	1	2	3	3	1	8	5	rs766907261		C3N-00560_TP	C3N-00560_NB	G	G																c.1606G>T	p.Asp536Tyr	p.D536Y	ENST00000537664	2/11	179	76	103	190	190	0	strelka-varscan-mutect	FAM120B,missense_variant,p.Asp513Tyr,ENST00000476287,NM_032448.2;FAM120B,missense_variant,p.Asp525Tyr,ENST00000630384,NM_001286379.1;FAM120B,missense_variant,p.Asp536Tyr,ENST00000537664,NM_001286380.1;FAM120B,intron_variant,,ENST00000625626,NM_001286381.1;	T	ENST00000537664	Transcript	missense_variant	1691/3212	1606/2802	536/933	D/Y	Gat/Tat	rs766907261	1		1	FAM120B	HGNC	HGNC:21109	protein_coding	YES	CCDS75555.1	ENSP00000440125		F5GY05	UPI00020654A4	NM_001286380.1	tolerated_low_confidence(0.17)		2/11		hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF17																	MODERATE	1	SNV	2			1										PASS		rs766907261	.												T	3	4	57	170318927	170318927	G	T	1	0	0	0	0	1	0	0	0	5274	942	33	2		2	FAM120B	6	170318927	Missense_Mutation	SNP	G	C3N-00560_TP	1095594	170318927	487052	470	18409											
PRKAR1B	0	.	GRCh38	chr7	680685	680685	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatgggagtccgactgTgagtttgacttttgccgcgc	6	13	12	10	3	2	2	2	2	0	0	3	4	3	3	2	1	1	1	2	1	0	3	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.219A>G	p.=	p.S73S	ENST00000406797	3/11	271	183	88	213	213	0	strelka-varscan-mutect	PRKAR1B,synonymous_variant,p.=,ENST00000406797,NM_001164761.1;PRKAR1B,synonymous_variant,p.=,ENST00000537384,NM_001164760.1;PRKAR1B,synonymous_variant,p.=,ENST00000544935,NM_001164759.1,NM_001164762.1;PRKAR1B,synonymous_variant,p.=,ENST00000360274,NM_002735.2;PRKAR1B,synonymous_variant,p.=,ENST00000403562,NM_001164758.1;PRKAR1B,synonymous_variant,p.=,ENST00000430040,;PRKAR1B,synonymous_variant,p.=,ENST00000414568,;PRKAR1B,synonymous_variant,p.=,ENST00000417852,;PRKAR1B,synonymous_variant,p.=,ENST00000456696,;	C	ENST00000406797	Transcript	synonymous_variant	394/2553	219/1146	73/381	S	tcA/tcG		1		-1	PRKAR1B	HGNC	HGNC:9390	protein_coding	YES	CCDS34579.1	ENSP00000385749	P31321		UPI000021C478	NM_001164761.1			3/11		PIRSF_domain:PIRSF000548,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF126																	LOW	1	SNV	1			1										PASS		rs1214785921	.												C	2	2	57	680685	680685	T	C	1	0	0	0	0	0	0	0	1	12637	1683	59	5		5	PRKAR1B	7	680685	Silent	SNP	T	C3N-00560_TP		680685	158665288	471	18410											
CYP2W1	0	.	GRCh38	chr7	984442	984442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacgggccggtgttcaccGtgcacctggggcgccagaag	6	6	16	13	4	1	1	1	0	0	1	1	1	1	1	4	4	2	3	4	4	2	2	rs535558848		C3N-00560_TP	C3N-00560_NB	G	G																c.205G>T	p.Val69Leu	p.V69L	ENST00000308919	2/9	267	184	83	256	256	0	strelka-varscan-mutect	CYP2W1,missense_variant,p.Val13Leu,ENST00000340150,;CYP2W1,missense_variant,p.Val69Leu,ENST00000308919,NM_017781.2;CYP2W1,upstream_gene_variant,,ENST00000415893,;CYP2W1,upstream_gene_variant,,ENST00000462453,;CYP2W1,upstream_gene_variant,,ENST00000468456,;	T	ENST00000308919	Transcript	missense_variant	218/2304	205/1473	69/490	V/L	Gtg/Ttg	rs535558848	1		1	CYP2W1	HGNC	HGNC:20243	protein_coding	YES	CCDS5319.2	ENSP00000310149	Q8TAV3		UPI000013C59A	NM_017781.2	tolerated(0.2)		2/9		hmmpanther:PTHR24300:SF183,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463																	MODERATE	1	SNV	1			1										PASS		rs535558848	.												T	3	4	57	984442	984442	G	T	1	0	0	0	0	1	0	0	0	3979	1145	40	1		1	CYP2W1	7	984442	Missense_Mutation	SNP	G	C3N-00560_TP	303757	984442	158361531	472	18411											
ELFN1	0	.	GRCh38	chr7	1744695	1744695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagactgctggctgatcgaGggcgacaagggcttcgtgtg	7	8	17	9	3	0	2	0	1	0	1	2	4	0	2	0	3	1	4	0	3	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.99G>T	p.Glu33Asp	p.E33D	ENST00000424383	3/3	360	265	95	242	242	0	strelka-varscan-mutect	ELFN1,missense_variant,p.Glu33Asp,ENST00000424383,;ELFN1,missense_variant,p.Glu33Asp,ENST00000561626,NM_001128636.2;ELFN1-AS1,upstream_gene_variant,,ENST00000453348,;ELFN1-AS1,upstream_gene_variant,,ENST00000415399,;	T	ENST00000424383	Transcript	missense_variant	586/3845	99/2487	33/828	E/D	gaG/gaT		1		1	ELFN1	HGNC	HGNC:33154	protein_coding	YES	CCDS59046.1	ENSP00000456548	P0C7U0		UPI0000251E11		deleterious(0.01)		3/3		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF34																	MODERATE		SNV	5			1										PASS		rs1285420106	.												T	3	4	57	1744695	1744695	G	T	1	0	0	0	0	1	0	0	0	4891	991	35	2		2	ELFN1	7	1744695	Missense_Mutation	SNP	G	C3N-00560_TP	760253	1744695	157601278	473	18412											
NUDT1	0	.	GRCh38	chr7	2249978	2249978	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgcacagacagcatcCaggggacccccgtggagagc	9	6	12	14	1	2	2	0	0	2	2	3	4	3	3	3	3	3	2	3	3	0	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.343C>T	p.Gln115Ter	p.Q115*	ENST00000397048	4/5	382	257	125	288	288	0	strelka-varscan-mutect	NUDT1,stop_gained,p.Gln115Ter,ENST00000397048,NM_198952.1;NUDT1,stop_gained,p.Gln115Ter,ENST00000343985,NM_198949.1,NM_198954.1;NUDT1,stop_gained,p.Gln92Ter,ENST00000397049,;NUDT1,stop_gained,p.Gln92Ter,ENST00000397046,NM_198950.1;NUDT1,stop_gained,p.Gln92Ter,ENST00000339737,NM_198953.1;NUDT1,stop_gained,p.Gln92Ter,ENST00000356714,NM_002452.3,NM_198948.1;SNX8,downstream_gene_variant,,ENST00000222990,NM_013321.3;NUDT1,non_coding_transcript_exon_variant,,ENST00000487426,;NUDT1,downstream_gene_variant,,ENST00000471348,;	T	ENST00000397048	Transcript	stop_gained	442/783	343/540	115/179	Q/*	Cag/Tag		1		1	NUDT1	HGNC	HGNC:8048	protein_coding	YES	CCDS5329.1	ENSP00000380241	P36639	A0A024R858	UPI000013C81F	NM_198952.1			4/5		Gene3D:3.90.79.10,Pfam_domain:PF00293,Prints_domain:PR01403,PROSITE_profiles:PS51462,hmmpanther:PTHR22769,hmmpanther:PTHR22769:SF20,Superfamily_domains:SSF55811																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	2249978	2249978	C	T	1	0	0	0	0	0	1	0	0	10791	595	21	3		3	NUDT1	7	2249978	Nonsense_Mutation	SNP	C	C3N-00560_TP	505283	2249978	157095995	474	18413											
EIF3B	0	.	GRCh38	chr7	2369530	2369530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgggtgcctgaagacaaaGatattccagccagggtaacc	12	8	11	10	0	1	3	0	1	1	2	2	3	2	3	4	2	3	1	4	2	4	3			C3N-00560_TP	C3N-00560_NB	G	G																c.1462G>A	p.Asp488Asn	p.D488N	ENST00000360876	10/19	608	429	179	478	477	1	strelka-varscan-mutect	EIF3B,missense_variant,p.Asp488Asn,ENST00000360876,NM_001037283.1;EIF3B,missense_variant,p.Asp488Asn,ENST00000397011,NM_003751.3;EIF3B,downstream_gene_variant,,ENST00000431643,;EIF3B,non_coding_transcript_exon_variant,,ENST00000466199,;EIF3B,upstream_gene_variant,,ENST00000475415,;EIF3B,downstream_gene_variant,,ENST00000463026,;EIF3B,downstream_gene_variant,,ENST00000468250,;EIF3B,downstream_gene_variant,,ENST00000463229,;	A	ENST00000360876	Transcript	missense_variant	1518/3055	1462/2445	488/814	D/N	Gat/Aat	COSM600543	1		1	EIF3B	HGNC	HGNC:3280	protein_coding	YES	CCDS5332.1	ENSP00000354125	P55884	A0A024R821	UPI000013F934	NM_001037283.1	tolerated(0.61)		10/19		HAMAP:MF_03001,hmmpanther:PTHR14068:SF0,hmmpanther:PTHR14068,Gene3D:2.130.10.10,PIRSF_domain:PIRSF036424,Superfamily_domains:0047732											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	57	2369530	2369530	G	A	1	0	0	0	0	1	0	0	0	4847	942	33	3		3	EIF3B	7	2369530	Missense_Mutation	SNP	G	C3N-00560_TP	119552	2369530	156976443	475	18414											
TNRC18	0	.	GRCh38	chr7	5388429	5388429	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtccgcctcgggcttgagCagctccttggcaggcacgta	5	8	15	13	3	0	1	0	1	0	0	3	1	2	1	3	4	2	6	3	4	1	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1395G>T	p.=	p.L465L	ENST00000430969	5/30	213	153	60	120	120	0	strelka-varscan-mutect	TNRC18,synonymous_variant,p.=,ENST00000399537,;TNRC18,synonymous_variant,p.=,ENST00000430969,NM_001080495.2;TNRC18,downstream_gene_variant,,ENST00000399434,;TNRC18,upstream_gene_variant,,ENST00000413081,;TNRC18,downstream_gene_variant,,ENST00000434361,;	A	ENST00000430969	Transcript	synonymous_variant	1744/10562	1395/8907	465/2968	L	ctG/ctT		1		-1	TNRC18	HGNC	HGNC:11962	protein_coding	YES	CCDS47534.1	ENSP00000395538	O15417		UPI00016632FD	NM_001080495.2			5/30		hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF21																	LOW	1	SNV	5			1										PASS		rs1378760359	.												A	2	1	57	5388429	5388429	C	A	1	0	0	0	0	0	0	0	1	16812	697	25	2		2	TNRC18	7	5388429	Silent	SNP	C	C3N-00560_TP	3018899	5388429	153957544	476	18415											
TNRC18	0	.	GRCh38	chr7	5421124	5421124	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgggccgggcaagccCgaggcgggcaagcgtccggc	6	1	20	14	6	0	0	0	0	0	0	1	1	1	0	3	6	3	3	3	6	2	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.123G>T	p.=	p.S41S	ENST00000430969	2/30	25	19	6	16	16	0	strelka-mutect	TNRC18,synonymous_variant,p.=,ENST00000399537,;TNRC18,synonymous_variant,p.=,ENST00000430969,NM_001080495.2;TNRC18,intron_variant,,ENST00000399434,;RP11-1275H24.2,upstream_gene_variant,,ENST00000609130,;AC092171.2,intron_variant,,ENST00000455866,;AC093620.5,downstream_gene_variant,,ENST00000342963,;	A	ENST00000430969	Transcript	synonymous_variant	472/10562	123/8907	41/2968	S	tcG/tcT		1		-1	TNRC18	HGNC	HGNC:11962	protein_coding	YES	CCDS47534.1	ENSP00000395538	O15417		UPI00016632FD	NM_001080495.2			2/30		Low_complexity_(Seg):seg																	LOW		SNV	5			1										PASS		rs1221886256	.												A	2	1	57	5421124	5421124	C	A	1	0	0	0	0	0	0	0	1	16812	639	23	1		1	TNRC18	7	5421124	Silent	SNP	C	C3N-00560_TP	32695	5421124	153924849	477	18416											
USP42	0	.	GRCh38	chr7	6139101	6139101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattttacaggtatagctaGgcacttccgttttggaaacc	12	13	8	8	1	0	0	0	0	0	0	1	1	1	1	2	3	3	4	2	3	6	8	rs752099114		C3N-00560_TP	C3N-00560_NB	G	G																c.563G>T	p.Arg188Met	p.R188M	ENST00000306177	5/18	149	106	43	101	101	0	strelka-varscan-mutect	USP42,missense_variant,p.Arg188Met,ENST00000306177,NM_032172.2;USP42,missense_variant,p.Arg34Met,ENST00000426246,;USP42,missense_variant,p.Arg121Met,ENST00000465073,;USP42,missense_variant,p.Arg188Met,ENST00000521713,;USP42,3_prime_UTR_variant,,ENST00000404008,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;	T	ENST00000306177	Transcript	missense_variant	721/5155	563/3951	188/1316	R/M	aGg/aTg	rs752099114	1		1	USP42	HGNC	HGNC:20068	protein_coding	YES	CCDS47535.1	ENSP00000301962	Q9H9J4		UPI0000416754	NM_032172.2	deleterious(0)		5/18		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF409,Superfamily_domains:SSF54001																	MODERATE	1	SNV	5			1										PASS		rs752099114	.												T	3	4	57	6139101	6139101	G	T	1	0	0	0	0	1	0	0	0	17616	1000	35	2		2	USP42	7	6139101	Missense_Mutation	SNP	G	C3N-00560_TP	717977	6139101	153206872	478	18417											
GRID2IP	0	.	GRCh38	chr7	6551410	6551410	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggccagccctggttCgtggccggcgtggcagtggt	2	10	16	13	3	1	0	0	0	1	0	3	0	2	0	4	6	1	2	4	6	0	1	rs4724818		C3N-00560_TP	C3N-00560_NB	C	C																c.27G>T	p.=	p.T9T	ENST00000457091	1/22	423	304	119	345	345	0	strelka-varscan-mutect	GRID2IP,synonymous_variant,p.=,ENST00000457091,NM_001145118.1;	A	ENST00000457091	Transcript	synonymous_variant	27/3636	27/3636	9/1211	T	acG/acT	rs4724818	1		-1	GRID2IP	HGNC	HGNC:18464	protein_coding	YES	CCDS47537.1	ENSP00000397351	A4D2P6		UPI0001722D0B	NM_001145118.1			1/22		PROSITE_profiles:PS50106																	LOW	1	SNV	5			1										PASS		rs4724818	.												A	2	1	57	6551410	6551410	C	A	1	0	0	0	0	0	0	0	1	6653	871	31	1		1	GRID2IP	7	6551410	Silent	SNP	C	C3N-00560_TP	412309	6551410	152794563	479	18418											
ZNF853	0	.	GRCh38	chr7	6622589	6622589	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatctggtgacgcaccaacGcatccacacgggcgagaaac	13	4	11	13	4	1	2	0	1	1	1	2	4	2	2	2	2	2	2	2	2	3	0			C3N-00560_TP	C3N-00560_NB	G	G																c.1598G>C	p.Arg533Pro	p.R533P	ENST00000457543	3/3	288	208	80	184	184	0	strelka-varscan-mutect	ZNF853,missense_variant,p.Arg533Pro,ENST00000457543,NM_017560.1;	C	ENST00000457543	Transcript	missense_variant	2156/3857	1598/1980	533/659	R/P	cGc/cCc	COSM5472430,COSM5472431	1		1	ZNF853	HGNC	HGNC:21767	protein_coding	YES	CCDS59048.1	ENSP00000455585	P0CG23		UPI00018E24EF	NM_017560.1	deleterious_low_confidence(0)		3/3		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24409,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667											1,1						MODERATE	1	SNV	3		1,1	1										PASS		rs1457638924	.												C	3	2	57	6622589	6622589	G	C	1	0	0	0	0	1	0	0	0	18784	1087	38	4		4	ZNF853	7	6622589	Missense_Mutation	SNP	G	C3N-00560_TP	71179	6622589	152723384	480	18419											
ZNF12	0	.	GRCh38	chr7	6691430	6691430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatagtgaggtatgacaaCtgggagaataactttccaca	14	10	11	6	0	0	3	0	2	0	1	1	5	1	4	1	3	2	1	1	3	5	4	rs746237527		C3N-00560_TP	C3N-00560_NB	C	C																c.1512G>T	p.Gln504His	p.Q504H	ENST00000405858	5/5	238	164	74	165	165	0	strelka-varscan-mutect	ZNF12,missense_variant,p.Gln504His,ENST00000405858,NM_016265.3;ZNF12,missense_variant,p.Gln430His,ENST00000404360,;ZNF12,missense_variant,p.Gln466His,ENST00000342651,NM_006956.2;AC073343.13,intron_variant,,ENST00000366167,;	A	ENST00000405858	Transcript	missense_variant	2054/5051	1512/2094	504/697	Q/H	caG/caT	rs746237527	1		-1	ZNF12	HGNC	HGNC:12902	protein_coding	YES	CCDS47538.1	ENSP00000385939	P17014		UPI000020EAF7	NM_016265.3	tolerated(0.28)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF85,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs746237527	.												A	3	1	57	6691430	6691430	C	A	1	0	0	0	0	1	0	0	0	18299	564	20	2		2	ZNF12	7	6691430	Missense_Mutation	SNP	C	C3N-00560_TP	68841	6691430	152654543	481	18420											
COL28A1	0	.	GRCh38	chr7	7443654	7443654	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaagccccgcttctccCtagagaaaatgacactgatg	11	7	9	14	2	1	3	0	2	1	1	2	5	1	4	4	1	1	1	4	1	4	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1582-1G>T		p.X528_splice	ENST00000399429		151	99	52	152	152	0	strelka-varscan-mutect	COL28A1,splice_acceptor_variant,,ENST00000399429,NM_001037763.2;COL28A1,splice_acceptor_variant,,ENST00000444268,;	A	ENST00000399429	Transcript	splice_acceptor_variant	-/4277	1582/3378	528/1125				1		-1	COL28A1	HGNC	HGNC:22442	protein_coding	YES	CCDS43553.1	ENSP00000382356	Q2UY09		UPI000155D64E	NM_001037763.2				19/34																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	57	7443654	7443654	C	A	1	0	0	0	0	0	0	1	0	3475	695	24	2		2	COL28A1	7	7443654	Splice_Site	SNP	C	C3N-00560_TP	752224	7443654	151902319	482	18421											
TSPAN13	0	.	GRCh38	chr7	16753981	16753981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccaagatggtttgcggggGcttcgcgtgttccaagaact	7	12	13	9	3	0	2	0	0	0	2	3	2	2	2	2	3	2	3	2	3	3	4	rs200364974		C3N-00560_TP	C3N-00560_NB	G	G																c.14G>A	p.Gly5Asp	p.G5D	ENST00000262067	1/6	563	390	173	372	372	0	strelka-varscan-mutect	TSPAN13,missense_variant,p.Gly5Asp,ENST00000262067,NM_014399.3;	A	ENST00000262067	Transcript	missense_variant	447/2093	14/615	5/204	G/D	gGc/gAc	rs200364974	1		1	TSPAN13	HGNC	HGNC:21643	protein_coding	YES	CCDS5363.1	ENSP00000262067	O95857	Q6FGK0	UPI0000048EB9	NM_014399.3	deleterious(0)		1/6		hmmpanther:PTHR19282:SF203,hmmpanther:PTHR19282,PIRSF_domain:PIRSF002419																	MODERATE	1	SNV	1			1										PASS		rs200364974	.												A	3	1	57	16753981	16753981	G	A	1	0	0	0	0	1	0	0	0	17142	1203	42	3		3	TSPAN13	7	16753981	Missense_Mutation	SNP	G	C3N-00560_TP	9310327	16753981	142591992	483	18422											
TMEM196	0	.	GRCh38	chr7	19724313	19724313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgtcgggggcaccaccGggcagctgggcaagtcggtt	5	7	18	11	3	0	0	0	0	0	0	2	0	0	0	2	6	1	5	2	6	1	1	rs748067485		C3N-00560_TP	C3N-00560_NB	G	G																c.500C>A	p.Pro167Gln	p.P167Q	ENST00000405844	4/5	241	175	66	231	231	0	strelka-varscan-mutect	TMEM196,missense_variant,p.Pro167Gln,ENST00000405844,;TMEM196,missense_variant,p.Pro99Gln,ENST00000422233,;TMEM196,3_prime_UTR_variant,,ENST00000433641,;TMEM196,intron_variant,,ENST00000405764,NM_152774.3;TMEM196,intron_variant,,ENST00000493519,;	T	ENST00000405844	Transcript	missense_variant	1196/4054	500/540	167/179	P/Q	cCg/cAg	rs748067485	1		-1	TMEM196	HGNC	HGNC:22431	protein_coding			ENSP00000385087		B7WNR7	UPI0000469AC8		deleterious_low_confidence(0.01)		4/5		hmmpanther:PTHR28681																	MODERATE		SNV	5			1										PASS		rs748067485	.												T	3	4	57	19724313	19724313	G	T	1	0	0	0	0	1	0	0	0	16558	1116	39	1		1	TMEM196	7	19724313	Missense_Mutation	SNP	G	C3N-00560_TP	2970332	19724313	139621660	484	18423											
TMEM196	0	.	GRCh38	chr7	19725626	19725626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaagagagagtgcagcccCcgatcccaatgcacgcgaga	13	3	13	12	3	0	3	0	0	0	3	1	7	1	4	3	1	3	2	3	1	2	0	rs780657033		C3N-00560_TP	C3N-00560_NB	C	C																c.347G>T	p.Gly116Val	p.G116V	ENST00000405764	3/4	309	228	81	277	277	0	strelka-varscan-mutect	TMEM196,missense_variant,p.Gly116Val,ENST00000405844,;TMEM196,missense_variant,p.Gly116Val,ENST00000405764,NM_152774.3;TMEM196,missense_variant,p.Gly48Val,ENST00000422233,;TMEM196,missense_variant,p.Gly48Val,ENST00000433641,;TMEM196,missense_variant,p.Gly48Val,ENST00000493519,;	A	ENST00000405764	Transcript	missense_variant	1044/3975	347/519	116/172	G/V	gGg/gTg	rs780657033	1		-1	TMEM196	HGNC	HGNC:22431	protein_coding	YES	CCDS34607.2	ENSP00000384234	Q5HYL7		UPI00005A9078	NM_152774.3	tolerated_low_confidence(0.16)		3/4		hmmpanther:PTHR28681,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs780657033	.												A	3	1	57	19725626	19725626	C	A	1	0	0	0	0	1	0	0	0	16558	623	22	2		2	TMEM196	7	19725626	Missense_Mutation	SNP	C	C3N-00560_TP	1313	19725626	139620347	485	18424											
NPVF	0	.	GRCh38	chr7	25226848	25226853	+	In_Frame_Del	DEL	GCTGTT	GCTGTT	-																															cagatctcagaggcaggttgGctgttgctccagcacttctt																								novel		C3N-00560_TP	C3N-00560_NB	GCTGTT	GCTGTT																c.312_317delAACAGC	p.Thr105_Ala106del	p.T105_A106del	ENST00000222674	2/3	215	134	81	209	209	0	sindel-varindel-pindel	NPVF,inframe_deletion,p.Thr105_Ala106del,ENST00000222674,NM_022150.3;	-	ENST00000222674	Transcript	inframe_deletion	359-364/1190	312-317/591	104-106/196	ATA/A	gcAACAGCc/gcc		1		-1	NPVF	HGNC	HGNC:13782	protein_coding	YES	CCDS5395.1	ENSP00000222674	Q9HCQ7		UPI000013380C	NM_022150.3			2/3		hmmpanther:PTHR14403																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	57	25226848	25226848	GCTGTT	-	1	0	1	0	1	0	0	0	0	10661	1203	42	0		0	NPVF	7	25226848	In_Frame_Del	DEL	GCTGTT	C3N-00560_TP	5501222	25226848	134119125	486	18425											
SKAP2	0	.	GRCh38	chr7	26726903	26726903	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatatatacgtttatcaggAgcagagatttcaaaacagca	16	11	8	6	1	2	2	2	1	0	1	2	4	2	3	0	1	4	3	0	1	6	6	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.573T>A	p.=	p.A191A	ENST00000345317	7/13	56	38	18	112	112	0	strelka-varscan-mutect	SKAP2,synonymous_variant,p.=,ENST00000345317,NM_003930.4,NM_001303468.1;SKAP2,non_coding_transcript_exon_variant,,ENST00000489977,;SKAP2,non_coding_transcript_exon_variant,,ENST00000495802,;SKAP2,non_coding_transcript_exon_variant,,ENST00000468712,;	T	ENST00000345317	Transcript	synonymous_variant	887/3998	573/1080	191/359	A	gcT/gcA		1		-1	SKAP2	HGNC	HGNC:15687	protein_coding	YES	CCDS5400.1	ENSP00000005587	O75563		UPI0000073C8C	NM_003930.4,NM_001303468.1			7/13		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR15129,hmmpanther:PTHR15129:SF2,SMART_domains:SM00233,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	26726903	26726903	A	T	1	0	0	0	0	0	0	0	1	14618	291	11	4		4	SKAP2	7	26726903	Silent	SNP	A	C3N-00560_TP	1500055	26726903	132619070	487	18426											
HOXA2	0	.	GRCh38	chr7	27102261	27102261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgggcaccgggctgccgcgGctgcccgcggggctcggctt	1	5	19	16	7	0	0	0	0	0	0	1	0	0	0	3	6	2	5	3	6	0	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.240C>A	p.Ser80Arg	p.S80R	ENST00000222718	1/2	267	167	100	130	130	0	strelka-varscan-mutect	HOXA2,missense_variant,p.Ser80Arg,ENST00000222718,NM_006735.3;HOXA3,downstream_gene_variant,,ENST00000612286,NM_153631.2;HOXA3,downstream_gene_variant,,ENST00000396352,NM_030661.4;HOXA3,downstream_gene_variant,,ENST00000317201,;HOTAIRM1,downstream_gene_variant,,ENST00000428939,;HOTAIRM1,downstream_gene_variant,,ENST00000429611,;HOTAIRM1,downstream_gene_variant,,ENST00000434063,;HOTAIRM1,downstream_gene_variant,,ENST00000593300,;HOTAIRM1,downstream_gene_variant,,ENST00000425358,;HOTAIRM1_2,downstream_gene_variant,,ENST00000616712,;HOTAIRM1_5,downstream_gene_variant,,ENST00000619311,;HOTAIRM1_4,downstream_gene_variant,,ENST00000617934,;HOTAIRM1_3,downstream_gene_variant,,ENST00000619974,;HOXA2,non_coding_transcript_exon_variant,,ENST00000612779,;	T	ENST00000222718	Transcript	missense_variant	551/1814	240/1131	80/376	S/R	agC/agA		1		-1	HOXA2	HGNC	HGNC:5103	protein_coding	YES	CCDS5403.1	ENSP00000222718	O43364		UPI0000049C49	NM_006735.3	tolerated(0.53)		1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF179																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	27102261	27102261	G	T	1	0	0	0	0	1	0	0	0	7186	1194	42	2		2	HOXA2	7	27102261	Missense_Mutation	SNP	G	C3N-00560_TP	375358	27102261	132243712	488	18427											
CREB5	0	.	GRCh38	chr7	28804334	28804334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgcactcgcacccgcatCagcaccagacactgccaccc	11	4	6	20	2	1	1	1	0	0	1	2	1	1	1	4	0	3	4	4	0	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.838C>A	p.Gln280Lys	p.Q280K	ENST00000357727	8/11	588	408	180	510	510	0	strelka-varscan-mutect	CREB5,missense_variant,p.Gln280Lys,ENST00000357727,NM_182898.3;CREB5,missense_variant,p.Gln273Lys,ENST00000396300,NM_004904.3;CREB5,missense_variant,p.Gln247Lys,ENST00000396299,NM_182899.4;CREB5,missense_variant,p.Gln141Lys,ENST00000396298,NM_001011666.2;CREB5,missense_variant,p.Gln247Lys,ENST00000409603,;CREB5,missense_variant,p.Gln106Lys,ENST00000426500,;	A	ENST00000357727	Transcript	missense_variant	1228/8532	838/1527	280/508	Q/K	Cag/Aag		1		1	CREB5	HGNC	HGNC:16844	protein_coding	YES	CCDS5417.1	ENSP00000350359	Q02930		UPI0000457534	NM_182898.3	deleterious(0.05)		8/11		PIRSF_domain:PIRSF003153,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	28804334	28804334	C	A	1	0	0	0	0	1	0	0	0	3660	827	29	2		2	CREB5	7	28804334	Missense_Mutation	SNP	C	C3N-00560_TP	1702073	28804334	130541639	489	18428											
AQP1	0	.	GRCh38	chr7	30921836	30921836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggggcctgggtctaggCaggtattaggggctgggctg	5	9	21	6	0	1	0	0	0	1	0	1	1	1	0	1	8	0	4	1	8	3	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.133C>G	p.Gln45Glu	p.Q45E	ENST00000441328	2/5	138	97	41	93	93	0	strelka-varscan-mutect	AQP1,missense_variant,p.Gln45Glu,ENST00000441328,NM_001185060.1;AQP1,missense_variant,p.Gln77Glu,ENST00000409611,NM_001185061.1;AQP1,intron_variant,,ENST00000311813,NM_198098.2;RP5-877J2.1,intron_variant,,ENST00000509504,;AQP1,intron_variant,,ENST00000409899,NM_001185062.1;AQP1,intron_variant,,ENST00000482461,;	G	ENST00000441328	Transcript	missense_variant,splice_region_variant	172/2487	133/561	45/186	Q/E	Cag/Gag		1		1	AQP1	HGNC	HGNC:633	protein_coding		CCDS55098.1	ENSP00000405698	P29972		UPI000189292C	NM_001185060.1	tolerated(0.72)		2/5		hmmpanther:PTHR19139,hmmpanther:PTHR19139:SF161,Gene3D:1.20.1080.10,Pfam_domain:PF00230																	MODERATE		SNV	1			1										PASS		.	.												G	3	3	57	30921836	30921836	C	G	1	0	0	0	0	1	0	0	0	944	724	25	4		4	AQP1	7	30921836	Missense_Mutation	SNP	C	C3N-00560_TP	2117502	30921836	128424137	490	18429											
PDE1C	0	.	GRCh38	chr7	31828315	31828315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgactgagcaaccataGtggactttcggtcacacaga	11	10	10	10	1	1	3	1	2	0	1	2	4	1	4	1	2	2	1	1	2	2	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1442C>T	p.Thr481Ile	p.T481I	ENST00000396193	13/19	222	173	49	168	168	0	strelka-varscan-mutect	PDE1C,missense_variant,p.Thr421Ile,ENST00000396184,NM_001322057.1,NM_001322056.1,NM_001322059.1,NM_005020.3;PDE1C,missense_variant,p.Thr481Ile,ENST00000396193,NM_001191058.2;PDE1C,missense_variant,p.Thr421Ile,ENST00000396191,NM_001191057.2;PDE1C,missense_variant,p.Thr421Ile,ENST00000321453,NM_001191059.2;PDE1C,missense_variant,p.Thr421Ile,ENST00000396182,NM_001191056.2;	A	ENST00000396193	Transcript	missense_variant	2036/5109	1442/2310	481/769	T/I	aCt/aTt		1		-1	PDE1C	HGNC	HGNC:8776	protein_coding	YES	CCDS55100.1	ENSP00000379496		A0A0A0MS69	UPI00043788D1	NM_001191058.2	tolerated(0.05)		13/19		Gene3D:1.10.1300.10,Pfam_domain:PF00233,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF32,Superfamily_domains:SSF109604																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	31828315	31828315	G	A	1	0	0	0	0	1	0	0	0	11723	1029	36	3		3	PDE1C	7	31828315	Missense_Mutation	SNP	G	C3N-00560_TP	906479	31828315	127517658	491	18430											
FKBP9	0	.	GRCh38	chr7	32974756	32974756	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttgcctacggaaatgaaGgagtttgtaagcttttcttc	10	14	10	7	1	1	1	0	1	1	0	2	3	1	3	1	2	4	4	1	2	4	7	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.520G>T	p.Gly174Ter	p.G174*	ENST00000538336	3/11	132	124	8	110	110	0	varscan-mutect	FKBP9,stop_gained,p.Gly174Ter,ENST00000538336,NM_001284341.1;FKBP9,stop_gained,p.Gly121Ter,ENST00000242209,NM_007270.4;FKBP9,upstream_gene_variant,,ENST00000490776,NM_001284343.1;FKBP9,upstream_gene_variant,,ENST00000418354,;FKBP9,intron_variant,,ENST00000469202,;FKBP9,upstream_gene_variant,,ENST00000489038,;FKBP9,upstream_gene_variant,,ENST00000472007,;FKBP9,downstream_gene_variant,,ENST00000464334,;FKBP9,non_coding_transcript_exon_variant,,ENST00000494374,;FKBP9,non_coding_transcript_exon_variant,,ENST00000485309,;	T	ENST00000538336	Transcript	stop_gained	690/3621	520/1872	174/623	G/*	Gga/Tga		1		1	FKBP9	HGNC	HGNC:3725	protein_coding	YES	CCDS64622.1	ENSP00000439250	O95302		UPI0001914EC6	NM_001284341.1			3/11		PROSITE_profiles:PS50059,hmmpanther:PTHR10516:SF111,hmmpanther:PTHR10516,Pfam_domain:PF00254,Gene3D:3.10.50.40,Superfamily_domains:SSF54534																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	57	32974756	32974756	G	T	1	0	0	0	0	0	1	0	0	5778	1001	35	2		2	FKBP9	7	32974756	Nonsense_Mutation	SNP	G	C3N-00560_TP	1146441	32974756	126371217	492	18431											
BMPER	0	.	GRCh38	chr7	33970411	33970411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggaatgtgctgccccaCatgtccaggtaacgttctca	8	11	10	12	1	2	0	1	0	2	0	4	1	3	1	3	2	3	3	3	2	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.485C>T	p.Thr162Ile	p.T162I	ENST00000297161	6/16	417	295	122	374	374	0	strelka-varscan-mutect	BMPER,missense_variant,p.Thr162Ile,ENST00000297161,NM_133468.4;BMPER,missense_variant,p.His129Tyr,ENST00000436222,;BMPER,downstream_gene_variant,,ENST00000444773,;	T	ENST00000297161	Transcript	missense_variant	859/5031	485/2058	162/685	T/I	aCa/aTa		1		1	BMPER	HGNC	HGNC:24154	protein_coding	YES	CCDS5442.1	ENSP00000297161	Q8N8U9	A0A090N7U6	UPI000006D462	NM_133468.4	deleterious(0.01)		6/16		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF272,SMART_domains:SM00214,Superfamily_domains:SSF57603,Superfamily_domains:SSF57603																	MODERATE	1	SNV	1			1										PASS		rs1245250061	.												T	3	4	57	33970411	33970411	C	T	1	0	0	0	0	1	0	0	0	1623	478	17	3		3	BMPER	7	33970411	Missense_Mutation	SNP	C	C3N-00560_TP	995655	33970411	125375562	493	18432											
NPSR1	0	.	GRCh38	chr7	34684684	34684684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgactcagctggccatcacaGgtaagtaactatgcaagtga	13	9	10	9	0	2	2	2	2	0	0	2	2	2	2	1	2	3	4	1	2	4	3	rs761286205		C3N-00560_TP	C3N-00560_NB	G	G																c.280G>T	p.Asp94Tyr	p.D94Y	ENST00000381539	2/10	100	73	27	91	91	0	varscan-mutect	NPSR1,stop_gained,p.Glu94Ter,ENST00000381542,NM_001300934.1;NPSR1,missense_variant,p.Asp94Tyr,ENST00000360581,NM_207172.1;NPSR1,missense_variant,p.Asp94Tyr,ENST00000359791,NM_207173.1;NPSR1,missense_variant,p.Asp94Tyr,ENST00000531252,NM_001300933.1;NPSR1,missense_variant,p.Asp94Tyr,ENST00000381539,NM_001300935.1;NPSR1,missense_variant,p.Asp94Tyr,ENST00000381553,;NPSR1,missense_variant,p.Val94Leu,ENST00000465305,;NPSR1-AS1,intron_variant,,ENST00000419766,;NPSR1-AS1,intron_variant,,ENST00000539747,;NPSR1-AS1,intron_variant,,ENST00000439852,;NPSR1-AS1,intron_variant,,ENST00000358772,;NPSR1-AS1,intron_variant,,ENST00000431669,;NPSR1,missense_variant,p.Asp94Tyr,ENST00000396095,;NPSR1,missense_variant,p.Gly94Cys,ENST00000381544,;	T	ENST00000381539	Transcript	missense_variant,splice_region_variant	284/1233	280/1173	94/390	D/Y	Gat/Tat	rs761286205,COSM5326320,COSM5326321,COSM5326322,COSM5326323	1		1	NPSR1	HGNC	HGNC:23631	protein_coding	YES	CCDS75579.1	ENSP00000370950	Q6W5P4		UPI00004F9C01	NM_001300935.1	deleterious(0)		2/10		PROSITE_profiles:PS50262,hmmpanther:PTHR24244,hmmpanther:PTHR24244:SF2,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs761286205	.												T	3	4	57	34684684	34684684	G	T	1	0	0	0	0	1	0	0	0	10656	1014	35	2		2	NPSR1	7	34684684	Missense_Mutation	SNP	G	C3N-00560_TP	714273	34684684	124661289	494	18433											
HECW1	0	.	GRCh38	chr7	43554619	43554619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatgggcatcttgtgatccGctggttctgggctgcggtgg	3	12	17	9	3	2	1	0	1	2	0	3	2	3	1	1	5	1	4	1	5	0	2	rs139970379		C3N-00560_TP	C3N-00560_NB	G	G																c.4538G>T	p.Arg1513Leu	p.R1513L	ENST00000395891	29/30	309	225	84	277	277	0	strelka-varscan-mutect	HECW1,missense_variant,p.Arg1513Leu,ENST00000395891,NM_015052.4;HECW1,missense_variant,p.Arg1479Leu,ENST00000453890,NM_001287059.1;	T	ENST00000395891	Transcript	missense_variant	5143/9501	4538/4821	1513/1606	R/L	cGc/cTc	rs139970379	1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4	deleterious(0.04)		29/30		PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		rs139970379	.												T	3	4	57	43554619	43554619	G	T	1	0	0	0	0	1	0	0	0	6924	1087	38	1		1	HECW1	7	43554619	Missense_Mutation	SNP	G	C3N-00560_TP	8869935	43554619	115791354	495	18434											
AEBP1	0	.	GRCh38	chr7	44108922	44108922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actattactttgggcctcctCcgccccagaagcccgatgct	7	10	8	16	2	0	1	0	0	0	1	2	2	2	1	6	1	3	1	6	1	3	3			C3N-00560_TP	C3N-00560_NB	C	C																c.964C>A	p.Pro322Thr	p.P322T	ENST00000223357	7/21	261	181	80	191	189	2	strelka-varscan-mutect	AEBP1,missense_variant,p.Pro322Thr,ENST00000223357,NM_001129.4;AEBP1,missense_variant,p.Pro215Thr,ENST00000455443,;AEBP1,upstream_gene_variant,,ENST00000450684,;AEBP1,downstream_gene_variant,,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000582839,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000413907,;AEBP1,upstream_gene_variant,,ENST00000431035,;AEBP1,upstream_gene_variant,,ENST00000453052,;AEBP1,upstream_gene_variant,,ENST00000434445,;	A	ENST00000223357	Transcript	missense_variant	1269/4081	964/3477	322/1158	P/T	Ccg/Acg	COSM1698613	1		1	AEBP1	HGNC	HGNC:303	protein_coding	YES	CCDS5476.1	ENSP00000223357	Q8IUX7		UPI00000746E2	NM_001129.4	tolerated_low_confidence(0.08)		7/21		hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF48											1						MODERATE	1	SNV	1		1	1										PASS		rs1187616022	.												A	3	1	57	44108922	44108922	C	A	1	0	0	0	0	1	0	0	0	424	855	30	2		2	AEBP1	7	44108922	Missense_Mutation	SNP	C	C3N-00560_TP	554303	44108922	115237051	496	18435											
AEBP1	0	.	GRCh38	chr7	44111914	44111914	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtgctgggccgagagcTgttgctgctgctcatgcagt	5	10	16	10	2	1	1	1	0	0	1	1	3	1	1	1	2	6	7	1	2	0	1	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1901T>A	p.Leu634Gln	p.L634Q	ENST00000223357	16/21	299	212	87	250	250	0	strelka-varscan-mutect	AEBP1,missense_variant,p.Leu634Gln,ENST00000223357,NM_001129.4;AEBP1,missense_variant,p.Leu209Gln,ENST00000450684,;POLD2,downstream_gene_variant,,ENST00000406581,NM_001256879.1;POLD2,downstream_gene_variant,,ENST00000452185,NM_001127218.2;POLD2,downstream_gene_variant,,ENST00000610533,NM_006230.3;POLD2,downstream_gene_variant,,ENST00000223361,;POLD2,downstream_gene_variant,,ENST00000436844,;AEBP1,downstream_gene_variant,,ENST00000455443,;AEBP1,downstream_gene_variant,,ENST00000449162,;POLD2,downstream_gene_variant,,ENST00000436400,;AEBP1,downstream_gene_variant,,ENST00000582839,;AEBP1,downstream_gene_variant,,ENST00000454218,;AEBP1,3_prime_UTR_variant,,ENST00000413907,;AEBP1,3_prime_UTR_variant,,ENST00000431035,;AEBP1,downstream_gene_variant,,ENST00000453052,;AEBP1,downstream_gene_variant,,ENST00000434445,;POLD2,downstream_gene_variant,,ENST00000481104,;POLD2,downstream_gene_variant,,ENST00000489883,;	A	ENST00000223357	Transcript	missense_variant	2206/4081	1901/3477	634/1158	L/Q	cTg/cAg		1		1	AEBP1	HGNC	HGNC:303	protein_coding	YES	CCDS5476.1	ENSP00000223357	Q8IUX7		UPI00000746E2	NM_001129.4	deleterious(0)		16/21		Gene3D:3.40.630.10,Pfam_domain:PF00246,PROSITE_patterns:PS00132,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF48,Low_complexity_(Seg):seg,SMART_domains:SM00631,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	44111914	44111914	T	A	1	0	0	0	0	1	0	0	0	424	1580	55	4		4	AEBP1	7	44111914	Missense_Mutation	SNP	T	C3N-00560_TP	2992	44111914	115234059	497	18436											
CCM2	0	.	GRCh38	chr7	45074371	45074371	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagttctgcatcaacctgcgGcagctctacggggacagccg	8	7	13	13	3	3	0	1	0	2	0	3	2	3	1	2	3	6	4	2	3	2	2	rs771358794		C3N-00560_TP	C3N-00560_NB	G	G																c.1080G>T	p.=	p.R360R	ENST00000381112	9/10	435	292	143	330	330	0	strelka-varscan-mutect	CCM2,synonymous_variant,p.=,ENST00000475551,;CCM2,synonymous_variant,p.=,ENST00000258781,NM_031443.3;CCM2,synonymous_variant,p.=,ENST00000381112,NM_001029835.2;CCM2,synonymous_variant,p.=,ENST00000541586,NM_001167934.1;CCM2,synonymous_variant,p.=,ENST00000544363,NM_001167935.1;CCM2,synonymous_variant,p.=,ENST00000474617,;CCM2,downstream_gene_variant,,ENST00000480382,;CCM2,non_coding_transcript_exon_variant,,ENST00000461377,;CCM2,downstream_gene_variant,,ENST00000482714,;CCM2,downstream_gene_variant,,ENST00000472223,;CCM2,downstream_gene_variant,,ENST00000478582,;CCM2,3_prime_UTR_variant,,ENST00000488727,;CCM2,non_coding_transcript_exon_variant,,ENST00000481194,;CCM2,non_coding_transcript_exon_variant,,ENST00000477605,;CCM2,downstream_gene_variant,,ENST00000480658,;CCM2,downstream_gene_variant,,ENST00000492883,;CCM2,downstream_gene_variant,,ENST00000470837,;	T	ENST00000381112	Transcript	synonymous_variant	1151/1881	1080/1398	360/465	R	cgG/cgT	rs771358794,COSM5482124	1		1	CCM2	HGNC	HGNC:21708	protein_coding	YES	CCDS34630.1	ENSP00000370503	Q9BSQ5		UPI0000563237	NM_001029835.2			9/10		hmmpanther:PTHR21642,hmmpanther:PTHR21642:SF4,Pfam_domain:PF16545											0,1						LOW	1	SNV	2		0,1	1										PASS		rs771358794	.												T	2	4	57	45074371	45074371	G	T	1	0	0	0	0	0	0	0	1	2606	1190	42	2		2	CCM2	7	45074371	Silent	SNP	G	C3N-00560_TP	962457	45074371	114271602	498	18437											
UPP1	0	.	GRCh38	chr7	48107492	48107492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgccgccatgtgcagcGcctgcggcctccaaggtaag	6	9	13	13	3	0	0	0	0	0	0	1	0	1	0	5	2	4	3	5	2	2	2	rs753891294		C3N-00560_TP	C3N-00560_NB	G	G																c.778G>T	p.Ala260Ser	p.A260S	ENST00000331803	9/10	91	68	23	58	57	1	strelka-varscan-mutect	UPP1,missense_variant,p.Ala260Ser,ENST00000331803,NM_001287426.1;UPP1,missense_variant,p.Ala260Ser,ENST00000395564,NM_003364.3;UPP1,downstream_gene_variant,,ENST00000436673,;UPP1,downstream_gene_variant,,ENST00000416681,;UPP1,non_coding_transcript_exon_variant,,ENST00000482015,;UPP1,3_prime_UTR_variant,,ENST00000457596,;UPP1,3_prime_UTR_variant,,ENST00000395560,;UPP1,3_prime_UTR_variant,,ENST00000417464,;UPP1,non_coding_transcript_exon_variant,,ENST00000495446,;UPP1,downstream_gene_variant,,ENST00000421046,;UPP1,downstream_gene_variant,,ENST00000444999,;	T	ENST00000331803	Transcript	missense_variant	1401/1932	778/933	260/310	A/S	Gcc/Tcc	rs753891294	1		1	UPP1	HGNC	HGNC:12576	protein_coding	YES	CCDS5507.1	ENSP00000330032	Q16831		UPI0000137AC5	NM_001287426.1	tolerated(0.41)		9/10		Gene3D:3.40.50.1580,Pfam_domain:PF01048,hmmpanther:PTHR21234,hmmpanther:PTHR21234:SF15,Superfamily_domains:SSF53167,TIGRFAM_domain:TIGR01719																	MODERATE	1	SNV	1			1										PASS		rs753891294	.												T	3	4	57	48107492	48107492	G	T	1	0	0	0	0	1	0	0	0	17538	1087	38	1		1	UPP1	7	48107492	Missense_Mutation	SNP	G	C3N-00560_TP	3033121	48107492	111238481	499	18438											
FIGNL1	0	.	GRCh38	chr7	50445451	50445451	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccaagagaagcctcccTgcaaagctgtgtcatgtctg	11	8	11	11	0	2	1	1	0	1	1	3	3	3	2	3	1	3	2	3	1	3	0	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1837A>G	p.Arg613Gly	p.R613G	ENST00000419119	2/2	115	73	42	93	93	0	strelka-varscan-mutect	FIGNL1,missense_variant,p.Arg613Gly,ENST00000419119,;FIGNL1,missense_variant,p.Arg613Gly,ENST00000433017,NM_001287492.1;FIGNL1,missense_variant,p.Arg613Gly,ENST00000611938,;FIGNL1,missense_variant,p.Arg613Gly,ENST00000395556,NM_001042762.2,NM_022116.4;FIGNL1,missense_variant,p.Arg613Gly,ENST00000356889,;FIGNL1,missense_variant,p.Arg613Gly,ENST00000615084,NM_001287496.1,NM_001287494.1,NM_001287493.1;FIGNL1,missense_variant,p.Arg613Gly,ENST00000617389,NM_001287495.1;FIGNL1,missense_variant,p.Arg613Gly,ENST00000613602,;FIGNL1,downstream_gene_variant,,ENST00000440350,;FIGNL1,downstream_gene_variant,,ENST00000435566,;FIGNL1,downstream_gene_variant,,ENST00000420829,;FIGNL1,downstream_gene_variant,,ENST00000422854,;FIGNL1,downstream_gene_variant,,ENST00000448788,;FIGNL1,downstream_gene_variant,,ENST00000436590,;	C	ENST00000419119	Transcript	missense_variant	3391/3700	1837/2025	613/674	R/G	Agg/Ggg		1		-1	FIGNL1	HGNC	HGNC:13286	protein_coding	YES	CCDS5510.1	ENSP00000410811	Q6PIW4		UPI000013CE5D		deleterious(0)		2/2		hmmpanther:PTHR23074:SF75,hmmpanther:PTHR23074,Gene3D:1.10.8.60,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	50445451	50445451	T	C	1	0	0	0	0	1	0	0	0	5756	1579	55	5		5	FIGNL1	7	50445451	Missense_Mutation	SNP	T	C3N-00560_TP	2337959	50445451	108900522	500	18439											
VSTM2A	0	.	GRCh38	chr7	54549951	54549951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaactacggggagcttcagGaacacaaggcccaggcctat	12	5	11	13	1	1	0	1	0	0	0	1	2	1	2	3	5	4	1	3	5	5	3	rs761935287		C3N-00560_TP	C3N-00560_NB	G	G																c.415G>A	p.Glu139Lys	p.E139K	ENST00000402613	4/5	328	242	86	307	306	1	strelka-varscan-mutect	VSTM2A,missense_variant,p.Glu139Lys,ENST00000302287,NM_001317843.1;VSTM2A,missense_variant,p.Glu139Lys,ENST00000407838,NM_182546.3;VSTM2A,missense_variant,p.Glu139Lys,ENST00000404951,;VSTM2A,missense_variant,p.Glu139Lys,ENST00000402613,NM_001301009.1;VSTM2A,non_coding_transcript_exon_variant,,ENST00000498834,;VSTM2A,non_coding_transcript_exon_variant,,ENST00000466888,;VSTM2A,non_coding_transcript_exon_variant,,ENST00000469952,;VSTM2A,downstream_gene_variant,,ENST00000495904,;	A	ENST00000402613	Transcript	missense_variant	541/1076	415/723	139/240	E/K	Gaa/Aaa	rs761935287	1		1	VSTM2A	HGNC	HGNC:28499	protein_coding	YES	CCDS75604.1	ENSP00000384103		F8W8J5	UPI00003E58E7	NM_001301009.1	deleterious(0)		4/5		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF23,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	2			1										PASS		rs761935287	.												A	3	1	57	54549951	54549951	G	A	1	0	0	0	0	1	0	0	0	17780	1175	41	3		3	VSTM2A	7	54549951	Missense_Mutation	SNP	G	C3N-00560_TP	4104500	54549951	104796022	501	18440											
ZNF716	0	.	GRCh38	chr7	57469690	57469690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagaaaccctacaaatGtgaagaatgtggcaaagcct	16	7	11	7	0	0	3	0	1	0	2	0	5	0	4	2	2	3	1	2	2	6	1	rs782774321		C3N-00560_TP	C3N-00560_NB	G	G																c.1229G>T	p.Cys410Phe	p.C410F	ENST00000420713	4/4	265	200	65	278	278	0	strelka-varscan-mutect	ZNF716,missense_variant,p.Cys410Phe,ENST00000420713,NM_001159279.1;	T	ENST00000420713	Transcript	missense_variant	1341/5197	1229/1488	410/495	C/F	tGt/tTt	rs782774321	1		1	ZNF716	HGNC	HGNC:32458	protein_coding	YES	CCDS55112.1	ENSP00000394248	A6NP11		UPI00004192FD	NM_001159279.1	deleterious(0)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	4			1										PASS		rs782774321	.												T	3	4	57	57469690	57469690	G	T	1	0	0	0	0	1	0	0	0	18694	1377	48	2		2	ZNF716	7	57469690	Missense_Mutation	SNP	G	C3N-00560_TP	2919739	57469690	101876283	502	18441											
VKORC1L1	0	.	GRCh38	chr7	65873528	65873528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accgggccctctgcgacctgGggccctgggtgaagtgctcc	4	7	15	15	2	1	1	0	1	1	0	2	2	2	1	5	4	2	1	5	4	1	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.157G>A	p.Gly53Arg	p.G53R	ENST00000434382	1/2	313	252	61	179	179	0	strelka-varscan-mutect	VKORC1L1,missense_variant,p.Gly53Arg,ENST00000360768,NM_173517.4;VKORC1L1,missense_variant,p.Gly53Arg,ENST00000434382,NM_001284342.1;	A	ENST00000434382	Transcript	missense_variant	160/1541	157/534	53/177	G/R	Ggg/Agg		1		1	VKORC1L1	HGNC	HGNC:21492	protein_coding	YES	CCDS64663.1	ENSP00000403077	Q8N0U8		UPI0000423DF4	NM_001284342.1	deleterious(0)		1/2		hmmpanther:PTHR14519,hmmpanther:PTHR14519:SF4,Pfam_domain:PF07884																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	65873528	65873528	G	A	1	0	0	0	0	1	0	0	0	17720	1232	43	3		3	VKORC1L1	7	65873528	Missense_Mutation	SNP	G	C3N-00560_TP	8403838	65873528	93472445	503	18442											
TYW1B	0	.	GRCh38	chr7	72558875	72558875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgactccatggcctggtgtcCctcctaaaactgtctttgca	7	13	8	13	0	1	1	0	1	1	0	4	1	4	1	4	2	2	1	4	2	2	2	rs782266913		C3N-00560_TP	C3N-00560_NB	C	C																c.1313G>T	p.Gly438Val	p.G438V	ENST00000612372	12/12	258	206	52	196	196	0	strelka-varscan-mutect	TYW1B,missense_variant,p.Gly438Val,ENST00000612372,;	A	ENST00000612372	Transcript	missense_variant	1412/1543	1313/1416	438/471	G/V	gGg/gTg	rs782266913	1		-1	TYW1B	HGNC	HGNC:33908	protein_coding			ENSP00000480534		A0A087WWV6	UPI0004620CFD		deleterious(0.01)		12/12																			MODERATE	1	SNV	1			1										PASS		rs782266913	.												A	3	1	57	72558875	72558875	C	A	1	0	0	0	0	1	0	0	0	17334	623	22	2		2	TYW1B	7	72558875	Missense_Mutation	SNP	C	C3N-00560_TP	6685347	72558875	86787098	504	18443											
WBSCR27	0	.	GRCh38	chr7	73840431	73840431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccttccgggctgggcagaGgctcctggcccagggtgcag	5	7	16	13	1	0	1	0	0	0	1	2	1	2	1	4	5	2	4	4	5	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.371C>T	p.Pro124Leu	p.P124L	ENST00000297873	4/6	210	154	56	194	194	0	strelka-varscan-mutect	WBSCR27,missense_variant,p.Pro124Leu,ENST00000297873,NM_152559.2;WBSCR27,intron_variant,,ENST00000493174,;WBSCR27,intron_variant,,ENST00000458679,;	A	ENST00000297873	Transcript	missense_variant	421/941	371/738	124/245	P/L	cCt/cTt		1		-1	WBSCR27	HGNC	HGNC:19068	protein_coding	YES	CCDS5561.1	ENSP00000297873	Q8N6F8		UPI000013E466	NM_152559.2	tolerated(0.06)		4/6		hmmpanther:PTHR10108,hmmpanther:PTHR10108:SF888,Pfam_domain:PF13649,Gene3D:3.40.50.150,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	73840431	73840431	G	A	1	0	0	0	0	1	0	0	0	17825	1000	35	3		3	WBSCR27	7	73840431	Missense_Mutation	SNP	G	C3N-00560_TP	1281556	73840431	85505542	505	18444											
SPDYE5	0	.	GRCh38	chr7	75494143	75494143	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccagaatgagcagagtccCcagcggagcacctcggggta	10	4	13	14	2	0	3	0	1	0	2	2	4	1	4	5	3	3	3	5	3	2	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.96C>A	p.=	p.P32P	ENST00000625065	1/8	423	285	138	329	328	1	strelka-varscan-mutect	SPDYE5,synonymous_variant,p.=,ENST00000625065,;SPDYE5,synonymous_variant,p.=,ENST00000455862,;SPDYE5,upstream_gene_variant,,ENST00000624640,NM_001099435.2;	A	ENST00000625065	Transcript	synonymous_variant	519/1700	96/1209	32/402	P	ccC/ccA		1		1	SPDYE5	HGNC	HGNC:35464	protein_coding	YES	CCDS78241.1	ENSP00000485398		A0A096LPK5	UPI000387D8EA				1/8		hmmpanther:PTHR31156,hmmpanther:PTHR31156:SF15																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	57	75494143	75494143	C	A	1	0	0	0	0	0	0	0	1	15381	610	22	2		2	SPDYE5	7	75494143	Silent	SNP	C	C3N-00560_TP	1653712	75494143	83851830	506	18445											
HGF	0	.	GRCh38	chr7	81743425	81743425	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccatggcctcggctggcCatcgggattgcggcaataat	8	8	13	12	3	0	0	0	0	0	0	2	1	0	1	3	5	1	3	3	5	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.793G>C	p.Gly265Arg	p.G265R	ENST00000222390	7/18	458	338	120	347	347	0	strelka-varscan-mutect	HGF,missense_variant,p.Gly265Arg,ENST00000222390,NM_000601.4;HGF,missense_variant,p.Gly260Arg,ENST00000457544,NM_001010932.1;HGF,missense_variant,p.Gly265Arg,ENST00000444829,NM_001010931.1;HGF,missense_variant,p.Gly260Arg,ENST00000453411,NM_001010933.1;	G	ENST00000222390	Transcript	missense_variant	1020/5989	793/2187	265/728	G/R	Ggc/Cgc		1		-1	HGF	HGNC	HGNC:4893	protein_coding	YES	CCDS5597.1	ENSP00000222390	P14210		UPI000000D92B	NM_000601.4	deleterious(0.01)		7/18		PROSITE_profiles:PS50070,hmmpanther:PTHR24256:SF190,hmmpanther:PTHR24256,PROSITE_patterns:PS00021,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152,Gene3D:2.40.20.10,Pfam_domain:PF00051,SMART_domains:SM00130,Superfamily_domains:SSF57440,Prints_domain:PR00018																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	81743425	81743425	C	G	1	0	0	0	0	1	0	0	0	6969	594	21	4		4	HGF	7	81743425	Missense_Mutation	SNP	C	C3N-00560_TP	6249282	81743425	77602548	507	18446											
CACNA2D1	0	.	GRCh38	chr7	82014452	82014452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgtcataattgtgttGaccaactgaaaacgtgaata	13	13	7	8	1	2	3	1	3	1	0	3	3	3	3	2	0	2	1	2	0	6	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1171C>A	p.Gln391Lys	p.Q391K	ENST00000356860	13/39	223	170	53	273	272	1	strelka-varscan-mutect	CACNA2D1,missense_variant,p.Gln391Lys,ENST00000356860,NM_000722.3;CACNA2D1,missense_variant,p.Gln391Lys,ENST00000356253,;AC006145.4,intron_variant,,ENST00000439234,;AC006145.4,intron_variant,,ENST00000454066,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000464354,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000492734,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000475237,;CACNA2D1,upstream_gene_variant,,ENST00000466806,;	T	ENST00000356860	Transcript	missense_variant	1510/7563	1171/3276	391/1091	Q/K	Caa/Aaa		1		-1	CACNA2D1	HGNC	HGNC:1399	protein_coding	YES	CCDS5598.1	ENSP00000349320	P54289		UPI00003674CD	NM_000722.3	tolerated(0.06)		13/39		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	82014452	82014452	G	T	1	0	0	0	0	1	0	0	0	2236	1299	45	2		2	CACNA2D1	7	82014452	Missense_Mutation	SNP	G	C3N-00560_TP	271027	82014452	77331521	508	18447											
CACNA2D1	0	.	GRCh38	chr7	82014476	82014476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgaaaacgtgaatacacGtacctggatgaattgaaaaa	19	8	8	6	2	0	4	0	4	0	0	0	5	0	5	1	1	4	1	1	1	9	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1147C>A	p.Arg383Ser	p.R383S	ENST00000356860	13/39	205	150	55	246	246	0	strelka-varscan-mutect	CACNA2D1,missense_variant,p.Arg383Ser,ENST00000356860,NM_000722.3;CACNA2D1,missense_variant,p.Arg383Ser,ENST00000356253,;AC006145.4,intron_variant,,ENST00000439234,;AC006145.4,intron_variant,,ENST00000454066,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000464354,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000492734,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000475237,;CACNA2D1,upstream_gene_variant,,ENST00000466806,;	T	ENST00000356860	Transcript	missense_variant	1486/7563	1147/3276	383/1091	R/S	Cgt/Agt		1		-1	CACNA2D1	HGNC	HGNC:1399	protein_coding	YES	CCDS5598.1	ENSP00000349320	P54289		UPI00003674CD	NM_000722.3	deleterious(0.01)		13/39		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	82014476	82014476	G	T	1	0	0	0	0	1	0	0	0	2236	1159	40	1		1	CACNA2D1	7	82014476	Missense_Mutation	SNP	G	C3N-00560_TP	24	82014476	77331497	509	18448											
KIAA1324L	0	.	GRCh38	chr7	86912076	86912076	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagccagaactcacctcaTgcccacataaactgatattg	14	8	6	13	0	2	2	2	1	0	1	2	3	2	2	3	0	4	0	3	0	4	3	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.2165A>T	p.His722Leu	p.H722L	ENST00000450689	15/22	84	62	22	90	90	0	strelka-varscan-mutect	KIAA1324L,missense_variant,p.His722Leu,ENST00000450689,NM_001142749.2;KIAA1324L,missense_variant,p.His651Leu,ENST00000444627,;KIAA1324L,missense_variant,p.His555Leu,ENST00000416314,NM_152748.3,NM_001291990.1;KIAA1324L,missense_variant,p.His683Leu,ENST00000423294,;KIAA1324L,downstream_gene_variant,,ENST00000490995,;KIAA1324L,downstream_gene_variant,,ENST00000474609,;KIAA1324L,missense_variant,p.His43Leu,ENST00000427812,;KIAA1324L,3_prime_UTR_variant,,ENST00000394714,;KIAA1324L,non_coding_transcript_exon_variant,,ENST00000470853,;	A	ENST00000450689	Transcript	missense_variant	2351/6841	2165/3090	722/1029	H/L	cAt/cTt		1		-1	KIAA1324L	HGNC	HGNC:21945	protein_coding	YES	CCDS47632.1	ENSP00000413445	A8MWY0		UPI000173AA00	NM_001142749.2	tolerated(0.09)		15/22		hmmpanther:PTHR22727:SF3,hmmpanther:PTHR22727,Superfamily_domains:SSF50911																	MODERATE	1	SNV	5			1										PASS		rs1283059824	.												A	3	1	57	86912076	86912076	T	A	1	0	0	0	0	1	0	0	0	8112	1478	51	4		4	KIAA1324L	7	86912076	Missense_Mutation	SNP	T	C3N-00560_TP	4897600	86912076	72433897	510	18449											
DBF4	0	.	GRCh38	chr7	87907836	87907836	+	Frame_Shift_Del	DEL	G	G	-																															gaatgtgacttcaagaatatGgatagtttaccttctggtaa																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1699delG	p.Asp567IlefsTer12	p.D567Ifs*12	ENST00000265728	12/12	127	96	31	148	148	0	sindel-varindel	DBF4,frameshift_variant,p.Asp567IlefsTer12,ENST00000265728,NM_006716.3;DBF4,3_prime_UTR_variant,,ENST00000413643,;DBF4,3_prime_UTR_variant,,ENST00000431138,;DBF4,downstream_gene_variant,,ENST00000430279,;DBF4,downstream_gene_variant,,ENST00000498144,;	-	ENST00000265728	Transcript	frameshift_variant	2202/3907	1698/2025	566/674	M/X	atG/at		1		1	DBF4	HGNC	HGNC:17364	protein_coding	YES	CCDS5611.1	ENSP00000265728	Q9UBU7		UPI000000DC33	NM_006716.3			12/12		hmmpanther:PTHR15375																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	57	87907836	87907836	G	-	1	0	1	0	1	0	0	0	0	4048	1348	47	0		0	DBF4	7	87907836	Frame_Shift_Del	DEL	G	C3N-00560_TP	995760	87907836	71438137	511	18450	392	2									
DBF4	0	.	GRCh38	chr7	87907837	87907837	+	Missense_Mutation	SNP	G	G	T																															aatgtgacttcaagaatatgGatagtttaccttctggtaaa																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1699G>T	p.Asp567Tyr	p.D567Y	ENST00000265728	12/12	144	111	33	149	149	0	strelka-mutect	DBF4,missense_variant,p.Asp567Tyr,ENST00000265728,NM_006716.3;DBF4,3_prime_UTR_variant,,ENST00000413643,;DBF4,3_prime_UTR_variant,,ENST00000431138,;DBF4,downstream_gene_variant,,ENST00000430279,;DBF4,downstream_gene_variant,,ENST00000498144,;	T	ENST00000265728	Transcript	missense_variant	2203/3907	1699/2025	567/674	D/Y	Gat/Tat		1		1	DBF4	HGNC	HGNC:17364	protein_coding	YES	CCDS5611.1	ENSP00000265728	Q9UBU7		UPI000000DC33	NM_006716.3	deleterious(0.03)		12/12		hmmpanther:PTHR15375																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	87907837	87907837	G	T	1	0	0	0	0	1	0	0	0	4048	1174	41	2		2	DBF4	7	87907837	Missense_Mutation	SNP	G	C3N-00560_TP	1	87907837	71438136	512	18451	392	2									
CFAP69	0	.	GRCh38	chr7	90271594	90271594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggattagcaaaaacaatgGtccagtcaatgaccttgctt	14	10	9	8	0	1	1	1	1	0	0	2	3	2	2	2	2	3	2	2	2	5	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.601G>T	p.Val201Phe	p.V201F	ENST00000389297	7/23	194	143	51	187	187	0	strelka-varscan-mutect	CFAP69,missense_variant,p.Val201Phe,ENST00000389297,NM_001039706.2;CFAP69,missense_variant,p.Val183Phe,ENST00000497910,NM_001160138.1;CFAP69,missense_variant,p.Val141Phe,ENST00000457170,;CFAP69,missense_variant,p.Val3Phe,ENST00000418199,;AC002064.4,upstream_gene_variant,,ENST00000420245,;CFAP69,non_coding_transcript_exon_variant,,ENST00000463311,;CFAP69,missense_variant,p.Val201Phe,ENST00000451029,;CFAP69,3_prime_UTR_variant,,ENST00000427396,;CFAP69,upstream_gene_variant,,ENST00000475031,;	T	ENST00000389297	Transcript	missense_variant	852/3902	601/2826	201/941	V/F	Gtc/Ttc		1		1	CFAP69	HGNC	HGNC:26107	protein_coding	YES	CCDS43613.2	ENSP00000373948	A5D8W1		UPI000066DA29	NM_001039706.2	deleterious(0)		7/23		hmmpanther:PTHR14716:SF0,hmmpanther:PTHR14716,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	90271594	90271594	G	T	1	0	0	0	0	1	0	0	0	3030	1261	44	2		2	CFAP69	7	90271594	Missense_Mutation	SNP	G	C3N-00560_TP	2363757	90271594	69074379	513	18452											
CFAP69	0	.	GRCh38	chr7	90310067	90310067	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttaccttttgcctttttaGgtgccctctggtggagtagt	5	18	10	8	0	1	0	0	0	1	0	1	1	1	1	3	3	3	1	3	3	3	8	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2656-1G>T		p.X886_splice	ENST00000389297		127	76	51	108	108	0	strelka-varscan-mutect	CFAP69,splice_acceptor_variant,,ENST00000389297,NM_001039706.2;CFAP69,splice_acceptor_variant,,ENST00000497910,NM_001160138.1;CFAP69,splice_acceptor_variant,,ENST00000449577,;CFAP69,splice_acceptor_variant,,ENST00000445156,;CFAP69,splice_acceptor_variant,,ENST00000412839,;AC002064.5,upstream_gene_variant,,ENST00000445784,;CFAP69,splice_acceptor_variant,,ENST00000475031,;CFAP69,downstream_gene_variant,,ENST00000427396,;	T	ENST00000389297	Transcript	splice_acceptor_variant	-/3902	2656/2826	886/941				1		1	CFAP69	HGNC	HGNC:26107	protein_coding	YES	CCDS43613.2	ENSP00000373948	A5D8W1		UPI000066DA29	NM_001039706.2				22/22																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	57	90310067	90310067	G	T	1	0	0	0	0	0	0	1	0	3030	1014	35	2		2	CFAP69	7	90310067	Splice_Site	SNP	G	C3N-00560_TP	38473	90310067	69035906	514	18453											
AKAP9	0	.	GRCh38	chr7	92002054	92002054	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagtctcttgtaaattcaAagtcagaagaaatgactctt	15	12	7	7	0	4	3	2	1	2	2	5	3	4	3	0	0	1	2	0	0	5	4			C3N-00560_TP	C3N-00560_NB	A	A																c.2137A>T	p.Lys713Ter	p.K713*	ENST00000356239	8/50	46	32	14	103	103	0	strelka-varscan-mutect	AKAP9,stop_gained,p.Lys713Ter,ENST00000356239,NM_005751.4,NM_147185.2;AKAP9,stop_gained,p.Lys724Ter,ENST00000359028,;AKAP9,stop_gained,p.Lys713Ter,ENST00000358100,;AKAP9,stop_gained,p.Lys721Ter,ENST00000619023,;AKAP9,non_coding_transcript_exon_variant,,ENST00000493453,;	T	ENST00000356239	Transcript	stop_gained	2370/12471	2137/11724	713/3907	K/*	Aag/Tag	COSM338037,COSM338038	1		1	AKAP9	HGNC	HGNC:379	protein_coding	YES	CCDS5622.1	ENSP00000348573	Q99996		UPI000002A38D	NM_005751.4,NM_147185.2			8/50													1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												T	4	4	57	92002054	92002054	A	T	1	0	0	0	0	0	1	0	0	543	15	1	4		4	AKAP9	7	92002054	Nonsense_Mutation	SNP	A	C3N-00560_TP	1691987	92002054	67343919	515	18454											
CYP51A1	0	.	GRCh38	chr7	92131800	92131800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatgcattttctagaaattCaattggacttttcccaaatg	13	16	5	7	0	2	1	1	0	1	1	3	2	3	2	1	1	1	1	1	1	5	8			C3N-00560_TP	C3N-00560_NB	C	C																c.265G>A	p.Glu89Lys	p.E89K	ENST00000003100	2/10	105	71	34	129	128	1	strelka-varscan-mutect	CYP51A1,missense_variant,p.Glu89Lys,ENST00000003100,NM_000786.3;CYP51A1,5_prime_UTR_variant,,ENST00000450723,NM_001146152.1;CYP51A1,downstream_gene_variant,,ENST00000435873,;CYP51A1-AS1,upstream_gene_variant,,ENST00000453068,;LRRD1,non_coding_transcript_exon_variant,,ENST00000422722,;	T	ENST00000003100	Transcript	missense_variant	431/3210	265/1530	89/509	E/K	Gaa/Aaa	COSM1092997	1		-1	CYP51A1	HGNC	HGNC:2649	protein_coding	YES	CCDS5623.1	ENSP00000003100		A0A0C4DFL7	UPI000013C4D5	NM_000786.3	tolerated(0.4)		2/10		hmmpanther:PTHR24286:SF24,hmmpanther:PTHR24286,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00465											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	57	92131800	92131800	C	T	1	0	0	0	0	1	0	0	0	3998	835	29	3		3	CYP51A1	7	92131800	Missense_Mutation	SNP	C	C3N-00560_TP	129746	92131800	67214173	516	18455											
PEX1	0	.	GRCh38	chr7	92517352	92517352	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattcttcaagtccattcCagactacttgtagcacacag	12	12	5	12	0	3	1	2	0	1	1	5	1	5	1	2	0	2	2	2	0	4	6	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1163G>T	p.Trp388Leu	p.W388L	ENST00000248633	5/24	210	164	46	226	225	1	strelka-varscan-mutect	PEX1,missense_variant,p.Trp388Leu,ENST00000248633,NM_000466.2;PEX1,missense_variant,p.Trp388Leu,ENST00000428214,NM_001282677.1;PEX1,intron_variant,,ENST00000438045,NM_001282678.1;PEX1,missense_variant,p.Trp22Leu,ENST00000422866,;PEX1,non_coding_transcript_exon_variant,,ENST00000484913,;PEX1,upstream_gene_variant,,ENST00000476923,;	A	ENST00000248633	Transcript	missense_variant	1259/4385	1163/3852	388/1283	W/L	tGg/tTg		1		-1	PEX1	HGNC	HGNC:8850	protein_coding	YES	CCDS5627.1	ENSP00000248633	O43933		UPI0000001C39	NM_000466.2	tolerated(0.11)		5/24		hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	92517352	92517352	C	A	1	0	0	0	0	1	0	0	0	11825	595	21	2		2	PEX1	7	92517352	Missense_Mutation	SNP	C	C3N-00560_TP	385552	92517352	66828621	517	18456											
COL1A2	0	.	GRCh38	chr7	94430312	94430312	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataagccatcacgcctgccCttccttgatattgcaccttt	9	13	5	14	1	1	1	1	1	0	0	2	1	2	1	5	0	3	1	5	0	3	6	rs138451009		C3N-00560_TP	C3N-00560_NB	C	C																c.4020C>T	p.=	p.P1340P	ENST00000297268	52/52	357	273	84	306	306	0	strelka-varscan-mutect	COL1A2,synonymous_variant,p.=,ENST00000297268,NM_000089.3;COL1A2,synonymous_variant,p.=,ENST00000620463,;COL1A2,non_coding_transcript_exon_variant,,ENST00000481570,;COL1A2,non_coding_transcript_exon_variant,,ENST00000464916,;COL1A2,downstream_gene_variant,,ENST00000478215,;COL1A2,downstream_gene_variant,,ENST00000469732,;COL1A2,downstream_gene_variant,,ENST00000492110,;COL1A2,downstream_gene_variant,,ENST00000488121,;	T	ENST00000297268	Transcript	synonymous_variant	4491/5411	4020/4101	1340/1366	P	ccC/ccT	rs138451009	1		1	COL1A2	HGNC	HGNC:2198	protein_coding	YES	CCDS34682.1	ENSP00000297268	P08123	A0A0S2Z3H5	UPI00003B0CFC	NM_000089.3			52/52		PD002078,Pfam_domain:PF01410,PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF568,SMART_domains:SM00038																	LOW	1	SNV	1			1										PASS		rs138451009	.												T	2	4	57	94430312	94430312	C	T	1	0	0	0	0	0	0	0	1	3466	668	24	3		3	COL1A2	7	94430312	Silent	SNP	C	C3N-00560_TP	1912960	94430312	64915661	518	18457											
LMTK2	0	.	GRCh38	chr7	98191927	98191927	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagcacgaccactttgacGagcgcagccggggccacctg	9	5	12	15	4	0	1	0	1	0	0	0	3	0	1	4	2	3	2	4	2	1	2	rs756530538		C3N-00560_TP	C3N-00560_NB	G	G																c.1462G>T	p.Glu488Ter	p.E488*	ENST00000297293	11/14	292	227	65	274	274	0	strelka-varscan-mutect	LMTK2,stop_gained,p.Glu488Ter,ENST00000297293,NM_014916.3;	T	ENST00000297293	Transcript	stop_gained	1755/8946	1462/4512	488/1503	E/*	Gag/Tag	rs756530538	1		1	LMTK2	HGNC	HGNC:17880	protein_coding	YES	CCDS5654.1	ENSP00000297293	Q8IWU2		UPI000014F277	NM_014916.3			11/14		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF357																	HIGH	1	SNV	1			1										PASS		rs756530538	.												T	4	4	57	98191927	98191927	G	T	1	0	0	0	0	0	1	0	0	8786	1059	37	1		1	LMTK2	7	98191927	Nonsense_Mutation	SNP	G	C3N-00560_TP	3761615	98191927	61154046	519	18458											
OR2AE1	0	.	GRCh38	chr7	99876800	99876800	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagttggtagccatcttcagGatgattgtggagacatgcat	10	13	12	6	0	2	2	1	1	1	1	2	4	2	3	1	3	2	3	1	3	2	5			C3N-00560_TP	C3N-00560_NB	G	G																c.234C>A	p.=	p.I78I	ENST00000316368	1/1	253	175	78	213	213	0	strelka-varscan-mutect	OR2AE1,synonymous_variant,p.=,ENST00000316368,NM_001005276.1;TRIM4,downstream_gene_variant,,ENST00000447480,;CYP3A52P,downstream_gene_variant,,ENST00000563326,;	T	ENST00000316368	Transcript	synonymous_variant	258/1071	234/972	78/323	I	atC/atA	COSM377294	1		-1	OR2AE1	HGNC	HGNC:15087	protein_coding	YES	CCDS34696.1	ENSP00000313936	Q8NHA4		UPI000004B1E7	NM_001005276.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF196,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	57	99876800	99876800	G	T	1	0	0	0	0	0	0	0	1	11060	1164	41	2		2	OR2AE1	7	99876800	Silent	SNP	G	C3N-00560_TP	1684873	99876800	59469173	520	18459											
NYAP1	0	.	GRCh38	chr7	100491059	100491059	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtcgtgctccacacaccCcggccctgcagccagcccag	7	4	10	20	2	0	0	0	0	0	0	2	0	1	0	6	2	4	2	6	2	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2232C>T	p.=	p.P744P	ENST00000300179	6/7	192	127	65	144	144	0	strelka-varscan-mutect	NYAP1,synonymous_variant,p.=,ENST00000300179,NM_173564.3;NYAP1,synonymous_variant,p.=,ENST00000454988,;NYAP1,non_coding_transcript_exon_variant,,ENST00000496985,;NYAP1,non_coding_transcript_exon_variant,,ENST00000489641,;	T	ENST00000300179	Transcript	synonymous_variant	2391/3581	2232/2526	744/841	P	ccC/ccT		1		1	NYAP1	HGNC	HGNC:22009	protein_coding	YES	CCDS5696.1	ENSP00000300179	Q6ZVC0		UPI00001C0A2E	NM_173564.3			6/7		Pfam_domain:PF15452,hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF2																	LOW	1	SNV	2			1										PASS		rs1383745759	.												T	2	4	57	100491059	100491059	C	T	1	0	0	0	0	0	0	0	1	10872	610	22	3		3	NYAP1	7	100491059	Silent	SNP	C	C3N-00560_TP	614259	100491059	58854914	521	18460											
EPHB4	0	.	GRCh38	chr7	100818556	100818556	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctcgtagtccagcacagcCccactgggtgcccggggaac	8	5	12	16	2	0	0	0	0	0	0	2	1	1	1	5	3	4	2	5	3	2	1	rs776463916		C3N-00560_TP	C3N-00560_NB	C	C																c.1386G>T	p.=	p.G462G	ENST00000358173	7/17	300	215	85	215	215	0	strelka-varscan-mutect	EPHB4,synonymous_variant,p.=,ENST00000358173,NM_004444.4;EPHB4,synonymous_variant,p.=,ENST00000360620,;EPHB4,intron_variant,,ENST00000616502,;RN7SL750P,downstream_gene_variant,,ENST00000582814,;EPHB4,non_coding_transcript_exon_variant,,ENST00000477446,;EPHB4,intron_variant,,ENST00000489808,;EPHB4,non_coding_transcript_exon_variant,,ENST00000487222,;EPHB4,non_coding_transcript_exon_variant,,ENST00000492878,;EPHB4,upstream_gene_variant,,ENST00000478459,;	A	ENST00000358173	Transcript	synonymous_variant	1855/4329	1386/2964	462/987	G	ggG/ggT	rs776463916	1		-1	EPHB4	HGNC	HGNC:3395	protein_coding	YES	CCDS5706.1	ENSP00000350896	P54760	Q541P7	UPI0000000DBB	NM_004444.4			7/17		Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF296,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		rs776463916	.												A	2	1	57	100818556	100818556	C	A	1	0	0	0	0	0	0	0	1	5024	610	22	2		2	EPHB4	7	100818556	Silent	SNP	C	C3N-00560_TP	327497	100818556	58527417	522	18461											
ACHE	0	.	GRCh38	chr7	100892524	100892524	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagacgtaggcgtagacccGggcaccctgggcagccagtc	10	4	14	13	3	0	2	0	0	0	2	1	2	0	2	3	3	1	4	3	3	3	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1363C>A	p.=	p.R455R	ENST00000302913	3/5	79	56	23	52	52	0	strelka-varscan-mutect	ACHE,synonymous_variant,p.=,ENST00000302913,NM_015831.2;ACHE,synonymous_variant,p.=,ENST00000412389,;ACHE,synonymous_variant,p.=,ENST00000411582,NM_001302621.1;ACHE,synonymous_variant,p.=,ENST00000241069,NM_000665.4;ACHE,synonymous_variant,p.=,ENST00000428317,NM_001302622.1;ACHE,synonymous_variant,p.=,ENST00000419336,NM_001282449.1;ACHE,intron_variant,,ENST00000430554,;ACHE,intron_variant,,ENST00000426415,;SRRT,downstream_gene_variant,,ENST00000614484,NM_001128852.1;SRRT,downstream_gene_variant,,ENST00000618262,NM_001128853.1;SRRT,downstream_gene_variant,,ENST00000611405,NM_015908.5;SRRT,downstream_gene_variant,,ENST00000618411,NM_001128854.1;SRRT,downstream_gene_variant,,ENST00000448764,;UFSP1,upstream_gene_variant,,ENST00000388761,NM_001015072.3;ACHE,downstream_gene_variant,,ENST00000441605,;ACHE,downstream_gene_variant,,ENST00000445236,;ACHE,downstream_gene_variant,,ENST00000619863,;ACHE,3_prime_UTR_variant,,ENST00000442452,;ACHE,intron_variant,,ENST00000454485,;ACHE,intron_variant,,ENST00000440755,;SRRT,downstream_gene_variant,,ENST00000478693,;SRRT,downstream_gene_variant,,ENST00000477529,;SRRT,downstream_gene_variant,,ENST00000445337,;	T	ENST00000302913	Transcript	synonymous_variant	1502/2956	1363/1854	455/617	R	Cgg/Agg		1		-1	ACHE	HGNC	HGNC:108	protein_coding	YES	CCDS5710.1	ENSP00000303211	P22303		UPI0000140DF0	NM_015831.2			3/5		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF154,Low_complexity_(Seg):seg,Superfamily_domains:SSF53474																	LOW	1	SNV	1			1										PASS		rs1296445238	.												T	2	4	57	100892524	100892524	G	T	1	0	0	0	0	0	0	0	1	179	1115	39	1		1	ACHE	7	100892524	Silent	SNP	G	C3N-00560_TP	73968	100892524	58453449	523	18462											
ACHE	0	.	GRCh38	chr7	100894075	100894075	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcccccgggggtcttcAggcgaatgccccgcagccgg	5	4	16	16	4	2	0	1	0	1	0	2	1	2	0	5	5	2	1	5	5	1	1	rs747647567		C3N-00560_TP	C3N-00560_NB	A	A																c.158T>A	p.Leu53Gln	p.L53Q	ENST00000302913	2/5	44	32	12	57	56	1	strelka-varscan-mutect	ACHE,missense_variant,p.Leu53Gln,ENST00000302913,NM_015831.2;ACHE,missense_variant,p.Leu53Gln,ENST00000412389,;ACHE,missense_variant,p.Leu53Gln,ENST00000411582,NM_001302621.1;ACHE,missense_variant,p.Leu53Gln,ENST00000241069,NM_000665.4;ACHE,missense_variant,p.Leu53Gln,ENST00000428317,NM_001302622.1;ACHE,missense_variant,p.Leu53Gln,ENST00000419336,NM_001282449.1;ACHE,missense_variant,p.Leu53Gln,ENST00000430554,;ACHE,missense_variant,p.Leu53Gln,ENST00000426415,;ACHE,missense_variant,p.Leu53Gln,ENST00000441605,;UFSP1,upstream_gene_variant,,ENST00000388761,NM_001015072.3;ACHE,downstream_gene_variant,,ENST00000445236,;ACHE,downstream_gene_variant,,ENST00000619863,;ACHE,missense_variant,p.Leu53Gln,ENST00000454485,;ACHE,missense_variant,p.Leu53Gln,ENST00000440755,;ACHE,intron_variant,,ENST00000442452,;	T	ENST00000302913	Transcript	missense_variant	297/2956	158/1854	53/617	L/Q	cTg/cAg	rs747647567	1		-1	ACHE	HGNC	HGNC:108	protein_coding	YES	CCDS5710.1	ENSP00000303211	P22303		UPI0000140DF0	NM_015831.2	deleterious(0.03)		2/5		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF154,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		rs747647567	.												T	3	4	57	100894075	100894075	A	T	1	0	0	0	0	1	0	0	0	179	188	7	4		4	ACHE	7	100894075	Missense_Mutation	SNP	A	C3N-00560_TP	1551	100894075	58451898	524	18463											
MUC3A	0	.	GRCh38	chr7	100957901	100957901	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccacatcccatagtactcCcagcttcacttcttcgatca	10	11	4	16	1	3	0	2	0	1	0	6	2	5	0	3	0	2	2	3	0	2	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.6122C>A	p.Pro2041His	p.P2041H	ENST00000379458	2/12	126	98	28	126	126	0	strelka-varscan-mutect	MUC3A,missense_variant,p.Pro2041His,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Pro2041His,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000414964,;	A	ENST00000379458	Transcript	missense_variant	6192/11226	6122/9972	2041/3323	P/H	cCc/cAc		1		1	MUC3A	HGNC	HGNC:7513	protein_coding	YES	CCDS78262.1	ENSP00000368771	Q02505		UPI000455B941	NM_005960.1	deleterious_low_confidence(0)		2/12		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs971092157	.												A	3	1	57	100957901	100957901	C	A	1	0	0	0	0	1	0	0	0	9976	623	22	2		2	MUC3A	7	100957901	Missense_Mutation	SNP	C	C3N-00560_TP	63826	100957901	58388072	525	18464											
MUC3A	0	.	GRCh38	chr7	100958871	100958871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacttcttcgatcaccacCaccgagaccacctcacacag	11	8	4	18	2	4	1	3	0	1	1	5	3	4	1	5	0	0	0	5	0	0	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.7092C>T	p.=	p.T2364T	ENST00000379458	2/12	770	644	126	703	703	0	strelka-varscan-mutect	MUC3A,synonymous_variant,p.=,ENST00000379458,NM_005960.1;MUC3A,synonymous_variant,p.=,ENST00000483366,;RP11-395B7.2,downstream_gene_variant,,ENST00000618276,;RP11-395B7.2,downstream_gene_variant,,ENST00000610769,;MUC3A,synonymous_variant,p.=,ENST00000414964,;	T	ENST00000379458	Transcript	synonymous_variant	7162/11226	7092/9972	2364/3323	T	acC/acT		1		1	MUC3A	HGNC	HGNC:7513	protein_coding	YES	CCDS78262.1	ENSP00000368771	Q02505		UPI000455B941	NM_005960.1			2/12		hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22,Low_complexity_(Seg):seg																	LOW		SNV	5			1										PASS		.	.												T	2	4	57	100958871	100958871	C	T	1	0	0	0	0	0	0	0	1	9976	581	21	3		3	MUC3A	7	100958871	Silent	SNP	C	C3N-00560_TP	970	100958871	58387102	526	18465											
MUC12	0	.	GRCh38	chr7	100999151	100999151	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctacactagccccagatCaccagatgcaacactctcac	12	8	4	17	0	3	2	2	0	2	2	4	2	3	2	3	0	4	1	3	0	3	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.8588C>G	p.Ser2863Ter	p.S2863*	ENST00000536621	2/12	1510	1400	110	1333	1333	0	varscan-mutect	MUC12,stop_gained,p.Ser3006Ter,ENST00000379442,;MUC12,stop_gained,p.Ser2863Ter,ENST00000536621,NM_001164462.1;	G	ENST00000536621	Transcript	stop_gained	8588/16321	8588/16008	2863/5335	S/*	tCa/tGa		1		1	MUC12	HGNC	HGNC:7510	protein_coding	YES	CCDS55139.1	ENSP00000441929	Q9UKN1		UPI0001B25898	NM_001164462.1			2/12																			HIGH	1	SNV	5			1										PASS		.	.												G	4	3	57	100999151	100999151	C	G	1	0	0	0	0	0	1	0	0	9969	838	29	4		4	MUC12	7	100999151	Nonsense_Mutation	SNP	C	C3N-00560_TP	40280	100999151	58346822	527	18466											
MUC17	0	.	GRCh38	chr7	101038010	101038010	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaccaattctactgaagcCcgttcatctcctacaacttc	10	12	5	14	1	3	2	1	2	2	0	5	2	3	2	3	0	4	1	3	0	5	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.6594C>A	p.=	p.A2198A	ENST00000306151	3/13	149	107	42	100	100	0	strelka-varscan-mutect	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,synonymous_variant,p.=,ENST00000379439,;	A	ENST00000306151	Transcript	synonymous_variant	6658/14247	6594/13482	2198/4493	A	gcC/gcA		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1			3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	101038010	101038010	C	A	1	0	0	0	0	0	0	0	1	9973	610	22	2		2	MUC17	7	101038010	Silent	SNP	C	C3N-00560_TP	38859	101038010	58307963	528	18467											
MUC17	0	.	GRCh38	chr7	101043604	101043604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattacttctcacaccatccCacctacatttcctcctgctc	9	13	1	18	0	1	0	1	0	1	0	6	0	4	0	5	0	3	1	5	0	3	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.12188C>A	p.Pro4063Gln	p.P4063Q	ENST00000306151	3/13	189	128	61	151	151	0	strelka-varscan-mutect	MUC17,missense_variant,p.Pro4063Gln,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Pro4063Gln,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	A	ENST00000306151	Transcript	missense_variant	12252/14247	12188/13482	4063/4493	P/Q	cCa/cAa		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	deleterious(0.01)		3/13		Low_complexity_(Seg):seg,hmmpanther:PTHR37999:SF1,hmmpanther:PTHR37999																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	101043604	101043604	C	A	1	0	0	0	0	1	0	0	0	9973	594	21	2		2	MUC17	7	101043604	Missense_Mutation	SNP	C	C3N-00560_TP	5594	101043604	58302369	529	18468											
CUX1	0	.	GRCh38	chr7	102248567	102248567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaggccactgagggcccagGcagcgccgacaccgaggagc	9	1	17	14	3	0	1	0	1	0	0	0	5	0	3	4	5	2	1	4	5	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4076G>T	p.Gly1359Val	p.G1359V	ENST00000360264	24/24	245	176	69	147	147	0	strelka-varscan-mutect	CUX1,missense_variant,p.Gly1359Val,ENST00000360264,NM_001202543.1;CUX1,missense_variant,p.Gly1348Val,ENST00000292535,NM_181552.3;CUX1,missense_variant,p.Gly1326Val,ENST00000549414,;CUX1,missense_variant,p.Gly1292Val,ENST00000550008,;CUX1,missense_variant,p.Gly1246Val,ENST00000546411,;CUX1,missense_variant,p.Gly1190Val,ENST00000556210,;CUX1,intron_variant,,ENST00000437600,NM_001913.4;CUX1,intron_variant,,ENST00000622516,NM_181500.3;CUX1,intron_variant,,ENST00000292538,;CUX1,intron_variant,,ENST00000547394,NM_001202544.2;CUX1,intron_variant,,ENST00000425244,NM_001202545.2;CUX1,intron_variant,,ENST00000393824,NM_001202546.2;CUX1,intron_variant,,ENST00000560541,;CUX1,intron_variant,,ENST00000558836,;	T	ENST00000360264	Transcript	missense_variant	4096/13762	4076/4551	1359/1516	G/V	gGc/gTc		1		1	CUX1	HGNC	HGNC:2557	protein_coding	YES	CCDS56498.1	ENSP00000353401	P39880		UPI00001AEB98	NM_001202543.1	tolerated(0.2)		24/24		hmmpanther:PTHR14043:SF4,hmmpanther:PTHR14043																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	102248567	102248567	G	T	1	0	0	0	0	1	0	0	0	3874	1203	42	2		2	CUX1	7	102248567	Missense_Mutation	SNP	G	C3N-00560_TP	1204963	102248567	57097406	530	18469											
PSMC2	0	.	GRCh38	chr7	103366117	103366117	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgaaatggccagaacAaaaaaagcctgccttatctt	14	11	6	10	0	2	2	0	1	2	1	2	2	2	2	3	1	3	0	3	1	6	3			C3N-00560_TP	C3N-00560_NB	A	A																c.798A>T	p.=	p.T266T	ENST00000435765	10/13	152	109	43	167	167	0	strelka-varscan-mutect	PSMC2,synonymous_variant,p.=,ENST00000435765,;PSMC2,synonymous_variant,p.=,ENST00000292644,NM_002803.3;SLC26A5,intron_variant,,ENST00000339444,NM_206883.2;SLC26A5,intron_variant,,ENST00000393735,NM_206884.2;SLC26A5,intron_variant,,ENST00000356767,NM_206885.2;PSMC2,downstream_gene_variant,,ENST00000457587,;PSMC2,downstream_gene_variant,,ENST00000425206,NM_001204453.1;PSMC2,downstream_gene_variant,,ENST00000460021,;	T	ENST00000435765	Transcript	synonymous_variant	1209/3054	798/1302	266/433	T	acA/acT	COSM3083863	1		1	PSMC2	HGNC	HGNC:9548	protein_coding	YES	CCDS5731.1	ENSP00000391211	P35998	A0A140VK70	UPI000013237A				10/13		hmmpanther:PTHR23073,TIGRFAM_domain:TIGR01242,Pfam_domain:PF00004,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540											1						LOW	1	SNV	5		1	1										PASS		rs1429473692	.												T	2	4	57	103366117	103366117	A	T	1	0	0	0	0	0	0	0	1	12837	117	5	4		4	PSMC2	7	103366117	Silent	SNP	A	C3N-00560_TP	1117550	103366117	55979856	531	18470											
SLC26A5	0	.	GRCh38	chr7	103413066	103413066	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagggtaaaatgaagagtaCaggccaaatattggaggcac	17	6	12	6	0	0	2	0	1	0	1	0	3	0	3	1	4	1	3	1	4	6	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.339G>T	p.=	p.L113L	ENST00000306312	5/20	388	269	119	337	337	0	strelka-varscan-mutect	SLC26A5,synonymous_variant,p.=,ENST00000306312,NM_198999.2;SLC26A5,synonymous_variant,p.=,ENST00000354356,;SLC26A5,synonymous_variant,p.=,ENST00000432958,NM_001167962.1;SLC26A5,synonymous_variant,p.=,ENST00000393730,;SLC26A5,synonymous_variant,p.=,ENST00000339444,NM_206883.2;SLC26A5,synonymous_variant,p.=,ENST00000393727,;SLC26A5,synonymous_variant,p.=,ENST00000393723,;SLC26A5,synonymous_variant,p.=,ENST00000393735,NM_206884.2;SLC26A5,synonymous_variant,p.=,ENST00000356767,NM_206885.2;SLC26A5,intron_variant,,ENST00000393729,;SLC26A5,synonymous_variant,p.=,ENST00000423416,;SLC26A5,synonymous_variant,p.=,ENST00000445809,;SLC26A5,synonymous_variant,p.=,ENST00000454864,;SLC26A5,intron_variant,,ENST00000456463,;SLC26A5,intron_variant,,ENST00000487407,;	A	ENST00000306312	Transcript	synonymous_variant	601/2689	339/2235	113/744	L	ctG/ctT		1		-1	SLC26A5	HGNC	HGNC:9359	protein_coding	YES	CCDS5733.1	ENSP00000304783	P58743		UPI0000132195	NM_198999.2			5/20		Transmembrane_helices:TMhelix,hmmpanther:PTHR11814:SF32,hmmpanther:PTHR11814,PROSITE_patterns:PS01130,TIGRFAM_domain:TIGR00815,Pfam_domain:PF00916																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	103413066	103413066	C	A	1	0	0	0	0	0	0	0	1	14790	465	17	2		2	SLC26A5	7	103413066	Silent	SNP	C	C3N-00560_TP	46949	103413066	55932907	532	18471											
SLC26A3	0	.	GRCh38	chr7	107783353	107783353	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtaatagggggctgaaatCtaaaattgaaattaagcaag	17	10	11	3	0	1	2	0	2	1	0	1	2	1	2	0	2	1	3	0	2	8	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.972-1G>A		p.X324_splice	ENST00000340010		274	182	92	262	262	0	strelka-varscan-mutect	SLC26A3,splice_acceptor_variant,,ENST00000340010,NM_000111.2;SLC26A3,splice_acceptor_variant,,ENST00000379083,;SLC26A3,splice_acceptor_variant,,ENST00000468551,;	T	ENST00000340010	Transcript	splice_acceptor_variant	-/2863	972/2295	324/764				1		-1	SLC26A3	HGNC	HGNC:3018	protein_coding	YES	CCDS5748.1	ENSP00000345873	P40879		UPI000000128C	NM_000111.2				8/20																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	57	107783353	107783353	C	T	1	0	0	0	0	0	0	1	0	14788	927	32	3		3	SLC26A3	7	107783353	Splice_Site	SNP	C	C3N-00560_TP	4370287	107783353	51562620	533	18472											
LAMB4	0	.	GRCh38	chr7	108057843	108057843	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatacttacgaatgcatcgcCcaggtggatcaccataataa	15	9	7	10	2	1	0	1	0	0	0	2	2	1	1	2	2	3	1	2	2	6	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3368G>T	p.Gly1123Val	p.G1123V	ENST00000388781	24/34	220	144	76	181	181	0	strelka-varscan-mutect	LAMB4,missense_variant,p.Gly1123Val,ENST00000388781,NM_007356.2;LAMB4,missense_variant,p.Gly1123Val,ENST00000205386,NM_001318046.1;LAMB4,missense_variant,p.Gly149Val,ENST00000422975,;LAMB4,downstream_gene_variant,,ENST00000475469,;LAMB4,downstream_gene_variant,,ENST00000471677,;	A	ENST00000388781	Transcript	missense_variant	3452/5858	3368/5286	1123/1761	G/V	gGg/gTg		1		-1	LAMB4	HGNC	HGNC:6491	protein_coding	YES	CCDS34732.1	ENSP00000373433	A4D0S4		UPI0000198CD5	NM_007356.2	tolerated(0.51)		24/34		Gene3D:2.10.25.10,Prints_domain:PR00011,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF279,SMART_domains:SM00180																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	108057843	108057843	C	A	1	0	0	0	0	1	0	0	0	8517	623	22	2		2	LAMB4	7	108057843	Missense_Mutation	SNP	C	C3N-00560_TP	274490	108057843	51288130	534	18473											
GPR85	0	.	GRCh38	chr7	113083824	113083824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataacaggccaccaggtaggGgccccacaaggttagaaaca	15	4	11	11	0	0	1	0	0	0	1	0	1	0	1	4	5	2	2	4	5	5	3			C3N-00560_TP	C3N-00560_NB	G	G																c.898C>A	p.Pro300Thr	p.P300T	ENST00000297146	3/3	204	135	69	175	175	0	strelka-varscan-mutect	GPR85,missense_variant,p.Pro300Thr,ENST00000297146,NM_001146265.1,NM_018970.6;GPR85,missense_variant,p.Pro300Thr,ENST00000424100,NM_001146267.1;GPR85,missense_variant,p.Pro300Thr,ENST00000449591,NM_001146266.1;GPR85,downstream_gene_variant,,ENST00000438062,;GPR85,downstream_gene_variant,,ENST00000449735,;GPR85,downstream_gene_variant,,ENST00000487573,;GPR85,missense_variant,p.Pro300Thr,ENST00000610164,;	T	ENST00000297146	Transcript	missense_variant	1502/5079	898/1113	300/370	P/T	Ccc/Acc	COSM3928758,COSM598655	1		-1	GPR85	HGNC	HGNC:4536	protein_coding	YES	CCDS5758.1	ENSP00000297146	P60893	A4D0T8	UPI0000004048	NM_001146265.1,NM_018970.6	deleterious(0)		3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	57	113083824	113083824	G	T	1	0	0	0	0	1	0	0	0	6596	1232	43	2		2	GPR85	7	113083824	Missense_Mutation	SNP	G	C3N-00560_TP	5025981	113083824	46262149	535	18474											
ST7	0	.	GRCh38	chr7	117129830	117129830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatccactaaatttatttagGggtgctgaatacaatcggta	14	13	8	6	1	0	1	0	1	0	0	2	1	1	1	1	3	2	2	1	3	9	7	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.432G>C	p.Arg144Ser	p.R144S	ENST00000265437	4/16	302	246	56	215	214	1	strelka-varscan-mutect	ST7,missense_variant,p.Arg144Ser,ENST00000265437,NM_021908.2;ST7,missense_variant,p.Arg94Ser,ENST00000393443,;ST7,missense_variant,p.Arg101Ser,ENST00000393447,;ST7,missense_variant,p.Arg101Ser,ENST00000465133,;ST7,missense_variant,p.Arg144Ser,ENST00000323984,;ST7,missense_variant,p.Arg144Ser,ENST00000393449,;ST7,missense_variant,p.Arg144Ser,ENST00000393446,;ST7,missense_variant,p.Arg101Ser,ENST00000393444,;ST7,missense_variant,p.Arg144Ser,ENST00000393451,NM_018412.3;ST7,missense_variant,p.Arg98Ser,ENST00000432298,;ST7,missense_variant,p.Arg98Ser,ENST00000422922,;ST7,missense_variant,p.Arg144Ser,ENST00000446490,;ST7,missense_variant,p.Arg92Ser,ENST00000490039,;ST7,missense_variant,p.Arg92Ser,ENST00000477742,;ST7,missense_variant,p.Arg92Ser,ENST00000420755,;ST7,downstream_gene_variant,,ENST00000449366,;ST7-AS2,intron_variant,,ENST00000432541,;ST7-AS2,intron_variant,,ENST00000434993,;ST7-AS2,intron_variant,,ENST00000442719,;ST7,non_coding_transcript_exon_variant,,ENST00000487459,;ST7,non_coding_transcript_exon_variant,,ENST00000489293,;ST7,non_coding_transcript_exon_variant,,ENST00000467538,;ST7,3_prime_UTR_variant,,ENST00000438863,;ST7,intron_variant,,ENST00000443979,;	C	ENST00000265437	Transcript	missense_variant	646/2899	432/1758	144/585	R/S	agG/agC		1		1	ST7	HGNC	HGNC:11351	protein_coding	YES	CCDS5770.1	ENSP00000265437	Q9NRC1	X5DRA0	UPI00000702A3	NM_021908.2	deleterious(0)		4/16		hmmpanther:PTHR12745,Pfam_domain:PF04184																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	117129830	117129830	G	C	1	0	0	0	0	1	0	0	0	15607	1223	43	4		4	ST7	7	117129830	Missense_Mutation	SNP	G	C3N-00560_TP	4046006	117129830	42216143	536	18475											
PTPRZ1	0	.	GRCh38	chr7	122012031	122012031	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctctctggtgatggggaAtggtctggagcctcttctga	5	12	14	10	0	4	2	0	2	4	0	5	4	4	4	2	5	1	0	2	5	1	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.2985A>T	p.Glu995Asp	p.E995D	ENST00000393386	12/30	304	215	89	252	252	0	strelka-varscan-mutect	PTPRZ1,missense_variant,p.Glu995Asp,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,intron_variant,,ENST00000449182,NM_001206839.1;PTPRZ1,intron_variant,,ENST00000483028,;	T	ENST00000393386	Transcript	missense_variant	3396/8175	2985/6948	995/2315	E/D	gaA/gaT		1		1	PTPRZ1	HGNC	HGNC:9685	protein_coding	YES	CCDS34740.1	ENSP00000377047	P23471		UPI000020F9BB	NM_001206838.1,NM_002851.2	tolerated_low_confidence(0.76)		12/30																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	122012031	122012031	A	T	1	0	0	0	0	1	0	0	0	12969	98	4	4		4	PTPRZ1	7	122012031	Missense_Mutation	SNP	A	C3N-00560_TP	4882201	122012031	37333942	537	18476											
RNF148	0	.	GRCh38	chr7	122702562	122702562	+	Frame_Shift_Del	DEL	C	C	-																															ctttccagaggagaatgattCccgaacactccactctctcc																								rs751949808		C3N-00560_TP	C3N-00560_NB	C	C																c.189delG	p.Asn64IlefsTer26	p.N64Ifs*26	ENST00000434824	1/1	155	105	50	156	156	0	sindel-varindel-pindel	RNF148,frameshift_variant,p.Asn64IlefsTer26,ENST00000434824,NM_198085.1;CADPS2,intron_variant,,ENST00000615869,;CADPS2,intron_variant,,ENST00000313070,NM_001167940.1;CADPS2,intron_variant,,ENST00000334010,;CADPS2,intron_variant,,ENST00000412584,NM_001009571.3;CADPS2,intron_variant,,ENST00000449022,NM_017954.10;RNF148,intron_variant,,ENST00000447240,;RNF133,upstream_gene_variant,,ENST00000340112,NM_139175.1;	-	ENST00000434824	Transcript	frameshift_variant	406/1304	189/918	63/305	G/X	ggG/gg	rs751949808	1		-1	RNF148	HGNC	HGNC:22411	protein_coding	YES	CCDS47692.1	ENSP00000388207	Q8N7C7		UPI000006FF1E	NM_198085.1			1/1		hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF53																	HIGH		deletion				1										PASS		.	.												-	7	5	57	122702562	122702562	C	-	1	0	1	0	1	0	0	0	0	13627	842	30	0		0	RNF148	7	122702562	Frame_Shift_Del	DEL	C	C3N-00560_TP	690531	122702562	36643411	538	18477											
LMOD2	0	.	GRCh38	chr7	123663135	123663135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagttcccgaccttctaccCcacagagatcagctcatgag	11	8	7	15	1	3	2	2	1	1	1	4	4	4	2	4	0	2	2	4	0	1	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1549C>A	p.Pro517Thr	p.P517T	ENST00000458573	2/3	293	224	69	260	260	0	strelka-varscan-mutect	LMOD2,missense_variant,p.Pro517Thr,ENST00000458573,NM_207163.1;LMOD2,missense_variant,p.Pro124Thr,ENST00000456238,;	A	ENST00000458573	Transcript	missense_variant	1706/2346	1549/1644	517/547	P/T	Cca/Aca		1		1	LMOD2	HGNC	HGNC:6648	protein_coding	YES	CCDS47693.1	ENSP00000411932	Q6P5Q4		UPI0001572CCA	NM_207163.1	deleterious(0.01)		2/3		hmmpanther:PTHR10901,hmmpanther:PTHR10901:SF12																	MODERATE	1	SNV	2			1										PASS		rs1256156410	.												A	3	1	57	123663135	123663135	C	A	1	0	0	0	0	1	0	0	0	8784	623	22	2		2	LMOD2	7	123663135	Missense_Mutation	SNP	C	C3N-00560_TP	960573	123663135	35682838	539	18478											
GRM8	0	.	GRCh38	chr7	127106676	127106676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacctggtgttatcacttaGctctggggctgtggatgcat	7	14	12	8	0	2	0	1	0	1	0	2	1	2	1	1	4	3	4	1	4	3	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.547C>A	p.Leu183Ile	p.L183I	ENST00000339582	3/11	388	276	112	314	313	1	strelka-varscan-mutect	GRM8,missense_variant,p.Leu183Ile,ENST00000339582,NM_000845.2;GRM8,missense_variant,p.Leu183Ile,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Leu183Ile,ENST00000457830,;GRM8,upstream_gene_variant,,ENST00000465844,;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,non_coding_transcript_exon_variant,,ENST00000448250,;GRM8,non_coding_transcript_exon_variant,,ENST00000473254,;GRM8,missense_variant,p.Leu183Ile,ENST00000472701,;GRM8,missense_variant,p.Leu183Ile,ENST00000341617,;	T	ENST00000339582	Transcript	missense_variant	1356/4057	547/2727	183/908	L/I	Cta/Ata		1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2	deleterious(0)		3/11		Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Superfamily_domains:SSF53822																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	127106676	127106676	G	T	1	0	0	0	0	1	0	0	0	6685	962	34	2		2	GRM8	7	127106676	Missense_Mutation	SNP	G	C3N-00560_TP	3443541	127106676	32239297	540	18479											
FAM71F1	0	.	GRCh38	chr7	128718890	128718890	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactatcaacgcatcctgcAgttgaggacagtcactgaga	12	8	9	12	1	2	2	2	2	0	1	3	4	3	3	2	1	2	3	2	1	2	2	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.494A>T	p.Gln165Leu	p.Q165L	ENST00000315184	3/7	260	184	76	195	195	0	strelka-varscan-mutect	FAM71F1,splice_acceptor_variant,,ENST00000621392,;FAM71F1,splice_acceptor_variant,,ENST00000485070,NM_001282789.1;FAM71F1,missense_variant,p.Gln165Leu,ENST00000315184,NM_001282788.1,NM_032599.3;FAM71F1,missense_variant,p.Gln21Leu,ENST00000466842,;FAM71F1,splice_acceptor_variant,,ENST00000483459,;FAM71F1,intron_variant,,ENST00000469348,;FAM71F1,splice_acceptor_variant,,ENST00000484425,;FAM71F1,missense_variant,p.Gln165Leu,ENST00000471558,;FAM71F1,non_coding_transcript_exon_variant,,ENST00000493738,;	T	ENST00000315184	Transcript	missense_variant	547/1718	494/1035	165/344	Q/L	cAg/cTg		1		1	FAM71F1	HGNC	HGNC:30704	protein_coding	YES	CCDS5804.1	ENSP00000326652	Q96KD3	A0A140VJJ3	UPI000006D961	NM_001282788.1,NM_032599.3	deleterious(0)		3/7		Pfam_domain:PF12480,hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	128718890	128718890	A	T	1	0	0	0	0	1	0	0	0	5477	202	7	4		4	FAM71F1	7	128718890	Missense_Mutation	SNP	A	C3N-00560_TP	1612214	128718890	30627083	541	18480											
FLNC	0	.	GRCh38	chr7	128843466	128843466	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagggagccggcaaggcCaagctggatgtgcagtttgc	10	6	15	10	1	0	0	0	0	0	0	0	2	0	2	3	4	4	4	3	4	3	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2700C>A	p.=	p.A900A	ENST00000325888	18/48	482	319	163	385	385	0	strelka-varscan-mutect	FLNC,synonymous_variant,p.=,ENST00000325888,NM_001458.4;FLNC,synonymous_variant,p.=,ENST00000346177,NM_001127487.1;FLNC,downstream_gene_variant,,ENST00000388853,;	A	ENST00000325888	Transcript	synonymous_variant	2961/9188	2700/8178	900/2725	A	gcC/gcA		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4			18/48		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	128843466	128843466	C	A	1	0	0	0	0	0	0	0	1	5791	581	21	2		2	FLNC	7	128843466	Silent	SNP	C	C3N-00560_TP	124576	128843466	30502507	542	18481											
FLNC	0	.	GRCh38	chr7	128848708	128848708	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgaggggttgctcactgtCcagatcttggtgagtctctg	5	12	15	9	1	3	2	1	1	2	1	5	3	4	2	1	4	1	2	1	4	0	2			C3N-00560_TP	C3N-00560_NB	C	C																c.4728C>A	p.=	p.V1576V	ENST00000325888	27/48	665	483	182	486	486	0	strelka-varscan-mutect	FLNC,synonymous_variant,p.=,ENST00000325888,NM_001458.4;FLNC,synonymous_variant,p.=,ENST00000346177,NM_001127487.1;RP11-309L24.2,downstream_gene_variant,,ENST00000469965,;	A	ENST00000325888	Transcript	synonymous_variant	4989/9188	4728/8178	1576/2725	V	gtC/gtA	COSM390309	1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4			27/48		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296											1						LOW	1	SNV	1		1	1										PASS		rs1222823077	.												A	2	1	57	128848708	128848708	C	A	1	0	0	0	0	0	0	0	1	5791	842	30	2		2	FLNC	7	128848708	Silent	SNP	C	C3N-00560_TP	5242	128848708	30497265	543	18482											
SMO	0	.	GRCh38	chr7	129208814	129208814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgggctgctgagtgagaaGgctgccagcaagatcaacga	11	5	14	11	2	1	3	1	2	0	2	1	5	1	3	2	2	4	4	2	2	3	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1320G>T	p.Lys440Asn	p.K440N	ENST00000249373	7/12	261	184	77	197	197	0	strelka-varscan-mutect	SMO,missense_variant,p.Lys440Asn,ENST00000249373,NM_005631.4;RP11-286H14.8,downstream_gene_variant,,ENST00000466717,;SMO,missense_variant,p.Lys134Asn,ENST00000462420,;SMO,non_coding_transcript_exon_variant,,ENST00000495998,;SMO,upstream_gene_variant,,ENST00000475779,;	T	ENST00000249373	Transcript	missense_variant	1600/3738	1320/2364	440/787	K/N	aaG/aaT		1		1	SMO	HGNC	HGNC:11119	protein_coding	YES	CCDS5811.1	ENSP00000249373	Q99835		UPI0000050447	NM_005631.4	deleterious(0.01)		7/12		PROSITE_profiles:PS50261,hmmpanther:PTHR11309:SF35,hmmpanther:PTHR11309,Pfam_domain:PF01534,SMART_domains:SM01330																	MODERATE	1	SNV	1			1										PASS		rs1374043825	.												T	3	4	57	129208814	129208814	G	T	1	0	0	0	0	1	0	0	0	15121	991	35	2		2	SMO	7	129208814	Missense_Mutation	SNP	G	C3N-00560_TP	360106	129208814	30137159	544	18483											
AHCYL2	0	.	GRCh38	chr7	129425097	129425097	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctttacaatgctcctgAgggtcgctataagcaggatg	11	10	12	8	1	0	2	0	1	0	1	2	3	1	3	1	2	4	4	1	2	4	4	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1664A>T	p.Glu555Val	p.E555V	ENST00000325006	15/17	360	251	109	278	278	0	strelka-varscan-mutect	AHCYL2,missense_variant,p.Glu555Val,ENST00000325006,NM_015328.3;AHCYL2,missense_variant,p.Glu554Val,ENST00000446544,NM_001130720.2;AHCYL2,missense_variant,p.Glu452Val,ENST00000474594,NM_001130723.2;AHCYL2,missense_variant,p.Glu452Val,ENST00000490911,NM_001130722.2;AHCYL2,missense_variant,p.Glu462Val,ENST00000466924,;AHCYL2,non_coding_transcript_exon_variant,,ENST00000477028,;	T	ENST00000325006	Transcript	missense_variant	1718/5056	1664/1836	555/611	E/V	gAg/gTg		1		1	AHCYL2	HGNC	HGNC:22204	protein_coding	YES	CCDS5812.1	ENSP00000315931	Q96HN2		UPI00001354E4	NM_015328.3	deleterious(0.03)		15/17		hmmpanther:PTHR23420:SF2,hmmpanther:PTHR23420,TIGRFAM_domain:TIGR00936,Gene3D:3.40.50.1480,SMART_domains:SM00996,Superfamily_domains:SSF52283																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	129425097	129425097	A	T	1	0	0	0	0	1	0	0	0	488	304	11	4		4	AHCYL2	7	129425097	Missense_Mutation	SNP	A	C3N-00560_TP	216283	129425097	29920876	545	18484											
PLXNA4	0	.	GRCh38	chr7	132159633	132159633	+	Splice_Site	SNP	C	C	A																															gggctgacacagctcaggacCtgaaggaaaggtggggagag																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.4501-1G>T		p.X1501_splice	ENST00000359827		126	93	33	107	107	0	strelka-varscan-mutect	PLXNA4,splice_acceptor_variant,,ENST00000359827,;PLXNA4,splice_acceptor_variant,,ENST00000321063,NM_020911.1;	A	ENST00000359827	Transcript	splice_acceptor_variant	-/13786	4501/5685	1501/1894				1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B					24/31																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	57	132159633	132159633	C	A	1	0	0	0	0	0	0	1	0	12228	695	24	2		2	PLXNA4	7	132159633	Splice_Site	SNP	C	C3N-00560_TP	2734536	132159633	27186340	546	18485	393	2									
PLXNA4	0	.	GRCh38	chr7	132159634	132159634	+	Splice_Site	SNP	T	T	G																															ggctgacacagctcaggaccTgaaggaaaggtggggagagg																								novel		C3N-00560_TP	C3N-00560_NB	T	T																c.4501-2A>C		p.X1501_splice	ENST00000359827		127	94	33	104	104	0	strelka-varscan-mutect	PLXNA4,splice_acceptor_variant,,ENST00000359827,;PLXNA4,splice_acceptor_variant,,ENST00000321063,NM_020911.1;	G	ENST00000359827	Transcript	splice_acceptor_variant	-/13786	4501/5685	1501/1894				1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B					24/31																		HIGH	1	SNV	5			1										PASS		.	.												G	5	3	57	132159634	132159634	T	G	1	0	0	0	0	0	0	1	0	12228	1594	55	5		5	PLXNA4	7	132159634	Splice_Site	SNP	T	C3N-00560_TP	1	132159634	27186339	547	18486	393	2									
SLC35B4	0	.	GRCh38	chr7	134296467	134296467	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgggaatttcatataactCtgtagaggttacaagaggat	14	11	11	5	1	2	2	1	0	1	2	2	5	2	4	0	3	2	2	0	3	6	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.674-1G>A		p.X225_splice	ENST00000378509		242	192	50	157	157	0	strelka-varscan-mutect	SLC35B4,splice_acceptor_variant,,ENST00000378509,NM_032826.4;SLC35B4,downstream_gene_variant,,ENST00000470969,;SLC35B4,upstream_gene_variant,,ENST00000466599,;SLC35B4,splice_acceptor_variant,,ENST00000416907,;	T	ENST00000378509	Transcript	splice_acceptor_variant	-/6797	674/996	225/331				1		-1	SLC35B4	HGNC	HGNC:20584	protein_coding	YES	CCDS34756.1	ENSP00000367770	Q969S0		UPI00000377B5	NM_032826.4				8/9																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	57	134296467	134296467	C	T	1	0	0	0	0	0	0	1	0	14848	927	32	3		3	SLC35B4	7	134296467	Splice_Site	SNP	C	C3N-00560_TP	2136833	134296467	25049506	548	18487											
AKR1B10	0	.	GRCh38	chr7	134538257	134538257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtctgtgacaccagcaCgcattgttgagaacattcag	12	9	9	11	1	2	2	1	2	1	1	2	3	2	2	2	0	2	3	2	0	2	3	rs142388608		C3N-00560_TP	C3N-00560_NB	C	C																c.805C>A	p.Arg269Ser	p.R269S	ENST00000359579	8/10	320	187	133	220	220	0	strelka-varscan-mutect	AKR1B10,missense_variant,p.Arg269Ser,ENST00000359579,NM_020299.4;AKR1B10,non_coding_transcript_exon_variant,,ENST00000498818,;AKR1B10,non_coding_transcript_exon_variant,,ENST00000496435,;AKR1B10,downstream_gene_variant,,ENST00000475559,;	A	ENST00000359579	Transcript	missense_variant	1125/1590	805/951	269/316	R/S	Cgc/Agc	rs142388608,COSM5241234	1		1	AKR1B10	HGNC	HGNC:382	protein_coding	YES	CCDS5832.1	ENSP00000352584	O60218		UPI00000362E9	NM_020299.4	deleterious(0)		8/10		Gene3D:3.20.20.100,Pfam_domain:PF00248,PIRSF_domain:PIRSF000097,PROSITE_patterns:PS00063,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF238,Superfamily_domains:SSF51430											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs142388608	.												A	3	1	57	134538257	134538257	C	A	1	0	0	0	0	1	0	0	0	551	536	19	1		1	AKR1B10	7	134538257	Missense_Mutation	SNP	C	C3N-00560_TP	241790	134538257	24807716	549	18488											
AKR1B15	0	.	GRCh38	chr7	134575833	134575833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttgcaggttgagtgtcacCcatacctcacgcaggagaaa	11	9	11	10	1	2	2	2	1	0	1	2	3	2	2	2	2	2	4	2	2	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.649C>A	p.Pro217Thr	p.P217T	ENST00000457545	8/12	489	428	61	308	308	0	varscan-mutect	AKR1B15,missense_variant,p.Pro217Thr,ENST00000457545,NM_001080538.2;AKR1B15,missense_variant,p.Pro217Thr,ENST00000423958,;	A	ENST00000457545	Transcript	missense_variant	909/1621	649/1035	217/344	P/T	Cca/Aca		1		1	AKR1B15	HGNC	HGNC:37281	protein_coding	YES	CCDS47715.2	ENSP00000389289	C9JRZ8		UPI00004193E1	NM_001080538.2	deleterious(0)		8/12		hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF197,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430,Prints_domain:PR00069																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	134575833	134575833	C	A	1	0	0	0	0	1	0	0	0	552	623	22	2		2	AKR1B15	7	134575833	Missense_Mutation	SNP	C	C3N-00560_TP	37576	134575833	24770140	550	18489											
STRA8	0	.	GRCh38	chr7	135258428	135258428	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcttgcaggaagcatcctTtcccgttgatgaagagatga	10	12	11	8	1	1	4	0	3	1	1	3	6	3	5	2	1	2	3	2	1	2	3	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.929T>A	p.Phe310Tyr	p.F310Y	ENST00000275764	9/9	174	95	79	88	87	1	strelka-varscan-mutect	STRA8,missense_variant,p.Phe310Tyr,ENST00000275764,NM_182489.1;RP11-260N14.1,intron_variant,,ENST00000637483,;	A	ENST00000275764	Transcript	missense_variant	929/993	929/993	310/330	F/Y	tTt/tAt		1		1	STRA8	HGNC	HGNC:30653	protein_coding	YES	CCDS5839.1	ENSP00000275764	Q7Z7C7		UPI00001A36D9	NM_182489.1	tolerated(0.28)		9/9		hmmpanther:PTHR35254																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	135258428	135258428	T	A	1	0	0	0	0	1	0	0	0	15704	1841	64	4		4	STRA8	7	135258428	Missense_Mutation	SNP	T	C3N-00560_TP	682595	135258428	24087545	551	18490											
CHRM2	0	.	GRCh38	chr7	137015554	137015554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctgttgccaaccaagaccCcgtttctccaagtctggtac	8	10	8	15	1	2	1	0	0	2	1	3	1	2	1	6	1	3	3	6	1	4	3			C3N-00560_TP	C3N-00560_NB	C	C																c.689C>T	p.Pro230Leu	p.P230L	ENST00000445907	3/3	509	384	125	427	427	0	strelka-varscan-mutect	CHRM2,missense_variant,p.Pro230Leu,ENST00000445907,NM_001006630.1,NM_001006627.1;CHRM2,missense_variant,p.Pro230Leu,ENST00000401861,NM_000739.2,NM_001006626.1,NM_001006628.1;CHRM2,missense_variant,p.Pro230Leu,ENST00000453373,NM_001006631.1,NM_001006629.1;CHRM2,missense_variant,p.Pro230Leu,ENST00000320658,NM_001006632.1;AC009264.1,intron_variant,,ENST00000439694,;AC009264.1,intron_variant,,ENST00000425981,;AC009264.1,intron_variant,,ENST00000586239,;AC009264.1,intron_variant,,ENST00000597642,;AC009264.1,intron_variant,,ENST00000598184,;AC009264.1,intron_variant,,ENST00000593789,;AC009264.1,intron_variant,,ENST00000592183,;	T	ENST00000445907	Transcript	missense_variant	1217/5918	689/1401	230/466	P/L	cCc/cTc	COSM3633697	1		1	CHRM2	HGNC	HGNC:1951	protein_coding	YES	CCDS5843.1	ENSP00000399745	P08172	A4D1Q0	UPI0000050410	NM_001006630.1,NM_001006627.1	tolerated(0.19)		3/3		Pfam_domain:PF00001,Prints_domain:PR00539,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF57,SMART_domains:SM01381											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	57	137015554	137015554	C	T	1	0	0	0	0	1	0	0	0	3137	623	22	3		3	CHRM2	7	137015554	Missense_Mutation	SNP	C	C3N-00560_TP	1757126	137015554	22330419	552	18491											
SVOPL	0	.	GRCh38	chr7	138644722	138644722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccagcactcaccaggaCgggctccaccagcttcccct	7	5	11	18	1	1	0	1	0	0	0	3	1	3	1	6	4	2	3	6	4	0	1	rs143599875		C3N-00560_TP	C3N-00560_NB	C	C																c.784G>T	p.Val262Phe	p.V262F	ENST00000419765	8/15	144	70	74	91	91	0	strelka-varscan-mutect	SVOPL,missense_variant,p.Val142Phe,ENST00000421622,;SVOPL,missense_variant,p.Val262Phe,ENST00000419765,NM_001139456.1;SVOPL,missense_variant,p.Val110Phe,ENST00000436657,NM_174959.3;SVOPL,missense_variant,p.Val110Phe,ENST00000288513,;SVOPL,missense_variant,p.Val15Phe,ENST00000441685,;AC013429.4,downstream_gene_variant,,ENST00000456604,;	A	ENST00000419765	Transcript	missense_variant	818/1523	784/1479	262/492	V/F	Gtc/Ttc	rs143599875	1		-1	SVOPL	HGNC	HGNC:27034	protein_coding	YES	CCDS47721.1	ENSP00000405482	Q8N434		UPI0001565476	NM_001139456.1	tolerated(0.36)		8/15		Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF168,Superfamily_domains:SSF103473																	MODERATE	1	SNV	5			1										PASS		rs143599875	.												A	3	1	57	138644722	138644722	C	A	1	0	0	0	0	1	0	0	0	15809	550	19	1		1	SVOPL	7	138644722	Missense_Mutation	SNP	C	C3N-00560_TP	1629168	138644722	20701251	553	18492											
BRAF	0	.	GRCh38	chr7	140924700	140924700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accgccaccgctcagcgccgCcatcttataaccgagagccg	9	5	9	18	6	2	1	1	0	1	1	2	2	2	1	7	0	3	1	7	0	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.4G>T	p.Ala2Ser	p.A2S	ENST00000288602	1/18	248	184	64	164	164	0	strelka-varscan-mutect	BRAF,missense_variant,p.Ala2Ser,ENST00000288602,NM_004333.4;BRAF,non_coding_transcript_exon_variant,,ENST00000469930,;BRAF,upstream_gene_variant,,ENST00000497784,;	A	ENST00000288602	Transcript	missense_variant	65/2480	4/2301	2/766	A/S	Gcg/Tcg		1		-1	BRAF	HGNC	HGNC:1097	protein_coding	YES	CCDS5863.1	ENSP00000288602	P15056		UPI000013DF26	NM_004333.4	deleterious_low_confidence(0)		1/18																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	140924700	140924700	C	A	1	0	0	0	0	1	0	0	0	1665	739	26	2		2	BRAF	7	140924700	Missense_Mutation	SNP	C	C3N-00560_TP	2279978	140924700	18421273	554	18493											
WEE2	0	.	GRCh38	chr7	141714292	141714292	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaagctcacacctgctccCctcaaggatgagatgacctc	10	9	8	14	0	2	3	2	3	0	1	4	5	3	4	4	1	2	2	4	1	2	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.426C>A	p.=	p.P142P	ENST00000397541	2/12	207	146	61	199	199	0	strelka-varscan-mutect	WEE2,synonymous_variant,p.=,ENST00000397541,NM_001105558.1;WEE2,upstream_gene_variant,,ENST00000493845,;WEE2-AS1,non_coding_transcript_exon_variant,,ENST00000488785,;WEE2-AS1,non_coding_transcript_exon_variant,,ENST00000478332,;WEE2-AS1,non_coding_transcript_exon_variant,,ENST00000462383,;WEE2-AS1,non_coding_transcript_exon_variant,,ENST00000471512,;WEE2-AS1,intron_variant,,ENST00000495800,;WEE2-AS1,intron_variant,,ENST00000465110,;WEE2-AS1,intron_variant,,ENST00000459753,;	A	ENST00000397541	Transcript	synonymous_variant	832/3061	426/1704	142/567	P	ccC/ccA		1		1	WEE2	HGNC	HGNC:19684	protein_coding	YES	CCDS43660.1	ENSP00000380675	P0C1S8		UPI000004E9D3	NM_001105558.1			2/12		hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF75,PIRSF_domain:PIRSF037281																	LOW	1	SNV	2			1										PASS		rs1404838196	.												A	2	1	57	141714292	141714292	C	A	1	0	0	0	0	0	0	0	1	17902	610	22	2		2	WEE2	7	141714292	Silent	SNP	C	C3N-00560_TP	789592	141714292	17631681	555	18494											
OR9A4	0	.	GRCh38	chr7	141919348	141919348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtttctttttcaaatctGgccggtctatgtcatgtttc	5	19	9	8	1	5	0	2	0	3	0	6	0	5	0	1	3	0	2	1	3	2	5	rs781997058		C3N-00560_TP	C3N-00560_NB	G	G																c.473G>T	p.Trp158Leu	p.W158L	ENST00000548136	1/1	280	196	84	215	215	0	strelka-varscan-mutect	OR9A4,missense_variant,p.Trp158Leu,ENST00000548136,NM_001001656.1;MGAM,intron_variant,,ENST00000465654,;MGAM,intron_variant,,ENST00000497554,;	T	ENST00000548136	Transcript	missense_variant	532/1093	473/945	158/314	W/L	tGg/tTg	rs781997058	1		1	OR9A4	HGNC	HGNC:15095	protein_coding	YES	CCDS43661.1	ENSP00000448789	Q8NGU2	A0A126GVB1	UPI0000041D24	NM_001001656.1	tolerated(0.67)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF216,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs781997058	.												T	3	4	57	141919348	141919348	G	T	1	0	0	0	0	1	0	0	0	11316	1357	47	2		2	OR9A4	7	141919348	Missense_Mutation	SNP	G	C3N-00560_TP	205056	141919348	17426625	556	18495											
MGAM	0	.	GRCh38	chr7	142036215	142036215	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggacacccctgaggagcTctgtaggcggtggatgcagt	7	10	15	9	1	1	1	0	1	1	0	1	4	1	4	2	5	2	3	2	5	1	2	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.2006T>A	p.Leu669His	p.L669H	ENST00000549489	17/48	289	212	77	277	277	0	strelka-varscan-mutect	MGAM,missense_variant,p.Leu669His,ENST00000475668,;MGAM,missense_variant,p.Leu669His,ENST00000549489,NM_004668.2;MGAM,missense_variant,p.Leu669His,ENST00000620571,;MGAM,downstream_gene_variant,,ENST00000495045,;MGAM,upstream_gene_variant,,ENST00000490593,;	A	ENST00000549489	Transcript	missense_variant	2101/6525	2006/5574	669/1857	L/H	cTc/cAc		1		1	MGAM	HGNC	HGNC:7043	protein_coding	YES	CCDS47727.1	ENSP00000447378	O43451		UPI000183CB7B	NM_004668.2	deleterious(0)		17/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF63,PROSITE_patterns:PS00707,Pfam_domain:PF01055,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	142036215	142036215	T	A	1	0	0	0	0	1	0	0	0	9499	1551	54	4		4	MGAM	7	142036215	Missense_Mutation	SNP	T	C3N-00560_TP	116867	142036215	17309758	557	18496											
TRPV6	0	.	GRCh38	chr7	142873588	142873588	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgtacatgaagggcaggtCcacgttgtagttggctgggc	7	10	16	8	1	0	1	0	1	0	0	1	1	1	1	1	4	1	7	1	4	3	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1768G>T	p.Asp590Tyr	p.D590Y	ENST00000359396	13/15	461	346	115	404	404	0	strelka-varscan-mutect	TRPV6,missense_variant,p.Asp590Tyr,ENST00000359396,NM_018646.5;EPHB6,downstream_gene_variant,,ENST00000619012,;EPHB6,downstream_gene_variant,,ENST00000422643,NM_004445.5;EPHB6,downstream_gene_variant,,ENST00000411471,NM_001280794.2,NM_001280795.2;TRPV6,downstream_gene_variant,,ENST00000436401,;EPHB6,downstream_gene_variant,,ENST00000476059,;TRPV6,downstream_gene_variant,,ENST00000431833,;RP11-114L10.2,upstream_gene_variant,,ENST00000438839,;EPHB6,downstream_gene_variant,,ENST00000617632,;TRPV6,non_coding_transcript_exon_variant,,ENST00000615386,;TRPV6,non_coding_transcript_exon_variant,,ENST00000485138,;EPHB6,downstream_gene_variant,,ENST00000616380,;EPHB6,downstream_gene_variant,,ENST00000614832,;EPHB6,downstream_gene_variant,,ENST00000611578,;EPHB6,downstream_gene_variant,,ENST00000486511,;TRPV6,downstream_gene_variant,,ENST00000619250,;TRPV6,downstream_gene_variant,,ENST00000489123,;TRPV6,downstream_gene_variant,,ENST00000474388,;EPHB6,downstream_gene_variant,,ENST00000471581,;	A	ENST00000359396	Transcript	missense_variant	1894/2928	1768/2298	590/765	D/Y	Gac/Tac		1		-1	TRPV6	HGNC	HGNC:14006	protein_coding	YES		ENSP00000352358	Q9H1D0		UPI00064546CC	NM_018646.5	tolerated(0.29)		13/15		hmmpanther:PTHR10582:SF25,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520																	MODERATE	1	SNV	1			1										PASS		rs1158903250	.												A	3	1	57	142873588	142873588	C	A	1	0	0	0	0	1	0	0	0	17106	855	30	2		2	TRPV6	7	142873588	Missense_Mutation	SNP	C	C3N-00560_TP	837373	142873588	16472385	558	18497											
TRPV5	0	.	GRCh38	chr7	142915355	142915355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctttccaaaatagcgaGaggcaccaaccctgaagatg	13	8	9	11	2	1	3	0	1	1	2	3	4	2	3	3	1	2	1	3	1	5	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1238C>A	p.Ser413Tyr	p.S413Y	ENST00000265310	10/15	136	102	34	123	123	0	strelka-varscan-mutect	TRPV5,missense_variant,p.Ser413Tyr,ENST00000265310,NM_019841.6;TRPV5,missense_variant,p.Ser358Tyr,ENST00000439304,;	T	ENST00000265310	Transcript	missense_variant	1587/2952	1238/2190	413/729	S/Y	tCt/tAt		1		-1	TRPV5	HGNC	HGNC:3145	protein_coding	YES	CCDS5875.1	ENSP00000265310		A0A0A6YY98	UPI0004620D64	NM_019841.6	deleterious(0.03)		10/15		Pfam_domain:PF00520,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF11,TIGRFAM_domain:TIGR00870																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	142915355	142915355	G	T	1	0	0	0	0	1	0	0	0	17105	942	33	2		2	TRPV5	7	142915355	Missense_Mutation	SNP	G	C3N-00560_TP	41767	142915355	16430618	559	18498											
TRPV5	0	.	GRCh38	chr7	142925635	142925635	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtagtaaagcagatcatgTagagcaggtacaaggcagcc	15	6	12	8	1	1	2	1	0	0	2	1	2	1	2	1	2	4	7	1	2	6	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1016A>T	p.Tyr339Phe	p.Y339F	ENST00000265310	8/15	477	328	149	403	403	0	strelka-varscan-mutect	TRPV5,missense_variant,p.Tyr339Phe,ENST00000265310,NM_019841.6;TRPV5,missense_variant,p.Tyr339Phe,ENST00000442623,;TRPV5,missense_variant,p.Tyr284Phe,ENST00000439304,;	A	ENST00000265310	Transcript	missense_variant	1365/2952	1016/2190	339/729	Y/F	tAc/tTc		1		-1	TRPV5	HGNC	HGNC:3145	protein_coding	YES	CCDS5875.1	ENSP00000265310		A0A0A6YY98	UPI0004620D64	NM_019841.6	deleterious(0.01)		8/15		Pfam_domain:PF00520,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF11,TIGRFAM_domain:TIGR00870,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	142925635	142925635	T	A	1	0	0	0	0	1	0	0	0	17105	1638	57	4		4	TRPV5	7	142925635	Missense_Mutation	SNP	T	C3N-00560_TP	10280	142925635	16420338	560	18499											
C7orf34	0	.	GRCh38	chr7	142940545	142940545	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaggagggccattgaggcgGacattcccaaatatccaact	12	8	10	11	1	1	1	1	1	0	0	3	3	3	3	3	4	1	0	3	4	3	3	rs550423222		C3N-00560_TP	C3N-00560_NB	G	G																c.402G>A	p.=	p.R134R	ENST00000409607	2/2	305	197	108	277	277	0	strelka-varscan-mutect	C7orf34,synonymous_variant,p.=,ENST00000409607,NM_178829.4;C7orf34,synonymous_variant,p.=,ENST00000458732,;KEL,downstream_gene_variant,,ENST00000355265,NM_000420.2;KEL,downstream_gene_variant,,ENST00000470850,;KEL,downstream_gene_variant,,ENST00000465697,;KEL,downstream_gene_variant,,ENST00000478969,;	A	ENST00000409607	Transcript	synonymous_variant	443/766	402/444	134/147	R	cgG/cgA	rs550423222	1		1	C7orf34	HGNC	HGNC:21750	protein_coding	YES	CCDS5876.2	ENSP00000386450	Q96L11		UPI00005A76EA	NM_178829.4			2/2																			LOW	1	SNV	1			1										PASS		rs550423222	.												A	2	1	57	142940545	142940545	G	A	1	0	0	0	0	0	0	0	1	2139	1161	41	3		3	C7orf34	7	142940545	Silent	SNP	G	C3N-00560_TP	14910	142940545	16405428	561	18500											
OR9A2	0	.	GRCh38	chr7	143027120	143027120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaattcagtggcactagagtGgttgtccatcatttagtcct	9	14	10	8	0	2	1	2	0	0	1	4	2	4	1	2	2	0	2	2	2	3	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.13C>A	p.His5Asn	p.H5N	ENST00000350513	1/1	35	20	15	22	22	0	strelka-varscan-mutect	OR9A2,missense_variant,p.His5Asn,ENST00000350513,NM_001001658.1;	T	ENST00000350513	Transcript	missense_variant	76/1038	13/933	5/310	H/N	Cac/Aac		1		-1	OR9A2	HGNC	HGNC:15093	protein_coding	YES	CCDS34767.1	ENSP00000316518	Q8NGT5		UPI0000041C18	NM_001001658.1	tolerated(0.28)		1/1		hmmpanther:PTHR24242:SF216,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	57	143027120	143027120	G	T	1	0	0	0	0	1	0	0	0	11315	1348	47	2		2	OR9A2	7	143027120	Missense_Mutation	SNP	G	C3N-00560_TP	86575	143027120	16318853	562	18501											
TCAF2	0	.	GRCh38	chr7	143720468	143720468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgaggaagatgctacGagggtctggcctcccagctg	7	8	14	12	1	1	2	0	1	1	1	3	4	3	3	3	3	3	3	3	3	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1409G>T	p.Arg470Leu	p.R470L	ENST00000444908	3/7	40	27	13	50	50	0	strelka-varscan-mutect	TCAF2,missense_variant,p.Arg470Leu,ENST00000441159,;TCAF2,missense_variant,p.Arg470Leu,ENST00000444908,NM_001130025.1;TCAF2,missense_variant,p.Arg470Leu,ENST00000357344,NM_173678.2;TCAF2,missense_variant,p.Arg306Leu,ENST00000411935,;TCAF2,missense_variant,p.Arg306Leu,ENST00000425618,NM_001130026.2;TCAF2,missense_variant,p.Arg285Leu,ENST00000518791,;RP11-298A10.1,intron_variant,,ENST00000636919,;RP11-298A10.1,intron_variant,,ENST00000636123,;	T	ENST00000444908	Transcript	missense_variant	1494/2976	1409/2538	470/845	R/L	cGa/cTa		1		1	TCAF2	HGNC	HGNC:26878	protein_coding	YES	CCDS34769.1	ENSP00000412724	A6NFQ2		UPI00001AF3A8	NM_001130025.1	tolerated(0.12)		3/7		hmmpanther:PTHR15730,hmmpanther:PTHR15730:SF4																	MODERATE	1	SNV	1			1										PASS		rs1435713501	.												T	3	4	57	143720468	143720468	G	T	1	0	0	0	0	1	0	0	0	16071	1058	37	1		1	TCAF2	7	143720468	Missense_Mutation	SNP	G	C3N-00560_TP	693348	143720468	15625505	563	18502											
OR2A14	0	.	GRCh38	chr7	144130010	144130010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaggtcaagggcgccCtgaggagggcactgaggaag	11	4	18	8	1	1	3	1	2	0	1	1	5	1	5	1	5	1	2	1	5	2	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.898C>G	p.Leu300Val	p.L300V	ENST00000408899	1/1	101	75	26	95	95	0	strelka-varscan-mutect	OR2A14,missense_variant,p.Leu300Val,ENST00000408899,NM_001001659.1;OR2A14,missense_variant,p.Leu300Val,ENST00000627593,;	G	ENST00000408899	Transcript	missense_variant	953/1012	898/933	300/310	L/V	Ctg/Gtg		1		1	OR2A14	HGNC	HGNC:15084	protein_coding	YES	CCDS43672.1	ENSP00000386137	Q96R47	A0A126GVB0	UPI0000061E6E	NM_001001659.1	deleterious(0.03)		1/1		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF27,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs953814616	.												G	3	3	57	144130010	144130010	C	G	1	0	0	0	0	1	0	0	0	11053	680	24	4		4	OR2A14	7	144130010	Missense_Mutation	SNP	C	C3N-00560_TP	409542	144130010	15215963	564	18503											
NOBOX	0	.	GRCh38	chr7	144398467	144398467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggcaacttgggctgagggGactggaaaagcgggggctgt	9	6	20	6	1	0	1	0	1	0	0	0	3	0	3	0	7	2	3	0	7	3	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1589C>T	p.Ser530Phe	p.S530F	ENST00000467773	9/10	222	153	69	186	186	0	strelka-varscan-mutect	NOBOX,missense_variant,p.Ser530Phe,ENST00000467773,NM_001080413.3;NOBOX,missense_variant,p.Ser498Phe,ENST00000483238,;	A	ENST00000467773	Transcript	missense_variant	1589/2076	1589/2076	530/691	S/F	tCc/tTc		1		-1	NOBOX	HGNC	HGNC:22448	protein_coding	YES		ENSP00000419457	O60393		UPI00019B220B	NM_001080413.3	tolerated(0.45)		9/10		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF282																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	144398467	144398467	G	A	1	0	0	0	0	1	0	0	0	10554	1174	41	3		3	NOBOX	7	144398467	Missense_Mutation	SNP	G	C3N-00560_TP	268457	144398467	14947506	565	18504											
CNTNAP2	0	.	GRCh38	chr7	146839856	146839856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caataccggatgctctacagCgacacagggagaaactggaa	15	5	11	10	2	1	1	0	0	1	1	1	5	1	3	1	3	5	1	1	3	5	2	rs141831869		C3N-00560_TP	C3N-00560_NB	C	C																c.354C>A	p.Ser118Arg	p.S118R	ENST00000361727	3/24	310	200	110	286	286	0	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Ser118Arg,ENST00000361727,NM_014141.5;CNTNAP2,missense_variant,p.Ser118Arg,ENST00000625365,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637694,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636561,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637150,;	A	ENST00000361727	Transcript	missense_variant	872/9896	354/3996	118/1331	S/R	agC/agA	rs141831869	1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	deleterious(0)		3/24		Gene3D:2.60.120.260,Pfam_domain:PF00754,PROSITE_profiles:PS50022,SMART_domains:SM00231,Superfamily_domains:SSF49785										uncertain_significance							MODERATE	1	SNV	1		1	1										PASS		rs141831869	.												A	3	1	57	146839856	146839856	C	A	1	0	0	0	0	1	0	0	0	3428	767	27	1		1	CNTNAP2	7	146839856	Missense_Mutation	SNP	C	C3N-00560_TP	2441389	146839856	12506117	566	18505											
ZNF746	0	.	GRCh38	chr7	149474823	149474823	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgcgctgcccccaccgCtgccgccaccgccgccgcca	3	3	10	25	7	0	0	0	0	0	0	0	0	0	0	10	0	3	2	10	0	0	0	rs553710582		C3N-00560_TP	C3N-00560_NB	C	C																c.1499G>C	p.Ser500Thr	p.S500T	ENST00000458143	7/7	122	87	35	49	49	0	strelka-varscan-mutect	ZNF746,missense_variant,p.Ser499Thr,ENST00000340622,NM_152557.4;ZNF746,missense_variant,p.Ser500Thr,ENST00000458143,NM_001163474.1;ZNF746,downstream_gene_variant,,ENST00000471735,;	G	ENST00000458143	Transcript	missense_variant	1770/3797	1499/1938	500/645	S/T	aGc/aCc	rs553710582	1		-1	ZNF746	HGNC	HGNC:21948	protein_coding	YES	CCDS55180.1	ENSP00000395007	Q6NUN9		UPI00015DA840	NM_001163474.1	tolerated_low_confidence(0.49)		7/7		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		rs553710582	.												G	3	3	57	149474823	149474823	C	G	1	0	0	0	0	1	0	0	0	18712	797	28	4		4	ZNF746	7	149474823	Missense_Mutation	SNP	C	C3N-00560_TP	2634967	149474823	9871150	567	18506											
ZNF746	0	.	GRCh38	chr7	149494208	149494208	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcccagggctaccttaGgggactcccccttgctgccc	4	8	12	17	1	0	0	0	0	0	0	2	1	2	1	5	4	3	2	5	4	2	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.320C>G	p.Pro107Arg	p.P107R	ENST00000458143	2/7	220	154	66	188	188	0	strelka-varscan-mutect	ZNF746,missense_variant,p.Pro107Arg,ENST00000461958,;ZNF746,missense_variant,p.Pro107Arg,ENST00000340622,NM_152557.4;ZNF746,missense_variant,p.Pro107Arg,ENST00000458143,NM_001163474.1;	C	ENST00000458143	Transcript	missense_variant	591/3797	320/1938	107/645	P/R	cCt/cGt		1		-1	ZNF746	HGNC	HGNC:21948	protein_coding	YES	CCDS55180.1	ENSP00000395007	Q6NUN9		UPI00015DA840	NM_001163474.1	deleterious(0)		2/7		PROSITE_profiles:PS50805,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF13,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	57	149494208	149494208	G	C	1	0	0	0	0	1	0	0	0	18712	1014	35	4		4	ZNF746	7	149494208	Missense_Mutation	SNP	G	C3N-00560_TP	19385	149494208	9851765	568	18507											
ZNF467	0	.	GRCh38	chr7	149765002	149765002	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctggtggcggcccaggtgCgacttgcggctgaagcggcg	4	6	19	12	5	0	1	0	1	0	0	0	2	0	1	2	6	3	1	2	6	1	1	rs546115312		C3N-00560_TP	C3N-00560_NB	C	C																c.1500G>T	p.=	p.S500S	ENST00000302017	5/5	136	102	34	84	84	0	strelka-varscan-mutect	ZNF467,synonymous_variant,p.=,ENST00000302017,NM_207336.1;ZNF467,intron_variant,,ENST00000484747,;	A	ENST00000302017	Transcript	synonymous_variant	1914/2553	1500/1788	500/595	S	tcG/tcT	rs546115312	1		-1	ZNF467	HGNC	HGNC:23154	protein_coding	YES	CCDS5899.1	ENSP00000304769	Q7Z7K2		UPI0000160B41	NM_207336.1			5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF227,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		rs546115312	.												A	2	1	57	149765002	149765002	C	A	1	0	0	0	0	0	0	0	1	18498	755	27	1		1	ZNF467	7	149765002	Silent	SNP	C	C3N-00560_TP	270794	149765002	9580971	569	18508											
SSPO	0	.	GRCh38	chr7	149789289	149789289	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggatgagccgagctatccGtgcccccagggcttgctggc	6	7	14	14	3	0	1	0	1	0	0	1	3	1	2	4	3	4	3	4	3	1	2	rs115279959		C3N-00560_TP	C3N-00560_NB	G	G																c.4356G>C	p.=	p.P1452P	ENST00000378016	29/107	431	292	139	322	322	0	strelka-varscan-mutect	SSPO,synonymous_variant,p.=,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;SSPO,downstream_gene_variant,,ENST00000493502,;	C	ENST00000378016	Transcript	synonymous_variant	4356/15589	4356/15453	1452/5150	P	ccG/ccC	rs115279959	1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2			29/107		Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424,Superfamily_domains:SSF57424,PROSITE_profiles:PS50068,PROSITE_profiles:PS50068,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF294,PROSITE_patterns:PS01209																	LOW	1	SNV	5			1										PASS		rs115279959	.												C	2	2	57	149789289	149789289	G	C	1	0	0	0	0	0	0	0	1	15566	1132	40	4		4	SSPO	7	149789289	Silent	SNP	G	C3N-00560_TP	24287	149789289	9556684	570	18509											
SSPO	0	.	GRCh38	chr7	149809109	149809109	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggctacaggaaccgCacccgaggcagcagctgcgc	8	4	16	13	3	0	0	0	0	0	0	0	2	0	1	2	5	5	5	2	5	2	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.9192C>A	p.=	p.R3064R	ENST00000378016	62/107	284	190	94	277	277	0	strelka-varscan-mutect	SSPO,synonymous_variant,p.=,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,upstream_gene_variant,,ENST00000481772,;	A	ENST00000378016	Transcript	synonymous_variant	9192/15589	9192/15453	3064/5150	R	cgC/cgA		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2			62/107		Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895,PROSITE_profiles:PS50092																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	57	149809109	149809109	C	A	1	0	0	0	0	0	0	0	1	15566	697	25	2		2	SSPO	7	149809109	Silent	SNP	C	C3N-00560_TP	19820	149809109	9536864	571	18510											
SSPO	0	.	GRCh38	chr7	149827817	149827817	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggccccgggggagctgggGctctgcgagcagacgtgcct	4	6	19	12	3	1	1	0	0	1	1	1	3	1	2	3	5	4	3	3	5	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.14823G>T	p.=	p.G4941G	ENST00000378016	102/107	72	46	26	52	52	0	strelka-varscan-mutect	SSPO,synonymous_variant,p.=,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,non_coding_transcript_exon_variant,,ENST00000492965,;SSPO,non_coding_transcript_exon_variant,,ENST00000488835,;SSPO,non_coding_transcript_exon_variant,,ENST00000461331,;SSPO,non_coding_transcript_exon_variant,,ENST00000465639,;SSPO,non_coding_transcript_exon_variant,,ENST00000472850,;	T	ENST00000378016	Transcript	synonymous_variant	14823/15589	14823/15453	4941/5150	G	ggG/ggT		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2			102/107		Gene3D:2.10.25.10,Superfamily_domains:SSF57567																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	57	149827817	149827817	G	T	1	0	0	0	0	0	0	0	1	15566	1190	42	2		2	SSPO	7	149827817	Silent	SNP	G	C3N-00560_TP	18708	149827817	9518156	572	18511											
ZNF775	0	.	GRCh38	chr7	150397237	150397237	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcgccccgagtgggcctgGctggggctctgccagggctg	2	6	20	13	2	1	0	0	0	1	0	1	1	1	0	4	6	1	3	4	6	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.756G>T	p.Trp252Cys	p.W252C	ENST00000329630	3/3	38	22	16	19	19	0	strelka-varscan-mutect	ZNF775,missense_variant,p.Trp252Cys,ENST00000329630,NM_173680.3;ZNF775,downstream_gene_variant,,ENST00000490973,;ZNF775,downstream_gene_variant,,ENST00000478789,;ZNF775,intron_variant,,ENST00000486297,;ZNF775,intron_variant,,ENST00000483664,;	T	ENST00000329630	Transcript	missense_variant	863/2257	756/1614	252/537	W/C	tgG/tgT		1		1	ZNF775	HGNC	HGNC:28501	protein_coding	YES	CCDS43678.1	ENSP00000330838	Q96BV0		UPI00001BDA25	NM_173680.3	tolerated(0.29)		3/3																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	150397237	150397237	G	T	1	0	0	0	0	1	0	0	0	18731	1212	42	2		2	ZNF775	7	150397237	Missense_Mutation	SNP	G	C3N-00560_TP	569420	150397237	8948736	573	18512											
GIMAP6	0	.	GRCh38	chr7	150627867	150627867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgtagttctttcagcCgaaagttttgctgggtatat	7	18	9	7	1	2	0	1	0	1	0	3	1	3	0	2	1	2	5	2	1	4	8	rs774492534		C3N-00560_TP	C3N-00560_NB	C	C																c.941G>T	p.Arg314Leu	p.R314L	ENST00000618759	3/3	489	350	139	411	411	0	strelka-varscan-mutect	GIMAP6,missense_variant,p.Arg314Leu,ENST00000618759,NM_001244072.1;GIMAP6,missense_variant,p.Arg244Leu,ENST00000328902,NM_024711.5;GIMAP6,3_prime_UTR_variant,,ENST00000493969,NM_001244071.1;	A	ENST00000618759	Transcript	missense_variant	1421/3910	941/1089	314/362	R/L	cGg/cTg	rs774492534	1		-1	GIMAP6	HGNC	HGNC:21918	protein_coding	YES	CCDS75676.1	ENSP00000479580		B4DH95	UPI00017A6DF2	NM_001244072.1	tolerated(0.71)		3/3		hmmpanther:PTHR10903:SF51,hmmpanther:PTHR10903,Pfam_domain:PF04548																	MODERATE	1	SNV	2			1										PASS		rs774492534	.												A	3	1	57	150627867	150627867	C	A	1	0	0	0	0	1	0	0	0	6263	652	23	1		1	GIMAP6	7	150627867	Missense_Mutation	SNP	C	C3N-00560_TP	230630	150627867	8718106	574	18513											
GIMAP6	0	.	GRCh38	chr7	150628097	150628097	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagggagccgccagccagGtcttccttccgggtgaacac	7	7	12	15	2	1	1	0	1	1	0	4	2	4	2	6	3	3	0	6	3	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.711C>T	p.=	p.D237D	ENST00000618759	3/3	474	348	126	428	428	0	strelka-varscan-mutect	GIMAP6,synonymous_variant,p.=,ENST00000618759,NM_001244072.1;GIMAP6,synonymous_variant,p.=,ENST00000328902,NM_024711.5;GIMAP6,3_prime_UTR_variant,,ENST00000493969,NM_001244071.1;	A	ENST00000618759	Transcript	synonymous_variant	1191/3910	711/1089	237/362	D	gaC/gaT		1		-1	GIMAP6	HGNC	HGNC:21918	protein_coding	YES	CCDS75676.1	ENSP00000479580		B4DH95	UPI00017A6DF2	NM_001244072.1			3/3		PROSITE_profiles:PS51720,hmmpanther:PTHR10903:SF51,hmmpanther:PTHR10903,Pfam_domain:PF04548,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	LOW	1	SNV	2			1										PASS		rs1408493110	.												A	2	1	57	150628097	150628097	G	A	1	0	0	0	0	0	0	0	1	6263	1252	44	3		3	GIMAP6	7	150628097	Silent	SNP	G	C3N-00560_TP	230	150628097	8717876	575	18514											
GIMAP1	0	.	GRCh38	chr7	150720333	150720333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctacctgctctcggcccCcggaccccacgcgctgctcc	3	7	9	22	4	1	0	0	0	1	0	3	1	2	1	6	2	4	4	6	2	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.329C>A	p.Pro110His	p.P110H	ENST00000307194	3/3	130	89	41	96	96	0	strelka-varscan-mutect	GIMAP1,missense_variant,p.Pro110His,ENST00000307194,NM_130759.3;GIMAP1-GIMAP5,missense_variant,p.Pro110His,ENST00000611999,NM_001199577.1;GIMAP5,upstream_gene_variant,,ENST00000498181,;GIMAP1,downstream_gene_variant,,ENST00000464461,;	A	ENST00000307194	Transcript	missense_variant	469/4420	329/921	110/306	P/H	cCc/cAc		1		1	GIMAP1	HGNC	HGNC:23237	protein_coding	YES	CCDS5906.1	ENSP00000302833	Q8WWP7	A0A090N8Z4	UPI0000073C9B	NM_130759.3	deleterious(0)		3/3		Gene3D:3.40.50.300,Pfam_domain:PF04548,PROSITE_profiles:PS51720,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF74,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	150720333	150720333	C	A	1	0	0	0	0	1	0	0	0	6259	623	22	2		2	GIMAP1	7	150720333	Missense_Mutation	SNP	C	C3N-00560_TP	92236	150720333	8625640	576	18515											
ATG9B	0	.	GRCh38	chr7	151018836	151018836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggcgcgggccaggcgcGcgcgcagctcgtgcggcagc	4	3	20	14	8	0	0	0	0	0	0	1	0	0	0	1	5	3	4	1	5	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1502C>A	p.Ala501Glu	p.A501E	ENST00000605952	6/17	44	22	22	11	11	0	strelka-varscan-mutect	ATG9B,missense_variant,p.Ala501Glu,ENST00000469530,NM_173681.5;NOS3,downstream_gene_variant,,ENST00000297494,NM_000603.4;NOS3,downstream_gene_variant,,ENST00000461406,;ATG9B,intron_variant,,ENST00000617967,;ATG9B,upstream_gene_variant,,ENST00000611177,;ATG9B,downstream_gene_variant,,ENST00000473409,;NOS3,downstream_gene_variant,,ENST00000477227,;ATG9B,upstream_gene_variant,,ENST00000476282,;ATG9B,downstream_gene_variant,,ENST00000466157,;ATG9B,missense_variant,p.Ala501Glu,ENST00000605952,;ATG9B,upstream_gene_variant,,ENST00000404733,;ATG9B,downstream_gene_variant,,ENST00000473134,;ATG9B,upstream_gene_variant,,ENST00000471797,;	T	ENST00000605952	Transcript	missense_variant,NMD_transcript_variant	1578/4572	1502/2775	501/924	A/E	gCg/gAg		1		-1	ATG9B	HGNC	HGNC:21899	nonsense_mediated_decay	YES		ENSP00000475737	Q674R7		UPI00004286C0		deleterious(0.03)		6/17		Low_complexity_(Seg):seg,hmmpanther:PTHR13038:SF14,hmmpanther:PTHR13038,Pfam_domain:PF04109																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	57	151018836	151018836	G	T	1	0	0	0	0	1	0	0	0	1255	1087	38	1		1	ATG9B	7	151018836	Missense_Mutation	SNP	G	C3N-00560_TP	298503	151018836	8327137	577	18516											
ATG9B	0	.	GRCh38	chr7	151019333	151019333	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccgctgcagtgccaagagGcgggactgcacctctgccca	7	6	12	16	2	1	1	0	0	1	1	2	2	2	2	4	2	4	3	4	2	1	0	rs763437227		C3N-00560_TP	C3N-00560_NB	G	G																c.1005C>A	p.=	p.R335R	ENST00000605952	6/17	62	46	16	43	43	0	strelka-varscan-mutect	ATG9B,synonymous_variant,p.=,ENST00000469530,NM_173681.5;NOS3,downstream_gene_variant,,ENST00000297494,NM_000603.4;NOS3,downstream_gene_variant,,ENST00000461406,;ATG9B,intron_variant,,ENST00000617967,;ATG9B,upstream_gene_variant,,ENST00000611177,;ATG9B,downstream_gene_variant,,ENST00000473409,;ATG9B,upstream_gene_variant,,ENST00000476282,;ATG9B,downstream_gene_variant,,ENST00000466157,;ATG9B,synonymous_variant,p.=,ENST00000605952,;ATG9B,downstream_gene_variant,,ENST00000473134,;ATG9B,upstream_gene_variant,,ENST00000471797,;	T	ENST00000605952	Transcript	synonymous_variant,NMD_transcript_variant	1081/4572	1005/2775	335/924	R	cgC/cgA	rs763437227	1		-1	ATG9B	HGNC	HGNC:21899	nonsense_mediated_decay	YES		ENSP00000475737	Q674R7		UPI00004286C0				6/17		hmmpanther:PTHR13038:SF14,hmmpanther:PTHR13038,Pfam_domain:PF04109																	LOW		SNV	1			1										PASS		rs763437227	.												T	2	4	57	151019333	151019333	G	T	1	0	0	0	0	0	0	0	1	1255	1190	42	2		2	ATG9B	7	151019333	Silent	SNP	G	C3N-00560_TP	497	151019333	8326640	578	18517											
KMT2C	0	.	GRCh38	chr7	152229993	152229993	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagtaatcttccttctgctCcttggccaaaactgccacaa	11	11	5	14	0	2	0	0	0	2	0	4	0	4	0	4	1	3	2	4	1	5	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2906G>T	p.Gly969Val	p.G969V	ENST00000262189	18/59	191	180	11	262	262	0	varscan-mutect	KMT2C,missense_variant,p.Gly969Val,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Gly969Val,ENST00000355193,;KMT2C,missense_variant,p.Gly125Val,ENST00000418673,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	A	ENST00000262189	Transcript	missense_variant	3125/16862	2906/14736	969/4911	G/V	gGa/gTa		1		-1	KMT2C	HGNC	HGNC:13726	protein_coding	YES	CCDS5931.1	ENSP00000262189	Q8NEZ4		UPI0000141B9F	NM_170606.2	deleterious(0.02)		18/59		PROSITE_profiles:PS50016,hmmpanther:PTHR22884:SF373,hmmpanther:PTHR22884,Gene3D:3.30.40.10,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	152229993	152229993	C	A	1	0	0	0	0	1	0	0	0	8297	855	30	2		2	KMT2C	7	152229993	Missense_Mutation	SNP	C	C3N-00560_TP	1210660	152229993	7115980	579	18518											
ACTR3B	0	.	GRCh38	chr7	152854507	152854507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaggactatgaagagtacgGgcccagcatctgccgccaca	12	5	12	12	2	1	2	0	1	1	1	1	4	1	3	3	2	3	2	3	2	4	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1211G>T	p.Gly404Val	p.G404V	ENST00000256001	12/12	308	219	89	232	232	0	strelka-varscan-mutect	ACTR3B,missense_variant,p.Gly404Val,ENST00000256001,NM_020445.5;ACTR3B,missense_variant,p.Gly316Val,ENST00000397282,;ACTR3B,missense_variant,p.Gly334Val,ENST00000377776,NM_001040135.2;ACTR3B,non_coding_transcript_exon_variant,,ENST00000479402,;	T	ENST00000256001	Transcript	missense_variant	1345/2216	1211/1257	404/418	G/V	gGg/gTg		1		1	ACTR3B	HGNC	HGNC:17256	protein_coding	YES	CCDS5934.1	ENSP00000256001	Q9P1U1		UPI0000073AC7	NM_020445.5	deleterious(0)		12/12		hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF170,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	152854507	152854507	G	T	1	0	0	0	0	1	0	0	0	256	1232	43	2		2	ACTR3B	7	152854507	Missense_Mutation	SNP	G	C3N-00560_TP	624514	152854507	6491466	580	18519											
DPP6	0	.	GRCh38	chr7	154807092	154807092	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagccatagcatggactTcttcctgctcaagtgcgaag	9	11	9	12	1	3	0	2	0	1	0	4	2	4	1	2	1	4	2	2	1	3	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1646T>A	p.Phe549Tyr	p.F549Y	ENST00000377770	16/26	113	85	28	103	103	0	strelka-varscan-mutect	DPP6,missense_variant,p.Phe485Tyr,ENST00000404039,NM_001039350.2;DPP6,missense_variant,p.Phe487Tyr,ENST00000332007,NM_001936.4;DPP6,missense_variant,p.Phe549Tyr,ENST00000377770,NM_130797.3;DPP6,missense_variant,p.Phe442Tyr,ENST00000427557,NM_001290252.1;DPP6,non_coding_transcript_exon_variant,,ENST00000493268,;	A	ENST00000377770	Transcript	missense_variant	1787/3710	1646/2598	549/865	F/Y	tTc/tAc		1		1	DPP6	HGNC	HGNC:3010	protein_coding	YES	CCDS75683.1	ENSP00000367001	P42658		UPI00001AE746	NM_130797.3	tolerated(1)		16/26		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	154807092	154807092	T	A	1	0	0	0	0	1	0	0	0	4545	1783	62	4		4	DPP6	7	154807092	Missense_Mutation	SNP	T	C3N-00560_TP	1952585	154807092	4538881	581	18520											
CSMD1	0	.	GRCh38	chr8	2942483	2942483	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtacctgtgtttgtaGaggtaaaatgcaaaccctga	12	11	10	8	0	0	2	0	1	0	1	0	2	0	2	2	1	4	6	2	1	5	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.10527C>A	p.=	p.L3509L	ENST00000520002	70/71	58	29	29	76	76	0	strelka-varscan-mutect	CSMD1,synonymous_variant,p.=,ENST00000537824,;CSMD1,synonymous_variant,p.=,ENST00000335551,;CSMD1,synonymous_variant,p.=,ENST00000520002,;CSMD1,synonymous_variant,p.=,ENST00000602557,;CSMD1,synonymous_variant,p.=,ENST00000635120,NM_033225.5;CSMD1,synonymous_variant,p.=,ENST00000400186,;CSMD1,synonymous_variant,p.=,ENST00000602723,;	T	ENST00000520002	Transcript	synonymous_variant	11083/11740	10527/10698	3509/3565	L	ctC/ctA		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB				70/71		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,Transmembrane_helices:TMhelix																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	57	2942483	2942483	G	T	1	0	0	0	0	0	0	0	1	3745	929	33	2		2	CSMD1	8	2942483	Silent	SNP	G	C3N-00560_TP		2942483	142196153	582	18521											
CSMD1	0	.	GRCh38	chr8	3188962	3188962	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtatggctcagggtagccGggggacaggattgtacctct	7	9	15	10	2	2	0	1	0	1	0	2	2	2	2	3	5	2	4	3	5	3	4	rs200934039		C3N-00560_TP	C3N-00560_NB	G	G																c.5451C>A	p.=	p.P1817P	ENST00000520002	36/71	88	49	39	126	126	0	strelka-varscan-mutect	CSMD1,synonymous_variant,p.=,ENST00000537824,;CSMD1,synonymous_variant,p.=,ENST00000335551,;CSMD1,synonymous_variant,p.=,ENST00000520002,;CSMD1,synonymous_variant,p.=,ENST00000602557,;CSMD1,synonymous_variant,p.=,ENST00000635120,NM_033225.5;CSMD1,synonymous_variant,p.=,ENST00000400186,;CSMD1,synonymous_variant,p.=,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	T	ENST00000520002	Transcript	synonymous_variant	6007/11740	5451/10698	1817/3565	P	ccC/ccA	rs200934039	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB				36/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	LOW	1	SNV	5			1										PASS		rs200934039	.												T	2	4	57	3188962	3188962	G	T	1	0	0	0	0	0	0	0	1	3745	1103	39	1		1	CSMD1	8	3188962	Silent	SNP	G	C3N-00560_TP	246479	3188962	141949674	583	18522											
CSMD1	0	.	GRCh38	chr8	3396308	3396308	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgggtgccgtggtactCgccgatcagtggggacgaac	6	8	16	11	4	1	0	1	0	0	0	2	3	1	1	3	4	4	1	3	4	2	1	rs775334589		C3N-00560_TP	C3N-00560_NB	C	C																c.2482G>T	p.Glu828Ter	p.E828*	ENST00000520002	18/71	127	81	46	182	182	0	strelka-varscan-mutect	CSMD1,stop_gained,p.Glu689Ter,ENST00000537824,;CSMD1,stop_gained,p.Glu308Ter,ENST00000335551,;CSMD1,stop_gained,p.Glu828Ter,ENST00000520002,;CSMD1,stop_gained,p.Glu828Ter,ENST00000602557,;CSMD1,stop_gained,p.Glu827Ter,ENST00000635120,NM_033225.5;CSMD1,stop_gained,p.Glu828Ter,ENST00000400186,;CSMD1,stop_gained,p.Glu828Ter,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	A	ENST00000520002	Transcript	stop_gained	3038/11740	2482/10698	828/3565	E/*	Gag/Tag	rs775334589,COSM3648490,COSM3648491,COSM3648492	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB				18/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854											0,1,1,1						HIGH	1	SNV	5		0,1,1,1	1										PASS		rs775334589	.												A	4	1	57	3396308	3396308	C	A	1	0	0	0	0	0	1	0	0	3745	893	31	1		1	CSMD1	8	3396308	Nonsense_Mutation	SNP	C	C3N-00560_TP	207346	3396308	141742328	584	18523											
XKR5	0	.	GRCh38	chr8	6811213	6811213	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcagatgaaaaaactCggctcttgcttcatctgttc	9	14	9	9	1	4	2	2	1	2	1	6	2	4	2	0	2	2	3	0	2	3	3	rs368947710		C3N-00560_TP	C3N-00560_NB	C	C																c.2046G>T	p.=	p.P682P	ENST00000618742	7/7	71	36	35	101	101	0	strelka-varscan-mutect	XKR5,synonymous_variant,p.=,ENST00000618742,NM_207411.4,NM_001289973.1;XKR5,3_prime_UTR_variant,,ENST00000618990,;	A	ENST00000618742	Transcript	synonymous_variant	2197/4893	2046/2061	682/686	P	ccG/ccT	rs368947710	1		-1	XKR5	HGNC	HGNC:20782	protein_coding	YES		ENSP00000483879		A0A087X143	UPI0000EE786F	NM_207411.4,NM_001289973.1			7/7																			LOW	1	SNV	1			1										PASS		rs368947710	.												A	2	1	57	6811213	6811213	C	A	1	0	0	0	0	0	0	0	1	17993	871	31	1		1	XKR5	8	6811213	Silent	SNP	C	C3N-00560_TP	3414905	6811213	138327423	585	18524											
FAM160B2	0	.	GRCh38	chr8	22100915	22100915	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaactcccgcaaagcctcGcctagctcctgctaccagtt	9	9	6	17	2	1	0	1	0	0	0	4	0	3	0	5	0	5	4	5	0	4	3	rs547583857		C3N-00560_TP	C3N-00560_NB	G	G																c.1559G>T	p.Arg520Leu	p.R520L	ENST00000289921	12/17	197	126	71	289	289	0	strelka-varscan-mutect	FAM160B2,missense_variant,p.Arg520Leu,ENST00000289921,NM_022749.5;FAM160B2,missense_variant,p.Arg520Leu,ENST00000450006,;FAM160B2,non_coding_transcript_exon_variant,,ENST00000491733,;FAM160B2,non_coding_transcript_exon_variant,,ENST00000462914,;FAM160B2,downstream_gene_variant,,ENST00000488968,;FAM160B2,upstream_gene_variant,,ENST00000496599,;FAM160B2,downstream_gene_variant,,ENST00000427751,;FAM160B2,downstream_gene_variant,,ENST00000498344,;FAM160B2,downstream_gene_variant,,ENST00000464226,;FAM160B2,upstream_gene_variant,,ENST00000523633,;FAM160B2,upstream_gene_variant,,ENST00000477614,;FAM160B2,downstream_gene_variant,,ENST00000474579,;	T	ENST00000289921	Transcript	missense_variant	1605/4245	1559/2232	520/743	R/L	cGc/cTc	rs547583857	1		1	FAM160B2	HGNC	HGNC:16492	protein_coding	YES	CCDS6021.2	ENSP00000289921	Q86V87		UPI00006C5119	NM_022749.5	tolerated(0.34)		12/17		hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF9																	MODERATE	1	SNV	5			1										PASS		rs547583857	.												T	3	4	57	22100915	22100915	G	T	1	0	0	0	0	1	0	0	0	5320	1087	38	1		1	FAM160B2	8	22100915	Missense_Mutation	SNP	G	C3N-00560_TP	15289702	22100915	123037721	586	18525											
ESCO2	0	.	GRCh38	chr8	27803362	27803362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatagcattttctgaccCaacaccagatggcaagttat	14	11	7	9	0	1	3	0	2	1	1	1	3	1	3	2	1	2	3	2	1	5	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1730C>T	p.Pro577Leu	p.P577L	ENST00000305188	11/11	226	109	117	264	264	0	strelka-varscan-mutect	ESCO2,missense_variant,p.Pro577Leu,ENST00000305188,NM_001017420.2;ESCO2,missense_variant,p.Pro225Leu,ENST00000397418,;ESCO2,downstream_gene_variant,,ENST00000518262,;ESCO2,3_prime_UTR_variant,,ENST00000522378,;	T	ENST00000305188	Transcript	missense_variant	1968/3922	1730/1806	577/601	P/L	cCa/cTa		1		1	ESCO2	HGNC	HGNC:27230	protein_coding	YES	CCDS34872.1	ENSP00000306999	Q56NI9		UPI0000160D17	NM_001017420.2	deleterious(0)		11/11		Pfam_domain:PF13880,hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	27803362	27803362	C	T	1	0	0	0	0	1	0	0	0	5111	594	21	3		3	ESCO2	8	27803362	Missense_Mutation	SNP	C	C3N-00560_TP	5702447	27803362	117335274	587	18526											
RAB11FIP1	0	.	GRCh38	chr8	37873030	37873030	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggagaagacagaaggaCtctcagaggactgtgtgtct	13	7	15	6	0	2	5	1	0	2	5	3	9	2	7	0	3	0	0	0	3	2	0	rs769998709		C3N-00560_TP	C3N-00560_NB	C	C																c.1772G>T	p.Ser591Ile	p.S591I	ENST00000330843	4/6	218	90	128	202	202	0	strelka-varscan-mutect	RAB11FIP1,missense_variant,p.Ser591Ile,ENST00000330843,NM_001002814.2;RAB11FIP1,intron_variant,,ENST00000287263,NM_025151.4;RAB11FIP1,intron_variant,,ENST00000524118,;RAB11FIP1,intron_variant,,ENST00000522727,;RAB11FIP1,non_coding_transcript_exon_variant,,ENST00000523182,;RAB11FIP1,non_coding_transcript_exon_variant,,ENST00000522774,;	A	ENST00000330843	Transcript	missense_variant	1785/7811	1772/3852	591/1283	S/I	aGt/aTt	rs769998709	1		-1	RAB11FIP1	HGNC	HGNC:30265	protein_coding	YES	CCDS34882.1	ENSP00000331342	Q6WKZ4		UPI0000D624B1	NM_001002814.2	deleterious(0)		4/6		Low_complexity_(Seg):seg,hmmpanther:PTHR15746,hmmpanther:PTHR15746:SF22																	MODERATE	1	SNV	1			1										PASS		rs769998709	.												A	3	1	57	37873030	37873030	C	A	1	0	0	0	0	1	0	0	0	13051	565	20	2		2	RAB11FIP1	8	37873030	Missense_Mutation	SNP	C	C3N-00560_TP	10069668	37873030	107265606	588	18527											
PXDNL	0	.	GRCh38	chr8	51472249	51472249	+	Silent	SNP	G	G	T																															gcccggcaggtgaagtagacGgtatttcctgatggtacctc																								rs372855537		C3N-00560_TP	C3N-00560_NB	G	G																c.750C>A	p.=	p.T250T	ENST00000356297	8/23	195	66	129	158	158	0	strelka-varscan-mutect	PXDNL,synonymous_variant,p.=,ENST00000356297,NM_144651.4;	T	ENST00000356297	Transcript	synonymous_variant	851/4805	750/4392	250/1463	T	acC/acA	rs372855537,COSM2718559	1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4			8/23		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						LOW	1	SNV	1		0,1	1										PASS		rs372855537	.												T	2	4	57	51472249	51472249	G	T	1	0	0	0	0	0	0	0	1	13002	1103	39	1		1	PXDNL	8	51472249	Silent	SNP	G	C3N-00560_TP	13599219	51472249	93666387	589	18528	394	2									
PXDNL	0	.	GRCh38	chr8	51472250	51472250	+	Missense_Mutation	SNP	G	G	T																															cccggcaggtgaagtagacgGtatttcctgatggtacctcc																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.749C>A	p.Thr250Asn	p.T250N	ENST00000356297	8/23	195	67	128	157	157	0	strelka-varscan-mutect	PXDNL,missense_variant,p.Thr250Asn,ENST00000356297,NM_144651.4;	T	ENST00000356297	Transcript	missense_variant	850/4805	749/4392	250/1463	T/N	aCc/aAc		1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4	deleterious(0.04)		8/23		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	51472250	51472250	G	T	1	0	0	0	0	1	0	0	0	13002	1261	44	2		2	PXDNL	8	51472250	Missense_Mutation	SNP	G	C3N-00560_TP	1	51472250	93666386	590	18529	394	2									
PCMTD1	0	.	GRCh38	chr8	51861062	51861062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaatcgctctgaaggcttgCtccactctttcagtacgaat	9	13	7	12	2	4	1	2	1	2	0	6	2	5	1	1	1	2	4	1	1	4	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.90G>T	p.Glu30Asp	p.E30D	ENST00000360540	3/7	373	279	94	223	223	0	strelka-varscan-mutect	PCMTD1,missense_variant,p.Glu30Asp,ENST00000360540,NM_052937.3;PCMTD1,missense_variant,p.Glu30Asp,ENST00000521344,;PCMTD1,missense_variant,p.Glu30Asp,ENST00000522514,;PCMTD1,intron_variant,,ENST00000544451,NM_001286782.1;PCMTD1,intron_variant,,ENST00000519559,;PCMTD1,non_coding_transcript_exon_variant,,ENST00000521046,;PCMTD1,upstream_gene_variant,,ENST00000519975,;	A	ENST00000360540	Transcript	missense_variant	497/4252	90/1074	30/357	E/D	gaG/gaT		1		-1	PCMTD1	HGNC	HGNC:30483	protein_coding	YES	CCDS6148.1	ENSP00000353739	Q96MG8		UPI0000047CC0	NM_052937.3	deleterious(0.01)		3/7		Gene3D:3.40.50.150,Pfam_domain:PF01135,hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF4																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	51861062	51861062	C	A	1	0	0	0	0	1	0	0	0	11674	796	28	2		2	PCMTD1	8	51861062	Missense_Mutation	SNP	C	C3N-00560_TP	388812	51861062	93277574	591	18530											
PENK	0	.	GRCh38	chr8	56445681	56445681	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagacacccaggtcaccaCgggctcgcgccgctgcggct	6	5	13	17	5	1	1	1	1	0	1	2	2	1	1	3	3	1	3	3	3	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.273G>C	p.=	p.P91P	ENST00000518770	3/3	88	40	48	44	44	0	strelka-varscan-mutect	PENK,synonymous_variant,p.=,ENST00000518770,;PENK,intron_variant,,ENST00000314922,NM_006211.3;PENK,intron_variant,,ENST00000451791,NM_001135690.1;PENK,intron_variant,,ENST00000523051,;PENK,intron_variant,,ENST00000517415,;PENK,intron_variant,,ENST00000518974,;RP11-17A4.2,upstream_gene_variant,,ENST00000518662,;PENK,upstream_gene_variant,,ENST00000523274,;PENK,downstream_gene_variant,,ENST00000521153,;	G	ENST00000518770	Transcript	synonymous_variant	427/863	273/279	91/92	P	ccG/ccC		1		-1	PENK	HGNC	HGNC:8831	protein_coding			ENSP00000430592		E5RJ72	UPI000189235A				3/3																			LOW		SNV	1			1										PASS		.	.												G	2	3	57	56445681	56445681	C	G	1	0	0	0	0	0	0	0	1	11815	523	19	4		4	PENK	8	56445681	Silent	SNP	C	C3N-00560_TP	4584619	56445681	88692955	592	18531											
FAM110B	0	.	GRCh38	chr8	58147039	58147039	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgacagatatttccgagTggacgcggacgtggagaggt	10	8	17	6	4	0	3	0	1	0	2	1	8	1	5	1	4	0	0	1	4	1	2	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.809T>A	p.Val270Glu	p.V270E	ENST00000361488	5/5	440	323	117	231	230	1	strelka-varscan-mutect	FAM110B,missense_variant,p.Val270Glu,ENST00000361488,NM_147189.2;FAM110B,intron_variant,,ENST00000520369,;FAM110B,intron_variant,,ENST00000523486,;FAM110B,downstream_gene_variant,,ENST00000519262,;FAM110B,downstream_gene_variant,,ENST00000522059,;FAM110B,downstream_gene_variant,,ENST00000521413,;	A	ENST00000361488	Transcript	missense_variant	1689/3438	809/1113	270/370	V/E	gTg/gAg		1		1	FAM110B	HGNC	HGNC:28587	protein_coding	YES	CCDS6170.1	ENSP00000355204	Q8TC76	A0A024R7V5	UPI000006E853	NM_147189.2	deleterious(0)		5/5		Pfam_domain:PF14160,hmmpanther:PTHR14758,hmmpanther:PTHR14758:SF2																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	58147039	58147039	T	A	1	0	0	0	0	1	0	0	0	5261	1696	59	4		4	FAM110B	8	58147039	Missense_Mutation	SNP	T	C3N-00560_TP	1701358	58147039	86991597	593	18532											
UBXN2B	0	.	GRCh38	chr8	58446059	58446059	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgatacaaagattcaataGtacacacaggtaagcttctt	15	13	6	7	0	2	2	1	1	1	1	2	2	2	2	0	1	3	3	0	1	6	8	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.824G>C	p.Ser275Thr	p.S275T	ENST00000399598	7/8	60	30	30	69	69	0	strelka-varscan-mutect	UBXN2B,missense_variant,p.Ser275Thr,ENST00000399598,NM_001077619.1;UBXN2B,3_prime_UTR_variant,,ENST00000523409,;UBXN2B,3_prime_UTR_variant,,ENST00000520732,;	C	ENST00000399598	Transcript	missense_variant	946/5068	824/996	275/331	S/T	aGt/aCt		1		1	UBXN2B	HGNC	HGNC:27035	protein_coding	YES	CCDS43741.1	ENSP00000382507	Q14CS0		UPI000013F1FC	NM_001077619.1	tolerated(0.13)		7/8		Gene3D:3.10.20.90,Pfam_domain:PF00789,PROSITE_profiles:PS50033,hmmpanther:PTHR23333,hmmpanther:PTHR23333:SF14,SMART_domains:SM00166,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		rs1410479667	.												C	3	2	57	58446059	58446059	G	C	1	0	0	0	0	1	0	0	0	17439	1029	36	4		4	UBXN2B	8	58446059	Missense_Mutation	SNP	G	C3N-00560_TP	299020	58446059	86692577	594	18533											
TOX	0	.	GRCh38	chr8	58815508	58815508	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatgtttgctatagagaCagtcactggcatttggttat	10	14	10	7	0	1	1	1	0	0	1	1	2	1	1	1	2	2	4	1	2	3	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1222G>T	p.Val408Phe	p.V408F	ENST00000361421	7/9	150	79	71	132	132	0	strelka-varscan-mutect	TOX,missense_variant,p.Val408Phe,ENST00000361421,NM_014729.2;RNU4-50P,upstream_gene_variant,,ENST00000364361,;	A	ENST00000361421	Transcript	missense_variant	1443/4131	1222/1581	408/526	V/F	Gtc/Ttc		1		-1	TOX	HGNC	HGNC:18988	protein_coding	YES	CCDS34897.1	ENSP00000354842	O94900		UPI0000070A73	NM_014729.2	tolerated(0.06)		7/9		hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF155																	MODERATE	1	SNV	1			1										PASS		rs1247571532	.												A	3	1	57	58815508	58815508	C	A	1	0	0	0	0	1	0	0	0	16855	478	17	2		2	TOX	8	58815508	Missense_Mutation	SNP	C	C3N-00560_TP	369449	58815508	86323128	595	18534											
BHLHE22	0	.	GRCh38	chr8	64581222	64581222	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgagagcagcggcggCgagcagagccccgacgacga	9	1	18	13	7	0	2	0	0	0	2	0	7	0	2	3	3	4	2	3	3	0	0	rs780153535		C3N-00560_TP	C3N-00560_NB	C	C																c.432C>A	p.=	p.G144G	ENST00000321870	1/1	128	109	19	44	44	0	strelka-varscan-mutect	BHLHE22,synonymous_variant,p.=,ENST00000321870,NM_152414.4;RP11-21C4.1,intron_variant,,ENST00000517909,;RP11-21C4.1,upstream_gene_variant,,ENST00000520834,;	A	ENST00000321870	Transcript	synonymous_variant	856/3262	432/1146	144/381	G	ggC/ggA	rs780153535	1		1	BHLHE22	HGNC	HGNC:11963	protein_coding	YES	CCDS6179.1	ENSP00000318799	Q8NFJ8		UPI0000070A3C	NM_152414.4			1/1		hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF52																	LOW		SNV				1										PASS		rs780153535	.												A	2	1	57	64581222	64581222	C	A	1	0	0	0	0	0	0	0	1	1569	755	27	1		1	BHLHE22	8	64581222	Silent	SNP	C	C3N-00560_TP	5765714	64581222	80557414	596	18535											
VCPIP1	0	.	GRCh38	chr8	66665161	66665161	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctctgaccactcttcCaccccattctaaagtaatag	10	14	4	13	0	3	1	0	1	3	0	5	1	4	1	4	0	0	2	4	0	4	6	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1798G>T	p.Gly600Ter	p.G600*	ENST00000310421	1/3	94	61	33	52	52	0	strelka-varscan-mutect	VCPIP1,stop_gained,p.Gly600Ter,ENST00000310421,NM_025054.4;C8orf44-SGK3,upstream_gene_variant,,ENST00000519289,NM_001204173.1;C8orf44,upstream_gene_variant,,ENST00000519561,NM_019607.2;C8orf44,upstream_gene_variant,,ENST00000521889,;C8orf44-SGK3,upstream_gene_variant,,ENST00000520044,;C8orf44,upstream_gene_variant,,ENST00000521113,;	A	ENST00000310421	Transcript	stop_gained	2057/9942	1798/3669	600/1222	G/*	Gga/Tga		1		-1	VCPIP1	HGNC	HGNC:30897	protein_coding	YES	CCDS6192.1	ENSP00000309031	Q96JH7		UPI00001D3EF3	NM_025054.4			1/3		hmmpanther:PTHR14843,hmmpanther:PTHR14843:SF2																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	66665161	66665161	C	A	1	0	0	0	0	0	1	0	0	17686	603	21	2		2	VCPIP1	8	66665161	Nonsense_Mutation	SNP	C	C3N-00560_TP	2083939	66665161	78473475	597	18536											
VCPIP1	0	.	GRCh38	chr8	66666462	66666462	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttctatgaggaaggcgCggtcacccagtaaggcgcaa	10	7	14	10	3	2	1	1	1	1	0	2	2	2	2	1	5	0	3	1	5	4	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.497G>T	p.Arg166Leu	p.R166L	ENST00000310421	1/3	319	229	90	200	200	0	strelka-varscan-mutect	VCPIP1,missense_variant,p.Arg166Leu,ENST00000310421,NM_025054.4;C8orf44-SGK3,upstream_gene_variant,,ENST00000519289,NM_001204173.1;C8orf44,upstream_gene_variant,,ENST00000519561,NM_019607.2;C8orf44,upstream_gene_variant,,ENST00000521889,;C8orf44-SGK3,upstream_gene_variant,,ENST00000520044,;C8orf44,upstream_gene_variant,,ENST00000521113,;	A	ENST00000310421	Transcript	missense_variant	756/9942	497/3669	166/1222	R/L	cGc/cTc		1		-1	VCPIP1	HGNC	HGNC:30897	protein_coding	YES	CCDS6192.1	ENSP00000309031	Q96JH7		UPI00001D3EF3	NM_025054.4	deleterious(0)		1/3		hmmpanther:PTHR14843,hmmpanther:PTHR14843:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	66666462	66666462	C	A	1	0	0	0	0	1	0	0	0	17686	768	27	1		1	VCPIP1	8	66666462	Missense_Mutation	SNP	C	C3N-00560_TP	1301	66666462	78472174	598	18537											
NCOA2	0	.	GRCh38	chr8	70157050	70157050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagaaccaccaaacctgcCcatgggcatgcccatttgtt	10	8	7	16	0	0	1	0	0	0	1	0	1	0	1	6	1	4	2	6	1	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1315G>T	p.Gly439Cys	p.G439C	ENST00000452400	11/23	354	309	45	249	249	0	strelka-varscan-mutect	NCOA2,missense_variant,p.Gly439Cys,ENST00000452400,NM_001321703.1,NM_001321707.1,NM_001321713.1,NM_006540.2;NCOA2,intron_variant,,ENST00000524223,;NCOA2,missense_variant,p.Gly439Cys,ENST00000518287,;	A	ENST00000452400	Transcript	missense_variant	1497/8447	1315/4395	439/1464	G/C	Ggc/Tgc		1		-1	NCOA2	HGNC	HGNC:7669	protein_coding	YES	CCDS47872.1	ENSP00000399968	Q15596		UPI000012FE42	NM_001321703.1,NM_001321707.1,NM_001321713.1,NM_006540.2	tolerated(0.12)		11/23		Low_complexity_(Seg):seg,hmmpanther:PTHR10684,hmmpanther:PTHR10684:SF2,PIRSF_domain:PIRSF038181																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	70157050	70157050	C	A	1	0	0	0	0	1	0	0	0	10248	623	22	2		2	NCOA2	8	70157050	Missense_Mutation	SNP	C	C3N-00560_TP	3490588	70157050	74981586	599	18538											
TRPA1	0	.	GRCh38	chr8	72033649	72033649	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaaaactacttacaagtaAattcatgaggacaattggga	19	9	8	5	0	1	1	1	1	0	0	1	4	1	3	0	2	3	1	0	2	9	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.2863T>A	p.Leu955Ile	p.L955I	ENST00000262209	23/27	280	258	22	210	210	0	strelka-varscan-mutect	TRPA1,missense_variant,p.Leu955Ile,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Leu807Ile,ENST00000523582,;MSC-AS1,intron_variant,,ENST00000457356,;MSC-AS1,intron_variant,,ENST00000522519,;MSC-AS1,intron_variant,,ENST00000518916,;MSC-AS1,intron_variant,,ENST00000512290,;MSC-AS1,intron_variant,,ENST00000519751,;MSC-AS1,intron_variant,,ENST00000524152,;MSC-AS1,intron_variant,,ENST00000519068,;TRPA1,downstream_gene_variant,,ENST00000519720,;	T	ENST00000262209	Transcript	missense_variant	3071/5223	2863/3360	955/1119	L/I	Tta/Ata		1		-1	TRPA1	HGNC	HGNC:497	protein_coding	YES	CCDS34908.1	ENSP00000262209	O75762		UPI000021081A	NM_007332.2	deleterious(0)		23/27		Pfam_domain:PF00520,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF6,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	72033649	72033649	A	T	1	0	0	0	0	1	0	0	0	17082	28	1	4		4	TRPA1	8	72033649	Missense_Mutation	SNP	A	C3N-00560_TP	1876599	72033649	73104987	600	18539											
KCNB2	0	.	GRCh38	chr8	72936439	72936439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgagaaggatgaagatGctaccaagttcaccagtatc	13	10	10	8	0	1	3	1	2	0	2	2	5	1	4	2	1	3	4	2	1	5	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1084G>A	p.Ala362Thr	p.A362T	ENST00000523207	3/3	219	152	67	146	146	0	strelka-varscan-mutect	KCNB2,missense_variant,p.Ala362Thr,ENST00000523207,NM_004770.2;	A	ENST00000523207	Transcript	missense_variant	1672/3582	1084/2736	362/911	A/T	Gct/Act		1		1	KCNB2	HGNC	HGNC:6232	protein_coding	YES	CCDS6209.1	ENSP00000430846	Q92953		UPI000012DC85	NM_004770.2	tolerated(0.58)		3/3		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF134,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	72936439	72936439	G	A	1	0	0	0	0	1	0	0	0	7929	1319	46	3		3	KCNB2	8	72936439	Missense_Mutation	SNP	G	C3N-00560_TP	902790	72936439	72202197	601	18540											
KCNB2	0	.	GRCh38	chr8	72937269	72937269	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttcccaaccgacctcccAgggacagaagagcaccaaag	15	3	9	14	1	0	2	0	0	0	2	2	4	2	3	5	1	2	2	5	1	4	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1914A>T	p.=	p.P638P	ENST00000523207	3/3	572	513	59	303	302	1	strelka-varscan-mutect	KCNB2,synonymous_variant,p.=,ENST00000523207,NM_004770.2;	T	ENST00000523207	Transcript	synonymous_variant	2502/3582	1914/2736	638/911	P	ccA/ccT		1		1	KCNB2	HGNC	HGNC:6232	protein_coding	YES	CCDS6209.1	ENSP00000430846	Q92953		UPI000012DC85	NM_004770.2			3/3		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF134,Pfam_domain:PF03521																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	72937269	72937269	A	T	1	0	0	0	0	0	0	0	1	7929	175	7	4		4	KCNB2	8	72937269	Silent	SNP	A	C3N-00560_TP	830	72937269	72201367	602	18541											
CRISPLD1	0	.	GRCh38	chr8	75032218	75032218	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctccaggaggaaaggcAttcagagtgtttgctgttgt	10	12	12	7	0	1	1	1	0	0	1	3	3	3	3	2	3	1	4	2	3	2	3	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1479A>G	p.=	p.A493A	ENST00000262207	15/15	108	101	7	117	117	0	varscan-mutect	CRISPLD1,synonymous_variant,p.=,ENST00000262207,NM_031461.5;CRISPLD1,synonymous_variant,p.=,ENST00000523524,NM_001286778.1;CRISPLD1,synonymous_variant,p.=,ENST00000517786,NM_001286777.1;RP11-300E4.2,upstream_gene_variant,,ENST00000520778,;	G	ENST00000262207	Transcript	synonymous_variant	1947/4287	1479/1503	493/500	A	gcA/gcG		1		1	CRISPLD1	HGNC	HGNC:18206	protein_coding	YES	CCDS6219.1	ENSP00000262207	Q9H336		UPI00000422F5	NM_031461.5			15/15		Gene3D:1jbiA00,Superfamily_domains:0039469																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	57	75032218	75032218	A	G	1	0	0	0	0	0	0	0	1	3683	204	8	5		5	CRISPLD1	8	75032218	Silent	SNP	A	C3N-00560_TP	2094949	75032218	70106418	603	18542											
HNF4G	0	.	GRCh38	chr8	75559038	75559038	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaggaaatgctattaggtgGtgagtacattgaataatttc	13	14	10	4	0	1	2	1	2	0	0	2	3	1	3	0	3	2	2	0	3	6	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1093+1G>T		p.X365_splice	ENST00000396423		238	93	145	151	151	0	strelka-varscan-mutect	HNF4G,splice_donor_variant,,ENST00000396423,NM_004133.4;HNF4G,splice_donor_variant,,ENST00000354370,;	T	ENST00000396423	Transcript	splice_donor_variant	-/4209	1093/1338	365/445				1		1	HNF4G	HGNC	HGNC:5026	protein_coding	YES	CCDS6220.2	ENSP00000379701	Q14541	F1D8Q4	UPI0000D47E07	NM_004133.4				8/9																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	57	75559038	75559038	G	T	1	0	0	0	0	0	0	1	0	7145	1275	44	2		2	HNF4G	8	75559038	Splice_Site	SNP	G	C3N-00560_TP	526820	75559038	69579598	604	18543											
ZFHX4	0	.	GRCh38	chr8	76705024	76705024	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgacgaggagcagaagctCctcagtaataaatgcgtctc	14	8	10	9	2	2	2	1	1	1	1	4	4	3	3	1	1	3	3	1	1	5	2	rs759670574		C3N-00560_TP	C3N-00560_NB	C	C																c.936C>A	p.=	p.L312L	ENST00000521891	2/11	289	195	94	192	192	0	strelka-varscan-mutect	ZFHX4,synonymous_variant,p.=,ENST00000521891,NM_024721.4;ZFHX4,synonymous_variant,p.=,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	A	ENST00000521891	Transcript	synonymous_variant	1384/14019	936/10851	312/3616	L	ctC/ctA	rs759670574	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4			2/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	LOW	1	SNV	5			1										PASS		rs759670574	.												A	2	1	57	76705024	76705024	C	A	1	0	0	0	0	0	0	0	1	18213	842	30	2		2	ZFHX4	8	76705024	Silent	SNP	C	C3N-00560_TP	1145986	76705024	68433612	605	18544											
ZFHX4	0	.	GRCh38	chr8	76852550	76852550	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatttataagtgaaggtGaaggactcaaagaaggcaaa	19	7	12	3	0	1	3	1	2	0	1	1	5	1	5	0	4	0	1	0	4	8	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.5629G>T	p.Glu1877Ter	p.E1877*	ENST00000521891	10/11	237	212	25	175	175	0	strelka-varscan-mutect	ZFHX4,stop_gained,p.Glu1877Ter,ENST00000521891,NM_024721.4;ZFHX4,stop_gained,p.Glu1851Ter,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;	T	ENST00000521891	Transcript	stop_gained	6077/14019	5629/10851	1877/3616	E/*	Gaa/Taa		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4			10/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	57	76852550	76852550	G	T	1	0	0	0	0	0	1	0	0	18213	1291	45	2		2	ZFHX4	8	76852550	Nonsense_Mutation	SNP	G	C3N-00560_TP	147526	76852550	68286086	606	18545											
ZFHX4	0	.	GRCh38	chr8	76855952	76855952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaaaccagagtgtaccCtctgcggggtgaagtactct	10	8	11	12	1	2	2	0	1	2	1	2	2	2	2	3	2	4	3	3	2	4	2	rs762923975		C3N-00560_TP	C3N-00560_NB	C	C																c.9031C>A	p.Leu3011Ile	p.L3011I	ENST00000521891	10/11	339	305	34	205	204	1	strelka-varscan-mutect	ZFHX4,missense_variant,p.Leu3011Ile,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Leu2985Ile,ENST00000518282,;	A	ENST00000521891	Transcript	missense_variant	9479/14019	9031/10851	3011/3616	L/I	Ctc/Atc	rs762923975	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	tolerated(0.07)		10/11		PROSITE_patterns:PS00028,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00355,SMART_domains:SM00451,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		rs762923975	.												A	3	1	57	76855952	76855952	C	A	1	0	0	0	0	1	0	0	0	18213	681	24	2		2	ZFHX4	8	76855952	Missense_Mutation	SNP	C	C3N-00560_TP	3402	76855952	68282684	607	18546											
ZBTB10	0	.	GRCh38	chr8	80487522	80487522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacttcccgctcgcgCggcccaagtctctaatgcag	7	8	9	17	4	1	0	0	0	1	0	5	0	3	0	3	1	2	3	3	1	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.712C>T	p.Arg238Trp	p.R238W	ENST00000430430	2/7	409	162	247	214	213	1	strelka-varscan-mutect	ZBTB10,missense_variant,p.Arg238Trp,ENST00000430430,;ZBTB10,missense_variant,p.Arg238Trp,ENST00000426744,NM_023929.4;ZBTB10,missense_variant,p.Arg238Trp,ENST00000455036,NM_001105539.2;ZBTB10,missense_variant,p.Arg65Trp,ENST00000610895,;ZBTB10,intron_variant,,ENST00000379091,NM_001277145.1;RP11-48B3.5,upstream_gene_variant,,ENST00000605948,;Y_RNA,upstream_gene_variant,,ENST00000516058,;	T	ENST00000430430	Transcript	missense_variant	1491/10132	712/2616	238/871	R/W	Cgg/Tgg		1		1	ZBTB10	HGNC	HGNC:30953	protein_coding	YES	CCDS47880.1	ENSP00000387462	Q96DT7		UPI0000E5AEF3		deleterious_low_confidence(0)		2/7		hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF27																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	80487522	80487522	C	T	1	0	0	0	0	1	0	0	0	18089	759	27	1		1	ZBTB10	8	80487522	Missense_Mutation	SNP	C	C3N-00560_TP	3631570	80487522	64651114	608	18547											
ZBTB10	0	.	GRCh38	chr8	80499883	80499883	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgagtgaagttgttcaaacTtgccgaaatttcattaaaga	15	13	8	5	1	2	3	2	2	0	1	2	4	2	3	1	0	2	2	1	0	5	5	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1362T>C	p.=	p.T454T	ENST00000430430	3/7	275	256	19	172	172	0	strelka-varscan-mutect	ZBTB10,synonymous_variant,p.=,ENST00000430430,;ZBTB10,synonymous_variant,p.=,ENST00000426744,NM_023929.4;ZBTB10,synonymous_variant,p.=,ENST00000455036,NM_001105539.2;ZBTB10,synonymous_variant,p.=,ENST00000610895,;ZBTB10,synonymous_variant,p.=,ENST00000379091,NM_001277145.1;	C	ENST00000430430	Transcript	synonymous_variant	2141/10132	1362/2616	454/871	T	acT/acC		1		1	ZBTB10	HGNC	HGNC:30953	protein_coding	YES	CCDS47880.1	ENSP00000387462	Q96DT7		UPI0000E5AEF3				3/7		Gene3D:3.30.710.10,Pfam_domain:PF00651,hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF27,SMART_domains:SM00225,Superfamily_domains:SSF54695																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	57	80499883	80499883	T	C	1	0	0	0	0	0	0	0	1	18089	1596	56	5		5	ZBTB10	8	80499883	Silent	SNP	T	C3N-00560_TP	12361	80499883	64638753	609	18548											
PMP2	0	.	GRCh38	chr8	81444856	81444856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggtttcttcaaattcCtggcctagcttgaaggagat	8	14	11	8	0	2	2	1	1	1	1	3	3	3	2	2	3	1	3	2	3	3	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.207G>T	p.Gln69His	p.Q69H	ENST00000256103	2/4	242	220	22	175	175	0	strelka-varscan-mutect	PMP2,missense_variant,p.Gln69His,ENST00000256103,NM_002677.3;PMP2,intron_variant,,ENST00000519260,;RP11-157I4.4,intron_variant,,ENST00000524085,;	A	ENST00000256103	Transcript	missense_variant	344/3608	207/399	69/132	Q/H	caG/caT		1		-1	PMP2	HGNC	HGNC:9117	protein_coding	YES	CCDS6229.1	ENSP00000256103	P02689		UPI000013CEEB	NM_002677.3	deleterious(0.01)		2/4		hmmpanther:PTHR11955:SF64,hmmpanther:PTHR11955,Gene3D:2.40.128.20,Pfam_domain:PF00061,Superfamily_domains:SSF50814,Prints_domain:PR00178																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	81444856	81444856	C	A	1	0	0	0	0	1	0	0	0	12245	680	24	2		2	PMP2	8	81444856	Missense_Mutation	SNP	C	C3N-00560_TP	944973	81444856	63693780	610	18549											
CNGB3	0	.	GRCh38	chr8	86604200	86604200	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgatatacatttccttGccaatttctccctacatttt	9	19	3	10	0	1	2	0	2	1	0	3	2	2	2	3	0	3	0	3	0	4	9	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1674C>T	p.=	p.G558G	ENST00000320005	15/18	326	281	45	263	263	0	strelka-varscan-mutect	CNGB3,synonymous_variant,p.=,ENST00000320005,NM_019098.4;	A	ENST00000320005	Transcript	synonymous_variant	1722/4347	1674/2430	558/809	G	ggC/ggT		1		-1	CNGB3	HGNC	HGNC:2153	protein_coding	YES	CCDS6244.1	ENSP00000316605	Q9NQW8		UPI000014076F	NM_019098.4			15/18		PROSITE_profiles:PS50042,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF385,PROSITE_patterns:PS00888,Pfam_domain:PF00027,Gene3D:2.60.120.10,SMART_domains:SM00100,Superfamily_domains:SSF51206																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	86604200	86604200	G	A	1	0	0	0	0	0	0	0	1	3381	1306	46	3		3	CNGB3	8	86604200	Silent	SNP	G	C3N-00560_TP	5159344	86604200	58534436	611	18550											
DCAF4L2	0	.	GRCh38	chr8	87873898	87873898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttcgtagcatggaaggtGcattgagtcccactctgact	8	13	10	10	1	2	2	0	2	2	0	4	3	3	3	1	2	2	3	1	2	2	3	rs185686116		C3N-00560_TP	C3N-00560_NB	G	G																c.74C>A	p.Ala25Glu	p.A25E	ENST00000319675	1/1	391	184	207	301	301	0	strelka-varscan-mutect	DCAF4L2,missense_variant,p.Ala25Glu,ENST00000319675,NM_152418.3;	T	ENST00000319675	Transcript	missense_variant	171/3326	74/1188	25/395	A/E	gCa/gAa	rs185686116	1		-1	DCAF4L2	HGNC	HGNC:26657	protein_coding	YES	CCDS6245.1	ENSP00000316496	Q8NA75		UPI0000072860	NM_152418.3	deleterious(0.03)		1/1		hmmpanther:PTHR22847:SF457,hmmpanther:PTHR22847																	MODERATE	1	SNV				1										PASS		rs185686116	.												T	3	4	57	87873898	87873898	G	T	1	0	0	0	0	1	0	0	0	4073	1319	46	2		2	DCAF4L2	8	87873898	Missense_Mutation	SNP	G	C3N-00560_TP	1269698	87873898	57264738	612	18551											
NECAB1	0	.	GRCh38	chr8	90824774	90824774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcagatggtgttctcaGtggagaagaattacacgagc	11	12	12	6	1	1	3	1	0	1	3	2	5	1	3	0	2	3	2	0	2	3	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.182G>A	p.Ser61Asn	p.S61N	ENST00000417640	3/13	129	108	21	127	127	0	strelka-varscan-mutect	NECAB1,missense_variant,p.Ser61Asn,ENST00000417640,NM_022351.4;RP11-662G23.1,intron_variant,,ENST00000517884,;NECAB1,non_coding_transcript_exon_variant,,ENST00000521954,;NECAB1,non_coding_transcript_exon_variant,,ENST00000523962,;NECAB1,non_coding_transcript_exon_variant,,ENST00000522729,;	A	ENST00000417640	Transcript	missense_variant	519/5289	182/1056	61/351	S/N	aGt/aAt		1		1	NECAB1	HGNC	HGNC:20983	protein_coding	YES	CCDS47889.1	ENSP00000387380	Q8N987		UPI0000070EEA	NM_022351.4	tolerated(0.14)		3/13		PROSITE_profiles:PS50222,hmmpanther:PTHR12178,hmmpanther:PTHR12178:SF11,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	90824774	90824774	G	A	1	0	0	0	0	1	0	0	0	10328	1029	36	3		3	NECAB1	8	90824774	Missense_Mutation	SNP	G	C3N-00560_TP	2950876	90824774	54313862	613	18552											
DPY19L4	0	.	GRCh38	chr8	94765753	94765753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagctaaaataataaaaGtgattaatttttacttggtg	15	17	7	2	0	0	1	0	1	0	0	0	1	0	1	0	1	2	2	0	1	8	10	rs770626744		C3N-00560_TP	C3N-00560_NB	G	G																c.1045G>T	p.Val349Leu	p.V349L	ENST00000414645	10/19	113	101	12	112	112	0	strelka-varscan-mutect	DPY19L4,missense_variant,p.Val349Leu,ENST00000414645,NM_181787.2;DPY19L4,missense_variant,p.Val149Leu,ENST00000523020,;	T	ENST00000414645	Transcript	missense_variant	1144/6197	1045/2172	349/723	V/L	Gtg/Ttg	rs770626744	1		1	DPY19L4	HGNC	HGNC:27829	protein_coding	YES	CCDS34924.1	ENSP00000389630	Q7Z388	A0A024R9F2	UPI00001A9D7A	NM_181787.2	tolerated(1)		10/19		Transmembrane_helices:TMhelix,hmmpanther:PTHR31488:SF2,hmmpanther:PTHR31488,Pfam_domain:PF10034																	MODERATE	1	SNV	1			1										PASS		rs780973978	.												T	3	4	57	94765753	94765753	G	T	1	0	0	0	0	1	0	0	0	4558	1029	36	2		2	DPY19L4	8	94765753	Missense_Mutation	SNP	G	C3N-00560_TP	3940979	94765753	50372883	614	18553											
MATN2	0	.	GRCh38	chr8	97961424	97961424	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtccaggatctgtgtgcCatggaggaccacaactgtga	10	9	12	10	0	2	1	1	1	1	0	3	4	3	4	3	3	2	0	3	3	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.852C>A	p.=	p.A284A	ENST00000254898	5/19	160	82	78	106	106	0	strelka-varscan-mutect	MATN2,synonymous_variant,p.=,ENST00000254898,NM_002380.3;MATN2,synonymous_variant,p.=,ENST00000521689,NM_030583.2;MATN2,synonymous_variant,p.=,ENST00000520016,;MATN2,synonymous_variant,p.=,ENST00000524308,;MATN2,synonymous_variant,p.=,ENST00000521041,;MATN2,5_prime_UTR_variant,,ENST00000522025,;MATN2,5_prime_UTR_variant,,ENST00000519585,;MATN2,intron_variant,,ENST00000518154,;MATN2,upstream_gene_variant,,ENST00000522270,;MATN2,non_coding_transcript_exon_variant,,ENST00000523490,;	A	ENST00000254898	Transcript	synonymous_variant	1083/4106	852/2871	284/956	A	gcC/gcA		1		1	MATN2	HGNC	HGNC:6908	protein_coding	YES	CCDS55264.1	ENSP00000254898	O00339	A0A140VKH7	UPI000021037B	NM_002380.3			5/19		Gene3D:2.10.25.10,Pfam_domain:PF07645,hmmpanther:PTHR11132,SMART_domains:SM00181,Superfamily_domains:SSF57184																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	97961424	97961424	C	A	1	0	0	0	0	0	0	0	1	9260	581	21	2		2	MATN2	8	97961424	Silent	SNP	C	C3N-00560_TP	3195671	97961424	47177212	615	18554											
DPYS	0	.	GRCh38	chr8	104381264	104381264	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcactctggatttcagtgtGgcgacttctcccttataggg	6	14	11	10	1	4	0	2	0	2	0	5	2	4	1	1	3	0	0	1	3	2	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1494C>T	p.=	p.A498A	ENST00000351513	9/10	492	400	92	402	402	0	strelka-varscan-mutect	DPYS,synonymous_variant,p.=,ENST00000351513,NM_001385.2;DPYS,intron_variant,,ENST00000533874,;DPYS,non_coding_transcript_exon_variant,,ENST00000521601,;DPYS,non_coding_transcript_exon_variant,,ENST00000521372,;DPYS,non_coding_transcript_exon_variant,,ENST00000520483,;DPYS,non_coding_transcript_exon_variant,,ENST00000520806,;	A	ENST00000351513	Transcript	synonymous_variant	1627/2127	1494/1560	498/519	A	gcC/gcT		1		-1	DPYS	HGNC	HGNC:3013	protein_coding	YES	CCDS6302.1	ENSP00000276651	Q14117		UPI000012986F	NM_001385.2			9/10		hmmpanther:PTHR11647:SF50,hmmpanther:PTHR11647																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	104381264	104381264	G	A	1	0	0	0	0	0	0	0	1	4561	1335	47	3		3	DPYS	8	104381264	Silent	SNP	G	C3N-00560_TP	6419840	104381264	40757372	616	18555											
LRP12	0	.	GRCh38	chr8	104491071	104491071	+	Missense_Mutation	SNP	T	T	C																															agtcatacgactgagtgcacTtgtaagctggtgacgtgctg																										C3N-00560_TP	C3N-00560_NB	T	T																c.2182A>G	p.Ser728Gly	p.S728G	ENST00000276654	7/7	240	124	116	208	208	0	strelka-varscan-mutect	LRP12,missense_variant,p.Ser728Gly,ENST00000276654,NM_013437.4;LRP12,missense_variant,p.Ser709Gly,ENST00000424843,NM_001135703.2;LRP12,downstream_gene_variant,,ENST00000523007,;LRP12,non_coding_transcript_exon_variant,,ENST00000518375,;LRP12,downstream_gene_variant,,ENST00000522046,;	C	ENST00000276654	Transcript	missense_variant	2291/4112	2182/2580	728/859	S/G	Agt/Ggt	COSM603651	1		-1	LRP12	HGNC	HGNC:31708	protein_coding	YES	CCDS6303.1	ENSP00000276654	Q9Y561		UPI0000047A9F	NM_013437.4	deleterious(0.04)		7/7		hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF216											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	57	104491071	104491071	T	C	1	0	0	0	0	1	0	0	0	8849	1609	56	5		5	LRP12	8	104491071	Missense_Mutation	SNP	T	C3N-00560_TP	109807	104491071	40647565	617	18556	395	2									
LRP12	0	.	GRCh38	chr8	104491073	104491073	+	Missense_Mutation	SNP	G	G	T																															tcatacgactgagtgcacttGtaagctggtgacgtgctgga																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2180C>A	p.Thr727Lys	p.T727K	ENST00000276654	7/7	236	120	116	210	210	0	strelka-varscan-mutect	LRP12,missense_variant,p.Thr727Lys,ENST00000276654,NM_013437.4;LRP12,missense_variant,p.Thr708Lys,ENST00000424843,NM_001135703.2;LRP12,downstream_gene_variant,,ENST00000523007,;LRP12,non_coding_transcript_exon_variant,,ENST00000518375,;LRP12,downstream_gene_variant,,ENST00000522046,;	T	ENST00000276654	Transcript	missense_variant	2289/4112	2180/2580	727/859	T/K	aCa/aAa		1		-1	LRP12	HGNC	HGNC:31708	protein_coding	YES	CCDS6303.1	ENSP00000276654	Q9Y561		UPI0000047A9F	NM_013437.4	deleterious(0.02)		7/7		hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF216																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	104491073	104491073	G	T	1	0	0	0	0	1	0	0	0	8849	1377	48	2		2	LRP12	8	104491073	Missense_Mutation	SNP	G	C3N-00560_TP	2	104491073	40647563	618	18557	395	2									
ZFPM2	0	.	GRCh38	chr8	105802563	105802563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctgcctagagatggaCgtgcccatagatctcagcaa	10	10	10	11	1	1	2	1	0	1	2	3	4	2	3	3	1	3	2	3	1	3	3			C3N-00560_TP	C3N-00560_NB	C	C																c.2481C>A	p.Asp827Glu	p.D827E	ENST00000407775	8/8	535	407	128	376	376	0	strelka-varscan-mutect	ZFPM2,missense_variant,p.Asp827Glu,ENST00000407775,NM_012082.3;ZFPM2,missense_variant,p.Asp695Glu,ENST00000520492,;ZFPM2,missense_variant,p.Asp695Glu,ENST00000517361,;ZFPM2-AS1,intron_variant,,ENST00000524045,;ZFPM2-AS1,intron_variant,,ENST00000520433,;ZFPM2-AS1,intron_variant,,ENST00000518932,;ZFPM2-AS1,intron_variant,,ENST00000520594,;ZFPM2-AS1,intron_variant,,ENST00000509144,;ZFPM2-AS1,intron_variant,,ENST00000521622,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;ZFPM2-AS1,intron_variant,,ENST00000520078,;	A	ENST00000407775	Transcript	missense_variant	2731/4700	2481/3456	827/1151	D/E	gaC/gaA	COSM5065737	1		1	ZFPM2	HGNC	HGNC:16700	protein_coding	YES	CCDS47908.1	ENSP00000384179	Q8WW38		UPI000057A0B4	NM_012082.3	tolerated(0.09)		8/8		hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5											1						MODERATE	1	SNV	1		1	1										PASS		rs1286201473	.												A	3	1	57	105802563	105802563	C	A	1	0	0	0	0	1	0	0	0	18236	535	19	1		1	ZFPM2	8	105802563	Missense_Mutation	SNP	C	C3N-00560_TP	1311490	105802563	39336073	619	18558											
ABRA	0	.	GRCh38	chr8	106761050	106761050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggttcacttgagtagcGtaatcacaacatggtcatct	12	12	9	8	1	4	2	3	2	1	0	4	2	4	2	0	2	2	3	0	2	4	4	rs200631708		C3N-00560_TP	C3N-00560_NB	G	G																c.1133C>T	p.Thr378Met	p.T378M	ENST00000311955	2/2	142	109	33	94	94	0	strelka-varscan-mutect	ABRA,missense_variant,p.Thr378Met,ENST00000311955,NM_139166.4;	A	ENST00000311955	Transcript	missense_variant	1188/2755	1133/1146	378/381	T/M	aCg/aTg	rs200631708,COSM3271409	1		-1	ABRA	HGNC	HGNC:30655	protein_coding	YES	CCDS6305.1	ENSP00000311436	Q8N0Z2		UPI000006F0DE	NM_139166.4	deleterious(0)		2/2		hmmpanther:PTHR22739,hmmpanther:PTHR22739:SF7,Pfam_domain:PF14705,SMART_domains:SM01283											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs200631708	.												A	3	1	57	106761050	106761050	G	A	1	0	0	0	0	1	0	0	0	109	1145	40	1		1	ABRA	8	106761050	Missense_Mutation	SNP	G	C3N-00560_TP	958487	106761050	38377586	620	18559											
TRHR	0	.	GRCh38	chr8	109087744	109087744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcatggtcttggtggccGcaggcctccccaacataaca	9	9	9	14	1	2	0	1	0	2	0	4	0	3	0	4	4	2	1	4	4	2	2	rs754288192		C3N-00560_TP	C3N-00560_NB	G	G																c.232G>T	p.Ala78Ser	p.A78S	ENST00000518632	2/3	359	309	50	265	264	1	strelka-varscan-mutect	TRHR,missense_variant,p.Ala78Ser,ENST00000518632,;TRHR,missense_variant,p.Ala78Ser,ENST00000311762,NM_003301.5;	T	ENST00000518632	Transcript	missense_variant	583/1660	232/1197	78/398	A/S	Gca/Tca	rs754288192,COSM3271597	1		1	TRHR	HGNC	HGNC:12299	protein_coding	YES	CCDS6311.1	ENSP00000430711	P34981		UPI0000050437		tolerated(0.05)		2/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF115,Low_complexity_(Seg):seg,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs754288192	.												T	3	4	57	109087744	109087744	G	T	1	0	0	0	0	1	0	0	0	16969	1087	38	1		1	TRHR	8	109087744	Missense_Mutation	SNP	G	C3N-00560_TP	2326694	109087744	36050892	621	18560											
PKHD1L1	0	.	GRCh38	chr8	109445284	109445284	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgctcttgtgactcctctCccagttggacatcattctgt	6	15	7	13	0	4	1	1	1	3	0	6	2	5	2	2	1	1	2	2	1	0	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.5415C>A	p.=	p.L1805L	ENST00000378402	38/78	360	326	34	299	299	0	strelka-varscan-mutect	PKHD1L1,synonymous_variant,p.=,ENST00000378402,NM_177531.4;	A	ENST00000378402	Transcript	synonymous_variant	5519/13076	5415/12732	1805/4243	L	ctC/ctA		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4			38/78		Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296																	LOW	1	SNV	1			1										PASS		rs1301194481	.												A	2	1	57	109445284	109445284	C	A	1	0	0	0	0	0	0	0	1	12068	842	30	2		2	PKHD1L1	8	109445284	Silent	SNP	C	C3N-00560_TP	357540	109445284	35693352	622	18561											
KCNV1	0	.	GRCh38	chr8	109974030	109974030	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctccatgacatgcaggcggCcggtgcggtagtagtgcagg	7	7	17	10	3	0	1	0	1	0	0	1	1	1	1	2	5	3	5	2	5	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.359G>T	p.Gly120Val	p.G120V	ENST00000524391	2/4	414	359	55	326	326	0	strelka-varscan-mutect	KCNV1,missense_variant,p.Gly120Val,ENST00000524391,;KCNV1,missense_variant,p.Gly120Val,ENST00000297404,NM_014379.2;RP11-696P8.2,splice_region_variant,,ENST00000530667,;	A	ENST00000524391	Transcript	missense_variant	1392/6979	359/1503	120/500	G/V	gGc/gTc		1		-1	KCNV1	HGNC	HGNC:18861	protein_coding	YES	CCDS6314.1	ENSP00000435954	Q6PIU1		UPI0000073DA5		deleterious(0)		2/4		Gene3D:3.30.710.10,Pfam_domain:PF02214,Prints_domain:PR01493,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF38,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	109974030	109974030	C	A	1	0	0	0	0	1	0	0	0	8010	739	26	2		2	KCNV1	8	109974030	Missense_Mutation	SNP	C	C3N-00560_TP	528746	109974030	35164606	623	18562											
CSMD3	0	.	GRCh38	chr8	112682541	112682541	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaataaatccttcttcacAaataactgaaattgaacttc	16	15	2	8	0	2	2	1	2	1	0	4	2	3	2	1	0	2	0	1	0	7	8	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.2578T>A	p.Cys860Ser	p.C860S	ENST00000297405	16/71	166	102	64	157	157	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Cys860Ser,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Cys820Ser,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Cys756Ser,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Cys200Ser,ENST00000339701,;	T	ENST00000297405	Transcript	missense_variant	2823/13212	2578/11124	860/3707	C/S	Tgt/Agt		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0.02)		16/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	112682541	112682541	A	T	1	0	0	0	0	1	0	0	0	3747	130	5	4		4	CSMD3	8	112682541	Missense_Mutation	SNP	A	C3N-00560_TP	2708511	112682541	32456095	624	18563											
CSMD3	0	.	GRCh38	chr8	113314727	113314727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccatttggatatccatatGgaaaaccagggctttctata	13	12	7	9	0	1	0	0	0	1	0	2	2	2	2	3	3	1	1	3	3	6	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.245C>A	p.Pro82Gln	p.P82Q	ENST00000297405	2/71	217	191	26	277	276	1	strelka-varscan-mutect	CSMD3,missense_variant,p.Pro82Gln,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Pro42Gln,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Pro82Gln,ENST00000455883,NM_052900.2;CSMD3,non_coding_transcript_exon_variant,,ENST00000493303,;CSMD3,non_coding_transcript_exon_variant,,ENST00000497026,;	T	ENST00000297405	Transcript	missense_variant	490/13212	245/11124	82/3707	P/Q	cCa/cAa		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		2/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	113314727	113314727	G	T	1	0	0	0	0	1	0	0	0	3747	1348	47	2		2	CSMD3	8	113314727	Missense_Mutation	SNP	G	C3N-00560_TP	632186	113314727	31823909	625	18564											
EXT1	0	.	GRCh38	chr8	117807332	117807332	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcgcggggtaccccaCaatcctctcagggaagctct	7	7	12	15	3	2	0	1	0	2	0	4	1	3	1	3	3	3	3	3	3	3	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1768G>T	p.Val590Leu	p.V590L	ENST00000378204	9/11	501	235	266	398	397	1	strelka-varscan-mutect	EXT1,missense_variant,p.Val590Leu,ENST00000378204,NM_000127.2;EXT1,3_prime_UTR_variant,,ENST00000437196,;	A	ENST00000378204	Transcript	missense_variant	2575/8270	1768/2241	590/746	V/L	Gtg/Ttg		1		-1	EXT1	HGNC	HGNC:3512	protein_coding	YES	CCDS6324.1	ENSP00000367446	Q16394		UPI000012A3A1	NM_000127.2	deleterious(0)		9/11		Gene3D:3.90.550.10,Pfam_domain:PF09258,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	117807332	117807332	C	A	1	0	0	0	0	1	0	0	0	5191	478	17	2		2	EXT1	8	117807332	Missense_Mutation	SNP	C	C3N-00560_TP	4492605	117807332	27331304	626	18565											
EXT1	0	.	GRCh38	chr8	117807355	117807355	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcagggaagctctgcCacactgtgaaggcgaaatcc	10	8	10	13	1	2	1	1	1	2	0	5	3	4	2	3	2	2	1	3	2	3	0			C3N-00560_TP	C3N-00560_NB	C	C																c.1745G>T	p.Trp582Leu	p.W582L	ENST00000378204	9/11	518	447	71	416	416	0	strelka-varscan-mutect	EXT1,missense_variant,p.Trp582Leu,ENST00000378204,NM_000127.2;EXT1,3_prime_UTR_variant,,ENST00000437196,;	A	ENST00000378204	Transcript	missense_variant	2552/8270	1745/2241	582/746	W/L	tGg/tTg	CM012094	1		-1	EXT1	HGNC	HGNC:3512	protein_coding	YES	CCDS6324.1	ENSP00000367446	Q16394		UPI000012A3A1	NM_000127.2	deleterious(0)		9/11		Gene3D:3.90.550.10,Pfam_domain:PF09258,hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF97,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	57	117807355	117807355	C	A	1	0	0	0	0	1	0	0	0	5191	595	21	2		2	EXT1	8	117807355	Missense_Mutation	SNP	C	C3N-00560_TP	23	117807355	27331281	627	18566											
FER1L6	0	.	GRCh38	chr8	123970098	123970098	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaagatcatcaaaatctccGtaagtatagcattggtggta	15	11	8	7	1	3	1	2	0	1	1	4	1	3	1	1	2	1	4	1	2	7	5	rs755495488		C3N-00560_TP	C3N-00560_NB	G	G																c.447+1G>A		p.X149_splice	ENST00000522917		211	148	63	215	215	0	strelka-varscan-mutect	FER1L6,splice_donor_variant,,ENST00000522917,NM_001039112.2;	A	ENST00000522917	Transcript	splice_donor_variant	-/6051	447/5574	149/1857			rs755495488,COSM4168173	1		1	FER1L6	HGNC	HGNC:28065	protein_coding	YES	CCDS43767.1	ENSP00000428280	Q2WGJ9		UPI0000E9B4AA	NM_001039112.2				6/40												0,1						HIGH	1	SNV	1		0,1	1										PASS		rs1254088849	.												A	5	1	57	123970098	123970098	G	A	1	0	0	0	0	0	0	1	0	5678	1159	40	1		1	FER1L6	8	123970098	Splice_Site	SNP	G	C3N-00560_TP	6162743	123970098	21168538	628	18567											
FER1L6	0	.	GRCh38	chr8	124094961	124094961	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcttgggaggatatcccgGaagtcgggtgtaggctggtt	7	11	16	7	2	1	0	0	0	1	0	3	3	2	3	1	6	0	3	1	6	3	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4618G>T	p.Glu1540Ter	p.E1540*	ENST00000522917	35/41	498	441	57	387	386	1	strelka-varscan-mutect	FER1L6,stop_gained,p.Glu1540Ter,ENST00000522917,NM_001039112.2;FER1L6-AS2,intron_variant,,ENST00000520031,;	T	ENST00000522917	Transcript	stop_gained	4824/6051	4618/5574	1540/1857	E/*	Gaa/Taa		1		1	FER1L6	HGNC	HGNC:28065	protein_coding	YES	CCDS43767.1	ENSP00000428280	Q2WGJ9		UPI0000E9B4AA	NM_001039112.2			35/41		hmmpanther:PTHR12546:SF37,hmmpanther:PTHR12546																	HIGH	1	SNV	1			1										PASS		rs1402824205	.												T	4	4	57	124094961	124094961	G	T	1	0	0	0	0	0	1	0	0	5678	1175	41	2		2	FER1L6	8	124094961	Nonsense_Mutation	SNP	G	C3N-00560_TP	124863	124094961	21043675	629	18568											
FAM49B	0	.	GRCh38	chr8	129849242	129849242	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatataaaacaataacttaCatcaattttggaagttttag	17	16	4	4	0	1	0	1	0	0	0	1	1	1	1	0	1	3	1	0	1	10	9	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.840+1G>T		p.X280_splice	ENST00000519824		109	82	27	82	82	0	strelka-varscan-mutect	FAM49B,splice_donor_variant,,ENST00000519824,NM_016623.4;FAM49B,splice_donor_variant,,ENST00000522746,;FAM49B,splice_donor_variant,,ENST00000401979,;FAM49B,splice_donor_variant,,ENST00000519540,NM_001256763.1;FAM49B,splice_donor_variant,,ENST00000523509,;FAM49B,splice_donor_variant,,ENST00000519110,;FAM49B,splice_donor_variant,,ENST00000517654,;FAM49B,splice_donor_variant,,ENST00000522941,;FAM49B,splice_donor_variant,,ENST00000522250,;FAM49B,splice_donor_variant,,ENST00000615041,;RP11-473O4.5,downstream_gene_variant,,ENST00000524100,;FAM49B,splice_donor_variant,,ENST00000523288,;FAM49B,downstream_gene_variant,,ENST00000517801,;FAM49B,upstream_gene_variant,,ENST00000520887,;	A	ENST00000519824	Transcript	splice_donor_variant	-/3798	840/975	280/324				1		-1	FAM49B	HGNC	HGNC:25216	protein_coding	YES	CCDS6361.1	ENSP00000429150	Q9NUQ9	A0A024R9G4	UPI0000073D89	NM_016623.4				10/11																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	57	129849242	129849242	C	A	1	0	0	0	0	0	0	1	0	5452	492	17	2		2	FAM49B	8	129849242	Splice_Site	SNP	C	C3N-00560_TP	5754281	129849242	15289394	630	18569											
ASAP1	0	.	GRCh38	chr8	130054793	130054793	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctttcaggctgtccttCgatgtggccaatctgcaggg	5	13	11	12	1	2	0	1	0	1	0	5	1	4	0	3	3	1	2	3	3	1	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3328G>T	p.Glu1110Ter	p.E1110*	ENST00000518721	30/30	279	222	57	194	194	0	strelka-varscan-mutect	ASAP1,stop_gained,p.Glu1103Ter,ENST00000357668,NM_001247996.1;ASAP1,stop_gained,p.Glu1110Ter,ENST00000518721,NM_018482.3;ASAP1,stop_gained,p.Glu931Ter,ENST00000524124,;ASAP1,stop_gained,p.Glu467Ter,ENST00000519483,;ASAP1,3_prime_UTR_variant,,ENST00000521075,;	A	ENST00000518721	Transcript	stop_gained	3556/5507	3328/3390	1110/1129	E/*	Gaa/Taa		1		-1	ASAP1	HGNC	HGNC:2720	protein_coding	YES	CCDS6362.1	ENSP00000429900	Q9ULH1		UPI0000351D6E	NM_018482.3			30/30		PROSITE_profiles:PS50002,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF192,Pfam_domain:PF00018,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	57	130054793	130054793	C	A	1	0	0	0	0	0	1	0	0	1152	893	31	1		1	ASAP1	8	130054793	Nonsense_Mutation	SNP	C	C3N-00560_TP	205551	130054793	15083843	631	18570											
LRRC6	0	.	GRCh38	chr8	132611293	132611293	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcctacagggttctacttaCctttcctttgatcattactc	8	16	5	12	0	2	1	1	1	1	0	4	1	3	1	3	1	5	1	3	1	4	7	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1044+1G>T		p.X348_splice	ENST00000620350		144	74	70	109	109	0	strelka-varscan-mutect	LRRC6,splice_donor_variant,,ENST00000620350,NM_012472.4;LRRC6,splice_donor_variant,,ENST00000618342,;LRRC6,splice_donor_variant,,ENST00000519595,;LRRC6,splice_donor_variant,,ENST00000518642,;LRRC6,splice_donor_variant,,ENST00000250173,;LRRC6,splice_donor_variant,,ENST00000522789,;LRRC6,splice_donor_variant,,ENST00000519085,;LRRC6,splice_donor_variant,,ENST00000522597,;	A	ENST00000620350	Transcript	splice_donor_variant	-/1878	1044/1401	348/466				1		-1	LRRC6	HGNC	HGNC:16725	protein_coding	YES	CCDS6365.1	ENSP00000484634	Q86X45		UPI000000DBC5	NM_012472.4				9/11																		HIGH	1	SNV	1			1										PASS		rs1234742897	.												A	5	1	57	132611293	132611293	C	A	1	0	0	0	0	0	0	1	0	8911	521	18	2		2	LRRC6	8	132611293	Splice_Site	SNP	C	C3N-00560_TP	2556500	132611293	12527343	632	18571											
FAM135B	0	.	GRCh38	chr8	138139064	138139064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagctgcagtagagaccCggatttcttcagtttctgca	8	12	11	10	1	4	1	2	0	2	1	4	3	4	2	1	2	3	5	1	2	1	4	rs374711628		C3N-00560_TP	C3N-00560_NB	C	C																c.3823G>T	p.Gly1275Trp	p.G1275W	ENST00000395297	18/20	151	89	62	147	147	0	strelka-varscan-mutect	FAM135B,missense_variant,p.Gly1275Trp,ENST00000395297,NM_015912.3;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,3_prime_UTR_variant,,ENST00000276737,;FAM135B,downstream_gene_variant,,ENST00000467365,;FAM135B,downstream_gene_variant,,ENST00000395295,;	A	ENST00000395297	Transcript	missense_variant	3994/6962	3823/4221	1275/1406	G/W	Ggg/Tgg	rs374711628	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	deleterious(0)		18/20		Low_complexity_(Seg):seg,hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482,Gene3D:3.40.50.1820,Pfam_domain:PF05057,Superfamily_domains:SSF53474																	MODERATE	1	SNV	5			1										PASS		rs374711628	.												A	3	1	57	138139064	138139064	C	A	1	0	0	0	0	1	0	0	0	5299	652	23	1		1	FAM135B	8	138139064	Missense_Mutation	SNP	C	C3N-00560_TP	5527771	138139064	6999572	633	18572											
FAM135B	0	.	GRCh38	chr8	138153119	138153119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttccctaaaagataaattGctatttaccatacagttatc	14	15	3	9	0	1	1	0	0	1	1	3	1	2	1	2	0	3	2	2	0	8	9			C3N-00560_TP	C3N-00560_NB	G	G																c.1356C>A	p.Ser452Arg	p.S452R	ENST00000395297	13/20	151	129	22	122	122	0	strelka-varscan-mutect	FAM135B,missense_variant,p.Ser452Arg,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Ser452Arg,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000467365,;FAM135B,upstream_gene_variant,,ENST00000395295,;	T	ENST00000395297	Transcript	missense_variant	1527/6962	1356/4221	452/1406	S/R	agC/agA	COSM5358753,COSM5358754	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	tolerated(0.88)		13/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	57	138153119	138153119	G	T	1	0	0	0	0	1	0	0	0	5299	1310	46	2		2	FAM135B	8	138153119	Missense_Mutation	SNP	G	C3N-00560_TP	14055	138153119	6985517	634	18573											
COL22A1	0	.	GRCh38	chr8	138594126	138594126	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttttccagggggcccTgggggcccaggtctgccttg	3	10	14	14	0	2	0	0	0	2	0	3	0	3	0	5	5	1	0	5	5	0	3	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.4506A>C	p.=	p.P1502P	ENST00000303045	63/65	147	127	20	140	140	0	strelka-varscan-mutect	COL22A1,synonymous_variant,p.=,ENST00000303045,NM_152888.2;COL22A1,synonymous_variant,p.=,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;	G	ENST00000303045	Transcript	synonymous_variant	4953/6346	4506/4881	1502/1626	P	ccA/ccC		1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2			63/65		Low_complexity_(Seg):seg,Pfam_domain:PF01391																	LOW	1	SNV	1			1										PASS		rs1374502999	.												G	2	3	57	138594126	138594126	T	G	1	0	0	0	0	0	0	0	1	3469	1567	55	5		5	COL22A1	8	138594126	Silent	SNP	T	C3N-00560_TP	441007	138594126	6544510	635	18574											
COL22A1	0	.	GRCh38	chr8	138594199	138594199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggaggtaggcgagtctgGctgtaaagtagaaaaagaga	15	6	15	5	1	1	2	0	0	1	2	1	5	1	3	1	4	0	4	1	4	6	3	rs759271482		C3N-00560_TP	C3N-00560_NB	G	G																c.4433C>A	p.Thr1478Asn	p.T1478N	ENST00000303045	63/65	171	150	21	167	167	0	strelka-varscan-mutect	COL22A1,missense_variant,p.Thr1478Asn,ENST00000303045,NM_152888.2;COL22A1,missense_variant,p.Thr1171Asn,ENST00000435777,;COL22A1,splice_region_variant,,ENST00000341807,;	T	ENST00000303045	Transcript	missense_variant,splice_region_variant	4880/6346	4433/4881	1478/1626	T/N	aCc/aAc	rs759271482	1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2	tolerated(0.45)		63/65																			MODERATE	1	SNV	1			1										PASS		rs759271482	.												T	3	4	57	138594199	138594199	G	T	1	0	0	0	0	1	0	0	0	3469	1217	42	2		2	COL22A1	8	138594199	Missense_Mutation	SNP	G	C3N-00560_TP	73	138594199	6544437	636	18575											
JRK	0	.	GRCh38	chr8	142664484	142664484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccgcctcctcacctgctgCtggctccggaacacggcacg	5	6	11	19	5	1	0	1	0	0	0	3	1	3	1	5	3	3	4	5	3	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1575G>T	p.Gln525His	p.Q525H	ENST00000612905	2/2	214	101	113	163	162	1	strelka-varscan-mutect	JRK,missense_variant,p.Gln525His,ENST00000612905,NM_003724.3;JRK,missense_variant,p.Gln525His,ENST00000614134,;JRK,missense_variant,p.Gln525His,ENST00000615982,NM_001279352.1;JRK,missense_variant,p.Gln525His,ENST00000571961,NM_001077527.2;JRK,downstream_gene_variant,,ENST00000503272,;JRK,downstream_gene_variant,,ENST00000591357,;JRK,upstream_gene_variant,,ENST00000506774,;	A	ENST00000612905	Transcript	missense_variant	2100/9124	1575/1707	525/568	Q/H	caG/caT		1		-1	JRK	HGNC	HGNC:6199	protein_coding	YES	CCDS75796.1	ENSP00000482410		Q86XJ5	UPI000000DA37	NM_003724.3	tolerated(0.05)		2/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	142664484	142664484	C	A	1	0	0	0	0	1	0	0	0	7876	796	28	2		2	JRK	8	142664484	Missense_Mutation	SNP	C	C3N-00560_TP	4070285	142664484	2474152	637	18576											
CYP11B2	0	.	GRCh38	chr8	142917740	142917740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttcaaacggcagcaccGtcctaggggcccgagcggct	7	6	14	14	4	1	0	1	0	0	0	2	1	2	0	3	5	3	4	3	5	2	2	rs753988592		C3N-00560_TP	C3N-00560_NB	G	G																c.101C>A	p.Thr34Lys	p.T34K	ENST00000323110	1/9	616	425	191	426	425	1	strelka-varscan-mutect	CYP11B2,missense_variant,p.Thr34Lys,ENST00000323110,NM_000498.3;GML,downstream_gene_variant,,ENST00000522728,;	T	ENST00000323110	Transcript	missense_variant	104/2936	101/1512	34/503	T/K	aCg/aAg	rs753988592,COSM4762248	1		-1	CYP11B2	HGNC	HGNC:2592	protein_coding	YES	CCDS6393.1	ENSP00000325822	P19099		UPI00001282CF	NM_000498.3	tolerated(0.34)		1/9		hmmpanther:PTHR24279,hmmpanther:PTHR24279:SF46											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs753988592	.												T	3	4	57	142917740	142917740	G	T	1	0	0	0	0	1	0	0	0	3949	1145	40	1		1	CYP11B2	8	142917740	Missense_Mutation	SNP	G	C3N-00560_TP	253256	142917740	2220896	638	18577											
LY6E	0	.	GRCh38	chr8	143021771	143021771	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcctgctgccggccctGctgcggtttggcccctgacc	2	9	13	17	2	0	2	0	2	0	0	0	2	0	2	6	3	5	3	6	3	0	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.378G>T	p.=	p.L126L	ENST00000520466	5/5	154	123	31	81	81	0	strelka-varscan-mutect	LY6E,synonymous_variant,p.=,ENST00000520466,;LY6E,synonymous_variant,p.=,ENST00000521699,;LY6E,synonymous_variant,p.=,ENST00000292494,NM_002346.2;LY6E,synonymous_variant,p.=,ENST00000429120,NM_001127213.1;LY6E,synonymous_variant,p.=,ENST00000522024,;LY6E,synonymous_variant,p.=,ENST00000522971,;LY6E,synonymous_variant,p.=,ENST00000521003,;LY6E,3_prime_UTR_variant,,ENST00000517503,;LY6E,3_prime_UTR_variant,,ENST00000521182,;LY6E,3_prime_UTR_variant,,ENST00000519546,;LY6E,3_prime_UTR_variant,,ENST00000519611,;LY6E,3_prime_UTR_variant,,ENST00000522528,;LY6E,intron_variant,,ENST00000523847,;LY6E,downstream_gene_variant,,ENST00000520531,;RP11-273G15.2,upstream_gene_variant,,ENST00000502167,;RP11-273G15.2,upstream_gene_variant,,ENST00000517833,;RP11-273G15.2,upstream_gene_variant,,ENST00000522060,;RP11-273G15.2,upstream_gene_variant,,ENST00000518831,;LY6E,upstream_gene_variant,,ENST00000519615,;	T	ENST00000520466	Transcript	synonymous_variant	781/1419	378/396	126/131	L	ctG/ctT		1		1	LY6E	HGNC	HGNC:6727	protein_coding	YES	CCDS6394.1	ENSP00000428572	Q16553		UPI00000374A7				5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR16983:SF13,hmmpanther:PTHR16983																	LOW		SNV	2			1										PASS		.	.												T	2	4	57	143021771	143021771	G	T	1	0	0	0	0	0	0	0	1	9001	1306	46	2		2	LY6E	8	143021771	Silent	SNP	G	C3N-00560_TP	104031	143021771	2116865	639	18578											
WDR97	0	.	GRCh38	chr8	144109522	144109522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgccggtgcgcccgggctgGccggtgctgtccctgtgcgc	0	7	18	16	6	0	0	0	0	0	0	1	0	1	0	4	4	3	2	4	4	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1188G>T	p.Trp396Cys	p.W396C	ENST00000323662	5/24	322	224	98	186	186	0	strelka-varscan-mutect	WDR97,missense_variant,p.Trp396Cys,ENST00000323662,;MAF1,downstream_gene_variant,,ENST00000534585,;MAF1,downstream_gene_variant,,ENST00000322428,NM_032272.4;MAF1,downstream_gene_variant,,ENST00000532522,;MAF1,downstream_gene_variant,,ENST00000527058,;MAF1,downstream_gene_variant,,ENST00000527572,;MAF1,downstream_gene_variant,,ENST00000534811,;WDR97,upstream_gene_variant,,ENST00000533108,;SHARPIN,upstream_gene_variant,,ENST00000533184,;WDR97,missense_variant,p.Trp396Cys,ENST00000534167,;WDR97,upstream_gene_variant,,ENST00000528691,;WDR97,upstream_gene_variant,,ENST00000525150,;WDR97,upstream_gene_variant,,ENST00000529209,;	T	ENST00000323662	Transcript	missense_variant	1213/6916	1188/4869	396/1622	W/C	tgG/tgT		1		1	WDR97	HGNC	HGNC:26959	protein_coding	YES		ENSP00000320648	A6NE52		UPI000173AA02		deleterious(0.04)		5/24		Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF497,Superfamily_domains:SSF50978																	MODERATE		SNV	5			1										PASS		rs897281478	.												T	3	4	57	144109522	144109522	G	T	1	0	0	0	0	1	0	0	0	17897	1212	42	2		2	WDR97	8	144109522	Missense_Mutation	SNP	G	C3N-00560_TP	1087751	144109522	1029114	640	18579											
LRRC24	0	.	GRCh38	chr8	144523123	144523123	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggccggccctcgcgaggCtggggcacctttctccaggt	3	7	15	16	5	1	0	0	0	1	0	3	1	1	0	4	6	0	2	4	6	0	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.894G>C	p.Gln298His	p.Q298H	ENST00000529415	5/5	453	416	37	331	331	0	strelka-varscan-mutect	LRRC24,missense_variant,p.Gln298His,ENST00000529415,NM_001024678.3;LRRC24,missense_variant,p.Gln295His,ENST00000533758,;LRRC14,3_prime_UTR_variant,,ENST00000292524,NM_014665.3;C8orf82,downstream_gene_variant,,ENST00000524821,NM_001001795.1;LRRC14,downstream_gene_variant,,ENST00000529022,NM_001272036.1;C8orf82,downstream_gene_variant,,ENST00000313465,;LRRC14,downstream_gene_variant,,ENST00000527730,;C8orf82,downstream_gene_variant,,ENST00000532827,;LRRC14,downstream_gene_variant,,ENST00000530854,;LRRC14,downstream_gene_variant,,ENST00000525766,;LRRC14,non_coding_transcript_exon_variant,,ENST00000528528,;LRRC14,upstream_gene_variant,,ENST00000529995,;LRRC14,upstream_gene_variant,,ENST00000530242,;C8orf82,downstream_gene_variant,,ENST00000534680,;LRRC14,downstream_gene_variant,,ENST00000531310,;	G	ENST00000529415	Transcript	missense_variant	1012/1758	894/1542	298/513	Q/H	caG/caC		1		-1	LRRC24	HGNC	HGNC:28947	protein_coding	YES	CCDS34969.1	ENSP00000434849	Q50LG9		UPI0000419443	NM_001024678.3	tolerated(0.49)		5/5		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF255,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	144523123	144523123	C	G	1	0	0	0	0	1	0	0	0	8874	796	28	4		4	LRRC24	8	144523123	Missense_Mutation	SNP	C	C3N-00560_TP	413601	144523123	615513	641	18580											
INSL4	0	.	GRCh38	chr9	5233726	5233726	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattcattcctaatttgtCaccagagctgaagaaaccac	15	10	6	10	0	2	4	2	1	0	3	3	4	3	4	3	0	2	1	3	0	4	4			C3N-00560_TP	C3N-00560_NB	C	C																c.269C>A	p.Ser90Ter	p.S90*	ENST00000239316	2/2	240	149	91	307	305	2	strelka-varscan-mutect	INSL4,stop_gained,p.Ser90Ter,ENST00000239316,NM_002195.1;	A	ENST00000239316	Transcript	stop_gained	374/1952	269/420	90/139	S/*	tCa/tAa	COSM1725209	1		1	INSL4	HGNC	HGNC:6087	protein_coding	YES	CCDS6459.1	ENSP00000239316	Q14641		UPI0000032F5A	NM_002195.1			2/2		Prints_domain:PR02004,hmmpanther:PTHR12004,hmmpanther:PTHR12004:SF3											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	57	5233726	5233726	C	A	1	0	0	0	0	0	1	0	0	7670	838	29	2		2	INSL4	9	5233726	Nonsense_Mutation	SNP	C	C3N-00560_TP		5233726	133160991	642	18581											
KIAA2026	0	.	GRCh38	chr9	5929139	5929139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtaattcttttacagcttgCctccgatgataccattttcc	8	17	5	11	1	1	1	0	1	1	0	3	2	3	1	4	0	4	2	4	0	3	8	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2403G>C	p.Arg801Ser	p.R801S	ENST00000399933	6/8	72	45	27	148	148	0	strelka-varscan-mutect	KIAA2026,missense_variant,p.Arg801Ser,ENST00000399933,NM_001017969.2;KIAA2026,missense_variant,p.Arg771Ser,ENST00000381461,;KIAA2026,missense_variant,p.Gly129Ala,ENST00000540714,;	G	ENST00000399933	Transcript	missense_variant	2403/6988	2403/6312	801/2103	R/S	agG/agC		1		-1	KIAA2026	HGNC	HGNC:23378	protein_coding	YES		ENSP00000382815	Q5HYC2		UPI0001533DB0	NM_001017969.2	deleterious(0)		6/8		hmmpanther:PTHR31095,hmmpanther:PTHR31095:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	57	5929139	5929139	C	G	1	0	0	0	0	1	0	0	0	8134	738	26	4		4	KIAA2026	9	5929139	Missense_Mutation	SNP	C	C3N-00560_TP	695413	5929139	132465578	643	18582											
UHRF2	0	.	GRCh38	chr9	6433995	6433995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagtgttactagagcttctGatggacagtcacgtggcaaa	12	11	11	7	1	2	2	1	1	1	1	2	3	2	3	0	2	2	3	0	2	4	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.466G>A	p.Asp156Asn	p.D156N	ENST00000276893	3/16	160	79	81	187	187	0	strelka-varscan-mutect	UHRF2,missense_variant,p.Asp156Asn,ENST00000276893,NM_152896.2;UHRF2,intron_variant,,ENST00000450508,;RP11-307L3.4,intron_variant,,ENST00000411561,;UHRF2,non_coding_transcript_exon_variant,,ENST00000469298,;UHRF2,non_coding_transcript_exon_variant,,ENST00000481049,;UHRF2,non_coding_transcript_exon_variant,,ENST00000461236,;UHRF2,missense_variant,p.Asp156Asn,ENST00000468435,;UHRF2,upstream_gene_variant,,ENST00000484159,;	A	ENST00000276893	Transcript	missense_variant	634/3452	466/2409	156/802	D/N	Gat/Aat		1		1	UHRF2	HGNC	HGNC:12557	protein_coding	YES	CCDS6469.1	ENSP00000276893	Q96PU4		UPI000006E524	NM_152896.2	tolerated(0.34)		3/16		hmmpanther:PTHR14140:SF3,hmmpanther:PTHR14140,Pfam_domain:PF12148																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	6433995	6433995	G	A	1	0	0	0	0	1	0	0	0	17494	1290	45	3		3	UHRF2	9	6433995	Missense_Mutation	SNP	G	C3N-00560_TP	504856	6433995	131960722	644	18583											
GLDC	0	.	GRCh38	chr9	6610261	6610261	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgcattggccatgtccAggcctgtgatgtcacacacc	8	9	12	12	0	1	1	1	1	0	0	2	2	2	2	4	3	1	1	4	3	0	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.566T>G	p.Leu189Arg	p.L189R	ENST00000321612	4/25	256	159	97	282	282	0	strelka-varscan-mutect	GLDC,missense_variant,p.Leu189Arg,ENST00000321612,NM_000170.2;GLDC,upstream_gene_variant,,ENST00000463305,;	C	ENST00000321612	Transcript	missense_variant	717/3767	566/3063	189/1020	L/R	cTg/cGg		1		-1	GLDC	HGNC	HGNC:4313	protein_coding	YES	CCDS34987.1	ENSP00000370737	P23378		UPI0000684276	NM_000170.2	deleterious(0)		4/25		HAMAP:MF_00711,hmmpanther:PTHR11773,hmmpanther:PTHR11773:SF1,Gene3D:3.40.640.10,Pfam_domain:PF02347,TIGRFAM_domain:TIGR00461,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	6610261	6610261	A	C	1	0	0	0	0	1	0	0	0	6311	188	7	5		5	GLDC	9	6610261	Missense_Mutation	SNP	A	C3N-00560_TP	176266	6610261	131784456	645	18584											
BNC2	0	.	GRCh38	chr9	16727843	16727843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtatcagcgttttgccatGtccccatgaaccctggttca	8	13	8	12	1	2	1	2	1	0	0	3	1	3	1	4	1	3	3	4	1	3	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.284C>A	p.Thr95Lys	p.T95K	ENST00000380672	3/7	256	142	114	326	326	0	strelka-varscan-mutect	BNC2,missense_variant,p.Thr95Lys,ENST00000380672,NM_001317940.1,NM_017637.5;BNC2,missense_variant,p.Thr52Lys,ENST00000418777,;BNC2,missense_variant,p.Thr17Lys,ENST00000380666,;BNC2,missense_variant,p.Thr17Lys,ENST00000603713,;BNC2,missense_variant,p.Thr53Lys,ENST00000486514,;BNC2,missense_variant,p.Thr17Lys,ENST00000617779,;BNC2,missense_variant,p.Thr52Lys,ENST00000468187,;BNC2,missense_variant,p.Thr17Lys,ENST00000613349,;BNC2,missense_variant,p.Thr17Lys,ENST00000603313,;BNC2,5_prime_UTR_variant,,ENST00000545497,;BNC2,intron_variant,,ENST00000380667,;RP11-62F24.2,downstream_gene_variant,,ENST00000450445,;BNC2,missense_variant,p.Thr95Lys,ENST00000484726,;	T	ENST00000380672	Transcript	missense_variant	342/12844	284/3300	95/1099	T/K	aCa/aAa		1		-1	BNC2	HGNC	HGNC:30988	protein_coding	YES	CCDS6482.2	ENSP00000370047	Q6ZN30		UPI000035E7B0	NM_001317940.1,NM_017637.5	deleterious_low_confidence(0)		3/7																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	16727843	16727843	G	T	1	0	0	0	0	1	0	0	0	1631	1377	48	2		2	BNC2	9	16727843	Missense_Mutation	SNP	G	C3N-00560_TP	10117582	16727843	121666874	646	18585											
FOCAD	0	.	GRCh38	chr9	20770216	20770216	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattcaccttttagagcAcagtgttgaacttctgaagg	11	14	8	8	0	3	3	2	2	1	1	3	3	3	3	1	1	2	2	1	1	4	6	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.884A>T	p.His295Leu	p.H295L	ENST00000380249	10/46	176	100	76	258	258	0	strelka-varscan-mutect	FOCAD,missense_variant,p.His295Leu,ENST00000380249,NM_017794.4;FOCAD,missense_variant,p.His295Leu,ENST00000338382,;FOCAD,downstream_gene_variant,,ENST00000604103,;FOCAD,downstream_gene_variant,,ENST00000605031,;	T	ENST00000380249	Transcript	missense_variant	1248/6096	884/5406	295/1801	H/L	cAc/cTc		1		1	FOCAD	HGNC	HGNC:23377	protein_coding	YES	CCDS34993.1	ENSP00000369599	Q5VW36		UPI0000EE4244	NM_017794.4	tolerated(0.13)		10/46		hmmpanther:PTHR16212,hmmpanther:PTHR16212:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	20770216	20770216	A	T	1	0	0	0	0	1	0	0	0	5839	159	6	4		4	FOCAD	9	20770216	Missense_Mutation	SNP	A	C3N-00560_TP	4042373	20770216	117624501	647	18586											
IFNA13	0	.	GRCh38	chr9	21367978	21367978	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgcagctgagcaccaccagGgccatcagtaaagcaaaggg	13	5	12	11	0	1	1	1	1	0	0	1	1	1	1	3	2	4	5	3	2	3	2			C3N-00560_TP	C3N-00560_NB	G	G																c.33C>G	p.=	p.A11A	ENST00000610660	1/1	211	116	95	272	272	0	strelka-varscan-mutect	IFNA13,synonymous_variant,p.=,ENST00000610660,NM_006900.3;IFNA13,synonymous_variant,p.=,ENST00000449498,;	C	ENST00000610660	Transcript	synonymous_variant	985/1539	33/573	11/190	A	gcC/gcG	COSM753762	1		-1	IFNA13	HGNC	HGNC:5419	protein_coding	YES	CCDS6505.2	ENSP00000480467		A0A087WWS6	UPI0000D4C125	NM_006900.3			1/1		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF30											1						LOW	1	SNV			1	1										PASS		.	.												C	2	2	57	21367978	21367978	G	C	1	0	0	0	0	0	0	0	1	7433	1219	43	4		4	IFNA13	9	21367978	Silent	SNP	G	C3N-00560_TP	597762	21367978	117026739	648	18587											
TEK	0	.	GRCh38	chr9	27212781	27212781	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcgcaagagccgtgtgctgGagacggacccagcatttgcc	8	8	13	12	3	0	2	0	0	0	2	1	4	0	3	3	2	4	3	3	2	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2761G>T	p.Glu921Ter	p.E921*	ENST00000380036	17/23	748	547	201	627	626	1	strelka-varscan-mutect	TEK,stop_gained,p.Glu921Ter,ENST00000380036,NM_000459.4;TEK,stop_gained,p.Glu878Ter,ENST00000406359,NM_001290077.1;TEK,stop_gained,p.Glu773Ter,ENST00000519097,NM_001290078.1;TEK,3_prime_UTR_variant,,ENST00000615002,;RP11-179D22.1,downstream_gene_variant,,ENST00000422804,;	T	ENST00000380036	Transcript	stop_gained	3203/4760	2761/3375	921/1124	E/*	Gag/Tag		1		1	TEK	HGNC	HGNC:11724	protein_coding	YES	CCDS6519.1	ENSP00000369375	Q02763		UPI000021121E	NM_000459.4			17/23		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF125,SMART_domains:SM00219,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	27212781	27212781	G	T	1	0	0	0	0	0	1	0	0	16163	1175	41	2		2	TEK	9	27212781	Nonsense_Mutation	SNP	G	C3N-00560_TP	5844803	27212781	111181936	649	18588											
TOPORS	0	.	GRCh38	chr9	32542667	32542667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttcattcttttcttccCatgatgctttctatgattct	6	22	3	10	0	5	2	1	2	4	0	6	2	6	2	1	0	1	1	1	0	1	9	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1858G>T	p.Gly620Trp	p.G620W	ENST00000360538	3/3	701	481	220	622	619	3	strelka-varscan-mutect	TOPORS,missense_variant,p.Gly620Trp,ENST00000360538,NM_005802.4;TOPORS,missense_variant,p.Gly555Trp,ENST00000379858,NM_001195622.1;	A	ENST00000360538	Transcript	missense_variant	1975/4098	1858/3138	620/1045	G/W	Ggg/Tgg		1		-1	TOPORS	HGNC	HGNC:21653	protein_coding	YES	CCDS6527.1	ENSP00000353735	Q9NS56		UPI000006F223	NM_005802.4	deleterious_low_confidence(0.01)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22937:SF61,hmmpanther:PTHR22937																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	32542667	32542667	C	A	1	0	0	0	0	1	0	0	0	16847	594	21	2		2	TOPORS	9	32542667	Missense_Mutation	SNP	C	C3N-00560_TP	5329886	32542667	105852050	650	18589											
TAF1L	0	.	GRCh38	chr9	32633026	32633026	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaatgggaaggaaaggCtttttttatatcttccattc	10	17	8	6	0	2	1	0	1	2	0	4	3	3	3	1	3	0	1	1	3	5	8	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2554G>C	p.Ala852Pro	p.A852P	ENST00000242310	1/1	599	435	164	543	543	0	strelka-varscan-mutect	TAF1L,missense_variant,p.Ala852Pro,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;	G	ENST00000242310	Transcript	missense_variant	2644/6216	2554/5481	852/1826	A/P	Gcc/Ccc		1		-1	TAF1L	HGNC	HGNC:18056	protein_coding	YES	CCDS35003.1	ENSP00000418379	Q8IZX4		UPI000007408A	NM_153809.2	deleterious(0)		1/1		Pfam_domain:PF12157,PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0																	MODERATE		SNV				1										PASS		.	.												G	3	3	57	32633026	32633026	C	G	1	0	0	0	0	1	0	0	0	15919	797	28	4		4	TAF1L	9	32633026	Missense_Mutation	SNP	C	C3N-00560_TP	90359	32633026	105761691	651	18590											
TAF1L	0	.	GRCh38	chr9	32633579	32633579	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcctctcttgttctctcatCttggccttttttttgatgtg	2	22	7	10	0	4	1	1	1	3	0	6	1	4	1	2	1	1	1	2	1	0	7			C3N-00560_TP	C3N-00560_NB	C	C																c.2001G>C	p.Lys667Asn	p.K667N	ENST00000242310	1/1	322	223	99	269	269	0	strelka-varscan-mutect	TAF1L,missense_variant,p.Lys667Asn,ENST00000242310,NM_153809.2;RP11-555J4.4,non_coding_transcript_exon_variant,,ENST00000430787,;	G	ENST00000242310	Transcript	missense_variant	2091/6216	2001/5481	667/1826	K/N	aaG/aaC	COSM3952656	1		-1	TAF1L	HGNC	HGNC:18056	protein_coding	YES	CCDS35003.1	ENSP00000418379	Q8IZX4		UPI000007408A	NM_153809.2	deleterious(0)		1/1		Pfam_domain:PF12157,PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0											1						MODERATE		SNV			1	1										PASS		.	.												G	3	3	57	32633579	32633579	C	G	1	0	0	0	0	1	0	0	0	15919	912	32	4		4	TAF1L	9	32633579	Missense_Mutation	SNP	C	C3N-00560_TP	553	32633579	105761138	652	18591											
UNC13B	0	.	GRCh38	chr9	35403544	35403544	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgataagaagaggaagttcAcaaccaaatccaaaagcaac	20	5	8	8	0	1	3	1	1	0	2	2	4	2	4	2	1	3	2	2	1	8	2	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.4435A>T	p.Thr1479Ser	p.T1479S	ENST00000378495	38/39	172	108	64	124	124	0	strelka-varscan-mutect	UNC13B,missense_variant,p.Thr4228Ser,ENST00000635942,;UNC13B,missense_variant,p.Thr1878Ser,ENST00000636694,;UNC13B,missense_variant,p.Thr1085Ser,ENST00000617908,;UNC13B,missense_variant,p.Thr1498Ser,ENST00000619578,;UNC13B,missense_variant,p.Thr1479Ser,ENST00000378495,NM_006377.3;UNC13B,missense_variant,p.Thr1510Ser,ENST00000396787,;UNC13B,missense_variant,p.Thr1085Ser,ENST00000378496,;UNC13B,downstream_gene_variant,,ENST00000481299,;UNC13B,non_coding_transcript_exon_variant,,ENST00000637271,;ATP8B5P,upstream_gene_variant,,ENST00000430846,;ATP8B5P,upstream_gene_variant,,ENST00000329395,;ATP8B5P,upstream_gene_variant,,ENST00000439972,;UNC13B,3_prime_UTR_variant,,ENST00000634487,;	T	ENST00000378495	Transcript	missense_variant	4657/6303	4435/4776	1479/1591	T/S	Aca/Tca		1		1	UNC13B	HGNC	HGNC:12566	protein_coding	YES	CCDS6579.1	ENSP00000367756	O14795		UPI0000211336	NM_006377.3	tolerated(0.35)		38/39		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10480,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	35403544	35403544	A	T	1	0	0	0	0	1	0	0	0	17509	159	6	4		4	UNC13B	9	35403544	Missense_Mutation	SNP	A	C3N-00560_TP	2769965	35403544	102991173	653	18592											
ALDH1B1	0	.	GRCh38	chr9	38395771	38395771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcttcctggcaccccGgctgcttagcctccagggca	4	8	12	17	2	0	0	0	0	0	0	2	0	2	0	5	3	3	6	5	3	1	2	rs61757680		C3N-00560_TP	C3N-00560_NB	G	G																c.23G>T	p.Arg8Leu	p.R8L	ENST00000377698	2/2	60	42	18	44	44	0	strelka-varscan-mutect	ALDH1B1,missense_variant,p.Arg8Leu,ENST00000377698,NM_000692.4;ALDH1B1,missense_variant,p.Arg8Leu,ENST00000635162,;	T	ENST00000377698	Transcript	missense_variant	176/3066	23/1554	8/517	R/L	cGg/cTg	rs61757680,COSM3907431	1		1	ALDH1B1	HGNC	HGNC:407	protein_coding	YES	CCDS6615.1	ENSP00000366927	P30837		UPI0000073000	NM_000692.4	tolerated(0.18)		2/2													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs61757680	.												T	3	4	57	38395771	38395771	G	T	1	0	0	0	0	1	0	0	0	593	1116	39	1		1	ALDH1B1	9	38395771	Missense_Mutation	SNP	G	C3N-00560_TP	2992227	38395771	99998946	654	18593											
CNTNAP3	0	.	GRCh38	chr9	39086808	39086808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcaaaggtaaatgcatcagGattttgatgtctatctagct	13	14	8	6	0	4	1	2	1	2	0	4	2	4	2	0	2	2	3	0	2	5	5	rs267602246		C3N-00560_TP	C3N-00560_NB	G	G																c.3262C>A	p.Pro1088Thr	p.P1088T	ENST00000297668	20/24	250	184	66	297	297	0	strelka-varscan-mutect	CNTNAP3,missense_variant,p.Pro1088Thr,ENST00000297668,NM_033655.3;CNTNAP3,missense_variant,p.Pro1007Thr,ENST00000377656,;CNTNAP3,missense_variant,p.Pro1000Thr,ENST00000358144,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000493965,;CNTNAP3,upstream_gene_variant,,ENST00000477002,;	T	ENST00000297668	Transcript	missense_variant	3336/5064	3262/3867	1088/1288	P/T	Cct/Act	rs267602246	1		-1	CNTNAP3	HGNC	HGNC:13834	protein_coding	YES	CCDS6616.1	ENSP00000297668	Q9BZ76		UPI000013E43B	NM_033655.3	tolerated(0.09)		20/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs267602246	.												T	3	4	57	39086808	39086808	G	T	1	0	0	0	0	1	0	0	0	3429	1174	41	2		2	CNTNAP3	9	39086808	Missense_Mutation	SNP	G	C3N-00560_TP	691037	39086808	99307909	655	18594											
SPATA31A1	0	.	GRCh38	chr9	39355836	39355836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcactttggtgtttgccCtggggttcttcttcctatta	3	19	8	11	0	3	0	1	0	2	0	5	0	5	0	3	3	1	2	3	3	2	7	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.148C>A	p.Leu50Met	p.L50M	ENST00000377647	1/4	15	8	7	21	21	0	strelka-varscan-mutect	SPATA31A1,missense_variant,p.Leu50Met,ENST00000377647,NM_001085452.2;RP11-347J14.4,downstream_gene_variant,,ENST00000615174,;SPATA31A1,upstream_gene_variant,,ENST00000473440,;	A	ENST00000377647	Transcript	missense_variant	168/4256	148/4086	50/1361	L/M	Ctg/Atg		1		1	SPATA31A1	HGNC	HGNC:23394	protein_coding	YES	CCDS43808.2	ENSP00000366875		A0A0R4J2F1	UPI0001AE6DFD	NM_001085452.2	deleterious(0.03)		1/4		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	39355836	39355836	C	A	1	0	0	0	0	1	0	0	0	15343	680	24	2		2	SPATA31A1	9	39355836	Missense_Mutation	SNP	C	C3N-00560_TP	269028	39355836	99038881	656	18595											
SPATA31A1	0	.	GRCh38	chr9	39359401	39359401	+	Frame_Shift_Del	DEL	C	C	-																															aaactcagcaccctgaatggCctttgttgaggagacaacta																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1679delC	p.Pro560LeufsTer3	p.P560Lfs*3	ENST00000377647	4/4	281	237	44	230	230	0	sindel-varindel-pindel	SPATA31A1,frameshift_variant,p.Pro560LeufsTer3,ENST00000377647,NM_001085452.2;RP11-347J14.4,downstream_gene_variant,,ENST00000615174,;SPATA31A1,downstream_gene_variant,,ENST00000473440,;	-	ENST00000377647	Transcript	frameshift_variant	1698/4256	1678/4086	560/1361	P/X	Cct/ct		1		1	SPATA31A1	HGNC	HGNC:23394	protein_coding	YES	CCDS43808.2	ENSP00000366875		A0A0R4J2F1	UPI0001AE6DFD	NM_001085452.2			4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18,Pfam_domain:PF14650																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	57	39359401	39359401	C	-	1	0	1	0	1	0	0	0	0	15343	739	26	0		0	SPATA31A1	9	39359401	Frame_Shift_Del	DEL	C	C3N-00560_TP	3565	39359401	99035316	657	18596											
SPATA31A3	0	.	GRCh38	chr9	66990127	66990127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctctttcgcccacctcaCctggggggtctggaccggag	4	9	14	14	2	3	0	1	0	2	0	4	2	3	2	4	5	1	1	4	5	0	1	rs199602513		C3N-00560_TP	C3N-00560_NB	C	C																c.371G>T	p.Gly124Val	p.G124V	ENST00000428649	4/4	225	161	64	213	213	0	strelka-varscan-mutect	SPATA31A3,missense_variant,p.Gly124Val,ENST00000428649,NM_001083124.1;RP11-395E19.2,downstream_gene_variant,,ENST00000616253,;	A	ENST00000428649	Transcript	missense_variant	433/4256	371/4044	124/1347	G/V	gGt/gTt	rs199602513	1		-1	SPATA31A3	HGNC	HGNC:32003	protein_coding	YES	CCDS78400.1	ENSP00000485118	Q5VYP0		UPI00004588FC	NM_001083124.1	deleterious(0)		4/4		Pfam_domain:PF15371,hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		rs199602513	.												A	3	1	57	66990127	66990127	C	A	1	0	0	0	0	1	0	0	0	15344	507	18	2		2	SPATA31A3	9	66990127	Missense_Mutation	SNP	C	C3N-00560_TP	27630726	66990127	71404590	658	18597											
TRPM3	0	.	GRCh38	chr9	70537080	70537080	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaatggcttcgcatacGgggcattaaggttggagaag	13	8	15	5	2	0	2	0	0	0	2	1	4	0	2	0	5	1	4	0	5	5	4	rs149067881		C3N-00560_TP	C3N-00560_NB	G	G																c.3997C>G	p.Arg1333Gly	p.R1333G	ENST00000377110	25/25	102	71	31	141	141	0	strelka-varscan-mutect	TRPM3,missense_variant,p.Arg1333Gly,ENST00000377110,NM_001007471.2;TRPM3,missense_variant,p.Arg1195Gly,ENST00000360823,NM_206944.3,NM_206947.3;TRPM3,missense_variant,p.Arg1192Gly,ENST00000377105,NM_024971.5;TRPM3,missense_variant,p.Arg1337Gly,ENST00000357533,;TRPM3,missense_variant,p.Arg1205Gly,ENST00000396292,NM_206946.3;TRPM3,missense_variant,p.Arg1195Gly,ENST00000358082,;TRPM3,missense_variant,p.Arg1192Gly,ENST00000396285,NM_020952.4;TRPM3,missense_variant,p.Arg1192Gly,ENST00000408909,;TRPM3,missense_variant,p.Arg1182Gly,ENST00000396280,NM_206945.3;TRPM3,intron_variant,,ENST00000377111,;	C	ENST00000377110	Transcript	missense_variant	4241/12258	3997/5124	1333/1707	R/G	Cgt/Ggt	rs149067881	1		-1	TRPM3	HGNC	HGNC:17992	protein_coding	YES	CCDS43835.1	ENSP00000366314	Q9HCF6		UPI0001596895	NM_001007471.2	deleterious_low_confidence(0.04)		25/25		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7																	MODERATE	1	SNV	1			1										PASS		rs149067881	.												C	3	2	57	70537080	70537080	G	C	1	0	0	0	0	1	0	0	0	17093	1116	39	4		4	TRPM3	9	70537080	Missense_Mutation	SNP	G	C3N-00560_TP	3546953	70537080	67857637	659	18598											
TRPM3	0	.	GRCh38	chr9	70625326	70625326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attctgtagtctgggggcagGttcccctatcagggtagaat	8	12	13	8	0	3	1	1	0	2	1	4	1	4	1	2	4	0	4	2	4	4	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1638C>A	p.Asn546Lys	p.N546K	ENST00000377110	13/25	121	66	55	146	146	0	strelka-varscan-mutect	TRPM3,missense_variant,p.Asn546Lys,ENST00000377110,NM_001007471.2;TRPM3,missense_variant,p.Asn418Lys,ENST00000360823,NM_206944.3,NM_206947.3;TRPM3,missense_variant,p.Asn405Lys,ENST00000377105,NM_024971.5;TRPM3,missense_variant,p.Asn560Lys,ENST00000357533,;TRPM3,missense_variant,p.Asn418Lys,ENST00000396292,NM_206946.3;TRPM3,missense_variant,p.Asn418Lys,ENST00000358082,;TRPM3,missense_variant,p.Asn393Lys,ENST00000396285,NM_020952.4;TRPM3,missense_variant,p.Asn405Lys,ENST00000408909,;TRPM3,missense_variant,p.Asn405Lys,ENST00000396280,NM_206945.3;TRPM3,missense_variant,p.Asn546Lys,ENST00000377111,;	T	ENST00000377110	Transcript	missense_variant	1882/12258	1638/5124	546/1707	N/K	aaC/aaA		1		-1	TRPM3	HGNC	HGNC:17992	protein_coding	YES	CCDS43835.1	ENSP00000366314	Q9HCF6		UPI0001596895	NM_001007471.2	deleterious(0.01)		13/25		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	70625326	70625326	G	T	1	0	0	0	0	1	0	0	0	17093	1275	44	2		2	TRPM3	9	70625326	Missense_Mutation	SNP	G	C3N-00560_TP	88246	70625326	67769391	660	18599											
PRUNE2	0	.	GRCh38	chr9	76705800	76705800	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttttcagaatcgagttcTgcattggatgggacaaactc	10	12	11	8	2	2	1	1	0	1	1	4	4	2	3	0	2	2	3	0	2	2	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.6474A>T	p.=	p.A2158A	ENST00000376718	8/19	175	92	83	178	178	0	strelka-varscan-mutect	PRUNE2,synonymous_variant,p.=,ENST00000376718,NM_015225.2;PRUNE2,synonymous_variant,p.=,ENST00000428286,;PRUNE2,synonymous_variant,p.=,ENST00000443509,NM_001308047.1,NM_001308048.1;PRUNE2,synonymous_variant,p.=,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	A	ENST00000376718	Transcript	synonymous_variant	6598/12584	6474/9267	2158/3088	A	gcA/gcT		1		-1	PRUNE2	HGNC	HGNC:25209	protein_coding	YES	CCDS47982.1	ENSP00000365908	Q8WUY3		UPI0001612CC0	NM_015225.2			8/19		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	57	76705800	76705800	T	A	1	0	0	0	0	0	0	0	1	12791	1567	55	4		4	PRUNE2	9	76705800	Silent	SNP	T	C3N-00560_TP	6080474	76705800	61688917	661	18600											
SPATA31D1	0	.	GRCh38	chr9	81992889	81992889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actctgagagagacctagaaActcatatgatgcatctgtca	14	10	8	9	0	4	4	2	2	2	3	4	6	4	4	1	0	2	1	1	0	3	2			C3N-00560_TP	C3N-00560_NB	A	A																c.2419A>G	p.Thr807Ala	p.T807A	ENST00000344803	4/4	343	205	138	405	403	2	strelka-varscan-mutect	SPATA31D1,missense_variant,p.Thr807Ala,ENST00000344803,NM_001001670.2;RP11-15B24.5,intron_variant,,ENST00000637606,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	G	ENST00000344803	Transcript	missense_variant	2466/4833	2419/4731	807/1576	T/A	Act/Gct	COSM487593,COSM487594	1		1	SPATA31D1	HGNC	HGNC:37283	protein_coding	YES	CCDS47986.1	ENSP00000341988	Q6ZQQ2		UPI00001C10A6	NM_001001670.2	tolerated(0.17)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF12,Pfam_domain:PF14650											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												G	3	3	57	81992889	81992889	A	G	1	0	0	0	0	1	0	0	0	15347	43	2	5		5	SPATA31D1	9	81992889	Missense_Mutation	SNP	A	C3N-00560_TP	5287089	81992889	56401828	662	18601											
GAS1	0	.	GRCh38	chr9	86946528	86946528	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggcggccccgggCgcgtcgcccccgccgtgctg	0	3	19	19	10	0	0	0	0	0	0	1	0	0	0	5	5	1	1	5	5	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.252G>T	p.=	p.A84A	ENST00000298743	1/1	216	111	105	154	154	0	strelka-varscan-mutect	GAS1,synonymous_variant,p.=,ENST00000298743,NM_002048.2;GAS1RR,upstream_gene_variant,,ENST00000415801,;	A	ENST00000298743	Transcript	synonymous_variant	662/2827	252/1038	84/345	A	gcG/gcT		1		-1	GAS1	HGNC	HGNC:4165	protein_coding	YES	CCDS6674.1	ENSP00000298743	P54826		UPI0000140B67	NM_002048.2			1/1		hmmpanther:PTHR16840,hmmpanther:PTHR16840:SF3,Low_complexity_(Seg):seg,SMART_domains:SM00907																	LOW		SNV				1										PASS		.	.												A	2	1	57	86946528	86946528	C	A	1	0	0	0	0	0	0	0	1	6114	755	27	1		1	GAS1	9	86946528	Silent	SNP	C	C3N-00560_TP	4953639	86946528	51448189	663	18602											
S1PR3	0	.	GRCh38	chr9	89001499	89001499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcaacattctgatgtctgGcaagaagacgttcagcctgt	10	11	11	9	1	4	3	2	1	2	2	4	3	4	3	1	2	2	2	1	2	3	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.299G>T	p.Gly100Val	p.G100V	ENST00000375846	1/1	154	124	30	197	197	0	strelka-varscan-mutect	S1PR3,missense_variant,p.Gly100Val,ENST00000375846,;S1PR3,missense_variant,p.Gly100Val,ENST00000358157,NM_005226.3;SHC3,downstream_gene_variant,,ENST00000375835,NM_016848.5;	T	ENST00000375846	Transcript	missense_variant	4994/8505	299/1137	100/378	G/V	gGc/gTc		1		1	S1PR3	HGNC	HGNC:3167	protein_coding	YES	CCDS6680.1	ENSP00000365006	Q99500		UPI0000140B93		deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF24,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01523																	MODERATE		SNV				1										PASS		.	.												T	3	4	57	89001499	89001499	G	T	1	0	0	0	0	1	0	0	0	14054	1203	42	2		2	S1PR3	9	89001499	Missense_Mutation	SNP	G	C3N-00560_TP	2054971	89001499	49393218	664	18603											
PTCH1	0	.	GRCh38	chr9	95476794	95476794	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttattctgtcctgtttcacTgaaggcgtgggccagaagaa	9	13	11	8	1	2	3	1	1	1	2	3	3	3	3	2	2	0	1	2	2	4	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1567A>T	p.Ser523Cys	p.S523C	ENST00000331920	11/24	355	214	141	390	390	0	strelka-varscan-mutect	PTCH1,missense_variant,p.Ser457Cys,ENST00000430669,;PTCH1,missense_variant,p.Ser523Cys,ENST00000331920,NM_000264.3;PTCH1,missense_variant,p.Ser457Cys,ENST00000437951,NM_001083602.1;PTCH1,missense_variant,p.Ser372Cys,ENST00000418258,NM_001083607.1;PTCH1,missense_variant,p.Ser372Cys,ENST00000421141,NM_001083604.1,NM_001083605.1;PTCH1,missense_variant,p.Ser372Cys,ENST00000429896,NM_001083606.1;PTCH1,missense_variant,p.Ser522Cys,ENST00000375274,NM_001083603.1;PTCH1,missense_variant,p.Ser188Cys,ENST00000375271,;PTCH1,downstream_gene_variant,,ENST00000553011,;PTCH1,downstream_gene_variant,,ENST00000547672,;PTCH1,downstream_gene_variant,,ENST00000546820,;PTCH1,downstream_gene_variant,,ENST00000551845,;PTCH1,downstream_gene_variant,,ENST00000548420,;PTCH1,downstream_gene_variant,,ENST00000548379,;PTCH1,downstream_gene_variant,,ENST00000553256,;PTCH1,downstream_gene_variant,,ENST00000548945,;PTCH1,missense_variant,p.Ser402Cys,ENST00000375290,;PTCH1,downstream_gene_variant,,ENST00000550914,;PTCH1,downstream_gene_variant,,ENST00000488809,;	A	ENST00000331920	Transcript	missense_variant	1867/8057	1567/4344	523/1447	S/C	Agt/Tgt		1		-1	PTCH1	HGNC	HGNC:9585	protein_coding	YES	CCDS6714.1	ENSP00000332353	Q13635		UPI00001AFF9C	NM_000264.3	deleterious(0.01)		11/24		Gene3D:2j8sB01,Pfam_domain:PF02460,PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF61,Superfamily_domains:SSF82866,TIGRFAM_domain:TIGR00918																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	95476794	95476794	T	A	1	0	0	0	0	1	0	0	0	12883	1580	55	4		4	PTCH1	9	95476794	Missense_Mutation	SNP	T	C3N-00560_TP	6475295	95476794	42917923	665	18604											
ZNF367	0	.	GRCh38	chr9	96388453	96388454	+	Frame_Shift_Ins	INS	-	-	A																															tgcgctgctctctcatttccINScaatacctatgtgaaatgca																								novel		C3N-00560_TP	C3N-00560_NB	-	-																c.836_837insT	p.Trp279CysfsTer20	p.W279Cfs*20	ENST00000375256	5/5	102	50	52	128	128	0	sindel-varindel-pindel	ZNF367,frameshift_variant,p.Trp279CysfsTer20,ENST00000375256,NM_153695.3;SLC35D2,upstream_gene_variant,,ENST00000253270,NM_007001.2;SLC35D2,upstream_gene_variant,,ENST00000375259,NM_001286990.1;SLC35D2,upstream_gene_variant,,ENST00000375257,;SLC35D2,upstream_gene_variant,,ENST00000482643,;	A	ENST00000375256	Transcript	frameshift_variant	1133-1134/3646	836-837/1053	279/350	W/CX	tgg/tgTg		1		-1	ZNF367	HGNC	HGNC:18320	protein_coding	YES	CCDS6718.1	ENSP00000364405	Q7RTV3		UPI000013E47A	NM_153695.3			5/5																			HIGH	1	insertion	1			1										PASS		.	.												A	7	5	57	96388453	96388453	-	A	1	0	1	1	0	0	0	0	0	18443	624	22	0		0	ZNF367	9	96388453	Frame_Shift_Ins	INS	-	C3N-00560_TP	911659	96388453	42006264	666	18605											
HEMGN	0	.	GRCh38	chr9	97931099	97931099	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctataggtgccagtgctTtctccactatttccttttct	5	19	5	12	0	3	0	0	0	3	0	6	0	4	0	3	1	2	1	3	1	3	7	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.296A>T	p.Lys99Ile	p.K99I	ENST00000616898	3/4	230	136	94	262	262	0	strelka-varscan-mutect	HEMGN,missense_variant,p.Lys99Ile,ENST00000616898,NM_197978.2;HEMGN,missense_variant,p.Lys99Ile,ENST00000259456,NM_018437.4;	A	ENST00000616898	Transcript	missense_variant	553/2305	296/1455	99/484	K/I	aAa/aTa		1		-1	HEMGN	HGNC	HGNC:17509	protein_coding	YES	CCDS6731.1	ENSP00000480020	Q9BXL5	A0A024R162	UPI000004D311	NM_197978.2	deleterious(0.03)		3/4		hmmpanther:PTHR15993,hmmpanther:PTHR15993:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	97931099	97931099	T	A	1	0	0	0	0	1	0	0	0	6933	1841	64	4		4	HEMGN	9	97931099	Missense_Mutation	SNP	T	C3N-00560_TP	1542646	97931099	40463618	667	18606											
ERP44	0	.	GRCh38	chr9	100006564	100006564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagctgtcaatagcgattaCaggacaatctgctggagttt	13	11	10	7	1	2	0	1	0	1	0	2	3	2	2	0	2	4	3	0	2	5	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.958G>T	p.Val320Leu	p.V320L	ENST00000262455	10/12	129	88	41	194	194	0	strelka-varscan-mutect	ERP44,missense_variant,p.Val320Leu,ENST00000262455,NM_015051.2;	A	ENST00000262455	Transcript	missense_variant	1158/4854	958/1221	320/406	V/L	Gta/Tta		1		-1	ERP44	HGNC	HGNC:18311	protein_coding	YES	CCDS35082.1	ENSP00000262455	Q9BS26		UPI0000072130	NM_015051.2	tolerated(0.94)		10/12		Pfam_domain:PF13848,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF107,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	100006564	100006564	C	A	1	0	0	0	0	1	0	0	0	5101	478	17	2		2	ERP44	9	100006564	Missense_Mutation	SNP	C	C3N-00560_TP	2075465	100006564	38388153	668	18607											
TXN	0	.	GRCh38	chr9	110244203	110244203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagcttttccttattggctCcagaaaattcacccacctgt	10	13	5	13	0	1	1	1	0	0	1	3	1	3	1	4	1	1	2	4	1	4	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.272G>T	p.Gly91Val	p.G91V	ENST00000374517	5/5	72	50	22	135	134	1	strelka-varscan-mutect	TXN,missense_variant,p.Gly91Val,ENST00000374517,NM_003329.3;TXN,missense_variant,p.Gly71Val,ENST00000374515,NM_001244938.1;TXN,non_coding_transcript_exon_variant,,ENST00000487892,;	A	ENST00000374517	Transcript	missense_variant	477/869	272/318	91/105	G/V	gGa/gTa		1		-1	TXN	HGNC	HGNC:12435	protein_coding	YES	CCDS35103.1	ENSP00000363641	P10599	H9ZYJ2	UPI000011065C	NM_003329.3	deleterious(0)		5/5		Gene3D:3.40.30.10,Pfam_domain:PF00085,PIRSF_domain:PIRSF000077,PROSITE_profiles:PS51352,hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF18,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	110244203	110244203	C	A	1	0	0	0	0	1	0	0	0	17306	855	30	2		2	TXN	9	110244203	Missense_Mutation	SNP	C	C3N-00560_TP	10237639	110244203	28150514	669	18608											
ZFP37	0	.	GRCh38	chr9	113043387	113043387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatacctaaaagacttccCacattccttacattcatatg	13	14	3	11	0	1	1	1	0	0	1	3	1	3	1	3	0	2	1	3	0	6	8	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1276G>T	p.Gly426Trp	p.G426W	ENST00000553380	4/4	144	90	54	230	230	0	strelka-varscan-mutect	ZFP37,missense_variant,p.Gly411Trp,ENST00000374227,NM_003408.2;ZFP37,missense_variant,p.Gly412Trp,ENST00000555206,NM_001282518.1;ZFP37,missense_variant,p.Gly426Trp,ENST00000553380,NM_001282515.1;ZNF883,intron_variant,,ENST00000619044,NM_001101338.1;	A	ENST00000553380	Transcript	missense_variant	1276/1969	1276/1938	426/645	G/W	Ggg/Tgg		1		-1	ZFP37	HGNC	HGNC:12863	protein_coding	YES	CCDS65110.1	ENSP00000452552	Q9Y6Q3		UPI0001B04BC3	NM_001282515.1	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF147,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	113043387	113043387	C	A	1	0	0	0	0	1	0	0	0	18223	594	21	2		2	ZFP37	9	113043387	Missense_Mutation	SNP	C	C3N-00560_TP	2799184	113043387	25351330	670	18609											
ASTN2	0	.	GRCh38	chr9	116440695	116440695	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgctggactcggaacagCatcgaggctgagacctccat	9	8	13	11	2	0	1	0	1	0	1	3	5	1	3	2	4	3	3	2	4	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3543G>T	p.Met1181Ile	p.M1181I	ENST00000361209	21/22	149	86	63	185	185	0	strelka-varscan-mutect	ASTN2,missense_variant,p.Met1232Ile,ENST00000313400,;ASTN2,missense_variant,p.Met1181Ile,ENST00000361209,NM_014010.4;ASTN2,missense_variant,p.Met284Ile,ENST00000361477,NM_198187.3;ASTN2,missense_variant,p.Met955Ile,ENST00000373986,;ASTN2,missense_variant,p.Met333Ile,ENST00000288520,NM_198186.3;ASTN2,missense_variant,p.Met284Ile,ENST00000341734,NM_001184734.1,NM_198188.2;ASTN2,missense_variant,p.Met14Ile,ENST00000417725,;	A	ENST00000361209	Transcript	missense_variant	3675/4622	3543/3867	1181/1288	M/I	atG/atT		1		-1	ASTN2	HGNC	HGNC:17021	protein_coding	YES	CCDS6815.1	ENSP00000354504	O75129		UPI00002116D7	NM_014010.4	tolerated(0.09)		21/22		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	116440695	116440695	C	A	1	0	0	0	0	1	0	0	0	1212	710	25	2		2	ASTN2	9	116440695	Missense_Mutation	SNP	C	C3N-00560_TP	3397308	116440695	21954022	671	18610											
RBM18	0	.	GRCh38	chr9	122241994	122241994	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atactctgcatcaggattttCcgccatcattttcagttttg	8	17	6	10	1	4	0	3	0	1	0	5	1	5	1	2	1	2	2	2	1	1	7	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.463G>T	p.Glu155Ter	p.E155*	ENST00000417201	6/6	163	93	70	184	184	0	strelka-varscan-mutect	RBM18,stop_gained,p.Glu155Ter,ENST00000417201,NM_033117.3;RBM18,non_coding_transcript_exon_variant,,ENST00000483428,;RBM18,non_coding_transcript_exon_variant,,ENST00000491850,;	A	ENST00000417201	Transcript	stop_gained	604/4974	463/573	155/190	E/*	Gaa/Taa		1		-1	RBM18	HGNC	HGNC:28413	protein_coding	YES	CCDS6839.1	ENSP00000409315	Q96H35		UPI0000046802	NM_033117.3			6/6		hmmpanther:PTHR21245:SF2,hmmpanther:PTHR21245																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	122241994	122241994	C	A	1	0	0	0	0	0	1	0	0	13285	864	30	2		2	RBM18	9	122241994	Nonsense_Mutation	SNP	C	C3N-00560_TP	5801299	122241994	16152723	672	18611											
OR1L1	0	.	GRCh38	chr9	122661813	122661813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctctttgctgtgttcctccCcatctaccttatcacagtga	6	15	6	14	0	3	1	1	1	2	0	5	1	5	1	4	0	2	3	4	0	2	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.98C>T	p.Pro33Leu	p.P33L	ENST00000309623	1/1	132	75	57	160	160	0	strelka-varscan-mutect	OR1L1,missense_variant,p.Pro83Leu,ENST00000373686,;OR1L1,missense_variant,p.Pro33Leu,ENST00000309623,NM_001005236.3;	T	ENST00000309623	Transcript	missense_variant	98/933	98/933	33/310	P/L	cCc/cTc		1		1	OR1L1	HGNC	HGNC:8213	protein_coding	YES	CCDS35127.2	ENSP00000310773		A0A0B4J1S0	UPI0000041E03	NM_001005236.3	tolerated(0.66)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF39,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	57	122661813	122661813	C	T	1	0	0	0	0	1	0	0	0	11041	623	22	3		3	OR1L1	9	122661813	Missense_Mutation	SNP	C	C3N-00560_TP	419819	122661813	15732904	673	18612											
SH3GLB2	0	.	GRCh38	chr9	129014489	129014489	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccagacgccggttttggagGagccgcctctccttctacag	6	10	11	14	3	2	1	0	0	2	1	4	3	3	3	5	3	2	1	5	3	1	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.483C>T	p.=	p.L161L	ENST00000372554	5/13	227	171	56	186	185	1	strelka-varscan-mutect	SH3GLB2,synonymous_variant,p.=,ENST00000372564,NM_001287046.1,NM_020145.3;SH3GLB2,synonymous_variant,p.=,ENST00000372554,NM_001287045.1;SH3GLB2,synonymous_variant,p.=,ENST00000417224,;SH3GLB2,synonymous_variant,p.=,ENST00000416629,;SH3GLB2,synonymous_variant,p.=,ENST00000372559,;SH3GLB2,3_prime_UTR_variant,,ENST00000455407,;SH3GLB2,3_prime_UTR_variant,,ENST00000416230,;SH3GLB2,3_prime_UTR_variant,,ENST00000425236,;SH3GLB2,non_coding_transcript_exon_variant,,ENST00000483980,;SH3GLB2,upstream_gene_variant,,ENST00000461811,;SH3GLB2,upstream_gene_variant,,ENST00000479237,;SH3GLB2,upstream_gene_variant,,ENST00000477165,;	A	ENST00000372554	Transcript	synonymous_variant	608/1985	483/1215	161/404	L	ctC/ctT		1		-1	SH3GLB2	HGNC	HGNC:10834	protein_coding	YES	CCDS69680.1	ENSP00000361634	Q9NR46		UPI000004A0D5	NM_001287045.1			5/13		Gene3D:1.20.1270.60,Pfam_domain:PF03114,PROSITE_profiles:PS51021,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF161,Low_complexity_(Seg):seg,SMART_domains:SM00721,Superfamily_domains:SSF103657																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	129014489	129014489	G	A	1	0	0	0	0	0	0	0	1	14513	1161	41	3		3	SH3GLB2	9	129014489	Silent	SNP	G	C3N-00560_TP	6352676	129014489	9380228	674	18613											
FAM73B	0	.	GRCh38	chr9	129049390	129049390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgcccagatgatggcaGtgaactcatccagccccaca	10	7	10	14	1	1	3	1	2	0	1	2	3	2	3	4	2	2	1	4	2	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.430G>T	p.Val144Leu	p.V144L	ENST00000358369	5/16	249	162	87	175	175	0	strelka-varscan-mutect	FAM73B,missense_variant,p.Val144Leu,ENST00000358369,NM_032809.2;FAM73B,downstream_gene_variant,,ENST00000474534,;FAM73B,missense_variant,p.Val144Leu,ENST00000439290,;FAM73B,missense_variant,p.Val144Leu,ENST00000445183,;	T	ENST00000358369	Transcript	missense_variant	656/3637	430/1782	144/593	V/L	Gtg/Ttg		1		1	FAM73B	HGNC	HGNC:23621	protein_coding	YES	CCDS6917.1	ENSP00000351138	Q7L4E1		UPI00001B4EFD	NM_032809.2	tolerated(0.16)		5/16		Low_complexity_(Seg):seg,hmmpanther:PTHR21508,hmmpanther:PTHR21508:SF2,Pfam_domain:PF10265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	129049390	129049390	G	T	1	0	0	0	0	1	0	0	0	5484	1029	36	2		2	FAM73B	9	129049390	Missense_Mutation	SNP	G	C3N-00560_TP	34901	129049390	9345327	675	18614											
PTPA	0	.	GRCh38	chr9	129120521	129120521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttgtcaagattcttcaGaggaggcccctccagccact	8	13	8	12	0	3	2	2	0	1	2	4	3	4	3	4	2	1	0	4	2	1	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.40G>A	p.Glu14Lys	p.E14K	ENST00000393370	2/10	228	201	27	131	131	0	strelka-varscan-mutect	PTPA,missense_variant,p.Glu14Lys,ENST00000337738,NM_178001.2;PTPA,missense_variant,p.Glu14Lys,ENST00000348141,;PTPA,missense_variant,p.Glu14Lys,ENST00000393370,NM_178000.2;PTPA,missense_variant,p.Glu14Lys,ENST00000358994,NM_021131.4;PTPA,missense_variant,p.Glu14Lys,ENST00000357197,NM_001271832.1;PTPA,missense_variant,p.Glu14Lys,ENST00000355007,NM_178003.2;PTPA,missense_variant,p.Glu14Lys,ENST00000347048,;PTPA,missense_variant,p.Glu14Lys,ENST00000445241,;PTPA,missense_variant,p.Glu14Lys,ENST00000455292,;PTPA,missense_variant,p.Glu31Lys,ENST00000417504,;PTPA,5_prime_UTR_variant,,ENST00000452489,NM_001193397.1;PTPA,5_prime_UTR_variant,,ENST00000417728,;PTPA,5_prime_UTR_variant,,ENST00000453358,;PTPA,5_prime_UTR_variant,,ENST00000440346,;PTPA,intron_variant,,ENST00000414331,;	A	ENST00000393370	Transcript	missense_variant	323/2737	40/972	14/323	E/K	Gag/Aag		1		1	PTPA	HGNC	HGNC:9308	protein_coding	YES	CCDS6920.1	ENSP00000377036	Q15257		UPI000013D6D6	NM_178000.2	tolerated(0.17)		2/10		Low_complexity_(Seg):seg,hmmpanther:PTHR10012,PIRSF_domain:PIRSF016325,Superfamily_domains:SSF140984																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	129120521	129120521	G	A	1	0	0	0	0	1	0	0	0	12929	943	33	3		3	PTPA	9	129120521	Missense_Mutation	SNP	G	C3N-00560_TP	71131	129120521	9274196	676	18615											
HMCN2	0	.	GRCh38	chr9	130360436	130360436	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttccccagatgtctccTggttcaagggccaccaacct	7	11	7	16	0	2	1	1	0	1	1	5	1	4	1	7	2	1	1	7	2	2	2	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.5779T>A	p.Trp1927Arg	p.W1927R	ENST00000624552	38/98	145	106	39	97	97	0	varscan-mutect	HMCN2,missense_variant,p.Trp1927Arg,ENST00000624552,NM_001291815.1;	A	ENST00000624552	Transcript	missense_variant	5779/15610	5779/15180	1927/5059	W/R	Tgg/Agg		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	deleterious(0)		38/98		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	130360436	130360436	T	A	1	0	0	0	0	1	0	0	0	7112	1580	55	4		4	HMCN2	9	130360436	Missense_Mutation	SNP	T	C3N-00560_TP	1239915	130360436	8034281	677	18616											
HMCN2	0	.	GRCh38	chr9	130393907	130393907	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgagcaggggcccagccTgcagctggaggcagtgggag	7	4	18	12	1	0	0	0	0	0	0	1	3	0	2	3	5	4	4	3	5	0	0	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.10397T>A	p.Leu3466Gln	p.L3466Q	ENST00000624552	68/98	230	152	78	204	204	0	strelka-varscan-mutect	HMCN2,missense_variant,p.Leu3466Gln,ENST00000624552,NM_001291815.1;HMCN2,3_prime_UTR_variant,,ENST00000487727,;HMCN2,upstream_gene_variant,,ENST00000480829,;	A	ENST00000624552	Transcript	missense_variant	10397/15610	10397/15180	3466/5059	L/Q	cTg/cAg		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	deleterious(0)		68/98		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	130393907	130393907	T	A	1	0	0	0	0	1	0	0	0	7112	1580	55	4		4	HMCN2	9	130393907	Missense_Mutation	SNP	T	C3N-00560_TP	33471	130393907	8000810	678	18617											
HMCN2	0	.	GRCh38	chr9	130406009	130406009	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacgccgtgggccgggccCgccgccgcgtgcacctcacc	5	3	14	19	7	1	1	1	0	0	1	1	1	1	1	7	2	2	1	7	2	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.12334C>G	p.Arg4112Gly	p.R4112G	ENST00000624552	82/98	221	136	85	161	161	0	strelka-varscan-mutect	HMCN2,missense_variant,p.Arg4112Gly,ENST00000624552,NM_001291815.1;HMCN2,3_prime_UTR_variant,,ENST00000487727,;HMCN2,non_coding_transcript_exon_variant,,ENST00000480829,;	G	ENST00000624552	Transcript	missense_variant	12334/15610	12334/15180	4112/5059	R/G	Cgc/Ggc		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	tolerated(0.14)		82/98		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs986624800	.												G	3	3	57	130406009	130406009	C	G	1	0	0	0	0	1	0	0	0	7112	652	23	4		4	HMCN2	9	130406009	Missense_Mutation	SNP	C	C3N-00560_TP	12102	130406009	7988708	679	18618											
HMCN2	0	.	GRCh38	chr9	130407612	130407612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggcagcacgctgcagcggGccgctgtctccagagaagac	9	4	15	13	3	1	2	0	0	1	2	2	4	1	2	2	2	3	5	2	2	1	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.12535G>A	p.Ala4179Thr	p.A4179T	ENST00000624552	83/98	226	166	60	159	159	0	strelka-varscan-mutect	HMCN2,missense_variant,p.Ala4179Thr,ENST00000624552,NM_001291815.1;HMCN2,3_prime_UTR_variant,,ENST00000487727,;HMCN2,downstream_gene_variant,,ENST00000480829,;	A	ENST00000624552	Transcript	missense_variant	12535/15610	12535/15180	4179/5059	A/T	Gcc/Acc		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	tolerated(0.53)		83/98		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	130407612	130407612	G	A	1	0	0	0	0	1	0	0	0	7112	1203	42	3		3	HMCN2	9	130407612	Missense_Mutation	SNP	G	C3N-00560_TP	1603	130407612	7987105	680	18619											
ASS1	0	.	GRCh38	chr9	130480400	130480400	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaggggcaagcatggcgtGggccgtattgacatcgtgga	9	7	16	9	3	0	1	0	1	0	0	1	2	0	2	1	5	1	3	1	5	2	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.789G>T	p.=	p.V263V	ENST00000372394	12/16	707	523	184	539	538	1	strelka-varscan-mutect	ASS1,synonymous_variant,p.=,ENST00000372394,;ASS1,synonymous_variant,p.=,ENST00000352480,NM_054012.3;ASS1,synonymous_variant,p.=,ENST00000372393,NM_000050.4;ASS1,non_coding_transcript_exon_variant,,ENST00000372386,;ASS1,non_coding_transcript_exon_variant,,ENST00000492400,;ASS1,non_coding_transcript_exon_variant,,ENST00000493984,;ASS1,non_coding_transcript_exon_variant,,ENST00000470849,;ASS1,downstream_gene_variant,,ENST00000467695,;	T	ENST00000372394	Transcript	synonymous_variant	1270/1973	789/1239	263/412	V	gtG/gtT		1		1	ASS1	HGNC	HGNC:758	protein_coding	YES	CCDS6933.1	ENSP00000361471	P00966	Q5T6L4	UPI00000015D6				12/16		Gene3D:3.90.1260.10,HAMAP:MF_00005,Pfam_domain:PF00764,hmmpanther:PTHR11587,Superfamily_domains:SSF69864,TIGRFAM_domain:TIGR00032																	LOW	1	SNV	2			1										PASS		rs1419381608	.												T	2	4	57	130480400	130480400	G	T	1	0	0	0	0	0	0	0	1	1208	1335	47	2		2	ASS1	9	130480400	Silent	SNP	G	C3N-00560_TP	72788	130480400	7914317	681	18620											
GFI1B	0	.	GRCh38	chr9	132988417	132988417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcccgccttggacttcagCctccgctactccccaggcat	6	8	9	18	2	1	0	1	0	0	0	3	2	3	1	6	2	3	2	6	2	1	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.459C>A	p.Ser153Arg	p.S153R	ENST00000339463	8/11	215	157	58	166	166	0	strelka-varscan-mutect	GFI1B,missense_variant,p.Ser153Arg,ENST00000339463,NM_004188.5;GFI1B,missense_variant,p.Ser153Arg,ENST00000636137,;GFI1B,missense_variant,p.Ser153Arg,ENST00000372122,;GFI1B,missense_variant,p.Ser153Arg,ENST00000636263,;GFI1B,missense_variant,p.Ser153Arg,ENST00000372123,NM_001135031.1;	A	ENST00000339463	Transcript	missense_variant	1278/2449	459/993	153/330	S/R	agC/agA		1		1	GFI1B	HGNC	HGNC:4238	protein_coding	YES	CCDS6957.1	ENSP00000344782	Q5VTD9		UPI000013E4EE	NM_004188.5	tolerated(0.07)		8/11		Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	132988417	132988417	C	A	1	0	0	0	0	1	0	0	0	6214	738	26	2		2	GFI1B	9	132988417	Missense_Mutation	SNP	C	C3N-00560_TP	2508017	132988417	5406300	682	18621											
CEL	0	.	GRCh38	chr9	133064429	133064429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgccgtgtacacagaaggtgGgttcgtggaaggcgtcaata	10	8	15	8	4	1	1	1	0	0	1	2	2	1	2	1	4	1	2	1	4	5	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.101G>T	p.Gly34Val	p.G34V	ENST00000372080	2/11	615	496	119	493	492	1	strelka-varscan-mutect	CEL,missense_variant,p.Gly34Val,ENST00000372080,NM_001807.4;CEL,intron_variant,,ENST00000621209,;	T	ENST00000372080	Transcript	missense_variant	117/2384	101/2271	34/756	G/V	gGg/gTg		1		1	CEL	HGNC	HGNC:1848	protein_coding	YES	CCDS43896.1	ENSP00000361151		X6R868	UPI000013E8C6	NM_001807.4	deleterious(0)		2/11		hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF139,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	133064429	133064429	G	T	1	0	0	0	0	1	0	0	0	2916	1232	43	2		2	CEL	9	133064429	Missense_Mutation	SNP	G	C3N-00560_TP	76012	133064429	5330288	683	18622											
ADAMTSL2	0	.	GRCh38	chr9	133544486	133544486	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggttactctctggtgacCcacatcccggctggtgcccg	5	9	11	16	2	1	1	0	1	1	0	3	1	2	1	4	4	2	2	4	4	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.699C>A	p.=	p.T233T	ENST00000354484	8/19	633	452	181	569	568	1	strelka-varscan-mutect	ADAMTSL2,synonymous_variant,p.=,ENST00000393061,;ADAMTSL2,synonymous_variant,p.=,ENST00000354484,NM_001145320.1;ADAMTSL2,synonymous_variant,p.=,ENST00000393060,NM_014694.3;	A	ENST00000354484	Transcript	synonymous_variant	1256/4068	699/2856	233/951	T	acC/acA		1		1	ADAMTSL2	HGNC	HGNC:14631	protein_coding	YES	CCDS6976.1	ENSP00000346478	Q86TH1		UPI000018CEA2	NM_001145320.1			8/19		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF147,Pfam_domain:PF05986																	LOW	1	SNV	1			1										PASS		rs1374421192	.												A	2	1	57	133544486	133544486	C	A	1	0	0	0	0	0	0	0	1	319	610	22	2		2	ADAMTSL2	9	133544486	Silent	SNP	C	C3N-00560_TP	480057	133544486	4850231	684	18623											
RXRA	0	.	GRCh38	chr9	134401791	134401791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatcaacggcatgggccCgcctttctcggtcatcagct	6	9	9	17	3	4	0	3	0	1	0	5	0	4	0	4	3	2	2	4	3	1	1	rs531899705		C3N-00560_TP	C3N-00560_NB	C	C																c.188C>T	p.Pro63Leu	p.P63L	ENST00000481739	2/10	260	246	14	222	222	0	strelka-varscan-mutect	RXRA,missense_variant,p.Pro63Leu,ENST00000481739,NM_002957.5,NM_001291920.1;RXRA,non_coding_transcript_exon_variant,,ENST00000356384,;RXRA,non_coding_transcript_exon_variant,,ENST00000484822,;	T	ENST00000481739	Transcript	missense_variant	240/1846	188/1389	63/462	P/L	cCg/cTg	rs531899705	1		1	RXRA	HGNC	HGNC:10477	protein_coding	YES	CCDS35172.1	ENSP00000419692	P19793	F1D8Q5	UPI0000042A9A	NM_002957.5,NM_001291920.1	tolerated(0.18)		2/10		Pfam_domain:PF11825,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF39																	MODERATE	1	SNV	1			1										PASS		rs531899705	.												T	3	4	57	134401791	134401791	C	T	1	0	0	0	0	1	0	0	0	14024	652	23	1		1	RXRA	9	134401791	Missense_Mutation	SNP	C	C3N-00560_TP	857305	134401791	3992926	685	18624											
COL5A1	0	.	GRCh38	chr9	134753850	134753850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacacaccatgtctccctagGgtccccctgggagcggaggt	7	7	12	15	1	1	0	0	0	1	0	3	2	2	2	4	4	1	0	4	4	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1720G>T	p.Gly574Cys	p.G574C	ENST00000371817	15/66	262	181	81	264	264	0	strelka-varscan-mutect	COL5A1,missense_variant,p.Gly574Cys,ENST00000371817,NM_000093.4;COL5A1,missense_variant,p.Gly574Cys,ENST00000618395,NM_001278074.1;	T	ENST00000371817	Transcript	missense_variant,splice_region_variant	2134/8471	1720/5517	574/1838	G/C	Ggt/Tgt		1		1	COL5A1	HGNC	HGNC:2209	protein_coding	YES	CCDS6982.1	ENSP00000360882	P20908	A0A024R8E5	UPI0000210EE3	NM_000093.4	deleterious(0)		15/66		Pfam_domain:PF01391,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	134753850	134753850	G	T	1	0	0	0	0	1	0	0	0	3485	1246	43	2		2	COL5A1	9	134753850	Missense_Mutation	SNP	G	C3N-00560_TP	352059	134753850	3640867	686	18625											
COL5A1	0	.	GRCh38	chr9	134825794	134825794	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtctctgaaatccaggtGaatactgggtcgatcctaac	10	10	9	12	2	1	2	0	2	1	0	5	3	3	2	3	2	2	0	3	2	4	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4957G>T	p.Glu1653Ter	p.E1653*	ENST00000371817	63/66	482	341	141	381	378	3	strelka-varscan-mutect	COL5A1,stop_gained,p.Glu1653Ter,ENST00000371817,NM_000093.4;COL5A1,stop_gained,p.Glu1653Ter,ENST00000618395,NM_001278074.1;COL5A1,stop_gained,p.Glu73Ter,ENST00000371820,;COL5A1,splice_region_variant,,ENST00000460264,;COL5A1,splice_region_variant,,ENST00000465877,;	T	ENST00000371817	Transcript	stop_gained,splice_region_variant	5371/8471	4957/5517	1653/1838	E/*	Gaa/Taa		1		1	COL5A1	HGNC	HGNC:2209	protein_coding	YES	CCDS6982.1	ENSP00000360882	P20908	A0A024R8E5	UPI0000210EE3	NM_000093.4			63/66		Pfam_domain:PF01410,PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF387,SMART_domains:SM00038																	HIGH	1	SNV	1			1										PASS		rs1286248077	.												T	4	4	57	134825794	134825794	G	T	1	0	0	0	0	0	1	0	0	3485	1304	45	2		2	COL5A1	9	134825794	Nonsense_Mutation	SNP	G	C3N-00560_TP	71944	134825794	3568923	687	18626											
NOTCH1	0	.	GRCh38	chr9	136509827	136509827	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacgcagtccgtgcagtTggccccgttgcggcaggggt	4	8	16	13	4	0	0	0	0	0	0	2	0	2	0	4	4	2	5	4	4	0	2	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.2875A>T	p.Asn959Tyr	p.N959Y	ENST00000277541	18/34	701	488	213	548	547	1	strelka-varscan-mutect	NOTCH1,missense_variant,p.Asn959Tyr,ENST00000277541,NM_017617.3;NOTCH1,upstream_gene_variant,,ENST00000494783,;	A	ENST00000277541	Transcript	missense_variant	2951/9371	2875/7668	959/2555	N/Y	Aac/Tac		1		-1	NOTCH1	HGNC	HGNC:7881	protein_coding	YES	CCDS43905.1	ENSP00000277541	P46531		UPI0000210F68	NM_017617.3	deleterious(0)		18/34		Gene3D:2.10.25.10,PIRSF_domain:PIRSF002279,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF69,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	136509827	136509827	T	A	1	0	0	0	0	1	0	0	0	10592	1812	63	4		4	NOTCH1	9	136509827	Missense_Mutation	SNP	T	C3N-00560_TP	1684033	136509827	1884890	688	18627											
SAPCD2	0	.	GRCh38	chr9	137065656	137065656	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctgctccagctcctTcatctgcttcagctgcaata	6	14	5	16	0	4	0	2	0	2	0	7	0	6	0	3	0	5	5	3	0	2	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.697A>T	p.Lys233Ter	p.K233*	ENST00000409687	3/6	123	90	33	67	67	0	strelka-varscan-mutect	SAPCD2,stop_gained,p.Lys233Ter,ENST00000409687,NM_178448.3;RP11-229P13.23,downstream_gene_variant,,ENST00000456356,;RP11-229P13.22,downstream_gene_variant,,ENST00000435463,;	A	ENST00000409687	Transcript	stop_gained	825/3848	697/1185	233/394	K/*	Aag/Tag		1		-1	SAPCD2	HGNC	HGNC:28055	protein_coding	YES	CCDS7027.2	ENSP00000386348	Q86UD0		UPI00005A8C06	NM_178448.3			3/6		Low_complexity_(Seg):seg,hmmpanther:PTHR14907,hmmpanther:PTHR14907:SF3,Pfam_domain:PF11414																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	137065656	137065656	T	A	1	0	0	0	0	0	1	0	0	14098	1792	62	4		4	SAPCD2	9	137065656	Nonsense_Mutation	SNP	T	C3N-00560_TP	555829	137065656	1329061	689	18628											
NSMF	0	.	GRCh38	chr9	137452369	137452369	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcactgagccccacctggCagaaaatcagcattttccag	12	7	9	13	0	1	2	1	1	0	1	2	3	2	2	4	1	3	3	4	1	2	2	rs761488406		C3N-00560_TP	C3N-00560_NB	C	C																c.1232G>T	p.Cys411Phe	p.C411F	ENST00000371475	12/16	450	320	130	303	303	0	strelka-varscan-mutect	NSMF,missense_variant,p.Cys411Phe,ENST00000371475,NM_001130969.1;NSMF,missense_variant,p.Cys409Phe,ENST00000265663,NM_015537.4;NSMF,missense_variant,p.Cys388Phe,ENST00000437259,NM_001130970.1;NSMF,missense_variant,p.Cys386Phe,ENST00000371474,NM_001130971.1;NSMF,missense_variant,p.Cys381Phe,ENST00000371473,NM_001178064.1;NSMF,missense_variant,p.Cys244Phe,ENST00000339554,;NSMF,missense_variant,p.Cys409Phe,ENST00000371472,;NSMF,missense_variant,p.Cys101Phe,ENST00000482448,;NSMF,upstream_gene_variant,,ENST00000611474,;NSMF,non_coding_transcript_exon_variant,,ENST00000371482,;NSMF,non_coding_transcript_exon_variant,,ENST00000484316,;NSMF,downstream_gene_variant,,ENST00000371468,;	A	ENST00000371475	Transcript	missense_variant	1464/3646	1232/1593	411/530	C/F	tGc/tTc	rs761488406	1		-1	NSMF	HGNC	HGNC:29843	protein_coding	YES	CCDS48069.1	ENSP00000360530	Q6X4W1		UPI000035198D	NM_001130969.1	deleterious(0)		12/16		hmmpanther:PTHR32061																	MODERATE	1	SNV	1			1										PASS		rs761488406	.												A	3	1	57	137452369	137452369	C	A	1	0	0	0	0	1	0	0	0	10739	724	25	2		2	NSMF	9	137452369	Missense_Mutation	SNP	C	C3N-00560_TP	386713	137452369	942348	690	18629											
CACNA1B	0	.	GRCh38	chr9	137986844	137986844	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctgccgccatcctcaCtgtcttccaggtaaggcacc	6	10	7	18	1	2	0	1	0	1	0	5	0	5	0	6	2	1	2	6	2	1	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1964C>A	p.Thr655Asn	p.T655N	ENST00000371372	15/47	328	232	96	270	270	0	strelka-varscan-mutect	CACNA1B,missense_variant,p.Thr655Asn,ENST00000371372,NM_000718.3;CACNA1B,missense_variant,p.Thr655Asn,ENST00000371363,;CACNA1B,missense_variant,p.Thr656Asn,ENST00000371355,;CACNA1B,missense_variant,p.Thr656Asn,ENST00000371357,;CACNA1B,missense_variant,p.Thr655Asn,ENST00000277549,;CACNA1B,missense_variant,p.Thr655Asn,ENST00000277551,NM_001243812.1;	A	ENST00000371372	Transcript	missense_variant	2109/9790	1964/7020	655/2339	T/N	aCt/aAt		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3	deleterious(0)		15/47		Pfam_domain:PF00520,Prints_domain:PR00167,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161,Superfamily_domains:SSF81324																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	137986844	137986844	C	A	1	0	0	0	0	1	0	0	0	2227	565	20	2		2	CACNA1B	9	137986844	Missense_Mutation	SNP	C	C3N-00560_TP	534475	137986844	407873	691	18630											
CACNA1B	0	.	GRCh38	chr9	138052123	138052123	+	Frame_Shift_Del	DEL	A	A	-																															ggaaagacatcaataccatcAagtctctgagagtccttcgt																								novel		C3N-00560_TP	C3N-00560_NB	A	A																c.3743delA	p.Lys1248SerfsTer3	p.K1248Sfs*3	ENST00000371372	25/47	207	154	53	154	154	0	sindel-varindel	CACNA1B,frameshift_variant,p.Lys1248SerfsTer3,ENST00000371372,NM_000718.3;CACNA1B,frameshift_variant,p.Lys1248SerfsTer3,ENST00000371363,;CACNA1B,frameshift_variant,p.Lys1249SerfsTer3,ENST00000371355,;CACNA1B,frameshift_variant,p.Lys1249SerfsTer3,ENST00000371357,;CACNA1B,frameshift_variant,p.Lys1248SerfsTer3,ENST00000277549,;CACNA1B,frameshift_variant,p.Lys1248SerfsTer3,ENST00000277551,NM_001243812.1;	-	ENST00000371372	Transcript	frameshift_variant	3887/9790	3742/7020	1248/2339	K/X	Aag/ag		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3			25/47		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161,Superfamily_domains:SSF81324																	HIGH	1	deletion	5	1		1										PASS		.	.												-	7	5	57	138052123	138052123	A	-	1	0	1	0	1	0	0	0	0	2227	131	5	0		0	CACNA1B	9	138052123	Frame_Shift_Del	DEL	A	C3N-00560_TP	65279	138052123	342594	692	18631	396	2									
CACNA1B	0	.	GRCh38	chr9	138052125	138052125	+	Missense_Mutation	SNP	G	G	T																															aaagacatcaataccatcaaGtctctgagagtccttcgtgt																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3744G>T	p.Lys1248Asn	p.K1248N	ENST00000371372	25/47	231	173	58	161	161	0	strelka-mutect	CACNA1B,missense_variant,p.Lys1248Asn,ENST00000371372,NM_000718.3;CACNA1B,missense_variant,p.Lys1248Asn,ENST00000371363,;CACNA1B,missense_variant,p.Lys1249Asn,ENST00000371355,;CACNA1B,missense_variant,p.Lys1249Asn,ENST00000371357,;CACNA1B,missense_variant,p.Lys1248Asn,ENST00000277549,;CACNA1B,missense_variant,p.Lys1248Asn,ENST00000277551,NM_001243812.1;	T	ENST00000371372	Transcript	missense_variant	3889/9790	3744/7020	1248/2339	K/N	aaG/aaT		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3	deleterious(0)		25/47		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161,Superfamily_domains:SSF81324																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	138052125	138052125	G	T	1	0	0	0	0	1	0	0	0	2227	1020	36	2		2	CACNA1B	9	138052125	Missense_Mutation	SNP	G	C3N-00560_TP	2	138052125	342592	693	18632	396	2									
CACNA1B	0	.	GRCh38	chr9	138120671	138120671	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggggctgcccccgggagaGgggcctacaggctgccggcg	4	3	19	15	4	0	1	0	0	0	1	0	2	0	1	5	7	3	2	5	7	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.6279G>A	p.=	p.E2093E	ENST00000371372	46/47	71	51	20	69	69	0	strelka-varscan-mutect	CACNA1B,synonymous_variant,p.=,ENST00000371372,NM_000718.3;CACNA1B,synonymous_variant,p.=,ENST00000371363,;CACNA1B,synonymous_variant,p.=,ENST00000371355,;CACNA1B,synonymous_variant,p.=,ENST00000371357,;CACNA1B,synonymous_variant,p.=,ENST00000277549,;CACNA1B,synonymous_variant,p.=,ENST00000277551,NM_001243812.1;	A	ENST00000371372	Transcript	synonymous_variant	6424/9790	6279/7020	2093/2339	E	gaG/gaA		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3			46/47		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	57	138120671	138120671	G	A	1	0	0	0	0	0	0	0	1	2227	991	35	3		3	CACNA1B	9	138120671	Silent	SNP	G	C3N-00560_TP	68546	138120671	274046	694	18633											
AKR1C3	0	.	GRCh38	chr10	5098859	5098859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtaatatttgacatagtgGatctctgtaccacctgggag	12	12	10	7	0	1	1	0	1	1	0	2	3	1	3	2	2	1	2	2	2	5	5	rs782456698		C3N-00560_TP	C3N-00560_NB	G	G																c.427G>T	p.Asp143Tyr	p.D143Y	ENST00000380554	4/9	109	76	33	132	132	0	strelka-varscan-mutect	AKR1C3,missense_variant,p.Asp143Tyr,ENST00000380554,NM_003739.5;AKR1C3,missense_variant,p.Asp120Tyr,ENST00000605149,;AKR1C3,missense_variant,p.Asp143Tyr,ENST00000439082,NM_001253908.1;AKR1C3,missense_variant,p.Asp120Tyr,ENST00000602997,;AKR1C3,non_coding_transcript_exon_variant,,ENST00000605781,;AKR1C3,downstream_gene_variant,,ENST00000470862,;AKR1C3,downstream_gene_variant,,ENST00000480822,;AKR1C3,intron_variant,,ENST00000605322,;AKR1C3,downstream_gene_variant,,ENST00000480697,;AKR1C3,downstream_gene_variant,,ENST00000603312,;	T	ENST00000380554	Transcript	missense_variant	1079/1807	427/972	143/323	D/Y	Gat/Tat	rs782456698	1		1	AKR1C3	HGNC	HGNC:386	protein_coding	YES	CCDS7063.1	ENSP00000369927	P42330		UPI0000140951	NM_003739.5	deleterious(0.01)		4/9		Gene3D:3.20.20.100,Pfam_domain:PF00248,PIRSF_domain:PIRSF000097,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF201,Superfamily_domains:SSF51430																	MODERATE	1	SNV	1			1										PASS		rs782456698	.												T	3	4	57	5098859	5098859	G	T	1	0	0	0	0	1	0	0	0	555	1174	41	2		2	AKR1C3	10	5098859	Missense_Mutation	SNP	G	C3N-00560_TP		5098859	128698563	695	18634											
ITIH5	0	.	GRCh38	chr10	7566316	7566316	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctctctggcttgttgatGaggatggtgatagtgcgcaa	8	13	14	6	1	2	3	0	3	2	0	3	5	2	4	0	3	1	3	0	3	2	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2241C>A	p.=	p.L747L	ENST00000397146	13/14	156	108	48	140	140	0	strelka-varscan-mutect	ITIH5,synonymous_variant,p.=,ENST00000397146,NM_030569.6;ITIH5,synonymous_variant,p.=,ENST00000613909,NM_032817.5;ITIH5,non_coding_transcript_exon_variant,,ENST00000473591,;ITIH5,downstream_gene_variant,,ENST00000492668,;	T	ENST00000397146	Transcript	synonymous_variant	2320/6721	2241/2829	747/942	L	ctC/ctA		1		-1	ITIH5	HGNC	HGNC:21449	protein_coding	YES		ENSP00000380333		C9J2H1	UPI000014D02E	NM_030569.6			13/14		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF62,Pfam_domain:PF06668																	LOW	1	SNV	1			1										PASS		rs1183933551	.												T	2	4	57	7566316	7566316	G	T	1	0	0	0	0	0	0	0	1	7813	1277	45	2		2	ITIH5	10	7566316	Silent	SNP	G	C3N-00560_TP	2467457	7566316	126231106	696	18635											
ITIH5	0	.	GRCh38	chr10	7576708	7576708	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaggtagctccagagacGctcgatgtggttggtgtccc	6	10	16	9	2	0	2	0	1	0	1	3	4	2	2	2	4	1	4	2	4	1	2	rs377411908		C3N-00560_TP	C3N-00560_NB	G	G																c.1723C>G	p.Arg575Gly	p.R575G	ENST00000397146	10/14	253	190	63	250	250	0	strelka-varscan-mutect	ITIH5,missense_variant,p.Arg575Gly,ENST00000397146,NM_030569.6;ITIH5,missense_variant,p.Arg575Gly,ENST00000397145,NM_001001851.2;ITIH5,missense_variant,p.Arg361Gly,ENST00000613909,NM_032817.5;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;ITIH5,non_coding_transcript_exon_variant,,ENST00000476417,;ITIH5,non_coding_transcript_exon_variant,,ENST00000468389,;ITIH5,downstream_gene_variant,,ENST00000461751,;ITIH5,upstream_gene_variant,,ENST00000492668,;	C	ENST00000397146	Transcript	missense_variant	1802/6721	1723/2829	575/942	R/G	Cgt/Ggt	rs377411908	1		-1	ITIH5	HGNC	HGNC:21449	protein_coding	YES		ENSP00000380333		C9J2H1	UPI000014D02E	NM_030569.6	deleterious(0)		10/14		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF62																	MODERATE	1	SNV	1			1										PASS		rs377411908	.												C	3	2	57	7576708	7576708	G	C	1	0	0	0	0	1	0	0	0	7813	1087	38	4		4	ITIH5	10	7576708	Missense_Mutation	SNP	G	C3N-00560_TP	10392	7576708	126220714	697	18636											
CAMK1D	0	.	GRCh38	chr10	12825691	12825691	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggccagccaaaaagactGtgcgtatgtagcaaaaccag	14	8	10	9	1	0	1	0	0	0	1	0	1	0	1	3	1	4	3	3	1	6	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1039+1G>C		p.X347_splice	ENST00000619168		187	147	40	170	170	0	strelka-varscan-mutect	CAMK1D,splice_donor_variant,,ENST00000619168,NM_153498.3;CAMK1D,splice_donor_variant,,ENST00000615792,;CAMK1D,missense_variant,p.Cys347Ser,ENST00000378845,NM_020397.3;	C	ENST00000619168	Transcript	splice_donor_variant	-/8153	1039/1158	347/385				1		1	CAMK1D	HGNC	HGNC:19341	protein_coding	YES	CCDS7091.1	ENSP00000478874	Q8IU85		UPI000003CA33	NM_153498.3				10/10																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	57	12825691	12825691	G	C	1	0	0	0	0	0	0	1	0	2288	1391	48	4		4	CAMK1D	10	12825691	Splice_Site	SNP	G	C3N-00560_TP	5248983	12825691	120971731	698	18637											
PHYH	0	.	GRCh38	chr10	13283782	13283782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctccatcaccaggtgcaCccgggccttgttttcctcgt	4	13	8	16	2	2	0	1	0	1	0	5	0	3	0	5	2	1	2	5	2	0	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.736G>T	p.Val246Leu	p.V246L	ENST00000263038	7/9	575	476	99	538	538	0	strelka-varscan-mutect	PHYH,missense_variant,p.Val229Leu,ENST00000396920,;PHYH,missense_variant,p.Val146Leu,ENST00000396913,NM_001323084.1,NM_001037537.1;PHYH,missense_variant,p.Val246Leu,ENST00000263038,NM_001323082.1,NM_006214.3;PHYH,missense_variant,p.Val146Leu,ENST00000453759,;PHYH,downstream_gene_variant,,ENST00000479604,;	A	ENST00000263038	Transcript	missense_variant	795/1577	736/1017	246/338	V/L	Gtg/Ttg		1		-1	PHYH	HGNC	HGNC:8940	protein_coding	YES	CCDS7097.1	ENSP00000263038	O14832		UPI0000131215	NM_001323082.1,NM_006214.3	deleterious(0.03)		7/9		hmmpanther:PTHR21308:SF1,hmmpanther:PTHR21308,Gene3D:2.60.120.620,Pfam_domain:PF05721,Superfamily_domains:SSF51197																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	13283782	13283782	C	A	1	0	0	0	0	1	0	0	0	11952	507	18	2		2	PHYH	10	13283782	Missense_Mutation	SNP	C	C3N-00560_TP	458091	13283782	120513640	699	18638											
C1QL3	0	.	GRCh38	chr10	16520860	16520860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcgcggacccgccttcccgGgcctgccggcctcgcctttg	1	7	13	20	7	0	0	0	0	0	0	2	1	1	1	7	3	1	0	7	3	0	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.206C>A	p.Pro69His	p.P69H	ENST00000298943	1/2	78	50	28	80	80	0	strelka-varscan-mutect	C1QL3,missense_variant,p.Pro69His,ENST00000298943,NM_001010908.1;C1QL3,intron_variant,,ENST00000619991,;	T	ENST00000298943	Transcript	missense_variant	1146/2493	206/768	69/255	P/H	cCc/cAc		1		-1	C1QL3	HGNC	HGNC:19359	protein_coding	YES	CCDS31156.1	ENSP00000298943	Q5VWW1		UPI000013E53F	NM_001010908.1	tolerated(0.07)		1/2		Low_complexity_(Seg):seg,Pfam_domain:PF01391																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	16520860	16520860	G	T	1	0	0	0	0	1	0	0	0	1938	1232	43	2		2	C1QL3	10	16520860	Missense_Mutation	SNP	G	C3N-00560_TP	3237078	16520860	117276562	700	18639											
CUBN	0	.	GRCh38	chr10	16903984	16903984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgtaaaggaatactttgCatggaatccaatgtgttcta	13	13	8	7	0	1	0	0	0	1	0	2	2	2	2	2	2	2	3	2	2	7	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.8044G>C	p.Ala2682Pro	p.A2682P	ENST00000377833	51/67	226	143	83	264	264	0	strelka-varscan-mutect	CUBN,missense_variant,p.Ala2682Pro,ENST00000377833,NM_001081.3;	G	ENST00000377833	Transcript	missense_variant	8110/11949	8044/10872	2682/3623	A/P	Gca/Cca		1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3	deleterious(0.01)		51/67		PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	16903984	16903984	C	G	1	0	0	0	0	1	0	0	0	3861	710	25	4		4	CUBN	10	16903984	Missense_Mutation	SNP	C	C3N-00560_TP	383124	16903984	116893438	701	18640											
CUBN	0	.	GRCh38	chr10	16940184	16940184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccgtggcatttccttcaCggatctccacaaaatctctg	9	11	7	14	2	3	0	1	0	2	0	6	2	4	1	3	2	0	1	3	2	2	2	rs758077332		C3N-00560_TP	C3N-00560_NB	C	C																c.5396G>T	p.Arg1799Leu	p.R1799L	ENST00000377833	37/67	296	199	97	293	293	0	strelka-varscan-mutect	CUBN,missense_variant,p.Arg1799Leu,ENST00000377833,NM_001081.3;	A	ENST00000377833	Transcript	missense_variant	5462/11949	5396/10872	1799/3623	R/L	cGt/cTt	rs758077332	1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3	deleterious(0.02)		37/67		PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF645,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		rs758077332	.												A	3	1	57	16940184	16940184	C	A	1	0	0	0	0	1	0	0	0	3861	536	19	1		1	CUBN	10	16940184	Missense_Mutation	SNP	C	C3N-00560_TP	36200	16940184	116857238	702	18641											
SLC39A12	0	.	GRCh38	chr10	17953313	17953313	+	Missense_Mutation	SNP	C	C	A																															agctctcagtatcctgggtgCcattgtttcttctactcagc																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.37C>A	p.Pro13Thr	p.P13T	ENST00000377369	2/13	176	150	26	162	161	1	strelka-varscan-mutect	SLC39A12,missense_variant,p.Pro13Thr,ENST00000377369,NM_001145195.1;SLC39A12,missense_variant,p.Pro13Thr,ENST00000377371,NM_001282733.1;SLC39A12,missense_variant,p.Pro13Thr,ENST00000377374,NM_152725.3;SLC39A12,intron_variant,,ENST00000539911,NM_001282734.1;	A	ENST00000377369	Transcript	missense_variant	310/2808	37/2076	13/691	P/T	Cca/Aca		1		1	SLC39A12	HGNC	HGNC:20860	protein_coding	YES	CCDS44362.1	ENSP00000366586	Q504Y0		UPI00004044FC	NM_001145195.1	tolerated(0.36)		2/13		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191																	MODERATE	1	SNV	1			1										PASS		rs1404202082	.												A	3	1	57	17953313	17953313	C	A	1	0	0	0	0	1	0	0	0	14893	739	26	2		2	SLC39A12	10	17953313	Missense_Mutation	SNP	C	C3N-00560_TP	1013129	17953313	115844109	703	18642	397	2									
SLC39A12	0	.	GRCh38	chr10	17953314	17953314	+	Missense_Mutation	SNP	C	C	A																															gctctcagtatcctgggtgcCattgtttcttctactcagcc																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.38C>A	p.Pro13Gln	p.P13Q	ENST00000377369	2/13	176	148	28	165	165	0	strelka-varscan-mutect	SLC39A12,missense_variant,p.Pro13Gln,ENST00000377369,NM_001145195.1;SLC39A12,missense_variant,p.Pro13Gln,ENST00000377371,NM_001282733.1;SLC39A12,missense_variant,p.Pro13Gln,ENST00000377374,NM_152725.3;SLC39A12,intron_variant,,ENST00000539911,NM_001282734.1;	A	ENST00000377369	Transcript	missense_variant	311/2808	38/2076	13/691	P/Q	cCa/cAa		1		1	SLC39A12	HGNC	HGNC:20860	protein_coding	YES	CCDS44362.1	ENSP00000366586	Q504Y0		UPI00004044FC	NM_001145195.1	tolerated(0.36)		2/13		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	17953314	17953314	C	A	1	0	0	0	0	1	0	0	0	14893	594	21	2		2	SLC39A12	10	17953314	Missense_Mutation	SNP	C	C3N-00560_TP	1	17953314	115844108	704	18643	397	2									
SLC39A12	0	.	GRCh38	chr10	17977915	17977915	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctagaactagaccaactCctcaacactctctggaccag	12	10	5	14	0	3	2	1	0	2	2	5	3	4	3	3	1	3	0	3	1	5	3	rs543733651		C3N-00560_TP	C3N-00560_NB	C	C																c.765C>A	p.=	p.L255L	ENST00000377369	5/13	34	24	10	31	31	0	strelka-varscan-mutect	SLC39A12,synonymous_variant,p.=,ENST00000377369,NM_001145195.1;SLC39A12,synonymous_variant,p.=,ENST00000377371,NM_001282733.1;SLC39A12,synonymous_variant,p.=,ENST00000377374,NM_152725.3;SLC39A12,synonymous_variant,p.=,ENST00000539911,NM_001282734.1;	A	ENST00000377369	Transcript	synonymous_variant	1038/2808	765/2076	255/691	L	ctC/ctA	rs543733651	1		1	SLC39A12	HGNC	HGNC:20860	protein_coding	YES	CCDS44362.1	ENSP00000366586	Q504Y0		UPI00004044FC	NM_001145195.1			5/13		hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191																	LOW	1	SNV	1			1										PASS		rs543733651	.												A	2	1	57	17977915	17977915	C	A	1	0	0	0	0	0	0	0	1	14893	842	30	2		2	SLC39A12	10	17977915	Silent	SNP	C	C3N-00560_TP	24601	17977915	115819507	705	18644											
PLXDC2	0	.	GRCh38	chr10	20001842	20001842	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggaagttgattcacacgcGtacagccacaggtggaaaag	13	7	13	8	2	1	1	1	1	0	0	1	3	1	3	1	3	2	2	1	3	4	3	rs149037714		C3N-00560_TP	C3N-00560_NB	G	G																c.180G>T	p.=	p.A60A	ENST00000377252	2/14	356	238	118	420	419	1	strelka-varscan-mutect	PLXDC2,synonymous_variant,p.=,ENST00000377252,NM_032812.8;PLXDC2,synonymous_variant,p.=,ENST00000377242,NM_001282736.1;	T	ENST00000377252	Transcript	synonymous_variant	1021/12468	180/1590	60/529	A	gcG/gcT	rs149037714,COSM4013250	1		1	PLXDC2	HGNC	HGNC:21013	protein_coding	YES	CCDS7132.1	ENSP00000366460	Q6UX71		UPI0000048F2C	NM_032812.8			2/14		hmmpanther:PTHR13055:SF11,hmmpanther:PTHR13055											0,1						LOW	1	SNV	1		0,1	1										PASS		rs149037714	.												T	2	4	57	20001842	20001842	G	T	1	0	0	0	0	0	0	0	1	12224	1132	40	1		1	PLXDC2	10	20001842	Silent	SNP	G	C3N-00560_TP	2023927	20001842	113795580	706	18645											
SKIDA1	0	.	GRCh38	chr10	21517271	21517271	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtttgcacggcgagcgcacGatctccgggtagtgcgagcc	6	7	16	12	6	1	0	0	0	1	0	2	3	1	0	2	3	4	4	2	3	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.552C>G	p.Ile184Met	p.I184M	ENST00000449193	4/4	125	76	49	130	130	0	strelka-varscan-mutect	SKIDA1,missense_variant,p.Ile184Met,ENST00000449193,NM_207371.3;SKIDA1,missense_variant,p.Ile184Met,ENST00000444772,;SKIDA1,downstream_gene_variant,,ENST00000633225,;SKIDA1,downstream_gene_variant,,ENST00000487107,;	C	ENST00000449193	Transcript	missense_variant	2805/6598	552/2727	184/908	I/M	atC/atG		1		-1	SKIDA1	HGNC	HGNC:32697	protein_coding	YES	CCDS44363.1	ENSP00000410041		E9PAX1	UPI00015386B3	NM_207371.3	tolerated(0.12)		4/4		hmmpanther:PTHR23187:SF2,hmmpanther:PTHR23187																	MODERATE	1	SNV	3			1										PASS		.	.												C	3	2	57	21517271	21517271	G	C	1	0	0	0	0	1	0	0	0	14620	1048	37	4		4	SKIDA1	10	21517271	Missense_Mutation	SNP	G	C3N-00560_TP	1515429	21517271	112280151	707	18646											
PTF1A	0	.	GRCh38	chr10	23192722	23192722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgagtactgctaccgcgaCggggcgtgcctgctgctgca	6	7	14	14	5	0	0	0	0	0	0	0	2	0	0	2	2	7	5	2	2	2	2	rs749956400		C3N-00560_TP	C3N-00560_NB	C	C																c.192C>A	p.Asp64Glu	p.D64E	ENST00000376504	1/2	121	99	22	104	104	0	strelka-varscan-mutect	PTF1A,missense_variant,p.Asp64Glu,ENST00000376504,NM_178161.2;	A	ENST00000376504	Transcript	missense_variant	396/1537	192/987	64/328	D/E	gaC/gaA	rs749956400	1		1	PTF1A	HGNC	HGNC:23734	protein_coding	YES	CCDS7143.1	ENSP00000365687	Q7RTS3		UPI000018F612	NM_178161.2	tolerated_low_confidence(0.18)		1/2		hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF59																	MODERATE	1	SNV	2			1										PASS		rs749956400	.												A	3	1	57	23192722	23192722	C	A	1	0	0	0	0	1	0	0	0	12893	535	19	1		1	PTF1A	10	23192722	Missense_Mutation	SNP	C	C3N-00560_TP	1675451	23192722	110604700	708	18647											
KIAA1217	0	.	GRCh38	chr10	24474002	24474002	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagacctcggccctcctctaAtggagaagcaagtttttgcc	9	11	9	12	1	1	2	0	0	1	2	3	3	2	2	4	2	2	2	4	2	4	4	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1621A>T	p.Met541Leu	p.M541L	ENST00000376454	6/21	133	81	52	112	112	0	strelka-varscan-mutect	KIAA1217,missense_variant,p.Met259Leu,ENST00000376451,;KIAA1217,missense_variant,p.Met541Leu,ENST00000376454,NM_019590.4;KIAA1217,missense_variant,p.Met461Leu,ENST00000376462,NM_001098500.2;KIAA1217,missense_variant,p.Met541Leu,ENST00000376452,NM_001282767.1;KIAA1217,missense_variant,p.Met541Leu,ENST00000458595,NM_001282768.1;KIAA1217,missense_variant,p.Met461Leu,ENST00000430453,;KIAA1217,missense_variant,p.Met259Leu,ENST00000396445,;KIAA1217,missense_variant,p.Met259Leu,ENST00000307544,NM_001282769.1;KIAA1217,missense_variant,p.Met541Leu,ENST00000376456,;KIAA1217,missense_variant,p.Met259Leu,ENST00000396446,NM_001282770.1;KIAA1217,missense_variant,p.Met391Leu,ENST00000438429,;	T	ENST00000376454	Transcript	missense_variant	1651/7381	1621/5832	541/1943	M/L	Atg/Ttg		1		1	KIAA1217	HGNC	HGNC:25428	protein_coding	YES	CCDS31165.1	ENSP00000365637	Q5T5P2		UPI000013EC2A	NM_019590.4	tolerated(0.82)		6/21		hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	24474002	24474002	A	T	1	0	0	0	0	1	0	0	0	8109	101	4	4		4	KIAA1217	10	24474002	Missense_Mutation	SNP	A	C3N-00560_TP	1281280	24474002	109323420	709	18648											
GPR158	0	.	GRCh38	chr10	25596775	25596775	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggagtgagcacagcttggatCcagaggacattcgggtaatg	11	8	15	7	1	0	2	0	1	0	1	2	5	1	5	1	4	2	3	1	4	1	3			C3N-00560_TP	C3N-00560_NB	C	C																c.2131C>G	p.Pro711Ala	p.P711A	ENST00000376351	10/11	139	108	31	102	102	0	strelka-varscan-mutect	GPR158,missense_variant,p.Pro711Ala,ENST00000376351,NM_020752.2;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	G	ENST00000376351	Transcript	missense_variant	2490/6959	2131/3648	711/1215	P/A	Cca/Gca	COSM230654	1		1	GPR158	HGNC	HGNC:23689	protein_coding	YES	CCDS31166.1	ENSP00000365529	Q5T848		UPI0000199875	NM_020752.2	deleterious(0)		10/11		hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	57	25596775	25596775	C	G	1	0	0	0	0	1	0	0	0	6549	855	30	4		4	GPR158	10	25596775	Missense_Mutation	SNP	C	C3N-00560_TP	1122773	25596775	108200647	710	18649											
LYZL2	0	.	GRCh38	chr10	30612821	30612821	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttccaaggaaagactcttaCcaatagttcattccttgtgt	11	14	6	10	0	2	1	1	0	1	1	4	2	4	2	3	1	1	1	3	1	5	6	rs753953857		C3N-00560_TP	C3N-00560_NB	C	C																c.515+1G>A		p.X172_splice	ENST00000375318		117	94	23	98	98	0	strelka-varscan-mutect	LYZL2,splice_donor_variant,,ENST00000375318,NM_183058.2;	T	ENST00000375318	Transcript	splice_donor_variant	-/818	515/585	172/194			rs753953857	1		-1	LYZL2	HGNC	HGNC:29613	protein_coding	YES	CCDS7167.2	ENSP00000364467	Q7Z4W2	A0A080YUZ9	UPI0000160E06	NM_183058.2				4/4																		HIGH	1	SNV	1			1										PASS		rs753953857	.												T	5	4	57	30612821	30612821	C	T	1	0	0	0	0	0	0	1	0	9045	521	18	3		3	LYZL2	10	30612821	Splice_Site	SNP	C	C3N-00560_TP	5016046	30612821	103184601	711	18650											
PARD3	0	.	GRCh38	chr10	34377988	34377988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctataagtctgtctcctgcCttaagtcggccatcctgaat	8	14	7	12	1	3	1	0	1	3	0	6	1	4	1	4	1	1	0	4	1	4	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1518G>C	p.Lys506Asn	p.K506N	ENST00000374789	10/25	116	78	38	89	89	0	strelka-varscan-mutect	PARD3,missense_variant,p.Lys506Asn,ENST00000374789,NM_019619.3;PARD3,missense_variant,p.Lys506Asn,ENST00000374788,NM_001184785.1;PARD3,missense_variant,p.Lys506Asn,ENST00000545693,NM_001184786.1;PARD3,missense_variant,p.Lys506Asn,ENST00000346874,NM_001184787.1;PARD3,missense_variant,p.Lys506Asn,ENST00000350537,NM_001184789.1,NM_001184788.1;PARD3,missense_variant,p.Lys462Asn,ENST00000374790,;PARD3,missense_variant,p.Lys462Asn,ENST00000545260,NM_001184790.1;PARD3,missense_variant,p.Lys462Asn,ENST00000374794,NM_001184791.1;PARD3,missense_variant,p.Lys506Asn,ENST00000340077,NM_001184792.1;PARD3,missense_variant,p.Lys506Asn,ENST00000374773,NM_001184793.1;PARD3,missense_variant,p.Lys506Asn,ENST00000374776,NM_001184794.1;PARD3,missense_variant,p.Lys236Asn,ENST00000544292,;	G	ENST00000374789	Transcript	missense_variant	1844/6005	1518/4071	506/1356	K/N	aaG/aaC		1		-1	PARD3	HGNC	HGNC:16051	protein_coding	YES	CCDS7178.1	ENSP00000363921	Q8TEW0		UPI0000073A9F	NM_019619.3	deleterious(0)		10/25		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR16484,hmmpanther:PTHR16484:SF10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	34377988	34377988	C	G	1	0	0	0	0	1	0	0	0	11523	680	24	4		4	PARD3	10	34377988	Missense_Mutation	SNP	C	C3N-00560_TP	3765167	34377988	99419434	712	18651											
AGAP14P	0	.	GRCh38	chr10	46358456	46358456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgctgatgaggacctgcaGacagccatcctgctgctggc	8	7	12	14	1	0	3	0	2	0	1	1	4	1	4	4	2	4	4	4	2	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1800G>C	p.Gln600His	p.Q600H	ENST00000624701	9/9	485	391	94	453	453	0	strelka-varscan-mutect	AGAP14P,missense_variant,p.Gln600His,ENST00000624701,;	C	ENST00000624701	Transcript	missense_variant	1800/2058	1800/2058	600/685	Q/H	caG/caC		1		1	AGAP14P	HGNC	HGNC:23660	protein_coding	YES		ENSP00000485140		A0A096LNP0	UPI000514C5BF		tolerated(0.05)		9/9		PROSITE_profiles:PS50297,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF213,Pfam_domain:PF12796,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	57	46358456	46358456	G	C	1	0	0	0	0	1	0	0	0	444	933	33	4		4	AGAP14P	10	46358456	Missense_Mutation	SNP	G	C3N-00560_TP	11980468	46358456	87438966	713	18652											
GDF2	0	.	GRCh38	chr10	47325415	47325415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggacacggatggccaCgtggctgcggggtcgacttt	7	7	18	9	4	0	0	0	0	0	0	1	5	0	3	1	7	1	1	1	7	0	1	rs368331513		C3N-00560_TP	C3N-00560_NB	C	C																c.921C>G	p.His307Gln	p.H307Q	ENST00000581492	2/2	200	127	73	195	195	0	strelka-varscan-mutect	GDF2,missense_variant,p.His307Gln,ENST00000581492,NM_016204.2;	G	ENST00000581492	Transcript	missense_variant	1100/1955	921/1290	307/429	H/Q	caC/caG	rs368331513	1		1	GDF2	HGNC	HGNC:4217	protein_coding	YES	CCDS73118.1	ENSP00000463051	Q9UK05		UPI000012B394	NM_016204.2	tolerated(0.3)		2/2																			MODERATE	1	SNV	1			1										PASS		rs368331513	.												G	3	3	57	47325415	47325415	C	G	1	0	0	0	0	1	0	0	0	6186	535	19	4		4	GDF2	10	47325415	Missense_Mutation	SNP	C	C3N-00560_TP	966959	47325415	86472007	714	18653											
ZNF488	0	.	GRCh38	chr10	47367920	47367920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagaatgtgggtcaggccCcgcatgctcctttttgtggt	5	13	13	10	1	1	1	1	1	0	1	2	2	2	1	3	3	1	2	3	3	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.910G>T	p.Gly304Trp	p.G304W	ENST00000585316	2/2	275	225	50	305	305	0	strelka-varscan-mutect	ZNF488,missense_variant,p.Gly304Trp,ENST00000585316,NM_153034.2;ZNF488,missense_variant,p.Gly197Trp,ENST00000591025,;	A	ENST00000585316	Transcript	missense_variant	1072/3496	910/1023	304/340	G/W	Ggg/Tgg		1		-1	ZNF488	HGNC	HGNC:23535	protein_coding	YES	CCDS73120.1	ENSP00000462269	Q96MN9		UPI00000736CF	NM_153034.2	deleterious(0)		2/2		PROSITE_profiles:PS50157,hmmpanther:PTHR16516:SF5,hmmpanther:PTHR16516,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	47367920	47367920	C	A	1	0	0	0	0	1	0	0	0	18513	623	22	2		2	ZNF488	10	47367920	Missense_Mutation	SNP	C	C3N-00560_TP	42505	47367920	86429502	715	18654											
AGAP9	0	.	GRCh38	chr10	47503072	47503072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttagagctggagatgggtgCacaggctgatgtggctaggg	8	10	18	5	0	0	3	0	1	0	2	0	4	0	3	0	5	2	4	0	5	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1057G>A	p.Ala353Thr	p.A353T	ENST00000452145	8/8	1242	1146	96	1246	1246	0	varscan-mutect	AGAP9,missense_variant,p.Ala353Thr,ENST00000452145,NM_001190810.1;RP11-144G6.4,downstream_gene_variant,,ENST00000434533,;	T	ENST00000452145	Transcript	missense_variant	1169/2387	1057/1977	353/658	A/T	Gca/Aca		1		-1	AGAP9	HGNC	HGNC:23463	protein_coding	YES	CCDS73125.1	ENSP00000392206	Q5VTM2		UPI000019733B	NM_001190810.1	tolerated(0.14)		8/8		PROSITE_profiles:PS50003,SMART_domains:SM00233																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	47503072	47503072	C	T	1	0	0	0	0	1	0	0	0	450	710	25	3		3	AGAP9	10	47503072	Missense_Mutation	SNP	C	C3N-00560_TP	135152	47503072	86294350	716	18655											
FRMPD2	0	.	GRCh38	chr10	48251609	48251609	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctcagcggccaggaacagGagggaccagatttcctcctc	9	7	12	13	1	1	1	1	0	0	1	4	4	3	4	4	4	3	1	4	4	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.108C>A	p.=	p.L36L	ENST00000374201	2/29	200	159	41	167	167	0	strelka-varscan-mutect	FRMPD2,synonymous_variant,p.=,ENST00000374201,NM_001018071.3;FRMPD2,synonymous_variant,p.=,ENST00000305531,NM_001318191.1;FRMPD2,synonymous_variant,p.=,ENST00000636244,;FRMPD2,synonymous_variant,p.=,ENST00000637395,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000486151,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000492045,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000468556,;	T	ENST00000374201	Transcript	synonymous_variant	411/4997	108/3930	36/1309	L	ctC/ctA		1		-1	FRMPD2	HGNC	HGNC:28572	protein_coding	YES	CCDS31195.1	ENSP00000363317	Q68DX3		UPI0000D60F5F	NM_001018071.3			2/29		PROSITE_profiles:PS51377,hmmpanther:PTHR19964:SF42,hmmpanther:PTHR19964,SMART_domains:SM00750																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	48251609	48251609	G	T	1	0	0	0	0	0	0	0	1	5928	1161	41	2		2	FRMPD2	10	48251609	Silent	SNP	G	C3N-00560_TP	748537	48251609	85545813	717	18656											
WDFY4	0	.	GRCh38	chr10	48974987	48974987	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccacctcacccacgtgacCcgcctgcccgcccatcggga	7	4	9	21	4	1	1	1	1	0	0	2	3	1	2	7	1	1	0	7	1	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.9054C>A	p.=	p.T3018T	ENST00000325239	57/61	317	217	100	289	289	0	strelka-varscan-mutect	WDFY4,synonymous_variant,p.=,ENST00000325239,NM_020945.1;WDFY4,synonymous_variant,p.=,ENST00000265453,;RP11-523O18.5,downstream_gene_variant,,ENST00000428825,;WDFY4,non_coding_transcript_exon_variant,,ENST00000465910,;WDFY4,non_coding_transcript_exon_variant,,ENST00000497480,;WDFY4,upstream_gene_variant,,ENST00000490507,;RP11-523O18.5,downstream_gene_variant,,ENST00000610464,;	A	ENST00000325239	Transcript	synonymous_variant	9054/9555	9054/9555	3018/3184	T	acC/acA		1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1			57/61		Gene3D:2.130.10.10,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	5			1										PASS		rs1393133594	.												A	2	1	57	48974987	48974987	C	A	1	0	0	0	0	0	0	0	1	17831	610	22	2		2	WDFY4	10	48974987	Silent	SNP	C	C3N-00560_TP	723378	48974987	84822435	718	18657											
C10orf71	0	.	GRCh38	chr10	49323392	49323392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgagtcatggaatgccCaccaaccaaagctgctggag	11	9	10	11	0	1	1	1	1	0	0	1	3	1	3	3	2	4	2	3	2	3	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.847C>A	p.His283Asn	p.H283N	ENST00000374144	3/3	256	173	83	288	288	0	strelka-varscan-mutect	C10orf71,missense_variant,p.His283Asn,ENST00000374144,NM_001135196.1;	A	ENST00000374144	Transcript	missense_variant	1135/5230	847/4308	283/1435	H/N	Cac/Aac		1		1	C10orf71	HGNC	HGNC:26973	protein_coding	YES	CCDS44387.1	ENSP00000363259	Q711Q0		UPI0000161572	NM_001135196.1	deleterious(0.01)		3/3		hmmpanther:PTHR33775																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	49323392	49323392	C	A	1	0	0	0	0	1	0	0	0	1769	594	21	2		2	C10orf71	10	49323392	Missense_Mutation	SNP	C	C3N-00560_TP	348405	49323392	84474030	719	18658											
CHAT	0	.	GRCh38	chr10	49616549	49616549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcaccaagacgcccatcCtggaaaaggtcccccgtaag	12	5	9	15	2	1	1	1	0	0	1	3	3	3	2	5	2	0	1	5	2	4	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.334C>T	p.=	p.L112L	ENST00000337653	2/15	543	434	109	530	530	0	strelka-varscan-mutect	CHAT,synonymous_variant,p.=,ENST00000395562,NM_001142933.1;CHAT,synonymous_variant,p.=,ENST00000337653,NM_020549.4;CHAT,5_prime_UTR_variant,,ENST00000351556,NM_020985.3,NM_001142934.1,NM_001142929.1;CHAT,5_prime_UTR_variant,,ENST00000339797,NM_020984.3;CHAT,5_prime_UTR_variant,,ENST00000395559,NM_020986.3;SLC18A3,downstream_gene_variant,,ENST00000374115,NM_003055.2;CHAT,non_coding_transcript_exon_variant,,ENST00000460699,;CHAT,non_coding_transcript_exon_variant,,ENST00000490270,;CHAT,non_coding_transcript_exon_variant,,ENST00000481336,;CHAT,3_prime_UTR_variant,,ENST00000466590,;	T	ENST00000337653	Transcript	synonymous_variant	487/2458	334/2247	112/748	L	Ctg/Ttg		1		1	CHAT	HGNC	HGNC:1912	protein_coding	YES	CCDS7232.1	ENSP00000337103	P28329		UPI000013F1B9	NM_020549.4			2/15		hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF14																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	49616549	49616549	C	T	1	0	0	0	0	0	0	0	1	3073	680	24	3		3	CHAT	10	49616549	Silent	SNP	C	C3N-00560_TP	293157	49616549	84180873	720	18659											
CHAT	0	.	GRCh38	chr10	49646597	49646597	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggagctcagcgacaccCacagggcactccagctcctt	8	6	11	16	2	1	0	1	0	0	0	3	2	3	1	3	2	3	3	3	2	0	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1204C>A	p.His402Asn	p.H402N	ENST00000337653	8/15	227	193	34	231	231	0	strelka-varscan-mutect	CHAT,missense_variant,p.His320Asn,ENST00000395562,NM_001142933.1;CHAT,missense_variant,p.His402Asn,ENST00000337653,NM_020549.4;CHAT,missense_variant,p.His284Asn,ENST00000351556,NM_020985.3,NM_001142934.1,NM_001142929.1;CHAT,missense_variant,p.His284Asn,ENST00000339797,NM_020984.3;CHAT,missense_variant,p.His284Asn,ENST00000395559,NM_020986.3;CHAT,3_prime_UTR_variant,,ENST00000466590,;	A	ENST00000337653	Transcript	missense_variant	1357/2458	1204/2247	402/748	H/N	Cac/Aac		1		1	CHAT	HGNC	HGNC:1912	protein_coding	YES	CCDS7232.1	ENSP00000337103	P28329		UPI000013F1B9	NM_020549.4	tolerated(1)		8/15		Pfam_domain:PF00755,hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF14,Superfamily_domains:SSF52777																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	49646597	49646597	C	A	1	0	0	0	0	1	0	0	0	3073	594	21	2		2	CHAT	10	49646597	Missense_Mutation	SNP	C	C3N-00560_TP	30048	49646597	84150825	721	18660											
CHAT	0	.	GRCh38	chr10	49655128	49655128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgcccacctacgagagCgcgtccatccgccgattcca	7	7	10	17	5	0	1	0	0	0	1	3	3	3	1	6	1	3	0	6	1	1	2	rs55702495		C3N-00560_TP	C3N-00560_NB	C	C																c.1668C>A	p.Ser556Arg	p.S556R	ENST00000337653	12/15	468	378	90	425	424	1	strelka-varscan-mutect	CHAT,missense_variant,p.Ser474Arg,ENST00000395562,NM_001142933.1;CHAT,missense_variant,p.Ser556Arg,ENST00000337653,NM_020549.4;CHAT,missense_variant,p.Ser438Arg,ENST00000351556,NM_020985.3,NM_001142934.1,NM_001142929.1;CHAT,missense_variant,p.Ser438Arg,ENST00000339797,NM_020984.3;CHAT,missense_variant,p.Ser438Arg,ENST00000395559,NM_020986.3;CHAT,3_prime_UTR_variant,,ENST00000466590,;	A	ENST00000337653	Transcript	missense_variant	1821/2458	1668/2247	556/748	S/R	agC/agA	rs55702495,COSM1348109,COSM5161564,COSM5292476,COSM5292477	1		1	CHAT	HGNC	HGNC:1912	protein_coding	YES	CCDS7232.1	ENSP00000337103	P28329		UPI000013F1B9	NM_020549.4	deleterious(0.01)		12/15		Pfam_domain:PF00755,hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF14,Superfamily_domains:SSF52777											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs55702495	.												A	3	1	57	49655128	49655128	C	A	1	0	0	0	0	1	0	0	0	3073	767	27	1		1	CHAT	10	49655128	Missense_Mutation	SNP	C	C3N-00560_TP	8531	49655128	84142294	722	18661											
FAM21A	0	.	GRCh38	chr10	50119737	50119737	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaatggaagatcaaaacAttatccaggctccacagaaa	20	7	6	8	0	1	2	1	0	0	2	3	3	3	3	2	2	1	1	2	2	7	2	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.2446A>T	p.Ile816Phe	p.I816F	ENST00000282633	23/31	146	122	24	197	197	0	strelka-varscan-mutect	FAM21A,missense_variant,p.Ile816Phe,ENST00000351071,NM_001291398.1;FAM21A,missense_variant,p.Ile816Phe,ENST00000314664,;FAM21A,missense_variant,p.Ile741Phe,ENST00000611324,;FAM21A,missense_variant,p.Ile728Phe,ENST00000399339,;FAM21A,missense_variant,p.Ile816Phe,ENST00000282633,NM_001005751.2;FAM21A,missense_variant,p.Ile30Phe,ENST00000454806,;FAM21A,3_prime_UTR_variant,,ENST00000434114,;	T	ENST00000282633	Transcript	missense_variant	2491/4272	2446/4026	816/1341	I/F	Att/Ttt		1		1	FAM21A	HGNC	HGNC:23416	protein_coding	YES	CCDS41527.1	ENSP00000282633	Q641Q2		UPI000044FEAB	NM_001005751.2	deleterious(0.04)		23/31		hmmpanther:PTHR21669,hmmpanther:PTHR21669:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	50119737	50119737	A	T	1	0	0	0	0	1	0	0	0	5411	217	8	4		4	FAM21A	10	50119737	Missense_Mutation	SNP	A	C3N-00560_TP	464609	50119737	83677685	723	18662											
ASAH2	0	.	GRCh38	chr10	50245252	50245252	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctacttgtcctgtgcaGtcagctcgtccaacaccaat	8	12	7	14	1	2	0	1	0	1	0	5	0	4	0	3	0	5	3	3	0	3	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.330C>A	p.Asp110Glu	p.D110E	ENST00000395526	2/20	280	219	61	297	297	0	strelka-varscan-mutect	ASAH2,missense_variant,p.Asp110Glu,ENST00000395526,NM_019893.2;ASAH2,missense_variant,p.Asp110Glu,ENST00000447815,NM_001143974.1;ASAH2,missense_variant,p.Asp91Glu,ENST00000329428,;ASAH2,upstream_gene_variant,,ENST00000443575,;	T	ENST00000395526	Transcript	missense_variant	330/6880	330/2343	110/780	D/E	gaC/gaA		1		-1	ASAH2	HGNC	HGNC:18860	protein_coding	YES	CCDS7239.2	ENSP00000378897	Q9NR71		UPI00004042A7	NM_019893.2	deleterious(0)		2/20		hmmpanther:PTHR12670,Pfam_domain:PF04734																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	50245252	50245252	G	T	1	0	0	0	0	1	0	0	0	1150	1020	36	2		2	ASAH2	10	50245252	Missense_Mutation	SNP	G	C3N-00560_TP	125515	50245252	83552170	724	18663											
PCDH15	0	.	GRCh38	chr10	53866788	53866788	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactacaaatccttcttttcCctctttaattggtggtatta	9	18	4	10	0	2	0	0	0	2	0	4	0	4	0	2	2	1	1	2	2	5	9	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3586G>T	p.Gly1196Ter	p.G1196*	ENST00000373957	28/35	279	195	84	387	387	0	strelka-varscan-mutect	PCDH15,stop_gained,p.Gly1196Ter,ENST00000614895,;PCDH15,stop_gained,p.Gly1191Ter,ENST00000373965,NM_001142772.1;PCDH15,stop_gained,p.Gly1191Ter,ENST00000414778,;PCDH15,stop_gained,p.Gly1196Ter,ENST00000617051,;PCDH15,stop_gained,p.Gly1196Ter,ENST00000373957,NM_001142763.1;PCDH15,stop_gained,p.Gly1191Ter,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,stop_gained,p.Gly1191Ter,ENST00000395430,NM_001142766.1;PCDH15,stop_gained,p.Gly1169Ter,ENST00000395433,NM_001142773.1;PCDH15,stop_gained,p.Gly1154Ter,ENST00000395432,NM_001142767.1;PCDH15,stop_gained,p.Gly1191Ter,ENST00000320301,NM_033056.3;PCDH15,stop_gained,p.Gly1120Ter,ENST00000622048,;PCDH15,stop_gained,p.Gly1120Ter,ENST00000437009,NM_001142765.1;PCDH15,stop_gained,p.Gly1191Ter,ENST00000617271,NM_001142770.1;PCDH15,stop_gained,p.Gly1203Ter,ENST00000613657,NM_001142769.1;PCDH15,stop_gained,p.Gly1198Ter,ENST00000395445,;PCDH15,stop_gained,p.Gly1191Ter,ENST00000616114,;PCDH15,stop_gained,p.Gly1191Ter,ENST00000395438,;PCDH15,stop_gained,p.Gly1203Ter,ENST00000612394,;PCDH15,stop_gained,p.Gly1196Ter,ENST00000621708,NM_001142771.1;PCDH15,stop_gained,p.Gly802Ter,ENST00000409834,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,non_coding_transcript_exon_variant,,ENST00000463095,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	A	ENST00000373957	Transcript	stop_gained	3981/7032	3586/5889	1196/1962	G/*	Gga/Tga		1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1			28/35		PROSITE_profiles:PS50268,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	HIGH	1	SNV	5			1										PASS		rs1288942478	.												A	4	1	57	53866788	53866788	C	A	1	0	0	0	0	0	1	0	0	11598	632	22	2		2	PCDH15	10	53866788	Nonsense_Mutation	SNP	C	C3N-00560_TP	3621536	53866788	79930634	725	18664											
PCDH15	0	.	GRCh38	chr10	53959753	53959753	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatattcctcctgtgtgaagCgtgggatctcaccaggatgt	8	13	11	9	1	1	1	1	1	1	0	4	3	3	3	3	2	1	0	3	2	3	3			C3N-00560_TP	C3N-00560_NB	C	C																c.3116G>T	p.Arg1039Leu	p.R1039L	ENST00000373957	24/35	293	242	51	343	343	0	strelka-varscan-mutect	PCDH15,missense_variant,p.Arg1039Leu,ENST00000614895,;PCDH15,missense_variant,p.Arg1034Leu,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Arg1034Leu,ENST00000414778,;PCDH15,missense_variant,p.Arg1039Leu,ENST00000617051,;PCDH15,missense_variant,p.Arg1039Leu,ENST00000373957,NM_001142763.1;PCDH15,missense_variant,p.Arg1034Leu,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,missense_variant,p.Arg1034Leu,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Arg1012Leu,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Arg997Leu,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Arg1034Leu,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Arg963Leu,ENST00000622048,;PCDH15,missense_variant,p.Arg963Leu,ENST00000437009,NM_001142765.1;PCDH15,missense_variant,p.Arg1034Leu,ENST00000617271,NM_001142770.1;PCDH15,missense_variant,p.Arg1046Leu,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Arg1041Leu,ENST00000395445,;PCDH15,missense_variant,p.Arg1034Leu,ENST00000616114,;PCDH15,missense_variant,p.Arg1034Leu,ENST00000395438,;PCDH15,missense_variant,p.Arg1046Leu,ENST00000612394,;PCDH15,missense_variant,p.Arg1039Leu,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Arg645Leu,ENST00000409834,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	A	ENST00000373957	Transcript	missense_variant	3511/7032	3116/5889	1039/1962	R/L	cGc/cTc	COSM125167,COSM125168,COSM125169,COSM5009170	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1	tolerated(0.34)		24/35		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		rs907693214	.												A	3	1	57	53959753	53959753	C	A	1	0	0	0	0	1	0	0	0	11598	768	27	1		1	PCDH15	10	53959753	Missense_Mutation	SNP	C	C3N-00560_TP	92965	53959753	79837669	726	18665											
PCDH15	0	.	GRCh38	chr10	54664188	54664188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccatcatcatactggccCaagcagatttcaaagagaga	15	9	7	10	0	3	3	3	0	0	3	3	4	3	3	2	1	3	1	2	1	4	3	rs772829621		C3N-00560_TP	C3N-00560_NB	C	C																c.75G>T	p.Leu25Phe	p.L25F	ENST00000373957	2/35	360	307	53	390	388	2	strelka-varscan-mutect	PCDH15,missense_variant,p.Leu25Phe,ENST00000614895,;PCDH15,missense_variant,p.Leu25Phe,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Leu25Phe,ENST00000414778,;PCDH15,missense_variant,p.Leu25Phe,ENST00000617051,;PCDH15,missense_variant,p.Leu25Phe,ENST00000373957,NM_001142763.1;PCDH15,missense_variant,p.Leu25Phe,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,missense_variant,p.Leu25Phe,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Leu25Phe,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Leu25Phe,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Leu25Phe,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Leu25Phe,ENST00000622048,;PCDH15,missense_variant,p.Leu25Phe,ENST00000437009,NM_001142765.1;PCDH15,missense_variant,p.Leu25Phe,ENST00000617271,NM_001142770.1;PCDH15,missense_variant,p.Leu25Phe,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Leu25Phe,ENST00000395445,;PCDH15,missense_variant,p.Leu25Phe,ENST00000616114,;PCDH15,missense_variant,p.Leu25Phe,ENST00000395438,;PCDH15,missense_variant,p.Leu25Phe,ENST00000612394,;PCDH15,missense_variant,p.Leu25Phe,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Leu25Phe,ENST00000373955,;PCDH15,missense_variant,p.Leu25Phe,ENST00000395446,;PCDH15,missense_variant,p.Leu25Phe,ENST00000395440,;PCDH15,missense_variant,p.Leu25Phe,ENST00000395442,;PCDH15,missense_variant,p.Leu25Phe,ENST00000613346,;PCDH15,missense_variant,p.Leu25Phe,ENST00000458638,;PCDH15,5_prime_UTR_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,missense_variant,p.Leu25Phe,ENST00000448885,;PCDH15,missense_variant,p.Leu25Phe,ENST00000373956,;PCDH15,missense_variant,p.Leu25Phe,ENST00000414367,;	A	ENST00000373957	Transcript	missense_variant	470/7032	75/5889	25/1962	L/F	ttG/ttT	rs772829621	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1	tolerated_low_confidence(0.23)		2/35		Cleavage_site_(Signalp):SignalP-TM																	MODERATE	1	SNV	5			1										PASS		rs772829621	.												A	3	1	57	54664188	54664188	C	A	1	0	0	0	0	1	0	0	0	11598	593	21	2		2	PCDH15	10	54664188	Missense_Mutation	SNP	C	C3N-00560_TP	704435	54664188	79133234	727	18666											
JMJD1C	0	.	GRCh38	chr10	63189180	63189180	+	Frame_Shift_Del	DEL	C	C	-																															atacacacctgtccttgtttCcaacattctttgaaaagctt																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.6558delG	p.Trp2186Ter	p.W2186*	ENST00000399262	18/26	30	25	5	48	48	0	sindel-varindel-pindel	JMJD1C,frameshift_variant,p.Trp2186Ter,ENST00000399262,NM_001318154.1,NM_001322252.1,NM_001322254.1,NM_001322258.1,NM_032776.2;JMJD1C,frameshift_variant,p.Trp2004Ter,ENST00000542921,NM_001318153.1,NM_001282948.1;JMJD1C,frameshift_variant,p.Trp733Ter,ENST00000327520,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000402544,;JMJD1C,downstream_gene_variant,,ENST00000497922,;JMJD1C,downstream_gene_variant,,ENST00000483298,;JMJD1C,downstream_gene_variant,,ENST00000490669,;	-	ENST00000399262	Transcript	frameshift_variant	6777/8666	6558/7623	2186/2540	W/X	tgG/tg		1		-1	JMJD1C	HGNC	HGNC:12313	protein_coding	YES	CCDS41532.1	ENSP00000382204	Q15652		UPI0000198BEF	NM_001318154.1,NM_001322252.1,NM_001322254.1,NM_001322258.1,NM_032776.2			18/26		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6,Superfamily_domains:SSF51197																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	57	63189180	63189180	C	-	1	0	1	0	1	0	0	0	0	7864	856	30	0		0	JMJD1C	10	63189180	Frame_Shift_Del	DEL	C	C3N-00560_TP	8524992	63189180	70608242	728	18667											
LRRTM3	0	.	GRCh38	chr10	66927491	66927491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggacctgggatataaccGgatccgaagtttagccagga	11	10	12	8	2	0	0	0	0	0	0	1	5	1	4	4	4	2	1	4	4	4	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.575G>T	p.Arg192Leu	p.R192L	ENST00000361320	2/3	221	175	46	242	242	0	strelka-varscan-mutect	LRRTM3,missense_variant,p.Arg192Leu,ENST00000361320,NM_178011.4;CTNNA3,intron_variant,,ENST00000433211,NM_001127384.2,NM_013266.3;CTNNA3,intron_variant,,ENST00000494580,;	T	ENST00000361320	Transcript	missense_variant	1153/4358	575/1746	192/581	R/L	cGg/cTg		1		1	LRRTM3	HGNC	HGNC:19410	protein_coding	YES	CCDS7270.1	ENSP00000355187	Q86VH5		UPI0000088C0F	NM_178011.4	deleterious(0)		2/3		PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF54,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	66927491	66927491	G	T	1	0	0	0	0	1	0	0	0	8947	1116	39	1		1	LRRTM3	10	66927491	Missense_Mutation	SNP	G	C3N-00560_TP	3738311	66927491	66869931	729	18668											
DNAJC12	0	.	GRCh38	chr10	67811542	67811542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtcttcactgagtcattCaaagcttcccactgctggaa	10	11	7	13	1	4	1	3	1	1	0	5	2	5	2	2	1	2	2	2	1	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.279G>T	p.Leu93Phe	p.L93F	ENST00000225171	3/5	209	181	28	224	224	0	strelka-varscan-mutect	DNAJC12,missense_variant,p.Leu93Phe,ENST00000225171,NM_021800.2;DNAJC12,missense_variant,p.Leu93Phe,ENST00000339758,NM_201262.1;DNAJC12,missense_variant,p.Leu123Phe,ENST00000483798,;RNU6-1250P,downstream_gene_variant,,ENST00000391218,;DNAJC12,3_prime_UTR_variant,,ENST00000480963,;DNAJC12,3_prime_UTR_variant,,ENST00000480180,;	A	ENST00000225171	Transcript	missense_variant	432/1201	279/597	93/198	L/F	ttG/ttT		1		-1	DNAJC12	HGNC	HGNC:28908	protein_coding	YES	CCDS7271.1	ENSP00000225171	Q9UKB3	Q6IAH1	UPI000012DAAA	NM_021800.2	deleterious(0)		3/5																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	67811542	67811542	C	A	1	0	0	0	0	1	0	0	0	4445	825	29	2		2	DNAJC12	10	67811542	Missense_Mutation	SNP	C	C3N-00560_TP	884051	67811542	65985880	730	18669											
DNA2	0	.	GRCh38	chr10	68470144	68470144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgttcttggaaaggaagCtaccactttcttctgaaatc	12	13	7	9	0	3	1	0	1	3	0	4	3	3	3	1	2	3	2	1	2	5	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.94G>T	p.Ala32Ser	p.A32S	ENST00000358410	2/21	126	103	23	117	117	0	strelka-varscan-mutect	DNA2,missense_variant,p.Ala32Ser,ENST00000358410,NM_001080449.2;DNA2,missense_variant,p.Ala32Ser,ENST00000551118,;DNA2,missense_variant,p.Ala32Ser,ENST00000399180,;DNA2,missense_variant,p.Ala32Ser,ENST00000399179,;DNA2,3_prime_UTR_variant,,ENST00000550357,;	A	ENST00000358410	Transcript	missense_variant	145/4208	94/3183	32/1060	A/S	Gct/Tct		1		-1	DNA2	HGNC	HGNC:2939	protein_coding	YES	CCDS44415.2	ENSP00000351185	P51530		UPI00001C1EDB	NM_001080449.2	tolerated_low_confidence(0.2)		2/21		hmmpanther:PTHR10887:SF14,hmmpanther:PTHR10887																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	68470144	68470144	C	A	1	0	0	0	0	1	0	0	0	4405	797	28	2		2	DNA2	10	68470144	Missense_Mutation	SNP	C	C3N-00560_TP	658602	68470144	65327278	731	18670											
TET1	0	.	GRCh38	chr10	68574235	68574235	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgaaaaagaaaccatctGttgttgtgcctctggaggta	12	11	11	7	0	2	2	0	1	2	1	2	3	2	3	2	2	3	4	2	2	4	3	rs546506706		C3N-00560_TP	C3N-00560_NB	G	G																c.1897G>C	p.Val633Leu	p.V633L	ENST00000373644	2/12	89	77	12	89	88	1	strelka-varscan-mutect	TET1,missense_variant,p.Val633Leu,ENST00000373644,NM_030625.2;	C	ENST00000373644	Transcript	missense_variant	2106/9288	1897/6411	633/2136	V/L	Gtt/Ctt	rs546506706	1		1	TET1	HGNC	HGNC:29484	protein_coding	YES	CCDS7281.1	ENSP00000362748	Q8NFU7		UPI000013D114	NM_030625.2	tolerated(0.23)		2/12		hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF2																	MODERATE	1	SNV	1			1										PASS		rs546506706	.												C	3	2	57	68574235	68574235	G	C	1	0	0	0	0	1	0	0	0	16190	1377	48	4		4	TET1	10	68574235	Missense_Mutation	SNP	G	C3N-00560_TP	104091	68574235	65223187	732	18671											
COL13A1	0	.	GRCh38	chr10	69875155	69875155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgccattgggatgcctGgacgtgtggtgagttggccc	6	10	17	8	1	0	1	0	1	0	0	0	3	0	3	3	5	2	1	3	5	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.427G>A	p.Gly143Arg	p.G143R	ENST00000398978	5/40	243	209	34	265	265	0	strelka-varscan-mutect	COL13A1,missense_variant,p.Gly143Arg,ENST00000398978,NM_001130103.1;COL13A1,missense_variant,p.Gly143Arg,ENST00000354547,NM_080801.3;COL13A1,missense_variant,p.Gly143Arg,ENST00000357811,;COL13A1,missense_variant,p.Gly143Arg,ENST00000522165,NM_080800.3;COL13A1,missense_variant,p.Gly143Arg,ENST00000517713,NM_080802.3;COL13A1,intron_variant,,ENST00000520267,NM_080798.3;COL13A1,intron_variant,,ENST00000398969,;COL13A1,intron_variant,,ENST00000520133,NM_080805.3;COL13A1,upstream_gene_variant,,ENST00000484990,;COL13A1,missense_variant,p.Gly143Arg,ENST00000479733,;	A	ENST00000398978	Transcript	missense_variant	919/3093	427/2154	143/717	G/R	Gga/Aga		1		1	COL13A1	HGNC	HGNC:2190	protein_coding	YES	CCDS44419.1	ENSP00000381949	Q5TAT6		UPI000046FD72	NM_001130103.1	deleterious(0)		5/40		hmmpanther:PTHR24023:SF537,hmmpanther:PTHR24023																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	69875155	69875155	G	A	1	0	0	0	0	1	0	0	0	3458	1349	47	3		3	COL13A1	10	69875155	Missense_Mutation	SNP	G	C3N-00560_TP	1300920	69875155	63922267	733	18672											
ADAMTS14	0	.	GRCh38	chr10	70702447	70702447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggagtgggcagaacctGacggggacctgcacaatgaa	13	4	15	9	1	0	3	0	2	0	1	0	5	0	5	2	4	3	3	2	4	3	0	rs764128541		C3N-00560_TP	C3N-00560_NB	G	G																c.658G>T	p.Asp220Tyr	p.D220Y	ENST00000373208	3/22	97	65	32	77	77	0	strelka-varscan-mutect	ADAMTS14,missense_variant,p.Asp220Tyr,ENST00000373208,NM_139155.2;ADAMTS14,missense_variant,p.Asp220Tyr,ENST00000373207,NM_080722.3;	T	ENST00000373208	Transcript	missense_variant	658/5269	658/3681	220/1226	D/Y	Gac/Tac	rs764128541	1		1	ADAMTS14	HGNC	HGNC:14899	protein_coding	YES	CCDS7307.1	ENSP00000362304	Q8WXS8		UPI000013E57B	NM_139155.2	deleterious(0.04)		3/22		hmmpanther:PTHR13723:SF24,hmmpanther:PTHR13723																	MODERATE	1	SNV	2			1										PASS		rs764128541	.												T	3	4	57	70702447	70702447	G	T	1	0	0	0	0	1	0	0	0	303	1290	45	2		2	ADAMTS14	10	70702447	Missense_Mutation	SNP	G	C3N-00560_TP	827292	70702447	63094975	734	18673											
ADAMTS14	0	.	GRCh38	chr10	70738950	70738950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgttcgcggtcatgtgggGgcggggtgcgatcccgcagc	4	8	18	11	5	1	0	1	0	0	0	3	1	2	0	1	5	2	2	1	5	0	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1717G>C	p.Gly573Arg	p.G573R	ENST00000373208	11/22	182	144	38	146	146	0	strelka-varscan-mutect	ADAMTS14,missense_variant,p.Gly573Arg,ENST00000373208,NM_139155.2;ADAMTS14,missense_variant,p.Gly570Arg,ENST00000373207,NM_080722.3;	C	ENST00000373208	Transcript	missense_variant	1717/5269	1717/3681	573/1226	G/R	Ggc/Cgc		1		1	ADAMTS14	HGNC	HGNC:14899	protein_coding	YES	CCDS7307.1	ENSP00000362304	Q8WXS8		UPI000013E57B	NM_139155.2	deleterious(0.03)		11/22		Low_complexity_(Seg):seg,PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF24,hmmpanther:PTHR13723,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895,Prints_domain:PR01857																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	57	70738950	70738950	G	C	1	0	0	0	0	1	0	0	0	303	1232	43	4		4	ADAMTS14	10	70738950	Missense_Mutation	SNP	G	C3N-00560_TP	36503	70738950	63058472	735	18674											
CHST3	0	.	GRCh38	chr10	72005934	72005934	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccttttcttggtttttgTggtgatagtttttgtcttca	3	22	9	7	1	3	1	1	1	2	0	3	1	3	1	1	2	0	2	1	2	1	9	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.92T>A	p.Val31Glu	p.V31E	ENST00000373115	2/3	512	332	180	479	479	0	strelka-varscan-mutect	CHST3,missense_variant,p.Val31Glu,ENST00000373115,NM_004273.4;	A	ENST00000373115	Transcript	missense_variant	529/6970	92/1440	31/479	V/E	gTg/gAg		1		1	CHST3	HGNC	HGNC:1971	protein_coding	YES	CCDS7312.1	ENSP00000362207	Q7LGC8		UPI000013CB04	NM_004273.4	deleterious_low_confidence(0)		2/3		PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF38,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	72005934	72005934	T	A	1	0	0	0	0	1	0	0	0	3165	1696	59	4		4	CHST3	10	72005934	Missense_Mutation	SNP	T	C3N-00560_TP	1266984	72005934	61791488	736	18675											
SPOCK2	0	.	GRCh38	chr10	72072237	72072237	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcacttcaccttctggcagGggtccttggtggtatccagg	5	12	13	11	0	2	0	1	0	1	0	4	0	4	0	3	6	1	3	3	6	1	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.266C>A	p.Pro89His	p.P89H	ENST00000373109	4/11	56	40	16	57	57	0	strelka-varscan-mutect	SPOCK2,missense_variant,p.Pro89His,ENST00000373109,NM_001244950.1;SPOCK2,missense_variant,p.Pro89His,ENST00000317376,NM_014767.2;SPOCK2,missense_variant,p.Pro88His,ENST00000536168,;SPOCK2,upstream_gene_variant,,ENST00000460053,;SPOCK2,upstream_gene_variant,,ENST00000469121,;SPOCK2,upstream_gene_variant,,ENST00000463279,;	T	ENST00000373109	Transcript	missense_variant	711/5445	266/1275	89/424	P/H	cCc/cAc		1		-1	SPOCK2	HGNC	HGNC:13564	protein_coding	YES	CCDS7313.1	ENSP00000362201	Q92563		UPI0000136F51	NM_001244950.1	deleterious(0)		4/11		Gene3D:3.40.50.1820,hmmpanther:PTHR22118,hmmpanther:PTHR22118:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	72072237	72072237	G	T	1	0	0	0	0	1	0	0	0	15433	1232	43	2		2	SPOCK2	10	72072237	Missense_Mutation	SNP	G	C3N-00560_TP	66303	72072237	61725185	737	18676											
KCNMA1	0	.	GRCh38	chr10	76944820	76944820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgtcatcaaactgcataGatttgatgttgagtgacgcc	10	13	10	8	1	2	4	2	3	0	1	2	4	2	4	1	0	3	3	1	0	2	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2855C>T	p.Ser952Phe	p.S952F	ENST00000286628	23/28	461	297	164	501	501	0	strelka-varscan-mutect	KCNMA1,missense_variant,p.Ser759Phe,ENST00000604624,NM_001322832.1,NM_001322829.1;KCNMA1,missense_variant,p.Ser894Phe,ENST00000286627,NM_002247.3;KCNMA1,missense_variant,p.Ser952Phe,ENST00000286628,NM_001161352.1;KCNMA1,missense_variant,p.Ser787Phe,ENST00000354353,;KCNMA1,missense_variant,p.Ser729Phe,ENST00000406533,NM_001322837.1,NM_001271519.1;KCNMA1,missense_variant,p.Ser894Phe,ENST00000372443,;KCNMA1,missense_variant,p.Ser894Phe,ENST00000372440,NM_001014797.2;KCNMA1,missense_variant,p.Ser952Phe,ENST00000404771,;KCNMA1,missense_variant,p.Ser926Phe,ENST00000457953,;KCNMA1,missense_variant,p.Ser935Phe,ENST00000626620,NM_001161353.1;KCNMA1,missense_variant,p.Ser887Phe,ENST00000372437,;KCNMA1,missense_variant,p.Ser868Phe,ENST00000372421,;KCNMA1,missense_variant,p.Ser831Phe,ENST00000372408,;KCNMA1,missense_variant,p.Ser845Phe,ENST00000372403,;KCNMA1,missense_variant,p.Ser730Phe,ENST00000404857,NM_001271518.1;KCNMA1,missense_variant,p.Ser602Phe,ENST00000434208,;KCNMA1-AS1,intron_variant,,ENST00000600782,;KCNMA1-AS1,intron_variant,,ENST00000598613,;KCNMA1-AS1,intron_variant,,ENST00000617241,;KCNMA1-AS1,intron_variant,,ENST00000426234,;KCNMA1-AS1,intron_variant,,ENST00000458661,;KCNMA1-AS1,intron_variant,,ENST00000608791,;KCNMA1-AS1,intron_variant,,ENST00000611475,;	A	ENST00000286628	Transcript	missense_variant	2855/6100	2855/3711	952/1236	S/F	tCt/tTt		1		-1	KCNMA1	HGNC	HGNC:6284	protein_coding	YES	CCDS60569.1	ENSP00000286628	Q12791		UPI00003519E7	NM_001161352.1	deleterious(0)		23/28		Gene3D:3.40.50.720,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	76944820	76944820	G	A	1	0	0	0	0	1	0	0	0	7990	942	33	3		3	KCNMA1	10	76944820	Missense_Mutation	SNP	G	C3N-00560_TP	4872583	76944820	56852602	738	18677											
SFTPA1	0	.	GRCh38	chr10	79614016	79614016	+	Frame_Shift_Del	DEL	C	C	-																															ctggtaccgaggggagcccgCaggtcggggaaaagagcagt																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.695delC	p.Ala232GlufsTer27	p.A232Efs*27	ENST00000419470	6/6	322	282	40	390	390	0	sindel-varindel	SFTPA1,frameshift_variant,p.Ala217GlufsTer27,ENST00000398636,NM_001164646.1,NM_005411.4,NM_001164644.1;SFTPA1,frameshift_variant,p.Ala232GlufsTer27,ENST00000419470,NM_001093770.2,NM_001164645.1;SFTPA1,frameshift_variant,p.Ala217GlufsTer27,ENST00000428376,NM_001164647.1;SFTPA1,downstream_gene_variant,,ENST00000439264,;SFTPA1,downstream_gene_variant,,ENST00000429958,;SFTPA1,downstream_gene_variant,,ENST00000486922,;	-	ENST00000419470	Transcript	frameshift_variant	771/2210	695/792	232/263	A/X	gCa/ga		1		1	SFTPA1	HGNC	HGNC:10798	protein_coding	YES	CCDS44444.2	ENSP00000397082	Q8IWL2		UPI00006C104C	NM_001093770.2,NM_001164645.1			6/6		PROSITE_profiles:PS50041,hmmpanther:PTHR24024,hmmpanther:PTHR24024:SF21,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	57	79614016	79614016	C	-	1	0	1	0	1	0	0	0	0	14449	710	25	0		0	SFTPA1	10	79614016	Frame_Shift_Del	DEL	C	C3N-00560_TP	2669196	79614016	54183406	739	18678											
SH2D4B	0	.	GRCh38	chr10	80644014	80644014	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaattatcactgtttcaGgaggagagttacttcaggaa	14	11	11	5	0	3	1	3	0	0	1	3	5	3	4	0	4	1	2	0	4	4	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1007G>C	p.Arg336Thr	p.R336T	ENST00000339284	7/7	187	124	63	207	207	0	strelka-varscan-mutect	SH2D4B,missense_variant,p.Arg336Thr,ENST00000339284,NM_207372.2;SH2D4B,missense_variant,p.Arg288Thr,ENST00000313455,NM_001145719.1;SH2D4B,non_coding_transcript_exon_variant,,ENST00000372150,;SH2D4B,non_coding_transcript_exon_variant,,ENST00000481537,;	C	ENST00000339284	Transcript	missense_variant	1437/3983	1007/1074	336/357	R/T	aGg/aCg		1		1	SH2D4B	HGNC	HGNC:31440	protein_coding	YES	CCDS7370.1	ENSP00000345295	Q5SQS7		UPI00002289C3	NM_207372.2	tolerated_low_confidence(0.39)		7/7																			MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	57	80644014	80644014	G	C	1	0	0	0	0	1	0	0	0	14494	1000	35	4		4	SH2D4B	10	80644014	Missense_Mutation	SNP	G	C3N-00560_TP	1029998	80644014	53153408	740	18679											
CDHR1	0	.	GRCh38	chr10	84214464	84214464	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcactggcgcagcccAgtggaccgtgcctactgtct	6	7	12	16	2	1	0	0	0	1	0	1	1	1	1	4	2	4	2	4	2	1	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.2423A>C	p.Gln808Pro	p.Q808P	ENST00000623527	17/17	238	174	64	195	194	1	strelka-varscan-mutect	CDHR1,missense_variant,p.Gln808Pro,ENST00000623527,NM_033100.3;CDHR1,missense_variant,p.Gln547Pro,ENST00000372117,;CDHR1,intron_variant,,ENST00000332904,NM_001171971.2;CDHR1,intron_variant,,ENST00000623399,;CDHR1,non_coding_transcript_exon_variant,,ENST00000459673,;CDHR1,downstream_gene_variant,,ENST00000622973,;	C	ENST00000623527	Transcript	missense_variant	2549/6781	2423/2580	808/859	Q/P	cAg/cCg		1		1	CDHR1	HGNC	HGNC:14550	protein_coding	YES	CCDS7372.1	ENSP00000485478	Q96JP9	F1T0L2	UPI0000161C2F	NM_033100.3	tolerated_low_confidence(0.3)		17/17		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF340																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	84214464	84214464	A	C	1	0	0	0	0	1	0	0	0	2821	188	7	5		5	CDHR1	10	84214464	Missense_Mutation	SNP	A	C3N-00560_TP	3570450	84214464	49582958	741	18680											
LIPK	0	.	GRCh38	chr10	88737663	88737663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgacaaaatgttccaccCtcatacattgtttgaccaat	12	13	6	10	0	1	2	1	2	0	0	2	2	2	2	3	1	1	2	3	1	4	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.698C>A	p.Pro233His	p.P233H	ENST00000404190	6/9	162	115	47	145	145	0	strelka-varscan-mutect	LIPK,missense_variant,p.Pro233His,ENST00000404190,NM_001080518.1;	A	ENST00000404190	Transcript	missense_variant	698/1230	698/1200	233/399	P/H	cCt/cAt		1		1	LIPK	HGNC	HGNC:23444	protein_coding	YES	CCDS44455.1	ENSP00000383900	Q5VXJ0		UPI00000497BC	NM_001080518.1	tolerated(0.1)		6/9		hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF45,PIRSF_domain:PIRSF000862,Gene3D:3.40.50.1820,Pfam_domain:PF00561,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	88737663	88737663	C	A	1	0	0	0	0	1	0	0	0	8748	681	24	2		2	LIPK	10	88737663	Missense_Mutation	SNP	C	C3N-00560_TP	4523199	88737663	45059759	742	18681											
HTR7	0	.	GRCh38	chr10	90749338	90749338	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcagcactcttcctggCagccttgtaaatctggtagt	7	14	10	10	0	2	0	0	0	2	0	3	0	3	0	2	3	2	5	2	3	3	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.796G>T	p.Ala266Ser	p.A266S	ENST00000336152	2/4	253	181	72	217	217	0	strelka-varscan-mutect	HTR7,missense_variant,p.Ala266Ser,ENST00000336152,NM_019859.3;HTR7,missense_variant,p.Ala266Ser,ENST00000371719,NM_019860.3;HTR7,missense_variant,p.Ala266Ser,ENST00000277874,NM_000872.4;	A	ENST00000336152	Transcript	missense_variant	823/3126	796/1440	266/479	A/S	Gcc/Tcc		1		-1	HTR7	HGNC	HGNC:5302	protein_coding	YES	CCDS7408.1	ENSP00000337949	P34969		UPI0000049B68	NM_019859.3	tolerated(0.14)		2/4		PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF116,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00652																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	90749338	90749338	C	A	1	0	0	0	0	1	0	0	0	7348	710	25	2		2	HTR7	10	90749338	Missense_Mutation	SNP	C	C3N-00560_TP	2011675	90749338	43048084	743	18682											
RRP12	0	.	GRCh38	chr10	97370233	97370233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccatggtcaccgcgcccaCcaggccagggtagatcagga	10	4	13	14	2	2	1	2	0	0	1	2	3	2	2	5	4	0	1	5	4	1	1	rs750295475		C3N-00560_TP	C3N-00560_NB	C	C																c.2731G>T	p.Val911Leu	p.V911L	ENST00000536831	25/35	154	103	51	140	140	0	strelka-varscan-mutect	RRP12,missense_variant,p.Val911Leu,ENST00000536831,;RRP12,missense_variant,p.Val911Leu,ENST00000370992,NM_015179.3;RRP12,missense_variant,p.Val850Leu,ENST00000414986,NM_001145114.1;RRP12,missense_variant,p.Val811Leu,ENST00000315563,NM_001284337.1;RRP12,upstream_gene_variant,,ENST00000487612,;RRP12,non_coding_transcript_exon_variant,,ENST00000479481,;RRP12,downstream_gene_variant,,ENST00000490815,;RRP12,upstream_gene_variant,,ENST00000491313,;	A	ENST00000536831	Transcript	missense_variant	2920/4476	2731/3894	911/1297	V/L	Gtg/Ttg	rs750295475	1		-1	RRP12	HGNC	HGNC:29100	protein_coding	YES	CCDS7457.1	ENSP00000446184	Q5JTH9		UPI000013E51C		tolerated(0.25)		25/35		hmmpanther:PTHR21576,hmmpanther:PTHR21576:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		rs750295475	.												A	3	1	57	97370233	97370233	C	A	1	0	0	0	0	1	0	0	0	13941	507	18	2		2	RRP12	10	97370233	Missense_Mutation	SNP	C	C3N-00560_TP	6620895	97370233	36427189	744	18683											
ZFYVE27	0	.	GRCh38	chr10	97757713	97757713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgcccaagtcctccatGggggccacaggtgagtggtg	8	7	16	10	0	0	1	0	1	0	0	2	1	2	1	4	5	1	0	4	5	2	0			C3N-00560_TP	C3N-00560_NB	G	G																c.1176G>T	p.Met392Ile	p.M392I	ENST00000423811	12/13	235	155	80	174	174	0	strelka-varscan-mutect	ZFYVE27,missense_variant,p.Met387Ile,ENST00000393677,NM_144588.6;ZFYVE27,missense_variant,p.Met392Ile,ENST00000423811,NM_001002261.3;ZFYVE27,missense_variant,p.Met380Ile,ENST00000359980,NM_001002262.3;ZFYVE27,missense_variant,p.Met348Ile,ENST00000337540,NM_001174119.1;ZFYVE27,missense_variant,p.Met287Ile,ENST00000370610,NM_001174121.1;ZFYVE27,missense_variant,p.Met294Ile,ENST00000357540,NM_001174120.1;ZFYVE27,missense_variant,p.Met262Ile,ENST00000370613,NM_001174122.1;ZFYVE27,non_coding_transcript_exon_variant,,ENST00000477521,;ZFYVE27,non_coding_transcript_exon_variant,,ENST00000473237,;	T	ENST00000423811	Transcript	missense_variant	1375/3045	1176/1251	392/416	M/I	atG/atT	COSM4742751	1		1	ZFYVE27	HGNC	HGNC:26559	protein_coding	YES	CCDS31262.1	ENSP00000409594	Q5T4F4		UPI00003FE526	NM_001002261.3	deleterious(0.01)		12/13		PROSITE_profiles:PS50178,hmmpanther:PTHR14543,Gene3D:3.30.40.10,Pfam_domain:PF01363,SMART_domains:SM00064,Superfamily_domains:SSF57903											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	57	97757713	97757713	G	T	1	0	0	0	0	1	0	0	0	18246	1348	47	2		2	ZFYVE27	10	97757713	Missense_Mutation	SNP	G	C3N-00560_TP	387480	97757713	36039709	745	18684											
DNMBP	0	.	GRCh38	chr10	99898213	99898213	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcaactccattagcaaCagcgggtaacgcattactct	12	10	7	12	2	2	0	1	0	1	0	3	0	3	0	1	1	7	4	1	1	5	4	rs866818939		C3N-00560_TP	C3N-00560_NB	C	C																c.2793G>T	p.=	p.L931L	ENST00000324109	9/17	392	287	105	342	342	0	strelka-varscan-mutect	DNMBP,synonymous_variant,p.=,ENST00000324109,NM_015221.2;DNMBP,synonymous_variant,p.=,ENST00000636706,NM_001318326.1;DNMBP,synonymous_variant,p.=,ENST00000543621,NM_001318327.1;	A	ENST00000324109	Transcript	synonymous_variant	2885/6400	2793/4734	931/1577	L	ctG/ctT	rs866818939	1		-1	DNMBP	HGNC	HGNC:30373	protein_coding	YES	CCDS7485.1	ENSP00000315659	Q6XZF7		UPI000013D6C9	NM_015221.2			9/17		PROSITE_profiles:PS50010,hmmpanther:PTHR22834:SF19,hmmpanther:PTHR22834,PROSITE_patterns:PS00741,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065																	LOW	1	SNV	1			1										PASS		rs866818939	.												A	2	1	57	99898213	99898213	C	A	1	0	0	0	0	0	0	0	1	4487	465	17	2		2	DNMBP	10	99898213	Silent	SNP	C	C3N-00560_TP	2140500	99898213	33899209	746	18685											
CPN1	0	.	GRCh38	chr10	100065212	100065212	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagagcttgtcgtcaggCgtgggggtgctggcggtgcg	4	9	21	7	4	1	1	1	0	0	1	2	2	1	2	0	6	3	2	0	6	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.735G>T	p.=	p.T245T	ENST00000370418	4/9	104	75	29	98	98	0	strelka-varscan-mutect	CPN1,synonymous_variant,p.=,ENST00000370418,NM_001308.2;CPN1,synonymous_variant,p.=,ENST00000441382,;	A	ENST00000370418	Transcript	synonymous_variant	987/1863	735/1377	245/458	T	acG/acT		1		-1	CPN1	HGNC	HGNC:2312	protein_coding	YES	CCDS7486.1	ENSP00000359446	P15169		UPI00000012AC	NM_001308.2			4/9		hmmpanther:PTHR11532:SF7,hmmpanther:PTHR11532,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187																	LOW	1	SNV	1			1										PASS		rs986069911	.												A	2	1	57	100065212	100065212	C	A	1	0	0	0	0	0	0	0	1	3604	755	27	1		1	CPN1	10	100065212	Silent	SNP	C	C3N-00560_TP	166999	100065212	33732210	747	18686											
PAX2	0	.	GRCh38	chr10	100749851	100749851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggcccaccagggtgtgcGgccctgtgacatctcccggc	4	7	14	16	2	1	1	0	1	1	0	2	1	1	1	4	4	1	1	4	4	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.149G>T	p.Arg50Leu	p.R50L	ENST00000370296	2/11	117	85	32	121	121	0	strelka-varscan-mutect	PAX2,missense_variant,p.Arg50Leu,ENST00000370296,NM_003988.3;PAX2,missense_variant,p.Arg50Leu,ENST00000428433,NM_003987.3,NM_003990.3;PAX2,missense_variant,p.Arg50Leu,ENST00000355243,NM_001304569.1,NM_000278.3,NM_003989.3;PAX2,missense_variant,p.Arg49Leu,ENST00000361791,;PAX2,missense_variant,p.Arg54Leu,ENST00000554172,;PAX2,missense_variant,p.Arg50Leu,ENST00000427256,;PAX2,intron_variant,,ENST00000554363,;PAX2,intron_variant,,ENST00000553492,;PAX2,non_coding_transcript_exon_variant,,ENST00000483202,;	T	ENST00000370296	Transcript	missense_variant	699/4140	149/1191	50/396	R/L	cGg/cTg		1		1	PAX2	HGNC	HGNC:8616	protein_coding	YES	CCDS7499.1	ENSP00000359319	Q02962		UPI000016AE71	NM_003988.3	deleterious(0)		2/11		PROSITE_profiles:PS51057,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF172,PROSITE_patterns:PS00034,Gene3D:1.10.10.10,Pfam_domain:PF00292,SMART_domains:SM00351,Superfamily_domains:SSF46689,Prints_domain:PR00027																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	100749851	100749851	G	T	1	0	0	0	0	1	0	0	0	11564	1116	39	1		1	PAX2	10	100749851	Missense_Mutation	SNP	G	C3N-00560_TP	684639	100749851	33047571	748	18687											
C10orf76	0	.	GRCh38	chr10	101939903	101939903	+	Frame_Shift_Del	DEL	C	C	-																															ggtcaccttgctagctgcttCcttccactggcctgcattgg																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1741delG	p.Glu581LysfsTer6	p.E581Kfs*6	ENST00000370033	23/26	218	164	54	204	204	0	sindel-varindel-pindel	C10orf76,frameshift_variant,p.Glu581LysfsTer6,ENST00000370033,NM_024541.2;	-	ENST00000370033	Transcript	frameshift_variant	1861/4119	1741/2070	581/689	E/X	Gaa/aa		1		-1	C10orf76	HGNC	HGNC:25788	protein_coding	YES	CCDS41563.1	ENSP00000359050	Q5T2E6		UPI000047005B	NM_024541.2			23/26		hmmpanther:PTHR13608,hmmpanther:PTHR13608:SF3,Pfam_domain:PF08427,SMART_domains:SM01158,Superfamily_domains:SSF48371																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	57	101939903	101939903	C	-	1	0	1	0	1	0	0	0	0	1770	864	30	0		0	C10orf76	10	101939903	Frame_Shift_Del	DEL	C	C3N-00560_TP	1190052	101939903	31857519	749	18688											
PSD	0	.	GRCh38	chr10	102416664	102416664	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accccacccagatcccagctCcgactcaagccccctggagc	9	4	7	21	1	1	1	1	0	0	1	3	3	3	2	7	1	3	1	7	1	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.375G>T	p.=	p.R125R	ENST00000020673	2/17	126	83	43	99	99	0	strelka-varscan-mutect	PSD,synonymous_variant,p.=,ENST00000020673,NM_002779.4;PSD,synonymous_variant,p.=,ENST00000406432,NM_001270965.1;PSD,intron_variant,,ENST00000611678,NM_001270966.1;FBXL15,upstream_gene_variant,,ENST00000224862,NM_024326.3;FBXL15,upstream_gene_variant,,ENST00000369956,;FBXL15,upstream_gene_variant,,ENST00000432590,;FBXL15,upstream_gene_variant,,ENST00000440407,;FBXL15,upstream_gene_variant,,ENST00000425536,;FBXL15,upstream_gene_variant,,ENST00000457067,;PSD,non_coding_transcript_exon_variant,,ENST00000472685,;PSD,downstream_gene_variant,,ENST00000492902,;FBXL15,upstream_gene_variant,,ENST00000481808,;PSD,upstream_gene_variant,,ENST00000488194,;	A	ENST00000020673	Transcript	synonymous_variant	902/4183	375/3075	125/1024	R	cgG/cgT		1		-1	PSD	HGNC	HGNC:9507	protein_coding	YES	CCDS31272.1	ENSP00000020673	A5PKW4		UPI0000404928	NM_002779.4			2/17		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF115																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	102416664	102416664	C	A	1	0	0	0	0	0	0	0	1	12797	842	30	2		2	PSD	10	102416664	Silent	SNP	C	C3N-00560_TP	476761	102416664	31380758	750	18689											
CFAP43	0	.	GRCh38	chr10	104207746	104207746	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaaaagatgaccctcttCacagccaatgtacaagtcac	15	9	5	12	0	3	2	2	1	1	1	3	2	3	2	2	0	2	1	2	0	5	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.814G>T	p.Glu272Ter	p.E272*	ENST00000357060	6/38	173	129	44	153	153	0	strelka-varscan-mutect	CFAP43,stop_gained,p.Glu272Ter,ENST00000357060,NM_025145.5;CFAP43,stop_gained,p.Glu202Ter,ENST00000278064,;CFAP43,stop_gained,p.Glu202Ter,ENST00000369720,;CFAP43,stop_gained,p.Glu202Ter,ENST00000369719,;	A	ENST00000357060	Transcript	stop_gained	930/5365	814/4998	272/1665	E/*	Gaa/Taa		1		-1	CFAP43	HGNC	HGNC:26684	protein_coding	YES	CCDS31281.1	ENSP00000349568	Q8NDM7		UPI0000D60FC7	NM_025145.5			6/38		hmmpanther:PTHR14885,hmmpanther:PTHR14885:SF1																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	104207746	104207746	C	A	1	0	0	0	0	0	1	0	0	3018	835	29	2		2	CFAP43	10	104207746	Nonsense_Mutation	SNP	C	C3N-00560_TP	1791082	104207746	29589676	751	18690											
CFAP58	0	.	GRCh38	chr10	104400815	104400815	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtacaaccagaggttggagGacatgagaatcctcagactt	14	8	11	8	0	1	3	1	1	0	3	2	6	2	5	2	3	2	2	2	3	3	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1951G>C	p.Asp651His	p.D651H	ENST00000369704	13/18	273	190	83	228	228	0	strelka-varscan-mutect	CFAP58,missense_variant,p.Asp651His,ENST00000369704,NM_001008723.1;	C	ENST00000369704	Transcript	missense_variant	2085/3313	1951/2619	651/872	D/H	Gac/Cac		1		1	CFAP58	HGNC	HGNC:26676	protein_coding	YES	CCDS31282.1	ENSP00000358718	Q5T655		UPI0000160405	NM_001008723.1	deleterious(0)		13/18		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF31																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	104400815	104400815	G	C	1	0	0	0	0	1	0	0	0	3027	1174	41	4		4	CFAP58	10	104400815	Missense_Mutation	SNP	G	C3N-00560_TP	193069	104400815	29396607	752	18691											
SORCS3	0	.	GRCh38	chr10	105158977	105158977	+	Missense_Mutation	SNP	G	G	T																															tagcaaggagacagccccagGacttgtggtggctacaggta																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1715G>T	p.Gly572Val	p.G572V	ENST00000369701	11/27	210	168	42	178	178	0	strelka-varscan-mutect	SORCS3,missense_variant,p.Gly572Val,ENST00000369701,NM_014978.2;SORCS3,missense_variant,p.Gly572Val,ENST00000369699,;SORCS3,missense_variant,p.Gly17Val,ENST00000393176,;	T	ENST00000369701	Transcript	missense_variant	1942/5757	1715/3669	572/1222	G/V	gGa/gTa		1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2	deleterious(0)		11/27		Gene3D:2.130.10.140,Pfam_domain:PF15902,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,SMART_domains:SM00602,Superfamily_domains:SSF110296																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	105158977	105158977	G	T	1	0	0	0	0	1	0	0	0	15254	1174	41	2		2	SORCS3	10	105158977	Missense_Mutation	SNP	G	C3N-00560_TP	758162	105158977	28638445	753	18692	398	2									
SORCS3	0	.	GRCh38	chr10	105158978	105158978	+	Silent	SNP	A	A	T																															agcaaggagacagccccaggActtgtggtggctacaggtaa																								novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1716A>T	p.=	p.G572G	ENST00000369701	11/27	209	168	41	175	175	0	strelka-varscan-mutect	SORCS3,synonymous_variant,p.=,ENST00000369701,NM_014978.2;SORCS3,synonymous_variant,p.=,ENST00000369699,;SORCS3,synonymous_variant,p.=,ENST00000393176,;	T	ENST00000369701	Transcript	synonymous_variant	1943/5757	1716/3669	572/1222	G	ggA/ggT		1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2			11/27		Gene3D:2.130.10.140,Pfam_domain:PF15902,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,SMART_domains:SM00602,Superfamily_domains:SSF110296																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	105158978	105158978	A	T	1	0	0	0	0	0	0	0	1	15254	262	10	4		4	SORCS3	10	105158978	Silent	SNP	A	C3N-00560_TP	1	105158978	28638444	754	18693	398	2									
SORCS3	0	.	GRCh38	chr10	105262417	105262417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgagccaaagtgaaaacgCccccaaaatcacactcagtg	16	5	8	12	1	2	2	2	2	0	0	2	2	2	2	3	0	2	0	3	0	5	0	rs759046110		C3N-00560_TP	C3N-00560_NB	C	C																c.3530C>G	p.Ala1177Gly	p.A1177G	ENST00000369701	26/27	223	173	50	224	224	0	strelka-varscan-mutect	SORCS3,missense_variant,p.Ala1177Gly,ENST00000369701,NM_014978.2;SORCS3,missense_variant,p.Ala1177Gly,ENST00000369699,;	G	ENST00000369701	Transcript	missense_variant	3757/5757	3530/3669	1177/1222	A/G	gCc/gGc	rs759046110,COSM3952795	1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2	tolerated(0.15)		26/27		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs759046110	.												G	3	3	57	105262417	105262417	C	G	1	0	0	0	0	1	0	0	0	15254	739	26	4		4	SORCS3	10	105262417	Missense_Mutation	SNP	C	C3N-00560_TP	103439	105262417	28535005	755	18694											
GPAM	0	.	GRCh38	chr10	112160750	112160750	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacaatttcccagcagcTgtatggcatgcattactaca	12	11	7	11	0	0	1	0	1	0	0	1	1	1	1	1	1	5	5	1	1	4	4	rs750371327		C3N-00560_TP	C3N-00560_NB	T	T																c.1613A>T	p.Gln538Leu	p.Q538L	ENST00000348367	16/22	512	376	136	481	481	0	strelka-varscan-mutect	GPAM,missense_variant,p.Gln538Leu,ENST00000348367,NM_001244949.1,NM_020918.5;GPAM,missense_variant,p.Gln538Leu,ENST00000369425,;	A	ENST00000348367	Transcript	missense_variant	1811/6371	1613/2487	538/828	Q/L	cAg/cTg	rs750371327	1		-1	GPAM	HGNC	HGNC:24865	protein_coding	YES	CCDS7570.1	ENSP00000265276	Q9HCL2		UPI000004AC02	NM_001244949.1,NM_020918.5	tolerated(0.22)		16/22		hmmpanther:PTHR12563,hmmpanther:PTHR12563:SF16,PIRSF_domain:PIRSF500064,PIRSF_domain:PIRSF000437																	MODERATE	1	SNV	1			1										PASS		rs750371327	.												A	3	1	57	112160750	112160750	T	A	1	0	0	0	0	1	0	0	0	6484	1580	55	4		4	GPAM	10	112160750	Missense_Mutation	SNP	T	C3N-00560_TP	6898333	112160750	21636672	756	18695											
HABP2	0	.	GRCh38	chr10	113575974	113575974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttcacatgcagctgcctgGctcctttctctgggaataag	7	12	9	13	0	2	0	1	0	1	0	4	1	3	1	3	2	3	3	3	2	2	3			C3N-00560_TP	C3N-00560_NB	G	G																c.301G>T	p.Ala101Ser	p.A101S	ENST00000351270	4/13	172	125	47	151	151	0	strelka-varscan-mutect	HABP2,missense_variant,p.Ala101Ser,ENST00000351270,NM_004132.3;HABP2,missense_variant,p.Ala75Ser,ENST00000542051,NM_001177660.1;	T	ENST00000351270	Transcript	missense_variant	397/3009	301/1683	101/560	A/S	Gct/Tct	COSM1739635	1		1	HABP2	HGNC	HGNC:4798	protein_coding	YES	CCDS7577.1	ENSP00000277903	Q14520		UPI0000049411	NM_004132.3	tolerated(0.61)		4/13		PROSITE_profiles:PS50026,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Pfam_domain:PF00008,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	57	113575974	113575974	G	T	1	0	0	0	0	1	0	0	0	6820	1203	42	2		2	HABP2	10	113575974	Missense_Mutation	SNP	G	C3N-00560_TP	1415224	113575974	20221448	757	18696											
PNLIP	0	.	GRCh38	chr10	116548391	116548391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agattcatcaagcatcagtgGctccaatttcaaaacaaata	17	10	5	9	0	4	1	4	0	0	1	5	1	5	1	1	1	2	2	1	1	6	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.233G>T	p.Gly78Val	p.G78V	ENST00000369221	4/13	100	66	34	100	100	0	strelka-varscan-mutect	PNLIP,missense_variant,p.Gly78Val,ENST00000369221,NM_000936.2;PNLIP,non_coding_transcript_exon_variant,,ENST00000470562,;	T	ENST00000369221	Transcript	missense_variant	261/1483	233/1398	78/465	G/V	gGc/gTc		1		1	PNLIP	HGNC	HGNC:9155	protein_coding	YES	CCDS7594.1	ENSP00000358223	P16233		UPI000004F1A0	NM_000936.2	tolerated(0.06)		4/13		Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Prints_domain:PR00821,Prints_domain:PR00823,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF85,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		rs1274565673	.												T	3	4	57	116548391	116548391	G	T	1	0	0	0	0	1	0	0	0	12257	1203	42	2		2	PNLIP	10	116548391	Missense_Mutation	SNP	G	C3N-00560_TP	2972417	116548391	17249031	758	18697											
HSPA12A	0	.	GRCh38	chr10	116698641	116698641	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actatcagtcctaccttcagCgcctgctccttaaagtactg	9	12	6	14	1	2	0	2	0	0	0	4	0	4	0	4	0	4	2	4	0	5	5	rs545779576		C3N-00560_TP	C3N-00560_NB	C	C																c.540G>T	p.=	p.A180A	ENST00000369209	5/12	130	82	48	67	67	0	strelka-varscan-mutect	HSPA12A,synonymous_variant,p.=,ENST00000635765,;HSPA12A,synonymous_variant,p.=,ENST00000369209,NM_025015.2;HSPA12A,downstream_gene_variant,,ENST00000468935,;HSPA12A,non_coding_transcript_exon_variant,,ENST00000481291,;	A	ENST00000369209	Transcript	synonymous_variant	645/5722	540/2028	180/675	A	gcG/gcT	rs545779576,COSM1474392	1		-1	HSPA12A	HGNC	HGNC:19022	protein_coding	YES	CCDS41569.1	ENSP00000358211	O43301		UPI00001B3DE3	NM_025015.2			5/12		Gene3D:3.30.420.40,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF46,Superfamily_domains:SSF53067											0,1						LOW	1	SNV	1		0,1	1										PASS		rs545779576	.												A	2	1	57	116698641	116698641	C	A	1	0	0	0	0	0	0	0	1	7300	755	27	1		1	HSPA12A	10	116698641	Silent	SNP	C	C3N-00560_TP	150250	116698641	17098781	759	18698											
EIF3A	0	.	GRCh38	chr10	119036057	119036057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acttaacgtcgtactgtggtCcatccatcttcatcagtctc	8	14	6	13	2	4	0	2	0	2	0	8	0	6	0	2	1	2	1	2	1	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.4131G>T	p.Trp1377Cys	p.W1377C	ENST00000369144	22/22	249	177	72	171	171	0	varscan-mutect	EIF3A,missense_variant,p.Trp1377Cys,ENST00000369144,NM_003750.2;EIF3A,missense_variant,p.Trp1377Cys,ENST00000541549,;NANOS1,downstream_gene_variant,,ENST00000425699,NM_199461.2;NANOS1,downstream_gene_variant,,ENST00000340087,;	A	ENST00000369144	Transcript	missense_variant	4259/6646	4131/4149	1377/1382	W/C	tgG/tgT		1		-1	EIF3A	HGNC	HGNC:3271	protein_coding	YES	CCDS7608.1	ENSP00000358140	Q14152		UPI000012D311	NM_003750.2	deleterious_low_confidence(0)		22/22																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	119036057	119036057	C	A	1	0	0	0	0	1	0	0	0	4846	856	30	2		2	EIF3A	10	119036057	Missense_Mutation	SNP	C	C3N-00560_TP	2337416	119036057	14761365	760	18699											
FGFR2	0	.	GRCh38	chr10	121551370	121551370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggcattgggttcccccCggctgggcagcgaaacttga	6	9	15	11	2	0	1	0	1	0	0	1	2	1	1	3	5	2	5	3	5	1	4	rs200766273		C3N-00560_TP	C3N-00560_NB	C	C																c.544G>T	p.Gly182Trp	p.G182W	ENST00000457416	5/18	413	296	117	304	303	1	strelka-varscan-mutect	FGFR2,missense_variant,p.Gly93Trp,ENST00000613048,NM_023029.2;FGFR2,missense_variant,p.Gly182Trp,ENST00000358487,NM_001320658.1,NM_000141.4;FGFR2,missense_variant,p.Gly182Trp,ENST00000369061,NM_001144914.1;FGFR2,missense_variant,p.Gly93Trp,ENST00000357555,NM_001144915.1;FGFR2,missense_variant,p.Gly67Trp,ENST00000356226,NM_001144918.1,NM_001144916.1;FGFR2,missense_variant,p.Gly182Trp,ENST00000369060,NM_001144917.1;FGFR2,missense_variant,p.Gly182Trp,ENST00000457416,NM_022970.3;FGFR2,missense_variant,p.Gly67Trp,ENST00000369059,;FGFR2,missense_variant,p.Gly93Trp,ENST00000360144,NM_001144919.1;FGFR2,missense_variant,p.Gly182Trp,ENST00000369058,;FGFR2,missense_variant,p.Gly182Trp,ENST00000369056,NM_001144913.1;FGFR2,missense_variant,p.Gly93Trp,ENST00000336553,;FGFR2,missense_variant,p.Gly182Trp,ENST00000351936,;FGFR2,missense_variant,p.Gly182Trp,ENST00000346997,;FGFR2,missense_variant,p.Gly182Trp,ENST00000359354,;FGFR2,non_coding_transcript_exon_variant,,ENST00000490349,;FGFR2,missense_variant,p.Gly67Trp,ENST00000604236,;	A	ENST00000457416	Transcript	missense_variant	1136/3061	544/2469	182/822	G/W	Ggg/Tgg	rs200766273	1		-1	FGFR2	HGNC	HGNC:3689	protein_coding	YES	CCDS7620.2	ENSP00000410294	P21802		UPI000002A99A	NM_022970.3	deleterious(0.02)		5/18		PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF130,Gene3D:2.60.40.10,Pfam_domain:PF07679,PIRSF_domain:PIRSF000628,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs200766273	.												A	3	1	57	121551370	121551370	C	A	1	0	0	0	0	1	0	0	0	5730	652	23	1		1	FGFR2	10	121551370	Missense_Mutation	SNP	C	C3N-00560_TP	2515313	121551370	12246052	761	18700											
TACC2	0	.	GRCh38	chr10	122085809	122085809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcagaaaatggagtgctgGgccacttcggatgcagagtc	11	7	14	9	1	0	2	0	0	0	2	2	4	0	4	1	3	3	3	1	3	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3309G>T	p.Trp1103Cys	p.W1103C	ENST00000369005	4/23	121	80	41	128	128	0	strelka-varscan-mutect	TACC2,missense_variant,p.Trp1103Cys,ENST00000369005,NM_206862.3;TACC2,missense_variant,p.Trp1103Cys,ENST00000334433,;TACC2,missense_variant,p.Trp1103Cys,ENST00000515273,NM_001291877.1;TACC2,missense_variant,p.Trp1103Cys,ENST00000453444,;TACC2,missense_variant,p.Trp1103Cys,ENST00000515603,NM_001291876.1;TACC2,intron_variant,,ENST00000513429,NM_206861.2;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;	T	ENST00000369005	Transcript	missense_variant	3649/9673	3309/8847	1103/2948	W/C	tgG/tgT		1		1	TACC2	HGNC	HGNC:11523	protein_coding	YES	CCDS7626.1	ENSP00000358001	O95359		UPI0000246F6B	NM_206862.3	deleterious(0)		4/23		hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	122085809	122085809	G	T	1	0	0	0	0	1	0	0	0	15898	1241	43	2		2	TACC2	10	122085809	Missense_Mutation	SNP	G	C3N-00560_TP	534439	122085809	11711613	762	18701											
DMBT1	0	.	GRCh38	chr10	122598954	122598955	+	Frame_Shift_Ins	INS	-	-	T																															atgtcagccccaggaaatgcINSccggtttggtcagggctcag																								novel		C3N-00560_TP	C3N-00560_NB	-	-																c.3137_3138insT	p.Arg1047ProfsTer13	p.R1047Pfs*13	ENST00000368909	26/53	621	444	177	565	565	0	sindel-varindel	DMBT1,frameshift_variant,p.Arg1047ProfsTer13,ENST00000338354,NM_001320644.1;DMBT1,frameshift_variant,p.Arg1047ProfsTer13,ENST00000368909,NM_001320644.1,NM_007329.2;DMBT1,frameshift_variant,p.Arg1047ProfsTer13,ENST00000619379,NM_001320644.1;DMBT1,frameshift_variant,p.Arg1037ProfsTer13,ENST00000344338,;DMBT1,frameshift_variant,p.Arg1037ProfsTer13,ENST00000368955,NM_017579.2;DMBT1,frameshift_variant,p.Arg548ProfsTer13,ENST00000330163,;DMBT1,frameshift_variant,p.Arg548ProfsTer13,ENST00000368956,NM_004406.2;DMBT1,intron_variant,,ENST00000359586,;	T	ENST00000368909	Transcript	frameshift_variant	3243-3244/7686	3137-3138/7242	1046/2413	A/AX	gcc/gcTc		1		1	DMBT1	HGNC	HGNC:2926	protein_coding	YES	CCDS44490.1	ENSP00000357905	Q9UGM3		UPI000047021C	NM_001320644.1,NM_007329.2			26/53		Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF22,SMART_domains:SM00202,Superfamily_domains:SSF56487																	HIGH	1	insertion	5			1										PASS		.	.												T	7	5	57	122598954	122598954	-	T	1	0	1	1	0	0	0	0	0	4384	739	26	0		0	DMBT1	10	122598954	Frame_Shift_Ins	INS	-	C3N-00560_TP	513145	122598954	11198468	763	18702											
CTBP2	0	.	GRCh38	chr10	125026447	125026447	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggggtgggagagctgtacCcggagttggaggggaagtgt	9	7	21	4	1	0	1	0	0	0	1	0	5	0	4	1	7	2	3	1	7	3	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1313G>C	p.Gly438Ala	p.G438A	ENST00000309035	1/9	67	51	16	59	59	0	strelka-varscan-mutect	CTBP2,missense_variant,p.Gly438Ala,ENST00000309035,NM_022802.2;CTBP2,intron_variant,,ENST00000337195,NM_001329.2;CTBP2,intron_variant,,ENST00000411419,NM_001083914.1;CTBP2,intron_variant,,ENST00000494626,NM_001290214.1;CTBP2,intron_variant,,ENST00000531469,NM_001290215.1;CTBP2,intron_variant,,ENST00000460976,;CTBP2,intron_variant,,ENST00000493552,;	G	ENST00000309035	Transcript	missense_variant	1444/3669	1313/2958	438/985	G/A	gGg/gCg		1		-1	CTBP2	HGNC	HGNC:2495	protein_coding	YES	CCDS7644.1	ENSP00000311825	P56545		UPI000013EE11	NM_022802.2	tolerated_low_confidence(0.11)		1/9																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	125026447	125026447	C	G	1	0	0	0	0	1	0	0	0	3804	623	22	4		4	CTBP2	10	125026447	Missense_Mutation	SNP	C	C3N-00560_TP	2427493	125026447	8770975	764	18703											
DPYSL4	0	.	GRCh38	chr10	132192712	132192712	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaagaccattgacgcccaCggcctgatggtccttcctgg	8	9	10	14	2	1	3	1	2	0	1	3	3	3	3	5	3	0	0	5	3	1	2	rs749104221		C3N-00560_TP	C3N-00560_NB	C	C																c.183C>G	p.His61Gln	p.H61Q	ENST00000338492	3/14	166	118	48	112	112	0	strelka-varscan-mutect	DPYSL4,missense_variant,p.His61Gln,ENST00000338492,NM_006426.2;DPYSL4,upstream_gene_variant,,ENST00000368627,;DPYSL4,non_coding_transcript_exon_variant,,ENST00000493882,;DPYSL4,non_coding_transcript_exon_variant,,ENST00000493927,;	G	ENST00000338492	Transcript	missense_variant	347/2729	183/1719	61/572	H/Q	caC/caG	rs749104221	1		1	DPYSL4	HGNC	HGNC:3016	protein_coding	YES	CCDS7665.1	ENSP00000339850	O14531		UPI000013DC70	NM_006426.2	tolerated(0.6)		3/14		Gene3D:2.30.40.10,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF55,Superfamily_domains:SSF51338,TIGRFAM_domain:TIGR02033																	MODERATE	1	SNV	1			1										PASS		rs749104221	.												G	3	3	57	132192712	132192712	C	G	1	0	0	0	0	1	0	0	0	4564	535	19	4		4	DPYSL4	10	132192712	Missense_Mutation	SNP	C	C3N-00560_TP	7166265	132192712	1604710	765	18704											
INPP5A	0	.	GRCh38	chr10	132780889	132780889	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcacctatgaccacattgGgcccaacgtctgcatgggag	9	9	11	12	1	2	1	1	1	1	0	2	2	2	2	3	2	2	1	3	2	2	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1130G>C	p.Gly377Ala	p.G377A	ENST00000368594	14/16	276	210	66	240	239	1	strelka-varscan-mutect	INPP5A,missense_variant,p.Gly377Ala,ENST00000368594,NM_005539.3;INPP5A,missense_variant,p.Gly59Ala,ENST00000445580,;NKX6-2,downstream_gene_variant,,ENST00000368592,NM_177400.2;INPP5A,downstream_gene_variant,,ENST00000368593,;INPP5A,downstream_gene_variant,,ENST00000342652,;NKX6-2,downstream_gene_variant,,ENST00000441365,;	C	ENST00000368594	Transcript	missense_variant	1407/2967	1130/1239	377/412	G/A	gGg/gCg		1		1	INPP5A	HGNC	HGNC:6076	protein_coding	YES	CCDS7669.2	ENSP00000357583	Q14642		UPI000012D085	NM_005539.3	deleterious(0)		14/16		hmmpanther:PTHR12997,hmmpanther:PTHR12997:SF9,Gene3D:3.60.10.10,Pfam_domain:PF03372,SMART_domains:SM00128,Superfamily_domains:SSF56219																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	132780889	132780889	G	C	1	0	0	0	0	1	0	0	0	7657	1232	43	4		4	INPP5A	10	132780889	Missense_Mutation	SNP	G	C3N-00560_TP	588177	132780889	1016533	766	18705											
MUC6	0	.	GRCh38	chr11	1018566	1018566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagggacgggactccccGccgtaggcggggagtgtgtg	6	6	20	9	4	0	0	0	0	0	0	1	4	1	4	3	6	0	1	3	6	2	1	rs771673875		C3N-00560_TP	C3N-00560_NB	G	G																c.4235C>A	p.Ala1412Glu	p.A1412E	ENST00000421673	31/33	148	80	68	178	178	0	strelka-varscan-mutect	MUC6,missense_variant,p.Ala1412Glu,ENST00000421673,NM_005961.2;MUC6,upstream_gene_variant,,ENST00000532016,;MUC6,downstream_gene_variant,,ENST00000527242,;	T	ENST00000421673	Transcript	missense_variant	4286/8006	4235/7320	1412/2439	A/E	gCg/gAg	rs771673875	1		-1	MUC6	HGNC	HGNC:7517	protein_coding	YES	CCDS44513.1	ENSP00000406861	Q6W4X9		UPI0000251DBE	NM_005961.2	tolerated_low_confidence(0.6)		31/33		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs771673875	.												T	3	4	57	1018566	1018566	G	T	1	0	0	0	0	1	0	0	0	9980	1087	38	1		1	MUC6	11	1018566	Missense_Mutation	SNP	G	C3N-00560_TP		1018566	134068056	767	18706											
MUC5AC	0	.	GRCh38	chr11	1188846	1188846	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctgaggagatcaccaggctCcagtgccgagccaagagcca	11	4	12	14	1	1	3	1	1	0	2	2	5	2	3	6	2	3	1	6	2	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.10701C>G	p.=	p.L3567L	ENST00000621226	31/49	72	38	34	58	58	0	strelka-varscan-mutect	MUC5AC,synonymous_variant,p.=,ENST00000621226,NM_001304359.1;	G	ENST00000621226	Transcript	synonymous_variant	10748/17448	10701/16965	3567/5654	L	ctC/ctG		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1			31/49		Pfam_domain:PF13330																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	57	1188846	1188846	C	G	1	0	0	0	0	0	0	0	1	9978	842	30	4		4	MUC5AC	11	1188846	Silent	SNP	C	C3N-00560_TP	170280	1188846	133897776	768	18707											
IGF2	0	.	GRCh38	chr11	2133586	2133586	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtagcacagtacgtctccagGagggccaggtcacagctgcg	9	6	14	12	2	2	0	1	0	1	0	3	1	2	1	2	3	4	4	2	3	2	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.405C>A	p.=	p.L135L	ENST00000434045	4/5	158	82	76	204	204	0	strelka-varscan-mutect	IGF2,synonymous_variant,p.=,ENST00000416167,NM_000612.5;IGF2,synonymous_variant,p.=,ENST00000381406,;IGF2,synonymous_variant,p.=,ENST00000381395,NM_001007139.5,NM_001291861.2;IGF2,synonymous_variant,p.=,ENST00000434045,NM_001127598.2;IGF2,synonymous_variant,p.=,ENST00000381389,NM_001291862.2;IGF2,synonymous_variant,p.=,ENST00000381392,;IGF2,synonymous_variant,p.=,ENST00000418738,;MIR483,downstream_gene_variant,,ENST00000385070,;AC132217.4,upstream_gene_variant,,ENST00000430034,;INS-IGF2,3_prime_UTR_variant,,ENST00000356578,;	T	ENST00000434045	Transcript	synonymous_variant	790/1583	405/711	135/236	L	ctC/ctA		1		-1	IGF2	HGNC	HGNC:5466	protein_coding	YES	CCDS44517.1	ENSP00000391826	P01344		UPI0001751501	NM_001127598.2			4/5		Gene3D:1.10.100.10,Pfam_domain:PF00049,Prints_domain:PR00276,Prints_domain:PR02002,Prints_domain:PR02006,PROSITE_patterns:PS00262,hmmpanther:PTHR11454,hmmpanther:PTHR11454:SF10,SMART_domains:SM00078,Superfamily_domains:SSF56994																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	2133586	2133586	G	T	1	0	0	0	0	0	0	0	1	7478	1161	41	2		2	IGF2	11	2133586	Silent	SNP	G	C3N-00560_TP	944740	2133586	132953036	769	18708											
OR51T1	0	.	GRCh38	chr11	4882592	4882593	+	Frame_Shift_Del	DEL	GG	GG	-																															cgtactgttctgggcattgtGgcccgaaagaagcaacaaaa																								novel		C3N-00560_TP	C3N-00560_NB	GG	GG																c.774_775delGG	p.Ala259ProfsTer44	p.A259Pfs*44	ENST00000380378	1/1	138	101	37	215	215	0	sindel-varindel-pindel	OR51T1,frameshift_variant,p.Ala259ProfsTer44,ENST00000380378,NM_001004759.1;OR51T1,frameshift_variant,p.Ala232ProfsTer44,ENST00000322049,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	-	ENST00000380378	Transcript	frameshift_variant	774-775/1065	774-775/1065	258-259/354	VA/VX	gtGGcc/gtcc		1		1	OR51T1	HGNC	HGNC:15205	protein_coding	YES	CCDS31363.1	ENSP00000369738		A0A0C4DFX5	UPI000015F1FF	NM_001004759.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF6,Superfamily_domains:SSF81321																	HIGH		deletion				1										PASS		.	.												-	7	5	57	4882592	4882592	GG	-	1	0	1	0	1	0	0	0	0	11180	1335	47	0		0	OR51T1	11	4882592	Frame_Shift_Del	DEL	GG	C3N-00560_TP	2749006	4882592	130204030	770	18709											
OR51A4	0	.	GRCh38	chr11	4946993	4946993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctagaatagcaataagataCatgctgcagatggggataga	16	8	11	6	0	0	4	0	0	0	4	0	5	0	5	1	2	4	3	1	2	7	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.108G>A	p.Met36Ile	p.M36I	ENST00000380373	1/1	206	166	40	246	246	0	strelka-varscan-mutect	OR51A4,missense_variant,p.Met36Ile,ENST00000380373,NM_001005329.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	T	ENST00000380373	Transcript	missense_variant	108/942	108/942	36/313	M/I	atG/atA		1		-1	OR51A4	HGNC	HGNC:14795	protein_coding	YES	CCDS31367.1	ENSP00000369731	Q8NGJ6		UPI0000047195	NM_001005329.1	tolerated(0.24)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF168,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE		SNV				1										PASS		.	.												T	3	4	57	4946993	4946993	C	T	1	0	0	0	0	1	0	0	0	11162	478	17	3		3	OR51A4	11	4946993	Missense_Mutation	SNP	C	C3N-00560_TP	64401	4946993	130139629	771	18710											
OR51A2	0	.	GRCh38	chr11	4955606	4955606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctagaatagcaataagataCatgctgcagatggggataga	16	8	11	6	0	0	4	0	0	0	4	0	5	0	5	1	2	4	3	1	2	7	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.108G>A	p.Met36Ile	p.M36I	ENST00000380371	1/1	16	11	5	20	20	0	strelka-varscan-mutect	OR51A2,missense_variant,p.Met36Ile,ENST00000380371,NM_001004748.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	T	ENST00000380371	Transcript	missense_variant	108/942	108/942	36/313	M/I	atG/atA		1		-1	OR51A2	HGNC	HGNC:14764	protein_coding	YES	CCDS31368.1	ENSP00000369729	Q8NGJ7	A0A126GWD5	UPI0000041B7B	NM_001004748.1	tolerated(0.26)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF168,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												T	3	4	57	4955606	4955606	C	T	1	0	0	0	0	1	0	0	0	11161	478	17	3		3	OR51A2	11	4955606	Missense_Mutation	SNP	C	C3N-00560_TP	8613	4955606	130131016	772	18711											
OR51B5	0	.	GRCh38	chr11	5342936	5342936	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagactacaagcacagctgGgtacagtcggttgaaggtgg	13	7	14	7	1	0	2	0	1	0	1	1	2	0	2	0	4	4	4	0	4	5	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.589C>G	p.Pro197Ala	p.P197A	ENST00000300773	1/1	125	80	45	154	154	0	strelka-varscan-mutect	OR51B5,missense_variant,p.Pro197Ala,ENST00000300773,NM_001005567.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;AC104389.28,downstream_gene_variant,,ENST00000418729,;	C	ENST00000300773	Transcript	missense_variant	589/939	589/939	197/312	P/A	Cca/Gca		1		-1	OR51B5	HGNC	HGNC:19599	protein_coding	YES	CCDS31378.1	ENSP00000300773	Q9H339		UPI000013E697	NM_001005567.2	tolerated(0.36)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF76,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												C	3	2	57	5342936	5342936	G	C	1	0	0	0	0	1	0	0	0	11165	1232	43	4		4	OR51B5	11	5342936	Missense_Mutation	SNP	G	C3N-00560_TP	387330	5342936	129743686	773	18712											
OR52N2	0	.	GRCh38	chr11	5820497	5820497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgcctcatcagccatgaGgaggccctgcaccggcccat	8	7	10	16	1	3	1	2	1	1	0	3	2	3	2	5	3	3	1	5	3	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.162G>C	p.Glu54Asp	p.E54D	ENST00000317037	1/1	98	47	51	96	96	0	strelka-varscan-mutect	OR52N2,missense_variant,p.Glu54Asp,ENST00000317037,NM_001005174.1;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	C	ENST00000317037	Transcript	missense_variant	184/1035	162/966	54/321	E/D	gaG/gaC		1		1	OR52N2	HGNC	HGNC:15228	protein_coding	YES	CCDS31399.1	ENSP00000322801	Q8NGI0		UPI0000041BEB	NM_001005174.1	tolerated(0.1)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF185,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs895070476	.												C	3	2	57	5820497	5820497	G	C	1	0	0	0	0	1	0	0	0	11201	991	35	4		4	OR52N2	11	5820497	Missense_Mutation	SNP	G	C3N-00560_TP	477561	5820497	129266125	774	18713											
OR6A2	0	.	GRCh38	chr11	6795192	6795192	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgatgttggggccacagtAagagaggccagaaataagaa	16	6	14	5	0	0	4	0	1	0	3	0	6	0	4	2	3	0	2	2	3	4	3	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.517T>A	p.Tyr173Asn	p.Y173N	ENST00000332601	1/1	364	259	105	267	267	0	strelka-varscan-mutect	OR6A2,missense_variant,p.Tyr173Asn,ENST00000332601,NM_003696.2;	T	ENST00000332601	Transcript	missense_variant	592/1157	517/984	173/327	Y/N	Tac/Aac		1		-1	OR6A2	HGNC	HGNC:15301	protein_coding	YES	CCDS7772.1	ENSP00000330384	O95222	A0A126GW91	UPI0000061E92	NM_003696.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF234,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs768106044	.												T	3	4	57	6795192	6795192	A	T	1	0	0	0	0	1	0	0	0	11254	362	13	4		4	OR6A2	11	6795192	Missense_Mutation	SNP	A	C3N-00560_TP	974695	6795192	128291430	775	18714											
DKK3	0	.	GRCh38	chr11	11998719	11998719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttctgccttcttcgtCtcccacagatgtgataactg	6	14	7	14	1	3	2	0	1	3	1	6	2	4	2	3	0	2	1	3	0	1	4	rs765767133		C3N-00560_TP	C3N-00560_NB	C	C																c.412G>T	p.Asp138Tyr	p.D138Y	ENST00000396505	4/8	417	286	131	277	277	0	strelka-varscan-mutect	DKK3,missense_variant,p.Asp138Tyr,ENST00000396505,NM_015881.5;DKK3,missense_variant,p.Asp138Tyr,ENST00000326932,NM_001018057.1,NM_013253.4;DKK3,missense_variant,p.Asp138Tyr,ENST00000525493,;DKK3,missense_variant,p.Asp138Tyr,ENST00000533813,;DKK3,intron_variant,,ENST00000534511,;DKK3,intron_variant,,ENST00000529338,;DKK3,non_coding_transcript_exon_variant,,ENST00000526218,;DKK3,non_coding_transcript_exon_variant,,ENST00000532873,;DKK3,intron_variant,,ENST00000527132,;DKK3,downstream_gene_variant,,ENST00000533900,;DKK3,downstream_gene_variant,,ENST00000530694,;DKK3,upstream_gene_variant,,ENST00000528188,;DKK3,non_coding_transcript_exon_variant,,ENST00000531309,;DKK3,downstream_gene_variant,,ENST00000534479,;	A	ENST00000396505	Transcript	missense_variant	651/2650	412/1053	138/350	D/Y	Gac/Tac	rs765767133	1		-1	DKK3	HGNC	HGNC:2893	protein_coding	YES	CCDS7808.1	ENSP00000379762	Q9UBP4		UPI00001694CA	NM_015881.5	deleterious(0.01)		4/8		hmmpanther:PTHR12113:SF8,hmmpanther:PTHR12113																	MODERATE	1	SNV	1			1										PASS		rs765767133	.												A	3	1	57	11998719	11998719	C	A	1	0	0	0	0	1	0	0	0	4352	913	32	2		2	DKK3	11	11998719	Missense_Mutation	SNP	C	C3N-00560_TP	5203527	11998719	123087903	776	18715											
RASSF10	0	.	GRCh38	chr11	13010784	13010784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcctttacattgggctgcGgctcaacacggacctagagg	9	8	12	12	2	1	1	1	0	0	1	1	2	1	2	2	4	4	2	2	4	3	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1208G>T	p.Arg403Leu	p.R403L	ENST00000529419	1/1	248	161	87	191	190	1	strelka-varscan-mutect	RASSF10,missense_variant,p.Arg403Leu,ENST00000529419,NM_001080521.2;CTC-497E21.3,upstream_gene_variant,,ENST00000533002,;	T	ENST00000529419	Transcript	missense_variant	1208/2530	1208/1524	403/507	R/L	cGg/cTg		1		1	RASSF10	HGNC	HGNC:33984	protein_coding	YES		ENSP00000485526	A6NK89		UPI0001722D5E	NM_001080521.2	deleterious(0)		1/1		hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF13																	MODERATE		SNV				1										PASS		rs1384812045	.												T	3	4	57	13010784	13010784	G	T	1	0	0	0	0	1	0	0	0	13246	1116	39	1		1	RASSF10	11	13010784	Missense_Mutation	SNP	G	C3N-00560_TP	1012065	13010784	122075838	777	18716											
PLEKHA7	0	.	GRCh38	chr11	16817018	16817018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgctccggccctggtCggtgaactctggggagccaa	5	8	14	14	2	1	1	0	1	1	0	4	2	3	2	4	5	3	2	4	5	2	0	rs775610890		C3N-00560_TP	C3N-00560_NB	C	C																c.1648G>T	p.Asp550Tyr	p.D550Y	ENST00000355661	11/23	72	44	28	61	61	0	strelka-varscan-mutect	PLEKHA7,missense_variant,p.Asp550Tyr,ENST00000355661,NM_175058.4;PLEKHA7,missense_variant,p.Asp550Tyr,ENST00000531066,;PLEKHA7,missense_variant,p.Asp181Tyr,ENST00000530489,;PLEKHA7,missense_variant,p.Asp449Tyr,ENST00000637162,;PLEKHA7,intron_variant,,ENST00000532079,;PLEKHA7,upstream_gene_variant,,ENST00000636113,;PLEKHA7,upstream_gene_variant,,ENST00000525581,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000525781,;PLEKHA7,upstream_gene_variant,,ENST00000525049,;	A	ENST00000355661	Transcript	missense_variant	1659/4980	1648/3366	550/1121	D/Y	Gac/Tac	rs775610890,COSM5248496	1		-1	PLEKHA7	HGNC	HGNC:27049	protein_coding	YES	CCDS31434.1	ENSP00000347883	Q6IQ23		UPI0000456498	NM_175058.4	tolerated(0.13)		11/23		hmmpanther:PTHR12752:SF4,hmmpanther:PTHR12752											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs775610890	.												A	3	1	57	16817018	16817018	C	A	1	0	0	0	0	1	0	0	0	12154	884	31	1		1	PLEKHA7	11	16817018	Missense_Mutation	SNP	C	C3N-00560_TP	3806234	16817018	118269604	778	18717											
SPTY2D1	0	.	GRCh38	chr11	18614719	18614719	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actaactgtttgcccaggtcCcaagctgctcactggtcttc	7	12	8	14	0	2	0	1	0	1	0	4	0	3	0	2	2	4	3	2	2	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1555G>T	p.Gly519Ter	p.G519*	ENST00000336349	3/6	142	92	50	104	104	0	strelka-varscan-mutect	SPTY2D1,stop_gained,p.Gly519Ter,ENST00000336349,NM_194285.2;SPTY2D1-AS1,downstream_gene_variant,,ENST00000636011,;SPTY2D1,downstream_gene_variant,,ENST00000543776,;SPTY2D1,non_coding_transcript_exon_variant,,ENST00000536336,;SPTY2D1-AS1,downstream_gene_variant,,ENST00000501599,;	A	ENST00000336349	Transcript	stop_gained	1791/5754	1555/2058	519/685	G/*	Gga/Tga		1		-1	SPTY2D1	HGNC	HGNC:26818	protein_coding	YES	CCDS31441.1	ENSP00000337991	Q68D10		UPI00001607F0	NM_194285.2			3/6		hmmpanther:PTHR22691,hmmpanther:PTHR22691:SF8																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	18614719	18614719	C	A	1	0	0	0	0	0	1	0	0	15484	632	22	2		2	SPTY2D1	11	18614719	Nonsense_Mutation	SNP	C	C3N-00560_TP	1797701	18614719	116471903	779	18718											
SLC17A6	0	.	GRCh38	chr11	22370147	22370147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttattgcttattagtcagCcagcatattttgaggaagtc	11	16	8	6	0	1	1	1	1	0	0	2	2	1	2	1	1	3	2	1	1	5	8	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1000C>A	p.Pro334Thr	p.P334T	ENST00000263160	8/12	137	102	35	213	213	0	strelka-varscan-mutect	SLC17A6,missense_variant,p.Pro334Thr,ENST00000263160,NM_020346.2;	A	ENST00000263160	Transcript	missense_variant	1437/3949	1000/1749	334/582	P/T	Cca/Aca		1		1	SLC17A6	HGNC	HGNC:16703	protein_coding	YES	CCDS7856.1	ENSP00000263160	Q9P2U8		UPI0000073F14	NM_020346.2	deleterious(0.01)		8/12		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF201,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	22370147	22370147	C	A	1	0	0	0	0	1	0	0	0	14686	739	26	2		2	SLC17A6	11	22370147	Missense_Mutation	SNP	C	C3N-00560_TP	3755428	22370147	112716475	780	18719											
KCNA4	0	.	GRCh38	chr11	30012504	30012504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggtggtgggagccccCaccagaacccccgctacctt	6	7	13	15	1	0	1	0	0	0	1	0	2	0	2	6	4	3	1	6	4	2	2			C3N-00560_TP	C3N-00560_NB	C	C																c.175G>T	p.Gly59Trp	p.G59W	ENST00000328224	2/2	164	125	39	176	176	0	strelka-varscan-mutect	KCNA4,missense_variant,p.Gly59Trp,ENST00000328224,NM_002233.3;KCNA4,downstream_gene_variant,,ENST00000526518,;	A	ENST00000328224	Transcript	missense_variant	1409/4172	175/1962	59/653	G/W	Ggg/Tgg	COSM3670751	1		-1	KCNA4	HGNC	HGNC:6222	protein_coding	YES	CCDS41629.1	ENSP00000328511	P22459		UPI00001649FF	NM_002233.3	deleterious_low_confidence(0)		2/2		Gene3D:1kn7A00,Pfam_domain:PF07941,Prints_domain:PR01511,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	57	30012504	30012504	C	A	1	0	0	0	0	1	0	0	0	7921	594	21	2		2	KCNA4	11	30012504	Missense_Mutation	SNP	C	C3N-00560_TP	7642357	30012504	105074118	781	18720											
KIAA1549L	0	.	GRCh38	chr11	33542675	33542675	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagcttccagatggaaGcccctcatggtcaatgttgg	8	12	10	11	0	4	1	3	0	1	1	5	2	5	2	3	3	2	2	3	3	2	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.221G>C	p.Ser74Thr	p.S74T	ENST00000321505	1/20	129	87	42	106	106	0	strelka-varscan-mutect	KIAA1549L,missense_variant,p.Ser74Thr,ENST00000321505,NM_012194.2;KIAA1549L,missense_variant,p.Ser74Thr,ENST00000265654,;KIAA1549L,intron_variant,,ENST00000526400,;	C	ENST00000321505	Transcript	missense_variant	401/11678	221/5550	74/1849	S/T	aGc/aCc		1		1	KIAA1549L	HGNC	HGNC:24836	protein_coding	YES	CCDS44565.2	ENSP00000315295	Q6ZVL6		UPI0000E59322	NM_012194.2	tolerated_low_confidence(1)		1/20		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3																	MODERATE	1	SNV	1			1										PASS		rs1340350622	.												C	3	2	57	33542675	33542675	G	C	1	0	0	0	0	1	0	0	0	8121	971	34	4		4	KIAA1549L	11	33542675	Missense_Mutation	SNP	G	C3N-00560_TP	3530171	33542675	101543947	782	18721											
LRRC4C	0	.	GRCh38	chr11	40115230	40115230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagggggctccacaatcaCcggagcatagcatgtgaagt	11	7	13	10	1	1	1	1	1	0	0	2	2	2	2	2	3	3	4	2	3	3	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1063G>T	p.Val355Leu	p.V355L	ENST00000278198	2/2	152	74	78	212	211	1	strelka-varscan-mutect	LRRC4C,missense_variant,p.Val355Leu,ENST00000278198,;LRRC4C,missense_variant,p.Val355Leu,ENST00000527150,;LRRC4C,missense_variant,p.Val355Leu,ENST00000530763,NM_020929.2;LRRC4C,missense_variant,p.Val355Leu,ENST00000528697,NM_001258419.1;LRRC4C,missense_variant,p.Val355Leu,ENST00000619527,;LRRC4C,downstream_gene_variant,,ENST00000533474,;RP11-454H19.2,upstream_gene_variant,,ENST00000624239,;	A	ENST00000278198	Transcript	missense_variant	3027/4054	1063/1923	355/640	V/L	Gtg/Ttg		1		-1	LRRC4C	HGNC	HGNC:29317	protein_coding	YES	CCDS31464.1	ENSP00000278198	Q9HCJ2		UPI000000D9A7		tolerated(0.3)		2/2		PROSITE_profiles:PS50835,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF8,Pfam_domain:PF07679,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	40115230	40115230	C	A	1	0	0	0	0	1	0	0	0	8903	507	18	2		2	LRRC4C	11	40115230	Missense_Mutation	SNP	C	C3N-00560_TP	6572555	40115230	94971392	783	18722											
TTC17	0	.	GRCh38	chr11	43391481	43391481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagtcctgaagattatataGacacagaatctcctgtccct	12	13	6	10	0	1	4	0	1	1	3	4	4	3	4	3	0	0	0	3	0	6	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.436G>A	p.Asp146Asn	p.D146N	ENST00000039989	4/24	84	54	30	128	128	0	strelka-varscan-mutect	TTC17,missense_variant,p.Asp146Asn,ENST00000039989,NM_018259.5;TTC17,missense_variant,p.Asp146Asn,ENST00000299240,NM_001307943.1;RP11-484D2.4,intron_variant,,ENST00000394183,;TTC17,upstream_gene_variant,,ENST00000526774,;TTC17,3_prime_UTR_variant,,ENST00000534347,;TTC17,non_coding_transcript_exon_variant,,ENST00000530469,;	A	ENST00000039989	Transcript	missense_variant	450/4469	436/3426	146/1141	D/N	Gac/Aac		1		1	TTC17	HGNC	HGNC:25596	protein_coding	YES	CCDS31466.1	ENSP00000039989	Q96AE7		UPI000006E6C7	NM_018259.5	tolerated(0.09)		4/24		hmmpanther:PTHR16091																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	43391481	43391481	G	A	1	0	0	0	0	1	0	0	0	17193	942	33	3		3	TTC17	11	43391481	Missense_Mutation	SNP	G	C3N-00560_TP	3276251	43391481	91695141	784	18723											
ACCS	0	.	GRCh38	chr11	44083295	44083295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggctggcttcttcatctGggttgacttgagaaaggtaa	8	13	14	6	0	3	2	1	2	2	1	3	3	3	2	0	5	0	4	0	5	2	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1238G>T	p.Trp413Leu	p.W413L	ENST00000263776	13/15	123	74	49	136	136	0	strelka-varscan-mutect	ACCS,missense_variant,p.Trp413Leu,ENST00000263776,NM_001127219.1,NM_032592.3;ACCS,non_coding_transcript_exon_variant,,ENST00000527346,;ACCS,non_coding_transcript_exon_variant,,ENST00000534035,;ACCS,downstream_gene_variant,,ENST00000531940,;ACCS,downstream_gene_variant,,ENST00000531505,;ACCS,downstream_gene_variant,,ENST00000531190,;ACCS,downstream_gene_variant,,ENST00000532122,;ACCS,downstream_gene_variant,,ENST00000527557,;	T	ENST00000263776	Transcript	missense_variant	1672/2362	1238/1506	413/501	W/L	tGg/tTg		1		1	ACCS	HGNC	HGNC:23989	protein_coding	YES	CCDS7907.1	ENSP00000263776	Q96QU6	A0A0S2Z622	UPI000006D45A	NM_001127219.1,NM_032592.3	deleterious(0)		13/15		hmmpanther:PTHR11751,hmmpanther:PTHR11751:SF375,Gene3D:3.90.1150.10,Pfam_domain:PF00155,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		rs1417232724	.												T	3	4	57	44083295	44083295	G	T	1	0	0	0	0	1	0	0	0	171	1357	47	2		2	ACCS	11	44083295	Missense_Mutation	SNP	G	C3N-00560_TP	691814	44083295	91003327	785	18724											
LRP4	0	.	GRCh38	chr11	46869022	46869022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaaccacgatgatatcCatgagtccttccacatttgc	11	10	9	11	1	0	2	0	2	0	0	3	4	3	3	4	2	2	0	4	2	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.4803G>T	p.Met1601Ile	p.M1601I	ENST00000378623	32/38	479	255	224	574	574	0	strelka-varscan-mutect	LRP4,missense_variant,p.Met1601Ile,ENST00000378623,NM_002334.3;LRP4-AS1,intron_variant,,ENST00000502049,;LRP4-AS1,intron_variant,,ENST00000531719,;LRP4,downstream_gene_variant,,ENST00000527656,;	A	ENST00000378623	Transcript	missense_variant	5046/8076	4803/5718	1601/1905	M/I	atG/atT		1		-1	LRP4	HGNC	HGNC:6696	protein_coding	YES	CCDS31478.1	ENSP00000367888	O75096		UPI0000D625E9	NM_002334.3	deleterious(0.03)		32/38		PROSITE_profiles:PS51120,Gene3D:2.120.10.30,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	46869022	46869022	C	A	1	0	0	0	0	1	0	0	0	8854	594	21	2		2	LRP4	11	46869022	Missense_Mutation	SNP	C	C3N-00560_TP	2785727	46869022	88217600	786	18725											
TRIM49B	0	.	GRCh38	chr11	49034177	49034177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaggctagaagcaattaGagctgagtatcagaagatgc	15	10	11	5	0	1	5	1	1	0	4	1	5	1	5	0	1	3	4	0	1	7	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.539G>T	p.Arg180Ile	p.R180I	ENST00000622138	5/8	247	156	91	409	409	0	strelka-varscan-mutect	TRIM49B,missense_variant,p.Arg180Ile,ENST00000622138,;TRIM49B,missense_variant,p.Arg180Ile,ENST00000332682,NM_001206626.1;	T	ENST00000622138	Transcript	missense_variant	868/2162	539/1359	180/452	R/I	aGa/aTa		1		1	TRIM49B	HGNC	HGNC:42955	protein_coding	YES	CCDS55762.1	ENSP00000481457	A6NDI0		UPI000013EEA1		deleterious(0)		5/8		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310																	MODERATE	1	SNV	5			1										PASS		rs1319639592	.												T	3	4	57	49034177	49034177	G	T	1	0	0	0	0	1	0	0	0	17015	942	33	2		2	TRIM49B	11	49034177	Missense_Mutation	SNP	G	C3N-00560_TP	2165155	49034177	86052445	787	18726											
OR8H2	0	.	GRCh38	chr11	56105179	56105179	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgctggggaatgtggggaTgatattgataatccgcctgg	9	12	15	5	1	0	2	0	2	0	0	1	4	1	4	2	5	1	1	2	5	4	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.137T>C	p.Met46Thr	p.M46T	ENST00000313503	1/1	195	131	64	262	261	1	strelka-varscan-mutect	OR8H2,missense_variant,p.Met45Thr,ENST00000618136,;OR8H2,missense_variant,p.Met46Thr,ENST00000313503,NM_001005200.1;	C	ENST00000313503	Transcript	missense_variant	137/939	137/939	46/312	M/T	aTg/aCg		1		1	OR8H2	HGNC	HGNC:15308	protein_coding	YES	CCDS31518.1	ENSP00000323982	Q8N162		UPI0000041D0C	NM_001005200.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	57	56105179	56105179	T	C	1	0	0	0	0	1	0	0	0	11306	1464	51	5		5	OR8H2	11	56105179	Missense_Mutation	SNP	T	C3N-00560_TP	7071002	56105179	78981443	788	18727											
OR5T2	0	.	GRCh38	chr11	56232322	56232322	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattgtcccataataaatTgacactccagttaggtgagc	13	11	9	8	0	0	2	0	2	0	0	2	3	2	3	2	2	1	1	2	2	4	5	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.864A>G	p.=	p.S288S	ENST00000313264	1/1	61	31	30	48	48	0	strelka-varscan-mutect	OR5T2,synonymous_variant,p.=,ENST00000313264,NM_001004746.1;	C	ENST00000313264	Transcript	synonymous_variant	864/1080	864/1080	288/359	S	tcA/tcG		1		-1	OR5T2	HGNC	HGNC:15296	protein_coding	YES	CCDS31523.1	ENSP00000323688	Q8NGG2		UPI0000061E97	NM_001004746.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF119,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												C	2	2	57	56232322	56232322	T	C	1	0	0	0	0	0	0	0	1	11250	1799	63	5		5	OR5T2	11	56232322	Silent	SNP	T	C3N-00560_TP	127143	56232322	78854300	789	18728											
OR5T3	0	.	GRCh38	chr11	56252813	56252813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggatccaatgaaattaGgcatgtcttttgtgatatgc	10	15	10	6	0	1	2	0	2	1	0	2	3	2	3	1	2	1	1	1	2	4	4	rs867632332		C3N-00560_TP	C3N-00560_NB	G	G																c.614G>T	p.Arg205Met	p.R205M	ENST00000303059	1/1	226	146	80	295	295	0	strelka-varscan-mutect	OR5T3,missense_variant,p.Arg205Met,ENST00000303059,NM_001004747.1;	T	ENST00000303059	Transcript	missense_variant	614/1023	614/1023	205/340	R/M	aGg/aTg	rs867632332	1		1	OR5T3	HGNC	HGNC:15297	protein_coding	YES	CCDS31524.1	ENSP00000305403	Q8NGG3		UPI0000061E96	NM_001004747.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs867632332	.												T	3	4	57	56252813	56252813	G	T	1	0	0	0	0	1	0	0	0	11251	1000	35	2		2	OR5T3	11	56252813	Missense_Mutation	SNP	G	C3N-00560_TP	20491	56252813	78833809	790	18729											
OR8J1	0	.	GRCh38	chr11	56360397	56360397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcatcaccctcaccagtGttgactctcgacttcaaacc	10	10	5	16	1	5	1	4	1	1	0	6	2	5	1	3	0	1	2	3	0	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.151G>A	p.Val51Ile	p.V51I	ENST00000303039	1/1	145	83	62	203	203	0	strelka-varscan-mutect	OR8J1,missense_variant,p.Val51Ile,ENST00000303039,NM_001005205.2;RPL5P29,downstream_gene_variant,,ENST00000482972,;	A	ENST00000303039	Transcript	missense_variant	183/1074	151/951	51/316	V/I	Gtt/Att		1		1	OR8J1	HGNC	HGNC:14855	protein_coding	YES	CCDS31529.1	ENSP00000304060	Q8NGP2		UPI000004BE58	NM_001005205.2	tolerated(0.37)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF317,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	57	56360397	56360397	G	A	1	0	0	0	0	1	0	0	0	11309	1377	48	3		3	OR8J1	11	56360397	Missense_Mutation	SNP	G	C3N-00560_TP	107584	56360397	78726225	791	18730											
OR9G1	0	.	GRCh38	chr11	56701036	56701036	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgctcatcctggcctccTacctctttatcatcaccagt	7	13	5	16	0	4	0	3	0	1	0	6	0	6	0	5	1	2	1	5	1	2	3	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.649T>A	p.Tyr217Asn	p.Y217N	ENST00000312153	1/1	355	262	93	452	452	0	strelka-varscan-mutect	OR9G1,missense_variant,p.Tyr217Asn,ENST00000312153,NM_001005213.1;	A	ENST00000312153	Transcript	missense_variant	649/918	649/918	217/305	Y/N	Tac/Aac		1		1	OR9G1	HGNC	HGNC:15319	protein_coding	YES	CCDS31536.1	ENSP00000309012	Q8NH87		UPI0000061E7E	NM_001005213.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF158,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	57	56701036	56701036	T	A	1	0	0	0	0	1	0	0	0	11317	1522	53	4		4	OR9G1	11	56701036	Missense_Mutation	SNP	T	C3N-00560_TP	340639	56701036	78385586	792	18731											
CLP1	0	.	GRCh38	chr11	57660940	57660940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttctggatcaagaacGactgtacaatgaactgaaac	14	11	9	7	1	2	3	1	2	1	1	2	5	2	4	0	1	4	3	0	1	6	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.782G>T	p.Arg261Leu	p.R261L	ENST00000533682	3/3	203	130	73	237	237	0	strelka-varscan-mutect	CLP1,missense_variant,p.Arg261Leu,ENST00000533682,;CLP1,missense_variant,p.Arg272Leu,ENST00000529430,;CLP1,missense_variant,p.Arg197Leu,ENST00000302731,NM_001142597.1;CLP1,missense_variant,p.Arg261Leu,ENST00000525602,NM_006831.2;CLP1,downstream_gene_variant,,ENST00000529773,;CLP1,downstream_gene_variant,,ENST00000533905,;	T	ENST00000533682	Transcript	missense_variant	1507/2435	782/1278	261/425	R/L	cGa/cTa		1		1	CLP1	HGNC	HGNC:16999	protein_coding	YES	CCDS7964.1	ENSP00000434995	Q92989		UPI000012754A		tolerated(0.06)		3/3		HAMAP:MF_03035,hmmpanther:PTHR12755,Pfam_domain:PF16575,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	57660940	57660940	G	T	1	0	0	0	0	1	0	0	0	3320	1058	37	1		1	CLP1	11	57660940	Missense_Mutation	SNP	G	C3N-00560_TP	959904	57660940	77425682	793	18732											
DTX4	0	.	GRCh38	chr11	59204786	59204786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatgaggtccaccacaaGacagagtttggctctaatct	12	10	10	9	0	2	3	0	1	2	2	3	4	3	4	2	3	0	2	2	3	3	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1737G>T	p.Lys579Asn	p.K579N	ENST00000227451	9/9	313	170	143	398	398	0	strelka-varscan-mutect	DTX4,missense_variant,p.Lys579Asn,ENST00000227451,NM_015177.1;DTX4,missense_variant,p.Lys473Asn,ENST00000532982,NM_001300727.1;MPEG1,downstream_gene_variant,,ENST00000361050,NM_001039396.1;DTX4,downstream_gene_variant,,ENST00000527475,;	T	ENST00000227451	Transcript	missense_variant	1841/5642	1737/1860	579/619	K/N	aaG/aaT		1		1	DTX4	HGNC	HGNC:29151	protein_coding	YES	CCDS44612.1	ENSP00000227451	Q9Y2E6		UPI00001C1F00	NM_015177.1	deleterious(0)		9/9		hmmpanther:PTHR12622:SF5,hmmpanther:PTHR12622																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	59204786	59204786	G	T	1	0	0	0	0	1	0	0	0	4620	933	33	2		2	DTX4	11	59204786	Missense_Mutation	SNP	G	C3N-00560_TP	1543846	59204786	75881836	794	18733											
ZP1	0	.	GRCh38	chr11	60867578	60867578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcatggcaggaggctcagCcacgacctggggttaccctg	7	8	13	13	1	2	0	2	0	1	0	3	2	2	1	3	5	2	3	3	5	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.17C>G	p.Ala6Gly	p.A6G	ENST00000278853	1/12	90	56	34	120	120	0	strelka-varscan-mutect	ZP1,missense_variant,p.Ala6Gly,ENST00000278853,NM_207341.3;ZP1,upstream_gene_variant,,ENST00000537203,;ZP1,upstream_gene_variant,,ENST00000542971,;ZP1,upstream_gene_variant,,ENST00000540908,;	G	ENST00000278853	Transcript	missense_variant	17/1954	17/1917	6/638	A/G	gCc/gGc		1		1	ZP1	HGNC	HGNC:13187	protein_coding	YES	CCDS31572.1	ENSP00000278853	P60852	V9HWI9	UPI0000351AA0	NM_207341.3	deleterious_low_confidence(0.05)		1/12		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	60867578	60867578	C	G	1	0	0	0	0	1	0	0	0	18807	739	26	4		4	ZP1	11	60867578	Missense_Mutation	SNP	C	C3N-00560_TP	1662792	60867578	74219044	795	18734											
PGA5	0	.	GRCh38	chr11	61248350	61248350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaacggtcgctctgaggaGgcaacagcagatggtcacac	12	6	12	11	2	3	2	2	1	1	1	4	3	3	3	0	4	3	3	0	4	2	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.126G>T	p.Glu42Asp	p.E42D	ENST00000451616	1/4	519	289	230	567	567	0	strelka-varscan-mutect	PGA5,missense_variant,p.Glu42Asp,ENST00000451616,;PGA5,intron_variant,,ENST00000312403,NM_014224.3;PGA5,upstream_gene_variant,,ENST00000541528,;CTD-2331C18.5,intron_variant,,ENST00000537594,;PGA5,downstream_gene_variant,,ENST00000536269,;PGA5,downstream_gene_variant,,ENST00000535568,;	T	ENST00000451616	Transcript	missense_variant	229/971	126/705	42/234	E/D	gaG/gaT		1		1	PGA5	HGNC	HGNC:8887	protein_coding			ENSP00000408739		C9JM59	UPI000204AD8D		tolerated_low_confidence(0.21)		1/4		PROSITE_profiles:PS51767																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	57	61248350	61248350	G	T	1	0	0	0	0	1	0	0	0	11862	991	35	2		2	PGA5	11	61248350	Missense_Mutation	SNP	G	C3N-00560_TP	380772	61248350	73838272	796	18735											
DDB1	0	.	GRCh38	chr11	61311820	61311820	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctcaaggctgtcgtgccCccactcgtgtcttggacttc	4	11	11	15	2	2	0	1	0	1	0	5	1	2	1	3	3	1	1	3	3	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2241G>T	p.=	p.G747G	ENST00000301764	18/27	111	68	43	125	123	2	strelka-varscan-mutect	DDB1,synonymous_variant,p.=,ENST00000301764,NM_001923.4;DDB1,intron_variant,,ENST00000543658,;DDB1,downstream_gene_variant,,ENST00000545930,;DDB1,downstream_gene_variant,,ENST00000538280,;DDB1,synonymous_variant,p.=,ENST00000540166,;DDB1,non_coding_transcript_exon_variant,,ENST00000535147,;DDB1,downstream_gene_variant,,ENST00000414411,;DDB1,upstream_gene_variant,,ENST00000539332,;DDB1,downstream_gene_variant,,ENST00000539739,;DDB1,downstream_gene_variant,,ENST00000535967,;DDB1,downstream_gene_variant,,ENST00000537877,;DDB1,downstream_gene_variant,,ENST00000540784,;DDB1,downstream_gene_variant,,ENST00000535174,;	A	ENST00000301764	Transcript	synonymous_variant	2639/4506	2241/3423	747/1140	G	ggG/ggT		1		-1	DDB1	HGNC	HGNC:2717	protein_coding	YES	CCDS31576.1	ENSP00000301764	Q16531		UPI0000000CB7	NM_001923.4			18/27		hmmpanther:PTHR10644																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	61311820	61311820	C	A	1	0	0	0	0	0	0	0	1	4126	610	22	2		2	DDB1	11	61311820	Silent	SNP	C	C3N-00560_TP	63470	61311820	73774802	797	18736											
PPP1R32	0	.	GRCh38	chr11	61482427	61482427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttagacaacccggccaggGggtacggtctgtatggcccc	7	7	13	14	2	1	1	0	0	1	1	1	1	1	1	5	5	2	2	5	5	4	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.226G>T	p.Gly76Trp	p.G76W	ENST00000338608	3/14	95	47	48	136	136	0	strelka-mutect	PPP1R32,missense_variant,p.Gly76Trp,ENST00000338608,NM_145017.2;PPP1R32,missense_variant,p.Gly76Trp,ENST00000432063,NM_001170753.1;PPP1R32,upstream_gene_variant,,ENST00000542951,;RP11-286N22.8,downstream_gene_variant,,ENST00000541135,;PPP1R32,upstream_gene_variant,,ENST00000535545,;RP11-286N22.8,intron_variant,,ENST00000544880,;RP11-286N22.8,downstream_gene_variant,,ENST00000544025,;RP11-286N22.8,splice_region_variant,,ENST00000544801,;RP11-286N22.8,intron_variant,,ENST00000538594,;RP11-286N22.8,downstream_gene_variant,,ENST00000543044,;	T	ENST00000338608	Transcript	missense_variant,splice_region_variant	351/1535	226/1278	76/425	G/W	Ggg/Tgg		1		1	PPP1R32	HGNC	HGNC:28869	protein_coding	YES	CCDS8008.1	ENSP00000344140	Q7Z5V6	G3F4G3	UPI000013E13F	NM_145017.2	deleterious(0)		3/14		Pfam_domain:PF15691,hmmpanther:PTHR34349																	MODERATE	1	SNV	1			1										PASS		rs902541948	.												T	3	4	57	61482427	61482427	G	T	1	0	0	0	0	1	0	0	0	12488	1246	43	2		2	PPP1R32	11	61482427	Missense_Mutation	SNP	G	C3N-00560_TP	170607	61482427	73604195	798	18737											
MTA2	0	.	GRCh38	chr11	62594040	62594040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcagagccttccgtagggcCctggccagaaagagcaagtg	10	6	14	11	1	1	3	1	0	0	3	2	3	2	3	4	2	2	2	4	2	3	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1842G>T	p.Arg614Ser	p.R614S	ENST00000278823	18/18	67	36	31	65	65	0	strelka-varscan-mutect	MTA2,missense_variant,p.Arg614Ser,ENST00000278823,NM_004739.3;MTA2,missense_variant,p.Arg441Ser,ENST00000524902,;MTA2,missense_variant,p.Arg441Ser,ENST00000527204,;TUT1,upstream_gene_variant,,ENST00000476907,;TUT1,upstream_gene_variant,,ENST00000308436,NM_022830.2;TUT1,upstream_gene_variant,,ENST00000494385,;TUT1,upstream_gene_variant,,ENST00000278279,;RP11-864I4.1,upstream_gene_variant,,ENST00000496634,;TUT1,upstream_gene_variant,,ENST00000478537,;MTA2,downstream_gene_variant,,ENST00000526844,;MTA2,downstream_gene_variant,,ENST00000531179,;MTA2,downstream_gene_variant,,ENST00000531261,;MTA2,downstream_gene_variant,,ENST00000532239,;	A	ENST00000278823	Transcript	missense_variant,splice_region_variant	2232/3058	1842/2007	614/668	R/S	agG/agT		1		-1	MTA2	HGNC	HGNC:7411	protein_coding	YES	CCDS8022.1	ENSP00000278823	O94776	A0A024R534	UPI000012F743	NM_004739.3	deleterious_low_confidence(0.03)		18/18		hmmpanther:PTHR10865:SF4,hmmpanther:PTHR10865																	MODERATE	1	SNV	1			1										PASS		rs1460436914	.												A	3	1	57	62594040	62594040	C	A	1	0	0	0	0	1	0	0	0	9894	637	22	2		2	MTA2	11	62594040	Missense_Mutation	SNP	C	C3N-00560_TP	1111613	62594040	72492582	799	18738											
LRRN4CL	0	.	GRCh38	chr11	62688295	62688295	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggagagtcctgggcacaGgcaggccgccggcccgaccc	6	3	16	16	3	0	1	0	0	0	1	1	3	1	1	5	5	0	3	5	5	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.214C>T	p.=	p.L72L	ENST00000317449	2/2	151	72	79	177	177	0	strelka-varscan-mutect	LRRN4CL,synonymous_variant,p.=,ENST00000317449,NM_203422.3;BSCL2,downstream_gene_variant,,ENST00000405837,;BSCL2,downstream_gene_variant,,ENST00000403550,;BSCL2,downstream_gene_variant,,ENST00000360796,NM_001122955.3;BSCL2,downstream_gene_variant,,ENST00000407022,NM_032667.6;BSCL2,downstream_gene_variant,,ENST00000421906,;BSCL2,downstream_gene_variant,,ENST00000278893,NM_001130702.2;BSCL2,downstream_gene_variant,,ENST00000448568,;BSCL2,downstream_gene_variant,,ENST00000524862,;BSCL2,downstream_gene_variant,,ENST00000531524,;BSCL2,downstream_gene_variant,,ENST00000449636,;BSCL2,downstream_gene_variant,,ENST00000403098,;BSCL2,downstream_gene_variant,,ENST00000412351,;BSCL2,downstream_gene_variant,,ENST00000526426,;BSCL2,downstream_gene_variant,,ENST00000532115,;HNRNPUL2-BSCL2,downstream_gene_variant,,ENST00000403734,;BSCL2,downstream_gene_variant,,ENST00000301781,;BSCL2,downstream_gene_variant,,ENST00000463679,;BSCL2,downstream_gene_variant,,ENST00000468505,;BSCL2,downstream_gene_variant,,ENST00000470529,;	A	ENST00000317449	Transcript	synonymous_variant	692/2585	214/717	72/238	L	Ctg/Ttg		1		-1	LRRN4CL	HGNC	HGNC:33724	protein_coding	YES	CCDS8030.1	ENSP00000325808	Q8ND94		UPI00000359F7	NM_203422.3			2/2		hmmpanther:PTHR24366																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	62688295	62688295	G	A	1	0	0	0	0	0	0	0	1	8944	991	35	3		3	LRRN4CL	11	62688295	Silent	SNP	G	C3N-00560_TP	94255	62688295	72398327	800	18739											
RTN3	0	.	GRCh38	chr11	63704907	63704907	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctattttcgacctcacaaGgcaagtctgtaatttttttg	9	17	6	9	1	3	0	1	0	2	0	4	1	3	0	1	1	0	2	1	1	4	7	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.199G>T	p.Glu67Ter	p.E67*	ENST00000377819	2/9	128	74	54	176	176	0	strelka-varscan-mutect	RTN3,stop_gained,p.Glu67Ter,ENST00000377819,NM_001265589.1;RTN3,missense_variant,p.Val67Leu,ENST00000356000,NM_201429.2;RTN3,missense_variant,p.Ala67Ser,ENST00000545432,;RTN3,intron_variant,,ENST00000339997,NM_201428.2;RTN3,intron_variant,,ENST00000540798,NM_001265590.1;RTN3,intron_variant,,ENST00000537981,NM_006054.3;RTN3,intron_variant,,ENST00000341307,NM_201430.2;RTN3,intron_variant,,ENST00000354497,NM_001265591.1;RTN3,intron_variant,,ENST00000542238,;RTN3,intron_variant,,ENST00000543552,;RTN3,splice_region_variant,,ENST00000338850,;RTN3,intron_variant,,ENST00000538995,;RTN3,intron_variant,,ENST00000536011,;RTN3,intron_variant,,ENST00000543123,;	T	ENST00000377819	Transcript	stop_gained,splice_region_variant	353/4937	199/3099	67/1032	E/*	Gag/Tag		1		1	RTN3	HGNC	HGNC:10469	protein_coding	YES	CCDS58141.1	ENSP00000367050	O95197		UPI00004546A2	NM_001265589.1			2/9		hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF1																	HIGH	1	SNV	1			1										PASS		rs1274064715	.												T	4	4	57	63704907	63704907	G	T	1	0	0	0	0	0	1	0	0	13987	1014	35	2		2	RTN3	11	63704907	Nonsense_Mutation	SNP	G	C3N-00560_TP	1016612	63704907	71381715	801	18740											
SLC22A12	0	.	GRCh38	chr11	64593655	64593655	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggagtggacggcggcaCgggcccgacccttggtgatg	6	7	18	10	4	0	2	0	2	0	0	0	5	0	4	2	6	0	1	2	6	0	1	rs748654094		C3N-00560_TP	C3N-00560_NB	C	C																c.682C>A	p.=	p.R228R	ENST00000377574	4/10	257	152	105	302	302	0	strelka-varscan-mutect	SLC22A12,synonymous_variant,p.=,ENST00000377574,NM_144585.3;SLC22A12,synonymous_variant,p.=,ENST00000473690,NM_153378.2;SLC22A12,synonymous_variant,p.=,ENST00000336464,NM_001276326.1;SLC22A12,intron_variant,,ENST00000377572,NM_001276327.1;SLC22A12,intron_variant,,ENST00000377567,;	A	ENST00000377574	Transcript	synonymous_variant	1429/3206	682/1662	228/553	R	Cgg/Agg	rs748654094,COSM5213971	1		1	SLC22A12	HGNC	HGNC:17989	protein_coding	YES	CCDS8075.1	ENSP00000366797	Q96S37		UPI0000040C17	NM_144585.3			4/10		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF205,Superfamily_domains:SSF103473											0,1						LOW	1	SNV	1		0,1	1										PASS		rs748654094	.												A	2	1	57	64593655	64593655	C	A	1	0	0	0	0	0	0	0	1	14709	527	19	1		1	SLC22A12	11	64593655	Silent	SNP	C	C3N-00560_TP	888748	64593655	70492967	802	18741											
NRXN2	0	.	GRCh38	chr11	64685670	64685670	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcaggtttcgggtgacccgGacgtcgtgccaggcgttgtc	4	9	16	12	6	0	1	0	1	0	0	3	2	0	2	2	4	1	3	2	4	0	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1128C>A	p.=	p.V376V	ENST00000265459	6/23	406	222	184	511	511	0	strelka-varscan-mutect	NRXN2,synonymous_variant,p.=,ENST00000265459,NM_015080.3;NRXN2,synonymous_variant,p.=,ENST00000377559,NM_138732.2;NRXN2,synonymous_variant,p.=,ENST00000409571,;NRXN2,synonymous_variant,p.=,ENST00000377551,;NRXN2,synonymous_variant,p.=,ENST00000442300,;NRXN2,synonymous_variant,p.=,ENST00000437746,;NRXN2,synonymous_variant,p.=,ENST00000417749,;NRXN2,non_coding_transcript_exon_variant,,ENST00000466324,;	T	ENST00000265459	Transcript	synonymous_variant	1590/6621	1128/5139	376/1712	V	gtC/gtA		1		-1	NRXN2	HGNC	HGNC:8009	protein_coding	YES	CCDS8077.1	ENSP00000265459	Q9P2S2		UPI0000130AA2	NM_015080.3			6/23		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF593,SMART_domains:SM00282,Superfamily_domains:SSF49899																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	57	64685670	64685670	G	T	1	0	0	0	0	0	0	0	1	10725	1161	41	2		2	NRXN2	11	64685670	Silent	SNP	G	C3N-00560_TP	92015	64685670	70400952	803	18742											
ZFPL1	0	.	GRCh38	chr11	65086586	65086586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagtcaactgggcccGggcaggactgggcctccctc	6	5	14	16	1	1	0	1	0	0	0	3	1	2	1	4	5	1	1	4	5	1	0	rs747733761		C3N-00560_TP	C3N-00560_NB	G	G																c.386G>T	p.Arg129Leu	p.R129L	ENST00000294258	4/8	124	66	58	163	163	0	strelka-varscan-mutect	ZFPL1,missense_variant,p.Arg129Leu,ENST00000294258,NM_006782.3;ZFPL1,missense_variant,p.Arg129Leu,ENST00000532200,;ZFPL1,missense_variant,p.Arg129Leu,ENST00000526334,;ZFPL1,missense_variant,p.Arg123Leu,ENST00000526945,;ZFPL1,intron_variant,,ENST00000530488,;CDCA5,upstream_gene_variant,,ENST00000275517,NM_080668.3;CDCA5,upstream_gene_variant,,ENST00000404147,;VPS51,upstream_gene_variant,,ENST00000528588,;TMEM262,downstream_gene_variant,,ENST00000530719,NM_001282448.1;ZFPL1,downstream_gene_variant,,ENST00000525509,;TMEM262,downstream_gene_variant,,ENST00000524603,;TMEM262,downstream_gene_variant,,ENST00000524632,NM_001242631.2;ZFPL1,downstream_gene_variant,,ENST00000526791,;ZFPL1,3_prime_UTR_variant,,ENST00000453524,;ZFPL1,3_prime_UTR_variant,,ENST00000531761,;TMEM262,non_coding_transcript_exon_variant,,ENST00000528029,;ZFPL1,non_coding_transcript_exon_variant,,ENST00000528123,;ZFPL1,intron_variant,,ENST00000530744,;ZFPL1,downstream_gene_variant,,ENST00000533216,;CDCA5,upstream_gene_variant,,ENST00000479032,;ZFPL1,downstream_gene_variant,,ENST00000526289,;CDCA5,upstream_gene_variant,,ENST00000531401,;CDCA5,upstream_gene_variant,,ENST00000524733,;ZFPL1,downstream_gene_variant,,ENST00000526440,;CDCA5,upstream_gene_variant,,ENST00000527430,;TMEM262,downstream_gene_variant,,ENST00000334821,;CDCA5,upstream_gene_variant,,ENST00000462902,;CDCA5,upstream_gene_variant,,ENST00000533015,;TMEM262,downstream_gene_variant,,ENST00000525544,;	T	ENST00000294258	Transcript	missense_variant	538/1371	386/933	129/310	R/L	cGg/cTg	rs747733761,COSM1676170,COSM2165020	1		1	ZFPL1	HGNC	HGNC:12868	protein_coding	YES	CCDS8092.1	ENSP00000294258	O95159	A0A024R576	UPI000007347E	NM_006782.3	deleterious(0)		4/8		hmmpanther:PTHR12981,hmmpanther:PTHR12981:SF0											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs747733761	.												T	3	4	57	65086586	65086586	G	T	1	0	0	0	0	1	0	0	0	18234	1116	39	1		1	ZFPL1	11	65086586	Missense_Mutation	SNP	G	C3N-00560_TP	400916	65086586	70000036	804	18743											
NPAS4	0	.	GRCh38	chr11	66422842	66422842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctggagccgagaccccGcccaggtcctggccctggcc	4	5	12	20	2	1	1	0	0	1	1	2	3	2	2	8	4	1	0	8	4	0	0	rs777027579		C3N-00560_TP	C3N-00560_NB	G	G																c.599G>T	p.Arg200Leu	p.R200L	ENST00000311034	4/8	296	153	143	323	322	1	strelka-varscan-mutect	NPAS4,missense_variant,p.Arg200Leu,ENST00000311034,NM_178864.3;NPAS4,missense_variant,p.Arg200Leu,ENST00000525148,;NPAS4,upstream_gene_variant,,ENST00000524617,;	T	ENST00000311034	Transcript	missense_variant	775/3303	599/2409	200/802	R/L	cGc/cTc	rs777027579,COSM194386	1		1	NPAS4	HGNC	HGNC:18983	protein_coding	YES	CCDS8138.1	ENSP00000311196	Q8IUM7		UPI0000074744	NM_178864.3	deleterious(0.01)		4/8		Low_complexity_(Seg):seg,hmmpanther:PTHR23043:SF24,hmmpanther:PTHR23043											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs777027579	.												T	3	4	57	66422842	66422842	G	T	1	0	0	0	0	1	0	0	0	10613	1087	38	1		1	NPAS4	11	66422842	Missense_Mutation	SNP	G	C3N-00560_TP	1336256	66422842	68663780	805	18744											
LRFN4	0	.	GRCh38	chr11	66858561	66858561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctacttctgggcagtgcccGagggcgagttctcctgtgag	5	10	15	11	2	2	1	0	1	2	0	3	3	2	1	2	2	2	3	2	2	1	3			C3N-00560_TP	C3N-00560_NB	G	G																c.817G>A	p.Glu273Lys	p.E273K	ENST00000309602	1/2	53	26	27	68	68	0	strelka-varscan-mutect	LRFN4,missense_variant,p.Glu273Lys,ENST00000309602,NM_024036.4;LRFN4,missense_variant,p.Glu273Lys,ENST00000393952,;PC,intron_variant,,ENST00000393960,NM_001040716.1;PC,intron_variant,,ENST00000393958,NM_000920.3;PC,intron_variant,,ENST00000393955,NM_022172.2;PC,downstream_gene_variant,,ENST00000524491,;PC,downstream_gene_variant,,ENST00000628663,;PC,intron_variant,,ENST00000530187,;LRFN4,downstream_gene_variant,,ENST00000531590,;	A	ENST00000309602	Transcript	missense_variant	1060/2431	817/1908	273/635	E/K	Gag/Aag	COSM4559746	1		1	LRFN4	HGNC	HGNC:28456	protein_coding	YES	CCDS8153.1	ENSP00000312535	Q6PJG9	A0A024R5I6	UPI0000001C10	NM_024036.4	deleterious(0)		1/2		hmmpanther:PTHR24373:SF151,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00082,Superfamily_domains:SSF52058											1						MODERATE	1	SNV	1		1	1										PASS		rs1162648844	.												A	3	1	57	66858561	66858561	G	A	1	0	0	0	0	1	0	0	0	8834	1059	37	1		1	LRFN4	11	66858561	Missense_Mutation	SNP	G	C3N-00560_TP	435719	66858561	68228061	806	18745											
TESMIN	0	.	GRCh38	chr11	68713403	68713403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctggatttctaccaagaCatgcctagggtagaatggga	11	11	11	8	0	2	2	0	0	2	2	2	4	2	4	2	3	2	1	2	3	5	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1025G>A	p.Cys342Tyr	p.C342Y	ENST00000255087	8/10	151	84	67	159	159	0	strelka-varscan-mutect	TESMIN,missense_variant,p.Cys342Tyr,ENST00000255087,NM_004923.3;TESMIN,missense_variant,p.Cys35Tyr,ENST00000543240,;TESMIN,upstream_gene_variant,,ENST00000544398,;	T	ENST00000255087	Transcript	missense_variant	1209/2579	1025/1527	342/508	C/Y	tGt/tAt		1		-1	TESMIN	HGNC	HGNC:7446	protein_coding	YES	CCDS8184.1	ENSP00000255087	Q9Y4I5		UPI00001FAE07	NM_004923.3	deleterious(0.02)		8/10		PROSITE_profiles:PS51634,hmmpanther:PTHR12446:SF22,hmmpanther:PTHR12446																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	68713403	68713403	C	T	1	0	0	0	0	1	0	0	0	16188	492	17	3		3	TESMIN	11	68713403	Missense_Mutation	SNP	C	C3N-00560_TP	1854842	68713403	66373219	807	18746											
MRGPRF	0	.	GRCh38	chr11	69005427	69005427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcgacttgtccctccCggccaggaagtagacgatgg	7	7	13	14	4	0	1	0	0	0	1	2	4	2	2	4	3	1	2	4	3	2	2	rs758658446		C3N-00560_TP	C3N-00560_NB	C	C																c.883G>C	p.Gly295Arg	p.G295R	ENST00000309099	3/3	188	127	61	231	231	0	strelka-varscan-mutect	MRGPRF,missense_variant,p.Gly295Arg,ENST00000309099,NM_145015.4;MRGPRF,missense_variant,p.Gly295Arg,ENST00000441623,NM_001098515.1;MRGPRF,downstream_gene_variant,,ENST00000320913,;RP11-554A11.4,upstream_gene_variant,,ENST00000562276,;RP11-554A11.5,downstream_gene_variant,,ENST00000562506,;	G	ENST00000309099	Transcript	missense_variant	1266/2295	883/1032	295/343	G/R	Ggg/Cgg	rs758658446	1		-1	MRGPRF	HGNC	HGNC:24828	protein_coding	YES	CCDS8188.1	ENSP00000309782	Q96AM1	A0A024R5F0	UPI000012F566	NM_145015.4	deleterious(0)		3/3		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF3,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		rs758658446	.												G	3	3	57	69005427	69005427	C	G	1	0	0	0	0	1	0	0	0	9731	652	23	4		4	MRGPRF	11	69005427	Missense_Mutation	SNP	C	C3N-00560_TP	292024	69005427	66081195	808	18747											
ANO1	0	.	GRCh38	chr11	70170974	70170974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaacatcatcgagatccGcctggacgccaaaaagtttg	14	7	9	11	3	1	1	1	0	0	1	3	4	2	2	3	1	2	1	3	1	4	1	rs770919354		C3N-00560_TP	C3N-00560_NB	G	G																c.2285G>T	p.Arg762Leu	p.R762L	ENST00000355303	22/26	154	94	60	200	200	0	strelka-varscan-mutect	ANO1,missense_variant,p.Arg762Leu,ENST00000355303,NM_018043.5;ANO1,missense_variant,p.Arg471Leu,ENST00000531349,;ANO1,missense_variant,p.Arg616Leu,ENST00000530676,;ANO1,non_coding_transcript_exon_variant,,ENST00000525494,;ANO1,non_coding_transcript_exon_variant,,ENST00000529636,;	T	ENST00000355303	Transcript	missense_variant	2590/4790	2285/2961	762/986	R/L	cGc/cTc	rs770919354	1		1	ANO1	HGNC	HGNC:21625	protein_coding	YES	CCDS44663.1	ENSP00000347454	Q5XXA6		UPI000013CE03	NM_018043.5	deleterious(0)		22/26		Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF13																	MODERATE	1	SNV	1			1										PASS		rs770919354	.												T	3	4	57	70170974	70170974	G	T	1	0	0	0	0	1	0	0	0	802	1087	38	1		1	ANO1	11	70170974	Missense_Mutation	SNP	G	C3N-00560_TP	1165547	70170974	64915648	809	18748											
PCF11	0	.	GRCh38	chr11	83184772	83184772	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcaaaaacgaattgcagGaaccctgtgacagtcccaaa	15	8	8	10	1	1	1	1	1	0	0	2	3	2	2	2	1	3	1	2	1	5	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4546G>T	p.Glu1516Ter	p.E1516*	ENST00000298281	16/16	105	58	47	151	151	0	strelka-varscan-mutect	PCF11,stop_gained,p.Glu1516Ter,ENST00000298281,NM_015885.3;PCF11,downstream_gene_variant,,ENST00000530906,;RP11-727A23.5,non_coding_transcript_exon_variant,,ENST00000602381,;PCF11-AS1,downstream_gene_variant,,ENST00000602322,;RP11-727A23.4,downstream_gene_variant,,ENST00000528133,;PCF11,downstream_gene_variant,,ENST00000528336,;	T	ENST00000298281	Transcript	stop_gained	4998/7677	4546/4668	1516/1555	E/*	Gaa/Taa		1		1	PCF11	HGNC	HGNC:30097	protein_coding	YES	CCDS44689.1	ENSP00000298281	O94913		UPI00001BB2B7	NM_015885.3			16/16		hmmpanther:PTHR15921,hmmpanther:PTHR15921:SF3																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	83184772	83184772	G	T	1	0	0	0	0	0	1	0	0	11661	1175	41	2		2	PCF11	11	83184772	Nonsense_Mutation	SNP	G	C3N-00560_TP	13013798	83184772	51901850	810	18749											
DLG2	0	.	GRCh38	chr11	83786732	83786732	+	Frame_Shift_Del	DEL	C	C	-																															aatcgtcactgtctgtccagCcccctttagtgcagcagctg																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1783delG	p.Ala595LeufsTer5	p.A595Lfs*5	ENST00000376104	18/28	177	107	70	230	230	0	sindel-varindel-pindel	DLG2,frameshift_variant,p.Ala490LeufsTer5,ENST00000398309,NM_001364.3;DLG2,frameshift_variant,p.Ala529LeufsTer5,ENST00000280241,NM_001206769.1;DLG2,frameshift_variant,p.Ala595LeufsTer5,ENST00000376104,NM_001142699.1;DLG2,frameshift_variant,p.Ala387LeufsTer5,ENST00000418306,NM_001142700.1;DLG2,frameshift_variant,p.Ala457LeufsTer5,ENST00000531015,;DLG2,frameshift_variant,p.Ala490LeufsTer5,ENST00000532653,NM_001300983.1;DLG2,frameshift_variant,p.Ala490LeufsTer5,ENST00000524982,;DLG2,frameshift_variant,p.Ala429LeufsTer5,ENST00000330014,;DLG2,frameshift_variant,p.Ala529LeufsTer5,ENST00000398301,;DLG2,non_coding_transcript_exon_variant,,ENST00000529111,;RP11-160H12.3,downstream_gene_variant,,ENST00000528055,;	-	ENST00000376104	Transcript	frameshift_variant	2095/5139	1783/2928	595/975	A/X	Gct/ct		1		-1	DLG2	HGNC	HGNC:2901	protein_coding	YES	CCDS44690.1	ENSP00000365272	Q15700		UPI0000E59399	NM_001142699.1			18/28		PROSITE_profiles:PS50106,hmmpanther:PTHR23119:SF6,hmmpanther:PTHR23119,PIRSF_domain:PIRSF001741,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	57	83786732	83786732	C	-	1	0	1	0	1	0	0	0	0	4362	739	26	0		0	DLG2	11	83786732	Frame_Shift_Del	DEL	C	C3N-00560_TP	601960	83786732	51299890	811	18750											
GRM5	0	.	GRCh38	chr11	88567938	88567938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggcaaacaccacagctGcaatgggttcagggtcaccc	11	5	12	13	0	2	0	2	0	0	0	2	0	2	0	2	4	3	5	2	4	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1745C>A	p.Ala582Glu	p.A582E	ENST00000305447	7/9	82	50	32	107	107	0	strelka-varscan-mutect	GRM5,missense_variant,p.Ala582Glu,ENST00000455756,NM_000842.4;GRM5,missense_variant,p.Ala582Glu,ENST00000305447,NM_001143831.2;GRM5,missense_variant,p.Ala582Glu,ENST00000305432,;	T	ENST00000305447	Transcript	missense_variant	1895/4571	1745/3639	582/1212	A/E	gCa/gAa		1		-1	GRM5	HGNC	HGNC:4597	protein_coding	YES	CCDS44694.1	ENSP00000306138	P41594		UPI000012F081	NM_001143831.2	deleterious(0.02)		7/9		Prints_domain:PR01055,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs998009435	.												T	3	4	57	88567938	88567938	G	T	1	0	0	0	0	1	0	0	0	6682	1319	46	2		2	GRM5	11	88567938	Missense_Mutation	SNP	G	C3N-00560_TP	4781206	88567938	46518684	812	18751											
GRM5	0	.	GRCh38	chr11	89047619	89047619	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtgatgttgggcaagAgtgtggggtctgaattgatc	8	12	16	5	0	1	4	0	3	1	1	2	4	1	4	1	3	0	2	1	3	2	2	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.254T>C	p.Leu85Pro	p.L85P	ENST00000305447	1/9	251	148	103	341	341	0	strelka-varscan-mutect	GRM5,missense_variant,p.Leu85Pro,ENST00000455756,NM_000842.4;GRM5,missense_variant,p.Leu85Pro,ENST00000305447,NM_001143831.2;GRM5,missense_variant,p.Leu85Pro,ENST00000305432,;GRM5,missense_variant,p.Leu85Pro,ENST00000393294,;GRM5,upstream_gene_variant,,ENST00000449371,;	G	ENST00000305447	Transcript	missense_variant	404/4571	254/3639	85/1212	L/P	cTc/cCc		1		-1	GRM5	HGNC	HGNC:4597	protein_coding	YES	CCDS44694.1	ENSP00000306138	P41594		UPI000012F081	NM_001143831.2	deleterious(0)		1/9		Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	89047619	89047619	A	G	1	0	0	0	0	1	0	0	0	6682	304	11	5		5	GRM5	11	89047619	Missense_Mutation	SNP	A	C3N-00560_TP	479681	89047619	46039003	813	18752											
FAT3	0	.	GRCh38	chr11	92800517	92800517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttttcacaaagcacatacGtagctgaggtgagagagaac	14	8	10	9	1	1	3	1	2	0	2	1	5	1	3	1	1	4	3	1	1	4	4	rs757504785		C3N-00560_TP	C3N-00560_NB	G	G																c.7054G>T	p.Val2352Leu	p.V2352L	ENST00000525166	9/27	188	102	86	200	200	0	strelka-varscan-mutect	FAT3,missense_variant,p.Val2502Leu,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Val2352Leu,ENST00000525166,;	T	ENST00000525166	Transcript	missense_variant	7076/18699	7054/13320	2352/4439	V/L	Gta/Tta	rs757504785,COSM258557,COSM258558,COSM5691171,COSM5691172	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		tolerated(0.85)		9/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313											0,1,1,1,1						MODERATE	1	SNV	5		0,1,1,1,1	1										PASS		rs757504785	.												T	3	4	57	92800517	92800517	G	T	1	0	0	0	0	1	0	0	0	5551	1145	40	1		1	FAT3	11	92800517	Missense_Mutation	SNP	G	C3N-00560_TP	3752898	92800517	42286105	814	18753											
FAT3	0	.	GRCh38	chr11	92883236	92883236	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgggctgggaggcgagcaCcaggaaatgaccacgtttca	11	5	15	10	3	1	1	1	1	0	0	1	5	1	3	2	4	1	3	2	4	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.12330C>A	p.His4110Gln	p.H4110Q	ENST00000525166	23/27	223	126	97	300	300	0	strelka-varscan-mutect	FAT3,missense_variant,p.His4260Gln,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.His4110Gln,ENST00000525166,;FAT3,missense_variant,p.His595Gln,ENST00000533797,;FAT3,upstream_gene_variant,,ENST00000489716,;FAT3,upstream_gene_variant,,ENST00000469900,;	A	ENST00000525166	Transcript	missense_variant	12352/18699	12330/13320	4110/4439	H/Q	caC/caA		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		tolerated(0.16)		23/27		hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	92883236	92883236	C	A	1	0	0	0	0	1	0	0	0	5551	506	18	2		2	FAT3	11	92883236	Missense_Mutation	SNP	C	C3N-00560_TP	82719	92883236	42203386	815	18754											
CNTN5	0	.	GRCh38	chr11	100193546	100193546	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacagtgggagaaagcatTgtccttaattgcaaagcaat	14	11	10	6	0	0	2	0	1	0	1	1	3	1	2	1	1	3	3	1	1	4	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1767T>A	p.=	p.I589I	ENST00000524871	15/25	185	107	78	194	194	0	strelka-varscan-mutect	CNTN5,synonymous_variant,p.=,ENST00000524871,NM_014361.3;CNTN5,synonymous_variant,p.=,ENST00000279463,;CNTN5,synonymous_variant,p.=,ENST00000619298,;CNTN5,synonymous_variant,p.=,ENST00000527185,NM_001243271.1;CNTN5,synonymous_variant,p.=,ENST00000528682,NM_001243270.1;CNTN5,synonymous_variant,p.=,ENST00000418526,NM_175566.2;CNTN5,non_coding_transcript_exon_variant,,ENST00000524560,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	A	ENST00000524871	Transcript	synonymous_variant	2057/6258	1767/3303	589/1100	I	atT/atA		1		1	CNTN5	HGNC	HGNC:2175	protein_coding	YES	CCDS53696.1	ENSP00000435637	O94779		UPI000006DAB0	NM_014361.3			15/25		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	100193546	100193546	T	A	1	0	0	0	0	0	0	0	1	3425	1800	63	4		4	CNTN5	11	100193546	Silent	SNP	T	C3N-00560_TP	7310310	100193546	34893076	816	18755											
CNTN5	0	.	GRCh38	chr11	100340467	100340467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gataatttgttgataggttgGttactggaaagacatggaac	13	13	12	3	0	0	2	0	1	0	1	0	5	0	4	0	4	2	3	0	4	5	6	rs201931804		C3N-00560_TP	C3N-00560_NB	G	G																c.2735G>T	p.Gly912Val	p.G912V	ENST00000524871	22/25	39	22	17	49	49	0	strelka-varscan-mutect	CNTN5,missense_variant,p.Gly912Val,ENST00000524871,NM_014361.3;CNTN5,missense_variant,p.Gly896Val,ENST00000279463,;CNTN5,missense_variant,p.Gly834Val,ENST00000619298,;CNTN5,missense_variant,p.Gly912Val,ENST00000528682,NM_001243270.1;CNTN5,missense_variant,p.Gly838Val,ENST00000418526,NM_175566.2;CNTN5,non_coding_transcript_exon_variant,,ENST00000524560,;RPA2P3,downstream_gene_variant,,ENST00000533268,;	T	ENST00000524871	Transcript	missense_variant	3025/6258	2735/3303	912/1100	G/V	gGt/gTt	rs201931804	1		1	CNTN5	HGNC	HGNC:2175	protein_coding	YES	CCDS53696.1	ENSP00000435637	O94779		UPI000006DAB0	NM_014361.3	tolerated(0.55)		22/25		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs201931804	.												T	3	4	57	100340467	100340467	G	T	1	0	0	0	0	1	0	0	0	3425	1275	44	2		2	CNTN5	11	100340467	Missense_Mutation	SNP	G	C3N-00560_TP	146921	100340467	34746155	817	18756											
MMP10	0	.	GRCh38	chr11	102779688	102779688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttaacaatgagattactgtCctttcttctaaactgtttca	11	18	4	8	0	3	1	1	1	2	1	4	2	4	1	1	0	3	1	1	0	5	7	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.163G>T	p.Asp55Tyr	p.D55Y	ENST00000279441	2/10	165	98	67	255	255	0	strelka-varscan-mutect	MMP10,missense_variant,p.Asp55Tyr,ENST00000279441,NM_002425.2;MMP10,missense_variant,p.Asp55Tyr,ENST00000539681,;WTAPP1,intron_variant,,ENST00000371455,;WTAPP1,upstream_gene_variant,,ENST00000525739,;WTAPP1,upstream_gene_variant,,ENST00000544704,;	A	ENST00000279441	Transcript	missense_variant	200/1758	163/1431	55/476	D/Y	Gac/Tac		1		-1	MMP10	HGNC	HGNC:7156	protein_coding	YES	CCDS8321.1	ENSP00000279441	P09238		UPI00000422C0	NM_002425.2	deleterious(0)		2/10		Gene3D:3.40.390.10,Pfam_domain:PF01471,PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF153,Superfamily_domains:SSF47090																	MODERATE	1	SNV	1			1										PASS		rs964227800	.												A	3	1	57	102779688	102779688	C	A	1	0	0	0	0	1	0	0	0	9612	855	30	2		2	MMP10	11	102779688	Missense_Mutation	SNP	C	C3N-00560_TP	2439221	102779688	32306934	818	18757											
MMP12	0	.	GRCh38	chr11	102871673	102871673	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatccaggtccaaaagcatgGgctaggattccacctttgcc	10	9	10	12	0	0	0	0	0	0	0	3	2	3	1	5	3	2	2	5	3	3	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.546C>A	p.=	p.A182A	ENST00000571244	4/10	250	167	83	303	301	2	strelka-varscan-mutect	MMP12,synonymous_variant,p.=,ENST00000571244,NM_002426.4;	T	ENST00000571244	Transcript	synonymous_variant	643/1874	546/1413	182/470	A	gcC/gcA		1		-1	MMP12	HGNC	HGNC:7158	protein_coding	YES	CCDS73375.1	ENSP00000458585	P39900		UPI00000422BE	NM_002426.4			4/10		Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,Prints_domain:PR00138,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF32,SMART_domains:SM00235,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	102871673	102871673	G	T	1	0	0	0	0	0	0	0	1	9614	1219	43	2		2	MMP12	11	102871673	Silent	SNP	G	C3N-00560_TP	91985	102871673	32214949	819	18758											
DYNC2H1	0	.	GRCh38	chr11	103259945	103259945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagctcattacaacatatgGtatatgaatatatatgtcgt	14	15	6	6	1	2	1	2	1	0	0	3	1	2	1	0	1	3	2	0	1	9	7	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.10684G>A	p.Val3562Ile	p.V3562I	ENST00000398093	71/90	30	15	15	107	107	0	strelka-varscan-mutect	DYNC2H1,missense_variant,p.Val3555Ile,ENST00000375735,NM_001377.2;DYNC2H1,missense_variant,p.Val3562Ile,ENST00000398093,NM_001080463.1;DYNC2H1,intron_variant,,ENST00000334267,;	A	ENST00000398093	Transcript	missense_variant	10684/12945	10684/12945	3562/4314	V/I	Gta/Ata		1		1	DYNC2H1	HGNC	HGNC:2962	protein_coding	YES	CCDS44717.1	ENSP00000381167	Q8NCM8		UPI0000481AC7	NM_001080463.1	tolerated(0.12)		71/90		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF282																	MODERATE	1	SNV	5			1										PASS		rs1238053472	.												A	3	1	57	103259945	103259945	G	A	1	0	0	0	0	1	0	0	0	4670	1261	44	3		3	DYNC2H1	11	103259945	Missense_Mutation	SNP	G	C3N-00560_TP	388272	103259945	31826677	820	18759											
KBTBD3	0	.	GRCh38	chr11	106053603	106053603	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatgatatgactcggcAatatgcagtcgaaccgttcg	11	10	10	10	4	1	2	1	2	0	0	4	3	1	2	1	1	2	4	1	1	4	3	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1086T>A	p.=	p.I362I	ENST00000526793	3/3	153	76	77	201	201	0	strelka-varscan-mutect	KBTBD3,synonymous_variant,p.=,ENST00000526793,NM_152433.3;KBTBD3,synonymous_variant,p.=,ENST00000534815,;KBTBD3,synonymous_variant,p.=,ENST00000531837,NM_198439.2;KBTBD3,downstream_gene_variant,,ENST00000531482,;KBTBD3,downstream_gene_variant,,ENST00000532662,;	T	ENST00000526793	Transcript	synonymous_variant	1246/3751	1086/1839	362/612	I	atT/atA		1		-1	KBTBD3	HGNC	HGNC:22934	protein_coding	YES	CCDS8334.1	ENSP00000436262	Q8NAB2	A0A024R3B5	UPI00001BDB79	NM_152433.3			3/3		Superfamily_domains:0052715,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF5,SMART_domains:SM00612																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	106053603	106053603	A	T	1	0	0	0	0	0	0	0	1	7911	126	5	4		4	KBTBD3	11	106053603	Silent	SNP	A	C3N-00560_TP	2793658	106053603	29033019	821	18760											
NCAM1	0	.	GRCh38	chr11	113235105	113235105	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtaaggctggcggcgcTcaatggcaaagggctgggtg	7	6	18	10	4	1	0	1	0	0	0	1	0	1	0	1	6	0	5	1	6	3	1	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1844T>A	p.Leu615His	p.L615H	ENST00000619839	15/21	155	94	61	184	184	0	strelka-varscan-mutect	NCAM1,missense_variant,p.Leu615His,ENST00000615285,;NCAM1,missense_variant,p.Leu589His,ENST00000615112,;NCAM1,missense_variant,p.Leu579His,ENST00000618266,;NCAM1,missense_variant,p.Leu589His,ENST00000316851,NM_181351.4;NCAM1,missense_variant,p.Leu579His,ENST00000621518,;NCAM1,missense_variant,p.Leu579His,ENST00000621128,NM_001242608.1;NCAM1,missense_variant,p.Leu615His,ENST00000619839,NM_001242607.1;NCAM1,missense_variant,p.Leu579His,ENST00000531044,NM_000615.6;NCAM1,missense_variant,p.Leu579His,ENST00000621850,NM_001076682.3;NCAM1,missense_variant,p.Leu579His,ENST00000401611,;NCAM1,missense_variant,p.Leu89His,ENST00000533073,;NCAM1,missense_variant,p.Leu124His,ENST00000526322,;NCAM1,missense_variant,p.Leu82His,ENST00000528590,;NCAM1,missense_variant,p.Leu145His,ENST00000530543,;NCAM1,intron_variant,,ENST00000620046,;NCAM1,downstream_gene_variant,,ENST00000613217,;NCAM1,non_coding_transcript_exon_variant,,ENST00000611284,;NCAM1,missense_variant,p.Leu89His,ENST00000531817,;NCAM1,non_coding_transcript_exon_variant,,ENST00000525355,;NCAM1,downstream_gene_variant,,ENST00000534046,;	A	ENST00000619839	Transcript	missense_variant	2182/2993	1844/2655	615/884	L/H	cTc/cAc		1		1	NCAM1	HGNC	HGNC:7656	protein_coding	YES	CCDS73384.1	ENSP00000480132		A0A087WWD4	UPI00021269F1	NM_001242607.1	deleterious(0)		15/21		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF34,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	113235105	113235105	T	A	1	0	0	0	0	1	0	0	0	10218	1551	54	4		4	NCAM1	11	113235105	Missense_Mutation	SNP	T	C3N-00560_TP	7181502	113235105	21851517	822	18761											
NXPE4	0	.	GRCh38	chr11	114580184	114580184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggatcgtggaatctccCattaggtatatgagttttcc	8	14	11	8	2	1	1	0	1	1	0	4	3	2	3	2	4	0	2	2	4	4	5	rs542613181		C3N-00560_TP	C3N-00560_NB	C	C																c.1047G>T	p.Met349Ile	p.M349I	ENST00000375478	5/6	292	178	114	340	340	0	strelka-varscan-mutect	NXPE4,missense_variant,p.Met349Ile,ENST00000375478,NM_001077639.1;NXPE4,missense_variant,p.Met65Ile,ENST00000424261,NM_017678.2;RP11-172C16.4,upstream_gene_variant,,ENST00000536916,;	A	ENST00000375478	Transcript	missense_variant	1228/1822	1047/1635	349/544	M/I	atG/atT	rs542613181,COSM3443665	1		-1	NXPE4	HGNC	HGNC:23117	protein_coding	YES	CCDS41718.1	ENSP00000364627	Q6UWF7		UPI00000477F3	NM_001077639.1	tolerated(0.2)		5/6		hmmpanther:PTHR16165,hmmpanther:PTHR16165:SF3											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs542613181	.												A	3	1	57	114580184	114580184	C	A	1	0	0	0	0	1	0	0	0	10865	594	21	2		2	NXPE4	11	114580184	Missense_Mutation	SNP	C	C3N-00560_TP	1345079	114580184	20506438	823	18762											
SIK3	0	.	GRCh38	chr11	116858245	116858245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggagccagactccccgcatCcccttggttcatgtgcctga	6	9	11	15	1	1	2	1	1	0	1	3	3	3	3	6	2	2	2	6	2	0	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3076G>T	p.Asp1026Tyr	p.D1026Y	ENST00000375300	20/24	75	41	34	85	85	0	strelka-varscan-mutect	SIK3,missense_variant,p.Asp1068Tyr,ENST00000445177,;SIK3,missense_variant,p.Asp1026Tyr,ENST00000375300,NM_025164.4,NM_001281748.1;SIK3,missense_variant,p.Asp966Tyr,ENST00000446921,NM_001281749.1;APOA1-AS,downstream_gene_variant,,ENST00000444200,;SIK3,non_coding_transcript_exon_variant,,ENST00000488337,;SIK3,3_prime_UTR_variant,,ENST00000415541,;SIK3,non_coding_transcript_exon_variant,,ENST00000465421,;SIK3,non_coding_transcript_exon_variant,,ENST00000480468,;	A	ENST00000375300	Transcript	missense_variant	3082/6213	3076/3966	1026/1321	D/Y	Gat/Tat		1		-1	SIK3	HGNC	HGNC:29165	protein_coding	YES	CCDS8379.2	ENSP00000364449		J3KPC8	UPI000066D90F	NM_025164.4,NM_001281748.1	deleterious_low_confidence(0)		20/24		hmmpanther:PTHR22971,hmmpanther:PTHR22971:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	116858245	116858245	C	A	1	0	0	0	0	1	0	0	0	14583	855	30	2		2	SIK3	11	116858245	Missense_Mutation	SNP	C	C3N-00560_TP	2278061	116858245	18228377	824	18763											
FXYD6	0	.	GRCh38	chr11	117840348	117840348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatgaggttctccacctggGcttcctcatctcctggggcc	4	12	11	14	0	3	2	1	2	2	0	6	2	4	2	5	4	0	2	5	4	0	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.230C>T	p.Ala77Val	p.A77V	ENST00000526014	6/8	149	97	52	170	169	1	strelka-varscan-mutect	FXYD6,missense_variant,p.Ala77Val,ENST00000526014,NM_001164832.2,NM_022003.3;FXYD6,missense_variant,p.Ala77Val,ENST00000539526,NM_001164837.2;FXYD6,missense_variant,p.Ala77Val,ENST00000260282,NM_001164836.2;FXYD6,missense_variant,p.Ala77Val,ENST00000527717,NM_001164831.2;FXYD6,missense_variant,p.Ala77Val,ENST00000524656,;FXYD6,missense_variant,p.Ala76Val,ENST00000529335,;FXYD6-FXYD2,missense_variant,p.Pro65Ser,ENST00000532984,NM_001243598.2;FXYD6,missense_variant,p.Ala77Val,ENST00000530956,;FXYD6,missense_variant,p.Ala77Val,ENST00000584230,;FXYD6,intron_variant,,ENST00000584394,;FXYD6-FXYD2,intron_variant,,ENST00000614497,NM_001204268.1;RP11-728F11.4,downstream_gene_variant,,ENST00000534150,;RP11-728F11.4,downstream_gene_variant,,ENST00000525260,;RP11-728F11.4,downstream_gene_variant,,ENST00000581173,;FXYD6,non_coding_transcript_exon_variant,,ENST00000583233,;FXYD6,non_coding_transcript_exon_variant,,ENST00000579486,;FXYD6,missense_variant,p.Ala77Val,ENST00000524841,;FXYD6,non_coding_transcript_exon_variant,,ENST00000527429,;FXYD6,non_coding_transcript_exon_variant,,ENST00000540359,;FXYD6,non_coding_transcript_exon_variant,,ENST00000583660,;FXYD6,downstream_gene_variant,,ENST00000527053,;FXYD6,downstream_gene_variant,,ENST00000534125,;	A	ENST00000526014	Transcript	missense_variant	826/2171	230/288	77/95	A/V	gCc/gTc		1		-1	FXYD6	HGNC	HGNC:4030	protein_coding	YES	CCDS8387.1	ENSP00000433312	Q9H0Q3	A0A024R3J8	UPI0000037BAF	NM_001164832.2,NM_022003.3	deleterious(0.03)		6/8		Gene3D:1.20.5.780,hmmpanther:PTHR14132,hmmpanther:PTHR14132:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	117840348	117840348	G	A	1	0	0	0	0	1	0	0	0	5993	1217	42	3		3	FXYD6	11	117840348	Missense_Mutation	SNP	G	C3N-00560_TP	982103	117840348	17246274	825	18764											
TRIM29	0	.	GRCh38	chr11	120137318	120137318	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcagatgcaggtctggtcGgtctggcagaagagctccat	9	9	14	9	1	2	3	0	0	2	3	4	3	3	3	1	4	3	4	1	4	2	1			C3N-00560_TP	C3N-00560_NB	G	G																c.714C>G	p.=	p.T238T	ENST00000341846	1/9	301	181	120	376	376	0	strelka-varscan-mutect	TRIM29,synonymous_variant,p.=,ENST00000341846,NM_012101.3;TRIM29,downstream_gene_variant,,ENST00000532833,;TRIM29,downstream_gene_variant,,ENST00000529495,;TRIM29,downstream_gene_variant,,ENST00000529040,;TRIM29,downstream_gene_variant,,ENST00000529011,;TRIM29,downstream_gene_variant,,ENST00000627238,;TRIM29,3_prime_UTR_variant,,ENST00000475051,;	C	ENST00000341846	Transcript	synonymous_variant	1136/3328	714/1767	238/588	T	acC/acG	COSM338427	1		-1	TRIM29	HGNC	HGNC:17274	protein_coding	YES	CCDS8428.1	ENSP00000343129	Q14134	A0A024R3J1	UPI0000073FDE	NM_012101.3			1/9		Gene3D:1freA00,Pfam_domain:PF00643,PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF412,SMART_domains:SM00336,Superfamily_domains:SSF57845											1						LOW	1	SNV	1		1	1										PASS		rs1185002346	.												C	2	2	57	120137318	120137318	G	C	1	0	0	0	0	0	0	0	1	16992	1103	39	4		4	TRIM29	11	120137318	Silent	SNP	G	C3N-00560_TP	2296970	120137318	14949304	826	18765											
OR8B4	0	.	GRCh38	chr11	124424145	124424145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagcaacagcaattatgtGggagccccatgtgctaaagg	13	7	12	9	0	0	1	0	0	0	1	0	2	0	2	2	2	5	3	2	2	5	2			C3N-00560_TP	C3N-00560_NB	G	G																c.727C>A	p.His243Asn	p.H243N	ENST00000356130	1/1	112	70	42	136	136	0	strelka-varscan-mutect	OR8B4,missense_variant,p.His243Asn,ENST00000356130,NM_001005196.1;	T	ENST00000356130	Transcript	missense_variant	749/990	727/930	243/309	H/N	Cac/Aac	COSM348376	1		-1	OR8B4	HGNC	HGNC:8473	protein_coding	YES	CCDS31710.1	ENSP00000348449	Q96RC9		UPI00000015B0	NM_001005196.1	deleterious_low_confidence(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF208,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	57	124424145	124424145	G	T	1	0	0	0	0	1	0	0	0	11299	1348	47	2		2	OR8B4	11	124424145	Missense_Mutation	SNP	G	C3N-00560_TP	4286827	124424145	10662477	827	18766											
PKNOX2	0	.	GRCh38	chr11	125429976	125429976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaggttcatcaatgccCggaggcgcatcctgcagccc	7	7	13	14	2	2	0	2	0	0	0	3	1	3	1	3	4	3	4	3	4	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1027C>G	p.Arg343Gly	p.R343G	ENST00000298282	12/13	86	46	40	89	89	0	strelka-varscan-mutect	PKNOX2,missense_variant,p.Arg343Gly,ENST00000298282,NM_022062.2;PKNOX2,non_coding_transcript_exon_variant,,ENST00000530517,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000531116,;PKNOX2,3_prime_UTR_variant,,ENST00000532623,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000526955,;	G	ENST00000298282	Transcript	missense_variant	1298/3687	1027/1419	343/472	R/G	Cgg/Ggg		1		1	PKNOX2	HGNC	HGNC:16714	protein_coding	YES	CCDS41730.1	ENSP00000298282	Q96KN3		UPI000023271E	NM_022062.2	deleterious(0)		12/13		PROSITE_profiles:PS50071,hmmpanther:PTHR11850:SF53,hmmpanther:PTHR11850,Gene3D:1.10.10.60,Pfam_domain:PF05920,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	125429976	125429976	C	G	1	0	0	0	0	1	0	0	0	12079	643	23	4		4	PKNOX2	11	125429976	Missense_Mutation	SNP	C	C3N-00560_TP	1005831	125429976	9656646	828	18767											
KCNJ5	0	.	GRCh38	chr11	128911852	128911852	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcaagatcagccagccCaagaagagagcggagaccct	13	6	11	11	1	2	4	2	0	0	4	2	6	2	4	3	1	3	0	3	1	3	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.579C>G	p.=	p.P193P	ENST00000529694	2/3	138	72	66	186	186	0	strelka-varscan-mutect	KCNJ5,synonymous_variant,p.=,ENST00000529694,NM_000890.3;KCNJ5,synonymous_variant,p.=,ENST00000338350,;KCNJ5,synonymous_variant,p.=,ENST00000533599,;	G	ENST00000529694	Transcript	synonymous_variant	955/5940	579/1260	193/419	P	ccC/ccG		1		1	KCNJ5	HGNC	HGNC:6266	protein_coding	YES	CCDS8479.1	ENSP00000433295	P48544		UPI000013D428	NM_000890.3			2/3		hmmpanther:PTHR11767:SF52,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	57	128911852	128911852	C	G	1	0	0	0	0	0	0	0	1	7971	581	21	4		4	KCNJ5	11	128911852	Silent	SNP	C	C3N-00560_TP	3481876	128911852	6174770	829	18768											
ST14	0	.	GRCh38	chr11	130197871	130197871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagttcacgtgccgcacggGgcggtgtatccggaaggagc	7	6	17	11	5	1	0	1	0	0	0	2	2	2	2	2	5	2	4	2	5	2	2	rs753425257		C3N-00560_TP	C3N-00560_NB	G	G																c.1385G>T	p.Gly462Val	p.G462V	ENST00000278742	12/19	126	65	61	130	130	0	strelka-varscan-mutect	ST14,missense_variant,p.Gly462Val,ENST00000278742,NM_021978.3;ST14,downstream_gene_variant,,ENST00000530532,;ST14,downstream_gene_variant,,ENST00000524718,;ST14,downstream_gene_variant,,ENST00000530376,;	T	ENST00000278742	Transcript	missense_variant	1803/3539	1385/2568	462/855	G/V	gGg/gTg	rs753425257	1		1	ST14	HGNC	HGNC:11344	protein_coding	YES	CCDS8487.1	ENSP00000278742	Q9Y5Y6		UPI00000012E9	NM_021978.3	deleterious(0)		12/19		Gene3D:4.10.400.10,Pfam_domain:PF00057,PIRSF_domain:PIRSF036370,Prints_domain:PR00261,PROSITE_profiles:PS50068,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF226,SMART_domains:SM00192,Superfamily_domains:SSF57424																	MODERATE	1	SNV	1			1										PASS		rs753425257	.												T	3	4	57	130197871	130197871	G	T	1	0	0	0	0	1	0	0	0	15589	1232	43	2		2	ST14	11	130197871	Missense_Mutation	SNP	G	C3N-00560_TP	1286019	130197871	4888751	830	18769											
ADAMTS8	0	.	GRCh38	chr11	130405986	130405986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctatggcagagatggccaGgttgccgttgagcaggtact	8	10	14	9	1	1	2	0	1	1	1	1	3	1	2	2	4	3	5	2	4	2	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2242C>G	p.Leu748Val	p.L748V	ENST00000257359	9/9	164	96	68	248	248	0	strelka-varscan-mutect	ADAMTS8,missense_variant,p.Leu748Val,ENST00000257359,NM_007037.4;RP11-121M22.1,downstream_gene_variant,,ENST00000602376,;RP11-121M22.1,downstream_gene_variant,,ENST00000616197,;ADAMTS8,non_coding_transcript_exon_variant,,ENST00000531752,;	C	ENST00000257359	Transcript	missense_variant	2949/4010	2242/2670	748/889	L/V	Ctg/Gtg		1		-1	ADAMTS8	HGNC	HGNC:224	protein_coding	YES	CCDS41732.1	ENSP00000257359	Q9UP79		UPI000013CF5D	NM_007037.4	deleterious(0)		9/9		hmmpanther:PTHR13723:SF41,hmmpanther:PTHR13723,Pfam_domain:PF05986																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	130405986	130405986	G	C	1	0	0	0	0	1	0	0	0	316	991	35	4		4	ADAMTS8	11	130405986	Missense_Mutation	SNP	G	C3N-00560_TP	208115	130405986	4680636	831	18770											
ADAMTS8	0	.	GRCh38	chr11	130414806	130414806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggaggggcagggccgCagcaggggcatccaggagac	8	3	21	9	1	0	1	0	0	0	1	1	3	1	2	2	8	1	4	2	8	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1291G>A	p.Ala431Thr	p.A431T	ENST00000257359	5/9	84	64	20	124	123	1	strelka-varscan-mutect	ADAMTS8,missense_variant,p.Ala431Thr,ENST00000257359,NM_007037.4;ADAMTS8,upstream_gene_variant,,ENST00000531752,;	T	ENST00000257359	Transcript	missense_variant	1998/4010	1291/2670	431/889	A/T	Gcg/Acg		1		-1	ADAMTS8	HGNC	HGNC:224	protein_coding	YES	CCDS41732.1	ENSP00000257359	Q9UP79		UPI000013CF5D	NM_007037.4	tolerated(0.11)		5/9		Low_complexity_(Seg):seg,hmmpanther:PTHR13723:SF41,hmmpanther:PTHR13723,Gene3D:3.40.390.10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	130414806	130414806	C	T	1	0	0	0	0	1	0	0	0	316	710	25	3		3	ADAMTS8	11	130414806	Missense_Mutation	SNP	C	C3N-00560_TP	8820	130414806	4671816	832	18771											
WNK1	0	.	GRCh38	chr12	868005	868005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtagccatttcccagcggcGtaagagcacctccttcctgg	8	9	10	14	2	0	1	0	0	0	1	3	1	3	1	5	2	3	3	5	2	2	4			C3N-00560_TP	C3N-00560_NB	G	G																c.2534G>T	p.Arg845Leu	p.R845L	ENST00000340908	10/28	375	314	61	398	398	0	strelka-varscan-mutect	WNK1,missense_variant,p.Arg760Leu,ENST00000530271,;WNK1,missense_variant,p.Arg760Leu,ENST00000537687,NM_001184985.1;WNK1,missense_variant,p.Arg845Leu,ENST00000340908,NM_213655.4;WNK1,missense_variant,p.Arg59Leu,ENST00000574564,;WNK1,intron_variant,,ENST00000315939,NM_018979.3;WNK1,intron_variant,,ENST00000535572,NM_014823.2;WNK1,intron_variant,,ENST00000535698,;WNK1,intron_variant,,ENST00000544965,;WNK1,intron_variant,,ENST00000545285,;WNK1,upstream_gene_variant,,ENST00000574679,;	T	ENST00000340908	Transcript	missense_variant	3177/11208	2534/7905	845/2634	R/L	cGt/cTt	COSM1513743,COSM3813266,COSM5202542,COSM5324297	1		1	WNK1	HGNC	HGNC:14540	protein_coding	YES	CCDS73419.1	ENSP00000341292	Q9H4A3		UPI0001DD21C4	NM_213655.4	deleterious_low_confidence(0)		10/28													1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		rs1427290653	.												T	3	4	57	868005	868005	G	T	1	0	0	0	0	1	0	0	0	17933	1145	40	1		1	WNK1	12	868005	Missense_Mutation	SNP	G	C3N-00560_TP		868005	132407304	833	18772											
FOXM1	0	.	GRCh38	chr12	2864704	2864704	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgcccagggggagttcggTtttgatggtcatgttccggc	4	12	16	9	3	1	1	1	1	0	0	3	2	2	2	2	5	1	3	2	5	0	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1069A>T	p.Thr357Ser	p.T357S	ENST00000342628	7/10	244	205	39	222	221	1	strelka-varscan-mutect	FOXM1,missense_variant,p.Thr342Ser,ENST00000627656,NM_001243088.1;FOXM1,missense_variant,p.Thr357Ser,ENST00000342628,NM_202002.2;FOXM1,missense_variant,p.Thr342Ser,ENST00000361953,NM_202003.2,NM_001243089.1;FOXM1,missense_variant,p.Thr357Ser,ENST00000359843,NM_021953.3;FOXM1,missense_variant,p.Thr83Ser,ENST00000535350,;ITFG2,downstream_gene_variant,,ENST00000545509,;ITFG2,downstream_gene_variant,,ENST00000537710,;FOXM1,downstream_gene_variant,,ENST00000537018,;FOXM1,3_prime_UTR_variant,,ENST00000538564,;FOXM1,non_coding_transcript_exon_variant,,ENST00000536066,;FOXM1,non_coding_transcript_exon_variant,,ENST00000366362,;FOXM1,downstream_gene_variant,,ENST00000545049,;	A	ENST00000342628	Transcript	missense_variant	1183/3475	1069/2406	357/801	T/S	Acc/Tcc		1		-1	FOXM1	HGNC	HGNC:3818	protein_coding	YES	CCDS8516.1	ENSP00000342307	Q08050		UPI000016B22B	NM_202002.2	tolerated(0.18)		7/10																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	2864704	2864704	T	A	1	0	0	0	0	1	0	0	0	5882	1725	60	4		4	FOXM1	12	2864704	Missense_Mutation	SNP	T	C3N-00560_TP	1996699	2864704	130410605	834	18773											
DYRK4	0	.	GRCh38	chr12	4607371	4607371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcattcagacagcctccagGagacagacattctttggtaa	12	11	8	10	0	3	3	2	0	1	3	4	4	4	3	2	2	1	1	2	2	1	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.999G>T	p.Arg333Ser	p.R333S	ENST00000540757	10/13	206	171	35	198	197	1	strelka-varscan-mutect	DYRK4,missense_variant,p.Arg333Ser,ENST00000540757,NM_003845.2;DYRK4,missense_variant,p.Arg448Ser,ENST00000543431,;DYRK4,missense_variant,p.Arg333Ser,ENST00000010132,;DYRK4,upstream_gene_variant,,ENST00000544671,;DYRK4,non_coding_transcript_exon_variant,,ENST00000536137,;DYRK4,non_coding_transcript_exon_variant,,ENST00000540644,;DYRK4,intron_variant,,ENST00000545571,;RP11-500M8.7,intron_variant,,ENST00000536588,;DYRK4,upstream_gene_variant,,ENST00000541024,;RP11-234B24.5,upstream_gene_variant,,ENST00000538921,;	T	ENST00000540757	Transcript	missense_variant	1159/3272	999/1563	333/520	R/S	agG/agT		1		1	DYRK4	HGNC	HGNC:3095	protein_coding	YES	CCDS8530.1	ENSP00000441755	Q9NR20		UPI000006E05C	NM_003845.2	deleterious(0)		10/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF22,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	4607371	4607371	G	T	1	0	0	0	0	1	0	0	0	4682	1165	41	2		2	DYRK4	12	4607371	Missense_Mutation	SNP	G	C3N-00560_TP	1742667	4607371	128667938	835	18774											
GALNT8	0	.	GRCh38	chr12	4810134	4810134	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagacttcccggaggcCggcgggggcgggggctgctg	3	4	23	11	5	0	1	0	0	0	1	1	3	1	2	2	8	1	2	2	8	0	1			C3N-00560_TP	C3N-00560_NB	C	C																c.93C>A	p.=	p.A31A	ENST00000280684	1/1	62	40	22	59	59	0	strelka-varscan-mutect	GALNT8,synonymous_variant,p.=,ENST00000433855,NM_002235.3;KCNA6,synonymous_variant,p.=,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;	A	ENST00000280684	Transcript	synonymous_variant	959/4237	93/1590	31/529	A	gcC/gcA	COSM4513473	1		1	KCNA6	HGNC	HGNC:6225	protein_coding	YES	CCDS8534.1	ENSP00000280684	P17658		UPI00001279AD				1/1		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF104											1						LOW		SNV			1	1										PASS		.	.												A	2	1	57	4810134	4810134	C	A	1	0	0	0	0	0	0	0	1	6090	639	23	1		1	GALNT8	12	4810134	Silent	SNP	C	C3N-00560_TP	202763	4810134	128465175	836	18775											
GALNT8	0	.	GRCh38	chr12	4810917	4810917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctagcaagccggccttcttCcggaacatcatgaacatcat	11	9	7	14	2	3	1	2	1	1	0	4	2	4	2	4	2	4	1	4	2	4	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.876C>A	p.Phe292Leu	p.F292L	ENST00000280684	1/1	150	125	25	146	146	0	strelka-varscan-mutect	GALNT8,missense_variant,p.Phe292Leu,ENST00000433855,NM_002235.3;KCNA6,missense_variant,p.Phe292Leu,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;	A	ENST00000280684	Transcript	missense_variant	1742/4237	876/1590	292/529	F/L	ttC/ttA		1		1	KCNA6	HGNC	HGNC:6225	protein_coding	YES	CCDS8534.1	ENSP00000280684	P17658		UPI00001279AD		deleterious(0.03)		1/1		Gene3D:1.20.120.350,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF104,Superfamily_domains:SSF81324																	MODERATE		SNV				1										PASS		.	.												A	3	1	57	4810917	4810917	C	A	1	0	0	0	0	1	0	0	0	6090	854	30	2		2	GALNT8	12	4810917	Missense_Mutation	SNP	C	C3N-00560_TP	783	4810917	128464392	837	18776											
LPAR5	0	.	GRCh38	chr12	6621096	6621096	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaccgagtgcacgcgCagcgcgcgcaggaagaccca	10	2	12	17	6	1	1	1	0	0	1	1	3	1	2	3	1	2	3	3	1	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.153G>T	p.=	p.L51L	ENST00000329858	2/2	57	36	21	47	47	0	strelka-varscan-mutect	LPAR5,synonymous_variant,p.=,ENST00000329858,NM_020400.5;LPAR5,synonymous_variant,p.=,ENST00000431922,NM_001142961.1;LPAR5,non_coding_transcript_exon_variant,,ENST00000540335,;	A	ENST00000329858	Transcript	synonymous_variant	910/3171	153/1119	51/372	L	ctG/ctT		1		-1	LPAR5	HGNC	HGNC:13307	protein_coding	YES	CCDS8553.1	ENSP00000327875	Q9H1C0	Q5KU18	UPI0000036A45	NM_020400.5			2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24234,hmmpanther:PTHR24234:SF6,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	6621096	6621096	C	A	1	0	0	0	0	0	0	0	1	8811	697	25	2		2	LPAR5	12	6621096	Silent	SNP	C	C3N-00560_TP	1810179	6621096	126654213	838	18777											
ZNF384	0	.	GRCh38	chr12	6678140	6678140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttacctgtaggtcttgcCgtctttctgatggtcatcat	5	17	9	10	1	6	1	2	1	4	0	6	1	6	1	2	2	2	1	2	2	2	4	rs551677880		C3N-00560_TP	C3N-00560_NB	C	C																c.673G>T	p.Gly225Cys	p.G225C	ENST00000396801	6/11	81	48	33	103	103	0	strelka-varscan-mutect	ZNF384,missense_variant,p.Gly225Cys,ENST00000319770,NM_133476.4;ZNF384,missense_variant,p.Gly225Cys,ENST00000396801,NM_001135734.2;ZNF384,missense_variant,p.Gly225Cys,ENST00000361959,;ZNF384,missense_variant,p.Gly170Cys,ENST00000355772,NM_001039920.2;ZNF384,missense_variant,p.Gly225Cys,ENST00000417772,;ZNF384,missense_variant,p.Gly209Cys,ENST00000436774,;ZNF384,downstream_gene_variant,,ENST00000540915,;ZNF384,downstream_gene_variant,,ENST00000535485,;ZNF384,downstream_gene_variant,,ENST00000542351,;ZNF384,downstream_gene_variant,,ENST00000544482,;ZNF384,downstream_gene_variant,,ENST00000538829,;ZNF384,non_coding_transcript_exon_variant,,ENST00000542519,;ZNF384,upstream_gene_variant,,ENST00000537383,;ZNF384,downstream_gene_variant,,ENST00000537248,;ZNF384,downstream_gene_variant,,ENST00000542605,;	A	ENST00000396801	Transcript	missense_variant	881/3008	673/1734	225/577	G/C	Ggc/Tgc	rs551677880	1		-1	ZNF384	HGNC	HGNC:11955	protein_coding	YES	CCDS44817.1	ENSP00000380019	Q8TF68		UPI00001AE6F8	NM_001135734.2	deleterious(0)		6/11		hmmpanther:PTHR24409,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		rs551677880	.												A	3	1	57	6678140	6678140	C	A	1	0	0	0	0	1	0	0	0	18447	652	23	1		1	ZNF384	12	6678140	Missense_Mutation	SNP	C	C3N-00560_TP	57044	6678140	126597169	839	18778											
CD163	0	.	GRCh38	chr12	7487944	7487944	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatagagacaactgtgcCacactgtaattccctgcata	13	9	8	11	0	0	1	0	0	0	1	1	3	1	2	2	1	3	2	2	1	4	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1564G>T	p.Gly522Cys	p.G522C	ENST00000359156	7/17	248	159	89	268	268	0	strelka-varscan-mutect	CD163,missense_variant,p.Gly522Cys,ENST00000359156,NM_004244.5;CD163,missense_variant,p.Gly522Cys,ENST00000396620,;CD163,missense_variant,p.Gly522Cys,ENST00000432237,NM_203416.3;CD163,missense_variant,p.Gly510Cys,ENST00000541972,;CD163,upstream_gene_variant,,ENST00000537626,;CD163,upstream_gene_variant,,ENST00000542280,;CD163,upstream_gene_variant,,ENST00000539632,;CD163,non_coding_transcript_exon_variant,,ENST00000537044,;CD163,upstream_gene_variant,,ENST00000538840,;	A	ENST00000359156	Transcript	missense_variant	1767/4268	1564/3471	522/1156	G/C	Ggc/Tgc		1		-1	CD163	HGNC	HGNC:1631	protein_coding	YES	CCDS8578.1	ENSP00000352071	Q86VB7		UPI00004565CC	NM_004244.5	deleterious(0)		7/17		Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF324,SMART_domains:SM00202,Superfamily_domains:SSF56487																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	7487944	7487944	C	A	1	0	0	0	0	1	0	0	0	2670	594	21	2		2	CD163	12	7487944	Missense_Mutation	SNP	C	C3N-00560_TP	809804	7487944	125787365	840	18779											
APOBEC1	0	.	GRCh38	chr12	7649611	7649611	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtgtggcggaatcgttTggtaatggcagttttgaaga	9	13	16	3	2	0	2	0	1	0	1	1	4	0	4	0	5	0	4	0	5	3	4	rs774597050		C3N-00560_TP	C3N-00560_NB	T	T																c.647A>T	p.Gln216Leu	p.Q216L	ENST00000229304	5/5	186	164	22	184	184	0	strelka-varscan-mutect	APOBEC1,missense_variant,p.Gln216Leu,ENST00000229304,NM_001304566.1,NM_001644.4;APOBEC1,3_prime_UTR_variant,,ENST00000467171,NM_005889.3;	A	ENST00000229304	Transcript	missense_variant	668/879	647/711	216/236	Q/L	cAa/cTa	rs774597050	1		-1	APOBEC1	HGNC	HGNC:604	protein_coding	YES	CCDS8579.1	ENSP00000229304	P41238		UPI000013C8F4	NM_001304566.1,NM_001644.4	deleterious(0.01)		5/5		hmmpanther:PTHR13857:SF26,hmmpanther:PTHR13857																	MODERATE	1	SNV	1			1										PASS		rs774597050	.												A	3	1	57	7649611	7649611	T	A	1	0	0	0	0	1	0	0	0	908	1812	63	4		4	APOBEC1	12	7649611	Missense_Mutation	SNP	T	C3N-00560_TP	161667	7649611	125625698	841	18780											
CLEC12B	0	.	GRCh38	chr12	10018432	10018432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagtgctgaaattttttGgatttgcgagaagacagctg	10	14	12	5	1	0	3	0	1	0	2	0	5	0	4	0	1	3	3	0	1	3	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.782G>T	p.Trp261Leu	p.W261L	ENST00000338896	6/6	212	186	26	263	263	0	strelka-varscan-mutect	CLEC12B,missense_variant,p.Trp261Leu,ENST00000338896,NM_001129998.1;CLEC12B,downstream_gene_variant,,ENST00000396502,NM_001319242.1,NM_205852.2;RP11-133L14.5,intron_variant,,ENST00000544225,;CLEC12B,3_prime_UTR_variant,,ENST00000544853,;CLEC12B,downstream_gene_variant,,ENST00000539155,;	T	ENST00000338896	Transcript	missense_variant	910/1097	782/831	261/276	W/L	tGg/tTg		1		1	CLEC12B	HGNC	HGNC:31966	protein_coding	YES	CCDS44830.1	ENSP00000344563	Q2HXU8	A0A140VK10	UPI000036687A	NM_001129998.1	tolerated(0.75)		6/6		PROSITE_profiles:PS50041,hmmpanther:PTHR22800:SF8,hmmpanther:PTHR22800,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	10018432	10018432	G	T	1	0	0	0	0	1	0	0	0	3264	1357	47	2		2	CLEC12B	12	10018432	Missense_Mutation	SNP	G	C3N-00560_TP	2368821	10018432	123256877	842	18781											
GRIN2B	0	.	GRCh38	chr12	13567263	13567263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccagttcttccatctccCctggggaaaggacagagaag	10	9	10	12	0	2	1	0	0	2	1	5	4	4	3	4	3	0	1	4	3	2	3			C3N-00560_TP	C3N-00560_NB	C	C																c.2360G>A	p.Gly787Glu	p.G787E	ENST00000609686	12/13	273	237	36	260	260	0	strelka-varscan-mutect	GRIN2B,missense_variant,p.Gly787Glu,ENST00000609686,NM_000834.3;GRIN2B,intron_variant,,ENST00000637214,;GRIN2B,splice_region_variant,,ENST00000628166,;GRIN2B,upstream_gene_variant,,ENST00000636207,;	T	ENST00000609686	Transcript	missense_variant,splice_region_variant	2814/30355	2360/4455	787/1484	G/E	gGg/gAg	COSM1511571	1		-1	GRIN2B	HGNC	HGNC:4586	protein_coding	YES	CCDS8662.1	ENSP00000477455	Q13224		UPI000013026C	NM_000834.3	deleterious(0)		12/13		Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF192,SMART_domains:SM00079,Superfamily_domains:SSF53850											1						MODERATE	1	SNV	1		1	1										PASS		rs898581464	.												T	3	4	57	13567263	13567263	C	T	1	0	0	0	0	1	0	0	0	6662	637	22	3		3	GRIN2B	12	13567263	Missense_Mutation	SNP	C	C3N-00560_TP	3548831	13567263	119708046	843	18782											
GRIN2B	0	.	GRCh38	chr12	13753881	13753881	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaagcttgctgttcaattGatgggccaaactggaagaac	12	9	12	8	1	1	2	1	1	0	1	1	4	1	4	1	3	4	3	1	3	5	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.446C>A	p.Ser149Ter	p.S149*	ENST00000609686	3/13	133	87	46	151	150	1	strelka-varscan-mutect	GRIN2B,stop_gained,p.Ser149Ter,ENST00000609686,NM_000834.3;	T	ENST00000609686	Transcript	stop_gained	900/30355	446/4455	149/1484	S/*	tCa/tAa		1		-1	GRIN2B	HGNC	HGNC:4586	protein_coding	YES	CCDS8662.1	ENSP00000477455	Q13224		UPI000013026C	NM_000834.3			3/13		Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF192,Superfamily_domains:SSF53822																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	13753881	13753881	G	T	1	0	0	0	0	0	1	0	0	6662	1294	45	2		2	GRIN2B	12	13753881	Nonsense_Mutation	SNP	G	C3N-00560_TP	186618	13753881	119521428	844	18783											
PIK3C2G	0	.	GRCh38	chr12	18538283	18538283	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatattatcagaaagcacAgccaactgctcttgaacctg	15	10	6	10	0	2	2	1	1	1	1	2	2	2	2	2	0	5	2	2	0	6	4	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.3451A>T	p.Ser1151Cys	p.S1151C	ENST00000538779	25/33	121	77	44	147	147	0	varscan-mutect	PIK3C2G,missense_variant,p.Ser1151Cys,ENST00000538779,NM_001288772.1,NM_001288774.1;PIK3C2G,missense_variant,p.Ser1110Cys,ENST00000433979,NM_004570.5;PIK3C2G,missense_variant,p.Ser1110Cys,ENST00000266497,;PIK3C2G,3_prime_UTR_variant,,ENST00000546003,;	T	ENST00000538779	Transcript	missense_variant	3567/4963	3451/4461	1151/1486	S/C	Agc/Tgc		1		1	PIK3C2G	HGNC	HGNC:8973	protein_coding	YES	CCDS73452.1	ENSP00000445381		F5H369	UPI00020655D2	NM_001288772.1,NM_001288774.1	deleterious(0)		25/33		PROSITE_profiles:PS50290,hmmpanther:PTHR10048:SF29,hmmpanther:PTHR10048,Pfam_domain:PF00454,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	18538283	18538283	A	T	1	0	0	0	0	1	0	0	0	12006	188	7	4		4	PIK3C2G	12	18538283	Missense_Mutation	SNP	A	C3N-00560_TP	4784402	18538283	114737026	845	18784											
PLEKHA5	0	.	GRCh38	chr12	19255166	19255166	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgagccctgtaggcagaGtaagttattttgctttatat	11	15	9	6	0	0	2	0	1	0	1	0	2	0	2	1	1	2	5	1	1	6	8			C3N-00560_TP	C3N-00560_NB	G	G																c.432+1G>A		p.X144_splice	ENST00000429027		40	26	14	47	47	0	strelka-varscan-mutect	PLEKHA5,splice_donor_variant,,ENST00000538714,NM_001143821.2;PLEKHA5,splice_donor_variant,,ENST00000429027,NM_001256470.1;PLEKHA5,splice_donor_variant,,ENST00000424268,NM_001256787.1;PLEKHA5,splice_donor_variant,,ENST00000299275,NM_019012.5;PLEKHA5,splice_donor_variant,,ENST00000539256,;PLEKHA5,splice_donor_variant,,ENST00000536974,;PLEKHA5,splice_donor_variant,,ENST00000538305,;PLEKHA5,splice_donor_variant,,ENST00000538034,;PLEKHA5,upstream_gene_variant,,ENST00000510738,;PLEKHA5,downstream_gene_variant,,ENST00000534979,;	A	ENST00000429027	Transcript	splice_donor_variant	-/4762	432/3849	144/1282			COSM3935860,COSM3935861,COSM3935862	1		1	PLEKHA5	HGNC	HGNC:30036	protein_coding	YES	CCDS58213.1	ENSP00000404296	Q9HAU0		UPI000204ABA8	NM_001256470.1				5/31												1,1,1						HIGH	1	SNV	1		1,1,1	1										PASS		.	.												A	5	1	57	19255166	19255166	G	A	1	0	0	0	0	0	0	1	0	12152	1043	36	3		3	PLEKHA5	12	19255166	Splice_Site	SNP	G	C3N-00560_TP	716883	19255166	114020143	846	18785											
SLCO1B3	0	.	GRCh38	chr12	20916028	20916028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctacttgggcttatctatAgctttaagattcccagcact	9	15	7	10	0	2	1	0	0	2	1	3	1	3	1	1	1	3	3	1	1	5	8	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1890A>G	p.Ile630Met	p.I630M	ENST00000261196	14/14	66	57	9	105	105	0	strelka-varscan-mutect	SLCO1B3,missense_variant,p.Ile630Met,ENST00000261196,;SLCO1B3,missense_variant,p.Ile630Met,ENST00000381545,NM_019844.3;RP11-545J16.1,intron_variant,,ENST00000540229,;RP11-545J16.1,intron_variant,,ENST00000381541,;	G	ENST00000261196	Transcript	missense_variant	1957/2840	1890/2109	630/702	I/M	atA/atG		1		1	SLCO1B3	HGNC	HGNC:10961	protein_coding	YES	CCDS8684.1	ENSP00000261196	Q9NPD5		UPI000013544A		tolerated(0.44)		14/14		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11388:SF89,hmmpanther:PTHR11388,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00805,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	20916028	20916028	A	G	1	0	0	0	0	1	0	0	0	15010	410	15	5		5	SLCO1B3	12	20916028	Missense_Mutation	SNP	A	C3N-00560_TP	1660862	20916028	112359281	847	18786											
SLCO1B1	0	.	GRCh38	chr12	21172734	21172734	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttccatcattcatatagaaCggagatttgagatatcctct	12	14	7	8	1	3	3	2	1	1	3	5	5	5	3	2	1	1	1	2	1	4	6	rs139257324		C3N-00560_TP	C3N-00560_NB	C	C																c.169C>A	p.=	p.R57R	ENST00000256958	3/15	197	131	66	288	288	0	strelka-varscan-mutect	SLCO1B1,synonymous_variant,p.=,ENST00000256958,NM_006446.4;RP11-125O5.2,intron_variant,,ENST00000543498,;	A	ENST00000256958	Transcript	synonymous_variant	265/2229	169/2076	57/691	R	Cgg/Agg	rs139257324,CM120188,COSM182981	1		1	SLCO1B1	HGNC	HGNC:10959	protein_coding	YES	CCDS8685.1	ENSP00000256958	Q9Y6L6	A0A024RAU7	UPI0000043BED	NM_006446.4			3/15		Gene3D:1.20.1250.20,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF82,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805											0,0,1						LOW	1	SNV	1		0,1,1	1										PASS		rs139257324	.												A	2	1	57	21172734	21172734	C	A	1	0	0	0	0	0	0	0	1	15009	527	19	1		1	SLCO1B1	12	21172734	Silent	SNP	C	C3N-00560_TP	256706	21172734	112102575	848	18787											
SLCO1B1	0	.	GRCh38	chr12	21178644	21178644	+	Frame_Shift_Del	DEL	G	G	-																															gtaatatgcttcgtggaataGgggagactcccatagtacca																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.553delG	p.Glu185ArgfsTer4	p.E185Rfs*4	ENST00000256958	6/15	130	91	39	186	186	0	sindel-varindel-pindel	SLCO1B1,frameshift_variant,p.Glu185ArgfsTer4,ENST00000256958,NM_006446.4;RP11-125O5.2,downstream_gene_variant,,ENST00000543498,;	-	ENST00000256958	Transcript	frameshift_variant	646/2229	550/2076	184/691	G/X	Ggg/gg		1		1	SLCO1B1	HGNC	HGNC:10959	protein_coding	YES	CCDS8685.1	ENSP00000256958	Q9Y6L6	A0A024RAU7	UPI0000043BED	NM_006446.4			6/15		Gene3D:1.20.1250.20,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF82,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	57	21178644	21178644	G	-	1	0	1	0	1	0	0	0	0	15009	1000	35	0		0	SLCO1B1	12	21178644	Frame_Shift_Del	DEL	G	C3N-00560_TP	5910	21178644	112096665	849	18788											
RECQL	0	.	GRCh38	chr12	21491658	21491658	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctttccgtaagttcttgAatttgaatttctactgcatg	8	18	7	8	1	2	2	0	2	2	0	3	2	3	2	2	0	3	3	2	0	4	7	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.75T>G	p.Ile25Met	p.I25M	ENST00000444129	3/15	210	176	34	208	208	0	strelka-varscan-mutect	RECQL,missense_variant,p.Ile25Met,ENST00000444129,NM_032941.2,NM_002907.3;RECQL,missense_variant,p.Ile25Met,ENST00000421138,;RECQL,missense_variant,p.Ile25Met,ENST00000314748,;RECQL,missense_variant,p.Ile25Met,ENST00000396093,;RECQL,missense_variant,p.Ile25Met,ENST00000542432,;RECQL,missense_variant,p.Ile25Met,ENST00000539672,;RECQL,missense_variant,p.Ile25Met,ENST00000536964,;RECQL,missense_variant,p.Ile25Met,ENST00000536240,;	C	ENST00000444129	Transcript	missense_variant	544/3702	75/1950	25/649	I/M	atT/atG		1		-1	RECQL	HGNC	HGNC:9948	protein_coding	YES	CCDS31756.1	ENSP00000416739	P46063	A0A024RAV2	UPI0000167E2F	NM_032941.2,NM_002907.3	tolerated(0.06)		3/15		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF72																	MODERATE	1	SNV	2			1										PASS		rs1327715764	.												C	3	2	57	21491658	21491658	A	C	1	0	0	0	0	1	0	0	0	13371	242	9	5		5	RECQL	12	21491658	Missense_Mutation	SNP	A	C3N-00560_TP	313014	21491658	111783651	850	18789											
ETNK1	0	.	GRCh38	chr12	22625250	22625250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttcagctgctgtccagacCcggatcggcaacagtgccgc	8	7	12	14	3	1	1	1	0	0	1	3	2	2	2	3	2	4	4	3	2	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.87C>T	p.=	p.T29T	ENST00000266517	1/8	196	124	72	157	157	0	strelka-varscan-mutect	ETNK1,synonymous_variant,p.=,ENST00000266517,NM_018638.4;ETNK1,synonymous_variant,p.=,ENST00000538218,;ETNK1,synonymous_variant,p.=,ENST00000335148,NM_001039481.1;ETNK1,upstream_gene_variant,,ENST00000545979,;RP11-268P4.4,upstream_gene_variant,,ENST00000542076,;	T	ENST00000266517	Transcript	synonymous_variant	176/7159	87/1359	29/452	T	acC/acT		1		1	ETNK1	HGNC	HGNC:24649	protein_coding	YES	CCDS8698.1	ENSP00000266517	Q9HBU6		UPI0000129E2F	NM_018638.4			1/8		hmmpanther:PTHR22603,hmmpanther:PTHR22603:SF22																	LOW	1	SNV	1			1										PASS		rs1434311430	.												T	2	4	57	22625250	22625250	C	T	1	0	0	0	0	0	0	0	1	5136	610	22	3		3	ETNK1	12	22625250	Silent	SNP	C	C3N-00560_TP	1133592	22625250	110650059	851	18790											
ASUN	0	.	GRCh38	chr12	26917715	26917715	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgagccttctcgactgccgCcacctagatgcgaatcacct	9	8	8	16	4	2	1	1	0	1	1	3	4	2	1	5	0	3	0	5	0	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.908G>C	p.Gly303Ala	p.G303A	ENST00000261191	9/17	128	107	21	167	167	0	strelka-varscan-mutect	ASUN,missense_variant,p.Gly303Ala,ENST00000261191,NM_018164.2;ASUN,missense_variant,p.Gly7Ala,ENST00000538155,;ASUN,intron_variant,,ENST00000536232,;ASUN,non_coding_transcript_exon_variant,,ENST00000542392,;	G	ENST00000261191	Transcript	missense_variant	1445/2974	908/2121	303/706	G/A	gGc/gCc		1		-1	ASUN	HGNC	HGNC:20174	protein_coding	YES	CCDS8708.1	ENSP00000261191	Q9NVM9		UPI0000044950	NM_018164.2	tolerated(0.77)		9/17		hmmpanther:PTHR12955,hmmpanther:PTHR12955:SF1,Pfam_domain:PF10221																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	26917715	26917715	C	G	1	0	0	0	0	1	0	0	0	1213	739	26	4		4	ASUN	12	26917715	Missense_Mutation	SNP	C	C3N-00560_TP	4292465	26917715	106357594	852	18791											
OVCH1	0	.	GRCh38	chr12	29471891	29471891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagaaacctcagacccacCtgccatggccaacagtgggg	11	5	10	15	0	1	2	1	0	0	2	1	2	1	2	6	3	3	0	6	3	3	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1767G>A	p.=	p.Q589Q	ENST00000318184	16/28	220	179	41	231	231	0	strelka-varscan-mutect	OVCH1,synonymous_variant,p.=,ENST00000318184,NM_183378.2;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;	T	ENST00000318184	Transcript	synonymous_variant	1767/3405	1767/3405	589/1134	Q	caG/caA		1		-1	OVCH1	HGNC	HGNC:23080	protein_coding	YES		ENSP00000326708	Q7RTY7		UPI000040640A	NM_183378.2			16/28		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24251,hmmpanther:PTHR24251:SF17,SMART_domains:SM00020,Superfamily_domains:SSF50494																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	57	29471891	29471891	C	T	1	0	0	0	0	0	0	0	1	11393	680	24	3		3	OVCH1	12	29471891	Silent	SNP	C	C3N-00560_TP	2554176	29471891	103803418	853	18792											
TSPAN11	0	.	GRCh38	chr12	30979625	30979625	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagaactacgggcagccCggagccacgcagatcaccgc	10	3	13	15	4	1	2	1	1	0	2	1	4	1	3	3	2	4	3	3	2	2	1			C3N-00560_TP	C3N-00560_NB	C	C																c.411C>A	p.=	p.P137P	ENST00000261177	5/8	271	203	68	208	208	0	strelka-varscan-mutect	TSPAN11,synonymous_variant,p.=,ENST00000261177,NM_001080509.2;TSPAN11,synonymous_variant,p.=,ENST00000546076,;TSPAN11,synonymous_variant,p.=,ENST00000535215,;RP11-551L14.4,intron_variant,,ENST00000613860,;RP11-551L14.4,upstream_gene_variant,,ENST00000612219,;	A	ENST00000261177	Transcript	synonymous_variant	470/5505	411/762	137/253	P	ccC/ccA	COSM938678	1		1	TSPAN11	HGNC	HGNC:30795	protein_coding	YES	CCDS31765.1	ENSP00000261177	A1L157		UPI00001AE7E4	NM_001080509.2			5/8		hmmpanther:PTHR19282:SF198,hmmpanther:PTHR19282,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Superfamily_domains:0037997											1						LOW	1	SNV	1		1	1										PASS		rs1450737382	.												A	2	1	57	30979625	30979625	C	A	1	0	0	0	0	0	0	0	1	17140	639	23	1		1	TSPAN11	12	30979625	Silent	SNP	C	C3N-00560_TP	1507734	30979625	102295684	854	18793											
BICD1	0	.	GRCh38	chr12	32328418	32328418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtctcgtcaaagagcaGcggctcgggagctagccccc	9	6	12	14	3	2	1	1	0	1	1	4	2	2	2	2	2	5	3	2	2	3	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1963G>T	p.Ala655Ser	p.A655S	ENST00000281474	5/10	243	160	83	269	269	0	strelka-varscan-mutect	BICD1,missense_variant,p.Ala655Ser,ENST00000548411,NM_001003398.1;BICD1,missense_variant,p.Ala655Ser,ENST00000281474,NM_001714.2;BICD1,missense_variant,p.Ala7Ser,ENST00000547680,;BICD1,missense_variant,p.Ala655Ser,ENST00000395758,;	T	ENST00000281474	Transcript	missense_variant	2066/3281	1963/2928	655/975	A/S	Gcg/Tcg		1		1	BICD1	HGNC	HGNC:1049	protein_coding	YES	CCDS8726.1	ENSP00000281474	Q96G01		UPI00001AEA67	NM_001714.2	tolerated(0.07)		5/10		hmmpanther:PTHR31233,hmmpanther:PTHR31233:SF3,Pfam_domain:PF09730																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	32328418	32328418	G	T	1	0	0	0	0	1	0	0	0	1577	971	34	2		2	BICD1	12	32328418	Missense_Mutation	SNP	G	C3N-00560_TP	1348793	32328418	100946891	855	18794											
PKP2	0	.	GRCh38	chr12	32869023	32869023	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtggtctgcctcgagcatActcactgctcgctccagagt	7	11	10	13	2	2	1	1	0	1	1	5	2	3	1	2	1	4	3	2	1	1	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1074T>A	p.Ser358Arg	p.S358R	ENST00000070846	4/14	355	296	59	337	337	0	strelka-varscan-mutect	PKP2,missense_variant,p.Ser358Arg,ENST00000340811,NM_001005242.2;PKP2,missense_variant,p.Ser358Arg,ENST00000070846,NM_004572.3;	T	ENST00000070846	Transcript	missense_variant	1099/4241	1074/2646	358/881	S/R	agT/agA		1		-1	PKP2	HGNC	HGNC:9024	protein_coding	YES	CCDS8731.1	ENSP00000070846	Q99959		UPI000013C576	NM_004572.3	deleterious(0.03)		4/14		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF25,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	32869023	32869023	A	T	1	0	0	0	0	1	0	0	0	12081	388	14	4		4	PKP2	12	32869023	Missense_Mutation	SNP	A	C3N-00560_TP	540605	32869023	100406286	856	18795											
CPNE8	0	.	GRCh38	chr12	38829404	38829404	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtttttccaggcgacttcCctgtgaaccaacgatctctc	7	13	8	13	2	1	1	0	1	1	0	5	3	3	1	3	2	2	1	3	2	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.382G>T	p.Gly128Ter	p.G128*	ENST00000331366	6/20	140	99	41	166	166	0	strelka-varscan-mutect	CPNE8,stop_gained,p.Gly128Ter,ENST00000331366,NM_153634.2;CPNE8,stop_gained,p.Gly116Ter,ENST00000360449,;CPNE8,5_prime_UTR_variant,,ENST00000550863,;	A	ENST00000331366	Transcript	stop_gained	479/3489	382/1695	128/564	G/*	Gga/Tga		1		-1	CPNE8	HGNC	HGNC:23498	protein_coding	YES	CCDS8733.1	ENSP00000329748	Q86YQ8		UPI000015FF59	NM_153634.2			6/20		hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF9,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	HIGH	1	SNV	1			1										PASS		rs1415696432	.												A	4	1	57	38829404	38829404	C	A	1	0	0	0	0	0	1	0	0	3613	632	22	2		2	CPNE8	12	38829404	Nonsense_Mutation	SNP	C	C3N-00560_TP	5960381	38829404	94445905	857	18796											
SLC2A13	0	.	GRCh38	chr12	40028487	40028487	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactgtataaccgccggaaCtgctgcaagtcccaacatgt	13	8	8	12	2	0	0	0	0	0	0	1	1	1	1	3	1	6	3	3	1	6	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.739G>C	p.Val247Leu	p.V247L	ENST00000280871	3/10	191	160	31	198	197	1	varscan-mutect	SLC2A13,missense_variant,p.Val247Leu,ENST00000280871,NM_052885.3;SLC2A13,missense_variant,p.Val247Leu,ENST00000380858,;	G	ENST00000280871	Transcript	missense_variant	790/7003	739/1947	247/648	V/L	Gtt/Ctt		1		-1	SLC2A13	HGNC	HGNC:15956	protein_coding	YES	CCDS8736.2	ENSP00000280871	Q96QE2		UPI000066D913	NM_052885.3	tolerated(0.32)		3/10		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR23500,hmmpanther:PTHR23500:SF89,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	40028487	40028487	C	G	1	0	0	0	0	1	0	0	0	14812	565	20	4		4	SLC2A13	12	40028487	Missense_Mutation	SNP	C	C3N-00560_TP	1199083	40028487	93246822	858	18797											
CNTN1	0	.	GRCh38	chr12	40929860	40929860	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaatggataaacggcgAtttgtgtctcagacaaatgg	14	10	10	7	2	2	1	2	0	1	1	3	3	2	2	0	3	1	0	0	3	4	2	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.561A>T	p.=	p.R187R	ENST00000551295	7/24	350	294	56	418	418	0	strelka-varscan-mutect	CNTN1,synonymous_variant,p.=,ENST00000551295,NM_001843.3;CNTN1,synonymous_variant,p.=,ENST00000347616,;CNTN1,synonymous_variant,p.=,ENST00000348761,NM_175038.2;CNTN1,synonymous_variant,p.=,ENST00000547849,NM_001256064.1;CNTN1,synonymous_variant,p.=,ENST00000547702,NM_001256063.1;	T	ENST00000551295	Transcript	synonymous_variant	678/5557	561/3057	187/1018	R	cgA/cgT		1		1	CNTN1	HGNC	HGNC:2171	protein_coding	YES	CCDS8737.1	ENSP00000447006	Q12860	A0A024R104	UPI0000127EBA	NM_001843.3			7/24		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	40929860	40929860	A	T	1	0	0	0	0	0	0	0	1	3421	320	12	4		4	CNTN1	12	40929860	Silent	SNP	A	C3N-00560_TP	901373	40929860	92345449	859	18798											
PDZRN4	0	.	GRCh38	chr12	41188674	41188674	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgccgctgcgcagcctCatccagaagctgcgagtcca	7	7	12	15	3	1	1	1	0	0	1	3	2	3	1	4	0	6	4	4	0	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.219C>A	p.=	p.L73L	ENST00000402685	1/10	235	195	40	227	227	0	strelka-varscan-mutect	PDZRN4,synonymous_variant,p.=,ENST00000402685,NM_001164595.1;	A	ENST00000402685	Transcript	synonymous_variant	227/3347	219/3111	73/1036	L	ctC/ctA		1		1	PDZRN4	HGNC	HGNC:30552	protein_coding	YES	CCDS53777.1	ENSP00000384197	Q6ZMN7		UPI0000D621D0	NM_001164595.1			1/10		Gene3D:3.30.40.10,Superfamily_domains:SSF57850																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	57	41188674	41188674	C	A	1	0	0	0	0	0	0	0	1	11798	813	29	2		2	PDZRN4	12	41188674	Silent	SNP	C	C3N-00560_TP	258814	41188674	92086635	860	18799											
ADAMTS20	0	.	GRCh38	chr12	43375493	43375493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctactcccattaaaaggacAttgatatggattttttagtc	12	16	6	7	0	1	1	0	1	1	0	3	3	2	3	1	2	1	0	1	2	5	7	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.5332T>C	p.Cys1778Arg	p.C1778R	ENST00000389420	36/39	120	94	26	180	180	0	strelka-varscan-mutect	ADAMTS20,missense_variant,p.Cys1778Arg,ENST00000389420,NM_025003.3;	G	ENST00000389420	Transcript	missense_variant	5332/6076	5332/5733	1778/1910	C/R	Tgt/Cgt		1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3	deleterious(0)		36/39		PROSITE_profiles:PS51046,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF08685																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	43375493	43375493	A	G	1	0	0	0	0	1	0	0	0	310	217	8	5		5	ADAMTS20	12	43375493	Missense_Mutation	SNP	A	C3N-00560_TP	2186819	43375493	89899816	861	18800											
ADAMTS20	0	.	GRCh38	chr12	43383599	43383599	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacaatgtaattgcaaggagGgttcctgcaattcttggatg	11	12	11	7	0	1	0	0	0	1	0	2	2	2	2	1	3	2	4	1	3	4	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4756C>G	p.Pro1586Ala	p.P1586A	ENST00000389420	31/39	66	44	22	88	88	0	strelka-varscan-mutect	ADAMTS20,missense_variant,p.Pro1586Ala,ENST00000389420,NM_025003.3;	C	ENST00000389420	Transcript	missense_variant	4756/6076	4756/5733	1586/1910	P/A	Cct/Gct		1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3	tolerated(0.77)		31/39																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	43383599	43383599	G	C	1	0	0	0	0	1	0	0	0	310	1232	43	4		4	ADAMTS20	12	43383599	Missense_Mutation	SNP	G	C3N-00560_TP	8106	43383599	89891710	862	18801											
ARID2	0	.	GRCh38	chr12	45839443	45839443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatgttatctgaaattaGgccacaagctatagagcaag	16	10	8	7	0	2	2	1	1	1	1	2	2	2	2	1	1	2	3	1	1	8	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1445G>T	p.Arg482Met	p.R482M	ENST00000334344	11/21	148	109	39	132	132	0	strelka-varscan-mutect	ARID2,missense_variant,p.Arg482Met,ENST00000334344,NM_152641.2;ARID2,missense_variant,p.Arg92Met,ENST00000444670,;ARID2,missense_variant,p.Arg333Met,ENST00000422737,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;ARID2,non_coding_transcript_exon_variant,,ENST00000480128,;	T	ENST00000334344	Transcript	missense_variant	1617/8642	1445/5508	482/1835	R/M	aGg/aTg		1		1	ARID2	HGNC	HGNC:18037	protein_coding	YES	CCDS31783.1	ENSP00000335044	Q68CP9		UPI00001D7973	NM_152641.2	deleterious(0)		11/21		hmmpanther:PTHR22970,hmmpanther:PTHR22970:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	45839443	45839443	G	T	1	0	0	0	0	1	0	0	0	1051	1000	35	2		2	ARID2	12	45839443	Missense_Mutation	SNP	G	C3N-00560_TP	2455844	45839443	87435866	863	18802											
COL2A1	0	.	GRCh38	chr12	47997683	47997683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtcccaggttctccatCtctgccacgaggtccagggg	6	8	14	13	1	2	0	0	0	2	0	6	1	4	0	4	6	1	1	4	6	0	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.454G>T	p.Asp152Tyr	p.D152Y	ENST00000380518	7/54	396	318	78	387	387	0	strelka-varscan-mutect	COL2A1,missense_variant,p.Asp152Tyr,ENST00000380518,NM_001844.4;COL2A1,missense_variant,p.Asp83Tyr,ENST00000337299,NM_033150.2;COL2A1,non_coding_transcript_exon_variant,,ENST00000474996,;COL2A1,downstream_gene_variant,,ENST00000465743,;COL2A1,downstream_gene_variant,,ENST00000466884,;COL2A1,downstream_gene_variant,,ENST00000490609,;	A	ENST00000380518	Transcript	missense_variant	619/5071	454/4464	152/1487	D/Y	Gat/Tat		1		-1	COL2A1	HGNC	HGNC:2200	protein_coding	YES	CCDS41778.1	ENSP00000369889	P02458		UPI0000D79713	NM_001844.4	deleterious(0)		7/54		Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	47997683	47997683	C	A	1	0	0	0	0	1	0	0	0	3476	913	32	2		2	COL2A1	12	47997683	Missense_Mutation	SNP	C	C3N-00560_TP	2158240	47997683	85277626	864	18803											
SPATS2	0	.	GRCh38	chr12	49526169	49526169	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggaactggagtcagcatgGagcccagccctcccacgcct	9	6	11	15	1	1	0	1	0	0	0	2	3	2	3	4	3	4	1	4	3	1	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1552G>T	p.Glu518Ter	p.E518*	ENST00000553127	15/15	298	245	53	274	274	0	strelka-varscan-mutect	SPATS2,stop_gained,p.Glu518Ter,ENST00000553127,NM_001293285.1;SPATS2,stop_gained,p.Glu518Ter,ENST00000321898,NM_001293286.1;SPATS2,stop_gained,p.Glu518Ter,ENST00000552918,NM_023071.3;SPATS2,non_coding_transcript_exon_variant,,ENST00000547003,;SPATS2,3_prime_UTR_variant,,ENST00000549412,;SPATS2,downstream_gene_variant,,ENST00000548727,;	T	ENST00000553127	Transcript	stop_gained	2065/3320	1552/1638	518/545	E/*	Gag/Tag		1		1	SPATS2	HGNC	HGNC:18650	protein_coding	YES	CCDS31794.1	ENSP00000448228	Q86XZ4	A0A024R101	UPI0000171C5F	NM_001293285.1			15/15		hmmpanther:PTHR15623,hmmpanther:PTHR15623:SF10																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	49526169	49526169	G	T	1	0	0	0	0	0	1	0	0	15365	1175	41	2		2	SPATS2	12	49526169	Nonsense_Mutation	SNP	G	C3N-00560_TP	1528486	49526169	83749140	865	18804											
KCNH3	0	.	GRCh38	chr12	49549139	49549139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccaacacggacaccgaGaagatcttctccatctgcac	11	7	7	16	3	3	2	0	0	3	2	5	4	4	3	4	1	2	1	4	1	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1434G>T	p.Glu478Asp	p.E478D	ENST00000257981	8/15	80	66	14	59	59	0	strelka-varscan-mutect	KCNH3,missense_variant,p.Glu478Asp,ENST00000257981,NM_001314030.1,NM_012284.1;KCNH3,downstream_gene_variant,,ENST00000551415,;	T	ENST00000257981	Transcript	missense_variant	1694/3867	1434/3252	478/1083	E/D	gaG/gaT		1		1	KCNH3	HGNC	HGNC:6252	protein_coding	YES	CCDS8786.1	ENSP00000257981	Q9ULD8		UPI000012DCA6	NM_001314030.1,NM_012284.1	deleterious(0.01)		8/15		hmmpanther:PTHR10217:SF481,hmmpanther:PTHR10217,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR01463																	MODERATE	1	SNV	1			1										PASS		rs1211350694	.												T	3	4	57	49549139	49549139	G	T	1	0	0	0	0	1	0	0	0	7949	933	33	2		2	KCNH3	12	49549139	Missense_Mutation	SNP	G	C3N-00560_TP	22970	49549139	83726170	866	18805											
NCKAP5L	0	.	GRCh38	chr12	49796601	49796601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatgggggtggccaggcCgagagcccagtggggcatcc	8	4	19	10	1	0	1	0	0	0	1	1	3	1	2	4	7	1	1	4	7	1	0	rs775598664		C3N-00560_TP	C3N-00560_NB	C	C																c.1259G>C	p.Arg420Pro	p.R420P	ENST00000335999	8/13	34	22	12	45	45	0	strelka-varscan-mutect	NCKAP5L,missense_variant,p.Arg420Pro,ENST00000335999,NM_001037806.3;NCKAP5L,missense_variant,p.Arg135Pro,ENST00000433948,;	G	ENST00000335999	Transcript	missense_variant	1461/4900	1259/4005	420/1334	R/P	cGg/cCg	rs775598664	1		-1	NCKAP5L	HGNC	HGNC:29321	protein_coding	YES	CCDS41781.2	ENSP00000337998	Q9HCH0		UPI00006C1298	NM_001037806.3	deleterious_low_confidence(0.05)		8/13		hmmpanther:PTHR21740																	MODERATE	1	SNV	5			1										PASS		rs775598664	.												G	3	3	57	49796601	49796601	C	G	1	0	0	0	0	1	0	0	0	10242	652	23	4		4	NCKAP5L	12	49796601	Missense_Mutation	SNP	C	C3N-00560_TP	247462	49796601	83478708	867	18806											
FAM186A	0	.	GRCh38	chr12	50352439	50352439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagggatccccaattcctGagcctgctgaggggtgagag	9	7	16	9	0	0	4	0	3	0	2	2	7	2	5	4	3	2	1	4	3	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4393C>A	p.Gln1465Lys	p.Q1465K	ENST00000327337	4/8	336	305	31	394	393	1	varscan-mutect	FAM186A,missense_variant,p.Gln1465Lys,ENST00000543111,;FAM186A,missense_variant,p.Gln1465Lys,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,;	T	ENST00000327337	Transcript	missense_variant	4393/7127	4393/7056	1465/2351	Q/K	Cag/Aag		1		-1	FAM186A	HGNC	HGNC:26980	protein_coding	YES	CCDS44878.1	ENSP00000329995	A6NE01		UPI00001D7978	NM_001145475.1	tolerated(0.1)		4/8																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	50352439	50352439	G	T	1	0	0	0	0	1	0	0	0	5361	1299	45	2		2	FAM186A	12	50352439	Missense_Mutation	SNP	G	C3N-00560_TP	555838	50352439	82922870	868	18807											
FAM186A	0	.	GRCh38	chr12	50352605	50352605	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctgctgaggggtgagaggGatccccagttcctgagcctg	6	8	16	11	0	0	3	0	3	0	1	2	5	2	4	5	3	2	2	5	3	0	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4227C>A	p.=	p.I1409I	ENST00000327337	4/8	335	273	62	426	426	0	strelka-varscan-mutect	FAM186A,synonymous_variant,p.=,ENST00000543111,;FAM186A,synonymous_variant,p.=,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,;	T	ENST00000327337	Transcript	synonymous_variant	4227/7127	4227/7056	1409/2351	I	atC/atA		1		-1	FAM186A	HGNC	HGNC:26980	protein_coding	YES	CCDS44878.1	ENSP00000329995	A6NE01		UPI00001D7978	NM_001145475.1			4/8		hmmpanther:PTHR33590,hmmpanther:PTHR33590:SF2																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	57	50352605	50352605	G	T	1	0	0	0	0	0	0	0	1	5361	1164	41	2		2	FAM186A	12	50352605	Silent	SNP	G	C3N-00560_TP	166	50352605	82922704	869	18808											
FAM186A	0	.	GRCh38	chr12	50352983	50352983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatccccaattcctgagcCtgcttaggggtgagagtgat	8	10	14	9	0	0	3	0	3	0	1	2	5	2	4	4	3	2	1	4	3	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3849G>T	p.Gln1283His	p.Q1283H	ENST00000327337	4/8	196	159	37	216	216	0	strelka-varscan-mutect	FAM186A,missense_variant,p.Gln1283His,ENST00000543111,;FAM186A,missense_variant,p.Gln1283His,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,;	A	ENST00000327337	Transcript	missense_variant	3849/7127	3849/7056	1283/2351	Q/H	caG/caT		1		-1	FAM186A	HGNC	HGNC:26980	protein_coding	YES	CCDS44878.1	ENSP00000329995	A6NE01		UPI00001D7978	NM_001145475.1	deleterious(0.03)		4/8		hmmpanther:PTHR33590,hmmpanther:PTHR33590:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	50352983	50352983	C	A	1	0	0	0	0	1	0	0	0	5361	680	24	2		2	FAM186A	12	50352983	Missense_Mutation	SNP	C	C3N-00560_TP	378	50352983	82922326	870	18809											
NR4A1	0	.	GRCh38	chr12	52054988	52054988	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacccaccagctgggggaGggagagagctattccatgcc	9	5	14	13	0	0	1	0	0	0	1	1	4	1	3	5	3	3	2	5	3	1	2	rs749848012		C3N-00560_TP	C3N-00560_NB	G	G																c.822G>A	p.=	p.E274E	ENST00000545748	3/8	246	156	90	234	234	0	strelka-varscan-mutect	NR4A1,synonymous_variant,p.=,ENST00000545748,NM_001202234.1;NR4A1,synonymous_variant,p.=,ENST00000243050,NM_002135.4;NR4A1,synonymous_variant,p.=,ENST00000394824,;NR4A1,synonymous_variant,p.=,ENST00000360284,NM_001202233.1;NR4A1,synonymous_variant,p.=,ENST00000394825,NM_173157.2;NR4A1,synonymous_variant,p.=,ENST00000550082,;NR4A1,synonymous_variant,p.=,ENST00000546842,;NR4A1,synonymous_variant,p.=,ENST00000548232,;NR4A1,intron_variant,,ENST00000550763,;NR4A1,downstream_gene_variant,,ENST00000562373,;NR4A1,upstream_gene_variant,,ENST00000550582,;NR4A1,downstream_gene_variant,,ENST00000548977,;RP11-1100L3.8,downstream_gene_variant,,ENST00000564363,;RP11-1100L3.8,downstream_gene_variant,,ENST00000564531,;NR4A1,intron_variant,,ENST00000548733,;NR4A1,downstream_gene_variant,,ENST00000547206,;NR4A1,non_coding_transcript_exon_variant,,ENST00000550557,;NR4A1,non_coding_transcript_exon_variant,,ENST00000478250,;NR4A1,upstream_gene_variant,,ENST00000564201,;NR4A1,upstream_gene_variant,,ENST00000565848,;NR4A1,upstream_gene_variant,,ENST00000567890,;NR4A1,downstream_gene_variant,,ENST00000549102,;NR4A1,upstream_gene_variant,,ENST00000550339,;	A	ENST00000545748	Transcript	synonymous_variant	1817/3511	822/1959	274/652	E	gaG/gaA	rs749848012	1		1	NR4A1	HGNC	HGNC:7980	protein_coding	YES	CCDS73471.1	ENSP00000440864		F5GXF0	UPI0000D621F3	NM_001202234.1			3/8		hmmpanther:PTHR24085:SF1,hmmpanther:PTHR24085,Prints_domain:PR01285																	LOW	1	SNV	2			1										PASS		rs749848012	.												A	2	1	57	52054988	52054988	G	A	1	0	0	0	0	0	0	0	1	10688	991	35	3		3	NR4A1	12	52054988	Silent	SNP	G	C3N-00560_TP	1702005	52054988	81220321	871	18810											
KRT71	0	.	GRCh38	chr12	52550043	52550043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctcttcttgtagtcCtccactacgtcccgcacatt	6	13	5	17	2	3	0	1	0	2	0	6	0	6	0	4	0	1	3	4	0	2	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.642G>A	p.=	p.E214E	ENST00000267119	2/9	235	191	44	207	207	0	strelka-varscan-mutect	KRT71,synonymous_variant,p.=,ENST00000267119,NM_033448.2;	T	ENST00000267119	Transcript	synonymous_variant	712/2265	642/1572	214/523	E	gaG/gaA		1		-1	KRT71	HGNC	HGNC:28927	protein_coding	YES	CCDS8831.1	ENSP00000267119	Q3SY84		UPI0000052B57	NM_033448.2			2/9		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,Prints_domain:PR01276,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF116,SMART_domains:SM01391,Superfamily_domains:SSF64593																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	52550043	52550043	C	T	1	0	0	0	0	0	0	0	1	8366	680	24	3		3	KRT71	12	52550043	Silent	SNP	C	C3N-00560_TP	495055	52550043	80725266	872	18811											
KRT79	0	.	GRCh38	chr12	52834249	52834249	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtatgtttgccgagagacGgaggacctcatagctgcaga	11	8	14	8	2	1	2	1	0	0	2	1	7	1	4	2	2	3	4	2	2	2	3	rs367871997		C3N-00560_TP	C3N-00560_NB	G	G																c.12C>A	p.=	p.S4S	ENST00000330553	1/9	282	174	108	249	248	1	strelka-varscan-mutect	KRT79,synonymous_variant,p.=,ENST00000330553,NM_175834.2;KRT78,downstream_gene_variant,,ENST00000359499,NM_001300814.1;KRT78,downstream_gene_variant,,ENST00000304620,NM_173352.3;KRT78,downstream_gene_variant,,ENST00000547920,;KRT79,upstream_gene_variant,,ENST00000546453,;RP11-153F5.3,upstream_gene_variant,,ENST00000550463,;	T	ENST00000330553	Transcript	synonymous_variant	47/2068	12/1608	4/535	S	tcC/tcA	rs367871997,COSM3462511	1		-1	KRT79	HGNC	HGNC:28930	protein_coding	YES	CCDS8839.1	ENSP00000328358	Q5XKE5		UPI0000198204	NM_175834.2			1/9													0,1						LOW	1	SNV	1		0,1	1										PASS		rs367871997	.												T	2	4	57	52834249	52834249	G	T	1	0	0	0	0	0	0	0	1	8374	1103	39	1		1	KRT79	12	52834249	Silent	SNP	G	C3N-00560_TP	284206	52834249	80441060	873	18812											
PFDN5	0	.	GRCh38	chr12	53295602	53295602	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacatcacggagctgaatcTgccgcagctagaaatgctca	13	8	9	11	2	3	2	2	1	1	1	3	3	3	3	1	1	5	4	1	1	4	2	rs199718276		C3N-00560_TP	C3N-00560_NB	T	T																c.35T>A	p.Leu12Gln	p.L12Q	ENST00000551018	1/6	202	130	72	226	225	1	strelka-varscan-mutect	PFDN5,missense_variant,p.Leu12Gln,ENST00000551018,NM_002624.3;PFDN5,missense_variant,p.Leu12Gln,ENST00000334478,;PFDN5,missense_variant,p.Leu8Gln,ENST00000549759,;PFDN5,missense_variant,p.Leu12Gln,ENST00000351500,NM_145897.2;PFDN5,missense_variant,p.Leu12Gln,ENST00000550846,;PFDN5,missense_variant,p.Leu12Gln,ENST00000628881,;ESPL1,downstream_gene_variant,,ENST00000257934,NM_012291.4;ESPL1,downstream_gene_variant,,ENST00000552462,;C12orf10,upstream_gene_variant,,ENST00000267103,NM_021640.3;C12orf10,upstream_gene_variant,,ENST00000548632,;C12orf10,upstream_gene_variant,,ENST00000549488,;RP11-680A11.5,downstream_gene_variant,,ENST00000550263,;PFDN5,missense_variant,p.Leu12Gln,ENST00000550880,;PFDN5,missense_variant,p.Leu12Gln,ENST00000552742,;PFDN5,missense_variant,p.Leu12Gln,ENST00000243040,;PFDN5,missense_variant,p.Leu12Gln,ENST00000547130,;PFDN5,non_coding_transcript_exon_variant,,ENST00000552341,;PFDN5,non_coding_transcript_exon_variant,,ENST00000550513,;PFDN5,non_coding_transcript_exon_variant,,ENST00000547228,;PFDN5,non_coding_transcript_exon_variant,,ENST00000550069,;PFDN5,non_coding_transcript_exon_variant,,ENST00000549995,;PFDN5,non_coding_transcript_exon_variant,,ENST00000551223,;ESPL1,downstream_gene_variant,,ENST00000552671,;ESPL1,downstream_gene_variant,,ENST00000549154,;C12orf10,upstream_gene_variant,,ENST00000548845,;C12orf10,upstream_gene_variant,,ENST00000551670,;PFDN5,upstream_gene_variant,,ENST00000550964,;C12orf10,upstream_gene_variant,,ENST00000551131,;PFDN5,upstream_gene_variant,,ENST00000548984,;PFDN5,upstream_gene_variant,,ENST00000552548,;PFDN5,upstream_gene_variant,,ENST00000553171,;	A	ENST00000551018	Transcript	missense_variant	312/847	35/465	12/154	L/Q	cTg/cAg	rs199718276,COSM1261971	1		1	PFDN5	HGNC	HGNC:8869	protein_coding	YES	CCDS8853.1	ENSP00000447942	Q99471		UPI00000009FD	NM_002624.3	deleterious(0)		1/6		HAMAP:MF_00308,hmmpanther:PTHR12674:SF2,hmmpanther:PTHR12674,TIGRFAM_domain:TIGR00293,Gene3D:1.10.287.370,Superfamily_domains:SSF46579											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs199718276	.												A	3	1	57	53295602	53295602	T	A	1	0	0	0	0	1	0	0	0	11848	1580	55	4		4	PFDN5	12	53295602	Missense_Mutation	SNP	T	C3N-00560_TP	461353	53295602	79979707	874	18813											
PMEL	0	.	GRCh38	chr12	55961704	55961704	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggttctgagttgccttgaGacaccaagccagtcctggtt	7	13	11	10	0	1	2	0	2	1	1	2	3	2	2	4	2	2	3	4	2	1	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.105C>T	p.=	p.V35V	ENST00000449260	2/11	185	151	34	185	185	0	strelka-varscan-mutect	PMEL,synonymous_variant,p.=,ENST00000548747,;PMEL,synonymous_variant,p.=,ENST00000552882,;PMEL,synonymous_variant,p.=,ENST00000548493,NM_006928.4;PMEL,synonymous_variant,p.=,ENST00000449260,NM_001200054.1;PMEL,synonymous_variant,p.=,ENST00000547137,;PMEL,synonymous_variant,p.=,ENST00000546543,;PMEL,synonymous_variant,p.=,ENST00000548803,;PMEL,synonymous_variant,p.=,ENST00000549233,;PMEL,synonymous_variant,p.=,ENST00000549418,;PMEL,intron_variant,,ENST00000550464,NM_001200053.1;PMEL,intron_variant,,ENST00000550447,;PMEL,upstream_gene_variant,,ENST00000549404,;PMEL,non_coding_transcript_exon_variant,,ENST00000548689,;PMEL,upstream_gene_variant,,ENST00000549564,;PMEL,non_coding_transcript_exon_variant,,ENST00000550590,;PMEL,non_coding_transcript_exon_variant,,ENST00000549430,;PMEL,non_coding_transcript_exon_variant,,ENST00000549413,;PMEL,upstream_gene_variant,,ENST00000556802,;	A	ENST00000449260	Transcript	synonymous_variant	116/2127	105/2007	35/668	V	gtC/gtT		1		-1	PMEL	HGNC	HGNC:10880	protein_coding	YES	CCDS55834.1	ENSP00000402758	P40967		UPI0000EE2701	NM_001200054.1			2/11		hmmpanther:PTHR11861,hmmpanther:PTHR11861:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	55961704	55961704	G	A	1	0	0	0	0	0	0	0	1	12238	929	33	3		3	PMEL	12	55961704	Silent	SNP	G	C3N-00560_TP	2666102	55961704	77313605	875	18814											
STAT2	0	.	GRCh38	chr12	56349258	56349258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatcaccacagggagggtgtCcgtctggggagaagacagga	12	5	16	8	1	2	2	1	0	1	2	3	5	3	4	2	5	0	0	2	5	2	0	rs766306027		C3N-00560_TP	C3N-00560_NB	C	C																c.1345G>C	p.Asp449His	p.D449H	ENST00000314128	16/24	183	151	32	177	177	0	strelka-varscan-mutect	STAT2,missense_variant,p.Asp449His,ENST00000314128,NM_005419.3;STAT2,missense_variant,p.Asp445His,ENST00000557235,NM_198332.1;STAT2,intron_variant,,ENST00000418572,;RNU7-40P,downstream_gene_variant,,ENST00000516397,;STAT2,non_coding_transcript_exon_variant,,ENST00000556539,;STAT2,downstream_gene_variant,,ENST00000557252,;STAT2,downstream_gene_variant,,ENST00000557156,;STAT2,downstream_gene_variant,,ENST00000556140,;STAT2,upstream_gene_variant,,ENST00000557199,;STAT2,downstream_gene_variant,,ENST00000555519,;STAT2,upstream_gene_variant,,ENST00000555488,;	G	ENST00000314128	Transcript	missense_variant	1369/3259	1345/2556	449/851	D/H	Gac/Cac	rs766306027	1		-1	STAT2	HGNC	HGNC:11363	protein_coding	YES	CCDS8917.1	ENSP00000315768	P52630	R9QE65	UPI00000473FC	NM_005419.3	deleterious(0.01)		16/24		Gene3D:2.60.40.630,Pfam_domain:PF02864,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF41,Superfamily_domains:SSF49417																	MODERATE	1	SNV	1			1										PASS		rs766306027	.												G	3	3	57	56349258	56349258	C	G	1	0	0	0	0	1	0	0	0	15641	869	30	4		4	STAT2	12	56349258	Missense_Mutation	SNP	C	C3N-00560_TP	387554	56349258	76926051	876	18815											
ZBTB39	0	.	GRCh38	chr12	57002872	57002872	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggggaggctgcctttgtgCacaccaacatgtttgctcat	7	11	13	10	0	1	0	1	0	0	0	1	1	1	1	2	4	4	4	2	4	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2046G>T	p.=	p.V682V	ENST00000300101	2/2	254	166	88	208	208	0	strelka-varscan-mutect	ZBTB39,synonymous_variant,p.=,ENST00000300101,NM_014830.2;GPR182,downstream_gene_variant,,ENST00000300098,NM_007264.3;GPR182,downstream_gene_variant,,ENST00000556850,;	A	ENST00000300101	Transcript	synonymous_variant	2132/6170	2046/2139	682/712	V	gtG/gtT		1		-1	ZBTB39	HGNC	HGNC:29014	protein_coding	YES	CCDS31839.1	ENSP00000300101	O15060		UPI0000139682	NM_014830.2			2/2		PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF218,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	57002872	57002872	C	A	1	0	0	0	0	0	0	0	1	18109	697	25	2		2	ZBTB39	12	57002872	Silent	SNP	C	C3N-00560_TP	653614	57002872	76272437	877	18816											
GLI1	0	.	GRCh38	chr12	57470834	57470834	+	Missense_Mutation	SNP	G	G	T																															atcactgagaatgctgccatGgatgctagagggctacagga																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2094G>T	p.Met698Ile	p.M698I	ENST00000228682	12/12	79	50	29	67	67	0	strelka-varscan-mutect	GLI1,missense_variant,p.Met698Ile,ENST00000228682,NM_005269.2;GLI1,missense_variant,p.Met657Ile,ENST00000546141,NM_001167609.1;GLI1,missense_variant,p.Met570Ile,ENST00000543426,NM_001160045.1;GLI1,missense_variant,p.Met657Ile,ENST00000528467,;ARHGAP9,downstream_gene_variant,,ENST00000393797,NM_001319850.1;ARHGAP9,downstream_gene_variant,,ENST00000550288,;ARHGAP9,downstream_gene_variant,,ENST00000393791,NM_032496.2;ARHGAP9,downstream_gene_variant,,ENST00000424809,NM_001080157.1;ARHGAP9,downstream_gene_variant,,ENST00000430041,NM_001080156.1;ARHGAP9,downstream_gene_variant,,ENST00000548139,;GLI1,downstream_gene_variant,,ENST00000532291,;ARHGAP9,downstream_gene_variant,,ENST00000550399,;ARHGAP9,downstream_gene_variant,,ENST00000550130,;MARS,upstream_gene_variant,,ENST00000549133,;ARHGAP9,downstream_gene_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000552953,;ARHGAP9,downstream_gene_variant,,ENST00000550440,;GLI1,downstream_gene_variant,,ENST00000527742,;ARHGAP9,downstream_gene_variant,,ENST00000546704,;	T	ENST00000228682	Transcript	missense_variant	2185/3613	2094/3321	698/1106	M/I	atG/atT		1		1	GLI1	HGNC	HGNC:4317	protein_coding	YES	CCDS8940.1	ENSP00000228682	P08151		UPI000012B607	NM_005269.2	deleterious(0.01)		12/12		hmmpanther:PTHR19818:SF2,hmmpanther:PTHR19818																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	57470834	57470834	G	T	1	0	0	0	0	1	0	0	0	6315	1348	47	2		2	GLI1	12	57470834	Missense_Mutation	SNP	G	C3N-00560_TP	467962	57470834	75804475	878	18817	399	2									
GLI1	0	.	GRCh38	chr12	57470835	57470835	+	Missense_Mutation	SNP	G	G	T																															tcactgagaatgctgccatgGatgctagagggctacaggaa																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2095G>T	p.Asp699Tyr	p.D699Y	ENST00000228682	12/12	77	48	29	68	68	0	strelka-varscan-mutect	GLI1,missense_variant,p.Asp699Tyr,ENST00000228682,NM_005269.2;GLI1,missense_variant,p.Asp658Tyr,ENST00000546141,NM_001167609.1;GLI1,missense_variant,p.Asp571Tyr,ENST00000543426,NM_001160045.1;GLI1,missense_variant,p.Asp658Tyr,ENST00000528467,;ARHGAP9,downstream_gene_variant,,ENST00000393797,NM_001319850.1;ARHGAP9,downstream_gene_variant,,ENST00000550288,;ARHGAP9,downstream_gene_variant,,ENST00000393791,NM_032496.2;ARHGAP9,downstream_gene_variant,,ENST00000424809,NM_001080157.1;ARHGAP9,downstream_gene_variant,,ENST00000430041,NM_001080156.1;ARHGAP9,downstream_gene_variant,,ENST00000548139,;GLI1,downstream_gene_variant,,ENST00000532291,;ARHGAP9,downstream_gene_variant,,ENST00000550399,;ARHGAP9,downstream_gene_variant,,ENST00000550130,;MARS,upstream_gene_variant,,ENST00000549133,;ARHGAP9,downstream_gene_variant,,ENST00000546200,;ARHGAP9,downstream_gene_variant,,ENST00000552953,;ARHGAP9,downstream_gene_variant,,ENST00000550440,;GLI1,downstream_gene_variant,,ENST00000527742,;ARHGAP9,downstream_gene_variant,,ENST00000546704,;	T	ENST00000228682	Transcript	missense_variant	2186/3613	2095/3321	699/1106	D/Y	Gat/Tat		1		1	GLI1	HGNC	HGNC:4317	protein_coding	YES	CCDS8940.1	ENSP00000228682	P08151		UPI000012B607	NM_005269.2	deleterious(0)		12/12		hmmpanther:PTHR19818:SF2,hmmpanther:PTHR19818																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	57470835	57470835	G	T	1	0	0	0	0	1	0	0	0	6315	1174	41	2		2	GLI1	12	57470835	Missense_Mutation	SNP	G	C3N-00560_TP	1	57470835	75804474	879	18818	399	2									
ARHGAP9	0	.	GRCh38	chr12	57476924	57476924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggggcctgcaaggctggagGgtcaagctgcgaggtgcgtt	7	7	19	8	2	1	0	1	0	0	0	1	2	1	1	1	6	4	4	1	6	2	1	rs533374298		C3N-00560_TP	C3N-00560_NB	G	G																c.910C>A	p.Pro304Thr	p.P304T	ENST00000393791	6/18	435	368	67	441	441	0	strelka-varscan-mutect	ARHGAP9,missense_variant,p.Pro375Thr,ENST00000393797,NM_001319850.1;ARHGAP9,missense_variant,p.Pro383Thr,ENST00000550288,;ARHGAP9,missense_variant,p.Pro304Thr,ENST00000393791,NM_032496.2;ARHGAP9,missense_variant,p.Pro304Thr,ENST00000424809,NM_001080157.1;ARHGAP9,missense_variant,p.Pro120Thr,ENST00000430041,NM_001080156.1;ARHGAP9,missense_variant,p.Pro120Thr,ENST00000548139,;ARHGAP9,missense_variant,p.Pro120Thr,ENST00000552066,;ARHGAP9,missense_variant,p.Pro157Thr,ENST00000551452,;ARHGAP9,intron_variant,,ENST00000552604,;GLI1,downstream_gene_variant,,ENST00000228682,NM_005269.2;GLI1,downstream_gene_variant,,ENST00000546141,NM_001167609.1;GLI1,downstream_gene_variant,,ENST00000543426,NM_001160045.1;GLI1,downstream_gene_variant,,ENST00000528467,;ARHGAP9,upstream_gene_variant,,ENST00000550399,;ARHGAP9,downstream_gene_variant,,ENST00000552249,;ARHGAP9,downstream_gene_variant,,ENST00000549602,;ARHGAP9,upstream_gene_variant,,ENST00000550130,;ARHGAP9,intron_variant,,ENST00000550454,;MARS,intron_variant,,ENST00000549133,;ARHGAP9,upstream_gene_variant,,ENST00000547200,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000546200,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000552420,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000548148,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000551574,;ARHGAP9,upstream_gene_variant,,ENST00000552953,;ARHGAP9,upstream_gene_variant,,ENST00000550440,;ARHGAP9,downstream_gene_variant,,ENST00000547216,;ARHGAP9,upstream_gene_variant,,ENST00000546704,;ARHGAP9,downstream_gene_variant,,ENST00000551000,;	T	ENST00000393791	Transcript	missense_variant	1049/2597	910/2196	304/731	P/T	Cct/Act	rs533374298	1		-1	ARHGAP9	HGNC	HGNC:14130	protein_coding	YES	CCDS8941.2	ENSP00000377380	Q9BRR9		UPI000007131B	NM_032496.2	tolerated(0.19)		6/18		Low_complexity_(Seg):seg,hmmpanther:PTHR23181:SF4,hmmpanther:PTHR23181																	MODERATE	1	SNV	1			1										PASS		rs533374298	.												T	3	4	57	57476924	57476924	G	T	1	0	0	0	0	1	0	0	0	1019	1232	43	2		2	ARHGAP9	12	57476924	Missense_Mutation	SNP	G	C3N-00560_TP	6089	57476924	75798385	880	18819											
WIF1	0	.	GRCh38	chr12	65062511	65062511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctctccctctagtcctgGagggcaaatacattttccag	8	12	8	13	0	2	0	0	0	2	0	5	1	4	1	3	2	2	2	3	2	3	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.796C>A	p.Pro266Thr	p.P266T	ENST00000286574	7/10	143	85	58	173	172	1	strelka-varscan-mutect	WIF1,missense_variant,p.Pro266Thr,ENST00000286574,NM_007191.4;WIF1,missense_variant,p.Pro29Thr,ENST00000543094,;	T	ENST00000286574	Transcript	missense_variant	1171/2238	796/1140	266/379	P/T	Cca/Aca		1		-1	WIF1	HGNC	HGNC:18081	protein_coding	YES	CCDS8971.1	ENSP00000286574	Q9Y5W5		UPI0000038BEE	NM_007191.4	tolerated(0.13)		7/10		Gene3D:2gy5A03,Pfam_domain:PF12661,PROSITE_patterns:PS00022,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		rs1482903439	.												T	3	4	57	65062511	65062511	G	T	1	0	0	0	0	1	0	0	0	17922	1174	41	2		2	WIF1	12	65062511	Missense_Mutation	SNP	G	C3N-00560_TP	7585587	65062511	68212798	881	18820											
KCNC2	0	.	GRCh38	chr12	75207454	75207454	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcgtcgtcgccggggtcgCcgccaatgaggtcgggggtc	3	7	17	14	7	0	1	0	1	0	0	6	1	0	1	4	5	0	0	4	5	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.530G>C	p.Gly177Ala	p.G177A	ENST00000549446	2/5	260	211	49	286	286	0	strelka-varscan-mutect	KCNC2,missense_variant,p.Gly177Ala,ENST00000549446,NM_139137.3;KCNC2,missense_variant,p.Gly177Ala,ENST00000298972,NM_139136.3;KCNC2,missense_variant,p.Gly177Ala,ENST00000350228,NM_153748.2;KCNC2,missense_variant,p.Gly177Ala,ENST00000548513,;KCNC2,missense_variant,p.Gly177Ala,ENST00000550433,NM_001260498.1;KCNC2,missense_variant,p.Gly177Ala,ENST00000393288,NM_001260497.1;KCNC2,missense_variant,p.Gly177Ala,ENST00000540018,NM_001260499.1;	G	ENST00000549446	Transcript	missense_variant	1211/5625	530/1917	177/638	G/A	gGc/gCc		1		-1	KCNC2	HGNC	HGNC:6234	protein_coding	YES	CCDS9007.1	ENSP00000449253	Q96PR1	A0A024RBA5	UPI000004DB9B	NM_139137.3	tolerated(0.37)		2/5		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF157																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	75207454	75207454	C	G	1	0	0	0	0	1	0	0	0	7931	739	26	4		4	KCNC2	12	75207454	Missense_Mutation	SNP	C	C3N-00560_TP	10144943	75207454	58067855	882	18821											
GLIPR1L1	0	.	GRCh38	chr12	75366955	75366955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccactcagtccccagtcacCcaaggggcagcttgcagctt	8	7	9	17	0	2	0	2	0	0	0	3	0	3	0	4	2	3	4	4	2	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.101C>A	p.Pro34His	p.P34H	ENST00000548623	1/2	458	366	92	401	400	1	strelka-varscan-mutect	GLIPR1L1,missense_variant,p.Pro34His,ENST00000548623,;GLIPR1L1,missense_variant,p.Pro7His,ENST00000547144,;GLIPR1L1,intron_variant,,ENST00000312442,NM_152779.3;GLIPR1L1,intron_variant,,ENST00000378695,NM_001304964.1;CAPS2,intron_variant,,ENST00000436898,;CAPS2,intron_variant,,ENST00000552497,;CAPS2,intron_variant,,ENST00000551829,;CAPS2,intron_variant,,ENST00000548958,;CAPS2,intron_variant,,ENST00000486196,;CAPS2,intron_variant,,ENST00000547320,;CAPS2,intron_variant,,ENST00000328705,;CAPS2,intron_variant,,ENST00000336815,;	A	ENST00000548623	Transcript	missense_variant	123/484	101/174	34/57	P/H	cCc/cAc		1		1	GLIPR1L1	HGNC	HGNC:28392	protein_coding			ENSP00000487263		A0A0D9SG94	UPI0005C122A5				1/2																			MODERATE		SNV	3			1										PASS		.	.												A	3	1	57	75366955	75366955	C	A	1	0	0	0	0	1	0	0	0	6320	623	22	2		2	GLIPR1L1	12	75366955	Missense_Mutation	SNP	C	C3N-00560_TP	159501	75366955	57908354	883	18822											
OTOGL	0	.	GRCh38	chr12	80305581	80305581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctcttactttagaacaaGctatcaggattgtgtggaaa	12	15	8	6	0	2	1	1	0	1	1	3	3	2	3	0	2	3	1	0	2	6	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3192G>T	p.Lys1064Asn	p.K1064N	ENST00000458043	28/58	49	33	16	83	83	0	strelka-varscan-mutect	OTOGL,missense_variant,p.Lys1064Asn,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Lys1064Asn,ENST00000547103,;	T	ENST00000458043	Transcript	missense_variant	3198/8083	3192/7035	1064/2344	K/N	aaG/aaT		1		1	OTOGL	HGNC	HGNC:26901	protein_coding	YES		ENSP00000400895		A0A0A0MSS2	UPI0001D089C5	NM_173591.3	deleterious(0.01)		28/58		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF225,Pfam_domain:PF00094,SMART_domains:SM00216																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	80305581	80305581	G	T	1	0	0	0	0	1	0	0	0	11371	985	34	2		2	OTOGL	12	80305581	Missense_Mutation	SNP	G	C3N-00560_TP	4938626	80305581	52969728	884	18823											
PTPRQ	0	.	GRCh38	chr12	80635073	80635073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacgagagattaacgcGgtgagcacactcctctgggt	11	7	14	9	3	1	2	0	1	1	1	2	6	2	3	1	3	2	1	1	3	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.5915G>T	p.Arg1972Leu	p.R1972L	ENST00000614701	35/45	165	133	32	205	205	0	strelka-mutect	PTPRQ,missense_variant,p.Arg1972Leu,ENST00000614701,NM_001145026.1;PTPRQ,missense_variant,p.Arg2014Leu,ENST00000616559,;PTPRQ,missense_variant,p.Arg67Leu,ENST00000547881,;PTPRQ,splice_region_variant,,ENST00000549355,;	T	ENST00000614701	Transcript	missense_variant,splice_region_variant	6093/8289	5915/6900	1972/2299	R/L	cGg/cTg		1		1	PTPRQ	HGNC	HGNC:9679	protein_coding	YES	CCDS73501.1	ENSP00000482885		A0A087WZU1	UPI000192953C	NM_001145026.1	deleterious(0.03)		35/45																			MODERATE	1	SNV	5			1										PASS		rs1314753637	.												T	3	4	57	80635073	80635073	G	T	1	0	0	0	0	1	0	0	0	12964	1130	39	1		1	PTPRQ	12	80635073	Missense_Mutation	SNP	G	C3N-00560_TP	329492	80635073	52640236	885	18824											
PTPRQ	0	.	GRCh38	chr12	80673220	80673220	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctggaccatttaacacaAcatataaatgaccatgattt	15	12	5	9	0	1	2	0	2	1	0	1	3	1	3	2	1	2	1	2	1	5	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.6654A>G	p.=	p.Q2218Q	ENST00000614701	43/45	173	146	27	217	217	0	strelka-varscan-mutect	PTPRQ,synonymous_variant,p.=,ENST00000614701,NM_001145026.1;PTPRQ,synonymous_variant,p.=,ENST00000616559,;	G	ENST00000614701	Transcript	synonymous_variant	6832/8289	6654/6900	2218/2299	Q	caA/caG		1		1	PTPRQ	HGNC	HGNC:9679	protein_coding	YES	CCDS73501.1	ENSP00000482885		A0A087WZU1	UPI000192953C	NM_001145026.1			43/45		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	57	80673220	80673220	A	G	1	0	0	0	0	0	0	0	1	12964	40	2	5		5	PTPRQ	12	80673220	Silent	SNP	A	C3N-00560_TP	38147	80673220	52602089	886	18825											
MYF6	0	.	GRCh38	chr12	80708926	80708926	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttcctcggaggaacgcaAactcccctgcgtggaggaag	10	8	12	11	3	0	0	0	0	0	0	3	4	2	4	3	4	3	1	3	4	4	2	rs747177260		C3N-00560_TP	C3N-00560_NB	A	A																c.695A>T	p.Lys232Ile	p.K232I	ENST00000228641	3/3	365	260	105	397	397	0	strelka-varscan-mutect	MYF6,missense_variant,p.Lys232Ile,ENST00000228641,NM_002469.2;	T	ENST00000228641	Transcript	missense_variant	917/1465	695/729	232/242	K/I	aAa/aTa	rs747177260	1		1	MYF6	HGNC	HGNC:7566	protein_coding	YES	CCDS9019.1	ENSP00000228641	P23409		UPI0000001050	NM_002469.2	tolerated(0.06)		3/3		hmmpanther:PTHR11534,hmmpanther:PTHR11534:SF4																	MODERATE	1	SNV	1			1										PASS		rs747177260	.												T	3	4	57	80708926	80708926	A	T	1	0	0	0	0	1	0	0	0	10028	14	1	4		4	MYF6	12	80708926	Missense_Mutation	SNP	A	C3N-00560_TP	35706	80708926	52566383	887	18826											
SLC6A15	0	.	GRCh38	chr12	84892069	84892069	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggtctttgacagactCagtaacatcatcatctaatt	15	12	6	8	0	5	3	3	1	2	2	5	3	5	3	0	1	1	1	0	1	4	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.52G>T	p.Glu18Ter	p.E18*	ENST00000266682	2/12	161	110	51	199	199	0	strelka-varscan-mutect	SLC6A15,stop_gained,p.Glu18Ter,ENST00000266682,NM_182767.5;SLC6A15,stop_gained,p.Glu18Ter,ENST00000450363,NM_018057.6;SLC6A15,stop_gained,p.Glu18Ter,ENST00000549540,;SLC6A15,stop_gained,p.Glu18Ter,ENST00000551010,;SLC6A15,intron_variant,,ENST00000552192,NM_001146335.2;SLC6A15,intron_variant,,ENST00000551612,;SLC6A15,intron_variant,,ENST00000551388,;SLC6A15,intron_variant,,ENST00000547240,;	A	ENST00000266682	Transcript	stop_gained	594/4879	52/2193	18/730	E/*	Gag/Tag		1		-1	SLC6A15	HGNC	HGNC:13621	protein_coding	YES	CCDS9026.1	ENSP00000266682	Q9H2J7		UPI0000038BF2	NM_182767.5			2/12		hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	84892069	84892069	C	A	1	0	0	0	0	0	1	0	0	14961	835	29	2		2	SLC6A15	12	84892069	Nonsense_Mutation	SNP	C	C3N-00560_TP	4183143	84892069	48383240	888	18827											
LRRIQ1	0	.	GRCh38	chr12	85104039	85104039	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accactttttcattttgtttCattggaaaagctagatgtca	11	17	6	7	0	3	1	3	0	0	1	3	2	3	2	1	1	1	2	1	1	3	7	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3245C>A	p.Ser1082Ter	p.S1082*	ENST00000393217	14/27	51	40	11	144	144	0	strelka-varscan-mutect	LRRIQ1,stop_gained,p.Ser1082Ter,ENST00000393217,NM_001079910.1;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	A	ENST00000393217	Transcript	stop_gained	3306/5394	3245/5169	1082/1722	S/*	tCa/tAa		1		1	LRRIQ1	HGNC	HGNC:25708	protein_coding	YES	CCDS41816.1	ENSP00000376910	Q96JM4	A0A140VJN5	UPI0000ED4E82	NM_001079910.1			14/27		PROSITE_profiles:PS51450,hmmpanther:PTHR24365:SF66,hmmpanther:PTHR24365,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	57	85104039	85104039	C	A	1	0	0	0	0	0	1	0	0	8935	838	29	2		2	LRRIQ1	12	85104039	Nonsense_Mutation	SNP	C	C3N-00560_TP	211970	85104039	48171270	889	18828											
POC1B	0	.	GRCh38	chr12	89425344	89425344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccacaggcctcttcaccCttgtctggcagagtcctacc	7	11	7	16	0	3	1	1	0	2	1	5	1	5	1	5	2	1	1	5	2	2	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1149G>T	p.Lys383Asn	p.K383N	ENST00000313546	11/12	242	205	37	190	190	0	strelka-varscan-mutect	POC1B,missense_variant,p.Lys253Asn,ENST00000393179,;POC1B,missense_variant,p.Lys383Asn,ENST00000313546,NM_172240.2;POC1B,missense_variant,p.Lys341Asn,ENST00000549035,NM_001199777.1;POC1B,3_prime_UTR_variant,,ENST00000549504,;POC1B,non_coding_transcript_exon_variant,,ENST00000546740,;POC1B,3_prime_UTR_variant,,ENST00000547496,;POC1B,3_prime_UTR_variant,,ENST00000548715,;POC1B,non_coding_transcript_exon_variant,,ENST00000549591,;	A	ENST00000313546	Transcript	missense_variant	1278/3001	1149/1437	383/478	K/N	aaG/aaT		1		-1	POC1B	HGNC	HGNC:30836	protein_coding	YES	CCDS31869.1	ENSP00000323302	Q8TC44	A0MNP0	UPI000006E6B9	NM_172240.2	tolerated(0.43)		11/12																			MODERATE	1	SNV	1			1										PASS		rs1414322338	.												A	3	1	57	89425344	89425344	C	A	1	0	0	0	0	1	0	0	0	12285	680	24	2		2	POC1B	12	89425344	Missense_Mutation	SNP	C	C3N-00560_TP	4321305	89425344	43849965	890	18829											
CCER1	0	.	GRCh38	chr12	90954025	90954025	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccccaggtttccttgcTgccgccagggggcgcgtcgt	3	9	14	15	4	0	0	0	0	0	0	3	0	2	0	5	3	2	2	5	3	0	2	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.718A>T	p.Ser240Cys	p.S240C	ENST00000358859	1/1	308	268	40	271	271	0	strelka-varscan-mutect	CCER1,missense_variant,p.Ser240Cys,ENST00000358859,NM_152638.3;CCER1,intron_variant,,ENST00000548187,;CCER1,upstream_gene_variant,,ENST00000549707,;	A	ENST00000358859	Transcript	missense_variant	1152/2962	718/1221	240/406	S/C	Agc/Tgc		1		-1	CCER1	HGNC	HGNC:28373	protein_coding	YES	CCDS9036.1	ENSP00000351727	Q8TC90		UPI000006EE70	NM_152638.3	tolerated(0.23)		1/1		hmmpanther:PTHR37337:SF1,hmmpanther:PTHR37337																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	57	90954025	90954025	T	A	1	0	0	0	0	1	0	0	0	2574	1580	55	4		4	CCER1	12	90954025	Missense_Mutation	SNP	T	C3N-00560_TP	1528681	90954025	42321284	891	18830											
LUM	0	.	GRCh38	chr12	91108716	91108716	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccactgcagatcagttacAttctcaaaggccttttcatc	11	12	6	12	0	3	1	3	0	1	1	5	1	3	1	2	1	3	2	2	1	2	4	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.264T>C	p.=	p.N88N	ENST00000266718	2/3	310	162	148	259	259	0	strelka-varscan-mutect	LUM,synonymous_variant,p.=,ENST00000266718,NM_002345.3;LUM,intron_variant,,ENST00000548071,;LUM,intron_variant,,ENST00000546642,;	G	ENST00000266718	Transcript	synonymous_variant	719/3008	264/1017	88/338	N	aaT/aaC		1		-1	LUM	HGNC	HGNC:6724	protein_coding	YES	CCDS9038.1	ENSP00000266718	P51884		UPI0000001C4D	NM_002345.3			2/3		PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF119,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	57	91108716	91108716	A	G	1	0	0	0	0	0	0	0	1	8992	214	8	5		5	LUM	12	91108716	Silent	SNP	A	C3N-00560_TP	154691	91108716	42166593	892	18831											
CLLU1	0	.	GRCh38	chr12	92424792	92424792	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttagtaattgagtgtgatCtggagactaactctgaaata	14	13	9	5	0	2	4	0	3	2	1	2	5	2	4	0	1	1	1	0	1	5	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.112C>A	p.Leu38Met	p.L38M	ENST00000378485	1/2	59	50	9	94	94	0	strelka-varscan-mutect	CLLU1,missense_variant,p.Leu38Met,ENST00000378485,NM_001025233.1;CLLU1OS,intron_variant,,ENST00000378487,NM_001025232.1;RP11-693J15.4,intron_variant,,ENST00000508671,;CLLU1,intron_variant,,ENST00000472839,;CLLU1,intron_variant,,ENST00000512817,;CLLU1,non_coding_transcript_exon_variant,,ENST00000586526,;CLLU1,downstream_gene_variant,,ENST00000589406,;	A	ENST00000378485	Transcript	missense_variant	834/3897	112/366	38/121	L/M	Ctg/Atg		1		1	CLLU1	HGNC	HGNC:29841	protein_coding	YES		ENSP00000367746	Q5K131		UPI00004A1179	NM_001025233.1			1/2																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	92424792	92424792	C	A	1	0	0	0	0	1	0	0	0	3309	912	32	2		2	CLLU1	12	92424792	Missense_Mutation	SNP	C	C3N-00560_TP	1316076	92424792	40850517	893	18832											
CEP83	0	.	GRCh38	chr12	94412375	94412375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgatgctcacatcgtaacCtttcatcaattaacattttc	12	16	3	10	1	3	1	3	1	0	0	5	1	3	1	1	0	3	2	1	0	4	6	rs149856098		C3N-00560_TP	C3N-00560_NB	C	C																c.116G>T	p.Arg39Met	p.R39M	ENST00000397809	3/17	201	114	87	153	153	0	strelka-varscan-mutect	CEP83,missense_variant,p.Arg39Met,ENST00000397809,NM_016122.2;CEP83,missense_variant,p.Arg39Met,ENST00000339839,NM_001042399.1;CEP83,missense_variant,p.Arg39Met,ENST00000547575,;CEP83,5_prime_UTR_variant,,ENST00000397807,;CEP83,downstream_gene_variant,,ENST00000546527,;CEP83,upstream_gene_variant,,ENST00000549352,;CEP83,missense_variant,p.Arg6Met,ENST00000547232,;CEP83,non_coding_transcript_exon_variant,,ENST00000551596,;CEP83,upstream_gene_variant,,ENST00000551078,;	A	ENST00000397809	Transcript	missense_variant	666/3773	116/2106	39/701	R/M	aGg/aTg	rs149856098	1		-1	CEP83	HGNC	HGNC:17966	protein_coding	YES	CCDS41820.1	ENSP00000380911		J3KNW7	UPI0000D4BD6F	NM_016122.2	deleterious(0)		3/17		hmmpanther:PTHR23170,hmmpanther:PTHR23170:SF2																	MODERATE	1	SNV	1			1										PASS		rs149856098	.												A	3	1	57	94412375	94412375	C	A	1	0	0	0	0	1	0	0	0	2984	681	24	2		2	CEP83	12	94412375	Missense_Mutation	SNP	C	C3N-00560_TP	1987583	94412375	38862934	894	18833											
FGD6	0	.	GRCh38	chr12	95141413	95141413	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacattctttcctccagttCcttcaagagatcccggttga	9	13	6	13	1	2	2	1	1	1	1	6	3	6	2	4	1	1	2	4	1	2	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2812G>T	p.Glu938Ter	p.E938*	ENST00000343958	6/21	161	95	66	122	121	1	strelka-varscan-mutect	FGD6,stop_gained,p.Glu938Ter,ENST00000343958,NM_018351.3;FGD6,stop_gained,p.Glu938Ter,ENST00000546711,;FGD6,stop_gained,p.Glu938Ter,ENST00000549499,;FGD6,3_prime_UTR_variant,,ENST00000451107,;	A	ENST00000343958	Transcript	stop_gained	3036/9288	2812/4293	938/1430	E/*	Gaa/Taa		1		-1	FGD6	HGNC	HGNC:21740	protein_coding	YES	CCDS31878.1	ENSP00000344446	Q6ZV73		UPI00001FB2F4	NM_018351.3			6/21		PROSITE_profiles:PS50010,hmmpanther:PTHR12673:SF12,hmmpanther:PTHR12673,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	57	95141413	95141413	C	A	1	0	0	0	0	0	1	0	0	5701	864	30	2		2	FGD6	12	95141413	Nonsense_Mutation	SNP	C	C3N-00560_TP	729038	95141413	38133896	895	18834											
UHRF1BP1L	0	.	GRCh38	chr12	100051128	100051128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatttgtactgatggcaTctggagaagtttcaccataa	12	13	9	7	0	2	3	1	2	1	1	2	4	2	3	1	2	1	3	1	2	4	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.3518A>G	p.Asp1173Gly	p.D1173G	ENST00000279907	16/21	291	147	144	258	258	0	strelka-varscan-mutect	UHRF1BP1L,missense_variant,p.Asp1173Gly,ENST00000279907,NM_015054.1;UHRF1BP1L,missense_variant,p.Asp823Gly,ENST00000545232,;UHRF1BP1L,upstream_gene_variant,,ENST00000548712,;UHRF1BP1L,non_coding_transcript_exon_variant,,ENST00000547504,;	C	ENST00000279907	Transcript	missense_variant	3731/5168	3518/4395	1173/1464	D/G	gAt/gGt		1		-1	UHRF1BP1L	HGNC	HGNC:29102	protein_coding	YES	CCDS31882.1	ENSP00000279907	A0JNW5		UPI0000160563	NM_015054.1	tolerated(0.06)		16/21		hmmpanther:PTHR22774,hmmpanther:PTHR22774:SF17																	MODERATE	1	SNV	1			1										PASS		rs1266958698	.												C	3	2	57	100051128	100051128	T	C	1	0	0	0	0	1	0	0	0	17493	1435	50	5		5	UHRF1BP1L	12	100051128	Missense_Mutation	SNP	T	C3N-00560_TP	4909715	100051128	33224181	896	18835											
ANO4	0	.	GRCh38	chr12	101086821	101086821	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatcattatgttgctgaaTgtggtaagtgagctgcagtg	9	15	13	4	0	1	2	1	2	0	0	1	2	1	2	0	1	3	6	0	1	4	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1698T>C	p.=	p.N566N	ENST00000392977	17/28	103	57	46	100	100	0	strelka-varscan-mutect	ANO4,synonymous_variant,p.=,ENST00000392979,NM_178826.3;ANO4,synonymous_variant,p.=,ENST00000392977,NM_001286615.1,NM_001286616.1;ANO4,synonymous_variant,p.=,ENST00000550015,;ANO4,downstream_gene_variant,,ENST00000548940,;	C	ENST00000392977	Transcript	synonymous_variant	1908/3509	1698/2868	566/955	N	aaT/aaC		1		1	ANO4	HGNC	HGNC:23837	protein_coding	YES	CCDS66445.1	ENSP00000376703	Q32M45		UPI0000577AB6	NM_001286615.1,NM_001286616.1			17/28		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Pfam_domain:PF04547,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	57	101086821	101086821	T	C	1	0	0	0	0	0	0	0	1	806	1478	51	5		5	ANO4	12	101086821	Silent	SNP	T	C3N-00560_TP	1035693	101086821	32188488	897	18836											
ANO4	0	.	GRCh38	chr12	101096573	101096573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagtgggagaacagcttCaccctgaaaatgtttctttt	10	14	9	8	0	3	3	1	2	2	1	3	4	3	3	1	1	2	2	1	1	3	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1776C>A	p.Phe592Leu	p.F592L	ENST00000392977	19/28	196	127	69	183	183	0	strelka-varscan-mutect	ANO4,missense_variant,p.Phe557Leu,ENST00000392979,NM_178826.3;ANO4,missense_variant,p.Phe592Leu,ENST00000392977,NM_001286615.1,NM_001286616.1;ANO4,missense_variant,p.Phe112Leu,ENST00000550015,;	A	ENST00000392977	Transcript	missense_variant	1986/3509	1776/2868	592/955	F/L	ttC/ttA		1		1	ANO4	HGNC	HGNC:23837	protein_coding	YES	CCDS66445.1	ENSP00000376703	Q32M45		UPI0000577AB6	NM_001286615.1,NM_001286616.1	tolerated(1)		19/28		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Pfam_domain:PF04547																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	101096573	101096573	C	A	1	0	0	0	0	1	0	0	0	806	825	29	2		2	ANO4	12	101096573	Missense_Mutation	SNP	C	C3N-00560_TP	9752	101096573	32178736	898	18837											
SLC5A8	0	.	GRCh38	chr12	101193644	101193644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagaaatttaatcttcCaccatcataggcatcattta	13	14	3	11	0	3	1	2	0	1	1	5	1	5	1	3	1	0	1	3	1	4	7	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.673G>A	p.Gly225Arg	p.G225R	ENST00000536262	5/15	120	67	53	113	113	0	strelka-varscan-mutect	SLC5A8,missense_variant,p.Gly225Arg,ENST00000536262,NM_145913.3;	T	ENST00000536262	Transcript	missense_variant	1232/4178	673/1833	225/610	G/R	Gga/Aga		1		-1	SLC5A8	HGNC	HGNC:19119	protein_coding	YES	CCDS9080.1	ENSP00000445340	Q8N695		UPI000004DAF6	NM_145913.3	deleterious(0.01)		5/15		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF121,TIGRFAM_domain:TIGR00813																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	101193644	101193644	C	T	1	0	0	0	0	1	0	0	0	14954	603	21	3		3	SLC5A8	12	101193644	Missense_Mutation	SNP	C	C3N-00560_TP	97071	101193644	32081665	899	18838											
PAH	0	.	GRCh38	chr12	102917098	102917098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagagagtttcctgccCaagcctgggttttccaggac	9	10	11	11	0	1	1	1	0	0	1	3	3	3	2	4	2	2	2	4	2	2	3	rs772557951		C3N-00560_TP	C3N-00560_NB	C	C																c.33G>T	p.Leu11Phe	p.L11F	ENST00000553106	1/13	662	557	105	515	515	0	strelka-varscan-mutect	PAH,missense_variant,p.Leu11Phe,ENST00000553106,NM_000277.1;PAH,missense_variant,p.Leu11Phe,ENST00000546844,;PAH,missense_variant,p.Leu11Phe,ENST00000551337,;PAH,missense_variant,p.Leu6Phe,ENST00000550978,;PAH,5_prime_UTR_variant,,ENST00000307000,;PAH,non_coding_transcript_exon_variant,,ENST00000551988,;PAH,non_coding_transcript_exon_variant,,ENST00000547319,;PAH,intron_variant,,ENST00000635500,;PAH,downstream_gene_variant,,ENST00000546708,;PAH,upstream_gene_variant,,ENST00000548928,;PAH,upstream_gene_variant,,ENST00000548677,;PAH,non_coding_transcript_exon_variant,,ENST00000549111,;	A	ENST00000553106	Transcript	missense_variant	506/4122	33/1359	11/452	L/F	ttG/ttT	rs772557951	1		-1	PAH	HGNC	HGNC:8582	protein_coding	YES	CCDS9092.1	ENSP00000448059	P00439	A0A024RBG4	UPI00001318A0	NM_000277.1	tolerated(0.11)		1/13		hmmpanther:PTHR11473,PIRSF_domain:PIRSF000336																	MODERATE	1	SNV	1			1										PASS		rs772557951	.												A	3	1	57	102917098	102917098	C	A	1	0	0	0	0	1	0	0	0	11474	593	21	2		2	PAH	12	102917098	Missense_Mutation	SNP	C	C3N-00560_TP	1723454	102917098	30358211	900	18839											
STAB2	0	.	GRCh38	chr12	103725015	103725015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgccatctgcaaccacaCtgggcaagtagaaaggactt	13	9	9	10	0	1	1	0	0	1	1	1	2	1	2	2	2	3	3	2	2	4	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.4724C>A	p.Thr1575Asn	p.T1575N	ENST00000388887	45/69	240	152	88	199	199	0	strelka-varscan-mutect	STAB2,missense_variant,p.Thr1575Asn,ENST00000388887,NM_017564.9;	A	ENST00000388887	Transcript	missense_variant	4928/8251	4724/7656	1575/2551	T/N	aCt/aAt		1		1	STAB2	HGNC	HGNC:18629	protein_coding	YES	CCDS31888.1	ENSP00000373539	Q8WWQ8		UPI00001ADDF4	NM_017564.9	deleterious(0)		45/69		PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:2.40.155.10,Pfam_domain:PF12947,SMART_domains:SM00181,Superfamily_domains:SSF82153																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	103725015	103725015	C	A	1	0	0	0	0	1	0	0	0	15616	565	20	2		2	STAB2	12	103725015	Missense_Mutation	SNP	C	C3N-00560_TP	807917	103725015	29550294	901	18840											
ALDH1L2	0	.	GRCh38	chr12	105052150	105052150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccattcaccgttttcaaaaGcatcttttgctgctgctact	8	15	5	13	1	3	0	2	0	1	0	3	0	3	0	2	0	5	5	2	0	3	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1475C>T	p.Ala492Val	p.A492V	ENST00000258494	12/23	176	105	71	193	193	0	strelka-varscan-mutect	ALDH1L2,missense_variant,p.Ala492Val,ENST00000258494,NM_001034173.3;C12orf45,intron_variant,,ENST00000622317,;C12orf45,downstream_gene_variant,,ENST00000637147,;C12orf45,downstream_gene_variant,,ENST00000548583,;ALDH1L2,3_prime_UTR_variant,,ENST00000552270,;ALDH1L2,non_coding_transcript_exon_variant,,ENST00000549335,;C12orf45,intron_variant,,ENST00000547750,;	A	ENST00000258494	Transcript	missense_variant	1616/7547	1475/2772	492/923	A/V	gCt/gTt		1		-1	ALDH1L2	HGNC	HGNC:26777	protein_coding	YES	CCDS31891.1	ENSP00000258494	Q3SY69		UPI00000477A9	NM_001034173.3	deleterious(0)		12/23		Gene3D:3.40.605.10,Pfam_domain:PF00171,PIRSF_domain:PIRSF036489,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF131,Low_complexity_(Seg):seg,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		rs1349183264	.												A	3	1	57	105052150	105052150	G	A	1	0	0	0	0	1	0	0	0	595	971	34	3		3	ALDH1L2	12	105052150	Missense_Mutation	SNP	G	C3N-00560_TP	1327135	105052150	28223159	902	18841											
RFX4	0	.	GRCh38	chr12	106689356	106689356	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acactgtaataagagccaacTttgatgaggtaggtcaacaa	16	9	9	7	0	1	3	1	2	0	1	1	3	1	3	1	2	3	2	1	2	6	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.688T>A	p.Phe230Ile	p.F230I	ENST00000357881	7/18	236	155	81	177	177	0	strelka-mutect	RFX4,missense_variant,p.Phe221Ile,ENST00000392842,NM_213594.2;RFX4,missense_variant,p.Phe127Ile,ENST00000229387,NM_032491.5;RFX4,missense_variant,p.Phe230Ile,ENST00000357881,NM_001206691.1;RFX4,missense_variant,p.Phe166Ile,ENST00000551640,;RFX4,intron_variant,,ENST00000539967,;RFX4,downstream_gene_variant,,ENST00000549040,;RP11-144F15.1,intron_variant,,ENST00000551505,;RP11-144F15.1,intron_variant,,ENST00000549203,;RP11-482D24.2,upstream_gene_variant,,ENST00000547531,;RFX4,non_coding_transcript_exon_variant,,ENST00000552866,;RFX4,missense_variant,p.Phe230Ile,ENST00000536722,;RFX4,3_prime_UTR_variant,,ENST00000552917,;RFX4,non_coding_transcript_exon_variant,,ENST00000536688,;	A	ENST00000357881	Transcript	missense_variant	828/2565	688/2235	230/744	F/I	Ttt/Att		1		1	RFX4	HGNC	HGNC:9985	protein_coding	YES	CCDS55880.1	ENSP00000350552	Q33E94		UPI00001FB460	NM_001206691.1	deleterious(0)		7/18		hmmpanther:PTHR12619:SF25,hmmpanther:PTHR12619																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	106689356	106689356	T	A	1	0	0	0	0	1	0	0	0	13439	1609	56	4		4	RFX4	12	106689356	Missense_Mutation	SNP	T	C3N-00560_TP	1637206	106689356	26585953	903	18842											
CMKLR1	0	.	GRCh38	chr12	108292217	108292217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcttggccaggcggttgCgctgcagtttgcacacgatg	5	11	15	10	3	1	0	0	0	1	0	1	1	1	0	1	4	3	5	1	4	0	3	rs760204829		C3N-00560_TP	C3N-00560_NB	C	C																c.746G>T	p.Arg249Leu	p.R249L	ENST00000312143	3/3	281	144	137	227	226	1	strelka-varscan-mutect	CMKLR1,missense_variant,p.Arg249Leu,ENST00000312143,NM_001142344.1;CMKLR1,missense_variant,p.Arg249Leu,ENST00000412676,NM_001142345.1;CMKLR1,missense_variant,p.Arg249Leu,ENST00000550402,NM_001142343.1;CMKLR1,missense_variant,p.Arg247Leu,ENST00000552995,NM_004072.2;CMKLR1,downstream_gene_variant,,ENST00000550573,;CMKLR1,downstream_gene_variant,,ENST00000549466,;	A	ENST00000312143	Transcript	missense_variant	1110/5283	746/1122	249/373	R/L	cGc/cTc	rs760204829	1		-1	CMKLR1	HGNC	HGNC:2121	protein_coding	YES	CCDS44965.1	ENSP00000311733	Q99788		UPI0000127BD4	NM_001142344.1	deleterious(0)		3/3		PROSITE_profiles:PS50262,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF696,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01126																	MODERATE	1	SNV	2			1										PASS		rs760204829	.												A	3	1	57	108292217	108292217	C	A	1	0	0	0	0	1	0	0	0	3354	768	27	1		1	CMKLR1	12	108292217	Missense_Mutation	SNP	C	C3N-00560_TP	1602861	108292217	24983092	904	18843											
FAM222A	0	.	GRCh38	chr12	109768558	109768558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccagctcaaccagcagtGccaggccccgggcgccgcac	8	3	12	18	3	1	0	1	0	0	0	1	0	1	0	6	2	5	4	6	2	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.629G>T	p.Cys210Phe	p.C210F	ENST00000538780	3/3	89	73	16	75	75	0	strelka-varscan-mutect	FAM222A,missense_variant,p.Cys210Phe,ENST00000538780,NM_032829.2;FAM222A,missense_variant,p.Cys210Phe,ENST00000358906,;FAM222A-AS1,intron_variant,,ENST00000541723,;FAM222A-AS1,intron_variant,,ENST00000541460,;	T	ENST00000538780	Transcript	missense_variant	1345/3294	629/1359	210/452	C/F	tGc/tTc		1		1	FAM222A	HGNC	HGNC:25915	protein_coding	YES	CCDS9133.1	ENSP00000443292	Q5U5X8	A0A024RBN3	UPI000013D712	NM_032829.2	deleterious(0.01)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR16070																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	109768558	109768558	G	T	1	0	0	0	0	1	0	0	0	5416	1319	46	2		2	FAM222A	12	109768558	Missense_Mutation	SNP	G	C3N-00560_TP	1476341	109768558	23506751	905	18844											
SRRM4	0	.	GRCh38	chr12	119154357	119154357	+	Missense_Mutation	SNP	C	C	G																															cgccggagagactccccgagCcacctggaggcccggaggat																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1506C>G	p.Ser502Arg	p.S502R	ENST00000267260	12/13	231	203	28	203	203	0	strelka-varscan-mutect	SRRM4,missense_variant,p.Ser502Arg,ENST00000267260,NM_194286.3;	G	ENST00000267260	Transcript	missense_variant	1894/8477	1506/1836	502/611	S/R	agC/agG		1		1	SRRM4	HGNC	HGNC:29389	protein_coding	YES	CCDS44994.1	ENSP00000267260	A7MD48	V5T9A0	UPI00001FBC3F	NM_194286.3	deleterious_low_confidence(0)		12/13		Pfam_domain:PF15230,hmmpanther:PTHR34755,hmmpanther:PTHR34755:SF1																	MODERATE	1	SNV	1			1										PASS		rs1250720889	.												G	3	3	57	119154357	119154357	C	G	1	0	0	0	0	1	0	0	0	15532	738	26	4		4	SRRM4	12	119154357	Missense_Mutation	SNP	C	C3N-00560_TP	9385799	119154357	14120952	906	18845	400	2									
SRRM4	0	.	GRCh38	chr12	119154358	119154358	+	Missense_Mutation	SNP	C	C	G																															gccggagagactccccgagcCacctggaggcccggaggata																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1507C>G	p.His503Asp	p.H503D	ENST00000267260	12/13	233	205	28	205	205	0	strelka-varscan-mutect	SRRM4,missense_variant,p.His503Asp,ENST00000267260,NM_194286.3;	G	ENST00000267260	Transcript	missense_variant	1895/8477	1507/1836	503/611	H/D	Cac/Gac		1		1	SRRM4	HGNC	HGNC:29389	protein_coding	YES	CCDS44994.1	ENSP00000267260	A7MD48	V5T9A0	UPI00001FBC3F	NM_194286.3	deleterious_low_confidence(0)		12/13		Pfam_domain:PF15230,hmmpanther:PTHR34755,hmmpanther:PTHR34755:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	119154358	119154358	C	G	1	0	0	0	0	1	0	0	0	15532	594	21	4		4	SRRM4	12	119154358	Missense_Mutation	SNP	C	C3N-00560_TP	1	119154358	14120951	907	18846	400	2									
GCN1	0	.	GRCh38	chr12	120164377	120164377	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagctcctccaagagtcCgtgcgccagcttaaagcccc	8	8	8	17	2	1	1	1	0	0	1	4	1	4	1	6	0	4	2	6	0	3	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1807G>T	p.Gly603Ter	p.G603*	ENST00000300648	18/58	179	151	28	158	158	0	strelka-varscan-mutect	GCN1,stop_gained,p.Gly603Ter,ENST00000300648,NM_006836.1;GCN1,upstream_gene_variant,,ENST00000550471,;GCN1,upstream_gene_variant,,ENST00000547369,;GCN1,downstream_gene_variant,,ENST00000551549,;	A	ENST00000300648	Transcript	stop_gained	1820/8675	1807/8016	603/2671	G/*	Gga/Tga		1		-1	GCN1	HGNC	HGNC:4199	protein_coding	YES	CCDS41847.1	ENSP00000300648	Q92616		UPI0000451CA7	NM_006836.1			18/58		Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7,Superfamily_domains:SSF48371																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	120164377	120164377	C	A	1	0	0	0	0	0	1	0	0	6169	661	23	1		1	GCN1	12	120164377	Nonsense_Mutation	SNP	C	C3N-00560_TP	1010019	120164377	13110932	908	18847											
HNF1A	0	.	GRCh38	chr12	120997591	120997591	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcctaccagcagccgcTcatgccacctgtgcagagcc	7	6	8	20	1	1	1	1	0	0	1	2	1	2	1	8	0	6	3	8	0	1	1	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1427T>A	p.Leu476His	p.L476H	ENST00000544413	7/10	319	175	144	299	298	1	strelka-varscan-mutect	HNF1A,missense_variant,p.Leu476His,ENST00000257555,NM_000545.5;HNF1A,missense_variant,p.Leu476His,ENST00000541395,;HNF1A,missense_variant,p.Leu297His,ENST00000543427,;HNF1A,missense_variant,p.Leu72His,ENST00000615446,;HNF1A,missense_variant,p.Leu476His,ENST00000400024,;HNF1A,missense_variant,p.Leu476His,ENST00000544413,NM_001306179.1;HNF1A,intron_variant,,ENST00000617366,;C12orf43,downstream_gene_variant,,ENST00000288757,NM_022895.2,NM_001286192.1;C12orf43,downstream_gene_variant,,ENST00000445832,NM_001286198.1;HNF1A,non_coding_transcript_exon_variant,,ENST00000538626,;HNF1A,non_coding_transcript_exon_variant,,ENST00000535955,;HNF1A,3_prime_UTR_variant,,ENST00000540108,;HNF1A,3_prime_UTR_variant,,ENST00000560968,;HNF1A,3_prime_UTR_variant,,ENST00000538646,;HNF1A,3_prime_UTR_variant,,ENST00000541924,;HNF1A,3_prime_UTR_variant,,ENST00000544574,;HNF1A,non_coding_transcript_exon_variant,,ENST00000402929,;HNF1A,non_coding_transcript_exon_variant,,ENST00000543255,;	A	ENST00000544413	Transcript	missense_variant	1447/2014	1427/1917	476/638	L/H	cTc/cAc		1		1	HNF1A	HGNC	HGNC:11621	protein_coding	YES	CCDS76611.1	ENSP00000438804		F5H0K0	UPI000204ABCC	NM_001306179.1	deleterious(0)		7/10		Pfam_domain:PF04812,hmmpanther:PTHR11568,hmmpanther:PTHR11568:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	120997591	120997591	T	A	1	0	0	0	0	1	0	0	0	7142	1551	54	4		4	HNF1A	12	120997591	Missense_Mutation	SNP	T	C3N-00560_TP	833214	120997591	12277718	909	18848											
CAMKK2	0	.	GRCh38	chr12	121260326	121260326	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcttccttacccatgtaCagatggtcctcattggggtc	7	12	11	11	0	1	1	1	0	0	1	4	1	3	1	3	4	2	2	3	4	2	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.789G>T	p.=	p.L263L	ENST00000324774	7/17	281	241	40	221	221	0	strelka-varscan-mutect	CAMKK2,synonymous_variant,p.=,ENST00000324774,NM_006549.3;CAMKK2,synonymous_variant,p.=,ENST00000337174,NM_153499.2;CAMKK2,synonymous_variant,p.=,ENST00000347034,NM_172216.1;CAMKK2,synonymous_variant,p.=,ENST00000538733,NM_153500.1;CAMKK2,synonymous_variant,p.=,ENST00000392474,NM_001270486.1;CAMKK2,synonymous_variant,p.=,ENST00000545538,;CAMKK2,synonymous_variant,p.=,ENST00000392473,NM_172214.2;CAMKK2,synonymous_variant,p.=,ENST00000446440,NM_172215.2;CAMKK2,synonymous_variant,p.=,ENST00000404169,NM_001270485.1;CAMKK2,synonymous_variant,p.=,ENST00000402834,;CAMKK2,synonymous_variant,p.=,ENST00000412367,NM_172226.2;CAMKK2,intron_variant,,ENST00000535524,;CAMKK2,downstream_gene_variant,,ENST00000542540,;	A	ENST00000324774	Transcript	synonymous_variant	1618/5598	789/1767	263/588	L	ctG/ctT		1		-1	CAMKK2	HGNC	HGNC:1470	protein_coding	YES	CCDS9216.1	ENSP00000312741	Q96RR4	A0A024RBQ0	UPI000013D208	NM_006549.3			7/17		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF204,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	121260326	121260326	C	A	1	0	0	0	0	0	0	0	1	2298	465	17	2		2	CAMKK2	12	121260326	Silent	SNP	C	C3N-00560_TP	262735	121260326	12014983	910	18849											
NCOR2	0	.	GRCh38	chr12	124336973	124336973	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggaggaggcgggctccagCccggagcgggctgggggctt	4	4	23	10	3	0	0	0	0	0	0	1	3	1	3	2	9	2	3	2	9	0	1	rs781638122		C3N-00560_TP	C3N-00560_NB	C	C																c.5895G>A	p.=	p.G1965G	ENST00000405201	38/47	51	40	11	36	36	0	strelka-varscan-mutect	NCOR2,synonymous_variant,p.=,ENST00000405201,NM_006312.5;NCOR2,synonymous_variant,p.=,ENST00000404621,NM_001077261.3;NCOR2,synonymous_variant,p.=,ENST00000429285,NM_001206654.1;NCOR2,synonymous_variant,p.=,ENST00000356219,;NCOR2,synonymous_variant,p.=,ENST00000404121,;NCOR2,upstream_gene_variant,,ENST00000440337,;NCOR2,downstream_gene_variant,,ENST00000453428,;NCOR2,upstream_gene_variant,,ENST00000418829,;NCOR2,downstream_gene_variant,,ENST00000440187,;MIR6880,downstream_gene_variant,,ENST00000622851,;NCOR2,upstream_gene_variant,,ENST00000461081,;NCOR2,upstream_gene_variant,,ENST00000443451,;NCOR2,upstream_gene_variant,,ENST00000474079,;	T	ENST00000405201	Transcript	synonymous_variant	5896/8533	5895/7545	1965/2514	G	ggG/ggA	rs781638122	1		-1	NCOR2	HGNC	HGNC:7673	protein_coding	YES	CCDS41858.2	ENSP00000384018		C9JFD3	UPI000013D737	NM_006312.5			38/47		hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF21																	LOW	1	SNV	1			1										PASS		rs781638122	.												T	2	4	57	124336973	124336973	C	T	1	0	0	0	0	0	0	0	1	10255	726	26	3		3	NCOR2	12	124336973	Silent	SNP	C	C3N-00560_TP	3076647	124336973	8938336	911	18850											
TMEM132B	0	.	GRCh38	chr12	125519439	125519439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatatgtgtttgttttccagGgtaaatggatccttctatga	10	17	9	5	0	1	1	0	1	1	0	3	2	3	2	2	2	0	3	2	2	5	7	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1092G>T	p.Arg364Ser	p.R364S	ENST00000299308	4/9	134	62	72	113	113	0	strelka-varscan-mutect	TMEM132B,missense_variant,p.Arg364Ser,ENST00000299308,NM_052907.3;TMEM132B,splice_region_variant,,ENST00000534945,;	T	ENST00000299308	Transcript	missense_variant,splice_region_variant	1100/10906	1092/3237	364/1078	R/S	agG/agT		1		1	TMEM132B	HGNC	HGNC:29397	protein_coding	YES	CCDS41859.1	ENSP00000299308	Q14DG7		UPI00006BFF58	NM_052907.3	tolerated(0.27)		4/9		hmmpanther:PTHR13388:SF12,hmmpanther:PTHR13388																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	125519439	125519439	G	T	1	0	0	0	0	1	0	0	0	16490	1246	43	2		2	TMEM132B	12	125519439	Missense_Mutation	SNP	G	C3N-00560_TP	1182466	125519439	7755870	912	18851											
TMEM132B	0	.	GRCh38	chr12	125644197	125644197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaggtcactgtctgggcacCcaggctccccctgcagattg	6	8	12	15	1	2	1	1	0	1	1	3	2	3	1	3	3	1	3	3	3	0	1			C3N-00560_TP	C3N-00560_NB	C	C																c.1544C>T	p.Pro515Leu	p.P515L	ENST00000299308	6/9	395	227	168	370	370	0	strelka-varscan-mutect	TMEM132B,missense_variant,p.Pro515Leu,ENST00000299308,NM_052907.3;TMEM132B,missense_variant,p.Pro27Leu,ENST00000613307,NM_001286219.1;TMEM132B,non_coding_transcript_exon_variant,,ENST00000535886,;	T	ENST00000299308	Transcript	missense_variant	1552/10906	1544/3237	515/1078	P/L	cCc/cTc	COSM2227506	1		1	TMEM132B	HGNC	HGNC:29397	protein_coding	YES	CCDS41859.1	ENSP00000299308	Q14DG7		UPI00006BFF58	NM_052907.3	deleterious(0)		6/9		hmmpanther:PTHR13388:SF12,hmmpanther:PTHR13388,Pfam_domain:PF16070											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	57	125644197	125644197	C	T	1	0	0	0	0	1	0	0	0	16490	623	22	3		3	TMEM132B	12	125644197	Missense_Mutation	SNP	C	C3N-00560_TP	124758	125644197	7631112	913	18852											
TMEM132C	0	.	GRCh38	chr12	128415565	128415565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtcaagcagggagaggtgGtcacggcctatgtcaccatc	10	7	13	11	1	3	1	3	0	0	1	4	2	3	1	2	4	1	1	2	4	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.919G>T	p.Val307Phe	p.V307F	ENST00000435159	2/9	102	55	47	63	63	0	strelka-varscan-mutect	TMEM132C,missense_variant,p.Val307Phe,ENST00000435159,NM_001136103.2;	T	ENST00000435159	Transcript	missense_variant	919/4947	919/3327	307/1108	V/F	Gtc/Ttc		1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2	deleterious(0.03)		2/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	128415565	128415565	G	T	1	0	0	0	0	1	0	0	0	16491	1261	44	2		2	TMEM132C	12	128415565	Missense_Mutation	SNP	G	C3N-00560_TP	2771368	128415565	4859744	914	18853											
FZD10	0	.	GRCh38	chr12	130163902	130163902	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcctctactacttcggCatggccagctcgctgtggtg	4	12	12	13	2	1	0	0	0	1	0	4	0	2	0	2	4	3	3	2	4	2	3	rs747438554		C3N-00560_TP	C3N-00560_NB	C	C																c.960C>A	p.=	p.G320G	ENST00000229030	1/1	340	188	152	323	323	0	strelka-varscan-mutect	FZD10,missense_variant,p.His288Asn,ENST00000539839,;FZD10,synonymous_variant,p.=,ENST00000229030,NM_007197.3;FZD10-AS1,upstream_gene_variant,,ENST00000505807,;FZD10-AS1,upstream_gene_variant,,ENST00000509760,;FZD10-AS1,upstream_gene_variant,,ENST00000537095,;FZD10-AS1,upstream_gene_variant,,ENST00000542000,;	A	ENST00000229030	Transcript	synonymous_variant	1444/3281	960/1746	320/581	G	ggC/ggA	rs747438554	1		1	FZD10	HGNC	HGNC:4039	protein_coding	YES	CCDS9267.1	ENSP00000229030	Q9ULW2		UPI000004EC92	NM_007197.3			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309,Pfam_domain:PF01534,SMART_domains:SM01330,Prints_domain:PR00489																	LOW		SNV				1										PASS		rs747438554	.												A	2	1	57	130163902	130163902	C	A	1	0	0	0	0	0	0	0	1	6000	710	25	2		2	FZD10	12	130163902	Silent	SNP	C	C3N-00560_TP	1748337	130163902	3111407	915	18854											
PIWIL1	0	.	GRCh38	chr12	130363105	130363105	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaactacgaagtgccacAgtttttggattgtctaaaat	12	13	10	6	1	1	1	0	1	1	0	1	3	1	2	1	2	3	1	1	2	5	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.2156A>C	p.Gln719Pro	p.Q719P	ENST00000245255	18/21	263	152	111	205	205	0	strelka-varscan-mutect	PIWIL1,missense_variant,p.Gln719Pro,ENST00000245255,NM_004764.4,NM_001190971.1;PIWIL1,upstream_gene_variant,,ENST00000541480,;	C	ENST00000245255	Transcript	missense_variant	2428/3897	2156/2586	719/861	Q/P	cAg/cCg		1		1	PIWIL1	HGNC	HGNC:9007	protein_coding	YES	CCDS9268.1	ENSP00000245255	Q96J94	A0A024RBS5	UPI000007059F	NM_004764.4,NM_001190971.1	deleterious(0)		18/21		Gene3D:3.30.420.10,Pfam_domain:PF02171,PROSITE_profiles:PS50822,hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF46,SMART_domains:SM00950,Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	130363105	130363105	A	C	1	0	0	0	0	1	0	0	0	12053	188	7	5		5	PIWIL1	12	130363105	Missense_Mutation	SNP	A	C3N-00560_TP	199203	130363105	2912204	916	18855											
SFSWAP	0	.	GRCh38	chr12	131725460	131725460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggccagcttcgtgtgcaGgcagggagcacagtttgaga	9	7	15	10	2	0	1	0	1	0	1	1	3	0	2	1	3	3	5	1	3	0	2	rs142183661		C3N-00560_TP	C3N-00560_NB	G	G																c.662G>T	p.Arg221Met	p.R221M	ENST00000541286	5/19	526	453	73	404	403	1	strelka-varscan-mutect	SFSWAP,missense_variant,p.Arg221Met,ENST00000261674,NM_004592.3;SFSWAP,missense_variant,p.Arg221Met,ENST00000541286,NM_001261411.1;SFSWAP,non_coding_transcript_exon_variant,,ENST00000542813,;SFSWAP,3_prime_UTR_variant,,ENST00000538548,;SFSWAP,non_coding_transcript_exon_variant,,ENST00000535236,;SFSWAP,non_coding_transcript_exon_variant,,ENST00000540469,;SFSWAP,upstream_gene_variant,,ENST00000535202,;	T	ENST00000541286	Transcript	missense_variant	755/3219	662/3012	221/1003	R/M	aGg/aTg	rs142183661	1		1	SFSWAP	HGNC	HGNC:10790	protein_coding	YES	CCDS58290.1	ENSP00000437738	Q12872		UPI000204AB4C	NM_001261411.1	deleterious(0)		5/19		Pfam_domain:PF01805,PROSITE_profiles:PS50128,hmmpanther:PTHR13161,hmmpanther:PTHR13161:SF15,SMART_domains:SM00648,Superfamily_domains:SSF109905																	MODERATE	1	SNV	1			1										PASS		rs142183661	.												T	3	4	57	131725460	131725460	G	T	1	0	0	0	0	1	0	0	0	14444	1000	35	2		2	SFSWAP	12	131725460	Missense_Mutation	SNP	G	C3N-00560_TP	1362355	131725460	1549849	917	18856											
ZNF268	0	.	GRCh38	chr12	133202520	133202520	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaaaaaccctttggatgCagctgttgtgagaaagcctt	11	10	12	8	1	0	1	0	1	0	1	0	4	0	2	2	2	4	3	2	2	3	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.834C>A	p.Cys278Ter	p.C278*	ENST00000536435	6/6	180	146	34	124	124	0	strelka-varscan-mutect	ZNF268,stop_gained,p.Cys278Ter,ENST00000536435,NM_003415.2;ZNF268,stop_gained,p.Cys278Ter,ENST00000228289,NM_001165881.2;ZNF268,3_prime_UTR_variant,,ENST00000541009,NM_152943.2;ZNF268,3_prime_UTR_variant,,ENST00000542986,;ZNF268,3_prime_UTR_variant,,ENST00000536899,NM_001165884.2;ZNF268,3_prime_UTR_variant,,ENST00000542711,NM_001165886.1;CTD-2140B24.4,downstream_gene_variant,,ENST00000540096,;ZNF268,downstream_gene_variant,,ENST00000541211,NM_001165885.1;ZNF268,downstream_gene_variant,,ENST00000539248,NM_001165883.1;ZNF268,downstream_gene_variant,,ENST00000500625,NM_001165882.2;ZNF268,downstream_gene_variant,,ENST00000592241,NM_001165887.1;ZNF268,downstream_gene_variant,,ENST00000591951,;ZNF268,downstream_gene_variant,,ENST00000585488,;ZNF268,downstream_gene_variant,,ENST00000588312,;ZNF268,downstream_gene_variant,,ENST00000534953,;	A	ENST00000536435	Transcript	stop_gained	1164/13475	834/2844	278/947	C/*	tgC/tgA		1		1	ZNF268	HGNC	HGNC:13061	protein_coding	YES	CCDS45012.1	ENSP00000444412	Q14587		UPI000013C33E	NM_003415.2			6/6		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	133202520	133202520	C	A	1	0	0	0	0	0	1	0	0	18383	718	25	2		2	ZNF268	12	133202520	Nonsense_Mutation	SNP	C	C3N-00560_TP	1477060	133202520	72789	918	18857											
TUBA3C	0	.	GRCh38	chr13	19178276	19178276	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccggtccaggaccaggtcGacgatctccttgccgatggt	7	9	12	13	4	1	0	0	0	1	0	5	4	3	1	5	4	1	0	5	4	0	1	rs552346334		C3N-00560_TP	C3N-00560_NB	G	G																c.345C>A	p.=	p.V115V	ENST00000400113	3/5	105	52	53	130	130	0	strelka-varscan-mutect	TUBA3C,synonymous_variant,p.=,ENST00000400113,NM_006001.2;TUBA3C,synonymous_variant,p.=,ENST00000618094,;	T	ENST00000400113	Transcript	synonymous_variant	450/1551	345/1353	115/450	V	gtC/gtA	rs552346334,COSM5376469	1		-1	TUBA3C	HGNC	HGNC:12408	protein_coding	YES	CCDS9284.1	ENSP00000382982	Q13748	Q1ZYQ1	UPI0000027DB1	NM_006001.2			3/5		hmmpanther:PTHR11588:SF94,hmmpanther:PTHR11588,Gene3D:3.40.50.1440,Pfam_domain:PF00091,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161											0,1						LOW	1	SNV	5		0,1	1										PASS		rs552346334	.												T	2	4	57	19178276	19178276	G	T	1	0	0	0	0	0	0	0	1	17256	1045	37	1		1	TUBA3C	13	19178276	Silent	SNP	G	C3N-00560_TP		19178276	95186052	919	18858											
SACS	0	.	GRCh38	chr13	23333393	23333393	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaggtagatcaagtgctCtaattttgcatcataagaga	14	13	8	6	0	3	2	2	0	1	2	3	3	3	2	0	1	2	3	0	1	5	6	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.10483G>T	p.Glu3495Ter	p.E3495*	ENST00000382292	9/9	32	14	18	74	74	0	strelka-varscan-mutect	SACS,stop_gained,p.Glu3495Ter,ENST00000382292,NM_014363.5;SACS,stop_gained,p.Glu2745Ter,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	A	ENST00000382292	Transcript	stop_gained	10757/15324	10483/13740	3495/4579	E/*	Gag/Tag		1		-1	SACS	HGNC	HGNC:10519	protein_coding	YES	CCDS9300.2	ENSP00000371729	Q9NZJ4		UPI000047039D	NM_014363.5			9/9		hmmpanther:PTHR15600,hmmpanther:PTHR15600:SF28																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	57	23333393	23333393	C	A	1	0	0	0	0	0	1	0	0	14063	922	32	2		2	SACS	13	23333393	Nonsense_Mutation	SNP	C	C3N-00560_TP	4155117	23333393	91030935	920	18859											
SACS	0	.	GRCh38	chr13	23333464	23333464	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatatacctcaagatcatctAcaggtacacaaccaatcacc	17	8	3	13	0	4	1	3	0	1	1	4	1	4	1	3	1	4	1	3	1	8	4	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.10412T>C	p.Val3471Ala	p.V3471A	ENST00000382292	9/9	110	60	50	146	146	0	strelka-varscan-mutect	SACS,missense_variant,p.Val3471Ala,ENST00000382292,NM_014363.5;SACS,missense_variant,p.Val2721Ala,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	G	ENST00000382292	Transcript	missense_variant	10686/15324	10412/13740	3471/4579	V/A	gTa/gCa		1		-1	SACS	HGNC	HGNC:10519	protein_coding	YES	CCDS9300.2	ENSP00000371729	Q9NZJ4		UPI000047039D	NM_014363.5	deleterious(0)		9/9		hmmpanther:PTHR15600,hmmpanther:PTHR15600:SF28																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	57	23333464	23333464	A	G	1	0	0	0	0	1	0	0	0	14063	391	14	5		5	SACS	13	23333464	Missense_Mutation	SNP	A	C3N-00560_TP	71	23333464	91030864	921	18860											
C1QTNF9	0	.	GRCh38	chr13	24318872	24318872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggacgagtggagagaaggGagaacgaggttagtagttcc	12	7	18	4	2	0	2	0	0	0	2	1	8	1	4	1	4	1	3	1	4	4	3			C3N-00560_TP	C3N-00560_NB	G	G																c.221G>T	p.Gly74Val	p.G74V	ENST00000382071	3/4	229	194	35	278	278	0	strelka-varscan-mutect	C1QTNF9,missense_variant,p.Gly74Val,ENST00000382071,NM_001303138.1;C1QTNF9,missense_variant,p.Gly74Val,ENST00000332018,NM_001303137.1,NM_178540.4;C1QTNF9B-AS1,downstream_gene_variant,,ENST00000626707,;C1QTNF9-AS1,intron_variant,,ENST00000449656,;RP11-307N16.6,3_prime_UTR_variant,,ENST00000382141,;RP11-307N16.7,upstream_gene_variant,,ENST00000621992,;	T	ENST00000382071	Transcript	missense_variant	306/1854	221/1002	74/333	G/V	gGa/gTa	COSM3467802,COSM469260	1		1	C1QTNF9	HGNC	HGNC:28732	protein_coding	YES	CCDS9306.1	ENSP00000371503	P0C862		UPI000004F06F	NM_001303138.1	deleterious(0)		3/4		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF557											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	57	24318872	24318872	G	T	1	0	0	0	0	1	0	0	0	1948	1174	41	2		2	C1QTNF9	13	24318872	Missense_Mutation	SNP	G	C3N-00560_TP	985408	24318872	90045456	922	18861											
ATP8A2	0	.	GRCh38	chr13	25559746	25559746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcccagaattggcaagagagCcgtcttcagatgacttctgg	10	10	11	10	1	3	4	1	1	2	3	4	5	4	4	2	2	1	1	2	2	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1378C>A	p.Pro460Thr	p.P460T	ENST00000381655	15/37	150	107	43	202	202	0	strelka-varscan-mutect	ATP8A2,missense_variant,p.Pro460Thr,ENST00000381655,NM_016529.4;ATP8A2,missense_variant,p.Pro420Thr,ENST00000255283,;ATP8A2,missense_variant,p.Pro300Thr,ENST00000281620,;	A	ENST00000381655	Transcript	missense_variant	1520/9575	1378/3567	460/1188	P/T	Ccg/Acg		1		1	ATP8A2	HGNC	HGNC:13533	protein_coding	YES	CCDS41873.1	ENSP00000371070	Q9NTI2		UPI0000229592	NM_016529.4	tolerated(0.95)		15/37		hmmpanther:PTHR24092:SF66,hmmpanther:PTHR24092,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01652,Superfamily_domains:SSF81660																	MODERATE	1	SNV	2			1										PASS		rs1317025985	.												A	3	1	57	25559746	25559746	C	A	1	0	0	0	0	1	0	0	0	1346	739	26	2		2	ATP8A2	13	25559746	Missense_Mutation	SNP	C	C3N-00560_TP	1240874	25559746	88804582	923	18862											
ALOX5AP	0	.	GRCh38	chr13	30764082	30764082	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacgatctccaccaccatCtcccctctacttctcattcc	9	11	2	19	1	4	1	1	0	4	1	8	2	5	1	6	0	1	0	6	0	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.633C>A	p.=	p.I211I	ENST00000617770	6/6	94	51	43	115	115	0	strelka-varscan-mutect	ALOX5AP,synonymous_variant,p.=,ENST00000617770,NM_001204406.1;ALOX5AP,synonymous_variant,p.=,ENST00000380490,NM_001629.3;	A	ENST00000617770	Transcript	synonymous_variant	881/1224	633/657	211/218	I	atC/atA		1		1	ALOX5AP	HGNC	HGNC:436	protein_coding	YES	CCDS73558.1	ENSP00000479870		A0A087WW23	UPI0000E00F64	NM_001204406.1			6/6		hmmpanther:PTHR10250:SF2,hmmpanther:PTHR10250,Gene3D:1.20.120.550																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	30764082	30764082	C	A	1	0	0	0	0	0	0	0	1	641	903	32	2		2	ALOX5AP	13	30764082	Silent	SNP	C	C3N-00560_TP	5204336	30764082	83600246	924	18863											
FRY	0	.	GRCh38	chr13	32228544	32228544	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcctctagcatcagtctGggaggcagcagtggaaacct	10	8	11	12	0	3	0	1	0	2	0	4	2	4	2	3	3	3	3	3	3	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.5295G>T	p.=	p.L1765L	ENST00000542859	40/61	278	152	126	308	308	0	strelka-varscan-mutect	FRY,synonymous_variant,p.=,ENST00000542859,NM_023037.2;FRY,synonymous_variant,p.=,ENST00000380250,;	T	ENST00000542859	Transcript	synonymous_variant	5791/13200	5295/9042	1765/3013	L	ctG/ctT		1		1	FRY	HGNC	HGNC:20367	protein_coding	YES	CCDS41875.1	ENSP00000445043	Q5TBA9		UPI000046FD40	NM_023037.2			40/61		hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs1218590316	.												T	2	4	57	32228544	32228544	G	T	1	0	0	0	0	0	0	0	1	5935	1335	47	2		2	FRY	13	32228544	Silent	SNP	G	C3N-00560_TP	1464462	32228544	82135784	925	18864											
BRCA2	0	.	GRCh38	chr13	32338302	32338302	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactgaaaattacaagagaaAtactgaaaatgaagataaca	23	8	6	4	0	0	5	0	3	0	2	0	6	0	5	0	0	4	0	0	0	11	4	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.3947A>T	p.Asn1316Ile	p.N1316I	ENST00000380152	11/27	22	18	4	55	55	0	strelka-varscan-mutect	BRCA2,missense_variant,p.Asn1316Ile,ENST00000380152,;BRCA2,missense_variant,p.Asn1316Ile,ENST00000544455,NM_000059.3;BRCA2,non_coding_transcript_exon_variant,,ENST00000614259,;	T	ENST00000380152	Transcript	missense_variant	4180/11986	3947/10257	1316/3418	N/I	aAt/aTt		1		1	BRCA2	HGNC	HGNC:1101	protein_coding	YES	CCDS9344.1	ENSP00000369497	P51587		UPI00001FCBCC		deleterious(0)		11/27		hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,PIRSF_domain:PIRSF002397																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	32338302	32338302	A	T	1	0	0	0	0	1	0	0	0	1669	101	4	4		4	BRCA2	13	32338302	Missense_Mutation	SNP	A	C3N-00560_TP	109758	32338302	82026026	926	18865											
POSTN	0	.	GRCh38	chr13	37579040	37579040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggatagaggagtttatCtacaacatgaattacaccat	14	12	8	7	0	1	2	0	1	1	1	1	4	1	4	1	2	4	2	1	2	6	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1873G>T	p.Asp625Tyr	p.D625Y	ENST00000379747	14/23	56	27	29	158	158	0	strelka-varscan-mutect	POSTN,missense_variant,p.Asp625Tyr,ENST00000379747,NM_006475.2;POSTN,missense_variant,p.Asp625Tyr,ENST00000541179,NM_001135936.1,NM_001135935.1;POSTN,missense_variant,p.Asp625Tyr,ENST00000379749,;POSTN,missense_variant,p.Asp625Tyr,ENST00000379743,NM_001286665.1;POSTN,missense_variant,p.Asp625Tyr,ENST00000541481,NM_001286666.1,NM_001286667.1;POSTN,missense_variant,p.Asp625Tyr,ENST00000379742,NM_001135934.1;	A	ENST00000379747	Transcript	missense_variant	1991/3373	1873/2511	625/836	D/Y	Gat/Tat		1		-1	POSTN	HGNC	HGNC:16953	protein_coding	YES	CCDS9364.1	ENSP00000369071	Q15063	A0A024RDS2	UPI000013CEB8	NM_006475.2	deleterious(0)		14/23		Gene3D:2.30.180.10,Pfam_domain:PF02469,PIRSF_domain:PIRSF016553,PROSITE_profiles:PS50213,hmmpanther:PTHR10900,hmmpanther:PTHR10900:SF12,SMART_domains:SM00554,Superfamily_domains:SSF82153																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	37579040	37579040	C	A	1	0	0	0	0	1	0	0	0	12373	913	32	2		2	POSTN	13	37579040	Missense_Mutation	SNP	C	C3N-00560_TP	5240738	37579040	76785288	927	18866											
MRPS31	0	.	GRCh38	chr13	40749263	40749263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttagcaaattccacatccCaaagtgaaggtgatgtgtct	12	11	9	9	0	1	2	0	2	1	0	3	2	3	2	2	1	1	2	2	1	4	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.833G>T	p.Trp278Leu	p.W278L	ENST00000323563	6/7	83	40	43	108	108	0	strelka-varscan-mutect	MRPS31,missense_variant,p.Trp278Leu,ENST00000323563,NM_005830.3;MRPS31,non_coding_transcript_exon_variant,,ENST00000498078,;MRPS31,non_coding_transcript_exon_variant,,ENST00000461675,;	A	ENST00000323563	Transcript	missense_variant	870/1462	833/1188	278/395	W/L	tGg/tTg		1		-1	MRPS31	HGNC	HGNC:16632	protein_coding	YES	CCDS9372.1	ENSP00000315397	Q92665		UPI000013D1D3	NM_005830.3	deleterious(0)		6/7		hmmpanther:PTHR13231,Pfam_domain:PF15433																	MODERATE	1	SNV	1			1										PASS		rs866441224	.												A	3	1	57	40749263	40749263	C	A	1	0	0	0	0	1	0	0	0	9818	595	21	2		2	MRPS31	13	40749263	Missense_Mutation	SNP	C	C3N-00560_TP	3170223	40749263	73615065	928	18867											
TNFSF11	0	.	GRCh38	chr13	42606841	42606841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaggaaatcagcatcgagGtctccaacccctccttactg	11	8	9	13	1	2	1	1	0	1	1	5	4	3	2	4	2	3	1	4	2	3	1			C3N-00560_TP	C3N-00560_NB	G	G																c.877G>C	p.Val293Leu	p.V293L	ENST00000398795	5/5	99	60	39	142	142	0	strelka-varscan-mutect	TNFSF11,missense_variant,p.Val293Leu,ENST00000398795,NM_003701.3;TNFSF11,missense_variant,p.Val220Leu,ENST00000405262,;TNFSF11,missense_variant,p.Val220Leu,ENST00000358545,NM_033012.3;TNFSF11,missense_variant,p.Val246Leu,ENST00000239849,;TNFSF11,missense_variant,p.Val220Leu,ENST00000544862,;	C	ENST00000398795	Transcript	missense_variant	1028/2199	877/954	293/317	V/L	Gtc/Ctc	COSM3704639	1		1	TNFSF11	HGNC	HGNC:11926	protein_coding	YES	CCDS9384.1	ENSP00000381775	O14788	Q5T9Y4	UPI000003BC8E	NM_003701.3	deleterious(0.01)		5/5		PROSITE_profiles:PS50049,hmmpanther:PTHR11471:SF3,hmmpanther:PTHR11471,Pfam_domain:PF00229,Gene3D:2.60.120.40,PIRSF_domain:PIRSF038013,SMART_domains:SM00207,Superfamily_domains:SSF49842											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	57	42606841	42606841	G	C	1	0	0	0	0	1	0	0	0	16776	1261	44	4		4	TNFSF11	13	42606841	Missense_Mutation	SNP	G	C3N-00560_TP	1857578	42606841	71757487	929	18868											
FAM216B	0	.	GRCh38	chr13	42788771	42788771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggcccaaagtaaaaggcGccaagtgctcaggaactgag	14	5	13	9	1	1	1	1	1	0	0	1	2	1	2	2	3	2	2	2	3	6	2	rs749283387		C3N-00560_TP	C3N-00560_NB	G	G																c.401G>A	p.Arg134His	p.R134H	ENST00000537894	4/4	92	53	39	98	98	0	strelka-varscan-mutect	FAM216B,missense_variant,p.Arg134His,ENST00000537894,NM_001318932.1,NM_182508.2;FAM216B,missense_variant,p.Arg134His,ENST00000313851,;	A	ENST00000537894	Transcript	missense_variant	524/3300	401/420	134/139	R/H	cGc/cAc	rs749283387,COSM3955608	1		1	FAM216B	HGNC	HGNC:26883	protein_coding	YES	CCDS9386.1	ENSP00000445786	Q8N7L0		UPI0000070E45	NM_001318932.1,NM_182508.2	tolerated_low_confidence(0.22)		4/4		hmmpanther:PTHR16476,hmmpanther:PTHR16476:SF3											0,1						MODERATE	1	SNV	4		0,1	1										PASS		rs749283387	.												A	3	1	57	42788771	42788771	G	A	1	0	0	0	0	1	0	0	0	5405	1087	38	1		1	FAM216B	13	42788771	Missense_Mutation	SNP	G	C3N-00560_TP	181930	42788771	71575557	930	18869											
PCDH8	0	.	GRCh38	chr13	52846922	52846922	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggttgttctcgcgcacCgacacctcatagaccggccg	6	7	13	15	6	2	1	1	0	1	1	3	2	2	1	4	3	0	3	4	3	1	3	rs761213188		C3N-00560_TP	C3N-00560_NB	C	C																c.1515G>T	p.=	p.S505S	ENST00000377942	1/3	155	80	75	162	161	1	strelka-varscan-mutect	PCDH8,synonymous_variant,p.=,ENST00000377942,NM_002590.3;PCDH8,synonymous_variant,p.=,ENST00000338862,NM_032949.2;PCDH8,upstream_gene_variant,,ENST00000613548,;	A	ENST00000377942	Transcript	synonymous_variant	1719/5088	1515/3213	505/1070	S	tcG/tcT	rs761213188,COSM4048117	1		-1	PCDH8	HGNC	HGNC:8660	protein_coding	YES	CCDS9438.1	ENSP00000367177	O95206		UPI0000072D47	NM_002590.3			1/3		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF46,Superfamily_domains:SSF49313											0,1						LOW	1	SNV	1		0,1	1										PASS		rs761213188	.												A	2	1	57	52846922	52846922	C	A	1	0	0	0	0	0	0	0	1	11604	639	23	1		1	PCDH8	13	52846922	Silent	SNP	C	C3N-00560_TP	10058151	52846922	61517406	931	18870											
PCDH17	0	.	GRCh38	chr13	57634153	57634153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgaacggggccatctacgCcctgcgctcctttaacttcg	7	9	9	16	5	1	0	0	0	1	0	3	1	2	0	3	2	4	1	3	2	3	4			C3N-00560_TP	C3N-00560_NB	C	C																c.1607C>A	p.Ala536Asp	p.A536D	ENST00000377918	1/4	341	187	154	465	464	1	strelka-varscan-mutect	PCDH17,missense_variant,p.Ala536Asp,ENST00000377918,NM_001040429.2;PCDH17,upstream_gene_variant,,ENST00000612954,;PCDH17,upstream_gene_variant,,ENST00000615375,;RP11-95F22.1,upstream_gene_variant,,ENST00000610846,;PCDH17,missense_variant,p.Ala536Asp,ENST00000484979,;	A	ENST00000377918	Transcript	missense_variant	2342/8232	1607/3480	536/1159	A/D	gCc/gAc	COSM551856	1		1	PCDH17	HGNC	HGNC:14267	protein_coding	YES	CCDS31986.1	ENSP00000367151	O14917		UPI00001FCE5B	NM_001040429.2	deleterious(0)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	57	57634153	57634153	C	A	1	0	0	0	0	1	0	0	0	11599	739	26	2		2	PCDH17	13	57634153	Missense_Mutation	SNP	C	C3N-00560_TP	4787231	57634153	56730175	932	18871											
KLHL1	0	.	GRCh38	chr13	69796896	69796896	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccaaactgcagccttctgCcattcatcatccctgcctgg	8	10	6	17	0	3	0	2	0	1	0	4	0	4	0	5	1	5	1	5	1	1	2	rs111395379		C3N-00560_TP	C3N-00560_NB	C	C																c.1481G>C	p.Gly494Ala	p.G494A	ENST00000377844	7/11	308	272	36	301	301	0	strelka-varscan-mutect	KLHL1,missense_variant,p.Gly494Ala,ENST00000377844,NM_020866.2;KLHL1,missense_variant,p.Gly433Ala,ENST00000545028,NM_001286725.1;	G	ENST00000377844	Transcript	missense_variant	2241/4115	1481/2247	494/748	G/A	gGc/gCc	rs111395379	1		-1	KLHL1	HGNC	HGNC:6352	protein_coding	YES	CCDS9445.1	ENSP00000367075	Q9NR64		UPI000004B136	NM_020866.2	tolerated(0.07)		7/11		hmmpanther:PTHR24412:SF75,hmmpanther:PTHR24412,Gene3D:1k3iA02,SMART_domains:SM00612,Superfamily_domains:0052715																	MODERATE	1	SNV	1			1										PASS		rs111395379	.												G	3	3	57	69796896	69796896	C	G	1	0	0	0	0	1	0	0	0	8229	739	26	4		4	KLHL1	13	69796896	Missense_Mutation	SNP	C	C3N-00560_TP	12162743	69796896	44567432	933	18872											
TBC1D4	0	.	GRCh38	chr13	75362184	75362184	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccgaaactcctgctgctCatcaaagccagaatcttcca	13	8	6	14	1	3	2	2	0	1	2	5	3	5	2	4	0	4	2	4	0	3	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.922G>T	p.Glu308Ter	p.E308*	ENST00000377636	2/21	378	311	67	425	424	1	strelka-varscan-mutect	TBC1D4,stop_gained,p.Glu308Ter,ENST00000377636,NM_014832.3;TBC1D4,stop_gained,p.Glu308Ter,ENST00000431480,NM_001286658.1;TBC1D4,stop_gained,p.Glu308Ter,ENST00000377625,NM_001286659.1;	A	ENST00000377636	Transcript	stop_gained	1269/6364	922/3897	308/1298	E/*	Gag/Tag		1		-1	TBC1D4	HGNC	HGNC:19165	protein_coding	YES	CCDS41901.1	ENSP00000366863	O60343		UPI00001AE7B3	NM_014832.3			2/21		SMART_domains:SM00462																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	57	75362184	75362184	C	A	1	0	0	0	0	0	1	0	0	16027	835	29	2		2	TBC1D4	13	75362184	Nonsense_Mutation	SNP	C	C3N-00560_TP	5565288	75362184	39002144	934	18873											
RBM26	0	.	GRCh38	chr13	79366868	79366868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctctcatacaaaaaccCttttctatgaggaaggaata	14	12	5	10	0	3	1	1	1	3	0	5	3	3	3	2	2	2	0	2	2	7	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.900G>T	p.Lys300Asn	p.K300N	ENST00000622611	7/22	62	48	14	67	67	0	strelka-varscan-mutect	RBM26,missense_variant,p.Lys300Asn,ENST00000622611,NM_001286631.1;RBM26,missense_variant,p.Lys300Asn,ENST00000438724,NM_001286632.1;RBM26,missense_variant,p.Lys300Asn,ENST00000438737,;RBM26,missense_variant,p.Lys300Asn,ENST00000267229,NM_022118.4;RBM26,upstream_gene_variant,,ENST00000461008,;	A	ENST00000622611	Transcript	missense_variant	1347/5230	900/3030	300/1009	K/N	aaG/aaT		1		-1	RBM26	HGNC	HGNC:20327	protein_coding	YES	CCDS73591.1	ENSP00000483408		A0A087X0H9	UPI00016378C8	NM_001286631.1	deleterious(0)		7/22		Gene3D:1m9oA00,PROSITE_profiles:PS50103,hmmpanther:PTHR14398,hmmpanther:PTHR14398:SF2,SMART_domains:SM00356																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	79366868	79366868	C	A	1	0	0	0	0	1	0	0	0	13292	695	24	2		2	RBM26	13	79366868	Missense_Mutation	SNP	C	C3N-00560_TP	4004684	79366868	34997460	935	18874											
SLITRK1	0	.	GRCh38	chr13	83880101	83880101	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatcctcagtttgggcatGgcattgaaagtgcccgggag	9	9	15	8	1	1	1	1	1	0	0	2	3	2	3	2	4	1	3	2	4	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1407C>A	p.=	p.A469A	ENST00000377084	1/1	138	82	56	146	146	0	strelka-varscan-mutect	SLITRK1,synonymous_variant,p.=,ENST00000377084,NM_052910.2,NM_001281503.1;	T	ENST00000377084	Transcript	synonymous_variant	2293/5189	1407/2091	469/696	A	gcC/gcA		1		-1	SLITRK1	HGNC	HGNC:20297	protein_coding	YES	CCDS9464.1	ENSP00000366288	Q96PX8		UPI0000035971	NM_052910.2,NM_001281503.1			1/1		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF33,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV				1										PASS		.	.												T	2	4	57	83880101	83880101	G	T	1	0	0	0	0	0	0	0	1	15033	1335	47	2		2	SLITRK1	13	83880101	Silent	SNP	G	C3N-00560_TP	4513233	83880101	30484227	936	18875											
CCDC168	0	.	GRCh38	chr13	102729931	102729931	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgcaagatgtgatttaatAtttgattcagttaagggagc	12	16	10	3	0	1	3	1	2	0	1	1	4	1	4	0	1	2	2	0	1	4	7	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.20766T>C	p.=	p.N6922N	ENST00000322527	4/4	268	121	147	229	229	0	strelka-varscan-mutect	CCDC168,synonymous_variant,p.=,ENST00000322527,NM_001146197.1;	G	ENST00000322527	Transcript	synonymous_variant	20904/21466	20766/21246	6922/7081	N	aaT/aaC		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1			4/4		hmmpanther:PTHR35542,hmmpanther:PTHR35542:SF1																	LOW	1	SNV	3			1										PASS		.	.												G	2	3	57	102729931	102729931	A	G	1	0	0	0	0	0	0	0	1	2484	446	16	5		5	CCDC168	13	102729931	Silent	SNP	A	C3N-00560_TP	18849830	102729931	11634397	937	18876											
MYO16	0	.	GRCh38	chr13	108964819	108964819	+	Frame_Shift_Del	DEL	G	G	-																															gagtttttccgagacctcttGgccaagtccctgtacagtcg																										C3N-00560_TP	C3N-00560_NB	G	G																c.2287delG	p.Ala763ProfsTer13	p.A763Pfs*13	ENST00000457511	20/35	170	67	103	171	171	0	sindel-varindel-pindel	MYO16,frameshift_variant,p.Ala763ProfsTer13,ENST00000457511,NM_001198950.1;MYO16,frameshift_variant,p.Ala741ProfsTer13,ENST00000356711,NM_015011.1;MYO16,frameshift_variant,p.Ala741ProfsTer13,ENST00000357550,;MYO16,frameshift_variant,p.Ala741ProfsTer13,ENST00000251041,;MYO16,non_coding_transcript_exon_variant,,ENST00000375857,;	-	ENST00000457511	Transcript	frameshift_variant	2908/7436	2286/5643	762/1880	L/X	ttG/tt	COSM5034596,COSM5034597,COSM5034598	1		1	MYO16	HGNC	HGNC:29822	protein_coding	YES	CCDS73598.1	ENSP00000401633		F8W883	UPI00002375AE	NM_001198950.1			20/35		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,SMART_domains:SM00242,Superfamily_domains:SSF52540											1,1,1						HIGH	1	deletion	1	1	1,1,1	1										PASS		.	.												-	7	5	57	108964819	108964819	G	-	1	0	1	0	1	0	0	0	0	10065	1339	47	0		0	MYO16	13	108964819	Frame_Shift_Del	DEL	G	C3N-00560_TP	6234888	108964819	5399509	938	18877											
IRS2	0	.	GRCh38	chr13	109785147	109785147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgattggctcttactgcGcggccggaactcgaagagct	8	8	13	12	6	1	1	0	0	1	1	2	5	1	2	1	3	4	2	1	3	3	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.907C>T	p.Arg303Cys	p.R303C	ENST00000375856	1/2	444	134	310	269	269	0	strelka-varscan-mutect	IRS2,missense_variant,p.Arg303Cys,ENST00000375856,NM_003749.2;RP11-40E6.1,upstream_gene_variant,,ENST00000615635,;	A	ENST00000375856	Transcript	missense_variant	1422/8138	907/4017	303/1338	R/C	Cgc/Tgc		1		-1	IRS2	HGNC	HGNC:6126	protein_coding	YES	CCDS9510.1	ENSP00000365016	Q9Y4H2		UPI000006E4A8	NM_003749.2	deleterious(0)		1/2		hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	109785147	109785147	G	A	1	0	0	0	0	1	0	0	0	7749	1087	38	1		1	IRS2	13	109785147	Missense_Mutation	SNP	G	C3N-00560_TP	820328	109785147	4579181	939	18878											
COL4A2	0	.	GRCh38	chr13	110457381	110457381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcaaaaggaagagcaGgcttccctgggcttcccggc	11	5	14	11	1	0	1	0	0	0	1	2	3	2	3	2	5	2	4	2	5	4	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1378G>T	p.Gly460Cys	p.G460C	ENST00000360467	21/48	598	205	393	487	487	0	strelka-varscan-mutect	COL4A2,missense_variant,p.Gly460Cys,ENST00000360467,NM_001846.2;COL4A2,upstream_gene_variant,,ENST00000617564,;COL4A2-AS2,intron_variant,,ENST00000458403,;COL4A2,upstream_gene_variant,,ENST00000478681,;	T	ENST00000360467	Transcript	missense_variant	1684/6281	1378/5139	460/1712	G/C	Ggc/Tgc		1		1	COL4A2	HGNC	HGNC:2203	protein_coding	YES	CCDS41907.1	ENSP00000353654	P08572	A0A024RDW8	UPI000041C713	NM_001846.2	deleterious(0)		21/48		Pfam_domain:PF01391																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	57	110457381	110457381	G	T	1	0	0	0	0	1	0	0	0	3479	1000	35	2		2	COL4A2	13	110457381	Missense_Mutation	SNP	G	C3N-00560_TP	672234	110457381	3906947	940	18879											
POTEM	0	.	GRCh38	chr14	18967499	18967499	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagatggtggctgaggCtggttcaatgccggctgcct	8	9	15	9	1	1	2	1	1	0	1	1	2	1	2	2	5	3	5	2	5	2	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.14C>A	p.Ala5Asp	p.A5D	ENST00000547889	1/11	91	78	13	121	121	0	varscan-mutect	POTEM,missense_variant,p.Ala5Asp,ENST00000547889,NM_001145442.1;POTEM,missense_variant,p.Ala5Asp,ENST00000552966,;POTEM,missense_variant,p.Ala5Asp,ENST00000616847,;	A	ENST00000547889	Transcript	missense_variant	66/1817	14/1527	5/508	A/D	gCt/gAt		1		1	POTEM	HGNC	HGNC:37096	protein_coding	YES	CCDS73609.1	ENSP00000448062	A6NI47		UPI00006C1407	NM_001145442.1	deleterious_low_confidence(0)		1/11																			MODERATE	1	SNV	1			1										PASS		rs1231316269	.												A	3	1	57	18967499	18967499	C	A	1	0	0	0	0	1	0	0	0	12384	797	28	2		2	POTEM	14	18967499	Missense_Mutation	SNP	C	C3N-00560_TP		18967499	88076219	941	18880											
POTEG	0	.	GRCh38	chr14	19433970	19433970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccgctccccctgcagcagGggaagcagtggcagcaccac	8	4	13	16	1	0	0	0	0	0	0	1	1	1	1	4	3	5	6	4	3	1	0	rs768540032		C3N-00560_TP	C3N-00560_NB	G	G																c.320C>A	p.Pro107His	p.P107H	ENST00000547848	1/11	1316	1152	164	1764	1764	0	varscan-mutect	POTEG,missense_variant,p.Pro107His,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Pro107His,ENST00000547722,;POTEG,missense_variant,p.Pro107His,ENST00000622767,;	T	ENST00000547848	Transcript	missense_variant	372/2204	320/1527	107/508	P/H	cCc/cAc	rs768540032	1		-1	POTEG	HGNC	HGNC:33896	protein_coding	YES	CCDS73610.1	ENSP00000450853	Q6S5H5		UPI00004443FE	NM_001005356.2	deleterious_low_confidence(0)		1/11		hmmpanther:PTHR24118:SF43,hmmpanther:PTHR24118																	MODERATE	1	SNV	1			1										PASS		rs768540032	.												T	3	4	57	19433970	19433970	G	T	1	0	0	0	0	1	0	0	0	12380	1232	43	2		2	POTEG	14	19433970	Missense_Mutation	SNP	G	C3N-00560_TP	466471	19433970	87609748	942	18881											
POTEG	0	.	GRCh38	chr14	19434276	19434276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagccggcattgaaccaGcctcagccaccatctgcttt	9	8	9	15	1	2	1	1	1	1	0	2	1	2	1	5	2	5	3	5	2	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.14C>A	p.Ala5Asp	p.A5D	ENST00000547848	1/11	350	313	37	511	511	0	varscan-mutect	POTEG,missense_variant,p.Ala5Asp,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Ala5Asp,ENST00000547722,;POTEG,missense_variant,p.Ala5Asp,ENST00000622767,;	T	ENST00000547848	Transcript	missense_variant	66/2204	14/1527	5/508	A/D	gCt/gAt		1		-1	POTEG	HGNC	HGNC:33896	protein_coding	YES	CCDS73610.1	ENSP00000450853	Q6S5H5		UPI00004443FE	NM_001005356.2	deleterious_low_confidence(0)		1/11																			MODERATE	1	SNV	1			1										PASS		rs1380408511	.												T	3	4	57	19434276	19434276	G	T	1	0	0	0	0	1	0	0	0	12380	971	34	2		2	POTEG	14	19434276	Missense_Mutation	SNP	G	C3N-00560_TP	306	19434276	87609442	943	18882											
KLHL33	0	.	GRCh38	chr14	20430157	20430157	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcccggctgcccgcaccctCcgcaactccctggtggacat	6	6	10	19	3	0	0	0	0	0	0	2	1	2	1	5	3	3	3	5	3	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.519G>T	p.=	p.R173R	ENST00000344581	2/4	266	178	88	220	220	0	strelka-varscan-mutect	KLHL33,synonymous_variant,p.=,ENST00000637228,;KLHL33,synonymous_variant,p.=,ENST00000636854,;KLHL33,synonymous_variant,p.=,ENST00000344581,NM_001109997.2;	A	ENST00000344581	Transcript	synonymous_variant	742/1863	519/1602	173/533	R	cgG/cgT		1		-1	KLHL33	HGNC	HGNC:31952	protein_coding	YES	CCDS53882.1	ENSP00000341549	A6NCF5		UPI00016630E8	NM_001109997.2			2/4		hmmpanther:PTHR24412:SF195,hmmpanther:PTHR24412,Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,SMART_domains:SM00875																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	57	20430157	20430157	C	A	1	0	0	0	0	0	0	0	1	8252	842	30	2		2	KLHL33	14	20430157	Silent	SNP	C	C3N-00560_TP	995881	20430157	86613561	944	18883											
OXA1L	0	.	GRCh38	chr14	22771349	22771349	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttggagctagcagccagggGtaaatagtcctttcaggcca	10	9	13	9	0	1	0	1	0	0	0	2	1	2	1	3	4	3	4	3	4	4	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1363+1G>T		p.X455_splice	ENST00000612549		96	57	39	87	87	0	strelka-varscan-mutect	OXA1L,splice_donor_variant,,ENST00000612549,;OXA1L,splice_donor_variant,,ENST00000358043,;OXA1L,splice_donor_variant,,ENST00000285848,NM_005015.3;OXA1L,splice_donor_variant,,ENST00000604262,;OXA1L,intron_variant,,ENST00000412791,;SLC7A7,downstream_gene_variant,,ENST00000397532,;SLC7A7,downstream_gene_variant,,ENST00000555702,NM_001126106.2;SLC7A7,downstream_gene_variant,,ENST00000285850,;SLC7A7,downstream_gene_variant,,ENST00000397528,NM_001126105.2;SLC7A7,downstream_gene_variant,,ENST00000397529,;SLC7A7,downstream_gene_variant,,ENST00000554517,;OXA1L,downstream_gene_variant,,ENST00000431881,;SLC7A7,downstream_gene_variant,,ENST00000556350,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554857,;CTD-2555K7.2,upstream_gene_variant,,ENST00000553792,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554730,;SLC7A7,downstream_gene_variant,,ENST00000554061,;OXA1L,splice_donor_variant,,ENST00000495424,;OXA1L,splice_donor_variant,,ENST00000481218,;SLC7A7,downstream_gene_variant,,ENST00000556287,;OXA1L,downstream_gene_variant,,ENST00000483939,;SLC7A7,downstream_gene_variant,,ENST00000555678,;OXA1L,downstream_gene_variant,,ENST00000473744,;OXA1L,downstream_gene_variant,,ENST00000442110,;OXA1L,downstream_gene_variant,,ENST00000556473,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554194,;OXA1L,downstream_gene_variant,,ENST00000557299,;	T	ENST00000612549	Transcript	splice_donor_variant	-/2971	1363/1488	455/495				1		1	OXA1L	HGNC	HGNC:8526	protein_coding	YES	CCDS9573.1	ENSP00000483491		J3KNA0	UPI000013DE11					9/9																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	57	22771349	22771349	G	T	1	0	0	0	0	0	0	1	0	11400	1275	44	2		2	OXA1L	14	22771349	Splice_Site	SNP	G	C3N-00560_TP	2341192	22771349	84272369	945	18884											
CEBPE	0	.	GRCh38	chr14	23118671	23118671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgccacttggtactgcaGgggattgtagctgcctcggc	5	11	15	10	1	0	0	0	0	0	0	1	1	0	1	2	4	5	4	2	4	2	4			C3N-00560_TP	C3N-00560_NB	G	G																c.421C>A	p.Leu141Met	p.L141M	ENST00000206513	1/2	154	117	37	130	130	0	strelka-varscan-mutect	CEBPE,missense_variant,p.Leu141Met,ENST00000206513,NM_001805.3;	T	ENST00000206513	Transcript	missense_variant	946/1554	421/846	141/281	L/M	Ctg/Atg	COSM1470674	1		-1	CEBPE	HGNC	HGNC:1836	protein_coding	YES	CCDS9589.1	ENSP00000206513	Q15744		UPI000013C660	NM_001805.3	tolerated(0.12)		1/2		PIRSF_domain:PIRSF005879,hmmpanther:PTHR23334,hmmpanther:PTHR23334:SF27											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	57	23118671	23118671	G	T	1	0	0	0	0	1	0	0	0	2908	991	35	2		2	CEBPE	14	23118671	Missense_Mutation	SNP	G	C3N-00560_TP	347322	23118671	83925047	946	18885											
EMC9	0	.	GRCh38	chr14	24141294	24141294	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccagggccgagatctccAcctcccccatggcgagcgag	8	4	13	16	3	1	1	0	0	1	1	3	4	2	1	6	3	1	0	6	3	0	0	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.11T>C	p.Val4Ala	p.V4A	ENST00000419198	1/5	282	186	96	231	231	0	strelka-varscan-mutect	EMC9,missense_variant,p.Val4Ala,ENST00000419198,;EMC9,missense_variant,p.Val4Ala,ENST00000216799,NM_016049.3;EMC9,intron_variant,,ENST00000560403,;PSME2,downstream_gene_variant,,ENST00000216802,NM_002818.2;PSME1,downstream_gene_variant,,ENST00000382708,NM_176783.2;PSME1,downstream_gene_variant,,ENST00000559123,;PSME1,downstream_gene_variant,,ENST00000206451,NM_001281529.1,NM_006263.3;PSME1,downstream_gene_variant,,ENST00000561435,NM_001281528.1;PSME2,downstream_gene_variant,,ENST00000615264,;PSME2,downstream_gene_variant,,ENST00000560410,;PSME2,downstream_gene_variant,,ENST00000559056,;PSME2,downstream_gene_variant,,ENST00000630027,;RP11-468E2.5,downstream_gene_variant,,ENST00000558478,;PSME2,downstream_gene_variant,,ENST00000620784,;EMC9,non_coding_transcript_exon_variant,,ENST00000558200,;PSME2,downstream_gene_variant,,ENST00000471700,;PSME1,downstream_gene_variant,,ENST00000470718,;PSME2,downstream_gene_variant,,ENST00000559613,;EMC9,missense_variant,p.Val4Ala,ENST00000560600,;PSME2,downstream_gene_variant,,ENST00000558931,;PSME2,downstream_gene_variant,,ENST00000559453,;PSME2,downstream_gene_variant,,ENST00000558273,;PSME1,downstream_gene_variant,,ENST00000561059,;PSME1,downstream_gene_variant,,ENST00000560420,;PSME1,downstream_gene_variant,,ENST00000561142,;PSME2,downstream_gene_variant,,ENST00000560788,;PSME1,downstream_gene_variant,,ENST00000559741,;PSME2,downstream_gene_variant,,ENST00000560592,;PSME2,downstream_gene_variant,,ENST00000559493,;PSME1,downstream_gene_variant,,ENST00000558112,;PSME2,downstream_gene_variant,,ENST00000559042,;PSME2,downstream_gene_variant,,ENST00000560370,;EMC9,upstream_gene_variant,,ENST00000558045,;EMC9,upstream_gene_variant,,ENST00000559101,;PSME2,downstream_gene_variant,,ENST00000559005,;PSME2,downstream_gene_variant,,ENST00000559359,;	G	ENST00000419198	Transcript	missense_variant	292/953	11/627	4/208	V/A	gTg/gCg		1		-1	EMC9	HGNC	HGNC:20273	protein_coding	YES	CCDS9613.1	ENSP00000403210	Q9Y3B6		UPI000013C709		deleterious(0)		1/5		Pfam_domain:PF03665,hmmpanther:PTHR12941,hmmpanther:PTHR12941:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	24141294	24141294	A	G	1	0	0	0	0	1	0	0	0	4929	159	6	5		5	EMC9	14	24141294	Missense_Mutation	SNP	A	C3N-00560_TP	1022623	24141294	82902424	947	18886											
NFATC4	0	.	GRCh38	chr14	24373861	24373861	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcatcggtgcccatcGagtgctgtgagcaaagaggc	10	6	15	10	2	0	2	0	1	0	1	2	3	0	2	1	3	4	4	1	3	1	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1915G>T	p.Glu639Ter	p.E639*	ENST00000413692	6/10	497	353	144	434	434	0	strelka-varscan-mutect	NFATC4,stop_gained,p.Glu639Ter,ENST00000413692,NM_001136022.2;NFATC4,stop_gained,p.Glu608Ter,ENST00000539237,;NFATC4,stop_gained,p.Glu506Ter,ENST00000557451,;NFATC4,stop_gained,p.Glu564Ter,ENST00000422617,NM_001288802.1;NFATC4,stop_gained,p.Glu589Ter,ENST00000424781,;NFATC4,stop_gained,p.Glu576Ter,ENST00000553708,;NFATC4,stop_gained,p.Glu576Ter,ENST00000250373,NM_001320043.1,NM_004554.4;NFATC4,stop_gained,p.Glu111Ter,ENST00000555167,;NFATC4,stop_gained,p.Glu564Ter,ENST00000555453,;NFATC4,stop_gained,p.Glu576Ter,ENST00000554050,NM_001198965.1;NFATC4,stop_gained,p.Glu506Ter,ENST00000554344,;NFATC4,stop_gained,p.Glu608Ter,ENST00000556279,;NFATC4,stop_gained,p.Glu639Ter,ENST00000554591,NM_001198967.2;NFATC4,stop_gained,p.Glu589Ter,ENST00000555590,;NFATC4,stop_gained,p.Glu506Ter,ENST00000553879,NM_001198966.2;NFATC4,stop_gained,p.Glu506Ter,ENST00000554661,;NFATC4,stop_gained,p.Glu608Ter,ENST00000553469,;NFATC4,stop_gained,p.Glu564Ter,ENST00000556169,;NFATC4,stop_gained,p.Glu589Ter,ENST00000554966,;NFATC4,stop_gained,p.Glu111Ter,ENST00000556759,;NFATC4,stop_gained,p.Glu111Ter,ENST00000554473,;NFATC4,upstream_gene_variant,,ENST00000555393,;NFATC4,upstream_gene_variant,,ENST00000555802,;NFATC4,downstream_gene_variant,,ENST00000557674,;NFATC4,upstream_gene_variant,,ENST00000557767,;NFATC4,downstream_gene_variant,,ENST00000554779,;NFATC4,downstream_gene_variant,,ENST00000554903,;NFATC4,downstream_gene_variant,,ENST00000440487,;NFATC4,upstream_gene_variant,,ENST00000555821,;NFATC4,non_coding_transcript_exon_variant,,ENST00000554655,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556302,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556957,;NFATC4,non_coding_transcript_exon_variant,,ENST00000557028,;	T	ENST00000413692	Transcript	stop_gained	2059/5700	1915/2895	639/964	E/*	Gag/Tag		1		1	NFATC4	HGNC	HGNC:7778	protein_coding	YES	CCDS45089.1	ENSP00000388910	Q14934		UPI00017BD050	NM_001136022.2			6/10		PROSITE_profiles:PS50254,hmmpanther:PTHR12533:SF11,hmmpanther:PTHR12533,Pfam_domain:PF00554,Gene3D:2.60.40.340,Superfamily_domains:SSF49417,Prints_domain:PR01789																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	24373861	24373861	G	T	1	0	0	0	0	0	1	0	0	10402	1059	37	1		1	NFATC4	14	24373861	Nonsense_Mutation	SNP	G	C3N-00560_TP	232567	24373861	82669857	948	18887											
CMA1	0	.	GRCh38	chr14	24506038	24506038	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggatcaccttaaatgcaGattttgtcttcctgggattg	9	14	11	7	0	2	1	1	0	1	1	3	4	3	4	2	3	1	1	2	3	2	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.590C>G	p.Ser197Cys	p.S197C	ENST00000250378	4/5	176	111	65	167	167	0	strelka-varscan-mutect	CMA1,missense_variant,p.Ser197Cys,ENST00000250378,NM_001836.3;CMA1,missense_variant,p.Ser86Cys,ENST00000206446,NM_001308083.1;RP11-80A15.1,intron_variant,,ENST00000555109,;	C	ENST00000250378	Transcript	missense_variant	620/937	590/744	197/247	S/C	tCt/tGt		1		-1	CMA1	HGNC	HGNC:2097	protein_coding	YES	CCDS9630.1	ENSP00000250378	P23946		UPI000012EDED	NM_001836.3	deleterious(0.04)		4/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF24,PROSITE_patterns:PS00135,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722																	MODERATE	1	SNV	1			1										PASS		rs1462507754	.												C	3	2	57	24506038	24506038	G	C	1	0	0	0	0	1	0	0	0	3347	942	33	4		4	CMA1	14	24506038	Missense_Mutation	SNP	G	C3N-00560_TP	132177	24506038	82537680	949	18888											
NPAS3	0	.	GRCh38	chr14	33793978	33793978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatttggatacagtccagtgCcaccatagctattaatgcca	12	12	7	10	0	0	0	0	0	0	0	1	1	1	1	4	1	4	1	4	1	5	6			C3N-00560_TP	C3N-00560_NB	C	C																c.1235C>A	p.Ala412Asp	p.A412D	ENST00000356141	10/12	183	142	41	199	199	0	strelka-varscan-mutect	NPAS3,missense_variant,p.Ala380Asp,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Ala382Asp,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Ala417Asp,ENST00000551492,;NPAS3,missense_variant,p.Ala412Asp,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Ala399Asp,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Ala389Asp,ENST00000551634,;	A	ENST00000356141	Transcript	missense_variant	1235/2802	1235/2802	412/933	A/D	gCc/gAc	COSM1726657,COSM1726658,COSM1726659	1		1	NPAS3	HGNC	HGNC:19311	protein_coding	YES	CCDS53891.1	ENSP00000348460	Q8IXF0	X5D2Q4	UPI00000743C2	NM_001164749.1	deleterious(0.01)		10/12		Low_complexity_(Seg):seg,hmmpanther:PTHR23043:SF30,hmmpanther:PTHR23043,Pfam_domain:PF08447,Gene3D:3.30.450.20,Superfamily_domains:SSF55785											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	57	33793978	33793978	C	A	1	0	0	0	0	1	0	0	0	10612	739	26	2		2	NPAS3	14	33793978	Missense_Mutation	SNP	C	C3N-00560_TP	9287940	33793978	73249740	950	18889											
LRFN5	0	.	GRCh38	chr14	41891362	41891362	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcacttccctcactgccAcaagagtcgtgggttgcatc	8	10	9	14	1	2	1	2	0	0	1	5	1	3	1	2	1	2	3	2	1	1	2	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1498A>T	p.Thr500Ser	p.T500S	ENST00000298119	4/6	312	219	93	288	287	1	strelka-varscan-mutect	LRFN5,missense_variant,p.Thr500Ser,ENST00000298119,NM_152447.3;LRFN5,intron_variant,,ENST00000554171,;LRFN5,intron_variant,,ENST00000554120,;	T	ENST00000298119	Transcript	missense_variant	2687/3723	1498/2160	500/719	T/S	Aca/Tca		1		1	LRFN5	HGNC	HGNC:20360	protein_coding	YES	CCDS9678.1	ENSP00000298119	Q96NI6		UPI000000DA1E	NM_152447.3	deleterious(0)		4/6		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3																	MODERATE	1	SNV	1			1										PASS		rs1161531791	.												T	3	4	57	41891362	41891362	A	T	1	0	0	0	0	1	0	0	0	8835	159	6	4		4	LRFN5	14	41891362	Missense_Mutation	SNP	A	C3N-00560_TP	8097384	41891362	65152356	951	18890											
MDGA2	0	.	GRCh38	chr14	47061387	47061387	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttgttcccggagagacatCaggatcagtctgtgtaatga	10	12	12	7	1	3	2	2	1	1	1	4	5	4	4	1	2	0	3	1	2	1	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1180G>C	p.Asp394His	p.D394H	ENST00000399232	7/17	193	127	66	225	225	0	strelka-varscan-mutect	MDGA2,missense_variant,p.Asp264His,ENST00000426342,;MDGA2,missense_variant,p.Asp394His,ENST00000399232,NM_001113498.2;MDGA2,missense_variant,p.Asp165His,ENST00000357362,NM_182830.4;MDGA2,missense_variant,p.Asp169His,ENST00000554762,;MDGA2,missense_variant,p.Asp165His,ENST00000557238,;MDGA2,missense_variant,p.Asp165His,ENST00000482848,;	G	ENST00000399232	Transcript	missense_variant	1545/5075	1180/2871	394/956	D/H	Gat/Cat		1		-1	MDGA2	HGNC	HGNC:19835	protein_coding	YES	CCDS45098.3	ENSP00000382178	Q7Z553		UPI00001C14FF	NM_001113498.2	deleterious(0)		7/17		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF62,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	47061387	47061387	C	G	1	0	0	0	0	1	0	0	0	9345	826	29	4		4	MDGA2	14	47061387	Missense_Mutation	SNP	C	C3N-00560_TP	5170025	47061387	59982331	952	18891											
KTN1	0	.	GRCh38	chr14	55640425	55640425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaagtgcagaaattacagGccctggcaaatgagcaggta	14	7	12	8	0	0	3	0	2	0	1	0	3	0	3	1	3	3	4	1	3	5	2	rs374085889		C3N-00560_TP	C3N-00560_NB	G	G																c.1966G>T	p.Ala656Ser	p.A656S	ENST00000395314	15/44	45	30	15	125	125	0	strelka-varscan-mutect	KTN1,missense_variant,p.Ala656Ser,ENST00000395314,NM_001271014.1,NM_001079521.1;KTN1,missense_variant,p.Ala656Ser,ENST00000395311,NM_001079522.1;KTN1,missense_variant,p.Ala656Ser,ENST00000413890,;KTN1,missense_variant,p.Ala656Ser,ENST00000438792,NM_004986.3;KTN1,missense_variant,p.Ala656Ser,ENST00000395308,;KTN1,missense_variant,p.Ala656Ser,ENST00000395309,;KTN1,upstream_gene_variant,,ENST00000554507,;KTN1,downstream_gene_variant,,ENST00000554567,;KTN1,upstream_gene_variant,,ENST00000554890,;KTN1,missense_variant,p.Ala656Ser,ENST00000459737,;KTN1,upstream_gene_variant,,ENST00000553360,;	T	ENST00000395314	Transcript	missense_variant	2034/4618	1966/4074	656/1357	A/S	Gcc/Tcc	rs374085889	1		1	KTN1	HGNC	HGNC:6467	protein_coding	YES	CCDS41957.1	ENSP00000378725	Q86UP2	A0A024R663	UPI0000190F88	NM_001271014.1,NM_001079521.1	deleterious(0.05)		15/44		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18864																	MODERATE	1	SNV	1			1										PASS		rs374085889	.												T	3	4	57	55640425	55640425	G	T	1	0	0	0	0	1	0	0	0	8483	1203	42	2		2	KTN1	14	55640425	Missense_Mutation	SNP	G	C3N-00560_TP	8579038	55640425	51403293	953	18892											
SYNE2	0	.	GRCh38	chr14	64020071	64020071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtttttgctccaaagcaGtgaaatacctcttgaattgc	12	13	7	9	0	1	2	0	2	1	0	2	2	2	2	2	0	4	3	2	0	4	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.5129G>T	p.Ser1710Ile	p.S1710I	ENST00000358025	35/116	124	81	43	253	253	0	strelka-varscan-mutect	SYNE2,missense_variant,p.Ser1710Ile,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Ser1710Ile,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Ser1710Ile,ENST00000357395,;SYNE2,missense_variant,p.Ser1710Ile,ENST00000554584,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557005,;	T	ENST00000358025	Transcript	missense_variant	5341/21842	5129/20724	1710/6907	S/I	aGt/aTt		1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2	deleterious(0.01)		35/116																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	64020071	64020071	G	T	1	0	0	0	0	1	0	0	0	15838	1029	36	2		2	SYNE2	14	64020071	Missense_Mutation	SNP	G	C3N-00560_TP	8379646	64020071	43023647	954	18893											
HSPA2	0	.	GRCh38	chr14	64541386	64541386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatcaacgagcccacggcGgcggccatcgcctacggcct	8	5	11	17	6	2	0	2	0	0	0	3	1	2	0	4	4	3	0	4	4	2	1			C3N-00560_TP	C3N-00560_NB	G	G																c.537G>A	p.=	p.A179A	ENST00000394709	2/2	325	166	159	359	359	0	strelka-varscan-mutect	HSPA2,synonymous_variant,p.=,ENST00000394709,;HSPA2,synonymous_variant,p.=,ENST00000247207,NM_021979.3;RP11-973N13.4,upstream_gene_variant,,ENST00000554918,;HSPA2,non_coding_transcript_exon_variant,,ENST00000554883,;	A	ENST00000394709	Transcript	synonymous_variant	613/5400	537/1920	179/639	A	gcG/gcA	COSM5509257	1		1	HSPA2	HGNC	HGNC:5235	protein_coding	YES	CCDS9766.1	ENSP00000378199	P54652	A0A024R6B5	UPI000012CC6A				2/2		Gene3D:3.30.420.40,Pfam_domain:PF00012,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF216,Superfamily_domains:SSF53067											1						LOW	1	SNV	1		1	1										PASS		rs1158063213	.												A	2	1	57	64541386	64541386	G	A	1	0	0	0	0	0	0	0	1	7307	1103	39	1		1	HSPA2	14	64541386	Silent	SNP	G	C3N-00560_TP	521315	64541386	42502332	955	18894											
MAP3K9	0	.	GRCh38	chr14	70732988	70732988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctgaaaaagaccctccCgtcttttcttctcctcccgg	7	12	5	17	2	4	2	0	1	4	1	7	2	6	2	5	1	0	0	5	1	2	3	rs745488869		C3N-00560_TP	C3N-00560_NB	C	C																c.2423G>T	p.Arg808Leu	p.R808L	ENST00000555993	12/13	172	93	79	198	198	0	strelka-varscan-mutect	MAP3K9,missense_variant,p.Arg794Leu,ENST00000554752,NM_001284230.1;MAP3K9,missense_variant,p.Arg570Leu,ENST00000611979,NM_001284231.1;MAP3K9,missense_variant,p.Arg808Leu,ENST00000555993,NM_033141.3;MAP3K9,missense_variant,p.Arg771Leu,ENST00000381250,;MAP3K9,missense_variant,p.Arg527Leu,ENST00000553414,NM_001284232.1;MAP3K9,missense_variant,p.Arg522Leu,ENST00000554146,;	A	ENST00000555993	Transcript	missense_variant	2786/4449	2423/3357	808/1118	R/L	cGg/cTg	rs745488869,COSM195156,COSM5237818	1		-1	MAP3K9	HGNC	HGNC:6861	protein_coding	YES	CCDS32112.1	ENSP00000451263	P80192		UPI00001D7B5C	NM_033141.3	tolerated(0.09)		12/13		Low_complexity_(Seg):seg,PIRSF_domain:PIRSF000556											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs745488869	.												A	3	1	57	70732988	70732988	C	A	1	0	0	0	0	1	0	0	0	9181	652	23	1		1	MAP3K9	14	70732988	Missense_Mutation	SNP	C	C3N-00560_TP	6191602	70732988	36310730	956	18895											
ALDH6A1	0	.	GRCh38	chr14	74067413	74067413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtttttggcatgctccaCcagctctggcagccacttct	6	12	9	14	0	2	0	0	0	2	0	3	0	3	0	3	3	3	5	3	3	0	3	rs778508150		C3N-00560_TP	C3N-00560_NB	C	C																c.1009G>T	p.Val337Leu	p.V337L	ENST00000553458	8/12	279	154	125	389	389	0	strelka-varscan-mutect	ALDH6A1,missense_variant,p.Val337Leu,ENST00000553458,NM_001278594.1,NM_005589.3;ALDH6A1,missense_variant,p.Val324Leu,ENST00000350259,NM_001278593.1;ALDH6A1,missense_variant,p.Val54Leu,ENST00000555126,;BBOF1,downstream_gene_variant,,ENST00000394009,NM_025057.2;BBOF1,intron_variant,,ENST00000492026,;ALDH6A1,downstream_gene_variant,,ENST00000556852,;ALDH6A1,downstream_gene_variant,,ENST00000553814,;ALDH6A1,non_coding_transcript_exon_variant,,ENST00000554501,;ALDH6A1,downstream_gene_variant,,ENST00000554231,;	A	ENST00000553458	Transcript	missense_variant	1108/5499	1009/1608	337/535	V/L	Gtg/Ttg	rs778508150	1		-1	ALDH6A1	HGNC	HGNC:7179	protein_coding	YES	CCDS9826.1	ENSP00000450436	Q02252	A0A024R6G4	UPI0000001610	NM_001278594.1,NM_005589.3	tolerated(0.07)		8/12		hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF183,TIGRFAM_domain:TIGR01722,Pfam_domain:PF00171,Gene3D:3.40.309.10,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		rs778508150	.												A	3	1	57	74067413	74067413	C	A	1	0	0	0	0	1	0	0	0	603	507	18	2		2	ALDH6A1	14	74067413	Missense_Mutation	SNP	C	C3N-00560_TP	3334425	74067413	32976305	957	18896											
LRRC74A	0	.	GRCh38	chr14	76852419	76852419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaataacttccacacaaGgggagctgtggccttgtgca	10	9	12	10	0	0	0	0	0	0	0	1	2	1	2	2	4	3	2	2	4	3	3	rs764157721		C3N-00560_TP	C3N-00560_NB	G	G																c.782G>A	p.Arg261Lys	p.R261K	ENST00000393774	8/14	133	68	65	141	141	0	strelka-varscan-mutect	LRRC74A,missense_variant,p.Arg261Lys,ENST00000393774,NM_194287.2;LRRC74A,3_prime_UTR_variant,,ENST00000484640,;LRRC74A,3_prime_UTR_variant,,ENST00000216450,;	A	ENST00000393774	Transcript	missense_variant	906/1648	782/1467	261/488	R/K	aGg/aAg	rs764157721	1		1	LRRC74A	HGNC	HGNC:23346	protein_coding	YES	CCDS9853.2	ENSP00000377369	Q0VAA2		UPI000155D520	NM_194287.2	tolerated(1)		8/14		hmmpanther:PTHR24114,Pfam_domain:PF13516,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	76852419	76852419	G	A	1	0	0	0	0	1	0	0	0	8921	1000	35	3		3	LRRC74A	14	76852419	Missense_Mutation	SNP	G	C3N-00560_TP	2785006	76852419	30191299	958	18897											
DIO2	0	.	GRCh38	chr14	80203072	80203072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgaggagaactcttccaCcagtttgcggaaggctggca	10	8	12	11	1	1	2	0	1	1	1	2	4	2	3	2	4	2	3	2	4	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.547G>A	p.Val183Met	p.V183M	ENST00000555750	3/3	108	60	48	150	150	0	strelka-varscan-mutect	DIO2,stop_gained,p.Trp21Ter,ENST00000557125,;DIO2,missense_variant,p.Val147Met,ENST00000557010,NM_001324462.1,NM_000793.5;DIO2,missense_variant,p.Val147Met,ENST00000438257,NM_013989.4;DIO2,missense_variant,p.Val183Met,ENST00000555750,NM_001007023.3;DIO2,3_prime_UTR_variant,,ENST00000422005,NM_001242503.2,NM_001242502.1;DIO2,3_prime_UTR_variant,,ENST00000556811,;DIO2,3_prime_UTR_variant,,ENST00000555844,;	T	ENST00000555750	Transcript	missense_variant	575/1049	547/930	183/309	V/M	Gtg/Atg		1		-1	DIO2	HGNC	HGNC:2884	protein_coding	YES	CCDS55934.1	ENSP00000450980		A0A0A0MTQ2	UPI000046D384	NM_001007023.3	deleterious(0.05)		3/3		Gene3D:3.40.30.10,Pfam_domain:PF00837,hmmpanther:PTHR11781,hmmpanther:PTHR11781:SF3,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	80203072	80203072	C	T	1	0	0	0	0	1	0	0	0	4330	508	18	3		3	DIO2	14	80203072	Missense_Mutation	SNP	C	C3N-00560_TP	3350653	80203072	26840646	959	18898											
PPP4R3A	0	.	GRCh38	chr14	91475966	91475966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctgtgtatcatccatgcCctgcagacaaaaaacattta	14	10	5	12	0	1	1	1	0	0	1	2	1	2	1	3	0	3	2	3	0	5	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1111G>T	p.Gly371Cys	p.G371C	ENST00000554684	7/15	59	35	24	59	59	0	strelka-varscan	PPP4R3A,missense_variant,p.Gly371Cys,ENST00000554684,NM_001284280.1;PPP4R3A,missense_variant,p.Gly371Cys,ENST00000554943,;PPP4R3A,missense_variant,p.Gly132Cys,ENST00000555462,NM_001284281.1;PPP4R3A,missense_variant,p.Gly151Cys,ENST00000555470,;PPP4R3A,missense_variant,p.Gly132Cys,ENST00000555029,;PPP4R3A,missense_variant,p.Gly371Cys,ENST00000554390,;PPP4R3A,missense_variant,p.Gly374Cys,ENST00000554308,;PPP4R3A,splice_region_variant,,ENST00000554574,;	A	ENST00000554684	Transcript	missense_variant,splice_region_variant	1608/4108	1111/2463	371/820	G/C	Ggc/Tgc		1		-1	PPP4R3A	HGNC	HGNC:20219	protein_coding	YES	CCDS9895.1	ENSP00000450864	Q6IN85	A0A024R6M2	UPI00001A95E2	NM_001284280.1	tolerated(0.07)		7/15		hmmpanther:PTHR23318:SF3,hmmpanther:PTHR23318,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	91475966	91475966	C	A	1	0	0	0	0	1	0	0	0	12527	637	22	2		2	PPP4R3A	14	91475966	Missense_Mutation	SNP	C	C3N-00560_TP	11272894	91475966	15567752	960	18899											
UNC79	0	.	GRCh38	chr14	93572034	93572034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccggaatggctggaagccatCagaacagaagtcccagataa	15	5	11	10	1	1	3	1	0	0	3	2	5	2	5	3	3	2	1	3	3	5	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1365C>G	p.Ile455Met	p.I455M	ENST00000256339	15/50	129	70	59	141	141	0	strelka-mutect	UNC79,missense_variant,p.Ile632Met,ENST00000553484,;UNC79,missense_variant,p.Ile632Met,ENST00000555664,;UNC79,missense_variant,p.Ile455Met,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Ile632Met,ENST00000393151,;UNC79,missense_variant,p.Ile455Met,ENST00000621021,;	G	ENST00000256339	Transcript	missense_variant	2020/8400	1365/7377	455/2458	I/M	atC/atG		1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3	tolerated(0.13)		15/50		hmmpanther:PTHR21696:SF2,hmmpanther:PTHR21696,Pfam_domain:PF14776																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	57	93572034	93572034	C	G	1	0	0	0	0	1	0	0	0	17520	816	29	4		4	UNC79	14	93572034	Missense_Mutation	SNP	C	C3N-00560_TP	2096068	93572034	13471684	961	18900											
CLMN	0	.	GRCh38	chr14	95203302	95203302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggaagataattcctcgcCcacaccctggaggtcatcgt	9	9	10	13	2	1	1	1	0	0	1	4	3	2	3	3	3	0	1	3	3	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2047G>T	p.Gly683Cys	p.G683C	ENST00000298912	9/13	228	133	95	259	259	0	strelka-varscan-mutect	CLMN,missense_variant,p.Gly683Cys,ENST00000298912,NM_024734.3;CLMN,non_coding_transcript_exon_variant,,ENST00000556454,;RP11-725G5.3,downstream_gene_variant,,ENST00000555482,;	A	ENST00000298912	Transcript	missense_variant	2161/12747	2047/3009	683/1002	G/C	Ggc/Tgc		1		-1	CLMN	HGNC	HGNC:19972	protein_coding	YES	CCDS9933.1	ENSP00000298912	Q96JQ2		UPI000006DB99	NM_024734.3	tolerated(0.07)		9/13		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	95203302	95203302	C	A	1	0	0	0	0	1	0	0	0	3311	623	22	2		2	CLMN	14	95203302	Missense_Mutation	SNP	C	C3N-00560_TP	1631268	95203302	11840416	962	18901											
WDR20	0	.	GRCh38	chr14	102139981	102139981	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagacccaattcaccaccCgggaaggtctgtacaagctg	12	8	9	12	1	2	1	1	0	1	1	2	2	2	2	3	2	2	2	3	2	5	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.58C>A	p.=	p.R20R	ENST00000454394	1/4	232	110	122	244	244	0	strelka-varscan-mutect	WDR20,synonymous_variant,p.=,ENST00000322340,NM_001242415.1;WDR20,synonymous_variant,p.=,ENST00000424963,;WDR20,synonymous_variant,p.=,ENST00000335263,NM_181291.2;WDR20,synonymous_variant,p.=,ENST00000342702,NM_144574.3,NM_001242418.1;WDR20,synonymous_variant,p.=,ENST00000556807,NM_001242416.1;WDR20,synonymous_variant,p.=,ENST00000299135,NM_001242414.1;WDR20,synonymous_variant,p.=,ENST00000556511,NM_181308.2;WDR20,synonymous_variant,p.=,ENST00000454394,NM_001242417.1;WDR20,synonymous_variant,p.=,ENST00000558567,;HSP90AA1,upstream_gene_variant,,ENST00000334701,NM_001017963.2;HSP90AA1,upstream_gene_variant,,ENST00000558600,;WDR20,non_coding_transcript_exon_variant,,ENST00000557186,;WDR20,non_coding_transcript_exon_variant,,ENST00000561154,;WDR20,intron_variant,,ENST00000557485,;WDR20,synonymous_variant,p.=,ENST00000555879,;WDR20,synonymous_variant,p.=,ENST00000556094,;HSP90AA1,upstream_gene_variant,,ENST00000557234,;	A	ENST00000454394	Transcript	synonymous_variant	68/2067	58/1803	20/600	R	Cgg/Agg		1		1	WDR20	HGNC	HGNC:19667	protein_coding	YES	CCDS55943.1	ENSP00000406084	Q8TBZ3		UPI0000E23AC1	NM_001242417.1			1/4		hmmpanther:PTHR14107,hmmpanther:PTHR14107:SF5																	LOW		SNV	2			1										PASS		.	.												A	2	1	57	102139981	102139981	C	A	1	0	0	0	0	0	0	0	1	17840	643	23	1		1	WDR20	14	102139981	Silent	SNP	C	C3N-00560_TP	6936679	102139981	4903737	963	18902											
KIF26A	0	.	GRCh38	chr14	104176422	104176422	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccactccagcctccccCggaaaccgaggactgcctct	8	6	7	20	2	1	0	0	0	1	0	4	3	4	2	8	2	3	0	8	2	1	0	rs200700317		C3N-00560_TP	C3N-00560_NB	C	C																c.3634C>A	p.=	p.R1212R	ENST00000423312	12/15	56	30	26	51	51	0	strelka-varscan-mutect	KIF26A,synonymous_variant,p.=,ENST00000315264,;KIF26A,synonymous_variant,p.=,ENST00000423312,NM_015656.1;	A	ENST00000423312	Transcript	synonymous_variant	3634/5649	3634/5649	1212/1882	R	Cgg/Agg	rs200700317	1		1	KIF26A	HGNC	HGNC:20226	protein_coding	YES	CCDS45171.1	ENSP00000388241	Q9ULI4		UPI00006C145D	NM_015656.1			12/15																			LOW	1	SNV	5			1										PASS		rs200700317	.												A	2	1	57	104176422	104176422	C	A	1	0	0	0	0	0	0	0	1	8159	643	23	1		1	KIF26A	14	104176422	Silent	SNP	C	C3N-00560_TP	2036441	104176422	2867296	964	18903											
KIF26A	0	.	GRCh38	chr14	104176711	104176711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggatcccaccgctgcggaGgggtgccaccacgctgggtg	5	6	16	14	4	0	0	0	0	0	0	2	2	1	2	4	5	2	2	4	5	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3923G>T	p.Arg1308Met	p.R1308M	ENST00000423312	12/15	51	27	24	59	59	0	strelka-varscan-mutect	KIF26A,missense_variant,p.Arg1169Met,ENST00000315264,;KIF26A,missense_variant,p.Arg1308Met,ENST00000423312,NM_015656.1;	T	ENST00000423312	Transcript	missense_variant	3923/5649	3923/5649	1308/1882	R/M	aGg/aTg		1		1	KIF26A	HGNC	HGNC:20226	protein_coding	YES	CCDS45171.1	ENSP00000388241	Q9ULI4		UPI00006C145D	NM_015656.1	deleterious(0)		12/15																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	104176711	104176711	G	T	1	0	0	0	0	1	0	0	0	8159	1000	35	2		2	KIF26A	14	104176711	Missense_Mutation	SNP	G	C3N-00560_TP	289	104176711	2867007	965	18904											
CEP170B	0	.	GRCh38	chr14	104886873	104886873	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagccagtggtcccccAgcgcccggcaagccccccca	7	2	11	21	2	0	0	0	0	0	0	1	1	1	0	8	2	4	1	8	2	1	0	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.2634A>T	p.=	p.P878P	ENST00000414716	12/19	173	96	77	229	229	0	strelka-varscan-mutect	CEP170B,synonymous_variant,p.=,ENST00000453495,;CEP170B,synonymous_variant,p.=,ENST00000414716,NM_001112726.2;CEP170B,synonymous_variant,p.=,ENST00000556508,NM_015005.2;	T	ENST00000414716	Transcript	synonymous_variant	2862/6705	2634/4665	878/1554	P	ccA/ccT		1		1	CEP170B	HGNC	HGNC:20362	protein_coding	YES	CCDS45175.1	ENSP00000404151	Q9Y4F5		UPI00001FDCF7	NM_001112726.2			12/19		Pfam_domain:PF15308,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF18,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	104886873	104886873	A	T	1	0	0	0	0	0	0	0	1	2965	175	7	4		4	CEP170B	14	104886873	Silent	SNP	A	C3N-00560_TP	710162	104886873	2156845	966	18905											
AHNAK2	0	.	GRCh38	chr14	104945179	104945179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggactgtcacttccgcCttggggacttttaggtccag	6	12	12	11	1	2	0	2	0	0	0	4	2	4	2	3	4	0	0	3	4	1	4	rs372010769		C3N-00560_TP	C3N-00560_NB	C	C																c.10272G>T	p.Lys3424Asn	p.K3424N	ENST00000333244	7/7	427	215	212	478	476	2	strelka-varscan-mutect	AHNAK2,missense_variant,p.Lys3424Asn,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	A	ENST00000333244	Transcript	missense_variant	10392/18254	10272/17388	3424/5795	K/N	aaG/aaT	rs372010769	1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	deleterious(0.01)		7/7																			MODERATE	1	SNV	5			1										PASS		rs372010769	.												A	3	1	57	104945179	104945179	C	A	1	0	0	0	0	1	0	0	0	492	680	24	2		2	AHNAK2	14	104945179	Missense_Mutation	SNP	C	C3N-00560_TP	58306	104945179	2098539	967	18906											
GOLGA6L2	0	.	GRCh38	chr15	23441106	23441106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcttcccgcatcttctTctcccgctcccgtatcctct	2	15	3	21	3	5	0	0	0	5	0	10	0	9	0	5	0	0	3	5	0	1	4	rs766024699		C3N-00560_TP	C3N-00560_NB	T	T																c.1369A>G	p.Lys457Glu	p.K457E	ENST00000567107	8/8	182	163	19	232	230	2	strelka-varscan-mutect	GOLGA6L2,missense_variant,p.Lys457Glu,ENST00000567107,NM_001304388.1;GOLGA6L2,missense_variant,p.Lys184Glu,ENST00000345070,;GOLGA6L2,intron_variant,,ENST00000312015,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,;	C	ENST00000567107	Transcript	missense_variant	1422/3030	1369/2730	457/909	K/E	Aag/Gag	rs766024699	1		-1	GOLGA6L2	HGNC	HGNC:26695	protein_coding	YES	CCDS76728.1	ENSP00000454407		H3BMJ4	UPI00024672CE	NM_001304388.1	tolerated(0.6)		8/8		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF11,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs766024699	.												C	3	2	57	23441106	23441106	T	C	1	0	0	0	0	1	0	0	0	6440	1792	62	5		5	GOLGA6L2	15	23441106	Missense_Mutation	SNP	T	C3N-00560_TP		23441106	78550083	968	18907											
NPAP1	0	.	GRCh38	chr15	24676257	24676257	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcctgctgccttcaccAcgtgagccggcggtcaaggc	6	8	11	16	3	3	1	2	1	1	0	4	1	3	1	4	3	3	1	4	3	1	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.390A>T	p.=	p.P130P	ENST00000329468	1/1	14	7	7	11	11	0	strelka-varscan-mutect	NPAP1,synonymous_variant,p.=,ENST00000329468,NM_018958.2;	T	ENST00000329468	Transcript	synonymous_variant	390/7526	390/3471	130/1156	P	ccA/ccT		1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2			1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15																	LOW	1	SNV				1										PASS		.	.												T	2	4	57	24676257	24676257	A	T	1	0	0	0	0	0	0	0	1	10609	146	6	4		4	NPAP1	15	24676257	Silent	SNP	A	C3N-00560_TP	1235151	24676257	77314932	969	18908											
GABRB3	0	.	GRCh38	chr15	26772681	26772681	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgcgcgcagcccacttacCcccgaagtcgggtcttaggc	6	6	12	17	5	1	0	0	0	1	0	2	1	1	0	4	2	2	1	4	2	3	2			C3N-00560_TP	C3N-00560_NB	C	C																c.172G>T	p.Gly58Cys	p.G58C	ENST00000311550	2/9	261	141	120	275	275	0	strelka-varscan-mutect	GABRB3,missense_variant,p.Gly114Cys,ENST00000541819,;GABRB3,missense_variant,p.Gly58Cys,ENST00000311550,NM_000814.5;GABRB3,missense_variant,p.Gly58Cys,ENST00000299267,NM_021912.4;GABRB3,missense_variant,p.Gly25Cys,ENST00000638099,;GABRB3,splice_region_variant,,ENST00000622697,NM_001278631.1;GABRB3,upstream_gene_variant,,ENST00000636466,;GABRB3,splice_region_variant,,ENST00000557641,;GABRB3,splice_region_variant,,ENST00000554722,;GABRB3,missense_variant,p.Gly58Cys,ENST00000555632,;GABRB3,missense_variant,p.Gly58Cys,ENST00000554556,;	A	ENST00000311550	Transcript	missense_variant,splice_region_variant	284/5781	172/1422	58/473	G/C	Ggt/Tgt	COSM5339144,COSM5339145,COSM5339146	1		-1	GABRB3	HGNC	HGNC:4083	protein_coding	YES	CCDS10019.1	ENSP00000308725	P28472		UPI000012AFB0	NM_000814.5	deleterious(0)		2/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF571,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	57	26772681	26772681	C	A	1	0	0	0	0	1	0	0	0	6039	637	22	2		2	GABRB3	15	26772681	Missense_Mutation	SNP	C	C3N-00560_TP	2096424	26772681	75218508	970	18909											
OCA2	0	.	GRCh38	chr15	28014815	28014815	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacgcccgcgaggatggcCgtcgcgatggtcacctgggt	6	7	16	12	6	1	1	1	0	0	1	2	4	1	2	3	4	0	0	3	4	1	1	rs763586305		C3N-00560_TP	C3N-00560_NB	C	C																c.1005G>T	p.=	p.T335T	ENST00000354638	9/24	318	171	147	339	339	0	strelka-varscan-mutect	OCA2,synonymous_variant,p.=,ENST00000354638,NM_000275.2;OCA2,synonymous_variant,p.=,ENST00000353809,NM_001300984.1;OCA2,downstream_gene_variant,,ENST00000431101,;OCA2,downstream_gene_variant,,ENST00000445578,;	A	ENST00000354638	Transcript	synonymous_variant	1161/3186	1005/2517	335/838	T	acG/acT	rs763586305,COSM4868598,COSM960084	1		-1	OCA2	HGNC	HGNC:8101	protein_coding	YES	CCDS10020.1	ENSP00000346659	Q04671		UPI000013D158	NM_000275.2			9/24		Transmembrane_helices:TMhelix,hmmpanther:PTHR10283:SF67,hmmpanther:PTHR10283											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs763586305	.												A	2	1	57	28014815	28014815	C	A	1	0	0	0	0	0	0	0	1	10892	639	23	1		1	OCA2	15	28014815	Silent	SNP	C	C3N-00560_TP	1242134	28014815	73976374	971	18910											
HERC2	0	.	GRCh38	chr15	28263069	28263069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggactttgaccacatcCaagtcttgaagcttttcaat	11	12	7	11	1	2	2	1	2	1	0	3	3	3	3	2	1	2	1	2	1	3	4			C3N-00560_TP	C3N-00560_NB	C	C																c.1971G>T	p.Leu657Phe	p.L657F	ENST00000261609	15/93	343	216	127	440	440	0	strelka-varscan-mutect	HERC2,missense_variant,p.Leu657Phe,ENST00000261609,NM_004667.5;HERC2,3_prime_UTR_variant,,ENST00000564734,;	A	ENST00000261609	Transcript	missense_variant	2080/15337	1971/14505	657/4834	L/F	ttG/ttT	COSM4627306,COSM4627307	1		-1	HERC2	HGNC	HGNC:4868	protein_coding	YES	CCDS10021.1	ENSP00000261609	O95714		UPI00004578F7	NM_004667.5	deleterious(0.04)		15/93		Gene3D:2.130.10.30,Pfam_domain:PF00415,PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF325,SMART_domains:SM00706,Superfamily_domains:SSF50985											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	57	28263069	28263069	C	A	1	0	0	0	0	1	0	0	0	6942	593	21	2		2	HERC2	15	28263069	Missense_Mutation	SNP	C	C3N-00560_TP	248254	28263069	73728120	972	18911											
GOLGA8M	0	.	GRCh38	chr15	28706472	28706472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttcagaatactcatctCtttctaattggacttgttga	10	17	7	7	0	4	2	2	1	2	1	5	4	4	3	0	1	1	2	0	1	3	7	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.713G>T	p.Arg238Ile	p.R238I	ENST00000563027	10/19	144	135	9	161	161	0	varscan-mutect	GOLGA8M,missense_variant,p.Arg238Ile,ENST00000563027,NM_001282468.1;RN7SL719P,upstream_gene_variant,,ENST00000620196,;GOLGA8M,downstream_gene_variant,,ENST00000563213,;	A	ENST00000563027	Transcript	missense_variant	713/1899	713/1899	238/632	R/I	aGa/aTa		1		-1	GOLGA8M	HGNC	HGNC:44404	protein_coding	YES	CCDS61572.1	ENSP00000456927	H3BSY2		UPI0001A5E7A0	NM_001282468.1	deleterious(0)		10/19		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15070,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	28706472	28706472	C	A	1	0	0	0	0	1	0	0	0	6454	913	32	2		2	GOLGA8M	15	28706472	Missense_Mutation	SNP	C	C3N-00560_TP	443403	28706472	73284717	973	18912											
TRPM1	0	.	GRCh38	chr15	31026188	31026188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctggacgactgctgctcatCctccttctcccggaagtgct	5	11	10	15	2	2	0	1	0	1	0	5	3	4	2	3	2	3	4	3	2	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3631G>A	p.Asp1211Asn	p.D1211N	ENST00000542188	26/27	416	219	197	486	486	0	strelka-varscan-mutect	TRPM1,missense_variant,p.Asp1211Asn,ENST00000542188,NM_001252020.1;TRPM1,missense_variant,p.Asp1172Asn,ENST00000397795,NM_002420.5;TRPM1,missense_variant,p.Asp1194Asn,ENST00000256552,NM_001252024.1;TRPM1,missense_variant,p.Asp1095Asn,ENST00000558768,;TRPM1,missense_variant,p.Asp1172Asn,ENST00000558445,;TRPM1,missense_variant,p.Asp287Asn,ENST00000559177,;RP11-348B17.1,intron_variant,,ENST00000561299,;RP11-348B17.1,upstream_gene_variant,,ENST00000558755,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;TRPM1,downstream_gene_variant,,ENST00000558212,;TRPM1,downstream_gene_variant,,ENST00000557948,;	T	ENST00000542188	Transcript	missense_variant	3945/6004	3631/4929	1211/1642	D/N	Gat/Aat		1		-1	TRPM1	HGNC	HGNC:7146	protein_coding	YES	CCDS58347.1	ENSP00000437849	Q7Z4N2		UPI0001DBB3A9	NM_001252020.1	deleterious(0.02)		26/27		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	31026188	31026188	C	T	1	0	0	0	0	1	0	0	0	17091	855	30	3		3	TRPM1	15	31026188	Missense_Mutation	SNP	C	C3N-00560_TP	2319716	31026188	70965001	974	18913											
RYR3	0	.	GRCh38	chr15	33660269	33660269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacagtgtccacctcggCtggacgtccaaaccatccag	9	7	8	17	2	0	0	0	0	0	0	5	1	4	1	6	2	1	1	6	2	1	0	rs74005937		C3N-00560_TP	C3N-00560_NB	C	C																c.4468C>A	p.Leu1490Met	p.L1490M	ENST00000634891	34/104	181	105	76	217	217	0	strelka-varscan-mutect	RYR3,missense_variant,p.Leu1490Met,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Leu1490Met,ENST00000622037,;RYR3,missense_variant,p.Leu1490Met,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Leu1490Met,ENST00000389232,;RYR3,missense_variant,p.Leu1490Met,ENST00000634418,;	A	ENST00000634891	Transcript	missense_variant	4569/15591	4468/14613	1490/4870	L/M	Ctg/Atg	rs74005937	1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	deleterious(0)		34/104		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16																	MODERATE	1	SNV	1			1										PASS		rs74005937	.												A	3	1	57	33660269	33660269	C	A	1	0	0	0	0	1	0	0	0	14030	796	28	2		2	RYR3	15	33660269	Missense_Mutation	SNP	C	C3N-00560_TP	2634081	33660269	68330920	975	18914											
RYR3	0	.	GRCh38	chr15	33819791	33819791	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccctttgtacacctcctattCcagcatgatggccaaggtac	9	11	7	14	0	0	1	0	1	0	0	2	1	2	1	5	2	3	3	5	2	4	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.10742C>G	p.Ser3581Cys	p.S3581C	ENST00000634891	77/104	139	94	45	187	187	0	strelka-varscan-mutect	RYR3,missense_variant,p.Ser3581Cys,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Ser3584Cys,ENST00000622037,;RYR3,missense_variant,p.Ser3576Cys,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Ser3580Cys,ENST00000389232,;RYR3,missense_variant,p.Ser3576Cys,ENST00000634418,;RYR3,downstream_gene_variant,,ENST00000638038,;RYR3,3_prime_UTR_variant,,ENST00000635790,;RYR3,upstream_gene_variant,,ENST00000558060,;RYR3,upstream_gene_variant,,ENST00000557931,;	G	ENST00000634891	Transcript	missense_variant	10843/15591	10742/14613	3581/4870	S/C	tCc/tGc		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	deleterious(0)		77/104		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	33819791	33819791	C	G	1	0	0	0	0	1	0	0	0	14030	855	30	4		4	RYR3	15	33819791	Missense_Mutation	SNP	C	C3N-00560_TP	159522	33819791	68171398	976	18915											
RYR3	0	.	GRCh38	chr15	33838374	33838374	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgcgggtgaagaggaaGaagacgggtctcttgagccg	12	7	16	6	3	1	5	0	2	1	3	2	6	1	6	1	3	2	0	1	3	4	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.12394G>T	p.Glu4132Ter	p.E4132*	ENST00000634891	89/104	293	157	136	355	354	1	strelka-varscan-mutect	RYR3,stop_gained,p.Glu4132Ter,ENST00000634891,NM_001036.4;RYR3,stop_gained,p.Glu4135Ter,ENST00000622037,;RYR3,stop_gained,p.Glu4127Ter,ENST00000415757,NM_001243996.2;RYR3,stop_gained,p.Glu4131Ter,ENST00000389232,;RYR3,stop_gained,p.Glu4121Ter,ENST00000634418,;RYR3,upstream_gene_variant,,ENST00000634730,;RYR3,upstream_gene_variant,,ENST00000636568,;RYR3,downstream_gene_variant,,ENST00000635842,;RYR3,downstream_gene_variant,,ENST00000638032,;RYR3,non_coding_transcript_exon_variant,,ENST00000635749,;RYR3,upstream_gene_variant,,ENST00000638052,;RYR3,upstream_gene_variant,,ENST00000636656,;RYR3,upstream_gene_variant,,ENST00000637615,;RYR3,upstream_gene_variant,,ENST00000637984,;RYR3,stop_gained,p.Glu10Ter,ENST00000637948,;RYR3,3_prime_UTR_variant,,ENST00000635790,;RYR3,upstream_gene_variant,,ENST00000636845,;	T	ENST00000634891	Transcript	stop_gained	12495/15591	12394/14613	4132/4870	E/*	Gaa/Taa		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4			89/104																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	33838374	33838374	G	T	1	0	0	0	0	0	1	0	0	14030	943	33	2		2	RYR3	15	33838374	Nonsense_Mutation	SNP	G	C3N-00560_TP	18583	33838374	68152815	977	18916											
DPH6	0	.	GRCh38	chr15	35538330	35538330	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcaccttcacatttggTgtacacttgtcttgtatcca	8	16	5	12	0	4	0	3	0	1	0	5	0	5	0	2	1	1	2	2	1	2	6	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.256A>T	p.Thr86Ser	p.T86S	ENST00000256538	3/9	148	77	71	171	171	0	strelka-varscan-mutect	DPH6,missense_variant,p.Thr86Ser,ENST00000440392,NM_001141972.1;DPH6,missense_variant,p.Thr86Ser,ENST00000256538,NM_080650.3;DPH6,missense_variant,p.Thr38Ser,ENST00000561411,;DPH6,non_coding_transcript_exon_variant,,ENST00000559585,;DPH6,non_coding_transcript_exon_variant,,ENST00000559784,;DPH6,non_coding_transcript_exon_variant,,ENST00000560526,;	A	ENST00000256538	Transcript	missense_variant	283/2099	256/804	86/267	T/S	Acc/Tcc		1		-1	DPH6	HGNC	HGNC:30543	protein_coding	YES	CCDS10043.1	ENSP00000256538	Q7L8W6		UPI000007296C	NM_080650.3	tolerated(0.83)		3/9		Gene3D:3.40.50.620,Pfam_domain:PF01902,PIRSF_domain:PIRSF039123,hmmpanther:PTHR12196,Superfamily_domains:SSF52402,TIGRFAM_domain:TIGR00290																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	35538330	35538330	T	A	1	0	0	0	0	1	0	0	0	4537	1696	59	4		4	DPH6	15	35538330	Missense_Mutation	SNP	T	C3N-00560_TP	1699956	35538330	66452859	978	18917											
SPTBN5	0	.	GRCh38	chr15	41868458	41868458	+	Missense_Mutation	SNP	C	C	A																															cccagctgggtggcctgctgCcacagcttctcccgggcctc																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.5997G>T	p.Trp1999Cys	p.W1999C	ENST00000320955	33/68	90	54	36	115	115	0	strelka-varscan-mutect	SPTBN5,missense_variant,p.Trp1999Cys,ENST00000320955,NM_016642.3;MIR4310,upstream_gene_variant,,ENST00000582950,;	A	ENST00000320955	Transcript	missense_variant	6225/11725	5997/11025	1999/3674	W/C	tgG/tgT		1		-1	SPTBN5	HGNC	HGNC:15680	protein_coding	YES	CCDS61599.1	ENSP00000317790	Q9NRC6		UPI0000E59BE4	NM_016642.3	deleterious(0.02)		33/68		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF265,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	41868458	41868458	C	A	1	0	0	0	0	1	0	0	0	15478	740	26	2		2	SPTBN5	15	41868458	Missense_Mutation	SNP	C	C3N-00560_TP	6330128	41868458	60122731	979	18918	401	2									
SPTBN5	0	.	GRCh38	chr15	41868459	41868459	+	Missense_Mutation	SNP	C	C	A																															ccagctgggtggcctgctgcCacagcttctcccgggcctcc																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.5996G>T	p.Trp1999Leu	p.W1999L	ENST00000320955	33/68	90	53	37	116	115	1	strelka-varscan-mutect	SPTBN5,missense_variant,p.Trp1999Leu,ENST00000320955,NM_016642.3;MIR4310,upstream_gene_variant,,ENST00000582950,;	A	ENST00000320955	Transcript	missense_variant	6224/11725	5996/11025	1999/3674	W/L	tGg/tTg		1		-1	SPTBN5	HGNC	HGNC:15680	protein_coding	YES	CCDS61599.1	ENSP00000317790	Q9NRC6		UPI0000E59BE4	NM_016642.3	tolerated(0.08)		33/68		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF265,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	41868459	41868459	C	A	1	0	0	0	0	1	0	0	0	15478	595	21	2		2	SPTBN5	15	41868459	Missense_Mutation	SNP	C	C3N-00560_TP	1	41868459	60122730	980	18919	401	2									
GANC	0	.	GRCh38	chr15	42351391	42351391	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagaagatcttggtcttagGcttcaggaaggagccatctt	10	11	13	7	0	4	2	1	0	3	2	4	5	4	4	1	5	1	1	1	5	3	4			C3N-00560_TP	C3N-00560_NB	G	G																c.2594G>C	p.Gly865Ala	p.G865A	ENST00000318010	23/24	146	84	62	198	198	0	strelka-varscan-mutect	GANC,missense_variant,p.Gly865Ala,ENST00000318010,NM_198141.2;GANC,missense_variant,p.Gly74Ala,ENST00000566690,;GANC,missense_variant,p.Gly74Ala,ENST00000567596,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000495723,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000466369,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000549793,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000483208,;	C	ENST00000318010	Transcript	missense_variant	2834/7781	2594/2745	865/914	G/A	gGc/gCc	COSM5098369	1		1	GANC	HGNC	HGNC:4139	protein_coding	YES	CCDS10084.1	ENSP00000326227	Q8TET4		UPI00001FE303	NM_198141.2			23/24		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF60											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	57	42351391	42351391	G	C	1	0	0	0	0	1	0	0	0	6102	1203	42	4		4	GANC	15	42351391	Missense_Mutation	SNP	G	C3N-00560_TP	482932	42351391	59639798	981	18920											
STRC	0	.	GRCh38	chr15	43604766	43604766	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtagggggatctgtcgTgtgctctctgtccccaggaa	6	12	13	10	1	3	0	0	0	3	0	6	2	4	2	2	3	1	2	2	3	2	1	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.4011A>T	p.=	p.T1337T	ENST00000450892	20/29	786	523	263	597	596	1	strelka-varscan-mutect	STRC,synonymous_variant,p.=,ENST00000450892,NM_153700.2;STRC,synonymous_variant,p.=,ENST00000541030,;RNU6-554P,downstream_gene_variant,,ENST00000410466,;CKMT1B,intron_variant,,ENST00000411560,;STRC,3_prime_UTR_variant,,ENST00000428650,;STRC,3_prime_UTR_variant,,ENST00000440125,;STRC,3_prime_UTR_variant,,ENST00000455136,;STRC,non_coding_transcript_exon_variant,,ENST00000485556,;STRC,non_coding_transcript_exon_variant,,ENST00000471703,;STRC,intron_variant,,ENST00000448437,;STRC,upstream_gene_variant,,ENST00000460952,;STRC,upstream_gene_variant,,ENST00000493750,;	A	ENST00000450892	Transcript	synonymous_variant	4089/5680	4011/5328	1337/1775	T	acA/acT		1		-1	STRC	HGNC	HGNC:16035	protein_coding	YES	CCDS10098.1	ENSP00000401513	Q7RTU9		UPI000013E60F	NM_153700.2			20/29		hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF14																	LOW	1	SNV	5			1										PASS		rs1231379897	.												A	2	1	57	43604766	43604766	T	A	1	0	0	0	0	0	0	0	1	15709	1683	59	4		4	STRC	15	43604766	Silent	SNP	T	C3N-00560_TP	1253375	43604766	58386423	982	18921											
SPG11	0	.	GRCh38	chr15	44659297	44659297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggattctcaaagacaataagGaaatacctacaaaacaaaag	22	6	6	7	0	1	1	1	0	1	1	2	3	1	3	1	2	3	0	1	2	10	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.449C>T	p.Ser150Phe	p.S150F	ENST00000261866	3/40	181	129	52	147	147	0	strelka-varscan-mutect	SPG11,missense_variant,p.Ser150Phe,ENST00000261866,NM_025137.3;SPG11,missense_variant,p.Ser150Phe,ENST00000535302,NM_001160227.1;SPG11,missense_variant,p.Ser150Phe,ENST00000427534,;SPG11,missense_variant,p.Ser150Phe,ENST00000558319,;SPG11,missense_variant,p.Ser150Phe,ENST00000559193,;	A	ENST00000261866	Transcript	missense_variant	466/7774	449/7332	150/2443	S/F	tCc/tTc		1		-1	SPG11	HGNC	HGNC:11226	protein_coding	YES	CCDS10112.1	ENSP00000261866	Q96JI7		UPI0000456840	NM_025137.3	deleterious(0)		3/40		Low_complexity_(Seg):seg,hmmpanther:PTHR13650,hmmpanther:PTHR13650:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	44659297	44659297	G	A	1	0	0	0	0	1	0	0	0	15392	1174	41	3		3	SPG11	15	44659297	Missense_Mutation	SNP	G	C3N-00560_TP	1054531	44659297	57331892	983	18922											
PATL2	0	.	GRCh38	chr15	44667145	44667145	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttcctctagggaagaaTgcagcgataccagttgctcc	9	10	12	10	1	1	1	0	0	1	1	3	3	3	2	3	2	4	4	3	2	4	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1424A>T	p.His475Leu	p.H475L	ENST00000434130	14/16	252	192	60	212	212	0	strelka-varscan-mutect	PATL2,missense_variant,p.His475Leu,ENST00000434130,NM_001145112.1;PATL2,missense_variant,p.His475Leu,ENST00000560775,;PATL2,missense_variant,p.His286Leu,ENST00000560780,;PATL2,intron_variant,,ENST00000558809,;SPG11,upstream_gene_variant,,ENST00000261866,NM_025137.3;SPG11,upstream_gene_variant,,ENST00000535302,NM_001160227.1;SPG11,upstream_gene_variant,,ENST00000427534,;SPG11,upstream_gene_variant,,ENST00000558319,;SPG11,upstream_gene_variant,,ENST00000559193,;PATL2,downstream_gene_variant,,ENST00000560110,;PATL2,non_coding_transcript_exon_variant,,ENST00000561082,;PATL2,upstream_gene_variant,,ENST00000558159,;PATL2,downstream_gene_variant,,ENST00000558481,;	A	ENST00000434130	Transcript	missense_variant	1522/1950	1424/1632	475/543	H/L	cAt/cTt		1		-1	PATL2	HGNC	HGNC:33630	protein_coding	YES	CCDS45253.1	ENSP00000416673	C9JE40		UPI00006C1508	NM_001145112.1	deleterious(0)		14/16		hmmpanther:PTHR21551,hmmpanther:PTHR21551:SF3																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	57	44667145	44667145	T	A	1	0	0	0	0	1	0	0	0	11560	1464	51	4		4	PATL2	15	44667145	Missense_Mutation	SNP	T	C3N-00560_TP	7848	44667145	57324044	984	18923											
PATL2	0	.	GRCh38	chr15	44673322	44673322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaaagtgctgtgctggaGagctggtgctgggaaatgta	9	10	16	6	0	0	1	0	0	0	1	1	3	1	2	1	3	4	5	1	3	3	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.359C>A	p.Ser120Tyr	p.S120Y	ENST00000434130	5/16	380	261	119	252	252	0	strelka-varscan-mutect	PATL2,missense_variant,p.Ser120Tyr,ENST00000434130,NM_001145112.1;PATL2,missense_variant,p.Ser120Tyr,ENST00000560775,;PATL2,missense_variant,p.Ser33Tyr,ENST00000560110,;PATL2,5_prime_UTR_variant,,ENST00000560780,;PATL2,upstream_gene_variant,,ENST00000558809,;PATL2,downstream_gene_variant,,ENST00000558573,;PATL2,missense_variant,p.Ser91Tyr,ENST00000558481,;	T	ENST00000434130	Transcript	missense_variant	457/1950	359/1632	120/543	S/Y	tCt/tAt		1		-1	PATL2	HGNC	HGNC:33630	protein_coding	YES	CCDS45253.1	ENSP00000416673	C9JE40		UPI00006C1508	NM_001145112.1	deleterious(0.05)		5/16		Low_complexity_(Seg):seg,hmmpanther:PTHR21551,hmmpanther:PTHR21551:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	44673322	44673322	G	T	1	0	0	0	0	1	0	0	0	11560	942	33	2		2	PATL2	15	44673322	Missense_Mutation	SNP	G	C3N-00560_TP	6177	44673322	57317867	985	18924											
DUOX2	0	.	GRCh38	chr15	45109960	45109960	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccttgttcaggaccttcCggaaatgacagctggcattt	10	11	9	11	1	1	1	1	1	0	0	2	3	2	3	3	3	2	3	3	3	2	4	rs370954970		C3N-00560_TP	C3N-00560_NB	C	C																c.1061G>T	p.Arg354Leu	p.R354L	ENST00000603300	10/34	627	448	179	486	486	0	strelka-varscan-mutect	DUOX2,missense_variant,p.Arg354Leu,ENST00000389039,;DUOX2,missense_variant,p.Arg354Leu,ENST00000603300,NM_014080.4;DUOXA2,upstream_gene_variant,,ENST00000323030,NM_207581.3;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;DUOXA2,upstream_gene_variant,,ENST00000491993,;DUOXA2,upstream_gene_variant,,ENST00000350243,;	A	ENST00000603300	Transcript	missense_variant	1264/6345	1061/4647	354/1548	R/L	cGg/cTg	rs370954970	1		-1	DUOX2	HGNC	HGNC:13273	protein_coding	YES	CCDS10117.1	ENSP00000475084	Q9NRD8		UPI000013D775	NM_014080.4	deleterious(0.04)		10/34		Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,Superfamily_domains:SSF48113																	MODERATE	1	SNV	1			1										PASS		rs370954970	.												A	3	1	57	45109960	45109960	C	A	1	0	0	0	0	1	0	0	0	4623	652	23	1		1	DUOX2	15	45109960	Missense_Mutation	SNP	C	C3N-00560_TP	436638	45109960	56881229	986	18925											
BCL2L10	0	.	GRCh38	chr15	52109973	52109973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaagaagtgacaaaagccatCctacaggggggagagagaaa	18	3	14	6	0	0	4	0	1	0	3	1	7	1	4	2	3	2	0	2	3	6	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.560G>C	p.Gly187Ala	p.G187A	ENST00000561198	2/2	94	68	26	73	73	0	strelka-varscan-mutect	BCL2L10,missense_variant,p.Asp164His,ENST00000260442,NM_020396.2;BCL2L10,missense_variant,p.Gly187Ala,ENST00000561198,NM_001306168.1;	G	ENST00000561198	Transcript	missense_variant,splice_region_variant	602/825	560/726	187/241	G/A	gGa/gCa		1		-1	BCL2L10	HGNC	HGNC:993	protein_coding	YES	CCDS76756.1	ENSP00000453562		H0YMD5	UPI00022F852C	NM_001306168.1			2/2																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	52109973	52109973	C	G	1	0	0	0	0	1	0	0	0	1515	869	30	4		4	BCL2L10	15	52109973	Missense_Mutation	SNP	C	C3N-00560_TP	7000013	52109973	49881216	987	18926											
MYO5C	0	.	GRCh38	chr15	52211807	52211807	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcattcagagagtctgCgtagcgcacacacatgaaca	13	7	10	11	2	3	2	2	1	1	1	3	3	3	2	0	1	3	3	0	1	2	2	rs754670620		C3N-00560_TP	C3N-00560_NB	C	C																c.4219G>C	p.Ala1407Pro	p.A1407P	ENST00000261839	35/41	174	122	52	146	146	0	strelka-varscan-mutect	MYO5C,missense_variant,p.Ala1407Pro,ENST00000261839,NM_018728.3;MYO5C,3_prime_UTR_variant,,ENST00000560809,;MYO5C,non_coding_transcript_exon_variant,,ENST00000559696,;	G	ENST00000261839	Transcript	missense_variant	4381/6971	4219/5229	1407/1742	A/P	Gca/Cca	rs754670620	1		-1	MYO5C	HGNC	HGNC:7604	protein_coding	YES	CCDS42036.1	ENSP00000261839	Q9NQX4		UPI000013D20E	NM_018728.3	deleterious(0)		35/41		hmmpanther:PTHR13140:SF313,hmmpanther:PTHR13140																	MODERATE	1	SNV	1			1										PASS		rs754670620	.												G	3	3	57	52211807	52211807	C	G	1	0	0	0	0	1	0	0	0	10081	768	27	4		4	MYO5C	15	52211807	Missense_Mutation	SNP	C	C3N-00560_TP	101834	52211807	49779382	988	18927											
ONECUT1	0	.	GRCh38	chr15	52789189	52789189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgaggtgggcgtgaggtgCtgctccccgtggcggccgag	3	6	20	12	5	0	1	0	1	0	0	1	3	1	1	4	5	2	2	4	5	0	0	rs529209684		C3N-00560_TP	C3N-00560_NB	C	C																c.696G>T	p.Gln232His	p.Q232H	ENST00000305901	1/2	43	30	13	44	44	0	strelka-varscan-mutect	ONECUT1,missense_variant,p.Gln232His,ENST00000305901,NM_004498.2;ONECUT1,intron_variant,,ENST00000561401,;ONECUT1,missense_variant,p.Gln70His,ENST00000570208,;	A	ENST00000305901	Transcript	missense_variant	824/2092	696/1398	232/465	Q/H	caG/caT	rs529209684	1		-1	ONECUT1	HGNC	HGNC:8138	protein_coding	YES	CCDS10150.1	ENSP00000302630	Q9UBC0		UPI000012CA91	NM_004498.2	deleterious(0.04)		1/2		hmmpanther:PTHR14057:SF9,hmmpanther:PTHR14057																	MODERATE	1	SNV	1			1										PASS		rs529209684	.												A	3	1	57	52789189	52789189	C	A	1	0	0	0	0	1	0	0	0	10943	796	28	2		2	ONECUT1	15	52789189	Missense_Mutation	SNP	C	C3N-00560_TP	577382	52789189	49202000	989	18928											
VPS13C	0	.	GRCh38	chr15	61856375	61856375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtctacacacataaggcCcaggatttcaacttccttta	12	11	5	13	0	2	0	1	0	1	0	3	1	3	1	3	2	2	0	3	2	4	6	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.10987G>T	p.Gly3663Cys	p.G3663C	ENST00000261517	83/85	218	148	70	258	257	1	strelka-varscan-mutect	VPS13C,missense_variant,p.Gly3663Cys,ENST00000261517,NM_020821.2;VPS13C,missense_variant,p.Gly3620Cys,ENST00000249837,NM_017684.4;RP11-16B9.1,downstream_gene_variant,,ENST00000559251,;VPS13C,non_coding_transcript_exon_variant,,ENST00000560637,;VPS13C,non_coding_transcript_exon_variant,,ENST00000559119,;	A	ENST00000261517	Transcript	missense_variant	11061/13400	10987/11262	3663/3753	G/C	Ggc/Tgc		1		-1	VPS13C	HGNC	HGNC:23594	protein_coding	YES	CCDS32257.1	ENSP00000261517	Q709C8		UPI000023B7D3	NM_020821.2	deleterious(0.01)		83/85		hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF69																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	61856375	61856375	C	A	1	0	0	0	0	1	0	0	0	17738	623	22	2		2	VPS13C	15	61856375	Missense_Mutation	SNP	C	C3N-00560_TP	9067186	61856375	40134814	990	18929											
HERC1	0	.	GRCh38	chr15	63661813	63661813	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtacttctccctgcaggtgCcacataacaggtagtacgga	11	9	10	11	1	1	0	0	0	1	0	2	1	1	1	2	3	5	4	2	3	4	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.9110G>T	p.Gly3037Val	p.G3037V	ENST00000443617	45/78	300	215	85	253	253	0	strelka-varscan-mutect	HERC1,missense_variant,p.Gly3037Val,ENST00000443617,NM_003922.3;	A	ENST00000443617	Transcript	missense_variant	9198/15137	9110/14586	3037/4861	G/V	gGc/gTc		1		-1	HERC1	HGNC	HGNC:4867	protein_coding	YES	CCDS45277.1	ENSP00000390158	Q15751	A0A024R5W0	UPI0000212760	NM_003922.3	tolerated(0.43)		45/78																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	63661813	63661813	C	A	1	0	0	0	0	1	0	0	0	6941	739	26	2		2	HERC1	15	63661813	Missense_Mutation	SNP	C	C3N-00560_TP	1805438	63661813	38329376	991	18930											
RASL12	0	.	GRCh38	chr15	65054991	65054991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggtgaccagcttggcctGggccacagtgggcatctcct	6	8	13	14	1	1	1	0	1	1	0	2	1	1	1	4	4	1	2	4	4	0	1	rs765723325		C3N-00560_TP	C3N-00560_NB	G	G																c.709C>A	p.Gln237Lys	p.Q237K	ENST00000220062	5/5	309	210	99	199	199	0	strelka-varscan-mutect	RASL12,missense_variant,p.Gln237Lys,ENST00000220062,NM_016563.2;RASL12,missense_variant,p.Gln218Lys,ENST00000421977,NM_001307930.1;RASL12,missense_variant,p.Gln226Lys,ENST00000434605,;SLC51B,downstream_gene_variant,,ENST00000334287,NM_178859.3;	T	ENST00000220062	Transcript	missense_variant	986/2640	709/801	237/266	Q/K	Cag/Aag	rs765723325	1		-1	RASL12	HGNC	HGNC:30289	protein_coding	YES	CCDS10200.1	ENSP00000220062	Q9NYN1	A0A024R5Y3	UPI000006F3CC	NM_016563.2	deleterious(0.04)		5/5		PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF252																	MODERATE	1	SNV	1			1										PASS		rs765723325	.												T	3	4	57	65054991	65054991	G	T	1	0	0	0	0	1	0	0	0	13244	1357	47	2		2	RASL12	15	65054991	Missense_Mutation	SNP	G	C3N-00560_TP	1393178	65054991	36936198	992	18931											
IGDCC4	0	.	GRCh38	chr15	65388865	65388865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtggttgctgctgtacaGgatcagatactccacgatct	8	12	11	10	2	2	1	1	0	1	1	3	3	3	2	1	2	4	4	1	2	2	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2650C>A	p.Leu884Met	p.L884M	ENST00000352385	15/20	282	188	94	226	224	2	strelka-varscan-mutect	IGDCC4,missense_variant,p.Leu884Met,ENST00000352385,NM_020962.2;IGDCC4,upstream_gene_variant,,ENST00000558048,;IGDCC4,non_coding_transcript_exon_variant,,ENST00000559327,;IGDCC4,upstream_gene_variant,,ENST00000560319,;IGDCC4,upstream_gene_variant,,ENST00000561309,;	T	ENST00000352385	Transcript	missense_variant	2860/6508	2650/3753	884/1250	L/M	Ctg/Atg		1		-1	IGDCC4	HGNC	HGNC:13770	protein_coding	YES	CCDS10206.1	ENSP00000319623	Q8TDY8		UPI000006F31C	NM_020962.2	deleterious(0.03)		15/20		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF40,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	65388865	65388865	G	T	1	0	0	0	0	1	0	0	0	7475	991	35	2		2	IGDCC4	15	65388865	Missense_Mutation	SNP	G	C3N-00560_TP	333874	65388865	36602324	993	18932											
DENND4A	0	.	GRCh38	chr15	65741770	65741770	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattttttataacacaagtaTactgctgatccccactggat	12	14	6	9	0	0	1	0	1	0	0	1	3	1	2	2	1	3	2	2	1	5	6	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.576A>G	p.=	p.V192V	ENST00000443035	5/33	182	124	58	190	190	0	strelka-varscan-mutect	DENND4A,synonymous_variant,p.=,ENST00000443035,NM_001320835.1,NM_001144823.1;DENND4A,synonymous_variant,p.=,ENST00000635620,;DENND4A,synonymous_variant,p.=,ENST00000431932,NM_005848.3;DENND4A,synonymous_variant,p.=,ENST00000564674,;RAB11A,intron_variant,,ENST00000569304,;DENND4A,non_coding_transcript_exon_variant,,ENST00000568515,;	C	ENST00000443035	Transcript	synonymous_variant	792/8665	576/5721	192/1906	V	gtA/gtG		1		-1	DENND4A	HGNC	HGNC:24321	protein_coding	YES	CCDS53949.1	ENSP00000391167	Q7Z401		UPI000013EDF7	NM_001320835.1,NM_001144823.1			5/33		PROSITE_profiles:PS51498,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF16,SMART_domains:SM00800																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	57	65741770	65741770	T	C	1	0	0	0	0	0	0	0	1	4237	1393	49	5		5	DENND4A	15	65741770	Silent	SNP	T	C3N-00560_TP	352905	65741770	36249419	994	18933											
DENND4A	0	.	GRCh38	chr15	65752501	65752501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcatgttttcagaggCtcttcggtaagtgatataaa	11	14	10	6	1	3	3	2	2	1	1	4	3	3	3	0	2	0	3	0	2	4	6	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.439G>A	p.Ala147Thr	p.A147T	ENST00000443035	4/33	356	268	88	281	281	0	strelka-varscan-mutect	DENND4A,missense_variant,p.Ala147Thr,ENST00000443035,NM_001320835.1,NM_001144823.1;DENND4A,missense_variant,p.Ala147Thr,ENST00000635620,;DENND4A,missense_variant,p.Ala147Thr,ENST00000431932,NM_005848.3;DENND4A,missense_variant,p.Ala147Thr,ENST00000564674,;RAB11A,intron_variant,,ENST00000569304,;DENND4A,non_coding_transcript_exon_variant,,ENST00000568515,;	T	ENST00000443035	Transcript	missense_variant	655/8665	439/5721	147/1906	A/T	Gcc/Acc		1		-1	DENND4A	HGNC	HGNC:24321	protein_coding	YES	CCDS53949.1	ENSP00000391167	Q7Z401		UPI000013EDF7	NM_001320835.1,NM_001144823.1	deleterious(0)		4/33		PROSITE_profiles:PS51498,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	65752501	65752501	C	T	1	0	0	0	0	1	0	0	0	4237	797	28	3		3	DENND4A	15	65752501	Missense_Mutation	SNP	C	C3N-00560_TP	10731	65752501	36238688	995	18934											
TMEM202	0	.	GRCh38	chr15	72406668	72406668	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catacttactggccttggctGgctcttcagctcttggatcc	5	14	9	13	0	3	0	1	0	2	0	4	1	4	1	2	4	3	3	2	4	2	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.404G>A	p.Trp135Ter	p.W135*	ENST00000341689	3/5	266	201	65	201	201	0	strelka-varscan-mutect	TMEM202,stop_gained,p.Trp135Ter,ENST00000341689,NM_001080462.1;TMEM202,missense_variant,p.Gly50Ser,ENST00000567679,;RP11-1007O24.3,downstream_gene_variant,,ENST00000562573,;TMEM202,missense_variant,p.Gly50Ser,ENST00000568167,;	A	ENST00000341689	Transcript	stop_gained	458/1012	404/822	135/273	W/*	tGg/tAg		1		1	TMEM202	HGNC	HGNC:33733	protein_coding	YES	CCDS32287.1	ENSP00000340212	A6NGA9		UPI000049DDE8	NM_001080462.1			3/5		Transmembrane_helices:TMhelix,hmmpanther:PTHR10671:SF42,hmmpanther:PTHR10671																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	57	72406668	72406668	G	A	1	0	0	0	0	0	1	0	0	16566	1357	47	3		3	TMEM202	15	72406668	Nonsense_Mutation	SNP	G	C3N-00560_TP	6654167	72406668	29584521	996	18935											
CSK	0	.	GRCh38	chr15	74801057	74801057	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctgggcgtgatcgtGgaggagaagggcgggctcta	7	7	18	9	3	1	2	0	1	1	1	3	4	2	3	1	5	1	2	1	5	2	1	rs753705973		C3N-00560_TP	C3N-00560_NB	G	G																c.768G>C	p.=	p.V256V	ENST00000220003	9/13	499	376	123	297	297	0	strelka-varscan-mutect	CSK,synonymous_variant,p.=,ENST00000220003,NM_004383.2;CSK,synonymous_variant,p.=,ENST00000567571,;CSK,synonymous_variant,p.=,ENST00000439220,NM_001127190.1;CSK,downstream_gene_variant,,ENST00000569915,;CSK,downstream_gene_variant,,ENST00000567123,;CSK,downstream_gene_variant,,ENST00000569462,;CSK,non_coding_transcript_exon_variant,,ENST00000568329,;CSK,non_coding_transcript_exon_variant,,ENST00000564216,;CSK,non_coding_transcript_exon_variant,,ENST00000567135,;CSK,non_coding_transcript_exon_variant,,ENST00000569321,;CSK,non_coding_transcript_exon_variant,,ENST00000566464,;CSK,downstream_gene_variant,,ENST00000563894,;CSK,upstream_gene_variant,,ENST00000563010,;CSK,downstream_gene_variant,,ENST00000562066,;	C	ENST00000220003	Transcript	synonymous_variant	1497/2767	768/1353	256/450	V	gtG/gtC	rs753705973	1		1	CSK	HGNC	HGNC:2444	protein_coding	YES	CCDS10269.1	ENSP00000220003	P41240	B2R6Q4	UPI0000128541	NM_004383.2			9/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF52,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		rs753705973	.												C	2	2	57	74801057	74801057	G	C	1	0	0	0	0	0	0	0	1	3744	1335	47	4		4	CSK	15	74801057	Silent	SNP	G	C3N-00560_TP	2394389	74801057	27190132	997	18936											
SIN3A	0	.	GRCh38	chr15	75380724	75380724	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgtagtctgaccagcgCtaagatggcaaacacaaaat	15	7	8	11	2	1	2	0	1	1	1	2	2	2	2	2	1	2	3	2	1	5	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3289-1G>T		p.X1097_splice	ENST00000394947		237	155	82	169	169	0	strelka-varscan-mutect	SIN3A,splice_acceptor_variant,,ENST00000394947,NM_001145358.1;SIN3A,splice_acceptor_variant,,ENST00000360439,NM_001145357.1;SIN3A,splice_acceptor_variant,,ENST00000394949,NM_015477.2;SIN3A,non_coding_transcript_exon_variant,,ENST00000570124,;SIN3A,upstream_gene_variant,,ENST00000566640,;SIN3A,downstream_gene_variant,,ENST00000570021,;	A	ENST00000394947	Transcript	splice_acceptor_variant	-/6737	3289/3822	1097/1273				1		-1	SIN3A	HGNC	HGNC:19353	protein_coding	YES	CCDS10279.1	ENSP00000378402	Q96ST3		UPI000013EAD4	NM_001145358.1				18/20																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	57	75380724	75380724	C	A	1	0	0	0	0	0	0	1	0	14589	811	28	2		2	SIN3A	15	75380724	Splice_Site	SNP	C	C3N-00560_TP	579667	75380724	26610465	998	18937											
CSPG4	0	.	GRCh38	chr15	75676340	75676340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggtggggtccaggcgcaggGtggcaccctggggccatggc	4	5	20	12	2	0	0	0	0	0	0	1	0	1	0	3	9	0	2	3	9	0	0	rs572735955		C3N-00560_TP	C3N-00560_NB	G	G																c.6179C>A	p.Thr2060Asn	p.T2060N	ENST00000308508	10/10	184	110	74	133	133	0	strelka-varscan-mutect	CSPG4,missense_variant,p.Thr2060Asn,ENST00000308508,NM_001897.4;CTD-2026K11.1,non_coding_transcript_exon_variant,,ENST00000569467,;CTD-2026K11.6,upstream_gene_variant,,ENST00000435356,;	T	ENST00000308508	Transcript	missense_variant	6272/8290	6179/6969	2060/2322	T/N	aCc/aAc	rs572735955	1		-1	CSPG4	HGNC	HGNC:2466	protein_coding	YES	CCDS10284.1	ENSP00000312506	Q6UVK1		UPI00001AEEB6	NM_001897.4	deleterious(0)		10/10		hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF16																	MODERATE	1	SNV	1			1										PASS		rs572735955	.												T	3	4	57	75676340	75676340	G	T	1	0	0	0	0	1	0	0	0	3761	1261	44	2		2	CSPG4	15	75676340	Missense_Mutation	SNP	G	C3N-00560_TP	295616	75676340	26314849	999	18938											
SCAPER	0	.	GRCh38	chr15	76753835	76753835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcttcttgtgcttttttCacaattgcttgtaactgcac	6	20	5	10	0	4	0	1	0	3	0	4	0	4	0	0	0	4	4	0	0	2	9	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1839G>A	p.=	p.V613V	ENST00000563290	15/32	112	68	44	106	106	0	strelka-varscan-mutect	SCAPER,synonymous_variant,p.=,ENST00000563290,;SCAPER,synonymous_variant,p.=,ENST00000538941,NM_001145923.1;SCAPER,synonymous_variant,p.=,ENST00000324767,NM_020843.2;SCAPER,synonymous_variant,p.=,ENST00000564590,;SCAPER,synonymous_variant,p.=,ENST00000565970,;SCAPER,3_prime_UTR_variant,,ENST00000565507,;SCAPER,non_coding_transcript_exon_variant,,ENST00000303521,;	T	ENST00000563290	Transcript	synonymous_variant	1935/5028	1839/4203	613/1400	V	gtG/gtA		1		-1	SCAPER	HGNC	HGNC:13081	protein_coding	YES	CCDS53962.1	ENSP00000454973	Q9BY12		UPI0000E59CC3				15/32		hmmpanther:PTHR31434:SF2,hmmpanther:PTHR31434																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	57	76753835	76753835	C	T	1	0	0	0	0	0	0	0	1	14144	813	29	3		3	SCAPER	15	76753835	Silent	SNP	C	C3N-00560_TP	1077495	76753835	25237354	1000	18939											
HYKK	0	.	GRCh38	chr15	78513109	78513109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtcaagtggaaactatcaGcagtcagaggctcttagcaa	14	9	10	8	0	4	1	3	0	1	1	4	2	4	2	0	2	3	3	0	2	5	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.21G>T	p.Gln7His	p.Q7H	ENST00000569878	1/4	151	102	49	131	131	0	strelka-varscan-mutect	HYKK,missense_variant,p.Gln7His,ENST00000569878,;HYKK,missense_variant,p.Gln7His,ENST00000566332,;HYKK,missense_variant,p.Gln7His,ENST00000388988,NM_001013619.2;HYKK,missense_variant,p.Gln7His,ENST00000408962,NM_001083612.1;HYKK,missense_variant,p.Gln7His,ENST00000563233,;HYKK,missense_variant,p.Gln7His,ENST00000566289,;	T	ENST00000569878	Transcript	missense_variant	21/4097	21/1122	7/373	Q/H	caG/caT		1		1	HYKK	HGNC	HGNC:34403	protein_coding	YES	CCDS42063.1	ENSP00000455459	A2RU49		UPI0000366A7F		tolerated_low_confidence(0.46)		1/4		hmmpanther:PTHR21064,hmmpanther:PTHR21064:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	78513109	78513109	G	T	1	0	0	0	0	1	0	0	0	7365	962	34	2		2	HYKK	15	78513109	Missense_Mutation	SNP	G	C3N-00560_TP	1759274	78513109	23478080	1001	18940											
ADAMTS7	0	.	GRCh38	chr15	78774295	78774295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccggcagtgcagctcgcaggGgttcactgagggcccaagta	8	6	15	12	2	1	1	1	1	0	0	2	1	1	1	2	4	2	6	2	4	2	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1882C>G	p.Pro628Ala	p.P628A	ENST00000388820	13/24	147	108	39	100	100	0	strelka-varscan-mutect	ADAMTS7,missense_variant,p.Pro628Ala,ENST00000388820,NM_014272.3;ADAMTS7,intron_variant,,ENST00000566303,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000565793,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000568712,;	C	ENST00000388820	Transcript	missense_variant	2093/5490	1882/5061	628/1686	P/A	Ccc/Gcc		1		-1	ADAMTS7	HGNC	HGNC:223	protein_coding	YES	CCDS32303.1	ENSP00000373472	Q9UKP4		UPI00002263B3	NM_014272.3	deleterious(0)		13/24		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142																	MODERATE	1	SNV	1			1										PASS		rs1225249427	.												C	3	2	57	78774295	78774295	G	C	1	0	0	0	0	1	0	0	0	315	1246	43	4		4	ADAMTS7	15	78774295	Missense_Mutation	SNP	G	C3N-00560_TP	261186	78774295	23216894	1002	18941											
GOLGA6L10	0	.	GRCh38	chr15	82347513	82347513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccgccgagactcacatcCccaggtgagtggtaaccacc	9	5	11	16	2	1	2	1	1	0	1	2	3	2	2	6	3	1	1	6	3	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.201G>A	p.=	p.G67G	ENST00000610657	2/9	972	843	129	1051	1051	0	varscan-mutect	GOLGA6L10,synonymous_variant,p.=,ENST00000619556,;GOLGA6L10,synonymous_variant,p.=,ENST00000621197,;GOLGA6L10,synonymous_variant,p.=,ENST00000610657,NM_001164465.3;GOLGA6L10,non_coding_transcript_exon_variant,,ENST00000558035,;	T	ENST00000610657	Transcript	synonymous_variant	301/1705	201/1569	67/522	G	ggG/ggA		1		-1	GOLGA6L10	HGNC	HGNC:37228	protein_coding	YES	CCDS45325.2	ENSP00000479362	A6NI86		UPI0003EAF95A	NM_001164465.3			2/9		hmmpanther:PTHR23143:SF12,hmmpanther:PTHR23143																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	57	82347513	82347513	C	T	1	0	0	0	0	0	0	0	1	6439	637	22	3		3	GOLGA6L10	15	82347513	Silent	SNP	C	C3N-00560_TP	3573218	82347513	19643676	1003	18942											
RPS17	0	.	GRCh38	chr15	82538967	82538967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctctctgaattcgcttCatcagatgcgtgacataact	9	12	9	11	2	3	3	2	2	1	1	5	3	3	3	1	1	2	1	1	1	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.174G>T	p.Met58Ile	p.M58I	ENST00000330244	3/5	432	262	170	503	502	1	strelka-varscan-mutect	RPS17,missense_variant,p.Met58Ile,ENST00000561157,;RPS17,missense_variant,p.Met58Ile,ENST00000330244,NM_001021.4;CPEB1,downstream_gene_variant,,ENST00000614918,;CPEB1,downstream_gene_variant,,ENST00000611031,;CPEB1,downstream_gene_variant,,ENST00000617958,;CPEB1,downstream_gene_variant,,ENST00000618449,NM_001079533.1;RP11-152F13.10,downstream_gene_variant,,ENST00000562833,;RP11-379H8.1,upstream_gene_variant,,ENST00000621893,;RPS17,missense_variant,p.Met58Ile,ENST00000558397,;RPS17,3_prime_UTR_variant,,ENST00000561068,;RPS17,non_coding_transcript_exon_variant,,ENST00000561440,;RPS17,non_coding_transcript_exon_variant,,ENST00000560612,;RPS17,non_coding_transcript_exon_variant,,ENST00000560639,;RPS17,non_coding_transcript_exon_variant,,ENST00000560229,;RPS17,non_coding_transcript_exon_variant,,ENST00000559776,;CPEB1,downstream_gene_variant,,ENST00000618698,;RPS17,downstream_gene_variant,,ENST00000559273,;DNM1P38,upstream_gene_variant,,ENST00000560794,;	A	ENST00000330244	Transcript	missense_variant	310/592	174/408	58/135	M/I	atG/atT		1		-1	RPS17	HGNC	HGNC:10397	protein_coding	YES	CCDS10320.1	ENSP00000346046	P08708		UPI0000167B0C	NM_001021.4	deleterious(0.04)		3/5		HAMAP:MF_00511,hmmpanther:PTHR10732,Gene3D:1rq6A00,Pfam_domain:PF00833,Superfamily_domains:0049231																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	82538967	82538967	C	A	1	0	0	0	0	1	0	0	0	13882	826	29	2		2	RPS17	15	82538967	Missense_Mutation	SNP	C	C3N-00560_TP	191454	82538967	19452222	1004	18943											
BNC1	0	.	GRCh38	chr15	83264571	83264571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaaggggtgtatactgctgGggtttcctttgtccacagga	8	12	13	8	0	0	0	0	0	0	0	2	1	2	1	2	5	2	3	2	5	3	4			C3N-00560_TP	C3N-00560_NB	G	G																c.680C>A	p.Pro227His	p.P227H	ENST00000345382	4/5	165	90	75	198	198	0	strelka-varscan-mutect	BNC1,missense_variant,p.Pro227His,ENST00000345382,NM_001717.3;BNC1,missense_variant,p.Pro220His,ENST00000569704,NM_001301206.1;RP11-382A20.4,intron_variant,,ENST00000565495,;	T	ENST00000345382	Transcript	missense_variant	766/4610	680/2985	227/994	P/H	cCc/cAc	COSM5328333	1		-1	BNC1	HGNC	HGNC:1081	protein_coding	YES	CCDS10324.1	ENSP00000307041	Q01954		UPI0000126796	NM_001717.3	deleterious(0)		4/5		hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	57	83264571	83264571	G	T	1	0	0	0	0	1	0	0	0	1630	1232	43	2		2	BNC1	15	83264571	Missense_Mutation	SNP	G	C3N-00560_TP	725604	83264571	18726618	1005	18944											
ACAN	0	.	GRCh38	chr15	88841860	88841860	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtactgcttcgccgaggaGatggagggtgagctgccctg	6	9	17	9	2	0	2	0	1	0	1	1	5	0	3	2	3	4	3	2	3	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.750G>A	p.=	p.E250E	ENST00000439576	5/18	118	59	59	112	112	0	strelka-varscan-mutect	ACAN,synonymous_variant,p.=,ENST00000439576,NM_013227.3;ACAN,synonymous_variant,p.=,ENST00000617301,;ACAN,synonymous_variant,p.=,ENST00000559004,;ACAN,synonymous_variant,p.=,ENST00000561243,;ACAN,synonymous_variant,p.=,ENST00000352105,NM_001135.3;ACAN,synonymous_variant,p.=,ENST00000558207,;	A	ENST00000439576	Transcript	synonymous_variant	1124/8840	750/7593	250/2530	E	gaG/gaA		1		1	ACAN	HGNC	HGNC:319	protein_coding	YES	CCDS53970.1	ENSP00000387356		E7EX88	UPI0001B23381	NM_013227.3			5/18		hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804,Gene3D:3.10.100.10,Superfamily_domains:SSF56436,Prints_domain:PR01265																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	57	88841860	88841860	G	A	1	0	0	0	0	0	0	0	1	160	933	33	3		3	ACAN	15	88841860	Silent	SNP	G	C3N-00560_TP	5577289	88841860	13149329	1006	18945											
MFGE8	0	.	GRCh38	chr15	88901604	88901604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacccaggcgttgaagttgcCctgcttgtccagccgtgcat	7	10	11	13	2	0	1	0	1	0	0	1	1	1	1	4	1	5	4	4	1	2	3	rs141275837		C3N-00560_TP	C3N-00560_NB	C	C																c.817G>T	p.Gly273Cys	p.G273C	ENST00000268150	6/8	235	116	119	222	222	0	strelka-varscan-mutect	MFGE8,missense_variant,p.Gly273Cys,ENST00000268150,NM_005928.2;MFGE8,missense_variant,p.Gly273Cys,ENST00000268151,NM_001114614.1;MFGE8,missense_variant,p.Gly273Cys,ENST00000566497,;MFGE8,missense_variant,p.Gly229Cys,ENST00000542878,;MFGE8,missense_variant,p.Arg251Ser,ENST00000558029,;MFGE8,downstream_gene_variant,,ENST00000617199,;MFGE8,downstream_gene_variant,,ENST00000559997,;MFGE8,downstream_gene_variant,,ENST00000560553,;MFGE8,3_prime_UTR_variant,,ENST00000558018,NM_001310320.1;MFGE8,non_coding_transcript_exon_variant,,ENST00000560937,;MFGE8,downstream_gene_variant,,ENST00000558352,;MFGE8,downstream_gene_variant,,ENST00000559259,;MFGE8,downstream_gene_variant,,ENST00000613965,;	A	ENST00000268150	Transcript	missense_variant	909/1937	817/1164	273/387	G/C	Ggc/Tgc	rs141275837	1		-1	MFGE8	HGNC	HGNC:7036	protein_coding	YES	CCDS10347.1	ENSP00000268150	Q08431		UPI000013D7A3	NM_005928.2	deleterious(0)		6/8		PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF303,hmmpanther:PTHR10127,Pfam_domain:PF00754,Gene3D:2.60.120.260,SMART_domains:SM00231,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		rs141275837	.												A	3	1	57	88901604	88901604	C	A	1	0	0	0	0	1	0	0	0	9473	623	22	2		2	MFGE8	15	88901604	Missense_Mutation	SNP	C	C3N-00560_TP	59744	88901604	13089585	1007	18946											
ANPEP	0	.	GRCh38	chr15	89803491	89803491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaagctggagagcatcCtgaggactgaggcgccctgg	10	5	16	10	1	0	3	0	2	0	1	1	6	1	5	2	5	2	2	2	5	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1454G>T	p.Arg485Met	p.R485M	ENST00000300060	9/21	143	80	63	134	134	0	strelka-varscan-mutect	ANPEP,missense_variant,p.Arg485Met,ENST00000300060,NM_001150.2;ANPEP,downstream_gene_variant,,ENST00000559874,;ANPEP,downstream_gene_variant,,ENST00000560137,;ANPEP,upstream_gene_variant,,ENST00000558177,;ANPEP,stop_gained,p.Gly93Ter,ENST00000560030,;ANPEP,downstream_gene_variant,,ENST00000560028,;ANPEP,downstream_gene_variant,,ENST00000559887,;ANPEP,upstream_gene_variant,,ENST00000559761,;	A	ENST00000300060	Transcript	missense_variant	1768/3678	1454/2904	485/967	R/M	aGg/aTg		1		-1	ANPEP	HGNC	HGNC:500	protein_coding	YES	CCDS10356.1	ENSP00000300060	P15144	A0A024RC61	UPI00001AECCF	NM_001150.2	deleterious(0)		9/21		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF172,Gene3D:1.10.390.10,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	89803491	89803491	C	A	1	0	0	0	0	1	0	0	0	817	681	24	2		2	ANPEP	15	89803491	Missense_Mutation	SNP	C	C3N-00560_TP	901887	89803491	12187698	1008	18947											
MCTP2	0	.	GRCh38	chr15	94442922	94442922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggatttcctttcaggagAgcacagacatagatgacgag	12	9	13	7	1	1	4	1	1	0	3	2	7	2	5	1	2	1	1	1	2	1	3	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.2212A>G	p.Ser738Gly	p.S738G	ENST00000357742	18/22	111	65	46	125	125	0	strelka-varscan-mutect	MCTP2,missense_variant,p.Ser738Gly,ENST00000357742,NM_018349.3;MCTP2,intron_variant,,ENST00000451018,NM_001159643.1;MCTP2,3_prime_UTR_variant,,ENST00000456504,;	G	ENST00000357742	Transcript	missense_variant	2212/7555	2212/2637	738/878	S/G	Agc/Ggc		1		1	MCTP2	HGNC	HGNC:25636	protein_coding	YES	CCDS32338.1	ENSP00000350377	Q6DN12		UPI0000D613A2	NM_018349.3	tolerated(0.34)		18/22		Pfam_domain:PF08372,hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF78,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	94442922	94442922	A	G	1	0	0	0	0	1	0	0	0	9337	318	11	5		5	MCTP2	15	94442922	Missense_Mutation	SNP	A	C3N-00560_TP	4639431	94442922	7548267	1009	18948											
LRRC28	0	.	GRCh38	chr15	99363110	99363110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttgtgttccagatttGaactttctgtctccaatctc	6	20	5	10	0	4	2	0	1	4	1	7	2	5	2	2	0	1	1	2	0	2	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.876G>T	p.Leu292Phe	p.L292F	ENST00000301981	9/10	173	129	44	140	140	0	strelka-varscan-mutect	LRRC28,missense_variant,p.Leu292Phe,ENST00000301981,NM_001321680.1,NM_001321675.1,NM_001321679.1,NM_144598.3;LRRC28,missense_variant,p.Leu247Phe,ENST00000561276,;LRRC28,intron_variant,,ENST00000447360,NM_001284400.1;LRRC28,intron_variant,,ENST00000331450,;LRRC28,intron_variant,,ENST00000558879,;LRRC28,downstream_gene_variant,,ENST00000558172,;LRRC28,3_prime_UTR_variant,,ENST00000559433,;LRRC28,non_coding_transcript_exon_variant,,ENST00000559819,;LRRC28,non_coding_transcript_exon_variant,,ENST00000558890,;LRRC28,non_coding_transcript_exon_variant,,ENST00000560483,;LRRC28,downstream_gene_variant,,ENST00000558471,;LRRC28,upstream_gene_variant,,ENST00000560236,;	T	ENST00000301981	Transcript	missense_variant	1116/5971	876/1104	292/367	L/F	ttG/ttT		1		1	LRRC28	HGNC	HGNC:28355	protein_coding	YES	CCDS10380.1	ENSP00000304923	Q86X40		UPI000000DBCB	NM_001321680.1,NM_001321675.1,NM_001321679.1,NM_144598.3	tolerated(0.24)		9/10																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	99363110	99363110	G	T	1	0	0	0	0	1	0	0	0	8877	1304	45	2		2	LRRC28	15	99363110	Missense_Mutation	SNP	G	C3N-00560_TP	4920188	99363110	2628079	1010	18949											
PRR35	0	.	GRCh38	chr16	563819	563819	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacccaaggggcgtgggtgcGggggacatggcctcagcagg	7	4	20	10	2	1	0	1	0	0	0	1	2	1	1	2	7	2	1	2	7	1	0	rs535166629		C3N-00560_TP	C3N-00560_NB	G	G																c.525G>T	p.=	p.A175A	ENST00000409413	2/3	24	14	10	33	33	0	strelka-varscan-mutect	PRR35,synonymous_variant,p.=,ENST00000409413,NM_145270.2;NHLRC4,upstream_gene_variant,,ENST00000424439,NM_176677.2,NM_001301159.1;NHLRC4,upstream_gene_variant,,ENST00000540585,;PIGQ,upstream_gene_variant,,ENST00000409527,;PIGQ,upstream_gene_variant,,ENST00000293874,;	T	ENST00000409413	Transcript	synonymous_variant	804/2216	525/1716	175/571	A	gcG/gcT	rs535166629	1		1	PRR35	HGNC	HGNC:14139	protein_coding	YES	CCDS45365.1	ENSP00000386499	P0CG20		UPI000006F4B0	NM_145270.2			2/3		hmmpanther:PTHR14678:SF2,hmmpanther:PTHR14678																	LOW	1	SNV	1			1										PASS		rs535166629	.												T	2	4	57	563819	563819	G	T	1	0	0	0	0	0	0	0	1	12740	1103	39	1		1	PRR35	16	563819	Silent	SNP	G	C3N-00560_TP		563819	89774526	1011	18950											
CACNA1H	0	.	GRCh38	chr16	1220899	1220899	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accccccagagaagaggcggGggctgtacctcacagtcccc	9	4	12	16	1	1	2	1	0	0	2	2	3	2	2	6	3	1	2	6	3	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.6967G>C	p.Gly2323Arg	p.G2323R	ENST00000348261	35/35	174	91	83	146	146	0	strelka-varscan-mutect	CACNA1H,missense_variant,p.Gly2323Arg,ENST00000348261,NM_021098.2;CACNA1H,missense_variant,p.Gly2317Arg,ENST00000358590,NM_001005407.1;CACNA1H,missense_variant,p.Gly2317Arg,ENST00000565831,;CACNA1H,missense_variant,p.Gly1070Arg,ENST00000569107,;CACNA1H,missense_variant,p.Gly1054Arg,ENST00000564231,;CACNA1H,missense_variant,p.Gly1048Arg,ENST00000562079,;TPSG1,downstream_gene_variant,,ENST00000234798,NM_012467.3;RP11-616M22.12,upstream_gene_variant,,ENST00000621827,;TPSG1,downstream_gene_variant,,ENST00000564684,;	C	ENST00000348261	Transcript	missense_variant	7335/8208	6967/7062	2323/2353	G/R	Ggg/Cgg		1		1	CACNA1H	HGNC	HGNC:1395	protein_coding	YES	CCDS45375.1	ENSP00000334198	O95180		UPI000012727B	NM_021098.2	deleterious_low_confidence(0.02)		35/35		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	1220899	1220899	G	C	1	0	0	0	0	1	0	0	0	2233	1232	43	4		4	CACNA1H	16	1220899	Missense_Mutation	SNP	G	C3N-00560_TP	657080	1220899	89117446	1012	18951											
ABCA3	0	.	GRCh38	chr16	2278354	2278354	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggtgtcccaaagcaggCgccgggccacggggtccatg	7	4	15	15	4	0	0	0	0	0	0	2	0	2	0	5	5	1	1	5	5	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.4652G>T	p.Arg1551Leu	p.R1551L	ENST00000301732	30/33	236	120	116	229	229	0	strelka-varscan-mutect	ABCA3,missense_variant,p.Arg1551Leu,ENST00000301732,NM_001089.2;ABCA3,missense_variant,p.Arg1493Leu,ENST00000382381,;MIR940,downstream_gene_variant,,ENST00000563734,;MIR4717,downstream_gene_variant,,ENST00000584656,;ABCA3,non_coding_transcript_exon_variant,,ENST00000566200,;ABCA3,downstream_gene_variant,,ENST00000569062,;	A	ENST00000301732	Transcript	missense_variant	5353/6609	4652/5115	1551/1704	R/L	cGc/cTc		1		-1	ABCA3	HGNC	HGNC:33	protein_coding	YES	CCDS10466.1	ENSP00000301732	Q99758		UPI0000001232	NM_001089.2	deleterious(0)		30/33		Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1333633950	.												A	3	1	57	2278354	2278354	C	A	1	0	0	0	0	1	0	0	0	37	768	27	1		1	ABCA3	16	2278354	Missense_Mutation	SNP	C	C3N-00560_TP	1057455	2278354	88059991	1013	18952											
CCNF	0	.	GRCh38	chr16	2439826	2439826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggctgctgggaagcgcaGgtgaggtgcggggctgggat	8	6	21	6	2	0	1	0	1	0	0	0	3	0	3	0	7	3	4	0	7	2	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.777G>T	p.Gln259His	p.Q259H	ENST00000397066	8/17	170	106	64	231	230	1	strelka-varscan-mutect	CCNF,missense_variant,p.Gln259His,ENST00000397066,NM_001761.2;CCNF,splice_region_variant,,ENST00000293968,NM_001323538.1;CCNF,downstream_gene_variant,,ENST00000564333,;CCNF,downstream_gene_variant,,ENST00000569093,;CCNF,upstream_gene_variant,,ENST00000564236,;	T	ENST00000397066	Transcript	missense_variant,splice_region_variant	865/4283	777/2361	259/786	Q/H	caG/caT		1		1	CCNF	HGNC	HGNC:1591	protein_coding	YES	CCDS10467.1	ENSP00000380256	P41002		UPI0000127595	NM_001761.2	deleterious(0)		8/17		hmmpanther:PTHR10177:SF252,hmmpanther:PTHR10177,Gene3D:1.25.40.10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	2439826	2439826	G	T	1	0	0	0	0	1	0	0	0	2621	1014	35	2		2	CCNF	16	2439826	Missense_Mutation	SNP	G	C3N-00560_TP	161472	2439826	87898519	1014	18953											
AMDHD2	0	.	GRCh38	chr16	2527950	2527950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtagccacgaagtgatccGggcgctgacggcccgtggca	7	5	15	14	6	0	2	0	2	0	0	1	3	1	2	4	3	1	3	4	3	2	1	rs563365209		C3N-00560_TP	C3N-00560_NB	G	G																c.593G>T	p.Arg198Leu	p.R198L	ENST00000413459	5/11	174	95	79	177	177	0	strelka-varscan-mutect	AMDHD2,missense_variant,p.Arg198Leu,ENST00000302956,NM_015944.3;AMDHD2,missense_variant,p.Arg198Leu,ENST00000413459,NM_001145815.1;AMDHD2,missense_variant,p.Arg198Leu,ENST00000293971,;RP11-20I23.3,missense_variant,p.Arg151Leu,ENST00000569317,;AMDHD2,5_prime_UTR_variant,,ENST00000568263,;AMDHD2,intron_variant,,ENST00000566706,;AMDHD2,intron_variant,,ENST00000569879,;CEMP1,downstream_gene_variant,,ENST00000567119,NM_001048212.3;CEMP1,downstream_gene_variant,,ENST00000565480,;AMDHD2,downstream_gene_variant,,ENST00000563556,;MIR3178,downstream_gene_variant,,ENST00000581887,;AMDHD2,intron_variant,,ENST00000565570,;AMDHD2,3_prime_UTR_variant,,ENST00000563633,;AMDHD2,non_coding_transcript_exon_variant,,ENST00000565963,;AMDHD2,non_coding_transcript_exon_variant,,ENST00000567475,;AMDHD2,non_coding_transcript_exon_variant,,ENST00000561487,;AMDHD2,non_coding_transcript_exon_variant,,ENST00000570028,;AMDHD2,non_coding_transcript_exon_variant,,ENST00000566947,;AMDHD2,upstream_gene_variant,,ENST00000563145,;AMDHD2,downstream_gene_variant,,ENST00000569219,;AMDHD2,upstream_gene_variant,,ENST00000563453,;AMDHD2,upstream_gene_variant,,ENST00000563444,;	T	ENST00000413459	Transcript	missense_variant	662/2049	593/1785	198/594	R/L	cGg/cTg	rs563365209,COSM5384590,COSM5384591	1		1	AMDHD2	HGNC	HGNC:24262	protein_coding	YES	CCDS53984.1	ENSP00000391596	Q9Y303		UPI00017A73A4	NM_001145815.1	tolerated(0.08)		5/11		Gene3D:3.20.20.140,Pfam_domain:PF01979,hmmpanther:PTHR11113,hmmpanther:PTHR11113:SF1,Superfamily_domains:SSF51556											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs563365209	.												T	3	4	57	2527950	2527950	G	T	1	0	0	0	0	1	0	0	0	664	1116	39	1		1	AMDHD2	16	2527950	Missense_Mutation	SNP	G	C3N-00560_TP	88124	2527950	87810395	1015	18954											
ZSCAN10	0	.	GRCh38	chr16	3089989	3089989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcggcgctggaagctctggCcgcagtgggagcacaggaca	9	4	17	11	3	1	0	0	0	1	0	1	3	1	3	1	5	3	4	1	5	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1034G>T	p.Gly345Val	p.G345V	ENST00000538082	5/5	273	148	125	227	227	0	strelka-varscan-mutect	ZSCAN10,missense_variant,p.Gly482Val,ENST00000576985,NM_032805.2;ZSCAN10,missense_variant,p.Gly427Val,ENST00000252463,;ZSCAN10,missense_variant,p.Gly345Val,ENST00000538082,NM_001282416.1;ZSCAN10,missense_variant,p.Gly88Val,ENST00000575108,NM_001282415.1;ZSCAN10,downstream_gene_variant,,ENST00000576483,;ZSCAN10,downstream_gene_variant,,ENST00000572548,;ZSCAN10,downstream_gene_variant,,ENST00000572431,;RP11-473M20.9,upstream_gene_variant,,ENST00000571404,;RP11-473M20.9,upstream_gene_variant,,ENST00000574387,;RNU1-22P,downstream_gene_variant,,ENST00000363334,;ZSCAN10,downstream_gene_variant,,ENST00000571903,;ZSCAN10,downstream_gene_variant,,ENST00000577059,;	A	ENST00000538082	Transcript	missense_variant	1350/2350	1034/1932	345/643	G/V	gGc/gTc		1		-1	ZSCAN10	HGNC	HGNC:12997	protein_coding	YES	CCDS61814.1	ENSP00000440047	Q96SZ4		UPI0001639829	NM_001282416.1	deleterious(0.02)		5/5		Gene3D:3.30.160.60,Pfam_domain:PF13894,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF369,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	4			1										PASS		.	.												A	3	1	57	3089989	3089989	C	A	1	0	0	0	0	1	0	0	0	18821	739	26	2		2	ZSCAN10	16	3089989	Missense_Mutation	SNP	C	C3N-00560_TP	562039	3089989	87248356	1016	18955											
CORO7	0	.	GRCh38	chr16	4365060	4365060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagtacagctgcctctcgcCctgaaatgagtctgaactga	11	9	9	12	1	2	4	0	4	2	0	3	4	2	4	2	0	4	2	2	0	3	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.841G>T	p.Gly281Cys	p.G281C	ENST00000251166	11/28	141	84	57	186	185	1	strelka-varscan-mutect	CORO7,missense_variant,p.Gly281Cys,ENST00000251166,NM_024535.4;CORO7,missense_variant,p.Gly263Cys,ENST00000537233,NM_001201472.1;CORO7-PAM16,missense_variant,p.Gly281Cys,ENST00000572467,NM_001201479.1;CORO7,missense_variant,p.Gly196Cys,ENST00000574025,NM_001201473.1;CORO7,missense_variant,p.Gly126Cys,ENST00000572549,;CORO7,missense_variant,p.Gly113Cys,ENST00000572044,;CORO7-PAM16,missense_variant,p.Gly281Cys,ENST00000575334,;CORO7,missense_variant,p.Gly113Cys,ENST00000574311,;CORO7,splice_region_variant,,ENST00000571227,;CORO7,splice_region_variant,,ENST00000575714,;CORO7,splice_region_variant,,ENST00000571756,;CORO7,intron_variant,,ENST00000576437,;CORO7,upstream_gene_variant,,ENST00000575531,;CORO7,upstream_gene_variant,,ENST00000572666,;CORO7,upstream_gene_variant,,ENST00000573773,;	A	ENST00000251166	Transcript	missense_variant,splice_region_variant	987/3540	841/2778	281/925	G/C	Ggc/Tgc		1		-1	CORO7	HGNC	HGNC:26161	protein_coding	YES	CCDS10513.1	ENSP00000251166	P57737		UPI00001FF898	NM_024535.4	deleterious(0)		11/28		hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF20,Gene3D:2.130.10.10,SMART_domains:SM01167,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	4365060	4365060	C	A	1	0	0	0	0	1	0	0	0	3553	637	22	2		2	CORO7	16	4365060	Missense_Mutation	SNP	C	C3N-00560_TP	1275071	4365060	85973285	1017	18956											
C16orf71	0	.	GRCh38	chr16	4737875	4737875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccagacctgtcggaggagCtggctgaagatcctgccgat	8	9	13	11	2	0	3	0	1	0	2	3	6	2	5	4	3	2	2	4	3	1	1	rs780545004		C3N-00560_TP	C3N-00560_NB	C	C																c.205C>A	p.Leu69Met	p.L69M	ENST00000299320	3/10	175	112	63	196	196	0	strelka-varscan-mutect	C16orf71,missense_variant,p.Leu69Met,ENST00000299320,NM_139170.2;C16orf71,missense_variant,p.Leu69Met,ENST00000590191,;C16orf71,missense_variant,p.Leu69Met,ENST00000586724,;ANKS3,upstream_gene_variant,,ENST00000304283,NM_133450.3;ANKS3,upstream_gene_variant,,ENST00000450067,NM_001242929.1;ANKS3,upstream_gene_variant,,ENST00000585773,;ANKS3,upstream_gene_variant,,ENST00000592421,;ANKS3,upstream_gene_variant,,ENST00000592698,;ANKS3,upstream_gene_variant,,ENST00000586605,;C16orf71,upstream_gene_variant,,ENST00000619274,;ANKS3,upstream_gene_variant,,ENST00000590147,;ANKS3,upstream_gene_variant,,ENST00000586166,;ANKS3,upstream_gene_variant,,ENST00000592711,;ANKS3,upstream_gene_variant,,ENST00000592190,;ANKS3,upstream_gene_variant,,ENST00000589065,;RP11-127I20.7,non_coding_transcript_exon_variant,,ENST00000588099,;C16orf71,non_coding_transcript_exon_variant,,ENST00000586256,;ANKS3,upstream_gene_variant,,ENST00000592077,;ANKS3,upstream_gene_variant,,ENST00000590193,;ANKS3,upstream_gene_variant,,ENST00000590730,;ANKS3,upstream_gene_variant,,ENST00000592068,;ANKS3,upstream_gene_variant,,ENST00000586159,;ANKS3,upstream_gene_variant,,ENST00000590689,;ANKS3,upstream_gene_variant,,ENST00000593120,;ANKS3,upstream_gene_variant,,ENST00000587005,;ANKS3,upstream_gene_variant,,ENST00000591281,;	A	ENST00000299320	Transcript	missense_variant	683/2722	205/1563	69/520	L/M	Ctg/Atg	rs780545004	1		1	C16orf71	HGNC	HGNC:25081	protein_coding	YES	CCDS10521.1	ENSP00000299320	Q8IYS4		UPI000013E57E	NM_139170.2	deleterious(0)		3/10		hmmpanther:PTHR35977,hmmpanther:PTHR35977:SF1,Pfam_domain:PF15773																	MODERATE	1	SNV	1			1										PASS		rs780545004	.												A	3	1	57	4737875	4737875	C	A	1	0	0	0	0	1	0	0	0	1863	796	28	2		2	C16orf71	16	4737875	Missense_Mutation	SNP	C	C3N-00560_TP	372815	4737875	85600470	1018	18957											
CPPED1	0	.	GRCh38	chr16	12704977	12704977	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgccgctgacaaggaccAgtgggatggccctgtccact	7	8	14	12	1	0	1	0	1	0	0	1	3	1	3	4	4	1	2	4	4	1	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.362T>A	p.Leu121Gln	p.L121Q	ENST00000381774	3/4	187	86	101	188	188	0	strelka-varscan-mutect	CPPED1,missense_variant,p.Leu121Gln,ENST00000381774,NM_018340.2;CPPED1,intron_variant,,ENST00000433677,NM_001099455.1;CPPED1,intron_variant,,ENST00000261660,;	T	ENST00000381774	Transcript	missense_variant	603/6273	362/945	121/314	L/Q	cTg/cAg		1		-1	CPPED1	HGNC	HGNC:25632	protein_coding	YES	CCDS42120.1	ENSP00000371193	Q9BRF8		UPI000013D1D1	NM_018340.2	deleterious(0)		3/4		hmmpanther:PTHR22953,hmmpanther:PTHR22953:SF34,Pfam_domain:PF00149,Gene3D:3.60.21.10,Superfamily_domains:SSF56300																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	12704977	12704977	A	T	1	0	0	0	0	1	0	0	0	3617	188	7	4		4	CPPED1	16	12704977	Missense_Mutation	SNP	A	C3N-00560_TP	7967102	12704977	77633368	1019	18958											
SHISA9	0	.	GRCh38	chr16	13235381	13235381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccacagccatacttcatcaCcaacagcaaaacagaagtga	17	5	5	14	0	2	2	2	1	0	1	2	2	2	2	3	0	5	1	3	0	5	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1247C>A	p.Thr416Asn	p.T416N	ENST00000558583	5/5	74	38	36	121	121	0	strelka-varscan-mutect	SHISA9,missense_variant,p.Thr416Asn,ENST00000558583,NM_001145204.2;SHISA9,downstream_gene_variant,,ENST00000566106,;	A	ENST00000558583	Transcript	missense_variant	1692/6724	1247/1275	416/424	T/N	aCc/aAc		1		1	SHISA9	HGNC	HGNC:37231	protein_coding	YES	CCDS45417.2	ENSP00000454014	B4DS77		UPI0001CE6F1C	NM_001145204.2	deleterious(0)		5/5		hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	13235381	13235381	C	A	1	0	0	0	0	1	0	0	0	14546	507	18	2		2	SHISA9	16	13235381	Missense_Mutation	SNP	C	C3N-00560_TP	530404	13235381	77102964	1020	18959											
POLR3E	0	.	GRCh38	chr16	22315169	22315169	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcagaagaagcacgcAgaggagccctgggtccacct	10	6	12	13	1	0	3	0	0	0	3	2	4	2	4	4	2	3	3	4	2	2	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.603A>T	p.=	p.A201A	ENST00000299853	9/21	143	85	58	146	146	0	strelka-varscan-mutect	POLR3E,synonymous_variant,p.=,ENST00000299853,NM_018119.3;POLR3E,synonymous_variant,p.=,ENST00000615879,NM_001258035.1;POLR3E,synonymous_variant,p.=,ENST00000418581,NM_001258034.1;POLR3E,synonymous_variant,p.=,ENST00000359210,NM_001258036.1;POLR3E,synonymous_variant,p.=,ENST00000564209,NM_001258033.1;POLR3E,5_prime_UTR_variant,,ENST00000569757,;POLR3E,downstream_gene_variant,,ENST00000565358,;POLR3E,downstream_gene_variant,,ENST00000563024,;POLR3E,3_prime_UTR_variant,,ENST00000564750,;POLR3E,3_prime_UTR_variant,,ENST00000565551,;POLR3E,non_coding_transcript_exon_variant,,ENST00000564061,;POLR3E,downstream_gene_variant,,ENST00000563766,;POLR3E,upstream_gene_variant,,ENST00000569787,;	T	ENST00000299853	Transcript	synonymous_variant	770/3697	603/2127	201/708	A	gcA/gcT		1		1	POLR3E	HGNC	HGNC:30347	protein_coding	YES	CCDS10605.1	ENSP00000299853	Q9NVU0		UPI000006D8F8	NM_018119.3			9/21		hmmpanther:PTHR12069,Pfam_domain:PF04801																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	22315169	22315169	A	T	1	0	0	0	0	0	0	0	1	12343	175	7	4		4	POLR3E	16	22315169	Silent	SNP	A	C3N-00560_TP	9079788	22315169	68023176	1021	18960											
IL21R	0	.	GRCh38	chr16	27444651	27444651	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgggcagggcccatgcCtggctcctcctaccagggga	5	6	16	14	1	0	0	0	0	0	0	2	1	2	1	5	6	3	2	5	6	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.617C>G	p.Pro206Arg	p.P206R	ENST00000337929	6/9	56	37	19	54	54	0	strelka-varscan-mutect	IL21R,missense_variant,p.Pro206Arg,ENST00000337929,NM_181078.2;IL21R,missense_variant,p.Pro206Arg,ENST00000564089,NM_181079.4;IL21R,missense_variant,p.Pro206Arg,ENST00000395754,NM_021798.3;IL21R-AS1,downstream_gene_variant,,ENST00000563191,;IL21R,non_coding_transcript_exon_variant,,ENST00000564583,;IL21R,non_coding_transcript_exon_variant,,ENST00000561953,;	G	ENST00000337929	Transcript	missense_variant	1090/4849	617/1617	206/538	P/R	cCt/cGt		1		1	IL21R	HGNC	HGNC:6006	protein_coding	YES	CCDS10630.1	ENSP00000338010	Q9HBE5		UPI0000043CF0	NM_181078.2	deleterious(0)		6/9		Gene3D:2.60.40.10,PROSITE_patterns:PS01355,PROSITE_profiles:PS50853,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF7,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	27444651	27444651	C	G	1	0	0	0	0	1	0	0	0	7574	681	24	4		4	IL21R	16	27444651	Missense_Mutation	SNP	C	C3N-00560_TP	5129482	27444651	62893694	1022	18961											
GTF3C1	0	.	GRCh38	chr16	27505925	27505925	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttccatccggacctcctCgatcacagctatgtcaccac	8	11	6	16	2	2	0	2	0	0	0	6	2	5	1	5	1	1	2	5	1	1	3	rs777212155		C3N-00560_TP	C3N-00560_NB	C	C																c.1744G>T	p.Glu582Ter	p.E582*	ENST00000356183	10/37	195	129	66	158	158	0	strelka-varscan-mutect	GTF3C1,stop_gained,p.Glu582Ter,ENST00000356183,NM_001520.3;GTF3C1,stop_gained,p.Glu582Ter,ENST00000561623,NM_001286242.1;GTF3C1,upstream_gene_variant,,ENST00000569653,;	A	ENST00000356183	Transcript	stop_gained	1760/7018	1744/6330	582/2109	E/*	Gag/Tag	rs777212155	1		-1	GTF3C1	HGNC	HGNC:4664	protein_coding	YES	CCDS32414.1	ENSP00000348510	Q12789		UPI00001FF123	NM_001520.3			10/37		hmmpanther:PTHR15180,hmmpanther:PTHR15180:SF1																	HIGH	1	SNV	1			1										PASS		rs777212155	.												A	4	1	57	27505925	27505925	C	A	1	0	0	0	0	0	1	0	0	6753	893	31	1		1	GTF3C1	16	27505925	Nonsense_Mutation	SNP	C	C3N-00560_TP	61274	27505925	62832420	1023	18962											
APOBR	0	.	GRCh38	chr16	28496014	28496014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctgaaacagcctcaggcGgggaggaggccgggacagcc	10	2	18	11	2	1	1	1	1	0	0	1	4	1	4	3	7	3	1	3	7	1	0	rs199560946		C3N-00560_TP	C3N-00560_NB	G	G																c.973G>T	p.Gly325Trp	p.G325W	ENST00000564831	2/4	69	52	17	54	54	0	strelka-varscan-mutect	APOBR,missense_variant,p.Gly325Trp,ENST00000564831,NM_018690.3;APOBR,missense_variant,p.Gly325Trp,ENST00000431282,;CLN3,upstream_gene_variant,,ENST00000569430,;CLN3,upstream_gene_variant,,ENST00000636147,NM_001042432.1;CLN3,upstream_gene_variant,,ENST00000359984,NM_000086.2;CLN3,upstream_gene_variant,,ENST00000360019,NM_001286104.1;CLN3,upstream_gene_variant,,ENST00000357857,NM_001286110.1;CLN3,upstream_gene_variant,,ENST00000333496,;CLN3,upstream_gene_variant,,ENST00000631023,;CLN3,upstream_gene_variant,,ENST00000357806,;CLN3,upstream_gene_variant,,ENST00000567963,NM_001286109.1;CLN3,upstream_gene_variant,,ENST00000395653,;CLN3,upstream_gene_variant,,ENST00000565316,;CLN3,upstream_gene_variant,,ENST00000637100,;CLN3,upstream_gene_variant,,ENST00000636228,;CLN3,upstream_gene_variant,,ENST00000355477,;CLN3,upstream_gene_variant,,ENST00000635973,;IL27,downstream_gene_variant,,ENST00000356897,NM_145659.3;CLN3,upstream_gene_variant,,ENST00000568443,;CLN3,upstream_gene_variant,,ENST00000568497,;CLN3,upstream_gene_variant,,ENST00000565778,;CLN3,upstream_gene_variant,,ENST00000565688,;CLN3,upstream_gene_variant,,ENST00000568558,;CLN3,upstream_gene_variant,,ENST00000567804,;CLN3,upstream_gene_variant,,ENST00000636355,;CLN3,upstream_gene_variant,,ENST00000567160,;CLN3,upstream_gene_variant,,ENST00000565236,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000637110,;CLN3,upstream_gene_variant,,ENST00000566472,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000637686,;CLN3,upstream_gene_variant,,ENST00000565047,;CLN3,upstream_gene_variant,,ENST00000563874,;CLN3,upstream_gene_variant,,ENST00000636977,;RP11-435I10.4,upstream_gene_variant,,ENST00000635887,;RP11-435I10.4,upstream_gene_variant,,ENST00000636503,;RP11-435I10.4,upstream_gene_variant,,ENST00000637376,;RP11-435I10.4,upstream_gene_variant,,ENST00000636866,;RP11-435I10.4,upstream_gene_variant,,ENST00000636078,;CLN3,upstream_gene_variant,,ENST00000636853,;RP11-435I10.4,upstream_gene_variant,,ENST00000636017,;RP11-435I10.4,upstream_gene_variant,,ENST00000636766,;CLN3,upstream_gene_variant,,ENST00000636839,;CLN3,upstream_gene_variant,,ENST00000568076,;CLN3,upstream_gene_variant,,ENST00000561689,;RP11-435I10.4,upstream_gene_variant,,ENST00000637299,;CLN3,upstream_gene_variant,,ENST00000637107,;CLN3,upstream_gene_variant,,ENST00000635958,;CLN3,upstream_gene_variant,,ENST00000637184,;RP11-435I10.4,upstream_gene_variant,,ENST00000568224,;CLN3,upstream_gene_variant,,ENST00000568452,;CLN3,upstream_gene_variant,,ENST00000637871,;CLN3,upstream_gene_variant,,ENST00000637578,;CLN3,upstream_gene_variant,,ENST00000636172,;CLN3,upstream_gene_variant,,ENST00000566083,;CLN3,upstream_gene_variant,,ENST00000635861,;CLN3,upstream_gene_variant,,ENST00000566824,;CLN3,upstream_gene_variant,,ENST00000637699,;CLN3,upstream_gene_variant,,ENST00000565140,;CLN3,upstream_gene_variant,,ENST00000628023,;CLN3,upstream_gene_variant,,ENST00000568422,;CLN3,upstream_gene_variant,,ENST00000564574,;CLN3,upstream_gene_variant,,ENST00000569030,;CLN3,upstream_gene_variant,,ENST00000568472,;CLN3,upstream_gene_variant,,ENST00000566057,;CLN3,upstream_gene_variant,,ENST00000567495,;CLN3,upstream_gene_variant,,ENST00000637985,;CLN3,upstream_gene_variant,,ENST00000561505,;	T	ENST00000564831	Transcript	missense_variant	1006/3792	973/3294	325/1097	G/W	Ggg/Tgg	rs199560946	1		1	APOBR	HGNC	HGNC:24087	protein_coding	YES	CCDS58442.1	ENSP00000457539	Q0VD83		UPI000013EFFC	NM_018690.3	deleterious(0.04)		2/4		Low_complexity_(Seg):seg,hmmpanther:PTHR15964:SF0,hmmpanther:PTHR15964																	MODERATE	1	SNV	1			1										PASS		rs199560946	.												T	3	4	57	28496014	28496014	G	T	1	0	0	0	0	1	0	0	0	918	1116	39	1		1	APOBR	16	28496014	Missense_Mutation	SNP	G	C3N-00560_TP	990089	28496014	61842331	1024	18963											
ITGAL	0	.	GRCh38	chr16	30517015	30517015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaccacaacatacccaccCtggaggctgtggttggggtg	9	7	13	12	1	0	0	0	0	0	0	0	2	0	1	3	5	2	2	3	5	2	2	rs771190771		C3N-00560_TP	C3N-00560_NB	C	C																c.2905C>A	p.Leu969Met	p.L969M	ENST00000356798	26/31	230	163	67	161	161	0	strelka-varscan-mutect	ITGAL,missense_variant,p.Leu969Met,ENST00000356798,NM_002209.2;ITGAL,missense_variant,p.Leu885Met,ENST00000358164,NM_001114380.1;ITGAL,missense_variant,p.Leu203Met,ENST00000433423,;ITGAL,non_coding_transcript_exon_variant,,ENST00000566267,;ITGAL,upstream_gene_variant,,ENST00000564632,;	A	ENST00000356798	Transcript	missense_variant	3085/5213	2905/3513	969/1170	L/M	Ctg/Atg	rs771190771,COSM435108	1		1	ITGAL	HGNC	HGNC:6148	protein_coding	YES	CCDS32433.1	ENSP00000349252	P20701		UPI000013C4FF	NM_002209.2	deleterious(0.04)		26/31		hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF84											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs771190771	.												A	3	1	57	30517015	30517015	C	A	1	0	0	0	0	1	0	0	0	7793	680	24	2		2	ITGAL	16	30517015	Missense_Mutation	SNP	C	C3N-00560_TP	2021001	30517015	59821330	1025	18964											
SRCAP	0	.	GRCh38	chr16	30720204	30720204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttattggcctggaaggtCgtgtctctcgatatgaggca	8	12	12	9	2	1	1	0	1	1	0	4	3	1	2	2	4	0	1	2	4	3	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2860C>T	p.Arg954Cys	p.R954C	ENST00000262518	19/34	172	146	26	120	120	0	strelka-varscan-mutect	SRCAP,missense_variant,p.Arg954Cys,ENST00000262518,NM_006662.2;SRCAP,missense_variant,p.Arg757Cys,ENST00000395059,;SRCAP,missense_variant,p.Arg654Cys,ENST00000483083,;RP11-2C24.9,missense_variant,p.Arg935Cys,ENST00000380361,;	T	ENST00000262518	Transcript	missense_variant	3245/11754	2860/9693	954/3230	R/C	Cgt/Tgt		1		1	SRCAP	HGNC	HGNC:16974	protein_coding	YES	CCDS10689.2	ENSP00000262518	Q6ZRS2		UPI000059D368	NM_006662.2	deleterious(0.01)		19/34																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	30720204	30720204	C	T	1	0	0	0	0	1	0	0	0	15493	884	31	1		1	SRCAP	16	30720204	Missense_Mutation	SNP	C	C3N-00560_TP	203189	30720204	59618141	1026	18965											
ITGAD	0	.	GRCh38	chr16	31423398	31423398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccatcagcattaacttctGggttcctgtcctgctgaacg	7	12	10	12	1	2	1	1	1	1	0	4	1	4	1	3	2	4	3	3	2	2	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2906G>T	p.Trp969Leu	p.W969L	ENST00000389202	25/30	280	199	81	208	208	0	strelka-varscan-mutect	ITGAD,missense_variant,p.Trp969Leu,ENST00000389202,NM_001318185.1,NM_005353.2;COX6A2,downstream_gene_variant,,ENST00000287490,NM_005205.3;RP11-452L6.8,upstream_gene_variant,,ENST00000615068,;ITGAD,upstream_gene_variant,,ENST00000567308,;COX6A2,downstream_gene_variant,,ENST00000565462,;	T	ENST00000389202	Transcript	missense_variant	2955/3912	2906/3486	969/1161	W/L	tGg/tTg		1		1	ITGAD	HGNC	HGNC:6146	protein_coding	YES	CCDS32438.1	ENSP00000373854	Q13349		UPI000004B27A	NM_001318185.1,NM_005353.2	tolerated(0.15)		25/30		hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	31423398	31423398	G	T	1	0	0	0	0	1	0	0	0	7791	1357	47	2		2	ITGAD	16	31423398	Missense_Mutation	SNP	G	C3N-00560_TP	703194	31423398	58914947	1027	18966											
ARMC5	0	.	GRCh38	chr16	31459858	31459858	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtcgggccccgcccccTccgctgtgtcgtcgtctagt	1	9	12	19	7	1	0	0	0	1	0	5	0	2	0	6	1	0	1	6	1	1	1	rs777779636		C3N-00560_TP	C3N-00560_NB	T	T																c.619T>A	p.Ser207Thr	p.S207T	ENST00000408912	3/8	476	393	83	287	286	1	strelka-varscan-mutect	ARMC5,missense_variant,p.Ser112Thr,ENST00000457010,NM_024742.2;ARMC5,missense_variant,p.Ser207Thr,ENST00000408912,NM_001288767.1;ARMC5,missense_variant,p.Ser112Thr,ENST00000268314,NM_001105247.1;ARMC5,missense_variant,p.Ser112Thr,ENST00000563544,NM_001301820.1;ARMC5,5_prime_UTR_variant,,ENST00000538189,;ARMC5,upstream_gene_variant,,ENST00000564900,;RP11-452L6.5,upstream_gene_variant,,ENST00000564629,;ARMC5,upstream_gene_variant,,ENST00000564514,;	A	ENST00000408912	Transcript	missense_variant	936/3626	619/3093	207/1030	S/T	Tcc/Acc	rs777779636	1		1	ARMC5	HGNC	HGNC:25781	protein_coding	YES	CCDS73874.1	ENSP00000386125		J3KQ26	UPI0001AE681E	NM_001288767.1	tolerated_low_confidence(0.07)		3/8		Low_complexity_(Seg):seg,hmmpanther:PTHR23312																	MODERATE	1	SNV	2			1										PASS		rs777779636	.												A	3	1	57	31459858	31459858	T	A	1	0	0	0	0	1	0	0	0	1095	1551	54	4		4	ARMC5	16	31459858	Missense_Mutation	SNP	T	C3N-00560_TP	36460	31459858	58878487	1028	18967											
NETO2	0	.	GRCh38	chr16	47083636	47083636	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcaaacacttcttggaacCcggttttattaaaagcggtt	12	13	8	8	2	2	0	1	0	1	0	2	2	2	1	1	3	3	2	1	3	5	6	rs572763783		C3N-00560_TP	C3N-00560_NB	C	C																c.1163G>C	p.Gly388Ala	p.G388A	ENST00000562435	9/9	217	128	89	259	259	0	strelka-varscan-mutect	NETO2,missense_variant,p.Gly388Ala,ENST00000562435,NM_018092.4;NETO2,missense_variant,p.Gly381Ala,ENST00000303155,NM_001201477.1;NETO2,missense_variant,p.Gly228Ala,ENST00000562559,;NETO2,missense_variant,p.Gly91Ala,ENST00000564667,;NETO2,missense_variant,p.Gly187Ala,ENST00000563078,;	G	ENST00000562435	Transcript	missense_variant	1548/7481	1163/1578	388/525	G/A	gGg/gCg	rs572763783,COSM1679063	1		-1	NETO2	HGNC	HGNC:14644	protein_coding	YES	CCDS10727.1	ENSP00000455169	Q8NC67		UPI000003C718	NM_018092.4	tolerated(0.84)		9/9		hmmpanther:PTHR10127:SF314,hmmpanther:PTHR10127											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs572763783	.												G	3	3	57	47083636	47083636	C	G	1	0	0	0	0	1	0	0	0	10375	623	22	4		4	NETO2	16	47083636	Missense_Mutation	SNP	C	C3N-00560_TP	15623778	47083636	43254709	1029	18968											
ZNF423	0	.	GRCh38	chr16	49636649	49636649	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgccgttctcggtcgcagCatcaaacacacagtgcttct	8	10	9	14	4	3	0	1	0	2	0	5	0	3	0	1	1	4	4	1	1	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2503G>C	p.Ala835Pro	p.A835P	ENST00000561648	5/9	158	84	74	198	197	1	strelka-varscan-mutect	ZNF423,missense_variant,p.Ala835Pro,ENST00000561648,;ZNF423,missense_variant,p.Ala775Pro,ENST00000563137,;ZNF423,missense_variant,p.Ala835Pro,ENST00000262383,NM_015069.3;ZNF423,missense_variant,p.Ala775Pro,ENST00000562871,;ZNF423,missense_variant,p.Ala718Pro,ENST00000535559,;ZNF423,missense_variant,p.Ala775Pro,ENST00000562520,NM_001271620.1;ZNF423,missense_variant,p.Ala718Pro,ENST00000567169,;	G	ENST00000561648	Transcript	missense_variant	2804/7907	2503/3855	835/1284	A/P	Gct/Cct		1		-1	ZNF423	HGNC	HGNC:16762	protein_coding	YES	CCDS32445.1	ENSP00000455426	Q2M1K9		UPI0000353ABC		tolerated(0.23)		5/9		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF210																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	57	49636649	49636649	C	G	1	0	0	0	0	1	0	0	0	18470	710	25	4		4	ZNF423	16	49636649	Missense_Mutation	SNP	C	C3N-00560_TP	2553013	49636649	40701696	1030	18969											
CYLD	0	.	GRCh38	chr16	50792651	50792651	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggaaaagactttaaactaTttaaaaaaatttttccttct	16	17	3	5	0	1	1	0	0	1	1	2	2	2	2	1	1	1	0	1	1	9	9	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.2296T>C	p.Phe766Leu	p.F766L	ENST00000427738	15/18	80	39	41	150	150	0	strelka-varscan-mutect	CYLD,missense_variant,p.Phe766Leu,ENST00000427738,;CYLD,missense_variant,p.Phe766Leu,ENST00000311559,NM_015247.2;CYLD,missense_variant,p.Phe763Leu,ENST00000398568,NM_001042412.1;CYLD,missense_variant,p.Phe763Leu,ENST00000569418,NM_001042355.1;CYLD,missense_variant,p.Phe581Leu,ENST00000568704,;CYLD,missense_variant,p.Phe763Leu,ENST00000564326,;CYLD,missense_variant,p.Phe763Leu,ENST00000566206,;CYLD,upstream_gene_variant,,ENST00000562884,;CYLD,upstream_gene_variant,,ENST00000566024,;RP11-327F22.4,intron_variant,,ENST00000564510,;RP11-327F22.4,intron_variant,,ENST00000575917,;CYLD,downstream_gene_variant,,ENST00000563629,;	C	ENST00000427738	Transcript	missense_variant	2501/8503	2296/2871	766/956	F/L	Ttt/Ctt		1		1	CYLD	HGNC	HGNC:2584	protein_coding	YES	CCDS45482.1	ENSP00000392025	Q9NQC7		UPI0000073A15		deleterious(0.04)		15/18		PROSITE_profiles:PS50235,hmmpanther:PTHR11830:SF3,hmmpanther:PTHR11830,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	57	50792651	50792651	T	C	1	0	0	0	0	1	0	0	0	3946	1493	52	5		5	CYLD	16	50792651	Missense_Mutation	SNP	T	C3N-00560_TP	1156002	50792651	39545694	1031	18970											
SALL1	0	.	GRCh38	chr16	51139506	51139506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggctttccatgtcaccacCcactgaggatgaatcattgg	9	12	9	11	0	2	2	2	2	0	0	3	3	3	3	3	3	0	1	3	3	1	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2716G>T	p.Gly906Cys	p.G906C	ENST00000251020	2/3	238	146	92	266	266	0	strelka-varscan-mutect	SALL1,missense_variant,p.Gly809Cys,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Gly906Cys,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Gly809Cys,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	A	ENST00000251020	Transcript	missense_variant	2750/5146	2716/3975	906/1324	G/C	Ggt/Tgt		1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	tolerated(0.18)		2/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	51139506	51139506	C	A	1	0	0	0	0	1	0	0	0	14069	623	22	2		2	SALL1	16	51139506	Missense_Mutation	SNP	C	C3N-00560_TP	346855	51139506	39198839	1032	18971											
MT1B	0	.	GRCh38	chr16	56653070	56653070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgctgtgcctgatgttGggagagccctgctcccagac	5	9	13	14	1	0	3	0	1	0	2	1	4	1	3	4	1	4	4	4	1	0	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.189G>T	p.Leu63Phe	p.L63F	ENST00000562399	3/3	164	92	72	217	217	0	strelka-varscan-mutect	MT1B,missense_variant,p.Leu63Phe,ENST00000562399,;MT1B,3_prime_UTR_variant,,ENST00000334346,NM_005947.2;MT1F,upstream_gene_variant,,ENST00000334350,NM_005949.3;MT1F,upstream_gene_variant,,ENST00000568475,NM_001301272.1;RP11-249C24.11,downstream_gene_variant,,ENST00000568608,;MT1F,upstream_gene_variant,,ENST00000564295,;MT1CP,downstream_gene_variant,,ENST00000567054,;	T	ENST00000562399	Transcript	missense_variant	217/351	189/213	63/70	L/F	ttG/ttT		1		1	MT1B	HGNC	HGNC:7394	protein_coding			ENSP00000456056		H3BR34	UPI0000E02B21		tolerated_low_confidence(0.08)		3/3																			MODERATE		SNV	3			1										PASS		.	.												T	3	4	57	56653070	56653070	G	T	1	0	0	0	0	1	0	0	0	9882	1339	47	2		2	MT1B	16	56653070	Missense_Mutation	SNP	G	C3N-00560_TP	5513564	56653070	33685275	1033	18972											
NLRC5	0	.	GRCh38	chr16	57079572	57079572	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtaagattgacaaccAgactgccaagctcctcacct	11	10	6	14	0	1	3	1	1	0	2	3	3	3	3	5	0	3	2	5	0	3	3	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.5264A>T	p.Gln1755Leu	p.Q1755L	ENST00000262510	46/49	204	124	80	268	268	0	strelka-varscan-mutect	NLRC5,missense_variant,p.Gln1755Leu,ENST00000262510,;NLRC5,missense_variant,p.Gln1755Leu,ENST00000436936,NM_032206.4;NLRC5,missense_variant,p.Gln1726Leu,ENST00000539144,;NLRC5,3_prime_UTR_variant,,ENST00000545081,;NLRC5,3_prime_UTR_variant,,ENST00000538453,;NLRC5,3_prime_UTR_variant,,ENST00000540182,;NLRC5,3_prime_UTR_variant,,ENST00000537056,;NLRC5,non_coding_transcript_exon_variant,,ENST00000534927,;NLRC5,upstream_gene_variant,,ENST00000543103,;NLRC5,downstream_gene_variant,,ENST00000544189,;NLRC5,downstream_gene_variant,,ENST00000545349,;NLRC5,upstream_gene_variant,,ENST00000543049,;	T	ENST00000262510	Transcript	missense_variant	5489/6822	5264/5601	1755/1866	Q/L	cAg/cTg		1		1	NLRC5	HGNC	HGNC:29933	protein_coding	YES	CCDS10773.1	ENSP00000262510	Q86WI3		UPI00001AEE94		tolerated(0.12)		46/49		Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF16,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	57079572	57079572	A	T	1	0	0	0	0	1	0	0	0	10507	188	7	4		4	NLRC5	16	57079572	Missense_Mutation	SNP	A	C3N-00560_TP	426502	57079572	33258773	1034	18973											
CDH8	0	.	GRCh38	chr16	61825092	61825092	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagacaggccaccagagTgtccacccatatctttggct	9	9	8	15	0	1	2	0	0	1	2	3	2	3	2	5	2	0	1	5	2	1	2	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.755A>T	p.His252Leu	p.H252L	ENST00000577390	5/12	200	110	90	248	248	0	strelka-varscan-mutect	CDH8,missense_variant,p.His252Leu,ENST00000577390,NM_001796.4;CDH8,missense_variant,p.His252Leu,ENST00000577730,;CDH8,missense_variant,p.His252Leu,ENST00000584337,;CDH8,missense_variant,p.His252Leu,ENST00000299345,;CDH8,missense_variant,p.His252Leu,ENST00000583382,;CDH8,missense_variant,p.His252Leu,ENST00000585315,;	A	ENST00000577390	Transcript	missense_variant	1710/9721	755/2400	252/799	H/L	cAc/cTc		1		-1	CDH8	HGNC	HGNC:1767	protein_coding	YES	CCDS10802.1	ENSP00000462701	P55286		UPI0000126D9F	NM_001796.4	deleterious(0.04)		5/12		Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF273,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	61825092	61825092	T	A	1	0	0	0	0	1	0	0	0	2819	1696	59	4		4	CDH8	16	61825092	Missense_Mutation	SNP	T	C3N-00560_TP	4745520	61825092	28513253	1035	18974											
C16orf70	0	.	GRCh38	chr16	67144373	67144373	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgggcattataatttcaAcatgtgagtacacctgtctg	10	13	8	10	0	2	1	1	1	1	0	2	1	2	1	2	1	2	2	2	1	4	4	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.959A>T	p.Asn320Ile	p.N320I	ENST00000219139	11/16	106	64	42	138	138	0	strelka-varscan-mutect	C16orf70,missense_variant,p.Asn320Ile,ENST00000219139,NM_001320541.1,NM_001320540.1,NM_001320542.1,NM_025187.3;C16orf70,missense_variant,p.Asn320Ile,ENST00000569600,;C16orf70,missense_variant,p.Asn320Ile,ENST00000563853,;B3GNT9,downstream_gene_variant,,ENST00000449549,NM_033309.2;C16orf70,downstream_gene_variant,,ENST00000569914,;C16orf70,upstream_gene_variant,,ENST00000569277,;C16orf70,non_coding_transcript_exon_variant,,ENST00000567162,;	T	ENST00000219139	Transcript	missense_variant	1147/2865	959/1269	320/422	N/I	aAc/aTc		1		1	C16orf70	HGNC	HGNC:29564	protein_coding	YES	CCDS10828.1	ENSP00000219139	Q9BSU1	A0A024R6W4	UPI0000137911	NM_001320541.1,NM_001320540.1,NM_001320542.1,NM_025187.3	deleterious(0)		11/16		hmmpanther:PTHR13465,Pfam_domain:PF03676																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	67144373	67144373	A	T	1	0	0	0	0	1	0	0	0	1862	57	2	4		4	C16orf70	16	67144373	Missense_Mutation	SNP	A	C3N-00560_TP	5319281	67144373	23193972	1036	18975											
PRMT7	0	.	GRCh38	chr16	68348414	68348414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggaattattaacaaatgagGacctacagggcagaaaggtg	16	7	12	6	1	0	2	0	1	0	1	0	4	0	4	1	4	2	1	1	4	6	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1396G>T	p.Asp466Tyr	p.D466Y	ENST00000339507	14/19	83	46	37	111	111	0	strelka-varscan-mutect	PRMT7,missense_variant,p.Asp466Tyr,ENST00000339507,NM_001290018.1;PRMT7,missense_variant,p.Asp466Tyr,ENST00000441236,NM_019023.2;PRMT7,missense_variant,p.Asp416Tyr,ENST00000449359,NM_001184824.1;PRMT7,non_coding_transcript_exon_variant,,ENST00000566708,;PRMT7,downstream_gene_variant,,ENST00000564050,;PRMT7,missense_variant,p.Asp466Tyr,ENST00000568975,;PRMT7,non_coding_transcript_exon_variant,,ENST00000566687,;PRMT7,intron_variant,,ENST00000567542,;PRMT7,intron_variant,,ENST00000565356,;PRMT7,upstream_gene_variant,,ENST00000563608,;	T	ENST00000339507	Transcript	missense_variant	2226/4238	1396/2079	466/692	D/Y	Gac/Tac		1		1	PRMT7	HGNC	HGNC:25557	protein_coding	YES	CCDS10866.1	ENSP00000343103	Q9NVM4	A0A024R726	UPI0000041857	NM_001290018.1	deleterious(0.04)		14/19		PROSITE_profiles:PS51678,PIRSF_domain:PIRSF036946,Gene3D:3.40.50.150,Superfamily_domains:SSF53335																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	68348414	68348414	G	T	1	0	0	0	0	1	0	0	0	12672	1174	41	2		2	PRMT7	16	68348414	Missense_Mutation	SNP	G	C3N-00560_TP	1204041	68348414	21989931	1037	18976											
COG4	0	.	GRCh38	chr16	70496323	70496323	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttttgtgtcaaatttgccTtgctggaggctgctgtgcat	5	16	11	9	0	1	0	1	0	0	0	1	1	1	1	2	2	4	4	2	2	1	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1590A>T	p.Gln530His	p.Q530H	ENST00000323786	12/19	430	225	205	519	519	0	strelka-varscan-mutect	COG4,missense_variant,p.Gln530His,ENST00000323786,NM_015386.2;COG4,missense_variant,p.Gln530His,ENST00000393612,NM_001195139.1;COG4,3_prime_UTR_variant,,ENST00000564415,;COG4,3_prime_UTR_variant,,ENST00000482252,;COG4,non_coding_transcript_exon_variant,,ENST00000530314,;COG4,non_coding_transcript_exon_variant,,ENST00000526700,;COG4,non_coding_transcript_exon_variant,,ENST00000564315,;COG4,downstream_gene_variant,,ENST00000567244,;	A	ENST00000323786	Transcript	missense_variant	1612/2833	1590/2370	530/789	Q/H	caA/caT		1		-1	COG4	HGNC	HGNC:18620	protein_coding	YES	CCDS10892.2	ENSP00000315775		J3KNI1	UPI000059D3B0	NM_015386.2	tolerated(0.13)		12/19		hmmpanther:PTHR24016:SF0,hmmpanther:PTHR24016																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	70496323	70496323	T	A	1	0	0	0	0	1	0	0	0	3448	1606	56	4		4	COG4	16	70496323	Missense_Mutation	SNP	T	C3N-00560_TP	2147909	70496323	19842022	1038	18977											
PMFBP1	0	.	GRCh38	chr16	72136579	72136579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctcctcccgcagtccgtGcaggtccagctccagcttca	5	10	9	17	2	2	0	1	0	1	0	7	0	6	0	5	1	3	4	5	1	0	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1072C>T	p.His358Tyr	p.H358Y	ENST00000237353	9/21	158	89	69	203	203	0	strelka-varscan-mutect	PMFBP1,missense_variant,p.His358Tyr,ENST00000537465,;PMFBP1,missense_variant,p.His358Tyr,ENST00000237353,NM_031293.2;PMFBP1,missense_variant,p.His213Tyr,ENST00000355636,NM_001160213.1;PMFBP1,missense_variant,p.His161Tyr,ENST00000537392,;PMFBP1,3_prime_UTR_variant,,ENST00000379073,;	A	ENST00000237353	Transcript	missense_variant	1334/3527	1072/3024	358/1007	H/Y	Cac/Tac		1		-1	PMFBP1	HGNC	HGNC:17728	protein_coding	YES	CCDS32483.1	ENSP00000237353	Q8TBY8		UPI0000141554	NM_031293.2	deleterious(0)		9/21		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18881,hmmpanther:PTHR18881:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	72136579	72136579	G	A	1	0	0	0	0	1	0	0	0	12241	1319	46	3		3	PMFBP1	16	72136579	Missense_Mutation	SNP	G	C3N-00560_TP	1640256	72136579	18201766	1039	18978											
CMIP	0	.	GRCh38	chr16	81672024	81672024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcccaacctggtggccGtgtgcctggctgccatctac	4	10	11	16	1	1	0	0	0	1	0	2	0	2	0	6	3	5	1	6	3	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.988G>T	p.Val330Leu	p.V330L	ENST00000537098	9/21	89	50	39	133	133	0	strelka-varscan-mutect	CMIP,missense_variant,p.Val330Leu,ENST00000537098,NM_198390.2;CMIP,missense_variant,p.Val235Leu,ENST00000621537,;CMIP,missense_variant,p.Val236Leu,ENST00000539778,NM_030629.2;CMIP,missense_variant,p.Val177Leu,ENST00000398040,;CMIP,missense_variant,p.Val143Leu,ENST00000566513,;CMIP,downstream_gene_variant,,ENST00000566462,;	T	ENST00000537098	Transcript	missense_variant	1060/4357	988/2322	330/773	V/L	Gtg/Ttg		1		1	CMIP	HGNC	HGNC:24319	protein_coding	YES	CCDS54044.1	ENSP00000446100	Q8IY22		UPI00001FFCBD	NM_198390.2	tolerated(0.07)		9/21																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	81672024	81672024	G	T	1	0	0	0	0	1	0	0	0	3353	1145	40	1		1	CMIP	16	81672024	Missense_Mutation	SNP	G	C3N-00560_TP	9535445	81672024	8666321	1040	18979											
CRISPLD2	0	.	GRCh38	chr16	84873106	84873106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgaagtctgagagacacGgcgtgcagtccctcaggtaa	10	8	13	10	3	2	3	1	2	1	1	4	4	3	3	1	2	1	2	1	2	2	1	rs138350685		C3N-00560_TP	C3N-00560_NB	G	G																c.1096G>T	p.Gly366Cys	p.G366C	ENST00000262424	10/15	89	43	46	98	98	0	strelka-varscan-mutect	CRISPLD2,missense_variant,p.Gly366Cys,ENST00000262424,NM_031476.3;CRISPLD2,missense_variant,p.Gly365Cys,ENST00000567845,;CRISPLD2,missense_variant,p.Gly366Cys,ENST00000564567,;CRISPLD2,missense_variant,p.Gly209Cys,ENST00000563066,;CRISPLD2,non_coding_transcript_exon_variant,,ENST00000569262,;	T	ENST00000262424	Transcript	missense_variant	1320/4586	1096/1494	366/497	G/C	Ggc/Tgc	rs138350685	1		1	CRISPLD2	HGNC	HGNC:25248	protein_coding	YES	CCDS10949.1	ENSP00000262424	Q9H0B8	A0A140VK80	UPI00000411B0	NM_031476.3	deleterious(0)		10/15		Superfamily_domains:0039469,Gene3D:1jbiA00,Pfam_domain:PF03815,PROSITE_profiles:PS50820,SMART_domains:SM00603																	MODERATE	1	SNV	1			1										PASS		rs138350685	.												T	3	4	57	84873106	84873106	G	T	1	0	0	0	0	1	0	0	0	3684	1116	39	1		1	CRISPLD2	16	84873106	Missense_Mutation	SNP	G	C3N-00560_TP	3201082	84873106	5465239	1041	18980											
ANKRD11	0	.	GRCh38	chr16	89279435	89279435	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggagccgcgggccttGgccctggtgaccggggcagg	3	6	18	14	4	0	1	0	1	0	0	2	2	1	2	5	7	1	1	5	7	0	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.7107C>T	p.=	p.A2369A	ENST00000301030	9/13	79	59	20	107	107	0	strelka-varscan-mutect	ANKRD11,synonymous_variant,p.=,ENST00000301030,NM_013275.5,NM_001256183.1;ANKRD11,synonymous_variant,p.=,ENST00000378330,NM_001256182.1;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000623388,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;	A	ENST00000301030	Transcript	synonymous_variant	7568/9301	7107/7992	2369/2663	A	gcC/gcT		1		-1	ANKRD11	HGNC	HGNC:21316	protein_coding	YES	CCDS32513.1	ENSP00000301030	Q6UB99		UPI00004569E1	NM_013275.5,NM_001256183.1			9/13		hmmpanther:PTHR24145:SF3,hmmpanther:PTHR24145																	LOW	1	SNV	5			1										PASS		rs1430139628	.												A	2	1	57	89279435	89279435	G	A	1	0	0	0	0	0	0	0	1	740	1335	47	3		3	ANKRD11	16	89279435	Silent	SNP	G	C3N-00560_TP	4406329	89279435	1058910	1042	18981											
NXN	0	.	GRCh38	chr17	819473	819473	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccggttgaggcgcgaccgCcgggcctcatccgtgtaggg	5	6	17	13	6	1	1	1	1	0	0	2	2	2	1	5	4	1	2	5	4	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.786G>C	p.=	p.R262R	ENST00000336868	5/8	229	85	144	192	192	0	strelka-varscan-mutect	NXN,synonymous_variant,p.=,ENST00000336868,NM_022463.4;NXN,synonymous_variant,p.=,ENST00000575801,NM_001205319.1;NXN,synonymous_variant,p.=,ENST00000537628,;NXN,synonymous_variant,p.=,ENST00000571684,;NXN,downstream_gene_variant,,ENST00000577098,;NXN,downstream_gene_variant,,ENST00000571338,;NXN,non_coding_transcript_exon_variant,,ENST00000575455,;	G	ENST00000336868	Transcript	synonymous_variant	878/3036	786/1308	262/435	R	cgG/cgC		1		-1	NXN	HGNC	HGNC:18008	protein_coding	YES	CCDS10998.1	ENSP00000337443	Q6DKJ4		UPI00001B31EB	NM_022463.4			5/8		PROSITE_profiles:PS51352,hmmpanther:PTHR13871,hmmpanther:PTHR13871:SF52,Gene3D:3.40.30.10,Pfam_domain:PF13905,Superfamily_domains:SSF52833																	LOW	1	SNV	2			1										PASS		.	.												G	2	3	57	819473	819473	C	G	1	0	0	0	0	0	0	0	1	10859	726	26	4		4	NXN	17	819473	Silent	SNP	C	C3N-00560_TP		819473	82437968	1043	18982											
RTN4RL1	0	.	GRCh38	chr17	1937674	1937674	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgtccacggggatgccctCcgggatggctgcaaagttgt	6	9	15	11	2	0	0	0	0	0	0	2	2	2	2	3	4	2	4	3	4	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.148G>T	p.Glu50Ter	p.E50*	ENST00000331238	2/2	353	132	221	300	300	0	strelka-varscan-mutect	RTN4RL1,stop_gained,p.Glu50Ter,ENST00000331238,NM_178568.3;	A	ENST00000331238	Transcript	stop_gained	628/3625	148/1326	50/441	E/*	Gag/Tag		1		-1	RTN4RL1	HGNC	HGNC:21329	protein_coding	YES	CCDS45569.1	ENSP00000330631	Q86UN2		UPI000018CD23	NM_178568.3			2/2		Gene3D:3.80.10.10,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF11,Superfamily_domains:SSF52058																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	1937674	1937674	C	A	1	0	0	0	0	0	1	0	0	13991	864	30	2		2	RTN4RL1	17	1937674	Nonsense_Mutation	SNP	C	C3N-00560_TP	1118201	1937674	81319767	1044	18983											
MNT	0	.	GRCh38	chr17	2394937	2394937	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggtgccaacttcagggtCcccagcgtgggtgggggcgg	4	7	19	11	2	1	0	1	0	0	0	2	0	2	0	3	6	3	1	3	6	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.591G>T	p.=	p.G197G	ENST00000174618	2/6	288	119	169	246	245	1	strelka-varscan-mutect	MNT,synonymous_variant,p.=,ENST00000174618,NM_020310.2;MNT,intron_variant,,ENST00000575394,;MNT,upstream_gene_variant,,ENST00000575374,;MNT,downstream_gene_variant,,ENST00000574559,;MNT,upstream_gene_variant,,ENST00000572892,;MNT,downstream_gene_variant,,ENST00000571836,;MNT,upstream_gene_variant,,ENST00000571232,;MNT,upstream_gene_variant,,ENST00000575402,;	A	ENST00000174618	Transcript	synonymous_variant	997/4996	591/1749	197/582	G	ggG/ggT		1		-1	MNT	HGNC	HGNC:7188	protein_coding	YES	CCDS11018.1	ENSP00000174618	Q99583		UPI000012F2C6	NM_020310.2			2/6		hmmpanther:PTHR11969,hmmpanther:PTHR11969:SF15,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	2394937	2394937	C	A	1	0	0	0	0	0	0	0	1	9642	842	30	2		2	MNT	17	2394937	Silent	SNP	C	C3N-00560_TP	457263	2394937	80862504	1045	18984											
AIPL1	0	.	GRCh38	chr17	6427049	6427049	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccctctggtaatcactcggGgcatcaacctggccccagag	8	8	10	15	1	3	1	2	0	1	1	5	1	4	1	4	4	1	2	4	4	2	1			C3N-00560_TP	C3N-00560_NB	G	G																c.474C>A	p.=	p.A158A	ENST00000381129	4/6	375	140	235	298	297	1	strelka-varscan-mutect	AIPL1,synonymous_variant,p.=,ENST00000381129,NM_014336.4;AIPL1,synonymous_variant,p.=,ENST00000250087,NM_001033054.2;AIPL1,synonymous_variant,p.=,ENST00000575265,;AIPL1,synonymous_variant,p.=,ENST00000574506,NM_001285399.2,NM_001285402.1;AIPL1,synonymous_variant,p.=,ENST00000570466,NM_001285400.2;AIPL1,synonymous_variant,p.=,ENST00000576776,NM_001285401.2;AIPL1,synonymous_variant,p.=,ENST00000576307,NM_001033055.2;AIPL1,synonymous_variant,p.=,ENST00000574913,;AIPL1,intron_variant,,ENST00000571740,NM_001285403.2;AIPL1,intron_variant,,ENST00000570584,;AIPL1,3_prime_UTR_variant,,ENST00000381128,;	T	ENST00000381129	Transcript	synonymous_variant	555/2959	474/1155	158/384	A	gcC/gcA	COSM4397208	1		-1	AIPL1	HGNC	HGNC:359	protein_coding	YES	CCDS11075.1	ENSP00000370521	Q9NZN9	F1T0B6	UPI0000125741	NM_014336.4			4/6		Gene3D:3.10.50.40,hmmpanther:PTHR11242,hmmpanther:PTHR11242:SF2											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	57	6427049	6427049	G	T	1	0	0	0	0	0	0	0	1	513	1219	43	2		2	AIPL1	17	6427049	Silent	SNP	G	C3N-00560_TP	4032112	6427049	76830392	1046	18985											
DLG4	0	.	GRCh38	chr17	7191949	7191949	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatggggtgcaggtgggcCgcctgcagccgccgcacggc	4	4	19	14	5	0	0	0	0	0	0	0	1	0	0	4	5	3	3	4	5	0	0	rs754740263		C3N-00560_TP	C3N-00560_NB	C	C																c.2049G>T	p.=	p.A683A	ENST00000399510	20/22	32	14	18	25	25	0	strelka-varscan-mutect	DLG4,synonymous_variant,p.=,ENST00000399510,NM_001321074.1,NM_001365.3;DLG4,synonymous_variant,p.=,ENST00000399506,NM_001321076.1,NM_001321075.1;DLG4,synonymous_variant,p.=,ENST00000302955,NM_001321077.1,NM_001128827.1;CTD-2545G14.4,downstream_gene_variant,,ENST00000623840,;DLG4,non_coding_transcript_exon_variant,,ENST00000489885,;DLG4,intron_variant,,ENST00000491753,;	A	ENST00000399510	Transcript	synonymous_variant	2902/3975	2049/2304	683/767	A	gcG/gcT	rs754740263	1		-1	DLG4	HGNC	HGNC:2903	protein_coding	YES	CCDS45599.1	ENSP00000382428	P78352		UPI0000048D63	NM_001321074.1,NM_001365.3			20/22		Gene3D:3.40.50.300,Pfam_domain:PF00625,PROSITE_profiles:PS50052,hmmpanther:PTHR23119,hmmpanther:PTHR23119:SF33,SMART_domains:SM00072,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs754740263	.												A	2	1	57	7191949	7191949	C	A	1	0	0	0	0	0	0	0	1	4364	639	23	1		1	DLG4	17	7191949	Silent	SNP	C	C3N-00560_TP	764900	7191949	76065492	1047	18986											
NEURL4	0	.	GRCh38	chr17	7321739	7321739	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggtgctagtgtggtcagccCcagccgcagggaacctgccc	6	6	14	15	2	1	0	1	0	0	0	1	1	1	1	5	3	5	2	5	3	2	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2920G>T	p.Gly974Trp	p.G974W	ENST00000399464	18/29	323	123	200	212	212	0	strelka-varscan-mutect	NEURL4,missense_variant,p.Gly974Trp,ENST00000399464,NM_032442.2;NEURL4,missense_variant,p.Gly972Trp,ENST00000315614,NM_001005408.1;NEURL4,missense_variant,p.Gly950Trp,ENST00000570460,;NEURL4,missense_variant,p.Gly937Trp,ENST00000571887,;NEURL4,upstream_gene_variant,,ENST00000574120,;NEURL4,missense_variant,p.Gly719Trp,ENST00000573186,;NEURL4,3_prime_UTR_variant,,ENST00000573651,;NEURL4,non_coding_transcript_exon_variant,,ENST00000571508,;RP11-542C16.2,upstream_gene_variant,,ENST00000575474,;RP11-542C16.2,upstream_gene_variant,,ENST00000315601,;NEURL4,upstream_gene_variant,,ENST00000576794,;NEURL4,upstream_gene_variant,,ENST00000572680,;NEURL4,downstream_gene_variant,,ENST00000576966,;NEURL4,downstream_gene_variant,,ENST00000576485,;NEURL4,upstream_gene_variant,,ENST00000572029,;NEURL4,downstream_gene_variant,,ENST00000571243,;	A	ENST00000399464	Transcript	missense_variant	2936/5200	2920/4689	974/1562	G/W	Ggg/Tgg		1		-1	NEURL4	HGNC	HGNC:34410	protein_coding	YES	CCDS42251.1	ENSP00000382390	Q96JN8		UPI000020081C	NM_032442.2	deleterious(0)		18/29		PROSITE_profiles:PS51065,hmmpanther:PTHR12429:SF14,hmmpanther:PTHR12429,Pfam_domain:PF07177,SMART_domains:SM00588																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	7321739	7321739	C	A	1	0	0	0	0	1	0	0	0	10384	623	22	2		2	NEURL4	17	7321739	Missense_Mutation	SNP	C	C3N-00560_TP	129790	7321739	75935702	1048	18987											
TMEM95	0	.	GRCh38	chr17	7355213	7355213	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagtggtcctcatgtggagGctggcactaggcggggtttt	5	11	16	9	1	1	0	1	0	0	0	2	1	2	1	2	7	0	3	2	7	1	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.9G>C	p.Arg3Ser	p.R3S	ENST00000330767	1/7	260	181	79	219	219	0	strelka-varscan-mutect	TMEM95,missense_variant,p.Arg3Ser,ENST00000389982,NM_001320435.1,NM_001320436.1;TMEM95,missense_variant,p.Arg3Ser,ENST00000330767,NM_198154.1;TMEM95,missense_variant,p.Arg3Ser,ENST00000576060,;KCTD11,downstream_gene_variant,,ENST00000333751,NM_001002914.2;ACAP1,downstream_gene_variant,,ENST00000158762,NM_014716.3;ACAP1,downstream_gene_variant,,ENST00000574499,;ACAP1,downstream_gene_variant,,ENST00000571471,;ACAP1,downstream_gene_variant,,ENST00000575415,;ACAP1,downstream_gene_variant,,ENST00000570504,;RP11-542C16.1,upstream_gene_variant,,ENST00000572417,;KCTD11,downstream_gene_variant,,ENST00000576980,;ACAP1,downstream_gene_variant,,ENST00000570439,;	C	ENST00000330767	Transcript	missense_variant	36/1169	9/555	3/184	R/S	agG/agC		1		1	TMEM95	HGNC	HGNC:27898	protein_coding	YES	CCDS32546.1	ENSP00000331466	Q3KNT9		UPI00001D6946	NM_198154.1	tolerated(0.08)		1/7		Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS51257,hmmpanther:PTHR38808,hmmpanther:PTHR38808:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	7355213	7355213	G	C	1	0	0	0	0	1	0	0	0	16698	1194	42	4		4	TMEM95	17	7355213	Missense_Mutation	SNP	G	C3N-00560_TP	33474	7355213	75902228	1049	18988											
TP53	0	.	GRCh38	chr17	7675237	7675237	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgagggcaggggagtaCtgtaggaagaggaaggagac	12	7	19	3	0	0	3	0	1	0	2	0	7	0	6	0	6	1	4	0	6	4	4	rs868137297		C3N-00560_TP	C3N-00560_NB	C	C																c.376-1G>T		p.X126_splice	ENST00000269305		321	126	195	277	277	0	strelka-varscan-mutect	TP53,splice_acceptor_variant,,ENST00000617185,NM_001126114.2;TP53,splice_acceptor_variant,,ENST00000420246,;TP53,splice_acceptor_variant,,ENST00000622645,NM_001276696.1;TP53,splice_acceptor_variant,,ENST00000610292,NM_001126118.1;TP53,splice_acceptor_variant,,ENST00000455263,NM_001126113.2;TP53,splice_acceptor_variant,,ENST00000610538,NM_001276695.1;TP53,splice_acceptor_variant,,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,splice_acceptor_variant,,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,splice_acceptor_variant,,ENST00000445888,;TP53,splice_acceptor_variant,,ENST00000619485,;TP53,splice_acceptor_variant,,ENST00000359597,;TP53,splice_acceptor_variant,,ENST00000413465,;TP53,splice_acceptor_variant,,ENST00000509690,;TP53,splice_acceptor_variant,,ENST00000508793,;TP53,splice_acceptor_variant,,ENST00000503591,;TP53,splice_acceptor_variant,,ENST00000514944,;TP53,missense_variant,p.Lys114Asn,ENST00000615910,;TP53,5_prime_UTR_variant,,ENST00000510385,NM_001126116.1;TP53,5_prime_UTR_variant,,ENST00000618944,NM_001276698.1;TP53,5_prime_UTR_variant,,ENST00000504290,NM_001126117.1;TP53,5_prime_UTR_variant,,ENST00000610623,NM_001276699.1;TP53,5_prime_UTR_variant,,ENST00000504937,NM_001126115.1;TP53,5_prime_UTR_variant,,ENST00000619186,NM_001276697.1;TP53,intron_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000635293,;TP53,splice_acceptor_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	splice_acceptor_variant	-/2579	376/1182	126/393			rs868137297,TP53_g.12363del,TP53_g.12363G>A,TP53_g.12363G>T,TP53_g.12363G>C,COSM1167885,COSM1167886,COSM1167887,COSM2156353,COSM21572,COSM218536,COSM218537,COSM218538,COSM22908,COSM2744965,COSM3378369,COSM3388229,COSM4271994,COSM4271995,COSM4271996,COSM4271997,COSM4271998,COSM45364,COSM45809,COSM6900	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5				4/10												0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						HIGH	1	SNV	1		0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs751253294	.												A	5	1	57	7675237	7675237	C	A	1	0	0	0	0	0	0	1	0	16859	579	20	2		2	TP53	17	7675237	Splice_Site	SNP	C	C3N-00560_TP	320024	7675237	75582204	1050	18989											
CTC1	0	.	GRCh38	chr17	8232063	8232063	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacaaaaattacgcttcAtgagggcctccttgtggcag	11	9	11	10	1	1	1	1	1	0	0	2	2	2	2	2	3	1	2	2	3	3	3	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.2225T>A	p.Met742Lys	p.M742K	ENST00000315684	13/23	48	25	23	40	40	0	strelka-varscan-mutect	CTC1,missense_variant,p.Met742Lys,ENST00000315684,NM_025099.5;CTC1,upstream_gene_variant,,ENST00000581729,;CTC1,upstream_gene_variant,,ENST00000580299,;CTC1,downstream_gene_variant,,ENST00000581671,;CTC1,missense_variant,p.Met707Lys,ENST00000449476,;CTC1,missense_variant,p.Met41Lys,ENST00000578537,;CTC1,non_coding_transcript_exon_variant,,ENST00000578240,;CTC1,upstream_gene_variant,,ENST00000578441,;CTC1,upstream_gene_variant,,ENST00000584439,;CTC1,downstream_gene_variant,,ENST00000581967,;CTC1,downstream_gene_variant,,ENST00000579066,;CTC1,downstream_gene_variant,,ENST00000583254,;	T	ENST00000315684	Transcript	missense_variant	2233/7021	2225/3654	742/1217	M/K	aTg/aAg		1		-1	CTC1	HGNC	HGNC:26169	protein_coding	YES	CCDS42259.1	ENSP00000313759	Q2NKJ3		UPI000041A9A9	NM_025099.5	deleterious(0)		13/23		Pfam_domain:PF15489,hmmpanther:PTHR14865																	MODERATE	1	SNV	1			1										PASS		rs1351626756	.												T	3	4	57	8232063	8232063	A	T	1	0	0	0	0	1	0	0	0	3806	217	8	4		4	CTC1	17	8232063	Missense_Mutation	SNP	A	C3N-00560_TP	556826	8232063	75025378	1051	18990											
CCDC42	0	.	GRCh38	chr17	8741577	8741577	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcagcgccaccatctccTgcttgcgcttggtcagctcc	4	9	10	18	3	2	0	1	0	1	0	4	0	3	0	5	1	4	4	5	1	0	2	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.389A>T	p.Gln130Leu	p.Q130L	ENST00000293845	4/7	485	185	300	429	429	0	strelka-varscan-mutect	CCDC42,missense_variant,p.Gln130Leu,ENST00000293845,NM_144681.2;CCDC42,missense_variant,p.Gln130Leu,ENST00000539522,NM_001158261.1;CCDC42,downstream_gene_variant,,ENST00000581598,;	A	ENST00000293845	Transcript	missense_variant	616/1374	389/951	130/316	Q/L	cAg/cTg		1		-1	CCDC42	HGNC	HGNC:26528	protein_coding	YES	CCDS11145.1	ENSP00000293845	Q96M95		UPI000013E127	NM_144681.2	tolerated(0.25)		4/7		hmmpanther:PTHR21683:SF8,hmmpanther:PTHR21683,Pfam_domain:PF13863																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	8741577	8741577	T	A	1	0	0	0	0	1	0	0	0	2522	1580	55	4		4	CCDC42	17	8741577	Missense_Mutation	SNP	T	C3N-00560_TP	509514	8741577	74515864	1052	18991											
DHRS7C	0	.	GRCh38	chr17	9779905	9779905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaaatcttatgggcaggcCccttcaccttcacactggca	10	9	9	13	0	3	1	2	0	1	1	3	2	3	1	3	3	0	2	3	3	2	3			C3N-00560_TP	C3N-00560_NB	C	C																c.401G>T	p.Gly134Val	p.G134V	ENST00000330255	3/6	506	195	311	469	468	1	strelka-varscan-mutect	DHRS7C,missense_variant,p.Gly134Val,ENST00000330255,NM_001220493.1;DHRS7C,missense_variant,p.Gly133Val,ENST00000571134,NM_001105571.2;DHRS7C,missense_variant,p.Gly6Val,ENST00000571771,;RP11-477N12.6,intron_variant,,ENST00000634974,;	A	ENST00000330255	Transcript	missense_variant	414/1006	401/939	134/312	G/V	gGg/gTg	COSM4960797	1		-1	DHRS7C	HGNC	HGNC:32423	protein_coding	YES	CCDS56020.1	ENSP00000327975	A6NNS2		UPI000178DECB	NM_001220493.1	deleterious(0)		3/6		hmmpanther:PTHR24322:SF254,hmmpanther:PTHR24322,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735											1						MODERATE	1	SNV	1		1	1										PASS		rs1227994979	.												A	3	1	57	9779905	9779905	C	A	1	0	0	0	0	1	0	0	0	4301	623	22	2		2	DHRS7C	17	9779905	Missense_Mutation	SNP	C	C3N-00560_TP	1038328	9779905	73477536	1053	18992											
MYH1	0	.	GRCh38	chr17	10501313	10501313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcctccaggtccctgcGcattttctggaactcagcct	5	11	9	16	1	2	0	1	0	1	0	5	1	5	1	5	3	3	1	5	3	1	2	rs755825265		C3N-00560_TP	C3N-00560_NB	G	G																c.3535C>A	p.Arg1179Ser	p.R1179S	ENST00000226207	27/40	568	222	346	545	545	0	strelka-varscan-mutect	MYH1,missense_variant,p.Arg1179Ser,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000226207	Transcript	missense_variant	3630/6024	3535/5820	1179/1939	R/S	Cgc/Agc	rs755825265	1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3	deleterious(0.01)		27/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF454,Superfamily_domains:SSF90257																	MODERATE		SNV	5			1										PASS		rs755825265	.												T	3	4	57	10501313	10501313	G	T	1	0	0	0	0	1	0	0	0	10029	1087	38	1		1	MYH1	17	10501313	Missense_Mutation	SNP	G	C3N-00560_TP	721408	10501313	72756128	1054	18993											
SHISA6	0	.	GRCh38	chr17	11555746	11555746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttttcttgcagagaagcCacggatgaacaacatcctga	12	9	8	12	1	1	3	0	2	1	1	2	5	2	4	3	1	4	1	3	1	3	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.959C>A	p.Pro320Gln	p.P320Q	ENST00000441885	5/6	67	24	43	55	55	0	strelka-varscan-mutect	SHISA6,missense_variant,p.Pro320Gln,ENST00000441885,NM_207386.3;SHISA6,missense_variant,p.Pro301Gln,ENST00000432116,NM_001173462.1;SHISA6,missense_variant,p.Pro269Gln,ENST00000409168,NM_001173461.1;	A	ENST00000441885	Transcript	missense_variant	1119/7575	959/1656	320/551	P/Q	cCa/cAa		1		1	SHISA6	HGNC	HGNC:34491	protein_coding	YES	CCDS45615.1	ENSP00000390084	Q6ZSJ9		UPI000183CBD8	NM_207386.3	tolerated(0.1)		5/6		hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF0																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	11555746	11555746	C	A	1	0	0	0	0	1	0	0	0	14544	594	21	2		2	SHISA6	17	11555746	Missense_Mutation	SNP	C	C3N-00560_TP	1054433	11555746	71701695	1055	18994											
DNAH9	0	.	GRCh38	chr17	11608301	11608301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggctcagaaaaaatggagtTtgcggattccaaaagtgaga	16	8	12	5	1	1	2	1	1	0	2	2	5	2	4	1	3	1	2	1	3	5	2	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.590T>C	p.Phe197Ser	p.F197S	ENST00000262442	2/69	114	49	65	102	102	0	strelka-varscan-mutect	DNAH9,missense_variant,p.Phe197Ser,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Phe197Ser,ENST00000454412,;DNAH9,missense_variant,p.Phe197Ser,ENST00000579828,;DNAH9,upstream_gene_variant,,ENST00000579602,;DNAH9,upstream_gene_variant,,ENST00000579813,;DNAH9,non_coding_transcript_exon_variant,,ENST00000579406,;	C	ENST00000262442	Transcript	missense_variant	658/13750	590/13461	197/4486	F/S	tTt/tCt		1		1	DNAH9	HGNC	HGNC:2953	protein_coding	YES	CCDS11160.1	ENSP00000262442	Q9NYC9		UPI0000141BA2	NM_001372.3	tolerated(0.46)		2/69		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257																	MODERATE	1	SNV	1			1										PASS		rs757635352	.												C	3	2	57	11608301	11608301	T	C	1	0	0	0	0	1	0	0	0	4423	1841	64	5		5	DNAH9	17	11608301	Missense_Mutation	SNP	T	C3N-00560_TP	52555	11608301	71649140	1056	18995											
HS3ST3B1	0	.	GRCh38	chr17	14345391	14345391	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcatcagcgacccggccggGgagctgggccgcgtgcaaga	7	4	16	14	5	2	1	2	0	0	1	2	3	2	2	3	4	3	2	3	4	1	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.918G>T	p.=	p.G306G	ENST00000360954	2/2	67	24	43	52	52	0	strelka-varscan-mutect	HS3ST3B1,synonymous_variant,p.=,ENST00000360954,NM_006041.2;HS3ST3B1,synonymous_variant,p.=,ENST00000466596,;	T	ENST00000360954	Transcript	synonymous_variant	1354/5367	918/1173	306/390	G	ggG/ggT		1		1	HS3ST3B1	HGNC	HGNC:5198	protein_coding	YES	CCDS11167.1	ENSP00000354213	Q9Y662		UPI0000038167	NM_006041.2			2/2		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF7,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	14345391	14345391	G	T	1	0	0	0	0	0	0	0	1	7260	1219	43	2		2	HS3ST3B1	17	14345391	Silent	SNP	G	C3N-00560_TP	2737090	14345391	68912050	1057	18996											
ADORA2B	0	.	GRCh38	chr17	15945275	15945275	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagacacaggacgcgctGtacgtggcgctggagctggt	7	7	17	10	4	0	1	0	0	0	1	0	4	0	3	0	5	2	4	0	5	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.27G>T	p.=	p.L9L	ENST00000304222	1/2	37	15	22	45	45	0	strelka-varscan-mutect	ADORA2B,synonymous_variant,p.=,ENST00000304222,NM_000676.2;	T	ENST00000304222	Transcript	synonymous_variant	359/1735	27/999	9/332	L	ctG/ctT		1		1	ADORA2B	HGNC	HGNC:264	protein_coding	YES	CCDS11173.1	ENSP00000304501	P29275		UPI00000503E3	NM_000676.2			1/2		hmmpanther:PTHR24246,hmmpanther:PTHR24246:SF18,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00424																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	15945275	15945275	G	T	1	0	0	0	0	0	0	0	1	403	1364	48	2		2	ADORA2B	17	15945275	Silent	SNP	G	C3N-00560_TP	1599884	15945275	67312166	1058	18997											
MYO15A	0	.	GRCh38	chr17	18120846	18120846	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgccgccgctctccccGgcgctctcgggcctgccccg	0	5	12	24	8	2	0	0	0	2	0	4	0	2	0	8	2	1	2	8	2	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2046G>T	p.=	p.P682P	ENST00000205890	2/66	76	39	37	50	50	0	strelka-varscan-mutect	MYO15A,synonymous_variant,p.=,ENST00000205890,NM_016239.3;MYO15A,synonymous_variant,p.=,ENST00000615845,;MYO15A,non_coding_transcript_exon_variant,,ENST00000583079,;	T	ENST00000205890	Transcript	synonymous_variant	2384/11863	2046/10593	682/3530	P	ccG/ccT		1		1	MYO15A	HGNC	HGNC:7594	protein_coding	YES	CCDS42271.1	ENSP00000205890	Q9UKN7		UPI0000E59E6E	NM_016239.3			2/66		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs1284228904	.												T	2	4	57	18120846	18120846	G	T	1	0	0	0	0	0	0	0	1	10063	1103	39	1		1	MYO15A	17	18120846	Silent	SNP	G	C3N-00560_TP	2175571	18120846	65136595	1059	18998											
TOP3A	0	.	GRCh38	chr17	18302394	18302394	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagcacctcaggaaaaatCctctgaagccgcagggtctg	11	6	11	13	1	3	1	1	1	2	0	4	2	4	2	4	2	2	2	4	2	3	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.684G>T	p.Arg228Ser	p.R228S	ENST00000542570	7/19	103	56	47	116	116	0	strelka-varscan-mutect	TOP3A,missense_variant,p.Arg228Ser,ENST00000542570,NM_004618.3;TOP3A,missense_variant,p.Arg228Ser,ENST00000321105,;TOP3A,missense_variant,p.Arg203Ser,ENST00000580095,;TOP3A,downstream_gene_variant,,ENST00000584669,;TOP3A,3_prime_UTR_variant,,ENST00000584582,;TOP3A,3_prime_UTR_variant,,ENST00000582981,;TOP3A,non_coding_transcript_exon_variant,,ENST00000469739,;TOP3A,non_coding_transcript_exon_variant,,ENST00000583804,;TOP3A,downstream_gene_variant,,ENST00000472959,;TOP3A,downstream_gene_variant,,ENST00000461127,;TOP3A,upstream_gene_variant,,ENST00000581536,;TOP3A,downstream_gene_variant,,ENST00000583328,;TOP3A,downstream_gene_variant,,ENST00000585031,;	A	ENST00000542570	Transcript	missense_variant	913/4116	684/3006	228/1001	R/S	agG/agT		1		-1	TOP3A	HGNC	HGNC:11992	protein_coding	YES	CCDS11194.1	ENSP00000442336	Q13472		UPI00001371A0	NM_004618.3	deleterious(0)		7/19		hmmpanther:PTHR11390:SF21,hmmpanther:PTHR11390,Gene3D:1.10.460.10,Pfam_domain:PF01131,SMART_domains:SM00436,Superfamily_domains:SSF56712																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	18302394	18302394	C	A	1	0	0	0	0	1	0	0	0	16843	854	30	2		2	TOP3A	17	18302394	Missense_Mutation	SNP	C	C3N-00560_TP	181548	18302394	64955047	1060	18999											
LGALS9B	0	.	GRCh38	chr17	20460375	20460375	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttccactggagctgagaacGgccccattgacagtgatctg	9	9	12	11	1	1	3	0	3	1	1	2	5	2	4	3	2	2	2	3	2	1	2	rs772797556		C3N-00560_TP	C3N-00560_NB	G	G																c.108C>A	p.=	p.A36A	ENST00000324290	2/11	290	162	128	422	421	1	strelka-varscan-mutect	LGALS9B,synonymous_variant,p.=,ENST00000423676,;LGALS9B,synonymous_variant,p.=,ENST00000324290,NM_001042685.1;LGALS9B,intron_variant,,ENST00000578481,;LGALS9B,upstream_gene_variant,,ENST00000584703,;	T	ENST00000324290	Transcript	synonymous_variant	173/1243	108/1068	36/355	A	gcC/gcA	rs772797556	1		-1	LGALS9B	HGNC	HGNC:24842	protein_coding	YES	CCDS42283.1	ENSP00000315564	Q3B8N2		UPI00001AF401	NM_001042685.1			2/11		Gene3D:2.60.120.200,Pfam_domain:PF00337,PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF91,SMART_domains:SM00276,SMART_domains:SM00908,Superfamily_domains:SSF49899																	LOW	1	SNV	5			1										PASS		rs772797556	.												T	2	4	57	20460375	20460375	G	T	1	0	0	0	0	0	0	0	1	8658	1103	39	1		1	LGALS9B	17	20460375	Silent	SNP	G	C3N-00560_TP	2157981	20460375	62797066	1061	19000											
KCNJ12	0	.	GRCh38	chr17	21415660	21415660	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatcttctgggtcatcgcGgtggcacacggtgacctgga	7	10	13	11	3	4	1	2	1	2	0	5	2	4	2	1	5	0	1	1	5	0	1	rs149095815		C3N-00560_TP	C3N-00560_NB	G	G																c.318G>T	p.=	p.A106A	ENST00000583088	3/3	423	249	174	481	481	0	strelka-varscan-mutect	KCNJ12,synonymous_variant,p.=,ENST00000583088,NM_021012.4;KCNJ12,synonymous_variant,p.=,ENST00000331718,;	T	ENST00000583088	Transcript	synonymous_variant	1213/5425	318/1302	106/433	A	gcG/gcT	rs149095815	1		1	KCNJ12	HGNC	HGNC:6258	protein_coding	YES	CCDS11219.1	ENSP00000463778	Q14500		UPI00000725C7	NM_021012.4			3/3		Transmembrane_helices:TMhelix,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Pfam_domain:PF01007,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR01320																	LOW	1	SNV	1			1										PASS		rs149095815	.												T	2	4	57	21415660	21415660	G	T	1	0	0	0	0	0	0	0	1	7962	1103	39	1		1	KCNJ12	17	21415660	Silent	SNP	G	C3N-00560_TP	955285	21415660	61841781	1062	19001											
KCNJ12	0	.	GRCh38	chr17	21416627	21416627	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcagcggccctacagaCgggagtcagagatctgagcc	10	5	15	11	2	2	3	1	1	1	2	2	6	2	5	2	3	4	1	2	3	1	1	rs781867776		C3N-00560_TP	C3N-00560_NB	C	C																c.1285C>A	p.=	p.R429R	ENST00000583088	3/3	61	50	11	69	68	1	strelka-varscan-mutect	KCNJ12,synonymous_variant,p.=,ENST00000583088,NM_021012.4;KCNJ12,synonymous_variant,p.=,ENST00000331718,;	A	ENST00000583088	Transcript	synonymous_variant	2180/5425	1285/1302	429/433	R	Cgg/Agg	rs781867776	1		1	KCNJ12	HGNC	HGNC:6258	protein_coding	YES	CCDS11219.1	ENSP00000463778	Q14500		UPI00000725C7	NM_021012.4			3/3		hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14																	LOW	1	SNV	1			1										PASS		rs781867776	.												A	2	1	57	21416627	21416627	C	A	1	0	0	0	0	0	0	0	1	7962	527	19	1		1	KCNJ12	17	21416627	Silent	SNP	C	C3N-00560_TP	967	21416627	61840814	1063	19002											
FNDC8	0	.	GRCh38	chr17	35127248	35127248	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaggacctggcgctcggccCctgcccatgcccatcgaagt	6	7	12	16	3	0	1	0	1	0	0	2	3	0	2	5	3	2	1	5	3	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.416C>A	p.Pro139His	p.P139H	ENST00000158009	2/4	61	39	22	84	84	0	strelka-varscan-mutect	FNDC8,missense_variant,p.Pro139His,ENST00000158009,NM_017559.2;NLE1,downstream_gene_variant,,ENST00000586869,NM_001014445.2;NLE1,downstream_gene_variant,,ENST00000442241,NM_018096.4;NLE1,downstream_gene_variant,,ENST00000360831,;NLE1,downstream_gene_variant,,ENST00000588019,;	A	ENST00000158009	Transcript	missense_variant	531/1388	416/975	139/324	P/H	cCc/cAc		1		1	FNDC8	HGNC	HGNC:25286	protein_coding	YES	CCDS11290.1	ENSP00000158009	Q8TC99		UPI000006D671	NM_017559.2	tolerated_low_confidence(0.09)		2/4		hmmpanther:PTHR32430																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	35127248	35127248	C	A	1	0	0	0	0	1	0	0	0	5831	623	22	2		2	FNDC8	17	35127248	Missense_Mutation	SNP	C	C3N-00560_TP	13710621	35127248	48130193	1064	19003											
KRT26	0	.	GRCh38	chr17	40769971	40769971	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagacctaccctctcgttgAaccaggcttcagcatctttg	9	12	7	13	1	3	2	1	1	2	1	4	2	3	2	3	1	3	3	3	1	3	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.833T>G	p.Phe278Cys	p.F278C	ENST00000335552	4/8	316	227	89	223	223	0	strelka-varscan-mutect	KRT26,missense_variant,p.Phe278Cys,ENST00000335552,NM_181539.4;	C	ENST00000335552	Transcript	missense_variant	882/1733	833/1407	278/468	F/C	tTc/tGc		1		-1	KRT26	HGNC	HGNC:30840	protein_coding	YES	CCDS11374.1	ENSP00000334798	Q7Z3Y9		UPI0000200C8F	NM_181539.4	deleterious(0)		4/8		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF162,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		rs1429800484	.												C	3	2	57	40769971	40769971	A	C	1	0	0	0	0	1	0	0	0	8345	246	9	5		5	KRT26	17	40769971	Missense_Mutation	SNP	A	C3N-00560_TP	5642723	40769971	42487470	1065	19004											
KRT40	0	.	GRCh38	chr17	40982374	40982374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatgggcctccagatcaGatttgcacagggtcagttcc	9	9	10	13	0	2	2	2	0	0	2	4	2	4	2	4	2	1	2	4	2	0	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.620C>A	p.Ser207Tyr	p.S207Y	ENST00000377755	3/7	128	89	39	95	95	0	strelka-varscan-mutect	KRT40,missense_variant,p.Ser207Tyr,ENST00000377755,;KRT40,missense_variant,p.Ser207Tyr,ENST00000398486,NM_182497.3;KRT40,missense_variant,p.Ser207Tyr,ENST00000461923,;	T	ENST00000377755	Transcript	missense_variant	655/1812	620/1296	207/431	S/Y	tCt/tAt		1		-1	KRT40	HGNC	HGNC:26707	protein_coding	YES	CCDS42320.1	ENSP00000366984	Q6A162		UPI00003B288A		deleterious(0)		3/7		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,Prints_domain:PR01248,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF90,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		rs1165763233	.												T	3	4	57	40982374	40982374	G	T	1	0	0	0	0	1	0	0	0	8360	942	33	2		2	KRT40	17	40982374	Missense_Mutation	SNP	G	C3N-00560_TP	212403	40982374	42275067	1066	19005											
KRTAP4-16	0	.	GRCh38	chr17	41101976	41101976	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacagcagctggggtggcaGcaggtcgtcctgcagcaggt	8	6	16	11	1	0	0	0	0	0	0	2	0	1	0	1	5	5	6	1	5	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.234C>T	p.=	p.C78C	ENST00000440582	1/1	416	307	109	298	298	0	strelka-varscan-mutect	KRTAP4-16,synonymous_variant,p.=,ENST00000440582,;KRTAP4-7,intron_variant,,ENST00000612231,;KRTAP4-8,upstream_gene_variant,,ENST00000333822,NM_031960.2;KRTAP4-9,upstream_gene_variant,,ENST00000391415,NM_001146041.1;KRTAP4-9,upstream_gene_variant,,ENST00000617453,;KRTAP4-8,upstream_gene_variant,,ENST00000318329,;	A	ENST00000440582	Transcript	synonymous_variant	234/708	234/708	78/235	C	tgC/tgT		1		-1	KRTAP4-16	HGNC	HGNC:18921	protein_coding	YES		ENSP00000411198		G5E9R7	UPI0000E59F68				1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF37,Pfam_domain:PF13885																	LOW	1	SNV				1										PASS		.	.												A	2	1	57	41101976	41101976	G	A	1	0	0	0	0	0	0	0	1	8444	963	34	3		3	KRTAP4-16	17	41101976	Silent	SNP	G	C3N-00560_TP	119602	41101976	42155465	1067	19006											
KRTAP4-11	0	.	GRCh38	chr17	41118012	41118012	+	Missense_Mutation	SNP	G	G	T																															gctggagatgcagcatctggGgcggcagcaagtgggctggc																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.304C>A	p.Pro102Thr	p.P102T	ENST00000391413	1/1	561	406	155	462	462	0	strelka-varscan-mutect	KRTAP4-11,missense_variant,p.Pro102Thr,ENST00000391413,NM_001322457.1,NM_033059.3;	T	ENST00000391413	Transcript	missense_variant	349/1180	304/588	102/195	P/T	Ccc/Acc		1		-1	KRTAP4-11	HGNC	HGNC:18911	protein_coding	YES	CCDS45675.1	ENSP00000375232	Q9BYQ6		UPI00001AFBF7	NM_001322457.1,NM_033059.3	deleterious(0.04)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF1,hmmpanther:PTHR23262																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	57	41118012	41118012	G	T	1	0	0	0	0	1	0	0	0	8442	1232	43	2		2	KRTAP4-11	17	41118012	Missense_Mutation	SNP	G	C3N-00560_TP	16036	41118012	42139429	1068	19007	402	2									
KRTAP4-11	0	.	GRCh38	chr17	41118013	41118013	+	Silent	SNP	G	G	T																															ctggagatgcagcatctgggGcggcagcaagtgggctggca																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.303C>A	p.=	p.R101R	ENST00000391413	1/1	557	403	154	454	454	0	strelka-varscan-mutect	KRTAP4-11,synonymous_variant,p.=,ENST00000391413,NM_001322457.1,NM_033059.3;	T	ENST00000391413	Transcript	synonymous_variant	348/1180	303/588	101/195	R	cgC/cgA		1		-1	KRTAP4-11	HGNC	HGNC:18911	protein_coding	YES	CCDS45675.1	ENSP00000375232	Q9BYQ6		UPI00001AFBF7	NM_001322457.1,NM_033059.3			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF1,hmmpanther:PTHR23262																	LOW	1	SNV				1										PASS		.	.												T	2	4	57	41118013	41118013	G	T	1	0	0	0	0	0	0	0	1	8442	1190	42	2		2	KRTAP4-11	17	41118013	Silent	SNP	G	C3N-00560_TP	1	41118013	42139428	1069	19008	402	2									
KRTAP4-4	0	.	GRCh38	chr17	41160264	41160264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctggggcggcagcaggtgGttctgcagcaggtggtctgg	5	8	20	8	1	2	0	0	0	2	0	2	0	2	0	0	8	4	6	0	8	0	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.428C>A	p.Thr143Asn	p.T143N	ENST00000390661	1/1	321	279	42	225	225	0	strelka-mutect	KRTAP4-4,missense_variant,p.Thr143Asn,ENST00000390661,NM_032524.1;	T	ENST00000390661	Transcript	missense_variant	468/1081	428/501	143/166	T/N	aCc/aAc		1		-1	KRTAP4-4	HGNC	HGNC:16928	protein_coding	YES	CCDS11383.1	ENSP00000375076	Q9BYR3		UPI000006DEC1	NM_032524.1			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF57																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	57	41160264	41160264	G	T	1	0	0	0	0	1	0	0	0	8447	1261	44	2		2	KRTAP4-4	17	41160264	Missense_Mutation	SNP	G	C3N-00560_TP	42251	41160264	42097177	1070	19009											
KRT33A	0	.	GRCh38	chr17	41347065	41347065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttagatgcccacctgcGtggcgaaccattgctccact	7	10	10	14	2	0	1	0	0	0	1	1	2	1	1	4	1	5	2	4	1	2	2	rs151338884		C3N-00560_TP	C3N-00560_NB	G	G																c.746C>A	p.Thr249Lys	p.T249K	ENST00000007735	4/7	108	72	36	91	91	0	strelka-varscan-mutect	KRT33A,missense_variant,p.Thr249Lys,ENST00000007735,NM_004138.3;	T	ENST00000007735	Transcript	missense_variant	791/1287	746/1215	249/404	T/K	aCg/aAg	rs151338884	1		-1	KRT33A	HGNC	HGNC:6450	protein_coding	YES	CCDS11388.1	ENSP00000007735	O76009		UPI000013C503	NM_004138.3	tolerated(0.11)		4/7		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF98,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		rs151338884	.												T	3	4	57	41347065	41347065	G	T	1	0	0	0	0	1	0	0	0	8351	1159	40	1		1	KRT33A	17	41347065	Missense_Mutation	SNP	G	C3N-00560_TP	186801	41347065	41910376	1071	19010											
KRT31	0	.	GRCh38	chr17	41394934	41394934	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcagcacctggtactcCtggttctgccgctccaggtc	5	10	10	16	1	1	0	0	0	1	0	5	0	4	0	5	3	4	5	5	3	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1011G>A	p.=	p.Q337Q	ENST00000251645	6/7	502	388	114	403	403	0	strelka-varscan-mutect	KRT31,synonymous_variant,p.=,ENST00000251645,NM_002277.2;	T	ENST00000251645	Transcript	synonymous_variant	1064/1596	1011/1251	337/416	Q	caG/caA		1		-1	KRT31	HGNC	HGNC:6448	protein_coding	YES	CCDS11391.1	ENSP00000251645	Q15323		UPI000006F564	NM_002277.2			6/7		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF99,SMART_domains:SM01391,Superfamily_domains:SSF64593																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	41394934	41394934	C	T	1	0	0	0	0	0	0	0	1	8349	680	24	3		3	KRT31	17	41394934	Silent	SNP	C	C3N-00560_TP	47869	41394934	41862507	1072	19011											
KRT31	0	.	GRCh38	chr17	41395299	41395299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgttgactgtgcgtctcagCtcgatgatctccgcctggta	5	12	12	12	4	2	2	1	2	2	0	5	3	2	2	2	1	2	3	2	1	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.822G>T	p.Glu274Asp	p.E274D	ENST00000251645	5/7	354	272	82	314	314	0	strelka-varscan-mutect	KRT31,missense_variant,p.Glu274Asp,ENST00000251645,NM_002277.2;	A	ENST00000251645	Transcript	missense_variant	875/1596	822/1251	274/416	E/D	gaG/gaT		1		-1	KRT31	HGNC	HGNC:6448	protein_coding	YES	CCDS11391.1	ENSP00000251645	Q15323		UPI000006F564	NM_002277.2	tolerated(0.17)		5/7		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF99,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	41395299	41395299	C	A	1	0	0	0	0	1	0	0	0	8349	796	28	2		2	KRT31	17	41395299	Missense_Mutation	SNP	C	C3N-00560_TP	365	41395299	41862142	1073	19012											
KRT37	0	.	GRCh38	chr17	41424238	41424238	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattcagggtgtttttgcCgtaggccccacagattccga	7	11	11	12	2	1	1	1	0	0	1	2	2	2	1	5	2	1	2	5	2	1	5	rs759503740		C3N-00560_TP	C3N-00560_NB	C	C																c.286G>C	p.Gly96Arg	p.G96R	ENST00000225550	1/7	661	481	180	538	538	0	strelka-varscan-mutect	KRT37,missense_variant,p.Gly96Arg,ENST00000225550,NM_003770.4;AC003958.2,non_coding_transcript_exon_variant,,ENST00000432258,;	G	ENST00000225550	Transcript	missense_variant	286/1475	286/1350	96/449	G/R	Ggc/Cgc	rs759503740	1		-1	KRT37	HGNC	HGNC:6455	protein_coding	YES	CCDS32653.1	ENSP00000225550	O76014		UPI000000DC9A	NM_003770.4	tolerated(0.36)		1/7		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF197																	MODERATE	1	SNV	1			1										PASS		rs759503740	.												G	3	3	57	41424238	41424238	C	G	1	0	0	0	0	1	0	0	0	8356	652	23	4		4	KRT37	17	41424238	Missense_Mutation	SNP	C	C3N-00560_TP	28939	41424238	41833203	1074	19013											
KRT36	0	.	GRCh38	chr17	41489699	41489699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcccaaggccagagaGgcccgacctagcagaagaga	13	2	13	13	1	0	3	0	0	0	3	1	6	1	3	4	2	2	3	4	2	3	1	rs759806098		C3N-00560_TP	C3N-00560_NB	G	G																c.166C>A	p.Leu56Ile	p.L56I	ENST00000328119	1/7	556	393	163	475	475	0	strelka-varscan-mutect	KRT36,missense_variant,p.Leu6Ile,ENST00000393986,;KRT36,missense_variant,p.Leu56Ile,ENST00000328119,NM_003771.4;	T	ENST00000328119	Transcript	missense_variant	166/1644	166/1404	56/467	L/I	Ctc/Atc	rs759806098	1		-1	KRT36	HGNC	HGNC:6454	protein_coding	YES	CCDS11395.1	ENSP00000329165	O76013		UPI000012DAFA	NM_003771.4	tolerated(0.42)		1/7		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF193,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	41489699	41489699	G	T	1	0	0	0	0	1	0	0	0	8355	1000	35	2		2	KRT36	17	41489699	Missense_Mutation	SNP	G	C3N-00560_TP	65461	41489699	41767742	1075	19014											
ATXN7L3	0	.	GRCh38	chr17	44194622	44194622	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgatcagggcctggctgtCagtcatgtcaaagctgtcat	8	11	12	10	0	5	1	5	1	0	0	5	1	5	1	1	2	1	3	1	2	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.811G>C	p.Asp271His	p.D271H	ENST00000454077	11/12	202	147	55	168	168	0	strelka-varscan-mutect	ATXN7L3,missense_variant,p.Asp264His,ENST00000389384,NM_001098833.1;ATXN7L3,missense_variant,p.Asp271His,ENST00000454077,NM_020218.1;ATXN7L3,missense_variant,p.Asp103His,ENST00000591295,;ATXN7L3,missense_variant,p.Asp264His,ENST00000587097,;ATXN7L3,missense_variant,p.Asp46His,ENST00000590537,;TMUB2,downstream_gene_variant,,ENST00000319511,NM_177441.2;TMUB2,downstream_gene_variant,,ENST00000592825,;TMUB2,downstream_gene_variant,,ENST00000587989,;TMUB2,downstream_gene_variant,,ENST00000538716,NM_001076674.1;TMUB2,downstream_gene_variant,,ENST00000357984,NM_024107.2;TMUB2,downstream_gene_variant,,ENST00000589785,;TMUB2,downstream_gene_variant,,ENST00000589184,;TMUB2,downstream_gene_variant,,ENST00000587172,;TMUB2,downstream_gene_variant,,ENST00000446571,;TMUB2,downstream_gene_variant,,ENST00000590235,;TMUB2,downstream_gene_variant,,ENST00000589856,;TMUB2,downstream_gene_variant,,ENST00000587630,;ATXN7L3,downstream_gene_variant,,ENST00000589805,;ATXN7L3,downstream_gene_variant,,ENST00000590169,;CTB-175E5.7,upstream_gene_variant,,ENST00000586560,;ATXN7L3,non_coding_transcript_exon_variant,,ENST00000593073,;ATXN7L3,non_coding_transcript_exon_variant,,ENST00000586688,;TMUB2,downstream_gene_variant,,ENST00000587326,;TMUB2,downstream_gene_variant,,ENST00000588413,;ATXN7L3,downstream_gene_variant,,ENST00000589607,;TMUB2,downstream_gene_variant,,ENST00000587775,;ATXN7L3,downstream_gene_variant,,ENST00000591807,;ATXN7L3,downstream_gene_variant,,ENST00000587022,;	G	ENST00000454077	Transcript	missense_variant	811/3523	811/1065	271/354	D/H	Gac/Cac		1		-1	ATXN7L3	HGNC	HGNC:25416	protein_coding	YES	CCDS45697.1	ENSP00000397259	Q14CW9		UPI00001613AC	NM_020218.1	deleterious(0)		11/12		hmmpanther:PTHR15117,hmmpanther:PTHR15117:SF10																	MODERATE	1	SNV	1			1										PASS		rs1308317354	.												G	3	3	57	44194622	44194622	C	G	1	0	0	0	0	1	0	0	0	1372	826	29	4		4	ATXN7L3	17	44194622	Missense_Mutation	SNP	C	C3N-00560_TP	2704923	44194622	39062819	1076	19015											
ITGA2B	0	.	GRCh38	chr17	44375667	44375667	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcgatcccgcttgtgaTgggccgggtgaatgggggag	5	9	19	8	3	1	2	0	2	1	0	2	4	2	3	2	4	1	1	2	4	1	1	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.2651A>T	p.His884Leu	p.H884L	ENST00000262407	26/30	152	115	37	136	136	0	strelka-varscan-mutect	ITGA2B,missense_variant,p.His884Leu,ENST00000262407,NM_000419.3;ITGA2B,intron_variant,,ENST00000587295,;ITGA2B,upstream_gene_variant,,ENST00000588098,;ITGA2B,non_coding_transcript_exon_variant,,ENST00000592462,;ITGA2B,downstream_gene_variant,,ENST00000592226,;	A	ENST00000262407	Transcript	missense_variant	2683/3333	2651/3120	884/1039	H/L	cAt/cTt		1		-1	ITGA2B	HGNC	HGNC:6138	protein_coding	YES	CCDS32665.1	ENSP00000262407	P08514		UPI00001868B8	NM_000419.3	tolerated(0.11)		26/30		Low_complexity_(Seg):seg,hmmpanther:PTHR23220:SF73,hmmpanther:PTHR23220,Gene3D:1jv2A04,Pfam_domain:PF08441,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	44375667	44375667	T	A	1	0	0	0	0	1	0	0	0	7783	1464	51	4		4	ITGA2B	17	44375667	Missense_Mutation	SNP	T	C3N-00560_TP	181045	44375667	38881774	1077	19016											
ADAM11	0	.	GRCh38	chr17	44776796	44776796	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actactgtgaccatgagcagGtatgatggctgccccctgag	9	9	12	11	0	0	4	0	4	0	0	0	4	0	4	3	2	3	3	3	2	2	2	rs780946704		C3N-00560_TP	C3N-00560_NB	G	G																c.1617+1G>T		p.X539_splice	ENST00000200557		222	158	64	156	156	0	strelka-varscan-mutect	ADAM11,splice_donor_variant,,ENST00000200557,NM_001318933.1,NM_002390.4;ADAM11,splice_donor_variant,,ENST00000535346,;ADAM11,splice_donor_variant,,ENST00000355638,;ADAM11,splice_donor_variant,,ENST00000587773,;ADAM11,splice_donor_variant,,ENST00000588363,;	T	ENST00000200557	Transcript	splice_donor_variant	-/4571	1617/2310	539/769			rs780946704	1		1	ADAM11	HGNC	HGNC:189	protein_coding	YES	CCDS11486.1	ENSP00000200557	O75078		UPI000013C629	NM_001318933.1,NM_002390.4				19/26																		HIGH	1	SNV	1			1										PASS		rs780946704	.												T	5	4	57	44776796	44776796	G	T	1	0	0	0	0	0	0	1	0	279	1275	44	2		2	ADAM11	17	44776796	Splice_Site	SNP	G	C3N-00560_TP	401129	44776796	38480645	1078	19017											
MAPT	0	.	GRCh38	chr17	45996566	45996566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtcttccgccaagagcCgcctgcagacagcccccgtg	6	5	11	19	5	1	2	0	0	1	2	2	2	2	2	7	0	3	1	7	0	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1729C>A	p.Arg577Ser	p.R577S	ENST00000344290	11/15	518	401	117	458	458	0	strelka-varscan-mutect	MAPT,missense_variant,p.Arg577Ser,ENST00000344290,NM_001123066.3;MAPT,missense_variant,p.Arg559Ser,ENST00000262410,NM_016835.4;MAPT,missense_variant,p.Arg242Ser,ENST00000351559,NM_005910.5;MAPT,missense_variant,p.Arg213Ser,ENST00000340799,NM_001123067.3;MAPT,missense_variant,p.Arg242Ser,ENST00000535772,NM_001203251.1,NM_001203252.1;MAPT,missense_variant,p.Arg184Ser,ENST00000446361,NM_016834.4;MAPT,missense_variant,p.Arg577Ser,ENST00000415613,;MAPT,missense_variant,p.Arg559Ser,ENST00000571987,;MAPT,missense_variant,p.Arg242Ser,ENST00000574436,;MAPT,missense_variant,p.Arg213Ser,ENST00000420682,;MAPT,missense_variant,p.Arg242Ser,ENST00000431008,;MAPT,missense_variant,p.Arg184Ser,ENST00000334239,NM_016841.4;STH,upstream_gene_variant,,ENST00000537309,NM_001007532.2;MAPT,non_coding_transcript_exon_variant,,ENST00000570299,;MAPT,non_coding_transcript_exon_variant,,ENST00000576518,;	A	ENST00000344290	Transcript	missense_variant	2051/6816	1729/2331	577/776	R/S	Cgc/Agc		1		1	MAPT	HGNC	HGNC:6893	protein_coding	YES	CCDS45715.1	ENSP00000340820	P10636		UPI0001AE66E9	NM_001123066.3	deleterious(0)		11/15		hmmpanther:PTHR11501																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	45996566	45996566	C	A	1	0	0	0	0	1	0	0	0	9220	652	23	1		1	MAPT	17	45996566	Missense_Mutation	SNP	C	C3N-00560_TP	1219770	45996566	37260875	1079	19018											
GNGT2	0	.	GRCh38	chr17	49206768	49206768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgccatcagcttatcaGacagccacctttctccttga	9	12	5	15	0	3	2	2	1	1	1	5	2	4	2	5	0	3	1	5	0	1	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.199C>A	p.Leu67Met	p.L67M	ENST00000511277	4/4	116	73	43	73	73	0	strelka-varscan-mutect	GNGT2,missense_variant,p.Leu67Met,ENST00000511277,NM_001198756.1;GNGT2,missense_variant,p.Leu67Met,ENST00000300406,NM_031498.2,NM_001198755.1;GNGT2,missense_variant,p.Leu67Met,ENST00000515635,;GNGT2,missense_variant,p.Leu67Met,ENST00000507680,NM_001198754.1;GNGT2,missense_variant,p.Leu67Met,ENST00000511673,;GNGT2,intron_variant,,ENST00000503070,;ABI3,upstream_gene_variant,,ENST00000225941,NM_016428.2;ABI3,upstream_gene_variant,,ENST00000419580,NM_001135186.1;	T	ENST00000511277	Transcript	missense_variant	379/918	199/210	67/69	L/M	Ctg/Atg		1		-1	GNGT2	HGNC	HGNC:4412	protein_coding	YES	CCDS11545.1	ENSP00000426022	O14610		UPI000012B236	NM_001198756.1	tolerated(0.24)		4/4		Gene3D:4.10.260.10,Pfam_domain:PF00631,PROSITE_profiles:PS50058,hmmpanther:PTHR13809,hmmpanther:PTHR13809:SF28,SMART_domains:SM00224,SMART_domains:SM01224																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	57	49206768	49206768	G	T	1	0	0	0	0	1	0	0	0	6413	933	33	2		2	GNGT2	17	49206768	Missense_Mutation	SNP	G	C3N-00560_TP	3210202	49206768	34050673	1080	19019											
ZNF652	0	.	GRCh38	chr17	49317229	49317229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattctctccatagtcattgCtgtcatctgtggcctcttcc	5	16	6	14	0	5	0	2	0	3	0	8	0	7	0	3	1	1	1	3	1	1	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.497G>T	p.Ser166Ile	p.S166I	ENST00000362063	2/6	343	255	88	336	335	1	strelka-varscan-mutect	ZNF652,missense_variant,p.Ser166Ile,ENST00000362063,NM_014897.2;ZNF652,missense_variant,p.Ser166Ile,ENST00000430262,NM_001145365.1;ZNF652,intron_variant,,ENST00000508237,;	A	ENST00000362063	Transcript	missense_variant	816/5988	497/1821	166/606	S/I	aGc/aTc		1		-1	ZNF652	HGNC	HGNC:29147	protein_coding	YES	CCDS32677.1	ENSP00000354686	Q9Y2D9		UPI000006D93D	NM_014897.2	tolerated(0.11)		2/6																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	49317229	49317229	C	A	1	0	0	0	0	1	0	0	0	18638	797	28	2		2	ZNF652	17	49317229	Missense_Mutation	SNP	C	C3N-00560_TP	110461	49317229	33940212	1081	19020											
FAM117A	0	.	GRCh38	chr17	49717696	49717696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctggggcccggtgccCatcagggatatcaaggatct	9	7	15	10	1	3	0	2	0	1	0	3	3	3	3	2	6	2	1	2	6	2	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.727G>C	p.Gly243Arg	p.G243R	ENST00000240364	6/8	64	29	35	63	63	0	strelka-varscan-mutect	FAM117A,missense_variant,p.Gly243Arg,ENST00000240364,NM_030802.3;FAM117A,missense_variant,p.Gly133Arg,ENST00000511743,;FAM117A,missense_variant,p.Gly211Arg,ENST00000506156,;FAM117A,5_prime_UTR_variant,,ENST00000513602,;RP11-613C6.2,intron_variant,,ENST00000512720,;FAM117A,non_coding_transcript_exon_variant,,ENST00000514018,;FAM117A,non_coding_transcript_exon_variant,,ENST00000505159,;FAM117A,non_coding_transcript_exon_variant,,ENST00000515240,;FAM117A,non_coding_transcript_exon_variant,,ENST00000503855,;FAM117A,downstream_gene_variant,,ENST00000509347,;FAM117A,downstream_gene_variant,,ENST00000503720,;FAM117A,3_prime_UTR_variant,,ENST00000503573,;FAM117A,downstream_gene_variant,,ENST00000514841,;	G	ENST00000240364	Transcript	missense_variant	807/2365	727/1362	243/453	G/R	Ggg/Cgg		1		-1	FAM117A	HGNC	HGNC:24179	protein_coding	YES	CCDS11553.1	ENSP00000240364	Q9C073		UPI00000503DC	NM_030802.3	deleterious(0.01)		6/8		Pfam_domain:PF15388,hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	49717696	49717696	C	G	1	0	0	0	0	1	0	0	0	5268	594	21	4		4	FAM117A	17	49717696	Missense_Mutation	SNP	C	C3N-00560_TP	400467	49717696	33539745	1082	19021											
ACSF2	0	.	GRCh38	chr17	50461308	50461308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgaccggctgggcatgtggGgacctaactcctatgcatgg	7	9	15	10	1	0	1	0	1	0	0	1	2	1	2	3	5	2	3	3	5	2	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.466G>C	p.Gly156Arg	p.G156R	ENST00000427954	4/17	332	240	92	344	344	0	strelka-varscan-mutect	ACSF2,missense_variant,p.Gly156Arg,ENST00000427954,NM_001288968.1;ACSF2,missense_variant,p.Gly131Arg,ENST00000300441,NM_025149.5;ACSF2,missense_variant,p.Gly131Arg,ENST00000502667,NM_001288969.1;ACSF2,intron_variant,,ENST00000504392,NM_001288972.1,NM_001288970.1,NM_001288971.1;ACSF2,intron_variant,,ENST00000506582,;CHAD,downstream_gene_variant,,ENST00000508540,NM_001267.2;CHAD,downstream_gene_variant,,ENST00000258969,;CHAD,downstream_gene_variant,,ENST00000506187,;ACSF2,upstream_gene_variant,,ENST00000509806,;ACSF2,non_coding_transcript_exon_variant,,ENST00000570356,;ACSF2,intron_variant,,ENST00000510410,;ACSF2,upstream_gene_variant,,ENST00000506052,;ACSF2,upstream_gene_variant,,ENST00000508245,;ACSF2,upstream_gene_variant,,ENST00000507769,;ACSF2,upstream_gene_variant,,ENST00000513101,;ACSF2,downstream_gene_variant,,ENST00000503408,;ACSF2,downstream_gene_variant,,ENST00000504945,;ACSF2,upstream_gene_variant,,ENST00000510262,;	C	ENST00000427954	Transcript	missense_variant	509/2251	466/1923	156/640	G/R	Gga/Cga		1		1	ACSF2	HGNC	HGNC:26101	protein_coding	YES	CCDS74103.1	ENSP00000401831	Q96CM8		UPI00017A6F63	NM_001288968.1	deleterious(0.01)		4/17		Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095,Superfamily_domains:SSF56801																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	57	50461308	50461308	G	C	1	0	0	0	0	1	0	0	0	217	1233	43	4		4	ACSF2	17	50461308	Missense_Mutation	SNP	G	C3N-00560_TP	743612	50461308	32796133	1083	19022											
CACNA1G	0	.	GRCh38	chr17	50572622	50572622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagagccccttcatctgctCccagccacgcgagaacggca	9	6	10	16	3	2	2	1	1	1	2	3	4	3	2	4	1	4	2	4	1	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.815C>A	p.Ser272Tyr	p.S272Y	ENST00000359106	6/38	95	62	33	86	86	0	strelka-varscan-mutect	CACNA1G,missense_variant,p.Ser272Tyr,ENST00000354983,NM_198396.2;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000352832,NM_198387.2;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000359106,NM_018896.4;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000360761,NM_198382.2;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000442258,NM_198388.2;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000429973,NM_198386.2;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000507336,NM_198377.2;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000358244,NM_198376.2;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000507510,NM_198385.2;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000515765,NM_198380.2;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000515411,NM_001256324.1;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000502264,NM_198383.2;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000510115,NM_198379.2;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000514079,NM_001256325.1;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000513689,NM_001256326.1;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000515165,NM_198384.2;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000507609,NM_001256327.1;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000512389,NM_198378.2;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000514181,NM_001256328.1;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000513964,NM_001256360.1,NM_001256361.1,NM_001256330.1;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000510366,NM_001256331.1;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000514717,NM_001256332.1;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000505165,NM_001256333.1;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000507896,NM_001256334.1;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000416767,;CACNA1G,missense_variant,p.Ser154Tyr,ENST00000570567,;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000506406,;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000504076,;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000511765,;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000503436,;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000511768,;CACNA1G,missense_variant,p.Ser272Tyr,ENST00000503607,;	A	ENST00000359106	Transcript	missense_variant	815/7648	815/7134	272/2377	S/Y	tCc/tAc		1		1	CACNA1G	HGNC	HGNC:1394	protein_coding	YES	CCDS45730.1	ENSP00000352011	O43497		UPI000012727A	NM_018896.4	deleterious(0)		6/38		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	50572622	50572622	C	A	1	0	0	0	0	1	0	0	0	2232	855	30	2		2	CACNA1G	17	50572622	Missense_Mutation	SNP	C	C3N-00560_TP	111314	50572622	32684819	1084	19023											
CACNA1G	0	.	GRCh38	chr17	50606974	50606974	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgatgggctggatgctgtGggcgtggaccagcaggtagg	7	8	19	7	2	0	0	0	0	0	0	0	3	0	2	1	6	3	4	1	6	2	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4497G>T	p.=	p.V1499V	ENST00000359106	24/38	571	387	184	463	463	0	strelka-varscan-mutect	CACNA1G,synonymous_variant,p.=,ENST00000354983,NM_198396.2;CACNA1G,synonymous_variant,p.=,ENST00000352832,NM_198387.2;CACNA1G,synonymous_variant,p.=,ENST00000359106,NM_018896.4;CACNA1G,synonymous_variant,p.=,ENST00000360761,NM_198382.2;CACNA1G,synonymous_variant,p.=,ENST00000442258,NM_198388.2;CACNA1G,synonymous_variant,p.=,ENST00000429973,NM_198386.2;CACNA1G,synonymous_variant,p.=,ENST00000507336,NM_198377.2;CACNA1G,synonymous_variant,p.=,ENST00000358244,NM_198376.2;CACNA1G,synonymous_variant,p.=,ENST00000507510,NM_198385.2;CACNA1G,synonymous_variant,p.=,ENST00000515765,NM_198380.2;CACNA1G,synonymous_variant,p.=,ENST00000515411,NM_001256324.1;CACNA1G,synonymous_variant,p.=,ENST00000502264,NM_198383.2;CACNA1G,synonymous_variant,p.=,ENST00000510115,NM_198379.2;CACNA1G,synonymous_variant,p.=,ENST00000514079,NM_001256325.1;CACNA1G,synonymous_variant,p.=,ENST00000513689,NM_001256326.1;CACNA1G,synonymous_variant,p.=,ENST00000515165,NM_198384.2;CACNA1G,synonymous_variant,p.=,ENST00000507609,NM_001256327.1;CACNA1G,synonymous_variant,p.=,ENST00000512389,NM_198378.2;CACNA1G,synonymous_variant,p.=,ENST00000514181,NM_001256328.1;CACNA1G,synonymous_variant,p.=,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,synonymous_variant,p.=,ENST00000513964,NM_001256360.1,NM_001256361.1,NM_001256330.1;CACNA1G,synonymous_variant,p.=,ENST00000510366,NM_001256331.1;CACNA1G,synonymous_variant,p.=,ENST00000514717,NM_001256332.1;CACNA1G,synonymous_variant,p.=,ENST00000505165,NM_001256333.1;CACNA1G,synonymous_variant,p.=,ENST00000507896,NM_001256334.1;CACNA1G,synonymous_variant,p.=,ENST00000506520,;CACNA1G,downstream_gene_variant,,ENST00000416767,;CACNA1G,synonymous_variant,p.=,ENST00000506406,;CACNA1G,synonymous_variant,p.=,ENST00000504076,;CACNA1G,synonymous_variant,p.=,ENST00000511765,;CACNA1G,synonymous_variant,p.=,ENST00000503436,;CACNA1G,synonymous_variant,p.=,ENST00000511768,;CACNA1G,synonymous_variant,p.=,ENST00000503607,;	T	ENST00000359106	Transcript	synonymous_variant	4497/7648	4497/7134	1499/2377	V	gtG/gtT		1		1	CACNA1G	HGNC	HGNC:1394	protein_coding	YES	CCDS45730.1	ENSP00000352011	O43497		UPI000012727A	NM_018896.4			24/38		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137,Superfamily_domains:SSF81324																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	50606974	50606974	G	T	1	0	0	0	0	0	0	0	1	2232	1335	47	2		2	CACNA1G	17	50606974	Silent	SNP	G	C3N-00560_TP	34352	50606974	32650467	1085	19024											
MKS1	0	.	GRCh38	chr17	58210726	58210726	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatagccttgggctgaaacTacgagagaaaacaggaagct	15	7	11	8	1	1	2	1	1	0	1	1	5	1	3	1	2	5	2	1	2	6	3	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.959-2A>T		p.X320_splice	ENST00000393119		494	358	136	437	437	0	strelka-varscan-mutect	MKS1,splice_acceptor_variant,,ENST00000393119,NM_017777.3;MKS1,splice_acceptor_variant,,ENST00000313863,;MKS1,splice_acceptor_variant,,ENST00000537529,NM_001165927.1;MKS1,splice_acceptor_variant,,ENST00000577824,;MKS1,splice_acceptor_variant,,ENST00000585134,;MKS1,splice_acceptor_variant,,ENST00000577315,;MKS1,splice_acceptor_variant,,ENST00000393120,;MKS1,splice_acceptor_variant,,ENST00000581761,;MKS1,non_coding_transcript_exon_variant,,ENST00000579358,;MKS1,downstream_gene_variant,,ENST00000581180,;MKS1,downstream_gene_variant,,ENST00000580127,;MKS1,upstream_gene_variant,,ENST00000583577,;MKS1,downstream_gene_variant,,ENST00000578789,;	A	ENST00000393119	Transcript	splice_acceptor_variant	-/2397	959/1680	320/559				1		-1	MKS1	HGNC	HGNC:7121	protein_coding	YES	CCDS11603.2	ENSP00000376827	Q9NXB0		UPI00002010BB	NM_017777.3				10/17																		HIGH	1	SNV	1			1										PASS		rs1273591389	.												A	5	1	57	58210726	58210726	T	A	1	0	0	0	0	0	0	1	0	9577	1536	53	4		4	MKS1	17	58210726	Splice_Site	SNP	T	C3N-00560_TP	7603752	58210726	25046715	1086	19025											
MPO	0	.	GRCh38	chr17	58273466	58273466	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accctgctgagggggacacgGgggttgggttccatgggctg	5	8	19	9	1	0	1	0	1	0	0	1	2	1	2	2	6	1	4	2	6	0	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1569C>A	p.=	p.P523P	ENST00000225275	9/12	473	323	150	348	347	1	strelka-varscan-mutect	MPO,synonymous_variant,p.=,ENST00000225275,NM_000250.1;MPO,synonymous_variant,p.=,ENST00000577220,;LPO,downstream_gene_variant,,ENST00000262290,NM_006151.2;LPO,downstream_gene_variant,,ENST00000421678,NM_001160102.1;MPO,downstream_gene_variant,,ENST00000578493,;LPO,downstream_gene_variant,,ENST00000389576,;	T	ENST00000225275	Transcript	synonymous_variant	1746/3215	1569/2238	523/745	P	ccC/ccA		1		-1	MPO	HGNC	HGNC:7218	protein_coding	YES	CCDS11604.1	ENSP00000225275	P05164		UPI0000131634	NM_000250.1			9/12		PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF49,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113																	LOW	1	SNV	1			1										PASS		rs963955387	.												T	2	4	57	58273466	58273466	G	T	1	0	0	0	0	0	0	0	1	9698	1219	43	2		2	MPO	17	58273466	Silent	SNP	G	C3N-00560_TP	62740	58273466	24983975	1087	19026											
TSPOAP1	0	.	GRCh38	chr17	58316079	58316079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagatgtactcgccagctGtcagcggaagctctgcttct	7	12	11	11	2	3	1	1	0	2	1	4	2	3	2	1	1	5	5	1	1	3	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2042C>T	p.Thr681Ile	p.T681I	ENST00000343736	16/32	340	259	81	299	299	0	strelka-varscan-mutect	TSPOAP1,missense_variant,p.Thr621Ile,ENST00000268893,NM_024418.2;TSPOAP1,missense_variant,p.Thr681Ile,ENST00000343736,NM_001261835.1,NM_004758.3;TSPOAP1,upstream_gene_variant,,ENST00000585149,;	A	ENST00000343736	Transcript	missense_variant	2206/5947	2042/5574	681/1857	T/I	aCa/aTa		1		-1	TSPOAP1	HGNC	HGNC:16831	protein_coding	YES	CCDS11605.1	ENSP00000345824	O95153		UPI000013D7E3	NM_001261835.1,NM_004758.3	deleterious(0.01)		16/32		Gene3D:2.30.30.40,Pfam_domain:PF14604,PROSITE_profiles:PS50002,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF20,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	58316079	58316079	G	A	1	0	0	0	0	1	0	0	0	17163	1377	48	3		3	TSPOAP1	17	58316079	Missense_Mutation	SNP	G	C3N-00560_TP	42613	58316079	24941362	1088	19027											
HSF5	0	.	GRCh38	chr17	58488206	58488206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggagcggtagcgcgggctGttcaccaggcgccacagctt	7	7	15	12	4	1	0	1	0	0	0	1	1	1	1	2	4	3	4	2	4	1	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.69C>A	p.Asn23Lys	p.N23K	ENST00000323777	1/6	58	46	12	33	33	0	strelka-varscan-mutect	HSF5,missense_variant,p.Asn23Lys,ENST00000323777,NM_001080439.2;HSF5,missense_variant,p.Asn23Lys,ENST00000617946,;MTMR4,downstream_gene_variant,,ENST00000323456,NM_004687.4;MTMR4,downstream_gene_variant,,ENST00000579925,;MTMR4,downstream_gene_variant,,ENST00000578259,;	T	ENST00000323777	Transcript	missense_variant	179/4094	69/1791	23/596	N/K	aaC/aaA		1		-1	HSF5	HGNC	HGNC:26862	protein_coding	YES	CCDS32690.1	ENSP00000313243	Q4G112		UPI000056D414	NM_001080439.2	deleterious(0)		1/6		Gene3D:1.10.10.10,Pfam_domain:PF00447,hmmpanther:PTHR10015,hmmpanther:PTHR10015:SF138,SMART_domains:SM00415,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	58488206	58488206	G	T	1	0	0	0	0	1	0	0	0	7293	1368	48	2		2	HSF5	17	58488206	Missense_Mutation	SNP	G	C3N-00560_TP	172127	58488206	24769235	1089	19028											
RAD51C	0	.	GRCh38	chr17	58709949	58709949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggttattaaatggcctaGcccagcaaatgatcagcctt	11	11	8	11	1	1	1	1	1	0	0	2	1	1	1	3	2	3	2	3	2	5	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.796G>T	p.Ala266Ser	p.A266S	ENST00000337432	5/9	413	299	114	308	308	0	strelka-varscan-mutect	RAD51C,missense_variant,p.Ala266Ser,ENST00000337432,NM_058216.2;RAD51C,missense_variant,p.Ala266Ser,ENST00000583539,;RAD51C,missense_variant,p.Ala146Ser,ENST00000413590,;RAD51C,missense_variant,p.Ala31Ser,ENST00000584804,;RAD51C,downstream_gene_variant,,ENST00000461271,;RAD51C,downstream_gene_variant,,ENST00000425173,;RAD51C,downstream_gene_variant,,ENST00000487921,;RAD51C,3_prime_UTR_variant,,ENST00000475762,;RAD51C,3_prime_UTR_variant,,ENST00000487525,;RAD51C,3_prime_UTR_variant,,ENST00000482007,;RAD51C,3_prime_UTR_variant,,ENST00000584617,;RAD51C,non_coding_transcript_exon_variant,,ENST00000581221,;RAD51C,non_coding_transcript_exon_variant,,ENST00000578151,;	T	ENST00000337432	Transcript	missense_variant	867/2591	796/1131	266/376	A/S	Gcc/Tcc		1		1	RAD51C	HGNC	HGNC:9820	protein_coding	YES	CCDS11611.1	ENSP00000336701	O43502		UPI0000133007	NM_058216.2	tolerated(0.17)		5/9		PROSITE_profiles:PS50162,hmmpanther:PTHR22942:SF14,hmmpanther:PTHR22942,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005856,Pfam_domain:PF08423,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	58709949	58709949	G	T	1	0	0	0	0	1	0	0	0	13150	971	34	2		2	RAD51C	17	58709949	Missense_Mutation	SNP	G	C3N-00560_TP	221743	58709949	24547492	1090	19029											
TRIM37	0	.	GRCh38	chr17	59070949	59070949	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttactacaagaccgcaacTgtgtgaggaaaaaaattatc	16	10	7	8	1	1	2	0	1	1	1	2	3	1	3	1	1	3	1	1	1	8	3	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.685-2A>T		p.X229_splice	ENST00000262294		211	155	56	217	217	0	strelka-varscan-mutect	TRIM37,splice_acceptor_variant,,ENST00000262294,NM_015294.3;TRIM37,splice_acceptor_variant,,ENST00000393066,NM_001005207.2;TRIM37,splice_acceptor_variant,,ENST00000393065,;TRIM37,splice_acceptor_variant,,ENST00000581468,;TRIM37,splice_acceptor_variant,,ENST00000577554,NM_001320990.1;TRIM37,splice_acceptor_variant,,ENST00000582852,;TRIM37,downstream_gene_variant,,ENST00000580973,;	A	ENST00000262294	Transcript	splice_acceptor_variant	-/4330	685/2895	229/964				1		-1	TRIM37	HGNC	HGNC:7523	protein_coding	YES	CCDS32694.1	ENSP00000262294	O94972		UPI0000167B57	NM_015294.3				8/23																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	57	59070949	59070949	T	A	1	0	0	0	0	0	0	1	0	17000	1594	55	4		4	TRIM37	17	59070949	Splice_Site	SNP	T	C3N-00560_TP	361000	59070949	24186492	1091	19030											
USP32	0	.	GRCh38	chr17	60219751	60219751	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagatagcggggaaataattCcagctctgggatgtctgtct	11	11	12	7	1	3	1	0	0	3	1	4	3	4	3	1	3	2	1	1	3	4	3	rs768692573		C3N-00560_TP	C3N-00560_NB	C	C																c.1786G>T	p.Glu596Ter	p.E596*	ENST00000300896	16/34	125	66	59	141	141	0	strelka-varscan-mutect	USP32,stop_gained,p.Glu596Ter,ENST00000300896,NM_032582.3;USP32,stop_gained,p.Glu266Ter,ENST00000592339,;USP32,stop_gained,p.Glu593Ter,ENST00000590133,;USP32,stop_gained,p.Glu127Ter,ENST00000591768,;USP32,3_prime_UTR_variant,,ENST00000589552,;USP32,non_coding_transcript_exon_variant,,ENST00000587651,;	A	ENST00000300896	Transcript	stop_gained	1981/5171	1786/4815	596/1604	E/*	Gaa/Taa	rs768692573	1		-1	USP32	HGNC	HGNC:19143	protein_coding	YES	CCDS32697.1	ENSP00000300896	Q8NFA0		UPI0000047AF8	NM_032582.3			16/34		Gene3D:3jyuB01																	HIGH	1	SNV	1			1										PASS		rs768692573	.												A	4	1	57	60219751	60219751	C	A	1	0	0	0	0	0	1	0	0	17605	864	30	2		2	USP32	17	60219751	Nonsense_Mutation	SNP	C	C3N-00560_TP	1148802	60219751	23037690	1092	19031											
RGS9	0	.	GRCh38	chr17	65225120	65225120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccaggaagcctttcgcctCacccagccgcttcatccggc	6	7	8	20	3	2	0	2	0	0	0	4	1	3	1	7	2	2	1	7	2	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1526C>T	p.Ser509Leu	p.S509L	ENST00000262406	18/19	152	76	76	206	206	0	strelka-varscan-mutect	RGS9,missense_variant,p.Ser506Leu,ENST00000449996,NM_001081955.2;RGS9,missense_variant,p.Ser509Leu,ENST00000262406,NM_003835.3;RGS9,missense_variant,p.Ser509Leu,ENST00000635833,;RGS9,missense_variant,p.Ser506Leu,ENST00000443584,NM_001165933.1;RGS9,3_prime_UTR_variant,,ENST00000584234,;RGS9,non_coding_transcript_exon_variant,,ENST00000577595,;	T	ENST00000262406	Transcript	missense_variant	1593/2375	1526/2025	509/674	S/L	tCa/tTa		1		1	RGS9	HGNC	HGNC:10004	protein_coding	YES	CCDS42373.1	ENSP00000262406	O75916		UPI000013382A	NM_003835.3	tolerated_low_confidence(0.11)		18/19		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF170																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	65225120	65225120	C	T	1	0	0	0	0	1	0	0	0	13484	838	29	3		3	RGS9	17	65225120	Missense_Mutation	SNP	C	C3N-00560_TP	5005369	65225120	18032321	1093	19032											
SDK2	0	.	GRCh38	chr17	73394245	73394245	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccgttgcgatcagcctcGgggacctcgctccagcgcac	6	6	12	17	5	1	0	1	0	0	0	4	2	2	1	4	2	4	3	4	2	0	1	rs371857762		C3N-00560_TP	C3N-00560_NB	G	G																c.3672C>G	p.=	p.P1224P	ENST00000392650	26/45	34	17	17	52	52	0	strelka-varscan-mutect	SDK2,synonymous_variant,p.=,ENST00000392650,NM_001144952.1;SDK2,synonymous_variant,p.=,ENST00000424778,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;	C	ENST00000392650	Transcript	synonymous_variant	3673/10723	3672/6519	1224/2172	P	ccC/ccG	rs371857762	1		-1	SDK2	HGNC	HGNC:19308	protein_coding	YES	CCDS45769.1	ENSP00000376421	Q58EX2		UPI0000E5A088	NM_001144952.1			26/45		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF37,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	5			1										PASS		rs371857762	.												C	2	2	57	73394245	73394245	G	C	1	0	0	0	0	0	0	0	1	14244	1103	39	4		4	SDK2	17	73394245	Silent	SNP	G	C3N-00560_TP	8169125	73394245	9863196	1094	19033											
KIF19	0	.	GRCh38	chr17	74353506	74353506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccacaggccccggctcagGacagcctgggcagctggatc	7	4	13	17	1	1	0	1	0	0	0	2	2	1	2	5	5	2	3	5	5	0	0	rs753223269		C3N-00560_TP	C3N-00560_NB	G	G																c.2233G>T	p.Asp745Tyr	p.D745Y	ENST00000389916	17/20	258	148	110	308	308	0	strelka-varscan-mutect	KIF19,missense_variant,p.Asp745Tyr,ENST00000389916,NM_153209.3;KIF19,downstream_gene_variant,,ENST00000551294,;BTBD17,downstream_gene_variant,,ENST00000375366,NM_001080466.1;KIF19,downstream_gene_variant,,ENST00000547389,;KIF19,downstream_gene_variant,,ENST00000359939,;KIF19,downstream_gene_variant,,ENST00000549637,;	T	ENST00000389916	Transcript	missense_variant	2371/3643	2233/2997	745/998	D/Y	Gac/Tac	rs753223269	1		1	KIF19	HGNC	HGNC:26735	protein_coding	YES	CCDS32718.2	ENSP00000374566	Q2TAC6		UPI0000F0A553	NM_153209.3	tolerated(0.08)		17/20																			MODERATE		SNV	5			1										PASS		rs753223269	.												T	3	4	57	74353506	74353506	G	T	1	0	0	0	0	1	0	0	0	8146	1174	41	2		2	KIF19	17	74353506	Missense_Mutation	SNP	G	C3N-00560_TP	959261	74353506	8903935	1095	19034											
TSEN54	0	.	GRCh38	chr17	75521906	75521906	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccggccagggagggggtGgggtgcagctgggagagtgg	5	4	25	7	1	0	1	0	0	0	1	0	3	0	2	2	9	2	2	2	9	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.825G>T	p.=	p.V275V	ENST00000333213	8/11	257	133	124	275	275	0	strelka-varscan-mutect	TSEN54,synonymous_variant,p.=,ENST00000333213,NM_207346.2;LLGL2,upstream_gene_variant,,ENST00000392550,NM_001031803.1;LLGL2,upstream_gene_variant,,ENST00000167462,NM_004524.2;LLGL2,upstream_gene_variant,,ENST00000578363,;LLGL2,upstream_gene_variant,,ENST00000375227,NM_001015002.1;TSEN54,upstream_gene_variant,,ENST00000545228,;TSEN54,downstream_gene_variant,,ENST00000434205,;LLGL2,upstream_gene_variant,,ENST00000580578,;LLGL2,upstream_gene_variant,,ENST00000579392,;TSEN54,downstream_gene_variant,,ENST00000580013,;TSEN54,3_prime_UTR_variant,,ENST00000578415,;TSEN54,intron_variant,,ENST00000583173,;TSEN54,upstream_gene_variant,,ENST00000579449,;TSEN54,downstream_gene_variant,,ENST00000583818,;TSEN54,downstream_gene_variant,,ENST00000583454,;TSEN54,upstream_gene_variant,,ENST00000577197,;TSEN54,downstream_gene_variant,,ENST00000583634,;	T	ENST00000333213	Transcript	synonymous_variant	861/1944	825/1581	275/526	V	gtG/gtT		1		1	TSEN54	HGNC	HGNC:27561	protein_coding	YES	CCDS11724.1	ENSP00000327487	Q7Z6J9		UPI00001C1FD2	NM_207346.2			8/11		hmmpanther:PTHR21027																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	75521906	75521906	G	T	1	0	0	0	0	0	0	0	1	17120	1335	47	2		2	TSEN54	17	75521906	Silent	SNP	G	C3N-00560_TP	1168400	75521906	7735535	1096	19035											
MRPL38	0	.	GRCh38	chr17	75902025	75902025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgagaaggcttacctgtgCggaggcgggcagcccgctcc	6	6	15	14	3	0	1	0	1	0	1	1	3	1	2	4	4	3	3	4	4	2	1	rs200385750		C3N-00560_TP	C3N-00560_NB	C	C																c.377G>T	p.Arg126Leu	p.R126L	ENST00000309352	3/9	105	59	46	113	113	0	strelka-varscan-mutect	MRPL38,missense_variant,p.Arg126Leu,ENST00000309352,NM_032478.3;RP11-552F3.10,downstream_gene_variant,,ENST00000587267,;MRPL38,non_coding_transcript_exon_variant,,ENST00000585475,;MRPL38,downstream_gene_variant,,ENST00000410030,;MRPL38,upstream_gene_variant,,ENST00000480203,;MRPL38,upstream_gene_variant,,ENST00000588620,;MRPL38,upstream_gene_variant,,ENST00000477023,;RP11-552F3.12,3_prime_UTR_variant,,ENST00000590947,;RP11-552F3.12,non_coding_transcript_exon_variant,,ENST00000593156,;MRPL38,non_coding_transcript_exon_variant,,ENST00000493104,;MRPL38,non_coding_transcript_exon_variant,,ENST00000461602,;MRPL38,non_coding_transcript_exon_variant,,ENST00000494179,;MRPL38,non_coding_transcript_exon_variant,,ENST00000477736,;MRPL38,non_coding_transcript_exon_variant,,ENST00000464758,;MRPL38,non_coding_transcript_exon_variant,,ENST00000493383,;MRPL38,non_coding_transcript_exon_variant,,ENST00000474548,;MRPL38,upstream_gene_variant,,ENST00000486101,;MRPL38,upstream_gene_variant,,ENST00000477371,;MRPL38,upstream_gene_variant,,ENST00000471434,;RP11-552F3.12,downstream_gene_variant,,ENST00000587556,;MRPL38,upstream_gene_variant,,ENST00000483393,;	A	ENST00000309352	Transcript	missense_variant	915/1888	377/1143	126/380	R/L	cGc/cTc	rs200385750,COSM5513362	1		-1	MRPL38	HGNC	HGNC:14033	protein_coding	YES	CCDS11733.2	ENSP00000308275	Q96DV4		UPI0000038D66	NM_032478.3	tolerated(0.1)		3/9		hmmpanther:PTHR11362,hmmpanther:PTHR11362:SF6											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs200385750	.												A	3	1	57	75902025	75902025	C	A	1	0	0	0	0	1	0	0	0	9776	782	27	1		1	MRPL38	17	75902025	Missense_Mutation	SNP	C	C3N-00560_TP	380119	75902025	7355416	1097	19036											
RPTOR	0	.	GRCh38	chr17	80923558	80923558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccaagcagccggtcaGccgagacttgccttctggcc	6	8	13	14	2	2	1	1	0	1	1	2	2	2	1	5	3	4	1	5	3	1	2	rs780000343		C3N-00560_TP	C3N-00560_NB	G	G																c.2693G>T	p.Ser898Ile	p.S898I	ENST00000306801	23/34	287	153	134	329	329	0	strelka-varscan-mutect	RPTOR,missense_variant,p.Ser898Ile,ENST00000306801,NM_020761.2;RPTOR,missense_variant,p.Ser740Ile,ENST00000544334,NM_001163034.1;RPTOR,missense_variant,p.Ser58Ile,ENST00000576366,;RPTOR,non_coding_transcript_exon_variant,,ENST00000575542,;	T	ENST00000306801	Transcript	missense_variant	3055/6408	2693/4008	898/1335	S/I	aGc/aTc	rs780000343	1		1	RPTOR	HGNC	HGNC:30287	protein_coding	YES	CCDS11773.1	ENSP00000307272	Q8N122		UPI000007000F	NM_020761.2	deleterious(0.02)		23/34		hmmpanther:PTHR12848																	MODERATE	1	SNV	1			1										PASS		rs780000343	.												T	3	4	57	80923558	80923558	G	T	1	0	0	0	0	1	0	0	0	13920	971	34	2		2	RPTOR	17	80923558	Missense_Mutation	SNP	G	C3N-00560_TP	5021533	80923558	2333883	1098	19037											
BAHCC1	0	.	GRCh38	chr17	81447569	81447569	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctggaggaagacgagctgGggcagcagagcatggaggac	12	3	19	7	1	0	2	0	0	0	2	0	7	0	6	0	6	4	5	0	6	1	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3790G>C	p.Gly1264Arg	p.G1264R	ENST00000584436	12/29	272	138	134	281	281	0	strelka-varscan-mutect	BAHCC1,missense_variant,p.Gly1264Arg,ENST00000584436,NM_001291324.1;BAHCC1,missense_variant,p.Gly1233Arg,ENST00000307745,;MIR3186,downstream_gene_variant,,ENST00000577404,;BAHCC1,downstream_gene_variant,,ENST00000585224,;	C	ENST00000584436	Transcript	missense_variant	4157/10801	3790/7920	1264/2639	G/R	Ggg/Cgg		1		1	BAHCC1	HGNC	HGNC:29279	protein_coding	YES	CCDS74173.1	ENSP00000462154		A0A075B747	UPI0003EAE637	NM_001291324.1	tolerated(0.45)		12/29		Low_complexity_(Seg):seg,hmmpanther:PTHR12505:SF22,hmmpanther:PTHR12505																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	57	81447569	81447569	G	C	1	0	0	0	0	1	0	0	0	1451	1232	43	4		4	BAHCC1	17	81447569	Missense_Mutation	SNP	G	C3N-00560_TP	524011	81447569	1809872	1099	19038											
ADCYAP1	0	.	GRCh38	chr18	907764	907764	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgccgcgcgccgccgcCgcctggtaccgcccggccgg	1	3	15	22	11	0	0	0	0	0	0	1	0	1	0	9	3	1	1	9	3	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.216C>A	p.=	p.A72A	ENST00000579794	2/4	193	140	53	104	104	0	strelka-varscan-mutect	ADCYAP1,synonymous_variant,p.=,ENST00000579794,NM_001117.4;ADCYAP1,synonymous_variant,p.=,ENST00000450565,NM_001099733.1;RP11-672L10.2,upstream_gene_variant,,ENST00000582921,;RP11-672L10.2,upstream_gene_variant,,ENST00000581719,;RP11-672L10.2,upstream_gene_variant,,ENST00000577358,;RP11-672L10.2,upstream_gene_variant,,ENST00000580612,;RP11-672L10.3,upstream_gene_variant,,ENST00000582554,;ADCYAP1,non_coding_transcript_exon_variant,,ENST00000269200,;ADCYAP1,upstream_gene_variant,,ENST00000581602,;	A	ENST00000579794	Transcript	synonymous_variant	494/3346	216/531	72/176	A	gcC/gcA		1		1	ADCYAP1	HGNC	HGNC:241	protein_coding	YES	CCDS11825.1	ENSP00000462647	P18509		UPI000013D805	NM_001117.4			2/4		Low_complexity_(Seg):seg,hmmpanther:PTHR11213:SF1,hmmpanther:PTHR11213																	LOW	1	SNV	1			1										PASS		rs1298234471	.												A	2	1	57	907764	907764	C	A	1	0	0	0	0	0	0	0	1	346	639	23	1		1	ADCYAP1	18	907764	Silent	SNP	C	C3N-00560_TP		907764	79465521	1100	19039											
LPIN2	0	.	GRCh38	chr18	2960689	2960689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcccagctttccaaacCgaacgtgaaaaggtgaacac	14	6	9	12	2	0	2	0	2	0	0	2	4	2	3	3	2	4	1	3	2	5	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.152G>T	p.Arg51Leu	p.R51L	ENST00000261596	2/20	526	451	75	379	378	1	strelka-varscan-mutect	LPIN2,missense_variant,p.Arg51Leu,ENST00000261596,NM_014646.2;LPIN2,missense_variant,p.Arg51Leu,ENST00000584294,;LPIN2,missense_variant,p.Arg88Leu,ENST00000584915,;RP11-737O24.2,non_coding_transcript_exon_variant,,ENST00000584431,;	A	ENST00000261596	Transcript	missense_variant	391/6229	152/2691	51/896	R/L	cGg/cTg		1		-1	LPIN2	HGNC	HGNC:14450	protein_coding	YES	CCDS11829.1	ENSP00000261596	Q92539		UPI000012E865	NM_014646.2	deleterious(0)		2/20		hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF11,Pfam_domain:PF04571																	MODERATE	1	SNV	1			1										PASS		rs1264741042	.												A	3	1	57	2960689	2960689	C	A	1	0	0	0	0	1	0	0	0	8819	652	23	1		1	LPIN2	18	2960689	Missense_Mutation	SNP	C	C3N-00560_TP	2052925	2960689	77412596	1101	19040											
LAMA1	0	.	GRCh38	chr18	7049158	7049158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcattgagcgttctaatgcGttgcaagcgaaggcgaatat	11	11	12	7	4	1	1	0	1	1	0	1	3	1	1	0	1	5	4	0	1	5	5	rs200844421		C3N-00560_TP	C3N-00560_NB	G	G																c.688C>A	p.Arg230Ser	p.R230S	ENST00000389658	5/63	279	170	109	404	404	0	strelka-varscan-mutect	LAMA1,missense_variant,p.Arg230Ser,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	T	ENST00000389658	Transcript	missense_variant	782/9657	688/9228	230/3075	R/S	Cgc/Agc	rs200844421,COSM287127	1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	deleterious(0)		5/63		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299,SMART_domains:SM00136											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs200844421	.												T	3	4	57	7049158	7049158	G	T	1	0	0	0	0	1	0	0	0	8509	1145	40	1		1	LAMA1	18	7049158	Missense_Mutation	SNP	G	C3N-00560_TP	4088469	7049158	73324127	1102	19041											
PTPRM	0	.	GRCh38	chr18	7888212	7888212	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgcatcgattttcactaTtttgtgtccagcaagagtaa	11	14	7	9	1	1	1	1	0	0	1	3	2	2	1	1	0	2	3	1	0	3	6	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.303T>A	p.Tyr101Ter	p.Y101*	ENST00000580170	3/33	359	297	62	272	272	0	strelka-varscan-mutect	PTPRM,stop_gained,p.Tyr101Ter,ENST00000332175,NM_002845.3;PTPRM,stop_gained,p.Tyr101Ter,ENST00000580170,NM_001105244.1;PTPRM,stop_gained,p.Tyr39Ter,ENST00000400053,;PTPRM,5_prime_UTR_variant,,ENST00000400060,;	A	ENST00000580170	Transcript	stop_gained	1340/5941	303/4398	101/1465	Y/*	taT/taA		1		1	PTPRM	HGNC	HGNC:9675	protein_coding	YES	CCDS58613.1	ENSP00000463325	P28827		UPI00015CFC03	NM_001105244.1			3/33		Pfam_domain:PF00629,Prints_domain:PR00020,PROSITE_patterns:PS00740,PROSITE_profiles:PS50060,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206,SMART_domains:SM00137,Superfamily_domains:SSF49899																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	7888212	7888212	T	A	1	0	0	0	0	0	1	0	0	12960	1500	52	4		4	PTPRM	18	7888212	Nonsense_Mutation	SNP	T	C3N-00560_TP	839054	7888212	72485073	1103	19042											
CEP192	0	.	GRCh38	chr18	13049436	13049436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtagttgatgtgaagacatGttccattgacaacaaattac	15	12	8	6	0	0	4	0	3	0	1	1	4	1	4	1	0	2	3	1	0	5	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2645G>T	p.Cys882Phe	p.C882F	ENST00000506447	16/45	163	122	41	189	189	0	strelka-varscan-mutect	CEP192,missense_variant,p.Cys882Phe,ENST00000506447,NM_032142.3;CEP192,missense_variant,p.Cys407Phe,ENST00000325971,;CEP192,missense_variant,p.Cys421Phe,ENST00000511820,;CEP192,missense_variant,p.Cys623Phe,ENST00000589596,;CEP192,missense_variant,p.Cys482Phe,ENST00000510237,;CEP192,3_prime_UTR_variant,,ENST00000513432,;	T	ENST00000506447	Transcript	missense_variant	2725/7960	2645/7614	882/2537	C/F	tGt/tTt		1		1	CEP192	HGNC	HGNC:25515	protein_coding	YES	CCDS32792.2	ENSP00000427550	Q8TEP8		UPI0001B09235	NM_032142.3	tolerated(0.69)		16/45		hmmpanther:PTHR16029,hmmpanther:PTHR16029:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	13049436	13049436	G	T	1	0	0	0	0	1	0	0	0	2967	1377	48	2		2	CEP192	18	13049436	Missense_Mutation	SNP	G	C3N-00560_TP	5161224	13049436	67323849	1104	19043											
FAM210A	0	.	GRCh38	chr18	13681799	13681799	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcactggatgaaaaaaccctCctgaatgaaacatgttgctt	14	10	8	9	0	0	3	0	3	0	0	1	4	1	4	2	1	3	3	2	1	5	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.279G>T	p.Arg93Ser	p.R93S	ENST00000322247	3/5	460	335	125	467	467	0	strelka-varscan-mutect	FAM210A,missense_variant,p.Arg93Ser,ENST00000322247,;FAM210A,missense_variant,p.Arg93Ser,ENST00000402563,NM_001098801.1,NM_152352.3;FAM210A,missense_variant,p.Arg93Ser,ENST00000592976,;FAM210A,missense_variant,p.Arg93Ser,ENST00000591269,;FAM210A,non_coding_transcript_exon_variant,,ENST00000588475,;FAM210A,intron_variant,,ENST00000585785,;	A	ENST00000322247	Transcript	missense_variant	667/4340	279/819	93/272	R/S	agG/agT		1		-1	FAM210A	HGNC	HGNC:28346	protein_coding	YES	CCDS11866.1	ENSP00000323635	Q96ND0		UPI000006D5B2		tolerated(0.13)		3/5		hmmpanther:PTHR21377,hmmpanther:PTHR21377:SF1																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	13681799	13681799	C	A	1	0	0	0	0	1	0	0	0	5396	854	30	2		2	FAM210A	18	13681799	Missense_Mutation	SNP	C	C3N-00560_TP	632363	13681799	66691486	1105	19044											
POTEC	0	.	GRCh38	chr18	14522254	14522254	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgttgccataggcttacCtgtgatactcttcattctca	10	15	6	10	0	3	1	2	1	2	0	4	1	3	1	2	1	3	2	2	1	4	6	rs556974559		C3N-00560_TP	C3N-00560_NB	C	C																c.1409G>T	p.Ser470Ile	p.S470I	ENST00000358970	9/11	47	33	14	62	62	0	strelka-varscan-mutect	POTEC,missense_variant,p.Ser470Ile,ENST00000358970,NM_001137671.1;POTEC,splice_region_variant,,ENST00000511306,;	A	ENST00000358970	Transcript	missense_variant,splice_region_variant	1409/1629	1409/1629	470/542	S/I	aGt/aTt	rs556974559	1		-1	POTEC	HGNC	HGNC:33894	protein_coding	YES	CCDS45835.1	ENSP00000351856	B2RU33		UPI0000197B83	NM_001137671.1	deleterious(0.02)		9/11		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF38																	MODERATE	1	SNV	1			1										PASS		rs556974559	.												A	3	1	57	14522254	14522254	C	A	1	0	0	0	0	1	0	0	0	12376	695	24	2		2	POTEC	18	14522254	Missense_Mutation	SNP	C	C3N-00560_TP	840455	14522254	65851031	1106	19045											
LAMA3	0	.	GRCh38	chr18	23928232	23928232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaccaaaaagtgctcggaaGactggaaggtaagtgaaagt	17	7	12	5	1	0	2	0	1	0	1	1	4	0	4	1	3	2	2	1	3	7	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.8287G>A	p.Asp2763Asn	p.D2763N	ENST00000313654	63/75	518	358	160	391	391	0	strelka-varscan-mutect	LAMA3,missense_variant,p.Asp2763Asn,ENST00000313654,NM_198129.2;LAMA3,missense_variant,p.Asp2707Asn,ENST00000399516,NM_001127717.2;LAMA3,missense_variant,p.Asp1154Asn,ENST00000269217,NM_000227.4;LAMA3,missense_variant,p.Asp1098Asn,ENST00000587184,NM_001127718.2;LAMA3,missense_variant,p.Asp1023Asn,ENST00000586751,;LAMA3,upstream_gene_variant,,ENST00000588164,;LAMA3,non_coding_transcript_exon_variant,,ENST00000588770,;LAMA3,upstream_gene_variant,,ENST00000592442,;	A	ENST00000313654	Transcript	missense_variant	8528/10661	8287/10002	2763/3333	D/N	Gac/Aac		1		1	LAMA3	HGNC	HGNC:6483	protein_coding	YES	CCDS42419.1	ENSP00000324532	Q16787		UPI000035154D	NM_198129.2	deleterious(0.02)		63/75		Gene3D:2.60.120.200,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF285,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	23928232	23928232	G	A	1	0	0	0	0	1	0	0	0	8511	942	33	3		3	LAMA3	18	23928232	Missense_Mutation	SNP	G	C3N-00560_TP	9405978	23928232	56445053	1107	19046											
KCTD1	0	.	GRCh38	chr18	26501128	26501128	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgtacatgtggccgccCacatcaatgtggacaggcgc	8	8	13	12	2	1	0	1	0	0	0	1	1	1	1	2	4	1	1	2	4	2	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.108G>T	p.=	p.V36V	ENST00000408011	2/5	130	84	46	114	114	0	strelka-varscan-mutect	KCTD1,synonymous_variant,p.=,ENST00000408011,NM_001136205.2;KCTD1,synonymous_variant,p.=,ENST00000579973,NM_198991.3;KCTD1,synonymous_variant,p.=,ENST00000317932,;KCTD1,synonymous_variant,p.=,ENST00000417602,NM_001258221.1;KCTD1,synonymous_variant,p.=,ENST00000580059,;KCTD1,synonymous_variant,p.=,ENST00000580191,NM_001258222.1;KCTD1,synonymous_variant,p.=,ENST00000580638,;KCTD1,synonymous_variant,p.=,ENST00000578973,;	A	ENST00000408011	Transcript	synonymous_variant	668/2103	108/774	36/257	V	gtG/gtT		1		-1	KCTD1	HGNC	HGNC:18249	protein_coding	YES	CCDS11888.1	ENSP00000384367	Q719H9	A0A024RC45	UPI00001CDFF1	NM_001136205.2			2/5		Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF65,SMART_domains:SM00225,Superfamily_domains:SSF54695																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	26501128	26501128	C	A	1	0	0	0	0	0	0	0	1	8013	581	21	2		2	KCTD1	18	26501128	Silent	SNP	C	C3N-00560_TP	2572896	26501128	53872157	1108	19047											
CCDC178	0	.	GRCh38	chr18	33346327	33346327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttcttcagcgtctgccCggtcagtttctagactttta	7	15	8	11	2	5	1	2	0	3	1	5	1	5	1	1	1	3	2	1	1	3	6	rs779422806		C3N-00560_TP	C3N-00560_NB	C	C																c.542G>A	p.Arg181Gln	p.R181Q	ENST00000583930	8/23	241	182	59	252	252	0	strelka-varscan-mutect	CCDC178,missense_variant,p.Arg181Gln,ENST00000383096,;CCDC178,missense_variant,p.Arg181Gln,ENST00000403303,NM_001105528.1;CCDC178,missense_variant,p.Arg181Gln,ENST00000583930,;CCDC178,missense_variant,p.Arg181Gln,ENST00000300227,NM_198995.2;CCDC178,missense_variant,p.Arg181Gln,ENST00000406524,;CCDC178,missense_variant,p.Arg181Gln,ENST00000579947,;CCDC178,intron_variant,,ENST00000579916,;CCDC178,missense_variant,p.Arg181Gln,ENST00000399177,;CCDC178,upstream_gene_variant,,ENST00000577268,;	T	ENST00000583930	Transcript	missense_variant	621/3094	542/2676	181/891	R/Q	cGg/cAg	rs779422806,COSM1640956,COSM1640957	1		-1	CCDC178	HGNC	HGNC:29588	protein_coding	YES	CCDS77174.1	ENSP00000463254		F8W7A7	UPI00020655A5		deleterious(0)		8/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR35088:SF1,hmmpanther:PTHR35088											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs779422806	.												T	3	4	57	33346327	33346327	C	T	1	0	0	0	0	1	0	0	0	2493	652	23	1		1	CCDC178	18	33346327	Missense_Mutation	SNP	C	C3N-00560_TP	6845199	33346327	47026958	1109	19048											
NOL4	0	.	GRCh38	chr18	34019326	34019326	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgatcataccttgcttcCattttctctcgcctctcgtt	5	18	5	13	2	3	1	1	1	2	0	7	1	4	1	3	0	2	2	3	0	1	6	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1048G>T	p.Gly350Ter	p.G350*	ENST00000261592	6/11	100	79	21	113	113	0	strelka-varscan-mutect	NOL4,stop_gained,p.Gly350Ter,ENST00000261592,NM_003787.4;NOL4,stop_gained,p.Gly350Ter,ENST00000589544,NM_001198548.1;NOL4,stop_gained,p.Gly276Ter,ENST00000538587,NM_001198547.1;NOL4,stop_gained,p.Gly334Ter,ENST00000590712,NM_001198546.1;NOL4,stop_gained,p.Gly65Ter,ENST00000535384,NM_001198549.1;NOL4,stop_gained,p.Gly99Ter,ENST00000586553,;NOL4,3_prime_UTR_variant,,ENST00000586314,;	A	ENST00000261592	Transcript	stop_gained	1346/3957	1048/1917	350/638	G/*	Gga/Tga		1		-1	NOL4	HGNC	HGNC:7870	protein_coding	YES	CCDS11907.2	ENSP00000261592	O94818		UPI000059D504	NM_003787.4			6/11		hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF17																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	34019326	34019326	C	A	1	0	0	0	0	0	1	0	0	10567	603	21	2		2	NOL4	18	34019326	Nonsense_Mutation	SNP	C	C3N-00560_TP	672999	34019326	46353959	1110	19049											
DTNA	0	.	GRCh38	chr18	34766018	34766018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaacagcatgcaagcttaGgtttgttcagaagaaatgca	15	9	10	7	0	1	3	1	0	0	3	1	3	1	3	0	1	5	6	0	1	5	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.125G>A	p.Arg42Lys	p.R42K	ENST00000598334	4/20	418	314	104	393	393	0	strelka-varscan-mutect	DTNA,missense_variant,p.Arg42Lys,ENST00000283365,NM_032975.3;DTNA,missense_variant,p.Arg42Lys,ENST00000399121,NM_001198939.1;DTNA,missense_variant,p.Arg42Lys,ENST00000444659,NM_001390.4;DTNA,missense_variant,p.Arg42Lys,ENST00000595022,NM_001198940.1;DTNA,missense_variant,p.Arg42Lys,ENST00000348997,NM_032978.6,NM_001391.5;DTNA,missense_variant,p.Arg42Lys,ENST00000598334,NM_001198938.1;DTNA,missense_variant,p.Arg42Lys,ENST00000598142,;DTNA,missense_variant,p.Arg42Lys,ENST00000598774,NM_032979.4;DTNA,missense_variant,p.Arg42Lys,ENST00000399113,;DTNA,missense_variant,p.Arg42Lys,ENST00000597599,NM_001198941.1;DTNA,missense_variant,p.Arg42Lys,ENST00000315456,NM_001392.4;DTNA,missense_variant,p.Arg42Lys,ENST00000554864,NM_001128175.1;DTNA,missense_variant,p.Arg42Lys,ENST00000596745,NM_001198945.1;DTNA,missense_variant,p.Arg42Lys,ENST00000590598,;DTNA,missense_variant,p.Arg42Lys,ENST00000590412,;DTNA,missense_variant,p.Arg42Lys,ENST00000588125,;DTNA,missense_variant,p.Arg44Lys,ENST00000588949,;DTNA,missense_variant,p.Arg31Lys,ENST00000591816,;RP11-138H11.1,intron_variant,,ENST00000596954,;DTNA,intron_variant,,ENST00000585446,;	A	ENST00000598334	Transcript	missense_variant	451/3201	125/2175	42/724	R/K	aGg/aAg		1		1	DTNA	HGNC	HGNC:3057	protein_coding	YES	CCDS59312.1	ENSP00000470152	Q9Y4J8		UPI0001E92A2F	NM_001198938.1	deleterious(0.01)		4/20		hmmpanther:PTHR11915:SF209,hmmpanther:PTHR11915,PIRSF_domain:PIRSF038204,Pfam_domain:PF09068,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	34766018	34766018	G	A	1	0	0	0	0	1	0	0	0	4611	1000	35	3		3	DTNA	18	34766018	Missense_Mutation	SNP	G	C3N-00560_TP	746692	34766018	45607267	1111	19050											
DTNA	0	.	GRCh38	chr18	34812033	34812033	+	Frame_Shift_Del	DEL	C	C	-																															accaattccttcgggaagttCtcaaactacccacggcagtt																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.523delC	p.Leu175SerfsTer32	p.L175Sfs*32	ENST00000598334	7/20	283	203	80	307	307	0	sindel-varindel-pindel	DTNA,frameshift_variant,p.Leu175SerfsTer32,ENST00000283365,NM_032975.3;DTNA,frameshift_variant,p.Leu175SerfsTer32,ENST00000399121,NM_001198939.1;DTNA,frameshift_variant,p.Leu175SerfsTer32,ENST00000444659,NM_001390.4;DTNA,frameshift_variant,p.Leu175SerfsTer32,ENST00000595022,NM_001198940.1;DTNA,frameshift_variant,p.Leu175SerfsTer32,ENST00000348997,NM_032978.6,NM_001391.5;DTNA,frameshift_variant,p.Leu175SerfsTer32,ENST00000598334,NM_001198938.1;DTNA,frameshift_variant,p.Leu175SerfsTer32,ENST00000598142,;DTNA,frameshift_variant,p.Leu175SerfsTer32,ENST00000598774,NM_032979.4;DTNA,frameshift_variant,p.Leu175SerfsTer32,ENST00000399113,;DTNA,frameshift_variant,p.Leu175SerfsTer32,ENST00000597599,NM_001198941.1;DTNA,frameshift_variant,p.Leu175SerfsTer32,ENST00000315456,NM_001392.4;DTNA,frameshift_variant,p.Leu175SerfsTer32,ENST00000554864,NM_001128175.1;DTNA,frameshift_variant,p.Leu175SerfsTer51,ENST00000596745,NM_001198945.1;DTNA,non_coding_transcript_exon_variant,,ENST00000585446,;DTNA,upstream_gene_variant,,ENST00000592114,;	-	ENST00000598334	Transcript	frameshift_variant	849/3201	523/2175	175/724	L/X	Ctc/tc		1		1	DTNA	HGNC	HGNC:3057	protein_coding	YES	CCDS59312.1	ENSP00000470152	Q9Y4J8		UPI0001E92A2F	NM_001198938.1			7/20		hmmpanther:PTHR11915:SF209,hmmpanther:PTHR11915,Gene3D:1.10.238.10,Pfam_domain:PF09069,PIRSF_domain:PIRSF038204,Superfamily_domains:SSF47473																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	57	34812033	34812033	C	-	1	0	1	0	1	0	0	0	0	4611	913	32	0		0	DTNA	18	34812033	Frame_Shift_Del	DEL	C	C3N-00560_TP	46015	34812033	45561252	1112	19051											
SLC14A2	0	.	GRCh38	chr18	45673746	45673746	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcttcaacagcacccTcgcatgcatagcgataggag	10	8	12	11	2	1	0	1	0	0	0	2	2	1	1	1	2	4	4	1	2	3	3	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.2441T>A	p.Leu814His	p.L814H	ENST00000255226	18/20	261	184	77	228	228	0	strelka-varscan-mutect	SLC14A2,missense_variant,p.Leu814His,ENST00000255226,NM_007163.3;SLC14A2,missense_variant,p.Leu814His,ENST00000586448,NM_001242692.1;RP11-116O18.3,intron_variant,,ENST00000589510,;	A	ENST00000255226	Transcript	missense_variant	3257/4746	2441/2763	814/920	L/H	cTc/cAc		1		1	SLC14A2	HGNC	HGNC:10919	protein_coding	YES	CCDS11924.1	ENSP00000255226	Q15849		UPI000013CE99	NM_007163.3	deleterious(0)		18/20		Transmembrane_helices:TMhelix,hmmpanther:PTHR10464:SF6,hmmpanther:PTHR10464,Pfam_domain:PF03253,Gene3D:1.10.3430.10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	45673746	45673746	T	A	1	0	0	0	0	1	0	0	0	14662	1551	54	4		4	SLC14A2	18	45673746	Missense_Mutation	SNP	T	C3N-00560_TP	10861713	45673746	34699539	1113	19052											
EPG5	0	.	GRCh38	chr18	45943232	45943232	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtttctaaccccacagcCagaagttccactagtgagtt	12	10	8	11	0	1	2	0	1	1	1	2	2	2	2	4	1	2	3	4	1	4	5	rs777606681		C3N-00560_TP	C3N-00560_NB	C	C																c.1872G>T	p.=	p.L624L	ENST00000282041	9/44	249	195	54	259	258	1	strelka-varscan-mutect	EPG5,synonymous_variant,p.=,ENST00000282041,NM_020964.2;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;	A	ENST00000282041	Transcript	synonymous_variant	1907/12633	1872/7740	624/2579	L	ctG/ctT	rs777606681	1		-1	EPG5	HGNC	HGNC:29331	protein_coding	YES	CCDS11926.2	ENSP00000282041	Q9HCE0		UPI00004F6F8A	NM_020964.2			9/44		hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4																	LOW	1	SNV	2			1										PASS		rs777606681	.												A	2	1	57	45943232	45943232	C	A	1	0	0	0	0	0	0	0	1	5010	581	21	2		2	EPG5	18	45943232	Silent	SNP	C	C3N-00560_TP	269486	45943232	34430053	1114	19053											
LOXHD1	0	.	GRCh38	chr18	46533324	46533324	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaagtcaaggtctctgcacCctggggtgaggcagaaaaag	13	6	14	8	0	2	2	1	1	1	1	3	3	2	2	1	4	1	2	1	4	4	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.880G>C	p.Gly294Arg	p.G294R	ENST00000300591	10/24	157	98	59	104	104	0	strelka-varscan-mutect	LOXHD1,missense_variant,p.Gly1405Arg,ENST00000536736,NM_144612.6;LOXHD1,missense_variant,p.Gly1199Arg,ENST00000441551,;LOXHD1,missense_variant,p.Gly294Arg,ENST00000300591,NM_001145472.2;LOXHD1,missense_variant,p.Gly294Arg,ENST00000582408,;LOXHD1,missense_variant,p.Gly198Arg,ENST00000579038,NM_001308013.1;LOXHD1,splice_region_variant,,ENST00000335730,;LOXHD1,splice_region_variant,,ENST00000536111,;	G	ENST00000300591	Transcript	missense_variant,splice_region_variant	1294/3970	880/3345	294/1114	G/R	Ggt/Cgt		1		-1	LOXHD1	HGNC	HGNC:26521	protein_coding	YES	CCDS45861.1	ENSP00000300591	Q8IVV2		UPI0000456B8D	NM_001145472.2	deleterious(0)		10/24		Gene3D:2.60.60.20,Pfam_domain:PF01477,PROSITE_profiles:PS50095,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF137,Superfamily_domains:SSF49723																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	46533324	46533324	C	G	1	0	0	0	0	1	0	0	0	8801	637	22	4		4	LOXHD1	18	46533324	Missense_Mutation	SNP	C	C3N-00560_TP	590092	46533324	33839961	1115	19054											
LOXHD1	0	.	GRCh38	chr18	46610852	46610852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagctgccccaaatccGgggcatccaggatgaacctg	10	7	10	14	1	2	1	2	1	0	0	4	2	4	2	5	3	3	2	5	3	2	0	rs372408513		C3N-00560_TP	C3N-00560_NB	G	G																c.683C>A	p.Pro228Gln	p.P228Q	ENST00000536736	6/40	169	113	56	147	147	0	strelka-varscan-mutect	LOXHD1,missense_variant,p.Pro228Gln,ENST00000536736,NM_144612.6;LOXHD1,missense_variant,p.Pro228Gln,ENST00000441551,;	T	ENST00000536736	Transcript	missense_variant	683/6848	683/6636	228/2211	P/Q	cCg/cAg	rs372408513	1		-1	LOXHD1	HGNC	HGNC:26521	protein_coding			ENSP00000444586		F5GZB4	UPI0001A595CE	NM_144612.6	deleterious(0.04)		6/40		Gene3D:2.60.60.20,Pfam_domain:PF01477,PROSITE_profiles:PS50095,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF137,SMART_domains:SM00308,Superfamily_domains:SSF49723																	MODERATE	1	SNV	5			1										PASS		rs372408513	.												T	3	4	57	46610852	46610852	G	T	1	0	0	0	0	1	0	0	0	8801	1116	39	1		1	LOXHD1	18	46610852	Missense_Mutation	SNP	G	C3N-00560_TP	77528	46610852	33762433	1116	19055											
DCC	0	.	GRCh38	chr18	52340859	52340859	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcggagcttccttgttcagCgcgcatcttcaagtaaccgg	7	12	10	12	4	3	0	2	0	1	0	5	1	4	1	2	2	3	4	2	2	2	6	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.72C>G	p.Ser24Arg	p.S24R	ENST00000442544	1/29	614	458	156	541	541	0	strelka-varscan-mutect	DCC,missense_variant,p.Ser24Arg,ENST00000442544,NM_005215.3;RP11-25O3.1,upstream_gene_variant,,ENST00000582700,;	G	ENST00000442544	Transcript	missense_variant	688/10206	72/4344	24/1447	S/R	agC/agG		1		1	DCC	HGNC	HGNC:2701	protein_coding	YES	CCDS11952.1	ENSP00000389140	P43146		UPI00001AEDC6	NM_005215.3	tolerated(0.36)		1/29		PROSITE_profiles:PS50835,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	52340859	52340859	C	G	1	0	0	0	0	1	0	0	0	4084	767	27	4		4	DCC	18	52340859	Missense_Mutation	SNP	C	C3N-00560_TP	5730007	52340859	28032426	1117	19056											
DCC	0	.	GRCh38	chr18	52752137	52752137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggggaggaaatgtcctcCtcgactgctccgcggagtcc	6	8	14	13	4	0	0	0	0	0	0	5	4	4	3	4	4	2	1	4	4	1	0	rs762319358		C3N-00560_TP	C3N-00560_NB	C	C																c.175C>T	p.Leu59Phe	p.L59F	ENST00000442544	2/29	213	156	57	228	228	0	strelka-varscan-mutect	DCC,missense_variant,p.Leu59Phe,ENST00000442544,NM_005215.3;DCC,missense_variant,p.Leu36Phe,ENST00000412726,;DCC,missense_variant,p.Leu27Phe,ENST00000578080,;DCC,upstream_gene_variant,,ENST00000582875,;DCC,upstream_gene_variant,,ENST00000580024,;DCC,upstream_gene_variant,,ENST00000579666,;DCC,upstream_gene_variant,,ENST00000582595,;DCC,upstream_gene_variant,,ENST00000304775,;DCC,upstream_gene_variant,,ENST00000579349,;DCC,upstream_gene_variant,,ENST00000581559,;	T	ENST00000442544	Transcript	missense_variant	791/10206	175/4344	59/1447	L/F	Ctc/Ttc	rs762319358,COSM5608240	1		1	DCC	HGNC	HGNC:2701	protein_coding	YES	CCDS11952.1	ENSP00000389140	P43146		UPI00001AEDC6	NM_005215.3	deleterious(0)		2/29		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF68,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs762319358	.												T	3	4	57	52752137	52752137	C	T	1	0	0	0	0	1	0	0	0	4084	681	24	3		3	DCC	18	52752137	Missense_Mutation	SNP	C	C3N-00560_TP	411278	52752137	27621148	1118	19057											
DCC	0	.	GRCh38	chr18	53450621	53450621	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggtagtggtcatcgtGgctgtgatttgcacccgacg	5	12	15	9	3	1	1	1	1	0	0	2	2	1	1	1	3	2	4	1	3	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3351G>T	p.=	p.V1117V	ENST00000442544	23/29	586	418	168	560	557	3	strelka-varscan-mutect	DCC,synonymous_variant,p.=,ENST00000442544,NM_005215.3;DCC,synonymous_variant,p.=,ENST00000412726,;DCC,synonymous_variant,p.=,ENST00000581580,;	T	ENST00000442544	Transcript	synonymous_variant	3967/10206	3351/4344	1117/1447	V	gtG/gtT		1		1	DCC	HGNC	HGNC:2701	protein_coding	YES	CCDS11952.1	ENSP00000389140	P43146		UPI00001AEDC6	NM_005215.3			23/29		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF68,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs967763926	.												T	2	4	57	53450621	53450621	G	T	1	0	0	0	0	0	0	0	1	4084	1335	47	2		2	DCC	18	53450621	Silent	SNP	G	C3N-00560_TP	698484	53450621	26922664	1119	19058											
ONECUT2	0	.	GRCh38	chr18	57476678	57476678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtggcaagacgatctgagCacagggggctcctcgtccac	10	6	13	12	2	1	2	0	1	1	1	4	3	3	2	2	3	1	3	2	3	2	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1470C>A	p.Ser490Arg	p.S490R	ENST00000491143	2/2	279	194	85	241	241	0	strelka-varscan-mutect	ONECUT2,missense_variant,p.Ser490Arg,ENST00000491143,NM_004852.2;ONECUT2,non_coding_transcript_exon_variant,,ENST00000481727,;	A	ENST00000491143	Transcript	missense_variant	1502/16121	1470/1515	490/504	S/R	agC/agA		1		1	ONECUT2	HGNC	HGNC:8139	protein_coding	YES	CCDS42440.1	ENSP00000419185	O95948		UPI0000201DC1	NM_004852.2	tolerated_low_confidence(0.16)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR14057,hmmpanther:PTHR14057:SF10,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	57476678	57476678	C	A	1	0	0	0	0	1	0	0	0	10944	709	25	2		2	ONECUT2	18	57476678	Missense_Mutation	SNP	C	C3N-00560_TP	4026057	57476678	22896607	1120	19059											
NEDD4L	0	.	GRCh38	chr18	58396243	58396243	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcatggccgtggaaaatGctcaaggatttgaaggggtg	10	11	14	6	1	2	1	2	1	1	0	3	3	2	3	1	5	1	1	1	5	4	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2902G>C	p.Ala968Pro	p.A968P	ENST00000400345	31/31	222	156	66	186	186	0	strelka-varscan-mutect	NEDD4L,missense_variant,p.Ala847Pro,ENST00000456986,NM_001144964.1,NM_001144965.1;NEDD4L,missense_variant,p.Ala948Pro,ENST00000382850,NM_015277.5;NEDD4L,missense_variant,p.Ala827Pro,ENST00000456173,NM_001144970.2;NEDD4L,missense_variant,p.Ala1247Pro,ENST00000635997,;NEDD4L,missense_variant,p.Ala968Pro,ENST00000400345,NM_001144967.2;NEDD4L,missense_variant,p.Ala960Pro,ENST00000357895,NM_001144968.1;NEDD4L,missense_variant,p.Ala827Pro,ENST00000435432,NM_001144971.1;NEDD4L,missense_variant,p.Ala940Pro,ENST00000586263,NM_001144969.1;NEDD4L,missense_variant,p.Ala847Pro,ENST00000431212,NM_001144966.2;NEDD4L,missense_variant,p.Ala904Pro,ENST00000356462,NM_001243960.1;NEDD4L,missense_variant,p.Ala864Pro,ENST00000256830,;NEDD4L,missense_variant,p.Ala632Pro,ENST00000587881,;NEDD4L,missense_variant,p.Ala99Pro,ENST00000589054,;RP11-845C23.3,downstream_gene_variant,,ENST00000590318,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000590506,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000588712,;NEDD4L,downstream_gene_variant,,ENST00000592097,;	C	ENST00000400345	Transcript	missense_variant	3185/3647	2902/2928	968/975	A/P	Gct/Cct		1		1	NEDD4L	HGNC	HGNC:7728	protein_coding	YES	CCDS45872.1	ENSP00000383199	Q96PU5		UPI000058E3AE	NM_001144967.2	deleterious(0.01)		31/31		Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF310,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	58396243	58396243	G	C	1	0	0	0	0	1	0	0	0	10339	1319	46	4		4	NEDD4L	18	58396243	Missense_Mutation	SNP	G	C3N-00560_TP	919565	58396243	21977042	1121	19060											
ALPK2	0	.	GRCh38	chr18	58536339	58536339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccaattcaggcacaacaGcatctgcctttagactatca	12	9	8	12	0	3	1	2	0	1	1	3	1	3	1	2	2	3	2	2	2	4	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3848C>A	p.Ala1283Asp	p.A1283D	ENST00000361673	5/13	262	195	67	236	236	0	strelka-varscan-mutect	ALPK2,missense_variant,p.Ala1283Asp,ENST00000361673,NM_052947.3;RP11-1151B14.4,non_coding_transcript_exon_variant,,ENST00000591360,;ALPK2,downstream_gene_variant,,ENST00000587842,;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;	T	ENST00000361673	Transcript	missense_variant	4062/7303	3848/6513	1283/2170	A/D	gCt/gAt		1		-1	ALPK2	HGNC	HGNC:20565	protein_coding	YES	CCDS11966.2	ENSP00000354991	Q86TB3		UPI000022A768	NM_052947.3	deleterious(0.04)		5/13		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	58536339	58536339	G	T	1	0	0	0	0	1	0	0	0	645	971	34	2		2	ALPK2	18	58536339	Missense_Mutation	SNP	G	C3N-00560_TP	140096	58536339	21836946	1122	19061											
KIAA1468	0	.	GRCh38	chr18	62187887	62187887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgggagctgcctcggctgCgcgactacttctccaatcca	6	8	11	16	4	1	0	0	0	1	0	4	2	2	1	4	2	4	2	4	2	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.382C>T	p.Arg128Cys	p.R128C	ENST00000398130	1/29	158	128	30	128	128	0	strelka-varscan-mutect	KIAA1468,missense_variant,p.Arg128Cys,ENST00000398130,NM_020854.3;KIAA1468,missense_variant,p.Arg128Cys,ENST00000256858,;PIGN,upstream_gene_variant,,ENST00000357637,NM_176787.4;PIGN,upstream_gene_variant,,ENST00000400334,NM_012327.5;PIGN,upstream_gene_variant,,ENST00000589720,;PIGN,upstream_gene_variant,,ENST00000587134,;PIGN,upstream_gene_variant,,ENST00000585923,;PIGN,upstream_gene_variant,,ENST00000585344,;PIGN,upstream_gene_variant,,ENST00000588571,;PIGN,upstream_gene_variant,,ENST00000589339,;PIGN,upstream_gene_variant,,ENST00000590765,;PIGN,upstream_gene_variant,,ENST00000585926,;PIGN,upstream_gene_variant,,ENST00000585458,;PIGN,upstream_gene_variant,,ENST00000593225,;KIAA1468,missense_variant,p.Arg128Cys,ENST00000587725,;	T	ENST00000398130	Transcript	missense_variant	614/6178	382/3651	128/1216	R/C	Cgc/Tgc		1		1	KIAA1468	HGNC	HGNC:29289	protein_coding	YES	CCDS11979.2	ENSP00000381198	Q9P260		UPI0000DA5AF7	NM_020854.3	deleterious(0)		1/29		hmmpanther:PTHR32059:SF0,hmmpanther:PTHR32059																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	62187887	62187887	C	T	1	0	0	0	0	1	0	0	0	8117	768	27	1		1	KIAA1468	18	62187887	Missense_Mutation	SNP	C	C3N-00560_TP	3651548	62187887	18185398	1123	19062											
KIAA1468	0	.	GRCh38	chr18	62305441	62305441	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaattgctgcaagcttagtGagtgaagatacaaagaccaa	16	9	9	7	0	1	4	1	2	0	2	1	4	1	4	1	0	4	3	1	0	7	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3558G>A	p.=	p.V1186V	ENST00000398130	29/29	172	118	54	155	155	0	strelka-varscan-mutect	KIAA1468,synonymous_variant,p.=,ENST00000398130,NM_020854.3;KIAA1468,synonymous_variant,p.=,ENST00000256858,;RP11-173A16.1,upstream_gene_variant,,ENST00000591014,;	A	ENST00000398130	Transcript	synonymous_variant	3790/6178	3558/3651	1186/1216	V	gtG/gtA		1		1	KIAA1468	HGNC	HGNC:29289	protein_coding	YES	CCDS11979.2	ENSP00000381198	Q9P260		UPI0000DA5AF7	NM_020854.3			29/29		hmmpanther:PTHR32059,hmmpanther:PTHR32059:SF0																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	62305441	62305441	G	A	1	0	0	0	0	0	0	0	1	8117	1277	45	3		3	KIAA1468	18	62305441	Silent	SNP	G	C3N-00560_TP	117554	62305441	18067844	1124	19063											
KDSR	0	.	GRCh38	chr18	63331854	63331854	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaactatgctgtcaaaactTccaaggtaaaacaaagcaat	18	8	6	9	1	1	0	1	0	0	0	2	1	2	0	1	1	5	3	1	1	9	3	rs751892868		C3N-00560_TP	C3N-00560_NB	T	T																c.927A>T	p.=	p.G309G	ENST00000406396	10/10	186	146	40	159	159	0	strelka-varscan-mutect	KDSR,synonymous_variant,p.=,ENST00000406396,NM_002035.2;KDSR,synonymous_variant,p.=,ENST00000326575,;KDSR,synonymous_variant,p.=,ENST00000591902,;KDSR,non_coding_transcript_exon_variant,,ENST00000589592,;KDSR,non_coding_transcript_exon_variant,,ENST00000586791,;KDSR,non_coding_transcript_exon_variant,,ENST00000588089,;	A	ENST00000406396	Transcript	synonymous_variant	1319/5447	927/999	309/332	G	ggA/ggT	rs751892868	1		-1	KDSR	HGNC	HGNC:4021	protein_coding	YES	CCDS11982.1	ENSP00000385083	Q06136	A0A024R292	UPI000004C798	NM_002035.2			10/10																			LOW	1	SNV	1			1										PASS		rs751892868	.												A	2	1	57	63331854	63331854	T	A	1	0	0	0	0	0	0	0	1	8060	1770	62	4		4	KDSR	18	63331854	Silent	SNP	T	C3N-00560_TP	1026413	63331854	17041431	1125	19064											
SERPINB12	0	.	GRCh38	chr18	63566695	63566695	+	Frame_Shift_Del	DEL	G	G	-																															ggtggtcctgtccttcccccGgttcaccctggaagacagct																								rs755221725		C3N-00560_TP	C3N-00560_NB	G	G																c.963delG	p.Phe322SerfsTer?	p.F322Sfs*?	ENST00000382768	7/7	182	134	48	205	205	0	sindel-varindel-pindel	SERPINB12,frameshift_variant,p.Phe322SerfsTer?,ENST00000382768,NM_001307928.1;SERPINB12,frameshift_variant,p.Phe302SerfsTer?,ENST00000269491,NM_080474.1;	-	ENST00000382768	Transcript	frameshift_variant	962/1278	962/1278	321/425	R/X	cGg/cg	rs755221725	1		1	SERPINB12	HGNC	HGNC:14220	protein_coding	YES	CCDS77194.1	ENSP00000372218	Q96P63		UPI00003DA003	NM_001307928.1			7/7		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF125,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	57	63566695	63566695	G	-	1	0	1	0	1	0	0	0	0	14375	1116	39	0		0	SERPINB12	18	63566695	Frame_Shift_Del	DEL	G	C3N-00560_TP	234841	63566695	16806590	1126	19065											
SERPINB4	0	.	GRCh38	chr18	63643181	63643181	+	Frame_Shift_Del	DEL	C	C	-																															atgatatgttgcagctttttCtgtggtgttctctgtgactt																										C3N-00560_TP	C3N-00560_NB	C	C																c.202delG	p.Glu68LysfsTer22	p.E68Kfs*22	ENST00000341074	3/8	237	194	43	269	269	0	sindel-varindel-pindel	SERPINB4,frameshift_variant,p.Glu68LysfsTer22,ENST00000341074,NM_002974.3;SERPINB4,frameshift_variant,p.Glu70LysfsTer22,ENST00000413673,NM_175041.1;SERPINB4,frameshift_variant,p.Glu68LysfsTer10,ENST00000436264,;SERPINB11,upstream_gene_variant,,ENST00000489748,;SERPINB4,non_coding_transcript_exon_variant,,ENST00000498496,;	-	ENST00000341074	Transcript	frameshift_variant	318/1749	202/1173	68/390	E/X	Gaa/aa	COSM5588911	1		-1	SERPINB4	HGNC	HGNC:10570	protein_coding	YES	CCDS11986.1	ENSP00000343445	P48594		UPI0000038A1A	NM_002974.3			3/8		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF186,SMART_domains:SM00093,Superfamily_domains:SSF56574											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	57	63643181	63643181	C	-	1	0	1	0	1	0	0	0	0	14379	922	32	0		0	SERPINB4	18	63643181	Frame_Shift_Del	DEL	C	C3N-00560_TP	76486	63643181	16730104	1127	19066											
SERPINB11	0	.	GRCh38	chr18	63712622	63712622	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaattctctcaaatcaacCagccagactctaactgtacc	13	10	4	14	1	4	1	2	0	2	1	6	2	4	1	3	0	4	1	3	0	5	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.286C>T	p.Gln96Ter	p.Q96*	ENST00000623262	3/5	152	117	35	158	158	0	strelka-varscan-mutect	SERPINB11,stop_gained,p.Gln96Ter,ENST00000382749,NM_080475.3;SERPINB11,stop_gained,p.Gln96Ter,ENST00000544088,;SERPINB11,stop_gained,p.Gln96Ter,ENST00000489748,;SERPINB11,stop_gained,p.Gln96Ter,ENST00000623262,NM_001291278.1;SERPINB11,intron_variant,,ENST00000624518,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000467649,;SERPINB11,stop_gained,p.Gln96Ter,ENST00000536691,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000610304,;	T	ENST00000623262	Transcript	stop_gained	286/918	286/918	96/305	Q/*	Cag/Tag		1		1	SERPINB11	HGNC	HGNC:14221	protein_coding	YES	CCDS77196.1	ENSP00000485532		A0A096LPD5	UPI0003EAEE70	NM_001291278.1			3/5		hmmpanther:PTHR11461:SF199,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	63712622	63712622	C	T	1	0	0	0	0	0	1	0	0	14374	595	21	3		3	SERPINB11	18	63712622	Nonsense_Mutation	SNP	C	C3N-00560_TP	69441	63712622	16660663	1128	19067											
CDH7	0	.	GRCh38	chr18	65880583	65880583	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccgagacaccaagaccCggagggatgtgactccagaa	13	5	11	12	2	1	4	1	1	0	3	3	7	3	6	4	2	0	0	4	2	2	0	rs779582603		C3N-00560_TP	C3N-00560_NB	C	C																c.2047C>A	p.=	p.R683R	ENST00000397968	12/12	133	93	40	103	103	0	strelka-varscan-mutect	CDH7,synonymous_variant,p.=,ENST00000397968,NM_004361.2;CDH7,synonymous_variant,p.=,ENST00000323011,NM_033646.1;	A	ENST00000397968	Transcript	synonymous_variant	2473/12231	2047/2358	683/785	R	Cgg/Agg	rs779582603	1		1	CDH7	HGNC	HGNC:1766	protein_coding	YES	CCDS11993.1	ENSP00000381058	Q9ULB5		UPI000013D269	NM_004361.2			12/12		Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91																	LOW	1	SNV	1			1										PASS		rs779582603	.												A	2	1	57	65880583	65880583	C	A	1	0	0	0	0	0	0	0	1	2818	643	23	1		1	CDH7	18	65880583	Silent	SNP	C	C3N-00560_TP	2167961	65880583	14492702	1129	19068											
DSEL	0	.	GRCh38	chr18	67511282	67511282	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtatttattctcaaggcTgctgctgtatttgctagcca	7	17	8	9	0	2	0	1	0	2	0	3	0	2	0	1	1	4	6	1	1	5	7	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.3357A>T	p.=	p.A1119A	ENST00000310045	2/2	258	188	70	246	245	1	strelka-varscan-mutect	DSEL,synonymous_variant,p.=,ENST00000310045,NM_032160.2;CTD-2541J13.2,non_coding_transcript_exon_variant,,ENST00000583493,;CTD-2541J13.2,non_coding_transcript_exon_variant,,ENST00000581951,;	A	ENST00000310045	Transcript	synonymous_variant	4831/9531	3357/3669	1119/1222	A	gcA/gcT		1		-1	DSEL	HGNC	HGNC:18144	protein_coding	YES	CCDS11995.1	ENSP00000310565	Q8IZU8		UPI00000740A1	NM_032160.2			2/2		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2,Superfamily_domains:SSF52540																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	57	67511282	67511282	T	A	1	0	0	0	0	0	0	0	1	4596	1567	55	4		4	DSEL	18	67511282	Silent	SNP	T	C3N-00560_TP	1630699	67511282	12862003	1130	19069											
CD226	0	.	GRCh38	chr18	69864333	69864333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaactctagtctttggtCtgcgagagaaggttggatag	10	13	12	6	1	3	1	0	0	3	1	3	4	3	2	0	3	2	1	0	3	5	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.992G>T	p.Arg331Ile	p.R331I	ENST00000280200	7/7	134	93	41	121	121	0	strelka-varscan-mutect	CD226,missense_variant,p.Arg331Ile,ENST00000280200,NM_006566.3;CD226,missense_variant,p.Arg176Ile,ENST00000581982,NM_001303619.1;CD226,missense_variant,p.Arg331Ile,ENST00000582621,NM_001303618.1;CD226,missense_variant,p.Arg176Ile,ENST00000577287,;CD226,intron_variant,,ENST00000578928,;	A	ENST00000280200	Transcript	missense_variant	1261/12319	992/1011	331/336	R/I	aGa/aTa		1		-1	CD226	HGNC	HGNC:16961	protein_coding	YES	CCDS11997.1	ENSP00000280200	Q15762		UPI000013DC05	NM_006566.3	deleterious(0)		7/7		hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF58																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	69864333	69864333	C	A	1	0	0	0	0	1	0	0	0	2689	913	32	2		2	CD226	18	69864333	Missense_Mutation	SNP	C	C3N-00560_TP	2353051	69864333	10508952	1131	19070											
NETO1	0	.	GRCh38	chr18	72783748	72783748	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatctgcccacatgcggatCaccccaagacccgtgcgtag	9	7	9	16	3	3	1	2	0	1	1	3	2	3	2	4	1	3	1	4	1	2	1			C3N-00560_TP	C3N-00560_NB	C	C																c.798G>A	p.=	p.V266V	ENST00000327305	7/11	389	311	78	393	393	0	strelka-varscan-mutect	NETO1,synonymous_variant,p.=,ENST00000327305,NM_138966.3;NETO1,synonymous_variant,p.=,ENST00000583169,NM_001201465.1;NETO1,downstream_gene_variant,,ENST00000579730,;	T	ENST00000327305	Transcript	synonymous_variant	1456/3058	798/1602	266/533	V	gtG/gtA	COSM3527476	1		-1	NETO1	HGNC	HGNC:13823	protein_coding	YES	CCDS12000.1	ENSP00000313088	Q8TDF5	A0A024R375	UPI000013E59E	NM_138966.3			7/11		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF315,SMART_domains:SM00042,Superfamily_domains:SSF49854											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	57	72783748	72783748	C	T	1	0	0	0	0	0	0	0	1	10374	813	29	3		3	NETO1	18	72783748	Silent	SNP	C	C3N-00560_TP	2919415	72783748	7589537	1132	19071											
C18orf63	0	.	GRCh38	chr18	74322754	74322754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgaaaaatatggagctaaGgtaagtgttaaaaaatgata	19	11	10	1	0	0	2	0	2	0	0	0	3	0	3	0	2	1	4	0	2	9	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.270G>T	p.Lys90Asn	p.K90N	ENST00000579455	4/14	42	33	9	57	56	1	strelka-varscan-mutect	C18orf63,missense_variant,p.Lys90Asn,ENST00000579455,NM_001174123.1;	T	ENST00000579455	Transcript	missense_variant,splice_region_variant	599/5127	270/2058	90/685	K/N	aaG/aaT		1		1	C18orf63	HGNC	HGNC:40037	protein_coding	YES	CCDS54189.1	ENSP00000464330	Q68DL7		UPI00006C192C	NM_001174123.1	deleterious(0.03)		4/14		Pfam_domain:PF15813,hmmpanther:PTHR28495,hmmpanther:PTHR28495:SF1																	MODERATE	1	SNV	1			1										PASS		rs1175876880	.												T	3	4	57	74322754	74322754	G	T	1	0	0	0	0	1	0	0	0	1901	1014	35	2		2	C18orf63	18	74322754	Missense_Mutation	SNP	G	C3N-00560_TP	1539006	74322754	6050531	1133	19072											
CNDP1	0	.	GRCh38	chr18	74580251	74580252	+	Frame_Shift_Ins	INS	-	-	AA																															gacacccagtatctcgcagcINSaaaaagagcgatcagaacag																								novel		C3N-00560_TP	C3N-00560_NB	-	-																c.1293_1294dupAA	p.Arg432LysfsTer14	p.R432Kfs*14	ENST00000358821	10/12	121	82	39	96	96	0	sindel-pindel	CNDP1,frameshift_variant,p.Arg389LysfsTer14,ENST00000582365,;CNDP1,frameshift_variant,p.Arg432LysfsTer14,ENST00000358821,NM_032649.5;CNDP1,downstream_gene_variant,,ENST00000578498,;CNDP1,non_coding_transcript_exon_variant,,ENST00000582461,;CNDP1,non_coding_transcript_exon_variant,,ENST00000584004,;CNDP1,downstream_gene_variant,,ENST00000584316,;	AA	ENST00000358821	Transcript	frameshift_variant	1517-1518/2215	1289-1290/1524	430/507	A/AX	gca/gcAAa		1		1	CNDP1	HGNC	HGNC:20675	protein_coding	YES	CCDS12007.1	ENSP00000351682	Q96KN2		UPI00000463FC	NM_032649.5			10/12		Gene3D:3.40.630.10,Pfam_domain:PF01546,PIRSF_domain:PIRSF037242,hmmpanther:PTHR11014,hmmpanther:PTHR11014:SF58,Superfamily_domains:SSF53187																	HIGH	1	insertion	1	5		1										PASS		.	.												AA	7	5	57	74580251	74580251	-	AA	1	0	1	1	0	0	0	0	0	3372	710	25	0		0	CNDP1	18	74580251	Frame_Shift_Ins	INS	-	C3N-00560_TP	257497	74580251	5793034	1134	19073											
ZNF516	0	.	GRCh38	chr18	76441263	76441263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggtgcaggttcaggggCgccctcctcaccactgtctt	5	10	11	15	1	3	0	2	0	1	0	4	0	4	0	4	4	1	2	4	4	0	2	rs758621513		C3N-00560_TP	C3N-00560_NB	C	C																c.1792G>T	p.Ala598Ser	p.A598S	ENST00000443185	3/7	226	156	70	184	184	0	strelka-mutect	ZNF516,missense_variant,p.Ala598Ser,ENST00000443185,NM_014643.3;ZNF516,downstream_gene_variant,,ENST00000532857,;	A	ENST00000443185	Transcript	missense_variant	2110/8118	1792/3492	598/1163	A/S	Gcc/Tcc	rs758621513,COSM1234181	1		-1	ZNF516	HGNC	HGNC:28990	protein_coding	YES	CCDS74234.1	ENSP00000394757	Q92618		UPI00001394A1	NM_014643.3	tolerated(0.4)		3/7		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF3											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs758621513	.												A	3	1	57	76441263	76441263	C	A	1	0	0	0	0	1	0	0	0	18532	768	27	1		1	ZNF516	18	76441263	Missense_Mutation	SNP	C	C3N-00560_TP	1861012	76441263	3932022	1135	19074											
SALL3	0	.	GRCh38	chr18	78992756	78992756	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcaccgggcccggccccCagccagctgcccgggctggc	4	2	15	20	4	0	0	0	0	0	0	0	0	0	0	6	4	4	3	6	4	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.765C>A	p.=	p.P255P	ENST00000537592	2/3	61	40	21	33	33	0	strelka-varscan-mutect	SALL3,synonymous_variant,p.=,ENST00000537592,NM_171999.3;SALL3,synonymous_variant,p.=,ENST00000536229,;SALL3,synonymous_variant,p.=,ENST00000575389,;SALL3,intron_variant,,ENST00000616649,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	A	ENST00000537592	Transcript	synonymous_variant	765/6555	765/3903	255/1300	P	ccC/ccA		1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3			2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46																	LOW	1	SNV	5			1										PASS		rs1183300472	.												A	2	1	57	78992756	78992756	C	A	1	0	0	0	0	0	0	0	1	14071	581	21	2		2	SALL3	18	78992756	Silent	SNP	C	C3N-00560_TP	2551493	78992756	1380529	1136	19075											
SALL3	0	.	GRCh38	chr18	78995415	78995415	+	Missense_Mutation	SNP	G	G	T																															acaccggcgagaagccgttcGgctgcaccatctgcggccgg																								rs748568420		C3N-00560_TP	C3N-00560_NB	G	G																c.3424G>T	p.Gly1142Cys	p.G1142C	ENST00000537592	2/3	81	58	23	64	64	0	strelka-varscan-mutect	SALL3,missense_variant,p.Gly1142Cys,ENST00000537592,NM_171999.3;SALL3,missense_variant,p.Gly937Cys,ENST00000536229,;SALL3,missense_variant,p.Gly1070Cys,ENST00000575389,;SALL3,missense_variant,p.Gly802Cys,ENST00000616649,;SALL3,missense_variant,p.Gly135Cys,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	T	ENST00000537592	Transcript	missense_variant	3424/6555	3424/3903	1142/1300	G/C	Ggc/Tgc	rs748568420	1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3	deleterious(0)		2/3		PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		rs748568420	.												T	3	4	57	78995415	78995415	G	T	1	0	0	0	0	1	0	0	0	14071	1116	39	1		1	SALL3	18	78995415	Missense_Mutation	SNP	G	C3N-00560_TP	2659	78995415	1377870	1137	19076	403	2									
SALL3	0	.	GRCh38	chr18	78995416	78995416	+	Missense_Mutation	SNP	G	G	T																															caccggcgagaagccgttcgGctgcaccatctgcggccggg																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3425G>T	p.Gly1142Val	p.G1142V	ENST00000537592	2/3	82	59	23	64	64	0	strelka-varscan-mutect	SALL3,missense_variant,p.Gly1142Val,ENST00000537592,NM_171999.3;SALL3,missense_variant,p.Gly937Val,ENST00000536229,;SALL3,missense_variant,p.Gly1070Val,ENST00000575389,;SALL3,missense_variant,p.Gly802Val,ENST00000616649,;SALL3,missense_variant,p.Gly135Val,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	T	ENST00000537592	Transcript	missense_variant	3425/6555	3425/3903	1142/1300	G/V	gGc/gTc		1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3	tolerated(0.23)		2/3		PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	78995416	78995416	G	T	1	0	0	0	0	1	0	0	0	14071	1203	42	2		2	SALL3	18	78995416	Missense_Mutation	SNP	G	C3N-00560_TP	1	78995416	1377869	1138	19077	403	2									
ADNP2	0	.	GRCh38	chr18	80137260	80137260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgggattccaacctacaCgctggcccccgtgtctgtca	8	9	10	14	2	2	0	1	0	1	0	3	2	3	1	4	2	2	1	4	2	3	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1847C>A	p.Thr616Lys	p.T616K	ENST00000262198	4/4	344	271	73	297	297	0	strelka-varscan-mutect	ADNP2,missense_variant,p.Thr616Lys,ENST00000262198,NM_014913.3;ADNP2,intron_variant,,ENST00000561195,;ADNP2,downstream_gene_variant,,ENST00000560752,;ADNP2,downstream_gene_variant,,ENST00000559951,;ADNP2,downstream_gene_variant,,ENST00000560561,;	A	ENST00000262198	Transcript	missense_variant	2302/5393	1847/3396	616/1131	T/K	aCg/aAg		1		1	ADNP2	HGNC	HGNC:23803	protein_coding	YES	CCDS32853.1	ENSP00000262198	Q6IQ32	A0A024R377	UPI0000071DEA	NM_014913.3	deleterious(0)		4/4		hmmpanther:PTHR15740																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	80137260	80137260	C	A	1	0	0	0	0	1	0	0	0	399	536	19	1		1	ADNP2	18	80137260	Missense_Mutation	SNP	C	C3N-00560_TP	1141844	80137260	236025	1139	19078											
RNF126	0	.	GRCh38	chr19	651759	651759	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtcgtcagcctgcgcccCaggagggaacgtggggatct	6	6	16	13	4	2	0	1	0	1	0	3	3	2	3	4	4	3	0	4	4	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.295G>C	p.Gly99Arg	p.G99R	ENST00000292363	4/9	143	78	65	158	158	0	strelka-varscan-mutect	RNF126,missense_variant,p.Gly99Arg,ENST00000292363,NM_194460.2;RNF126,missense_variant,p.Gly99Arg,ENST00000589762,;RNF126,non_coding_transcript_exon_variant,,ENST00000590885,;RNF126,3_prime_UTR_variant,,ENST00000605891,;RNF126,non_coding_transcript_exon_variant,,ENST00000591394,;RNF126,upstream_gene_variant,,ENST00000586749,;RNF126,downstream_gene_variant,,ENST00000592626,;	G	ENST00000292363	Transcript	missense_variant	451/1694	295/936	99/311	G/R	Ggg/Cgg		1		-1	RNF126	HGNC	HGNC:21151	protein_coding	YES	CCDS12039.1	ENSP00000292363	Q9BV68	A0A024R206	UPI000006F904	NM_194460.2	tolerated(0.13)		4/9		hmmpanther:PTHR22763:SF81,hmmpanther:PTHR22763																	MODERATE	1	SNV	1			1										PASS		rs1170960424	.												G	3	3	57	651759	651759	C	G	1	0	0	0	0	1	0	0	0	13613	594	21	4		4	RNF126	19	651759	Missense_Mutation	SNP	C	C3N-00560_TP		651759	57965857	1140	19079											
R3HDM4	0	.	GRCh38	chr19	901488	901488	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgcagggggtgccaagtcCccatcctccaggccaggcag	8	5	14	14	0	0	0	0	0	0	0	3	1	3	0	6	4	2	2	6	4	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.285G>A	p.=	p.G95G	ENST00000361574	3/8	203	82	121	192	192	0	strelka-varscan-mutect	R3HDM4,synonymous_variant,p.=,ENST00000361574,NM_138774.3;R3HDM4,synonymous_variant,p.=,ENST00000587975,;R3HDM4,downstream_gene_variant,,ENST00000626716,;R3HDM4,non_coding_transcript_exon_variant,,ENST00000591829,;R3HDM4,3_prime_UTR_variant,,ENST00000590454,;R3HDM4,intron_variant,,ENST00000589428,;R3HDM4,downstream_gene_variant,,ENST00000589445,;R3HDM4,upstream_gene_variant,,ENST00000586080,;	T	ENST00000361574	Transcript	synonymous_variant	359/1815	285/807	95/268	G	ggG/ggA		1		-1	R3HDM4	HGNC	HGNC:28270	protein_coding	YES	CCDS12048.1	ENSP00000355385	Q96D70		UPI00001B50F1	NM_138774.3			3/8		Pfam_domain:PF13902,hmmpanther:PTHR32019,hmmpanther:PTHR32019:SF2,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	901488	901488	C	T	1	0	0	0	0	0	0	0	1	13046	610	22	3		3	R3HDM4	19	901488	Silent	SNP	C	C3N-00560_TP	249729	901488	57716128	1141	19080											
SBNO2	0	.	GRCh38	chr19	1110829	1110829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagtactggaacagggCgttctgcttgtgcacctcca	9	10	12	10	1	1	1	0	1	1	1	2	3	2	2	2	2	4	4	2	2	3	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2944G>T	p.Ala982Ser	p.A982S	ENST00000361757	26/32	195	100	95	199	199	0	strelka-varscan-mutect	SBNO2,missense_variant,p.Ala982Ser,ENST00000361757,NM_014963.2;SBNO2,missense_variant,p.Ala972Ser,ENST00000587024,;SBNO2,missense_variant,p.Ala925Ser,ENST00000438103,NM_001100122.1;GPX4,downstream_gene_variant,,ENST00000622390,NM_001039848.2;GPX4,downstream_gene_variant,,ENST00000616066,NM_001039847.2;GPX4,downstream_gene_variant,,ENST00000354171,NM_002085.4;GPX4,downstream_gene_variant,,ENST00000589115,;GPX4,downstream_gene_variant,,ENST00000588919,;GPX4,downstream_gene_variant,,ENST00000611653,;GPX4,downstream_gene_variant,,ENST00000593032,;GPX4,downstream_gene_variant,,ENST00000587648,;SBNO2,non_coding_transcript_exon_variant,,ENST00000587673,;SBNO2,non_coding_transcript_exon_variant,,ENST00000586109,;SBNO2,downstream_gene_variant,,ENST00000592222,;GPX4,downstream_gene_variant,,ENST00000592940,;GPX4,downstream_gene_variant,,ENST00000585480,;	A	ENST00000361757	Transcript	missense_variant	3182/4923	2944/4101	982/1366	A/S	Gcc/Tcc		1		-1	SBNO2	HGNC	HGNC:29158	protein_coding	YES	CCDS45894.1	ENSP00000354733	Q9Y2G9		UPI0000140680	NM_014963.2	tolerated(0.37)		26/32		Pfam_domain:PF13871,hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF5																	MODERATE	1	SNV	1			1										PASS		rs1276168951	.												A	3	1	57	1110829	1110829	C	A	1	0	0	0	0	1	0	0	0	14128	768	27	1		1	SBNO2	19	1110829	Missense_Mutation	SNP	C	C3N-00560_TP	209341	1110829	57506787	1142	19081											
DAZAP1	0	.	GRCh38	chr19	1428869	1428869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaaacgagctgagcctcggGacagcaagagccaagcgccg	12	4	13	12	4	0	2	0	1	0	1	1	4	0	3	3	1	6	2	3	1	4	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.574G>T	p.Asp192Tyr	p.D192Y	ENST00000233078	8/12	202	97	105	170	170	0	strelka-varscan-mutect	DAZAP1,missense_variant,p.Asp192Tyr,ENST00000336761,NM_170711.2;DAZAP1,missense_variant,p.Asp192Tyr,ENST00000233078,NM_018959.3;DAZAP1,missense_variant,p.Asp192Tyr,ENST00000592522,;DAZAP1,missense_variant,p.Asp191Tyr,ENST00000587079,;DAZAP1,missense_variant,p.Asp170Tyr,ENST00000592453,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000586579,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000585485,;DAZAP1,non_coding_transcript_exon_variant,,ENST00000589484,;DAZAP1,upstream_gene_variant,,ENST00000589874,;	T	ENST00000233078	Transcript	missense_variant	735/2160	574/1224	192/407	D/Y	Gac/Tac		1		1	DAZAP1	HGNC	HGNC:2683	protein_coding	YES	CCDS12065.1	ENSP00000233078	Q96EP5	A0A0S2Z569	UPI00000728D6	NM_018959.3	deleterious(0)		8/12		hmmpanther:PTHR24012:SF489,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	1428869	1428869	G	T	1	0	0	0	0	1	0	0	0	4045	1174	41	2		2	DAZAP1	19	1428869	Missense_Mutation	SNP	G	C3N-00560_TP	318040	1428869	57188747	1143	19082											
MATK	0	.	GRCh38	chr19	3783920	3783920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgcggccaaagctcacgCacaggacgtagtcgccgggg	8	4	15	14	7	1	0	1	0	0	0	3	1	1	1	2	4	1	3	2	4	2	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.479G>T	p.Cys160Phe	p.C160F	ENST00000395045	6/14	222	94	128	265	265	0	strelka-varscan-mutect	MATK,missense_variant,p.Cys159Phe,ENST00000310132,NM_139355.2;MATK,missense_variant,p.Cys160Phe,ENST00000395045,NM_002378.3;MATK,missense_variant,p.Cys159Phe,ENST00000585778,;MATK,missense_variant,p.Cys118Phe,ENST00000395040,NM_139354.2;MATK,missense_variant,p.Cys160Phe,ENST00000619596,;MATK,missense_variant,p.Cys48Phe,ENST00000590493,;MATK,missense_variant,p.Cys40Phe,ENST00000587180,;MATK,missense_variant,p.Cys159Phe,ENST00000590028,;MATK,upstream_gene_variant,,ENST00000588983,;MATK,downstream_gene_variant,,ENST00000591059,;MATK,downstream_gene_variant,,ENST00000590849,;MATK,downstream_gene_variant,,ENST00000590980,;MATK,downstream_gene_variant,,ENST00000590821,;	A	ENST00000395045	Transcript	missense_variant	817/2073	479/1527	160/508	C/F	tGc/tTc		1		-1	MATK	HGNC	HGNC:6906	protein_coding	YES	CCDS12113.1	ENSP00000378485	P42679		UPI000013FB32	NM_002378.3	deleterious(0)		6/14		PROSITE_profiles:PS50001,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF268,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401																	MODERATE	1	SNV	2			1										PASS		rs1330705409	.												A	3	1	57	3783920	3783920	C	A	1	0	0	0	0	1	0	0	0	9258	710	25	2		2	MATK	19	3783920	Missense_Mutation	SNP	C	C3N-00560_TP	2355051	3783920	54833696	1144	19083											
ZFR2	0	.	GRCh38	chr19	3827556	3827556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtcgcaatgcagctgcGcctgcaccccgcgcgggctc	6	5	13	17	5	0	0	0	0	0	0	2	0	0	0	3	2	4	5	3	2	1	0	rs564576533		C3N-00560_TP	C3N-00560_NB	G	G																c.950C>A	p.Ala317Glu	p.A317E	ENST00000262961	6/19	207	86	121	233	233	0	strelka-varscan-mutect	ZFR2,missense_variant,p.Ala317Glu,ENST00000262961,NM_015174.1;ZFR2,downstream_gene_variant,,ENST00000591965,;ZFR2,missense_variant,p.Ala317Glu,ENST00000438164,;	T	ENST00000262961	Transcript	missense_variant	961/4756	950/2820	317/939	A/E	gCg/gAg	rs564576533	1		-1	ZFR2	HGNC	HGNC:29189	protein_coding	YES	CCDS45921.1	ENSP00000262961	Q9UPR6		UPI0000DD84BE	NM_015174.1	tolerated(0.1)		6/19		hmmpanther:PTHR10910:SF85,hmmpanther:PTHR10910,SMART_domains:SM00451,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		rs564576533	.												T	3	4	57	3827556	3827556	G	T	1	0	0	0	0	1	0	0	0	18238	1087	38	1		1	ZFR2	19	3827556	Missense_Mutation	SNP	G	C3N-00560_TP	43636	3827556	54790060	1145	19084											
MAP2K2	0	.	GRCh38	chr19	4101032	4101032	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcacagccatgtaggagCgcgtgcccacgaaggagttg	10	6	14	11	3	1	0	1	0	0	0	1	4	1	2	2	2	3	2	2	2	2	2	rs730880511		C3N-00560_TP	C3N-00560_NB	C	C																c.692G>T	p.Arg231Leu	p.R231L	ENST00000262948	6/11	170	90	80	190	190	0	strelka-varscan-mutect	MAP2K2,missense_variant,p.Arg231Leu,ENST00000262948,NM_030662.3;MAP2K2,missense_variant,p.Arg134Leu,ENST00000394867,;MAP2K2,synonymous_variant,p.=,ENST00000599021,;MAP2K2,non_coding_transcript_exon_variant,,ENST00000593364,;MAP2K2,non_coding_transcript_exon_variant,,ENST00000597263,;MAP2K2,non_coding_transcript_exon_variant,,ENST00000602167,;MAP2K2,downstream_gene_variant,,ENST00000599345,;MAP2K2,upstream_gene_variant,,ENST00000595715,;MAP2K2,non_coding_transcript_exon_variant,,ENST00000601786,;MAP2K2,non_coding_transcript_exon_variant,,ENST00000597008,;MAP2K2,upstream_gene_variant,,ENST00000600584,;	A	ENST00000262948	Transcript	missense_variant	946/1734	692/1203	231/400	R/L	cGc/cTc	rs730880511	1		-1	MAP2K2	HGNC	HGNC:6842	protein_coding	YES	CCDS12120.1	ENSP00000262948	P36507		UPI000012F489	NM_030662.3	deleterious(0)		6/11		PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF314,hmmpanther:PTHR24361,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112										likely_pathogenic							MODERATE	1	SNV	1		1	1										PASS		rs730880511	.												A	3	1	57	4101032	4101032	C	A	1	0	0	0	0	1	0	0	0	9159	768	27	1		1	MAP2K2	19	4101032	Missense_Mutation	SNP	C	C3N-00560_TP	273476	4101032	54516584	1146	19085											
ADGRE1	0	.	GRCh38	chr19	6897253	6897253	+	Frame_Shift_Del	DEL	C	C	-																															gtttagatggtttctcttctCccactggaaatgactgggtc																								rs755844453		C3N-00560_TP	C3N-00560_NB	C	C																c.345delC	p.Thr116LeufsTer95	p.T116Lfs*95	ENST00000312053	4/21	170	80	90	152	152	0	sindel-varindel-pindel	ADGRE1,frameshift_variant,p.Thr116LeufsTer95,ENST00000312053,NM_001974.4;ADGRE1,frameshift_variant,p.Thr116LeufsTer95,ENST00000250572,NM_001256253.1;ADGRE1,frameshift_variant,p.Thr116LeufsTer34,ENST00000450315,NM_001256255.1;ADGRE1,frameshift_variant,p.Thr82LeufsTer95,ENST00000595026,;ADGRE1,intron_variant,,ENST00000381404,NM_001256252.1;ADGRE1,intron_variant,,ENST00000381407,NM_001256254.1;ADGRE1,non_coding_transcript_exon_variant,,ENST00000601198,;CTC-312O10.3,upstream_gene_variant,,ENST00000624996,;ADGRE1,non_coding_transcript_exon_variant,,ENST00000596944,;CTC-312O10.2,upstream_gene_variant,,ENST00000595362,;	-	ENST00000312053	Transcript	frameshift_variant	380/3128	343/2661	115/886	P/X	Ccc/cc	rs755844453,COSM3541120	1		1	ADGRE1	HGNC	HGNC:3336	protein_coding	YES	CCDS12175.1	ENSP00000311545	Q14246		UPI0000203241	NM_001974.4			4/21		PROSITE_profiles:PS50026,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF303,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,SMART_domains:SM00181											0,1						HIGH	1	deletion	1	2	0,1	1										PASS		.	.												-	7	5	57	6897253	6897253	C	-	1	0	1	0	1	0	0	0	0	359	855	30	0		0	ADGRE1	19	6897253	Frame_Shift_Del	DEL	C	C3N-00560_TP	2796221	6897253	51720363	1147	19086											
INSR	0	.	GRCh38	chr19	7132257	7132257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagttccccggtgacagccCacgcagcctgcagccccgtt	6	7	11	17	3	0	1	0	1	0	0	1	1	1	1	6	1	4	5	6	1	1	3			C3N-00560_TP	C3N-00560_NB	C	C																c.2743G>T	p.Gly915Trp	p.G915W	ENST00000302850	14/22	390	167	223	360	359	1	strelka-varscan-mutect	INSR,missense_variant,p.Gly903Trp,ENST00000341500,NM_001079817.1;INSR,missense_variant,p.Gly915Trp,ENST00000302850,NM_000208.2;	A	ENST00000302850	Transcript	missense_variant	2886/4721	2743/4149	915/1382	G/W	Ggg/Tgg	COSM4648348,COSM4648349	1		-1	INSR	HGNC	HGNC:6091	protein_coding	YES	CCDS12176.1	ENSP00000303830	P06213		UPI000020324D	NM_000208.2	deleterious(0.02)		14/22		Gene3D:2.60.40.10,PIRSF_domain:PIRSF000620,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF325,SMART_domains:SM00060,Superfamily_domains:SSF49265											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	57	7132257	7132257	C	A	1	0	0	0	0	1	0	0	0	7675	594	21	2		2	INSR	19	7132257	Missense_Mutation	SNP	C	C3N-00560_TP	235004	7132257	51485359	1148	19087											
ZNF358	0	.	GRCh38	chr19	7519896	7519896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcggcaaggccttcggctgGcgctccacgctgctgaaaca	7	7	13	14	4	0	1	0	1	0	0	2	1	1	1	2	4	3	5	2	4	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.654G>T	p.Trp218Cys	p.W218C	ENST00000597229	2/2	138	62	76	109	109	0	strelka-varscan-mutect	ZNF358,missense_variant,p.Trp218Cys,ENST00000597229,NM_018083.4;MCOLN1,upstream_gene_variant,,ENST00000264079,NM_020533.2;MCOLN1,upstream_gene_variant,,ENST00000601003,;ZNF358,downstream_gene_variant,,ENST00000596712,;CTD-2207O23.12,downstream_gene_variant,,ENST00000599312,;CTD-2207O23.11,downstream_gene_variant,,ENST00000602083,;MCOLN1,upstream_gene_variant,,ENST00000394321,;MCOLN1,upstream_gene_variant,,ENST00000596390,;CTD-2207O23.12,downstream_gene_variant,,ENST00000597384,;	T	ENST00000597229	Transcript	missense_variant	824/1954	654/1707	218/568	W/C	tgG/tgT		1		1	ZNF358	HGNC	HGNC:16838	protein_coding	YES	CCDS32890.2	ENSP00000472305	Q9NW07		UPI0000201F0C	NM_018083.4	tolerated(0.18)		2/2		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	57	7519896	7519896	G	T	1	0	0	0	0	1	0	0	0	18439	1212	42	2		2	ZNF358	19	7519896	Missense_Mutation	SNP	G	C3N-00560_TP	387639	7519896	51097720	1149	19088											
FCER2	0	.	GRCh38	chr19	7697011	7697011	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcccctcccaagcctcAccctgggacttgaagctgct	7	8	7	19	0	1	1	1	1	0	0	3	2	3	2	6	1	3	2	6	1	2	1	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.379+2T>A		p.X127_splice	ENST00000346664		180	85	95	174	173	1	strelka-varscan-mutect	FCER2,splice_donor_variant,,ENST00000346664,NM_002002.4,NM_001220500.1;FCER2,splice_donor_variant,,ENST00000597921,;FCER2,splice_donor_variant,,ENST00000360067,NM_001207019.2;FCER2,intron_variant,,ENST00000593418,;FCER2,splice_donor_variant,,ENST00000597312,;FCER2,splice_donor_variant,,ENST00000598803,;FCER2,splice_donor_variant,,ENST00000597934,;	T	ENST00000346664	Transcript	splice_donor_variant	-/1596	379/966	127/321				1		-1	FCER2	HGNC	HGNC:3612	protein_coding	YES	CCDS12184.1	ENSP00000264072	P06734		UPI000002BEF3	NM_002002.4,NM_001220500.1				7/10																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	57	7697011	7697011	A	T	1	0	0	0	0	0	0	1	0	5639	173	6	4		4	FCER2	19	7697011	Splice_Site	SNP	A	C3N-00560_TP	177115	7697011	50920605	1150	19089											
MUC16	0	.	GRCh38	chr19	8958917	8958917	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagggagagcagaagtGgggctacttcctgatactgc	10	8	14	9	0	1	3	1	1	0	2	2	4	2	3	1	3	4	2	1	3	3	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.17853C>A	p.=	p.P5951P	ENST00000397910	3/84	248	122	126	207	206	1	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	synonymous_variant	18057/43816	17853/43524	5951/14507	P	ccC/ccA		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	57	8958917	8958917	G	T	1	0	0	0	0	0	0	0	1	9972	1335	47	2		2	MUC16	19	8958917	Silent	SNP	G	C3N-00560_TP	1261906	8958917	49658699	1151	19090											
MUC16	0	.	GRCh38	chr19	8976386	8976386	+	Frame_Shift_Del	DEL	G	G	-																															agggtagacttcagtaagatGggaaggggatgctgaggctg																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4753delC	p.His1585IlefsTer63	p.H1585Ifs*63	ENST00000397910	1/84	163	65	98	191	191	0	sindel-varindel-pindel	MUC16,frameshift_variant,p.His1585IlefsTer63,ENST00000397910,NM_024690.2;	-	ENST00000397910	Transcript	frameshift_variant	4957/43816	4753/43524	1585/14507	H/X	Cat/at		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84																			HIGH	1	deletion	5			1										PASS		.	.												-	7	5	57	8976386	8976386	G	-	1	0	1	0	1	0	0	0	0	9972	1348	47	0		0	MUC16	19	8976386	Frame_Shift_Del	DEL	G	C3N-00560_TP	17469	8976386	49641230	1152	19091											
MUC16	0	.	GRCh38	chr19	8978816	8978816	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttgttgctgcattgcttaGggtcatggaggaaagaacgg	10	11	14	6	1	1	1	1	0	0	1	1	3	1	3	0	4	4	4	0	4	3	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2323C>G	p.Leu775Val	p.L775V	ENST00000397910	1/84	167	141	26	181	181	0	strelka-mutect	MUC16,missense_variant,p.Leu775Val,ENST00000397910,NM_024690.2;	C	ENST00000397910	Transcript	missense_variant	2527/43816	2323/43524	775/14507	L/V	Cta/Gta		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	57	8978816	8978816	G	C	1	0	0	0	0	1	0	0	0	9972	991	35	4		4	MUC16	19	8978816	Missense_Mutation	SNP	G	C3N-00560_TP	2430	8978816	49638800	1153	19092											
ICAM5	0	.	GRCh38	chr19	10292815	10292815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgacgccaccctcgatGtggacggggagaccctgatc	7	7	13	14	4	1	2	0	1	1	1	3	6	1	3	3	3	1	0	3	3	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1165G>T	p.Val389Leu	p.V389L	ENST00000221980	5/11	208	96	112	218	218	0	strelka-varscan-mutect	ICAM5,missense_variant,p.Val389Leu,ENST00000221980,NM_003259.3;ICAM4,downstream_gene_variant,,ENST00000393717,NM_022377.3;ICAM4,downstream_gene_variant,,ENST00000380770,NM_001544.4;ICAM4,downstream_gene_variant,,ENST00000340992,NM_001039132.2;ICAM5,downstream_gene_variant,,ENST00000587398,;CTD-2369P2.8,upstream_gene_variant,,ENST00000589379,;ICAM5,downstream_gene_variant,,ENST00000586004,;ICAM5,non_coding_transcript_exon_variant,,ENST00000586480,;ICAM5,downstream_gene_variant,,ENST00000588912,;	T	ENST00000221980	Transcript	missense_variant	1228/3000	1165/2775	389/924	V/L	Gtg/Ttg		1		1	ICAM5	HGNC	HGNC:5348	protein_coding	YES	CCDS12233.1	ENSP00000221980	Q9UMF0		UPI000013C7E4	NM_003259.3	tolerated(0.1)		5/11		Gene3D:2.60.40.10,hmmpanther:PTHR13771,hmmpanther:PTHR13771:SF9,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	10292815	10292815	G	T	1	0	0	0	0	1	0	0	0	7383	1377	48	2		2	ICAM5	19	10292815	Missense_Mutation	SNP	G	C3N-00560_TP	1313999	10292815	48324801	1154	19093											
SMARCA4	0	.	GRCh38	chr19	11025482	11025482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcggaagatctgcaacCacccctacatgttccagcac	11	7	8	15	1	1	1	0	0	1	1	2	2	2	2	4	1	6	4	4	1	3	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3142C>T	p.His1048Tyr	p.H1048Y	ENST00000429416	23/36	503	252	251	453	453	0	strelka-varscan-mutect	SMARCA4,missense_variant,p.His1048Tyr,ENST00000429416,NM_001128844.1;SMARCA4,missense_variant,p.His1112Tyr,ENST00000413806,;SMARCA4,missense_variant,p.His1048Tyr,ENST00000450717,NM_001128849.1;SMARCA4,missense_variant,p.His1048Tyr,ENST00000344626,NM_003072.3;SMARCA4,missense_variant,p.His1048Tyr,ENST00000590574,NM_001128847.1;SMARCA4,missense_variant,p.His1048Tyr,ENST00000589677,NM_001128846.1;SMARCA4,missense_variant,p.His1048Tyr,ENST00000541122,NM_001128845.1;SMARCA4,missense_variant,p.His1048Tyr,ENST00000444061,NM_001128848.1;SMARCA4,downstream_gene_variant,,ENST00000586122,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,downstream_gene_variant,,ENST00000587988,;	T	ENST00000429416	Transcript	missense_variant	3423/5691	3142/4944	1048/1647	H/Y	Cac/Tac		1		1	SMARCA4	HGNC	HGNC:11100	protein_coding	YES	CCDS12253.1	ENSP00000395654	P51532	A7E2E1	UPI000006F973	NM_001128844.1	deleterious(0)		23/36		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,Pfam_domain:PF00176,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	11025482	11025482	C	T	1	0	0	0	0	1	0	0	0	15063	594	21	3		3	SMARCA4	19	11025482	Missense_Mutation	SNP	C	C3N-00560_TP	732667	11025482	47592134	1155	19094											
ZNF700	0	.	GRCh38	chr19	11947196	11947196	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggacccagtggcctttGaggatgtggctgtgaacttc	7	12	13	9	0	1	2	1	2	0	0	2	4	1	4	2	4	1	1	2	4	1	3			C3N-00560_TP	C3N-00560_NB	G	G																c.88G>T	p.Glu30Ter	p.E30*	ENST00000622593	2/4	140	77	63	138	138	0	strelka-varscan-mutect	ZNF700,stop_gained,p.Glu9Ter,ENST00000482090,;ZNF700,stop_gained,p.Glu30Ter,ENST00000622593,NM_001271848.1;ZNF700,stop_gained,p.Glu27Ter,ENST00000254321,NM_144566.2;CTD-2006C1.13,intron_variant,,ENST00000590798,;CTD-2006C1.13,intron_variant,,ENST00000591944,;CTD-2006C1.12,intron_variant,,ENST00000586394,;CTD-2006C1.13,intron_variant,,ENST00000591441,;CTD-2006C1.13,upstream_gene_variant,,ENST00000586354,;	T	ENST00000622593	Transcript	stop_gained	231/2901	88/2238	30/745	E/*	Gag/Tag	COSM3959539	1		1	ZNF700	HGNC	HGNC:25292	protein_coding	YES	CCDS74289.1	ENSP00000479449		A0A087WVH9	UPI0002A097BD	NM_001271848.1			2/4		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF24,SMART_domains:SM00349											1						HIGH		SNV	4		1	1										PASS		.	.												T	4	4	57	11947196	11947196	G	T	1	0	0	0	0	0	1	0	0	18677	1291	45	2		2	ZNF700	19	11947196	Nonsense_Mutation	SNP	G	C3N-00560_TP	921714	11947196	46670420	1156	19095											
CACNA1A	0	.	GRCh38	chr19	13455145	13455145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttgtcatcatcaggcaGatgctgctccagtgcgagga	8	10	13	10	1	4	1	3	0	1	1	5	3	5	2	1	3	3	3	1	3	0	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.361C>A	p.Leu121Met	p.L121M	ENST00000360228	2/47	111	47	64	102	102	0	strelka-varscan-mutect	CACNA1A,missense_variant,p.Leu121Met,ENST00000638009,NM_001127221.1;CACNA1A,missense_variant,p.Leu121Met,ENST00000635895,;CACNA1A,missense_variant,p.Leu121Met,ENST00000637769,;CACNA1A,missense_variant,p.Leu121Met,ENST00000360228,NM_001127222.1;CACNA1A,missense_variant,p.Leu121Met,ENST00000614285,;CACNA1A,missense_variant,p.Leu121Met,ENST00000636389,;CACNA1A,missense_variant,p.Leu121Met,ENST00000638029,NM_023035.2;CACNA1A,missense_variant,p.Leu121Met,ENST00000637432,NM_000068.3;CACNA1A,missense_variant,p.Leu121Met,ENST00000573710,;CACNA1A,missense_variant,p.Leu121Met,ENST00000635727,;CACNA1A,missense_variant,p.Leu121Met,ENST00000636012,;CACNA1A,missense_variant,p.Leu121Met,ENST00000637276,;CACNA1A,missense_variant,p.Leu121Met,ENST00000637927,;CACNA1A,missense_variant,p.Leu121Met,ENST00000636549,NM_001174080.1;CACNA1A,missense_variant,p.Leu38Met,ENST00000574974,;CACNA1A,intron_variant,,ENST00000637736,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000637966,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000636966,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000637616,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000593160,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000637981,;	T	ENST00000360228	Transcript	missense_variant	596/8627	361/7521	121/2506	L/M	Ctg/Atg		1		-1	CACNA1A	HGNC	HGNC:1388	protein_coding	YES	CCDS45998.1	ENSP00000353362	O00555		UPI0000141565	NM_001127222.1	deleterious(0)		2/47		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	13455145	13455145	G	T	1	0	0	0	0	1	0	0	0	2226	933	33	2		2	CACNA1A	19	13455145	Missense_Mutation	SNP	G	C3N-00560_TP	1507949	13455145	45162471	1157	19096											
ADGRE2	0	.	GRCh38	chr19	14743663	14743663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgaagacaccctgcaGgctgttgatgatggtgaaga	13	8	14	6	0	0	7	0	4	0	3	0	8	0	7	1	2	1	3	1	2	3	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2305C>A	p.Leu769Met	p.L769M	ENST00000315576	19/21	191	89	102	159	159	0	strelka-varscan-mutect	ADGRE2,missense_variant,p.Leu769Met,ENST00000315576,NM_013447.3;ADGRE2,missense_variant,p.Leu758Met,ENST00000601345,;ADGRE2,missense_variant,p.Leu758Met,ENST00000596991,;ADGRE2,missense_variant,p.Leu711Met,ENST00000392965,NM_001271052.1;ADGRE2,missense_variant,p.Leu720Met,ENST00000594294,;ADGRE2,missense_variant,p.Leu676Met,ENST00000594076,;ADGRE2,missense_variant,p.Leu627Met,ENST00000595839,;ADGRE2,non_coding_transcript_exon_variant,,ENST00000360222,;ADGRE2,downstream_gene_variant,,ENST00000595208,;	T	ENST00000315576	Transcript	missense_variant	2757/6767	2305/2472	769/823	L/M	Ctg/Atg		1		-1	ADGRE2	HGNC	HGNC:3337	protein_coding	YES	CCDS32935.1	ENSP00000319883	Q9UHX3		UPI000016393A	NM_013447.3	deleterious(0)		19/21		Pfam_domain:PF00002,Prints_domain:PR00249,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF286,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	14743663	14743663	G	T	1	0	0	0	0	1	0	0	0	360	991	35	2		2	ADGRE2	19	14743663	Missense_Mutation	SNP	G	C3N-00560_TP	1288518	14743663	43873953	1158	19097											
ADGRE2	0	.	GRCh38	chr19	14765774	14765774	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggtggagctgtcacacTgatgctgcccggagctgcac	8	7	14	12	2	1	2	1	1	0	1	1	4	1	4	1	3	5	4	1	3	0	0	rs762072283		C3N-00560_TP	C3N-00560_NB	T	T																c.665A>T	p.Gln222Leu	p.Q222L	ENST00000315576	8/21	204	141	63	190	190	0	strelka-varscan-mutect	ADGRE2,missense_variant,p.Gln222Leu,ENST00000315576,NM_013447.3;ADGRE2,missense_variant,p.Gln222Leu,ENST00000601345,;ADGRE2,missense_variant,p.Gln222Leu,ENST00000596991,;ADGRE2,missense_variant,p.Gln222Leu,ENST00000392965,NM_001271052.1;ADGRE2,missense_variant,p.Gln173Leu,ENST00000594294,;ADGRE2,missense_variant,p.Gln129Leu,ENST00000594076,;ADGRE2,intron_variant,,ENST00000595839,;ADGRE2,downstream_gene_variant,,ENST00000599423,;ADGRE2,downstream_gene_variant,,ENST00000601619,;ADGRE2,missense_variant,p.Gln66Leu,ENST00000595208,;ADGRE2,missense_variant,p.Gln173Leu,ENST00000392962,;ADGRE2,non_coding_transcript_exon_variant,,ENST00000360222,;	A	ENST00000315576	Transcript	missense_variant	1117/6767	665/2472	222/823	Q/L	cAg/cTg	rs762072283	1		-1	ADGRE2	HGNC	HGNC:3337	protein_coding	YES	CCDS32935.1	ENSP00000319883	Q9UHX3		UPI000016393A	NM_013447.3	tolerated(0.08)		8/21		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF286,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		rs762072283	.												A	3	1	57	14765774	14765774	T	A	1	0	0	0	0	1	0	0	0	360	1580	55	4		4	ADGRE2	19	14765774	Missense_Mutation	SNP	T	C3N-00560_TP	22111	14765774	43851842	1159	19098											
KCNN1	0	.	GRCh38	chr19	17974050	17974050	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtgagccagcccggccCtcacccggcagcccccgggg	7	2	14	18	3	1	2	1	1	0	1	1	2	1	2	6	4	3	1	6	4	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.162C>A	p.=	p.P54P	ENST00000222249	3/11	197	79	118	167	167	0	strelka-varscan-mutect	KCNN1,synonymous_variant,p.=,ENST00000222249,NM_002248.4;KCNN1,synonymous_variant,p.=,ENST00000615435,;KCNN1,synonymous_variant,p.=,ENST00000609922,;RNA5SP468,downstream_gene_variant,,ENST00000516782,;	A	ENST00000222249	Transcript	synonymous_variant	481/3625	162/1632	54/543	P	ccC/ccA		1		1	KCNN1	HGNC	HGNC:6290	protein_coding	YES	CCDS67611.1	ENSP00000476519	Q92952		UPI00001649F9	NM_002248.4			3/11		Low_complexity_(Seg):seg,hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF38																	LOW	1	SNV	1			1										PASS		rs1299315675	.												A	2	1	57	17974050	17974050	C	A	1	0	0	0	0	0	0	0	1	7994	668	24	2		2	KCNN1	19	17974050	Silent	SNP	C	C3N-00560_TP	3208276	17974050	40643566	1160	19099											
SLC25A42	0	.	GRCh38	chr19	19110667	19110667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcgtacccgctggatgtgGtgcggcggcgcatgcagacg	5	7	16	13	6	0	1	0	0	0	1	1	2	0	2	2	4	3	4	2	4	1	1			C3N-00560_TP	C3N-00560_NB	G	G																c.748G>T	p.Val250Leu	p.V250L	ENST00000318596	8/8	174	76	98	169	169	0	strelka-varscan-mutect	SLC25A42,missense_variant,p.Val250Leu,ENST00000318596,NM_001321544.1,NM_178526.4;SLC25A42,downstream_gene_variant,,ENST00000600275,;SLC25A42,downstream_gene_variant,,ENST00000594070,;SLC25A42,downstream_gene_variant,,ENST00000596819,;SLC25A42,downstream_gene_variant,,ENST00000597661,;	T	ENST00000318596	Transcript	missense_variant	899/3120	748/957	250/318	V/L	Gtg/Ttg	COSM4632203	1		1	SLC25A42	HGNC	HGNC:28380	protein_coding	YES	CCDS32966.1	ENSP00000326693	Q86VD7	A0A024R7K2	UPI0000198748	NM_001321544.1,NM_178526.4	deleterious(0.01)		8/8		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF242,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588,Prints_domain:PR00926											1						MODERATE	1	SNV	1		1	1										PASS		rs1375781278	.												T	3	4	57	19110667	19110667	G	T	1	0	0	0	0	1	0	0	0	14772	1261	44	2		2	SLC25A42	19	19110667	Missense_Mutation	SNP	G	C3N-00560_TP	1136617	19110667	39506949	1161	19100											
NCAN	0	.	GRCh38	chr19	19249820	19249820	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccaacaccaccaccAgcatcaccaccacaaatccc	15	2	1	23	0	1	0	1	0	0	0	2	0	2	0	9	0	2	1	9	0	2	0	rs775943135		C3N-00560_TP	C3N-00560_NB	A	A																c.3875A>T	p.Gln1292Leu	p.Q1292L	ENST00000252575	15/15	109	49	60	101	101	0	strelka-varscan-mutect	NCAN,missense_variant,p.Gln1292Leu,ENST00000252575,NM_004386.2;NCAN,missense_variant,p.Gln146Leu,ENST00000588231,;AC138430.4,downstream_gene_variant,,ENST00000586064,;NCAN,downstream_gene_variant,,ENST00000585410,;	T	ENST00000252575	Transcript	missense_variant	3974/6387	3875/3966	1292/1321	Q/L	cAg/cTg	rs775943135,COSM4075902,COSM4075903	1		1	NCAN	HGNC	HGNC:2465	protein_coding	YES	CCDS12397.1	ENSP00000252575	O14594	A0A024R7M3	UPI000013CD70	NM_004386.2	tolerated(0.06)		15/15		Low_complexity_(Seg):seg,hmmpanther:PTHR22804:SF24,hmmpanther:PTHR22804											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs775943135	.												T	3	4	57	19249820	19249820	A	T	1	0	0	0	0	1	0	0	0	10220	188	7	4		4	NCAN	19	19249820	Missense_Mutation	SNP	A	C3N-00560_TP	139153	19249820	39367796	1162	19101											
CILP2	0	.	GRCh38	chr19	19544453	19544453	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgacggcgagctggctccActgcgcacctacggcatgtt	7	7	13	14	5	0	0	0	0	0	0	1	2	1	0	2	3	4	5	2	3	1	2	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1908A>T	p.=	p.P636P	ENST00000291495	8/8	184	87	97	174	174	0	strelka-varscan-mutect	CILP2,synonymous_variant,p.=,ENST00000586018,;CILP2,synonymous_variant,p.=,ENST00000291495,NM_153221.2;CILP2,downstream_gene_variant,,ENST00000588333,;	T	ENST00000291495	Transcript	synonymous_variant	1993/4199	1908/3471	636/1156	P	ccA/ccT		1		1	CILP2	HGNC	HGNC:24213	protein_coding	YES	CCDS12405.1	ENSP00000291495	Q8IUL8		UPI000013E04D	NM_153221.2			8/8		hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF0																	LOW	1	SNV	1			1										PASS		rs1182711800	.												T	2	4	57	19544453	19544453	A	T	1	0	0	0	0	0	0	0	1	3192	146	6	4		4	CILP2	19	19544453	Silent	SNP	A	C3N-00560_TP	294633	19544453	39073163	1163	19102											
ZNF91	0	.	GRCh38	chr19	23373777	23373777	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatctcatgttgcttcataTtccagggctcttttccttgc	5	17	6	13	0	3	0	2	0	2	0	6	0	5	0	3	1	2	3	3	1	1	7	rs757869359		C3N-00560_TP	C3N-00560_NB	T	T																c.218A>G	p.Asn73Ser	p.N73S	ENST00000300619	3/4	103	67	36	136	136	0	strelka-varscan-mutect	ZNF91,missense_variant,p.Asn73Ser,ENST00000300619,NM_003430.3;ZNF91,missense_variant,p.Asn73Ser,ENST00000599743,;ZNF91,intron_variant,,ENST00000397082,NM_001300951.1;ZNF91,intron_variant,,ENST00000595533,;ZNF91,non_coding_transcript_exon_variant,,ENST00000596989,;	C	ENST00000300619	Transcript	missense_variant	424/5489	218/3576	73/1191	N/S	aAt/aGt	rs757869359	1		-1	ZNF91	HGNC	HGNC:13166	protein_coding	YES	CCDS42541.1	ENSP00000300619	Q05481		UPI00002038F9	NM_003430.3	tolerated(0.73)		3/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF195,SMART_domains:SM00349																	MODERATE	1	SNV	1			1										PASS		rs757869359	.												C	3	2	57	23373777	23373777	T	C	1	0	0	0	0	1	0	0	0	18793	1493	52	5		5	ZNF91	19	23373777	Missense_Mutation	SNP	T	C3N-00560_TP	3829324	23373777	35243839	1164	19103											
ZNF536	0	.	GRCh38	chr19	30444779	30444779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcggtgaagaacaagtcccCcagcgaccccgaggtgcctg	9	5	13	14	3	0	2	0	1	0	1	2	4	1	2	5	2	3	0	5	2	3	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1217C>G	p.Pro406Arg	p.P406R	ENST00000355537	2/5	448	354	94	283	283	0	strelka-varscan-mutect	ZNF536,missense_variant,p.Pro406Arg,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.Pro406Arg,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;	G	ENST00000355537	Transcript	missense_variant	1364/4945	1217/3903	406/1300	P/R	cCc/cGc		1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	tolerated(0.14)		2/5		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	30444779	30444779	C	G	1	0	0	0	0	1	0	0	0	18547	623	22	4		4	ZNF536	19	30444779	Missense_Mutation	SNP	C	C3N-00560_TP	7071002	30444779	28172837	1165	19104											
ZNF536	0	.	GRCh38	chr19	30445194	30445194	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctaaagagcatccgctGcagcgcaaccacgaagacac	13	6	9	13	3	1	2	0	0	1	2	2	3	2	2	2	0	4	4	2	0	4	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1632G>T	p.=	p.L544L	ENST00000355537	2/5	320	245	75	208	208	0	strelka-varscan-mutect	ZNF536,synonymous_variant,p.=,ENST00000355537,NM_014717.1;ZNF536,synonymous_variant,p.=,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;	T	ENST00000355537	Transcript	synonymous_variant	1779/4945	1632/3903	544/1300	L	ctG/ctT		1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1			2/5		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5																	LOW	1	SNV	1			1										PASS		rs1286116407	.												T	2	4	57	30445194	30445194	G	T	1	0	0	0	0	0	0	0	1	18547	1306	46	2		2	ZNF536	19	30445194	Silent	SNP	G	C3N-00560_TP	415	30445194	28172422	1166	19105											
TSHZ3	0	.	GRCh38	chr19	31277127	31277127	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcggcccttcctcttcTgggcgggcgtcgactcctca	3	10	12	16	4	3	0	1	0	2	0	6	1	5	0	3	4	0	0	3	4	0	2	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.2666A>G	p.Gln889Arg	p.Q889R	ENST00000240587	2/2	37	23	14	41	41	0	strelka-varscan-mutect	TSHZ3,missense_variant,p.Gln889Arg,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;	C	ENST00000240587	Transcript	missense_variant	2994/5176	2666/3246	889/1081	Q/R	cAg/cGg		1		-1	TSHZ3	HGNC	HGNC:30700	protein_coding	YES	CCDS12421.2	ENSP00000240587	Q63HK5		UPI0000202000	NM_020856.2	deleterious(0.01)		2/2		Gene3D:1.10.10.60,PROSITE_profiles:PS50071,hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5																	MODERATE	1	SNV	1			1										PASS		rs1245684737	.												C	3	2	57	31277127	31277127	T	C	1	0	0	0	0	1	0	0	0	17130	1580	55	5		5	TSHZ3	19	31277127	Missense_Mutation	SNP	T	C3N-00560_TP	831933	31277127	27340489	1167	19106											
TSHZ3	0	.	GRCh38	chr19	31279504	31279504	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgacctccttggtctcctCttcgttcttgatggagccgc	3	14	10	14	3	3	2	0	2	3	0	6	3	4	3	4	2	1	1	4	2	0	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.289G>T	p.Glu97Ter	p.E97*	ENST00000240587	2/2	63	38	25	68	68	0	strelka-mutect	TSHZ3,stop_gained,p.Glu97Ter,ENST00000240587,NM_020856.2;TSHZ3,non_coding_transcript_exon_variant,,ENST00000560707,;	A	ENST00000240587	Transcript	stop_gained	617/5176	289/3246	97/1081	E/*	Gag/Tag		1		-1	TSHZ3	HGNC	HGNC:30700	protein_coding	YES	CCDS12421.2	ENSP00000240587	Q63HK5		UPI0000202000	NM_020856.2			2/2		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	31279504	31279504	C	A	1	0	0	0	0	0	1	0	0	17130	922	32	2		2	TSHZ3	19	31279504	Nonsense_Mutation	SNP	C	C3N-00560_TP	2377	31279504	27338112	1168	19107											
PEPD	0	.	GRCh38	chr19	33401846	33401846	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcggaagcgaagcagtaaTactcaccgcccatgtcgaac	12	7	10	12	4	1	0	1	0	0	0	3	3	1	1	2	1	4	2	2	1	5	2	rs766027294		C3N-00560_TP	C3N-00560_NB	T	T																c.842A>T	p.Tyr281Phe	p.Y281F	ENST00000244137	12/15	1185	793	392	524	523	1	strelka-varscan-mutect	PEPD,missense_variant,p.Tyr281Phe,ENST00000244137,NM_000285.3;PEPD,missense_variant,p.Tyr240Phe,ENST00000397032,NM_001166056.1;PEPD,missense_variant,p.Tyr217Phe,ENST00000436370,NM_001166057.1;PEPD,missense_variant,p.Tyr112Phe,ENST00000588328,;PEPD,missense_variant,p.Tyr92Phe,ENST00000609145,;PEPD,non_coding_transcript_exon_variant,,ENST00000590731,;PEPD,non_coding_transcript_exon_variant,,ENST00000588719,;PEPD,non_coding_transcript_exon_variant,,ENST00000593163,;	A	ENST00000244137	Transcript	missense_variant	876/1910	842/1482	281/493	Y/F	tAt/tTt	rs766027294	1		-1	PEPD	HGNC	HGNC:8840	protein_coding	YES	CCDS42544.1	ENSP00000244137	P12955	A0A140VJR2	UPI000006F8BF	NM_000285.3	deleterious(0.02)		12/15		hmmpanther:PTHR10804,hmmpanther:PTHR10804:SF100,Pfam_domain:PF00557,Gene3D:3.90.230.10,Superfamily_domains:SSF55920																	MODERATE	1	SNV	1			1										PASS		rs766027294	.												A	3	1	57	33401846	33401846	T	A	1	0	0	0	0	1	0	0	0	11816	1406	49	4		4	PEPD	19	33401846	Missense_Mutation	SNP	T	C3N-00560_TP	2122342	33401846	25215770	1169	19108											
FAM187B	0	.	GRCh38	chr19	35228536	35228536	+	Frame_Shift_Del	DEL	C	C	-																															gaataaatagtaccagtgcgCccccgaggagttgcaataca																										C3N-00560_TP	C3N-00560_NB	C	C																c.145delG	p.Ala49ArgfsTer26	p.A49Rfs*26	ENST00000324675	1/2	285	212	73	249	249	0	sindel-varindel-pindel	FAM187B,frameshift_variant,p.Ala49ArgfsTer26,ENST00000324675,NM_152481.1;FAM187B2P,downstream_gene_variant,,ENST00000577135,;	-	ENST00000324675	Transcript	frameshift_variant	194/1184	145/1110	49/369	A/X	Gcg/cg	COSM5389403	1		-1	FAM187B	HGNC	HGNC:26366	protein_coding	YES	CCDS12448.1	ENSP00000323355	Q17R55		UPI0000049306	NM_152481.1			1/2		hmmpanther:PTHR32178,hmmpanther:PTHR32178:SF8,Gene3D:2.60.40.10,Superfamily_domains:SSF48726											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	57	35228536	35228536	C	-	1	0	1	0	1	0	0	0	0	5364	739	26	0		0	FAM187B	19	35228536	Frame_Shift_Del	DEL	C	C3N-00560_TP	1826690	35228536	23389080	1170	19109											
PROSER3	0	.	GRCh38	chr19	35759788	35759788	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgctcttccctgatcttaGaccctgagcccatccaggtc	6	12	8	15	0	2	3	0	2	2	1	5	3	4	3	4	1	2	1	4	1	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.109-1G>A		p.X37_splice	ENST00000396908		215	156	59	147	147	0	strelka-varscan-mutect	PROSER3,splice_acceptor_variant,,ENST00000396908,NM_001039887.2;PROSER3,splice_acceptor_variant,,ENST00000536950,;PROSER3,splice_acceptor_variant,,ENST00000301165,;PROSER3,splice_acceptor_variant,,ENST00000537459,;PROSER3,splice_acceptor_variant,,ENST00000545674,;PROSER3,splice_acceptor_variant,,ENST00000444637,;PROSER3,intron_variant,,ENST00000421853,;HSPB6,upstream_gene_variant,,ENST00000592984,;HSPB6,upstream_gene_variant,,ENST00000004982,NM_144617.2;HSPB6,upstream_gene_variant,,ENST00000587965,;PROSER3,upstream_gene_variant,,ENST00000542134,;AC002398.12,downstream_gene_variant,,ENST00000587767,;PROSER3,intron_variant,,ENST00000544876,;PROSER3,splice_acceptor_variant,,ENST00000620918,;PROSER3,splice_acceptor_variant,,ENST00000601095,;PROSER3,non_coding_transcript_exon_variant,,ENST00000600988,;PROSER3,intron_variant,,ENST00000539771,;	A	ENST00000396908	Transcript	splice_acceptor_variant	-/2149	109/1443	37/480				1		1	PROSER3	HGNC	HGNC:25204	protein_coding	YES		ENSP00000380116	Q2NL68		UPI000067CA4C	NM_001039887.2				2/10																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	57	35759788	35759788	G	A	1	0	0	0	0	0	0	1	0	12695	956	33	3		3	PROSER3	19	35759788	Splice_Site	SNP	G	C3N-00560_TP	531252	35759788	22857828	1171	19110											
PROSER3	0	.	GRCh38	chr19	35766922	35766922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcaagggtgacagagcttgGgtgccgcctctgacccctgc	7	7	14	13	1	1	3	0	2	1	1	1	3	1	3	4	2	4	2	4	2	1	1			C3N-00560_TP	C3N-00560_NB	G	G																c.924G>T	p.Trp308Cys	p.W308C	ENST00000396908	8/11	136	89	47	93	93	0	strelka-varscan-mutect	PROSER3,missense_variant,p.Trp308Cys,ENST00000396908,NM_001039887.2;PROSER3,downstream_gene_variant,,ENST00000536950,;PROSER3,downstream_gene_variant,,ENST00000301165,;PROSER3,downstream_gene_variant,,ENST00000537459,;PROSER3,downstream_gene_variant,,ENST00000421853,;PROSER3,downstream_gene_variant,,ENST00000545674,;PROSER3,downstream_gene_variant,,ENST00000444637,;PROSER3,downstream_gene_variant,,ENST00000542134,;AC002398.13,downstream_gene_variant,,ENST00000589397,;PROSER3,non_coding_transcript_exon_variant,,ENST00000542591,;PROSER3,intron_variant,,ENST00000544876,;PROSER3,upstream_gene_variant,,ENST00000536037,;PROSER3,missense_variant,p.Trp296Cys,ENST00000620918,;PROSER3,downstream_gene_variant,,ENST00000600988,;PROSER3,upstream_gene_variant,,ENST00000544158,;PROSER3,downstream_gene_variant,,ENST00000601095,;PROSER3,downstream_gene_variant,,ENST00000539771,;	T	ENST00000396908	Transcript	missense_variant	987/2149	924/1443	308/480	W/C	tgG/tgT	COSM239034	1		1	PROSER3	HGNC	HGNC:25204	protein_coding	YES		ENSP00000380116	Q2NL68		UPI000067CA4C	NM_001039887.2	deleterious(0.02)		8/11		hmmpanther:PTHR22045,hmmpanther:PTHR22045:SF6											1						MODERATE	1	SNV	1		1	1										PASS		rs907280072	.												T	3	4	57	35766922	35766922	G	T	1	0	0	0	0	1	0	0	0	12695	1241	43	2		2	PROSER3	19	35766922	Missense_Mutation	SNP	G	C3N-00560_TP	7134	35766922	22850694	1172	19111											
ZNF793	0	.	GRCh38	chr19	37537512	37537512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggtaagaccctttgaatGttttttttgtgggaaagcct	8	16	12	5	0	0	2	0	1	0	1	0	3	0	3	2	3	1	2	2	3	3	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.854G>T	p.Cys285Phe	p.C285F	ENST00000445217	4/4	218	188	30	159	158	1	strelka-varscan-mutect	ZNF793,missense_variant,p.Cys285Phe,ENST00000445217,NM_001013659.2;ZNF793,missense_variant,p.Cys191Phe,ENST00000542455,;ZNF793,missense_variant,p.Cys285Phe,ENST00000627814,;ZNF793,missense_variant,p.Cys285Phe,ENST00000587143,;ZNF793,3_prime_UTR_variant,,ENST00000588578,;ZNF793,intron_variant,,ENST00000589319,;ZNF793,downstream_gene_variant,,ENST00000587986,;ZNF793,downstream_gene_variant,,ENST00000586138,;ZNF793,downstream_gene_variant,,ENST00000587490,;ZNF793,intron_variant,,ENST00000586187,;	T	ENST00000445217	Transcript	missense_variant	889/6712	854/1221	285/406	C/F	tGt/tTt		1		1	ZNF793	HGNC	HGNC:33115	protein_coding	YES	CCDS46062.1	ENSP00000396402	Q6ZN11		UPI0001536771	NM_001013659.2	deleterious(0)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF42,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		rs766943226	.												T	3	4	57	37537512	37537512	G	T	1	0	0	0	0	1	0	0	0	18750	1391	48	2		2	ZNF793	19	37537512	Missense_Mutation	SNP	G	C3N-00560_TP	1770590	37537512	21080104	1173	19112											
WDR87	0	.	GRCh38	chr19	37887669	37887669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatttccaggttcaatGccttttcttccttagcaata	8	19	4	10	0	3	0	2	0	1	0	5	0	5	0	3	1	2	2	3	1	4	9	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.6002C>T	p.Ala2001Val	p.A2001V	ENST00000447313	6/6	209	72	137	152	151	1	strelka-varscan-mutect	WDR87,missense_variant,p.Ala2001Val,ENST00000447313,NM_001291088.1;WDR87,missense_variant,p.Ala1962Val,ENST00000303868,NM_031951.4;	A	ENST00000447313	Transcript	missense_variant	6163/9009	6002/8739	2001/2912	A/V	gCa/gTa		1		-1	WDR87	HGNC	HGNC:29934	protein_coding	YES	CCDS74356.1	ENSP00000405012		E7ESW6	UPI0003EAEFEF	NM_001291088.1	deleterious(0.01)		6/6		PD936484																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	37887669	37887669	G	A	1	0	0	0	0	1	0	0	0	17890	1319	46	3		3	WDR87	19	37887669	Missense_Mutation	SNP	G	C3N-00560_TP	350157	37887669	20729947	1174	19113											
WDR87	0	.	GRCh38	chr19	37893693	37893693	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aattttaaacaggacactagGtaaagactctggttaaaagt	17	11	8	5	0	1	1	0	0	1	1	1	2	1	2	0	3	1	2	0	3	8	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2010C>A	p.Tyr670Ter	p.Y670*	ENST00000447313	4/6	254	71	183	162	162	0	strelka-varscan-mutect	WDR87,stop_gained,p.Tyr670Ter,ENST00000447313,NM_001291088.1;WDR87,stop_gained,p.Tyr631Ter,ENST00000303868,NM_031951.4;WDR87,downstream_gene_variant,,ENST00000473328,;	T	ENST00000447313	Transcript	stop_gained	2171/9009	2010/8739	670/2912	Y/*	taC/taA		1		-1	WDR87	HGNC	HGNC:29934	protein_coding	YES	CCDS74356.1	ENSP00000405012		E7ESW6	UPI0003EAEFEF	NM_001291088.1			4/6		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF465																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	57	37893693	37893693	G	T	1	0	0	0	0	0	1	0	0	17890	1256	44	2		2	WDR87	19	37893693	Nonsense_Mutation	SNP	G	C3N-00560_TP	6024	37893693	20723923	1175	19114											
SIPA1L3	0	.	GRCh38	chr19	38082627	38082627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgttcgacctcaacgaGgcggccgccaacagggtgtc	8	7	13	13	4	1	0	1	0	0	0	3	2	1	0	3	3	3	2	3	3	2	1	rs146812141		C3N-00560_TP	C3N-00560_NB	G	G																c.1062G>T	p.Glu354Asp	p.E354D	ENST00000222345	3/22	301	95	206	223	223	0	strelka-varscan-mutect	SIPA1L3,missense_variant,p.Glu354Asp,ENST00000222345,NM_015073.2;SIPA1L3,downstream_gene_variant,,ENST00000476317,;	T	ENST00000222345	Transcript	missense_variant	1571/7987	1062/5346	354/1781	E/D	gaG/gaT	rs146812141	1		1	SIPA1L3	HGNC	HGNC:23801	protein_coding	YES	CCDS33007.1	ENSP00000222345	O60292		UPI00001D8160	NM_015073.2	deleterious(0.03)		3/22		hmmpanther:PTHR15711:SF15,hmmpanther:PTHR15711																	MODERATE	1	SNV	1			1										PASS		rs146812141	.												T	3	4	57	38082627	38082627	G	T	1	0	0	0	0	1	0	0	0	14594	991	35	2		2	SIPA1L3	19	38082627	Missense_Mutation	SNP	G	C3N-00560_TP	188934	38082627	20534989	1176	19115											
RYR1	0	.	GRCh38	chr19	38469118	38469118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaggctccgaaacagccttCcgggagattgagattgggga	10	8	14	9	2	1	2	1	1	0	2	3	6	3	3	3	4	2	1	3	4	1	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3534C>A	p.Phe1178Leu	p.F1178L	ENST00000359596	26/106	718	230	488	476	476	0	strelka-varscan-mutect	RYR1,missense_variant,p.Phe1178Leu,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Phe1178Leu,ENST00000359596,NM_000540.2;RYR1,downstream_gene_variant,,ENST00000594111,;	A	ENST00000359596	Transcript	missense_variant	3534/15117	3534/15117	1178/5038	F/L	ttC/ttA		1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2	deleterious(0.01)		26/106		PROSITE_profiles:PS50188,hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	38469118	38469118	C	A	1	0	0	0	0	1	0	0	0	14028	854	30	2		2	RYR1	19	38469118	Missense_Mutation	SNP	C	C3N-00560_TP	386491	38469118	20148498	1177	19116											
ACP7	0	.	GRCh38	chr19	39085324	39085324	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctactcctgctattctccTtgggagtccaggggtccctg	4	13	11	13	0	2	0	0	0	2	0	6	1	5	1	4	3	2	1	4	3	2	4	rs780329718		C3N-00560_TP	C3N-00560_NB	T	T																c.55T>A	p.Leu19Met	p.L19M	ENST00000331256	2/13	129	52	77	111	111	0	strelka-varscan-mutect	ACP7,missense_variant,p.Leu19Met,ENST00000331256,NM_001004318.2;ACP7,missense_variant,p.Leu19Met,ENST00000594229,;ACP7,missense_variant,p.Leu19Met,ENST00000601575,;	A	ENST00000331256	Transcript	missense_variant	329/2966	55/1317	19/438	L/M	Ttg/Atg	rs780329718	1		1	ACP7	HGNC	HGNC:33781	protein_coding	YES	CCDS33018.1	ENSP00000327557	Q6ZNF0		UPI000041AA68	NM_001004318.2	deleterious(0.03)		2/13		hmmpanther:PTHR22953,hmmpanther:PTHR22953:SF9,Cleavage_site_(Signalp):SignalP-noTM,Superfamily_domains:SSF49363																	MODERATE	1	SNV	2			1										PASS		rs780329718	.												A	3	1	57	39085324	39085324	T	A	1	0	0	0	0	1	0	0	0	208	1606	56	4		4	ACP7	19	39085324	Missense_Mutation	SNP	T	C3N-00560_TP	616206	39085324	19532292	1178	19117											
AXL	0	.	GRCh38	chr19	41220803	41220803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggacagcacccagaccCaggtgcccctgggtgaggat	8	5	14	14	2	0	2	0	1	0	1	1	4	0	4	4	4	2	1	4	4	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.253C>A	p.Gln85Lys	p.Q85K	ENST00000301178	2/20	350	257	93	329	329	0	strelka-varscan-mutect	AXL,missense_variant,p.Gln85Lys,ENST00000301178,NM_021913.4;AXL,missense_variant,p.Gln85Lys,ENST00000359092,NM_001699.5;CTD-2195B23.3,downstream_gene_variant,,ENST00000598541,;AXL,non_coding_transcript_exon_variant,,ENST00000594880,;AXL,non_coding_transcript_exon_variant,,ENST00000599659,;	A	ENST00000301178	Transcript	missense_variant	443/4737	253/2685	85/894	Q/K	Cag/Aag		1		1	AXL	HGNC	HGNC:905	protein_coding	YES	CCDS12575.1	ENSP00000301178	P30530		UPI000014319B	NM_021913.4	deleterious(0.02)		2/20		PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF323,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	41220803	41220803	C	A	1	0	0	0	0	1	0	0	0	1395	595	21	2		2	AXL	19	41220803	Missense_Mutation	SNP	C	C3N-00560_TP	2135479	41220803	17396813	1179	19118											
HNRNPUL1	0	.	GRCh38	chr19	41279094	41279094	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcaatgaggaaatctcCgtgaagcaccttccgtctac	12	9	8	12	2	3	3	1	2	2	1	5	4	4	4	3	1	2	1	3	1	4	2	rs758565657		C3N-00560_TP	C3N-00560_NB	C	C																c.804C>T	p.=	p.S268S	ENST00000392006	6/15	225	82	143	184	184	0	strelka-varscan-mutect	HNRNPUL1,synonymous_variant,p.=,ENST00000392006,NM_007040.4;HNRNPUL1,synonymous_variant,p.=,ENST00000352456,;HNRNPUL1,synonymous_variant,p.=,ENST00000263367,;HNRNPUL1,synonymous_variant,p.=,ENST00000602130,;HNRNPUL1,synonymous_variant,p.=,ENST00000595018,NM_144732.3;HNRNPUL1,synonymous_variant,p.=,ENST00000593587,;HNRNPUL1,synonymous_variant,p.=,ENST00000599614,;HNRNPUL1,synonymous_variant,p.=,ENST00000599719,;HNRNPUL1,synonymous_variant,p.=,ENST00000597725,;HNRNPUL1,intron_variant,,ENST00000378215,;HNRNPUL1,intron_variant,,ENST00000617305,;HNRNPUL1,intron_variant,,ENST00000617774,;HNRNPUL1,downstream_gene_variant,,ENST00000601336,;HNRNPUL1,downstream_gene_variant,,ENST00000601309,;HNRNPUL1,non_coding_transcript_exon_variant,,ENST00000594207,;HNRNPUL1,synonymous_variant,p.=,ENST00000600596,;HNRNPUL1,3_prime_UTR_variant,,ENST00000595196,;HNRNPUL1,downstream_gene_variant,,ENST00000600332,;	T	ENST00000392006	Transcript	synonymous_variant	977/3555	804/2571	268/856	S	tcC/tcT	rs758565657	1		1	HNRNPUL1	HGNC	HGNC:17011	protein_coding	YES	CCDS12576.1	ENSP00000375863	Q9BUJ2		UPI000013D3F4	NM_007040.4			6/15		PROSITE_profiles:PS50188,hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF41,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		rs758565657	.												T	2	4	57	41279094	41279094	C	T	1	0	0	0	0	0	0	0	1	7169	639	23	1		1	HNRNPUL1	19	41279094	Silent	SNP	C	C3N-00560_TP	58291	41279094	17338522	1180	19119											
GRIK5	0	.	GRCh38	chr19	42006661	42006661	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacctggaagaaggtcatgGtggagccggcgtggatggtg	8	7	18	8	2	1	1	1	0	0	1	1	4	1	4	3	7	1	0	3	7	2	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2021C>A	p.Thr674Asn	p.T674N	ENST00000301218	15/19	224	78	146	189	189	0	strelka-varscan-mutect	GRIK5,missense_variant,p.Thr674Asn,ENST00000262895,NM_002088.4;GRIK5,missense_variant,p.Thr674Asn,ENST00000301218,NM_001301030.1;GRIK5,missense_variant,p.Thr674Asn,ENST00000593562,;GRIK5,non_coding_transcript_exon_variant,,ENST00000454993,;GRIK5,upstream_gene_variant,,ENST00000602210,;	T	ENST00000301218	Transcript	missense_variant	2056/3310	2021/2946	674/981	T/N	aCc/aAc		1		-1	GRIK5	HGNC	HGNC:4583	protein_coding	YES	CCDS77305.1	ENSP00000301218	Q16478		UPI000006E81F	NM_001301030.1	deleterious(0)		15/19		Gene3D:1.10.287.70,Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF34,SMART_domains:SM00079,Superfamily_domains:SSF53850																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	42006661	42006661	G	T	1	0	0	0	0	1	0	0	0	6659	1261	44	2		2	GRIK5	19	42006661	Missense_Mutation	SNP	G	C3N-00560_TP	727567	42006661	16610955	1181	19120											
PSG9	0	.	GRCh38	chr19	43258873	43258873	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaggacatttaggatGactgggttactgcggaggcc	10	9	14	8	1	1	2	1	1	0	1	1	5	1	5	1	5	2	1	1	5	2	3	rs745937029		C3N-00560_TP	C3N-00560_NB	G	G																c.972C>A	p.=	p.V324V	ENST00000270077	4/6	292	215	77	136	136	0	varscan-mutect	PSG9,synonymous_variant,p.=,ENST00000621109,;PSG9,synonymous_variant,p.=,ENST00000418820,;PSG9,synonymous_variant,p.=,ENST00000270077,NM_002784.4;PSG9,synonymous_variant,p.=,ENST00000443718,NM_001301707.1;PSG9,intron_variant,,ENST00000244293,;PSG9,intron_variant,,ENST00000596730,;PSG9,intron_variant,,ENST00000593948,NM_001301708.1;PSG9,intron_variant,,ENST00000291752,NM_001301709.1;PSG9,non_coding_transcript_exon_variant,,ENST00000595404,;	T	ENST00000270077	Transcript	synonymous_variant	1069/1705	972/1281	324/426	V	gtC/gtA	rs745937029	1		-1	PSG9	HGNC	HGNC:9526	protein_coding	YES	CCDS12618.1	ENSP00000270077	Q00887		UPI00001327A5	NM_002784.4			4/6		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs745937029	.												T	2	4	57	43258873	43258873	G	T	1	0	0	0	0	0	0	0	1	12813	1277	45	2		2	PSG9	19	43258873	Silent	SNP	G	C3N-00560_TP	1252212	43258873	15358743	1182	19121											
ZNF221	0	.	GRCh38	chr19	43967082	43967082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcattcccatcagacatGccatactggagaaaagctat	14	10	6	11	0	2	2	2	0	0	2	3	3	3	2	2	1	3	1	2	1	4	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1580G>T	p.Cys527Phe	p.C527F	ENST00000251269	6/6	307	193	114	246	246	0	strelka-varscan-mutect	ZNF221,missense_variant,p.Cys527Phe,ENST00000251269,NM_013359.2;ZNF221,missense_variant,p.Cys527Phe,ENST00000592350,;ZNF221,missense_variant,p.Cys527Phe,ENST00000622072,;ZNF221,missense_variant,p.Cys527Phe,ENST00000587682,NM_001297589.1,NM_001297588.1;ZNF221,downstream_gene_variant,,ENST00000591168,;ZNF155,upstream_gene_variant,,ENST00000590411,;	T	ENST00000251269	Transcript	missense_variant	1908/2535	1580/1854	527/617	C/F	tGc/tTc		1		1	ZNF221	HGNC	HGNC:13014	protein_coding	YES	CCDS12633.1	ENSP00000251269		A0A087WT08	UPI00015CFC02	NM_013359.2	deleterious(0)		6/6		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF3,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	43967082	43967082	G	T	1	0	0	0	0	1	0	0	0	18352	1319	46	2		2	ZNF221	19	43967082	Missense_Mutation	SNP	G	C3N-00560_TP	708209	43967082	14650534	1183	19122											
ZNF230	0	.	GRCh38	chr19	44011204	44011204	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagagggtccatactggaGagagaccttataattgtaag	14	9	11	7	0	0	3	0	0	0	3	1	5	1	3	3	2	1	1	3	2	4	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1165G>T	p.Glu389Ter	p.E389*	ENST00000429154	5/5	486	366	120	312	311	1	strelka-varscan-mutect	ZNF230,stop_gained,p.Glu389Ter,ENST00000429154,NM_006300.3;ZNF230,downstream_gene_variant,,ENST00000585491,;ZNF230,downstream_gene_variant,,ENST00000585632,;ZNF230,3_prime_UTR_variant,,ENST00000585568,;	T	ENST00000429154	Transcript	stop_gained	1393/4115	1165/1425	389/474	E/*	Gag/Tag		1		1	ZNF230	HGNC	HGNC:13024	protein_coding	YES	CCDS33044.1	ENSP00000409318	Q9UIE0		UPI000016960C	NM_006300.3			5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF176,hmmpanther:PTHR24402,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	44011204	44011204	G	T	1	0	0	0	0	0	1	0	0	18361	943	33	2		2	ZNF230	19	44011204	Nonsense_Mutation	SNP	G	C3N-00560_TP	44122	44011204	14606412	1184	19123											
ZNF233	0	.	GRCh38	chr19	44274277	44274277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaagccatacaaatgtgaGacatgtgggaagggctttag	14	8	14	5	0	0	2	0	1	0	2	0	5	0	3	1	2	2	1	1	2	5	3	rs752266706		C3N-00560_TP	C3N-00560_NB	G	G																c.1617G>C	p.Glu539Asp	p.E539D	ENST00000391958	5/5	303	232	71	172	172	0	strelka-varscan-mutect	ZNF233,missense_variant,p.Glu539Asp,ENST00000391958,NM_001207005.1,NM_181756.2;ZNF233,3_prime_UTR_variant,,ENST00000592581,;ZNF235,intron_variant,,ENST00000589799,;ZNF233,downstream_gene_variant,,ENST00000590668,;ZNF235,downstream_gene_variant,,ENST00000589248,;ZNF235,intron_variant,,ENST00000592844,;	C	ENST00000391958	Transcript	missense_variant	1744/2784	1617/2013	539/670	E/D	gaG/gaC	rs752266706	1		1	ZNF233	HGNC	HGNC:30946	protein_coding	YES	CCDS33047.1	ENSP00000375820	A6NK53		UPI000049DEBE	NM_001207005.1,NM_181756.2	tolerated(0.32)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		rs752266706	.												C	3	2	57	44274277	44274277	G	C	1	0	0	0	0	1	0	0	0	18363	933	33	4		4	ZNF233	19	44274277	Missense_Mutation	SNP	G	C3N-00560_TP	263073	44274277	14343339	1185	19124											
ZNF229	0	.	GRCh38	chr19	44428544	44428544	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctctgactatagcccttcCcacacacgtggcatctgtat	9	11	7	14	1	2	1	0	1	2	0	3	1	3	1	2	1	2	3	2	1	3	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.2237G>T	p.Gly746Val	p.G746V	ENST00000614049	6/6	389	305	84	200	200	0	strelka-varscan-mutect	ZNF229,missense_variant,p.Gly740Val,ENST00000613197,NM_001278510.2;ZNF229,missense_variant,p.Gly746Val,ENST00000614049,NM_014518.3;ZNF229,downstream_gene_variant,,ENST00000592308,;CTC-512J12.4,intron_variant,,ENST00000588655,;ZNF229,intron_variant,,ENST00000591289,;ZNF229,3_prime_UTR_variant,,ENST00000620012,;	A	ENST00000614049	Transcript	missense_variant	2671/4507	2237/2478	746/825	G/V	gGg/gTg		1		-1	ZNF229	HGNC	HGNC:13022	protein_coding	YES	CCDS42574.1	ENSP00000479884	Q9UJW7		UPI0001747B51	NM_014518.3	deleterious(0)		6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF348,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	44428544	44428544	C	A	1	0	0	0	0	1	0	0	0	18359	623	22	2		2	ZNF229	19	44428544	Missense_Mutation	SNP	C	C3N-00560_TP	154267	44428544	14189072	1186	19125											
APOC4	0	.	GRCh38	chr19	44945299	44945299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtggggacaaggaccaGggttaaaatgttcataaaag	14	9	13	5	0	2	0	1	0	1	0	2	2	2	2	1	4	0	2	1	4	5	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.378G>A	p.=	p.Q126Q	ENST00000592954	3/3	142	38	104	80	80	0	strelka-varscan-mutect	APOC4,synonymous_variant,p.=,ENST00000592954,NM_001646.2;APOC4-APOC2,intron_variant,,ENST00000589057,;APOC2,upstream_gene_variant,,ENST00000585786,;APOC2,upstream_gene_variant,,ENST00000590360,;APOC4-APOC2,upstream_gene_variant,,ENST00000252490,NM_000483.4;APOC2,upstream_gene_variant,,ENST00000591597,;APOC2,upstream_gene_variant,,ENST00000592257,;APOC4,downstream_gene_variant,,ENST00000591600,;CTB-129P6.11,downstream_gene_variant,,ENST00000591646,;APOC4-APOC2,synonymous_variant,p.=,ENST00000585685,;	A	ENST00000592954	Transcript	synonymous_variant	418/615	378/384	126/127	Q	caG/caA		1		1	APOC4	HGNC	HGNC:611	protein_coding	YES	CCDS12649.1	ENSP00000468236	P55056		UPI0000125C2A	NM_001646.2			3/3		PD020932,hmmpanther:PTHR32288																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	44945299	44945299	G	A	1	0	0	0	0	0	0	0	1	922	991	35	3		3	APOC4	19	44945299	Silent	SNP	G	C3N-00560_TP	516755	44945299	13672317	1187	19126											
CLPTM1	0	.	GRCh38	chr19	44990477	44990477	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgttttccagtcattcgtGgtcctcctctacatcctgga	5	14	9	13	2	2	0	1	0	1	0	7	1	6	1	4	3	1	1	4	3	1	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1215G>T	p.=	p.V405V	ENST00000337392	10/14	238	84	154	185	184	1	strelka-varscan-mutect	CLPTM1,synonymous_variant,p.=,ENST00000541297,NM_001282175.1;CLPTM1,synonymous_variant,p.=,ENST00000337392,NM_001294.3;CLPTM1,synonymous_variant,p.=,ENST00000546079,NM_001282176.1;CLPTM1,upstream_gene_variant,,ENST00000586915,;CLPTM1,downstream_gene_variant,,ENST00000589158,;CLPTM1,synonymous_variant,p.=,ENST00000589347,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000588274,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000586975,;CLPTM1,downstream_gene_variant,,ENST00000588855,;CLPTM1,downstream_gene_variant,,ENST00000587537,;	T	ENST00000337392	Transcript	synonymous_variant	1365/2604	1215/2010	405/669	V	gtG/gtT		1		1	CLPTM1	HGNC	HGNC:2087	protein_coding	YES	CCDS12651.1	ENSP00000336994	O96005	A0A0S2Z3H2	UPI0000072CBA	NM_001294.3			10/14		Pfam_domain:PF05602,hmmpanther:PTHR21347,hmmpanther:PTHR21347:SF0,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	44990477	44990477	G	T	1	0	0	0	0	0	0	0	1	3326	1335	47	2		2	CLPTM1	19	44990477	Silent	SNP	G	C3N-00560_TP	45178	44990477	13627139	1188	19127											
PPP1R13L	0	.	GRCh38	chr19	45396220	45396220	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctccaaggcaacagcTgcaggctcggcgaggcaggc	8	5	13	15	2	1	0	0	0	1	0	4	1	2	0	2	5	3	5	2	5	2	0	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.851A>T	p.Gln284Leu	p.Q284L	ENST00000418234	6/13	169	109	60	265	265	0	strelka-varscan-mutect	PPP1R13L,missense_variant,p.Gln284Leu,ENST00000418234,NM_001142502.1;PPP1R13L,missense_variant,p.Gln284Leu,ENST00000360957,NM_006663.3;PPP1R13L,downstream_gene_variant,,ENST00000593226,;PPP1R13L,downstream_gene_variant,,ENST00000592134,;PPP1R13L,non_coding_transcript_exon_variant,,ENST00000585905,;PPP1R13L,upstream_gene_variant,,ENST00000587270,;	A	ENST00000418234	Transcript	missense_variant	930/3118	851/2487	284/828	Q/L	cAg/cTg		1		-1	PPP1R13L	HGNC	HGNC:18838	protein_coding	YES	CCDS33050.1	ENSP00000403902	Q8WUF5	A0A024R0Q5	UPI00001400F1	NM_001142502.1	tolerated(0.1)		6/13		hmmpanther:PTHR24164,hmmpanther:PTHR24164:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	45396220	45396220	T	A	1	0	0	0	0	1	0	0	0	12468	1580	55	4		4	PPP1R13L	19	45396220	Missense_Mutation	SNP	T	C3N-00560_TP	405743	45396220	13221396	1189	19128											
BHMG1	0	.	GRCh38	chr19	45754629	45754629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcggtcacccgaggcCtgcatcatcctcacctccag	6	8	8	19	2	3	0	3	0	0	0	6	1	6	0	6	2	2	1	6	2	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.707C>A	p.Pro236His	p.P236H	ENST00000457052	7/15	276	176	100	314	314	0	strelka-varscan-mutect	BHMG1,missense_variant,p.Pro236His,ENST00000457052,NM_001310124.1;	A	ENST00000457052	Transcript	missense_variant	1123/2749	707/1917	236/638	P/H	cCt/cAt		1		1	BHMG1	HGNC	HGNC:44318	protein_coding	YES		ENSP00000402674	C9JSJ3		UPI0002840CC6	NM_001310124.1	deleterious_low_confidence(0.01)		7/15																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	45754629	45754629	C	A	1	0	0	0	0	1	0	0	0	1573	681	24	2		2	BHMG1	19	45754629	Missense_Mutation	SNP	C	C3N-00560_TP	358409	45754629	12862987	1190	19129											
CCDC9	0	.	GRCh38	chr19	47260742	47260742	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccccggggagcagcctcgagGaggaggagctgggggccgtg	6	3	21	11	3	0	0	0	0	0	0	1	5	0	4	4	7	3	2	4	7	0	0			C3N-00560_TP	C3N-00560_NB	G	G																c.365G>C	p.Gly122Ala	p.G122A	ENST00000221922	5/12	69	30	39	91	91	0	strelka-varscan-mutect	CCDC9,missense_variant,p.Gly122Ala,ENST00000221922,NM_015603.2;CCDC9,missense_variant,p.Gly122Ala,ENST00000599398,;CCDC9,downstream_gene_variant,,ENST00000596938,;CCDC9,downstream_gene_variant,,ENST00000595659,;CCDC9,downstream_gene_variant,,ENST00000601154,;	C	ENST00000221922	Transcript	missense_variant	587/2093	365/1596	122/531	G/A	gGa/gCa	COSM4544876	1		1	CCDC9	HGNC	HGNC:24560	protein_coding	YES	CCDS12698.1	ENSP00000221922	Q9Y3X0		UPI0000073E41	NM_015603.2	tolerated(0.26)		5/12		Low_complexity_(Seg):seg,hmmpanther:PTHR15635,hmmpanther:PTHR15635:SF11											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	57	47260742	47260742	G	C	1	0	0	0	0	1	0	0	0	2566	1174	41	4		4	CCDC9	19	47260742	Missense_Mutation	SNP	G	C3N-00560_TP	1506113	47260742	11356874	1191	19130											
KPTN	0	.	GRCh38	chr19	47484035	47484035	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctttaagggtggcggcCagcagctccccgcgcccgcc	4	7	13	17	4	0	0	0	0	0	0	1	0	1	0	6	3	3	2	6	3	1	3	rs760344382		C3N-00560_TP	C3N-00560_NB	C	C																c.126G>T	p.=	p.L42L	ENST00000338134	1/12	210	121	89	286	285	1	strelka-varscan-mutect	KPTN,synonymous_variant,p.=,ENST00000338134,NM_007059.3,NM_001291296.1;KPTN,synonymous_variant,p.=,ENST00000595554,;KPTN,intron_variant,,ENST00000600271,;NAPA,downstream_gene_variant,,ENST00000263354,NM_003827.3;NAPA,downstream_gene_variant,,ENST00000595227,;NAPA-AS1,upstream_gene_variant,,ENST00000593284,;NAPA-AS1,upstream_gene_variant,,ENST00000594367,;KPTN,non_coding_transcript_exon_variant,,ENST00000595484,;KPTN,non_coding_transcript_exon_variant,,ENST00000602193,;RP11-43N16.4,downstream_gene_variant,,ENST00000624088,;KPTN,upstream_gene_variant,,ENST00000598699,;KPTN,synonymous_variant,p.=,ENST00000594208,;NAPA,downstream_gene_variant,,ENST00000597778,;NAPA,downstream_gene_variant,,ENST00000597271,;NAPA,downstream_gene_variant,,ENST00000594001,;KPTN,upstream_gene_variant,,ENST00000594139,;NAPA,downstream_gene_variant,,ENST00000594217,;	A	ENST00000338134	Transcript	synonymous_variant	234/1691	126/1311	42/436	L	ctG/ctT	rs760344382	1		-1	KPTN	HGNC	HGNC:6404	protein_coding	YES	CCDS42583.1	ENSP00000337850	Q9Y664		UPI000007002E	NM_007059.3,NM_001291296.1			1/12		Low_complexity_(Seg):seg,hmmpanther:PTHR15435,hmmpanther:PTHR15435:SF2																	LOW	1	SNV	1			1										PASS		rs760344382	.												A	2	1	57	47484035	47484035	C	A	1	0	0	0	0	0	0	0	1	8317	581	21	2		2	KPTN	19	47484035	Silent	SNP	C	C3N-00560_TP	223293	47484035	11133581	1192	19131											
KLK7	0	.	GRCh38	chr19	50977620	50977620	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtcattgggttggccGcaagggaaagttccccagga	8	8	15	10	1	1	0	1	0	0	0	2	2	2	2	4	5	0	3	4	5	2	3	rs17855561		C3N-00560_TP	C3N-00560_NB	G	G																c.678C>G	p.Cys226Trp	p.C226W	ENST00000391807	6/6	140	83	57	193	193	0	strelka-varscan-mutect	KLK7,missense_variant,p.Cys226Trp,ENST00000391807,NM_139277.2;KLK7,missense_variant,p.Cys226Trp,ENST00000595820,NM_005046.3;KLK7,missense_variant,p.Cys154Trp,ENST00000597707,NM_001207053.1;KLK7,downstream_gene_variant,,ENST00000593904,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK7,downstream_gene_variant,,ENST00000595638,;KLK7,3_prime_UTR_variant,,ENST00000304045,NM_001243126.1;	C	ENST00000391807	Transcript	missense_variant	780/1912	678/762	226/253	C/W	tgC/tgG	rs17855561,COSM713227	1		-1	KLK7	HGNC	HGNC:6368	protein_coding	YES	CCDS12812.1	ENSP00000375683	P49862	A0A024R4H6	UPI0000001BC4	NM_139277.2	deleterious(0)		6/6		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF231,SMART_domains:SM00020,Superfamily_domains:SSF50494											0,1	20981267					MODERATE		SNV	5		0,1	1										PASS		rs17855561	.												C	3	2	57	50977620	50977620	G	C	1	0	0	0	0	1	0	0	0	8278	1079	38	4		4	KLK7	19	50977620	Missense_Mutation	SNP	G	C3N-00560_TP	3493585	50977620	7639996	1193	19132											
SIGLEC8	0	.	GRCh38	chr19	51452537	51452537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatggaagctgagggttgCataatggagctctccttcct	8	14	11	8	0	1	1	0	1	1	0	3	3	2	3	2	3	3	4	2	3	3	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1342G>A	p.Ala448Thr	p.A448T	ENST00000321424	7/7	108	48	60	100	100	0	strelka-varscan-mutect	SIGLEC8,missense_variant,p.Ala448Thr,ENST00000321424,NM_014442.2;SIGLEC8,missense_variant,p.Ala339Thr,ENST00000430817,;SIGLEC8,missense_variant,p.Ala355Thr,ENST00000340550,;SIGLEC8,downstream_gene_variant,,ENST00000597352,;	T	ENST00000321424	Transcript	missense_variant	1409/2949	1342/1500	448/499	A/T	Gca/Aca		1		-1	SIGLEC8	HGNC	HGNC:10877	protein_coding	YES	CCDS33086.1	ENSP00000321077	Q9NYZ4		UPI000013598B	NM_014442.2	deleterious(0.04)		7/7		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	51452537	51452537	C	T	1	0	0	0	0	1	0	0	0	14578	710	25	3		3	SIGLEC8	19	51452537	Missense_Mutation	SNP	C	C3N-00560_TP	474917	51452537	7165079	1194	19133											
SIGLEC8	0	.	GRCh38	chr19	51457545	51457545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgaggctggtgccgtggtCctggggctttggggtaaggg	3	10	22	6	1	0	1	0	1	0	0	1	1	1	1	2	9	1	3	2	9	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.649G>A	p.Asp217Asn	p.D217N	ENST00000321424	2/7	201	94	107	203	203	0	strelka-varscan-mutect	SIGLEC8,missense_variant,p.Asp217Asn,ENST00000321424,NM_014442.2;SIGLEC8,intron_variant,,ENST00000430817,;SIGLEC8,intron_variant,,ENST00000340550,;SIGLEC8,non_coding_transcript_exon_variant,,ENST00000597352,;	T	ENST00000321424	Transcript	missense_variant	716/2949	649/1500	217/499	D/N	Gac/Aac		1		-1	SIGLEC8	HGNC	HGNC:10877	protein_coding	YES	CCDS33086.1	ENSP00000321077	Q9NYZ4		UPI000013598B	NM_014442.2	deleterious(0)		2/7		PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	51457545	51457545	C	T	1	0	0	0	0	1	0	0	0	14578	855	30	3		3	SIGLEC8	19	51457545	Missense_Mutation	SNP	C	C3N-00560_TP	5008	51457545	7160071	1195	19134											
HAS1	0	.	GRCh38	chr19	51719535	51719535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacgcgcagccgcgcgcGcgggtacagcagggcgcggg	6	1	21	13	9	0	0	0	0	0	0	0	2	0	1	1	4	3	3	1	4	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.373C>A	p.Arg125Ser	p.R125S	ENST00000222115	2/5	198	96	102	209	209	0	strelka-varscan-mutect	HAS1,missense_variant,p.Arg124Ser,ENST00000540069,NM_001297436.1;HAS1,missense_variant,p.Arg125Ser,ENST00000222115,NM_001523.3;HAS1,missense_variant,p.Arg132Ser,ENST00000601714,;HAS1,upstream_gene_variant,,ENST00000594621,;HAS1,upstream_gene_variant,,ENST00000601667,;	T	ENST00000222115	Transcript	missense_variant	408/2087	373/1737	125/578	R/S	Cgc/Agc		1		-1	HAS1	HGNC	HGNC:4818	protein_coding	YES	CCDS12838.1	ENSP00000222115	Q92839		UPI000006D531	NM_001523.3	tolerated(0.74)		2/5		Low_complexity_(Seg):seg,hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF4,Gene3D:3.90.550.10,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		rs1167931448	.												T	3	4	57	51719535	51719535	G	T	1	0	0	0	0	1	0	0	0	6847	1087	38	1		1	HAS1	19	51719535	Missense_Mutation	SNP	G	C3N-00560_TP	261990	51719535	6898081	1196	19135											
FPR1	0	.	GRCh38	chr19	51746146	51746146	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggcacttgtcacatcCactgcaataccaatttcttt	10	12	6	13	0	2	0	1	0	1	0	3	0	3	0	3	1	2	2	3	1	3	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.849G>T	p.=	p.V283V	ENST00000595042	3/3	382	200	182	399	399	0	strelka-varscan-mutect	FPR1,synonymous_variant,p.=,ENST00000595042,NM_001193306.1;FPR1,synonymous_variant,p.=,ENST00000304748,NM_002029.3;FPR1,downstream_gene_variant,,ENST00000600815,;FPR1,downstream_gene_variant,,ENST00000594900,;	A	ENST00000595042	Transcript	synonymous_variant	991/1965	849/1053	283/350	V	gtG/gtT		1		-1	FPR1	HGNC	HGNC:3826	protein_coding	YES	CCDS12839.1	ENSP00000471493	P21462		UPI0000050484	NM_001193306.1			3/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24225:SF15,hmmpanther:PTHR24225,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	57	51746146	51746146	C	A	1	0	0	0	0	0	0	0	1	5904	581	21	2		2	FPR1	19	51746146	Silent	SNP	C	C3N-00560_TP	26611	51746146	6871470	1197	19136											
FPR3	0	.	GRCh38	chr19	51824324	51824324	+	Missense_Mutation	SNP	C	C	A																															actgctgtagagaggttgaaCgtgttcattaccatggccaa																								rs147264707		C3N-00560_TP	C3N-00560_NB	C	C																c.576C>A	p.Asn192Lys	p.N192K	ENST00000339223	2/2	150	71	79	147	147	0	strelka-varscan-mutect	FPR3,missense_variant,p.Asn192Lys,ENST00000339223,NM_002030.3;FPR3,missense_variant,p.Asn192Lys,ENST00000595991,;	A	ENST00000339223	Transcript	missense_variant	755/2620	576/1062	192/353	N/K	aaC/aaA	rs147264707,COSM4080717	1		1	FPR3	HGNC	HGNC:3828	protein_coding	YES	CCDS12841.1	ENSP00000341821	P25089	Q6L5J4	UPI000011DFC1	NM_002030.3	tolerated(1)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24225:SF16,hmmpanther:PTHR24225,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs147264707	.												A	3	1	57	51824324	51824324	C	A	1	0	0	0	0	1	0	0	0	5906	535	19	1		1	FPR3	19	51824324	Missense_Mutation	SNP	C	C3N-00560_TP	78178	51824324	6793292	1198	19137	404	2									
FPR3	0	.	GRCh38	chr19	51824326	51824326	+	Missense_Mutation	SNP	T	T	G																															tgctgtagagaggttgaacgTgttcattaccatggccaagg																								rs866353243		C3N-00560_TP	C3N-00560_NB	T	T																c.578T>G	p.Val193Gly	p.V193G	ENST00000339223	2/2	150	71	79	144	143	1	strelka-varscan-mutect	FPR3,missense_variant,p.Val193Gly,ENST00000339223,NM_002030.3;FPR3,missense_variant,p.Val193Gly,ENST00000595991,;	G	ENST00000339223	Transcript	missense_variant	757/2620	578/1062	193/353	V/G	gTg/gGg	rs866353243	1		1	FPR3	HGNC	HGNC:3828	protein_coding	YES	CCDS12841.1	ENSP00000341821	P25089	Q6L5J4	UPI000011DFC1	NM_002030.3	deleterious(0)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24225:SF16,hmmpanther:PTHR24225,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		rs866353243	.												G	3	3	57	51824326	51824326	T	G	1	0	0	0	0	1	0	0	0	5906	1696	59	5		5	FPR3	19	51824326	Missense_Mutation	SNP	T	C3N-00560_TP	2	51824326	6793290	1199	19138	404	2									
VN1R2	0	.	GRCh38	chr19	53258639	53258639	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaacccaccaaacctgtGgggctggaccctacactatt	12	7	9	13	0	0	1	0	0	0	1	0	3	0	2	4	3	3	1	4	3	4	3	rs781134003		C3N-00560_TP	C3N-00560_NB	G	G																c.264G>T	p.=	p.V88V	ENST00000341702	1/1	156	69	87	138	138	0	strelka-varscan-mutect	VN1R2,synonymous_variant,p.=,ENST00000341702,NM_173856.2;ZNF677,upstream_gene_variant,,ENST00000598513,NM_001317998.1,NM_182609.2;ZNF677,upstream_gene_variant,,ENST00000594681,;ZNF677,upstream_gene_variant,,ENST00000599012,;ZNF677,upstream_gene_variant,,ENST00000601828,;ZNF677,upstream_gene_variant,,ENST00000601413,;ZNF677,upstream_gene_variant,,ENST00000598806,;ZNF677,upstream_gene_variant,,ENST00000594517,;ZNF677,upstream_gene_variant,,ENST00000595293,;VN1R2,upstream_gene_variant,,ENST00000598458,;	T	ENST00000341702	Transcript	synonymous_variant	348/1311	264/1188	88/395	V	gtG/gtT	rs781134003	1		1	VN1R2	HGNC	HGNC:19872	protein_coding	YES	CCDS12862.1	ENSP00000351244	Q8NFZ6		UPI0000062046	NM_173856.2			1/1																			LOW		SNV				1										PASS		rs781134003	.												T	2	4	57	53258639	53258639	G	T	1	0	0	0	0	0	0	0	1	17727	1335	47	2		2	VN1R2	19	53258639	Silent	SNP	G	C3N-00560_TP	1434313	53258639	5358977	1200	19139											
LILRA4	0	.	GRCh38	chr19	54338118	54338118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaggagagcctgtggtctCcttcctcaatcagagtgaac	9	10	10	12	0	3	3	2	1	1	2	6	4	5	3	4	2	2	0	4	2	2	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.473G>T	p.Gly158Val	p.G158V	ENST00000291759	4/8	291	133	158	269	269	0	strelka-varscan-mutect	LILRA4,missense_variant,p.Gly158Val,ENST00000291759,NM_012276.4;AC008984.2,upstream_gene_variant,,ENST00000616950,;LILRA4,downstream_gene_variant,,ENST00000421056,;LILRA4,upstream_gene_variant,,ENST00000595581,;	A	ENST00000291759	Transcript	missense_variant	530/1944	473/1500	158/499	G/V	gGa/gTa		1		-1	LILRA4	HGNC	HGNC:15503	protein_coding	YES	CCDS12890.1	ENSP00000291759	P59901		UPI00034F238A	NM_012276.4	deleterious(0.02)		4/8		PROSITE_profiles:PS50835,hmmpanther:PTHR11738:SF98,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF00047,PIRSF_domain:PIRSF001979,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	54338118	54338118	C	A	1	0	0	0	0	1	0	0	0	8695	855	30	2		2	LILRA4	19	54338118	Missense_Mutation	SNP	C	C3N-00560_TP	1079479	54338118	4279498	1201	19140											
LILRA1	0	.	GRCh38	chr19	54600709	54600709	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatccccagcctcacacccCcaggattacacagtggagaa	12	5	7	17	0	1	1	1	0	0	1	2	3	2	2	6	2	2	0	6	2	2	1	rs540116375		C3N-00560_TP	C3N-00560_NB	C	C																c.1362C>A	p.=	p.P454P	ENST00000251372	10/10	221	93	128	187	187	0	strelka-varscan-mutect	LILRA1,synonymous_variant,p.=,ENST00000453777,NM_001278318.1;LILRA1,synonymous_variant,p.=,ENST00000251372,NM_006863.3;LILRA1,downstream_gene_variant,,ENST00000618665,;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,downstream_gene_variant,,ENST00000495417,;LILRA1,downstream_gene_variant,,ENST00000477255,;	A	ENST00000251372	Transcript	synonymous_variant	1544/1910	1362/1470	454/489	P	ccC/ccA	rs540116375	1		1	LILRA1	HGNC	HGNC:6602	protein_coding	YES	CCDS12901.1	ENSP00000251372	O75019		UPI0000034C00	NM_006863.3			10/10		PIRSF_domain:PIRSF001979																	LOW	1	SNV	1			1										PASS		rs540116375	.												A	2	1	57	54600709	54600709	C	A	1	0	0	0	0	0	0	0	1	8693	610	22	2		2	LILRA1	19	54600709	Silent	SNP	C	C3N-00560_TP	262591	54600709	4016907	1202	19141											
LILRB4	0	.	GRCh38	chr19	54664253	54664253	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctcaggaaagagcgtgacCctgctgtgtcagtcacggag	10	7	13	11	2	3	2	3	1	0	1	3	4	3	4	2	2	2	1	2	2	1	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.423C>A	p.=	p.T141T	ENST00000391736	6/14	201	87	114	166	166	0	strelka-varscan-mutect	LILRB4,synonymous_variant,p.=,ENST00000391736,NM_001278426.3;LILRB4,synonymous_variant,p.=,ENST00000430952,NM_001278427.3;LILRB4,synonymous_variant,p.=,ENST00000391733,NM_001278429.3,NM_001278428.3;LILRB4,synonymous_variant,p.=,ENST00000391734,;LILRB4,synonymous_variant,p.=,ENST00000434286,;LILRB4,downstream_gene_variant,,ENST00000270452,;LILRB4,upstream_gene_variant,,ENST00000461262,;LILRB4,3_prime_UTR_variant,,ENST00000494796,;LILRB4,upstream_gene_variant,,ENST00000470943,;	A	ENST00000391736	Transcript	synonymous_variant	738/4002	423/1347	141/448	T	acC/acA		1		1	LILRB4	HGNC	HGNC:6608	protein_coding	YES	CCDS12902.1	ENSP00000375616	Q8NHJ6		UPI0000034C02	NM_001278426.3			6/14		PROSITE_profiles:PS50835,hmmpanther:PTHR11738:SF30,hmmpanther:PTHR11738,Pfam_domain:PF00047,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	57	54664253	54664253	C	A	1	0	0	0	0	0	0	0	1	8701	610	22	2		2	LILRB4	19	54664253	Silent	SNP	C	C3N-00560_TP	63544	54664253	3953363	1203	19142											
NLRP7	0	.	GRCh38	chr19	54941682	54941682	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgctccagaagggtctgCagagtccactctagctgggg	8	8	14	11	0	2	2	0	0	2	2	4	2	4	2	2	3	4	4	2	3	2	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.30G>T	p.=	p.L10L	ENST00000588756	4/13	119	57	62	107	107	0	strelka-varscan-mutect	NLRP7,synonymous_variant,p.=,ENST00000588756,;NLRP7,synonymous_variant,p.=,ENST00000328092,NM_139176.3;NLRP7,synonymous_variant,p.=,ENST00000592784,NM_001127255.1;NLRP7,synonymous_variant,p.=,ENST00000340844,NM_206828.3;NLRP7,synonymous_variant,p.=,ENST00000590030,;NLRP7,synonymous_variant,p.=,ENST00000590659,;NLRP7,synonymous_variant,p.=,ENST00000587103,;NLRP7,synonymous_variant,p.=,ENST00000587844,;NLRP7,synonymous_variant,p.=,ENST00000586379,;	A	ENST00000588756	Transcript	synonymous_variant	517/3826	30/3114	10/1037	L	ctG/ctT		1		-1	NLRP7	HGNC	HGNC:22947	protein_coding	YES	CCDS46183.1	ENSP00000467123	Q8WX94		UPI000174C6C4				4/13		Low_complexity_(Seg):seg,PROSITE_profiles:PS50824,hmmpanther:PTHR24106:SF14,hmmpanther:PTHR24106,Pfam_domain:PF02758,Gene3D:1.10.533.10,SMART_domains:SM01289,Superfamily_domains:SSF47986																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	54941682	54941682	C	A	1	0	0	0	0	0	0	0	1	10520	697	25	2		2	NLRP7	19	54941682	Silent	SNP	C	C3N-00560_TP	277429	54941682	3675934	1204	19143											
SHISA7	0	.	GRCh38	chr19	55442380	55442380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccccttccaaccacccggCctggccgggccctggccccc	3	4	10	24	2	0	0	0	0	0	0	1	0	1	0	10	4	1	0	10	4	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.484G>C	p.Ala162Pro	p.A162P	ENST00000376325	1/4	121	58	63	40	40	0	strelka-varscan-mutect	SHISA7,missense_variant,p.Ala162Pro,ENST00000376325,NM_001145176.1;SHISA7,upstream_gene_variant,,ENST00000416792,;	G	ENST00000376325	Transcript	missense_variant	484/6033	484/1617	162/538	A/P	Gcc/Ccc		1		-1	SHISA7	HGNC	HGNC:35409	protein_coding	YES	CCDS46193.1	ENSP00000365503	A6NL88		UPI000193055E	NM_001145176.1	tolerated(0.27)		1/4		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		rs1280741709	.												G	3	3	57	55442380	55442380	C	G	1	0	0	0	0	1	0	0	0	14545	739	26	4		4	SHISA7	19	55442380	Missense_Mutation	SNP	C	C3N-00560_TP	500698	55442380	3175236	1205	19144											
EPN1	0	.	GRCh38	chr19	55691879	55691879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccccacctcggacccctgGggcggcccccctgtccctcc	2	5	10	24	2	0	0	0	0	0	0	3	1	2	1	10	4	0	0	10	4	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1146G>T	p.Trp382Cys	p.W382C	ENST00000411543	7/11	79	38	41	88	88	0	strelka-varscan-mutect	EPN1,missense_variant,p.Trp296Cys,ENST00000270460,NM_001130072.1;EPN1,missense_variant,p.Trp382Cys,ENST00000411543,NM_001130071.1;EPN1,missense_variant,p.Trp271Cys,ENST00000085079,NM_013333.3;EPN1,upstream_gene_variant,,ENST00000589704,;AC010525.4,downstream_gene_variant,,ENST00000585559,;EPN1,downstream_gene_variant,,ENST00000591743,;EPN1,upstream_gene_variant,,ENST00000587937,;EPN1,upstream_gene_variant,,ENST00000586194,;	T	ENST00000411543	Transcript	missense_variant	1693/2621	1146/1989	382/662	W/C	tgG/tgT		1		1	EPN1	HGNC	HGNC:21604	protein_coding	YES	CCDS46198.1	ENSP00000406209	Q9Y6I3		UPI000059D7B7	NM_001130071.1	deleterious(0)		7/11		hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF48,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	55691879	55691879	G	T	1	0	0	0	0	1	0	0	0	5032	1241	43	2		2	EPN1	19	55691879	Missense_Mutation	SNP	G	C3N-00560_TP	249499	55691879	2925737	1206	19145											
NLRP13	0	.	GRCh38	chr19	55896012	55896012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagcatcttgacaccatcaGtatccaattcattgcctaga	13	12	5	11	0	3	2	2	1	1	1	4	2	4	2	3	0	2	2	3	0	4	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3065C>A	p.Thr1022Asn	p.T1022N	ENST00000342929	11/11	133	56	77	134	134	0	strelka-varscan-mutect	NLRP13,missense_variant,p.Thr1022Asn,ENST00000588751,NM_001321057.1;NLRP13,missense_variant,p.Thr1022Asn,ENST00000342929,NM_176810.2;	T	ENST00000342929	Transcript	missense_variant	3065/3132	3065/3132	1022/1043	T/N	aCt/aAt		1		-1	NLRP13	HGNC	HGNC:22937	protein_coding	YES	CCDS33119.1	ENSP00000343891	Q86W25		UPI00001AEEC8	NM_176810.2	tolerated(0.31)		11/11		Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	55896012	55896012	G	T	1	0	0	0	0	1	0	0	0	10512	1029	36	2		2	NLRP13	19	55896012	Missense_Mutation	SNP	G	C3N-00560_TP	204133	55896012	2721604	1207	19146											
ZNF543	0	.	GRCh38	chr19	57329185	57329185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagaccttttatgactGcacagacttcagtcaacatc	12	11	8	10	0	2	3	2	1	0	2	3	4	2	4	1	1	2	1	1	1	3	3	rs561081582		C3N-00560_TP	C3N-00560_NB	G	G																c.1723G>T	p.Ala575Ser	p.A575S	ENST00000321545	4/4	139	70	69	164	163	1	strelka-varscan-mutect	ZNF543,missense_variant,p.Ala575Ser,ENST00000321545,NM_213598.3;	T	ENST00000321545	Transcript	missense_variant	2068/3659	1723/1803	575/600	A/S	Gca/Tca	rs561081582	1		1	ZNF543	HGNC	HGNC:25281	protein_coding	YES	CCDS33130.1	ENSP00000322545	Q08ER8		UPI00001D8197	NM_213598.3	tolerated(0.98)		4/4																			MODERATE	1	SNV	1			1										PASS		rs561081582	.												T	3	4	57	57329185	57329185	G	T	1	0	0	0	0	1	0	0	0	18550	1319	46	2		2	ZNF543	19	57329185	Missense_Mutation	SNP	G	C3N-00560_TP	1433173	57329185	1288431	1208	19147											
ZNF417	0	.	GRCh38	chr19	57910088	57910088	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctctgcttacaaggtgcctCctcatcttttgatccacacc	7	14	5	15	0	3	1	1	1	2	0	6	1	5	1	4	1	3	1	4	1	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.190G>T	p.Glu64Ter	p.E64*	ENST00000312026	3/3	52	46	6	63	63	0	varscan-mutect	ZNF417,stop_gained,p.Glu64Ter,ENST00000312026,NM_152475.2;ZNF417,stop_gained,p.Glu63Ter,ENST00000595559,NM_001297734.1;ZNF417,stop_gained,p.Glu21Ter,ENST00000598526,;ZNF417,stop_gained,p.Glu21Ter,ENST00000597515,;ZNF417,stop_gained,p.Glu21Ter,ENST00000598629,;ZNF417,intron_variant,,ENST00000594396,;ZNF417,downstream_gene_variant,,ENST00000599251,;CTD-2583A14.9,intron_variant,,ENST00000602124,;	A	ENST00000312026	Transcript	stop_gained	355/3597	190/1728	64/575	E/*	Gag/Tag		1		-1	ZNF417	HGNC	HGNC:20646	protein_coding	YES	CCDS12965.1	ENSP00000311319	Q8TAU3		UPI000013F249	NM_152475.2			3/3		Superfamily_domains:0044637,PROSITE_profiles:PS50805,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF22,SMART_domains:SM00349																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	57	57910088	57910088	C	A	1	0	0	0	0	0	1	0	0	18466	864	30	2		2	ZNF417	19	57910088	Nonsense_Mutation	SNP	C	C3N-00560_TP	580903	57910088	707528	1209	19148											
ZNF324B	0	.	GRCh38	chr19	58455543	58455543	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagaagccatgtgcacAggaggtccctgggagagcct	9	5	16	11	1	0	2	0	0	0	2	1	4	1	3	3	4	3	2	3	4	1	0	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.599A>T	p.Gln200Leu	p.Q200L	ENST00000336614	4/4	256	130	126	286	286	0	strelka-varscan-mutect	ZNF324B,missense_variant,p.Gln200Leu,ENST00000336614,NM_207395.2;ZNF324B,missense_variant,p.Gln200Leu,ENST00000545523,;ZNF324B,downstream_gene_variant,,ENST00000598244,;ZNF324B,downstream_gene_variant,,ENST00000599193,;ZNF324B,downstream_gene_variant,,ENST00000594214,;ZNF324B,downstream_gene_variant,,ENST00000599194,;	T	ENST00000336614	Transcript	missense_variant	706/2996	599/1635	200/544	Q/L	cAg/cTg		1		1	ZNF324B	HGNC	HGNC:33107	protein_coding	YES	CCDS33138.1	ENSP00000337473	Q6AW86		UPI000022AA2D	NM_207395.2	tolerated(0.16)		4/4		hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF159																	MODERATE	1	SNV	1			1										PASS		rs1159685356	.												T	3	4	57	58455543	58455543	A	T	1	0	0	0	0	1	0	0	0	18417	188	7	4		4	ZNF324B	19	58455543	Missense_Mutation	SNP	A	C3N-00560_TP	545455	58455543	162073	1210	19149											
TGM3	0	.	GRCh38	chr20	2332085	2332085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgccgcgacgtcttcaatgGgtttggaaacagaggaacag	11	9	13	8	3	2	1	1	0	1	1	2	4	2	3	1	3	3	1	1	3	3	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1417G>T	p.Gly473Cys	p.G473C	ENST00000381458	10/13	225	163	62	166	166	0	strelka-varscan-mutect	TGM3,missense_variant,p.Gly473Cys,ENST00000381458,NM_003245.3;	T	ENST00000381458	Transcript	missense_variant	1480/2642	1417/2082	473/693	G/C	Ggt/Tgt		1		1	TGM3	HGNC	HGNC:11779	protein_coding	YES	CCDS33435.1	ENSP00000370867	Q08188		UPI0000136CCC	NM_003245.3	deleterious(0.02)		10/13		PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF36																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	2332085	2332085	G	T	1	0	0	0	0	1	0	0	0	16264	1232	43	2		2	TGM3	20	2332085	Missense_Mutation	SNP	G	C3N-00560_TP		2332085	62112082	1211	19150											
TMC2	0	.	GRCh38	chr20	2594823	2594823	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggctttgctgtcccccAgggctatatcaagtactctg	7	14	9	11	0	2	0	1	0	1	0	3	0	3	0	2	2	2	4	2	2	4	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.934-2A>C		p.X312_splice	ENST00000358864		116	79	37	87	86	1	strelka-varscan-mutect	TMC2,splice_acceptor_variant,,ENST00000358864,NM_080751.2;	C	ENST00000358864	Transcript	splice_acceptor_variant	-/3169	934/2721	312/906				1		1	TMC2	HGNC	HGNC:16527	protein_coding	YES	CCDS13029.2	ENSP00000351732	Q8TDI7		UPI0000246C98	NM_080751.2				8/19																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	57	2594823	2594823	A	C	1	0	0	0	0	0	0	1	0	16431	202	7	5		5	TMC2	20	2594823	Splice_Site	SNP	A	C3N-00560_TP	262738	2594823	61849344	1212	19151											
TMC2	0	.	GRCh38	chr20	2597280	2597280	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgataacaaatatgcatcCatcaccaccagcttcaaggt	14	9	6	12	0	2	1	2	1	0	0	3	1	3	1	3	1	3	3	3	1	4	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1206C>G	p.=	p.S402S	ENST00000358864	10/20	155	111	44	79	79	0	strelka-varscan-mutect	TMC2,synonymous_variant,p.=,ENST00000358864,NM_080751.2;TMC2,upstream_gene_variant,,ENST00000496948,;	G	ENST00000358864	Transcript	synonymous_variant	1221/3169	1206/2721	402/906	S	tcC/tcG		1		1	TMC2	HGNC	HGNC:16527	protein_coding	YES	CCDS13029.2	ENSP00000351732	Q8TDI7		UPI0000246C98	NM_080751.2			10/20		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF17																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	57	2597280	2597280	C	G	1	0	0	0	0	0	0	0	1	16431	581	21	4		4	TMC2	20	2597280	Silent	SNP	C	C3N-00560_TP	2457	2597280	61846887	1213	19152											
ITPA	0	.	GRCh38	chr20	3213384	3213384	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcaggaggcagttcgccagGtgcttgccctgcccttgtcc	4	10	13	14	1	1	0	1	0	0	0	3	1	2	1	4	3	3	3	4	3	0	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.189+1G>T		p.X63_splice	ENST00000380113		568	322	246	454	454	0	strelka-varscan-mutect	ITPA,splice_donor_variant,,ENST00000380113,NM_033453.3;ITPA,splice_donor_variant,,ENST00000455664,NM_181493.2;ITPA,intron_variant,,ENST00000399838,NM_001267623.1;ITPA,splice_donor_variant,,ENST00000490838,;ITPA,non_coding_transcript_exon_variant,,ENST00000460676,;ITPA,intron_variant,,ENST00000483354,;ITPA,intron_variant,,ENST00000460550,;ITPA,upstream_gene_variant,,ENST00000461029,;ITPA,splice_donor_variant,,ENST00000609835,;	T	ENST00000380113	Transcript	splice_donor_variant	-/1185	189/585	63/194				1		1	ITPA	HGNC	HGNC:6176	protein_coding	YES	CCDS13051.1	ENSP00000369456	Q9BY32	A0A0S2Z3W7	UPI0000072BC2	NM_033453.3				3/7																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	57	3213384	3213384	G	T	1	0	0	0	0	0	0	1	0	7821	1275	44	2		2	ITPA	20	3213384	Splice_Site	SNP	G	C3N-00560_TP	616104	3213384	61230783	1214	19153											
C20orf194	0	.	GRCh38	chr20	3381382	3381382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaatatatacttaccatCtagtacttcttcagaaaatc	15	14	2	10	0	3	1	1	0	2	1	4	1	3	1	2	0	4	1	2	0	10	9	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.280G>T	p.Asp94Tyr	p.D94Y	ENST00000252032	3/37	102	71	31	88	88	0	strelka-varscan-mutect	C20orf194,missense_variant,p.Asp94Tyr,ENST00000252032,NM_001009984.2;U3,upstream_gene_variant,,ENST00000364476,;	A	ENST00000252032	Transcript	missense_variant	348/6869	280/3534	94/1177	D/Y	Gat/Tat		1		-1	C20orf194	HGNC	HGNC:17721	protein_coding	YES	CCDS42851.1	ENSP00000252032	Q5TEA3		UPI0000470A8D	NM_001009984.2	deleterious(0)		3/37		hmmpanther:PTHR33664,hmmpanther:PTHR33664:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	3381382	3381382	C	A	1	0	0	0	0	1	0	0	0	2005	927	32	2		2	C20orf194	20	3381382	Missense_Mutation	SNP	C	C3N-00560_TP	167998	3381382	61062785	1215	19154											
SIGLEC1	0	.	GRCh38	chr20	3692563	3692563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggagctgcgggtgccctGggcatcctgggcctggcaag	5	6	18	12	2	0	0	0	0	0	0	1	1	1	1	3	5	3	3	3	5	1	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3988C>A	p.Gln1330Lys	p.Q1330K	ENST00000344754	15/21	286	196	90	170	170	0	strelka-varscan-mutect	SIGLEC1,missense_variant,p.Gln1330Lys,ENST00000344754,NM_023068.3;SIGLEC1,missense_variant,p.Gln144Lys,ENST00000419548,;	T	ENST00000344754	Transcript	missense_variant	3988/6720	3988/5130	1330/1709	Q/K	Cag/Aag		1		-1	SIGLEC1	HGNC	HGNC:11127	protein_coding	YES	CCDS13060.1	ENSP00000341141	Q9BZZ2		UPI0000049BA6	NM_023068.3	tolerated(0.15)		15/21		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF70,SMART_domains:SM00408,SMART_domains:SM00409																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	3692563	3692563	G	T	1	0	0	0	0	1	0	0	0	14569	1357	47	2		2	SIGLEC1	20	3692563	Missense_Mutation	SNP	G	C3N-00560_TP	311181	3692563	60751604	1216	19155											
HSPA12B	0	.	GRCh38	chr20	3745543	3745543	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatggaaagacgatgccCgccctggaggtgttcgccca	10	7	13	11	3	0	1	0	0	0	1	1	4	0	3	3	3	1	2	3	3	3	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.504C>A	p.=	p.P168P	ENST00000254963	6/13	342	251	91	275	275	0	strelka-varscan-mutect	HSPA12B,synonymous_variant,p.=,ENST00000254963,NM_052970.4,NM_001197327.1;HSPA12B,synonymous_variant,p.=,ENST00000399701,NM_001318322.1;	A	ENST00000254963	Transcript	synonymous_variant	649/3151	504/2061	168/686	P	ccC/ccA		1		1	HSPA12B	HGNC	HGNC:16193	protein_coding	YES	CCDS13061.1	ENSP00000254963	Q96MM6		UPI00001285E5	NM_052970.4,NM_001197327.1			6/13		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF39,Superfamily_domains:SSF53067																	LOW	1	SNV	1			1										PASS		rs1229963734	.												A	2	1	57	3745543	3745543	C	A	1	0	0	0	0	0	0	0	1	7301	639	23	1		1	HSPA12B	20	3745543	Silent	SNP	C	C3N-00560_TP	52980	3745543	60698624	1217	19156											
PROKR2	0	.	GRCh38	chr20	5302464	5302464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagctcccgggagatcctgGcatagcacagggtcatggtg	9	7	15	10	1	1	2	1	0	0	2	3	3	3	2	2	4	2	3	2	4	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.731C>A	p.Ala244Asp	p.A244D	ENST00000217270	2/2	599	385	214	490	489	1	strelka-varscan-mutect	PROKR2,missense_variant,p.Ala244Asp,ENST00000217270,NM_144773.2;	T	ENST00000217270	Transcript	missense_variant	731/1155	731/1155	244/384	A/D	gCc/gAc		1		-1	PROKR2	HGNC	HGNC:15836	protein_coding	YES	CCDS13089.1	ENSP00000217270	Q8NFJ6		UPI000003BCC6	NM_144773.2	deleterious(0.02)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF234,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	5302464	5302464	G	T	1	0	0	0	0	1	0	0	0	12686	1203	42	2		2	PROKR2	20	5302464	Missense_Mutation	SNP	G	C3N-00560_TP	1556921	5302464	59141703	1218	19157											
C20orf196	0	.	GRCh38	chr20	5772872	5772872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatggcaggactatggcaGccagggacgccacttcaggc	9	6	13	13	1	1	0	1	0	0	0	2	2	2	2	3	5	1	2	3	5	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.7G>T	p.Ala3Ser	p.A3S	ENST00000303142	2/3	94	60	34	78	78	0	strelka-varscan-mutect	C20orf196,missense_variant,p.Ala3Ser,ENST00000303142,NM_001303477.1,NM_152504.3;C20orf196,missense_variant,p.Ala50Ser,ENST00000442185,;C20orf196,missense_variant,p.Ala3Ser,ENST00000378979,NM_001303479.1;C20orf196,missense_variant,p.Ala3Ser,ENST00000445603,;	T	ENST00000303142	Transcript	missense_variant	94/1154	7/618	3/205	A/S	Gcc/Tcc		1		1	C20orf196	HGNC	HGNC:26318	protein_coding	YES	CCDS13091.1	ENSP00000305875	Q8IYI0		UPI0000074251	NM_001303477.1,NM_152504.3	tolerated(0.36)		2/3		Pfam_domain:PF15021,hmmpanther:PTHR36863,hmmpanther:PTHR36863:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	5772872	5772872	G	T	1	0	0	0	0	1	0	0	0	2006	971	34	2		2	C20orf196	20	5772872	Missense_Mutation	SNP	G	C3N-00560_TP	470408	5772872	58671295	1219	19158											
PAX1	0	.	GRCh38	chr20	21705811	21705811	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagcgggcggcagcgcgctCcgctgccgcgcacagcgcgt	4	3	18	16	9	0	0	0	0	0	0	1	1	1	1	2	3	4	4	2	3	0	0	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.99C>A	p.=	p.L33L	ENST00000398485	1/5	78	62	16	11	11	0	strelka-mutect	PAX1,synonymous_variant,p.=,ENST00000613128,NM_001257096.1;PAX1,synonymous_variant,p.=,ENST00000398485,NM_006192.4;PAX1,upstream_gene_variant,,ENST00000444366,;RP5-1065O2.4,upstream_gene_variant,,ENST00000624692,;PAX1,intron_variant,,ENST00000460221,;PAX1,upstream_gene_variant,,ENST00000485038,;	A	ENST00000398485	Transcript	synonymous_variant	153/2838	99/1605	33/534	L	ctC/ctA		1		1	PAX1	HGNC	HGNC:8615	protein_coding	YES	CCDS13146.2	ENSP00000381499	P15863		UPI000179A786	NM_006192.4			1/5																			LOW		SNV	5			1										PASS		.	.												A	2	1	57	21705811	21705811	C	A	1	0	0	0	0	0	0	0	1	11563	842	30	2		2	PAX1	20	21705811	Silent	SNP	C	C3N-00560_TP	15932939	21705811	42738356	1220	19159											
SSTR4	0	.	GRCh38	chr20	23036168	23036168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgtgctggccattggcCtgtgctacctgctcatcgtg	3	12	12	14	2	1	0	1	0	0	0	2	0	1	0	4	2	5	3	4	2	1	2			C3N-00560_TP	C3N-00560_NB	C	C																c.685C>A	p.Leu229Met	p.L229M	ENST00000255008	1/1	148	98	50	108	108	0	strelka-varscan-mutect	SSTR4,missense_variant,p.Leu229Met,ENST00000255008,NM_001052.2;RP4-753D10.3,intron_variant,,ENST00000440921,;RP4-753D10.3,upstream_gene_variant,,ENST00000419734,;	A	ENST00000255008	Transcript	missense_variant	783/1427	685/1167	229/388	L/M	Ctg/Atg	COSM5559010	1		1	SSTR4	HGNC	HGNC:11333	protein_coding	YES	CCDS42856.1	ENSP00000255008	P31391		UPI000013CE7A	NM_001052.2	tolerated(0.07)		1/1		Transmembrane_helices:TMhelix,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF0,Prints_domain:PR00237											1						MODERATE		SNV			1	1										PASS		rs1047538726	.												A	3	1	57	23036168	23036168	C	A	1	0	0	0	0	1	0	0	0	15577	680	24	2		2	SSTR4	20	23036168	Missense_Mutation	SNP	C	C3N-00560_TP	1330357	23036168	41407999	1221	19160											
CST4	0	.	GRCh38	chr20	23688873	23688873	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctgcatcatagatgcCacctgggattatcctattct	9	13	9	10	0	3	1	1	0	2	1	4	3	4	2	3	2	2	1	3	2	3	4	rs761780683		C3N-00560_TP	C3N-00560_NB	C	C																c.97G>T	p.Gly33Cys	p.G33C	ENST00000217423	1/3	490	385	105	320	320	0	strelka-varscan-mutect	CST4,missense_variant,p.Gly33Cys,ENST00000217423,NM_001899.2;	A	ENST00000217423	Transcript	missense_variant	168/751	97/426	33/141	G/C	Ggc/Tgc	rs761780683	1		-1	CST4	HGNC	HGNC:2476	protein_coding	YES	CCDS13159.1	ENSP00000217423	P01036		UPI0000049812	NM_001899.2	tolerated(0.07)		1/3		Gene3D:3.10.450.10,Pfam_domain:PF00031,hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF54,SMART_domains:SM00043,Superfamily_domains:SSF54403																	MODERATE	1	SNV	1			1										PASS		rs761780683	.												A	3	1	57	23688873	23688873	C	A	1	0	0	0	0	1	0	0	0	3774	594	21	2		2	CST4	20	23688873	Missense_Mutation	SNP	C	C3N-00560_TP	652705	23688873	40755294	1222	19161											
CST2	0	.	GRCh38	chr20	23825239	23825239	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggctgttcatggaaggCacaggtgtccaagttgggct	7	12	14	8	0	2	0	1	0	1	0	3	1	3	1	1	5	0	5	1	5	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.313G>C	p.Ala105Pro	p.A105P	ENST00000304725	2/3	395	252	143	224	224	0	strelka-varscan-mutect	CST2,missense_variant,p.Ala105Pro,ENST00000304725,NM_001322.2;	G	ENST00000304725	Transcript	missense_variant	384/748	313/426	105/141	A/P	Gcc/Ccc		1		-1	CST2	HGNC	HGNC:2474	protein_coding	YES	CCDS13161.1	ENSP00000307540	P09228		UPI0000128D74	NM_001322.2	tolerated(1)		2/3		hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF48,Pfam_domain:PF00031,Gene3D:3.10.450.10,SMART_domains:SM00043,Superfamily_domains:SSF54403																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	57	23825239	23825239	C	G	1	0	0	0	0	1	0	0	0	3772	710	25	4		4	CST2	20	23825239	Missense_Mutation	SNP	C	C3N-00560_TP	136366	23825239	40618928	1223	19162											
ACSS1	0	.	GRCh38	chr20	25013968	25013968	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccatacacaccttctcaTccatgaggacggggacgatg	10	7	11	13	2	1	1	1	1	1	0	3	4	2	3	3	4	1	0	3	4	1	2	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1445A>T	p.Asp482Val	p.D482V	ENST00000323482	9/14	124	58	66	122	122	0	strelka-varscan-mutect	ACSS1,missense_variant,p.Asp482Val,ENST00000323482,NM_032501.3,NM_001252675.1;ACSS1,missense_variant,p.Asp361Val,ENST00000537502,NM_001252676.1;ACSS1,missense_variant,p.Asp482Val,ENST00000432802,NM_001252677.1;ACSS1,upstream_gene_variant,,ENST00000484396,;	A	ENST00000323482	Transcript	missense_variant	1525/3680	1445/2070	482/689	D/V	gAt/gTt		1		-1	ACSS1	HGNC	HGNC:16091	protein_coding	YES	CCDS13167.1	ENSP00000316924	Q9NUB1		UPI00001615FE	NM_032501.3,NM_001252675.1	deleterious(0)		9/14		Gene3D:2.30.38.10,Pfam_domain:PF00501,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF110,Superfamily_domains:SSF56801,TIGRFAM_domain:TIGR02188																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	25013968	25013968	T	A	1	0	0	0	0	1	0	0	0	231	1435	50	4		4	ACSS1	20	25013968	Missense_Mutation	SNP	T	C3N-00560_TP	1188729	25013968	39430199	1224	19163											
DNMT3B	0	.	GRCh38	chr20	32795527	32795527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgaggggatgaagatcaGagccgaggtgattgttgggt	10	8	18	5	2	1	4	1	2	0	2	1	8	1	5	2	4	1	1	2	4	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1245G>T	p.Gln415His	p.Q415H	ENST00000328111	11/23	297	157	140	393	392	1	strelka-varscan-mutect	DNMT3B,missense_variant,p.Gln415His,ENST00000328111,NM_006892.3;DNMT3B,missense_variant,p.Gln407His,ENST00000201963,NM_175850.2;DNMT3B,missense_variant,p.Gln395His,ENST00000353855,NM_175848.1;DNMT3B,missense_variant,p.Gln395His,ENST00000348286,NM_175849.1;DNMT3B,missense_variant,p.Gln353His,ENST00000443239,NM_001207055.1;DNMT3B,missense_variant,p.Gln319His,ENST00000456297,NM_001207056.1;	T	ENST00000328111	Transcript	missense_variant	1566/4336	1245/2562	415/853	Q/H	caG/caT		1		1	DNMT3B	HGNC	HGNC:2979	protein_coding	YES	CCDS13205.1	ENSP00000328547	Q9UBC3		UPI0000001046	NM_006892.3	deleterious(0.03)		11/23		hmmpanther:PTHR23068:SF9,hmmpanther:PTHR23068																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	32795527	32795527	G	T	1	0	0	0	0	1	0	0	0	4490	933	33	2		2	DNMT3B	20	32795527	Missense_Mutation	SNP	G	C3N-00560_TP	7781559	32795527	31648640	1225	19164											
SOGA1	0	.	GRCh38	chr20	36815358	36815358	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgttgtcgggggcctcaTgcagccggaagtcagcacac	7	7	14	13	3	2	0	2	0	0	0	3	1	2	1	2	3	3	4	2	3	1	1	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.2084A>T	p.His695Leu	p.H695L	ENST00000237536	5/15	179	101	78	192	192	0	strelka-varscan-mutect	SOGA1,missense_variant,p.His695Leu,ENST00000237536,NM_080627.2;SOGA1,missense_variant,p.His457Leu,ENST00000279034,NM_199181.2;SOGA1,missense_variant,p.His309Leu,ENST00000465671,;	A	ENST00000237536	Transcript	missense_variant	2426/14371	2084/4986	695/1661	H/L	cAt/cTt		1		-1	SOGA1	HGNC	HGNC:16111	protein_coding	YES	CCDS54459.1	ENSP00000237536	O94964		UPI0000E5A319	NM_080627.2	tolerated(0.39)		5/15		hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	36815358	36815358	T	A	1	0	0	0	0	1	0	0	0	15244	1464	51	4		4	SOGA1	20	36815358	Missense_Mutation	SNP	T	C3N-00560_TP	4019831	36815358	27628809	1226	19165											
KIAA1755	0	.	GRCh38	chr20	38241669	38241669	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatttccctcaaagtcactGttgatggcctccagccattc	8	12	8	13	0	2	1	2	1	0	0	5	2	4	2	4	2	1	1	4	2	1	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.462C>T	p.=	p.N154N	ENST00000279024	3/14	334	176	158	386	386	0	strelka-varscan-mutect	KIAA1755,synonymous_variant,p.=,ENST00000279024,NM_001029864.1;KIAA1755,synonymous_variant,p.=,ENST00000496900,;KIAA1755,upstream_gene_variant,,ENST00000611812,;	A	ENST00000279024	Transcript	synonymous_variant	734/6429	462/3603	154/1200	N	aaC/aaT		1		-1	KIAA1755	HGNC	HGNC:29372	protein_coding	YES	CCDS33467.1	ENSP00000279024	Q5JYT7		UPI000041AADF	NM_001029864.1			3/14		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF125																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	57	38241669	38241669	G	A	1	0	0	0	0	0	0	0	1	8128	1368	48	3		3	KIAA1755	20	38241669	Silent	SNP	G	C3N-00560_TP	1426311	38241669	26202498	1227	19166											
PPP1R16B	0	.	GRCh38	chr20	38836124	38836124	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcaagaaagtgtccttcGaggccagcgtggccctgctg	7	7	14	13	3	0	1	0	0	0	1	2	2	1	1	4	2	2	2	4	2	2	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.199G>T	p.Glu67Ter	p.E67*	ENST00000299824	2/11	141	67	74	163	163	0	strelka-varscan-mutect	PPP1R16B,stop_gained,p.Glu67Ter,ENST00000299824,NM_015568.2;PPP1R16B,stop_gained,p.Glu67Ter,ENST00000373331,NM_001172735.1;PPP1R16B,non_coding_transcript_exon_variant,,ENST00000468265,;PPP1R16B,upstream_gene_variant,,ENST00000463749,;	T	ENST00000299824	Transcript	stop_gained	388/6251	199/1704	67/567	E/*	Gag/Tag		1		1	PPP1R16B	HGNC	HGNC:15850	protein_coding	YES	CCDS13309.1	ENSP00000299824	Q96T49		UPI0000132059	NM_015568.2			2/11		PROSITE_profiles:PS50297,hmmpanther:PTHR24186,hmmpanther:PTHR24186:SF6,PIRSF_domain:PIRSF038159,SMART_domains:SM00248,Superfamily_domains:SSF48403																	HIGH	1	SNV	1			1										PASS		rs1251633174	.												T	4	4	57	38836124	38836124	G	T	1	0	0	0	0	0	1	0	0	12476	1059	37	1		1	PPP1R16B	20	38836124	Nonsense_Mutation	SNP	G	C3N-00560_TP	594455	38836124	25608043	1228	19167											
L3MBTL1	0	.	GRCh38	chr20	43534845	43534845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagatccactttgatggctgGagtcatggctatgatttctg	8	14	11	8	0	2	3	1	2	1	1	3	4	3	4	1	3	0	2	1	3	1	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1662G>T	p.Trp554Cys	p.W554C	ENST00000418998	16/22	158	75	83	159	159	0	strelka-varscan-mutect	L3MBTL1,missense_variant,p.Trp272Cys,ENST00000422861,;L3MBTL1,missense_variant,p.Trp554Cys,ENST00000418998,NM_032107.4;L3MBTL1,missense_variant,p.Trp486Cys,ENST00000373135,NM_015478.6;L3MBTL1,missense_variant,p.Trp554Cys,ENST00000427442,;L3MBTL1,missense_variant,p.Trp486Cys,ENST00000373134,;L3MBTL1,3_prime_UTR_variant,,ENST00000445228,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000373133,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000497347,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000483547,;L3MBTL1,upstream_gene_variant,,ENST00000494117,;L3MBTL1,downstream_gene_variant,,ENST00000485334,;	T	ENST00000418998	Transcript	missense_variant	1738/3365	1662/2523	554/840	W/C	tgG/tgT		1		1	L3MBTL1	HGNC	HGNC:15905	protein_coding	YES	CCDS46602.2	ENSP00000398516	Q9Y468		UPI0001E18E26	NM_032107.4	deleterious(0)		16/22		PROSITE_profiles:PS51079,hmmpanther:PTHR12247:SF69,hmmpanther:PTHR12247,Pfam_domain:PF02820,Gene3D:2.30.30.160,SMART_domains:SM00561,Superfamily_domains:SSF63748																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	43534845	43534845	G	T	1	0	0	0	0	1	0	0	0	8493	1183	41	2		2	L3MBTL1	20	43534845	Missense_Mutation	SNP	G	C3N-00560_TP	4698721	43534845	20909322	1229	19168											
DBNDD2	0	.	GRCh38	chr20	45406498	45406498	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaagtaccagtagccgCgctcgcaggggctgcctccg	6	7	14	14	4	0	0	0	0	0	0	2	1	1	1	4	3	3	5	4	3	3	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.47C>A	p.Ala16Glu	p.A16E	ENST00000372720	1/4	120	67	53	119	119	0	strelka-varscan-mutect	DBNDD2,missense_variant,p.Ala16Glu,ENST00000372720,NM_018478.3;DBNDD2,intron_variant,,ENST00000372722,NM_001048222.2;DBNDD2,intron_variant,,ENST00000372723,NM_001048221.2;DBNDD2,intron_variant,,ENST00000357275,NM_001197140.1;DBNDD2,upstream_gene_variant,,ENST00000372712,;DBNDD2,upstream_gene_variant,,ENST00000372710,NM_001048225.2;DBNDD2,upstream_gene_variant,,ENST00000443296,NM_001048226.2;DBNDD2,upstream_gene_variant,,ENST00000372717,NM_001048224.2;DBNDD2,upstream_gene_variant,,ENST00000360981,NM_001197139.1,NM_001048223.2;TP53TG5,intron_variant,,ENST00000494455,;SYS1-DBNDD2,intron_variant,,ENST00000475242,;TP53TG5,intron_variant,,ENST00000468375,;TP53TG5,upstream_gene_variant,,ENST00000488588,;SYS1-DBNDD2,intron_variant,,ENST00000419593,;SYS1-DBNDD2,intron_variant,,ENST00000452133,;SYS1-DBNDD2,intron_variant,,ENST00000458187,;	A	ENST00000372720	Transcript	missense_variant	278/1481	47/780	16/259	A/E	gCg/gAg		1		1	DBNDD2	HGNC	HGNC:15881	protein_coding		CCDS56193.1	ENSP00000361805	Q9BQY9		UPI0000071AED	NM_018478.3	deleterious_low_confidence(0)		1/4		Low_complexity_(Seg):seg																	MODERATE		SNV	1			1										PASS		rs1394579358	.												A	3	1	57	45406498	45406498	C	A	1	0	0	0	0	1	0	0	0	4054	768	27	1		1	DBNDD2	20	45406498	Missense_Mutation	SNP	C	C3N-00560_TP	1871653	45406498	19037669	1230	19169											
DNTTIP1	0	.	GRCh38	chr20	45811187	45811187	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgttgaagcacctccaCagacctgaggccgggtcccc	7	7	12	15	1	0	3	0	2	0	1	2	3	2	3	6	2	2	3	6	2	1	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.982C>T	p.Gln328Ter	p.Q328*	ENST00000372622	13/13	50	23	27	45	45	0	strelka-varscan-mutect	DNTTIP1,stop_gained,p.Gln328Ter,ENST00000372622,NM_052951.2;DNTTIP1,stop_gained,p.Gln279Ter,ENST00000456939,;DNTTIP1,stop_gained,p.Gln231Ter,ENST00000435014,;UBE2C,upstream_gene_variant,,ENST00000372568,NM_181801.3;UBE2C,upstream_gene_variant,,ENST00000356455,NM_007019.3;UBE2C,upstream_gene_variant,,ENST00000335046,NM_181799.2;UBE2C,upstream_gene_variant,,ENST00000617055,NM_001281741.1;UBE2C,upstream_gene_variant,,ENST00000352551,NM_181800.2;UBE2C,upstream_gene_variant,,ENST00000405520,NM_001281742.1;UBE2C,upstream_gene_variant,,ENST00000243893,;UBE2C,upstream_gene_variant,,ENST00000496085,;	T	ENST00000372622	Transcript	stop_gained	1050/1290	982/990	328/329	Q/*	Cag/Tag		1		1	DNTTIP1	HGNC	HGNC:16160	protein_coding	YES	CCDS13369.1	ENSP00000361705	Q9H147		UPI0000136B4E	NM_052951.2			13/13		hmmpanther:PTHR23399																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	45811187	45811187	C	T	1	0	0	0	0	0	1	0	0	4495	479	17	3		3	DNTTIP1	20	45811187	Nonsense_Mutation	SNP	C	C3N-00560_TP	404689	45811187	18632980	1231	19170											
MOCS3	0	.	GRCh38	chr20	50960105	50960105	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgactcacagaaagcCgtgaagatcctccagtcctt	13	8	9	11	1	1	4	1	2	0	2	4	5	4	5	4	1	1	0	4	1	3	1	rs766995677		C3N-00560_TP	C3N-00560_NB	C	C																c.1263C>T	p.=	p.A421A	ENST00000244051	1/1	573	483	90	237	237	0	strelka-varscan-mutect	MOCS3,synonymous_variant,p.=,ENST00000244051,NM_014484.4;DPM1,upstream_gene_variant,,ENST00000371582,NM_001317035.1;DPM1,upstream_gene_variant,,ENST00000371588,NM_003859.1;DPM1,upstream_gene_variant,,ENST00000371584,;DPM1,upstream_gene_variant,,ENST00000413082,;DPM1,upstream_gene_variant,,ENST00000466152,;	T	ENST00000244051	Transcript	synonymous_variant	1280/5106	1263/1383	421/460	A	gcC/gcT	rs766995677	1		1	MOCS3	HGNC	HGNC:15765	protein_coding	YES	CCDS13435.1	ENSP00000244051	O95396		UPI000012F369	NM_014484.4			1/1		Gene3D:3.40.250.10,HAMAP:MF_03049,Pfam_domain:PF00581,PROSITE_profiles:PS50206,hmmpanther:PTHR10953,SMART_domains:SM00450,Superfamily_domains:SSF69572																	LOW		SNV				1										PASS		rs766995677	.												T	2	4	57	50960105	50960105	C	T	1	0	0	0	0	0	0	0	1	9655	639	23	1		1	MOCS3	20	50960105	Silent	SNP	C	C3N-00560_TP	5148918	50960105	13484062	1232	19171											
MOCS3	0	.	GRCh38	chr20	50960216	50960216	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcgatggaacatttccAcagtactgaggtgactggta	14	10	10	7	1	0	2	0	2	0	0	2	4	1	3	1	3	2	2	1	3	5	3	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1374A>T	p.=	p.P458P	ENST00000244051	1/1	155	52	103	43	43	0	strelka-varscan-mutect	MOCS3,synonymous_variant,p.=,ENST00000244051,NM_014484.4;DPM1,upstream_gene_variant,,ENST00000371582,NM_001317035.1;DPM1,upstream_gene_variant,,ENST00000371588,NM_003859.1;DPM1,upstream_gene_variant,,ENST00000371584,;DPM1,upstream_gene_variant,,ENST00000413082,;DPM1,upstream_gene_variant,,ENST00000466152,;	T	ENST00000244051	Transcript	synonymous_variant	1391/5106	1374/1383	458/460	P	ccA/ccT		1		1	MOCS3	HGNC	HGNC:15765	protein_coding	YES	CCDS13435.1	ENSP00000244051	O95396		UPI000012F369	NM_014484.4			1/1		HAMAP:MF_03049,PROSITE_profiles:PS50206,hmmpanther:PTHR10953																	LOW		SNV				1										PASS		.	.												T	2	4	57	50960216	50960216	A	T	1	0	0	0	0	0	0	0	1	9655	146	6	4		4	MOCS3	20	50960216	Silent	SNP	A	C3N-00560_TP	111	50960216	13483951	1233	19172											
ZFP64	0	.	GRCh38	chr20	52084685	52084685	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgttctcactctgatCactgtgctgcttcttgtggc	3	18	9	11	0	5	1	2	1	4	0	6	1	5	1	0	1	2	4	0	1	0	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1810G>T	p.Asp604Tyr	p.D604Y	ENST00000361387	9/9	242	143	99	345	345	0	strelka-varscan-mutect	ZFP64,missense_variant,p.Asp604Tyr,ENST00000361387,NM_199427.2;ZFP64,missense_variant,p.Asp385Tyr,ENST00000371523,NM_001319146.1;ZFP64,intron_variant,,ENST00000371518,;ZFP64,downstream_gene_variant,,ENST00000395989,;ZFP64,downstream_gene_variant,,ENST00000456175,;ZFP64,downstream_gene_variant,,ENST00000477786,;ZFP64,downstream_gene_variant,,ENST00000467811,;	A	ENST00000361387	Transcript	missense_variant	1871/2545	1810/1938	604/645	D/Y	Gat/Tat		1		-1	ZFP64	HGNC	HGNC:15940	protein_coding		CCDS13439.1	ENSP00000355179	Q9NTW7		UPI000013C56C	NM_199427.2	deleterious(0.03)		9/9		PROSITE_profiles:PS50157,hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF34,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1404427482	.												A	3	1	57	52084685	52084685	C	A	1	0	0	0	0	1	0	0	0	18228	826	29	2		2	ZFP64	20	52084685	Missense_Mutation	SNP	C	C3N-00560_TP	1124469	52084685	12359482	1234	19173											
ZFP64	0	.	GRCh38	chr20	52088456	52088456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggcataggggcagagctgGcatttgtacggccgctcatc	7	9	14	11	2	1	1	1	0	0	1	2	1	1	1	1	5	2	6	1	5	2	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1164C>G	p.Cys388Trp	p.C388W	ENST00000361387	8/9	377	200	177	502	502	0	strelka-varscan-mutect	ZFP64,missense_variant,p.Cys388Trp,ENST00000361387,NM_199427.2;ZFP64,missense_variant,p.Cys169Trp,ENST00000371523,NM_001319146.1;ZFP64,missense_variant,p.Cys388Trp,ENST00000371518,;ZFP64,missense_variant,p.Cys191Trp,ENST00000395989,;ZFP64,missense_variant,p.Cys94Trp,ENST00000456175,;ZFP64,non_coding_transcript_exon_variant,,ENST00000467811,;ZFP64,downstream_gene_variant,,ENST00000477786,;	C	ENST00000361387	Transcript	missense_variant	1225/2545	1164/1938	388/645	C/W	tgC/tgG		1		-1	ZFP64	HGNC	HGNC:15940	protein_coding		CCDS13439.1	ENSP00000355179	Q9NTW7		UPI000013C56C	NM_199427.2	deleterious(0)		8/9		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	52088456	52088456	G	C	1	0	0	0	0	1	0	0	0	18228	1195	42	4		4	ZFP64	20	52088456	Missense_Mutation	SNP	G	C3N-00560_TP	3771	52088456	12355711	1235	19174											
CYP24A1	0	.	GRCh38	chr20	54158158	54158158	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtaaatggtacactcggCgtaagcctgaaaagataaaa	16	9	10	6	2	0	2	0	1	0	1	1	2	0	2	1	2	2	4	1	2	8	5	rs373504037		C3N-00560_TP	C3N-00560_NB	C	C																c.1164G>C	p.=	p.T388T	ENST00000216862	9/12	288	182	106	351	351	0	strelka-varscan-mutect	CYP24A1,synonymous_variant,p.=,ENST00000216862,NM_000782.4;CYP24A1,synonymous_variant,p.=,ENST00000395955,NM_001128915.1;CYP24A1,synonymous_variant,p.=,ENST00000395954,;CYP24A1,upstream_gene_variant,,ENST00000460643,;CYP24A1,downstream_gene_variant,,ENST00000487593,;	G	ENST00000216862	Transcript	synonymous_variant	1558/3262	1164/1545	388/514	T	acG/acC	rs373504037	1		-1	CYP24A1	HGNC	HGNC:2602	protein_coding	YES	CCDS33491.1	ENSP00000216862	Q07973		UPI00001281B8	NM_000782.4			9/12		hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF5,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00385,Prints_domain:PR00463																	LOW	1	SNV	1			1										PASS		rs373504037	.												G	2	3	57	54158158	54158158	C	G	1	0	0	0	0	0	0	0	1	3957	755	27	4		4	CYP24A1	20	54158158	Silent	SNP	C	C3N-00560_TP	2069702	54158158	10286009	1236	19175											
CASS4	0	.	GRCh38	chr20	56437314	56437314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccatgggaggcaaggcctgGcccctgccaaccgcctccaa	8	5	11	17	1	0	0	0	0	0	0	2	1	2	1	8	4	2	1	8	4	3	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.187G>T	p.Ala63Ser	p.A63S	ENST00000360314	3/7	154	112	42	130	130	0	strelka-varscan-mutect	CASS4,missense_variant,p.Ala63Ser,ENST00000434344,NM_001164115.1;CASS4,missense_variant,p.Ala63Ser,ENST00000360314,NM_001164116.1,NM_020356.3,NM_001164114.1;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;	T	ENST00000360314	Transcript	missense_variant	412/2619	187/2361	63/786	A/S	Gcc/Tcc		1		1	CASS4	HGNC	HGNC:15878	protein_coding	YES	CCDS33492.1	ENSP00000353462	Q9NQ75		UPI00001285DB	NM_001164116.1,NM_020356.3,NM_001164114.1	deleterious(0)		3/7		PROSITE_profiles:PS50002,hmmpanther:PTHR10654:SF19,hmmpanther:PTHR10654,Gene3D:2.30.30.40,Pfam_domain:PF14604,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	56437314	56437314	G	T	1	0	0	0	0	1	0	0	0	2382	1203	42	2		2	CASS4	20	56437314	Missense_Mutation	SNP	G	C3N-00560_TP	2279156	56437314	8006853	1237	19176											
FAM209B	0	.	GRCh38	chr20	56533420	56533420	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgttctcttctctgagaCagaaaactagcgaaccccag	12	11	7	11	1	2	2	0	1	2	2	4	4	2	2	2	0	3	1	2	0	5	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.79C>A	p.Gln27Lys	p.Q27K	ENST00000371325	1/2	504	352	152	456	456	0	strelka-varscan-mutect	FAM209B,missense_variant,p.Gln27Lys,ENST00000371325,NM_001013646.3;	A	ENST00000371325	Transcript	missense_variant	175/694	79/516	27/171	Q/K	Cag/Aag		1		1	FAM209B	HGNC	HGNC:16101	protein_coding	YES	CCDS33494.1	ENSP00000360376	Q5JX69		UPI00001D82E0	NM_001013646.3	tolerated(0.05)		1/2		hmmpanther:PTHR35157:SF2,hmmpanther:PTHR35157,Pfam_domain:PF15206																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	56533420	56533420	C	A	1	0	0	0	0	1	0	0	0	5392	479	17	2		2	FAM209B	20	56533420	Missense_Mutation	SNP	C	C3N-00560_TP	96106	56533420	7910747	1238	19177											
ZBP1	0	.	GRCh38	chr20	57610302	57610302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggcggcttccccctcagGgtgagttcctggactgggaa	5	9	15	12	1	1	1	1	1	0	0	3	3	3	3	3	5	0	2	3	5	1	2	rs778416170		C3N-00560_TP	C3N-00560_NB	G	G																c.940C>A	p.Pro314Thr	p.P314T	ENST00000371173	7/8	514	347	167	353	352	1	strelka-varscan-mutect	ZBP1,missense_variant,p.Pro314Thr,ENST00000371173,NM_001160417.1,NM_030776.2;ZBP1,missense_variant,p.Pro239Thr,ENST00000395822,NM_001160418.1;ZBP1,downstream_gene_variant,,ENST00000541799,NM_001160419.2;ZBP1,upstream_gene_variant,,ENST00000453793,;ZBP1,downstream_gene_variant,,ENST00000538947,;ZBP1,downstream_gene_variant,,ENST00000432548,;ZBP1,downstream_gene_variant,,ENST00000546110,;ZBP1,non_coding_transcript_exon_variant,,ENST00000461547,;ZBP1,downstream_gene_variant,,ENST00000480037,;	T	ENST00000371173	Transcript	missense_variant	1118/2195	940/1290	314/429	P/T	Cct/Act	rs778416170	1		-1	ZBP1	HGNC	HGNC:16176	protein_coding	YES	CCDS13461.1	ENSP00000360215	Q9H171		UPI000013CB5B	NM_001160417.1,NM_030776.2	tolerated(0.1)		7/8		hmmpanther:PTHR14966																	MODERATE	1	SNV	1			1										PASS		rs778416170	.												T	3	4	57	57610302	57610302	G	T	1	0	0	0	0	1	0	0	0	18087	1232	43	2		2	ZBP1	20	57610302	Missense_Mutation	SNP	G	C3N-00560_TP	1076882	57610302	6833865	1239	19178											
RAB22A	0	.	GRCh38	chr20	58353480	58353480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagagcttcgacagcatGgcccacctaatattgtagtt	12	11	9	9	1	0	2	0	1	0	1	1	3	0	2	2	1	2	4	2	1	4	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.319G>T	p.Gly107Cys	p.G107C	ENST00000244040	5/7	285	255	30	298	298	0	strelka-varscan-mutect	RAB22A,missense_variant,p.Gly107Cys,ENST00000244040,NM_020673.2;	T	ENST00000244040	Transcript	missense_variant	600/8670	319/585	107/194	G/C	Ggc/Tgc		1		1	RAB22A	HGNC	HGNC:9764	protein_coding	YES	CCDS33497.1	ENSP00000244040	Q9UL26		UPI0000132F68	NM_020673.2	deleterious(0.01)		5/7		PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF401,hmmpanther:PTHR24073,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	58353480	58353480	G	T	1	0	0	0	0	1	0	0	0	13067	1348	47	2		2	RAB22A	20	58353480	Missense_Mutation	SNP	G	C3N-00560_TP	743178	58353480	6090687	1240	19179											
APCDD1L	0	.	GRCh38	chr20	58461327	58461327	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acggtgaaggtgggctgccgGcaggctgggtctgagaagtg	7	7	20	7	2	1	2	0	2	1	1	1	3	1	2	1	6	1	3	1	6	2	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.969C>A	p.Cys323Ter	p.C323*	ENST00000371149	4/4	58	42	16	59	59	0	strelka-varscan-mutect	APCDD1L,stop_gained,p.Cys323Ter,ENST00000371149,NM_153360.2;APCDD1L,non_coding_transcript_exon_variant,,ENST00000491015,;	T	ENST00000371149	Transcript	stop_gained	1200/3426	969/1506	323/501	C/*	tgC/tgA		1		-1	APCDD1L	HGNC	HGNC:26892	protein_coding	YES	CCDS13467.1	ENSP00000360191	Q8NCL9		UPI000006F69F	NM_153360.2			4/4		Pfam_domain:PF14921,hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF3,SMART_domains:SM01352																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	58461327	58461327	G	T	1	0	0	0	0	0	1	0	0	886	1195	42	2		2	APCDD1L	20	58461327	Nonsense_Mutation	SNP	G	C3N-00560_TP	107847	58461327	5982840	1241	19180											
GNAS	0	.	GRCh38	chr20	58853776	58853776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtttgaccagcctgccCagagaggctgcagtcaactt	9	10	11	11	0	1	3	1	2	0	1	1	4	1	3	3	1	4	3	3	1	1	3	rs747313993		C3N-00560_TP	C3N-00560_NB	C	C																c.511C>A	p.Gln171Lys	p.Q171K	ENST00000371100	1/13	855	605	250	743	743	0	strelka-varscan-mutect	GNAS,missense_variant,p.Gln171Lys,ENST00000371100,NM_080425.2;GNAS,missense_variant,p.Gln171Lys,ENST00000371099,;GNAS,missense_variant,p.Gln171Lys,ENST00000371102,;GNAS,synonymous_variant,p.=,ENST00000306120,NM_001077490.1;GNAS,intron_variant,,ENST00000313949,;GNAS,intron_variant,,ENST00000371075,NM_016592.2;GNAS,intron_variant,,ENST00000371098,;GNAS,intron_variant,,ENST00000419558,;GNAS,intron_variant,,ENST00000453292,;GNAS,upstream_gene_variant,,ENST00000423897,;GNAS,upstream_gene_variant,,ENST00000450130,;GNAS,upstream_gene_variant,,ENST00000349036,;GNAS-AS1,upstream_gene_variant,,ENST00000424094,;GNAS-AS1,upstream_gene_variant,,ENST00000598163,;GNAS-AS1_5,downstream_gene_variant,,ENST00000614281,;GNAS-AS1_4,downstream_gene_variant,,ENST00000616546,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,intron_variant,,ENST00000491348,;GNAS,intron_variant,,ENST00000472183,;GNAS,intron_variant,,ENST00000493744,;GNAS,intron_variant,,ENST00000482112,;GNAS,intron_variant,,ENST00000490374,;GNAS,intron_variant,,ENST00000467227,;GNAS,intron_variant,,ENST00000462499,;GNAS,upstream_gene_variant,,ENST00000481768,;	A	ENST00000371100	Transcript	missense_variant	1063/4029	511/3114	171/1037	Q/K	Cag/Aag	rs747313993	1		1	GNAS	HGNC	HGNC:4392	protein_coding	YES	CCDS46622.1	ENSP00000360141	Q5JWF2		UPI0000E444AE	NM_080425.2	deleterious_low_confidence(0.03)		1/13																			MODERATE	1	SNV	5			1										PASS		rs747313993	.												A	3	1	57	58853776	58853776	C	A	1	0	0	0	0	1	0	0	0	6390	595	21	2		2	GNAS	20	58853776	Missense_Mutation	SNP	C	C3N-00560_TP	392449	58853776	5590391	1242	19181											
CDH4	0	.	GRCh38	chr20	61743570	61743570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcttgcagtcaagttCagcagctgtgtggggaccaa	8	10	11	12	0	3	0	2	0	1	0	4	1	4	1	3	2	3	4	3	2	2	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.177C>A	p.Phe59Leu	p.F59L	ENST00000614565	3/16	209	143	66	162	162	0	strelka-varscan-mutect	CDH4,missense_variant,p.Phe59Leu,ENST00000614565,NM_001794.4;CDH4,missense_variant,p.Phe19Leu,ENST00000611855,;CDH4,5_prime_UTR_variant,,ENST00000543233,NM_001252338.2,NM_001252339.2;RP11-429E11.2,intron_variant,,ENST00000447909,;RP11-429E11.2,intron_variant,,ENST00000442888,;	A	ENST00000614565	Transcript	missense_variant	265/6513	177/2751	59/916	F/L	ttC/ttA		1		1	CDH4	HGNC	HGNC:1763	protein_coding	YES	CCDS13488.1	ENSP00000484928	P55283		UPI000015FE86	NM_001794.4	deleterious(0.03)		3/16		hmmpanther:PTHR24027:SF81,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF08758,SMART_domains:SM01055,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	61743570	61743570	C	A	1	0	0	0	0	1	0	0	0	2815	825	29	2		2	CDH4	20	61743570	Missense_Mutation	SNP	C	C3N-00560_TP	2889794	61743570	2700597	1243	19182											
PRPF6	0	.	GRCh38	chr20	64027659	64027659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctctctcggctggaggaGaagattgggcagcttactcg	7	11	14	9	2	1	2	0	0	1	2	4	4	1	3	0	4	3	4	0	4	2	3			C3N-00560_TP	C3N-00560_NB	G	G																c.2262G>T	p.Glu754Asp	p.E754D	ENST00000266079	17/21	935	736	199	545	545	0	strelka-varscan-mutect	PRPF6,missense_variant,p.Glu754Asp,ENST00000266079,NM_012469.3;	T	ENST00000266079	Transcript	missense_variant	2373/3044	2262/2826	754/941	E/D	gaG/gaT	COSM1177800	1		1	PRPF6	HGNC	HGNC:15860	protein_coding	YES	CCDS13550.1	ENSP00000266079	O94906		UPI0000132356	NM_012469.3	deleterious(0.02)		17/21		Gene3D:1.25.40.10,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50293,hmmpanther:PTHR11246,SMART_domains:SM00028,SMART_domains:SM00386,Superfamily_domains:SSF48452											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	57	64027659	64027659	G	T	1	0	0	0	0	1	0	0	0	12710	933	33	2		2	PRPF6	20	64027659	Missense_Mutation	SNP	G	C3N-00560_TP	2284089	64027659	416508	1244	19183											
ADAMTS5	0	.	GRCh38	chr21	26934552	26934552	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcgtcccttccaccgcagGcagcttcttggtcagacaga	8	8	11	14	2	2	2	1	0	1	2	4	2	4	2	3	3	1	3	3	3	0	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1603C>A	p.Pro535Thr	p.P535T	ENST00000284987	4/8	418	346	72	482	482	0	strelka-varscan-mutect	ADAMTS5,missense_variant,p.Pro535Thr,ENST00000284987,NM_007038.3;AP001601.2,intron_variant,,ENST00000426771,;	T	ENST00000284987	Transcript	missense_variant	1725/9056	1603/2793	535/930	P/T	Cct/Act		1		-1	ADAMTS5	HGNC	HGNC:221	protein_coding	YES	CCDS13579.1	ENSP00000284987	Q9UNA0		UPI00001AEAC2	NM_007038.3	deleterious(0.01)		4/8		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF37,SMART_domains:SM00608																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	26934552	26934552	G	T	1	0	0	0	0	1	0	0	0	313	1203	42	2		2	ADAMTS5	21	26934552	Missense_Mutation	SNP	G	C3N-00560_TP		26934552	19775431	1245	19184											
ADAMTS5	0	.	GRCh38	chr21	26966323	26966323	+	Frame_Shift_Del	DEL	G	G	-																															ttatcctgggcaggtgtcgcGgcggggccgaccgcggccag																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.69delC	p.Ala24ArgfsTer142	p.A24Rfs*142	ENST00000284987	1/8	51	38	13	69	69	0	sindel-varindel-pindel	ADAMTS5,frameshift_variant,p.Ala24ArgfsTer142,ENST00000284987,NM_007038.3;	-	ENST00000284987	Transcript	frameshift_variant	191/9056	69/2793	23/930	A/X	gcC/gc		1		-1	ADAMTS5	HGNC	HGNC:221	protein_coding	YES	CCDS13579.1	ENSP00000284987	Q9UNA0		UPI00001AEAC2	NM_007038.3			1/8		Prints_domain:PR01860																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	57	26966323	26966323	G	-	1	0	1	0	1	0	0	0	0	313	1103	39	0		0	ADAMTS5	21	26966323	Frame_Shift_Del	DEL	G	C3N-00560_TP	31771	26966323	19743660	1246	19185											
CLDN17	0	.	GRCh38	chr21	30166236	30166236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaacgaagatgcccgtcaGgatgaagaggactcctgaag	14	5	13	9	2	1	5	1	2	0	3	2	8	2	7	2	2	2	0	2	2	4	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.382C>A	p.Leu128Met	p.L128M	ENST00000286808	1/1	216	163	53	265	265	0	strelka-varscan-mutect	CLDN17,missense_variant,p.Leu128Met,ENST00000286808,NM_012131.2;	T	ENST00000286808	Transcript	missense_variant	521/1193	382/675	128/224	L/M	Ctg/Atg		1		-1	CLDN17	HGNC	HGNC:2038	protein_coding	YES	CCDS13586.1	ENSP00000286808	P56750		UPI000004E655	NM_012131.2	tolerated(0.18)		1/1		Pfam_domain:PF00822,Prints_domain:PR01077,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF75,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	57	30166236	30166236	G	T	1	0	0	0	0	1	0	0	0	3242	991	35	2		2	CLDN17	21	30166236	Missense_Mutation	SNP	G	C3N-00560_TP	3199913	30166236	16543747	1247	19186											
TIAM1	0	.	GRCh38	chr21	31146938	31146938	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtggctggcgcagaaGgcactgtagagcttgaagcg	8	10	16	7	2	0	3	0	1	0	2	0	3	0	3	0	3	2	5	0	3	3	3	rs759007864		C3N-00560_TP	C3N-00560_NB	G	G																c.3432C>A	p.=	p.A1144A	ENST00000286827	21/29	281	231	50	330	330	0	strelka-varscan-mutect	TIAM1,synonymous_variant,p.=,ENST00000286827,NM_003253.2;TIAM1,synonymous_variant,p.=,ENST00000541036,;TIAM1,synonymous_variant,p.=,ENST00000636887,;	T	ENST00000286827	Transcript	synonymous_variant	3904/7200	3432/4776	1144/1591	A	gcC/gcA	rs759007864	1		-1	TIAM1	HGNC	HGNC:11805	protein_coding	YES	CCDS13609.1	ENSP00000286827	Q13009		UPI000013DE6F	NM_003253.2			21/29		PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF88,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065																	LOW	1	SNV	1			1										PASS		rs759007864	.												T	2	4	57	31146938	31146938	G	T	1	0	0	0	0	0	0	0	1	16324	987	35	2		2	TIAM1	21	31146938	Silent	SNP	G	C3N-00560_TP	980702	31146938	15563045	1248	19187											
SOD1	0	.	GRCh38	chr21	31659801	31659801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccgtgtgcgtgctgaaggGcgacggcccagtgcagggca	6	5	19	11	4	0	1	0	1	0	0	0	2	0	1	2	4	3	3	2	4	1	0			C3N-00560_TP	C3N-00560_NB	G	G																c.32G>A	p.Gly11Asp	p.G11D	ENST00000270142	1/5	281	221	60	299	299	0	strelka-varscan-mutect	SOD1,missense_variant,p.Gly11Asp,ENST00000270142,NM_000454.4;SOD1,intron_variant,,ENST00000389995,;AP000253.1,upstream_gene_variant,,ENST00000449339,;SNORA81,upstream_gene_variant,,ENST00000458922,;SOD1,non_coding_transcript_exon_variant,,ENST00000470944,;SOD1,non_coding_transcript_exon_variant,,ENST00000476106,;	A	ENST00000270142	Transcript	missense_variant	180/966	32/465	11/154	G/D	gGc/gAc	CP035469	1		1	SOD1	HGNC	HGNC:11179	protein_coding	YES	CCDS33536.1	ENSP00000270142	P00441	V9HWC9	UPI0000000C20	NM_000454.4	deleterious(0)		1/5		hmmpanther:PTHR10003,Gene3D:2.60.40.200,Superfamily_domains:SSF49329																	MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	57	31659801	31659801	G	A	1	0	0	0	0	1	0	0	0	15241	1203	42	3		3	SOD1	21	31659801	Missense_Mutation	SNP	G	C3N-00560_TP	512863	31659801	15050182	1249	19188											
TTC3	0	.	GRCh38	chr21	37153254	37153254	+	Missense_Mutation	SNP	G	G	T																															ggagcccaaattagccgcctGgatccaaaaacttaatagct																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2717G>T	p.Trp906Leu	p.W906L	ENST00000399017	27/46	60	47	13	96	96	0	strelka-varscan-mutect	TTC3,missense_variant,p.Trp906Leu,ENST00000399017,NM_003316.3;TTC3,missense_variant,p.Trp906Leu,ENST00000354749,;TTC3,missense_variant,p.Trp906Leu,ENST00000355666,NM_001001894.1;TTC3,missense_variant,p.Trp906Leu,ENST00000418766,;TTC3,missense_variant,p.Trp888Leu,ENST00000438055,;TTC3,missense_variant,p.Trp596Leu,ENST00000540756,;TTC3,missense_variant,p.Trp44Leu,ENST00000411496,;TTC3,missense_variant,p.Trp270Leu,ENST00000414818,;TTC3,downstream_gene_variant,,ENST00000450533,;TTC3,non_coding_transcript_exon_variant,,ENST00000479930,;TTC3,non_coding_transcript_exon_variant,,ENST00000485402,;TTC3,non_coding_transcript_exon_variant,,ENST00000487711,;TTC3,downstream_gene_variant,,ENST00000481605,;TTC3,non_coding_transcript_exon_variant,,ENST00000476784,;TTC3,upstream_gene_variant,,ENST00000472398,;	T	ENST00000399017	Transcript	missense_variant	5464/10363	2717/6078	906/2025	W/L	tGg/tTg		1		1	TTC3	HGNC	HGNC:12393	protein_coding	YES	CCDS13651.1	ENSP00000381981	P53804		UPI00001B043E	NM_003316.3	deleterious(0)		27/46		hmmpanther:PTHR17550,hmmpanther:PTHR17550:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	37153254	37153254	G	T	1	0	0	0	0	1	0	0	0	17206	1357	47	2		2	TTC3	21	37153254	Missense_Mutation	SNP	G	C3N-00560_TP	5493453	37153254	9556729	1250	19189	405	2									
TTC3	0	.	GRCh38	chr21	37153255	37153255	+	Missense_Mutation	SNP	G	G	T																															gagcccaaattagccgcctgGatccaaaaacttaatagctt																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2718G>T	p.Trp906Cys	p.W906C	ENST00000399017	27/46	55	42	13	91	91	0	strelka-varscan-mutect	TTC3,missense_variant,p.Trp906Cys,ENST00000399017,NM_003316.3;TTC3,missense_variant,p.Trp906Cys,ENST00000354749,;TTC3,missense_variant,p.Trp906Cys,ENST00000355666,NM_001001894.1;TTC3,missense_variant,p.Trp906Cys,ENST00000418766,;TTC3,missense_variant,p.Trp888Cys,ENST00000438055,;TTC3,missense_variant,p.Trp596Cys,ENST00000540756,;TTC3,missense_variant,p.Trp44Cys,ENST00000411496,;TTC3,missense_variant,p.Trp270Cys,ENST00000414818,;TTC3,downstream_gene_variant,,ENST00000450533,;TTC3,non_coding_transcript_exon_variant,,ENST00000479930,;TTC3,non_coding_transcript_exon_variant,,ENST00000485402,;TTC3,non_coding_transcript_exon_variant,,ENST00000487711,;TTC3,downstream_gene_variant,,ENST00000481605,;TTC3,non_coding_transcript_exon_variant,,ENST00000476784,;TTC3,upstream_gene_variant,,ENST00000472398,;	T	ENST00000399017	Transcript	missense_variant	5465/10363	2718/6078	906/2025	W/C	tgG/tgT		1		1	TTC3	HGNC	HGNC:12393	protein_coding	YES	CCDS13651.1	ENSP00000381981	P53804		UPI00001B043E	NM_003316.3	deleterious(0)		27/46		hmmpanther:PTHR17550,hmmpanther:PTHR17550:SF4																	MODERATE	1	SNV	1			1										PASS		rs1446069757	.												T	3	4	57	37153255	37153255	G	T	1	0	0	0	0	1	0	0	0	17206	1183	41	2		2	TTC3	21	37153255	Missense_Mutation	SNP	G	C3N-00560_TP	1	37153255	9556728	1251	19190	405	2									
TRPM2	0	.	GRCh38	chr21	44369265	44369265	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcctgagcagcagctaCaaggaaggcgagctcatcac	12	6	11	12	1	3	1	3	1	0	0	3	3	3	2	1	2	6	4	1	2	3	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.693C>T	p.=	p.Y231Y	ENST00000397928	5/32	93	75	18	102	102	0	strelka-varscan-mutect	TRPM2,synonymous_variant,p.=,ENST00000397928,NM_003307.3;TRPM2,synonymous_variant,p.=,ENST00000300482,;TRPM2,synonymous_variant,p.=,ENST00000300481,;TRPM2,synonymous_variant,p.=,ENST00000397932,;TRPM2,downstream_gene_variant,,ENST00000431901,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;	T	ENST00000397928	Transcript	synonymous_variant	1138/6221	693/4512	231/1503	Y	taC/taT		1		1	TRPM2	HGNC	HGNC:12339	protein_coding	YES	CCDS13710.1	ENSP00000381023	O94759		UPI0000169D60	NM_003307.3			5/32		hmmpanther:PTHR13800:SF2,hmmpanther:PTHR13800,Gene3D:3.40.50.450																	LOW	1	SNV	1			1										PASS		rs1183340309	.												T	2	4	57	44369265	44369265	C	T	1	0	0	0	0	0	0	0	1	17092	489	17	3		3	TRPM2	21	44369265	Silent	SNP	C	C3N-00560_TP	7216010	44369265	2340718	1252	19191											
KRTAP10-8	0	.	GRCh38	chr21	44612771	44612771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcctgcctgctgtgtgcCtgtcccctcctgttgtgtcc	0	13	11	17	1	0	0	0	0	0	0	3	0	3	0	8	1	3	2	8	1	0	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.671C>G	p.Pro224Arg	p.P224R	ENST00000334662	1/1	419	329	90	488	488	0	strelka-varscan-mutect	KRTAP10-8,missense_variant,p.Pro224Arg,ENST00000334662,NM_198695.2;KRTAP10-7,missense_variant,p.Pro210Arg,ENST00000616689,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;	G	ENST00000334662	Transcript	missense_variant	693/876	671/780	224/259	P/R	cCt/cGt		1		1	KRTAP10-8	HGNC	HGNC:20525	protein_coding	YES	CCDS13713.1	ENSP00000335565	P60410		UPI000036709C	NM_198695.2	deleterious(0)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF74,hmmpanther:PTHR23262																	MODERATE		SNV				1										PASS		.	.												G	3	3	57	44612771	44612771	C	G	1	0	0	0	0	1	0	0	0	8398	681	24	4		4	KRTAP10-8	21	44612771	Missense_Mutation	SNP	C	C3N-00560_TP	243506	44612771	2097212	1253	19192											
ITGB2	0	.	GRCh38	chr21	44901501	44901501	+	Silent	SNP	G	G	T																															agcggcctcaccgggcaggcGgcgacctgcatcatggcgtc																								rs146557638		C3N-00560_TP	C3N-00560_NB	G	G																c.732C>A	p.=	p.A244A	ENST00000397850	7/17	133	109	24	191	191	0	strelka-varscan-mutect	ITGB2,synonymous_variant,p.=,ENST00000397850,;ITGB2,synonymous_variant,p.=,ENST00000302347,NM_001303238.1,NM_000211.4;ITGB2,synonymous_variant,p.=,ENST00000355153,NM_001127491.2;ITGB2,synonymous_variant,p.=,ENST00000397857,;ITGB2,synonymous_variant,p.=,ENST00000397852,;ITGB2,synonymous_variant,p.=,ENST00000397854,;ITGB2,synonymous_variant,p.=,ENST00000320216,;ITGB2,downstream_gene_variant,,ENST00000523663,;ITGB2,downstream_gene_variant,,ENST00000522688,;ITGB2,downstream_gene_variant,,ENST00000522931,;ITGB2,downstream_gene_variant,,ENST00000517563,;ITGB2,downstream_gene_variant,,ENST00000521987,;ITGB2,3_prime_UTR_variant,,ENST00000523323,;ITGB2,non_coding_transcript_exon_variant,,ENST00000498666,;ITGB2,downstream_gene_variant,,ENST00000520389,;	T	ENST00000397850	Transcript	synonymous_variant	1185/3178	732/2310	244/769	A	gcC/gcA	rs146557638,COSM4102023	1		-1	ITGB2	HGNC	HGNC:6155	protein_coding	YES	CCDS13716.1	ENSP00000380948	P05107		UPI0000000C70				7/17		Gene3D:3.40.50.410,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,Prints_domain:PR01186,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF15,SMART_domains:SM00187,Superfamily_domains:SSF53300											0,1						LOW	1	SNV	5		0,1	1										PASS		rs146557638	.												T	2	4	57	44901501	44901501	G	T	1	0	0	0	0	0	0	0	1	7800	1103	39	1		1	ITGB2	21	44901501	Silent	SNP	G	C3N-00560_TP	288730	44901501	1808482	1254	19193	406	2									
ITGB2	0	.	GRCh38	chr21	44901502	44901502	+	Missense_Mutation	SNP	G	G	T																															gcggcctcaccgggcaggcgGcgacctgcatcatggcgtcc																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.731C>A	p.Ala244Asp	p.A244D	ENST00000397850	7/17	132	108	24	193	193	0	strelka-varscan-mutect	ITGB2,missense_variant,p.Ala244Asp,ENST00000397850,;ITGB2,missense_variant,p.Ala244Asp,ENST00000302347,NM_001303238.1,NM_000211.4;ITGB2,missense_variant,p.Ala244Asp,ENST00000355153,NM_001127491.2;ITGB2,missense_variant,p.Ala244Asp,ENST00000397857,;ITGB2,missense_variant,p.Ala244Asp,ENST00000397852,;ITGB2,missense_variant,p.Ala187Asp,ENST00000397854,;ITGB2,missense_variant,p.Ala235Asp,ENST00000320216,;ITGB2,downstream_gene_variant,,ENST00000523663,;ITGB2,downstream_gene_variant,,ENST00000522688,;ITGB2,downstream_gene_variant,,ENST00000522931,;ITGB2,downstream_gene_variant,,ENST00000517563,;ITGB2,downstream_gene_variant,,ENST00000521987,;ITGB2,3_prime_UTR_variant,,ENST00000523323,;ITGB2,non_coding_transcript_exon_variant,,ENST00000498666,;ITGB2,downstream_gene_variant,,ENST00000520389,;	T	ENST00000397850	Transcript	missense_variant	1184/3178	731/2310	244/769	A/D	gCc/gAc		1		-1	ITGB2	HGNC	HGNC:6155	protein_coding	YES	CCDS13716.1	ENSP00000380948	P05107		UPI0000000C70		deleterious(0)		7/17		Gene3D:3.40.50.410,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,Prints_domain:PR01186,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF15,SMART_domains:SM00187,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	44901502	44901502	G	T	1	0	0	0	0	1	0	0	0	7800	1203	42	2		2	ITGB2	21	44901502	Missense_Mutation	SNP	G	C3N-00560_TP	1	44901502	1808481	1255	19194	406	2									
COL18A1	0	.	GRCh38	chr21	45475532	45475532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagcttctcagggaggaGacggtgagtagccggacggg	8	5	20	8	4	1	2	1	1	1	1	2	6	1	5	1	6	2	2	1	6	1	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2040G>T	p.Glu680Asp	p.E680D	ENST00000359759	4/41	141	111	30	178	178	0	strelka-varscan-mutect	COL18A1,missense_variant,p.Glu680Asp,ENST00000359759,NM_130444.2;COL18A1,missense_variant,p.Glu445Asp,ENST00000355480,NM_030582.3;COL18A1,missense_variant,p.Glu265Asp,ENST00000400337,NM_130445.3;MIR6815,upstream_gene_variant,,ENST00000611994,;	T	ENST00000359759	Transcript	missense_variant	2040/6586	2040/5265	680/1754	E/D	gaG/gaT		1		1	COL18A1	HGNC	HGNC:2195	protein_coding	YES	CCDS77643.1	ENSP00000352798	P39060		UPI0001838820	NM_130444.2	tolerated(0.51)		4/41																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	57	45475532	45475532	G	T	1	0	0	0	0	1	0	0	0	3463	956	33	2		2	COL18A1	21	45475532	Missense_Mutation	SNP	G	C3N-00560_TP	574030	45475532	1234451	1256	19195											
RIMBP3	0	.	GRCh38	chr22	18608275	18608275	+	Missense_Mutation	SNP	C	C	A																															cagccgcacctccacccgcgCccggtagtgcgtgccggggc																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3160G>T	p.Ala1054Ser	p.A1054S	ENST00000619918	1/1	1037	785	252	843	843	0	strelka-varscan-mutect	RIMBP3,missense_variant,p.Ala1054Ser,ENST00000619918,NM_015672.1;SCARNA17,downstream_gene_variant,,ENST00000614296,;RN7SKP131,upstream_gene_variant,,ENST00000410698,;	A	ENST00000619918	Transcript	missense_variant	3645/6105	3160/4920	1054/1639	A/S	Gcg/Tcg		1		-1	RIMBP3	HGNC	HGNC:29344	protein_coding	YES	CCDS46665.1	ENSP00000483386	Q9UFD9		UPI0000237729	NM_015672.1	deleterious(0.01)		1/1		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF21,Superfamily_domains:SSF49265																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	57	18608275	18608275	C	A	1	0	0	0	0	1	0	0	0	13539	739	26	2		2	RIMBP3	22	18608275	Missense_Mutation	SNP	C	C3N-00560_TP		18608275	32210193	1257	19196	407	2									
RIMBP3	0	.	GRCh38	chr22	18608276	18608276	+	Silent	SNP	C	C	A																															agccgcacctccacccgcgcCcggtagtgcgtgccggggca																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3159G>T	p.=	p.R1053R	ENST00000619918	1/1	1035	782	253	837	837	0	strelka-varscan-mutect	RIMBP3,synonymous_variant,p.=,ENST00000619918,NM_015672.1;SCARNA17,downstream_gene_variant,,ENST00000614296,;RN7SKP131,upstream_gene_variant,,ENST00000410698,;	A	ENST00000619918	Transcript	synonymous_variant	3644/6105	3159/4920	1053/1639	R	cgG/cgT		1		-1	RIMBP3	HGNC	HGNC:29344	protein_coding	YES	CCDS46665.1	ENSP00000483386	Q9UFD9		UPI0000237729	NM_015672.1			1/1		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF21,Superfamily_domains:SSF49265																	LOW	1	SNV				1										PASS		rs1161553430	.												A	2	1	57	18608276	18608276	C	A	1	0	0	0	0	0	0	0	1	13539	610	22	2		2	RIMBP3	22	18608276	Silent	SNP	C	C3N-00560_TP	1	18608276	32210192	1258	19197	407	2									
AIFM3	0	.	GRCh38	chr22	20973428	20973428	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggcccgccacttccacacGgaggagcgcctgtccacccc	7	4	10	20	4	0	0	0	0	0	0	2	2	2	2	7	3	1	0	7	3	0	1	rs748543747		C3N-00560_TP	C3N-00560_NB	G	G																c.153G>T	p.=	p.T51T	ENST00000399167	3/21	380	258	122	319	319	0	strelka-varscan-mutect	AIFM3,synonymous_variant,p.=,ENST00000399167,NM_144704.2;AIFM3,synonymous_variant,p.=,ENST00000440238,;AIFM3,synonymous_variant,p.=,ENST00000405089,NM_001146288.1;AIFM3,synonymous_variant,p.=,ENST00000399163,NM_001018060.2;AIFM3,synonymous_variant,p.=,ENST00000434714,;AIFM3,synonymous_variant,p.=,ENST00000441376,;AIFM3,non_coding_transcript_exon_variant,,ENST00000468124,;AIFM3,non_coding_transcript_exon_variant,,ENST00000496097,;AIFM3,upstream_gene_variant,,ENST00000465606,;AIFM3,upstream_gene_variant,,ENST00000483107,;AIFM3,missense_variant,p.Arg30Leu,ENST00000426113,;AIFM3,synonymous_variant,p.=,ENST00000417515,;AIFM3,non_coding_transcript_exon_variant,,ENST00000484206,;AIFM3,non_coding_transcript_exon_variant,,ENST00000472575,;AIFM3,non_coding_transcript_exon_variant,,ENST00000467926,;AIFM3,upstream_gene_variant,,ENST00000486003,;	T	ENST00000399167	Transcript	synonymous_variant	393/2387	153/1818	51/605	T	acG/acT	rs748543747	1		1	AIFM3	HGNC	HGNC:26398	protein_coding	YES	CCDS13786.1	ENSP00000382120	Q96NN9		UPI0000071A61	NM_144704.2			3/21																			LOW	1	SNV	2			1										PASS		rs748543747	.												T	2	4	57	20973428	20973428	G	T	1	0	0	0	0	0	0	0	1	505	1103	39	1		1	AIFM3	22	20973428	Silent	SNP	G	C3N-00560_TP	2365152	20973428	29845040	1259	19198											
PRAME	0	.	GRCh38	chr22	22548116	22548116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggctccgggtcatagaagGttctgtccccacagtgagga	8	9	14	10	1	2	2	1	1	1	1	4	3	4	3	3	4	0	2	3	4	2	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1481C>A	p.Thr494Asn	p.T494N	ENST00000543184	5/5	154	106	48	186	186	0	strelka-varscan-mutect	PRAME,missense_variant,p.Thr494Asn,ENST00000543184,NM_206953.2;PRAME,missense_variant,p.Thr494Asn,ENST00000398741,NM_206955.2;PRAME,missense_variant,p.Thr494Asn,ENST00000398743,NM_206954.2,NM_001291715.1,NM_006115.4;PRAME,missense_variant,p.Thr494Asn,ENST00000405655,NM_206956.2,NM_001291716.1;PRAME,missense_variant,p.Thr494Asn,ENST00000402697,;PRAME,downstream_gene_variant,,ENST00000439106,;PRAME,downstream_gene_variant,,ENST00000406503,;PRAME,downstream_gene_variant,,ENST00000420709,;PRAME,downstream_gene_variant,,ENST00000403441,;PRAME,downstream_gene_variant,,ENST00000438888,;PRAME,downstream_gene_variant,,ENST00000485532,;PRAME,downstream_gene_variant,,ENST00000476336,;PRAME,non_coding_transcript_exon_variant,,ENST00000492657,;PRAME,downstream_gene_variant,,ENST00000442481,;	T	ENST00000543184	Transcript	missense_variant	2344/2758	1481/1530	494/509	T/N	aCc/aAc		1		-1	PRAME	HGNC	HGNC:9336	protein_coding	YES	CCDS13801.1	ENSP00000445675	P78395	A0A024R1E6	UPI0000000DDA	NM_206953.2	tolerated(0.07)		5/5		hmmpanther:PTHR14224:SF4,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	22548116	22548116	G	T	1	0	0	0	0	1	0	0	0	12553	1261	44	2		2	PRAME	22	22548116	Missense_Mutation	SNP	G	C3N-00560_TP	1574688	22548116	28270352	1260	19199											
PRAME	0	.	GRCh38	chr22	22549823	22549823	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgagaggtgaactgggCgatatactgctcttccttct	9	12	11	9	1	2	2	0	2	2	1	3	5	3	2	1	2	4	1	1	2	4	4	rs752912693		C3N-00560_TP	C3N-00560_NB	C	C																c.856G>C	p.Ala286Pro	p.A286P	ENST00000543184	4/5	232	159	73	232	232	0	strelka-varscan-mutect	PRAME,missense_variant,p.Ala286Pro,ENST00000543184,NM_206953.2;PRAME,missense_variant,p.Ala286Pro,ENST00000398741,NM_206955.2;PRAME,missense_variant,p.Ala286Pro,ENST00000398743,NM_206954.2,NM_001291715.1,NM_006115.4;PRAME,missense_variant,p.Ala286Pro,ENST00000405655,NM_206956.2,NM_001291716.1;PRAME,missense_variant,p.Ala286Pro,ENST00000402697,;PRAME,downstream_gene_variant,,ENST00000439106,;PRAME,downstream_gene_variant,,ENST00000406503,;PRAME,downstream_gene_variant,,ENST00000420709,;PRAME,downstream_gene_variant,,ENST00000403441,;PRAME,downstream_gene_variant,,ENST00000438888,;PRAME,downstream_gene_variant,,ENST00000485532,;PRAME,downstream_gene_variant,,ENST00000476336,;PRAME,non_coding_transcript_exon_variant,,ENST00000492657,;PRAME,downstream_gene_variant,,ENST00000442481,;	G	ENST00000543184	Transcript	missense_variant	1719/2758	856/1530	286/509	A/P	Gcc/Ccc	rs752912693,COSM3424061,COSM5679056	1		-1	PRAME	HGNC	HGNC:9336	protein_coding	YES	CCDS13801.1	ENSP00000445675	P78395	A0A024R1E6	UPI0000000DDA	NM_206953.2	tolerated(0.21)		4/5		hmmpanther:PTHR14224:SF4,hmmpanther:PTHR14224,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs752912693	.												G	3	3	57	22549823	22549823	C	G	1	0	0	0	0	1	0	0	0	12553	768	27	4		4	PRAME	22	22549823	Missense_Mutation	SNP	C	C3N-00560_TP	1707	22549823	28268645	1261	19200											
SGSM1	0	.	GRCh38	chr22	24874432	24874432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagttgcccccgacttcttgGgcagcacttcctccgtctct	5	12	8	16	2	2	0	0	0	2	0	5	1	4	0	4	1	2	3	4	1	1	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1309G>A	p.Gly437Ser	p.G437S	ENST00000400359	13/26	122	77	45	99	99	0	strelka-varscan-mutect	SGSM1,missense_variant,p.Gly437Ser,ENST00000610372,NM_133454.3,NM_001098498.2;SGSM1,missense_variant,p.Gly437Ser,ENST00000400359,NM_001039948.3;SGSM1,intron_variant,,ENST00000400358,NM_001098497.2;SGSM1,intron_variant,,ENST00000473458,;SGSM1,intron_variant,,ENST00000480523,;	A	ENST00000400359	Transcript	missense_variant	1316/4317	1309/3447	437/1148	G/S	Ggc/Agc		1		1	SGSM1	HGNC	HGNC:29410	protein_coding	YES	CCDS46674.1	ENSP00000383212	Q2NKQ1		UPI00006EB130	NM_001039948.3	tolerated(0.72)		13/26		hmmpanther:PTHR22957:SF187,hmmpanther:PTHR22957																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	57	24874432	24874432	G	A	1	0	0	0	0	1	0	0	0	14480	1232	43	3		3	SGSM1	22	24874432	Missense_Mutation	SNP	G	C3N-00560_TP	2324609	24874432	25944036	1262	19201											
MYO18B	0	.	GRCh38	chr22	25908353	25908353	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagctggagatcgagcGgatgaagcagatgcaccaga	12	7	15	7	2	0	5	0	2	0	3	1	8	0	6	1	2	4	4	1	2	1	1	rs201899118		C3N-00560_TP	C3N-00560_NB	G	G																c.5180G>T	p.Arg1727Leu	p.R1727L	ENST00000335473	32/44	277	221	56	156	156	0	strelka-varscan-mutect	MYO18B,missense_variant,p.Arg1727Leu,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,missense_variant,p.Arg1728Leu,ENST00000407587,;MYO18B,missense_variant,p.Arg1727Leu,ENST00000536101,;MYO18B,downstream_gene_variant,,ENST00000536204,;MYO18B,downstream_gene_variant,,ENST00000534908,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	T	ENST00000335473	Transcript	missense_variant	5430/8565	5180/7704	1727/2567	R/L	cGg/cTg	rs201899118,COSM2935266	1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5	deleterious(0)		32/44		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF372											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201899118	.												T	3	4	57	25908353	25908353	G	T	1	0	0	0	0	1	0	0	0	10067	1116	39	1		1	MYO18B	22	25908353	Missense_Mutation	SNP	G	C3N-00560_TP	1033921	25908353	24910115	1263	19202											
GAS2L1	0	.	GRCh38	chr22	29311937	29311937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagccccagtccagagttgGgcaccacaccggccagcatc	9	4	10	18	1	0	1	0	0	0	1	2	1	1	1	7	2	2	3	7	2	0	1	rs747846620		C3N-00560_TP	C3N-00560_NB	G	G																c.1486G>T	p.Gly496Cys	p.G496C	ENST00000618518	5/5	438	289	149	323	322	1	strelka-varscan-mutect	GAS2L1,missense_variant,p.Gly496Cys,ENST00000618518,;GAS2L1,missense_variant,p.Gly496Cys,ENST00000616432,;GAS2L1,missense_variant,p.Gly496Cys,ENST00000621062,NM_006478.4;GAS2L1,missense_variant,p.Gly496Cys,ENST00000611648,NM_152236.2;GAS2L1,3_prime_UTR_variant,,ENST00000610653,;GAS2L1,intron_variant,,ENST00000406549,NM_001278730.1;RASL10A,downstream_gene_variant,,ENST00000401450,;RASL10A,downstream_gene_variant,,ENST00000216101,NM_006477.4;GAS2L1,downstream_gene_variant,,ENST00000416823,;GAS2L1,downstream_gene_variant,,ENST00000428622,;AC002059.10,downstream_gene_variant,,ENST00000608014,;RASL10A,downstream_gene_variant,,ENST00000608559,;RASL10A,downstream_gene_variant,,ENST00000474590,;GAS2L1,downstream_gene_variant,,ENST00000491016,;GAS2L1,downstream_gene_variant,,ENST00000487341,;	T	ENST00000618518	Transcript	missense_variant	2534/3382	1486/2046	496/681	G/C	Ggc/Tgc	rs747846620	1		1	GAS2L1	HGNC	HGNC:16955	protein_coding	YES	CCDS74840.1	ENSP00000481012		A0A5E8	UPI0000073BD7		deleterious(0.01)		5/5		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF296																	MODERATE		SNV	2			1										PASS		rs747846620	.												T	3	4	57	29311937	29311937	G	T	1	0	0	0	0	1	0	0	0	6116	1232	43	2		2	GAS2L1	22	29311937	Missense_Mutation	SNP	G	C3N-00560_TP	3403584	29311937	21506531	1264	19203											
SEC14L3	0	.	GRCh38	chr22	30461347	30461347	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgaggttcccatcctcGggcaccatgtgggcgttata	7	10	13	11	2	0	1	0	1	0	0	3	1	2	1	3	4	0	3	3	4	2	3	rs369303021		C3N-00560_TP	C3N-00560_NB	G	G																c.1044C>A	p.=	p.P348P	ENST00000215812	11/12	79	65	14	62	62	0	strelka-varscan-mutect	SEC14L3,synonymous_variant,p.=,ENST00000403066,;SEC14L3,synonymous_variant,p.=,ENST00000540910,;SEC14L3,synonymous_variant,p.=,ENST00000215812,NM_174975.4;SEC14L3,synonymous_variant,p.=,ENST00000402286,NM_001257378.1;SEC14L3,synonymous_variant,p.=,ENST00000401751,NM_001257379.1,NM_001257382.1;SEC14L3,downstream_gene_variant,,ENST00000435069,;SEC14L3,3_prime_UTR_variant,,ENST00000434642,;	T	ENST00000215812	Transcript	synonymous_variant	1135/2086	1044/1203	348/400	P	ccC/ccA	rs369303021	1		-1	SEC14L3	HGNC	HGNC:18655	protein_coding	YES	CCDS13877.1	ENSP00000215812	Q9UDX4		UPI000000D83C	NM_174975.4			11/12		PROSITE_profiles:PS50866,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF62,Superfamily_domains:0041713																	LOW	1	SNV	1			1										PASS		rs369303021	.												T	2	4	57	30461347	30461347	G	T	1	0	0	0	0	0	0	0	1	14259	1103	39	1		1	SEC14L3	22	30461347	Silent	SNP	G	C3N-00560_TP	1149410	30461347	20357121	1265	19204											
GAL3ST1	0	.	GRCh38	chr22	30556039	30556039	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagccgttggcccggatCactgcctctggctcgagtgc	4	8	14	15	4	2	0	1	0	1	0	3	3	2	1	4	3	3	2	4	3	0	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.186G>T	p.=	p.V62V	ENST00000402321	3/3	159	113	46	128	128	0	strelka-varscan-mutect	GAL3ST1,synonymous_variant,p.=,ENST00000402321,;GAL3ST1,synonymous_variant,p.=,ENST00000406361,NM_001318104.1,NM_001318113.1;GAL3ST1,synonymous_variant,p.=,ENST00000401975,NM_001318110.1,NM_001318115.1,NM_004861.1;GAL3ST1,synonymous_variant,p.=,ENST00000338911,;GAL3ST1,synonymous_variant,p.=,ENST00000402369,NM_001318103.1,NM_001318109.1;GAL3ST1,synonymous_variant,p.=,ENST00000406955,NM_001318112.1,NM_001318114.1;GAL3ST1,synonymous_variant,p.=,ENST00000441967,;GAL3ST1,synonymous_variant,p.=,ENST00000452827,;GAL3ST1,synonymous_variant,p.=,ENST00000431313,;GAL3ST1,synonymous_variant,p.=,ENST00000437282,;GAL3ST1,synonymous_variant,p.=,ENST00000423299,;GAL3ST1,synonymous_variant,p.=,ENST00000423371,;GAL3ST1,synonymous_variant,p.=,ENST00000453479,;GAL3ST1,synonymous_variant,p.=,ENST00000443136,;GAL3ST1,synonymous_variant,p.=,ENST00000416358,;GAL3ST1,synonymous_variant,p.=,ENST00000448604,;GAL3ST1,synonymous_variant,p.=,ENST00000411821,;GAL3ST1,synonymous_variant,p.=,ENST00000445645,;GAL3ST1,synonymous_variant,p.=,ENST00000447224,;GAL3ST1,synonymous_variant,p.=,ENST00000426220,;GAL3ST1,synonymous_variant,p.=,ENST00000428682,;GAL3ST1,synonymous_variant,p.=,ENST00000427899,;	A	ENST00000402321	Transcript	synonymous_variant	504/1908	186/1272	62/423	V	gtG/gtT		1		-1	GAL3ST1	HGNC	HGNC:24240	protein_coding	YES	CCDS13879.1	ENSP00000385735	Q99999	A0A024R1D7	UPI00001285C2				3/3		Pfam_domain:PF06990,hmmpanther:PTHR14647,hmmpanther:PTHR14647:SF56																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	57	30556039	30556039	C	A	1	0	0	0	0	0	0	0	1	6065	813	29	2		2	GAL3ST1	22	30556039	Silent	SNP	C	C3N-00560_TP	94692	30556039	20262429	1266	19205											
SFI1	0	.	GRCh38	chr22	31606415	31606415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaagtactcattacagaagGaccatatgttccaaggtgag	14	9	10	8	0	1	2	1	1	0	1	2	3	2	3	2	2	2	3	2	2	6	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.2142G>T	p.Arg714Ser	p.R714S	ENST00000400288	21/33	169	125	44	124	124	0	strelka-varscan-mutect	SFI1,missense_variant,p.Arg659Ser,ENST00000540643,NM_001258325.1;SFI1,missense_variant,p.Arg683Ser,ENST00000432498,NM_014775.3;SFI1,missense_variant,p.Arg714Ser,ENST00000400288,NM_001007467.2;SFI1,missense_variant,p.Arg632Ser,ENST00000400289,NM_001258326.1,NM_001258327.1;SFI1,missense_variant,p.Arg561Ser,ENST00000443011,;SFI1,missense_variant,p.Arg297Ser,ENST00000417682,;SFI1,non_coding_transcript_exon_variant,,ENST00000466991,;SFI1,3_prime_UTR_variant,,ENST00000524296,;SFI1,non_coding_transcript_exon_variant,,ENST00000382162,;SFI1,non_coding_transcript_exon_variant,,ENST00000488883,;SFI1,intron_variant,,ENST00000452250,;SFI1,upstream_gene_variant,,ENST00000491973,;	T	ENST00000400288	Transcript	missense_variant	2247/4002	2142/3729	714/1242	R/S	agG/agT		1		1	SFI1	HGNC	HGNC:29064	protein_coding	YES	CCDS43004.1	ENSP00000383145	A8K8P3		UPI00004703B1	NM_001007467.2	deleterious(0)		21/33		hmmpanther:PTHR22028,hmmpanther:PTHR22028:SF4																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	31606415	31606415	G	T	1	0	0	0	0	1	0	0	0	14434	1165	41	2		2	SFI1	22	31606415	Missense_Mutation	SNP	G	C3N-00560_TP	1050376	31606415	19212053	1267	19206											
RFPL2	0	.	GRCh38	chr22	32191176	32191176	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgcttgttcccacgtccaCctcccagcagtggcggccac	5	9	10	17	2	0	0	0	0	0	0	3	0	3	0	5	2	2	3	5	2	0	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.733G>T	p.Val245Leu	p.V245L	ENST00000400237	5/5	278	135	143	323	323	0	strelka-varscan-mutect	RFPL2,missense_variant,p.Val245Leu,ENST00000400237,NM_001098527.2;RFPL2,missense_variant,p.Val184Leu,ENST00000248980,NM_001159545.1,NM_006605.3,NM_001159546.1;RFPL2,missense_variant,p.Val245Leu,ENST00000248983,;AL008723.1,missense_variant,p.His25Gln,ENST00000623133,;RFPL3-AS1_1,upstream_gene_variant,,ENST00000618747,;RFPL2,non_coding_transcript_exon_variant,,ENST00000489846,;RFPL2,3_prime_UTR_variant,,ENST00000626996,;RFPL2,3_prime_UTR_variant,,ENST00000628378,;	A	ENST00000400237	Transcript	missense_variant	1669/2407	733/1137	245/378	V/L	Gtg/Ttg		1		-1	RFPL2	HGNC	HGNC:9979	protein_coding	YES	CCDS43009.2	ENSP00000383096	O75678		UPI000013CC66	NM_001098527.2	deleterious(0.02)		5/5		Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF225,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	32191176	32191176	C	A	1	0	0	0	0	1	0	0	0	13425	507	18	2		2	RFPL2	22	32191176	Missense_Mutation	SNP	C	C3N-00560_TP	584761	32191176	18627292	1268	19207											
APOL6	0	.	GRCh38	chr22	35659369	35659369	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcaaggacaaagtttgcgGaagagttgagagccaaggcc	14	5	15	7	1	0	2	0	1	0	2	0	6	0	4	2	3	3	3	2	3	4	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.805G>T	p.Glu269Ter	p.E269*	ENST00000409652	3/3	201	118	83	272	272	0	strelka-varscan-mutect	APOL6,stop_gained,p.Glu269Ter,ENST00000409652,NM_030641.3;	T	ENST00000409652	Transcript	stop_gained	1081/10121	805/1032	269/343	E/*	Gaa/Taa		1		1	APOL6	HGNC	HGNC:14870	protein_coding	YES	CCDS13919.1	ENSP00000386280	Q9BWW8	B3KTP4	UPI000000DC62	NM_030641.3			3/3		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05461,hmmpanther:PTHR14096,hmmpanther:PTHR14096:SF7,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	57	35659369	35659369	G	T	1	0	0	0	0	0	1	0	0	932	1175	41	2		2	APOL6	22	35659369	Nonsense_Mutation	SNP	G	C3N-00560_TP	3468193	35659369	15159099	1269	19208											
CACNG2	0	.	GRCh38	chr22	36702561	36702561	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagcatttgaacacctcGatcaaacagccccataattc	16	9	4	12	1	1	1	1	1	0	0	3	2	1	1	3	0	4	1	3	0	5	4			C3N-00560_TP	C3N-00560_NB	G	G																c.16C>A	p.=	p.R6R	ENST00000300105	1/4	246	151	95	315	314	1	strelka-varscan-mutect	CACNG2,synonymous_variant,p.=,ENST00000300105,NM_006078.3;RP1-293L6.1,upstream_gene_variant,,ENST00000430281,;	T	ENST00000300105	Transcript	synonymous_variant	998/2384	16/972	6/323	R	Cga/Aga	COSM259914	1		-1	CACNG2	HGNC	HGNC:1406	protein_coding	YES	CCDS13931.1	ENSP00000300105	Q9Y698		UPI00001272AC	NM_006078.3			1/4		hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF1											1						LOW	1	SNV	1		1	1										PASS		rs1327899143	.												T	2	4	57	36702561	36702561	G	T	1	0	0	0	0	0	0	0	1	2245	1066	37	1		1	CACNG2	22	36702561	Silent	SNP	G	C3N-00560_TP	1043192	36702561	14115907	1270	19209											
NCF4	0	.	GRCh38	chr22	36870438	36870438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgctcagcctgccggtctgGgtgctgatggatgaggacgt	5	10	16	10	2	2	2	1	2	1	0	2	4	2	4	2	4	4	2	2	4	0	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.366G>T	p.Trp122Cys	p.W122C	ENST00000397147	5/9	442	267	175	551	551	0	strelka-varscan-mutect	NCF4,missense_variant,p.Trp122Cys,ENST00000397147,NM_013416.3;NCF4,missense_variant,p.Trp122Cys,ENST00000248899,NM_000631.4;NCF4,missense_variant,p.Trp19Cys,ENST00000447071,;CTA-833B7.2,non_coding_transcript_exon_variant,,ENST00000619915,;CTA-833B7.2,upstream_gene_variant,,ENST00000431290,;NCF4,upstream_gene_variant,,ENST00000415063,;	T	ENST00000397147	Transcript	missense_variant	550/1641	366/1047	122/348	W/C	tgG/tgT		1		1	NCF4	HGNC	HGNC:7662	protein_coding	YES	CCDS13935.1	ENSP00000380334	Q15080		UPI000013CC59	NM_013416.3	tolerated(0.09)		5/9		PROSITE_profiles:PS50195,hmmpanther:PTHR10663:SF209,hmmpanther:PTHR10663,Gene3D:3.30.1520.10,Pfam_domain:PF00787,SMART_domains:SM00312,Superfamily_domains:SSF64268																	MODERATE	1	SNV	1			1										PASS		rs1219261355	.												T	3	4	57	36870438	36870438	G	T	1	0	0	0	0	1	0	0	0	10236	1241	43	2		2	NCF4	22	36870438	Missense_Mutation	SNP	G	C3N-00560_TP	167877	36870438	13948030	1271	19210											
SSTR3	0	.	GRCh38	chr22	37207021	37207021	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacgaagagcgccaccacGgccaccaccatgcgcgtgac	11	2	11	17	5	0	2	0	1	0	1	0	3	0	2	5	1	3	1	5	1	1	0	rs144127697		C3N-00560_TP	C3N-00560_NB	G	G																c.783C>A	p.=	p.A261A	ENST00000610913	2/2	260	126	134	303	303	0	strelka-varscan-mutect	SSTR3,synonymous_variant,p.=,ENST00000610913,NM_001051.4;SSTR3,synonymous_variant,p.=,ENST00000617123,NM_001278687.2;	T	ENST00000610913	Transcript	synonymous_variant	1317/4100	783/1257	261/418	A	gcC/gcA	rs144127697	1		-1	SSTR3	HGNC	HGNC:11332	protein_coding	YES	CCDS13944.1	ENSP00000480971	P32745		UPI0000050435	NM_001051.4			2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF42,Low_complexity_(Seg):seg,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs144127697	.												T	2	4	57	37207021	37207021	G	T	1	0	0	0	0	0	0	0	1	15576	1103	39	1		1	SSTR3	22	37207021	Silent	SNP	G	C3N-00560_TP	336583	37207021	13611447	1272	19211											
TAB1	0	.	GRCh38	chr22	39430133	39430133	+	Missense_Mutation	SNP	G	G	T																															cgctcccgcctggcgaggacGgtcgtgttgagccctatgtg																								rs768487425		C3N-00560_TP	C3N-00560_NB	G	G																c.1426G>T	p.Gly476Cys	p.G476C	ENST00000216160	11/11	319	189	130	353	353	0	strelka-varscan-mutect	TAB1,missense_variant,p.Gly476Cys,ENST00000216160,NM_006116.2;TAB1,intron_variant,,ENST00000331454,NM_153497.2;TAB1,upstream_gene_variant,,ENST00000488859,;TAB1,downstream_gene_variant,,ENST00000473491,;	T	ENST00000216160	Transcript	missense_variant	1488/3237	1426/1515	476/504	G/C	Ggt/Tgt	rs768487425	1		1	TAB1	HGNC	HGNC:18157	protein_coding	YES	CCDS13993.1	ENSP00000216160	Q15750	A8K6K3	UPI0000136861	NM_006116.2	deleterious(0)		11/11																			MODERATE	1	SNV	1			1										PASS		rs768487425	.												T	3	4	57	39430133	39430133	G	T	1	0	0	0	0	1	0	0	0	15891	1116	39	1		1	TAB1	22	39430133	Missense_Mutation	SNP	G	C3N-00560_TP	2223112	39430133	11388335	1273	19212	408	2									
TAB1	0	.	GRCh38	chr22	39430134	39430134	+	Missense_Mutation	SNP	G	G	T																															gctcccgcctggcgaggacgGtcgtgttgagccctatgtgg																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1427G>T	p.Gly476Val	p.G476V	ENST00000216160	11/11	313	182	131	352	352	0	strelka-varscan-mutect	TAB1,missense_variant,p.Gly476Val,ENST00000216160,NM_006116.2;TAB1,intron_variant,,ENST00000331454,NM_153497.2;TAB1,upstream_gene_variant,,ENST00000488859,;TAB1,downstream_gene_variant,,ENST00000473491,;	T	ENST00000216160	Transcript	missense_variant	1489/3237	1427/1515	476/504	G/V	gGt/gTt		1		1	TAB1	HGNC	HGNC:18157	protein_coding	YES	CCDS13993.1	ENSP00000216160	Q15750	A8K6K3	UPI0000136861	NM_006116.2	deleterious(0)		11/11																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	39430134	39430134	G	T	1	0	0	0	0	1	0	0	0	15891	1261	44	2		2	TAB1	22	39430134	Missense_Mutation	SNP	G	C3N-00560_TP	1	39430134	11388334	1274	19213	408	2									
TNRC6B	0	.	GRCh38	chr22	40280071	40280071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaatgatatcatgaggaaGgatcgatctgggttccgtcc	10	13	11	7	2	2	2	1	2	1	0	5	5	4	4	2	3	0	1	2	3	3	4			C3N-00560_TP	C3N-00560_NB	G	G																c.3339G>A	p.=	p.K1113K	ENST00000454349	10/23	119	73	46	160	160	0	strelka-varscan-mutect	TNRC6B,synonymous_variant,p.=,ENST00000454349,NM_001162501.1;TNRC6B,synonymous_variant,p.=,ENST00000335727,NM_015088.2;TNRC6B,synonymous_variant,p.=,ENST00000301923,NM_001024843.1;TNRC6B,synonymous_variant,p.=,ENST00000446273,;TNRC6B,synonymous_variant,p.=,ENST00000402203,;TNRC6B,non_coding_transcript_exon_variant,,ENST00000497559,;	A	ENST00000454349	Transcript	synonymous_variant	3550/18279	3339/5502	1113/1833	K	aaG/aaA	COSM1159108,COSM1159109	1		1	TNRC6B	HGNC	HGNC:29190	protein_coding	YES	CCDS54533.1	ENSP00000401946	Q9UPQ9		UPI00017A6F19	NM_001162501.1			10/23		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF32											1,1						LOW	1	SNV	2		1,1	1										PASS		.	.												A	2	1	57	40280071	40280071	G	A	1	0	0	0	0	0	0	0	1	16814	991	35	3		3	TNRC6B	22	40280071	Silent	SNP	G	C3N-00560_TP	849937	40280071	10538397	1275	19214											
PNPLA3	0	.	GRCh38	chr22	43937236	43937236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctgccctgggatgagAgcatcctggacaccctctcg	7	8	11	15	1	1	1	0	1	1	1	4	4	3	3	4	2	2	2	4	2	0	0			C3N-00560_TP	C3N-00560_NB	A	A																c.943A>G	p.Ser315Gly	p.S315G	ENST00000216180	6/9	245	126	119	305	305	0	strelka-varscan-mutect	PNPLA3,missense_variant,p.Ser315Gly,ENST00000216180,NM_025225.2;PNPLA3,missense_variant,p.Ser311Gly,ENST00000423180,;PNPLA3,non_coding_transcript_exon_variant,,ENST00000497129,;PNPLA3,downstream_gene_variant,,ENST00000478713,;PNPLA3,3_prime_UTR_variant,,ENST00000406117,;	G	ENST00000216180	Transcript	missense_variant	1116/2805	943/1446	315/481	S/G	Agc/Ggc	COSM273130	1		1	PNPLA3	HGNC	HGNC:18590	protein_coding	YES	CCDS14054.1	ENSP00000216180	Q9NST1		UPI000006CED5	NM_025225.2	tolerated(0.21)		6/9		hmmpanther:PTHR12406:SF22,hmmpanther:PTHR12406											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	57	43937236	43937236	A	G	1	0	0	0	0	1	0	0	0	12274	304	11	5		5	PNPLA3	22	43937236	Missense_Mutation	SNP	A	C3N-00560_TP	3657165	43937236	6881232	1276	19215											
PKDREJ	0	.	GRCh38	chr22	46262811	46262811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaagccctgctggggccgcGggcctggcgcggcggagcgc	3	3	20	15	7	0	0	0	0	0	0	0	2	0	1	3	6	3	1	3	6	1	0	rs776386876		C3N-00560_TP	C3N-00560_NB	G	G																c.512C>A	p.Pro171Gln	p.P171Q	ENST00000253255	1/1	21	10	11	20	20	0	strelka-varscan-mutect	PKDREJ,missense_variant,p.Pro171Gln,ENST00000253255,NM_006071.1;	T	ENST00000253255	Transcript	missense_variant	545/7693	512/6762	171/2253	P/Q	cCg/cAg	rs776386876,COSM4939771	1		-1	PKDREJ	HGNC	HGNC:9015	protein_coding	YES	CCDS14073.1	ENSP00000253255	Q9NTG1		UPI0000031D01	NM_006071.1	deleterious(0.02)		1/1		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV			0,1	1										PASS		rs776386876	.												T	3	4	57	46262811	46262811	G	T	1	0	0	0	0	1	0	0	0	12066	1116	39	1		1	PKDREJ	22	46262811	Missense_Mutation	SNP	G	C3N-00560_TP	2325575	46262811	4555657	1277	19216											
SELO	0	.	GRCh38	chr22	50208563	50208563	+	Silent	SNP	T	T	C																															tcctttgagatttttaagtcTgcagatgagcacacagggcg																								novel		C3N-00560_TP	C3N-00560_NB	T	T																c.786T>C	p.=	p.S262S	ENST00000380903	3/9	119	78	41	145	145	0	strelka-mutect	SELO,synonymous_variant,p.=,ENST00000380903,NM_031454.1;SELO,synonymous_variant,p.=,ENST00000611222,;RP3-402G11.28,non_coding_transcript_exon_variant,,ENST00000608016,;RP3-402G11.27,upstream_gene_variant,,ENST00000610050,;SELO,non_coding_transcript_exon_variant,,ENST00000492092,;	C	ENST00000380903	Transcript	synonymous_variant	844/2315	786/2010	262/669	S	tcT/tcC		1		1	SELO	EntrezGene		protein_coding	YES	CCDS43034.1	ENSP00000370288			UPI00001B2972	NM_031454.1			3/9		HAMAP:MF_00692,Pfam_domain:PF02696,hmmpanther:PTHR12153																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	57	50208563	50208563	T	C	1	0	0	0	0	0	0	0	1	14295	1567	55	5		5	SELO	22	50208563	Silent	SNP	T	C3N-00560_TP	3945752	50208563	609905	1278	19217	409	2									
SELO	0	.	GRCh38	chr22	50208564	50208564	+	Missense_Mutation	SNP	G	G	T																															cctttgagatttttaagtctGcagatgagcacacagggcgt																								novel		C3N-00560_TP	C3N-00560_NB	G	G																c.787G>T	p.Ala263Ser	p.A263S	ENST00000380903	3/9	119	77	42	148	148	0	strelka-mutect	SELO,missense_variant,p.Ala263Ser,ENST00000380903,NM_031454.1;SELO,missense_variant,p.Ala263Ser,ENST00000611222,;RP3-402G11.28,non_coding_transcript_exon_variant,,ENST00000608016,;RP3-402G11.27,upstream_gene_variant,,ENST00000610050,;SELO,non_coding_transcript_exon_variant,,ENST00000492092,;	T	ENST00000380903	Transcript	missense_variant	845/2315	787/2010	263/669	A/S	Gca/Tca		1		1	SELO	EntrezGene		protein_coding	YES	CCDS43034.1	ENSP00000370288			UPI00001B2972	NM_031454.1	tolerated(0.71)		3/9		HAMAP:MF_00692,Pfam_domain:PF02696,hmmpanther:PTHR12153																	MODERATE	1	SNV	1			1										PASS		rs1362858894	.												T	3	4	57	50208564	50208564	G	T	1	0	0	0	0	1	0	0	0	14295	1319	46	2		2	SELO	22	50208564	Missense_Mutation	SNP	G	C3N-00560_TP	1	50208564	609904	1279	19218	409	2									
CSF2RA	0	.	GRCh38	chrX	1285846	1285846	+	Missense_Mutation	SNP	T	T	C																															ccaggacgatgaatttaagcTgggactgccaagaaaacaca																								novel		C3N-00560_TP	C3N-00560_NB	T	T																c.145T>C	p.Trp49Arg	p.W49R	ENST00000417535	4/14	1115	986	129	615	615	0	strelka-varscan-mutect	CSF2RA,missense_variant,p.Trp49Arg,ENST00000381524,;CSF2RA,missense_variant,p.Trp49Arg,ENST00000417535,NM_001161530.1;CSF2RA,missense_variant,p.Trp49Arg,ENST00000432318,NM_001161529.1;CSF2RA,missense_variant,p.Trp49Arg,ENST00000381529,NM_006140.4,NM_172245.2;CSF2RA,missense_variant,p.Trp49Arg,ENST00000355432,NM_172246.2;CSF2RA,missense_variant,p.Trp49Arg,ENST00000381509,NM_001161531.1;CSF2RA,missense_variant,p.Trp49Arg,ENST00000355805,NM_172249.2;CSF2RA,missense_variant,p.Trp49Arg,ENST00000381500,NM_172247.2;CSF2RA,missense_variant,p.Trp49Arg,ENST00000412290,;CSF2RA,missense_variant,p.Trp49Arg,ENST00000494969,;CSF2RA,intron_variant,,ENST00000501036,NM_001161532.1;CSF2RA,non_coding_transcript_exon_variant,,ENST00000477940,;CSF2RA,intron_variant,,ENST00000493312,;CSF2RA,upstream_gene_variant,,ENST00000475259,;CSF2RA,downstream_gene_variant,,ENST00000481245,;CSF2RA,upstream_gene_variant,,ENST00000478256,;CSF2RA,missense_variant,p.Trp49Arg,ENST00000486791,;	C	ENST00000417535	Transcript	missense_variant	339/1955	145/1305	49/434	W/R	Tgg/Cgg		1		1	CSF2RA	HGNC	HGNC:2435	protein_coding	YES	CCDS55359.1	ENSP00000394227	P15509		UPI000159C3E4	NM_001161530.1	deleterious(0)		4/14		hmmpanther:PTHR23036:SF94,hmmpanther:PTHR23036																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	57	1285846	1285846	T	C	1	0	0	0	0	1	0	0	0	3735	1580	55	5		5	CSF2RA	23	1285846	Missense_Mutation	SNP	T	C3N-00560_TP		1285846	154755049	1280	19219	410	2									
CSF2RA	0	.	GRCh38	chrX	1285847	1285847	+	Missense_Mutation	SNP	G	G	T																															caggacgatgaatttaagctGggactgccaagaaaacacaa																										C3N-00560_TP	C3N-00560_NB	G	G																c.146G>T	p.Trp49Leu	p.W49L	ENST00000417535	4/14	1125	996	129	619	617	2	strelka-varscan-mutect	CSF2RA,missense_variant,p.Trp49Leu,ENST00000381524,;CSF2RA,missense_variant,p.Trp49Leu,ENST00000417535,NM_001161530.1;CSF2RA,missense_variant,p.Trp49Leu,ENST00000432318,NM_001161529.1;CSF2RA,missense_variant,p.Trp49Leu,ENST00000381529,NM_006140.4,NM_172245.2;CSF2RA,missense_variant,p.Trp49Leu,ENST00000355432,NM_172246.2;CSF2RA,missense_variant,p.Trp49Leu,ENST00000381509,NM_001161531.1;CSF2RA,missense_variant,p.Trp49Leu,ENST00000355805,NM_172249.2;CSF2RA,missense_variant,p.Trp49Leu,ENST00000381500,NM_172247.2;CSF2RA,missense_variant,p.Trp49Leu,ENST00000412290,;CSF2RA,missense_variant,p.Trp49Leu,ENST00000494969,;CSF2RA,intron_variant,,ENST00000501036,NM_001161532.1;CSF2RA,non_coding_transcript_exon_variant,,ENST00000477940,;CSF2RA,intron_variant,,ENST00000493312,;CSF2RA,upstream_gene_variant,,ENST00000475259,;CSF2RA,downstream_gene_variant,,ENST00000481245,;CSF2RA,upstream_gene_variant,,ENST00000478256,;CSF2RA,missense_variant,p.Trp49Leu,ENST00000486791,;	T	ENST00000417535	Transcript	missense_variant	340/1955	146/1305	49/434	W/L	tGg/tTg	COSM368353,COSM368354	1		1	CSF2RA	HGNC	HGNC:2435	protein_coding	YES	CCDS55359.1	ENSP00000394227	P15509		UPI000159C3E4	NM_001161530.1	deleterious(0)		4/14		hmmpanther:PTHR23036:SF94,hmmpanther:PTHR23036											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	57	1285847	1285847	G	T	1	0	0	0	0	1	0	0	0	3735	1357	47	2		2	CSF2RA	23	1285847	Missense_Mutation	SNP	G	C3N-00560_TP	1	1285847	154755048	1281	19220	410	2									
CSF2RA	0	.	GRCh38	chrX	1300570	1300570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacacagtgtgaagatcaGagctgcagacgtccgcatct	14	7	10	10	2	2	4	1	1	1	3	3	4	3	4	1	0	3	3	1	0	3	0			C3N-00560_TP	C3N-00560_NB	G	G																c.890G>T	p.Arg297Ile	p.R297I	ENST00000417535	10/14	927	809	118	480	478	2	strelka-varscan-mutect	CSF2RA,missense_variant,p.Arg297Ile,ENST00000381524,;CSF2RA,missense_variant,p.Arg297Ile,ENST00000417535,NM_001161530.1;CSF2RA,missense_variant,p.Arg297Ile,ENST00000432318,NM_001161529.1;CSF2RA,missense_variant,p.Arg297Ile,ENST00000381529,NM_006140.4,NM_172245.2;CSF2RA,missense_variant,p.Arg297Ile,ENST00000355432,NM_172246.2;CSF2RA,missense_variant,p.Arg164Ile,ENST00000501036,NM_001161532.1;CSF2RA,missense_variant,p.Arg297Ile,ENST00000381509,NM_001161531.1;CSF2RA,missense_variant,p.Arg297Ile,ENST00000381500,NM_172247.2;CSF2RA,intron_variant,,ENST00000355805,NM_172249.2;CSF2RA,intron_variant,,ENST00000494969,;RNA5SP498,upstream_gene_variant,,ENST00000411342,;CSF2RA,non_coding_transcript_exon_variant,,ENST00000498153,;CSF2RA,non_coding_transcript_exon_variant,,ENST00000475259,;CSF2RA,downstream_gene_variant,,ENST00000493312,;CSF2RA,downstream_gene_variant,,ENST00000491683,;CSF2RA,intron_variant,,ENST00000486791,;	T	ENST00000417535	Transcript	missense_variant	1084/1955	890/1305	297/434	R/I	aGa/aTa	COSM4770857,COSM4770858,COSM4770859	1		1	CSF2RA	HGNC	HGNC:2435	protein_coding	YES	CCDS55359.1	ENSP00000394227	P15509		UPI000159C3E4	NM_001161530.1	deleterious(0)		10/14		PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF94,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Superfamily_domains:SSF49265											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												T	3	4	57	1300570	1300570	G	T	1	0	0	0	0	1	0	0	0	3735	942	33	2		2	CSF2RA	23	1300570	Missense_Mutation	SNP	G	C3N-00560_TP	14723	1300570	154740325	1282	19221											
IL3RA	0	.	GRCh38	chrX	1341815	1341815	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgccctgccctgtctccTgcaaacgaaggaaggtaaga	11	7	11	12	2	1	1	0	0	1	1	3	4	1	2	3	2	3	2	3	2	4	1	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.50T>A	p.Leu17Gln	p.L17Q	ENST00000331035	2/12	296	224	72	346	346	0	strelka-varscan-mutect	IL3RA,missense_variant,p.Leu17Gln,ENST00000331035,NM_002183.3;IL3RA,missense_variant,p.Leu17Gln,ENST00000381469,NM_001267713.1;IL3RA,missense_variant,p.Leu17Gln,ENST00000432757,;	A	ENST00000331035	Transcript	missense_variant	399/1706	50/1137	17/378	L/Q	cTg/cAg		1		1	IL3RA	HGNC	HGNC:6012	protein_coding	YES	CCDS14113.1	ENSP00000327890	P26951		UPI0000001C31	NM_002183.3	tolerated(0.08)		2/12		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF94																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	1341815	1341815	T	A	1	0	0	0	0	1	0	0	0	7599	1580	55	4		4	IL3RA	23	1341815	Missense_Mutation	SNP	T	C3N-00560_TP	41245	1341815	154699080	1283	19222											
ASMT	0	.	GRCh38	chrX	1624306	1624306	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtccagcgactacctGaccacggtcagcccgacgtc	8	6	11	16	4	1	1	1	1	0	0	3	4	2	1	4	1	4	1	4	1	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.282G>T	p.=	p.L94L	ENST00000381241	3/9	713	303	410	368	368	0	strelka-varscan-mutect	ASMT,synonymous_variant,p.=,ENST00000381241,NM_004043.2,NM_001171038.1;ASMT,synonymous_variant,p.=,ENST00000381229,;ASMT,synonymous_variant,p.=,ENST00000381233,NM_001171039.1;ASMT,upstream_gene_variant,,ENST00000509780,;	T	ENST00000381241	Transcript	synonymous_variant	481/1388	282/1122	94/373	L	ctG/ctT		1		1	ASMT	HGNC	HGNC:750	protein_coding	YES	CCDS14117.1	ENSP00000370639	P46597	A0A024RBT9	UPI00001AEDD0	NM_004043.2,NM_001171038.1			3/9		PROSITE_profiles:PS51683,hmmpanther:PTHR11746:SF71,hmmpanther:PTHR11746,Pfam_domain:PF16864																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	57	1624306	1624306	G	T	1	0	0	0	0	0	0	0	1	1192	1277	45	2		2	ASMT	23	1624306	Silent	SNP	G	C3N-00560_TP	282491	1624306	154416589	1284	19223											
ASMT	0	.	GRCh38	chrX	1642933	1642933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccccacccactaccacatGctcctctcttctgctggctt	6	11	4	20	0	2	0	0	0	2	0	4	0	3	0	5	1	3	3	5	1	1	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1041G>T	p.Met347Ile	p.M347I	ENST00000381241	9/9	1199	550	649	651	651	0	strelka-varscan-mutect	ASMT,missense_variant,p.Met347Ile,ENST00000381241,NM_004043.2,NM_001171038.1;ASMT,missense_variant,p.Met319Ile,ENST00000381229,;ASMT,missense_variant,p.Met272Ile,ENST00000381233,NM_001171039.1;ASMT,missense_variant,p.Met98Ile,ENST00000432523,;	T	ENST00000381241	Transcript	missense_variant	1240/1388	1041/1122	347/373	M/I	atG/atT		1		1	ASMT	HGNC	HGNC:750	protein_coding	YES	CCDS14117.1	ENSP00000370639	P46597	A0A024RBT9	UPI00001AEDD0	NM_004043.2,NM_001171038.1	tolerated(0.13)		9/9		PROSITE_profiles:PS51683,hmmpanther:PTHR11746:SF71,hmmpanther:PTHR11746,Pfam_domain:PF00891,Gene3D:3.40.50.150,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	1642933	1642933	G	T	1	0	0	0	0	1	0	0	0	1192	1319	46	2		2	ASMT	23	1642933	Missense_Mutation	SNP	G	C3N-00560_TP	18627	1642933	154397962	1285	19224											
MXRA5	0	.	GRCh38	chrX	3317430	3317430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcggatctgggtaccgtccCcgagcacccagcgcacgctg	6	5	14	16	5	1	0	0	0	1	0	2	2	2	1	4	3	3	4	4	3	1	1	rs188082959		C3N-00560_TP	C3N-00560_NB	C	C																c.6251G>T	p.Gly2084Val	p.G2084V	ENST00000217939	6/7	98	33	65	97	97	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Gly2084Val,ENST00000217939,NM_015419.3;	A	ENST00000217939	Transcript	missense_variant	6406/9793	6251/8487	2084/2828	G/V	gGg/gTg	rs188082959	1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	tolerated(0.5)		6/7		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs188082959	.												A	3	1	57	3317430	3317430	C	A	1	0	0	0	0	1	0	0	0	10002	623	22	2		2	MXRA5	23	3317430	Missense_Mutation	SNP	C	C3N-00560_TP	1674497	3317430	152723465	1286	19225											
NLGN4X	0	.	GRCh38	chrX	6151459	6151459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatagcagtccctggggcCgtgacatggttcaaatctgc	8	9	12	12	1	2	1	1	1	1	0	3	1	3	1	3	3	2	2	3	3	2	2	rs139587269		C3N-00560_TP	C3N-00560_NB	C	C																c.8G>T	p.Arg3Leu	p.R3L	ENST00000381095	2/6	172	69	103	143	143	0	strelka-varscan-mutect	NLGN4X,missense_variant,p.Arg3Leu,ENST00000381095,NM_181332.2,NM_001282145.1;NLGN4X,missense_variant,p.Arg3Leu,ENST00000381093,NM_001282146.1;NLGN4X,missense_variant,p.Arg3Leu,ENST00000275857,NM_020742.3;NLGN4X,missense_variant,p.Arg3Leu,ENST00000381092,;NLGN4X,upstream_gene_variant,,ENST00000538097,;NLGN4X,non_coding_transcript_exon_variant,,ENST00000469740,;NLGN4X,non_coding_transcript_exon_variant,,ENST00000483337,;	A	ENST00000381095	Transcript	missense_variant	636/5870	8/2451	3/816	R/L	cGg/cTg	rs139587269	1		-1	NLGN4X	HGNC	HGNC:14287	protein_coding	YES	CCDS14126.1	ENSP00000370485	Q8N0W4	A0A024RBV0	UPI0000072EC5	NM_181332.2,NM_001282145.1	tolerated_low_confidence(0.08)		2/6		hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF260																	MODERATE	1	SNV	1			1										PASS		rs139587269	.												A	3	1	57	6151459	6151459	C	A	1	0	0	0	0	1	0	0	0	10501	652	23	1		1	NLGN4X	23	6151459	Missense_Mutation	SNP	C	C3N-00560_TP	2834029	6151459	149889436	1287	19226											
SHROOM2	0	.	GRCh38	chrX	9895385	9895385	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcagcacagctctgggcgGgatgctggccttctgacaca	9	7	13	12	1	2	1	0	1	2	0	2	2	2	2	1	3	4	4	1	3	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1477G>T	p.Gly493Ter	p.G493*	ENST00000380913	4/10	48	14	34	39	39	0	strelka-varscan-mutect	SHROOM2,stop_gained,p.Gly493Ter,ENST00000380913,NM_001649.2;SHROOM2,upstream_gene_variant,,ENST00000493668,;	T	ENST00000380913	Transcript	stop_gained	1567/7447	1477/4851	493/1616	G/*	Gga/Tga		1		1	SHROOM2	HGNC	HGNC:630	protein_coding	YES	CCDS14135.1	ENSP00000370299	Q13796		UPI0000125D05	NM_001649.2			4/10		hmmpanther:PTHR15012:SF8,hmmpanther:PTHR15012																	HIGH	1	SNV	1			1										PASS		rs935978898	.												T	4	4	57	9895385	9895385	G	T	1	0	0	0	0	0	1	0	0	14557	1233	43	2		2	SHROOM2	23	9895385	Nonsense_Mutation	SNP	G	C3N-00560_TP	3743926	9895385	146145510	1288	19227											
FRMPD4	0	.	GRCh38	chrX	12609882	12609882	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgttcgctcagtaacaccagGtaagcacccaatcccagttc	11	8	7	15	2	1	0	1	0	0	0	4	0	2	0	3	1	2	6	3	1	3	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.319+1G>T		p.X107_splice	ENST00000380682		63	27	36	45	45	0	strelka-varscan-mutect	FRMPD4,splice_donor_variant,,ENST00000380682,NM_014728.3;FRMPD4,splice_donor_variant,,ENST00000616992,;RN7SKP290,downstream_gene_variant,,ENST00000606842,;	T	ENST00000380682	Transcript	splice_donor_variant	-/8465	319/3969	107/1322				1		1	FRMPD4	HGNC	HGNC:29007	protein_coding	YES	CCDS35201.1	ENSP00000370057	Q14CM0		UPI00001C2066	NM_014728.3				3/16																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	57	12609882	12609882	G	T	1	0	0	0	0	0	0	1	0	5930	1275	44	2		2	FRMPD4	23	12609882	Splice_Site	SNP	G	C3N-00560_TP	2714497	12609882	143431013	1289	19228											
ZNF645	0	.	GRCh38	chrX	22273628	22273628	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggatatccaggctcctcccCcagaactatctctaagtctg	10	10	7	14	0	2	1	0	0	2	1	6	2	5	2	4	2	1	1	4	2	4	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.637C>A	p.Pro213Thr	p.P213T	ENST00000323684	1/1	85	33	52	95	95	0	strelka-varscan-mutect	ZNF645,missense_variant,p.Pro213Thr,ENST00000323684,NM_152577.3;PTCHD1-AS,intron_variant,,ENST00000608254,;	A	ENST00000323684	Transcript	missense_variant	686/1519	637/1278	213/425	P/T	Cca/Aca		1		1	ZNF645	HGNC	HGNC:26371	protein_coding	YES	CCDS14205.1	ENSP00000323348	Q8N7E2		UPI0000073BD5	NM_152577.3	tolerated(0.75)		1/1		hmmpanther:PTHR13480,hmmpanther:PTHR13480:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		rs1239511357	.												A	3	1	57	22273628	22273628	C	A	1	0	0	0	0	1	0	0	0	18634	623	22	2		2	ZNF645	23	22273628	Missense_Mutation	SNP	C	C3N-00560_TP	9663746	22273628	133767267	1290	19229											
IL1RAPL1	0	.	GRCh38	chrX	29955460	29955460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggctttagatgtcagtgaGcaagggccttttggggagct	8	11	15	7	0	1	2	1	1	0	1	1	3	1	3	1	4	2	3	1	4	2	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1731G>T	p.Glu577Asp	p.E577D	ENST00000378993	11/11	198	77	121	141	141	0	strelka-varscan-mutect	IL1RAPL1,missense_variant,p.Glu577Asp,ENST00000378993,NM_014271.3;IL1RAPL1,missense_variant,p.Glu318Asp,ENST00000302196,;	T	ENST00000378993	Transcript	missense_variant	2404/3667	1731/2091	577/696	E/D	gaG/gaT		1		1	IL1RAPL1	HGNC	HGNC:5996	protein_coding	YES	CCDS14218.1	ENSP00000368278	Q9NZN1	X5DNQ7	UPI000006D1BF	NM_014271.3	deleterious(0.01)		11/11		hmmpanther:PTHR11890:SF22,hmmpanther:PTHR11890																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	29955460	29955460	G	T	1	0	0	0	0	1	0	0	0	7564	962	34	2		2	IL1RAPL1	23	29955460	Missense_Mutation	SNP	G	C3N-00560_TP	7681832	29955460	126085435	1291	19230											
DMD	0	.	GRCh38	chrX	31146365	31146365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcggacctctgtagagagGtagaaggagaggacaccgtt	11	8	15	7	2	1	3	0	0	1	3	2	7	1	5	2	4	0	3	2	4	3	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.10847C>T	p.Thr3616Ile	p.T3616I	ENST00000357033	76/79	317	295	22	256	256	0	strelka-varscan-mutect	DMD,missense_variant,p.Thr3616Ile,ENST00000357033,NM_000109.3,NM_004006.2;DMD,missense_variant,p.Thr3612Ile,ENST00000378677,NM_004010.3,NM_004009.3;DMD,missense_variant,p.Thr3615Ile,ENST00000620040,;DMD,missense_variant,p.Thr3611Ile,ENST00000619831,;DMD,missense_variant,p.Thr1156Ile,ENST00000378707,NM_004013.2;DMD,missense_variant,p.Thr1143Ile,ENST00000359836,NM_004022.2;DMD,missense_variant,p.Thr1046Ile,ENST00000541735,NM_004020.3,NM_004023.2;DMD,missense_variant,p.Thr1299Ile,ENST00000358062,;DMD,missense_variant,p.Thr887Ile,ENST00000343523,NM_004014.2;DMD,missense_variant,p.Thr1156Ile,ENST00000474231,NM_004021.2;DMD,missense_variant,p.Thr548Ile,ENST00000378723,NM_004016.2;DMD,missense_variant,p.Thr548Ile,ENST00000378702,NM_004015.2,NM_004017.2;DMD,missense_variant,p.Thr535Ile,ENST00000361471,NM_004018.2;DMD,missense_variant,p.Thr438Ile,ENST00000378680,;DMD,intron_variant,,ENST00000481143,;	A	ENST00000357033	Transcript	missense_variant	11054/13956	10847/11058	3616/3685	T/I	aCc/aTc		1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2	deleterious(0.01)		76/79		hmmpanther:PTHR11915:SF261,hmmpanther:PTHR11915,PIRSF_domain:PIRSF002341																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	31146365	31146365	G	A	1	0	0	0	0	1	0	0	0	4387	1261	44	3		3	DMD	23	31146365	Missense_Mutation	SNP	G	C3N-00560_TP	1190905	31146365	124894530	1292	19231											
DMD	0	.	GRCh38	chrX	32844826	32844826	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccttgttgacattgttcAgggcatgaactcttgtggat	7	15	12	7	0	2	2	1	2	1	0	2	3	2	3	1	2	2	3	1	2	1	5	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.221T>A	p.Leu74Gln	p.L74Q	ENST00000357033	4/79	298	133	165	234	234	0	strelka-varscan-mutect	DMD,missense_variant,p.Leu74Gln,ENST00000357033,NM_000109.3,NM_004006.2;DMD,missense_variant,p.Leu70Gln,ENST00000378677,NM_004010.3,NM_004009.3;DMD,missense_variant,p.Leu74Gln,ENST00000620040,;DMD,missense_variant,p.Leu70Gln,ENST00000619831,;DMD,missense_variant,p.Leu66Gln,ENST00000288447,;DMD,missense_variant,p.Leu37Gln,ENST00000447523,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;DMD,downstream_gene_variant,,ENST00000472681,;	T	ENST00000357033	Transcript	missense_variant	428/13956	221/11058	74/3685	L/Q	cTg/cAg		1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2	deleterious(0)		4/79		PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF261,hmmpanther:PTHR11915,Gene3D:1.10.418.10,Pfam_domain:PF00307,PIRSF_domain:PIRSF002341,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		rs398123880	.												T	3	4	57	32844826	32844826	A	T	1	0	0	0	0	1	0	0	0	4387	188	7	4		4	DMD	23	32844826	Missense_Mutation	SNP	A	C3N-00560_TP	1698461	32844826	123196069	1293	19232											
FAM47A	0	.	GRCh38	chrX	34130609	34130609	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctttgggaggctccgggTggagactggacacccgacga	8	6	17	10	3	0	1	0	0	0	1	1	7	1	3	2	5	1	2	2	5	0	1	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.1670A>T	p.His557Leu	p.H557L	ENST00000346193	1/1	101	39	62	91	91	0	strelka-varscan-mutect	FAM47A,missense_variant,p.His557Leu,ENST00000346193,NM_203408.3;FAM47A,missense_variant,p.His544Leu,ENST00000613251,;	A	ENST00000346193	Transcript	missense_variant	1703/2556	1670/2376	557/791	H/L	cAc/cTc		1		-1	FAM47A	HGNC	HGNC:29962	protein_coding	YES	CCDS43926.1	ENSP00000345029	Q5JRC9		UPI000013F1F4	NM_203408.3	tolerated(0.64)		1/1		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF200																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	57	34130609	34130609	T	A	1	0	0	0	0	1	0	0	0	5447	1696	59	4		4	FAM47A	23	34130609	Missense_Mutation	SNP	T	C3N-00560_TP	1285783	34130609	121910286	1294	19233											
FAM47C	0	.	GRCh38	chrX	37009553	37009553	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtcccatctctgcccggaAcctcccaagactcgcgtacc	7	8	8	18	3	1	1	0	0	1	1	5	2	3	2	5	1	3	1	5	1	3	1	rs782492678		C3N-00560_TP	C3N-00560_NB	A	A																c.1143A>C	p.Glu381Asp	p.E381D	ENST00000358047	1/1	156	109	47	140	140	0	strelka-varscan-mutect	FAM47C,missense_variant,p.Glu381Asp,ENST00000358047,NM_001013736.2;	C	ENST00000358047	Transcript	missense_variant	1157/3270	1143/3108	381/1035	E/D	gaA/gaC	rs782492678	1		1	FAM47C	HGNC	HGNC:25301	protein_coding	YES	CCDS35227.1	ENSP00000367913	Q5HY64		UPI000041ABF8	NM_001013736.2	deleterious(0.01)		1/1		Pfam_domain:PF14642,Pfam_domain:PF14642																	MODERATE	1	SNV				1										PASS		rs782492678	.												C	3	2	57	37009553	37009553	A	C	1	0	0	0	0	1	0	0	0	5449	40	2	5		5	FAM47C	23	37009553	Missense_Mutation	SNP	A	C3N-00560_TP	2878944	37009553	119031342	1295	19234			1	13		3	3	218	N	G_C_A	4.15318e-05
FAM47C	0	.	GRCh38	chrX	37009587	37009587	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtacctcctctccgcccaGagacccccaagaatggagtg	9	6	10	16	2	1	2	0	0	1	2	3	4	2	3	6	1	1	1	6	1	3	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1177G>T	p.Glu393Ter	p.E393*	ENST00000358047	1/1	158	75	83	158	158	0	strelka-varscan-mutect	FAM47C,stop_gained,p.Glu393Ter,ENST00000358047,NM_001013736.2;	T	ENST00000358047	Transcript	stop_gained	1191/3270	1177/3108	393/1035	E/*	Gag/Tag		1		1	FAM47C	HGNC	HGNC:25301	protein_coding	YES	CCDS35227.1	ENSP00000367913	Q5HY64		UPI000041ABF8	NM_001013736.2			1/1		Pfam_domain:PF14642																	HIGH	1	SNV				1										PASS		.	.												T	4	4	57	37009587	37009587	G	T	1	0	0	0	0	0	1	0	0	5449	943	33	2		2	FAM47C	23	37009587	Nonsense_Mutation	SNP	G	C3N-00560_TP	34	37009587	119031308	1296	19235			1	13		3	3	218	N	G_C_A	4.15318e-05
FAM47C	0	.	GRCh38	chrX	37009770	37009770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtcccatctccgcccagagCctcccaagactcgggtgtcc	6	8	9	18	2	1	2	0	0	1	2	6	2	4	2	6	1	1	0	6	1	1	0	rs782169623		C3N-00560_TP	C3N-00560_NB	C	C																c.1360C>A	p.Pro454Thr	p.P454T	ENST00000358047	1/1	196	101	95	240	239	1	strelka-varscan-mutect	FAM47C,missense_variant,p.Pro454Thr,ENST00000358047,NM_001013736.2;	A	ENST00000358047	Transcript	missense_variant	1374/3270	1360/3108	454/1035	P/T	Cct/Act	rs782169623	1		1	FAM47C	HGNC	HGNC:25301	protein_coding	YES	CCDS35227.1	ENSP00000367913	Q5HY64		UPI000041ABF8	NM_001013736.2	deleterious(0.02)		1/1		Pfam_domain:PF14642																	MODERATE	1	SNV				1										PASS		rs782169623	.												A	3	1	57	37009770	37009770	C	A	1	0	0	0	0	1	0	0	0	5449	739	26	2		2	FAM47C	23	37009770	Missense_Mutation	SNP	C	C3N-00560_TP	183	37009770	119031125	1297	19236			1	13		3	3	218	N	G_C_A	4.15318e-05
SYTL5	0	.	GRCh38	chrX	38073632	38073632	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcaaacccgccaggatgCagaaaagtcagacacttcac	16	4	9	12	1	2	3	2	0	0	3	2	4	2	4	2	1	3	2	2	1	3	1	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.488C>A	p.Ala163Glu	p.A163E	ENST00000456733	4/17	78	29	49	55	55	0	strelka-varscan-mutect	SYTL5,missense_variant,p.Ala163Glu,ENST00000297875,NM_138780.2,NM_001163335.1;SYTL5,missense_variant,p.Ala163Glu,ENST00000456733,NM_001163334.1;RP5-972B16.2,intron_variant,,ENST00000465127,;	A	ENST00000456733	Transcript	missense_variant	844/4704	488/2259	163/752	A/E	gCa/gAa		1		1	SYTL5	HGNC	HGNC:15589	protein_coding	YES	CCDS55399.1	ENSP00000395220	Q8TDW5		UPI0000F0599F	NM_001163334.1	tolerated(0.3)		4/17		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	38073632	38073632	C	A	1	0	0	0	0	1	0	0	0	15880	710	25	2		2	SYTL5	23	38073632	Missense_Mutation	SNP	C	C3N-00560_TP	1063862	38073632	117967263	1298	19237											
NYX	0	.	GRCh38	chrX	41473859	41473859	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccttcgcggcgctcagcCgcctgcgccgcctagaccta	5	6	11	19	6	1	1	1	0	0	1	2	1	1	1	6	1	2	2	6	1	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.406C>A	p.Arg136Ser	p.R136S	ENST00000342595	2/2	63	24	39	41	41	0	strelka-varscan-mutect	NYX,missense_variant,p.Arg136Ser,ENST00000342595,NM_022567.2;NYX,missense_variant,p.Arg136Ser,ENST00000378220,;NYX,downstream_gene_variant,,ENST00000486842,;RP1-169I5.4,upstream_gene_variant,,ENST00000451718,;	A	ENST00000342595	Transcript	missense_variant	862/2713	406/1446	136/481	R/S	Cgc/Agc		1		1	NYX	HGNC	HGNC:8082	protein_coding	YES	CCDS14256.1	ENSP00000340328	Q9GZU5		UPI0000130B37	NM_022567.2	tolerated(0.18)		2/2		Gene3D:3.80.10.10,Low_complexity_(Seg):seg,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	41473859	41473859	C	A	1	0	0	0	0	1	0	0	0	10875	652	23	1		1	NYX	23	41473859	Missense_Mutation	SNP	C	C3N-00560_TP	3400227	41473859	114567036	1299	19238											
ZNF630	0	.	GRCh38	chrX	48059703	48059703	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atactgaacatgggcttgctTatgactgagaactttttcac	11	14	8	8	0	1	3	1	3	0	1	1	4	1	3	0	1	4	2	0	1	4	5	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.739A>T	p.Lys247Ter	p.K247*	ENST00000442455	5/5	71	26	45	81	81	0	strelka-varscan-mutect	ZNF630,stop_gained,p.Lys247Ter,ENST00000442455,NM_001190255.2,NM_001282201.1;ZNF630,stop_gained,p.Lys123Ter,ENST00000276054,NM_001282202.1;ZNF630,stop_gained,p.Lys247Ter,ENST00000409324,NM_001037735.3;ZNF630,stop_gained,p.Lys233Ter,ENST00000616492,;ZNF630,downstream_gene_variant,,ENST00000428686,;ZNF630,downstream_gene_variant,,ENST00000627643,;ZNF630,downstream_gene_variant,,ENST00000421903,;ZNF630-AS1,intron_variant,,ENST00000614448,;ZNF630,intron_variant,,ENST00000428463,;	A	ENST00000442455	Transcript	stop_gained	1306/2829	739/1974	247/657	K/*	Aag/Tag		1		-1	ZNF630	HGNC	HGNC:28855	protein_coding	YES	CCDS35237.2	ENSP00000393163	Q2M218		UPI0000160BE4	NM_001190255.2,NM_001282201.1			5/5		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF216,Superfamily_domains:SSF57667																	HIGH		SNV	4			1										PASS		.	.												A	4	1	57	48059703	48059703	T	A	1	0	0	0	0	0	1	0	0	18629	1763	61	4		4	ZNF630	23	48059703	Nonsense_Mutation	SNP	T	C3N-00560_TP	6585844	48059703	107981192	1300	19239											
CCNB3	0	.	GRCh38	chrX	50308652	50308652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaagccattagttttaaaGgaggaacccactattgagga	16	9	10	6	0	0	2	0	1	0	1	0	5	0	5	2	3	2	1	2	3	6	5			C3N-00560_TP	C3N-00560_NB	G	G																c.483G>A	p.=	p.K161K	ENST00000376042	6/13	126	66	60	106	106	0	strelka-varscan-mutect	CCNB3,synonymous_variant,p.=,ENST00000376042,;CCNB3,synonymous_variant,p.=,ENST00000276014,NM_033031.2;CCNB3,intron_variant,,ENST00000348603,NM_033670.2;CCNB3,intron_variant,,ENST00000376038,;CCNB3,intron_variant,,ENST00000476167,;	A	ENST00000376042	Transcript	synonymous_variant	781/4693	483/4188	161/1395	K	aaG/aaA	COSM3562140	1		1	CCNB3	HGNC	HGNC:18709	protein_coding	YES	CCDS14331.1	ENSP00000365210	Q8WWL7		UPI000022DC76				6/13													1						LOW	1	SNV	2		1	1										PASS		.	.												A	2	1	57	50308652	50308652	G	A	1	0	0	0	0	0	0	0	1	2613	991	35	3		3	CCNB3	23	50308652	Silent	SNP	G	C3N-00560_TP	2248949	50308652	105732243	1301	19240											
DGKK	0	.	GRCh38	chrX	50378157	50378157	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttgataaggcctggtcTctgaatccaggcctccccat	9	12	8	12	0	1	2	0	2	1	0	4	2	3	2	5	3	0	0	5	3	3	3	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.3052A>G	p.Arg1018Gly	p.R1018G	ENST00000611977	22/28	138	54	84	111	111	0	strelka-varscan-mutect	DGKK,missense_variant,p.Arg1018Gly,ENST00000611977,NM_001013742.3;	C	ENST00000611977	Transcript	missense_variant	3112/7407	3052/3816	1018/1271	R/G	Aga/Gga		1		-1	DGKK	HGNC	HGNC:32395	protein_coding	YES	CCDS75980.1	ENSP00000477515	Q5KSL6		UPI00004BA922	NM_001013742.3	deleterious(0.02)		22/28		hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF33,Superfamily_domains:SSF111331																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	50378157	50378157	T	C	1	0	0	0	0	1	0	0	0	4278	1559	54	5		5	DGKK	23	50378157	Missense_Mutation	SNP	T	C3N-00560_TP	69505	50378157	105662738	1302	19241											
MAGED2	0	.	GRCh38	chrX	54810849	54810849	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctggatggggaagaggatgGcagcagtgatcagagtcagg	11	7	18	5	0	3	3	2	1	1	2	3	6	3	6	0	6	1	2	0	6	1	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.566G>C	p.Gly189Ala	p.G189A	ENST00000375068	4/13	40	12	28	42	42	0	strelka-varscan-mutect	MAGED2,missense_variant,p.Gly189Ala,ENST00000375068,NM_177433.2;MAGED2,missense_variant,p.Gly171Ala,ENST00000347546,;MAGED2,missense_variant,p.Gly189Ala,ENST00000375053,;MAGED2,missense_variant,p.Gly189Ala,ENST00000375058,NM_014599.5;MAGED2,missense_variant,p.Gly189Ala,ENST00000396224,NM_201222.2;MAGED2,missense_variant,p.Gly189Ala,ENST00000218439,;MAGED2,missense_variant,p.Gly151Ala,ENST00000627068,;MAGED2,missense_variant,p.Gly151Ala,ENST00000375060,;SNORA11,upstream_gene_variant,,ENST00000408789,;MAGED2,non_coding_transcript_exon_variant,,ENST00000497484,;MAGED2,non_coding_transcript_exon_variant,,ENST00000463787,;MAGED2,downstream_gene_variant,,ENST00000485483,;MAGED2,upstream_gene_variant,,ENST00000487463,;MAGED2,upstream_gene_variant,,ENST00000487482,;	C	ENST00000375068	Transcript	missense_variant	799/2189	566/1821	189/606	G/A	gGc/gCc		1		1	MAGED2	HGNC	HGNC:16353	protein_coding	YES	CCDS14362.1	ENSP00000364209	Q9UNF1	A0A024R9Y7	UPI000000123B	NM_177433.2	tolerated(0.08)		4/13																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	54810849	54810849	G	C	1	0	0	0	0	1	0	0	0	9102	1203	42	4		4	MAGED2	23	54810849	Missense_Mutation	SNP	G	C3N-00560_TP	4432692	54810849	101230046	1303	19242											
ZC4H2	0	.	GRCh38	chrX	64921832	64921832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaccacattgatgtcagcGtggatcagtcggagttcctc	8	11	11	11	3	2	1	2	1	0	0	5	3	3	3	2	2	2	2	2	2	1	3	rs376951408		C3N-00560_TP	C3N-00560_NB	G	G																c.210C>A	p.His70Gln	p.H70Q	ENST00000374839	2/5	81	27	54	70	70	0	strelka-varscan-mutect	ZC4H2,missense_variant,p.His70Gln,ENST00000447788,NM_001178033.2;ZC4H2,missense_variant,p.His47Gln,ENST00000337990,NM_001178032.2,NM_001243804.1;ZC4H2,missense_variant,p.His70Gln,ENST00000374839,NM_018684.3;ZC4H2,non_coding_transcript_exon_variant,,ENST00000488608,;ZC4H2,non_coding_transcript_exon_variant,,ENST00000476032,;ZC4H2,non_coding_transcript_exon_variant,,ENST00000492653,;ZC4H2,non_coding_transcript_exon_variant,,ENST00000488831,;ZC4H2,upstream_gene_variant,,ENST00000488406,;	T	ENST00000374839	Transcript	missense_variant	317/2184	210/675	70/224	H/Q	caC/caA	rs376951408,COSM5505496,COSM5505497	1		-1	ZC4H2	HGNC	HGNC:24931	protein_coding	YES	CCDS14380.1	ENSP00000363972	Q9NQZ6		UPI0000025CAA	NM_018684.3	deleterious(0)		2/5		Pfam_domain:PF10146,hmmpanther:PTHR31058											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs376951408	.												T	3	4	57	64921832	64921832	G	T	1	0	0	0	0	1	0	0	0	18153	1136	40	1		1	ZC4H2	23	64921832	Missense_Mutation	SNP	G	C3N-00560_TP	10110983	64921832	91119063	1304	19243											
FAM155B	0	.	GRCh38	chrX	69505896	69505896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgacacctacacggtctGggacttgctgctgggcatgg	6	10	14	11	2	1	0	0	0	1	0	1	2	1	1	1	4	4	3	1	4	1	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.614G>T	p.Trp205Leu	p.W205L	ENST00000252338	1/3	253	99	154	253	253	0	strelka-varscan-mutect	FAM155B,missense_variant,p.Trp205Leu,ENST00000252338,NM_015686.2;	T	ENST00000252338	Transcript	missense_variant	656/4013	614/1419	205/472	W/L	tGg/tTg		1		1	FAM155B	HGNC	HGNC:30701	protein_coding	YES	CCDS35317.1	ENSP00000252338	O75949		UPI0000070EAA	NM_015686.2	tolerated(0.73)		1/3		hmmpanther:PTHR15819,hmmpanther:PTHR15819:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	69505896	69505896	G	T	1	0	0	0	0	1	0	0	0	5314	1357	47	2		2	FAM155B	23	69505896	Missense_Mutation	SNP	G	C3N-00560_TP	4584064	69505896	86534999	1305	19244											
TEX11	0	.	GRCh38	chrX	70651468	70651468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctctttcagagttgccctCtatgactgcaatcttgaata	10	14	6	11	0	4	3	1	2	3	1	4	3	4	3	2	0	2	2	2	0	4	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1510G>C	p.Glu504Gln	p.E504Q	ENST00000395889	18/31	60	22	38	58	58	0	strelka-varscan-mutect	TEX11,missense_variant,p.Glu504Gln,ENST00000395889,NM_001003811.1;TEX11,missense_variant,p.Glu489Gln,ENST00000374333,NM_031276.2;TEX11,missense_variant,p.Glu504Gln,ENST00000344304,;TEX11,missense_variant,p.Glu179Gln,ENST00000374320,;	G	ENST00000395889	Transcript	missense_variant	1666/3133	1510/2823	504/940	E/Q	Gag/Cag		1		-1	TEX11	HGNC	HGNC:11733	protein_coding	YES	CCDS35323.1	ENSP00000379226	Q8IYF3		UPI000013CA89	NM_001003811.1	tolerated(0.14)		18/31		Gene3D:1.25.40.10,Superfamily_domains:SSF48452																	MODERATE	1	SNV	2			1										PASS		rs1483378881	.												G	3	3	57	70651468	70651468	C	G	1	0	0	0	0	1	0	0	0	16195	922	32	4		4	TEX11	23	70651468	Missense_Mutation	SNP	C	C3N-00560_TP	1145572	70651468	85389427	1306	19245											
ZDHHC15	0	.	GRCh38	chrX	75505831	75505831	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcttacctttttctgcTgggctcaaaacagtcactgt	9	15	6	11	0	5	0	3	0	2	0	5	0	5	0	1	1	3	2	1	1	3	3	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.153A>T	p.=	p.P51P	ENST00000373367	2/12	76	31	45	71	71	0	strelka-varscan-mutect	ZDHHC15,synonymous_variant,p.=,ENST00000373367,NM_144969.2;ZDHHC15,intron_variant,,ENST00000541184,NM_001146256.1;ZDHHC15,intron_variant,,ENST00000482827,;	A	ENST00000373367	Transcript	synonymous_variant	384/5796	153/1014	51/337	P	ccA/ccT		1		-1	ZDHHC15	HGNC	HGNC:20342	protein_coding	YES	CCDS14430.1	ENSP00000362465	Q96MV8		UPI000006DB5A	NM_144969.2			2/12		hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF68																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	75505831	75505831	T	A	1	0	0	0	0	0	0	0	1	18181	1567	55	4		4	ZDHHC15	23	75505831	Silent	SNP	T	C3N-00560_TP	4854363	75505831	80535064	1307	19246											
FAM46D	0	.	GRCh38	chrX	80442999	80442999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccctttcaaataacactGggaagaatttagaactaaaa	17	11	5	8	0	2	2	1	0	1	2	3	3	2	3	1	1	2	0	1	1	8	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.460G>A	p.Gly154Arg	p.G154R	ENST00000538312	5/5	121	56	65	117	117	0	strelka-varscan-mutect	FAM46D,missense_variant,p.Gly154Arg,ENST00000538312,NM_001170574.1;FAM46D,missense_variant,p.Gly154Arg,ENST00000308293,NM_152630.4;	A	ENST00000538312	Transcript	missense_variant	794/3106	460/1170	154/389	G/R	Ggg/Agg		1		1	FAM46D	HGNC	HGNC:28399	protein_coding	YES	CCDS14446.1	ENSP00000443410	Q8NEK8		UPI0000073CF3	NM_001170574.1	deleterious(0.01)		5/5		hmmpanther:PTHR12974:SF30,hmmpanther:PTHR12974,Pfam_domain:PF07984,SMART_domains:SM01153																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	57	80442999	80442999	G	A	1	0	0	0	0	1	0	0	0	5446	1348	47	3		3	FAM46D	23	80442999	Missense_Mutation	SNP	G	C3N-00560_TP	4937168	80442999	75597896	1308	19247											
SATL1	0	.	GRCh38	chrX	85107587	85107587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcttacttgattggctaGtgcctggttgtctcatgcct	4	17	11	9	0	2	1	1	1	2	0	3	1	2	1	2	3	3	3	2	3	2	6	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1382C>A	p.Thr461Asn	p.T461N	ENST00000509231	1/5	168	61	107	153	153	0	strelka-varscan-mutect	SATL1,missense_variant,p.Thr461Asn,ENST00000509231,NM_001012980.2;SATL1,missense_variant,p.Thr274Asn,ENST00000395409,;	T	ENST00000509231	Transcript	missense_variant	1462/2224	1382/1899	461/632	T/N	aCt/aAt		1		-1	SATL1	HGNC	HGNC:27992	protein_coding	YES	CCDS35343.2	ENSP00000425421	Q86VE3		UPI000041ABBC	NM_001012980.2	tolerated(0.33)		1/5		hmmpanther:PTHR10545,hmmpanther:PTHR10545:SF28																	MODERATE	1	SNV	1			1										PASS		rs1185598409	.												T	3	4	57	85107587	85107587	G	T	1	0	0	0	0	1	0	0	0	14116	1029	36	2		2	SATL1	23	85107587	Missense_Mutation	SNP	G	C3N-00560_TP	4664588	85107587	70933308	1309	19248											
PCDH11X	0	.	GRCh38	chrX	91835911	91835911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagatataaatgataatgCaccattgttcccagcaacag	17	9	7	8	0	0	3	0	1	0	2	1	3	1	3	2	0	3	3	2	0	6	5	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.407C>A	p.Ala136Glu	p.A136E	ENST00000373094	1/7	155	70	85	152	151	1	strelka-varscan-mutect	PCDH11X,missense_variant,p.Ala136Glu,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Ala136Glu,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Ala136Glu,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Ala136Glu,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Ala136Glu,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Ala136Glu,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Ala136Glu,ENST00000395337,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000298274,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000361724,;	A	ENST00000373094	Transcript	missense_variant	1252/9179	407/4044	136/1347	A/E	gCa/gAa		1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4	deleterious(0)		1/7		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF25,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	91835911	91835911	C	A	1	0	0	0	0	1	0	0	0	11595	710	25	2		2	PCDH11X	23	91835911	Missense_Mutation	SNP	C	C3N-00560_TP	6728324	91835911	64204984	1310	19249											
PCDH11X	0	.	GRCh38	chrX	91876961	91876961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcaagtgagtgttactGatacaaatgacaaccaccca	14	11	7	9	0	0	3	0	3	0	0	0	3	0	3	2	0	4	2	2	0	5	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.721G>T	p.Asp241Tyr	p.D241Y	ENST00000373094	2/7	266	109	157	295	294	1	strelka-varscan-mutect	PCDH11X,missense_variant,p.Asp241Tyr,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Asp241Tyr,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Asp241Tyr,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Asp241Tyr,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Asp241Tyr,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Asp241Tyr,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Asp241Tyr,ENST00000395337,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000298274,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000361724,;	T	ENST00000373094	Transcript	missense_variant	1566/9179	721/4044	241/1347	D/Y	Gat/Tat		1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4	deleterious(0)		2/7		Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF25,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	91876961	91876961	G	T	1	0	0	0	0	1	0	0	0	11595	1290	45	2		2	PCDH11X	23	91876961	Missense_Mutation	SNP	G	C3N-00560_TP	41050	91876961	64163934	1311	19250											
PCDH11X	0	.	GRCh38	chrX	92618544	92618544	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccaccaccgatacaggtGtctgctctccaccacagtcc	9	7	7	18	1	2	0	0	0	2	0	4	1	3	0	6	1	3	1	6	1	1	1	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.3648G>A	p.=	p.V1216V	ENST00000373094	7/7	528	218	310	510	510	0	strelka-varscan-mutect	PCDH11X,synonymous_variant,p.=,ENST00000373094,NM_032968.4;PCDH11X,synonymous_variant,p.=,ENST00000373097,NM_032969.4;PCDH11X,synonymous_variant,p.=,ENST00000406881,NM_001168360.1;PCDH11X,synonymous_variant,p.=,ENST00000361655,NM_001168363.1;PCDH11X,synonymous_variant,p.=,ENST00000373088,NM_001168362.1;PCDH11X,3_prime_UTR_variant,,ENST00000504220,NM_001168361.1;	A	ENST00000373094	Transcript	synonymous_variant	4493/9179	3648/4044	1216/1347	V	gtG/gtA		1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4			7/7																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	92618544	92618544	G	A	1	0	0	0	0	0	0	0	1	11595	1364	48	3		3	PCDH11X	23	92618544	Silent	SNP	G	C3N-00560_TP	741583	92618544	63422351	1312	19251											
PCDH19	0	.	GRCh38	chrX	100406777	100406777	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccgcggtcgccctcggtCatgtcgtaggtgactcggcc	5	8	14	14	6	1	1	1	1	0	0	5	1	1	1	3	4	1	1	3	4	2	1			C3N-00560_TP	C3N-00560_NB	C	C																c.1821G>T	p.Met607Ile	p.M607I	ENST00000373034	1/6	400	151	249	332	331	1	strelka-varscan-mutect	PCDH19,missense_variant,p.Met607Ile,ENST00000373034,NM_001184880.1;PCDH19,missense_variant,p.Met607Ile,ENST00000255531,NM_001105243.1;PCDH19,missense_variant,p.Met607Ile,ENST00000420881,NM_020766.2;PCDH19,upstream_gene_variant,,ENST00000636150,;	A	ENST00000373034	Transcript	missense_variant	3497/9756	1821/3447	607/1148	M/I	atG/atT	COSM3564173,COSM3564174	1		-1	PCDH19	HGNC	HGNC:14270	protein_coding	YES	CCDS55462.1	ENSP00000362125	Q8TAB3		UPI00001D7BCD	NM_001184880.1	tolerated(1)		1/6		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF40,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	57	100406777	100406777	C	A	1	0	0	0	0	1	0	0	0	11601	826	29	2		2	PCDH19	23	100406777	Missense_Mutation	SNP	C	C3N-00560_TP	7788233	100406777	55634118	1313	19252											
SYTL4	0	.	GRCh38	chrX	100690130	100690130	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatcatctcaccctcatcCacaaataccacattttgacc	14	11	1	15	0	3	1	3	1	1	0	5	1	4	1	4	0	1	0	4	0	4	4	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.753G>T	p.=	p.V251V	ENST00000372989	10/19	82	33	49	88	88	0	strelka-varscan-mutect	SYTL4,synonymous_variant,p.=,ENST00000372981,;SYTL4,synonymous_variant,p.=,ENST00000372989,NM_080737.2;SYTL4,synonymous_variant,p.=,ENST00000276141,NM_001174068.1;SYTL4,synonymous_variant,p.=,ENST00000263033,NM_001129896.2;	A	ENST00000372989	Transcript	synonymous_variant	1085/3885	753/2016	251/671	V	gtG/gtT		1		-1	SYTL4	HGNC	HGNC:15588	protein_coding	YES	CCDS14472.1	ENSP00000362080	Q96C24	A0A024RCF8	UPI00001AE9F2	NM_080737.2			10/19		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF9																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	57	100690130	100690130	C	A	1	0	0	0	0	0	0	0	1	15879	581	21	2		2	SYTL4	23	100690130	Silent	SNP	C	C3N-00560_TP	283353	100690130	55350765	1314	19253											
ARMCX4	0	.	GRCh38	chrX	101493326	101493326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacctggatttgaggatcaGgccattggaggggggttctg	9	10	16	6	0	2	1	1	1	1	0	2	4	2	4	2	7	1	1	2	7	1	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.4737G>T	p.Gln1579His	p.Q1579H	ENST00000423738	2/2	92	28	64	81	81	0	strelka-varscan-mutect	ARMCX4,missense_variant,p.Gln1579His,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000455331,;	T	ENST00000423738	Transcript	missense_variant	4939/7424	4737/6873	1579/2290	Q/H	caG/caT		1		1	ARMCX4	HGNC	HGNC:28615	protein_coding	YES	CCDS59170.1	ENSP00000404304		F8W8Y7	UPI000442CF06	NM_001256155.2	deleterious(0)		2/2																			MODERATE	1	SNV	5			1										PASS		rs1041030727	.												T	3	4	57	101493326	101493326	G	T	1	0	0	0	0	1	0	0	0	1102	991	35	2		2	ARMCX4	23	101493326	Missense_Mutation	SNP	G	C3N-00560_TP	803196	101493326	54547569	1315	19254											
H2BFM	0	.	GRCh38	chrX	104040843	104040843	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaacttcattatgtgcGatatggcaacagagaaagtg	14	10	10	7	1	1	2	1	0	0	2	2	4	2	2	1	1	3	1	1	1	5	3	rs782543925		C3N-00560_TP	C3N-00560_NB	G	G																c.444G>T	p.=	p.A148A	ENST00000355016	2/3	97	41	56	93	92	1	strelka-varscan-mutect	H2BFM,synonymous_variant,p.=,ENST00000355016,NM_001164416.1;H2BFM,synonymous_variant,p.=,ENST00000417637,;H2BFM,synonymous_variant,p.=,ENST00000598335,;	T	ENST00000355016	Transcript	synonymous_variant	472/1882	444/465	148/154	A	gcG/gcT	rs782543925,COSM1112347,COSM1598637	1		1	H2BFM	HGNC	HGNC:27867	protein_coding	YES	CCDS55468.1	ENSP00000347119	P0C1H6	W0TYI6	UPI0000161AB5	NM_001164416.1			2/3		hmmpanther:PTHR23428,hmmpanther:PTHR23428:SF34											0,1,1						LOW	1	SNV	2		0,1,1	1										PASS		rs782543925	.												T	2	4	57	104040843	104040843	G	T	1	0	0	0	0	0	0	0	1	6813	1045	37	1		1	H2BFM	23	104040843	Silent	SNP	G	C3N-00560_TP	2547517	104040843	52000052	1316	19255											
NRK	0	.	GRCh38	chrX	105909266	105909266	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaacaacagcagaggcAcaaccaggtgcctgaacaag	15	3	10	13	0	0	3	0	2	0	1	0	3	0	3	3	2	6	2	3	2	5	0	novel		C3N-00560_TP	C3N-00560_NB	A	A																c.1625A>T	p.His542Leu	p.H542L	ENST00000243300	13/29	113	44	69	130	130	0	strelka-varscan-mutect	NRK,missense_variant,p.His542Leu,ENST00000243300,NM_198465.3;NRK,3_prime_UTR_variant,,ENST00000428173,;	T	ENST00000243300	Transcript	missense_variant	1928/8062	1625/4749	542/1582	H/L	cAc/cTc		1		1	NRK	HGNC	HGNC:25391	protein_coding	YES	CCDS65305.1	ENSP00000434830	Q7Z2Y5		UPI0000418886	NM_198465.3	deleterious(0.02)		13/29		hmmpanther:PTHR24361:SF417,hmmpanther:PTHR24361,Gene3D:1.10.510.10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	105909266	105909266	A	T	1	0	0	0	0	1	0	0	0	10713	159	6	4		4	NRK	23	105909266	Missense_Mutation	SNP	A	C3N-00560_TP	1868423	105909266	50131629	1317	19256											
NRK	0	.	GRCh38	chrX	105909542	105909542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaacccccacaggcaattgGctcagttcaagcactgatag	13	7	9	12	0	2	2	2	1	0	1	2	2	2	2	2	2	2	4	2	2	4	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1901G>T	p.Gly634Val	p.G634V	ENST00000243300	13/29	115	43	72	105	105	0	strelka-varscan-mutect	NRK,missense_variant,p.Gly634Val,ENST00000243300,NM_198465.3;NRK,3_prime_UTR_variant,,ENST00000428173,;	T	ENST00000243300	Transcript	missense_variant	2204/8062	1901/4749	634/1582	G/V	gGc/gTc		1		1	NRK	HGNC	HGNC:25391	protein_coding	YES	CCDS65305.1	ENSP00000434830	Q7Z2Y5		UPI0000418886	NM_198465.3	deleterious(0)		13/29		hmmpanther:PTHR24361:SF417,hmmpanther:PTHR24361																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	105909542	105909542	G	T	1	0	0	0	0	1	0	0	0	10713	1203	42	2		2	NRK	23	105909542	Missense_Mutation	SNP	G	C3N-00560_TP	276	105909542	50131353	1318	19257											
ZCCHC16	0	.	GRCh38	chrX	112455565	112455565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagcaagaaactcagttGtgcctctactgcagccaatc	11	8	8	14	1	2	1	1	0	1	1	3	1	2	1	3	0	6	3	3	0	4	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.837G>T	p.Leu279Phe	p.L279F	ENST00000340433	1/1	118	60	58	109	109	0	strelka-varscan-mutect	ZCCHC16,missense_variant,p.Leu279Phe,ENST00000340433,NM_001004308.2;	T	ENST00000340433	Transcript	missense_variant	1066/2613	837/933	279/310	L/F	ttG/ttT		1		1	ZCCHC16	HGNC	HGNC:25214	protein_coding	YES	CCDS35369.1	ENSP00000340590	Q6ZR62		UPI00001975B5	NM_001004308.2	deleterious(0.03)		1/1		hmmpanther:PTHR15503:SF8,hmmpanther:PTHR15503,Gene3D:4.10.60.10,Superfamily_domains:SSF57756																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	57	112455565	112455565	G	T	1	0	0	0	0	1	0	0	0	18159	1368	48	2		2	ZCCHC16	23	112455565	Missense_Mutation	SNP	G	C3N-00560_TP	6546023	112455565	43585330	1319	19258											
KIAA1210	0	.	GRCh38	chrX	119087444	119087444	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggcctccccaaggactgTaaagggtgcttcataggtag	10	9	12	10	0	2	0	2	0	0	0	3	1	3	1	3	4	1	3	3	4	5	4	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.3786A>G	p.=	p.L1262L	ENST00000402510	11/14	80	20	60	86	86	0	strelka-varscan-mutect	KIAA1210,synonymous_variant,p.=,ENST00000402510,NM_020721.1;	C	ENST00000402510	Transcript	synonymous_variant	3786/7824	3786/5130	1262/1709	L	ttA/ttG		1		-1	KIAA1210	HGNC	HGNC:29218	protein_coding	YES	CCDS48156.1	ENSP00000384670	Q9ULL0		UPI0001596C4C	NM_020721.1			11/14		hmmpanther:PTHR22118:SF15,hmmpanther:PTHR22118																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	57	119087444	119087444	T	C	1	0	0	0	0	0	0	0	1	8106	1635	57	5		5	KIAA1210	23	119087444	Silent	SNP	T	C3N-00560_TP	6631879	119087444	36953451	1320	19259											
KIAA1210	0	.	GRCh38	chrX	119088091	119088091	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatctgggaggcagcggttCcacataagtgccttcctcaa	9	9	11	12	1	2	0	1	0	1	0	4	1	4	1	3	3	2	3	3	3	2	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.3139G>T	p.Glu1047Ter	p.E1047*	ENST00000402510	11/14	161	72	89	122	122	0	strelka-varscan-mutect	KIAA1210,stop_gained,p.Glu1047Ter,ENST00000402510,NM_020721.1;	A	ENST00000402510	Transcript	stop_gained	3139/7824	3139/5130	1047/1709	E/*	Gaa/Taa		1		-1	KIAA1210	HGNC	HGNC:29218	protein_coding	YES	CCDS48156.1	ENSP00000384670	Q9ULL0		UPI0001596C4C	NM_020721.1			11/14		hmmpanther:PTHR22118:SF15,hmmpanther:PTHR22118																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	57	119088091	119088091	C	A	1	0	0	0	0	0	1	0	0	8106	864	30	2		2	KIAA1210	23	119088091	Nonsense_Mutation	SNP	C	C3N-00560_TP	647	119088091	36952804	1321	19260											
TMEM255A	0	.	GRCh38	chrX	120268308	120268308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtaggtattgtaggatGccacttggggatgagcatag	10	11	16	4	0	0	1	0	1	0	0	0	3	0	3	1	5	2	5	1	5	5	7	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.827C>G	p.Ala276Gly	p.A276G	ENST00000309720	9/10	83	37	46	83	83	0	strelka-varscan-mutect	TMEM255A,missense_variant,p.Ala252Gly,ENST00000371369,NM_001104544.1;TMEM255A,missense_variant,p.Ala276Gly,ENST00000309720,NM_017938.3;TMEM255A,missense_variant,p.Ala168Gly,ENST00000440464,NM_001104545.1;TMEM255A,missense_variant,p.Ala112Gly,ENST00000371352,;TMEM255A,downstream_gene_variant,,ENST00000519908,;RP11-45J1.1,upstream_gene_variant,,ENST00000439244,;	C	ENST00000309720	Transcript	missense_variant	951/3394	827/1050	276/349	A/G	gCa/gGa		1		-1	TMEM255A	HGNC	HGNC:26086	protein_coding	YES	CCDS14597.1	ENSP00000310110	Q5JRV8		UPI0000246DA1	NM_017938.3	deleterious(0.02)		9/10		Pfam_domain:PF14967,hmmpanther:PTHR33721,hmmpanther:PTHR33721:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	120268308	120268308	G	C	1	0	0	0	0	1	0	0	0	16614	1319	46	4		4	TMEM255A	23	120268308	Missense_Mutation	SNP	G	C3N-00560_TP	1180217	120268308	35772587	1322	19261											
LAMP2	0	.	GRCh38	chrX	120447920	120447920	+	Missense_Mutation	SNP	C	C	A																															cattattaactgaataggttCcagcttctggtttttccttt																										C3N-00560_TP	C3N-00560_NB	C	C																c.662G>T	p.Gly221Val	p.G221V	ENST00000434600	5/9	114	50	64	121	121	0	strelka-varscan-mutect	LAMP2,missense_variant,p.Gly221Val,ENST00000371335,NM_013995.2;LAMP2,missense_variant,p.Gly221Val,ENST00000434600,NM_001122606.1;LAMP2,missense_variant,p.Gly221Val,ENST00000200639,NM_002294.2;LAMP2,missense_variant,p.Gly69Val,ENST00000486593,;	A	ENST00000434600	Transcript	missense_variant	858/2089	662/1236	221/411	G/V	gGa/gTa	COSM3363786,COSM3363787,COSM3363788	1		-1	LAMP2	HGNC	HGNC:6501	protein_coding	YES	CCDS48159.1	ENSP00000408411	P13473		UPI0000211E47	NM_001122606.1	deleterious(0)		5/9		PROSITE_profiles:PS51407,hmmpanther:PTHR11506,hmmpanther:PTHR11506:SF6,Pfam_domain:PF01299,Prints_domain:PR00336											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	57	120447920	120447920	C	A	1	0	0	0	0	1	0	0	0	8522	855	30	2		2	LAMP2	23	120447920	Missense_Mutation	SNP	C	C3N-00560_TP	179612	120447920	35592975	1323	19262	411	2									
LAMP2	0	.	GRCh38	chrX	120447921	120447921	+	Missense_Mutation	SNP	C	C	G																															attattaactgaataggttcCagcttctggtttttcctttg																								rs145169006		C3N-00560_TP	C3N-00560_NB	C	C																c.661G>C	p.Gly221Arg	p.G221R	ENST00000434600	5/9	114	52	62	121	121	0	strelka-varscan-mutect	LAMP2,missense_variant,p.Gly221Arg,ENST00000371335,NM_013995.2;LAMP2,missense_variant,p.Gly221Arg,ENST00000434600,NM_001122606.1;LAMP2,missense_variant,p.Gly221Arg,ENST00000200639,NM_002294.2;LAMP2,missense_variant,p.Gly69Arg,ENST00000486593,;	G	ENST00000434600	Transcript	missense_variant	857/2089	661/1236	221/411	G/R	Gga/Cga	rs145169006	1		-1	LAMP2	HGNC	HGNC:6501	protein_coding	YES	CCDS48159.1	ENSP00000408411	P13473		UPI0000211E47	NM_001122606.1	deleterious(0)		5/9		PROSITE_profiles:PS51407,hmmpanther:PTHR11506,hmmpanther:PTHR11506:SF6,Pfam_domain:PF01299,Prints_domain:PR00336										likely_benign							MODERATE	1	SNV	1		1	1										PASS		rs145169006	.												G	3	3	57	120447921	120447921	C	G	1	0	0	0	0	1	0	0	0	8522	603	21	4		4	LAMP2	23	120447921	Missense_Mutation	SNP	C	C3N-00560_TP	1	120447921	35592974	1324	19263	411	2									
TEX13C	0	.	GRCh38	chrX	125320287	125320287	+	Missense_Mutation	SNP	C	C	A																															cttcgggccattgtggccgaCccgcgggtgccccgtgccat																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.168C>A	p.Asp56Glu	p.D56E	ENST00000632600	1/1	94	43	51	99	99	0	strelka-varscan-mutect	TEX13C,missense_variant,p.Asp56Glu,ENST00000632600,NM_001195272.1;	A	ENST00000632600	Transcript	missense_variant	168/5095	168/2982	56/993	D/E	gaC/gaA		1		1	TEX13C	HGNC	HGNC:52277	protein_coding	YES		ENSP00000488022	A0A0J9YWL9		UPI000016014C	NM_001195272.1	deleterious(0.01)		1/1		hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF32,Pfam_domain:PF15186																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	57	125320287	125320287	C	A	1	0	0	0	0	1	0	0	0	16199	506	18	2		2	TEX13C	23	125320287	Missense_Mutation	SNP	C	C3N-00560_TP	4872366	125320287	30720608	1325	19264	412	2									
TEX13C	0	.	GRCh38	chrX	125320288	125320288	+	Missense_Mutation	SNP	C	C	A																															ttcgggccattgtggccgacCcgcgggtgccccgtgccatt																								novel		C3N-00560_TP	C3N-00560_NB	C	C																c.169C>A	p.Pro57Thr	p.P57T	ENST00000632600	1/1	95	42	53	101	101	0	strelka-varscan-mutect	TEX13C,missense_variant,p.Pro57Thr,ENST00000632600,NM_001195272.1;	A	ENST00000632600	Transcript	missense_variant	169/5095	169/2982	57/993	P/T	Ccg/Acg		1		1	TEX13C	HGNC	HGNC:52277	protein_coding	YES		ENSP00000488022	A0A0J9YWL9		UPI000016014C	NM_001195272.1	deleterious(0.01)		1/1		hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF32,Pfam_domain:PF15186																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	57	125320288	125320288	C	A	1	0	0	0	0	1	0	0	0	16199	623	22	2		2	TEX13C	23	125320288	Missense_Mutation	SNP	C	C3N-00560_TP	1	125320288	30720607	1326	19265	412	2									
TEX13C	0	.	GRCh38	chrX	125321611	125321611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaggagatggtccccctgGgggaaagccacagccacagc	11	3	13	14	0	0	1	0	0	0	1	1	3	1	2	5	4	3	0	5	4	2	0	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1492G>T	p.Gly498Trp	p.G498W	ENST00000632600	1/1	281	126	155	229	229	0	strelka-varscan-mutect	TEX13C,missense_variant,p.Gly498Trp,ENST00000632600,NM_001195272.1;	T	ENST00000632600	Transcript	missense_variant	1492/5095	1492/2982	498/993	G/W	Ggg/Tgg		1		1	TEX13C	HGNC	HGNC:52277	protein_coding	YES		ENSP00000488022	A0A0J9YWL9		UPI000016014C	NM_001195272.1	tolerated(0.05)		1/1																			MODERATE	1	SNV				1										PASS		.	.												T	3	4	57	125321611	125321611	G	T	1	0	0	0	0	1	0	0	0	16199	1232	43	2		2	TEX13C	23	125321611	Missense_Mutation	SNP	G	C3N-00560_TP	1323	125321611	30719284	1327	19266											
PRR32	0	.	GRCh38	chrX	126821118	126821118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtaataacgcaaggttGcatgtagctttgccacaagg	12	9	12	8	1	0	0	0	0	0	0	0	0	0	0	1	3	4	7	1	3	5	5	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.480G>T	p.Leu160Phe	p.L160F	ENST00000371125	2/2	90	41	49	105	105	0	strelka-varscan-mutect	PRR32,missense_variant,p.Leu160Phe,ENST00000371125,NM_001122716.1;	T	ENST00000371125	Transcript	missense_variant	560/1228	480/897	160/298	L/F	ttG/ttT		1		1	PRR32	HGNC	HGNC:34498	protein_coding	YES	CCDS48163.1	ENSP00000360166	B1ATL7		UPI00004A3B00	NM_001122716.1	tolerated(0.28)		2/2		Pfam_domain:PF15488,hmmpanther:PTHR37343,hmmpanther:PTHR37343:SF1																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	57	126821118	126821118	G	T	1	0	0	0	0	1	0	0	0	12738	1310	46	2		2	PRR32	23	126821118	Missense_Mutation	SNP	G	C3N-00560_TP	1499507	126821118	29219777	1328	19267											
IGSF1	0	.	GRCh38	chrX	131283213	131283213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagattcaggctttctccaGgtgccatgatgggcccagga	8	10	13	10	0	2	2	1	2	1	1	3	4	2	3	3	4	1	1	3	4	0	2	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.719C>A	p.Pro240His	p.P240H	ENST00000370903	6/20	119	39	80	73	73	0	strelka-varscan-mutect	IGSF1,missense_variant,p.Pro231His,ENST00000370904,;IGSF1,missense_variant,p.Pro240His,ENST00000370903,NM_001170961.1;IGSF1,missense_variant,p.Pro231His,ENST00000370910,NM_001170962.1;IGSF1,missense_variant,p.Pro240His,ENST00000361420,NM_001555.4;IGSF1,downstream_gene_variant,,ENST00000370901,NM_205833.3;IGSF1,downstream_gene_variant,,ENST00000370900,NM_001170963.1;IGSF1,upstream_gene_variant,,ENST00000469836,;	T	ENST00000370903	Transcript	missense_variant	1002/4594	719/4026	240/1341	P/H	cCt/cAt		1		-1	IGSF1	HGNC	HGNC:5948	protein_coding	YES	CCDS55491.1	ENSP00000359940	Q8N6C5		UPI0000E0C769	NM_001170961.1	deleterious(0)		6/20		Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	57	131283213	131283213	G	T	1	0	0	0	0	1	0	0	0	7503	1000	35	2		2	IGSF1	23	131283213	Missense_Mutation	SNP	G	C3N-00560_TP	4462095	131283213	24757682	1329	19268											
USP26	0	.	GRCh38	chrX	133026900	133026900	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatggagtgcaacaactCtaactcaaaattagtaatga	18	9	7	7	0	2	1	1	1	1	0	2	2	2	2	0	1	5	3	0	1	8	3	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.1321G>T	p.Glu441Ter	p.E441*	ENST00000511190	6/6	285	106	179	281	280	1	strelka-varscan-mutect	USP26,stop_gained,p.Glu441Ter,ENST00000511190,;USP26,stop_gained,p.Glu441Ter,ENST00000370832,NM_031907.1;	A	ENST00000511190	Transcript	stop_gained	1791/3665	1321/2742	441/913	E/*	Gag/Tag		1		-1	USP26	HGNC	HGNC:13485	protein_coding	YES	CCDS14635.1	ENSP00000423390	Q9BXU7		UPI00000421FD				6/6		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF390,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	57	133026900	133026900	C	A	1	0	0	0	0	0	1	0	0	17598	922	32	2		2	USP26	23	133026900	Nonsense_Mutation	SNP	C	C3N-00560_TP	1743687	133026900	23013995	1330	19269											
HTATSF1	0	.	GRCh38	chrX	136509099	136509099	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catatttttcaggatgatccGttggtgctgaatgagatcag	10	14	11	6	1	2	3	2	3	0	1	3	5	3	4	1	2	1	2	1	2	2	4	rs752281014		C3N-00560_TP	C3N-00560_NB	G	G																c.843G>T	p.=	p.P281P	ENST00000535601	8/10	95	38	57	67	67	0	strelka-varscan-mutect	HTATSF1,synonymous_variant,p.=,ENST00000535601,NM_001163280.1;HTATSF1,synonymous_variant,p.=,ENST00000218364,NM_014500.4;	T	ENST00000535601	Transcript	synonymous_variant	1265/3019	843/2268	281/755	P	ccG/ccT	rs752281014	1		1	HTATSF1	HGNC	HGNC:5276	protein_coding	YES	CCDS14657.1	ENSP00000442699	O43719		UPI000006D876	NM_001163280.1			8/10		Gene3D:3.30.70.330,PROSITE_profiles:PS50102,hmmpanther:PTHR15608,SMART_domains:SM00360																	LOW	1	SNV	1			1										PASS		rs752281014	.												T	2	4	57	136509099	136509099	G	T	1	0	0	0	0	0	0	0	1	7329	1132	40	1		1	HTATSF1	23	136509099	Silent	SNP	G	C3N-00560_TP	3482199	136509099	19531796	1331	19270											
MAGEC1	0	.	GRCh38	chrX	141908061	141908061	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttcctcagacaccttgcTagagagtgattccttgacag	11	11	9	10	0	1	4	1	2	0	2	3	5	3	4	3	0	1	2	3	0	2	5	novel		C3N-00560_TP	C3N-00560_NB	T	T																c.2657T>C	p.Leu886Pro	p.L886P	ENST00000285879	4/4	86	26	60	66	66	0	strelka-varscan-mutect	MAGEC1,missense_variant,p.Leu886Pro,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,;	C	ENST00000285879	Transcript	missense_variant	2943/4270	2657/3429	886/1142	L/P	cTa/cCa		1		1	MAGEC1	HGNC	HGNC:6812	protein_coding	YES	CCDS35417.1	ENSP00000285879	O60732		UPI000006F2FD	NM_005462.4	deleterious_low_confidence(0)		4/4		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	57	141908061	141908061	T	C	1	0	0	0	0	1	0	0	0	9098	1522	53	5		5	MAGEC1	23	141908061	Missense_Mutation	SNP	T	C3N-00560_TP	5398962	141908061	14132834	1332	19271											
SPANXN2	0	.	GRCh38	chrX	143712271	143712271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaagatccttcagatgagtCcaggtcttcgtcctcctgtg	7	13	10	11	1	2	4	1	2	1	2	7	4	6	4	4	1	0	0	4	1	1	2	novel		C3N-00560_TP	C3N-00560_NB	C	C																c.307G>T	p.Asp103Tyr	p.D103Y	ENST00000598475	2/2	277	107	170	296	295	1	strelka-varscan-mutect	SPANXN2,missense_variant,p.Asp103Tyr,ENST00000598475,NM_001009615.2;	A	ENST00000598475	Transcript	missense_variant	1062/1378	307/543	103/180	D/Y	Gac/Tac		1		-1	SPANXN2	HGNC	HGNC:33175	protein_coding	YES	CCDS35419.1	ENSP00000470584	Q5MJ10		UPI000049D98C	NM_001009615.2	tolerated(0.07)		2/2		hmmpanther:PTHR23425,hmmpanther:PTHR23425:SF5,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	57	143712271	143712271	C	A	1	0	0	0	0	1	0	0	0	15322	855	30	2		2	SPANXN2	23	143712271	Missense_Mutation	SNP	C	C3N-00560_TP	1804210	143712271	12328624	1333	19272											
PNMA3	0	.	GRCh38	chrX	153058296	153058296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggaaacgccacacattctGctatagctgtggggaagacg	12	7	12	10	3	1	1	0	0	1	1	1	3	1	3	1	3	3	2	1	3	4	3	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1241G>T	p.Cys414Phe	p.C414F	ENST00000593810	1/1	170	47	123	159	159	0	strelka-varscan-mutect	PNMA3,missense_variant,p.Cys414Phe,ENST00000619635,NM_001282535.1;PNMA3,missense_variant,p.Cys414Phe,ENST00000593810,NM_013364.5;PNMA3,missense_variant,p.Cys414Phe,ENST00000424805,;	T	ENST00000593810	Transcript	missense_variant	1261/1432	1241/1392	414/463	C/F	tGc/tTc		1		1	PNMA3	HGNC	HGNC:18742	protein_coding	YES	CCDS35435.2	ENSP00000469445	Q9UL41		UPI0000070F18	NM_013364.5	tolerated(0.27)		1/1		PROSITE_profiles:PS50158,hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF22,Superfamily_domains:SSF57756																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	57	153058296	153058296	G	T	1	0	0	0	0	1	0	0	0	12262	1319	46	2		2	PNMA3	23	153058296	Missense_Mutation	SNP	G	C3N-00560_TP	9346025	153058296	2982599	1334	19273											
TMLHE	0	.	GRCh38	chrX	155491631	155491631	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccagtgaagcattccctGccatgtaggacacgccagtt	10	9	10	12	1	0	1	0	1	0	0	1	2	1	2	4	1	3	3	4	1	3	4	novel		C3N-00560_TP	C3N-00560_NB	G	G																c.1170C>A	p.=	p.G390G	ENST00000334398	8/8	43	27	16	26	26	0	varscan-mutect	TMLHE,synonymous_variant,p.=,ENST00000334398,NM_018196.3;TMLHE,downstream_gene_variant,,ENST00000369439,NM_001184797.1;TMLHE-AS1,intron_variant,,ENST00000433624,;TMLHE-AS1,intron_variant,,ENST00000452506,;RP11-218L14.4,downstream_gene_variant,,ENST00000447347,;TMLHE,non_coding_transcript_exon_variant,,ENST00000449645,;	T	ENST00000334398	Transcript	synonymous_variant	1316/2832	1170/1266	390/421	G	ggC/ggA		1		-1	TMLHE	HGNC	HGNC:18308	protein_coding	YES	CCDS14768.1	ENSP00000335261	Q9NVH6		UPI000013707B	NM_018196.3			8/8		hmmpanther:PTHR10696:SF3,hmmpanther:PTHR10696,Gene3D:3.60.130.10,Pfam_domain:PF02668,TIGRFAM_domain:TIGR02410,Superfamily_domains:SSF51197																	LOW	1	SNV	1			1										PASS		rs1236434929	.												T	2	4	57	155491631	155491631	G	T	1	0	0	0	0	0	0	0	1	16708	1306	46	2		2	TMLHE	23	155491631	Silent	SNP	G	C3N-00560_TP	2433335	155491631	549264	1335	19274											
TBCE	0	.	GRCh38	chr1	235414585	235414585	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaataaacctgtggagaCtatcggttttgactctatta	12	14	9	6	1	1	2	0	1	1	1	2	4	1	3	1	3	1	1	1	3	6	6	rs766820945		C3N-00572_TP	C3N-00572_NB	C	C																c.338C>G	p.Thr113Ser	p.T113S	ENST00000543662	4/18	354	299	55	417	417	0	strelka-varscan-mutect	TBCE,missense_variant,p.Thr113Ser,ENST00000543662,NM_001287801.1;TBCE,missense_variant,p.Thr113Ser,ENST00000406207,NM_001079515.2;TBCE,missense_variant,p.Thr113Ser,ENST00000366601,NM_001287802.1,NM_003193.4;TBCE,non_coding_transcript_exon_variant,,ENST00000472011,;TBCE,non_coding_transcript_exon_variant,,ENST00000482230,;TBCE,upstream_gene_variant,,ENST00000461651,;	G	ENST00000543662	Transcript	missense_variant	514/2117	338/1737	113/578	T/S	aCt/aGt	rs766820945	1		1	TBCE	HGNC	HGNC:11582	protein_coding	YES	CCDS73052.1	ENSP00000439170	Q15813		UPI0001914D1A	NM_001287801.1	tolerated(0.4)		4/18		hmmpanther:PTHR15140:SF13,hmmpanther:PTHR15140,Superfamily_domains:SSF52047,Superfamily_domains:SSF74924																	MODERATE	1	SNV	2			1										PASS		rs766820945	.												G	3	3	58	235414585	235414585	C	G	1	0	0	0	0	1	0	0	0	16039	565	20	4		4	TBCE	1	235414585	Missense_Mutation	SNP	C	C3N-00572_TP		235414585	13541837	1	19275											
HEATR1	0	.	GRCh38	chr1	236554609	236554609	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggttacctgatccaccaGaggcatcatcaaggcttctg	9	12	9	11	0	3	2	2	1	1	1	4	2	4	2	3	3	1	3	3	3	2	3	rs749182893		C3N-00572_TP	C3N-00572_NB	G	G																c.6067C>T	p.=	p.L2023L	ENST00000366582	42/45	250	220	30	354	354	0	strelka-varscan-mutect	HEATR1,synonymous_variant,p.=,ENST00000366582,NM_018072.5;HEATR1,synonymous_variant,p.=,ENST00000366581,;LGALS8,downstream_gene_variant,,ENST00000526589,;LGALS8,downstream_gene_variant,,ENST00000450372,NM_006499.4;LGALS8,downstream_gene_variant,,ENST00000416919,;LGALS8,downstream_gene_variant,,ENST00000366584,NM_201544.2;RP11-385F5.4,upstream_gene_variant,,ENST00000433131,;	A	ENST00000366582	Transcript	synonymous_variant	6182/8447	6067/6435	2023/2144	L	Ctg/Ttg	rs749182893	1		-1	HEATR1	HGNC	HGNC:25517	protein_coding	YES	CCDS31066.1	ENSP00000355541	Q9H583		UPI000013D4D4	NM_018072.5			42/45		hmmpanther:PTHR13457,hmmpanther:PTHR13457:SF1,Superfamily_domains:SSF48371																	LOW		SNV	5			1										PASS		rs749182893	.												A	2	1	58	236554609	236554609	G	A	1	0	0	0	0	0	0	0	1	6910	933	33	3		3	HEATR1	1	236554609	Silent	SNP	G	C3N-00572_TP	1140024	236554609	12401813	2	19276											
ASAP2	0	.	GRCh38	chr2	9374879	9374879	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaacgagagatatttttGgattgctccaagcttatgct	12	14	8	7	1	1	1	1	0	0	1	2	4	2	2	1	1	4	3	1	1	5	5	novel		C3N-00572_TP	C3N-00572_NB	G	G																c.1681G>T	p.Gly561Ter	p.G561*	ENST00000281419	17/28	186	174	12	250	250	0	strelka-varscan-mutect	ASAP2,stop_gained,p.Gly561Ter,ENST00000281419,NM_003887.2;ASAP2,stop_gained,p.Gly561Ter,ENST00000315273,NM_001135191.1;	T	ENST00000281419	Transcript	stop_gained	2021/5712	1681/3021	561/1006	G/*	Gga/Tga		1		1	ASAP2	HGNC	HGNC:2721	protein_coding	YES	CCDS1661.1	ENSP00000281419	O43150		UPI0000073459	NM_003887.2			17/28		hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF238,Superfamily_domains:SSF48403																	HIGH	1	SNV	1			1										PASS		rs1334115239	.												T	4	4	58	9374879	9374879	G	T	1	0	0	0	0	0	1	0	0	1153	1349	47	2		2	ASAP2	2	9374879	Nonsense_Mutation	SNP	G	C3N-00572_TP		9374879	232818650	3	19277											
TFRC	0	.	GRCh38	chr3	196055120	196055120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttcagatccctcacaaatGaaagcagttggctgttgtac	11	11	10	9	0	2	2	2	1	0	1	3	2	3	2	1	2	2	6	1	2	3	4	novel		C3N-00572_TP	C3N-00572_NB	G	G																c.1859C>T	p.Ser620Leu	p.S620L	ENST00000360110	17/19	438	359	79	465	465	0	strelka-varscan-mutect	TFRC,missense_variant,p.Ser620Leu,ENST00000360110,NM_001128148.1;TFRC,missense_variant,p.Ser620Leu,ENST00000392396,NM_003234.2;TFRC,missense_variant,p.Ser539Leu,ENST00000420415,NM_001313966.1,NM_001313965.1;TFRC,missense_variant,p.Ser32Leu,ENST00000426789,;TFRC,downstream_gene_variant,,ENST00000465288,;TFRC,downstream_gene_variant,,ENST00000463356,;TFRC,non_coding_transcript_exon_variant,,ENST00000475593,;TFRC,non_coding_transcript_exon_variant,,ENST00000483983,;TFRC,non_coding_transcript_exon_variant,,ENST00000463047,;TFRC,downstream_gene_variant,,ENST00000477148,;TFRC,downstream_gene_variant,,ENST00000482479,;	A	ENST00000360110	Transcript	missense_variant	2029/5111	1859/2283	620/760	S/L	tCa/tTa		1		-1	TFRC	HGNC	HGNC:11763	protein_coding	YES	CCDS3312.1	ENSP00000353224	P02786		UPI0000049ADE	NM_001128148.1	tolerated(0.11)		17/19		hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF26,Gene3D:3kasA03,Superfamily_domains:SSF47672																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	58	196055120	196055120	G	A	1	0	0	0	0	1	0	0	0	16245	1294	45	3		3	TFRC	3	196055120	Missense_Mutation	SNP	G	C3N-00572_TP		196055120	2240439	4	19278											
SENP5	0	.	GRCh38	chr3	196899748	196899748	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggaagattaaaagatgtCtttaatgaagacttttctaa	15	15	7	4	0	2	4	0	1	2	3	2	5	2	5	0	1	0	0	0	1	6	7			C3N-00572_TP	C3N-00572_NB	C	C																c.1596C>T	p.=	p.V532V	ENST00000323460	3/10	110	89	21	200	200	0	strelka-varscan-mutect	SENP5,synonymous_variant,p.=,ENST00000323460,NM_152699.4;SENP5,synonymous_variant,p.=,ENST00000445299,NM_001308045.1;SENP5,synonymous_variant,p.=,ENST00000419026,;SENP5,upstream_gene_variant,,ENST00000489744,;	T	ENST00000323460	Transcript	synonymous_variant	1845/6308	1596/2268	532/755	V	gtC/gtT	COSM263573	1		1	SENP5	HGNC	HGNC:28407	protein_coding	YES	CCDS3322.1	ENSP00000327197	Q96HI0		UPI00001AF3BE	NM_152699.4			3/10		hmmpanther:PTHR12606:SF10,hmmpanther:PTHR12606											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	58	196899748	196899748	C	T	1	0	0	0	0	0	0	0	1	14325	900	32	3		3	SENP5	3	196899748	Silent	SNP	C	C3N-00572_TP	844628	196899748	1395811	5	19279											
MAN2A1	0	.	GRCh38	chr5	109855189	109855191	+	In_Frame_Del	DEL	CTT	CTT	-																															ttctctccttagccacataaCttcttctctcatgaatcatc																								rs750925456		C3N-00572_TP	C3N-00572_NB	CTT	CTT																c.3031_3033delTCT	p.Ser1011del	p.S1011del	ENST00000261483	20/22	62	57	5	90	90	0	sindel-varindel-pindel	MAN2A1,inframe_deletion,p.Ser1011del,ENST00000261483,NM_002372.3;MAN2A1,non_coding_transcript_exon_variant,,ENST00000505313,;MAN2A1,non_coding_transcript_exon_variant,,ENST00000513921,;	-	ENST00000261483	Transcript	inframe_deletion	4078-4080/4667	3026-3028/3435	1009-1010/1144	TS/T	aCTTct/act	rs750925456,COSM1257205	1		1	MAN2A1	HGNC	HGNC:6824	protein_coding	YES	CCDS34209.1	ENSP00000261483	Q16706		UPI000013D193	NM_002372.3			20/22		hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF4,Pfam_domain:PF07748,Superfamily_domains:SSF74650											0,1						MODERATE	1	deletion	1	5	0,1	1										PASS		.	.												-	7	5	58	109855189	109855189	CTT	-	1	0	1	0	1	0	0	0	0	9135	565	20	0		0	MAN2A1	5	109855189	In_Frame_Del	DEL	CTT	C3N-00572_TP		109855189	71683070	6	19280											
DPP6	0	.	GRCh38	chr7	154889324	154889324	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaacagcagttcctgaTcattcatcccactgccgatg	11	9	9	12	1	2	2	2	1	0	1	4	4	4	3	3	1	3	2	3	1	2	2	novel		C3N-00572_TP	C3N-00572_NB	T	T																c.2357T>A	p.Ile786Asn	p.I786N	ENST00000377770	24/26	173	141	32	226	226	0	strelka-varscan-mutect	DPP6,missense_variant,p.Ile722Asn,ENST00000404039,NM_001039350.2;DPP6,missense_variant,p.Ile724Asn,ENST00000332007,NM_001936.4;DPP6,missense_variant,p.Ile786Asn,ENST00000377770,NM_130797.3;DPP6,missense_variant,p.Ile679Asn,ENST00000427557,NM_001290252.1;DPP6,non_coding_transcript_exon_variant,,ENST00000480367,;	A	ENST00000377770	Transcript	missense_variant	2498/3710	2357/2598	786/865	I/N	aTc/aAc		1		1	DPP6	HGNC	HGNC:3010	protein_coding	YES	CCDS75683.1	ENSP00000367001	P42658		UPI00001AE746	NM_130797.3	deleterious(0)		24/26		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20,Gene3D:3.40.50.1820,Pfam_domain:PF00326,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	58	154889324	154889324	T	A	1	0	0	0	0	1	0	0	0	4545	1435	50	4		4	DPP6	7	154889324	Missense_Mutation	SNP	T	C3N-00572_TP		154889324	4456649	7	19281											
ACVR1B	0	.	GRCh38	chr12	51991982	51991982	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacatccccaactggtggCagagttatgaggtaagaagc	13	7	11	10	0	0	3	0	1	0	2	1	3	1	3	3	3	3	3	3	3	5	2			C3N-00572_TP	C3N-00572_NB	C	C																c.1504C>T	p.Gln502Ter	p.Q502*	ENST00000541224	9/10	252	214	38	413	413	0	strelka-varscan-mutect	ACVR1B,stop_gained,p.Gln461Ter,ENST00000257963,NM_004302.4;ACVR1B,stop_gained,p.Gln409Ter,ENST00000542485,NM_020327.3;ACVR1B,stop_gained,p.Gln502Ter,ENST00000541224,NM_020328.3;ACVR1B,stop_gained,p.Gln461Ter,ENST00000426655,;ACVR1B,downstream_gene_variant,,ENST00000415850,;RNU6-574P,downstream_gene_variant,,ENST00000384265,;ACVR1B,non_coding_transcript_exon_variant,,ENST00000563121,;	T	ENST00000541224	Transcript	stop_gained	1547/1791	1504/1641	502/546	Q/*	Cag/Tag	COSM1362434	1		1	ACVR1B	HGNC	HGNC:172	protein_coding	YES	CCDS44894.2	ENSP00000442656	P36896		UPI0001915052	NM_020328.3			9/10		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF22,SMART_domains:SM00220,Superfamily_domains:SSF56112											1						HIGH	1	SNV	2		1	1										PASS		.	.												T	4	4	58	51991982	51991982	C	T	1	0	0	0	0	0	1	0	0	265	711	25	3		3	ACVR1B	12	51991982	Nonsense_Mutation	SNP	C	C3N-00572_TP		51991982	81283327	8	19282											
ZNF768	0	.	GRCh38	chr16	30524745	30524745	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtggaggagcgattgaaGgtcttgccgcagtcggggca	9	7	18	7	3	1	2	0	1	1	1	2	5	1	4	1	5	2	2	1	5	1	2	novel		C3N-00572_TP	C3N-00572_NB	G	G																c.1395C>G	p.=	p.T465T	ENST00000380412	2/2	215	177	38	270	270	0	strelka-varscan-mutect	ZNF768,synonymous_variant,p.=,ENST00000380412,NM_024671.3;ZNF768,synonymous_variant,p.=,ENST00000562803,;ITGAL,downstream_gene_variant,,ENST00000356798,NM_002209.2;ITGAL,downstream_gene_variant,,ENST00000358164,NM_001114380.1;ITGAL,downstream_gene_variant,,ENST00000433423,;AC002310.14,upstream_gene_variant,,ENST00000624451,;AC002310.11,downstream_gene_variant,,ENST00000569360,;ITGAL,downstream_gene_variant,,ENST00000564632,;	C	ENST00000380412	Transcript	synonymous_variant	1571/2315	1395/1623	465/540	T	acC/acG		1		-1	ZNF768	HGNC	HGNC:26273	protein_coding	YES	CCDS10681.2	ENSP00000369777	Q9H5H4	A0A024QZC8	UPI00001FFEED	NM_024671.3			2/2		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF208,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		rs1343537361	.												C	2	2	58	30524745	30524745	G	C	1	0	0	0	0	0	0	0	1	18724	987	35	4		4	ZNF768	16	30524745	Silent	SNP	G	C3N-00572_TP		30524745	59813600	9	19283											
TP53	0	.	GRCh38	chr17	7670687	7670687	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctcattcagctctcggAacatctcgaagcgctcacgc	9	8	9	15	4	5	0	3	0	2	0	7	2	5	1	1	2	3	2	1	2	2	1			C3N-00572_TP	C3N-00572_NB	A	A																c.1022T>A	p.Phe341Tyr	p.F341Y	ENST00000269305	10/11	282	236	46	416	416	0	strelka-varscan-mutect	TP53,missense_variant,p.Phe302Tyr,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Phe341Tyr,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Phe302Tyr,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Phe341Tyr,ENST00000445888,;TP53,missense_variant,p.Phe302Tyr,ENST00000619485,;TP53,missense_variant,p.Phe209Tyr,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Phe182Tyr,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Phe330Tyr,ENST00000615910,;TP53,3_prime_UTR_variant,,ENST00000617185,NM_001126114.2;TP53,3_prime_UTR_variant,,ENST00000420246,;TP53,3_prime_UTR_variant,,ENST00000622645,NM_001276696.1;TP53,3_prime_UTR_variant,,ENST00000455263,NM_001126113.2;TP53,3_prime_UTR_variant,,ENST00000610538,NM_001276695.1;TP53,3_prime_UTR_variant,,ENST00000510385,NM_001126116.1;TP53,3_prime_UTR_variant,,ENST00000618944,NM_001276698.1;TP53,3_prime_UTR_variant,,ENST00000504290,NM_001126117.1;TP53,3_prime_UTR_variant,,ENST00000610623,NM_001276699.1;TP53,intron_variant,,ENST00000359597,;TP53,intron_variant,,ENST00000413465,;TP53,intron_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Phe302Tyr,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	T	ENST00000269305	Transcript	missense_variant	1212/2579	1022/1182	341/393	F/Y	tTc/tAc	TP53_g.16913del,TP53_g.16913T>G,COSM45744,COSM46016	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0.01)		10/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:1olgA00,Pfam_domain:PF07710,Superfamily_domains:SSF47719,Prints_domain:PR00386											0,0,1,1						MODERATE	1	SNV	1		0,0,1,1	1										PASS		.	.												T	3	4	58	7670687	7670687	A	T	1	0	0	0	0	1	0	0	0	16859	246	9	4		4	TP53	17	7670687	Missense_Mutation	SNP	A	C3N-00572_TP		7670687	75586754	10	19284											
TMEM132E	0	.	GRCh38	chr17	34637708	34637708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggcgtcttctgcctcGccatcctcgtcttcctcatc	2	14	8	17	3	4	0	1	0	3	0	9	0	6	0	4	1	2	1	4	1	0	2	novel		C3N-00572_TP	C3N-00572_NB	G	G																c.2431G>A	p.Ala811Thr	p.A811T	ENST00000321639	10/10	227	191	36	291	291	0	strelka-varscan-mutect	TMEM132E,missense_variant,p.Ala901Thr,ENST00000631683,NM_001304438.1;TMEM132E,missense_variant,p.Ala811Thr,ENST00000321639,;TMEM132E,downstream_gene_variant,,ENST00000577271,;	A	ENST00000321639	Transcript	missense_variant	2759/4369	2431/2955	811/984	A/T	Gcc/Acc		1		1	TMEM132E	HGNC	HGNC:26991	protein_coding	YES		ENSP00000316532	Q6IEE7		UPI000035960F		deleterious(0)		10/10		Pfam_domain:PF15706,hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF7,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	58	34637708	34637708	G	A	1	0	0	0	0	1	0	0	0	16493	1087	38	1		1	TMEM132E	17	34637708	Missense_Mutation	SNP	G	C3N-00572_TP	26967021	34637708	48619733	11	19285											
HID1	0	.	GRCh38	chr17	74959020	74959020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggggttggacagcagcCgggctatacccttgaggatg	8	7	17	9	1	0	1	0	1	0	0	0	3	0	3	2	5	3	4	2	5	2	4	rs750214001		C3N-00572_TP	C3N-00572_NB	C	C																c.1040G>T	p.Arg347Leu	p.R347L	ENST00000425042	9/19	43	33	10	58	58	0	strelka-varscan-mutect	HID1,missense_variant,p.Arg347Leu,ENST00000425042,NM_030630.2;HID1,missense_variant,p.Arg239Leu,ENST00000530857,;HID1,missense_variant,p.Arg54Leu,ENST00000318565,;HID1,downstream_gene_variant,,ENST00000581676,;HID1,downstream_gene_variant,,ENST00000532900,;HID1,downstream_gene_variant,,ENST00000579818,;HID1,downstream_gene_variant,,ENST00000530904,;HID1,upstream_gene_variant,,ENST00000578002,;HID1,3_prime_UTR_variant,,ENST00000534480,;HID1,non_coding_transcript_exon_variant,,ENST00000532894,;HID1,downstream_gene_variant,,ENST00000528902,;HID1,upstream_gene_variant,,ENST00000532395,;HID1,downstream_gene_variant,,ENST00000525128,;HID1,upstream_gene_variant,,ENST00000583244,;	A	ENST00000425042	Transcript	missense_variant	1118/3271	1040/2367	347/788	R/L	cGg/cTg	rs750214001	1		-1	HID1	HGNC	HGNC:15736	protein_coding	YES	CCDS32726.1	ENSP00000413520	Q8IV36		UPI00000746AC	NM_030630.2	deleterious(0.01)		9/19		Pfam_domain:PF12722,hmmpanther:PTHR21575,hmmpanther:PTHR21575:SF12																	MODERATE	1	SNV	1			1										PASS		rs750214001	.												A	3	1	58	74959020	74959020	C	A	1	0	0	0	0	1	0	0	0	6987	652	23	1		1	HID1	17	74959020	Missense_Mutation	SNP	C	C3N-00572_TP	40321312	74959020	8298421	12	19286											
PTH2	0	.	GRCh38	chr19	49423276	49423276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgccccagggcaccaccaGcagcagcagcagcagcagca	12	0	12	17	1	0	0	0	0	0	0	0	1	0	0	4	1	7	8	4	1	0	0	rs200733272		C3N-00572_TP	C3N-00572_NB	G	G																c.64C>G	p.Leu22Val	p.L22V	ENST00000270631	1/2	171	162	9	245	242	3	strelka-mutect	PTH2,missense_variant,p.Leu22Val,ENST00000270631,NM_178449.3;GFY,upstream_gene_variant,,ENST00000576655,;GFY,upstream_gene_variant,,ENST00000610896,NM_001195256.1;	C	ENST00000270631	Transcript	missense_variant	166/459	64/303	22/100	L/V	Ctg/Gtg	rs200733272	1		-1	PTH2	HGNC	HGNC:30828	protein_coding	YES	CCDS12763.1	ENSP00000270631	Q96A98		UPI000006DF4C	NM_178449.3	deleterious_low_confidence(0.02)		1/2		hmmpanther:PTHR28585,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs200733272	.												C	3	2	58	49423276	49423276	G	C	1	0	0	0	0	1	0	0	0	12915	962	34	4		4	PTH2	19	49423276	Missense_Mutation	SNP	G	C3N-00572_TP		49423276	9194340	13	19287											
ZNF773	0	.	GRCh38	chr19	57506379	57506379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttggcaaggagccaaggCtgaggcagctgctgagcaga	11	6	16	8	0	0	3	0	2	0	1	0	4	0	4	1	4	4	7	1	4	3	2	novel		C3N-00572_TP	C3N-00572_NB	C	C																c.284C>T	p.Ala95Val	p.A95V	ENST00000282292	4/4	100	91	9	134	134	0	strelka-varscan-mutect	ZNF773,missense_variant,p.Ala95Val,ENST00000282292,NM_198542.2;ZNF773,missense_variant,p.Ala94Val,ENST00000598770,NM_001304336.1,NM_001304334.1;ZNF773,intron_variant,,ENST00000599847,NM_001304335.1;ZNF773,intron_variant,,ENST00000593916,NM_001304337.1;ZNF773,non_coding_transcript_exon_variant,,ENST00000601958,;ZNF773,intron_variant,,ENST00000597061,;AC003005.4,downstream_gene_variant,,ENST00000601674,;AC003005.4,downstream_gene_variant,,ENST00000599674,;	T	ENST00000282292	Transcript	missense_variant	424/2206	284/1329	95/442	A/V	gCt/gTt		1		1	ZNF773	HGNC	HGNC:30487	protein_coding	YES	CCDS33134.1	ENSP00000282292	Q6PK81		UPI00001BD93D	NM_198542.2	tolerated(0.54)		4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF40																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	58	57506379	57506379	C	T	1	0	0	0	0	1	0	0	0	18729	797	28	3		3	ZNF773	19	57506379	Missense_Mutation	SNP	C	C3N-00572_TP	8083103	57506379	1111237	14	19288											
LAMP5	0	.	GRCh38	chr20	9518038	9518038	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctctgggctcttgctgtAgctgggaagcacacagccaa	8	10	12	11	0	2	0	0	0	2	0	2	1	2	1	1	2	5	6	1	2	3	3	novel		C3N-00572_TP	C3N-00572_NB	A	A																c.476-2A>G		p.X159_splice	ENST00000246070		94	82	12	105	105	0	strelka-varscan-mutect	LAMP5,splice_acceptor_variant,,ENST00000246070,NM_012261.3;LAMP5,splice_acceptor_variant,,ENST00000427562,NM_001199897.1;LAMP5-AS1,upstream_gene_variant,,ENST00000443469,;	G	ENST00000246070	Transcript	splice_acceptor_variant	-/2039	476/843	159/280				1		1	LAMP5	HGNC	HGNC:16097	protein_coding	YES	CCDS13106.1	ENSP00000246070	Q9UJQ1		UPI0000128675	NM_012261.3				4/5																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	58	9518038	9518038	A	G	1	0	0	0	0	0	0	1	0	8524	434	15	5		5	LAMP5	20	9518038	Splice_Site	SNP	A	C3N-00572_TP		9518038	54926129	15	19289			1	14		2	2	131	A		9.260423e-05
LAMP5	0	.	GRCh38	chr20	9518168	9518168	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagaagacggtcaccatgAtcctgtctgcggtccacatc	9	8	10	14	3	2	3	1	1	1	2	5	3	4	3	3	2	1	1	3	2	1	0	novel		C3N-00572_TP	C3N-00572_NB	A	A																c.604A>C	p.Ile202Leu	p.I202L	ENST00000246070	5/6	221	191	30	240	240	0	strelka-varscan-mutect	LAMP5,missense_variant,p.Ile202Leu,ENST00000246070,NM_012261.3;LAMP5,missense_variant,p.Ile158Leu,ENST00000427562,NM_001199897.1;LAMP5-AS1,upstream_gene_variant,,ENST00000443469,;	C	ENST00000246070	Transcript	missense_variant	1096/2039	604/843	202/280	I/L	Atc/Ctc		1		1	LAMP5	HGNC	HGNC:16097	protein_coding	YES	CCDS13106.1	ENSP00000246070	Q9UJQ1		UPI0000128675	NM_012261.3	tolerated(1)		5/6		hmmpanther:PTHR11506,Pfam_domain:PF01299																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	58	9518168	9518168	A	C	1	0	0	0	0	1	0	0	0	8524	333	12	5		5	LAMP5	20	9518168	Missense_Mutation	SNP	A	C3N-00572_TP	130	9518168	54925999	16	19290			1	14		2	2	131	A		9.260423e-05
JAG1	0	.	GRCh38	chr20	10641646	10641646	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctctgcccgctggggcaCtcgctgtgccctttgtggag	3	10	14	14	2	1	0	0	0	1	0	2	1	1	1	2	3	3	4	2	3	0	1	novel		C3N-00572_TP	C3N-00572_NB	C	C																c.2730G>A	p.=	p.E910E	ENST00000254958	23/26	444	368	76	607	607	0	strelka-varscan-mutect	JAG1,synonymous_variant,p.=,ENST00000254958,NM_000214.2;JAG1,downstream_gene_variant,,ENST00000613518,;JAG1,non_coding_transcript_exon_variant,,ENST00000423891,;JAG1,downstream_gene_variant,,ENST00000488480,;SLX4IP,downstream_gene_variant,,ENST00000488816,;JAG1,downstream_gene_variant,,ENST00000612857,;JAG1,upstream_gene_variant,,ENST00000617357,;	T	ENST00000254958	Transcript	synonymous_variant	3307/6048	2730/3657	910/1218	E	gaG/gaA		1		-1	JAG1	HGNC	HGNC:6188	protein_coding	YES	CCDS13112.1	ENSP00000254958	P78504		UPI00000498B5	NM_000214.2			23/26		hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF269,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	58	10641646	10641646	C	T	1	0	0	0	0	0	0	0	1	7847	564	20	3		3	JAG1	20	10641646	Silent	SNP	C	C3N-00572_TP	1123478	10641646	53802521	17	19291											
ZNF512B	0	.	GRCh38	chr20	63961944	63961944	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggccccagaactgacctTactgcagctggcgagatgag	10	6	13	12	1	0	4	0	2	0	2	0	5	0	4	3	2	4	3	3	2	2	1	novel		C3N-00572_TP	C3N-00572_NB	T	T																c.2326A>T	p.Lys776Ter	p.K776*	ENST00000369888	15/17	213	191	22	199	199	0	strelka-varscan-mutect	ZNF512B,stop_gained,p.Lys776Ter,ENST00000369888,NM_020713.2;UCKL1-AS1,downstream_gene_variant,,ENST00000623569,;	A	ENST00000369888	Transcript	stop_gained,splice_region_variant	2380/5919	2326/2679	776/892	K/*	Aag/Tag		1		-1	ZNF512B	HGNC	HGNC:29212	protein_coding	YES	CCDS13548.1	ENSP00000358904	Q96KM6		UPI000013A290	NM_020713.2			15/17		hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF3,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	58	63961944	63961944	T	A	1	0	0	0	0	0	1	0	0	18529	1768	61	4		4	ZNF512B	20	63961944	Nonsense_Mutation	SNP	T	C3N-00572_TP	53320298	63961944	482223	18	19292											
MGAT3	0	.	GRCh38	chr22	39487677	39487677	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccgagtatttcgtgcgCaccaaggccggcggcgtctg	7	7	13	14	6	1	0	0	0	1	0	2	1	1	0	4	3	1	2	4	3	2	2	novel		C3N-00572_TP	C3N-00572_NB	C	C																c.330C>A	p.=	p.R110R	ENST00000341184	2/2	83	68	15	145	145	0	strelka-varscan-mutect	MGAT3,synonymous_variant,p.=,ENST00000341184,NM_002409.4,NM_001098270.1;MGAT3,synonymous_variant,p.=,ENST00000429402,;MGAT3,downstream_gene_variant,,ENST00000418314,;	A	ENST00000341184	Transcript	synonymous_variant	545/5062	330/1602	110/533	R	cgC/cgA		1		1	MGAT3	HGNC	HGNC:7046	protein_coding	YES	CCDS13994.2	ENSP00000345270	Q09327		UPI00003765B6	NM_002409.4,NM_001098270.1			2/2		hmmpanther:PTHR12224:SF0,hmmpanther:PTHR12224																	LOW	1	SNV	1			1										PASS		rs1205519736	.												A	2	1	58	39487677	39487677	C	A	1	0	0	0	0	0	0	0	1	9504	697	25	2		2	MGAT3	22	39487677	Silent	SNP	C	C3N-00572_TP		39487677	11330791	19	19293											
MAP7D2	0	.	GRCh38	chrX	20025035	20025035	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcttttcagccaagatcTtcgcagcctctcctgcatca	7	14	5	15	1	5	1	2	0	3	1	8	1	5	1	3	0	3	2	3	0	1	4	novel		C3N-00572_TP	C3N-00572_NB	T	T																c.1328A>G	p.Lys443Arg	p.K443R	ENST00000379643	10/17	221	181	40	255	255	0	strelka-varscan-mutect	MAP7D2,missense_variant,p.Lys402Arg,ENST00000379651,NM_152780.3;MAP7D2,missense_variant,p.Lys443Arg,ENST00000379643,NM_001168465.1;MAP7D2,missense_variant,p.Lys357Arg,ENST00000443379,NM_001168466.1;MAP7D2,missense_variant,p.Lys350Arg,ENST00000452324,NM_001168467.1;MAP7D2,non_coding_transcript_exon_variant,,ENST00000466145,;	C	ENST00000379643	Transcript	missense_variant	1366/3918	1328/2322	443/773	K/R	aAg/aGg		1		-1	MAP7D2	HGNC	HGNC:25899	protein_coding	YES	CCDS55386.1	ENSP00000368964	Q96T17		UPI00015E039B	NM_001168465.1	tolerated(0.24)		10/17		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05672,hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	58	20025035	20025035	T	C	1	0	0	0	0	1	0	0	0	9192	1609	56	5		5	MAP7D2	23	20025035	Missense_Mutation	SNP	T	C3N-00572_TP		20025035	136015860	20	19294											
TAB3	0	.	GRCh38	chrX	30859511	30859511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgcactgagacaccacGccctctggaatttcagggaa	13	7	9	12	1	2	1	1	1	1	1	2	4	2	3	2	2	2	1	2	2	3	1	rs763138676		C3N-00572_TP	C3N-00572_NB	G	G																c.78C>T	p.=	p.G26G	ENST00000378933	6/12	279	238	41	311	311	0	strelka-varscan-mutect	TAB3,synonymous_variant,p.=,ENST00000378933,NM_152787.4;TAB3,synonymous_variant,p.=,ENST00000378930,;TAB3,synonymous_variant,p.=,ENST00000378932,;TAB3,synonymous_variant,p.=,ENST00000288422,;TAB3-AS2,downstream_gene_variant,,ENST00000445240,;TAB3,synonymous_variant,p.=,ENST00000467136,;	A	ENST00000378933	Transcript	synonymous_variant	625/6671	78/2139	26/712	G	ggC/ggT	rs763138676,COSM185140	1		-1	TAB3	HGNC	HGNC:30681	protein_coding	YES	CCDS14226.1	ENSP00000368215	Q8N5C8		UPI0000071648	NM_152787.4			6/12		PROSITE_profiles:PS51140,hmmpanther:PTHR10351:SF45,hmmpanther:PTHR10351,Pfam_domain:PF02845,SMART_domains:SM00546											0,1						LOW	1	SNV	1		0,1	1										PASS		rs763138676	.												A	2	1	58	30859511	30859511	G	A	1	0	0	0	0	0	0	0	1	15893	1074	38	1		1	TAB3	23	30859511	Silent	SNP	G	C3N-00572_TP	10834476	30859511	125181384	21	19295											
ARHGAP36	0	.	GRCh38	chrX	131081750	131081751	+	Frame_Shift_Ins	INS	-	-	T																															gctgttgttgtccgccttcaINStttttttagtgagtgtcttg																								novel		C3N-00572_TP	C3N-00572_NB	-	-																c.92dupT	p.Leu31PhefsTer27	p.L31Ffs*27	ENST00000276211	2/12	306	259	47	430	429	1	sindel-varindel	ARHGAP36,frameshift_variant,p.Leu31PhefsTer27,ENST00000276211,NM_144967.3;ARHGAP36,intron_variant,,ENST00000370922,NM_001282607.1;ARHGAP36,intron_variant,,ENST00000412432,;ARHGAP36,intron_variant,,ENST00000423277,;ARHGAP36,upstream_gene_variant,,ENST00000370921,;	T	ENST00000276211	Transcript	frameshift_variant	430-431/3083	85-86/1644	29/547	I/IX	att/aTtt		1		1	ARHGAP36	HGNC	HGNC:26388	protein_coding	YES	CCDS14628.1	ENSP00000276211	Q6ZRI8		UPI0000041347	NM_144967.3			2/12		hmmpanther:PTHR12635,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix																	HIGH	1	insertion	2	7		1										PASS		.	.												T	7	5	58	131081750	131081750	-	T	1	0	1	1	0	0	0	0	0	1009	217	8	0		0	ARHGAP36	23	131081750	Frame_Shift_Ins	INS	-	C3N-00572_TP	100222239	131081750	24959145	22	19296											
CSMD2	0	.	GRCh38	chr1	33605986	33605986	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctggtgggagtaagtcaAatctgtggcaaggagagaag	14	8	15	4	0	3	1	1	0	2	1	3	4	3	3	0	4	0	2	0	4	5	1	novel		C3N-00574_TP	C3N-00574_NB	A	A																c.6226T>A	p.Leu2076Met	p.L2076M	ENST00000373388	42/70	161	149	12	120	120	0	strelka-varscan-mutect	CSMD2,missense_variant,p.Leu2076Met,ENST00000373388,NM_052896.4;CSMD2,intron_variant,,ENST00000373381,NM_001281956.1;CSMD2,intron_variant,,ENST00000619121,;CSMD2,intron_variant,,ENST00000373380,;CSMD2,intron_variant,,ENST00000373377,;CSMD2,upstream_gene_variant,,ENST00000489419,;CSMD2,missense_variant,p.Leu2076Met,ENST00000241312,;	T	ENST00000373388	Transcript	missense_variant,splice_region_variant	6255/13118	6226/10464	2076/3487	L/M	Ttg/Atg		1		-1	CSMD2	HGNC	HGNC:19290	protein_coding		CCDS380.1	ENSP00000362486	Q7Z408		UPI00004561AB	NM_052896.4	tolerated_low_confidence(0.11)		42/70		PROSITE_profiles:PS01180,SMART_domains:SM00042																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	59	33605986	33605986	A	T	1	0	0	0	0	1	0	0	0	3746	28	1	4		4	CSMD2	1	33605986	Missense_Mutation	SNP	A	C3N-00574_TP		33605986	215350436	1	19297											
MACF1	0	.	GRCh38	chr1	39353086	39353086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaacttcagtaggatcatCtggtggacagctgctgacca	10	10	12	9	0	3	1	2	1	1	0	3	3	3	3	1	4	3	4	1	4	2	3	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.5093C>T	p.Ser1698Phe	p.S1698F	ENST00000361689	38/93	184	174	10	153	153	0	strelka-varscan-mutect	MACF1,missense_variant,p.Ser3760Phe,ENST00000564288,;MACF1,missense_variant,p.Ser3797Phe,ENST00000567887,;MACF1,missense_variant,p.Ser3765Phe,ENST00000372915,;MACF1,missense_variant,p.Ser2200Phe,ENST00000289893,;MACF1,missense_variant,p.Ser1698Phe,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Ser832Phe,ENST00000372925,;MACF1,missense_variant,p.Ser1847Phe,ENST00000530262,;MACF1,non_coding_transcript_exon_variant,,ENST00000476350,;	T	ENST00000361689	Transcript	missense_variant	5145/17538	5093/16293	1698/5430	S/F	tCt/tTt		1		1	MACF1	HGNC	HGNC:13664	protein_coding	YES	CCDS435.1	ENSP00000354573	Q9UPN3		UPI00001B3DC6	NM_012090.5	deleterious(0.02)		38/93		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	59	39353086	39353086	C	T	1	0	0	0	0	1	0	0	0	9060	913	32	3		3	MACF1	1	39353086	Missense_Mutation	SNP	C	C3N-00574_TP	5747100	39353086	209603336	2	19298											
PATJ	0	.	GRCh38	chr1	61901430	61901430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccagcagggaagacgaacGcacttaaaactggagataaa	17	5	11	8	2	0	2	0	0	0	2	1	5	1	3	1	2	3	2	1	2	6	2	rs545651035		C3N-00574_TP	C3N-00574_NB	G	G																c.3352G>A	p.Ala1118Thr	p.A1118T	ENST00000371158	24/43	203	187	16	244	243	1	strelka-varscan-mutect	PATJ,missense_variant,p.Ala1118Thr,ENST00000371158,NM_176877.2;PATJ,missense_variant,p.Ala1118Thr,ENST00000613764,;PATJ,missense_variant,p.Ala1118Thr,ENST00000316485,;PATJ,missense_variant,p.Ala577Thr,ENST00000484937,;PATJ,3_prime_UTR_variant,,ENST00000635023,;PATJ,non_coding_transcript_exon_variant,,ENST00000484562,;PATJ,non_coding_transcript_exon_variant,,ENST00000459752,;PATJ,non_coding_transcript_exon_variant,,ENST00000635214,;	A	ENST00000371158	Transcript	missense_variant	3466/8505	3352/5406	1118/1801	A/T	Gca/Aca	rs545651035,COSM911279	1		1	PATJ	HGNC	HGNC:28881	protein_coding	YES	CCDS617.2	ENSP00000360200	Q8NI35		UPI0000204487	NM_176877.2	tolerated(0.17)		24/43		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF11,SMART_domains:SM00228,Superfamily_domains:SSF50156											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs545651035	.												A	3	1	59	61901430	61901430	G	A	1	0	0	0	0	1	0	0	0	11558	1087	38	1		1	PATJ	1	61901430	Missense_Mutation	SNP	G	C3N-00574_TP	22548344	61901430	187054992	3	19299											
FLG	0	.	GRCh38	chr1	152311573	152311573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaccttccccctgaccagtCacgtgcggactcttggtggc	6	9	11	15	2	2	2	1	1	1	1	3	3	3	3	4	3	1	0	4	3	0	2	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.3313G>A	p.Asp1105Asn	p.D1105N	ENST00000368799	3/3	565	508	57	442	441	1	strelka-varscan-mutect	FLG,missense_variant,p.Asp1105Asn,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	T	ENST00000368799	Transcript	missense_variant	3349/12747	3313/12186	1105/4061	D/N	Gac/Aac		1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	tolerated(0.21)		3/3																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	59	152311573	152311573	C	T	1	0	0	0	0	1	0	0	0	5784	826	29	3		3	FLG	1	152311573	Missense_Mutation	SNP	C	C3N-00574_TP	90410143	152311573	96644849	4	19300											
SRGAP2	0	.	GRCh38	chr1	206446269	206446269	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagctggagggccctgtctAcagcagaggaggaagcatgg	10	5	18	8	0	1	1	0	0	1	1	1	5	1	5	1	6	4	3	1	6	2	1	novel		C3N-00574_TP	C3N-00574_NB	A	A																c.2069A>G	p.Tyr690Cys	p.Y690C	ENST00000573034	17/22	308	290	18	204	204	0	strelka-varscan	SRGAP2,missense_variant,p.Tyr690Cys,ENST00000573034,NM_015326.4;SRGAP2,missense_variant,p.Tyr689Cys,ENST00000624873,NM_001170637.3;SRGAP2,missense_variant,p.Tyr689Cys,ENST00000605610,NM_001300952.1;SRGAP2,missense_variant,p.Tyr304Cys,ENST00000605476,;SRGAP2,missense_variant,p.Tyr73Cys,ENST00000604925,;SRGAP2,downstream_gene_variant,,ENST00000604419,;	G	ENST00000573034	Transcript	missense_variant	2131/6301	2069/3216	690/1071	Y/C	tAc/tGc		1		1	SRGAP2	HGNC	HGNC:19751	protein_coding	YES	CCDS73017.1	ENSP00000459615		A2RUF3	UPI0000DC3AA7	NM_015326.4	deleterious(0)		17/22		hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	59	206446269	206446269	A	G	1	0	0	0	0	1	0	0	0	15505	391	14	5		5	SRGAP2	1	206446269	Missense_Mutation	SNP	A	C3N-00574_TP	54134696	206446269	42510153	5	19301											
RYR2	0	.	GRCh38	chr1	237711775	237711775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaagagcagaacttcgttGtacagaatgaaatcaacaat	18	8	9	6	1	1	5	1	1	0	4	2	6	1	5	0	0	4	3	0	0	7	3	novel		C3N-00574_TP	C3N-00574_NB	G	G																c.10261G>T	p.Val3421Leu	p.V3421L	ENST00000366574	71/105	161	123	38	235	235	0	strelka-varscan	RYR2,missense_variant,p.Val3421Leu,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Val3405Leu,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	T	ENST00000366574	Transcript	missense_variant	10578/16562	10261/14904	3421/4967	V/L	Gta/Tta		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0.01)		71/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	59	237711775	237711775	G	T	1	0	0	0	0	1	0	0	0	14029	1377	48	2		2	RYR2	1	237711775	Missense_Mutation	SNP	G	C3N-00574_TP	31265506	237711775	11244647	6	19302											
OR2M2	0	.	GRCh38	chr1	248180434	248180434	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggctaccttctcctggaTcctgggctctacagatggaa	8	12	10	11	0	2	1	0	0	2	1	4	3	3	3	3	4	2	2	3	4	4	4	novel		C3N-00574_TP	C3N-00574_NB	T	T																c.449T>C	p.Ile150Thr	p.I150T	ENST00000359682	1/1	386	342	44	357	357	0	strelka-varscan	OR2M2,missense_variant,p.Ile150Thr,ENST00000359682,NM_001004688.1;	C	ENST00000359682	Transcript	missense_variant	449/1044	449/1044	150/347	I/T	aTc/aCc		1		1	OR2M2	HGNC	HGNC:8268	protein_coding	YES	CCDS31106.1	ENSP00000352710	Q96R28	A0A126GWI7	UPI00001612E4	NM_001004688.1	tolerated(0.06)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF28,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	59	248180434	248180434	T	C	1	0	0	0	0	1	0	0	0	11088	1435	50	5		5	OR2M2	1	248180434	Missense_Mutation	SNP	T	C3N-00574_TP	10468659	248180434	775988	7	19303											
OR2T4	0	.	GRCh38	chr1	248361854	248361854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccacctccacacccccatgTactttttcatcagtcaattg	9	12	3	17	0	3	0	3	0	0	0	4	0	4	0	5	0	1	1	5	0	2	4	novel		C3N-00574_TP	C3N-00574_NB	T	T																c.274T>C	p.Tyr92His	p.Y92H	ENST00000366475	1/1	420	366	54	355	355	0	strelka-varscan	OR2T4,missense_variant,p.Tyr92His,ENST00000366475,NM_001004696.1;	C	ENST00000366475	Transcript	missense_variant	274/1047	274/1047	92/348	Y/H	Tac/Cac		1		1	OR2T4	HGNC	HGNC:15016	protein_coding	YES	CCDS31113.1	ENSP00000355431	Q8NH00		UPI000004B9CC	NM_001004696.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF241,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	59	248361854	248361854	T	C	1	0	0	0	0	1	0	0	0	11104	1638	57	5		5	OR2T4	1	248361854	Missense_Mutation	SNP	T	C3N-00574_TP	181420	248361854	594568	8	19304											
SLC5A6	0	.	GRCh38	chr2	27203804	27203804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccgctgaagaggcaggCaatgaagagccctggcaggc	12	3	16	10	1	0	5	0	2	0	3	0	5	0	5	2	4	2	4	2	4	3	0	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.1069G>T	p.Ala357Ser	p.A357S	ENST00000310574	10/17	330	219	111	221	221	0	strelka-varscan	SLC5A6,missense_variant,p.Ala357Ser,ENST00000310574,NM_021095.2;SLC5A6,missense_variant,p.Ala357Ser,ENST00000408041,;SLC5A6,downstream_gene_variant,,ENST00000412471,;SLC5A6,downstream_gene_variant,,ENST00000414408,;SLC5A6,downstream_gene_variant,,ENST00000401463,;SLC5A6,downstream_gene_variant,,ENST00000432106,;SLC5A6,downstream_gene_variant,,ENST00000426119,;SLC5A6,downstream_gene_variant,,ENST00000430186,;SLC5A6,downstream_gene_variant,,ENST00000428518,;SLC5A6,downstream_gene_variant,,ENST00000442731,;SLC5A6,upstream_gene_variant,,ENST00000461319,;SLC5A6,non_coding_transcript_exon_variant,,ENST00000488743,;SLC5A6,non_coding_transcript_exon_variant,,ENST00000476319,;SLC5A6,non_coding_transcript_exon_variant,,ENST00000492069,;SLC5A6,upstream_gene_variant,,ENST00000461757,;SLC5A6,downstream_gene_variant,,ENST00000445802,;SLC5A6,downstream_gene_variant,,ENST00000464538,;SLC5A6,upstream_gene_variant,,ENST00000481751,;	A	ENST00000310574	Transcript	missense_variant	1543/3231	1069/1908	357/635	A/S	Gcc/Tcc		1		-1	SLC5A6	HGNC	HGNC:11041	protein_coding	YES	CCDS1740.1	ENSP00000310208	Q9Y289		UPI000006DE33	NM_021095.2	tolerated(0.09)		10/17		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF140,TIGRFAM_domain:TIGR00813,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	59	27203804	27203804	C	A	1	0	0	0	0	1	0	0	0	14952	710	25	2		2	SLC5A6	2	27203804	Missense_Mutation	SNP	C	C3N-00574_TP		27203804	214989725	9	19305											
PELI1	0	.	GRCh38	chr2	64096535	64096535	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgctttgtactgactgtgTatcagaattactttgacttc	9	17	8	7	0	1	3	1	2	0	1	2	3	1	3	0	0	3	3	0	0	4	6	novel		C3N-00574_TP	C3N-00574_NB	T	T																c.379A>G	p.Thr127Ala	p.T127A	ENST00000358912	5/7	171	132	39	138	138	0	strelka-varscan	PELI1,missense_variant,p.Thr127Ala,ENST00000358912,NM_020651.3;PELI1,downstream_gene_variant,,ENST00000466177,;	C	ENST00000358912	Transcript	missense_variant	822/3750	379/1257	127/418	T/A	Aca/Gca		1		-1	PELI1	HGNC	HGNC:8827	protein_coding	YES	CCDS1876.1	ENSP00000351789	Q96FA3	Q53T26	UPI00000443B7	NM_020651.3	tolerated(1)		5/7		hmmpanther:PTHR12098:SF4,hmmpanther:PTHR12098,PIRSF_domain:PIRSF038886,Pfam_domain:PF04710																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	59	64096535	64096535	T	C	1	0	0	0	0	1	0	0	0	11809	1638	57	5		5	PELI1	2	64096535	Missense_Mutation	SNP	T	C3N-00574_TP	36892731	64096535	178096994	10	19306											
ERMN	0	.	GRCh38	chr2	157321638	157321638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcagcttggctaggttttCgaaatcccagccattcaatt	9	14	8	10	1	2	0	2	0	0	0	4	1	3	0	2	2	2	3	2	2	3	6	rs554539666		C3N-00574_TP	C3N-00574_NB	C	C																c.527G>A	p.Arg176Gln	p.R176Q	ENST00000397283	4/4	313	295	18	248	248	0	strelka-varscan	ERMN,missense_variant,p.Arg163Gln,ENST00000410096,NM_001304344.1,NM_001304345.1,NM_020711.2;ERMN,missense_variant,p.Arg176Gln,ENST00000397283,NM_001009959.2;ERMN,missense_variant,p.Arg143Gln,ENST00000420719,NM_001304346.1;ERMN,downstream_gene_variant,,ENST00000409216,;ERMN,downstream_gene_variant,,ENST00000419116,;ERMN,downstream_gene_variant,,ENST00000411762,;ERMN,downstream_gene_variant,,ENST00000409925,;ERMN,downstream_gene_variant,,ENST00000420317,;ERMN,3_prime_UTR_variant,,ENST00000409395,;	T	ENST00000397283	Transcript	missense_variant	761/3760	527/894	176/297	R/Q	cGa/cAa	rs554539666	1		-1	ERMN	HGNC	HGNC:29208	protein_coding	YES	CCDS42764.1	ENSP00000380453	Q8TAM6		UPI0000208F55	NM_001009959.2	tolerated(1)		4/4		hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF22																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	59	157321638	157321638	C	T	1	0	0	0	0	1	0	0	0	5093	884	31	1		1	ERMN	2	157321638	Missense_Mutation	SNP	C	C3N-00574_TP	93225103	157321638	84871891	11	19307											
CSRNP3	0	.	GRCh38	chr2	165679416	165679416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccttacaccatgacccCggagcaattcgttgactatg	9	10	10	12	2	0	2	0	2	0	0	1	3	0	3	4	2	3	2	4	2	3	4	rs766623860		C3N-00574_TP	C3N-00574_NB	C	C																c.1421C>T	p.Pro474Leu	p.P474L	ENST00000314499	7/7	271	240	31	266	265	1	strelka-varscan	CSRNP3,missense_variant,p.Pro474Leu,ENST00000314499,NM_001172173.1;CSRNP3,missense_variant,p.Pro474Leu,ENST00000342316,NM_024969.3;CSRNP3,missense_variant,p.Pro506Leu,ENST00000409420,;CSRNP3,downstream_gene_variant,,ENST00000421875,;CSRNP3,downstream_gene_variant,,ENST00000409664,;	T	ENST00000314499	Transcript	missense_variant	1797/11788	1421/1758	474/585	P/L	cCg/cTg	rs766623860,COSM32890	1		1	CSRNP3	HGNC	HGNC:30729	protein_coding	YES	CCDS2225.1	ENSP00000318258	Q8WYN3		UPI0000136882	NM_001172173.1	deleterious_low_confidence(0.03)		7/7		hmmpanther:PTHR13580,hmmpanther:PTHR13580:SF13											0,1						MODERATE	1	SNV	5		0,1	1										PASS		.	.												T	3	4	59	165679416	165679416	C	T	1	0	0	0	0	1	0	0	0	3766	652	23	1		1	CSRNP3	2	165679416	Missense_Mutation	SNP	C	C3N-00574_TP	8357778	165679416	76514113	12	19308											
CALCRL	0	.	GRCh38	chr2	187346314	187346314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgacactgtgtaagacGcactacgaagagcttctgag	11	11	11	8	2	1	4	0	2	1	2	1	5	1	4	0	0	2	4	0	0	3	5	rs761424831		C3N-00574_TP	C3N-00574_NB	G	G																c.1256C>T	p.Ala419Val	p.A419V	ENST00000409998	16/16	254	227	27	233	233	0	strelka-varscan-mutect	CALCRL,missense_variant,p.Ala419Val,ENST00000409998,;CALCRL,missense_variant,p.Ala419Val,ENST00000392370,NM_005795.5;CALCRL,missense_variant,p.Ala419Val,ENST00000410068,NM_001271751.1;AC007319.1,intron_variant,,ENST00000412276,;AC007319.1,intron_variant,,ENST00000453517,;	A	ENST00000409998	Transcript	missense_variant	2038/5223	1256/1386	419/461	A/V	gCg/gTg	rs761424831	1		-1	CALCRL	HGNC	HGNC:16709	protein_coding	YES	CCDS2293.1	ENSP00000386972	Q16602		UPI00000503EF		tolerated(0.08)		16/16		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF67,Prints_domain:PR01351																	MODERATE	1	SNV	5			1										PASS		rs761424831	.												A	3	1	59	187346314	187346314	G	A	1	0	0	0	0	1	0	0	0	2270	1087	38	1		1	CALCRL	2	187346314	Missense_Mutation	SNP	G	C3N-00574_TP	21666898	187346314	54847215	13	19309											
BAP1	0	.	GRCh38	chr3	52406261	52406261	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggcacctacctgctgcaGagcctctagtactgtctgac	9	9	10	13	0	2	2	0	1	2	1	2	2	2	2	3	1	5	4	3	1	4	3	novel		C3N-00574_TP	C3N-00574_NB	G	G																c.775C>T	p.=	p.L259L	ENST00000460680	9/17	392	270	122	274	274	0	strelka-varscan-mutect	BAP1,synonymous_variant,p.=,ENST00000460680,NM_004656.3;BAP1,synonymous_variant,p.=,ENST00000296288,;PHF7,upstream_gene_variant,,ENST00000327906,NM_016483.5;BAP1,upstream_gene_variant,,ENST00000469613,;PHF7,upstream_gene_variant,,ENST00000347025,;BAP1,upstream_gene_variant,,ENST00000478368,;BAP1,downstream_gene_variant,,ENST00000470173,;BAP1,upstream_gene_variant,,ENST00000615113,;PHF7,upstream_gene_variant,,ENST00000482327,;BAP1,non_coding_transcript_exon_variant,,ENST00000471532,;BAP1,upstream_gene_variant,,ENST00000466093,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,upstream_gene_variant,,ENST00000490804,;BAP1,downstream_gene_variant,,ENST00000483984,;BAP1,downstream_gene_variant,,ENST00000490917,;	A	ENST00000460680	Transcript	synonymous_variant	1247/3937	775/2190	259/729	L	Ctg/Ttg		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			9/17		hmmpanther:PTHR10589:SF28,hmmpanther:PTHR10589																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	59	52406261	52406261	G	A	1	0	0	0	0	0	0	0	1	1463	933	33	3		3	BAP1	3	52406261	Silent	SNP	G	C3N-00574_TP		52406261	145889298	14	19310											
PLXNA1	0	.	GRCh38	chr3	127030019	127030019	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgagggtgaccgcggcagCaagatggtctcggagatcta	9	7	16	9	4	2	4	0	2	2	2	3	5	2	4	1	4	1	2	1	4	2	1	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.5016C>T	p.=	p.S1672S	ENST00000393409	27/31	125	96	29	83	83	0	strelka-varscan-mutect	PLXNA1,synonymous_variant,p.=,ENST00000393409,NM_032242.3;PLXNA1,upstream_gene_variant,,ENST00000505278,;PLXNA1,non_coding_transcript_exon_variant,,ENST00000503234,;PLXNA1,downstream_gene_variant,,ENST00000503363,;	T	ENST00000393409	Transcript	synonymous_variant	5016/9066	5016/5691	1672/1896	S	agC/agT		1		1	PLXNA1	HGNC	HGNC:9099	protein_coding	YES	CCDS33847.2	ENSP00000377061	Q9UIW2		UPI00001A7983	NM_032242.3			27/31		Pfam_domain:PF08337,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	59	127030019	127030019	C	T	1	0	0	0	0	0	0	0	1	12225	709	25	3		3	PLXNA1	3	127030019	Silent	SNP	C	C3N-00574_TP	74623758	127030019	71265540	15	19311											
NAALADL2	0	.	GRCh38	chr3	175097045	175097045	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaggaaggttccagagacTtcaagaagaatctgactaca	17	7	9	8	0	2	4	1	1	1	3	3	6	3	5	1	2	1	1	1	2	6	3	novel		C3N-00574_TP	C3N-00574_NB	T	T																c.299T>C	p.Leu100Pro	p.L100P	ENST00000454872	2/14	315	282	33	268	268	0	strelka-varscan-mutect	NAALADL2,missense_variant,p.Leu100Pro,ENST00000454872,NM_207015.2;NAALADL2,missense_variant,p.Leu83Pro,ENST00000434257,;NAALADL2-AS3,intron_variant,,ENST00000453180,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000473253,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000485853,;NAALADL2-AS3,intron_variant,,ENST00000436929,;	C	ENST00000454872	Transcript	missense_variant	427/9865	299/2388	100/795	L/P	cTt/cCt		1		1	NAALADL2	HGNC	HGNC:23219	protein_coding	YES	CCDS46960.1	ENSP00000404705	Q58DX5		UPI0000161608	NM_207015.2	deleterious(0)		2/14		hmmpanther:PTHR10404:SF32,hmmpanther:PTHR10404																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	59	175097045	175097045	T	C	1	0	0	0	0	1	0	0	0	10134	1609	56	5		5	NAALADL2	3	175097045	Missense_Mutation	SNP	T	C3N-00574_TP	48067026	175097045	23198514	16	19312											
FAM184B	0	.	GRCh38	chr4	17709131	17709131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaggtggcctgcagctcctCggccttgcgggcgtagtcct	3	10	15	13	3	0	0	0	0	0	0	3	0	2	0	4	4	3	4	4	4	2	3	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.655G>A	p.Glu219Lys	p.E219K	ENST00000265018	2/18	216	190	26	181	181	0	strelka-varscan-mutect	FAM184B,missense_variant,p.Glu219Lys,ENST00000265018,NM_015688.1;	T	ENST00000265018	Transcript	missense_variant	868/6622	655/3183	219/1060	E/K	Gag/Aag		1		-1	FAM184B	HGNC	HGNC:29235	protein_coding	YES	CCDS47033.1	ENSP00000265018	Q9ULE4		UPI000020BD7C	NM_015688.1	tolerated(0.22)		2/18		hmmpanther:PTHR18870:SF8,hmmpanther:PTHR18870,Pfam_domain:PF15665,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		rs899848754	.												T	3	4	59	17709131	17709131	C	T	1	0	0	0	0	1	0	0	0	5359	893	31	1		1	FAM184B	4	17709131	Missense_Mutation	SNP	C	C3N-00574_TP		17709131	172505424	17	19313											
ADGRL3	0	.	GRCh38	chr4	62070683	62070683	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccacagagagtgttacCaccagcacccagaccgaacc	12	3	9	17	2	0	2	0	0	0	2	0	4	0	2	7	0	3	2	7	0	2	1	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.4185C>G	p.=	p.T1395T	ENST00000514591	25/25	212	187	25	171	171	0	strelka-varscan-mutect	ADGRL3,synonymous_variant,p.=,ENST00000514591,NM_015236.4;ADGRL3,synonymous_variant,p.=,ENST00000506720,;ADGRL3,synonymous_variant,p.=,ENST00000506746,;ADGRL3,synonymous_variant,p.=,ENST00000507625,;ADGRL3,synonymous_variant,p.=,ENST00000508946,;ADGRL3,synonymous_variant,p.=,ENST00000514996,;ADGRL3,synonymous_variant,p.=,ENST00000502815,;ADGRL3,3_prime_UTR_variant,,ENST00000512091,NM_001322246.1;ADGRL3,3_prime_UTR_variant,,ENST00000509896,;ADGRL3,3_prime_UTR_variant,,ENST00000511324,;ADGRL3,3_prime_UTR_variant,,ENST00000508693,;ADGRL3,3_prime_UTR_variant,,ENST00000507164,;ADGRL3,3_prime_UTR_variant,,ENST00000506700,;ADGRL3,3_prime_UTR_variant,,ENST00000504896,;ADGRL3,3_prime_UTR_variant,,ENST00000514157,;ADGRL3-AS1,downstream_gene_variant,,ENST00000506704,;ADGRL3-AS1,downstream_gene_variant,,ENST00000504135,;ADGRL3-AS1,downstream_gene_variant,,ENST00000509461,;	G	ENST00000514591	Transcript	synonymous_variant	4514/6297	4185/4410	1395/1469	T	acC/acG		1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4			25/25		Pfam_domain:PF02354																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	59	62070683	62070683	C	G	1	0	0	0	0	0	0	0	1	377	581	21	4		4	ADGRL3	4	62070683	Silent	SNP	C	C3N-00574_TP	44361552	62070683	128143872	18	19314											
FAM218A	0	.	GRCh38	chr4	164957285	164957286	+	Frame_Shift_Del	DEL	CT	CT	-																															aatcgttttctccgcgtgccCtgtcagccgctcatggtgcc																								novel		C3N-00574_TP	C3N-00574_NB	CT	CT																c.263_264delCT	p.Pro88ArgfsTer12	p.P88Rfs*12	ENST00000513876	1/1	392	357	35	289	289	0	sindel-varindel-pindel	FAM218A,frameshift_variant,p.Pro88ArgfsTer12,ENST00000513876,NM_153027.1;TRIM61,intron_variant,,ENST00000329314,NM_001012414.2;	-	ENST00000513876	Transcript	frameshift_variant	338-339/2175	263-264/474	88/157	P/X	cCT/c		1		1	FAM218A	HGNC	HGNC:26466	protein_coding	YES	CCDS3807.1	ENSP00000427428	Q96MZ4		UPI000006D0F5	NM_153027.1			1/1																			HIGH		deletion				1										PASS		.	.												-	7	5	59	164957285	164957285	CT	-	1	0	1	0	1	0	0	0	0	5408	681	24	0		0	FAM218A	4	164957285	Frame_Shift_Del	DEL	CT	C3N-00574_TP	102886602	164957285	25257270	19	19315											
RASGRF2	0	.	GRCh38	chr5	81180265	81180265	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtcctccgtcactgggTctcaaagcacgcacaggtaa	11	7	10	13	3	2	0	2	0	1	0	5	1	4	0	2	2	2	3	2	2	3	1	novel		C3N-00574_TP	C3N-00574_NB	T	T																c.2777T>C	p.Val926Ala	p.V926A	ENST00000265080	18/27	136	118	18	115	115	0	strelka-varscan-mutect	RASGRF2,missense_variant,p.Val926Ala,ENST00000265080,NM_006909.2;RASGRF2,missense_variant,p.Val926Ala,ENST00000503795,;	C	ENST00000265080	Transcript	missense_variant	2844/8167	2777/3714	926/1237	V/A	gTc/gCc		1		1	RASGRF2	HGNC	HGNC:9876	protein_coding	YES	CCDS4052.1	ENSP00000265080	O14827		UPI0000047ABF	NM_006909.2	deleterious(0.03)		18/27		hmmpanther:PTHR23113:SF187,hmmpanther:PTHR23113,Gene3D:2ii0A01,SMART_domains:SM00229,Superfamily_domains:0041591																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	59	81180265	81180265	T	C	1	0	0	0	0	1	0	0	0	13234	1667	58	5		5	RASGRF2	5	81180265	Missense_Mutation	SNP	T	C3N-00574_TP		81180265	100357994	20	19316											
SMAD5	0	.	GRCh38	chr5	136160855	136160855	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgatttttgtttttcaGtcttacctccagtattagtg	6	22	6	7	0	2	1	1	1	1	0	3	1	3	1	2	0	1	2	2	0	3	9	novel		C3N-00574_TP	C3N-00574_NB	G	G																c.404-1G>T		p.X135_splice	ENST00000545279		133	125	8	108	107	1	varscan-mutect	SMAD5,splice_acceptor_variant,,ENST00000545279,NM_005903.6,NM_001001419.2;SMAD5,splice_acceptor_variant,,ENST00000545620,NM_001001420.2;SMAD5,upstream_gene_variant,,ENST00000507637,;SMAD5,intron_variant,,ENST00000514777,;	T	ENST00000545279	Transcript	splice_acceptor_variant	-/7012	404/1398	135/465				1		1	SMAD5	HGNC	HGNC:6771	protein_coding	YES	CCDS75308.1	ENSP00000441954	Q99717	Q68DB7	UPI0000135A7E	NM_005903.6,NM_001001419.2				3/7																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	59	136160855	136160855	G	T	1	0	0	0	0	0	0	1	0	15054	1043	36	2		2	SMAD5	5	136160855	Splice_Site	SNP	G	C3N-00574_TP	54980590	136160855	45377404	21	19317											
UBTD2	0	.	GRCh38	chr5	172234181	172234181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccagttcatgatcattgCtctcaaaagcatgtgcagca	11	11	9	10	0	3	1	3	1	1	0	4	1	3	1	1	0	5	5	1	0	2	2	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.248G>A	p.Ser83Asn	p.S83N	ENST00000393792	2/3	384	356	28	294	294	0	strelka-mutect	UBTD2,missense_variant,p.Ser83Asn,ENST00000393792,NM_152277.2;	T	ENST00000393792	Transcript	missense_variant	654/3301	248/705	83/234	S/N	aGc/aAc		1		-1	UBTD2	HGNC	HGNC:24463	protein_coding	YES	CCDS4379.2	ENSP00000377381	Q8WUN7		UPI000020C12C	NM_152277.2	tolerated(0.19)		2/3		Pfam_domain:PF16455,hmmpanther:PTHR13609,hmmpanther:PTHR13609:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	59	172234181	172234181	C	T	1	0	0	0	0	1	0	0	0	17432	797	28	3		3	UBTD2	5	172234181	Missense_Mutation	SNP	C	C3N-00574_TP	36073326	172234181	9304078	22	19318											
KCNK17	0	.	GRCh38	chr6	39304116	39304116	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagagcccgccagccaccGcgccttgtcaggatcctgtg	6	6	12	17	3	1	1	1	0	0	1	2	2	2	2	7	1	2	0	7	1	0	1	rs566450809		C3N-00574_TP	C3N-00574_NB	G	G																c.529C>G	p.Arg177Gly	p.R177G	ENST00000373231	4/5	183	159	24	94	94	0	strelka-varscan-mutect	KCNK17,missense_variant,p.Arg177Gly,ENST00000453413,NM_001135111.1;KCNK17,missense_variant,p.Arg177Gly,ENST00000373231,NM_031460.3;KCNK17,non_coding_transcript_exon_variant,,ENST00000503878,;	C	ENST00000373231	Transcript	missense_variant	762/1658	529/999	177/332	R/G	Cgg/Ggg	rs566450809	1		-1	KCNK17	HGNC	HGNC:14465	protein_coding	YES	CCDS4842.1	ENSP00000362328	Q96T54		UPI0000127A59	NM_031460.3	deleterious(0.03)		4/5		hmmpanther:PTHR11003:SF24,hmmpanther:PTHR11003,PIRSF_domain:PIRSF038061,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		rs566450809	.												C	3	2	59	39304116	39304116	G	C	1	0	0	0	0	1	0	0	0	7981	1086	38	4		4	KCNK17	6	39304116	Missense_Mutation	SNP	G	C3N-00574_TP		39304116	131501863	23	19319											
POU6F2	0	.	GRCh38	chr7	39433236	39433236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccagatcctgcccgtgAtcaacacccagggcatcacg	11	5	10	15	2	2	2	2	1	0	1	3	3	3	3	4	2	3	1	4	2	2	0	novel		C3N-00574_TP	C3N-00574_NB	A	A																c.1186A>G	p.Ile396Val	p.I396V	ENST00000403058	8/11	218	186	32	163	163	0	strelka-varscan-mutect	POU6F2,missense_variant,p.Ile396Val,ENST00000518318,NM_001166018.1;POU6F2,missense_variant,p.Ile341Val,ENST00000559001,;POU6F2,missense_variant,p.Ile396Val,ENST00000403058,NM_007252.3;POU6F2,missense_variant,p.Ile341Val,ENST00000524147,;POU6F2,missense_variant,p.Ile388Val,ENST00000520104,;POU6F2,missense_variant,p.Ile95Val,ENST00000416452,;	G	ENST00000403058	Transcript	missense_variant	1340/2335	1186/2076	396/691	I/V	Atc/Gtc		1		1	POU6F2	HGNC	HGNC:21694	protein_coding	YES	CCDS34620.2	ENSP00000384004	P78424		UPI0000480E81	NM_007252.3	tolerated(0.24)		8/11		hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF68																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	59	39433236	39433236	A	G	1	0	0	0	0	1	0	0	0	12401	333	12	5		5	POU6F2	7	39433236	Missense_Mutation	SNP	A	C3N-00574_TP		39433236	119912737	24	19320											
EGFR	0	.	GRCh38	chr7	55174772	55174786	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-																															aaaattcccgtcgctatcaaGgaattaagagaagcaacatc																								rs121913421		C3N-00574_TP	C3N-00574_NB	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC																c.2235_2249delGGAATTAAGAGAAGC	p.Glu746_Ala750del	p.E746_A750del	ENST00000275493	19/28	3484	212	3272	432	432	0	sindel-varindel-pindel	EGFR,inframe_deletion,p.Glu746_Ala750del,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000454757,;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	-	ENST00000275493	Transcript	inframe_deletion	2412-2426/9821	2235-2249/3633	745-750/1210	KELREA/K	aaGGAATTAAGAGAAGCa/aaa	rs121913421,COSM6223	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1						MODERATE	1	deletion	1		1,1	1										PASS		.	.												-	7	5	59	55174772	55174772	GGAATTAAGAGAAGC	-	1	0	1	0	1	0	0	0	0	4803	991	35	0		0	EGFR	7	55174772	In_Frame_Del	DEL	GGAATTAAGAGAAGC	C3N-00574_TP	15741536	55174772	104171201	25	19321			1	15		2	2	15	N	GGAATTAAGAGAAGC_C	2.901262e-05
EGFR	0	.	GRCh38	chr7	55174786	55174786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcaaggaattaagagaagCaacatctccgaaagccaaca	19	6	7	9	1	2	1	1	0	1	1	3	4	2	2	2	1	4	1	2	1	8	2	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.2249C>A	p.Ala750Glu	p.A750E	ENST00000275493	19/28	240	179	61	330	330	0	varscan-mutect	EGFR,missense_variant,p.Ala750Glu,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ala705Glu,ENST00000454757,;EGFR,missense_variant,p.Ala705Glu,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	A	ENST00000275493	Transcript	missense_variant	2426/9821	2249/3633	750/1210	A/E	gCa/gAa		1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	tolerated(0.45)		19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs1468115455	.												A	3	1	59	55174786	55174786	C	A	1	0	0	0	0	1	0	0	0	4803	710	25	2		2	EGFR	7	55174786	Missense_Mutation	SNP	C	C3N-00574_TP	14	55174786	104171187	26	19322			1	15		2	2	15	N	GGAATTAAGAGAAGC_C	2.901262e-05
FLNC	0	.	GRCh38	chr7	128837209	128837209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaaccagcccgtggagaaCgcccgggaggccatgcagca	10	2	13	16	3	0	1	0	0	0	1	0	3	0	2	5	3	5	2	5	3	2	0	rs370425863		C3N-00574_TP	C3N-00574_NB	C	C																c.651C>T	p.=	p.N217N	ENST00000325888	3/48	222	200	22	134	134	0	strelka-varscan-mutect	FLNC,synonymous_variant,p.=,ENST00000325888,NM_001458.4;FLNC,synonymous_variant,p.=,ENST00000346177,NM_001127487.1;FLNC,upstream_gene_variant,,ENST00000388853,;	T	ENST00000325888	Transcript	synonymous_variant	912/9188	651/8178	217/2725	N	aaC/aaT	rs370425863	1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4			3/48		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00033,Superfamily_domains:SSF47576																	LOW	1	SNV	1			1										PASS		rs370425863	.												T	2	4	59	128837209	128837209	C	T	1	0	0	0	0	0	0	0	1	5791	535	19	1		1	FLNC	7	128837209	Silent	SNP	C	C3N-00574_TP	73662423	128837209	30508764	27	19323											
PRSS1	0	.	GRCh38	chr7	142750650	142750650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctgaattctggctacCacttctgtggtggctccctc	4	14	9	14	0	2	1	0	1	2	0	5	1	4	1	3	3	1	2	3	3	2	3	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.136C>A	p.His46Asn	p.H46N	ENST00000311737	2/5	379	348	31	335	335	0	varscan-mutect	PRSS1,missense_variant,p.His46Asn,ENST00000486171,;PRSS1,missense_variant,p.His46Asn,ENST00000612126,;PRSS1,missense_variant,p.His46Asn,ENST00000311737,NM_002769.4;PRSS1,missense_variant,p.His46Asn,ENST00000619214,;TRBC2,intron_variant,,ENST00000637077,;TRBC2,intron_variant,,ENST00000610416,;TRBC2,intron_variant,,ENST00000636844,;PRSS1,upstream_gene_variant,,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000485223,;PRSS1,non_coding_transcript_exon_variant,,ENST00000497041,;PRSS1,upstream_gene_variant,,ENST00000463701,;	A	ENST00000311737	Transcript	missense_variant	142/800	136/744	46/247	H/N	Cac/Aac		1		1	PRSS1	HGNC	HGNC:9475	protein_coding	YES	CCDS5872.1	ENSP00000308720	P07477		UPI0000001309	NM_002769.4	tolerated(0.08)		2/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24264:SF12,hmmpanther:PTHR24264,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	59	142750650	142750650	C	A	1	0	0	0	0	1	0	0	0	12761	594	21	2		2	PRSS1	7	142750650	Missense_Mutation	SNP	C	C3N-00574_TP	13913441	142750650	16595323	28	19324											
PENK	0	.	GRCh38	chr8	56441305	56441305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctccgtatcttttttcCatttcaggaacttctttgga	8	18	5	10	1	3	0	1	0	2	0	6	2	6	2	3	2	1	1	3	2	3	7			C3N-00574_TP	C3N-00574_NB	C	C																c.771G>A	p.Met257Ile	p.M257I	ENST00000314922	2/2	77	70	7	78	78	0	varscan-mutect	PENK,missense_variant,p.Met257Ile,ENST00000314922,NM_006211.3;PENK,missense_variant,p.Met257Ile,ENST00000451791,NM_001135690.1;PENK,intron_variant,,ENST00000517415,;PENK,downstream_gene_variant,,ENST00000518770,;PENK,downstream_gene_variant,,ENST00000523051,;PENK,downstream_gene_variant,,ENST00000518974,;RP11-17A4.2,upstream_gene_variant,,ENST00000518662,;PENK,downstream_gene_variant,,ENST00000523274,;PENK,upstream_gene_variant,,ENST00000520589,;PENK,downstream_gene_variant,,ENST00000521153,;	T	ENST00000314922	Transcript	missense_variant	848/1199	771/804	257/267	M/I	atG/atA	COSM233087	1		-1	PENK	HGNC	HGNC:8831	protein_coding	YES	CCDS6168.1	ENSP00000324248	P01210	A0A024R7V4	UPI00001315A9	NM_006211.3	tolerated(0.11)		2/2		Prints_domain:PR01029,hmmpanther:PTHR11438,hmmpanther:PTHR11438:SF3											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	59	56441305	56441305	C	T	1	0	0	0	0	1	0	0	0	11815	594	21	3		3	PENK	8	56441305	Missense_Mutation	SNP	C	C3N-00574_TP		56441305	88697331	29	19325											
PIP4K2A	0	.	GRCh38	chr10	22573424	22573424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtacatgcccaagaactgggGaagaagggtgatcccatgac	13	6	13	9	0	0	4	0	2	0	2	1	5	1	5	2	3	3	1	2	3	5	1	novel		C3N-00574_TP	C3N-00574_NB	G	G																c.526C>T	p.Pro176Ser	p.P176S	ENST00000376573	5/10	198	182	16	175	175	0	strelka-varscan-mutect	PIP4K2A,missense_variant,p.Pro176Ser,ENST00000376573,NM_005028.4;PIP4K2A,missense_variant,p.Pro117Ser,ENST00000545335,;PIP4K2A,missense_variant,p.Pro22Ser,ENST00000323883,;PIP4K2A,missense_variant,p.Pro22Ser,ENST00000604912,;PIP4K2A,non_coding_transcript_exon_variant,,ENST00000422321,;	A	ENST00000376573	Transcript	missense_variant	755/3802	526/1221	176/406	P/S	Ccc/Tcc		1		-1	PIP4K2A	HGNC	HGNC:8997	protein_coding	YES	CCDS7141.1	ENSP00000365757	P48426		UPI0000001052	NM_005028.4	deleterious(0)		5/10		Gene3D:2gk9B01,Pfam_domain:PF01504,PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF21,SMART_domains:SM00330,Superfamily_domains:SSF56104																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	59	22573424	22573424	G	A	1	0	0	0	0	1	0	0	0	12031	1174	41	3		3	PIP4K2A	10	22573424	Missense_Mutation	SNP	G	C3N-00574_TP		22573424	111223998	30	19326											
MUC5B	0	.	GRCh38	chr11	1251315	1251315	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggccacaccctcctccaCtctggggacgacccggatcc	7	5	9	20	3	1	0	0	0	1	0	4	3	4	2	6	4	0	0	6	4	0	0	rs751375768		C3N-00574_TP	C3N-00574_NB	C	C																c.14435C>G	p.Thr4812Ser	p.T4812S	ENST00000529681	31/49	482	385	97	268	268	0	strelka-varscan-mutect	MUC5B,missense_variant,p.Thr4812Ser,ENST00000529681,NM_002458.2;RP11-532E4.2,upstream_gene_variant,,ENST00000532061,;	G	ENST00000529681	Transcript	missense_variant	14493/17911	14435/17289	4812/5762	T/S	aCt/aGt	rs751375768	1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2	tolerated(0.39)		31/49		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs751375768	.												G	3	3	59	1251315	1251315	C	G	1	0	0	0	0	1	0	0	0	9979	565	20	4		4	MUC5B	11	1251315	Missense_Mutation	SNP	C	C3N-00574_TP		1251315	133835307	31	19327											
APOA4	0	.	GRCh38	chr11	116821446	116821446	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgactttgaattcgtcagcGtagggcgtaaggcgtccctt	7	13	12	9	4	1	2	1	2	0	0	3	2	2	2	1	2	1	2	1	2	3	6	rs201385362		C3N-00574_TP	C3N-00574_NB	G	G																c.612C>T	p.=	p.Y204Y	ENST00000357780	3/3	545	490	55	421	421	0	strelka-varscan-mutect	APOA4,synonymous_variant,p.=,ENST00000357780,NM_000482.3;	A	ENST00000357780	Transcript	synonymous_variant	727/1473	612/1191	204/396	Y	taC/taT	rs201385362	1		-1	APOA4	HGNC	HGNC:602	protein_coding	YES	CCDS31681.1	ENSP00000350425	P06727		UPI00001AE660	NM_000482.3			3/3		hmmpanther:PTHR18976:SF1,hmmpanther:PTHR18976,Gene3D:1.20.120.20,Pfam_domain:PF01442,Pfam_domain:PF01442,Superfamily_domains:0053393																	LOW	1	SNV	1			1										PASS		rs201385362	.												A	2	1	59	116821446	116821446	G	A	1	0	0	0	0	0	0	0	1	905	1140	40	1		1	APOA4	11	116821446	Silent	SNP	G	C3N-00574_TP	115570131	116821446	18265176	32	19328											
SIAE	0	.	GRCh38	chr11	124669489	124669489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctgcagcaccatatcatTattgatgtatgaagcaaagc	13	12	7	9	0	2	2	1	2	1	0	2	2	2	2	1	0	4	4	1	0	5	5	novel		C3N-00574_TP	C3N-00574_NB	T	T																c.100A>G	p.Asn34Asp	p.N34D	ENST00000263593	2/10	501	365	136	447	447	0	strelka-varscan-mutect	SIAE,missense_variant,p.Asn34Asp,ENST00000263593,NM_170601.4;SIAE,5_prime_UTR_variant,,ENST00000545756,;SIAE,5_prime_UTR_variant,,ENST00000618733,NM_001199922.1;SPA17,upstream_gene_variant,,ENST00000532692,;SPA17,upstream_gene_variant,,ENST00000227135,NM_017425.3;SIAE,non_coding_transcript_exon_variant,,ENST00000525730,;SPA17,upstream_gene_variant,,ENST00000529498,;SIAE,non_coding_transcript_exon_variant,,ENST00000436137,;SIAE,non_coding_transcript_exon_variant,,ENST00000533613,;	C	ENST00000263593	Transcript	missense_variant	273/5583	100/1572	34/523	N/D	Aat/Gat		1		-1	SIAE	HGNC	HGNC:18187	protein_coding	YES	CCDS8449.1	ENSP00000263593	Q9HAT2		UPI0000073B2D	NM_170601.4	tolerated(1)		2/10		hmmpanther:PTHR22901,hmmpanther:PTHR22901:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	59	124669489	124669489	T	C	1	0	0	0	0	1	0	0	0	14562	1754	61	5		5	SIAE	11	124669489	Missense_Mutation	SNP	T	C3N-00574_TP	7848043	124669489	10417133	33	19329											
SLC6A12	0	.	GRCh38	chr12	197399	197399	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactcggccacttcagaaatGggcaccccttgctcttggga	8	9	11	13	1	2	1	1	0	1	1	3	3	2	2	3	3	1	2	3	3	1	3	rs753915121		C3N-00574_TP	C3N-00574_NB	G	G																c.1053C>A	p.=	p.P351P	ENST00000424061	11/17	159	143	16	102	102	0	strelka-varscan-mutect	SLC6A12,synonymous_variant,p.=,ENST00000424061,NM_003044.4;SLC6A12,synonymous_variant,p.=,ENST00000397296,;SLC6A12,synonymous_variant,p.=,ENST00000359674,NM_001122847.2,NM_001122848.2;SLC6A12,synonymous_variant,p.=,ENST00000536824,NM_001206931.1;RP11-283I3.1,downstream_gene_variant,,ENST00000544067,;SLC6A12,non_coding_transcript_exon_variant,,ENST00000535498,;SLC6A12,downstream_gene_variant,,ENST00000538272,;SLC6A12,non_coding_transcript_exon_variant,,ENST00000545058,;SLC6A12,non_coding_transcript_exon_variant,,ENST00000542825,;SLC6A12,non_coding_transcript_exon_variant,,ENST00000544782,;SLC6A12,downstream_gene_variant,,ENST00000538580,;SLC6A12,downstream_gene_variant,,ENST00000540094,;	T	ENST00000424061	Transcript	synonymous_variant	1608/3332	1053/1845	351/614	P	ccC/ccA	rs753915121	1		-1	SLC6A12	HGNC	HGNC:11045	protein_coding	YES	CCDS8501.1	ENSP00000399136	P48065		UPI000013C8DB	NM_003044.4			11/17		Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF118																	LOW	1	SNV	1			1										PASS		rs753915121	.												T	2	4	59	197399	197399	G	T	1	0	0	0	0	0	0	0	1	14958	1335	47	2		2	SLC6A12	12	197399	Silent	SNP	G	C3N-00574_TP		197399	133077910	34	19330											
H1FNT	0	.	GRCh38	chr12	48329588	48329588	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcggccgccacgaagcGcccagggggcaggccaaggc	10	0	17	14	4	0	1	0	0	0	1	0	2	0	1	4	5	2	1	4	5	3	0			C3N-00574_TP	C3N-00574_NB	G	G																c.297G>T	p.=	p.A99A	ENST00000335017	1/1	350	306	44	245	244	1	strelka-varscan-mutect	H1FNT,synonymous_variant,p.=,ENST00000335017,NM_181788.1;RP11-370I10.10,upstream_gene_variant,,ENST00000612739,;RP11-370I10.4,downstream_gene_variant,,ENST00000549699,;	T	ENST00000335017	Transcript	synonymous_variant	609/1300	297/768	99/255	A	gcG/gcT	COSM3792621	1		1	H1FNT	HGNC	HGNC:24893	protein_coding	YES	CCDS8762.1	ENSP00000334805	Q75WM6	A0A140VK96	UPI00001AA15C	NM_181788.1			1/1		hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF14											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	59	48329588	48329588	G	T	1	0	0	0	0	0	0	0	1	6803	1074	38	1		1	H1FNT	12	48329588	Silent	SNP	G	C3N-00574_TP	48132189	48329588	84945721	35	19331											
KRT2	0	.	GRCh38	chr12	52649923	52649923	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgctcacctttttaagCgtcacaaaatcattctcagc	10	13	4	14	2	5	0	4	0	2	0	7	0	5	0	1	0	2	1	1	0	3	4	rs780098277		C3N-00574_TP	C3N-00574_NB	C	C																c.852G>C	p.=	p.T284T	ENST00000309680	3/9	428	276	152	339	339	0	strelka-varscan-mutect	KRT2,synonymous_variant,p.=,ENST00000309680,NM_000423.2;KRT2,non_coding_transcript_exon_variant,,ENST00000547106,;	G	ENST00000309680	Transcript	synonymous_variant	874/2403	852/1920	284/639	T	acG/acC	rs780098277,COSM401351,COSM940803	1		-1	KRT2	HGNC	HGNC:6439	protein_coding	YES	CCDS8835.1	ENSP00000310861	P35908		UPI0000367804	NM_000423.2			3/9		hmmpanther:PTHR23239:SF134,hmmpanther:PTHR23239,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF64593,Prints_domain:PR01276											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs780098277	.												G	2	3	59	52649923	52649923	C	G	1	0	0	0	0	0	0	0	1	8339	755	27	4		4	KRT2	12	52649923	Silent	SNP	C	C3N-00574_TP	4320335	52649923	80625386	36	19332											
LRIG3	0	.	GRCh38	chr12	58877752	58877752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatcatctttggtccagttCagtttagggggagggcttcc	6	14	12	9	0	3	0	2	0	1	0	5	1	5	1	2	4	0	3	2	4	2	6	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.2184G>A	p.=	p.L728L	ENST00000320743	15/19	2372	1306	1066	314	314	0	strelka-varscan-mutect	LRIG3,synonymous_variant,p.=,ENST00000320743,NM_153377.4;LRIG3,synonymous_variant,p.=,ENST00000379141,NM_001136051.2;LRIG3,upstream_gene_variant,,ENST00000550825,;LRIG3,3_prime_UTR_variant,,ENST00000433272,;LRIG3,upstream_gene_variant,,ENST00000552646,;LRIG3,downstream_gene_variant,,ENST00000547329,;	T	ENST00000320743	Transcript	synonymous_variant	2471/4070	2184/3360	728/1119	L	ctG/ctA		1		-1	LRIG3	HGNC	HGNC:30991	protein_coding	YES	CCDS8960.1	ENSP00000326759	Q6UXM1		UPI0000035BB5	NM_153377.4			15/19		PROSITE_profiles:PS50835,hmmpanther:PTHR24367:SF242,hmmpanther:PTHR24367,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	59	58877752	58877752	C	T	1	0	0	0	0	0	0	0	1	8841	813	29	3		3	LRIG3	12	58877752	Silent	SNP	C	C3N-00574_TP	6227829	58877752	74397557	37	19333											
MED4	0	.	GRCh38	chr13	48077176	48077176	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactgcttgaggagtccgttGacataatctctacatcatct	10	14	7	10	1	3	2	1	2	2	0	5	3	4	3	1	1	3	2	1	1	3	5	novel		C3N-00574_TP	C3N-00574_NB	G	G																c.776C>G	p.Ser259Ter	p.S259*	ENST00000258648	7/7	110	73	37	163	163	0	strelka-varscan-mutect	MED4,stop_gained,p.Ser259Ter,ENST00000258648,NM_014166.3;MED4,stop_gained,p.Ser213Ter,ENST00000378586,NM_001270629.1;MED4,stop_gained,p.Ser237Ter,ENST00000417167,;MED4-AS1,non_coding_transcript_exon_variant,,ENST00000422483,;MED4,stop_gained,p.Ser90Ter,ENST00000495013,;	C	ENST00000258648	Transcript	stop_gained	802/2022	776/813	259/270	S/*	tCa/tGa		1		-1	MED4	HGNC	HGNC:17903	protein_coding	YES	CCDS9408.1	ENSP00000258648	Q9NPJ6	A0A024RDY7	UPI0000129871	NM_014166.3			7/7		Low_complexity_(Seg):seg,hmmpanther:PTHR13208,hmmpanther:PTHR13208:SF2																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	59	48077176	48077176	G	C	1	0	0	0	0	0	1	0	0	9389	1294	45	4		4	MED4	13	48077176	Nonsense_Mutation	SNP	G	C3N-00574_TP		48077176	66287152	38	19334											
PCDH8	0	.	GRCh38	chr13	52848309	52848309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagggtcccgatgaccgtgCcgggggcatcctcctcgaag	6	6	14	15	4	0	1	0	1	0	0	4	3	3	1	6	3	1	1	6	3	1	0	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.128G>A	p.Gly43Asp	p.G43D	ENST00000377942	1/3	188	161	27	168	168	0	strelka-varscan-mutect	PCDH8,missense_variant,p.Gly43Asp,ENST00000377942,NM_002590.3;PCDH8,missense_variant,p.Gly43Asp,ENST00000338862,NM_032949.2;PCDH8,upstream_gene_variant,,ENST00000613548,;	T	ENST00000377942	Transcript	missense_variant	332/5088	128/3213	43/1070	G/D	gGc/gAc		1		-1	PCDH8	HGNC	HGNC:8660	protein_coding	YES	CCDS9438.1	ENSP00000367177	O95206		UPI0000072D47	NM_002590.3	deleterious(0.02)		1/3		Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF46,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	59	52848309	52848309	C	T	1	0	0	0	0	1	0	0	0	11604	739	26	3		3	PCDH8	13	52848309	Missense_Mutation	SNP	C	C3N-00574_TP	4771133	52848309	61516019	39	19335											
SPRY2	0	.	GRCh38	chr13	80337233	80337235	+	In_Frame_Del	DEL	AGC	AGC	-																															gcttaagctcacctggcttgAgctcagatttgggttgcacc																								novel		C3N-00574_TP	C3N-00574_NB	AGC	AGC																c.471_473delGCT	p.Glu157_Leu158delinsAsp	p.E157_L158delinsD	ENST00000377102	2/2	76	70	6	75	75	0	sindel-varindel-pindel	SPRY2,inframe_deletion,p.Glu157_Leu158delinsAsp,ENST00000377102,NM_001318537.1;SPRY2,inframe_deletion,p.Glu157_Leu158delinsAsp,ENST00000377104,NM_005842.2;	-	ENST00000377102	Transcript	inframe_deletion	1449-1451/2708	471-473/948	157-158/315	EL/D	gaGCTc/gac		1		-1	SPRY2	HGNC	HGNC:11270	protein_coding	YES	CCDS9463.1	ENSP00000366306	O43597		UPI0000001301	NM_001318537.1			2/2		hmmpanther:PTHR12365,hmmpanther:PTHR12365:SF8																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	59	80337233	80337233	AGC	-	1	0	1	0	1	0	0	0	0	15462	304	11	0		0	SPRY2	13	80337233	In_Frame_Del	DEL	AGC	C3N-00574_TP	27488924	80337233	34027095	40	19336											
CHD2	0	.	GRCh38	chr15	92953430	92953430	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatcattcctctcctacCtgttccaccaacaccagctg	9	11	3	18	0	2	0	1	0	1	0	5	0	4	0	7	0	3	2	7	0	3	4	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.1576C>G	p.Leu526Val	p.L526V	ENST00000394196	14/39	418	339	79	379	379	0	strelka-mutect	CHD2,missense_variant,p.Leu526Val,ENST00000394196,NM_001271.3;CHD2,missense_variant,p.Leu526Val,ENST00000626874,;CHD2,downstream_gene_variant,,ENST00000420239,NM_001042572.2;CHD2,downstream_gene_variant,,ENST00000626782,;CHD2,downstream_gene_variant,,ENST00000637613,;CHD2,non_coding_transcript_exon_variant,,ENST00000635856,;CHD2,non_coding_transcript_exon_variant,,ENST00000628181,;CHD2,upstream_gene_variant,,ENST00000627200,;CHD2,missense_variant,p.Leu317Val,ENST00000636881,;CHD2,non_coding_transcript_exon_variant,,ENST00000637572,;RP11-437B10.1,downstream_gene_variant,,ENST00000630790,;CHD2,downstream_gene_variant,,ENST00000630016,;	G	ENST00000394196	Transcript	missense_variant	2152/9363	1576/5487	526/1828	L/V	Ctg/Gtg		1		1	CHD2	HGNC	HGNC:1917	protein_coding	YES	CCDS10374.2	ENSP00000377747	O14647		UPI0000E8A85C	NM_001271.3	deleterious(0)		14/39		PROSITE_profiles:PS51192,hmmpanther:PTHR10799:SF538,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	59	92953430	92953430	C	G	1	0	0	0	0	1	0	0	0	3084	680	24	4		4	CHD2	15	92953430	Missense_Mutation	SNP	C	C3N-00574_TP		92953430	9037759	41	19337											
USP10	0	.	GRCh38	chr16	84745613	84745613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctggtttctgaaaagcagGttgaagtcaaagaagggctt	12	10	12	7	0	2	3	1	2	1	1	2	3	2	3	1	3	1	4	1	3	5	3	rs769376538		C3N-00574_TP	C3N-00574_NB	G	G																c.1144G>A	p.Val382Ile	p.V382I	ENST00000570191	5/15	202	191	11	161	159	2	varscan-mutect	USP10,missense_variant,p.Val378Ile,ENST00000219473,NM_005153.2;USP10,missense_variant,p.Val382Ile,ENST00000570191,NM_001272075.1;USP10,missense_variant,p.Val3Ile,ENST00000569038,;USP10,intron_variant,,ENST00000563892,;USP10,intron_variant,,ENST00000570053,;USP10,downstream_gene_variant,,ENST00000562283,;USP10,downstream_gene_variant,,ENST00000562743,;USP10,3_prime_UTR_variant,,ENST00000540269,;USP10,intron_variant,,ENST00000563048,;USP10,downstream_gene_variant,,ENST00000563386,;USP10,downstream_gene_variant,,ENST00000566512,;USP10,downstream_gene_variant,,ENST00000563023,;	A	ENST00000570191	Transcript	missense_variant	1340/2717	1144/2409	382/802	V/I	Gtt/Att	rs769376538,COSM4998865	1		1	USP10	HGNC	HGNC:12608	protein_coding	YES	CCDS62004.1	ENSP00000457411	Q14694		UPI0001C67AA8	NM_001272075.1	tolerated(0.1)		5/15													0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs769376538	.												A	3	1	59	84745613	84745613	G	A	1	0	0	0	0	1	0	0	0	17575	1261	44	3		3	USP10	16	84745613	Missense_Mutation	SNP	G	C3N-00574_TP		84745613	5592732	42	19338											
TP53	0	.	GRCh38	chr17	7674250	7674254	+	Frame_Shift_Del	DEL	CACAT	CACAT	-																															cgcccatgcaggaactgttaCacatgtagttgtagtggatg																										C3N-00574_TP	C3N-00574_NB	CACAT	CACAT																c.709_713delATGTG	p.Met237Ter	p.M237*	ENST00000269305	7/11	366	195	171	303	303	0	sindel-varindel-pindel	TP53,frameshift_variant,p.Met237Ter,ENST00000617185,NM_001126114.2;TP53,frameshift_variant,p.Met237Ter,ENST00000420246,;TP53,frameshift_variant,p.Met198Ter,ENST00000622645,NM_001276696.1;TP53,frameshift_variant,p.Met198Ter,ENST00000610292,NM_001126118.1;TP53,frameshift_variant,p.Met237Ter,ENST00000455263,NM_001126113.2;TP53,frameshift_variant,p.Met198Ter,ENST00000610538,NM_001276695.1;TP53,frameshift_variant,p.Met237Ter,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,frameshift_variant,p.Met198Ter,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,frameshift_variant,p.Met237Ter,ENST00000445888,;TP53,frameshift_variant,p.Met198Ter,ENST00000619485,;TP53,frameshift_variant,p.Met105Ter,ENST00000510385,NM_001126116.1;TP53,frameshift_variant,p.Met78Ter,ENST00000618944,NM_001276698.1;TP53,frameshift_variant,p.Met105Ter,ENST00000504290,NM_001126117.1;TP53,frameshift_variant,p.Met78Ter,ENST00000610623,NM_001276699.1;TP53,frameshift_variant,p.Met105Ter,ENST00000504937,NM_001126115.1;TP53,frameshift_variant,p.Met78Ter,ENST00000619186,NM_001276697.1;TP53,frameshift_variant,p.Met237Ter,ENST00000359597,;TP53,frameshift_variant,p.Met226Ter,ENST00000615910,;TP53,frameshift_variant,p.Met237Ter,ENST00000413465,;TP53,frameshift_variant,p.Met105Ter,ENST00000509690,;TP53,frameshift_variant,p.Met144Ter,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,frameshift_variant,p.Met198Ter,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	-	ENST00000269305	Transcript	frameshift_variant	899-903/2579	709-713/1182	237-238/393	MC/X	ATGTGt/t	TP53_g.13346_13350del,COSM4437812,COSM4437813,COSM4437814,COSM4437815,COSM4437816,COSM45503	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5			7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386											0,1,1,1,1,1,1						HIGH	1	deletion	1		0,1,1,1,1,1,1	1										PASS		.	.												-	7	5	59	7674250	7674250	CACAT	-	1	0	1	0	1	0	0	0	0	16859	478	17	0		0	TP53	17	7674250	Frame_Shift_Del	DEL	CACAT	C3N-00574_TP		7674250	75583191	43	19339											
MYH1	0	.	GRCh38	chr17	10514014	10514015	+	Frame_Shift_Ins	INS	-	-	T																															aacaatcagactcacctgcaINSttttgccagaagtaacttct																								novel		C3N-00574_TP	C3N-00574_NB	-	-																c.643dupA	p.Met215AsnfsTer28	p.M215Nfs*28	ENST00000226207	7/40	333	307	26	278	278	0	sindel-varindel	MYH1,frameshift_variant,p.Met215AsnfsTer28,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000226207	Transcript	frameshift_variant	738-739/6024	643-644/5820	215/1939	M/NX	atg/aAtg		1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3			7/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF454,SMART_domains:SM00242,Superfamily_domains:SSF52540																	HIGH		insertion	5			1										PASS		.	.												T	7	5	59	10514014	10514014	-	T	1	0	1	1	0	0	0	0	0	10029	231	8	0		0	MYH1	17	10514014	Frame_Shift_Ins	INS	-	C3N-00574_TP	2839764	10514014	72743427	44	19340											
KRTAP29-1	0	.	GRCh38	chr17	41302325	41302325	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttggcatggactagctgtaCagatggttggtaggcaagaa	11	10	15	5	0	0	2	0	0	0	2	0	3	0	3	0	5	2	7	0	5	5	5	rs752452904		C3N-00574_TP	C3N-00574_NB	C	C																c.527G>C	p.Cys176Ser	p.C176S	ENST00000391353	1/1	67	60	7	103	103	0	varscan-mutect	KRTAP29-1,missense_variant,p.Cys176Ser,ENST00000391353,NM_001257309.1;	G	ENST00000391353	Transcript	missense_variant	527/1026	527/1026	176/341	C/S	tGt/tCt	rs752452904	1		-1	KRTAP29-1	HGNC	HGNC:34211	protein_coding	YES	CCDS62183.1	ENSP00000375148	A8MX34		UPI000015FD5F	NM_001257309.1	tolerated(0.08)		1/1		hmmpanther:PTHR23262:SF55,hmmpanther:PTHR23262,Pfam_domain:PF13885																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	59	41302325	41302325	C	G	1	0	0	0	0	1	0	0	0	8437	478	17	4		4	KRTAP29-1	17	41302325	Missense_Mutation	SNP	C	C3N-00574_TP	30788311	41302325	41955116	45	19341											
TTC25	0	.	GRCh38	chr17	41965443	41965443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttggagaaataggagaaaCgaaaaaaacaggaaatgaga	23	5	11	2	1	0	3	0	1	0	3	0	8	0	4	0	3	2	0	0	3	7	2			C3N-00574_TP	C3N-00574_NB	C	C																c.1979C>A	p.Thr660Lys	p.T660K	ENST00000377540	12/12	147	137	10	132	131	1	varscan-mutect	TTC25,missense_variant,p.Thr660Lys,ENST00000377540,NM_031421.3;CNP,upstream_gene_variant,,ENST00000393892,NM_033133.4;CNP,upstream_gene_variant,,ENST00000393888,;CNP,upstream_gene_variant,,ENST00000472031,;CNP,upstream_gene_variant,,ENST00000585452,;CNP,upstream_gene_variant,,ENST00000441615,;CNP,upstream_gene_variant,,ENST00000587679,;CNP,upstream_gene_variant,,ENST00000589772,;CNP,upstream_gene_variant,,ENST00000592446,;CNP,upstream_gene_variant,,ENST00000591945,;TTC25,3_prime_UTR_variant,,ENST00000591658,;CNP,upstream_gene_variant,,ENST00000592861,;	A	ENST00000377540	Transcript	missense_variant	2047/2255	1979/2019	660/672	T/K	aCg/aAg	COSM5331840	1		1	TTC25	HGNC	HGNC:25280	protein_coding	YES	CCDS74063.1	ENSP00000478589	Q96NG3		UPI0000037C57	NM_031421.3	tolerated_low_confidence(0.08)		12/12													1						MODERATE	1	SNV	1		1	1										PASS		rs994514258	.												A	3	1	59	41965443	41965443	C	A	1	0	0	0	0	1	0	0	0	17201	536	19	1		1	TTC25	17	41965443	Missense_Mutation	SNP	C	C3N-00574_TP	663118	41965443	41291998	46	19342											
FMNL1	0	.	GRCh38	chr17	45246229	45246229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccgccaaaggcccggcGgccacagatggacctcatct	9	5	11	16	3	3	1	2	0	1	1	3	2	3	2	5	4	0	0	5	4	1	0	rs780634604		C3N-00574_TP	C3N-00574_NB	G	G																c.3110G>A	p.Arg1037Gln	p.R1037Q	ENST00000331495	25/27	103	91	12	63	63	0	strelka-varscan-mutect	FMNL1,missense_variant,p.Arg1037Gln,ENST00000331495,NM_005892.3;FMNL1,missense_variant,p.Arg615Gln,ENST00000587489,;FMNL1,missense_variant,p.Arg367Gln,ENST00000586643,;FMNL1,missense_variant,p.Arg70Gln,ENST00000586092,;FMNL1,3_prime_UTR_variant,,ENST00000328118,;FMNL1,3_prime_UTR_variant,,ENST00000589911,;CTD-2020K17.4,intron_variant,,ENST00000420431,;CTD-2020K17.3,upstream_gene_variant,,ENST00000587534,;MAP3K14-AS1,upstream_gene_variant,,ENST00000590100,;MAP3K14-AS1,upstream_gene_variant,,ENST00000592422,;CTD-2020K17.4,downstream_gene_variant,,ENST00000591361,;MAP3K14-AS1,upstream_gene_variant,,ENST00000588504,;MAP3K14-AS1,upstream_gene_variant,,ENST00000585346,;MAP3K14-AS1,upstream_gene_variant,,ENST00000588698,;MAP3K14-AS1,upstream_gene_variant,,ENST00000591263,;CTD-2020K17.4,downstream_gene_variant,,ENST00000589518,;FMNL1,non_coding_transcript_exon_variant,,ENST00000587856,;	A	ENST00000331495	Transcript	missense_variant	3446/4101	3110/3303	1037/1100	R/Q	cGg/cAg	rs780634604	1		1	FMNL1	HGNC	HGNC:1212	protein_coding	YES	CCDS11497.1	ENSP00000329219	O95466		UPI0000246EE9	NM_005892.3	tolerated(0.22)		25/27		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188,Low_complexity_(Seg):seg,SMART_domains:SM00498																	MODERATE	1	SNV	1			1										PASS		rs780634604	.												A	3	1	59	45246229	45246229	G	A	1	0	0	0	0	1	0	0	0	5807	1116	39	1		1	FMNL1	17	45246229	Missense_Mutation	SNP	G	C3N-00574_TP	3280786	45246229	38011212	47	19343											
DENND1C	0	.	GRCh38	chr19	6477240	6477240	+	Frame_Shift_Del	DEL	G	G	-																															gcttgctattcccccgggtaGggggggggataccctgcccg																								rs553532837		C3N-00574_TP	C3N-00574_NB	G	G																c.491delC	p.Pro164LeufsTer29	p.P164Lfs*29	ENST00000381480	8/23	50	43	7	35	35	0	sindel-varindel	DENND1C,frameshift_variant,p.Pro164LeufsTer29,ENST00000381480,NM_024898.3;DENND1C,frameshift_variant,p.Pro120LeufsTer29,ENST00000543576,NM_001290331.1;DENND1C,frameshift_variant,p.Pro120LeufsTer?,ENST00000590173,;DENND1C,frameshift_variant,p.Pro120LeufsTer?,ENST00000590473,;DENND1C,downstream_gene_variant,,ENST00000588421,;DENND1C,non_coding_transcript_exon_variant,,ENST00000591030,;DENND1C,frameshift_variant,p.Pro120LeufsTer29,ENST00000590867,;DENND1C,3_prime_UTR_variant,,ENST00000586046,;DENND1C,non_coding_transcript_exon_variant,,ENST00000592543,;DENND1C,non_coding_transcript_exon_variant,,ENST00000589491,;DENND1C,non_coding_transcript_exon_variant,,ENST00000588988,;DENND1C,upstream_gene_variant,,ENST00000590444,;DENND1C,upstream_gene_variant,,ENST00000590818,;	-	ENST00000381480	Transcript	frameshift_variant	604/2816	491/2406	164/801	P/X	cCt/ct	rs553532837,COSM4437578,COSM4437579	1		-1	DENND1C	HGNC	HGNC:26225	protein_coding	YES	CCDS45938.1	ENSP00000370889	Q8IV53		UPI000007469C	NM_024898.3			8/23		Pfam_domain:PF02141,PROSITE_profiles:PS50211,hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF25,SMART_domains:SM00799											0,1,1						HIGH	1	deletion	1		0,1,1	1										PASS		.	.												-	7	5	59	6477240	6477240	G	-	1	0	1	0	1	0	0	0	0	4232	1000	35	0		0	DENND1C	19	6477240	Frame_Shift_Del	DEL	G	C3N-00574_TP		6477240	52140376	48	19344											
BRD4	0	.	GRCh38	chr19	15257159	15257159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggcatcttggcaaagcgCatttcgaacacatcctggtg	9	10	10	12	3	1	0	0	0	1	0	4	1	3	0	2	3	2	3	2	3	2	2	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.1356G>A	p.Met452Ile	p.M452I	ENST00000263377	8/20	78	66	12	72	72	0	strelka-varscan-mutect	BRD4,missense_variant,p.Met452Ile,ENST00000263377,NM_058243.2;BRD4,missense_variant,p.Met452Ile,ENST00000371835,NM_014299.2;BRD4,missense_variant,p.Met452Ile,ENST00000360016,;BRD4,missense_variant,p.Met452Ile,ENST00000594841,;BRD4,non_coding_transcript_exon_variant,,ENST00000602230,;BRD4,non_coding_transcript_exon_variant,,ENST00000594842,;BRD4,upstream_gene_variant,,ENST00000595926,;	T	ENST00000263377	Transcript	missense_variant	1578/7169	1356/4089	452/1362	M/I	atG/atA		1		-1	BRD4	HGNC	HGNC:13575	protein_coding	YES	CCDS12328.1	ENSP00000263377	O60885		UPI0000126ACE	NM_058243.2	deleterious(0.02)		8/20		Gene3D:1.20.920.10,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF143,SMART_domains:SM00297,Superfamily_domains:SSF47370																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	59	15257159	15257159	C	T	1	0	0	0	0	1	0	0	0	1674	710	25	3		3	BRD4	19	15257159	Missense_Mutation	SNP	C	C3N-00574_TP	8779919	15257159	43360457	49	19345											
ZNF93	0	.	GRCh38	chr19	19934086	19934086	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagaatgtggcaaagcCttcatttggtcctcagtcct	9	13	10	9	0	2	2	2	1	0	1	4	2	4	2	3	2	1	1	3	2	3	2	rs554493455		C3N-00574_TP	C3N-00574_NB	C	C																c.1131C>T	p.=	p.A377A	ENST00000343769	4/4	52	42	10	93	93	0	strelka-varscan-mutect	ZNF93,synonymous_variant,p.=,ENST00000343769,NM_031218.3;ZNF93,downstream_gene_variant,,ENST00000592160,;ZNF93,downstream_gene_variant,,ENST00000588146,;AC007204.2,intron_variant,,ENST00000592245,;ZNF93,downstream_gene_variant,,ENST00000586021,;	T	ENST00000343769	Transcript	synonymous_variant	1159/2648	1131/1863	377/620	A	gcC/gcT	rs554493455,COSM3101987	1		1	ZNF93	HGNC	HGNC:13169	protein_coding	YES	CCDS32973.1	ENSP00000342002	P35789		UPI00002263B9	NM_031218.3			4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF374,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1						LOW	1	SNV	1		0,1	1										PASS		rs554493455	.												T	2	4	59	19934086	19934086	C	T	1	0	0	0	0	0	0	0	1	18795	668	24	3		3	ZNF93	19	19934086	Silent	SNP	C	C3N-00574_TP	4676927	19934086	38683530	50	19346											
ZNF181	0	.	GRCh38	chr19	34741436	34741436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaactctatgagtgtcGtatatgtggaaaggccttca	14	11	10	6	1	2	2	1	1	1	1	3	3	2	3	1	2	1	1	1	2	6	4	rs748135943		C3N-00574_TP	C3N-00574_NB	G	G																c.1055G>A	p.Arg352His	p.R352H	ENST00000492450	4/4	108	101	7	121	121	0	varscan-mutect	ZNF181,missense_variant,p.Arg352His,ENST00000492450,NM_001029997.3;ZNF181,missense_variant,p.Arg396His,ENST00000392232,;ZNF181,missense_variant,p.Arg351His,ENST00000459757,NM_001145665.1;ZNF181,downstream_gene_variant,,ENST00000595708,;ZNF181,downstream_gene_variant,,ENST00000599244,;ZNF181,downstream_gene_variant,,ENST00000593781,;ZNF181,non_coding_transcript_exon_variant,,ENST00000448715,;	A	ENST00000492450	Transcript	missense_variant	1144/5086	1055/1716	352/571	R/H	cGt/cAt	rs748135943,COSM3404098,COSM3404099,COSM3404100	1		1	ZNF181	HGNC	HGNC:12971	protein_coding	YES	CCDS32990.2	ENSP00000420727	Q2M3W8		UPI000020207A	NM_001029997.3	tolerated(0.14)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs748135943	.												A	3	1	59	34741436	34741436	G	A	1	0	0	0	0	1	0	0	0	18329	1145	40	1		1	ZNF181	19	34741436	Missense_Mutation	SNP	G	C3N-00574_TP	14807350	34741436	23876180	51	19347											
CAPNS1	0	.	GRCh38	chr19	36141152	36141152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCggtggtggaggcggcggtgg	1	3	28	9	9	0	0	0	0	0	0	0	1	0	1	0	14	0	0	0	14	0	0	rs17879825		C3N-00574_TP	C3N-00574_NB	C	C																c.141C>T	p.=	p.G47G	ENST00000246533	2/11	155	141	14	101	99	2	varscan-mutect	CAPNS1,synonymous_variant,p.=,ENST00000246533,NM_001749.3,NM_001003962.2;CAPNS1,synonymous_variant,p.=,ENST00000587718,;CAPNS1,synonymous_variant,p.=,ENST00000628018,;CAPNS1,synonymous_variant,p.=,ENST00000588815,NM_001302632.1;CAPNS1,synonymous_variant,p.=,ENST00000628306,;CAPNS1,synonymous_variant,p.=,ENST00000588780,;CAPNS1,synonymous_variant,p.=,ENST00000590874,;CAPNS1,synonymous_variant,p.=,ENST00000591041,;CAPNS1,synonymous_variant,p.=,ENST00000592483,;CAPNS1,intron_variant,,ENST00000629983,;CAPNS1,intron_variant,,ENST00000589146,;CAPNS1,upstream_gene_variant,,ENST00000592354,;CAPNS1,upstream_gene_variant,,ENST00000586851,;CAPNS1,upstream_gene_variant,,ENST00000586963,;CAPNS1,upstream_gene_variant,,ENST00000590211,;AD001527.7,downstream_gene_variant,,ENST00000604228,;CAPNS1,upstream_gene_variant,,ENST00000589162,;CAPNS1,upstream_gene_variant,,ENST00000590049,;	T	ENST00000246533	Transcript	synonymous_variant	739/1918	141/807	47/268	G	ggC/ggT	rs17879825,COSM5555598	1		1	CAPNS1	HGNC	HGNC:1481	protein_coding	YES	CCDS12489.1	ENSP00000246533	P04632		UPI0000000E07	NM_001749.3,NM_001003962.2			2/11		Low_complexity_(Seg):seg,hmmpanther:PTHR10183:SF38,hmmpanther:PTHR10183											0,1						LOW	1	SNV	1		0,1	1										PASS		rs747187044	.												T	2	4	59	36141152	36141152	C	T	1	0	0	0	0	0	0	0	1	2328	755	27	1		1	CAPNS1	19	36141152	Silent	SNP	C	C3N-00574_TP	1399716	36141152	22476464	52	19348											
CPT1C	0	.	GRCh38	chr19	49700724	49700724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggggggtcctggcagccGcgctgtttgcctcgtgtttg	1	12	16	12	4	0	0	0	0	0	0	3	0	2	0	4	4	2	4	4	4	0	2			C3N-00574_TP	C3N-00574_NB	G	G																c.322G>A	p.Ala108Thr	p.A108T	ENST00000392518	5/20	237	223	14	151	150	1	strelka-varscan-mutect	CPT1C,missense_variant,p.Ala108Thr,ENST00000392518,NM_001199752.2;CPT1C,missense_variant,p.Ala108Thr,ENST00000405931,NM_001136052.2;CPT1C,missense_variant,p.Ala108Thr,ENST00000323446,NM_152359.2;CPT1C,missense_variant,p.Ala108Thr,ENST00000598293,NM_001199753.1;CPT1C,missense_variant,p.Ala108Thr,ENST00000598396,;CPT1C,missense_variant,p.Ala108Thr,ENST00000594587,;CPT1C,intron_variant,,ENST00000595969,;CPT1C,downstream_gene_variant,,ENST00000602019,;CPT1C,downstream_gene_variant,,ENST00000598714,;CPT1C,3_prime_UTR_variant,,ENST00000598259,;CPT1C,non_coding_transcript_exon_variant,,ENST00000599023,;CPT1C,intron_variant,,ENST00000295404,;CPT1C,intron_variant,,ENST00000595568,;CPT1C,upstream_gene_variant,,ENST00000596701,;CPT1C,downstream_gene_variant,,ENST00000600944,;CPT1C,downstream_gene_variant,,ENST00000596922,;CPT1C,upstream_gene_variant,,ENST00000594431,;CPT1C,downstream_gene_variant,,ENST00000594038,;	A	ENST00000392518	Transcript	missense_variant	694/2910	322/2412	108/803	A/T	Gcg/Acg	COSM3389220	1		1	CPT1C	HGNC	HGNC:18540	protein_coding	YES	CCDS12779.1	ENSP00000376303	Q8TCG5	A0A024QZE3	UPI0000071C78	NM_001199752.2	tolerated(0.36)		5/20		Transmembrane_helices:TMhelix,hmmpanther:PTHR22589:SF55,hmmpanther:PTHR22589											1						MODERATE	1	SNV	2		1	1										PASS		rs1243005888	.												A	3	1	59	49700724	49700724	G	A	1	0	0	0	0	1	0	0	0	3630	1087	38	1		1	CPT1C	19	49700724	Missense_Mutation	SNP	G	C3N-00574_TP	13559572	49700724	8916892	53	19349											
ACPT	0	.	GRCh38	chr19	50791769	50791769	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggcccgctggaggccgatCccggtgcacacggtgcccgt	5	5	16	15	5	0	0	0	0	0	0	1	3	1	1	4	5	2	2	4	5	0	0	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.417C>T	p.=	p.I139I	ENST00000270593	4/11	136	126	10	71	71	0	strelka-varscan-mutect	ACPT,synonymous_variant,p.=,ENST00000270593,NM_033068.2;CTD-2568A17.1,intron_variant,,ENST00000636757,;CTD-2568A17.8,downstream_gene_variant,,ENST00000594114,;	T	ENST00000270593	Transcript	synonymous_variant	417/1347	417/1281	139/426	I	atC/atT		1		1	ACPT	HGNC	HGNC:14376	protein_coding	YES	CCDS12802.1	ENSP00000270593	Q9BZG2		UPI0000048D54	NM_033068.2			4/11		hmmpanther:PTHR11567,hmmpanther:PTHR11567:SF110,Gene3D:3.40.50.1240,Pfam_domain:PF00328,Superfamily_domains:SSF53254																	LOW	1	SNV	2			1										PASS		rs1449685112	.												T	2	4	59	50791769	50791769	C	T	1	0	0	0	0	0	0	0	1	210	845	30	3		3	ACPT	19	50791769	Silent	SNP	C	C3N-00574_TP	1091045	50791769	7825847	54	19350											
KIR2DL3	0	.	GRCh38	chr19	54741992	54741992	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcctaggagtccacagaaAaccttccctcctggcccacc	9	8	6	18	0	0	1	0	0	0	1	4	2	4	2	7	2	1	0	7	2	3	3	novel		C3N-00574_TP	C3N-00574_NB	A	A																c.83A>C	p.Lys28Thr	p.K28T	ENST00000342376	3/8	260	237	23	155	154	1	varscan-mutect	KIR2DL3,missense_variant,p.Lys28Thr,ENST00000342376,NM_015868.2;CTB-61M7.1,intron_variant,,ENST00000400864,;	C	ENST00000342376	Transcript	missense_variant	114/1590	83/1026	28/341	K/T	aAa/aCa		1		1	KIR2DL3	HGNC	HGNC:6331	protein_coding	YES	CCDS33107.1	ENSP00000342215	P43628	E3NZD8	UPI000012DB1C	NM_015868.2	deleterious(0)		3/8		hmmpanther:PTHR11738:SF119,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	59	54741992	54741992	A	C	1	0	0	0	0	1	0	0	0	8182	14	1	5		5	KIR2DL3	19	54741992	Missense_Mutation	SNP	A	C3N-00574_TP	3950223	54741992	3875624	55	19351											
NLRP9	0	.	GRCh38	chr19	55733246	55733246	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagctccagtaagctggtCtctgcgataccgttcatttc	8	12	10	11	2	2	0	1	0	1	0	5	2	3	1	2	2	4	4	2	2	2	4	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.585G>C	p.Glu195Asp	p.E195D	ENST00000332836	2/9	288	263	25	165	165	0	strelka-varscan-mutect	NLRP9,missense_variant,p.Glu195Asp,ENST00000332836,NM_176820.3;NLRP9,missense_variant,p.Glu195Asp,ENST00000590200,;RN7SKP109,upstream_gene_variant,,ENST00000410592,;	G	ENST00000332836	Transcript	missense_variant	613/3484	585/2976	195/991	E/D	gaG/gaC		1		-1	NLRP9	HGNC	HGNC:22941	protein_coding	YES	CCDS12934.1	ENSP00000331857	Q7RTR0		UPI00001B6B39	NM_176820.3	deleterious(0.05)		2/9		PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Gene3D:3.40.50.300,Pfam_domain:PF05729,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	59	55733246	55733246	C	G	1	0	0	0	0	1	0	0	0	10522	912	32	4		4	NLRP9	19	55733246	Missense_Mutation	SNP	C	C3N-00574_TP	991254	55733246	2884370	56	19352											
SNTA1	0	.	GRCh38	chr20	33438977	33438977	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctggtcagctgccaaTcccttgaagatcttggaaat	9	13	9	10	0	4	2	1	1	3	1	5	3	5	3	2	2	2	1	2	2	3	2	novel		C3N-00574_TP	C3N-00574_NB	T	T																c.360A>T	p.=	p.G120G	ENST00000217381	2/8	910	812	98	431	430	1	strelka-varscan-mutect	SNTA1,synonymous_variant,p.=,ENST00000217381,NM_003098.2;	A	ENST00000217381	Transcript	synonymous_variant	632/2342	360/1518	120/505	G	ggA/ggT		1		-1	SNTA1	HGNC	HGNC:11167	protein_coding	YES	CCDS13220.1	ENSP00000217381	Q13424		UPI0000135B08	NM_003098.2			2/8		PROSITE_profiles:PS50106,PROSITE_profiles:PS50003,hmmpanther:PTHR10554:SF6,hmmpanther:PTHR10554,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,SMART_domains:SM00233,Superfamily_domains:SSF50156																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	59	33438977	33438977	T	A	1	0	0	0	0	0	0	0	1	15191	1422	50	4		4	SNTA1	20	33438977	Silent	SNP	T	C3N-00574_TP		33438977	31005190	57	19353											
PLCG1	0	.	GRCh38	chr20	41163396	41163396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagctgtgggctgttgatCgcctccaggtgcaggagttc	6	10	16	9	1	0	1	0	1	0	0	3	3	1	3	2	4	2	5	2	4	0	2			C3N-00574_TP	C3N-00574_NB	C	C																c.808C>T	p.Arg270Cys	p.R270C	ENST00000244007	10/33	296	184	112	180	178	2	strelka-varscan-mutect	PLCG1,missense_variant,p.Arg270Cys,ENST00000373271,NM_182811.1;PLCG1,missense_variant,p.Arg270Cys,ENST00000244007,NM_002660.2;PLCG1,downstream_gene_variant,,ENST00000483646,;PLCG1,upstream_gene_variant,,ENST00000617873,;PLCG1,non_coding_transcript_exon_variant,,ENST00000492148,;PLCG1,non_coding_transcript_exon_variant,,ENST00000470528,;PLCG1,upstream_gene_variant,,ENST00000483175,;PLCG1,upstream_gene_variant,,ENST00000477870,;PLCG1,upstream_gene_variant,,ENST00000465571,;PLCG1,downstream_gene_variant,,ENST00000490253,;PLCG1,upstream_gene_variant,,ENST00000473632,;	T	ENST00000244007	Transcript	missense_variant	1005/5285	808/3876	270/1291	R/C	Cgc/Tgc	COSM3911298	1		1	PLCG1	HGNC	HGNC:9065	protein_coding	YES	CCDS13313.1	ENSP00000244007	P19174		UPI00001B94DD	NM_002660.2	deleterious(0.05)		10/33		hmmpanther:PTHR10336:SF52,hmmpanther:PTHR10336,PIRSF_domain:PIRSF000952,Superfamily_domains:SSF47473											1						MODERATE	1	SNV	5		1	1										PASS		rs1422530185	.												T	3	4	59	41163396	41163396	C	T	1	0	0	0	0	1	0	0	0	12129	884	31	1		1	PLCG1	20	41163396	Missense_Mutation	SNP	C	C3N-00574_TP	7724419	41163396	23280771	58	19354											
HUWE1	0	.	GRCh38	chrX	53575698	53575698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgacgcgtaagtgacCggtactgctggtatacatca	9	11	11	10	3	2	2	1	2	1	0	2	2	2	2	1	2	4	5	1	2	4	4	rs199846544		C3N-00574_TP	C3N-00574_NB	C	C																c.5975G>A	p.Arg1992Gln	p.R1992Q	ENST00000342160	44/83	141	110	31	96	95	1	strelka-varscan-mutect	HUWE1,missense_variant,p.Arg1992Gln,ENST00000342160,;HUWE1,missense_variant,p.Arg1992Gln,ENST00000262854,NM_031407.6;HUWE1,missense_variant,p.Arg1983Gln,ENST00000612484,;	T	ENST00000342160	Transcript	missense_variant	6433/14796	5975/13125	1992/4374	R/Q	cGg/cAg	rs199846544,COSM2968491,COSM2968492	1		-1	HUWE1	HGNC	HGNC:30892	protein_coding	YES	CCDS35301.1	ENSP00000340648	Q7Z6Z7	A0A024R9W5	UPI00004A0DAC		deleterious_low_confidence(0.01)		44/83													0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs199846544	.												T	3	4	59	53575698	53575698	C	T	1	0	0	0	0	1	0	0	0	7357	652	23	1		1	HUWE1	23	53575698	Missense_Mutation	SNP	C	C3N-00574_TP		53575698	102465197	59	19355											
RRAGB	0	.	GRCh38	chrX	55722265	55722265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattatattgccagagacaCacgtcgccttggcgcaacaa	14	8	8	11	3	0	1	0	0	0	1	1	2	0	1	2	1	2	1	2	1	5	4	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.206C>T	p.Thr69Ile	p.T69I	ENST00000262850	3/11	49	43	6	37	37	0	strelka-mutect	RRAGB,missense_variant,p.Thr69Ile,ENST00000374941,NM_006064.4;RRAGB,missense_variant,p.Thr69Ile,ENST00000262850,NM_016656.3;RRAGB,missense_variant,p.Thr31Ile,ENST00000414239,;RRAGB,non_coding_transcript_exon_variant,,ENST00000498762,;	T	ENST00000262850	Transcript	missense_variant	649/1573	206/1125	69/374	T/I	aCa/aTa		1		1	RRAGB	HGNC	HGNC:19901	protein_coding	YES	CCDS14372.1	ENSP00000262850	Q5VZM2		UPI00001AE856	NM_016656.3	deleterious(0)		3/11		Gene3D:3.40.50.300,Pfam_domain:PF04670,hmmpanther:PTHR11259,hmmpanther:PTHR11259:SF4,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	59	55722265	55722265	C	T	1	0	0	0	0	1	0	0	0	13927	478	17	3		3	RRAGB	23	55722265	Missense_Mutation	SNP	C	C3N-00574_TP	2146567	55722265	100318630	60	19356											
EDA2R	0	.	GRCh38	chrX	66604490	66604490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgcaggcctccaatgcGtgtctttcggtagaacctgt	6	12	11	12	2	1	1	0	0	1	1	4	1	3	1	4	2	3	2	4	2	3	2	rs755280381		C3N-00574_TP	C3N-00574_NB	G	G																c.283C>T	p.Arg95Cys	p.R95C	ENST00000396050	3/7	62	52	10	32	32	0	strelka-varscan-mutect	EDA2R,missense_variant,p.Arg95Cys,ENST00000451436,NM_001199687.2;EDA2R,missense_variant,p.Arg95Cys,ENST00000396050,NM_001242310.1;EDA2R,missense_variant,p.Arg95Cys,ENST00000374719,NM_001324206.1,NM_021783.3;EDA2R,missense_variant,p.Arg95Cys,ENST00000253392,;	A	ENST00000396050	Transcript	missense_variant	293/3429	283/957	95/318	R/C	Cgc/Tgc	rs755280381	1		-1	EDA2R	HGNC	HGNC:17756	protein_coding	YES	CCDS56603.1	ENSP00000379365	Q9HAV5		UPI00001B037F	NM_001242310.1	tolerated(0.1)		3/7		hmmpanther:PTHR12120:SF8,hmmpanther:PTHR12120																	MODERATE	1	SNV	5			1										PASS		rs755280381	.												A	3	1	59	66604490	66604490	G	A	1	0	0	0	0	1	0	0	0	4732	1145	40	1		1	EDA2R	23	66604490	Missense_Mutation	SNP	G	C3N-00574_TP	10882225	66604490	89436405	61	19357											
TGIF2LX	0	.	GRCh38	chrX	89922685	89922685	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtttctgtcacatccccGtcttctccagaacttgtgtc	7	14	7	13	1	4	1	1	0	3	1	7	1	5	1	3	1	1	1	3	1	2	3	novel		C3N-00574_TP	C3N-00574_NB	G	G																c.600G>A	p.=	p.P200P	ENST00000561129	1/1	258	242	16	213	213	0	varscan-mutect	TGIF2LX,synonymous_variant,p.=,ENST00000561129,;TGIF2LX,synonymous_variant,p.=,ENST00000283891,NM_138960.3;	A	ENST00000561129	Transcript	synonymous_variant	730/928	600/726	200/241	P	ccG/ccA		1		1	TGIF2LX	HGNC	HGNC:18570	protein_coding	YES	CCDS14459.1	ENSP00000453704	Q8IUE1		UPI0000074793				1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11850:SF16,hmmpanther:PTHR11850																	LOW	1	SNV				1										PASS		.	.												A	2	1	59	89922685	89922685	G	A	1	0	0	0	0	0	0	0	1	16260	1132	40	1		1	TGIF2LX	23	89922685	Silent	SNP	G	C3N-00574_TP	23318195	89922685	66118210	62	19358											
CAPN6	0	.	GRCh38	chrX	111251648	111251648	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agacttccacaagtctctctCcaagacgaattttgcgaata	13	11	6	11	2	2	2	0	0	2	2	5	4	3	2	2	0	1	0	2	0	5	4	novel		C3N-00574_TP	C3N-00574_NB	C	C																c.794G>C	p.Gly265Ala	p.G265A	ENST00000324068	6/13	124	111	13	88	88	0	strelka-varscan-mutect	CAPN6,missense_variant,p.Gly265Ala,ENST00000324068,NM_014289.3;	G	ENST00000324068	Transcript	missense_variant	962/3568	794/1926	265/641	G/A	gGa/gCa		1		-1	CAPN6	HGNC	HGNC:1483	protein_coding	YES	CCDS14555.1	ENSP00000317214	Q9Y6Q1		UPI0000126EA1	NM_014289.3	deleterious(0.03)		6/13		PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF281,hmmpanther:PTHR10183,Pfam_domain:PF00648,Gene3D:3.90.70.10,SMART_domains:SM00230,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	59	111251648	111251648	C	G	1	0	0	0	0	1	0	0	0	2324	855	30	4		4	CAPN6	23	111251648	Missense_Mutation	SNP	C	C3N-00574_TP	21328963	111251648	44789247	63	19359											
MAGEA12	0	.	GRCh38	chrX	152736947	152736947	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtaccggcaggtcccCggcagtgatcctgcatgcta	7	8	13	13	2	0	1	0	1	0	0	2	2	2	2	4	4	3	5	4	4	2	2	rs782159959		C3N-00574_TP	C3N-00574_NB	C	C																c.786C>T	p.=	p.P262P	ENST00000393900	3/3	363	304	59	209	209	0	strelka-varscan-mutect	MAGEA12,synonymous_variant,p.=,ENST00000393900,NM_001166386.3;MAGEA12,synonymous_variant,p.=,ENST00000393869,NM_001166387.3;MAGEA12,synonymous_variant,p.=,ENST00000357916,NM_005367.6;CSAG1,upstream_gene_variant,,ENST00000370291,;CSAG1,upstream_gene_variant,,ENST00000370287,NM_153478.2;CSAG1,upstream_gene_variant,,ENST00000452779,NM_001102576.2;CSAG4,intron_variant,,ENST00000361201,;CSAG1,upstream_gene_variant,,ENST00000361211,;CSAG4,upstream_gene_variant,,ENST00000583763,;	T	ENST00000393900	Transcript	synonymous_variant	1140/1853	786/945	262/314	P	ccC/ccT	rs782159959,COSM175949	1		1	MAGEA12	HGNC	HGNC:6799	protein_coding	YES	CCDS76048.1	ENSP00000377478	P43365	Q6FHH8	UPI0000000C51	NM_001166386.3			3/3		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF74,Pfam_domain:PF01454,SMART_domains:SM01373											0,1						LOW	1	SNV	1		0,1	1										PASS		rs782159959	.												T	2	4	59	152736947	152736947	C	T	1	0	0	0	0	0	0	0	1	9082	639	23	1		1	MAGEA12	23	152736947	Silent	SNP	C	C3N-00574_TP	41485299	152736947	3303948	64	19360											
SGIP1	0	.	GRCh38	chr1	66635959	66635959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagcagcccagcccacacGaaccaccctacaatagcaaa	15	3	5	18	1	0	0	0	0	0	0	1	1	1	0	5	0	6	2	5	0	5	2	rs372902905		C3N-00578_TP	C3N-00578_NB	G	G																c.115G>A	p.Glu39Lys	p.E39K	ENST00000371037	4/25	318	216	102	276	276	0	strelka-varscan-mutect	SGIP1,missense_variant,p.Glu39Lys,ENST00000371037,NM_032291.2;SGIP1,missense_variant,p.Glu39Lys,ENST00000424320,;SGIP1,intron_variant,,ENST00000371039,NM_001308203.1;SGIP1,intron_variant,,ENST00000237247,;SGIP1,non_coding_transcript_exon_variant,,ENST00000483060,;SGIP1,intron_variant,,ENST00000468286,;	A	ENST00000371037	Transcript	missense_variant	192/7768	115/2487	39/828	E/K	Gaa/Aaa	rs372902905,COSM911719	1		1	SGIP1	HGNC	HGNC:25412	protein_coding	YES	CCDS30744.1	ENSP00000360076	Q9BQI5		UPI000045891B	NM_032291.2	tolerated_low_confidence(0.38)		4/25													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs372902905	.												A	3	1	60	66635959	66635959	G	A	1	0	0	0	0	1	0	0	0	14466	1059	37	1		1	SGIP1	1	66635959	Missense_Mutation	SNP	G	C3N-00578_TP		66635959	182320463	1	19361											
TDRKH	0	.	GRCh38	chr1	151776575	151776575	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctaggtactcatcagcaTgaaaactgaagtcaggactg	13	10	9	9	0	4	2	3	2	1	0	4	3	4	3	0	2	3	2	0	2	5	3	novel		C3N-00578_TP	C3N-00578_NB	T	T																c.908A>T	p.His303Leu	p.H303L	ENST00000368822	7/14	144	100	44	85	85	0	strelka-varscan-mutect	TDRKH,missense_variant,p.His303Leu,ENST00000368822,;TDRKH,missense_variant,p.His303Leu,ENST00000368824,NM_001083965.1;TDRKH,missense_variant,p.His303Leu,ENST00000458431,NM_001083963.1;TDRKH,missense_variant,p.His299Leu,ENST00000368823,;TDRKH,missense_variant,p.His258Leu,ENST00000368825,NM_001083964.1;TDRKH,missense_variant,p.His303Leu,ENST00000368827,NM_006862.3;TDRKH,missense_variant,p.His303Leu,ENST00000440583,;TDRKH,downstream_gene_variant,,ENST00000526378,;TDRKH,downstream_gene_variant,,ENST00000484421,;TDRKH,3_prime_UTR_variant,,ENST00000525790,;TDRKH,3_prime_UTR_variant,,ENST00000526413,;TDRKH,downstream_gene_variant,,ENST00000486986,;TDRKH,downstream_gene_variant,,ENST00000494725,;TDRKH,downstream_gene_variant,,ENST00000530202,;	A	ENST00000368822	Transcript	missense_variant	1542/3093	908/1686	303/561	H/L	cAt/cTt		1		-1	TDRKH	HGNC	HGNC:11713	protein_coding	YES	CCDS41394.1	ENSP00000357812	Q9Y2W6		UPI0000204267		tolerated(0.09)		7/14		hmmpanther:PTHR22948																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	60	151776575	151776575	T	A	1	0	0	0	0	1	0	0	0	16147	1464	51	4		4	TDRKH	1	151776575	Missense_Mutation	SNP	T	C3N-00578_TP	85140616	151776575	97179847	2	19362											
SPEG	0	.	GRCh38	chr2	219448060	219448060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacgccgccctgcccagcCgcctccttccaaatccgcgc	5	5	7	24	5	0	0	0	0	0	0	3	0	3	0	9	0	2	0	9	0	1	1	novel		C3N-00578_TP	C3N-00578_NB	C	C																c.902C>T	p.Pro301Leu	p.P301L	ENST00000312358	4/41	273	219	54	277	277	0	strelka-varscan-mutect	SPEG,missense_variant,p.Pro301Leu,ENST00000312358,NM_005876.4;SPEG,missense_variant,p.Pro197Leu,ENST00000396698,;SPEG,missense_variant,p.Pro148Leu,ENST00000431523,;SPEG,missense_variant,p.Pro151Leu,ENST00000435853,;SPEG,missense_variant,p.Pro152Leu,ENST00000451076,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,non_coding_transcript_exon_variant,,ENST00000491248,;SPEG,non_coding_transcript_exon_variant,,ENST00000497065,;SPEG,upstream_gene_variant,,ENST00000462545,;SPEG,upstream_gene_variant,,ENST00000463218,;SPEG,3_prime_UTR_variant,,ENST00000452101,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,intron_variant,,ENST00000409595,;SPEG,downstream_gene_variant,,ENST00000420132,;SPEG,downstream_gene_variant,,ENST00000403148,;	T	ENST00000312358	Transcript	missense_variant	1034/10782	902/9804	301/3267	P/L	cCg/cTg		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	tolerated(0.51)		4/41		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs1156992455	.												T	3	4	60	219448060	219448060	C	T	1	0	0	0	0	1	0	0	0	15387	652	23	1		1	SPEG	2	219448060	Missense_Mutation	SNP	C	C3N-00578_TP		219448060	22745469	3	19363											
DHX30	0	.	GRCh38	chr3	47827407	47827407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttctcaacagtgtgattgGaagagccctcggcatctcac	9	11	9	12	1	3	2	2	1	3	1	6	3	3	3	1	2	2	1	1	2	2	2	novel		C3N-00578_TP	C3N-00578_NB	G	G																c.185G>A	p.Gly62Glu	p.G62E	ENST00000445061	5/22	251	208	43	176	176	0	strelka-varscan-mutect	DHX30,missense_variant,p.Gly62Glu,ENST00000445061,NM_138615.2;DHX30,missense_variant,p.Gly34Glu,ENST00000348968,;DHX30,missense_variant,p.Gly90Glu,ENST00000457607,;DHX30,missense_variant,p.Gly62Glu,ENST00000446256,;DHX30,missense_variant,p.Gly23Glu,ENST00000619982,NM_014966.3;DHX30,non_coding_transcript_exon_variant,,ENST00000470959,;DHX30,non_coding_transcript_exon_variant,,ENST00000471082,;DHX30,downstream_gene_variant,,ENST00000492893,;DHX30,3_prime_UTR_variant,,ENST00000395745,;DHX30,3_prime_UTR_variant,,ENST00000441384,;DHX30,downstream_gene_variant,,ENST00000415400,;	A	ENST00000445061	Transcript	missense_variant	592/4065	185/3585	62/1194	G/E	gGa/gAa		1		1	DHX30	HGNC	HGNC:16716	protein_coding	YES	CCDS2759.1	ENSP00000405620	Q7L2E3	A0A024R2T6	UPI000007112B	NM_138615.2	tolerated(0.99)		5/22																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	60	47827407	47827407	G	A	1	0	0	0	0	1	0	0	0	4308	1174	41	3		3	DHX30	3	47827407	Missense_Mutation	SNP	G	C3N-00578_TP		47827407	150468152	4	19364											
CELSR3	0	.	GRCh38	chr3	48656263	48656263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgccgcctgccgggcacTggcagcgaaagccgccgttg	6	4	16	15	6	0	0	0	0	0	0	0	1	0	0	5	3	3	3	5	3	1	1	novel		C3N-00578_TP	C3N-00578_NB	T	T																c.4502A>G	p.Gln1501Arg	p.Q1501R	ENST00000164024	3/35	327	257	70	297	297	0	strelka-varscan-mutect	CELSR3,missense_variant,p.Gln1501Arg,ENST00000164024,NM_001407.2;	C	ENST00000164024	Transcript	missense_variant	4783/11956	4502/9939	1501/3312	Q/R	cAg/cGg		1		-1	CELSR3	HGNC	HGNC:3230	protein_coding	YES	CCDS2775.1	ENSP00000164024	Q9NYQ7		UPI00001AE5A6	NM_001407.2	tolerated(0.21)		3/35		Gene3D:2gy5A03,PROSITE_profiles:PS50026,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	60	48656263	48656263	T	C	1	0	0	0	0	1	0	0	0	2930	1580	55	5		5	CELSR3	3	48656263	Missense_Mutation	SNP	T	C3N-00578_TP	828856	48656263	149639296	5	19365											
USP4	0	.	GRCh38	chr3	49325830	49325830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagtgcttgacaaacaGgccatgctccacaacctatg	11	10	8	12	0	0	1	0	1	0	0	1	1	1	1	3	1	5	3	3	1	3	3			C3N-00578_TP	C3N-00578_NB	G	G																c.376C>G	p.Leu126Val	p.L126V	ENST00000265560	4/22	206	155	51	128	128	0	strelka-varscan-mutect	USP4,missense_variant,p.Leu126Val,ENST00000351842,NM_199443.2;USP4,missense_variant,p.Leu126Val,ENST00000265560,NM_003363.3;USP4,missense_variant,p.Leu126Val,ENST00000416417,NM_001251877.1;USP4,missense_variant,p.Leu126Val,ENST00000415188,;USP4,non_coding_transcript_exon_variant,,ENST00000491791,;USP4,non_coding_transcript_exon_variant,,ENST00000464168,;USP4,intron_variant,,ENST00000486549,;	C	ENST00000265560	Transcript	missense_variant	423/3126	376/2892	126/963	L/V	Ctg/Gtg	COSM1309262	1		-1	USP4	HGNC	HGNC:12627	protein_coding	YES	CCDS2793.1	ENSP00000265560	Q13107	A0A024R2T0	UPI000013D63C	NM_003363.3	tolerated(0.08)		4/22		Gene3D:3jyuB01											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	60	49325830	49325830	G	C	1	0	0	0	0	1	0	0	0	17613	991	35	4		4	USP4	3	49325830	Missense_Mutation	SNP	G	C3N-00578_TP	669567	49325830	148969729	6	19366											
ECT2	0	.	GRCh38	chr3	172762720	172762720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttaccgcttggagatgaaAgatgcactcaccttgtagtt	11	13	9	8	1	1	3	1	1	0	2	1	4	1	3	2	1	2	4	2	1	3	6	novel		C3N-00578_TP	C3N-00578_NB	A	A																c.919A>G	p.Arg307Gly	p.R307G	ENST00000392692	10/25	147	109	38	93	93	0	strelka-mutect	ECT2,missense_variant,p.Arg276Gly,ENST00000540509,NM_001258316.1;ECT2,missense_variant,p.Arg275Gly,ENST00000417960,;ECT2,missense_variant,p.Arg307Gly,ENST00000392692,NM_001258315.1;ECT2,missense_variant,p.Arg276Gly,ENST00000232458,NM_018098.5;ECT2,missense_variant,p.Arg276Gly,ENST00000441497,;ECT2,downstream_gene_variant,,ENST00000428567,;ECT2,downstream_gene_variant,,ENST00000415665,;ECT2,upstream_gene_variant,,ENST00000444250,;	G	ENST00000392692	Transcript	missense_variant	1095/4158	919/2745	307/914	R/G	Aga/Gga		1		1	ECT2	HGNC	HGNC:3155	protein_coding	YES	CCDS58860.1	ENSP00000376457	Q9H8V3		UPI00003DFD0A	NM_001258315.1	tolerated(0.13)		10/25		Gene3D:3.40.50.10190,Pfam_domain:PF00533,PROSITE_profiles:PS50172,hmmpanther:PTHR16777,hmmpanther:PTHR16777:SF2,SMART_domains:SM00292,Superfamily_domains:SSF52113																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	60	172762720	172762720	A	G	1	0	0	0	0	1	0	0	0	4729	64	3	5		5	ECT2	3	172762720	Missense_Mutation	SNP	A	C3N-00578_TP	123436890	172762720	25532839	7	19367											
PCDHA8	0	.	GRCh38	chr5	140843570	140843570	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcggtggggagctggtcatActcgcaacaacagccgcaga	10	6	14	11	3	1	1	1	0	0	1	2	2	1	2	1	4	6	3	1	4	3	1	novel		C3N-00578_TP	C3N-00578_NB	A	A																c.2249A>G	p.Tyr750Cys	p.Y750C	ENST00000531613	1/4	306	275	31	251	251	0	strelka-varscan-mutect	PCDHA8,missense_variant,p.Tyr750Cys,ENST00000531613,NM_018911.2;PCDHA8,missense_variant,p.Tyr750Cys,ENST00000378123,NM_031856.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA9,upstream_gene_variant,,ENST00000378122,NM_014005.4;PCDHA9,upstream_gene_variant,,ENST00000532602,NM_031857.1;	G	ENST00000531613	Transcript	missense_variant	2249/5260	2249/2853	750/950	Y/C	tAc/tGc		1		1	PCDHA8	HGNC	HGNC:8674	protein_coding	YES	CCDS54919.1	ENSP00000434655	Q9Y5H6		UPI00001273D0	NM_018911.2	tolerated_low_confidence(0.07)		1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF125																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	60	140843570	140843570	A	G	1	0	0	0	0	1	0	0	0	11617	391	14	5		5	PCDHA8	5	140843570	Missense_Mutation	SNP	A	C3N-00578_TP		140843570	40694689	8	19368											
PCDHGA2	0	.	GRCh38	chr5	141340738	141340738	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccggctacctggtgacCaaggtggtggcggtggacag	7	6	18	10	2	0	1	0	1	0	0	0	3	0	2	3	7	2	1	3	7	2	1	rs777268988		C3N-00578_TP	C3N-00578_NB	C	C																c.1767C>A	p.=	p.T589T	ENST00000394576	1/4	488	407	81	430	429	1	strelka-varscan-mutect	PCDHGA2,synonymous_variant,p.=,ENST00000394576,NM_018915.3;PCDHGA2,synonymous_variant,p.=,ENST00000528330,NM_032009.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3;PCDHGA3,upstream_gene_variant,,ENST00000619750,NM_032011.1;PCDHGA3,upstream_gene_variant,,ENST00000612467,;	A	ENST00000394576	Transcript	synonymous_variant	1767/4605	1767/2799	589/932	T	acC/acA	rs777268988	1		1	PCDHGA2	HGNC	HGNC:8700	protein_coding	YES	CCDS47289.1	ENSP00000378077	Q9Y5H1		UPI0000072E67	NM_018915.3			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF134,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs777268988	.												A	2	1	60	141340738	141340738	C	A	1	0	0	0	0	0	0	0	1	11641	581	21	2		2	PCDHGA2	5	141340738	Silent	SNP	C	C3N-00578_TP	497168	141340738	40197521	9	19369											
SLC17A4	0	.	GRCh38	chr6	25779088	25779088	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggagaaatgtcttcttgcTttcagctgctgttaacatat	9	17	8	7	0	3	1	1	0	2	1	3	2	3	1	0	1	4	4	0	1	3	6	novel		C3N-00578_TP	C3N-00578_NB	T	T																c.1394T>C	p.Leu465Pro	p.L465P	ENST00000377905	12/12	210	171	39	207	207	0	strelka-mutect	SLC17A4,missense_variant,p.Leu411Pro,ENST00000439485,NM_001286121.1;SLC17A4,missense_variant,p.Leu465Pro,ENST00000377905,NM_005495.2;SLC17A4,3_prime_UTR_variant,,ENST00000397076,;SLC17A1,downstream_gene_variant,,ENST00000244527,NM_005074.3;SLC17A1,downstream_gene_variant,,ENST00000377886,;	C	ENST00000377905	Transcript	missense_variant	1513/3616	1394/1494	465/497	L/P	cTt/cCt		1		1	SLC17A4	HGNC	HGNC:10932	protein_coding	YES	CCDS4564.1	ENSP00000367137	Q9Y2C5	A0A024R013	UPI0000073585	NM_005495.2	deleterious(0)		12/12		Gene3D:1.20.1250.20,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF284,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	60	25779088	25779088	T	C	1	0	0	0	0	1	0	0	0	14684	1609	56	5		5	SLC17A4	6	25779088	Missense_Mutation	SNP	T	C3N-00578_TP		25779088	145026891	10	19370											
TRIB1	0	.	GRCh38	chr8	125436165	125436165	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggacgtttggagcctgggGgtgatgctctacacccttct	5	11	14	11	2	2	1	0	1	2	0	2	3	2	3	2	4	3	2	2	4	1	3	novel		C3N-00578_TP	C3N-00578_NB	G	G																c.813G>A	p.=	p.G271G	ENST00000311922	3/3	485	359	126	379	378	1	strelka-varscan-mutect	TRIB1,synonymous_variant,p.=,ENST00000311922,NM_025195.3;TRIB1,synonymous_variant,p.=,ENST00000519576,;TRIB1,synonymous_variant,p.=,ENST00000520847,NM_001282985.1;TRIB1,downstream_gene_variant,,ENST00000521778,;	A	ENST00000311922	Transcript	synonymous_variant	1395/3635	813/1119	271/372	G	ggG/ggA		1		1	TRIB1	HGNC	HGNC:16891	protein_coding	YES	CCDS6357.1	ENSP00000312150	Q96RU8		UPI00000717B2	NM_025195.3			3/3		PROSITE_profiles:PS50011,hmmpanther:PTHR22961,hmmpanther:PTHR22961:SF17,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	60	125436165	125436165	G	A	1	0	0	0	0	0	0	0	1	16971	1219	43	3		3	TRIB1	8	125436165	Silent	SNP	G	C3N-00578_TP		125436165	19702471	11	19371											
OTUD1	0	.	GRCh38	chr10	23439627	23439627	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgagtgccagcccgccgCggccgccgagcaccgggaag	6	2	17	16	7	0	1	0	1	0	0	0	3	0	2	6	3	3	1	6	3	1	0	novel		C3N-00578_TP	C3N-00578_NB	C	C																c.170C>A	p.Ala57Glu	p.A57E	ENST00000376495	1/1	75	69	6	72	72	0	strelka-mutect	OTUD1,missense_variant,p.Ala57Glu,ENST00000376495,NM_001145373.2;	A	ENST00000376495	Transcript	missense_variant	170/2933	170/1446	57/481	A/E	gCg/gAg		1		1	OTUD1	HGNC	HGNC:27346	protein_coding	YES	CCDS44366.1	ENSP00000365678	Q5VV17		UPI0000458A32	NM_001145373.2	tolerated(0.3)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR12419:SF15,hmmpanther:PTHR12419																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	60	23439627	23439627	C	A	1	0	0	0	0	1	0	0	0	11381	768	27	1		1	OTUD1	10	23439627	Missense_Mutation	SNP	C	C3N-00578_TP		23439627	110357795	12	19372											
C10orf120	0	.	GRCh38	chr10	122697986	122697986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgttaaacatttttttGgttcttttgacttgaaaact	10	20	7	4	0	1	2	0	2	1	0	1	2	1	2	0	2	2	3	0	2	5	9	novel		C3N-00578_TP	C3N-00578_NB	G	G																c.755C>A	p.Pro252Gln	p.P252Q	ENST00000329446	3/3	151	143	8	139	138	1	varscan-mutect	C10orf120,missense_variant,p.Pro252Gln,ENST00000329446,NM_001010912.2;C10orf120,intron_variant,,ENST00000432000,;	T	ENST00000329446	Transcript	missense_variant	787/1064	755/1008	252/335	P/Q	cCa/cAa		1		-1	C10orf120	HGNC	HGNC:25707	protein_coding	YES	CCDS31302.1	ENSP00000331012	Q5SQS8		UPI00001F89D1	NM_001010912.2	tolerated(0.07)		3/3		hmmpanther:PTHR23231,hmmpanther:PTHR23231:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	60	122697986	122697986	G	T	1	0	0	0	0	1	0	0	0	1760	1348	47	2		2	C10orf120	10	122697986	Missense_Mutation	SNP	G	C3N-00578_TP	99258359	122697986	11099436	13	19373											
OR5M3	0	.	GRCh38	chr11	56470040	56470040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgttgctgccagactcGtcagaaaaccataaatgtaa	16	10	7	8	1	1	2	1	0	0	2	2	2	1	2	2	0	3	3	2	0	6	4			C3N-00578_TP	C3N-00578_NB	G	G																c.458C>T	p.Thr153Met	p.T153M	ENST00000312240	1/1	294	265	29	205	205	0	strelka-varscan-mutect	OR5M3,missense_variant,p.Thr153Met,ENST00000312240,NM_001004742.2;	A	ENST00000312240	Transcript	missense_variant	458/924	458/924	153/307	T/M	aCg/aTg	COSM2149020	1		-1	OR5M3	HGNC	HGNC:14806	protein_coding	YES	CCDS31532.1	ENSP00000312208	Q8NGP4		UPI0000041BAA	NM_001004742.2	tolerated(0.25)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF17,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		rs1406730292	.												A	3	1	60	56470040	56470040	G	A	1	0	0	0	0	1	0	0	0	11244	1145	40	1		1	OR5M3	11	56470040	Missense_Mutation	SNP	G	C3N-00578_TP		56470040	78616582	14	19374											
FEN1	0	.	GRCh38	chr11	61796266	61796266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgaagtggagcgagccaaAtgaagaagagctgatcaagt	15	6	14	6	1	1	5	1	3	0	2	1	7	1	6	1	1	3	2	1	1	5	0	novel		C3N-00578_TP	C3N-00578_NB	A	A																c.905A>G	p.Asn302Ser	p.N302S	ENST00000305885	2/2	724	578	146	522	522	0	strelka-varscan-mutect	FEN1,missense_variant,p.Asn302Ser,ENST00000305885,NM_004111.5;FEN1,missense_variant,p.Asn110Ser,ENST00000535307,;FADS2,intron_variant,,ENST00000574708,;FADS1,downstream_gene_variant,,ENST00000350997,NM_013402.4;TMEM258,upstream_gene_variant,,ENST00000543510,;FEN1,downstream_gene_variant,,ENST00000535723,;TMEM258,upstream_gene_variant,,ENST00000537328,NM_014206.3;TMEM258,upstream_gene_variant,,ENST00000384869,;TMEM258,upstream_gene_variant,,ENST00000545210,;TMEM258,upstream_gene_variant,,ENST00000540434,;TMEM258,upstream_gene_variant,,ENST00000541893,;TMEM258,upstream_gene_variant,,ENST00000257262,;TMEM258,upstream_gene_variant,,ENST00000535297,;	G	ENST00000305885	Transcript	missense_variant	1318/2296	905/1143	302/380	N/S	aAt/aGt		1		1	FEN1	HGNC	HGNC:3650	protein_coding	YES	CCDS8010.1	ENSP00000305480	P39748	Q6FHX6	UPI0000050E0F	NM_004111.5	deleterious(0.01)		2/2		HAMAP:MF_00614,hmmpanther:PTHR11081,hmmpanther:PTHR11081:SF31,Superfamily_domains:SSF47807																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	60	61796266	61796266	A	G	1	0	0	0	0	1	0	0	0	5675	101	4	5		5	FEN1	11	61796266	Missense_Mutation	SNP	A	C3N-00578_TP	5326226	61796266	73290356	15	19375											
LRFN4	0	.	GRCh38	chr11	66857807	66857807	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcctgcccgctgccctgCgtctgccagaacctgtccga	4	7	11	19	4	1	1	0	0	1	1	2	2	2	1	7	0	5	1	7	0	1	0	novel		C3N-00578_TP	C3N-00578_NB	C	C																c.63C>A	p.Cys21Ter	p.C21*	ENST00000309602	1/2	330	248	82	158	158	0	strelka-varscan-mutect	LRFN4,stop_gained,p.Cys21Ter,ENST00000309602,NM_024036.4;LRFN4,stop_gained,p.Cys21Ter,ENST00000393952,;PC,intron_variant,,ENST00000393960,NM_001040716.1;PC,intron_variant,,ENST00000393958,NM_000920.3;PC,intron_variant,,ENST00000393955,NM_022172.2;PC,downstream_gene_variant,,ENST00000524491,;PC,downstream_gene_variant,,ENST00000628663,;PC,upstream_gene_variant,,ENST00000530259,;PC,downstream_gene_variant,,ENST00000530187,;LRFN4,downstream_gene_variant,,ENST00000531590,;	A	ENST00000309602	Transcript	stop_gained	306/2431	63/1908	21/635	C/*	tgC/tgA		1		1	LRFN4	HGNC	HGNC:28456	protein_coding	YES	CCDS8153.1	ENSP00000312535	Q6PJG9	A0A024R5I6	UPI0000001C10	NM_024036.4			1/2		hmmpanther:PTHR24373:SF151,hmmpanther:PTHR24373,Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	HIGH	1	SNV	1			1										PASS		rs1028163083	.												A	4	1	60	66857807	66857807	C	A	1	0	0	0	0	0	1	0	0	8834	776	27	1		1	LRFN4	11	66857807	Nonsense_Mutation	SNP	C	C3N-00578_TP	5061541	66857807	68228815	16	19376											
KMT2D	0	.	GRCh38	chr12	49052935	49052935	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctacacaccggggtatgCtgctcagcaacggagcggat	9	7	13	12	3	1	0	1	0	0	0	1	2	1	2	1	4	7	5	1	4	3	2	novel		C3N-00578_TP	C3N-00578_NB	C	C																c.1092G>A	p.=	p.Q364Q	ENST00000301067	8/54	204	181	23	149	149	0	strelka-varscan-mutect	KMT2D,synonymous_variant,p.=,ENST00000301067,NM_003482.3;KMT2D,downstream_gene_variant,,ENST00000547610,;	T	ENST00000301067	Transcript	synonymous_variant	1092/19419	1092/16614	364/5537	Q	caG/caA		1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3			8/54																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	60	49052935	49052935	C	T	1	0	0	0	0	0	0	0	1	8298	796	28	3		3	KMT2D	12	49052935	Silent	SNP	C	C3N-00578_TP		49052935	84222374	17	19377											
EML5	0	.	GRCh38	chr14	88696922	88696922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggtttaatggtctctgtatCccatatatgaattgagggat	10	16	10	5	0	1	2	0	2	1	0	3	3	2	3	1	3	0	2	1	3	5	6	novel		C3N-00578_TP	C3N-00578_NB	C	C																c.2269G>A	p.Asp757Asn	p.D757N	ENST00000554922	15/44	188	173	15	91	91	0	strelka-varscan-mutect	EML5,missense_variant,p.Asp757Asn,ENST00000554922,NM_183387.2;EML5,missense_variant,p.Asp757Asn,ENST00000380664,;EML5,3_prime_UTR_variant,,ENST00000553281,;	T	ENST00000554922	Transcript	missense_variant	2518/9570	2269/5934	757/1977	D/N	Gat/Aat		1		-1	EML5	HGNC	HGNC:18197	protein_coding	YES	CCDS45148.1	ENSP00000451998	Q05BV3		UPI00001C0438	NM_183387.2	tolerated(0.07)		15/44		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,SMART_domains:SM00320,Superfamily_domains:SSF50998																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	60	88696922	88696922	C	T	1	0	0	0	0	1	0	0	0	4943	855	30	3		3	EML5	14	88696922	Missense_Mutation	SNP	C	C3N-00578_TP		88696922	18346796	18	19378											
TRPM1	0	.	GRCh38	chr15	31068053	31068053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctttcaccatgagatggaGcagtgagtctggcttggtgt	8	13	13	7	0	3	2	1	2	2	1	3	4	3	3	1	3	1	2	1	3	0	2	rs779477918		C3N-00578_TP	C3N-00578_NB	G	G																c.370C>T	p.Leu124Phe	p.L124F	ENST00000542188	4/27	435	386	49	453	453	0	strelka-varscan-mutect	TRPM1,missense_variant,p.Leu124Phe,ENST00000542188,NM_001252020.1;TRPM1,missense_variant,p.Leu85Phe,ENST00000397795,NM_002420.5;TRPM1,missense_variant,p.Leu107Phe,ENST00000256552,NM_001252024.1;TRPM1,missense_variant,p.Leu14Phe,ENST00000558768,;TRPM1,missense_variant,p.Leu85Phe,ENST00000558445,;TRPM1,missense_variant,p.Leu85Phe,ENST00000559177,;TRPM1,downstream_gene_variant,,ENST00000559179,NM_001252030.1;MIR211,upstream_gene_variant,,ENST00000384969,;TRPM1,missense_variant,p.Leu14Phe,ENST00000560801,;TRPM1,missense_variant,p.Leu85Phe,ENST00000560658,;	A	ENST00000542188	Transcript	missense_variant	684/6004	370/4929	124/1642	L/F	Ctc/Ttc	rs779477918	1		-1	TRPM1	HGNC	HGNC:7146	protein_coding	YES	CCDS58347.1	ENSP00000437849	Q7Z4N2		UPI0001DBB3A9	NM_001252020.1	deleterious(0.01)		4/27		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13																	MODERATE	1	SNV	1			1										PASS		rs779477918	.												A	3	1	60	31068053	31068053	G	A	1	0	0	0	0	1	0	0	0	17091	971	34	3		3	TRPM1	15	31068053	Missense_Mutation	SNP	G	C3N-00578_TP		31068053	70923136	19	19379											
SLC12A6	0	.	GRCh38	chr15	34254383	34254383	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaagaagacttgatggcTccagcatagatggccaagat	15	7	11	8	0	0	5	0	1	0	4	1	5	1	5	2	2	1	3	2	2	5	2	rs754403127		C3N-00578_TP	C3N-00578_NB	T	T																c.1083A>T	p.=	p.G361G	ENST00000354181	9/26	441	317	124	442	442	0	strelka-varscan-mutect	SLC12A6,synonymous_variant,p.=,ENST00000290209,NM_005135.2;SLC12A6,synonymous_variant,p.=,ENST00000354181,;SLC12A6,synonymous_variant,p.=,ENST00000458406,NM_001042494.1;SLC12A6,synonymous_variant,p.=,ENST00000560611,NM_133647.1;SLC12A6,synonymous_variant,p.=,ENST00000397707,NM_001042497.1;SLC12A6,synonymous_variant,p.=,ENST00000397702,NM_001042495.1;SLC12A6,synonymous_variant,p.=,ENST00000558589,NM_001042496.1;SLC12A6,synonymous_variant,p.=,ENST00000560164,;SLC12A6,synonymous_variant,p.=,ENST00000558667,;SLC12A6,downstream_gene_variant,,ENST00000561120,;SLC12A6,downstream_gene_variant,,ENST00000560332,;RP11-1084A12.2,upstream_gene_variant,,ENST00000559867,;SLC12A6,synonymous_variant,p.=,ENST00000561080,;SLC12A6,synonymous_variant,p.=,ENST00000559664,;SLC12A6,synonymous_variant,p.=,ENST00000559523,;	A	ENST00000354181	Transcript	synonymous_variant	1576/4568	1083/3453	361/1150	G	ggA/ggT	rs754403127	1		-1	SLC12A6	HGNC	HGNC:10914	protein_coding	YES	CCDS58352.1	ENSP00000346112	Q9UHW9	A0A024R9I5	UPI0000135427				9/26		Pfam_domain:PF00324,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF66,TIGRFAM_domain:TIGR00930,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs754403127	.												A	2	1	60	34254383	34254383	T	A	1	0	0	0	0	0	0	0	1	14652	1538	54	4		4	SLC12A6	15	34254383	Silent	SNP	T	C3N-00578_TP	3186330	34254383	67736806	20	19380											
POU2F2	0	.	GRCh38	chr19	42099612	42099612	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaatagatttggtgtcggtAgcaggcctggaaagacaagg	12	8	16	5	1	0	2	0	0	0	2	1	4	0	4	1	6	1	2	1	6	5	3	novel		C3N-00578_TP	C3N-00578_NB	A	A																c.416T>G	p.Leu139Arg	p.L139R	ENST00000526816	7/14	299	263	36	268	268	0	strelka-varscan-mutect	POU2F2,missense_variant,p.Leu139Arg,ENST00000389341,NM_002698.4;POU2F2,missense_variant,p.Leu139Arg,ENST00000342301,;POU2F2,missense_variant,p.Leu100Arg,ENST00000560558,;POU2F2,missense_variant,p.Leu139Arg,ENST00000526816,NM_001207025.2;POU2F2,missense_variant,p.Leu139Arg,ENST00000529067,NM_001247994.1;POU2F2,missense_variant,p.Leu157Arg,ENST00000560804,;POU2F2,missense_variant,p.Leu161Arg,ENST00000560398,;POU2F2,missense_variant,p.Leu139Arg,ENST00000529952,NM_001207026.1;POU2F2,missense_variant,p.Leu198Arg,ENST00000526831,;POU2F2,missense_variant,p.Leu133Arg,ENST00000528894,;POU2F2,upstream_gene_variant,,ENST00000533548,;POU2F2,upstream_gene_variant,,ENST00000598842,;POU2F2,downstream_gene_variant,,ENST00000531773,;POU2F2,3_prime_UTR_variant,,ENST00000534559,;POU2F2,non_coding_transcript_exon_variant,,ENST00000530982,;	C	ENST00000526816	Transcript	missense_variant	432/3218	416/1440	139/479	L/R	cTa/cGa		1		-1	POU2F2	HGNC	HGNC:9213	protein_coding	YES	CCDS56095.1	ENSP00000431603	P09086		UPI0000186851	NM_001207025.2	deleterious(0)		7/14		Prints_domain:PR00029,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF46																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	60	42099612	42099612	A	C	1	0	0	0	0	1	0	0	0	12388	420	15	5		5	POU2F2	19	42099612	Missense_Mutation	SNP	A	C3N-00578_TP		42099612	16518004	21	19381											
GIPR	0	.	GRCh38	chr19	45669574	45669574	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctctcactgtgcgggctGctgctccagagggcggaggt	4	8	17	12	3	1	1	1	0	1	1	3	2	2	2	1	5	3	4	1	5	0	0	novel		C3N-00578_TP	C3N-00578_NB	G	G																c.54G>A	p.=	p.L18L	ENST00000590918	2/14	310	259	51	205	205	0	strelka-varscan-mutect	GIPR,synonymous_variant,p.=,ENST00000590918,NM_000164.2;GIPR,synonymous_variant,p.=,ENST00000263281,;GIPR,synonymous_variant,p.=,ENST00000304207,;GIPR,upstream_gene_variant,,ENST00000591322,;GIPR,synonymous_variant,p.=,ENST00000585889,;GIPR,upstream_gene_variant,,ENST00000588816,;	A	ENST00000590918	Transcript	synonymous_variant	153/3289	54/1401	18/466	L	ctG/ctA		1		1	GIPR	HGNC	HGNC:4271	protein_coding	YES	CCDS12671.1	ENSP00000467494	P48546		UPI00000503FD	NM_000164.2			2/14		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF315,Prints_domain:PR01129																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	60	45669574	45669574	G	A	1	0	0	0	0	0	0	0	1	6277	1306	46	3		3	GIPR	19	45669574	Silent	SNP	G	C3N-00578_TP	3569962	45669574	12948042	22	19382											
GZF1	0	.	GRCh38	chr20	23365284	23365286	+	In_Frame_Del	DEL	GAG	GAG	-																															aagcagggccggaggaggaaGaggaggaggaggaggaggac																								rs765048872		C3N-00578_TP	C3N-00578_NB	GAG	GAG																c.918_920delGGA	p.Glu306del	p.E306del	ENST00000338121	2/6	38	33	5	56	56	0	sindel-varindel	GZF1,inframe_deletion,p.Glu306del,ENST00000338121,NM_001317012.1;GZF1,inframe_deletion,p.Glu306del,ENST00000377051,NM_022482.3;GZF1,downstream_gene_variant,,ENST00000424216,;GZF1,non_coding_transcript_exon_variant,,ENST00000461789,;GZF1,upstream_gene_variant,,ENST00000477239,;	-	ENST00000338121	Transcript	inframe_deletion	978-980/4835	901-903/2136	301/711	E/-	GAG/-	rs765048872,TMP_ESP_20_23345921_23345923,COSM1724766	1		1	GZF1	HGNC	HGNC:15808	protein_coding	YES	CCDS13151.1	ENSP00000338290	Q9H116		UPI000013C35D	NM_001317012.1			2/6		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF170,Low_complexity_(Seg):seg											0,0,1						MODERATE	1	deletion	1	17	0,0,1	1										PASS		.	.												-	7	5	60	23365284	23365284	GAG	-	1	0	1	0	1	0	0	0	0	6796	943	33	0		0	GZF1	20	23365284	In_Frame_Del	DEL	GAG	C3N-00578_TP		23365284	41078883	23	19383											
PTPN1	0	.	GRCh38	chr20	50579907	50579907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggaagccccttaaatgccGcaccctacggcatcgaaagg	13	5	10	13	3	0	0	0	0	0	0	1	2	0	1	4	3	3	2	4	3	6	2	rs781220884		C3N-00578_TP	C3N-00578_NB	G	G																c.1069G>T	p.Ala357Ser	p.A357S	ENST00000371621	8/10	287	237	50	195	195	0	strelka-varscan-mutect	PTPN1,missense_variant,p.Ala357Ser,ENST00000371621,NM_002827.3;PTPN1,missense_variant,p.Ala284Ser,ENST00000541713,NM_001278618.1;RP4-530I15.9,upstream_gene_variant,,ENST00000431019,;	T	ENST00000371621	Transcript	missense_variant	1243/4008	1069/1308	357/435	A/S	Gca/Tca	rs781220884	1		1	PTPN1	HGNC	HGNC:9642	protein_coding	YES	CCDS13430.1	ENSP00000360683	P18031	A8K3M3	UPI000011DD79	NM_002827.3	tolerated(0.87)		8/10		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF239,PIRSF_domain:PIRSF000926																	MODERATE	1	SNV	1			1										PASS		rs781220884	.												T	3	4	60	50579907	50579907	G	T	1	0	0	0	0	1	0	0	0	12932	1087	38	1		1	PTPN1	20	50579907	Missense_Mutation	SNP	G	C3N-00578_TP	27214623	50579907	13864260	24	19384											
KCNQ2	0	.	GRCh38	chr20	63414950	63414950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgatgcggaaagcctggCgtgcccggctgcggtccccg	4	7	15	15	5	0	1	0	1	0	0	1	2	1	2	5	4	4	1	5	4	1	1	rs774040213		C3N-00578_TP	C3N-00578_NB	C	C																c.1478G>A	p.Arg493His	p.R493H	ENST00000359125	13/17	402	378	24	238	237	1	strelka-varscan-mutect	KCNQ2,missense_variant,p.Arg475His,ENST00000626839,NM_172106.1;KCNQ2,missense_variant,p.Arg493His,ENST00000359125,NM_172107.2;KCNQ2,missense_variant,p.Arg465His,ENST00000370224,;KCNQ2,missense_variant,p.Arg292His,ENST00000637193,;KCNQ2,missense_variant,p.Arg453His,ENST00000625514,;KCNQ2,missense_variant,p.Arg465His,ENST00000629241,;KCNQ2,missense_variant,p.Arg465His,ENST00000360480,NM_004518.4;KCNQ2,missense_variant,p.Arg463His,ENST00000344462,NM_172108.3;KCNQ2,missense_variant,p.Arg349His,ENST00000357249,;KCNQ2,missense_variant,p.Arg465His,ENST00000629676,;KCNQ2,missense_variant,p.Arg180His,ENST00000627221,;KCNQ2,missense_variant,p.Arg29His,ENST00000629318,;KCNQ2,upstream_gene_variant,,ENST00000636614,;KCNQ2,downstream_gene_variant,,ENST00000635867,;KCNQ2,upstream_gene_variant,,ENST00000636499,;KCNQ2,downstream_gene_variant,,ENST00000637584,;	T	ENST00000359125	Transcript	missense_variant	1605/3253	1478/2619	493/872	R/H	cGc/cAc	rs774040213	1		-1	KCNQ2	HGNC	HGNC:6296	protein_coding	YES	CCDS13520.1	ENSP00000352035	O43526		UPI00001279ED	NM_172107.2	deleterious(0.02)		13/17		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF6,Pfam_domain:PF03520																	MODERATE	1	SNV	1			1										PASS		rs774040213	.												T	3	4	60	63414950	63414950	C	T	1	0	0	0	0	1	0	0	0	7999	768	27	1		1	KCNQ2	20	63414950	Missense_Mutation	SNP	C	C3N-00578_TP	12835043	63414950	1029217	25	19385											
ZBED1	0	.	GRCh38	chrX	2489457	2489457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcagcagcggcttcacCatgctgatggtggggtacct	7	10	14	10	1	1	1	1	1	0	0	1	1	1	1	2	4	5	5	2	4	1	2	novel		C3N-00578_TP	C3N-00578_NB	C	C																c.1263G>A	p.Met421Ile	p.M421I	ENST00000381223	2/2	543	434	109	429	428	1	strelka-varscan-mutect	ZBED1,missense_variant,p.Met421Ile,ENST00000381223,NM_001171136.1,NM_004729.3;ZBED1,missense_variant,p.Met421Ile,ENST00000381222,;ZBED1,missense_variant,p.Met421Ile,ENST00000381218,NM_001171135.1;DHRSX,intron_variant,,ENST00000334651,NM_145177.2;DHRSX,intron_variant,,ENST00000444280,;DHRSX,intron_variant,,ENST00000412516,;ZBED1,downstream_gene_variant,,ENST00000461691,;DHRSX,intron_variant,,ENST00000430536,;ZBED1,upstream_gene_variant,,ENST00000515319,;DHRSX,intron_variant,,ENST00000478825,;DHRSX,intron_variant,,ENST00000441131,;	T	ENST00000381223	Transcript	missense_variant	1467/4510	1263/2085	421/694	M/I	atG/atA		1		-1	ZBED1	HGNC	HGNC:447	protein_coding	YES	CCDS14118.1	ENSP00000370621	O96006	A0A024RBU4	UPI0000073DE9	NM_001171136.1,NM_004729.3	tolerated(0.13)		2/2		hmmpanther:PTHR23272,hmmpanther:PTHR23272:SF35,Superfamily_domains:SSF53098																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	60	2489457	2489457	C	T	1	0	0	0	0	1	0	0	0	18079	594	21	3		3	ZBED1	23	2489457	Missense_Mutation	SNP	C	C3N-00578_TP		2489457	153551438	26	19386											
NLGN4X	0	.	GRCh38	chrX	5903472	5903472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccgtaaaggttgtccacGaagttggacacggagaagtc	12	8	13	8	3	0	1	0	0	0	1	2	4	1	2	2	3	1	3	2	3	5	4	rs771730382		C3N-00578_TP	C3N-00578_NB	G	G																c.1206C>A	p.Phe402Leu	p.F402L	ENST00000381095	5/6	192	101	91	143	143	0	strelka-varscan-mutect	NLGN4X,missense_variant,p.Phe402Leu,ENST00000381095,NM_181332.2,NM_001282145.1;NLGN4X,missense_variant,p.Phe402Leu,ENST00000381093,NM_001282146.1;NLGN4X,missense_variant,p.Phe402Leu,ENST00000275857,NM_020742.3;NLGN4X,missense_variant,p.Phe402Leu,ENST00000381092,;NLGN4X,missense_variant,p.Phe403Leu,ENST00000538097,;NLGN4X,upstream_gene_variant,,ENST00000477079,;	T	ENST00000381095	Transcript	missense_variant	1834/5870	1206/2451	402/816	F/L	ttC/ttA	rs771730382	1		-1	NLGN4X	HGNC	HGNC:14287	protein_coding	YES	CCDS14126.1	ENSP00000370485	Q8N0W4	A0A024RBV0	UPI0000072EC5	NM_181332.2,NM_001282145.1	deleterious(0)		5/6		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF260,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		rs771730382	.												T	3	4	60	5903472	5903472	G	T	1	0	0	0	0	1	0	0	0	10501	1049	37	1		1	NLGN4X	23	5903472	Missense_Mutation	SNP	G	C3N-00578_TP	3414015	5903472	150137423	27	19387											
DCAF8L2	0	.	GRCh38	chrX	27747321	27747321	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgaggaggaagaagaacagcc	16	0	22	3	0	0	2	0	0	0	2	0	12	0	11	1	9	2	0	1	9	3	0	novel		C3N-00578_TP	C3N-00578_NB	G	G																c.426G>A	p.=	p.E142E	ENST00000451261	5/5	47	40	7	28	28	0	varscan-mutect	DCAF8L2,synonymous_variant,p.=,ENST00000451261,;DCAF8L2,synonymous_variant,p.=,ENST00000545306,NM_001136533.1;DCAF8L2,downstream_gene_variant,,ENST00000431122,;DCAF8L2,downstream_gene_variant,,ENST00000583068,;	A	ENST00000451261	Transcript	synonymous_variant	825/2295	426/1896	142/631	E	gaG/gaA		1		1	DCAF8L2	HGNC	HGNC:31811	protein_coding	YES	CCDS59162.1	ENSP00000462745	P0C7V8		UPI000183CBD9				5/5		Gene3D:2.130.10.10,Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg																	LOW	1	SNV	4			1										PASS		rs1413543323	.												A	2	1	60	27747321	27747321	G	A	1	0	0	0	0	0	0	0	1	4079	991	35	3		3	DCAF8L2	23	27747321	Silent	SNP	G	C3N-00578_TP	21843849	27747321	128293574	28	19388											
TAF1	0	.	GRCh38	chrX	71382632	71382632	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtcgaattctcttagggaAaacaggagtcatcaaggagg	14	8	13	6	1	3	0	2	0	1	0	5	5	3	3	0	4	1	0	0	4	5	2	novel		C3N-00578_TP	C3N-00578_NB	A	A																c.1694A>G	p.Lys565Arg	p.K565R	ENST00000423759	10/39	92	52	40	103	103	0	strelka-varscan-mutect	TAF1,missense_variant,p.Lys565Arg,ENST00000423759,NM_001286074.1;TAF1,missense_variant,p.Lys544Arg,ENST00000373790,NM_138923.3;TAF1,missense_variant,p.Lys565Arg,ENST00000276072,NM_004606.4;TAF1,upstream_gene_variant,,ENST00000478305,;TAF1,downstream_gene_variant,,ENST00000483365,;TAF1,upstream_gene_variant,,ENST00000472567,;	G	ENST00000423759	Transcript	missense_variant	1770/7722	1694/5688	565/1895	K/R	aAa/aGa		1		1	TAF1	HGNC	HGNC:11535	protein_coding	YES	CCDS69783.1	ENSP00000406549	P21675		UPI000171708A	NM_001286074.1	tolerated(0.07)		10/39		PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	60	71382632	71382632	A	G	1	0	0	0	0	1	0	0	0	15909	14	1	5		5	TAF1	23	71382632	Missense_Mutation	SNP	A	C3N-00578_TP	43635311	71382632	84658263	29	19389											
ZC3H11A	0	.	GRCh38	chr1	203838052	203838052	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaaactaacattgacaaaAcaccaaagaaaggtacctgt	20	6	6	9	0	0	3	0	1	0	2	0	3	0	3	2	1	4	1	2	1	7	3	novel		C3N-00579_TP	C3N-00579_NB	A	A																c.961A>G	p.Thr321Ala	p.T321A	ENST00000545588	10/17	213	153	60	119	119	0	strelka-varscan-mutect	ZC3H11A,missense_variant,p.Thr321Ala,ENST00000545588,;ZC3H11A,missense_variant,p.Thr321Ala,ENST00000332127,NM_001319239.1;ZC3H11A,missense_variant,p.Thr321Ala,ENST00000367210,;ZC3H11A,missense_variant,p.Thr321Ala,ENST00000367214,;ZC3H11A,missense_variant,p.Thr321Ala,ENST00000367212,NM_014827.4;ZC3H11A,missense_variant,p.Thr321Ala,ENST00000453771,;ZC3H11A,missense_variant,p.Thr321Ala,ENST00000495527,;RP11-397P13.7,upstream_gene_variant,,ENST00000427282,;	G	ENST00000545588	Transcript	missense_variant	4788/7979	961/2433	321/810	T/A	Aca/Gca		1		1	ZC3H11A	HGNC	HGNC:29093	protein_coding	YES	CCDS30978.1	ENSP00000438527	O75152		UPI000006F3FD		tolerated(1)		10/17		hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	61	203838052	203838052	A	G	1	0	0	0	0	1	0	0	0	18134	43	2	5		5	ZC3H11A	1	203838052	Missense_Mutation	SNP	A	C3N-00579_TP		203838052	45118370	1	19390											
OBSCN	0	.	GRCh38	chr1	228372312	228372312	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgaccatgcgcaagttctcCctgggtggtcgcgggggcta	5	8	16	12	4	1	0	0	0	1	0	3	1	1	0	2	4	1	3	2	4	2	2	novel		C3N-00579_TP	C3N-00579_NB	C	C																c.24405C>T	p.=	p.S8135S	ENST00000570156	105/116	379	337	42	173	173	0	strelka-varscan-mutect	OBSCN,synonymous_variant,p.=,ENST00000570156,NM_001271223.2;OBSCN,synonymous_variant,p.=,ENST00000366707,;OBSCN,synonymous_variant,p.=,ENST00000422127,NM_001098623.2;OBSCN,synonymous_variant,p.=,ENST00000636875,;OBSCN,synonymous_variant,p.=,ENST00000636476,;	T	ENST00000570156	Transcript	synonymous_variant	24479/26925	24405/26772	8135/8923	S	tcC/tcT		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2			105/116																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	61	228372312	228372312	C	T	1	0	0	0	0	0	0	0	1	10889	610	22	3		3	OBSCN	1	228372312	Silent	SNP	C	C3N-00579_TP	24534260	228372312	20584110	2	19391											
SOX11	0	.	GRCh38	chr2	5694041	5694042	+	Frame_Shift_Ins	INS	-	-	T																															tctccgacctggtgttcacaINStattgaaaggcgcccgctgc																								novel		C3N-00579_TP	C3N-00579_NB	-	-																c.1321dupT	p.Tyr441LeufsTer61	p.Y441Lfs*61	ENST00000322002	1/1	83	74	9	60	60	0	sindel-varindel-pindel	SOX11,frameshift_variant,p.Tyr441LeufsTer61,ENST00000322002,NM_003108.3;AC108025.2,upstream_gene_variant,,ENST00000453678,;AC010729.1,upstream_gene_variant,,ENST00000455579,;LINC01248,upstream_gene_variant,,ENST00000458264,;AC108025.2,upstream_gene_variant,,ENST00000420221,;	T	ENST00000322002	Transcript	frameshift_variant	1375-1376/8719	1320-1321/1326	440-441/441	-/X	-/T		1		1	SOX11	HGNC	HGNC:11191	protein_coding	YES	CCDS1654.1	ENSP00000322568	P35716		UPI00001362AD	NM_003108.3			1/1		PIRSF_domain:PIRSF038098,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF113																	HIGH		insertion		1		1										PASS		.	.												T	7	5	61	5694041	5694041	-	T	1	0	1	1	0	0	0	0	0	15268	204	8	0		0	SOX11	2	5694041	Frame_Shift_Ins	INS	-	C3N-00579_TP		5694041	236499488	3	19392											
APOB	0	.	GRCh38	chr2	21013479	21013479	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttgccaccaaaaggcaaAggaatctcaattttcaaact	16	10	6	9	0	2	0	2	0	1	0	3	2	2	1	2	2	2	1	2	2	6	3	novel		C3N-00579_TP	C3N-00579_NB	A	A																c.3897T>G	p.=	p.P1299P	ENST00000233242	25/29	239	196	43	131	131	0	strelka-varscan-mutect	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;	C	ENST00000233242	Transcript	synonymous_variant	4025/14121	3897/13692	1299/4563	P	ccT/ccG		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			25/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	61	21013479	21013479	A	C	1	0	0	0	0	0	0	0	1	907	59	3	5		5	APOB	2	21013479	Silent	SNP	A	C3N-00579_TP	15319438	21013479	221180050	4	19393											
SCN2A	0	.	GRCh38	chr2	165388719	165388738	+	Frame_Shift_Del	DEL	GTCTGATCAAAGGAGCAAAG	GTCTGATCAAAGGAGCAAAG	-																															caggattggccgaatcctacGtctgatcaaaggagcaaagg																								novel		C3N-00579_TP	C3N-00579_NB	GTCTGATCAAAGGAGCAAAG	GTCTGATCAAAGGAGCAAAG																c.4914_4933delTCTGATCAAAGGAGCAAAGG	p.Leu1639AspfsTer17	p.L1639Dfs*17	ENST00000636071	28/28	471	423	48	553	553	0	sindel-varindel-pindel	SCN2A,frameshift_variant,p.Leu1639AspfsTer17,ENST00000636071,;SCN2A,frameshift_variant,p.Leu1507AspfsTer17,ENST00000636985,;SCN2A,frameshift_variant,p.Leu1639AspfsTer17,ENST00000637266,;SCN2A,frameshift_variant,p.Leu1639AspfsTer17,ENST00000375437,NM_001040142.1;SCN2A,frameshift_variant,p.Leu1639AspfsTer17,ENST00000283256,NM_021007.2;SCN2A,frameshift_variant,p.Leu1639AspfsTer17,ENST00000375427,NM_001040143.1;SCN2A,frameshift_variant,p.Leu1639AspfsTer17,ENST00000631182,;SCN2A,3_prime_UTR_variant,,ENST00000636662,;SCN2A,3_prime_UTR_variant,,ENST00000636384,;SCN2A,3_prime_UTR_variant,,ENST00000636769,;SCN2A,3_prime_UTR_variant,,ENST00000636135,;SCN2A,non_coding_transcript_exon_variant,,ENST00000480032,;	-	ENST00000636071	Transcript	frameshift_variant	5290-5309/9303	4913-4932/6018	1638-1644/2005	RLIKGAK/X	cGTCTGATCAAAGGAGCAAAG/c		1		1	SCN2A	HGNC	HGNC:10588	protein_coding	YES	CCDS33313.1	ENSP00000490107			UPI000002A663				28/28		Low_complexity_(Seg):seg,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324																	HIGH	1	deletion		1		1										PASS		.	.												-	7	5	61	165388719	165388719	GTCTGATCAAAGGAGCAAAG	-	1	0	1	0	1	0	0	0	0	14185	1145	40	0		0	SCN2A	2	165388719	Frame_Shift_Del	DEL	GTCTGATCAAAGGAGCAAAG	C3N-00579_TP	144375240	165388719	76804810	5	19394											
LRP2	0	.	GRCh38	chr2	169241098	169241098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccattgccaactaggaCagcgaaagggctgagtaggg	12	6	14	9	1	0	1	0	1	0	0	0	3	0	2	2	3	4	2	2	3	4	3	novel		C3N-00579_TP	C3N-00579_NB	C	C																c.3935G>A	p.Cys1312Tyr	p.C1312Y	ENST00000263816	25/79	110	90	20	80	80	0	strelka-varscan-mutect	LRP2,missense_variant,p.Cys1312Tyr,ENST00000263816,NM_004525.2;LRP2,missense_variant,p.Cys1175Tyr,ENST00000443831,;	T	ENST00000263816	Transcript	missense_variant	4221/15808	3935/13968	1312/4655	C/Y	tGt/tAt		1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2	deleterious(0)		25/79		Gene3D:4.10.400.10,PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF232,SMART_domains:SM00192,Superfamily_domains:SSF57424																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	61	169241098	169241098	C	T	1	0	0	0	0	1	0	0	0	8851	478	17	3		3	LRP2	2	169241098	Missense_Mutation	SNP	C	C3N-00579_TP	3852379	169241098	72952431	6	19395											
TTN	0	.	GRCh38	chr2	178601081	178601081	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatagtgggtaacaggggagCccccatcattcttcgggggt	8	10	14	9	1	2	0	1	0	1	0	3	1	2	1	2	5	2	1	2	5	3	5	novel		C3N-00579_TP	C3N-00579_NB	C	C																c.55823G>C	p.Gly18608Ala	p.G18608A	ENST00000589042	288/363	79	68	11	42	42	0	strelka-varscan-mutect	TTN,missense_variant,p.Gly18608Ala,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Gly16967Ala,ENST00000591111,;TTN,missense_variant,p.Gly16967Ala,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Gly16040Ala,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Gly9543Ala,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Gly9735Ala,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Gly9668Ala,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000610290,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000592689,;TTN-AS1,downstream_gene_variant,,ENST00000629117,;TTN-AS1,downstream_gene_variant,,ENST00000590932,;TTN-AS1,downstream_gene_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000626517,;	G	ENST00000589042	Transcript	missense_variant	56048/109224	55823/107976	18608/35991	G/A	gGc/gCc		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			288/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	61	178601081	178601081	C	G	1	0	0	0	0	1	0	0	0	17245	739	26	4		4	TTN	2	178601081	Missense_Mutation	SNP	C	C3N-00579_TP	9359983	178601081	63592448	7	19396											
KAT2B	0	.	GRCh38	chr3	20101391	20101391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctaaaccgcatcaactattgGcatctggaggcaccatctca	12	9	7	13	1	3	0	2	0	2	0	4	1	3	1	2	3	2	3	2	3	4	3	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.774G>T	p.Trp258Cys	p.W258C	ENST00000263754	5/18	345	274	71	184	183	1	strelka-varscan-mutect	KAT2B,missense_variant,p.Trp258Cys,ENST00000263754,NM_003884.4;KAT2B,downstream_gene_variant,,ENST00000426228,;	T	ENST00000263754	Transcript	missense_variant	1229/4833	774/2499	258/832	W/C	tgG/tgT		1		1	KAT2B	HGNC	HGNC:8638	protein_coding	YES	CCDS2634.1	ENSP00000263754	Q92831		UPI00002132DE	NM_003884.4	deleterious(0)		5/18		Pfam_domain:PF06466,PIRSF_domain:PIRSF003048,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF116																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	61	20101391	20101391	G	T	1	0	0	0	0	1	0	0	0	7896	1212	42	2		2	KAT2B	3	20101391	Missense_Mutation	SNP	G	C3N-00579_TP		20101391	178194168	8	19397											
DCP1A	0	.	GRCh38	chr3	53347392	53347392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcactcacccactggttGgccttggggcagaaggtgta	7	8	15	11	1	1	1	1	0	0	1	1	1	1	1	2	6	0	4	2	6	2	3	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.126C>T	p.=	p.A42A	ENST00000294241	1/9	88	67	21	61	61	0	strelka-varscan-mutect	DCP1A,synonymous_variant,p.=,ENST00000610213,NM_018403.6,NM_001290206.1,NM_001290205.1;DCP1A,synonymous_variant,p.=,ENST00000294241,NM_001290204.1;DCP1A,synonymous_variant,p.=,ENST00000559748,;CACNA1D,intron_variant,,ENST00000637424,;DCP1A,intron_variant,,ENST00000560624,;DCP1A,synonymous_variant,p.=,ENST00000560076,;	A	ENST00000294241	Transcript	synonymous_variant	134/1853	126/1635	42/544	A	gcC/gcT		1		-1	DCP1A	HGNC	HGNC:18714	protein_coding	YES	CCDS74946.1	ENSP00000476046	Q9NPI6		UPI00017A7307	NM_001290204.1			1/9		Gene3D:2.30.29.30,Pfam_domain:PF06058,hmmpanther:PTHR16290,hmmpanther:PTHR16290:SF4,Superfamily_domains:SSF50729																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	61	53347392	53347392	G	A	1	0	0	0	0	0	0	0	1	4100	1335	47	3		3	DCP1A	3	53347392	Silent	SNP	G	C3N-00579_TP	33246001	53347392	144948167	9	19398											
CACNA2D3	0	.	GRCh38	chr3	54899788	54899788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgttttttcttttcacagGaccagtcaataaaagcaatg	12	14	8	7	0	3	0	2	0	1	0	3	1	3	1	1	2	1	2	1	2	4	6	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.2369G>T	p.Gly790Val	p.G790V	ENST00000474759	27/38	247	207	40	163	163	0	strelka-varscan-mutect	CACNA2D3,missense_variant,p.Gly790Val,ENST00000474759,NM_018398.2;CACNA2D3,missense_variant,p.Gly790Val,ENST00000288197,;CACNA2D3,missense_variant,p.Gly790Val,ENST00000415676,;CACNA2D3,missense_variant,p.Gly696Val,ENST00000490478,;CACNA2D3,splice_region_variant,,ENST00000620722,;CACNA2D3-AS1,intron_variant,,ENST00000471265,;CACNA2D3,splice_region_variant,,ENST00000471363,;	T	ENST00000474759	Transcript	missense_variant,splice_region_variant	2417/3675	2369/3276	790/1091	G/V	gGa/gTa		1		1	CACNA2D3	HGNC	HGNC:15460	protein_coding	YES	CCDS54598.1	ENSP00000419101	Q8IZS8		UPI000004A7BF	NM_018398.2	tolerated(0.07)		27/38		hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF25,Pfam_domain:PF08473																	MODERATE	1	SNV	1			1										PASS		rs1189495439	.												T	3	4	61	54899788	54899788	G	T	1	0	0	0	0	1	0	0	0	2238	1188	41	2		2	CACNA2D3	3	54899788	Missense_Mutation	SNP	G	C3N-00579_TP	1552396	54899788	143395771	10	19399											
DNAH12	0	.	GRCh38	chr3	57453376	57453376	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctcattcagttggttctGaagttccttataatacttct	10	18	5	8	0	4	1	2	1	3	0	6	1	5	1	1	1	1	3	1	1	5	8	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.3484C>T	p.Gln1162Ter	p.Q1162*	ENST00000495027	24/74	137	121	16	117	116	1	strelka-varscan-mutect	DNAH12,stop_gained,p.Gln1162Ter,ENST00000495027,NM_001291661.1;DNAH12,stop_gained,p.Gln1139Ter,ENST00000351747,;	A	ENST00000495027	Transcript	stop_gained	3665/12146	3484/11883	1162/3960	Q/*	Cag/Tag		1		-1	DNAH12	HGNC	HGNC:2943	protein_coding			ENSP00000418137		E9PG32	UPI0004620994	NM_001291661.1			24/74		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF255																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	61	57453376	57453376	G	A	1	0	0	0	0	0	1	0	0	4414	1299	45	3		3	DNAH12	3	57453376	Nonsense_Mutation	SNP	G	C3N-00579_TP	2553588	57453376	140842183	11	19400											
DPPA4	0	.	GRCh38	chr3	109330758	109330759	+	Frame_Shift_Ins	INS	-	-	T																															tcccccttttccacctttaaINSttttttttgcaatgatttcc																								rs765696593		C3N-00579_TP	C3N-00579_NB	-	-																c.444dupA	p.Leu149IlefsTer14	p.L149Ifs*14	ENST00000335658	5/7	191	141	50	125	124	1	sindel-varindel	DPPA4,frameshift_variant,p.Leu149IlefsTer14,ENST00000335658,NM_018189.3;DPPA4,downstream_gene_variant,,ENST00000477303,;DPPA4,non_coding_transcript_exon_variant,,ENST00000478791,;DPPA4,intron_variant,,ENST00000463966,;DPPA4,3_prime_UTR_variant,,ENST00000495679,;DPPA4,non_coding_transcript_exon_variant,,ENST00000475135,;DPPA4,non_coding_transcript_exon_variant,,ENST00000487299,;DPPA4,downstream_gene_variant,,ENST00000489281,;	T	ENST00000335658	Transcript	frameshift_variant	499-500/2817	444-445/915	148-149/304	-/X	-/A	rs765696593	1		-1	DPPA4	HGNC	HGNC:19200	protein_coding	YES	CCDS33814.1	ENSP00000335306	Q7L190		UPI000022C153	NM_018189.3			5/7		hmmpanther:PTHR16073,hmmpanther:PTHR16073:SF8,Pfam_domain:PF14049																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	61	109330758	109330758	-	T	1	0	1	1	0	0	0	0	0	4551	98	4	0		0	DPPA4	3	109330758	Frame_Shift_Ins	INS	-	C3N-00579_TP	51877382	109330758	88964801	12	19401											
SH3TC1	0	.	GRCh38	chr4	8233395	8233395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcactggactacaccaaacGaagtctggggattttcattg	11	10	10	10	2	2	0	1	0	1	0	2	3	2	2	1	3	2	1	1	3	3	4			C3N-00579_TP	C3N-00579_NB	G	G																c.3164G>A	p.Arg1055Gln	p.R1055Q	ENST00000245105	14/18	103	88	15	95	95	0	strelka-varscan-mutect	SH3TC1,missense_variant,p.Arg1055Gln,ENST00000245105,NM_018986.3;SH3TC1,downstream_gene_variant,,ENST00000507801,;SH3TC1,3_prime_UTR_variant,,ENST00000515682,NM_001318480.1;SH3TC1,3_prime_UTR_variant,,ENST00000502669,;SH3TC1,3_prime_UTR_variant,,ENST00000511002,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000506360,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000502559,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000502350,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000508183,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000513495,;	A	ENST00000245105	Transcript	missense_variant	3231/4226	3164/4011	1055/1336	R/Q	cGa/cAa	COSM1694137	1		1	SH3TC1	HGNC	HGNC:26009	protein_coding	YES	CCDS3399.1	ENSP00000245105	Q8TE82		UPI000013CB93	NM_018986.3	tolerated(0.09)		14/18		Gene3D:1.25.40.10,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF3,Superfamily_domains:SSF48452											1						MODERATE	1	SNV	2		1	1										PASS		rs1309187912	.												A	3	1	61	8233395	8233395	G	A	1	0	0	0	0	1	0	0	0	14520	1058	37	1		1	SH3TC1	4	8233395	Missense_Mutation	SNP	G	C3N-00579_TP		8233395	181981160	13	19402											
FRAS1	0	.	GRCh38	chr4	78445575	78445575	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaggcatcatttcctattCaagacgtcctggaaaactac	13	11	7	10	1	2	2	2	0	0	2	4	3	4	3	2	2	2	1	2	2	6	5			C3N-00579_TP	C3N-00579_NB	C	C																c.5719C>T	p.Gln1907Ter	p.Q1907*	ENST00000512123	42/74	77	68	9	67	67	0	strelka-varscan-mutect	FRAS1,stop_gained,p.Gln1907Ter,ENST00000512123,NM_025074.6;FRAS1,stop_gained,p.Gln1907Ter,ENST00000325942,NM_001166133.1;FRAS1,stop_gained,p.Gln357Ter,ENST00000510944,;FRAS1,3_prime_UTR_variant,,ENST00000264899,;FRAS1,upstream_gene_variant,,ENST00000509802,;	T	ENST00000512123	Transcript	stop_gained	6159/15624	5719/12039	1907/4012	Q/*	Caa/Taa	COSM3826279,COSM3826280,COSM3826281	1		1	FRAS1	HGNC	HGNC:19185	protein_coding	YES	CCDS54771.1	ENSP00000422834	Q86XX4		UPI000021D4C2	NM_025074.6			42/74		Pfam_domain:PF16184,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF29											1,1,1						HIGH	1	SNV	5		1,1,1	1										PASS		.	.												T	4	4	61	78445575	78445575	C	T	1	0	0	0	0	0	1	0	0	5908	827	29	3		3	FRAS1	4	78445575	Nonsense_Mutation	SNP	C	C3N-00579_TP	70212180	78445575	111768980	14	19403											
ANK2	0	.	GRCh38	chr4	113292492	113292492	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtcctgctccagcatggggCcaagcccaacgccaccactg	8	5	10	18	2	0	0	0	0	0	0	2	0	2	0	6	2	4	2	6	2	2	0	novel		C3N-00579_TP	C3N-00579_NB	C	C																c.2354C>A	p.Ala785Asp	p.A785D	ENST00000357077	21/46	725	607	118	568	568	0	strelka-varscan-mutect	ANK2,missense_variant,p.Ala785Asp,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Ala785Asp,ENST00000264366,;ANK2,missense_variant,p.Ala764Asp,ENST00000506722,NM_001127493.1;ANK2,missense_variant,p.Ala785Asp,ENST00000394537,NM_020977.3;ANK2,missense_variant,p.Ala800Asp,ENST00000504454,;ANK2,missense_variant,p.Ala731Asp,ENST00000503423,;ANK2,missense_variant,p.Ala757Asp,ENST00000634436,;ANK2,missense_variant,p.Ala764Asp,ENST00000503271,;ANK2,upstream_gene_variant,,ENST00000509550,;ANK2,upstream_gene_variant,,ENST00000502701,;	A	ENST00000357077	Transcript	missense_variant	2407/14196	2354/11874	785/3957	A/D	gCc/gAc		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	deleterious(0.02)		21/46		Low_complexity_(Seg):seg,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,Pfam_domain:PF13857,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	61	113292492	113292492	C	A	1	0	0	0	0	1	0	0	0	721	739	26	2		2	ANK2	4	113292492	Missense_Mutation	SNP	C	C3N-00579_TP	34846917	113292492	76922063	15	19404											
DNAH5	0	.	GRCh38	chr5	13770861	13770861	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtagaacgtcggaatctctGaaaataatcaacacacttct	15	10	7	9	2	3	2	1	1	2	1	5	3	3	3	0	2	2	1	0	2	7	3			C3N-00579_TP	C3N-00579_NB	G	G																c.9493C>T	p.Gln3165Ter	p.Q3165*	ENST00000265104	56/79	693	622	71	377	377	0	strelka-varscan-mutect	DNAH5,stop_gained,p.Gln3165Ter,ENST00000265104,NM_001369.2;DNAH5,non_coding_transcript_exon_variant,,ENST00000504001,;	A	ENST00000265104	Transcript	stop_gained	9598/15633	9493/13875	3165/4624	Q/*	Cag/Tag	COSM5529978	1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2			56/79		hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676,Pfam_domain:PF12780,Superfamily_domains:SSF52540											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	61	13770861	13770861	G	A	1	0	0	0	0	0	1	0	0	4419	1299	45	3		3	DNAH5	5	13770861	Nonsense_Mutation	SNP	G	C3N-00579_TP		13770861	167767398	16	19405											
OXCT1	0	.	GRCh38	chr5	41870302	41870302	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaccaggttgccccagaTccgcgggcagaggcgcagag	8	6	15	12	3	0	3	0	0	0	3	1	3	1	3	4	3	2	4	4	3	1	3	novel		C3N-00579_TP	C3N-00579_NB	T	T																c.57A>C	p.=	p.G19G	ENST00000196371	1/17	708	644	64	407	407	0	strelka-varscan-mutect	OXCT1,synonymous_variant,p.=,ENST00000196371,NM_000436.3;OXCT1-AS1,non_coding_transcript_exon_variant,,ENST00000508458,;OXCT1-AS1,non_coding_transcript_exon_variant,,ENST00000510509,;	G	ENST00000196371	Transcript	synonymous_variant	218/3388	57/1563	19/520	G	ggA/ggC		1		-1	OXCT1	HGNC	HGNC:8527	protein_coding	YES	CCDS3937.1	ENSP00000196371	P55809	A0A024R040	UPI0000000C9A	NM_000436.3			1/17																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	61	41870302	41870302	T	G	1	0	0	0	0	0	0	0	1	11401	1422	50	5		5	OXCT1	5	41870302	Silent	SNP	T	C3N-00579_TP	28099441	41870302	139667957	17	19406											
GABBR1	0	.	GRCh38	chr6	29606958	29606958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgagagtgaggacatccatgCccaccagcaggcccactgtg	10	5	12	14	1	0	2	0	1	0	1	1	4	1	3	4	2	2	1	4	2	0	0	novel		C3N-00579_TP	C3N-00579_NB	C	C																c.2156G>T	p.Gly719Val	p.G719V	ENST00000377034	18/23	352	263	89	269	269	0	strelka-varscan-mutect	GABBR1,missense_variant,p.Gly719Val,ENST00000377034,NM_001470.2;GABBR1,missense_variant,p.Gly657Val,ENST00000377016,NM_021904.2;GABBR1,missense_variant,p.Gly602Val,ENST00000377012,NM_021903.2;GABBR1,missense_variant,p.Gly602Val,ENST00000355973,;GABBR1,downstream_gene_variant,,ENST00000376977,;GABBR1,3_prime_UTR_variant,,ENST00000472823,;GABBR1,3_prime_UTR_variant,,ENST00000491829,;GABBR1,3_prime_UTR_variant,,ENST00000494877,;GABBR1,upstream_gene_variant,,ENST00000478931,;GABBR1,downstream_gene_variant,,ENST00000473774,;GABBR1,upstream_gene_variant,,ENST00000488334,;GABBR1,upstream_gene_variant,,ENST00000486434,;GABBR1,downstream_gene_variant,,ENST00000489839,;	A	ENST00000377034	Transcript	missense_variant	2492/4527	2156/2886	719/961	G/V	gGc/gTc		1		-1	GABBR1	HGNC	HGNC:4070	protein_coding	YES	CCDS4663.1	ENSP00000366233	Q9UBS5		UPI000004618A	NM_001470.2	tolerated(0.57)		18/23		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF42,Pfam_domain:PF00003,Prints_domain:PR01176																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	61	29606958	29606958	C	A	1	0	0	0	0	1	0	0	0	6026	739	26	2		2	GABBR1	6	29606958	Missense_Mutation	SNP	C	C3N-00579_TP		29606958	141199021	18	19407											
TAP1	0	.	GRCh38	chr6	32848792	32848792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtactcaaatattttctCtgaggagcccacagccttct	10	12	7	12	0	3	1	1	1	2	0	4	2	3	2	2	2	3	1	2	2	3	5	novel		C3N-00579_TP	C3N-00579_NB	C	C																c.1606G>C	p.Glu536Gln	p.E536Q	ENST00000354258	7/11	488	348	140	335	335	0	strelka-varscan-mutect	TAP1,missense_variant,p.Glu536Gln,ENST00000354258,NM_000593.5,NM_001292022.1;PSMB9,intron_variant,,ENST00000395330,;PSMB9,intron_variant,,ENST00000414474,;PSMB8,upstream_gene_variant,,ENST00000374881,NM_004159.4;PSMB8,upstream_gene_variant,,ENST00000374882,NM_148919.3;PSMB8,upstream_gene_variant,,ENST00000395339,;PSMB8-AS1,downstream_gene_variant,,ENST00000453426,;PSMB8-AS1,downstream_gene_variant,,ENST00000412095,;PSMB8-AS1,downstream_gene_variant,,ENST00000429600,;PSMB8-AS1,downstream_gene_variant,,ENST00000458296,;PSMB8-AS1,downstream_gene_variant,,ENST00000413039,;PSMB8-AS1,downstream_gene_variant,,ENST00000415067,;TAP1,non_coding_transcript_exon_variant,,ENST00000486332,;PSMB8,upstream_gene_variant,,ENST00000484003,;TAP1,upstream_gene_variant,,ENST00000487296,;	G	ENST00000354258	Transcript	missense_variant	1768/2959	1606/2427	536/808	E/Q	Gag/Cag		1		-1	TAP1	HGNC	HGNC:43	protein_coding	YES	CCDS4758.1	ENSP00000346206	Q03518	A0A0S2Z5A6	UPI000002D4E6	NM_000593.5,NM_001292022.1	deleterious(0.01)		7/11		hmmpanther:PTHR24221:SF249,hmmpanther:PTHR24221,TIGRFAM_domain:TIGR00958,PIRSF_domain:PIRSF002773,Gene3D:2hydA01,Superfamily_domains:SSF90123																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	61	32848792	32848792	C	G	1	0	0	0	0	1	0	0	0	15949	922	32	4		4	TAP1	6	32848792	Missense_Mutation	SNP	C	C3N-00579_TP	3241834	32848792	137957187	19	19408											
PACSIN1	0	.	GRCh38	chr6	34530271	34530271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgtaccgtgagctggagCaggccatccggggggctgat	7	8	17	9	2	0	2	0	2	0	0	1	3	1	3	3	5	3	4	3	5	1	1	novel		C3N-00579_TP	C3N-00579_NB	C	C																c.817C>A	p.Gln273Lys	p.Q273K	ENST00000620693	7/10	164	125	39	82	82	0	strelka-varscan-mutect	PACSIN1,missense_variant,p.Gln273Lys,ENST00000620693,NM_020804.4;PACSIN1,missense_variant,p.Gln273Lys,ENST00000538621,NM_001199583.2;PACSIN1,missense_variant,p.Gln273Lys,ENST00000244458,;PACSIN1,missense_variant,p.Gln231Lys,ENST00000374043,;PACSIN1,downstream_gene_variant,,ENST00000486120,;PACSIN1,downstream_gene_variant,,ENST00000487760,;PACSIN1,downstream_gene_variant,,ENST00000493633,;	A	ENST00000620693	Transcript	missense_variant	1090/4299	817/1335	273/444	Q/K	Cag/Aag		1		1	PACSIN1	HGNC	HGNC:8570	protein_coding	YES	CCDS4793.1	ENSP00000484060	Q9BY11	Q5TZC3	UPI000000D983	NM_020804.4	deleterious(0.03)		7/10		PROSITE_profiles:PS51741,hmmpanther:PTHR23065:SF16,hmmpanther:PTHR23065,Superfamily_domains:SSF103657																	MODERATE	1	SNV	1			1										PASS		rs1452745537	.												A	3	1	61	34530271	34530271	C	A	1	0	0	0	0	1	0	0	0	11452	711	25	2		2	PACSIN1	6	34530271	Missense_Mutation	SNP	C	C3N-00579_TP	1681479	34530271	136275708	20	19409											
ABCC10	0	.	GRCh38	chr6	43445842	43445842	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagggcctcctcacgggagCtgcggcgcctgggcagcctc	5	5	15	16	3	1	0	1	0	0	0	3	1	2	1	4	4	3	2	4	4	0	0	novel		C3N-00579_TP	C3N-00579_NB	C	C																c.3274C>T	p.=	p.L1092L	ENST00000372530	15/22	417	324	93	245	245	0	strelka-varscan-mutect	ABCC10,synonymous_variant,p.=,ENST00000244533,NM_033450.2;ABCC10,synonymous_variant,p.=,ENST00000372530,NM_001198934.1;DLK2,downstream_gene_variant,,ENST00000357338,NM_206539.2;DLK2,downstream_gene_variant,,ENST00000372488,NM_023932.3;DLK2,downstream_gene_variant,,ENST00000372485,NM_001286656.1,NM_001286655.1;DLK2,downstream_gene_variant,,ENST00000430324,;ABCC10,downstream_gene_variant,,ENST00000372515,;ABCC10,upstream_gene_variant,,ENST00000505344,;ABCC10,non_coding_transcript_exon_variant,,ENST00000463024,;ABCC10,intron_variant,,ENST00000372512,;ABCC10,upstream_gene_variant,,ENST00000437104,;ABCC10,downstream_gene_variant,,ENST00000469856,;	T	ENST00000372530	Transcript	synonymous_variant	3489/5033	3274/4479	1092/1492	L	Ctg/Ttg		1		1	ABCC10	HGNC	HGNC:52	protein_coding	YES	CCDS56430.1	ENSP00000361608	Q5T3U5	A0A024RD21	UPI000004A062	NM_001198934.1			15/22		PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF235,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	61	43445842	43445842	C	T	1	0	0	0	0	0	0	0	1	54	796	28	3		3	ABCC10	6	43445842	Silent	SNP	C	C3N-00579_TP	8915571	43445842	127360137	21	19410											
HECW1	0	.	GRCh38	chr7	43444316	43444316	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagtggggaacctcggTctgaggcaccagagtcctct	7	7	15	12	2	2	2	0	1	2	1	4	3	3	3	3	5	1	2	3	5	1	0	novel		C3N-00579_TP	C3N-00579_NB	T	T																c.1144T>A	p.Ser382Thr	p.S382T	ENST00000395891	11/30	274	241	33	150	150	0	strelka-mutect	HECW1,missense_variant,p.Ser382Thr,ENST00000395891,NM_015052.4;HECW1,missense_variant,p.Ser382Thr,ENST00000453890,NM_001287059.1;HECW1,downstream_gene_variant,,ENST00000471043,;	A	ENST00000395891	Transcript	missense_variant	1749/9501	1144/4821	382/1606	S/T	Tct/Act		1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4	tolerated_low_confidence(0.67)		11/30		Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	61	43444316	43444316	T	A	1	0	0	0	0	1	0	0	0	6924	1667	58	4		4	HECW1	7	43444316	Missense_Mutation	SNP	T	C3N-00579_TP		43444316	115901657	22	19411			1	16		2	2	17	N	T_C	3.678372e-05
HECW1	0	.	GRCh38	chr7	43444332	43444332	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggtctgaggcaccagagtCctctgagagctggaagccag	9	7	14	11	1	2	3	0	2	2	2	4	5	3	4	3	3	2	2	3	3	1	0			C3N-00579_TP	C3N-00579_NB	C	C																c.1160C>A	p.Ser387Tyr	p.S387Y	ENST00000395891	11/30	301	262	39	157	156	1	strelka-mutect	HECW1,missense_variant,p.Ser387Tyr,ENST00000395891,NM_015052.4;HECW1,missense_variant,p.Ser387Tyr,ENST00000453890,NM_001287059.1;HECW1,downstream_gene_variant,,ENST00000471043,;	A	ENST00000395891	Transcript	missense_variant	1765/9501	1160/4821	387/1606	S/Y	tCc/tAc	COSM390862	1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4	tolerated_low_confidence(0.66)		11/30		Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	61	43444332	43444332	C	A	1	0	0	0	0	1	0	0	0	6924	855	30	2		2	HECW1	7	43444332	Missense_Mutation	SNP	C	C3N-00579_TP	16	43444332	115901641	23	19412			1	16		2	2	17	N	T_C	3.678372e-05
ABCA13	0	.	GRCh38	chr7	48275377	48275377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctattcttctggagctctCtgaagtcttccatgttaaca	8	17	6	10	0	5	1	0	1	5	0	7	2	6	2	1	1	2	2	1	1	3	6	novel		C3N-00579_TP	C3N-00579_NB	C	C																c.5711C>T	p.Ser1904Phe	p.S1904F	ENST00000435803	17/62	657	552	105	374	374	0	strelka-varscan-mutect	ABCA13,missense_variant,p.Ser1904Phe,ENST00000435803,NM_152701.4;ABCA13,upstream_gene_variant,,ENST00000544596,;ABCA13,upstream_gene_variant,,ENST00000611776,;ABCA13,downstream_gene_variant,,ENST00000417403,;	T	ENST00000435803	Transcript	missense_variant	5735/17184	5711/15177	1904/5058	S/F	tCt/tTt		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4	tolerated(0.09)		17/62																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	61	48275377	48275377	C	T	1	0	0	0	0	1	0	0	0	35	913	32	3		3	ABCA13	7	48275377	Missense_Mutation	SNP	C	C3N-00579_TP	4831045	48275377	111070596	24	19413											
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcacagattttgggcTggccaaactgctgggtgcgg	9	9	14	9	1	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	2	2	rs121434568		C3N-00579_TP	C3N-00579_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	786	592	194	452	451	1	strelka-varscan-mutect	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		rs121434568	.												G	3	3	61	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3N-00579_TP	6916445	55191822	104154151	25	19414											
LHFPL3	0	.	GRCh38	chr7	104329208	104329208	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgtacaagatatgtgcctgGatgcagctcacctccggtga	9	10	12	10	1	1	2	1	1	0	1	2	3	2	3	3	2	4	3	3	2	3	2	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.387G>C	p.Trp129Cys	p.W129C	ENST00000424859	1/3	106	98	8	47	47	0	strelka-varscan-mutect	LHFPL3,missense_variant,p.Trp129Cys,ENST00000424859,NM_199000.2;LHFPL3,missense_variant,p.Trp129Cys,ENST00000401970,;	C	ENST00000424859	Transcript	missense_variant	553/1852	387/669	129/222	W/C	tgG/tgC		1		1	LHFPL3	HGNC	HGNC:6589	protein_coding	YES		ENSP00000393128	Q86UP9		UPI000020F876	NM_199000.2	deleterious(0)		1/3		Transmembrane_helices:TMhelix,hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF13,Pfam_domain:PF10242																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	61	104329208	104329208	G	C	1	0	0	0	0	1	0	0	0	8675	1183	41	4		4	LHFPL3	7	104329208	Missense_Mutation	SNP	G	C3N-00579_TP	49137386	104329208	55016765	26	19415											
GRM8	0	.	GRCh38	chr7	126609456	126609456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatatcataacgtccaggaGcatctccgttttcattaaaa	14	12	6	9	2	3	1	2	0	1	1	5	2	4	2	2	1	2	2	2	1	4	5	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.1400C>T	p.Ala467Val	p.A467V	ENST00000339582	8/11	268	234	34	163	163	0	strelka-varscan-mutect	GRM8,missense_variant,p.Ala467Val,ENST00000339582,NM_000845.2;GRM8,missense_variant,p.Ala467Val,ENST00000358373,NM_001127323.1;GRM8,intron_variant,,ENST00000480995,;GRM8,missense_variant,p.Ala467Val,ENST00000472701,;GRM8,missense_variant,p.Leu491Phe,ENST00000341617,;	A	ENST00000339582	Transcript	missense_variant	2209/4057	1400/2727	467/908	A/V	gCt/gTt		1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2	deleterious(0.01)		8/11		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Superfamily_domains:SSF53822																	MODERATE	1	SNV	5			1										PASS		rs1469354095	.												A	3	1	61	126609456	126609456	G	A	1	0	0	0	0	1	0	0	0	6685	971	34	3		3	GRM8	7	126609456	Missense_Mutation	SNP	G	C3N-00579_TP	22280248	126609456	32736517	27	19416											
PDIA4	0	.	GRCh38	chr7	149011972	149011972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaatctccttggagggagGcccggactgctcgatcatgt	8	9	13	11	2	2	1	1	0	1	1	4	5	2	4	2	4	1	1	2	4	1	1	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.853C>A	p.Pro285Thr	p.P285T	ENST00000286091	6/10	47	42	5	35	35	0	strelka-mutect	PDIA4,missense_variant,p.Pro285Thr,ENST00000286091,NM_004911.4;	T	ENST00000286091	Transcript	missense_variant	1086/2903	853/1938	285/645	P/T	Cct/Act		1		-1	PDIA4	HGNC	HGNC:30167	protein_coding	YES	CCDS5893.1	ENSP00000286091	P13667	A0A090N8Y2	UPI000004062C	NM_004911.4	deleterious(0)		6/10		PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF110,TIGRFAM_domain:TIGR01130,PIRSF_domain:PIRSF036862,Gene3D:3.40.30.10,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	61	149011972	149011972	G	T	1	0	0	0	0	1	0	0	0	11758	1203	42	2		2	PDIA4	7	149011972	Missense_Mutation	SNP	G	C3N-00579_TP	22402516	149011972	10334001	28	19417											
ZCCHC7	0	.	GRCh38	chr9	37349409	37349409	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccttcaagaccatcagcctTagcatattgctatcactgcg	10	11	6	14	1	3	1	3	0	0	1	3	1	3	1	3	0	4	2	3	0	4	5	novel		C3N-00579_TP	C3N-00579_NB	T	T																c.1040T>A	p.Leu347Ter	p.L347*	ENST00000534928	7/9	329	282	47	141	141	0	strelka-varscan-mutect	ZCCHC7,stop_gained,p.Leu347Ter,ENST00000534928,NM_001289121.1,NM_001289120.1;ZCCHC7,stop_gained,p.Leu347Ter,ENST00000336755,NM_032226.2,NM_001289119.1;ZCCHC7,non_coding_transcript_exon_variant,,ENST00000461038,;ZCCHC7,non_coding_transcript_exon_variant,,ENST00000481507,;ZCCHC7,non_coding_transcript_exon_variant,,ENST00000488607,;ZCCHC7,non_coding_transcript_exon_variant,,ENST00000463625,;ZCCHC7,non_coding_transcript_exon_variant,,ENST00000496099,;ZCCHC7,non_coding_transcript_exon_variant,,ENST00000497924,;	A	ENST00000534928	Transcript	stop_gained	1358/2828	1040/1632	347/543	L/*	tTa/tAa		1		1	ZCCHC7	HGNC	HGNC:26209	protein_coding	YES	CCDS6608.2	ENSP00000443113	Q8N3Z6		UPI0000036027	NM_001289121.1,NM_001289120.1			7/9		hmmpanther:PTHR23002:SF11,hmmpanther:PTHR23002,Gene3D:4.10.60.10																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	61	37349409	37349409	T	A	1	0	0	0	0	0	1	0	0	18168	1764	61	4		4	ZCCHC7	9	37349409	Nonsense_Mutation	SNP	T	C3N-00579_TP		37349409	101045308	29	19418											
TRPM6	0	.	GRCh38	chr9	74742612	74742612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgagaaagcctcattaaatTattcctttcaatggctgcaa	13	13	6	9	0	2	1	2	1	0	1	3	2	3	1	2	1	2	2	2	1	6	4	novel		C3N-00579_TP	C3N-00579_NB	T	T																c.5149A>G	p.Asn1717Asp	p.N1717D	ENST00000360774	33/39	474	419	55	305	305	0	strelka-varscan-mutect	TRPM6,missense_variant,p.Asn1717Asp,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Asn1712Asp,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Asn1712Asp,ENST00000449912,NM_001177310.1;	C	ENST00000360774	Transcript	missense_variant	5387/8425	5149/6069	1717/2022	N/D	Aat/Gat		1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4	deleterious(0.01)		33/39		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	61	74742612	74742612	T	C	1	0	0	0	0	1	0	0	0	17096	1754	61	5		5	TRPM6	9	74742612	Missense_Mutation	SNP	T	C3N-00579_TP	37393203	74742612	63652105	30	19419											
SPTAN1	0	.	GRCh38	chr9	128582734	128582734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcacgagagagccatgcGtcgccgggcccagctagccg	7	5	13	16	5	1	1	1	0	0	1	2	3	1	1	5	1	4	1	5	1	1	2	rs201168391		C3N-00579_TP	C3N-00579_NB	G	G																c.1691G>A	p.Arg564His	p.R564H	ENST00000372739	14/57	473	379	94	335	335	0	strelka-varscan-mutect	SPTAN1,missense_variant,p.Arg564His,ENST00000372731,NM_003127.3;SPTAN1,missense_variant,p.Arg564His,ENST00000372739,NM_001130438.2;SPTAN1,missense_variant,p.Arg564His,ENST00000630804,;SPTAN1,missense_variant,p.Arg564His,ENST00000358161,NM_001195532.1;SPTAN1,missense_variant,p.Arg564His,ENST00000630866,;SPTAN1,non_coding_transcript_exon_variant,,ENST00000635853,;SPTAN1,non_coding_transcript_exon_variant,,ENST00000625282,;SPTAN1,downstream_gene_variant,,ENST00000472211,;	A	ENST00000372739	Transcript	missense_variant	1801/7868	1691/7434	564/2477	R/H	cGt/cAt	rs201168391	1		1	SPTAN1	HGNC	HGNC:11273	protein_coding	YES	CCDS48036.1	ENSP00000361824	Q13813		UPI000045894C	NM_001130438.2	tolerated(0.3)		14/57		hmmpanther:PTHR11915:SF283,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		rs201168391	.												A	3	1	61	128582734	128582734	G	A	1	0	0	0	0	1	0	0	0	15473	1145	40	1		1	SPTAN1	9	128582734	Missense_Mutation	SNP	G	C3N-00579_TP	53840122	128582734	9811983	31	19420											
GTF3C5	0	.	GRCh38	chr9	133042151	133042151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggacccatactgccaccCagtgtgcgccaaccgcttca	10	6	8	17	2	1	0	1	0	0	0	1	1	1	1	5	1	4	1	5	1	3	2	novel		C3N-00579_TP	C3N-00579_NB	C	C																c.218C>T	p.Pro73Leu	p.P73L	ENST00000372108	2/12	376	316	60	352	352	0	strelka-varscan-mutect	GTF3C5,missense_variant,p.Pro73Leu,ENST00000372097,NM_012087.3;GTF3C5,missense_variant,p.Pro73Leu,ENST00000372108,NM_001122823.1;GTF3C5,missense_variant,p.Pro73Leu,ENST00000342018,;GTF3C5,missense_variant,p.Pro26Leu,ENST00000440319,;GTF3C5,intron_variant,,ENST00000372099,NM_001286709.1;GTF3C5,intron_variant,,ENST00000439697,;GTF3C5,intron_variant,,ENST00000485692,;	T	ENST00000372108	Transcript	missense_variant	226/2110	218/1581	73/526	P/L	cCa/cTa		1		1	GTF3C5	HGNC	HGNC:4668	protein_coding	YES	CCDS48050.1	ENSP00000361180	Q9Y5Q8		UPI000046FE5A	NM_001122823.1	deleterious(0)		2/12		Pfam_domain:PF09734,hmmpanther:PTHR13230																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	61	133042151	133042151	C	T	1	0	0	0	0	1	0	0	0	6757	594	21	3		3	GTF3C5	9	133042151	Missense_Mutation	SNP	C	C3N-00579_TP	4459417	133042151	5352566	32	19421											
WAC	0	.	GRCh38	chr10	28608213	28608213	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaggagacaaacccgtatCacattcttgcacaactcctt	13	10	5	13	1	3	1	2	0	1	1	4	2	4	1	2	1	3	2	2	1	3	4			C3N-00579_TP	C3N-00579_NB	C	C																c.947C>G	p.Ser316Ter	p.S316*	ENST00000354911	8/14	325	297	28	266	266	0	strelka-varscan-mutect	WAC,stop_gained,p.Ser271Ter,ENST00000375664,NM_100264.2;WAC,stop_gained,p.Ser316Ter,ENST00000354911,NM_016628.4;WAC,stop_gained,p.Ser213Ter,ENST00000347934,NM_100486.3;WAC,stop_gained,p.Ser168Ter,ENST00000375646,;WAC,3_prime_UTR_variant,,ENST00000628285,;WAC,3_prime_UTR_variant,,ENST00000428935,;WAC,stop_gained,p.Ser271Ter,ENST00000439676,;WAC,3_prime_UTR_variant,,ENST00000424454,;WAC,non_coding_transcript_exon_variant,,ENST00000345541,;WAC,non_coding_transcript_exon_variant,,ENST00000476046,;WAC,upstream_gene_variant,,ENST00000495268,;	G	ENST00000354911	Transcript	stop_gained	1108/3042	947/1944	316/647	S/*	tCa/tGa	COSM1297202	1		1	WAC	HGNC	HGNC:17327	protein_coding	YES	CCDS7159.1	ENSP00000346986	Q9BTA9		UPI000013D398	NM_016628.4			8/14		hmmpanther:PTHR15911,hmmpanther:PTHR15911:SF6											1						HIGH	1	SNV	1		1	1										PASS		.	.												G	4	3	61	28608213	28608213	C	G	1	0	0	0	0	0	1	0	0	17807	838	29	4		4	WAC	10	28608213	Nonsense_Mutation	SNP	C	C3N-00579_TP		28608213	105189209	33	19422											
F2	0	.	GRCh38	chr11	46719826	46719826	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagacgtgcagctacgaGgaggccttcgaggctctgga	9	6	17	9	3	1	1	0	0	1	1	2	7	1	3	1	5	3	3	1	5	1	2	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.204G>C	p.Glu68Asp	p.E68D	ENST00000311907	2/14	392	338	54	323	323	0	strelka-varscan-mutect	F2,missense_variant,p.Glu68Asp,ENST00000311907,NM_001311257.1,NM_000506.3;F2,missense_variant,p.Glu68Asp,ENST00000530231,;F2,missense_variant,p.Glu58Asp,ENST00000442468,;F2,non_coding_transcript_exon_variant,,ENST00000469189,;F2,upstream_gene_variant,,ENST00000490274,;	C	ENST00000311907	Transcript	missense_variant	260/2023	204/1869	68/622	E/D	gaG/gaC		1		1	F2	HGNC	HGNC:3535	protein_coding	YES	CCDS31476.1	ENSP00000308541	P00734		UPI0000136ECD	NM_001311257.1,NM_000506.3	deleterious(0)		2/14		Gene3D:4.10.740.10,Pfam_domain:PF00594,PIRSF_domain:PIRSF001149,Prints_domain:PR00001,PROSITE_patterns:PS00011,PROSITE_profiles:PS50998,hmmpanther:PTHR24254,hmmpanther:PTHR24254:SF10,SMART_domains:SM00069,Superfamily_domains:SSF57630																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	61	46719826	46719826	G	C	1	0	0	0	0	1	0	0	0	5210	991	35	4		4	F2	11	46719826	Missense_Mutation	SNP	G	C3N-00579_TP		46719826	88366796	34	19423											
OR5M8	0	.	GRCh38	chr11	56490769	56490769	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaggttccagccagccAcaataaacattgacaactcc	17	6	6	12	0	0	2	0	1	0	1	2	2	2	2	4	1	4	1	4	1	6	3	novel		C3N-00579_TP	C3N-00579_NB	A	A																c.602T>A	p.Val201Glu	p.V201E	ENST00000327216	1/1	250	225	25	224	224	0	strelka-varscan-mutect	OR5M8,missense_variant,p.Val201Glu,ENST00000327216,NM_001005282.1;CTD-3051L14.13,upstream_gene_variant,,ENST00000525853,;	T	ENST00000327216	Transcript	missense_variant	602/936	602/936	201/311	V/E	gTg/gAg		1		-1	OR5M8	HGNC	HGNC:14846	protein_coding	YES	CCDS31533.1	ENSP00000323354	Q8NGP6	A0A126GWD6	UPI00000405CC	NM_001005282.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF146,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	61	56490769	56490769	A	T	1	0	0	0	0	1	0	0	0	11245	159	6	4		4	OR5M8	11	56490769	Missense_Mutation	SNP	A	C3N-00579_TP	9770943	56490769	78595853	35	19424											
RBM14	0	.	GRCh38	chr11	66625460	66625469	+	Frame_Shift_Del	DEL	TGCTGCCCAG	TGCTGCCCAG	-																															gcctcattggctgcttcctaTgctgcccagcagcatcccca																								novel		C3N-00579_TP	C3N-00579_NB	TGCTGCCCAG	TGCTGCCCAG																c.1584_1593delTGCTGCCCAG	p.Ala529SerfsTer77	p.A529Sfs*77	ENST00000310137	2/3	150	126	24	120	120	0	sindel-varindel-pindel	RBM14,frameshift_variant,p.Ala529SerfsTer77,ENST00000310137,NM_006328.3;RBM14-RBM4,intron_variant,,ENST00000412278,NM_001198845.1;RBM14,intron_variant,,ENST00000393979,NM_001198836.1;RBM14-RBM4,intron_variant,,ENST00000500635,NM_001198846.1;RBM14,intron_variant,,ENST00000409738,NM_001198837.1;RBM14,downstream_gene_variant,,ENST00000409372,;RBM14,downstream_gene_variant,,ENST00000443702,;RBM14-RBM4,intron_variant,,ENST00000511114,;RBM14,downstream_gene_variant,,ENST00000461478,;RBM14,downstream_gene_variant,,ENST00000496694,;RBM14-RBM4,intron_variant,,ENST00000421355,;	-	ENST00000310137	Transcript	frameshift_variant	1723-1732/2828	1584-1593/2010	528-531/669	YAAQ/X	taTGCTGCCCAG/ta		1		1	RBM14	HGNC	HGNC:14219	protein_coding	YES	CCDS8147.1	ENSP00000311747	Q96PK6	A0A0S2Z4Z0	UPI0000073D46	NM_006328.3			2/3		Low_complexity_(Seg):seg																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	61	66625460	66625460	TGCTGCCCAG	-	1	0	1	0	1	0	0	0	0	13281	1471	51	0		0	RBM14	11	66625460	Frame_Shift_Del	DEL	TGCTGCCCAG	C3N-00579_TP	10134691	66625460	68461162	36	19425											
KDM2A	0	.	GRCh38	chr11	67231877	67231877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggccttcgctgccttgtaGataagttggagtctctgcca	8	12	11	10	1	1	1	0	0	1	1	3	2	1	2	3	2	2	3	3	2	3	5			C3N-00579_TP	C3N-00579_NB	G	G																c.1396G>A	p.Asp466Asn	p.D466N	ENST00000529006	12/21	263	248	15	199	199	0	strelka-varscan-mutect	KDM2A,missense_variant,p.Asp466Asn,ENST00000529006,NM_012308.2;KDM2A,missense_variant,p.Asp466Asn,ENST00000398645,;KDM2A,missense_variant,p.Asp449Asn,ENST00000308783,;KDM2A,non_coding_transcript_exon_variant,,ENST00000526258,;KDM2A,non_coding_transcript_exon_variant,,ENST00000531696,;KDM2A,non_coding_transcript_exon_variant,,ENST00000525041,;	A	ENST00000529006	Transcript	missense_variant	1842/6967	1396/3489	466/1162	D/N	Gat/Aat	COSM3953703	1		1	KDM2A	HGNC	HGNC:13606	protein_coding	YES	CCDS44657.1	ENSP00000432786	Q9Y2K7	I3VM53	UPI00001678A9	NM_012308.2	tolerated(0.18)		12/21		hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF3											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	61	67231877	67231877	G	A	1	0	0	0	0	1	0	0	0	8042	942	33	3		3	KDM2A	11	67231877	Missense_Mutation	SNP	G	C3N-00579_TP	606417	67231877	67854745	37	19426											
SSH3	0	.	GRCh38	chr11	67311799	67311799	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggggcaggggcaggggcaggGagagccctgcatttcctcta	7	6	18	10	0	1	1	0	0	1	1	2	2	2	1	2	7	2	4	2	7	1	2	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.1892G>C	p.Gly631Ala	p.G631A	ENST00000308127	14/14	228	194	34	308	308	0	strelka-varscan-mutect	SSH3,missense_variant,p.Gly485Ala,ENST00000376757,;SSH3,missense_variant,p.Gly631Ala,ENST00000308127,NM_017857.3;SSH3,missense_variant,p.Gly366Ala,ENST00000308298,;SSH3,downstream_gene_variant,,ENST00000532181,;SSH3,downstream_gene_variant,,ENST00000527821,;SSH3,intron_variant,,ENST00000525913,;SSH3,downstream_gene_variant,,ENST00000529224,;SSH3,downstream_gene_variant,,ENST00000531495,;SSH3,3_prime_UTR_variant,,ENST00000532881,;SSH3,downstream_gene_variant,,ENST00000532600,;	C	ENST00000308127	Transcript	missense_variant	2070/2871	1892/1980	631/659	G/A	gGa/gCa		1		1	SSH3	HGNC	HGNC:30581	protein_coding	YES	CCDS8157.1	ENSP00000312081	Q8TE77	A0A024R5J4	UPI0000038D01	NM_017857.3	tolerated_low_confidence(0.22)		14/14		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	61	67311799	67311799	G	C	1	0	0	0	0	1	0	0	0	15562	1174	41	4		4	SSH3	11	67311799	Missense_Mutation	SNP	G	C3N-00579_TP	79922	67311799	67774823	38	19427											
GPR152	0	.	GRCh38	chr11	67451924	67451924	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagcaggtagccagagtaGacgtcccacaggaaggccag	13	3	14	11	1	0	3	0	0	0	3	1	4	1	4	3	3	2	3	3	3	3	2	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.801C>G	p.=	p.V267V	ENST00000312457	1/1	340	315	25	259	259	0	strelka-varscan-mutect	GPR152,synonymous_variant,p.=,ENST00000312457,NM_206997.1;CABP4,upstream_gene_variant,,ENST00000325656,NM_145200.3;CABP4,upstream_gene_variant,,ENST00000438189,NM_001300896.1,NM_001300895.1;CABP4,upstream_gene_variant,,ENST00000542025,;CABP4,upstream_gene_variant,,ENST00000538060,;CABP4,upstream_gene_variant,,ENST00000542233,;CABP4,upstream_gene_variant,,ENST00000545040,;CABP4,upstream_gene_variant,,ENST00000545777,;	C	ENST00000312457	Transcript	synonymous_variant	806/1429	801/1413	267/470	V	gtC/gtG		1		-1	GPR152	HGNC	HGNC:23622	protein_coding	YES	CCDS8165.1	ENSP00000310255	Q8TDT2	A0A0I9RJ67	UPI000003B364	NM_206997.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF1,hmmpanther:PTHR11334,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	LOW		SNV				1										PASS		rs1018548389	.												C	2	2	61	67451924	67451924	G	C	1	0	0	0	0	0	0	0	1	6544	929	33	4		4	GPR152	11	67451924	Silent	SNP	G	C3N-00579_TP	140125	67451924	67634698	39	19428											
EMSY	0	.	GRCh38	chr11	76544696	76544696	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagtacaggtgcttgcagtGaaaaccacgcagcagctccc	11	7	11	12	1	0	1	0	1	0	0	1	1	1	1	2	1	6	7	2	1	4	3	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.3192G>C	p.=	p.V1064V	ENST00000524767	19/21	442	388	54	330	330	0	strelka-varscan-mutect	EMSY,synonymous_variant,p.=,ENST00000529032,;EMSY,synonymous_variant,p.=,ENST00000334736,NM_020193.4;EMSY,synonymous_variant,p.=,ENST00000525038,NM_001300944.1;EMSY,synonymous_variant,p.=,ENST00000524767,NM_001300942.1;EMSY,synonymous_variant,p.=,ENST00000525919,NM_001300943.1;EMSY,synonymous_variant,p.=,ENST00000524490,;EMSY,synonymous_variant,p.=,ENST00000533248,;EMSY,synonymous_variant,p.=,ENST00000532719,;EMSY,downstream_gene_variant,,ENST00000524451,;EMSY,upstream_gene_variant,,ENST00000531793,;EMSY,non_coding_transcript_exon_variant,,ENST00000531641,;EMSY,downstream_gene_variant,,ENST00000534573,;	C	ENST00000524767	Transcript	synonymous_variant	3231/4116	3192/4014	1064/1337	V	gtG/gtC		1		1	EMSY	HGNC	HGNC:18071	protein_coding	YES	CCDS73349.1	ENSP00000433205	Q7Z589		UPI000191704B	NM_001300942.1			19/21		hmmpanther:PTHR16500,hmmpanther:PTHR16500:SF3																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	61	76544696	76544696	G	C	1	0	0	0	0	0	0	0	1	4948	1277	45	4		4	EMSY	11	76544696	Silent	SNP	G	C3N-00579_TP	9092772	76544696	58541926	40	19429											
C11orf88	0	.	GRCh38	chr11	111533781	111533781	+	Frame_Shift_Del	DEL	A	A	-																															gagattctccaactcttaagAaaacaaagagaagaaaggat																								novel		C3N-00579_TP	C3N-00579_NB	A	A																c.459delA	p.Lys153AsnfsTer11	p.K153Nfs*11	ENST00000332814	5/7	58	53	5	76	76	0	sindel-varindel-pindel	C11orf88,frameshift_variant,p.Lys153AsnfsTer11,ENST00000529167,;C11orf88,frameshift_variant,p.Lys153AsnfsTer11,ENST00000332814,NM_207430.2;C11orf88,frameshift_variant,p.Lys126AsnfsTer11,ENST00000375618,NM_001100388.1;C11orf88,3_prime_UTR_variant,,ENST00000529661,;	-	ENST00000332814	Transcript	frameshift_variant	456/795	456/591	152/196	R/X	agA/ag		1		1	C11orf88	HGNC	HGNC:25061	protein_coding	YES	CCDS41712.1	ENSP00000333845	Q6PI97		UPI00001D7746	NM_207430.2			5/7		hmmpanther:PTHR16213,hmmpanther:PTHR16213:SF61																	HIGH	1	deletion	5	3		1										PASS		.	.												-	7	5	61	111533781	111533781	A	-	1	0	1	0	1	0	0	0	0	1800	243	9	0		0	C11orf88	11	111533781	Frame_Shift_Del	DEL	A	C3N-00579_TP	34989085	111533781	23552841	41	19430											
OR10G7	0	.	GRCh38	chr11	124038263	124038263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggccaaagaagcaaaggaCcacgatacagtgggaggcac	16	2	14	9	1	0	1	0	0	0	1	0	4	0	3	2	4	2	2	2	4	4	1	novel		C3N-00579_TP	C3N-00579_NB	C	C																c.739G>A	p.Val247Ile	p.V247I	ENST00000330487	1/1	176	151	25	120	120	0	strelka-varscan-mutect	OR10G7,missense_variant,p.Val247Ile,ENST00000330487,NM_001004463.1;	T	ENST00000330487	Transcript	missense_variant	748/945	739/936	247/311	V/I	Gtc/Atc		1		-1	OR10G7	HGNC	HGNC:14842	protein_coding	YES	CCDS31705.1	ENSP00000329689	Q8NGN6	A0A126GWF3	UPI0000040A84	NM_001004463.1	tolerated(0.43)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	61	124038263	124038263	C	T	1	0	0	0	0	1	0	0	0	10979	507	18	3		3	OR10G7	11	124038263	Missense_Mutation	SNP	C	C3N-00579_TP	12504482	124038263	11048359	42	19431											
GALNT8	0	.	GRCh38	chr12	4720692	4720692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagaagatgatgttttggagGaaactccccaaagccctctt	13	10	9	9	0	1	3	0	1	1	2	2	5	2	5	3	2	2	1	3	2	4	3	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.15G>A	p.=	p.R5R	ENST00000252318	1/11	327	302	25	183	182	1	strelka-varscan-mutect	GALNT8,synonymous_variant,p.=,ENST00000252318,NM_017417.1;RP11-234B24.2,upstream_gene_variant,,ENST00000527518,;RP11-234B24.6,intron_variant,,ENST00000543979,;RP11-234B24.6,intron_variant,,ENST00000544741,;	A	ENST00000252318	Transcript	synonymous_variant	352/2380	15/1914	5/637	R	agG/agA		1		1	GALNT8	HGNC	HGNC:4130	protein_coding	YES	CCDS8533.1	ENSP00000252318	Q9NY28		UPI0000070DEC	NM_017417.1			1/11		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF50																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	61	4720692	4720692	G	A	1	0	0	0	0	0	0	0	1	6090	1165	41	3		3	GALNT8	12	4720692	Silent	SNP	G	C3N-00579_TP		4720692	128554617	43	19432											
SLCO1C1	0	.	GRCh38	chr12	20717183	20717183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatctttggtttcctgttagGctcattatgtgccaaactat	9	17	7	8	0	2	0	1	0	1	0	3	0	3	0	2	2	2	3	2	2	5	5	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.728G>A	p.Gly243Asp	p.G243D	ENST00000545604	8/16	208	184	24	216	216	0	strelka-varscan-mutect	SLCO1C1,missense_variant,p.Gly243Asp,ENST00000266509,NM_017435.4;SLCO1C1,missense_variant,p.Gly125Asp,ENST00000545102,NM_001145944.1;SLCO1C1,missense_variant,p.Gly243Asp,ENST00000545604,NM_001145946.1;SLCO1C1,missense_variant,p.Gly194Asp,ENST00000540354,NM_001145945.1;SLCO1C1,3_prime_UTR_variant,,ENST00000539415,;	A	ENST00000545604	Transcript	missense_variant	958/2557	728/2193	243/730	G/D	gGc/gAc		1		1	SLCO1C1	HGNC	HGNC:13819	protein_coding	YES	CCDS53757.1	ENSP00000444149	Q9NYB5		UPI00004C3E1B	NM_001145946.1	deleterious(0)		8/16		hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF99,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		rs1418759177	.												A	3	1	61	20717183	20717183	G	A	1	0	0	0	0	1	0	0	0	15012	1203	42	3		3	SLCO1C1	12	20717183	Missense_Mutation	SNP	G	C3N-00579_TP	15996491	20717183	112558126	44	19433											
ELK3	0	.	GRCh38	chr12	96247240	96247240	+	Frame_Shift_Del	DEL	C	C	-																															cggagaagctggaggagccgCccgaagacagcccccccgtg																								novel		C3N-00579_TP	C3N-00579_NB	C	C																c.510delC	p.Glu171LysfsTer12	p.E171Kfs*12	ENST00000228741	3/5	544	434	110	531	531	0	sindel-varindel-pindel	ELK3,frameshift_variant,p.Glu171LysfsTer12,ENST00000228741,NM_005230.3;ELK3,intron_variant,,ENST00000552142,;ELK3,downstream_gene_variant,,ENST00000547860,;ELK3,frameshift_variant,p.Glu39LysfsTer12,ENST00000549985,;	-	ENST00000228741	Transcript	frameshift_variant	834/4205	508/1224	170/407	P/X	Ccc/cc		1		1	ELK3	HGNC	HGNC:3325	protein_coding	YES	CCDS9060.1	ENSP00000228741	P41970	A0A024RBE2	UPI0000000E09	NM_005230.3			3/5		hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF172,Low_complexity_(Seg):seg																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	61	96247240	96247240	C	-	1	0	1	0	1	0	0	0	0	4894	739	26	0		0	ELK3	12	96247240	Frame_Shift_Del	DEL	C	C3N-00579_TP	75530057	96247240	37028069	45	19434											
RB1	0	.	GRCh38	chr13	48465249	48465249	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacattcctcgaagcccttaCaagtttcctagttcaccctt	9	13	4	15	1	1	0	1	0	0	0	4	1	3	0	4	0	2	2	4	0	4	6	rs794727372		C3N-00579_TP	C3N-00579_NB	C	C																c.2370C>G	p.Tyr790Ter	p.Y790*	ENST00000267163	23/27	308	235	73	224	224	0	strelka-varscan-mutect	RB1,stop_gained,p.Tyr790Ter,ENST00000267163,NM_000321.2;	G	ENST00000267163	Transcript	stop_gained	2508/4840	2370/2787	790/928	Y/*	taC/taG	rs794727372,CM011479,CM034906,COSM3733248,COSM3733249	1		1	RB1	HGNC	HGNC:9884	protein_coding	YES	CCDS31973.1	ENSP00000267163	P06400	A0A024RDV3	UPI0000001C79	NM_000321.2			23/27		Pfam_domain:PF08934,hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF21,SMART_domains:SM01369										pathogenic	0,0,0,1,1						HIGH	1	SNV	1		1,1,1,1,1	1										PASS		rs794727372	.												G	4	3	61	48465249	48465249	C	G	1	0	0	0	0	0	1	0	0	13259	489	17	4		4	RB1	13	48465249	Nonsense_Mutation	SNP	C	C3N-00579_TP		48465249	65899079	46	19435											
MDGA2	0	.	GRCh38	chr14	47144234	47144234	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaattgttctttagcttcAcctatactttgatgaacagt	12	17	5	7	0	2	2	1	2	1	0	2	2	2	2	1	0	3	2	1	0	6	9	novel		C3N-00579_TP	C3N-00579_NB	A	A																c.429T>C	p.=	p.G143G	ENST00000399232	4/17	154	108	46	115	115	0	strelka-varscan-mutect	MDGA2,synonymous_variant,p.=,ENST00000426342,;MDGA2,synonymous_variant,p.=,ENST00000399232,NM_001113498.2;MDGA2,5_prime_UTR_variant,,ENST00000357362,NM_182830.4;MDGA2,5_prime_UTR_variant,,ENST00000557238,;MDGA2,5_prime_UTR_variant,,ENST00000482848,;	G	ENST00000399232	Transcript	synonymous_variant	794/5075	429/2871	143/956	G	ggT/ggC		1		-1	MDGA2	HGNC	HGNC:19835	protein_coding	YES	CCDS45098.3	ENSP00000382178	Q7Z553		UPI00001C14FF	NM_001113498.2			4/17		PROSITE_profiles:PS50835,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF62																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	61	47144234	47144234	A	G	1	0	0	0	0	0	0	0	1	9345	146	6	5		5	MDGA2	14	47144234	Silent	SNP	A	C3N-00579_TP		47144234	59899484	47	19436											
NUMB	0	.	GRCh38	chr14	73284173	73284173	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgtttaaagggtgacatcTtctggctaagagcaggaaaa	13	9	13	6	1	2	2	0	1	2	1	2	3	2	3	0	4	1	3	0	4	5	4	novel		C3N-00579_TP	C3N-00579_NB	T	T																c.857A>G	p.Lys286Arg	p.K286R	ENST00000555238	10/13	596	445	151	442	442	0	strelka-varscan-mutect	NUMB,missense_variant,p.Lys142Arg,ENST00000556772,;NUMB,missense_variant,p.Lys275Arg,ENST00000554546,NM_001005745.1;NUMB,missense_variant,p.Lys286Arg,ENST00000555238,NM_001005743.1;NUMB,missense_variant,p.Lys275Arg,ENST00000557597,NM_003744.5;NUMB,missense_variant,p.Lys286Arg,ENST00000356296,NM_001320114.1;NUMB,missense_variant,p.Lys286Arg,ENST00000355058,;NUMB,missense_variant,p.Lys275Arg,ENST00000359560,;NUMB,missense_variant,p.Lys286Arg,ENST00000535282,;NUMB,missense_variant,p.Lys286Arg,ENST00000555394,NM_001005744.1;NUMB,intron_variant,,ENST00000544991,;NUMB,intron_variant,,ENST00000560335,;NUMB,intron_variant,,ENST00000555738,;NUMB,intron_variant,,ENST00000559312,;NUMB,intron_variant,,ENST00000554521,;NUMB,downstream_gene_variant,,ENST00000555307,;NUMB,downstream_gene_variant,,ENST00000554394,;NUMB,downstream_gene_variant,,ENST00000555859,;NUMB,non_coding_transcript_exon_variant,,ENST00000553997,;NUMB,non_coding_transcript_exon_variant,,ENST00000554014,;NUMB,non_coding_transcript_exon_variant,,ENST00000557486,;NUMB,downstream_gene_variant,,ENST00000556989,;NUMB,downstream_gene_variant,,ENST00000554315,;	C	ENST00000555238	Transcript	missense_variant	1127/3588	857/1956	286/651	K/R	aAg/aGg		1		-1	NUMB	HGNC	HGNC:8060	protein_coding	YES	CCDS32116.1	ENSP00000451300	P49757	A0A024R6F4	UPI00001309BF	NM_001005743.1	tolerated(0.06)		10/13		hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF33,Pfam_domain:PF06311,PIRSF_domain:PIRSF017607																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	61	73284173	73284173	T	C	1	0	0	0	0	1	0	0	0	10816	1609	56	5		5	NUMB	14	73284173	Missense_Mutation	SNP	T	C3N-00579_TP	26139939	73284173	33759545	48	19437											
TECPR2	0	.	GRCh38	chr14	102438126	102438126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactacaaaggcggcctgttCtgcagcgcgttgccgggcgc	6	7	15	13	5	1	0	0	0	1	0	1	1	1	0	2	3	4	3	2	3	2	3	rs539429220		C3N-00579_TP	C3N-00579_NB	C	C																c.2499C>G	p.Phe833Leu	p.F833L	ENST00000359520	10/20	294	268	26	280	280	0	strelka-varscan-mutect	TECPR2,missense_variant,p.Phe833Leu,ENST00000359520,NM_014844.3;TECPR2,missense_variant,p.Phe833Leu,ENST00000558678,NM_001172631.1;TECPR2,non_coding_transcript_exon_variant,,ENST00000560060,;TECPR2,upstream_gene_variant,,ENST00000557786,;	G	ENST00000359520	Transcript	missense_variant	2725/8686	2499/4236	833/1411	F/L	ttC/ttG	rs539429220	1		1	TECPR2	HGNC	HGNC:19957	protein_coding	YES	CCDS32162.1	ENSP00000352510	O15040		UPI00001FDC38	NM_014844.3	deleterious(0.01)		10/20		hmmpanther:PTHR23287,hmmpanther:PTHR23287:SF16																	MODERATE	1	SNV	1			1										PASS		rs539429220	.												G	3	3	61	102438126	102438126	C	G	1	0	0	0	0	1	0	0	0	16155	912	32	4		4	TECPR2	14	102438126	Missense_Mutation	SNP	C	C3N-00579_TP	29153953	102438126	4605592	49	19438											
OTUD7A	0	.	GRCh38	chr15	31483412	31483412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctcgcgctggcagcgcCgctgcaccggccccgggccg	3	5	15	18	7	1	0	0	0	1	0	2	0	1	0	5	3	2	5	5	3	0	1	novel		C3N-00579_TP	C3N-00579_NB	C	C																c.2663G>A	p.Arg888Gln	p.R888Q	ENST00000307050	11/11	63	54	9	46	46	0	strelka-varscan-mutect	OTUD7A,missense_variant,p.Arg888Gln,ENST00000307050,NM_130901.1;	T	ENST00000307050	Transcript	missense_variant	2756/10770	2663/2781	888/926	R/Q	cGg/cAg		1		-1	OTUD7A	HGNC	HGNC:20718	protein_coding	YES	CCDS10026.1	ENSP00000305926	Q8TE49		UPI0000073AA5	NM_130901.1	tolerated_low_confidence(0.28)		11/11		PROSITE_profiles:PS51036,hmmpanther:PTHR13367:SF9,hmmpanther:PTHR13367,SMART_domains:SM00259																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	61	31483412	31483412	C	T	1	0	0	0	0	1	0	0	0	11387	652	23	1		1	OTUD7A	15	31483412	Missense_Mutation	SNP	C	C3N-00579_TP		31483412	70507777	50	19439											
ANPEP	0	.	GRCh38	chr15	89790464	89790464	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatgacttcttacctgcTgcagctcatactcggtggag	8	11	12	10	1	2	1	1	1	1	0	3	3	2	3	1	3	5	3	1	3	3	3	novel		C3N-00579_TP	C3N-00579_NB	T	T																c.2747A>C	p.Gln916Pro	p.Q916P	ENST00000300060	20/21	212	137	75	215	215	0	strelka-varscan-mutect	ANPEP,missense_variant,p.Gln916Pro,ENST00000300060,NM_001150.2;ANPEP,downstream_gene_variant,,ENST00000558740,;	G	ENST00000300060	Transcript	missense_variant	3061/3678	2747/2904	916/967	Q/P	cAg/cCg		1		-1	ANPEP	HGNC	HGNC:500	protein_coding	YES	CCDS10356.1	ENSP00000300060	P15144	A0A024RC61	UPI00001AECCF	NM_001150.2	deleterious(0)		20/21		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF172,Pfam_domain:PF11838																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	61	89790464	89790464	T	G	1	0	0	0	0	1	0	0	0	817	1594	55	5		5	ANPEP	15	89790464	Missense_Mutation	SNP	T	C3N-00579_TP	58307052	89790464	12200725	51	19440											
ABCA3	0	.	GRCh38	chr16	2286968	2286968	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaactcctccaggtcacCtggggagcaatggcagagtc	11	6	12	12	0	1	2	1	0	0	2	4	3	3	3	3	4	2	2	3	4	3	0			C3N-00579_TP	C3N-00579_NB	C	C																c.3005-1G>A		p.X1002_splice	ENST00000301732		307	250	57	208	208	0	strelka-varscan-mutect	ABCA3,splice_acceptor_variant,,ENST00000301732,NM_001089.2;ABCA3,splice_acceptor_variant,,ENST00000382381,;ABCA3,downstream_gene_variant,,ENST00000563623,;ABCA3,upstream_gene_variant,,ENST00000566200,;ABCA3,upstream_gene_variant,,ENST00000569062,;	T	ENST00000301732	Transcript	splice_acceptor_variant	-/6609	3005/5115	1002/1704			CS066265	1		-1	ABCA3	HGNC	HGNC:33	protein_coding	YES	CCDS10466.1	ENSP00000301732	Q99758		UPI0000001232	NM_001089.2				21/32																		HIGH	1	SNV	1		1	1										PASS		.	.												T	5	4	61	2286968	2286968	C	T	1	0	0	0	0	0	0	1	0	37	695	24	3		3	ABCA3	16	2286968	Splice_Site	SNP	C	C3N-00579_TP		2286968	88051377	52	19441											
GRIN2A	0	.	GRCh38	chr16	9763752	9763752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtcctgctggtagacctgCtccccggtggctgggttacc	4	10	13	14	1	0	1	0	0	0	1	2	1	2	1	5	4	3	5	5	4	2	2	novel		C3N-00579_TP	C3N-00579_NB	C	C																c.3792G>A	p.=	p.E1264E	ENST00000396573	14/14	949	830	119	564	564	0	strelka-varscan-mutect	GRIN2A,synonymous_variant,p.=,ENST00000396573,NM_000833.4;GRIN2A,synonymous_variant,p.=,ENST00000396575,;GRIN2A,synonymous_variant,p.=,ENST00000330684,NM_001134407.2;GRIN2A,intron_variant,,ENST00000562109,NM_001134408.2;GRIN2A,intron_variant,,ENST00000535259,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000636273,;GRIN2A,intron_variant,,ENST00000461292,;GRIN2A,downstream_gene_variant,,ENST00000463531,;	T	ENST00000396573	Transcript	synonymous_variant	4102/14450	3792/4395	1264/1464	E	gaG/gaA		1		-1	GRIN2A	HGNC	HGNC:4585	protein_coding	YES	CCDS10539.1	ENSP00000379818	Q12879	Q547U9	UPI000000D7AB	NM_000833.4			14/14		Pfam_domain:PF10565																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	61	9763752	9763752	C	T	1	0	0	0	0	0	0	0	1	6661	796	28	3		3	GRIN2A	16	9763752	Silent	SNP	C	C3N-00579_TP	7476784	9763752	80574593	53	19442											
NFATC2IP	0	.	GRCh38	chr16	28959090	28959090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaccagacactggaagtctCactgtctcgagtgagtggga	11	8	12	10	1	2	2	1	1	2	1	4	5	2	4	1	2	0	0	1	2	1	0			C3N-00579_TP	C3N-00579_NB	C	C																c.1091C>T	p.Ser364Leu	p.S364L	ENST00000320805	7/8	173	160	13	107	107	0	strelka-varscan-mutect	NFATC2IP,missense_variant,p.Ser364Leu,ENST00000320805,NM_032815.3;NFATC2IP,missense_variant,p.Ser85Leu,ENST00000564978,;NFATC2IP,missense_variant,p.Ser72Leu,ENST00000568148,;NFATC2IP,downstream_gene_variant,,ENST00000578855,;RP11-264B17.2,intron_variant,,ENST00000569974,;RP11-264B17.2,upstream_gene_variant,,ENST00000568057,;NFATC2IP,downstream_gene_variant,,ENST00000562977,;NFATC2IP,downstream_gene_variant,,ENST00000568998,;	T	ENST00000320805	Transcript	missense_variant	1166/4569	1091/1260	364/419	S/L	tCa/tTa	COSM3724803	1		1	NFATC2IP	HGNC	HGNC:25906	protein_coding	YES	CCDS10645.1	ENSP00000324792	Q8NCF5		UPI00000316E2	NM_032815.3	tolerated(0.05)		7/8		Gene3D:3.10.20.90,Pfam_domain:PF11976,PROSITE_profiles:PS50053,hmmpanther:PTHR10562,hmmpanther:PTHR10562:SF28,SMART_domains:SM00213,Superfamily_domains:SSF54236											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	61	28959090	28959090	C	T	1	0	0	0	0	1	0	0	0	10400	838	29	3		3	NFATC2IP	16	28959090	Missense_Mutation	SNP	C	C3N-00579_TP	19195338	28959090	61379255	54	19443											
TP53	0	.	GRCh38	chr17	7674230	7674230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		C3N-00579_TP	C3N-00579_NB	C	C																c.733G>A	p.Gly245Ser	p.G245S	ENST00000269305	7/11	285	213	72	300	299	1	strelka-varscan-mutect	TP53,missense_variant,p.Gly245Ser,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Gly245Ser,ENST00000420246,;TP53,missense_variant,p.Gly206Ser,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Gly206Ser,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Gly245Ser,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Gly206Ser,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Gly245Ser,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Gly206Ser,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Gly245Ser,ENST00000445888,;TP53,missense_variant,p.Gly206Ser,ENST00000619485,;TP53,missense_variant,p.Gly113Ser,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Gly86Ser,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Gly113Ser,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Gly86Ser,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Gly113Ser,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Gly86Ser,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Gly245Ser,ENST00000359597,;TP53,missense_variant,p.Gly234Ser,ENST00000615910,;TP53,missense_variant,p.Gly245Ser,ENST00000413465,;TP53,missense_variant,p.Gly113Ser,ENST00000509690,;TP53,missense_variant,p.Gly152Ser,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Gly206Ser,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	T	ENST00000269305	Transcript	missense_variant	923/2579	733/1182	245/393	G/S	Ggc/Agc	rs28934575,CM010463,CM900210,CM920674,TP53_g.13370G>T,TP53_g.13370G>C,TP53_g.13370del,TP53_g.13370G>A,COSM10957,COSM11081,COSM121035,COSM121036,COSM121037,COSM1610835,COSM1610836,COSM1610837,COSM1640833,COSM1646855,COSM3356965,COSM3388190,COSM3717639,COSM3717640,COSM3726870,COSM3726871,COSM3726872,COSM3726873,COSM3726874,COSM44642,COSM562651,COSM562652,COSM562653,COSM6932	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										likely_pathogenic,pathogenic	0,0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	2.50327002510566e+23					MODERATE	1	SNV	1		1,1,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs28934575	.												T	3	4	61	7674230	7674230	C	T	1	0	0	0	0	1	0	0	0	16859	652	23	1		1	TP53	17	7674230	Missense_Mutation	SNP	C	C3N-00579_TP		7674230	75583211	55	19444											
USP43	0	.	GRCh38	chr17	9709960	9709960	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgggacctttgcagcctaCtgccggaactctctggatgg	7	10	13	11	1	1	0	0	0	1	0	2	4	1	3	3	4	5	1	3	4	2	2	novel		C3N-00579_TP	C3N-00579_NB	C	C																c.2016C>A	p.Tyr672Ter	p.Y672*	ENST00000285199	13/15	39	35	4	25	25	0	strelka-mutect	USP43,stop_gained,p.Tyr672Ter,ENST00000285199,NM_153210.4;USP43,stop_gained,p.Tyr667Ter,ENST00000570475,NM_001267576.1;USP43,stop_gained,p.Tyr459Ter,ENST00000574408,;USP43,stop_gained,p.Tyr197Ter,ENST00000573955,;USP43,non_coding_transcript_exon_variant,,ENST00000570827,;	A	ENST00000285199	Transcript	stop_gained	2112/4169	2016/3372	672/1123	Y/*	taC/taA		1		1	USP43	HGNC	HGNC:20072	protein_coding	YES	CCDS45610.1	ENSP00000285199	Q70EL4		UPI0000047AFB	NM_153210.4			13/15		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF462,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	61	9709960	9709960	C	A	1	0	0	0	0	0	1	0	0	17617	579	20	2		2	USP43	17	9709960	Nonsense_Mutation	SNP	C	C3N-00579_TP	2035730	9709960	73547481	56	19445											
FAM171A2	0	.	GRCh38	chr17	44355132	44355132	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtctcgtttgttaccgTcagagggccccgagagctgc	5	10	13	13	3	2	2	1	0	1	2	3	3	2	2	4	2	3	3	4	2	1	2	novel		C3N-00579_TP	C3N-00579_NB	T	T																c.1082A>G	p.Asp361Gly	p.D361G	ENST00000293443	8/8	250	214	36	250	250	0	strelka-varscan-mutect	FAM171A2,missense_variant,p.Asp361Gly,ENST00000293443,NM_198475.2;GRN,downstream_gene_variant,,ENST00000053867,NM_002087.3;GRN,downstream_gene_variant,,ENST00000589265,;GRN,downstream_gene_variant,,ENST00000586443,;GRN,downstream_gene_variant,,ENST00000593167,;GRN,downstream_gene_variant,,ENST00000586242,;GRN,downstream_gene_variant,,ENST00000587387,;GRN,downstream_gene_variant,,ENST00000591740,;GRN,downstream_gene_variant,,ENST00000588237,;GRN,downstream_gene_variant,,ENST00000588143,;GRN,downstream_gene_variant,,ENST00000592783,;GRN,downstream_gene_variant,,ENST00000587518,;GRN,downstream_gene_variant,,ENST00000589923,;FAM171A2,downstream_gene_variant,,ENST00000589407,;FAM171A2,downstream_gene_variant,,ENST00000588067,;GRN,downstream_gene_variant,,ENST00000586782,;FAM171A2,downstream_gene_variant,,ENST00000592560,;GRN,downstream_gene_variant,,ENST00000585348,;GRN,downstream_gene_variant,,ENST00000590984,;	C	ENST00000293443	Transcript	missense_variant	1243/3160	1082/2481	361/826	D/G	gAc/gGc		1		-1	FAM171A2	HGNC	HGNC:30480	protein_coding	YES	CCDS45701.1	ENSP00000293443	A8MVW0		UPI0000E59FC0	NM_198475.2	deleterious(0.02)		8/8		Pfam_domain:PF10577,hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	61	44355132	44355132	T	C	1	0	0	0	0	1	0	0	0	5338	1667	58	5		5	FAM171A2	17	44355132	Missense_Mutation	SNP	T	C3N-00579_TP	34645172	44355132	38902309	57	19446											
TMEM94	0	.	GRCh38	chr17	75485978	75485978	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgggctgctgCgggggacagccagccgggag	4	6	19	12	2	0	0	0	0	0	0	0	2	0	2	2	4	7	5	2	4	0	0	rs543706878		C3N-00579_TP	C3N-00579_NB	C	C																c.252C>A	p.Cys84Ter	p.C84*	ENST00000314256	4/32	80	63	17	66	66	0	strelka-varscan-mutect	TMEM94,stop_gained,p.Cys84Ter,ENST00000314256,NM_001321149.1,NM_014738.4;TMEM94,stop_gained,p.Cys94Ter,ENST00000375248,;TMEM94,stop_gained,p.Cys12Ter,ENST00000582186,;TMEM94,stop_gained,p.Cys84Ter,ENST00000577380,;TMEM94,stop_gained,p.Cys84Ter,ENST00000581519,;TMEM94,intron_variant,,ENST00000579208,;TMEM94,intron_variant,,ENST00000581252,;TMEM94,downstream_gene_variant,,ENST00000582455,;TMEM94,intron_variant,,ENST00000580416,;TMEM94,upstream_gene_variant,,ENST00000583795,;TMEM94,stop_gained,p.Cys94Ter,ENST00000579707,;TMEM94,non_coding_transcript_exon_variant,,ENST00000585105,;TMEM94,non_coding_transcript_exon_variant,,ENST00000581085,;TMEM94,non_coding_transcript_exon_variant,,ENST00000584383,;TMEM94,upstream_gene_variant,,ENST00000579241,;TMEM94,downstream_gene_variant,,ENST00000585277,;TMEM94,upstream_gene_variant,,ENST00000580441,;TMEM94,upstream_gene_variant,,ENST00000580849,;	A	ENST00000314256	Transcript	stop_gained	646/5213	252/4071	84/1356	C/*	tgC/tgA	rs543706878	1		1	TMEM94	HGNC	HGNC:28983	protein_coding	YES	CCDS32732.1	ENSP00000313885	Q12767	A0A024R8S6	UPI0000139439	NM_001321149.1,NM_014738.4			4/32		Transmembrane_helices:TMhelix,hmmpanther:PTHR13219,hmmpanther:PTHR13219:SF6,Superfamily_domains:0049473																	HIGH	1	SNV	1			1										PASS		rs543706878	.												A	4	1	61	75485978	75485978	C	A	1	0	0	0	0	0	1	0	0	16697	776	27	1		1	TMEM94	17	75485978	Nonsense_Mutation	SNP	C	C3N-00579_TP	31130846	75485978	7771463	58	19447											
TMC6	0	.	GRCh38	chr17	78120679	78120679	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagttccccaaaaagcgtGtccagcaacatgaggacgaa	15	5	9	12	2	0	1	0	1	0	0	2	3	2	2	4	1	3	2	4	1	4	1	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.1689C>T	p.=	p.D563D	ENST00000590602	13/20	614	512	102	485	485	0	strelka-varscan-mutect	TMC6,synonymous_variant,p.=,ENST00000590602,NM_001127198.1;TMC6,synonymous_variant,p.=,ENST00000392467,;TMC6,synonymous_variant,p.=,ENST00000322914,NM_007267.6;TMC6,3_prime_UTR_variant,,ENST00000589553,;TMC6,intron_variant,,ENST00000306591,;TMC6,intron_variant,,ENST00000591436,;TMC6,downstream_gene_variant,,ENST00000589271,;TMC6,downstream_gene_variant,,ENST00000592063,;TMC6,non_coding_transcript_exon_variant,,ENST00000590934,;TMC6,intron_variant,,ENST00000592076,;TMC6,non_coding_transcript_exon_variant,,ENST00000593044,;TMC6,non_coding_transcript_exon_variant,,ENST00000588087,;TMC6,non_coding_transcript_exon_variant,,ENST00000591756,;TMC6,downstream_gene_variant,,ENST00000586271,;TMC6,downstream_gene_variant,,ENST00000591594,;TMC6,upstream_gene_variant,,ENST00000589933,;TMC6,downstream_gene_variant,,ENST00000585849,;	A	ENST00000590602	Transcript	synonymous_variant	1849/5268	1689/2418	563/805	D	gaC/gaT		1		-1	TMC6	HGNC	HGNC:18021	protein_coding	YES	CCDS32748.1	ENSP00000465261	Q7Z403	A0A024R8V2	UPI000013D819	NM_001127198.1			13/20		Transmembrane_helices:TMhelix,hmmpanther:PTHR23302:SF4,hmmpanther:PTHR23302,Pfam_domain:PF07810																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	61	78120679	78120679	G	A	1	0	0	0	0	0	0	0	1	16435	1368	48	3		3	TMC6	17	78120679	Silent	SNP	G	C3N-00579_TP	2634701	78120679	5136762	59	19448											
MUC16	0	.	GRCh38	chr19	8947108	8947108	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctgtgattgaggtggTctcttcagaggtgctagtct	5	17	13	6	0	4	3	1	2	3	1	5	3	4	3	0	3	1	2	0	3	1	4	novel		C3N-00579_TP	C3N-00579_NB	T	T																c.29662A>G	p.Thr9888Ala	p.T9888A	ENST00000397910	3/84	175	148	27	101	101	0	strelka-varscan-mutect	MUC16,missense_variant,p.Thr9888Ala,ENST00000397910,NM_024690.2;	C	ENST00000397910	Transcript	missense_variant	29866/43816	29662/43524	9888/14507	T/A	Acc/Gcc		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	61	8947108	8947108	T	C	1	0	0	0	0	1	0	0	0	9972	1667	58	5		5	MUC16	19	8947108	Missense_Mutation	SNP	T	C3N-00579_TP		8947108	49670508	60	19449											
NR2C2AP	0	.	GRCh38	chr19	19201475	19201475	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagtgcatttttacaaactTaggggaagttgaggttcctg	12	13	11	5	0	0	1	0	1	0	0	1	2	1	2	1	3	3	3	1	3	5	6	rs187406875		C3N-00579_TP	C3N-00579_NB	T	T																c.503A>T	p.Ter168LeuextTer8	p.*168Lext*8	ENST00000420605	6/6	369	295	74	313	313	0	strelka-varscan-mutect	NR2C2AP,stop_lost,p.Ter168LeuextTer8,ENST00000420605,NM_001300945.1;NR2C2AP,3_prime_UTR_variant,,ENST00000331552,NM_176880.5;RFXANK,intron_variant,,ENST00000303088,NM_003721.3;RFXANK,intron_variant,,ENST00000456252,NM_001278727.1;RFXANK,intron_variant,,ENST00000407360,;RFXANK,intron_variant,,ENST00000392324,NM_134440.2,NM_001278728.1;RFXANK,intron_variant,,ENST00000536253,;RFXANK,intron_variant,,ENST00000544923,;NR2C2AP,downstream_gene_variant,,ENST00000544883,;NR2C2AP,downstream_gene_variant,,ENST00000538165,;RFXANK,downstream_gene_variant,,ENST00000593273,;RFXANK,downstream_gene_variant,,ENST00000421262,;RFXANK,downstream_gene_variant,,ENST00000540981,;RFXANK,downstream_gene_variant,,ENST00000535017,;NR2C2AP,downstream_gene_variant,,ENST00000539678,;NR2C2AP,non_coding_transcript_exon_variant,,ENST00000537399,;RFXANK,intron_variant,,ENST00000540977,;RFXANK,downstream_gene_variant,,ENST00000541873,;NR2C2AP,downstream_gene_variant,,ENST00000539693,;RFXANK,downstream_gene_variant,,ENST00000543157,;RFXANK,downstream_gene_variant,,ENST00000545522,;RFXANK,downstream_gene_variant,,ENST00000543118,;	A	ENST00000420605	Transcript	stop_lost	800/859	503/504	168/167	*/L	tAa/tTa	rs187406875	1		-1	NR2C2AP	HGNC	HGNC:30763	protein_coding	YES	CCDS74316.1	ENSP00000402756	Q86WQ0		UPI0000203824	NM_001300945.1			6/6																			HIGH		SNV	2			1										PASS		rs187406875	.												A	4	1	61	19201475	19201475	T	A	1	0	0	0	0	0	0	0	0	10680	1761	61	4		4	NR2C2AP	19	19201475	Nonstop_Mutation	SNP	T	C3N-00579_TP	10254367	19201475	39416141	61	19450											
CEACAM20	0	.	GRCh38	chr19	44511133	44511133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaaagaattgcctctaCggcttgctgaaggcagcttc	9	10	12	10	1	1	3	0	2	1	1	2	3	1	3	1	3	4	5	1	3	4	4	rs372851437		C3N-00579_TP	C3N-00579_NB	C	C																c.1634G>A	p.Arg545His	p.R545H	ENST00000614924	11/12	159	122	37	117	117	0	strelka-varscan-mutect	CEACAM20,missense_variant,p.Arg545His,ENST00000621342,;CEACAM20,missense_variant,p.Arg545His,ENST00000617951,;CEACAM20,missense_variant,p.Arg545His,ENST00000614924,NM_001102597.2;CEACAM20,missense_variant,p.Arg533His,ENST00000611497,NM_001102600.2;CEACAM20,missense_variant,p.Arg452His,ENST00000614577,NM_001102599.2;CEACAM20,missense_variant,p.Arg440His,ENST00000620096,NM_001102598.2;	T	ENST00000614924	Transcript	missense_variant	1650/1809	1634/1791	545/596	R/H	cGt/cAt	rs372851437,COSM50870	1		-1	CEACAM20	HGNC	HGNC:24879	protein_coding	YES	CCDS74393.1	ENSP00000481937		A0A087WYM6	UPI0003EC04B5	NM_001102597.2	tolerated(0.29)		11/12													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs372851437	.												T	3	4	61	44511133	44511133	C	T	1	0	0	0	0	1	0	0	0	2897	536	19	1		1	CEACAM20	19	44511133	Missense_Mutation	SNP	C	C3N-00579_TP	25309658	44511133	14106483	62	19451											
IGLON5	0	.	GRCh38	chr19	51327102	51327102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccgaccatcacggacgtGaccagcgcccgcaccgcgct	7	4	10	20	7	1	1	1	1	0	0	2	3	2	2	6	1	1	2	6	1	0	0	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.669G>A	p.=	p.V223V	ENST00000270642	6/8	111	85	26	88	87	1	strelka-varscan-mutect	IGLON5,synonymous_variant,p.=,ENST00000270642,NM_001101372.1;VSIG10L,downstream_gene_variant,,ENST00000335624,NM_001163922.1;VSIG10L,downstream_gene_variant,,ENST00000600663,;	A	ENST00000270642	Transcript	synonymous_variant	669/2606	669/1011	223/336	V	gtG/gtA		1		1	IGLON5	HGNC	HGNC:34550	protein_coding	YES	CCDS46158.1	ENSP00000270642	A6NGN9		UPI000058F1A8	NM_001101372.1			6/8		Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF148,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	61	51327102	51327102	G	A	1	0	0	0	0	0	0	0	1	7502	1277	45	3		3	IGLON5	19	51327102	Silent	SNP	G	C3N-00579_TP	6815969	51327102	7290514	63	19452											
SLC13A3	0	.	GRCh38	chr20	46566298	46566298	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaactcagtgaagaaggcGatgaccacagtgatgagcag	15	5	13	8	1	1	5	1	4	0	1	1	6	1	5	1	1	2	2	1	1	3	0	rs147641404		C3N-00579_TP	C3N-00579_NB	G	G																c.1425C>T	p.=	p.I475I	ENST00000279027	11/13	221	179	42	195	194	1	strelka-varscan-mutect	SLC13A3,synonymous_variant,p.=,ENST00000279027,NM_022829.5;SLC13A3,synonymous_variant,p.=,ENST00000290317,NM_001193342.1,NM_001011554.2;SLC13A3,synonymous_variant,p.=,ENST00000472148,NM_001193340.1;SLC13A3,synonymous_variant,p.=,ENST00000413164,NM_001193339.1;SLC13A3,synonymous_variant,p.=,ENST00000495082,;SLC13A3,downstream_gene_variant,,ENST00000468915,;	A	ENST00000279027	Transcript	synonymous_variant	1444/4017	1425/1809	475/602	I	atC/atT	rs147641404,COSM1412200	1		-1	SLC13A3	HGNC	HGNC:14430	protein_coding	YES	CCDS13400.1	ENSP00000279027	Q8WWT9		UPI000013542F	NM_022829.5			11/13		Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF62,Transmembrane_helices:TMhelix											0,1						LOW	1	SNV	1		0,1	1										PASS		rs147641404	.												A	2	1	61	46566298	46566298	G	A	1	0	0	0	0	0	0	0	1	14658	1048	37	1		1	SLC13A3	20	46566298	Silent	SNP	G	C3N-00579_TP		46566298	17877869	64	19453											
CDH26	0	.	GRCh38	chr20	59989041	59989041	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccactgtgagtgtgcaggtGacagacgccaacgacccacc	10	5	12	14	2	0	3	0	2	0	1	0	4	0	3	4	1	2	1	4	1	1	0	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.1161G>C	p.=	p.V387V	ENST00000348616	9/18	1132	980	152	497	497	0	strelka-varscan-mutect	CDH26,synonymous_variant,p.=,ENST00000348616,NM_177980.2;CDH26,upstream_gene_variant,,ENST00000370991,;CDH26,non_coding_transcript_exon_variant,,ENST00000477058,;	C	ENST00000348616	Transcript	synonymous_variant	1461/3182	1161/2499	387/832	V	gtG/gtC		1		1	CDH26	HGNC	HGNC:15902	protein_coding	YES	CCDS13485.1	ENSP00000339390	Q8IXH8		UPI000013CB55	NM_177980.2			9/18		Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF78,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	61	59989041	59989041	G	C	1	0	0	0	0	0	0	0	1	2813	1277	45	4		4	CDH26	20	59989041	Silent	SNP	G	C3N-00579_TP	13422743	59989041	4455126	65	19454											
MICAL3	0	.	GRCh38	chr22	17896762	17896762	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccagagccactagtaactGgtgtccgttctgctcccgca	8	9	10	14	2	1	1	0	0	1	1	3	2	3	1	4	1	3	4	4	1	2	3	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.1168C>T	p.Gln390Ter	p.Q390*	ENST00000441493	8/32	203	188	15	154	154	0	strelka-varscan-mutect	MICAL3,stop_gained,p.Gln390Ter,ENST00000441493,NM_015241.2;MICAL3,stop_gained,p.Gln390Ter,ENST00000414725,;MICAL3,stop_gained,p.Gln390Ter,ENST00000585038,NM_001136004.3;MICAL3,stop_gained,p.Gln390Ter,ENST00000400561,NM_001122731.2;MICAL3,stop_gained,p.Gln390Ter,ENST00000383094,;MICAL3,upstream_gene_variant,,ENST00000461307,;MICAL3,3_prime_UTR_variant,,ENST00000495076,;	A	ENST00000441493	Transcript	stop_gained	1521/9445	1168/6009	390/2002	Q/*	Cag/Tag		1		-1	MICAL3	HGNC	HGNC:24694	protein_coding	YES	CCDS46659.1	ENSP00000416015	Q7RTP6		UPI0001823FDE	NM_015241.2			8/32		Superfamily_domains:SSF51905,Superfamily_domains:SSF47576																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	61	17896762	17896762	G	A	1	0	0	0	0	0	1	0	0	9528	1357	47	3		3	MICAL3	22	17896762	Nonsense_Mutation	SNP	G	C3N-00579_TP		17896762	32921706	66	19455											
PPARA	0	.	GRCh38	chr22	46215334	46215334	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgcgtgtgaaggctgcaagGtagaggggagctggaacagg	11	5	19	6	2	0	2	0	1	0	1	0	4	0	4	0	6	3	4	0	6	4	1	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.369+1G>A		p.X123_splice	ENST00000407236		495	385	110	451	451	0	strelka-varscan-mutect	PPARA,splice_donor_variant,,ENST00000407236,;PPARA,splice_donor_variant,,ENST00000262735,NM_005036.4,NM_001001928.2;PPARA,splice_donor_variant,,ENST00000402126,;PPARA,missense_variant,p.Val124Ile,ENST00000420804,;PPARA,splice_donor_variant,,ENST00000493286,;	A	ENST00000407236	Transcript	splice_donor_variant	-/9995	369/1407	123/468				1		1	PPARA	HGNC	HGNC:9232	protein_coding	YES	CCDS33669.1	ENSP00000385523	Q07869	F1D8S4	UPI000000D8E0					4/7																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	61	46215334	46215334	G	A	1	0	0	0	0	0	0	1	0	12406	1275	44	3		3	PPARA	22	46215334	Splice_Site	SNP	G	C3N-00579_TP	28318572	46215334	4603134	67	19456											
HCCS	0	.	GRCh38	chrX	11114923	11114923	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaacgcgcctatgagtaCgtggagtgtcccattagggg	9	8	15	9	3	0	1	0	1	0	0	1	3	1	3	2	4	2	1	2	4	4	3	rs138058070		C3N-00579_TP	C3N-00579_NB	C	C																c.189C>T	p.=	p.Y63Y	ENST00000321143	3/7	383	311	72	166	166	0	strelka-varscan-mutect	HCCS,synonymous_variant,p.=,ENST00000321143,NM_005333.4,NM_001122608.2,NM_001171991.2;HCCS,synonymous_variant,p.=,ENST00000380762,;HCCS,synonymous_variant,p.=,ENST00000380763,;RP11-120D5.1,upstream_gene_variant,,ENST00000608176,;RP11-120D5.1,upstream_gene_variant,,ENST00000608576,;RP11-120D5.1,upstream_gene_variant,,ENST00000433747,;RP11-120D5.1,upstream_gene_variant,,ENST00000608916,;Y_RNA,downstream_gene_variant,,ENST00000384422,;	T	ENST00000321143	Transcript	synonymous_variant	391/2277	189/807	63/268	Y	taC/taT	rs138058070,COSM3939745	1		1	HCCS	HGNC	HGNC:4837	protein_coding	YES	CCDS14139.1	ENSP00000326579	P53701	A0A024RBY9	UPI00001272B7	NM_005333.4,NM_001122608.2,NM_001171991.2			3/7		Pfam_domain:PF01265,hmmpanther:PTHR12743,hmmpanther:PTHR12743:SF0											0,1						LOW	1	SNV	2		0,1	1										PASS		rs138058070	.												T	2	4	61	11114923	11114923	C	T	1	0	0	0	0	0	0	0	1	6878	547	19	1		1	HCCS	23	11114923	Silent	SNP	C	C3N-00579_TP		11114923	144925972	68	19457											
CYLC1	0	.	GRCh38	chrX	83873127	83873127	+	Frame_Shift_Del	DEL	C	C	-																															aaaaggaggttcatatgcaaCaaatccagaatccaagcaaa																								novel		C3N-00579_TP	C3N-00579_NB	C	C																c.419delC	p.Thr140LysfsTer8	p.T140Kfs*8	ENST00000329312	4/5	48	39	9	41	41	0	sindel-varindel-pindel	CYLC1,frameshift_variant,p.Thr140LysfsTer8,ENST00000329312,NM_021118.2;CYLC1,intron_variant,,ENST00000621735,NM_001271680.1;	-	ENST00000329312	Transcript	frameshift_variant	456/2106	419/1956	140/651	T/X	aCa/aa		1		1	CYLC1	HGNC	HGNC:2582	protein_coding	YES	CCDS35341.1	ENSP00000331556	P35663		UPI0000251E1D	NM_021118.2			4/5		hmmpanther:PTHR16742,hmmpanther:PTHR16742:SF1																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	61	83873127	83873127	C	-	1	0	1	0	1	0	0	0	0	3944	478	17	0		0	CYLC1	23	83873127	Frame_Shift_Del	DEL	C	C3N-00579_TP	72758204	83873127	72167768	69	19458											
PRPS1	0	.	GRCh38	chrX	107647631	107647631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcagctggcgccaccagaGtttatgccatcttgactcat	8	12	8	13	1	3	2	2	1	2	1	4	2	3	2	3	1	2	2	3	1	1	3	novel		C3N-00579_TP	C3N-00579_NB	G	G																c.730G>A	p.Val244Ile	p.V244I	ENST00000372435	6/7	315	263	52	134	134	0	strelka-varscan-mutect	PRPS1,missense_variant,p.Val244Ile,ENST00000372435,NM_002764.3;PRPS1,missense_variant,p.Val40Ile,ENST00000372428,NM_001204402.1;PRPS1,missense_variant,p.Val144Ile,ENST00000372418,;	A	ENST00000372435	Transcript	missense_variant	852/2073	730/957	244/318	V/I	Gtt/Att		1		1	PRPS1	HGNC	HGNC:9462	protein_coding	YES	CCDS14529.1	ENSP00000361512	P60891		UPI00000000A5	NM_002764.3	tolerated(0.13)		6/7		Gene3D:3.40.50.2020,HAMAP:MF_00583_B,Pfam_domain:PF14572,hmmpanther:PTHR10210,hmmpanther:PTHR10210:SF60,Superfamily_domains:SSF53271,TIGRFAM_domain:TIGR01251																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	61	107647631	107647631	G	A	1	0	0	0	0	1	0	0	0	12714	1029	36	3		3	PRPS1	23	107647631	Missense_Mutation	SNP	G	C3N-00579_TP	23774504	107647631	48393264	70	19459											
ADGRG4	0	.	GRCh38	chrX	136349082	136349082	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaccaccaattgcttttcTtctaatactagaaagatgac	15	12	4	10	0	2	3	0	1	2	2	2	3	2	3	2	0	3	1	2	0	6	7	novel		C3N-00579_TP	C3N-00579_NB	T	T																c.5376T>A	p.=	p.S1792S	ENST00000394143	6/26	70	64	6	48	48	0	strelka-varscan-mutect	ADGRG4,synonymous_variant,p.=,ENST00000394143,NM_153834.3;ADGRG4,synonymous_variant,p.=,ENST00000370652,;ADGRG4,synonymous_variant,p.=,ENST00000394141,;	A	ENST00000394143	Transcript	synonymous_variant	5667/9931	5376/9243	1792/3080	S	tcT/tcA		1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3			6/26																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	61	136349082	136349082	T	A	1	0	0	0	0	0	0	0	1	371	1596	56	4		4	ADGRG4	23	136349082	Silent	SNP	T	C3N-00579_TP	28701451	136349082	19691813	71	19460											
CFAP74	0	.	GRCh38	chr1	1923446	1923446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggtcgccgccctccacGaacatcatgtgctgacaggc	8	6	13	14	3	1	1	1	1	0	0	3	2	2	1	3	3	2	1	3	3	1	0	rs768973631		C3N-00580_TP	C3N-00580_NB	G	G																c.4443C>A	p.Phe1481Leu	p.F1481L	ENST00000493964	36/38	203	184	19	229	228	1	strelka-varscan-mutect	CFAP74,missense_variant,p.Phe1481Leu,ENST00000493964,NM_001304360.1;TMEM52,upstream_gene_variant,,ENST00000378602,;TMEM52,upstream_gene_variant,,ENST00000310991,NM_178545.3;TMEM52,upstream_gene_variant,,ENST00000378598,;TMEM52,upstream_gene_variant,,ENST00000416272,;CFAP74,non_coding_transcript_exon_variant,,ENST00000464311,;CFAP74,non_coding_transcript_exon_variant,,ENST00000412120,;TMEM52,upstream_gene_variant,,ENST00000602604,;TMEM52,upstream_gene_variant,,ENST00000470931,;	T	ENST00000493964	Transcript	missense_variant	4599/5247	4443/4755	1481/1584	F/L	ttC/ttA	rs768973631	1		-1	CFAP74	HGNC	HGNC:29368	protein_coding	YES		ENSP00000417061	Q9C0B2		UPI0004620AE2	NM_001304360.1	deleterious(0.01)		36/38		hmmpanther:PTHR22538																	MODERATE		SNV	5			1										PASS		rs768973631	.												T	3	4	62	1923446	1923446	G	T	1	0	0	0	0	1	0	0	0	3033	1049	37	1		1	CFAP74	1	1923446	Missense_Mutation	SNP	G	C3N-00580_TP		1923446	247032976	1	19461											
CHD5	0	.	GRCh38	chr1	6106687	6106687	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctccgacatctgcagccGggcggccaccggggggatgc	5	4	17	15	5	1	0	0	0	1	0	2	2	2	1	4	5	3	2	4	5	0	0	rs371741094		C3N-00580_TP	C3N-00580_NB	G	G																c.5671C>A	p.=	p.R1891R	ENST00000262450	39/42	150	130	20	122	122	0	strelka-varscan-mutect	CHD5,synonymous_variant,p.=,ENST00000262450,NM_015557.2;CHD5,synonymous_variant,p.=,ENST00000475121,;CHD5,3_prime_UTR_variant,,ENST00000496404,;CHD5,3_prime_UTR_variant,,ENST00000462991,;CHD5,3_prime_UTR_variant,,ENST00000377999,;	T	ENST00000262450	Transcript	synonymous_variant	5771/9646	5671/5865	1891/1954	R	Cgg/Agg	rs371741094	1		-1	CHD5	HGNC	HGNC:16816	protein_coding	YES	CCDS57.1	ENSP00000262450	Q8TDI0		UPI000006CD03	NM_015557.2			39/42		Pfam_domain:PF08074																	LOW	1	SNV	1			1										PASS		rs371741094	.												T	2	4	62	6106687	6106687	G	T	1	0	0	0	0	0	0	0	1	3087	1115	39	1		1	CHD5	1	6106687	Silent	SNP	G	C3N-00580_TP	4183241	6106687	242849735	2	19462											
TAS1R1	0	.	GRCh38	chr1	6574643	6574643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccatagattagctatgcgGccagcagcgagacgctcagc	10	7	11	13	3	1	2	1	0	0	2	2	3	2	2	2	1	5	3	2	1	3	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.511G>T	p.Ala171Ser	p.A171S	ENST00000333172	3/6	85	77	8	85	85	0	strelka-varscan-mutect	TAS1R1,missense_variant,p.Ala171Ser,ENST00000333172,NM_138697.3;TAS1R1,missense_variant,p.Ala97Ser,ENST00000411823,;TAS1R1,intron_variant,,ENST00000351136,NM_177540.2;TAS1R1,intron_variant,,ENST00000415267,;	T	ENST00000333172	Transcript	missense_variant	704/2892	511/2526	171/841	A/S	Gcc/Tcc		1		1	TAS1R1	HGNC	HGNC:14448	protein_coding	YES	CCDS81.1	ENSP00000331867	Q7RTX1		UPI000004737B	NM_138697.3	deleterious(0.03)		3/6		hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF3,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		rs1470993468	.												T	3	4	62	6574643	6574643	G	T	1	0	0	0	0	1	0	0	0	15961	1203	42	2		2	TAS1R1	1	6574643	Missense_Mutation	SNP	G	C3N-00580_TP	467956	6574643	242381779	3	19463											
CAMTA1	0	.	GRCh38	chr1	7664269	7664269	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctgccgtcgggcggcggCctgagtcccagcaccaccct	4	6	12	19	4	0	1	0	1	0	0	3	1	2	1	6	3	2	1	6	3	0	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1722C>A	p.=	p.G574G	ENST00000303635	9/23	291	143	148	183	183	0	strelka-varscan-mutect	CAMTA1,synonymous_variant,p.=,ENST00000303635,NM_015215.3;	A	ENST00000303635	Transcript	synonymous_variant	1929/8444	1722/5022	574/1673	G	ggC/ggA		1		1	CAMTA1	HGNC	HGNC:18806	protein_coding	YES	CCDS30576.1	ENSP00000306522	Q9Y6Y1		UPI00001C1D72	NM_015215.3			9/23		Low_complexity_(Seg):seg,hmmpanther:PTHR23335:SF11,hmmpanther:PTHR23335																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	7664269	7664269	C	A	1	0	0	0	0	0	0	0	1	2306	726	26	2		2	CAMTA1	1	7664269	Silent	SNP	C	C3N-00580_TP	1089626	7664269	241292153	4	19464											
MTOR	0	.	GRCh38	chr1	11241664	11241664	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagactgtggcatccaccTgcattgccttctgcctcctg	6	12	9	14	0	1	2	0	1	1	1	3	2	3	2	5	1	3	2	5	1	1	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1430A>T	p.Gln477Leu	p.Q477L	ENST00000361445	10/58	195	116	79	155	155	0	strelka-varscan-mutect	MTOR,missense_variant,p.Gln477Leu,ENST00000361445,NM_004958.3;	A	ENST00000361445	Transcript	missense_variant	1507/8677	1430/7650	477/2549	Q/L	cAg/cTg		1		-1	MTOR	HGNC	HGNC:3942	protein_coding	YES	CCDS127.1	ENSP00000354558	P42345		UPI000012ABD3	NM_004958.3	tolerated(0.46)		10/58		hmmpanther:PTHR11139:SF9,hmmpanther:PTHR11139,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	11241664	11241664	T	A	1	0	0	0	0	1	0	0	0	9941	1580	55	4		4	MTOR	1	11241664	Missense_Mutation	SNP	T	C3N-00580_TP	3577395	11241664	237714758	5	19465											
PRAMEF15	0	.	GRCh38	chr1	13321860	13321860	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagtcttgtgcctctccaaAttctcctagaaaaagttgca	12	13	6	10	0	3	1	0	0	3	1	5	1	3	1	3	0	2	2	3	0	5	5	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1033A>C	p.Ile345Leu	p.I345L	ENST00000376152	4/4	948	885	63	832	832	0	varscan-mutect	PRAMEF15,missense_variant,p.Ile345Leu,ENST00000376152,NM_001098376.2;PRAMEF15,missense_variant,p.Ile343Leu,ENST00000613530,;RP11-219C24.10,upstream_gene_variant,,ENST00000432559,;	C	ENST00000376152	Transcript	missense_variant	1127/1865	1033/1437	345/478	I/L	Att/Ctt		1		1	PRAMEF15	HGNC	HGNC:26764	protein_coding	YES	CCDS44059.1	ENSP00000365322	Q5VWM5		UPI0000199BA7	NM_001098376.2	tolerated(0.09)		4/4		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF19,PIRSF_domain:PIRSF038286,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	13321860	13321860	A	C	1	0	0	0	0	1	0	0	0	12559	101	4	5		5	PRAMEF15	1	13321860	Missense_Mutation	SNP	A	C3N-00580_TP	2080196	13321860	235634562	6	19466											
PLEKHM2	0	.	GRCh38	chr1	15728352	15728352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctatgtctacctgctccGgaaaggtgcccgccgccccc	5	8	10	18	3	1	0	0	0	1	0	2	1	2	1	6	2	4	2	6	2	3	2	rs368652190		C3N-00580_TP	C3N-00580_NB	G	G																c.1916G>T	p.Arg639Leu	p.R639L	ENST00000375799	11/20	151	56	95	172	172	0	strelka-varscan-mutect	PLEKHM2,missense_variant,p.Arg639Leu,ENST00000375799,NM_015164.2;PLEKHM2,missense_variant,p.Arg619Leu,ENST00000375793,;RP11-288I21.1,intron_variant,,ENST00000615472,;RP11-288I21.1,intron_variant,,ENST00000623689,;RP11-288I21.1,intron_variant,,ENST00000453804,;PLEKHM2,upstream_gene_variant,,ENST00000477849,;	T	ENST00000375799	Transcript	missense_variant	2143/4122	1916/3060	639/1019	R/L	cGg/cTg	rs368652190,COSM4715724,COSM4715725	1		1	PLEKHM2	HGNC	HGNC:29131	protein_coding	YES	CCDS44063.1	ENSP00000364956	Q8IWE5		UPI00001C1D9C	NM_015164.2	deleterious(0)		11/20		hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF155											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs368652190	.												T	3	4	62	15728352	15728352	G	T	1	0	0	0	0	1	0	0	0	12174	1130	39	1		1	PLEKHM2	1	15728352	Missense_Mutation	SNP	G	C3N-00580_TP	2406492	15728352	233228070	7	19467											
PLEKHM2	0	.	GRCh38	chr1	15732375	15732375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagggcgtagctcccaGcccctgcataccctgctgcc	5	6	9	21	1	0	0	0	0	0	0	1	0	1	0	7	1	6	4	7	1	2	2	rs768068764		C3N-00580_TP	C3N-00580_NB	G	G																c.2651G>T	p.Ser884Ile	p.S884I	ENST00000375799	18/20	157	64	93	143	143	0	strelka-varscan-mutect	PLEKHM2,missense_variant,p.Ser884Ile,ENST00000375799,NM_015164.2;PLEKHM2,missense_variant,p.Ser864Ile,ENST00000375793,;SLC25A34,upstream_gene_variant,,ENST00000294454,NM_207348.2;RP11-288I21.1,intron_variant,,ENST00000615472,;RP11-288I21.1,intron_variant,,ENST00000623689,;RP11-288I21.1,intron_variant,,ENST00000453804,;PLEKHM2,non_coding_transcript_exon_variant,,ENST00000477849,;	T	ENST00000375799	Transcript	missense_variant	2878/4122	2651/3060	884/1019	S/I	aGc/aTc	rs768068764	1		1	PLEKHM2	HGNC	HGNC:29131	protein_coding	YES	CCDS44063.1	ENSP00000364956	Q8IWE5		UPI00001C1D9C	NM_015164.2	deleterious(0.03)		18/20																			MODERATE	1	SNV	1			1										PASS		rs768068764	.												T	3	4	62	15732375	15732375	G	T	1	0	0	0	0	1	0	0	0	12174	971	34	2		2	PLEKHM2	1	15732375	Missense_Mutation	SNP	G	C3N-00580_TP	4023	15732375	233224047	8	19468											
PLEKHM2	0	.	GRCh38	chr1	15732612	15732612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggggcctggctctccctagGagttctcccaggacagccag	6	7	14	14	0	2	0	0	0	2	0	4	2	2	2	4	5	1	2	4	5	1	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2806G>A	p.Glu936Lys	p.E936K	ENST00000375799	19/20	125	73	52	136	135	1	strelka-varscan-mutect	PLEKHM2,missense_variant,p.Glu936Lys,ENST00000375799,NM_015164.2;PLEKHM2,missense_variant,p.Glu916Lys,ENST00000375793,;SLC25A34,upstream_gene_variant,,ENST00000294454,NM_207348.2;RP11-288I21.1,intron_variant,,ENST00000453804,;RP11-288I21.1,upstream_gene_variant,,ENST00000615472,;RP11-288I21.1,upstream_gene_variant,,ENST00000623689,;PLEKHM2,splice_region_variant,,ENST00000477849,;	A	ENST00000375799	Transcript	missense_variant,splice_region_variant	3033/4122	2806/3060	936/1019	E/K	Gag/Aag		1		1	PLEKHM2	HGNC	HGNC:29131	protein_coding	YES	CCDS44063.1	ENSP00000364956	Q8IWE5		UPI00001C1D9C	NM_015164.2	deleterious(0.01)		19/20																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	15732612	15732612	G	A	1	0	0	0	0	1	0	0	0	12174	1188	41	3		3	PLEKHM2	1	15732612	Missense_Mutation	SNP	G	C3N-00580_TP	237	15732612	233223810	9	19469											
CROCC	0	.	GRCh38	chr1	16924441	16924441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagagccgtgccgagcgcGatgagctcgccattaagtac	9	6	12	14	5	0	2	0	1	0	1	1	4	0	2	4	0	5	2	4	0	2	2	rs201480427		C3N-00580_TP	C3N-00580_NB	G	G																c.313G>A	p.Asp105Asn	p.D105N	ENST00000375541	3/37	438	347	91	342	342	0	strelka-varscan-mutect	CROCC,missense_variant,p.Asp105Asn,ENST00000375541,NM_014675.4;CROCC,missense_variant,p.Asp55Asn,ENST00000445545,;CROCC,intron_variant,,ENST00000467938,;CROCC,intron_variant,,ENST00000466256,;	A	ENST00000375541	Transcript	missense_variant	382/6656	313/6054	105/2017	D/N	Gat/Aat	rs201480427,COSM3966035	1		1	CROCC	HGNC	HGNC:21299	protein_coding	YES	CCDS30616.1	ENSP00000364691	Q5TZA2		UPI000042B0BB	NM_014675.4	deleterious(0)		3/37		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF17											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs201480427	.												A	3	1	62	16924441	16924441	G	A	1	0	0	0	0	1	0	0	0	3694	1058	37	1		1	CROCC	1	16924441	Missense_Mutation	SNP	G	C3N-00580_TP	1191829	16924441	232031981	10	19470											
CROCC	0	.	GRCh38	chr1	16966561	16966561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccgagagcgagctccGggccagccaggtgggcagga	8	2	18	13	3	0	1	0	0	0	1	1	4	1	2	5	5	3	2	5	5	0	0	rs566509715		C3N-00580_TP	C3N-00580_NB	G	G																c.4850G>T	p.Arg1617Leu	p.R1617L	ENST00000375541	30/37	64	60	4	65	65	0	strelka-mutect	CROCC,missense_variant,p.Arg1617Leu,ENST00000375541,NM_014675.4;CROCC,non_coding_transcript_exon_variant,,ENST00000465021,;CROCC,upstream_gene_variant,,ENST00000465291,;	T	ENST00000375541	Transcript	missense_variant	4919/6656	4850/6054	1617/2017	R/L	cGg/cTg	rs566509715	1		1	CROCC	HGNC	HGNC:21299	protein_coding	YES	CCDS30616.1	ENSP00000364691	Q5TZA2		UPI000042B0BB	NM_014675.4	deleterious(0)		30/37		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF17,Superfamily_domains:SSF57997																	MODERATE	1	SNV	5			1										PASS		rs566509715	.												T	3	4	62	16966561	16966561	G	T	1	0	0	0	0	1	0	0	0	3694	1116	39	1		1	CROCC	1	16966561	Missense_Mutation	SNP	G	C3N-00580_TP	42120	16966561	231989861	11	19471											
PADI2	0	.	GRCh38	chr1	17095909	17095909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctgaaagctaggtacCttctttgggttgttcttctc	5	16	9	11	0	3	1	0	1	3	0	4	1	3	1	2	2	3	4	2	2	3	7	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.411G>T	p.Lys137Asn	p.K137N	ENST00000375486	4/16	107	96	11	107	106	1	strelka-mutect	PADI2,missense_variant,p.Lys137Asn,ENST00000375486,NM_007365.2;PADI2,missense_variant,p.Lys137Asn,ENST00000375481,;	A	ENST00000375486	Transcript	missense_variant,splice_region_variant	475/4345	411/1998	137/665	K/N	aaG/aaT		1		-1	PADI2	HGNC	HGNC:18341	protein_coding	YES	CCDS177.1	ENSP00000364635	Q9Y2J8	A0A024RA98	UPI00001314AF	NM_007365.2	deleterious(0)		4/16		Superfamily_domains:0044952,PD936484,Pfam_domain:PF08527,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	17095909	17095909	C	A	1	0	0	0	0	1	0	0	0	11456	695	24	2		2	PADI2	1	17095909	Missense_Mutation	SNP	C	C3N-00580_TP	129348	17095909	231860513	12	19472											
PADI6	0	.	GRCh38	chr1	17398730	17398730	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctgaagacggagctgggCctggtggaacaggacatcat	11	7	14	9	1	1	2	1	1	0	1	2	5	2	5	2	5	2	1	2	5	2	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1734C>A	p.=	p.G578G	ENST00000619609	15/16	246	223	23	186	186	0	strelka-varscan-mutect	PADI6,synonymous_variant,p.=,ENST00000619609,NM_207421.4;	A	ENST00000619609	Transcript	synonymous_variant	1784/2396	1734/2085	578/694	G	ggC/ggA		1		1	PADI6	HGNC	HGNC:20449	protein_coding	YES	CCDS72715.1	ENSP00000483125	Q6TGC4		UPI0000253BE7	NM_207421.4			15/16		hmmpanther:PTHR10837:SF4,hmmpanther:PTHR10837,PIRSF_domain:PIRSF001247,Pfam_domain:PF03068,Superfamily_domains:SSF55909																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	17398730	17398730	C	A	1	0	0	0	0	0	0	0	1	11459	726	26	2		2	PADI6	1	17398730	Silent	SNP	C	C3N-00580_TP	302821	17398730	231557692	13	19473											
IGSF21	0	.	GRCh38	chr1	18365513	18365513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccgtgagtttccccgctgGgtccacagcgccgagcccac	6	6	12	17	4	0	1	0	1	0	0	2	2	2	1	6	1	3	2	6	1	0	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.831G>T	p.Trp277Cys	p.W277C	ENST00000251296	6/10	557	500	57	599	599	0	strelka-varscan-mutect	IGSF21,missense_variant,p.Trp277Cys,ENST00000251296,NM_032880.4;IGSF21,non_coding_transcript_exon_variant,,ENST00000412684,;IGSF21,non_coding_transcript_exon_variant,,ENST00000497331,;	T	ENST00000251296	Transcript	missense_variant	1214/1943	831/1404	277/467	W/C	tgG/tgT		1		1	IGSF21	HGNC	HGNC:28246	protein_coding	YES	CCDS184.1	ENSP00000251296	Q96ID5		UPI000006FCF2	NM_032880.4	deleterious(0)		6/10		hmmpanther:PTHR10489:SF442,hmmpanther:PTHR10489																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	18365513	18365513	G	T	1	0	0	0	0	1	0	0	0	7506	1241	43	2		2	IGSF21	1	18365513	Missense_Mutation	SNP	G	C3N-00580_TP	966783	18365513	230590909	14	19474											
UBR4	0	.	GRCh38	chr1	19184025	19184025	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctactgacccttgagtcCatctttgtccacctccttga	6	15	6	14	0	2	3	0	3	2	0	5	3	5	3	5	0	1	0	5	0	1	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2089G>T	p.Gly697Ter	p.G697*	ENST00000375254	16/106	174	151	23	134	134	0	strelka-varscan-mutect	UBR4,stop_gained,p.Gly697Ter,ENST00000375254,NM_020765.2;	A	ENST00000375254	Transcript	stop_gained	2117/15906	2089/15552	697/5183	G/*	Gga/Tga		1		-1	UBR4	HGNC	HGNC:30313	protein_coding	YES	CCDS189.1	ENSP00000364403	Q5T4S7		UPI000021276F	NM_020765.2			16/106		hmmpanther:PTHR21725																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	62	19184025	19184025	C	A	1	0	0	0	0	0	1	0	0	17428	603	21	2		2	UBR4	1	19184025	Nonsense_Mutation	SNP	C	C3N-00580_TP	818512	19184025	229772397	15	19475											
VWA5B1	0	.	GRCh38	chr1	20354005	20354005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagctgggcctggagccgagGgcagtggtggagcacactgg	8	5	19	9	1	0	0	0	0	0	0	0	3	0	2	2	6	3	3	2	6	1	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.3405G>T	p.Arg1135Ser	p.R1135S	ENST00000375079	22/22	409	355	54	430	430	0	strelka-varscan-mutect	VWA5B1,missense_variant,p.Arg1130Ser,ENST00000289815,NM_001039500.2;VWA5B1,missense_variant,p.Arg1135Ser,ENST00000375079,;VWA5B1,non_coding_transcript_exon_variant,,ENST00000525343,;VWA5B1,3_prime_UTR_variant,,ENST00000485375,;VWA5B1,3_prime_UTR_variant,,ENST00000467486,;	T	ENST00000375079	Transcript	missense_variant	3601/3859	3405/3663	1135/1220	R/S	agG/agT		1		1	VWA5B1	HGNC	HGNC:26538	protein_coding	YES		ENSP00000364220	Q5TIE3		UPI000066D8B8		tolerated(0.76)		22/22		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF109																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	20354005	20354005	G	T	1	0	0	0	0	1	0	0	0	17797	1223	43	2		2	VWA5B1	1	20354005	Missense_Mutation	SNP	G	C3N-00580_TP	1169980	20354005	228602417	16	19476											
EIF4G3	0	.	GRCh38	chr1	20904923	20904923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcagtggttcgggtcCgatcttttggtttcttccat	3	19	9	10	2	4	0	1	0	3	0	8	1	6	0	2	3	0	2	2	3	0	6	rs772664825		C3N-00580_TP	C3N-00580_NB	C	C																c.1541G>T	p.Arg514Leu	p.R514L	ENST00000400422	12/35	184	157	27	194	194	0	strelka-varscan-mutect	EIF4G3,missense_variant,p.Arg521Leu,ENST00000602326,NM_001198802.1;EIF4G3,missense_variant,p.Arg515Leu,ENST00000264211,NM_003760.4;EIF4G3,missense_variant,p.Arg514Leu,ENST00000400422,NM_001198801.1;EIF4G3,missense_variant,p.Arg235Leu,ENST00000374935,;EIF4G3,missense_variant,p.Arg704Leu,ENST00000634879,;EIF4G3,non_coding_transcript_exon_variant,,ENST00000374933,;	A	ENST00000400422	Transcript	missense_variant	2122/5762	1541/4866	514/1621	R/L	cGg/cTg	rs772664825,COSM1238771,COSM1238772	1		-1	EIF4G3	HGNC	HGNC:3298	protein_coding	YES	CCDS72723.1	ENSP00000383274		A0A0A0MSA7	UPI0000D4C1EC	NM_001198801.1	tolerated_low_confidence(0.3)		12/35		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs772664825	.												A	3	1	62	20904923	20904923	C	A	1	0	0	0	0	1	0	0	0	4871	652	23	1		1	EIF4G3	1	20904923	Missense_Mutation	SNP	C	C3N-00580_TP	550918	20904923	228051499	17	19477											
HSPG2	0	.	GRCh38	chr1	21890664	21890664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggctgtactcgatggagCgagtgaaattcaccagggct	10	8	15	8	2	1	1	1	1	0	0	2	5	1	2	1	3	2	3	1	3	2	2	rs554613529		C3N-00580_TP	C3N-00580_NB	C	C																c.275G>A	p.Arg92His	p.R92H	ENST00000374695	4/97	622	356	266	766	765	1	strelka-varscan-mutect	HSPG2,missense_variant,p.Arg92His,ENST00000374695,NM_005529.6,NM_001291860.1;HSPG2,intron_variant,,ENST00000412328,;HSPG2,upstream_gene_variant,,ENST00000374673,;HSPG2,non_coding_transcript_exon_variant,,ENST00000439717,;	T	ENST00000374695	Transcript	missense_variant	355/14327	275/13176	92/4391	R/H	cGc/cAc	rs554613529	1		-1	HSPG2	HGNC	HGNC:5273	protein_coding	YES	CCDS30625.1	ENSP00000363827	P98160		UPI0000212778	NM_005529.6,NM_001291860.1	tolerated(0.59)		4/97		PROSITE_profiles:PS50024,SMART_domains:SM00200																	MODERATE	1	SNV	1			1										PASS		rs554613529	.												T	3	4	62	21890664	21890664	C	T	1	0	0	0	0	1	0	0	0	7326	768	27	1		1	HSPG2	1	21890664	Missense_Mutation	SNP	C	C3N-00580_TP	985741	21890664	227065758	18	19478											
C1QC	0	.	GRCh38	chr1	22647279	22647279	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggcagaagggagaaccCggcttacccggccatcctgg	11	4	14	12	2	0	2	0	0	0	2	1	3	1	2	4	5	2	2	4	5	4	1	rs112294511		C3N-00580_TP	C3N-00580_NB	C	C																c.234C>A	p.=	p.P78P	ENST00000374639	3/3	226	188	38	215	215	0	strelka-varscan-mutect	C1QC,synonymous_variant,p.=,ENST00000374639,NM_001114101.1;C1QC,synonymous_variant,p.=,ENST00000374640,NM_172369.3;C1QC,synonymous_variant,p.=,ENST00000374637,;	A	ENST00000374639	Transcript	synonymous_variant	352/1183	234/738	78/245	P	ccC/ccA	rs112294511	1		1	C1QC	HGNC	HGNC:1245	protein_coding	YES	CCDS227.1	ENSP00000363770	P02747	A0A024RAA7	UPI0000126BF3	NM_001114101.1			3/3		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF558																	LOW	1	SNV	2			1										PASS		rs112294511	.												A	2	1	62	22647279	22647279	C	A	1	0	0	0	0	0	0	0	1	1935	639	23	1		1	C1QC	1	22647279	Silent	SNP	C	C3N-00580_TP	756615	22647279	226309143	19	19479											
MYOM3	0	.	GRCh38	chr1	24107099	24107099	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcgtcttccagtcccGcctctggcgcagcagccggt	4	8	11	18	4	3	0	1	0	2	0	5	0	5	0	5	2	3	2	5	2	0	1	rs761928788		C3N-00580_TP	C3N-00580_NB	G	G																c.376C>A	p.=	p.R126R	ENST00000374434	4/37	126	114	12	168	168	0	strelka-varscan-mutect	MYOM3,synonymous_variant,p.=,ENST00000374434,NM_152372.3;MYOM3,non_coding_transcript_exon_variant,,ENST00000475306,;	T	ENST00000374434	Transcript	synonymous_variant	539/5804	376/4314	126/1437	R	Cgg/Agg	rs761928788	1		-1	MYOM3	HGNC	HGNC:26679	protein_coding	YES	CCDS41281.1	ENSP00000363557	Q5VTT5		UPI0000203A5D	NM_152372.3			4/37		Coiled-coils_(Ncoils):Coil																	LOW	1	SNV	1			1										PASS		rs761928788	.												T	2	4	62	24107099	24107099	G	T	1	0	0	0	0	0	0	0	1	10094	1086	38	1		1	MYOM3	1	24107099	Silent	SNP	G	C3N-00580_TP	1459820	24107099	224849323	20	19480											
IL22RA1	0	.	GRCh38	chr1	24138596	24138596	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctacgtcttatactcgatGctgtagaccgtgtctggggt	6	13	12	10	3	2	1	0	0	2	1	3	2	2	1	2	2	3	2	2	2	4	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.162C>T	p.=	p.S54S	ENST00000270800	2/7	215	179	36	188	188	0	strelka-varscan-mutect	IL22RA1,synonymous_variant,p.=,ENST00000270800,NM_021258.3;	A	ENST00000270800	Transcript	synonymous_variant	201/2798	162/1725	54/574	S	agC/agT		1		-1	IL22RA1	HGNC	HGNC:13700	protein_coding	YES	CCDS247.1	ENSP00000270800	Q8N6P7		UPI0000071143	NM_021258.3			2/7		Gene3D:2.60.40.10,Pfam_domain:PF01108,PROSITE_profiles:PS50853,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF20,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	24138596	24138596	G	A	1	0	0	0	0	0	0	0	1	7576	1310	46	3		3	IL22RA1	1	24138596	Silent	SNP	G	C3N-00580_TP	31497	24138596	224817826	21	19481											
SLC30A2	0	.	GRCh38	chr1	26039843	26039843	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagatatgcaggctgtgcaGggcttctaccccctccaccg	7	8	10	16	1	1	1	0	0	1	1	2	1	2	1	5	2	3	4	5	2	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.907C>T	p.=	p.L303L	ENST00000374276	7/8	351	295	56	369	369	0	strelka-varscan-mutect	SLC30A2,synonymous_variant,p.=,ENST00000374278,NM_032513.4;SLC30A2,synonymous_variant,p.=,ENST00000374276,NM_001004434.2;EXTL1,downstream_gene_variant,,ENST00000374280,NM_004455.2;SLC30A2,downstream_gene_variant,,ENST00000498060,;EXTL1,downstream_gene_variant,,ENST00000470037,;	A	ENST00000374276	Transcript	synonymous_variant	1144/2494	907/1119	303/372	L	Ctg/Ttg		1		-1	SLC30A2	HGNC	HGNC:11013	protein_coding	YES	CCDS30644.1	ENSP00000363394	Q9BRI3		UPI0000049F98	NM_001004434.2			7/8		hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF51,TIGRFAM_domain:TIGR01297,Superfamily_domains:SSF160240																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	26039843	26039843	G	A	1	0	0	0	0	0	0	0	1	14825	991	35	3		3	SLC30A2	1	26039843	Silent	SNP	G	C3N-00580_TP	1901247	26039843	222916579	22	19482											
AIM1L	0	.	GRCh38	chr1	26336691	26336691	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacgcccttctccagcacgTactgttccccggagaagccc	8	7	8	18	3	1	1	0	0	1	1	3	2	2	1	5	1	3	3	5	1	2	3	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.3953A>G	p.Tyr1318Cys	p.Y1318C	ENST00000308182	12/20	267	240	27	585	585	0	strelka-varscan-mutect	AIM1L,missense_variant,p.Tyr1318Cys,ENST00000308182,NM_001039775.3;AIM1L,missense_variant,p.Tyr444Cys,ENST00000527815,;AIM1L,missense_variant,p.Tyr211Cys,ENST00000429942,;AIM1L,non_coding_transcript_exon_variant,,ENST00000522993,;AIM1L,non_coding_transcript_exon_variant,,ENST00000522923,;AIM1L,upstream_gene_variant,,ENST00000520372,;	C	ENST00000308182	Transcript	missense_variant	4103/5245	3953/4986	1318/1661	Y/C	tAc/tGc		1		-1	AIM1L	HGNC	HGNC:17295	protein_coding	YES		ENSP00000310435	Q8N1P7		UPI0001DD21C3	NM_001039775.3	deleterious(0.01)		12/20		Gene3D:2.60.20.10,Pfam_domain:PF00030,PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF50,SMART_domains:SM00247,Superfamily_domains:SSF49695																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	62	26336691	26336691	T	C	1	0	0	0	0	1	0	0	0	508	1638	57	5		5	AIM1L	1	26336691	Missense_Mutation	SNP	T	C3N-00580_TP	296848	26336691	222619731	23	19483											
PUM1	0	.	GRCh38	chr1	30964686	30964717	+	Frame_Shift_Del	DEL	TTGAAGAGGATCCATGTGAAGAGAGGGAAGGA	TTGAAGAGGATCCATGTGAAGAGAGGGAAGGA	-																															gttcttacccaggtttaagcTtgaagaggatccatgtgaag																								novel		C3N-00580_TP	C3N-00580_NB	TTGAAGAGGATCCATGTGAAGAGAGGGAAGGA	TTGAAGAGGATCCATGTGAAGAGAGGGAAGGA																c.2280_2311delTCCTTCCCTCTCTTCACATGGATCCTCTTCAA	p.Pro761LeufsTer21	p.P761Lfs*21	ENST00000426105	14/22	321	280	41	385	384	1	sindel-pindel	PUM1,frameshift_variant,p.Pro762LeufsTer21,ENST00000373747,;PUM1,frameshift_variant,p.Pro761LeufsTer21,ENST00000257075,NM_014676.2;PUM1,frameshift_variant,p.Pro519LeufsTer21,ENST00000424085,;PUM1,frameshift_variant,p.Pro797LeufsTer21,ENST00000373741,;PUM1,frameshift_variant,p.Pro761LeufsTer21,ENST00000426105,NM_001020658.1;PUM1,frameshift_variant,p.Pro735LeufsTer21,ENST00000440538,;PUM1,frameshift_variant,p.Pro702LeufsTer21,ENST00000373742,;PUM1,frameshift_variant,p.Pro473LeufsTer21,ENST00000498419,;PUM1,intron_variant,,ENST00000525843,;PUM1,downstream_gene_variant,,ENST00000532678,;PUM1,downstream_gene_variant,,ENST00000490546,;PUM1,frameshift_variant,p.Pro53LeufsTer?,ENST00000527498,;PUM1,downstream_gene_variant,,ENST00000471894,;PUM1,downstream_gene_variant,,ENST00000498627,;	-	ENST00000426105	Transcript	frameshift_variant	2371-2402/4043	2280-2311/3567	760-771/1188	PPSLSSHGSSSS/PX	ccTCCTTCCCTCTCTTCACATGGATCCTCTTCAAgc/ccgc		1		-1	PUM1	HGNC	HGNC:14957	protein_coding	YES	CCDS44099.1	ENSP00000391723	Q14671		UPI0000203D8E	NM_001020658.1			14/22		hmmpanther:PTHR12537,hmmpanther:PTHR12537:SF1,Low_complexity_(Seg):seg																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	62	30964686	30964686	TTGAAGAGGATCCATGTGAAGAGAGGGAAGGA	-	1	0	1	0	1	0	0	0	0	12982	1609	56	0		0	PUM1	1	30964686	Frame_Shift_Del	DEL	TTGAAGAGGATCCATGTGAAGAGAGGGAAGGA	C3N-00580_TP	4627995	30964686	217991736	24	19484											
C1orf94	0	.	GRCh38	chr1	34200964	34200964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctctatgagttccttggggCcaccaagaacccaagcgggc	9	7	12	13	1	1	2	0	1	1	1	2	2	2	2	4	3	2	2	4	3	4	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1202C>A	p.Ala401Asp	p.A401D	ENST00000488417	3/7	454	339	115	472	472	0	strelka-varscan-mutect	C1orf94,missense_variant,p.Ala401Asp,ENST00000488417,NM_001134734.1;C1orf94,missense_variant,p.Ala211Asp,ENST00000373374,NM_032884.4;	A	ENST00000488417	Transcript	missense_variant	1322/2287	1202/1797	401/598	A/D	gCc/gAc		1		1	C1orf94	HGNC	HGNC:28250	protein_coding	YES	CCDS44108.1	ENSP00000435634	Q6P1W5		UPI0000D4BFB0	NM_001134734.1	deleterious_low_confidence(0.05)		3/7		hmmpanther:PTHR35674,hmmpanther:PTHR35674:SF1,Pfam_domain:PF15752																	MODERATE	1	SNV	1			1										PASS		rs1412312966	.												A	3	1	62	34200964	34200964	C	A	1	0	0	0	0	1	0	0	0	2000	739	26	2		2	C1orf94	1	34200964	Missense_Mutation	SNP	C	C3N-00580_TP	3236278	34200964	214755458	25	19485											
HIVEP3	0	.	GRCh38	chr1	41584182	41584182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaatgtgcttctggagcaCgctgggcttggcacagggcc	6	8	16	11	2	1	0	0	0	1	0	1	2	1	1	1	4	2	5	1	4	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.616G>T	p.Val206Leu	p.V206L	ENST00000372583	4/9	210	101	109	198	198	0	strelka-varscan-mutect	HIVEP3,missense_variant,p.Val206Leu,ENST00000372584,NM_001127714.2;HIVEP3,missense_variant,p.Val206Leu,ENST00000372583,NM_024503.4;HIVEP3,upstream_gene_variant,,ENST00000460604,;	A	ENST00000372583	Transcript	missense_variant	1502/12193	616/7221	206/2406	V/L	Gtg/Ttg		1		-1	HIVEP3	HGNC	HGNC:13561	protein_coding	YES	CCDS463.1	ENSP00000361664	Q5T1R4		UPI000013CC24	NM_024503.4	deleterious(0.01)		4/9		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	41584182	41584182	C	A	1	0	0	0	0	1	0	0	0	7077	536	19	1		1	HIVEP3	1	41584182	Missense_Mutation	SNP	C	C3N-00580_TP	7383218	41584182	207372240	26	19486											
YBX1	0	.	GRCh38	chr1	42696672	42696672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaatgttacaggtcctGgtggtgttccagttcaaggc	9	11	12	9	0	1	0	1	0	0	0	3	0	3	0	2	4	2	4	2	4	3	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.385G>T	p.Gly129Cys	p.G129C	ENST00000321358	5/8	36	19	17	29	29	0	strelka-varscan-mutect	YBX1,missense_variant,p.Gly179Cys,ENST00000436427,;YBX1,missense_variant,p.Gly129Cys,ENST00000321358,NM_004559.3;YBX1,missense_variant,p.Gly99Cys,ENST00000332220,;YBX1,non_coding_transcript_exon_variant,,ENST00000467957,;	T	ENST00000321358	Transcript	missense_variant	524/1514	385/975	129/324	G/C	Ggt/Tgt		1		1	YBX1	HGNC	HGNC:8014	protein_coding	YES	CCDS470.1	ENSP00000361626	P67809		UPI0000001C6B	NM_004559.3	deleterious(0.02)		5/8		hmmpanther:PTHR11544																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	42696672	42696672	G	T	1	0	0	0	0	1	0	0	0	18030	1348	47	2		2	YBX1	1	42696672	Missense_Mutation	SNP	G	C3N-00580_TP	1112490	42696672	206259750	27	19487											
MAST2	0	.	GRCh38	chr1	45824557	45824557	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgattgtaagttatggagagGaaacctggccagctctctat	11	12	11	7	0	1	2	0	1	1	1	2	4	1	3	2	3	2	3	2	3	4	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.302G>C	p.Gly101Ala	p.G101A	ENST00000361297	2/29	123	85	38	135	135	0	strelka-varscan-mutect	MAST2,missense_variant,p.Gly101Ala,ENST00000361297,NM_001324320.1,NM_001319245.1,NM_015112.2;MAST2,non_coding_transcript_exon_variant,,ENST00000470809,;	C	ENST00000361297	Transcript	missense_variant	585/5738	302/5397	101/1798	G/A	gGa/gCa		1		1	MAST2	HGNC	HGNC:19035	protein_coding	YES	CCDS41326.1	ENSP00000354671	Q6P0Q8		UPI0000458AEB	NM_001324320.1,NM_001319245.1,NM_015112.2	deleterious_low_confidence(0.01)		2/29																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	45824557	45824557	G	C	1	0	0	0	0	1	0	0	0	9251	1174	41	4		4	MAST2	1	45824557	Missense_Mutation	SNP	G	C3N-00580_TP	3127885	45824557	203131865	28	19488											
CYP4X1	0	.	GRCh38	chr1	47046498	47046498	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgagatgtcgtacaccacaAtgtgcatcaaggagacgtgc	12	8	12	9	2	1	2	1	1	0	2	2	4	1	2	1	1	3	2	1	1	3	1	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1105A>T	p.Met369Leu	p.M369L	ENST00000371901	9/12	244	122	122	199	199	0	strelka-varscan-mutect	CYP4X1,missense_variant,p.Met369Leu,ENST00000371901,NM_178033.1;	T	ENST00000371901	Transcript	missense_variant	1355/2357	1105/1530	369/509	M/L	Atg/Ttg		1		1	CYP4X1	HGNC	HGNC:20244	protein_coding	YES	CCDS544.1	ENSP00000360968	Q8N118		UPI000003F043	NM_178033.1	tolerated(0.06)		9/12		Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00385,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF55,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		rs916282190	.												T	3	4	62	47046498	47046498	A	T	1	0	0	0	0	1	0	0	0	3996	101	4	4		4	CYP4X1	1	47046498	Missense_Mutation	SNP	A	C3N-00580_TP	1221941	47046498	201909924	29	19489											
TTC39A	0	.	GRCh38	chr1	51302517	51302517	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggctcaccttagggtaccGgttcaggtagggcttcaaga	8	9	15	9	1	3	1	3	0	0	1	3	1	3	1	2	6	1	5	2	6	4	5	rs367944910		C3N-00580_TP	C3N-00580_NB	G	G																c.928C>A	p.=	p.R310R	ENST00000447632	10/18	337	195	142	397	397	0	strelka-varscan-mutect	TTC39A,synonymous_variant,p.=,ENST00000262676,;TTC39A,synonymous_variant,p.=,ENST00000447632,NM_001297665.1;TTC39A,synonymous_variant,p.=,ENST00000413473,NM_001144832.2;TTC39A,synonymous_variant,p.=,ENST00000262675,NM_001297664.1,NM_001297663.1;TTC39A,synonymous_variant,p.=,ENST00000371750,NM_001080494.3;TTC39A,synonymous_variant,p.=,ENST00000371747,NM_001297662.1;TTC39A,synonymous_variant,p.=,ENST00000439482,;TTC39A,synonymous_variant,p.=,ENST00000411642,;TTC39A,upstream_gene_variant,,ENST00000530004,NM_001297667.1,NM_001297666.1;TTC39A,downstream_gene_variant,,ENST00000422925,;TTC39A,downstream_gene_variant,,ENST00000380849,;TTC39A,non_coding_transcript_exon_variant,,ENST00000431927,;TTC39A,non_coding_transcript_exon_variant,,ENST00000524442,;TTC39A,upstream_gene_variant,,ENST00000534098,;	T	ENST00000447632	Transcript	synonymous_variant	977/2790	928/1842	310/613	R	Cgg/Agg	rs367944910	1		-1	TTC39A	HGNC	HGNC:18657	protein_coding	YES	CCDS72790.1	ENSP00000393952	Q5SRH9		UPI000046FE6B	NM_001297665.1			10/18		Gene3D:1.25.40.10,Pfam_domain:PF10300,hmmpanther:PTHR31859,hmmpanther:PTHR31859:SF3,Superfamily_domains:SSF81901																	LOW	1	SNV	1			1										PASS		rs367944910	.												T	2	4	62	51302517	51302517	G	T	1	0	0	0	0	0	0	0	1	17216	1115	39	1		1	TTC39A	1	51302517	Silent	SNP	G	C3N-00580_TP	4256019	51302517	197653905	30	19490											
NRDC	0	.	GRCh38	chr1	51834102	51834102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttgaggcattatcactacCcccatgcttcttcaggaagg	10	11	9	11	0	3	1	2	1	1	0	3	2	3	2	2	3	2	3	2	3	3	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.985G>T	p.Gly329Cys	p.G329C	ENST00000354831	6/33	211	151	60	241	241	0	strelka-varscan-mutect	NRDC,missense_variant,p.Gly329Cys,ENST00000354831,NM_002525.2;NRDC,missense_variant,p.Gly261Cys,ENST00000544028,;NRDC,missense_variant,p.Gly261Cys,ENST00000352171,NM_001101662.1;NRDC,missense_variant,p.Gly197Cys,ENST00000539524,NM_001242361.1;NRDC,downstream_gene_variant,,ENST00000390787,;NRDC,non_coding_transcript_exon_variant,,ENST00000485608,;NRDC,non_coding_transcript_exon_variant,,ENST00000475715,;NRDC,upstream_gene_variant,,ENST00000473805,;	A	ENST00000354831	Transcript	missense_variant	1175/3895	985/3660	329/1219	G/C	Ggt/Tgt		1		-1	NRDC	HGNC	HGNC:7995	protein_coding	YES	CCDS559.1	ENSP00000346890		B1AKJ5	UPI0000458A53	NM_002525.2	deleterious(0)		6/33		hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF123,Gene3D:3.30.830.10,Pfam_domain:PF00675,Superfamily_domains:SSF63411																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	51834102	51834102	C	A	1	0	0	0	0	1	0	0	0	10701	623	22	2		2	NRDC	1	51834102	Missense_Mutation	SNP	C	C3N-00580_TP	531585	51834102	197122320	31	19491											
TTC4	0	.	GRCh38	chr1	54731622	54731622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtctagatggccagggcaGgctgagctggcctgtgctct	6	9	16	10	0	2	2	0	1	2	1	2	3	2	2	2	4	2	4	2	4	1	1			C3N-00580_TP	C3N-00580_NB	G	G																c.818G>T	p.Arg273Met	p.R273M	ENST00000371281	7/10	367	209	158	443	443	0	strelka-varscan-mutect	TTC4,missense_variant,p.Arg273Met,ENST00000371281,NM_004623.4;TTC4,non_coding_transcript_exon_variant,,ENST00000371284,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000425300,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000414150,;MROH7-TTC4,non_coding_transcript_exon_variant,,ENST00000460155,;MROH7-TTC4,intron_variant,,ENST00000606515,;	T	ENST00000371281	Transcript	missense_variant	905/2395	818/1164	273/387	R/M	aGg/aTg	COSM910943	1		1	TTC4	HGNC	HGNC:12394	protein_coding	YES	CCDS596.1	ENSP00000360329	O95801		UPI000013E156	NM_004623.4	tolerated(0.19)		7/10		hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF365											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	62	54731622	54731622	G	T	1	0	0	0	0	1	0	0	0	17219	1000	35	2		2	TTC4	1	54731622	Missense_Mutation	SNP	G	C3N-00580_TP	2897520	54731622	194224800	32	19492											
L1TD1	0	.	GRCh38	chr1	62210040	62210040	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaagaagaggcttcAgggttggaggaggatgaggc	14	5	19	3	0	1	5	1	1	0	4	1	9	1	8	0	6	0	2	0	6	4	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1266A>T	p.=	p.S422S	ENST00000498273	4/4	240	132	108	245	244	1	strelka-varscan-mutect	L1TD1,synonymous_variant,p.=,ENST00000498273,NM_001164835.1,NM_019079.4;Y_RNA,upstream_gene_variant,,ENST00000363304,;RP5-1155K23.4,upstream_gene_variant,,ENST00000450606,;	T	ENST00000498273	Transcript	synonymous_variant	1561/3849	1266/2598	422/865	S	tcA/tcT		1		1	L1TD1	HGNC	HGNC:25595	protein_coding	YES	CCDS619.1	ENSP00000419901	Q5T7N2		UPI000013E18E	NM_001164835.1,NM_019079.4			4/4		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	62210040	62210040	A	T	1	0	0	0	0	0	0	0	1	8490	175	7	4		4	L1TD1	1	62210040	Silent	SNP	A	C3N-00580_TP	7478418	62210040	186746382	33	19493											
DOCK7	0	.	GRCh38	chr1	62494354	62494354	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaagtgctgctgagTggactagacactgtgcagct	11	8	12	10	0	0	2	0	1	0	1	0	3	0	3	0	1	6	5	0	1	3	1	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.5111A>T	p.His1704Leu	p.H1704L	ENST00000454575	40/49	244	202	42	285	284	1	strelka-varscan-mutect	DOCK7,missense_variant,p.His1704Leu,ENST00000251157,;DOCK7,missense_variant,p.His1704Leu,ENST00000454575,NM_001271999.1;DOCK7,missense_variant,p.His1682Leu,ENST00000340370,NM_033407.3;DOCK7,missense_variant,p.His1713Leu,ENST00000635253,;DOCK7,missense_variant,p.His1673Leu,ENST00000634264,NM_001272000.1;DOCK7,missense_variant,p.His1673Leu,ENST00000635123,NM_001272001.1;DOCK7,missense_variant,p.His804Leu,ENST00000637255,;DOCK7,downstream_gene_variant,,ENST00000637144,;DOCK7,3_prime_UTR_variant,,ENST00000637208,;DOCK7,non_coding_transcript_exon_variant,,ENST00000635983,;DOCK7,non_coding_transcript_exon_variant,,ENST00000479983,;DOCK7,upstream_gene_variant,,ENST00000635088,;	A	ENST00000454575	Transcript	missense_variant	5122/6985	5111/6390	1704/2129	H/L	cAc/cTc		1		-1	DOCK7	HGNC	HGNC:19190	protein_coding	YES	CCDS60156.1	ENSP00000413583	Q96N67	H0Y7L2	UPI0000E45660	NM_001271999.1	deleterious(0)		40/49		PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317,Pfam_domain:PF06920																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	62494354	62494354	T	A	1	0	0	0	0	1	0	0	0	4507	1696	59	4		4	DOCK7	1	62494354	Missense_Mutation	SNP	T	C3N-00580_TP	284314	62494354	186462068	34	19494											
ROR1	0	.	GRCh38	chr1	64177527	64177527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggccatctctatctcccaGgcatggaccatgctcagctg	9	9	9	14	0	3	0	1	0	2	0	5	1	3	1	3	3	2	3	3	3	2	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1486G>T	p.Gly496Cys	p.G496C	ENST00000371079	9/9	334	207	127	356	356	0	strelka-varscan-mutect	ROR1,missense_variant,p.Gly496Cys,ENST00000371079,NM_005012.3;ROR1,missense_variant,p.Gly441Cys,ENST00000545203,;	T	ENST00000371079	Transcript	missense_variant	1861/5832	1486/2814	496/937	G/C	Ggc/Tgc		1		1	ROR1	HGNC	HGNC:10256	protein_coding	YES	CCDS626.1	ENSP00000360120	Q01973		UPI00001AF82C	NM_005012.3	deleterious(0)		9/9		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF134,Pfam_domain:PF07714,PIRSF_domain:PIRSF000624,Gene3D:3.30.200.20,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	64177527	64177527	G	T	1	0	0	0	0	1	0	0	0	13703	1000	35	2		2	ROR1	1	64177527	Missense_Mutation	SNP	G	C3N-00580_TP	1683173	64177527	184778895	35	19495											
SSX2IP	0	.	GRCh38	chr1	84658441	84658441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actctctctgcttagttcccCggcatcttcttcaacatcgg	6	14	6	15	2	5	0	1	0	4	0	8	0	6	0	2	2	2	3	2	2	2	4			C3N-00580_TP	C3N-00580_NB	C	C																c.955G>T	p.Gly319Trp	p.G319W	ENST00000342203	9/14	168	149	19	176	176	0	strelka-varscan-mutect	SSX2IP,missense_variant,p.Gly292Trp,ENST00000437941,NM_001166294.1,NM_001166295.1;SSX2IP,missense_variant,p.Gly319Trp,ENST00000342203,NM_014021.3,NM_001166293.1,NM_001166417.1;SSX2IP,missense_variant,p.Gly292Trp,ENST00000605755,;SSX2IP,intron_variant,,ENST00000603677,;SSX2IP,missense_variant,p.Gly319Trp,ENST00000481102,;SSX2IP,missense_variant,p.Gly315Trp,ENST00000476905,;SSX2IP,non_coding_transcript_exon_variant,,ENST00000460500,;SSX2IP,upstream_gene_variant,,ENST00000459708,;	A	ENST00000342203	Transcript	missense_variant	1219/5835	955/1845	319/614	G/W	Ggg/Tgg	COSM4144203,COSM4144204	1		-1	SSX2IP	HGNC	HGNC:16509	protein_coding	YES	CCDS699.1	ENSP00000340279	Q9Y2D8		UPI00000728CA	NM_014021.3,NM_001166293.1,NM_001166417.1	tolerated(0.05)		9/14		hmmpanther:PTHR21736,hmmpanther:PTHR21736:SF21											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1171194235	.												A	3	1	62	84658441	84658441	C	A	1	0	0	0	0	1	0	0	0	15583	652	23	1		1	SSX2IP	1	84658441	Missense_Mutation	SNP	C	C3N-00580_TP	20480914	84658441	164297981	36	19496											
GBP3	0	.	GRCh38	chr1	89013183	89013183	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtactacgaaggggacttAcgaggcccattgaccttgat	12	9	11	9	2	0	2	0	2	0	0	0	5	0	3	2	3	3	1	2	3	5	5	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.868+2T>C		p.X290_splice	ENST00000370481		152	137	15	118	118	0	strelka-varscan-mutect	GBP3,splice_donor_variant,,ENST00000370481,NM_018284.2;GBP3,intron_variant,,ENST00000445969,;GBP3,upstream_gene_variant,,ENST00000461384,;GBP3,downstream_gene_variant,,ENST00000564665,;GBP3,downstream_gene_variant,,ENST00000475853,;GBP3,splice_donor_variant,,ENST00000370482,;GBP3,splice_donor_variant,,ENST00000493594,;GBP3,splice_donor_variant,,ENST00000489444,;GBP3,splice_donor_variant,,ENST00000235878,;GBP3,downstream_gene_variant,,ENST00000568006,;	G	ENST00000370481	Transcript	splice_donor_variant	-/3067	868/1788	290/595				1		-1	GBP3	HGNC	HGNC:4184	protein_coding	YES	CCDS717.2	ENSP00000359512	Q9H0R5		UPI0000204D81	NM_018284.2				6/10																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	62	89013183	89013183	A	G	1	0	0	0	0	0	0	1	0	6145	405	14	5		5	GBP3	1	89013183	Splice_Site	SNP	A	C3N-00580_TP	4354742	89013183	159943239	37	19497											
LRRC8C	0	.	GRCh38	chr1	89713811	89713811	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatggactcctgataaacTgaggcagaagctacagacaa	16	6	10	9	1	0	4	0	2	0	2	1	6	1	5	1	2	3	2	1	2	6	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1241T>G	p.Leu414Arg	p.L414R	ENST00000370454	3/3	229	206	23	170	170	0	strelka-varscan-mutect	LRRC8C,missense_variant,p.Leu414Arg,ENST00000370454,NM_032270.4;LRRC8C,intron_variant,,ENST00000479252,;RP11-302M6.4,intron_variant,,ENST00000370453,;	G	ENST00000370454	Transcript	missense_variant	1496/7218	1241/2412	414/803	L/R	cTg/cGg		1		1	LRRC8C	HGNC	HGNC:25075	protein_coding	YES	CCDS725.1	ENSP00000359483	Q8TDW0		UPI000013E814	NM_032270.4	deleterious(0)		3/3		hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF250																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	89713811	89713811	T	G	1	0	0	0	0	1	0	0	0	8927	1580	55	5		5	LRRC8C	1	89713811	Missense_Mutation	SNP	T	C3N-00580_TP	700628	89713811	159242611	38	19498											
DPYD	0	.	GRCh38	chr1	97234995	97234995	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataggtctgattgctgtccCtacacaaaatcagaataatc	15	11	6	9	0	2	2	1	1	1	1	4	2	3	2	1	1	2	1	1	1	7	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2300-1G>T		p.X767_splice	ENST00000370192		410	228	182	460	460	0	strelka-varscan-mutect	DPYD,splice_acceptor_variant,,ENST00000370192,NM_000110.3;DPYD-AS1,intron_variant,,ENST00000422980,;	A	ENST00000370192	Transcript	splice_acceptor_variant	-/4412	2300/3078	767/1025				1		-1	DPYD	HGNC	HGNC:3012	protein_coding	YES	CCDS30777.1	ENSP00000359211	Q12882		UPI00000727C7	NM_000110.3				18/22																		HIGH	1	SNV	1			1										PASS		rs984858263	.												A	5	1	62	97234995	97234995	C	A	1	0	0	0	0	0	0	1	0	4560	695	24	2		2	DPYD	1	97234995	Splice_Site	SNP	C	C3N-00580_TP	7521184	97234995	151721427	39	19499											
GPR88	0	.	GRCh38	chr1	100539852	100539852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgctgcgtcttcctgctgGccacgcagccactggtgtgg	3	11	13	14	2	2	0	0	0	2	0	3	0	3	0	3	3	4	3	3	3	0	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.886G>T	p.Ala296Ser	p.A296S	ENST00000315033	2/2	173	94	79	192	192	0	strelka-varscan-mutect	GPR88,missense_variant,p.Ala296Ser,ENST00000315033,NM_022049.2;	T	ENST00000315033	Transcript	missense_variant	1325/3491	886/1155	296/384	A/S	Gcc/Tcc		1		1	GPR88	HGNC	HGNC:4539	protein_coding	YES	CCDS772.1	ENSP00000314223	Q9GZN0		UPI00001403B3	NM_022049.2	tolerated(0.93)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF233,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	100539852	100539852	G	T	1	0	0	0	0	1	0	0	0	6598	1203	42	2		2	GPR88	1	100539852	Missense_Mutation	SNP	G	C3N-00580_TP	3304857	100539852	148416570	40	19500											
VCAM1	0	.	GRCh38	chr1	100720575	100720575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacaggctgtgagtcccCatttttctcttggagaaccc	8	11	8	14	0	1	2	0	1	1	1	3	3	2	2	4	2	1	1	4	2	1	3			C3N-00580_TP	C3N-00580_NB	C	C																c.164C>A	p.Pro55Gln	p.P55Q	ENST00000294728	2/9	298	191	107	289	289	0	strelka-varscan-mutect	VCAM1,missense_variant,p.Pro55Gln,ENST00000294728,NM_001078.3;VCAM1,missense_variant,p.Pro55Gln,ENST00000347652,NM_080682.2;VCAM1,missense_variant,p.Pro55Gln,ENST00000370115,;VCAM1,intron_variant,,ENST00000370119,NM_001199834.1;	A	ENST00000294728	Transcript	missense_variant	265/3083	164/2220	55/739	P/Q	cCa/cAa	COSM3470315	1		1	VCAM1	HGNC	HGNC:12663	protein_coding	YES	CCDS773.1	ENSP00000294728	P19320		UPI0000000E06	NM_001078.3	deleterious(0)		2/9		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF729,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	62	100720575	100720575	C	A	1	0	0	0	0	1	0	0	0	17682	594	21	2		2	VCAM1	1	100720575	Missense_Mutation	SNP	C	C3N-00580_TP	180723	100720575	148235847	41	19501											
S1PR1	0	.	GRCh38	chr1	101239283	101239283	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggagtagcctacacagCtaacctgctcttgtctgggg	8	9	13	11	0	2	0	0	0	2	0	2	1	2	1	2	4	5	4	2	4	3	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.299C>A	p.Ala100Asp	p.A100D	ENST00000305352	2/2	183	96	87	164	163	1	strelka-varscan-mutect	S1PR1,missense_variant,p.Ala100Asp,ENST00000305352,NM_001320730.1,NM_001400.4;RP4-575N6.5,upstream_gene_variant,,ENST00000561748,;RP4-575N6.4,upstream_gene_variant,,ENST00000432195,;S1PR1,non_coding_transcript_exon_variant,,ENST00000475821,;S1PR1,downstream_gene_variant,,ENST00000475289,;	A	ENST00000305352	Transcript	missense_variant	674/2909	299/1149	100/382	A/D	gCt/gAt		1		1	S1PR1	HGNC	HGNC:3165	protein_coding	YES	CCDS777.1	ENSP00000305416	P21453		UPI0000050421	NM_001320730.1,NM_001400.4	deleterious(0)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR01523,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF16,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	101239283	101239283	C	A	1	0	0	0	0	1	0	0	0	14052	797	28	2		2	S1PR1	1	101239283	Missense_Mutation	SNP	C	C3N-00580_TP	518708	101239283	147717139	42	19502											
COL11A1	0	.	GRCh38	chr1	102978906	102978906	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgcacctcttgaacctCgaggaccctgcagatgagaa	10	9	9	13	1	2	3	0	2	2	2	3	6	2	4	3	1	3	2	3	1	2	2	rs779814887		C3N-00580_TP	C3N-00580_NB	C	C																c.2663G>T	p.Arg888Leu	p.R888L	ENST00000370096	34/67	579	352	227	538	537	1	strelka-varscan-mutect	COL11A1,missense_variant,p.Arg900Leu,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Arg888Leu,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Arg849Leu,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Arg772Leu,ENST00000512756,NM_080630.3;COL11A1,synonymous_variant,p.=,ENST00000635193,;	A	ENST00000370096	Transcript	missense_variant	2976/7286	2663/5421	888/1806	R/L	cGa/cTa	rs779814887,COSM4759632,COSM4759633	1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0.01)		34/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs779814887	.												A	3	1	62	102978906	102978906	C	A	1	0	0	0	0	1	0	0	0	3455	884	31	1		1	COL11A1	1	102978906	Missense_Mutation	SNP	C	C3N-00580_TP	1739623	102978906	145977516	43	19503											
COL11A1	0	.	GRCh38	chr1	103017883	103017883	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggacccataataccCtatagagaaacacaccatat	16	7	6	12	0	0	1	0	0	0	1	0	4	0	3	4	2	2	0	4	2	6	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1351-1G>A		p.X451_splice	ENST00000370096		283	230	53	276	276	0	strelka-varscan-mutect	COL11A1,splice_acceptor_variant,,ENST00000358392,NM_080629.2;COL11A1,splice_acceptor_variant,,ENST00000370096,NM_001854.3;COL11A1,splice_acceptor_variant,,ENST00000353414,NM_001190709.1;COL11A1,splice_acceptor_variant,,ENST00000512756,NM_080630.3;COL11A1,splice_acceptor_variant,,ENST00000427239,;COL11A1,splice_acceptor_variant,,ENST00000635193,;	T	ENST00000370096	Transcript	splice_acceptor_variant	-/7286	1351/5421	451/1806				1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3				10/66																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	62	103017883	103017883	C	T	1	0	0	0	0	0	0	1	0	3455	695	24	3		3	COL11A1	1	103017883	Splice_Site	SNP	C	C3N-00580_TP	38977	103017883	145938539	44	19504											
WDR47	0	.	GRCh38	chr1	109002323	109002323	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtatatctgccgctgtTgctccttctgttctaaatgc	5	17	9	10	1	3	0	0	0	3	0	4	0	4	0	2	1	3	6	2	1	4	7	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1358A>T	p.Gln453Leu	p.Q453L	ENST00000400794	7/15	220	199	21	215	215	0	strelka-varscan-mutect	WDR47,missense_variant,p.Gln446Leu,ENST00000369965,NM_014969.5;WDR47,missense_variant,p.Gln445Leu,ENST00000369962,NM_001142551.1;WDR47,missense_variant,p.Gln417Leu,ENST00000357672,;WDR47,missense_variant,p.Gln453Leu,ENST00000400794,NM_001142550.1;WDR47,missense_variant,p.Gln417Leu,ENST00000361054,;	A	ENST00000400794	Transcript	missense_variant	1492/4134	1358/2784	453/927	Q/L	cAa/cTa		1		-1	WDR47	HGNC	HGNC:29141	protein_coding	YES	CCDS44186.1	ENSP00000383599	O94967		UPI0001639B05	NM_001142550.1	deleterious(0.01)		7/15		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19863,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	109002323	109002323	T	A	1	0	0	0	0	1	0	0	0	17860	1812	63	4		4	WDR47	1	109002323	Missense_Mutation	SNP	T	C3N-00580_TP	5984440	109002323	139954099	45	19505											
CASQ2	0	.	GRCh38	chr1	115768489	115768489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattaagcccctcttctgccCtgcaagaggacagaaaataa	15	8	7	11	0	2	2	0	0	2	2	2	3	2	3	3	1	3	1	3	1	6	3			C3N-00580_TP	C3N-00580_NB	C	C																c.53G>A	p.Arg18Lys	p.R18K	ENST00000261448	1/11	415	246	169	316	315	1	strelka-varscan-mutect	CASQ2,missense_variant,p.Arg18Lys,ENST00000261448,NM_001232.3;	T	ENST00000261448	Transcript	missense_variant	293/2674	53/1200	18/399	R/K	aGg/aAg	COSM3471840	1		-1	CASQ2	HGNC	HGNC:1513	protein_coding	YES	CCDS884.1	ENSP00000261448	O14958		UPI0000126F16	NM_001232.3	tolerated(0.31)		1/11		Pfam_domain:PF01216,hmmpanther:PTHR10033,hmmpanther:PTHR10033:SF15,Cleavage_site_(Signalp):SignalP-noTM											1						MODERATE	1	SNV	1		1	1										PASS		rs1324526301	.												T	3	4	62	115768489	115768489	C	T	1	0	0	0	0	1	0	0	0	2380	681	24	3		3	CASQ2	1	115768489	Missense_Mutation	SNP	C	C3N-00580_TP	6766166	115768489	133187933	46	19506											
IGSF3	0	.	GRCh38	chr1	116616458	116616458	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgtgctgacaccacacCtacgagggagagaaacacac	13	4	10	14	2	0	2	0	1	0	1	0	5	0	3	3	1	3	2	3	1	2	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.44-1G>T		p.X15_splice	ENST00000369483		70	46	24	54	54	0	strelka-varscan-mutect	IGSF3,splice_acceptor_variant,,ENST00000369483,NM_001542.3;IGSF3,splice_acceptor_variant,,ENST00000369486,NM_001007237.2;IGSF3,splice_acceptor_variant,,ENST00000318837,;IGSF3,splice_acceptor_variant,,ENST00000481589,;	A	ENST00000369483	Transcript	splice_acceptor_variant	-/7326	44/3645	15/1214				1		-1	IGSF3	HGNC	HGNC:5950	protein_coding	YES	CCDS30814.1	ENSP00000358495	O75054		UPI0000140437	NM_001542.3				2/11																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	62	116616458	116616458	C	A	1	0	0	0	0	0	0	1	0	7509	695	24	2		2	IGSF3	1	116616458	Splice_Site	SNP	C	C3N-00580_TP	847969	116616458	132339964	47	19507											
TTF2	0	.	GRCh38	chr1	117098838	117098838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcttctaacaggaatcCatcacttgaagatcaagctt	12	12	7	10	0	4	2	2	1	2	1	5	3	5	3	1	1	2	2	1	1	4	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.3275C>A	p.Pro1092Gln	p.P1092Q	ENST00000369466	22/23	194	152	42	193	193	0	strelka-varscan-mutect	TTF2,missense_variant,p.Pro1092Gln,ENST00000369466,NM_003594.3;TTF2,missense_variant,p.Pro73Gln,ENST00000427271,;MIR942,downstream_gene_variant,,ENST00000401111,;TTF2,non_coding_transcript_exon_variant,,ENST00000480701,;TTF2,non_coding_transcript_exon_variant,,ENST00000492682,;TTF2,non_coding_transcript_exon_variant,,ENST00000463696,;	A	ENST00000369466	Transcript	missense_variant	3319/9462	3275/3489	1092/1162	P/Q	cCa/cAa		1		1	TTF2	HGNC	HGNC:12398	protein_coding	YES	CCDS892.1	ENSP00000358478	Q9UNY4	A0A024R0F1	UPI000013CCE7	NM_003594.3	deleterious(0)		22/23		PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF573,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	117098838	117098838	C	A	1	0	0	0	0	1	0	0	0	17229	608	21	2		2	TTF2	1	117098838	Missense_Mutation	SNP	C	C3N-00580_TP	482380	117098838	131857584	48	19508											
HSD3B1	0	.	GRCh38	chr1	119514471	119514471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctatcgaccgcccttcaaCcgccacatagtcacattgtc	10	9	5	17	3	2	0	2	0	0	0	4	1	2	0	5	0	1	0	5	0	3	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.948C>A	p.Asn316Lys	p.N316K	ENST00000369413	4/4	283	251	32	202	202	0	strelka-varscan-mutect	HSD3B1,missense_variant,p.Asn316Lys,ENST00000369413,NM_000862.2;HSD3B1,missense_variant,p.Asn316Lys,ENST00000528909,;HSD3B1,downstream_gene_variant,,ENST00000531340,;HSD3B1,downstream_gene_variant,,ENST00000492140,;	A	ENST00000369413	Transcript	missense_variant	1093/1676	948/1122	316/373	N/K	aaC/aaA		1		1	HSD3B1	HGNC	HGNC:5217	protein_coding	YES	CCDS903.1	ENSP00000358421	P14060		UPI0000036BD2	NM_000862.2	deleterious(0)		4/4		hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF378,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	119514471	119514471	C	A	1	0	0	0	0	1	0	0	0	7284	506	18	2		2	HSD3B1	1	119514471	Missense_Mutation	SNP	C	C3N-00580_TP	2415633	119514471	129441951	49	19509											
PDE4DIP	0	.	GRCh38	chr1	149004979	149004979	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctctgagcagggacgccgGggctcaacactggctagttc	7	8	14	12	2	2	1	1	1	1	0	3	2	2	2	1	4	3	5	1	4	2	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.3957G>T	p.=	p.R1319R	ENST00000369356	27/44	231	211	20	136	136	0	varscan-mutect	PDE4DIP,synonymous_variant,p.=,ENST00000585156,;PDE4DIP,synonymous_variant,p.=,ENST00000369356,NM_001198834.3;PDE4DIP,synonymous_variant,p.=,ENST00000524974,;PDE4DIP,synonymous_variant,p.=,ENST00000369354,NM_014644.5;PDE4DIP,synonymous_variant,p.=,ENST00000618462,NM_001198832.2;RP4-791M13.5,downstream_gene_variant,,ENST00000531288,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,upstream_gene_variant,,ENST00000479369,;	T	ENST00000369356	Transcript	synonymous_variant	4248/8307	3957/7089	1319/2362	R	cgG/cgT		1		1	PDE4DIP	HGNC	HGNC:15580	protein_coding	YES	CCDS72892.1	ENSP00000358363		A0A0A0MRM1	UPI000292EFC6	NM_001198834.3			27/44																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	149004979	149004979	G	T	1	0	0	0	0	0	0	0	1	11731	1219	43	2		2	PDE4DIP	1	149004979	Silent	SNP	G	C3N-00580_TP	29490508	149004979	99951443	50	19510											
NBPF9	0	.	GRCh38	chr1	149079198	149079198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgtcagctctcgttcctgaGagtgaaccaggactttatat	9	12	10	10	2	2	2	1	2	1	1	4	4	3	3	2	1	2	2	2	1	3	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.302C>T	p.Ser101Phe	p.S101F	ENST00000615421	8/29	168	148	20	96	96	0	varscan-mutect	NBPF9,missense_variant,p.Ser101Phe,ENST00000615421,;NBPF9,missense_variant,p.Ser101Phe,ENST00000621645,;NBPF9,missense_variant,p.Ser101Phe,ENST00000584027,NM_001277444.1;NBPF9,missense_variant,p.Ser101Phe,ENST00000613969,NM_001037501.2;NBPF9,missense_variant,p.Ser101Phe,ENST00000613595,NM_001037675.3;NBPF9,missense_variant,p.Ser101Phe,ENST00000621074,;NBPF9,missense_variant,p.Ser101Phe,ENST00000610300,;NBPF9,upstream_gene_variant,,ENST00000483630,;	A	ENST00000615421	Transcript	missense_variant	1172/5835	302/3336	101/1111	S/F	tCt/tTt		1		-1	NBPF9	HGNC	HGNC:31991	protein_coding	YES	CCDS72896.1	ENSP00000477979		A0A075B761	UPI000292EE30		deleterious(0)		8/29		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	149079198	149079198	G	A	1	0	0	0	0	1	0	0	0	10215	942	33	3		3	NBPF9	1	149079198	Missense_Mutation	SNP	G	C3N-00580_TP	74219	149079198	99877224	51	19511											
CIART	0	.	GRCh38	chr1	150284502	150284502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttttgcagaagccacagatGgggtaagtcccgctggttct	8	11	13	9	1	1	2	0	0	1	2	2	2	2	2	2	3	2	5	2	3	2	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.519G>T	p.Met173Ile	p.M173I	ENST00000290363	3/5	353	205	148	295	295	0	strelka-varscan-mutect	CIART,missense_variant,p.Met173Ile,ENST00000290363,NM_144697.3;CIART,missense_variant,p.Met173Ile,ENST00000369095,NM_001300838.1;CIART,missense_variant,p.Met85Ile,ENST00000369094,NM_001300840.1,NM_001300839.1,NM_001300841.1;CIART,missense_variant,p.Met85Ile,ENST00000417398,;CIART,missense_variant,p.Met85Ile,ENST00000447007,;C1orf54,downstream_gene_variant,,ENST00000369102,NM_001301040.1,NM_001301039.1;C1orf54,downstream_gene_variant,,ENST00000369099,NM_024579.3;C1orf54,downstream_gene_variant,,ENST00000369098,NM_001301042.1;CIART,splice_region_variant,,ENST00000497211,;CIART,splice_region_variant,,ENST00000469255,;	T	ENST00000290363	Transcript	missense_variant,splice_region_variant	968/1746	519/1158	173/385	M/I	atG/atT		1		1	CIART	HGNC	HGNC:25200	protein_coding	YES	CCDS949.1	ENSP00000290363	Q8N365		UPI000000DBBF	NM_144697.3	deleterious(0.03)		3/5		Pfam_domain:PF15673,hmmpanther:PTHR35441																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	150284502	150284502	G	T	1	0	0	0	0	1	0	0	0	3181	1362	47	2		2	CIART	1	150284502	Missense_Mutation	SNP	G	C3N-00580_TP	1205304	150284502	98671920	52	19512											
KPRP	0	.	GRCh38	chr1	152759617	152759617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagcagatccagtgccGcctgccgctccaacagtgct	8	6	10	17	2	0	1	0	0	0	1	2	1	2	1	6	0	6	4	6	0	1	0	rs77368440		C3N-00580_TP	C3N-00580_NB	G	G																c.29G>T	p.Arg10Leu	p.R10L	ENST00000606109	1/1	210	133	77	131	131	0	strelka-varscan-mutect	KPRP,missense_variant,p.Arg10Leu,ENST00000606109,NM_001025231.1;	T	ENST00000606109	Transcript	missense_variant	57/2492	29/1740	10/579	R/L	cGc/cTc	rs77368440,COSM2156689	1		1	KPRP	HGNC	HGNC:31823	protein_coding	YES	CCDS30862.1	ENSP00000475216	Q5T749		UPI0000199942	NM_001025231.1	tolerated(0.12)		1/1		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV			0,1	1										PASS		rs77368440	.												T	3	4	62	152759617	152759617	G	T	1	0	0	0	0	1	0	0	0	8316	1087	38	1		1	KPRP	1	152759617	Missense_Mutation	SNP	G	C3N-00580_TP	2475115	152759617	96196805	53	19513											
KPRP	0	.	GRCh38	chr1	152760725	152760725	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgtagagccacgtccactCccaagcttctgtccaccacg	9	7	7	18	3	1	1	0	0	1	1	4	1	4	1	5	0	2	2	5	0	2	2			C3N-00580_TP	C3N-00580_NB	C	C																c.1137C>A	p.=	p.L379L	ENST00000606109	1/1	434	276	158	411	411	0	strelka-varscan-mutect	KPRP,synonymous_variant,p.=,ENST00000606109,NM_001025231.1;	A	ENST00000606109	Transcript	synonymous_variant	1165/2492	1137/1740	379/579	L	ctC/ctA	COSM2207304,COSM5242816	1		1	KPRP	HGNC	HGNC:31823	protein_coding	YES	CCDS30862.1	ENSP00000475216	Q5T749		UPI0000199942	NM_001025231.1			1/1													1,1						LOW	1	SNV			1,1	1										PASS		rs1191021657	.												A	2	1	62	152760725	152760725	C	A	1	0	0	0	0	0	0	0	1	8316	842	30	2		2	KPRP	1	152760725	Silent	SNP	C	C3N-00580_TP	1108	152760725	96195697	54	19514											
S100A7	0	.	GRCh38	chr1	153457819	153457819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgggtcactggctgcccCcggaacagggcgctgctcca	5	6	15	15	2	1	0	1	0	0	0	2	1	2	1	3	5	3	4	3	5	1	0	rs138333032		C3N-00580_TP	C3N-00580_NB	C	C																c.293G>A	p.Gly98Glu	p.G98E	ENST00000368723	3/3	238	129	109	141	141	0	strelka-varscan-mutect	S100A7,missense_variant,p.Gly98Glu,ENST00000368723,NM_002963.3;S100A7,missense_variant,p.Gly98Glu,ENST00000368722,;	T	ENST00000368723	Transcript	missense_variant	404/479	293/306	98/101	G/E	gGg/gAg	rs138333032,COSM106364	1		-1	S100A7	HGNC	HGNC:10497	protein_coding	YES	CCDS1039.1	ENSP00000357712	P31151		UPI000013D90F	NM_002963.3	tolerated(0.24)		3/3		hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF64,Gene3D:1.10.238.10											1,1						MODERATE	1	SNV	1		0,1	1										PASS		rs138333032	.												T	3	4	62	153457819	153457819	C	T	1	0	0	0	0	1	0	0	0	14042	623	22	3		3	S100A7	1	153457819	Missense_Mutation	SNP	C	C3N-00580_TP	697094	153457819	95498603	55	19515											
NUP210L	0	.	GRCh38	chr1	154060562	154060562	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagagctttctgcttccAtgtaagtgatggtgacaaca	12	11	9	9	0	1	3	0	2	1	1	2	3	2	3	1	1	4	3	1	1	3	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.2828T>A	p.Met943Lys	p.M943K	ENST00000368559	20/40	228	159	69	185	185	0	strelka-varscan-mutect	NUP210L,missense_variant,p.Met943Lys,ENST00000368559,NM_207308.2;NUP210L,missense_variant,p.Met943Lys,ENST00000271854,NM_001159484.1;NUP210L,upstream_gene_variant,,ENST00000368553,;	T	ENST00000368559	Transcript	missense_variant	2900/5889	2828/5667	943/1888	M/K	aTg/aAg		1		-1	NUP210L	HGNC	HGNC:29915	protein_coding	YES	CCDS41399.1	ENSP00000357547	Q5VU65		UPI000023724F	NM_207308.2	tolerated(0.58)		20/40		hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	154060562	154060562	A	T	1	0	0	0	0	1	0	0	0	10826	217	8	4		4	NUP210L	1	154060562	Missense_Mutation	SNP	A	C3N-00580_TP	602743	154060562	94895860	56	19516											
FAM189B	0	.	GRCh38	chr1	155248132	155248132	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacgagtgaccaggccccgaCctggccagctgccctttagg	8	6	12	15	2	0	1	0	1	0	0	0	3	0	1	6	3	3	1	6	3	2	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1751G>T	p.Gly584Val	p.G584V	ENST00000361361	11/12	353	281	72	220	219	1	strelka-varscan-mutect	FAM189B,missense_variant,p.Gly584Val,ENST00000361361,NM_006589.2;FAM189B,missense_variant,p.Gly566Val,ENST00000368368,NM_001267608.1;FAM189B,missense_variant,p.Gly488Val,ENST00000350210,NM_198264.1;FAM189B,missense_variant,p.Gly306Val,ENST00000491082,;FAM189B,intron_variant,,ENST00000621094,;GBA,upstream_gene_variant,,ENST00000327247,NM_001005741.2,NM_001005742.2;GBA,upstream_gene_variant,,ENST00000428024,NM_001171811.1;GBA,upstream_gene_variant,,ENST00000493842,;FAM189B,downstream_gene_variant,,ENST00000472550,;GBA,upstream_gene_variant,,ENST00000473570,;GBA,upstream_gene_variant,,ENST00000467918,;FAM189B,3_prime_UTR_variant,,ENST00000487649,;FAM189B,non_coding_transcript_exon_variant,,ENST00000368366,;FAM189B,downstream_gene_variant,,ENST00000481822,;FAM189B,downstream_gene_variant,,ENST00000497941,;	A	ENST00000361361	Transcript	missense_variant	2261/3082	1751/2007	584/668	G/V	gGt/gTt		1		-1	FAM189B	HGNC	HGNC:1233	protein_coding	YES	CCDS1103.1	ENSP00000354958	P81408		UPI00000710DE	NM_006589.2	tolerated(0.21)		11/12		hmmpanther:PTHR17615,hmmpanther:PTHR17615:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	155248132	155248132	C	A	1	0	0	0	0	1	0	0	0	5369	507	18	2		2	FAM189B	1	155248132	Missense_Mutation	SNP	C	C3N-00580_TP	1187570	155248132	93708290	57	19517											
LMNA	0	.	GRCh38	chr1	156137714	156137714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgaggacgacgaggatgagGatggagatgacctgctccat	11	8	15	7	2	0	4	0	3	0	1	1	10	1	7	2	4	1	1	2	4	0	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1669G>T	p.Asp557Tyr	p.D557Y	ENST00000368300	10/12	884	638	246	584	584	0	strelka-varscan-mutect	LMNA,missense_variant,p.Asp557Tyr,ENST00000368300,NM_170707.3;LMNA,missense_variant,p.Asp557Tyr,ENST00000368301,NM_001282625.1,NM_005572.3;LMNA,missense_variant,p.Asp557Tyr,ENST00000368299,NM_001282626.1;LMNA,missense_variant,p.Asp458Tyr,ENST00000473598,;LMNA,missense_variant,p.Asp445Tyr,ENST00000448611,NM_001257374.2;LMNA,missense_variant,p.Asp472Tyr,ENST00000361308,;LMNA,missense_variant,p.Asp476Tyr,ENST00000368297,NM_001282624.1;LMNA,intron_variant,,ENST00000347559,NM_170708.3;LMNA,intron_variant,,ENST00000508500,;LMNA,downstream_gene_variant,,ENST00000504687,;LMNA,non_coding_transcript_exon_variant,,ENST00000496738,;LMNA,downstream_gene_variant,,ENST00000459904,;LMNA,downstream_gene_variant,,ENST00000469565,;LMNA,downstream_gene_variant,,ENST00000502751,;LMNA,downstream_gene_variant,,ENST00000470199,;LMNA,downstream_gene_variant,,ENST00000502357,;LMNA,non_coding_transcript_exon_variant,,ENST00000498722,;LMNA,non_coding_transcript_exon_variant,,ENST00000506981,;LMNA,downstream_gene_variant,,ENST00000368298,;LMNA,downstream_gene_variant,,ENST00000515459,;LMNA,downstream_gene_variant,,ENST00000515824,;	T	ENST00000368300	Transcript	missense_variant	1881/3190	1669/1995	557/664	D/Y	Gat/Tat		1		1	LMNA	HGNC	HGNC:6636	protein_coding	YES	CCDS1129.1	ENSP00000357283	P02545		UPI000012E20D	NM_170707.3	deleterious(0.01)		10/12		Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF158																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	156137714	156137714	G	T	1	0	0	0	0	1	0	0	0	8772	1174	41	2		2	LMNA	1	156137714	Missense_Mutation	SNP	G	C3N-00580_TP	889582	156137714	92818708	58	19518											
RHBG	0	.	GRCh38	chr1	156382804	156382804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcagtgccacgtcacaggCcatgcaccagctcttcgggc	7	6	12	16	3	2	0	1	0	1	0	3	0	2	0	3	2	3	3	3	2	0	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1169C>G	p.Ala390Gly	p.A390G	ENST00000537040	8/10	494	463	31	372	372	0	strelka-varscan-mutect	RHBG,missense_variant,p.Ala390Gly,ENST00000537040,NM_001256395.1,NM_020407.4,NM_001256396.1;RHBG,non_coding_transcript_exon_variant,,ENST00000494874,;RHBG,3_prime_UTR_variant,,ENST00000620376,;RHBG,3_prime_UTR_variant,,ENST00000451864,;RHBG,3_prime_UTR_variant,,ENST00000613460,;RHBG,3_prime_UTR_variant,,ENST00000612897,;RHBG,non_coding_transcript_exon_variant,,ENST00000618120,;RHBG,non_coding_transcript_exon_variant,,ENST00000622297,;	G	ENST00000537040	Transcript	missense_variant	1207/1789	1169/1377	390/458	A/G	gCc/gGc		1		1	RHBG	HGNC	HGNC:14572	protein_coding	YES		ENSP00000441197	Q9H310		UPI000004F267	NM_001256395.1,NM_020407.4,NM_001256396.1	tolerated(1)		8/10		Superfamily_domains:0044218,Gene3D:1.10.3430.10,Pfam_domain:PF00909,hmmpanther:PTHR11730,hmmpanther:PTHR11730:SF42																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	156382804	156382804	C	G	1	0	0	0	0	1	0	0	0	13496	739	26	4		4	RHBG	1	156382804	Missense_Mutation	SNP	C	C3N-00580_TP	245090	156382804	92573618	59	19519											
NTRK1	0	.	GRCh38	chr1	156861011	156861011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcctgctggcttggcTgatactggcatctgcgggcg	4	9	17	11	2	1	1	0	1	1	0	1	1	1	1	1	5	4	5	1	5	1	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.77T>C	p.Leu26Pro	p.L26P	ENST00000524377	1/17	442	310	132	333	333	0	strelka-varscan-mutect	NTRK1,missense_variant,p.Leu26Pro,ENST00000368196,NM_001012331.1;NTRK1,missense_variant,p.Leu26Pro,ENST00000358660,;NTRK1,missense_variant,p.Leu26Pro,ENST00000524377,NM_002529.3;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;INSRR,upstream_gene_variant,,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000489021,;NTRK1,non_coding_transcript_exon_variant,,ENST00000533630,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;	C	ENST00000524377	Transcript	missense_variant	118/2432	77/2391	26/796	L/P	cTg/cCg		1		1	NTRK1	HGNC	HGNC:8031	protein_coding	YES	CCDS1161.1	ENSP00000431418	P04629		UPI000013D5D3	NM_002529.3	deleterious(0.04)		1/17		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF370																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	156861011	156861011	T	C	1	0	0	0	0	1	0	0	0	10772	1580	55	5		5	NTRK1	1	156861011	Missense_Mutation	SNP	T	C3N-00580_TP	478207	156861011	92095411	60	19520											
CD1E	0	.	GRCh38	chr1	158356081	158356081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaaacacagcagtctagggGgccatgatctaatcatccat	13	9	9	10	0	3	2	1	2	2	0	4	2	4	2	2	2	2	1	2	2	3	2	rs772268165		C3N-00580_TP	C3N-00580_NB	G	G																c.880G>T	p.Gly294Cys	p.G294C	ENST00000368167	4/6	152	92	60	93	93	0	strelka-varscan-mutect	CD1E,missense_variant,p.Gly195Cys,ENST00000444681,NM_001185114.1;CD1E,missense_variant,p.Gly294Cys,ENST00000368160,NM_001042583.2;CD1E,missense_variant,p.Gly294Cys,ENST00000368167,NM_030893.3;CD1E,missense_variant,p.Gly105Cys,ENST00000368166,NM_001042586.2;CD1E,missense_variant,p.Gly204Cys,ENST00000368165,NM_001185107.1;CD1E,missense_variant,p.Gly204Cys,ENST00000368156,NM_001185115.1;CD1E,missense_variant,p.Gly105Cys,ENST00000452291,NM_001185112.1;CD1E,intron_variant,,ENST00000368161,NM_001042584.2;CD1E,intron_variant,,ENST00000368163,NM_001042585.2;CD1E,intron_variant,,ENST00000368162,;CD1E,intron_variant,,ENST00000368164,NM_001042587.2;CD1E,intron_variant,,ENST00000368155,NM_001185108.1;CD1E,intron_variant,,ENST00000368154,NM_001185113.1;CD1E,intron_variant,,ENST00000368157,NM_001185110.1;CD1E,downstream_gene_variant,,ENST00000464822,;	T	ENST00000368167	Transcript	missense_variant	1119/1458	880/1167	294/388	G/C	Ggc/Tgc	rs772268165	1		1	CD1E	HGNC	HGNC:1638	protein_coding	YES	CCDS41417.1	ENSP00000357149	P15812		UPI000046F8C2	NM_030893.3	deleterious(0)		4/6		hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF146,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs772268165	.												T	3	4	62	158356081	158356081	G	T	1	0	0	0	0	1	0	0	0	2681	1232	43	2		2	CD1E	1	158356081	Missense_Mutation	SNP	G	C3N-00580_TP	1495070	158356081	90600341	61	19521											
SPTA1	0	.	GRCh38	chr1	158647594	158647594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatttaggctctccttacGatcctttgtacgcccctgca	6	14	6	15	2	2	0	1	0	1	0	4	1	3	0	4	1	3	3	4	1	3	5	rs199685020		C3N-00580_TP	C3N-00580_NB	G	G																c.3841C>A	p.Arg1281Ser	p.R1281S	ENST00000368147	27/52	693	444	249	457	456	1	strelka-varscan-mutect	SPTA1,missense_variant,p.Arg1281Ser,ENST00000368147,NM_003126.2;	T	ENST00000368147	Transcript	missense_variant	4022/7999	3841/7260	1281/2419	R/S	Cgt/Agt	rs199685020,COSM229892	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0)		27/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs199685020	.												T	3	4	62	158647594	158647594	G	T	1	0	0	0	0	1	0	0	0	15472	1058	37	1		1	SPTA1	1	158647594	Missense_Mutation	SNP	G	C3N-00580_TP	291513	158647594	90308828	62	19522											
AIM2	0	.	GRCh38	chr1	159066183	159066183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaattccttttctgtagcCactgtagcatgaaacatctc	12	13	6	10	0	2	2	0	1	2	1	4	2	3	2	2	0	3	3	2	0	5	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.543G>A	p.=	p.V181V	ENST00000368130	4/6	523	382	141	286	286	0	strelka-varscan-mutect	AIM2,synonymous_variant,p.=,ENST00000368130,NM_004833.1;AIM2,synonymous_variant,p.=,ENST00000368129,;AIM2,intron_variant,,ENST00000481829,;AIM2,downstream_gene_variant,,ENST00000411768,;	T	ENST00000368130	Transcript	synonymous_variant	832/1529	543/1032	181/343	V	gtG/gtA		1		-1	AIM2	HGNC	HGNC:357	protein_coding	YES	CCDS1181.1	ENSP00000357112	O14862		UPI000012573B	NM_004833.1			4/6		PROSITE_profiles:PS50834,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF17,Pfam_domain:PF02760,Gene3D:2.40.50.140,Superfamily_domains:SSF159141																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	159066183	159066183	C	T	1	0	0	0	0	0	0	0	1	509	581	21	3		3	AIM2	1	159066183	Silent	SNP	C	C3N-00580_TP	418589	159066183	89890239	63	19523											
ACKR1	0	.	GRCh38	chr1	159205851	159205851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggctactgtgtctggtatGgctcagcctttgcccaggct	4	13	13	11	0	2	0	1	0	1	0	2	0	2	0	2	4	3	4	2	4	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.418G>T	p.Gly140Cys	p.G140C	ENST00000368121	1/1	231	140	91	115	115	0	strelka-varscan-mutect	ACKR1,missense_variant,p.Gly138Cys,ENST00000537147,;ACKR1,missense_variant,p.Gly138Cys,ENST00000368122,NM_002036.3;ACKR1,missense_variant,p.Gly140Cys,ENST00000368121,NM_001122951.2;ACKR1,missense_variant,p.Gly140Cys,ENST00000435307,;CADM3,downstream_gene_variant,,ENST00000368125,NM_001127173.1;CADM3,downstream_gene_variant,,ENST00000368124,NM_021189.3;CADM3-AS1,intron_variant,,ENST00000609696,;CADM3-AS1,upstream_gene_variant,,ENST00000415675,;	T	ENST00000368121	Transcript	missense_variant	593/1240	418/1017	140/338	G/C	Ggc/Tgc		1		1	ACKR1	HGNC	HGNC:4035	protein_coding	YES	CCDS44252.1	ENSP00000357103	Q16570	Q5Y7A1	UPI000013E1B0	NM_001122951.2	deleterious(0.03)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR14181,Prints_domain:PR01559																	MODERATE		SNV				1										PASS		.	.												T	3	4	62	159205851	159205851	G	T	1	0	0	0	0	1	0	0	0	181	1348	47	2		2	ACKR1	1	159205851	Missense_Mutation	SNP	G	C3N-00580_TP	139668	159205851	89750571	64	19524											
ITLN1	0	.	GRCh38	chr1	160879414	160879414	+	Missense_Mutation	SNP	C	C	A																															caaatcccgcagtgaattccCctgaaaacaagaggcagaaa																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.686G>T	p.Arg229Leu	p.R229L	ENST00000326245	7/8	235	163	72	145	145	0	strelka-varscan-mutect	ITLN1,missense_variant,p.Arg229Leu,ENST00000326245,NM_017625.2;ITLN1,splice_region_variant,,ENST00000487531,;ITLN1,downstream_gene_variant,,ENST00000464077,;	A	ENST00000326245	Transcript	missense_variant,splice_region_variant	802/1183	686/942	229/313	R/L	cGg/cTg		1		-1	ITLN1	HGNC	HGNC:18259	protein_coding	YES	CCDS1211.1	ENSP00000323587	Q8WWA0		UPI0000032AA3	NM_017625.2	tolerated(0.3)		7/8		hmmpanther:PTHR16146,hmmpanther:PTHR16146:SF38,Superfamily_domains:SSF56496																	MODERATE	1	SNV	1			1										PASS		rs878960498	.												A	3	1	62	160879414	160879414	C	A	1	0	0	0	0	1	0	0	0	7816	637	22	2		2	ITLN1	1	160879414	Missense_Mutation	SNP	C	C3N-00580_TP	1673563	160879414	88077008	65	19525	413	2									
ITLN1	0	.	GRCh38	chr1	160879416	160879416	+	Splice_Site	SNP	T	T	A																															aatcccgcagtgaattccccTgaaaacaagaggcagaaaac																								novel		C3N-00580_TP	C3N-00580_NB	T	T																c.686-2A>T		p.X229_splice	ENST00000326245		235	164	71	146	146	0	strelka-varscan-mutect	ITLN1,splice_acceptor_variant,,ENST00000326245,NM_017625.2;ITLN1,splice_acceptor_variant,,ENST00000487531,;ITLN1,downstream_gene_variant,,ENST00000464077,;	A	ENST00000326245	Transcript	splice_acceptor_variant	-/1183	686/942	229/313				1		-1	ITLN1	HGNC	HGNC:18259	protein_coding	YES	CCDS1211.1	ENSP00000323587	Q8WWA0		UPI0000032AA3	NM_017625.2				6/7																		HIGH	1	SNV	1			1										PASS		rs1221467356	.												A	5	1	62	160879416	160879416	T	A	1	0	0	0	0	0	0	1	0	7816	1594	55	4		4	ITLN1	1	160879416	Splice_Site	SNP	T	C3N-00580_TP	2	160879416	88077006	66	19526	413	2									
FCGR3A	0	.	GRCh38	chr1	161544911	161544911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgacacctcaggtgaatagGgtcttcctccttgaacaccc	9	10	9	13	0	2	3	1	3	1	0	4	3	4	3	4	2	1	0	4	2	3	3	rs765857580		C3N-00580_TP	C3N-00580_NB	G	G																c.475C>A	p.Pro159Thr	p.P159T	ENST00000367969	4/5	661	461	200	422	422	0	strelka-varscan-mutect	FCGR3A,missense_variant,p.Pro159Thr,ENST00000367969,NM_001127592.1,NM_000569.6;FCGR3A,missense_variant,p.Pro123Thr,ENST00000443193,;FCGR3A,missense_variant,p.Pro123Thr,ENST00000436743,NM_001127595.1,NM_001127596.1,NM_001127593.1;FCGR3A,missense_variant,p.Pro123Thr,ENST00000367967,;FCGR3A,missense_variant,p.Pro140Thr,ENST00000426740,;FCGR3A,downstream_gene_variant,,ENST00000442336,;RP11-25K21.6,intron_variant,,ENST00000537821,;FCGR3A,downstream_gene_variant,,ENST00000476031,;	T	ENST00000367969	Transcript	missense_variant	659/2310	475/873	159/290	P/T	Cct/Act	rs765857580	1		-1	FCGR3A	HGNC	HGNC:3619	protein_coding	YES	CCDS1232.1	ENSP00000356946		M9MML0	UPI000013E1BC	NM_001127592.1,NM_000569.6	tolerated(0.54)		4/5		PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF14,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs765857580	.												T	3	4	62	161544911	161544911	G	T	1	0	0	0	0	1	0	0	0	5646	1232	43	2		2	FCGR3A	1	161544911	Missense_Mutation	SNP	G	C3N-00580_TP	665495	161544911	87411511	67	19527											
OLFML2B	0	.	GRCh38	chr1	161983798	161983799	+	Frame_Shift_Del	DEL	GG	GG	-																															tcattctcgaacagcagcctGgggacgatctgtgtgttggt																								novel		C3N-00580_TP	C3N-00580_NB	GG	GG																c.2132_2133delCC	p.Pro711GlnfsTer7	p.P711Qfs*7	ENST00000367940	8/8	625	591	34	383	382	1	varindel-pindel	OLFML2B,frameshift_variant,p.Pro710GlnfsTer7,ENST00000294794,NM_015441.2;OLFML2B,frameshift_variant,p.Pro711GlnfsTer7,ENST00000367940,NM_001297713.1;OLFML2B,frameshift_variant,p.Pro193GlnfsTer7,ENST00000367938,;OLFML2B,frameshift_variant,p.Pro48GlnfsTer7,ENST00000525589,;OLFML2B,frameshift_variant,p.Pro50GlnfsTer7,ENST00000533556,;	-	ENST00000367940	Transcript	frameshift_variant	2342-2343/2685	2132-2133/2256	711/751	P/X	cCC/c		1		-1	OLFML2B	HGNC	HGNC:24558	protein_coding	YES	CCDS72966.1	ENSP00000356917		F2Z3N3	UPI0001AE79B2	NM_001297713.1			8/8		PROSITE_profiles:PS51132,hmmpanther:PTHR23192:SF37,hmmpanther:PTHR23192,Pfam_domain:PF02191,SMART_domains:SM00284																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	62	161983798	161983798	GG	-	1	0	1	0	1	0	0	0	0	10933	1335	47	0		0	OLFML2B	1	161983798	Frame_Shift_Del	DEL	GG	C3N-00580_TP	438887	161983798	86972624	68	19528											
OLFML2B	0	.	GRCh38	chr1	162020180	162020180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttgtcatagtcccccagCaactagacacacagaaaacg	15	6	6	14	1	1	2	1	0	0	2	2	2	2	2	3	0	3	1	3	0	5	3	rs765388090		C3N-00580_TP	C3N-00580_NB	C	C																c.177G>T	p.Leu59Phe	p.L59F	ENST00000367940	2/8	262	152	110	216	216	0	strelka-varscan-mutect	OLFML2B,missense_variant,p.Leu59Phe,ENST00000294794,NM_015441.2;OLFML2B,missense_variant,p.Leu59Phe,ENST00000367940,NM_001297713.1;	A	ENST00000367940	Transcript	missense_variant,splice_region_variant	387/2685	177/2256	59/751	L/F	ttG/ttT	rs765388090	1		-1	OLFML2B	HGNC	HGNC:24558	protein_coding	YES	CCDS72966.1	ENSP00000356917		F2Z3N3	UPI0001AE79B2	NM_001297713.1	deleterious(0.01)		2/8		hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37																	MODERATE	1	SNV	2			1										PASS		rs765388090	.												A	3	1	62	162020180	162020180	C	A	1	0	0	0	0	1	0	0	0	10933	724	25	2		2	OLFML2B	1	162020180	Missense_Mutation	SNP	C	C3N-00580_TP	36382	162020180	86936242	69	19529											
DUSP27	0	.	GRCh38	chr1	167127806	167127806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgaggacactgacagtgCcatagggagcttccgatatt	11	9	13	8	1	0	2	0	2	0	0	1	6	1	5	2	3	2	1	2	3	2	4			C3N-00580_TP	C3N-00580_NB	C	C																c.2675C>A	p.Ala892Asp	p.A892D	ENST00000361200	6/6	427	340	87	257	257	0	strelka-varscan-mutect	DUSP27,missense_variant,p.Ala892Asp,ENST00000361200,;DUSP27,missense_variant,p.Ala892Asp,ENST00000443333,NM_001080426.1;DUSP27,missense_variant,p.Ala892Asp,ENST00000271385,;GPA33,intron_variant,,ENST00000632571,;DUSP27,intron_variant,,ENST00000485151,;	A	ENST00000361200	Transcript	missense_variant	2841/4164	2675/3477	892/1158	A/D	gCc/gAc	COSM677337	1		1	DUSP27	HGNC	HGNC:25034	protein_coding	YES	CCDS30932.1	ENSP00000354483	Q5VZP5		UPI000040DFF5		deleterious(0.01)		6/6													1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	62	167127806	167127806	C	A	1	0	0	0	0	1	0	0	0	4646	739	26	2		2	DUSP27	1	167127806	Missense_Mutation	SNP	C	C3N-00580_TP	5107626	167127806	81828616	70	19530											
CD247	0	.	GRCh38	chr1	167518441	167518441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcctgcaggatggccgCggtgaaaagcgccttccact	7	8	13	13	3	0	1	0	1	0	0	1	2	1	2	4	3	3	1	4	3	2	1	rs750366836		C3N-00580_TP	C3N-00580_NB	C	C																c.25G>T	p.Ala9Ser	p.A9S	ENST00000362089	1/8	758	441	317	543	543	0	strelka-varscan-mutect	CD247,missense_variant,p.Ala9Ser,ENST00000392122,NM_000734.3;CD247,missense_variant,p.Ala9Ser,ENST00000362089,NM_198053.2;CD247,non_coding_transcript_exon_variant,,ENST00000483825,;CD247,non_coding_transcript_exon_variant,,ENST00000479979,;AKR1D1P1,upstream_gene_variant,,ENST00000457236,;	A	ENST00000362089	Transcript	missense_variant	98/1609	25/495	9/164	A/S	Gcg/Tcg	rs750366836	1		-1	CD247	HGNC	HGNC:1677	protein_coding	YES	CCDS1261.1	ENSP00000354782	P20963		UPI0000127362	NM_198053.2	tolerated(0.49)		1/8		Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR10035																	MODERATE	1	SNV	1			1										PASS		rs750366836	.												A	3	1	62	167518441	167518441	C	A	1	0	0	0	0	1	0	0	0	2692	768	27	1		1	CD247	1	167518441	Missense_Mutation	SNP	C	C3N-00580_TP	390635	167518441	81437981	71	19531											
MROH9	0	.	GRCh38	chr1	170986657	170986657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgataaaatcgcatctgatGcagcatccatactgatattt	14	13	6	8	1	1	3	0	3	1	0	3	3	2	3	1	0	3	3	1	0	4	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.826G>A	p.Ala276Thr	p.A276T	ENST00000367759	10/22	265	170	95	182	182	0	strelka-varscan-mutect	MROH9,missense_variant,p.Ala276Thr,ENST00000367759,NM_001163629.1;MROH9,missense_variant,p.Ala276Thr,ENST00000367758,NM_025063.2;	A	ENST00000367759	Transcript	missense_variant	980/3165	826/2586	276/861	A/T	Gca/Aca		1		1	MROH9	HGNC	HGNC:26287	protein_coding	YES	CCDS53429.1	ENSP00000356733	Q5TGP6		UPI0001B09232	NM_001163629.1	deleterious(0)		10/22		Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF5																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	170986657	170986657	G	A	1	0	0	0	0	1	0	0	0	9748	1319	46	3		3	MROH9	1	170986657	Missense_Mutation	SNP	G	C3N-00580_TP	3468216	170986657	77969765	72	19532											
SUCO	0	.	GRCh38	chr1	172557745	172557745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcagcaagtgaacagggcgGtggtgatccaaaatctgcat	12	9	12	8	1	2	2	1	2	1	0	3	2	3	2	1	3	3	2	1	3	4	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1157G>T	p.Gly386Val	p.G386V	ENST00000367723	6/23	163	147	16	148	148	0	strelka-varscan-mutect	SUCO,missense_variant,p.Gly386Val,ENST00000367723,NM_016227.3;SUCO,missense_variant,p.Gly386Val,ENST00000608151,;SUCO,missense_variant,p.Gly228Val,ENST00000263688,NM_014283.4;SUCO,missense_variant,p.Gly191Val,ENST00000610051,NM_001282750.1;SUCO,5_prime_UTR_variant,,ENST00000616058,NM_001282751.1;SUCO,non_coding_transcript_exon_variant,,ENST00000608804,;	T	ENST00000367723	Transcript	missense_variant	1281/5916	1157/4218	386/1405	G/V	gGt/gTt		1		1	SUCO	HGNC	HGNC:1240	protein_coding	YES	CCDS65726.1	ENSP00000356696	Q9UBS9	A0A024R929	UPI0000EE3C11	NM_016227.3	deleterious_low_confidence(0.02)		6/23		hmmpanther:PTHR12953:SF0,hmmpanther:PTHR12953																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	172557745	172557745	G	T	1	0	0	0	0	1	0	0	0	15751	1261	44	2		2	SUCO	1	172557745	Missense_Mutation	SNP	G	C3N-00580_TP	1571088	172557745	76398677	73	19533											
SUCO	0	.	GRCh38	chr1	172585926	172585926	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgaatcaactcctgttTcaactcctgttccatctcct	7	15	4	15	0	3	1	2	1	1	0	7	1	6	1	5	0	3	2	5	0	3	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.2089T>A	p.Ser697Thr	p.S697T	ENST00000367723	16/23	226	210	16	131	131	0	strelka-varscan-mutect	SUCO,missense_variant,p.Ser697Thr,ENST00000367723,NM_016227.3;SUCO,missense_variant,p.Ser697Thr,ENST00000608151,;SUCO,missense_variant,p.Ser546Thr,ENST00000263688,NM_014283.4;SUCO,missense_variant,p.Ser509Thr,ENST00000610051,NM_001282750.1;SUCO,intron_variant,,ENST00000616058,NM_001282751.1;	A	ENST00000367723	Transcript	missense_variant	2213/5916	2089/4218	697/1405	S/T	Tca/Aca		1		1	SUCO	HGNC	HGNC:1240	protein_coding	YES	CCDS65726.1	ENSP00000356696	Q9UBS9	A0A024R929	UPI0000EE3C11	NM_016227.3	deleterious(0.04)		16/23		Low_complexity_(Seg):seg,hmmpanther:PTHR12953:SF0,hmmpanther:PTHR12953																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	172585926	172585926	T	A	1	0	0	0	0	1	0	0	0	15751	1783	62	4		4	SUCO	1	172585926	Missense_Mutation	SNP	T	C3N-00580_TP	28181	172585926	76370496	74	19534											
SUCO	0	.	GRCh38	chr1	172589604	172589604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatacagccactgtacccGacaatgaagatggggaagcc	15	6	10	10	1	0	2	0	1	0	1	0	4	0	3	3	2	4	1	3	2	7	3	rs547712281		C3N-00580_TP	C3N-00580_NB	G	G																c.2956G>T	p.Asp986Tyr	p.D986Y	ENST00000367723	17/23	347	189	158	168	167	1	strelka-varscan-mutect	SUCO,missense_variant,p.Asp986Tyr,ENST00000367723,NM_016227.3;SUCO,missense_variant,p.Asp986Tyr,ENST00000608151,;SUCO,missense_variant,p.Asp835Tyr,ENST00000263688,NM_014283.4;SUCO,missense_variant,p.Asp272Tyr,ENST00000616058,NM_001282751.1;SUCO,intron_variant,,ENST00000610051,NM_001282750.1;	T	ENST00000367723	Transcript	missense_variant	3080/5916	2956/4218	986/1405	D/Y	Gac/Tac	rs547712281,COSM1198487,COSM1198488	1		1	SUCO	HGNC	HGNC:1240	protein_coding	YES	CCDS65726.1	ENSP00000356696	Q9UBS9	A0A024R929	UPI0000EE3C11	NM_016227.3	deleterious(0)		17/23		hmmpanther:PTHR12953:SF0,hmmpanther:PTHR12953											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs547712281	.												T	3	4	62	172589604	172589604	G	T	1	0	0	0	0	1	0	0	0	15751	1058	37	1		1	SUCO	1	172589604	Missense_Mutation	SNP	G	C3N-00580_TP	3678	172589604	76366818	75	19535											
TNR	0	.	GRCh38	chr1	175403305	175403313	+	In_Frame_Del	DEL	AACAGTCCC	AACAGTCCC	-																															ggcacatctccccttccccgAacagtccccagggcacctca																								novel		C3N-00580_TP	C3N-00580_NB	AACAGTCCC	AACAGTCCC																c.803_811delGGGACTGTT	p.Gly268_Ser271delinsAla	p.G268_S271delinsA	ENST00000367674	4/23	567	355	212	448	448	0	sindel-varindel-pindel	TNR,inframe_deletion,p.Gly268_Ser271delinsAla,ENST00000367674,;TNR,inframe_deletion,p.Gly268_Ser271delinsAla,ENST00000263525,NM_003285.2;TNR,intron_variant,,ENST00000422274,;	-	ENST00000367674	Transcript	inframe_deletion	1512-1520/12949	803-811/4077	268-271/1358	GDCS/A	gGGGACTGTTcg/gcg		1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C				4/23		Gene3D:2.10.25.10,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF254,SMART_domains:SM00181																	MODERATE	1	deletion	5			1										PASS		.	.												-	7	5	62	175403305	175403305	AACAGTCCC	-	1	0	1	0	1	0	0	0	0	16811	246	9	0		0	TNR	1	175403305	In_Frame_Del	DEL	AACAGTCCC	C3N-00580_TP	2813701	175403305	73553117	76	19536											
SEC16B	0	.	GRCh38	chr1	177937330	177937330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaactgagtaaaaaggcCtcggtgtccctgtctgccct	9	9	11	12	1	1	1	0	1	1	0	3	2	2	2	3	3	2	1	3	3	4	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2387G>T	p.Arg796Met	p.R796M	ENST00000308284	19/26	447	340	107	371	370	1	strelka-varscan-mutect	SEC16B,missense_variant,p.Arg796Met,ENST00000308284,NM_033127.2;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000354921,;SEC16B,non_coding_transcript_exon_variant,,ENST00000327037,;SEC16B,upstream_gene_variant,,ENST00000495165,;SEC16B,3_prime_UTR_variant,,ENST00000528461,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000466953,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000464428,;	A	ENST00000308284	Transcript	missense_variant	2477/3985	2387/3183	796/1060	R/M	aGg/aTg		1		-1	SEC16B	HGNC	HGNC:30301	protein_coding	YES	CCDS44281.1	ENSP00000308339	Q96JE7		UPI0000203C4D	NM_033127.2	tolerated(0.12)		19/26		hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	177937330	177937330	C	A	1	0	0	0	0	1	0	0	0	14264	681	24	2		2	SEC16B	1	177937330	Missense_Mutation	SNP	C	C3N-00580_TP	2534025	177937330	71019092	77	19537											
CACNA1E	0	.	GRCh38	chr1	181771292	181771292	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgtttctctcctcaaGgtatttggaaacataaaatt	11	17	6	7	0	3	0	1	0	2	0	5	1	4	1	1	2	1	3	1	2	5	6			C3N-00580_TP	C3N-00580_NB	G	G																c.4882-1G>T		p.X1628_splice	ENST00000367573		161	91	70	59	59	0	strelka-varscan-mutect	CACNA1E,splice_acceptor_variant,,ENST00000621791,NM_001205294.1;CACNA1E,splice_acceptor_variant,,ENST00000621551,;CACNA1E,splice_acceptor_variant,,ENST00000367567,;CACNA1E,splice_acceptor_variant,,ENST00000358338,;CACNA1E,splice_acceptor_variant,,ENST00000367570,NM_000721.3;CACNA1E,splice_acceptor_variant,,ENST00000367573,NM_001205293.1;CACNA1E,splice_acceptor_variant,,ENST00000357570,;CACNA1E,splice_acceptor_variant,,ENST00000360108,;RNA5SP70,upstream_gene_variant,,ENST00000517168,;	T	ENST00000367573	Transcript	splice_acceptor_variant	-/7067	4882/6942	1628/2313			COSM4450200,COSM4450201,COSM4450202,COSM4450203,COSM5527993	1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1				35/47												1,1,1,1,1						HIGH	1	SNV	1		1,1,1,1,1	1										PASS		.	.												T	5	4	62	181771292	181771292	G	T	1	0	0	0	0	0	0	1	0	2230	1014	35	2		2	CACNA1E	1	181771292	Splice_Site	SNP	G	C3N-00580_TP	3833962	181771292	67185130	78	19538											
CDC73	0	.	GRCh38	chr1	193125179	193125179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatttctacttaataacGtgcacctttctcatcctgtt	8	20	3	10	1	2	0	1	0	2	0	4	0	3	0	2	0	3	2	2	0	4	8	rs748952219		C3N-00580_TP	C3N-00580_NB	G	G																c.199G>T	p.Val67Leu	p.V67L	ENST00000367435	2/17	583	450	133	332	331	1	strelka-varscan-mutect	CDC73,missense_variant,p.Val67Leu,ENST00000367435,NM_024529.4;CDC73,missense_variant,p.Val67Leu,ENST00000635846,;CDC73,non_coding_transcript_exon_variant,,ENST00000482484,;	T	ENST00000367435	Transcript	missense_variant	383/4969	199/1596	67/531	V/L	Gtg/Ttg	rs748952219,COSM3689228	1		1	CDC73	HGNC	HGNC:16783	protein_coding	YES	CCDS1382.1	ENSP00000356405	Q6P1J9		UPI0000021592	NM_024529.4	tolerated(0.07)		2/17		Pfam_domain:PF16050,hmmpanther:PTHR12466,hmmpanther:PTHR12466:SF8											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs748952219	.												T	3	4	62	193125179	193125179	G	T	1	0	0	0	0	1	0	0	0	2788	1145	40	1		1	CDC73	1	193125179	Missense_Mutation	SNP	G	C3N-00580_TP	11353887	193125179	55831243	79	19539											
KCNT2	0	.	GRCh38	chr1	196228228	196228228	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcattttatttttatcaaAgttgagtttcctcccgagaa	10	18	5	8	1	2	2	2	1	1	1	5	3	4	2	2	0	0	2	2	0	4	7	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.3404T>G	p.Leu1135Arg	p.L1135R	ENST00000294725	28/28	246	229	17	192	192	0	strelka-varscan-mutect	KCNT2,missense_variant,p.Leu1111Arg,ENST00000367433,NM_001287819.1;KCNT2,missense_variant,p.Leu1135Arg,ENST00000294725,NM_198503.3;KCNT2,missense_variant,p.Leu1068Arg,ENST00000609185,NM_001287820.1;KCNT2,3_prime_UTR_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;	C	ENST00000294725	Transcript	missense_variant	4320/4409	3404/3408	1135/1135	L/R	cTt/cGt		1		-1	KCNT2	HGNC	HGNC:18866	protein_coding	YES	CCDS1384.1	ENSP00000294725	Q6UVM3	A9LNM6	UPI00001E0966	NM_198503.3	deleterious_low_confidence(0)		28/28																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	196228228	196228228	A	C	1	0	0	0	0	1	0	0	0	8008	72	3	5		5	KCNT2	1	196228228	Missense_Mutation	SNP	A	C3N-00580_TP	3103049	196228228	52728194	80	19540											
KCNT2	0	.	GRCh38	chr1	196258329	196258329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttttaccagagtgttttgGgccttttctgctcagtcttc	4	19	9	9	0	3	1	1	0	2	1	4	1	3	1	2	1	2	3	2	1	1	7			C3N-00580_TP	C3N-00580_NB	G	G																c.3076C>A	p.Pro1026Thr	p.P1026T	ENST00000294725	26/28	414	293	121	223	222	1	strelka-varscan-mutect	KCNT2,missense_variant,p.Pro1002Thr,ENST00000367433,NM_001287819.1;KCNT2,missense_variant,p.Pro1026Thr,ENST00000294725,NM_198503.3;KCNT2,missense_variant,p.Pro959Thr,ENST00000609185,NM_001287820.1;KCNT2,3_prime_UTR_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;	T	ENST00000294725	Transcript	missense_variant	3992/4409	3076/3408	1026/1135	P/T	Cca/Aca	COSM5585554,COSM5585555	1		-1	KCNT2	HGNC	HGNC:18866	protein_coding	YES	CCDS1384.1	ENSP00000294725	Q6UVM3	A9LNM6	UPI00001E0966	NM_198503.3	tolerated(0.25)		26/28		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	62	196258329	196258329	G	T	1	0	0	0	0	1	0	0	0	8008	1232	43	2		2	KCNT2	1	196258329	Missense_Mutation	SNP	G	C3N-00580_TP	30101	196258329	52698093	81	19541											
CFHR1	0	.	GRCh38	chr1	196831895	196831895	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacaggtgaatcagctGaatttgtgtgtaaacgggga	13	10	14	4	1	1	3	1	3	0	1	1	5	1	4	0	3	3	2	0	3	5	2	rs201995028		C3N-00580_TP	C3N-00580_NB	G	G																c.889G>T	p.Glu297Ter	p.E297*	ENST00000320493	6/6	1038	809	229	680	680	0	strelka-varscan-mutect	CFHR1,stop_gained,p.Glu297Ter,ENST00000320493,NM_002113.2;CFHR1,stop_gained,p.Glu238Ter,ENST00000367424,;RP4-608O15.3,intron_variant,,ENST00000367421,;CFHR1,downstream_gene_variant,,ENST00000480960,;	T	ENST00000320493	Transcript	stop_gained	977/1271	889/993	297/330	E/*	Gaa/Taa	rs201995028,COSM3480853	1		1	CFHR1	HGNC	HGNC:4888	protein_coding	YES	CCDS1386.1	ENSP00000314299	Q03591		UPI000013CCFE	NM_002113.2			6/6		PROSITE_profiles:PS50923,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs201995028	.												T	4	4	62	196831895	196831895	G	T	1	0	0	0	0	0	1	0	0	3042	1291	45	2		2	CFHR1	1	196831895	Nonsense_Mutation	SNP	G	C3N-00580_TP	573566	196831895	52124527	82	19542											
CFHR5	0	.	GRCh38	chr1	196994233	196994233	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgttaccaatttgggtggtCacctaactttccaacatgca	11	13	7	10	0	1	0	1	0	0	0	2	0	2	0	3	2	4	2	3	2	4	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.584C>G	p.Ser195Ter	p.S195*	ENST00000256785	4/10	353	282	71	249	249	0	strelka-varscan-mutect	CFHR5,stop_gained,p.Ser195Ter,ENST00000256785,NM_030787.3;	G	ENST00000256785	Transcript	stop_gained	693/2810	584/1710	195/569	S/*	tCa/tGa		1		1	CFHR5	HGNC	HGNC:24668	protein_coding	YES	CCDS1387.1	ENSP00000256785	Q9BXR6		UPI0000043814	NM_030787.3			4/10		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF381,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535																	HIGH	1	SNV	1			1										PASS		rs765183774	.												G	4	3	62	196994233	196994233	C	G	1	0	0	0	0	0	1	0	0	3046	838	29	4		4	CFHR5	1	196994233	Nonsense_Mutation	SNP	C	C3N-00580_TP	162338	196994233	51962189	83	19543											
ASPM	0	.	GRCh38	chr1	197101587	197101587	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtattacgatagaagctTtgtgtttttcccttaaaagt	10	19	7	5	1	0	1	0	0	0	1	1	2	1	1	1	0	2	3	1	0	6	8	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.7664A>G	p.Lys2555Arg	p.K2555R	ENST00000367409	18/28	419	321	98	317	317	0	strelka-varscan-mutect	ASPM,missense_variant,p.Lys2555Arg,ENST00000367409,NM_018136.4;ASPM,missense_variant,p.Lys541Arg,ENST00000612785,;ASPM,intron_variant,,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000367408,;	C	ENST00000367409	Transcript	missense_variant	7921/10887	7664/10434	2555/3477	K/R	aAa/aGa		1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4	tolerated(0.73)		18/28		PROSITE_profiles:PS50096,SMART_domains:SM00015,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	197101587	197101587	T	C	1	0	0	0	0	1	0	0	0	1203	1841	64	5		5	ASPM	1	197101587	Missense_Mutation	SNP	T	C3N-00580_TP	107354	197101587	51854835	84	19544											
CACNA1S	0	.	GRCh38	chr1	201085546	201085546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttctggaaggttcccCtggacttggccttctcccgc	4	11	12	14	1	2	0	0	0	2	0	4	3	3	3	4	5	1	2	4	5	1	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1040G>T	p.Arg347Met	p.R347M	ENST00000362061	8/44	393	294	99	260	260	0	strelka-varscan-mutect	CACNA1S,missense_variant,p.Arg347Met,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Arg347Met,ENST00000367338,;	A	ENST00000362061	Transcript	missense_variant	1267/6166	1040/5622	347/1873	R/M	aGg/aTg		1		-1	CACNA1S	HGNC	HGNC:1397	protein_coding	YES	CCDS1407.1	ENSP00000355192	Q13698		UPI000020471D	NM_000069.2	deleterious(0)		8/44		Prints_domain:PR00167,Prints_domain:PR01630,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	201085546	201085546	C	A	1	0	0	0	0	1	0	0	0	2235	681	24	2		2	CACNA1S	1	201085546	Missense_Mutation	SNP	C	C3N-00580_TP	3983959	201085546	47870876	85	19545											
LMOD1	0	.	GRCh38	chr1	201900389	201900389	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacctccttcatctcctcTctctttttatccttgtccct	3	18	2	18	0	4	0	1	0	3	0	9	0	7	0	6	0	0	0	6	0	1	5	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.624A>G	p.=	p.R208R	ENST00000367288	2/3	473	261	212	270	270	0	strelka-varscan-mutect	LMOD1,synonymous_variant,p.=,ENST00000367288,NM_012134.2;LMOD1,synonymous_variant,p.=,ENST00000616739,;RP11-307B6.3,downstream_gene_variant,,ENST00000458139,;RP11-307B6.3,downstream_gene_variant,,ENST00000414927,;	C	ENST00000367288	Transcript	synonymous_variant	871/3970	624/1803	208/600	R	agA/agG		1		-1	LMOD1	HGNC	HGNC:6647	protein_coding	YES	CCDS53457.1	ENSP00000356257	P29536		UPI00003665F4	NM_012134.2			2/3		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	62	201900389	201900389	T	C	1	0	0	0	0	0	0	0	1	8783	1548	54	5		5	LMOD1	1	201900389	Silent	SNP	T	C3N-00580_TP	814843	201900389	47056033	86	19546											
PPFIA4	0	.	GRCh38	chr1	203049739	203049739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accagctgaagggccgagggGggccgtttgtggatggcgtc	6	7	19	9	3	0	1	0	1	0	0	1	3	0	2	3	6	1	2	3	6	1	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1495G>T	p.Gly499Trp	p.G499W	ENST00000447715	17/35	105	73	32	80	80	0	strelka-varscan-mutect	PPFIA4,missense_variant,p.Gly474Trp,ENST00000367240,NM_001304331.1,NM_001304332.1;PPFIA4,missense_variant,p.Gly499Trp,ENST00000447715,;PPFIA4,missense_variant,p.Gly241Trp,ENST00000600426,;PPFIA4,5_prime_UTR_variant,,ENST00000295706,;PPFIA4,upstream_gene_variant,,ENST00000272198,;PPFIA4,upstream_gene_variant,,ENST00000599966,;PPFIA4,upstream_gene_variant,,ENST00000599514,;PPFIA4,downstream_gene_variant,,ENST00000601609,;PPFIA4,upstream_gene_variant,,ENST00000600447,;	T	ENST00000447715	Transcript	missense_variant	1936/6349	1495/3558	499/1185	G/W	Ggg/Tgg		1		1	PPFIA4	HGNC	HGNC:9248	protein_coding	YES		ENSP00000402576	O75335		UPI0001661778		deleterious(0.01)		17/35		hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	203049739	203049739	G	T	1	0	0	0	0	1	0	0	0	12421	1232	43	2		2	PPFIA4	1	203049739	Missense_Mutation	SNP	G	C3N-00580_TP	1149350	203049739	45906683	87	19547											
CHIT1	0	.	GRCh38	chr1	203219682	203219682	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acttcatagtaggccagcatCcctccttccttggtgaaggg	8	11	10	12	0	1	1	1	1	0	0	4	1	4	1	4	3	1	2	4	3	3	5	rs202073190		C3N-00580_TP	C3N-00580_NB	C	C																c.897G>T	p.=	p.G299G	ENST00000367229	8/11	666	541	125	420	420	0	strelka-varscan-mutect	CHIT1,synonymous_variant,p.=,ENST00000367229,NM_001270509.1,NM_003465.2;CHIT1,synonymous_variant,p.=,ENST00000255427,NM_001256125.1;CHIT1,non_coding_transcript_exon_variant,,ENST00000484834,;CHIT1,non_coding_transcript_exon_variant,,ENST00000506427,;CHIT1,downstream_gene_variant,,ENST00000513472,;CHIT1,upstream_gene_variant,,ENST00000479483,;CHIT1,synonymous_variant,p.=,ENST00000491855,;CHIT1,synonymous_variant,p.=,ENST00000503786,;	A	ENST00000367229	Transcript	synonymous_variant	932/2246	897/1401	299/466	G	ggG/ggT	rs202073190,COSM4561739	1		-1	CHIT1	HGNC	HGNC:1936	protein_coding	YES	CCDS1436.1	ENSP00000356198	Q13231		UPI00000399C1	NM_001270509.1,NM_003465.2			8/11		hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF211,Gene3D:3.10.50.10,Pfam_domain:PF00704,SMART_domains:SM00636,Superfamily_domains:SSF54556											0,1						LOW	1	SNV	1		0,1	1										PASS		rs202073190	.												A	2	1	62	203219682	203219682	C	A	1	0	0	0	0	0	0	0	1	3105	842	30	2		2	CHIT1	1	203219682	Silent	SNP	C	C3N-00580_TP	169943	203219682	45736740	88	19548											
PPP1R15B	0	.	GRCh38	chr1	204411275	204411275	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaaagcagtgtggggttcCcggagttttccgggccaaga	9	8	16	8	2	0	1	0	0	0	1	2	3	2	3	3	5	1	3	3	5	2	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.137G>T	p.Gly46Val	p.G46V	ENST00000367188	1/2	627	383	244	533	533	0	strelka-varscan-mutect	PPP1R15B,missense_variant,p.Gly46Val,ENST00000367188,NM_032833.4;RP11-739N20.2,intron_variant,,ENST00000443515,;	A	ENST00000367188	Transcript	missense_variant	517/5227	137/2142	46/713	G/V	gGg/gTg		1		-1	PPP1R15B	HGNC	HGNC:14951	protein_coding	YES	CCDS1445.1	ENSP00000356156	Q5SWA1		UPI0000EE3EB3	NM_032833.4	deleterious_low_confidence(0)		1/2		Pfam_domain:PF10472																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	204411275	204411275	C	A	1	0	0	0	0	1	0	0	0	12474	623	22	2		2	PPP1R15B	1	204411275	Missense_Mutation	SNP	C	C3N-00580_TP	1191593	204411275	44545147	89	19549											
FAM72A	0	.	GRCh38	chr1	206202017	206202017	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttgaaactacaaatgttGgtagacatggcgtcgcagga	12	10	11	8	2	0	2	0	1	0	1	2	3	1	3	1	3	2	3	1	3	4	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.9C>A	p.=	p.T3T	ENST00000367128	1/4	49	39	10	45	45	0	strelka-varscan-mutect	FAM72A,synonymous_variant,p.=,ENST00000367128,NM_001123168.1;FAM72A,synonymous_variant,p.=,ENST00000341209,;FAM72A,synonymous_variant,p.=,ENST00000607379,;FAM72A,intron_variant,,ENST00000431655,;FAM72A,intron_variant,,ENST00000367129,;SRGAP2,upstream_gene_variant,,ENST00000573034,NM_015326.4;SRGAP2,upstream_gene_variant,,ENST00000624873,NM_001170637.3;SRGAP2,upstream_gene_variant,,ENST00000605610,NM_001300952.1;SRGAP2,upstream_gene_variant,,ENST00000419187,;SRGAP2,upstream_gene_variant,,ENST00000579225,;FAM72A,downstream_gene_variant,,ENST00000468509,;FAM72A,intron_variant,,ENST00000470041,;FAM72A,intron_variant,,ENST00000481737,;SRGAP2,upstream_gene_variant,,ENST00000624686,;SRGAP2,upstream_gene_variant,,ENST00000603708,;SRGAP2,upstream_gene_variant,,ENST00000603575,;	T	ENST00000367128	Transcript	synonymous_variant	857/2398	9/450	3/149	T	acC/acA		1		-1	FAM72A	HGNC	HGNC:24044	protein_coding	YES	CCDS73016.1	ENSP00000356096	Q5TYM5		UPI0000046C34	NM_001123168.1			1/4		hmmpanther:PTHR31841																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	206202017	206202017	G	T	1	0	0	0	0	0	0	0	1	5479	1335	47	2		2	FAM72A	1	206202017	Silent	SNP	G	C3N-00580_TP	1790742	206202017	42754405	90	19550											
SRGAP2	0	.	GRCh38	chr1	206446296	206446296	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaggaagcatggaggattActggtaggggggcttgggac	10	7	20	4	0	0	0	0	0	0	0	0	5	0	5	0	9	2	3	0	9	3	3	rs782181909		C3N-00580_TP	C3N-00580_NB	A	A																c.2096A>T	p.Tyr699Phe	p.Y699F	ENST00000573034	17/22	368	346	22	225	225	0	strelka-varscan-mutect	SRGAP2,missense_variant,p.Tyr699Phe,ENST00000573034,NM_015326.4;SRGAP2,missense_variant,p.Tyr698Phe,ENST00000624873,NM_001170637.3;SRGAP2,missense_variant,p.Tyr698Phe,ENST00000605610,NM_001300952.1;SRGAP2,missense_variant,p.Tyr313Phe,ENST00000605476,;SRGAP2,missense_variant,p.Tyr82Phe,ENST00000604925,;SRGAP2,downstream_gene_variant,,ENST00000604419,;	T	ENST00000573034	Transcript	missense_variant	2158/6301	2096/3216	699/1071	Y/F	tAc/tTc	rs782181909	1		1	SRGAP2	HGNC	HGNC:19751	protein_coding	YES	CCDS73017.1	ENSP00000459615		A2RUF3	UPI0000DC3AA7	NM_015326.4	tolerated(0.16)		17/22		hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF6																	MODERATE	1	SNV	1			1										PASS		rs782181909	.												T	3	4	62	206446296	206446296	A	T	1	0	0	0	0	1	0	0	0	15505	405	14	4		4	SRGAP2	1	206446296	Missense_Mutation	SNP	A	C3N-00580_TP	244279	206446296	42510126	91	19551											
CR1	0	.	GRCh38	chr1	207575609	207575609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttaggcaccgactcattgGtcactcatctgctgaatgta	9	13	8	11	1	4	1	3	1	1	0	4	2	4	1	1	2	1	3	1	2	3	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.4466G>C	p.Gly1489Ala	p.G1489A	ENST00000367049	28/47	629	542	87	406	406	0	strelka-varscan-mutect	CR1,missense_variant,p.Gly1489Ala,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Gly1039Ala,ENST00000367051,;CR1,missense_variant,p.Gly1039Ala,ENST00000367052,;CR1,missense_variant,p.Gly1039Ala,ENST00000367053,;CR1,missense_variant,p.Gly1039Ala,ENST00000400960,NM_000573.3;CR1,intron_variant,,ENST00000529814,;RP11-78B10.2,intron_variant,,ENST00000623503,;RP11-78B10.2,intron_variant,,ENST00000597497,;RP11-78B10.2,intron_variant,,ENST00000596003,;CR1,3_prime_UTR_variant,,ENST00000534202,;CR1,downstream_gene_variant,,ENST00000436595,;CR1,downstream_gene_variant,,ENST00000450439,;	C	ENST00000367049	Transcript	missense_variant	4466/7470	4466/7470	1489/2489	G/A	gGt/gCt		1		1	CR1	HGNC	HGNC:2334	protein_coding	YES	CCDS44308.1	ENSP00000356016		E9PDY4	UPI000040E8CF	NM_000651.4	deleterious(0.02)		28/47		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF354,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	62	207575609	207575609	G	C	1	0	0	0	0	1	0	0	0	3638	1261	44	4		4	CR1	1	207575609	Missense_Mutation	SNP	G	C3N-00580_TP	1129313	207575609	41380813	92	19552											
TRAF3IP3	0	.	GRCh38	chr1	209760078	209760078	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggccctcccctggcttggcCcggtgggctgagagctatga	5	8	15	13	1	0	2	0	2	0	1	1	3	1	2	4	5	1	3	4	5	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.39C>A	p.=	p.A13A	ENST00000367024	3/17	244	140	104	155	154	1	strelka-varscan-mutect	TRAF3IP3,synonymous_variant,p.=,ENST00000367024,NM_001320143.1;TRAF3IP3,synonymous_variant,p.=,ENST00000367025,NM_025228.3;TRAF3IP3,synonymous_variant,p.=,ENST00000367026,NM_001320144.1;TRAF3IP3,synonymous_variant,p.=,ENST00000400959,;TRAF3IP3,synonymous_variant,p.=,ENST00000479796,;TRAF3IP3,intron_variant,,ENST00000468672,;TRAF3IP3,synonymous_variant,p.=,ENST00000478359,;	A	ENST00000367024	Transcript	synonymous_variant	555/2331	39/1656	13/551	A	gcC/gcA		1		1	TRAF3IP3	HGNC	HGNC:30766	protein_coding	YES	CCDS1490.2	ENSP00000355991	Q9Y228		UPI00005190E1	NM_001320143.1			3/17		hmmpanther:PTHR15715:SF21,hmmpanther:PTHR15715																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	62	209760078	209760078	C	A	1	0	0	0	0	0	0	0	1	16925	610	22	2		2	TRAF3IP3	1	209760078	Silent	SNP	C	C3N-00580_TP	2184469	209760078	39196344	93	19553											
PTPN14	0	.	GRCh38	chr1	214384002	214384002	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctcctggagagactgaTgaaccaccggagagctgtcc	10	7	11	13	1	1	4	1	2	0	2	3	7	3	5	5	2	2	1	5	2	1	0	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1853A>T	p.His618Leu	p.H618L	ENST00000366956	13/19	173	100	73	107	107	0	strelka-varscan	PTPN14,missense_variant,p.His618Leu,ENST00000366956,NM_005401.4;PTPN14,3_prime_UTR_variant,,ENST00000543945,;	A	ENST00000366956	Transcript	missense_variant	2048/12985	1853/3564	618/1187	H/L	cAt/cTt		1		-1	PTPN14	HGNC	HGNC:9647	protein_coding	YES	CCDS1514.1	ENSP00000355923	Q15678		UPI000013DCA6	NM_005401.4	deleterious(0)		13/19		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77,PIRSF_domain:PIRSF000934																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	214384002	214384002	T	A	1	0	0	0	0	1	0	0	0	12936	1464	51	4		4	PTPN14	1	214384002	Missense_Mutation	SNP	T	C3N-00580_TP	4623924	214384002	34572420	94	19554											
CENPF	0	.	GRCh38	chr1	214644631	214644631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actacagaaagaacaccaaaGcatgatgttcatcagatttg	17	9	7	8	0	2	4	2	1	0	3	2	4	2	4	1	0	3	2	1	0	4	3	rs763114507		C3N-00580_TP	C3N-00580_NB	G	G																c.5061G>T	p.Lys1687Asn	p.K1687N	ENST00000366955	13/20	154	122	32	104	104	0	strelka-varscan	CENPF,missense_variant,p.Lys1687Asn,ENST00000366955,NM_016343.3;CENPF,upstream_gene_variant,,ENST00000614578,;CENPF,upstream_gene_variant,,ENST00000467765,;	T	ENST00000366955	Transcript	missense_variant	5229/10307	5061/9345	1687/3114	K/N	aaG/aaT	rs763114507	1		1	CENPF	HGNC	HGNC:1857	protein_coding	YES	CCDS31023.1	ENSP00000355922	P49454		UPI00001AE985	NM_016343.3	tolerated(0.13)		13/20		hmmpanther:PTHR18874																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	214644631	214644631	G	T	1	0	0	0	0	1	0	0	0	2939	962	34	2		2	CENPF	1	214644631	Missense_Mutation	SNP	G	C3N-00580_TP	260629	214644631	34311791	95	19555											
USH2A	0	.	GRCh38	chr1	215634602	215634602	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaatggccaacaagatcaAgcccagcatcgccattaaca	18	5	6	12	1	1	1	1	0	0	1	2	1	1	1	3	1	4	1	3	1	6	1	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.15154T>C	p.=	p.L5052L	ENST00000307340	70/72	649	601	48	322	322	0	strelka-varscan	USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;SNORD116,upstream_gene_variant,,ENST00000365628,;	G	ENST00000307340	Transcript	synonymous_variant	15541/18883	15154/15609	5052/5202	L	Ttg/Ctg		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			70/72		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	62	215634602	215634602	A	G	1	0	0	0	0	0	0	0	1	17570	69	3	5		5	USH2A	1	215634602	Silent	SNP	A	C3N-00580_TP	989971	215634602	33321820	96	19556											
USH2A	0	.	GRCh38	chr1	215674387	215674387	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgttgctggcagttacTgtgtagctatactccacacc	7	13	10	11	0	0	0	0	0	0	0	1	0	1	0	2	2	4	7	2	2	4	5	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.13524A>T	p.=	p.T4508T	ENST00000307340	63/72	274	158	116	167	167	0	strelka-varscan	USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;	A	ENST00000307340	Transcript	synonymous_variant	13911/18883	13524/15609	4508/5202	T	acA/acT		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			63/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	215674387	215674387	T	A	1	0	0	0	0	0	0	0	1	17570	1567	55	4		4	USH2A	1	215674387	Silent	SNP	T	C3N-00580_TP	39785	215674387	33282035	97	19557											
USH2A	0	.	GRCh38	chr1	216246885	216246885	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaagaattattttgccGtaggtagaagtttccctcca	12	12	10	7	1	0	2	0	0	0	2	2	4	2	3	3	2	1	3	3	2	6	6	rs142655448		C3N-00580_TP	C3N-00580_NB	G	G																c.2509C>A	p.=	p.R837R	ENST00000307340	13/72	486	420	66	268	268	0	strelka-varscan	USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;USH2A,synonymous_variant,p.=,ENST00000366942,NM_007123.5;	T	ENST00000307340	Transcript	synonymous_variant	2896/18883	2509/15609	837/5202	R	Cgg/Agg	rs142655448,COSM252908	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			13/72		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00180,Superfamily_domains:SSF57196											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												T	2	4	62	216246885	216246885	G	T	1	0	0	0	0	0	0	0	1	17570	1144	40	1		1	USH2A	1	216246885	Silent	SNP	G	C3N-00580_TP	572498	216246885	32709537	98	19558											
EPRS	0	.	GRCh38	chr1	219997128	219997128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggagggtttccaggtttaTattcctggccagttttctcc	6	15	10	10	0	1	0	0	0	1	0	4	1	3	1	4	4	0	3	4	4	2	7	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.2396A>G	p.Tyr799Cys	p.Y799C	ENST00000366923	18/32	385	347	38	277	277	0	strelka-varscan	EPRS,missense_variant,p.Tyr799Cys,ENST00000366923,NM_004446.2;EPRS,missense_variant,p.Tyr806Cys,ENST00000609181,;EPRS,downstream_gene_variant,,ENST00000477030,;EPRS,downstream_gene_variant,,ENST00000464052,;	C	ENST00000366923	Transcript	missense_variant	2666/5014	2396/4539	799/1512	Y/C	tAt/tGt		1		-1	EPRS	HGNC	HGNC:3418	protein_coding	YES	CCDS31027.1	ENSP00000355890	P07814		UPI0000205E8C	NM_004446.2	deleterious(0)		18/32		Gene3D:1.10.287.10,Pfam_domain:PF00458,PROSITE_profiles:PS51185,SMART_domains:SM00991,Superfamily_domains:SSF47060																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	219997128	219997128	T	C	1	0	0	0	0	1	0	0	0	5039	1406	49	5		5	EPRS	1	219997128	Missense_Mutation	SNP	T	C3N-00580_TP	3750243	219997128	28959294	99	19559											
DNAH14	0	.	GRCh38	chr1	225333370	225333370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catacttctttcagcagcgtGcattgtctacagtggaattt	9	15	8	9	1	3	0	1	0	2	0	3	1	3	1	0	1	5	2	0	1	3	6	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.9665G>T	p.Cys3222Phe	p.C3222F	ENST00000430092	64/84	439	384	55	316	316	0	strelka-varscan	DNAH14,missense_variant,p.Cys3222Phe,ENST00000430092,NM_001373.1;DNAH14,missense_variant,p.Cys3222Phe,ENST00000439375,;DNAH14,intron_variant,,ENST00000445597,;DNAH14,intron_variant,,ENST00000327794,;	T	ENST00000430092	Transcript	missense_variant	9880/13763	9665/13548	3222/4515	C/F	tGc/tTc		1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000414402	Q0VDD8		UPI000192C36D	NM_001373.1	tolerated(0.2)		64/84		hmmpanther:PTHR10676:SF254,hmmpanther:PTHR10676,Pfam_domain:PF12777																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	62	225333370	225333370	G	T	1	0	0	0	0	1	0	0	0	4415	1319	46	2		2	DNAH14	1	225333370	Missense_Mutation	SNP	G	C3N-00580_TP	5336242	225333370	23623052	100	19560											
PRSS38	0	.	GRCh38	chr1	227816157	227816157	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccgagaggaagtggccGtggcaggtcagcgtgcacta	8	5	17	11	4	1	1	1	0	0	1	1	3	1	2	2	4	2	2	2	4	2	1	rs759710941		C3N-00580_TP	C3N-00580_NB	G	G																c.216G>T	p.=	p.P72P	ENST00000366757	2/5	282	221	61	182	182	0	strelka-varscan	PRSS38,synonymous_variant,p.=,ENST00000366757,NM_183062.2;	T	ENST00000366757	Transcript	synonymous_variant	240/1267	216/981	72/326	P	ccG/ccT	rs759710941,COSM1962633	1		1	PRSS38	HGNC	HGNC:29625	protein_coding	YES	CCDS1563.1	ENSP00000355719	A1L453		UPI00001BBB34	NM_183062.2			2/5		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24250,hmmpanther:PTHR24250:SF30,SMART_domains:SM00020,Superfamily_domains:SSF50494											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												T	2	4	62	227816157	227816157	G	T	1	0	0	0	0	0	0	0	1	12774	1132	40	1		1	PRSS38	1	227816157	Silent	SNP	G	C3N-00580_TP	2482787	227816157	21140265	101	19561											
OBSCN	0	.	GRCh38	chr1	228335205	228335205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcacagcctggtcctgctgGacgtgggccggcagcaccag	7	5	15	14	2	0	0	0	0	0	0	1	1	1	1	4	4	4	4	4	4	0	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.19183G>T	p.Asp6395Tyr	p.D6395Y	ENST00000570156	73/116	618	458	160	461	461	0	strelka-varscan	OBSCN,missense_variant,p.Asp6395Tyr,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Asp6395Tyr,ENST00000366707,;OBSCN,missense_variant,p.Asp5438Tyr,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Asp5438Tyr,ENST00000636875,;OBSCN,missense_variant,p.Asp5438Tyr,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Asp54Tyr,ENST00000636476,;OBSCN,intron_variant,,ENST00000483539,;	T	ENST00000570156	Transcript	missense_variant	19257/26925	19183/26772	6395/8923	D/Y	Gac/Tac		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	deleterious(0)		73/116		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF708,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	228335205	228335205	G	T	1	0	0	0	0	1	0	0	0	10889	1174	41	2		2	OBSCN	1	228335205	Missense_Mutation	SNP	G	C3N-00580_TP	519048	228335205	20621217	102	19562											
HIST3H3	0	.	GRCh38	chr1	228425255	228425255	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcgctcttgcgagccaccTtggtggccagctgcttgcgc	3	10	14	14	3	1	0	0	0	1	0	1	1	1	0	3	2	6	3	3	2	0	3	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.71A>C	p.Lys24Thr	p.K24T	ENST00000366696	1/1	344	310	34	245	245	0	strelka-varscan	HIST3H3,missense_variant,p.Lys24Thr,ENST00000366696,NM_003493.2;	G	ENST00000366696	Transcript	missense_variant	71/481	71/411	24/136	K/T	aAg/aCg		1		-1	HIST3H3	HGNC	HGNC:4778	protein_coding	YES	CCDS1572.1	ENSP00000355657	Q16695		UPI000000D7E2	NM_003493.2	deleterious_low_confidence(0)		1/1		Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,Superfamily_domains:SSF47113																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	62	228425255	228425255	T	G	1	0	0	0	0	1	0	0	0	7073	1609	56	5		5	HIST3H3	1	228425255	Missense_Mutation	SNP	T	C3N-00580_TP	90050	228425255	20531167	103	19563											
URB2	0	.	GRCh38	chr1	229659191	229659191	+	Frame_Shift_Del	DEL	G	G	-																															gcctgacgtccagttcctgcGggcctcgctgcagccgggaa																								rs138399002		C3N-00580_TP	C3N-00580_NB	G	G																c.4471delG	p.Ala1491ProfsTer7	p.A1491Pfs*7	ENST00000258243	10/10	355	202	153	220	220	0	sindel-varindel-pindel	URB2,frameshift_variant,p.Ala1491ProfsTer7,ENST00000258243,NM_001314021.1,NM_014777.2;URB2,downstream_gene_variant,,ENST00000434387,;	-	ENST00000258243	Transcript	frameshift_variant	4605/5613	4469/4575	1490/1524	R/X	cGg/cg	rs138399002,COSM533273	1		1	URB2	HGNC	HGNC:28967	protein_coding	YES	CCDS31052.1	ENSP00000258243	Q14146		UPI000013CFBD	NM_001314021.1,NM_014777.2			10/10		Pfam_domain:PF10441,hmmpanther:PTHR15682											0,1						HIGH	1	deletion	1	2	0,1	1										PASS		.	.												-	7	5	62	229659191	229659191	G	-	1	0	1	0	1	0	0	0	0	17555	1116	39	0		0	URB2	1	229659191	Frame_Shift_Del	DEL	G	C3N-00580_TP	1233936	229659191	19297231	104	19564											
RYR2	0	.	GRCh38	chr1	237454473	237454473	+	Missense_Mutation	SNP	C	C	T																															taagcctaagtctgcaggatCtcattggctacttccacccc																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1375C>T	p.Leu459Phe	p.L459F	ENST00000366574	15/105	372	331	41	206	206	0	strelka-varscan	RYR2,missense_variant,p.Leu459Phe,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Leu443Phe,ENST00000360064,;	T	ENST00000366574	Transcript	missense_variant	1692/16562	1375/14904	459/4967	L/F	Ctc/Ttc		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		15/105		Superfamily_domains:0048280,Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	237454473	237454473	C	T	1	0	0	0	0	1	0	0	0	14029	913	32	3		3	RYR2	1	237454473	Missense_Mutation	SNP	C	C3N-00580_TP	7795282	237454473	11501949	105	19565	414	2									
RYR2	0	.	GRCh38	chr1	237454476	237454476	+	Missense_Mutation	SNP	A	A	T																															gcctaagtctgcaggatctcAttggctacttccacccccca																										C3N-00580_TP	C3N-00580_NB	A	A																c.1378A>T	p.Ile460Phe	p.I460F	ENST00000366574	15/105	386	348	38	218	218	0	strelka-varscan	RYR2,missense_variant,p.Ile460Phe,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Ile444Phe,ENST00000360064,;	T	ENST00000366574	Transcript	missense_variant	1695/16562	1378/14904	460/4967	I/F	Att/Ttt	COSM1340412,COSM5157820	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		15/105		Superfamily_domains:0048280,Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	62	237454476	237454476	A	T	1	0	0	0	0	1	0	0	0	14029	217	8	4		4	RYR2	1	237454476	Missense_Mutation	SNP	A	C3N-00580_TP	3	237454476	11501946	106	19566	414	2									
RYR2	0	.	GRCh38	chr1	237496753	237496753	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggccttcatctctggtcagGtacgtactatccattttctt	6	17	7	11	1	4	0	2	0	2	0	6	0	5	0	2	3	2	2	2	3	3	7	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2203+1G>T		p.X735_splice	ENST00000366574		139	108	31	71	71	0	strelka-varscan	RYR2,splice_donor_variant,,ENST00000366574,NM_001035.2;RYR2,splice_donor_variant,,ENST00000360064,;	T	ENST00000366574	Transcript	splice_donor_variant	-/16562	2203/14904	735/4967				1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2				20/104																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	62	237496753	237496753	G	T	1	0	0	0	0	0	0	1	0	14029	1275	44	2		2	RYR2	1	237496753	Splice_Site	SNP	G	C3N-00580_TP	42277	237496753	11459669	107	19567											
RYR2	0	.	GRCh38	chr1	237614532	237614532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacagaagctgttaaagagGgcagtcttcatgcccgggac	11	8	13	9	1	2	3	1	1	1	2	2	4	2	4	1	2	2	3	1	2	3	2	rs773181830		C3N-00580_TP	C3N-00580_NB	G	G																c.5404G>T	p.Gly1802Cys	p.G1802C	ENST00000366574	37/105	666	485	181	379	378	1	strelka-varscan	RYR2,missense_variant,p.Gly1802Cys,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Gly1786Cys,ENST00000360064,;	T	ENST00000366574	Transcript	missense_variant	5721/16562	5404/14904	1802/4967	G/C	Ggc/Tgc	rs773181830	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.1)		37/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	237614532	237614532	G	T	1	0	0	0	0	1	0	0	0	14029	1232	43	2		2	RYR2	1	237614532	Missense_Mutation	SNP	G	C3N-00580_TP	117779	237614532	11341890	108	19568											
RYR2	0	.	GRCh38	chr1	237623828	237623828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtccagaagaaattcgtGaccaactattggatttccat	13	12	7	9	1	0	3	0	1	0	2	3	4	2	4	3	1	1	0	3	1	4	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.5980G>T	p.Asp1994Tyr	p.D1994Y	ENST00000366574	39/105	195	122	73	210	209	1	strelka-varscan	RYR2,missense_variant,p.Asp1994Tyr,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Asp1978Tyr,ENST00000360064,;	T	ENST00000366574	Transcript	missense_variant	6297/16562	5980/14904	1994/4967	D/Y	Gac/Tac		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0.01)		39/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	237623828	237623828	G	T	1	0	0	0	0	1	0	0	0	14029	1290	45	2		2	RYR2	1	237623828	Missense_Mutation	SNP	G	C3N-00580_TP	9296	237623828	11332594	109	19569											
RYR2	0	.	GRCh38	chr1	237786025	237786025	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaccaaatctgaaccTgaaaaagccgagtatgtata	19	7	8	7	1	1	3	0	2	1	1	1	5	1	3	3	0	3	2	3	0	9	3	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.13317T>A	p.=	p.P4439P	ENST00000366574	91/105	164	111	53	108	108	0	strelka-varscan	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,intron_variant,,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	A	ENST00000366574	Transcript	synonymous_variant	13634/16562	13317/14904	4439/4967	P	ccT/ccA		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			91/105		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06459,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	237786025	237786025	T	A	1	0	0	0	0	0	0	0	1	14029	1567	55	4		4	RYR2	1	237786025	Silent	SNP	T	C3N-00580_TP	162197	237786025	11170397	110	19570											
ZP4	0	.	GRCh38	chr1	237887377	237887377	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcccaactgctcacctgTcttgtggtgccacaggaagt	10	9	10	12	0	2	0	1	0	1	0	2	1	2	1	3	2	4	1	3	2	3	1	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.738A>G	p.=	p.R246R	ENST00000611898	5/13	143	129	14	133	133	0	strelka-varscan	ZP4,synonymous_variant,p.=,ENST00000611898,NM_021186.3;ZP4,synonymous_variant,p.=,ENST00000366570,;RP11-193H5.1,intron_variant,,ENST00000450451,;	C	ENST00000611898	Transcript	synonymous_variant	1025/2474	738/1623	246/540	R	agA/agG		1		-1	ZP4	HGNC	HGNC:15770	protein_coding	YES	CCDS1615.1	ENSP00000482304	Q12836		UPI000006F0E4	NM_021186.3			5/13		Pfam_domain:PF00100,Prints_domain:PR00023,PROSITE_profiles:PS51034,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,SMART_domains:SM00241																	LOW		SNV	5			1										PASS		.	.												C	2	2	62	237887377	237887377	T	C	1	0	0	0	0	0	0	0	1	18810	1681	58	5		5	ZP4	1	237887377	Silent	SNP	T	C3N-00580_TP	101352	237887377	11069045	111	19571											
ZNF695	0	.	GRCh38	chr1	246987640	246987640	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacatttgtatggtttctctCcagtatgaattttcttatgt	8	20	6	7	0	2	1	0	1	2	0	4	1	3	1	1	1	0	3	1	1	4	7	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.875G>T	p.Gly292Val	p.G292V	ENST00000339986	4/4	70	56	14	73	73	0	strelka-varscan	ZNF695,missense_variant,p.Gly292Val,ENST00000339986,NM_020394.4;ZNF695,intron_variant,,ENST00000487338,NM_001204221.1;ZNF695,intron_variant,,ENST00000498046,;ZNF670-ZNF695,intron_variant,,ENST00000474541,;ZNF670-ZNF695,intron_variant,,ENST00000465049,;ZNF695,intron_variant,,ENST00000479214,;ZNF695,intron_variant,,ENST00000366504,;ZNF695,intron_variant,,ENST00000491337,;	A	ENST00000339986	Transcript	missense_variant	1023/3340	875/1548	292/515	G/V	gGa/gTa		1		-1	ZNF695	HGNC	HGNC:30954	protein_coding	YES	CCDS44344.1	ENSP00000341236	Q8IW36		UPI0000F734A8	NM_020394.4	deleterious(0)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF119,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	246987640	246987640	C	A	1	0	0	0	0	1	0	0	0	18671	855	30	2		2	ZNF695	1	246987640	Missense_Mutation	SNP	C	C3N-00580_TP	9100263	246987640	1968782	112	19572											
OR2G3	0	.	GRCh38	chr1	247605639	247605639	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatccttctaggcttctcAgaccaccctcgtctggaggc	6	12	8	15	1	4	1	2	0	3	1	7	2	5	2	3	3	0	1	3	3	1	4	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.54A>G	p.=	p.S18S	ENST00000320002	1/1	142	128	14	90	90	0	strelka-varscan	OR2G3,synonymous_variant,p.=,ENST00000320002,NM_001001914.1;U6,downstream_gene_variant,,ENST00000637707,;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;	G	ENST00000320002	Transcript	synonymous_variant	54/930	54/930	18/309	S	tcA/tcG		1		1	OR2G3	HGNC	HGNC:15008	protein_coding	YES	CCDS31093.1	ENSP00000326301	Q8NGZ4	A0A126GVX0	UPI0000041CD9	NM_001001914.1			1/1		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF300,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW		SNV				1										PASS		.	.												G	2	3	62	247605639	247605639	A	G	1	0	0	0	0	0	0	0	1	11077	175	7	5		5	OR2G3	1	247605639	Silent	SNP	A	C3N-00580_TP	617999	247605639	1350783	113	19573											
OR2M4	0	.	GRCh38	chr1	248239612	248239612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcgagccgtcatccacatGggctctggggaaagtcgtcg	7	9	13	12	4	2	0	1	0	1	0	6	2	3	1	2	3	1	1	2	3	1	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.684G>T	p.Met228Ile	p.M228I	ENST00000306687	1/1	296	215	81	214	214	0	strelka-varscan	OR2M4,missense_variant,p.Met228Ile,ENST00000306687,NM_017504.1;	T	ENST00000306687	Transcript	missense_variant	684/936	684/936	228/311	M/I	atG/atT		1		1	OR2M4	HGNC	HGNC:8270	protein_coding	YES	CCDS31108.1	ENSP00000306688	Q96R27	A0A126GV73	UPI000004B233	NM_017504.1	deleterious(0.03)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF91,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	62	248239612	248239612	G	T	1	0	0	0	0	1	0	0	0	11090	1348	47	2		2	OR2M4	1	248239612	Missense_Mutation	SNP	G	C3N-00580_TP	633973	248239612	716810	114	19574											
OR2T33	0	.	GRCh38	chr1	248272985	248272985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagtaaaggggtgaacataGtatagaaggctgacacaacc	16	8	11	6	0	0	3	0	2	0	1	0	3	0	3	1	3	2	3	1	3	9	5	rs113045980		C3N-00580_TP	C3N-00580_NB	G	G																c.830C>A	p.Thr277Asn	p.T277N	ENST00000318021	1/1	473	381	92	351	351	0	strelka-varscan	OR2T33,missense_variant,p.Thr277Asn,ENST00000318021,NM_001004695.1;	T	ENST00000318021	Transcript	missense_variant	830/963	830/963	277/320	T/N	aCt/aAt	rs113045980	1		-1	OR2T33	HGNC	HGNC:31255	protein_coding	YES	CCDS31109.1	ENSP00000324687	Q8NG76		UPI000004B237	NM_001004695.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	62	248272985	248272985	G	T	1	0	0	0	0	1	0	0	0	11101	1029	36	2		2	OR2T33	1	248272985	Missense_Mutation	SNP	G	C3N-00580_TP	33373	248272985	683437	115	19575											
OR14C36	0	.	GRCh38	chr1	248349004	248349004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatttctgttacagtccCtacctcatgtgtcaattccc	8	15	4	14	0	3	0	2	0	1	0	5	0	5	0	3	0	3	1	3	0	4	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.230C>G	p.Pro77Arg	p.P77R	ENST00000317861	1/1	245	138	107	137	137	0	strelka-varscan	OR14C36,missense_variant,p.Pro77Arg,ENST00000317861,NM_001001918.1;	G	ENST00000317861	Transcript	missense_variant	230/939	230/939	77/312	P/R	cCt/cGt		1		1	OR14C36	HGNC	HGNC:15026	protein_coding	YES	CCDS31112.1	ENSP00000324534	Q8NHC7		UPI0000041CB1	NM_001001918.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF180,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	62	248349004	248349004	C	G	1	0	0	0	0	1	0	0	0	11023	681	24	4		4	OR14C36	1	248349004	Missense_Mutation	SNP	C	C3N-00580_TP	76019	248349004	607418	116	19576											
OR2T6	0	.	GRCh38	chr1	248387948	248387948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgggggctgaattcttcCtgctggggctcatggcctat	5	14	13	9	0	2	1	1	1	1	0	3	1	3	1	2	5	1	3	2	5	3	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.340C>A	p.Leu114Met	p.L114M	ENST00000355728	1/1	75	47	28	43	43	0	strelka-varscan	OR2T6,missense_variant,p.Leu114Met,ENST00000355728,NM_001005471.1;	A	ENST00000355728	Transcript	missense_variant	340/927	340/927	114/308	L/M	Ctg/Atg		1		1	OR2T6	HGNC	HGNC:15018	protein_coding	YES	CCDS31114.1	ENSP00000347965	Q8NHC8		UPI0000199147	NM_001005471.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	62	248387948	248387948	C	A	1	0	0	0	0	1	0	0	0	11106	680	24	2		2	OR2T6	1	248387948	Missense_Mutation	SNP	C	C3N-00580_TP	38944	248387948	568474	117	19577											
OR2T1	0	.	GRCh38	chr1	248406714	248406714	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgaagttggcatgtgcAgacacagccctctacgagac	10	8	11	12	1	1	3	0	1	1	2	2	4	2	3	2	1	3	3	2	1	2	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.720A>T	p.=	p.A240A	ENST00000366474	1/1	201	174	27	170	170	0	strelka-varscan	OR2T1,synonymous_variant,p.=,ENST00000366474,NM_030904.1;	T	ENST00000366474	Transcript	synonymous_variant	720/1110	720/1110	240/369	A	gcA/gcT		1		1	OR2T1	HGNC	HGNC:8277	protein_coding	YES	CCDS31115.1	ENSP00000355430	O43869	A0A126GVY3	UPI00003B2872	NM_030904.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF125,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	LOW	1	SNV				1										PASS		.	.												T	2	4	62	248406714	248406714	A	T	1	0	0	0	0	0	0	0	1	11094	175	7	4		4	OR2T1	1	248406714	Silent	SNP	A	C3N-00580_TP	18766	248406714	549708	118	19578											
OR2T3	0	.	GRCh38	chr1	248474225	248474225	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcactcctgtgctgaaccCcctcatttacagtctccgca	7	12	5	17	1	3	1	2	1	1	0	5	1	4	1	4	0	3	2	4	0	2	3			C3N-00580_TP	C3N-00580_NB	C	C																c.875C>G	p.Pro292Arg	p.P292R	ENST00000359594	1/1	592	449	143	391	391	0	strelka-varscan	OR2T3,missense_variant,p.Pro292Arg,ENST00000359594,NM_001005495.1;	G	ENST00000359594	Transcript	missense_variant	875/957	875/957	292/318	P/R	cCc/cGc	COSM3487220	1		1	OR2T3	HGNC	HGNC:14727	protein_coding	YES	CCDS31117.1	ENSP00000352604	Q8NH03	A0A126GVW5	UPI00001D7CA5	NM_001005495.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF4,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237											1						MODERATE	1	SNV			1	1										PASS		.	.												G	3	3	62	248474225	248474225	C	G	1	0	0	0	0	1	0	0	0	11100	623	22	4		4	OR2T3	1	248474225	Missense_Mutation	SNP	C	C3N-00580_TP	67511	248474225	482197	119	19579											
TPO	0	.	GRCh38	chr2	1477517	1477517	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgagcacaaccgcctGgccgcggcgctcaaggccct	6	4	13	18	6	1	0	1	0	0	0	1	1	1	0	4	3	3	2	4	3	2	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1251G>T	p.=	p.L417L	ENST00000345913	8/17	267	165	102	525	524	1	strelka-varscan-mutect	TPO,synonymous_variant,p.=,ENST00000422464,;TPO,synonymous_variant,p.=,ENST00000345913,NM_000547.5;TPO,synonymous_variant,p.=,ENST00000329066,NM_001206744.1;TPO,synonymous_variant,p.=,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,synonymous_variant,p.=,ENST00000346956,NM_175721.3;TPO,intron_variant,,ENST00000382198,NM_175722.3;TPO,intron_variant,,ENST00000497517,;	T	ENST00000345913	Transcript	synonymous_variant	1342/3145	1251/2802	417/933	L	ctG/ctT		1		1	TPO	HGNC	HGNC:12015	protein_coding	YES	CCDS1643.1	ENSP00000318820	P07202		UPI000013D480	NM_000547.5			8/17		Low_complexity_(Seg):seg,PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF60,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	1477517	1477517	G	T	1	0	0	0	0	0	0	0	1	16891	1335	47	2		2	TPO	2	1477517	Silent	SNP	G	C3N-00580_TP		1477517	240716012	120	19580											
PXDN	0	.	GRCh38	chr2	1676978	1676978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttgccttcggctctgcagGtgaagtacacggtgttcccc	5	11	13	12	2	1	1	0	1	1	0	3	1	2	1	3	4	3	5	3	4	2	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.797C>T	p.Thr266Ile	p.T266I	ENST00000252804	8/23	180	94	86	184	184	0	strelka-varscan-mutect	PXDN,missense_variant,p.Thr266Ile,ENST00000252804,NM_012293.2;PXDN,missense_variant,p.Thr262Ile,ENST00000433670,;PXDN,missense_variant,p.Thr190Ile,ENST00000447941,;PXDN,downstream_gene_variant,,ENST00000425171,;PXDN,upstream_gene_variant,,ENST00000483018,;PXDN,upstream_gene_variant,,ENST00000467191,;PXDN,upstream_gene_variant,,ENST00000477810,;PXDN,downstream_gene_variant,,ENST00000485177,;PXDN,upstream_gene_variant,,ENST00000478155,;	A	ENST00000252804	Transcript	missense_variant	848/6808	797/4440	266/1479	T/I	aCc/aTc		1		-1	PXDN	HGNC	HGNC:14966	protein_coding	YES	CCDS46221.1	ENSP00000252804	Q92626		UPI00001C1DC2	NM_012293.2	deleterious(0.03)		8/23		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	1676978	1676978	G	A	1	0	0	0	0	1	0	0	0	13001	1261	44	3		3	PXDN	2	1676978	Missense_Mutation	SNP	G	C3N-00580_TP	199461	1676978	240516551	121	19581											
OSR1	0	.	GRCh38	chr2	19353722	19353722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcactgtgggcaggccGttcactgcctgaaggaagga	10	6	16	9	1	1	1	1	1	0	0	1	4	1	3	2	5	1	3	2	5	3	1			C3N-00580_TP	C3N-00580_NB	G	G																c.84C>A	p.Asn28Lys	p.N28K	ENST00000272223	2/3	260	230	30	219	219	0	strelka-varscan-mutect	OSR1,missense_variant,p.Asn28Lys,ENST00000272223,NM_145260.2;OSR1,downstream_gene_variant,,ENST00000498844,;OSR1,non_coding_transcript_exon_variant,,ENST00000487581,;	T	ENST00000272223	Transcript	missense_variant	429/1936	84/801	28/266	N/K	aaC/aaA	COSM3743494	1		-1	OSR1	HGNC	HGNC:8111	protein_coding	YES	CCDS1694.1	ENSP00000272223	Q8TAX0		UPI000006EA6A	NM_145260.2	deleterious_low_confidence(0.01)		2/3		hmmpanther:PTHR14196,hmmpanther:PTHR14196:SF5											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	62	19353722	19353722	G	T	1	0	0	0	0	1	0	0	0	11360	1136	40	1		1	OSR1	2	19353722	Missense_Mutation	SNP	G	C3N-00580_TP	17676744	19353722	222839807	122	19582											
APOB	0	.	GRCh38	chr2	21033504	21033504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgctctcaaatgcgaggcCcatcttcttagtacctggaa	9	11	10	11	1	3	0	1	0	3	0	4	2	3	1	2	3	3	2	2	3	4	3	rs770369582		C3N-00580_TP	C3N-00580_NB	C	C																c.919G>T	p.Gly307Cys	p.G307C	ENST00000233242	9/29	415	240	175	365	365	0	strelka-varscan-mutect	APOB,missense_variant,p.Gly307Cys,ENST00000233242,NM_000384.2;APOB,missense_variant,p.Gly307Cys,ENST00000399256,;	A	ENST00000233242	Transcript	missense_variant	1047/14121	919/13692	307/4563	G/C	Ggc/Tgc	rs770369582,COSM1136594	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	deleterious(0)		9/29		PROSITE_profiles:PS51211,hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Pfam_domain:PF01347,SMART_domains:SM00638,Superfamily_domains:SSF56968											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs770369582	.												A	3	1	62	21033504	21033504	C	A	1	0	0	0	0	1	0	0	0	907	623	22	2		2	APOB	2	21033504	Missense_Mutation	SNP	C	C3N-00580_TP	1679782	21033504	221160025	123	19583											
CGREF1	0	.	GRCh38	chr2	27101421	27101421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttcccctctgggcccGggggcatctccttcagcctc	3	9	10	19	1	3	0	1	0	2	0	6	0	4	0	6	3	2	2	6	3	0	2	rs1057393		C3N-00580_TP	C3N-00580_NB	G	G																c.810C>T	p.=	p.P270P	ENST00000402394	6/6	95	83	12	50	50	0	varscan-mutect	CGREF1,synonymous_variant,p.=,ENST00000402394,NM_006569.5;CGREF1,synonymous_variant,p.=,ENST00000312734,;CGREF1,synonymous_variant,p.=,ENST00000404694,;CGREF1,synonymous_variant,p.=,ENST00000405600,NM_001166239.1;CGREF1,synonymous_variant,p.=,ENST00000260595,;CGREF1,intron_variant,,ENST00000402550,NM_001166240.1;KHK,downstream_gene_variant,,ENST00000260599,NM_000221.2;KHK,downstream_gene_variant,,ENST00000260598,NM_006488.2;KHK,downstream_gene_variant,,ENST00000429697,;KHK,downstream_gene_variant,,ENST00000490823,;CGREF1,intron_variant,,ENST00000440612,;KHK,downstream_gene_variant,,ENST00000464371,;KHK,downstream_gene_variant,,ENST00000469936,;CGREF1,downstream_gene_variant,,ENST00000467539,;	A	ENST00000402394	Transcript	synonymous_variant	1079/1906	810/957	270/318	P	ccC/ccT	rs1057393	1		-1	CGREF1	HGNC	HGNC:16962	protein_coding	YES	CCDS33162.2	ENSP00000385452	Q99674		UPI000013D0EB	NM_006569.5			6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR23104,hmmpanther:PTHR23104:SF11																	LOW		SNV	2			1										PASS		rs1057393	.												A	2	1	62	27101421	27101421	G	A	1	0	0	0	0	0	0	0	1	3063	1103	39	1		1	CGREF1	2	27101421	Silent	SNP	G	C3N-00580_TP	6067917	27101421	215092108	124	19584											
C2orf71	0	.	GRCh38	chr2	29074082	29074082	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcctgggacttggctgCtcctctgccaggccctcccc	2	11	9	19	0	1	0	0	0	1	0	5	1	5	1	7	3	2	2	7	3	0	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.180G>C	p.Glu60Asp	p.E60D	ENST00000331664	1/2	546	289	257	372	372	0	strelka-varscan	C2orf71,missense_variant,p.Glu60Asp,ENST00000331664,NM_001029883.2;	G	ENST00000331664	Transcript	missense_variant	180/7044	180/3867	60/1288	E/D	gaG/gaC		1		-1	C2orf71	HGNC	HGNC:34383	protein_coding	YES	CCDS42669.1	ENSP00000332809	A6NGG8		UPI0000251DD8	NM_001029883.2	tolerated(0.11)		1/2		Pfam_domain:PF15449,hmmpanther:PTHR22017																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	62	29074082	29074082	C	G	1	0	0	0	0	1	0	0	0	2045	796	28	4		4	C2orf71	2	29074082	Missense_Mutation	SNP	C	C3N-00580_TP	1972661	29074082	213119447	125	19585											
C2orf71	0	.	GRCh38	chr2	29074093	29074093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttggctgctcctctgccaGgccctccccagcgtcatagc	5	9	9	18	1	2	0	1	0	1	0	4	0	4	0	5	2	4	2	5	2	1	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.169C>A	p.Leu57Met	p.L57M	ENST00000331664	1/2	473	260	213	337	337	0	strelka-varscan	C2orf71,missense_variant,p.Leu57Met,ENST00000331664,NM_001029883.2;	T	ENST00000331664	Transcript	missense_variant	169/7044	169/3867	57/1288	L/M	Ctg/Atg		1		-1	C2orf71	HGNC	HGNC:34383	protein_coding	YES	CCDS42669.1	ENSP00000332809	A6NGG8		UPI0000251DD8	NM_001029883.2	tolerated(0.08)		1/2		Pfam_domain:PF15449,hmmpanther:PTHR22017																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	62	29074093	29074093	G	T	1	0	0	0	0	1	0	0	0	2045	991	35	2		2	C2orf71	2	29074093	Missense_Mutation	SNP	G	C3N-00580_TP	11	29074093	213119436	126	19586											
ALK	0	.	GRCh38	chr2	29296960	29296960	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcataggcggcgacatgcCagaccatcctgccttgctcc	7	9	9	16	2	1	1	1	0	0	1	3	2	3	1	5	2	3	1	5	2	1	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1745G>T	p.Trp582Leu	p.W582L	ENST00000389048	9/29	429	280	149	380	380	0	strelka-varscan	ALK,missense_variant,p.Trp582Leu,ENST00000389048,NM_004304.4;ALK,missense_variant,p.Trp205Leu,ENST00000618119,;ALK,non_coding_transcript_exon_variant,,ENST00000498037,;	A	ENST00000389048	Transcript	missense_variant	2652/6220	1745/4863	582/1620	W/L	tGg/tTg		1		-1	ALK	HGNC	HGNC:427	protein_coding	YES	CCDS33172.1	ENSP00000373700	Q9UM73		UPI00001684DA	NM_004304.4	deleterious(0)		9/29		PROSITE_profiles:PS50060,Pfam_domain:PF00629,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	29296960	29296960	C	A	1	0	0	0	0	1	0	0	0	625	595	21	2		2	ALK	2	29296960	Missense_Mutation	SNP	C	C3N-00580_TP	222867	29296960	212896569	127	19587											
EHD3	0	.	GRCh38	chr2	31266288	31266288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagctcatggtgctagtgCgccaggaggagtcacagcgg	8	6	15	12	2	2	0	2	0	0	0	2	2	2	2	2	4	4	2	2	4	1	1	rs144717418		C3N-00580_TP	C3N-00580_NB	C	C																c.1192C>T	p.Arg398Cys	p.R398C	ENST00000322054	6/6	355	266	89	225	225	0	strelka-varscan	EHD3,missense_variant,p.Arg398Cys,ENST00000322054,NM_014600.2;	T	ENST00000322054	Transcript	missense_variant	1477/4636	1192/1608	398/535	R/C	Cgc/Tgc	rs144717418	1		1	EHD3	HGNC	HGNC:3244	protein_coding	YES	CCDS1774.1	ENSP00000327116	Q9NZN3		UPI0000140D07	NM_014600.2	deleterious(0.01)		6/6		hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF67																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	31266288	31266288	C	T	1	0	0	0	0	1	0	0	0	4815	768	27	1		1	EHD3	2	31266288	Missense_Mutation	SNP	C	C3N-00580_TP	1969328	31266288	210927241	128	19588											
SRD5A2	0	.	GRCh38	chr2	31580885	31580885	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcactgggctctgctGgcactgaacctgcatcgcgc	6	8	12	15	2	1	1	0	1	1	0	2	1	1	1	2	2	5	5	2	2	1	0	rs9332960		C3N-00580_TP	C3N-00580_NB	G	G																c.16C>G	p.Gln6Glu	p.Q6E	ENST00000622030	1/5	183	137	46	127	127	0	strelka-varscan	SRD5A2,missense_variant,p.Gln6Glu,ENST00000622030,NM_000348.3;	C	ENST00000622030	Transcript	missense_variant	183/4648	16/765	6/254	Q/E	Cag/Gag	rs9332960	1		-1	SRD5A2	HGNC	HGNC:11285	protein_coding	YES	CCDS74503.1	ENSP00000477587	P31213		UPI000017954A	NM_000348.3	tolerated(0.17)		1/5		PIRSF_domain:PIRSF015596																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	31580885	31580885	G	C	1	0	0	0	0	1	0	0	0	15496	1357	47	4		4	SRD5A2	2	31580885	Missense_Mutation	SNP	G	C3N-00580_TP	314597	31580885	210612644	129	19589											
LTBP1	0	.	GRCh38	chr2	33134958	33134958	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggccacgaacttccgagTgggtgagttcctccacggtc	7	8	13	13	4	0	1	0	1	0	0	4	4	3	1	4	3	1	1	4	3	1	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1199T>A	p.Val400Glu	p.V400E	ENST00000404816	5/34	103	75	28	91	91	0	strelka-varscan	LTBP1,missense_variant,p.Val400Glu,ENST00000404816,NM_206943.2;LTBP1,missense_variant,p.Val74Glu,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,missense_variant,p.Val74Glu,ENST00000404525,NM_001166265.1;LTBP1,missense_variant,p.Val74Glu,ENST00000407925,NM_000627.3;LTBP1,missense_variant,p.Val74Glu,ENST00000402934,;LTBP1,splice_region_variant,,ENST00000432635,;	A	ENST00000404816	Transcript	missense_variant,splice_region_variant	1552/6333	1199/5166	400/1721	V/E	gTg/gAg		1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2	deleterious(0)		5/34		PROSITE_profiles:PS50026,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF39																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	33134958	33134958	T	A	1	0	0	0	0	1	0	0	0	8979	1710	59	4		4	LTBP1	2	33134958	Missense_Mutation	SNP	T	C3N-00580_TP	1554073	33134958	209058571	130	19590											
LTBP1	0	.	GRCh38	chr2	33257329	33257329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatgggttatacggtttCtggcgttcatagacgcaggc	8	12	14	7	3	2	1	1	0	1	1	2	2	2	2	0	5	1	4	0	5	4	5	rs765745245		C3N-00580_TP	C3N-00580_NB	C	C																c.2213C>A	p.Ser738Tyr	p.S738Y	ENST00000404816	12/34	404	315	89	260	260	0	strelka-varscan	LTBP1,missense_variant,p.Ser738Tyr,ENST00000404816,NM_206943.2;LTBP1,missense_variant,p.Ser412Tyr,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,missense_variant,p.Ser412Tyr,ENST00000407925,NM_000627.3;LTBP1,missense_variant,p.Ser55Tyr,ENST00000468091,;LTBP1,intron_variant,,ENST00000404525,NM_001166265.1;LTBP1,intron_variant,,ENST00000402934,;LTBP1,intron_variant,,ENST00000413303,;	A	ENST00000404816	Transcript	missense_variant	2566/6333	2213/5166	738/1721	S/Y	tCt/tAt	rs765745245	1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2	deleterious(0)		12/34		hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF39,Superfamily_domains:SSF57581																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	33257329	33257329	C	A	1	0	0	0	0	1	0	0	0	8979	913	32	2		2	LTBP1	2	33257329	Missense_Mutation	SNP	C	C3N-00580_TP	122371	33257329	208936200	131	19591											
SLC3A1	0	.	GRCh38	chr2	44320400	44320400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaatcaacactgttaaatCtacataatatgatttcgggc	15	12	7	7	1	2	2	1	1	1	1	3	3	2	2	0	1	2	1	0	1	7	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1819C>G	p.Leu607Val	p.L607V	ENST00000260649	10/10	618	452	166	413	413	0	strelka-varscan	SLC3A1,missense_variant,p.Leu607Val,ENST00000260649,NM_000341.3;SLC3A1,missense_variant,p.Leu329Val,ENST00000409380,;SLC3A1,missense_variant,p.Leu238Val,ENST00000409740,;PREPL,3_prime_UTR_variant,,ENST00000541738,NM_001171617.1;PREPL,3_prime_UTR_variant,,ENST00000409936,NM_001171606.1;PREPL,3_prime_UTR_variant,,ENST00000409411,NM_001171613.1;PREPL,3_prime_UTR_variant,,ENST00000409957,;PREPL,3_prime_UTR_variant,,ENST00000444696,;PREPL,downstream_gene_variant,,ENST00000260648,NM_006036.4;PREPL,downstream_gene_variant,,ENST00000410081,;PREPL,downstream_gene_variant,,ENST00000409272,NM_001171603.1;SLC3A1,downstream_gene_variant,,ENST00000409387,;PREPL,downstream_gene_variant,,ENST00000378511,NM_001042385.2;PREPL,downstream_gene_variant,,ENST00000378520,NM_001042386.2;SLC3A1,downstream_gene_variant,,ENST00000611973,;PREPL,downstream_gene_variant,,ENST00000420756,;PREPL,3_prime_UTR_variant,,ENST00000426481,;PREPL,3_prime_UTR_variant,,ENST00000425263,;	G	ENST00000260649	Transcript	missense_variant	1895/2989	1819/2058	607/685	L/V	Cta/Gta		1		1	SLC3A1	HGNC	HGNC:11025	protein_coding	YES	CCDS1819.1	ENSP00000260649	Q07837	A0A0S2Z4E1	UPI000013D0F2	NM_000341.3	deleterious(0.03)		10/10		hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF73																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	44320400	44320400	C	G	1	0	0	0	0	1	0	0	0	14904	912	32	4		4	SLC3A1	2	44320400	Missense_Mutation	SNP	C	C3N-00580_TP	11063071	44320400	197873129	132	19592											
CAMKMT	0	.	GRCh38	chr2	44706310	44706310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttgctgtgtgtgagctagGgggtggcatgacatgcttgg	5	12	17	7	0	0	2	0	2	0	0	0	2	0	2	1	4	3	4	1	4	1	3	rs533364037		C3N-00580_TP	C3N-00580_NB	G	G																c.461G>T	p.Gly154Val	p.G154V	ENST00000378494	5/11	380	254	126	248	248	0	strelka-varscan	CAMKMT,missense_variant,p.Gly154Val,ENST00000378494,NM_024766.4;CAMKMT,missense_variant,p.Gly28Val,ENST00000613618,;CAMKMT,non_coding_transcript_exon_variant,,ENST00000477830,;	T	ENST00000378494	Transcript	missense_variant	505/1495	461/972	154/323	G/V	gGg/gTg	rs533364037	1		1	CAMKMT	HGNC	HGNC:26276	protein_coding	YES	CCDS1820.1	ENSP00000367755	Q7Z624		UPI0000070B33	NM_024766.4	deleterious(0)		5/11		Gene3D:3.40.50.150,Pfam_domain:PF10294,PROSITE_profiles:PS51610,hmmpanther:PTHR13539,hmmpanther:PTHR13539:SF5,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	44706310	44706310	G	T	1	0	0	0	0	1	0	0	0	2299	1232	43	2		2	CAMKMT	2	44706310	Missense_Mutation	SNP	G	C3N-00580_TP	385910	44706310	197487219	133	19593											
NRXN1	0	.	GRCh38	chr2	50236900	50236900	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctgtctgctcgtgtactGggtcggtcattaggaggcca	6	12	14	9	2	3	0	1	0	2	0	5	1	3	1	1	4	2	2	1	4	2	2			C3N-00580_TP	C3N-00580_NB	G	G																c.3555C>A	p.=	p.P1185P	ENST00000404971	19/24	308	273	35	299	299	0	strelka-varscan	NRXN1,synonymous_variant,p.=,ENST00000406316,NM_004801.4;NRXN1,synonymous_variant,p.=,ENST00000625672,;NRXN1,synonymous_variant,p.=,ENST00000404971,NM_001135659.1;NRXN1,synonymous_variant,p.=,ENST00000401669,;NRXN1,synonymous_variant,p.=,ENST00000405472,;NRXN1,synonymous_variant,p.=,ENST00000630543,;NRXN1,synonymous_variant,p.=,ENST00000342183,NM_138735.2;NRXN1,synonymous_variant,p.=,ENST00000401710,;NRXN1,synonymous_variant,p.=,ENST00000628364,;NRXN1,synonymous_variant,p.=,ENST00000625320,;NRXN1,5_prime_UTR_variant,,ENST00000611589,;NRXN1,non_coding_transcript_exon_variant,,ENST00000636298,;NRXN1,non_coding_transcript_exon_variant,,ENST00000637889,;NRXN1,non_coding_transcript_exon_variant,,ENST00000635264,;NRXN1,upstream_gene_variant,,ENST00000636736,;NRXN1,downstream_gene_variant,,ENST00000636818,;NRXN1,synonymous_variant,p.=,ENST00000331040,;NRXN1,synonymous_variant,p.=,ENST00000637906,;	T	ENST00000404971	Transcript	synonymous_variant	4895/7578	3555/4644	1185/1547	P	ccC/ccA	COSM3962890,COSM3962891,COSM3962892,COSM3962893,COSM3962894	1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1			19/24		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Superfamily_domains:SSF49899											1,1,1,1,1						LOW	1	SNV	1		1,1,1,1,1	1										PASS		.	.												T	2	4	62	50236900	50236900	G	T	1	0	0	0	0	0	0	0	1	10724	1335	47	2		2	NRXN1	2	50236900	Silent	SNP	G	C3N-00580_TP	5530590	50236900	191956629	134	19594											
PLEK	0	.	GRCh38	chr2	68393213	68393213	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttcatcttgagagaagacCctgcctacctgcactactat	11	11	7	12	0	2	3	1	1	1	2	2	4	2	3	3	0	4	2	3	0	4	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.814C>A	p.Pro272Thr	p.P272T	ENST00000234313	7/9	355	284	71	262	262	0	strelka-varscan	PLEK,missense_variant,p.Pro272Thr,ENST00000234313,NM_002664.2;PLEK,non_coding_transcript_exon_variant,,ENST00000474788,;	A	ENST00000234313	Transcript	missense_variant	993/2869	814/1053	272/350	P/T	Cct/Act		1		1	PLEK	HGNC	HGNC:9070	protein_coding	YES	CCDS1887.1	ENSP00000234313	P08567		UPI00002085C1	NM_002664.2	deleterious(0)		7/9		PROSITE_profiles:PS50003,hmmpanther:PTHR12092,hmmpanther:PTHR12092:SF1,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	68393213	68393213	C	A	1	0	0	0	0	1	0	0	0	12146	623	22	2		2	PLEK	2	68393213	Missense_Mutation	SNP	C	C3N-00580_TP	18156313	68393213	173800316	135	19595											
ADD2	0	.	GRCh38	chr2	70674777	70674777	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccgtctcctctgaatCgtctttggtatcctcgtctc	4	14	9	14	3	4	1	0	1	4	0	9	1	5	1	3	2	0	2	3	2	2	2			C3N-00580_TP	C3N-00580_NB	C	C																c.1642G>T	p.Asp548Tyr	p.D548Y	ENST00000264436	14/16	214	152	62	222	222	0	strelka-varscan	ADD2,missense_variant,p.Asp548Tyr,ENST00000264436,NM_001617.3;ADD2,missense_variant,p.Asp548Tyr,ENST00000407644,NM_001185054.1;ADD2,missense_variant,p.Asp548Tyr,ENST00000355733,NM_017488.3;ADD2,missense_variant,p.Asp300Tyr,ENST00000456320,;ADD2,missense_variant,p.Asp242Tyr,ENST00000522886,;ADD2,downstream_gene_variant,,ENST00000413157,NM_017482.3;ADD2,downstream_gene_variant,,ENST00000430656,NM_001185055.1;ADD2,missense_variant,p.Asp548Tyr,ENST00000403045,;ADD2,upstream_gene_variant,,ENST00000481675,;	A	ENST00000264436	Transcript	missense_variant	2087/9267	1642/2181	548/726	D/Y	Gat/Tat	COSM3582805,COSM3582806	1		-1	ADD2	HGNC	HGNC:244	protein_coding	YES	CCDS1906.1	ENSP00000264436	P35612		UPI0000125503	NM_001617.3	deleterious(0.05)		14/16		hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF6											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	62	70674777	70674777	C	A	1	0	0	0	0	1	0	0	0	349	884	31	1		1	ADD2	2	70674777	Missense_Mutation	SNP	C	C3N-00580_TP	2281564	70674777	171518752	136	19596											
MPHOSPH10	0	.	GRCh38	chr2	71133018	71133018	+	Frame_Shift_Del	DEL	T	T	-																															caaaaacttgtgatagaaaaTtttgatgatgagcagatttg																								novel		C3N-00580_TP	C3N-00580_NB	T	T																c.213delT	p.Phe71LeufsTer52	p.F71Lfs*52	ENST00000244230	2/11	333	268	65	252	252	0	sindel-varindel-pindel	MPHOSPH10,frameshift_variant,p.Phe71LeufsTer52,ENST00000244230,NM_005791.2;MPHOSPH10,frameshift_variant,p.Phe71LeufsTer52,ENST00000498451,;MCEE,upstream_gene_variant,,ENST00000494660,;MCEE,upstream_gene_variant,,ENST00000244217,NM_032601.3;MCEE,upstream_gene_variant,,ENST00000486135,;MPHOSPH10,non_coding_transcript_exon_variant,,ENST00000468427,;	-	ENST00000244230	Transcript	frameshift_variant	562/2484	210/2046	70/681	N/X	aaT/aa		1		1	MPHOSPH10	HGNC	HGNC:7213	protein_coding	YES	CCDS1916.1	ENSP00000244230	O00566		UPI000012F41D	NM_005791.2			2/11		hmmpanther:PTHR17039,hmmpanther:PTHR17039:SF1,Pfam_domain:PF04006,PIRSF_domain:PIRSF017300																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	62	71133018	71133018	T	-	1	0	1	0	1	0	0	0	0	9690	1490	52	0		0	MPHOSPH10	2	71133018	Frame_Shift_Del	DEL	T	C3N-00580_TP	458241	71133018	171060511	137	19597											
ALMS1	0	.	GRCh38	chr2	73450586	73450586	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgccacatagtcatccAactgaagaggctctgaaaat	13	10	8	10	0	3	3	1	2	2	1	4	3	4	3	2	1	2	1	2	1	5	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.4059A>T	p.=	p.P1353P	ENST00000613296	8/23	428	289	139	267	266	1	strelka-varscan	ALMS1,synonymous_variant,p.=,ENST00000613296,NM_015120.4;ALMS1,synonymous_variant,p.=,ENST00000484298,;ALMS1,synonymous_variant,p.=,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000620466,;ALMS1,upstream_gene_variant,,ENST00000423048,;	T	ENST00000613296	Transcript	synonymous_variant	4170/12925	4059/12507	1353/4168	P	ccA/ccT		1		1	ALMS1	HGNC	HGNC:428	protein_coding	YES	CCDS42697.1	ENSP00000482968		A0A087WZY3	UPI00046209B2	NM_015120.4			8/23																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	73450586	73450586	A	T	1	0	0	0	0	0	0	0	1	635	117	5	4		4	ALMS1	2	73450586	Silent	SNP	A	C3N-00580_TP	2317568	73450586	168742943	138	19598											
CCDC142	0	.	GRCh38	chr2	74475394	74475394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatactcactaggagcacTgggaggttctggaatagaga	13	8	13	7	0	2	1	1	0	1	1	2	5	2	4	0	4	3	3	0	4	4	4	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1606A>G	p.Ser536Gly	p.S536G	ENST00000290418	7/9	76	46	30	64	64	0	strelka-varscan	CCDC142,missense_variant,p.Ser543Gly,ENST00000393965,;CCDC142,missense_variant,p.Ser536Gly,ENST00000290418,NM_032779.3;MRPL53,upstream_gene_variant,,ENST00000258105,NM_053050.4;MRPL53,upstream_gene_variant,,ENST00000409710,;CCDC142,missense_variant,p.Ser445Gly,ENST00000454193,;CCDC142,non_coding_transcript_exon_variant,,ENST00000473278,;CCDC142,non_coding_transcript_exon_variant,,ENST00000497232,;CCDC142,non_coding_transcript_exon_variant,,ENST00000486335,;MRPL53,upstream_gene_variant,,ENST00000468875,;MRPL53,upstream_gene_variant,,ENST00000467349,;	C	ENST00000290418	Transcript	missense_variant	1765/2835	1606/2232	536/743	S/G	Agt/Ggt		1		-1	CCDC142	HGNC	HGNC:25889	protein_coding	YES	CCDS1945.1	ENSP00000290418	Q17RM4		UPI000013CFB5	NM_032779.3	deleterious(0.05)		7/9		Pfam_domain:PF14923,hmmpanther:PTHR21436																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	62	74475394	74475394	T	C	1	0	0	0	0	1	0	0	0	2464	1580	55	5		5	CCDC142	2	74475394	Missense_Mutation	SNP	T	C3N-00580_TP	1024808	74475394	167718135	139	19599											
DQX1	0	.	GRCh38	chr2	74523349	74523349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcgatgacatgttggatGgaagggagggagaaggagaa	14	6	19	2	1	0	3	0	1	0	2	1	10	0	6	0	5	0	1	0	5	3	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1005C>T	p.=	p.S335S	ENST00000404568	5/12	637	369	268	506	506	0	strelka-varscan	DQX1,synonymous_variant,p.=,ENST00000404568,NM_133637.2;DQX1,synonymous_variant,p.=,ENST00000393951,;AUP1,downstream_gene_variant,,ENST00000377526,NM_181575.4;DQX1,downstream_gene_variant,,ENST00000451518,;DQX1,non_coding_transcript_exon_variant,,ENST00000495597,;DQX1,downstream_gene_variant,,ENST00000498552,;DQX1,synonymous_variant,p.=,ENST00000418139,;DQX1,non_coding_transcript_exon_variant,,ENST00000473508,;AUP1,downstream_gene_variant,,ENST00000466894,;AUP1,downstream_gene_variant,,ENST00000463900,;AUP1,downstream_gene_variant,,ENST00000425118,;AUP1,downstream_gene_variant,,ENST00000486234,;AUP1,downstream_gene_variant,,ENST00000464887,;DQX1,upstream_gene_variant,,ENST00000483555,;AUP1,downstream_gene_variant,,ENST00000462297,;	A	ENST00000404568	Transcript	synonymous_variant	1225/2689	1005/2154	335/717	S	tcC/tcT		1		-1	DQX1	HGNC	HGNC:20410	protein_coding	YES	CCDS1949.2	ENSP00000384621	Q8TE96		UPI0000208758	NM_133637.2			5/12		PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF108,Superfamily_domains:SSF52540																	LOW		SNV	5			1										PASS		.	.												A	2	1	62	74523349	74523349	G	A	1	0	0	0	0	0	0	0	1	4566	1335	47	3		3	DQX1	2	74523349	Silent	SNP	G	C3N-00580_TP	47955	74523349	167670180	140	19600											
M1AP	0	.	GRCh38	chr2	74560208	74560208	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccctgaggcttggcataGatgctgctcaggtgtgagta	7	10	14	10	1	1	3	1	2	0	1	1	3	1	3	2	3	2	5	2	3	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1365C>A	p.=	p.I455I	ENST00000290536	9/11	162	106	56	179	179	0	strelka-varscan	M1AP,synonymous_variant,p.=,ENST00000290536,NM_138804.4;M1AP,synonymous_variant,p.=,ENST00000536235,NM_001321739.1,NM_001281296.1;M1AP,synonymous_variant,p.=,ENST00000409585,;DOK1,downstream_gene_variant,,ENST00000233668,NM_001318866.1,NM_001381.3;DOK1,downstream_gene_variant,,ENST00000409429,NM_001197260.1;DOK1,downstream_gene_variant,,ENST00000340004,;LOXL3,upstream_gene_variant,,ENST00000413469,;M1AP,non_coding_transcript_exon_variant,,ENST00000464686,;M1AP,intron_variant,,ENST00000485997,;DOK1,downstream_gene_variant,,ENST00000480318,;DOK1,downstream_gene_variant,,ENST00000489958,;DOK1,downstream_gene_variant,,ENST00000496966,;DOK1,downstream_gene_variant,,ENST00000485132,;DOK1,downstream_gene_variant,,ENST00000488613,;DOK1,downstream_gene_variant,,ENST00000464613,;DOK1,downstream_gene_variant,,ENST00000429631,;DOK1,downstream_gene_variant,,ENST00000482206,;DOK1,downstream_gene_variant,,ENST00000474924,;DOK1,downstream_gene_variant,,ENST00000475191,;	T	ENST00000290536	Transcript	synonymous_variant	1482/2543	1365/1593	455/530	I	atC/atA		1		-1	M1AP	HGNC	HGNC:25183	protein_coding	YES	CCDS33229.1	ENSP00000290536	Q8TC57		UPI0000072570	NM_138804.4			9/11		hmmpanther:PTHR28642,hmmpanther:PTHR28642:SF1																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	74560208	74560208	G	T	1	0	0	0	0	0	0	0	1	9053	932	33	2		2	M1AP	2	74560208	Silent	SNP	G	C3N-00580_TP	36859	74560208	167633321	141	19601											
CTNNA2	0	.	GRCh38	chr2	79651634	79651634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggacgctaacagtggaaagGctgttggagccacttgttac	10	9	13	9	2	0	0	0	0	0	0	0	3	0	3	1	4	3	4	1	4	3	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.78G>T	p.Arg26Ser	p.R26S	ENST00000402739	1/18	367	313	54	217	217	0	strelka-varscan	CTNNA2,missense_variant,p.Arg26Ser,ENST00000466387,;CTNNA2,missense_variant,p.Arg26Ser,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Arg26Ser,ENST00000402739,NM_001282597.2;CTNNA2,missense_variant,p.Arg26Ser,ENST00000629316,NM_001164883.1;CTNNA2,missense_variant,p.Arg26Ser,ENST00000409971,;CTNNA2,missense_variant,p.Arg26Ser,ENST00000451966,;CTNNA2,missense_variant,p.Arg26Ser,ENST00000409266,;MIR4264,upstream_gene_variant,,ENST00000583520,;	T	ENST00000402739	Transcript	missense_variant	83/3684	78/2862	26/953	R/S	agG/agT		1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2	deleterious(0.02)		1/18		Pfam_domain:PF01044,Prints_domain:PR00805,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	79651634	79651634	G	T	1	0	0	0	0	1	0	0	0	3822	1194	42	2		2	CTNNA2	2	79651634	Missense_Mutation	SNP	G	C3N-00580_TP	5091426	79651634	162541895	142	19602											
ZNF2	0	.	GRCh38	chr2	95181290	95181290	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatccctctcccgggacaaAggcttgcggcgacggtcagc	9	6	12	14	4	2	0	1	0	1	0	4	2	3	1	2	4	2	1	2	4	2	1	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.501A>T	p.Lys167Asn	p.K167N	ENST00000611147	5/5	225	126	99	187	187	0	strelka-varscan	ZNF2,missense_variant,p.Lys112Asn,ENST00000617923,NM_001017396.2;ZNF2,missense_variant,p.Lys74Asn,ENST00000611463,NM_001291604.1;ZNF2,missense_variant,p.Lys154Asn,ENST00000614034,NM_021088.3;ZNF2,missense_variant,p.Lys116Asn,ENST00000622059,NM_001282398.1;ZNF2,missense_variant,p.Lys167Asn,ENST00000611147,NM_001291605.1;	T	ENST00000611147	Transcript	missense_variant	584/1465	501/1317	167/438	K/N	aaA/aaT		1		1	ZNF2	HGNC	HGNC:12991	protein_coding	YES	CCDS77434.1	ENSP00000482030		A0A087WYR5	UPI0004438063	NM_001291605.1	tolerated(0.1)		5/5		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF364																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	62	95181290	95181290	A	T	1	0	0	0	0	1	0	0	0	18337	69	3	4		4	ZNF2	2	95181290	Missense_Mutation	SNP	A	C3N-00580_TP	15529656	95181290	147012239	143	19603											
STARD7	0	.	GRCh38	chr2	96193304	96193304	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacatccctctcaatcacctCcagcttgattaccagggcat	10	10	5	16	0	2	1	2	1	1	0	5	1	4	1	4	1	2	2	4	1	2	2	rs372858958		C3N-00580_TP	C3N-00580_NB	C	C																c.598G>T	p.Glu200Ter	p.E200*	ENST00000337288	4/8	465	338	127	476	476	0	strelka-varscan	STARD7,stop_gained,p.Glu200Ter,ENST00000337288,NM_020151.3;STARD7,stop_gained,p.Glu99Ter,ENST00000443962,;STARD7,splice_region_variant,,ENST00000462501,;STARD7,non_coding_transcript_exon_variant,,ENST00000495687,;STARD7,downstream_gene_variant,,ENST00000488084,;	A	ENST00000337288	Transcript	stop_gained	982/3368	598/1113	200/370	E/*	Gag/Tag	rs372858958	1		-1	STARD7	HGNC	HGNC:18063	protein_coding	YES	CCDS2017.2	ENSP00000338030	Q9NQZ5		UPI0000001C0C	NM_020151.3			4/8		PROSITE_profiles:PS50848,hmmpanther:PTHR19308,Gene3D:3.30.530.20,Pfam_domain:PF01852,SMART_domains:SM00234,Superfamily_domains:SSF55961																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	62	96193304	96193304	C	A	1	0	0	0	0	0	1	0	0	15637	864	30	2		2	STARD7	2	96193304	Nonsense_Mutation	SNP	C	C3N-00580_TP	1012014	96193304	146000225	144	19604											
SNRNP200	0	.	GRCh38	chr2	96284459	96284459	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggaaagtatgtcccactTctcaggggtgctgatgataa	10	10	12	9	1	1	2	1	2	1	0	3	3	2	3	2	3	1	2	2	3	3	3	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.4291A>T	p.Lys1431Ter	p.K1431*	ENST00000323853	31/45	747	511	236	601	600	1	strelka-varscan	SNRNP200,stop_gained,p.Lys1431Ter,ENST00000323853,NM_014014.4;SNRNP200,5_prime_UTR_variant,,ENST00000429650,;SNRNP200,non_coding_transcript_exon_variant,,ENST00000480242,;SNRNP200,non_coding_transcript_exon_variant,,ENST00000497539,;SNRNP200,downstream_gene_variant,,ENST00000480615,;SNRNP200,upstream_gene_variant,,ENST00000493271,;SNRNP200,upstream_gene_variant,,ENST00000484372,;	A	ENST00000323853	Transcript	stop_gained	4369/7165	4291/6411	1431/2136	K/*	Aag/Tag		1		-1	SNRNP200	HGNC	HGNC:30859	protein_coding	YES	CCDS2020.1	ENSP00000317123	O75643		UPI0000207C53	NM_014014.4			31/45		PROSITE_profiles:PS51192,PIRSF_domain:PIRSF039073,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	62	96284459	96284459	T	A	1	0	0	0	0	0	1	0	0	15172	1792	62	4		4	SNRNP200	2	96284459	Nonsense_Mutation	SNP	T	C3N-00580_TP	91155	96284459	145909070	145	19605											
ANKRD36B	0	.	GRCh38	chr2	97558995	97558995	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgtttctgagaagacaCtgaaaagcaaaagggaaaca	17	8	11	5	0	1	3	0	2	1	2	1	5	1	4	0	2	2	3	0	2	6	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.866-1G>T		p.X289_splice	ENST00000258459		87	63	24	114	114	0	strelka-varscan	ANKRD36B,splice_acceptor_variant,,ENST00000438709,;ANKRD36B,splice_acceptor_variant,,ENST00000258459,NM_025190.3;ANKRD36B,splice_acceptor_variant,,ENST00000359901,;ANKRD36B,splice_acceptor_variant,,ENST00000443455,;ANKRD36B,splice_acceptor_variant,,ENST00000419390,;	A	ENST00000258459	Transcript	splice_acceptor_variant	-/5986	866/4062	289/1353				1		-1	ANKRD36B	HGNC	HGNC:29333	protein_coding	YES	CCDS74543.1	ENSP00000481149	Q8N2N9		UPI000155D57B	NM_025190.3				8/43																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	62	97558995	97558995	C	A	1	0	0	0	0	0	0	1	0	772	579	20	2		2	ANKRD36B	2	97558995	Splice_Site	SNP	C	C3N-00580_TP	1274536	97558995	144634534	146	19606											
VWA3B	0	.	GRCh38	chr2	98236670	98236670	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcagtggcagcagtcccGcacagctccacctatgttcc	7	10	9	15	1	1	0	1	0	0	0	4	0	4	0	4	1	2	5	4	1	1	3	rs377277436		C3N-00580_TP	C3N-00580_NB	G	G																c.2613G>T	p.=	p.P871P	ENST00000477737	19/28	235	174	61	250	250	0	strelka-varscan	VWA3B,synonymous_variant,p.=,ENST00000477737,NM_144992.4;VWA3B,synonymous_variant,p.=,ENST00000473149,;VWA3B,synonymous_variant,p.=,ENST00000465555,;VWA3B,non_coding_transcript_exon_variant,,ENST00000485216,;VWA3B,3_prime_UTR_variant,,ENST00000432242,;VWA3B,3_prime_UTR_variant,,ENST00000416277,;VWA3B,3_prime_UTR_variant,,ENST00000495571,;VWA3B,3_prime_UTR_variant,,ENST00000489630,;VWA3B,3_prime_UTR_variant,,ENST00000448638,;VWA3B,non_coding_transcript_exon_variant,,ENST00000409460,;	T	ENST00000477737	Transcript	synonymous_variant	2817/4454	2613/3885	871/1294	P	ccG/ccT	rs377277436	1		1	VWA3B	HGNC	HGNC:28385	protein_coding	YES	CCDS42718.1	ENSP00000417955	Q502W6		UPI0000E9B173	NM_144992.4			19/28																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	98236670	98236670	G	T	1	0	0	0	0	0	0	0	1	17795	1074	38	1		1	VWA3B	2	98236670	Silent	SNP	G	C3N-00580_TP	677675	98236670	143956859	147	19607											
LONRF2	0	.	GRCh38	chr2	100294322	100294322	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagcggggctcaaaaacgTggagtggacatgggaccgtg	11	6	17	7	3	1	0	1	0	0	0	1	4	1	3	1	5	2	1	1	5	3	1	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1664A>T	p.His555Leu	p.H555L	ENST00000393437	9/12	72	56	16	105	105	0	strelka-varscan	LONRF2,missense_variant,p.His555Leu,ENST00000393437,NM_198461.3;LONRF2,missense_variant,p.His312Leu,ENST00000409647,;	A	ENST00000393437	Transcript	missense_variant	2304/13912	1664/2265	555/754	H/L	cAc/cTc		1		-1	LONRF2	HGNC	HGNC:24788	protein_coding	YES	CCDS2046.2	ENSP00000377086	Q1L5Z9		UPI000152B4EF	NM_198461.3	deleterious(0)		9/12		hmmpanther:PTHR23327:SF5,hmmpanther:PTHR23327,Pfam_domain:PF02190,SMART_domains:SM00464,Superfamily_domains:SSF88697																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	100294322	100294322	T	A	1	0	0	0	0	1	0	0	0	8797	1696	59	4		4	LONRF2	2	100294322	Missense_Mutation	SNP	T	C3N-00580_TP	2057652	100294322	141899207	148	19608											
RPL31	0	.	GRCh38	chr2	101019005	101019005	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttctgtgctagtttctgtGctaaacagtgttacagtcgc	8	16	9	8	1	2	0	0	0	2	0	3	0	2	0	0	0	4	4	0	0	4	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.354G>A	p.=	p.V118V	ENST00000409028	5/5	283	240	43	252	252	0	strelka-varscan	RPL31,synonymous_variant,p.=,ENST00000409028,NM_001098577.2;TBC1D8,intron_variant,,ENST00000409318,;TBC1D8,intron_variant,,ENST00000376840,NM_001102426.1;RPL31,intron_variant,,ENST00000441435,;RPL31,downstream_gene_variant,,ENST00000409038,;RPL31,downstream_gene_variant,,ENST00000409650,;TBC1D8,intron_variant,,ENST00000494011,;	A	ENST00000409028	Transcript	synonymous_variant	387/1110	354/387	118/128	V	gtG/gtA		1		1	RPL31	HGNC	HGNC:10334	protein_coding	YES	CCDS46373.1	ENSP00000386717	P62899		UPI0000EE6D67	NM_001098577.2			5/5																			LOW		SNV	2			1										PASS		.	.												A	2	1	62	101019005	101019005	G	A	1	0	0	0	0	0	0	0	1	13833	1306	46	3		3	RPL31	2	101019005	Silent	SNP	G	C3N-00580_TP	724683	101019005	141174524	149	19609											
IL18RAP	0	.	GRCh38	chr2	102445224	102445224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggatgaaatcattgagcGtaatatcatcttggaaaaag	18	10	9	4	1	3	2	2	2	1	0	3	4	3	4	0	2	1	1	0	2	6	4	rs768468042		C3N-00580_TP	C3N-00580_NB	G	G																c.956G>T	p.Arg319Leu	p.R319L	ENST00000264260	9/12	260	179	81	156	156	0	strelka-varscan	IL18RAP,missense_variant,p.Arg319Leu,ENST00000264260,NM_003853.3;IL18RAP,missense_variant,p.Arg177Leu,ENST00000409369,;AC007278.3,downstream_gene_variant,,ENST00000450893,;	T	ENST00000264260	Transcript	missense_variant	1545/2773	956/1800	319/599	R/L	cGt/cTt	rs768468042,COSM1613241	1		1	IL18RAP	HGNC	HGNC:5989	protein_coding	YES	CCDS2061.1	ENSP00000264260	O95256		UPI0000071CAF	NM_003853.3	tolerated(0.62)		9/12		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF23,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	62	102445224	102445224	G	T	1	0	0	0	0	1	0	0	0	7556	1145	40	1		1	IL18RAP	2	102445224	Missense_Mutation	SNP	G	C3N-00580_TP	1426219	102445224	139748305	150	19610											
NCK2	0	.	GRCh38	chr2	105881932	105881932	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaccgggccctcgtccagCgggcgcttcgcgggcagaga	6	5	15	15	6	0	1	0	0	0	1	3	2	1	1	3	3	2	2	3	3	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.831C>A	p.Ser277Arg	p.S277R	ENST00000233154	4/5	38	25	13	35	35	0	strelka-varscan	NCK2,missense_variant,p.Ser277Arg,ENST00000233154,NM_003581.4;NCK2,missense_variant,p.Ser277Arg,ENST00000393349,NM_001004720.2;NCK2,intron_variant,,ENST00000451463,NM_001004722.3;NCK2,intron_variant,,ENST00000522586,;NCK2,downstream_gene_variant,,ENST00000393348,;NCK2,downstream_gene_variant,,ENST00000425756,;	A	ENST00000233154	Transcript	missense_variant	1273/2683	831/1143	277/380	S/R	agC/agA		1		1	NCK2	HGNC	HGNC:7665	protein_coding	YES	CCDS33266.1	ENSP00000233154	O43639	A0A0S2Z4M6	UPI000012FE3F	NM_003581.4	tolerated(0.54)		4/5		PIRSF_domain:PIRSF037874,Superfamily_domains:SSF50044,Superfamily_domains:SSF55550																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	105881932	105881932	C	A	1	0	0	0	0	1	0	0	0	10238	767	27	1		1	NCK2	2	105881932	Missense_Mutation	SNP	C	C3N-00580_TP	3436708	105881932	136311597	151	19611											
CCDC93	0	.	GRCh38	chr2	117920370	117920370	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcgctttcaccttggaCagcagcatctcgttcttgcg	5	13	9	14	3	3	0	1	0	2	0	5	1	3	1	2	1	3	4	2	1	0	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1869G>T	p.=	p.L623L	ENST00000376300	24/24	107	73	34	119	119	0	strelka-varscan	CCDC93,synonymous_variant,p.=,ENST00000376300,NM_019044.4;CCDC93,synonymous_variant,p.=,ENST00000319432,;HTR5BP,intron_variant,,ENST00000434708,;CCDC93,3_prime_UTR_variant,,ENST00000437999,;	A	ENST00000376300	Transcript	synonymous_variant	2007/6899	1869/1896	623/631	L	ctG/ctT		1		-1	CCDC93	HGNC	HGNC:25611	protein_coding	YES	CCDS2121.2	ENSP00000365477	Q567U6		UPI0000207DEC	NM_019044.4			24/24		hmmpanther:PTHR16441																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	117920370	117920370	C	A	1	0	0	0	0	0	0	0	1	2570	465	17	2		2	CCDC93	2	117920370	Silent	SNP	C	C3N-00580_TP	12038438	117920370	124273159	152	19612											
TSN	0	.	GRCh38	chr2	121765238	121765238	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttttcgccttctcaacctGaaaaatgactccctgaggaa	11	11	8	11	1	1	3	1	3	1	0	4	4	2	4	3	2	1	1	3	2	4	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.558G>A	p.=	p.L186L	ENST00000389682	6/6	522	335	187	524	524	0	strelka-varscan	TSN,synonymous_variant,p.=,ENST00000389682,NM_004622.2;TSN,synonymous_variant,p.=,ENST00000409193,;TSN,3_prime_UTR_variant,,ENST00000536142,NM_001261401.1;TSN,downstream_gene_variant,,ENST00000455432,;TSN,non_coding_transcript_exon_variant,,ENST00000498545,;TSN,non_coding_transcript_exon_variant,,ENST00000495112,;TSN,3_prime_UTR_variant,,ENST00000467324,;TSN,3_prime_UTR_variant,,ENST00000490104,;TSN,downstream_gene_variant,,ENST00000478165,;TSN,downstream_gene_variant,,ENST00000490717,;	A	ENST00000389682	Transcript	synonymous_variant	805/3420	558/687	186/228	L	ctG/ctA		1		1	TSN	HGNC	HGNC:12379	protein_coding	YES	CCDS33284.1	ENSP00000374332	Q15631		UPI0000000C3D	NM_004622.2			6/6		hmmpanther:PTHR10741,hmmpanther:PTHR10741:SF2,Gene3D:1j1jA02,Pfam_domain:PF01997,Superfamily_domains:0047790																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	121765238	121765238	G	A	1	0	0	0	0	0	0	0	1	17134	1277	45	3		3	TSN	2	121765238	Silent	SNP	G	C3N-00580_TP	3844868	121765238	120428291	153	19613											
MYO7B	0	.	GRCh38	chr2	127559737	127559737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcaggatgtcggggttcagGctggtaagaattgtatgatt	9	13	14	5	1	2	2	2	1	0	1	3	3	2	3	0	5	0	4	0	5	3	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.15G>T	p.Arg5Ser	p.R5S	ENST00000428314	2/47	284	216	68	256	255	1	strelka-varscan	MYO7B,missense_variant,p.Arg5Ser,ENST00000428314,NM_001080527.1;MYO7B,missense_variant,p.Arg5Ser,ENST00000409816,;	T	ENST00000428314	Transcript	missense_variant	68/6715	15/6351	5/2116	R/S	agG/agT		1		1	MYO7B	HGNC	HGNC:7607	protein_coding	YES	CCDS46405.1	ENSP00000415090	Q6PIF6		UPI00006C04F0	NM_001080527.1	tolerated(0.15)		2/47																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	127559737	127559737	G	T	1	0	0	0	0	1	0	0	0	10084	1217	42	2		2	MYO7B	2	127559737	Missense_Mutation	SNP	G	C3N-00580_TP	5794499	127559737	114633792	154	19614											
MYO7B	0	.	GRCh38	chr2	127581935	127581935	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtctgatcaagcacaccatCctcatccgaggggaatttgt	10	11	9	11	1	3	1	2	1	1	0	5	3	5	2	3	2	1	1	3	2	2	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1125C>A	p.=	p.I375I	ENST00000428314	11/47	371	238	133	344	344	0	strelka-varscan	MYO7B,synonymous_variant,p.=,ENST00000428314,NM_001080527.1;MYO7B,synonymous_variant,p.=,ENST00000409816,;	A	ENST00000428314	Transcript	synonymous_variant	1178/6715	1125/6351	375/2116	I	atC/atA		1		1	MYO7B	HGNC	HGNC:7607	protein_coding	YES	CCDS46405.1	ENSP00000415090	Q6PIF6		UPI00006C04F0	NM_001080527.1			11/47		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF505,SMART_domains:SM00242,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	62	127581935	127581935	C	A	1	0	0	0	0	0	0	0	1	10084	845	30	2		2	MYO7B	2	127581935	Silent	SNP	C	C3N-00580_TP	22198	127581935	114611594	155	19615											
POTEF	0	.	GRCh38	chr2	130102156	130102156	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacctttgtgactcttccTctgatgtcagctttaagtct	7	17	7	10	0	4	3	1	3	3	0	5	3	5	3	2	0	2	1	2	0	2	4	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1151A>T	p.Glu384Val	p.E384V	ENST00000409914	9/17	217	157	60	191	191	0	strelka-varscan	POTEF,missense_variant,p.Glu384Val,ENST00000409914,NM_001099771.2;POTEF,downstream_gene_variant,,ENST00000361163,;	A	ENST00000409914	Transcript	missense_variant	1551/3842	1151/3228	384/1075	E/V	gAg/gTg		1		-1	POTEF	HGNC	HGNC:33905	protein_coding	YES	CCDS46409.1	ENSP00000386786	A5A3E0		UPI0000418FEA	NM_001099771.2	deleterious_low_confidence(0)		9/17		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	130102156	130102156	T	A	1	0	0	0	0	1	0	0	0	12379	1551	54	4		4	POTEF	2	130102156	Missense_Mutation	SNP	T	C3N-00580_TP	2520221	130102156	112091373	156	19616											
TISP43	0	.	GRCh38	chr2	130576763	130576763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttttccagccccagtaccCcggccagccaagcagcagtg	8	7	9	17	1	0	0	0	0	0	0	1	0	1	0	7	1	5	3	7	1	2	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.290C>A	p.Pro97His	p.P97H	ENST00000409982	3/3	56	44	12	59	59	0	strelka-varscan-mutect	TISP43,missense_variant,p.Pro97His,ENST00000623376,;TISP43,missense_variant,p.Pro97His,ENST00000409982,;TISP43,missense_variant,p.Pro97His,ENST00000440359,;TISP43,intron_variant,,ENST00000409793,;TISP43,non_coding_transcript_exon_variant,,ENST00000419965,;TISP43,intron_variant,,ENST00000414595,;	A	ENST00000409982	Transcript	missense_variant	461/1039	290/483	97/160	P/H	cCc/cAc		1		1	TISP43	EntrezGene		protein_coding	YES		ENSP00000387081		B9A030	UPI000188179A		tolerated(0.07)		3/3		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF221,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	130576763	130576763	C	A	1	0	0	0	0	1	0	0	0	16369	623	22	2		2	TISP43	2	130576763	Missense_Mutation	SNP	C	C3N-00580_TP	474607	130576763	111616766	157	19617											
TISP43	0	.	GRCh38	chr2	130580613	130580613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgagactccaggggtccCctcgtctgcccattaaatgg	8	8	11	14	2	1	1	0	0	1	1	4	2	3	1	4	3	2	0	4	3	2	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.434C>A	p.Pro145His	p.P145H	ENST00000623376	5/5	150	124	26	148	148	0	strelka-varscan-mutect	TISP43,missense_variant,p.Pro145His,ENST00000623376,;TISP43,intron_variant,,ENST00000440359,;TISP43,intron_variant,,ENST00000409793,;TISP43,downstream_gene_variant,,ENST00000409982,;AC140481.4,downstream_gene_variant,,ENST00000457169,;TISP43,intron_variant,,ENST00000419965,;TISP43,intron_variant,,ENST00000414595,;	A	ENST00000623376	Transcript	missense_variant	630/1653	434/450	145/149	P/H	cCc/cAc		1		1	TISP43	EntrezGene		protein_coding			ENSP00000485065		A0A096LNJ3	UPI00006C04F9				5/5		PROSITE_profiles:PS50240,SMART_domains:SM00020																	MODERATE		SNV	1			1										PASS		.	.												A	3	1	62	130580613	130580613	C	A	1	0	0	0	0	1	0	0	0	16369	623	22	2		2	TISP43	2	130580613	Missense_Mutation	SNP	C	C3N-00580_TP	3850	130580613	111612916	158	19618											
POTEJ	0	.	GRCh38	chr2	130657221	130657221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgatggactctggtgacGgggtcacccacactgtgccc	6	9	13	13	2	2	2	1	2	1	0	3	3	2	3	2	4	1	0	2	4	0	0	rs771270515		C3N-00580_TP	C3N-00580_NB	G	G																c.2461G>T	p.Gly821Trp	p.G821W	ENST00000409602	15/15	160	109	51	146	146	0	strelka-varscan-mutect	POTEJ,missense_variant,p.Gly821Trp,ENST00000409602,NM_001277083.1;	T	ENST00000409602	Transcript	missense_variant	2513/3383	2461/3117	821/1038	G/W	Ggg/Tgg	rs771270515	1		1	POTEJ	HGNC	HGNC:37094	protein_coding	YES	CCDS59432.1	ENSP00000387176	P0CG39		UPI0000DD7A4B	NM_001277083.1	deleterious_low_confidence(0)		15/15		Gene3D:3.30.420.40,Pfam_domain:PF00022,Prints_domain:PR00190,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV	5			1										PASS		rs771270515	.												T	3	4	62	130657221	130657221	G	T	1	0	0	0	0	1	0	0	0	12383	1116	39	1		1	POTEJ	2	130657221	Missense_Mutation	SNP	G	C3N-00580_TP	76608	130657221	111536308	159	19619											
ARHGEF4	0	.	GRCh38	chr2	131041836	131041836	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcaaggatgttgaagcCgccttgcatgccatgaagaa	12	9	11	9	1	1	3	1	2	0	1	1	5	1	4	3	1	3	2	3	1	4	3	rs774222755		C3N-00580_TP	C3N-00580_NB	C	C																c.1359C>A	p.=	p.A453A	ENST00000326016	10/14	221	149	72	182	182	0	strelka-varscan-mutect	ARHGEF4,synonymous_variant,p.=,ENST00000409359,;ARHGEF4,synonymous_variant,p.=,ENST00000525839,NM_032995.2;ARHGEF4,synonymous_variant,p.=,ENST00000392953,;ARHGEF4,synonymous_variant,p.=,ENST00000326016,NM_015320.3;ARHGEF4,synonymous_variant,p.=,ENST00000611048,;ARHGEF4,synonymous_variant,p.=,ENST00000409303,;ARHGEF4,synonymous_variant,p.=,ENST00000355771,;ARHGEF4,synonymous_variant,p.=,ENST00000532720,;ARHGEF4,intron_variant,,ENST00000428230,;ARHGEF4,intron_variant,,ENST00000438985,;ARHGEF4,downstream_gene_variant,,ENST00000439368,;ARHGEF4,downstream_gene_variant,,ENST00000496764,;ARHGEF4,downstream_gene_variant,,ENST00000528247,;ARHGEF4,3_prime_UTR_variant,,ENST00000636987,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000490728,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000525092,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000527365,;	A	ENST00000326016	Transcript	synonymous_variant	1878/3666	1359/2073	453/690	A	gcC/gcA	rs774222755	1		1	ARHGEF4	HGNC	HGNC:684	protein_coding	YES	CCDS2165.1	ENSP00000316845	Q9NR80		UPI00001417F6	NM_015320.3			10/14		PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF103,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065																	LOW	1	SNV	2			1										PASS		rs774222755	.												A	2	1	62	131041836	131041836	C	A	1	0	0	0	0	0	0	0	1	1043	639	23	1		1	ARHGEF4	2	131041836	Silent	SNP	C	C3N-00580_TP	384615	131041836	111151693	160	19620											
POTEE	0	.	GRCh38	chr2	131218895	131218895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcatgctcagggacactGacgtgaacaagaaggacaag	14	6	12	9	2	2	3	2	2	0	1	3	5	2	5	0	2	2	1	0	2	4	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.493G>T	p.Asp165Tyr	p.D165Y	ENST00000356920	1/15	394	281	113	393	393	0	strelka-varscan-mutect	POTEE,missense_variant,p.Asp165Tyr,ENST00000356920,NM_001083538.1;POTEE,missense_variant,p.Asp165Tyr,ENST00000626191,;POTEE,missense_variant,p.Asp165Tyr,ENST00000613282,;PLEKHB2,intron_variant,,ENST00000404460,;POTEE,missense_variant,p.Asp165Tyr,ENST00000358087,;POTEE,missense_variant,p.Asp165Tyr,ENST00000514256,;	T	ENST00000356920	Transcript	missense_variant	829/4159	493/3228	165/1075	D/Y	Gac/Tac		1		1	POTEE	HGNC	HGNC:33895	protein_coding	YES	CCDS46414.1	ENSP00000439189	Q6S8J3		UPI0000F58EC8	NM_001083538.1	deleterious_low_confidence(0)		1/15		PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	131218895	131218895	G	T	1	0	0	0	0	1	0	0	0	12378	1290	45	2		2	POTEE	2	131218895	Missense_Mutation	SNP	G	C3N-00580_TP	177059	131218895	110974634	161	19621											
POTEE	0	.	GRCh38	chr2	131228279	131228279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtatgttgtggatcagCaagtatagtcagccttctac	9	14	10	8	0	3	0	2	0	1	0	3	1	3	1	1	1	4	5	1	1	5	6	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.953C>A	p.Ala318Glu	p.A318E	ENST00000356920	5/15	414	315	99	402	401	1	strelka-varscan-mutect	POTEE,missense_variant,p.Ala318Glu,ENST00000356920,NM_001083538.1;POTEE,missense_variant,p.Ala318Glu,ENST00000626191,;POTEE,missense_variant,p.Ala318Glu,ENST00000613282,;PLEKHB2,intron_variant,,ENST00000404460,;RNU6-127P,upstream_gene_variant,,ENST00000390897,;POTEE,missense_variant,p.Ala328Glu,ENST00000358087,;POTEE,missense_variant,p.Ala318Glu,ENST00000514256,;	A	ENST00000356920	Transcript	missense_variant	1289/4159	953/3228	318/1075	A/E	gCa/gAa		1		1	POTEE	HGNC	HGNC:33895	protein_coding	YES	CCDS46414.1	ENSP00000439189	Q6S8J3		UPI0000F58EC8	NM_001083538.1	tolerated_low_confidence(0.06)		5/15		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	131228279	131228279	C	A	1	0	0	0	0	1	0	0	0	12378	710	25	2		2	POTEE	2	131228279	Missense_Mutation	SNP	C	C3N-00580_TP	9384	131228279	110965250	162	19622											
DARS	0	.	GRCh38	chr2	135920489	135920489	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatatttgtaccatggtgTcagcaatttcttccataact	11	16	6	8	0	2	1	1	1	1	0	3	1	3	1	2	1	3	2	2	1	5	6	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.923A>T	p.Asp308Val	p.D308V	ENST00000264161	10/16	180	133	47	164	164	0	strelka-mutect	DARS,missense_variant,p.Asp308Val,ENST00000264161,NM_001293312.1,NM_001349.3;DARS,missense_variant,p.Asp22Val,ENST00000422708,;DARS,downstream_gene_variant,,ENST00000456565,;DARS,downstream_gene_variant,,ENST00000441323,;	A	ENST00000264161	Transcript	missense_variant	1139/2361	923/1506	308/501	D/V	gAc/gTc		1		-1	DARS	HGNC	HGNC:2678	protein_coding	YES	CCDS2180.1	ENSP00000264161	P14868	A0A140VJW5	UPI000013639B	NM_001293312.1,NM_001349.3	deleterious(0.04)		10/16		Gene3D:3.30.930.10,Pfam_domain:PF00152,PROSITE_profiles:PS50862,hmmpanther:PTHR22594,hmmpanther:PTHR22594:SF33,Superfamily_domains:SSF55681,TIGRFAM_domain:TIGR00458																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	135920489	135920489	T	A	1	0	0	0	0	1	0	0	0	4041	1667	58	4		4	DARS	2	135920489	Missense_Mutation	SNP	T	C3N-00580_TP	4692210	135920489	106273040	163	19623											
THSD7B	0	.	GRCh38	chr2	137667810	137667810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgggtttatggcgtttcagGtggcgcttttctcatcatga	5	17	12	7	2	3	1	3	1	1	0	4	1	3	1	0	4	0	3	0	4	1	6	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.4694G>T	p.Gly1565Val	p.G1565V	ENST00000272643	26/27	238	154	84	258	257	1	strelka-varscan-mutect	THSD7B,missense_variant,p.Gly1563Val,ENST00000409968,NM_001316349.1;THSD7B,missense_variant,p.Gly1565Val,ENST00000272643,;THSD7B,missense_variant,p.Gly1534Val,ENST00000413152,NM_001080427.1;	T	ENST00000272643	Transcript	missense_variant	4694/5939	4694/4827	1565/1608	G/V	gGt/gTt		1		1	THSD7B	HGNC	HGNC:29348	protein_coding	YES		ENSP00000272643	Q9C0I4		UPI0004E4C87A		deleterious(0.04)		26/27		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		rs1171966414	.												T	3	4	62	137667810	137667810	G	T	1	0	0	0	0	1	0	0	0	16314	1261	44	2		2	THSD7B	2	137667810	Missense_Mutation	SNP	G	C3N-00580_TP	1747321	137667810	104525719	164	19624											
LRP1B	0	.	GRCh38	chr2	140487639	140487639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatgtcacttccatttaaaCacattctatttatgcgactg	12	16	4	9	1	2	0	1	0	1	0	3	1	3	0	1	0	2	0	1	0	5	8	rs778965587		C3N-00580_TP	C3N-00580_NB	C	C																c.9221G>A	p.Cys3074Tyr	p.C3074Y	ENST00000389484	58/91	123	88	35	143	143	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Cys3074Tyr,ENST00000389484,NM_018557.2;	T	ENST00000389484	Transcript	missense_variant	10193/16535	9221/13800	3074/4599	C/Y	tGt/tAt	rs778965587	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(1)		58/91		PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Pfam_domain:PF16472,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		rs778965587	.												T	3	4	62	140487639	140487639	C	T	1	0	0	0	0	1	0	0	0	8850	478	17	3		3	LRP1B	2	140487639	Missense_Mutation	SNP	C	C3N-00580_TP	2819829	140487639	101705890	165	19625											
TNFAIP6	0	.	GRCh38	chr2	151370074	151370074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaaatttttaaatctccagGcttcccaaatgagtacgaag	14	11	7	9	1	1	1	0	1	1	0	3	2	2	1	2	1	1	3	2	1	6	5	rs140516340		C3N-00580_TP	C3N-00580_NB	G	G																c.449G>T	p.Gly150Val	p.G150V	ENST00000243347	4/6	354	257	97	205	205	0	strelka-varscan-mutect	TNFAIP6,missense_variant,p.Gly150Val,ENST00000243347,NM_007115.3;MIR4773-1,downstream_gene_variant,,ENST00000585225,;hsa-mir-4773-1,upstream_gene_variant,,ENST00000637203,;RN7SL124P,upstream_gene_variant,,ENST00000498656,;TNFAIP6,non_coding_transcript_exon_variant,,ENST00000460812,;	T	ENST00000243347	Transcript	missense_variant	524/1424	449/834	150/277	G/V	gGc/gTc	rs140516340	1		1	TNFAIP6	HGNC	HGNC:11898	protein_coding	YES	CCDS2193.1	ENSP00000243347	P98066		UPI0000071080	NM_007115.3	deleterious(0)		4/6		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR24038,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		rs140516340	.												T	3	4	62	151370074	151370074	G	T	1	0	0	0	0	1	0	0	0	16749	1203	42	2		2	TNFAIP6	2	151370074	Missense_Mutation	SNP	G	C3N-00580_TP	10882435	151370074	90823455	166	19626											
NEB	0	.	GRCh38	chr2	151619679	151619679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actttggcaatgtggagggaCcacattatcttggggtcatc	9	12	12	8	0	2	0	1	0	1	0	3	2	2	2	1	5	0	1	1	5	2	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.10644G>T	p.Trp3548Cys	p.W3548C	ENST00000618972	73/183	315	233	82	191	191	0	strelka-varscan-mutect	NEB,missense_variant,p.Trp3548Cys,ENST00000618972,NM_001271208.1;NEB,missense_variant,p.Trp3548Cys,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Trp3548Cys,ENST00000427231,NM_001164507.1;NEB,missense_variant,p.Trp3548Cys,ENST00000603639,;NEB,missense_variant,p.Trp3548Cys,ENST00000604864,;NEB,missense_variant,p.Trp3305Cys,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Trp3305Cys,ENST00000172853,;NEB,upstream_gene_variant,,ENST00000486320,;	A	ENST00000618972	Transcript	missense_variant	10847/26307	10644/25683	3548/8560	W/C	tgG/tgT		1		-1	NEB	HGNC	HGNC:7720	protein_coding	YES	CCDS74588.1	ENSP00000484342		A0A087X1N7	UPI0004E4CCB0	NM_001271208.1	deleterious(0.01)		73/183		PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,Pfam_domain:PF00880,SMART_domains:SM00227																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	151619679	151619679	C	A	1	0	0	0	0	1	0	0	0	10326	508	18	2		2	NEB	2	151619679	Missense_Mutation	SNP	C	C3N-00580_TP	249605	151619679	90573850	167	19627											
GALNT5	0	.	GRCh38	chr2	157259164	157259164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagtaaacacatttccaGgaatagaagtgagatgtctt	16	10	8	7	0	1	2	0	1	1	2	2	4	2	3	2	1	1	1	2	1	6	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1082G>T	p.Arg361Met	p.R361M	ENST00000259056	1/10	25	17	8	17	17	0	strelka-varscan-mutect	GALNT5,missense_variant,p.Arg361Met,ENST00000259056,NM_014568.1;	T	ENST00000259056	Transcript	missense_variant	1567/6171	1082/2823	361/940	R/M	aGg/aTg		1		1	GALNT5	HGNC	HGNC:4127	protein_coding	YES	CCDS2203.1	ENSP00000259056	Q7Z7M9		UPI000019AD19	NM_014568.1	deleterious(0.03)		1/10		Low_complexity_(Seg):seg,hmmpanther:PTHR11675:SF16,hmmpanther:PTHR11675																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	157259164	157259164	G	T	1	0	0	0	0	1	0	0	0	6087	1000	35	2		2	GALNT5	2	157259164	Missense_Mutation	SNP	G	C3N-00580_TP	5639485	157259164	84934365	168	19628											
KCNH7	0	.	GRCh38	chr2	162536932	162536932	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttttacttacggtttacAgttttgattggtaatattgg	8	19	9	5	1	0	1	0	1	0	0	0	1	0	1	1	3	3	3	1	3	5	11	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.456T>A	p.=	p.T152T	ENST00000332142	3/16	164	132	32	87	87	0	strelka-varscan-mutect	KCNH7,synonymous_variant,p.=,ENST00000332142,NM_033272.3;KCNH7,synonymous_variant,p.=,ENST00000618399,;KCNH7,synonymous_variant,p.=,ENST00000328032,NM_173162.2;KCNH7,synonymous_variant,p.=,ENST00000621889,;	T	ENST00000332142	Transcript	synonymous_variant	556/4113	456/3591	152/1196	T	acT/acA		1		-1	KCNH7	HGNC	HGNC:18863	protein_coding	YES	CCDS2219.1	ENSP00000331727	Q9NS40		UPI0000167D11	NM_033272.3			3/16		hmmpanther:PTHR10217:SF466,hmmpanther:PTHR10217																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	162536932	162536932	A	T	1	0	0	0	0	0	0	0	1	7953	175	7	4		4	KCNH7	2	162536932	Silent	SNP	A	C3N-00580_TP	5277768	162536932	79656597	169	19629											
SCN7A	0	.	GRCh38	chr2	166472392	166472392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatcctgcccagacacctCttgcaaagagttttacaagt	12	11	7	11	0	1	3	0	1	1	2	2	3	2	3	3	0	3	2	3	0	3	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.497G>A	p.Arg166Lys	p.R166K	ENST00000409855	5/25	203	136	67	191	191	0	strelka-varscan-mutect	SCN7A,missense_variant,p.Arg166Lys,ENST00000619410,;SCN7A,missense_variant,p.Arg166Lys,ENST00000621965,;SCN7A,missense_variant,p.Arg166Lys,ENST00000409855,NM_002976.3;SCN7A,missense_variant,p.Arg166Lys,ENST00000419992,;SCN7A,missense_variant,p.Arg166Lys,ENST00000441411,;SCN7A,missense_variant,p.Arg166Lys,ENST00000424326,;	T	ENST00000409855	Transcript	missense_variant	624/7183	497/5049	166/1682	R/K	aGa/aAa		1		-1	SCN7A	HGNC	HGNC:10594	protein_coding	YES	CCDS46442.1	ENSP00000386796	Q01118		UPI0000209019	NM_002976.3	deleterious(0.03)		5/25		Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	166472392	166472392	C	T	1	0	0	0	0	1	0	0	0	14192	913	32	3		3	SCN7A	2	166472392	Missense_Mutation	SNP	C	C3N-00580_TP	3935460	166472392	75721137	170	19630											
XIRP2	0	.	GRCh38	chr2	167246841	167246841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagatgtgcataacacaGttaaggtttttatgaccgag	12	12	11	6	1	0	2	0	1	0	1	0	4	0	2	1	2	2	3	1	2	3	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.5449G>T	p.Val1817Phe	p.V1817F	ENST00000409195	9/11	268	246	22	226	226	0	strelka-varscan-mutect	XIRP2,missense_variant,p.Val1817Phe,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Val1595Phe,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Val1642Phe,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	T	ENST00000409195	Transcript	missense_variant	5538/12675	5449/10650	1817/3549	V/F	Gtt/Ttt		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious(0)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	167246841	167246841	G	T	1	0	0	0	0	1	0	0	0	17989	1029	36	2		2	XIRP2	2	167246841	Missense_Mutation	SNP	G	C3N-00580_TP	774449	167246841	74946688	171	19631											
XIRP2	0	.	GRCh38	chr2	167247543	167247543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagactatctaattcacacCataaatctaatgttttggaa	16	13	5	7	0	3	1	1	0	2	1	3	3	3	2	1	1	0	1	1	1	7	7			C3N-00580_TP	C3N-00580_NB	C	C																c.6151C>A	p.His2051Asn	p.H2051N	ENST00000409195	9/11	222	153	69	191	191	0	strelka-varscan-mutect	XIRP2,missense_variant,p.His2051Asn,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.His1829Asn,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.His1876Asn,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	A	ENST00000409195	Transcript	missense_variant	6240/12675	6151/10650	2051/3549	H/N	Cat/Aat	COSM242277	1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious_low_confidence(0.04)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	62	167247543	167247543	C	A	1	0	0	0	0	1	0	0	0	17989	594	21	2		2	XIRP2	2	167247543	Missense_Mutation	SNP	C	C3N-00580_TP	702	167247543	74945986	172	19632											
NOSTRIN	0	.	GRCh38	chr2	168834310	168834310	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaagcaatctatgactgaGaaggagaagcggaaggtaag	16	6	13	6	1	1	3	0	2	1	2	2	6	2	4	1	3	2	2	1	3	7	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.489G>C	p.Glu163Asp	p.E163D	ENST00000444448	9/19	195	180	15	140	140	0	strelka-varscan-mutect	NOSTRIN,missense_variant,p.Glu163Asp,ENST00000444448,;NOSTRIN,missense_variant,p.Glu163Asp,ENST00000458381,NM_001171631.1;NOSTRIN,missense_variant,p.Glu163Asp,ENST00000317647,NM_001039724.3;NOSTRIN,missense_variant,p.Glu85Asp,ENST00000445023,NM_052946.3;NOSTRIN,missense_variant,p.Glu85Asp,ENST00000397206,;NOSTRIN,missense_variant,p.Glu135Asp,ENST00000397209,NM_001171632.1;NOSTRIN,missense_variant,p.Glu85Asp,ENST00000447264,;SPC25,intron_variant,,ENST00000479309,;NOSTRIN,downstream_gene_variant,,ENST00000439509,;	C	ENST00000444448	Transcript	missense_variant	965/2537	489/1692	163/563	E/D	gaG/gaC		1		1	NOSTRIN	HGNC	HGNC:20203	protein_coding	YES	CCDS54415.1	ENSP00000394051	Q8IVI9		UPI00001400FD		tolerated(0.18)		9/19		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51741,hmmpanther:PTHR14167,Superfamily_domains:SSF103657																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	62	168834310	168834310	G	C	1	0	0	0	0	1	0	0	0	10591	933	33	4		4	NOSTRIN	2	168834310	Missense_Mutation	SNP	G	C3N-00580_TP	1586767	168834310	73359219	173	19633											
LRP2	0	.	GRCh38	chr2	169140491	169140491	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtctcatcaaaatagcaaTttcctccgtgcatgcacctg	11	11	6	13	1	2	0	2	0	1	0	5	0	4	0	3	0	3	3	3	0	4	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.13163A>T	p.Asn4388Ile	p.N4388I	ENST00000263816	72/79	436	387	49	348	348	0	strelka-varscan-mutect	LRP2,missense_variant,p.Asn4388Ile,ENST00000263816,NM_004525.2;LRP2,upstream_gene_variant,,ENST00000491228,;	A	ENST00000263816	Transcript	missense_variant	13449/15808	13163/13968	4388/4655	N/I	aAt/aTt		1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2	tolerated(0.31)		72/79		Gene3D:2gy5A03,PROSITE_profiles:PS50026,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	169140491	169140491	T	A	1	0	0	0	0	1	0	0	0	8851	1493	52	4		4	LRP2	2	169140491	Missense_Mutation	SNP	T	C3N-00580_TP	306181	169140491	73053038	174	19634											
LRP2	0	.	GRCh38	chr2	169320839	169320839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcacacctccagtctgcaGggatgcaatgcccacttcca	10	8	7	16	0	2	0	1	0	1	0	4	1	4	1	4	1	3	2	4	1	1	1			C3N-00580_TP	C3N-00580_NB	G	G																c.125C>T	p.Pro42Leu	p.P42L	ENST00000263816	2/79	893	572	321	683	682	1	strelka-varscan-mutect	LRP2,missense_variant,p.Pro42Leu,ENST00000263816,NM_004525.2;LRP2,missense_variant,p.Pro42Leu,ENST00000443831,;	A	ENST00000263816	Transcript	missense_variant	411/15808	125/13968	42/4655	P/L	cCt/cTt	COSM3315154	1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2	tolerated(0.1)		2/79		Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_patterns:PS01209,PROSITE_profiles:PS50068,SMART_domains:SM00192,Superfamily_domains:SSF57424											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	62	169320839	169320839	G	A	1	0	0	0	0	1	0	0	0	8851	1000	35	3		3	LRP2	2	169320839	Missense_Mutation	SNP	G	C3N-00580_TP	180348	169320839	72872690	175	19635											
DLX2	0	.	GRCh38	chr2	172102466	172102466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcgggggctgctggtgctGgtggtacgtgctggaggcgg	2	9	22	8	3	0	0	0	0	0	0	1	1	0	1	0	8	4	6	0	8	1	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.73C>A	p.Gln25Lys	p.Q25K	ENST00000234198	1/3	156	105	51	214	214	0	strelka-varscan-mutect	DLX2,missense_variant,p.Gln25Lys,ENST00000234198,NM_004405.3;DLX2,missense_variant,p.Gln25Lys,ENST00000466293,;DLX2-AS1,upstream_gene_variant,,ENST00000448117,;	T	ENST00000234198	Transcript	missense_variant	435/2453	73/987	25/328	Q/K	Cag/Aag		1		-1	DLX2	HGNC	HGNC:2915	protein_coding	YES	CCDS2248.1	ENSP00000234198	Q07687	Q53QU7,X5D7D8	UPI00001294AC	NM_004405.3	deleterious_low_confidence(0.01)		1/3		hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF23																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	172102466	172102466	G	T	1	0	0	0	0	1	0	0	0	4378	1357	47	2		2	DLX2	2	172102466	Missense_Mutation	SNP	G	C3N-00580_TP	2781627	172102466	70091063	176	19636											
AC013461.1	0	.	GRCh38	chr2	173191115	173191115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggaactttcccatggatgGctccagaagttatccagagt	10	12	10	9	0	0	2	0	0	0	2	3	4	3	4	3	3	1	2	3	3	3	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.520G>A	p.Ala174Thr	p.A174T	ENST00000375213	7/20	316	237	79	257	256	1	strelka-varscan-mutect	AC013461.1,missense_variant,p.Ala174Thr,ENST00000338983,NM_133646.2;AC013461.1,missense_variant,p.Ala174Thr,ENST00000375213,NM_016653.2;AC013461.1,missense_variant,p.Ala174Thr,ENST00000409176,;AC013461.1,missense_variant,p.Ala174Thr,ENST00000539448,;AC013461.1,downstream_gene_variant,,ENST00000422149,;MLK7-AS1,intron_variant,,ENST00000419609,;MLK7-AS1,intron_variant,,ENST00000422703,;AC013461.1,non_coding_transcript_exon_variant,,ENST00000480606,;AC013461.1,non_coding_transcript_exon_variant,,ENST00000468408,;AC013461.1,non_coding_transcript_exon_variant,,ENST00000476618,;	A	ENST00000375213	Transcript	missense_variant	598/3741	520/2403	174/800	A/T	Gct/Act		1		1	AC013461.1	Clone_based_vega_gene		protein_coding	YES	CCDS42777.1	ENSP00000364361	Q9NYL2		UPI0000073F69	NM_016653.2	deleterious(0)		7/20		Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF424,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	173191115	173191115	G	A	1	0	0	0	0	1	0	0	0	124	1203	42	3		3	AC013461.1	2	173191115	Missense_Mutation	SNP	G	C3N-00580_TP	1088649	173191115	69002414	177	19637											
ATP5G3	0	.	GRCh38	chr2	175180107	175180107	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctactattacctctccagtCctactagcctctggtcgaga	8	12	7	14	1	2	1	0	0	2	1	5	2	3	1	4	1	4	1	4	1	5	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.111G>A	p.=	p.R37R	ENST00000284727	3/5	177	157	20	301	301	0	strelka-varscan-mutect	ATP5G3,synonymous_variant,p.=,ENST00000284727,NM_001689.4;ATP5G3,synonymous_variant,p.=,ENST00000392541,NM_001002258.4;ATP5G3,synonymous_variant,p.=,ENST00000409194,;Y_RNA,upstream_gene_variant,,ENST00000363251,;ATP5G3,non_coding_transcript_exon_variant,,ENST00000497075,;ATP5G3,non_coding_transcript_exon_variant,,ENST00000472782,;AC096649.1,upstream_gene_variant,,ENST00000416186,;	T	ENST00000284727	Transcript	synonymous_variant	3136/5484	111/429	37/142	R	agG/agA		1		-1	ATP5G3	HGNC	HGNC:843	protein_coding	YES	CCDS2263.1	ENSP00000284727	P48201		UPI0000000B4F	NM_001689.4			3/5		hmmpanther:PTHR10031,hmmpanther:PTHR10031:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	175180107	175180107	C	T	1	0	0	0	0	0	0	0	1	1308	854	30	3		3	ATP5G3	2	175180107	Silent	SNP	C	C3N-00580_TP	1988992	175180107	67013422	178	19638											
HOXD9	0	.	GRCh38	chr2	176124003	176124003	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccctacaccaaataccAgacgcttgagctggagaaag	13	7	9	12	1	0	3	0	1	0	2	1	4	1	3	3	1	3	2	3	1	4	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.887A>T	p.Gln296Leu	p.Q296L	ENST00000249499	2/2	309	225	84	336	336	0	strelka-varscan-mutect	HOXD9,missense_variant,p.Gln296Leu,ENST00000249499,NM_014213.3;HOXD10,downstream_gene_variant,,ENST00000249501,NM_002148.3;HOXD-AS2,intron_variant,,ENST00000440016,;HOXD10,downstream_gene_variant,,ENST00000490088,;HOXD10,downstream_gene_variant,,ENST00000549469,;	T	ENST00000249499	Transcript	missense_variant	936/1870	887/1059	296/352	Q/L	cAg/cTg		1		1	HOXD9	HGNC	HGNC:5140	protein_coding	YES	CCDS2267.2	ENSP00000249499	P28356		UPI000004A10E	NM_014213.3	deleterious(0)		2/2		PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF113,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	176124003	176124003	A	T	1	0	0	0	0	1	0	0	0	7220	188	7	4		4	HOXD9	2	176124003	Missense_Mutation	SNP	A	C3N-00580_TP	943896	176124003	66069526	179	19639											
TTN	0	.	GRCh38	chr2	178552711	178552711	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttctacaacatattcTgtgatgacgctaccaccatc	10	14	4	13	1	2	2	0	2	2	0	4	2	3	2	3	0	3	1	3	0	4	6	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.90189A>G	p.=	p.T30063T	ENST00000589042	335/363	426	395	31	281	281	0	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.4;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.2,downstream_gene_variant,,ENST00000603415,;RP11-65L3.3,upstream_gene_variant,,ENST00000624360,;	C	ENST00000589042	Transcript	synonymous_variant	90414/109224	90189/107976	30063/35991	T	acA/acG		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			335/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW		SNV	5			1										PASS		rs758914867	.												C	2	2	62	178552711	178552711	T	C	1	0	0	0	0	0	0	0	1	17245	1567	55	5		5	TTN	2	178552711	Silent	SNP	T	C3N-00580_TP	2428708	178552711	63640818	180	19640											
TTN	0	.	GRCh38	chr2	178688202	178688202	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttcctcctcttctgagtaActccattcctcctctgcaga	6	14	4	17	0	3	2	0	1	3	1	8	2	8	2	6	0	2	2	6	0	1	4			C3N-00580_TP	C3N-00580_NB	A	A																c.32220T>G	p.Ser10740Arg	p.S10740R	ENST00000589042	127/363	246	231	15	214	214	0	strelka-varscan-mutect	TTN,missense_variant,p.Ser10740Arg,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Ser10423Arg,ENST00000591111,;TTN,missense_variant,p.Ser10423Arg,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Ser9496Arg,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;	C	ENST00000589042	Transcript	missense_variant	32445/109224	32220/107976	10740/35991	S/R	agT/agG	COSM1269377	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			127/363		Low_complexity_(Seg):seg,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10											1						MODERATE	1	SNV	5		1	1										PASS		.	.												C	3	2	62	178688202	178688202	A	C	1	0	0	0	0	1	0	0	0	17245	40	2	5		5	TTN	2	178688202	Missense_Mutation	SNP	A	C3N-00580_TP	135491	178688202	63505327	181	19641											
TTN	0	.	GRCh38	chr2	178735764	178735764	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagcggactgcacaggctcTaattctttaatgaaatgtgg	12	12	10	7	1	2	1	0	1	2	0	2	2	2	2	0	3	2	2	0	3	4	5	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.14682A>G	p.=	p.L4894L	ENST00000589042	50/363	365	255	110	251	249	2	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000582847,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000627661,;TTN-AS1,upstream_gene_variant,,ENST00000590773,;TTN-AS1,upstream_gene_variant,,ENST00000631319,;	C	ENST00000589042	Transcript	synonymous_variant	14907/109224	14682/107976	4894/35991	L	ttA/ttG		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			50/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	62	178735764	178735764	T	C	1	0	0	0	0	0	0	0	1	17245	1519	53	5		5	TTN	2	178735764	Silent	SNP	T	C3N-00580_TP	47562	178735764	63457765	182	19642											
ZNF804A	0	.	GRCh38	chr2	184938039	184938039	+	Frame_Shift_Del	DEL	C	C	-																															ttaagaaacaaactgtctttCcaccctaacaatctccttcc																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2644delC	p.His882ThrfsTer17	p.H882Tfs*17	ENST00000302277	4/4	379	341	38	299	299	0	sindel-varindel-pindel	ZNF804A,frameshift_variant,p.His882ThrfsTer17,ENST00000302277,NM_194250.1;ZNF804A,frameshift_variant,p.His797ThrfsTer17,ENST00000613975,;	-	ENST00000302277	Transcript	frameshift_variant	3237/4690	2643/3630	881/1209	F/X	ttC/tt		1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1			4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	62	184938039	184938039	C	-	1	0	1	0	1	0	0	0	0	18755	854	30	0		0	ZNF804A	2	184938039	Frame_Shift_Del	DEL	C	C3N-00580_TP	6202275	184938039	57255490	183	19643											
COL3A1	0	.	GRCh38	chr2	188985707	188985707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaatggtgaccctggtattCcaggacaaccagggtcccct	10	8	11	12	0	0	1	0	1	0	0	2	3	2	2	5	4	1	1	5	4	3	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.376C>A	p.Pro126Thr	p.P126T	ENST00000304636	4/51	314	216	98	226	226	0	strelka-varscan-mutect	COL3A1,missense_variant,p.Pro126Thr,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Pro126Thr,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000470167,;	A	ENST00000304636	Transcript	missense_variant	546/5543	376/4401	126/1466	P/T	Cca/Aca		1		1	COL3A1	HGNC	HGNC:2201	protein_coding	YES	CCDS2297.1	ENSP00000304408	P02461		UPI0000456EBA	NM_000090.3	tolerated(0.12)		4/51		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	188985707	188985707	C	A	1	0	0	0	0	1	0	0	0	3477	855	30	2		2	COL3A1	2	188985707	Missense_Mutation	SNP	C	C3N-00580_TP	4047668	188985707	53207822	184	19644											
WDR75	0	.	GRCh38	chr2	189459366	189459366	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgatgataagaaatatacGtacacatgtttacattggca	16	13	7	5	1	0	3	0	2	0	1	0	3	0	3	0	1	3	3	0	1	7	8	rs115249680		C3N-00580_TP	C3N-00580_NB	G	G																c.720G>T	p.=	p.T240T	ENST00000314761	8/21	148	104	44	279	279	0	strelka-varscan-mutect	WDR75,synonymous_variant,p.=,ENST00000314761,NM_032168.2,NM_001303096.1;WDR75,3_prime_UTR_variant,,ENST00000427960,;WDR75,3_prime_UTR_variant,,ENST00000436347,;WDR75,downstream_gene_variant,,ENST00000472286,;WDR75,upstream_gene_variant,,ENST00000498365,;	T	ENST00000314761	Transcript	synonymous_variant	780/2701	720/2493	240/830	T	acG/acT	rs115249680	1		1	WDR75	HGNC	HGNC:25725	protein_coding	YES	CCDS2298.1	ENSP00000314193	Q8IWA0		UPI000007452C	NM_032168.2,NM_001303096.1			8/21		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF359,SMART_domains:SM00320,Superfamily_domains:SSF50998																	LOW	1	SNV	1			1										PASS		rs115249680	.												T	2	4	62	189459366	189459366	G	T	1	0	0	0	0	0	0	0	1	17881	1132	40	1		1	WDR75	2	189459366	Silent	SNP	G	C3N-00580_TP	473659	189459366	52734163	185	19645											
PLCL1	0	.	GRCh38	chr2	198083820	198083820	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagcagcatgccatcGgaaaagaaaattagcagtgc	14	9	9	9	1	2	1	1	0	1	1	3	2	2	2	1	1	5	3	1	1	5	2	rs757356633		C3N-00580_TP	C3N-00580_NB	G	G																c.303G>C	p.=	p.S101S	ENST00000428675	2/6	119	56	63	93	93	0	strelka-varscan-mutect	PLCL1,synonymous_variant,p.=,ENST00000437704,;PLCL1,synonymous_variant,p.=,ENST00000428675,NM_006226.3;PLCL1,synonymous_variant,p.=,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	C	ENST00000428675	Transcript	synonymous_variant	701/5125	303/3288	101/1095	S	tcG/tcC	rs757356633	1		1	PLCL1	HGNC	HGNC:9063	protein_coding	YES	CCDS2326.2	ENSP00000402861	Q15111		UPI000165BCF5	NM_006226.3			2/6		hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF102																	LOW	1	SNV	1			1										PASS		rs757356633	.												C	2	2	62	198083820	198083820	G	C	1	0	0	0	0	0	0	0	1	12133	1103	39	4		4	PLCL1	2	198083820	Silent	SNP	G	C3N-00580_TP	8624454	198083820	44109709	186	19646											
AOX1	0	.	GRCh38	chr2	200609087	200609087	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acacagatgtaccatgctctCctgaagcatttgggaactct	11	11	8	11	0	2	2	0	1	2	1	3	3	2	3	2	1	4	3	2	1	3	2			C3N-00580_TP	C3N-00580_NB	C	C																c.1011C>A	p.=	p.L337L	ENST00000374700	11/35	229	189	40	225	224	1	strelka-varscan-mutect	AOX1,synonymous_variant,p.=,ENST00000374700,NM_001159.3;AOX1,upstream_gene_variant,,ENST00000485106,;AOX1,upstream_gene_variant,,ENST00000465297,;AOX1,upstream_gene_variant,,ENST00000485965,;	A	ENST00000374700	Transcript	synonymous_variant	1252/5074	1011/4017	337/1338	L	ctC/ctA	COSM2906491	1		1	AOX1	HGNC	HGNC:553	protein_coding	YES	CCDS33360.1	ENSP00000363832	Q06278		UPI0000071863	NM_001159.3			11/35		PROSITE_profiles:PS51387,hmmpanther:PTHR11908:SF86,hmmpanther:PTHR11908,Pfam_domain:PF00941,Gene3D:3.30.465.10,PIRSF_domain:PIRSF000127,TIGRFAM_domain:TIGR02969,Superfamily_domains:SSF56176											1						LOW	1	SNV	1		1	1										PASS		rs1355744253	.												A	2	1	62	200609087	200609087	C	A	1	0	0	0	0	0	0	0	1	839	842	30	2		2	AOX1	2	200609087	Silent	SNP	C	C3N-00580_TP	2525267	200609087	41584442	187	19647											
CFLAR	0	.	GRCh38	chr2	201163857	201163857	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgcccactcctggatcttCacattgaactcaatggctac	11	10	6	14	1	3	1	2	1	1	0	4	2	4	2	2	2	3	1	2	2	4	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1327C>A	p.His443Asn	p.H443N	ENST00000309955	10/10	146	85	61	113	113	0	strelka-varscan-mutect	CFLAR,missense_variant,p.His443Asn,ENST00000309955,NM_003879.5;CFLAR,missense_variant,p.His443Asn,ENST00000423241,NM_001127183.2;CFLAR,missense_variant,p.His408Asn,ENST00000341582,NM_001202516.1;CFLAR,missense_variant,p.His347Asn,ENST00000443227,NM_001202517.1;CFLAR,downstream_gene_variant,,ENST00000457277,NM_001308042.1;CFLAR,downstream_gene_variant,,ENST00000479953,NM_001202519.1,NM_001202518.1;CFLAR,downstream_gene_variant,,ENST00000340870,;AC007283.5,upstream_gene_variant,,ENST00000434645,;CFLAR,non_coding_transcript_exon_variant,,ENST00000474842,;CFLAR,downstream_gene_variant,,ENST00000439154,;AC007283.4,upstream_gene_variant,,ENST00000424739,;	A	ENST00000309955	Transcript	missense_variant	1842/14672	1327/1443	443/480	H/N	Cac/Aac		1		1	CFLAR	HGNC	HGNC:1876	protein_coding	YES	CCDS2337.1	ENSP00000312455	O15519	A0A024R3Z7	UPI0000030475	NM_003879.5	deleterious(0)		10/10		Gene3D:3.40.50.1460,Pfam_domain:PF00656,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF8,SMART_domains:SM00115,Superfamily_domains:SSF52129																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	201163857	201163857	C	A	1	0	0	0	0	1	0	0	0	3050	826	29	2		2	CFLAR	2	201163857	Missense_Mutation	SNP	C	C3N-00580_TP	554770	201163857	41029672	188	19648											
CDK15	0	.	GRCh38	chr2	201835749	201835749	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccactgaatattcctcTgagctggacatatggtaaga	12	10	11	8	0	1	3	0	2	1	1	2	5	2	5	2	3	2	2	2	3	4	4	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.837T>A	p.=	p.S279S	ENST00000450471	8/14	163	108	55	151	151	0	strelka-varscan-mutect	CDK15,synonymous_variant,p.=,ENST00000450471,NM_001261435.1;CDK15,synonymous_variant,p.=,ENST00000434439,NM_001261436.1;CDK15,synonymous_variant,p.=,ENST00000410091,;CDK15,synonymous_variant,p.=,ENST00000260967,NM_139158.2;CDK15,non_coding_transcript_exon_variant,,ENST00000488419,;CDK15,3_prime_UTR_variant,,ENST00000451080,;	A	ENST00000450471	Transcript	synonymous_variant	923/3659	837/1290	279/429	S	tcT/tcA		1		1	CDK15	HGNC	HGNC:14434	protein_coding	YES	CCDS58747.1	ENSP00000406472	Q96Q40		UPI0001D3BDAF	NM_001261435.1			8/14		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	201835749	201835749	T	A	1	0	0	0	0	0	0	0	1	2835	1567	55	4		4	CDK15	2	201835749	Silent	SNP	T	C3N-00580_TP	671892	201835749	40357780	189	19649											
ZDBF2	0	.	GRCh38	chr2	206308396	206308396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaataaattttgattctCatgaaccccttcagtccgta	12	13	5	11	1	2	3	2	2	1	1	4	3	3	3	4	0	1	1	4	0	5	6	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.3868C>A	p.His1290Asn	p.H1290N	ENST00000374423	5/5	128	102	26	165	165	0	strelka-varscan-mutect	ZDBF2,missense_variant,p.His1290Asn,ENST00000374423,NM_020923.2;ZDBF2,missense_variant,p.His1288Asn,ENST00000611847,NM_001285549.1;	A	ENST00000374423	Transcript	missense_variant	4254/10286	3868/7065	1290/2354	H/N	Cat/Aat		1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2	tolerated(0.77)		5/5		hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	206308396	206308396	C	A	1	0	0	0	0	1	0	0	0	18174	826	29	2		2	ZDBF2	2	206308396	Missense_Mutation	SNP	C	C3N-00580_TP	4472647	206308396	35885133	190	19650											
ZDBF2	0	.	GRCh38	chr2	206308929	206308929	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcttcagtcagaagttgaCcaacctcaagtgtcttacaa	13	11	6	11	0	5	2	3	1	2	1	5	2	5	2	2	0	2	1	2	0	5	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.4401C>A	p.Asp1467Glu	p.D1467E	ENST00000374423	5/5	138	124	14	148	148	0	strelka-varscan-mutect	ZDBF2,missense_variant,p.Asp1467Glu,ENST00000374423,NM_020923.2;ZDBF2,missense_variant,p.Asp1465Glu,ENST00000611847,NM_001285549.1;	A	ENST00000374423	Transcript	missense_variant	4787/10286	4401/7065	1467/2354	D/E	gaC/gaA		1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2	tolerated(0.05)		5/5		hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	206308929	206308929	C	A	1	0	0	0	0	1	0	0	0	18174	506	18	2		2	ZDBF2	2	206308929	Missense_Mutation	SNP	C	C3N-00580_TP	533	206308929	35884600	191	19651											
ADAM23	0	.	GRCh38	chr2	206594822	206594822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccgtctatgatgtgtttaGatcggaagtgcctacaaatt	10	13	10	8	2	1	2	0	1	1	1	2	3	1	3	2	1	2	1	2	1	5	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2164G>C	p.Asp722His	p.D722H	ENST00000264377	23/26	315	262	53	287	287	0	strelka-varscan-mutect	ADAM23,missense_variant,p.Asp722His,ENST00000264377,NM_003812.3;ADAM23,missense_variant,p.Asp722His,ENST00000374415,;ADAM23,upstream_gene_variant,,ENST00000444281,;	C	ENST00000264377	Transcript	missense_variant	2492/6330	2164/2499	722/832	D/H	Gat/Cat		1		1	ADAM23	HGNC	HGNC:202	protein_coding	YES	CCDS2369.1	ENSP00000264377	O75077	A0A024R3W8	UPI0000044543	NM_003812.3	deleterious(0)		23/26		hmmpanther:PTHR11905:SF13,hmmpanther:PTHR11905,SMART_domains:SM00608																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	206594822	206594822	G	C	1	0	0	0	0	1	0	0	0	289	942	33	4		4	ADAM23	2	206594822	Missense_Mutation	SNP	G	C3N-00580_TP	285893	206594822	35598707	192	19652											
DYTN	0	.	GRCh38	chr2	206707365	206707365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggatgcacttgtcctGggttttcctccctggccttc	2	15	10	14	0	1	0	0	0	1	0	5	1	4	1	4	3	1	2	4	3	0	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.233C>A	p.Pro78Gln	p.P78Q	ENST00000452335	3/12	445	247	198	452	452	0	strelka-varscan-mutect	DYTN,missense_variant,p.Pro78Gln,ENST00000452335,NM_001093730.1;DYTN,upstream_gene_variant,,ENST00000477734,;	T	ENST00000452335	Transcript	missense_variant	350/2051	233/1737	78/578	P/Q	cCa/cAa		1		-1	DYTN	HGNC	HGNC:23279	protein_coding	YES	CCDS46502.1	ENSP00000396593	A2CJ06		UPI0000EE0AB9	NM_001093730.1	deleterious(0)		3/12		hmmpanther:PTHR11915:SF282,hmmpanther:PTHR11915,Pfam_domain:PF09068,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	206707365	206707365	G	T	1	0	0	0	0	1	0	0	0	4684	1348	47	2		2	DYTN	2	206707365	Missense_Mutation	SNP	G	C3N-00580_TP	112543	206707365	35486164	193	19653											
PIKFYVE	0	.	GRCh38	chr2	208340097	208340098	+	Frame_Shift_Ins	INS	-	-	CA																															catctttgcaaatttgcttcINScaggaaatagctataatcct																								novel		C3N-00580_TP	C3N-00580_NB	-	-																c.4898_4899dupCA	p.Gly1634GlnfsTer19	p.G1634Qfs*19	ENST00000264380	31/42	386	361	25	335	335	0	varindel-pindel	PIKFYVE,frameshift_variant,p.Gly1634GlnfsTer19,ENST00000264380,NM_015040.3;PIKFYVE,downstream_gene_variant,,ENST00000452564,;PIKFYVE,downstream_gene_variant,,ENST00000474721,;	CA	ENST00000264380	Transcript	frameshift_variant	5055-5056/9901	4897-4898/6297	1633/2098	P/PX	cca/cCAca		1		1	PIKFYVE	HGNC	HGNC:23785	protein_coding	YES	CCDS2382.1	ENSP00000264380	Q9Y2I7		UPI0000366FD6	NM_015040.3			31/42		hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF57																	HIGH	1	insertion	1	2		1										PASS		.	.												CA	7	5	62	208340097	208340097	-	CA	1	0	1	1	0	0	0	0	0	12019	855	30	0		0	PIKFYVE	2	208340097	Frame_Shift_Ins	INS	-	C3N-00580_TP	1632732	208340097	33853432	194	19654											
MAP2	0	.	GRCh38	chr2	209694634	209694634	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggtcaagattggcttctGtgagtgcagatgctgaggtt	9	12	14	6	0	2	4	1	2	1	2	2	4	2	4	0	3	2	4	0	3	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2464G>C	p.Val822Leu	p.V822L	ENST00000360351	7/15	194	158	36	186	186	0	strelka-varscan-mutect	MAP2,missense_variant,p.Val822Leu,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Val818Leu,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,NM_031845.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;	C	ENST00000360351	Transcript	missense_variant	2970/9711	2464/5484	822/1827	V/L	Gtg/Ctg		1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3	deleterious(0.01)		7/15		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15,Pfam_domain:PF08377																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	62	209694634	209694634	G	C	1	0	0	0	0	1	0	0	0	9157	1377	48	4		4	MAP2	2	209694634	Missense_Mutation	SNP	G	C3N-00580_TP	1354537	209694634	32498895	195	19655											
CPS1	0	.	GRCh38	chr2	210590189	210590189	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttgatcgcgggaggaccGgggaacccagctcttgcaga	9	8	14	10	3	1	2	0	1	1	1	2	5	1	5	2	4	3	2	2	4	1	3			C3N-00580_TP	C3N-00580_NB	G	G																c.813G>A	p.=	p.P271P	ENST00000430249	9/39	338	294	44	286	286	0	strelka-varscan-mutect	CPS1,synonymous_variant,p.=,ENST00000233072,NM_001875.4;CPS1,synonymous_variant,p.=,ENST00000430249,NM_001122633.2;CPS1,synonymous_variant,p.=,ENST00000619804,;CPS1,upstream_gene_variant,,ENST00000451903,NM_001122634.3;	A	ENST00000430249	Transcript	synonymous_variant	868/5698	813/4521	271/1506	P	ccG/ccA	COSM5632378,COSM5632379	1		1	CPS1	HGNC	HGNC:2323	protein_coding	YES	CCDS46505.1	ENSP00000402608	P31327		UPI000166C19F	NM_001122633.2			9/39		HAMAP:MF_01209,PROSITE_profiles:PS51273,hmmpanther:PTHR11405:SF38,hmmpanther:PTHR11405,Pfam_domain:PF00117,Gene3D:3.40.50.880,TIGRFAM_domain:TIGR01368,Superfamily_domains:SSF52317,Prints_domain:PR00099											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1174421173	.												A	2	1	62	210590189	210590189	G	A	1	0	0	0	0	0	0	0	1	3619	1103	39	1		1	CPS1	2	210590189	Silent	SNP	G	C3N-00580_TP	895555	210590189	31603340	196	19656											
CPS1	0	.	GRCh38	chr2	210654058	210654058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgacaaaatttgttgaaGgggcccgagaagtagaaatg	14	9	13	5	1	0	4	0	2	0	2	0	5	0	4	1	2	1	3	1	2	6	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.3532G>T	p.Gly1178Trp	p.G1178W	ENST00000430249	30/39	555	313	242	571	571	0	strelka-varscan-mutect	CPS1,missense_variant,p.Gly1172Trp,ENST00000233072,NM_001875.4;CPS1,missense_variant,p.Gly1178Trp,ENST00000430249,NM_001122633.2;CPS1,missense_variant,p.Gly721Trp,ENST00000451903,NM_001122634.3;CPS1,upstream_gene_variant,,ENST00000470791,;	T	ENST00000430249	Transcript	missense_variant	3587/5698	3532/4521	1178/1506	G/W	Ggg/Tgg		1		1	CPS1	HGNC	HGNC:2323	protein_coding	YES	CCDS46505.1	ENSP00000402608	P31327		UPI000166C19F	NM_001122633.2	deleterious(0)		30/39		PROSITE_profiles:PS50975,hmmpanther:PTHR11405:SF38,hmmpanther:PTHR11405,TIGRFAM_domain:TIGR01369,Pfam_domain:PF02786,Gene3D:3.30.470.20,Superfamily_domains:SSF56059																	MODERATE	1	SNV	1			1										PASS		rs1489457084	.												T	3	4	62	210654058	210654058	G	T	1	0	0	0	0	1	0	0	0	3619	1000	35	2		2	CPS1	2	210654058	Missense_Mutation	SNP	G	C3N-00580_TP	63869	210654058	31539471	197	19657											
ATIC	0	.	GRCh38	chr2	215349106	215349106	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcataggatgaagatttgAtaaagtggaaggcactgttt	13	11	12	5	1	0	3	0	2	0	1	0	5	0	5	1	3	0	3	1	3	5	4	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1516A>G	p.Ile506Val	p.I506V	ENST00000236959	15/16	231	142	89	225	225	0	strelka-varscan-mutect	ATIC,missense_variant,p.Ile505Val,ENST00000435675,;ATIC,missense_variant,p.Ile506Val,ENST00000236959,NM_004044.6;ATIC,missense_variant,p.Ile175Val,ENST00000426233,;ATIC,non_coding_transcript_exon_variant,,ENST00000442048,;ATIC,downstream_gene_variant,,ENST00000446622,;ATIC,3_prime_UTR_variant,,ENST00000443953,;ATIC,non_coding_transcript_exon_variant,,ENST00000479093,;ATIC,non_coding_transcript_exon_variant,,ENST00000478734,;ATIC,downstream_gene_variant,,ENST00000459796,;ATIC,downstream_gene_variant,,ENST00000467388,;	G	ENST00000236959	Transcript	missense_variant	1842/2213	1516/1779	506/592	I/V	Ata/Gta		1		1	ATIC	HGNC	HGNC:794	protein_coding	YES	CCDS2398.1	ENSP00000236959	P31939	V9HWH7	UPI000000122D	NM_004044.6	tolerated(0.46)		15/16		HAMAP:MF_00139,hmmpanther:PTHR11692:SF0,hmmpanther:PTHR11692,Gene3D:1g8mA01,PIRSF_domain:PIRSF000414,TIGRFAM_domain:TIGR00355,Superfamily_domains:SSF53927																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	215349106	215349106	A	G	1	0	0	0	0	1	0	0	0	1257	333	12	5		5	ATIC	2	215349106	Missense_Mutation	SNP	A	C3N-00580_TP	4695048	215349106	26844423	198	19658											
PTPRN	0	.	GRCh38	chr2	219300238	219300238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctctgctgtgtctctgcCctccaccggcccctccattg	4	11	8	18	1	2	0	0	0	2	0	5	0	4	0	6	1	3	2	6	1	1	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1183G>T	p.Gly395Cys	p.G395C	ENST00000295718	9/23	53	34	19	56	56	0	strelka-varscan-mutect	PTPRN,missense_variant,p.Gly395Cys,ENST00000295718,NM_002846.3;PTPRN,missense_variant,p.Gly395Cys,ENST00000409251,NM_001199763.1;PTPRN,missense_variant,p.Gly305Cys,ENST00000423636,NM_001199764.1;PTPRN,upstream_gene_variant,,ENST00000443981,;PTPRN,downstream_gene_variant,,ENST00000446182,;PTPRN,downstream_gene_variant,,ENST00000440552,;PTPRN,downstream_gene_variant,,ENST00000412847,;PTPRN,downstream_gene_variant,,ENST00000442029,;PTPRN,downstream_gene_variant,,ENST00000451506,;AC114803.3,intron_variant,,ENST00000417355,;PTPRN,upstream_gene_variant,,ENST00000497977,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,downstream_gene_variant,,ENST00000606213,;PTPRN,downstream_gene_variant,,ENST00000476930,;PTPRN,upstream_gene_variant,,ENST00000489650,;PTPRN,upstream_gene_variant,,ENST00000486480,;	A	ENST00000295718	Transcript	missense_variant	1424/3784	1183/2940	395/979	G/C	Ggc/Tgc		1		-1	PTPRN	HGNC	HGNC:9676	protein_coding	YES	CCDS2440.1	ENSP00000295718	Q16849		UPI0000132999	NM_002846.3	tolerated(0.09)		9/23		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	219300238	219300238	C	A	1	0	0	0	0	1	0	0	0	12961	623	22	2		2	PTPRN	2	219300238	Missense_Mutation	SNP	C	C3N-00580_TP	3951132	219300238	22893291	199	19659											
SPEG	0	.	GRCh38	chr2	219449172	219449172	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagagaagaggcttcgcAgagggccggaggaggacggt	11	3	20	7	3	0	3	0	0	0	3	1	7	0	6	1	7	0	3	1	7	1	1	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.2014A>T	p.Arg672Ter	p.R672*	ENST00000312358	4/41	32	23	9	40	40	0	strelka-varscan-mutect	SPEG,stop_gained,p.Arg672Ter,ENST00000312358,NM_005876.4;SPEG,stop_gained,p.Arg568Ter,ENST00000396698,;SPEG,downstream_gene_variant,,ENST00000431523,;SPEG,downstream_gene_variant,,ENST00000435853,;SPEG,downstream_gene_variant,,ENST00000451076,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,upstream_gene_variant,,ENST00000462545,;SPEG,downstream_gene_variant,,ENST00000491248,;SPEG,upstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000497065,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,intron_variant,,ENST00000409595,;SPEG,downstream_gene_variant,,ENST00000452101,;SPEG,downstream_gene_variant,,ENST00000420132,;SPEG,downstream_gene_variant,,ENST00000403148,;	T	ENST00000312358	Transcript	stop_gained	2146/10782	2014/9804	672/3267	R/*	Aga/Tga		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4			4/41																			HIGH	1	SNV	5			1										PASS		.	.												T	4	4	62	219449172	219449172	A	T	1	0	0	0	0	0	1	0	0	15387	180	7	4		4	SPEG	2	219449172	Nonsense_Mutation	SNP	A	C3N-00580_TP	148934	219449172	22744357	200	19660											
DNER	0	.	GRCh38	chr2	229388389	229388389	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttatgtcaatgtcgcaCtcttcacctagggagataag	11	13	8	9	1	4	1	3	0	1	1	5	2	4	1	1	1	0	1	1	1	4	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1731G>T	p.Glu577Asp	p.E577D	ENST00000341772	11/13	103	62	41	142	142	0	strelka-varscan-mutect	DNER,missense_variant,p.Glu577Asp,ENST00000341772,NM_139072.3;	A	ENST00000341772	Transcript	missense_variant	1866/3260	1731/2214	577/737	E/D	gaG/gaT		1		-1	DNER	HGNC	HGNC:24456	protein_coding	YES	CCDS33390.1	ENSP00000345229	Q8NFT8		UPI0000048EB8	NM_139072.3	tolerated(0.29)		11/13		PROSITE_profiles:PS50026,hmmpanther:PTHR24044:SF275,hmmpanther:PTHR24044,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	229388389	229388389	C	A	1	0	0	0	0	1	0	0	0	4480	564	20	2		2	DNER	2	229388389	Missense_Mutation	SNP	C	C3N-00580_TP	9939217	229388389	12805140	201	19661											
GPR55	0	.	GRCh38	chr2	230910485	230910485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatttttccactttcccatGgaaactgtagatagggatgc	10	14	9	8	0	0	1	0	0	0	1	2	3	2	3	2	2	2	2	2	2	4	6	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.478C>A	p.His160Asn	p.H160N	ENST00000392040	2/2	317	268	49	275	275	0	strelka-varscan-mutect	GPR55,missense_variant,p.His160Asn,ENST00000392040,NM_005683.3;GPR55,missense_variant,p.His160Asn,ENST00000622008,;GPR55,missense_variant,p.His160Asn,ENST00000392039,;GPR55,missense_variant,p.His160Asn,ENST00000438398,;AC012507.4,downstream_gene_variant,,ENST00000454890,;GPR55,missense_variant,p.His160Asn,ENST00000444078,;	T	ENST00000392040	Transcript	missense_variant	671/3828	478/960	160/319	H/N	Cat/Aat		1		-1	GPR55	HGNC	HGNC:4511	protein_coding	YES	CCDS2480.1	ENSP00000375894	Q9Y2T6	A8K858	UPI000006D64F	NM_005683.3	deleterious(0.01)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF56,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	62	230910485	230910485	G	T	1	0	0	0	0	1	0	0	0	6584	1348	47	2		2	GPR55	2	230910485	Missense_Mutation	SNP	G	C3N-00580_TP	1522096	230910485	11283044	202	19662											
USP40	0	.	GRCh38	chr2	233529513	233529513	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatcttggattagctcgagCtgtgaacaaaatttttcatt	12	16	7	6	1	2	1	1	1	1	0	3	3	2	2	0	1	3	2	0	1	5	6	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1505-1G>A		p.X502_splice	ENST00000450966		132	68	64	161	161	0	strelka-varscan-mutect	USP40,splice_acceptor_variant,,ENST00000251722,;USP40,splice_acceptor_variant,,ENST00000450966,NM_018218.2;USP40,splice_acceptor_variant,,ENST00000427112,;USP40,splice_acceptor_variant,,ENST00000485943,;	T	ENST00000450966	Transcript	splice_acceptor_variant	-/5616	1505/3744	502/1247				1		-1	USP40	HGNC	HGNC:20069	protein_coding	YES	CCDS46547.1	ENSP00000415434	Q9NVE5		UPI0000232F06	NM_018218.2				10/30																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	62	233529513	233529513	C	T	1	0	0	0	0	0	0	1	0	17614	811	28	3		3	USP40	2	233529513	Splice_Site	SNP	C	C3N-00580_TP	2619028	233529513	8664016	203	19663											
UGT1A9	0	.	GRCh38	chr2	233672639	233672639	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaatagcctctgaaattctCcaaacacctgttacggagta	14	10	7	10	1	2	1	0	1	2	0	3	3	2	2	3	1	3	2	3	1	6	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.705C>A	p.=	p.L235L	ENST00000354728	1/5	461	380	81	354	353	1	strelka-varscan-mutect	UGT1A9,synonymous_variant,p.=,ENST00000354728,NM_021027.2;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A10,intron_variant,,ENST00000373445,;	A	ENST00000354728	Transcript	synonymous_variant	787/2416	705/1593	235/530	L	ctC/ctA		1		1	UGT1A9	HGNC	HGNC:12541	protein_coding	YES	CCDS2505.1	ENSP00000346768	O60656	Q5DSZ5	UPI0000044213	NM_021027.2			1/5		hmmpanther:PTHR11926:SF173,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	233672639	233672639	C	A	1	0	0	0	0	0	0	0	1	17477	842	30	2		2	UGT1A9	2	233672639	Silent	SNP	C	C3N-00580_TP	143126	233672639	8520890	204	19664											
COL6A3	0	.	GRCh38	chr2	237372317	237372317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcgatgagaaagaccaCgtccctcttgccaccaacac	12	6	6	17	2	1	2	0	1	1	2	3	4	2	2	5	0	2	0	5	0	2	1	rs747082651		C3N-00580_TP	C3N-00580_NB	C	C																c.3700G>A	p.Val1234Met	p.V1234M	ENST00000295550	9/44	468	398	70	457	457	0	strelka-varscan-mutect	COL6A3,missense_variant,p.Val1234Met,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Val1028Met,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Val1028Met,ENST00000409809,;COL6A3,missense_variant,p.Val627Met,ENST00000472056,NM_057166.4;COL6A3,missense_variant,p.Val627Met,ENST00000347401,;COL6A3,missense_variant,p.Val1028Met,ENST00000392004,NM_057165.4;COL6A3,missense_variant,p.Val827Met,ENST00000392003,NM_057164.4;COL6A3,downstream_gene_variant,,ENST00000433762,;	T	ENST00000295550	Transcript	missense_variant	4153/10749	3700/9534	1234/3177	V/M	Gtg/Atg	rs747082651,COSM5461615,COSM5461616	1		-1	COL6A3	HGNC	HGNC:2213	protein_coding	YES	CCDS33412.1	ENSP00000295550	P12111	D9ZGF2	UPI0000456F39	NM_004369.3	deleterious(0)		9/44		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF74,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs747082651	.												T	3	4	62	237372317	237372317	C	T	1	0	0	0	0	1	0	0	0	3490	536	19	1		1	COL6A3	2	237372317	Missense_Mutation	SNP	C	C3N-00580_TP	3699678	237372317	4821212	205	19665											
COL6A3	0	.	GRCh38	chr2	237387642	237387642	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggccacgccaacaatgtAcggcagtaatttctcctgga	10	10	10	11	2	1	0	0	0	1	0	2	1	1	1	3	3	2	3	3	3	4	4			C3N-00580_TP	C3N-00580_NB	A	A																c.1252T>A	p.Tyr418Asn	p.Y418N	ENST00000295550	4/44	471	266	205	424	424	0	strelka-varscan-mutect	COL6A3,missense_variant,p.Tyr418Asn,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Tyr212Asn,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Tyr212Asn,ENST00000409809,;COL6A3,missense_variant,p.Tyr212Asn,ENST00000392004,NM_057165.4;COL6A3,missense_variant,p.Tyr418Asn,ENST00000433762,;COL6A3,missense_variant,p.Tyr146Asn,ENST00000491233,;COL6A3,intron_variant,,ENST00000472056,NM_057166.4;COL6A3,intron_variant,,ENST00000347401,;COL6A3,intron_variant,,ENST00000392003,NM_057164.4;	T	ENST00000295550	Transcript	missense_variant	1705/10749	1252/9534	418/3177	Y/N	Tac/Aac	COSM4648549,COSM4648550	1		-1	COL6A3	HGNC	HGNC:2213	protein_coding	YES	CCDS33412.1	ENSP00000295550	P12111	D9ZGF2	UPI0000456F39	NM_004369.3	tolerated(0.31)		4/44		PROSITE_profiles:PS50234,Superfamily_domains:SSF53300											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1321462371	.												T	3	4	62	237387642	237387642	A	T	1	0	0	0	0	1	0	0	0	3490	391	14	4		4	COL6A3	2	237387642	Missense_Mutation	SNP	A	C3N-00580_TP	15325	237387642	4805887	206	19666											
ANKMY1	0	.	GRCh38	chr2	240523973	240523973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccatcttcagcaagctgtGggactgggcgcttctctcca	6	10	12	13	1	3	0	1	0	2	0	5	1	4	1	2	3	2	3	2	3	1	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1744C>T	p.His582Tyr	p.H582Y	ENST00000401804	8/18	414	240	174	466	465	1	strelka-varscan-mutect	ANKMY1,missense_variant,p.His263Tyr,ENST00000405002,;ANKMY1,missense_variant,p.His582Tyr,ENST00000401804,NM_001282771.1;ANKMY1,missense_variant,p.His493Tyr,ENST00000272972,NM_016552.3;ANKMY1,missense_variant,p.His431Tyr,ENST00000403283,NM_001308375.1;ANKMY1,missense_variant,p.His352Tyr,ENST00000361678,NM_017844.3;ANKMY1,missense_variant,p.His352Tyr,ENST00000373318,NM_001282780.1;ANKMY1,missense_variant,p.His254Tyr,ENST00000406958,NM_001282781.1;ANKMY1,missense_variant,p.His352Tyr,ENST00000405523,;ANKMY1,3_prime_UTR_variant,,ENST00000391987,;ANKMY1,upstream_gene_variant,,ENST00000391988,;ANKMY1,downstream_gene_variant,,ENST00000443318,;ANKMY1,downstream_gene_variant,,ENST00000441168,;ANKMY1,downstream_gene_variant,,ENST00000462004,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000480230,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000459901,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000484526,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000496300,;	A	ENST00000401804	Transcript	missense_variant	1883/3232	1744/3093	582/1030	H/Y	Cac/Tac		1		-1	ANKMY1	HGNC	HGNC:20987	protein_coding	YES	CCDS63185.1	ENSP00000385887		J3KQ21	UPI0000209839	NM_001282771.1	tolerated(0.75)		8/18		hmmpanther:PTHR15897																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	240523973	240523973	G	A	1	0	0	0	0	1	0	0	0	735	1348	47	3		3	ANKMY1	2	240523973	Missense_Mutation	SNP	G	C3N-00580_TP	3136331	240523973	1669556	207	19667											
KIF1A	0	.	GRCh38	chr2	240758373	240758373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcccacctgcccaccagccGgaaccaggggaagcggtcat	9	3	12	17	3	1	0	1	0	0	0	1	2	1	2	6	4	4	0	6	4	2	0	rs372544960		C3N-00580_TP	C3N-00580_NB	G	G																c.2569C>T	p.Arg857Trp	p.R857W	ENST00000498729	26/49	69	62	7	97	97	0	strelka-mutect	KIF1A,missense_variant,p.Arg857Trp,ENST00000498729,NM_001244008.1;KIF1A,missense_variant,p.Arg848Trp,ENST00000320389,NM_004321.6;KIF1A,missense_variant,p.Arg857Trp,ENST00000404283,;	A	ENST00000498729	Transcript	missense_variant	2816/9223	2569/5376	857/1791	R/W	Cgg/Tgg	rs372544960,COSM2909861,COSM4311613	1		-1	KIF1A	HGNC	HGNC:888	protein_coding	YES	CCDS58757.1	ENSP00000438388	Q12756		UPI0002065B81	NM_001244008.1	deleterious(0)		26/49		Pfam_domain:PF12423,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF361											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs372544960	.												A	3	1	62	240758373	240758373	G	A	1	0	0	0	0	1	0	0	0	8147	1115	39	1		1	KIF1A	2	240758373	Missense_Mutation	SNP	G	C3N-00580_TP	234400	240758373	1435156	208	19668											
ATG4B	0	.	GRCh38	chr2	241653521	241653521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccacgacaggggggacagGccccacctcggacacaggct	9	3	14	15	2	0	0	0	0	0	0	1	3	0	2	4	6	1	1	4	6	0	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.194G>T	p.Gly65Val	p.G65V	ENST00000404914	4/13	175	145	30	257	257	0	strelka-varscan-mutect	ATG4B,missense_variant,p.Gly65Val,ENST00000405546,NM_178326.2;ATG4B,missense_variant,p.Gly65Val,ENST00000404914,NM_013325.4;ATG4B,missense_variant,p.Gly65Val,ENST00000425239,;ATG4B,missense_variant,p.Gly65Val,ENST00000400771,;ATG4B,5_prime_UTR_variant,,ENST00000402096,;ATG4B,5_prime_UTR_variant,,ENST00000430617,;ATG4B,5_prime_UTR_variant,,ENST00000419606,;ATG4B,5_prime_UTR_variant,,ENST00000429899,;ATG4B,downstream_gene_variant,,ENST00000625810,;ATG4B,downstream_gene_variant,,ENST00000491867,;ATG4B,3_prime_UTR_variant,,ENST00000344376,;ATG4B,3_prime_UTR_variant,,ENST00000400772,;ATG4B,3_prime_UTR_variant,,ENST00000415107,;ATG4B,non_coding_transcript_exon_variant,,ENST00000482507,;ATG4B,non_coding_transcript_exon_variant,,ENST00000494465,;ATG4B,non_coding_transcript_exon_variant,,ENST00000483778,;ATG4B,non_coding_transcript_exon_variant,,ENST00000493618,;ATG4B,non_coding_transcript_exon_variant,,ENST00000475195,;ATG4B,non_coding_transcript_exon_variant,,ENST00000468018,;ATG4B,non_coding_transcript_exon_variant,,ENST00000465399,;ATG4B,non_coding_transcript_exon_variant,,ENST00000479554,;	T	ENST00000404914	Transcript	missense_variant	297/2878	194/1182	65/393	G/V	gGc/gTc		1		1	ATG4B	HGNC	HGNC:20790	protein_coding	YES	CCDS46564.1	ENSP00000384259	Q9Y4P1		UPI00001AF16F	NM_013325.4	deleterious(0)		4/13		Pfam_domain:PF03416,hmmpanther:PTHR22624,hmmpanther:PTHR22624:SF39,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	241653521	241653521	G	T	1	0	0	0	0	1	0	0	0	1249	1203	42	2		2	ATG4B	2	241653521	Missense_Mutation	SNP	G	C3N-00580_TP	895148	241653521	540008	209	19669											
RTP5	0	.	GRCh38	chr2	241871981	241871981	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggaggcctatgagggCtgctgtgaggcctgtgagct	6	8	17	10	0	0	3	0	3	0	0	0	4	0	4	3	4	2	3	3	4	1	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.426C>A	p.=	p.G142G	ENST00000343216	2/2	97	57	40	144	144	0	strelka-varscan-mutect	RTP5,synonymous_variant,p.=,ENST00000343216,NM_173821.2;RTP5,3_prime_UTR_variant,,ENST00000419912,;	A	ENST00000343216	Transcript	synonymous_variant	454/2296	426/1719	142/572	G	ggC/ggA		1		1	RTP5	HGNC	HGNC:26585	protein_coding	YES	CCDS42843.1	ENSP00000345374	Q14D33		UPI000014050F	NM_173821.2			2/2		Pfam_domain:PF13695,hmmpanther:PTHR14402,hmmpanther:PTHR14402:SF2,SMART_domains:SM01328																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	241871981	241871981	C	A	1	0	0	0	0	0	0	0	1	13997	784	28	2		2	RTP5	2	241871981	Silent	SNP	C	C3N-00580_TP	218460	241871981	321548	210	19670											
CPNE9	0	.	GRCh38	chr3	9705475	9705475	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccaggtacaacgtggActccaaaaccaacatctcca	13	9	5	14	1	1	0	0	0	1	0	4	1	3	1	4	2	4	1	4	2	5	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.272A>C	p.Asp91Ala	p.D91A	ENST00000383832	5/21	103	56	47	137	137	0	strelka-varscan-mutect	CPNE9,missense_variant,p.Asp91Ala,ENST00000383832,NM_153635.2;CPNE9,missense_variant,p.Asp91Ala,ENST00000383831,NM_001308388.1;CPNE9,missense_variant,p.Asp91Ala,ENST00000613455,;MTMR14,downstream_gene_variant,,ENST00000296003,NM_001077525.2;MTMR14,downstream_gene_variant,,ENST00000353332,NM_001077526.2;MTMR14,downstream_gene_variant,,ENST00000351233,NM_022485.4;MTMR14,downstream_gene_variant,,ENST00000420925,;MTMR14,downstream_gene_variant,,ENST00000606184,;MTMR14,downstream_gene_variant,,ENST00000414996,;MTMR14,downstream_gene_variant,,ENST00000447144,;CPNE9,downstream_gene_variant,,ENST00000491802,;	C	ENST00000383832	Transcript	missense_variant	462/2068	272/1662	91/553	D/A	gAc/gCc		1		1	CPNE9	HGNC	HGNC:24336	protein_coding	YES	CCDS2574.2	ENSP00000373343	Q8IYJ1		UPI0000412048	NM_153635.2	deleterious(0)		5/21		PROSITE_profiles:PS50004,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF10,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	62	9705475	9705475	A	C	1	0	0	0	0	1	0	0	0	3614	275	10	5		5	CPNE9	3	9705475	Missense_Mutation	SNP	A	C3N-00580_TP		9705475	188590084	211	19671											
TIMP4	0	.	GRCh38	chr3	12158821	12158821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagcacccagcttggcgcgGgccgagggctcccaggcatg	7	4	15	15	3	0	0	0	0	0	0	1	1	1	0	3	4	2	4	3	4	0	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.20C>A	p.Pro7His	p.P7H	ENST00000287814	1/5	76	49	27	109	109	0	strelka-varscan-mutect	TIMP4,missense_variant,p.Pro7His,ENST00000287814,NM_003256.3;SYN2,intron_variant,,ENST00000620175,NM_003178.5;SYN2,intron_variant,,ENST00000621198,NM_133625.4;SYN2,non_coding_transcript_exon_variant,,ENST00000447752,;SYN2,intron_variant,,ENST00000439861,;SYN2,upstream_gene_variant,,ENST00000425297,;	T	ENST00000287814	Transcript	missense_variant	531/1650	20/675	7/224	P/H	cCc/cAc		1		-1	TIMP4	HGNC	HGNC:11823	protein_coding	YES	CCDS2608.1	ENSP00000287814	Q99727		UPI0000136FA3	NM_003256.3	deleterious(0.04)		1/5		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11844																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	12158821	12158821	G	T	1	0	0	0	0	1	0	0	0	16361	1232	43	2		2	TIMP4	3	12158821	Missense_Mutation	SNP	G	C3N-00580_TP	2453346	12158821	186136738	212	19672											
PPARG	0	.	GRCh38	chr3	12392744	12392744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccttgcagtggggatgtCtcataatggtaagtaaacag	12	11	12	6	0	1	0	1	0	1	0	2	1	1	1	1	3	3	3	1	3	4	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.611C>A	p.Ser204Tyr	p.S204Y	ENST00000287820	4/7	386	348	38	377	377	0	strelka-varscan-mutect	PPARG,missense_variant,p.Ser182Tyr,ENST00000397026,;PPARG,missense_variant,p.Ser176Tyr,ENST00000397010,;PPARG,missense_variant,p.Ser176Tyr,ENST00000397012,NM_138711.3;PPARG,missense_variant,p.Ser176Tyr,ENST00000309576,NM_138712.3;PPARG,missense_variant,p.Ser204Tyr,ENST00000287820,NM_015869.4;PPARG,missense_variant,p.Ser176Tyr,ENST00000397015,NM_005037.5;PPARG,missense_variant,p.Ser176Tyr,ENST00000397000,;PPARG,missense_variant,p.Ser176Tyr,ENST00000396999,;PPARG,3_prime_UTR_variant,,ENST00000397023,;PPARG,non_coding_transcript_exon_variant,,ENST00000477039,;PPARG,non_coding_transcript_exon_variant,,ENST00000497594,;	A	ENST00000287820	Transcript	missense_variant	732/1850	611/1518	204/505	S/Y	tCt/tAt		1		1	PPARG	HGNC	HGNC:9236	protein_coding	YES	CCDS2609.1	ENSP00000287820	P37231		UPI0000055911	NM_015869.4	deleterious(0)		4/7		PROSITE_profiles:PS51030,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF14,Pfam_domain:PF00105,Gene3D:1.10.565.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00398																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	12392744	12392744	C	A	1	0	0	0	0	1	0	0	0	12408	913	32	2		2	PPARG	3	12392744	Missense_Mutation	SNP	C	C3N-00580_TP	233923	12392744	185902815	213	19673											
RBMS3	0	.	GRCh38	chr3	29762910	29762910	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttacctttttttcccagAatggagtctactgaaaaatg	11	15	8	7	0	1	2	0	1	1	1	2	3	2	3	2	2	2	1	2	2	5	6	rs779082369		C3N-00580_TP	C3N-00580_NB	A	A																c.558A>T	p.Arg186Ser	p.R186S	ENST00000383767	6/15	106	91	15	208	207	1	strelka-varscan-mutect	RBMS3,missense_variant,p.Arg185Ser,ENST00000434693,;RBMS3,missense_variant,p.Arg185Ser,ENST00000383766,NM_001003792.2;RBMS3,missense_variant,p.Arg186Ser,ENST00000383767,NM_001003793.2;RBMS3,missense_variant,p.Arg252Ser,ENST00000636680,;RBMS3,missense_variant,p.Arg186Ser,ENST00000273139,NM_014483.3;RBMS3,missense_variant,p.Arg186Ser,ENST00000452462,NM_001177711.1;RBMS3,missense_variant,p.Arg186Ser,ENST00000456853,NM_001177712.1;RBMS3,missense_variant,p.Arg186Ser,ENST00000445033,;RBMS3,upstream_gene_variant,,ENST00000497319,;RP11-9J18.1,splice_region_variant,,ENST00000635992,;RBMS3,splice_region_variant,,ENST00000637842,;	T	ENST00000383767	Transcript	missense_variant,splice_region_variant	894/1864	558/1314	186/437	R/S	agA/agT	rs779082369	1		1	RBMS3	HGNC	HGNC:13427	protein_coding	YES	CCDS33724.1	ENSP00000373277	Q6XE24		UPI000023FE75	NM_001003793.2	deleterious(0.03)		6/15		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF473,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		rs779082369	.												T	3	4	62	29762910	29762910	A	T	1	0	0	0	0	1	0	0	0	13316	260	9	4		4	RBMS3	3	29762910	Missense_Mutation	SNP	A	C3N-00580_TP	17370166	29762910	168532649	214	19674											
STT3B	0	.	GRCh38	chr3	31576463	31576463	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttttaaattggtttgatGaaagagcatggtatccacta	14	15	8	4	0	0	3	0	2	0	1	1	3	1	3	1	2	1	3	1	2	6	7	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.382G>T	p.Glu128Ter	p.E128*	ENST00000295770	2/16	42	34	8	92	92	0	strelka-varscan-mutect	STT3B,stop_gained,p.Glu128Ter,ENST00000295770,NM_178862.2;STT3B,non_coding_transcript_exon_variant,,ENST00000453168,;STT3B,non_coding_transcript_exon_variant,,ENST00000423527,;STT3B,non_coding_transcript_exon_variant,,ENST00000462235,;	T	ENST00000295770	Transcript	stop_gained	591/4248	382/2481	128/826	E/*	Gaa/Taa		1		1	STT3B	HGNC	HGNC:30611	protein_coding	YES	CCDS2650.1	ENSP00000295770	Q8TCJ2		UPI000006D7FB	NM_178862.2			2/16		hmmpanther:PTHR13872,hmmpanther:PTHR13872:SF25,Pfam_domain:PF02516																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	62	31576463	31576463	G	T	1	0	0	0	0	0	1	0	0	15717	1291	45	2		2	STT3B	3	31576463	Nonsense_Mutation	SNP	G	C3N-00580_TP	1813553	31576463	166719096	215	19675											
SCN5A	0	.	GRCh38	chr3	38585765	38585765	+	Frame_Shift_Del	DEL	C	C	-																															ccccgacacctccatgcagtCccacatggtctcgatccact																										C3N-00580_TP	C3N-00580_NB	C	C																c.2713delG	p.Asp905ThrfsTer27	p.D905Tfs*27	ENST00000413689	16/28	205	168	37	174	174	0	sindel-varindel-pindel	SCN5A,frameshift_variant,p.Asp905ThrfsTer27,ENST00000413689,NM_001099404.1;SCN5A,frameshift_variant,p.Asp905ThrfsTer27,ENST00000333535,NM_198056.2;SCN5A,frameshift_variant,p.Asp905ThrfsTer27,ENST00000425664,NM_001099405.1;SCN5A,frameshift_variant,p.Asp905ThrfsTer27,ENST00000423572,NM_000335.4;SCN5A,frameshift_variant,p.Asp905ThrfsTer27,ENST00000451551,NM_001160161.1;SCN5A,frameshift_variant,p.Asp905ThrfsTer27,ENST00000414099,;SCN5A,frameshift_variant,p.Asp905ThrfsTer27,ENST00000455624,NM_001160160.1;SCN5A,frameshift_variant,p.Asp905ThrfsTer27,ENST00000450102,;SCN5A,frameshift_variant,p.Asp905ThrfsTer27,ENST00000449557,;	-	ENST00000413689	Transcript	frameshift_variant	2907/8504	2713/6051	905/2016	D/X	Gac/ac	COSM126042	1		-1	SCN5A	HGNC	HGNC:10593	protein_coding	YES	CCDS46799.1	ENSP00000410257		H9KVD2	UPI0001572CC8	NM_001099404.1			16/28		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF206,Superfamily_domains:SSF81324											1						HIGH	1	deletion	5		1	1										PASS		.	.												-	7	5	62	38585765	38585765	C	-	1	0	1	0	1	0	0	0	0	14191	855	30	0		0	SCN5A	3	38585765	Frame_Shift_Del	DEL	C	C3N-00580_TP	7009302	38585765	159709794	216	19676											
CSRNP1	0	.	GRCh38	chr3	39146675	39146675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaatttcctcttcaacagcCcagtcatggtggtgccggac	9	10	9	13	1	3	0	2	0	1	0	4	1	4	1	3	3	3	0	3	3	2	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.8G>T	p.Gly3Val	p.G3V	ENST00000273153	2/5	157	100	57	247	247	0	strelka-varscan-mutect	CSRNP1,missense_variant,p.Gly3Val,ENST00000273153,NM_001320560.1,NM_001320559.1,NM_033027.3;CSRNP1,missense_variant,p.Gly3Val,ENST00000514182,;	A	ENST00000273153	Transcript	missense_variant	186/3148	8/1770	3/589	G/V	gGg/gTg		1		-1	CSRNP1	HGNC	HGNC:14300	protein_coding	YES	CCDS2682.1	ENSP00000273153	Q96S65	A0A024R2N7	UPI0000044242	NM_001320560.1,NM_001320559.1,NM_033027.3	deleterious(0.02)		2/5		PROSITE_profiles:PS51257,hmmpanther:PTHR13580,hmmpanther:PTHR13580:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	39146675	39146675	C	A	1	0	0	0	0	1	0	0	0	3764	623	22	2		2	CSRNP1	3	39146675	Missense_Mutation	SNP	C	C3N-00580_TP	560910	39146675	159148884	217	19677											
XIRP1	0	.	GRCh38	chr3	39185170	39185170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgagggcattgagcttggGgggctcagagctctgggcat	6	10	18	7	0	2	3	1	2	1	1	2	3	2	3	0	5	2	6	0	5	0	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.4276C>A	p.Pro1426Thr	p.P1426T	ENST00000340369	2/2	69	56	13	88	88	0	strelka-varscan-mutect	XIRP1,missense_variant,p.Pro1426Thr,ENST00000340369,NM_194293.2;XIRP1,missense_variant,p.Pro109Thr,ENST00000421646,;XIRP1,3_prime_UTR_variant,,ENST00000396251,NM_001198621.2;	T	ENST00000340369	Transcript	missense_variant	4505/6460	4276/5532	1426/1843	P/T	Ccc/Acc		1		-1	XIRP1	HGNC	HGNC:14301	protein_coding	YES	CCDS2683.1	ENSP00000343140	Q702N8		UPI00001BFB06	NM_194293.2	tolerated_low_confidence(0.5)		2/2		hmmpanther:PTHR22591																	MODERATE	1	SNV	1			1										PASS		rs1421701853	.												T	3	4	62	39185170	39185170	G	T	1	0	0	0	0	1	0	0	0	17988	1232	43	2		2	XIRP1	3	39185170	Missense_Mutation	SNP	G	C3N-00580_TP	38495	39185170	159110389	218	19678											
FAM198A	0	.	GRCh38	chr3	43032507	43032507	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcttctggagaagccgtGctttgcccaggaactccatc	7	10	12	12	1	1	1	0	0	1	1	3	3	2	2	3	3	4	2	3	3	2	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.244G>C	p.Ala82Pro	p.A82P	ENST00000430121	2/5	176	150	26	177	177	0	strelka-varscan-mutect	FAM198A,missense_variant,p.Ala82Pro,ENST00000430121,NM_001129908.2;FAM198A,intron_variant,,ENST00000488863,;RP11-136C24.3,downstream_gene_variant,,ENST00000446977,;RP11-136C24.3,non_coding_transcript_exon_variant,,ENST00000418093,;RP11-136C24.3,downstream_gene_variant,,ENST00000451200,;FAM198A,missense_variant,p.Ala82Pro,ENST00000273146,;FAM198A,non_coding_transcript_exon_variant,,ENST00000434206,;FAM198A,intron_variant,,ENST00000492161,;RP11-136C24.3,intron_variant,,ENST00000443313,;RP11-136C24.1,upstream_gene_variant,,ENST00000417304,;	C	ENST00000430121	Transcript	missense_variant	339/3121	244/1728	82/575	A/P	Gct/Cct		1		1	FAM198A	HGNC	HGNC:24485	protein_coding	YES	CCDS46808.1	ENSP00000407301	Q9UFP1		UPI000016146E	NM_001129908.2	deleterious_low_confidence(0.04)		2/5		hmmpanther:PTHR15905,hmmpanther:PTHR15905:SF5																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	62	43032507	43032507	G	C	1	0	0	0	0	1	0	0	0	5375	1319	46	4		4	FAM198A	3	43032507	Missense_Mutation	SNP	G	C3N-00580_TP	3847337	43032507	155263052	219	19679											
FYCO1	0	.	GRCh38	chr3	45958561	45958561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgctcctttttgccacCgtgcttgctcaggacgtagt	5	12	11	13	3	1	0	1	0	0	0	2	1	2	1	3	1	4	5	3	1	1	4	rs780377697		C3N-00580_TP	C3N-00580_NB	C	C																c.3646G>T	p.Gly1216Cys	p.G1216C	ENST00000296137	13/18	635	386	249	665	664	1	strelka-varscan-mutect	FYCO1,missense_variant,p.Gly1216Cys,ENST00000535325,;FYCO1,missense_variant,p.Gly1216Cys,ENST00000296137,NM_024513.3;FYCO1,missense_variant,p.Gly5Cys,ENST00000433878,;FYCO1,5_prime_UTR_variant,,ENST00000438446,;	A	ENST00000296137	Transcript	missense_variant	3852/8504	3646/4437	1216/1478	G/C	Ggt/Tgt	rs780377697	1		-1	FYCO1	HGNC	HGNC:14673	protein_coding	YES	CCDS2734.1	ENSP00000296137	Q9BQS8		UPI000013E307	NM_024513.3	deleterious(0.02)		13/18		Gene3D:3.30.40.10,Pfam_domain:PF01363,PROSITE_profiles:PS50178,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF57,SMART_domains:SM00064,Superfamily_domains:SSF57903																	MODERATE	1	SNV	1			1										PASS		rs780377697	.												A	3	1	62	45958561	45958561	C	A	1	0	0	0	0	1	0	0	0	5996	652	23	1		1	FYCO1	3	45958561	Missense_Mutation	SNP	C	C3N-00580_TP	2926054	45958561	152336998	220	19680											
TMEM110	0	.	GRCh38	chr3	52855402	52855402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctaaacacataccatatcCtccacggacgtctttcatgc	12	10	4	15	2	2	0	1	0	1	0	4	1	4	1	4	1	3	0	4	1	4	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.203G>T	p.Arg68Met	p.R68M	ENST00000355083	2/8	232	211	21	239	238	1	strelka-varscan-mutect	TMEM110,missense_variant,p.Arg68Met,ENST00000355083,NM_198563.2;TMEM110-MUSTN1,missense_variant,p.Arg68Met,ENST00000504329,NM_001198974.2;TMEM110,upstream_gene_variant,,ENST00000485356,;TMEM110,3_prime_UTR_variant,,ENST00000467979,;	A	ENST00000355083	Transcript	missense_variant	349/4769	203/885	68/294	R/M	aGg/aTg		1		-1	TMEM110	HGNC	HGNC:30526	protein_coding	YES	CCDS2866.1	ENSP00000347195	Q86TL2		UPI000000DB9A	NM_198563.2	tolerated(0.06)		2/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR31735,hmmpanther:PTHR31735:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	52855402	52855402	C	A	1	0	0	0	0	1	0	0	0	16471	681	24	2		2	TMEM110	3	52855402	Missense_Mutation	SNP	C	C3N-00580_TP	6896841	52855402	145440157	221	19681											
CACNA1D	0	.	GRCh38	chr3	53723556	53723556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgattgcttcgtggtgtgtGgtggaatcactgagacgatc	7	14	14	6	2	1	2	1	2	0	1	3	5	1	3	0	3	1	1	0	3	1	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1849G>T	p.Gly617Cys	p.G617C	ENST00000288139	14/49	584	229	355	440	439	1	strelka-varscan-mutect	CACNA1D,missense_variant,p.Gly617Cys,ENST00000288139,NM_000720.3;CACNA1D,missense_variant,p.Gly597Cys,ENST00000350061,NM_001128840.2;CACNA1D,missense_variant,p.Gly597Cys,ENST00000636938,;CACNA1D,missense_variant,p.Gly621Cys,ENST00000637424,;CACNA1D,missense_variant,p.Gly597Cys,ENST00000636570,;CACNA1D,missense_variant,p.Gly597Cys,ENST00000422281,NM_001128839.2;CACNA1D,missense_variant,p.Gly290Cys,ENST00000481478,;CACNA1D,missense_variant,p.Gly364Cys,ENST00000636627,;CACNA1D,downstream_gene_variant,,ENST00000481085,;CACNA1D,downstream_gene_variant,,ENST00000637301,;	T	ENST00000288139	Transcript	missense_variant	2317/9341	1849/6546	617/2181	G/C	Ggt/Tgt		1		1	CACNA1D	HGNC	HGNC:1391	protein_coding	YES	CCDS2872.1	ENSP00000288139	Q01668		UPI000005031A	NM_000720.3	deleterious(0.05)		14/49		Gene3D:1.20.120.350,Pfam_domain:PF00520,Prints_domain:PR01630,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF139,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	53723556	53723556	G	T	1	0	0	0	0	1	0	0	0	2229	1348	47	2		2	CACNA1D	3	53723556	Missense_Mutation	SNP	G	C3N-00580_TP	868154	53723556	144572003	222	19682											
CACNA1D	0	.	GRCh38	chr3	53803449	53803449	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggagatgaacagctccCaactatttgccgggaagacc	12	7	10	12	1	1	3	1	1	0	2	2	5	2	4	3	2	4	1	3	2	4	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.5522C>A	p.Pro1841Gln	p.P1841Q	ENST00000288139	45/49	699	640	59	613	613	0	strelka-varscan-mutect	CACNA1D,missense_variant,p.Pro1841Gln,ENST00000288139,NM_000720.3;CACNA1D,missense_variant,p.Pro1821Gln,ENST00000350061,NM_001128840.2;CACNA1D,missense_variant,p.Pro1830Gln,ENST00000637424,;CACNA1D,missense_variant,p.Pro1806Gln,ENST00000636570,;CACNA1D,missense_variant,p.Pro1797Gln,ENST00000422281,NM_001128839.2;CACNA1D,missense_variant,p.Pro1514Gln,ENST00000481478,;CACNA1D,non_coding_transcript_exon_variant,,ENST00000636629,;CACNA1D,3_prime_UTR_variant,,ENST00000636448,;CACNA1D,non_coding_transcript_exon_variant,,ENST00000636633,;CACNA1D,non_coding_transcript_exon_variant,,ENST00000636999,;CACNA1D,non_coding_transcript_exon_variant,,ENST00000637844,;CACNA1D,upstream_gene_variant,,ENST00000636581,;CACNA1D,downstream_gene_variant,,ENST00000637589,;	A	ENST00000288139	Transcript	missense_variant	5990/9341	5522/6546	1841/2181	P/Q	cCa/cAa		1		1	CACNA1D	HGNC	HGNC:1391	protein_coding	YES	CCDS2872.1	ENSP00000288139	Q01668		UPI000005031A	NM_000720.3	deleterious_low_confidence(0.02)		45/49		Pfam_domain:PF16885,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF139																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	53803449	53803449	C	A	1	0	0	0	0	1	0	0	0	2229	594	21	2		2	CACNA1D	3	53803449	Missense_Mutation	SNP	C	C3N-00580_TP	79893	53803449	144492110	223	19683											
DNAH12	0	.	GRCh38	chr3	57468946	57468946	+	Silent	SNP	C	C	G																															acatcagcctccatgctttcCccattgaggtccaaaaaccc																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2139G>C	p.=	p.G713G	ENST00000495027	17/74	95	81	14	123	123	0	strelka-varscan-mutect	DNAH12,synonymous_variant,p.=,ENST00000495027,NM_001291661.1;DNAH12,synonymous_variant,p.=,ENST00000351747,;DNAH12,synonymous_variant,p.=,ENST00000389536,;	G	ENST00000495027	Transcript	synonymous_variant	2320/12146	2139/11883	713/3960	G	ggG/ggC		1		-1	DNAH12	HGNC	HGNC:2943	protein_coding			ENSP00000418137		E9PG32	UPI0004620994	NM_001291661.1			17/74		Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF255																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	62	57468946	57468946	C	G	1	0	0	0	0	0	0	0	1	4414	610	22	4		4	DNAH12	3	57468946	Silent	SNP	C	C3N-00580_TP	3665497	57468946	140826613	224	19684	415	2									
DNAH12	0	.	GRCh38	chr3	57468948	57468948	+	Missense_Mutation	SNP	C	C	A																															atcagcctccatgctttcccCattgaggtccaaaaaccctc																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2137G>T	p.Gly713Trp	p.G713W	ENST00000495027	17/74	97	83	14	128	128	0	strelka-varscan-mutect	DNAH12,missense_variant,p.Gly713Trp,ENST00000495027,NM_001291661.1;DNAH12,missense_variant,p.Gly713Trp,ENST00000351747,;DNAH12,missense_variant,p.Gly713Trp,ENST00000389536,;	A	ENST00000495027	Transcript	missense_variant	2318/12146	2137/11883	713/3960	G/W	Ggg/Tgg		1		-1	DNAH12	HGNC	HGNC:2943	protein_coding			ENSP00000418137		E9PG32	UPI0004620994	NM_001291661.1	deleterious(0)		17/74		Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF255																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	57468948	57468948	C	A	1	0	0	0	0	1	0	0	0	4414	594	21	2		2	DNAH12	3	57468948	Missense_Mutation	SNP	C	C3N-00580_TP	2	57468948	140826611	225	19685	415	2									
CADPS	0	.	GRCh38	chr3	62650846	62650846	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagggctcagggctttttaCctccaatgagaaagacagca	13	8	10	10	0	1	2	1	1	0	2	2	3	2	2	2	2	2	3	2	2	4	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1203+1G>A		p.X401_splice	ENST00000383710		194	83	111	137	137	0	strelka-varscan-mutect	CADPS,splice_donor_variant,,ENST00000383710,NM_003716.3;CADPS,splice_donor_variant,,ENST00000612439,;CADPS,splice_donor_variant,,ENST00000357948,NM_183393.2;CADPS,splice_donor_variant,,ENST00000283269,NM_183394.2;CADPS,splice_donor_variant,,ENST00000490353,;	T	ENST00000383710	Transcript	splice_donor_variant	-/5471	1203/4062	401/1353				1		-1	CADPS	HGNC	HGNC:1426	protein_coding	YES	CCDS46858.1	ENSP00000373215	Q9ULU8		UPI00001C036A	NM_003716.3				5/29																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	62	62650846	62650846	C	T	1	0	0	0	0	0	0	1	0	2260	521	18	3		3	CADPS	3	62650846	Splice_Site	SNP	C	C3N-00580_TP	5181898	62650846	135644713	226	19686											
ADAMTS9	0	.	GRCh38	chr3	64681254	64681254	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctctctggggggcgctgCgcctataaatgatgtggggt	5	11	16	9	2	2	1	0	1	2	0	3	1	2	1	1	5	1	2	1	5	3	2	rs146464879		C3N-00580_TP	C3N-00580_NB	C	C																c.626G>C	p.Arg209Pro	p.R209P	ENST00000498707	3/40	247	215	32	188	188	0	strelka-varscan-mutect	ADAMTS9,missense_variant,p.Arg209Pro,ENST00000498707,NM_182920.1;ADAMTS9,missense_variant,p.Arg209Pro,ENST00000295903,NM_001318781.1;ADAMTS9,missense_variant,p.Arg209Pro,ENST00000459780,;ADAMTS9-AS2,upstream_gene_variant,,ENST00000460833,;ADAMTS9-AS2,upstream_gene_variant,,ENST00000474768,;ADAMTS9-AS2,upstream_gene_variant,,ENST00000481312,;ADAMTS9-AS2,upstream_gene_variant,,ENST00000485174,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000475557,;	G	ENST00000498707	Transcript	missense_variant	969/7624	626/5808	209/1935	R/P	cGc/cCc	rs146464879,COSM1048065	1		-1	ADAMTS9	HGNC	HGNC:13202	protein_coding	YES	CCDS2903.1	ENSP00000418735	Q9P2N4		UPI00000463F0	NM_182920.1	deleterious(0.02)		3/40		hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs146464879	.												G	3	3	62	64681254	64681254	C	G	1	0	0	0	0	1	0	0	0	317	768	27	4		4	ADAMTS9	3	64681254	Missense_Mutation	SNP	C	C3N-00580_TP	2030408	64681254	133614305	227	19687											
EIF4E3	0	.	GRCh38	chr3	71696488	71696488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggggactttcatcttcCatacgccaccctttgcatta	7	14	6	14	1	2	0	1	0	1	0	3	1	3	1	4	2	2	1	4	2	2	6	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.377G>T	p.Trp126Leu	p.W126L	ENST00000425534	4/7	245	226	19	200	200	0	strelka-varscan-mutect	EIF4E3,missense_variant,p.Trp126Leu,ENST00000425534,NM_001134651.1;EIF4E3,missense_variant,p.Trp20Leu,ENST00000448225,NM_001134649.2;EIF4E3,missense_variant,p.Trp20Leu,ENST00000389826,NM_001134650.1;EIF4E3,missense_variant,p.Trp20Leu,ENST00000295612,NM_001282886.1;EIF4E3,missense_variant,p.Trp20Leu,ENST00000421769,NM_173359.4;EIF4E3,missense_variant,p.Trp20Leu,ENST00000497838,;EIF4E3,missense_variant,p.Trp20Leu,ENST00000496214,;EIF4E3,missense_variant,p.Trp20Leu,ENST00000469524,;EIF4E3,intron_variant,,ENST00000468147,;EIF4E3,intron_variant,,ENST00000481525,;	A	ENST00000425534	Transcript	missense_variant	385/9949	377/675	126/224	W/L	tGg/tTg		1		-1	EIF4E3	HGNC	HGNC:31837	protein_coding	YES	CCDS46867.1	ENSP00000393324	Q8N5X7		UPI00015887BF	NM_001134651.1	deleterious(0)		4/7		Gene3D:3.30.760.10,Pfam_domain:PF01652,hmmpanther:PTHR11960,hmmpanther:PTHR11960:SF6,Superfamily_domains:SSF55418																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	62	71696488	71696488	C	A	1	0	0	0	0	1	0	0	0	4865	595	21	2		2	EIF4E3	3	71696488	Missense_Mutation	SNP	C	C3N-00580_TP	7015234	71696488	126599071	228	19688											
SHQ1	0	.	GRCh38	chr3	72848239	72848239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaacttgaagtcagacccCtcgaagtagacgtcgaactc	13	8	9	11	3	1	4	1	1	0	3	4	6	1	4	2	0	2	1	2	0	6	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.102G>T	p.Glu34Asp	p.E34D	ENST00000325599	1/11	351	324	27	340	340	0	strelka-varscan-mutect	SHQ1,missense_variant,p.Glu34Asp,ENST00000325599,NM_018130.2;SHQ1,intron_variant,,ENST00000482785,;SHQ1,upstream_gene_variant,,ENST00000463369,;SHQ1,missense_variant,p.Glu34Asp,ENST00000444040,;SHQ1,missense_variant,p.Glu34Asp,ENST00000471526,;	A	ENST00000325599	Transcript	missense_variant	242/2879	102/1734	34/577	E/D	gaG/gaT		1		-1	SHQ1	HGNC	HGNC:25543	protein_coding	YES	CCDS33788.1	ENSP00000315182	Q6PI26		UPI00001416C5	NM_018130.2	tolerated(0.5)		1/11		PROSITE_profiles:PS51203,hmmpanther:PTHR12967,hmmpanther:PTHR12967:SF0,Superfamily_domains:SSF49764																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	72848239	72848239	C	A	1	0	0	0	0	1	0	0	0	14555	680	24	2		2	SHQ1	3	72848239	Missense_Mutation	SNP	C	C3N-00580_TP	1151751	72848239	125447320	229	19689											
ZNF717	0	.	GRCh38	chr3	75739135	75739135	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatagggaaaagcatgttcTggcaatcattaaactgccca	15	10	8	8	0	2	0	1	0	1	0	2	1	2	1	1	2	3	3	1	2	7	4	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.338A>T	p.Gln113Leu	p.Q113L	ENST00000478296	4/4	83	39	44	82	82	0	strelka-varscan-mutect	ZNF717,missense_variant,p.Gln113Leu,ENST00000478296,NM_001290209.1;ZNF717,intron_variant,,ENST00000477374,NM_001290210.1;ZNF717,downstream_gene_variant,,ENST00000468296,;ZNF717,downstream_gene_variant,,ENST00000471541,;MIR4273,downstream_gene_variant,,ENST00000582824,;ZNF717,intron_variant,,ENST00000491507,;	A	ENST00000478296	Transcript	missense_variant	615/3875	338/2595	113/864	Q/L	cAg/cTg		1		-1	ZNF717	HGNC	HGNC:29448	protein_coding	YES	CCDS77773.1	ENSP00000419377		C9JVC3	UPI0001B794C0	NM_001290209.1	tolerated(0.22)		4/4																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	75739135	75739135	T	A	1	0	0	0	0	1	0	0	0	18695	1580	55	4		4	ZNF717	3	75739135	Missense_Mutation	SNP	T	C3N-00580_TP	2890896	75739135	122556424	230	19690											
OR5AC2	0	.	GRCh38	chr3	98087308	98087308	+	Nonsense_Mutation	SNP	G	G	T																															tcaccatggtgggcaaccttGgactgatagttctaatttgg																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.136G>T	p.Gly46Ter	p.G46*	ENST00000358642	1/1	179	129	50	161	160	1	strelka-varscan-mutect	OR5AC2,stop_gained,p.Gly46Ter,ENST00000358642,NM_054106.1;	T	ENST00000358642	Transcript	stop_gained	136/930	136/930	46/309	G/*	Gga/Tga		1		1	OR5AC2	HGNC	HGNC:15431	protein_coding	YES	CCDS33796.1	ENSP00000351466	Q9NZP5		UPI0000441EFD	NM_054106.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF96,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	HIGH	1	SNV				1										PASS		.	.												T	4	4	62	98087308	98087308	G	T	1	0	0	0	0	0	1	0	0	11213	1349	47	2		2	OR5AC2	3	98087308	Nonsense_Mutation	SNP	G	C3N-00580_TP	22348173	98087308	100208251	231	19691	416	2									
OR5AC2	0	.	GRCh38	chr3	98087309	98087309	+	Missense_Mutation	SNP	G	G	T																															caccatggtgggcaaccttgGactgatagttctaatttgga																								rs775449904		C3N-00580_TP	C3N-00580_NB	G	G																c.137G>T	p.Gly46Val	p.G46V	ENST00000358642	1/1	178	127	51	160	160	0	strelka-varscan-mutect	OR5AC2,missense_variant,p.Gly46Val,ENST00000358642,NM_054106.1;	T	ENST00000358642	Transcript	missense_variant	137/930	137/930	46/309	G/V	gGa/gTa	rs775449904	1		1	OR5AC2	HGNC	HGNC:15431	protein_coding	YES	CCDS33796.1	ENSP00000351466	Q9NZP5		UPI0000441EFD	NM_054106.1	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF96,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs775449904	.												T	3	4	62	98087309	98087309	G	T	1	0	0	0	0	1	0	0	0	11213	1174	41	2		2	OR5AC2	3	98087309	Missense_Mutation	SNP	G	C3N-00580_TP	1	98087309	100208250	232	19692	416	2									
ABI3BP	0	.	GRCh38	chr3	100750591	100750591	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaaattggacaggttcctgGcgaactgctctgaaataacc	12	9	9	11	1	1	1	0	1	1	0	2	3	2	2	3	3	3	2	3	3	4	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.3132C>A	p.=	p.R1044R	ENST00000284322	35/35	201	177	24	180	180	0	strelka-varscan-mutect	ABI3BP,synonymous_variant,p.=,ENST00000471714,;ABI3BP,synonymous_variant,p.=,ENST00000284322,NM_015429.3;ABI3BP,synonymous_variant,p.=,ENST00000495591,;TFG,downstream_gene_variant,,ENST00000240851,NM_006070.5,NM_001195478.1;TFG,downstream_gene_variant,,ENST00000476228,NM_001195479.1;TFG,downstream_gene_variant,,ENST00000418917,;TFG,downstream_gene_variant,,ENST00000490574,NM_001007565.2;TFG,downstream_gene_variant,,ENST00000620299,;TFG,downstream_gene_variant,,ENST00000615993,;TFG,downstream_gene_variant,,ENST00000481203,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000470336,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000487012,;ABI3BP,downstream_gene_variant,,ENST00000497021,;	T	ENST00000284322	Transcript	synonymous_variant	3242/4498	3132/3228	1044/1075	R	cgC/cgA		1		-1	ABI3BP	HGNC	HGNC:17265	protein_coding	YES	CCDS46880.1	ENSP00000284322	Q7Z7G0		UPI000011C136	NM_015429.3			35/35		hmmpanther:PTHR23197:SF10,hmmpanther:PTHR23197																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	100750591	100750591	G	T	1	0	0	0	0	0	0	0	1	101	1190	42	2		2	ABI3BP	3	100750591	Silent	SNP	G	C3N-00580_TP	2663282	100750591	97544968	233	19693											
ABI3BP	0	.	GRCh38	chr3	100834750	100834750	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggacgtggacgacgtgttcTtgttcgttgcgatgtttttg	4	16	15	6	5	1	0	0	0	1	0	2	4	1	2	0	2	1	4	0	2	0	6	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.2236A>T	p.Arg746Ter	p.R746*	ENST00000471714	29/67	267	239	28	209	209	0	strelka-varscan-mutect	ABI3BP,stop_gained,p.Arg746Ter,ENST00000471714,;ABI3BP,stop_gained,p.Arg746Ter,ENST00000495063,;ABI3BP,stop_gained,p.Arg153Ter,ENST00000495591,;ABI3BP,stop_gained,p.Arg112Ter,ENST00000533795,;ABI3BP,stop_gained,p.Arg78Ter,ENST00000528490,;ABI3BP,stop_gained,p.Arg29Ter,ENST00000466947,;ABI3BP,stop_gained,p.Arg89Ter,ENST00000534413,;ABI3BP,intron_variant,,ENST00000284322,NM_015429.3;ABI3BP,intron_variant,,ENST00000528305,;ABI3BP,upstream_gene_variant,,ENST00000471901,;ABI3BP,downstream_gene_variant,,ENST00000533855,;ABI3BP,upstream_gene_variant,,ENST00000478235,;ABI3BP,downstream_gene_variant,,ENST00000534256,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000487012,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000487249,;ABI3BP,intron_variant,,ENST00000470336,;	A	ENST00000471714	Transcript	stop_gained	2346/6783	2236/5334	746/1777	R/*	Aga/Tga		1		-1	ABI3BP	HGNC	HGNC:17265	protein_coding			ENSP00000420524		D3YTG3	UPI00004225FE				29/67		hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF10,Low_complexity_(Seg):seg																	HIGH		SNV	5			1										PASS		rs1268838091	.												A	4	1	62	100834750	100834750	T	A	1	0	0	0	0	0	1	0	0	101	1617	56	4		4	ABI3BP	3	100834750	Nonsense_Mutation	SNP	T	C3N-00580_TP	84159	100834750	97460809	234	19694											
DZIP3	0	.	GRCh38	chr3	108625883	108625883	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataaatttctggtgatgaaGatgatgatccaagaaaatga	18	11	9	3	0	1	7	0	5	1	2	2	7	2	7	1	1	0	0	1	1	7	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.495G>A	p.=	p.K165K	ENST00000361582	7/33	109	50	59	114	114	0	strelka-mutect	DZIP3,synonymous_variant,p.=,ENST00000361582,NM_014648.3;DZIP3,synonymous_variant,p.=,ENST00000463306,;DZIP3,synonymous_variant,p.=,ENST00000479138,;DZIP3,synonymous_variant,p.=,ENST00000486815,;DZIP3,synonymous_variant,p.=,ENST00000495008,;	A	ENST00000361582	Transcript	synonymous_variant	725/5350	495/3627	165/1208	K	aaG/aaA		1		1	DZIP3	HGNC	HGNC:30938	protein_coding	YES	CCDS2952.1	ENSP00000355028	Q86Y13		UPI000006E7D4	NM_014648.3			7/33																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	108625883	108625883	G	A	1	0	0	0	0	0	0	0	1	4689	933	33	3		3	DZIP3	3	108625883	Silent	SNP	G	C3N-00580_TP	7791133	108625883	89669676	235	19695											
AC026348.1	0	.	GRCh38	chr3	113305037	113305037	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccccagacgcatcaccTggtggagcttgagcggaatc	8	7	12	14	2	1	2	1	1	0	1	3	4	2	4	4	3	2	2	4	3	1	1	rs748163260		C3N-00580_TP	C3N-00580_NB	T	T																c.4874A>T	p.Gln1625Leu	p.Q1625L	ENST00000393845	30/34	173	95	78	186	186	0	strelka-varscan-mutect	AC026348.1,missense_variant,p.Gln1625Leu,ENST00000393845,NM_001164496.1;CFAP44,missense_variant,p.Gln762Leu,ENST00000465636,;CFAP44,missense_variant,p.Gln246Leu,ENST00000461734,;CFAP44,upstream_gene_variant,,ENST00000489244,;CFAP44,upstream_gene_variant,,ENST00000465510,;	A	ENST00000393845	Transcript	missense_variant,splice_region_variant	4874/5565	4874/5565	1625/1854	Q/L	cAg/cTg	rs748163260	1		-1	AC026348.1	Clone_based_ensembl_gene		protein_coding	YES	CCDS54624.1	ENSP00000377428	Q96MT7		UPI0000367198	NM_001164496.1	deleterious(0)		30/34		hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18																	MODERATE	1	SNV	5			1										PASS		rs748163260	.												A	3	1	62	113305037	113305037	T	A	1	0	0	0	0	1	0	0	0	128	1594	55	4		4	AC026348.1	3	113305037	Missense_Mutation	SNP	T	C3N-00580_TP	4679154	113305037	84990522	236	19696											
DRD3	0	.	GRCh38	chr3	114171906	114171906	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagagggcatagtaggcAtgtgggcgggcctggctggc	7	7	20	7	1	0	1	0	0	0	1	0	2	0	1	1	7	0	4	1	7	3	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.87T>A	p.His29Gln	p.H29Q	ENST00000383673	2/7	124	107	17	120	120	0	strelka-varscan-mutect	DRD3,missense_variant,p.His29Gln,ENST00000383673,NM_000796.5;DRD3,missense_variant,p.His29Gln,ENST00000460779,NM_001282563.2;DRD3,missense_variant,p.His29Gln,ENST00000467632,NM_001290809.1;DRD3,missense_variant,p.His29Gln,ENST00000295881,NM_033663.5;	T	ENST00000383673	Transcript	missense_variant	518/1640	87/1203	29/400	H/Q	caT/caA		1		-1	DRD3	HGNC	HGNC:3024	protein_coding	YES	CCDS2978.1	ENSP00000373169	P35462	X5D2G4	UPI000013E2C2	NM_000796.5	deleterious(0.03)		2/7		hmmpanther:PTHR24249:SF38,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00568																	MODERATE	1	SNV	1			1										PASS		rs1158923776	.												T	3	4	62	114171906	114171906	A	T	1	0	0	0	0	1	0	0	0	4577	214	8	4		4	DRD3	3	114171906	Missense_Mutation	SNP	A	C3N-00580_TP	866869	114171906	84123653	237	19697											
GAP43	0	.	GRCh38	chr3	115676392	115676392	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaggagaaggccggctCagctgagacagaaagtgcca	13	4	14	10	1	2	4	2	1	0	4	2	6	2	4	2	3	2	2	2	3	2	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.518C>A	p.Ser173Ter	p.S173*	ENST00000393780	3/4	160	116	44	143	142	1	strelka-varscan-mutect	GAP43,stop_gained,p.Ser173Ter,ENST00000393780,NM_001130064.1;GAP43,stop_gained,p.Ser137Ter,ENST00000305124,NM_002045.3;	A	ENST00000393780	Transcript	stop_gained	986/1901	518/825	173/274	S/*	tCa/tAa		1		1	GAP43	HGNC	HGNC:4140	protein_coding	YES	CCDS46890.1	ENSP00000377372	P17677		UPI0000209FC5	NM_001130064.1			3/4		hmmpanther:PTHR10699:SF15,hmmpanther:PTHR10699,Pfam_domain:PF06614																	HIGH	1	SNV	1			1										PASS		rs1185272164	.												A	4	1	62	115676392	115676392	C	A	1	0	0	0	0	0	1	0	0	6103	838	29	2		2	GAP43	3	115676392	Nonsense_Mutation	SNP	C	C3N-00580_TP	1504486	115676392	82619167	238	19698											
LSAMP	0	.	GRCh38	chr3	116086527	116086528	+	Frame_Shift_Ins	INS	-	-	G																															agaacggttcaaccaggccaINScctttgagttcttgtcttct																								novel		C3N-00580_TP	C3N-00580_NB	-	-																c.184_185insC	p.Val62AlafsTer15	p.V62Afs*15	ENST00000490035	2/7	305	153	152	255	255	0	sindel-varindel	LSAMP,frameshift_variant,p.Val62AlafsTer15,ENST00000490035,NM_002338.3;LSAMP,frameshift_variant,p.Val12AlafsTer15,ENST00000539563,;LSAMP,frameshift_variant,p.Val46AlafsTer15,ENST00000333617,;LSAMP,frameshift_variant,p.Val96AlafsTer15,ENST00000474851,;	G	ENST00000490035	Transcript	frameshift_variant	684-685/9446	184-185/1017	62/338	V/AX	gtg/gCtg		1		-1	LSAMP	HGNC	HGNC:6705	protein_coding	YES	CCDS2982.1	ENSP00000419000	Q13449		UPI00000746A0	NM_002338.3			2/7		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF118,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	62	116086527	116086527	-	G	1	0	1	1	0	0	0	0	0	8954	159	6	0		0	LSAMP	3	116086527	Frame_Shift_Ins	INS	-	C3N-00580_TP	410135	116086527	82209032	239	19699	417	2									
LSAMP	0	.	GRCh38	chr3	116086529	116086529	+	Silent	SNP	C	C	T																															gaacggttcaaccaggccacCtttgagttcttgtcttctac																										C3N-00580_TP	C3N-00580_NB	C	C																c.183G>A	p.=	p.K61K	ENST00000490035	2/7	322	164	158	256	256	0	strelka-mutect	LSAMP,synonymous_variant,p.=,ENST00000490035,NM_002338.3;LSAMP,synonymous_variant,p.=,ENST00000539563,;LSAMP,synonymous_variant,p.=,ENST00000333617,;LSAMP,synonymous_variant,p.=,ENST00000474851,;	T	ENST00000490035	Transcript	synonymous_variant	683/9446	183/1017	61/338	K	aaG/aaA	COSM387351	1		-1	LSAMP	HGNC	HGNC:6705	protein_coding	YES	CCDS2982.1	ENSP00000419000	Q13449		UPI00000746A0	NM_002338.3			2/7		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF118,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	62	116086529	116086529	C	T	1	0	0	0	0	0	0	0	1	8954	680	24	3		3	LSAMP	3	116086529	Silent	SNP	C	C3N-00580_TP	2	116086529	82209030	240	19700	417	2									
STXBP5L	0	.	GRCh38	chr3	121378853	121378853	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggcccagtcagcagccTgcatggagatttctttacca	11	9	10	11	0	2	1	1	0	1	1	2	3	2	1	3	2	4	2	3	2	2	3	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.2386T>A	p.Cys796Ser	p.C796S	ENST00000273666	22/28	173	147	26	131	131	0	strelka-varscan-mutect	STXBP5L,missense_variant,p.Cys796Ser,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Cys772Ser,ENST00000471454,NM_001308330.1;STXBP5L,missense_variant,p.Cys796Ser,ENST00000492541,;STXBP5L,missense_variant,p.Cys772Ser,ENST00000472879,;STXBP5L,intron_variant,,ENST00000471262,;STXBP5L,intron_variant,,ENST00000497029,;	A	ENST00000273666	Transcript	missense_variant	2657/9496	2386/3561	796/1186	C/S	Tgc/Agc		1		1	STXBP5L	HGNC	HGNC:30757	protein_coding	YES	CCDS43137.1	ENSP00000273666	Q9Y2K9		UPI00001C1DEA	NM_014980.2	tolerated(0.28)		22/28																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	121378853	121378853	T	A	1	0	0	0	0	1	0	0	0	15741	1580	55	4		4	STXBP5L	3	121378853	Missense_Mutation	SNP	T	C3N-00580_TP	5292324	121378853	76916706	241	19701											
STXBP5L	0	.	GRCh38	chr3	121407600	121407600	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacggacatatcatgataaTgaggtacttgccttcttata	13	14	7	7	1	2	2	1	2	1	0	2	3	2	3	1	2	3	1	1	2	6	8	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.3017T>A	p.Met1006Lys	p.M1006K	ENST00000273666	24/28	249	206	43	229	229	0	strelka-varscan-mutect	STXBP5L,missense_variant,p.Met1006Lys,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Met982Lys,ENST00000471454,NM_001308330.1;STXBP5L,missense_variant,p.Met949Lys,ENST00000471262,;STXBP5L,missense_variant,p.Met1006Lys,ENST00000492541,;STXBP5L,missense_variant,p.Met982Lys,ENST00000472879,;STXBP5L,missense_variant,p.Met980Lys,ENST00000497029,;	A	ENST00000273666	Transcript	missense_variant	3288/9496	3017/3561	1006/1186	M/K	aTg/aAg		1		1	STXBP5L	HGNC	HGNC:30757	protein_coding	YES	CCDS43137.1	ENSP00000273666	Q9Y2K9		UPI00001C1DEA	NM_014980.2	deleterious(0.01)		24/28		hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Pfam_domain:PF08596,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		rs1247746178	.												A	3	1	62	121407600	121407600	T	A	1	0	0	0	0	1	0	0	0	15741	1478	51	4		4	STXBP5L	3	121407600	Missense_Mutation	SNP	T	C3N-00580_TP	28747	121407600	76887959	242	19702											
POLQ	0	.	GRCh38	chr3	121487737	121487737	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaggaggaatgagaccatTatcatcaactatattacttt	14	14	7	6	0	2	1	2	1	0	1	2	4	2	3	1	2	2	1	1	2	7	6	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.5194A>T	p.Asn1732Tyr	p.N1732Y	ENST00000264233	16/30	207	175	32	193	193	0	strelka-varscan-mutect	POLQ,missense_variant,p.Asn1867Tyr,ENST00000621776,;POLQ,missense_variant,p.Asn1732Tyr,ENST00000264233,NM_199420.3;	A	ENST00000264233	Transcript	missense_variant	5323/8775	5194/7773	1732/2590	N/Y	Aat/Tat		1		-1	POLQ	HGNC	HGNC:9186	protein_coding	YES	CCDS33833.1	ENSP00000264233	O75417		UPI0000D61B5F	NM_199420.3	deleterious(0)		16/30																			MODERATE	1	SNV	1			1										PASS		rs1264076375	.												A	3	1	62	121487737	121487737	T	A	1	0	0	0	0	1	0	0	0	12318	1754	61	4		4	POLQ	3	121487737	Missense_Mutation	SNP	T	C3N-00580_TP	80137	121487737	76807822	243	19703											
SEMA5B	0	.	GRCh38	chr3	122948647	122948647	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagacagccagggggcCtgcaagcaccatgataggcc	11	3	14	13	1	0	2	0	1	0	1	0	3	0	2	4	3	4	2	4	3	2	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.349G>T	p.Gly117Cys	p.G117C	ENST00000451055	3/23	177	146	31	156	156	0	strelka-varscan-mutect	SEMA5B,missense_variant,p.Gly63Cys,ENST00000616742,NM_001256346.1;SEMA5B,missense_variant,p.Gly63Cys,ENST00000357599,NM_001031702.3;SEMA5B,missense_variant,p.Gly117Cys,ENST00000451055,NM_001256347.1;SEMA5B,missense_variant,p.Gly5Cys,ENST00000195173,NM_001256348.1;SEMA5B,missense_variant,p.Gly63Cys,ENST00000393583,;SEMA5B,missense_variant,p.Gly63Cys,ENST00000421053,;SEMA5B,missense_variant,p.Gly63Cys,ENST00000449546,;SEMA5B,non_coding_transcript_exon_variant,,ENST00000465147,;SEMA5B,non_coding_transcript_exon_variant,,ENST00000477001,;SEMA5B,missense_variant,p.Gly63Cys,ENST00000475244,;	A	ENST00000451055	Transcript	missense_variant	360/4579	349/3618	117/1205	G/C	Ggc/Tgc		1		-1	SEMA5B	HGNC	HGNC:10737	protein_coding	YES	CCDS58848.1	ENSP00000389588	Q9P283		UPI0002065011	NM_001256347.1	deleterious_low_confidence(0.02)		3/23		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	62	122948647	122948647	C	A	1	0	0	0	0	1	0	0	0	14314	681	24	2		2	SEMA5B	3	122948647	Missense_Mutation	SNP	C	C3N-00580_TP	1460910	122948647	75346912	244	19704											
SLC41A3	0	.	GRCh38	chr3	126015539	126015539	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgcctttgtactgctgttTagaaacggttttgctcaaga	9	15	9	8	1	1	2	1	0	0	2	1	2	1	2	1	1	5	5	1	1	4	6	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.925A>T	p.Lys309Ter	p.K309*	ENST00000315891	8/12	238	207	31	237	237	0	strelka-varscan-mutect	SLC41A3,stop_gained,p.Lys283Ter,ENST00000383598,NM_001008487.1;SLC41A3,stop_gained,p.Lys309Ter,ENST00000360370,NM_017836.3;SLC41A3,stop_gained,p.Lys309Ter,ENST00000315891,NM_001008485.1;SLC41A3,stop_gained,p.Lys273Ter,ENST00000346785,NM_001008486.1;SLC41A3,stop_gained,p.Lys192Ter,ENST00000508835,NM_001164475.1;SLC41A3,downstream_gene_variant,,ENST00000514677,;SLC41A3,non_coding_transcript_exon_variant,,ENST00000512557,;SLC41A3,non_coding_transcript_exon_variant,,ENST00000506102,;SLC41A3,downstream_gene_variant,,ENST00000507008,;	A	ENST00000315891	Transcript	stop_gained	1164/1797	925/1524	309/507	K/*	Aaa/Taa		1		-1	SLC41A3	HGNC	HGNC:31046	protein_coding	YES	CCDS33843.1	ENSP00000326070	Q96GZ6		UPI000013D523	NM_001008485.1			8/12		hmmpanther:PTHR16228:SF22,hmmpanther:PTHR16228,Gene3D:2zy9B03,Superfamily_domains:0054748																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	62	126015539	126015539	T	A	1	0	0	0	0	0	1	0	0	14909	1763	61	4		4	SLC41A3	3	126015539	Nonsense_Mutation	SNP	T	C3N-00580_TP	3066892	126015539	72280020	245	19705											
PLXND1	0	.	GRCh38	chr3	129605966	129605967	+	Frame_Shift_Ins	INS	-	-	G																															gcggtggtcctccaggctgcINSggttgcgcgggaagaaggag																								novel		C3N-00580_TP	C3N-00580_NB	-	-																c.673dupC	p.Arg225ProfsTer207	p.R225Pfs*207	ENST00000324093	1/36	319	278	41	397	397	0	sindel-varindel-pindel	PLXND1,frameshift_variant,p.Arg225ProfsTer207,ENST00000324093,NM_015103.2;	G	ENST00000324093	Transcript	frameshift_variant	852-853/7094	673-674/5778	225/1925	R/PX	cgc/cCgc		1		-1	PLXND1	HGNC	HGNC:9107	protein_coding	YES	CCDS33854.1	ENSP00000317128	Q9Y4D7		UPI00003671AD	NM_015103.2			1/36		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF7,SMART_domains:SM00630,Superfamily_domains:SSF101912																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	62	129605966	129605966	-	G	1	0	1	1	0	0	0	0	0	12233	768	27	0		0	PLXND1	3	129605966	Frame_Shift_Ins	INS	-	C3N-00580_TP	3590427	129605966	68689593	246	19706											
EPHB1	0	.	GRCh38	chr3	135166076	135166076	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctctatcgtctgtagcaGgtaggtcctccactctcact	7	13	7	14	1	3	0	1	0	3	0	8	0	5	0	2	2	1	3	2	2	3	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1694G>C	p.Arg565Thr	p.R565T	ENST00000398015	8/16	180	146	34	142	142	0	strelka-varscan-mutect	EPHB1,missense_variant,p.Arg565Thr,ENST00000398015,NM_004441.4;EPHB1,missense_variant,p.Arg126Thr,ENST00000493838,;	C	ENST00000398015	Transcript	missense_variant,splice_region_variant	2064/4672	1694/2955	565/984	R/T	aGg/aCg		1		1	EPHB1	HGNC	HGNC:3392	protein_coding	YES	CCDS46921.1	ENSP00000381097	P54762		UPI000012A07E	NM_004441.4	deleterious(0.01)		8/16		Pfam_domain:PF14575,PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	135166076	135166076	G	C	1	0	0	0	0	1	0	0	0	5021	1014	35	4		4	EPHB1	3	135166076	Missense_Mutation	SNP	G	C3N-00580_TP	5560110	135166076	63129483	247	19707											
PRR23C	0	.	GRCh38	chr3	139044593	139044593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagggcgcaaggcaggCgctggggctgcagggccggc	6	2	19	14	3	0	0	0	0	0	0	0	0	0	0	3	7	1	5	3	7	1	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.28G>A	p.Ala10Thr	p.A10T	ENST00000413199	1/1	137	115	22	160	160	0	strelka-varscan-mutect	PRR23C,missense_variant,p.Ala10Thr,ENST00000413199,NM_001134657.1;MRPS22,intron_variant,,ENST00000495075,;	T	ENST00000413199	Transcript	missense_variant	300/2791	28/789	10/262	A/T	Gcc/Acc		1		-1	PRR23C	HGNC	HGNC:37173	protein_coding	YES	CCDS46924.1	ENSP00000396648	Q6ZRP0		UPI00001C0F48	NM_001134657.1	deleterious(0.02)		1/1		hmmpanther:PTHR31813:SF6,hmmpanther:PTHR31813,Pfam_domain:PF10630																	MODERATE		SNV				1										PASS		.	.												T	3	4	62	139044593	139044593	C	T	1	0	0	0	0	1	0	0	0	12731	768	27	1		1	PRR23C	3	139044593	Missense_Mutation	SNP	C	C3N-00580_TP	3878517	139044593	59250966	248	19708											
XRN1	0	.	GRCh38	chr3	142375852	142375852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgaatacatccattcaCttccaactttcttagtatat	13	15	3	10	0	2	2	1	1	1	1	4	2	4	2	2	0	2	1	2	0	6	7	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2924G>T	p.Ser975Ile	p.S975I	ENST00000264951	25/42	182	163	19	184	184	0	strelka-varscan-mutect	XRN1,missense_variant,p.Ser975Ile,ENST00000264951,NM_019001.4;XRN1,missense_variant,p.Ser441Ile,ENST00000498077,;XRN1,missense_variant,p.Ser975Ile,ENST00000392981,NM_001282857.1;XRN1,non_coding_transcript_exon_variant,,ENST00000472625,;XRN1,downstream_gene_variant,,ENST00000472697,;	A	ENST00000264951	Transcript	missense_variant	3042/10143	2924/5121	975/1706	S/I	aGt/aTt		1		-1	XRN1	HGNC	HGNC:30654	protein_coding	YES	CCDS3123.1	ENSP00000264951	Q8IZH2		UPI0000074113	NM_019001.4	tolerated(0.06)		25/42		hmmpanther:PTHR12341:SF7,hmmpanther:PTHR12341																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	142375852	142375852	C	A	1	0	0	0	0	1	0	0	0	18017	565	20	2		2	XRN1	3	142375852	Missense_Mutation	SNP	C	C3N-00580_TP	3331259	142375852	55919707	249	19709											
ATR	0	.	GRCh38	chr3	142562712	142562712	+	Frame_Shift_Del	DEL	C	C	-																															agcagaacacaacctatctgCcaaagtaagagttcttgcct																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.690delG	p.Trp230CysfsTer3	p.W230Cfs*3	ENST00000350721	4/47	164	81	83	181	181	0	sindel-varindel-pindel	ATR,frameshift_variant,p.Trp230CysfsTer3,ENST00000350721,NM_001184.3;ATR,upstream_gene_variant,,ENST00000515149,;ATR,intron_variant,,ENST00000507148,;ATR,upstream_gene_variant,,ENST00000515863,;	-	ENST00000350721	Transcript	frameshift_variant	812/8249	690/7935	230/2644	W/X	tgG/tg		1		-1	ATR	HGNC	HGNC:882	protein_coding	YES	CCDS3124.1	ENSP00000343741	Q13535		UPI0000031A31	NM_001184.3			4/47		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF69																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	62	142562712	142562712	C	-	1	0	1	0	1	0	0	0	0	1356	740	26	0		0	ATR	3	142562712	Frame_Shift_Del	DEL	C	C3N-00580_TP	186860	142562712	55732847	250	19710											
CHST2	0	.	GRCh38	chr3	143121971	143121971	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaaggagggcgtgggcggCcccgcagactaccacgctct	9	4	15	13	4	1	2	0	0	1	2	1	3	1	3	3	4	1	2	3	4	3	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1155C>T	p.=	p.G385G	ENST00000309575	2/2	75	67	8	86	86	0	strelka-varscan-mutect	CHST2,synonymous_variant,p.=,ENST00000309575,NM_004267.4;RP11-80H8.4,upstream_gene_variant,,ENST00000483262,;	T	ENST00000309575	Transcript	synonymous_variant	2539/4582	1155/1593	385/530	G	ggC/ggT		1		1	CHST2	HGNC	HGNC:1970	protein_coding	YES	CCDS3129.1	ENSP00000307911	Q9Y4C5	V9HVX9	UPI0000073CBC	NM_004267.4			2/2		Gene3D:3.40.50.300,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF3,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	143121971	143121971	C	T	1	0	0	0	0	0	0	0	1	3164	726	26	3		3	CHST2	3	143121971	Silent	SNP	C	C3N-00580_TP	559259	143121971	55173588	251	19711											
AGTR1	0	.	GRCh38	chr3	148742079	148742079	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagataatgtaagctcatcCaccaagaagcctgcaccatg	14	8	7	12	0	2	2	2	0	0	2	3	2	3	2	4	0	3	3	4	0	4	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1044C>A	p.=	p.S348S	ENST00000497524	2/2	370	189	181	364	364	0	strelka-varscan-mutect	AGTR1,synonymous_variant,p.=,ENST00000497524,NM_009585.3;AGTR1,synonymous_variant,p.=,ENST00000349243,NM_000685.4;AGTR1,synonymous_variant,p.=,ENST00000404754,;AGTR1,synonymous_variant,p.=,ENST00000402260,NM_032049.3;AGTR1,synonymous_variant,p.=,ENST00000418473,NM_004835.4,NM_031850.3;AGTR1,synonymous_variant,p.=,ENST00000474935,;AGTR1,synonymous_variant,p.=,ENST00000475347,;AGTR1,synonymous_variant,p.=,ENST00000461609,;	A	ENST00000497524	Transcript	synonymous_variant	1435/2359	1044/1080	348/359	S	tcC/tcA		1		1	AGTR1	HGNC	HGNC:336	protein_coding	YES	CCDS3137.1	ENSP00000419422	P30556	Q53YY0	UPI0000039D66	NM_009585.3			2/2		hmmpanther:PTHR24228:SF30,hmmpanther:PTHR24228,Prints_domain:PR00635																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	148742079	148742079	C	A	1	0	0	0	0	0	0	0	1	480	581	21	2		2	AGTR1	3	148742079	Silent	SNP	C	C3N-00580_TP	5620108	148742079	49553480	252	19712											
LEKR1	0	.	GRCh38	chr3	157011446	157011446	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcacatcagaaaagcatCgagcagctgcaagaaaccct	16	7	7	11	1	2	2	2	0	0	2	3	3	2	2	1	0	5	4	1	0	4	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.231C>A	p.=	p.I77I	ENST00000470811	11/14	249	224	25	255	255	0	strelka-varscan-mutect	LEKR1,synonymous_variant,p.=,ENST00000470811,;LEKR1,synonymous_variant,p.=,ENST00000356539,NM_001004316.2;	A	ENST00000470811	Transcript	synonymous_variant	1566/2881	231/1167	77/388	I	atC/atA		1		1	LEKR1	HGNC	HGNC:33765	protein_coding			ENSP00000418214	Q6ZMV7		UPI0000425F3D				11/14		hmmpanther:PTHR34251																	LOW	1	SNV	2			1										PASS		rs949576025	.												A	2	1	62	157011446	157011446	C	A	1	0	0	0	0	0	0	0	1	8625	874	31	1		1	LEKR1	3	157011446	Silent	SNP	C	C3N-00580_TP	8269367	157011446	41284113	253	19713											
NMD3	0	.	GRCh38	chr3	161222017	161222017	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaaggcatacagaacgatgGagtatatggcagaatccacc	15	8	10	8	1	0	2	0	0	0	2	1	4	1	3	2	3	2	3	2	3	6	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.4G>T	p.Glu2Ter	p.E2*	ENST00000460469	1/15	208	172	36	217	217	0	strelka-varscan-mutect	NMD3,stop_gained,p.Glu2Ter,ENST00000460469,;NMD3,stop_gained,p.Glu2Ter,ENST00000351193,NM_015938.3;NMD3,stop_gained,p.Glu2Ter,ENST00000472947,NM_001320227.1;NMD3,stop_gained,p.Glu2Ter,ENST00000463518,;NMD3,stop_gained,p.Glu2Ter,ENST00000493066,;NMD3,stop_gained,p.Glu2Ter,ENST00000476237,;NMD3,stop_gained,p.Glu2Ter,ENST00000468606,;NMD3,stop_gained,p.Glu2Ter,ENST00000460503,;NMD3,upstream_gene_variant,,ENST00000478160,;NMD3,non_coding_transcript_exon_variant,,ENST00000473909,;RP11-479I16.2,downstream_gene_variant,,ENST00000603703,;	T	ENST00000460469	Transcript	stop_gained	459/3061	4/1512	2/503	E/*	Gag/Tag		1		1	NMD3	HGNC	HGNC:24250	protein_coding	YES	CCDS3194.1	ENSP00000419004	Q96D46		UPI0000035FBE				1/15		hmmpanther:PTHR12746																	HIGH	1	SNV	1			1										PASS		rs1451861872	.												T	4	4	62	161222017	161222017	G	T	1	0	0	0	0	0	1	0	0	10526	1175	41	2		2	NMD3	3	161222017	Nonsense_Mutation	SNP	G	C3N-00580_TP	4210571	161222017	37073542	254	19714											
SI	0	.	GRCh38	chr3	165063512	165063512	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaatacacataaagaaTgtttgatggccgtataaatt	15	14	6	6	1	2	2	1	1	1	1	2	2	2	2	1	1	1	2	1	1	8	7	rs571049231		C3N-00580_TP	C3N-00580_NB	T	T																c.837A>T	p.=	p.T279T	ENST00000264382	8/48	103	85	18	80	80	0	strelka-varscan-mutect	SI,synonymous_variant,p.=,ENST00000264382,NM_001041.3;	A	ENST00000264382	Transcript	synonymous_variant	900/6011	837/5484	279/1827	T	acA/acT	rs571049231	1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3			8/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66,Superfamily_domains:SSF74650																	LOW	1	SNV	1			1										PASS		rs571049231	.												A	2	1	62	165063512	165063512	T	A	1	0	0	0	0	0	0	0	1	14561	1451	51	4		4	SI	3	165063512	Silent	SNP	T	C3N-00580_TP	3841495	165063512	33232047	255	19715											
SLITRK3	0	.	GRCh38	chr3	165188121	165188121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatttgggcactgttccatAgagacagtccacaaatccca	13	10	7	11	0	0	1	0	0	0	1	3	2	3	1	3	1	0	2	3	1	3	4	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.2710T>C	p.Tyr904His	p.Y904H	ENST00000475390	2/2	94	43	51	102	102	0	strelka-varscan-mutect	SLITRK3,missense_variant,p.Tyr904His,ENST00000475390,NM_001318811.1,NM_001318810.1;SLITRK3,missense_variant,p.Tyr904His,ENST00000241274,NM_014926.2;SLITRK3,downstream_gene_variant,,ENST00000497724,;	G	ENST00000475390	Transcript	missense_variant	3154/4555	2710/2934	904/977	Y/H	Tat/Cat		1		-1	SLITRK3	HGNC	HGNC:23501	protein_coding	YES	CCDS3197.1	ENSP00000420091	O94933		UPI000004F259	NM_001318811.1,NM_001318810.1	deleterious(0)		2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	165188121	165188121	A	G	1	0	0	0	0	1	0	0	0	15035	420	15	5		5	SLITRK3	3	165188121	Missense_Mutation	SNP	A	C3N-00580_TP	124609	165188121	33107438	256	19716											
BCHE	0	.	GRCh38	chr3	165773470	165773470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattgttccagcgatggaatCctgctttccactcccattct	8	14	6	13	1	1	0	0	0	1	0	5	2	5	1	4	1	2	2	4	1	2	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1721G>T	p.Gly574Val	p.G574V	ENST00000264381	4/4	344	302	42	323	322	1	strelka-varscan-mutect	BCHE,missense_variant,p.Gly574Val,ENST00000264381,NM_000055.2;BCHE,missense_variant,p.Gly104Val,ENST00000479451,;BCHE,downstream_gene_variant,,ENST00000488954,;BCHE,3_prime_UTR_variant,,ENST00000482958,;BCHE,3_prime_UTR_variant,,ENST00000497011,;	A	ENST00000264381	Transcript	missense_variant	1888/2454	1721/1809	574/602	G/V	gGa/gTa		1		-1	BCHE	HGNC	HGNC:983	protein_coding	YES	CCDS3198.1	ENSP00000264381	P06276		UPI0000127866	NM_000055.2	tolerated(0.05)		4/4		PD415333,Pfam_domain:PF08674,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF215																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	165773470	165773470	C	A	1	0	0	0	0	1	0	0	0	1505	855	30	2		2	BCHE	3	165773470	Missense_Mutation	SNP	C	C3N-00580_TP	585349	165773470	32522089	257	19717											
PRKCI	0	.	GRCh38	chr3	170259993	170259993	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgtacagtatcatctcAgttggagttagaagaagcct	11	11	10	9	1	2	2	2	0	1	2	3	3	2	3	2	1	2	4	2	1	5	4	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.248A>T	p.Gln83Leu	p.Q83L	ENST00000295797	3/18	124	61	63	166	166	0	strelka-varscan-mutect	PRKCI,missense_variant,p.Gln83Leu,ENST00000295797,NM_002740.5;	T	ENST00000295797	Transcript	missense_variant	553/4950	248/1791	83/596	Q/L	cAg/cTg		1		1	PRKCI	HGNC	HGNC:9404	protein_coding	YES	CCDS3212.2	ENSP00000295797	P41743		UPI000020A798	NM_002740.5	tolerated(0.06)		3/18		Gene3D:3.10.20.240,Pfam_domain:PF00564,PIRSF_domain:PIRSF000554,PROSITE_profiles:PS51745,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF214,SMART_domains:SM00666,Superfamily_domains:SSF54277																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	170259993	170259993	A	T	1	0	0	0	0	1	0	0	0	12647	188	7	4		4	PRKCI	3	170259993	Missense_Mutation	SNP	A	C3N-00580_TP	4486523	170259993	28035566	258	19718											
NAALADL2	0	.	GRCh38	chr3	175096976	175096976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatcagaacctagggcattCagagactatagacctcaatc	15	8	8	10	0	3	3	3	0	0	3	4	5	3	3	2	1	1	1	2	1	6	4	rs758174571		C3N-00580_TP	C3N-00580_NB	C	C																c.230C>T	p.Ser77Leu	p.S77L	ENST00000454872	2/14	242	168	74	189	189	0	strelka-varscan-mutect	NAALADL2,missense_variant,p.Ser77Leu,ENST00000454872,NM_207015.2;NAALADL2,missense_variant,p.Ser60Leu,ENST00000434257,;NAALADL2-AS3,intron_variant,,ENST00000453180,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000473253,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000485853,;NAALADL2-AS3,intron_variant,,ENST00000436929,;	T	ENST00000454872	Transcript	missense_variant	358/9865	230/2388	77/795	S/L	tCa/tTa	rs758174571	1		1	NAALADL2	HGNC	HGNC:23219	protein_coding	YES	CCDS46960.1	ENSP00000404705	Q58DX5		UPI0000161608	NM_207015.2	deleterious(0.01)		2/14		hmmpanther:PTHR10404:SF32,hmmpanther:PTHR10404																	MODERATE	1	SNV	1			1										PASS		rs758174571	.												T	3	4	62	175096976	175096976	C	T	1	0	0	0	0	1	0	0	0	10134	838	29	3		3	NAALADL2	3	175096976	Missense_Mutation	SNP	C	C3N-00580_TP	4836983	175096976	23198583	259	19719											
FXR1	0	.	GRCh38	chr3	180968231	180968231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtcgtggtggaccacgtgGtggcaaatcctccatcagtt	8	10	13	10	2	1	0	1	0	0	0	4	1	3	1	3	5	0	2	3	5	1	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1379G>T	p.Gly460Val	p.G460V	ENST00000357559	14/17	306	245	61	229	229	0	strelka-varscan-mutect	FXR1,missense_variant,p.Gly460Val,ENST00000357559,NM_005087.3;FXR1,missense_variant,p.Gly375Val,ENST00000305586,NM_001013439.2;FXR1,missense_variant,p.Gly460Val,ENST00000445140,NM_001013438.2;FXR1,missense_variant,p.Gly447Val,ENST00000480918,;FXR1,missense_variant,p.Gly375Val,ENST00000468861,;FXR1,missense_variant,p.Gly411Val,ENST00000491062,;FXR1,missense_variant,p.Gly61Val,ENST00000482125,;FXR1,non_coding_transcript_exon_variant,,ENST00000475315,;FXR1,non_coding_transcript_exon_variant,,ENST00000472339,;FXR1,non_coding_transcript_exon_variant,,ENST00000476672,;FXR1,non_coding_transcript_exon_variant,,ENST00000498658,;FXR1,upstream_gene_variant,,ENST00000481383,;	T	ENST00000357559	Transcript	missense_variant	1763/8711	1379/1866	460/621	G/V	gGt/gTt		1		1	FXR1	HGNC	HGNC:4023	protein_coding	YES	CCDS3238.1	ENSP00000350170	P51114		UPI000013EA6E	NM_005087.3	deleterious_low_confidence(0.03)		14/17		Low_complexity_(Seg):seg,hmmpanther:PTHR10603:SF6,hmmpanther:PTHR10603,Pfam_domain:PF16096																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	180968231	180968231	G	T	1	0	0	0	0	1	0	0	0	5986	1261	44	2		2	FXR1	3	180968231	Missense_Mutation	SNP	G	C3N-00580_TP	5871255	180968231	17327328	260	19720											
SOX2	0	.	GRCh38	chr3	181713008	181713008	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaccagctcgcagacctaCatgaacggctcgcccaccta	11	6	8	16	3	0	3	0	2	0	1	2	3	0	3	4	1	3	3	4	1	3	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.648C>A	p.Tyr216Ter	p.Y216*	ENST00000325404	1/1	689	606	83	869	867	2	strelka-varscan-mutect	SOX2,stop_gained,p.Tyr216Ter,ENST00000325404,NM_003106.3;SOX2-OT,intron_variant,,ENST00000498731,;SOX2-OT,intron_variant,,ENST00000492337,;SOX2-OT,intron_variant,,ENST00000493521,;SOX2-OT,intron_variant,,ENST00000466034,;SOX2-OT,intron_variant,,ENST00000630553,;SOX2-OT,intron_variant,,ENST00000477928,;SOX2-OT,intron_variant,,ENST00000491282,;SOX2-OT,intron_variant,,ENST00000627530,;SOX2-OT,intron_variant,,ENST00000597828,;SOX2-OT,intron_variant,,ENST00000595084,;SOX2-OT,intron_variant,,ENST00000599082,;SOX2-OT,intron_variant,,ENST00000628496,;SOX2-OT,intron_variant,,ENST00000600386,;SOX2-OT,intron_variant,,ENST00000627501,;SOX2-OT,intron_variant,,ENST00000600778,;SOX2-OT,intron_variant,,ENST00000629112,;SOX2-OT,intron_variant,,ENST00000593549,;SOX2-OT,intron_variant,,ENST00000630887,;SOX2-OT,intron_variant,,ENST00000628343,;SOX2-OT,intron_variant,,ENST00000629781,;SOX2-OT,intron_variant,,ENST00000627738,;SOX2-OT,intron_variant,,ENST00000629830,;SOX2-OT,intron_variant,,ENST00000600801,;SOX2-OT,intron_variant,,ENST00000626619,;SOX2-OT,intron_variant,,ENST00000597651,;SOX2-OT,intron_variant,,ENST00000626299,;SOX2-OT,intron_variant,,ENST00000628810,;SOX2-OT,intron_variant,,ENST00000596250,;SOX2-OT,intron_variant,,ENST00000476964,;SOX2-OT,intron_variant,,ENST00000595287,;SOX2-OT,intron_variant,,ENST00000629552,;SOX2-OT,intron_variant,,ENST00000469278,;SOX2-OT,intron_variant,,ENST00000498226,;SOX2-OT,intron_variant,,ENST00000598474,;SOX2-OT,intron_variant,,ENST00000593330,;SOX2-OT,downstream_gene_variant,,ENST00000476125,;SOX2-OT,downstream_gene_variant,,ENST00000631025,;SOX2-OT,downstream_gene_variant,,ENST00000600962,;SOX2OT_exon4,upstream_gene_variant,,ENST00000610449,;	A	ENST00000325404	Transcript	stop_gained	1085/2513	648/954	216/317	Y/*	taC/taA		1		1	SOX2	HGNC	HGNC:11195	protein_coding	YES	CCDS3239.1	ENSP00000323588	P48431	A0A0U3FYV6	UPI000003F545	NM_003106.3			1/1		hmmpanther:PTHR10270:SF231,hmmpanther:PTHR10270																	HIGH		SNV				1										PASS		rs1020803542	.												A	4	1	62	181713008	181713008	C	A	1	0	0	0	0	0	1	0	0	15275	489	17	2		2	SOX2	3	181713008	Nonsense_Mutation	SNP	C	C3N-00580_TP	744777	181713008	16582551	261	19721											
ATP11B	0	.	GRCh38	chr3	182872456	182872456	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaggactgccttgcagcAgcgggaagagaaattggcag	12	5	15	9	1	0	1	0	0	0	1	0	4	0	3	2	3	5	3	2	3	2	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1967A>T	p.Gln656Leu	p.Q656L	ENST00000323116	18/30	222	200	22	126	126	0	strelka-varscan-mutect	ATP11B,missense_variant,p.Gln656Leu,ENST00000323116,NM_014616.2;ATP11B,missense_variant,p.Gln457Leu,ENST00000498086,;ATP11B,non_coding_transcript_exon_variant,,ENST00000490303,;ATP11B,upstream_gene_variant,,ENST00000466758,;	T	ENST00000323116	Transcript	missense_variant	2227/7325	1967/3534	656/1177	Q/L	cAg/cTg		1		1	ATP11B	HGNC	HGNC:13553	protein_coding	YES	CCDS33896.1	ENSP00000321195	Q9Y2G3		UPI000004124E	NM_014616.2	deleterious(0.01)		18/30		Gene3D:3.40.1110.10,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF57,Superfamily_domains:SSF56784,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01652																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	62	182872456	182872456	A	T	1	0	0	0	0	1	0	0	0	1272	188	7	4		4	ATP11B	3	182872456	Missense_Mutation	SNP	A	C3N-00580_TP	1159448	182872456	15423103	262	19722											
KLHL24	0	.	GRCh38	chr3	183651231	183651231	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaagcaagacggtaccAcatacttgggaatgaaatga	16	7	11	7	1	0	4	0	3	0	1	0	5	0	5	1	2	3	3	1	2	6	3			C3N-00580_TP	C3N-00580_NB	A	A																c.875A>G	p.His292Arg	p.H292R	ENST00000454652	4/9	178	158	20	110	110	0	strelka-varscan-mutect	KLHL24,missense_variant,p.His292Arg,ENST00000454652,NM_017644.3;KLHL24,missense_variant,p.His292Arg,ENST00000242810,;KLHL24,missense_variant,p.His292Arg,ENST00000476808,;KLHL24,downstream_gene_variant,,ENST00000493074,;KLHL24,downstream_gene_variant,,ENST00000468001,;KLHL24,downstream_gene_variant,,ENST00000454495,;KLHL24,downstream_gene_variant,,ENST00000482138,;KLHL24,downstream_gene_variant,,ENST00000468101,;KLHL24,downstream_gene_variant,,ENST00000437402,;KLHL24,downstream_gene_variant,,ENST00000427201,;KLHL24,downstream_gene_variant,,ENST00000473045,;KLHL24,intron_variant,,ENST00000475827,;	G	ENST00000454652	Transcript	missense_variant	1261/7380	875/1803	292/600	H/R	cAc/cGc	COSM402400	1		1	KLHL24	HGNC	HGNC:25947	protein_coding	YES	CCDS3246.1	ENSP00000395012	Q6TFL4		UPI000020A86F	NM_017644.3	deleterious(0.02)		4/9		Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF257											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	62	183651231	183651231	A	G	1	0	0	0	0	1	0	0	0	8243	159	6	5		5	KLHL24	3	183651231	Missense_Mutation	SNP	A	C3N-00580_TP	778775	183651231	14644328	263	19723											
AHSG	0	.	GRCh38	chr3	186620628	186620628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggtgccaatgaagcaGtccccacacccgtggtggac	11	5	12	13	1	0	2	0	1	0	1	1	3	1	3	4	3	2	1	4	3	3	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.802G>T	p.Val268Phe	p.V268F	ENST00000411641	7/7	129	69	60	95	95	0	strelka-varscan-mutect	AHSG,missense_variant,p.Val268Phe,ENST00000411641,NM_001622.2;AHSG,missense_variant,p.Val269Phe,ENST00000273784,;RP11-573D15.8,intron_variant,,ENST00000630178,;RP11-573D15.8,intron_variant,,ENST00000628505,;RP11-573D15.8,intron_variant,,ENST00000625386,;AHSG,downstream_gene_variant,,ENST00000478441,;	T	ENST00000411641	Transcript	missense_variant	1021/1711	802/1104	268/367	V/F	Gtc/Ttc		1		1	AHSG	HGNC	HGNC:349	protein_coding	YES	CCDS3278.1	ENSP00000393887	P02765		UPI000013D9D0	NM_001622.2	tolerated(0.06)		7/7		hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF6,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1199583206	.												T	3	4	62	186620628	186620628	G	T	1	0	0	0	0	1	0	0	0	497	1029	36	2		2	AHSG	3	186620628	Missense_Mutation	SNP	G	C3N-00580_TP	2969397	186620628	11674931	264	19724											
IL1RAP	0	.	GRCh38	chr3	190645731	190645731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatatttatgtatcctatGcaaggaatgcggaagaagaa	16	11	10	4	1	0	3	0	1	0	2	1	5	1	5	1	2	2	2	1	2	9	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1234G>A	p.Ala412Thr	p.A412T	ENST00000317757	11/12	148	128	20	143	143	0	strelka-varscan-mutect	IL1RAP,missense_variant,p.Ala412Thr,ENST00000317757,NM_001167931.1;IL1RAP,missense_variant,p.Ala412Thr,ENST00000412504,;IL1RAP,missense_variant,p.Ala412Thr,ENST00000447382,NM_002182.3;IL1RAP,missense_variant,p.Ala412Thr,ENST00000072516,NM_001167929.1;IL1RAP,missense_variant,p.Ala412Thr,ENST00000443369,;IL1RAP,missense_variant,p.Ala412Thr,ENST00000439062,NM_001167928.1;RN7SKP296,downstream_gene_variant,,ENST00000411185,;IL1RAP,3_prime_UTR_variant,,ENST00000413869,;IL1RAP,3_prime_UTR_variant,,ENST00000342550,;	A	ENST00000317757	Transcript	missense_variant	1440/5413	1234/2064	412/687	A/T	Gca/Aca		1		1	IL1RAP	HGNC	HGNC:5995	protein_coding	YES	CCDS54696.1	ENSP00000314807	Q9NPH3		UPI000020A9C1	NM_001167931.1	deleterious(0)		11/12		PROSITE_profiles:PS50104,hmmpanther:PTHR11890:SF20,hmmpanther:PTHR11890,Pfam_domain:PF01582,Gene3D:3.40.50.10140,SMART_domains:SM00255,Superfamily_domains:SSF52200,Prints_domain:PR01537																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	190645731	190645731	G	A	1	0	0	0	0	1	0	0	0	7563	1319	46	3		3	IL1RAP	3	190645731	Missense_Mutation	SNP	G	C3N-00580_TP	4025103	190645731	7649828	265	19725											
SMCO1	0	.	GRCh38	chr3	196509662	196509662	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctaacgcttggagtttgtGgtctactctgtaggataaca	9	15	10	7	1	3	0	0	0	3	0	3	2	3	2	0	3	3	3	0	3	4	7	rs9869292		C3N-00580_TP	C3N-00580_NB	G	G																c.58C>G	p.His20Asp	p.H20D	ENST00000397537	2/3	119	103	16	95	95	0	strelka-varscan	SMCO1,missense_variant,p.His20Asp,ENST00000397537,NM_001077657.1;SMCO1,3_prime_UTR_variant,,ENST00000452776,NM_001320473.1;	C	ENST00000397537	Transcript	missense_variant	215/1812	58/645	20/214	H/D	Cac/Gac	rs9869292	1		-1	SMCO1	HGNC	HGNC:27407	protein_coding	YES	CCDS43192.1	ENSP00000380671	Q147U7		UPI000020AF14	NM_001077657.1	tolerated(0.22)		2/3		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15080,hmmpanther:PTHR35979																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	196509662	196509662	G	C	1	0	0	0	0	1	0	0	0	15082	1348	47	4		4	SMCO1	3	196509662	Missense_Mutation	SNP	G	C3N-00580_TP	5863931	196509662	1785897	266	19726											
FGFR3	0	.	GRCh38	chr4	1804449	1804449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgacgctctgccgcctgCgcagcccccccaagaaaggc	7	5	11	18	3	1	2	0	1	1	1	1	2	1	2	5	1	3	2	5	1	2	0	rs370064407		C3N-00580_TP	C3N-00580_NB	C	C																c.1201C>T	p.Arg401Cys	p.R401C	ENST00000340107	9/18	71	64	7	116	116	0	strelka-varscan-mutect	FGFR3,missense_variant,p.Arg401Cys,ENST00000340107,NM_001163213.1;FGFR3,missense_variant,p.Arg399Cys,ENST00000440486,NM_000142.4;FGFR3,missense_variant,p.Arg399Cys,ENST00000481110,;FGFR3,missense_variant,p.Arg399Cys,ENST00000260795,;FGFR3,3_prime_UTR_variant,,ENST00000613647,;FGFR3,intron_variant,,ENST00000412135,NM_022965.3;FGFR3,intron_variant,,ENST00000352904,;FGFR3,downstream_gene_variant,,ENST00000507588,;FGFR3,downstream_gene_variant,,ENST00000474521,;FGFR3,upstream_gene_variant,,ENST00000469068,;	T	ENST00000340107	Transcript	missense_variant	1457/4293	1201/2427	401/808	R/C	Cgc/Tgc	rs370064407,COSM296687	1		1	FGFR3	HGNC	HGNC:3690	protein_coding	YES	CCDS54706.1	ENSP00000339824	P22607		UPI000002A9AC	NM_001163213.1	tolerated(0.07)		9/18		Gene3D:3.30.200.20,PIRSF_domain:PIRSF000628,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF353											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs370064407	.												T	3	4	62	1804449	1804449	C	T	1	0	0	0	0	1	0	0	0	5731	768	27	1		1	FGFR3	4	1804449	Missense_Mutation	SNP	C	C3N-00580_TP		1804449	188410106	267	19727											
CFAP99	0	.	GRCh38	chr4	2449735	2449735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagacagtcaagaggtacaaCcgccgaaaggccgaggtgag	14	3	15	9	3	1	3	1	1	0	2	1	6	1	3	3	3	2	1	3	3	4	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.708C>A	p.Asn236Lys	p.N236K	ENST00000616117	6/15	231	170	61	246	246	0	strelka-varscan-mutect	CFAP99,missense_variant,p.Asn236Lys,ENST00000635017,;CFAP99,missense_variant,p.Asn236Lys,ENST00000616117,NM_001193282.2;CFAP99,upstream_gene_variant,,ENST00000506607,;CFAP99,non_coding_transcript_exon_variant,,ENST00000511731,;CFAP99,non_coding_transcript_exon_variant,,ENST00000514556,;CFAP99,non_coding_transcript_exon_variant,,ENST00000515732,;	A	ENST00000616117	Transcript	missense_variant	708/1941	708/1941	236/646	N/K	aaC/aaA		1		1	CFAP99	HGNC	HGNC:51180	protein_coding	YES	CCDS75092.1	ENSP00000480601		A0A087WWY8	UPI00043788D2	NM_001193282.2	deleterious(0)		6/15		hmmpanther:PTHR34649,hmmpanther:PTHR34649:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	2449735	2449735	C	A	1	0	0	0	0	1	0	0	0	3036	506	18	2		2	CFAP99	4	2449735	Missense_Mutation	SNP	C	C3N-00580_TP	645286	2449735	187764820	268	19728											
STX18	0	.	GRCh38	chr4	4423554	4423554	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtgaatatctcttggagTctggaaatctcaaccactct	10	13	7	11	1	4	1	1	1	4	0	7	3	5	3	2	2	1	0	2	2	4	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.795A>T	p.Arg265Ser	p.R265S	ENST00000306200	9/11	205	165	40	351	351	0	strelka-varscan-mutect	STX18,missense_variant,p.Arg265Ser,ENST00000306200,NM_016930.2;STX18,missense_variant,p.Arg265Ser,ENST00000505286,;NSG1,downstream_gene_variant,,ENST00000421177,;NSG1,downstream_gene_variant,,ENST00000513555,;NSG1,downstream_gene_variant,,ENST00000397958,NM_001287763.1;NSG1,downstream_gene_variant,,ENST00000433139,NM_001287764.1,NM_001040101.1;NSG1,downstream_gene_variant,,ENST00000621129,NM_014392.4;STX18,downstream_gene_variant,,ENST00000507908,;STX18,non_coding_transcript_exon_variant,,ENST00000503861,;STX18,downstream_gene_variant,,ENST00000512195,;STX18,non_coding_transcript_exon_variant,,ENST00000503692,;STX18,non_coding_transcript_exon_variant,,ENST00000515687,;STX18,non_coding_transcript_exon_variant,,ENST00000510296,;STX18,non_coding_transcript_exon_variant,,ENST00000502267,;NSG1,downstream_gene_variant,,ENST00000513829,;	A	ENST00000306200	Transcript	missense_variant	859/2138	795/1008	265/335	R/S	agA/agT		1		-1	STX18	HGNC	HGNC:15942	protein_coding	YES	CCDS3377.1	ENSP00000305810	Q9P2W9		UPI0000049FDD	NM_016930.2	deleterious(0.01)		9/11		Gene3D:1.20.5.110,PROSITE_patterns:PS00914,hmmpanther:PTHR15959,hmmpanther:PTHR15959:SF0,Superfamily_domains:SSF58038																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	4423554	4423554	T	A	1	0	0	0	0	1	0	0	0	15725	1664	58	4		4	STX18	4	4423554	Missense_Mutation	SNP	T	C3N-00580_TP	1973819	4423554	185791001	269	19729											
EVC2	0	.	GRCh38	chr4	5689156	5689156	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcagaacgctttgctgttaCcttgcagaaacttcttgcta	9	15	7	10	1	2	2	1	0	1	2	2	2	2	2	1	0	6	5	1	0	4	7	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.706+1G>C		p.X236_splice	ENST00000344408		364	265	99	359	359	0	strelka-mutect	EVC2,splice_donor_variant,,ENST00000310917,NM_001166136.1;EVC2,splice_donor_variant,,ENST00000344408,NM_147127.4;EVC2,splice_donor_variant,,ENST00000475313,;EVC2,splice_donor_variant,,ENST00000509670,;	G	ENST00000344408	Transcript	splice_donor_variant	-/4390	706/3927	236/1308				1		-1	EVC2	HGNC	HGNC:19747	protein_coding	YES	CCDS3382.2	ENSP00000342144	Q86UK5		UPI00001910B5	NM_147127.4				5/21																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	62	5689156	5689156	C	G	1	0	0	0	0	0	0	1	0	5153	521	18	4		4	EVC2	4	5689156	Splice_Site	SNP	C	C3N-00580_TP	1265602	5689156	184525399	270	19730											
CPZ	0	.	GRCh38	chr4	8619302	8619302	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agactgctgcccccaggtatCcacattgtcattgcccaagc	9	9	8	15	0	1	1	1	0	0	1	2	1	2	1	4	1	4	2	4	1	2	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1644C>A	p.=	p.I548I	ENST00000360986	11/11	229	188	41	393	393	0	strelka-varscan-mutect	CPZ,synonymous_variant,p.=,ENST00000382480,NM_001014448.2;CPZ,synonymous_variant,p.=,ENST00000360986,NM_001014447.2;CPZ,synonymous_variant,p.=,ENST00000315782,NM_003652.3;GPR78,3_prime_UTR_variant,,ENST00000514302,;CPZ,3_prime_UTR_variant,,ENST00000515606,;GPR78,non_coding_transcript_exon_variant,,ENST00000513120,;CPZ,non_coding_transcript_exon_variant,,ENST00000513486,;	A	ENST00000360986	Transcript	synonymous_variant	1818/2267	1644/1959	548/652	I	atC/atA		1		1	CPZ	HGNC	HGNC:2333	protein_coding	YES	CCDS33953.1	ENSP00000354255	Q66K79		UPI000020BCC5	NM_001014447.2			11/11		Gene3D:2.60.40.1120,Pfam_domain:PF13620,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF55,SMART_domains:SM00631,Superfamily_domains:SSF49464																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	8619302	8619302	C	A	1	0	0	0	0	0	0	0	1	3637	845	30	2		2	CPZ	4	8619302	Silent	SNP	C	C3N-00580_TP	2930146	8619302	181595253	271	19731											
WDR1	0	.	GRCh38	chr4	10088367	10088367	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtcttcccgtcatagaTgtatatcttccaagaaataa	13	12	5	11	1	3	2	1	0	2	2	5	2	5	2	3	0	0	1	3	0	6	6	rs367695543		C3N-00580_TP	C3N-00580_NB	T	T																c.643A>G	p.Ile215Val	p.I215V	ENST00000499869	7/15	507	409	98	560	560	0	strelka-varscan-mutect	WDR1,missense_variant,p.Ile215Val,ENST00000382452,;WDR1,missense_variant,p.Ile215Val,ENST00000499869,NM_017491.3;WDR1,missense_variant,p.Ile75Val,ENST00000382451,;WDR1,missense_variant,p.Ile75Val,ENST00000502702,NM_005112.4;WDR1,missense_variant,p.Ile219Val,ENST00000508079,;WDR1,non_coding_transcript_exon_variant,,ENST00000515743,;WDR1,non_coding_transcript_exon_variant,,ENST00000502962,;WDR1,non_coding_transcript_exon_variant,,ENST00000505543,;WDR1,non_coding_transcript_exon_variant,,ENST00000506246,;WDR1,non_coding_transcript_exon_variant,,ENST00000504739,;WDR1,non_coding_transcript_exon_variant,,ENST00000510848,;WDR1,non_coding_transcript_exon_variant,,ENST00000508949,;WDR1,non_coding_transcript_exon_variant,,ENST00000509695,;	C	ENST00000499869	Transcript	missense_variant	837/3054	643/1821	215/606	I/V	Atc/Gtc	rs367695543	1		-1	WDR1	HGNC	HGNC:12754	protein_coding	YES	CCDS54740.1	ENSP00000427687	O75083	V9HWG7	UPI0000138EDA	NM_017491.3	tolerated(0.45)		7/15		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19856,SMART_domains:SM00320,Superfamily_domains:SSF50974																	MODERATE	1	SNV	5			1										PASS		rs367695543	.												C	3	2	62	10088367	10088367	T	C	1	0	0	0	0	1	0	0	0	17834	1464	51	5		5	WDR1	4	10088367	Missense_Mutation	SNP	T	C3N-00580_TP	1469065	10088367	180126188	272	19732											
NKX3-2	0	.	GRCh38	chr4	13542289	13542289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacgcggccaggtctgcgcGctcgggcccggacaggtagc	5	4	17	15	7	1	0	0	0	1	0	2	2	1	1	2	5	2	2	2	5	1	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.706C>G	p.Arg236Gly	p.R236G	ENST00000382438	2/2	195	121	74	169	169	0	strelka-varscan-mutect	NKX3-2,missense_variant,p.Arg236Gly,ENST00000382438,NM_001189.3;LINC01096,downstream_gene_variant,,ENST00000501050,;LINC01096,downstream_gene_variant,,ENST00000503938,;	C	ENST00000382438	Transcript	missense_variant	1342/2801	706/1002	236/333	R/G	Cgc/Ggc		1		-1	NKX3-2	HGNC	HGNC:951	protein_coding	YES	CCDS3410.1	ENSP00000371875	P78367		UPI00001301F5	NM_001189.3	deleterious(0)		2/2		PROSITE_profiles:PS50071,hmmpanther:PTHR24340:SF34,hmmpanther:PTHR24340,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	13542289	13542289	G	C	1	0	0	0	0	1	0	0	0	10493	1087	38	4		4	NKX3-2	4	13542289	Missense_Mutation	SNP	G	C3N-00580_TP	3453922	13542289	176672266	273	19733											
BOD1L1	0	.	GRCh38	chr4	13602633	13602633	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgctttaattgtctgctTtaaattgggctctgcattta	7	20	8	6	0	2	0	0	0	2	0	2	0	2	0	0	1	3	5	0	1	4	9	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.4267A>T	p.Lys1423Ter	p.K1423*	ENST00000040738	10/26	331	215	116	290	290	0	strelka-varscan-mutect	BOD1L1,stop_gained,p.Lys1423Ter,ENST00000040738,NM_148894.2;	A	ENST00000040738	Transcript	stop_gained	4403/10565	4267/9156	1423/3051	K/*	Aag/Tag		1		-1	BOD1L1	HGNC	HGNC:31792	protein_coding	YES	CCDS3411.2	ENSP00000040738	Q8NFC6		UPI000066D9E3	NM_148894.2			10/26		hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	62	13602633	13602633	T	A	1	0	0	0	0	0	1	0	0	1639	1850	64	4		4	BOD1L1	4	13602633	Nonsense_Mutation	SNP	T	C3N-00580_TP	60344	13602633	176611922	274	19734											
PROM1	0	.	GRCh38	chr4	15985821	15985821	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttattgttctcccatacttcTtagtttcctggaaagaaaca	11	16	5	9	0	2	1	0	0	2	1	4	2	3	2	2	1	2	2	2	1	5	7	rs113820099		C3N-00580_TP	C3N-00580_NB	T	T																c.2219A>T	p.Lys740Met	p.K740M	ENST00000510224	22/28	103	77	26	169	169	0	strelka-varscan-mutect	PROM1,missense_variant,p.Lys731Met,ENST00000505450,NM_001145848.1;PROM1,missense_variant,p.Lys731Met,ENST00000508167,NM_001145847.1;PROM1,missense_variant,p.Lys740Met,ENST00000510224,;PROM1,missense_variant,p.Lys740Met,ENST00000447510,NM_006017.2;PROM1,missense_variant,p.Lys740Met,ENST00000540805,NM_001145849.1,NM_001145851.1;PROM1,missense_variant,p.Lys740Met,ENST00000539194,NM_001145850.1,NM_001145852.1;PROM1,upstream_gene_variant,,ENST00000513946,;PROM1,non_coding_transcript_exon_variant,,ENST00000511270,;PROM1,upstream_gene_variant,,ENST00000503884,;	A	ENST00000510224	Transcript	missense_variant	2468/4006	2219/2598	740/865	K/M	aAg/aTg	rs113820099	1		-1	PROM1	HGNC	HGNC:9454	protein_coding	YES	CCDS47029.1	ENSP00000426809	O43490		UPI000004ECD6		deleterious(0.04)		22/28		hmmpanther:PTHR22730,hmmpanther:PTHR22730:SF3,Pfam_domain:PF05478																	MODERATE	1	SNV	5			1										PASS		rs113820099	.												A	3	1	62	15985821	15985821	T	A	1	0	0	0	0	1	0	0	0	12687	1609	56	4		4	PROM1	4	15985821	Missense_Mutation	SNP	T	C3N-00580_TP	2383188	15985821	174228734	275	19735											
SLC34A2	0	.	GRCh38	chr4	25662611	25662614	+	Splice_Site	DEL	AAGT	AAGT	-																															aaaagcaaagagaccaacaaAagtaagtgtcgctcgtttgt																								novel		C3N-00580_TP	C3N-00580_NB	AAGT	AAGT																c.112+3_112+6delAAGT		p.X38_splice	ENST00000382051	2/13	744	680	64	728	728	0	sindel-varindel-pindel	SLC34A2,splice_donor_variant,,ENST00000382051,NM_006424.2;SLC34A2,splice_donor_variant,,ENST00000503434,NM_001177999.1;SLC34A2,splice_donor_variant,,ENST00000504570,NM_001177998.1;SLC34A2,splice_donor_variant,,ENST00000507530,;SLC34A2,splice_donor_variant,,ENST00000513204,;SLC34A2,upstream_gene_variant,,ENST00000510033,;	-	ENST00000382051	Transcript	splice_donor_variant,coding_sequence_variant	161-?/4122	111-?/2073	37-?/690				1		1	SLC34A2	HGNC	HGNC:11020	protein_coding	YES	CCDS3435.1	ENSP00000371483	O95436		UPI000013DF24	NM_006424.2			2/13	2/12																		HIGH	1	deletion	1	4		1										PASS		.	.												-	8	5	62	25662611	25662611	AAGT	-	1	0	1	0	1	0	0	1	0	14838	28	1	0		0	SLC34A2	4	25662611	Splice_Site	DEL	AAGT	C3N-00580_TP	9676790	25662611	164551944	276	19736											
PCDH7	0	.	GRCh38	chr4	30722436	30722436	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagccgacttggacgtgggGgtcaacgggcagatcgaata	10	6	16	9	4	1	1	1	0	0	1	2	4	1	2	1	4	2	2	1	4	3	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1014G>T	p.=	p.G338G	ENST00000543491	1/1	177	96	81	172	172	0	strelka-varscan-mutect	PCDH7,synonymous_variant,p.=,ENST00000511884,NM_032457.3,NM_001173523.1;PCDH7,synonymous_variant,p.=,ENST00000361762,NM_002589.2;PCDH7,synonymous_variant,p.=,ENST00000543491,NM_032456.2;PCDH7,upstream_gene_variant,,ENST00000621961,;PCDH7,upstream_gene_variant,,ENST00000509759,;PCDH7,upstream_gene_variant,,ENST00000507864,;	T	ENST00000543491	Transcript	synonymous_variant	1584/4457	1014/3219	338/1072	G	ggG/ggT		1		1	PCDH7	HGNC	HGNC:8659	protein_coding	YES	CCDS75116.1	ENSP00000441802	O60245		UPI00001615DB	NM_032456.2			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF321,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV				1										PASS		.	.												T	2	4	62	30722436	30722436	G	T	1	0	0	0	0	0	0	0	1	11603	1219	43	2		2	PCDH7	4	30722436	Silent	SNP	G	C3N-00580_TP	5059825	30722436	159492119	277	19737											
C4orf19	0	.	GRCh38	chr4	37590980	37590980	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgctactgcaggagaaGatttggatgagactgattag	13	10	13	5	0	0	4	0	2	0	3	0	7	0	5	0	2	4	3	0	2	4	3			C3N-00580_TP	C3N-00580_NB	G	G																c.925G>T	p.Asp309Tyr	p.D309Y	ENST00000284437	3/3	66	56	10	72	71	1	strelka-varscan-mutect	C4orf19,missense_variant,p.Asp309Tyr,ENST00000284437,NM_018302.2;C4orf19,missense_variant,p.Asp309Tyr,ENST00000381980,NM_001104629.1;RELL1,3_prime_UTR_variant,,ENST00000314117,NM_001085399.1;C4orf19,intron_variant,,ENST00000508175,;RP11-36B15.1,upstream_gene_variant,,ENST00000503034,;	T	ENST00000284437	Transcript	missense_variant	1103/1949	925/945	309/314	D/Y	Gat/Tat	COSM5487186	1		1	C4orf19	HGNC	HGNC:25618	protein_coding	YES	CCDS3442.1	ENSP00000284437	Q8IY42	A0A024R9R1	UPI00000742D7	NM_018302.2	deleterious(0)		3/3		Pfam_domain:PF15770,hmmpanther:PTHR16106,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	62	37590980	37590980	G	T	1	0	0	0	0	1	0	0	0	2079	942	33	2		2	C4orf19	4	37590980	Missense_Mutation	SNP	G	C3N-00580_TP	6868544	37590980	152623575	278	19738											
PDS5A	0	.	GRCh38	chr4	39879798	39879798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcttcatcatctgctgtcCcctctattgacttattcatc	6	17	3	15	0	6	1	3	1	3	0	8	1	7	1	3	0	1	1	3	0	2	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1922G>T	p.Gly641Val	p.G641V	ENST00000303538	18/33	305	206	99	261	261	0	strelka-varscan-mutect	PDS5A,missense_variant,p.Gly641Val,ENST00000303538,NM_001100399.1;	A	ENST00000303538	Transcript	missense_variant	2462/7176	1922/4014	641/1337	G/V	gGg/gTg		1		-1	PDS5A	HGNC	HGNC:29088	protein_coding	YES	CCDS47045.1	ENSP00000303427	Q29RF7	G1UI16	UPI00006C6A7E	NM_001100399.1	deleterious(0)		18/33		hmmpanther:PTHR12663:SF2,hmmpanther:PTHR12663																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	39879798	39879798	C	A	1	0	0	0	0	1	0	0	0	11779	623	22	2		2	PDS5A	4	39879798	Missense_Mutation	SNP	C	C3N-00580_TP	2288818	39879798	150334757	279	19739											
SCFD2	0	.	GRCh38	chr4	53145336	53145336	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgttagacactcacccgTaattttttgcagcaaaggtg	10	14	8	9	1	1	1	1	0	0	1	1	1	1	1	1	1	2	4	1	1	3	6	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1558A>T	p.Thr520Ser	p.T520S	ENST00000401642	5/9	200	167	33	103	103	0	strelka-varscan-mutect	SCFD2,missense_variant,p.Thr520Ser,ENST00000401642,NM_152540.3;SCFD2,missense_variant,p.Thr520Ser,ENST00000388940,;	A	ENST00000401642	Transcript	missense_variant	1692/3176	1558/2055	520/684	T/S	Acg/Tcg		1		-1	SCFD2	HGNC	HGNC:30676	protein_coding	YES	CCDS33984.1	ENSP00000384182	Q8WU76		UPI000006FB05	NM_152540.3	tolerated(0.18)		5/9		Pfam_domain:PF00995,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF29,Superfamily_domains:SSF56815																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	53145336	53145336	T	A	1	0	0	0	0	1	0	0	0	14156	1652	57	4		4	SCFD2	4	53145336	Missense_Mutation	SNP	T	C3N-00580_TP	13265538	53145336	137069219	280	19740											
KIT	0	.	GRCh38	chr4	54731936	54731936	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgagttggccctagacttaGaagacttgctgagcttttct	9	13	10	9	1	1	4	0	1	1	3	1	5	1	4	1	1	2	3	1	1	3	6	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2299G>C	p.Glu767Gln	p.E767Q	ENST00000288135	16/21	709	516	193	405	405	0	strelka-varscan-mutect	KIT,missense_variant,p.Glu767Gln,ENST00000288135,NM_000222.2;KIT,missense_variant,p.Glu763Gln,ENST00000412167,NM_001093772.1;KIT,non_coding_transcript_exon_variant,,ENST00000512959,;	C	ENST00000288135	Transcript	missense_variant	2396/5186	2299/2931	767/976	E/Q	Gaa/Caa		1		1	KIT	HGNC	HGNC:6342	protein_coding	YES	CCDS3496.1	ENSP00000288135	P10721	A0A024RDA0	UPI000003F17D	NM_000222.2	deleterious(0.04)		16/21		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500951,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF46,Low_complexity_(Seg):seg,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	54731936	54731936	G	C	1	0	0	0	0	1	0	0	0	8193	943	33	4		4	KIT	4	54731936	Missense_Mutation	SNP	G	C3N-00580_TP	1586600	54731936	135482619	281	19741											
SRD5A3	0	.	GRCh38	chr4	55364073	55364073	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgccttctgaattgtaGgaggggagctggcactgtct	6	13	14	8	0	2	1	0	1	2	0	2	3	2	3	1	4	2	4	1	4	2	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.365-1G>A		p.X122_splice	ENST00000264228		533	317	216	276	276	0	strelka-varscan-mutect	SRD5A3,splice_acceptor_variant,,ENST00000264228,NM_024592.4;SRD5A3,intron_variant,,ENST00000505210,;SRD5A3-AS1,non_coding_transcript_exon_variant,,ENST00000433175,;SRD5A3-AS1,downstream_gene_variant,,ENST00000510637,;SRD5A3-AS1,downstream_gene_variant,,ENST00000595734,;SRD5A3-AS1,downstream_gene_variant,,ENST00000596289,;SRD5A3-AS1,downstream_gene_variant,,ENST00000609573,;SRD5A3-AS1,downstream_gene_variant,,ENST00000609051,;SRD5A3-AS1,downstream_gene_variant,,ENST00000596312,;SRD5A3-AS1,downstream_gene_variant,,ENST00000598906,;SRD5A3-AS1,downstream_gene_variant,,ENST00000608086,;SRD5A3-AS1,downstream_gene_variant,,ENST00000608265,;SRD5A3-AS1,downstream_gene_variant,,ENST00000609580,;SRD5A3-AS1,downstream_gene_variant,,ENST00000609487,;SRD5A3-AS1,downstream_gene_variant,,ENST00000608558,;SRD5A3-AS1,downstream_gene_variant,,ENST00000595103,;SRD5A3-AS1,downstream_gene_variant,,ENST00000619912,;SRD5A3-AS1,downstream_gene_variant,,ENST00000609700,;SRD5A3-AS1,downstream_gene_variant,,ENST00000609500,;SRD5A3-AS1,downstream_gene_variant,,ENST00000613794,;SRD5A3,splice_acceptor_variant,,ENST00000514398,;SRD5A3-AS1,downstream_gene_variant,,ENST00000610396,;SRD5A3-AS1,downstream_gene_variant,,ENST00000619685,;	A	ENST00000264228	Transcript	splice_acceptor_variant	-/4190	365/957	122/318				1		1	SRD5A3	HGNC	HGNC:25812	protein_coding	YES	CCDS3498.1	ENSP00000264228	Q9H8P0		UPI0000043F70	NM_024592.4				2/4																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	62	55364073	55364073	G	A	1	0	0	0	0	0	0	1	0	15497	1014	35	3		3	SRD5A3	4	55364073	Splice_Site	SNP	G	C3N-00580_TP	632137	55364073	134850482	282	19742											
ADGRL3	0	.	GRCh38	chr4	61732816	61732816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatttgtttgagtccgacCaccaatctggggcgtggtgc	8	11	12	10	2	1	1	0	1	1	0	2	2	2	1	3	3	2	1	3	3	2	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.457C>A	p.His153Asn	p.H153N	ENST00000514591	7/25	270	151	119	124	124	0	strelka-varscan-mutect	ADGRL3,missense_variant,p.His153Asn,ENST00000512091,NM_001322246.1;ADGRL3,missense_variant,p.His153Asn,ENST00000514591,NM_015236.4;ADGRL3,missense_variant,p.His221Asn,ENST00000509896,;ADGRL3,missense_variant,p.His221Asn,ENST00000511324,;ADGRL3,missense_variant,p.His221Asn,ENST00000508693,;ADGRL3,missense_variant,p.His221Asn,ENST00000507164,;ADGRL3,missense_variant,p.His221Asn,ENST00000506720,;ADGRL3,missense_variant,p.His221Asn,ENST00000506746,;ADGRL3,missense_variant,p.His221Asn,ENST00000507625,;ADGRL3,missense_variant,p.His153Asn,ENST00000506700,;ADGRL3,missense_variant,p.His153Asn,ENST00000504896,;ADGRL3,missense_variant,p.His153Asn,ENST00000514157,;ADGRL3,missense_variant,p.His153Asn,ENST00000508946,;ADGRL3,missense_variant,p.His153Asn,ENST00000514996,;	A	ENST00000514591	Transcript	missense_variant	786/6297	457/4410	153/1469	H/N	Cac/Aac		1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4	deleterious(0.02)		7/25		PROSITE_profiles:PS51132,hmmpanther:PTHR12011:SF60,hmmpanther:PTHR12011,Pfam_domain:PF02191,SMART_domains:SM00284																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	61732816	61732816	C	A	1	0	0	0	0	1	0	0	0	377	594	21	2		2	ADGRL3	4	61732816	Missense_Mutation	SNP	C	C3N-00580_TP	6368743	61732816	128481739	283	19743											
ADGRL3	0	.	GRCh38	chr4	62037776	62037776	+	Frame_Shift_Del	DEL	G	G	-																															tgcgaacacattgctgtagtGgcaaaagtacagagagttcc																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.3434delG	p.Gly1145AlafsTer51	p.G1145Afs*51	ENST00000514591	23/25	431	268	163	293	293	0	sindel-varindel-pindel	ADGRL3,frameshift_variant,p.Gly1145AlafsTer51,ENST00000512091,NM_001322246.1;ADGRL3,frameshift_variant,p.Gly1145AlafsTer51,ENST00000514591,NM_015236.4;ADGRL3,frameshift_variant,p.Gly1213AlafsTer51,ENST00000509896,;ADGRL3,frameshift_variant,p.Gly1204AlafsTer51,ENST00000511324,;ADGRL3,frameshift_variant,p.Gly1213AlafsTer51,ENST00000508693,;ADGRL3,frameshift_variant,p.Gly1204AlafsTer51,ENST00000507164,;ADGRL3,frameshift_variant,p.Gly1213AlafsTer51,ENST00000506720,;ADGRL3,frameshift_variant,p.Gly1204AlafsTer51,ENST00000506746,;ADGRL3,frameshift_variant,p.Gly1204AlafsTer51,ENST00000507625,;ADGRL3,frameshift_variant,p.Gly1136AlafsTer51,ENST00000506700,;ADGRL3,frameshift_variant,p.Gly1145AlafsTer51,ENST00000504896,;ADGRL3,frameshift_variant,p.Gly1136AlafsTer51,ENST00000514157,;ADGRL3,frameshift_variant,p.Gly1145AlafsTer51,ENST00000508946,;ADGRL3,frameshift_variant,p.Gly1136AlafsTer51,ENST00000514996,;ADGRL3,frameshift_variant,p.Gly594AlafsTer51,ENST00000502815,;	-	ENST00000514591	Transcript	frameshift_variant	3762/6297	3433/4410	1145/1469	G/X	Ggc/gc		1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4			23/25		hmmpanther:PTHR12011:SF60,hmmpanther:PTHR12011,Pfam_domain:PF02354,Superfamily_domains:SSF81321																	HIGH	1	deletion	5	1		1										PASS		.	.												-	7	5	62	62037776	62037776	G	-	1	0	1	0	1	0	0	0	0	377	1348	47	0		0	ADGRL3	4	62037776	Frame_Shift_Del	DEL	G	C3N-00580_TP	304960	62037776	128176779	284	19744											
EPHA5	0	.	GRCh38	chr4	65643384	65643384	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccattttttggaaaagcaatCcatcccaggtcccccatgac	11	10	6	14	0	0	1	0	1	0	0	3	2	3	2	5	2	1	1	5	2	3	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.225G>T	p.Trp75Cys	p.W75C	ENST00000622150	2/18	440	291	149	301	299	2	strelka-varscan-mutect	EPHA5,missense_variant,p.Trp75Cys,ENST00000622150,NM_001281765.1;EPHA5,missense_variant,p.Trp75Cys,ENST00000613740,NM_001281766.1;EPHA5,missense_variant,p.Trp75Cys,ENST00000273854,NM_004439.6;EPHA5,missense_variant,p.Trp75Cys,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Trp75Cys,ENST00000432638,;EPHA5,missense_variant,p.Trp75Cys,ENST00000354839,NM_182472.3;	A	ENST00000622150	Transcript	missense_variant	978/8421	225/3117	75/1038	W/C	tgG/tgT		1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1	deleterious(0)		2/18		Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17,SMART_domains:SM00615,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	65643384	65643384	C	A	1	0	0	0	0	1	0	0	0	5017	856	30	2		2	EPHA5	4	65643384	Missense_Mutation	SNP	C	C3N-00580_TP	3605608	65643384	124571171	285	19745											
TMPRSS11E	0	.	GRCh38	chr4	68461862	68461862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaaagagtttgttgggaacCctgggttatcggcctcgtca	9	11	13	8	2	1	1	1	0	0	1	3	3	1	2	2	3	1	3	2	3	4	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.53C>A	p.Pro18His	p.P18H	ENST00000305363	2/10	202	103	99	222	221	1	strelka-varscan-mutect	TMPRSS11E,missense_variant,p.Pro18His,ENST00000305363,NM_014058.3;TMPRSS11E,missense_variant,p.Pro15His,ENST00000510647,;	A	ENST00000305363	Transcript	missense_variant	117/2136	53/1272	18/423	P/H	cCc/cAc		1		1	TMPRSS11E	HGNC	HGNC:24465	protein_coding	YES	CCDS33993.1	ENSP00000307519	Q9UL52		UPI00000389F7	NM_014058.3	deleterious(0)		2/10		hmmpanther:PTHR24256:SF101,hmmpanther:PTHR24256,PIRSF_domain:PIRSF037941																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	68461862	68461862	C	A	1	0	0	0	0	1	0	0	0	16718	623	22	2		2	TMPRSS11E	4	68461862	Missense_Mutation	SNP	C	C3N-00580_TP	2818478	68461862	121752693	286	19746											
NPFFR2	0	.	GRCh38	chr4	72128862	72128862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttaaacctggccataagtGatttactagttggcatattc	11	15	7	8	0	1	1	0	1	1	0	2	1	1	1	2	2	2	2	2	2	6	8	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.577G>A	p.Asp193Asn	p.D193N	ENST00000308744	2/4	156	67	89	145	145	0	strelka-varscan-mutect	NPFFR2,missense_variant,p.Asp193Asn,ENST00000308744,NM_004885.2;NPFFR2,missense_variant,p.Asp94Asn,ENST00000395999,NM_001144756.1;NPFFR2,missense_variant,p.Asp91Asn,ENST00000358749,NM_053036.2;NPFFR2,intron_variant,,ENST00000344413,;	A	ENST00000308744	Transcript	missense_variant	675/1922	577/1569	193/522	D/N	Gat/Aat		1		1	NPFFR2	HGNC	HGNC:4525	protein_coding	YES	CCDS3551.1	ENSP00000307822	Q9Y5X5		UPI000012FFBD	NM_004885.2	deleterious(0)		2/4		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF3,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	72128862	72128862	G	A	1	0	0	0	0	1	0	0	0	10626	1290	45	3		3	NPFFR2	4	72128862	Missense_Mutation	SNP	G	C3N-00580_TP	3667000	72128862	118085693	287	19747											
MMRN1	0	.	GRCh38	chr4	89936467	89936467	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctccacgaagttttaacAatgtgtcacaatgcttctac	12	13	5	11	1	3	0	1	0	2	0	4	1	3	0	1	0	3	2	1	0	5	4	rs773351612		C3N-00580_TP	C3N-00580_NB	A	A																c.2787A>T	p.=	p.T929T	ENST00000394980	7/9	147	113	34	178	178	0	strelka-varscan-mutect	MMRN1,synonymous_variant,p.=,ENST00000394980,;MMRN1,synonymous_variant,p.=,ENST00000264790,NM_007351.2;MMRN1,synonymous_variant,p.=,ENST00000508372,;	T	ENST00000394980	Transcript	synonymous_variant	3106/5217	2787/3687	929/1228	T	acA/acT	rs773351612,COSM588910	1		1	MMRN1	HGNC	HGNC:7178	protein_coding	YES	CCDS3635.1	ENSP00000378431	Q13201		UPI000013D570				7/9		hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3											0,1						LOW	1	SNV	5		0,1	1										PASS		rs773351612	.												T	2	4	62	89936467	89936467	A	T	1	0	0	0	0	0	0	0	1	9633	117	5	4		4	MMRN1	4	89936467	Silent	SNP	A	C3N-00580_TP	17807605	89936467	100278088	288	19748											
C4orf17	0	.	GRCh38	chr4	99529947	99529947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataccaaactatctggatCaggaaataaaagtaagtatc	18	9	7	7	0	2	0	1	0	1	0	3	2	2	2	1	2	2	3	1	2	8	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.535C>A	p.Gln179Lys	p.Q179K	ENST00000326581	5/9	90	66	24	83	83	0	strelka-varscan-mutect	C4orf17,missense_variant,p.Gln179Lys,ENST00000514652,;C4orf17,missense_variant,p.Gln179Lys,ENST00000326581,NM_032149.2;C4orf17,non_coding_transcript_exon_variant,,ENST00000503257,;C4orf17,missense_variant,p.Gln179Lys,ENST00000477187,;	A	ENST00000326581	Transcript	missense_variant	897/1636	535/1080	179/359	Q/K	Cag/Aag		1		1	C4orf17	HGNC	HGNC:25274	protein_coding	YES	CCDS3649.1	ENSP00000322582	Q53FE4		UPI0000141987	NM_032149.2	deleterious(0.01)		5/9		Pfam_domain:PF15256,hmmpanther:PTHR33772,hmmpanther:PTHR33772:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	99529947	99529947	C	A	1	0	0	0	0	1	0	0	0	2078	827	29	2		2	C4orf17	4	99529947	Missense_Mutation	SNP	C	C3N-00580_TP	9593480	99529947	90684608	289	19749											
MANBA	0	.	GRCh38	chr4	102690626	102690626	+	Frame_Shift_Del	DEL	C	C	-																															ttcacaaatagctcaacaatCcttttcccaggttgaagttc																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.819delG	p.Ile274LeufsTer6	p.I274Lfs*6	ENST00000226578	6/17	317	300	17	355	354	1	varindel-pindel	MANBA,frameshift_variant,p.Ile274LeufsTer6,ENST00000226578,NM_005908.3;MANBA,frameshift_variant,p.Ile217LeufsTer6,ENST00000505239,;MANBA,non_coding_transcript_exon_variant,,ENST00000514430,;	-	ENST00000226578	Transcript	frameshift_variant	919/2904	819/2640	273/879	R/X	agG/ag		1		-1	MANBA	HGNC	HGNC:6831	protein_coding	YES	CCDS3658.1	ENSP00000226578	O00462		UPI000013C8A2	NM_005908.3			6/17		Gene3D:2.60.40.320,hmmpanther:PTHR10066,hmmpanther:PTHR10066:SF65,Superfamily_domains:SSF49303																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	62	102690626	102690626	C	-	1	0	1	0	1	0	0	0	0	9140	854	30	0		0	MANBA	4	102690626	Frame_Shift_Del	DEL	C	C3N-00580_TP	3160679	102690626	87523929	290	19750											
ETNPPL	0	.	GRCh38	chr4	108746517	108746517	+	Frame_Shift_Del	DEL	T	T	-																															tcggcactgagaagcactcgTttttctttcatcctaatttg																								novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1185delA	p.Lys395AsnfsTer17	p.K395Nfs*17	ENST00000296486	11/13	68	56	12	78	78	0	sindel-varindel-pindel	ETNPPL,frameshift_variant,p.Lys395AsnfsTer17,ENST00000296486,NM_031279.3;ETNPPL,frameshift_variant,p.Lys389AsnfsTer17,ENST00000411864,NM_001146590.1;ETNPPL,frameshift_variant,p.Lys355AsnfsTer17,ENST00000510706,;ETNPPL,frameshift_variant,p.Lys337AsnfsTer17,ENST00000512646,NM_001146627.1;ETNPPL,downstream_gene_variant,,ENST00000505233,;ETNPPL,downstream_gene_variant,,ENST00000503912,;	-	ENST00000296486	Transcript	frameshift_variant	1340/2099	1185/1500	395/499	K/X	aaA/aa		1		-1	ETNPPL	HGNC	HGNC:14404	protein_coding	YES	CCDS3682.1	ENSP00000296486	Q8TBG4		UPI000004B638	NM_031279.3			11/13		hmmpanther:PTHR11986:SF63,hmmpanther:PTHR11986,Gene3D:3.90.1150.10,Pfam_domain:PF00202,Superfamily_domains:SSF53383																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	62	108746517	108746517	T	-	1	0	1	0	1	0	0	0	0	5138	1722	60	0		0	ETNPPL	4	108746517	Frame_Shift_Del	DEL	T	C3N-00580_TP	6055891	108746517	81468038	291	19751											
ANK2	0	.	GRCh38	chr4	113357127	113357127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagagcagaatctccacaaGcagattgccccagtgaaagc	14	6	9	12	0	1	4	0	1	1	3	2	4	1	4	3	0	4	2	3	0	4	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.8509G>T	p.Ala2837Ser	p.A2837S	ENST00000357077	38/46	480	319	161	463	463	0	strelka-varscan-mutect	ANK2,missense_variant,p.Ala2837Ser,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Ala2804Ser,ENST00000264366,;ANK2,missense_variant,p.Ala139Ser,ENST00000612754,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;	T	ENST00000357077	Transcript	missense_variant	8562/14196	8509/11874	2837/3957	A/S	Gca/Tca		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	tolerated_low_confidence(0.08)		38/46																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	113357127	113357127	G	T	1	0	0	0	0	1	0	0	0	721	971	34	2		2	ANK2	4	113357127	Missense_Mutation	SNP	G	C3N-00580_TP	4610610	113357127	76857428	292	19752											
TRPC3	0	.	GRCh38	chr4	121932292	121932292	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaactccttctctatgttGgccagcttggccagctcgtt	5	15	9	12	1	1	1	0	1	1	0	4	1	2	1	3	2	3	4	3	2	2	6	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.966C>A	p.=	p.A322A	ENST00000379645	2/12	128	97	31	104	104	0	strelka-varscan-mutect	TRPC3,synonymous_variant,p.=,ENST00000264811,NM_003305.2;TRPC3,synonymous_variant,p.=,ENST00000379645,NM_001130698.1;TRPC3,synonymous_variant,p.=,ENST00000513531,;TRPC3,downstream_gene_variant,,ENST00000502968,;TRPC3,synonymous_variant,p.=,ENST00000506449,;	T	ENST00000379645	Transcript	synonymous_variant	1040/3548	966/2766	322/921	A	gcC/gcA		1		-1	TRPC3	HGNC	HGNC:12335	protein_coding	YES	CCDS47130.1	ENSP00000368966	Q13507		UPI00004C6F61	NM_001130698.1			2/12		hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870,Pfam_domain:PF08344																	LOW	1	SNV	1			1										PASS		rs1485877040	.												T	2	4	62	121932292	121932292	G	T	1	0	0	0	0	0	0	0	1	17084	1335	47	2		2	TRPC3	4	121932292	Silent	SNP	G	C3N-00580_TP	8575165	121932292	68282263	293	19753											
IL2	0	.	GRCh38	chr4	122453719	122453719	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgccttacctttagttcCagaactattacgttgatatt	11	17	5	8	1	0	2	0	1	0	1	1	2	1	2	3	0	4	2	3	0	7	10	rs753489414		C3N-00580_TP	C3N-00580_NB	C	C																c.342G>C	p.=	p.L114L	ENST00000226730	3/4	87	66	21	126	126	0	strelka-varscan-mutect	IL2,synonymous_variant,p.=,ENST00000226730,NM_000586.3;IL2,non_coding_transcript_exon_variant,,ENST00000477645,;	G	ENST00000226730	Transcript	synonymous_variant	627/1029	342/462	114/153	L	ctG/ctC	rs753489414	1		-1	IL2	HGNC	HGNC:6001	protein_coding	YES	CCDS3726.1	ENSP00000226730	P60568	Q0GK43	UPI000002BE7B	NM_000586.3			3/4		Gene3D:1.20.1250.10,PD003649,Pfam_domain:PF00715,Prints_domain:PR00265,hmmpanther:PTHR11443,SMART_domains:SM00189,Superfamily_domains:SSF47266																	LOW	1	SNV	1			1										PASS		rs753489414	.												G	2	3	62	122453719	122453719	C	G	1	0	0	0	0	0	0	0	1	7569	581	21	4		4	IL2	4	122453719	Silent	SNP	C	C3N-00580_TP	521427	122453719	67760836	294	19754											
DCHS2	0	.	GRCh38	chr4	154489955	154489955	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccttccaaggacagagaGatgctcccgtctccaagacc	10	6	9	16	2	1	3	0	0	1	3	4	5	3	4	6	1	1	1	6	1	2	1	rs769774270		C3N-00580_TP	C3N-00580_NB	G	G																c.1401C>A	p.=	p.I467I	ENST00000339452	1/8	54	25	29	61	60	1	strelka-varscan-mutect	DCHS2,synonymous_variant,p.=,ENST00000339452,NM_001142552.1;DCHS2,non_coding_transcript_exon_variant,,ENST00000456341,;	T	ENST00000339452	Transcript	synonymous_variant	1762/5064	1401/4110	467/1369	I	atC/atA	rs769774270	1		-1	DCHS2	HGNC	HGNC:23111	protein_coding		CCDS47150.1	ENSP00000345062		A0A0A0MRC0	UPI00002372F1	NM_001142552.1			1/8		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,Low_complexity_(Seg):seg,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs769774270	.												T	2	4	62	154489955	154489955	G	T	1	0	0	0	0	0	0	0	1	4091	932	33	2		2	DCHS2	4	154489955	Silent	SNP	G	C3N-00580_TP	32036236	154489955	35724600	295	19755											
RBM46	0	.	GRCh38	chr4	154798013	154798013	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaagcccaattagccatCagaattcttaataattatga	17	11	6	7	0	2	3	1	1	1	2	2	4	2	3	2	0	2	0	2	0	8	5	rs750760222		C3N-00580_TP	C3N-00580_NB	C	C																c.354C>T	p.=	p.I118I	ENST00000281722	3/5	95	43	52	111	111	0	strelka-varscan-mutect	RBM46,synonymous_variant,p.=,ENST00000510397,NM_001277173.1;RBM46,synonymous_variant,p.=,ENST00000281722,NM_144979.4;RBM46,synonymous_variant,p.=,ENST00000514866,NM_001277171.1;RBM46,synonymous_variant,p.=,ENST00000512640,;	T	ENST00000281722	Transcript	synonymous_variant	589/2583	354/1602	118/533	I	atC/atT	rs750760222,COSM5278244	1		1	RBM46	HGNC	HGNC:28401	protein_coding	YES	CCDS3790.1	ENSP00000281722	Q8TBY0		UPI000007173F	NM_144979.4			3/5		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF272,hmmpanther:PTHR24012,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01648,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928											0,1						LOW	1	SNV	1		0,1	1										PASS		rs750760222	.												T	2	4	62	154798013	154798013	C	T	1	0	0	0	0	0	0	0	1	13306	816	29	3		3	RBM46	4	154798013	Silent	SNP	C	C3N-00580_TP	308058	154798013	35416542	296	19756											
TMEM144	0	.	GRCh38	chr4	158217368	158217368	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaccattggtttaggccttGgaatcttaatctggggatca	11	13	10	7	0	3	0	1	0	2	0	3	2	3	2	2	5	1	1	2	5	4	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.280G>T	p.Gly94Ter	p.G94*	ENST00000296529	5/13	136	94	42	131	131	0	strelka-varscan-mutect	TMEM144,stop_gained,p.Gly94Ter,ENST00000514558,;TMEM144,stop_gained,p.Gly94Ter,ENST00000296529,NM_018342.4;TMEM144,stop_gained,p.Gly94Ter,ENST00000508243,;TMEM144,stop_gained,p.Gly94Ter,ENST00000504569,;TMEM144,stop_gained,p.Gly94Ter,ENST00000503200,;TMEM144,downstream_gene_variant,,ENST00000509278,;TMEM144,downstream_gene_variant,,ENST00000505189,;TMEM144,downstream_gene_variant,,ENST00000512481,;TMEM144,downstream_gene_variant,,ENST00000502698,;TMEM144,downstream_gene_variant,,ENST00000505049,;TMEM144,downstream_gene_variant,,ENST00000511038,;TMEM144,downstream_gene_variant,,ENST00000514971,;TMEM144,stop_gained,p.Gly94Ter,ENST00000511532,;	T	ENST00000296529	Transcript	stop_gained	800/3442	280/1038	94/345	G/*	Gga/Tga		1		1	TMEM144	HGNC	HGNC:25633	protein_coding	YES	CCDS3799.1	ENSP00000296529	Q7Z5S9		UPI0000140BEC	NM_018342.4			5/13		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR16119:SF17,hmmpanther:PTHR16119,Pfam_domain:PF07857																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	62	158217368	158217368	G	T	1	0	0	0	0	0	1	0	0	16503	1349	47	2		2	TMEM144	4	158217368	Nonsense_Mutation	SNP	G	C3N-00580_TP	3419355	158217368	31997187	297	19757											
SH3RF1	0	.	GRCh38	chr4	169136489	169136489	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaggagtgccgctttttGgtgttcttcttggtgtcgga	4	16	15	6	2	2	1	0	1	2	0	3	3	2	3	1	4	1	2	1	4	1	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.897C>T	p.=	p.T299T	ENST00000284637	5/12	116	90	26	166	166	0	strelka-varscan-mutect	SH3RF1,synonymous_variant,p.=,ENST00000284637,NM_020870.3;SH3RF1,non_coding_transcript_exon_variant,,ENST00000508685,;SH3RF1,synonymous_variant,p.=,ENST00000511421,;	A	ENST00000284637	Transcript	synonymous_variant	1239/5272	897/2667	299/888	T	acC/acT		1		-1	SH3RF1	HGNC	HGNC:17650	protein_coding	YES	CCDS34099.1	ENSP00000284637	Q7Z6J0		UPI0000160033	NM_020870.3			5/12																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	169136489	169136489	G	A	1	0	0	0	0	0	0	0	1	14517	1335	47	3		3	SH3RF1	4	169136489	Silent	SNP	G	C3N-00580_TP	10919121	169136489	21078066	298	19758											
GALNTL6	0	.	GRCh38	chr4	171814610	171814610	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacagaagagatttctgcaGatgactttgttgttcacggt	12	13	10	6	1	2	4	1	1	1	3	2	5	2	4	0	1	2	3	0	1	2	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.30G>A	p.=	p.Q10Q	ENST00000506823	2/13	214	100	114	347	347	0	strelka-varscan-mutect	GALNTL6,synonymous_variant,p.=,ENST00000506823,NM_001034845.2;GALNTL6,synonymous_variant,p.=,ENST00000511251,;GALNTL6,non_coding_transcript_exon_variant,,ENST00000513061,;GALNTL6,non_coding_transcript_exon_variant,,ENST00000504379,;	A	ENST00000506823	Transcript	synonymous_variant	687/3922	30/1806	10/601	Q	caG/caA		1		1	GALNTL6	HGNC	HGNC:33844	protein_coding	YES	CCDS34104.1	ENSP00000423313	Q49A17	E5D8G0	UPI000058EB5C	NM_001034845.2			2/13		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF40																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	171814610	171814610	G	A	1	0	0	0	0	0	0	0	1	6093	933	33	3		3	GALNTL6	4	171814610	Silent	SNP	G	C3N-00580_TP	2678121	171814610	18399945	299	19759											
GALNTL6	0	.	GRCh38	chr4	172311749	172311749	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgccagatattcgtcatgCtaagtgagtatcagcatatc	11	13	8	9	1	3	2	2	1	1	1	5	2	3	2	1	0	3	3	1	0	4	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.383C>G	p.Ala128Gly	p.A128G	ENST00000506823	4/13	69	29	40	68	68	0	strelka-varscan-mutect	GALNTL6,missense_variant,p.Ala128Gly,ENST00000506823,NM_001034845.2;GALNTL6,missense_variant,p.Ala111Gly,ENST00000508122,;GALNTL6,non_coding_transcript_exon_variant,,ENST00000457021,;	G	ENST00000506823	Transcript	missense_variant	1040/3922	383/1806	128/601	A/G	gCt/gGt		1		1	GALNTL6	HGNC	HGNC:33844	protein_coding	YES	CCDS34104.1	ENSP00000423313	Q49A17	E5D8G0	UPI000058EB5C	NM_001034845.2	deleterious(0.03)		4/13		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF40,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	172311749	172311749	C	G	1	0	0	0	0	1	0	0	0	6093	811	28	4		4	GALNTL6	4	172311749	Missense_Mutation	SNP	C	C3N-00580_TP	497139	172311749	17902806	300	19760											
FBXO8	0	.	GRCh38	chr4	174262968	174262968	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggacttgtttacgatgaTtggtgttagaaatgttgctc	8	17	11	5	1	0	2	0	1	0	1	1	4	0	3	0	2	2	4	0	2	3	7			C3N-00580_TP	C3N-00580_NB	T	T																c.125A>G	p.Asn42Ser	p.N42S	ENST00000393674	2/6	437	195	242	416	416	0	strelka-varscan-mutect	FBXO8,missense_variant,p.Asn42Ser,ENST00000393674,NM_012180.2;FBXO8,missense_variant,p.Asn42Ser,ENST00000615392,;FBXO8,missense_variant,p.Asn42Ser,ENST00000503293,;FBXO8,missense_variant,p.Asn42Ser,ENST00000513696,;FBXO8,missense_variant,p.Asn42Ser,ENST00000515664,;	C	ENST00000393674	Transcript	missense_variant	988/2577	125/960	42/319	N/S	aAt/aGt	COSM1618601	1		-1	FBXO8	HGNC	HGNC:13587	protein_coding	YES	CCDS3820.1	ENSP00000377280	Q9NRD0	A0A0S2Z5D1	UPI000012A588	NM_012180.2	tolerated_low_confidence(0.5)		2/6													1						MODERATE	1	SNV	1		1	1										PASS		rs1365701819	.												C	3	2	62	174262968	174262968	T	C	1	0	0	0	0	1	0	0	0	5624	1493	52	5		5	FBXO8	4	174262968	Missense_Mutation	SNP	T	C3N-00580_TP	1951219	174262968	15951587	301	19761											
ADAM29	0	.	GRCh38	chr4	174976394	174976394	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacctcacatcttttcaCaactctaggattaagagggt	12	12	7	10	0	4	2	2	1	2	1	4	3	4	3	1	2	1	0	1	2	3	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.869C>A	p.Thr290Lys	p.T290K	ENST00000615367	6/6	45	20	25	57	57	0	strelka-varscan-mutect	ADAM29,missense_variant,p.Thr290Lys,ENST00000615367,NM_001278125.1;ADAM29,missense_variant,p.Thr290Lys,ENST00000359240,NM_014269.4,NM_001278126.1;ADAM29,missense_variant,p.Thr290Lys,ENST00000445694,NM_001130703.1;ADAM29,missense_variant,p.Thr290Lys,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Thr290Lys,ENST00000514159,NM_001130705.1;ADAM29,missense_variant,p.Thr290Lys,ENST00000618444,NM_001278127.1;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000505141,;ADAM29,downstream_gene_variant,,ENST00000502940,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	A	ENST00000615367	Transcript	missense_variant	1600/3386	869/2463	290/820	T/K	aCa/aAa		1		1	ADAM29	HGNC	HGNC:207	protein_coding	YES	CCDS3823.1	ENSP00000484862	Q9UKF5	A0A140VJD8	UPI000013E9DE	NM_001278125.1	deleterious(0)		6/6		PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF34,hmmpanther:PTHR11905,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	62	174976394	174976394	C	A	1	0	0	0	0	1	0	0	0	291	478	17	2		2	ADAM29	4	174976394	Missense_Mutation	SNP	C	C3N-00580_TP	713426	174976394	15238161	302	19762											
CENPU	0	.	GRCh38	chr4	184716456	184716456	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggcactaaggggtcCtgtctttttagaagtgacag	8	11	15	7	0	1	2	0	1	1	1	2	2	2	2	1	4	0	2	1	4	3	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.559G>T	p.Gly187Ter	p.G187*	ENST00000281453	6/13	288	130	158	421	421	0	strelka-varscan-mutect	CENPU,stop_gained,p.Gly187Ter,ENST00000281453,NM_024629.3;CENPU,stop_gained,p.Gly158Ter,ENST00000514781,;CENPU,upstream_gene_variant,,ENST00000506535,;CENPU,stop_gained,p.Gly187Ter,ENST00000510146,;	A	ENST00000281453	Transcript	stop_gained	630/1998	559/1257	187/418	G/*	Gga/Tga		1		-1	CENPU	HGNC	HGNC:21348	protein_coding	YES	CCDS3838.1	ENSP00000281453	Q71F23		UPI00001BFAF6	NM_024629.3			6/13		hmmpanther:PTHR32222:SF1,hmmpanther:PTHR32222,Pfam_domain:PF13097																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	62	184716456	184716456	C	A	1	0	0	0	0	0	1	0	0	2951	690	24	2		2	CENPU	4	184716456	Nonsense_Mutation	SNP	C	C3N-00580_TP	9740062	184716456	5498099	303	19763											
SORBS2	0	.	GRCh38	chr4	185623977	185623977	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgctgctgctcgctctcGtactgcagaatcctggactt	5	14	10	12	2	1	1	0	0	1	1	4	2	2	2	1	1	5	6	1	1	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1740C>A	p.Tyr580Ter	p.Y580*	ENST00000355634	16/24	340	137	203	307	307	0	strelka-varscan-mutect	SORBS2,stop_gained,p.Tyr480Ter,ENST00000284776,NM_021069.4;SORBS2,stop_gained,p.Tyr384Ter,ENST00000418609,NM_001145675.1,NM_001145674.1;SORBS2,stop_gained,p.Tyr580Ter,ENST00000355634,NM_001270771.1;SORBS2,intron_variant,,ENST00000448662,NM_001145672.1;SORBS2,intron_variant,,ENST00000437304,NM_001145673.1;SORBS2,intron_variant,,ENST00000449407,NM_001145670.1;SORBS2,intron_variant,,ENST00000393528,NM_003603.6;SORBS2,intron_variant,,ENST00000319471,NM_001145671.2;SORBS2,intron_variant,,ENST00000319454,;SORBS2,intron_variant,,ENST00000451974,;SORBS2,intron_variant,,ENST00000438278,;SORBS2,downstream_gene_variant,,ENST00000445625,;SORBS2,intron_variant,,ENST00000498125,;SORBS2,downstream_gene_variant,,ENST00000487836,;SORBS2,downstream_gene_variant,,ENST00000495932,;SORBS2,downstream_gene_variant,,ENST00000487184,;	T	ENST00000355634	Transcript	stop_gained	2454/4622	1740/3603	580/1200	Y/*	taC/taA		1		-1	SORBS2	HGNC	HGNC:24098	protein_coding	YES	CCDS59482.1	ENSP00000347852	O94875		UPI000198C7F0	NM_001270771.1			16/24																			HIGH	1	SNV	2			1										PASS		.	.												T	4	4	62	185623977	185623977	G	T	1	0	0	0	0	0	1	0	0	15250	1140	40	1		1	SORBS2	4	185623977	Nonsense_Mutation	SNP	G	C3N-00580_TP	907521	185623977	4590578	304	19764											
F11	0	.	GRCh38	chr4	186271664	186271664	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaggggacattactacGgtcttcacaccaagcgccaa	13	6	11	11	2	2	0	1	0	1	0	2	3	2	2	2	4	3	0	2	4	5	3	rs762996950		C3N-00580_TP	C3N-00580_NB	G	G																c.111G>C	p.=	p.T37T	ENST00000403665	3/15	559	483	76	574	574	0	strelka-varscan-mutect	F11,synonymous_variant,p.=,ENST00000403665,NM_000128.3;F11,synonymous_variant,p.=,ENST00000264692,;F11,synonymous_variant,p.=,ENST00000492972,;F11,upstream_gene_variant,,ENST00000452239,;F11,upstream_gene_variant,,ENST00000514715,;	C	ENST00000403665	Transcript	synonymous_variant	463/2396	111/1878	37/625	T	acG/acC	rs762996950	1		1	F11	HGNC	HGNC:3529	protein_coding	YES	CCDS3847.1	ENSP00000384957	P03951		UPI000000D8B7	NM_000128.3			3/15		PROSITE_profiles:PS50948,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF258,PROSITE_patterns:PS00495,Gene3D:3.50.4.10,Pfam_domain:PF00024,SMART_domains:SM00223																	LOW	1	SNV	1			1										PASS		rs762996950	.												C	2	2	62	186271664	186271664	G	C	1	0	0	0	0	0	0	0	1	5205	1103	39	4		4	F11	4	186271664	Silent	SNP	G	C3N-00580_TP	647687	186271664	3942891	305	19765											
FAT1	0	.	GRCh38	chr4	186708803	186708803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagagaactggggcggagttCctttatctttagcctgtagt	9	13	12	7	1	1	1	0	0	1	1	2	3	2	2	2	3	2	2	2	3	5	6	rs377127443		C3N-00580_TP	C3N-00580_NB	C	C																c.1025G>A	p.Gly342Glu	p.G342E	ENST00000441802	2/27	269	204	65	216	216	0	strelka-varscan-mutect	FAT1,missense_variant,p.Gly342Glu,ENST00000441802,NM_005245.3;FAT1,missense_variant,p.Gly342Glu,ENST00000614102,;FAT1,missense_variant,p.Gly342Glu,ENST00000509647,;	T	ENST00000441802	Transcript	missense_variant	1235/14786	1025/13767	342/4588	G/E	gGa/gAa	rs377127443	1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3	deleterious(0.02)		2/27		hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,SMART_domains:SM00112																	MODERATE	1	SNV	5			1										PASS		rs377127443	.												T	3	4	62	186708803	186708803	C	T	1	0	0	0	0	1	0	0	0	5549	855	30	3		3	FAT1	4	186708803	Missense_Mutation	SNP	C	C3N-00580_TP	437139	186708803	3505752	306	19766											
SDHA	0	.	GRCh38	chr5	225506	225506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaagggctccgactggctgGgggaccaggatgccatccac	8	6	15	12	1	0	1	0	1	0	0	2	4	2	3	4	5	1	2	4	5	1	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.400G>T	p.Gly134Trp	p.G134W	ENST00000264932	4/15	651	542	109	563	563	0	strelka-varscan-mutect	SDHA,missense_variant,p.Gly134Trp,ENST00000264932,NM_004168.3;SDHA,missense_variant,p.Gly134Trp,ENST00000504309,;SDHA,intron_variant,,ENST00000510361,NM_001294332.1;SDHA,intron_variant,,ENST00000617470,;SDHA,upstream_gene_variant,,ENST00000514233,;SDHA,3_prime_UTR_variant,,ENST00000509632,;SDHA,non_coding_transcript_exon_variant,,ENST00000505555,;SDHA,non_coding_transcript_exon_variant,,ENST00000504824,;SDHA,upstream_gene_variant,,ENST00000514027,;SDHA,downstream_gene_variant,,ENST00000502379,;SDHA,upstream_gene_variant,,ENST00000509420,;	T	ENST00000264932	Transcript	missense_variant	515/2390	400/1995	134/664	G/W	Ggg/Tgg		1		1	SDHA	HGNC	HGNC:10680	protein_coding	YES	CCDS3853.1	ENSP00000264932	P31040	A0A024QZ30	UPI0000000C2C	NM_004168.3	deleterious_low_confidence(0)		4/15		Gene3D:3.50.50.60,Pfam_domain:PF00890,PIRSF_domain:PIRSF000171,hmmpanther:PTHR11632,hmmpanther:PTHR11632:SF51,Superfamily_domains:SSF51905,TIGRFAM_domain:TIGR01812,TIGRFAM_domain:TIGR01816																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	225506	225506	G	T	1	0	0	0	0	1	0	0	0	14235	1232	43	2		2	SDHA	5	225506	Missense_Mutation	SNP	G	C3N-00580_TP		225506	181312753	307	19767											
SLC9A3	0	.	GRCh38	chr5	488454	488454	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaaacaggaggaagtcCagcagcccaatctgcaggtc	12	5	11	13	0	1	0	0	0	1	0	3	2	2	2	3	3	5	2	3	3	3	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.537G>T	p.=	p.L179L	ENST00000264938	3/17	119	100	19	95	95	0	strelka-varscan-mutect	SLC9A3,synonymous_variant,p.=,ENST00000264938,NM_004174.2;SLC9A3,synonymous_variant,p.=,ENST00000514375,NM_001284351.1;	A	ENST00000264938	Transcript	synonymous_variant	547/2584	537/2505	179/834	L	ctG/ctT		1		-1	SLC9A3	HGNC	HGNC:11073	protein_coding	YES	CCDS3855.1	ENSP00000264938	P48764		UPI000013D597	NM_004174.2			3/17		Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF90,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	488454	488454	C	A	1	0	0	0	0	0	0	0	1	14995	581	21	2		2	SLC9A3	5	488454	Silent	SNP	C	C3N-00580_TP	262948	488454	181049805	308	19768											
ZDHHC11	0	.	GRCh38	chr5	819606	819606	+	Missense_Mutation	SNP	C	C	A																															atcagccgggagttcctggcCttggctctggtggggcaaac																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1065G>T	p.Lys355Asn	p.K355N	ENST00000283441	10/13	493	426	67	348	347	1	strelka-varscan-mutect	ZDHHC11,missense_variant,p.Lys355Asn,ENST00000283441,NM_024786.2;ZDHHC11,non_coding_transcript_exon_variant,,ENST00000503758,;ZDHHC11,downstream_gene_variant,,ENST00000508951,;ZDHHC11,3_prime_UTR_variant,,ENST00000507800,;SPCS2P3,downstream_gene_variant,,ENST00000500401,;	A	ENST00000283441	Transcript	missense_variant	1449/2604	1065/1239	355/412	K/N	aaG/aaT		1		-1	ZDHHC11	HGNC	HGNC:19158	protein_coding	YES	CCDS3857.1	ENSP00000283441	Q9H8X9		UPI000013C384	NM_024786.2	tolerated_low_confidence(0.47)		10/13																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	819606	819606	C	A	1	0	0	0	0	1	0	0	0	18176	680	24	2		2	ZDHHC11	5	819606	Missense_Mutation	SNP	C	C3N-00580_TP	331152	819606	180718653	309	19769	418	2									
ZDHHC11	0	.	GRCh38	chr5	819608	819608	+	Missense_Mutation	SNP	T	T	G																															cagccgggagttcctggcctTggctctggtggggcaaacag																								novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1063A>C	p.Lys355Gln	p.K355Q	ENST00000283441	10/13	486	423	63	341	341	0	strelka-varscan-mutect	ZDHHC11,missense_variant,p.Lys355Gln,ENST00000283441,NM_024786.2;ZDHHC11,non_coding_transcript_exon_variant,,ENST00000503758,;ZDHHC11,downstream_gene_variant,,ENST00000508951,;ZDHHC11,3_prime_UTR_variant,,ENST00000507800,;SPCS2P3,downstream_gene_variant,,ENST00000500401,;	G	ENST00000283441	Transcript	missense_variant	1447/2604	1063/1239	355/412	K/Q	Aag/Cag		1		-1	ZDHHC11	HGNC	HGNC:19158	protein_coding	YES	CCDS3857.1	ENSP00000283441	Q9H8X9		UPI000013C384	NM_024786.2	tolerated_low_confidence(0.4)		10/13																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	819608	819608	T	G	1	0	0	0	0	1	0	0	0	18176	1826	63	5		5	ZDHHC11	5	819608	Missense_Mutation	SNP	T	C3N-00580_TP	2	819608	180718651	310	19770	418	2									
ADCY2	0	.	GRCh38	chr5	7804584	7804584	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggttgtcattgcttcacaGcttctttccaagccaaaatt	10	14	6	11	1	3	0	2	0	1	0	4	0	4	0	2	1	3	3	2	1	3	6			C3N-00580_TP	C3N-00580_NB	G	G																c.2776-1G>T		p.X926_splice	ENST00000338316		600	534	66	435	435	0	strelka-varscan-mutect	ADCY2,splice_acceptor_variant,,ENST00000338316,NM_020546.2;ADCY2,splice_acceptor_variant,,ENST00000382531,;ADCY2,splice_acceptor_variant,,ENST00000489501,;ADCY2,splice_acceptor_variant,,ENST00000493243,;	T	ENST00000338316	Transcript	splice_acceptor_variant	-/6575	2776/3276	926/1091			COSM1070365	1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2				21/24												1						HIGH	1	SNV	1		1	1										PASS		.	.												T	5	4	62	7804584	7804584	G	T	1	0	0	0	0	0	0	1	0	338	985	34	2		2	ADCY2	5	7804584	Splice_Site	SNP	G	C3N-00580_TP	6984976	7804584	173733675	311	19771											
C5orf49	0	.	GRCh38	chr5	7835407	7835407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttaacatgaagtcccaggCtttttgcatgttctctgtca	8	15	8	10	1	2	1	1	1	1	0	4	1	3	1	1	1	2	4	1	1	2	4	rs369384970		C3N-00580_TP	C3N-00580_NB	C	C																c.239G>T	p.Ser80Ile	p.S80I	ENST00000399810	2/3	270	248	22	165	165	0	strelka-varscan-mutect	C5orf49,missense_variant,p.Ser80Ile,ENST00000399810,NM_001089584.2;C5orf49,missense_variant,p.Ser80Ile,ENST00000509627,;	A	ENST00000399810	Transcript	missense_variant	708/2385	239/444	80/147	S/I	aGc/aTc	rs369384970	1		-1	C5orf49	HGNC	HGNC:27028	protein_coding	YES	CCDS43300.1	ENSP00000382708	A4QMS7		UPI0000160436	NM_001089584.2	deleterious(0.01)		2/3		hmmpanther:PTHR34444,Pfam_domain:PF15074																	MODERATE	1	SNV	1			1										PASS		rs369384970	.												A	3	1	62	7835407	7835407	C	A	1	0	0	0	0	1	0	0	0	2104	797	28	2		2	C5orf49	5	7835407	Missense_Mutation	SNP	C	C3N-00580_TP	30823	7835407	173702852	312	19772											
BASP1	0	.	GRCh38	chr5	17275221	17275221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttccagaactccaagatggGaggcaagctcagcaagaaga	15	5	11	10	0	1	4	1	0	0	4	3	5	3	5	2	2	3	3	2	2	5	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.5G>T	p.Gly2Val	p.G2V	ENST00000322611	2/2	267	136	131	221	221	0	strelka-varscan-mutect	BASP1,missense_variant,p.Gly2Val,ENST00000322611,NM_006317.4;BASP1,missense_variant,p.Gly2Val,ENST00000616743,NM_001271606.1;BASP1,missense_variant,p.Gly2Val,ENST00000606445,;	T	ENST00000322611	Transcript	missense_variant	265/1878	5/684	2/227	G/V	gGa/gTa		1		1	BASP1	HGNC	HGNC:957	protein_coding	YES	CCDS3888.1	ENSP00000319281	P80723		UPI0000140E98	NM_006317.4	deleterious_low_confidence(0)		2/2		hmmpanther:PTHR23212,hmmpanther:PTHR23212:SF0,Pfam_domain:PF05466																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	17275221	17275221	G	T	1	0	0	0	0	1	0	0	0	1469	1174	41	2		2	BASP1	5	17275221	Missense_Mutation	SNP	G	C3N-00580_TP	9439814	17275221	164263038	313	19773											
CDH6	0	.	GRCh38	chr5	31305403	31305403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtcacagcccaagatcCagatgctgccaggaatcctg	10	7	9	15	1	1	2	1	0	0	2	4	3	4	3	5	1	3	1	5	1	2	0	rs200424636		C3N-00580_TP	C3N-00580_NB	C	C																c.1229C>A	p.Pro410Gln	p.P410Q	ENST00000265071	7/12	230	194	36	144	144	0	strelka-varscan-mutect	CDH6,missense_variant,p.Pro410Gln,ENST00000265071,NM_004932.3;CDH6,missense_variant,p.Pro355Gln,ENST00000514738,;CDH6,downstream_gene_variant,,ENST00000508132,;	A	ENST00000265071	Transcript	missense_variant	1494/8476	1229/2373	410/790	P/Q	cCa/cAa	rs200424636	1		1	CDH6	HGNC	HGNC:1765	protein_coding	YES	CCDS3894.1	ENSP00000265071	P55285		UPI0000126D9B	NM_004932.3	deleterious(0.01)		7/12		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF322,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	2			1										PASS		rs200424636	.												A	3	1	62	31305403	31305403	C	A	1	0	0	0	0	1	0	0	0	2817	594	21	2		2	CDH6	5	31305403	Missense_Mutation	SNP	C	C3N-00580_TP	14030182	31305403	150232856	314	19774											
ADAMTS12	0	.	GRCh38	chr5	33576931	33576931	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccctgtgggtgtggtcAgcattctgggcctggatgta	5	11	16	9	0	2	0	1	0	1	0	2	1	2	1	2	5	1	2	2	5	1	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.3095T>A	p.Leu1032Gln	p.L1032Q	ENST00000504830	19/24	393	163	230	301	301	0	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Leu1032Gln,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Leu947Gln,ENST00000352040,;ADAMTS12,downstream_gene_variant,,ENST00000504582,;	T	ENST00000504830	Transcript	missense_variant	3431/8774	3095/4785	1032/1594	L/Q	cTg/cAg		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	tolerated(0.38)		19/24																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	33576931	33576931	A	T	1	0	0	0	0	1	0	0	0	301	188	7	4		4	ADAMTS12	5	33576931	Missense_Mutation	SNP	A	C3N-00580_TP	2271528	33576931	147961328	315	19775											
ADAMTS12	0	.	GRCh38	chr5	33630899	33630899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctatgggtcggcagtagaGctcacaaggatgtgctgaag	11	9	14	7	1	2	2	1	1	1	1	3	3	2	3	0	3	2	4	0	3	4	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1903C>A	p.Leu635Ile	p.L635I	ENST00000504830	13/24	355	163	192	214	214	0	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Leu635Ile,ENST00000504830,NM_030955.2;ADAMTS12,intron_variant,,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	T	ENST00000504830	Transcript	missense_variant	2239/8774	1903/4785	635/1594	L/I	Ctc/Atc		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	deleterious(0)		13/24		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	33630899	33630899	G	T	1	0	0	0	0	1	0	0	0	301	971	34	2		2	ADAMTS12	5	33630899	Missense_Mutation	SNP	G	C3N-00580_TP	53968	33630899	147907360	316	19776											
SPEF2	0	.	GRCh38	chr5	35691092	35691092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggttgacaatttaccaccctCcaacaattgcatactgggcc	11	10	7	13	0	0	1	0	1	0	0	1	1	1	1	4	2	4	2	4	2	5	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1580C>T	p.Ser527Phe	p.S527F	ENST00000356031	11/37	453	194	259	277	277	0	strelka-varscan-mutect	SPEF2,missense_variant,p.Ser527Phe,ENST00000637569,;SPEF2,missense_variant,p.Ser527Phe,ENST00000440995,;SPEF2,missense_variant,p.Ser527Phe,ENST00000356031,NM_024867.3;SPEF2,missense_variant,p.Ser527Phe,ENST00000509059,;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,non_coding_transcript_exon_variant,,ENST00000504054,;SPEF2,non_coding_transcript_exon_variant,,ENST00000503074,;	T	ENST00000356031	Transcript	missense_variant	1734/5681	1580/5469	527/1822	S/F	tCc/tTc		1		1	SPEF2	HGNC	HGNC:26293	protein_coding	YES	CCDS43309.1	ENSP00000348314	Q9C093	A0A140VKD0	UPI0001505B9F	NM_024867.3	tolerated(0.1)		11/37		hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	62	35691092	35691092	C	T	1	0	0	0	0	1	0	0	0	15386	855	30	3		3	SPEF2	5	35691092	Missense_Mutation	SNP	C	C3N-00580_TP	2060193	35691092	145847167	317	19777											
FYB	0	.	GRCh38	chr5	39134927	39134927	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggatgatttcaatttgctCtccttgcttgaagctcagtt	7	16	9	9	1	3	2	2	2	1	0	4	3	3	3	1	1	3	4	1	1	2	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1633G>T	p.Glu545Ter	p.E545*	ENST00000512982	8/19	411	371	40	218	218	0	strelka-varscan-mutect	FYB,stop_gained,p.Glu535Ter,ENST00000351578,NM_199335.3;FYB,stop_gained,p.Glu535Ter,ENST00000505428,NM_001465.4;FYB,stop_gained,p.Glu545Ter,ENST00000512982,NM_001243093.1;FYB,stop_gained,p.Glu535Ter,ENST00000515010,;	A	ENST00000512982	Transcript	stop_gained	1719/2747	1633/2520	545/839	E/*	Gag/Tag		1		-1	FYB	HGNC	HGNC:4036	protein_coding	YES	CCDS58945.1	ENSP00000425845	O15117		UPI00017A75FB	NM_001243093.1			8/19		Gene3D:2.30.30.40,Pfam_domain:PF07653,hmmpanther:PTHR16830,hmmpanther:PTHR16830:SF13,SMART_domains:SM00326,Superfamily_domains:SSF50044																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	62	39134927	39134927	C	A	1	0	0	0	0	0	1	0	0	5995	922	32	2		2	FYB	5	39134927	Nonsense_Mutation	SNP	C	C3N-00580_TP	3443835	39134927	142403332	318	19778											
PLCXD3	0	.	GRCh38	chr5	41382438	41382438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgagctttttggccacaGttccaaacacagagacaaaa	15	8	8	10	0	0	2	0	1	0	1	1	3	1	2	2	1	2	3	2	1	3	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.200C>A	p.Thr67Asn	p.T67N	ENST00000377801	2/3	366	313	53	259	259	0	strelka-varscan-mutect	PLCXD3,missense_variant,p.Thr67Asn,ENST00000377801,;PLCXD3,missense_variant,p.Thr67Asn,ENST00000328457,NM_001005473.2;	T	ENST00000377801	Transcript	missense_variant	275/7704	200/966	67/321	T/N	aCt/aAt		1		-1	PLCXD3	HGNC	HGNC:31822	protein_coding	YES	CCDS34150.1	ENSP00000367032	Q63HM9		UPI0000049DBB		tolerated(0.27)		2/3		Gene3D:3.20.20.190,PROSITE_profiles:PS50007,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33,SMART_domains:SM00148,Superfamily_domains:SSF51695																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	62	41382438	41382438	G	T	1	0	0	0	0	1	0	0	0	12137	1029	36	2		2	PLCXD3	5	41382438	Missense_Mutation	SNP	G	C3N-00580_TP	2247511	41382438	140155821	319	19779											
HCN1	0	.	GRCh38	chr5	45645409	45645409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catcttgatcactttggggtCcaggatgatttcagaactgt	9	14	10	8	0	3	3	2	2	1	1	4	4	4	4	1	3	1	0	1	3	1	3			C3N-00580_TP	C3N-00580_NB	C	C																c.625G>A	p.Asp209Asn	p.D209N	ENST00000303230	2/8	283	261	22	158	158	0	strelka-varscan-mutect	HCN1,missense_variant,p.Asp209Asn,ENST00000303230,NM_021072.3;HCN1,missense_variant,p.Asp209Asn,ENST00000634658,;HCN1,upstream_gene_variant,,ENST00000637256,;	T	ENST00000303230	Transcript	missense_variant	866/9885	625/2673	209/890	D/N	Gac/Aac	COSM5271836,COSM5403583	1		-1	HCN1	HGNC	HGNC:4845	protein_coding	YES	CCDS3952.1	ENSP00000307342	O60741		UPI00001AED69	NM_021072.3	tolerated(0.06)		2/8		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373,Superfamily_domains:SSF81324											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	62	45645409	45645409	C	T	1	0	0	0	0	1	0	0	0	6883	855	30	3		3	HCN1	5	45645409	Missense_Mutation	SNP	C	C3N-00580_TP	4262971	45645409	135892850	320	19780											
ESM1	0	.	GRCh38	chr5	54985475	54985475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaggcggccaccaggtGtgcaggcacgaggagcgtgg	7	4	18	12	3	0	0	0	0	0	0	1	2	1	1	3	6	2	3	3	6	0	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.43C>A	p.His15Asn	p.H15N	ENST00000381405	1/3	94	64	30	132	131	1	strelka-varscan-mutect	ESM1,missense_variant,p.His15Asn,ENST00000381405,NM_007036.4;ESM1,missense_variant,p.His15Asn,ENST00000381403,NM_001135604.1;ESM1,missense_variant,p.His15Asn,ENST00000601836,;ESM1,intron_variant,,ENST00000598310,;	T	ENST00000381405	Transcript	missense_variant	189/2169	43/555	15/184	H/N	Cac/Aac		1		-1	ESM1	HGNC	HGNC:3466	protein_coding	YES	CCDS3963.1	ENSP00000370812	Q9NQ30		UPI000012A1BA	NM_007036.4	tolerated(0.15)		1/3		hmmpanther:PTHR15428,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	54985475	54985475	G	T	1	0	0	0	0	1	0	0	0	5114	1377	48	2		2	ESM1	5	54985475	Missense_Mutation	SNP	G	C3N-00580_TP	9340066	54985475	126552784	321	19781											
RNF180	0	.	GRCh38	chr5	64214179	64214179	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctttcagaatccatccAgttttgatcctagtatgctg	9	16	6	10	0	1	2	1	1	0	1	5	2	5	2	4	0	1	3	4	0	3	6	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.853A>C	p.Ser285Arg	p.S285R	ENST00000389100	4/8	202	165	37	201	201	0	strelka-varscan-mutect	RNF180,missense_variant,p.Ser285Arg,ENST00000389100,NM_001113561.1;RNF180,missense_variant,p.Ser285Arg,ENST00000296615,NM_178532.3;RNF180,downstream_gene_variant,,ENST00000504296,;	C	ENST00000389100	Transcript	missense_variant	925/4906	853/1779	285/592	S/R	Agt/Cgt		1		1	RNF180	HGNC	HGNC:27752	protein_coding	YES	CCDS47219.1	ENSP00000373752	Q86T96		UPI0000141201	NM_001113561.1	tolerated(0.07)		4/8		hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF18																	MODERATE	1	SNV	1			1										PASS		rs1271978809	.												C	3	2	62	64214179	64214179	A	C	1	0	0	0	0	1	0	0	0	13641	188	7	5		5	RNF180	5	64214179	Missense_Mutation	SNP	A	C3N-00580_TP	9228704	64214179	117324080	322	19782											
NAIP	0	.	GRCh38	chr5	71012703	71012703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatccatgagctgtacggCtcataagtcacaaaagtctt	12	11	9	9	1	3	1	2	1	1	0	4	1	4	1	1	2	2	4	1	2	5	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.213G>A	p.=	p.E71E	ENST00000517649	4/17	147	95	52	165	165	0	strelka-varscan-mutect	NAIP,synonymous_variant,p.=,ENST00000517649,NM_004536.2;NAIP,synonymous_variant,p.=,ENST00000194097,;NAIP,synonymous_variant,p.=,ENST00000508426,;NAIP,intron_variant,,ENST00000503719,;NAIP,intron_variant,,ENST00000523981,NM_022892.1;NAIP,synonymous_variant,p.=,ENST00000519014,;NAIP,intron_variant,,ENST00000508794,;NAIP,upstream_gene_variant,,ENST00000447012,;	T	ENST00000517649	Transcript	synonymous_variant	504/6124	213/4212	71/1403	E	gaG/gaA		1		-1	NAIP	HGNC	HGNC:7634	protein_coding	YES	CCDS4009.1	ENSP00000428657	Q13075		UPI000013C609	NM_004536.2			4/17		PROSITE_profiles:PS50143,hmmpanther:PTHR10044,PROSITE_patterns:PS01282,Gene3D:1.10.1170.10,Pfam_domain:PF00653,SMART_domains:SM00238,Superfamily_domains:SSF57924																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	71012703	71012703	C	T	1	0	0	0	0	0	0	0	1	10154	796	28	3		3	NAIP	5	71012703	Silent	SNP	C	C3N-00580_TP	6798524	71012703	110525556	323	19783											
ANKDD1B	0	.	GRCh38	chr5	75620324	75620324	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcctcagatgaaccgcAcagccctgcattttgcagtg	8	11	9	13	1	1	2	1	1	0	1	2	2	2	2	3	0	5	4	3	0	1	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.307A>G	p.Thr103Ala	p.T103A	ENST00000601380	3/14	132	84	48	121	121	0	strelka-varscan-mutect	ANKDD1B,missense_variant,p.Thr103Ala,ENST00000601380,NM_001276713.1;ANKDD1B,intron_variant,,ENST00000506596,;	G	ENST00000601380	Transcript	missense_variant	483/2569	307/1587	103/528	T/A	Aca/Gca		1		1	ANKDD1B	HGNC	HGNC:32525	protein_coding	YES	CCDS64180.1	ENSP00000471417	A6NHY2		UPI0002A4709F	NM_001276713.1	deleterious(0.01)		3/14		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24125,hmmpanther:PTHR24125:SF1,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	62	75620324	75620324	A	G	1	0	0	0	0	1	0	0	0	725	159	6	5		5	ANKDD1B	5	75620324	Missense_Mutation	SNP	A	C3N-00580_TP	4607621	75620324	105917935	324	19784											
PDE8B	0	.	GRCh38	chr5	77331426	77331426	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccatgaagaggcgtcAgtccttcctcttctccacgc	8	10	9	14	2	3	3	1	2	2	1	6	4	5	3	4	1	0	0	4	1	1	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.675A>T	p.=	p.S225S	ENST00000264917	5/22	535	465	70	595	595	0	strelka-varscan-mutect	PDE8B,synonymous_variant,p.=,ENST00000264917,NM_003719.3;PDE8B,synonymous_variant,p.=,ENST00000340978,NM_001029854.2;PDE8B,synonymous_variant,p.=,ENST00000346042,NM_001029851.2;PDE8B,synonymous_variant,p.=,ENST00000342343,NM_001029853.2;PDE8B,synonymous_variant,p.=,ENST00000333194,NM_001029852.2;PDE8B,synonymous_variant,p.=,ENST00000505926,;PDE8B,synonymous_variant,p.=,ENST00000502945,;PDE8B,5_prime_UTR_variant,,ENST00000503963,;	T	ENST00000264917	Transcript	synonymous_variant	720/5956	675/2658	225/885	S	tcA/tcT		1		1	PDE8B	HGNC	HGNC:8794	protein_coding	YES	CCDS4037.1	ENSP00000264917	O95263		UPI0000001BBE	NM_003719.3			5/22		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF98																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	77331426	77331426	A	T	1	0	0	0	0	0	0	0	1	11742	175	7	4		4	PDE8B	5	77331426	Silent	SNP	A	C3N-00580_TP	1711102	77331426	104206833	325	19785											
OTP	0	.	GRCh38	chr5	77630484	77630484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaacccgccaggctgttgGacaggcccatggagttgggc	7	7	16	11	1	0	0	0	0	0	0	0	3	0	3	3	6	1	3	3	6	1	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.758C>A	p.Ser253Tyr	p.S253Y	ENST00000306422	3/3	236	177	59	466	466	0	strelka-varscan-mutect	OTP,missense_variant,p.Ser253Tyr,ENST00000306422,NM_032109.2;	T	ENST00000306422	Transcript	missense_variant	1897/3669	758/978	253/325	S/Y	tCc/tAc		1		-1	OTP	HGNC	HGNC:8518	protein_coding	YES	CCDS4039.1	ENSP00000302814	Q5XKR4		UPI0000021CAA	NM_032109.2	deleterious(0.04)		3/3		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF316																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	77630484	77630484	G	T	1	0	0	0	0	1	0	0	0	11378	1174	41	2		2	OTP	5	77630484	Missense_Mutation	SNP	G	C3N-00580_TP	299058	77630484	103907775	326	19786											
CMYA5	0	.	GRCh38	chr5	79738725	79738725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtaacgtagcgatgcaGaagaaagctcccatcacaga	14	7	11	9	2	1	3	1	0	0	3	2	4	2	3	1	1	4	5	1	1	4	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.9960G>T	p.Gln3320His	p.Q3320H	ENST00000446378	2/13	247	178	69	351	351	0	strelka-varscan-mutect	CMYA5,missense_variant,p.Gln3320His,ENST00000446378,NM_153610.4;CMYA5,non_coding_transcript_exon_variant,,ENST00000506603,;	T	ENST00000446378	Transcript	missense_variant	9991/12847	9960/12210	3320/4069	Q/H	caG/caT		1		1	CMYA5	HGNC	HGNC:14305	protein_coding	YES	CCDS47238.1	ENSP00000394770	Q8N3K9		UPI00004F9478	NM_153610.4	deleterious(0.02)		2/13		hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7																	MODERATE	1	SNV	5			1										PASS		rs1447821740	.												T	3	4	62	79738725	79738725	G	T	1	0	0	0	0	1	0	0	0	3368	933	33	2		2	CMYA5	5	79738725	Missense_Mutation	SNP	G	C3N-00580_TP	2108241	79738725	101799534	327	19787											
ACOT12	0	.	GRCh38	chr5	81359968	81359968	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgttgtaatcgaactttcCttctctcagcagccagatta	10	14	6	11	1	2	1	1	0	1	1	5	2	3	1	2	0	3	3	2	0	3	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.431G>T	p.Arg144Met	p.R144M	ENST00000307624	5/15	97	90	7	251	251	0	strelka-varscan-mutect	ACOT12,missense_variant,p.Arg144Met,ENST00000307624,NM_130767.2;ACOT12,missense_variant,p.Arg144Met,ENST00000513751,;	A	ENST00000307624	Transcript	missense_variant	460/2086	431/1668	144/555	R/M	aGg/aTg		1		-1	ACOT12	HGNC	HGNC:24436	protein_coding	YES	CCDS4055.1	ENSP00000303246	Q8WYK0		UPI0000126D7B	NM_130767.2	deleterious(0)		5/15		Gene3D:3.10.129.10,hmmpanther:PTHR11049,hmmpanther:PTHR11049:SF3,Superfamily_domains:SSF54637																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	81359968	81359968	C	A	1	0	0	0	0	1	0	0	0	192	681	24	2		2	ACOT12	5	81359968	Missense_Mutation	SNP	C	C3N-00580_TP	1621243	81359968	100178291	328	19788											
HAPLN1	0	.	GRCh38	chr5	83644558	83644558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccgccaggcgtcgtacaGctggtcgaaggaggcgatca	8	5	15	13	5	1	0	1	0	0	0	3	3	1	1	3	4	2	2	3	4	2	1			C3N-00580_TP	C3N-00580_NB	G	G																c.580C>A	p.Leu194Met	p.L194M	ENST00000274341	4/5	80	66	14	125	125	0	strelka-varscan-mutect	HAPLN1,missense_variant,p.Leu194Met,ENST00000274341,NM_001884.3;HAPLN1,missense_variant,p.Leu194Met,ENST00000510978,;HAPLN1,missense_variant,p.Leu194Met,ENST00000508307,;HAPLN1,downstream_gene_variant,,ENST00000504713,;HAPLN1,downstream_gene_variant,,ENST00000503117,;	T	ENST00000274341	Transcript	missense_variant	1431/5607	580/1065	194/354	L/M	Ctg/Atg	COSM4440967	1		-1	HAPLN1	HGNC	HGNC:2380	protein_coding	YES	CCDS4061.1	ENSP00000274341	P10915	A0A024RAK9	UPI0000131BFF	NM_001884.3	deleterious(0)		4/5		PROSITE_profiles:PS50963,hmmpanther:PTHR22804:SF10,hmmpanther:PTHR22804,PROSITE_patterns:PS01241,Gene3D:3.10.100.10,Pfam_domain:PF00193,SMART_domains:SM00445,Superfamily_domains:SSF56436											1						MODERATE	1	SNV	1		1	1										PASS		rs1228942084	.												T	3	4	62	83644558	83644558	G	T	1	0	0	0	0	1	0	0	0	6840	962	34	2		2	HAPLN1	5	83644558	Missense_Mutation	SNP	G	C3N-00580_TP	2284590	83644558	97893701	329	19789											
EDIL3	0	.	GRCh38	chr5	84060341	84060341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtggccagaggtccaggCattcactttgccttgcttgt	6	14	11	10	0	1	1	1	0	0	1	2	1	2	1	3	3	2	2	3	3	0	5	rs368032066		C3N-00580_TP	C3N-00580_NB	C	C																c.1096G>T	p.Ala366Ser	p.A366S	ENST00000296591	9/11	185	139	46	242	242	0	strelka-varscan-mutect	EDIL3,missense_variant,p.Ala366Ser,ENST00000296591,NM_005711.4;EDIL3,missense_variant,p.Ala356Ser,ENST00000380138,NM_001278642.1;EDIL3,non_coding_transcript_exon_variant,,ENST00000510271,;	A	ENST00000296591	Transcript	missense_variant	1515/4727	1096/1443	366/480	A/S	Gcc/Tcc	rs368032066	1		-1	EDIL3	HGNC	HGNC:3173	protein_coding	YES	CCDS4062.1	ENSP00000296591	O43854		UPI000004D126	NM_005711.4	deleterious(0)		9/11		PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127,PROSITE_patterns:PS01285,Gene3D:2.60.120.260,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		rs368032066	.												A	3	1	62	84060341	84060341	C	A	1	0	0	0	0	1	0	0	0	4743	710	25	2		2	EDIL3	5	84060341	Missense_Mutation	SNP	C	C3N-00580_TP	415783	84060341	97477918	330	19790											
NUDT12	0	.	GRCh38	chr5	103560044	103560044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcctaaaatgtttaccCtttctcaagcagaaattgga	14	12	6	9	0	1	1	1	0	1	1	2	2	1	2	2	1	4	2	2	1	6	6	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.205G>T	p.Gly69Trp	p.G69W	ENST00000230792	2/7	158	127	31	133	133	0	strelka-varscan-mutect	NUDT12,missense_variant,p.Gly69Trp,ENST00000230792,NM_031438.3;NUDT12,intron_variant,,ENST00000507423,NM_001300741.1;NUDT12,upstream_gene_variant,,ENST00000515407,;NUDT12,non_coding_transcript_exon_variant,,ENST00000508889,;	A	ENST00000230792	Transcript	missense_variant,splice_region_variant	302/3492	205/1389	69/462	G/W	Ggg/Tgg		1		-1	NUDT12	HGNC	HGNC:18826	protein_coding	YES	CCDS4096.1	ENSP00000230792	Q9BQG2		UPI0000073C53	NM_031438.3	deleterious(0.02)		2/7		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	103560044	103560044	C	A	1	0	0	0	0	1	0	0	0	10792	695	24	2		2	NUDT12	5	103560044	Missense_Mutation	SNP	C	C3N-00580_TP	19499703	103560044	77978215	331	19791											
TSSK1B	0	.	GRCh38	chr5	113434511	113434511	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttgcgagcttcgtccTcatgcagggctccccgggtt	4	12	11	14	3	2	0	1	0	1	0	5	1	4	0	3	2	3	4	3	2	0	4	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.329A>T	p.Glu110Val	p.E110V	ENST00000390666	1/1	105	72	33	113	113	0	strelka-varscan-mutect	TSSK1B,missense_variant,p.Glu110Val,ENST00000390666,NM_032028.3;MCC,intron_variant,,ENST00000408903,NM_001085377.1;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000416046,;CTD-2201G3.1,upstream_gene_variant,,ENST00000510381,;	A	ENST00000390666	Transcript	missense_variant	521/2478	329/1104	110/367	E/V	gAg/gTg		1		-1	TSSK1B	HGNC	HGNC:14968	protein_coding	YES	CCDS4112.1	ENSP00000375081	Q9BXA7	A0ZT98	UPI000003C96E	NM_032028.3	deleterious(0)		1/1		PROSITE_profiles:PS50011,hmmpanther:PTHR24343:SF76,hmmpanther:PTHR24343,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE		SNV				1										PASS		.	.												A	3	1	62	113434511	113434511	T	A	1	0	0	0	0	1	0	0	0	17176	1551	54	4		4	TSSK1B	5	113434511	Missense_Mutation	SNP	T	C3N-00580_TP	9874467	113434511	68103748	332	19792											
KCNN2	0	.	GRCh38	chr5	114493422	114493422	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gattaagaagtgtaaaaatgGagcagaggaaactgaatgac	19	7	12	3	0	0	4	0	2	0	2	0	7	0	6	0	2	2	2	0	2	7	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1402G>T	p.Glu468Ter	p.E468*	ENST00000512097	8/9	172	113	59	198	198	0	strelka-varscan-mutect	KCNN2,stop_gained,p.Glu468Ter,ENST00000512097,;KCNN2,stop_gained,p.Glu468Ter,ENST00000264773,NM_021614.3;KCNN2,stop_gained,p.Glu471Ter,ENST00000631899,;KCNN2,stop_gained,p.Glu120Ter,ENST00000610748,NM_001278204.1;KCNN2,stop_gained,p.Glu120Ter,ENST00000503706,NM_170775.2;RP11-492A10.1,intron_variant,,ENST00000514115,;KCNN2,non_coding_transcript_exon_variant,,ENST00000507750,;KCNN2,3_prime_UTR_variant,,ENST00000505491,;KCNN2,non_coding_transcript_exon_variant,,ENST00000506812,;KCNN2,non_coding_transcript_exon_variant,,ENST00000632892,;	T	ENST00000512097	Transcript	stop_gained	2420/3076	1402/1740	468/579	E/*	Gag/Tag		1		1	KCNN2	HGNC	HGNC:6291	protein_coding	YES	CCDS4114.1	ENSP00000427120	Q9H2S1		UPI000013D56A				8/9		hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF43,Pfam_domain:PF02888,Gene3D:1.10.287.70,SMART_domains:SM01053,Superfamily_domains:SSF81327																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	62	114493422	114493422	G	T	1	0	0	0	0	0	1	0	0	7995	1175	41	2		2	KCNN2	5	114493422	Nonsense_Mutation	SNP	G	C3N-00580_TP	1058911	114493422	67044837	333	19793											
AP3S1	0	.	GRCh38	chr5	115913429	115913429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaatcttcctgagatccCaagaaatattaacattggtg	14	13	7	7	0	1	3	0	2	1	2	3	4	3	3	2	1	1	0	2	1	6	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.521C>A	p.Pro174Gln	p.P174Q	ENST00000316788	6/6	196	178	18	143	143	0	varscan-mutect	AP3S1,missense_variant,p.Pro174Gln,ENST00000316788,NM_001284.2;AP3S1,non_coding_transcript_exon_variant,,ENST00000505423,;AP3S1,3_prime_UTR_variant,,ENST00000506430,;AP3S1,non_coding_transcript_exon_variant,,ENST00000395548,;	A	ENST00000316788	Transcript	missense_variant	1078/1730	521/582	174/193	P/Q	cCa/cAa		1		1	AP3S1	HGNC	HGNC:2013	protein_coding	YES	CCDS4123.1	ENSP00000325369	Q92572		UPI000002236E	NM_001284.2	tolerated_low_confidence(0.19)		6/6																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	115913429	115913429	C	A	1	0	0	0	0	1	0	0	0	865	594	21	2		2	AP3S1	5	115913429	Missense_Mutation	SNP	C	C3N-00580_TP	1420007	115913429	65624830	334	19794											
FBN2	0	.	GRCh38	chr5	128395221	128395221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtcattctccccgggagctCttgtgcacagcggccattca	6	10	10	15	3	4	0	2	0	2	0	5	1	4	1	3	2	3	2	3	2	0	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1132G>A	p.Glu378Lys	p.E378K	ENST00000508053	15/71	464	413	51	502	501	1	strelka-varscan-mutect	FBN2,missense_variant,p.Glu378Lys,ENST00000508053,;FBN2,missense_variant,p.Glu378Lys,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Glu377Lys,ENST00000619499,;FBN2,missense_variant,p.Glu345Lys,ENST00000508989,;	T	ENST00000508053	Transcript	missense_variant	2107/11132	1132/8739	378/2912	E/K	Gag/Aag		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		tolerated(0.16)		15/71		Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,Superfamily_domains:SSF57581																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	128395221	128395221	C	T	1	0	0	0	0	1	0	0	0	5566	922	32	3		3	FBN2	5	128395221	Missense_Mutation	SNP	C	C3N-00580_TP	12481792	128395221	53143038	335	19795											
TRPC7	0	.	GRCh38	chr5	136357323	136357323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccggatggcctggcgaCggcccttctccctcagcgtt	4	8	12	17	4	2	0	1	0	1	0	3	3	2	1	5	4	1	1	5	4	0	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.65G>T	p.Arg22Leu	p.R22L	ENST00000513104	2/12	122	87	35	131	131	0	strelka-varscan-mutect	TRPC7,missense_variant,p.Arg22Leu,ENST00000513104,NM_020389.2;TRPC7,missense_variant,p.Arg22Leu,ENST00000502753,;TRPC7,missense_variant,p.Arg22Leu,ENST00000378459,NM_001167577.1;TRPC7,missense_variant,p.Arg22Leu,ENST00000352189,NM_001167576.1;TRPC7,missense_variant,p.Arg22Leu,ENST00000503275,;TRPC7,missense_variant,p.Arg22Leu,ENST00000514963,;	A	ENST00000513104	Transcript	missense_variant	348/2987	65/2589	22/862	R/L	cGt/cTt		1		-1	TRPC7	HGNC	HGNC:20754	protein_coding	YES	CCDS47267.2	ENSP00000426070	Q9HCX4		UPI000004F27A	NM_020389.2	deleterious(0)		2/12		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9																	MODERATE	1	SNV	5			1										PASS		rs955730809	.												A	3	1	62	136357323	136357323	C	A	1	0	0	0	0	1	0	0	0	17090	536	19	1		1	TRPC7	5	136357323	Missense_Mutation	SNP	C	C3N-00580_TP	7962102	136357323	45180936	336	19796											
SIL1	0	.	GRCh38	chr5	138947188	138947188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagccctcgtcctcaccatCctgcagctccaggctggcca	6	8	9	18	1	1	0	1	0	0	0	5	0	4	0	6	2	3	4	6	2	1	1	rs772617071		C3N-00580_TP	C3N-00580_NB	C	C																c.1315G>T	p.Asp439Tyr	p.D439Y	ENST00000394817	10/10	201	152	49	225	225	0	strelka-varscan-mutect	SIL1,missense_variant,p.Asp439Tyr,ENST00000394817,NM_022464.4;SIL1,missense_variant,p.Asp439Tyr,ENST00000265195,NM_001037633.1;SIL1,missense_variant,p.Asp446Tyr,ENST00000509534,;SIL1,downstream_gene_variant,,ENST00000505945,;SIL1,non_coding_transcript_exon_variant,,ENST00000515008,;SIL1,downstream_gene_variant,,ENST00000503732,;	A	ENST00000394817	Transcript	missense_variant	1455/1923	1315/1386	439/461	D/Y	Gat/Tat	rs772617071	1		-1	SIL1	HGNC	HGNC:24624	protein_coding	YES	CCDS4209.1	ENSP00000378294	Q9H173	A0A0S2Z6B4	UPI000003ED21	NM_022464.4	deleterious(0.04)		10/10		hmmpanther:PTHR19316:SF6,hmmpanther:PTHR19316																	MODERATE	1	SNV	1			1										PASS		rs772617071	.												A	3	1	62	138947188	138947188	C	A	1	0	0	0	0	1	0	0	0	14585	855	30	2		2	SIL1	5	138947188	Missense_Mutation	SNP	C	C3N-00580_TP	2589865	138947188	42591071	337	19797											
MATR3	0	.	GRCh38	chr5	139308124	139308124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagggatgattctttttttGgtgagacctcgcataactat	9	16	10	6	1	1	2	0	2	1	1	2	4	1	3	1	2	1	2	1	2	3	7	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.709G>T	p.Gly237Cys	p.G237C	ENST00000618441	2/15	265	191	74	322	318	4	strelka-varscan-mutect	MATR3,missense_variant,p.Gly237Cys,ENST00000394800,;MATR3,missense_variant,p.Gly237Cys,ENST00000618441,NM_001194955.1;MATR3,missense_variant,p.Gly237Cys,ENST00000394805,NM_018834.5;MATR3,missense_variant,p.Gly237Cys,ENST00000502929,;MATR3,missense_variant,p.Gly237Cys,ENST00000361059,NM_199189.2;MATR3,missense_variant,p.Gly237Cys,ENST00000509990,NM_001194954.1;MATR3,missense_variant,p.Gly237Cys,ENST00000510056,;MATR3,missense_variant,p.Gly237Cys,ENST00000504045,;MATR3,missense_variant,p.Gly11Cys,ENST00000515833,;MATR3,intron_variant,,ENST00000620916,;MATR3,intron_variant,,ENST00000502499,;MATR3,intron_variant,,ENST00000503811,NM_001194956.1;MATR3,intron_variant,,ENST00000504203,NM_001282278.1;MATR3,intron_variant,,ENST00000509644,;MATR3,intron_variant,,ENST00000506147,;MATR3,intron_variant,,ENST00000512107,;MATR3,intron_variant,,ENST00000512876,;MATR3,intron_variant,,ENST00000514528,;MATR3,intron_variant,,ENST00000511249,;MATR3,intron_variant,,ENST00000513678,;MATR3,intron_variant,,ENST00000504311,;MATR3,downstream_gene_variant,,ENST00000504023,;MATR3,downstream_gene_variant,,ENST00000503340,;MATR3,downstream_gene_variant,,ENST00000505016,;MATR3,downstream_gene_variant,,ENST00000514694,;MATR3,downstream_gene_variant,,ENST00000514488,;MATR3,downstream_gene_variant,,ENST00000508689,;MATR3,downstream_gene_variant,,ENST00000511378,;MATR3,intron_variant,,ENST00000511978,;MATR3,intron_variant,,ENST00000509918,;MATR3,intron_variant,,ENST00000504643,;MATR3,intron_variant,,ENST00000513121,;MATR3,intron_variant,,ENST00000507860,;MATR3,upstream_gene_variant,,ENST00000505625,;MATR3,downstream_gene_variant,,ENST00000502394,;MATR3,upstream_gene_variant,,ENST00000514402,;	T	ENST00000618441	Transcript	missense_variant	1165/5282	709/2544	237/847	G/C	Ggt/Tgt		1		1	MATR3	EntrezGene	HGNC:6912	protein_coding	YES	CCDS4210.1	ENSP00000482895			UPI0000000DEE	NM_001194955.1	tolerated(0.12)		2/15		hmmpanther:PTHR15592																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	62	139308124	139308124	G	T	1	0	0	0	0	1	0	0	0	9263	1348	47	2		2	MATR3	5	139308124	Missense_Mutation	SNP	G	C3N-00580_TP	360936	139308124	42230135	338	19798											
PCDHA8	0	.	GRCh38	chr5	140841595	140841595	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaattctcggatcgacCgcgaggagctgtgcgggcgg	6	9	17	9	6	1	1	0	1	1	0	3	5	1	3	1	4	2	1	1	4	1	2	rs566154248		C3N-00580_TP	C3N-00580_NB	C	C																c.274C>A	p.Arg92Ser	p.R92S	ENST00000531613	1/4	685	488	197	907	907	0	strelka-varscan-mutect	PCDHA8,missense_variant,p.Arg92Ser,ENST00000531613,NM_018911.2;PCDHA8,missense_variant,p.Arg92Ser,ENST00000378123,NM_031856.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA7,downstream_gene_variant,,ENST00000356878,NM_031852.1;	A	ENST00000531613	Transcript	missense_variant	274/5260	274/2853	92/950	R/S	Cgc/Agc	rs566154248	1		1	PCDHA8	HGNC	HGNC:8674	protein_coding	YES	CCDS54919.1	ENSP00000434655	Q9Y5H6		UPI00001273D0	NM_018911.2	deleterious_low_confidence(0)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF08266,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF125,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs566154248	.												A	3	1	62	140841595	140841595	C	A	1	0	0	0	0	1	0	0	0	11617	652	23	1		1	PCDHA8	5	140841595	Missense_Mutation	SNP	C	C3N-00580_TP	1533471	140841595	40696664	339	19799											
PCDHA10	0	.	GRCh38	chr5	140856516	140856516	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatttccactagaaggcgcAtctgatgcggatgttggaga	10	10	13	8	3	1	3	0	1	1	2	2	6	2	4	1	3	1	2	1	3	2	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.468A>G	p.=	p.A156A	ENST00000307360	1/4	329	253	76	391	391	0	strelka-varscan-mutect	PCDHA10,synonymous_variant,p.=,ENST00000562220,NM_031859.2;PCDHA10,synonymous_variant,p.=,ENST00000307360,NM_018901.3;PCDHA10,synonymous_variant,p.=,ENST00000506939,NM_031860.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA9,downstream_gene_variant,,ENST00000378122,NM_014005.4;PCDHA14,upstream_gene_variant,,ENST00000506751,;	G	ENST00000307360	Transcript	synonymous_variant	468/5254	468/2847	156/948	A	gcA/gcG		1		1	PCDHA10	HGNC	HGNC:8664	protein_coding	YES	CCDS54921.1	ENSP00000304234	Q9Y5I2		UPI00001273D3	NM_018901.3			1/4		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF124,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	62	140856516	140856516	A	G	1	0	0	0	0	0	0	0	1	11607	204	8	5		5	PCDHA10	5	140856516	Silent	SNP	A	C3N-00580_TP	14921	140856516	40681743	340	19800											
PCDHB2	0	.	GRCh38	chr5	141096532	141096532	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgagctggtgccccgggCggccgagccgggctacctgg	4	4	17	16	5	0	0	0	0	0	0	0	2	0	0	6	5	4	2	6	5	1	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1742C>A	p.Ala581Glu	p.A581E	ENST00000194155	1/1	317	218	99	367	367	0	strelka-varscan-mutect	PCDHB2,missense_variant,p.Ala581Glu,ENST00000194155,NM_018936.3;PCDHB2,3_prime_UTR_variant,,ENST00000622947,;PCDHB3,upstream_gene_variant,,ENST00000231130,NM_018937.4;PCDHB2,downstream_gene_variant,,ENST00000624874,;PCDHB2,downstream_gene_variant,,ENST00000625033,;PCDHB2,upstream_gene_variant,,ENST00000624994,;AC005754.7,downstream_gene_variant,,ENST00000607216,;CTC-270D5.1,upstream_gene_variant,,ENST00000623615,;AC005754.7,downstream_gene_variant,,ENST00000625128,;CTC-270D5.1,upstream_gene_variant,,ENST00000623741,;AC005754.7,downstream_gene_variant,,ENST00000625066,;AC005754.7,downstream_gene_variant,,ENST00000624802,;	A	ENST00000194155	Transcript	missense_variant	1955/4126	1742/2397	581/798	A/E	gCg/gAg		1		1	PCDHB2	HGNC	HGNC:8687	protein_coding	YES	CCDS4244.1	ENSP00000194155	Q9Y5E7		UPI00001273DC	NM_018936.3	deleterious_low_confidence(0.01)		1/1		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												A	3	1	62	141096532	141096532	C	A	1	0	0	0	0	1	0	0	0	11629	768	27	1		1	PCDHB2	5	141096532	Missense_Mutation	SNP	C	C3N-00580_TP	240016	141096532	40441727	341	19801											
PCDHB4	0	.	GRCh38	chr5	141123993	141123993	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctcctggtggatggcttCtcccagccctacctgcctct	3	12	10	16	0	2	0	0	0	2	0	4	1	3	1	5	3	4	2	5	3	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1995C>T	p.=	p.F665F	ENST00000194152	1/1	458	337	121	602	602	0	strelka-varscan-mutect	PCDHB4,synonymous_variant,p.=,ENST00000194152,NM_018938.3;AC005754.8,downstream_gene_variant,,ENST00000606030,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;PCDHB4,non_coding_transcript_exon_variant,,ENST00000623478,;	T	ENST00000194152	Transcript	synonymous_variant	2195/3825	1995/2388	665/795	F	ttC/ttT		1		1	PCDHB4	HGNC	HGNC:8689	protein_coding	YES	CCDS4246.1	ENSP00000194152	Q9Y5E5		UPI00001273DF	NM_018938.3			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF55,SMART_domains:SM00112																	LOW	1	SNV				1										PASS		.	.												T	2	4	62	141123993	141123993	C	T	1	0	0	0	0	0	0	0	1	11631	912	32	3		3	PCDHB4	5	141123993	Silent	SNP	C	C3N-00580_TP	27461	141123993	40414266	342	19802											
PCDHB5	0	.	GRCh38	chr5	141137595	141137595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggagcagggcggccccgGtcggtcgctgctcggtgccc	3	5	19	14	5	0	0	0	0	0	0	3	2	0	2	3	7	3	3	3	7	0	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2161G>T	p.Val721Phe	p.V721F	ENST00000231134	1/1	288	217	71	335	335	0	strelka-varscan-mutect	PCDHB5,missense_variant,p.Val721Phe,ENST00000231134,NM_015669.4;PCDHB5,downstream_gene_variant,,ENST00000623915,;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;	T	ENST00000231134	Transcript	missense_variant	2378/3408	2161/2388	721/795	V/F	Gtc/Ttc		1		1	PCDHB5	HGNC	HGNC:8690	protein_coding	YES	CCDS4247.1	ENSP00000231134	Q9Y5E4		UPI0000169DEA	NM_015669.4	tolerated_low_confidence(0.19)		1/1		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF90																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	62	141137595	141137595	G	T	1	0	0	0	0	1	0	0	0	11632	1261	44	2		2	PCDHB5	5	141137595	Missense_Mutation	SNP	G	C3N-00580_TP	13602	141137595	40400664	343	19803											
PCDHB7	0	.	GRCh38	chr5	141174380	141174380	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaacggccacctgtttgcCctcaggtccctggactacga	8	8	10	15	2	1	0	1	0	0	0	2	3	2	1	4	3	3	1	4	3	2	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1545C>A	p.=	p.A515A	ENST00000231137	1/1	855	680	175	1031	1031	0	strelka-varscan-mutect	PCDHB7,synonymous_variant,p.=,ENST00000231137,NM_018940.3;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.4;AC005754.7,non_coding_transcript_exon_variant,,ENST00000624802,;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,upstream_gene_variant,,ENST00000625128,;CH17-140K24.4,upstream_gene_variant,,ENST00000623995,;	A	ENST00000231137	Transcript	synonymous_variant	1762/3765	1545/2382	515/793	A	gcC/gcA		1		1	PCDHB7	HGNC	HGNC:8692	protein_coding	YES	CCDS4249.1	ENSP00000231137	Q9Y5E2		UPI00001273E3	NM_018940.3			1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW		SNV				1										PASS		rs1301232056	.												A	2	1	62	141174380	141174380	C	A	1	0	0	0	0	0	0	0	1	11634	610	22	2		2	PCDHB7	5	141174380	Silent	SNP	C	C3N-00580_TP	36785	141174380	40363879	344	19804											
PCDHB8	0	.	GRCh38	chr5	141178047	141178047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaacaatggaggccagcGggaagctcatttgcagacaa	15	5	12	9	1	1	2	1	0	0	2	1	4	1	4	1	3	4	2	1	3	5	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.13G>A	p.Gly5Arg	p.G5R	ENST00000239444	1/1	387	327	60	493	493	0	strelka-varscan-mutect	PCDHB8,missense_variant,p.Gly5Arg,ENST00000239444,NM_019120.4;PCDHB16,upstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.3;PCDHB16,upstream_gene_variant,,ENST00000625044,;CH17-140K24.5,upstream_gene_variant,,ENST00000623884,;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,upstream_gene_variant,,ENST00000625128,;AC005754.7,upstream_gene_variant,,ENST00000624802,;CH17-140K24.4,non_coding_transcript_exon_variant,,ENST00000623995,;CH17-140K24.5,upstream_gene_variant,,ENST00000623407,;	A	ENST00000239444	Transcript	missense_variant	258/2740	13/2406	5/801	G/R	Ggg/Agg		1		1	PCDHB8	HGNC	HGNC:8693	protein_coding	YES	CCDS4250.1	ENSP00000239444	Q9UN66		UPI000192C41A	NM_019120.4	tolerated_low_confidence(0.54)		1/1		hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE		SNV				1										PASS		.	.												A	3	1	62	141178047	141178047	G	A	1	0	0	0	0	1	0	0	0	11635	1116	39	1		1	PCDHB8	5	141178047	Missense_Mutation	SNP	G	C3N-00580_TP	3667	141178047	40360212	345	19805											
PCDHB10	0	.	GRCh38	chr5	141194217	141194217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggtgctggacgccaaCgacaactcgcccttcgtgct	6	9	12	14	4	0	0	0	0	0	0	2	2	0	1	2	2	5	3	2	2	2	1	rs549814048		C3N-00580_TP	C3N-00580_NB	C	C																c.1665C>A	p.Asn555Lys	p.N555K	ENST00000239446	1/1	396	306	90	437	436	1	strelka-varscan-mutect	PCDHB10,missense_variant,p.Asn555Lys,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,NM_019119.4;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.6,upstream_gene_variant,,ENST00000625144,;	A	ENST00000239446	Transcript	missense_variant	1865/3290	1665/2403	555/800	N/K	aaC/aaA	rs549814048	1		1	PCDHB10	HGNC	HGNC:8681	protein_coding	YES	CCDS4252.1	ENSP00000239446	Q9UN67		UPI0000048F2E	NM_018930.3	deleterious_low_confidence(0.01)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF54,hmmpanther:PTHR24028,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE		SNV				1										PASS		rs549814048	.												A	3	1	62	141194217	141194217	C	A	1	0	0	0	0	1	0	0	0	11622	535	19	1		1	PCDHB10	5	141194217	Missense_Mutation	SNP	C	C3N-00580_TP	16170	141194217	40344042	346	19806											
PCDHGA2	0	.	GRCh38	chr5	141340497	141340497	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttacatctctatcaactCcgacactggagtactctatg	10	13	5	13	1	4	0	1	0	3	0	6	2	5	1	1	1	3	1	1	1	5	4	rs758184570		C3N-00580_TP	C3N-00580_NB	C	C																c.1526C>A	p.Ser509Tyr	p.S509Y	ENST00000394576	1/4	158	112	46	235	235	0	strelka-varscan-mutect	PCDHGA2,missense_variant,p.Ser509Tyr,ENST00000394576,NM_018915.3;PCDHGA2,missense_variant,p.Ser509Tyr,ENST00000528330,NM_032009.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3;PCDHGA3,upstream_gene_variant,,ENST00000619750,NM_032011.1;PCDHGA3,upstream_gene_variant,,ENST00000612467,;	A	ENST00000394576	Transcript	missense_variant	1526/4605	1526/2799	509/932	S/Y	tCc/tAc	rs758184570	1		1	PCDHGA2	HGNC	HGNC:8700	protein_coding	YES	CCDS47289.1	ENSP00000378077	Q9Y5H1		UPI0000072E67	NM_018915.3	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF134,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs758184570	.												A	3	1	62	141340497	141340497	C	A	1	0	0	0	0	1	0	0	0	11641	855	30	2		2	PCDHGA2	5	141340497	Missense_Mutation	SNP	C	C3N-00580_TP	146280	141340497	40197762	347	19807											
PCDHGB2	0	.	GRCh38	chr5	141360907	141360907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagggaggacgtgccgccgGgcttctttgtgcttcaagtg	5	11	16	9	3	2	1	1	1	1	0	2	3	2	3	2	3	2	2	2	3	1	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.772G>T	p.Gly258Cys	p.G258C	ENST00000522605	1/4	175	139	36	236	236	0	strelka-varscan-mutect	PCDHGB2,missense_variant,p.Gly258Cys,ENST00000522605,NM_018923.2;PCDHGB2,missense_variant,p.Gly258Cys,ENST00000622527,NM_032096.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA5,upstream_gene_variant,,ENST00000518069,NM_018918.2;PCDHGA5,upstream_gene_variant,,ENST00000611914,NM_032054.1;PCDHGA4,downstream_gene_variant,,ENST00000612927,NM_032053.2;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000522605	Transcript	missense_variant	772/4602	772/2796	258/931	G/C	Ggc/Tgc		1		1	PCDHGB2	HGNC	HGNC:8709	protein_coding	YES	CCDS54924.1	ENSP00000429018	Q9Y5G2		UPI000006EE67	NM_018923.2	deleterious(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF73,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	141360907	141360907	G	T	1	0	0	0	0	1	0	0	0	11650	1232	43	2		2	PCDHGB2	5	141360907	Missense_Mutation	SNP	G	C3N-00580_TP	20410	141360907	40177352	348	19808											
PCDHGB3	0	.	GRCh38	chr5	141372729	141372729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaatgctgcaccacaaGatcttctatgtgatgaagcc	13	10	8	10	0	2	4	0	3	2	1	2	4	2	4	2	0	3	2	2	0	5	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2335G>T	p.Asp779Tyr	p.D779Y	ENST00000576222	1/4	189	154	35	263	263	0	strelka-varscan-mutect	PCDHGB3,missense_variant,p.Asp779Tyr,ENST00000576222,NM_018924.4;PCDHGB3,missense_variant,p.Asp779Tyr,ENST00000618934,NM_032097.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA6,upstream_gene_variant,,ENST00000610583,NM_032086.1;PCDHGA6,upstream_gene_variant,,ENST00000517434,NM_018919.2;PCDHGA5,downstream_gene_variant,,ENST00000611914,NM_032054.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000576222	Transcript	missense_variant	2466/4727	2335/2790	779/929	D/Y	Gat/Tat		1		1	PCDHGB3	HGNC	HGNC:8710	protein_coding	YES	CCDS58980.1	ENSP00000461862	Q9Y5G1		UPI0000EE35B5	NM_018924.4	deleterious(0)		1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	141372729	141372729	G	T	1	0	0	0	0	1	0	0	0	11651	942	33	2		2	PCDHGB3	5	141372729	Missense_Mutation	SNP	G	C3N-00580_TP	11822	141372729	40165530	349	19809											
PCDHGA11	0	.	GRCh38	chr5	141421263	141421263	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcgcggggaccgcagtcgGctgctgctgctgctgtgcat	4	8	16	13	4	0	0	0	0	0	0	1	1	0	1	1	3	6	7	1	3	0	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.36G>T	p.=	p.R12R	ENST00000398587	1/4	96	76	20	154	154	0	strelka-varscan-mutect	PCDHGA11,synonymous_variant,p.=,ENST00000398587,NM_018914.2;PCDHGA11,synonymous_variant,p.=,ENST00000622044,NM_032091.1;PCDHGA11,synonymous_variant,p.=,ENST00000518882,NM_032092.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB7,intron_variant,,ENST00000398594,NM_018927.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGA10,downstream_gene_variant,,ENST00000612503,NM_032090.1;PCDHGB7,downstream_gene_variant,,ENST00000612073,NM_032101.2;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000398587	Transcript	synonymous_variant	69/4647	36/2808	12/935	R	cgG/cgT		1		1	PCDHGA11	HGNC	HGNC:8698	protein_coding	YES	CCDS47294.1	ENSP00000381589	Q9Y5H2		UPI00000739DC	NM_018914.2			1/4		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR24028:SF84,hmmpanther:PTHR24028																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	141421263	141421263	G	T	1	0	0	0	0	0	0	0	1	11639	1190	42	2		2	PCDHGA11	5	141421263	Silent	SNP	G	C3N-00580_TP	48534	141421263	40116996	350	19810											
PCDH1	0	.	GRCh38	chr5	141864128	141864128	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccacctggctgaccgTctcaccaagacgtgtctggg	6	8	13	14	2	2	2	1	1	2	1	3	2	2	2	4	3	1	2	4	3	1	0	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.2203A>T	p.Thr735Ser	p.T735S	ENST00000287008	3/5	105	56	49	60	60	0	strelka-varscan-mutect	PCDH1,missense_variant,p.Thr735Ser,ENST00000287008,NM_032420.3;PCDH1,missense_variant,p.Thr735Ser,ENST00000394536,NM_001278613.1,NM_002587.4;PCDH1,3_prime_UTR_variant,,ENST00000515351,;PCDH1,intron_variant,,ENST00000503492,;PCDH1,downstream_gene_variant,,ENST00000514773,;PCDH1,non_coding_transcript_exon_variant,,ENST00000357517,;PCDH1,non_coding_transcript_exon_variant,,ENST00000511044,;PCDH1,downstream_gene_variant,,ENST00000505937,;	A	ENST00000287008	Transcript	missense_variant	2351/4793	2203/3714	735/1237	T/S	Acg/Tcg		1		-1	PCDH1	HGNC	HGNC:8655	protein_coding	YES	CCDS4267.1	ENSP00000287008	Q08174		UPI000016158F	NM_032420.3	deleterious(0.04)		3/5		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF326,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	141864128	141864128	T	A	1	0	0	0	0	1	0	0	0	11593	1667	58	4		4	PCDH1	5	141864128	Missense_Mutation	SNP	T	C3N-00580_TP	442865	141864128	39674131	351	19811											
PPARGC1B	0	.	GRCh38	chr5	149833319	149833319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcgcccactgcggctggagGtgaaaagggaggtccgccgg	7	5	18	11	4	0	1	0	1	0	0	1	3	1	3	3	6	2	1	3	6	2	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1246G>C	p.Val416Leu	p.V416L	ENST00000309241	5/12	306	169	137	238	238	0	strelka-varscan-mutect	PPARGC1B,missense_variant,p.Val416Leu,ENST00000309241,NM_133263.3;PPARGC1B,missense_variant,p.Val416Leu,ENST00000394320,;PPARGC1B,missense_variant,p.Val352Leu,ENST00000403750,NM_001172699.1;PPARGC1B,missense_variant,p.Val377Leu,ENST00000360453,NM_001172698.1;PPARGC1B,missense_variant,p.Val103Leu,ENST00000434684,;	C	ENST00000309241	Transcript	missense_variant	1278/10568	1246/3072	416/1023	V/L	Gtg/Ctg		1		1	PPARGC1B	HGNC	HGNC:30022	protein_coding	YES	CCDS4298.1	ENSP00000312649	Q86YN6		UPI000006F49D	NM_133263.3	tolerated(0.18)		5/12		hmmpanther:PTHR15528:SF12,hmmpanther:PTHR15528																	MODERATE	1	SNV	1			1										PASS		rs1202471627	.												C	3	2	62	149833319	149833319	G	C	1	0	0	0	0	1	0	0	0	12410	1261	44	4		4	PPARGC1B	5	149833319	Missense_Mutation	SNP	G	C3N-00580_TP	7969191	149833319	31704940	352	19812											
NDST1	0	.	GRCh38	chr5	150521507	150521507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcccgcacagacccgttgGtgctggtctttgtggagagc	5	11	13	12	2	1	2	0	0	1	2	2	3	2	2	2	3	2	3	2	3	0	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.253G>T	p.Val85Leu	p.V85L	ENST00000261797	2/15	890	696	194	731	731	0	strelka-varscan-mutect	NDST1,missense_variant,p.Val85Leu,ENST00000261797,NM_001543.4;NDST1,missense_variant,p.Val85Leu,ENST00000523767,NM_001301063.1;NDST1,missense_variant,p.Val85Leu,ENST00000519157,;NDST1,downstream_gene_variant,,ENST00000522491,;NDST1,downstream_gene_variant,,ENST00000518299,;NDST1,downstream_gene_variant,,ENST00000518346,;NDST1,downstream_gene_variant,,ENST00000524161,;	T	ENST00000261797	Transcript	missense_variant	755/8030	253/2649	85/882	V/L	Gtg/Ttg		1		1	NDST1	HGNC	HGNC:7680	protein_coding	YES	CCDS34277.1	ENSP00000261797	P52848		UPI000012CDA5	NM_001543.4	deleterious(0.02)		2/15		Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF30																	MODERATE	1	SNV	1			1										PASS		rs1045644220	.												T	3	4	62	150521507	150521507	G	T	1	0	0	0	0	1	0	0	0	10276	1261	44	2		2	NDST1	5	150521507	Missense_Mutation	SNP	G	C3N-00580_TP	688188	150521507	31016752	353	19813											
FAT2	0	.	GRCh38	chr5	151566371	151566371	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcagggtgtagcgaaccCtgccattgtcttccgagtca	8	11	11	11	2	2	0	1	0	1	0	3	2	3	0	3	1	4	2	3	1	3	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2561G>T	p.Arg854Met	p.R854M	ENST00000261800	1/23	163	131	32	185	185	0	strelka-varscan-mutect	FAT2,missense_variant,p.Arg854Met,ENST00000261800,NM_001447.2;	A	ENST00000261800	Transcript	missense_variant	2574/14534	2561/13050	854/4349	R/M	aGg/aTg		1		-1	FAT2	HGNC	HGNC:3596	protein_coding	YES	CCDS4317.1	ENSP00000261800	Q9NYQ8		UPI0000055B22	NM_001447.2	tolerated(0.06)		1/23		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	151566371	151566371	C	A	1	0	0	0	0	1	0	0	0	5550	681	24	2		2	FAT2	5	151566371	Missense_Mutation	SNP	C	C3N-00580_TP	1044864	151566371	29971888	354	19814											
FAT2	0	.	GRCh38	chr5	151566530	151566530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgtcagcagcttccaggagGacttctggggtgtgcccagg	6	9	15	11	0	2	0	1	0	1	0	3	2	3	2	2	5	3	2	2	5	0	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2402C>T	p.Ser801Phe	p.S801F	ENST00000261800	1/23	162	122	40	171	171	0	strelka-varscan-mutect	FAT2,missense_variant,p.Ser801Phe,ENST00000261800,NM_001447.2;	A	ENST00000261800	Transcript	missense_variant	2415/14534	2402/13050	801/4349	S/F	tCc/tTc		1		-1	FAT2	HGNC	HGNC:3596	protein_coding	YES	CCDS4317.1	ENSP00000261800	Q9NYQ8		UPI0000055B22	NM_001447.2	deleterious(0)		1/23		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	151566530	151566530	G	A	1	0	0	0	0	1	0	0	0	5550	1174	41	3		3	FAT2	5	151566530	Missense_Mutation	SNP	G	C3N-00580_TP	159	151566530	29971729	355	19815											
GLRA1	0	.	GRCh38	chr5	151855170	151855170	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagatgaggtcattcatcgtAtatccaactgggatgggatc	12	11	11	7	1	2	2	2	1	0	1	5	4	3	4	1	3	1	1	1	3	4	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.567T>A	p.Tyr189Ter	p.Y189*	ENST00000455880	6/9	364	286	78	334	334	0	strelka-varscan-mutect	GLRA1,stop_gained,p.Tyr189Ter,ENST00000274576,NM_000171.3,NM_001292000.1;GLRA1,stop_gained,p.Tyr189Ter,ENST00000455880,NM_001146040.1;GLRA1,non_coding_transcript_exon_variant,,ENST00000471351,;GLRA1,3_prime_UTR_variant,,ENST00000462581,;RP11-54C4.2,downstream_gene_variant,,ENST00000603996,;	T	ENST00000455880	Transcript	stop_gained	854/1707	567/1374	189/457	Y/*	taT/taA		1		-1	GLRA1	HGNC	HGNC:4326	protein_coding	YES	CCDS54942.1	ENSP00000411593	P23415		UPI0000DA6BF2	NM_001146040.1			6/9		hmmpanther:PTHR18945:SF213,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	62	151855170	151855170	A	T	1	0	0	0	0	0	1	0	0	6333	456	16	4		4	GLRA1	5	151855170	Nonsense_Mutation	SNP	A	C3N-00580_TP	288640	151855170	29683089	356	19816											
GRIA1	0	.	GRCh38	chr5	153811225	153811225	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggagccacgggattgtaActggagcagatggagacccc	10	7	15	9	1	0	2	0	0	0	2	0	6	0	5	3	4	3	2	3	4	1	3			C3N-00580_TP	C3N-00580_NB	A	A																c.2751A>C	p.Ter917TyrextTer52	p.*917Yext*52	ENST00000518783	16/16	270	240	30	211	211	0	strelka-varscan-mutect	GRIA1,stop_lost,p.Ter907TyrextTer52,ENST00000285900,NM_000827.3;GRIA1,stop_lost,p.Ter917TyrextTer52,ENST00000518783,NM_001258021.1;GRIA1,stop_lost,p.Ter907TyrextTer52,ENST00000340592,NM_001114183.1,NM_001258020.1;GRIA1,stop_lost,p.Ter838TyrextTer52,ENST00000521843,NM_001258023.1;GRIA1,stop_lost,p.Ter917TyrextTer?,ENST00000448073,NM_001258022.1;GRIA1,stop_lost,p.Ter827TyrextTer?,ENST00000518142,NM_001258019.1;	C	ENST00000518783	Transcript	stop_lost	2778/5233	2751/2751	917/916	*/Y	taA/taC	COSM1208882,COSM1208883	1		1	GRIA1	HGNC	HGNC:4571	protein_coding	YES	CCDS58987.1	ENSP00000428994	P42261		UPI0001E8F433	NM_001258021.1			16/16													1,1						HIGH	1	SNV	2		1,1	1										PASS		.	.												C	4	2	62	153811225	153811225	A	C	1	0	0	0	0	0	0	0	0	6647	50	2	5		5	GRIA1	5	153811225	Nonstop_Mutation	SNP	A	C3N-00580_TP	1956055	153811225	27727034	357	19817											
HAVCR2	0	.	GRCh38	chr5	157104678	157104678	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atagttacctgggccatgtcCcctggtggtaagcatccttg	7	12	11	11	0	0	0	0	0	0	0	2	0	2	0	5	3	2	3	5	3	3	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.466G>T	p.Gly156Ter	p.G156*	ENST00000307851	3/7	183	149	34	122	122	0	strelka-varscan-mutect	HAVCR2,stop_gained,p.Gly156Ter,ENST00000307851,NM_032782.4;HAVCR2,stop_gained,p.Gly39Ter,ENST00000524219,;HAVCR2,intron_variant,,ENST00000522593,;CTB-120L21.1,upstream_gene_variant,,ENST00000517708,;HAVCR2,downstream_gene_variant,,ENST00000517358,;HAVCR2,non_coding_transcript_exon_variant,,ENST00000521665,;HAVCR2,downstream_gene_variant,,ENST00000522902,;	A	ENST00000307851	Transcript	stop_gained	1197/2907	466/906	156/301	G/*	Gga/Tga		1		-1	HAVCR2	HGNC	HGNC:18437	protein_coding	YES	CCDS4333.1	ENSP00000312002	Q8TDQ0		UPI000011AAFA	NM_032782.4			3/7		hmmpanther:PTHR15498:SF45,hmmpanther:PTHR15498																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	62	157104678	157104678	C	A	1	0	0	0	0	0	1	0	0	6860	632	22	2		2	HAVCR2	5	157104678	Nonsense_Mutation	SNP	C	C3N-00580_TP	3293453	157104678	24433581	358	19818											
HAVCR2	0	.	GRCh38	chr5	157104735	157104735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctctctgccgagtcggtgCaggggtgaccttggctaatg	5	11	15	10	2	2	1	0	1	2	0	4	2	2	1	2	4	2	2	2	4	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.409G>T	p.Ala137Ser	p.A137S	ENST00000307851	3/7	198	125	73	113	113	0	strelka-varscan-mutect	HAVCR2,missense_variant,p.Ala137Ser,ENST00000307851,NM_032782.4;HAVCR2,missense_variant,p.Ala20Ser,ENST00000524219,;HAVCR2,intron_variant,,ENST00000522593,;CTB-120L21.1,upstream_gene_variant,,ENST00000517708,;HAVCR2,downstream_gene_variant,,ENST00000517358,;HAVCR2,non_coding_transcript_exon_variant,,ENST00000521665,;HAVCR2,downstream_gene_variant,,ENST00000522902,;	A	ENST00000307851	Transcript	missense_variant	1140/2907	409/906	137/301	A/S	Gca/Tca		1		-1	HAVCR2	HGNC	HGNC:18437	protein_coding	YES	CCDS4333.1	ENSP00000312002	Q8TDQ0		UPI000011AAFA	NM_032782.4	deleterious(0.03)		3/7		hmmpanther:PTHR15498:SF45,hmmpanther:PTHR15498																	MODERATE	1	SNV	1			1										PASS		rs1241964348	.												A	3	1	62	157104735	157104735	C	A	1	0	0	0	0	1	0	0	0	6860	710	25	2		2	HAVCR2	5	157104735	Missense_Mutation	SNP	C	C3N-00580_TP	57	157104735	24433524	359	19819											
FAM71B	0	.	GRCh38	chr5	157165583	157165583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactaggcttttgttgtcttCgggtggtgcgtccccagata	5	14	12	10	2	1	1	0	0	1	1	3	1	2	1	2	3	1	2	2	3	2	6			C3N-00580_TP	C3N-00580_NB	C	C																c.586G>A	p.Glu196Lys	p.E196K	ENST00000302938	1/2	67	54	13	42	42	0	strelka-varscan-mutect	FAM71B,missense_variant,p.Glu196Lys,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;	T	ENST00000302938	Transcript	missense_variant	682/2515	586/1818	196/605	E/K	Gaa/Aaa	COSM1064909	1		-1	FAM71B	HGNC	HGNC:28397	protein_coding	YES	CCDS4335.1	ENSP00000305596	Q8TC56	A0A140VJJ4	UPI000006F9DC	NM_130899.2	deleterious(0.03)		1/2		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	62	157165583	157165583	C	T	1	0	0	0	0	1	0	0	0	5472	893	31	1		1	FAM71B	5	157165583	Missense_Mutation	SNP	C	C3N-00580_TP	60848	157165583	24372676	360	19820											
CYFIP2	0	.	GRCh38	chr5	157339168	157339168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaatcacaatgtgtccGccccctatggccgtatcacc	9	8	8	16	2	2	0	2	0	0	0	3	0	3	0	6	2	0	1	6	2	4	2	rs377031549		C3N-00580_TP	C3N-00580_NB	G	G																c.2572G>T	p.Ala858Ser	p.A858S	ENST00000616178	23/32	318	216	102	299	299	0	strelka-varscan-mutect	CYFIP2,missense_variant,p.Ala807Ser,ENST00000521420,NM_001291721.1;CYFIP2,missense_variant,p.Ala833Ser,ENST00000618329,NM_014376.3;CYFIP2,missense_variant,p.Ala858Ser,ENST00000616178,NM_001291722.1;CYFIP2,missense_variant,p.Ala833Ser,ENST00000620254,NM_001037333.2;CYFIP2,missense_variant,p.Ala697Ser,ENST00000435847,;CYFIP2,missense_variant,p.Ala637Ser,ENST00000522463,;FNDC9,downstream_gene_variant,,ENST00000312349,NM_001001343.3;FNDC9,downstream_gene_variant,,ENST00000520782,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000520424,;	T	ENST00000616178	Transcript	missense_variant	2712/4210	2572/3837	858/1278	A/S	Gcc/Tcc	rs377031549	1		1	CYFIP2	HGNC	HGNC:13760	protein_coding	YES	CCDS78077.1	ENSP00000479719	Q96F07		UPI0000DC89D8	NM_001291722.1	tolerated(0.52)		23/32		Pfam_domain:PF05994,hmmpanther:PTHR12195,hmmpanther:PTHR12195:SF1																	MODERATE	1	SNV	1			1										PASS		rs377031549	.												T	3	4	62	157339168	157339168	G	T	1	0	0	0	0	1	0	0	0	3941	1087	38	1		1	CYFIP2	5	157339168	Missense_Mutation	SNP	G	C3N-00580_TP	173585	157339168	24199091	361	19821											
WWC1	0	.	GRCh38	chr5	168385383	168385383	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccagcaactgcatgccgtCtgggagcataagctgggctc	9	8	12	12	1	1	0	0	0	1	0	2	1	1	1	2	2	7	5	2	2	3	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.402C>G	p.=	p.V134V	ENST00000521089	3/23	293	238	55	258	258	0	strelka-varscan-mutect	WWC1,synonymous_variant,p.=,ENST00000265293,NM_015238.2;WWC1,synonymous_variant,p.=,ENST00000393895,;WWC1,synonymous_variant,p.=,ENST00000521089,NM_001161662.1,NM_001161661.1;WWC1,non_coding_transcript_exon_variant,,ENST00000523043,;WWC1,non_coding_transcript_exon_variant,,ENST00000519859,;	G	ENST00000521089	Transcript	synonymous_variant	405/3562	402/3360	134/1119	V	gtC/gtG		1		1	WWC1	HGNC	HGNC:29435	protein_coding	YES	CCDS54945.1	ENSP00000427772	Q8IX03		UPI00017A7149	NM_001161662.1,NM_001161661.1			3/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF22																	LOW	1	SNV	2			1										PASS		.	.												G	2	3	62	168385383	168385383	C	G	1	0	0	0	0	0	0	0	1	17969	900	32	4		4	WWC1	5	168385383	Silent	SNP	C	C3N-00580_TP	11046215	168385383	13152876	362	19822											
SNCB	0	.	GRCh38	chr5	176626407	176626407	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcgcttaccttcagatcAgtagggaattcctccctctt	8	13	8	12	1	3	1	2	0	1	1	6	3	5	3	3	2	1	2	3	2	3	5	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.273T>A	p.=	p.T91T	ENST00000310112	5/7	670	594	76	630	630	0	strelka-varscan-mutect	SNCB,synonymous_variant,p.=,ENST00000614675,NM_001318034.1;SNCB,synonymous_variant,p.=,ENST00000310112,NM_001001502.1;SNCB,synonymous_variant,p.=,ENST00000393693,NM_003085.3;SNCB,synonymous_variant,p.=,ENST00000510387,;SNCB,synonymous_variant,p.=,ENST00000506696,;EIF4E1B,upstream_gene_variant,,ENST00000318682,NM_001099408.1;EIF4E1B,upstream_gene_variant,,ENST00000510660,;MIR4281,downstream_gene_variant,,ENST00000580852,;EIF4E1B,upstream_gene_variant,,ENST00000510473,;SNCB,non_coding_transcript_exon_variant,,ENST00000508006,;EIF4E1B,upstream_gene_variant,,ENST00000515458,;	T	ENST00000310112	Transcript	synonymous_variant	524/1383	273/405	91/134	T	acT/acA		1		-1	SNCB	HGNC	HGNC:11140	protein_coding	YES	CCDS4406.1	ENSP00000308057	Q16143		UPI000003173C	NM_001001502.1			5/7		hmmpanther:PTHR13820,hmmpanther:PTHR13820:SF4,Pfam_domain:PF01387,Gene3D:1xq8A00,Superfamily_domains:0053543,Prints_domain:PR01213																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	176626407	176626407	A	T	1	0	0	0	0	0	0	0	1	15163	175	7	4		4	SNCB	5	176626407	Silent	SNP	A	C3N-00580_TP	8241024	176626407	4911852	363	19823											
MAML1	0	.	GRCh38	chr5	179765828	179765828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaggacctgtttaatgAggacttcgaggagaagaagg	14	8	14	5	1	0	4	0	2	0	2	1	8	0	6	1	4	0	1	1	4	4	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.818A>G	p.Glu273Gly	p.E273G	ENST00000292599	2/5	214	144	70	211	211	0	strelka-varscan-mutect	MAML1,missense_variant,p.Glu273Gly,ENST00000292599,NM_014757.4;MAML1,non_coding_transcript_exon_variant,,ENST00000503050,;MAML1,upstream_gene_variant,,ENST00000507385,;	G	ENST00000292599	Transcript	missense_variant	1081/5723	818/3051	273/1016	E/G	gAg/gGg		1		1	MAML1	HGNC	HGNC:13632	protein_coding	YES	CCDS34315.1	ENSP00000292599	Q92585		UPI0000071286	NM_014757.4	deleterious(0)		2/5		hmmpanther:PTHR15692:SF19,hmmpanther:PTHR15692																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	179765828	179765828	A	G	1	0	0	0	0	1	0	0	0	9126	304	11	5		5	MAML1	5	179765828	Missense_Mutation	SNP	A	C3N-00580_TP	3139421	179765828	1772431	364	19824											
RASGEF1C	0	.	GRCh38	chr5	180138016	180138016	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtgggctgaggctgcctgGggtgaccatgtcggaggcac	5	7	20	9	1	0	2	0	2	0	0	1	3	0	3	2	7	1	3	2	7	0	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.37C>G	p.Pro13Ala	p.P13A	ENST00000393371	1/13	69	43	26	87	87	0	strelka-varscan-mutect	RASGEF1C,missense_variant,p.Pro13Ala,ENST00000393371,;RASGEF1C,missense_variant,p.Pro13Ala,ENST00000361132,NM_175062.3;RASGEF1C,5_prime_UTR_variant,,ENST00000615330,;RASGEF1C,upstream_gene_variant,,ENST00000522500,;RASGEF1C,upstream_gene_variant,,ENST00000519883,;RASGEF1C,upstream_gene_variant,,ENST00000520209,;	C	ENST00000393371	Transcript	missense_variant	334/2395	37/1401	13/466	P/A	Cca/Gca		1		-1	RASGEF1C	HGNC	HGNC:27400	protein_coding	YES	CCDS4452.1	ENSP00000377037	Q8N431		UPI0000037308		deleterious(0.02)		1/13		hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF186																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	180138016	180138016	G	C	1	0	0	0	0	1	0	0	0	13232	1232	43	4		4	RASGEF1C	5	180138016	Missense_Mutation	SNP	G	C3N-00580_TP	372188	180138016	1400243	365	19825											
GFPT2	0	.	GRCh38	chr5	180316796	180316796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtagctggttccacagcCaatcacgatgagccgtcggc	8	8	13	12	3	1	1	1	1	0	0	3	2	2	1	3	3	3	3	3	3	2	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1120G>T	p.Gly374Cys	p.G374C	ENST00000253778	12/19	199	145	54	241	241	0	strelka-varscan-mutect	GFPT2,missense_variant,p.Gly374Cys,ENST00000253778,NM_005110.2;GFPT2,downstream_gene_variant,,ENST00000518906,;GFPT2,non_coding_transcript_exon_variant,,ENST00000520165,;GFPT2,downstream_gene_variant,,ENST00000518185,;GFPT2,downstream_gene_variant,,ENST00000510122,;	A	ENST00000253778	Transcript	missense_variant	1290/3093	1120/2049	374/682	G/C	Ggc/Tgc		1		-1	GFPT2	HGNC	HGNC:4242	protein_coding	YES	CCDS43411.1	ENSP00000253778	O94808	A0A0S2Z4X9	UPI000014F5AC	NM_005110.2	deleterious(0)		12/19		Gene3D:3.40.50.10490,Pfam_domain:PF01380,PROSITE_profiles:PS51464,hmmpanther:PTHR10937,hmmpanther:PTHR10937:SF10,Superfamily_domains:SSF53697,TIGRFAM_domain:TIGR01135																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	180316796	180316796	C	A	1	0	0	0	0	1	0	0	0	6220	594	21	2		2	GFPT2	5	180316796	Missense_Mutation	SNP	C	C3N-00580_TP	178780	180316796	1221463	366	19826											
FLT4	0	.	GRCh38	chr5	180616906	180616906	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggggaagctcacctttcgGgaagccaggaactccatccc	9	6	12	14	2	1	0	1	0	0	0	4	3	3	3	4	4	3	1	4	4	3	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.3090C>G	p.=	p.S1030S	ENST00000261937	22/30	599	437	162	688	688	0	strelka-varscan-mutect	FLT4,synonymous_variant,p.=,ENST00000261937,NM_182925.4;FLT4,synonymous_variant,p.=,ENST00000393347,NM_002020.4;FLT4,synonymous_variant,p.=,ENST00000502649,;FLT4,synonymous_variant,p.=,ENST00000512795,;FLT4,3_prime_UTR_variant,,ENST00000619105,;FLT4,downstream_gene_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,non_coding_transcript_exon_variant,,ENST00000514810,;FLT4,upstream_gene_variant,,ENST00000510000,;	C	ENST00000261937	Transcript	synonymous_variant	3169/5857	3090/4092	1030/1363	S	tcC/tcG		1		-1	FLT4	HGNC	HGNC:3767	protein_coding	YES	CCDS4457.1	ENSP00000261937	P35916		UPI00001488E7	NM_182925.4			22/30		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF49,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	62	180616906	180616906	G	C	1	0	0	0	0	0	0	0	1	5800	1219	43	4		4	FLT4	5	180616906	Silent	SNP	G	C3N-00580_TP	300110	180616906	921353	367	19827											
FOXC1	0	.	GRCh38	chr6	1611266	1611266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagcgggagcagcccccCgggcagcctgccgtcggcgc	4	3	16	18	5	0	0	0	0	0	0	2	1	1	1	6	3	5	2	6	3	0	0			C3N-00580_TP	C3N-00580_NB	C	C																c.821C>T	p.Pro274Leu	p.P274L	ENST00000380874	1/1	130	117	13	259	259	0	strelka-varscan-mutect	FOXC1,missense_variant,p.Pro274Leu,ENST00000380874,NM_001453.2;	T	ENST00000380874	Transcript	missense_variant	1295/3926	821/1662	274/553	P/L	cCg/cTg	CD121393	1		1	FOXC1	HGNC	HGNC:3800	protein_coding	YES	CCDS4473.1	ENSP00000370256	Q12948	W6CJ52	UPI000012ADC5	NM_001453.2	tolerated(0.07)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF166,hmmpanther:PTHR11829																	MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	62	1611266	1611266	C	T	1	0	0	0	0	1	0	0	0	5854	652	23	1		1	FOXC1	6	1611266	Missense_Mutation	SNP	C	C3N-00580_TP		1611266	169194713	368	19828											
GMDS	0	.	GRCh38	chr6	1960834	1960834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtatttcctgcactttccCataaagttcacttgttgagg	8	15	9	9	0	1	1	1	1	0	0	3	1	3	1	2	2	1	4	2	2	3	7	rs199870515		C3N-00580_TP	C3N-00580_NB	C	C																c.478G>T	p.Gly160Trp	p.G160W	ENST00000380815	5/11	142	99	43	114	114	0	strelka-mutect	GMDS,missense_variant,p.Gly160Trp,ENST00000380815,NM_001500.3;GMDS,missense_variant,p.Gly130Trp,ENST00000530927,NM_001253846.1;GMDS,non_coding_transcript_exon_variant,,ENST00000530459,;GMDS,upstream_gene_variant,,ENST00000531690,;GMDS,non_coding_transcript_exon_variant,,ENST00000530075,;	A	ENST00000380815	Transcript	missense_variant	748/1752	478/1119	160/372	G/W	Ggg/Tgg	rs199870515	1		-1	GMDS	HGNC	HGNC:4369	protein_coding	YES	CCDS4474.1	ENSP00000370194	O60547		UPI000012B8AA	NM_001500.3	deleterious_low_confidence(0)		5/11		HAMAP:MF_00955,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF429,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01472,Pfam_domain:PF16363,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		rs199870515	.												A	3	1	62	1960834	1960834	C	A	1	0	0	0	0	1	0	0	0	6365	594	21	2		2	GMDS	6	1960834	Missense_Mutation	SNP	C	C3N-00580_TP	349568	1960834	168845145	369	19829											
CAGE1	0	.	GRCh38	chr6	7373278	7373278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcaaatttctaacttgaGtgagcaatttctcaagtcta	13	15	6	7	0	3	2	1	2	3	0	4	2	3	2	0	0	3	2	0	0	5	6	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1541C>A	p.Thr514Asn	p.T514N	ENST00000502583	5/14	176	89	87	118	118	0	strelka-varscan-mutect	CAGE1,missense_variant,p.Thr514Asn,ENST00000502583,NM_001170692.1;CAGE1,missense_variant,p.Thr514Asn,ENST00000379918,;CAGE1,missense_variant,p.Thr378Asn,ENST00000296742,NM_205864.2;CAGE1,missense_variant,p.Thr514Asn,ENST00000338150,NM_001170693.1;CAGE1,missense_variant,p.Thr514Asn,ENST00000512086,;CAGE1,missense_variant,p.Thr526Asn,ENST00000512691,;CAGE1,downstream_gene_variant,,ENST00000509324,;CAGE1,missense_variant,p.Thr514Asn,ENST00000458291,;CAGE1,3_prime_UTR_variant,,ENST00000442019,;	T	ENST00000502583	Transcript	missense_variant	2106/3284	1541/2520	514/839	T/N	aCt/aAt		1		-1	CAGE1	HGNC	HGNC:21622	protein_coding	YES	CCDS54965.1	ENSP00000425493	Q8TC20		UPI0001C0B380	NM_001170692.1	deleterious(0.01)		5/14		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR36864,Pfam_domain:PF15066																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	7373278	7373278	G	T	1	0	0	0	0	1	0	0	0	2262	1029	36	2		2	CAGE1	6	7373278	Missense_Mutation	SNP	G	C3N-00580_TP	5412444	7373278	163432701	370	19830											
RIOK1	0	.	GRCh38	chr6	7417394	7417394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaaaattcctaaacatGtgaaaaaaagaaaggagaag	25	5	7	4	0	0	3	0	1	0	2	1	4	1	3	1	1	2	0	1	1	11	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1660G>T	p.Val554Leu	p.V554L	ENST00000379834	17/17	146	118	28	108	108	0	strelka-varscan-mutect	RIOK1,missense_variant,p.Val554Leu,ENST00000379834,NM_031480.2;RIOK1,non_coding_transcript_exon_variant,,ENST00000264874,;	T	ENST00000379834	Transcript	missense_variant	2167/2810	1660/1707	554/568	V/L	Gtg/Ttg		1		1	RIOK1	HGNC	HGNC:18656	protein_coding	YES	CCDS4500.1	ENSP00000369162	Q9BRS2		UPI000003FDCE	NM_031480.2	deleterious(0.03)		17/17		PIRSF_domain:PIRSF038147,hmmpanther:PTHR10593,hmmpanther:PTHR10593:SF23,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	7417394	7417394	G	T	1	0	0	0	0	1	0	0	0	13551	1377	48	2		2	RIOK1	6	7417394	Missense_Mutation	SNP	G	C3N-00580_TP	44116	7417394	163388585	371	19831											
CD83	0	.	GRCh38	chr6	14131642	14131642	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgaaaggccctattccctGaagatccgaaacactaccag	15	7	7	12	1	0	3	0	2	0	1	2	4	2	3	4	1	2	0	4	1	6	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.276G>C	p.=	p.L92L	ENST00000379153	3/5	610	527	83	569	569	0	strelka-varscan-mutect	CD83,synonymous_variant,p.=,ENST00000379153,NM_004233.3,NM_001040280.1;CD83,synonymous_variant,p.=,ENST00000612003,NM_001251901.1;	C	ENST00000379153	Transcript	synonymous_variant	447/2471	276/618	92/205	L	ctG/ctC		1		1	CD83	HGNC	HGNC:1703	protein_coding	YES	CCDS4532.1	ENSP00000368450	Q01151		UPI000004C561	NM_004233.3,NM_001040280.1			3/5		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR15193,hmmpanther:PTHR15193:SF1,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	62	14131642	14131642	G	C	1	0	0	0	0	0	0	0	1	2745	1277	45	4		4	CD83	6	14131642	Silent	SNP	G	C3N-00580_TP	6714248	14131642	156674337	372	19832											
E2F3	0	.	GRCh38	chr6	20479916	20479916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtttaaaaacccccaaggGcaaaggaagagctgcactac	15	6	10	10	0	0	1	0	0	0	1	0	2	0	2	2	3	4	4	2	3	7	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.464G>T	p.Gly155Val	p.G155V	ENST00000346618	2/7	378	322	56	289	289	0	strelka-varscan-mutect	E2F3,missense_variant,p.Gly155Val,ENST00000346618,NM_001949.4;E2F3,missense_variant,p.Gly30Val,ENST00000535432,NM_001243076.2;E2F3,missense_variant,p.Gly40Val,ENST00000613242,;	T	ENST00000346618	Transcript	missense_variant	530/4749	464/1398	155/465	G/V	gGc/gTc		1		1	E2F3	HGNC	HGNC:3115	protein_coding	YES	CCDS4545.1	ENSP00000262904	O00716		UPI0000129AC2	NM_001949.4	deleterious(0)		2/7		hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF44																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	20479916	20479916	G	T	1	0	0	0	0	1	0	0	0	4692	1203	42	2		2	E2F3	6	20479916	Missense_Mutation	SNP	G	C3N-00580_TP	6348274	20479916	150326063	373	19833											
ZNF311	0	.	GRCh38	chr6	28996426	28996426	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagatgtttcccattgattCtctaatttgacatcctgaac	11	16	5	9	0	1	4	0	3	1	1	4	4	3	4	2	0	1	1	2	0	3	6	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.576G>C	p.Glu192Asp	p.E192D	ENST00000377179	7/7	271	214	57	206	206	0	strelka-varscan	ZNF311,missense_variant,p.Glu192Asp,ENST00000377179,NM_001010877.2;ZNF311,non_coding_transcript_exon_variant,,ENST00000483450,;	G	ENST00000377179	Transcript	missense_variant	1089/2730	576/2001	192/666	E/D	gaG/gaC		1		-1	ZNF311	HGNC	HGNC:13847	protein_coding	YES	CCDS34357.1	ENSP00000366384	Q5JNZ3		UPI000020D71E	NM_001010877.2	tolerated(0.19)		7/7		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF273																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	62	28996426	28996426	C	G	1	0	0	0	0	1	0	0	0	18409	912	32	4		4	ZNF311	6	28996426	Missense_Mutation	SNP	C	C3N-00580_TP	8516510	28996426	141809553	374	19834											
GABBR1	0	.	GRCh38	chr6	29627604	29627604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggccccctggccagcccCcgctcatgggaaacagtgcc	6	5	11	19	1	1	0	1	0	0	0	1	1	1	1	7	3	3	1	7	3	1	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.539G>T	p.Gly180Val	p.G180V	ENST00000377034	6/23	330	286	44	488	488	0	strelka-varscan	GABBR1,missense_variant,p.Gly180Val,ENST00000377034,NM_001470.2;GABBR1,missense_variant,p.Gly118Val,ENST00000377016,NM_021904.2;GABBR1,missense_variant,p.Gly63Val,ENST00000377012,NM_021903.2;GABBR1,missense_variant,p.Gly63Val,ENST00000355973,;GABBR1,missense_variant,p.Gly180Val,ENST00000376977,;GABBR1,downstream_gene_variant,,ENST00000462632,;GABBR1,downstream_gene_variant,,ENST00000476670,;GABBR1,missense_variant,p.Gly180Val,ENST00000494877,;GABBR1,3_prime_UTR_variant,,ENST00000472823,;GABBR1,3_prime_UTR_variant,,ENST00000491829,;GABBR1,3_prime_UTR_variant,,ENST00000489385,;GABBR1,intron_variant,,ENST00000485508,;GABBR1,downstream_gene_variant,,ENST00000467259,;GABBR1,upstream_gene_variant,,ENST00000477029,;	A	ENST00000377034	Transcript	missense_variant	875/4527	539/2886	180/961	G/V	gGg/gTg		1		-1	GABBR1	HGNC	HGNC:4070	protein_coding	YES	CCDS4663.1	ENSP00000366233	Q9UBS5		UPI000004618A	NM_001470.2	deleterious(0)		6/23		hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF42,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR01177																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	29627604	29627604	C	A	1	0	0	0	0	1	0	0	0	6026	623	22	2		2	GABBR1	6	29627604	Missense_Mutation	SNP	C	C3N-00580_TP	631178	29627604	141178375	375	19835											
PPP1R18	0	.	GRCh38	chr6	30684617	30684617	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggtgaaggtgtgtccacTgcggcggggggcccccaccc	5	5	17	14	3	0	1	0	1	0	0	1	2	1	1	4	6	1	0	4	6	1	0	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1402A>T	p.Ser468Cys	p.S468C	ENST00000274853	1/3	54	29	25	64	64	0	strelka-varscan	PPP1R18,missense_variant,p.Ser468Cys,ENST00000274853,NM_133471.3;PPP1R18,missense_variant,p.Ser468Cys,ENST00000615527,;PPP1R18,missense_variant,p.Ser468Cys,ENST00000399199,NM_001134870.1;PPP1R18,missense_variant,p.Ser20Cys,ENST00000615892,;NRM,downstream_gene_variant,,ENST00000259953,NM_007243.2;NRM,downstream_gene_variant,,ENST00000376421,NM_001270707.1;NRM,downstream_gene_variant,,ENST00000444096,;NRM,downstream_gene_variant,,ENST00000376420,NM_001270709.1;PPP1R18,intron_variant,,ENST00000488324,;PPP1R18,intron_variant,,ENST00000467662,;NRM,downstream_gene_variant,,ENST00000470733,;NRM,downstream_gene_variant,,ENST00000462857,;NRM,downstream_gene_variant,,ENST00000495946,;NRM,downstream_gene_variant,,ENST00000482141,;NRM,downstream_gene_variant,,ENST00000474864,;	A	ENST00000274853	Transcript	missense_variant	3279/4599	1402/1842	468/613	S/C	Agt/Tgt		1		-1	PPP1R18	HGNC	HGNC:29413	protein_coding	YES	CCDS43444.1	ENSP00000274853	Q6NYC8	A0A024RCJ8	UPI00001C1E5E	NM_133471.3	deleterious_low_confidence(0)		1/3		hmmpanther:PTHR21685:SF0,hmmpanther:PTHR21685,Pfam_domain:PF13914																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	30684617	30684617	T	A	1	0	0	0	0	1	0	0	0	12478	1580	55	4		4	PPP1R18	6	30684617	Missense_Mutation	SNP	T	C3N-00580_TP	1057013	30684617	140121362	376	19836											
MDC1	0	.	GRCh38	chr6	30700584	30700584	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccaacccgtagtggaaTggagcaatgagggaagtcct	12	6	13	10	1	0	1	0	1	0	0	1	4	1	4	3	3	3	2	3	3	5	1	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.6151A>G	p.Ile2051Val	p.I2051V	ENST00000376406	15/15	322	237	85	205	205	0	strelka-varscan	MDC1,missense_variant,p.Ile2051Val,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,upstream_gene_variant,,ENST00000442150,;MDC1,non_coding_transcript_exon_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,;RPL7P4,upstream_gene_variant,,ENST00000430239,;	C	ENST00000376406	Transcript	missense_variant	6799/7576	6151/6270	2051/2089	I/V	Att/Gtt		1		-1	MDC1	HGNC	HGNC:21163	protein_coding	YES	CCDS34384.1	ENSP00000365588	Q14676		UPI00001AF453	NM_014641.2	tolerated(0.65)		15/15		hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF1																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	62	30700584	30700584	T	C	1	0	0	0	0	1	0	0	0	9341	1464	51	5		5	MDC1	6	30700584	Missense_Mutation	SNP	T	C3N-00580_TP	15967	30700584	140105395	377	19837											
LY6G5B	0	.	GRCh38	chr6	31672171	31672171	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccccatggtcacactgtcCctgaacctgggcttgtcttt	6	12	9	14	0	2	1	1	1	1	0	3	2	3	1	4	2	1	1	4	2	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.495C>G	p.=	p.S165S	ENST00000375864	3/3	581	454	127	515	515	0	strelka-varscan	LY6G5B,synonymous_variant,p.=,ENST00000375864,NM_021221.2;XXbac-BPG32J3.22,synonymous_variant,p.=,ENST00000409691,;LY6G5B,synonymous_variant,p.=,ENST00000409525,;XXbac-BPG32J3.22,synonymous_variant,p.=,ENST00000617558,;XXbac-BPG32J3.22,3_prime_UTR_variant,,ENST00000375880,;CSNK2B,downstream_gene_variant,,ENST00000375885,;LY6G5C,downstream_gene_variant,,ENST00000375863,;CSNK2B,downstream_gene_variant,,ENST00000375882,NM_001320.6,NM_001282385.1;CSNK2B,downstream_gene_variant,,ENST00000375866,;CSNK2B,downstream_gene_variant,,ENST00000375865,;LY6G5C,downstream_gene_variant,,ENST00000383237,NM_025262.3;LY6G5C,downstream_gene_variant,,ENST00000474395,;LY6G5B,upstream_gene_variant,,ENST00000471088,;LY6G5C,downstream_gene_variant,,ENST00000467098,;CSNK2B,downstream_gene_variant,,ENST00000468255,;LY6G5C,downstream_gene_variant,,ENST00000460141,;CSNK2B,downstream_gene_variant,,ENST00000481269,;CSNK2B,downstream_gene_variant,,ENST00000475875,;CSNK2B,downstream_gene_variant,,ENST00000465481,;LY6G5C,downstream_gene_variant,,ENST00000474678,;	G	ENST00000375864	Transcript	synonymous_variant	1279/2654	495/606	165/201	S	tcC/tcG		1		1	LY6G5B	HGNC	HGNC:13931	protein_coding	YES	CCDS34400.1	ENSP00000365024	Q8NDX9	N0E641	UPI0000071C7A	NM_021221.2			3/3		hmmpanther:PTHR14313																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	62	31672171	31672171	C	G	1	0	0	0	0	0	0	0	1	9002	610	22	4		4	LY6G5B	6	31672171	Silent	SNP	C	C3N-00580_TP	971587	31672171	139133808	378	19838											
TNXB	0	.	GRCh38	chr6	32046289	32046289	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacggtgactgtgcgctggtCtgcggccacaggcactgccc	5	8	14	14	3	1	1	0	1	1	0	1	1	1	1	2	4	4	2	2	4	1	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.10492G>C	p.Asp3498His	p.D3498H	ENST00000375244	31/44	517	412	105	789	789	0	strelka-varscan	TNXB,missense_variant,p.Asp3498His,ENST00000375244,NM_019105.6;TNXB,missense_variant,p.Asp1216His,ENST00000611016,;TNXB,upstream_gene_variant,,ENST00000451343,NM_032470.3;CYP21A2,downstream_gene_variant,,ENST00000418967,NM_000500.7;CYP21A2,downstream_gene_variant,,ENST00000435122,NM_001128590.3;TNXB,non_coding_transcript_exon_variant,,ENST00000490077,;CYP21A2,downstream_gene_variant,,ENST00000479074,;CYP21A2,downstream_gene_variant,,ENST00000479730,;CYP21A2,downstream_gene_variant,,ENST00000486063,;TNXB,upstream_gene_variant,,ENST00000498094,;	G	ENST00000375244	Transcript	missense_variant	10694/13132	10492/12735	3498/4244	D/H	Gac/Cac		1		-1	TNXB	HGNC	HGNC:11976	protein_coding			ENSP00000364393	P22105	E7EPZ9	UPI0001B798E9	NM_019105.6	tolerated(0.08)		31/44		PROSITE_profiles:PS50853,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	62	32046289	32046289	C	G	1	0	0	0	0	1	0	0	0	16820	913	32	4		4	TNXB	6	32046289	Missense_Mutation	SNP	C	C3N-00580_TP	374118	32046289	138759690	379	19839											
TNXB	0	.	GRCh38	chr6	32070324	32070324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggccctcaggaaccgtcCaggagaggcgcagtgagtct	9	6	14	12	2	2	2	1	1	1	1	3	4	3	3	3	4	1	1	3	4	1	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.5081G>T	p.Trp1694Leu	p.W1694L	ENST00000375244	14/44	347	305	42	332	332	0	strelka-varscan	TNXB,missense_variant,p.Trp1694Leu,ENST00000375244,NM_019105.6;TNXB,3_prime_UTR_variant,,ENST00000613214,;	A	ENST00000375244	Transcript	missense_variant	5283/13132	5081/12735	1694/4244	W/L	tGg/tTg		1		-1	TNXB	HGNC	HGNC:11976	protein_coding			ENSP00000364393	P22105	E7EPZ9	UPI0001B798E9	NM_019105.6	deleterious(0.02)		14/44		PROSITE_profiles:PS50853,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	32070324	32070324	C	A	1	0	0	0	0	1	0	0	0	16820	595	21	2		2	TNXB	6	32070324	Missense_Mutation	SNP	C	C3N-00580_TP	24035	32070324	138735655	380	19840											
COL11A2	0	.	GRCh38	chr6	33177020	33177020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtctgagccaggcatgccgGggagccctggcttcccttga	5	8	14	14	2	1	2	0	2	1	0	2	3	2	3	4	4	3	2	4	4	0	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1784C>A	p.Pro595His	p.P595H	ENST00000374708	23/64	450	403	47	659	658	1	strelka-varscan-mutect	COL11A2,missense_variant,p.Pro681His,ENST00000341947,NM_080680.2;COL11A2,missense_variant,p.Pro595His,ENST00000374708,NM_080681.2;COL11A2,missense_variant,p.Pro574His,ENST00000361917,NM_080679.2;COL11A2,downstream_gene_variant,,ENST00000457788,;COL11A2,non_coding_transcript_exon_variant,,ENST00000477772,;	T	ENST00000374708	Transcript	missense_variant	2043/6209	1784/4953	595/1650	P/H	cCc/cAc		1		-1	COL11A2	HGNC	HGNC:2187	protein_coding	YES	CCDS43452.1	ENSP00000363840		Q4VXY6	UPI000013E9A5	NM_080681.2	deleterious(0.03)		23/64		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	33177020	33177020	G	T	1	0	0	0	0	1	0	0	0	3456	1232	43	2		2	COL11A2	6	33177020	Missense_Mutation	SNP	G	C3N-00580_TP	1106696	33177020	137628959	381	19841											
PI16	0	.	GRCh38	chr6	36954839	36954839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacaggccccgttggaGccctcacagatgaggagaaa	12	4	11	14	1	1	3	1	1	0	2	1	5	1	4	5	3	1	1	5	3	1	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.79G>T	p.Ala27Ser	p.A27S	ENST00000373674	1/7	379	330	49	306	306	0	strelka-varscan-mutect	PI16,missense_variant,p.Ala27Ser,ENST00000373674,NM_153370.2;PI16,missense_variant,p.Ala27Ser,ENST00000611814,NM_001199159.1;	T	ENST00000373674	Transcript	missense_variant	407/2190	79/1392	27/463	A/S	Gcc/Tcc		1		1	PI16	HGNC	HGNC:21245	protein_coding	YES	CCDS34440.1	ENSP00000362778	Q6UXB8		UPI000004C657	NM_153370.2	tolerated(0.33)		1/7		Gene3D:3.40.33.10,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF197,Cleavage_site_(Signalp):SignalP-noTM,Superfamily_domains:SSF55797,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	36954839	36954839	G	T	1	0	0	0	0	1	0	0	0	11958	971	34	2		2	PI16	6	36954839	Missense_Mutation	SNP	G	C3N-00580_TP	3777819	36954839	133851140	382	19842											
MDGA1	0	.	GRCh38	chr6	37658317	37658317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttgcagtagtagcggcCgccctgcgtgcgtgcaatac	7	8	13	13	4	0	0	0	0	0	0	0	0	0	0	3	1	7	4	3	1	4	4			C3N-00580_TP	C3N-00580_NB	C	C																c.310G>T	p.Gly104Cys	p.G104C	ENST00000434837	3/17	228	182	46	219	219	0	strelka-varscan-mutect	MDGA1,missense_variant,p.Gly104Cys,ENST00000434837,NM_153487.3;MDGA1,missense_variant,p.Gly104Cys,ENST00000505425,;MDGA1,missense_variant,p.Gly48Cys,ENST00000515437,;MDGA1,missense_variant,p.Gly48Cys,ENST00000508399,;MDGA1,non_coding_transcript_exon_variant,,ENST00000478143,;	A	ENST00000434837	Transcript	missense_variant	1489/10736	310/2868	104/955	G/C	Ggc/Tgc	COSM1444173,COSM5160270	1		-1	MDGA1	HGNC	HGNC:19267	protein_coding	YES	CCDS47417.1	ENSP00000402584	Q8NFP4		UPI0000071D28	NM_153487.3	tolerated(0.17)		3/17		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF66,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	62	37658317	37658317	C	A	1	0	0	0	0	1	0	0	0	9344	652	23	1		1	MDGA1	6	37658317	Missense_Mutation	SNP	C	C3N-00580_TP	703478	37658317	133147662	383	19843											
GLP1R	0	.	GRCh38	chr6	39085933	39085933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggaatttcggaagagctggGagcgctggcggcttgagcac	8	8	17	8	3	0	2	0	1	0	1	1	5	0	5	0	5	3	4	0	5	2	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1252G>A	p.Glu418Lys	p.E418K	ENST00000373256	13/13	232	176	56	215	215	0	strelka-varscan-mutect	GLP1R,missense_variant,p.Glu418Lys,ENST00000373256,NM_002062.3;	A	ENST00000373256	Transcript	missense_variant	1295/3105	1252/1392	418/463	E/K	Gag/Aag		1		1	GLP1R	HGNC	HGNC:4324	protein_coding	YES	CCDS4839.1	ENSP00000362353	P43220		UPI0000061F20	NM_002062.3	tolerated(0.78)		13/13		hmmpanther:PTHR12011:SF245,hmmpanther:PTHR12011,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	39085933	39085933	G	A	1	0	0	0	0	1	0	0	0	6331	1175	41	3		3	GLP1R	6	39085933	Missense_Mutation	SNP	G	C3N-00580_TP	1427616	39085933	131720046	384	19844											
LRFN2	0	.	GRCh38	chr6	40432457	40432457	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagccgaagcctgggagcgGgcaaagatgggatcaggggg	12	3	19	7	2	1	1	1	0	0	1	1	4	1	3	2	5	3	1	2	5	3	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.657C>T	p.=	p.A219A	ENST00000338305	2/3	470	256	214	272	272	0	strelka-varscan-mutect	LRFN2,synonymous_variant,p.=,ENST00000338305,NM_020737.2;	A	ENST00000338305	Transcript	synonymous_variant	1200/3270	657/2370	219/789	A	gcC/gcT		1		-1	LRFN2	HGNC	HGNC:21226	protein_coding	YES	CCDS34443.1	ENSP00000345985	Q9ULH4		UPI00001C1E47	NM_020737.2			2/3		PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	40432457	40432457	G	A	1	0	0	0	0	0	0	0	1	8832	1219	43	3		3	LRFN2	6	40432457	Silent	SNP	G	C3N-00580_TP	1346524	40432457	130373522	385	19845											
LRFN2	0	.	GRCh38	chr6	40432667	40432667	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccagatcctccaatgtCagcaggaagtcctcaaaagc	13	7	9	12	0	2	1	2	0	0	1	6	2	6	2	4	2	2	1	4	2	4	0	rs762137082		C3N-00580_TP	C3N-00580_NB	C	C																c.447G>T	p.=	p.L149L	ENST00000338305	2/3	625	472	153	499	499	0	strelka-varscan-mutect	LRFN2,synonymous_variant,p.=,ENST00000338305,NM_020737.2;	A	ENST00000338305	Transcript	synonymous_variant	990/3270	447/2370	149/789	L	ctG/ctT	rs762137082	1		-1	LRFN2	HGNC	HGNC:21226	protein_coding	YES	CCDS34443.1	ENSP00000345985	Q9ULH4		UPI00001C1E47	NM_020737.2			2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		rs762137082	.												A	2	1	62	40432667	40432667	C	A	1	0	0	0	0	0	0	0	1	8832	813	29	2		2	LRFN2	6	40432667	Silent	SNP	C	C3N-00580_TP	210	40432667	130373312	386	19846											
CUL9	0	.	GRCh38	chr6	43203960	43203960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgggaggccctggtcagcCccctggtgcagaacatcacc	7	6	13	15	0	2	1	2	0	0	1	2	2	2	2	4	4	3	2	4	4	1	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.4132C>G	p.Pro1378Ala	p.P1378A	ENST00000252050	20/41	157	136	21	114	114	0	strelka-varscan-mutect	CUL9,missense_variant,p.Pro1378Ala,ENST00000252050,NM_015089.3;CUL9,missense_variant,p.Pro1378Ala,ENST00000372647,;CUL9,upstream_gene_variant,,ENST00000502937,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,non_coding_transcript_exon_variant,,ENST00000515344,;CUL9,upstream_gene_variant,,ENST00000502719,;CUL9,upstream_gene_variant,,ENST00000512408,;CUL9,upstream_gene_variant,,ENST00000504485,;CUL9,upstream_gene_variant,,ENST00000505172,;	G	ENST00000252050	Transcript	missense_variant	4216/7780	4132/7554	1378/2517	P/A	Ccc/Gcc		1		1	CUL9	HGNC	HGNC:15982	protein_coding	YES	CCDS4890.1	ENSP00000252050	Q8IWT3		UPI000006F22F	NM_015089.3	deleterious(0)		20/41		hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771,Pfam_domain:PF00888,Gene3D:1.25.10.10																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	62	43203960	43203960	C	G	1	0	0	0	0	1	0	0	0	3871	623	22	4		4	CUL9	6	43203960	Missense_Mutation	SNP	C	C3N-00580_TP	2771293	43203960	127602019	387	19847											
SLC22A7	0	.	GRCh38	chr6	43301199	43301199	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaagaggcccacaggtacTtgctccactgtgccaggctc	9	8	11	13	0	0	2	0	1	0	1	2	2	1	2	3	3	3	3	3	3	2	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.892T>A	p.Leu298Met	p.L298M	ENST00000372585	6/11	501	378	123	486	486	0	strelka-varscan-mutect	SLC22A7,missense_variant,p.Leu298Met,ENST00000372585,NM_153320.2;SLC22A7,missense_variant,p.Leu296Met,ENST00000372589,NM_006672.3;SLC22A7,missense_variant,p.Leu296Met,ENST00000372574,;CRIP3,intron_variant,,ENST00000416431,;CRIP3,downstream_gene_variant,,ENST00000372569,NM_206922.2;SLC22A7,downstream_gene_variant,,ENST00000449231,;SLC22A7,downstream_gene_variant,,ENST00000451757,;CRIP3,downstream_gene_variant,,ENST00000274990,;SLC22A7,upstream_gene_variant,,ENST00000436107,;CRIP3,downstream_gene_variant,,ENST00000451294,;SLC22A7,non_coding_transcript_exon_variant,,ENST00000487175,;SLC22A7,downstream_gene_variant,,ENST00000480882,;SLC22A7,downstream_gene_variant,,ENST00000498232,;CRIP3,downstream_gene_variant,,ENST00000477866,;	A	ENST00000372585	Transcript	missense_variant	987/2555	892/1647	298/548	L/M	Ttg/Atg		1		1	SLC22A7	HGNC	HGNC:10971	protein_coding	YES	CCDS4893.2	ENSP00000361666	Q9Y694		UPI000006F307	NM_153320.2	deleterious(0)		6/11		Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF33,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00898																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	62	43301199	43301199	T	A	1	0	0	0	0	1	0	0	0	14725	1606	56	4		4	SLC22A7	6	43301199	Missense_Mutation	SNP	T	C3N-00580_TP	97239	43301199	127504780	388	19848											
POLH	0	.	GRCh38	chr6	43597799	43597799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagcagtgattgtggaGgaaatgagagcagccataga	13	7	17	4	0	0	3	0	2	0	2	0	7	0	6	1	3	3	2	1	3	2	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.594G>T	p.Glu198Asp	p.E198D	ENST00000372236	5/11	562	294	268	348	348	0	strelka-varscan-mutect	POLH,missense_variant,p.Glu198Asp,ENST00000372236,NM_006502.2;POLH,missense_variant,p.Glu198Asp,ENST00000372226,NM_001291970.1;	T	ENST00000372236	Transcript	missense_variant	889/3540	594/2142	198/713	E/D	gaG/gaT		1		1	POLH	HGNC	HGNC:9181	protein_coding	YES	CCDS4902.1	ENSP00000361310	Q9Y253	A0A024RD62	UPI000006F8FD	NM_006502.2	deleterious(0)		5/11		PROSITE_profiles:PS50173,hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF11,PIRSF_domain:PIRSF036603,Gene3D:3.30.70.270,Pfam_domain:PF00817,Superfamily_domains:SSF56672																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	43597799	43597799	G	T	1	0	0	0	0	1	0	0	0	12312	991	35	2		2	POLH	6	43597799	Missense_Mutation	SNP	G	C3N-00580_TP	296600	43597799	127208180	389	19849											
TMEM151B	0	.	GRCh38	chr6	44275556	44275556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttcagtttcgccagcgtgGaggccgagaacgcgtacctg	7	8	14	12	5	1	1	1	0	0	1	2	3	1	2	3	2	3	3	3	2	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.730G>A	p.Glu244Lys	p.E244K	ENST00000451188	3/3	365	230	135	286	286	0	strelka-varscan-mutect	TMEM151B,missense_variant,p.Glu244Lys,ENST00000451188,NM_001137560.1;TMEM151B,intron_variant,,ENST00000438774,;TCTE1,downstream_gene_variant,,ENST00000371505,NM_182539.3;TCTE1,downstream_gene_variant,,ENST00000371504,;RP11-444E17.6,intron_variant,,ENST00000505802,;	A	ENST00000451188	Transcript	missense_variant	1007/4895	730/1701	244/566	E/K	Gag/Aag		1		1	TMEM151B	HGNC	HGNC:21315	protein_coding	YES	CCDS47437.1	ENSP00000393161	Q8IW70		UPI00006C0A4E	NM_001137560.1	tolerated(0.06)		3/3		Pfam_domain:PF14857,hmmpanther:PTHR31893,hmmpanther:PTHR31893:SF4																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	62	44275556	44275556	G	A	1	0	0	0	0	1	0	0	0	16513	1175	41	3		3	TMEM151B	6	44275556	Missense_Mutation	SNP	G	C3N-00580_TP	677757	44275556	126530423	390	19850											
PLA2G7	0	.	GRCh38	chr6	46709363	46709363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactaagagtctgaataaccGttgctccaccaaaagaatgt	15	9	7	10	1	1	3	0	1	1	2	2	3	2	3	3	0	2	2	3	0	6	3	rs147252565		C3N-00580_TP	C3N-00580_NB	G	G																c.833C>T	p.Thr278Met	p.T278M	ENST00000274793	9/12	305	284	21	329	329	0	strelka-varscan-mutect	PLA2G7,missense_variant,p.Thr278Met,ENST00000274793,NM_005084.3;PLA2G7,missense_variant,p.Thr278Met,ENST00000537365,NM_001168357.1;	A	ENST00000274793	Transcript	missense_variant	1030/1882	833/1326	278/441	T/M	aCg/aTg	rs147252565	1		-1	PLA2G7	HGNC	HGNC:9040	protein_coding	YES	CCDS4917.1	ENSP00000274793	Q13093		UPI000002FED1	NM_005084.3	deleterious(0)		9/12		Gene3D:3.40.50.1820,Pfam_domain:PF03403,PIRSF_domain:PIRSF018169,hmmpanther:PTHR10272,hmmpanther:PTHR10272:SF12,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		rs147252565	.												A	3	1	62	46709363	46709363	G	A	1	0	0	0	0	1	0	0	0	12105	1145	40	1		1	PLA2G7	6	46709363	Missense_Mutation	SNP	G	C3N-00580_TP	2433807	46709363	124096616	391	19851											
PKHD1	0	.	GRCh38	chr6	52050295	52050295	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccagaatcagcttgagaaActagagaccagtgatccaat	15	9	8	9	0	1	4	1	2	0	3	3	6	3	4	3	0	2	1	3	0	4	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.2141T>G	p.Val714Gly	p.V714G	ENST00000371117	22/67	783	738	45	560	560	0	strelka-varscan-mutect	PKHD1,missense_variant,p.Val714Gly,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Val714Gly,ENST00000340994,NM_170724.2;	C	ENST00000371117	Transcript	missense_variant,splice_region_variant	2417/16282	2141/12225	714/4074	V/G	gTt/gGt		1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3	deleterious(0)		22/67																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	52050295	52050295	A	C	1	0	0	0	0	1	0	0	0	12067	57	2	5		5	PKHD1	6	52050295	Missense_Mutation	SNP	A	C3N-00580_TP	5340932	52050295	118755684	392	19852											
FAM83B	0	.	GRCh38	chr6	54940713	54940713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagacacctaaagaggtccCagacacccctacgaatgtac	14	6	8	13	1	0	3	0	1	0	3	1	5	1	3	4	1	2	1	4	1	5	3	rs201414733		C3N-00580_TP	C3N-00580_NB	C	C																c.1742C>A	p.Pro581Gln	p.P581Q	ENST00000306858	5/5	288	203	85	210	210	0	strelka-varscan-mutect	FAM83B,missense_variant,p.Pro581Gln,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;	A	ENST00000306858	Transcript	missense_variant	1858/3167	1742/3036	581/1011	P/Q	cCa/cAa	rs201414733	1		1	FAM83B	HGNC	HGNC:21357	protein_coding	YES	CCDS34479.1	ENSP00000304078	Q5T0W9		UPI00001D81EC	NM_001010872.2	tolerated(0.1)		5/5		hmmpanther:PTHR16181:SF4,hmmpanther:PTHR16181																	MODERATE	1	SNV	1			1										PASS		rs201414733	.												A	3	1	62	54940713	54940713	C	A	1	0	0	0	0	1	0	0	0	5492	594	21	2		2	FAM83B	6	54940713	Missense_Mutation	SNP	C	C3N-00580_TP	2890418	54940713	115865266	393	19853											
ZNF451	0	.	GRCh38	chr6	57148424	57148424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtgcacaaagaaaagaGtgatgaggaggagcagcagt	17	5	14	5	0	1	4	1	2	0	2	1	6	1	6	0	2	3	3	0	2	4	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2339G>T	p.Ser780Ile	p.S780I	ENST00000370706	10/15	419	246	173	239	238	1	strelka-varscan	ZNF451,missense_variant,p.Ser780Ile,ENST00000370706,NM_001031623.2;ZNF451,missense_variant,p.Ser780Ile,ENST00000357489,NM_015555.2;ZNF451,missense_variant,p.Ser780Ile,ENST00000491832,;RP11-203B9.4,intron_variant,,ENST00000416069,;RP11-203B9.4,intron_variant,,ENST00000586432,;RP11-203B9.4,intron_variant,,ENST00000592038,;RP11-203B9.4,intron_variant,,ENST00000588811,;RP11-203B9.4,intron_variant,,ENST00000589549,;RP11-203B9.4,intron_variant,,ENST00000586053,;RP11-203B9.4,intron_variant,,ENST00000586668,;RP11-203B9.4,intron_variant,,ENST00000591553,;RP11-203B9.4,intron_variant,,ENST00000587815,;RP11-203B9.4,intron_variant,,ENST00000585792,;RP11-203B9.4,intron_variant,,ENST00000592500,;RP11-203B9.4,downstream_gene_variant,,ENST00000589263,;RP11-203B9.4,downstream_gene_variant,,ENST00000586466,;ZNF451,non_coding_transcript_exon_variant,,ENST00000444273,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,upstream_gene_variant,,ENST00000508548,;	T	ENST00000370706	Transcript	missense_variant	2583/5268	2339/3186	780/1061	S/I	aGt/aTt		1		1	ZNF451	HGNC	HGNC:21091	protein_coding	YES	CCDS43477.1	ENSP00000359740	Q9Y4E5		UPI000004A571	NM_001031623.2	tolerated(0.21)		10/15		hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	57148424	57148424	G	T	1	0	0	0	0	1	0	0	0	18493	1029	36	2		2	ZNF451	6	57148424	Missense_Mutation	SNP	G	C3N-00580_TP	2207711	57148424	113657555	394	19854											
EYS	0	.	GRCh38	chr6	63789115	63789115	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgtggactccaaggctCagattgaggggctcgctcct	8	9	13	11	1	1	2	1	1	0	1	4	3	3	3	2	4	0	3	2	4	1	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.7521G>T	p.=	p.L2507L	ENST00000370621	38/44	301	195	106	193	193	0	strelka-varscan	EYS,synonymous_variant,p.=,ENST00000503581,NM_001142800.1;EYS,synonymous_variant,p.=,ENST00000370621,NM_001292009.1;EYS,synonymous_variant,p.=,ENST00000398580,;EYS,non_coding_transcript_exon_variant,,ENST00000486069,;	A	ENST00000370621	Transcript	synonymous_variant	8048/10485	7521/9498	2507/3165	L	ctG/ctT		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1			38/44		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,SMART_domains:SM00282,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	63789115	63789115	C	A	1	0	0	0	0	0	0	0	1	5200	813	29	2		2	EYS	6	63789115	Silent	SNP	C	C3N-00580_TP	6640691	63789115	107016864	395	19855											
EYS	0	.	GRCh38	chr6	63864282	63864282	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccatttccacatgggtTgttttcacaacttgcaaact	10	13	7	11	0	1	0	1	0	0	0	2	0	2	0	2	2	3	4	2	2	2	5	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.7132A>C	p.Asn2378His	p.N2378H	ENST00000370621	36/44	194	134	60	138	138	0	strelka-varscan	EYS,missense_variant,p.Asn2378His,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Asn2378His,ENST00000370621,NM_001292009.1;EYS,missense_variant,p.Asn150His,ENST00000398580,;	G	ENST00000370621	Transcript	missense_variant	7659/10485	7132/9498	2378/3165	N/H	Aac/Cac		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	deleterious(0.01)		36/44		PROSITE_profiles:PS50026,hmmpanther:PTHR24033,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	63864282	63864282	T	G	1	0	0	0	0	1	0	0	0	5200	1812	63	5		5	EYS	6	63864282	Missense_Mutation	SNP	T	C3N-00580_TP	75167	63864282	106941697	396	19856											
COL12A1	0	.	GRCh38	chr6	75124053	75124053	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccagtgaagcagtgacTggtttctgatccacgcactg	10	9	12	10	1	1	3	0	3	1	0	2	3	2	3	2	2	1	3	2	2	2	1	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.6766A>T	p.Ser2256Cys	p.S2256C	ENST00000322507	42/66	174	109	65	118	118	0	strelka-varscan-mutect	COL12A1,missense_variant,p.Ser2256Cys,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Ser1067Cys,ENST00000615798,;COL12A1,missense_variant,p.Ser2256Cys,ENST00000483888,;COL12A1,missense_variant,p.Ser2256Cys,ENST00000416123,;COL12A1,missense_variant,p.Ser1092Cys,ENST00000345356,NM_080645.2;COL12A1,upstream_gene_variant,,ENST00000425443,;COL12A1,upstream_gene_variant,,ENST00000493109,;	A	ENST00000322507	Transcript	missense_variant	7076/11723	6766/9192	2256/3063	S/C	Agt/Tgt		1		-1	COL12A1	HGNC	HGNC:2188	protein_coding	YES	CCDS43482.1	ENSP00000325146	Q99715		UPI000045890B	NM_004370.5	deleterious(0)		42/66		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	75124053	75124053	T	A	1	0	0	0	0	1	0	0	0	3457	1580	55	4		4	COL12A1	6	75124053	Missense_Mutation	SNP	T	C3N-00580_TP	11259771	75124053	95681926	397	19857											
PHIP	0	.	GRCh38	chr6	78963134	78963134	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttattcctgccacaattctTtcacattcttcatccctggg	7	17	4	13	0	4	0	2	0	2	0	6	0	6	0	3	1	1	0	3	1	2	7	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.3498A>T	p.Glu1166Asp	p.E1166D	ENST00000275034	30/40	87	73	14	107	107	0	varscan-mutect	PHIP,missense_variant,p.Glu1166Asp,ENST00000275034,NM_017934.5;PHIP,non_coding_transcript_exon_variant,,ENST00000479165,;	A	ENST00000275034	Transcript	missense_variant	3666/10460	3498/5466	1166/1821	E/D	gaA/gaT		1		-1	PHIP	HGNC	HGNC:15673	protein_coding	YES	CCDS4987.1	ENSP00000275034	Q8WWQ0		UPI000013DA40	NM_017934.5	tolerated(0.2)		30/40		Gene3D:1.20.920.10,Pfam_domain:PF00439,hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF4,SMART_domains:SM00297,Superfamily_domains:SSF47370																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	78963134	78963134	T	A	1	0	0	0	0	1	0	0	0	11930	1838	64	4		4	PHIP	6	78963134	Missense_Mutation	SNP	T	C3N-00580_TP	3839081	78963134	91842845	398	19858											
RRAGD	0	.	GRCh38	chr6	89387592	89387592	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcactgaagtccagaacTggagaaaccacaaaatgaga	17	5	11	8	0	1	4	1	2	0	3	2	6	2	4	2	2	2	0	2	2	5	0	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.149-2A>T		p.X50_splice	ENST00000369415		73	57	16	69	69	0	strelka-varscan-mutect	RRAGD,splice_acceptor_variant,,ENST00000369415,NM_021244.4;RRAGD,intron_variant,,ENST00000359203,;RRAGD,splice_acceptor_variant,,ENST00000492783,;	A	ENST00000369415	Transcript	splice_acceptor_variant	-/4900	149/1203	50/400				1		-1	RRAGD	HGNC	HGNC:19903	protein_coding	YES	CCDS5022.1	ENSP00000358423	Q9NQL2		UPI000006E549	NM_021244.4				1/6																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	62	89387592	89387592	T	A	1	0	0	0	0	0	0	1	0	13929	1594	55	4		4	RRAGD	6	89387592	Splice_Site	SNP	T	C3N-00580_TP	10424458	89387592	81418387	399	19859											
MDN1	0	.	GRCh38	chr6	89719144	89719144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtctccttacctgaacatCatagggagtgatacgaaata	14	11	8	8	1	2	2	1	2	1	0	3	4	2	3	2	1	3	0	2	1	7	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.6049G>T	p.Asp2017Tyr	p.D2017Y	ENST00000369393	41/102	181	80	101	215	215	0	strelka-varscan-mutect	MDN1,missense_variant,p.Asp2017Tyr,ENST00000369393,NM_014611.2;MDN1,missense_variant,p.Asp2017Tyr,ENST00000629399,;	A	ENST00000369393	Transcript	missense_variant	6165/18413	6049/16791	2017/5596	D/Y	Gat/Tat		1		-1	MDN1	HGNC	HGNC:18302	protein_coding	YES	CCDS5024.1	ENSP00000358400	Q9NU22		UPI000013C4B8	NM_014611.2	deleterious(0.04)		41/102		hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF64																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	89719144	89719144	C	A	1	0	0	0	0	1	0	0	0	9353	826	29	2		2	MDN1	6	89719144	Missense_Mutation	SNP	C	C3N-00580_TP	331552	89719144	81086835	400	19860											
EPHA7	0	.	GRCh38	chr6	93410800	93410800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagatagaatccctttttgGacaaaggtccaatctctctc	12	12	6	11	0	2	2	0	0	2	2	6	3	4	3	2	2	0	0	2	2	5	3			C3N-00580_TP	C3N-00580_NB	G	G																c.533C>A	p.Ser178Tyr	p.S178Y	ENST00000369303	3/17	117	65	52	123	122	1	strelka-varscan-mutect	EPHA7,missense_variant,p.Ser178Tyr,ENST00000369303,NM_001288629.1,NM_004440.3;EPHA7,missense_variant,p.Ser178Tyr,ENST00000369297,NM_001288630.1;	T	ENST00000369303	Transcript	missense_variant	718/6588	533/2997	178/998	S/Y	tCc/tAc	COSM5405977,COSM5405978	1		-1	EPHA7	HGNC	HGNC:3390	protein_coding	YES	CCDS5031.1	ENSP00000358309	Q15375		UPI0000044771	NM_001288629.1,NM_004440.3	deleterious(0.01)		3/17		Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF377,SMART_domains:SM00615,Superfamily_domains:SSF49785											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	62	93410800	93410800	G	T	1	0	0	0	0	1	0	0	0	5019	1174	41	2		2	EPHA7	6	93410800	Missense_Mutation	SNP	G	C3N-00580_TP	3691656	93410800	77395179	401	19861											
FHL5	0	.	GRCh38	chr6	96610682	96610682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagttcatgtccagagaCgactatccattctgcgtgga	11	10	10	10	2	2	1	1	0	1	1	4	5	4	2	2	1	2	1	2	1	2	3	rs61732222		C3N-00580_TP	C3N-00580_NB	C	C																c.615C>A	p.Asp205Glu	p.D205E	ENST00000326771	6/7	164	137	27	209	209	0	strelka-varscan-mutect	FHL5,missense_variant,p.Asp205Glu,ENST00000326771,NM_020482.4;FHL5,missense_variant,p.Asp205Glu,ENST00000541107,NM_001170807.1;FHL5,missense_variant,p.Asp205Glu,ENST00000450218,;	A	ENST00000326771	Transcript	missense_variant	995/2031	615/855	205/284	D/E	gaC/gaA	rs61732222	1		1	FHL5	HGNC	HGNC:17371	protein_coding	YES	CCDS5035.1	ENSP00000326022	Q5TD97		UPI000006F158	NM_020482.4	tolerated(0.35)		6/7		PROSITE_profiles:PS50023,hmmpanther:PTHR24205:SF7,hmmpanther:PTHR24205,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		rs61732222	.												A	3	1	62	96610682	96610682	C	A	1	0	0	0	0	1	0	0	0	5746	535	19	1		1	FHL5	6	96610682	Missense_Mutation	SNP	C	C3N-00580_TP	3199882	96610682	74195297	402	19862											
ASCC3	0	.	GRCh38	chr6	100650703	100650703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatctaactcctctatttcCtcttctctgacctagaagaa	10	15	4	12	0	4	3	0	1	4	2	7	3	6	3	3	0	1	1	3	0	6	6	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.3087G>T	p.Glu1029Asp	p.E1029D	ENST00000369162	20/42	114	65	49	197	197	0	strelka-varscan-mutect	ASCC3,missense_variant,p.Glu1029Asp,ENST00000369162,NM_006828.3;ASCC3,3_prime_UTR_variant,,ENST00000324696,;	A	ENST00000369162	Transcript	missense_variant	3432/8146	3087/6609	1029/2202	E/D	gaG/gaT		1		-1	ASCC3	HGNC	HGNC:18697	protein_coding	YES	CCDS5046.1	ENSP00000358159	Q8N3C0		UPI000014145A	NM_006828.3	tolerated(0.95)		20/42		Gene3D:2q0zX01,Pfam_domain:PF02889,PIRSF_domain:PIRSF039073,SMART_domains:SM00973,Superfamily_domains:SSF158702																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	100650703	100650703	C	A	1	0	0	0	0	1	0	0	0	1175	680	24	2		2	ASCC3	6	100650703	Missense_Mutation	SNP	C	C3N-00580_TP	4040021	100650703	70155276	403	19863											
ASCC3	0	.	GRCh38	chr6	100800299	100800299	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagctcctggcttttattaCctttgtatccgcaattcctt	6	18	5	12	1	1	0	1	0	0	0	4	0	4	0	4	1	2	4	4	1	4	7	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1127+1G>C		p.X376_splice	ENST00000369162		241	183	58	326	326	0	strelka-varscan-mutect	ASCC3,splice_donor_variant,,ENST00000369162,NM_006828.3;ASCC3,splice_donor_variant,,ENST00000522650,NM_001284271.1;ASCC3,splice_donor_variant,,ENST00000324696,;	G	ENST00000369162	Transcript	splice_donor_variant	-/8146	1127/6609	376/2202				1		-1	ASCC3	HGNC	HGNC:18697	protein_coding	YES	CCDS5046.1	ENSP00000358159	Q8N3C0		UPI000014145A	NM_006828.3				6/41																		HIGH	1	SNV	5			1										PASS		.	.												G	5	3	62	100800299	100800299	C	G	1	0	0	0	0	0	0	1	0	1175	521	18	4		4	ASCC3	6	100800299	Splice_Site	SNP	C	C3N-00580_TP	149596	100800299	70005680	404	19864											
DSE	0	.	GRCh38	chr6	116436926	116436926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaaacgctataaatttgtgGatgctgtccctgatattttt	10	16	8	7	1	0	1	0	1	0	0	1	2	1	2	1	1	2	3	1	1	5	6	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2458G>T	p.Asp820Tyr	p.D820Y	ENST00000452085	6/6	185	98	87	246	244	2	strelka-varscan-mutect	DSE,missense_variant,p.Asp820Tyr,ENST00000452085,NM_001080976.1;DSE,missense_variant,p.Asp820Tyr,ENST00000331677,;DSE,missense_variant,p.Asp820Tyr,ENST00000359564,NM_013352.2;DSE,non_coding_transcript_exon_variant,,ENST00000606712,;	T	ENST00000452085	Transcript	missense_variant	2652/10586	2458/2877	820/958	D/Y	Gat/Tat		1		1	DSE	HGNC	HGNC:21144	protein_coding	YES	CCDS5107.1	ENSP00000404049	Q9UL01		UPI0000073CB8	NM_001080976.1	deleterious_low_confidence(0)		6/6		hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	116436926	116436926	G	T	1	0	0	0	0	1	0	0	0	4595	1174	41	2		2	DSE	6	116436926	Missense_Mutation	SNP	G	C3N-00580_TP	15636627	116436926	54369053	405	19865											
ROS1	0	.	GRCh38	chr6	117344107	117344107	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcctgtcattaacttCtgcataataaaccaggtatg	11	16	6	8	0	2	0	1	0	1	0	3	0	3	0	2	1	3	3	2	1	5	7	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.4477G>T	p.Glu1493Ter	p.E1493*	ENST00000368508	27/43	242	133	109	252	252	0	strelka-varscan-mutect	ROS1,stop_gained,p.Glu1493Ter,ENST00000368508,NM_002944.2;ROS1,stop_gained,p.Glu1487Ter,ENST00000368507,;RP1-179P9.3,intron_variant,,ENST00000467125,;	A	ENST00000368508	Transcript	stop_gained	4676/7435	4477/7044	1493/2347	E/*	Gaa/Taa		1		-1	ROS1	HGNC	HGNC:10261	protein_coding	YES	CCDS5116.1	ENSP00000357494	P08922		UPI000013D467	NM_002944.2			27/43		PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	62	117344107	117344107	C	A	1	0	0	0	0	0	1	0	0	13708	922	32	2		2	ROS1	6	117344107	Nonsense_Mutation	SNP	C	C3N-00580_TP	907181	117344107	53461872	406	19866											
HSF2	0	.	GRCh38	chr6	122423675	122423675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttagcatagacccagatCtcctggttgatgtaggtact	11	13	9	8	0	1	3	0	1	1	2	2	3	1	3	2	2	2	4	2	2	5	6	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1165C>A	p.Leu389Ile	p.L389I	ENST00000368455	10/13	75	60	15	96	96	0	strelka-varscan	HSF2,missense_variant,p.Leu389Ile,ENST00000452194,NM_001135564.1;HSF2,missense_variant,p.Leu389Ile,ENST00000368455,NM_004506.3;HSF2,missense_variant,p.Leu160Ile,ENST00000465214,;	A	ENST00000368455	Transcript	missense_variant	1357/2549	1165/1611	389/536	L/I	Ctc/Atc		1		1	HSF2	HGNC	HGNC:5225	protein_coding	YES	CCDS5124.1	ENSP00000357440	Q03933		UPI000012CCE8	NM_004506.3	tolerated(0.57)		10/13		hmmpanther:PTHR10015:SF185,hmmpanther:PTHR10015,Pfam_domain:PF06546																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	122423675	122423675	C	A	1	0	0	0	0	1	0	0	0	7290	913	32	2		2	HSF2	6	122423675	Missense_Mutation	SNP	C	C3N-00580_TP	5079568	122423675	48382304	407	19867											
LAMA2	0	.	GRCh38	chr6	128883343	128883343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcggcagtcacaggCacatcagcaaagaggtacag	14	3	13	11	1	2	1	2	0	0	1	2	1	2	1	0	3	4	6	0	3	2	1	rs750280423		C3N-00580_TP	C3N-00580_NB	C	C																c.98C>A	p.Ala33Glu	p.A33E	ENST00000421865	1/65	334	193	141	438	438	0	strelka-varscan	LAMA2,missense_variant,p.Ala33Glu,ENST00000618192,;LAMA2,missense_variant,p.Ala33Glu,ENST00000617695,;LAMA2,missense_variant,p.Ala33Glu,ENST00000421865,NM_001079823.1,NM_000426.3;LAMA2,non_coding_transcript_exon_variant,,ENST00000466230,;	A	ENST00000421865	Transcript	missense_variant	147/9640	98/9369	33/3122	A/E	gCa/gAa	rs750280423,COSM1634478	1		1	LAMA2	HGNC	HGNC:6482	protein_coding	YES	CCDS5138.1	ENSP00000400365	P24043		UPI00003673E0	NM_001079823.1,NM_000426.3	tolerated(0.28)		1/65		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF291,Low_complexity_(Seg):seg,SMART_domains:SM00136											0,1						MODERATE	1	SNV	5		0,1	1										PASS		.	.												A	3	1	62	128883343	128883343	C	A	1	0	0	0	0	1	0	0	0	8510	710	25	2		2	LAMA2	6	128883343	Missense_Mutation	SNP	C	C3N-00580_TP	6459668	128883343	41922636	408	19868											
LAMA2	0	.	GRCh38	chr6	129192833	129192833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctactactggagcgcgccgGctccctatctgggaaacaaa	10	7	11	13	3	1	0	0	0	1	0	2	2	2	2	2	3	4	2	2	3	5	3			C3N-00580_TP	C3N-00580_NB	G	G																c.1762G>T	p.Ala588Ser	p.A588S	ENST00000421865	12/65	307	208	99	302	301	1	strelka-varscan	LAMA2,missense_variant,p.Ala588Ser,ENST00000618192,;LAMA2,missense_variant,p.Ala588Ser,ENST00000617695,;LAMA2,missense_variant,p.Ala588Ser,ENST00000421865,NM_001079823.1,NM_000426.3;	T	ENST00000421865	Transcript	missense_variant	1811/9640	1762/9369	588/3122	A/S	Gct/Tct	LAMA2:c.1762delG	1		1	LAMA2	HGNC	HGNC:6482	protein_coding	YES	CCDS5138.1	ENSP00000400365	P24043		UPI00003673E0	NM_001079823.1,NM_000426.3	tolerated(0.6)		12/65		Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF291,SMART_domains:SM00281																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	129192833	129192833	G	T	1	0	0	0	0	1	0	0	0	8510	1203	42	2		2	LAMA2	6	129192833	Missense_Mutation	SNP	G	C3N-00580_TP	309490	129192833	41613146	409	19869											
TCF21	0	.	GRCh38	chr6	133891783	133891783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaccgcgagccgcttatGtggaaccaccgcgtcctgac	7	7	13	14	5	0	2	0	2	0	0	1	4	1	3	5	2	2	1	5	2	2	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.521G>A	p.Cys174Tyr	p.C174Y	ENST00000367882	2/2	265	189	76	270	270	0	strelka-varscan	TCF21,missense_variant,p.Cys174Tyr,ENST00000367882,NM_003206.3;TCF21,missense_variant,p.Cys174Tyr,ENST00000237316,NM_198392.2;TARID,non_coding_transcript_exon_variant,,ENST00000630728,;TARID,non_coding_transcript_exon_variant,,ENST00000607641,;TARID,non_coding_transcript_exon_variant,,ENST00000630119,;TARID,non_coding_transcript_exon_variant,,ENST00000626104,;TARID,non_coding_transcript_exon_variant,,ENST00000631362,;TARID,non_coding_transcript_exon_variant,,ENST00000607573,;TARID,upstream_gene_variant,,ENST00000607033,;TARID,upstream_gene_variant,,ENST00000606544,;	A	ENST00000367882	Transcript	missense_variant	781/4551	521/540	174/179	C/Y	tGt/tAt		1		1	TCF21	HGNC	HGNC:11632	protein_coding	YES	CCDS5167.1	ENSP00000356857	O43680		UPI0000001290	NM_003206.3	deleterious_low_confidence(0)		2/2		hmmpanther:PTHR23349:SF67,hmmpanther:PTHR23349																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	133891783	133891783	G	A	1	0	0	0	0	1	0	0	0	16098	1377	48	3		3	TCF21	6	133891783	Missense_Mutation	SNP	G	C3N-00580_TP	4698950	133891783	36914196	410	19870											
AHI1	0	.	GRCh38	chr6	135457550	135457550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccacatgaatttttacCattgggtgagaaatcataaa	16	12	6	7	0	2	2	2	2	0	1	2	3	2	2	2	1	2	0	2	1	6	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1095G>T	p.Met365Ile	p.M365I	ENST00000367800	7/27	231	125	106	232	232	0	strelka-varscan	AHI1,missense_variant,p.Met365Ile,ENST00000367800,NM_001134830.1;AHI1,missense_variant,p.Met365Ile,ENST00000457866,NM_017651.4;AHI1,missense_variant,p.Met365Ile,ENST00000265602,NM_001134831.1;AHI1,missense_variant,p.Met365Ile,ENST00000327035,NM_001134832.1;AHI1,missense_variant,p.Met365Ile,ENST00000531788,;	A	ENST00000367800	Transcript	missense_variant	1312/5921	1095/3591	365/1196	M/I	atG/atT		1		-1	AHI1	HGNC	HGNC:21575	protein_coding	YES	CCDS47483.1	ENSP00000356774	Q8N157		UPI00000701FB	NM_001134830.1	tolerated(0.06)		7/27		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF361																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	135457550	135457550	C	A	1	0	0	0	0	1	0	0	0	490	594	21	2		2	AHI1	6	135457550	Missense_Mutation	SNP	C	C3N-00580_TP	1565767	135457550	35348429	411	19871											
BCLAF1	0	.	GRCh38	chr6	136278322	136278322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgttcaaatgtatctttcgGttcctcctgtgatttacttt	7	20	6	8	1	2	1	1	1	1	0	5	1	4	1	2	1	1	3	2	1	3	7	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.559C>A	p.Pro187Thr	p.P187T	ENST00000531224	4/13	126	101	25	116	116	0	strelka-varscan	BCLAF1,missense_variant,p.Pro187Thr,ENST00000531224,NM_014739.2;BCLAF1,missense_variant,p.Pro185Thr,ENST00000353331,NM_001077440.1;BCLAF1,missense_variant,p.Pro187Thr,ENST00000527536,;BCLAF1,missense_variant,p.Pro185Thr,ENST00000527759,NM_001301038.1;BCLAF1,missense_variant,p.Pro187Thr,ENST00000530767,NM_001077441.1;BCLAF1,missense_variant,p.Pro185Thr,ENST00000392348,;BCLAF1,missense_variant,p.Pro187Thr,ENST00000628517,;BCLAF1,missense_variant,p.Pro187Thr,ENST00000529826,;BCLAF1,missense_variant,p.Pro187Thr,ENST00000527613,;BCLAF1,missense_variant,p.Pro185Thr,ENST00000534269,;BCLAF1,missense_variant,p.Pro187Thr,ENST00000532384,;BCLAF1,missense_variant,p.Pro185Thr,ENST00000530429,;BCLAF1,upstream_gene_variant,,ENST00000476194,;BCLAF1,upstream_gene_variant,,ENST00000533621,;BCLAF1,downstream_gene_variant,,ENST00000528229,;	T	ENST00000531224	Transcript	missense_variant	812/7263	559/2763	187/920	P/T	Ccg/Acg		1		-1	BCLAF1	HGNC	HGNC:16863	protein_coding	YES	CCDS5177.1	ENSP00000435210	Q9NYF8		UPI000006FCE7	NM_014739.2	tolerated_low_confidence(0.1)		4/13		Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	136278322	136278322	G	T	1	0	0	0	0	1	0	0	0	1530	1261	44	2		2	BCLAF1	6	136278322	Missense_Mutation	SNP	G	C3N-00580_TP	820772	136278322	34527657	412	19872											
GRM1	0	.	GRCh38	chr6	146029764	146029764	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagagggtggaggccatgTtccacacgttggataagatc	10	9	13	9	1	0	2	0	0	0	2	3	4	2	4	3	4	0	2	3	4	1	3	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.247T>A	p.Phe83Ile	p.F83I	ENST00000361719	2/9	425	206	219	481	481	0	strelka-varscan	GRM1,missense_variant,p.Phe83Ile,ENST00000492807,NM_001278065.1,NM_001278066.1;GRM1,missense_variant,p.Phe83Ile,ENST00000361719,;GRM1,missense_variant,p.Phe83Ile,ENST00000282753,NM_001278064.1;GRM1,missense_variant,p.Phe83Ile,ENST00000355289,NM_001278067.1;GRM1,missense_variant,p.Phe83Ile,ENST00000507907,;GRM1,non_coding_transcript_exon_variant,,ENST00000502405,;GRM1,non_coding_transcript_exon_variant,,ENST00000507005,;	A	ENST00000361719	Transcript	missense_variant	614/6754	247/3585	83/1194	F/I	Ttc/Atc		1		1	GRM1	HGNC	HGNC:4593	protein_coding	YES	CCDS5209.1	ENSP00000354896	Q13255		UPI000013DCFD		deleterious(0.02)		2/9		hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF29,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR00248																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	146029764	146029764	T	A	1	0	0	0	0	1	0	0	0	6678	1725	60	4		4	GRM1	6	146029764	Missense_Mutation	SNP	T	C3N-00580_TP	9751442	146029764	24776215	413	19873											
GRM1	0	.	GRCh38	chr6	146304619	146304619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcattttttagtgatggatGggcagacagagatgaagtca	12	12	13	4	0	1	4	1	2	0	2	1	6	1	5	0	2	1	2	0	2	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.959G>T	p.Trp320Leu	p.W320L	ENST00000361719	4/9	384	312	72	498	498	0	strelka-varscan	GRM1,missense_variant,p.Trp320Leu,ENST00000492807,NM_001278065.1,NM_001278066.1;GRM1,missense_variant,p.Trp320Leu,ENST00000361719,;GRM1,missense_variant,p.Trp320Leu,ENST00000282753,NM_001278064.1;GRM1,missense_variant,p.Trp320Leu,ENST00000355289,NM_001278067.1;GRM1,missense_variant,p.Trp320Leu,ENST00000507907,;	T	ENST00000361719	Transcript	missense_variant	1326/6754	959/3585	320/1194	W/L	tGg/tTg		1		1	GRM1	HGNC	HGNC:4593	protein_coding	YES	CCDS5209.1	ENSP00000354896	Q13255		UPI000013DCFD		deleterious(0)		4/9		hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF29,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	146304619	146304619	G	T	1	0	0	0	0	1	0	0	0	6678	1357	47	2		2	GRM1	6	146304619	Missense_Mutation	SNP	G	C3N-00580_TP	274855	146304619	24501360	414	19874											
SYNE1	0	.	GRCh38	chr6	152220886	152220886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacctcatcatcggcaatgtCcttgtttgtggctgccttca	7	14	8	12	1	3	0	3	0	0	0	5	0	4	0	3	2	2	3	3	2	2	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.21817G>A	p.Asp7273Asn	p.D7273N	ENST00000367255	119/146	476	262	214	517	517	0	strelka-varscan	SYNE1,missense_variant,p.Asp7273Asn,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Asp7202Asn,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Asp6868Asn,ENST00000341594,;SYNE1,missense_variant,p.Asp195Asn,ENST00000367251,;SYNE1,upstream_gene_variant,,ENST00000367257,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;	T	ENST00000367255	Transcript	missense_variant	22419/27748	21817/26394	7273/8797	D/N	Gac/Aac		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			119/146		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	152220886	152220886	C	T	1	0	0	0	0	1	0	0	0	15837	855	30	3		3	SYNE1	6	152220886	Missense_Mutation	SNP	C	C3N-00580_TP	5916267	152220886	18585093	415	19875											
TAGAP	0	.	GRCh38	chr6	159039310	159039310	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggagcttatctgcaaccCtggaataaagtgaagggatg	12	8	15	6	0	1	1	0	1	1	0	1	4	1	4	1	4	3	2	1	4	6	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.588-1G>T		p.X196_splice	ENST00000367066		195	150	45	222	222	0	strelka-varscan-mutect	TAGAP,splice_acceptor_variant,,ENST00000367066,NM_054114.4;TAGAP,splice_acceptor_variant,,ENST00000326965,NM_152133.2;TAGAP,splice_acceptor_variant,,ENST00000338313,NM_138810.3;RP1-111C20.4,intron_variant,,ENST00000607391,;RP1-111C20.4,intron_variant,,ENST00000606466,;RP1-111C20.4,intron_variant,,ENST00000607796,;RP1-111C20.4,intron_variant,,ENST00000606470,;	A	ENST00000367066	Transcript	splice_acceptor_variant	-/3887	588/2196	196/731				1		-1	TAGAP	HGNC	HGNC:15669	protein_coding	YES	CCDS5261.1	ENSP00000356033	Q8N103		UPI0000071CD5	NM_054114.4				7/9																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	62	159039310	159039310	C	A	1	0	0	0	0	0	0	1	0	15933	695	24	2		2	TAGAP	6	159039310	Splice_Site	SNP	C	C3N-00580_TP	6818424	159039310	11766669	416	19876											
LPA	0	.	GRCh38	chr6	160650438	160650438	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agtggtggagtacgtgcctcGataactctgtccatcaccat	9	11	10	11	2	2	0	1	0	1	0	4	2	3	1	3	2	3	1	3	2	2	2	rs121912503		C3N-00580_TP	C3N-00580_NB	G	G																c.109C>G	p.Arg37Gly	p.R37G	ENST00000316300	2/39	394	232	162	446	446	0	strelka-varscan-mutect	LPA,missense_variant,p.Arg37Gly,ENST00000316300,NM_005577.2;	C	ENST00000316300	Transcript	missense_variant	154/6414	109/6123	37/2040	R/G	Cga/Gga	rs121912503,COSM3622586	1		-1	LPA	HGNC	HGNC:6667	protein_coding	YES	CCDS43523.1	ENSP00000321334	P08519		UPI0000458AC9	NM_005577.2	deleterious(0.01)		2/39		Gene3D:2.40.20.10,Pfam_domain:PF00051,PROSITE_profiles:PS50070,SMART_domains:SM00130,Superfamily_domains:SSF57440										pathogenic	0,1						MODERATE	1	SNV	1		1,1	1										PASS		rs121912503	.												C	3	2	62	160650438	160650438	G	C	1	0	0	0	0	1	0	0	0	8806	1066	37	4		4	LPA	6	160650438	Missense_Mutation	SNP	G	C3N-00580_TP	1611128	160650438	10155541	417	19877											
MAP3K4	0	.	GRCh38	chr6	161092108	161092108	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggatgaattatgtcctGactaaatgtgagagtggtag	13	12	13	3	0	0	3	0	3	0	1	1	5	1	4	1	2	0	1	1	2	6	3	rs780920080		C3N-00580_TP	C3N-00580_NB	G	G																c.3234G>T	p.=	p.L1078L	ENST00000392142	13/27	114	95	19	183	183	0	strelka-varscan-mutect	MAP3K4,synonymous_variant,p.=,ENST00000392142,NM_005922.3,NM_001291958.1;MAP3K4,synonymous_variant,p.=,ENST00000366920,NM_001301072.1;MAP3K4,synonymous_variant,p.=,ENST00000366919,NM_006724.3;MAP3K4,synonymous_variant,p.=,ENST00000348824,;MAP3K4,synonymous_variant,p.=,ENST00000544041,;MAP3K4,3_prime_UTR_variant,,ENST00000490904,;MAP3K4,upstream_gene_variant,,ENST00000543421,;	T	ENST00000392142	Transcript	synonymous_variant	3382/5490	3234/4827	1078/1608	L	ctG/ctT	rs780920080,COSM3622637,COSM3622638	1		1	MAP3K4	HGNC	HGNC:6856	protein_coding	YES	CCDS34565.1	ENSP00000375986	Q9Y6R4		UPI00004574E1	NM_005922.3,NM_001291958.1			13/27													0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs780920080	.												T	2	4	62	161092108	161092108	G	T	1	0	0	0	0	0	0	0	1	9175	1277	45	2		2	MAP3K4	6	161092108	Silent	SNP	G	C3N-00580_TP	441670	161092108	9713871	418	19878											
SDK1	0	.	GRCh38	chr7	4017326	4017326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcgtcttcagcagggCagtgaccgagtacaccttgc	7	9	13	12	2	3	1	1	1	2	0	3	2	3	1	2	2	3	3	2	2	1	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2576C>A	p.Ala859Glu	p.A859E	ENST00000404826	17/45	139	128	11	126	126	0	strelka-varscan-mutect	SDK1,missense_variant,p.Ala859Glu,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Ala859Glu,ENST00000615806,;SDK1,missense_variant,p.Ala859Glu,ENST00000389531,;	A	ENST00000404826	Transcript	missense_variant	2715/10397	2576/6642	859/2213	A/E	gCa/gAa		1		1	SDK1	HGNC	HGNC:19307	protein_coding	YES	CCDS34590.1	ENSP00000385899	Q7Z5N4		UPI0000DBEEC4	NM_152744.3	tolerated(0.89)		17/45		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF36,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	4017326	4017326	C	A	1	0	0	0	0	1	0	0	0	14243	710	25	2		2	SDK1	7	4017326	Missense_Mutation	SNP	C	C3N-00580_TP		4017326	155328647	419	19879											
RADIL	0	.	GRCh38	chr7	4817327	4817327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgctggccgtcagcgtgCaggagaacagcgattccttc	7	8	12	14	4	1	1	1	0	0	1	4	3	2	1	3	2	4	2	3	2	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1640G>T	p.Cys547Phe	p.C547F	ENST00000399583	7/15	190	150	40	197	197	0	strelka-varscan-mutect	RADIL,missense_variant,p.Cys547Phe,ENST00000399583,NM_018059.4;RADIL,3_prime_UTR_variant,,ENST00000445392,;RADIL,non_coding_transcript_exon_variant,,ENST00000473130,;RADIL,non_coding_transcript_exon_variant,,ENST00000484211,;RADIL,upstream_gene_variant,,ENST00000469399,;	A	ENST00000399583	Transcript	missense_variant	1828/3689	1640/3228	547/1075	C/F	tGc/tTc		1		-1	RADIL	HGNC	HGNC:22226	protein_coding	YES	CCDS43544.1	ENSP00000382492	Q96JH8		UPI0000E0A787	NM_018059.4	deleterious(0.02)		7/15		PROSITE_profiles:PS51126,hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3																	MODERATE	1	SNV	5			1										PASS		rs749888829	.												A	3	1	62	4817327	4817327	C	A	1	0	0	0	0	1	0	0	0	13158	710	25	2		2	RADIL	7	4817327	Missense_Mutation	SNP	C	C3N-00580_TP	800001	4817327	154528646	420	19880											
OCM	0	.	GRCh38	chr7	5880906	5880906	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatgagcatcacggacgTgctcagtgctgacgacattg	12	8	12	9	3	2	2	2	2	0	0	2	5	2	3	0	1	3	3	0	1	2	1	rs755888287		C3N-00580_TP	C3N-00580_NB	T	T																c.17T>A	p.Val6Glu	p.V6E	ENST00000242104	1/4	259	180	79	197	197	0	strelka-varscan-mutect	OCM,missense_variant,p.Val6Glu,ENST00000242104,NM_001097622.1;OCM,missense_variant,p.Val6Glu,ENST00000416608,;	A	ENST00000242104	Transcript	missense_variant	109/695	17/330	6/109	V/E	gTg/gAg	rs755888287	1		1	OCM	HGNC	HGNC:8105	protein_coding	YES	CCDS43548.1	ENSP00000242104	P0CE72		UPI00001D7522	NM_001097622.1	deleterious(0)		1/4		hmmpanther:PTHR11653,hmmpanther:PTHR11653:SF8																	MODERATE	1	SNV	1			1										PASS		rs755888287	.												A	3	1	62	5880906	5880906	T	A	1	0	0	0	0	1	0	0	0	10898	1696	59	4		4	OCM	7	5880906	Missense_Mutation	SNP	T	C3N-00580_TP	1063579	5880906	153465067	421	19881											
GRID2IP	0	.	GRCh38	chr7	6511033	6511033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtccagctcaggctccGgctctgctgtgggacatgca	6	8	13	14	1	2	0	1	0	1	0	4	1	4	1	3	4	3	5	3	4	0	0	rs747318372		C3N-00580_TP	C3N-00580_NB	G	G																c.1430C>A	p.Pro477Gln	p.P477Q	ENST00000457091	9/22	142	119	23	144	143	1	strelka-varscan-mutect	GRID2IP,missense_variant,p.Pro477Gln,ENST00000457091,NM_001145118.1;GRID2IP,missense_variant,p.Pro286Gln,ENST00000452113,;GRID2IP,missense_variant,p.Pro293Gln,ENST00000435185,;	T	ENST00000457091	Transcript	missense_variant	1430/3636	1430/3636	477/1211	P/Q	cCg/cAg	rs747318372	1		-1	GRID2IP	HGNC	HGNC:18464	protein_coding	YES	CCDS47537.1	ENSP00000397351	A4D2P6		UPI0001722D0B	NM_001145118.1	tolerated(0.05)		9/22		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF242,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs747318372	.												T	3	4	62	6511033	6511033	G	T	1	0	0	0	0	1	0	0	0	6653	1130	39	1		1	GRID2IP	7	6511033	Missense_Mutation	SNP	G	C3N-00580_TP	630127	6511033	152834940	422	19882											
TMEM106B	0	.	GRCh38	chr7	12231972	12231972	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgtacttcagccacaacaGtaaaaactggaagagatgga	18	7	9	7	0	1	1	1	0	0	1	1	4	1	3	1	2	4	2	1	2	7	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.822G>C	p.Gln274His	p.Q274H	ENST00000396667	9/9	121	80	41	75	75	0	strelka-varscan-mutect	TMEM106B,missense_variant,p.Gln274His,ENST00000396667,NM_018374.3;TMEM106B,missense_variant,p.Gln274His,ENST00000396668,NM_001134232.1;TMEM106B,non_coding_transcript_exon_variant,,ENST00000462754,;TMEM106B,downstream_gene_variant,,ENST00000420833,;TMEM106B,downstream_gene_variant,,ENST00000492762,;	C	ENST00000396667	Transcript	missense_variant	1144/12539	822/825	274/274	Q/H	caG/caC		1		1	TMEM106B	HGNC	HGNC:22407	protein_coding	YES	CCDS5358.1	ENSP00000379901	Q9NUM4	A0A024R9Z1	UPI000003ED3C	NM_018374.3	deleterious_low_confidence(0)		9/9		hmmpanther:PTHR28556,hmmpanther:PTHR28556:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	12231972	12231972	G	C	1	0	0	0	0	1	0	0	0	16465	1020	36	4		4	TMEM106B	7	12231972	Missense_Mutation	SNP	G	C3N-00580_TP	5720939	12231972	147114001	423	19883											
MEOX2	0	.	GRCh38	chr7	15612611	15612611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttttggaaccagactttcaCcttcaaccaagaaagggaac	14	9	8	10	0	2	2	2	0	0	2	2	4	2	4	3	2	3	1	3	2	5	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.691G>T	p.Val231Leu	p.V231L	ENST00000262041	3/3	294	172	122	208	208	0	strelka-varscan-mutect	MEOX2,missense_variant,p.Val231Leu,ENST00000262041,NM_005924.4;	A	ENST00000262041	Transcript	missense_variant,splice_region_variant	1101/2500	691/915	231/304	V/L	Gtg/Ttg		1		-1	MEOX2	HGNC	HGNC:7014	protein_coding	YES	CCDS34605.1	ENSP00000262041	P50222		UPI000013D247	NM_005924.4	deleterious(0.01)		3/3		PROSITE_profiles:PS50071,hmmpanther:PTHR24328,hmmpanther:PTHR24328:SF1,PROSITE_patterns:PS00027,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	15612611	15612611	C	A	1	0	0	0	0	1	0	0	0	9419	521	18	2		2	MEOX2	7	15612611	Missense_Mutation	SNP	C	C3N-00580_TP	3380639	15612611	143733362	424	19884											
SOSTDC1	0	.	GRCh38	chr7	16462850	16462850	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagttagggagcactggcaGgggcaagcactcgccagcac	10	4	14	13	1	0	0	0	0	0	0	1	1	0	1	2	4	3	6	2	4	2	1	rs780662318		C3N-00580_TP	C3N-00580_NB	G	G																c.319C>G	p.Leu107Val	p.L107V	ENST00000307068	2/2	194	143	51	135	135	0	strelka-varscan-mutect	SOSTDC1,missense_variant,p.Leu131Val,ENST00000396652,;SOSTDC1,missense_variant,p.Leu107Val,ENST00000307068,NM_015464.2;	C	ENST00000307068	Transcript	missense_variant	500/1869	319/621	107/206	L/V	Ctg/Gtg	rs780662318	1		-1	SOSTDC1	HGNC	HGNC:21748	protein_coding	YES	CCDS5360.1	ENSP00000304930	Q6X4U4	A4D125	UPI000004BA5E	NM_015464.2	tolerated(0.13)		2/2		PROSITE_profiles:PS01225,hmmpanther:PTHR14903,hmmpanther:PTHR14903:SF5,Pfam_domain:PF05463																	MODERATE	1	SNV	1			1										PASS		rs780662318	.												C	3	2	62	16462850	16462850	G	C	1	0	0	0	0	1	0	0	0	15261	991	35	4		4	SOSTDC1	7	16462850	Missense_Mutation	SNP	G	C3N-00580_TP	850239	16462850	142883123	425	19885											
SP8	0	.	GRCh38	chr7	20785160	20785160	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcgccggccgagcccacCtcgcccgcagcacccaggcc	6	1	13	21	5	0	0	0	0	0	0	1	2	0	0	7	3	2	2	7	3	0	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.657G>T	p.Glu219Asp	p.E219D	ENST00000418710	2/2	219	172	47	224	224	0	strelka-varscan	SP8,missense_variant,p.Glu177Asp,ENST00000617581,;SP8,missense_variant,p.Glu201Asp,ENST00000361443,NM_198956.3;SP8,missense_variant,p.Glu219Asp,ENST00000418710,NM_182700.5;	A	ENST00000418710	Transcript	missense_variant	745/1618	657/1527	219/508	E/D	gaG/gaT		1		-1	SP8	HGNC	HGNC:19196	protein_coding	YES	CCDS43555.1	ENSP00000408792	Q8IXZ3		UPI00001AADF2	NM_182700.5	tolerated(0.71)		2/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	20785160	20785160	C	A	1	0	0	0	0	1	0	0	0	15296	680	24	2		2	SP8	7	20785160	Missense_Mutation	SNP	C	C3N-00580_TP	4322310	20785160	138560813	426	19886											
IL6	0	.	GRCh38	chr7	22727610	22727610	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattcggtacatcctcgaCggcatctcagccctgagaaa	12	8	8	13	3	1	1	1	1	1	1	5	3	2	1	2	2	2	2	2	2	3	2	rs764720869		C3N-00580_TP	C3N-00580_NB	C	C																c.186C>A	p.Asp62Glu	p.D62E	ENST00000404625	3/6	58	44	14	32	32	0	strelka-varscan	IL6,missense_variant,p.Asp62Glu,ENST00000404625,;IL6,missense_variant,p.Asp62Glu,ENST00000258743,NM_000600.3;IL6,missense_variant,p.Asp39Glu,ENST00000401630,;IL6,missense_variant,p.Asp62Glu,ENST00000406575,;IL6,missense_variant,p.Asp62Glu,ENST00000426291,;IL6,intron_variant,,ENST00000407492,NM_001318095.1;IL6,intron_variant,,ENST00000401651,;AC073072.5,non_coding_transcript_exon_variant,,ENST00000325042,;IL6,non_coding_transcript_exon_variant,,ENST00000485300,;IL6,upstream_gene_variant,,ENST00000464710,;	A	ENST00000404625	Transcript	missense_variant	645/1527	186/639	62/212	D/E	gaC/gaA	rs764720869	1		1	IL6	HGNC	HGNC:6018	protein_coding	YES	CCDS5375.1	ENSP00000385675	P05231	Q75MH2	UPI000002C4A6		tolerated(1)		3/6		hmmpanther:PTHR11457:SF0,hmmpanther:PTHR11457,PIRSF_domain:PIRSF001935,Pfam_domain:PF00489,Gene3D:1.20.1250.10,SMART_domains:SM00126,Superfamily_domains:SSF47266,Prints_domain:PR00433,Prints_domain:PR00434																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	62	22727610	22727610	C	A	1	0	0	0	0	1	0	0	0	7605	535	19	1		1	IL6	7	22727610	Missense_Mutation	SNP	C	C3N-00580_TP	1942450	22727610	136618363	427	19887											
IL6	0	.	GRCh38	chr7	22728796	22728796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatggatgcttccaatctgGattcaatgaggtaccaactt	12	12	9	8	0	2	2	1	1	1	1	3	4	3	4	2	3	3	2	2	3	4	4			C3N-00580_TP	C3N-00580_NB	G	G																c.314G>T	p.Gly105Val	p.G105V	ENST00000404625	4/6	247	222	25	169	169	0	strelka-varscan	IL6,missense_variant,p.Gly105Val,ENST00000404625,;IL6,missense_variant,p.Gly105Val,ENST00000258743,NM_000600.3;IL6,missense_variant,p.Gly29Val,ENST00000407492,NM_001318095.1;IL6,missense_variant,p.Gly82Val,ENST00000401630,;IL6,missense_variant,p.Gly105Val,ENST00000406575,;IL6,missense_variant,p.Gly105Val,ENST00000426291,;IL6,missense_variant,p.Gly29Val,ENST00000401651,;AC073072.5,upstream_gene_variant,,ENST00000325042,;IL6,non_coding_transcript_exon_variant,,ENST00000485300,;IL6,non_coding_transcript_exon_variant,,ENST00000464710,;	T	ENST00000404625	Transcript	missense_variant	773/1527	314/639	105/212	G/V	gGa/gTa	COSM4542244,COSM4542245	1		1	IL6	HGNC	HGNC:6018	protein_coding	YES	CCDS5375.1	ENSP00000385675	P05231	Q75MH2	UPI000002C4A6		deleterious(0.01)		4/6		hmmpanther:PTHR11457:SF0,hmmpanther:PTHR11457,PROSITE_patterns:PS00254,PIRSF_domain:PIRSF001935,Pfam_domain:PF00489,Gene3D:1.20.1250.10,SMART_domains:SM00126,Superfamily_domains:SSF47266,Prints_domain:PR00433,Prints_domain:PR00434											1,1						MODERATE		SNV	5		1,1	1										PASS		.	.												T	3	4	62	22728796	22728796	G	T	1	0	0	0	0	1	0	0	0	7605	1174	41	2		2	IL6	7	22728796	Missense_Mutation	SNP	G	C3N-00580_TP	1186	22728796	136617177	428	19888											
HOXA2	0	.	GRCh38	chr7	27101200	27101200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctctactttctcggaGtcctcaaggcttttacattt	6	17	5	13	1	3	0	1	0	2	0	7	1	6	1	3	2	2	1	3	2	3	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.657C>G	p.Asp219Glu	p.D219E	ENST00000222718	2/2	522	377	145	506	505	1	strelka-varscan	HOXA2,missense_variant,p.Asp219Glu,ENST00000222718,NM_006735.3;HOXA3,downstream_gene_variant,,ENST00000612286,NM_153631.2;HOXA3,downstream_gene_variant,,ENST00000396352,NM_030661.4;HOTAIRM1,downstream_gene_variant,,ENST00000428939,;HOTAIRM1,downstream_gene_variant,,ENST00000429611,;HOTAIRM1,downstream_gene_variant,,ENST00000434063,;HOTAIRM1,downstream_gene_variant,,ENST00000593300,;HOTAIRM1,downstream_gene_variant,,ENST00000425358,;HOTAIRM1_2,downstream_gene_variant,,ENST00000616712,;HOTAIRM1,downstream_gene_variant,,ENST00000495032,;HOTAIRM1_5,downstream_gene_variant,,ENST00000619311,;HOTAIRM1_1,downstream_gene_variant,,ENST00000622675,;HOTAIRM1_4,downstream_gene_variant,,ENST00000617934,;HOTAIRM1_3,downstream_gene_variant,,ENST00000619974,;HOXA2,non_coding_transcript_exon_variant,,ENST00000612779,;	C	ENST00000222718	Transcript	missense_variant	968/1814	657/1131	219/376	D/E	gaC/gaG		1		-1	HOXA2	HGNC	HGNC:5103	protein_coding	YES	CCDS5403.1	ENSP00000222718	O43364		UPI0000049C49	NM_006735.3	tolerated(0.2)		2/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF179,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	27101200	27101200	G	C	1	0	0	0	0	1	0	0	0	7186	1020	36	4		4	HOXA2	7	27101200	Missense_Mutation	SNP	G	C3N-00580_TP	4372404	27101200	132244773	429	19889											
TRIL	0	.	GRCh38	chr7	28957472	28957472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcgttcttgcccagaaagCggatccggttggactccaga	9	8	13	11	3	1	2	0	0	1	2	3	4	3	4	3	4	2	2	3	4	1	3	rs751295953		C3N-00580_TP	C3N-00580_NB	C	C																c.575G>T	p.Arg192Leu	p.R192L	ENST00000539664	1/1	355	248	107	314	314	0	strelka-varscan	TRIL,missense_variant,p.Arg192Leu,ENST00000539664,NM_014817.3;AC005013.5,upstream_gene_variant,,ENST00000436594,;	A	ENST00000539664	Transcript	missense_variant	821/4935	575/2436	192/811	R/L	cGc/cTc	rs751295953	1		-1	TRIL	HGNC	HGNC:22200	protein_coding	YES	CCDS75573.1	ENSP00000479256	Q7L0X0		UPI00005C3DAC	NM_014817.3	deleterious(0.04)		1/1		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF263,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE		SNV				1										PASS		.	.												A	3	1	62	28957472	28957472	C	A	1	0	0	0	0	1	0	0	0	16974	768	27	1		1	TRIL	7	28957472	Missense_Mutation	SNP	C	C3N-00580_TP	1856272	28957472	130388501	430	19890											
FAM188B	0	.	GRCh38	chr7	30875607	30875607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcagaggcattgctgcacGcagtgatattggcttcttat	8	14	10	9	1	2	2	1	1	2	1	3	2	2	2	0	2	2	5	0	2	2	5	rs201694248		C3N-00580_TP	C3N-00580_NB	G	G																c.1922G>T	p.Arg641Leu	p.R641L	ENST00000265299	15/18	181	169	12	191	191	0	strelka-varscan	FAM188B,missense_variant,p.Arg641Leu,ENST00000265299,NM_032222.2;RP5-877J2.1,missense_variant,p.Arg107Leu,ENST00000509504,;INMT-FAM188B,3_prime_UTR_variant,,ENST00000458257,;FAM188B,non_coding_transcript_exon_variant,,ENST00000409881,;	T	ENST00000265299	Transcript	missense_variant	1999/2733	1922/2274	641/757	R/L	cGc/cTc	rs201694248	1		1	FAM188B	HGNC	HGNC:21916	protein_coding	YES	CCDS43565.1	ENSP00000265299	Q4G0A6		UPI0000D60E7B	NM_032222.2	deleterious(0)		15/18		Pfam_domain:PF13898,hmmpanther:PTHR12473,hmmpanther:PTHR12473:SF4,SMART_domains:SM01174																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	30875607	30875607	G	T	1	0	0	0	0	1	0	0	0	5366	1087	38	1		1	FAM188B	7	30875607	Missense_Mutation	SNP	G	C3N-00580_TP	1918135	30875607	128470366	431	19891											
AOAH	0	.	GRCh38	chr7	36673975	36673975	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatccaaacttgtcaatGactaaatagcaggtggtttt	12	14	8	7	0	2	2	1	2	1	0	3	2	3	2	1	2	2	2	1	2	5	5			C3N-00580_TP	C3N-00580_NB	G	G																c.258C>A	p.=	p.V86V	ENST00000617267	3/22	157	128	29	148	148	0	strelka-varscan	AOAH,synonymous_variant,p.=,ENST00000617267,NM_001177506.1;AOAH,synonymous_variant,p.=,ENST00000617537,NM_001637.3;AOAH,synonymous_variant,p.=,ENST00000612871,NM_001177507.1;AOAH,synonymous_variant,p.=,ENST00000435386,;	T	ENST00000617267	Transcript	synonymous_variant	559/2398	258/2067	86/688	V	gtC/gtA	COSM387748	1		-1	AOAH	HGNC	HGNC:548	protein_coding	YES	CCDS75584.1	ENSP00000479664		A0A087WVT3	UPI0001D043BB	NM_001177506.1			3/22		Gene3D:1.10.225.10,Pfam_domain:PF03489,PROSITE_profiles:PS50015,hmmpanther:PTHR15010,SMART_domains:SM00741,Superfamily_domains:SSF47862											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	62	36673975	36673975	G	T	1	0	0	0	0	0	0	0	1	835	1277	45	2		2	AOAH	7	36673975	Silent	SNP	G	C3N-00580_TP	5798368	36673975	122671998	432	19892											
HECW1	0	.	GRCh38	chr7	43311909	43311909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcaggggcggcccccaCgatggcgtcaccattccccg	6	5	12	18	4	2	0	2	0	0	0	3	2	3	0	6	4	0	0	6	4	0	1			C3N-00580_TP	C3N-00580_NB	C	C																c.174C>A	p.His58Gln	p.H58Q	ENST00000395891	4/30	599	447	152	413	413	0	strelka-varscan	HECW1,missense_variant,p.His58Gln,ENST00000395891,NM_015052.4;HECW1,missense_variant,p.His58Gln,ENST00000453890,NM_001287059.1;HECW1,non_coding_transcript_exon_variant,,ENST00000492310,;HECW1,non_coding_transcript_exon_variant,,ENST00000464944,;HECW1,non_coding_transcript_exon_variant,,ENST00000490954,;	A	ENST00000395891	Transcript	missense_variant	779/9501	174/4821	58/1606	H/Q	caC/caA	COSM3412052,COSM3412053	1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4	tolerated_low_confidence(0.39)		4/30													1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	62	43311909	43311909	C	A	1	0	0	0	0	1	0	0	0	6924	535	19	1		1	HECW1	7	43311909	Missense_Mutation	SNP	C	C3N-00580_TP	6637934	43311909	116034064	433	19893											
NACAD	0	.	GRCh38	chr7	45084835	45084835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctctgtctgaggtctgagGagcagcctccacggcccagg	6	7	13	15	1	3	2	0	2	3	0	4	3	4	3	4	4	2	1	4	4	0	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1345C>A	p.Pro449Thr	p.P449T	ENST00000490531	2/8	191	115	76	165	165	0	strelka-varscan	NACAD,missense_variant,p.Pro449Thr,ENST00000490531,NM_001146334.1;NACAD,upstream_gene_variant,,ENST00000460409,;	T	ENST00000490531	Transcript	missense_variant	1365/4780	1345/4689	449/1562	P/T	Cct/Act		1		-1	NACAD	HGNC	HGNC:22196	protein_coding	YES	CCDS47582.1	ENSP00000420477	O15069		UPI00001D747D	NM_001146334.1	tolerated(0.1)		2/8		hmmpanther:PTHR21713:SF1,hmmpanther:PTHR21713																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	45084835	45084835	G	T	1	0	0	0	0	1	0	0	0	10141	1174	41	2		2	NACAD	7	45084835	Missense_Mutation	SNP	G	C3N-00580_TP	1772926	45084835	114261138	434	19894											
PKD1L1	0	.	GRCh38	chr7	47840551	47840551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagtccattgtcgccaCataaaacaatgtacacctca	14	9	5	13	1	1	1	1	1	0	0	3	1	2	1	3	0	2	1	3	0	4	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.5462G>T	p.Cys1821Phe	p.C1821F	ENST00000289672	35/57	237	189	48	209	208	1	strelka-varscan	PKD1L1,missense_variant,p.Cys1821Phe,ENST00000289672,NM_138295.3;HUS1,intron_variant,,ENST00000436444,;	A	ENST00000289672	Transcript	missense_variant	5513/9092	5462/8550	1821/2849	C/F	tGt/tTt		1		-1	PKD1L1	HGNC	HGNC:18053	protein_coding	YES	CCDS34633.1	ENSP00000289672	Q8TDX9		UPI0000130FA9	NM_138295.3	tolerated(0.51)		35/57		PROSITE_profiles:PS50095,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF145,Gene3D:2.60.60.20,Pfam_domain:PF01477,SMART_domains:SM00308,Superfamily_domains:SSF49723																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	47840551	47840551	C	A	1	0	0	0	0	1	0	0	0	12060	478	17	2		2	PKD1L1	7	47840551	Missense_Mutation	SNP	C	C3N-00580_TP	2755716	47840551	111505422	435	19895											
ZNF679	0	.	GRCh38	chr7	64266453	64266453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacacatgtgaagaatgtGgccaagcctttagccgctcc	10	9	9	13	1	0	2	0	1	0	1	1	2	1	2	5	1	3	1	5	1	5	3			C3N-00580_TP	C3N-00580_NB	G	G																c.820G>T	p.Gly274Cys	p.G274C	ENST00000421025	5/5	178	124	54	104	104	0	strelka-varscan	ZNF679,missense_variant,p.Gly274Cys,ENST00000421025,NM_153363.2;ZNF679,missense_variant,p.Gly274Cys,ENST00000255746,;	T	ENST00000421025	Transcript	missense_variant	1089/1567	820/1236	274/411	G/C	Ggc/Tgc	COSM5237478	1		1	ZNF679	HGNC	HGNC:28650	protein_coding	YES	CCDS47592.1	ENSP00000416809	Q8IYX0		UPI000045756A	NM_153363.2	deleterious(0)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF91,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	62	64266453	64266453	G	T	1	0	0	0	0	1	0	0	0	18659	1348	47	2		2	ZNF679	7	64266453	Missense_Mutation	SNP	G	C3N-00580_TP	16425902	64266453	95079520	436	19896											
WBSCR17	0	.	GRCh38	chr7	71132949	71132950	+	Frame_Shift_Ins	INS	-	-	A																															ggccgcgcgccgaggtggccINSaacctcagcgcgcacagcgc																								novel		C3N-00580_TP	C3N-00580_NB	-	-																c.149dupA	p.Asn50LysfsTer40	p.N50Kfs*40	ENST00000333538	1/11	353	282	71	351	351	0	sindel-varindel-pindel	WBSCR17,frameshift_variant,p.Asn50LysfsTer40,ENST00000333538,NM_022479.2;	A	ENST00000333538	Transcript	frameshift_variant	781-782/3884	147-148/1797	49-50/598	-/X	-/A		1		1	WBSCR17	HGNC	HGNC:16347	protein_coding	YES	CCDS5540.1	ENSP00000329654	Q6IS24	Q2L4S5	UPI00000502D5	NM_022479.2			1/11		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38																	HIGH	1	insertion	1	2		1										PASS		.	.												A	7	5	62	71132949	71132949	-	A	1	0	1	1	0	0	0	0	0	17823	581	21	0		0	WBSCR17	7	71132949	Frame_Shift_Ins	INS	-	C3N-00580_TP	6866496	71132949	88213024	437	19897											
WBSCR17	0	.	GRCh38	chr7	71421000	71421000	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggacaactttgaggtgcAgcggtacgagaactcggccc	11	6	13	11	3	0	2	0	1	0	1	1	4	0	3	1	4	5	2	1	4	3	2	rs772568078		C3N-00580_TP	C3N-00580_NB	A	A																c.857A>G	p.Gln286Arg	p.Q286R	ENST00000333538	5/11	680	611	69	501	501	0	strelka-varscan-mutect	WBSCR17,missense_variant,p.Gln286Arg,ENST00000333538,NM_022479.2;WBSCR17,missense_variant,p.Gln207Arg,ENST00000618959,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;	G	ENST00000333538	Transcript	missense_variant	1491/3884	857/1797	286/598	Q/R	cAg/cGg	rs772568078,COSM1270351	1		1	WBSCR17	HGNC	HGNC:16347	protein_coding	YES	CCDS5540.1	ENSP00000329654	Q6IS24	Q2L4S5	UPI00000502D5	NM_022479.2	tolerated(0.14)		5/11		Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Superfamily_domains:SSF53448											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs772568078	.												G	3	3	62	71421000	71421000	A	G	1	0	0	0	0	1	0	0	0	17823	188	7	5		5	WBSCR17	7	71421000	Missense_Mutation	SNP	A	C3N-00580_TP	288051	71421000	87924973	438	19898											
CLIP2	0	.	GRCh38	chr7	74357468	74357468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgccctgctcaaggcacaGcatgagcaggtgagtggcag	10	7	14	10	0	1	2	1	2	0	0	1	2	1	2	1	3	4	5	1	3	1	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1206G>T	p.Gln402His	p.Q402H	ENST00000223398	6/17	260	144	116	243	242	1	strelka-varscan-mutect	CLIP2,missense_variant,p.Gln402His,ENST00000223398,NM_003388.4;CLIP2,missense_variant,p.Gln402His,ENST00000361545,NM_032421.2;CLIP2,missense_variant,p.Gln402His,ENST00000395060,;	T	ENST00000223398	Transcript	missense_variant	1533/5563	1206/3141	402/1046	Q/H	caG/caT		1		1	CLIP2	HGNC	HGNC:2586	protein_coding	YES	CCDS5569.1	ENSP00000223398	Q9UDT6		UPI000007061E	NM_003388.4	deleterious(0.03)		6/17		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	74357468	74357468	G	T	1	0	0	0	0	1	0	0	0	3302	962	34	2		2	CLIP2	7	74357468	Missense_Mutation	SNP	G	C3N-00580_TP	2936468	74357468	84988505	439	19899											
RSBN1L	0	.	GRCh38	chr7	77749618	77749618	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcatcctaaatgataacAtaaaagattacgttgggaag	18	9	9	5	1	0	2	0	1	0	1	1	3	1	3	1	2	2	2	1	2	8	5	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.898A>G	p.Ile300Val	p.I300V	ENST00000334955	3/8	223	201	22	190	190	0	strelka-varscan-mutect	RSBN1L,missense_variant,p.Ile300Val,ENST00000334955,NM_198467.2;RSBN1L,missense_variant,p.Ile30Val,ENST00000445288,;	G	ENST00000334955	Transcript	missense_variant	925/6422	898/2541	300/846	I/V	Ata/Gta		1		1	RSBN1L	HGNC	HGNC:24765	protein_coding	YES	CCDS43607.1	ENSP00000334040	Q6PCB5		UPI000020F469	NM_198467.2	tolerated(0.36)		3/8		hmmpanther:PTHR13354:SF9,hmmpanther:PTHR13354																	MODERATE	1	SNV	1			1										PASS		rs1404707318	.												G	3	3	62	77749618	77749618	A	G	1	0	0	0	0	1	0	0	0	13953	217	8	5		5	RSBN1L	7	77749618	Missense_Mutation	SNP	A	C3N-00580_TP	3392150	77749618	81596355	440	19900											
GNAI1	0	.	GRCh38	chr7	80189208	80189208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggggaggttgaagataGactttggtgactcagcccgg	9	10	15	7	1	1	4	1	2	0	2	1	5	1	5	1	5	1	1	1	5	3	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.280G>T	p.Asp94Tyr	p.D94Y	ENST00000351004	3/8	91	85	6	206	206	0	strelka-mutect	GNAI1,missense_variant,p.Asp94Tyr,ENST00000351004,NM_002069.5;GNAI1,missense_variant,p.Asp42Tyr,ENST00000457358,NM_001256414.1;GNAI1,missense_variant,p.Asp42Tyr,ENST00000418742,;GNAI1,incomplete_terminal_codon_variant,p.=,ENST00000447650,;GNAI1,non_coding_transcript_exon_variant,,ENST00000490206,;	T	ENST00000351004	Transcript	missense_variant	653/3347	280/1065	94/354	D/Y	Gac/Tac		1		1	GNAI1	HGNC	HGNC:4384	protein_coding	YES	CCDS5595.1	ENSP00000343027	P63096		UPI000000124A	NM_002069.5	deleterious(0)		3/8		Gene3D:1.10.400.10,Pfam_domain:PF00503,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF227,SMART_domains:SM00275,Superfamily_domains:SSF47895																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	80189208	80189208	G	T	1	0	0	0	0	1	0	0	0	6384	942	33	2		2	GNAI1	7	80189208	Missense_Mutation	SNP	G	C3N-00580_TP	2439590	80189208	79156765	441	19901											
CACNA2D1	0	.	GRCh38	chr7	82060461	82060461	+	Silent	SNP	G	G	T																															acgaaatcatcatctgagagGgtttctaacatttcggagac																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.846C>A	p.=	p.T282T	ENST00000356860	10/39	469	379	90	471	469	2	strelka-varscan-mutect	CACNA2D1,synonymous_variant,p.=,ENST00000356860,NM_000722.3;CACNA2D1,synonymous_variant,p.=,ENST00000356253,;CACNA2D1,synonymous_variant,p.=,ENST00000423588,NM_001302890.1;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000461275,;	T	ENST00000356860	Transcript	synonymous_variant	1185/7563	846/3276	282/1091	T	acC/acA		1		-1	CACNA2D1	HGNC	HGNC:1399	protein_coding	YES	CCDS5598.1	ENSP00000349320	P54289		UPI00003674CD	NM_000722.3			10/39		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	1			1										PASS		rs1230287844	.												T	2	4	62	82060461	82060461	G	T	1	0	0	0	0	0	0	0	1	2236	1219	43	2		2	CACNA2D1	7	82060461	Silent	SNP	G	C3N-00580_TP	1871253	82060461	77285512	442	19902	419	2									
CACNA2D1	0	.	GRCh38	chr7	82060462	82060462	+	Missense_Mutation	SNP	G	G	C																															cgaaatcatcatctgagaggGtttctaacatttcggagaca																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.845C>G	p.Thr282Ser	p.T282S	ENST00000356860	10/39	472	381	91	475	475	0	strelka-varscan-mutect	CACNA2D1,missense_variant,p.Thr282Ser,ENST00000356860,NM_000722.3;CACNA2D1,missense_variant,p.Thr282Ser,ENST00000356253,;CACNA2D1,missense_variant,p.Thr282Ser,ENST00000423588,NM_001302890.1;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000461275,;	C	ENST00000356860	Transcript	missense_variant	1184/7563	845/3276	282/1091	T/S	aCc/aGc		1		-1	CACNA2D1	HGNC	HGNC:1399	protein_coding	YES	CCDS5598.1	ENSP00000349320	P54289		UPI00003674CD	NM_000722.3	deleterious(0)		10/39		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	82060462	82060462	G	C	1	0	0	0	0	1	0	0	0	2236	1261	44	4		4	CACNA2D1	7	82060462	Missense_Mutation	SNP	G	C3N-00580_TP	1	82060462	77285511	443	19903	419	2									
GRM3	0	.	GRCh38	chr7	86839252	86839252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagacgcctgggccattggcCcagtcaccattgcctgtctg	7	9	11	14	1	2	1	1	0	1	1	2	1	2	1	5	2	1	0	5	2	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1738C>A	p.Pro580Thr	p.P580T	ENST00000361669	4/6	284	168	116	212	212	0	strelka-varscan-mutect	GRM3,missense_variant,p.Pro580Thr,ENST00000361669,NM_000840.2;GRM3,intron_variant,,ENST00000439827,;	A	ENST00000361669	Transcript	missense_variant	2837/4268	1738/2640	580/879	P/T	Cca/Aca		1		1	GRM3	HGNC	HGNC:4595	protein_coding	YES	CCDS5600.1	ENSP00000355316	Q14832	A4D1D0	UPI0000153EFC	NM_000840.2	deleterious(0.02)		4/6		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF107																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	86839252	86839252	C	A	1	0	0	0	0	1	0	0	0	6680	623	22	2		2	GRM3	7	86839252	Missense_Mutation	SNP	C	C3N-00580_TP	4778790	86839252	72506721	444	19904											
ABCB1	0	.	GRCh38	chr7	87505954	87505954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaagcaaaatatgaggCtgtctaacaagggcacgagc	16	6	10	9	1	1	1	0	1	1	0	2	2	2	1	1	2	3	3	1	2	7	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.3579G>T	p.Gln1193His	p.Q1193H	ENST00000622132	27/28	541	413	128	391	390	1	strelka-varscan-mutect	ABCB1,missense_variant,p.Gln1193His,ENST00000622132,;ABCB1,missense_variant,p.Gln1193His,ENST00000265724,NM_000927.4;ABCB1,missense_variant,p.Gln1129His,ENST00000543898,;ABCB1,non_coding_transcript_exon_variant,,ENST00000488737,;ABCB1,non_coding_transcript_exon_variant,,ENST00000475929,;ABCB1,non_coding_transcript_exon_variant,,ENST00000491360,;	A	ENST00000622132	Transcript	missense_variant	3904/4778	3579/3843	1193/1280	Q/H	caG/caT		1		-1	ABCB1	HGNC	HGNC:40	protein_coding	YES	CCDS5608.1	ENSP00000478255	P08183	A4D1D2	UPI000013D66C		tolerated(0.09)		27/28		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF241,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	87505954	87505954	C	A	1	0	0	0	0	1	0	0	0	44	796	28	2		2	ABCB1	7	87505954	Missense_Mutation	SNP	C	C3N-00580_TP	666702	87505954	71840019	445	19905											
C7orf62	0	.	GRCh38	chr7	88794866	88794866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaggtaattgctacgtGggacttggagaaaaagaaga	15	8	14	4	1	0	3	0	0	0	3	0	5	0	4	0	3	3	3	0	3	5	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.77C>A	p.Pro26Gln	p.P26Q	ENST00000297203	2/2	143	83	60	122	122	0	strelka-varscan-mutect	C7orf62,missense_variant,p.Pro26Gln,ENST00000297203,NM_152706.3;ZNF804B,intron_variant,,ENST00000333190,NM_181646.3;	T	ENST00000297203	Transcript	missense_variant	263/1023	77/762	26/253	P/Q	cCa/cAa		1		-1	C7orf62	HGNC	HGNC:22402	protein_coding	YES	CCDS34678.1	ENSP00000297203	Q8TBZ9		UPI000005034C	NM_152706.3	deleterious_low_confidence(0.01)		2/2		hmmpanther:PTHR34035,hmmpanther:PTHR34035:SF1																	MODERATE	1	SNV	1			1										PASS		rs1226326431	.												T	3	4	62	88794866	88794866	G	T	1	0	0	0	0	1	0	0	0	2146	1348	47	2		2	C7orf62	7	88794866	Missense_Mutation	SNP	G	C3N-00580_TP	1288912	88794866	70551107	446	19906											
AKAP9	0	.	GRCh38	chr7	92076935	92076935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagttcaacaattacatatGcaattagaaatacagaaaaa	22	9	5	5	0	1	2	1	0	0	2	1	3	1	2	0	0	4	2	0	0	11	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.6693G>A	p.Met2231Ile	p.M2231I	ENST00000356239	29/50	80	66	14	49	49	0	strelka-varscan-mutect	AKAP9,missense_variant,p.Met2231Ile,ENST00000356239,NM_005751.4,NM_147185.2;AKAP9,missense_variant,p.Met2242Ile,ENST00000359028,;AKAP9,missense_variant,p.Met2184Ile,ENST00000358100,;AKAP9,missense_variant,p.Met77Ile,ENST00000394534,;	A	ENST00000356239	Transcript	missense_variant	6926/12471	6693/11724	2231/3907	M/I	atG/atA		1		1	AKAP9	HGNC	HGNC:379	protein_coding	YES	CCDS5622.1	ENSP00000348573	Q99996		UPI000002A38D	NM_005751.4,NM_147185.2	deleterious(0)		29/50		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF252																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	92076935	92076935	G	A	1	0	0	0	0	1	0	0	0	543	1319	46	3		3	AKAP9	7	92076935	Missense_Mutation	SNP	G	C3N-00580_TP	3282069	92076935	67269038	447	19907											
KRIT1	0	.	GRCh38	chr7	92237681	92237681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttacctttgacaactgatGgaacaataaataatgatgct	15	13	6	7	0	0	3	0	3	0	0	0	4	0	4	1	1	4	1	1	1	7	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.341C>T	p.Pro114Leu	p.P114L	ENST00000394507	7/20	168	127	41	225	225	0	strelka-varscan-mutect	KRIT1,missense_variant,p.Pro114Leu,ENST00000394507,NM_194456.1;KRIT1,missense_variant,p.Pro114Leu,ENST00000340022,NM_194455.1,NM_004912.3;KRIT1,missense_variant,p.Pro114Leu,ENST00000412043,;KRIT1,missense_variant,p.Pro114Leu,ENST00000394505,NM_194454.1;KRIT1,missense_variant,p.Pro114Leu,ENST00000394503,NM_001013406.1;KRIT1,missense_variant,p.Pro114Leu,ENST00000458177,;KRIT1,missense_variant,p.Pro114Leu,ENST00000454017,;KRIT1,missense_variant,p.Pro114Leu,ENST00000433016,;KRIT1,downstream_gene_variant,,ENST00000444960,;KRIT1,downstream_gene_variant,,ENST00000430102,;KRIT1,downstream_gene_variant,,ENST00000452773,;KRIT1,downstream_gene_variant,,ENST00000425919,;KRIT1,upstream_gene_variant,,ENST00000445516,;KRIT1,downstream_gene_variant,,ENST00000440209,;KRIT1,downstream_gene_variant,,ENST00000413688,;KRIT1,downstream_gene_variant,,ENST00000425073,;KRIT1,downstream_gene_variant,,ENST00000458493,;KRIT1,downstream_gene_variant,,ENST00000422347,;KRIT1,non_coding_transcript_exon_variant,,ENST00000486261,;KRIT1,upstream_gene_variant,,ENST00000475770,;KRIT1,downstream_gene_variant,,ENST00000470309,;	A	ENST00000394507	Transcript	missense_variant	1125/4762	341/2211	114/736	P/L	cCa/cTa		1		-1	KRIT1	HGNC	HGNC:1573	protein_coding	YES	CCDS5624.1	ENSP00000378015	O00522	A4D1F7	UPI000006F5AA	NM_194456.1	deleterious(0)		7/20		hmmpanther:PTHR13283,Pfam_domain:PF16705																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	92237681	92237681	G	A	1	0	0	0	0	1	0	0	0	8327	1348	47	3		3	KRIT1	7	92237681	Missense_Mutation	SNP	G	C3N-00580_TP	160746	92237681	67108292	448	19908											
CDK6	0	.	GRCh38	chr7	92833095	92833095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctccctggctcacctgaCcacgttggggtgctcgaagg	6	8	13	14	2	1	1	1	1	0	0	3	2	2	1	3	4	2	4	3	4	1	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.229G>C	p.Val77Leu	p.V77L	ENST00000265734	2/8	202	158	44	137	137	0	strelka-varscan-mutect	CDK6,missense_variant,p.Val77Leu,ENST00000265734,NM_001259.6;CDK6,missense_variant,p.Val77Leu,ENST00000424848,NM_001145306.1;AC002454.1,upstream_gene_variant,,ENST00000435695,;AC002454.1,upstream_gene_variant,,ENST00000452050,;CDK6,downstream_gene_variant,,ENST00000491250,;	G	ENST00000265734	Transcript	missense_variant	641/11612	229/981	77/326	V/L	Gtc/Ctc		1		-1	CDK6	HGNC	HGNC:1777	protein_coding	YES	CCDS5628.1	ENSP00000265734	Q00534		UPI00001108FA	NM_001259.6	deleterious(0.01)		2/8		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF130,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	92833095	92833095	C	G	1	0	0	0	0	1	0	0	0	2852	521	18	4		4	CDK6	7	92833095	Missense_Mutation	SNP	C	C3N-00580_TP	595414	92833095	66512878	449	19909											
DLX6	0	.	GRCh38	chr7	97009952	97009952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgtttctgcctcggccaagGgtgtcagtatgccccccaac	7	9	10	15	2	2	0	1	0	1	0	3	0	2	0	5	2	3	2	5	2	3	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.787G>T	p.Gly263Cys	p.G263C	ENST00000518156	3/3	621	520	101	508	508	0	strelka-varscan-mutect	DLX6,missense_variant,p.Gly263Cys,ENST00000518156,NM_005222.3;DLX6,missense_variant,p.Gly135Cys,ENST00000555308,;DLX6-AS1,intron_variant,,ENST00000430027,;DLX6-AS1,intron_variant,,ENST00000605417,;DLX6-AS1,intron_variant,,ENST00000437331,;DLX6-AS1,intron_variant,,ENST00000452769,;DLX6-AS1,intron_variant,,ENST00000458352,;DLX6-AS1,intron_variant,,ENST00000430404,;DLX6-AS1,intron_variant,,ENST00000437541,;Evf-2_5p,downstream_gene_variant,,ENST00000614213,;DLX6,non_coding_transcript_exon_variant,,ENST00000493273,;	T	ENST00000518156	Transcript	missense_variant	1217/2304	787/882	263/293	G/C	Ggt/Tgt		1		1	DLX6	HGNC	HGNC:2919	protein_coding	YES	CCDS47647.2	ENSP00000428480	P56179		UPI0000EE57E0	NM_005222.3	deleterious(0)		3/3		hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF26																	MODERATE	1	SNV	1			1										PASS		rs1160525363	.												T	3	4	62	97009952	97009952	G	T	1	0	0	0	0	1	0	0	0	4382	1232	43	2		2	DLX6	7	97009952	Missense_Mutation	SNP	G	C3N-00580_TP	4176857	97009952	62336021	450	19910											
TMEM130	0	.	GRCh38	chr7	98848594	98848594	+	Missense_Mutation	SNP	C	C	A																															agtacccacctccaccatgtCcttttgctgagtggcattcc																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1108G>T	p.Asp370Tyr	p.D370Y	ENST00000416379	7/8	293	187	106	212	212	0	strelka-varscan-mutect	TMEM130,missense_variant,p.Asp286Tyr,ENST00000450876,;TMEM130,missense_variant,p.Asp370Tyr,ENST00000339375,NM_152913.2;TMEM130,missense_variant,p.Asp370Tyr,ENST00000416379,NM_001134450.1;TMEM130,missense_variant,p.Asp268Tyr,ENST00000345589,NM_001134451.1;TMEM130,upstream_gene_variant,,ENST00000474857,;TMEM130,downstream_gene_variant,,ENST00000461092,;	A	ENST00000416379	Transcript	missense_variant	1113/2881	1108/1308	370/435	D/Y	Gac/Tac		1		-1	TMEM130	HGNC	HGNC:25429	protein_coding	YES	CCDS47650.1	ENSP00000413163	Q8N3G9		UPI000006EF2E	NM_001134450.1	deleterious(0)		7/8		hmmpanther:PTHR11861:SF10,hmmpanther:PTHR11861																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	98848594	98848594	C	A	1	0	0	0	0	1	0	0	0	16487	855	30	2		2	TMEM130	7	98848594	Missense_Mutation	SNP	C	C3N-00580_TP	1838642	98848594	60497379	451	19911	420	2									
TMEM130	0	.	GRCh38	chr7	98848599	98848599	+	Missense_Mutation	SNP	T	T	G																															ccacctccaccatgtcctttTgctgagtggcattccgcagg																								novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1103A>C	p.Gln368Pro	p.Q368P	ENST00000416379	7/8	321	207	114	230	229	1	strelka-varscan-mutect	TMEM130,missense_variant,p.Gln284Pro,ENST00000450876,;TMEM130,missense_variant,p.Gln368Pro,ENST00000339375,NM_152913.2;TMEM130,missense_variant,p.Gln368Pro,ENST00000416379,NM_001134450.1;TMEM130,missense_variant,p.Gln266Pro,ENST00000345589,NM_001134451.1;TMEM130,upstream_gene_variant,,ENST00000474857,;TMEM130,downstream_gene_variant,,ENST00000461092,;	G	ENST00000416379	Transcript	missense_variant	1108/2881	1103/1308	368/435	Q/P	cAa/cCa		1		-1	TMEM130	HGNC	HGNC:25429	protein_coding	YES	CCDS47650.1	ENSP00000413163	Q8N3G9		UPI000006EF2E	NM_001134450.1	tolerated(0.11)		7/8		hmmpanther:PTHR11861:SF10,hmmpanther:PTHR11861																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	98848599	98848599	T	G	1	0	0	0	0	1	0	0	0	16487	1812	63	5		5	TMEM130	7	98848599	Missense_Mutation	SNP	T	C3N-00580_TP	5	98848599	60497374	452	19912	420	2									
STAG3	0	.	GRCh38	chr7	100202502	100202502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcggctacaccagcggcGccgcctcctagccgggttct	6	6	13	16	5	1	1	0	0	1	1	2	1	2	1	5	3	4	2	5	3	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2612G>A	p.Arg871His	p.R871H	ENST00000615138	25/34	194	142	52	163	163	0	strelka-varscan-mutect	STAG3,missense_variant,p.Arg871His,ENST00000426455,NM_001282716.1;STAG3,missense_variant,p.Arg871His,ENST00000615138,NM_001282717.1;STAG3,missense_variant,p.Arg813His,ENST00000620100,;STAG3,missense_variant,p.Arg871His,ENST00000317296,NM_012447.3;STAG3,missense_variant,p.Arg813His,ENST00000394018,NM_001282718.1;GATS,3_prime_UTR_variant,,ENST00000436886,NM_178831.6;GATS,3_prime_UTR_variant,,ENST00000454084,;STAG3,upstream_gene_variant,,ENST00000412190,;STAG3,non_coding_transcript_exon_variant,,ENST00000440830,;STAG3,non_coding_transcript_exon_variant,,ENST00000491498,;GATS,non_coding_transcript_exon_variant,,ENST00000440058,;GATS,non_coding_transcript_exon_variant,,ENST00000414997,;GATS,non_coding_transcript_exon_variant,,ENST00000437485,;GATS,3_prime_UTR_variant,,ENST00000328453,;GATS,3_prime_UTR_variant,,ENST00000543273,;STAG3,intron_variant,,ENST00000496157,;STAG3,upstream_gene_variant,,ENST00000451963,;STAG3,downstream_gene_variant,,ENST00000479359,;STAG3,downstream_gene_variant,,ENST00000477469,;STAG3,downstream_gene_variant,,ENST00000476057,;	A	ENST00000615138	Transcript	missense_variant	2939/4380	2612/3681	871/1226	R/H	cGc/cAc		1		1	STAG3	HGNC	HGNC:11356	protein_coding	YES	CCDS75642.1	ENSP00000477973		D6W5U7	UPI000048108A	NM_001282717.1	deleterious(0)		25/34		hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	100202502	100202502	G	A	1	0	0	0	0	1	0	0	0	15622	1087	38	1		1	STAG3	7	100202502	Missense_Mutation	SNP	G	C3N-00580_TP	1353903	100202502	59143471	453	19913											
ZCWPW1	0	.	GRCh38	chr7	100401076	100401076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgtgctgcagctcccCgctctgccccagctctctcc	2	11	9	19	1	2	0	0	0	2	0	5	0	4	0	5	0	6	7	5	0	0	1			C3N-00580_TP	C3N-00580_NB	C	C																c.1885G>T	p.Gly629Trp	p.G629W	ENST00000398027	18/18	193	174	19	209	209	0	strelka-varscan-mutect	ZCWPW1,missense_variant,p.Gly629Trp,ENST00000398027,NM_017984.4;ZCWPW1,missense_variant,p.Gly458Trp,ENST00000490721,;ZCWPW1,3_prime_UTR_variant,,ENST00000360951,NM_001258008.1;PILRA,downstream_gene_variant,,ENST00000198536,NM_013439.2;PILRA,downstream_gene_variant,,ENST00000453419,;PILRA,downstream_gene_variant,,ENST00000350573,NM_178272.1;PILRA,downstream_gene_variant,,ENST00000394000,NM_178273.1;ZCWPW1,downstream_gene_variant,,ENST00000471336,;PILRA,downstream_gene_variant,,ENST00000432297,;ZCWPW1,non_coding_transcript_exon_variant,,ENST00000490089,;ZCWPW1,non_coding_transcript_exon_variant,,ENST00000479315,;	A	ENST00000398027	Transcript	missense_variant	2133/2356	1885/1947	629/648	G/W	Ggg/Tgg	COSM3412592	1		-1	ZCWPW1	HGNC	HGNC:23486	protein_coding	YES	CCDS43623.1	ENSP00000381109	Q9H0M4		UPI000014146E	NM_017984.4	deleterious_low_confidence(0.03)		18/18		hmmpanther:PTHR15999,hmmpanther:PTHR15999:SF4											1						MODERATE	1	SNV	1		1	1										PASS		rs1368756919	.												A	3	1	62	100401076	100401076	C	A	1	0	0	0	0	1	0	0	0	18172	652	23	1		1	ZCWPW1	7	100401076	Missense_Mutation	SNP	C	C3N-00580_TP	198574	100401076	58944897	454	19914											
POP7	0	.	GRCh38	chr7	100707047	100707047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctgagatctacattcacGgcttgggcctggccatcaac	8	10	10	13	1	4	1	2	1	2	1	4	2	4	1	2	3	2	2	2	3	2	3	rs758799064		C3N-00580_TP	C3N-00580_NB	G	G																c.217G>T	p.Gly73Cys	p.G73C	ENST00000303151	2/2	791	648	143	519	518	1	strelka-varscan-mutect	POP7,missense_variant,p.Gly73Cys,ENST00000303151,NM_005837.2;POP7,missense_variant,p.Gly73Cys,ENST00000457480,;	T	ENST00000303151	Transcript	missense_variant	479/927	217/423	73/140	G/C	Ggc/Tgc	rs758799064	1		1	POP7	HGNC	HGNC:19949	protein_coding	YES	CCDS5704.1	ENSP00000304353	O75817		UPI000006E530	NM_005837.2	deleterious(0)		2/2		hmmpanther:PTHR15314,PIRSF_domain:PIRSF036572,Gene3D:3.30.110.20,Pfam_domain:PF12328,Superfamily_domains:SSF82704																	MODERATE	1	SNV	1			1										PASS		rs758799064	.												T	3	4	62	100707047	100707047	G	T	1	0	0	0	0	1	0	0	0	12368	1116	39	1		1	POP7	7	100707047	Missense_Mutation	SNP	G	C3N-00580_TP	305971	100707047	58638926	455	19915											
MUC12	0	.	GRCh38	chr7	100993989	100993989	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttctactcactcaacAgtgtcacctgccagcaccac	10	8	6	17	0	4	0	3	0	1	0	4	0	4	0	4	1	4	2	4	1	2	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.3426A>T	p.=	p.T1142T	ENST00000536621	2/12	329	312	17	300	300	0	varscan-mutect	MUC12,synonymous_variant,p.=,ENST00000379442,;MUC12,synonymous_variant,p.=,ENST00000536621,NM_001164462.1;	T	ENST00000536621	Transcript	synonymous_variant	3426/16321	3426/16008	1142/5335	T	acA/acT		1		1	MUC12	HGNC	HGNC:7510	protein_coding	YES	CCDS55139.1	ENSP00000441929	Q9UKN1		UPI0001B25898	NM_001164462.1			2/12																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	62	100993989	100993989	A	T	1	0	0	0	0	0	0	0	1	9969	175	7	4		4	MUC12	7	100993989	Silent	SNP	A	C3N-00580_TP	286942	100993989	58351984	456	19916											
MUC12	0	.	GRCh38	chr7	101003862	101003862	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacacaacttcaggccgTggtgaagaatcaacaacttc	15	7	8	11	1	2	2	2	1	0	1	3	2	2	2	1	2	5	1	1	2	6	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.13299T>A	p.=	p.R4433R	ENST00000536621	2/12	3027	2829	198	2911	2910	1	varscan-mutect	MUC12,synonymous_variant,p.=,ENST00000379442,;MUC12,synonymous_variant,p.=,ENST00000536621,NM_001164462.1;	A	ENST00000536621	Transcript	synonymous_variant	13299/16321	13299/16008	4433/5335	R	cgT/cgA		1		1	MUC12	HGNC	HGNC:7510	protein_coding	YES	CCDS55139.1	ENSP00000441929	Q9UKN1		UPI0001B25898	NM_001164462.1			2/12		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs1360826339	.												A	2	1	62	101003862	101003862	T	A	1	0	0	0	0	0	0	0	1	9969	1683	59	4		4	MUC12	7	101003862	Silent	SNP	T	C3N-00580_TP	9873	101003862	58342111	457	19917											
MUC17	0	.	GRCh38	chr7	101033278	101033278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaaggtaccagcatgccaaCctcaacttacagtgaaagag	15	7	9	10	0	1	3	1	2	0	1	1	3	1	3	3	1	6	2	3	1	6	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1862C>T	p.Thr621Ile	p.T621I	ENST00000306151	3/13	284	181	103	223	223	0	strelka-varscan-mutect	MUC17,missense_variant,p.Thr621Ile,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr621Ile,ENST00000379439,;	T	ENST00000306151	Transcript	missense_variant	1926/14247	1862/13482	621/4493	T/I	aCc/aTc		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	tolerated(0.23)		3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		rs1339341695	.												T	3	4	62	101033278	101033278	C	T	1	0	0	0	0	1	0	0	0	9973	507	18	3		3	MUC17	7	101033278	Missense_Mutation	SNP	C	C3N-00580_TP	29416	101033278	58312695	458	19918											
MUC17	0	.	GRCh38	chr7	101035516	101035516	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttgacaacagcacacCtgtgaccacttctactgaag	11	10	7	13	0	1	3	0	3	1	0	2	3	2	3	3	0	3	2	3	0	3	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.4100C>G	p.Pro1367Arg	p.P1367R	ENST00000306151	3/13	105	74	31	91	91	0	strelka-varscan-mutect	MUC17,missense_variant,p.Pro1367Arg,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Pro1367Arg,ENST00000379439,;	G	ENST00000306151	Transcript	missense_variant	4164/14247	4100/13482	1367/4493	P/R	cCt/cGt		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	deleterious(0.01)		3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	101035516	101035516	C	G	1	0	0	0	0	1	0	0	0	9973	681	24	4		4	MUC17	7	101035516	Missense_Mutation	SNP	C	C3N-00580_TP	2238	101035516	58310457	459	19919											
MUC17	0	.	GRCh38	chr7	101036459	101036459	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaggtaccagcatgccAacctcaacttatactgaagg	13	8	9	11	0	1	2	1	2	0	0	1	2	1	2	3	2	6	3	3	2	7	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.5043A>T	p.=	p.P1681P	ENST00000306151	3/13	175	133	42	133	133	0	strelka-varscan-mutect	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,synonymous_variant,p.=,ENST00000379439,;	T	ENST00000306151	Transcript	synonymous_variant	5107/14247	5043/13482	1681/4493	P	ccA/ccT		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1			3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	101036459	101036459	A	T	1	0	0	0	0	0	0	0	1	9973	117	5	4		4	MUC17	7	101036459	Silent	SNP	A	C3N-00580_TP	943	101036459	58309514	460	19920											
CUX1	0	.	GRCh38	chr7	102273416	102273416	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggctgtggccacagccActgagcagagagagctgatc	10	6	14	11	0	0	5	0	3	0	2	1	6	0	5	2	2	3	3	2	2	0	0	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1306A>T	p.Thr436Ser	p.T436S	ENST00000437600	15/23	288	205	83	312	312	0	strelka-varscan-mutect	CUX1,missense_variant,p.Thr436Ser,ENST00000437600,NM_001913.4;CUX1,missense_variant,p.Thr434Ser,ENST00000622516,NM_181500.3;CUX1,missense_variant,p.Thr436Ser,ENST00000292538,;CUX1,missense_variant,p.Thr420Ser,ENST00000547394,NM_001202544.2;CUX1,missense_variant,p.Thr390Ser,ENST00000425244,NM_001202545.2;CUX1,missense_variant,p.Thr397Ser,ENST00000393824,NM_001202546.2;CUX1,non_coding_transcript_exon_variant,,ENST00000560541,;CUX1,non_coding_transcript_exon_variant,,ENST00000558836,;CUX1,upstream_gene_variant,,ENST00000487284,;	T	ENST00000437600	Transcript	missense_variant	1433/3031	1306/2037	436/678	T/S	Act/Tct		1		1	CUX1	HGNC	HGNC:2557	protein_coding		CCDS5720.1	ENSP00000414091	Q13948		UPI00001A95D5	NM_001913.4	tolerated(1)		15/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14043:SF15,hmmpanther:PTHR14043,Pfam_domain:PF08172																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	62	102273416	102273416	A	T	1	0	0	0	0	1	0	0	0	3874	159	6	4		4	CUX1	7	102273416	Missense_Mutation	SNP	A	C3N-00580_TP	1236957	102273416	57072557	461	19921											
ARMC10	0	.	GRCh38	chr7	103086703	103086703	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaccagagtattaaagAgaaagctttaaatgcactaa	18	10	6	7	0	0	2	0	0	0	2	1	3	1	2	2	0	3	3	2	0	8	6	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.467A>G	p.Glu156Gly	p.E156G	ENST00000323716	4/7	105	89	16	136	136	0	strelka-varscan-mutect	ARMC10,missense_variant,p.Glu156Gly,ENST00000323716,NM_031905.4;ARMC10,missense_variant,p.Glu121Gly,ENST00000441711,NM_001161009.2;ARMC10,missense_variant,p.Glu156Gly,ENST00000428183,NM_001161010.2;ARMC10,missense_variant,p.Glu121Gly,ENST00000425331,NM_001161011.2;ARMC10,missense_variant,p.Glu121Gly,ENST00000454559,NM_001161012.2;ARMC10,missense_variant,p.Glu121Gly,ENST00000541300,NM_001161013.2;ARMC10,missense_variant,p.Glu167Gly,ENST00000434153,;ARMC10,missense_variant,p.Glu22Gly,ENST00000431642,;ARMC10,missense_variant,p.Glu156Gly,ENST00000323735,;ARMC10,3_prime_UTR_variant,,ENST00000306450,;CRYZP1,downstream_gene_variant,,ENST00000428923,;	G	ENST00000323716	Transcript	missense_variant	859/2635	467/1032	156/343	E/G	gAg/gGg		1		1	ARMC10	HGNC	HGNC:21706	protein_coding	YES	CCDS5728.1	ENSP00000319412	Q8N2F6		UPI0000039E55	NM_031905.4	deleterious(0)		4/7		Gene3D:1.25.10.10,Pfam_domain:PF04826,hmmpanther:PTHR15712,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	103086703	103086703	A	G	1	0	0	0	0	1	0	0	0	1090	304	11	5		5	ARMC10	7	103086703	Missense_Mutation	SNP	A	C3N-00580_TP	813287	103086703	56259270	462	19922											
RELN	0	.	GRCh38	chr7	103700965	103700965	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttggcatataacacgaTgatgctggggtctgaataac	12	12	10	7	1	2	2	0	2	2	0	2	3	2	2	0	3	3	2	0	3	4	5	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.847A>T	p.Ile283Phe	p.I283F	ENST00000428762	9/65	580	389	191	462	462	0	strelka-varscan-mutect	RELN,missense_variant,p.Ile283Phe,ENST00000424685,;RELN,missense_variant,p.Ile283Phe,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Ile283Phe,ENST00000343529,NM_173054.2;	A	ENST00000428762	Transcript	missense_variant	1007/11571	847/10383	283/3460	I/F	Atc/Ttc		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3	tolerated(0.06)		9/65		hmmpanther:PTHR11841																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	103700965	103700965	T	A	1	0	0	0	0	1	0	0	0	13390	1464	51	4		4	RELN	7	103700965	Missense_Mutation	SNP	T	C3N-00580_TP	614262	103700965	55645008	463	19923											
IFRD1	0	.	GRCh38	chr7	112456032	112456032	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgatgaggaaggaactcAagaagacctagagtacaagt	16	7	11	7	0	1	5	1	2	0	3	1	7	1	7	2	2	2	1	2	2	7	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.230A>T	p.Gln77Leu	p.Q77L	ENST00000403825	3/12	555	415	140	416	416	0	strelka-varscan-mutect	IFRD1,missense_variant,p.Gln27Leu,ENST00000535603,NM_001197079.1;IFRD1,missense_variant,p.Gln27Leu,ENST00000621379,NM_001197080.1;IFRD1,missense_variant,p.Gln77Leu,ENST00000403825,NM_001550.3;IFRD1,missense_variant,p.Gln77Leu,ENST00000429071,;IFRD1,missense_variant,p.Gln77Leu,ENST00000005558,NM_001007245.2;IFRD1,missense_variant,p.Gln27Leu,ENST00000440625,;IFRD1,missense_variant,p.Gln27Leu,ENST00000476927,;IFRD1,missense_variant,p.Gln27Leu,ENST00000443101,;IFRD1,downstream_gene_variant,,ENST00000445335,;IFRD1,upstream_gene_variant,,ENST00000486688,;IFRD1,upstream_gene_variant,,ENST00000466459,;	T	ENST00000403825	Transcript	missense_variant	491/2290	230/1356	77/451	Q/L	cAa/cTa		1		1	IFRD1	HGNC	HGNC:5456	protein_coding	YES	CCDS34736.1	ENSP00000384477	O00458	A4D0U1	UPI00000304DC	NM_001550.3	deleterious(0.01)		3/12		hmmpanther:PTHR12354:SF6,hmmpanther:PTHR12354,Pfam_domain:PF05004																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	112456032	112456032	A	T	1	0	0	0	0	1	0	0	0	7457	130	5	4		4	IFRD1	7	112456032	Missense_Mutation	SNP	A	C3N-00580_TP	8755067	112456032	46889941	464	19924											
PTPRZ1	0	.	GRCh38	chr7	122012665	122012665	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctgtgcccagtgatccaAtattggttgaaacccccaaa	12	9	8	12	0	0	2	0	2	0	0	1	2	1	2	4	1	3	2	4	1	4	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.3619A>T	p.Ile1207Leu	p.I1207L	ENST00000393386	12/30	265	191	74	215	215	0	strelka-varscan-mutect	PTPRZ1,missense_variant,p.Ile1207Leu,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,intron_variant,,ENST00000449182,NM_001206839.1;PTPRZ1,intron_variant,,ENST00000483028,;	T	ENST00000393386	Transcript	missense_variant	4030/8175	3619/6948	1207/2315	I/L	Ata/Tta		1		1	PTPRZ1	HGNC	HGNC:9685	protein_coding	YES	CCDS34740.1	ENSP00000377047	P23471		UPI000020F9BB	NM_001206838.1,NM_002851.2	tolerated_low_confidence(0.15)		12/30																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	122012665	122012665	A	T	1	0	0	0	0	1	0	0	0	12969	101	4	4		4	PTPRZ1	7	122012665	Missense_Mutation	SNP	A	C3N-00580_TP	9556633	122012665	37333308	465	19925											
PTPRZ1	0	.	GRCh38	chr7	122051441	122051441	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagctcctgagccagtCaaatatacagcagagtgact	12	8	9	12	0	1	3	1	2	0	1	2	3	2	3	3	0	5	2	3	0	3	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.6098C>A	p.Ser2033Ter	p.S2033*	ENST00000393386	24/30	194	154	40	163	163	0	strelka-varscan-mutect	PTPRZ1,stop_gained,p.Ser2033Ter,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,stop_gained,p.Ser1166Ter,ENST00000449182,NM_001206839.1;	A	ENST00000393386	Transcript	stop_gained	6509/8175	6098/6948	2033/2315	S/*	tCa/tAa		1		1	PTPRZ1	HGNC	HGNC:9685	protein_coding	YES	CCDS34740.1	ENSP00000377047	P23471		UPI000020F9BB	NM_001206838.1,NM_002851.2			24/30		PROSITE_profiles:PS50055,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	62	122051441	122051441	C	A	1	0	0	0	0	0	1	0	0	12969	838	29	2		2	PTPRZ1	7	122051441	Nonsense_Mutation	SNP	C	C3N-00580_TP	38776	122051441	37294532	466	19926											
FEZF1	0	.	GRCh38	chr7	122302138	122302138	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccagctggcgtgcgggcCagccccaggctgctgtcgtg	3	7	16	15	4	0	0	0	0	0	0	2	0	0	0	4	3	4	3	4	3	0	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1287G>T	p.=	p.L429L	ENST00000442488	4/4	444	324	120	454	454	0	strelka-varscan-mutect	FEZF1,synonymous_variant,p.=,ENST00000442488,NM_001024613.3;FEZF1,synonymous_variant,p.=,ENST00000427185,NM_001160264.2;FEZF1,downstream_gene_variant,,ENST00000418046,;FEZF1-AS1,upstream_gene_variant,,ENST00000428449,;FEZF1-AS1,upstream_gene_variant,,ENST00000437317,;FEZF1-AS1,upstream_gene_variant,,ENST00000424404,;	A	ENST00000442488	Transcript	synonymous_variant	1355/2099	1287/1428	429/475	L	ctG/ctT		1		-1	FEZF1	HGNC	HGNC:22788	protein_coding	YES	CCDS34741.2	ENSP00000411145	A0PJY2		UPI00004193D6	NM_001024613.3			4/4																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	122302138	122302138	C	A	1	0	0	0	0	0	0	0	1	5688	581	21	2		2	FEZF1	7	122302138	Silent	SNP	C	C3N-00580_TP	250697	122302138	37043835	467	19927											
LMOD2	0	.	GRCh38	chr7	123662237	123662237	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgacaccacagaagtcaaTttgaacaacattgagaacat	17	8	6	10	0	1	4	1	3	0	2	1	5	1	4	2	0	3	0	2	0	5	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.651T>A	p.Asn217Lys	p.N217K	ENST00000458573	2/3	325	246	79	297	297	0	strelka-varscan-mutect	LMOD2,missense_variant,p.Asn217Lys,ENST00000458573,NM_207163.1;LMOD2,intron_variant,,ENST00000456238,;	A	ENST00000458573	Transcript	missense_variant	808/2346	651/1644	217/547	N/K	aaT/aaA		1		1	LMOD2	HGNC	HGNC:6648	protein_coding	YES	CCDS47693.1	ENSP00000411932	Q6P5Q4		UPI0001572CCA	NM_207163.1	deleterious(0)		2/3		Gene3D:3.80.10.10,hmmpanther:PTHR10901,hmmpanther:PTHR10901:SF12,Superfamily_domains:SSF52047																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	62	123662237	123662237	T	A	1	0	0	0	0	1	0	0	0	8784	1490	52	4		4	LMOD2	7	123662237	Missense_Mutation	SNP	T	C3N-00580_TP	1360099	123662237	35683736	468	19928											
TMEM229A	0	.	GRCh38	chr7	124031967	124031967	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcagggtgatgaggcccAtaaaattgagcgggtagtga	13	8	14	6	1	1	4	1	4	0	0	1	4	1	4	1	3	1	1	1	3	3	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1037T>C	p.Met346Thr	p.M346T	ENST00000455783	1/1	374	328	46	275	275	0	strelka-varscan-mutect	TMEM229A,missense_variant,p.Met346Thr,ENST00000455783,NM_001136002.1;RP5-921G16.1,upstream_gene_variant,,ENST00000484322,;RP4-630C24.3,downstream_gene_variant,,ENST00000472838,;	G	ENST00000455783	Transcript	missense_variant	1057/2108	1037/1143	346/380	M/T	aTg/aCg		1		-1	TMEM229A	HGNC	HGNC:37279	protein_coding	YES	CCDS47694.1	ENSP00000395244	B2RXF0		UPI0001823FDC	NM_001136002.1	deleterious(0.02)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR31746,hmmpanther:PTHR31746:SF2																	MODERATE		SNV				1										PASS		.	.												G	3	3	62	124031967	124031967	A	G	1	0	0	0	0	1	0	0	0	16589	217	8	5		5	TMEM229A	7	124031967	Missense_Mutation	SNP	A	C3N-00580_TP	369730	124031967	35314006	469	19929											
LEP	0	.	GRCh38	chr7	128252138	128252138	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcaagacaattgtcacCaggatcaatgacatttcaca	15	10	5	11	0	5	2	5	1	0	1	5	3	5	3	1	1	0	0	1	1	3	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.120C>A	p.=	p.T40T	ENST00000308868	2/3	761	632	129	493	493	0	strelka-varscan-mutect	LEP,synonymous_variant,p.=,ENST00000308868,NM_000230.2;	A	ENST00000308868	Transcript	synonymous_variant	171/3420	120/504	40/167	T	acC/acA		1		1	LEP	HGNC	HGNC:6553	protein_coding	YES	CCDS5800.1	ENSP00000312652	P41159	A4D0Y8	UPI00000308D4	NM_000230.2			2/3		hmmpanther:PTHR11724:SF1,hmmpanther:PTHR11724,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF001837,Pfam_domain:PF02024,Superfamily_domains:SSF47266,Prints_domain:PR00495,PD005698																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	128252138	128252138	C	A	1	0	0	0	0	0	0	0	1	8635	581	21	2		2	LEP	7	128252138	Silent	SNP	C	C3N-00580_TP	4220171	128252138	31093835	470	19930											
FAM71F1	0	.	GRCh38	chr7	128716893	128716893	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgacctcctcggtaccctgCctgcccctccccaacatcct	5	9	6	21	1	0	1	0	1	0	0	4	1	3	1	9	1	4	1	9	1	2	1	rs115473588		C3N-00580_TP	C3N-00580_NB	C	C																c.330C>T	p.=	p.C110C	ENST00000315184	2/7	256	193	63	216	216	0	strelka-varscan-mutect	FAM71F1,missense_variant,p.Pro32Ser,ENST00000621392,;FAM71F1,missense_variant,p.Pro32Ser,ENST00000485070,NM_001282789.1;FAM71F1,synonymous_variant,p.=,ENST00000315184,NM_001282788.1,NM_032599.3;FAM71F1,upstream_gene_variant,,ENST00000466842,;FAM71F1,non_coding_transcript_exon_variant,,ENST00000469348,;FAM71F1,non_coding_transcript_exon_variant,,ENST00000483459,;FAM71F1,synonymous_variant,p.=,ENST00000471558,;FAM71F1,5_prime_UTR_variant,,ENST00000484425,;FAM71F1,non_coding_transcript_exon_variant,,ENST00000493738,;	T	ENST00000315184	Transcript	synonymous_variant	383/1718	330/1035	110/344	C	tgC/tgT	rs115473588	1		1	FAM71F1	HGNC	HGNC:30704	protein_coding	YES	CCDS5804.1	ENSP00000326652	Q96KD3	A0A140VJJ3	UPI000006D961	NM_001282788.1,NM_032599.3			2/7		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF13																	LOW	1	SNV	1			1										PASS		rs115473588	.												T	2	4	62	128716893	128716893	C	T	1	0	0	0	0	0	0	0	1	5477	748	26	3		3	FAM71F1	7	128716893	Silent	SNP	C	C3N-00580_TP	464755	128716893	30629080	471	19931											
FLNC	0	.	GRCh38	chr7	128852743	128852743	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagcgcctgcccaacCggcacattggtgagcgtggg	7	7	15	12	3	0	2	0	2	0	0	0	2	0	2	3	3	5	2	3	3	2	1	rs746182820		C3N-00580_TP	C3N-00580_NB	C	C																c.5995C>A	p.=	p.R1999R	ENST00000325888	36/48	323	197	126	238	238	0	strelka-varscan-mutect	FLNC,synonymous_variant,p.=,ENST00000325888,NM_001458.4;FLNC,synonymous_variant,p.=,ENST00000346177,NM_001127487.1;RP11-309L24.2,intron_variant,,ENST00000469965,;	A	ENST00000325888	Transcript	synonymous_variant	6256/9188	5995/8178	1999/2725	R	Cgg/Agg	rs746182820,COSM260963	1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4			36/48		Gene3D:2.60.40.10,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296											0,1						LOW	1	SNV	1		0,1	1										PASS		rs746182820	.												A	2	1	62	128852743	128852743	C	A	1	0	0	0	0	0	0	0	1	5791	643	23	1		1	FLNC	7	128852743	Silent	SNP	C	C3N-00580_TP	135850	128852743	30493230	472	19932											
FLNC	0	.	GRCh38	chr7	128854612	128854612	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttcactgtggggccgctGggtgaaggtggtgcccacaa	7	8	16	10	1	1	1	1	1	0	0	1	1	1	1	2	5	1	2	2	5	2	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.6927G>T	p.=	p.L2309L	ENST00000325888	41/48	449	327	122	348	348	0	strelka-varscan-mutect	FLNC,synonymous_variant,p.=,ENST00000325888,NM_001458.4;FLNC,synonymous_variant,p.=,ENST00000346177,NM_001127487.1;RP11-309L24.2,intron_variant,,ENST00000469965,;	T	ENST00000325888	Transcript	synonymous_variant	7188/9188	6927/8178	2309/2725	L	ctG/ctT		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4			41/48		Gene3D:2.60.40.10,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	128854612	128854612	G	T	1	0	0	0	0	0	0	0	1	5791	1335	47	2		2	FLNC	7	128854612	Silent	SNP	G	C3N-00580_TP	1869	128854612	30491361	473	19933											
FLNC	0	.	GRCh38	chr7	128857310	128857310	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcccccagcacatcgtggGcagccccttcaaggccaagg	8	5	12	16	1	1	0	1	0	0	0	2	0	1	0	5	4	2	2	5	4	2	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.7754G>C	p.Gly2585Ala	p.G2585A	ENST00000325888	46/48	341	238	103	289	289	0	strelka-mutect	FLNC,missense_variant,p.Gly2585Ala,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Gly2552Ala,ENST00000346177,NM_001127487.1;RP11-309L24.2,intron_variant,,ENST00000469965,;	C	ENST00000325888	Transcript	missense_variant	8015/9188	7754/8178	2585/2725	G/A	gGc/gCc		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4	deleterious(0)		46/48		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		rs1261253482	.												C	3	2	62	128857310	128857310	G	C	1	0	0	0	0	1	0	0	0	5791	1203	42	4		4	FLNC	7	128857310	Missense_Mutation	SNP	G	C3N-00580_TP	2698	128857310	30488663	474	19934											
FLNC	0	.	GRCh38	chr7	128858449	128858449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacactgtcaaggagaaaGgggactacatcctcattgtc	12	9	9	11	0	2	1	2	0	0	1	4	3	3	2	2	3	2	0	2	3	4	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.8104G>T	p.Gly2702Trp	p.G2702W	ENST00000325888	48/48	452	322	130	364	364	0	strelka-varscan-mutect	FLNC,missense_variant,p.Gly2702Trp,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Gly2669Trp,ENST00000346177,NM_001127487.1;ATP6V1F,upstream_gene_variant,,ENST00000492758,NM_001198909.1;ATP6V1F,upstream_gene_variant,,ENST00000249289,NM_004231.3;RP11-309L24.2,intron_variant,,ENST00000469965,;KCP,downstream_gene_variant,,ENST00000492679,;	T	ENST00000325888	Transcript	missense_variant	8365/9188	8104/8178	2702/2725	G/W	Ggg/Tgg		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4	deleterious(0)		48/48		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		rs1274809025	.												T	3	4	62	128858449	128858449	G	T	1	0	0	0	0	1	0	0	0	5791	1000	35	2		2	FLNC	7	128858449	Missense_Mutation	SNP	G	C3N-00580_TP	1139	128858449	30487524	475	19935											
IRF5	0	.	GRCh38	chr7	128947921	128947921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccccagtgacaagcagcGcttctacacgaaccagctgc	11	6	8	16	2	1	1	0	1	1	0	2	2	2	1	3	0	6	3	3	0	3	2	rs368255860		C3N-00580_TP	C3N-00580_NB	G	G																c.980G>A	p.Arg327His	p.R327H	ENST00000357234	7/9	358	325	33	273	273	0	strelka-varscan-mutect	IRF5,missense_variant,p.Arg311His,ENST00000402030,NM_001098630.2;IRF5,missense_variant,p.Arg311His,ENST00000249375,NM_032643.4;IRF5,missense_variant,p.Arg311His,ENST00000473745,NM_001098627.3;IRF5,missense_variant,p.Arg327His,ENST00000357234,NM_001098629.2;IRF5,missense_variant,p.Arg225His,ENST00000477535,NM_001242452.2;IRF5,3_prime_UTR_variant,,ENST00000619830,;IRF5,downstream_gene_variant,,ENST00000489702,;IRF5,downstream_gene_variant,,ENST00000479582,;IRF5,downstream_gene_variant,,ENST00000613821,;IRF5,downstream_gene_variant,,ENST00000464557,;RP11-309L24.10,downstream_gene_variant,,ENST00000613068,;IRF5,3_prime_UTR_variant,,ENST00000465603,;IRF5,downstream_gene_variant,,ENST00000461416,;IRF5,downstream_gene_variant,,ENST00000488569,;IRF5,downstream_gene_variant,,ENST00000473787,;	A	ENST00000357234	Transcript	missense_variant	1101/1680	980/1545	327/514	R/H	cGc/cAc	rs368255860	1		1	IRF5	HGNC	HGNC:6120	protein_coding	YES	CCDS43645.1	ENSP00000349770	Q13568	A0A024R763	UPI000013CC7D	NM_001098629.2	deleterious(0)		7/9		Gene3D:2.60.200.10,Pfam_domain:PF10401,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF10,SMART_domains:SM01243,Superfamily_domains:SSF49879																	MODERATE	1	SNV	1			1										PASS		rs368255860	.												A	3	1	62	128947921	128947921	G	A	1	0	0	0	0	1	0	0	0	7740	1087	38	1		1	IRF5	7	128947921	Missense_Mutation	SNP	G	C3N-00580_TP	89472	128947921	30398052	476	19936											
TSPAN33	0	.	GRCh38	chr7	129162406	129162406	+	Missense_Mutation	SNP	C	C	A																															ttttccagaagcagccctagCctgcctggcagtggaccctg																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.173C>A	p.Ala58Asp	p.A58D	ENST00000486685	3/8	231	159	72	159	159	0	strelka-varscan-mutect	TSPAN33,missense_variant,p.Ala58Asp,ENST00000486685,NM_178562.4;RNY1P11,upstream_gene_variant,,ENST00000363759,;TSPAN33,upstream_gene_variant,,ENST00000614309,;TSPAN33,upstream_gene_variant,,ENST00000496963,;	A	ENST00000486685	Transcript	missense_variant	262/1863	173/852	58/283	A/D	gCc/gAc		1		1	TSPAN33	HGNC	HGNC:28743	protein_coding	YES	CCDS5810.1	ENSP00000483872	Q86UF1		UPI000000DA83	NM_178562.4	tolerated(0.82)		3/8		Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF154																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	129162406	129162406	C	A	1	0	0	0	0	1	0	0	0	17153	739	26	2		2	TSPAN33	7	129162406	Missense_Mutation	SNP	C	C3N-00580_TP	214485	129162406	30183567	477	19937	421	2									
TSPAN33	0	.	GRCh38	chr7	129162407	129162407	+	Silent	SNP	C	C	G																															tttccagaagcagccctagcCtgcctggcagtggaccctgc																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.174C>G	p.=	p.A58A	ENST00000486685	3/8	236	162	74	164	164	0	strelka-varscan-mutect	TSPAN33,synonymous_variant,p.=,ENST00000486685,NM_178562.4;RNY1P11,upstream_gene_variant,,ENST00000363759,;TSPAN33,upstream_gene_variant,,ENST00000614309,;TSPAN33,upstream_gene_variant,,ENST00000496963,;	G	ENST00000486685	Transcript	synonymous_variant	263/1863	174/852	58/283	A	gcC/gcG		1		1	TSPAN33	HGNC	HGNC:28743	protein_coding	YES	CCDS5810.1	ENSP00000483872	Q86UF1		UPI000000DA83	NM_178562.4			3/8		Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF154																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	62	129162407	129162407	C	G	1	0	0	0	0	0	0	0	1	17153	668	24	4		4	TSPAN33	7	129162407	Silent	SNP	C	C3N-00580_TP	1	129162407	30183566	478	19938	421	2									
CPA5	0	.	GRCh38	chr7	130363450	130363450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggaagaacaagtccatcaGacctggaatcttctgcatcg	12	8	10	11	2	3	2	1	0	2	2	5	4	4	4	2	2	2	1	2	2	4	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.779G>C	p.Arg260Thr	p.R260T	ENST00000485477	9/12	260	177	83	244	244	0	strelka-varscan-mutect	CPA5,missense_variant,p.Arg260Thr,ENST00000485477,;CPA5,missense_variant,p.Arg260Thr,ENST00000466363,;CPA5,missense_variant,p.Arg260Thr,ENST00000474905,NM_080385.4,NM_001127441.1;CPA5,missense_variant,p.Arg260Thr,ENST00000431780,NM_001127442.1;CPA5,missense_variant,p.Arg260Thr,ENST00000461828,NM_001318223.1;CPA5,missense_variant,p.Arg260Thr,ENST00000393213,;CPA5,missense_variant,p.Arg4Thr,ENST00000479492,;CPA5,downstream_gene_variant,,ENST00000463587,;CPA5,non_coding_transcript_exon_variant,,ENST00000495736,;	C	ENST00000485477	Transcript	missense_variant	1908/2573	779/1311	260/436	R/T	aGa/aCa		1		1	CPA5	HGNC	HGNC:15722	protein_coding	YES	CCDS5819.1	ENSP00000420237	Q8WXQ8	A4D1M2	UPI000000D837		tolerated(0.25)		9/12		hmmpanther:PTHR11705:SF16,hmmpanther:PTHR11705,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	130363450	130363450	G	C	1	0	0	0	0	1	0	0	0	3587	942	33	4		4	CPA5	7	130363450	Missense_Mutation	SNP	G	C3N-00580_TP	1201043	130363450	28982523	479	19939											
PLXNA4	0	.	GRCh38	chr7	132228433	132228433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgaggcaaacctgcggggCtccttggaccgctcacaccg	7	6	12	16	4	1	0	1	0	0	0	3	2	3	1	5	4	2	3	5	4	1	1	rs762976412		C3N-00580_TP	C3N-00580_NB	C	C																c.1641G>T	p.Glu547Asp	p.E547D	ENST00000359827	6/32	290	188	102	265	264	1	strelka-varscan-mutect	PLXNA4,missense_variant,p.Glu547Asp,ENST00000359827,;PLXNA4,missense_variant,p.Glu547Asp,ENST00000321063,NM_020911.1;	A	ENST00000359827	Transcript	missense_variant	2604/13786	1641/5685	547/1894	E/D	gaG/gaT	rs762976412	1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B		tolerated(0.48)		6/32		Gene3D:3.30.1680.10,Pfam_domain:PF01437,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,SMART_domains:SM00423,Superfamily_domains:SSF103575																	MODERATE	1	SNV	5			1										PASS		rs762976412	.												A	3	1	62	132228433	132228433	C	A	1	0	0	0	0	1	0	0	0	12228	796	28	2		2	PLXNA4	7	132228433	Missense_Mutation	SNP	C	C3N-00580_TP	1864983	132228433	27117540	480	19940											
KIAA1549	0	.	GRCh38	chr7	138838094	138838094	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggagctgagggctcccTgcctgaagtccttggcacct	7	8	14	12	0	0	2	0	2	0	0	2	4	2	4	4	4	2	3	4	4	2	1	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.5665A>T	p.Arg1889Trp	p.R1889W	ENST00000422774	20/20	119	72	47	112	112	0	strelka-varscan-mutect	KIAA1549,missense_variant,p.Arg1873Trp,ENST00000440172,NM_020910.2;KIAA1549,missense_variant,p.Arg1889Trp,ENST00000422774,NM_001164665.1;TMEM213,3_prime_UTR_variant,,ENST00000413208,;	A	ENST00000422774	Transcript	missense_variant	5714/6283	5665/5853	1889/1950	R/W	Agg/Tgg		1		-1	KIAA1549	HGNC	HGNC:22219	protein_coding	YES	CCDS56513.1	ENSP00000416040	Q9HCM3		UPI0001837EBD	NM_001164665.1	deleterious(0)		20/20		hmmpanther:PTHR21590:SF4,hmmpanther:PTHR21590																	MODERATE	1	SNV	1			1										PASS		rs1340191687	.												A	3	1	62	138838094	138838094	T	A	1	0	0	0	0	1	0	0	0	8120	1579	55	4		4	KIAA1549	7	138838094	Missense_Mutation	SNP	T	C3N-00580_TP	6609661	138838094	20507879	481	19941											
OR9A4	0	.	GRCh38	chr7	141919585	141919585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcctctggccggaggaaatCcttctccacttgtgcctccc	6	11	8	16	1	2	0	0	0	2	0	6	2	5	2	6	3	1	0	6	3	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.710C>T	p.Ser237Phe	p.S237F	ENST00000548136	1/1	199	163	36	147	147	0	strelka-varscan-mutect	OR9A4,missense_variant,p.Ser237Phe,ENST00000548136,NM_001001656.1;MGAM,intron_variant,,ENST00000465654,;MGAM,intron_variant,,ENST00000497554,;	T	ENST00000548136	Transcript	missense_variant	769/1093	710/945	237/314	S/F	tCc/tTc		1		1	OR9A4	HGNC	HGNC:15095	protein_coding	YES	CCDS43661.1	ENSP00000448789	Q8NGU2	A0A126GVB1	UPI0000041D24	NM_001001656.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF216,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1476621765	.												T	3	4	62	141919585	141919585	C	T	1	0	0	0	0	1	0	0	0	11316	855	30	3		3	OR9A4	7	141919585	Missense_Mutation	SNP	C	C3N-00580_TP	3081491	141919585	17426388	482	19942											
MGAM	0	.	GRCh38	chr7	142030663	142030663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagccatctccaacaactCttcctcaagtaaaccctatg	12	10	3	16	0	3	0	1	0	2	0	6	0	5	0	5	0	4	1	5	0	6	3			C3N-00580_TP	C3N-00580_NB	C	C																c.1376C>A	p.Ser459Tyr	p.S459Y	ENST00000549489	12/48	211	128	83	185	185	0	strelka-varscan-mutect	MGAM,missense_variant,p.Ser459Tyr,ENST00000475668,;MGAM,missense_variant,p.Ser459Tyr,ENST00000549489,NM_004668.2;MGAM,missense_variant,p.Ser459Tyr,ENST00000620571,;MGAM,non_coding_transcript_exon_variant,,ENST00000495045,;	A	ENST00000549489	Transcript	missense_variant	1471/6525	1376/5574	459/1857	S/Y	tCt/tAt	COSM5248080,COSM5248081,COSM5248082	1		1	MGAM	HGNC	HGNC:7043	protein_coding	YES	CCDS47727.1	ENSP00000447378	O43451		UPI000183CB7B	NM_004668.2	deleterious(0.02)		12/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF63,Pfam_domain:PF01055,Superfamily_domains:SSF51445											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	62	142030663	142030663	C	A	1	0	0	0	0	1	0	0	0	9499	913	32	2		2	MGAM	7	142030663	Missense_Mutation	SNP	C	C3N-00580_TP	111078	142030663	17315310	483	19943											
MGAM2	0	.	GRCh38	chr7	142141098	142141098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagtgtggatcttggggagCaatggctttgctgttgggga	7	12	18	4	0	1	1	0	0	1	1	1	4	1	4	0	6	2	4	0	6	1	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1296C>A	p.Ser432Arg	p.S432R	ENST00000477922	12/48	228	178	50	165	165	0	strelka-varscan-mutect	MGAM2,missense_variant,p.Ser432Arg,ENST00000477922,NM_001293626.1;MGAM2,missense_variant,p.Ser432Arg,ENST00000550469,;	A	ENST00000477922	Transcript	missense_variant	1350/7867	1296/7548	432/2515	S/R	agC/agA		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	deleterious(0.01)		12/48		Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF55,Superfamily_domains:SSF51445																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	142141098	142141098	C	A	1	0	0	0	0	1	0	0	0	9500	709	25	2		2	MGAM2	7	142141098	Missense_Mutation	SNP	C	C3N-00580_TP	110435	142141098	17204875	484	19944											
OR9A2	0	.	GRCh38	chr7	143026301	143026301	+	Frame_Shift_Del	DEL	T	T	-																															gaaaggattcaggaagggggTtaacacagaaaccaacaggg																								novel		C3N-00580_TP	C3N-00580_NB	T	T																c.832delA	p.Thr278ProfsTer4	p.T278Pfs*4	ENST00000350513	1/1	149	137	12	116	116	0	sindel-varindel-pindel	OR9A2,frameshift_variant,p.Thr278ProfsTer4,ENST00000350513,NM_001001658.1;	-	ENST00000350513	Transcript	frameshift_variant	895/1038	832/933	278/310	T/X	Acc/cc		1		-1	OR9A2	HGNC	HGNC:15093	protein_coding	YES	CCDS34767.1	ENSP00000316518	Q8NGT5		UPI0000041C18	NM_001001658.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF216,hmmpanther:PTHR24242,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	HIGH	1	deletion				1										PASS		.	.												-	7	5	62	143026301	143026301	T	-	1	0	1	0	1	0	0	0	0	11315	1725	60	0		0	OR9A2	7	143026301	Frame_Shift_Del	DEL	T	C3N-00580_TP	885203	143026301	16319672	485	19945											
OR6B1	0	.	GRCh38	chr7	144004157	144004157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attggtgctgcaaaatcggcCactgcacaagcctatgtact	11	10	9	11	1	0	0	0	0	0	0	1	0	0	0	2	2	5	4	2	2	5	3	rs756975238		C3N-00580_TP	C3N-00580_NB	C	C																c.161C>T	p.Pro54Leu	p.P54L	ENST00000408922	1/1	251	143	108	222	222	0	strelka-varscan-mutect	OR6B1,missense_variant,p.Pro54Leu,ENST00000408922,NM_001005281.1;	T	ENST00000408922	Transcript	missense_variant	229/1055	161/936	54/311	P/L	cCa/cTa	rs756975238	1		1	OR6B1	HGNC	HGNC:8354	protein_coding	YES	CCDS43667.1	ENSP00000386151	O95007		UPI0000041B18	NM_001005281.1	tolerated(0.16)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF284,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs756975238	.												T	3	4	62	144004157	144004157	C	T	1	0	0	0	0	1	0	0	0	11255	594	21	3		3	OR6B1	7	144004157	Missense_Mutation	SNP	C	C3N-00580_TP	977856	144004157	15341816	486	19946											
OR2A12	0	.	GRCh38	chr7	144095450	144095450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacagagtgtctgattttgGtgatgatgtgctatgatcgg	8	16	13	4	1	1	5	0	4	1	1	2	5	1	5	0	2	2	1	0	2	2	4	rs755561676		C3N-00580_TP	C3N-00580_NB	G	G																c.343G>T	p.Val115Leu	p.V115L	ENST00000408949	1/1	242	171	71	164	164	0	strelka-varscan-mutect	OR2A12,missense_variant,p.Val115Leu,ENST00000408949,NM_001004135.1;	T	ENST00000408949	Transcript	missense_variant	403/1046	343/933	115/310	V/L	Gtg/Ttg	rs755561676	1		1	OR2A12	HGNC	HGNC:15082	protein_coding	YES	CCDS43670.1	ENSP00000386174	Q8NGT7	A4D2G4	UPI0000061E6F	NM_001004135.1	tolerated(0.08)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF50,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs755561676	.												T	3	4	62	144095450	144095450	G	T	1	0	0	0	0	1	0	0	0	11052	1261	44	2		2	OR2A12	7	144095450	Missense_Mutation	SNP	G	C3N-00580_TP	91293	144095450	15250523	487	19947											
SSPO	0	.	GRCh38	chr7	149825937	149825937	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctggactgccaaaacTggtatggctgcagccacgcc	9	7	12	13	1	0	0	0	0	0	0	0	1	0	1	3	3	6	5	3	3	3	1	rs764697985		C3N-00580_TP	C3N-00580_NB	T	T																c.14254T>A	p.Cys4752Ser	p.C4752S	ENST00000378016	97/107	153	82	71	148	148	0	strelka-varscan-mutect	SSPO,missense_variant,p.Cys4752Ser,ENST00000378016,NM_198455.2;SSPO,splice_region_variant,,ENST00000623373,;SSPO,splice_region_variant,,ENST00000492965,;SSPO,intron_variant,,ENST00000488835,;SSPO,intron_variant,,ENST00000461331,;SSPO,splice_region_variant,,ENST00000465639,;SSPO,splice_region_variant,,ENST00000472850,;	A	ENST00000378016	Transcript	missense_variant,splice_region_variant	14254/15589	14254/15453	4752/5150	C/S	Tgc/Agc	rs764697985	1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2	deleterious(0)		97/107		hmmpanther:PTHR11339:SF294,hmmpanther:PTHR11339																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	149825937	149825937	T	A	1	0	0	0	0	1	0	0	0	15566	1594	55	4		4	SSPO	7	149825937	Missense_Mutation	SNP	T	C3N-00580_TP	5730487	149825937	9520036	488	19948											
GIMAP4	0	.	GRCh38	chr7	150572707	150572707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcctgatccagcgcgtgGtgagggagaacaaggaaggc	10	5	18	8	2	0	3	0	2	0	1	1	5	1	4	2	5	2	0	2	5	3	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.637G>T	p.Val213Leu	p.V213L	ENST00000255945	3/3	317	191	126	209	209	0	strelka-varscan-mutect	GIMAP4,missense_variant,p.Val213Leu,ENST00000255945,NM_018326.2;GIMAP4,missense_variant,p.Val227Leu,ENST00000461940,;GIMAP4,downstream_gene_variant,,ENST00000479232,;GIMAP4,non_coding_transcript_exon_variant,,ENST00000494750,;GIMAP4,downstream_gene_variant,,ENST00000478135,;	T	ENST00000255945	Transcript	missense_variant	812/2060	637/990	213/329	V/L	Gtg/Ttg		1		1	GIMAP4	HGNC	HGNC:21872	protein_coding	YES	CCDS5904.1	ENSP00000255945	Q9NUV9	A0A090N7X0	UPI0000073CB0	NM_018326.2	deleterious(0.04)		3/3		Gene3D:3.40.50.300,Pfam_domain:PF04548,PROSITE_profiles:PS51720,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF57,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1291974882	.												T	3	4	62	150572707	150572707	G	T	1	0	0	0	0	1	0	0	0	6261	1261	44	2		2	GIMAP4	7	150572707	Missense_Mutation	SNP	G	C3N-00580_TP	746770	150572707	8773266	489	19949											
GIMAP2	0	.	GRCh38	chr7	150692776	150692776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattacatgcacgactcaGataacaaagccctaagcaag	16	7	8	10	1	1	1	1	0	0	1	1	3	1	2	1	1	5	2	1	1	5	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.490G>T	p.Asp164Tyr	p.D164Y	ENST00000223293	3/3	338	280	58	252	251	1	strelka-varscan-mutect	GIMAP2,missense_variant,p.Asp164Tyr,ENST00000223293,NM_015660.2;GIMAP2,downstream_gene_variant,,ENST00000474605,;	T	ENST00000223293	Transcript	missense_variant	584/1449	490/1014	164/337	D/Y	Gat/Tat		1		1	GIMAP2	HGNC	HGNC:21789	protein_coding	YES	CCDS5905.1	ENSP00000223293	Q9UG22	A0A090N8H4	UPI000006D114	NM_015660.2	deleterious(0)		3/3		PROSITE_profiles:PS51720,hmmpanther:PTHR10903:SF7,hmmpanther:PTHR10903,Pfam_domain:PF04548,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	150692776	150692776	G	T	1	0	0	0	0	1	0	0	0	6260	942	33	2		2	GIMAP2	7	150692776	Missense_Mutation	SNP	G	C3N-00580_TP	120069	150692776	8653197	490	19950											
KCNH2	0	.	GRCh38	chr7	150951769	150951769	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccgcgccgtactctgagtAgcgatccagcttccgcgcca	6	7	12	16	6	1	1	0	1	1	0	3	2	3	1	5	1	3	3	5	1	2	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1624T>A	p.Tyr542Asn	p.Y542N	ENST00000262186	7/15	150	110	40	96	96	0	strelka-varscan-mutect	KCNH2,missense_variant,p.Tyr542Asn,ENST00000262186,NM_000238.3;KCNH2,missense_variant,p.Tyr202Asn,ENST00000330883,NM_172057.2;KCNH2,missense_variant,p.Tyr426Asn,ENST00000430723,NM_172056.2;KCNH2,non_coding_transcript_exon_variant,,ENST00000532957,;KCNH2,non_coding_transcript_exon_variant,,ENST00000473610,;KCNH2,non_coding_transcript_exon_variant,,ENST00000461280,;	T	ENST00000262186	Transcript	missense_variant	2026/4286	1624/3480	542/1159	Y/N	Tac/Aac		1		-1	KCNH2	HGNC	HGNC:6251	protein_coding	YES	CCDS5910.1	ENSP00000262186	Q12809	A0A090N8Q0	UPI0000062255	NM_000238.3	deleterious(0)		7/15		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF506,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	150951769	150951769	A	T	1	0	0	0	0	1	0	0	0	7948	420	15	4		4	KCNH2	7	150951769	Missense_Mutation	SNP	A	C3N-00580_TP	258993	150951769	8394204	491	19951											
GBX1	0	.	GRCh38	chr7	151167334	151167334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagaggctagcggggcgaggGgcgggaggccagcgggcagc	8	1	23	9	4	0	1	0	0	0	1	0	3	0	2	1	8	3	2	1	8	2	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.215C>A	p.Pro72His	p.P72H	ENST00000297537	1/2	141	85	56	161	161	0	strelka-varscan-mutect	GBX1,missense_variant,p.Pro72His,ENST00000297537,NM_001098834.2;GBX1,intron_variant,,ENST00000475831,;	T	ENST00000297537	Transcript	missense_variant	215/1092	215/1092	72/363	P/H	cCc/cAc		1		-1	GBX1	HGNC	HGNC:4185	protein_coding	YES	CCDS43682.1	ENSP00000297537	Q14549		UPI0000E2658B	NM_001098834.2	deleterious(0)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24334,hmmpanther:PTHR24334:SF2																	MODERATE	1	SNV	2			1										PASS		rs1214690453	.												T	3	4	62	151167334	151167334	G	T	1	0	0	0	0	1	0	0	0	6150	1232	43	2		2	GBX1	7	151167334	Missense_Mutation	SNP	G	C3N-00580_TP	215565	151167334	8178639	492	19952											
KMT2C	0	.	GRCh38	chr7	152265039	152265039	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgaaatgaaaacttactTgcagttctggcacactttgc	13	13	7	8	0	1	2	0	2	1	0	1	2	1	2	0	1	4	3	0	1	5	5			C3N-00580_TP	C3N-00580_NB	T	T																c.1183A>T	p.Lys395Ter	p.K395*	ENST00000262189	8/59	298	280	18	288	288	0	varscan-mutect	KMT2C,stop_gained,p.Lys395Ter,ENST00000262189,NM_170606.2;KMT2C,stop_gained,p.Lys395Ter,ENST00000355193,;KMT2C,stop_gained,p.Lys395Ter,ENST00000558084,;	A	ENST00000262189	Transcript	stop_gained,splice_region_variant	1402/16862	1183/14736	395/4911	K/*	Aaa/Taa	COSM3411840,COSM3411841	1		-1	KMT2C	HGNC	HGNC:13726	protein_coding	YES	CCDS5931.1	ENSP00000262189	Q8NEZ4		UPI0000141B9F	NM_170606.2			8/59		PROSITE_profiles:PS50016,Gene3D:3.30.40.10,Pfam_domain:PF00628,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												A	4	1	62	152265039	152265039	T	A	1	0	0	0	0	0	1	0	0	8297	1826	63	4		4	KMT2C	7	152265039	Nonsense_Mutation	SNP	T	C3N-00580_TP	1097705	152265039	7080934	493	19953											
KMT2C	0	.	GRCh38	chr7	152310076	152310076	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgagcccaacaagtgcCtaaaatgggaaaaatgaaaa	19	6	10	6	0	0	3	0	3	0	0	0	4	0	4	2	1	3	0	2	1	8	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.740-1G>T		p.X247_splice	ENST00000262189		232	137	95	214	214	0	strelka-varscan-mutect	KMT2C,splice_acceptor_variant,,ENST00000262189,NM_170606.2;KMT2C,splice_acceptor_variant,,ENST00000355193,;KMT2C,splice_acceptor_variant,,ENST00000558084,;KMT2C,splice_acceptor_variant,,ENST00000490130,;	A	ENST00000262189	Transcript	splice_acceptor_variant	-/16862	740/14736	247/4911				1		-1	KMT2C	HGNC	HGNC:13726	protein_coding	YES	CCDS5931.1	ENSP00000262189	Q8NEZ4		UPI0000141B9F	NM_170606.2				5/58																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	62	152310076	152310076	C	A	1	0	0	0	0	0	0	1	0	8297	695	24	2		2	KMT2C	7	152310076	Splice_Site	SNP	C	C3N-00580_TP	45037	152310076	7035897	494	19954											
SHH	0	.	GRCh38	chr7	155811822	155811822	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccccggcgctgggttcctaCctgagtcatcagcctgtccg	4	9	12	16	3	2	1	2	1	0	0	4	1	4	1	6	2	2	2	6	2	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.300+1G>T		p.X100_splice	ENST00000297261		604	476	128	483	483	0	strelka-varscan-mutect	SHH,splice_donor_variant,,ENST00000297261,NM_000193.2;SHH,upstream_gene_variant,,ENST00000430104,NM_001310462.1;SHH,upstream_gene_variant,,ENST00000472308,;SHH,upstream_gene_variant,,ENST00000441114,;SHH,upstream_gene_variant,,ENST00000435425,;	A	ENST00000297261	Transcript	splice_donor_variant	-/4454	300/1389	100/462				1		-1	SHH	HGNC	HGNC:10848	protein_coding	YES	CCDS5942.1	ENSP00000297261	Q15465		UPI0000135942	NM_000193.2				1/2																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	62	155811822	155811822	C	A	1	0	0	0	0	0	0	1	0	14539	521	18	2		2	SHH	7	155811822	Splice_Site	SNP	C	C3N-00580_TP	3501746	155811822	3534151	495	19955											
MYOM2	0	.	GRCh38	chr8	2129216	2129216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttacagacgaaatgaaaGtgaactggtgtcacaagtaa	17	10	9	5	1	1	3	1	2	0	1	1	4	1	3	0	1	2	1	0	1	6	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.3784G>C	p.Val1262Leu	p.V1262L	ENST00000262113	32/37	129	72	57	180	180	0	strelka-varscan-mutect	MYOM2,missense_variant,p.Val1262Leu,ENST00000262113,NM_003970.3;MYOM2,missense_variant,p.Val687Leu,ENST00000523438,;MYOM2,non_coding_transcript_exon_variant,,ENST00000520072,;MYOM2,non_coding_transcript_exon_variant,,ENST00000612167,;MYOM2,non_coding_transcript_exon_variant,,ENST00000519631,;MYOM2,non_coding_transcript_exon_variant,,ENST00000621894,;MYOM2,downstream_gene_variant,,ENST00000523443,;	C	ENST00000262113	Transcript	missense_variant	3925/5014	3784/4398	1262/1465	V/L	Gtg/Ctg		1		1	MYOM2	HGNC	HGNC:7614	protein_coding	YES	CCDS5957.1	ENSP00000262113	P54296		UPI000442D01B	NM_003970.3	deleterious(0.04)		32/37		Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1233888967	.												C	3	2	62	2129216	2129216	G	C	1	0	0	0	0	1	0	0	0	10093	1029	36	4		4	MYOM2	8	2129216	Missense_Mutation	SNP	G	C3N-00580_TP		2129216	143009420	496	19956											
MYOM2	0	.	GRCh38	chr8	2144856	2144856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatcaagaataagtatGgcggggagaagatcgacgtg	15	7	13	6	3	2	3	2	0	0	3	3	5	2	3	0	3	1	1	0	3	6	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.4273G>T	p.Gly1425Cys	p.G1425C	ENST00000262113	37/37	137	88	49	366	366	0	strelka-varscan-mutect	MYOM2,missense_variant,p.Gly1425Cys,ENST00000262113,NM_003970.3;MYOM2,missense_variant,p.Gly850Cys,ENST00000523438,;MYOM2,non_coding_transcript_exon_variant,,ENST00000520298,;MYOM2,non_coding_transcript_exon_variant,,ENST00000612167,;MYOM2,intron_variant,,ENST00000520779,;MYOM2,downstream_gene_variant,,ENST00000520072,;MYOM2,downstream_gene_variant,,ENST00000519631,;MYOM2,downstream_gene_variant,,ENST00000621894,;MYOM2,downstream_gene_variant,,ENST00000518513,;	T	ENST00000262113	Transcript	missense_variant	4414/5014	4273/4398	1425/1465	G/C	Ggc/Tgc		1		1	MYOM2	HGNC	HGNC:7614	protein_coding	YES	CCDS5957.1	ENSP00000262113	P54296		UPI000442D01B	NM_003970.3	deleterious(0)		37/37		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	2144856	2144856	G	T	1	0	0	0	0	1	0	0	0	10093	1348	47	2		2	MYOM2	8	2144856	Missense_Mutation	SNP	G	C3N-00580_TP	15640	2144856	142993780	497	19957											
CSMD1	0	.	GRCh38	chr8	3096973	3096973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagttaaaataattaccCggataccctggactgagaat	14	10	10	7	1	0	1	0	1	0	1	0	5	0	4	2	3	2	1	2	3	6	4			C3N-00580_TP	C3N-00580_NB	C	C																c.7017G>A	p.=	p.P2339P	ENST00000520002	48/71	80	53	27	136	136	0	strelka-varscan-mutect	CSMD1,synonymous_variant,p.=,ENST00000537824,;CSMD1,synonymous_variant,p.=,ENST00000520002,;CSMD1,synonymous_variant,p.=,ENST00000602557,;CSMD1,synonymous_variant,p.=,ENST00000635120,NM_033225.5;CSMD1,synonymous_variant,p.=,ENST00000400186,;CSMD1,synonymous_variant,p.=,ENST00000602723,;CSMD1,intron_variant,,ENST00000335551,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523062,;	T	ENST00000520002	Transcript	synonymous_variant	7573/11740	7017/10698	2339/3565	P	ccG/ccA	COSM5469249,COSM5469250	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB				48/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854											1,1						LOW	1	SNV	5		1,1	1										PASS		rs1397116647	.												T	2	4	62	3096973	3096973	C	T	1	0	0	0	0	0	0	0	1	3745	639	23	1		1	CSMD1	8	3096973	Silent	SNP	C	C3N-00580_TP	952117	3096973	142041663	498	19958											
XKR5	0	.	GRCh38	chr8	6811600	6811600	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgccttcttgttgtgaGgatgtggccacttctgcagt	4	14	14	9	0	2	1	0	1	2	0	2	2	2	2	2	3	2	3	2	3	0	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1659C>A	p.=	p.S553S	ENST00000618742	7/7	111	69	42	188	188	0	strelka-varscan-mutect	XKR5,synonymous_variant,p.=,ENST00000618742,NM_207411.4,NM_001289973.1;XKR5,3_prime_UTR_variant,,ENST00000618990,;	T	ENST00000618742	Transcript	synonymous_variant	1810/4893	1659/2061	553/686	S	tcC/tcA		1		-1	XKR5	HGNC	HGNC:20782	protein_coding	YES		ENSP00000483879		A0A087X143	UPI0000EE786F	NM_207411.4,NM_001289973.1			7/7																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	6811600	6811600	G	T	1	0	0	0	0	0	0	0	1	17993	987	35	2		2	XKR5	8	6811600	Silent	SNP	G	C3N-00580_TP	3714627	6811600	138327036	499	19959											
DEFA6	0	.	GRCh38	chr8	6925873	6925873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacttgagcttgcatcctCtgcaaaggagacggcaaagt	13	8	11	9	1	1	3	0	1	1	2	2	4	2	3	1	2	3	4	1	2	3	2	rs778595451		C3N-00580_TP	C3N-00580_NB	C	C																c.163G>A	p.Glu55Lys	p.E55K	ENST00000297436	1/2	63	39	24	129	129	0	strelka-varscan-mutect	DEFA6,missense_variant,p.Glu55Lys,ENST00000297436,NM_001926.3;GS1-24F4.3,upstream_gene_variant,,ENST00000526235,;	T	ENST00000297436	Transcript	missense_variant	204/469	163/303	55/100	E/K	Gag/Aag	rs778595451,COSM5409778	1		-1	DEFA6	HGNC	HGNC:2765	protein_coding	YES	CCDS5960.1	ENSP00000297436	Q01524		UPI0000129125	NM_001926.3	tolerated(1)		1/2		Pfam_domain:PF00879,PIRSF_domain:PIRSF001875,hmmpanther:PTHR11876,hmmpanther:PTHR11876:SF3											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs778595451	.												T	3	4	62	6925873	6925873	C	T	1	0	0	0	0	1	0	0	0	4194	922	32	3		3	DEFA6	8	6925873	Missense_Mutation	SNP	C	C3N-00580_TP	114273	6925873	138212763	500	19960											
USP17L1	0	.	GRCh38	chr8	7333213	7333213	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacttctgccaaggtccTcatccttgtcttgaagagat	10	12	7	12	0	3	2	1	1	2	1	5	3	5	2	3	1	1	0	3	1	2	3	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.827T>A	p.Leu276His	p.L276H	ENST00000529559	1/1	88	53	35	144	144	0	varscan-mutect	USP17L1,missense_variant,p.Leu276His,ENST00000529559,NM_001256873.1;USP17L4,upstream_gene_variant,,ENST00000526929,NM_001256874.1;FAM66B,intron_variant,,ENST00000606573,;FAM66B,intron_variant,,ENST00000529456,;	A	ENST00000529559	Transcript	missense_variant	827/1593	827/1593	276/530	L/H	cTc/cAc		1		1	USP17L1	HGNC	HGNC:37182	protein_coding	YES	CCDS78298.1	ENSP00000485364	Q7RTZ2		UPI00001D9634	NM_001256873.1	deleterious(0)		1/1		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF511,Superfamily_domains:SSF54001																	MODERATE		SNV				1										PASS		.	.												A	3	1	62	7333213	7333213	T	A	1	0	0	0	0	1	0	0	0	17582	1551	54	4		4	USP17L1	8	7333213	Missense_Mutation	SNP	T	C3N-00580_TP	407340	7333213	137805423	501	19961											
MTMR9	0	.	GRCh38	chr8	11309676	11309676	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgcctgcctagcggctcAgtgcatcgacaggtaaagtg	10	8	12	11	2	1	0	1	0	0	0	2	1	1	0	2	2	5	3	2	2	4	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.959A>T	p.Gln320Leu	p.Q320L	ENST00000221086	6/10	90	44	46	112	112	0	varscan-mutect	MTMR9,missense_variant,p.Gln320Leu,ENST00000221086,NM_015458.3;MTMR9,missense_variant,p.Gln235Leu,ENST00000526292,;MTMR9,3_prime_UTR_variant,,ENST00000530200,;	T	ENST00000221086	Transcript	missense_variant	1432/7481	959/1650	320/549	Q/L	cAg/cTg		1		1	MTMR9	HGNC	HGNC:14596	protein_coding	YES	CCDS5979.1	ENSP00000221086	Q96QG7		UPI0000073CA7	NM_015458.3	deleterious(0)		6/10		PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF56,Pfam_domain:PF06602,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	11309676	11309676	A	T	1	0	0	0	0	1	0	0	0	9937	188	7	4		4	MTMR9	8	11309676	Missense_Mutation	SNP	A	C3N-00580_TP	3976463	11309676	133828960	502	19962											
ERLIN2	0	.	GRCh38	chr8	37749582	37749582	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agattgatgaaaatctcaaaCtggctttgcaacaggacctg	14	10	9	8	0	1	3	1	2	1	1	2	4	1	4	1	2	3	2	1	2	4	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.448C>T	p.=	p.L150L	ENST00000276461	7/12	1062	1000	62	591	590	1	strelka-varscan-mutect	ERLIN2,synonymous_variant,p.=,ENST00000276461,NM_007175.6;ERLIN2,synonymous_variant,p.=,ENST00000519638,;ERLIN2,synonymous_variant,p.=,ENST00000521644,;ERLIN2,synonymous_variant,p.=,ENST00000518526,;ERLIN2,downstream_gene_variant,,ENST00000518586,;ERLIN2,downstream_gene_variant,,ENST00000523887,;ERLIN2,downstream_gene_variant,,ENST00000335171,NM_001003790.3;ERLIN2,downstream_gene_variant,,ENST00000397228,NM_001003791.2;ERLIN2,downstream_gene_variant,,ENST00000523107,;ERLIN2,non_coding_transcript_exon_variant,,ENST00000521993,;RP11-863K10.4,upstream_gene_variant,,ENST00000521192,;	T	ENST00000276461	Transcript	synonymous_variant	515/6073	448/1020	150/339	L	Ctg/Ttg		1		1	ERLIN2	HGNC	HGNC:1356	protein_coding	YES	CCDS6095.1	ENSP00000276461	O94905		UPI0000073DE1	NM_007175.6			7/12		Pfam_domain:PF01145,hmmpanther:PTHR15351,hmmpanther:PTHR15351:SF4,SMART_domains:SM00244																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	37749582	37749582	C	T	1	0	0	0	0	0	0	0	1	5090	564	20	3		3	ERLIN2	8	37749582	Silent	SNP	C	C3N-00580_TP	26439906	37749582	107389054	503	19963											
VDAC3	0	.	GRCh38	chr8	42402001	42402001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaaggctgcggacttccaGctgcacacacatgtgtgagt	10	9	11	11	1	0	1	0	1	0	0	1	2	1	2	1	2	4	3	1	2	2	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.540G>T	p.Gln180His	p.Q180H	ENST00000521158	8/11	367	296	71	265	265	0	strelka-varscan-mutect	VDAC3,missense_variant,p.Gln179His,ENST00000022615,NM_005662.6;VDAC3,missense_variant,p.Gln180His,ENST00000521158,NM_001135694.2;VDAC3,intron_variant,,ENST00000522572,;VDAC3,downstream_gene_variant,,ENST00000518563,;VDAC3,downstream_gene_variant,,ENST00000522069,;VDAC3,downstream_gene_variant,,ENST00000520115,;VDAC3,3_prime_UTR_variant,,ENST00000522010,;VDAC3,non_coding_transcript_exon_variant,,ENST00000521348,;VDAC3,downstream_gene_variant,,ENST00000519072,;VDAC3,upstream_gene_variant,,ENST00000524291,;VDAC3,downstream_gene_variant,,ENST00000518495,;VDAC3,downstream_gene_variant,,ENST00000522178,;	T	ENST00000521158	Transcript	missense_variant	608/949	540/855	180/284	Q/H	caG/caT		1		1	VDAC3	HGNC	HGNC:12674	protein_coding	YES	CCDS47850.1	ENSP00000428845	Q9Y277		UPI000002B16C	NM_001135694.2	tolerated(0.16)		8/11		hmmpanther:PTHR11743,hmmpanther:PTHR11743:SF28,Pfam_domain:PF01459,Gene3D:2.40.160.10																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	42402001	42402001	G	T	1	0	0	0	0	1	0	0	0	17693	962	34	2		2	VDAC3	8	42402001	Missense_Mutation	SNP	G	C3N-00580_TP	4652419	42402001	102736635	504	19964											
SLC20A2	0	.	GRCh38	chr8	42459906	42459906	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatccttacctggtgctccTgtgtacatgatggaaaagac	10	11	11	9	0	0	2	0	1	0	1	2	4	2	4	3	3	3	2	3	3	4	2	rs375338138		C3N-00580_TP	C3N-00580_NB	T	T																c.603A>T	p.=	p.T201T	ENST00000342228	5/11	199	90	109	141	141	0	strelka-varscan-mutect	SLC20A2,synonymous_variant,p.=,ENST00000342228,NM_006749.4;SLC20A2,synonymous_variant,p.=,ENST00000520262,NM_001257180.1;SLC20A2,synonymous_variant,p.=,ENST00000520179,NM_001257181.1;SLC20A2,non_coding_transcript_exon_variant,,ENST00000518660,;SLC20A2,non_coding_transcript_exon_variant,,ENST00000522401,;SLC20A2,downstream_gene_variant,,ENST00000524211,;	A	ENST00000342228	Transcript	synonymous_variant	973/3657	603/1959	201/652	T	acA/acT	rs375338138	1		-1	SLC20A2	HGNC	HGNC:10947	protein_coding	YES	CCDS6132.1	ENSP00000340465	Q08357		UPI000006DC58	NM_006749.4			5/11		Transmembrane_helices:TMhelix,hmmpanther:PTHR11101,hmmpanther:PTHR11101:SF15,Pfam_domain:PF01384																	LOW	1	SNV	1			1										PASS		rs375338138	.												A	2	1	62	42459906	42459906	T	A	1	0	0	0	0	0	0	0	1	14705	1567	55	4		4	SLC20A2	8	42459906	Silent	SNP	T	C3N-00580_TP	57905	42459906	102678730	505	19965											
PXDNL	0	.	GRCh38	chr8	51409023	51409023	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacggccgctggcacacgcGgggctggagcgcgcgaagag	7	2	20	12	7	0	1	0	0	0	1	0	4	0	3	1	6	1	3	1	6	1	0			C3N-00580_TP	C3N-00580_NB	G	G																c.2601C>A	p.=	p.P867P	ENST00000356297	17/23	273	143	130	201	201	0	strelka-varscan-mutect	PXDNL,synonymous_variant,p.=,ENST00000356297,NM_144651.4;PXDNL,upstream_gene_variant,,ENST00000522933,;PXDNL,synonymous_variant,p.=,ENST00000522628,;	T	ENST00000356297	Transcript	synonymous_variant	2702/4805	2601/4392	867/1463	P	ccC/ccA	COSM4482403,COSM4482404,COSM4879067,COSM4879068	1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4			17/23		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Pfam_domain:PF03098,Superfamily_domains:SSF48113											1,1,1,1						LOW	1	SNV	1		1,1,1,1	1										PASS		.	.												T	2	4	62	51409023	51409023	G	T	1	0	0	0	0	0	0	0	1	13002	1103	39	1		1	PXDNL	8	51409023	Silent	SNP	G	C3N-00580_TP	8949117	51409023	93729613	506	19966											
PXDNL	0	.	GRCh38	chr8	51449012	51449012	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttctaatacctgtttttgtCcagacaataacaggaggtgg	11	13	10	7	0	1	1	0	0	1	1	2	2	2	2	2	3	2	2	2	3	4	6	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1356G>C	p.Trp452Cys	p.W452C	ENST00000356297	11/23	414	339	75	334	334	0	strelka-varscan-mutect	PXDNL,missense_variant,p.Trp452Cys,ENST00000356297,NM_144651.4;	G	ENST00000356297	Transcript	missense_variant	1457/4805	1356/4392	452/1463	W/C	tgG/tgC		1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4	deleterious(0)		11/23		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1375885496	.												G	3	3	62	51449012	51449012	C	G	1	0	0	0	0	1	0	0	0	13002	856	30	4		4	PXDNL	8	51449012	Missense_Mutation	SNP	C	C3N-00580_TP	39989	51449012	93689624	507	19967											
XKR4	0	.	GRCh38	chr8	55523536	55523536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcgtccactgtgagaCagaattctgtatcaccaaat	12	11	8	10	1	2	2	1	1	1	2	4	4	3	3	2	1	0	1	2	1	3	2			C3N-00580_TP	C3N-00580_NB	C	C																c.1262C>A	p.Thr421Lys	p.T421K	ENST00000327381	3/3	328	159	169	234	234	0	strelka-varscan-mutect	XKR4,missense_variant,p.Thr421Lys,ENST00000327381,NM_052898.1;XKR4,missense_variant,p.Thr421Lys,ENST00000622811,;RP11-628E19.2,upstream_gene_variant,,ENST00000522918,;XKR4,upstream_gene_variant,,ENST00000518261,;	A	ENST00000327381	Transcript	missense_variant	1362/19880	1262/1953	421/650	T/K	aCa/aAa	COSM3951732	1		1	XKR4	HGNC	HGNC:29394	protein_coding	YES	CCDS34893.1	ENSP00000328326	Q5GH76		UPI000016098C	NM_052898.1	deleterious(0)		3/3		hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF14,Pfam_domain:PF09815											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	62	55523536	55523536	C	A	1	0	0	0	0	1	0	0	0	17992	478	17	2		2	XKR4	8	55523536	Missense_Mutation	SNP	C	C3N-00580_TP	4074524	55523536	89615100	508	19968											
NKAIN3	0	.	GRCh38	chr8	62589731	62589731	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagtatacagtgtggactgcCctctgggtcacctggaatgt	8	12	12	9	0	2	0	1	0	1	0	2	2	2	2	2	3	2	1	2	3	4	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.210C>A	p.=	p.A70A	ENST00000523211	3/7	202	181	21	140	140	0	strelka-varscan-mutect	NKAIN3,synonymous_variant,p.=,ENST00000523211,;NKAIN3,intron_variant,,ENST00000524201,;NKAIN3,non_coding_transcript_exon_variant,,ENST00000519049,;NKAIN3,non_coding_transcript_exon_variant,,ENST00000523367,;	A	ENST00000523211	Transcript	synonymous_variant	342/1988	210/594	70/197	A	gcC/gcA		1		1	NKAIN3	HGNC	HGNC:26829	protein_coding	YES		ENSP00000429073	Q8N8D7		UPI000006F596				3/7		hmmpanther:PTHR13084:SF2,hmmpanther:PTHR13084,Pfam_domain:PF05640,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	62	62589731	62589731	C	A	1	0	0	0	0	0	0	0	1	10472	610	22	2		2	NKAIN3	8	62589731	Silent	SNP	C	C3N-00580_TP	7066195	62589731	82548905	509	19969											
DNAJC5B	0	.	GRCh38	chr8	66080521	66080521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtccccagaggatctggagGagcagatcaagtctgacatg	11	8	13	9	0	3	3	1	1	2	2	4	6	4	6	2	3	1	1	2	3	1	0			C3N-00580_TP	C3N-00580_NB	G	G																c.478G>A	p.Glu160Lys	p.E160K	ENST00000276570	5/6	204	190	14	101	101	0	strelka-varscan-mutect	DNAJC5B,missense_variant,p.Glu160Lys,ENST00000276570,NM_033105.4;DNAJC5B,downstream_gene_variant,,ENST00000522619,;DNAJC5B,non_coding_transcript_exon_variant,,ENST00000519330,;DNAJC5B,downstream_gene_variant,,ENST00000524076,;	A	ENST00000276570	Transcript	missense_variant	765/1382	478/600	160/199	E/K	Gag/Aag	COSM3650212	1		1	DNAJC5B	HGNC	HGNC:24138	protein_coding	YES	CCDS6183.1	ENSP00000276570	Q9UF47	A0A024R7Z1	UPI0000050F10	NM_033105.4	tolerated(0.13)		5/6													1						MODERATE	1	SNV	1		1	1										PASS		rs1217304685	.												A	3	1	62	66080521	66080521	G	A	1	0	0	0	0	1	0	0	0	4464	1175	41	3		3	DNAJC5B	8	66080521	Missense_Mutation	SNP	G	C3N-00580_TP	3490790	66080521	79058115	510	19970											
MYBL1	0	.	GRCh38	chr8	66576280	66576280	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatggctccttcattgtgCtgaattctcattaatttaac	9	17	5	10	0	2	1	2	1	1	0	5	1	4	1	2	1	2	2	2	1	3	6	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1197G>A	p.=	p.Q399Q	ENST00000522677	10/16	512	199	313	327	327	0	strelka-varscan-mutect	MYBL1,synonymous_variant,p.=,ENST00000522677,NM_001080416.3;MYBL1,synonymous_variant,p.=,ENST00000524176,NM_001294282.1,NM_001144755.2;MYBL1,intron_variant,,ENST00000517885,;	T	ENST00000522677	Transcript	synonymous_variant	1608/5192	1197/2259	399/752	Q	caG/caA		1		-1	MYBL1	HGNC	HGNC:7547	protein_coding	YES	CCDS47867.1	ENSP00000429633	P10243		UPI000012FADE	NM_001080416.3			10/16		hmmpanther:PTHR10641:SF492,hmmpanther:PTHR10641																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	66576280	66576280	C	T	1	0	0	0	0	0	0	0	1	10009	796	28	3		3	MYBL1	8	66576280	Silent	SNP	C	C3N-00580_TP	495759	66576280	78562356	511	19971											
XKR9	0	.	GRCh38	chr8	70681109	70681109	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagttcttggcattataatCtacgtaactgatttaattgt	11	18	6	6	1	3	1	1	1	2	0	3	1	3	1	0	1	2	3	0	1	5	9	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.51C>A	p.=	p.I17I	ENST00000408926	3/5	255	101	154	145	144	1	strelka-varscan-mutect	XKR9,synonymous_variant,p.=,ENST00000408926,NM_001287258.1,NM_001011720.1,NM_001287260.1;XKR9,synonymous_variant,p.=,ENST00000520030,NM_001287259.1;XKR9,synonymous_variant,p.=,ENST00000519350,;XKR9,intron_variant,,ENST00000520273,;XKR9,synonymous_variant,p.=,ENST00000520092,;	A	ENST00000408926	Transcript	synonymous_variant	585/3174	51/1122	17/373	I	atC/atA		1		1	XKR9	HGNC	HGNC:20937	protein_coding	YES	CCDS34905.1	ENSP00000386141	Q5GH70		UPI00004C7A9F	NM_001287258.1,NM_001011720.1,NM_001287260.1			3/5		Pfam_domain:PF09815,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF6,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	70681109	70681109	C	A	1	0	0	0	0	0	0	0	1	17997	903	32	2		2	XKR9	8	70681109	Silent	SNP	C	C3N-00580_TP	4104829	70681109	74457527	512	19972											
HNF4G	0	.	GRCh38	chr8	75556013	75556013	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagctcacgcaggggagcActtactgcttggagctacaa	11	7	13	10	1	1	1	1	0	0	1	1	4	1	3	0	3	6	5	0	3	3	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.647A>T	p.His216Leu	p.H216L	ENST00000396423	6/10	107	58	49	99	99	0	strelka-varscan-mutect	HNF4G,missense_variant,p.His216Leu,ENST00000396423,NM_004133.4;HNF4G,missense_variant,p.His179Leu,ENST00000354370,;HNF4G,downstream_gene_variant,,ENST00000396419,;	T	ENST00000396423	Transcript	missense_variant	771/4209	647/1338	216/445	H/L	cAc/cTc		1		1	HNF4G	HGNC	HGNC:5026	protein_coding	YES	CCDS6220.2	ENSP00000379701	Q14541	F1D8Q4	UPI0000D47E07	NM_004133.4	deleterious(0.01)		6/10		hmmpanther:PTHR24083:SF42,hmmpanther:PTHR24083,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR00398																	MODERATE	1	SNV	1			1										PASS		rs1200797943	.												T	3	4	62	75556013	75556013	A	T	1	0	0	0	0	1	0	0	0	7145	159	6	4		4	HNF4G	8	75556013	Missense_Mutation	SNP	A	C3N-00580_TP	4874904	75556013	69582623	513	19973											
ZFHX4	0	.	GRCh38	chr8	76778310	76778310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgaatctggtacaacatGtccgttcggtgaagcatcag	11	11	11	8	2	2	2	1	2	1	0	4	2	3	2	1	2	3	4	1	2	4	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.3196G>A	p.Val1066Ile	p.V1066I	ENST00000521891	4/11	654	260	394	588	588	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Val1066Ile,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Val1040Ile,ENST00000518282,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000517683,;ZFHX4,missense_variant,p.Val11Ile,ENST00000523625,;ZFHX4,missense_variant,p.Val9Ile,ENST00000519536,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000524290,;	A	ENST00000521891	Transcript	missense_variant	3644/14019	3196/10851	1066/3616	V/I	Gtc/Atc		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0.01)		4/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00355,SMART_domains:SM00451																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	76778310	76778310	G	A	1	0	0	0	0	1	0	0	0	18213	1377	48	3		3	ZFHX4	8	76778310	Missense_Mutation	SNP	G	C3N-00580_TP	1222297	76778310	68360326	514	19974											
ZFHX4	0	.	GRCh38	chr8	76855491	76855491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcaaccacacctaccaCggaggtctgcgatgacaaat	13	6	8	14	2	1	1	0	1	1	0	1	3	1	2	4	2	4	1	4	2	3	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.8570C>A	p.Thr2857Lys	p.T2857K	ENST00000521891	10/11	181	64	117	143	143	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Thr2857Lys,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Thr2831Lys,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	A	ENST00000521891	Transcript	missense_variant	9018/14019	8570/10851	2857/3616	T/K	aCg/aAg		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0.03)		10/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	MODERATE	1	SNV	5			1										PASS		rs1230902501	.												A	3	1	62	76855491	76855491	C	A	1	0	0	0	0	1	0	0	0	18213	536	19	1		1	ZFHX4	8	76855491	Missense_Mutation	SNP	C	C3N-00580_TP	77181	76855491	68283145	515	19975											
CNGB3	0	.	GRCh38	chr8	86739703	86739703	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgactggagttgacttggTtttgagagatttctcttcac	7	16	11	7	1	2	4	1	3	1	1	3	6	2	5	0	2	0	2	0	2	0	6			C3N-00580_TP	C3N-00580_NB	T	T																c.163A>C	p.Thr55Pro	p.T55P	ENST00000320005	2/18	666	599	67	394	394	0	strelka-varscan-mutect	CNGB3,missense_variant,p.Thr55Pro,ENST00000320005,NM_019098.4;RP11-386D6.1,intron_variant,,ENST00000519041,;CNGB3,non_coding_transcript_exon_variant,,ENST00000519777,;	G	ENST00000320005	Transcript	missense_variant	211/4347	163/2430	55/809	T/P	Acc/Ccc	COSM751545,COSM85131	1		-1	CNGB3	HGNC	HGNC:2153	protein_coding	YES	CCDS6244.1	ENSP00000316605	Q9NQW8		UPI000014076F	NM_019098.4	tolerated(0.16)		2/18		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF385											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs778795284	.												G	3	3	62	86739703	86739703	T	G	1	0	0	0	0	1	0	0	0	3381	1725	60	5		5	CNGB3	8	86739703	Missense_Mutation	SNP	T	C3N-00580_TP	9884212	86739703	58398933	516	19976											
NBN	0	.	GRCh38	chr8	89953351	89953351	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttcctcctgtttttgaaCtttcacatcaatttctaact	9	19	2	11	0	4	1	2	1	2	0	6	1	6	1	2	0	2	1	2	0	3	6	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1738G>C	p.Val580Leu	p.V580L	ENST00000265433	11/16	253	232	21	201	201	0	strelka-varscan-mutect	NBN,missense_variant,p.Val580Leu,ENST00000265433,NM_002485.4;NBN,missense_variant,p.Val498Leu,ENST00000409330,;NBN,missense_variant,p.Val2Leu,ENST00000613033,;NBN,3_prime_UTR_variant,,ENST00000396252,NM_001024688.2;	G	ENST00000265433	Transcript	missense_variant	1893/4666	1738/2265	580/754	V/L	Gtt/Ctt		1		-1	NBN	HGNC	HGNC:7652	protein_coding	YES	CCDS6249.1	ENSP00000265433	O60934		UPI0000073BF4	NM_002485.4	tolerated(0.31)		11/16		hmmpanther:PTHR12162,hmmpanther:PTHR12162:SF0,PIRSF_domain:PIRSF011869																	MODERATE	1	SNV	1			1										PASS		rs878854506	.												G	3	3	62	89953351	89953351	C	G	1	0	0	0	0	1	0	0	0	10202	565	20	4		4	NBN	8	89953351	Missense_Mutation	SNP	C	C3N-00580_TP	3213648	89953351	55185285	517	19977											
POP1	0	.	GRCh38	chr8	98127631	98127631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgacagcggcaaaccaGagtcaacccccattctctgc	11	7	7	16	2	3	1	2	0	1	1	4	2	3	1	3	1	4	1	3	1	2	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.179G>T	p.Arg60Ile	p.R60I	ENST00000401707	3/16	946	745	201	611	611	0	strelka-varscan-mutect	POP1,missense_variant,p.Arg60Ile,ENST00000401707,NM_001145860.1,NM_001145861.1;POP1,missense_variant,p.Arg60Ile,ENST00000349693,NM_015029.2;POP1,missense_variant,p.Arg60Ile,ENST00000522319,;	T	ENST00000401707	Transcript	missense_variant	260/4719	179/3075	60/1024	R/I	aGa/aTa		1		1	POP1	HGNC	HGNC:30129	protein_coding	YES	CCDS6277.1	ENSP00000385787	Q99575		UPI0000131F33	NM_001145860.1,NM_001145861.1	deleterious(0.01)		3/16		hmmpanther:PTHR22731,hmmpanther:PTHR22731:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	62	98127631	98127631	G	T	1	0	0	0	0	1	0	0	0	12365	942	33	2		2	POP1	8	98127631	Missense_Mutation	SNP	G	C3N-00580_TP	8174280	98127631	47011005	518	19978											
UBR5	0	.	GRCh38	chr8	102329374	102329374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagttcagaatacagagccCcaatacagatgaattttgtt	15	11	8	7	0	1	4	1	1	0	3	1	5	1	4	2	0	3	2	2	0	6	6	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1124G>T	p.Gly375Val	p.G375V	ENST00000520539	10/59	253	181	72	198	197	1	strelka-varscan-mutect	UBR5,missense_variant,p.Gly375Val,ENST00000520539,NM_015902.5;UBR5,missense_variant,p.Gly375Val,ENST00000220959,NM_001282873.1;UBR5,missense_variant,p.Gly369Val,ENST00000521922,;	A	ENST00000520539	Transcript	missense_variant	1731/10297	1124/8400	375/2799	G/V	gGg/gTg		1		-1	UBR5	HGNC	HGNC:16806	protein_coding	YES	CCDS34933.1	ENSP00000429084	O95071		UPI0000129BCB	NM_015902.5	tolerated(0.09)		10/59		Gene3D:2.130.10.30,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF337,Superfamily_domains:SSF50985																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	102329374	102329374	C	A	1	0	0	0	0	1	0	0	0	17429	623	22	2		2	UBR5	8	102329374	Missense_Mutation	SNP	C	C3N-00580_TP	4201743	102329374	42809262	519	19979											
RIMS2	0	.	GRCh38	chr8	103885535	103885535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatatattgtagatgatgaGgatgtggaaagcagagatga	16	10	14	1	0	0	5	0	3	0	2	0	9	0	7	0	2	1	2	0	2	5	4			C3N-00580_TP	C3N-00580_NB	G	G																c.936G>T	p.Glu312Asp	p.E312D	ENST00000504942	4/24	297	123	174	193	193	0	strelka-varscan-mutect	RIMS2,missense_variant,p.Glu120Asp,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Glu90Asp,ENST00000436393,;RIMS2,missense_variant,p.Glu312Asp,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Glu254Asp,ENST00000626043,;RIMS2,missense_variant,p.Glu120Asp,ENST00000408894,;RIMS2,missense_variant,p.Glu120Asp,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Glu316Asp,ENST00000632716,;RIMS2,missense_variant,p.Glu120Asp,ENST00000515551,;	T	ENST00000504942	Transcript	missense_variant	1075/4228	936/4050	312/1349	E/D	gaG/gaT	COSM4428876,COSM4428877,COSM4428878,COSM4428879,COSM4428880	1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	tolerated_low_confidence(0.13)		4/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15											1,1,1,1,1						MODERATE	1	SNV	2		1,1,1,1,1	1										PASS		.	.												T	3	4	62	103885535	103885535	G	T	1	0	0	0	0	1	0	0	0	13543	991	35	2		2	RIMS2	8	103885535	Missense_Mutation	SNP	G	C3N-00580_TP	1556161	103885535	41253101	520	19980											
RIMS2	0	.	GRCh38	chr8	103885777	103885777	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggatggatcgaccatcaaGgcaaagatctatatcagaac	17	7	9	8	1	3	2	2	0	1	2	4	5	3	4	1	3	1	1	1	3	6	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1178G>C	p.Arg393Thr	p.R393T	ENST00000504942	4/24	383	308	75	219	219	0	strelka-varscan-mutect	RIMS2,missense_variant,p.Arg201Thr,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Arg171Thr,ENST00000436393,;RIMS2,missense_variant,p.Arg393Thr,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Arg335Thr,ENST00000626043,;RIMS2,missense_variant,p.Arg201Thr,ENST00000408894,;RIMS2,missense_variant,p.Arg201Thr,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Arg397Thr,ENST00000632716,;RIMS2,missense_variant,p.Arg201Thr,ENST00000515551,;	C	ENST00000504942	Transcript	missense_variant	1317/4228	1178/4050	393/1349	R/T	aGg/aCg		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0.05)		4/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	62	103885777	103885777	G	C	1	0	0	0	0	1	0	0	0	13543	1000	35	4		4	RIMS2	8	103885777	Missense_Mutation	SNP	G	C3N-00580_TP	242	103885777	41252859	521	19981											
DPYS	0	.	GRCh38	chr8	104466755	104466755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggcaggacgagcttgcCggcggcgtcgaggacccgca	6	4	17	14	7	0	0	0	0	0	0	2	4	1	2	3	5	2	3	3	5	0	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.166G>T	p.Gly56Cys	p.G56C	ENST00000351513	1/10	574	473	101	402	402	0	strelka-varscan-mutect	DPYS,missense_variant,p.Gly56Cys,ENST00000351513,NM_001385.2;DPYS,missense_variant,p.Gly56Cys,ENST00000521573,;	A	ENST00000351513	Transcript	missense_variant	299/2127	166/1560	56/519	G/C	Ggc/Tgc		1		-1	DPYS	HGNC	HGNC:3013	protein_coding	YES	CCDS6302.1	ENSP00000276651	Q14117		UPI000012986F	NM_001385.2	deleterious(0)		1/10		hmmpanther:PTHR11647:SF50,hmmpanther:PTHR11647,Gene3D:2.30.40.10,TIGRFAM_domain:TIGR02033,Superfamily_domains:SSF51338																	MODERATE	1	SNV	1			1										PASS		rs1373451792	.												A	3	1	62	104466755	104466755	C	A	1	0	0	0	0	1	0	0	0	4561	652	23	1		1	DPYS	8	104466755	Missense_Mutation	SNP	C	C3N-00580_TP	580978	104466755	40671881	522	19982											
CSMD3	0	.	GRCh38	chr8	112650287	112650287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatggagaaatcatgacCatagcgacggccatgtacag	14	6	11	10	2	1	2	1	1	0	1	1	4	1	2	3	2	2	1	3	2	4	2	rs372047417		C3N-00580_TP	C3N-00580_NB	C	C																c.3067G>C	p.Gly1023Arg	p.G1023R	ENST00000297405	19/71	559	248	311	398	398	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Gly1023Arg,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Gly983Arg,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Gly919Arg,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Gly363Arg,ENST00000339701,;	G	ENST00000297405	Transcript	missense_variant	3312/13212	3067/11124	1023/3707	G/R	Ggt/Cgt	rs372047417,COSM3644340,COSM3644341	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		19/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs372047417	.												G	3	3	62	112650287	112650287	C	G	1	0	0	0	0	1	0	0	0	3747	594	21	4		4	CSMD3	8	112650287	Missense_Mutation	SNP	C	C3N-00580_TP	8183532	112650287	32488349	523	19983											
CSMD3	0	.	GRCh38	chr8	112947870	112947870	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgttttaatacctccCtcatttactgcaacagcagg	11	12	7	11	0	1	0	1	0	0	0	2	1	2	0	2	1	6	4	2	1	5	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1428G>C	p.Glu476Asp	p.E476D	ENST00000297405	9/71	355	146	209	281	281	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Glu476Asp,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Glu436Asp,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Glu372Asp,ENST00000455883,NM_052900.2;	G	ENST00000297405	Transcript	missense_variant	1673/13212	1428/11124	476/3707	E/D	gaG/gaC		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0.03)		9/71																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	112947870	112947870	C	G	1	0	0	0	0	1	0	0	0	3747	680	24	4		4	CSMD3	8	112947870	Missense_Mutation	SNP	C	C3N-00580_TP	297583	112947870	32190766	524	19984											
RAD21	0	.	GRCh38	chr8	116854328	116854328	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctctttccacatcatcaAtttcttggtgggcggtgcca	6	15	9	11	1	4	0	2	0	2	0	6	0	5	0	2	3	1	0	2	3	1	3	rs565975762		C3N-00580_TP	C3N-00580_NB	A	A																c.1078T>G	p.Leu360Val	p.L360V	ENST00000297338	9/14	486	448	38	363	361	2	strelka-varscan-mutect	RAD21,missense_variant,p.Leu360Val,ENST00000297338,NM_006265.2;RAD21,upstream_gene_variant,,ENST00000523986,;RAD21,upstream_gene_variant,,ENST00000517749,;RAD21,upstream_gene_variant,,ENST00000518055,;RAD21,downstream_gene_variant,,ENST00000517485,;RAD21,downstream_gene_variant,,ENST00000520992,;UTP23,downstream_gene_variant,,ENST00000517820,;AC087350.1,downstream_gene_variant,,ENST00000626876,;RAD21,downstream_gene_variant,,ENST00000523547,;	C	ENST00000297338	Transcript	missense_variant	1366/3749	1078/1896	360/631	L/V	Ttg/Gtg	rs565975762	1		-1	RAD21	HGNC	HGNC:9811	protein_coding	YES	CCDS6321.1	ENSP00000297338	O60216	A0A024R9J0	UPI0000133018	NM_006265.2	deleterious(0)		9/14		hmmpanther:PTHR12585,hmmpanther:PTHR12585:SF20																	MODERATE	1	SNV	1			1										PASS		rs565975762	.												C	3	2	62	116854328	116854328	A	C	1	0	0	0	0	1	0	0	0	13141	98	4	5		5	RAD21	8	116854328	Missense_Mutation	SNP	A	C3N-00580_TP	3906458	116854328	28284308	525	19985											
EXT1	0	.	GRCh38	chr8	118110792	118110792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctggagttggcatctcgCttctgccggggggaaatgtg	6	11	16	8	2	2	0	0	0	2	0	3	2	2	2	1	5	2	4	1	5	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.255G>C	p.Lys85Asn	p.K85N	ENST00000378204	1/11	249	196	53	153	153	0	strelka-varscan-mutect	EXT1,missense_variant,p.Lys85Asn,ENST00000378204,NM_000127.2;EXT1,upstream_gene_variant,,ENST00000436216,;EXT1,intron_variant,,ENST00000437196,;	G	ENST00000378204	Transcript	missense_variant	1062/8270	255/2241	85/746	K/N	aaG/aaC		1		-1	EXT1	HGNC	HGNC:3512	protein_coding	YES	CCDS6324.1	ENSP00000367446	Q16394		UPI000012A3A1	NM_000127.2	tolerated(0.11)		1/11		hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF97																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	118110792	118110792	C	G	1	0	0	0	0	1	0	0	0	5191	796	28	4		4	EXT1	8	118110792	Missense_Mutation	SNP	C	C3N-00580_TP	1256464	118110792	27027844	526	19986											
SAMD12	0	.	GRCh38	chr8	118580867	118580867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgggcagggtgatcaatacCccgtggattcaaaccacagt	12	8	11	10	1	2	1	2	1	0	0	2	2	2	2	3	3	2	1	3	3	3	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.40G>T	p.Gly14Cys	p.G14C	ENST00000314727	2/4	186	149	37	123	123	0	strelka-varscan-mutect	SAMD12,missense_variant,p.Gly14Cys,ENST00000409003,NM_001101676.1;SAMD12,missense_variant,p.Gly14Cys,ENST00000314727,NM_207506.2;SAMD12,missense_variant,p.Gly11Cys,ENST00000453675,;SAMD12,missense_variant,p.Gly6Cys,ENST00000524796,;SAMD12,missense_variant,p.Gly14Cys,ENST00000526328,;SAMD12,missense_variant,p.Gly29Cys,ENST00000526765,;SAMD12,missense_variant,p.Gly14Cys,ENST00000445741,;	A	ENST00000314727	Transcript	missense_variant	177/2172	40/606	14/201	G/C	Ggt/Tgt		1		-1	SAMD12	HGNC	HGNC:31750	protein_coding	YES	CCDS6325.1	ENSP00000314173	Q8N8I0		UPI000013F8F1	NM_207506.2	deleterious_low_confidence(0)		2/4		hmmpanther:PTHR20843:SF2,hmmpanther:PTHR20843																	MODERATE	1	SNV	1			1										PASS		rs1304967359	.												A	3	1	62	118580867	118580867	C	A	1	0	0	0	0	1	0	0	0	14076	623	22	2		2	SAMD12	8	118580867	Missense_Mutation	SNP	C	C3N-00580_TP	470075	118580867	26557769	527	19987											
TBC1D31	0	.	GRCh38	chr8	123097335	123097335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatcatcttcatttgtggtGcttggaagctaggcagctct	9	14	10	8	0	4	0	2	0	2	0	4	1	4	1	0	3	3	4	0	3	3	4	rs767911030		C3N-00580_TP	C3N-00580_NB	G	G																c.725G>T	p.Cys242Phe	p.C242F	ENST00000287380	6/22	421	345	76	312	312	0	strelka-varscan-mutect	TBC1D31,missense_variant,p.Cys242Phe,ENST00000287380,NM_145647.3;TBC1D31,missense_variant,p.Cys137Phe,ENST00000521676,;TBC1D31,missense_variant,p.Cys137Phe,ENST00000522420,;TBC1D31,missense_variant,p.Cys242Phe,ENST00000327098,NM_001145088.1;TBC1D31,missense_variant,p.Cys46Phe,ENST00000521914,;TBC1D31,missense_variant,p.Cys232Phe,ENST00000522276,;TBC1D31,intron_variant,,ENST00000519418,;TBC1D31,upstream_gene_variant,,ENST00000518805,;TBC1D31,downstream_gene_variant,,ENST00000518684,;TBC1D31,3_prime_UTR_variant,,ENST00000524307,;TBC1D31,non_coding_transcript_exon_variant,,ENST00000521980,;TBC1D31,non_coding_transcript_exon_variant,,ENST00000518099,;	T	ENST00000287380	Transcript	missense_variant	815/3502	725/3201	242/1066	C/F	tGc/tTc	rs767911030	1		1	TBC1D31	HGNC	HGNC:30888	protein_coding	YES	CCDS6338.1	ENSP00000287380	Q96DN5		UPI000013DEAB	NM_145647.3	deleterious(0.01)		6/22		PROSITE_profiles:PS50294,hmmpanther:PTHR19853:SF1,hmmpanther:PTHR19853,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		rs767911030	.												T	3	4	62	123097335	123097335	G	T	1	0	0	0	0	1	0	0	0	16021	1319	46	2		2	TBC1D31	8	123097335	Missense_Mutation	SNP	G	C3N-00580_TP	4516468	123097335	22041301	528	19988											
WISP1	0	.	GRCh38	chr8	133220707	133220707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacaccactgtgcctccGagtgcgccccccgcgtctct	4	8	9	20	4	1	0	0	0	1	0	3	1	2	0	6	0	3	1	6	0	0	0	rs147638897		C3N-00580_TP	C3N-00580_NB	G	G																c.476G>T	p.Arg159Leu	p.R159L	ENST00000250160	3/5	681	525	156	415	414	1	strelka-varscan-mutect	WISP1,missense_variant,p.Arg159Leu,ENST00000250160,NM_003882.3;WISP1,intron_variant,,ENST00000220856,NM_080838.2;WISP1,intron_variant,,ENST00000517423,NM_001204869.1;WISP1,intron_variant,,ENST00000519433,NM_001204870.1;WISP1,intron_variant,,ENST00000377862,;	T	ENST00000250160	Transcript	missense_variant	582/3844	476/1104	159/367	R/L	cGa/cTa	rs147638897	1		1	WISP1	HGNC	HGNC:12769	protein_coding	YES	CCDS6371.1	ENSP00000250160	O95388		UPI00000359FE	NM_003882.3	tolerated(0.26)		3/5		PROSITE_profiles:PS50184,hmmpanther:PTHR11348:SF4,hmmpanther:PTHR11348,PROSITE_patterns:PS01208,PIRSF_domain:PIRSF036495,Pfam_domain:PF00093,SMART_domains:SM00214,Superfamily_domains:SSF57603																	MODERATE	1	SNV	1			1										PASS		rs147638897	.												T	3	4	62	133220707	133220707	G	T	1	0	0	0	0	1	0	0	0	17928	1058	37	1		1	WISP1	8	133220707	Missense_Mutation	SNP	G	C3N-00580_TP	10123372	133220707	11917929	529	19989											
FAM135B	0	.	GRCh38	chr8	138152551	138152551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtagaacttagtggatCacagggctcagagggggtga	11	7	17	6	0	2	3	2	1	0	2	2	4	2	4	0	5	1	2	0	5	3	2			C3N-00580_TP	C3N-00580_NB	C	C																c.1924G>T	p.Asp642Tyr	p.D642Y	ENST00000395297	13/20	263	129	134	185	185	0	strelka-varscan-mutect	FAM135B,missense_variant,p.Asp642Tyr,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Asp642Tyr,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000467365,;FAM135B,upstream_gene_variant,,ENST00000395295,;	A	ENST00000395297	Transcript	missense_variant	2095/6962	1924/4221	642/1406	D/Y	Gat/Tat	COSM4532835,COSM4532836	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	tolerated(0.09)		13/20													1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	62	138152551	138152551	C	A	1	0	0	0	0	1	0	0	0	5299	826	29	2		2	FAM135B	8	138152551	Missense_Mutation	SNP	C	C3N-00580_TP	4931844	138152551	6986085	530	19990											
KCNK9	0	.	GRCh38	chr8	139618544	139618544	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacctgggccggctgggcCgcggctcctcagggatgtga	4	8	17	12	3	1	1	1	1	0	0	2	2	2	2	4	5	1	3	4	5	1	1	rs750174835		C3N-00580_TP	C3N-00580_NB	C	C																c.839G>T	p.Arg280Leu	p.R280L	ENST00000520439	2/2	378	162	216	225	225	0	strelka-varscan-mutect	KCNK9,missense_variant,p.Arg280Leu,ENST00000520439,NM_001282534.1;KCNK9,missense_variant,p.Arg280Leu,ENST00000303015,;KCNK9,upstream_gene_variant,,ENST00000523477,;KCNK9,upstream_gene_variant,,ENST00000519923,;KCNK9,missense_variant,p.Arg280Leu,ENST00000522317,;	A	ENST00000520439	Transcript	missense_variant	903/1441	839/1125	280/374	R/L	cGg/cTg	rs750174835	1		-1	KCNK9	HGNC	HGNC:6283	protein_coding	YES	CCDS6377.1	ENSP00000430676	Q9NPC2	A0A024R9H3	UPI000000D8AC	NM_001282534.1	tolerated(0.53)		2/2		hmmpanther:PTHR11003:SF75,hmmpanther:PTHR11003,PIRSF_domain:PIRSF038061																	MODERATE	1	SNV	1			1										PASS		rs750174835	.												A	3	1	62	139618544	139618544	C	A	1	0	0	0	0	1	0	0	0	7989	652	23	1		1	KCNK9	8	139618544	Missense_Mutation	SNP	C	C3N-00580_TP	1465993	139618544	5520092	531	19991											
TSNARE1	0	.	GRCh38	chr8	142344466	142344466	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgccttcaggggcaaccCcaggccctggaaaggcacca	9	4	13	15	0	1	0	1	0	0	0	1	1	1	1	5	6	2	3	5	6	2	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.245G>C	p.Gly82Ala	p.G82A	ENST00000524325	4/14	111	44	67	79	79	0	strelka-varscan-mutect	TSNARE1,missense_variant,p.Gly82Ala,ENST00000524325,NM_145003.4;TSNARE1,missense_variant,p.Gly82Ala,ENST00000307180,;TSNARE1,missense_variant,p.Gly82Ala,ENST00000520166,;TSNARE1,missense_variant,p.Gly82Ala,ENST00000520462,;TSNARE1,missense_variant,p.Gly98Ala,ENST00000518720,;TSNARE1,intron_variant,,ENST00000519651,NM_001291931.1;	G	ENST00000524325	Transcript	missense_variant	421/1963	245/1542	82/513	G/A	gGg/gCg		1		-1	TSNARE1	HGNC	HGNC:26437	protein_coding	YES	CCDS6384.1	ENSP00000428763	Q96NA8		UPI00001AEE5E	NM_145003.4	deleterious_low_confidence(0)		4/14																			MODERATE	1	SNV	2			1										PASS		rs1206522947	.												G	3	3	62	142344466	142344466	C	G	1	0	0	0	0	1	0	0	0	17135	623	22	4		4	TSNARE1	8	142344466	Missense_Mutation	SNP	C	C3N-00580_TP	2725922	142344466	2794170	532	19992											
ARC	0	.	GRCh38	chr8	142613702	142613702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggctggtactgctgggcCtcggcgggctcctgcccggg	2	7	17	15	4	0	0	0	0	0	0	2	0	1	0	3	6	3	4	3	6	1	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.570G>T	p.Glu190Asp	p.E190D	ENST00000356613	1/3	84	70	14	65	65	0	strelka-varscan-mutect	ARC,missense_variant,p.Glu190Asp,ENST00000356613,NM_015193.4;ARC,upstream_gene_variant,,ENST00000581404,;	A	ENST00000356613	Transcript	missense_variant	771/2948	570/1191	190/396	E/D	gaG/gaT		1		-1	ARC	HGNC	HGNC:648	protein_coding	YES	CCDS34950.1	ENSP00000349022	Q7LC44		UPI0000163B0F	NM_015193.4	tolerated_low_confidence(0.34)		1/3		hmmpanther:PTHR15962																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	142613702	142613702	C	A	1	0	0	0	0	1	0	0	0	963	680	24	2		2	ARC	8	142613702	Missense_Mutation	SNP	C	C3N-00580_TP	269236	142613702	2524934	533	19993											
MAFA	0	.	GRCh38	chr8	143429971	143429971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgcgcgccgtggtggcCgctgccgatgagcgcctcca	3	7	17	14	6	0	1	0	1	0	0	1	2	1	1	5	3	3	1	5	3	0	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.436G>T	p.Gly146Cys	p.G146C	ENST00000333480	1/1	89	75	14	94	94	0	strelka-varscan-mutect	MAFA,missense_variant,p.Gly146Cys,ENST00000333480,NM_201589.3;MAFA,upstream_gene_variant,,ENST00000528185,;	A	ENST00000333480	Transcript	missense_variant	436/2347	436/1062	146/353	G/C	Ggc/Tgc		1		-1	MAFA	HGNC	HGNC:23145	protein_coding	YES	CCDS34955.1	ENSP00000328364	Q8NHW3		UPI00001B0366	NM_201589.3	deleterious(0.01)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR10129:SF30,hmmpanther:PTHR10129																	MODERATE	1	SNV				1										PASS		rs1344529699	.												A	3	1	62	143429971	143429971	C	A	1	0	0	0	0	1	0	0	0	9073	652	23	1		1	MAFA	8	143429971	Missense_Mutation	SNP	C	C3N-00580_TP	816269	143429971	1708665	534	19994											
MROH1	0	.	GRCh38	chr8	144261239	144261239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcaccaccccctgccccaCccccacgccgcccggcagcc	7	1	7	26	3	0	0	0	0	0	0	0	0	0	0	10	1	3	2	10	1	1	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1683C>A	p.His561Gln	p.H561Q	ENST00000544576	25/26	622	499	123	543	541	2	strelka-varscan-mutect	MROH1,missense_variant,p.His561Gln,ENST00000544576,;MROH1,intron_variant,,ENST00000528919,NM_032450.2;MROH1,intron_variant,,ENST00000326134,;MROH1,intron_variant,,ENST00000534366,NM_001288814.1;BOP1,downstream_gene_variant,,ENST00000569669,NM_015201.4;BOP1,downstream_gene_variant,,ENST00000569403,;BOP1,downstream_gene_variant,,ENST00000616126,;BOP1,downstream_gene_variant,,ENST00000563210,;BOP1,downstream_gene_variant,,ENST00000568812,;BOP1,downstream_gene_variant,,ENST00000569160,;	A	ENST00000544576	Transcript	missense_variant	3292/3673	1683/1848	561/615	H/Q	caC/caA		1		1	MROH1	HGNC	HGNC:26958	protein_coding			ENSP00000437866	Q8NDA8		UPI0000072B53		deleterious_low_confidence(0.04)		25/26																			MODERATE		SNV	1			1										PASS		.	.												A	3	1	62	144261239	144261239	C	A	1	0	0	0	0	1	0	0	0	9743	506	18	2		2	MROH1	8	144261239	Missense_Mutation	SNP	C	C3N-00580_TP	831268	144261239	877397	535	19995											
TONSL	0	.	GRCh38	chr8	144442120	144442120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttcttcagggctcgcttgGcagccaaaaagtctcccagg	8	9	10	14	1	3	0	1	0	2	0	5	0	3	0	3	3	1	3	3	3	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.782C>T	p.Ala261Val	p.A261V	ENST00000409379	7/26	269	209	60	202	202	0	strelka-varscan-mutect	TONSL,missense_variant,p.Ala261Val,ENST00000409379,NM_013432.4;TONSL,synonymous_variant,p.=,ENST00000613741,;TONSL-AS1,downstream_gene_variant,,ENST00000442850,;TONSL,non_coding_transcript_exon_variant,,ENST00000497613,;	A	ENST00000409379	Transcript	missense_variant	812/4502	782/4137	261/1378	A/V	gCc/gTc		1		-1	TONSL	HGNC	HGNC:7801	protein_coding	YES	CCDS34968.2	ENSP00000386239	Q96HA7		UPI0000424A3B	NM_013432.4	deleterious(0)		7/26		Low_complexity_(Seg):seg,PROSITE_profiles:PS50293,hmmpanther:PTHR24139,hmmpanther:PTHR24139:SF31,Gene3D:1.25.40.10,Pfam_domain:PF13181,SMART_domains:SM00028,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	144442120	144442120	G	A	1	0	0	0	0	1	0	0	0	16838	1204	42	3		3	TONSL	8	144442120	Missense_Mutation	SNP	G	C3N-00580_TP	180881	144442120	696516	536	19996											
KIFC2	0	.	GRCh38	chr8	144467614	144467614	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtggcagcggctggagcAgctcatcctgggacaggtga	7	6	18	10	2	1	1	1	1	0	0	2	3	2	3	1	6	3	4	1	6	0	0	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.599A>T	p.Gln200Leu	p.Q200L	ENST00000301332	5/17	76	42	34	50	50	0	strelka-varscan-mutect	KIFC2,missense_variant,p.Gln200Leu,ENST00000301332,NM_145754.3;CYHR1,upstream_gene_variant,,ENST00000438911,NM_138496.1;CYHR1,upstream_gene_variant,,ENST00000530374,;CYHR1,upstream_gene_variant,,ENST00000403000,NM_032687.3;CYHR1,upstream_gene_variant,,ENST00000306145,;CYHR1,upstream_gene_variant,,ENST00000424149,NM_001129888.1;CYHR1,upstream_gene_variant,,ENST00000526887,;CYHR1,upstream_gene_variant,,ENST00000533764,;CYHR1,upstream_gene_variant,,ENST00000530637,;CTD-2517M22.16,downstream_gene_variant,,ENST00000525461,;KIFC2,upstream_gene_variant,,ENST00000531423,;KIFC2,non_coding_transcript_exon_variant,,ENST00000533114,;KIFC2,non_coding_transcript_exon_variant,,ENST00000529644,;KIFC2,upstream_gene_variant,,ENST00000531425,;CYHR1,upstream_gene_variant,,ENST00000524623,;KIFC2,upstream_gene_variant,,ENST00000529864,;	T	ENST00000301332	Transcript	missense_variant	976/3646	599/2517	200/838	Q/L	cAg/cTg		1		1	KIFC2	HGNC	HGNC:29530	protein_coding	YES	CCDS6427.1	ENSP00000301332	Q96AC6		UPI000006D3B2	NM_145754.3	deleterious(0.03)		5/17		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	144467614	144467614	A	T	1	0	0	0	0	1	0	0	0	8178	188	7	4		4	KIFC2	8	144467614	Missense_Mutation	SNP	A	C3N-00580_TP	25494	144467614	671022	537	19997											
RFX3	0	.	GRCh38	chr9	3293093	3293093	+	Missense_Mutation	SNP	T	T	A																															taacctagtgcccaatctccTggttcgtagccccataaaaa																								novel		C3N-00580_TP	C3N-00580_NB	T	T																c.715A>T	p.Arg239Trp	p.R239W	ENST00000382004	7/18	95	52	43	76	76	0	strelka-varscan-mutect	RFX3,missense_variant,p.Arg239Trp,ENST00000382004,NM_134428.2;RFX3,missense_variant,p.Arg239Trp,ENST00000617270,NM_001282116.1;RFX3,missense_variant,p.Arg239Trp,ENST00000358730,NM_002919.3;RFX3,missense_variant,p.Arg239Trp,ENST00000302303,NM_001282117.1;RFX3,missense_variant,p.Arg214Trp,ENST00000457373,;	A	ENST00000382004	Transcript	missense_variant	1027/9307	715/2250	239/749	R/W	Agg/Tgg		1		-1	RFX3	HGNC	HGNC:9984	protein_coding	YES	CCDS6449.1	ENSP00000371434	P48380		UPI0000070BFB	NM_134428.2	deleterious(0)		7/18		Gene3D:1.10.10.10,Pfam_domain:PF02257,PROSITE_profiles:PS51526,hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF20,Low_complexity_(Seg):seg,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	3293093	3293093	T	A	1	0	0	0	0	1	0	0	0	13438	1579	55	4		4	RFX3	9	3293093	Missense_Mutation	SNP	T	C3N-00580_TP		3293093	135101624	538	19998	422	2									
RFX3	0	.	GRCh38	chr9	3293094	3293094	+	Silent	SNP	G	G	T																															aacctagtgcccaatctcctGgttcgtagccccataaaaat																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.714C>A	p.=	p.T238T	ENST00000382004	7/18	95	52	43	77	77	0	strelka-varscan-mutect	RFX3,synonymous_variant,p.=,ENST00000382004,NM_134428.2;RFX3,synonymous_variant,p.=,ENST00000617270,NM_001282116.1;RFX3,synonymous_variant,p.=,ENST00000358730,NM_002919.3;RFX3,synonymous_variant,p.=,ENST00000302303,NM_001282117.1;RFX3,synonymous_variant,p.=,ENST00000457373,;	T	ENST00000382004	Transcript	synonymous_variant	1026/9307	714/2250	238/749	T	acC/acA		1		-1	RFX3	HGNC	HGNC:9984	protein_coding	YES	CCDS6449.1	ENSP00000371434	P48380		UPI0000070BFB	NM_134428.2			7/18		Gene3D:1.10.10.10,Pfam_domain:PF02257,PROSITE_profiles:PS51526,hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF20,Low_complexity_(Seg):seg,Superfamily_domains:SSF46785																	LOW	1	SNV	1			1										PASS		rs932454773	.												T	2	4	62	3293094	3293094	G	T	1	0	0	0	0	0	0	0	1	13438	1335	47	2		2	RFX3	9	3293094	Silent	SNP	G	C3N-00580_TP	1	3293094	135101623	539	19999	422	2									
IFNA21	0	.	GRCh38	chr9	21166375	21166375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggatcatctcatggaGgacagagatggcttgagcct	9	10	13	9	0	2	2	2	1	1	1	3	6	2	5	1	4	2	2	1	4	0	1	rs746640260		C3N-00580_TP	C3N-00580_NB	G	G																c.238C>A	p.Leu80Ile	p.L80I	ENST00000380225	1/1	390	299	91	383	383	0	strelka-varscan-mutect	IFNA21,missense_variant,p.Leu80Ile,ENST00000380225,NM_002175.2;	T	ENST00000380225	Transcript	missense_variant	286/1024	238/570	80/189	L/I	Ctc/Atc	rs746640260	1		-1	IFNA21	HGNC	HGNC:5424	protein_coding	YES	CCDS6497.1	ENSP00000369574	P01568		UPI000002C35A	NM_002175.2	deleterious(0.03)		1/1		Gene3D:1.20.1250.10,Pfam_domain:PF00143,Prints_domain:PR00266,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF23,SMART_domains:SM00076,Superfamily_domains:SSF47266																	MODERATE	1	SNV				1										PASS		rs746640260	.												T	3	4	62	21166375	21166375	G	T	1	0	0	0	0	1	0	0	0	7438	1000	35	2		2	IFNA21	9	21166375	Missense_Mutation	SNP	G	C3N-00580_TP	17873281	21166375	117228342	540	20000											
DNAJA1	0	.	GRCh38	chr9	33038896	33038896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtggtgttcagtgtcagaCctcttaatgggccagtgaat	9	12	13	7	0	3	2	2	1	1	1	3	2	3	2	2	3	0	1	2	3	2	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1187C>A	p.Thr396Asn	p.T396N	ENST00000330899	9/9	307	274	33	295	294	1	strelka-varscan-mutect	DNAJA1,missense_variant,p.Thr396Asn,ENST00000330899,NM_001539.2;SMU1,downstream_gene_variant,,ENST00000397149,NM_018225.2;DNAJA1,downstream_gene_variant,,ENST00000495015,;DNAJA1,downstream_gene_variant,,ENST00000465677,;	A	ENST00000330899	Transcript	missense_variant	1370/2381	1187/1194	396/397	T/N	aCc/aAc		1		1	DNAJA1	HGNC	HGNC:5229	protein_coding	YES	CCDS6533.1	ENSP00000369127	P31689		UPI0000129431	NM_001539.2	deleterious(0.02)		9/9		hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF227																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	33038896	33038896	C	A	1	0	0	0	0	1	0	0	0	4426	507	18	2		2	DNAJA1	9	33038896	Missense_Mutation	SNP	C	C3N-00580_TP	11872521	33038896	105355821	541	20001											
ALDH1B1	0	.	GRCh38	chr9	38396617	38396617	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagctgggtggtaagaGccccagcatcgtgctggccg	6	7	16	12	2	0	1	0	0	0	1	1	2	0	2	4	4	4	4	4	4	1	1	rs758839785		C3N-00580_TP	C3N-00580_NB	G	G																c.869G>C	p.Ser290Thr	p.S290T	ENST00000377698	2/2	265	89	176	241	241	0	strelka-varscan-mutect	ALDH1B1,missense_variant,p.Ser290Thr,ENST00000377698,NM_000692.4;ALDH1B1,downstream_gene_variant,,ENST00000635162,;	C	ENST00000377698	Transcript	missense_variant	1022/3066	869/1554	290/517	S/T	aGc/aCc	rs758839785	1		1	ALDH1B1	HGNC	HGNC:407	protein_coding	YES	CCDS6615.1	ENSP00000366927	P30837		UPI0000073000	NM_000692.4	deleterious(0)		2/2		hmmpanther:PTHR11699:SF211,hmmpanther:PTHR11699,PROSITE_patterns:PS00687,Gene3D:3.40.605.10,Pfam_domain:PF00171,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		rs758839785	.												C	3	2	62	38396617	38396617	G	C	1	0	0	0	0	1	0	0	0	593	971	34	4		4	ALDH1B1	9	38396617	Missense_Mutation	SNP	G	C3N-00580_TP	5357721	38396617	99998100	542	20002											
SPATA31A1	0	.	GRCh38	chr9	39359005	39359005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttggaagaattatagcCagcttttctggggcctcccc	7	14	10	10	0	1	1	0	0	1	1	2	2	2	2	4	3	2	2	4	3	4	6	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1282C>A	p.Gln428Lys	p.Q428K	ENST00000377647	4/4	283	180	103	274	274	0	strelka-varscan-mutect	SPATA31A1,missense_variant,p.Gln428Lys,ENST00000377647,NM_001085452.2;RP11-347J14.4,downstream_gene_variant,,ENST00000615174,;SPATA31A1,downstream_gene_variant,,ENST00000473440,;	A	ENST00000377647	Transcript	missense_variant	1302/4256	1282/4086	428/1361	Q/K	Cag/Aag		1		1	SPATA31A1	HGNC	HGNC:23394	protein_coding	YES	CCDS43808.2	ENSP00000366875		A0A0R4J2F1	UPI0001AE6DFD	NM_001085452.2	deleterious(0)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18,Pfam_domain:PF14650																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	39359005	39359005	C	A	1	0	0	0	0	1	0	0	0	15343	595	21	2		2	SPATA31A1	9	39359005	Missense_Mutation	SNP	C	C3N-00580_TP	962388	39359005	99035712	543	20003											
SPATA31A3	0	.	GRCh38	chr9	66987188	66987188	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcttgtgaatagggggaaAcattggcctttggctcttgc	8	13	12	8	0	2	1	0	1	2	0	2	2	2	2	1	4	2	1	1	4	3	5	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.3310T>G	p.Phe1104Val	p.F1104V	ENST00000428649	4/4	1155	1056	99	1089	1089	0	varscan-mutect	SPATA31A3,missense_variant,p.Phe1104Val,ENST00000428649,NM_001083124.1;RP11-395E19.2,non_coding_transcript_exon_variant,,ENST00000616253,;	C	ENST00000428649	Transcript	missense_variant	3372/4256	3310/4044	1104/1347	F/V	Ttt/Gtt		1		-1	SPATA31A3	HGNC	HGNC:32003	protein_coding	YES	CCDS78400.1	ENSP00000485118	Q5VYP0		UPI00004588FC	NM_001083124.1	tolerated(0.51)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	66987188	66987188	A	C	1	0	0	0	0	1	0	0	0	15344	43	2	5		5	SPATA31A3	9	66987188	Missense_Mutation	SNP	A	C3N-00580_TP	27628183	66987188	71407529	544	20004											
SPATA31A3	0	.	GRCh38	chr9	66988625	66988625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtgattcgtcctgaagctGcatcagatccagagactctt	9	12	10	10	1	2	4	1	2	1	2	5	5	4	4	2	1	2	2	2	1	1	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1873C>A	p.Gln625Lys	p.Q625K	ENST00000428649	4/4	1143	916	227	1033	1031	2	strelka-varscan-mutect	SPATA31A3,missense_variant,p.Gln625Lys,ENST00000428649,NM_001083124.1;RP11-395E19.2,downstream_gene_variant,,ENST00000616253,;	T	ENST00000428649	Transcript	missense_variant	1935/4256	1873/4044	625/1347	Q/K	Cag/Aag		1		-1	SPATA31A3	HGNC	HGNC:32003	protein_coding	YES	CCDS78400.1	ENSP00000485118	Q5VYP0		UPI00004588FC	NM_001083124.1	tolerated(0.09)		4/4		Pfam_domain:PF14650,hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	66988625	66988625	G	T	1	0	0	0	0	1	0	0	0	15344	1328	46	2		2	SPATA31A3	9	66988625	Missense_Mutation	SNP	G	C3N-00580_TP	1437	66988625	71406092	545	20005											
SPATA31A3	0	.	GRCh38	chr9	66989814	66989814	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcagtgtggagtcccgcagGggaggagcagtgaagccttt	9	8	16	8	1	1	1	1	1	0	0	2	4	2	4	2	4	2	2	2	4	1	1	rs780781564		C3N-00580_TP	C3N-00580_NB	G	G																c.684C>A	p.=	p.P228P	ENST00000428649	4/4	281	107	174	285	285	0	strelka-varscan-mutect	SPATA31A3,synonymous_variant,p.=,ENST00000428649,NM_001083124.1;RP11-395E19.2,downstream_gene_variant,,ENST00000616253,;	T	ENST00000428649	Transcript	synonymous_variant	746/4256	684/4044	228/1347	P	ccC/ccA	rs780781564	1		-1	SPATA31A3	HGNC	HGNC:32003	protein_coding	YES	CCDS78400.1	ENSP00000485118	Q5VYP0		UPI00004588FC	NM_001083124.1			4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	LOW	1	SNV	1			1										PASS		rs780781564	.												T	2	4	62	66989814	66989814	G	T	1	0	0	0	0	0	0	0	1	15344	1219	43	2		2	SPATA31A3	9	66989814	Silent	SNP	G	C3N-00580_TP	1189	66989814	71404903	546	20006											
TRPM3	0	.	GRCh38	chr9	70776472	70776472	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctttctctttttagattGgttatatattttgagctagt	7	24	6	4	0	2	2	0	1	2	1	3	2	2	2	0	1	1	2	0	1	5	12	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.780C>A	p.=	p.T260T	ENST00000396283	9/9	51	18	33	50	50	0	strelka-varscan-mutect	TRPM3,synonymous_variant,p.=,ENST00000396283,NM_001007470.1;TRPM3,intron_variant,,ENST00000377110,NM_001007471.2;TRPM3,intron_variant,,ENST00000360823,NM_206944.3,NM_206947.3;TRPM3,intron_variant,,ENST00000377105,NM_024971.5;TRPM3,intron_variant,,ENST00000357533,;TRPM3,intron_variant,,ENST00000396292,NM_206946.3;TRPM3,intron_variant,,ENST00000358082,;TRPM3,intron_variant,,ENST00000396285,NM_020952.4;TRPM3,intron_variant,,ENST00000408909,;TRPM3,intron_variant,,ENST00000396280,NM_206945.3;TRPM3,intron_variant,,ENST00000377111,;TRPM3,intron_variant,,ENST00000377101,;	T	ENST00000396283	Transcript	synonymous_variant	1100/3484	780/828	260/275	T	acC/acA		1		-1	TRPM3	HGNC	HGNC:17992	protein_coding			ENSP00000379579		Q4VXD4	UPI000006DB66	NM_001007470.1			9/9																			LOW		SNV	5			1										PASS		.	.												T	2	4	62	70776472	70776472	G	T	1	0	0	0	0	0	0	0	1	17093	1335	47	2		2	TRPM3	9	70776472	Silent	SNP	G	C3N-00580_TP	3786658	70776472	67618245	547	20007											
ALDH1A1	0	.	GRCh38	chr9	72930896	72930896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccgccagcagcagacgatCtctttcgattaaatcagcca	12	8	7	14	3	2	1	1	0	1	1	4	3	2	1	3	0	3	2	3	0	2	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.295G>A	p.Asp99Asn	p.D99N	ENST00000297785	3/13	195	65	130	195	195	0	strelka-varscan-mutect	ALDH1A1,missense_variant,p.Asp99Asn,ENST00000297785,NM_000689.4;ALDH1A1,missense_variant,p.Asp99Asn,ENST00000376939,;ALDH1A1,missense_variant,p.Asp99Asn,ENST00000419959,;ALDH1A1,missense_variant,p.Asp99Asn,ENST00000446946,;ALDH1A1,non_coding_transcript_exon_variant,,ENST00000482210,;ALDH1A1,non_coding_transcript_exon_variant,,ENST00000493113,;	T	ENST00000297785	Transcript	missense_variant	350/2107	295/1506	99/501	D/N	Gat/Aat		1		-1	ALDH1A1	HGNC	HGNC:402	protein_coding	YES	CCDS6644.1	ENSP00000297785	P00352	V9HW83	UPI0000000DC0	NM_000689.4	tolerated(0.08)		3/13		Gene3D:3.40.605.10,Pfam_domain:PF00171,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF140,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	72930896	72930896	C	T	1	0	0	0	0	1	0	0	0	590	913	32	3		3	ALDH1A1	9	72930896	Missense_Mutation	SNP	C	C3N-00580_TP	2154424	72930896	65463821	548	20008											
PRUNE2	0	.	GRCh38	chr9	76706152	76706152	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtacctcgggagtcctcaCttggggtagagccatcccat	8	9	12	12	1	1	1	1	0	0	1	4	2	3	2	4	4	2	2	4	4	2	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.6122G>T	p.Ser2041Ile	p.S2041I	ENST00000376718	8/19	311	143	168	279	279	0	strelka-varscan-mutect	PRUNE2,missense_variant,p.Ser2041Ile,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Ser1682Ile,ENST00000428286,;PRUNE2,missense_variant,p.Ser2041Ile,ENST00000443509,NM_001308047.1,NM_001308048.1;PRUNE2,missense_variant,p.Ser1363Ile,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	A	ENST00000376718	Transcript	missense_variant	6246/12584	6122/9267	2041/3088	S/I	aGt/aTt		1		-1	PRUNE2	HGNC	HGNC:25209	protein_coding	YES	CCDS47982.1	ENSP00000365908	Q8WUY3		UPI0001612CC0	NM_015225.2	deleterious(0.02)		8/19		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	76706152	76706152	C	A	1	0	0	0	0	1	0	0	0	12791	565	20	2		2	PRUNE2	9	76706152	Missense_Mutation	SNP	C	C3N-00580_TP	3775256	76706152	61688565	549	20009											
KIF27	0	.	GRCh38	chr9	83903101	83903101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcagctggagaactgtaaCatgctgtggtccttcttcca	8	13	9	11	0	2	1	1	0	1	1	4	2	4	1	2	2	4	3	2	2	2	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1417G>A	p.Val473Ile	p.V473I	ENST00000297814	4/18	192	178	14	155	155	0	strelka-varscan-mutect	KIF27,missense_variant,p.Val473Ile,ENST00000297814,NM_017576.2;KIF27,missense_variant,p.Val473Ile,ENST00000413982,NM_001271927.1;KIF27,missense_variant,p.Val473Ile,ENST00000334204,NM_001271928.1;KIF27,intron_variant,,ENST00000495062,;	T	ENST00000297814	Transcript	missense_variant	1561/4653	1417/4206	473/1401	V/I	Gtt/Att		1		-1	KIF27	HGNC	HGNC:18632	protein_coding	YES	CCDS6665.1	ENSP00000297814	Q86VH2		UPI000018F32F	NM_017576.2	tolerated(1)		4/18																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	83903101	83903101	C	T	1	0	0	0	0	1	0	0	0	8161	478	17	3		3	KIF27	9	83903101	Missense_Mutation	SNP	C	C3N-00580_TP	7196949	83903101	54491616	550	20010											
BICD2	0	.	GRCh38	chr9	92720489	92720489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggcatcgttgttgggCtcggcagcatcgtcactgaa	6	10	13	12	4	1	1	1	1	0	0	5	1	1	1	1	3	1	6	1	3	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.873G>T	p.Glu291Asp	p.E291D	ENST00000356884	4/7	519	251	268	397	397	0	strelka-varscan-mutect	BICD2,missense_variant,p.Glu291Asp,ENST00000356884,NM_001003800.1;BICD2,missense_variant,p.Glu291Asp,ENST00000375512,NM_015250.3;	A	ENST00000356884	Transcript	missense_variant	941/6427	873/2568	291/855	E/D	gaG/gaT		1		-1	BICD2	HGNC	HGNC:17208	protein_coding	YES	CCDS35064.1	ENSP00000349351	Q8TD16		UPI00001BBAF1	NM_001003800.1	tolerated(0.11)		4/7		Pfam_domain:PF09730,hmmpanther:PTHR31233,hmmpanther:PTHR31233:SF7,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1430942149	.												A	3	1	62	92720489	92720489	C	A	1	0	0	0	0	1	0	0	0	1578	796	28	2		2	BICD2	9	92720489	Missense_Mutation	SNP	C	C3N-00580_TP	8817388	92720489	45674228	551	20011											
COL15A1	0	.	GRCh38	chr9	99055289	99055289	+	Frame_Shift_Del	DEL	G	G	-																															atggagacaaggggttcaaaGgtgaaaaaggagaaaaagga																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.3110delG	p.Gly1037ValfsTer116	p.G1037Vfs*116	ENST00000375001	34/42	200	137	63	200	200	0	sindel-varindel-pindel	COL15A1,frameshift_variant,p.Gly1037ValfsTer116,ENST00000375001,NM_001855.4;COL15A1,frameshift_variant,p.Gly1023ValfsTer116,ENST00000610452,;	-	ENST00000375001	Transcript	frameshift_variant	3532/5496	3109/4167	1037/1388	G/X	Ggt/gt		1		1	COL15A1	HGNC	HGNC:2192	protein_coding	YES	CCDS35081.1	ENSP00000364140	P39059		UPI0000211506	NM_001855.4			34/42		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF559,hmmpanther:PTHR24023																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	62	99055289	99055289	G	-	1	0	1	0	1	0	0	0	0	3460	1000	35	0		0	COL15A1	9	99055289	Frame_Shift_Del	DEL	G	C3N-00580_TP	6334800	99055289	39339428	552	20012											
OR13C2	0	.	GRCh38	chr9	104605350	104605350	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcactgcacagccagaaaggGaaatggtctttctttctgaa	12	10	10	9	0	3	2	0	1	3	1	3	3	3	3	1	2	2	2	1	2	3	2			C3N-00580_TP	C3N-00580_NB	G	G																c.278C>G	p.Ser93Cys	p.S93C	ENST00000542196	1/1	274	246	28	284	284	0	varscan-mutect	OR13C2,missense_variant,p.Ser93Cys,ENST00000542196,NM_001004481.1;	C	ENST00000542196	Transcript	missense_variant	278/957	278/957	93/318	S/C	tCc/tGc	COSM1314342	1		-1	OR13C2	HGNC	HGNC:14701	protein_coding	YES	CCDS35092.1	ENSP00000438815	Q8NGS9	A0A126GWR7	UPI0000041B29	NM_001004481.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF279,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245											1						MODERATE	1	SNV			1	1										PASS		.	.												C	3	2	62	104605350	104605350	G	C	1	0	0	0	0	1	0	0	0	11010	1174	41	4		4	OR13C2	9	104605350	Missense_Mutation	SNP	G	C3N-00580_TP	5550061	104605350	33789367	553	20013											
OR13D1	0	.	GRCh38	chr9	104695422	104695439	+	In_Frame_Del	DEL	AGAAAGTCCTGAGCAGAC	AGAAAGTCCTGAGCAGAC	-																															agaggtcaaagaggctgtaaAgaaagtcctgagcagacatc																								novel		C3N-00580_TP	C3N-00580_NB	AGAAAGTCCTGAGCAGAC	AGAAAGTCCTGAGCAGAC																c.1002_1019delGAAAGTCCTGAGCAGACA	p.Lys334_His340delinsAsn	p.K334_H340delinsN	ENST00000318763	1/1	47	22	25	47	47	0	sindel-varindel-pindel	OR13D1,inframe_deletion,p.Lys334_His340delinsAsn,ENST00000318763,NM_001004484.1;	-	ENST00000318763	Transcript	inframe_deletion	1001-1018/1041	1001-1018/1041	334-340/346	KKVLSRH/N	aAGAAAGTCCTGAGCAGACat/aat		1		1	OR13D1	HGNC	HGNC:14695	protein_coding	YES	CCDS35094.1	ENSP00000317357	Q8NGV5		UPI0000061E68	NM_001004484.1			1/1		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF268,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	deletion		1		1										PASS		.	.												-	7	5	62	104695422	104695422	AGAAAGTCCTGAGCAGAC	-	1	0	1	0	1	0	0	0	0	11016	72	3	0		0	OR13D1	9	104695422	In_Frame_Del	DEL	AGAAAGTCCTGAGCAGAC	C3N-00580_TP	90072	104695422	33699295	554	20014											
PAPPA	0	.	GRCh38	chr9	116187781	116187781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcagctctcaagtttccGccagcccaaggtggtgcgct	8	9	10	14	2	2	0	2	0	1	0	4	0	3	0	3	2	3	3	3	2	3	1			C3N-00580_TP	C3N-00580_NB	G	G																c.1043G>A	p.Arg348His	p.R348H	ENST00000328252	2/22	497	448	49	435	435	0	strelka-varscan-mutect	PAPPA,missense_variant,p.Arg348His,ENST00000328252,NM_002581.3;	A	ENST00000328252	Transcript	missense_variant	1412/10959	1043/4884	348/1627	R/H	cGc/cAc	COSM202128	1		1	PAPPA	HGNC	HGNC:8602	protein_coding	YES	CCDS6813.1	ENSP00000330658	Q13219		UPI00001E0589	NM_002581.3	deleterious(0)		2/22		Gene3D:3.40.390.10											1						MODERATE	1	SNV	1		1	1										PASS		rs1025262255	.												A	3	1	62	116187781	116187781	G	A	1	0	0	0	0	1	0	0	0	11512	1087	38	1		1	PAPPA	9	116187781	Missense_Mutation	SNP	G	C3N-00580_TP	11492359	116187781	22206936	555	20015											
TLR4	0	.	GRCh38	chr9	117712844	117712844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaagaaataattttgataGtttaaatgtaatgaaaactt	18	17	5	1	0	0	3	0	2	0	1	0	3	0	3	0	0	1	2	0	0	9	10	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.716G>T	p.Ser239Ile	p.S239I	ENST00000355622	3/3	312	145	167	261	261	0	strelka-varscan-mutect	TLR4,missense_variant,p.Ser239Ile,ENST00000355622,NM_138554.4;TLR4,missense_variant,p.Ser199Ile,ENST00000394487,NM_003266.3;RNU6-1082P,upstream_gene_variant,,ENST00000364574,;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,downstream_gene_variant,,ENST00000490685,;	T	ENST00000355622	Transcript	missense_variant	817/4844	716/2520	239/839	S/I	aGt/aTt		1		1	TLR4	HGNC	HGNC:11850	protein_coding	YES	CCDS6818.1	ENSP00000363089	O00206		UPI0000137057	NM_138554.4	deleterious(0)		3/3		hmmpanther:PTHR24365:SF230,hmmpanther:PTHR24365,Gene3D:3.80.10.10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	117712844	117712844	G	T	1	0	0	0	0	1	0	0	0	16399	1029	36	2		2	TLR4	9	117712844	Missense_Mutation	SNP	G	C3N-00580_TP	1525063	117712844	20681873	556	20016											
OR1L3	0	.	GRCh38	chr9	122675637	122675637	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatcggctcaccttttgtAcatcaaatgttatccatcat	11	15	5	10	1	3	1	3	1	0	0	5	1	4	1	2	1	1	3	2	1	4	4			C3N-00580_TP	C3N-00580_NB	A	A																c.508A>T	p.Thr170Ser	p.T170S	ENST00000304820	1/1	191	157	34	232	231	1	strelka-varscan-mutect	OR1L3,missense_variant,p.Thr170Ser,ENST00000304820,NM_001005234.1;	T	ENST00000304820	Transcript	missense_variant	508/975	508/975	170/324	T/S	Aca/Tca	COSM3903834	1		1	OR1L3	HGNC	HGNC:8215	protein_coding	YES	CCDS35128.1	ENSP00000302863	Q8NH93	A0A126GVD1	UPI000004618D	NM_001005234.1	tolerated(0.31)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF198,SMART_domains:SM01381,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	62	122675637	122675637	A	T	1	0	0	0	0	1	0	0	0	11042	391	14	4		4	OR1L3	9	122675637	Missense_Mutation	SNP	A	C3N-00580_TP	4962793	122675637	15719080	557	20017											
CRB2	0	.	GRCh38	chr9	123370936	123370936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatctgtggactcatttccGttgcgactgtgcccggcccc	4	11	12	14	3	2	0	1	0	1	0	3	3	3	2	4	3	2	1	4	3	0	2	rs765111298		C3N-00580_TP	C3N-00580_NB	G	G																c.1883G>T	p.Arg628Leu	p.R628L	ENST00000373631	7/13	109	47	62	120	120	0	strelka-varscan-mutect	CRB2,missense_variant,p.Arg628Leu,ENST00000373631,NM_173689.6;CRB2,missense_variant,p.Arg628Leu,ENST00000359999,;CRB2,missense_variant,p.Arg296Leu,ENST00000460253,;	T	ENST00000373631	Transcript	missense_variant	1884/5550	1883/3858	628/1285	R/L	cGt/cTt	rs765111298,COSM3324259,COSM3664073	1		1	CRB2	HGNC	HGNC:18688	protein_coding	YES	CCDS6852.2	ENSP00000362734	Q5IJ48		UPI000022D9DE	NM_173689.6	deleterious(0.04)		7/13		Gene3D:2gy5A03,Pfam_domain:PF00008,PROSITE_patterns:PS00010,PROSITE_profiles:PS50026,hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF1,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF49899											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs765111298	.												T	3	4	62	123370936	123370936	G	T	1	0	0	0	0	1	0	0	0	3649	1145	40	1		1	CRB2	9	123370936	Missense_Mutation	SNP	G	C3N-00580_TP	695299	123370936	15023781	558	20018											
HMCN2	0	.	GRCh38	chr9	130302884	130302884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtcagcatggcccccaGgatccatggctacctgcacc	7	7	9	18	1	1	0	1	0	0	0	3	1	2	1	6	3	3	3	6	3	1	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1301G>T	p.Arg434Met	p.R434M	ENST00000624552	9/98	88	69	19	112	112	0	strelka-varscan-mutect	HMCN2,missense_variant,p.Arg434Met,ENST00000624552,NM_001291815.1;HMCN2,upstream_gene_variant,,ENST00000611173,;	T	ENST00000624552	Transcript	missense_variant	1301/15610	1301/15180	434/5059	R/M	aGg/aTg		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	deleterious(0.04)		9/98		SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	130302884	130302884	G	T	1	0	0	0	0	1	0	0	0	7112	1000	35	2		2	HMCN2	9	130302884	Missense_Mutation	SNP	G	C3N-00580_TP	6931948	130302884	8091833	559	20019											
TSC1	0	.	GRCh38	chr9	132905874	132905874	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtctggcattccctgtcTcccgcagggctttcatcagc	6	11	10	14	1	4	0	2	0	2	0	6	1	5	0	2	2	1	3	2	2	1	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1704A>T	p.=	p.G568G	ENST00000298552	15/23	110	86	24	117	117	0	strelka-varscan-mutect	TSC1,synonymous_variant,p.=,ENST00000298552,NM_000368.4,NM_001162426.1;TSC1,synonymous_variant,p.=,ENST00000440111,;TSC1,synonymous_variant,p.=,ENST00000545250,NM_001162427.1;TSC1,downstream_gene_variant,,ENST00000493467,;	A	ENST00000298552	Transcript	synonymous_variant	1926/8604	1704/3495	568/1164	G	ggA/ggT		1		-1	TSC1	HGNC	HGNC:12362	protein_coding	YES	CCDS6956.1	ENSP00000298552	Q92574	X5D9D2	UPI000013773E	NM_000368.4,NM_001162426.1			15/23		Pfam_domain:PF04388,hmmpanther:PTHR15154																	LOW	1	SNV	1			1										PASS		rs1171240569	.												A	2	1	62	132905874	132905874	T	A	1	0	0	0	0	0	0	0	1	17111	1538	54	4		4	TSC1	9	132905874	Silent	SNP	T	C3N-00580_TP	2602990	132905874	5488843	560	20020											
GFI1B	0	.	GRCh38	chr9	132988345	132988345	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccaccatgcagtcagcCttcctggagcactccgtcag	7	8	8	18	1	2	0	2	0	0	0	5	1	5	1	6	1	3	2	6	1	0	1	rs146898098		C3N-00580_TP	C3N-00580_NB	C	C																c.387C>A	p.=	p.A129A	ENST00000339463	8/11	445	210	235	522	522	0	strelka-varscan-mutect	GFI1B,synonymous_variant,p.=,ENST00000339463,NM_004188.5;GFI1B,synonymous_variant,p.=,ENST00000636137,;GFI1B,synonymous_variant,p.=,ENST00000372122,;GFI1B,synonymous_variant,p.=,ENST00000636263,;GFI1B,synonymous_variant,p.=,ENST00000372123,NM_001135031.1;	A	ENST00000339463	Transcript	synonymous_variant	1206/2449	387/993	129/330	A	gcC/gcA	rs146898098	1		1	GFI1B	HGNC	HGNC:4238	protein_coding	YES	CCDS6957.1	ENSP00000344782	Q5VTD9		UPI000013E4EE	NM_004188.5			8/11																			LOW	1	SNV	1			1										PASS		rs146898098	.												A	2	1	62	132988345	132988345	C	A	1	0	0	0	0	0	0	0	1	6214	668	24	2		2	GFI1B	9	132988345	Silent	SNP	C	C3N-00580_TP	82471	132988345	5406372	561	20021											
SNAPC4	0	.	GRCh38	chr9	136388473	136388473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggatgtggctgccgacgCgcatctcctgcaccagctgc	6	7	14	14	3	1	0	0	0	1	0	2	2	1	1	3	3	4	4	3	3	0	0			C3N-00580_TP	C3N-00580_NB	C	C																c.1094G>A	p.Arg365His	p.R365H	ENST00000298532	10/23	174	146	28	171	171	0	strelka-varscan-mutect	SNAPC4,missense_variant,p.Arg365His,ENST00000298532,NM_003086.2;SNAPC4,missense_variant,p.Arg365His,ENST00000637388,;	T	ENST00000298532	Transcript	missense_variant	1463/5010	1094/4410	365/1469	R/H	cGc/cAc	COSM1461068	1		-1	SNAPC4	HGNC	HGNC:11137	protein_coding	YES	CCDS6998.1	ENSP00000298532	Q5SXM2	A0A024R8F4	UPI000013E4EC	NM_003086.2	deleterious(0)		10/23		Gene3D:1.10.10.60,PROSITE_profiles:PS50090,SMART_domains:SM00717,Superfamily_domains:SSF46689											1						MODERATE	1	SNV	1		1	1										PASS		rs1221816864	.												T	3	4	62	136388473	136388473	C	T	1	0	0	0	0	1	0	0	0	15158	768	27	1		1	SNAPC4	9	136388473	Missense_Mutation	SNP	C	C3N-00580_TP	3400128	136388473	2006244	562	20022											
SDCCAG3	0	.	GRCh38	chr9	136402791	136402791	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaacacccaggggtcctcaAgagtcttcctcctcgtcttt	8	11	8	14	1	3	2	1	0	2	2	7	2	6	2	4	2	1	0	4	2	2	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1305T>C	p.=	p.S435S	ENST00000357365	10/10	166	78	88	178	178	0	strelka-varscan-mutect	SDCCAG3,synonymous_variant,p.=,ENST00000298537,NM_006643.3;SDCCAG3,synonymous_variant,p.=,ENST00000357365,NM_001039707.1;SDCCAG3,synonymous_variant,p.=,ENST00000371725,NM_001039708.1;SDCCAG3,synonymous_variant,p.=,ENST00000417512,;SNAPC4,upstream_gene_variant,,ENST00000298532,NM_003086.2;SNAPC4,upstream_gene_variant,,ENST00000637388,;SDCCAG3,downstream_gene_variant,,ENST00000371723,;SDCCAG3,non_coding_transcript_exon_variant,,ENST00000461693,;SDCCAG3,non_coding_transcript_exon_variant,,ENST00000466579,;SDCCAG3,non_coding_transcript_exon_variant,,ENST00000481114,;SDCCAG3,downstream_gene_variant,,ENST00000468963,;SDCCAG3,downstream_gene_variant,,ENST00000486441,;	G	ENST00000357365	Transcript	synonymous_variant	1435/2304	1305/1308	435/435	S	tcT/tcC		1		-1	SDCCAG3	HGNC	HGNC:10667	protein_coding	YES	CCDS43904.1	ENSP00000349929	Q96C92		UPI00006C511A	NM_001039707.1			10/10		hmmpanther:PTHR31259																	LOW		SNV	5			1										PASS		.	.												G	2	3	62	136402791	136402791	A	G	1	0	0	0	0	0	0	0	1	14229	59	3	5		5	SDCCAG3	9	136402791	Silent	SNP	A	C3N-00580_TP	14318	136402791	1991926	563	20023											
RABL6	0	.	GRCh38	chr9	136823595	136823595	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccgcctgcagggccggccGttcgtggaggagtacatccc	6	6	14	15	4	0	0	0	0	0	0	2	2	1	2	5	4	2	3	5	4	1	2	rs368002409		C3N-00580_TP	C3N-00580_NB	G	G																c.201G>A	p.=	p.P67P	ENST00000425121	2/15	168	151	17	225	224	1	strelka-varscan-mutect	RABL6,synonymous_variant,p.=,ENST00000311502,NM_024718.4;RABL6,synonymous_variant,p.=,ENST00000436380,;RABL6,synonymous_variant,p.=,ENST00000371663,;RABL6,synonymous_variant,p.=,ENST00000425121,NM_001173988.1;RABL6,synonymous_variant,p.=,ENST00000357466,;RABL6,synonymous_variant,p.=,ENST00000371671,NM_001173989.2;RABL6,synonymous_variant,p.=,ENST00000629216,;RABL6,upstream_gene_variant,,ENST00000466096,;RABL6,upstream_gene_variant,,ENST00000461992,;RABL6,synonymous_variant,p.=,ENST00000464941,;RABL6,synonymous_variant,p.=,ENST00000484471,;RP11-216L13.18,non_coding_transcript_exon_variant,,ENST00000471502,;	A	ENST00000425121	Transcript	synonymous_variant	201/2193	201/2193	67/730	P	ccG/ccA	rs368002409	1		1	RABL6	HGNC	HGNC:24703	protein_coding	YES	CCDS55352.1	ENSP00000395490		H0Y4Z8	UPI0000E0C208	NM_001173988.1			2/15		PROSITE_profiles:PS51419,hmmpanther:PTHR14932,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449																	LOW	1	SNV	1			1										PASS		rs368002409	.												A	2	1	62	136823595	136823595	G	A	1	0	0	0	0	0	0	0	1	13132	1132	40	1		1	RABL6	9	136823595	Silent	SNP	G	C3N-00580_TP	420804	136823595	1571122	564	20024											
PTGDS	0	.	GRCh38	chr9	136977629	136977629	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggccctgctgggggtgctGggcgacctgcaggcagcacc	4	6	17	14	1	0	0	0	0	0	0	0	1	0	0	3	5	4	5	3	5	0	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.51G>T	p.=	p.L17L	ENST00000371625	1/7	98	44	54	201	201	0	strelka-varscan-mutect	PTGDS,synonymous_variant,p.=,ENST00000371625,NM_000954.5;PTGDS,synonymous_variant,p.=,ENST00000457950,;PTGDS,upstream_gene_variant,,ENST00000446677,;PTGDS,upstream_gene_variant,,ENST00000444903,;RP11-229P13.19,downstream_gene_variant,,ENST00000413913,;PTGDS,synonymous_variant,p.=,ENST00000471521,;PTGDS,non_coding_transcript_exon_variant,,ENST00000371623,;LCNL1,upstream_gene_variant,,ENST00000482657,;PTGDS,upstream_gene_variant,,ENST00000492068,;PTGDS,upstream_gene_variant,,ENST00000460340,;PTGDS,upstream_gene_variant,,ENST00000462514,;	T	ENST00000371625	Transcript	synonymous_variant	125/807	51/573	17/190	L	ctG/ctT		1		1	PTGDS	HGNC	HGNC:9592	protein_coding	YES	CCDS7019.1	ENSP00000360687	P41222	A0A024R8G3	UPI00001317A4	NM_000954.5			1/7		Gene3D:2.40.128.20,hmmpanther:PTHR11430,hmmpanther:PTHR11430:SF86,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	136977629	136977629	G	T	1	0	0	0	0	0	0	0	1	12896	1335	47	2		2	PTGDS	9	136977629	Silent	SNP	G	C3N-00580_TP	154034	136977629	1417088	565	20025											
DIP2C	0	.	GRCh38	chr10	419110	419110	+	Frame_Shift_Del	DEL	T	T	-																															gttgccgtacttgggcgctgTccgggaccccgtggaaccct																								rs200266725		C3N-00580_TP	C3N-00580_NB	T	T																c.694delA	p.Thr232GlnfsTer19	p.T232Qfs*19	ENST00000280886	6/37	293	202	91	337	337	0	sindel-varindel-pindel	DIP2C,frameshift_variant,p.Thr232GlnfsTer19,ENST00000280886,NM_014974.2;DIP2C,frameshift_variant,p.Thr213GlnfsTer19,ENST00000381496,;DIP2C,frameshift_variant,p.Thr288GlnfsTer19,ENST00000634311,;	-	ENST00000280886	Transcript	frameshift_variant	784/7888	694/4671	232/1556	T/X	Aca/ca	rs200266725	1		-1	DIP2C	HGNC	HGNC:29150	protein_coding	YES	CCDS7054.1	ENSP00000280886	Q9Y2E4		UPI00001833B9	NM_014974.2			6/37		hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	62	419110	419110	T	-	1	0	1	0	1	0	0	0	0	4334	1667	58	0		0	DIP2C	10	419110	Frame_Shift_Del	DEL	T	C3N-00580_TP		419110	133378312	566	20026											
GTPBP4	0	.	GRCh38	chr10	1012574	1012574	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaatccgacagctggcaaAgcaaattcgagagaaaaaga	19	4	11	7	2	0	2	0	0	0	2	2	6	1	3	1	2	2	3	1	2	5	1	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1454A>T	p.Lys485Met	p.K485M	ENST00000360803	14/17	336	270	66	366	366	0	strelka-varscan-mutect	GTPBP4,missense_variant,p.Lys485Met,ENST00000360803,NM_012341.2;GTPBP4,non_coding_transcript_exon_variant,,ENST00000483839,;GTPBP4,downstream_gene_variant,,ENST00000491635,;	T	ENST00000360803	Transcript	missense_variant	1915/5075	1454/1905	485/634	K/M	aAg/aTg		1		1	GTPBP4	HGNC	HGNC:21535	protein_coding	YES	CCDS31132.1	ENSP00000354040	Q9BZE4	D2CFK9	UPI000000D960	NM_012341.2	tolerated(0.05)		14/17		Low_complexity_(Seg):seg,hmmpanther:PTHR11702:SF4,hmmpanther:PTHR11702,PIRSF_domain:PIRSF038919																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	1012574	1012574	A	T	1	0	0	0	0	1	0	0	0	6763	72	3	4		4	GTPBP4	10	1012574	Missense_Mutation	SNP	A	C3N-00580_TP	593464	1012574	132784848	567	20027											
ADARB2	0	.	GRCh38	chr10	1233726	1233726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtagggagagtggagtCttgcgtctccacagggggag	7	9	17	8	2	3	1	0	0	3	1	5	4	3	3	1	4	1	1	1	4	1	2			C3N-00580_TP	C3N-00580_NB	C	C																c.1481G>T	p.Arg494Ile	p.R494I	ENST00000381312	6/10	167	110	57	199	199	0	strelka-varscan-mutect	ADARB2,missense_variant,p.Arg494Ile,ENST00000381312,NM_018702.3;ADARB2,non_coding_transcript_exon_variant,,ENST00000469464,;	A	ENST00000381312	Transcript	missense_variant	1807/8421	1481/2220	494/739	R/I	aGa/aTa	COSM158919	1		-1	ADARB2	HGNC	HGNC:227	protein_coding	YES	CCDS7058.1	ENSP00000370713	Q9NS39		UPI0000071776	NM_018702.3	deleterious(0)		6/10		PROSITE_profiles:PS50141,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF17,Pfam_domain:PF02137,SMART_domains:SM00552											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	62	1233726	1233726	C	A	1	0	0	0	0	1	0	0	0	327	913	32	2		2	ADARB2	10	1233726	Missense_Mutation	SNP	C	C3N-00580_TP	221152	1233726	132563696	568	20028											
IL2RA	0	.	GRCh38	chr10	6021490	6021490	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctacctggaaactgacTggtctccatttcacctgtgc	8	11	7	15	0	2	1	1	1	1	0	3	2	2	2	4	2	3	0	4	2	2	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.571A>T	p.Ser191Cys	p.S191C	ENST00000379959	4/8	418	331	87	432	432	0	strelka-varscan-mutect	IL2RA,missense_variant,p.Ser191Cys,ENST00000379959,NM_000417.2;IL2RA,intron_variant,,ENST00000379954,NM_001308242.1;IL2RA,intron_variant,,ENST00000256876,;IL2RA,intron_variant,,ENST00000447847,;SNORA14,upstream_gene_variant,,ENST00000516113,;RP11-536K7.5,upstream_gene_variant,,ENST00000440436,;	A	ENST00000379959	Transcript	missense_variant	745/3176	571/819	191/272	S/C	Agt/Tgt		1		-1	IL2RA	HGNC	HGNC:6008	protein_coding	YES	CCDS7076.1	ENSP00000369293	P01589		UPI000012D4A3	NM_000417.2	tolerated(0.05)		4/8		hmmpanther:PTHR10573,hmmpanther:PTHR10573:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	6021490	6021490	T	A	1	0	0	0	0	1	0	0	0	7585	1580	55	4		4	IL2RA	10	6021490	Missense_Mutation	SNP	T	C3N-00580_TP	4787764	6021490	127775932	569	20029											
PRKCQ	0	.	GRCh38	chr10	6483593	6483593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagactcccaggaaatgccCtgaggctctgaaaatgcaag	13	6	12	10	0	1	3	0	2	1	1	2	5	2	4	2	3	2	2	2	3	4	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1026G>T	p.Gln342His	p.Q342H	ENST00000263125	11/18	158	99	59	146	146	0	strelka-varscan-mutect	PRKCQ,missense_variant,p.Gln342His,ENST00000263125,NM_001323265.1,NM_006257.4,NM_001282644.1;PRKCQ,missense_variant,p.Gln217His,ENST00000539722,NM_001323266.1,NM_001282645.1;PRKCQ,missense_variant,p.Gln342His,ENST00000397176,NM_001242413.2;PRKCQ,missense_variant,p.Gln306His,ENST00000610727,;	A	ENST00000263125	Transcript	missense_variant	1126/3285	1026/2121	342/706	Q/H	caG/caT		1		-1	PRKCQ	HGNC	HGNC:9410	protein_coding	YES	CCDS7079.1	ENSP00000263125	Q04759		UPI000012DF74	NM_001323265.1,NM_006257.4,NM_001282644.1	tolerated(0.22)		11/18		PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501105																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	6483593	6483593	C	A	1	0	0	0	0	1	0	0	0	12648	680	24	2		2	PRKCQ	10	6483593	Missense_Mutation	SNP	C	C3N-00580_TP	462103	6483593	127313829	570	20030											
ECHDC3	0	.	GRCh38	chr10	11742636	11742636	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccatgtgtctccggcgCggcccctgggcccagctccc	2	6	14	19	3	1	0	0	0	1	0	3	0	2	0	6	4	1	1	6	4	0	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.60C>A	p.=	p.R20R	ENST00000379215	1/5	37	32	5	33	33	0	strelka-varscan-mutect	ECHDC3,synonymous_variant,p.=,ENST00000379215,NM_024693.4;ECHDC3,synonymous_variant,p.=,ENST00000420401,;ECHDC3,upstream_gene_variant,,ENST00000422887,;ECHDC3,non_coding_transcript_exon_variant,,ENST00000496136,;ECHDC3,upstream_gene_variant,,ENST00000495787,;	A	ENST00000379215	Transcript	synonymous_variant	271/1649	60/912	20/303	R	cgC/cgA		1		1	ECHDC3	HGNC	HGNC:23489	protein_coding	YES	CCDS7084.1	ENSP00000368517	Q96DC8		UPI00001F8B44	NM_024693.4			1/5																			LOW	1	SNV	1			1										PASS		rs1268601230	.												A	2	1	62	11742636	11742636	C	A	1	0	0	0	0	0	0	0	1	4721	755	27	1		1	ECHDC3	10	11742636	Silent	SNP	C	C3N-00580_TP	5259043	11742636	122054786	571	20031											
MCM10	0	.	GRCh38	chr10	13195153	13195153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccccaggctggagggagccCcggccacaatgacgcccaag	9	3	13	16	2	0	1	0	1	0	0	1	3	1	3	6	4	1	1	6	4	2	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1861C>T	p.Pro621Ser	p.P621S	ENST00000484800	14/20	483	387	96	427	427	0	strelka-varscan-mutect	MCM10,missense_variant,p.Pro620Ser,ENST00000378694,;MCM10,missense_variant,p.Pro620Ser,ENST00000378714,NM_018518.4;MCM10,missense_variant,p.Pro621Ser,ENST00000484800,NM_182751.2;MCM10,non_coding_transcript_exon_variant,,ENST00000481292,;MCM10,non_coding_transcript_exon_variant,,ENST00000459751,;MCM10,upstream_gene_variant,,ENST00000485659,;	T	ENST00000484800	Transcript	missense_variant	1964/3157	1861/2628	621/875	P/S	Ccg/Tcg		1		1	MCM10	HGNC	HGNC:18043	protein_coding	YES	CCDS7096.1	ENSP00000418268	Q7L590		UPI000013C5E2	NM_182751.2	tolerated(0.57)		14/20		Pfam_domain:PF09332,hmmpanther:PTHR13454,SMART_domains:SM01280																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	13195153	13195153	C	T	1	0	0	0	0	1	0	0	0	9317	623	22	3		3	MCM10	10	13195153	Missense_Mutation	SNP	C	C3N-00580_TP	1452517	13195153	120602269	572	20032											
MRC1	0	.	GRCh38	chr10	17809479	17809479	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccatgaggctaccccTgctcctggtttttgcctctg	3	13	11	14	0	1	1	0	1	1	0	2	1	2	1	5	3	3	3	5	3	1	3	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.14T>A	p.Leu5Gln	p.L5Q	ENST00000569591	1/30	852	484	368	809	809	0	strelka-varscan-mutect	MRC1,missense_variant,p.Leu5Gln,ENST00000569591,NM_002438.3;	A	ENST00000569591	Transcript	missense_variant	136/5198	14/4371	5/1456	L/Q	cTg/cAg		1		1	MRC1	HGNC	HGNC:7228	protein_coding	YES	CCDS7123.2	ENSP00000455897	P22897		UPI000012EB9A	NM_002438.3	tolerated(0.06)		1/30		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	17809479	17809479	T	A	1	0	0	0	0	1	0	0	0	9722	1580	55	4		4	MRC1	10	17809479	Missense_Mutation	SNP	T	C3N-00580_TP	4614326	17809479	115987943	573	20033											
SLC39A12	0	.	GRCh38	chr10	17961835	17961835	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatatcttggctttcaccagGcagtactttgacacttctca	9	14	7	11	0	3	1	2	1	2	0	4	2	3	1	1	2	1	3	1	2	2	6	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.516G>C	p.Arg172Ser	p.R172S	ENST00000377369	3/13	136	112	24	107	107	0	strelka-varscan-mutect	SLC39A12,missense_variant,p.Arg172Ser,ENST00000377369,NM_001145195.1;SLC39A12,missense_variant,p.Arg172Ser,ENST00000377371,NM_001282733.1;SLC39A12,missense_variant,p.Arg172Ser,ENST00000377374,NM_152725.3;SLC39A12,missense_variant,p.Arg38Ser,ENST00000539911,NM_001282734.1;	C	ENST00000377369	Transcript	missense_variant	789/2808	516/2076	172/691	R/S	agG/agC		1		1	SLC39A12	HGNC	HGNC:20860	protein_coding	YES	CCDS44362.1	ENSP00000366586	Q504Y0		UPI00004044FC	NM_001145195.1	tolerated(0.08)		3/13		hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	17961835	17961835	G	C	1	0	0	0	0	1	0	0	0	14893	1194	42	4		4	SLC39A12	10	17961835	Missense_Mutation	SNP	G	C3N-00580_TP	152356	17961835	115835587	574	20034											
PLXDC2	0	.	GRCh38	chr10	20245500	20245500	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagccagcatcttctttAttgaggtaagtgttgagttt	9	15	10	7	0	2	2	0	2	2	0	2	2	2	2	1	1	3	5	1	1	2	7	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1468A>T	p.Ile490Phe	p.I490F	ENST00000377252	13/14	116	72	44	98	98	0	strelka-varscan-mutect	PLXDC2,missense_variant,p.Ile490Phe,ENST00000377252,NM_032812.8;PLXDC2,missense_variant,p.Ile441Phe,ENST00000377242,NM_001282736.1;PLXDC2,non_coding_transcript_exon_variant,,ENST00000377238,;	T	ENST00000377252	Transcript	missense_variant	2309/12468	1468/1590	490/529	I/F	Att/Ttt		1		1	PLXDC2	HGNC	HGNC:21013	protein_coding	YES	CCDS7132.1	ENSP00000366460	Q6UX71		UPI0000048F2C	NM_032812.8	deleterious(0.01)		13/14		hmmpanther:PTHR13055:SF11,hmmpanther:PTHR13055																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	20245500	20245500	A	T	1	0	0	0	0	1	0	0	0	12224	463	16	4		4	PLXDC2	10	20245500	Missense_Mutation	SNP	A	C3N-00580_TP	2283665	20245500	113551922	575	20035											
MYO3A	0	.	GRCh38	chr10	25996503	25996503	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtttagctctgcagtggagGatcagtgactgaccttgtga	8	13	13	7	0	2	3	1	3	1	0	2	5	2	5	1	2	2	3	1	2	1	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.317G>T	p.Gly106Val	p.G106V	ENST00000265944	5/35	447	361	86	444	444	0	strelka-varscan-mutect	MYO3A,missense_variant,p.Gly106Val,ENST00000265944,NM_017433.4;MYO3A,missense_variant,p.Gly106Val,ENST00000376302,;MYO3A,missense_variant,p.Gly106Val,ENST00000543632,;MYO3A,missense_variant,p.Gly106Val,ENST00000376301,;	T	ENST00000265944	Transcript	missense_variant	483/5581	317/4851	106/1616	G/V	gGa/gTa		1		1	MYO3A	HGNC	HGNC:7601	protein_coding	YES	CCDS7148.1	ENSP00000265944	Q8NEV4		UPI000014140A	NM_017433.4	deleterious(0)		5/35		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs1254755444	.												T	3	4	62	25996503	25996503	G	T	1	0	0	0	0	1	0	0	0	10077	1174	41	2		2	MYO3A	10	25996503	Missense_Mutation	SNP	G	C3N-00580_TP	5751003	25996503	107800919	576	20036											
MYO3A	0	.	GRCh38	chr10	26096386	26096386	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctttttttccagtggagAaaaaaattttcatatttttt	12	21	4	4	0	2	1	1	0	1	1	3	2	3	1	1	1	0	0	1	1	5	10	rs763004892		C3N-00580_TP	C3N-00580_NB	A	A																c.1568A>G	p.Glu523Gly	p.E523G	ENST00000265944	16/35	262	150	112	212	212	0	strelka-varscan-mutect	MYO3A,missense_variant,p.Glu523Gly,ENST00000265944,NM_017433.4;MYO3A,missense_variant,p.Glu523Gly,ENST00000543632,;	G	ENST00000265944	Transcript	missense_variant	1734/5581	1568/4851	523/1616	E/G	gAa/gGa	rs763004892	1		1	MYO3A	HGNC	HGNC:7601	protein_coding	YES	CCDS7148.1	ENSP00000265944	Q8NEV4		UPI000014140A	NM_017433.4	deleterious(0)		16/35		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF387,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	26096386	26096386	A	G	1	0	0	0	0	1	0	0	0	10077	260	9	5		5	MYO3A	10	26096386	Missense_Mutation	SNP	A	C3N-00580_TP	99883	26096386	107701036	577	20037											
ARHGAP12	0	.	GRCh38	chr10	31808722	31808722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgattaggtccttaaCagcagcgactcgctgtcttg	7	13	10	11	2	2	1	0	1	2	0	4	2	3	1	1	1	3	2	1	1	2	3	rs34750454		C3N-00580_TP	C3N-00580_NB	C	C																c.2293G>T	p.Val765Phe	p.V765F	ENST00000344936	19/20	227	183	44	253	253	0	strelka-varscan-mutect	ARHGAP12,missense_variant,p.Val760Phe,ENST00000396144,NM_001270695.1;ARHGAP12,missense_variant,p.Val718Phe,ENST00000375245,NM_001270697.1;ARHGAP12,missense_variant,p.Val735Phe,ENST00000375250,NM_001270696.1,NM_001270698.1;ARHGAP12,missense_variant,p.Val713Phe,ENST00000311380,NM_001270699.1;ARHGAP12,missense_variant,p.Val765Phe,ENST00000344936,NM_018287.6;ARHGAP12,non_coding_transcript_exon_variant,,ENST00000492028,;ARHGAP12,non_coding_transcript_exon_variant,,ENST00000493008,;ARHGAP12,upstream_gene_variant,,ENST00000497085,;ARHGAP12,downstream_gene_variant,,ENST00000497103,;	A	ENST00000344936	Transcript	missense_variant	2528/4128	2293/2541	765/846	V/F	Gtt/Ttt	rs34750454	1		-1	ARHGAP12	HGNC	HGNC:16348	protein_coding	YES	CCDS7170.1	ENSP00000345808	Q8IWW6		UPI000007445E	NM_018287.6	deleterious(0.03)		19/20		PROSITE_profiles:PS50238,hmmpanther:PTHR23181:SF3,hmmpanther:PTHR23181,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350																	MODERATE	1	SNV	1			1										PASS		rs34750454	.												A	3	1	62	31808722	31808722	C	A	1	0	0	0	0	1	0	0	0	989	478	17	2		2	ARHGAP12	10	31808722	Missense_Mutation	SNP	C	C3N-00580_TP	5712336	31808722	101988700	578	20038											
ZNF37A	0	.	GRCh38	chr10	38118833	38118833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaacgagggaaattactctgGgtgaagtcagaactttgtag	14	10	12	5	1	2	2	1	1	1	1	2	4	2	3	0	2	3	1	0	2	6	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1682G>T	p.Gly561Val	p.G561V	ENST00000361085	7/7	33	16	17	26	26	0	strelka-varscan-mutect	ZNF37A,missense_variant,p.Gly561Val,ENST00000361085,NM_001178101.1,NM_003421.2;ZNF37A,missense_variant,p.Gly561Val,ENST00000351773,NM_001324248.1,NM_001324246.1,NM_001324249.1,NM_001007094.2;ZNF37A,intron_variant,,ENST00000638053,NM_001324256.1;ZNF37A,downstream_gene_variant,,ENST00000479469,;ZNF37A,downstream_gene_variant,,ENST00000477790,;	T	ENST00000361085	Transcript	missense_variant	2027/8738	1682/1686	561/561	G/V	gGg/gTg		1		1	ZNF37A	HGNC	HGNC:13102	protein_coding	YES	CCDS31183.1	ENSP00000354377	P17032		UPI000006E045	NM_001178101.1,NM_003421.2	deleterious_low_confidence(0)		7/7																			MODERATE	1	SNV	2			1										PASS		rs1263606238	.												T	3	4	62	38118833	38118833	G	T	1	0	0	0	0	1	0	0	0	18444	1232	43	2		2	ZNF37A	10	38118833	Missense_Mutation	SNP	G	C3N-00580_TP	6310111	38118833	95678589	579	20039											
AGAP14P	0	.	GRCh38	chr10	46358142	46358142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttgaacttgggagtcCtcatgtgtattgaatgctca	9	14	10	8	0	2	2	2	2	0	0	3	3	3	3	2	1	2	3	2	1	3	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1486C>A	p.Leu496Ile	p.L496I	ENST00000624701	9/9	1446	1203	243	1390	1390	0	strelka-varscan-mutect	AGAP14P,missense_variant,p.Leu496Ile,ENST00000624701,;	A	ENST00000624701	Transcript	missense_variant	1486/2058	1486/2058	496/685	L/I	Ctc/Atc		1		1	AGAP14P	HGNC	HGNC:23660	protein_coding	YES		ENSP00000485140		A0A096LNP0	UPI000514C5BF		deleterious(0.02)		9/9		PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF213,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863,Prints_domain:PR00405																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	46358142	46358142	C	A	1	0	0	0	0	1	0	0	0	444	681	24	2		2	AGAP14P	10	46358142	Missense_Mutation	SNP	C	C3N-00580_TP	8239309	46358142	87439280	580	20040											
PTPN20	0	.	GRCh38	chr10	46984540	46984540	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaatatttcatcattcgAatgtttcaagttgtggagaa	12	16	7	6	1	4	1	4	0	0	1	5	3	4	1	0	1	0	2	0	1	5	6	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.894A>C	p.=	p.R298R	ENST00000374339	7/10	183	95	88	146	146	0	strelka-varscan-mutect	PTPN20,synonymous_variant,p.=,ENST00000374218,NM_001320686.1,NM_001042363.3;PTPN20,synonymous_variant,p.=,ENST00000395721,NM_001320681.1,NM_001320685.1;PTPN20,synonymous_variant,p.=,ENST00000506080,;PTPN20,synonymous_variant,p.=,ENST00000374339,NM_001042357.3;PTPN20,synonymous_variant,p.=,ENST00000511769,NM_001042358.3;PTPN20,synonymous_variant,p.=,ENST00000505814,;PTPN20,synonymous_variant,p.=,ENST00000395727,NM_001042360.2;PTPN20,intron_variant,,ENST00000374346,NM_001320683.1,NM_015605.7;PTPN20,intron_variant,,ENST00000395725,NM_001042364.3;PTPN20,intron_variant,,ENST00000395722,NM_001320682.1,NM_001320690.1;PTPN20,intron_variant,,ENST00000374342,NM_001042365.2;PTPN20,intron_variant,,ENST00000509599,;PTPN20,intron_variant,,ENST00000513156,NM_001042359.2;PTPN20,intron_variant,,ENST00000502705,;PTPN20,intron_variant,,ENST00000513266,;PTPN20,intron_variant,,ENST00000509774,NM_001042361.3;PTPN20,intron_variant,,ENST00000508602,;PTPN20,intron_variant,,ENST00000509900,;PTPN20,intron_variant,,ENST00000513756,;PTPN20,intron_variant,,ENST00000502254,;PTPN20,intron_variant,,ENST00000508715,;PTPN20,intron_variant,,ENST00000417004,;PTPN20,intron_variant,,ENST00000503851,NM_001042362.2;PTPN20,intron_variant,,ENST00000513159,;PTPN20,3_prime_UTR_variant,,ENST00000437863,;PTPN20,3_prime_UTR_variant,,ENST00000510335,;PTPN20,downstream_gene_variant,,ENST00000508357,;	C	ENST00000374339	Transcript	synonymous_variant	971/1388	894/1263	298/420	R	cgA/cgC		1		1	PTPN20	HGNC	HGNC:23423	protein_coding	YES	CCDS73110.1	ENSP00000363459	Q4JDL3		UPI00000473F4	NM_001042357.3			7/10		PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF271,hmmpanther:PTHR19134,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00194,Superfamily_domains:SSF52799																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	62	46984540	46984540	A	C	1	0	0	0	0	0	0	0	1	12939	233	9	5		5	PTPN20	10	46984540	Silent	SNP	A	C3N-00580_TP	626398	46984540	86812882	581	20041											
WDFY4	0	.	GRCh38	chr10	48810645	48810645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctgctgctgtactttctgGcaagcccctccctccgcaca	6	10	8	17	1	1	0	0	0	1	0	3	0	3	0	4	1	5	6	4	1	2	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.4954G>A	p.Ala1652Thr	p.A1652T	ENST00000325239	28/61	253	208	45	228	227	1	strelka-varscan-mutect	WDFY4,missense_variant,p.Ala1652Thr,ENST00000325239,NM_020945.1;WDFY4,missense_variant,p.Ala199Thr,ENST00000374161,;	A	ENST00000325239	Transcript	missense_variant	4954/9555	4954/9555	1652/3184	A/T	Gca/Aca		1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1	tolerated(0.05)		28/61		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	48810645	48810645	G	A	1	0	0	0	0	1	0	0	0	17831	1203	42	3		3	WDFY4	10	48810645	Missense_Mutation	SNP	G	C3N-00580_TP	1826105	48810645	84986777	582	20042											
WDFY4	0	.	GRCh38	chr10	48820314	48820314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacagtggagggtctccaGgctcccaccaaggcacatcc	10	5	11	15	0	1	0	0	0	1	0	4	1	3	1	4	4	1	3	4	4	1	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.5586G>T	p.Gln1862His	p.Q1862H	ENST00000325239	32/61	597	355	242	438	438	0	strelka-varscan-mutect	WDFY4,missense_variant,p.Gln1862His,ENST00000325239,NM_020945.1;WDFY4,missense_variant,p.Gln409His,ENST00000374161,;WDFY4,upstream_gene_variant,,ENST00000265453,;	T	ENST00000325239	Transcript	missense_variant	5586/9555	5586/9555	1862/3184	Q/H	caG/caT		1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1	deleterious(0.04)		32/61		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85																	MODERATE	1	SNV	5			1										PASS		rs1402503654	.												T	3	4	62	48820314	48820314	G	T	1	0	0	0	0	1	0	0	0	17831	991	35	2		2	WDFY4	10	48820314	Missense_Mutation	SNP	G	C3N-00580_TP	9669	48820314	84977108	583	20043											
WDFY4	0	.	GRCh38	chr10	48900220	48900220	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggggcttctcttcacaGgacatcgccctggagatctt	10	10	10	11	1	3	1	1	0	2	1	5	3	3	2	1	4	0	1	1	4	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.7438-1G>A		p.X2480_splice	ENST00000325239		134	107	27	159	159	0	strelka-varscan-mutect	WDFY4,splice_acceptor_variant,,ENST00000325239,NM_020945.1;WDFY4,splice_acceptor_variant,,ENST00000265453,;RP11-523O18.7,intron_variant,,ENST00000430438,;	A	ENST00000325239	Transcript	splice_acceptor_variant	-/9555	7438/9555	2480/3184				1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1				44/60																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	62	48900220	48900220	G	A	1	0	0	0	0	0	0	1	0	17831	1014	35	3		3	WDFY4	10	48900220	Splice_Site	SNP	G	C3N-00580_TP	79906	48900220	84897202	584	20044											
C10orf71	0	.	GRCh38	chr10	49325444	49325444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctatgcctctggtgggagagGgggaccgggtgaaggcacca	8	6	18	9	1	1	2	0	1	1	1	1	4	1	3	3	6	1	1	3	6	2	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2899G>T	p.Gly967Trp	p.G967W	ENST00000374144	3/3	124	70	54	114	114	0	strelka-varscan-mutect	C10orf71,missense_variant,p.Gly967Trp,ENST00000374144,NM_001135196.1;	T	ENST00000374144	Transcript	missense_variant	3187/5230	2899/4308	967/1435	G/W	Ggg/Tgg		1		1	C10orf71	HGNC	HGNC:26973	protein_coding	YES	CCDS44387.1	ENSP00000363259	Q711Q0		UPI0000161572	NM_001135196.1	deleterious(0)		3/3		hmmpanther:PTHR33775																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	49325444	49325444	G	T	1	0	0	0	0	1	0	0	0	1769	1232	43	2		2	C10orf71	10	49325444	Missense_Mutation	SNP	G	C3N-00580_TP	425224	49325444	84471978	585	20045											
PGBD3	0	.	GRCh38	chr10	49515670	49515670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaagagggcttgaatacCatttctttccacggattgat	13	12	8	8	1	1	3	0	2	1	1	2	4	2	4	2	2	1	1	2	2	4	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2849G>T	p.Trp950Leu	p.W950L	ENST00000515869	6/6	214	114	100	179	178	1	strelka-varscan-mutect	ERCC6,missense_variant,p.Trp950Leu,ENST00000515869,NM_001277059.1;ERCC6,missense_variant,p.Trp950Leu,ENST00000447839,NM_001277058.1;PGBD3,missense_variant,p.Trp482Leu,ENST00000374127,NM_170753.3;ERCC6,intron_variant,,ENST00000355832,NM_000124.3;	A	ENST00000515869	Transcript	missense_variant	2970/3439	2849/3186	950/1061	W/L	tGg/tTg		1		-1	ERCC6	HGNC	HGNC:3438	protein_coding		CCDS60529.1	ENSP00000423550		E7EV46	UPI00001F98BA	NM_001277059.1	deleterious_low_confidence(0)		6/6		hmmpanther:PTHR28576:SF3,hmmpanther:PTHR28576,Pfam_domain:PF13843																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	62	49515670	49515670	C	A	1	0	0	0	0	1	0	0	0	11872	595	21	2		2	PGBD3	10	49515670	Missense_Mutation	SNP	C	C3N-00580_TP	190226	49515670	84281752	586	20046											
SLC18A3	0	.	GRCh38	chr10	49611296	49611296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgcggcgcgcagcctgcagGgcctgggctcagccttcgcc	3	6	15	17	5	1	0	1	0	0	0	3	0	1	0	4	3	3	3	4	3	0	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.556G>T	p.Gly186Cys	p.G186C	ENST00000374115	1/1	383	228	155	385	385	0	strelka-varscan-mutect	SLC18A3,missense_variant,p.Gly186Cys,ENST00000374115,NM_003055.2;CHAT,intron_variant,,ENST00000339797,NM_020984.3;CHAT,upstream_gene_variant,,ENST00000395562,NM_001142933.1;CHAT,upstream_gene_variant,,ENST00000337653,NM_020549.4;CHAT,upstream_gene_variant,,ENST00000351556,NM_020985.3,NM_001142934.1,NM_001142929.1;CHAT,upstream_gene_variant,,ENST00000395559,NM_020986.3;CHAT,upstream_gene_variant,,ENST00000460699,;CHAT,upstream_gene_variant,,ENST00000490270,;CHAT,upstream_gene_variant,,ENST00000481336,;CHAT,upstream_gene_variant,,ENST00000466590,;	T	ENST00000374115	Transcript	missense_variant	996/2420	556/1599	186/532	G/C	Ggc/Tgc		1		1	SLC18A3	HGNC	HGNC:10936	protein_coding	YES	CCDS7231.1	ENSP00000363229	Q16572		UPI00001F98C1	NM_003055.2	deleterious(0)		1/1		PROSITE_profiles:PS50850,hmmpanther:PTHR23506,hmmpanther:PTHR23506:SF13,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	MODERATE		SNV				1										PASS		.	.												T	3	4	62	49611296	49611296	G	T	1	0	0	0	0	1	0	0	0	14692	1232	43	2		2	SLC18A3	10	49611296	Missense_Mutation	SNP	G	C3N-00580_TP	95626	49611296	84186126	587	20047											
CTNNA3	0	.	GRCh38	chr10	66280613	66280613	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcacttgtgttacaaattCaggaattactgttaaaataa	16	15	5	5	0	2	0	2	0	0	0	2	1	2	1	0	1	2	2	0	1	7	7	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1741G>C	p.Glu581Gln	p.E581Q	ENST00000433211	13/18	147	130	17	134	134	0	strelka-varscan-mutect	CTNNA3,missense_variant,p.Glu581Gln,ENST00000433211,NM_001127384.2,NM_013266.3;	G	ENST00000433211	Transcript	missense_variant	1916/10675	1741/2688	581/895	E/Q	Gaa/Caa		1		-1	CTNNA3	HGNC	HGNC:2511	protein_coding	YES	CCDS7269.1	ENSP00000389714	Q9UI47		UPI000004A0E6	NM_001127384.2,NM_013266.3	tolerated(0.66)		13/18		hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF21,Gene3D:1.20.120.230,Pfam_domain:PF01044,Superfamily_domains:SSF47220																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	66280613	66280613	C	G	1	0	0	0	0	1	0	0	0	3823	835	29	4		4	CTNNA3	10	66280613	Missense_Mutation	SNP	C	C3N-00580_TP	16669317	66280613	67516809	588	20048											
LRRTM3	0	.	GRCh38	chr10	66927036	66927036	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctaagggctgtaggtgTgaaggcaaaatggtatattg	11	11	14	5	0	0	1	0	1	0	0	0	1	0	1	1	4	1	4	1	4	7	5	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.120T>G	p.Cys40Trp	p.C40W	ENST00000361320	2/3	212	181	31	210	210	0	strelka-varscan-mutect	LRRTM3,missense_variant,p.Cys40Trp,ENST00000361320,NM_178011.4;CTNNA3,intron_variant,,ENST00000433211,NM_001127384.2,NM_013266.3;CTNNA3,intron_variant,,ENST00000494580,;	G	ENST00000361320	Transcript	missense_variant	698/4358	120/1746	40/581	C/W	tgT/tgG		1		1	LRRTM3	HGNC	HGNC:19410	protein_coding	YES	CCDS7270.1	ENSP00000355187	Q86VH5		UPI0000088C0F	NM_178011.4	deleterious(0)		2/3		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF54,SMART_domains:SM00013,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	66927036	66927036	T	G	1	0	0	0	0	1	0	0	0	8947	1702	59	5		5	LRRTM3	10	66927036	Missense_Mutation	SNP	T	C3N-00580_TP	646423	66927036	66870386	589	20049											
PALD1	0	.	GRCh38	chr10	70532633	70532633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctagatccacgactttGcccagctgagcgagaacaca	11	7	8	15	2	1	3	0	1	1	2	2	5	2	3	3	0	4	1	3	0	2	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.646G>T	p.Ala216Ser	p.A216S	ENST00000263563	6/20	166	86	80	126	126	0	strelka-varscan-mutect	PALD1,missense_variant,p.Ala216Ser,ENST00000263563,NM_014431.2;	T	ENST00000263563	Transcript	missense_variant	914/4555	646/2571	216/856	A/S	Gcc/Tcc		1		1	PALD1	HGNC	HGNC:23530	protein_coding	YES	CCDS31215.1	ENSP00000263563	Q9ULE6	A0A024QZM5	UPI00001C1EDC	NM_014431.2	deleterious(0)		6/20		hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF54,Pfam_domain:PF14566,SMART_domains:SM01301,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	70532633	70532633	G	T	1	0	0	0	0	1	0	0	0	11486	1319	46	2		2	PALD1	10	70532633	Missense_Mutation	SNP	G	C3N-00580_TP	3605597	70532633	63264789	590	20050											
TBATA	0	.	GRCh38	chr10	70777241	70777241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctggtgagatctgcggCggccgacagcccgggtggaa	6	5	18	12	4	1	1	0	1	1	1	1	4	1	2	3	6	2	0	3	6	1	0	rs761828147		C3N-00580_TP	C3N-00580_NB	C	C																c.602G>T	p.Arg201Leu	p.R201L	ENST00000299290	7/11	233	84	149	323	323	0	strelka-varscan-mutect	TBATA,missense_variant,p.Arg202Leu,ENST00000456372,NM_001318241.1;TBATA,missense_variant,p.Arg201Leu,ENST00000299290,NM_001318243.1,NM_152710.2;TBATA,upstream_gene_variant,,ENST00000394982,;	A	ENST00000299290	Transcript	missense_variant	992/1583	602/1056	201/351	R/L	cGc/cTc	rs761828147	1		-1	TBATA	HGNC	HGNC:23511	protein_coding	YES	CCDS7308.1	ENSP00000299290	Q96M53		UPI000013E57C	NM_001318243.1,NM_152710.2	deleterious(0.02)		7/11		Low_complexity_(Seg):seg,hmmpanther:PTHR33772,hmmpanther:PTHR33772:SF3,Pfam_domain:PF15256																	MODERATE	1	SNV	1			1										PASS		rs761828147	.												A	3	1	62	70777241	70777241	C	A	1	0	0	0	0	1	0	0	0	15996	768	27	1		1	TBATA	10	70777241	Missense_Mutation	SNP	C	C3N-00580_TP	244608	70777241	63020181	591	20051											
CDH23	0	.	GRCh38	chr10	71811515	71811515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgctcccgcagatggCgatcatcgtcctggctatcc	5	10	11	15	3	1	1	1	0	0	1	6	2	5	1	4	3	1	3	4	3	1	1	rs372434845		C3N-00580_TP	C3N-00580_NB	C	C																c.2483C>A	p.Ala828Glu	p.A828E	ENST00000398788	17/23	443	159	284	349	349	0	strelka-varscan-mutect	CDH23,missense_variant,p.Ala3073Glu,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Ala3068Glu,ENST00000622827,;CDH23,missense_variant,p.Ala828Glu,ENST00000398788,NM_001171933.1;CDH23,missense_variant,p.Ala828Glu,ENST00000619887,NM_001171934.1;PSAP,downstream_gene_variant,,ENST00000394936,NM_002778.2,NM_001042465.1,NM_001042466.1;PSAP,downstream_gene_variant,,ENST00000394934,;PSAP,downstream_gene_variant,,ENST00000610929,;CDH23,non_coding_transcript_exon_variant,,ENST00000475158,;	A	ENST00000398788	Transcript	missense_variant	2800/4329	2483/3345	828/1114	A/E	gCg/gAg	rs372434845	1		1	CDH23	HGNC	HGNC:13733	protein_coding	YES	CCDS53540.1	ENSP00000381768	Q9H251		UPI0000496839	NM_001171933.1	deleterious(0.03)		17/23		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF277,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs372434845	.												A	3	1	62	71811515	71811515	C	A	1	0	0	0	0	1	0	0	0	2811	782	27	1		1	CDH23	10	71811515	Missense_Mutation	SNP	C	C3N-00580_TP	1034274	71811515	61985907	592	20052											
KCNMA1	0	.	GRCh38	chr10	77086498	77086498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctccttaccttgactcttGcaagatcatgtggattgagg	8	14	9	10	0	2	3	1	2	1	1	4	4	4	4	3	2	2	1	3	2	2	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1430C>T	p.Ala477Val	p.A477V	ENST00000286628	11/28	559	212	347	517	517	0	strelka-varscan-mutect	KCNMA1,missense_variant,p.Ala338Val,ENST00000604624,NM_001322832.1,NM_001322829.1;KCNMA1,missense_variant,p.Ala477Val,ENST00000286627,NM_002247.3;KCNMA1,missense_variant,p.Ala477Val,ENST00000286628,NM_001161352.1;KCNMA1,missense_variant,p.Ala309Val,ENST00000354353,;KCNMA1,missense_variant,p.Ala309Val,ENST00000406533,NM_001322837.1,NM_001271519.1;KCNMA1,missense_variant,p.Ala477Val,ENST00000372443,;KCNMA1,missense_variant,p.Ala477Val,ENST00000372440,NM_001014797.2;KCNMA1,missense_variant,p.Ala477Val,ENST00000404771,;KCNMA1,missense_variant,p.Ala451Val,ENST00000457953,;KCNMA1,missense_variant,p.Ala477Val,ENST00000626620,NM_001161353.1;KCNMA1,missense_variant,p.Ala412Val,ENST00000372437,;KCNMA1,missense_variant,p.Ala451Val,ENST00000372421,;KCNMA1,missense_variant,p.Ala414Val,ENST00000372408,;KCNMA1,missense_variant,p.Ala428Val,ENST00000372403,;KCNMA1,missense_variant,p.Ala309Val,ENST00000404857,NM_001271518.1;KCNMA1,missense_variant,p.Ala156Val,ENST00000434208,;KCNMA1,upstream_gene_variant,,ENST00000484507,;	A	ENST00000286628	Transcript	missense_variant	1430/6100	1430/3711	477/1236	A/V	gCa/gTa		1		-1	KCNMA1	HGNC	HGNC:6284	protein_coding	YES	CCDS60569.1	ENSP00000286628	Q12791		UPI00003519E7	NM_001161352.1	tolerated(0.07)		11/28		Gene3D:3.40.50.720,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF28,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	77086498	77086498	G	A	1	0	0	0	0	1	0	0	0	7990	1319	46	3		3	KCNMA1	10	77086498	Missense_Mutation	SNP	G	C3N-00580_TP	5274983	77086498	56710924	593	20053											
BMPR1A	0	.	GRCh38	chr10	86921679	86921679	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatttgggagatggctcgTcgttgtatcacaggaggtgg	8	12	15	6	2	2	1	2	0	0	1	4	3	2	2	0	5	0	3	0	5	1	3	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1326T>C	p.=	p.R442R	ENST00000372037	11/13	487	448	39	478	478	0	varscan-mutect	BMPR1A,synonymous_variant,p.=,ENST00000372037,NM_004329.2;BMPR1A,synonymous_variant,p.=,ENST00000635816,;BMPR1A,synonymous_variant,p.=,ENST00000636056,;	C	ENST00000372037	Transcript	synonymous_variant	1863/11255	1326/1599	442/532	R	cgT/cgC		1		1	BMPR1A	HGNC	HGNC:1076	protein_coding	YES	CCDS7378.1	ENSP00000361107	P36894		UPI000006EB08	NM_004329.2			11/13		PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF50,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	62	86921679	86921679	T	C	1	0	0	0	0	0	0	0	1	1624	1654	58	5		5	BMPR1A	10	86921679	Silent	SNP	T	C3N-00580_TP	9835181	86921679	46875743	594	20054											
IFIT1B	0	.	GRCh38	chr10	89384042	89384042	+	Silent	SNP	T	T	A																															gaaaagtacattgaagaagcTctgaccagtatatcttcaca																								novel		C3N-00580_TP	C3N-00580_NB	T	T																c.729T>A	p.=	p.A243A	ENST00000371809	2/2	254	110	144	243	243	0	strelka-varscan-mutect	IFIT1B,synonymous_variant,p.=,ENST00000371809,NM_001010987.2;LIPA,intron_variant,,ENST00000371837,;	A	ENST00000371809	Transcript	synonymous_variant	809/1972	729/1425	243/474	A	gcT/gcA		1		1	IFIT1B	HGNC	HGNC:23442	protein_coding	YES	CCDS31242.1	ENSP00000360874	Q5T764		UPI00001D8055	NM_001010987.2			2/2		PROSITE_profiles:PS50293,hmmpanther:PTHR10271:SF18,hmmpanther:PTHR10271,Gene3D:1.25.40.10,Superfamily_domains:SSF48452																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	89384042	89384042	T	A	1	0	0	0	0	0	0	0	1	7422	1538	54	4		4	IFIT1B	10	89384042	Silent	SNP	T	C3N-00580_TP	2462363	89384042	44413380	595	20055	423	2									
IFIT1B	0	.	GRCh38	chr10	89384043	89384043	+	Missense_Mutation	SNP	C	C	A																															aaaagtacattgaagaagctCtgaccagtatatcttcacag																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.730C>A	p.Leu244Met	p.L244M	ENST00000371809	2/2	255	109	146	248	248	0	strelka-varscan-mutect	IFIT1B,missense_variant,p.Leu244Met,ENST00000371809,NM_001010987.2;LIPA,intron_variant,,ENST00000371837,;	A	ENST00000371809	Transcript	missense_variant	810/1972	730/1425	244/474	L/M	Ctg/Atg		1		1	IFIT1B	HGNC	HGNC:23442	protein_coding	YES	CCDS31242.1	ENSP00000360874	Q5T764		UPI00001D8055	NM_001010987.2	tolerated(0.12)		2/2		PROSITE_profiles:PS50293,hmmpanther:PTHR10271:SF18,hmmpanther:PTHR10271,Gene3D:1.25.40.10,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	89384043	89384043	C	A	1	0	0	0	0	1	0	0	0	7422	912	32	2		2	IFIT1B	10	89384043	Missense_Mutation	SNP	C	C3N-00580_TP	1	89384043	44413379	596	20056	423	2									
LCOR	0	.	GRCh38	chr10	96983419	96983419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatattcccacacagcatGtggaggaggctgtgaatgag	11	8	14	8	0	0	2	0	2	0	0	1	4	1	4	1	4	1	3	1	4	2	2	rs752493286		C3N-00580_TP	C3N-00580_NB	G	G																c.2029G>T	p.Val677Leu	p.V677L	ENST00000286067	1/1	306	115	191	331	331	0	strelka-varscan-mutect	LCOR,missense_variant,p.Val959Leu,ENST00000421806,;LCOR,missense_variant,p.Val677Leu,ENST00000286067,NM_015652.2;	T	ENST00000286067	Transcript	missense_variant	2136/4542	2029/3744	677/1247	V/L	Gtg/Ttg	rs752493286	1		1	LCOR	HGNC	HGNC:29503	protein_coding	YES	CCDS7452.1	ENSP00000286067	Q8N655		UPI000006F242	NM_015652.2	tolerated(0.29)		1/1		hmmpanther:PTHR14931,hmmpanther:PTHR14931:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		rs752493286	.												T	3	4	62	96983419	96983419	G	T	1	0	0	0	0	1	0	0	0	8595	1377	48	2		2	LCOR	10	96983419	Missense_Mutation	SNP	G	C3N-00580_TP	7599376	96983419	36814003	597	20057											
SORCS1	0	.	GRCh38	chr10	106579223	106579223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctttctcattctgcatctGggcataaacattaatccccg	9	15	5	12	1	4	0	1	0	4	0	6	0	5	0	2	1	2	2	2	1	3	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2674C>A	p.Gln892Lys	p.Q892K	ENST00000612154	25/26	210	90	120	280	280	0	strelka-varscan-mutect	SORCS1,missense_variant,p.Gln892Lys,ENST00000612154,;SORCS1,missense_variant,p.Gln892Lys,ENST00000344440,;SORCS1,missense_variant,p.Gln669Lys,ENST00000369698,;SORCS1,missense_variant,p.Gln149Lys,ENST00000452214,;SORCS1,intron_variant,,ENST00000263054,NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1;SORCS1,intron_variant,,ENST00000622431,;SORCS1,non_coding_transcript_exon_variant,,ENST00000473866,;	T	ENST00000612154	Transcript	missense_variant	2845/6862	2674/2814	892/937	Q/K	Cag/Aag		1		-1	SORCS1	HGNC	HGNC:16697	protein_coding			ENSP00000478065		A0A087WTQ9	UPI0004E4CC23		deleterious(0)		25/26		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF8																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	62	106579223	106579223	G	T	1	0	0	0	0	1	0	0	0	15252	1357	47	2		2	SORCS1	10	106579223	Missense_Mutation	SNP	G	C3N-00580_TP	9595804	106579223	27218199	598	20058											
ADRA2A	0	.	GRCh38	chr10	111078495	111078495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacgccgcgccgcatcaagGccatcatcatcaccgtgtgg	8	6	11	16	5	4	0	4	0	0	0	4	0	4	0	4	2	0	2	4	2	1	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.499G>A	p.Ala167Thr	p.A167T	ENST00000280155	1/1	139	64	75	177	177	0	strelka-varscan-mutect	ADRA2A,missense_variant,p.Ala167Thr,ENST00000280155,NM_000681.3;	A	ENST00000280155	Transcript	missense_variant	1333/3745	499/1398	167/465	A/T	Gcc/Acc		1		1	ADRA2A	HGNC	HGNC:281	protein_coding	YES	CCDS7569.2	ENSP00000280155	P08913		UPI000018CE86	NM_000681.3	tolerated(0.07)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF24,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	62	111078495	111078495	G	A	1	0	0	0	0	1	0	0	0	413	1203	42	3		3	ADRA2A	10	111078495	Missense_Mutation	SNP	G	C3N-00580_TP	4499272	111078495	22718927	599	20059											
NRAP	0	.	GRCh38	chr10	113597118	113597118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatagctgttcttggcatGaaccaggtctggggagtcaa	10	11	12	8	0	3	1	1	1	2	0	3	2	3	2	1	4	2	3	1	4	4	4			C3N-00580_TP	C3N-00580_NB	G	G																c.4399C>A	p.His1467Asn	p.H1467N	ENST00000369358	37/42	203	106	97	261	261	0	strelka-varscan-mutect	NRAP,missense_variant,p.His1467Asn,ENST00000359988,NM_198060.3;NRAP,missense_variant,p.His1440Asn,ENST00000369360,;NRAP,missense_variant,p.His1467Asn,ENST00000369358,NM_001261463.1;NRAP,missense_variant,p.His1432Asn,ENST00000360478,NM_006175.4;	T	ENST00000369358	Transcript	missense_variant	4587/5534	4399/5196	1467/1731	H/N	Cat/Aat	COSM4494748	1		-1	NRAP	HGNC	HGNC:7988	protein_coding	YES	CCDS73199.1	ENSP00000358365		A0A0A0MRM2	UPI000264ECBD	NM_001261463.1	deleterious(0.03)		37/42		PROSITE_profiles:PS51216,hmmpanther:PTHR11039,SMART_domains:SM00227											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	62	113597118	113597118	G	T	1	0	0	0	0	1	0	0	0	10694	1290	45	2		2	NRAP	10	113597118	Missense_Mutation	SNP	G	C3N-00580_TP	2518623	113597118	20200304	600	20060											
GFRA1	0	.	GRCh38	chr10	116064406	116064406	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttaatgcagctatgatgTttctgttaaagataataggg	12	17	9	3	0	1	2	0	1	1	1	1	2	1	2	0	1	2	4	0	1	6	8	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1390A>T	p.Thr464Ser	p.T464S	ENST00000355422	11/11	408	199	209	349	347	2	strelka-varscan-mutect	GFRA1,missense_variant,p.Thr459Ser,ENST00000439649,NM_001145453.1;GFRA1,missense_variant,p.Thr459Ser,ENST00000369236,NM_145793.3;GFRA1,missense_variant,p.Thr464Ser,ENST00000355422,NM_005264.4;GFRA1,missense_variant,p.Thr464Ser,ENST00000369234,;	A	ENST00000355422	Transcript	missense_variant	1941/2583	1390/1398	464/465	T/S	Aca/Tca		1		-1	GFRA1	HGNC	HGNC:4243	protein_coding	YES	CCDS44481.1	ENSP00000347591	P56159		UPI000012B3A8	NM_005264.4	tolerated_low_confidence(0.45)		11/11		PIRSF_domain:PIRSF038071																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	116064406	116064406	T	A	1	0	0	0	0	1	0	0	0	6221	1725	60	4		4	GFRA1	10	116064406	Missense_Mutation	SNP	T	C3N-00580_TP	2467288	116064406	17733016	601	20061											
FAM24A	0	.	GRCh38	chr10	122911703	122911703	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcttactggttgccgcGatggtgctcctaagtgttgt	6	13	13	9	2	0	0	0	0	0	0	1	1	1	0	2	2	5	5	2	2	2	4	rs371905795		C3N-00580_TP	C3N-00580_NB	G	G																c.69G>T	p.=	p.A23A	ENST00000368894	2/3	185	86	99	281	281	0	strelka-varscan-mutect	FAM24A,synonymous_variant,p.=,ENST00000368894,NM_001029888.1;	T	ENST00000368894	Transcript	synonymous_variant	190/596	69/318	23/105	A	gcG/gcT	rs371905795,COSM915725	1		1	FAM24A	HGNC	HGNC:23470	protein_coding	YES	CCDS31304.1	ENSP00000357889	A6NFZ4		UPI0000160DCE	NM_001029888.1			2/3		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR35860,hmmpanther:PTHR35860:SF3											0,1						LOW	1	SNV	3		0,1	1										PASS		rs371905795	.												T	2	4	62	122911703	122911703	G	T	1	0	0	0	0	0	0	0	1	5426	1045	37	1		1	FAM24A	10	122911703	Silent	SNP	G	C3N-00580_TP	6847297	122911703	10885719	602	20062											
LHPP	0	.	GRCh38	chr10	124517272	124517272	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcgcaccgggaagttcagGtcagtgccagctggagtcat	8	8	15	10	2	3	0	3	0	0	0	3	2	3	2	2	3	3	3	2	3	1	1	rs745797938		C3N-00580_TP	C3N-00580_NB	G	G																c.716+1G>T		p.X239_splice	ENST00000368842		69	19	50	97	96	1	strelka-varscan-mutect	LHPP,splice_donor_variant,,ENST00000368842,NM_022126.3;LHPP,intron_variant,,ENST00000368839,NM_001167880.1;LHPP,non_coding_transcript_exon_variant,,ENST00000481452,;	T	ENST00000368842	Transcript	splice_donor_variant	-/1622	716/813	239/270			rs745797938	1		1	LHPP	HGNC	HGNC:30042	protein_coding	YES	CCDS7640.1	ENSP00000357835	Q9H008		UPI00001402EE	NM_022126.3				6/6																		HIGH	1	SNV	1			1										PASS		rs745797938	.												T	5	4	62	124517272	124517272	G	T	1	0	0	0	0	0	0	1	0	8678	1275	44	2		2	LHPP	10	124517272	Splice_Site	SNP	G	C3N-00580_TP	1605569	124517272	9280150	603	20063											
PTPRE	0	.	GRCh38	chr10	128073466	128073466	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggaggtgcaggagagaGagcaggtgaggagtgccgcc	10	4	20	7	2	0	4	0	2	0	2	0	8	0	6	2	5	3	2	2	5	0	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1594G>T	p.Glu532Ter	p.E532*	ENST00000254667	17/21	108	48	60	129	129	0	strelka-mutect	PTPRE,stop_gained,p.Glu532Ter,ENST00000254667,NM_001323355.1,NM_001316676.1,NM_001323356.1,NM_006504.4;PTPRE,stop_gained,p.Glu474Ter,ENST00000306042,NM_001323357.1,NM_130435.3;PTPRE,3_prime_UTR_variant,,ENST00000479896,;PTPRE,downstream_gene_variant,,ENST00000463727,;PTPRE,downstream_gene_variant,,ENST00000495530,;PTPRE,downstream_gene_variant,,ENST00000492479,;	T	ENST00000254667	Transcript	stop_gained	1873/5331	1594/2103	532/700	E/*	Gag/Tag		1		1	PTPRE	HGNC	HGNC:9669	protein_coding	YES	CCDS7657.1	ENSP00000254667	P23469		UPI0000132991	NM_001323355.1,NM_001316676.1,NM_001323356.1,NM_006504.4			17/21		Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF002006,PROSITE_profiles:PS50055,SMART_domains:SM00194,Superfamily_domains:SSF52799																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	62	128073466	128073466	G	T	1	0	0	0	0	0	1	0	0	12954	956	33	2		2	PTPRE	10	128073466	Nonsense_Mutation	SNP	G	C3N-00580_TP	3556194	128073466	5723956	604	20064											
MKI67	0	.	GRCh38	chr10	128106862	128106863	+	Frame_Shift_Ins	INS	-	-	AGTC																															ggctctgtgtgtgtgtgtgtINSagtctctcctgatgtctgtg																								novel		C3N-00580_TP	C3N-00580_NB	-	-																c.4974_4977dupGACT	p.Thr1660AspfsTer13	p.T1660Dfs*13	ENST00000368654	13/15	217	90	127	260	260	0	sindel-varindel-pindel	MKI67,frameshift_variant,p.Thr1660AspfsTer13,ENST00000368654,NM_002417.4;MKI67,frameshift_variant,p.Thr1300AspfsTer13,ENST00000368653,NM_001145966.1;MKI67,downstream_gene_variant,,ENST00000484853,;MKI67,upstream_gene_variant,,ENST00000464771,;	AGTC	ENST00000368654	Transcript	frameshift_variant	5353-5354/12678	4977-4978/9771	1659-1660/3256	-/DX	-/GACT		1		-1	MKI67	HGNC	HGNC:7107	protein_coding	YES	CCDS7659.1	ENSP00000357643	P46013		UPI000013DB54	NM_002417.4			13/15		Pfam_domain:PF08065,Low_complexity_(Seg):seg,SMART_domains:SM01295																	HIGH	1	insertion	2			1										PASS		.	.												AGTC	7	5	62	128106862	128106862	-	AGTC	1	0	1	1	0	0	0	0	0	9566	1638	57	0		0	MKI67	10	128106862	Frame_Shift_Ins	INS	-	C3N-00580_TP	33396	128106862	5690560	605	20065											
TCERG1L	0	.	GRCh38	chr10	131134402	131134402	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcctcttggttttcacatcTtggtcttccctgttgtcttc	2	21	6	12	0	5	0	1	0	4	0	8	0	7	0	2	2	0	2	2	2	0	8	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1236A>T	p.Gln412His	p.Q412H	ENST00000368642	8/12	207	109	98	315	315	0	strelka-varscan-mutect	TCERG1L,missense_variant,p.Gln412His,ENST00000368642,NM_174937.3;TCERG1L,non_coding_transcript_exon_variant,,ENST00000483040,;	A	ENST00000368642	Transcript	missense_variant	1322/2618	1236/1761	412/586	Q/H	caA/caT		1		-1	TCERG1L	HGNC	HGNC:23533	protein_coding	YES	CCDS7662.2	ENSP00000357631	Q5VWI1		UPI00004589C8	NM_174937.3	tolerated(0.26)		8/12		hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	131134402	131134402	T	A	1	0	0	0	0	1	0	0	0	16093	1606	56	4		4	TCERG1L	10	131134402	Missense_Mutation	SNP	T	C3N-00580_TP	3027540	131134402	2663020	606	20066											
TCERG1L	0	.	GRCh38	chr10	131146635	131146635	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggttgaagaagaaaactcGgtcatcgcccgtccagacca	12	7	11	11	3	1	4	1	1	0	3	4	4	2	4	3	2	1	1	3	2	4	1	rs776171772		C3N-00580_TP	C3N-00580_NB	G	G																c.1060C>A	p.=	p.R354R	ENST00000368642	7/12	137	65	72	112	112	0	strelka-varscan-mutect	TCERG1L,synonymous_variant,p.=,ENST00000368642,NM_174937.3;TCERG1L,non_coding_transcript_exon_variant,,ENST00000483040,;	T	ENST00000368642	Transcript	synonymous_variant	1146/2618	1060/1761	354/586	R	Cga/Aga	rs776171772	1		-1	TCERG1L	HGNC	HGNC:23533	protein_coding	YES	CCDS7662.2	ENSP00000357631	Q5VWI1		UPI00004589C8	NM_174937.3			7/12		Gene3D:2.20.70.10,PROSITE_profiles:PS50020,hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF5,SMART_domains:SM00456,Superfamily_domains:SSF51045																	LOW	1	SNV	1			1										PASS		rs776171772	.												T	2	4	62	131146635	131146635	G	T	1	0	0	0	0	0	0	0	1	16093	1124	39	1		1	TCERG1L	10	131146635	Silent	SNP	G	C3N-00580_TP	12233	131146635	2650787	607	20067											
KNDC1	0	.	GRCh38	chr10	133186317	133186317	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggccaccctctgcctgccGctgacccgcgggaaaagcca	8	4	12	17	3	1	1	0	1	1	0	1	3	1	2	6	2	3	1	6	2	2	0	rs754784016		C3N-00580_TP	C3N-00580_NB	G	G																c.969G>A	p.=	p.P323P	ENST00000304613	6/30	193	181	12	244	244	0	strelka-varscan-mutect	KNDC1,synonymous_variant,p.=,ENST00000304613,NM_152643.6;KNDC1,synonymous_variant,p.=,ENST00000368571,;	A	ENST00000304613	Transcript	synonymous_variant	990/6793	969/5250	323/1749	P	ccG/ccA	rs754784016,COSM1560871,COSM4175708	1		1	KNDC1	HGNC	HGNC:29374	protein_coding	YES	CCDS7674.1	ENSP00000304437	Q76NI1		UPI00003529F7	NM_152643.6			6/30		hmmpanther:PTHR21560,hmmpanther:PTHR21560:SF0											0,1,1						LOW	1	SNV	2		0,1,1	1										PASS		rs754784016	.												A	2	1	62	133186317	133186317	G	A	1	0	0	0	0	0	0	0	1	8304	1074	38	1		1	KNDC1	10	133186317	Silent	SNP	G	C3N-00580_TP	2039682	133186317	611105	608	20068											
CALY	0	.	GRCh38	chr10	133328881	133328881	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggagtggcggctggagctGgctgatgtccaaggggctga	7	7	20	7	1	0	2	0	2	0	0	1	4	1	4	1	7	1	4	1	7	1	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.109C>T	p.Gln37Ter	p.Q37*	ENST00000252939	2/6	142	119	23	183	183	0	strelka-varscan-mutect	CALY,stop_gained,p.Gln37Ter,ENST00000252939,NM_015722.3;CALY,stop_gained,p.Gln37Ter,ENST00000368558,;CALY,stop_gained,p.Gln37Ter,ENST00000368555,;ZNF511-PRAP1,intron_variant,,ENST00000368554,;CALY,upstream_gene_variant,,ENST00000467611,;CALY,upstream_gene_variant,,ENST00000467433,;	A	ENST00000252939	Transcript	stop_gained	203/2271	109/654	37/217	Q/*	Cag/Tag		1		-1	CALY	HGNC	HGNC:17938	protein_coding	YES	CCDS7678.1	ENSP00000252939	Q9NYX4		UPI0000001C76	NM_015722.3			2/6		Pfam_domain:PF06387,PIRSF_domain:PIRSF002383,hmmpanther:PTHR28546																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	62	133328881	133328881	G	A	1	0	0	0	0	0	1	0	0	2286	1357	47	3		3	CALY	10	133328881	Nonsense_Mutation	SNP	G	C3N-00580_TP	142564	133328881	468541	609	20069											
SYCE1	0	.	GRCh38	chr10	133555651	133555651	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagctgctggtggcgcTgggcagcagctgctaggagc	5	7	18	11	1	0	0	0	0	0	0	0	1	0	1	0	4	7	9	0	4	1	1	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.776A>T	p.Gln259Leu	p.Q259L	ENST00000343131	11/13	233	115	118	256	256	0	strelka-varscan-mutect	SYCE1,missense_variant,p.Gln223Leu,ENST00000368517,NM_130784.2;SYCE1,missense_variant,p.Gln259Leu,ENST00000343131,NM_001143764.1;SYCE1,missense_variant,p.Gln259Leu,ENST00000303903,NM_001143763.1;CYP2E1,non_coding_transcript_exon_variant,,ENST00000368520,;SYCE1,non_coding_transcript_exon_variant,,ENST00000479535,;	A	ENST00000343131	Transcript	missense_variant	881/1309	776/1056	259/351	Q/L	cAg/cTg		1		-1	SYCE1	HGNC	HGNC:28852	protein_coding	YES	CCDS44501.1	ENSP00000341282	Q8N0S2		UPI000013F901	NM_001143764.1	tolerated(0.19)		11/13		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21731:SF0,hmmpanther:PTHR21731																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	133555651	133555651	T	A	1	0	0	0	0	1	0	0	0	15816	1580	55	4		4	SYCE1	10	133555651	Missense_Mutation	SNP	T	C3N-00580_TP	226770	133555651	241771	610	20070											
AP2A2	0	.	GRCh38	chr11	1010706	1010706	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgtggccatcctgcagatGagcaccgtgtccagtgccac	7	9	11	14	2	0	2	0	1	0	1	3	2	2	2	5	1	3	2	5	1	0	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1136G>A	p.=	p.*379*	ENST00000534328	9/9	161	118	43	165	165	0	strelka-varscan-mutect	AP2A2,stop_retained_variant,p.=,ENST00000534328,;AP2A2,3_prime_UTR_variant,,ENST00000332231,NM_001242837.1;AP2A2,3_prime_UTR_variant,,ENST00000448903,NM_012305.3;MUC6,downstream_gene_variant,,ENST00000421673,NM_005961.2;MUC6,downstream_gene_variant,,ENST00000532016,;AP2A2,downstream_gene_variant,,ENST00000525891,;AP2A2,downstream_gene_variant,,ENST00000529438,;AP2A2,3_prime_UTR_variant,,ENST00000528815,;AP2A2,non_coding_transcript_exon_variant,,ENST00000531497,;AP2A2,downstream_gene_variant,,ENST00000526401,;AP2A2,downstream_gene_variant,,ENST00000528816,;AP2A2,downstream_gene_variant,,ENST00000526376,;AP2A2,downstream_gene_variant,,ENST00000529427,;	A	ENST00000534328	Transcript	stop_retained_variant	1278/1491	1136/1137	379/378	*	tGa/tAa		1		1	AP2A2	HGNC	HGNC:562	protein_coding			ENSP00000436059		E9PR62	UPI0001F782A3				9/9																			LOW		SNV	5			1										PASS		.	.												A	2	1	62	1010706	1010706	G	A	1	0	0	0	0	0	0	0	1	856	1285	45	3		3	AP2A2	11	1010706	Silent	SNP	G	C3N-00580_TP		1010706	134075916	611	20071											
MUC5AC	0	.	GRCh38	chr11	1163968	1163968	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaccctgtccctgaacccCcgaggaactgctccactggc	8	6	10	17	1	0	1	0	1	0	0	2	4	2	3	5	3	3	1	5	3	2	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.766C>A	p.Pro256Thr	p.P256T	ENST00000621226	7/49	311	230	81	418	417	1	strelka-varscan-mutect	MUC5AC,missense_variant,p.Pro256Thr,ENST00000621226,NM_001304359.1;	A	ENST00000621226	Transcript	missense_variant	813/17448	766/16965	256/5654	P/T	Ccg/Acg		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	tolerated(0.24)		7/49		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF291																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	1163968	1163968	C	A	1	0	0	0	0	1	0	0	0	9978	623	22	2		2	MUC5AC	11	1163968	Missense_Mutation	SNP	C	C3N-00580_TP	153262	1163968	133922654	612	20072											
MUC5AC	0	.	GRCh38	chr11	1186825	1186825	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaccaccagtacaaccTctgctcctacaaccagaaca	13	7	3	18	0	1	1	0	0	1	1	3	1	3	1	6	0	6	2	6	0	5	3	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.8680T>A	p.Ser2894Thr	p.S2894T	ENST00000621226	31/49	355	256	99	357	356	1	strelka-varscan-mutect	MUC5AC,missense_variant,p.Ser2894Thr,ENST00000621226,NM_001304359.1;	A	ENST00000621226	Transcript	missense_variant	8727/17448	8680/16965	2894/5654	S/T	Tct/Act		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	tolerated_low_confidence(0.34)		31/49		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	1186825	1186825	T	A	1	0	0	0	0	1	0	0	0	9978	1551	54	4		4	MUC5AC	11	1186825	Missense_Mutation	SNP	T	C3N-00580_TP	22857	1186825	133899797	613	20073											
MUC5AC	0	.	GRCh38	chr11	1187520	1187520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtcttggaactactcccagCcctattcctaccaccagcac	9	9	6	17	0	1	0	0	0	1	0	3	1	3	1	5	2	5	1	5	2	4	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.9375C>A	p.Ser3125Arg	p.S3125R	ENST00000621226	31/49	260	236	24	291	291	0	strelka-varscan-mutect	MUC5AC,missense_variant,p.Ser3125Arg,ENST00000621226,NM_001304359.1;	A	ENST00000621226	Transcript	missense_variant	9422/17448	9375/16965	3125/5654	S/R	agC/agA		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	tolerated(0.24)		31/49		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs748427101	.												A	3	1	62	1187520	1187520	C	A	1	0	0	0	0	1	0	0	0	9978	738	26	2		2	MUC5AC	11	1187520	Missense_Mutation	SNP	C	C3N-00580_TP	695	1187520	133899102	614	20074											
MUC5B	0	.	GRCh38	chr11	1247217	1247217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaccacccacacaccccCagtgccgaacaccacggcca	12	1	8	20	2	0	0	0	0	0	0	0	2	0	1	7	2	2	0	7	2	1	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.10337C>A	p.Pro3446Gln	p.P3446Q	ENST00000529681	31/49	669	473	196	850	849	1	strelka-varscan-mutect	MUC5B,missense_variant,p.Pro3446Gln,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;	A	ENST00000529681	Transcript	missense_variant	10395/17911	10337/17289	3446/5762	P/Q	cCa/cAa		1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2	tolerated(0.58)		31/49																			MODERATE	1	SNV	5			1										PASS		rs1242109246	.												A	3	1	62	1247217	1247217	C	A	1	0	0	0	0	1	0	0	0	9979	594	21	2		2	MUC5B	11	1247217	Missense_Mutation	SNP	C	C3N-00580_TP	59697	1247217	133839405	615	20075											
OR51E2	0	.	GRCh38	chr11	4682504	4682504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggatgtggataaggccaGgtcaatggctgcaagcatgc	10	8	16	7	0	1	0	1	0	0	0	1	2	1	2	1	6	3	3	1	6	3	1	rs765350267		C3N-00580_TP	C3N-00580_NB	G	G																c.208C>A	p.Leu70Met	p.L70M	ENST00000396950	2/2	293	183	110	228	228	0	strelka-varscan-mutect	OR51E2,missense_variant,p.Leu70Met,ENST00000396950,NM_030774.3;OR51E2,missense_variant,p.Leu70Met,ENST00000532598,;	T	ENST00000396950	Transcript	missense_variant	448/2781	208/963	70/320	L/M	Ctg/Atg	rs765350267	1		-1	OR51E2	HGNC	HGNC:15195	protein_coding	YES	CCDS7751.1	ENSP00000380153	Q9H255	A0A126GVK0	UPI000003B49B	NM_030774.3	deleterious(0.04)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF92,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs765350267	.												T	3	4	62	4682504	4682504	G	T	1	0	0	0	0	1	0	0	0	11169	991	35	2		2	OR51E2	11	4682504	Missense_Mutation	SNP	G	C3N-00580_TP	3435287	4682504	130404118	616	20076											
OR52A5	0	.	GRCh38	chr11	5132445	5132445	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgtggctgccaacatGgccaaaaaaatgtacatggg	13	9	11	8	0	1	0	0	0	1	0	1	0	1	0	2	3	3	2	2	3	5	1			C3N-00580_TP	C3N-00580_NB	G	G																c.198C>A	p.=	p.A66A	ENST00000307388	1/1	118	96	22	85	85	0	strelka-varscan-mutect	OR52A5,synonymous_variant,p.=,ENST00000307388,NM_001005160.2;	T	ENST00000307388	Transcript	synonymous_variant	198/951	198/951	66/316	A	gcC/gcA	COSM689110	1		-1	OR52A5	HGNC	HGNC:19580	protein_coding	YES	CCDS31373.1	ENSP00000303469	Q9H2C5	A0A126GWD2	UPI0000046AEF	NM_001005160.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF48,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	62	5132445	5132445	G	T	1	0	0	0	0	0	0	0	1	11183	1335	47	2		2	OR52A5	11	5132445	Silent	SNP	G	C3N-00580_TP	449941	5132445	129954177	617	20077											
OR52N4	0	.	GRCh38	chr11	5755447	5755447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcctcagcagatgctcGgcagaaggcctttaatacct	9	10	8	14	1	2	2	1	0	1	2	4	2	2	2	4	2	3	3	4	2	3	3	rs565267255		C3N-00580_TP	C3N-00580_NB	G	G																c.707G>T	p.Arg236Leu	p.R236L	ENST00000317254	1/1	363	234	129	373	373	0	strelka-varscan-mutect	OR52N4,missense_variant,p.Arg236Leu,ENST00000317254,NM_001005175.3;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	T	ENST00000317254	Transcript	missense_variant	755/1037	707/966	236/321	R/L	cGg/cTg	rs565267255	1		1	OR52N4	HGNC	HGNC:15230	protein_coding	YES	CCDS44528.1	ENSP00000323224	Q8NGI2		UPI00001AF18B	NM_001005175.3	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF74,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs565267255	.												T	3	4	62	5755447	5755447	G	T	1	0	0	0	0	1	0	0	0	11202	1116	39	1		1	OR52N4	11	5755447	Missense_Mutation	SNP	G	C3N-00580_TP	623002	5755447	129331175	618	20078											
OR52N1	0	.	GRCh38	chr11	5788750	5788750	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatccacaaatgcacatcttCcaaaccagggatgccattta	14	9	6	12	0	1	0	0	0	1	0	3	2	3	1	4	1	3	1	4	1	3	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.67G>T	p.Glu23Ter	p.E23*	ENST00000317078	1/1	118	80	38	138	138	0	strelka-varscan-mutect	OR52N1,stop_gained,p.Glu23Ter,ENST00000317078,NM_001001913.1;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	A	ENST00000317078	Transcript	stop_gained	67/963	67/963	23/320	E/*	Gaa/Taa		1		-1	OR52N1	HGNC	HGNC:14853	protein_coding	YES	CCDS31398.1	ENSP00000322823	Q8NH53		UPI0000041BDD	NM_001001913.1			1/1		hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF145,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	HIGH	1	SNV				1										PASS		.	.												A	4	1	62	5788750	5788750	C	A	1	0	0	0	0	0	1	0	0	11200	864	30	2		2	OR52N1	11	5788750	Nonsense_Mutation	SNP	C	C3N-00580_TP	33303	5788750	129297872	619	20079											
APBB1	0	.	GRCh38	chr11	6403151	6403151	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcttgaacaaaccttgatCcctgggttggtattccgtgg	8	13	11	9	1	1	2	0	2	1	0	3	2	3	2	3	3	2	2	3	3	3	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1098G>T	p.=	p.G366G	ENST00000609360	6/15	72	54	18	83	82	1	strelka-varscan-mutect	APBB1,synonymous_variant,p.=,ENST00000389906,;APBB1,synonymous_variant,p.=,ENST00000609360,NM_001164.4;APBB1,synonymous_variant,p.=,ENST00000299402,;APBB1,synonymous_variant,p.=,ENST00000311051,NM_145689.2;APBB1,synonymous_variant,p.=,ENST00000610474,;APBB1,synonymous_variant,p.=,ENST00000608394,NM_001257321.2;APBB1,synonymous_variant,p.=,ENST00000618005,;APBB1,synonymous_variant,p.=,ENST00000608704,NM_001257320.2;APBB1,synonymous_variant,p.=,ENST00000608645,NM_001257326.2;APBB1,synonymous_variant,p.=,ENST00000608655,NM_001257319.2;APBB1,synonymous_variant,p.=,ENST00000621678,;APBB1,synonymous_variant,p.=,ENST00000530885,NM_001257323.2;APBB1,synonymous_variant,p.=,ENST00000609331,NM_001257325.2;APBB1,synonymous_variant,p.=,ENST00000529890,;APBB1,intron_variant,,ENST00000529519,;APBB1,downstream_gene_variant,,ENST00000532020,;APBB1,synonymous_variant,p.=,ENST00000608435,;APBB1,non_coding_transcript_exon_variant,,ENST00000533407,;APBB1,non_coding_transcript_exon_variant,,ENST00000526925,;APBB1,non_coding_transcript_exon_variant,,ENST00000534188,;APBB1,non_coding_transcript_exon_variant,,ENST00000533139,;APBB1,upstream_gene_variant,,ENST00000524626,;APBB1,upstream_gene_variant,,ENST00000529778,;	A	ENST00000609360	Transcript	synonymous_variant	1198/2642	1098/2133	366/710	G	ggG/ggT		1		-1	APBB1	HGNC	HGNC:581	protein_coding	YES	CCDS66018.1	ENSP00000477213	O00213		UPI000012510B	NM_001164.4			6/15		Gene3D:2.30.29.30,hmmpanther:PTHR14058,hmmpanther:PTHR14058:SF5,SMART_domains:SM00462,Superfamily_domains:SSF50729																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	62	6403151	6403151	C	A	1	0	0	0	0	0	0	0	1	879	842	30	2		2	APBB1	11	6403151	Silent	SNP	C	C3N-00580_TP	614401	6403151	128683471	620	20080											
DCHS1	0	.	GRCh38	chr11	6641145	6641145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtagcgggtgccaaaagCtgtatgctcaggtacctgca	9	9	14	9	1	1	0	1	0	0	0	1	0	1	0	2	3	6	6	2	3	5	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.469G>T	p.Ala157Ser	p.A157S	ENST00000299441	2/21	415	327	88	352	352	0	strelka-varscan-mutect	DCHS1,missense_variant,p.Ala157Ser,ENST00000299441,NM_003737.3;	A	ENST00000299441	Transcript	missense_variant	881/10765	469/9897	157/3298	A/S	Gct/Tct		1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3	tolerated(0.22)		2/21		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	6641145	6641145	C	A	1	0	0	0	0	1	0	0	0	4090	797	28	2		2	DCHS1	11	6641145	Missense_Mutation	SNP	C	C3N-00580_TP	237994	6641145	128445477	621	20081											
OR10A5	0	.	GRCh38	chr11	6845830	6845831	+	Frame_Shift_Del	DEL	AC	AC	-																															acagcctcatcattctggttAccctagctgaccccatgcta																								novel		C3N-00580_TP	C3N-00580_NB	AC	AC																c.148_149delAC	p.Thr50ProfsTer3	p.T50Pfs*3	ENST00000299454	1/1	497	382	115	631	631	0	sindel-varindel	OR10A5,frameshift_variant,p.Thr50ProfsTer3,ENST00000299454,NM_178168.1;RP11-413N10.3,intron_variant,,ENST00000637205,;RP11-560B16.5,upstream_gene_variant,,ENST00000530632,;	-	ENST00000299454	Transcript	frameshift_variant	179-180/1054	148-149/954	50/317	T/X	ACc/c		1		1	OR10A5	HGNC	HGNC:15131	protein_coding	YES	CCDS7773.1	ENSP00000299454	Q9H207	A0A126GWR0	UPI000004C155	NM_178168.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	HIGH	1	deletion				1										PASS		.	.												-	7	5	62	6845830	6845830	AC	-	1	0	1	0	1	0	0	0	0	10969	391	14	0		0	OR10A5	11	6845830	Frame_Shift_Del	DEL	AC	C3N-00580_TP	204685	6845830	128240792	622	20082	424	3									
OR10A5	0	.	GRCh38	chr11	6845832	6845832	+	Silent	SNP	C	C	T																															agcctcatcattctggttacCctagctgaccccatgctaca																										C3N-00580_TP	C3N-00580_NB	C	C																c.150C>T	p.=	p.T50T	ENST00000299454	1/1	539	420	119	623	622	1	strelka-mutect	OR10A5,synonymous_variant,p.=,ENST00000299454,NM_178168.1;RP11-413N10.3,intron_variant,,ENST00000637205,;RP11-560B16.5,upstream_gene_variant,,ENST00000530632,;	T	ENST00000299454	Transcript	synonymous_variant	181/1054	150/954	50/317	T	acC/acT	COSM386353	1		1	OR10A5	HGNC	HGNC:15131	protein_coding	YES	CCDS7773.1	ENSP00000299454	Q9H207	A0A126GWR0	UPI000004C155	NM_178168.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						LOW	1	SNV			1	1										PASS		rs1366704269	.												T	2	4	62	6845832	6845832	C	T	1	0	0	0	0	0	0	0	1	10969	610	22	3		3	OR10A5	11	6845832	Silent	SNP	C	C3N-00580_TP	2	6845832	128240790	623	20083	424	3									
OR10A5	0	.	GRCh38	chr11	6845833	6845833	+	Silent	SNP	C	C	T																															gcctcatcattctggttaccCtagctgaccccatgctacac																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.151C>T	p.=	p.L51L	ENST00000299454	1/1	544	424	120	624	624	0	strelka-varscan-mutect	OR10A5,synonymous_variant,p.=,ENST00000299454,NM_178168.1;RP11-413N10.3,intron_variant,,ENST00000637205,;RP11-560B16.5,upstream_gene_variant,,ENST00000530632,;	T	ENST00000299454	Transcript	synonymous_variant	182/1054	151/954	51/317	L	Cta/Tta		1		1	OR10A5	HGNC	HGNC:15131	protein_coding	YES	CCDS7773.1	ENSP00000299454	Q9H207	A0A126GWR0	UPI000004C155	NM_178168.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												T	2	4	62	6845833	6845833	C	T	1	0	0	0	0	0	0	0	1	10969	680	24	3		3	OR10A5	11	6845833	Silent	SNP	C	C3N-00580_TP	1	6845833	128240789	624	20084	424	3									
OR10A5	0	.	GRCh38	chr11	6846463	6846463	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcttctagcctcacctacTtctggcctaaatcaaataat	12	14	3	12	0	5	0	2	0	3	0	5	0	5	0	3	1	2	0	3	1	7	7			C3N-00580_TP	C3N-00580_NB	T	T																c.781T>G	p.Phe261Val	p.F261V	ENST00000299454	1/1	182	172	10	196	196	0	strelka-varscan-mutect	OR10A5,missense_variant,p.Phe261Val,ENST00000299454,NM_178168.1;RP11-413N10.3,intron_variant,,ENST00000637205,;RP11-560B16.5,upstream_gene_variant,,ENST00000530632,;	G	ENST00000299454	Transcript	missense_variant	812/1054	781/954	261/317	F/V	Ttc/Gtc	COSM1259969	1		1	OR10A5	HGNC	HGNC:15131	protein_coding	YES	CCDS7773.1	ENSP00000299454	Q9H207	A0A126GWR0	UPI000004C155	NM_178168.1	deleterious(0.04)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												G	3	3	62	6846463	6846463	T	G	1	0	0	0	0	1	0	0	0	10969	1609	56	5		5	OR10A5	11	6846463	Missense_Mutation	SNP	T	C3N-00580_TP	630	6846463	128240159	625	20085											
OR10A3	0	.	GRCh38	chr11	7938973	7938973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacacaagctctagtaccGggggagtctcacagaagaga	14	5	11	11	1	2	2	1	0	2	2	3	4	2	3	1	2	2	2	1	2	4	2	rs200724726		C3N-00580_TP	C3N-00580_NB	G	G																c.548C>A	p.Pro183Gln	p.P183Q	ENST00000360759	1/1	167	150	17	180	180	0	strelka-varscan-mutect	OR10A3,missense_variant,p.Pro183Gln,ENST00000360759,NM_001003745.1;	T	ENST00000360759	Transcript	missense_variant	622/1061	548/945	183/314	P/Q	cCg/cAg	rs200724726	1		-1	OR10A3	HGNC	HGNC:8162	protein_coding	YES	CCDS31421.1	ENSP00000353988	P58181	A0A126GVZ2	UPI00000015AD	NM_001003745.1	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF30,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs200724726	.												T	3	4	62	7938973	7938973	G	T	1	0	0	0	0	1	0	0	0	10967	1116	39	1		1	OR10A3	11	7938973	Missense_Mutation	SNP	G	C3N-00580_TP	1092510	7938973	127147649	626	20086											
TMEM41B	0	.	GRCh38	chr11	9286514	9286514	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatcacaggagatgtgataTtaataaaccaattaggcaga	17	11	8	5	0	1	3	1	1	0	2	1	4	1	3	1	2	1	1	1	2	7	5	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.647A>G	p.Asn216Ser	p.N216S	ENST00000528080	6/7	91	64	27	115	115	0	strelka-varscan-mutect	TMEM41B,missense_variant,p.Asn216Ser,ENST00000528080,NM_015012.3;TMEM41B,missense_variant,p.Asn216Ser,ENST00000611268,;TMEM41B,intron_variant,,ENST00000527813,;TMEM41B,missense_variant,p.Asn216Ser,ENST00000299596,;TMEM41B,3_prime_UTR_variant,,ENST00000524543,;TMEM41B,non_coding_transcript_exon_variant,,ENST00000533867,;	C	ENST00000528080	Transcript	missense_variant	986/3968	647/876	216/291	N/S	aAt/aGt		1		-1	TMEM41B	HGNC	HGNC:28948	protein_coding	YES	CCDS31424.1	ENSP00000433126	Q5BJD5		UPI00001C1EF6	NM_015012.3	deleterious(0)		6/7		Pfam_domain:PF09335,hmmpanther:PTHR12677,hmmpanther:PTHR12677:SF15,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	9286514	9286514	T	C	1	0	0	0	0	1	0	0	0	16642	1493	52	5		5	TMEM41B	11	9286514	Missense_Mutation	SNP	T	C3N-00580_TP	1347541	9286514	125800108	627	20087											
CALCB	0	.	GRCh38	chr11	15075067	15075067	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcccttccacaggtctgcCctggagagcagcccagaccc	7	7	9	18	0	1	2	0	0	1	2	3	3	3	2	5	2	3	1	5	2	0	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.93C>A	p.=	p.A31A	ENST00000533448	3/5	252	201	51	275	275	0	strelka-varscan-mutect	CALCB,synonymous_variant,p.=,ENST00000523376,;CALCB,synonymous_variant,p.=,ENST00000533448,;CALCB,synonymous_variant,p.=,ENST00000324229,NM_000728.3;	A	ENST00000533448	Transcript	synonymous_variant	204/2097	93/384	31/127	A	gcC/gcA		1		1	CALCB	HGNC	HGNC:1438	protein_coding	YES	CCDS7820.1	ENSP00000433490	P10092		UPI0000126E36				3/5		Pfam_domain:PF00214,hmmpanther:PTHR10505,hmmpanther:PTHR10505:SF12																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	62	15075067	15075067	C	A	1	0	0	0	0	0	0	0	1	2266	610	22	2		2	CALCB	11	15075067	Silent	SNP	C	C3N-00580_TP	5788553	15075067	120011555	628	20088											
INSC	0	.	GRCh38	chr11	15221624	15221624	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtagcttcctggagagcatgGaggagatcgtgacagccctc	9	8	14	10	1	0	3	0	1	0	2	3	6	1	4	2	3	3	3	2	3	1	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1108G>T	p.Glu370Ter	p.E370*	ENST00000379554	8/13	133	88	45	142	142	0	strelka-varscan-mutect	INSC,stop_gained,p.Glu370Ter,ENST00000379554,NM_001031853.4;INSC,stop_gained,p.Glu357Ter,ENST00000424273,NM_001278314.1;INSC,stop_gained,p.Glu323Ter,ENST00000379556,NM_001042536.2;INSC,stop_gained,p.Glu323Ter,ENST00000528567,NM_001278315.1;INSC,stop_gained,p.Glu323Ter,ENST00000530161,NM_001278313.1;INSC,stop_gained,p.Glu281Ter,ENST00000525218,NM_001278316.1;INSC,non_coding_transcript_exon_variant,,ENST00000447214,;	T	ENST00000379554	Transcript	stop_gained	1154/2954	1108/1740	370/579	E/*	Gag/Tag		1		1	INSC	HGNC	HGNC:33116	protein_coding	YES	CCDS41621.1	ENSP00000368872	Q1MX18		UPI0000D63F1D	NM_001031853.4			8/13		hmmpanther:PTHR21386:SF0,hmmpanther:PTHR21386,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	62	15221624	15221624	G	T	1	0	0	0	0	0	1	0	0	7666	1175	41	2		2	INSC	11	15221624	Nonsense_Mutation	SNP	G	C3N-00580_TP	146557	15221624	119864998	629	20089											
USH1C	0	.	GRCh38	chr11	17505933	17505933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcctcgtggaggctgtGggcttgggcaaaatgtctaa	8	9	16	8	1	1	0	0	0	1	0	2	1	1	1	1	5	0	3	1	5	3	2	rs749424126		C3N-00580_TP	C3N-00580_NB	G	G																c.2030C>A	p.Pro677Gln	p.P677Q	ENST00000005226	19/27	490	346	144	560	560	0	strelka-varscan-mutect	USH1C,missense_variant,p.Pro677Gln,ENST00000005226,NM_153676.3;USH1C,intron_variant,,ENST00000527720,;USH1C,intron_variant,,ENST00000318024,NM_005709.3;USH1C,intron_variant,,ENST00000527020,NM_001297764.1;USH1C,intron_variant,,ENST00000529563,;USH1C,intron_variant,,ENST00000526313,;USH1C,upstream_gene_variant,,ENST00000534556,;	T	ENST00000005226	Transcript	missense_variant	2030/2700	2030/2700	677/899	P/Q	cCa/cAa	rs749424126	1		-1	USH1C	HGNC	HGNC:12597	protein_coding	YES	CCDS7825.1	ENSP00000005226	Q9Y6N9		UPI00001D965A	NM_153676.3	deleterious_low_confidence(0)		19/27		hmmpanther:PTHR23116,hmmpanther:PTHR23116:SF36																	MODERATE	1	SNV	5			1										PASS		rs749424126	.												T	3	4	62	17505933	17505933	G	T	1	0	0	0	0	1	0	0	0	17568	1348	47	2		2	USH1C	11	17505933	Missense_Mutation	SNP	G	C3N-00580_TP	2284309	17505933	117580689	630	20090											
OTOG	0	.	GRCh38	chr11	17633769	17633769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatgggatactagggcctCtggacccagagcactgccag	10	6	14	11	0	1	1	0	0	1	1	1	4	1	4	3	4	3	1	3	4	2	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.7198C>G	p.Leu2400Val	p.L2400V	ENST00000399391	42/55	169	120	49	184	184	0	strelka-varscan-mutect	OTOG,missense_variant,p.Leu2388Val,ENST00000399397,NM_001292063.1;OTOG,missense_variant,p.Leu2400Val,ENST00000399391,NM_001277269.1;OTOG,missense_variant,p.Leu1406Val,ENST00000342528,;	G	ENST00000399391	Transcript	missense_variant	7198/8778	7198/8778	2400/2925	L/V	Ctg/Gtg		1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1	tolerated(0.13)		42/55		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228,Gene3D:2.10.25.10,Superfamily_domains:SSF57567																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	62	17633769	17633769	C	G	1	0	0	0	0	1	0	0	0	11370	912	32	4		4	OTOG	11	17633769	Missense_Mutation	SNP	C	C3N-00580_TP	127836	17633769	117452853	631	20091											
HPS5	0	.	GRCh38	chr11	18283795	18283795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagttaggattgacatacCattgtccccttccatcaggc	10	11	7	13	0	1	1	1	1	0	0	3	2	3	2	5	2	1	1	5	2	2	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.3058G>T	p.Gly1020Cys	p.G1020C	ENST00000349215	21/23	295	215	80	351	351	0	strelka-varscan-mutect	HPS5,missense_variant,p.Gly906Cys,ENST00000396253,NM_007216.3;HPS5,missense_variant,p.Gly1020Cys,ENST00000349215,NM_181507.1;HPS5,missense_variant,p.Gly906Cys,ENST00000438420,NM_181508.1;HPS5,missense_variant,p.Gly127Cys,ENST00000537258,;HPS5,downstream_gene_variant,,ENST00000544218,;HPS5,splice_region_variant,,ENST00000352460,;HPS5,downstream_gene_variant,,ENST00000543728,;HPS5,non_coding_transcript_exon_variant,,ENST00000545561,;	A	ENST00000349215	Transcript	missense_variant,splice_region_variant	3336/4491	3058/3390	1020/1129	G/C	Ggt/Tgt		1		-1	HPS5	HGNC	HGNC:17022	protein_coding	YES	CCDS7836.1	ENSP00000265967	Q9UPZ3		UPI000000D7E9	NM_181507.1	deleterious(0)		21/23		hmmpanther:PTHR23287																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	18283795	18283795	C	A	1	0	0	0	0	1	0	0	0	7237	608	21	2		2	HPS5	11	18283795	Missense_Mutation	SNP	C	C3N-00580_TP	650026	18283795	116802827	632	20092											
MRGPRX2	0	.	GRCh38	chr11	19055677	19055677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccataatattaggaaccaCtgaatgccaaagggcaggcc	15	7	9	10	0	0	1	0	1	0	0	1	2	1	2	4	3	2	1	4	3	6	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.726G>T	p.Gln242His	p.Q242H	ENST00000329773	2/2	238	215	23	199	198	1	strelka-varscan-mutect	MRGPRX2,missense_variant,p.Gln242His,ENST00000329773,NM_001303615.1,NM_054030.3;	A	ENST00000329773	Transcript	missense_variant	814/2036	726/993	242/330	Q/H	caG/caT		1		-1	MRGPRX2	HGNC	HGNC:17983	protein_coding	YES	CCDS7847.1	ENSP00000333800	Q96LB1		UPI0000038C81	NM_001303615.1,NM_054030.3	tolerated(0.61)		2/2		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF35,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	19055677	19055677	C	A	1	0	0	0	0	1	0	0	0	9734	564	20	2		2	MRGPRX2	11	19055677	Missense_Mutation	SNP	C	C3N-00580_TP	771882	19055677	116030945	633	20093											
DBX1	0	.	GRCh38	chr11	20156484	20156484	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggattgagcttggtgggcagGgtctgctcgcgacagccccc	5	8	16	12	2	1	1	0	1	1	0	2	3	1	2	2	4	3	3	2	4	0	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.762C>A	p.=	p.T254T	ENST00000524983	4/4	521	416	105	483	483	0	strelka-varscan-mutect	DBX1,synonymous_variant,p.=,ENST00000524983,NM_001029865.2;	T	ENST00000524983	Transcript	synonymous_variant	1051/1380	762/1032	254/343	T	acC/acA		1		-1	DBX1	HGNC	HGNC:33185	protein_coding	YES		ENSP00000436881	A6NMT0		UPI000013C8B1	NM_001029865.2			4/4		hmmpanther:PTHR24331,hmmpanther:PTHR24331:SF6																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	62	20156484	20156484	G	T	1	0	0	0	0	0	0	0	1	4059	1219	43	2		2	DBX1	11	20156484	Silent	SNP	G	C3N-00580_TP	1100807	20156484	114930138	634	20094											
SLC6A5	0	.	GRCh38	chr11	20628074	20628074	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacaacaaattccacaacaActgctacaggtatgtagagg	16	9	7	9	0	0	1	0	0	0	1	1	1	1	1	1	2	6	3	1	2	8	5	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1490A>C	p.Asn497Thr	p.N497T	ENST00000525748	9/16	546	491	55	542	541	1	strelka-varscan-mutect	SLC6A5,missense_variant,p.Asn497Thr,ENST00000525748,NM_004211.3;SLC6A5,upstream_gene_variant,,ENST00000528440,;SLC6A5,3_prime_UTR_variant,,ENST00000298923,;	C	ENST00000525748	Transcript	missense_variant	1763/7084	1490/2394	497/797	N/T	aAc/aCc		1		1	SLC6A5	HGNC	HGNC:11051	protein_coding	YES	CCDS7854.1	ENSP00000434364	Q9Y345		UPI00004564A5	NM_004211.3	deleterious(0)		9/16		Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF158																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	20628074	20628074	A	C	1	0	0	0	0	1	0	0	0	14970	43	2	5		5	SLC6A5	11	20628074	Missense_Mutation	SNP	A	C3N-00580_TP	471590	20628074	114458548	635	20095											
NELL1	0	.	GRCh38	chr11	20928455	20928455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccagtgcacattgctGgccagtgctgtaaggtctgc	6	10	11	14	0	1	0	0	0	1	0	2	0	2	0	3	2	4	4	3	2	1	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1057G>T	p.Gly353Cys	p.G353C	ENST00000298925	10/21	452	349	103	503	502	1	strelka-varscan-mutect	NELL1,missense_variant,p.Gly353Cys,ENST00000298925,NM_001288713.1;NELL1,missense_variant,p.Gly268Cys,ENST00000325319,NM_001288714.1;NELL1,missense_variant,p.Gly325Cys,ENST00000357134,NM_006157.4;NELL1,missense_variant,p.Gly325Cys,ENST00000532434,NM_201551.2;NELL1,downstream_gene_variant,,ENST00000528495,;	T	ENST00000298925	Transcript	missense_variant	1210/3329	1057/2517	353/838	G/C	Ggc/Tgc		1		1	NELL1	HGNC	HGNC:7750	protein_coding	YES	CCDS73267.1	ENSP00000298925		J3KNC5	UPI0000228C6F	NM_001288713.1	deleterious(0)		10/21		Pfam_domain:PF00093,PROSITE_patterns:PS01208,PROSITE_profiles:PS50184,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	62	20928455	20928455	G	T	1	0	0	0	0	1	0	0	0	10364	1348	47	2		2	NELL1	11	20928455	Missense_Mutation	SNP	G	C3N-00580_TP	300381	20928455	114158167	636	20096											
NELL1	0	.	GRCh38	chr11	21370894	21370894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatacggtggaacgtgtgtgGctcccaacaaatgtgtctgt	9	11	13	8	2	1	0	0	0	1	0	2	2	2	1	1	3	3	1	1	3	4	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1675G>T	p.Ala559Ser	p.A559S	ENST00000298925	16/21	208	135	73	195	194	1	strelka-varscan-mutect	NELL1,missense_variant,p.Ala559Ser,ENST00000298925,NM_001288713.1;NELL1,missense_variant,p.Ala474Ser,ENST00000325319,NM_001288714.1;NELL1,missense_variant,p.Ala531Ser,ENST00000357134,NM_006157.4;NELL1,missense_variant,p.Ala531Ser,ENST00000532434,NM_201551.2;NELL1,non_coding_transcript_exon_variant,,ENST00000529218,;NELL1,non_coding_transcript_exon_variant,,ENST00000534263,;	T	ENST00000298925	Transcript	missense_variant	1828/3329	1675/2517	559/838	A/S	Gct/Tct		1		1	NELL1	HGNC	HGNC:7750	protein_coding	YES	CCDS73267.1	ENSP00000298925		J3KNC5	UPI0000228C6F	NM_001288713.1	tolerated(0.45)		16/21		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	2			1										PASS		rs986560571	.												T	3	4	62	21370894	21370894	G	T	1	0	0	0	0	1	0	0	0	10364	1203	42	2		2	NELL1	11	21370894	Missense_Mutation	SNP	G	C3N-00580_TP	442439	21370894	113715728	637	20097											
FANCF	0	.	GRCh38	chr11	22625445	22625445	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgtctcctcatcggcgtcCcggacgcccgggccgggaaa	6	6	14	15	6	2	0	1	0	1	0	5	2	3	2	4	4	0	0	4	4	1	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.366G>A	p.=	p.R122R	ENST00000327470	1/1	483	326	157	526	526	0	strelka-varscan-mutect	FANCF,synonymous_variant,p.=,ENST00000327470,NM_022725.3;GAS2,upstream_gene_variant,,ENST00000528582,;	T	ENST00000327470	Transcript	synonymous_variant	1343/4269	366/1125	122/374	R	cgG/cgA		1		-1	FANCF	HGNC	HGNC:3587	protein_coding	YES	CCDS7857.1	ENSP00000330875	Q9NPI8	A3KME0	UPI000012A4CA	NM_022725.3			1/1		hmmpanther:PTHR14449:SF2,hmmpanther:PTHR14449,Pfam_domain:PF11107,PD321645																	LOW	1	SNV				1										PASS		.	.												T	2	4	62	22625445	22625445	C	T	1	0	0	0	0	0	0	0	1	5527	610	22	3		3	FANCF	11	22625445	Silent	SNP	C	C3N-00580_TP	1254551	22625445	112461177	638	20098											
SLC5A12	0	.	GRCh38	chr11	26678799	26678799	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaggagatcgagtaccaggTatcagctattccaggtctgt	10	11	12	8	1	2	1	1	0	1	1	4	3	3	1	2	3	2	4	2	3	4	5	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1492A>G	p.Thr498Ala	p.T498A	ENST00000396005	13/15	143	129	14	102	102	0	strelka-varscan-mutect	SLC5A12,missense_variant,p.Thr498Ala,ENST00000396005,NM_178498.3;SLC5A12,3_prime_UTR_variant,,ENST00000527405,;	C	ENST00000396005	Transcript	missense_variant	1802/6250	1492/1857	498/618	T/A	Acc/Gcc		1		-1	SLC5A12	HGNC	HGNC:28750	protein_coding	YES	CCDS7860.2	ENSP00000379326	Q1EHB4		UPI000003ED2C	NM_178498.3	tolerated(0.09)		13/15		hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF152																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	26678799	26678799	T	C	1	0	0	0	0	1	0	0	0	14947	1638	57	5		5	SLC5A12	11	26678799	Missense_Mutation	SNP	T	C3N-00580_TP	4053354	26678799	108407823	639	20099											
DCDC1	0	.	GRCh38	chr11	30878593	30878593	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgataggagttaattgtgGagatgtgccagagacagcag	12	10	14	5	0	1	3	0	1	1	2	1	6	1	4	1	2	2	2	1	2	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2664C>A	p.=	p.L888L	ENST00000406071	19/20	123	104	19	123	123	0	strelka-varscan-mutect	DCDC1,synonymous_variant,p.=,ENST00000597505,;DCDC1,synonymous_variant,p.=,ENST00000406071,NM_020869.3;DCDC1,synonymous_variant,p.=,ENST00000444572,;DCDC1,3_prime_UTR_variant,,ENST00000303697,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;	T	ENST00000406071	Transcript	synonymous_variant	2980/4758	2664/2673	888/890	L	ctC/ctA		1		-1	DCDC1	HGNC	HGNC:20625	protein_coding	YES	CCDS73270.1	ENSP00000385936		B6ZDN3	UPI0001FB41A5	NM_020869.3			19/20																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	62	30878593	30878593	G	T	1	0	0	0	0	0	0	0	1	4086	1161	41	2		2	DCDC1	11	30878593	Silent	SNP	G	C3N-00580_TP	4199794	30878593	104208029	640	20100											
ELP4	0	.	GRCh38	chr11	31520055	31520055	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggttttgtttcatttccaGgtggaggtttagccgttgga	5	17	13	6	1	1	0	1	0	0	0	2	2	2	2	2	5	1	4	2	5	1	7	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.224-1G>T		p.X75_splice	ENST00000395934		123	104	19	158	157	1	strelka-varscan-mutect	ELP4,splice_acceptor_variant,,ENST00000395934,NM_001288726.1;ELP4,splice_acceptor_variant,,ENST00000350638,NM_019040.4;ELP4,splice_acceptor_variant,,ENST00000379163,NM_001288725.1;ELP4,splice_acceptor_variant,,ENST00000474374,;	T	ENST00000395934	Transcript	splice_acceptor_variant	-/1961	224/1608	75/535				1		1	ELP4	HGNC	HGNC:1171	protein_coding	YES	CCDS73272.1	ENSP00000379267		G5E9D4	UPI000013FA14	NM_001288726.1				1/11																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	62	31520055	31520055	G	T	1	0	0	0	0	0	0	1	0	4916	1014	35	2		2	ELP4	11	31520055	Splice_Site	SNP	G	C3N-00580_TP	641462	31520055	103566567	641	20101											
PAMR1	0	.	GRCh38	chr11	35435955	35435955	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcccagtcctcagacatgtCctcctgctgctgcccaggcg	5	10	9	17	1	1	1	1	0	0	1	5	1	5	1	5	1	3	2	5	1	0	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1332G>A	p.=	p.R444R	ENST00000622144	10/12	421	267	154	238	238	0	strelka-varscan-mutect	PAMR1,synonymous_variant,p.=,ENST00000619888,NM_001001991.2;PAMR1,synonymous_variant,p.=,ENST00000621476,NM_001282675.1;PAMR1,synonymous_variant,p.=,ENST00000615849,NM_001282676.1;PAMR1,synonymous_variant,p.=,ENST00000622144,NM_015430.3;PAMR1,synonymous_variant,p.=,ENST00000611014,;PAMR1,synonymous_variant,p.=,ENST00000527605,;PAMR1,non_coding_transcript_exon_variant,,ENST00000531219,;	T	ENST00000622144	Transcript	synonymous_variant	1370/2785	1332/2214	444/737	R	agG/agA		1		-1	PAMR1	HGNC	HGNC:24554	protein_coding	YES	CCDS7898.1	ENSP00000482899	Q6UXH9		UPI000013DB70	NM_015430.3			10/12		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR24254,hmmpanther:PTHR24254:SF9,SMART_domains:SM00032,Superfamily_domains:SSF50494																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	35435955	35435955	C	T	1	0	0	0	0	0	0	0	1	11494	854	30	3		3	PAMR1	11	35435955	Silent	SNP	C	C3N-00580_TP	3915900	35435955	99650667	642	20102											
RAG1	0	.	GRCh38	chr11	36573960	36573960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctgcaacactgcccgtcGgggactcaagaggaagagtc	11	6	12	12	2	2	2	1	0	1	2	4	4	2	4	1	3	3	1	1	3	3	0	rs764179803		C3N-00580_TP	C3N-00580_NB	G	G																c.656G>T	p.Arg219Leu	p.R219L	ENST00000299440	2/2	461	352	109	262	261	1	strelka-varscan-mutect	RAG1,missense_variant,p.Arg219Leu,ENST00000299440,NM_000448.2;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,missense_variant,p.Arg219Leu,ENST00000534663,;	T	ENST00000299440	Transcript	missense_variant	768/6564	656/3132	219/1043	R/L	cGg/cTg	rs764179803	1		1	RAG1	HGNC	HGNC:9831	protein_coding	YES	CCDS7902.1	ENSP00000299440	P15918		UPI000013E5A0	NM_000448.2	tolerated_low_confidence(0.16)		2/2		Pfam_domain:PF12560,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0																	MODERATE	1	SNV	1			1										PASS		rs764179803	.												T	3	4	62	36573960	36573960	G	T	1	0	0	0	0	1	0	0	0	13164	1116	39	1		1	RAG1	11	36573960	Missense_Mutation	SNP	G	C3N-00580_TP	1138005	36573960	98512662	643	20103											
CREB3L1	0	.	GRCh38	chr11	46320397	46320397	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccggcagagcagcggccccgGgaccacctgcagcatgatca	9	3	13	16	3	1	2	1	1	0	1	1	3	1	3	5	3	4	4	5	3	0	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1392G>T	p.=	p.R464R	ENST00000621158	11/12	455	258	197	372	372	0	strelka-varscan-mutect	CREB3L1,synonymous_variant,p.=,ENST00000621158,NM_052854.3;CREB3L1,downstream_gene_variant,,ENST00000534616,;CREB3L1,non_coding_transcript_exon_variant,,ENST00000616094,;	T	ENST00000621158	Transcript	synonymous_variant	1843/2687	1392/1560	464/519	R	cgG/cgT		1		1	CREB3L1	HGNC	HGNC:18856	protein_coding	YES	CCDS53620.1	ENSP00000481956	Q96BA8		UPI000004ABFF	NM_052854.3			11/12		hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF24																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	46320397	46320397	G	T	1	0	0	0	0	0	0	0	1	3656	1219	43	2		2	CREB3L1	11	46320397	Silent	SNP	G	C3N-00580_TP	9746437	46320397	88766225	644	20104											
CKAP5	0	.	GRCh38	chr11	46809489	46809489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgtggcacctcatcacCatcatcaccacctttaagga	11	12	5	13	0	4	0	4	0	0	0	4	1	4	1	4	2	0	1	4	2	2	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.775G>T	p.Gly259Cys	p.G259C	ENST00000529230	7/44	195	128	67	157	157	0	strelka-varscan-mutect	CKAP5,missense_variant,p.Gly259Cys,ENST00000529230,NM_001008938.3;CKAP5,missense_variant,p.Gly259Cys,ENST00000312055,NM_014756.3;CKAP5,missense_variant,p.Gly259Cys,ENST00000354558,;	A	ENST00000529230	Transcript	missense_variant	822/7121	775/6099	259/2032	G/C	Ggt/Tgt		1		-1	CKAP5	HGNC	HGNC:28959	protein_coding	YES	CCDS31477.1	ENSP00000432768	Q14008		UPI000013F21E	NM_001008938.3	deleterious(0.02)		7/44		Low_complexity_(Seg):seg,hmmpanther:PTHR12609:SF0,hmmpanther:PTHR12609																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	46809489	46809489	C	A	1	0	0	0	0	1	0	0	0	3208	594	21	2		2	CKAP5	11	46809489	Missense_Mutation	SNP	C	C3N-00580_TP	489092	46809489	88277133	645	20105											
NUP160	0	.	GRCh38	chr11	47788305	47788305	+	Missense_Mutation	SNP	C	C	G																															tttcctctgctgatgaacttCctgtgaaaatggaaaaagat																								rs778906058		C3N-00580_TP	C3N-00580_NB	C	C																c.3623G>C	p.Gly1208Ala	p.G1208A	ENST00000378460	31/36	263	248	15	186	186	0	strelka-varscan-mutect	NUP160,missense_variant,p.Gly1208Ala,ENST00000378460,NM_015231.1;NUP160,missense_variant,p.Gly1173Ala,ENST00000530326,;NUP160,downstream_gene_variant,,ENST00000528071,;NUP160,upstream_gene_variant,,ENST00000532773,;	G	ENST00000378460	Transcript	missense_variant,splice_region_variant	3670/5376	3623/4311	1208/1436	G/A	gGa/gCa	rs778906058	1		-1	NUP160	HGNC	HGNC:18017	protein_coding	YES	CCDS31484.1	ENSP00000367721	Q12769		UPI0000185FEB	NM_015231.1	tolerated(0.14)		31/36		Low_complexity_(Seg):seg,hmmpanther:PTHR21286																	MODERATE	1	SNV	1			1										PASS		rs778906058	.												G	3	3	62	47788305	47788305	C	G	1	0	0	0	0	1	0	0	0	10822	869	30	4		4	NUP160	11	47788305	Missense_Mutation	SNP	C	C3N-00580_TP	978816	47788305	87298317	646	20106	425	2									
NUP160	0	.	GRCh38	chr11	47788306	47788306	+	Splice_Site	SNP	C	C	T																															ttcctctgctgatgaacttcCtgtgaaaatggaaaaagatt																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.3623-1G>A		p.X1208_splice	ENST00000378460		260	247	13	184	184	0	strelka-varscan-mutect	NUP160,splice_acceptor_variant,,ENST00000378460,NM_015231.1;NUP160,splice_acceptor_variant,,ENST00000530326,;NUP160,downstream_gene_variant,,ENST00000528071,;NUP160,upstream_gene_variant,,ENST00000532773,;	T	ENST00000378460	Transcript	splice_acceptor_variant	-/5376	3623/4311	1208/1436				1		-1	NUP160	HGNC	HGNC:18017	protein_coding	YES	CCDS31484.1	ENSP00000367721	Q12769		UPI0000185FEB	NM_015231.1				30/35																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	62	47788306	47788306	C	T	1	0	0	0	0	0	0	1	0	10822	695	24	3		3	NUP160	11	47788306	Splice_Site	SNP	C	C3N-00580_TP	1	47788306	87298316	647	20107	425	2									
OR4C3	0	.	GRCh38	chr11	48325776	48325776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccttgttctttgtgccctGtatatttacttatgtgcatc	5	20	7	9	0	1	0	0	0	1	0	2	0	1	0	2	0	4	3	2	0	4	8	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.836G>A	p.Cys279Tyr	p.C279Y	ENST00000319856	1/1	90	65	25	104	103	1	strelka-mutect	OR4C3,missense_variant,p.Cys279Tyr,ENST00000319856,NM_001004702.1;OR4C3,missense_variant,p.Cys142Tyr,ENST00000611380,;	A	ENST00000319856	Transcript	missense_variant	857/1036	836/990	279/329	C/Y	tGt/tAt		1		1	OR4C3	HGNC	HGNC:14697	protein_coding	YES	CCDS31489.1	ENSP00000321419	Q8NH37	A0A126GVR6	UPI0000061EA2	NM_001004702.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF162,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1325223004	.												A	3	1	62	48325776	48325776	G	A	1	0	0	0	0	1	0	0	0	11126	1377	48	3		3	OR4C3	11	48325776	Missense_Mutation	SNP	G	C3N-00580_TP	537470	48325776	86760846	648	20108											
OR4C3	0	.	GRCh38	chr11	48325847	48325847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcattattttatggtattCtgacacctatgttgaatcca	10	17	7	7	0	1	2	0	2	1	0	2	2	2	2	2	2	0	3	2	2	5	7	rs774687598		C3N-00580_TP	C3N-00580_NB	C	C																c.907C>G	p.Leu303Val	p.L303V	ENST00000319856	1/1	39	27	12	36	36	0	strelka-varscan-mutect	OR4C3,missense_variant,p.Leu303Val,ENST00000319856,NM_001004702.1;OR4C3,missense_variant,p.Leu166Val,ENST00000611380,;	G	ENST00000319856	Transcript	missense_variant	928/1036	907/990	303/329	L/V	Ctg/Gtg	rs774687598	1		1	OR4C3	HGNC	HGNC:14697	protein_coding	YES	CCDS31489.1	ENSP00000321419	Q8NH37	A0A126GVR6	UPI0000061EA2	NM_001004702.1	tolerated(0.38)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF162,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs774687598	.												G	3	3	62	48325847	48325847	C	G	1	0	0	0	0	1	0	0	0	11126	912	32	4		4	OR4C3	11	48325847	Missense_Mutation	SNP	C	C3N-00580_TP	71	48325847	86760775	649	20109											
OR4A47	0	.	GRCh38	chr11	48489508	48489508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaagccctctcaacctgcaGttcccacatgactgtggttg	10	10	8	13	0	1	1	1	1	1	0	3	1	2	1	3	1	3	3	3	1	3	2			C3N-00580_TP	C3N-00580_NB	G	G																c.716G>T	p.Ser239Ile	p.S239I	ENST00000446524	1/1	451	310	141	316	316	0	strelka-varscan-mutect	OR4A47,missense_variant,p.Ser239Ile,ENST00000446524,NM_001005512.2;OR4R1P,upstream_gene_variant,,ENST00000529879,;OR4A48P,upstream_gene_variant,,ENST00000531359,;	T	ENST00000446524	Transcript	missense_variant	792/1064	716/930	239/309	S/I	aGt/aTt	COSM1719789	1		1	OR4A47	HGNC	HGNC:31266	protein_coding	YES	CCDS31490.1	ENSP00000412752	Q6IF82		UPI00001971E5	NM_001005512.2	tolerated_low_confidence(0.12)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF87,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	62	48489508	48489508	G	T	1	0	0	0	0	1	0	0	0	11119	1029	36	2		2	OR4A47	11	48489508	Missense_Mutation	SNP	G	C3N-00580_TP	163661	48489508	86597114	650	20110											
TRIM64C	0	.	GRCh38	chr11	49058167	49058167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagtccatttcctttataaGtttctcttgcaaaagaagca	13	15	5	8	0	1	1	0	0	1	1	4	1	3	1	2	0	2	3	2	0	6	7	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.418C>G	p.Leu140Val	p.L140V	ENST00000617704	2/6	85	63	22	123	123	0	strelka-varscan-mutect	TRIM64C,missense_variant,p.Leu140Val,ENST00000617704,NM_001206631.1;TRIM64C,missense_variant,p.Leu140Val,ENST00000530230,;	C	ENST00000617704	Transcript	missense_variant	418/1353	418/1353	140/450	L/V	Ctt/Gtt		1		-1	TRIM64C	HGNC	HGNC:37148	protein_coding	YES	CCDS73287.1	ENSP00000481815		A0A087WYH8	UPI00006C1130	NM_001206631.1	tolerated(0.05)		2/6		hmmpanther:PTHR24103:SF354,hmmpanther:PTHR24103																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	62	49058167	49058167	G	C	1	0	0	0	0	1	0	0	0	17033	1043	36	4		4	TRIM64C	11	49058167	Missense_Mutation	SNP	G	C3N-00580_TP	568659	49058167	86028455	651	20111											
OR4C13	0	.	GRCh38	chr11	49953214	49953214	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctccagctactttaccCattgataaagcagttgctgt	11	12	7	11	0	0	2	0	1	0	1	1	2	1	2	3	0	5	4	3	0	4	6			C3N-00580_TP	C3N-00580_NB	C	C																c.792C>A	p.=	p.P264P	ENST00000555099	1/1	177	106	71	128	128	0	strelka-varscan-mutect	OR4C13,synonymous_variant,p.=,ENST00000555099,NM_001001955.2;	A	ENST00000555099	Transcript	synonymous_variant	824/1029	792/930	264/309	P	ccC/ccA	COSM397419	1		1	OR4C13	HGNC	HGNC:15169	protein_coding	YES	CCDS31495.1	ENSP00000452277	Q8NGP0		UPI000013F7D1	NM_001001955.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF60,Superfamily_domains:SSF81321											1						LOW	1	SNV			1	1										PASS		.	.												A	2	1	62	49953214	49953214	C	A	1	0	0	0	0	0	0	0	1	11124	581	21	2		2	OR4C13	11	49953214	Silent	SNP	C	C3N-00580_TP	895047	49953214	85133408	652	20112											
OR5D16	0	.	GRCh38	chr11	55839209	55839209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggttgtattgtatgcatGgggagtcgcatgttccctga	6	14	15	6	1	0	1	0	1	0	0	2	2	1	2	1	4	1	6	1	4	2	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.458G>T	p.Trp153Leu	p.W153L	ENST00000378396	1/1	203	119	84	176	175	1	strelka-varscan-mutect	OR5D16,missense_variant,p.Trp153Leu,ENST00000378396,NM_001005496.1;	T	ENST00000378396	Transcript	missense_variant	458/987	458/987	153/328	W/L	tGg/tTg		1		1	OR5D16	HGNC	HGNC:15283	protein_coding	YES	CCDS31512.1	ENSP00000367649	Q8NGK9		UPI0000046198	NM_001005496.1	deleterious(0.03)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF243,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	62	55839209	55839209	G	T	1	0	0	0	0	1	0	0	0	11226	1357	47	2		2	OR5D16	11	55839209	Missense_Mutation	SNP	G	C3N-00580_TP	5885995	55839209	79247413	653	20113											
OR5W2	0	.	GRCh38	chr11	55913926	55913926	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagactgataggatgatataAcaataagaaatgaaaactcc	21	8	7	5	0	0	5	0	3	0	2	1	6	1	6	1	1	2	0	1	1	9	4	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.657T>C	p.=	p.C219C	ENST00000344514	1/1	304	198	106	213	213	0	strelka-varscan-mutect	OR5W2,synonymous_variant,p.=,ENST00000344514,NM_001001960.1;	G	ENST00000344514	Transcript	synonymous_variant	657/933	657/933	219/310	C	tgT/tgC		1		-1	OR5W2	HGNC	HGNC:15299	protein_coding	YES	CCDS31513.1	ENSP00000342448	Q8NH69		UPI0000061E8D	NM_001001960.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF58,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												G	2	3	62	55913926	55913926	A	G	1	0	0	0	0	0	0	0	1	11253	41	2	5		5	OR5W2	11	55913926	Silent	SNP	A	C3N-00580_TP	74717	55913926	79172696	654	20114											
OR5F1	0	.	GRCh38	chr11	55994213	55994213	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttttaggtagacggtcCtggacatgatcaaggagtaa	12	11	11	7	1	1	2	1	1	0	1	2	4	2	4	2	4	0	2	2	4	4	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.413G>T	p.Arg138Met	p.R138M	ENST00000278409	1/1	198	119	79	200	200	0	strelka-varscan-mutect	OR5F1,missense_variant,p.Arg138Met,ENST00000278409,NM_003697.1;	A	ENST00000278409	Transcript	missense_variant	413/945	413/945	138/314	R/M	aGg/aTg		1		-1	OR5F1	HGNC	HGNC:8343	protein_coding	YES	CCDS31515.1	ENSP00000278409	O95221		UPI0000041D19	NM_003697.1	deleterious(0.02)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF168,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	62	55994213	55994213	C	A	1	0	0	0	0	1	0	0	0	11228	681	24	2		2	OR5F1	11	55994213	Missense_Mutation	SNP	C	C3N-00580_TP	80287	55994213	79092409	655	20115											
OR8H2	0	.	GRCh38	chr11	56105482	56105482	+	Missense_Mutation	SNP	G	G	T																															ctgcctcgctctcatcactgGgccttatgtgattggcttta																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.440G>T	p.Gly147Val	p.G147V	ENST00000313503	1/1	228	153	75	187	187	0	strelka-varscan-mutect	OR8H2,missense_variant,p.Gly146Val,ENST00000618136,;OR8H2,missense_variant,p.Gly147Val,ENST00000313503,NM_001005200.1;	T	ENST00000313503	Transcript	missense_variant	440/939	440/939	147/312	G/V	gGg/gTg		1		1	OR8H2	HGNC	HGNC:15308	protein_coding	YES	CCDS31518.1	ENSP00000323982	Q8N162		UPI0000041D0C	NM_001005200.1	tolerated(0.12)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	62	56105482	56105482	G	T	1	0	0	0	0	1	0	0	0	11306	1232	43	2		2	OR8H2	11	56105482	Missense_Mutation	SNP	G	C3N-00580_TP	111269	56105482	78981140	656	20116	426	2									
OR8H2	0	.	GRCh38	chr11	56105483	56105483	+	Silent	SNP	G	G	T																															tgcctcgctctcatcactggGccttatgtgattggctttat																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.441G>T	p.=	p.G147G	ENST00000313503	1/1	231	157	74	188	188	0	strelka-varscan-mutect	OR8H2,synonymous_variant,p.=,ENST00000618136,;OR8H2,synonymous_variant,p.=,ENST00000313503,NM_001005200.1;	T	ENST00000313503	Transcript	synonymous_variant	441/939	441/939	147/312	G	ggG/ggT		1		1	OR8H2	HGNC	HGNC:15308	protein_coding	YES	CCDS31518.1	ENSP00000323982	Q8N162		UPI0000041D0C	NM_001005200.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	62	56105483	56105483	G	T	1	0	0	0	0	0	0	0	1	11306	1190	42	2		2	OR8H2	11	56105483	Silent	SNP	G	C3N-00580_TP	1	56105483	78981139	657	20117	426	2									
OR5T2	0	.	GRCh38	chr11	56232547	56232547	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatcacaaaagacacgcctAatttcattggctccacagaa	16	9	5	11	1	2	2	2	0	0	2	3	2	3	2	2	1	0	1	2	1	5	4			C3N-00580_TP	C3N-00580_NB	A	A																c.639T>A	p.=	p.I213I	ENST00000313264	1/1	118	91	27	105	105	0	strelka-varscan-mutect	OR5T2,synonymous_variant,p.=,ENST00000313264,NM_001004746.1;	T	ENST00000313264	Transcript	synonymous_variant	639/1080	639/1080	213/359	I	atT/atA	COSM4168396	1		-1	OR5T2	HGNC	HGNC:15296	protein_coding	YES	CCDS31523.1	ENSP00000323688	Q8NGG2		UPI0000061E97	NM_001004746.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF119,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	62	56232547	56232547	A	T	1	0	0	0	0	0	0	0	1	11250	358	13	4		4	OR5T2	11	56232547	Silent	SNP	A	C3N-00580_TP	127064	56232547	78854075	658	20118											
ZFP91	0	.	GRCh38	chr11	58611713	58611713	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaagaggagaatgaaattAgagaggatgaggaacctcca	19	5	13	4	0	0	6	0	2	0	4	1	10	1	8	2	3	1	0	2	3	6	1	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.832A>T	p.Arg278Ter	p.R278*	ENST00000316059	6/11	145	99	46	141	141	0	strelka-varscan-mutect	ZFP91,stop_gained,p.Arg278Ter,ENST00000316059,NM_053023.4,NM_001197051.1;CMB9-55A18.1,non_coding_transcript_exon_variant,,ENST00000601906,;ZFP91-CNTF,stop_gained,p.Arg278Ter,ENST00000389919,;ZFP91-CNTF,stop_gained,p.Arg105Ter,ENST00000422974,;	T	ENST00000316059	Transcript	stop_gained	1003/5220	832/1713	278/570	R/*	Aga/Tga		1		1	ZFP91	HGNC	HGNC:14983	protein_coding	YES	CCDS31553.1	ENSP00000339030	Q96JP5	A0A024R4Z1	UPI0000070D45	NM_053023.4,NM_001197051.1			6/11		Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	62	58611713	58611713	A	T	1	0	0	0	0	0	1	0	0	18232	412	15	4		4	ZFP91	11	58611713	Nonsense_Mutation	SNP	A	C3N-00580_TP	2379166	58611713	76474909	659	20119											
GLYATL2	0	.	GRCh38	chr11	58838289	58838289	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgggtaatgacgatcTggtaatctggccaggcatct	9	9	14	9	2	3	1	0	1	3	0	3	3	3	1	2	5	0	3	2	5	2	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.158A>G	p.Gln53Arg	p.Q53R	ENST00000287275	3/6	186	170	16	164	164	0	strelka-varscan-mutect	GLYATL2,missense_variant,p.Gln53Arg,ENST00000287275,NM_145016.3;GLYATL2,missense_variant,p.Gln53Arg,ENST00000532258,;GLYATL2,non_coding_transcript_exon_variant,,ENST00000533636,;	C	ENST00000287275	Transcript	missense_variant	549/1640	158/885	53/294	Q/R	cAg/cGg		1		-1	GLYATL2	HGNC	HGNC:24178	protein_coding	YES	CCDS41649.1	ENSP00000287275	Q8WU03	A0A024R4Z5	UPI000003FFB7	NM_145016.3	tolerated(0.1)		3/6		hmmpanther:PTHR15298,hmmpanther:PTHR15298:SF4,Pfam_domain:PF06021,Superfamily_domains:SSF55729																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	58838289	58838289	T	C	1	0	0	0	0	1	0	0	0	6359	1580	55	5		5	GLYATL2	11	58838289	Missense_Mutation	SNP	T	C3N-00580_TP	226576	58838289	76248333	660	20120											
MPEG1	0	.	GRCh38	chr11	59211048	59211048	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcactatgacagtattggtGgcagcctgactcatgagggg	9	10	14	8	0	2	3	2	3	0	0	2	3	2	3	1	4	1	2	1	4	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1818C>G	p.=	p.A606A	ENST00000361050	1/1	311	239	72	261	261	0	strelka-varscan-mutect	MPEG1,synonymous_variant,p.=,ENST00000361050,NM_001039396.1;DTX4,downstream_gene_variant,,ENST00000227451,NM_015177.1;RN7SL42P,downstream_gene_variant,,ENST00000579786,;	C	ENST00000361050	Transcript	synonymous_variant	1904/4442	1818/2151	606/716	A	gcC/gcG		1		-1	MPEG1	HGNC	HGNC:29619	protein_coding	YES	CCDS41650.1	ENSP00000354335	Q2M385		UPI0000049D9F	NM_001039396.1			1/1		hmmpanther:PTHR31463,hmmpanther:PTHR31463:SF4																	LOW		SNV				1										PASS		.	.												C	2	2	62	59211048	59211048	G	C	1	0	0	0	0	0	0	0	1	9688	1335	47	4		4	MPEG1	11	59211048	Silent	SNP	G	C3N-00580_TP	372759	59211048	75875574	661	20121											
TMEM132A	0	.	GRCh38	chr11	60930548	60930548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatgtgacagccgcccGcccagcccagcccacactct	7	5	9	20	2	1	1	0	1	1	0	1	1	1	1	5	0	4	2	5	0	0	0	rs538143219		C3N-00580_TP	C3N-00580_NB	G	G																c.905G>T	p.Arg302Leu	p.R302L	ENST00000005286	5/11	137	78	59	151	151	0	strelka-varscan-mutect	TMEM132A,missense_variant,p.Arg302Leu,ENST00000005286,NM_017870.3;TMEM132A,missense_variant,p.Arg302Leu,ENST00000453848,NM_178031.2;TMEM132A,missense_variant,p.Arg40Leu,ENST00000544065,;TMEM132A,upstream_gene_variant,,ENST00000540112,;TMEM132A,upstream_gene_variant,,ENST00000535480,;TMEM132A,upstream_gene_variant,,ENST00000536409,;TMEM132A,downstream_gene_variant,,ENST00000543732,;TMEM132A,upstream_gene_variant,,ENST00000536928,;TMEM132A,downstream_gene_variant,,ENST00000540276,;TMEM132A,downstream_gene_variant,,ENST00000537110,;TMEM132A,downstream_gene_variant,,ENST00000537065,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000544098,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000534983,;TMEM132A,upstream_gene_variant,,ENST00000538090,;	T	ENST00000005286	Transcript	missense_variant	1058/3480	905/3075	302/1024	R/L	cGc/cTc	rs538143219	1		1	TMEM132A	HGNC	HGNC:31092	protein_coding	YES	CCDS7997.1	ENSP00000005286	Q24JP5		UPI0000190977	NM_017870.3	deleterious(0)		5/11		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF9																	MODERATE	1	SNV	5			1										PASS		rs538143219	.												T	3	4	62	60930548	60930548	G	T	1	0	0	0	0	1	0	0	0	16489	1087	38	1		1	TMEM132A	11	60930548	Missense_Mutation	SNP	G	C3N-00580_TP	1719500	60930548	74156074	662	20122											
DAGLA	0	.	GRCh38	chr11	61720695	61720695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtttgtgatcctgtccGtggtgctcttcggcctggtc	3	14	13	11	2	1	1	0	1	1	0	5	1	3	1	3	4	1	2	3	4	0	2	rs777615529		C3N-00580_TP	C3N-00580_NB	G	G																c.112G>T	p.Val38Leu	p.V38L	ENST00000257215	3/20	313	236	77	338	338	0	strelka-varscan-mutect	DAGLA,missense_variant,p.Val38Leu,ENST00000257215,NM_006133.2;DAGLA,missense_variant,p.Val38Leu,ENST00000540717,;	T	ENST00000257215	Transcript	missense_variant	228/5757	112/3129	38/1042	V/L	Gtg/Ttg	rs777615529	1		1	DAGLA	HGNC	HGNC:1165	protein_coding	YES	CCDS31578.1	ENSP00000257215	Q9Y4D2	A0A024R517	UPI00001678B3	NM_006133.2	tolerated(0.14)		3/20		hmmpanther:PTHR21493,hmmpanther:PTHR21493:SF102,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs777615529	.												T	3	4	62	61720695	61720695	G	T	1	0	0	0	0	1	0	0	0	4028	1145	40	1		1	DAGLA	11	61720695	Missense_Mutation	SNP	G	C3N-00580_TP	790147	61720695	73365927	663	20123											
DAGLA	0	.	GRCh38	chr11	61737747	61737747	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttctgggcaaagacctCgtccccaggtgagtccttgg	6	10	14	11	1	1	2	0	1	1	1	4	2	3	2	4	4	0	2	4	4	1	2	rs766345907		C3N-00580_TP	C3N-00580_NB	C	C																c.1575C>A	p.=	p.L525L	ENST00000257215	15/20	246	189	57	248	248	0	strelka-varscan-mutect	DAGLA,synonymous_variant,p.=,ENST00000257215,NM_006133.2;DAGLA,3_prime_UTR_variant,,ENST00000540717,;	A	ENST00000257215	Transcript	synonymous_variant	1691/5757	1575/3129	525/1042	L	ctC/ctA	rs766345907,COSM127774	1		1	DAGLA	HGNC	HGNC:1165	protein_coding	YES	CCDS31578.1	ENSP00000257215	Q9Y4D2	A0A024R517	UPI00001678B3	NM_006133.2			15/20		Gene3D:3.40.50.1820,Pfam_domain:PF01764,hmmpanther:PTHR21493,hmmpanther:PTHR21493:SF102,Superfamily_domains:SSF53474											0,1						LOW	1	SNV	1		0,1	1										PASS		rs766345907	.												A	2	1	62	61737747	61737747	C	A	1	0	0	0	0	0	0	0	1	4028	871	31	1		1	DAGLA	11	61737747	Silent	SNP	C	C3N-00580_TP	17052	61737747	73348875	664	20124											
SCGB1A1	0	.	GRCh38	chr11	62419122	62419122	+	Frame_Shift_Del	DEL	G	G	-																															ctcgctgtcaccctcaccctGgtcacactggctctctgctg																								rs764980269		C3N-00580_TP	C3N-00580_NB	G	G																c.28delG	p.Val10SerfsTer46	p.V10Sfs*46	ENST00000278282	1/3	87	74	13	76	76	0	sindel-varindel-pindel	SCGB1A1,frameshift_variant,p.Val10SerfsTer46,ENST00000278282,NM_003357.4;SCGB1A1,intron_variant,,ENST00000534397,;CTD-2531D15.4,downstream_gene_variant,,ENST00000528983,;	-	ENST00000278282	Transcript	frameshift_variant	88/441	27/276	9/91	L/X	ctG/ct	rs764980269	1		1	SCGB1A1	HGNC	HGNC:12523	protein_coding	YES	CCDS8020.1	ENSP00000278282	P11684	A0A0S2Z4R6	UPI00000369D1	NM_003357.4			1/3		Prints_domain:PR00486,hmmpanther:PTHR10136,hmmpanther:PTHR10136:SF6,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	62	62419122	62419122	G	-	1	0	1	0	1	0	0	0	0	14160	1335	47	0		0	SCGB1A1	11	62419122	Frame_Shift_Del	DEL	G	C3N-00580_TP	681375	62419122	72667500	665	20125											
RPS6KA4	0	.	GRCh38	chr11	64368166	64368166	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccctccattctctttgAccacaacaacgcggtgatga	10	9	8	14	2	1	3	0	3	1	0	3	3	2	3	3	2	2	1	3	2	2	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1106A>T	p.Asp369Val	p.D369V	ENST00000334205	10/17	273	216	57	281	281	0	strelka-mutect	RPS6KA4,missense_variant,p.Asp369Val,ENST00000528057,NM_001300802.1,NM_001006944.1;RPS6KA4,missense_variant,p.Asp369Val,ENST00000334205,NM_001318361.1,NM_003942.2;RPS6KA4,missense_variant,p.Asp353Val,ENST00000530504,;MIR1237,upstream_gene_variant,,ENST00000408346,;RPS6KA4,3_prime_UTR_variant,,ENST00000528355,;RPS6KA4,non_coding_transcript_exon_variant,,ENST00000532885,;	T	ENST00000334205	Transcript	missense_variant	1171/3119	1106/2319	369/772	D/V	gAc/gTc		1		1	RPS6KA4	HGNC	HGNC:10433	protein_coding	YES	CCDS8073.1	ENSP00000333896	O75676		UPI000006F835	NM_001318361.1,NM_003942.2	tolerated(0.1)		10/17		PIRSF_domain:PIRSF000606,PROSITE_profiles:PS51285,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF41																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	64368166	64368166	A	T	1	0	0	0	0	1	0	0	0	13908	275	10	4		4	RPS6KA4	11	64368166	Missense_Mutation	SNP	A	C3N-00580_TP	1949044	64368166	70718456	666	20126											
SYVN1	0	.	GRCh38	chr11	65131320	65131320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagagtgggaaggtgtGcaccttgatcatgatggtca	11	9	15	6	0	2	3	2	2	0	1	2	4	2	4	1	4	1	2	1	4	2	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.712C>T	p.His238Tyr	p.H238Y	ENST00000377190	8/16	408	249	159	456	456	0	strelka-varscan-mutect	SYVN1,missense_variant,p.His238Tyr,ENST00000526060,;SYVN1,missense_variant,p.His238Tyr,ENST00000377190,NM_172230.2;SYVN1,missense_variant,p.His238Tyr,ENST00000294256,NM_032431.2;SYVN1,missense_variant,p.His187Tyr,ENST00000307289,;SYVN1,missense_variant,p.His178Tyr,ENST00000531018,;SYVN1,missense_variant,p.His223Tyr,ENST00000528487,;MRPL49,downstream_gene_variant,,ENST00000279242,NM_004927.3;MRPL49,downstream_gene_variant,,ENST00000531705,;SYVN1,upstream_gene_variant,,ENST00000610479,;SYVN1,non_coding_transcript_exon_variant,,ENST00000526121,;MRPL49,downstream_gene_variant,,ENST00000524482,;SYVN1,upstream_gene_variant,,ENST00000527765,;SYVN1,3_prime_UTR_variant,,ENST00000527142,;SYVN1,3_prime_UTR_variant,,ENST00000532771,;SYVN1,non_coding_transcript_exon_variant,,ENST00000449943,;SYVN1,non_coding_transcript_exon_variant,,ENST00000529207,;MRPL49,downstream_gene_variant,,ENST00000532671,;MRPL49,downstream_gene_variant,,ENST00000526319,;SYVN1,upstream_gene_variant,,ENST00000530451,;SYVN1,downstream_gene_variant,,ENST00000533685,;SYVN1,downstream_gene_variant,,ENST00000525874,;	A	ENST00000377190	Transcript	missense_variant	807/3052	712/1854	238/617	H/Y	Cac/Tac		1		-1	SYVN1	HGNC	HGNC:20738	protein_coding	YES	CCDS31605.1	ENSP00000366395	Q86TM6		UPI000004EE90	NM_172230.2	tolerated(0.56)		8/16		hmmpanther:PTHR22763,hmmpanther:PTHR22763:SF25																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	65131320	65131320	G	A	1	0	0	0	0	1	0	0	0	15881	1319	46	3		3	SYVN1	11	65131320	Missense_Mutation	SNP	G	C3N-00580_TP	763154	65131320	69955302	667	20127											
PPP6R3	0	.	GRCh38	chr11	68601893	68601893	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttaaggagtaattctccAgtggaaatggaaaccagcac	14	10	9	8	0	2	0	0	0	2	0	3	3	2	3	2	3	2	2	2	3	4	4	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.2223A>T	p.=	p.P741P	ENST00000393801	21/25	171	153	18	183	183	0	strelka-varscan-mutect	PPP6R3,synonymous_variant,p.=,ENST00000393800,NM_001164161.1;PPP6R3,synonymous_variant,p.=,ENST00000393801,NM_001164160.1;PPP6R3,synonymous_variant,p.=,ENST00000527403,;PPP6R3,synonymous_variant,p.=,ENST00000265636,NM_018312.4;PPP6R3,synonymous_variant,p.=,ENST00000265637,;PPP6R3,synonymous_variant,p.=,ENST00000524904,NM_001164162.1;PPP6R3,synonymous_variant,p.=,ENST00000529710,NM_001164164.1;PPP6R3,synonymous_variant,p.=,ENST00000534534,;PPP6R3,synonymous_variant,p.=,ENST00000524845,NM_001164163.1;PPP6R3,synonymous_variant,p.=,ENST00000534190,;PPP6R3,synonymous_variant,p.=,ENST00000526593,;PPP6R3,non_coding_transcript_exon_variant,,ENST00000526307,;	T	ENST00000393801	Transcript	synonymous_variant	2438/5069	2223/2640	741/879	P	ccA/ccT		1		1	PPP6R3	HGNC	HGNC:1173	protein_coding	YES	CCDS53671.1	ENSP00000377390	Q5H9R7		UPI0000688150	NM_001164160.1			21/25		hmmpanther:PTHR12634:SF12,hmmpanther:PTHR12634																	LOW	1	SNV	1			1										PASS		rs1273793827	.												T	2	4	62	68601893	68601893	A	T	1	0	0	0	0	0	0	0	1	12536	175	7	4		4	PPP6R3	11	68601893	Silent	SNP	A	C3N-00580_TP	3470573	68601893	66484729	668	20128											
MRGPRF	0	.	GRCh38	chr11	69009675	69009675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaggacaggagggtaggaGggtccagggaacttgtgccc	10	6	18	7	0	0	1	0	1	0	0	1	5	1	5	2	6	2	1	2	6	2	2	rs748006591		C3N-00580_TP	C3N-00580_NB	G	G																c.227C>A	p.Pro76His	p.P76H	ENST00000320913	2/2	98	75	23	102	102	0	strelka-varscan-mutect	MRGPRF,missense_variant,p.Pro76His,ENST00000320913,;MRGPRF,intron_variant,,ENST00000309099,NM_145015.4;MRGPRF,intron_variant,,ENST00000441623,NM_001098515.1;MRGPRF-AS1,upstream_gene_variant,,ENST00000538407,;MRGPRF-AS1,upstream_gene_variant,,ENST00000569432,;MRGPRF-AS1,upstream_gene_variant,,ENST00000569428,;RP11-554A11.5,downstream_gene_variant,,ENST00000562506,;	T	ENST00000320913	Transcript	missense_variant	447/705	227/315	76/104	P/H	cCt/cAt	rs748006591	1		-1	MRGPRF	HGNC	HGNC:24828	protein_coding			ENSP00000323414		F5H5R4	UPI0001EE2DBA				2/2		Low_complexity_(Seg):seg																	MODERATE		SNV	2			1										PASS		rs748006591	.												T	3	4	62	69009675	69009675	G	T	1	0	0	0	0	1	0	0	0	9731	1000	35	2		2	MRGPRF	11	69009675	Missense_Mutation	SNP	G	C3N-00580_TP	407782	69009675	66076947	669	20129											
MYO7A	0	.	GRCh38	chr11	77182089	77182089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccaggggacaaccacgCactcctacacccggcggcca	10	4	9	18	3	0	0	0	0	0	0	2	1	2	1	5	4	2	1	5	4	2	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.3043C>A	p.His1015Asn	p.H1015N	ENST00000409709	24/49	496	324	172	464	464	0	strelka-varscan-mutect	MYO7A,missense_variant,p.His1015Asn,ENST00000409709,NM_000260.3;MYO7A,missense_variant,p.His1015Asn,ENST00000458637,NM_001127180.1;MYO7A,missense_variant,p.His1004Asn,ENST00000409619,;MYO7A,missense_variant,p.His196Asn,ENST00000458169,;MYO7A,missense_variant,p.His1015Asn,ENST00000409893,NM_001127179.2;MYO7A,missense_variant,p.His1015Asn,ENST00000620575,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;MYO7A,upstream_gene_variant,,ENST00000467137,;	A	ENST00000409709	Transcript	missense_variant	3315/7462	3043/6648	1015/2215	H/N	Cac/Aac		1		1	MYO7A	HGNC	HGNC:7606	protein_coding	YES	CCDS53683.1	ENSP00000386331	Q13402		UPI00001FAFE6	NM_000260.3	tolerated(0.1)		24/49																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	77182089	77182089	C	A	1	0	0	0	0	1	0	0	0	10083	710	25	2		2	MYO7A	11	77182089	Missense_Mutation	SNP	C	C3N-00580_TP	8172414	77182089	57904533	670	20130											
TENM4	0	.	GRCh38	chr11	79064963	79064963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtacagggtcccgtgaggggGcgttacttcttccagcccca	6	9	13	13	2	1	1	0	1	1	0	3	1	3	1	4	3	3	2	4	3	2	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.268C>A	p.Pro90Thr	p.P90T	ENST00000278550	6/34	37	32	5	43	43	0	strelka-varscan-mutect	TENM4,missense_variant,p.Pro90Thr,ENST00000278550,NM_001098816.2;TENM4,downstream_gene_variant,,ENST00000527736,;TENM4,downstream_gene_variant,,ENST00000533038,;TENM4,non_coding_transcript_exon_variant,,ENST00000532654,;	T	ENST00000278550	Transcript	missense_variant	731/14000	268/8310	90/2769	P/T	Ccc/Acc		1		-1	TENM4	HGNC	HGNC:29945	protein_coding	YES	CCDS44688.1	ENSP00000278550	Q6N022		UPI0000DD8112	NM_001098816.2	tolerated_low_confidence(0.37)		6/34		Pfam_domain:PF06484,PROSITE_profiles:PS51361,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF9																	MODERATE	1	SNV	5			1										PASS		rs1051681862	.												T	3	4	62	79064963	79064963	G	T	1	0	0	0	0	1	0	0	0	16174	1203	42	2		2	TENM4	11	79064963	Missense_Mutation	SNP	G	C3N-00580_TP	1882874	79064963	56021659	671	20131											
GRM5	0	.	GRCh38	chr11	88984743	88984743	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattaaagctataggagaaAgaaaggtatttatttgaatt	17	15	8	1	0	0	3	0	1	0	2	0	4	0	3	0	2	1	2	0	2	10	9	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.857T>A	p.Leu286His	p.L286H	ENST00000393294	4/4	84	54	30	86	86	0	strelka-varscan-mutect	GRM5,missense_variant,p.Leu286His,ENST00000393294,;GRM5,intron_variant,,ENST00000455756,NM_000842.4;GRM5,intron_variant,,ENST00000305447,NM_001143831.2;GRM5,intron_variant,,ENST00000305432,;GRM5,intron_variant,,ENST00000449371,;	T	ENST00000393294	Transcript	missense_variant	1227/1268	857/897	286/298	L/H	cTt/cAt		1		-1	GRM5	HGNC	HGNC:4597	protein_coding			ENSP00000376972		A8MT20	UPI0000E593A0		tolerated_low_confidence(0.06)		4/4																			MODERATE		SNV	1			1										PASS		.	.												T	3	4	62	88984743	88984743	A	T	1	0	0	0	0	1	0	0	0	6682	72	3	4		4	GRM5	11	88984743	Missense_Mutation	SNP	A	C3N-00580_TP	9919780	88984743	46101879	672	20132											
TRIM77	0	.	GRCh38	chr11	89717725	89717725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacctcactatattccaagGccccaaggctggctaggggt	9	10	10	12	0	1	0	1	0	0	0	2	0	2	0	4	5	1	2	4	5	6	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1206G>T	p.Arg402Ser	p.R402S	ENST00000398290	6/6	215	160	55	202	202	0	strelka-varscan-mutect	TRIM77,missense_variant,p.Arg402Ser,ENST00000398290,NM_001146162.1,NM_001271942.1;TRIM77,missense_variant,p.Arg208Ser,ENST00000534392,;	T	ENST00000398290	Transcript	missense_variant	1206/1353	1206/1353	402/450	R/S	agG/agT		1		1	TRIM77	HGNC	HGNC:34228	protein_coding	YES	CCDS60929.1	ENSP00000474003	I1YAP6		UPI00001607F2	NM_001146162.1,NM_001271942.1	deleterious(0)		6/6		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF353,Pfam_domain:PF00622,Superfamily_domains:SSF49899,Prints_domain:PR01407																	MODERATE	1	SNV	5			1										PASS		rs1464892306	.												T	3	4	62	89717725	89717725	G	T	1	0	0	0	0	1	0	0	0	17044	1194	42	2		2	TRIM77	11	89717725	Missense_Mutation	SNP	G	C3N-00580_TP	732982	89717725	45368897	673	20133											
FAT3	0	.	GRCh38	chr11	92352664	92352664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggtgactgcaacagaCgcagatattggttccaatgg	11	8	12	10	1	0	3	0	1	0	2	1	3	1	3	2	3	2	3	2	3	3	3	rs536537428		C3N-00580_TP	C3N-00580_NB	C	C																c.102C>T	p.=	p.D34D	ENST00000525166	1/27	179	169	10	144	144	0	strelka-varscan-mutect	FAT3,synonymous_variant,p.=,ENST00000409404,NM_001008781.2;FAT3,synonymous_variant,p.=,ENST00000525166,;FAT3,upstream_gene_variant,,ENST00000528921,;	T	ENST00000525166	Transcript	synonymous_variant	124/18699	102/13320	34/4439	D	gaC/gaT	rs536537428,COSM467542,COSM467543	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895				1/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs536537428	.												T	2	4	62	92352664	92352664	C	T	1	0	0	0	0	0	0	0	1	5551	535	19	1		1	FAT3	11	92352664	Silent	SNP	C	C3N-00580_TP	2634939	92352664	42733958	674	20134											
KDM4E	0	.	GRCh38	chr11	95026850	95026850	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggttcttctcccttcCactggaagctggggttctgg	4	12	13	12	0	3	0	0	0	3	0	5	1	4	1	3	5	1	3	3	5	1	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1293C>A	p.=	p.S431S	ENST00000450979	1/1	444	324	120	356	356	0	strelka-varscan-mutect	KDM4E,synonymous_variant,p.=,ENST00000450979,NM_001161630.1;RP11-60C6.8,upstream_gene_variant,,ENST00000616726,;	A	ENST00000450979	Transcript	synonymous_variant	1593/2339	1293/1521	431/506	S	tcC/tcA		1		1	KDM4E	HGNC	HGNC:37098	protein_coding	YES	CCDS44713.1	ENSP00000397239	B2RXH2		UPI00001607E8	NM_001161630.1			1/1																			LOW	1	SNV				1										PASS		.	.												A	2	1	62	95026850	95026850	C	A	1	0	0	0	0	0	0	0	1	8050	581	21	2		2	KDM4E	11	95026850	Silent	SNP	C	C3N-00580_TP	2674186	95026850	40059772	675	20135											
ARHGAP42	0	.	GRCh38	chr11	100976057	100976057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctccctcctactccttagGtgactcctatagcagcagcc	7	11	6	17	0	1	1	0	1	1	0	5	1	4	1	5	1	4	2	5	1	4	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1856G>T	p.Ser619Ile	p.S619I	ENST00000298815	20/24	28	16	12	26	26	0	strelka-varscan-mutect	ARHGAP42,missense_variant,p.Ser585Ile,ENST00000524892,;ARHGAP42,missense_variant,p.Ser619Ile,ENST00000298815,NM_152432.2;ARHGAP42,missense_variant,p.Ser243Ile,ENST00000529535,;	T	ENST00000298815	Transcript	missense_variant,splice_region_variant	1859/4752	1856/2625	619/874	S/I	aGt/aTt		1		1	ARHGAP42	HGNC	HGNC:26545	protein_coding	YES		ENSP00000298815	A6NI28		UPI00005778C9	NM_152432.2	deleterious(0.03)		20/24		Low_complexity_(Seg):seg,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF3																	MODERATE	1	SNV	5			1										PASS		rs1225658414	.												T	3	4	62	100976057	100976057	G	T	1	0	0	0	0	1	0	0	0	1013	1275	44	2		2	ARHGAP42	11	100976057	Missense_Mutation	SNP	G	C3N-00580_TP	5949207	100976057	34110565	676	20136											
DYNC2H1	0	.	GRCh38	chr11	103135568	103135568	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaaagctctggagcatcAgtaccagatgggcttagaag	13	8	12	8	0	2	2	1	0	1	2	2	3	2	3	1	2	4	5	1	2	5	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.2279A>T	p.Gln760Leu	p.Q760L	ENST00000398093	16/90	123	94	29	149	149	0	strelka-varscan-mutect	DYNC2H1,missense_variant,p.Gln760Leu,ENST00000375735,NM_001377.2;DYNC2H1,missense_variant,p.Gln760Leu,ENST00000398093,NM_001080463.1;DYNC2H1,intron_variant,,ENST00000334267,;	T	ENST00000398093	Transcript	missense_variant	2279/12945	2279/12945	760/4314	Q/L	cAg/cTg		1		1	DYNC2H1	HGNC	HGNC:2962	protein_coding	YES	CCDS44717.1	ENSP00000381167	Q8NCM8		UPI0000481AC7	NM_001080463.1	deleterious(0)		16/90		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF282																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	103135568	103135568	A	T	1	0	0	0	0	1	0	0	0	4670	188	7	4		4	DYNC2H1	11	103135568	Missense_Mutation	SNP	A	C3N-00580_TP	2159511	103135568	31951054	677	20137											
DDI1	0	.	GRCh38	chr11	104037511	104037511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaaaacatgaatatagCgatagaagaggcccccgaga	18	5	11	7	2	0	6	0	2	0	4	0	8	0	6	2	1	2	0	2	1	8	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.689C>T	p.Ala230Val	p.A230V	ENST00000302259	1/1	344	241	103	242	241	1	strelka-varscan-mutect	DDI1,missense_variant,p.Ala230Val,ENST00000302259,NM_001001711.2;PDGFD,intron_variant,,ENST00000302251,NM_033135.3;PDGFD,intron_variant,,ENST00000393158,NM_025208.4;PDGFD,upstream_gene_variant,,ENST00000529268,;	T	ENST00000302259	Transcript	missense_variant	932/2609	689/1191	230/396	A/V	gCg/gTg		1		1	DDI1	HGNC	HGNC:18961	protein_coding	YES	CCDS31660.1	ENSP00000302805	Q8WTU0		UPI0000047AEA	NM_001001711.2	deleterious(0)		1/1		Pfam_domain:PF09668,hmmpanther:PTHR12917,hmmpanther:PTHR12917:SF15,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												T	3	4	62	104037511	104037511	C	T	1	0	0	0	0	1	0	0	0	4131	768	27	1		1	DDI1	11	104037511	Missense_Mutation	SNP	C	C3N-00580_TP	901943	104037511	31049111	678	20138											
C11orf53	0	.	GRCh38	chr11	111284260	111284260	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacttcccccaggagccCtacggagactaccggcctcc	7	6	8	20	2	0	1	0	0	0	1	2	3	2	2	7	3	4	0	7	3	3	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.192C>A	p.=	p.P64P	ENST00000637637	3/4	457	403	54	434	434	0	strelka-varscan-mutect	C11orf53,synonymous_variant,p.=,ENST00000280325,;C11orf53,synonymous_variant,p.=,ENST00000637637,NM_198498.2;C11orf53,missense_variant,p.Pro102His,ENST00000635886,;	A	ENST00000637637	Transcript	synonymous_variant	339/1049	192/711	64/236	P	ccC/ccA		1		1	C11orf53	HGNC	HGNC:30527	protein_coding	YES	CCDS31674.1	ENSP00000489630			UPI0000074367	NM_198498.2			3/4		hmmpanther:PTHR28376																	LOW	1	SNV				1										PASS		.	.												A	2	1	62	111284260	111284260	C	A	1	0	0	0	0	0	0	0	1	1786	668	24	2		2	C11orf53	11	111284260	Silent	SNP	C	C3N-00580_TP	7246749	111284260	23802362	679	20139											
HTR3B	0	.	GRCh38	chr11	113946033	113946033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcagagtggctggtcCtcctgtcccgctttgaccga	6	9	14	12	2	0	2	0	1	0	1	3	4	3	3	4	4	0	3	4	4	0	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1222C>A	p.Leu408Ile	p.L408I	ENST00000260191	9/9	491	333	158	458	457	1	strelka-varscan-mutect	HTR3B,missense_variant,p.Leu408Ile,ENST00000260191,NM_006028.4;HTR3B,missense_variant,p.Leu397Ile,ENST00000537778,;HTR3B,downstream_gene_variant,,ENST00000543092,;	A	ENST00000260191	Transcript	missense_variant	1479/2011	1222/1326	408/441	L/I	Ctc/Atc		1		1	HTR3B	HGNC	HGNC:5298	protein_coding	YES	CCDS8364.1	ENSP00000260191	O95264		UPI0000073DA3	NM_006028.4	tolerated(0.14)		9/9		hmmpanther:PTHR18945:SF53,hmmpanther:PTHR18945,Gene3D:1.20.120.370,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112																	MODERATE	1	SNV	1			1										PASS		rs1226404585	.												A	3	1	62	113946033	113946033	C	A	1	0	0	0	0	1	0	0	0	7341	681	24	2		2	HTR3B	11	113946033	Missense_Mutation	SNP	C	C3N-00580_TP	2661773	113946033	21140589	680	20140											
CADM1	0	.	GRCh38	chr11	115504341	115504341	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcccgggaggcgccgcCgccgccgctgccgccgcaca	4	1	16	20	9	0	0	0	0	0	0	0	2	0	2	7	3	2	2	7	3	0	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.54G>T	p.=	p.A18A	ENST00000331581	1/12	354	274	80	386	386	0	strelka-varscan-mutect	CADM1,synonymous_variant,p.=,ENST00000452722,NM_014333.3;CADM1,synonymous_variant,p.=,ENST00000542447,NM_001098517.1;CADM1,synonymous_variant,p.=,ENST00000537058,NM_001301044.1;CADM1,synonymous_variant,p.=,ENST00000536727,NM_001301045.1;CADM1,synonymous_variant,p.=,ENST00000545380,;CADM1,synonymous_variant,p.=,ENST00000331581,NM_001301043.1;CADM1,intron_variant,,ENST00000543249,;CADM1,non_coding_transcript_exon_variant,,ENST00000537140,;CADM1,non_coding_transcript_exon_variant,,ENST00000536781,;CADM1,synonymous_variant,p.=,ENST00000540951,;CADM1,non_coding_transcript_exon_variant,,ENST00000541434,;	A	ENST00000331581	Transcript	synonymous_variant	225/1766	54/1416	18/471	A	gcG/gcT		1		-1	CADM1	HGNC	HGNC:5951	protein_coding	YES	CCDS73399.1	ENSP00000329797	Q9BY67	X5D7A8	UPI000204AF0D	NM_001301043.1			1/12		hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF53,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		rs907370867	.												A	2	1	62	115504341	115504341	C	A	1	0	0	0	0	0	0	0	1	2256	639	23	1		1	CADM1	11	115504341	Silent	SNP	C	C3N-00580_TP	1558308	115504341	19582281	681	20141											
FXYD2	0	.	GRCh38	chr11	117820879	117820879	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcttcttattgcccccAcagcggaatcttctgccttg	5	13	8	15	2	3	0	0	0	3	0	3	1	3	1	3	1	4	1	3	1	2	5	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.156T>A	p.Cys52Ter	p.C52*	ENST00000292079	4/6	459	314	145	406	406	0	strelka-varscan-mutect	FXYD2,stop_gained,p.Cys50Ter,ENST00000528014,;FXYD6-FXYD2,stop_gained,p.Cys130Ter,ENST00000614497,NM_001204268.1;FXYD2,stop_gained,p.Cys52Ter,ENST00000292079,NM_001680.4;FXYD2,stop_gained,p.Cys50Ter,ENST00000532119,;FXYD2,stop_gained,p.Cys50Ter,ENST00000260287,NM_021603.3;FXYD6-FXYD2,missense_variant,p.Trp110Arg,ENST00000532984,NM_001243598.2;DSCAML1,upstream_gene_variant,,ENST00000525836,;RP11-728F11.3,intron_variant,,ENST00000531850,;FXYD2,upstream_gene_variant,,ENST00000514385,;FXYD2,non_coding_transcript_exon_variant,,ENST00000534383,;FXYD2,non_coding_transcript_exon_variant,,ENST00000533281,;FXYD2,downstream_gene_variant,,ENST00000317594,;	T	ENST00000292079	Transcript	stop_gained	222/571	156/201	52/66	C/*	tgT/tgA		1		-1	FXYD2	HGNC	HGNC:4026	protein_coding	YES	CCDS8386.1	ENSP00000292079	P54710		UPI00001262A8	NM_001680.4			4/6		Gene3D:1.20.5.780,PD005989,Pfam_domain:PF02038,hmmpanther:PTHR14132,hmmpanther:PTHR14132:SF3																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	62	117820879	117820879	A	T	1	0	0	0	0	0	1	0	0	5989	160	6	4		4	FXYD2	11	117820879	Nonsense_Mutation	SNP	A	C3N-00580_TP	2316538	117820879	17265743	682	20142											
TMEM136	0	.	GRCh38	chr11	120330226	120330226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggtttctccgggaaacagGgcactatcacagtttcactg	9	11	10	11	1	3	0	2	0	1	0	4	1	3	1	1	3	1	3	1	3	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.515G>T	p.Gly172Val	p.G172V	ENST00000314475	3/3	333	228	105	338	338	0	strelka-varscan-mutect	TMEM136,missense_variant,p.Gly150Val,ENST00000375095,NM_001198672.1,NM_001198671.1,NM_001198673.1;TMEM136,missense_variant,p.Gly172Val,ENST00000314475,NM_001198670.1;TMEM136,intron_variant,,ENST00000529187,NM_001198674.1,NM_174926.2;TMEM136,non_coding_transcript_exon_variant,,ENST00000531346,;TMEM136,downstream_gene_variant,,ENST00000524680,;	T	ENST00000314475	Transcript	missense_variant	842/1434	515/804	172/267	G/V	gGg/gTg		1		1	TMEM136	HGNC	HGNC:28280	protein_coding	YES	CCDS55792.1	ENSP00000312672	Q6ZRR5		UPI0000D4D33E	NM_001198670.1	deleterious(0)		3/3		Pfam_domain:PF03798,PROSITE_profiles:PS50922,hmmpanther:PTHR31898,hmmpanther:PTHR31898:SF1,SMART_domains:SM00724																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	62	120330226	120330226	G	T	1	0	0	0	0	1	0	0	0	16497	1232	43	2		2	TMEM136	11	120330226	Missense_Mutation	SNP	G	C3N-00580_TP	2509347	120330226	14756396	683	20143											
ARHGEF12	0	.	GRCh38	chr11	120451533	120451533	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagagccatggaactacAgaaggcgcgccaccctaagc	12	4	12	13	2	0	2	0	0	0	2	0	3	0	3	3	3	4	1	3	3	4	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1865A>T	p.Gln622Leu	p.Q622L	ENST00000397843	22/41	367	273	94	303	303	0	strelka-varscan-mutect	ARHGEF12,missense_variant,p.Gln622Leu,ENST00000397843,NM_015313.2;ARHGEF12,missense_variant,p.Gln519Leu,ENST00000532993,NM_001301084.1;ARHGEF12,missense_variant,p.Gln603Leu,ENST00000356641,NM_001198665.1;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000529970,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000525222,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000528225,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000532823,;ARHGEF12,downstream_gene_variant,,ENST00000525960,;	T	ENST00000397843	Transcript	missense_variant	2031/9660	1865/4635	622/1544	Q/L	cAg/cTg		1		1	ARHGEF12	HGNC	HGNC:14193	protein_coding	YES	CCDS41727.1	ENSP00000380942	Q9NZN5		UPI00000708ED	NM_015313.2	deleterious(0.04)		22/41		hmmpanther:PTHR12673:SF126,hmmpanther:PTHR12673																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	120451533	120451533	A	T	1	0	0	0	0	1	0	0	0	1027	188	7	4		4	ARHGEF12	11	120451533	Missense_Mutation	SNP	A	C3N-00580_TP	121307	120451533	14635089	684	20144											
OR10D3	0	.	GRCh38	chr11	124185758	124185758	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatcttgacctccctcacCttcaccttgccatactgtgg	7	13	6	15	0	3	1	2	1	1	0	4	1	4	1	5	1	2	1	5	1	2	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.489C>A	p.=	p.T163T	ENST00000318666	1/1	482	340	142	437	437	0	strelka-varscan-mutect	OR10D3,synonymous_variant,p.=,ENST00000318666,;	A	ENST00000318666	Transcript	synonymous_variant	543/1030	489/939	163/312	T	acC/acA		1		1	OR10D3	HGNC	HGNC:8168	protein_coding	YES		ENSP00000323895	Q8NH80		UPI000004B22A				1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF221,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	62	124185758	124185758	C	A	1	0	0	0	0	0	0	0	1	10974	668	24	2		2	OR10D3	11	124185758	Silent	SNP	C	C3N-00580_TP	3734225	124185758	10900864	685	20145											
OR8B8	0	.	GRCh38	chr11	124440721	124440721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttacagatggccacatagCggtcatacgccattgctgac	10	9	11	11	2	1	2	1	1	0	1	1	2	1	2	2	3	4	2	2	3	3	4	rs144609364		C3N-00580_TP	C3N-00580_NB	C	C																c.365G>T	p.Arg122Leu	p.R122L	ENST00000328064	1/1	292	205	87	212	212	0	strelka-varscan-mutect	OR8B8,missense_variant,p.Arg122Leu,ENST00000328064,NM_012378.1;	A	ENST00000328064	Transcript	missense_variant	438/1033	365/936	122/311	R/L	cGc/cTc	rs144609364	1		-1	OR8B8	HGNC	HGNC:8477	protein_coding	YES	CCDS8446.1	ENSP00000330280	Q15620	A0A126GW73	UPI00000015B1	NM_012378.1	deleterious_low_confidence(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF214,hmmpanther:PTHR26452,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs144609364	.												A	3	1	62	124440721	124440721	C	A	1	0	0	0	0	1	0	0	0	11300	768	27	1		1	OR8B8	11	124440721	Missense_Mutation	SNP	C	C3N-00580_TP	254963	124440721	10645901	686	20146											
SLC6A12	0	.	GRCh38	chr12	197491	197491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttcaggaagcagagggCgatgcagtccctgtgggagt	9	8	16	8	1	1	1	1	0	0	1	2	4	2	3	1	3	2	3	1	3	1	1	rs373249721		C3N-00580_TP	C3N-00580_NB	C	C																c.961G>A	p.Ala321Thr	p.A321T	ENST00000424061	11/17	102	90	12	139	139	0	strelka-varscan-mutect	SLC6A12,missense_variant,p.Ala321Thr,ENST00000424061,NM_003044.4;SLC6A12,missense_variant,p.Ala321Thr,ENST00000397296,;SLC6A12,missense_variant,p.Ala321Thr,ENST00000359674,NM_001122847.2,NM_001122848.2;SLC6A12,missense_variant,p.Ala321Thr,ENST00000536824,NM_001206931.1;RP11-283I3.1,downstream_gene_variant,,ENST00000544067,;SLC6A12,non_coding_transcript_exon_variant,,ENST00000535498,;SLC6A12,downstream_gene_variant,,ENST00000538272,;SLC6A12,non_coding_transcript_exon_variant,,ENST00000545058,;SLC6A12,non_coding_transcript_exon_variant,,ENST00000542825,;SLC6A12,non_coding_transcript_exon_variant,,ENST00000544782,;SLC6A12,downstream_gene_variant,,ENST00000538580,;SLC6A12,downstream_gene_variant,,ENST00000540094,;	T	ENST00000424061	Transcript	missense_variant	1516/3332	961/1845	321/614	A/T	Gcc/Acc	rs373249721	1		-1	SLC6A12	HGNC	HGNC:11045	protein_coding	YES	CCDS8501.1	ENSP00000399136	P48065		UPI000013C8DB	NM_003044.4	tolerated(0.39)		11/17		Superfamily_domains:0053687,Pfam_domain:PF00209,Prints_domain:PR00176,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF118																	MODERATE	1	SNV	1			1										PASS		rs373249721	.												T	3	4	62	197491	197491	C	T	1	0	0	0	0	1	0	0	0	14958	768	27	1		1	SLC6A12	12	197491	Missense_Mutation	SNP	C	C3N-00580_TP		197491	133077818	687	20147											
KCNA1	0	.	GRCh38	chr12	4912670	4912670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcagttgctccacgtcaGttcccctaacttagcctctg	6	12	8	15	1	3	0	2	0	1	0	5	0	5	0	4	1	3	4	4	1	2	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1292G>T	p.Ser431Ile	p.S431I	ENST00000382545	2/2	240	86	154	252	252	0	strelka-varscan-mutect	KCNA1,missense_variant,p.Ser431Ile,ENST00000382545,NM_000217.2;KCNA1,intron_variant,,ENST00000543874,;KCNA1,intron_variant,,ENST00000541095,;	T	ENST00000382545	Transcript	missense_variant	2399/7976	1292/1488	431/495	S/I	aGt/aTt		1		1	KCNA1	HGNC	HGNC:6218	protein_coding	YES	CCDS8535.1	ENSP00000371985	Q09470		UPI000013C8E0	NM_000217.2	tolerated_low_confidence(0.09)		2/2		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF24																	MODERATE	1	SNV	4			1										PASS		rs1241721668	.												T	3	4	62	4912670	4912670	G	T	1	0	0	0	0	1	0	0	0	7917	1029	36	2		2	KCNA1	12	4912670	Missense_Mutation	SNP	G	C3N-00580_TP	4715179	4912670	128362639	688	20148											
GPR162	0	.	GRCh38	chr12	6827204	6827204	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccccagctgaccctgtgAgcccaagcaggcctgctgaa	8	8	10	15	0	0	3	0	3	0	0	1	3	1	3	5	1	4	3	5	1	2	1	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1767A>T	p.Ter589CysextTer13	p.*589Cext*13	ENST00000311268	5/5	73	24	49	92	92	0	strelka-varscan-mutect	GPR162,stop_lost,p.Ter589CysextTer13,ENST00000311268,NM_019858.1;GPR162,stop_lost,p.Ter305CysextTer13,ENST00000428545,NM_014449.1;GPR162,stop_lost,p.Ter285CysextTer13,ENST00000382315,;GPR162,intron_variant,,ENST00000545321,;P3H3,upstream_gene_variant,,ENST00000290510,NM_014262.4;GPR162,non_coding_transcript_exon_variant,,ENST00000542330,;GPR162,downstream_gene_variant,,ENST00000541431,;P3H3,upstream_gene_variant,,ENST00000538102,;P3H3,upstream_gene_variant,,ENST00000544813,;P3H3,upstream_gene_variant,,ENST00000536140,;P3H3,upstream_gene_variant,,ENST00000612048,;GPR162,downstream_gene_variant,,ENST00000535220,;P3H3,upstream_gene_variant,,ENST00000541956,;P3H3,upstream_gene_variant,,ENST00000544200,;P3H3,upstream_gene_variant,,ENST00000544949,;	T	ENST00000311268	Transcript	stop_lost	2554/2768	1767/1767	589/588	*/C	tgA/tgT		1		1	GPR162	HGNC	HGNC:16693	protein_coding	YES	CCDS8563.1	ENSP00000311528	Q16538	A0A0I9QPQ8	UPI000005046E	NM_019858.1			5/5																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	62	6827204	6827204	A	T	1	0	0	0	0	0	0	0	0	6552	317	11	4		4	GPR162	12	6827204	Nonstop_Mutation	SNP	A	C3N-00580_TP	1914534	6827204	126448105	689	20149											
A2M	0	.	GRCh38	chr12	9104321	9104321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctcatccgtggtagcattgGagtaatagtttgcttcattt	8	16	10	7	1	2	0	2	0	0	0	3	1	3	1	1	2	2	6	1	2	3	7			C3N-00580_TP	C3N-00580_NB	G	G																c.1184C>T	p.Ser395Phe	p.S395F	ENST00000318602	11/36	215	89	126	301	300	1	strelka-varscan-mutect	A2M,missense_variant,p.Ser395Phe,ENST00000318602,NM_000014.4;A2M,non_coding_transcript_exon_variant,,ENST00000545828,;A2M,upstream_gene_variant,,ENST00000472360,;A2M,upstream_gene_variant,,ENST00000546069,;	A	ENST00000318602	Transcript	missense_variant	1492/4844	1184/4425	395/1474	S/F	tCc/tTc	COSM229215	1		-1	A2M	HGNC	HGNC:7	protein_coding	YES	CCDS44827.1	ENSP00000323929	P01023		UPI000014038F	NM_000014.4	tolerated(0.54)		11/36		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF103											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	62	9104321	9104321	G	A	1	0	0	0	0	1	0	0	0	3	1174	41	3		3	A2M	12	9104321	Missense_Mutation	SNP	G	C3N-00580_TP	2277117	9104321	124170988	690	20150											
PZP	0	.	GRCh38	chr12	9196668	9196668	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtacttgttgggtgatGcagccattgctgttaagctg	6	15	14	6	0	0	1	0	1	0	0	0	1	0	1	1	1	5	6	1	1	2	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.885C>A	p.Cys295Ter	p.C295*	ENST00000261336	9/36	303	144	159	208	208	0	strelka-varscan-mutect	PZP,stop_gained,p.Cys295Ter,ENST00000261336,NM_002864.2;PZP,3_prime_UTR_variant,,ENST00000535230,;	T	ENST00000261336	Transcript	stop_gained	914/4610	885/4449	295/1482	C/*	tgC/tgA		1		-1	PZP	HGNC	HGNC:9750	protein_coding	YES	CCDS8600.1	ENSP00000261336	P20742		UPI000013D168	NM_002864.2			9/36		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF92																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	62	9196668	9196668	G	T	1	0	0	0	0	0	1	0	0	13025	1311	46	2		2	PZP	12	9196668	Nonsense_Mutation	SNP	G	C3N-00580_TP	92347	9196668	124078641	691	20151											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3N-00580_TP	C3N-00580_NB	C	C																c.34G>A	p.Gly12Ser	p.G12S	ENST00000256078	2/6	394	139	255	358	357	1	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Ser,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Ser,ENST00000556131,;KRAS,missense_variant,p.Gly12Ser,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Ser,ENST00000557334,;	T	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/S	Ggt/Agt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.03)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												T	3	4	62	25245351	25245351	C	T	1	0	0	0	0	1	0	0	0	8318	594	21	3		3	KRAS	12	25245351	Missense_Mutation	SNP	C	C3N-00580_TP	16048683	25245351	108029958	692	20152											
DDX11	0	.	GRCh38	chr12	31089141	31089141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttcggctggtctcccttgGctcccggcaggtaaacagta	6	11	12	12	2	1	0	0	0	1	0	4	0	2	0	2	5	1	6	2	5	3	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.782G>T	p.Gly261Val	p.G261V	ENST00000545668	7/27	396	296	100	457	457	0	strelka-varscan-mutect	DDX11,missense_variant,p.Gly261Val,ENST00000545668,NM_152438.1,NM_001257144.1;DDX11,missense_variant,p.Gly261Val,ENST00000350437,NM_004399.2;DDX11,missense_variant,p.Gly235Val,ENST00000228264,NM_001257145.1;DDX11,missense_variant,p.Gly261Val,ENST00000542838,NM_030653.3;DDX11,missense_variant,p.Gly232Val,ENST00000438391,;DDX11,downstream_gene_variant,,ENST00000415475,;DDX11,downstream_gene_variant,,ENST00000535317,;DDX11,downstream_gene_variant,,ENST00000544652,;DDX11,non_coding_transcript_exon_variant,,ENST00000545717,;DDX11,upstream_gene_variant,,ENST00000539673,;DDX11,missense_variant,p.Gly261Val,ENST00000539049,;DDX11,missense_variant,p.Gly261Val,ENST00000542129,;DDX11,missense_variant,p.Gly235Val,ENST00000540935,;DDX11,3_prime_UTR_variant,,ENST00000435753,;DDX11,3_prime_UTR_variant,,ENST00000542244,;DDX11,non_coding_transcript_exon_variant,,ENST00000536265,;DDX11,non_coding_transcript_exon_variant,,ENST00000543026,;DDX11,non_coding_transcript_exon_variant,,ENST00000535158,;DDX11,non_coding_transcript_exon_variant,,ENST00000542242,;DDX11,intron_variant,,ENST00000538345,;DDX11,upstream_gene_variant,,ENST00000536580,;DDX11,downstream_gene_variant,,ENST00000543756,;	T	ENST00000545668	Transcript	missense_variant	862/3751	782/2913	261/970	G/V	gGc/gTc		1		1	DDX11	HGNC	HGNC:2736	protein_coding	YES	CCDS44856.1	ENSP00000440402	Q96FC9		UPI000006F88F	NM_152438.1,NM_001257144.1	deleterious(0)		7/27		Pfam_domain:PF06733,PROSITE_profiles:PS51193,hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF36,SMART_domains:SM00488,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00604																	MODERATE	1	SNV	1			1										PASS		rs1169571267	.												T	3	4	62	31089141	31089141	G	T	1	0	0	0	0	1	0	0	0	4147	1203	42	2		2	DDX11	12	31089141	Missense_Mutation	SNP	G	C3N-00580_TP	5843790	31089141	102186168	693	20153											
OVOS2	0	.	GRCh38	chr12	31136621	31136621	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatggttaaaactcacTcgacactgacgaggtcccac	15	7	8	11	2	1	2	1	1	0	1	3	4	2	2	1	2	1	1	1	2	4	1	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.2204A>T	p.Asp735Val	p.D735V	ENST00000632817	16/34	123	83	40	107	107	0	strelka-varscan-mutect	OVOS2,missense_variant,p.Asp735Val,ENST00000398963,;OVOS2,missense_variant,p.Asp735Val,ENST00000632817,;	A	ENST00000632817	Transcript	missense_variant,splice_region_variant	2204/4299	2204/4299	735/1432	D/V	gAt/gTt		1		-1	OVOS2	Clone_based_vega_gene		protein_coding	YES		ENSP00000487815		A0A0J9YW53	UPI0001AE6AF7		deleterious(0)		16/34		hmmpanther:PTHR11412:SF77,hmmpanther:PTHR11412,Pfam_domain:PF00207,SMART_domains:SM01360																	MODERATE	1	SNV	5			1										PASS		rs1443230410	.												A	3	1	62	31136621	31136621	T	A	1	0	0	0	0	1	0	0	0	11399	1565	54	4		4	OVOS2	12	31136621	Missense_Mutation	SNP	T	C3N-00580_TP	47480	31136621	102138688	694	20154											
ABCD2	0	.	GRCh38	chr12	39619413	39619413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcacaaatggtctcggtgCaatgcagtatttctgtgttc	8	16	9	8	1	3	0	1	0	2	0	5	0	3	0	0	2	2	4	0	2	3	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.203G>A	p.Cys68Tyr	p.C68Y	ENST00000308666	1/10	248	169	79	226	225	1	strelka-varscan-mutect	ABCD2,missense_variant,p.Cys68Tyr,ENST00000308666,NM_005164.3;	T	ENST00000308666	Transcript	missense_variant	339/6238	203/2223	68/740	C/Y	tGc/tAc		1		-1	ABCD2	HGNC	HGNC:66	protein_coding	YES	CCDS8734.1	ENSP00000310688	Q9UBJ2		UPI000004C4C6	NM_005164.3	deleterious(0.04)		1/10		hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	39619413	39619413	C	T	1	0	0	0	0	1	0	0	0	65	710	25	3		3	ABCD2	12	39619413	Missense_Mutation	SNP	C	C3N-00580_TP	8482792	39619413	93655896	695	20155											
SLC2A13	0	.	GRCh38	chr12	39864882	39864882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taatgagtgctacggtggtaCcttaaaaaaaaaaagtttta	17	12	8	4	1	0	1	0	1	0	0	0	1	0	1	1	2	3	3	1	2	10	6			C3N-00580_TP	C3N-00580_NB	C	C																c.1199G>T	p.Gly400Val	p.G400V	ENST00000280871	6/10	133	124	9	156	156	0	varscan-mutect	SLC2A13,missense_variant,p.Gly400Val,ENST00000280871,NM_052885.3;SLC2A13,splice_region_variant,,ENST00000465517,;C12orf40,intron_variant,,ENST00000468200,;	A	ENST00000280871	Transcript	missense_variant,splice_region_variant	1250/7003	1199/1947	400/648	G/V	gGt/gTt	COSM5300175,COSM5300176	1		-1	SLC2A13	HGNC	HGNC:15956	protein_coding	YES	CCDS8736.2	ENSP00000280871	Q96QE2		UPI000066D913	NM_052885.3	deleterious(0)		6/10		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR23500,hmmpanther:PTHR23500:SF89,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879,Transmembrane_helices:TMhelix											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	62	39864882	39864882	C	A	1	0	0	0	0	1	0	0	0	14812	521	18	2		2	SLC2A13	12	39864882	Missense_Mutation	SNP	C	C3N-00580_TP	245469	39864882	93410427	696	20156											
LRRK2	0	.	GRCh38	chr12	40305945	40305945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgattttaaacatataggatGtaaagccaaagacatcataa	19	11	6	5	0	1	2	1	1	0	1	1	3	1	3	1	1	2	1	1	1	8	6	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.3938G>C	p.Cys1313Ser	p.C1313S	ENST00000298910	28/51	107	72	35	114	114	0	strelka-varscan-mutect	LRRK2,missense_variant,p.Cys1313Ser,ENST00000298910,NM_198578.3;LRRK2,downstream_gene_variant,,ENST00000343742,;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;	C	ENST00000298910	Transcript	missense_variant	3996/9158	3938/7584	1313/2527	C/S	tGt/tCt		1		1	LRRK2	HGNC	HGNC:18618	protein_coding	YES	CCDS31774.1	ENSP00000298910	Q5S007		UPI00006C128E	NM_198578.3	tolerated(0.78)		28/51		Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	40305945	40305945	G	C	1	0	0	0	0	1	0	0	0	8939	1377	48	4		4	LRRK2	12	40305945	Missense_Mutation	SNP	G	C3N-00580_TP	441063	40305945	92969364	697	20157											
CNTN1	0	.	GRCh38	chr12	41025162	41025162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtttgcagattcggtattggGctgcccatgacaaagaagaa	12	10	12	7	1	0	4	0	1	0	3	1	4	0	4	1	2	2	4	1	2	4	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2536G>T	p.Ala846Ser	p.A846S	ENST00000551295	21/24	343	273	70	289	289	0	strelka-varscan-mutect	CNTN1,missense_variant,p.Ala846Ser,ENST00000551295,NM_001843.3;CNTN1,missense_variant,p.Ala846Ser,ENST00000347616,;CNTN1,missense_variant,p.Ala835Ser,ENST00000348761,NM_175038.2;CNTN1,non_coding_transcript_exon_variant,,ENST00000550305,;CNTN1,upstream_gene_variant,,ENST00000548481,;	T	ENST00000551295	Transcript	missense_variant	2653/5557	2536/3057	846/1018	A/S	Gct/Tct		1		1	CNTN1	HGNC	HGNC:2171	protein_coding	YES	CCDS8737.1	ENSP00000447006	Q12860	A0A024R104	UPI0000127EBA	NM_001843.3	tolerated(0.12)		21/24		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	41025162	41025162	G	T	1	0	0	0	0	1	0	0	0	3421	1203	42	2		2	CNTN1	12	41025162	Missense_Mutation	SNP	G	C3N-00580_TP	719217	41025162	92250147	698	20158											
ADCY6	0	.	GRCh38	chr12	48769025	48769025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catactgtggcttccgagccCcgatgacacctgccacgact	8	8	9	16	3	0	1	0	1	0	0	1	4	1	1	5	1	3	1	5	1	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.3293G>T	p.Gly1098Val	p.G1098V	ENST00000307885	20/21	107	77	30	127	127	0	strelka-varscan-mutect	ADCY6,missense_variant,p.Gly1098Val,ENST00000307885,NM_015270.3;ADCY6,missense_variant,p.Gly1045Val,ENST00000550422,NM_020983.2;ADCY6,missense_variant,p.Gly1045Val,ENST00000357869,;LINC00935,downstream_gene_variant,,ENST00000548380,;MIR4701,downstream_gene_variant,,ENST00000583094,;RP11-579D7.2,downstream_gene_variant,,ENST00000548742,;ADCY6,downstream_gene_variant,,ENST00000552090,;ADCY6,downstream_gene_variant,,ENST00000548351,;ADCY6,non_coding_transcript_exon_variant,,ENST00000547260,;ADCY6,downstream_gene_variant,,ENST00000552099,;LINC00935,downstream_gene_variant,,ENST00000548054,;	A	ENST00000307885	Transcript	missense_variant	3988/6464	3293/3507	1098/1168	G/V	gGg/gTg		1		-1	ADCY6	HGNC	HGNC:237	protein_coding	YES	CCDS8767.1	ENSP00000311405	O43306		UPI000003EC29	NM_015270.3	deleterious(0)		20/21		PROSITE_profiles:PS50125,hmmpanther:PTHR11920:SF343,hmmpanther:PTHR11920,PROSITE_patterns:PS00452,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,Gene3D:3.30.70.1230,SMART_domains:SM00044,Superfamily_domains:SSF55073																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	48769025	48769025	C	A	1	0	0	0	0	1	0	0	0	342	623	22	2		2	ADCY6	12	48769025	Missense_Mutation	SNP	C	C3N-00580_TP	7743863	48769025	84506284	699	20159											
ACVRL1	0	.	GRCh38	chr12	51913270	51913270	+	Frame_Shift_Del	DEL	G	G	-																															cttgcacagggagctctgcaGggggcgccccaccgagttcg																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.237delG	p.Arg80AlafsTer42	p.R80Afs*42	ENST00000388922	3/10	499	333	166	776	776	0	sindel-varindel-pindel	ACVRL1,frameshift_variant,p.Arg94AlafsTer42,ENST00000550683,;ACVRL1,frameshift_variant,p.Arg80AlafsTer42,ENST00000388922,NM_000020.2,NM_001077401.1;ACVRL1,frameshift_variant,p.Arg94AlafsTer?,ENST00000547400,;ACVRL1,frameshift_variant,p.Arg80AlafsTer?,ENST00000551576,;ACVRL1,intron_variant,,ENST00000419526,;ACVRL1,upstream_gene_variant,,ENST00000552678,;ACVRL1,upstream_gene_variant,,ENST00000547632,;	-	ENST00000388922	Transcript	frameshift_variant	516/1971	233/1512	78/503	R/X	aGg/ag		1		1	ACVRL1	HGNC	HGNC:175	protein_coding	YES	CCDS31804.1	ENSP00000373574	P37023	A0A0S2Z310	UPI000000D9F4	NM_000020.2,NM_001077401.1			3/10		hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF66,Gene3D:2.10.60.10,Superfamily_domains:SSF57302,Prints_domain:PR00653																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	62	51913270	51913270	G	-	1	0	1	0	1	0	0	0	0	269	1000	35	0		0	ACVRL1	12	51913270	Frame_Shift_Del	DEL	G	C3N-00580_TP	3144245	51913270	81362039	700	20160											
KRT6B	0	.	GRCh38	chr12	52449767	52449767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagttgcttactgcatcataCaaggctctcaggaagttgat	11	12	10	8	0	2	1	2	1	1	0	3	3	2	2	0	2	4	5	0	2	4	4	rs781409851		C3N-00580_TP	C3N-00580_NB	C	C																c.903G>T	p.Leu301Phe	p.L301F	ENST00000252252	4/9	796	554	242	819	818	1	strelka-varscan-mutect	KRT6B,missense_variant,p.Leu301Phe,ENST00000252252,NM_005555.3;	A	ENST00000252252	Transcript	missense_variant	951/2282	903/1695	301/564	L/F	ttG/ttT	rs781409851	1		-1	KRT6B	HGNC	HGNC:6444	protein_coding	YES	CCDS8828.1	ENSP00000252252	P04259		UPI000013CD50	NM_005555.3	tolerated(0.24)		4/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Pfam_domain:PF00038,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		rs781409851	.												A	3	1	62	52449767	52449767	C	A	1	0	0	0	0	1	0	0	0	8363	477	17	2		2	KRT6B	12	52449767	Missense_Mutation	SNP	C	C3N-00580_TP	536497	52449767	80825542	701	20161											
KRT72	0	.	GRCh38	chr12	52590937	52590937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcatccccatgctggcCtgctgtgacctgcagctcct	5	10	11	15	0	1	1	1	1	0	0	3	2	3	1	5	2	4	4	5	2	0	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.988G>T	p.Gly330Cys	p.G330C	ENST00000293745	6/9	86	63	23	72	72	0	strelka-varscan-mutect	KRT72,missense_variant,p.Gly330Cys,ENST00000293745,NM_080747.2;KRT72,missense_variant,p.Gly330Cys,ENST00000537672,NM_001146225.1;KRT72,intron_variant,,ENST00000354310,NM_001146226.1;KRT72,3_prime_UTR_variant,,ENST00000550829,;	A	ENST00000293745	Transcript	missense_variant	1074/2015	988/1536	330/511	G/C	Ggc/Tgc		1		-1	KRT72	HGNC	HGNC:28932	protein_coding	YES	CCDS8833.1	ENSP00000293745	Q14CN4		UPI0000055AC8	NM_080747.2	deleterious(0)		6/9		Pfam_domain:PF00038,Prints_domain:PR01276,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF86,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	52590937	52590937	C	A	1	0	0	0	0	1	0	0	0	8367	681	24	2		2	KRT72	12	52590937	Missense_Mutation	SNP	C	C3N-00580_TP	141170	52590937	80684372	702	20162											
KRT78	0	.	GRCh38	chr12	52839477	52839477	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgacctggctggtgcactCcccagacatcctagggggaa	9	7	13	12	0	0	2	0	1	0	1	2	3	2	3	4	4	1	2	4	4	2	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1279G>T	p.Glu427Ter	p.E427*	ENST00000304620	8/9	79	62	17	80	80	0	strelka-varscan-mutect	KRT78,stop_gained,p.Glu317Ter,ENST00000359499,NM_001300814.1;KRT78,stop_gained,p.Glu427Ter,ENST00000304620,NM_173352.3;KRT78,intron_variant,,ENST00000547920,;RP11-153F5.3,downstream_gene_variant,,ENST00000550463,;	A	ENST00000304620	Transcript	stop_gained	1343/1778	1279/1563	427/520	E/*	Gag/Tag		1		-1	KRT78	HGNC	HGNC:28926	protein_coding	YES	CCDS8840.1	ENSP00000306261	Q8N1N4		UPI00001AEDBE	NM_173352.3			8/9		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF127																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	62	52839477	52839477	C	A	1	0	0	0	0	0	1	0	0	8373	864	30	2		2	KRT78	12	52839477	Nonsense_Mutation	SNP	C	C3N-00580_TP	248540	52839477	80435832	703	20163											
PDE1B	0	.	GRCh38	chr12	54573354	54573354	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacctttggctttgtaGgtcagaatgtgccatcgtgt	7	15	12	7	1	1	3	1	2	0	1	2	3	1	3	2	2	1	2	2	2	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.837-1G>C		p.X279_splice	ENST00000243052		236	167	69	248	248	0	strelka-varscan-mutect	PDE1B,splice_acceptor_variant,,ENST00000243052,NM_000924.3;PDE1B,splice_acceptor_variant,,ENST00000550620,NM_001165975.2;PDE1B,splice_acceptor_variant,,ENST00000538346,NM_001288768.1,NM_001288769.1;PPP1R1A,downstream_gene_variant,,ENST00000547431,;PDE1B,splice_acceptor_variant,,ENST00000394277,;PDE1B,splice_acceptor_variant,,ENST00000542335,;PDE1B,splice_acceptor_variant,,ENST00000548855,;PDE1B,splice_acceptor_variant,,ENST00000550285,;PDE1B,upstream_gene_variant,,ENST00000552774,;PDE1B,downstream_gene_variant,,ENST00000611899,;	C	ENST00000243052	Transcript	splice_acceptor_variant	-/3444	837/1611	279/536				1		1	PDE1B	HGNC	HGNC:8775	protein_coding	YES	CCDS8882.1	ENSP00000243052	Q01064	A0A024RB59	UPI0000001607	NM_000924.3				8/15																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	62	54573354	54573354	G	C	1	0	0	0	0	0	0	1	0	11722	1014	35	4		4	PDE1B	12	54573354	Splice_Site	SNP	G	C3N-00580_TP	1733877	54573354	78701955	704	20164											
OR6C74	0	.	GRCh38	chr12	55247601	55247602	+	Frame_Shift_Ins	INS	-	-	GG																															ctgtttttcactattctcttINSgggggcaactgaattttttc																								novel		C3N-00580_TP	C3N-00580_NB	-	-																c.318_319dupGG	p.Ala107GlyfsTer29	p.A107Gfs*29	ENST00000343870	1/1	83	64	19	83	83	0	sindel-varindel-pindel	OR6C74,frameshift_variant,p.Ala107GlyfsTer29,ENST00000343870,NM_001005490.1;	GG	ENST00000343870	Transcript	frameshift_variant	404-405/1105	314-315/939	105/312	L/LX	ttg/ttGGg		1		1	OR6C74	HGNC	HGNC:31303	protein_coding	YES	CCDS31816.1	ENSP00000342836	A6NCV1	A0A126GW13	UPI000016150B	NM_001005490.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF72,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	HIGH	1	insertion		5		1										PASS		.	.												GG	7	5	62	55247601	55247601	-	GG	1	0	1	1	0	0	0	0	0	11266	1821	63	0		0	OR6C74	12	55247601	Frame_Shift_Ins	INS	-	C3N-00580_TP	674247	55247601	78027708	705	20165											
STAT6	0	.	GRCh38	chr12	57096900	57096900	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcaggcagctgtcttcCaccatggtcacatctgagca	8	10	10	13	0	4	1	2	1	2	0	5	1	5	1	2	3	2	4	2	3	0	1	rs780219389		C3N-00580_TP	C3N-00580_NB	C	C																c.2304G>T	p.=	p.V768V	ENST00000300134	21/22	164	112	52	219	218	1	strelka-varscan-mutect	STAT6,synonymous_variant,p.=,ENST00000300134,NM_003153.4,NM_001178078.1;STAT6,synonymous_variant,p.=,ENST00000543873,NM_001178079.1;STAT6,synonymous_variant,p.=,ENST00000454075,;STAT6,synonymous_variant,p.=,ENST00000556155,;STAT6,synonymous_variant,p.=,ENST00000537215,NM_001178080.1;STAT6,synonymous_variant,p.=,ENST00000538913,NM_001178081.1;NAB2,downstream_gene_variant,,ENST00000300131,NM_005967.3;NAB2,downstream_gene_variant,,ENST00000342556,;STAT6,downstream_gene_variant,,ENST00000553533,;STAT6,downstream_gene_variant,,ENST00000555375,;STAT6,downstream_gene_variant,,ENST00000555318,;STAT6,3_prime_UTR_variant,,ENST00000554764,;STAT6,non_coding_transcript_exon_variant,,ENST00000555222,;STAT6,non_coding_transcript_exon_variant,,ENST00000557563,;NAB2,downstream_gene_variant,,ENST00000554839,;STAT6,downstream_gene_variant,,ENST00000554202,;	A	ENST00000300134	Transcript	synonymous_variant	2630/4034	2304/2544	768/847	V	gtG/gtT	rs780219389	1		-1	STAT6	HGNC	HGNC:11368	protein_coding	YES	CCDS8931.1	ENSP00000300134	P42226		UPI00000473FE	NM_003153.4,NM_001178078.1			21/22		Pfam_domain:PF14596																	LOW	1	SNV	1			1										PASS		rs780219389	.												A	2	1	62	57096900	57096900	C	A	1	0	0	0	0	0	0	0	1	15646	581	21	2		2	STAT6	12	57096900	Silent	SNP	C	C3N-00580_TP	1849299	57096900	76178409	706	20166											
DPY19L2	0	.	GRCh38	chr12	63618203	63618203	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggttcaatgtatcccacaAcatacatgggaaataatgat	15	12	7	7	0	1	1	1	1	0	0	2	2	2	2	1	2	2	2	1	2	6	5	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1079T>A	p.Val360Asp	p.V360D	ENST00000324472	10/22	30	21	9	52	52	0	strelka-varscan-mutect	DPY19L2,missense_variant,p.Val360Asp,ENST00000324472,NM_173812.4;DPY19L2,missense_variant,p.Val26Asp,ENST00000541083,;DPY19L2,3_prime_UTR_variant,,ENST00000306389,;	T	ENST00000324472	Transcript	missense_variant	1263/4060	1079/2277	360/758	V/D	gTt/gAt		1		-1	DPY19L2	HGNC	HGNC:19414	protein_coding	YES	CCDS31851.1	ENSP00000315988	Q6NUT2		UPI000006EC0C	NM_173812.4	deleterious(0)		10/22		Pfam_domain:PF10034,hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF6,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	63618203	63618203	A	T	1	0	0	0	0	1	0	0	0	4556	43	2	4		4	DPY19L2	12	63618203	Missense_Mutation	SNP	A	C3N-00580_TP	6521303	63618203	69657106	707	20167											
HELB	0	.	GRCh38	chr12	66309723	66309723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagataacctacagagagtgGaaactcctgcgatgtgaggc	14	7	12	8	1	0	3	0	1	0	2	1	6	1	4	2	2	4	0	2	2	4	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.795G>T	p.Trp265Cys	p.W265C	ENST00000247815	4/13	67	48	19	51	51	0	strelka-varscan-mutect	HELB,missense_variant,p.Trp265Cys,ENST00000247815,NM_033647.3;HELB,missense_variant,p.Trp265Cys,ENST00000545134,;HELB,missense_variant,p.Trp265Cys,ENST00000542394,;HELB,missense_variant,p.Trp265Cys,ENST00000440906,;	T	ENST00000247815	Transcript	missense_variant	854/12866	795/3264	265/1087	W/C	tgG/tgT		1		1	HELB	HGNC	HGNC:17196	protein_coding	YES	CCDS8976.1	ENSP00000247815	Q8NG08		UPI000013CC2D	NM_033647.3	deleterious(0)		4/13																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	66309723	66309723	G	T	1	0	0	0	0	1	0	0	0	6927	1183	41	2		2	HELB	12	66309723	Missense_Mutation	SNP	G	C3N-00580_TP	2691520	66309723	66965586	708	20168											
CPM	0	.	GRCh38	chr12	68885875	68885875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaccgccccacaacaagaaCccacaggtttctacctttac	14	7	4	16	1	1	1	0	0	1	1	1	1	1	1	5	1	5	1	5	1	6	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.175G>T	p.Val59Phe	p.V59F	ENST00000551568	3/9	203	142	61	282	282	0	strelka-varscan-mutect	CPM,missense_variant,p.Val59Phe,ENST00000551568,NM_001005502.2,NM_198320.3;CPM,missense_variant,p.Val59Phe,ENST00000338356,;CPM,missense_variant,p.Val59Phe,ENST00000546373,NM_001874.4;CPM,missense_variant,p.Val59Phe,ENST00000548954,;CPM,missense_variant,p.Val59Phe,ENST00000548262,;CPM,synonymous_variant,p.=,ENST00000549781,;CPM,non_coding_transcript_exon_variant,,ENST00000547924,;CPM,intron_variant,,ENST00000551728,;CPM,intron_variant,,ENST00000547134,;	A	ENST00000551568	Transcript	missense_variant	236/6655	175/1332	59/443	V/F	Gtt/Ttt		1		-1	CPM	HGNC	HGNC:2311	protein_coding	YES	CCDS8987.1	ENSP00000448517	P14384		UPI00001271D4	NM_001005502.2,NM_198320.3	deleterious(0)		3/9		hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF40,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187,Prints_domain:PR00765																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	68885875	68885875	C	A	1	0	0	0	0	1	0	0	0	3603	507	18	2		2	CPM	12	68885875	Missense_Mutation	SNP	C	C3N-00580_TP	2576152	68885875	64389434	709	20169											
PTPRB	0	.	GRCh38	chr12	70559421	70559421	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcttgacgttgaattgatAggatctccctggacgaagac	11	11	11	8	2	2	4	0	3	2	1	3	7	2	6	1	2	0	1	1	2	3	4	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.4636T>C	p.Tyr1546His	p.Y1546H	ENST00000334414	18/34	618	496	122	457	457	0	strelka-varscan-mutect	PTPRB,missense_variant,p.Tyr1546His,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Tyr1458His,ENST00000550358,;PTPRB,missense_variant,p.Tyr1328His,ENST00000261266,NM_002837.4;PTPRB,missense_variant,p.Tyr1238His,ENST00000538708,NM_001206972.1;PTPRB,missense_variant,p.Tyr1238His,ENST00000550857,NM_001206971.1;PTPRB,missense_variant,p.Tyr1545His,ENST00000551525,;PTPRB,downstream_gene_variant,,ENST00000548122,;	G	ENST00000334414	Transcript	missense_variant	4681/12316	4636/6648	1546/2215	Y/H	Tat/Cat		1		-1	PTPRB	HGNC	HGNC:9665	protein_coding	YES	CCDS44943.1	ENSP00000334928	P23467		UPI00002294FA	NM_001109754.2	deleterious(0)		18/34		PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF288,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	70559421	70559421	A	G	1	0	0	0	0	1	0	0	0	12950	420	15	5		5	PTPRB	12	70559421	Missense_Mutation	SNP	A	C3N-00580_TP	1673546	70559421	62715888	710	20170											
LGR5	0	.	GRCh38	chr12	71580313	71580313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatgcttaccagtgctgtgCatttggagtgtgtgagaatg	8	15	13	5	0	0	1	0	1	0	1	0	3	0	2	1	1	4	3	1	1	3	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1442C>A	p.Ala481Glu	p.A481E	ENST00000266674	16/18	109	79	30	137	137	0	strelka-mutect	LGR5,missense_variant,p.Ala481Glu,ENST00000266674,NM_003667.3;LGR5,missense_variant,p.Ala457Glu,ENST00000540815,NM_001277226.1;LGR5,missense_variant,p.Ala409Glu,ENST00000536515,NM_001277227.1;RP11-186F10.2,downstream_gene_variant,,ENST00000546601,;LGR5,non_coding_transcript_exon_variant,,ENST00000550851,;LGR5,downstream_gene_variant,,ENST00000547310,;	A	ENST00000266674	Transcript	missense_variant	1753/4611	1442/2724	481/907	A/E	gCa/gAa		1		1	LGR5	HGNC	HGNC:4504	protein_coding	YES	CCDS9000.1	ENSP00000266674	O75473	A0A0A8K8C7	UPI000004B65C	NM_003667.3	deleterious(0.01)		16/18		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF259																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	71580313	71580313	C	A	1	0	0	0	0	1	0	0	0	8667	710	25	2		2	LGR5	12	71580313	Missense_Mutation	SNP	C	C3N-00580_TP	1020892	71580313	61694996	711	20171											
ZFC3H1	0	.	GRCh38	chr12	71614606	71614606	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggtatcgggcagggactgTaaccaaacatctattcacta	12	9	11	9	1	2	0	1	0	1	0	3	1	2	1	1	4	2	3	1	4	5	5	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.5455A>T	p.Thr1819Ser	p.T1819S	ENST00000378743	30/35	148	101	47	158	158	0	strelka-varscan-mutect	ZFC3H1,missense_variant,p.Thr1819Ser,ENST00000378743,NM_144982.4;ZFC3H1,missense_variant,p.Thr1819Ser,ENST00000552994,;ZFC3H1,non_coding_transcript_exon_variant,,ENST00000546475,;ZFC3H1,upstream_gene_variant,,ENST00000550963,;ZFC3H1,upstream_gene_variant,,ENST00000551487,;ZFC3H1,upstream_gene_variant,,ENST00000547398,;ZFC3H1,downstream_gene_variant,,ENST00000546771,;	A	ENST00000378743	Transcript	missense_variant	5814/7285	5455/5970	1819/1989	T/S	Aca/Tca		1		-1	ZFC3H1	HGNC	HGNC:28328	protein_coding	YES	CCDS41813.1	ENSP00000368017	O60293		UPI00003668E9	NM_144982.4	tolerated(0.19)		30/35		hmmpanther:PTHR21563,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	71614606	71614606	T	A	1	0	0	0	0	1	0	0	0	18210	1638	57	4		4	ZFC3H1	12	71614606	Missense_Mutation	SNP	T	C3N-00580_TP	34293	71614606	61660703	712	20172											
NAV3	0	.	GRCh38	chr12	78006672	78006672	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggtcaaaactgctccCtcaggacagaaatccatgct	13	7	10	11	0	2	1	2	0	0	1	4	3	4	2	2	3	3	2	2	3	4	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1134C>A	p.=	p.P378P	ENST00000397909	8/40	441	368	73	370	370	0	strelka-varscan-mutect	NAV3,synonymous_variant,p.=,ENST00000397909,NM_001024383.1;NAV3,synonymous_variant,p.=,ENST00000536525,NM_014903.5;NAV3,synonymous_variant,p.=,ENST00000549464,;NAV3,synonymous_variant,p.=,ENST00000550042,;NAV3,synonymous_variant,p.=,ENST00000550503,;NAV3,downstream_gene_variant,,ENST00000547725,;NAV3,upstream_gene_variant,,ENST00000550673,;	A	ENST00000397909	Transcript	synonymous_variant	1307/9821	1134/7158	378/2385	P	ccC/ccA		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1			8/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	78006672	78006672	C	A	1	0	0	0	0	0	0	0	1	10194	668	24	2		2	NAV3	12	78006672	Silent	SNP	C	C3N-00580_TP	6392066	78006672	55268637	713	20173											
OTOGL	0	.	GRCh38	chr12	80339093	80339093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtagaagtggattccattGttgtgcctttgcccttttca	7	16	10	8	0	1	1	1	0	0	1	2	2	2	2	3	2	2	2	3	2	2	7	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.4852G>T	p.Val1618Phe	p.V1618F	ENST00000458043	42/58	101	63	38	107	107	0	strelka-varscan-mutect	OTOGL,missense_variant,p.Val1618Phe,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Val1606Phe,ENST00000547103,;OTOGL,missense_variant,p.Val61Phe,ENST00000298820,;RN7SKP261,downstream_gene_variant,,ENST00000410948,;	T	ENST00000458043	Transcript	missense_variant	4858/8083	4852/7035	1618/2344	V/F	Gtt/Ttt		1		1	OTOGL	HGNC	HGNC:26901	protein_coding	YES		ENSP00000400895		A0A0A0MSS2	UPI0001D089C5	NM_173591.3	tolerated(0.7)		42/58		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF225,Pfam_domain:PF00094,SMART_domains:SM00216																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	80339093	80339093	G	T	1	0	0	0	0	1	0	0	0	11371	1377	48	2		2	OTOGL	12	80339093	Missense_Mutation	SNP	G	C3N-00580_TP	2332421	80339093	52936216	714	20174											
TMTC2	0	.	GRCh38	chr12	82896174	82896174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcgtagacagagaatgCaatgggaaaactgtaacaaa	18	5	11	7	2	0	2	0	0	0	2	0	5	0	3	1	1	4	3	1	1	7	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1011C>T	p.=	p.C337C	ENST00000321196	3/12	202	136	66	171	171	0	strelka-varscan-mutect	TMTC2,synonymous_variant,p.=,ENST00000549919,;TMTC2,synonymous_variant,p.=,ENST00000321196,NM_152588.1;TMTC2,synonymous_variant,p.=,ENST00000548305,NM_001320322.1;TMTC2,3_prime_UTR_variant,,ENST00000546590,NM_001320321.1;TMTC2,non_coding_transcript_exon_variant,,ENST00000551915,;	T	ENST00000321196	Transcript	synonymous_variant	1718/5681	1011/2511	337/836	C	tgC/tgT		1		1	TMTC2	HGNC	HGNC:25440	protein_coding	YES	CCDS9025.1	ENSP00000322300	Q8N394		UPI0000073F0F	NM_152588.1			3/12		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF390																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	82896174	82896174	C	T	1	0	0	0	0	0	0	0	1	16735	718	25	3		3	TMTC2	12	82896174	Silent	SNP	C	C3N-00580_TP	2557081	82896174	50379135	715	20175											
TSPAN19	0	.	GRCh38	chr12	85029881	85029881	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataattatgaagattcttacCaagaaagctccattaatgag	17	12	6	6	0	1	4	0	2	1	2	2	4	2	4	2	0	2	1	2	0	7	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.66G>T	p.Leu22Phe	p.L22F	ENST00000532498	2/9	59	48	11	48	48	0	strelka-varscan-mutect	TSPAN19,missense_variant,p.Leu22Phe,ENST00000532498,NM_001100917.1;TSPAN19,missense_variant,p.Leu22Phe,ENST00000547836,;TSPAN19,intron_variant,,ENST00000547403,;TSPAN19,missense_variant,p.Leu22Phe,ENST00000552392,;TSPAN19,missense_variant,p.Leu22Phe,ENST00000433494,;TSPAN19,splice_region_variant,,ENST00000532628,;	A	ENST00000532498	Transcript	missense_variant,splice_region_variant	147/998	66/747	22/248	L/F	ttG/ttT		1		-1	TSPAN19	HGNC	HGNC:31886	protein_coding	YES	CCDS44949.1	ENSP00000433816	P0C672		UPI000003F7BD	NM_001100917.1	deleterious(0)		2/9		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR19282:SF211,hmmpanther:PTHR19282,PIRSF_domain:PIRSF002419,Pfam_domain:PF00335,Prints_domain:PR00259																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	85029881	85029881	C	A	1	0	0	0	0	1	0	0	0	17148	608	21	2		2	TSPAN19	12	85029881	Missense_Mutation	SNP	C	C3N-00580_TP	2133707	85029881	48245428	716	20176											
C12orf29	0	.	GRCh38	chr12	88046891	88046891	+	Missense_Mutation	SNP	A	A	G																															tctaccttcattgaagcacaAtgatctcgtgtcctggtttg																								rs750066464		C3N-00580_TP	C3N-00580_NB	A	A																c.704A>G	p.Asn235Ser	p.N235S	ENST00000356891	6/7	102	94	8	146	146	0	strelka-varscan	C12orf29,missense_variant,p.Asn235Ser,ENST00000356891,NM_001009894.2;CEP290,downstream_gene_variant,,ENST00000552810,NM_025114.3;CEP290,downstream_gene_variant,,ENST00000309041,;CEP290,downstream_gene_variant,,ENST00000547691,;RNA5SP364,upstream_gene_variant,,ENST00000516938,;C12orf29,non_coding_transcript_exon_variant,,ENST00000548757,;C12orf29,downstream_gene_variant,,ENST00000549345,;C12orf29,3_prime_UTR_variant,,ENST00000550333,;C12orf29,3_prime_UTR_variant,,ENST00000552121,;C12orf29,3_prime_UTR_variant,,ENST00000453037,;C12orf29,non_coding_transcript_exon_variant,,ENST00000548511,;C12orf29,non_coding_transcript_exon_variant,,ENST00000547468,;C12orf29,downstream_gene_variant,,ENST00000552847,;C12orf29,downstream_gene_variant,,ENST00000552803,;	G	ENST00000356891	Transcript	missense_variant	907/2919	704/978	235/325	N/S	aAt/aGt	rs750066464,COSM1364695	1		1	C12orf29	HGNC	HGNC:25322	protein_coding	YES	CCDS31866.1	ENSP00000349358	Q8N999		UPI000019908D	NM_001009894.2	tolerated(0.89)		6/7		hmmpanther:PTHR31219:SF2,hmmpanther:PTHR31219											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												G	3	3	62	88046891	88046891	A	G	1	0	0	0	0	1	0	0	0	1807	101	4	5		5	C12orf29	12	88046891	Missense_Mutation	SNP	A	C3N-00580_TP	3017010	88046891	45228418	717	20177	427	2									
C12orf29	0	.	GRCh38	chr12	88046901	88046901	+	Silent	SNP	G	G	T																															ttgaagcacaatgatctcgtGtcctggtttgaagattgcaa																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.714G>T	p.=	p.V238V	ENST00000356891	6/7	98	90	8	145	145	0	strelka-varscan	C12orf29,synonymous_variant,p.=,ENST00000356891,NM_001009894.2;CEP290,downstream_gene_variant,,ENST00000552810,NM_025114.3;CEP290,downstream_gene_variant,,ENST00000309041,;CEP290,downstream_gene_variant,,ENST00000547691,;RNA5SP364,upstream_gene_variant,,ENST00000516938,;C12orf29,non_coding_transcript_exon_variant,,ENST00000548757,;C12orf29,downstream_gene_variant,,ENST00000549345,;C12orf29,3_prime_UTR_variant,,ENST00000550333,;C12orf29,3_prime_UTR_variant,,ENST00000552121,;C12orf29,3_prime_UTR_variant,,ENST00000453037,;C12orf29,non_coding_transcript_exon_variant,,ENST00000548511,;C12orf29,non_coding_transcript_exon_variant,,ENST00000547468,;C12orf29,downstream_gene_variant,,ENST00000552847,;C12orf29,downstream_gene_variant,,ENST00000552803,;	T	ENST00000356891	Transcript	synonymous_variant	917/2919	714/978	238/325	V	gtG/gtT		1		1	C12orf29	HGNC	HGNC:25322	protein_coding	YES	CCDS31866.1	ENSP00000349358	Q8N999		UPI000019908D	NM_001009894.2			6/7		hmmpanther:PTHR31219:SF2,hmmpanther:PTHR31219																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	88046901	88046901	G	T	1	0	0	0	0	0	0	0	1	1807	1364	48	2		2	C12orf29	12	88046901	Silent	SNP	G	C3N-00580_TP	10	88046901	45228408	718	20178	427	2									
CCER1	0	.	GRCh38	chr12	90954352	90954352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggggcttcacccagccagGgttccaggacccgctccagc	6	6	13	16	1	1	0	1	0	0	0	3	1	3	1	5	4	2	3	5	4	0	2			C3N-00580_TP	C3N-00580_NB	G	G																c.391C>A	p.Pro131Thr	p.P131T	ENST00000358859	1/1	161	95	66	150	150	0	strelka-varscan-mutect	CCER1,missense_variant,p.Pro131Thr,ENST00000358859,NM_152638.3;CCER1,intron_variant,,ENST00000548187,;CCER1,upstream_gene_variant,,ENST00000549707,;	T	ENST00000358859	Transcript	missense_variant	825/2962	391/1221	131/406	P/T	Cct/Act	COSM1606744	1		-1	CCER1	HGNC	HGNC:28373	protein_coding	YES	CCDS9036.1	ENSP00000351727	Q8TC90		UPI000006EE70	NM_152638.3	deleterious(0)		1/1		hmmpanther:PTHR37337:SF1,hmmpanther:PTHR37337,Pfam_domain:PF15482											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	62	90954352	90954352	G	T	1	0	0	0	0	1	0	0	0	2574	1232	43	2		2	CCER1	12	90954352	Missense_Mutation	SNP	G	C3N-00580_TP	2907451	90954352	42320957	719	20179											
TMPO	0	.	GRCh38	chr12	98533699	98533699	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtggctaagcaatcacAgcatgataaaatagatgcct	17	8	9	7	0	1	3	1	1	0	2	1	3	1	3	1	1	3	3	1	1	6	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1442A>T	p.Gln481Leu	p.Q481L	ENST00000266732	4/4	679	463	216	645	645	0	strelka-varscan-mutect	TMPO,missense_variant,p.Gln481Leu,ENST00000266732,NM_003276.2;TMPO,intron_variant,,ENST00000556029,NM_001032283.2;TMPO,intron_variant,,ENST00000343315,NM_001307975.1;TMPO,intron_variant,,ENST00000393053,NM_001032284.2;TMPO,intron_variant,,ENST00000261210,;TMPO,intron_variant,,ENST00000556678,;TMPO,downstream_gene_variant,,ENST00000547214,;TMPO,downstream_gene_variant,,ENST00000549938,;TMPO,downstream_gene_variant,,ENST00000546828,;TMPO,intron_variant,,ENST00000552831,;	T	ENST00000266732	Transcript	missense_variant	1680/3615	1442/2085	481/694	Q/L	cAg/cTg		1		1	TMPO	HGNC	HGNC:11875	protein_coding	YES	CCDS9064.1	ENSP00000266732	P42166		UPI000013D709	NM_003276.2	deleterious_low_confidence(0)		4/4		hmmpanther:PTHR12019,hmmpanther:PTHR12019:SF10,Pfam_domain:PF11560																	MODERATE	1	SNV	1			1										PASS		rs1167615537	.												T	3	4	62	98533699	98533699	A	T	1	0	0	0	0	1	0	0	0	16713	188	7	4		4	TMPO	12	98533699	Missense_Mutation	SNP	A	C3N-00580_TP	7579347	98533699	34741610	720	20180											
ANKS1B	0	.	GRCh38	chr12	99806485	99806485	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcagcaaggtgaagtggCgtgtgcttgcgagtgttgca	7	9	17	8	4	0	1	0	1	0	0	0	2	0	1	0	2	4	5	0	2	2	2	rs565638822		C3N-00580_TP	C3N-00580_NB	C	C																c.588G>A	p.=	p.T196T	ENST00000547776	4/26	421	365	56	373	372	1	strelka-varscan-mutect	ANKS1B,synonymous_variant,p.=,ENST00000547776,NM_152788.4;ANKS1B,synonymous_variant,p.=,ENST00000549866,;ANKS1B,synonymous_variant,p.=,ENST00000329257,;ANKS1B,intron_variant,,ENST00000547010,;	T	ENST00000547776	Transcript	synonymous_variant	588/3885	588/3747	196/1248	T	acG/acA	rs565638822,COSM3739361,COSM4661979	1		-1	ANKS1B	HGNC	HGNC:24600	protein_coding	YES	CCDS55872.1	ENSP00000449629	Q7Z6G8		UPI00003FE521	NM_152788.4			4/26		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3,SMART_domains:SM00248,Superfamily_domains:SSF48403											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs565638822	.												T	2	4	62	99806485	99806485	C	T	1	0	0	0	0	0	0	0	1	795	755	27	1		1	ANKS1B	12	99806485	Silent	SNP	C	C3N-00580_TP	1272786	99806485	33468824	721	20181											
GNPTAB	0	.	GRCh38	chr12	101764492	101764492	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcttgctgtggtctccaagtCcaggggtggattctgaccct	5	13	12	11	0	3	1	0	1	3	0	5	2	4	2	3	4	1	1	3	4	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2425G>C	p.Asp809His	p.D809H	ENST00000299314	13/21	143	100	43	110	110	0	strelka-varscan-mutect	GNPTAB,missense_variant,p.Asp809His,ENST00000299314,NM_024312.4;GNPTAB,downstream_gene_variant,,ENST00000549940,;GNPTAB,upstream_gene_variant,,ENST00000550718,;RNU6-101P,downstream_gene_variant,,ENST00000410323,;GNPTAB,downstream_gene_variant,,ENST00000552009,;GNPTAB,upstream_gene_variant,,ENST00000549194,;	G	ENST00000299314	Transcript	missense_variant	2688/5701	2425/3771	809/1256	D/H	Gac/Cac		1		-1	GNPTAB	HGNC	HGNC:29670	protein_coding	YES	CCDS9088.1	ENSP00000299314	Q3T906		UPI000004CC0C	NM_024312.4	tolerated(0.12)		13/21		Pfam_domain:PF06464,SMART_domains:SM01137																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	101764492	101764492	C	G	1	0	0	0	0	1	0	0	0	6424	855	30	4		4	GNPTAB	12	101764492	Missense_Mutation	SNP	C	C3N-00580_TP	1958007	101764492	31510817	722	20182											
GLT8D2	0	.	GRCh38	chr12	103993392	103993392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtttttctgaaatacttacCcaggtgccttatgtgccaca	10	14	7	10	0	1	1	0	1	1	0	1	1	1	1	3	1	4	1	3	1	4	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.880G>A	p.Gly294Ser	p.G294S	ENST00000360814	10/11	210	179	31	281	281	0	strelka-varscan-mutect	GLT8D2,missense_variant,p.Gly294Ser,ENST00000360814,NM_031302.3;GLT8D2,missense_variant,p.Gly294Ser,ENST00000548660,;GLT8D2,missense_variant,p.Gly294Ser,ENST00000546436,;TDG,downstream_gene_variant,,ENST00000392872,NM_003211.4;GLT8D2,downstream_gene_variant,,ENST00000552572,;	T	ENST00000360814	Transcript	missense_variant,splice_region_variant	1286/1880	880/1050	294/349	G/S	Ggc/Agc		1		-1	GLT8D2	HGNC	HGNC:24890	protein_coding	YES	CCDS9096.1	ENSP00000354053	Q9H1C3		UPI000004B633	NM_031302.3	deleterious(0.01)		10/11		Gene3D:3.90.550.10,Pfam_domain:PF01501,hmmpanther:PTHR13778,hmmpanther:PTHR13778:SF2,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	103993392	103993392	C	T	1	0	0	0	0	1	0	0	0	6347	637	22	3		3	GLT8D2	12	103993392	Missense_Mutation	SNP	C	C3N-00580_TP	2228900	103993392	29281917	723	20183											
BTBD11	0	.	GRCh38	chr12	107610322	107610322	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggcagtgtctctgctGgggcccgatgggatcaacac	9	7	14	11	1	2	0	1	0	1	0	3	2	2	1	1	4	3	3	1	4	2	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1776G>T	p.=	p.L592L	ENST00000280758	5/17	319	256	63	229	229	0	strelka-varscan-mutect	BTBD11,synonymous_variant,p.=,ENST00000280758,NM_001018072.1;BTBD11,synonymous_variant,p.=,ENST00000490090,;BTBD11,synonymous_variant,p.=,ENST00000357167,NM_001017523.1;BTBD11,synonymous_variant,p.=,ENST00000420571,;BTBD11,synonymous_variant,p.=,ENST00000415943,;BTBD11,downstream_gene_variant,,ENST00000550706,;RP11-128P10.1,non_coding_transcript_exon_variant,,ENST00000548473,;	T	ENST00000280758	Transcript	synonymous_variant	2304/5767	1776/3315	592/1104	L	ctG/ctT		1		1	BTBD11	HGNC	HGNC:23844	protein_coding	YES	CCDS31893.1	ENSP00000280758	A6QL63		UPI000051901E	NM_001018072.1			5/17		Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	LOW		SNV	5			1										PASS		rs1478456203	.												T	2	4	62	107610322	107610322	G	T	1	0	0	0	0	0	0	0	1	1714	1335	47	2		2	BTBD11	12	107610322	Silent	SNP	G	C3N-00580_TP	3616930	107610322	25664987	724	20184											
SELPLG	0	.	GRCh38	chr12	108623194	108623194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagagggcccctcaccccCatcaggcaacagggatgaga	11	3	13	14	0	2	2	2	1	0	2	2	4	2	3	4	4	1	2	4	4	1	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1162G>T	p.Gly388Trp	p.G388W	ENST00000228463	2/2	113	69	44	102	102	0	strelka-varscan-mutect	SELPLG,missense_variant,p.Gly372Trp,ENST00000550948,NM_003006.4;SELPLG,missense_variant,p.Gly388Trp,ENST00000228463,NM_001206609.1;SELPLG,missense_variant,p.Gly362Trp,ENST00000388962,;	A	ENST00000228463	Transcript	missense_variant	1339/1704	1162/1287	388/428	G/W	Ggg/Tgg		1		-1	SELPLG	HGNC	HGNC:10722	protein_coding	YES	CCDS55881.1	ENSP00000228463	Q14242		UPI0002065776	NM_001206609.1	deleterious(0)		2/2		hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	62	108623194	108623194	C	A	1	0	0	0	0	1	0	0	0	14297	594	21	2		2	SELPLG	12	108623194	Missense_Mutation	SNP	C	C3N-00580_TP	1012872	108623194	24652115	725	20185											
IFT81	0	.	GRCh38	chr12	110128048	110128048	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcaatttctttgttagcaActtgtggatatcagagagga	11	16	9	5	0	3	1	2	0	1	1	3	4	3	3	0	2	2	2	0	2	4	6	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.147A>T	p.Gln49His	p.Q49H	ENST00000242591	3/19	171	141	30	147	147	0	strelka-varscan-mutect	IFT81,missense_variant,p.Gln49His,ENST00000242591,NM_014055.3;IFT81,missense_variant,p.Gln49His,ENST00000361948,NM_031473.3;IFT81,missense_variant,p.Gln49His,ENST00000552912,NM_001143779.1;IFT81,missense_variant,p.Gln49His,ENST00000546374,;IFT81,missense_variant,p.Gln19His,ENST00000550156,;IFT81,upstream_gene_variant,,ENST00000551273,;	T	ENST00000242591	Transcript	missense_variant,splice_region_variant	653/3108	147/2031	49/676	Q/H	caA/caT		1		1	IFT81	HGNC	HGNC:14313	protein_coding	YES	CCDS41831.1	ENSP00000242591	Q8WYA0	A0A024RBJ1	UPI000000D78F	NM_014055.3	tolerated(0.7)		3/19		hmmpanther:PTHR15614,hmmpanther:PTHR15614:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	110128048	110128048	A	T	1	0	0	0	0	1	0	0	0	7471	57	2	4		4	IFT81	12	110128048	Missense_Mutation	SNP	A	C3N-00580_TP	1504854	110128048	23147261	726	20186											
CUX2	0	.	GRCh38	chr12	111310439	111310439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggggcagaggaggagcagCtggacacggcagagatcgcc	10	2	18	11	3	0	2	0	0	0	2	1	6	0	5	2	6	2	4	2	6	0	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1657C>A	p.Leu553Met	p.L553M	ENST00000261726	15/22	181	144	37	128	128	0	strelka-varscan-mutect	CUX2,missense_variant,p.Leu553Met,ENST00000261726,NM_015267.3;	A	ENST00000261726	Transcript	missense_variant	1811/6844	1657/4461	553/1486	L/M	Ctg/Atg		1		1	CUX2	HGNC	HGNC:19347	protein_coding	YES	CCDS41837.1	ENSP00000261726	O14529		UPI00001FBB07	NM_015267.3	tolerated(0.34)		15/22		PROSITE_profiles:PS51042,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5,Gene3D:1.10.260.40,Pfam_domain:PF02376,SMART_domains:SM01109,Superfamily_domains:SSF47413																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	111310439	111310439	C	A	1	0	0	0	0	1	0	0	0	3875	796	28	2		2	CUX2	12	111310439	Missense_Mutation	SNP	C	C3N-00580_TP	1182391	111310439	21964870	727	20187											
ALDH2	0	.	GRCh38	chr12	111803903	111803903	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcccagtcaccctttggtgGctacaagatgtcggggagtg	8	9	14	10	1	1	1	1	0	0	1	2	2	1	2	2	4	2	1	2	4	2	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1451G>C	p.Gly484Ala	p.G484A	ENST00000261733	12/13	169	136	33	203	203	0	strelka-varscan-mutect	ALDH2,missense_variant,p.Gly484Ala,ENST00000261733,NM_000690.3;ALDH2,missense_variant,p.Gly437Ala,ENST00000416293,NM_001204889.1;MIR6761,downstream_gene_variant,,ENST00000617899,;ALDH2,3_prime_UTR_variant,,ENST00000548536,;ALDH2,3_prime_UTR_variant,,ENST00000549106,;	C	ENST00000261733	Transcript	missense_variant	1512/9569	1451/1554	484/517	G/A	gGc/gCc		1		1	ALDH2	HGNC	HGNC:404	protein_coding	YES	CCDS9155.1	ENSP00000261733	P05091		UPI0000129293	NM_000690.3	deleterious(0)		12/13		Pfam_domain:PF00171,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF211,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	111803903	111803903	G	C	1	0	0	0	0	1	0	0	0	596	1203	42	4		4	ALDH2	12	111803903	Missense_Mutation	SNP	G	C3N-00580_TP	493464	111803903	21471406	728	20188											
OAS2	0	.	GRCh38	chr12	112987376	112987376	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacagctctgtgcaacctCtaggccatgagtgggataga	11	8	12	10	0	2	3	0	1	2	2	2	4	2	4	2	2	3	2	2	2	3	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.516C>A	p.=	p.L172L	ENST00000449768	2/2	65	36	29	45	45	0	strelka-varscan-mutect	OAS2,synonymous_variant,p.=,ENST00000449768,NM_001032731.1;OAS2,intron_variant,,ENST00000392583,NM_002535.2;OAS2,intron_variant,,ENST00000342315,NM_016817.2;OAS2,intron_variant,,ENST00000620097,;OAS2,intron_variant,,ENST00000552756,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS2,intron_variant,,ENST00000551603,;	A	ENST00000449768	Transcript	synonymous_variant	643/2072	516/519	172/172	L	ctC/ctA		1		1	OAS2	HGNC	HGNC:8087	protein_coding		CCDS44982.1	ENSP00000411763	P29728		UPI00001BDA97	NM_001032731.1			2/2																			LOW		SNV	1			1										PASS		rs1217498705	.												A	2	1	62	112987376	112987376	C	A	1	0	0	0	0	0	0	0	1	10879	900	32	2		2	OAS2	12	112987376	Silent	SNP	C	C3N-00580_TP	1183473	112987376	20287933	729	20189											
RASAL1	0	.	GRCh38	chr12	113128180	113128180	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagacagtagctgtccTgcaaaaggaggtgcaggggg	10	6	15	10	0	0	1	0	0	0	1	2	2	2	2	3	4	3	4	3	4	3	1	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.123-2A>T		p.X41_splice	ENST00000546530		155	96	59	124	124	0	strelka-varscan-mutect	RASAL1,splice_acceptor_variant,,ENST00000546530,NM_001193520.1;RASAL1,splice_acceptor_variant,,ENST00000261729,NM_004658.2;RASAL1,splice_acceptor_variant,,ENST00000446861,NM_001193521.1;RASAL1,splice_acceptor_variant,,ENST00000548055,NM_001301202.1;RASAL1,splice_acceptor_variant,,ENST00000418411,;RASAL1,splice_acceptor_variant,,ENST00000548972,;RASAL1,intron_variant,,ENST00000547810,;RASAL1,splice_acceptor_variant,,ENST00000551051,;RASAL1,splice_acceptor_variant,,ENST00000546727,;	A	ENST00000546530	Transcript	splice_acceptor_variant	-/3817	123/2421	41/806				1		-1	RASAL1	HGNC	HGNC:9873	protein_coding	YES	CCDS55889.1	ENSP00000450244	O95294		UPI0001DD37FE	NM_001193520.1				3/21																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	62	113128180	113128180	T	A	1	0	0	0	0	0	0	1	0	13224	1594	55	4		4	RASAL1	12	113128180	Splice_Site	SNP	T	C3N-00580_TP	140804	113128180	20147129	730	20190											
SDS	0	.	GRCh38	chr12	113397287	113397287	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccacctcctgcagcccctgGaccactccacacagcaggcc	8	4	7	22	0	0	0	0	0	0	0	2	1	2	1	8	2	3	2	8	2	0	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.531C>A	p.=	p.V177V	ENST00000257549	6/8	304	178	126	284	283	1	strelka-varscan-mutect	SDS,missense_variant,p.Pro87Thr,ENST00000552280,;SDS,synonymous_variant,p.=,ENST00000257549,NM_006843.2;SDS,downstream_gene_variant,,ENST00000547342,;SDS,non_coding_transcript_exon_variant,,ENST00000553112,;SDS,downstream_gene_variant,,ENST00000546639,;SDS,downstream_gene_variant,,ENST00000546785,;	T	ENST00000257549	Transcript	synonymous_variant	654/1606	531/987	177/328	V	gtC/gtA		1		-1	SDS	HGNC	HGNC:10691	protein_coding	YES	CCDS9169.1	ENSP00000257549	P20132		UPI000013CF6B	NM_006843.2			6/8		Low_complexity_(Seg):seg,hmmpanther:PTHR10314:SF103,hmmpanther:PTHR10314,Pfam_domain:PF00291,Gene3D:3.40.50.1100,Superfamily_domains:SSF53686																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	62	113397287	113397287	G	T	1	0	0	0	0	0	0	0	1	14251	1161	41	2		2	SDS	12	113397287	Silent	SNP	G	C3N-00580_TP	269107	113397287	19878022	731	20191											
RBM19	0	.	GRCh38	chr12	113957997	113957997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcttggatttcaggtaatCcatgtccgacagctccttct	8	14	7	12	1	3	0	1	0	2	0	6	2	6	1	3	2	1	2	3	2	1	4	rs757503823		C3N-00580_TP	C3N-00580_NB	C	C																c.625G>T	p.Asp209Tyr	p.D209Y	ENST00000545145	6/25	143	83	60	129	129	0	strelka-varscan-mutect	RBM19,missense_variant,p.Asp209Tyr,ENST00000545145,NM_001146699.1;RBM19,missense_variant,p.Asp209Tyr,ENST00000261741,NM_016196.3;RBM19,missense_variant,p.Asp209Tyr,ENST00000392561,NM_001146698.1;RBM19,non_coding_transcript_exon_variant,,ENST00000546876,;	A	ENST00000545145	Transcript	missense_variant	704/4422	625/2883	209/960	D/Y	Gat/Tat	rs757503823	1		-1	RBM19	HGNC	HGNC:29098	protein_coding	YES	CCDS9172.1	ENSP00000442053	Q9Y4C8		UPI000013D1EC	NM_001146699.1	deleterious(0)		6/25																			MODERATE	1	SNV	2			1										PASS		rs757503823	.												A	3	1	62	113957997	113957997	C	A	1	0	0	0	0	1	0	0	0	13286	855	30	2		2	RBM19	12	113957997	Missense_Mutation	SNP	C	C3N-00580_TP	560710	113957997	19317312	732	20192											
NOS1	0	.	GRCh38	chr12	117311540	117311540	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccataggtcattgaagactcGgtcgttctccacgccgaggg	8	9	12	12	4	2	2	1	1	1	1	5	3	2	2	3	3	0	1	3	3	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.778C>A	p.=	p.R260R	ENST00000618760	3/30	194	108	86	158	158	0	strelka-varscan-mutect	NOS1,synonymous_variant,p.=,ENST00000618760,NM_001204218.1;NOS1,synonymous_variant,p.=,ENST00000317775,NM_001204214.1,NM_000620.4,NM_001204213.1;NOS1,synonymous_variant,p.=,ENST00000338101,;NOS1,synonymous_variant,p.=,ENST00000344089,;	T	ENST00000618760	Transcript	synonymous_variant	1489/12283	778/4407	260/1468	R	Cga/Aga		1		-1	NOS1	HGNC	HGNC:7872	protein_coding	YES	CCDS55890.1	ENSP00000477999	P29475		UPI00001FBC10	NM_001204218.1			3/30		PIRSF_domain:PIRSF000333																	LOW	1	SNV	5			1										PASS		rs1245846929	.												T	2	4	62	117311540	117311540	G	T	1	0	0	0	0	0	0	0	1	10586	1124	39	1		1	NOS1	12	117311540	Silent	SNP	G	C3N-00580_TP	3353543	117311540	15963769	733	20193											
SETD1B	0	.	GRCh38	chr12	121827571	121827571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccgggcaggctcggagcGgcgttcggagcagcgccgcc	5	3	17	16	7	0	0	0	0	0	0	2	2	0	2	3	5	3	4	3	5	0	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.5261G>T	p.Arg1754Leu	p.R1754L	ENST00000542440	15/18	171	146	25	188	188	0	strelka-varscan-mutect	SETD1B,missense_variant,p.Arg1754Leu,ENST00000542440,NM_015048.1;SETD1B,missense_variant,p.Arg1797Leu,ENST00000604567,;SETD1B,missense_variant,p.Arg1797Leu,ENST00000619791,;SETD1B,missense_variant,p.Arg1754Leu,ENST00000267197,;	T	ENST00000542440	Transcript	missense_variant	5329/8185	5261/5772	1754/1923	R/L	cGg/cTg		1		1	SETD1B	HGNC	HGNC:29187	protein_coding	YES	CCDS53838.1	ENSP00000442924	Q9UPS6		UPI00006C12ED	NM_015048.1	tolerated(0.16)		15/18		Pfam_domain:PF11764,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF296,Low_complexity_(Seg):seg,SMART_domains:SM01291																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	121827571	121827571	G	T	1	0	0	0	0	1	0	0	0	14408	1116	39	1		1	SETD1B	12	121827571	Missense_Mutation	SNP	G	C3N-00580_TP	4516031	121827571	11447738	734	20194											
VPS33A	0	.	GRCh38	chr12	122232420	122232420	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcactcggttttctccCggttgacctaaaatttaaac	11	13	7	10	2	2	2	1	1	1	1	4	2	2	2	2	2	1	2	2	2	4	6	rs765167095		C3N-00580_TP	C3N-00580_NB	C	C																c.1617G>T	p.=	p.P539P	ENST00000267199	13/13	164	79	85	135	135	0	strelka-varscan-mutect	VPS33A,synonymous_variant,p.=,ENST00000267199,NM_022916.4;DIABLO,upstream_gene_variant,,ENST00000443649,NM_019887.5;DIABLO,upstream_gene_variant,,ENST00000485724,;VPS33A,downstream_gene_variant,,ENST00000541169,;DIABLO,upstream_gene_variant,,ENST00000475784,;RP11-512M8.5,synonymous_variant,p.=,ENST00000535844,;VPS33A,3_prime_UTR_variant,,ENST00000543633,;	A	ENST00000267199	Transcript	synonymous_variant	1730/4586	1617/1791	539/596	P	ccG/ccT	rs765167095	1		-1	VPS33A	HGNC	HGNC:18179	protein_coding	YES	CCDS9231.1	ENSP00000267199	Q96AX1		UPI000000D7AA	NM_022916.4			13/13		hmmpanther:PTHR11679:SF36,hmmpanther:PTHR11679,Gene3D:3.40.50.1910,Pfam_domain:PF00995,Superfamily_domains:SSF56815																	LOW	1	SNV	1			1										PASS		rs765167095	.												A	2	1	62	122232420	122232420	C	A	1	0	0	0	0	0	0	0	1	17747	639	23	1		1	VPS33A	12	122232420	Silent	SNP	C	C3N-00580_TP	404849	122232420	11042889	735	20195											
KMT5A	0	.	GRCh38	chr12	123390732	123390732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaactcagttacacatCacgaagtcaaatgccagggg	16	6	10	9	1	3	1	3	0	0	1	3	3	3	1	1	2	3	1	1	2	5	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.235C>A	p.His79Asn	p.H79N	ENST00000402868	3/8	397	341	56	450	448	2	strelka-varscan-mutect	KMT5A,missense_variant,p.His79Asn,ENST00000402868,NM_020382.3;KMT5A,missense_variant,p.His49Asn,ENST00000330479,;KMT5A,missense_variant,p.His70Asn,ENST00000437502,;KMT5A,non_coding_transcript_exon_variant,,ENST00000478781,;KMT5A,upstream_gene_variant,,ENST00000485469,;KMT5A,downstream_gene_variant,,ENST00000537270,;KMT5A,stop_gained,p.Ser38Ter,ENST00000437519,;KMT5A,non_coding_transcript_exon_variant,,ENST00000461103,;KMT5A,non_coding_transcript_exon_variant,,ENST00000462311,;	A	ENST00000402868	Transcript	missense_variant	661/3140	235/1059	79/352	H/N	Cac/Aac		1		1	KMT5A	HGNC	HGNC:29489	protein_coding	YES	CCDS9247.1	ENSP00000384629	Q9NQR1		UPI000002B371	NM_020382.3	tolerated(0.06)		3/8		PIRSF_domain:PIRSF027717,PROSITE_profiles:PS51571																	MODERATE	1	SNV	1			1										PASS		rs1452212440	.												A	3	1	62	123390732	123390732	C	A	1	0	0	0	0	1	0	0	0	8300	826	29	2		2	KMT5A	12	123390732	Missense_Mutation	SNP	C	C3N-00580_TP	1158312	123390732	9884577	736	20196											
ATP6V0A2	0	.	GRCh38	chr12	123756973	123756973	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgcgtttcttcacgccAtacgcctccactggtgagtt	5	15	8	13	3	3	1	1	1	2	0	4	1	4	1	3	1	2	2	3	1	1	5	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.2452A>G	p.Ile818Val	p.I818V	ENST00000330342	19/20	444	407	37	475	475	0	strelka-varscan-mutect	ATP6V0A2,missense_variant,p.Ile818Val,ENST00000330342,NM_012463.3;ATP6V0A2,missense_variant,p.Ile98Val,ENST00000534943,;ATP6V0A2,missense_variant,p.Ile100Val,ENST00000544833,;ATP6V0A2,non_coding_transcript_exon_variant,,ENST00000543687,;RP11-338K17.10,upstream_gene_variant,,ENST00000623681,;	G	ENST00000330342	Transcript	missense_variant	2700/6542	2452/2571	818/856	I/V	Ata/Gta		1		1	ATP6V0A2	HGNC	HGNC:18481	protein_coding	YES	CCDS9254.1	ENSP00000332247	Q9Y487		UPI00001AFC09	NM_012463.3	deleterious(0.03)		19/20		hmmpanther:PTHR11629:SF22,hmmpanther:PTHR11629,Pfam_domain:PF01496,PIRSF_domain:PIRSF001293																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	123756973	123756973	A	G	1	0	0	0	0	1	0	0	0	1322	217	8	5		5	ATP6V0A2	12	123756973	Missense_Mutation	SNP	A	C3N-00580_TP	366241	123756973	9518336	737	20197											
TMEM132D	0	.	GRCh38	chr12	129700431	129700431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttgttggtgaatccaaatGggttggaaggtagcattaaa	13	13	12	3	0	0	1	0	1	0	0	1	2	1	2	1	4	1	4	1	4	6	5	rs777436470		C3N-00580_TP	C3N-00580_NB	G	G																c.347C>A	p.Pro116Gln	p.P116Q	ENST00000422113	2/9	453	362	91	377	377	0	strelka-varscan-mutect	TMEM132D,missense_variant,p.Pro116Gln,ENST00000422113,NM_133448.2;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	T	ENST00000422113	Transcript	missense_variant	674/5776	347/3300	116/1099	P/Q	cCa/cAa	rs777436470	1		-1	TMEM132D	HGNC	HGNC:29411	protein_coding	YES	CCDS9266.1	ENSP00000408581	Q14C87		UPI000023759C	NM_133448.2	tolerated(0.08)		2/9		Pfam_domain:PF15705,hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF2																	MODERATE	1	SNV	1			1										PASS		rs777436470	.												T	3	4	62	129700431	129700431	G	T	1	0	0	0	0	1	0	0	0	16492	1348	47	2		2	TMEM132D	12	129700431	Missense_Mutation	SNP	G	C3N-00580_TP	5943458	129700431	3574878	738	20198											
POLE	0	.	GRCh38	chr12	132672275	132672275	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcaagggcgtggcgCaaggtcttctcaacccgctg	6	10	11	14	3	4	0	2	0	3	0	6	0	5	0	2	3	1	2	2	3	3	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1734G>T	p.Leu578Phe	p.L578F	ENST00000320574	16/49	322	181	141	372	372	0	strelka-varscan-mutect	POLE,missense_variant,p.Leu578Phe,ENST00000320574,NM_006231.3;POLE,missense_variant,p.Leu551Phe,ENST00000535270,;POLE,downstream_gene_variant,,ENST00000539215,;POLE,3_prime_UTR_variant,,ENST00000537064,;POLE,downstream_gene_variant,,ENST00000535934,;POLE,downstream_gene_variant,,ENST00000545015,;	A	ENST00000320574	Transcript	missense_variant	1778/7840	1734/6861	578/2286	L/F	ttG/ttT		1		-1	POLE	HGNC	HGNC:9177	protein_coding	YES	CCDS9278.1	ENSP00000322570	Q07864		UPI00001FBF97	NM_006231.3	deleterious(0)		16/49		hmmpanther:PTHR10670,SMART_domains:SM00486																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	132672275	132672275	C	A	1	0	0	0	0	1	0	0	0	12306	709	25	2		2	POLE	12	132672275	Missense_Mutation	SNP	C	C3N-00580_TP	2971844	132672275	603034	739	20199											
GOLGA3	0	.	GRCh38	chr12	132782323	132782323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaactggactaggtctgcCtccctcttggccaaagctgt	7	12	9	13	0	3	0	1	0	2	0	4	1	4	1	3	3	3	1	3	3	3	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.3438G>T	p.Glu1146Asp	p.E1146D	ENST00000204726	17/24	507	305	202	466	464	2	strelka-varscan-mutect	GOLGA3,missense_variant,p.Glu1146Asp,ENST00000204726,NM_005895.3;GOLGA3,missense_variant,p.Glu1146Asp,ENST00000450791,;GOLGA3,missense_variant,p.Glu1146Asp,ENST00000456883,;AC127070.1,downstream_gene_variant,,ENST00000545875,NM_001172557.1;GOLGA3,downstream_gene_variant,,ENST00000537452,;	A	ENST00000204726	Transcript	missense_variant	3997/9252	3438/4497	1146/1498	E/D	gaG/gaT		1		-1	GOLGA3	HGNC	HGNC:4426	protein_coding	YES	CCDS9281.1	ENSP00000204726	Q08378		UPI0000190979	NM_005895.3	deleterious(0)		17/24		hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF26																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	62	132782323	132782323	C	A	1	0	0	0	0	1	0	0	0	6432	680	24	2		2	GOLGA3	12	132782323	Missense_Mutation	SNP	C	C3N-00580_TP	110048	132782323	492986	740	20200											
ZNF140	0	.	GRCh38	chr12	133105902	133105902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaccttgtgaaacaccaaAtgatacatactggaaagaaa	20	7	6	8	0	0	3	0	2	0	1	0	4	0	4	2	1	4	0	2	1	7	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.625A>G	p.Met209Val	p.M209V	ENST00000355557	5/5	354	329	25	312	312	0	strelka-varscan-mutect	ZNF140,missense_variant,p.Met209Val,ENST00000355557,NM_003440.3;ZNF140,missense_variant,p.Met106Val,ENST00000544426,NM_001300776.1,NM_001300778.1,NM_001300777.1;ZNF140,3_prime_UTR_variant,,ENST00000440550,;ZNF891,downstream_gene_variant,,ENST00000537226,NM_001277291.1;ZNF140,downstream_gene_variant,,ENST00000429434,;ZNF140,downstream_gene_variant,,ENST00000356456,;ZNF140,downstream_gene_variant,,ENST00000319849,;ZNF140,downstream_gene_variant,,ENST00000412146,;ZNF140,3_prime_UTR_variant,,ENST00000536790,;ZNF140,downstream_gene_variant,,ENST00000392041,;	G	ENST00000355557	Transcript	missense_variant	1908/3550	625/1374	209/457	M/V	Atg/Gtg		1		1	ZNF140	HGNC	HGNC:12925	protein_coding	YES	CCDS9282.1	ENSP00000347755	P52738		UPI0000074687	NM_003440.3	deleterious(0)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF36,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	133105902	133105902	A	G	1	0	0	0	0	1	0	0	0	18310	101	4	5		5	ZNF140	12	133105902	Missense_Mutation	SNP	A	C3N-00580_TP	323579	133105902	169407	741	20201											
KBTBD7	0	.	GRCh38	chr13	41193232	41193232	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagatcaccatctccttGgcacacatacccagtctctg	12	9	6	14	0	3	2	1	0	2	2	5	2	3	2	3	1	1	1	3	1	3	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1026C>G	p.=	p.A342A	ENST00000379483	1/1	263	229	34	297	297	0	varscan-mutect	KBTBD7,synonymous_variant,p.=,ENST00000379483,NM_032138.4;RP11-74J13.8,intron_variant,,ENST00000619407,;RP11-74J13.8,downstream_gene_variant,,ENST00000615685,;	C	ENST00000379483	Transcript	synonymous_variant	1335/4734	1026/2055	342/684	A	gcC/gcG		1		-1	KBTBD7	HGNC	HGNC:25266	protein_coding	YES	CCDS9377.1	ENSP00000368797	Q8WVZ9		UPI0000071F8F	NM_032138.4			1/1		hmmpanther:PTHR24412:SF132,hmmpanther:PTHR24412,PIRSF_domain:PIRSF037037																	LOW		SNV				1										PASS		.	.												C	2	2	62	41193232	41193232	G	C	1	0	0	0	0	0	0	0	1	7914	1335	47	4		4	KBTBD7	13	41193232	Silent	SNP	G	C3N-00580_TP		41193232	73171096	742	20202											
KLHL1	0	.	GRCh38	chr13	69961338	69961338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaattggacaaggtcccagaGagcattggggtctatgcctt	11	10	12	8	0	1	1	0	0	1	1	2	3	2	2	2	4	2	1	2	4	3	4			C3N-00580_TP	C3N-00580_NB	G	G																c.787C>G	p.Leu263Val	p.L263V	ENST00000377844	3/11	182	77	105	187	187	0	strelka-varscan-mutect	KLHL1,missense_variant,p.Leu263Val,ENST00000377844,NM_020866.2;KLHL1,missense_variant,p.Leu202Val,ENST00000545028,NM_001286725.1;	C	ENST00000377844	Transcript	missense_variant	1547/4115	787/2247	263/748	L/V	Ctc/Gtc	COSM4854261	1		-1	KLHL1	HGNC	HGNC:6352	protein_coding	YES	CCDS9445.1	ENSP00000367075	Q9NR64		UPI000004B136	NM_020866.2	deleterious(0.02)		3/11		PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF75,hmmpanther:PTHR24412,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	62	69961338	69961338	G	C	1	0	0	0	0	1	0	0	0	8229	942	33	4		4	KLHL1	13	69961338	Missense_Mutation	SNP	G	C3N-00580_TP	28768106	69961338	44402990	743	20203											
TGDS	0	.	GRCh38	chr13	94581166	94581166	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcataaggatttgtaggttgTttgggtgaagattcatcaaa	12	14	12	3	0	2	2	2	1	0	1	2	3	2	3	0	3	0	4	0	3	4	6	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.480A>G	p.=	p.K160K	ENST00000261296	6/12	122	48	74	229	229	0	strelka-varscan-mutect	TGDS,synonymous_variant,p.=,ENST00000261296,NM_001304430.1,NM_014305.3;TGDS,non_coding_transcript_exon_variant,,ENST00000498294,;TGDS,non_coding_transcript_exon_variant,,ENST00000470480,;	C	ENST00000261296	Transcript	synonymous_variant	601/1905	480/1053	160/350	K	aaA/aaG		1		-1	TGDS	HGNC	HGNC:20324	protein_coding	YES	CCDS9471.1	ENSP00000261296	O95455		UPI000006E8F4	NM_001304430.1,NM_014305.3			6/12		hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF41,Pfam_domain:PF16363,Gene3D:3.40.50.720,Superfamily_domains:SSF51735																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	62	94581166	94581166	T	C	1	0	0	0	0	0	0	0	1	16247	1722	60	5		5	TGDS	13	94581166	Silent	SNP	T	C3N-00580_TP	24619828	94581166	19783162	744	20204											
DZIP1	0	.	GRCh38	chr13	95641672	95641672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgtccacgtcgatggCgctcagccgccgccagtcca	6	7	10	18	5	1	0	1	0	0	0	4	1	3	0	6	1	1	1	6	1	0	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.220G>T	p.Ala74Ser	p.A74S	ENST00000347108	3/21	148	67	81	154	154	0	strelka-varscan-mutect	DZIP1,missense_variant,p.Ala74Ser,ENST00000361396,NM_014934.4;DZIP1,missense_variant,p.Ala74Ser,ENST00000347108,;DZIP1,missense_variant,p.Ala74Ser,ENST00000361156,;DZIP1,missense_variant,p.Ala74Ser,ENST00000376829,NM_198968.3;DZIP1,non_coding_transcript_exon_variant,,ENST00000466027,;DZIP1,missense_variant,p.Ala120Ser,ENST00000466569,;	A	ENST00000347108	Transcript	missense_variant	653/7068	220/2604	74/867	A/S	Gcc/Tcc		1		-1	DZIP1	HGNC	HGNC:20908	protein_coding	YES	CCDS9478.1	ENSP00000257312	Q86YF9		UPI000000D9B8		deleterious(0.04)		3/21		hmmpanther:PTHR21502,hmmpanther:PTHR21502:SF5,Pfam_domain:PF13815																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	95641672	95641672	C	A	1	0	0	0	0	1	0	0	0	4687	768	27	1		1	DZIP1	13	95641672	Missense_Mutation	SNP	C	C3N-00580_TP	1060506	95641672	18722656	745	20205											
ITGBL1	0	.	GRCh38	chr13	101453937	101453937	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccgagtcggagcgacgctgCcgcgcacctgggcagccccc	5	3	15	18	6	0	0	0	0	0	0	1	3	0	1	5	2	3	3	5	2	0	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.153C>A	p.Cys51Ter	p.C51*	ENST00000376180	2/11	76	30	46	66	66	0	strelka-varscan-mutect	ITGBL1,stop_gained,p.Cys51Ter,ENST00000376180,NM_004791.2;ITGBL1,stop_gained,p.Cys51Ter,ENST00000618057,NM_001271755.1;ITGBL1,intron_variant,,ENST00000545560,NM_001271754.1;ITGBL1,intron_variant,,ENST00000622834,;	A	ENST00000376180	Transcript	stop_gained	372/2494	153/1485	51/494	C/*	tgC/tgA		1		1	ITGBL1	HGNC	HGNC:6164	protein_coding	YES	CCDS9499.1	ENSP00000365351	O95965	A0A024RDW7	UPI0000073C95	NM_004791.2			2/11																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	62	101453937	101453937	C	A	1	0	0	0	0	0	1	0	0	7808	747	26	2		2	ITGBL1	13	101453937	Nonsense_Mutation	SNP	C	C3N-00580_TP	5812265	101453937	12910391	746	20206											
OR4K15	0	.	GRCh38	chr14	19976001	19976001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactacatgacagtcatgagCcgtcgtgtatgtgttgtgct	8	13	11	9	2	1	2	1	2	0	0	2	2	1	2	1	0	3	3	1	0	2	3	rs373552565		C3N-00580_TP	C3N-00580_NB	C	C																c.483C>A	p.Ser161Arg	p.S161R	ENST00000305051	1/1	352	241	111	334	334	0	strelka-varscan-mutect	OR4K15,missense_variant,p.Ser161Arg,ENST00000305051,NM_001005486.1;	A	ENST00000305051	Transcript	missense_variant	558/1216	483/1047	161/348	S/R	agC/agA	rs373552565	1		1	OR4K15	HGNC	HGNC:15353	protein_coding	YES	CCDS32026.1	ENSP00000304077	Q8NH41		UPI000015F249	NM_001005486.1	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF287,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs373552565	.												A	3	1	62	19976001	19976001	C	A	1	0	0	0	0	1	0	0	0	11147	738	26	2		2	OR4K15	14	19976001	Missense_Mutation	SNP	C	C3N-00580_TP		19976001	87067717	747	20207											
OR4K17	0	.	GRCh38	chr14	20117837	20117837	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgggtggggttgaaatggTactgttggtctccatggctt	6	14	15	6	0	1	1	0	1	1	0	2	1	1	1	1	6	1	4	1	6	2	4	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.431T>A	p.Val144Glu	p.V144E	ENST00000315543	1/1	338	214	124	259	259	0	strelka-varscan-mutect	OR4K17,missense_variant,p.Val144Glu,ENST00000315543,NM_001004715.1;	A	ENST00000315543	Transcript	missense_variant	431/1032	431/1032	144/343	V/E	gTa/gAa		1		1	OR4K17	HGNC	HGNC:15355	protein_coding	YES	CCDS32030.1	ENSP00000319197	Q8NGC6	A0A126GVZ4	UPI000004B1EA	NM_001004715.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF322,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1333529363	.												A	3	1	62	20117837	20117837	T	A	1	0	0	0	0	1	0	0	0	11148	1638	57	4		4	OR4K17	14	20117837	Missense_Mutation	SNP	T	C3N-00580_TP	141836	20117837	86925881	748	20208											
OR4N5	0	.	GRCh38	chr14	20144253	20144253	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttctgtggcccaaaccAgctcgataacttcttctgtg	7	13	8	13	1	3	0	0	0	3	0	4	1	3	0	3	1	3	1	3	1	2	4	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.518A>T	p.Gln173Leu	p.Q173L	ENST00000333629	1/1	410	361	49	340	339	1	strelka-varscan-mutect	OR4N5,missense_variant,p.Gln173Leu,ENST00000333629,NM_001004724.1;PSMB7P1,upstream_gene_variant,,ENST00000556349,;	T	ENST00000333629	Transcript	missense_variant	518/927	518/927	173/308	Q/L	cAg/cTg		1		1	OR4N5	HGNC	HGNC:15358	protein_coding	YES	CCDS32031.1	ENSP00000332110	Q8IXE1	A0A126GVN4	UPI0000041C40	NM_001004724.1	tolerated(0.25)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF40,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1388585514	.												T	3	4	62	20144253	20144253	A	T	1	0	0	0	0	1	0	0	0	11155	188	7	4		4	OR4N5	14	20144253	Missense_Mutation	SNP	A	C3N-00580_TP	26416	20144253	86899465	749	20209											
PARP2	0	.	GRCh38	chr14	20351084	20351084	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcctggtggcttgttcAggcaatctcaacaaggccaa	11	8	10	12	0	2	0	2	0	1	0	3	0	2	0	2	4	2	3	2	4	4	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.498A>T	p.=	p.S166S	ENST00000250416	6/16	241	183	58	217	217	0	strelka-varscan-mutect	PARP2,synonymous_variant,p.=,ENST00000527915,;PARP2,synonymous_variant,p.=,ENST00000250416,NM_005484.3;PARP2,synonymous_variant,p.=,ENST00000429687,NM_001042618.1;PARP2,upstream_gene_variant,,ENST00000539930,;RP11-203M5.2,upstream_gene_variant,,ENST00000528210,;PARP2,upstream_gene_variant,,ENST00000555140,;PARP2,non_coding_transcript_exon_variant,,ENST00000528465,;PARP2,intron_variant,,ENST00000529465,;PARP2,upstream_gene_variant,,ENST00000532299,;PARP2,upstream_gene_variant,,ENST00000530598,;PARP2,upstream_gene_variant,,ENST00000534664,;PARP2,upstream_gene_variant,,ENST00000527384,;	T	ENST00000250416	Transcript	synonymous_variant	525/1886	498/1752	166/583	S	tcA/tcT		1		1	PARP2	HGNC	HGNC:272	protein_coding	YES	CCDS41910.1	ENSP00000250416	Q9UGN5		UPI0000035DCA	NM_005484.3			6/16		hmmpanther:PTHR10459:SF41,hmmpanther:PTHR10459,Gene3D:2ra8A01,Pfam_domain:PF05406,SMART_domains:SM00773,Superfamily_domains:0052256																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	20351084	20351084	A	T	1	0	0	0	0	0	0	0	1	11541	175	7	4		4	PARP2	14	20351084	Silent	SNP	A	C3N-00580_TP	206831	20351084	86692634	750	20210											
TEP1	0	.	GRCh38	chr14	20408303	20408303	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctaggcactggttcttcaagGagaggatatctgagtgggta	10	11	14	6	0	3	2	1	1	2	1	3	4	3	3	0	5	0	3	0	5	4	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.137C>G	p.Ser46Cys	p.S46C	ENST00000262715	2/55	451	403	48	418	418	0	strelka-varscan-mutect	TEP1,missense_variant,p.Ser46Cys,ENST00000262715,NM_007110.4;TEP1,missense_variant,p.Ser46Cys,ENST00000556935,;TEP1,missense_variant,p.Ser46Cys,ENST00000556549,;TEP1,missense_variant,p.Ser46Cys,ENST00000555727,;TEP1,upstream_gene_variant,,ENST00000557627,;	C	ENST00000262715	Transcript	missense_variant	178/10695	137/7884	46/2627	S/C	tCc/tGc		1		-1	TEP1	HGNC	HGNC:11726	protein_coding	YES	CCDS9548.1	ENSP00000262715	Q99973		UPI000013D30B	NM_007110.4	deleterious_low_confidence(0)		2/55		PROSITE_profiles:PS51226,Pfam_domain:PF05386																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	20408303	20408303	G	C	1	0	0	0	0	1	0	0	0	16175	1174	41	4		4	TEP1	14	20408303	Missense_Mutation	SNP	G	C3N-00580_TP	57219	20408303	86635415	751	20211											
SALL2	0	.	GRCh38	chr14	21523450	21523450	+	Nonsense_Mutation	SNP	C	C	A																															ctcctcctcagacaactcctCttccggtgatggctgctggg																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2278G>T	p.Glu760Ter	p.E760*	ENST00000614342	2/2	415	297	118	346	346	0	strelka-varscan-mutect	SALL2,stop_gained,p.Glu760Ter,ENST00000614342,NM_005407.2;SALL2,stop_gained,p.Glu623Ter,ENST00000450879,NM_001291447.1;SALL2,stop_gained,p.Glu619Ter,ENST00000546363,NM_001291446.1;SALL2,intron_variant,,ENST00000613414,;SALL2,intron_variant,,ENST00000611430,;SALL2,downstream_gene_variant,,ENST00000537235,;SALL2,downstream_gene_variant,,ENST00000541965,;AE000658.22,downstream_gene_variant,,ENST00000535893,;	A	ENST00000614342	Transcript	stop_gained	2573/4942	2278/3024	760/1007	E/*	Gag/Tag		1		-1	SALL2	HGNC	HGNC:10526	protein_coding	YES	CCDS32045.1	ENSP00000483562	Q9Y467		UPI0000135524	NM_005407.2			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF15																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	62	21523450	21523450	C	A	1	0	0	0	0	0	1	0	0	14070	922	32	2		2	SALL2	14	21523450	Nonsense_Mutation	SNP	C	C3N-00580_TP	1115147	21523450	85520268	752	20212	428	2									
SALL2	0	.	GRCh38	chr14	21523451	21523451	+	Missense_Mutation	SNP	T	T	A																															tcctcctcagacaactcctcTtccggtgatggctgctggga																								novel		C3N-00580_TP	C3N-00580_NB	T	T																c.2277A>T	p.Glu759Asp	p.E759D	ENST00000614342	2/2	414	298	116	343	343	0	strelka-varscan-mutect	SALL2,missense_variant,p.Glu759Asp,ENST00000614342,NM_005407.2;SALL2,missense_variant,p.Glu622Asp,ENST00000450879,NM_001291447.1;SALL2,missense_variant,p.Glu618Asp,ENST00000546363,NM_001291446.1;SALL2,intron_variant,,ENST00000613414,;SALL2,intron_variant,,ENST00000611430,;SALL2,downstream_gene_variant,,ENST00000537235,;SALL2,downstream_gene_variant,,ENST00000541965,;AE000658.22,downstream_gene_variant,,ENST00000535893,;	A	ENST00000614342	Transcript	missense_variant	2572/4942	2277/3024	759/1007	E/D	gaA/gaT		1		-1	SALL2	HGNC	HGNC:10526	protein_coding	YES	CCDS32045.1	ENSP00000483562	Q9Y467		UPI0000135524	NM_005407.2	tolerated(0.73)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	21523451	21523451	T	A	1	0	0	0	0	1	0	0	0	14070	1606	56	4		4	SALL2	14	21523451	Missense_Mutation	SNP	T	C3N-00580_TP	1	21523451	85520267	753	20213	428	2									
MMP14	0	.	GRCh38	chr14	22844728	22844728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctaccgacaagattgatGctgctctcttctggatgccc	7	12	9	13	1	2	2	0	1	2	1	3	4	2	3	3	1	5	2	3	1	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1249G>T	p.Ala417Ser	p.A417S	ENST00000311852	8/10	362	272	90	347	346	1	strelka-varscan-mutect	MMP14,missense_variant,p.Ala417Ser,ENST00000311852,NM_004995.3;MMP14,downstream_gene_variant,,ENST00000548761,;MMP14,non_coding_transcript_exon_variant,,ENST00000548162,;MMP14,downstream_gene_variant,,ENST00000547596,;MMP14,downstream_gene_variant,,ENST00000547074,;	T	ENST00000311852	Transcript	missense_variant	1510/3732	1249/1749	417/582	A/S	Gct/Tct		1		1	MMP14	HGNC	HGNC:7160	protein_coding	YES	CCDS9577.1	ENSP00000308208	P50281		UPI0000048136	NM_004995.3	tolerated(0.18)		8/10		PROSITE_profiles:PS51642,hmmpanther:PTHR10201:SF24,hmmpanther:PTHR10201,Gene3D:2.110.10.10,Pfam_domain:PF00045,PIRSF_domain:PIRSF001191,SMART_domains:SM00120,Superfamily_domains:SSF50923																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	22844728	22844728	G	T	1	0	0	0	0	1	0	0	0	9616	1319	46	2		2	MMP14	14	22844728	Missense_Mutation	SNP	G	C3N-00580_TP	1321277	22844728	84198990	754	20214											
MYH6	0	.	GRCh38	chr14	23397027	23397027	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcagatgcggatgccctCcagcacgccattgcagcgca	8	6	11	16	3	0	1	0	0	0	1	1	2	1	2	4	1	6	4	4	1	0	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2104G>T	p.Glu702Ter	p.E702*	ENST00000405093	18/39	722	480	242	554	552	2	strelka-varscan-mutect	MYH6,stop_gained,p.Glu702Ter,ENST00000405093,NM_002471.3;MYH6,stop_gained,p.Glu702Ter,ENST00000356287,;MYH6,downstream_gene_variant,,ENST00000557461,;	A	ENST00000405093	Transcript	stop_gained	2175/5941	2104/5820	702/1939	E/*	Gag/Tag		1		-1	MYH6	HGNC	HGNC:7576	protein_coding	YES	CCDS9600.1	ENSP00000386041	P13533		UPI0000160969	NM_002471.3			18/39		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF413,SMART_domains:SM00242,Superfamily_domains:SSF52540																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	62	23397027	23397027	C	A	1	0	0	0	0	0	1	0	0	10038	864	30	2		2	MYH6	14	23397027	Nonsense_Mutation	SNP	C	C3N-00580_TP	552299	23397027	83646691	755	20215											
CARMIL3	0	.	GRCh38	chr14	24060668	24060668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgagtgcaggaggaggtgcGggccctgagactatgccccc	8	5	16	12	2	0	1	0	1	0	1	0	5	0	3	3	4	3	1	3	4	1	1	rs774706113		C3N-00580_TP	C3N-00580_NB	G	G																c.2102G>T	p.Arg701Leu	p.R701L	ENST00000342740	25/40	225	176	49	174	174	0	strelka-varscan-mutect	CARMIL3,missense_variant,p.Arg701Leu,ENST00000342740,NM_138360.3;CARMIL3,non_coding_transcript_exon_variant,,ENST00000559694,;CARMIL3,upstream_gene_variant,,ENST00000560349,;CARMIL3,upstream_gene_variant,,ENST00000561354,;	T	ENST00000342740	Transcript	missense_variant	2256/4597	2102/4119	701/1372	R/L	cGg/cTg	rs774706113,COSM5268622	1		1	CARMIL3	HGNC	HGNC:20272	protein_coding	YES	CCDS32054.1	ENSP00000340467	Q8ND23		UPI0000DBEF11	NM_138360.3	tolerated(0.14)		25/40		hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF43											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs774706113	.												T	3	4	62	24060668	24060668	G	T	1	0	0	0	0	1	0	0	0	2353	1116	39	1		1	CARMIL3	14	24060668	Missense_Mutation	SNP	G	C3N-00580_TP	663641	24060668	82983050	756	20216											
IRF9	0	.	GRCh38	chr14	24163094	24163094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgagaggggccgcatGgatgttgctgagccctacaa	8	9	14	10	1	0	2	0	2	0	1	1	4	1	3	3	3	3	4	3	3	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.309G>A	p.Met103Ile	p.M103I	ENST00000396864	3/9	265	148	117	299	299	0	strelka-varscan-mutect	IRF9,start_lost,p.Met1?,ENST00000557894,;IRF9,missense_variant,p.Met103Ile,ENST00000396864,NM_006084.4;IRF9,missense_variant,p.Met103Ile,ENST00000560275,;IRF9,missense_variant,p.Met33Ile,ENST00000324076,;IRF9,missense_variant,p.Met103Ile,ENST00000559284,;RNF31,downstream_gene_variant,,ENST00000324103,NM_017999.4;RNF31,downstream_gene_variant,,ENST00000559275,NM_001310332.1;RNF31,downstream_gene_variant,,ENST00000560787,;RNF31,downstream_gene_variant,,ENST00000559719,;RNA5SP383,downstream_gene_variant,,ENST00000362934,;RP11-468E2.4,3_prime_UTR_variant,,ENST00000558468,;IRF9,3_prime_UTR_variant,,ENST00000561342,;IRF9,3_prime_UTR_variant,,ENST00000560852,;IRF9,non_coding_transcript_exon_variant,,ENST00000561415,;IRF9,non_coding_transcript_exon_variant,,ENST00000560365,;IRF9,non_coding_transcript_exon_variant,,ENST00000561009,;RNF31,downstream_gene_variant,,ENST00000559071,;RNF31,downstream_gene_variant,,ENST00000491351,;IRF9,upstream_gene_variant,,ENST00000560542,;RNF31,downstream_gene_variant,,ENST00000559449,;RNF31,downstream_gene_variant,,ENST00000483895,;IRF9,upstream_gene_variant,,ENST00000560311,;IRF9,downstream_gene_variant,,ENST00000561412,;IRF9,upstream_gene_variant,,ENST00000559863,;IRF9,upstream_gene_variant,,ENST00000559229,;RNF31,downstream_gene_variant,,ENST00000559491,;RNF31,downstream_gene_variant,,ENST00000560631,;	A	ENST00000396864	Transcript	missense_variant	596/1838	309/1182	103/393	M/I	atG/atA		1		1	IRF9	HGNC	HGNC:6131	protein_coding	YES	CCDS9615.1	ENSP00000380073	Q00978		UPI000012D8C2	NM_006084.4	tolerated(0.07)		3/9		Gene3D:1.10.10.10,Pfam_domain:PF00605,PROSITE_profiles:PS51507,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF26,SMART_domains:SM00348,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	24163094	24163094	G	A	1	0	0	0	0	1	0	0	0	7744	1348	47	3		3	IRF9	14	24163094	Missense_Mutation	SNP	G	C3N-00580_TP	102426	24163094	82880624	757	20217											
SCFD1	0	.	GRCh38	chr14	30628259	30628259	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcatattaaaaacagcAcaggagaaccagtatggaag	17	7	9	8	0	1	1	1	0	0	1	1	3	1	2	2	2	4	2	2	2	7	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.112A>T	p.Thr38Ser	p.T38S	ENST00000458591	2/25	129	115	14	154	154	0	strelka-varscan-mutect	SCFD1,missense_variant,p.Thr38Ser,ENST00000458591,NM_016106.3;SCFD1,missense_variant,p.Thr13Ser,ENST00000557076,;SCFD1,intron_variant,,ENST00000544052,NM_182835.2;SCFD1,intron_variant,,ENST00000396629,NM_001283032.1,NM_001283033.1,NM_001283031.1,NM_001257376.1;SCFD1,intron_variant,,ENST00000553693,;SCFD1,missense_variant,p.Thr38Ser,ENST00000311943,;SCFD1,missense_variant,p.Thr38Ser,ENST00000463622,;SCFD1,missense_variant,p.Thr38Ser,ENST00000556768,;SCFD1,missense_variant,p.Thr38Ser,ENST00000555259,;SCFD1,missense_variant,p.Thr18Ser,ENST00000554776,;SCFD1,missense_variant,p.Thr13Ser,ENST00000557713,;SCFD1,non_coding_transcript_exon_variant,,ENST00000556413,;SCFD1,intron_variant,,ENST00000484733,;	T	ENST00000458591	Transcript	missense_variant	339/2359	112/1929	38/642	T/S	Aca/Tca		1		1	SCFD1	HGNC	HGNC:20726	protein_coding	YES	CCDS9639.1	ENSP00000390783	Q8WVM8		UPI000013C6E3	NM_016106.3	tolerated(0.79)		2/25		Gene3D:3.40.50.2060,PIRSF_domain:PIRSF005715,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF2,Superfamily_domains:SSF56815																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	30628259	30628259	A	T	1	0	0	0	0	1	0	0	0	14155	159	6	4		4	SCFD1	14	30628259	Missense_Mutation	SNP	A	C3N-00580_TP	6465165	30628259	76415459	758	20218											
SEC23A	0	.	GRCh38	chr14	39091536	39091536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatagctttttgaaatgcCttcacatccaagttcatgaa	13	13	6	9	0	2	2	2	2	0	0	3	3	3	2	2	0	2	2	2	0	4	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.544G>T	p.Gly182Cys	p.G182C	ENST00000307712	5/20	582	315	267	384	383	1	strelka-varscan-mutect	SEC23A,missense_variant,p.Gly182Cys,ENST00000307712,NM_006364.2;SEC23A,missense_variant,p.Gly153Cys,ENST00000545328,;SEC23A,upstream_gene_variant,,ENST00000537403,;SEC23A,downstream_gene_variant,,ENST00000548032,;SEC23A,downstream_gene_variant,,ENST00000555017,;SEC23A,downstream_gene_variant,,ENST00000557437,;SEC23A,downstream_gene_variant,,ENST00000553970,;SEC23A,downstream_gene_variant,,ENST00000556092,;SEC23A,downstream_gene_variant,,ENST00000557280,;SEC23A,downstream_gene_variant,,ENST00000555425,;SEC23A,downstream_gene_variant,,ENST00000625395,;SEC23A,non_coding_transcript_exon_variant,,ENST00000555682,;RP11-545M17.2,downstream_gene_variant,,ENST00000554037,;	A	ENST00000307712	Transcript	missense_variant	1062/4135	544/2298	182/765	G/C	Ggc/Tgc		1		-1	SEC23A	HGNC	HGNC:10701	protein_coding	YES	CCDS9668.1	ENSP00000306881	Q15436		UPI000013EC46	NM_006364.2	deleterious(0.03)		5/20		Gene3D:3.40.50.410,Pfam_domain:PF04811,hmmpanther:PTHR11141,hmmpanther:PTHR11141:SF7,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	39091536	39091536	C	A	1	0	0	0	0	1	0	0	0	14268	681	24	2		2	SEC23A	14	39091536	Missense_Mutation	SNP	C	C3N-00580_TP	8463277	39091536	67952182	759	20219											
LRFN5	0	.	GRCh38	chr14	41891511	41891511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattcatcattattctgatGatccggtataaggtttgcaa	11	16	8	6	1	3	2	2	2	1	0	4	2	4	2	1	2	1	4	1	2	5	7			C3N-00580_TP	C3N-00580_NB	G	G																c.1647G>T	p.Met549Ile	p.M549I	ENST00000298119	4/6	351	272	79	382	382	0	strelka-varscan-mutect	LRFN5,missense_variant,p.Met549Ile,ENST00000298119,NM_152447.3;LRFN5,intron_variant,,ENST00000554171,;LRFN5,intron_variant,,ENST00000554120,;	T	ENST00000298119	Transcript	missense_variant	2836/3723	1647/2160	549/719	M/I	atG/atT	COSM5066241,COSM5545248	1		1	LRFN5	HGNC	HGNC:20360	protein_coding	YES	CCDS9678.1	ENSP00000298119	Q96NI6		UPI000000DA1E	NM_152447.3	tolerated(0.13)		4/6		Transmembrane_helices:TMhelix,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1333055470	.												T	3	4	62	41891511	41891511	G	T	1	0	0	0	0	1	0	0	0	8835	1290	45	2		2	LRFN5	14	41891511	Missense_Mutation	SNP	G	C3N-00580_TP	2799975	41891511	65152207	760	20220											
LRFN5	0	.	GRCh38	chr14	41891780	41891780	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacttcaagcacttctgTgtcccaaaagcagaaaagaa	15	8	8	10	0	2	2	1	0	1	2	3	3	3	3	1	1	2	2	1	1	6	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1916T>A	p.Val639Glu	p.V639E	ENST00000298119	4/6	338	263	75	423	423	0	strelka-varscan-mutect	LRFN5,missense_variant,p.Val639Glu,ENST00000298119,NM_152447.3;LRFN5,intron_variant,,ENST00000554171,;LRFN5,intron_variant,,ENST00000554120,;	A	ENST00000298119	Transcript	missense_variant	3105/3723	1916/2160	639/719	V/E	gTg/gAg		1		1	LRFN5	HGNC	HGNC:20360	protein_coding	YES	CCDS9678.1	ENSP00000298119	Q96NI6		UPI000000DA1E	NM_152447.3	tolerated_low_confidence(1)		4/6		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	41891780	41891780	T	A	1	0	0	0	0	1	0	0	0	8835	1696	59	4		4	LRFN5	14	41891780	Missense_Mutation	SNP	T	C3N-00580_TP	269	41891780	65151938	761	20221											
FAM179B	0	.	GRCh38	chr14	45068565	45068565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctaattccagcaatagtgGataacaatctgaattccaag	15	11	7	8	0	1	1	0	1	1	0	3	2	3	2	2	1	3	2	2	1	7	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.4891G>T	p.Asp1631Tyr	p.D1631Y	ENST00000361462	18/20	257	191	66	228	228	0	strelka-varscan-mutect	FAM179B,missense_variant,p.Asp1631Tyr,ENST00000361462,NM_001308120.1;FAM179B,missense_variant,p.Asp1578Tyr,ENST00000361577,NM_015091.2;FAM179B,missense_variant,p.Asp42Tyr,ENST00000556823,;FAM179B,3_prime_UTR_variant,,ENST00000557423,;	T	ENST00000361462	Transcript	missense_variant	5074/6375	4891/5322	1631/1773	D/Y	Gat/Tat		1		1	FAM179B	HGNC	HGNC:19959	protein_coding	YES	CCDS76676.1	ENSP00000354917		G3XAE9	UPI000022974E	NM_001308120.1	deleterious(0)		18/20		Gene3D:1.25.10.10,hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF6,SMART_domains:SM01349,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	45068565	45068565	G	T	1	0	0	0	0	1	0	0	0	5351	1174	41	2		2	FAM179B	14	45068565	Missense_Mutation	SNP	G	C3N-00580_TP	3176785	45068565	61975153	762	20222											
PTGDR	0	.	GRCh38	chr14	52268503	52268503	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacctctatgcgatgcaccGgcggctgcagcggcacccgc	7	5	12	17	5	1	0	0	0	1	0	1	1	1	0	3	3	5	4	3	3	2	1	rs201265894		C3N-00580_TP	C3N-00580_NB	G	G																c.689G>T	p.Arg230Leu	p.R230L	ENST00000306051	1/2	237	188	49	184	184	0	strelka-varscan-mutect	PTGDR,missense_variant,p.Arg230Leu,ENST00000306051,NM_000953.2;PTGDR,missense_variant,p.Arg230Leu,ENST00000553372,NM_001281469.1;	T	ENST00000306051	Transcript	missense_variant	791/2942	689/1080	230/359	R/L	cGg/cTg	rs201265894,COSM3769460	1		1	PTGDR	HGNC	HGNC:9591	protein_coding	YES	CCDS9707.1	ENSP00000303424	Q13258		UPI000000D994	NM_000953.2	deleterious(0.03)		1/2		PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF14,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201265894	.												T	3	4	62	52268503	52268503	G	T	1	0	0	0	0	1	0	0	0	12894	1116	39	1		1	PTGDR	14	52268503	Missense_Mutation	SNP	G	C3N-00580_TP	7199938	52268503	54775215	763	20223											
RTN1	0	.	GRCh38	chr14	59727212	59727212	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcatccagggcgctgggcTtcatcgggggtgagtcctgc	4	9	17	11	2	1	1	1	1	0	0	4	1	3	1	2	5	1	3	2	5	0	1			C3N-00580_TP	C3N-00580_NB	T	T																c.1472A>C	p.Lys491Thr	p.K491T	ENST00000267484	3/9	98	93	5	60	60	0	strelka-mutect	RTN1,missense_variant,p.Lys491Thr,ENST00000267484,NM_021136.2;RTN1,missense_variant,p.Lys417Thr,ENST00000611068,;RTN1,non_coding_transcript_exon_variant,,ENST00000432103,;	G	ENST00000267484	Transcript	missense_variant	1808/3435	1472/2331	491/776	K/T	aAg/aCg	COSM1264644	1		-1	RTN1	HGNC	HGNC:10467	protein_coding	YES	CCDS9740.1	ENSP00000267484	Q16799		UPI00001352DA	NM_021136.2	deleterious(0)		3/9		hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	62	59727212	59727212	T	G	1	0	0	0	0	1	0	0	0	13985	1609	56	5		5	RTN1	14	59727212	Missense_Mutation	SNP	T	C3N-00580_TP	7458709	59727212	47316506	764	20224											
SNAPC1	0	.	GRCh38	chr14	61794970	61794970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcactgcatccaagaagaGgagaaaacactgaacaaaga	19	5	9	8	0	1	5	1	1	0	4	2	6	2	5	1	1	3	2	1	1	6	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1094G>T	p.Arg365Met	p.R365M	ENST00000216294	10/10	66	37	29	90	90	0	strelka-varscan-mutect	SNAPC1,missense_variant,p.Arg365Met,ENST00000216294,NM_003082.3;	T	ENST00000216294	Transcript	missense_variant	1198/2656	1094/1107	365/368	R/M	aGg/aTg		1		1	SNAPC1	HGNC	HGNC:11134	protein_coding	YES	CCDS9755.1	ENSP00000216294	Q16533		UPI0000000DEB	NM_003082.3	deleterious(0)		10/10		hmmpanther:PTHR15131,hmmpanther:PTHR15131:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	61794970	61794970	G	T	1	0	0	0	0	1	0	0	0	15155	1000	35	2		2	SNAPC1	14	61794970	Missense_Mutation	SNP	G	C3N-00580_TP	2067758	61794970	45248748	765	20225											
KCNH5	0	.	GRCh38	chr14	62707944	62707944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctctgaatcactgctcttgGggtcctcagacaatagcccc	8	11	8	14	0	4	2	2	1	2	1	6	2	5	2	3	2	2	1	3	2	3	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2531C>T	p.Pro844Leu	p.P844L	ENST00000322893	11/11	357	273	84	221	221	0	strelka-varscan-mutect	KCNH5,missense_variant,p.Pro844Leu,ENST00000322893,NM_139318.4;KCNH5,3_prime_UTR_variant,,ENST00000420622,NM_172375.2;KCNH5,downstream_gene_variant,,ENST00000394968,;	A	ENST00000322893	Transcript	missense_variant	2800/11290	2531/2967	844/988	P/L	cCc/cTc		1		-1	KCNH5	HGNC	HGNC:6254	protein_coding	YES	CCDS9756.1	ENSP00000321427	Q8NCM2		UPI0000039E2D	NM_139318.4	tolerated_low_confidence(0.07)		11/11		hmmpanther:PTHR10217:SF533,hmmpanther:PTHR10217																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	62707944	62707944	G	A	1	0	0	0	0	1	0	0	0	7951	1232	43	3		3	KCNH5	14	62707944	Missense_Mutation	SNP	G	C3N-00580_TP	912974	62707944	44335774	766	20226											
SLC10A1	0	.	GRCh38	chr14	69786253	69786253	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccctggagtagatgtacagGaggagaggcatcatgccaag	12	6	14	9	0	1	2	1	0	0	2	1	5	1	4	3	4	2	3	3	4	3	2			C3N-00580_TP	C3N-00580_NB	G	G																c.411C>A	p.=	p.L137L	ENST00000216540	2/5	441	342	99	518	518	0	strelka-varscan-mutect	SLC10A1,synonymous_variant,p.=,ENST00000216540,NM_003049.3;	T	ENST00000216540	Transcript	synonymous_variant	545/2049	411/1050	137/349	L	ctC/ctA	COSM5292853	1		-1	SLC10A1	HGNC	HGNC:10905	protein_coding	YES	CCDS9797.1	ENSP00000216540	Q14973		UPI0000130576	NM_003049.3			2/5		Pfam_domain:PF01758,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF40,TIGRFAM_domain:TIGR00841,Transmembrane_helices:TMhelix											1						LOW	1	SNV	1		1	1										PASS		rs1299364646	.												T	2	4	62	69786253	69786253	G	T	1	0	0	0	0	0	0	0	1	14638	1161	41	2		2	SLC10A1	14	69786253	Silent	SNP	G	C3N-00580_TP	7078309	69786253	37257465	767	20227											
ADAM21	0	.	GRCh38	chr14	70458790	70458790	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgtacagcagtgtgaacaaGacgcctgttgtctgttgaac	10	10	11	10	2	1	3	0	2	1	1	1	3	1	3	2	0	4	4	2	0	4	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1291G>C	p.Asp431His	p.D431H	ENST00000603540	2/2	462	355	107	461	461	0	strelka-varscan-mutect	ADAM21,missense_variant,p.Asp431His,ENST00000603540,NM_003813.3;RP11-486O13.4,intron_variant,,ENST00000556646,;	C	ENST00000603540	Transcript	missense_variant	1549/2658	1291/2169	431/722	D/H	Gac/Cac		1		1	ADAM21	HGNC	HGNC:200	protein_coding	YES	CCDS9804.1	ENSP00000474385	Q9UKJ8		UPI000013D756	NM_003813.3	deleterious(0.02)		2/2		PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF116,hmmpanther:PTHR11905,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552																	MODERATE	1	SNV	3			1										PASS		.	.												C	3	2	62	70458790	70458790	G	C	1	0	0	0	0	1	0	0	0	287	942	33	4		4	ADAM21	14	70458790	Missense_Mutation	SNP	G	C3N-00580_TP	672537	70458790	36584928	768	20228											
PCNX1	0	.	GRCh38	chr14	71109476	71109476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggatcccagtcaaattctgGaagggatcaacctgtctaaa	13	10	9	9	0	4	0	2	0	2	0	5	3	5	3	2	3	1	0	2	3	5	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.6769G>C	p.Glu2257Gln	p.E2257Q	ENST00000304743	35/36	201	144	57	144	144	0	strelka-varscan-mutect	PCNX1,missense_variant,p.Glu2257Gln,ENST00000304743,NM_014982.2;PCNX1,missense_variant,p.Glu2146Gln,ENST00000439984,NM_001308160.1;PCNX1,missense_variant,p.Glu1244Gln,ENST00000554691,;PCNX1,missense_variant,p.Glu18Gln,ENST00000555780,;PCNX1,non_coding_transcript_exon_variant,,ENST00000556272,;	C	ENST00000304743	Transcript	missense_variant	7215/12919	6769/7026	2257/2341	E/Q	Gaa/Caa		1		1	PCNX1	HGNC	HGNC:19740	protein_coding	YES	CCDS9806.1	ENSP00000304192	Q96RV3		UPI000013E9BB	NM_014982.2	deleterious_low_confidence(0.01)		35/36		hmmpanther:PTHR12372:SF2,hmmpanther:PTHR12372																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	71109476	71109476	G	C	1	0	0	0	0	1	0	0	0	11679	1175	41	4		4	PCNX1	14	71109476	Missense_Mutation	SNP	G	C3N-00580_TP	650686	71109476	35934242	769	20229											
SIPA1L1	0	.	GRCh38	chr14	71588265	71588265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattccaatgactcagccatGctgaaaagcatacagaacac	17	7	6	11	0	1	3	1	2	0	1	2	3	2	3	2	0	5	2	2	0	6	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.393G>T	p.Met131Ile	p.M131I	ENST00000555818	2/22	424	292	132	351	351	0	strelka-varscan-mutect	SIPA1L1,missense_variant,p.Met131Ile,ENST00000555818,NM_015556.2,NM_001284247.1;SIPA1L1,missense_variant,p.Met131Ile,ENST00000358550,NM_001284246.1;SIPA1L1,missense_variant,p.Met131Ile,ENST00000381232,NM_001284245.1;SIPA1L1,downstream_gene_variant,,ENST00000557151,;SIPA1L1,downstream_gene_variant,,ENST00000555989,;SIPA1L1,downstream_gene_variant,,ENST00000554362,;SIPA1L1,downstream_gene_variant,,ENST00000555652,;	T	ENST00000555818	Transcript	missense_variant	741/7831	393/5415	131/1804	M/I	atG/atT		1		1	SIPA1L1	HGNC	HGNC:20284	protein_coding	YES	CCDS9807.1	ENSP00000450832	O43166		UPI00000443CB	NM_015556.2,NM_001284247.1	tolerated(0.28)		2/22		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	71588265	71588265	G	T	1	0	0	0	0	1	0	0	0	14592	1319	46	2		2	SIPA1L1	14	71588265	Missense_Mutation	SNP	G	C3N-00580_TP	478789	71588265	35455453	770	20230											
YLPM1	0	.	GRCh38	chr14	74780452	74780452	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagcagttgcaggctgcAgcagcacactggcagcagca	12	6	12	11	0	0	0	0	0	0	0	0	0	0	0	0	2	7	10	0	2	2	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1158A>T	p.=	p.A386A	ENST00000325680	3/21	143	112	31	127	127	0	strelka-varscan-mutect	YLPM1,synonymous_variant,p.=,ENST00000325680,NM_019589.2;YLPM1,synonymous_variant,p.=,ENST00000552421,;YLPM1,upstream_gene_variant,,ENST00000549293,;	T	ENST00000325680	Transcript	synonymous_variant	1282/7108	1158/6441	386/2146	A	gcA/gcT		1		1	YLPM1	HGNC	HGNC:17798	protein_coding	YES	CCDS45135.1	ENSP00000324463	P49750		UPI00006C1433	NM_019589.2			3/21		Low_complexity_(Seg):seg,hmmpanther:PTHR13413:SF0,hmmpanther:PTHR13413																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	62	74780452	74780452	A	T	1	0	0	0	0	0	0	0	1	18048	175	7	4		4	YLPM1	14	74780452	Silent	SNP	A	C3N-00580_TP	3192187	74780452	32263266	771	20231											
ESRRB	0	.	GRCh38	chr14	76482701	76482701	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaaggccctgaccactctCtgtgacctggcagaccgaga	10	7	10	14	1	2	4	1	2	1	2	3	5	2	4	4	2	0	1	4	2	1	0			C3N-00580_TP	C3N-00580_NB	C	C																c.729C>T	p.=	p.L243L	ENST00000509242	5/9	318	228	90	328	328	0	strelka-varscan-mutect	ESRRB,synonymous_variant,p.=,ENST00000509242,;ESRRB,synonymous_variant,p.=,ENST00000380887,NM_004452.3;ESRRB,synonymous_variant,p.=,ENST00000512784,;ESRRB,synonymous_variant,p.=,ENST00000556177,;ESRRB,downstream_gene_variant,,ENST00000507951,;ESRRB,synonymous_variant,p.=,ENST00000505752,;	T	ENST00000509242	Transcript	synonymous_variant	937/2849	729/1527	243/508	L	ctC/ctT	COSM1587624,COSM958057	1		1	ESRRB	HGNC	HGNC:3473	protein_coding	YES	CCDS9850.2	ENSP00000422488	O95718		UPI000003157B				5/9		Gene3D:1.10.565.10,Pfam_domain:PF00104,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF23,Superfamily_domains:SSF48508											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	62	76482701	76482701	C	T	1	0	0	0	0	0	0	0	1	5123	900	32	3		3	ESRRB	14	76482701	Silent	SNP	C	C3N-00580_TP	1702249	76482701	30561017	772	20232											
TDP1	0	.	GRCh38	chr14	90043080	90043080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttcccccagatcggccatgGatatggaacattccttatgt	9	13	8	11	1	0	1	0	0	0	1	3	3	2	3	4	3	1	0	4	3	3	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1764G>T	p.Trp588Cys	p.W588C	ENST00000335725	17/17	592	426	166	594	593	1	strelka-varscan-mutect	TDP1,missense_variant,p.Trp588Cys,ENST00000335725,NM_018319.3;TDP1,missense_variant,p.Trp588Cys,ENST00000393454,NM_001008744.1;TDP1,missense_variant,p.Gly552Val,ENST00000555880,;TDP1,3_prime_UTR_variant,,ENST00000393452,;TDP1,3_prime_UTR_variant,,ENST00000554976,;TDP1,3_prime_UTR_variant,,ENST00000545686,;TDP1,3_prime_UTR_variant,,ENST00000555178,;	T	ENST00000335725	Transcript	missense_variant	2014/3702	1764/1827	588/608	W/C	tgG/tgT		1		1	TDP1	HGNC	HGNC:18884	protein_coding	YES	CCDS9888.1	ENSP00000337353	Q9NUW8	A0A024R6L5	UPI00000737ED	NM_018319.3	deleterious(0)		17/17		Gene3D:3.30.870.20,hmmpanther:PTHR12415,hmmpanther:PTHR12415:SF0,Superfamily_domains:SSF56024																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	90043080	90043080	G	T	1	0	0	0	0	1	0	0	0	16136	1183	41	2		2	TDP1	14	90043080	Missense_Mutation	SNP	G	C3N-00580_TP	13560379	90043080	17000638	773	20233											
GPR68	0	.	GRCh38	chr14	91234764	91234764	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtacaggaggatgccgcacAcctggcaggacaggtcgccg	9	4	15	13	4	0	0	0	0	0	0	1	3	0	3	3	5	2	3	3	5	1	1	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.287T>C	p.Val96Ala	p.V96A	ENST00000531499	2/2	206	165	41	261	261	0	strelka-varscan-mutect	GPR68,missense_variant,p.Val96Ala,ENST00000531499,NM_003485.3;GPR68,missense_variant,p.Val96Ala,ENST00000535815,NM_001177676.1;GPR68,missense_variant,p.Val96Ala,ENST00000529102,;GPR68,downstream_gene_variant,,ENST00000529300,;	G	ENST00000531499	Transcript	missense_variant	627/2859	287/1098	96/365	V/A	gTg/gCg		1		-1	GPR68	HGNC	HGNC:4519	protein_coding	YES	CCDS9894.2	ENSP00000434045	Q15743		UPI000005042A	NM_003485.3	deleterious(0)		2/2		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24234:SF5,hmmpanther:PTHR24234,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01564																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	91234764	91234764	A	G	1	0	0	0	0	1	0	0	0	6590	159	6	5		5	GPR68	14	91234764	Missense_Mutation	SNP	A	C3N-00580_TP	1191684	91234764	15808954	774	20234											
SERPINA11	0	.	GRCh38	chr14	94442648	94442648	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttttcccaggaagagtaaGctctgggtggtgacctccca	9	10	11	11	0	1	2	0	1	1	1	3	3	3	3	3	3	1	2	3	3	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1227C>G	p.Ser409Arg	p.S409R	ENST00000334708	5/5	166	113	53	196	196	0	strelka-varscan-mutect	SERPINA11,missense_variant,p.Ser409Arg,ENST00000334708,NM_001080451.1;RP11-349I1.2,intron_variant,,ENST00000536735,;	C	ENST00000334708	Transcript	missense_variant	1292/1476	1227/1269	409/422	S/R	agC/agG		1		-1	SERPINA11	HGNC	HGNC:19193	protein_coding	YES	CCDS32149.1	ENSP00000335024	Q86U17		UPI000015DA3A	NM_001080451.1	deleterious(0)		5/5		Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF154,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		rs1321900897	.												C	3	2	62	94442648	94442648	G	C	1	0	0	0	0	1	0	0	0	14364	962	34	4		4	SERPINA11	14	94442648	Missense_Mutation	SNP	G	C3N-00580_TP	3207884	94442648	12601070	775	20235											
YY1	0	.	GRCh38	chr14	100262452	100262452	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagatcccaaacaactGgcagaatttgctaggtaagt	13	10	8	10	0	1	2	1	0	1	2	3	2	2	2	1	2	3	3	1	2	5	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.828G>T	p.=	p.L276L	ENST00000262238	2/5	304	240	64	303	302	1	strelka-varscan-mutect	YY1,synonymous_variant,p.=,ENST00000262238,NM_003403.4;YY1,synonymous_variant,p.=,ENST00000554804,;YY1,synonymous_variant,p.=,ENST00000553625,;RP11-638I2.2,upstream_gene_variant,,ENST00000555212,;	T	ENST00000262238	Transcript	synonymous_variant	1088/6697	828/1245	276/414	L	ctG/ctT		1		1	YY1	HGNC	HGNC:12856	protein_coding	YES	CCDS9957.1	ENSP00000262238	P25490		UPI00001378FC	NM_003403.4			2/5		PIRSF_domain:PIRSF037113,hmmpanther:PTHR14003,hmmpanther:PTHR14003:SF10																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	100262452	100262452	G	T	1	0	0	0	0	0	0	0	1	18068	1335	47	2		2	YY1	14	100262452	Silent	SNP	G	C3N-00580_TP	5819804	100262452	6781266	776	20236											
DYNC1H1	0	.	GRCh38	chr14	102034348	102034348	+	Frame_Shift_Del	DEL	G	G	-																															cgtacagatattgccaggacGgaatacctttccaatgctga																								rs143068719		C3N-00580_TP	C3N-00580_NB	G	G																c.10651delG	p.Glu3551AsnfsTer30	p.E3551Nfs*30	ENST00000360184	56/78	630	450	180	786	786	0	sindel-varindel-pindel	DYNC1H1,frameshift_variant,p.Glu3551AsnfsTer30,ENST00000360184,NM_001376.4;DYNC1H1,frameshift_variant,p.Glu27AsnfsTer30,ENST00000553423,;RP11-1017G21.4,downstream_gene_variant,,ENST00000557551,;RP11-1017G21.4,downstream_gene_variant,,ENST00000557242,;RP11-1017G21.4,downstream_gene_variant,,ENST00000553701,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000556791,;DYNC1H1,downstream_gene_variant,,ENST00000554854,;DYNC1H1,upstream_gene_variant,,ENST00000555800,;	-	ENST00000360184	Transcript	frameshift_variant	10814/14333	10650/13941	3550/4646	T/X	acG/ac	rs143068719	1		1	DYNC1H1	HGNC	HGNC:2961	protein_coding	YES	CCDS9966.1	ENSP00000348965	Q14204		UPI00001B515A	NM_001376.4			56/78		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF28																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	62	102034348	102034348	G	-	1	0	1	0	1	0	0	0	0	4665	1103	39	0		0	DYNC1H1	14	102034348	Frame_Shift_Del	DEL	G	C3N-00580_TP	1771896	102034348	5009370	777	20237											
TNFAIP2	0	.	GRCh38	chr14	103127118	103127118	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggcggtgtgagcgaggagGagctggtgcggcgccagagc	6	4	22	9	5	0	2	0	1	0	1	0	5	0	4	1	6	4	1	1	6	0	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.349G>T	p.Glu117Ter	p.E117*	ENST00000560869	3/12	18	10	8	36	36	0	strelka-varscan-mutect	TNFAIP2,stop_gained,p.Glu117Ter,ENST00000560869,;TNFAIP2,stop_gained,p.Glu117Ter,ENST00000333007,NM_006291.2;TNFAIP2,upstream_gene_variant,,ENST00000560670,;TNFAIP2,downstream_gene_variant,,ENST00000558056,;LINC00677,upstream_gene_variant,,ENST00000558224,;LINC00677,upstream_gene_variant,,ENST00000560742,;TNFAIP2,intron_variant,,ENST00000559195,;TNFAIP2,intron_variant,,ENST00000559406,;TNFAIP2,intron_variant,,ENST00000560562,;TNFAIP2,upstream_gene_variant,,ENST00000560428,;TNFAIP2,upstream_gene_variant,,ENST00000561156,;	T	ENST00000560869	Transcript	stop_gained	988/4683	349/1965	117/654	E/*	Gag/Tag		1		1	TNFAIP2	HGNC	HGNC:11895	protein_coding	YES	CCDS9979.1	ENSP00000452634	Q03169		UPI0000164A41				3/12		Low_complexity_(Seg):seg,hmmpanther:PTHR21292:SF4,hmmpanther:PTHR21292																	HIGH		SNV	5			1										PASS		.	.												T	4	4	62	103127118	103127118	G	T	1	0	0	0	0	0	1	0	0	16747	1175	41	2		2	TNFAIP2	14	103127118	Nonsense_Mutation	SNP	G	C3N-00580_TP	1092770	103127118	3916600	778	20238											
CEP170B	0	.	GRCh38	chr14	104894336	104894336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggacctggaagccaggatCaacgccgagaacgaggtgcc	12	3	15	11	3	1	1	1	0	0	1	1	7	1	4	4	4	4	0	4	4	3	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.4323C>G	p.Ile1441Met	p.I1441M	ENST00000414716	17/19	340	262	78	478	478	0	strelka-varscan-mutect	CEP170B,missense_variant,p.Ile1477Met,ENST00000453495,;CEP170B,missense_variant,p.Ile1441Met,ENST00000414716,NM_001112726.2;CEP170B,missense_variant,p.Ile1406Met,ENST00000556508,NM_015005.2;CEP170B,non_coding_transcript_exon_variant,,ENST00000251181,;	G	ENST00000414716	Transcript	missense_variant	4551/6705	4323/4665	1441/1554	I/M	atC/atG		1		1	CEP170B	HGNC	HGNC:20362	protein_coding	YES	CCDS45175.1	ENSP00000404151	Q9Y4F5		UPI00001FDCF7	NM_001112726.2	deleterious(0.04)		17/19		Pfam_domain:PF15308,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	104894336	104894336	C	G	1	0	0	0	0	1	0	0	0	2965	816	29	4		4	CEP170B	14	104894336	Missense_Mutation	SNP	C	C3N-00580_TP	1767218	104894336	2149382	779	20239											
CEP170B	0	.	GRCh38	chr14	104894910	104894910	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccagctgtgggcctcccagCctcccggaccccaccttcct	4	7	9	21	1	0	0	0	0	0	0	3	1	3	1	9	2	2	1	9	2	0	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.4617C>T	p.=	p.S1539S	ENST00000414716	19/19	131	91	40	153	153	0	strelka-varscan-mutect	CEP170B,synonymous_variant,p.=,ENST00000453495,;CEP170B,synonymous_variant,p.=,ENST00000414716,NM_001112726.2;CEP170B,synonymous_variant,p.=,ENST00000556508,NM_015005.2;CEP170B,non_coding_transcript_exon_variant,,ENST00000251181,;	T	ENST00000414716	Transcript	synonymous_variant	4845/6705	4617/4665	1539/1554	S	agC/agT		1		1	CEP170B	HGNC	HGNC:20362	protein_coding	YES	CCDS45175.1	ENSP00000404151	Q9Y4F5		UPI00001FDCF7	NM_001112726.2			19/19																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	104894910	104894910	C	T	1	0	0	0	0	0	0	0	1	2965	738	26	3		3	CEP170B	14	104894910	Silent	SNP	C	C3N-00580_TP	574	104894910	2148808	780	20240											
RP11-294C11.3	0	.	GRCh38	chr15	21652484	21652484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttctgtgatgtccgacagGtcatcaagctggcttgcacc	7	12	10	12	1	4	1	2	1	2	0	5	2	5	1	2	2	2	3	2	2	1	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.550G>T	p.Val184Phe	p.V184F	ENST00000623441	1/1	25	19	6	46	46	0	strelka-varscan-mutect	RP11-294C11.3,missense_variant,p.Val184Phe,ENST00000623441,;RP11-294C11.3,missense_variant,p.Val79Phe,ENST00000629333,;RP11-983G14.1,non_coding_transcript_exon_variant,,ENST00000628444,;	T	ENST00000623441	Transcript	missense_variant	641/1125	550/951	184/316	V/F	Gtc/Ttc		1		1	RP11-294C11.3	Clone_based_vega_gene		protein_coding	YES		ENSP00000485668		A0A096LPK9	UPI000514C5E0		deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF97,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												T	3	4	62	21652484	21652484	G	T	1	0	0	0	0	1	0	0	0	13727	1261	44	2		2	RP11-294C11.3	15	21652484	Missense_Mutation	SNP	G	C3N-00580_TP		21652484	80338705	781	20241											
MAGEL2	0	.	GRCh38	chr15	23647261	23647261	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccccggaggaggaggaTgggccattggggtccccgga	6	5	20	10	2	0	0	0	0	0	0	2	5	2	5	5	9	0	0	5	9	0	1	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.482A>T	p.His161Leu	p.H161L	ENST00000532292	1/1	75	53	22	126	126	0	strelka-varscan-mutect	MAGEL2,missense_variant,p.His161Leu,ENST00000532292,NM_019066.4;	A	ENST00000532292	Transcript	missense_variant	581/4298	482/3750	161/1249	H/L	cAt/cTt		1		-1	MAGEL2	HGNC	HGNC:6814	protein_coding	YES	CCDS73700.1	ENSP00000433433	Q9UJ55		UPI0001B3CB28	NM_019066.4	tolerated_low_confidence(0.11)		1/1		Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	62	23647261	23647261	T	A	1	0	0	0	0	1	0	0	0	9107	1464	51	4		4	MAGEL2	15	23647261	Missense_Mutation	SNP	T	C3N-00580_TP	1994777	23647261	78343928	782	20242											
NPAP1	0	.	GRCh38	chr15	24676611	24676611	+	Frame_Shift_Del	DEL	T	T	-																															acacacagccaggccggatgTgcccggcatcttggaaagcc																								rs764952896		C3N-00580_TP	C3N-00580_NB	T	T																c.744delT	p.Cys248TrpfsTer34	p.C248Wfs*34	ENST00000329468	1/1	105	73	32	142	142	0	sindel-varindel-pindel	NPAP1,frameshift_variant,p.Cys248TrpfsTer34,ENST00000329468,NM_018958.2;	-	ENST00000329468	Transcript	frameshift_variant	744/7526	744/3471	248/1156	C/X	tgT/tg	rs764952896	1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2			1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15,Pfam_domain:PF15229																	HIGH	1	deletion				1										PASS		.	.												-	7	5	62	24676611	24676611	T	-	1	0	1	0	1	0	0	0	0	10609	1702	59	0		0	NPAP1	15	24676611	Frame_Shift_Del	DEL	T	C3N-00580_TP	1029350	24676611	77314578	783	20243											
HERC2	0	.	GRCh38	chr15	28233486	28233486	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacaaacatccaccactGacttaggcaacgttctgtgc	11	10	6	14	1	2	1	0	1	2	0	3	1	3	1	2	1	4	2	2	1	4	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.4427C>A	p.Ser1476Ter	p.S1476*	ENST00000261609	29/93	157	144	13	183	183	0	varscan-mutect	HERC2,stop_gained,p.Ser1476Ter,ENST00000261609,NM_004667.5;HERC2,upstream_gene_variant,,ENST00000569335,;	T	ENST00000261609	Transcript	stop_gained	4536/15337	4427/14505	1476/4834	S/*	tCa/tAa		1		-1	HERC2	HGNC	HGNC:4868	protein_coding	YES	CCDS10021.1	ENSP00000261609	O95714		UPI00004578F7	NM_004667.5			29/93																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	62	28233486	28233486	G	T	1	0	0	0	0	0	1	0	0	6942	1294	45	2		2	HERC2	15	28233486	Nonsense_Mutation	SNP	G	C3N-00580_TP	3556875	28233486	73757703	784	20244											
ARHGAP11A	0	.	GRCh38	chr15	32637811	32637811	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcctatcggaaaaactcAattactaccaacaagtaaac	19	8	3	11	1	1	0	1	0	0	0	3	1	2	1	2	1	5	1	2	1	10	4	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.3038A>T	p.Gln1013Leu	p.Q1013L	ENST00000361627	12/12	62	43	19	67	67	0	strelka-varscan-mutect	ARHGAP11A,missense_variant,p.Gln1013Leu,ENST00000361627,NM_014783.4;ARHGAP11A,missense_variant,p.Gln824Leu,ENST00000565905,NM_001286479.1;ARHGAP11A,missense_variant,p.Gln824Leu,ENST00000543522,NM_001286480.1;ARHGAP11A,downstream_gene_variant,,ENST00000567348,NM_199357.1;ARHGAP11A,downstream_gene_variant,,ENST00000563864,;SCG5,upstream_gene_variant,,ENST00000300175,NM_001144757.1;SCG5,upstream_gene_variant,,ENST00000413748,NM_003020.3;SCG5,upstream_gene_variant,,ENST00000494364,;SCG5,upstream_gene_variant,,ENST00000497208,;ARHGAP11A,downstream_gene_variant,,ENST00000562481,;ARHGAP11A,downstream_gene_variant,,ENST00000564918,;	T	ENST00000361627	Transcript	missense_variant	3760/5898	3038/3072	1013/1023	Q/L	cAa/cTa		1		1	ARHGAP11A	HGNC	HGNC:15783	protein_coding	YES	CCDS10028.1	ENSP00000355090	Q6P4F7		UPI0000071553	NM_014783.4	deleterious(0.01)		12/12		hmmpanther:PTHR15670:SF5,hmmpanther:PTHR15670																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	32637811	32637811	A	T	1	0	0	0	0	1	0	0	0	987	130	5	4		4	ARHGAP11A	15	32637811	Missense_Mutation	SNP	A	C3N-00580_TP	4404325	32637811	69353378	785	20245											
EXD1	0	.	GRCh38	chr15	41184448	41184448	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctctttccctgctgtcTctgtcactaatttctttggc	3	19	5	14	0	5	0	1	0	4	0	8	0	6	0	2	1	1	1	2	1	1	4	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1202A>T	p.Glu401Val	p.E401V	ENST00000458580	12/12	161	147	14	263	263	0	strelka-varscan-mutect	EXD1,missense_variant,p.Glu343Val,ENST00000314992,NM_152596.3;EXD1,missense_variant,p.Glu401Val,ENST00000458580,NM_001286441.1;EXD1,non_coding_transcript_exon_variant,,ENST00000558881,;	A	ENST00000458580	Transcript	missense_variant	1468/2177	1202/1719	401/572	E/V	gAg/gTg		1		-1	EXD1	HGNC	HGNC:28507	protein_coding	YES	CCDS66738.1	ENSP00000415056	Q8NHP7		UPI000191512C	NM_001286441.1	tolerated(0.09)		12/12		hmmpanther:PTHR12124,hmmpanther:PTHR12124:SF42																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	62	41184448	41184448	T	A	1	0	0	0	0	1	0	0	0	5164	1551	54	4		4	EXD1	15	41184448	Missense_Mutation	SNP	T	C3N-00580_TP	8546637	41184448	60806741	786	20246											
CDAN1	0	.	GRCh38	chr15	42735661	42735661	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggtgggggtaggtgaCtgctgcagctgcttagagct	7	9	18	7	0	0	2	0	1	0	1	0	3	0	3	0	5	5	6	0	5	2	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.792G>T	p.Gln264His	p.Q264H	ENST00000356231	4/28	260	148	112	381	381	0	strelka-varscan-mutect	CDAN1,missense_variant,p.Gln264His,ENST00000356231,NM_138477.2;TTBK2,downstream_gene_variant,,ENST00000267890,NM_173500.3;CDAN1,downstream_gene_variant,,ENST00000563260,;CTD-2036P10.3,upstream_gene_variant,,ENST00000567456,;CDAN1,upstream_gene_variant,,ENST00000562465,;	A	ENST00000356231	Transcript	missense_variant	816/4637	792/3684	264/1227	Q/H	caG/caT		1		-1	CDAN1	HGNC	HGNC:1713	protein_coding	YES	CCDS32209.1	ENSP00000348564	Q8IWY9		UPI0000229BCB	NM_138477.2	tolerated(0.15)		4/28		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR28678																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	42735661	42735661	C	A	1	0	0	0	0	1	0	0	0	2757	564	20	2		2	CDAN1	15	42735661	Missense_Mutation	SNP	C	C3N-00580_TP	1551213	42735661	59255528	787	20247											
ATP8B4	0	.	GRCh38	chr15	49866485	49866485	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactggtatccaaggctatCtgtaaataaaatcaaatgca	17	11	6	7	0	2	0	1	0	1	0	3	0	3	0	1	2	2	4	1	2	9	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.3028-1G>T		p.X1010_splice	ENST00000284509		81	48	33	111	111	0	strelka-varscan-mutect	ATP8B4,splice_acceptor_variant,,ENST00000284509,NM_024837.3;ATP8B4,splice_acceptor_variant,,ENST00000559829,;ATP8B4,splice_acceptor_variant,,ENST00000558498,;ATP8B4,splice_acceptor_variant,,ENST00000560479,;ATP8B4,splice_acceptor_variant,,ENST00000559726,;ATP8B4,splice_acceptor_variant,,ENST00000558906,;ATP8B4,splice_acceptor_variant,,ENST00000557955,;ATP8B4,splice_acceptor_variant,,ENST00000558203,;ATP8B4,splice_acceptor_variant,,ENST00000560354,;	A	ENST00000284509	Transcript	splice_acceptor_variant	-/5676	3028/3579	1010/1192				1		-1	ATP8B4	HGNC	HGNC:13536	protein_coding	YES	CCDS32238.1	ENSP00000284509	Q8TF62		UPI0000055904	NM_024837.3				25/27																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	62	49866485	49866485	C	A	1	0	0	0	0	0	0	1	0	1350	927	32	2		2	ATP8B4	15	49866485	Splice_Site	SNP	C	C3N-00580_TP	7130824	49866485	52124704	788	20248											
TRPM7	0	.	GRCh38	chr15	50580909	50580909	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctatcttgtaaccaatcCttcagtaaaaaaaaaacaca	18	10	4	9	0	3	0	1	0	2	0	4	0	4	0	2	1	2	2	2	1	8	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.4558-1G>T		p.X1520_splice	ENST00000313478		26	21	5	61	61	0	strelka-mutect	TRPM7,splice_acceptor_variant,,ENST00000313478,NM_017672.5;TRPM7,splice_acceptor_variant,,ENST00000560955,NM_001301212.1;TRPM7,splice_acceptor_variant,,ENST00000561443,;TRPM7,splice_acceptor_variant,,ENST00000560849,;TRPM7,splice_acceptor_variant,,ENST00000558444,;	A	ENST00000313478	Transcript	splice_acceptor_variant	-/10400	4558/5598	1520/1865				1		-1	TRPM7	HGNC	HGNC:17994	protein_coding	YES	CCDS42035.1	ENSP00000320239	Q96QT4	A0A024R5V1	UPI0000071CBA	NM_017672.5				29/38																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	62	50580909	50580909	C	A	1	0	0	0	0	0	0	1	0	17097	695	24	2		2	TRPM7	15	50580909	Splice_Site	SNP	C	C3N-00580_TP	714424	50580909	51410280	789	20249											
DMXL2	0	.	GRCh38	chr15	51450265	51450265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcaaaaatgcagacgtgtCctttcctaccccccgagatt	10	11	7	13	2	1	2	1	0	0	2	3	3	3	2	5	0	2	1	5	0	3	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.8768G>T	p.Gly2923Val	p.G2923V	ENST00000543779	42/43	413	242	171	447	447	0	strelka-varscan-mutect	DMXL2,missense_variant,p.Gly2922Val,ENST00000251076,NM_015263.3;DMXL2,missense_variant,p.Gly2923Val,ENST00000543779,NM_001174116.1;DMXL2,missense_variant,p.Gly2286Val,ENST00000449909,NM_001174117.1;DMXL2,missense_variant,p.Gly1069Val,ENST00000560891,;DMXL2,3_prime_UTR_variant,,ENST00000559059,;RP11-707P17.1,intron_variant,,ENST00000561007,;DMXL2,non_coding_transcript_exon_variant,,ENST00000559769,;DMXL2,downstream_gene_variant,,ENST00000559868,;	A	ENST00000543779	Transcript	missense_variant	8858/10400	8768/9114	2923/3037	G/V	gGa/gTa		1		-1	DMXL2	HGNC	HGNC:2938	protein_coding	YES	CCDS53946.1	ENSP00000441858	Q8TDJ6		UPI00001FE4C2	NM_001174116.1	deleterious(0)		42/43		Gene3D:2.130.10.10,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF11,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	51450265	51450265	C	A	1	0	0	0	0	1	0	0	0	4404	855	30	2		2	DMXL2	15	51450265	Missense_Mutation	SNP	C	C3N-00580_TP	869356	51450265	50540924	790	20250											
UNC13C	0	.	GRCh38	chr15	54322054	54322054	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacagtttcaacaaacataCaggtttctgcctcagatcga	14	10	6	11	1	3	1	2	0	1	1	4	2	3	1	1	1	5	2	1	1	4	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.4384C>A	p.Gln1462Lys	p.Q1462K	ENST00000260323	13/32	138	100	38	206	206	0	strelka-varscan-mutect	UNC13C,missense_variant,p.Gln1462Lys,ENST00000260323,NM_001080534.1;UNC13C,non_coding_transcript_exon_variant,,ENST00000561210,;HNRNPA1P74,upstream_gene_variant,,ENST00000560782,;	A	ENST00000260323	Transcript	missense_variant	4384/12946	4384/6645	1462/2214	Q/K	Cag/Aag		1		1	UNC13C	HGNC	HGNC:23149	protein_coding	YES	CCDS45264.1	ENSP00000260323	Q8NB66		UPI0000DD82AB	NM_001080534.1	tolerated_low_confidence(0.24)		13/32		hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	54322054	54322054	C	A	1	0	0	0	0	1	0	0	0	17510	479	17	2		2	UNC13C	15	54322054	Missense_Mutation	SNP	C	C3N-00580_TP	2871789	54322054	47669135	791	20251											
PRTG	0	.	GRCh38	chr15	55627039	55627039	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggtatatcaagatgagaaCacagatgaggatgcaggtca	15	8	12	6	1	2	4	2	2	0	3	3	6	2	5	0	3	2	2	0	3	4	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2896G>T	p.Val966Phe	p.V966F	ENST00000389286	17/20	138	128	10	164	164	0	strelka-varscan-mutect	PRTG,missense_variant,p.Val966Phe,ENST00000389286,NM_173814.5;	A	ENST00000389286	Transcript	missense_variant	2944/11967	2896/3453	966/1150	V/F	Gtt/Ttt		1		-1	PRTG	HGNC	HGNC:26373	protein_coding	YES	CCDS42040.1	ENSP00000373937	Q2VWP7		UPI00001555A7	NM_173814.5	deleterious(0.02)		17/20		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF661,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	55627039	55627039	C	A	1	0	0	0	0	1	0	0	0	12788	478	17	2		2	PRTG	15	55627039	Missense_Mutation	SNP	C	C3N-00580_TP	1304985	55627039	46364150	792	20252											
LIPC	0	.	GRCh38	chr15	58563503	58563503	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgattttctttgtgtattcaAggggcaaaggaattgctagt	10	16	11	4	0	2	1	1	1	1	0	2	2	2	2	0	3	1	3	0	3	5	7	rs770068099		C3N-00580_TP	C3N-00580_NB	A	A																c.1170-2A>T		p.X390_splice	ENST00000299022		279	165	114	355	355	0	strelka-varscan-mutect	LIPC,splice_acceptor_variant,,ENST00000414170,;LIPC,splice_acceptor_variant,,ENST00000299022,NM_000236.2;LIPC,splice_acceptor_variant,,ENST00000356113,;LIPC,splice_acceptor_variant,,ENST00000433326,;LIPC,splice_acceptor_variant,,ENST00000559845,;	T	ENST00000299022	Transcript	splice_acceptor_variant	-/2751	1170/1500	390/499			rs770068099	1		1	LIPC	HGNC	HGNC:6619	protein_coding	YES	CCDS10166.1	ENSP00000299022	P11150		UPI000013E54D	NM_000236.2				7/8																		HIGH	1	SNV	1			1										PASS		rs770068099	.												T	5	4	62	58563503	58563503	A	T	1	0	0	0	0	0	0	1	0	8741	86	3	4		4	LIPC	15	58563503	Splice_Site	SNP	A	C3N-00580_TP	2936464	58563503	43427686	793	20253											
MYO9A	0	.	GRCh38	chr15	71898733	71898733	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggagatcctccaaggatCtgggtctctctcttacaagc	9	11	10	11	0	3	1	0	0	3	1	7	4	5	2	2	3	2	0	2	3	3	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.3770G>T	p.Arg1257Ile	p.R1257I	ENST00000356056	25/42	170	97	73	188	188	0	strelka-varscan-mutect	MYO9A,missense_variant,p.Arg1257Ile,ENST00000356056,NM_006901.3;MYO9A,missense_variant,p.Arg1257Ile,ENST00000564571,;MYO9A,missense_variant,p.Arg1257Ile,ENST00000444904,;MYO9A,missense_variant,p.Arg877Ile,ENST00000566885,;MYO9A,missense_variant,p.Arg36Ile,ENST00000561618,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563542,;MYO9A,upstream_gene_variant,,ENST00000568781,;	A	ENST00000356056	Transcript	missense_variant	4243/12411	3770/7647	1257/2548	R/I	aGa/aTa		1		-1	MYO9A	HGNC	HGNC:7608	protein_coding	YES	CCDS10239.1	ENSP00000348349	B2RTY4		UPI000013D213	NM_006901.3	deleterious_low_confidence(0)		25/42																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	71898733	71898733	C	A	1	0	0	0	0	1	0	0	0	10085	913	32	2		2	MYO9A	15	71898733	Missense_Mutation	SNP	C	C3N-00580_TP	13335230	71898733	30092456	794	20254											
BBS4	0	.	GRCh38	chr15	72712243	72712243	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatttttctccctctttcaGgctgttatcaaagaacagct	9	15	6	11	0	4	1	2	0	2	1	5	1	4	1	1	1	2	4	1	1	3	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.157-1G>T		p.X53_splice	ENST00000268057		235	131	104	318	316	2	strelka-varscan-mutect	BBS4,splice_acceptor_variant,,ENST00000268057,NM_033028.4;BBS4,splice_acceptor_variant,,ENST00000395205,NM_001252678.1;BBS4,splice_acceptor_variant,,ENST00000569338,;BBS4,splice_acceptor_variant,,ENST00000566829,;BBS4,splice_acceptor_variant,,ENST00000564239,;BBS4,upstream_gene_variant,,ENST00000569001,;BBS4,splice_acceptor_variant,,ENST00000566400,;BBS4,splice_acceptor_variant,,ENST00000567279,;BBS4,splice_acceptor_variant,,ENST00000562084,;BBS4,splice_acceptor_variant,,ENST00000561914,;BBS4,splice_acceptor_variant,,ENST00000565160,;BBS4,splice_acceptor_variant,,ENST00000569440,;BBS4,splice_acceptor_variant,,ENST00000566938,;BBS4,splice_acceptor_variant,,ENST00000563600,;	T	ENST00000268057	Transcript	splice_acceptor_variant	-/2490	157/1560	53/519				1		1	BBS4	HGNC	HGNC:969	protein_coding	YES	CCDS10246.1	ENSP00000268057	Q96RK4	A0A0S2Z3A9	UPI000013D78E	NM_033028.4				3/15																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	62	72712243	72712243	G	T	1	0	0	0	0	0	0	1	0	1486	1014	35	2		2	BBS4	15	72712243	Splice_Site	SNP	G	C3N-00580_TP	813510	72712243	29278946	795	20255											
LMAN1L	0	.	GRCh38	chr15	74816443	74816443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggccgtgtggtacacccGgggcaggggccatgtaggct	6	6	18	11	2	0	0	0	0	0	0	0	0	0	0	3	7	1	5	3	7	2	2			C3N-00580_TP	C3N-00580_NB	G	G																c.347G>T	p.Arg116Leu	p.R116L	ENST00000309664	3/14	23	11	12	44	44	0	strelka-varscan-mutect	LMAN1L,missense_variant,p.Arg116Leu,ENST00000309664,NM_021819.2;LMAN1L,missense_variant,p.Arg116Leu,ENST00000379709,;LMAN1L,missense_variant,p.Arg72Leu,ENST00000562810,;LMAN1L,upstream_gene_variant,,ENST00000567848,;RP11-414J4.2,non_coding_transcript_exon_variant,,ENST00000488000,;LMAN1L,non_coding_transcript_exon_variant,,ENST00000470711,;LMAN1L,non_coding_transcript_exon_variant,,ENST00000568467,;LMAN1L,non_coding_transcript_exon_variant,,ENST00000570147,;LMAN1L,intron_variant,,ENST00000456603,;RP11-414J4.2,upstream_gene_variant,,ENST00000564823,;LMAN1L,upstream_gene_variant,,ENST00000565585,;	T	ENST00000309664	Transcript	missense_variant	486/1873	347/1581	116/526	R/L	cGg/cTg	COSM3672115	1		1	LMAN1L	HGNC	HGNC:6632	protein_coding	YES	CCDS10270.1	ENSP00000310431	Q9HAT1		UPI00001AEF1F	NM_021819.2	tolerated(0.07)		3/14		Gene3D:2.60.120.200,Pfam_domain:PF03388,PROSITE_profiles:PS51328,hmmpanther:PTHR12223,hmmpanther:PTHR12223:SF31,Superfamily_domains:SSF49899											1						MODERATE	1	SNV	1		1	1										PASS		rs1366395705	.												T	3	4	62	74816443	74816443	G	T	1	0	0	0	0	1	0	0	0	8761	1116	39	1		1	LMAN1L	15	74816443	Missense_Mutation	SNP	G	C3N-00580_TP	2104200	74816443	27174746	796	20256											
SCAMP2	0	.	GRCh38	chr15	74852086	74852086	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccatgcaagttggctacaGtgttctgcagctcccgctcc	7	11	9	14	1	1	0	0	0	1	0	3	0	3	0	3	1	5	7	3	1	3	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.326C>G	p.Thr109Ser	p.T109S	ENST00000268099	4/9	55	33	22	114	114	0	strelka-varscan-mutect	SCAMP2,missense_variant,p.Thr69Ser,ENST00000566480,;SCAMP2,missense_variant,p.Thr109Ser,ENST00000268099,NM_005697.3;SCAMP2,missense_variant,p.Thr152Ser,ENST00000564529,;SCAMP2,missense_variant,p.Thr86Ser,ENST00000562363,;SCAMP2,5_prime_UTR_variant,,ENST00000565345,;SCAMP2,missense_variant,p.Thr109Ser,ENST00000569904,;SCAMP2,non_coding_transcript_exon_variant,,ENST00000563829,;SCAMP2,non_coding_transcript_exon_variant,,ENST00000569251,;SCAMP2,non_coding_transcript_exon_variant,,ENST00000567638,;SCAMP2,non_coding_transcript_exon_variant,,ENST00000566557,;SCAMP2,intron_variant,,ENST00000563663,;SCAMP2,downstream_gene_variant,,ENST00000569124,;	C	ENST00000268099	Transcript	missense_variant	436/2453	326/990	109/329	T/S	aCt/aGt		1		-1	SCAMP2	HGNC	HGNC:10564	protein_coding	YES	CCDS10271.1	ENSP00000268099	O15127	A0A140VK92	UPI00001355FD	NM_005697.3	tolerated(0.85)		4/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10687,hmmpanther:PTHR10687:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	74852086	74852086	G	C	1	0	0	0	0	1	0	0	0	14138	1029	36	4		4	SCAMP2	15	74852086	Missense_Mutation	SNP	G	C3N-00580_TP	35643	74852086	27139103	797	20257											
CSPG4	0	.	GRCh38	chr15	75689732	75689732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctccactcaagccaggCtgtgcccccctcggccacca	7	6	8	20	1	1	0	1	0	0	0	3	0	2	0	8	2	3	1	8	2	1	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1333G>T	p.Ala445Ser	p.A445S	ENST00000308508	3/10	155	132	23	285	285	0	strelka-varscan-mutect	CSPG4,missense_variant,p.Ala445Ser,ENST00000308508,NM_001897.4;	A	ENST00000308508	Transcript	missense_variant	1426/8290	1333/6969	445/2322	A/S	Gcc/Tcc		1		-1	CSPG4	HGNC	HGNC:2466	protein_coding	YES	CCDS10284.1	ENSP00000312506	Q6UVK1		UPI00001AEEB6	NM_001897.4	deleterious(0)		3/10		hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF16																	MODERATE	1	SNV	1			1										PASS		rs1386480849	.												A	3	1	62	75689732	75689732	C	A	1	0	0	0	0	1	0	0	0	3761	797	28	2		2	CSPG4	15	75689732	Missense_Mutation	SNP	C	C3N-00580_TP	837646	75689732	26301457	798	20258											
FES	0	.	GRCh38	chr15	90887259	90887259	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgctcaccacaaccgctAtgtgctgggcgtgcgggctg	5	10	13	13	3	1	0	1	0	0	0	1	0	1	0	2	2	4	4	2	2	2	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.557A>G	p.Tyr186Cys	p.Y186C	ENST00000328850	5/19	155	137	18	189	189	0	strelka-varscan-mutect	FES,missense_variant,p.Tyr186Cys,ENST00000328850,NM_002005.3;FES,missense_variant,p.Tyr128Cys,ENST00000414248,NM_001143785.1;FES,missense_variant,p.Tyr128Cys,ENST00000394300,NM_001143783.1;FES,missense_variant,p.Tyr186Cys,ENST00000444422,NM_001143784.1;FES,missense_variant,p.Tyr128Cys,ENST00000394302,;FURIN,downstream_gene_variant,,ENST00000618099,NM_001289824.1;FURIN,downstream_gene_variant,,ENST00000268171,NM_002569.3;FURIN,downstream_gene_variant,,ENST00000610579,NM_001289823.1;FES,downstream_gene_variant,,ENST00000452243,;FES,downstream_gene_variant,,ENST00000559355,;FES,downstream_gene_variant,,ENST00000443697,;FES,downstream_gene_variant,,ENST00000416779,;FES,upstream_gene_variant,,ENST00000448367,;FES,missense_variant,p.Tyr186Cys,ENST00000464684,;FES,3_prime_UTR_variant,,ENST00000470152,;FES,non_coding_transcript_exon_variant,,ENST00000497945,;FES,upstream_gene_variant,,ENST00000496379,;FES,downstream_gene_variant,,ENST00000481665,;FES,upstream_gene_variant,,ENST00000494259,;FES,upstream_gene_variant,,ENST00000462476,;	G	ENST00000328850	Transcript	missense_variant	699/2829	557/2469	186/822	Y/C	tAt/tGt		1		1	FES	HGNC	HGNC:3657	protein_coding	YES	CCDS10365.1	ENSP00000331504	P07332	A0A024RC92	UPI0000001C30	NM_002005.3	deleterious(0)		5/19		PROSITE_profiles:PS51741,hmmpanther:PTHR24418:SF197,hmmpanther:PTHR24418,PIRSF_domain:PIRSF000632,Superfamily_domains:SSF103657																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	90887259	90887259	A	G	1	0	0	0	0	1	0	0	0	5683	449	16	5		5	FES	15	90887259	Missense_Mutation	SNP	A	C3N-00580_TP	15197527	90887259	11103930	799	20259											
SNRPA1	0	.	GRCh38	chr15	101292029	101292029	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcctgatcaagtcccTcacctatacggctaaaataa	14	8	7	12	1	2	2	2	1	0	1	3	2	3	2	3	1	2	2	3	1	6	4	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.242A>T	p.Glu81Val	p.E81V	ENST00000254193	3/9	188	176	12	311	311	0	varscan-mutect	SNRPA1,missense_variant,p.Glu81Val,ENST00000254193,NM_003090.2;SNRPA1,missense_variant,p.Glu81Val,ENST00000626000,;SNRPA1,5_prime_UTR_variant,,ENST00000560496,;SNRPA1,upstream_gene_variant,,ENST00000559686,;RP11-299G20.2,upstream_gene_variant,,ENST00000558838,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000560856,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000560987,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000558020,;SNRPA1,intron_variant,,ENST00000394082,;SNRPA1,intron_variant,,ENST00000540017,;SNRPA1,missense_variant,p.Glu81Val,ENST00000559309,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000558036,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000558059,;SNRPA1,intron_variant,,ENST00000560383,;SNRPA1,upstream_gene_variant,,ENST00000560433,;SNRPA1,downstream_gene_variant,,ENST00000561187,;	A	ENST00000254193	Transcript	missense_variant	315/1055	242/768	81/255	E/V	gAg/gTg		1		-1	SNRPA1	HGNC	HGNC:11152	protein_coding	YES	CCDS10391.1	ENSP00000254193	P09661		UPI000006DD72	NM_003090.2	deleterious(0.02)		3/9		PROSITE_profiles:PS51450,hmmpanther:PTHR10552,Gene3D:3.80.10.10,Pfam_domain:PF14580,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	101292029	101292029	T	A	1	0	0	0	0	1	0	0	0	15180	1551	54	4		4	SNRPA1	15	101292029	Missense_Mutation	SNP	T	C3N-00580_TP	10404770	101292029	699160	800	20260											
SSTR5	0	.	GRCh38	chr16	1078928	1078928	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctccccgggggctgcCtctggaggcggtgacaacag	5	6	15	15	2	1	1	0	1	1	0	3	2	3	2	5	5	2	1	5	5	1	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.60C>T	p.=	p.A20A	ENST00000293897	1/1	250	135	115	229	229	0	strelka-varscan-mutect	SSTR5,synonymous_variant,p.=,ENST00000293897,NM_001172560.1,NM_001053.3;SSTR5-AS1,upstream_gene_variant,,ENST00000569832,;SSTR5-AS1,upstream_gene_variant,,ENST00000566499,;SSTR5-AS1,upstream_gene_variant,,ENST00000624643,;	T	ENST00000293897	Transcript	synonymous_variant	148/1362	60/1095	20/364	A	gcC/gcT		1		1	SSTR5	HGNC	HGNC:11334	protein_coding	YES	CCDS10429.1	ENSP00000293897	P35346		UPI00000015DC	NM_001172560.1,NM_001053.3			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF20																	LOW		SNV				1										PASS		.	.												T	2	4	62	1078928	1078928	C	T	1	0	0	0	0	0	0	0	1	15578	668	24	3		3	SSTR5	16	1078928	Silent	SNP	C	C3N-00580_TP		1078928	89259417	801	20261											
PKD1	0	.	GRCh38	chr16	2106431	2106431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaccttggtggtgagggCgtgcacagcgcccagtggga	6	7	18	10	2	0	1	0	1	0	0	0	2	0	2	2	4	3	2	2	4	0	1	rs567983155		C3N-00580_TP	C3N-00580_NB	C	C																c.7456G>C	p.Ala2486Pro	p.A2486P	ENST00000262304	18/46	228	207	21	277	277	0	varscan-mutect	PKD1,missense_variant,p.Ala2486Pro,ENST00000262304,NM_001009944.2;PKD1,missense_variant,p.Ala2486Pro,ENST00000423118,NM_000296.3;PKD1,upstream_gene_variant,,ENST00000567946,;PKD1,downstream_gene_variant,,ENST00000488185,;PKD1,downstream_gene_variant,,ENST00000483024,;PKD1,downstream_gene_variant,,ENST00000612014,;PKD1,non_coding_transcript_exon_variant,,ENST00000483558,;PKD1,upstream_gene_variant,,ENST00000561991,;PKD1,downstream_gene_variant,,ENST00000473780,;PKD1,upstream_gene_variant,,ENST00000475889,;PKD1,downstream_gene_variant,,ENST00000468674,;PKD1,upstream_gene_variant,,ENST00000564865,;PKD1,missense_variant,p.Ala715Pro,ENST00000487932,;PKD1,non_coding_transcript_exon_variant,,ENST00000486339,;PKD1,non_coding_transcript_exon_variant,,ENST00000496574,;PKD1,non_coding_transcript_exon_variant,,ENST00000483731,;PKD1,non_coding_transcript_exon_variant,,ENST00000415938,;PKD1,non_coding_transcript_exon_variant,,ENST00000565639,;PKD1,downstream_gene_variant,,ENST00000568591,;PKD1,upstream_gene_variant,,ENST00000471603,;PKD1,upstream_gene_variant,,ENST00000480227,;PKD1,upstream_gene_variant,,ENST00000562297,;PKD1,upstream_gene_variant,,ENST00000474088,;PKD1,downstream_gene_variant,,ENST00000569983,;PKD1,upstream_gene_variant,,ENST00000564890,;	G	ENST00000262304	Transcript	missense_variant	7665/14138	7456/12912	2486/4303	A/P	Gcc/Ccc	rs567983155	1		-1	PKD1	HGNC	HGNC:9008	protein_coding	YES	CCDS32369.1	ENSP00000262304	P98161		UPI00001B0454	NM_001009944.2	deleterious(0.01)		18/46		Pfam_domain:PF02010,PROSITE_profiles:PS51111,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF143,TIGRFAM_domain:TIGR00864																	MODERATE	1	SNV	1			1										PASS		rs567983155	.												G	3	3	62	2106431	2106431	C	G	1	0	0	0	0	1	0	0	0	12059	768	27	4		4	PKD1	16	2106431	Missense_Mutation	SNP	C	C3N-00580_TP	1027503	2106431	88231914	802	20262											
PRSS21	0	.	GRCh38	chr16	2821426	2821426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtatcagattggagtcGtgagctggggagtgggctgt	6	12	19	4	1	1	2	1	1	0	1	2	4	1	4	0	5	1	3	0	5	1	2	rs766212468		C3N-00580_TP	C3N-00580_NB	G	G																c.766G>A	p.Val256Met	p.V256M	ENST00000005995	6/6	368	341	27	473	473	0	strelka-varscan-mutect	PRSS21,missense_variant,p.Val242Met,ENST00000450020,NM_144957.2;PRSS21,missense_variant,p.Val256Met,ENST00000005995,NM_144956.2,NM_006799.3;PRSS21,missense_variant,p.Val198Met,ENST00000574265,;PRSS21,3_prime_UTR_variant,,ENST00000574813,NM_001270452.1;PRSS21,intron_variant,,ENST00000575739,;PRSS21,downstream_gene_variant,,ENST00000577043,;PRSS21,downstream_gene_variant,,ENST00000570594,;PRSS21,downstream_gene_variant,,ENST00000575199,;PRSS21,downstream_gene_variant,,ENST00000570629,;PRSS21,downstream_gene_variant,,ENST00000571141,;EIF1P4,downstream_gene_variant,,ENST00000572664,;	A	ENST00000005995	Transcript	missense_variant	808/1101	766/945	256/314	V/M	Gtg/Atg	rs766212468,COSM969505	1		1	PRSS21	HGNC	HGNC:9485	protein_coding	YES	CCDS10478.1	ENSP00000005995	Q9Y6M0		UPI000004813E	NM_144956.2,NM_006799.3	deleterious(0)		6/6		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF173,SMART_domains:SM00020,Superfamily_domains:SSF50494											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs766212468	.												A	3	1	62	2821426	2821426	G	A	1	0	0	0	0	1	0	0	0	12765	1145	40	1		1	PRSS21	16	2821426	Missense_Mutation	SNP	G	C3N-00580_TP	714995	2821426	87516919	803	20263											
ZNF200	0	.	GRCh38	chr16	3224034	3224034	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgaagcacaaactccTcattctttgggaaggttttc	11	12	9	9	0	2	2	1	1	1	1	4	3	3	3	1	2	2	3	1	2	3	4	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1046A>T	p.Glu349Val	p.E349V	ENST00000431561	5/5	245	130	115	248	248	0	strelka-varscan-mutect	ZNF200,missense_variant,p.Glu349Val,ENST00000431561,NM_003454.3;ZNF200,missense_variant,p.Glu349Val,ENST00000414144,NM_198088.2;ZNF200,missense_variant,p.Glu348Val,ENST00000396871,NM_001145446.1,NM_001145448.1;ZNF200,missense_variant,p.Glu348Val,ENST00000396868,NM_198087.2;ZNF200,missense_variant,p.Glu348Val,ENST00000396870,NM_001145447.1;ZNF200,missense_variant,p.Glu348Val,ENST00000575948,;AJ003147.9,intron_variant,,ENST00000576468,;ZNF200,non_coding_transcript_exon_variant,,ENST00000575285,;	A	ENST00000431561	Transcript	missense_variant	1659/3348	1046/1188	349/395	E/V	gAg/gTg		1		-1	ZNF200	HGNC	HGNC:12993	protein_coding	YES	CCDS10497.1	ENSP00000395723	P98182		UPI00001D89D6	NM_003454.3	tolerated(0.18)		5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR26374,hmmpanther:PTHR26374:SF156,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	3224034	3224034	T	A	1	0	0	0	0	1	0	0	0	18339	1551	54	4		4	ZNF200	16	3224034	Missense_Mutation	SNP	T	C3N-00580_TP	402608	3224034	87114311	804	20264											
MEFV	0	.	GRCh38	chr16	3243870	3243870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacttaccagcatgtgcCtgagcgccaatcagctccgg	8	7	12	14	2	1	1	1	1	0	0	2	1	2	1	4	2	5	3	4	2	2	1	rs144122901		C3N-00580_TP	C3N-00580_NB	C	C																c.1782G>T	p.Gln594His	p.Q594H	ENST00000219596	9/10	501	445	56	578	578	0	strelka-varscan-mutect	MEFV,missense_variant,p.Gln594His,ENST00000219596,NM_000243.2;MEFV,missense_variant,p.Gln414His,ENST00000339854,;MEFV,missense_variant,p.Gly442Cys,ENST00000541159,NM_001198536.1;MEFV,missense_variant,p.Gln383His,ENST00000536379,;MEFV,3_prime_UTR_variant,,ENST00000542898,;MEFV,3_prime_UTR_variant,,ENST00000537682,;MEFV,3_prime_UTR_variant,,ENST00000538326,;MEFV,3_prime_UTR_variant,,ENST00000536980,;MEFV,3_prime_UTR_variant,,ENST00000570511,;MEFV,3_prime_UTR_variant,,ENST00000539145,;MEFV,3_prime_UTR_variant,,ENST00000576315,;MEFV,3_prime_UTR_variant,,ENST00000574583,;MEFV,3_prime_UTR_variant,,ENST00000572244,;MEFV,downstream_gene_variant,,ENST00000539154,;	A	ENST00000219596	Transcript	missense_variant	1822/3499	1782/2346	594/781	Q/H	caG/caT	rs144122901	1		-1	MEFV	HGNC	HGNC:6998	protein_coding	YES	CCDS10498.1	ENSP00000219596	O15553		UPI000004C0CA	NM_000243.2	deleterious(0.02)		9/10		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs144122901	.												A	3	1	62	3243870	3243870	C	A	1	0	0	0	0	1	0	0	0	9399	681	24	2		2	MEFV	16	3243870	Missense_Mutation	SNP	C	C3N-00580_TP	19836	3243870	87094475	805	20265											
RBFOX1	0	.	GRCh38	chr16	7518353	7518353	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactccgagcagagcccggcGgacacgagcgctcagaccgt	9	3	13	16	6	1	2	1	0	0	2	2	5	2	3	3	2	3	2	3	2	0	0			C3N-00580_TP	C3N-00580_NB	G	G																c.363G>A	p.=	p.A121A	ENST00000422070	5/16	152	109	43	132	132	0	strelka-mutect	RBFOX1,synonymous_variant,p.=,ENST00000550418,NM_018723.3;RBFOX1,synonymous_variant,p.=,ENST00000340209,;RBFOX1,synonymous_variant,p.=,ENST00000620507,;RBFOX1,synonymous_variant,p.=,ENST00000547372,;RBFOX1,synonymous_variant,p.=,ENST00000355637,NM_145893.2;RBFOX1,synonymous_variant,p.=,ENST00000311745,NM_145891.2;RBFOX1,synonymous_variant,p.=,ENST00000553186,NM_001142333.1;RBFOX1,synonymous_variant,p.=,ENST00000547605,;RBFOX1,synonymous_variant,p.=,ENST00000422070,NM_001308117.1;RBFOX1,synonymous_variant,p.=,ENST00000535565,;RBFOX1,synonymous_variant,p.=,ENST00000436368,NM_145892.2;RBFOX1,synonymous_variant,p.=,ENST00000547338,NM_001142334.1;RBFOX1,synonymous_variant,p.=,ENST00000552089,;RBFOX1,synonymous_variant,p.=,ENST00000551752,;RBFOX1,synonymous_variant,p.=,ENST00000570626,;RBFOX1,non_coding_transcript_exon_variant,,ENST00000569889,;	A	ENST00000422070	Transcript	synonymous_variant	559/1684	363/1278	121/425	A	gcG/gcA	COSM4062893,COSM4062894,COSM4062895,COSM4062896	1		1	RBFOX1	HGNC	HGNC:18222	protein_coding	YES	CCDS76818.1	ENSP00000391269		B7Z1U7	UPI0001914C99	NM_001308117.1			5/16		hmmpanther:PTHR15597:SF26,hmmpanther:PTHR15597,PIRSF_domain:PIRSF037932											1,1,1,1						LOW	1	SNV	2		1,1,1,1	1										PASS		rs1490574094	.												A	2	1	62	7518353	7518353	G	A	1	0	0	0	0	0	0	0	1	13271	1103	39	1		1	RBFOX1	16	7518353	Silent	SNP	G	C3N-00580_TP	4274483	7518353	82819992	806	20266											
NOMO1	0	.	GRCh38	chr16	14884457	14884457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagtggaaatgtgatcacttCctctgaataccttcctacat	12	13	6	10	0	2	2	1	2	1	0	4	3	4	3	3	1	2	0	3	1	5	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.3197C>T	p.Ser1066Phe	p.S1066F	ENST00000287667	27/31	234	128	106	294	294	0	strelka-varscan-mutect	NOMO1,missense_variant,p.Ser1066Phe,ENST00000287667,NM_014287.3;NOMO1,missense_variant,p.Ser1066Phe,ENST00000620755,;NOMO1,missense_variant,p.Ser899Phe,ENST00000610363,;NOMO1,upstream_gene_variant,,ENST00000565655,;NOMO1,upstream_gene_variant,,ENST00000566823,;	T	ENST00000287667	Transcript	missense_variant	3368/4355	3197/3669	1066/1222	S/F	tCc/tTc		1		1	NOMO1	HGNC	HGNC:30060	protein_coding	YES	CCDS10556.1	ENSP00000287667	Q15155		UPI000013D37E	NM_014287.3	deleterious(0.01)		27/31		hmmpanther:PTHR23303																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	14884457	14884457	C	T	1	0	0	0	0	1	0	0	0	10575	855	30	3		3	NOMO1	16	14884457	Missense_Mutation	SNP	C	C3N-00580_TP	7366104	14884457	75453888	807	20267											
NPIPA5	0	.	GRCh38	chr16	15365289	15365289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacggttaccaacagggatgGgactgtgatgcttgtaggca	10	9	14	8	1	0	1	0	1	0	0	0	3	0	3	1	4	3	4	1	4	3	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.839C>A	p.Pro280His	p.P280H	ENST00000534094	7/7	175	89	86	193	192	1	strelka-varscan-mutect	NPIPA5,missense_variant,p.Pro280His,ENST00000534094,;NPIPA5,intron_variant,,ENST00000360151,NM_001277325.1;NPIPA5,intron_variant,,ENST00000543801,;RP11-72I8.2,downstream_gene_variant,,ENST00000611162,;	T	ENST00000534094	Transcript	missense_variant	839/954	839/954	280/317	P/H	cCc/cAc		1		-1	NPIPA5	HGNC	HGNC:41980	protein_coding			ENSP00000435611		E9PJ88	UPI0001A5E893		deleterious_low_confidence(0)		7/7																			MODERATE		SNV	5			1										PASS		.	.												T	3	4	62	15365289	15365289	G	T	1	0	0	0	0	1	0	0	0	10634	1232	43	2		2	NPIPA5	16	15365289	Missense_Mutation	SNP	G	C3N-00580_TP	480832	15365289	74973056	808	20268											
C16orf62	0	.	GRCh38	chr16	19555551	19555551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgaaaatgaagcctgtgCtgtgcggagcgtcgcctgcc	8	8	14	11	3	0	2	0	2	0	0	1	3	0	3	3	1	6	2	3	1	3	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.89C>A	p.Ala30Asp	p.A30D	ENST00000251143	1/31	388	343	45	404	403	1	strelka-varscan-mutect	C16orf62,missense_variant,p.Ala30Asp,ENST00000251143,NM_020314.5;C16orf62,missense_variant,p.Ala30Asp,ENST00000438132,;C16orf62,missense_variant,p.Ala30Asp,ENST00000542263,NM_001300743.1;C16orf62,intron_variant,,ENST00000544670,;CCP110,downstream_gene_variant,,ENST00000396212,NM_001323572.1,NM_001323571.1,NM_014711.4;CCP110,downstream_gene_variant,,ENST00000381396,NM_001323569.1,NM_001199022.1;CCP110,downstream_gene_variant,,ENST00000396208,;C16orf62,upstream_gene_variant,,ENST00000417362,;C16orf62,upstream_gene_variant,,ENST00000513947,;C16orf62,upstream_gene_variant,,ENST00000567245,;C16orf62,missense_variant,p.Ala30Asp,ENST00000539322,;CCP110,downstream_gene_variant,,ENST00000562616,;CCP110,downstream_gene_variant,,ENST00000567451,;C16orf62,upstream_gene_variant,,ENST00000543460,;C16orf62,upstream_gene_variant,,ENST00000537186,;	A	ENST00000251143	Transcript	missense_variant	137/3894	89/3159	30/1052	A/D	gCt/gAt		1		1	C16orf62	HGNC	HGNC:24641	protein_coding	YES	CCDS32397.2	ENSP00000251143		E7EWW0	UPI0001E1129C	NM_020314.5	deleterious_low_confidence(0)		1/31																			MODERATE	1	SNV	1			1										PASS		rs1244614135	.												A	3	1	62	19555551	19555551	C	A	1	0	0	0	0	1	0	0	0	1861	797	28	2		2	C16orf62	16	19555551	Missense_Mutation	SNP	C	C3N-00580_TP	4190262	19555551	70782794	809	20269											
GP2	0	.	GRCh38	chr16	20315988	20315988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccccaaatctagaaccCgggctaggtcgatggccggt	8	7	14	12	3	1	1	0	0	1	1	2	2	1	1	4	5	1	1	4	5	4	2	rs770032956		C3N-00580_TP	C3N-00580_NB	C	C																c.1478G>T	p.Arg493Leu	p.R493L	ENST00000381362	10/12	301	165	136	397	396	1	strelka-varscan-mutect	GP2,missense_variant,p.Arg490Leu,ENST00000302555,NM_001502.3;GP2,missense_variant,p.Arg493Leu,ENST00000381362,NM_001007240.2;GP2,missense_variant,p.Arg346Leu,ENST00000381360,NM_001007241.2;GP2,missense_variant,p.Arg343Leu,ENST00000341642,NM_001007242.2;GP2,downstream_gene_variant,,ENST00000572347,;GP2,downstream_gene_variant,,ENST00000575582,;GP2,downstream_gene_variant,,ENST00000572478,;GP2,downstream_gene_variant,,ENST00000573897,;GP2,downstream_gene_variant,,ENST00000574982,;	A	ENST00000381362	Transcript	missense_variant	1555/2425	1478/1614	493/537	R/L	cGg/cTg	rs770032956	1		-1	GP2	HGNC	HGNC:4441	protein_coding	YES	CCDS42128.1	ENSP00000370767	P55259		UPI000059D333	NM_001007240.2	tolerated(0.11)		10/12		hmmpanther:PTHR24044:SF284,hmmpanther:PTHR24044																	MODERATE	1	SNV	1			1										PASS		rs770032956	.												A	3	1	62	20315988	20315988	C	A	1	0	0	0	0	1	0	0	0	6477	652	23	1		1	GP2	16	20315988	Missense_Mutation	SNP	C	C3N-00580_TP	760437	20315988	70022357	810	20270											
UMOD	0	.	GRCh38	chr16	20333335	20333335	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgaaaagtcagggtcaaGgtggccgagagaagcagagg	14	4	16	7	1	2	3	2	1	0	2	2	5	2	3	1	4	1	1	1	4	4	0	rs766780246		C3N-00580_TP	C3N-00580_NB	G	G																c.2001C>A	p.=	p.T667T	ENST00000396134	12/12	783	583	200	715	714	1	strelka-varscan-mutect	UMOD,synonymous_variant,p.=,ENST00000302509,NM_001008389.2,NM_003361.3;UMOD,synonymous_variant,p.=,ENST00000396134,NM_001278614.1;UMOD,synonymous_variant,p.=,ENST00000396138,;UMOD,synonymous_variant,p.=,ENST00000570689,;UMOD,downstream_gene_variant,,ENST00000570331,;	T	ENST00000396134	Transcript	synonymous_variant	2125/2408	2001/2022	667/673	T	acC/acA	rs766780246,COSM4870693,COSM968021	1		-1	UMOD	HGNC	HGNC:12559	protein_coding	YES	CCDS61876.1	ENSP00000379438	P07911		UPI000059D336	NM_001278614.1			12/12		Low_complexity_(Seg):seg,hmmpanther:PTHR24044:SF263,hmmpanther:PTHR24044											0,1,1						LOW	1	SNV	2		0,1,1	1										PASS		rs766780246	.												T	2	4	62	20333335	20333335	G	T	1	0	0	0	0	0	0	0	1	17503	987	35	2		2	UMOD	16	20333335	Silent	SNP	G	C3N-00580_TP	17347	20333335	70005010	811	20271											
UMOD	0	.	GRCh38	chr16	20337292	20337292	+	Missense_Mutation	SNP	G	G	T																															gggaggggagtcaactcacaGgcttgcacttttcattcatg																										C3N-00580_TP	C3N-00580_NB	G	G																c.1838C>A	p.Pro613His	p.P613H	ENST00000396134	9/12	331	274	57	305	305	0	strelka-varscan-mutect	UMOD,missense_variant,p.Pro580His,ENST00000302509,NM_001008389.2,NM_003361.3;UMOD,missense_variant,p.Pro613His,ENST00000396134,NM_001278614.1;UMOD,missense_variant,p.Pro629His,ENST00000396138,;UMOD,missense_variant,p.Pro580His,ENST00000570689,;UMOD,splice_region_variant,,ENST00000570331,;	T	ENST00000396134	Transcript	missense_variant,splice_region_variant	1962/2408	1838/2022	613/673	P/H	cCt/cAt	COSM5298533,COSM5298534	1		-1	UMOD	HGNC	HGNC:12559	protein_coding	YES	CCDS61876.1	ENSP00000379438	P07911		UPI000059D336	NM_001278614.1	deleterious(0)		9/12		PROSITE_profiles:PS51034,hmmpanther:PTHR24044:SF263,hmmpanther:PTHR24044,Pfam_domain:PF00100,SMART_domains:SM00241											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												T	3	4	62	20337292	20337292	G	T	1	0	0	0	0	1	0	0	0	17503	1014	35	2		2	UMOD	16	20337292	Missense_Mutation	SNP	G	C3N-00580_TP	3957	20337292	70001053	812	20272	429	2									
UMOD	0	.	GRCh38	chr16	20337293	20337293	+	Missense_Mutation	SNP	G	G	T																															ggaggggagtcaactcacagGcttgcacttttcattcatgg																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1837C>A	p.Pro613Thr	p.P613T	ENST00000396134	9/12	338	281	57	307	307	0	strelka-varscan-mutect	UMOD,missense_variant,p.Pro580Thr,ENST00000302509,NM_001008389.2,NM_003361.3;UMOD,missense_variant,p.Pro613Thr,ENST00000396134,NM_001278614.1;UMOD,missense_variant,p.Pro629Thr,ENST00000396138,;UMOD,missense_variant,p.Pro580Thr,ENST00000570689,;UMOD,splice_region_variant,,ENST00000570331,;	T	ENST00000396134	Transcript	missense_variant,splice_region_variant	1961/2408	1837/2022	613/673	P/T	Cct/Act		1		-1	UMOD	HGNC	HGNC:12559	protein_coding	YES	CCDS61876.1	ENSP00000379438	P07911		UPI000059D336	NM_001278614.1	tolerated(0.12)		9/12		PROSITE_profiles:PS51034,hmmpanther:PTHR24044:SF263,hmmpanther:PTHR24044,Pfam_domain:PF00100,SMART_domains:SM00241																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	62	20337293	20337293	G	T	1	0	0	0	0	1	0	0	0	17503	1217	42	2		2	UMOD	16	20337293	Missense_Mutation	SNP	G	C3N-00580_TP	1	20337293	70001052	813	20273	429	2									
ACSM2A	0	.	GRCh38	chr16	20465643	20465643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtcctctcgggagcctgtGgcctgcagcgtggggatcgt	4	9	16	12	4	1	0	0	0	1	0	4	2	2	2	3	4	3	1	3	4	0	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.304G>T	p.Gly102Cys	p.G102C	ENST00000573854	3/14	398	341	57	456	455	1	strelka-varscan-mutect	ACSM2A,missense_variant,p.Gly102Cys,ENST00000573854,NM_001308172.1,NM_001010845.2;ACSM2A,missense_variant,p.Gly102Cys,ENST00000396104,;ACSM2A,missense_variant,p.Gly102Cys,ENST00000575690,;ACSM2A,missense_variant,p.Gly102Cys,ENST00000219054,;ACSM2A,missense_variant,p.Gly23Cys,ENST00000417235,NM_001308169.1;ACSM2A,missense_variant,p.Gly102Cys,ENST00000571894,;ACSM2A,missense_variant,p.Gly102Cys,ENST00000576361,;ACSM2A,missense_variant,p.Gly23Cys,ENST00000574251,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000575558,;ACSM2A,missense_variant,p.Gly102Cys,ENST00000574692,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000570698,;	T	ENST00000573854	Transcript	missense_variant	418/2837	304/1734	102/577	G/C	Ggc/Tgc		1		1	ACSM2A	HGNC	HGNC:32017	protein_coding	YES	CCDS32401.1	ENSP00000459451	Q08AH3		UPI0000251E27	NM_001308172.1,NM_001010845.2	deleterious(0)		3/14		hmmpanther:PTHR24095:SF188,hmmpanther:PTHR24095,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	20465643	20465643	G	T	1	0	0	0	0	1	0	0	0	225	1348	47	2		2	ACSM2A	16	20465643	Missense_Mutation	SNP	G	C3N-00580_TP	128350	20465643	69872702	814	20274											
PLK1	0	.	GRCh38	chr16	23681040	23681040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcgaggtggatgtgtGgtccattgggtgtatcatgt	6	15	15	5	1	1	0	1	0	0	0	3	2	2	1	1	4	0	2	1	4	1	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.704G>T	p.Trp235Leu	p.W235L	ENST00000300093	3/10	214	195	19	477	476	1	strelka-varscan-mutect	PLK1,missense_variant,p.Trp235Leu,ENST00000300093,NM_005030.4;PLK1,5_prime_UTR_variant,,ENST00000567897,;PLK1,5_prime_UTR_variant,,ENST00000568568,;DCTN5,downstream_gene_variant,,ENST00000300087,NM_032486.3;PLK1,non_coding_transcript_exon_variant,,ENST00000564202,;PLK1,non_coding_transcript_exon_variant,,ENST00000562272,;PLK1,downstream_gene_variant,,ENST00000570220,;PLK1,upstream_gene_variant,,ENST00000562407,;	T	ENST00000300093	Transcript	missense_variant	815/2227	704/1812	235/603	W/L	tGg/tTg		1		1	PLK1	HGNC	HGNC:9077	protein_coding	YES	CCDS10616.1	ENSP00000300093	P53350		UPI0000131BF9	NM_005030.4	deleterious(0)		3/10		PROSITE_profiles:PS50011,hmmpanther:PTHR24345,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	23681040	23681040	G	T	1	0	0	0	0	1	0	0	0	12190	1357	47	2		2	PLK1	16	23681040	Missense_Mutation	SNP	G	C3N-00580_TP	3215397	23681040	66657305	815	20275											
ERN2	0	.	GRCh38	chr16	23713124	23713124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgtcccgagcagcagcgCcgcgaactggagctggagcc	8	3	15	15	5	0	0	0	0	0	0	1	4	1	2	3	2	7	3	3	2	1	0	rs571323575		C3N-00580_TP	C3N-00580_NB	C	C																c.208G>T	p.Ala70Ser	p.A70S	ENST00000634482	1/22	173	74	99	193	193	0	strelka-varscan-mutect	ERN2,missense_variant,p.Ala70Ser,ENST00000634482,NM_033266.3;ERN2,missense_variant,p.Ala22Ser,ENST00000256797,;ERN2,missense_variant,p.Ala22Ser,ENST00000457008,NM_001308220.1;CTD-2385L22.1,downstream_gene_variant,,ENST00000563611,;ERN2,missense_variant,p.Ala22Ser,ENST00000562562,;ERN2,missense_variant,p.Ala22Ser,ENST00000569903,;	A	ENST00000634482	Transcript	missense_variant	377/3616	208/2925	70/974	A/S	Gcg/Tcg	rs571323575	1		-1	ERN2	HGNC	HGNC:16942	protein_coding	YES	CCDS32407.1	ENSP00000489461		A0A0U1RRC7	UPI000041A8F8	NM_033266.3	tolerated_low_confidence(0.07)		1/22		Low_complexity_(Seg):seg,hmmpanther:PTHR13954,hmmpanther:PTHR13954:SF15																	MODERATE	1	SNV	1			1										PASS		rs571323575	.												A	3	1	62	23713124	23713124	C	A	1	0	0	0	0	1	0	0	0	5096	739	26	2		2	ERN2	16	23713124	Missense_Mutation	SNP	C	C3N-00580_TP	32084	23713124	66625221	816	20276											
PRKCB	0	.	GRCh38	chr16	24092841	24092841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accccaatggcctgtcagatCcctacgtaaaactgaaactg	13	8	7	13	1	1	2	1	1	0	1	2	2	2	2	4	1	3	1	4	1	5	2			C3N-00580_TP	C3N-00580_NB	C	C																c.580C>A	p.Pro194Thr	p.P194T	ENST00000303531	6/17	216	197	19	173	173	0	strelka-varscan-mutect	PRKCB,missense_variant,p.Pro194Thr,ENST00000303531,NM_002738.6;PRKCB,missense_variant,p.Pro194Thr,ENST00000321728,NM_212535.2;PRKCB,missense_variant,p.Pro9Thr,ENST00000498739,;PRKCB,non_coding_transcript_exon_variant,,ENST00000482000,;PRKCB,non_coding_transcript_exon_variant,,ENST00000486868,;	A	ENST00000303531	Transcript	missense_variant	732/7969	580/2022	194/673	P/T	Ccc/Acc	COSM3507901,COSM3507902,COSM3507903	1		1	PRKCB	HGNC	HGNC:9395	protein_coding	YES	CCDS10619.1	ENSP00000305355	P05771		UPI000002ACF9	NM_002738.6	deleterious(0.04)		6/17		Gene3D:2.60.40.150,Pfam_domain:PF00168,PIRSF_domain:PIRSF000550,Prints_domain:PR00360,PROSITE_profiles:PS50004,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF188,SMART_domains:SM00239,Superfamily_domains:SSF49562											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	62	24092841	24092841	C	A	1	0	0	0	0	1	0	0	0	12641	855	30	2		2	PRKCB	16	24092841	Missense_Mutation	SNP	C	C3N-00580_TP	379717	24092841	66245504	817	20277											
RBBP6	0	.	GRCh38	chr16	24571961	24571961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgacttaactagagaaaCtgatgaagctgcttttgaac	13	12	8	8	0	1	5	0	4	1	1	1	6	1	5	0	0	5	2	0	0	5	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.4895C>T	p.Thr1632Ile	p.T1632I	ENST00000319715	18/18	176	136	40	133	133	0	strelka-varscan-mutect	RBBP6,missense_variant,p.Thr1632Ile,ENST00000319715,NM_006910.4;RBBP6,missense_variant,p.Thr1598Ile,ENST00000348022,NM_018703.3;RBBP6,missense_variant,p.Thr792Ile,ENST00000381039,;RBBP6,downstream_gene_variant,,ENST00000564314,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;	T	ENST00000319715	Transcript	missense_variant	5327/6229	4895/5379	1632/1792	T/I	aCt/aTt		1		1	RBBP6	HGNC	HGNC:9889	protein_coding	YES	CCDS10621.1	ENSP00000317872	Q7Z6E9		UPI00001A96B8	NM_006910.4	deleterious_low_confidence(0)		18/18																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	24571961	24571961	C	T	1	0	0	0	0	1	0	0	0	13264	565	20	3		3	RBBP6	16	24571961	Missense_Mutation	SNP	C	C3N-00580_TP	479120	24571961	65766384	818	20278											
IL4R	0	.	GRCh38	chr16	27341170	27341170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaggctccggatccctctgGgaggtagatttgaggacaga	10	8	15	8	1	1	4	0	1	1	3	3	7	3	7	2	5	0	2	2	5	1	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.171G>T	p.Trp57Cys	p.W57C	ENST00000628578	2/2	118	69	49	86	86	0	strelka-varscan-mutect	IL4R,missense_variant,p.Trp57Cys,ENST00000628578,;IL4R,intron_variant,,ENST00000395762,NM_000418.3;IL4R,intron_variant,,ENST00000543915,NM_001257997.1,NM_001257406.1;IL4R,intron_variant,,ENST00000563002,;IL4R,intron_variant,,ENST00000566117,;IL4R,intron_variant,,ENST00000562142,;IL4R,upstream_gene_variant,,ENST00000170630,NM_001257407.1;IL4R,upstream_gene_variant,,ENST00000562968,;IL4R,downstream_gene_variant,,ENST00000561742,;IL4R,missense_variant,p.Trp57Cys,ENST00000568746,;IL4R,missense_variant,p.Trp57Cys,ENST00000563926,;IL4R,intron_variant,,ENST00000563787,;IL4R,intron_variant,,ENST00000566318,;IL4R,intron_variant,,ENST00000561946,;IL4R,upstream_gene_variant,,ENST00000565696,;	T	ENST00000628578	Transcript	missense_variant	171/201	171/201	57/66	W/C	tgG/tgT		1		1	IL4R	HGNC	HGNC:6015	protein_coding			ENSP00000486645		Q5FC08	UPI00004CA0C4		deleterious_low_confidence(0)		2/2																			MODERATE		SNV	1			1										PASS		.	.												T	3	4	62	27341170	27341170	G	T	1	0	0	0	0	1	0	0	0	7602	1241	43	2		2	IL4R	16	27341170	Missense_Mutation	SNP	G	C3N-00580_TP	2769209	27341170	62997175	819	20279											
GTF3C1	0	.	GRCh38	chr16	27485997	27485997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgggctggttggtacCttggtgttgaggacattgct	4	14	17	6	0	0	1	0	1	0	0	0	2	0	2	1	6	2	6	1	6	1	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.3858G>T	p.Lys1286Asn	p.K1286N	ENST00000356183	24/37	89	58	31	96	96	0	strelka-varscan-mutect	GTF3C1,missense_variant,p.Lys1286Asn,ENST00000356183,NM_001520.3;GTF3C1,missense_variant,p.Lys1286Asn,ENST00000561623,NM_001286242.1;GTF3C1,missense_variant,p.Lys55Asn,ENST00000568569,;GTF3C1,intron_variant,,ENST00000569653,;GTF3C1,splice_region_variant,,ENST00000570129,;GTF3C1,splice_region_variant,,ENST00000564664,;GTF3C1,upstream_gene_variant,,ENST00000566779,;	A	ENST00000356183	Transcript	missense_variant,splice_region_variant	3874/7018	3858/6330	1286/2109	K/N	aaG/aaT		1		-1	GTF3C1	HGNC	HGNC:4664	protein_coding	YES	CCDS32414.1	ENSP00000348510	Q12789		UPI00001FF123	NM_001520.3	deleterious(0)		24/37		hmmpanther:PTHR15180,hmmpanther:PTHR15180:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	27485997	27485997	C	A	1	0	0	0	0	1	0	0	0	6753	695	24	2		2	GTF3C1	16	27485997	Missense_Mutation	SNP	C	C3N-00580_TP	144827	27485997	62852348	820	20280											
KIAA0556	0	.	GRCh38	chr16	27750121	27750121	+	Frame_Shift_Del	DEL	G	G	-																															ctggctggcccccttcacgcGgggcagatcccactccatca																								rs765345877		C3N-00580_TP	C3N-00580_NB	G	G																c.3164delG	p.Gly1055AlafsTer18	p.G1055Afs*18	ENST00000261588	16/28	171	84	87	201	201	0	sindel-varindel-pindel	KIAA0556,frameshift_variant,p.Gly1055AlafsTer18,ENST00000261588,NM_015202.2;KIAA0556,non_coding_transcript_exon_variant,,ENST00000573850,;	-	ENST00000261588	Transcript	frameshift_variant	3180/6616	3161/4857	1054/1618	R/X	cGg/cg	rs765345877	1		1	KIAA0556	HGNC	HGNC:29068	protein_coding	YES	CCDS32415.1	ENSP00000261588	O60303		UPI000045693C	NM_015202.2			16/28		hmmpanther:PTHR21534:SF0,hmmpanther:PTHR21534,Pfam_domain:PF14652																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	62	27750121	27750121	G	-	1	0	1	0	1	0	0	0	0	8088	1116	39	0		0	KIAA0556	16	27750121	Frame_Shift_Del	DEL	G	C3N-00580_TP	264124	27750121	62588224	821	20281											
NPIPB6	0	.	GRCh38	chr16	28362784	28362784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggctctggtcatgcgaCaggaactgtggggtcaggac	8	8	16	9	1	3	0	2	0	1	0	3	3	3	2	0	6	3	2	0	6	1	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.39G>A	p.=	p.L13L	ENST00000532254	1/7	562	457	105	668	668	0	strelka-varscan-mutect	NPIPB6,synonymous_variant,p.=,ENST00000532254,NM_001282524.1;RP11-435I10.5,upstream_gene_variant,,ENST00000603787,;	T	ENST00000532254	Transcript	synonymous_variant	725/2016	39/1278	13/425	L	ctG/ctA		1		-1	NPIPB6	HGNC	HGNC:37454	protein_coding	YES	CCDS61892.1	ENSP00000431871	E9PJ23		UPI000047D9DC	NM_001282524.1			1/7		hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF4																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	28362784	28362784	C	T	1	0	0	0	0	0	0	0	1	10640	465	17	3		3	NPIPB6	16	28362784	Silent	SNP	C	C3N-00580_TP	612663	28362784	61975561	822	20282											
TAOK2	0	.	GRCh38	chr16	29981920	29981920	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatccctcaagacagaccaAcctcagaggttctcctgaag	14	7	7	13	0	3	4	2	1	1	3	5	4	4	4	4	1	1	1	4	1	4	1	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.811A>T	p.Thr271Ser	p.T271S	ENST00000308893	10/16	326	281	45	347	347	0	strelka-varscan-mutect	TAOK2,missense_variant,p.Thr271Ser,ENST00000308893,NM_016151.3;TAOK2,missense_variant,p.Thr98Ser,ENST00000416441,;TAOK2,missense_variant,p.Thr271Ser,ENST00000279394,NM_004783.3;TAOK2,missense_variant,p.Thr271Ser,ENST00000543033,NM_001252043.1;TAOK2,upstream_gene_variant,,ENST00000566552,;	T	ENST00000308893	Transcript	missense_variant	1854/5169	811/3708	271/1235	T/S	Acc/Tcc		1		1	TAOK2	HGNC	HGNC:16835	protein_coding	YES	CCDS10663.1	ENSP00000310094	Q9UL54		UPI000013EDDA	NM_016151.3	tolerated(0.3)		10/16		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF188,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs970485759	.												T	3	4	62	29981920	29981920	A	T	1	0	0	0	0	1	0	0	0	15947	43	2	4		4	TAOK2	16	29981920	Missense_Mutation	SNP	A	C3N-00580_TP	1619136	29981920	60356425	823	20283											
ITGAL	0	.	GRCh38	chr16	30483852	30483852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtgttccgggaggagctgGgggcccggccagatgccacc	6	5	18	12	2	0	1	0	0	0	1	1	3	1	3	5	6	2	2	5	6	0	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.748G>T	p.Gly250Trp	p.G250W	ENST00000356798	8/31	172	148	24	166	166	0	strelka-varscan-mutect	ITGAL,missense_variant,p.Gly250Trp,ENST00000356798,NM_002209.2;ITGAL,missense_variant,p.Gly167Trp,ENST00000358164,NM_001114380.1;ITGAL,missense_variant,p.Gly167Trp,ENST00000564118,;ITGAL,intron_variant,,ENST00000433423,;ITGAL,downstream_gene_variant,,ENST00000569725,;RNU7-61P,upstream_gene_variant,,ENST00000515897,;RP11-297C4.2,intron_variant,,ENST00000569459,;RP11-297C4.3,upstream_gene_variant,,ENST00000562525,;ITGAL,non_coding_transcript_exon_variant,,ENST00000565348,;ITGAL,3_prime_UTR_variant,,ENST00000562857,;ITGAL,intron_variant,,ENST00000568926,;ITGAL,downstream_gene_variant,,ENST00000565864,;ITGAL,upstream_gene_variant,,ENST00000566149,;	T	ENST00000356798	Transcript	missense_variant	928/5213	748/3513	250/1170	G/W	Ggg/Tgg		1		1	ITGAL	HGNC	HGNC:6148	protein_coding	YES	CCDS32433.1	ENSP00000349252	P20701		UPI000013C4FF	NM_002209.2	deleterious(0)		8/31		Pfam_domain:PF00092,PROSITE_profiles:PS50234,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	30483852	30483852	G	T	1	0	0	0	0	1	0	0	0	7793	1232	43	2		2	ITGAL	16	30483852	Missense_Mutation	SNP	G	C3N-00580_TP	501932	30483852	59854493	824	20284											
ZNF689	0	.	GRCh38	chr16	30605373	30605373	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtttgctgggcctccggcCtcgcttcccctttcggggtg	0	12	15	14	3	0	0	0	0	0	0	4	0	2	0	5	5	1	3	5	5	0	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.394G>T	p.Gly132Cys	p.G132C	ENST00000287461	3/3	213	181	32	295	295	0	strelka-varscan-mutect	ZNF689,missense_variant,p.Gly132Cys,ENST00000287461,NM_138447.2;RP11-146F11.5,intron_variant,,ENST00000563540,;ZNF689,non_coding_transcript_exon_variant,,ENST00000566673,;ZNF689,non_coding_transcript_exon_variant,,ENST00000563304,;ZNF689,non_coding_transcript_exon_variant,,ENST00000565440,;ZNF689,non_coding_transcript_exon_variant,,ENST00000564262,;ZNF689,non_coding_transcript_exon_variant,,ENST00000565710,;	A	ENST00000287461	Transcript	missense_variant	732/3547	394/1503	132/500	G/C	Ggc/Tgc		1		-1	ZNF689	HGNC	HGNC:25173	protein_coding	YES	CCDS10686.1	ENSP00000287461	Q96CS4		UPI000006CDAD	NM_138447.2	tolerated(0.12)		3/3		hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF23,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1259511740	.												A	3	1	62	30605373	30605373	C	A	1	0	0	0	0	1	0	0	0	18667	681	24	2		2	ZNF689	16	30605373	Missense_Mutation	SNP	C	C3N-00580_TP	121521	30605373	59732972	825	20285											
ITGAX	0	.	GRCh38	chr16	31359773	31359773	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcctcccgcaactttgcCacgatgatgaacttcgtgag	9	11	8	13	3	1	3	0	3	1	0	4	4	2	3	3	0	3	1	3	0	2	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.504C>A	p.=	p.A168A	ENST00000562522	6/31	331	232	99	301	301	0	strelka-varscan-mutect	ITGAX,synonymous_variant,p.=,ENST00000268296,NM_000887.4;ITGAX,synonymous_variant,p.=,ENST00000562522,NM_001286375.1;ITGAX,downstream_gene_variant,,ENST00000562918,;ITGAX,upstream_gene_variant,,ENST00000571644,;ITGAX,downstream_gene_variant,,ENST00000567409,;ITGAX,downstream_gene_variant,,ENST00000564308,;RP11-120K18.3,downstream_gene_variant,,ENST00000561830,;	A	ENST00000562522	Transcript	synonymous_variant	537/3990	504/3510	168/1169	A	gcC/gcA		1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1			6/31		Pfam_domain:PF00092,PROSITE_profiles:PS50234,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	31359773	31359773	C	A	1	0	0	0	0	0	0	0	1	7796	581	21	2		2	ITGAX	16	31359773	Silent	SNP	C	C3N-00580_TP	754400	31359773	58978572	826	20286											
ITGAD	0	.	GRCh38	chr16	31407776	31407776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgcaggtgggacacgCtttccagggacccactgcca	7	8	12	14	1	1	0	0	0	1	0	2	2	2	2	3	3	3	3	3	3	0	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.869C>A	p.Ala290Asp	p.A290D	ENST00000389202	9/30	262	168	94	217	217	0	strelka-varscan-mutect	ITGAD,missense_variant,p.Ala290Asp,ENST00000389202,NM_001318185.1,NM_005353.2;RP11-120K18.2,downstream_gene_variant,,ENST00000567545,;ITGAD,non_coding_transcript_exon_variant,,ENST00000444228,;	A	ENST00000389202	Transcript	missense_variant	918/3912	869/3486	290/1161	A/D	gCt/gAt		1		1	ITGAD	HGNC	HGNC:6146	protein_coding	YES	CCDS32438.1	ENSP00000373854	Q13349		UPI000004B27A	NM_001318185.1,NM_005353.2	deleterious(0.01)		9/30		Pfam_domain:PF00092,PROSITE_profiles:PS50234,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	31407776	31407776	C	A	1	0	0	0	0	1	0	0	0	7791	797	28	2		2	ITGAD	16	31407776	Missense_Mutation	SNP	C	C3N-00580_TP	48003	31407776	58930569	827	20287											
ZNF267	0	.	GRCh38	chr16	31914670	31914670	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatatgatcaatttgatGaatcctctgttgaaagtttg	13	17	7	4	0	2	4	1	4	1	0	3	4	3	4	1	0	0	2	1	0	6	5	rs751991210		C3N-00580_TP	C3N-00580_NB	G	G																c.421G>T	p.Glu141Ter	p.E141*	ENST00000300870	4/4	170	147	23	129	129	0	strelka-varscan-mutect	ZNF267,stop_gained,p.Glu141Ter,ENST00000300870,NM_003414.5;ZNF267,3_prime_UTR_variant,,ENST00000394846,;ZNF267,downstream_gene_variant,,ENST00000562971,;ZNF267,non_coding_transcript_exon_variant,,ENST00000575471,;ZNF267,downstream_gene_variant,,ENST00000566541,;ZNF267,downstream_gene_variant,,ENST00000561814,;	T	ENST00000300870	Transcript	stop_gained	630/3317	421/2232	141/743	E/*	Gaa/Taa	rs751991210	1		1	ZNF267	HGNC	HGNC:13060	protein_coding	YES	CCDS32440.1	ENSP00000300870	Q14586		UPI000045696F	NM_003414.5			4/4																			HIGH	1	SNV	1			1										PASS		rs751991210	.												T	4	4	62	31914670	31914670	G	T	1	0	0	0	0	0	1	0	0	18382	1291	45	2		2	ZNF267	16	31914670	Nonsense_Mutation	SNP	G	C3N-00580_TP	506894	31914670	58423675	828	20288											
CBLN1	0	.	GRCh38	chr16	49279449	49279449	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggtcgagtacttccaGccccccatcaagtttccccg	9	8	9	15	2	1	1	1	0	0	1	4	3	3	1	6	1	2	2	6	1	3	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.537C>A	p.=	p.G179G	ENST00000219197	3/3	551	331	220	516	516	0	strelka-varscan-mutect	CBLN1,synonymous_variant,p.=,ENST00000219197,NM_004352.3;CBLN1,synonymous_variant,p.=,ENST00000536749,;CBLN1,3_prime_UTR_variant,,ENST00000564786,;	T	ENST00000219197	Transcript	synonymous_variant	903/2435	537/582	179/193	G	ggC/ggA		1		-1	CBLN1	HGNC	HGNC:1543	protein_coding	YES	CCDS10736.1	ENSP00000219197	P23435		UPI0000127506	NM_004352.3			3/3		PROSITE_profiles:PS50871,hmmpanther:PTHR22923:SF5,hmmpanther:PTHR22923,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	49279449	49279449	G	T	1	0	0	0	0	0	0	0	1	2405	958	34	2		2	CBLN1	16	49279449	Silent	SNP	G	C3N-00580_TP	17364779	49279449	41058896	829	20289											
ZNF423	0	.	GRCh38	chr16	49638847	49638847	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagggagacgaggccaccCaggagagttgtgggtcgtca	9	6	18	8	2	1	2	1	0	0	2	2	6	1	3	2	5	0	1	2	5	0	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.305G>A	p.Trp102Ter	p.W102*	ENST00000561648	5/9	107	80	27	101	101	0	strelka-varscan-mutect	ZNF423,stop_gained,p.Trp102Ter,ENST00000561648,;ZNF423,stop_gained,p.Trp42Ter,ENST00000563137,;ZNF423,stop_gained,p.Trp102Ter,ENST00000262383,NM_015069.3;ZNF423,stop_gained,p.Trp42Ter,ENST00000562871,;ZNF423,stop_gained,p.Trp42Ter,ENST00000562520,NM_001271620.1;ZNF423,5_prime_UTR_variant,,ENST00000535559,;ZNF423,5_prime_UTR_variant,,ENST00000567169,;	T	ENST00000561648	Transcript	stop_gained	606/7907	305/3855	102/1284	W/*	tGg/tAg		1		-1	ZNF423	HGNC	HGNC:16762	protein_coding	YES	CCDS32445.1	ENSP00000455426	Q2M1K9		UPI0000353ABC				5/9		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF210																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	62	49638847	49638847	C	T	1	0	0	0	0	0	1	0	0	18470	595	21	3		3	ZNF423	16	49638847	Nonsense_Mutation	SNP	C	C3N-00580_TP	359398	49638847	40699498	830	20290											
SALL1	0	.	GRCh38	chr16	51139827	51139827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggactcagagtagctgtcggGgactggggtgttggggatct	6	10	19	6	1	2	1	1	0	1	1	3	4	2	4	0	7	1	3	0	7	1	2	rs267604571		C3N-00580_TP	C3N-00580_NB	G	G																c.2395C>T	p.Pro799Ser	p.P799S	ENST00000251020	2/3	579	362	217	427	424	3	strelka-varscan-mutect	SALL1,missense_variant,p.Pro702Ser,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Pro799Ser,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Pro702Ser,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	A	ENST00000251020	Transcript	missense_variant	2429/5146	2395/3975	799/1324	P/S	Ccc/Tcc	rs267604571,COSM3510168	1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	tolerated(0.06)		2/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs267604571	.												A	3	1	62	51139827	51139827	G	A	1	0	0	0	0	1	0	0	0	14069	1232	43	3		3	SALL1	16	51139827	Missense_Mutation	SNP	G	C3N-00580_TP	1500980	51139827	39198518	831	20291											
TOX3	0	.	GRCh38	chr16	52439603	52439603	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcatctgttgttgttgCtgctgctgctgctgctgcaa	3	17	12	9	0	1	0	0	0	1	0	1	0	1	0	0	0	8	12	0	0	1	4	rs374335680		C3N-00580_TP	C3N-00580_NB	C	C																c.1353G>A	p.=	p.Q451Q	ENST00000219746	7/7	304	188	116	256	256	0	strelka-varscan-mutect	TOX3,synonymous_variant,p.=,ENST00000219746,NM_001080430.2;TOX3,synonymous_variant,p.=,ENST00000407228,NM_001146188.1;RP11-132F7.2,upstream_gene_variant,,ENST00000624321,;TOX3,non_coding_transcript_exon_variant,,ENST00000566696,;	T	ENST00000219746	Transcript	synonymous_variant	1638/3233	1353/1731	451/576	Q	caG/caA	rs374335680	1		-1	TOX3	HGNC	HGNC:11972	protein_coding	YES	CCDS54009.1	ENSP00000219746	O15405		UPI00001972E7	NM_001080430.2			7/7		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF220,Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		rs374335680	.												T	2	4	62	52439603	52439603	C	T	1	0	0	0	0	0	0	0	1	16857	796	28	3		3	TOX3	16	52439603	Silent	SNP	C	C3N-00580_TP	1299776	52439603	37898742	832	20292											
MT1G	0	.	GRCh38	chr16	56667261	56667261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggacagccttgggttccCtcccaaccttagccacagcc	8	7	9	17	0	0	0	0	0	0	0	2	1	2	1	6	2	4	1	6	2	2	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.145G>A	p.Gly49Arg	p.G49R	ENST00000568675	2/2	490	306	184	348	348	0	strelka-varscan-mutect	MT1G,missense_variant,p.Gly49Arg,ENST00000568675,;MT1G,intron_variant,,ENST00000444837,NM_005950.2;MT1G,intron_variant,,ENST00000379811,NM_001301267.1;MT1G,intron_variant,,ENST00000569500,;MT1H,upstream_gene_variant,,ENST00000569155,;MT1H,upstream_gene_variant,,ENST00000332374,NM_005951.2;	T	ENST00000568675	Transcript	missense_variant	173/628	145/207	49/68	G/R	Ggg/Agg		1		-1	MT1G	HGNC	HGNC:7399	protein_coding			ENSP00000456835		H3BSS0	UPI00024670A3		tolerated_low_confidence(0.76)		2/2		Low_complexity_(Seg):seg																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	62	56667261	56667261	C	T	1	0	0	0	0	1	0	0	0	9885	681	24	3		3	MT1G	16	56667261	Missense_Mutation	SNP	C	C3N-00580_TP	4227658	56667261	33671084	833	20293											
CX3CL1	0	.	GRCh38	chr16	57382619	57382619	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggccagagaactctctgGagcgggaggagatgggtccc	9	5	16	11	1	1	2	0	0	1	2	3	6	2	4	3	5	2	0	3	5	1	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.781G>T	p.Glu261Ter	p.E261*	ENST00000006053	3/3	226	164	62	201	201	0	strelka-varscan-mutect	CX3CL1,stop_gained,p.Glu223Ter,ENST00000565912,;CX3CL1,stop_gained,p.Glu261Ter,ENST00000006053,NM_001304392.1,NM_002996.4;CX3CL1,stop_gained,p.Glu267Ter,ENST00000563383,;CX3CL1,downstream_gene_variant,,ENST00000564948,;	T	ENST00000006053	Transcript	stop_gained	892/3321	781/1194	261/397	E/*	Gag/Tag		1		1	CX3CL1	HGNC	HGNC:10647	protein_coding	YES	CCDS10779.1	ENSP00000006053	P78423	A0N0N7	UPI0000040685	NM_001304392.1,NM_002996.4			3/3		hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF92																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	62	57382619	57382619	G	T	1	0	0	0	0	0	1	0	0	3884	1175	41	2		2	CX3CL1	16	57382619	Nonsense_Mutation	SNP	G	C3N-00580_TP	715358	57382619	32955726	834	20294											
CNOT1	0	.	GRCh38	chr16	58539802	58539802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagcagctatggcatccCgagagtttcgagataaaact	14	8	10	9	2	0	3	0	0	0	3	2	5	1	3	1	1	3	4	1	1	4	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.4958G>T	p.Arg1653Leu	p.R1653L	ENST00000317147	35/49	194	147	47	161	161	0	strelka-varscan-mutect	CNOT1,missense_variant,p.Arg1653Leu,ENST00000317147,NM_016284.4;CNOT1,missense_variant,p.Arg1648Leu,ENST00000569240,NM_001265612.1;CNOT1,missense_variant,p.Arg26Leu,ENST00000568917,;CNOT1,downstream_gene_variant,,ENST00000441024,NM_206999.2;CNOT1,downstream_gene_variant,,ENST00000567133,;CNOT1,missense_variant,p.Arg1648Leu,ENST00000567188,;CNOT1,non_coding_transcript_exon_variant,,ENST00000563283,;CNOT1,downstream_gene_variant,,ENST00000566240,;	A	ENST00000317147	Transcript	missense_variant	5291/8471	4958/7131	1653/2376	R/L	cGg/cTg		1		-1	CNOT1	HGNC	HGNC:7877	protein_coding	YES	CCDS10799.1	ENSP00000320949	A5YKK6		UPI00001FF2F6	NM_016284.4	deleterious(0.05)		35/49		Low_complexity_(Seg):seg,hmmpanther:PTHR13162																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	58539802	58539802	C	A	1	0	0	0	0	1	0	0	0	3396	652	23	1		1	CNOT1	16	58539802	Missense_Mutation	SNP	C	C3N-00580_TP	1157183	58539802	31798543	835	20295											
CDH5	0	.	GRCh38	chr16	66388373	66388373	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagacgaccccactgtGggagaccacgcctctgtcat	9	7	11	14	2	2	2	1	0	1	2	2	5	2	2	4	1	1	1	4	1	0	0	rs755041783		C3N-00580_TP	C3N-00580_NB	G	G																c.549G>T	p.=	p.V183V	ENST00000341529	4/12	276	222	54	323	322	1	strelka-varscan-mutect	CDH5,synonymous_variant,p.=,ENST00000341529,NM_001795.3;CDH5,synonymous_variant,p.=,ENST00000614547,;CDH5,synonymous_variant,p.=,ENST00000563425,;CDH5,downstream_gene_variant,,ENST00000562048,;CDH5,downstream_gene_variant,,ENST00000568155,;CDH5,intron_variant,,ENST00000565334,;	T	ENST00000341529	Transcript	synonymous_variant	697/4120	549/2355	183/784	V	gtG/gtT	rs755041783	1		1	CDH5	HGNC	HGNC:1764	protein_coding	YES	CCDS10804.1	ENSP00000344115	P33151		UPI000016B272	NM_001795.3			4/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF89,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs755041783	.												T	2	4	62	66388373	66388373	G	T	1	0	0	0	0	0	0	0	1	2816	1335	47	2		2	CDH5	16	66388373	Silent	SNP	G	C3N-00580_TP	7848571	66388373	23949972	836	20296											
HYDIN	0	.	GRCh38	chr16	71129787	71129787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaaaaaactcatcagtCtcatccttctcctctttgat	10	16	2	13	0	7	1	4	1	4	0	10	1	8	1	2	0	1	0	2	0	3	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1080G>T	p.Glu360Asp	p.E360D	ENST00000393567	9/86	176	148	28	127	127	0	varscan-mutect	HYDIN,missense_variant,p.Glu360Asp,ENST00000393567,NM_001270974.1;HYDIN,missense_variant,p.Glu360Asp,ENST00000321489,NM_017558.4;HYDIN,missense_variant,p.Glu387Asp,ENST00000538248,NM_001198542.1;HYDIN,missense_variant,p.Glu377Asp,ENST00000541601,NM_001198543.1;HYDIN,missense_variant,p.Glu377Asp,ENST00000288168,;HYDIN,downstream_gene_variant,,ENST00000538382,;HYDIN,missense_variant,p.Glu148Asp,ENST00000545230,;HYDIN,3_prime_UTR_variant,,ENST00000539447,;HYDIN,upstream_gene_variant,,ENST00000393552,;HYDIN,downstream_gene_variant,,ENST00000536785,;	A	ENST00000393567	Transcript	missense_variant	1231/15719	1080/15366	360/5121	E/D	gaG/gaT		1		-1	HYDIN	HGNC	HGNC:19368	protein_coding	YES	CCDS59269.1	ENSP00000377197	Q4G0P3		UPI0001FEF4F9	NM_001270974.1	tolerated(0.06)		9/86		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF16,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	71129787	71129787	C	A	1	0	0	0	0	1	0	0	0	7363	912	32	2		2	HYDIN	16	71129787	Missense_Mutation	SNP	C	C3N-00580_TP	4741414	71129787	19208558	837	20297											
CALB2	0	.	GRCh38	chr16	71385587	71385587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatccccaggatagaagcgGctacattgacgagcatgagc	12	6	11	12	2	0	3	0	2	0	1	1	5	1	4	3	2	4	2	3	2	3	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.638G>T	p.Gly213Val	p.G213V	ENST00000302628	10/11	225	136	89	212	211	1	strelka-varscan-mutect	CALB2,missense_variant,p.Gly213Val,ENST00000302628,NM_001740.4;CALB2,missense_variant,p.Ala182Ser,ENST00000349553,NM_007088.3;CALB2,missense_variant,p.Gly142Val,ENST00000490520,;CALB2,intron_variant,,ENST00000562305,;CALB2,non_coding_transcript_exon_variant,,ENST00000467817,;	T	ENST00000302628	Transcript	missense_variant	715/1466	638/816	213/271	G/V	gGc/gTc		1		1	CALB2	HGNC	HGNC:1435	protein_coding	YES	CCDS10899.1	ENSP00000307508	P22676	A0A140VK08	UPI000013E7FC	NM_001740.4	deleterious(0)		10/11		Gene3D:1.10.238.10,Pfam_domain:PF13405,PROSITE_patterns:PS00018,PROSITE_profiles:PS50222,hmmpanther:PTHR19972,hmmpanther:PTHR19972:SF4,SMART_domains:SM00054,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	71385587	71385587	G	T	1	0	0	0	0	1	0	0	0	2264	1203	42	2		2	CALB2	16	71385587	Missense_Mutation	SNP	G	C3N-00580_TP	255800	71385587	18952758	838	20298											
ZNF23	0	.	GRCh38	chr16	71450606	71450606	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacgtgcctgtagttccagCtactcgggaggatgaggcag	8	9	15	9	2	0	1	0	1	0	0	2	3	1	3	2	3	4	5	2	3	3	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.252G>T	p.Ter84TyrextTer602	p.*84Yext*602	ENST00000497160	6/7	72	38	34	65	65	0	strelka-varscan-mutect	ZNF23,stop_lost,p.Ter84TyrextTer602,ENST00000497160,;ZNF23,stop_lost,p.Ter84TyrextTer602,ENST00000358700,;ZNF23,intron_variant,,ENST00000393539,NM_145911.2;ZNF23,intron_variant,,ENST00000357254,NM_001304492.1;ZNF23,intron_variant,,ENST00000564528,NM_001304493.1,NM_001304494.1;ZNF23,intron_variant,,ENST00000428724,;ZNF23,intron_variant,,ENST00000565718,;ZNF23,downstream_gene_variant,,ENST00000567340,;ZNF23,intron_variant,,ENST00000539742,;ZNF23,non_coding_transcript_exon_variant,,ENST00000576258,;AC010547.9,intron_variant,,ENST00000561908,;	A	ENST00000497160	Transcript	stop_lost	497/2799	252/252	84/83	*/Y	taG/taT		1		-1	ZNF23	HGNC	HGNC:13023	protein_coding			ENSP00000456683		H0Y310	UPI0002467214				6/7																			HIGH		SNV	5			1										PASS		.	.												A	4	1	62	71450606	71450606	C	A	1	0	0	0	0	0	0	0	0	18360	808	28	2		2	ZNF23	16	71450606	Nonstop_Mutation	SNP	C	C3N-00580_TP	65019	71450606	18887739	839	20299											
ZNF821	0	.	GRCh38	chr16	71860062	71860062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttcaaaggccatcttgcCcagaagctggctgtccaact	9	10	8	14	0	3	1	1	0	2	1	4	1	4	1	3	2	3	2	3	2	3	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1195G>A	p.Gly399Ser	p.G399S	ENST00000425432	8/8	122	74	48	87	87	0	strelka-varscan-mutect	ZNF821,missense_variant,p.Gly399Ser,ENST00000425432,NM_001201552.1;ZNF821,missense_variant,p.Gly357Ser,ENST00000313565,NM_001201554.1;ZNF821,missense_variant,p.Gly399Ser,ENST00000565601,NM_001201553.1;ZNF821,missense_variant,p.Gly357Ser,ENST00000446827,NM_017530.2;ZNF821,missense_variant,p.Gly399Ser,ENST00000568666,;ZNF821,3_prime_UTR_variant,,ENST00000611294,NM_001201556.1;ZNF821,3_prime_UTR_variant,,ENST00000564134,;IST1,intron_variant,,ENST00000568581,;ATXN1L,downstream_gene_variant,,ENST00000427980,NM_001137675.3;ZNF821,downstream_gene_variant,,ENST00000562797,;ZNF821,downstream_gene_variant,,ENST00000565516,;ZNF821,downstream_gene_variant,,ENST00000568322,;ZNF821,downstream_gene_variant,,ENST00000565843,;RP11-417N10.4,non_coding_transcript_exon_variant,,ENST00000623505,;ATXN1L,intron_variant,,ENST00000569119,;ZNF821,downstream_gene_variant,,ENST00000564943,;ZNF821,3_prime_UTR_variant,,ENST00000568961,NM_001318238.1;ZNF821,3_prime_UTR_variant,,ENST00000566987,NM_001318239.1;ZNF821,3_prime_UTR_variant,,ENST00000562808,;ZNF821,downstream_gene_variant,,ENST00000563878,;ZNF821,downstream_gene_variant,,ENST00000562985,;ZNF821,downstream_gene_variant,,ENST00000563827,;ZNF821,downstream_gene_variant,,ENST00000569186,;	T	ENST00000425432	Transcript	missense_variant	1618/2000	1195/1239	399/412	G/S	Ggc/Agc		1		-1	ZNF821	HGNC	HGNC:28043	protein_coding	YES	CCDS56006.1	ENSP00000398089	O75541		UPI0000EE78C4	NM_001201552.1	tolerated_low_confidence(0.21)		8/8		hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF1																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	62	71860062	71860062	C	T	1	0	0	0	0	1	0	0	0	18764	623	22	3		3	ZNF821	16	71860062	Missense_Mutation	SNP	C	C3N-00580_TP	409456	71860062	18478283	840	20300											
PKD1L3	0	.	GRCh38	chr16	71970065	71970065	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagaaggtcaggtggttaCagagacactgtgtcctcaga	13	8	12	8	0	2	3	2	0	0	3	3	4	3	3	1	3	1	1	1	3	3	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1994G>T	p.Cys665Phe	p.C665F	ENST00000620267	13/30	323	205	118	308	308	0	strelka-varscan-mutect	PKD1L3,missense_variant,p.Cys665Phe,ENST00000620267,NM_181536.1;	A	ENST00000620267	Transcript	missense_variant	1994/5199	1994/5199	665/1732	C/F	tGt/tTt		1		-1	PKD1L3	HGNC	HGNC:21716	protein_coding	YES	CCDS73912.1	ENSP00000480090	Q7Z443		UPI00001A36E5	NM_181536.1	deleterious(0)		13/30		PROSITE_profiles:PS50221,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF136,Pfam_domain:PF01825,SMART_domains:SM00303																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	71970065	71970065	C	A	1	0	0	0	0	1	0	0	0	12061	478	17	2		2	PKD1L3	16	71970065	Missense_Mutation	SNP	C	C3N-00580_TP	110003	71970065	18368280	841	20301											
KLHDC4	0	.	GRCh38	chr16	87701653	87701653	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctacctcactgccactcgtCcgcctcgtccactcctggca	5	9	6	21	3	1	0	1	0	0	0	6	0	4	0	7	1	2	1	7	1	1	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.862G>C	p.Asp288His	p.D288H	ENST00000446344	1/1	62	38	24	92	92	0	strelka-varscan-mutect	KLHDC4,missense_variant,p.Asp288His,ENST00000446344,;JPH3,downstream_gene_variant,,ENST00000284262,NM_020655.3;KLHDC4,non_coding_transcript_exon_variant,,ENST00000568346,;JPH3,downstream_gene_variant,,ENST00000563609,;JPH3,downstream_gene_variant,,ENST00000537256,;KLHDC4,downstream_gene_variant,,ENST00000568499,;KLHDC4,upstream_gene_variant,,ENST00000568444,;KLHDC4,3_prime_UTR_variant,,ENST00000567298,;	G	ENST00000446344	Transcript	missense_variant	939/4444	862/876	288/291	D/H	Gac/Cac		1		-1	KLHDC4	HGNC	HGNC:25272	protein_coding			ENSP00000392909		Q86VH3	UPI000018F332				1/1																			MODERATE		SNV				1										PASS		rs1366235870	.												G	3	3	62	87701653	87701653	C	G	1	0	0	0	0	1	0	0	0	8223	855	30	4		4	KLHDC4	16	87701653	Missense_Mutation	SNP	C	C3N-00580_TP	15731588	87701653	2636692	842	20302											
ZNF469	0	.	GRCh38	chr16	88436683	88436683	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccccgtgggtctcccCggccccagcttcttagactt	6	9	10	16	2	2	2	0	0	2	2	3	3	2	2	6	2	1	1	6	2	2	3	rs267604675		C3N-00580_TP	C3N-00580_NB	C	C																c.9129C>G	p.=	p.P3043P	ENST00000437464	2/2	125	75	50	190	190	0	strelka-varscan-mutect	ZNF469,synonymous_variant,p.=,ENST00000565624,;ZNF469,synonymous_variant,p.=,ENST00000437464,NM_001127464.2;	G	ENST00000437464	Transcript	synonymous_variant	9129/13203	9129/11778	3043/3925	P	ccC/ccG	rs267604675	1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2			2/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	LOW	1	SNV	5			1										PASS		rs267604675	.												G	2	3	62	88436683	88436683	C	G	1	0	0	0	0	0	0	0	1	18500	639	23	4		4	ZNF469	16	88436683	Silent	SNP	C	C3N-00580_TP	735030	88436683	1901662	843	20303											
SPIRE2	0	.	GRCh38	chr16	89856162	89856162	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaagcaaaggtccctgcAtgagaagatcctggaggaga	15	5	12	9	0	0	3	0	1	0	3	2	6	2	4	3	3	2	2	3	3	3	0	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1028A>T	p.His343Leu	p.H343L	ENST00000378247	7/15	157	103	54	245	245	0	strelka-varscan-mutect	SPIRE2,missense_variant,p.His343Leu,ENST00000378247,NM_032451.1;SPIRE2,missense_variant,p.His343Leu,ENST00000393062,;SPIRE2,3_prime_UTR_variant,,ENST00000566337,;SPIRE2,non_coding_transcript_exon_variant,,ENST00000569108,;SPIRE2,downstream_gene_variant,,ENST00000561883,;	T	ENST00000378247	Transcript	missense_variant	1071/3235	1028/2145	343/714	H/L	cAt/cTt		1		1	SPIRE2	HGNC	HGNC:30623	protein_coding	YES	CCDS32516.1	ENSP00000367494	Q8WWL2		UPI00001C1FA8	NM_032451.1	deleterious(0)		7/15		PROSITE_profiles:PS51082,hmmpanther:PTHR21345,hmmpanther:PTHR21345:SF5																	MODERATE	1	SNV	1			1										PASS		rs1184028157	.												T	3	4	62	89856162	89856162	A	T	1	0	0	0	0	1	0	0	0	15425	217	8	4		4	SPIRE2	16	89856162	Missense_Mutation	SNP	A	C3N-00580_TP	1419479	89856162	482183	844	20304											
USP6	0	.	GRCh38	chr17	5137706	5137706	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttggtggaaggagaacAggtgttgatgccaataacca	13	10	13	5	0	0	2	0	1	0	1	0	4	0	3	2	4	3	2	2	4	5	4	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.881A>T	p.Gln294Leu	p.Q294L	ENST00000574788	20/38	163	106	57	289	289	0	strelka-varscan-mutect	USP6,missense_variant,p.Gln294Leu,ENST00000574788,NM_001304284.1;USP6,missense_variant,p.Gln294Leu,ENST00000250066,NM_004505.3;USP6,downstream_gene_variant,,ENST00000572429,;USP6,missense_variant,p.Gln294Leu,ENST00000575709,;USP6,missense_variant,p.Gln294Leu,ENST00000572949,;USP6,downstream_gene_variant,,ENST00000357482,;	T	ENST00000574788	Transcript	missense_variant	3111/8464	881/4221	294/1406	Q/L	cAg/cTg		1		1	USP6	HGNC	HGNC:12629	protein_coding	YES	CCDS11069.2	ENSP00000460380	P35125		UPI000006226F	NM_001304284.1	deleterious_low_confidence(0)		20/38		Pfam_domain:PF00566,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF233,SMART_domains:SM00164,Superfamily_domains:SSF47923																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	5137706	5137706	A	T	1	0	0	0	0	1	0	0	0	17629	188	7	4		4	USP6	17	5137706	Missense_Mutation	SNP	A	C3N-00580_TP		5137706	78119735	845	20305											
NLRP1	0	.	GRCh38	chr17	5530668	5530669	+	Frame_Shift_Del	DEL	GG	GG	-																															acaaagcagagacccgtgttGggccagcggtaggagccagc																								novel		C3N-00580_TP	C3N-00580_NB	GG	GG																c.3332_3333delCC	p.Pro1111GlnfsTer15	p.P1111Qfs*15	ENST00000617618	13/18	228	138	90	344	344	0	sindel-varindel	NLRP1,frameshift_variant,p.Pro1115GlnfsTer15,ENST00000262467,NM_001033053.2;NLRP1,frameshift_variant,p.Pro1111GlnfsTer15,ENST00000269280,NM_014922.4;NLRP1,frameshift_variant,p.Pro1111GlnfsTer15,ENST00000617618,NM_033004.3;NLRP1,frameshift_variant,p.Pro1081GlnfsTer15,ENST00000619223,NM_033006.3;NLRP1,frameshift_variant,p.Pro1111GlnfsTer15,ENST00000345221,;NLRP1,frameshift_variant,p.Pro1115GlnfsTer15,ENST00000613500,;NLRP1,frameshift_variant,p.Pro1111GlnfsTer15,ENST00000572272,;NLRP1,frameshift_variant,p.Pro1081GlnfsTer15,ENST00000354411,;NLRP1,frameshift_variant,p.Pro1081GlnfsTer15,ENST00000577119,NM_033007.3;NLRP1,non_coding_transcript_exon_variant,,ENST00000571307,;NLRP1,frameshift_variant,p.Pro1115GlnfsTer15,ENST00000544378,;NLRP1,3_prime_UTR_variant,,ENST00000571451,;	-	ENST00000617618	Transcript	frameshift_variant	3698-3699/4788	3332-3333/4422	1111/1473	P/X	cCC/c		1		-1	NLRP1	HGNC	HGNC:14374	protein_coding	YES	CCDS42246.1	ENSP00000478516	Q9C000		UPI0000038309	NM_033004.3			13/18		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF13,Pfam_domain:PF13553																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	62	5530668	5530668	GG	-	1	0	1	0	1	0	0	0	0	10508	1335	47	0		0	NLRP1	17	5530668	Frame_Shift_Del	DEL	GG	C3N-00580_TP	392962	5530668	77726773	846	20306	430	2									
NLRP1	0	.	GRCh38	chr17	5530670	5530670	+	Missense_Mutation	SNP	G	G	T																															aaagcagagacccgtgttggGccagcggtaggagccagcta																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.3331C>A	p.Pro1111Thr	p.P1111T	ENST00000617618	13/18	247	148	99	342	342	0	strelka-mutect	NLRP1,missense_variant,p.Pro1115Thr,ENST00000262467,NM_001033053.2;NLRP1,missense_variant,p.Pro1111Thr,ENST00000269280,NM_014922.4;NLRP1,missense_variant,p.Pro1111Thr,ENST00000617618,NM_033004.3;NLRP1,missense_variant,p.Pro1081Thr,ENST00000619223,NM_033006.3;NLRP1,missense_variant,p.Pro1111Thr,ENST00000345221,;NLRP1,missense_variant,p.Pro1115Thr,ENST00000613500,;NLRP1,missense_variant,p.Pro1111Thr,ENST00000572272,;NLRP1,missense_variant,p.Pro1081Thr,ENST00000354411,;NLRP1,missense_variant,p.Pro1081Thr,ENST00000577119,NM_033007.3;NLRP1,non_coding_transcript_exon_variant,,ENST00000571307,;NLRP1,missense_variant,p.Pro1115Thr,ENST00000544378,;NLRP1,3_prime_UTR_variant,,ENST00000571451,;	T	ENST00000617618	Transcript	missense_variant	3697/4788	3331/4422	1111/1473	P/T	Ccc/Acc		1		-1	NLRP1	HGNC	HGNC:14374	protein_coding	YES	CCDS42246.1	ENSP00000478516	Q9C000		UPI0000038309	NM_033004.3	deleterious(0)		13/18		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF13,Pfam_domain:PF13553																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	5530670	5530670	G	T	1	0	0	0	0	1	0	0	0	10508	1203	42	2		2	NLRP1	17	5530670	Missense_Mutation	SNP	G	C3N-00580_TP	2	5530670	77726771	847	20307	430	2									
WSCD1	0	.	GRCh38	chr17	6120339	6120339	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtcaacagctacgcctCgtggtggtcctcgcacgtcc	5	11	10	15	4	1	0	1	0	0	0	5	0	3	0	3	2	3	2	3	2	2	2	rs148765035		C3N-00580_TP	C3N-00580_NB	C	C																c.1406C>A	p.Ser469Ter	p.S469*	ENST00000574946	9/9	89	57	32	171	170	1	strelka-varscan-mutect	WSCD1,stop_gained,p.Ser469Ter,ENST00000574946,;WSCD1,stop_gained,p.Ser469Ter,ENST00000317744,NM_015253.1;WSCD1,stop_gained,p.Ser469Ter,ENST00000539421,;WSCD1,stop_gained,p.Ser469Ter,ENST00000574232,;WSCD1,stop_gained,p.Ser353Ter,ENST00000573634,;WSCD1,3_prime_UTR_variant,,ENST00000571494,;	A	ENST00000574946	Transcript	stop_gained	1796/5884	1406/1728	469/575	S/*	tCg/tAg	rs148765035,COSM3520476	1		1	WSCD1	HGNC	HGNC:29060	protein_coding	YES	CCDS32538.1	ENSP00000460825	Q658N2		UPI0000197208				9/9		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF90,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540											0,1						HIGH	1	SNV	2		0,1	1										PASS		rs148765035	.												A	4	1	62	6120339	6120339	C	A	1	0	0	0	0	0	1	0	0	17963	893	31	1		1	WSCD1	17	6120339	Nonsense_Mutation	SNP	C	C3N-00580_TP	589669	6120339	77137102	848	20308											
TP53	0	.	GRCh38	chr17	7673806	7673806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggacaggcacaaacacgcaCctcaaagctgttccgtccca	13	5	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs121912657		C3N-00580_TP	C3N-00580_NB	C	C																c.814G>T	p.Val272Leu	p.V272L	ENST00000269305	8/11	597	381	216	946	945	1	strelka-varscan-mutect	TP53,missense_variant,p.Val272Leu,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Val272Leu,ENST00000420246,;TP53,missense_variant,p.Val233Leu,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Val233Leu,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Val272Leu,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Val233Leu,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Val272Leu,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Val233Leu,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Val272Leu,ENST00000445888,;TP53,missense_variant,p.Val233Leu,ENST00000619485,;TP53,missense_variant,p.Val140Leu,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Val113Leu,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Val140Leu,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Val113Leu,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Val140Leu,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Val113Leu,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Val272Leu,ENST00000359597,;TP53,missense_variant,p.Val261Leu,ENST00000615910,;TP53,missense_variant,p.Val140Leu,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Val233Leu,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	1004/2579	814/1182	272/393	V/L	Gtg/Ttg	rs121912657,CM920676,TP53_g.13794G>T,TP53_g.13794del,TP53_g.13794G>C,TP53_g.13794G>A,COSM10859,COSM10891,COSM1177737,COSM13421,COSM1645249,COSM212313,COSM2744536,COSM2744537,COSM3388172,COSM3773300,COSM4271766,COSM45898,COSM99950	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		8/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										uncertain_significance,pathogenic	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs121912657	.												A	3	1	62	7673806	7673806	C	A	1	0	0	0	0	1	0	0	0	16859	507	18	2		2	TP53	17	7673806	Missense_Mutation	SNP	C	C3N-00580_TP	1553467	7673806	75583635	849	20309											
DNAH2	0	.	GRCh38	chr17	7740426	7740426	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccggtgcaggttccgTgccggaatcaaggacctgga	8	7	13	13	3	1	0	1	0	0	0	3	3	3	3	5	5	2	2	5	5	2	1	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1383T>G	p.=	p.R461R	ENST00000572933	10/86	81	60	21	158	158	0	strelka-varscan-mutect	DNAH2,synonymous_variant,p.=,ENST00000572933,NM_020877.3;DNAH2,synonymous_variant,p.=,ENST00000389173,;DNAH2,synonymous_variant,p.=,ENST00000570791,NM_001303270.1;DNAH2,upstream_gene_variant,,ENST00000575498,;	G	ENST00000572933	Transcript	synonymous_variant	2843/14955	1383/13284	461/4427	R	cgT/cgG		1		1	DNAH2	HGNC	HGNC:2948	protein_coding	YES	CCDS32551.1	ENSP00000458355	Q9P225		UPI00005B2F0D	NM_020877.3			10/86		hmmpanther:PTHR10676:SF183,hmmpanther:PTHR10676,Pfam_domain:PF08385																	LOW	1	SNV	1			1										PASS		rs1170773744	.												G	2	3	62	7740426	7740426	T	G	1	0	0	0	0	0	0	0	1	4417	1683	59	5		5	DNAH2	17	7740426	Silent	SNP	T	C3N-00580_TP	66620	7740426	75517015	850	20310											
MFSD6L	0	.	GRCh38	chr17	8798472	8798473	+	Frame_Shift_Ins	INS	-	-	C																															gctggattcccgggccctttINSccccccaggaagcaagggga																								rs34855885		C3N-00580_TP	C3N-00580_NB	-	-																c.648dupG	p.Lys217GlufsTer20	p.K217Efs*20	ENST00000329805	1/1	39	35	4	76	76	0	sindel-pindel	MFSD6L,frameshift_variant,p.Lys217GlufsTer20,ENST00000329805,NM_152599.3;PIK3R6,downstream_gene_variant,,ENST00000619866,NM_001010855.3,NM_001290211.1;PIK3R6,downstream_gene_variant,,ENST00000614407,;PIK3R6,downstream_gene_variant,,ENST00000611951,;PIK3R6,downstream_gene_variant,,ENST00000613555,;	C	ENST00000329805	Transcript	frameshift_variant	877-878/2188	648-649/1761	216-217/586	-/X	-/G	rs34855885	1		-1	MFSD6L	HGNC	HGNC:26656	protein_coding	YES	CCDS11146.1	ENSP00000330051	Q8IWD5		UPI0000141B5F	NM_152599.3			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR16172:SF22,hmmpanther:PTHR16172,Pfam_domain:PF12832																	HIGH		insertion				1										PASS		.	.												C	7	5	62	8798472	8798472	-	C	1	0	1	1	0	0	0	0	0	9494	1792	62	0		0	MFSD6L	17	8798472	Frame_Shift_Ins	INS	-	C3N-00580_TP	1058046	8798472	74458969	851	20311											
PIK3R5	0	.	GRCh38	chr17	8888367	8888367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcagggagcgggagcgctGggcccgggaagggggtgata	7	3	24	7	3	0	1	0	1	0	0	0	4	0	4	1	7	2	2	1	7	2	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1420C>A	p.Gln474Lys	p.Q474K	ENST00000447110	10/19	92	63	29	146	146	0	strelka-varscan-mutect	PIK3R5,missense_variant,p.Gln474Lys,ENST00000447110,NM_001142633.2;PIK3R5,missense_variant,p.Gln88Lys,ENST00000616147,NM_001251852.1;PIK3R5,missense_variant,p.Gln88Lys,ENST00000611902,NM_001251853.1,NM_001251851.1;PIK3R5,missense_variant,p.Gln88Lys,ENST00000623421,NM_001251855.1;PIK3R5,missense_variant,p.Gln474Lys,ENST00000581552,NM_014308.3;PIK3R5,missense_variant,p.Gln474Lys,ENST00000584803,;PIK3R5,downstream_gene_variant,,ENST00000578457,;PIK3R5,downstream_gene_variant,,ENST00000580959,;PIK3R5,downstream_gene_variant,,ENST00000584456,;PIK3R5,upstream_gene_variant,,ENST00000578743,;PIK3R5,downstream_gene_variant,,ENST00000577981,;PIK3R5,downstream_gene_variant,,ENST00000583812,;PIK3R5,3_prime_UTR_variant,,ENST00000269300,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000578515,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000583039,;PIK3R5,upstream_gene_variant,,ENST00000577214,;	T	ENST00000447110	Transcript	missense_variant	1550/4495	1420/2643	474/880	Q/K	Cag/Aag		1		-1	PIK3R5	HGNC	HGNC:30035	protein_coding	YES	CCDS11147.1	ENSP00000392812	Q8WYR1	L7RT34	UPI0000071DB4	NM_001142633.2	tolerated(1)		10/19		Pfam_domain:PF10486																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	8888367	8888367	G	T	1	0	0	0	0	1	0	0	0	12017	1357	47	2		2	PIK3R5	17	8888367	Missense_Mutation	SNP	G	C3N-00580_TP	89895	8888367	74369074	852	20312											
MYH4	0	.	GRCh38	chr17	10460291	10460291	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaggtcagcagagttcAgacttgtcagataagcagct	12	9	12	8	0	3	4	3	1	0	3	3	4	3	4	0	1	4	5	0	1	1	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1178T>G	p.Leu393Arg	p.L393R	ENST00000255381	13/40	66	57	9	101	101	0	strelka-varscan-mutect	MYH4,missense_variant,p.Leu393Arg,ENST00000255381,NM_017533.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	C	ENST00000255381	Transcript	missense_variant	1289/6016	1178/5820	393/1939	L/R	cTg/cGg		1		-1	MYH4	HGNC	HGNC:7574	protein_coding	YES	CCDS11154.1	ENSP00000255381	Q9Y623		UPI000013CEAB	NM_017533.2	deleterious(0)		13/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF271,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	10460291	10460291	A	C	1	0	0	0	0	1	0	0	0	10037	188	7	5		5	MYH4	17	10460291	Missense_Mutation	SNP	A	C3N-00580_TP	1571924	10460291	72797150	853	20313											
ZNF18	0	.	GRCh38	chr17	11990521	11990521	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctctgatcagcctttcctCcagtcgggcaggctgggagg	5	10	14	12	1	2	1	1	1	1	0	6	2	4	2	3	4	1	2	3	4	0	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.607G>T	p.Glu203Ter	p.E203*	ENST00000322748	6/9	134	78	56	218	218	0	strelka-varscan-mutect	ZNF18,stop_gained,p.Glu203Ter,ENST00000322748,NM_144680.3;ZNF18,stop_gained,p.Glu203Ter,ENST00000580306,NM_001303281.1;ZNF18,stop_gained,p.Glu203Ter,ENST00000454073,NM_001303282.1;ZNF18,stop_gained,p.Glu203Ter,ENST00000580613,;ZNF18,stop_gained,p.Glu27Ter,ENST00000582607,;ZNF18,stop_gained,p.Glu24Ter,ENST00000577671,;ZNF18,downstream_gene_variant,,ENST00000580903,;	A	ENST00000322748	Transcript	stop_gained	1212/2767	607/1650	203/549	E/*	Gag/Tag		1		-1	ZNF18	HGNC	HGNC:12969	protein_coding	YES	CCDS32568.1	ENSP00000315664	P17022		UPI00000703B9	NM_144680.3			6/9		hmmpanther:PTHR10032:SF11,hmmpanther:PTHR10032																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	62	11990521	11990521	C	A	1	0	0	0	0	0	1	0	0	18327	864	30	2		2	ZNF18	17	11990521	Nonsense_Mutation	SNP	C	C3N-00580_TP	1530230	11990521	71266920	854	20314											
WSB1	0	.	GRCh38	chr17	27303525	27303525	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcagttccagaaaaacAgagtcgctgtgtaaatatag	15	10	9	7	1	2	2	2	0	0	2	4	2	3	2	1	0	1	3	1	0	6	4	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.368A>G	p.Gln123Arg	p.Q123R	ENST00000262394	3/9	448	325	123	369	369	0	strelka-varscan-mutect	WSB1,missense_variant,p.Gln123Arg,ENST00000262394,NM_015626.8;WSB1,missense_variant,p.Gln123Arg,ENST00000581185,;WSB1,missense_variant,p.Gln92Arg,ENST00000427287,;WSB1,missense_variant,p.Gln130Arg,ENST00000581440,;WSB1,intron_variant,,ENST00000579733,;WSB1,intron_variant,,ENST00000348811,NM_134265.2;WSB1,intron_variant,,ENST00000583193,;WSB1,intron_variant,,ENST00000584114,;WSB1,downstream_gene_variant,,ENST00000583742,;WSB1,downstream_gene_variant,,ENST00000578312,;WSB1,downstream_gene_variant,,ENST00000583786,;WSB1,non_coding_transcript_exon_variant,,ENST00000467843,;WSB1,non_coding_transcript_exon_variant,,ENST00000487603,;WSB1,non_coding_transcript_exon_variant,,ENST00000583096,;WSB1,non_coding_transcript_exon_variant,,ENST00000581089,;WSB1,intron_variant,,ENST00000582208,;WSB1,downstream_gene_variant,,ENST00000584354,;	G	ENST00000262394	Transcript	missense_variant	684/5139	368/1266	123/421	Q/R	cAg/cGg		1		1	WSB1	HGNC	HGNC:19221	protein_coding	YES	CCDS11220.1	ENSP00000262394	Q9Y6I7	A0A024QZ51	UPI0000031568	NM_015626.8	tolerated(0.37)		3/9		hmmpanther:PTHR15622:SF12,hmmpanther:PTHR15622,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	27303525	27303525	A	G	1	0	0	0	0	1	0	0	0	17961	188	7	5		5	WSB1	17	27303525	Missense_Mutation	SNP	A	C3N-00580_TP	15313004	27303525	55953916	855	20315											
EFCAB5	0	.	GRCh38	chr17	30080224	30080224	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgaacagagtgctctacagGgacatgaaaggaatcaggta	15	7	12	7	0	2	3	1	2	1	1	2	5	2	5	0	3	3	2	0	3	5	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.3180G>A	p.=	p.R1060R	ENST00000394835	16/23	60	52	8	68	68	0	strelka-varscan-mutect	EFCAB5,synonymous_variant,p.=,ENST00000394835,NM_198529.3;EFCAB5,synonymous_variant,p.=,ENST00000419434,;EFCAB5,intron_variant,,ENST00000588978,;	A	ENST00000394835	Transcript	synonymous_variant	3372/5132	3180/4512	1060/1503	R	agG/agA		1		1	EFCAB5	HGNC	HGNC:24801	protein_coding	YES	CCDS11254.2	ENSP00000378312	A4FU69		UPI0000E59EF5	NM_198529.3			16/23		hmmpanther:PTHR31938,hmmpanther:PTHR31938:SF6,Superfamily_domains:SSF55781																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	30080224	30080224	G	A	1	0	0	0	0	0	0	0	1	4772	1223	43	3		3	EFCAB5	17	30080224	Silent	SNP	G	C3N-00580_TP	2776699	30080224	53177217	856	20316											
TBC1D29	0	.	GRCh38	chr17	30563292	30563292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagagagcagcagaggccCctcactcctgcagactcctc	9	6	9	17	0	2	3	2	0	0	3	5	4	4	3	4	1	3	3	4	1	0	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.320C>G	p.Pro107Arg	p.P107R	ENST00000580161	6/6	590	464	126	566	566	0	strelka-varscan-mutect	TBC1D29,missense_variant,p.Pro107Arg,ENST00000580161,;TBC1D29,missense_variant,p.Pro107Arg,ENST00000579181,NM_015594.2;TBC1D29,3_prime_UTR_variant,,ENST00000584297,;RP11-218M11.1,downstream_gene_variant,,ENST00000563063,;RP11-218M11.6,upstream_gene_variant,,ENST00000582125,;TBC1D29,non_coding_transcript_exon_variant,,ENST00000582511,;KRT17P3,downstream_gene_variant,,ENST00000420566,;RP11-271K11.1,downstream_gene_variant,,ENST00000578471,;	G	ENST00000580161	Transcript	missense_variant	2817/3018	320/453	107/150	P/R	cCc/cGc		1		1	TBC1D29	HGNC	HGNC:24509	protein_coding	YES	CCDS32606.1	ENSP00000462799	Q9UFV1		UPI00000702F8		deleterious(0)		6/6																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	30563292	30563292	C	G	1	0	0	0	0	1	0	0	0	16018	623	22	4		4	TBC1D29	17	30563292	Missense_Mutation	SNP	C	C3N-00580_TP	483068	30563292	52694149	857	20317											
SLFN14	0	.	GRCh38	chr17	35557378	35557378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatgcagaaacataatgagGcagcatttccttaatccgag	16	9	8	8	1	0	2	0	1	0	1	2	3	2	2	2	1	3	3	2	1	4	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.685C>A	p.Pro229Thr	p.P229T	ENST00000415846	1/4	276	171	105	280	280	0	strelka-varscan-mutect	SLFN14,missense_variant,p.Pro229Thr,ENST00000415846,NM_001129820.1;RP11-1094M14.14,downstream_gene_variant,,ENST00000591634,;RP11-1094M14.12,downstream_gene_variant,,ENST00000588445,;	T	ENST00000415846	Transcript	missense_variant	721/2889	685/2739	229/912	P/T	Cct/Act		1		-1	SLFN14	HGNC	HGNC:32689	protein_coding	YES	CCDS45650.1	ENSP00000391101	P0C7P3		UPI000041A9FB	NM_001129820.1	deleterious(0.01)		1/4		hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF30,Pfam_domain:PF04326																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	35557378	35557378	G	T	1	0	0	0	0	1	0	0	0	15026	1203	42	2		2	SLFN14	17	35557378	Missense_Mutation	SNP	G	C3N-00580_TP	4994086	35557378	47700063	858	20318											
KRTAP4-11	0	.	GRCh38	chr17	41118194	41118194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacacacagcagctggggCgacagtaggtggtcctgcag	9	6	16	10	1	0	0	0	0	0	0	1	2	1	1	1	5	3	4	1	5	1	1	rs750400835		C3N-00580_TP	C3N-00580_NB	C	C																c.122G>A	p.Arg41His	p.R41H	ENST00000391413	1/1	399	338	61	406	406	0	strelka-varscan-mutect	KRTAP4-11,missense_variant,p.Arg41His,ENST00000391413,NM_001322457.1,NM_033059.3;KRTAP4-12,downstream_gene_variant,,ENST00000394014,NM_031854.2;	T	ENST00000391413	Transcript	missense_variant	167/1180	122/588	41/195	R/H	cGc/cAc	rs750400835,COSM3402868	1		-1	KRTAP4-11	HGNC	HGNC:18911	protein_coding	YES	CCDS45675.1	ENSP00000375232	Q9BYQ6		UPI00001AFBF7	NM_001322457.1,NM_033059.3	tolerated(0.06)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF1,hmmpanther:PTHR23262,Pfam_domain:PF13885											0,1						MODERATE	1	SNV			0,1	1										PASS		rs750400835	.												T	3	4	62	41118194	41118194	C	T	1	0	0	0	0	1	0	0	0	8442	768	27	1		1	KRTAP4-11	17	41118194	Missense_Mutation	SNP	C	C3N-00580_TP	5560816	41118194	42139247	859	20319											
KRTAP4-12	0	.	GRCh38	chr17	41123570	41123570	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaggtggagatgacacAggttgggcgatagcaagtgg	10	6	20	5	1	0	2	0	1	0	1	0	4	0	2	0	7	1	3	0	7	2	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.553T>A	p.Cys185Ser	p.C185S	ENST00000394014	1/1	256	199	57	212	211	1	strelka-varscan-mutect	KRTAP4-12,missense_variant,p.Cys185Ser,ENST00000394014,NM_031854.2;	T	ENST00000394014	Transcript	missense_variant	598/1077	553/606	185/201	C/S	Tgt/Agt		1		-1	KRTAP4-12	HGNC	HGNC:16776	protein_coding	YES	CCDS32649.1	ENSP00000377582	Q9BQ66		UPI0000072F19	NM_031854.2	deleterious(0.02)		1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF1																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	62	41123570	41123570	A	T	1	0	0	0	0	1	0	0	0	8443	188	7	4		4	KRTAP4-12	17	41123570	Missense_Mutation	SNP	A	C3N-00580_TP	5376	41123570	42133871	860	20320											
KRT13	0	.	GRCh38	chr17	41505382	41505382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctccaaagccactaccagCccctccaccaaaaccacagc	14	3	3	21	0	0	0	0	0	0	0	2	0	2	0	9	0	5	0	9	0	4	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.169G>T	p.Ala57Ser	p.A57S	ENST00000246635	1/8	214	173	41	163	163	0	strelka-varscan-mutect	KRT13,missense_variant,p.Ala57Ser,ENST00000246635,NM_153490.2;KRT13,missense_variant,p.Ala57Ser,ENST00000336861,NM_002274.3;KRT13,missense_variant,p.Ala57Ser,ENST00000587544,;KRT13,missense_variant,p.Ala57Ser,ENST00000587435,;KRT13,intron_variant,,ENST00000590425,;AC019349.5,downstream_gene_variant,,ENST00000411759,;KRT13,upstream_gene_variant,,ENST00000587118,;KRT13,upstream_gene_variant,,ENST00000475217,;KRT13,intron_variant,,ENST00000468313,;KRT13,intron_variant,,ENST00000464634,;	A	ENST00000246635	Transcript	missense_variant	216/1699	169/1377	57/458	A/S	Gct/Tct		1		-1	KRT13	HGNC	HGNC:6415	protein_coding	YES	CCDS11396.1	ENSP00000246635	P13646		UPI000013CBF6	NM_153490.2	tolerated(0.75)		1/8		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF121,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1261980775	.												A	3	1	62	41505382	41505382	C	A	1	0	0	0	0	1	0	0	0	8332	739	26	2		2	KRT13	17	41505382	Missense_Mutation	SNP	C	C3N-00580_TP	381812	41505382	41752059	861	20321											
STAT5B	0	.	GRCh38	chr17	42217279	42217279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacctcttaattcgtttcaGggactacaaagaagaaacat	15	11	7	8	1	2	3	1	1	1	2	3	4	2	4	1	1	2	1	1	1	5	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1261C>A	p.Leu421Met	p.L421M	ENST00000293328	11/19	801	624	177	715	715	0	strelka-varscan-mutect	STAT5B,missense_variant,p.Leu421Met,ENST00000293328,NM_012448.3;STAT5B,non_coding_transcript_exon_variant,,ENST00000481517,;STAT5B,non_coding_transcript_exon_variant,,ENST00000468496,;STAT5B,downstream_gene_variant,,ENST00000468312,;	T	ENST00000293328	Transcript	missense_variant	1430/5103	1261/2364	421/787	L/M	Ctg/Atg		1		-1	STAT5B	HGNC	HGNC:11367	protein_coding	YES	CCDS11423.1	ENSP00000293328	P51692		UPI000006F059	NM_012448.3	deleterious(0)		11/19		Gene3D:2.60.40.630,Pfam_domain:PF02864,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF39,Superfamily_domains:SSF49417																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	42217279	42217279	G	T	1	0	0	0	0	1	0	0	0	15645	1014	35	2		2	STAT5B	17	42217279	Missense_Mutation	SNP	G	C3N-00580_TP	711897	42217279	41040162	862	20322											
STAT5B	0	.	GRCh38	chr17	42219793	42219793	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgctggagggccgtctcCcggctcagacgctcctgggg	3	9	15	14	3	3	1	1	0	2	1	5	2	4	2	3	5	1	3	3	5	0	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.600G>T	p.=	p.R200R	ENST00000293328	6/19	140	62	78	150	149	1	strelka-varscan-mutect	STAT5B,synonymous_variant,p.=,ENST00000293328,NM_012448.3;STAT5B,downstream_gene_variant,,ENST00000415845,;STAT5B,non_coding_transcript_exon_variant,,ENST00000468312,;STAT5B,upstream_gene_variant,,ENST00000481517,;STAT5B,upstream_gene_variant,,ENST00000468496,;	A	ENST00000293328	Transcript	synonymous_variant	769/5103	600/2364	200/787	R	cgG/cgT		1		-1	STAT5B	HGNC	HGNC:11367	protein_coding	YES	CCDS11423.1	ENSP00000293328	P51692		UPI000006F059	NM_012448.3			6/19		Gene3D:1bg1A01,Pfam_domain:PF01017,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF39,Superfamily_domains:SSF47655																	LOW	1	SNV	1			1										PASS		rs1390762705	.												A	2	1	62	42219793	42219793	C	A	1	0	0	0	0	0	0	0	1	15645	610	22	2		2	STAT5B	17	42219793	Silent	SNP	C	C3N-00580_TP	2514	42219793	41037648	863	20323											
STAT3	0	.	GRCh38	chr17	42325041	42325041	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagatgttggagatcacCacaactggcaaggagtgggt	12	8	14	7	0	1	3	1	1	0	2	1	5	1	4	1	4	1	2	1	4	2	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1386G>T	p.=	p.V462V	ENST00000264657	16/24	238	158	80	196	196	0	strelka-varscan-mutect	STAT3,synonymous_variant,p.=,ENST00000264657,NM_139276.2;STAT3,synonymous_variant,p.=,ENST00000585517,NM_213662.1;STAT3,synonymous_variant,p.=,ENST00000588969,;STAT3,synonymous_variant,p.=,ENST00000404395,NM_003150.3;STAT3,synonymous_variant,p.=,ENST00000389272,;STAT3,non_coding_transcript_exon_variant,,ENST00000471989,;STAT3,non_coding_transcript_exon_variant,,ENST00000498330,;STAT3,downstream_gene_variant,,ENST00000478276,;	A	ENST00000264657	Transcript	synonymous_variant	1699/5047	1386/2313	462/770	V	gtG/gtT		1		-1	STAT3	HGNC	HGNC:11364	protein_coding	YES	CCDS32656.1	ENSP00000264657	P40763		UPI0000031047	NM_139276.2			16/24		hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF2,Pfam_domain:PF02864,Gene3D:2.60.40.630,Superfamily_domains:SSF49417																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	42325041	42325041	C	A	1	0	0	0	0	0	0	0	1	15642	581	21	2		2	STAT3	17	42325041	Silent	SNP	C	C3N-00580_TP	105248	42325041	40932400	864	20324											
CNTNAP1	0	.	GRCh38	chr17	42685282	42685282	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcccgcgaggggtcagcCgaagcctgtgggacgtgttc	5	8	16	12	4	1	0	1	0	0	0	3	3	2	1	3	3	2	2	3	3	1	2	rs752924771		C3N-00580_TP	C3N-00580_NB	C	C																c.577C>T	p.Arg193Ter	p.R193*	ENST00000264638	5/24	409	275	134	447	447	0	strelka-varscan-mutect	CNTNAP1,stop_gained,p.Arg193Ter,ENST00000264638,NM_003632.2;CCR10,upstream_gene_variant,,ENST00000591765,;CCR10,upstream_gene_variant,,ENST00000332438,NM_016602.2;CCR10,upstream_gene_variant,,ENST00000591568,;CTD-3193K9.3,intron_variant,,ENST00000592440,;CTD-3193K9.4,downstream_gene_variant,,ENST00000593139,;CNTNAP1,stop_gained,p.Arg193Ter,ENST00000591662,;CNTNAP1,upstream_gene_variant,,ENST00000586801,;CNTNAP1,upstream_gene_variant,,ENST00000585534,;	T	ENST00000264638	Transcript	stop_gained	794/5276	577/4155	193/1384	R/*	Cga/Tga	rs752924771	1		1	CNTNAP1	HGNC	HGNC:8011	protein_coding	YES	CCDS11436.1	ENSP00000264638	P78357		UPI00001285F6	NM_003632.2			5/24		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF4,Superfamily_domains:SSF49899																	HIGH	1	SNV	1			1										PASS		rs752924771	.												T	4	4	62	42685282	42685282	C	T	1	0	0	0	0	0	1	0	0	3427	644	23	1		1	CNTNAP1	17	42685282	Nonsense_Mutation	SNP	C	C3N-00580_TP	360241	42685282	40572159	865	20325											
RPL27	0	.	GRCh38	chr17	43002704	43002704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatccccttggacaaaactGtcgtcaataaggatgtcttc	12	12	7	10	1	2	0	1	0	1	0	5	2	3	2	2	2	1	0	2	2	5	4	rs765351338		C3N-00580_TP	C3N-00580_NB	G	G																c.283G>C	p.Val95Leu	p.V95L	ENST00000589913	3/4	289	230	59	285	285	0	strelka-varscan-mutect	RPL27,missense_variant,p.Val95Leu,ENST00000589913,;RPL27,missense_variant,p.Val95Leu,ENST00000589037,;RPL27,missense_variant,p.Val39Leu,ENST00000590864,;RPL27,missense_variant,p.Val95Leu,ENST00000253788,NM_000988.3;RPL27,missense_variant,p.Val103Leu,ENST00000586277,;IFI35,upstream_gene_variant,,ENST00000415816,;IFI35,upstream_gene_variant,,ENST00000438323,NM_005533.4;IFI35,upstream_gene_variant,,ENST00000536969,;RPL27,missense_variant,p.Cys38Ser,ENST00000588830,;RPL27,non_coding_transcript_exon_variant,,ENST00000593262,;IFI35,upstream_gene_variant,,ENST00000246911,;IFI35,upstream_gene_variant,,ENST00000396722,;RPL27,downstream_gene_variant,,ENST00000587478,;	C	ENST00000589913	Transcript	missense_variant	557/697	283/411	95/136	V/L	Gtc/Ctc	rs765351338	1		1	RPL27	HGNC	HGNC:10328	protein_coding	YES	CCDS11449.1	ENSP00000464813	P61353	A0A024R1V4	UPI00000002E0		tolerated(0.18)		3/4		hmmpanther:PTHR10497:SF1,hmmpanther:PTHR10497,Pfam_domain:PF01777,Gene3D:2.30.30.30,Superfamily_domains:SSF50104,PD009396																	MODERATE	1	SNV	1			1										PASS		rs765351338	.												C	3	2	62	43002704	43002704	G	C	1	0	0	0	0	1	0	0	0	13827	1377	48	4		4	RPL27	17	43002704	Missense_Mutation	SNP	G	C3N-00580_TP	317422	43002704	40254737	866	20326											
SLC4A1	0	.	GRCh38	chr17	44257440	44257440	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcgggagatgaagcggacCaggaagctaccctcgaaggc	12	4	15	10	3	0	2	0	1	0	1	1	6	0	4	2	4	4	1	2	4	5	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1536G>T	p.=	p.L512L	ENST00000262418	13/20	475	358	117	438	438	0	strelka-varscan-mutect	SLC4A1,synonymous_variant,p.=,ENST00000262418,NM_000342.3;SLC4A1,intron_variant,,ENST00000399246,;SLC4A1,downstream_gene_variant,,ENST00000471005,;SLC4A1,non_coding_transcript_exon_variant,,ENST00000497360,;SLC4A1,downstream_gene_variant,,ENST00000498270,;	A	ENST00000262418	Transcript	synonymous_variant	1692/4965	1536/2736	512/911	L	ctG/ctT		1		-1	SLC4A1	HGNC	HGNC:11027	protein_coding	YES	CCDS11481.1	ENSP00000262418	P02730		UPI00000375B8	NM_000342.3			13/20		Pfam_domain:PF00955,Prints_domain:PR01231,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,TIGRFAM_domain:TIGR00834,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	44257440	44257440	C	A	1	0	0	0	0	0	0	0	1	14927	581	21	2		2	SLC4A1	17	44257440	Silent	SNP	C	C3N-00580_TP	1254736	44257440	39000001	867	20327											
MEIOC	0	.	GRCh38	chr17	44667438	44667438	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttaagtgcagcttcaaaAggttctaaccattcttcaga	13	13	6	9	0	4	1	2	0	2	1	4	1	4	1	1	1	3	3	1	1	4	7	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1527A>T	p.Lys509Asn	p.K509N	ENST00000409122	5/8	73	55	18	92	92	0	strelka-varscan-mutect	MEIOC,missense_variant,p.Lys509Asn,ENST00000409122,NM_001145080.2;MEIOC,missense_variant,p.Lys343Asn,ENST00000409464,;MEIOC,downstream_gene_variant,,ENST00000432494,;MEIOC,downstream_gene_variant,,ENST00000456912,;MEIOC,upstream_gene_variant,,ENST00000472403,;	T	ENST00000409122	Transcript	missense_variant	1669/4604	1527/2859	509/952	K/N	aaA/aaT		1		1	MEIOC	HGNC	HGNC:26670	protein_coding	YES	CCDS45703.2	ENSP00000386452	A2RUB1		UPI0001881A86	NM_001145080.2	deleterious(0)		5/8		hmmpanther:PTHR33861,hmmpanther:PTHR33861:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	44667438	44667438	A	T	1	0	0	0	0	1	0	0	0	9410	69	3	4		4	MEIOC	17	44667438	Missense_Mutation	SNP	A	C3N-00580_TP	409998	44667438	38590003	868	20328											
MEIOC	0	.	GRCh38	chr17	44667977	44667977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acttggttcaaatgggtttcCcctaagatccacccacccat	10	11	6	14	0	1	1	1	0	0	1	3	1	3	1	5	2	0	2	5	2	2	4	rs767292987		C3N-00580_TP	C3N-00580_NB	C	C																c.2066C>A	p.Pro689His	p.P689H	ENST00000409122	5/8	179	140	39	166	166	0	strelka-varscan-mutect	MEIOC,missense_variant,p.Pro689His,ENST00000409122,NM_001145080.2;MEIOC,missense_variant,p.Pro523His,ENST00000409464,;MEIOC,downstream_gene_variant,,ENST00000432494,;MEIOC,downstream_gene_variant,,ENST00000456912,;MEIOC,upstream_gene_variant,,ENST00000472403,;	A	ENST00000409122	Transcript	missense_variant	2208/4604	2066/2859	689/952	P/H	cCc/cAc	rs767292987	1		1	MEIOC	HGNC	HGNC:26670	protein_coding	YES	CCDS45703.2	ENSP00000386452	A2RUB1		UPI0001881A86	NM_001145080.2	deleterious(0)		5/8		hmmpanther:PTHR33861,hmmpanther:PTHR33861:SF3																	MODERATE	1	SNV	5			1										PASS		rs767292987	.												A	3	1	62	44667977	44667977	C	A	1	0	0	0	0	1	0	0	0	9410	623	22	2		2	MEIOC	17	44667977	Missense_Mutation	SNP	C	C3N-00580_TP	539	44667977	38589464	869	20329											
OSBPL7	0	.	GRCh38	chr17	47808983	47808983	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcgctcatggtcggggggCattgagtctgggggaaggca	6	10	18	7	2	2	1	1	1	1	0	4	2	2	2	0	7	0	3	0	7	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2178G>C	p.Met726Ile	p.M726I	ENST00000007414	21/23	214	128	86	217	217	0	strelka-varscan-mutect	OSBPL7,missense_variant,p.Met726Ile,ENST00000007414,NM_145798.2;OSBPL7,missense_variant,p.Met726Ile,ENST00000392507,;OSBPL7,3_prime_UTR_variant,,ENST00000613735,;OSBPL7,3_prime_UTR_variant,,ENST00000579728,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000583167,;OSBPL7,intron_variant,,ENST00000578461,;	G	ENST00000007414	Transcript	missense_variant	2370/3640	2178/2529	726/842	M/I	atG/atC		1		-1	OSBPL7	HGNC	HGNC:16387	protein_coding	YES	CCDS11515.1	ENSP00000007414	Q9BZF2		UPI0000130E98	NM_145798.2	deleterious(0.03)		21/23		hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF85,Pfam_domain:PF01237,Superfamily_domains:0051579																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	47808983	47808983	C	G	1	0	0	0	0	1	0	0	0	11348	710	25	4		4	OSBPL7	17	47808983	Missense_Mutation	SNP	C	C3N-00580_TP	3141006	47808983	35448458	870	20330											
SCRN2	0	.	GRCh38	chr17	47838637	47838637	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgaaagcctcccgagtccaTacagataccactctccttgt	10	9	7	15	2	1	1	0	0	1	1	4	3	3	1	5	0	3	0	5	0	3	3	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.832A>G	p.Met278Val	p.M278V	ENST00000290216	6/8	265	184	81	286	286	0	strelka-varscan-mutect	SCRN2,missense_variant,p.Met278Val,ENST00000407215,NM_001145023.1;SCRN2,missense_variant,p.Met286Val,ENST00000584123,;SCRN2,missense_variant,p.Met278Val,ENST00000290216,NM_138355.3;SCRN2,missense_variant,p.Met144Val,ENST00000584567,;LRRC46,downstream_gene_variant,,ENST00000269025,NM_033413.3;SCRN2,downstream_gene_variant,,ENST00000578323,;SCRN2,3_prime_UTR_variant,,ENST00000582459,;SCRN2,3_prime_UTR_variant,,ENST00000581645,;SCRN2,3_prime_UTR_variant,,ENST00000579856,;LRRC46,downstream_gene_variant,,ENST00000584580,;SCRN2,downstream_gene_variant,,ENST00000581546,;SCRN2,downstream_gene_variant,,ENST00000578840,;LRRC46,downstream_gene_variant,,ENST00000579971,;LRRC46,downstream_gene_variant,,ENST00000584809,;LRRC46,downstream_gene_variant,,ENST00000579742,;SCRN2,downstream_gene_variant,,ENST00000580428,;SCRN2,downstream_gene_variant,,ENST00000583090,;SCRN2,downstream_gene_variant,,ENST00000582656,;	C	ENST00000290216	Transcript	missense_variant	958/1548	832/1278	278/425	M/V	Atg/Gtg		1		-1	SCRN2	HGNC	HGNC:30381	protein_coding	YES	CCDS11519.1	ENSP00000290216	Q96FV2		UPI000013DFCB	NM_138355.3	tolerated(0.29)		6/8		hmmpanther:PTHR12994,hmmpanther:PTHR12994:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	47838637	47838637	T	C	1	0	0	0	0	1	0	0	0	14209	1406	49	5		5	SCRN2	17	47838637	Missense_Mutation	SNP	T	C3N-00580_TP	29654	47838637	35418804	871	20331											
PHOSPHO1	0	.	GRCh38	chr17	49224420	49224420	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccgccagcagccccatGgggcagaagtcgttggcgcc	6	4	14	17	4	0	1	0	0	0	1	1	1	0	1	6	3	2	3	6	3	1	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.705C>A	p.=	p.P235P	ENST00000413580	3/3	161	111	50	147	147	0	strelka-varscan-mutect	PHOSPHO1,synonymous_variant,p.=,ENST00000413580,NM_001143804.1;PHOSPHO1,synonymous_variant,p.=,ENST00000310544,NM_178500.3;PHOSPHO1,synonymous_variant,p.=,ENST00000514112,;ABI3,downstream_gene_variant,,ENST00000225941,NM_016428.2;ABI3,downstream_gene_variant,,ENST00000419580,NM_001135186.1;PHOSPHO1,downstream_gene_variant,,ENST00000511066,;ABI3,downstream_gene_variant,,ENST00000571035,;PHOSPHO1,downstream_gene_variant,,ENST00000503902,;ABI3,downstream_gene_variant,,ENST00000573347,;PHOSPHO1,downstream_gene_variant,,ENST00000512250,;PHOSPHO1,downstream_gene_variant,,ENST00000574638,;	T	ENST00000413580	Transcript	synonymous_variant	1123/2173	705/879	235/292	P	ccC/ccA		1		-1	PHOSPHO1	HGNC	HGNC:16815	protein_coding	YES	CCDS45726.1	ENSP00000406909	Q8TCT1		UPI000189C296	NM_001143804.1			3/3		Gene3D:3.40.50.1000,Pfam_domain:PF06888,PIRSF_domain:PIRSF031051,hmmpanther:PTHR20889,hmmpanther:PTHR20889:SF2,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01488,TIGRFAM_domain:TIGR01489																	LOW		SNV	2			1										PASS		.	.												T	2	4	62	49224420	49224420	G	T	1	0	0	0	0	0	0	0	1	11944	1335	47	2		2	PHOSPHO1	17	49224420	Silent	SNP	G	C3N-00580_TP	1385783	49224420	34033021	872	20332											
KIF2B	0	.	GRCh38	chr17	53824481	53824481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctcaaagaatgtattcTggctttgggtcagaacaagc	12	10	10	9	0	3	2	2	0	1	2	3	2	3	2	1	2	3	2	1	2	5	3	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1448T>C	p.Leu483Pro	p.L483P	ENST00000268919	1/1	163	127	36	171	171	0	strelka-varscan-mutect	KIF2B,missense_variant,p.Leu483Pro,ENST00000268919,NM_032559.4;	C	ENST00000268919	Transcript	missense_variant	1581/2313	1448/2022	483/673	L/P	cTg/cCg		1		1	KIF2B	HGNC	HGNC:29443	protein_coding	YES	CCDS32685.1	ENSP00000268919	Q8N4N8	A0A140VKG5	UPI000013D7E6	NM_032559.4	deleterious(0)		1/1		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF524,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	62	53824481	53824481	T	C	1	0	0	0	0	1	0	0	0	8163	1580	55	5		5	KIF2B	17	53824481	Missense_Mutation	SNP	T	C3N-00580_TP	4600061	53824481	29432960	873	20333											
KIF2B	0	.	GRCh38	chr17	53824904	53824904	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatggctggaaaacatccAggagagagctggtggagtac	13	6	14	8	0	0	1	0	0	0	1	1	5	1	4	2	5	3	3	2	5	4	1	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1871A>T	p.Gln624Leu	p.Q624L	ENST00000268919	1/1	183	138	45	225	225	0	strelka-varscan-mutect	KIF2B,missense_variant,p.Gln624Leu,ENST00000268919,NM_032559.4;	T	ENST00000268919	Transcript	missense_variant	2004/2313	1871/2022	624/673	Q/L	cAg/cTg		1		1	KIF2B	HGNC	HGNC:29443	protein_coding	YES	CCDS32685.1	ENSP00000268919	Q8N4N8	A0A140VKG5	UPI000013D7E6	NM_032559.4	tolerated(1)		1/1		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF524																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	62	53824904	53824904	A	T	1	0	0	0	0	1	0	0	0	8163	188	7	4		4	KIF2B	17	53824904	Missense_Mutation	SNP	A	C3N-00580_TP	423	53824904	29432537	874	20334											
RNFT1	0	.	GRCh38	chr17	59953016	59953016	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgaagtggctccatccttCcatttgtttatatggtctga	8	16	9	8	0	1	2	0	2	1	0	4	3	4	2	3	2	0	2	3	2	3	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1269G>C	p.Trp423Cys	p.W423C	ENST00000305783	9/9	186	111	75	148	148	0	strelka-varscan-mutect	RNFT1,missense_variant,p.Trp423Cys,ENST00000305783,NM_016125.3;RP11-178C3.1,intron_variant,,ENST00000591035,;RPS6KB1,downstream_gene_variant,,ENST00000393021,NM_001272044.1;RPS6KB1,downstream_gene_variant,,ENST00000225577,NM_001272060.1,NM_003161.3;RPS6KB1,downstream_gene_variant,,ENST00000406116,NM_001272043.1;RPS6KB1,downstream_gene_variant,,ENST00000587061,;RNFT1,3_prime_UTR_variant,,ENST00000482446,;RNFT1,3_prime_UTR_variant,,ENST00000466544,;RNFT1,downstream_gene_variant,,ENST00000486103,;RNFT1,downstream_gene_variant,,ENST00000484257,;	G	ENST00000305783	Transcript	missense_variant	1325/2101	1269/1308	423/435	W/C	tgG/tgC		1		-1	RNFT1	HGNC	HGNC:30206	protein_coding	YES	CCDS11622.2	ENSP00000304670	Q5M7Z0		UPI0000D4C2BF	NM_016125.3	deleterious(0)		9/9		hmmpanther:PTHR15860,hmmpanther:PTHR15860:SF1,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	59953016	59953016	C	G	1	0	0	0	0	1	0	0	0	13681	856	30	4		4	RNFT1	17	59953016	Missense_Mutation	SNP	C	C3N-00580_TP	6128112	59953016	23304425	875	20335											
HELZ	0	.	GRCh38	chr17	67107540	67107540	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctactgtggtctgtacTggatgggggagatgggactg	6	11	19	5	0	1	1	0	0	1	1	1	4	1	3	0	6	2	2	0	6	2	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.4870A>T	p.Ser1624Cys	p.S1624C	ENST00000358691	31/33	433	327	106	434	434	0	strelka-varscan-mutect	HELZ,missense_variant,p.Ser1624Cys,ENST00000358691,NM_014877.3;HELZ,missense_variant,p.Ser1625Cys,ENST00000580168,;HELZ,3_prime_UTR_variant,,ENST00000579953,;	A	ENST00000358691	Transcript	missense_variant	5037/13810	4870/5829	1624/1942	S/C	Agt/Tgt		1		-1	HELZ	HGNC	HGNC:16878	protein_coding	YES	CCDS42374.1	ENSP00000351524	P42694		UPI000013D7F5	NM_014877.3	deleterious_low_confidence(0.01)		31/33		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF365,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	67107540	67107540	T	A	1	0	0	0	0	1	0	0	0	6931	1580	55	4		4	HELZ	17	67107540	Missense_Mutation	SNP	T	C3N-00580_TP	7154524	67107540	16149901	876	20336											
ABCA10	0	.	GRCh38	chr17	69152393	69152393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacaccatcatggccatacGgtcacacacagcctcagcct	11	7	7	16	1	3	1	3	1	0	0	3	1	3	1	4	2	3	0	4	2	1	1	rs771145174		C3N-00580_TP	C3N-00580_NB	G	G																c.4225C>T	p.Arg1409Cys	p.R1409C	ENST00000269081	36/40	151	133	18	123	123	0	strelka-varscan-mutect	ABCA10,missense_variant,p.Arg1409Cys,ENST00000269081,NM_080282.3;ABCA10,upstream_gene_variant,,ENST00000521538,;ABCA10,upstream_gene_variant,,ENST00000522787,;ABCA10,non_coding_transcript_exon_variant,,ENST00000519732,;ABCA10,3_prime_UTR_variant,,ENST00000522406,;ABCA10,3_prime_UTR_variant,,ENST00000518929,;ABCA10,3_prime_UTR_variant,,ENST00000523419,;ABCA10,upstream_gene_variant,,ENST00000524231,;ABCA10,upstream_gene_variant,,ENST00000588514,;	A	ENST00000269081	Transcript	missense_variant	5135/6362	4225/4632	1409/1543	R/C	Cgt/Tgt	rs771145174	1		-1	ABCA10	HGNC	HGNC:30	protein_coding	YES	CCDS11684.1	ENSP00000269081	Q8WWZ4		UPI000013D7F6	NM_080282.3	deleterious(0.01)		36/40		PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF140,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs771145174	.												A	3	1	62	69152393	69152393	G	A	1	0	0	0	0	1	0	0	0	33	1116	39	1		1	ABCA10	17	69152393	Missense_Mutation	SNP	G	C3N-00580_TP	2044853	69152393	14105048	877	20337											
BTBD17	0	.	GRCh38	chr17	74356697	74356697	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtggtatacgggcttgAcgatgaggtgcaggtgcagg	7	9	20	5	2	0	2	0	2	0	0	0	3	0	2	0	6	3	4	0	6	2	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1397T>A	p.Val466Asp	p.V466D	ENST00000375366	3/3	116	95	21	100	100	0	strelka-varscan-mutect	BTBD17,missense_variant,p.Val466Asp,ENST00000375366,NM_001080466.1;KIF19,downstream_gene_variant,,ENST00000389916,NM_153209.3;KIF19,downstream_gene_variant,,ENST00000551294,;	T	ENST00000375366	Transcript	missense_variant	1524/1805	1397/1437	466/478	V/D	gTc/gAc		1		-1	BTBD17	HGNC	HGNC:33758	protein_coding	YES	CCDS32719.1	ENSP00000364515	A6NE02		UPI00001D7961	NM_001080466.1	deleterious(0)		3/3		hmmpanther:PTHR24410:SF12,hmmpanther:PTHR24410																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	62	74356697	74356697	A	T	1	0	0	0	0	1	0	0	0	1716	275	10	4		4	BTBD17	17	74356697	Missense_Mutation	SNP	A	C3N-00580_TP	5204304	74356697	8900744	878	20338											
TMEM104	0	.	GRCh38	chr17	74836677	74836677	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatatcatcctcagcgagaCcaagctctgatggcaggaca	13	7	9	12	1	3	2	2	1	1	1	4	4	4	3	2	2	2	2	2	2	3	1			C3N-00580_TP	C3N-00580_NB	C	C																c.1481C>G	p.Thr494Ser	p.T494S	ENST00000335464	10/10	77	56	21	59	59	0	strelka-varscan-mutect	TMEM104,missense_variant,p.Thr494Ser,ENST00000335464,NM_017728.3;TMEM104,missense_variant,p.Thr494Ser,ENST00000582330,;TMEM104,intron_variant,,ENST00000417024,;TMEM104,intron_variant,,ENST00000582773,NM_001321264.1;TMEM104,upstream_gene_variant,,ENST00000584171,;	G	ENST00000335464	Transcript	missense_variant	1643/4745	1481/1491	494/496	T/S	aCc/aGc	COSM5045991	1		1	TMEM104	HGNC	HGNC:25984	protein_coding	YES	CCDS32723.1	ENSP00000334849	Q8NE00	A0A024R8L3	UPI00002001C9	NM_017728.3	tolerated_low_confidence(0.2)		10/10		hmmpanther:PTHR16189,hmmpanther:PTHR16189:SF0											1						MODERATE	1	SNV	1		1	1										PASS		rs989352666	.												G	3	3	62	74836677	74836677	C	G	1	0	0	0	0	1	0	0	0	16462	507	18	4		4	TMEM104	17	74836677	Missense_Mutation	SNP	C	C3N-00580_TP	479980	74836677	8420764	879	20339											
USH1G	0	.	GRCh38	chr17	74920224	74920224	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggccgtgccgtgcagcgtGgcctgagagtacggcaggtg	5	7	18	11	4	0	1	0	1	0	1	0	2	0	1	3	4	4	3	3	4	1	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.612C>A	p.=	p.A204A	ENST00000614341	2/3	428	271	157	310	310	0	strelka-varscan-mutect	USH1G,synonymous_variant,p.=,ENST00000614341,NM_001282489.2,NM_173477.4;OTOP2,upstream_gene_variant,,ENST00000331427,NM_178160.2;OTOP2,upstream_gene_variant,,ENST00000580223,;USH1G,3_prime_UTR_variant,,ENST00000579243,;OTOP2,upstream_gene_variant,,ENST00000584711,;	T	ENST00000614341	Transcript	synonymous_variant	795/3558	612/1386	204/461	A	gcC/gcA		1		-1	USH1G	HGNC	HGNC:16356	protein_coding	YES	CCDS32725.1	ENSP00000480279	Q495M9		UPI00001BC010	NM_001282489.2,NM_173477.4			2/3		hmmpanther:PTHR24161:SF24,hmmpanther:PTHR24161																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	74920224	74920224	G	T	1	0	0	0	0	0	0	0	1	17569	1335	47	2		2	USH1G	17	74920224	Silent	SNP	G	C3N-00580_TP	83547	74920224	8337217	880	20340											
MGAT5B	0	.	GRCh38	chr17	76882230	76882230	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgaagcgcatggacgcActggccaggctggagaacag	11	5	16	9	2	0	2	0	1	0	1	0	4	0	3	1	5	2	3	1	5	2	0	rs369390750		C3N-00580_TP	C3N-00580_NB	A	A																c.294A>T	p.=	p.A98A	ENST00000428789	2/16	280	240	40	268	268	0	strelka-varscan-mutect	MGAT5B,synonymous_variant,p.=,ENST00000569840,NM_001199172.1;MGAT5B,synonymous_variant,p.=,ENST00000301618,NM_144677.2;MGAT5B,synonymous_variant,p.=,ENST00000428789,NM_198955.1;MGAT5B,synonymous_variant,p.=,ENST00000565675,;MGAT5B,non_coding_transcript_exon_variant,,ENST00000374998,;MGAT5B,synonymous_variant,p.=,ENST00000565043,;	T	ENST00000428789	Transcript	synonymous_variant	397/4053	294/2406	98/801	A	gcA/gcT	rs369390750	1		1	MGAT5B	HGNC	HGNC:24140	protein_coding	YES	CCDS45788.1	ENSP00000391227	Q3V5L5		UPI0000231C88	NM_198955.1			2/16		hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF6																	LOW	1	SNV	1			1										PASS		rs369390750	.												T	2	4	62	76882230	76882230	A	T	1	0	0	0	0	0	0	0	1	9510	146	6	4		4	MGAT5B	17	76882230	Silent	SNP	A	C3N-00580_TP	1962006	76882230	6375211	881	20341											
MGAT5B	0	.	GRCh38	chr17	76902612	76902612	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctattgcccagaacgtctcCgacatcgctgtgaaggtgga	9	9	12	11	3	1	2	0	1	1	1	3	4	1	3	2	2	2	2	2	2	3	2	rs750114361		C3N-00580_TP	C3N-00580_NB	C	C																c.420C>A	p.=	p.S140S	ENST00000428789	3/16	299	196	103	314	314	0	strelka-varscan-mutect	MGAT5B,synonymous_variant,p.=,ENST00000569840,NM_001199172.1;MGAT5B,synonymous_variant,p.=,ENST00000301618,NM_144677.2;MGAT5B,synonymous_variant,p.=,ENST00000428789,NM_198955.1;MGAT5B,non_coding_transcript_exon_variant,,ENST00000374998,;MGAT5B,synonymous_variant,p.=,ENST00000565043,;	A	ENST00000428789	Transcript	synonymous_variant	523/4053	420/2406	140/801	S	tcC/tcA	rs750114361	1		1	MGAT5B	HGNC	HGNC:24140	protein_coding	YES	CCDS45788.1	ENSP00000391227	Q3V5L5		UPI0000231C88	NM_198955.1			3/16		hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF6																	LOW	1	SNV	1			1										PASS		rs750114361	.												A	2	1	62	76902612	76902612	C	A	1	0	0	0	0	0	0	0	1	9510	639	23	1		1	MGAT5B	17	76902612	Silent	SNP	C	C3N-00580_TP	20382	76902612	6354829	882	20342											
DNAH17	0	.	GRCh38	chr17	78496008	78496008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaatgcttttttcttggcccGaattgcatcctggacacatt	8	15	8	10	1	1	0	0	0	1	0	2	3	2	1	2	2	2	2	2	2	2	6	rs768967388		C3N-00580_TP	C3N-00580_NB	G	G																c.5770C>G	p.Arg1924Gly	p.R1924G	ENST00000389840	38/81	174	113	61	153	153	0	strelka-varscan-mutect	DNAH17,missense_variant,p.Arg1924Gly,ENST00000389840,NM_173628.3;DNAH17,missense_variant,p.Arg1919Gly,ENST00000585328,;DNAH17-AS1,intron_variant,,ENST00000591373,;DNAH17,upstream_gene_variant,,ENST00000586052,;DNAH17-AS1,upstream_gene_variant,,ENST00000598378,;	C	ENST00000389840	Transcript	missense_variant	5895/13723	5770/13389	1924/4462	R/G	Cgg/Ggg	rs768967388,COSM264577,COSM3522931	1		-1	DNAH17	HGNC	HGNC:2946	protein_coding	YES		ENSP00000374490	Q9UFH2		UPI0001B25601	NM_173628.3	deleterious(0)		38/81		Gene3D:3.40.50.300,Pfam_domain:PF12774,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF284,Superfamily_domains:SSF52540											0,1,1						MODERATE		SNV	5		0,1,1	1										PASS		rs768967388	.												C	3	2	62	78496008	78496008	G	C	1	0	0	0	0	1	0	0	0	4416	1057	37	4		4	DNAH17	17	78496008	Missense_Mutation	SNP	G	C3N-00580_TP	1593396	78496008	4761433	883	20343											
LGALS3BP	0	.	GRCh38	chr17	78972001	78972001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggggcttggaagtaatCagaagaatatttgaccaaag	16	8	13	4	0	1	4	1	1	0	3	1	5	1	5	1	3	0	2	1	3	6	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1333G>T	p.Asp445Tyr	p.D445Y	ENST00000262776	6/6	305	244	61	246	245	1	strelka-varscan-mutect	LGALS3BP,missense_variant,p.Asp445Tyr,ENST00000262776,NM_005567.3;LGALS3BP,3_prime_UTR_variant,,ENST00000591778,;LGALS3BP,downstream_gene_variant,,ENST00000585407,;LGALS3BP,downstream_gene_variant,,ENST00000589775,;LGALS3BP,downstream_gene_variant,,ENST00000589527,;LGALS3BP,downstream_gene_variant,,ENST00000589906,;LGALS3BP,downstream_gene_variant,,ENST00000591274,;LGALS3BP,3_prime_UTR_variant,,ENST00000587251,;LGALS3BP,3_prime_UTR_variant,,ENST00000587311,;LGALS3BP,3_prime_UTR_variant,,ENST00000586720,;LGALS3BP,downstream_gene_variant,,ENST00000588198,;LGALS3BP,downstream_gene_variant,,ENST00000588587,;LGALS3BP,downstream_gene_variant,,ENST00000588508,;LGALS3BP,downstream_gene_variant,,ENST00000587310,;LGALS3BP,downstream_gene_variant,,ENST00000588899,;LGALS3BP,downstream_gene_variant,,ENST00000588990,;LGALS3BP,downstream_gene_variant,,ENST00000588205,;LGALS3BP,downstream_gene_variant,,ENST00000592255,;LGALS3BP,downstream_gene_variant,,ENST00000586300,;	A	ENST00000262776	Transcript	missense_variant	1642/2405	1333/1758	445/585	D/Y	Gat/Tat		1		-1	LGALS3BP	HGNC	HGNC:6564	protein_coding	YES	CCDS11759.1	ENSP00000262776	Q08380	A0A0S2Z3Y1	UPI000006E64A	NM_005567.3	tolerated(0.06)		6/6		hmmpanther:PTHR24410,hmmpanther:PTHR24410:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	78972001	78972001	C	A	1	0	0	0	0	1	0	0	0	8652	826	29	2		2	LGALS3BP	17	78972001	Missense_Mutation	SNP	C	C3N-00580_TP	475993	78972001	4285440	884	20344											
OGFOD3	0	.	GRCh38	chr17	82415559	82415559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacaaagccagcccccaggCccgcggtccttagccacggc	8	3	11	19	3	0	0	0	0	0	0	1	0	1	0	6	3	3	1	6	3	2	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.143G>A	p.Gly48Asp	p.G48D	ENST00000329197	2/10	476	381	95	402	402	0	strelka-varscan-mutect	OGFOD3,missense_variant,p.Gly48Asp,ENST00000313056,NM_024648.2;OGFOD3,missense_variant,p.Gly48Asp,ENST00000329197,NM_175902.4;OGFOD3,5_prime_UTR_variant,,ENST00000577495,;HEXDC,upstream_gene_variant,,ENST00000337014,NM_173620.2;HEXDC,upstream_gene_variant,,ENST00000577944,;HEXDC,upstream_gene_variant,,ENST00000327949,;OGFOD3,upstream_gene_variant,,ENST00000583897,;HEXDC,upstream_gene_variant,,ENST00000580235,;Y_RNA,upstream_gene_variant,,ENST00000364369,;OGFOD3,non_coding_transcript_exon_variant,,ENST00000577606,;OGFOD3,missense_variant,p.Gly48Asp,ENST00000580445,;HEXDC,upstream_gene_variant,,ENST00000582315,;OGFOD3,upstream_gene_variant,,ENST00000579407,;HEXDC,upstream_gene_variant,,ENST00000583978,;HEXDC,upstream_gene_variant,,ENST00000581482,;	T	ENST00000329197	Transcript	missense_variant	234/1652	143/996	48/331	G/D	gGc/gAc		1		-1	OGFOD3	HGNC	HGNC:26174	protein_coding	YES	CCDS11812.1	ENSP00000330075	Q6PK18		UPI00001AF029	NM_175902.4	tolerated(0.21)		2/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR14650,hmmpanther:PTHR14650:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	82415559	82415559	C	T	1	0	0	0	0	1	0	0	0	10917	739	26	3		3	OGFOD3	17	82415559	Missense_Mutation	SNP	C	C3N-00580_TP	3443558	82415559	841882	885	20345											
EMILIN2	0	.	GRCh38	chr18	2892234	2892234	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagggaggtctccatggtgGagggcagggtgtctcatatg	8	9	18	6	0	2	1	1	0	2	1	4	3	2	3	1	6	0	1	1	6	1	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2107G>T	p.Glu703Ter	p.E703*	ENST00000254528	4/8	105	75	30	70	70	0	strelka-varscan-mutect	EMILIN2,stop_gained,p.Glu703Ter,ENST00000254528,NM_032048.2;	T	ENST00000254528	Transcript	stop_gained	2266/5910	2107/3162	703/1053	E/*	Gag/Tag		1		1	EMILIN2	HGNC	HGNC:19881	protein_coding	YES	CCDS11828.1	ENSP00000254528	Q9BXX0		UPI000013CE3E	NM_032048.2			4/8		hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF5																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	62	2892234	2892234	G	T	1	0	0	0	0	0	1	0	0	4937	1175	41	2		2	EMILIN2	18	2892234	Nonsense_Mutation	SNP	G	C3N-00580_TP		2892234	77481051	886	20346											
MYL12A	0	.	GRCh38	chr18	3254035	3254035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgcctttgcttgctttGatgaagaagcaactggtaag	12	12	11	6	0	0	3	0	2	0	1	0	4	0	3	1	1	5	4	1	1	5	4			C3N-00580_TP	C3N-00580_NB	G	G																c.346G>T	p.Asp116Tyr	p.D116Y	ENST00000580887	3/4	211	135	76	365	365	0	strelka-varscan-mutect	MYL12A,missense_variant,p.Asp110Tyr,ENST00000217652,NM_006471.3;MYL12A,missense_variant,p.Asp110Tyr,ENST00000578611,NM_001303047.1;MYL12A,missense_variant,p.Asp110Tyr,ENST00000579226,NM_001303048.1;MYL12A,missense_variant,p.Asp110Tyr,ENST00000536605,;MYL12A,missense_variant,p.Asp116Tyr,ENST00000580887,NM_001303049.1;MYL12A,missense_variant,p.Asp110Tyr,ENST00000578562,;MYL12A,downstream_gene_variant,,ENST00000583449,;RP13-270P17.1,downstream_gene_variant,,ENST00000578800,;RP13-270P17.1,downstream_gene_variant,,ENST00000581905,;MYL12A,downstream_gene_variant,,ENST00000585090,;MYL12A,upstream_gene_variant,,ENST00000578038,;MYL12A,downstream_gene_variant,,ENST00000577510,;MYL12A,downstream_gene_variant,,ENST00000580353,;	T	ENST00000580887	Transcript	missense_variant	394/899	346/534	116/177	D/Y	Gat/Tat	COSM438086	1		1	MYL12A	HGNC	HGNC:16701	protein_coding	YES	CCDS77145.1	ENSP00000464359		J3QRS3	UPI0000374C94	NM_001303049.1	deleterious(0)		3/4		PROSITE_profiles:PS50222,hmmpanther:PTHR23049,Pfam_domain:PF08976,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	62	3254035	3254035	G	T	1	0	0	0	0	1	0	0	0	10045	1290	45	2		2	MYL12A	18	3254035	Missense_Mutation	SNP	G	C3N-00580_TP	361801	3254035	77119250	887	20347											
DLGAP1	0	.	GRCh38	chr18	3502623	3502623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgccaaatcctgggaggtgGgtcttggatgagcattagga	9	9	15	8	1	1	1	0	1	1	0	2	4	2	4	3	5	1	1	3	5	2	2			C3N-00580_TP	C3N-00580_NB	G	G																c.2594C>T	p.Pro865Leu	p.P865L	ENST00000315677	12/13	173	106	67	147	147	0	strelka-varscan-mutect	DLGAP1,missense_variant,p.Pro865Leu,ENST00000315677,NM_004746.3;DLGAP1,missense_variant,p.Pro581Leu,ENST00000400150,NM_001308390.1;DLGAP1,missense_variant,p.Pro587Leu,ENST00000515196,NM_001242763.1;DLGAP1,missense_variant,p.Pro563Leu,ENST00000400147,NM_001003809.2;DLGAP1,missense_variant,p.Pro571Leu,ENST00000400155,NM_001242764.1;DLGAP1,missense_variant,p.Pro555Leu,ENST00000400149,;DLGAP1,missense_variant,p.Pro865Leu,ENST00000581527,NM_001242761.1;DLGAP1,missense_variant,p.Pro573Leu,ENST00000539435,NM_001242766.1;DLGAP1,missense_variant,p.Pro549Leu,ENST00000534970,NM_001242762.1;DLGAP1,missense_variant,p.Pro571Leu,ENST00000581699,;DLGAP1,missense_variant,p.Pro563Leu,ENST00000400145,NM_001242765.1;	A	ENST00000315677	Transcript	missense_variant	3190/6683	2594/2934	865/977	P/L	cCc/cTc	COSM269027,COSM5107189,COSM5107190,COSM5107191,COSM5107192	1		-1	DLGAP1	HGNC	HGNC:2905	protein_coding	YES	CCDS11836.1	ENSP00000316377	O14490		UPI0000129490	NM_004746.3	deleterious(0.01)		12/13		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF7,Pfam_domain:PF03359											1,1,1,1,1						MODERATE	1	SNV	5		1,1,1,1,1	1										PASS		rs1443191460	.												A	3	1	62	3502623	3502623	G	A	1	0	0	0	0	1	0	0	0	4366	1232	43	3		3	DLGAP1	18	3502623	Missense_Mutation	SNP	G	C3N-00580_TP	248588	3502623	76870662	888	20348											
EPB41L3	0	.	GRCh38	chr18	5397238	5397238	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctttccctttaatgccTgtgaatgcgggctgtgctgc	4	14	10	13	1	1	1	0	1	1	0	2	1	2	1	3	1	4	2	3	1	2	3	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.2661A>T	p.=	p.T887T	ENST00000341928	18/23	273	169	104	312	312	0	strelka-varscan-mutect	EPB41L3,synonymous_variant,p.=,ENST00000341928,NM_012307.3;EPB41L3,synonymous_variant,p.=,ENST00000342933,;EPB41L3,synonymous_variant,p.=,ENST00000400111,;EPB41L3,synonymous_variant,p.=,ENST00000544123,NM_001281533.1;EPB41L3,synonymous_variant,p.=,ENST00000540638,NM_001281534.1;EPB41L3,synonymous_variant,p.=,ENST00000545076,NM_001281535.1;EPB41L3,synonymous_variant,p.=,ENST00000578524,;EPB41L3,synonymous_variant,p.=,ENST00000581292,;EPB41L3,upstream_gene_variant,,ENST00000579951,;EPB41L3,downstream_gene_variant,,ENST00000579271,;EPB41L3,downstream_gene_variant,,ENST00000581387,;EPB41L3,downstream_gene_variant,,ENST00000580647,;EPB41L3,downstream_gene_variant,,ENST00000580316,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,downstream_gene_variant,,ENST00000582729,;EPB41L3,3_prime_UTR_variant,,ENST00000637651,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578618,;EPB41L3,downstream_gene_variant,,ENST00000584055,;EPB41L3,downstream_gene_variant,,ENST00000578196,;	A	ENST00000341928	Transcript	synonymous_variant	3002/4706	2661/3264	887/1087	T	acA/acT		1		-1	EPB41L3	HGNC	HGNC:3380	protein_coding	YES	CCDS11838.1	ENSP00000343158	Q9Y2J2		UPI0000129AFA	NM_012307.3			18/23																			LOW	1	SNV	1			1										PASS		rs1400765944	.												A	2	1	62	5397238	5397238	T	A	1	0	0	0	0	0	0	0	1	5001	1567	55	4		4	EPB41L3	18	5397238	Silent	SNP	T	C3N-00580_TP	1894615	5397238	74976047	889	20349											
LAMA1	0	.	GRCh38	chr18	7023222	7023222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcagcacacctttcacaGtgggcgccatctgtgttccc	6	10	9	16	2	3	0	2	0	1	0	4	0	4	0	4	1	1	2	4	1	0	2			C3N-00580_TP	C3N-00580_NB	G	G																c.2643C>A	p.His881Gln	p.H881Q	ENST00000389658	19/63	514	368	146	427	427	0	strelka-varscan-mutect	LAMA1,missense_variant,p.His881Gln,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	T	ENST00000389658	Transcript	missense_variant	2737/9657	2643/9228	881/3075	H/Q	caC/caA	COSM1325585	1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	deleterious(0.01)		19/63		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	62	7023222	7023222	G	T	1	0	0	0	0	1	0	0	0	8509	1020	36	2		2	LAMA1	18	7023222	Missense_Mutation	SNP	G	C3N-00580_TP	1625984	7023222	73350063	890	20350											
LAMA1	0	.	GRCh38	chr18	7024434	7024434	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtcacagaccacttcaTctccatcattgaggtggcag	11	9	8	13	0	4	2	3	1	1	1	5	2	4	2	3	2	0	1	3	2	0	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.2435A>T	p.Asp812Val	p.D812V	ENST00000389658	18/63	392	279	113	368	368	0	strelka-varscan-mutect	LAMA1,missense_variant,p.Asp812Val,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	A	ENST00000389658	Transcript	missense_variant	2529/9657	2435/9228	812/3075	D/V	gAt/gTt		1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	tolerated(0.2)		18/63		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	62	7024434	7024434	T	A	1	0	0	0	0	1	0	0	0	8509	1435	50	4		4	LAMA1	18	7024434	Missense_Mutation	SNP	T	C3N-00580_TP	1212	7024434	73348851	891	20351											
TXNDC2	0	.	GRCh38	chr18	9887773	9887773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagccaccccatccaaggagGgtgacatcctaaagcctgaa	14	5	9	13	0	0	2	0	2	0	0	2	3	2	3	6	2	2	0	6	2	5	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1294G>T	p.Gly432Cys	p.G432C	ENST00000306084	2/2	160	108	52	160	160	0	strelka-varscan-mutect	TXNDC2,missense_variant,p.Gly365Cys,ENST00000357775,NM_032243.5;TXNDC2,missense_variant,p.Gly417Cys,ENST00000611534,;TXNDC2,missense_variant,p.Gly432Cys,ENST00000306084,NM_001098529.1;TXNDC2,3_prime_UTR_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,;	T	ENST00000306084	Transcript	missense_variant	1493/1873	1294/1662	432/553	G/C	Ggt/Tgt		1		1	TXNDC2	HGNC	HGNC:16470	protein_coding	YES	CCDS42414.1	ENSP00000304908	Q86VQ3	A0A140VJY8	UPI000013EAE7	NM_001098529.1	deleterious(0.02)		2/2		PROSITE_profiles:PS51352,hmmpanther:PTHR10438:SF107,hmmpanther:PTHR10438,Superfamily_domains:SSF52833																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	62	9887773	9887773	G	T	1	0	0	0	0	1	0	0	0	17313	1232	43	2		2	TXNDC2	18	9887773	Missense_Mutation	SNP	G	C3N-00580_TP	2863339	9887773	70485512	892	20352											
GNAL	0	.	GRCh38	chr18	11881082	11881082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccgcagggtgttcaacGactgccgcgacatcatccag	10	7	10	14	4	2	0	2	0	0	0	4	2	4	0	3	1	2	2	3	1	1	1	rs772266110		C3N-00580_TP	C3N-00580_NB	G	G																c.1324G>T	p.Asp442Tyr	p.D442Y	ENST00000334049	12/12	195	161	34	182	182	0	strelka-varscan-mutect	GNAL,missense_variant,p.Asp442Tyr,ENST00000334049,NM_182978.3;GNAL,missense_variant,p.Asp365Tyr,ENST00000423027,;GNAL,missense_variant,p.Asp365Tyr,ENST00000269162,NM_001142339.2;GNAL,missense_variant,p.Asp365Tyr,ENST00000535121,NM_001261443.1;GNAL,missense_variant,p.Asp158Tyr,ENST00000602628,NM_001261444.1;MPPE1,downstream_gene_variant,,ENST00000588072,NM_023075.5;MPPE1,downstream_gene_variant,,ENST00000317235,;MPPE1,downstream_gene_variant,,ENST00000344987,;MPPE1,downstream_gene_variant,,ENST00000309976,NM_001242904.1;MPPE1,downstream_gene_variant,,ENST00000592977,;MPPE1,downstream_gene_variant,,ENST00000587724,;MPPE1,downstream_gene_variant,,ENST00000592755,;MPPE1,downstream_gene_variant,,ENST00000592447,;MPPE1,downstream_gene_variant,,ENST00000496196,;MPPE1,downstream_gene_variant,,ENST00000317251,;MPPE1,downstream_gene_variant,,ENST00000592894,;MPPE1,downstream_gene_variant,,ENST00000592306,;	T	ENST00000334049	Transcript	missense_variant	1932/6535	1324/1377	442/458	D/Y	Gac/Tac	rs772266110	1		1	GNAL	HGNC	HGNC:4388	protein_coding	YES	CCDS11851.1	ENSP00000334051	P38405		UPI000017DF81	NM_182978.3	deleterious(0.02)		12/12		hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF233,Gene3D:3.40.50.300,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs772266110	.												T	3	4	62	11881082	11881082	G	T	1	0	0	0	0	1	0	0	0	6387	1058	37	1		1	GNAL	18	11881082	Missense_Mutation	SNP	G	C3N-00580_TP	1993309	11881082	68492203	893	20353											
ANKRD30B	0	.	GRCh38	chr18	14748554	14748554	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagggaagatccatacagcTgcctcccggggccaagtcca	10	6	11	14	1	0	1	0	0	0	1	3	2	3	2	5	3	3	1	5	3	4	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.135T>A	p.=	p.A45A	ENST00000358984	1/36	151	94	57	177	177	0	strelka-varscan-mutect	ANKRD30B,synonymous_variant,p.=,ENST00000358984,NM_001145029.1;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,synonymous_variant,p.=,ENST00000580206,;	A	ENST00000358984	Transcript	synonymous_variant	315/4359	135/4179	45/1392	A	gcT/gcA		1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1			1/36		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	14748554	14748554	T	A	1	0	0	0	0	0	0	0	1	762	1567	55	4		4	ANKRD30B	18	14748554	Silent	SNP	T	C3N-00580_TP	2867472	14748554	65624731	894	20354											
GATA6	0	.	GRCh38	chr18	22171709	22171709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccagctccccggtctacGtgcccaccacccgcgtgggt	4	6	12	19	5	1	0	0	0	1	0	2	0	2	0	6	3	3	1	6	3	1	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.565G>T	p.Val189Leu	p.V189L	ENST00000269216	2/7	120	89	31	270	270	0	strelka-varscan-mutect	GATA6,missense_variant,p.Val189Leu,ENST00000269216,NM_005257.5;GATA6,missense_variant,p.Val189Leu,ENST00000581694,;GATA6-AS1,upstream_gene_variant,,ENST00000583490,;GATA6-AS1,upstream_gene_variant,,ENST00000584373,;GATA6-AS1,upstream_gene_variant,,ENST00000579431,;GATA6-AS1,upstream_gene_variant,,ENST00000584201,;RP11-627G18.2,downstream_gene_variant,,ENST00000578504,;	T	ENST00000269216	Transcript	missense_variant	842/3770	565/1788	189/595	V/L	Gtg/Ttg		1		1	GATA6	HGNC	HGNC:4174	protein_coding	YES	CCDS11872.1	ENSP00000269216	Q92908		UPI0000201AC8	NM_005257.5	deleterious(0.02)		2/7		Pfam_domain:PF05349,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF23																	MODERATE	1	SNV	1			1										PASS		rs1295009208	.												T	3	4	62	22171709	22171709	G	T	1	0	0	0	0	1	0	0	0	6128	1145	40	1		1	GATA6	18	22171709	Missense_Mutation	SNP	G	C3N-00580_TP	7423155	22171709	58201576	895	20355											
LAMA3	0	.	GRCh38	chr18	23839827	23839827	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaactcctccaacagcAttaattttggatgttctaag	13	13	6	9	0	1	1	0	1	1	0	3	2	3	2	2	1	3	2	2	1	4	5			C3N-00580_TP	C3N-00580_NB	A	A																c.3234A>C	p.=	p.A1078A	ENST00000313654	27/75	949	615	334	797	795	2	strelka-varscan-mutect	LAMA3,synonymous_variant,p.=,ENST00000313654,NM_198129.2;LAMA3,synonymous_variant,p.=,ENST00000399516,NM_001127717.2;LAMA3,downstream_gene_variant,,ENST00000592519,;LAMA3,downstream_gene_variant,,ENST00000591749,;	C	ENST00000313654	Transcript	synonymous_variant	3475/10661	3234/10002	1078/3333	A	gcA/gcC	COSM4776026	1		1	LAMA3	HGNC	HGNC:6483	protein_coding	YES	CCDS42419.1	ENSP00000324532	Q16787		UPI000035154D	NM_198129.2			27/75													1						LOW	1	SNV	1		1	1										PASS		.	.												C	2	2	62	23839827	23839827	A	C	1	0	0	0	0	0	0	0	1	8511	204	8	5		5	LAMA3	18	23839827	Silent	SNP	A	C3N-00580_TP	1668118	23839827	56533458	896	20356											
LAMA3	0	.	GRCh38	chr18	23873213	23873213	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggagtttagacccagcCaggtaacgtccttttaagtt	10	13	10	8	1	0	1	0	0	0	1	1	2	1	2	3	2	2	3	3	2	3	6	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.169C>T	p.Gln57Ter	p.Q57*	ENST00000269217	1/38	738	591	147	694	694	0	strelka-varscan-mutect	LAMA3,stop_gained,p.Gln57Ter,ENST00000269217,NM_000227.4;LAMA3,stop_gained,p.Gln57Ter,ENST00000587184,NM_001127718.2;LAMA3,intron_variant,,ENST00000313654,NM_198129.2;LAMA3,intron_variant,,ENST00000399516,NM_001127717.2;	T	ENST00000269217	Transcript	stop_gained,splice_region_variant	374/5671	169/5175	57/1724	Q/*	Cag/Tag		1		1	LAMA3	HGNC	HGNC:6483	protein_coding		CCDS11880.1	ENSP00000269217		A0A0A6YYF2	UPI00000349C1	NM_000227.4			1/38		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF285																	HIGH		SNV	1			1										PASS		.	.												T	4	4	62	23873213	23873213	C	T	1	0	0	0	0	0	1	0	0	8511	608	21	3		3	LAMA3	18	23873213	Nonsense_Mutation	SNP	C	C3N-00580_TP	33386	23873213	56500072	897	20357											
IMPACT	0	.	GRCh38	chr18	24428021	24428021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattagcgacgatatagatGaccccaaatggacactttgc	14	9	9	9	2	0	2	0	1	0	1	0	6	0	3	2	1	2	0	2	1	5	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.139G>A	p.Asp47Asn	p.D47N	ENST00000284202	2/11	75	46	29	97	97	0	strelka-varscan-mutect	IMPACT,missense_variant,p.Asp47Asn,ENST00000284202,NM_018439.3;IMPACT,missense_variant,p.Asp29Asn,ENST00000585067,;IMPACT,missense_variant,p.Asp47Asn,ENST00000578221,;Y_RNA,upstream_gene_variant,,ENST00000362766,;IMPACT,non_coding_transcript_exon_variant,,ENST00000580706,;	A	ENST00000284202	Transcript	missense_variant	280/3792	139/963	47/320	D/N	Gac/Aac		1		1	IMPACT	HGNC	HGNC:20387	protein_coding	YES	CCDS11886.1	ENSP00000284202	Q9P2X3		UPI000007006B	NM_018439.3	tolerated(0.6)		2/11		Gene3D:3.10.110.10,Pfam_domain:PF05773,PROSITE_profiles:PS50908,hmmpanther:PTHR16301,hmmpanther:PTHR16301:SF6,SMART_domains:SM00591,Superfamily_domains:SSF54495																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	24428021	24428021	G	A	1	0	0	0	0	1	0	0	0	7626	1290	45	3		3	IMPACT	18	24428021	Missense_Mutation	SNP	G	C3N-00580_TP	554808	24428021	55945264	898	20358											
CDH2	0	.	GRCh38	chr18	27990218	27990218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggcaaaataagggttttCatttacgtcaataactgtaa	14	12	10	5	1	2	0	2	0	0	0	2	0	2	0	0	3	2	3	0	3	7	7	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1477G>A	p.Glu493Lys	p.E493K	ENST00000269141	10/16	446	349	97	353	352	1	strelka-varscan-mutect	CDH2,missense_variant,p.Glu493Lys,ENST00000269141,NM_001792.3;CDH2,missense_variant,p.Glu462Lys,ENST00000399380,NM_001308176.1;	T	ENST00000269141	Transcript	missense_variant	1901/4332	1477/2721	493/906	E/K	Gaa/Aaa		1		-1	CDH2	HGNC	HGNC:1759	protein_coding	YES	CCDS11891.1	ENSP00000269141	P19022	A0A024RC42	UPI000013D7FD	NM_001792.3	deleterious(0)		10/16		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF79,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	27990218	27990218	C	T	1	0	0	0	0	1	0	0	0	2808	835	29	3		3	CDH2	18	27990218	Missense_Mutation	SNP	C	C3N-00580_TP	3562197	27990218	52383067	899	20359											
DSG3	0	.	GRCh38	chr18	31460883	31460883	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgcagacaaagatggagaAggactatcaactcaatgtga	16	7	12	6	0	2	4	2	1	0	3	2	6	2	5	0	3	2	1	0	3	5	1	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.735A>G	p.=	p.E245E	ENST00000257189	7/16	131	91	40	222	222	0	strelka-varscan-mutect	DSG3,synonymous_variant,p.=,ENST00000257189,NM_001944.2;	G	ENST00000257189	Transcript	synonymous_variant	818/5525	735/3000	245/999	E	gaA/gaG		1		1	DSG3	HGNC	HGNC:3050	protein_coding	YES	CCDS11898.1	ENSP00000257189	P32926		UPI000013CF4B	NM_001944.2			7/16		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF3,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	62	31460883	31460883	A	G	1	0	0	0	0	0	0	0	1	4599	69	3	5		5	DSG3	18	31460883	Silent	SNP	A	C3N-00580_TP	3470665	31460883	48912402	900	20360											
B4GALT6	0	.	GRCh38	chr18	31626347	31626347	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtattttcctaagtctcCctctggtctggttacattat	6	19	6	10	0	3	0	0	0	3	0	5	0	4	0	2	2	1	2	2	2	4	7	rs779649111		C3N-00580_TP	C3N-00580_NB	C	C																c.937G>T	p.Gly313Ter	p.G313*	ENST00000306851	8/9	139	123	16	132	131	1	strelka-varscan-mutect	B4GALT6,stop_gained,p.Gly313Ter,ENST00000306851,NM_004775.3;B4GALT6,stop_gained,p.Gly274Ter,ENST00000237019,;B4GALT6,stop_gained,p.Gly274Ter,ENST00000383131,;B4GALT6,non_coding_transcript_exon_variant,,ENST00000578114,;	A	ENST00000306851	Transcript	stop_gained	1234/3891	937/1149	313/382	G/*	Gga/Tga	rs779649111	1		-1	B4GALT6	HGNC	HGNC:929	protein_coding	YES	CCDS11900.1	ENSP00000306459	Q9UBX8		UPI0000126721	NM_004775.3			8/9		hmmpanther:PTHR19300,hmmpanther:PTHR19300:SF47,Pfam_domain:PF02709,Gene3D:3.90.550.10,Superfamily_domains:SSF53448																	HIGH	1	SNV	1			1										PASS		rs779649111	.												A	4	1	62	31626347	31626347	C	A	1	0	0	0	0	0	1	0	0	1431	632	22	2		2	B4GALT6	18	31626347	Nonsense_Mutation	SNP	C	C3N-00580_TP	165464	31626347	48746938	901	20361											
B4GALT6	0	.	GRCh38	chr18	31645375	31645375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccatctgggtttacagtCttttggcctccaatgacccc	6	14	7	14	0	2	1	0	1	2	0	4	1	4	1	5	2	1	1	5	2	2	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.451G>T	p.Asp151Tyr	p.D151Y	ENST00000306851	4/9	231	151	80	320	320	0	strelka-varscan-mutect	B4GALT6,missense_variant,p.Asp151Tyr,ENST00000306851,NM_004775.3;B4GALT6,missense_variant,p.Asp112Tyr,ENST00000237019,;B4GALT6,missense_variant,p.Asp151Tyr,ENST00000383131,;B4GALT6,intron_variant,,ENST00000578114,;	A	ENST00000306851	Transcript	missense_variant	748/3891	451/1149	151/382	D/Y	Gac/Tac		1		-1	B4GALT6	HGNC	HGNC:929	protein_coding	YES	CCDS11900.1	ENSP00000306459	Q9UBX8		UPI0000126721	NM_004775.3	deleterious(0)		4/9		hmmpanther:PTHR19300,hmmpanther:PTHR19300:SF47,Pfam_domain:PF13733,Gene3D:3.90.550.10,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	31645375	31645375	C	A	1	0	0	0	0	1	0	0	0	1431	913	32	2		2	B4GALT6	18	31645375	Missense_Mutation	SNP	C	C3N-00580_TP	19028	31645375	48727910	902	20362											
ASXL3	0	.	GRCh38	chr18	33743137	33743137	+	Nonsense_Mutation	SNP	A	A	T																															caggagagggtggaaagacgAgaactctggcacacatcaaa																								novel		C3N-00580_TP	C3N-00580_NB	A	A																c.3289A>T	p.Arg1097Ter	p.R1097*	ENST00000269197	12/12	141	108	33	135	135	0	strelka-varscan-mutect	ASXL3,stop_gained,p.Arg1097Ter,ENST00000269197,NM_030632.1;ASXL3,3_prime_UTR_variant,,ENST00000592288,;	T	ENST00000269197	Transcript	stop_gained	3344/11399	3289/6747	1097/2248	R/*	Aga/Tga		1		1	ASXL3	HGNC	HGNC:29357	protein_coding	YES	CCDS45847.1	ENSP00000269197	Q9C0F0		UPI000156D0F3	NM_030632.1			12/12		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	62	33743137	33743137	A	T	1	0	0	0	0	0	1	0	0	1216	296	11	4		4	ASXL3	18	33743137	Nonsense_Mutation	SNP	A	C3N-00580_TP	2097762	33743137	46630148	903	20363	431	2									
ASXL3	0	.	GRCh38	chr18	33743138	33743138	+	Missense_Mutation	SNP	G	G	T																															aggagagggtggaaagacgaGaactctggcacacatcaaag																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.3290G>T	p.Arg1097Ile	p.R1097I	ENST00000269197	12/12	144	112	32	138	138	0	strelka-varscan-mutect	ASXL3,missense_variant,p.Arg1097Ile,ENST00000269197,NM_030632.1;ASXL3,3_prime_UTR_variant,,ENST00000592288,;	T	ENST00000269197	Transcript	missense_variant	3345/11399	3290/6747	1097/2248	R/I	aGa/aTa		1		1	ASXL3	HGNC	HGNC:29357	protein_coding	YES	CCDS45847.1	ENSP00000269197	Q9C0F0		UPI000156D0F3	NM_030632.1	deleterious_low_confidence(0)		12/12		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	33743138	33743138	G	T	1	0	0	0	0	1	0	0	0	1216	942	33	2		2	ASXL3	18	33743138	Missense_Mutation	SNP	G	C3N-00580_TP	1	33743138	46630147	904	20364	431	2									
ASXL3	0	.	GRCh38	chr18	33744665	33744665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtataacccaagtaaccGgatttgctggaatgatgatg	13	11	10	7	1	1	2	1	2	0	0	1	4	1	4	2	2	3	3	2	2	5	4	rs116363417		C3N-00580_TP	C3N-00580_NB	G	G																c.4817G>T	p.Arg1606Leu	p.R1606L	ENST00000269197	12/12	306	213	93	263	263	0	strelka-varscan-mutect	ASXL3,missense_variant,p.Arg1606Leu,ENST00000269197,NM_030632.1;ASXL3,downstream_gene_variant,,ENST00000592288,;	T	ENST00000269197	Transcript	missense_variant	4872/11399	4817/6747	1606/2248	R/L	cGg/cTg	rs116363417	1		1	ASXL3	HGNC	HGNC:29357	protein_coding	YES	CCDS45847.1	ENSP00000269197	Q9C0F0		UPI000156D0F3	NM_030632.1	tolerated_low_confidence(0.05)		12/12																			MODERATE	1	SNV	5			1										PASS		rs116363417	.												T	3	4	62	33744665	33744665	G	T	1	0	0	0	0	1	0	0	0	1216	1116	39	1		1	ASXL3	18	33744665	Missense_Mutation	SNP	G	C3N-00580_TP	1527	33744665	46628620	905	20365											
DTNA	0	.	GRCh38	chr18	34794177	34794177	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accagctcaacaaacggatgCcaaccactcaccaaatccat	16	5	4	16	1	2	0	2	0	0	0	3	1	3	1	5	1	5	1	5	1	4	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.289C>A	p.Pro97Thr	p.P97T	ENST00000598334	5/20	506	329	177	385	384	1	strelka-varscan-mutect	DTNA,missense_variant,p.Pro97Thr,ENST00000283365,NM_032975.3;DTNA,missense_variant,p.Pro97Thr,ENST00000399121,NM_001198939.1;DTNA,missense_variant,p.Pro97Thr,ENST00000444659,NM_001390.4;DTNA,missense_variant,p.Pro97Thr,ENST00000595022,NM_001198940.1;DTNA,missense_variant,p.Pro97Thr,ENST00000348997,NM_032978.6,NM_001391.5;DTNA,missense_variant,p.Pro97Thr,ENST00000598334,NM_001198938.1;DTNA,missense_variant,p.Pro97Thr,ENST00000598142,;DTNA,missense_variant,p.Pro97Thr,ENST00000598774,NM_032979.4;DTNA,missense_variant,p.Pro97Thr,ENST00000399113,;DTNA,missense_variant,p.Pro97Thr,ENST00000597599,NM_001198941.1;DTNA,missense_variant,p.Pro97Thr,ENST00000315456,NM_001392.4;DTNA,missense_variant,p.Pro97Thr,ENST00000554864,NM_001128175.1;DTNA,missense_variant,p.Pro97Thr,ENST00000596745,NM_001198945.1;DTNA,missense_variant,p.Pro97Thr,ENST00000590598,;DTNA,missense_variant,p.Pro97Thr,ENST00000590412,;DTNA,missense_variant,p.Pro99Thr,ENST00000588949,;DTNA,non_coding_transcript_exon_variant,,ENST00000585446,;	A	ENST00000598334	Transcript	missense_variant	615/3201	289/2175	97/724	P/T	Cca/Aca		1		1	DTNA	HGNC	HGNC:3057	protein_coding	YES	CCDS59312.1	ENSP00000470152	Q9Y4J8		UPI0001E92A2F	NM_001198938.1	deleterious(0)		5/20		hmmpanther:PTHR11915:SF209,hmmpanther:PTHR11915,PIRSF_domain:PIRSF038204,Pfam_domain:PF09068,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	34794177	34794177	C	A	1	0	0	0	0	1	0	0	0	4611	739	26	2		2	DTNA	18	34794177	Missense_Mutation	SNP	C	C3N-00580_TP	1049512	34794177	45579108	906	20366											
MAPRE2	0	.	GRCh38	chr18	35097572	35097572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttctgcaagcatcatttaAgcgaatgaacgttgataagg	14	11	9	7	2	2	2	1	2	1	0	2	3	2	2	0	1	4	3	0	1	5	5	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.377A>G	p.Lys126Arg	p.K126R	ENST00000300249	3/7	70	64	6	75	75	0	strelka-mutect	MAPRE2,missense_variant,p.Lys114Arg,ENST00000436190,NM_001143827.2;MAPRE2,missense_variant,p.Lys126Arg,ENST00000300249,NM_014268.3;MAPRE2,missense_variant,p.Lys83Arg,ENST00000413393,NM_001143826.2;MAPRE2,missense_variant,p.Lys73Arg,ENST00000538170,NM_001256420.1;MAPRE2,missense_variant,p.Lys83Arg,ENST00000589699,;MAPRE2,missense_variant,p.Lys126Arg,ENST00000588910,;MAPRE2,missense_variant,p.Lys83Arg,ENST00000591734,;MAPRE2,missense_variant,p.Lys32Arg,ENST00000589180,;MAPRE2,missense_variant,p.Lys83Arg,ENST00000588349,;MAPRE2,downstream_gene_variant,,ENST00000587359,;	G	ENST00000300249	Transcript	missense_variant	557/4265	377/984	126/327	K/R	aAg/aGg		1		1	MAPRE2	HGNC	HGNC:6891	protein_coding	YES	CCDS11910.1	ENSP00000300249	Q15555	A0A024RC33	UPI0000072407	NM_014268.3	deleterious(0.02)		3/7		PROSITE_profiles:PS50021,hmmpanther:PTHR10623:SF7,hmmpanther:PTHR10623,Gene3D:1.10.418.10,Pfam_domain:PF00307,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	35097572	35097572	A	G	1	0	0	0	0	1	0	0	0	9218	72	3	5		5	MAPRE2	18	35097572	Missense_Mutation	SNP	A	C3N-00580_TP	303395	35097572	45275713	907	20367											
SYT4	0	.	GRCh38	chr18	43273831	43273831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactttatgcttcttctctgGgaggatcgtcattttgatat	7	18	8	8	1	3	1	1	1	2	0	5	3	3	3	0	2	1	1	0	2	2	7			C3N-00580_TP	C3N-00580_NB	G	G																c.598C>A	p.Pro200Thr	p.P200T	ENST00000255224	2/4	251	209	42	302	302	0	strelka-varscan-mutect	SYT4,missense_variant,p.Pro200Thr,ENST00000255224,NM_020783.3;SYT4,missense_variant,p.Pro182Thr,ENST00000590752,;SYT4,intron_variant,,ENST00000596867,;SYT4,intron_variant,,ENST00000593720,;SYT4,intron_variant,,ENST00000586678,;SYT4,intron_variant,,ENST00000585604,;SYT4,upstream_gene_variant,,ENST00000589479,;SYT4,downstream_gene_variant,,ENST00000591820,;	T	ENST00000255224	Transcript	missense_variant	967/4110	598/1278	200/425	P/T	Cca/Aca	COSM1711233,COSM1711234	1		-1	SYT4	HGNC	HGNC:11512	protein_coding	YES	CCDS11922.1	ENSP00000255224	Q9H2B2		UPI000013669E	NM_020783.3	deleterious(0)		2/4		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF114,SMART_domains:SM00239,Superfamily_domains:SSF49562											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	62	43273831	43273831	G	T	1	0	0	0	0	1	0	0	0	15870	1232	43	2		2	SYT4	18	43273831	Missense_Mutation	SNP	G	C3N-00580_TP	8176259	43273831	37099454	908	20368											
LOXHD1	0	.	GRCh38	chr18	46566305	46566305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacagctccacctccaggcGcccgtcagcctggttcttgt	6	10	9	16	2	2	0	1	0	1	0	4	0	4	0	5	2	3	2	5	2	1	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2389C>T	p.Arg797Cys	p.R797C	ENST00000536736	17/40	147	127	20	130	130	0	strelka-varscan-mutect	LOXHD1,missense_variant,p.Arg797Cys,ENST00000536736,NM_144612.6;LOXHD1,missense_variant,p.Arg797Cys,ENST00000441551,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;	A	ENST00000536736	Transcript	missense_variant	2389/6848	2389/6636	797/2211	R/C	Cgc/Tgc		1		-1	LOXHD1	HGNC	HGNC:26521	protein_coding			ENSP00000444586		F5GZB4	UPI0001A595CE	NM_144612.6	deleterious(0.04)		17/40		Gene3D:2.60.60.20,PROSITE_profiles:PS50095,SMART_domains:SM00308,Superfamily_domains:SSF49723																	MODERATE		SNV	5			1										PASS		rs920654744	.												A	3	1	62	46566305	46566305	G	A	1	0	0	0	0	1	0	0	0	8801	1087	38	1		1	LOXHD1	18	46566305	Missense_Mutation	SNP	G	C3N-00580_TP	3292474	46566305	33806980	909	20369											
TXNL1	0	.	GRCh38	chr18	56624402	56624402	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatattgatcaattctcacTttgtttcgaaaaaacaaaaa	17	14	4	6	1	2	2	2	2	1	0	4	3	2	2	0	0	1	1	0	0	7	5	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.255A>G	p.=	p.K85K	ENST00000217515	3/8	127	97	30	149	149	0	strelka-varscan-mutect	TXNL1,synonymous_variant,p.=,ENST00000217515,NM_004786.2;TXNL1,synonymous_variant,p.=,ENST00000586262,;TXNL1,synonymous_variant,p.=,ENST00000590954,;TXNL1,synonymous_variant,p.=,ENST00000587613,;TXNL1,3_prime_UTR_variant,,ENST00000587807,;	C	ENST00000217515	Transcript	synonymous_variant	460/6894	255/870	85/289	K	aaA/aaG		1		-1	TXNL1	HGNC	HGNC:12436	protein_coding	YES	CCDS11961.1	ENSP00000217515	O43396	V9HW51	UPI0000137838	NM_004786.2			3/8		hmmpanther:PTHR10438,hmmpanther:PTHR10438:SF284,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	62	56624402	56624402	T	C	1	0	0	0	0	0	0	0	1	17318	1606	56	5		5	TXNL1	18	56624402	Silent	SNP	T	C3N-00580_TP	10058097	56624402	23748883	910	20370											
WDR7	0	.	GRCh38	chr18	56757234	56757234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtaggaaagggaacttacGgagtgtcccgtgccgtcacc	10	7	14	10	3	1	0	1	0	0	0	2	4	2	3	3	3	3	1	3	3	4	2	rs368372292		C3N-00580_TP	C3N-00580_NB	G	G																c.2641G>C	p.Gly881Arg	p.G881R	ENST00000254442	15/28	246	196	50	267	267	0	strelka-varscan-mutect	WDR7,missense_variant,p.Gly881Arg,ENST00000254442,NM_015285.2;WDR7,missense_variant,p.Gly881Arg,ENST00000357574,NM_052834.2;WDR7,missense_variant,p.Gly206Arg,ENST00000615645,;WDR7,intron_variant,,ENST00000589935,;Y_RNA,upstream_gene_variant,,ENST00000384138,;WDR7,non_coding_transcript_exon_variant,,ENST00000585824,;WDR7,downstream_gene_variant,,ENST00000590557,;WDR7,downstream_gene_variant,,ENST00000587403,;WDR7,upstream_gene_variant,,ENST00000591524,;	C	ENST00000254442	Transcript	missense_variant	2852/14083	2641/4473	881/1490	G/R	Gga/Cga	rs368372292	1		1	WDR7	HGNC	HGNC:13490	protein_coding	YES	CCDS11962.1	ENSP00000254442	Q9Y4E6		UPI000013CE33	NM_015285.2	tolerated(0.27)		15/28																			MODERATE	1	SNV	1			1										PASS		rs368372292	.												C	3	2	62	56757234	56757234	G	C	1	0	0	0	0	1	0	0	0	17876	1117	39	4		4	WDR7	18	56757234	Missense_Mutation	SNP	G	C3N-00580_TP	132832	56757234	23616051	911	20371											
ALPK2	0	.	GRCh38	chr18	58529200	58529200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacatttccagagtgttcagGgaacatctcagcttggatct	10	13	9	9	0	3	1	2	0	2	1	5	3	4	3	1	2	3	2	1	2	2	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.5392C>A	p.Pro1798Thr	p.P1798T	ENST00000361673	6/13	164	119	45	221	221	0	strelka-varscan-mutect	ALPK2,missense_variant,p.Pro1798Thr,ENST00000361673,NM_052947.3;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;	T	ENST00000361673	Transcript	missense_variant	5606/7303	5392/6513	1798/2170	P/T	Cct/Act		1		-1	ALPK2	HGNC	HGNC:20565	protein_coding	YES	CCDS11966.2	ENSP00000354991	Q86TB3		UPI000022A768	NM_052947.3	deleterious(0)		6/13		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6,SMART_domains:SM00409																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	58529200	58529200	G	T	1	0	0	0	0	1	0	0	0	645	1232	43	2		2	ALPK2	18	58529200	Missense_Mutation	SNP	G	C3N-00580_TP	1771966	58529200	21844085	912	20372											
TUBB4A	0	.	GRCh38	chr19	6496214	6496214	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccagttgttgccggctccGgattggcctagagagggaag	7	8	16	10	2	0	1	0	0	0	1	1	4	1	3	4	4	1	3	4	4	2	4	rs767100230		C3N-00580_TP	C3N-00580_NB	G	G																c.285C>T	p.=	p.S95S	ENST00000264071	4/4	73	53	20	99	99	0	strelka-varscan-mutect	TUBB4A,missense_variant,p.Pro70Leu,ENST00000601152,;TUBB4A,missense_variant,p.Pro81Leu,ENST00000598006,;TUBB4A,synonymous_variant,p.=,ENST00000264071,NM_001289131.1,NM_006087.3,NM_001289129.1,NM_001289130.1;TUBB4A,synonymous_variant,p.=,ENST00000597686,NM_001289127.1;TUBB4A,synonymous_variant,p.=,ENST00000598635,NM_001289123.1;TUBB4A,synonymous_variant,p.=,ENST00000596291,;TUBB4A,synonymous_variant,p.=,ENST00000601640,;TUBB4A,3_prime_UTR_variant,,ENST00000596926,;TUBB4A,intron_variant,,ENST00000594075,;TUBB4A,intron_variant,,ENST00000594276,;TUBB4A,intron_variant,,ENST00000600216,;CTD-2396E7.10,downstream_gene_variant,,ENST00000596027,;CTD-2396E7.9,downstream_gene_variant,,ENST00000599292,;TUBB4A,3_prime_UTR_variant,,ENST00000595324,;TUBB4A,3_prime_UTR_variant,,ENST00000594290,;	A	ENST00000264071	Transcript	synonymous_variant	657/2552	285/1335	95/444	S	tcC/tcT	rs767100230,COSM5333908	1		-1	TUBB4A	HGNC	HGNC:20774	protein_coding	YES	CCDS12168.1	ENSP00000264071	P04350		UPI000005FC27	NM_001289131.1,NM_006087.3,NM_001289129.1,NM_001289130.1			4/4		Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01161,Prints_domain:PR01163,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF121,SMART_domains:SM00864,Superfamily_domains:SSF52490											0,1						LOW	1	SNV	1		0,1	1										PASS		rs767100230	.												A	2	1	62	6496214	6496214	G	A	1	0	0	0	0	0	0	0	1	17268	1116	39	1		1	TUBB4A	19	6496214	Silent	SNP	G	C3N-00580_TP		6496214	52121402	913	20373											
SH2D3A	0	.	GRCh38	chr19	6760934	6760934	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acggggttgcccccacgggaCccagaggcgcgaaccaggaa	10	2	15	14	4	0	1	0	0	0	1	0	4	0	3	4	5	2	1	4	5	2	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.123G>T	p.=	p.G41G	ENST00000245908	3/10	114	53	61	161	161	0	strelka-varscan-mutect	SH2D3A,synonymous_variant,p.=,ENST00000245908,NM_005490.2;SH2D3A,synonymous_variant,p.=,ENST00000597687,;SH2D3A,intron_variant,,ENST00000437152,;SH2D3A,non_coding_transcript_exon_variant,,ENST00000599563,;SH2D3A,intron_variant,,ENST00000597254,;SH2D3A,non_coding_transcript_exon_variant,,ENST00000595369,;SH2D3A,non_coding_transcript_exon_variant,,ENST00000595681,;	A	ENST00000245908	Transcript	synonymous_variant	393/2296	123/1731	41/576	G	ggG/ggT		1		-1	SH2D3A	HGNC	HGNC:16885	protein_coding	YES	CCDS12173.1	ENSP00000245908	Q9BRG2		UPI000006FD60	NM_005490.2			3/10		PROSITE_profiles:PS50001,hmmpanther:PTHR14247,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	6760934	6760934	C	A	1	0	0	0	0	0	0	0	1	14491	494	18	2		2	SH2D3A	19	6760934	Silent	SNP	C	C3N-00580_TP	264720	6760934	51856682	914	20374											
FBN3	0	.	GRCh38	chr19	8126606	8126606	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgcccttggtgctgtCtggggagaagaggcgggtca	6	8	19	8	1	2	2	1	0	1	2	2	3	2	2	1	6	2	2	1	6	1	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2417-1G>T		p.X806_splice	ENST00000600128		63	25	38	84	84	0	strelka-varscan-mutect	FBN3,splice_acceptor_variant,,ENST00000600128,;FBN3,splice_acceptor_variant,,ENST00000270509,NM_032447.3;FBN3,splice_acceptor_variant,,ENST00000601739,NM_001321431.1;	A	ENST00000600128	Transcript	splice_acceptor_variant	-/9362	2417/8430	806/2809				1		-1	FBN3	HGNC	HGNC:18794	protein_coding	YES	CCDS12196.1	ENSP00000470498	Q75N90		UPI000013D88F					19/63																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	62	8126606	8126606	C	A	1	0	0	0	0	0	0	1	0	5567	927	32	2		2	FBN3	19	8126606	Splice_Site	SNP	C	C3N-00580_TP	1365672	8126606	50491010	915	20375											
MUC16	0	.	GRCh38	chr19	8865600	8865600	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaccattgatgaagaggctAtccctgtccaggacatagaa	13	9	9	10	0	1	4	1	2	0	2	3	5	3	5	3	2	0	1	3	2	4	3	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.42552T>C	p.=	p.D14184D	ENST00000397910	75/84	43	19	24	124	124	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;MUC16,synonymous_variant,p.=,ENST00000599436,;MUC16,intron_variant,,ENST00000596956,;MUC16,synonymous_variant,p.=,ENST00000601404,;MUC16,intron_variant,,ENST00000596768,;	G	ENST00000397910	Transcript	synonymous_variant	42756/43816	42552/43524	14184/14507	D	gaT/gaC		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			75/84		PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Gene3D:1ivzA00,Superfamily_domains:0047452																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	62	8865600	8865600	A	G	1	0	0	0	0	0	0	0	1	9972	446	16	5		5	MUC16	19	8865600	Silent	SNP	A	C3N-00580_TP	738994	8865600	49752016	916	20376											
MUC16	0	.	GRCh38	chr19	8937817	8937817	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttactccactagaactagtGaccagagaggtcaccactcc	12	9	7	13	0	1	3	1	1	0	2	3	4	3	3	4	1	2	0	4	1	4	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.33138C>A	p.=	p.V11046V	ENST00000397910	5/84	204	170	34	266	266	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	synonymous_variant	33342/43816	33138/43524	11046/14507	V	gtC/gtA		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			5/84		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	62	8937817	8937817	G	T	1	0	0	0	0	0	0	0	1	9972	1277	45	2		2	MUC16	19	8937817	Silent	SNP	G	C3N-00580_TP	72217	8937817	49679799	917	20377											
MUC16	0	.	GRCh38	chr19	8947235	8947235	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtatcgtccacagcggaggtGatacccattgaaggtatggt	10	10	13	8	2	0	2	0	2	0	0	2	3	1	3	2	4	2	2	2	4	4	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.29535C>G	p.Ile9845Met	p.I9845M	ENST00000397910	3/84	170	100	70	190	190	0	strelka-varscan-mutect	MUC16,missense_variant,p.Ile9845Met,ENST00000397910,NM_024690.2;	C	ENST00000397910	Transcript	missense_variant	29739/43816	29535/43524	9845/14507	I/M	atC/atG		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	62	8947235	8947235	G	C	1	0	0	0	0	1	0	0	0	9972	1280	45	4		4	MUC16	19	8947235	Missense_Mutation	SNP	G	C3N-00580_TP	9418	8947235	49670381	918	20378											
ZNF699	0	.	GRCh38	chr19	9295543	9295543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaaacaaaggctttccCacattccttacattcatagg	14	10	6	11	0	1	0	1	0	0	0	3	1	3	1	2	3	2	1	2	3	4	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1861G>T	p.Gly621Trp	p.G621W	ENST00000591998	6/6	147	90	57	167	167	0	strelka-varscan-mutect	ZNF699,missense_variant,p.Gly621Trp,ENST00000591998,;ZNF699,missense_variant,p.Gly621Trp,ENST00000308650,NM_198535.1;CTC-325H20.4,downstream_gene_variant,,ENST00000591336,;	A	ENST00000591998	Transcript	missense_variant	2090/3358	1861/1929	621/642	G/W	Ggg/Tgg		1		-1	ZNF699	HGNC	HGNC:24750	protein_coding	YES	CCDS42495.1	ENSP00000467723	Q32M78		UPI00001D825F		deleterious(0)		6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF132,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13894,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	62	9295543	9295543	C	A	1	0	0	0	0	1	0	0	0	18674	594	21	2		2	ZNF699	19	9295543	Missense_Mutation	SNP	C	C3N-00580_TP	348308	9295543	49322073	919	20379											
ZNF844	0	.	GRCh38	chr19	12075460	12075460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgtggagaagtcttcgtgGgtcattcttcccttaatagg	7	15	12	7	1	3	1	1	0	2	1	5	2	4	1	1	3	0	0	1	3	3	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.340G>A	p.Gly114Ser	p.G114S	ENST00000439326	4/4	102	56	46	158	158	0	strelka-varscan-mutect	ZNF844,missense_variant,p.Gly114Ser,ENST00000439326,NM_001136501.1;ZNF844,3_prime_UTR_variant,,ENST00000441304,;ZNF844,5_prime_UTR_variant,,ENST00000550826,;	A	ENST00000439326	Transcript	missense_variant	515/6620	340/2001	114/666	G/S	Ggt/Agt		1		1	ZNF844	HGNC	HGNC:25932	protein_coding	YES	CCDS45985.1	ENSP00000392024	Q08AG5		UPI0000185F5D	NM_001136501.1	tolerated(0.23)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF28,hmmpanther:PTHR24379,SMART_domains:SM00355																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	12075460	12075460	G	A	1	0	0	0	0	1	0	0	0	18778	1232	43	3		3	ZNF844	19	12075460	Missense_Mutation	SNP	G	C3N-00580_TP	2779917	12075460	46542156	920	20380											
ZNF136	0	.	GRCh38	chr19	12187980	12187980	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagatggaccaccttataaAtgcatgtgggaaagccttta	14	10	10	7	0	0	1	0	0	0	1	0	4	0	3	3	2	2	1	3	2	6	4	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1602A>G	p.=	p.K534K	ENST00000343979	4/4	31	23	8	15	15	0	strelka-varscan-mutect	ZNF136,synonymous_variant,p.=,ENST00000343979,NM_003437.3;ZNF136,downstream_gene_variant,,ENST00000418338,;ZNF136,downstream_gene_variant,,ENST00000439995,;ZNF136,downstream_gene_variant,,ENST00000425827,;ZNF136,non_coding_transcript_exon_variant,,ENST00000464860,;ZNF136,downstream_gene_variant,,ENST00000476676,;	G	ENST00000343979	Transcript	synonymous_variant	1742/3643	1602/1623	534/540	K	aaA/aaG		1		1	ZNF136	HGNC	HGNC:12920	protein_coding	YES	CCDS32916.1	ENSP00000344162	P52737		UPI0000000C7B	NM_003437.3			4/4																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	62	12187980	12187980	A	G	1	0	0	0	0	0	0	0	1	18307	98	4	5		5	ZNF136	19	12187980	Silent	SNP	A	C3N-00580_TP	112520	12187980	46429636	921	20381											
BEST2	0	.	GRCh38	chr19	12755625	12755625	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcccaggtggtgaccaTcgcactgtacagctacttcc	7	9	9	16	1	0	1	0	1	0	0	2	1	1	1	4	2	4	3	4	2	2	3	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.725T>A	p.Ile242Asn	p.I242N	ENST00000549706	7/10	94	57	37	127	127	0	strelka-varscan-mutect	BEST2,missense_variant,p.Ile242Asn,ENST00000549706,;BEST2,missense_variant,p.Ile242Asn,ENST00000553030,;BEST2,missense_variant,p.Ile242Asn,ENST00000042931,NM_017682.2;BEST2,upstream_gene_variant,,ENST00000552539,;	A	ENST00000549706	Transcript	missense_variant	1049/2183	725/1530	242/509	I/N	aTc/aAc		1		1	BEST2	HGNC	HGNC:17107	protein_coding	YES	CCDS42506.1	ENSP00000448310	Q8NFU1		UPI000007395A		deleterious(0)		7/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF1,Pfam_domain:PF01062																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	12755625	12755625	T	A	1	0	0	0	0	1	0	0	0	1553	1435	50	4		4	BEST2	19	12755625	Missense_Mutation	SNP	T	C3N-00580_TP	567645	12755625	45861991	922	20382											
PALM3	0	.	GRCh38	chr19	14054911	14054911	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaccttagcctccagcTcggggcccgtggcccctgtg	3	8	11	19	2	0	0	0	0	0	0	3	0	2	0	8	3	2	1	8	3	1	1	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.716A>T	p.Glu239Val	p.E239V	ENST00000340790	6/6	111	98	13	172	172	0	strelka-varscan-mutect	PALM3,missense_variant,p.Glu239Val,ENST00000340790,NM_001145028.1;PALM3,missense_variant,p.Glu188Val,ENST00000589048,;IL27RA,downstream_gene_variant,,ENST00000263379,NM_004843.3;PALM3,downstream_gene_variant,,ENST00000586368,;	A	ENST00000340790	Transcript	missense_variant	716/2262	716/2022	239/673	E/V	gAg/gTg		1		-1	PALM3	HGNC	HGNC:33274	protein_coding	YES	CCDS46001.1	ENSP00000344996	A6NDB9		UPI0001662AC1	NM_001145028.1	deleterious(0)		6/6		hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF13,Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	62	14054911	14054911	T	A	1	0	0	0	0	1	0	0	0	11490	1551	54	4		4	PALM3	19	14054911	Missense_Mutation	SNP	T	C3N-00580_TP	1299286	14054911	44562705	923	20383											
CLEC17A	0	.	GRCh38	chr19	14594683	14594683	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagccccggaacatgacagGtgagagctgacagttggagt	12	6	14	9	1	0	3	0	3	0	1	0	6	0	5	2	3	3	2	2	3	2	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.361+1G>A		p.X121_splice	ENST00000417570		370	236	134	489	489	0	strelka-varscan-mutect	CLEC17A,splice_donor_variant,,ENST00000547437,NM_207390.3;CLEC17A,splice_donor_variant,,ENST00000417570,NM_001204118.1;CLEC17A,splice_donor_variant,,ENST00000551730,;CLEC17A,splice_donor_variant,,ENST00000339847,;	A	ENST00000417570	Transcript	splice_donor_variant	-/1399	361/1137	121/378				1		1	CLEC17A	HGNC	HGNC:34520	protein_coding	YES	CCDS56087.1	ENSP00000393719	Q6ZS10		UPI0001747A7C	NM_001204118.1				6/13																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	62	14594683	14594683	G	A	1	0	0	0	0	0	0	1	0	3267	1275	44	3		3	CLEC17A	19	14594683	Splice_Site	SNP	G	C3N-00580_TP	539772	14594683	44022933	924	20384											
WIZ	0	.	GRCh38	chr19	15437094	15437094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccccgcagaagtcacagcGcatcaggctgaaggtgcctg	10	5	13	13	2	2	2	2	1	0	1	2	2	2	2	3	2	3	3	3	2	2	0	rs763355086		C3N-00580_TP	C3N-00580_NB	G	G																c.241C>T	p.Arg81Cys	p.R81C	ENST00000263381	3/8	67	52	15	178	178	0	strelka-varscan-mutect	WIZ,missense_variant,p.Arg81Cys,ENST00000263381,NM_021241.2;WIZ,missense_variant,p.Arg81Cys,ENST00000596159,;WIZ,upstream_gene_variant,,ENST00000599910,;WIZ,upstream_gene_variant,,ENST00000599686,;WIZ,non_coding_transcript_exon_variant,,ENST00000595214,;	A	ENST00000263381	Transcript	missense_variant	455/5695	241/2385	81/794	R/C	Cgc/Tgc	rs763355086,COSM5566804,COSM5566805	1		-1	WIZ	HGNC	HGNC:30917	protein_coding	YES	CCDS42516.1	ENSP00000263381	O95785		UPI000041F888	NM_021241.2	deleterious(0.04)		3/8		PROSITE_profiles:PS50157,hmmpanther:PTHR24396:SF20,hmmpanther:PTHR24396,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs763355086	.												A	3	1	62	15437094	15437094	G	A	1	0	0	0	0	1	0	0	0	17931	1087	38	1		1	WIZ	19	15437094	Missense_Mutation	SNP	G	C3N-00580_TP	842411	15437094	43180522	925	20385											
CYP4F3	0	.	GRCh38	chr19	15658742	15658742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtctatgacccctttCgctttgacccaaagaacatc	10	11	6	14	1	1	3	0	2	1	1	4	3	2	3	4	1	1	1	4	1	3	3			C3N-00580_TP	C3N-00580_NB	C	C																c.1330C>A	p.Arg444Ser	p.R444S	ENST00000221307	12/13	109	76	33	164	164	0	strelka-varscan-mutect	CYP4F3,missense_variant,p.Arg444Ser,ENST00000221307,NM_000896.2;CYP4F3,missense_variant,p.Arg444Ser,ENST00000591058,NM_001199208.1;CYP4F3,missense_variant,p.Arg444Ser,ENST00000586182,NM_001199209.1;CYP4F3,missense_variant,p.Arg444Ser,ENST00000585846,;CYP4F3,missense_variant,p.Arg444Ser,ENST00000620621,;CYP4F3,upstream_gene_variant,,ENST00000588886,;CYP4F3,non_coding_transcript_exon_variant,,ENST00000592279,;CYP4F3,downstream_gene_variant,,ENST00000592424,;	A	ENST00000221307	Transcript	missense_variant	1377/5050	1330/1563	444/520	R/S	Cgc/Agc	COSM3529780,COSM3529781	1		1	CYP4F3	HGNC	HGNC:2646	protein_coding	YES	CCDS12332.1	ENSP00000221307	Q08477	A0A024R7J8	UPI0000052BE3	NM_000896.2	deleterious(0.02)		12/13		Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF25,Superfamily_domains:SSF48264											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs964959320	.												A	3	1	62	15658742	15658742	C	A	1	0	0	0	0	1	0	0	0	3993	884	31	1		1	CYP4F3	19	15658742	Missense_Mutation	SNP	C	C3N-00580_TP	221648	15658742	42958874	926	20386											
SLC27A1	0	.	GRCh38	chr19	17489107	17489107	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggacgactgcatcaagtAcaactgcacggtcaggccct	10	7	11	13	2	2	0	2	0	0	0	2	2	2	1	1	3	4	3	1	3	3	1	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.986A>T	p.Tyr329Phe	p.Y329F	ENST00000252595	6/12	161	84	77	161	161	0	strelka-varscan-mutect	SLC27A1,missense_variant,p.Tyr329Phe,ENST00000252595,NM_198580.2;SLC27A1,missense_variant,p.Tyr150Phe,ENST00000598424,;CTD-3131K8.2,intron_variant,,ENST00000596643,;CTD-3131K8.2,downstream_gene_variant,,ENST00000598141,;SLC27A1,3_prime_UTR_variant,,ENST00000599380,;SLC27A1,3_prime_UTR_variant,,ENST00000600277,;SLC27A1,non_coding_transcript_exon_variant,,ENST00000593701,;SLC27A1,downstream_gene_variant,,ENST00000600297,;	T	ENST00000252595	Transcript	missense_variant	1083/3594	986/1941	329/646	Y/F	tAc/tTc		1		1	SLC27A1	HGNC	HGNC:10995	protein_coding	YES	CCDS32953.1	ENSP00000252595	Q6PCB7		UPI0000038E7F	NM_198580.2	tolerated(0.15)		6/12		hmmpanther:PTHR24096:SF148,hmmpanther:PTHR24096,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	17489107	17489107	A	T	1	0	0	0	0	1	0	0	0	14795	391	14	4		4	SLC27A1	19	17489107	Missense_Mutation	SNP	A	C3N-00580_TP	1830365	17489107	41128509	927	20387											
IL12RB1	0	.	GRCh38	chr19	18082214	18082214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaggagcactcgtaacGatcactggatatccgatagc	11	8	10	12	3	1	0	1	0	0	0	3	4	2	2	2	2	4	2	2	2	3	3	rs865858530		C3N-00580_TP	C3N-00580_NB	G	G																c.175C>A	p.Arg59Ser	p.R59S	ENST00000600835	4/18	506	429	77	632	632	0	strelka-varscan-mutect	IL12RB1,missense_variant,p.Arg59Ser,ENST00000600835,NM_001290024.1;IL12RB1,missense_variant,p.Arg59Ser,ENST00000593993,NM_001290023.1,NM_005535.2;IL12RB1,missense_variant,p.Arg59Ser,ENST00000322153,NM_153701.2;IL12RB1,missense_variant,p.Arg59Ser,ENST00000598019,;IL12RB1,missense_variant,p.Arg63Ser,ENST00000430026,;IL12RB1,downstream_gene_variant,,ENST00000594176,;IL12RB1,downstream_gene_variant,,ENST00000597416,;	T	ENST00000600835	Transcript	missense_variant	474/2901	175/1989	59/662	R/S	Cgt/Agt	rs865858530,COSM3530701,COSM3530702,COSM3530703	1		-1	IL12RB1	HGNC	HGNC:5971	protein_coding	YES	CCDS54232.1	ENSP00000470788	P42701		UPI00000502CE	NM_001290024.1	tolerated(0.83)		4/18		PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF51,hmmpanther:PTHR23036											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs865858530	.												T	3	4	62	18082214	18082214	G	T	1	0	0	0	0	1	0	0	0	7534	1058	37	1		1	IL12RB1	19	18082214	Missense_Mutation	SNP	G	C3N-00580_TP	593107	18082214	40535402	928	20388											
ZNF208	0	.	GRCh38	chr19	21971698	21971698	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcttcacatttgtaGggtttctctccagtatgaat	9	16	6	10	0	3	1	1	1	2	0	5	1	4	1	2	1	0	3	2	1	3	6	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.3336C>A	p.=	p.P1112P	ENST00000397126	4/4	213	111	102	247	246	1	strelka-varscan-mutect	ZNF208,synonymous_variant,p.=,ENST00000397126,NM_007153.3;ZNF208,synonymous_variant,p.=,ENST00000609966,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;AC003973.3,upstream_gene_variant,,ENST00000624863,;	T	ENST00000397126	Transcript	synonymous_variant	3485/3992	3336/3843	1112/1280	P	ccC/ccA		1		-1	ZNF208	HGNC	HGNC:12999	protein_coding	YES	CCDS54240.1	ENSP00000380315	O43345		UPI0001B23C28	NM_007153.3			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	LOW	1	SNV	3			1										PASS		rs991855213	.												T	2	4	62	21971698	21971698	G	T	1	0	0	0	0	0	0	0	1	18343	987	35	2		2	ZNF208	19	21971698	Silent	SNP	G	C3N-00580_TP	3889484	21971698	36645918	929	20389											
ZNF99	0	.	GRCh38	chr19	22757583	22757583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattatcttatgttttctaaGggctgagaaatgcttaaaag	14	15	8	4	0	2	1	0	1	2	1	2	2	2	1	0	1	1	3	0	1	7	6			C3N-00580_TP	C3N-00580_NB	G	G																c.2326C>A	p.Leu776Ile	p.L776I	ENST00000596209	4/4	171	97	74	283	283	0	strelka-varscan-mutect	ZNF99,missense_variant,p.Leu776Ile,ENST00000596209,NM_001080409.2;ZNF99,missense_variant,p.Leu685Ile,ENST00000397104,;	T	ENST00000596209	Transcript	missense_variant	2417/7817	2326/2595	776/864	L/I	Ctt/Att	COSM1525003	1		-1	ZNF99	HGNC	HGNC:13175	protein_coding	YES	CCDS59369.1	ENSP00000472969	A8MXY4		UPI0000426011	NM_001080409.2	deleterious(0.01)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	62	22757583	22757583	G	T	1	0	0	0	0	1	0	0	0	18797	1000	35	2		2	ZNF99	19	22757583	Missense_Mutation	SNP	G	C3N-00580_TP	785885	22757583	35860033	930	20390											
ZNF536	0	.	GRCh38	chr19	30444062	30444062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtactgcgaccacagggCggcgcagaaggggaacctca	10	3	14	14	4	1	1	1	0	0	1	1	3	1	2	3	4	3	2	3	4	3	1			C3N-00580_TP	C3N-00580_NB	C	C																c.500C>A	p.Ala167Glu	p.A167E	ENST00000355537	2/5	273	140	133	317	317	0	strelka-varscan-mutect	ZNF536,missense_variant,p.Ala167Glu,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.Ala167Glu,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;	A	ENST00000355537	Transcript	missense_variant	647/4945	500/3903	167/1300	A/E	gCg/gAg	COSM3532039	1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	deleterious(0)		2/5		Gene3D:3.30.160.60,Pfam_domain:PF13909,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	62	30444062	30444062	C	A	1	0	0	0	0	1	0	0	0	18547	768	27	1		1	ZNF536	19	30444062	Missense_Mutation	SNP	C	C3N-00580_TP	7686479	30444062	28173554	931	20391											
ZNF536	0	.	GRCh38	chr19	30445471	30445471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgagtgccccgactgcGgccgggtgttccgcacttac	5	7	12	17	5	0	0	0	0	0	0	1	2	1	0	6	2	3	2	6	2	1	2			C3N-00580_TP	C3N-00580_NB	G	G																c.1909G>A	p.Gly637Ser	p.G637S	ENST00000355537	2/5	261	229	32	300	300	0	strelka-varscan-mutect	ZNF536,missense_variant,p.Gly637Ser,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.Gly637Ser,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;	A	ENST00000355537	Transcript	missense_variant	2056/4945	1909/3903	637/1300	G/S	Ggc/Agc	COSM186389	1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	deleterious(0)		2/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		rs1392485761	.												A	3	1	62	30445471	30445471	G	A	1	0	0	0	0	1	0	0	0	18547	1116	39	1		1	ZNF536	19	30445471	Missense_Mutation	SNP	G	C3N-00580_TP	1409	30445471	28172145	932	20392											
SLC7A9	0	.	GRCh38	chr19	32858461	32858461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcccgctgtgaagcaggtcCcgttagcagcaccgatggtt	7	9	13	12	3	0	1	0	1	0	0	1	2	1	1	3	2	4	6	3	2	2	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.956G>T	p.Gly319Val	p.G319V	ENST00000023064	9/13	439	210	229	566	566	0	strelka-varscan-mutect	SLC7A9,missense_variant,p.Gly319Val,ENST00000023064,NM_001243036.1,NM_001126335.1,NM_014270.4;SLC7A9,missense_variant,p.Gly319Val,ENST00000590341,;SLC7A9,missense_variant,p.Gly319Val,ENST00000587772,;RN7SKP22,downstream_gene_variant,,ENST00000365097,;SLC7A9,3_prime_UTR_variant,,ENST00000590465,;SLC7A9,3_prime_UTR_variant,,ENST00000592232,;SLC7A9,downstream_gene_variant,,ENST00000589659,;	A	ENST00000023064	Transcript	missense_variant	1148/1761	956/1464	319/487	G/V	gGg/gTg		1		-1	SLC7A9	HGNC	HGNC:11067	protein_coding	YES	CCDS12425.1	ENSP00000023064	P82251		UPI0000037773	NM_001243036.1,NM_001126335.1,NM_014270.4	deleterious(0.03)		9/13		Transmembrane_helices:TMhelix,hmmpanther:PTHR11785:SF354,hmmpanther:PTHR11785,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	32858461	32858461	C	A	1	0	0	0	0	1	0	0	0	14988	623	22	2		2	SLC7A9	19	32858461	Missense_Mutation	SNP	C	C3N-00580_TP	2412990	32858461	25759155	933	20393											
KIAA0355	0	.	GRCh38	chr19	34320083	34320083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccacacacctgaagtagaGgaagctgtgcggtcctggcg	9	6	15	11	2	0	2	0	1	0	1	1	3	1	3	3	4	2	2	3	4	3	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.672G>T	p.Glu224Asp	p.E224D	ENST00000299505	3/14	418	305	113	336	334	2	strelka-varscan-mutect	KIAA0355,missense_variant,p.Glu224Asp,ENST00000299505,NM_014686.3;KIAA0355,downstream_gene_variant,,ENST00000588470,;KIAA0355,intron_variant,,ENST00000588338,;	T	ENST00000299505	Transcript	missense_variant	1545/6717	672/3213	224/1070	E/D	gaG/gaT		1		1	KIAA0355	HGNC	HGNC:29016	protein_coding	YES	CCDS12436.1	ENSP00000299505	O15063		UPI000013E5AD	NM_014686.3	tolerated(0.1)		3/14		hmmpanther:PTHR15703:SF3,hmmpanther:PTHR15703																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	34320083	34320083	G	T	1	0	0	0	0	1	0	0	0	8082	991	35	2		2	KIAA0355	19	34320083	Missense_Mutation	SNP	G	C3N-00580_TP	1461622	34320083	24297533	934	20394											
FFAR3	0	.	GRCh38	chr19	35359435	35359435	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagctagccatcctccTgcccgtgcggctggagatgg	6	7	14	14	2	0	1	0	0	0	1	2	3	2	2	5	4	4	2	5	4	1	1			C3N-00580_TP	C3N-00580_NB	T	T																c.545T>A	p.Leu182Gln	p.L182Q	ENST00000327809	2/2	1050	930	120	1290	1290	0	varscan-mutect	FFAR3,missense_variant,p.Leu182Gln,ENST00000327809,NM_005304.3;FFAR3,missense_variant,p.Leu182Gln,ENST00000594310,;	A	ENST00000327809	Transcript	missense_variant	746/1796	545/1041	182/346	L/Q	cTg/cAg	COSM5558800	1		1	FFAR3	HGNC	HGNC:4499	protein_coding	YES	CCDS12459.1	ENSP00000328230	O14843	A0A0K0PUW7	UPI0000001C3F	NM_005304.3	deleterious(0)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF40,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	62	35359435	35359435	T	A	1	0	0	0	0	1	0	0	0	5692	1580	55	4		4	FFAR3	19	35359435	Missense_Mutation	SNP	T	C3N-00580_TP	1039352	35359435	23258181	935	20395											
KMT2B	0	.	GRCh38	chr19	35733371	35733371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagccagcccgccccgccaGgccatccgcgtcaagagggt	7	3	12	19	4	1	1	1	0	0	1	2	1	2	1	8	2	2	0	8	2	1	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.6822G>T	p.Gln2274His	p.Q2274H	ENST00000420124	28/37	210	87	123	277	277	0	strelka-varscan-mutect	KMT2B,missense_variant,p.Gln2274His,ENST00000420124,NM_014727.2;KMT2B,non_coding_transcript_exon_variant,,ENST00000592092,;KMT2B,upstream_gene_variant,,ENST00000585476,;KMT2B,upstream_gene_variant,,ENST00000586308,;	T	ENST00000420124	Transcript	missense_variant	6822/8469	6822/8148	2274/2715	Q/H	caG/caT		1		1	KMT2B	HGNC	HGNC:15840	protein_coding	YES	CCDS46055.1	ENSP00000398837	Q9UMN6		UPI00001376B5	NM_014727.2	tolerated(0.19)		28/37																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	35733371	35733371	G	T	1	0	0	0	0	1	0	0	0	8296	991	35	2		2	KMT2B	19	35733371	Missense_Mutation	SNP	G	C3N-00580_TP	373936	35733371	22884245	936	20396											
ZNF790	0	.	GRCh38	chr19	36818556	36818556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgactcatgactaaaggtGttcccatagtctgtccattc	9	15	7	10	0	2	2	1	2	1	0	5	2	4	2	2	1	0	1	2	1	3	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1788C>T	p.=	p.N596N	ENST00000356725	5/5	103	84	19	136	136	0	strelka-varscan-mutect	ZNF790,synonymous_variant,p.=,ENST00000356725,NM_206894.3;ZNF790,synonymous_variant,p.=,ENST00000615484,NM_001242802.1;ZNF790,synonymous_variant,p.=,ENST00000614179,NM_001242801.1;ZNF790,synonymous_variant,p.=,ENST00000613249,NM_001242800.1;ZNF790,downstream_gene_variant,,ENST00000528994,;ZNF790,downstream_gene_variant,,ENST00000586323,;ZNF790,downstream_gene_variant,,ENST00000527645,;ZNF790,downstream_gene_variant,,ENST00000525288,;ZNF790-AS1,intron_variant,,ENST00000588906,;ZNF790-AS1,intron_variant,,ENST00000587278,;	A	ENST00000356725	Transcript	synonymous_variant	1909/3037	1788/1911	596/636	N	aaC/aaT		1		-1	ZNF790	HGNC	HGNC:33114	protein_coding	YES	CCDS12496.1	ENSP00000349161	Q6PG37		UPI0000160EF0	NM_206894.3			5/5		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF224,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	62	36818556	36818556	G	A	1	0	0	0	0	0	0	0	1	18747	1368	48	3		3	ZNF790	19	36818556	Silent	SNP	G	C3N-00580_TP	1085185	36818556	21799060	937	20397											
ZNF527	0	.	GRCh38	chr19	37388650	37388650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atatttatgataaactcttcCcccaaaattcagtcataatt	15	15	2	9	0	3	1	2	1	1	0	4	1	4	1	2	0	1	0	2	0	7	8	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.601C>T	p.Pro201Ser	p.P201S	ENST00000436120	5/5	99	69	30	113	113	0	strelka-varscan-mutect	ZNF527,missense_variant,p.Pro201Ser,ENST00000436120,NM_032453.1;ZNF527,intron_variant,,ENST00000587349,;ZNF527,downstream_gene_variant,,ENST00000483919,;ZNF527,downstream_gene_variant,,ENST00000588911,;ZNF527,3_prime_UTR_variant,,ENST00000356178,;ZNF527,3_prime_UTR_variant,,ENST00000588512,;	T	ENST00000436120	Transcript	missense_variant	708/2828	601/1830	201/609	P/S	Ccc/Tcc		1		1	ZNF527	HGNC	HGNC:29385	protein_coding	YES	CCDS42559.1	ENSP00000390179	Q8NB42		UPI00002021F5	NM_032453.1	tolerated(0.94)		5/5																			MODERATE	1	SNV	4			1										PASS		.	.												T	3	4	62	37388650	37388650	C	T	1	0	0	0	0	1	0	0	0	18541	623	22	3		3	ZNF527	19	37388650	Missense_Mutation	SNP	C	C3N-00580_TP	570094	37388650	21228966	938	20398											
LGALS4	0	.	GRCh38	chr19	38801806	38801806	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacatcaccctggatttcCaatgtgtccaccctctggaa	9	11	8	13	0	2	1	1	1	1	0	4	3	4	3	4	2	0	0	4	2	2	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.930G>A	p.=	p.L310L	ENST00000307751	10/10	218	109	109	328	327	1	strelka-varscan-mutect	LGALS4,synonymous_variant,p.=,ENST00000307751,NM_006149.3;LGALS4,synonymous_variant,p.=,ENST00000600070,;RNU6-140P,upstream_gene_variant,,ENST00000384566,;LGALS4,downstream_gene_variant,,ENST00000597803,;LGALS4,3_prime_UTR_variant,,ENST00000595291,;LGALS4,downstream_gene_variant,,ENST00000595278,;LGALS4,downstream_gene_variant,,ENST00000597153,;LGALS4,downstream_gene_variant,,ENST00000596628,;LGALS4,downstream_gene_variant,,ENST00000595342,;	T	ENST00000307751	Transcript	synonymous_variant	1408/1535	930/972	310/323	L	ttG/ttA		1		-1	LGALS4	HGNC	HGNC:6565	protein_coding	YES	CCDS12521.1	ENSP00000302100	P56470	Q6FHZ4	UPI0000001651	NM_006149.3			10/10		PROSITE_profiles:PS51304,hmmpanther:PTHR11346:SF32,hmmpanther:PTHR11346,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00908,SMART_domains:SM00276,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	38801806	38801806	C	T	1	0	0	0	0	0	0	0	1	8653	593	21	3		3	LGALS4	19	38801806	Silent	SNP	C	C3N-00580_TP	1413156	38801806	19815810	939	20399											
FBL	0	.	GRCh38	chr19	39840661	39840661	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccgccgcctccacctcctCctcgtccacgacctctaaag	6	7	6	22	5	1	0	0	0	1	0	6	1	5	0	9	0	0	0	9	0	2	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.137G>T	p.Gly46Val	p.G46V	ENST00000221801	2/9	204	152	52	218	218	0	strelka-varscan-mutect	FBL,missense_variant,p.Gly46Val,ENST00000221801,NM_001436.3;FBL,missense_variant,p.Gly46Val,ENST00000594309,;FBL,missense_variant,p.Gly33Val,ENST00000598417,;FBL,missense_variant,p.Gly46Val,ENST00000599134,;FBL,intron_variant,,ENST00000601274,;FBL,intron_variant,,ENST00000597224,;FBL,intron_variant,,ENST00000597634,;FBL,upstream_gene_variant,,ENST00000595545,;FBL,upstream_gene_variant,,ENST00000626009,;FBL,upstream_gene_variant,,ENST00000593503,;FBL,non_coding_transcript_exon_variant,,ENST00000599159,;FBL,intron_variant,,ENST00000594443,;	A	ENST00000221801	Transcript	missense_variant	251/1160	137/966	46/321	G/V	gGa/gTa		1		-1	FBL	HGNC	HGNC:3599	protein_coding	YES	CCDS12545.1	ENSP00000221801	P22087		UPI000012A578	NM_001436.3	deleterious_low_confidence(0.01)		2/9		hmmpanther:PTHR10335,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	39840661	39840661	C	A	1	0	0	0	0	1	0	0	0	5558	855	30	2		2	FBL	19	39840661	Missense_Mutation	SNP	C	C3N-00580_TP	1038855	39840661	18776955	940	20400											
FCGBP	0	.	GRCh38	chr19	39872124	39872124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacggccacgccagctgcCtgacaggccgccgtgtaggc	6	6	13	16	4	1	1	1	1	0	0	1	1	1	1	5	3	2	2	5	3	1	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.11703G>T	p.Gln3901His	p.Q3901H	ENST00000616721	24/28	122	43	79	131	131	0	strelka-varscan-mutect	FCGBP,missense_variant,p.Gln3901His,ENST00000616721,NM_003890.2;	A	ENST00000616721	Transcript	missense_variant	11711/12787	11703/12615	3901/4204	Q/H	caG/caT		1		-1	FCGBP	HGNC	HGNC:13572	protein_coding	YES		ENSP00000481056		A0A087WXI2	UPI0004620B9E	NM_003890.2	tolerated(0.08)		24/28		Pfam_domain:PF08742,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF244,SMART_domains:SM00832																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	39872124	39872124	C	A	1	0	0	0	0	1	0	0	0	5641	680	24	2		2	FCGBP	19	39872124	Missense_Mutation	SNP	C	C3N-00580_TP	31463	39872124	18745492	941	20401											
FCGBP	0	.	GRCh38	chr19	39873508	39873508	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcatggggcccacaggCtgcgccctcctggcaggtga	5	7	13	16	1	1	1	1	1	0	0	3	1	3	1	4	5	1	2	4	5	0	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.10891G>T	p.Ala3631Ser	p.A3631S	ENST00000616721	23/28	268	116	152	290	290	0	strelka-varscan-mutect	FCGBP,missense_variant,p.Ala3631Ser,ENST00000616721,NM_003890.2;	A	ENST00000616721	Transcript	missense_variant	10899/12787	10891/12615	3631/4204	A/S	Gcc/Tcc		1		-1	FCGBP	HGNC	HGNC:13572	protein_coding	YES		ENSP00000481056		A0A087WXI2	UPI0004620B9E	NM_003890.2	tolerated(1)		23/28		Pfam_domain:PF12714,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF244,SMART_domains:SM00215																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	39873508	39873508	C	A	1	0	0	0	0	1	0	0	0	5641	797	28	2		2	FCGBP	19	39873508	Missense_Mutation	SNP	C	C3N-00580_TP	1384	39873508	18744108	942	20402											
ZNF780B	0	.	GRCh38	chr19	40036517	40036517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttctaaaataaaaggcCtcgaggccaagtgttttact	13	13	7	8	1	2	0	1	0	1	0	3	1	2	0	2	2	1	1	2	2	6	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.342G>T	p.Glu114Asp	p.E114D	ENST00000434248	5/5	98	50	48	155	155	0	strelka-varscan-mutect	ZNF780B,missense_variant,p.Glu114Asp,ENST00000434248,;ZNF780B,missense_variant,p.Glu114Asp,ENST00000617676,NM_001005851.2;ZNF780B,5_prime_UTR_variant,,ENST00000221355,;ZNF780B,downstream_gene_variant,,ENST00000598845,;ZNF780B,downstream_gene_variant,,ENST00000595995,;	A	ENST00000434248	Transcript	missense_variant	408/8665	342/2502	114/833	E/D	gaG/gaT		1		-1	ZNF780B	HGNC	HGNC:33109	protein_coding	YES	CCDS46077.1	ENSP00000391641	Q9Y6R6	A0A024R0P7	UPI000007137F		tolerated(0.26)		5/5		hmmpanther:PTHR24377:SF203,hmmpanther:PTHR24377																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	40036517	40036517	C	A	1	0	0	0	0	1	0	0	0	18736	680	24	2		2	ZNF780B	19	40036517	Missense_Mutation	SNP	C	C3N-00580_TP	163009	40036517	18581099	943	20403											
SULT2B1	0	.	GRCh38	chr19	48596811	48596811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggaggcactgggctccGtcgtggcacactcaaccttc	8	7	12	14	2	1	0	1	0	0	0	4	1	2	1	2	4	1	4	2	4	2	1	rs2302947		C3N-00580_TP	C3N-00580_NB	G	G																c.718G>A	p.Val240Ile	p.V240I	ENST00000201586	6/7	190	170	20	329	329	0	strelka-varscan-mutect	SULT2B1,missense_variant,p.Val225Ile,ENST00000323090,NM_004605.2;SULT2B1,missense_variant,p.Val240Ile,ENST00000201586,NM_177973.1;FAM83E,downstream_gene_variant,,ENST00000263266,NM_017708.3;SULT2B1,non_coding_transcript_exon_variant,,ENST00000594274,;SULT2B1,non_coding_transcript_exon_variant,,ENST00000597923,;	A	ENST00000201586	Transcript	missense_variant	896/1295	718/1098	240/365	V/I	Gtc/Atc	rs2302947,COSM303321,COSM303322	1		1	SULT2B1	HGNC	HGNC:11459	protein_coding	YES	CCDS12723.1	ENSP00000201586	O00204		UPI0000073F98	NM_177973.1	tolerated(0.1)		6/7		hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF9,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs2302947	.												A	3	1	62	48596811	48596811	G	A	1	0	0	0	0	1	0	0	0	15768	1145	40	1		1	SULT2B1	19	48596811	Missense_Mutation	SNP	G	C3N-00580_TP	8560294	48596811	10020805	944	20404											
CGB2	0	.	GRCh38	chr19	49033009	49033009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggctgcccgcgcggcGtgaaccccgtggtctcctac	3	8	12	18	5	1	1	0	1	1	0	3	1	2	1	5	3	3	1	5	3	2	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.280G>A	p.Val94Met	p.V94M	ENST00000359342	3/3	93	33	60	150	150	0	strelka-varscan-mutect	CGB2,missense_variant,p.Val82Met,ENST00000474913,NM_001319065.1;CGB2,missense_variant,p.Val94Met,ENST00000359342,NM_033378.1;CTB-60B18.6,intron_variant,,ENST00000591656,;CTB-60B18.6,intron_variant,,ENST00000604577,;CGB1,downstream_gene_variant,,ENST00000601167,;CGB1,downstream_gene_variant,,ENST00000301407,NM_033377.1;NTF6G,downstream_gene_variant,,ENST00000591094,;	A	ENST00000359342	Transcript	missense_variant	398/627	280/492	94/163	V/M	Gtg/Atg		1		1	CGB2	HGNC	HGNC:16722	protein_coding	YES	CCDS12750.2	ENSP00000352295		H9KV56	UPI000059D759	NM_033378.1	deleterious(0)		3/3		Gene3D:2.10.90.10,Pfam_domain:PF00007,hmmpanther:PTHR11515,hmmpanther:PTHR11515:SF16,SMART_domains:SM00068,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		rs1463794919	.												A	3	1	62	49033009	49033009	G	A	1	0	0	0	0	1	0	0	0	3055	1145	40	1		1	CGB2	19	49033009	Missense_Mutation	SNP	G	C3N-00580_TP	436198	49033009	9584607	945	20405											
CGB1	0	.	GRCh38	chr19	49036247	49036247	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcggcaccgtggccgaagCggctccttggatgcccatgt	5	7	16	13	4	0	0	0	0	0	0	1	2	1	1	4	5	2	2	4	5	1	1	rs200371312		C3N-00580_TP	C3N-00580_NB	C	C																c.66G>T	p.=	p.P22P	ENST00000301407	2/3	317	165	152	424	424	0	strelka-varscan-mutect	CGB1,synonymous_variant,p.=,ENST00000601167,;CGB1,synonymous_variant,p.=,ENST00000301407,NM_033377.1;CTB-60B18.6,intron_variant,,ENST00000591656,;CTB-60B18.6,intron_variant,,ENST00000604577,;CGB2,downstream_gene_variant,,ENST00000474913,NM_001319065.1;CGB2,downstream_gene_variant,,ENST00000359342,NM_033378.1;NTF6B,downstream_gene_variant,,ENST00000591913,;	A	ENST00000301407	Transcript	synonymous_variant	171/573	66/468	22/155	P	ccG/ccT	rs200371312,COSM1395173	1		-1	CGB1	HGNC	HGNC:16721	protein_coding	YES	CCDS12751.2	ENSP00000301407	A6NKQ9		UPI0000EE7C13	NM_033377.1			2/3		hmmpanther:PTHR11515,hmmpanther:PTHR11515:SF16											0,1						LOW	1	SNV	1		0,1	1										PASS		rs200371312	.												A	2	1	62	49036247	49036247	C	A	1	0	0	0	0	0	0	0	1	3054	755	27	1		1	CGB1	19	49036247	Silent	SNP	C	C3N-00580_TP	3238	49036247	9581369	946	20406											
CGB5	0	.	GRCh38	chr19	49045262	49045262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagtccatcccgactcccgGggccctcggacaccccgatc	7	5	9	20	4	0	0	0	0	0	0	5	3	3	1	6	3	0	0	6	3	1	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.466G>T	p.Gly156Trp	p.G156W	ENST00000301408	3/3	66	29	37	56	56	0	strelka-varscan-mutect	CGB5,missense_variant,p.Gly156Trp,ENST00000301408,NM_033043.1;CGB8,downstream_gene_variant,,ENST00000448456,NM_033183.2;CTB-60B18.15,downstream_gene_variant,,ENST00000596318,;CTB-60B18.17,downstream_gene_variant,,ENST00000593746,;	T	ENST00000301408	Transcript	missense_variant	792/841	466/498	156/165	G/W	Ggg/Tgg		1		1	CGB5	HGNC	HGNC:16452	protein_coding	YES	CCDS12752.1	ENSP00000301408	P0DN86	A0A0F7RQP8	UPI0000035497	NM_033043.1	deleterious_low_confidence(0.01)		3/3		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1356275365	.												T	3	4	62	49045262	49045262	G	T	1	0	0	0	0	1	0	0	0	3057	1232	43	2		2	CGB5	19	49045262	Missense_Mutation	SNP	G	C3N-00580_TP	9015	49045262	9572354	947	20407											
KLK8	0	.	GRCh38	chr19	51000233	51000233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctttattctgtaggctgtGgtctcccaggcgtactgtgt	5	16	11	9	1	3	0	0	0	3	0	4	0	3	0	1	3	1	3	1	3	3	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.391C>A	p.His131Asn	p.H131N	ENST00000391806	4/6	65	46	19	68	67	1	strelka-varscan-mutect	KLK8,missense_variant,p.His86Asn,ENST00000600767,NM_007196.3;KLK8,missense_variant,p.His131Asn,ENST00000391806,NM_144505.2;KLK8,missense_variant,p.His86Asn,ENST00000595238,;KLK8,5_prime_UTR_variant,,ENST00000291726,NM_001281431.1;KLK8,intron_variant,,ENST00000347619,NM_144506.2;KLK8,intron_variant,,ENST00000320838,NM_144507.2;KLK8,intron_variant,,ENST00000593490,;KLK9,downstream_gene_variant,,ENST00000594211,NM_012315.1;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK8,upstream_gene_variant,,ENST00000598195,;KLK8,synonymous_variant,p.=,ENST00000594669,;CTC-518B2.8,intron_variant,,ENST00000599166,;CTC-518B2.8,downstream_gene_variant,,ENST00000250366,;KLK9,downstream_gene_variant,,ENST00000544410,;KLK8,downstream_gene_variant,,ENST00000599710,;KLK8,upstream_gene_variant,,ENST00000594914,;	T	ENST00000391806	Transcript	missense_variant	472/1051	391/918	131/305	H/N	Cac/Aac		1		-1	KLK8	HGNC	HGNC:6369	protein_coding	YES	CCDS42600.1	ENSP00000375682	O60259		UPI000002ACDB	NM_144505.2	deleterious(0)		4/6		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF123,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	51000233	51000233	G	T	1	0	0	0	0	1	0	0	0	8279	1348	47	2		2	KLK8	19	51000233	Missense_Mutation	SNP	G	C3N-00580_TP	1954971	51000233	7617383	948	20408											
CEACAM18	0	.	GRCh38	chr19	51480567	51480567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagggagagagtgaacaGagaaggcagcctgttgatca	13	6	16	6	0	1	4	1	2	0	2	1	7	1	5	1	3	2	3	1	3	2	1			C3N-00580_TP	C3N-00580_NB	G	G																c.287G>T	p.Arg96Ile	p.R96I	ENST00000396477	2/6	372	186	186	462	462	0	strelka-varscan-mutect	CEACAM18,missense_variant,p.Arg96Ile,ENST00000396477,NM_001278392.1;	T	ENST00000396477	Transcript	missense_variant	308/1476	287/1155	96/384	R/I	aGa/aTa	COSM4903578,COSM4903579	1		1	CEACAM18	HGNC	HGNC:31949	protein_coding	YES		ENSP00000379738	A8MTB9		UPI0002C5E52C	NM_001278392.1	tolerated(0.2)		2/6		Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	62	51480567	51480567	G	T	1	0	0	0	0	1	0	0	0	2895	942	33	2		2	CEACAM18	19	51480567	Missense_Mutation	SNP	G	C3N-00580_TP	480334	51480567	7137049	949	20409											
OSCAR	0	.	GRCh38	chr19	54095744	54095744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctgagggaggaggggCtgcaggactagacccctggg	7	6	20	8	0	1	2	0	1	1	1	1	5	1	5	2	7	1	2	2	7	1	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.795G>T	p.Gln265His	p.Q265H	ENST00000611261	6/6	44	32	12	52	52	0	strelka-varscan-mutect	OSCAR,missense_variant,p.Gln265His,ENST00000611261,NM_206818.2;OSCAR,missense_variant,p.Gln261His,ENST00000284648,NM_001282349.1;OSCAR,missense_variant,p.Gln250His,ENST00000616215,NM_001282350.1;OSCAR,missense_variant,p.Gln265His,ENST00000359649,;OSCAR,missense_variant,p.Gln250His,ENST00000391761,;OSCAR,intron_variant,,ENST00000617140,NM_130771.4;OSCAR,intron_variant,,ENST00000358375,NM_133169.4;OSCAR,intron_variant,,ENST00000351806,NM_133168.4;OSCAR,intron_variant,,ENST00000616447,;OSCAR,intron_variant,,ENST00000356532,;OSCAR,downstream_gene_variant,,ENST00000391760,;	A	ENST00000611261	Transcript	missense_variant	987/2061	795/861	265/286	Q/H	caG/caT		1		-1	OSCAR	HGNC	HGNC:29960	protein_coding	YES	CCDS12876.1	ENSP00000479089		A0A087WV17	UPI00034F23BB	NM_206818.2	deleterious_low_confidence(0.05)		6/6																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	62	54095744	54095744	C	A	1	0	0	0	0	1	0	0	0	11351	796	28	2		2	OSCAR	19	54095744	Missense_Mutation	SNP	C	C3N-00580_TP	2615177	54095744	4521872	950	20410											
LENG1	0	.	GRCh38	chr19	54159657	54159657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcgggcgacattgtccttGttccggacgtgccagctctt	5	11	12	13	5	1	0	0	0	1	0	3	2	3	1	3	2	2	2	3	2	0	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.39C>A	p.Asn13Lys	p.N13K	ENST00000222224	1/4	146	71	75	205	205	0	strelka-varscan-mutect	LENG1,missense_variant,p.Asn13Lys,ENST00000222224,NM_024316.2;CNOT3,downstream_gene_variant,,ENST00000358389,;CNOT3,downstream_gene_variant,,ENST00000221232,NM_014516.3;CNOT3,downstream_gene_variant,,ENST00000447684,;TMC4,downstream_gene_variant,,ENST00000617472,NM_001145303.2;TMC4,downstream_gene_variant,,ENST00000619895,NM_144686.3;CNOT3,downstream_gene_variant,,ENST00000471126,;TMC4,downstream_gene_variant,,ENST00000476013,;TMC4,downstream_gene_variant,,ENST00000613492,;CNOT3,downstream_gene_variant,,ENST00000618939,;CNOT3,downstream_gene_variant,,ENST00000613073,;CNOT3,downstream_gene_variant,,ENST00000617930,;TMC4,downstream_gene_variant,,ENST00000613723,;TMC4,downstream_gene_variant,,ENST00000497518,;TMC4,downstream_gene_variant,,ENST00000615945,;TMC4,downstream_gene_variant,,ENST00000611183,;TMC4,downstream_gene_variant,,ENST00000495398,;	T	ENST00000222224	Transcript	missense_variant	226/1542	39/795	13/264	N/K	aaC/aaA		1		-1	LENG1	HGNC	HGNC:15502	protein_coding	YES	CCDS12881.1	ENSP00000222224	Q96BZ8		UPI00034F2389	NM_024316.2	deleterious(0.01)		1/4		hmmpanther:PTHR22093,Pfam_domain:PF10197,SMART_domains:SM01083																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	54159657	54159657	G	T	1	0	0	0	0	1	0	0	0	8631	1368	48	2		2	LENG1	19	54159657	Missense_Mutation	SNP	G	C3N-00580_TP	63913	54159657	4457959	951	20411											
NLRP7	0	.	GRCh38	chr19	54939759	54939759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctggaacagggccgCgttgctcctcattagctcaa	8	8	11	14	2	2	0	2	0	0	0	3	1	3	1	3	2	4	4	3	2	3	2			C3N-00580_TP	C3N-00580_NB	C	C																c.1060G>T	p.Ala354Ser	p.A354S	ENST00000588756	6/13	438	219	219	489	489	0	strelka-varscan-mutect	NLRP7,missense_variant,p.Ala354Ser,ENST00000588756,;NLRP7,missense_variant,p.Ala354Ser,ENST00000328092,NM_139176.3;NLRP7,missense_variant,p.Ala354Ser,ENST00000592784,NM_001127255.1;NLRP7,missense_variant,p.Ala354Ser,ENST00000340844,NM_206828.3;NLRP7,missense_variant,p.Ala354Ser,ENST00000590030,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,missense_variant,p.Ala354Ser,ENST00000586379,;	A	ENST00000588756	Transcript	missense_variant	1547/3826	1060/3114	354/1037	A/S	Gcg/Tcg	COSM1396432,COSM1396433,COSM5155907	1		-1	NLRP7	HGNC	HGNC:22947	protein_coding	YES	CCDS46183.1	ENSP00000467123	Q8WX94		UPI000174C6C4		tolerated(0.14)		6/13		PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF14											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	62	54939759	54939759	C	A	1	0	0	0	0	1	0	0	0	10520	768	27	1		1	NLRP7	19	54939759	Missense_Mutation	SNP	C	C3N-00580_TP	780102	54939759	3677857	952	20412											
PTPRH	0	.	GRCh38	chr19	55185656	55185656	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagacagtgtcttctgctCctccacctggaaggagggag	9	8	12	12	0	2	1	0	0	2	1	4	4	4	4	3	3	1	1	3	3	1	1	rs745624477		C3N-00580_TP	C3N-00580_NB	C	C																c.2908G>T	p.Glu970Ter	p.E970*	ENST00000376350	18/20	124	61	63	173	173	0	strelka-varscan-mutect	PTPRH,stop_gained,p.Glu970Ter,ENST00000376350,NM_002842.4;PTPRH,stop_gained,p.Glu792Ter,ENST00000263434,NM_001161440.2;	A	ENST00000376350	Transcript	stop_gained	2931/3877	2908/3348	970/1115	E/*	Gag/Tag	rs745624477	1		-1	PTPRH	HGNC	HGNC:9672	protein_coding	YES	CCDS33110.1	ENSP00000365528	Q9HD43		UPI000052D443	NM_002842.4			18/20		PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF297,hmmpanther:PTHR19134,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00194,Superfamily_domains:SSF52799																	HIGH	1	SNV	1			1										PASS		rs745624477	.												A	4	1	62	55185656	55185656	C	A	1	0	0	0	0	0	1	0	0	12957	864	30	2		2	PTPRH	19	55185656	Nonsense_Mutation	SNP	C	C3N-00580_TP	245897	55185656	3431960	953	20413											
PTPRH	0	.	GRCh38	chr19	55187581	55187581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaccatctgagactggCtgtggcccaccagggagagt	10	6	13	12	0	1	2	0	1	1	2	1	4	1	2	4	3	1	1	4	3	1	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2498G>T	p.Ser833Ile	p.S833I	ENST00000376350	14/20	208	111	97	288	288	0	strelka-varscan-mutect	PTPRH,missense_variant,p.Ser833Ile,ENST00000376350,NM_002842.4;PTPRH,missense_variant,p.Ser655Ile,ENST00000263434,NM_001161440.2;	A	ENST00000376350	Transcript	missense_variant	2521/3877	2498/3348	833/1115	S/I	aGc/aTc		1		-1	PTPRH	HGNC	HGNC:9672	protein_coding	YES	CCDS33110.1	ENSP00000365528	Q9HD43		UPI000052D443	NM_002842.4	tolerated(0.08)		14/20		PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF297,hmmpanther:PTHR19134,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	55187581	55187581	C	A	1	0	0	0	0	1	0	0	0	12957	797	28	2		2	PTPRH	19	55187581	Missense_Mutation	SNP	C	C3N-00580_TP	1925	55187581	3430035	954	20414											
NLRP9	0	.	GRCh38	chr19	55733449	55733449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttatactcatttttcaTggtttctttgtagaaatgct	8	22	5	6	0	4	1	2	0	2	1	4	1	4	1	0	1	2	3	0	1	4	9	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.382A>G	p.Met128Val	p.M128V	ENST00000332836	2/9	116	51	65	181	181	0	strelka-varscan-mutect	NLRP9,missense_variant,p.Met128Val,ENST00000332836,NM_176820.3;NLRP9,missense_variant,p.Met128Val,ENST00000590200,;RN7SKP109,upstream_gene_variant,,ENST00000410592,;	C	ENST00000332836	Transcript	missense_variant	410/3484	382/2976	128/991	M/V	Atg/Gtg		1		-1	NLRP9	HGNC	HGNC:22941	protein_coding	YES	CCDS12934.1	ENSP00000331857	Q7RTR0		UPI00001B6B39	NM_176820.3	tolerated(0.91)		2/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1192514526	.												C	3	2	62	55733449	55733449	T	C	1	0	0	0	0	1	0	0	0	10522	1464	51	5		5	NLRP9	19	55733449	Missense_Mutation	SNP	T	C3N-00580_TP	545868	55733449	2884167	955	20415											
CSNK2A1	0	.	GRCh38	chr20	483999	483999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctggaacaggcatccCaagggggttggcagcagcaa	11	4	16	10	0	0	0	0	0	0	0	1	1	1	1	1	6	4	7	1	6	3	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1138G>T	p.Gly380Trp	p.G380W	ENST00000217244	14/14	149	125	24	200	200	0	strelka-varscan-mutect	CSNK2A1,missense_variant,p.Gly380Trp,ENST00000217244,NM_177559.2;CSNK2A1,missense_variant,p.Gly380Trp,ENST00000349736,NM_001895.3;CSNK2A1,missense_variant,p.Gly244Trp,ENST00000400217,NM_177560.2;CSNK2A1,intron_variant,,ENST00000400227,;CSNK2A1,intron_variant,,ENST00000619801,;	A	ENST00000217244	Transcript	missense_variant	1514/4416	1138/1176	380/391	G/W	Ggg/Tgg		1		-1	CSNK2A1	HGNC	HGNC:2457	protein_coding	YES	CCDS13003.1	ENSP00000217244	P68400		UPI0000000CB5	NM_177559.2	deleterious_low_confidence(0)		14/14		hmmpanther:PTHR24054,hmmpanther:PTHR24054:SF28																	MODERATE	1	SNV	1			1										PASS		rs1397626830	.												A	3	1	62	483999	483999	C	A	1	0	0	0	0	1	0	0	0	3757	594	21	2		2	CSNK2A1	20	483999	Missense_Mutation	SNP	C	C3N-00580_TP		483999	63960168	956	20416											
RSPO4	0	.	GRCh38	chr20	968115	968115	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgatacagcctgtgcAgttgccccccaggccagtgc	8	7	12	14	0	0	2	0	1	0	1	0	2	0	2	5	1	5	3	5	1	1	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.103T>A	p.Cys35Ser	p.C35S	ENST00000217260	2/5	418	298	120	410	410	0	strelka-varscan-mutect	RSPO4,missense_variant,p.Cys35Ser,ENST00000217260,NM_001029871.3;RSPO4,missense_variant,p.Cys35Ser,ENST00000400634,NM_001040007.2;	T	ENST00000217260	Transcript	missense_variant	200/2707	103/705	35/234	C/S	Tgc/Agc		1		-1	RSPO4	HGNC	HGNC:16175	protein_coding	YES	CCDS42846.1	ENSP00000217260	Q2I0M5		UPI00001D8320	NM_001029871.3	deleterious(0)		2/5		hmmpanther:PTHR23275,hmmpanther:PTHR23275:SF51,Pfam_domain:PF15913,Gene3D:2.10.220.10,SMART_domains:SM00261																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	62	968115	968115	A	T	1	0	0	0	0	1	0	0	0	13970	188	7	4		4	RSPO4	20	968115	Missense_Mutation	SNP	A	C3N-00580_TP	484116	968115	63476052	957	20417											
SIRPG	0	.	GRCh38	chr20	1635271	1635271	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttgagtaacctcaccaggGgtagcatctgagctctggtc	8	12	11	10	0	3	2	1	2	2	0	4	2	3	2	2	3	3	4	2	3	2	4	rs753213551		C3N-00580_TP	C3N-00580_NB	G	G																c.1077C>A	p.=	p.T359T	ENST00000303415	4/6	103	76	27	93	93	0	strelka-varscan-mutect	SIRPG,synonymous_variant,p.=,ENST00000381580,;SIRPG,synonymous_variant,p.=,ENST00000303415,NM_018556.3;SIRPG,intron_variant,,ENST00000381583,NM_001039508.1;SIRPG,intron_variant,,ENST00000344103,NM_080816.2;SIRPG,intron_variant,,ENST00000216927,;SIRPG-AS1,intron_variant,,ENST00000456177,;SIRPG-AS1,intron_variant,,ENST00000437384,;SIRPG,upstream_gene_variant,,ENST00000478145,;SIRPG,upstream_gene_variant,,ENST00000497407,;	T	ENST00000303415	Transcript	synonymous_variant	1142/1716	1077/1164	359/387	T	acC/acA	rs753213551	1		-1	SIRPG	HGNC	HGNC:15757	protein_coding	YES	CCDS13020.2	ENSP00000305529	Q9P1W8		UPI00001AE5FD	NM_018556.3			4/6		hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF6																	LOW	1	SNV	1			1										PASS		rs753213551	.												T	2	4	62	1635271	1635271	G	T	1	0	0	0	0	0	0	0	1	14599	1246	43	2		2	SIRPG	20	1635271	Silent	SNP	G	C3N-00580_TP	667156	1635271	62808896	958	20418											
TGM3	0	.	GRCh38	chr20	2325924	2325924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacggtggatggcaggtgttGgatgctaccccgcaggaaag	9	8	16	8	2	0	0	0	0	0	0	0	3	0	3	2	6	3	4	2	6	3	3	rs780274543		C3N-00580_TP	C3N-00580_NB	G	G																c.1059G>A	p.=	p.L353L	ENST00000381458	8/13	270	187	83	271	271	0	strelka-varscan-mutect	TGM3,synonymous_variant,p.=,ENST00000381458,NM_003245.3;TGM3,non_coding_transcript_exon_variant,,ENST00000463090,;	A	ENST00000381458	Transcript	synonymous_variant	1122/2642	1059/2082	353/693	L	ttG/ttA	rs780274543	1		1	TGM3	HGNC	HGNC:11779	protein_coding	YES	CCDS33435.1	ENSP00000370867	Q08188		UPI0000136CCC	NM_003245.3			8/13		Gene3D:1ex0A02,Pfam_domain:PF01841,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF36,SMART_domains:SM00460,Superfamily_domains:SSF54001																	LOW	1	SNV	1			1										PASS		rs780274543	.												A	2	1	62	2325924	2325924	G	A	1	0	0	0	0	0	0	0	1	16264	1339	47	3		3	TGM3	20	2325924	Silent	SNP	G	C3N-00580_TP	690653	2325924	62118243	959	20419											
TMC2	0	.	GRCh38	chr20	2558466	2558466	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccggcaggtgacaggctGggaaggagatcctcaagcaa	11	4	15	11	1	1	2	1	1	0	1	2	4	2	3	3	5	1	3	3	5	3	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.93G>T	p.=	p.L31L	ENST00000358864	3/20	316	211	105	373	373	0	strelka-varscan-mutect	TMC2,synonymous_variant,p.=,ENST00000358864,NM_080751.2;	T	ENST00000358864	Transcript	synonymous_variant	108/3169	93/2721	31/906	L	ctG/ctT		1		1	TMC2	HGNC	HGNC:16527	protein_coding	YES	CCDS13029.2	ENSP00000351732	Q8TDI7		UPI0000246C98	NM_080751.2			3/20		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF17																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	2558466	2558466	G	T	1	0	0	0	0	0	0	0	1	16431	1335	47	2		2	TMC2	20	2558466	Silent	SNP	G	C3N-00580_TP	232542	2558466	61885701	960	20420											
PROKR2	0	.	GRCh38	chr20	5302556	5302556	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtagagctgctgatccacAggccagatctggccacagaa	12	7	11	11	0	1	4	0	1	1	3	2	4	2	4	3	2	2	3	3	2	3	2	rs763738276		C3N-00580_TP	C3N-00580_NB	A	A																c.639T>A	p.=	p.P213P	ENST00000217270	2/2	790	510	280	639	639	0	strelka-varscan-mutect	PROKR2,synonymous_variant,p.=,ENST00000217270,NM_144773.2;	T	ENST00000217270	Transcript	synonymous_variant	639/1155	639/1155	213/384	P	ccT/ccA	rs763738276	1		-1	PROKR2	HGNC	HGNC:15836	protein_coding	YES	CCDS13089.1	ENSP00000217270	Q8NFJ6		UPI000003BCC6	NM_144773.2			2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF234,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		rs763738276	.												T	2	4	62	5302556	5302556	A	T	1	0	0	0	0	0	0	0	1	12686	175	7	4		4	PROKR2	20	5302556	Silent	SNP	A	C3N-00580_TP	2744090	5302556	59141611	961	20421											
PCSK2	0	.	GRCh38	chr20	17436722	17436722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacaggcatccggatgctgGaccagccattcatgacagac	11	6	10	14	1	1	2	1	1	0	1	2	4	2	4	4	3	2	2	4	3	0	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.724G>T	p.Asp242Tyr	p.D242Y	ENST00000262545	8/12	115	63	52	92	92	0	strelka-varscan-mutect	PCSK2,missense_variant,p.Asp242Tyr,ENST00000262545,NM_002594.4;PCSK2,missense_variant,p.Asp223Tyr,ENST00000377899,NM_001201528.1;PCSK2,missense_variant,p.Asp207Tyr,ENST00000536609,NM_001201529.2;	T	ENST00000262545	Transcript	missense_variant	1039/4740	724/1917	242/638	D/Y	Gac/Tac		1		1	PCSK2	HGNC	HGNC:8744	protein_coding	YES	CCDS13125.1	ENSP00000262545	P16519		UPI0000000C6E	NM_002594.4	deleterious(0)		8/12		Gene3D:3.40.50.200,Pfam_domain:PF00082,hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF11,Superfamily_domains:SSF52743																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	17436722	17436722	G	T	1	0	0	0	0	1	0	0	0	11689	1174	41	2		2	PCSK2	20	17436722	Missense_Mutation	SNP	G	C3N-00580_TP	12134166	17436722	47007445	962	20422											
AL031664.1	0	.	GRCh38	chr20	17508942	17508942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggagagcacctcccggcCctcctccagctgactccgca	6	6	11	18	2	0	2	0	1	0	1	4	3	4	2	6	2	2	3	6	2	0	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.682G>T	p.Gly228Cys	p.G228C	ENST00000377873	5/8	92	80	12	145	144	1	strelka-varscan-mutect	BFSP1,missense_variant,p.Gly228Cys,ENST00000377873,NM_001195.4;BFSP1,missense_variant,p.Gly103Cys,ENST00000377868,NM_001161705.1,NM_001278607.1;AL031664.1,missense_variant,p.Gly89Cys,ENST00000536626,NM_001278606.1,NM_001278608.1;BFSP1,non_coding_transcript_exon_variant,,ENST00000492424,;BFSP1,downstream_gene_variant,,ENST00000473415,;	A	ENST00000377873	Transcript	missense_variant	722/2207	682/1998	228/665	G/C	Ggc/Tgc		1		-1	BFSP1	HGNC	HGNC:1040	protein_coding	YES	CCDS13126.1	ENSP00000367104	Q12934		UPI00001268C7	NM_001195.4	tolerated(0.18)		5/8		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14069,hmmpanther:PTHR14069:SF0,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	17508942	17508942	C	A	1	0	0	0	0	1	0	0	0	568	623	22	2		2	AL031664.1	20	17508942	Missense_Mutation	SNP	C	C3N-00580_TP	72220	17508942	46935225	963	20423											
FAM182B	0	.	GRCh38	chr20	25775005	25775005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccagggctgcgccgcaCaagtggctccagccagccag	7	4	13	17	3	0	0	0	0	0	0	2	0	2	0	6	2	3	3	6	2	1	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.315G>T	p.Leu105Phe	p.L105F	ENST00000376403	3/3	510	430	80	459	458	1	strelka-varscan-mutect	FAM182B,missense_variant,p.Leu105Phe,ENST00000376403,;FAM182B,missense_variant,p.Leu104Phe,ENST00000376404,;FAM182B,downstream_gene_variant,,ENST00000584071,;FAM182B,intron_variant,,ENST00000478164,;FAM182B,intron_variant,,ENST00000485279,;FAM182B,intron_variant,,ENST00000453481,;FAM182B,downstream_gene_variant,,ENST00000582267,;FAM182B,downstream_gene_variant,,ENST00000584356,;	A	ENST00000376403	Transcript	missense_variant	694/1681	315/459	105/152	L/F	ttG/ttT		1		-1	FAM182B	HGNC	HGNC:34503	protein_coding	YES		ENSP00000365585	Q5T319		UPI000047001E		deleterious_low_confidence(0)		3/3																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	25775005	25775005	C	A	1	0	0	0	0	1	0	0	0	5356	477	17	2		2	FAM182B	20	25775005	Missense_Mutation	SNP	C	C3N-00580_TP	8266063	25775005	38669162	964	20424											
COX4I2	0	.	GRCh38	chr20	31639078	31639078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggtggaagacgagggAtgcacagctcagaaggcacc	12	4	17	8	1	1	2	1	0	0	2	1	6	1	5	1	5	2	3	1	5	2	0	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.61A>G	p.Met21Val	p.M21V	ENST00000376075	2/5	657	522	135	631	631	0	strelka-varscan-mutect	COX4I2,missense_variant,p.Met21Val,ENST00000376075,NM_032609.2;COX4I2,non_coding_transcript_exon_variant,,ENST00000490030,;	G	ENST00000376075	Transcript	missense_variant	136/693	61/516	21/171	M/V	Atg/Gtg		1		1	COX4I2	HGNC	HGNC:16232	protein_coding	YES	CCDS13187.1	ENSP00000365243	Q96KJ9	H6SG14	UPI000013CDC9	NM_032609.2	tolerated(0.47)		2/5		hmmpanther:PTHR10707,hmmpanther:PTHR10707:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	31639078	31639078	A	G	1	0	0	0	0	1	0	0	0	3566	333	12	5		5	COX4I2	20	31639078	Missense_Mutation	SNP	A	C3N-00580_TP	5864073	31639078	32805089	965	20425											
CCM2L	0	.	GRCh38	chr20	32022750	32022750	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtgtggaccgggctggcTaccactacacatccacacct	9	8	10	14	1	0	0	0	0	0	0	1	1	1	1	4	3	2	2	4	3	2	2	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.1024T>A	p.Tyr342Asn	p.Y342N	ENST00000262659	6/9	289	234	55	312	312	0	strelka-varscan-mutect	CCM2L,missense_variant,p.Tyr342Asn,ENST00000262659,NM_080625.3;CCM2L,missense_variant,p.Tyr95Asn,ENST00000452892,;	A	ENST00000262659	Transcript	missense_variant	1029/2523	1024/1302	342/433	Y/N	Tac/Aac		1		1	CCM2L	HGNC	HGNC:16153	protein_coding	YES	CCDS13195.1	ENSP00000262659	Q9NUG4		UPI0000070921	NM_080625.3	deleterious(0)		6/9		hmmpanther:PTHR21642:SF2,hmmpanther:PTHR21642																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	32022750	32022750	T	A	1	0	0	0	0	1	0	0	0	2607	1522	53	4		4	CCM2L	20	32022750	Missense_Mutation	SNP	T	C3N-00580_TP	383672	32022750	32421417	966	20426											
SUN5	0	.	GRCh38	chr20	32996329	32996329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagattcctcttacctcaaGctctgcagtggaccatttat	10	13	7	11	0	3	1	1	0	2	1	4	3	4	2	3	1	3	2	3	1	4	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.420C>A	p.Ser140Arg	p.S140R	ENST00000356173	7/13	132	96	36	112	112	0	strelka-varscan-mutect	SUN5,missense_variant,p.Ser140Arg,ENST00000356173,NM_080675.3;SUN5,missense_variant,p.Ser115Arg,ENST00000375523,;SUN5,downstream_gene_variant,,ENST00000420875,;SUN5,downstream_gene_variant,,ENST00000375519,;	T	ENST00000356173	Transcript	missense_variant	513/1254	420/1140	140/379	S/R	agC/agA		1		-1	SUN5	HGNC	HGNC:16252	protein_coding	YES	CCDS13209.1	ENSP00000348496	Q8TC36		UPI0000135D7C	NM_080675.3	tolerated(0.33)		7/13		hmmpanther:PTHR12911,hmmpanther:PTHR12911:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	32996329	32996329	G	T	1	0	0	0	0	1	0	0	0	15780	985	34	2		2	SUN5	20	32996329	Missense_Mutation	SNP	G	C3N-00580_TP	973579	32996329	31447838	967	20427											
CHMP4B	0	.	GRCh38	chr20	33848500	33848500	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgaagcgtaagaagaggtAtgagaagcagctggcgcaga	15	5	15	6	2	0	5	0	2	0	4	0	6	0	5	0	2	3	5	0	2	5	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.224A>G	p.Tyr75Cys	p.Y75C	ENST00000217402	2/5	591	558	33	560	560	0	varscan-mutect	CHMP4B,missense_variant,p.Tyr75Cys,ENST00000217402,NM_176812.4;	G	ENST00000217402	Transcript	missense_variant	389/1646	224/675	75/224	Y/C	tAt/tGt		1		1	CHMP4B	HGNC	HGNC:16171	protein_coding	YES	CCDS13228.1	ENSP00000217402	Q9H444		UPI0000128625	NM_176812.4	deleterious(0.02)		2/5		hmmpanther:PTHR22761,hmmpanther:PTHR22761:SF4,Pfam_domain:PF03357																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	33848500	33848500	A	G	1	0	0	0	0	1	0	0	0	3117	449	16	5		5	CHMP4B	20	33848500	Missense_Mutation	SNP	A	C3N-00580_TP	852171	33848500	30595667	968	20428											
NDRG3	0	.	GRCh38	chr20	36688684	36688684	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataaaatacatacggttgAggccaatgtcatgatatgtt	16	12	8	5	1	1	2	1	2	0	0	1	2	1	2	1	2	2	2	1	2	7	6	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.194T>A	p.Leu65His	p.L65H	ENST00000349004	4/16	186	128	58	160	160	0	strelka-varscan-mutect	NDRG3,missense_variant,p.Leu65His,ENST00000373803,;NDRG3,missense_variant,p.Leu65His,ENST00000349004,NM_032013.3;NDRG3,missense_variant,p.Leu53His,ENST00000359675,NM_022477.3;NDRG3,missense_variant,p.Leu56His,ENST00000422536,;NDRG3,intron_variant,,ENST00000373773,;	T	ENST00000349004	Transcript	missense_variant	276/2964	194/1128	65/375	L/H	cTc/cAc		1		-1	NDRG3	HGNC	HGNC:14462	protein_coding	YES	CCDS13285.1	ENSP00000345292	Q9UGV2		UPI000012FEDF	NM_032013.3	deleterious(0)		4/16		hmmpanther:PTHR11034,hmmpanther:PTHR11034:SF20,Gene3D:3.40.50.1820,Pfam_domain:PF03096,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	36688684	36688684	A	T	1	0	0	0	0	1	0	0	0	10274	318	11	4		4	NDRG3	20	36688684	Missense_Mutation	SNP	A	C3N-00580_TP	2840184	36688684	27755483	969	20429											
PTPRT	0	.	GRCh38	chr20	42199346	42199346	+	Frame_Shift_Del	DEL	C	C	-																															gccacaggccccatctccctCtgggctccactctgggtctc																								novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2442delG	p.Arg815GlyfsTer63	p.R815Gfs*63	ENST00000373198	17/32	171	132	39	193	193	0	sindel-varindel	PTPRT,frameshift_variant,p.Arg815GlyfsTer63,ENST00000373198,NM_133170.3;PTPRT,frameshift_variant,p.Arg818GlyfsTer63,ENST00000373193,;PTPRT,frameshift_variant,p.Arg786GlyfsTer63,ENST00000373201,;PTPRT,frameshift_variant,p.Arg796GlyfsTer62,ENST00000373190,;PTPRT,frameshift_variant,p.Arg786GlyfsTer63,ENST00000373184,;PTPRT,frameshift_variant,p.Arg805GlyfsTer63,ENST00000356100,;PTPRT,frameshift_variant,p.Arg796GlyfsTer63,ENST00000373187,NM_007050.5;PTPRT,frameshift_variant,p.Arg414GlyfsTer63,ENST00000612229,;PTPRT,frameshift_variant,p.Arg431GlyfsTer63,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	-	ENST00000373198	Transcript	frameshift_variant	2678/12746	2442/4383	814/1460	Q/X	caG/ca		1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3			17/32		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	62	42199346	42199346	C	-	1	0	1	0	1	0	0	0	0	12967	912	32	0		0	PTPRT	20	42199346	Frame_Shift_Del	DEL	C	C3N-00580_TP	5510662	42199346	22244821	970	20430	432	2									
PTPRT	0	.	GRCh38	chr20	42199348	42199348	+	Missense_Mutation	SNP	G	G	T																															cacaggccccatctccctctGggctccactctgggtctcct																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2440C>A	p.Gln814Lys	p.Q814K	ENST00000373198	17/32	189	149	40	185	185	0	strelka-mutect	PTPRT,missense_variant,p.Gln814Lys,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Gln817Lys,ENST00000373193,;PTPRT,missense_variant,p.Gln785Lys,ENST00000373201,;PTPRT,missense_variant,p.Gln795Lys,ENST00000373190,;PTPRT,missense_variant,p.Gln785Lys,ENST00000373184,;PTPRT,missense_variant,p.Gln804Lys,ENST00000356100,;PTPRT,missense_variant,p.Gln795Lys,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Gln413Lys,ENST00000612229,;PTPRT,missense_variant,p.Gln430Lys,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	T	ENST00000373198	Transcript	missense_variant	2676/12746	2440/4383	814/1460	Q/K	Cag/Aag		1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	deleterious(0.04)		17/32		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	62	42199348	42199348	G	T	1	0	0	0	0	1	0	0	0	12967	1357	47	2		2	PTPRT	20	42199348	Missense_Mutation	SNP	G	C3N-00580_TP	2	42199348	22244819	971	20431	432	2									
R3HDML	0	.	GRCh38	chr20	44341202	44341202	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttctttccccaggtctggGacaagcggctggccagggct	5	10	13	13	1	2	0	0	0	2	0	3	1	3	1	3	5	1	2	3	5	1	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.268G>T	p.Asp90Tyr	p.D90Y	ENST00000217043	2/5	74	47	27	92	92	0	strelka-varscan-mutect	R3HDML,missense_variant,p.Asp90Tyr,ENST00000217043,NM_178491.3;Y_RNA,upstream_gene_variant,,ENST00000364493,;	T	ENST00000217043	Transcript	missense_variant	440/1377	268/762	90/253	D/Y	Gac/Tac		1		1	R3HDML	HGNC	HGNC:16249	protein_coding	YES	CCDS13329.1	ENSP00000217043	Q9H3Y0		UPI00000422F8	NM_178491.3	deleterious(0)		2/5		Gene3D:3.40.33.10,Pfam_domain:PF00188,Prints_domain:PR00837,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF62,SMART_domains:SM00198,Superfamily_domains:SSF55797																	MODERATE	1	SNV	1			1										PASS		rs1344132303	.												T	3	4	62	44341202	44341202	G	T	1	0	0	0	0	1	0	0	0	13047	1174	41	2		2	R3HDML	20	44341202	Missense_Mutation	SNP	G	C3N-00580_TP	2141854	44341202	20102965	972	20432											
OCSTAMP	0	.	GRCh38	chr20	46546121	46546121	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggccacagacagtggCaaccatggctgaaggtccag	12	4	14	11	0	0	2	0	1	0	1	1	3	1	3	3	5	1	2	3	5	2	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.253G>C	p.Ala85Pro	p.A85P	ENST00000279028	2/3	580	443	137	563	563	0	strelka-varscan-mutect	OCSTAMP,missense_variant,p.Ala85Pro,ENST00000279028,NM_080721.2;	G	ENST00000279028	Transcript	missense_variant	267/2043	253/1701	85/566	A/P	Gcc/Ccc		1		-1	OCSTAMP	HGNC	HGNC:16116	protein_coding	YES	CCDS54468.1	ENSP00000279028	Q9BR26		UPI00006C1A90	NM_080721.2	deleterious(0)		2/3		hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF3,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		rs1001843150	.												G	3	3	62	46546121	46546121	C	G	1	0	0	0	0	1	0	0	0	10901	710	25	4		4	OCSTAMP	20	46546121	Missense_Mutation	SNP	C	C3N-00580_TP	2204919	46546121	17898046	973	20433											
TSHZ2	0	.	GRCh38	chr20	53253667	53253667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagctaccagaactctcCaggaagtcatttgtccaatc	11	11	6	13	0	3	1	2	0	1	1	6	2	4	2	3	1	3	1	3	1	4	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.209C>A	p.Pro70Gln	p.P70Q	ENST00000371497	2/3	177	133	44	125	125	0	strelka-varscan-mutect	TSHZ2,missense_variant,p.Pro70Gln,ENST00000371497,NM_173485.5;TSHZ2,missense_variant,p.Pro67Gln,ENST00000603338,NM_001193421.1;TSHZ2,missense_variant,p.Pro67Gln,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	A	ENST00000371497	Transcript	missense_variant	1096/12187	209/3105	70/1034	P/Q	cCa/cAa		1		1	TSHZ2	HGNC	HGNC:13010	protein_coding	YES	CCDS33490.1	ENSP00000360552	Q9NRE2		UPI0000206747	NM_173485.5	deleterious(0)		2/3		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF3																	MODERATE	1	SNV	1			1										PASS		rs1204884160	.												A	3	1	62	53253667	53253667	C	A	1	0	0	0	0	1	0	0	0	17129	594	21	2		2	TSHZ2	20	53253667	Missense_Mutation	SNP	C	C3N-00580_TP	6707546	53253667	11190500	974	20434											
PCK1	0	.	GRCh38	chr20	57561531	57561531	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgctgagctgtgtcagccTgatcacatccacatctgtga	10	10	9	12	1	3	3	2	3	1	0	4	3	4	3	2	0	3	2	2	0	1	0	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.120T>A	p.=	p.P40P	ENST00000319441	2/10	397	294	103	388	388	0	strelka-varscan-mutect	PCK1,synonymous_variant,p.=,ENST00000319441,NM_002591.3;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,non_coding_transcript_exon_variant,,ENST00000475833,;PCK1,upstream_gene_variant,,ENST00000498194,;PCK1,upstream_gene_variant,,ENST00000485958,;PCK1,upstream_gene_variant,,ENST00000470051,;	A	ENST00000319441	Transcript	synonymous_variant	284/4341	120/1869	40/622	P	ccT/ccA		1		1	PCK1	HGNC	HGNC:8724	protein_coding	YES	CCDS13460.1	ENSP00000319814	P35558		UPI000013CB5A	NM_002591.3			2/10		HAMAP:MF_00452,hmmpanther:PTHR11561:SF1,hmmpanther:PTHR11561,Pfam_domain:PF00821,Gene3D:3.40.449.10,PIRSF_domain:PIRSF001348,Superfamily_domains:SSF68923																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	57561531	57561531	T	A	1	0	0	0	0	0	0	0	1	11669	1567	55	4		4	PCK1	20	57561531	Silent	SNP	T	C3N-00580_TP	4307864	57561531	6882636	975	20435											
ZBP1	0	.	GRCh38	chr20	57614951	57614951	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agaaggtgcctgctcttcatCctgtacaagtctcggttcac	8	12	9	12	1	4	1	2	0	2	1	6	1	5	1	2	2	3	3	2	2	3	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.438G>C	p.Arg146Ser	p.R146S	ENST00000371173	4/8	318	209	109	356	356	0	strelka-varscan-mutect	ZBP1,missense_variant,p.Arg146Ser,ENST00000371173,NM_001160417.1,NM_030776.2;ZBP1,missense_variant,p.Arg71Ser,ENST00000395822,NM_001160418.1;ZBP1,missense_variant,p.Arg146Ser,ENST00000541799,NM_001160419.2;ZBP1,upstream_gene_variant,,ENST00000453793,;ZBP1,non_coding_transcript_exon_variant,,ENST00000546110,;ZBP1,downstream_gene_variant,,ENST00000538947,;ZBP1,downstream_gene_variant,,ENST00000432548,;ZBP1,non_coding_transcript_exon_variant,,ENST00000461547,;ZBP1,non_coding_transcript_exon_variant,,ENST00000480037,;	G	ENST00000371173	Transcript	missense_variant	616/2195	438/1290	146/429	R/S	agG/agC		1		-1	ZBP1	HGNC	HGNC:16176	protein_coding	YES	CCDS13461.1	ENSP00000360215	Q9H171		UPI000013CB5B	NM_001160417.1,NM_030776.2	tolerated(0.64)		4/8		Gene3D:1.10.10.10,hmmpanther:PTHR14966,SMART_domains:SM00550,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	62	57614951	57614951	C	G	1	0	0	0	0	1	0	0	0	18087	854	30	4		4	ZBP1	20	57614951	Missense_Mutation	SNP	C	C3N-00580_TP	53420	57614951	6829216	976	20436											
ZNF831	0	.	GRCh38	chr20	59192751	59192751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcacccccattggcgatGccctggtgcccgcagaggac	7	5	13	16	2	0	1	0	0	0	1	0	3	0	2	4	4	2	2	4	4	0	1	rs773637126		C3N-00580_TP	C3N-00580_NB	G	G																c.1732G>A	p.Ala578Thr	p.A578T	ENST00000637017	4/8	110	90	20	129	129	0	strelka-varscan-mutect	ZNF831,missense_variant,p.Ala578Thr,ENST00000637017,;ZNF831,missense_variant,p.Ala578Thr,ENST00000371030,NM_178457.2;	A	ENST00000637017	Transcript	missense_variant	3281/10953	1732/5034	578/1677	A/T	Gcc/Acc	rs773637126	1		1	ZNF831	HGNC	HGNC:16167	protein_coding	YES	CCDS42894.1	ENSP00000490240			UPI00001D82E4		tolerated(0.77)		4/8		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52																	MODERATE	1	SNV				1										PASS		rs773637126	.												A	3	1	62	59192751	59192751	G	A	1	0	0	0	0	1	0	0	0	18770	1319	46	3		3	ZNF831	20	59192751	Missense_Mutation	SNP	G	C3N-00580_TP	1577800	59192751	5251416	977	20437											
EDN3	0	.	GRCh38	chr20	59301449	59301449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggggatgctggcaggcGcggcgtgtcccaggccccca	4	6	17	14	3	1	0	0	0	1	0	2	1	2	1	3	6	1	2	3	6	0	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.92G>T	p.Arg31Leu	p.R31L	ENST00000337938	2/5	432	346	86	317	317	0	strelka-varscan-mutect	EDN3,missense_variant,p.Arg31Leu,ENST00000311585,NM_207032.2;EDN3,missense_variant,p.Arg31Leu,ENST00000337938,NM_001302455.1,NM_207034.2;EDN3,missense_variant,p.Arg31Leu,ENST00000371028,;EDN3,missense_variant,p.Arg31Leu,ENST00000395654,NM_207033.2;EDN3,missense_variant,p.Arg31Leu,ENST00000371025,NM_001302456.1;	T	ENST00000337938	Transcript	missense_variant	478/2636	92/717	31/238	R/L	cGc/cTc		1		1	EDN3	HGNC	HGNC:3178	protein_coding	YES	CCDS13477.1	ENSP00000337128	P14138		UPI000012A221	NM_001302455.1,NM_207034.2	tolerated(0.12)		2/5		hmmpanther:PTHR13874,hmmpanther:PTHR13874:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	59301449	59301449	G	T	1	0	0	0	0	1	0	0	0	4746	1087	38	1		1	EDN3	20	59301449	Missense_Mutation	SNP	G	C3N-00580_TP	108698	59301449	5142718	978	20438											
SYCP2	0	.	GRCh38	chr20	59893192	59893192	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaatctggtataacatcctgGagttcacctaaataaaacaa	17	10	6	8	0	2	0	1	0	1	0	3	2	3	1	2	2	2	2	2	2	8	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1743C>T	p.=	p.L581L	ENST00000357552	22/45	99	81	18	197	197	0	strelka-varscan-mutect	SYCP2,synonymous_variant,p.=,ENST00000357552,;SYCP2,synonymous_variant,p.=,ENST00000371001,NM_014258.2;SYCP2,synonymous_variant,p.=,ENST00000446834,;	A	ENST00000357552	Transcript	synonymous_variant	1969/5567	1743/4593	581/1530	L	ctC/ctT		1		-1	SYCP2	HGNC	HGNC:11490	protein_coding	YES	CCDS13482.1	ENSP00000350162	Q9BX26		UPI0000135683				22/45		hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	59893192	59893192	G	A	1	0	0	0	0	0	0	0	1	15822	1161	41	3		3	SYCP2	20	59893192	Silent	SNP	G	C3N-00580_TP	591743	59893192	4550975	979	20439											
CDH4	0	.	GRCh38	chr20	61844805	61844805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaggcccatggaccgggaGgagcacgcctcttaccacgt	10	5	12	14	3	1	0	0	0	1	0	1	3	1	3	4	4	2	1	4	4	2	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.714G>A	p.=	p.E238E	ENST00000614565	5/16	101	84	17	126	126	0	strelka-varscan-mutect	CDH4,synonymous_variant,p.=,ENST00000614565,NM_001794.4;CDH4,synonymous_variant,p.=,ENST00000611855,;CDH4,synonymous_variant,p.=,ENST00000543233,NM_001252338.2,NM_001252339.2;	A	ENST00000614565	Transcript	synonymous_variant	802/6513	714/2751	238/916	E	gaG/gaA		1		1	CDH4	HGNC	HGNC:1763	protein_coding	YES	CCDS13488.1	ENSP00000484928	P55283		UPI000015FE86	NM_001794.4			5/16		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF81,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	61844805	61844805	G	A	1	0	0	0	0	0	0	0	1	2815	991	35	3		3	CDH4	20	61844805	Silent	SNP	G	C3N-00580_TP	1951613	61844805	2599362	980	20440											
HRH3	0	.	GRCh38	chr20	62216855	62216855	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggtccgtacagcaggaaGgccagcacccacaccagcag	11	3	12	15	1	0	0	0	0	0	0	1	1	1	1	4	3	4	5	4	3	2	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.489C>G	p.=	p.A163A	ENST00000340177	3/3	164	113	51	172	172	0	strelka-varscan-mutect	HRH3,synonymous_variant,p.=,ENST00000340177,NM_007232.2;HRH3,synonymous_variant,p.=,ENST00000317393,;HRH3,synonymous_variant,p.=,ENST00000611492,;	C	ENST00000340177	Transcript	synonymous_variant	774/2659	489/1338	163/445	A	gcC/gcG		1		-1	HRH3	HGNC	HGNC:5184	protein_coding	YES	CCDS13493.1	ENSP00000342560	Q9Y5N1		UPI000012C6ED	NM_007232.2			3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF292,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	62	62216855	62216855	G	C	1	0	0	0	0	0	0	0	1	7252	987	35	4		4	HRH3	20	62216855	Silent	SNP	G	C3N-00580_TP	372050	62216855	2227312	981	20441											
OSBPL2	0	.	GRCh38	chr20	62272252	62272252	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagccccagcccctggagaGgatgcaggtgggccttaggg	7	5	16	13	0	0	1	0	0	0	1	0	3	0	2	6	5	3	1	6	5	1	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.386G>T	p.Arg129Met	p.R129M	ENST00000313733	5/14	183	137	46	213	213	0	strelka-varscan-mutect	OSBPL2,missense_variant,p.Arg129Met,ENST00000313733,NM_144498.2;OSBPL2,missense_variant,p.Arg117Met,ENST00000358053,NM_014835.3;OSBPL2,missense_variant,p.Arg37Met,ENST00000439951,NM_001278649.1;OSBPL2,missense_variant,p.Arg129Met,ENST00000622332,;OSBPL2,upstream_gene_variant,,ENST00000448156,;OSBPL2,upstream_gene_variant,,ENST00000618198,;	T	ENST00000313733	Transcript	missense_variant	627/4009	386/1443	129/480	R/M	aGg/aTg		1		1	OSBPL2	HGNC	HGNC:15761	protein_coding	YES	CCDS13495.1	ENSP00000316649	Q9H1P3		UPI0000130E96	NM_144498.2	deleterious(0)		5/14		Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF54																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	62272252	62272252	G	T	1	0	0	0	0	1	0	0	0	11344	1000	35	2		2	OSBPL2	20	62272252	Missense_Mutation	SNP	G	C3N-00580_TP	55397	62272252	2171915	982	20442											
LAMA5	0	.	GRCh38	chr20	62311309	62311309	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggctgcggcgggaggccTgggggcgtggatggtgaatg	5	6	23	7	4	0	1	0	1	0	0	0	4	0	3	1	8	1	1	1	8	1	0	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.9943-2A>T		p.X3315_splice	ENST00000252999		52	42	10	73	73	0	strelka-varscan-mutect	LAMA5,splice_acceptor_variant,,ENST00000252999,NM_005560.4;ADRM1,downstream_gene_variant,,ENST00000491935,;ADRM1,downstream_gene_variant,,ENST00000253003,NM_007002.3,NM_175573.2;ADRM1,downstream_gene_variant,,ENST00000620230,NM_001281437.1,NM_001281438.1;ADRM1,downstream_gene_variant,,ENST00000462554,;RP11-157P1.4,upstream_gene_variant,,ENST00000414042,;LAMA5,upstream_gene_variant,,ENST00000492698,;ADRM1,downstream_gene_variant,,ENST00000465805,;LAMA5,splice_acceptor_variant,,ENST00000370691,;LAMA5,splice_acceptor_variant,,ENST00000462415,;LAMA5,upstream_gene_variant,,ENST00000495695,;LAMA5,downstream_gene_variant,,ENST00000491036,;LAMA5,downstream_gene_variant,,ENST00000471042,;LAMA5,downstream_gene_variant,,ENST00000468786,;	A	ENST00000252999	Transcript	splice_acceptor_variant	-/11426	9943/11088	3315/3695				1		-1	LAMA5	HGNC	HGNC:6485	protein_coding	YES	CCDS33502.1	ENSP00000252999	O15230		UPI0000161FDC	NM_005560.4				72/79																		HIGH	1	SNV	1			1										PASS		rs1298371783	.												A	5	1	62	62311309	62311309	T	A	1	0	0	0	0	0	0	1	0	8513	1594	55	4		4	LAMA5	20	62311309	Splice_Site	SNP	T	C3N-00580_TP	39057	62311309	2132858	983	20443											
SLCO4A1	0	.	GRCh38	chr20	62656646	62656646	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctctgccagctctgggcCgagaagcatggcgcccgggg	5	5	15	16	3	2	1	0	0	2	1	2	2	2	1	5	4	3	2	5	4	1	0	rs781134379		C3N-00580_TP	C3N-00580_NB	C	C																c.192C>A	p.=	p.A64A	ENST00000217159	2/12	326	263	63	364	364	0	strelka-varscan-mutect	SLCO4A1,synonymous_variant,p.=,ENST00000217159,NM_016354.3;SLCO4A1,synonymous_variant,p.=,ENST00000370507,;RP11-93B14.10,upstream_gene_variant,,ENST00000620143,;SLCO4A1,synonymous_variant,p.=,ENST00000497209,;	A	ENST00000217159	Transcript	synonymous_variant	397/2776	192/2169	64/722	A	gcC/gcA	rs781134379	1		1	SLCO4A1	HGNC	HGNC:10953	protein_coding	YES	CCDS13501.1	ENSP00000217159	Q96BD0		UPI00000557C6	NM_016354.3			2/12		hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF100																	LOW	1	SNV	1			1										PASS		rs781134379	.												A	2	1	62	62656646	62656646	C	A	1	0	0	0	0	0	0	0	1	15016	639	23	1		1	SLCO4A1	20	62656646	Silent	SNP	C	C3N-00580_TP	345337	62656646	1787521	984	20444											
KCNQ2	0	.	GRCh38	chr20	63406667	63406667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctgggcccggcccagcCcacgtcaccaaagggaccct	7	5	10	19	2	1	0	1	0	0	0	2	1	2	1	6	3	1	0	6	3	1	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2596G>T	p.Gly866Cys	p.G866C	ENST00000359125	17/17	173	106	67	198	197	1	strelka-varscan-mutect	KCNQ2,missense_variant,p.Gly848Cys,ENST00000626839,NM_172106.1;KCNQ2,missense_variant,p.Gly866Cys,ENST00000359125,NM_172107.2;KCNQ2,missense_variant,p.Gly665Cys,ENST00000637193,;KCNQ2,missense_variant,p.Gly838Cys,ENST00000360480,NM_004518.4;KCNQ2,missense_variant,p.Gly835Cys,ENST00000344462,NM_172108.3;KCNQ2,missense_variant,p.Gly722Cys,ENST00000357249,;KCNQ2,intron_variant,,ENST00000370224,;KCNQ2,intron_variant,,ENST00000625514,;KCNQ2,intron_variant,,ENST00000629241,;KCNQ2,intron_variant,,ENST00000629676,;KCNQ2,downstream_gene_variant,,ENST00000636614,;KCNQ2,downstream_gene_variant,,ENST00000637063,;KCNQ2,downstream_gene_variant,,ENST00000637338,;KCNQ2,downstream_gene_variant,,ENST00000637656,;	A	ENST00000359125	Transcript	missense_variant	2723/3253	2596/2619	866/872	G/C	Ggc/Tgc		1		-1	KCNQ2	HGNC	HGNC:6296	protein_coding	YES	CCDS13520.1	ENSP00000352035	O43526		UPI00001279ED	NM_172107.2	tolerated_low_confidence(0.1)		17/17		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF6,Pfam_domain:PF11956																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	63406667	63406667	C	A	1	0	0	0	0	1	0	0	0	7999	623	22	2		2	KCNQ2	20	63406667	Missense_Mutation	SNP	C	C3N-00580_TP	750021	63406667	1037500	985	20445											
KCNQ2	0	.	GRCh38	chr20	63407017	63407017	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaggcggacagcgaccgcTcgtgggcaggcggcggcggg	5	3	21	12	8	0	0	0	0	0	0	1	2	0	1	1	7	1	3	1	7	1	1	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.2246A>T	p.Glu749Val	p.E749V	ENST00000359125	17/17	68	38	30	83	83	0	strelka-varscan-mutect	KCNQ2,missense_variant,p.Glu731Val,ENST00000626839,NM_172106.1;KCNQ2,missense_variant,p.Glu749Val,ENST00000359125,NM_172107.2;KCNQ2,missense_variant,p.Glu548Val,ENST00000637193,;KCNQ2,missense_variant,p.Glu721Val,ENST00000360480,NM_004518.4;KCNQ2,missense_variant,p.Glu718Val,ENST00000344462,NM_172108.3;KCNQ2,missense_variant,p.Glu605Val,ENST00000357249,;KCNQ2,intron_variant,,ENST00000370224,;KCNQ2,intron_variant,,ENST00000625514,;KCNQ2,intron_variant,,ENST00000629241,;KCNQ2,intron_variant,,ENST00000629676,;KCNQ2,downstream_gene_variant,,ENST00000636614,;KCNQ2,downstream_gene_variant,,ENST00000637063,;KCNQ2,downstream_gene_variant,,ENST00000637338,;KCNQ2,downstream_gene_variant,,ENST00000637656,;	A	ENST00000359125	Transcript	missense_variant	2373/3253	2246/2619	749/872	E/V	gAg/gTg		1		-1	KCNQ2	HGNC	HGNC:6296	protein_coding	YES	CCDS13520.1	ENSP00000352035	O43526		UPI00001279ED	NM_172107.2	deleterious(0.05)		17/17		Pfam_domain:PF16642																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	63407017	63407017	T	A	1	0	0	0	0	1	0	0	0	7999	1551	54	4		4	KCNQ2	20	63407017	Missense_Mutation	SNP	T	C3N-00580_TP	350	63407017	1037150	986	20446											
PCMTD2	0	.	GRCh38	chr20	64260260	64260260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtatctcagctccatggtgGgcctcattctaggtaagtgt	7	13	12	9	0	3	0	2	0	2	0	5	0	4	0	2	4	1	3	2	4	3	4	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.295G>T	p.Gly99Cys	p.G99C	ENST00000308824	2/6	127	101	26	134	134	0	strelka-varscan-mutect	PCMTD2,missense_variant,p.Gly99Cys,ENST00000308824,NM_018257.2;PCMTD2,missense_variant,p.Gly99Cys,ENST00000369758,NM_001104925.1;PCMTD2,missense_variant,p.Gly99Cys,ENST00000299468,;PCMTD2,missense_variant,p.Gly99Cys,ENST00000609764,;PCMTD2,missense_variant,p.Gly99Cys,ENST00000610074,;PCMTD2,intron_variant,,ENST00000609372,;PCMTD2,downstream_gene_variant,,ENST00000610196,;PCMTD2,downstream_gene_variant,,ENST00000609297,;PCMTD2,missense_variant,p.Gly60Cys,ENST00000608844,;	T	ENST00000308824	Transcript	missense_variant	422/3843	295/1086	99/361	G/C	Ggc/Tgc		1		1	PCMTD2	HGNC	HGNC:15882	protein_coding	YES	CCDS13559.1	ENSP00000307854	Q9NV79		UPI0000049C88	NM_018257.2	deleterious(0.01)		2/6		Gene3D:3.40.50.150,Pfam_domain:PF01135,hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF2,Superfamily_domains:SSF53335																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	62	64260260	64260260	G	T	1	0	0	0	0	1	0	0	0	11675	1232	43	2		2	PCMTD2	20	64260260	Missense_Mutation	SNP	G	C3N-00580_TP	853243	64260260	183907	987	20447											
HSPA13	0	.	GRCh38	chr21	14373727	14373727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatagccactcccgttactaCtgctaggtcagggtctacag	9	10	10	12	1	2	0	1	0	1	0	3	1	3	0	2	2	5	2	2	2	5	5	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1306G>T	p.Val436Leu	p.V436L	ENST00000285667	5/5	333	156	177	287	287	0	strelka-varscan-mutect	HSPA13,missense_variant,p.Val436Leu,ENST00000285667,NM_006948.4;HSPA13,downstream_gene_variant,,ENST00000478035,;	A	ENST00000285667	Transcript	missense_variant	1374/3986	1306/1416	436/471	V/L	Gta/Tta		1		-1	HSPA13	HGNC	HGNC:11375	protein_coding	YES	CCDS13567.1	ENSP00000285667	P48723	A0A140VK72	UPI00001360C2	NM_006948.4	deleterious(0)		5/5		hmmpanther:PTHR19375:SF169,hmmpanther:PTHR19375,Pfam_domain:PF00012,Superfamily_domains:SSF53067,Prints_domain:PR00301																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	14373727	14373727	C	A	1	0	0	0	0	1	0	0	0	7302	565	20	2		2	HSPA13	21	14373727	Missense_Mutation	SNP	C	C3N-00580_TP		14373727	32336256	988	20448											
SYNJ1	0	.	GRCh38	chr21	32727975	32727975	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggctcctcctcctccttctCccgcagccgccgccacagcc	3	7	7	24	4	1	0	0	0	1	0	6	0	5	0	9	1	2	2	9	1	0	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.66G>T	p.=	p.G22G	ENST00000433931	1/32	257	220	37	350	350	0	strelka-varscan-mutect	SYNJ1,synonymous_variant,p.=,ENST00000382499,NM_203446.2;SYNJ1,synonymous_variant,p.=,ENST00000433931,NM_003895.3;SYNJ1,5_prime_UTR_variant,,ENST00000382491,;SYNJ1,upstream_gene_variant,,ENST00000357345,NM_001160302.1;SYNJ1,upstream_gene_variant,,ENST00000630077,NM_001160306.1;SYNJ1,upstream_gene_variant,,ENST00000429236,;SYNJ1,upstream_gene_variant,,ENST00000456084,;PAXBP1-AS1,upstream_gene_variant,,ENST00000440052,;PAXBP1-AS1,upstream_gene_variant,,ENST00000458479,;PAXBP1-AS1,upstream_gene_variant,,ENST00000455170,;	A	ENST00000433931	Transcript	synonymous_variant	74/4852	66/4839	22/1612	G	ggG/ggT		1		-1	SYNJ1	HGNC	HGNC:11503	protein_coding	YES	CCDS33539.2	ENSP00000409667		J3KQV8	UPI0001A47572	NM_003895.3			1/32		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1427487040	.												A	2	1	62	32727975	32727975	C	A	1	0	0	0	0	0	0	0	1	15846	842	30	2		2	SYNJ1	21	32727975	Silent	SNP	C	C3N-00580_TP	18354248	32727975	13982008	989	20449											
DOPEY2	0	.	GRCh38	chr21	36245588	36245588	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcggacttggagctccAggccctcaccacatccaggc	8	5	13	15	1	1	0	1	0	0	0	3	3	3	3	4	6	1	1	4	6	0	1	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.3608A>T	p.Gln1203Leu	p.Q1203L	ENST00000399151	19/37	172	78	94	167	165	2	strelka-varscan-mutect	DOPEY2,missense_variant,p.Gln1203Leu,ENST00000399151,NM_001320714.1,NM_005128.3;DOPEY2,upstream_gene_variant,,ENST00000463668,;	T	ENST00000399151	Transcript	missense_variant	3693/7685	3608/6897	1203/2298	Q/L	cAg/cTg		1		1	DOPEY2	HGNC	HGNC:1291	protein_coding	YES	CCDS13643.1	ENSP00000382104	Q9Y3R5		UPI000013D876	NM_001320714.1,NM_005128.3	deleterious(0)		19/37		hmmpanther:PTHR14042,hmmpanther:PTHR14042:SF23																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	36245588	36245588	A	T	1	0	0	0	0	1	0	0	0	4522	188	7	4		4	DOPEY2	21	36245588	Missense_Mutation	SNP	A	C3N-00580_TP	3517613	36245588	10464395	990	20450											
DOPEY2	0	.	GRCh38	chr21	36246408	36246408	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagtggcagagagccctGaacttccagcaggccatcag	10	5	14	12	1	1	2	1	1	0	1	2	4	2	3	3	3	3	2	3	3	1	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.4428G>T	p.=	p.L1476L	ENST00000399151	19/37	238	113	125	264	264	0	strelka-varscan-mutect	DOPEY2,synonymous_variant,p.=,ENST00000399151,NM_001320714.1,NM_005128.3;DOPEY2,non_coding_transcript_exon_variant,,ENST00000463668,;	T	ENST00000399151	Transcript	synonymous_variant	4513/7685	4428/6897	1476/2298	L	ctG/ctT		1		1	DOPEY2	HGNC	HGNC:1291	protein_coding	YES	CCDS13643.1	ENSP00000382104	Q9Y3R5		UPI000013D876	NM_001320714.1,NM_005128.3			19/37		hmmpanther:PTHR14042,hmmpanther:PTHR14042:SF23																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	36246408	36246408	G	T	1	0	0	0	0	0	0	0	1	4522	1277	45	2		2	DOPEY2	21	36246408	Silent	SNP	G	C3N-00580_TP	820	36246408	10463575	991	20451											
KRTAP10-2	0	.	GRCh38	chr21	44551122	44551122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaagccccacagcagaCgggcacacagcacacaggct	14	2	11	14	1	0	3	0	1	0	2	0	3	0	3	2	2	3	4	2	2	2	0	rs587678058		C3N-00580_TP	C3N-00580_NB	C	C																c.337G>T	p.Val113Phe	p.V113F	ENST00000391621	1/1	885	423	462	1017	1016	1	strelka-varscan-mutect	KRTAP10-2,missense_variant,p.Val113Phe,ENST00000391621,NM_198693.3;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000397916,;KRTAP10-2,intron_variant,,ENST00000498210,;	A	ENST00000391621	Transcript	missense_variant	384/1149	337/768	113/255	V/F	Gtc/Ttc	rs587678058	1		-1	KRTAP10-2	HGNC	HGNC:22967	protein_coding	YES	CCDS42955.1	ENSP00000375479	P60368		UPI000021C438	NM_198693.3	deleterious(0)		1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF8,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		rs587678058	.												A	3	1	62	44551122	44551122	C	A	1	0	0	0	0	1	0	0	0	8392	536	19	1		1	KRTAP10-2	21	44551122	Missense_Mutation	SNP	C	C3N-00580_TP	8304714	44551122	2158861	992	20452											
COL6A1	0	.	GRCh38	chr21	45998120	45998120	+	Splice_Site	DEL	G	G	-																															acggctactctgctcccccaGggagaagacggccccgctgg																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1526delG	p.Gly509GlufsTer28	p.X509_splice	ENST00000361866		458	231	227	586	586	0	sindel-varindel-pindel	COL6A1,splice_acceptor_variant,p.Gly509GlufsTer28,ENST00000361866,NM_001848.2;COL6A1,splice_acceptor_variant,p.Gly509GlufsTer28,ENST00000612273,;COL6A1,upstream_gene_variant,,ENST00000498614,;COL6A1,upstream_gene_variant,,ENST00000486023,;COL6A1,upstream_gene_variant,,ENST00000463060,;COL6A1,upstream_gene_variant,,ENST00000466285,;	-	ENST00000361866	Transcript	splice_acceptor_variant	-/4238	1526/3087	509/1028				1		1	COL6A1	HGNC	HGNC:2211	protein_coding	YES	CCDS13727.1	ENSP00000355180	P12109		UPI000019B179	NM_001848.2				22/34																		HIGH	1	deletion	1	2		1										PASS		.	.												-	8	5	62	45998120	45998120	G	-	1	0	1	0	1	0	0	1	0	3488	1014	35	0		0	COL6A1	21	45998120	Splice_Site	DEL	G	C3N-00580_TP	1446998	45998120	711863	993	20453											
FTCD	0	.	GRCh38	chr21	46151569	46151569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggtcacctggtccttccCgcggccctgctcccgcaggt	2	8	13	18	4	1	0	1	0	0	0	4	0	4	0	5	5	1	2	5	5	0	1	rs367906516		C3N-00580_TP	C3N-00580_NB	C	C																c.625G>T	p.Gly209Trp	p.G209W	ENST00000291670	5/15	232	108	124	213	213	0	strelka-varscan-mutect	FTCD,missense_variant,p.Gly209Trp,ENST00000397748,NM_001320412.1;FTCD,missense_variant,p.Gly209Trp,ENST00000291670,NM_006657.2;FTCD,missense_variant,p.Gly209Trp,ENST00000397746,NM_206965.1;FTCD,missense_variant,p.Gly209Trp,ENST00000397743,;FTCD-AS1,upstream_gene_variant,,ENST00000446649,;FTCD,non_coding_transcript_exon_variant,,ENST00000498355,;FTCD,upstream_gene_variant,,ENST00000480950,;FTCD,upstream_gene_variant,,ENST00000469240,;	A	ENST00000291670	Transcript	missense_variant	669/1905	625/1626	209/541	G/W	Ggg/Tgg	rs367906516	1		-1	FTCD	HGNC	HGNC:3974	protein_coding	YES	CCDS13731.1	ENSP00000291670	O95954		UPI000012AC75	NM_006657.2	deleterious(0.01)		5/15		Gene3D:1qd1A02,Pfam_domain:PF02971,hmmpanther:PTHR12234,hmmpanther:PTHR12234:SF0,SMART_domains:SM01221,Superfamily_domains:SSF55116,TIGRFAM_domain:TIGR02024																	MODERATE	1	SNV	1			1										PASS		rs367906516	.												A	3	1	62	46151569	46151569	C	A	1	0	0	0	0	1	0	0	0	5955	652	23	1		1	FTCD	21	46151569	Missense_Mutation	SNP	C	C3N-00580_TP	153449	46151569	558414	994	20454											
CCT8L2	0	.	GRCh38	chr22	16591174	16591174	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccatcacgtctgagacAgctaagcctgcattctctgc	8	11	8	14	1	4	1	1	1	3	1	5	2	4	1	2	0	5	2	2	0	1	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1377T>A	p.=	p.A459A	ENST00000359963	1/1	392	296	96	514	514	0	strelka-varscan-mutect	CCT8L2,synonymous_variant,p.=,ENST00000359963,NM_014406.4;FABP5P11,downstream_gene_variant,,ENST00000430910,;	T	ENST00000359963	Transcript	synonymous_variant	1637/2060	1377/1674	459/557	A	gcT/gcA		1		-1	CCT8L2	HGNC	HGNC:15553	protein_coding	YES	CCDS13738.1	ENSP00000353048	Q96SF2		UPI000006CF87	NM_014406.4			1/1		Gene3D:1.10.560.10,Pfam_domain:PF00118,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF100,Superfamily_domains:SSF48592																	LOW	1	SNV				1										PASS		.	.												T	2	4	62	16591174	16591174	A	T	1	0	0	0	0	0	0	0	1	2662	175	7	4		4	CCT8L2	22	16591174	Silent	SNP	A	C3N-00580_TP		16591174	34227294	995	20455											
CECR5	0	.	GRCh38	chr22	17145081	17145081	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggaaaggccatccgCagctcatccacggtgacgac	12	4	12	13	3	1	2	1	1	0	1	3	4	3	3	3	3	2	3	3	3	1	0	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.480G>T	p.=	p.L160L	ENST00000336737	4/8	316	251	65	418	417	1	strelka-varscan-mutect	CECR5,synonymous_variant,p.=,ENST00000336737,NM_033070.2;CECR5,synonymous_variant,p.=,ENST00000155674,NM_017829.5;CECR5,intron_variant,,ENST00000399852,;CECR5,downstream_gene_variant,,ENST00000480451,;CECR5,downstream_gene_variant,,ENST00000463033,;CECR5,upstream_gene_variant,,ENST00000477157,;CECR5,upstream_gene_variant,,ENST00000486462,;	A	ENST00000336737	Transcript	synonymous_variant	506/1799	480/1272	160/423	L	ctG/ctT		1		-1	CECR5	HGNC	HGNC:1843	protein_coding	YES	CCDS33595.1	ENSP00000337358	Q9BXW7		UPI000000D9E5	NM_033070.2			4/8		hmmpanther:PTHR14269,hmmpanther:PTHR14269:SF17,TIGRFAM_domain:TIGR01456,TIGRFAM_domain:TIGR01460																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	17145081	17145081	C	A	1	0	0	0	0	0	0	0	1	2914	697	25	2		2	CECR5	22	17145081	Silent	SNP	C	C3N-00580_TP	553907	17145081	33673387	996	20456											
MICAL3	0	.	GRCh38	chr22	17841910	17841910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccggtacctcctgcagtgCctcagcctgcctcagggaca	6	8	10	17	1	2	0	2	0	0	0	4	1	4	1	6	2	5	2	6	2	1	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.2713G>T	p.Ala905Ser	p.A905S	ENST00000441493	20/32	517	389	128	502	502	0	strelka-varscan-mutect	MICAL3,missense_variant,p.Ala905Ser,ENST00000441493,NM_015241.2;MICAL3,missense_variant,p.Ala933Ser,ENST00000414725,;MICAL3,missense_variant,p.Ala905Ser,ENST00000400561,NM_001122731.2;MICAL3,missense_variant,p.Ala905Ser,ENST00000383094,;MICAL3,3_prime_UTR_variant,,ENST00000495076,;MICAL3,non_coding_transcript_exon_variant,,ENST00000578905,;	A	ENST00000441493	Transcript	missense_variant	3066/9445	2713/6009	905/2002	A/S	Gca/Tca		1		-1	MICAL3	HGNC	HGNC:24694	protein_coding	YES	CCDS46659.1	ENSP00000416015	Q7RTP6		UPI0001823FDE	NM_015241.2	deleterious_low_confidence(0.03)		20/32																			MODERATE	1	SNV	5			1										PASS		rs1415915530	.												A	3	1	62	17841910	17841910	C	A	1	0	0	0	0	1	0	0	0	9528	739	26	2		2	MICAL3	22	17841910	Missense_Mutation	SNP	C	C3N-00580_TP	696829	17841910	32976558	997	20457											
C22orf29	0	.	GRCh38	chr22	19851850	19851850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaggatctcgcagacacGgctgatgttgtcctgatagt	8	11	12	10	2	1	4	0	3	1	1	3	5	2	5	2	2	0	3	2	2	1	2	rs547046193		C3N-00580_TP	C3N-00580_NB	G	G																c.412C>A	p.Arg138Ser	p.R138S	ENST00000405640	2/2	294	263	31	331	331	0	strelka-varscan-mutect	C22orf29,missense_variant,p.Arg138Ser,ENST00000405640,;C22orf29,missense_variant,p.Arg138Ser,ENST00000328554,NM_024627.5;C22orf29,missense_variant,p.Arg138Ser,ENST00000407472,;GNB1L,intron_variant,,ENST00000329517,NM_053004.2;GNB1L,intron_variant,,ENST00000403325,;GNB1L,intron_variant,,ENST00000405009,;GNB1L,intron_variant,,ENST00000453108,;C22orf29,downstream_gene_variant,,ENST00000416337,;C22orf29,intron_variant,,ENST00000484072,;GNB1L,intron_variant,,ENST00000460402,;GNB1L,intron_variant,,ENST00000481086,;	T	ENST00000405640	Transcript	missense_variant	1081/6785	412/1095	138/364	R/S	Cgt/Agt	rs547046193	1		-1	C22orf29	HGNC	HGNC:26112	protein_coding	YES	CCDS13769.1	ENSP00000384924	Q7L3V2		UPI0000207B8F		tolerated(0.44)		2/2		Pfam_domain:PF16297,hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF4																	MODERATE	1	SNV	1			1										PASS		rs547046193	.												T	3	4	62	19851850	19851850	G	T	1	0	0	0	0	1	0	0	0	2019	1116	39	1		1	C22orf29	22	19851850	Missense_Mutation	SNP	G	C3N-00580_TP	2009940	19851850	30966618	998	20458											
PRAME	0	.	GRCh38	chr22	22550305	22550305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgatgagagttcttcCgtaaatccagcacttgaagt	11	12	9	9	1	1	3	0	3	1	1	4	4	4	3	3	0	1	3	3	0	3	4	rs201783997		C3N-00580_TP	C3N-00580_NB	C	C																c.374G>A	p.Arg125Gln	p.R125Q	ENST00000543184	4/5	120	72	48	157	156	1	strelka-varscan-mutect	PRAME,missense_variant,p.Arg125Gln,ENST00000543184,NM_206953.2;PRAME,missense_variant,p.Arg125Gln,ENST00000398741,NM_206955.2;PRAME,missense_variant,p.Arg125Gln,ENST00000398743,NM_206954.2,NM_001291715.1,NM_006115.4;PRAME,missense_variant,p.Arg125Gln,ENST00000405655,NM_206956.2,NM_001291716.1;PRAME,missense_variant,p.Arg125Gln,ENST00000402697,;PRAME,missense_variant,p.Arg125Gln,ENST00000439106,;PRAME,missense_variant,p.Arg125Gln,ENST00000420709,;PRAME,missense_variant,p.Arg149Gln,ENST00000438888,;PRAME,downstream_gene_variant,,ENST00000406503,;PRAME,downstream_gene_variant,,ENST00000403441,;PRAME,non_coding_transcript_exon_variant,,ENST00000485532,;PRAME,non_coding_transcript_exon_variant,,ENST00000476336,;PRAME,non_coding_transcript_exon_variant,,ENST00000492657,;PRAME,downstream_gene_variant,,ENST00000442481,;	T	ENST00000543184	Transcript	missense_variant	1237/2758	374/1530	125/509	R/Q	cGg/cAg	rs201783997,COSM3390126,COSM3713625	1		-1	PRAME	HGNC	HGNC:9336	protein_coding	YES	CCDS13801.1	ENSP00000445675	P78395	A0A024R1E6	UPI0000000DDA	NM_206953.2	tolerated(0.07)		4/5		hmmpanther:PTHR14224:SF4,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs201783997	.												T	3	4	62	22550305	22550305	C	T	1	0	0	0	0	1	0	0	0	12553	652	23	1		1	PRAME	22	22550305	Missense_Mutation	SNP	C	C3N-00580_TP	2698455	22550305	28268163	999	20459											
SUSD2	0	.	GRCh38	chr22	24186346	24186346	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctggccaacaggaccGgaggtctggaggtgctgctg	7	7	17	10	1	2	0	1	0	1	0	2	3	2	3	2	7	3	3	2	7	1	0	rs140483621		C3N-00580_TP	C3N-00580_NB	G	G																c.1573G>T	p.Gly525Ter	p.G525*	ENST00000358321	10/15	230	193	37	334	334	0	strelka-varscan-mutect	SUSD2,stop_gained,p.Gly525Ter,ENST00000358321,NM_019601.3;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,;	T	ENST00000358321	Transcript	stop_gained	1834/3404	1573/2469	525/822	G/*	Gga/Tga	rs140483621	1		1	SUSD2	HGNC	HGNC:30667	protein_coding	YES	CCDS13824.1	ENSP00000351075	Q9UGT4	A0A140VJW3	UPI000006CC92	NM_019601.3			10/15		Pfam_domain:PF00094,PROSITE_profiles:PS51233,hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF43,SMART_domains:SM00216																	HIGH	1	SNV	1			1										PASS		rs140483621	.												T	4	4	62	24186346	24186346	G	T	1	0	0	0	0	0	1	0	0	15793	1117	39	1		1	SUSD2	22	24186346	Nonsense_Mutation	SNP	G	C3N-00580_TP	1636041	24186346	26632122	1000	20460											
GUCD1	0	.	GRCh38	chr22	24543098	24543098	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctggtgctgcacattcCtgctgggggtggggaaggca	6	9	18	8	0	0	0	0	0	0	0	1	2	1	1	1	6	4	5	1	6	1	1	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.799G>T	p.Gly267Ter	p.G267*	ENST00000621833	6/6	207	176	31	248	248	0	strelka-varscan-mutect	GUCD1,splice_acceptor_variant,,ENST00000435822,NM_001284255.1,NM_001284254.1;GUCD1,splice_acceptor_variant,,ENST00000404664,NM_001284252.1,NM_001284253.1;GUCD1,splice_acceptor_variant,,ENST00000447813,NM_001284257.1;GUCD1,stop_gained,p.Gly267Ter,ENST00000621833,NM_001284251.1;GUCD1,stop_gained,p.Gly211Ter,ENST00000407471,NM_031444.3;GUCD1,missense_variant,p.Arg130Met,ENST00000402766,NM_001284256.1;GUCD1,downstream_gene_variant,,ENST00000407973,;GUCD1,splice_acceptor_variant,,ENST00000493099,;GUCD1,intron_variant,,ENST00000490922,;GUCD1,downstream_gene_variant,,ENST00000490810,;GUCD1,splice_acceptor_variant,,ENST00000398245,;GUCD1,downstream_gene_variant,,ENST00000468170,;GUCD1,downstream_gene_variant,,ENST00000480272,;	A	ENST00000621833	Transcript	stop_gained,splice_region_variant	909/3584	799/891	267/296	G/*	Gga/Tga		1		-1	GUCD1	HGNC	HGNC:14237	protein_coding	YES	CCDS74833.1	ENSP00000479370		A0A087WVD9	UPI00002327A0	NM_001284251.1			6/6		Pfam_domain:PF09778,hmmpanther:PTHR31400																	HIGH	1	SNV	1			1										PASS		rs1317907434	.												A	4	1	62	24543098	24543098	C	A	1	0	0	0	0	0	1	0	0	6774	695	24	2		2	GUCD1	22	24543098	Nonsense_Mutation	SNP	C	C3N-00580_TP	356752	24543098	26275370	1001	20461											
KIAA1671	0	.	GRCh38	chr22	25039724	25039724	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccagcatgaggggccagAgggggccagaagcaagccag	13	1	17	10	0	0	3	0	1	0	2	0	3	0	3	4	4	4	2	4	4	3	0	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.2594A>T	p.Glu865Val	p.E865V	ENST00000358431	3/11	19	16	3	28	28	0	strelka-mutect	KIAA1671,missense_variant,p.Glu865Val,ENST00000358431,NM_001145206.1;KIAA1671,missense_variant,p.Glu865Val,ENST00000406486,;KIAA1671,upstream_gene_variant,,ENST00000494730,;KIAA1671,upstream_gene_variant,,ENST00000461374,;	T	ENST00000358431	Transcript	missense_variant	2620/10490	2594/5421	865/1806	E/V	gAg/gTg		1		1	KIAA1671	HGNC	HGNC:29345	protein_coding	YES	CCDS46676.1	ENSP00000351207	Q9BY89		UPI00002073DC	NM_001145206.1	tolerated(0.12)		3/11		hmmpanther:PTHR22042,hmmpanther:PTHR22042:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	25039724	25039724	A	T	1	0	0	0	0	1	0	0	0	8125	304	11	4		4	KIAA1671	22	25039724	Missense_Mutation	SNP	A	C3N-00580_TP	496626	25039724	25778744	1002	20462											
SLC5A4	0	.	GRCh38	chr22	32229246	32229246	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttccgcatcttggtgtAgaggtcaatggtgaagaggg	8	12	15	6	1	2	3	1	1	1	2	3	3	3	3	1	4	1	3	1	4	3	4	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.1228T>A	p.Tyr410Asn	p.Y410N	ENST00000266086	11/15	143	95	48	180	180	0	strelka-varscan-mutect	SLC5A4,missense_variant,p.Tyr410Asn,ENST00000266086,NM_014227.2;RP1-90G24.10,intron_variant,,ENST00000434942,;	T	ENST00000266086	Transcript	missense_variant	1240/2030	1228/1980	410/659	Y/N	Tac/Aac		1		-1	SLC5A4	HGNC	HGNC:11039	protein_coding	YES	CCDS13903.1	ENSP00000266086	Q9NY91		UPI00001359F4	NM_014227.2	deleterious(0)		11/15		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF112,TIGRFAM_domain:TIGR00813																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	32229246	32229246	A	T	1	0	0	0	0	1	0	0	0	14950	420	15	4		4	SLC5A4	22	32229246	Missense_Mutation	SNP	A	C3N-00580_TP	7189522	32229246	18589222	1003	20463											
TEX33	0	.	GRCh38	chr22	36999967	36999967	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggccctcgaagacttcAtcaatagccttttgagcctg	8	13	8	12	1	3	2	2	1	1	1	4	3	3	2	3	1	2	0	3	1	3	5	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.507T>A	p.Asp169Glu	p.D169E	ENST00000405091	5/7	80	68	12	115	115	0	strelka-varscan-mutect	TEX33,missense_variant,p.Asp169Glu,ENST00000405091,;TEX33,missense_variant,p.Asp84Glu,ENST00000402860,NM_178552.3;TEX33,missense_variant,p.Asp169Glu,ENST00000381821,NM_001163857.1;TEX33,missense_variant,p.Asp28Glu,ENST00000442538,;	T	ENST00000405091	Transcript	missense_variant	759/1149	507/843	169/280	D/E	gaT/gaA		1		-1	TEX33	HGNC	HGNC:28568	protein_coding	YES	CCDS54524.1	ENSP00000386118	O43247		UPI000020767B		tolerated(0.3)		5/7		Pfam_domain:PF15400,hmmpanther:PTHR31702																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	36999967	36999967	A	T	1	0	0	0	0	1	0	0	0	16210	214	8	4		4	TEX33	22	36999967	Missense_Mutation	SNP	A	C3N-00580_TP	4770721	36999967	13818501	1004	20464											
ELFN2	0	.	GRCh38	chr22	37373131	37373131	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaggatgtcatgcagatcctCgtccttggcgaactggacct	9	10	11	11	2	1	1	1	0	0	1	4	4	3	3	3	3	2	1	3	3	2	1			C3N-00580_TP	C3N-00580_NB	C	C																c.2404G>C	p.Glu802Gln	p.E802Q	ENST00000402918	3/3	95	61	34	145	145	0	strelka-varscan-mutect	ELFN2,missense_variant,p.Glu802Gln,ENST00000402918,NM_052906.4;ELFN2,missense_variant,p.Glu802Gln,ENST00000613079,;ELFN2,intron_variant,,ENST00000430883,;ELFN2,intron_variant,,ENST00000452946,;RP1-63G5.8,downstream_gene_variant,,ENST00000609322,;ELFN2,downstream_gene_variant,,ENST00000435824,;ELFN2,downstream_gene_variant,,ENST00000415408,;ELFN2,downstream_gene_variant,,ENST00000414347,;ELFN2,downstream_gene_variant,,ENST00000451509,;ELFN2,downstream_gene_variant,,ENST00000424973,;	G	ENST00000402918	Transcript	missense_variant	3190/8361	2404/2463	802/820	E/Q	Gag/Cag	COSM478940	1		-1	ELFN2	HGNC	HGNC:29396	protein_coding	YES	CCDS33642.1	ENSP00000385277	Q5R3F8		UPI000004E87D	NM_052906.4	deleterious(0)		3/3		hmmpanther:PTHR24367:SF248,hmmpanther:PTHR24367											1						MODERATE		SNV	4		1	1										PASS		.	.												G	3	3	62	37373131	37373131	C	G	1	0	0	0	0	1	0	0	0	4892	893	31	4		4	ELFN2	22	37373131	Missense_Mutation	SNP	C	C3N-00580_TP	373164	37373131	13445337	1005	20465											
ACO2	0	.	GRCh38	chr22	41508030	41508030	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcccaggttgggggcgagaAagacctgcgccgggccaagg	9	3	18	11	3	0	2	0	0	0	2	0	3	0	2	4	5	2	1	4	5	2	1	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.413A>T	p.Lys138Ile	p.K138I	ENST00000216254	3/18	112	92	20	185	185	0	strelka-varscan-mutect	ACO2,missense_variant,p.Lys138Ile,ENST00000396512,;ACO2,missense_variant,p.Lys138Ile,ENST00000216254,NM_001098.2;ACO2,non_coding_transcript_exon_variant,,ENST00000471094,;ACO2,non_coding_transcript_exon_variant,,ENST00000478010,;ACO2,non_coding_transcript_exon_variant,,ENST00000482208,;	T	ENST00000216254	Transcript	missense_variant	435/2741	413/2343	138/780	K/I	aAa/aTa		1		1	ACO2	HGNC	HGNC:118	protein_coding	YES	CCDS14017.1	ENSP00000216254	Q99798		UPI000003CA3B	NM_001098.2	deleterious_low_confidence(0.04)		3/18		hmmpanther:PTHR11670,hmmpanther:PTHR11670:SF30,Pfam_domain:PF00330,TIGRFAM_domain:TIGR01340,Gene3D:3.30.499.10,Superfamily_domains:SSF53732																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	41508030	41508030	A	T	1	0	0	0	0	1	0	0	0	188	14	1	4		4	ACO2	22	41508030	Missense_Mutation	SNP	A	C3N-00580_TP	4134899	41508030	9310438	1006	20466											
MEI1	0	.	GRCh38	chr22	41784777	41784777	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgggctgcagaacctcctGgtgcaggtaaggcccttgct	7	10	13	11	0	0	1	0	0	0	1	1	1	1	1	3	4	4	5	3	4	2	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.3339G>C	p.=	p.L1113L	ENST00000401548	26/31	62	40	22	92	92	0	strelka-varscan-mutect	MEI1,synonymous_variant,p.=,ENST00000401548,NM_152513.3;MEI1,synonymous_variant,p.=,ENST00000403492,;MEI1,non_coding_transcript_exon_variant,,ENST00000476893,;MEI1,intron_variant,,ENST00000487535,;MEI1,intron_variant,,ENST00000484966,;MEI1,downstream_gene_variant,,ENST00000462246,;MEI1,downstream_gene_variant,,ENST00000498456,;MEI1,downstream_gene_variant,,ENST00000462450,;MEI1,downstream_gene_variant,,ENST00000473736,;	C	ENST00000401548	Transcript	synonymous_variant	3379/4020	3339/3825	1113/1274	L	ctG/ctC		1		1	MEI1	HGNC	HGNC:28613	protein_coding	YES	CCDS46718.1	ENSP00000384115	Q5TIA1		UPI00006E232C	NM_152513.3			26/31		hmmpanther:PTHR12044,hmmpanther:PTHR12044:SF10																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	62	41784777	41784777	G	C	1	0	0	0	0	0	0	0	1	9405	1335	47	4		4	MEI1	22	41784777	Silent	SNP	G	C3N-00580_TP	276747	41784777	9033691	1007	20467											
MPPED1	0	.	GRCh38	chr22	43498255	43498255	+	Frame_Shift_Del	DEL	G	G	-																															gcagccctggttctacggctGgggcttcaacctcccgcgag																								novel		C3N-00580_TP	C3N-00580_NB	G	G																c.656delG	p.Gly219AlafsTer21	p.G219Afs*21	ENST00000417669	5/7	100	86	14	170	170	0	sindel-varindel-pindel	MPPED1,frameshift_variant,p.Gly219AlafsTer21,ENST00000417669,;MPPED1,frameshift_variant,p.Gly219AlafsTer21,ENST00000443721,NM_001044370.1;	-	ENST00000417669	Transcript	frameshift_variant	1097/3657	653/981	218/326	W/X	tGg/tg		1		1	MPPED1	HGNC	HGNC:1306	protein_coding	YES	CCDS46723.1	ENSP00000388137	O15442		UPI000006DF41				5/7		Pfam_domain:PF00149,PIRSF_domain:PIRSF035808,hmmpanther:PTHR12905,hmmpanther:PTHR12905:SF12,Superfamily_domains:SSF56300																	HIGH	1	deletion	5	3		1										PASS		.	.												-	7	5	62	43498255	43498255	G	-	1	0	1	0	1	0	0	0	0	9707	1357	47	0		0	MPPED1	22	43498255	Frame_Shift_Del	DEL	G	C3N-00580_TP	1713478	43498255	7320213	1008	20468											
ARSF	0	.	GRCh38	chrX	3112462	3112462	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactgaatcagggcaggaCgtggctgaagccttgctgtg	10	8	15	8	1	1	3	1	2	0	1	1	4	1	4	1	3	3	3	1	3	3	1	rs772851609		C3N-00580_TP	C3N-00580_NB	C	C																c.1679C>A	p.Thr560Lys	p.T560K	ENST00000381127	11/11	157	76	81	173	173	0	strelka-varscan-mutect	ARSF,missense_variant,p.Thr560Lys,ENST00000381127,NM_001201538.1,NM_001201539.1;ARSF,missense_variant,p.Thr560Lys,ENST00000359361,NM_004042.4;RP13-824C8.2,downstream_gene_variant,,ENST00000443851,;	A	ENST00000381127	Transcript	missense_variant	1900/2164	1679/1773	560/590	T/K	aCg/aAg	rs772851609	1		1	ARSF	HGNC	HGNC:721	protein_coding	YES	CCDS14123.1	ENSP00000370519	P54793		UPI00001A9629	NM_001201538.1,NM_001201539.1	deleterious(0)		11/11		hmmpanther:PTHR10342:SF220,hmmpanther:PTHR10342,Pfam_domain:PF14707,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		rs772851609	.												A	3	1	62	3112462	3112462	C	A	1	0	0	0	0	1	0	0	0	1134	536	19	1		1	ARSF	23	3112462	Missense_Mutation	SNP	C	C3N-00580_TP		3112462	152928433	1009	20469											
MXRA5	0	.	GRCh38	chrX	3317272	3317272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcacgctgcacgttcaGctgcaccgtcctgcgcgcgg	4	8	13	16	6	1	0	1	0	0	0	2	0	2	0	2	1	6	7	2	1	0	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.6409C>A	p.Leu2137Met	p.L2137M	ENST00000217939	6/7	56	18	38	56	56	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Leu2137Met,ENST00000217939,NM_015419.3;	T	ENST00000217939	Transcript	missense_variant	6564/9793	6409/8487	2137/2828	L/M	Ctg/Atg		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	deleterious(0)		6/7		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	62	3317272	3317272	G	T	1	0	0	0	0	1	0	0	0	10002	962	34	2		2	MXRA5	23	3317272	Missense_Mutation	SNP	G	C3N-00580_TP	204810	3317272	152723623	1010	20470											
MXRA5	0	.	GRCh38	chrX	3317878	3317878	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaccatcctgtccaggcCgtgcaggttgctggcggtgc	5	8	14	14	2	0	0	0	0	0	0	2	1	2	0	5	4	3	3	5	4	0	1			C3N-00580_TP	C3N-00580_NB	C	C																c.5803G>T	p.Gly1935Cys	p.G1935C	ENST00000217939	6/7	131	64	67	144	144	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Gly1935Cys,ENST00000217939,NM_015419.3;	A	ENST00000217939	Transcript	missense_variant	5958/9793	5803/8487	1935/2828	G/C	Ggc/Tgc	COSM4704232,COSM4704233	1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	deleterious(0)		6/7		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1470253715	.												A	3	1	62	3317878	3317878	C	A	1	0	0	0	0	1	0	0	0	10002	652	23	1		1	MXRA5	23	3317878	Missense_Mutation	SNP	C	C3N-00580_TP	606	3317878	152723017	1011	20471											
MXRA5	0	.	GRCh38	chrX	3321249	3321249	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtaggggtgtgattcTgtggtctagtttcagaaagg	9	12	15	5	0	3	2	1	1	2	1	3	2	3	2	0	4	1	3	0	4	3	4	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.4436A>G	p.Gln1479Arg	p.Q1479R	ENST00000217939	5/7	153	57	96	119	119	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Gln1479Arg,ENST00000217939,NM_015419.3;	C	ENST00000217939	Transcript	missense_variant	4591/9793	4436/8487	1479/2828	Q/R	cAg/cGg		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	tolerated(0.25)		5/7		hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	62	3321249	3321249	T	C	1	0	0	0	0	1	0	0	0	10002	1580	55	5		5	MXRA5	23	3321249	Missense_Mutation	SNP	T	C3N-00580_TP	3371	3321249	152719646	1012	20472											
MXRA5	0	.	GRCh38	chrX	3324937	3324937	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacattgcacacaactgacCgccttcataagctttgtcct	10	11	6	14	1	1	1	1	1	0	0	2	1	2	1	3	0	3	3	3	0	2	4	rs762522596		C3N-00580_TP	C3N-00580_NB	C	C																c.748G>C	p.Gly250Arg	p.G250R	ENST00000217939	5/7	32	17	15	23	23	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Gly250Arg,ENST00000217939,NM_015419.3;	G	ENST00000217939	Transcript	missense_variant	903/9793	748/8487	250/2828	G/R	Ggt/Cgt	rs762522596,COSM312998,COSM312999	1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	deleterious(0)		5/7		hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489,SMART_domains:SM00082											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs762522596	.												G	3	3	62	3324937	3324937	C	G	1	0	0	0	0	1	0	0	0	10002	652	23	4		4	MXRA5	23	3324937	Missense_Mutation	SNP	C	C3N-00580_TP	3688	3324937	152715958	1013	20473											
DDX53	0	.	GRCh38	chrX	23001458	23001458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagagaacatgtcacccaaCgacaaagtcatcatgtttgt	14	10	8	9	1	3	1	3	0	0	1	3	3	3	1	1	0	2	2	1	0	4	2	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1401C>A	p.Asn467Lys	p.N467K	ENST00000327968	1/1	67	20	47	75	75	0	strelka-varscan-mutect	DDX53,missense_variant,p.Asn467Lys,ENST00000327968,NM_182699.3;PTCHD1-AS,intron_variant,,ENST00000455399,;PTCHD1-AS,intron_variant,,ENST00000608254,;	A	ENST00000327968	Transcript	missense_variant	1498/3629	1401/1896	467/631	N/K	aaC/aaA		1		1	DDX53	HGNC	HGNC:20083	protein_coding	YES	CCDS35214.1	ENSP00000368667	Q86TM3		UPI0000199904	NM_182699.3	tolerated(1)		1/1		Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF310,Superfamily_domains:SSF52540																	MODERATE		SNV				1										PASS		rs1036606790	.												A	3	1	62	23001458	23001458	C	A	1	0	0	0	0	1	0	0	0	4174	535	19	1		1	DDX53	23	23001458	Missense_Mutation	SNP	C	C3N-00580_TP	19676521	23001458	133039437	1014	20474											
ZFX	0	.	GRCh38	chrX	24210515	24210515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagccaacaaaatgcaCaagtgtaaattctgtgaata	19	8	8	6	0	1	1	0	1	1	0	1	2	1	2	1	1	3	2	1	1	9	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1557C>T	p.=	p.H519H	ENST00000379177	11/11	363	249	114	345	345	0	strelka-varscan-mutect	ZFX,synonymous_variant,p.=,ENST00000379177,NM_001178095.1,NM_001178084.1,NM_001178085.1,NM_003410.3;ZFX,synonymous_variant,p.=,ENST00000379188,;ZFX,synonymous_variant,p.=,ENST00000539115,NM_001178086.1;ZFX,synonymous_variant,p.=,ENST00000304543,;ZFX,synonymous_variant,p.=,ENST00000338565,;ZFX,downstream_gene_variant,,ENST00000459724,;	T	ENST00000379177	Transcript	synonymous_variant	1984/7558	1557/2418	519/805	H	caC/caT		1		1	ZFX	HGNC	HGNC:12869	protein_coding	YES	CCDS14211.1	ENSP00000368475	P17010	A0A024RC04	UPI000013C504	NM_001178095.1,NM_001178084.1,NM_001178085.1,NM_003410.3			11/11		PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF222,hmmpanther:PTHR24387,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	24210515	24210515	C	T	1	0	0	0	0	0	0	0	1	18239	477	17	3		3	ZFX	23	24210515	Silent	SNP	C	C3N-00580_TP	1209057	24210515	131830380	1015	20475											
PPP4R3CP	0	.	GRCh38	chrX	27461079	27461079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcgtcatcttccagtggtgGcataactgcttctccttctt	6	16	7	12	1	4	0	1	0	3	0	7	0	5	0	2	2	2	2	2	2	1	5	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2218C>A	p.Pro740Thr	p.P740T	ENST00000412172	1/1	216	82	134	276	276	0	strelka-varscan-mutect	PPP4R3CP,missense_variant,p.Pro740Thr,ENST00000412172,;	T	ENST00000412172	Transcript	missense_variant	2263/3131	2218/2499	740/832	P/T	Cca/Aca		1		-1	PPP4R3CP	HGNC	HGNC:33146	protein_coding	YES		ENSP00000489770			UPI0000D61D3F				1/1		hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF5																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	62	27461079	27461079	G	T	1	0	0	0	0	1	0	0	0	12529	1203	42	2		2	PPP4R3CP	23	27461079	Missense_Mutation	SNP	G	C3N-00580_TP	3250564	27461079	128579816	1016	20476											
FAM47C	0	.	GRCh38	chrX	37010869	37010869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccggagcctaccaagaccgGagcgtcccatctaaaagaac	13	4	9	15	3	1	2	0	0	1	2	2	4	2	4	5	2	4	0	5	2	5	2			C3N-00580_TP	C3N-00580_NB	G	G																c.2459G>T	p.Gly820Val	p.G820V	ENST00000358047	1/1	238	160	78	224	224	0	strelka-varscan-mutect	FAM47C,missense_variant,p.Gly820Val,ENST00000358047,NM_001013736.2;	T	ENST00000358047	Transcript	missense_variant	2473/3270	2459/3108	820/1035	G/V	gGa/gTa	COSM5252580,COSM5252581	1		1	FAM47C	HGNC	HGNC:25301	protein_coding	YES	CCDS35227.1	ENSP00000367913	Q5HY64		UPI000041ABF8	NM_001013736.2	tolerated(0.28)		1/1		Pfam_domain:PF14642											1,1						MODERATE	1	SNV			1,1	1										PASS		.	.												T	3	4	62	37010869	37010869	G	T	1	0	0	0	0	1	0	0	0	5449	1174	41	2		2	FAM47C	23	37010869	Missense_Mutation	SNP	G	C3N-00580_TP	9549790	37010869	119030026	1017	20477											
AKAP4	0	.	GRCh38	chrX	50193913	50193913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcagaagcaatcttgctcGcaggagttcggggactgatt	9	12	12	8	2	2	2	1	1	1	1	4	4	2	4	0	3	2	4	0	3	2	4	rs200204337		C3N-00580_TP	C3N-00580_NB	G	G																c.800C>A	p.Ala267Glu	p.A267E	ENST00000358526	5/6	96	53	43	109	109	0	strelka-varscan-mutect	AKAP4,missense_variant,p.Ala267Glu,ENST00000358526,NM_003886.2;AKAP4,missense_variant,p.Ala258Glu,ENST00000376064,NM_139289.1;AKAP4,intron_variant,,ENST00000448865,;AKAP4,downstream_gene_variant,,ENST00000437370,;AKAP4,non_coding_transcript_exon_variant,,ENST00000481402,;AKAP4,downstream_gene_variant,,ENST00000480926,;	T	ENST00000358526	Transcript	missense_variant	924/2881	800/2565	267/854	A/E	gCg/gAg	rs200204337,COSM1161828	1		-1	AKAP4	HGNC	HGNC:374	protein_coding	YES	CCDS14329.1	ENSP00000351327	Q5JQC9		UPI000013DA96	NM_003886.2	tolerated(0.75)		5/6		hmmpanther:PTHR10226:SF8,hmmpanther:PTHR10226,Pfam_domain:PF05716,SMART_domains:SM00807											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs200204337	.												T	3	4	62	50193913	50193913	G	T	1	0	0	0	0	1	0	0	0	537	1087	38	1		1	AKAP4	23	50193913	Missense_Mutation	SNP	G	C3N-00580_TP	13183044	50193913	105846982	1018	20478											
DGKK	0	.	GRCh38	chrX	50403073	50403073	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcttaccgtagaattacaCcacaggcagcggaagtcttg	12	9	10	10	2	2	1	0	0	2	1	2	2	2	2	2	2	3	2	2	2	5	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.1296G>T	p.Trp432Cys	p.W432C	ENST00000611977	7/28	88	59	29	84	84	0	strelka-varscan-mutect	DGKK,missense_variant,p.Trp432Cys,ENST00000611977,NM_001013742.3;	A	ENST00000611977	Transcript	missense_variant	1356/7407	1296/3816	432/1271	W/C	tgG/tgT		1		-1	DGKK	HGNC	HGNC:32395	protein_coding	YES	CCDS75980.1	ENSP00000477515	Q5KSL6		UPI00004BA922	NM_001013742.3	deleterious(0)		7/28		PROSITE_profiles:PS50081,hmmpanther:PTHR11255:SF33,hmmpanther:PTHR11255,Pfam_domain:PF00130,Gene3D:3.30.60.20,SMART_domains:SM00109,Superfamily_domains:SSF57889																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	62	50403073	50403073	C	A	1	0	0	0	0	1	0	0	0	4278	508	18	2		2	DGKK	23	50403073	Missense_Mutation	SNP	C	C3N-00580_TP	209160	50403073	105637822	1019	20479											
OGT	0	.	GRCh38	chrX	71563228	71563228	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttcttgatagtctaccAgatgtgaaaattgtcaaggt	12	14	9	6	0	3	3	1	2	2	1	3	3	3	3	1	1	1	1	1	1	5	5	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.2247A>T	p.=	p.P749P	ENST00000373719	17/22	101	34	67	93	93	0	strelka-varscan-mutect	OGT,synonymous_variant,p.=,ENST00000373719,NM_181672.2;OGT,synonymous_variant,p.=,ENST00000373701,NM_181673.2;OGT,non_coding_transcript_exon_variant,,ENST00000488174,;OGT,upstream_gene_variant,,ENST00000474633,;	T	ENST00000373719	Transcript	synonymous_variant	2464/5461	2247/3141	749/1046	P	ccA/ccT		1		1	OGT	HGNC	HGNC:8127	protein_coding	YES	CCDS14414.1	ENSP00000362824	O15294		UPI0000073C9F	NM_181672.2			17/22		Pfam_domain:PF13844																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	62	71563228	71563228	A	T	1	0	0	0	0	0	0	0	1	10922	175	7	4		4	OGT	23	71563228	Silent	SNP	A	C3N-00580_TP	21160155	71563228	84477667	1020	20480											
TBX22	0	.	GRCh38	chrX	80023170	80023170	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaagatattcaaatggagCttcaaggatctgaactgtgg	15	10	11	5	0	3	3	2	1	1	2	3	5	3	5	0	3	2	1	0	3	5	3	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.286C>G	p.Leu96Val	p.L96V	ENST00000373296	3/9	191	104	87	202	202	0	strelka-varscan-mutect	TBX22,missense_variant,p.Leu96Val,ENST00000373296,NM_001109878.1,NM_001109879.1;TBX22,missense_variant,p.Leu96Val,ENST00000373294,NM_016954.2,NM_001303475.1;TBX22,non_coding_transcript_exon_variant,,ENST00000626877,;TBX22,missense_variant,p.Leu96Val,ENST00000626498,;TBX22,downstream_gene_variant,,ENST00000476373,;	G	ENST00000373296	Transcript	missense_variant	420/2355	286/1563	96/520	L/V	Ctt/Gtt		1		1	TBX22	HGNC	HGNC:11600	protein_coding	YES	CCDS14445.1	ENSP00000362393	Q9Y458		UPI00001377ED	NM_001109878.1,NM_001109879.1	deleterious(0.01)		3/9		PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF116,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	62	80023170	80023170	C	G	1	0	0	0	0	1	0	0	0	16063	797	28	4		4	TBX22	23	80023170	Missense_Mutation	SNP	C	C3N-00580_TP	8459942	80023170	76017725	1021	20481											
PCDH19	0	.	GRCh38	chrX	100406782	100406782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggtcgccctcggtcatgtCgtaggtgactcggccatttt	4	12	13	12	5	1	1	1	1	0	0	5	1	1	1	2	4	0	1	2	4	1	3			C3N-00580_TP	C3N-00580_NB	C	C																c.1816G>A	p.Asp606Asn	p.D606N	ENST00000373034	1/6	453	429	24	386	385	1	strelka-varscan-mutect	PCDH19,missense_variant,p.Asp606Asn,ENST00000373034,NM_001184880.1;PCDH19,missense_variant,p.Asp606Asn,ENST00000255531,NM_001105243.1;PCDH19,missense_variant,p.Asp606Asn,ENST00000420881,NM_020766.2;PCDH19,upstream_gene_variant,,ENST00000636150,;	T	ENST00000373034	Transcript	missense_variant	3492/9756	1816/3447	606/1148	D/N	Gac/Aac	COSM222440,COSM222441	1		-1	PCDH19	HGNC	HGNC:14270	protein_coding	YES	CCDS55462.1	ENSP00000362125	Q8TAB3		UPI00001D7BCD	NM_001184880.1	deleterious(0.02)		1/6		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF40,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	62	100406782	100406782	C	T	1	0	0	0	0	1	0	0	0	11601	884	31	1		1	PCDH19	23	100406782	Missense_Mutation	SNP	C	C3N-00580_TP	20383612	100406782	55634113	1022	20482											
SRPX2	0	.	GRCh38	chrX	100646360	100646360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagaggagctctctttcTgctgttcttcctaactccgg	7	14	8	12	1	4	1	1	0	3	1	7	2	6	2	2	2	3	3	2	2	2	4	novel		C3N-00580_TP	C3N-00580_NB	T	T																c.38T>C	p.Leu13Pro	p.L13P	ENST00000373004	2/11	323	211	112	274	274	0	strelka-varscan-mutect	SRPX2,missense_variant,p.Leu13Pro,ENST00000373004,NM_014467.2;SRPX2,non_coding_transcript_exon_variant,,ENST00000481988,;	C	ENST00000373004	Transcript	missense_variant	466/2138	38/1398	13/465	L/P	cTg/cCg		1		1	SRPX2	HGNC	HGNC:30668	protein_coding	YES	CCDS14471.1	ENSP00000362095	O60687		UPI000006CCC6	NM_014467.2	deleterious(0)		2/11		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	62	100646360	100646360	T	C	1	0	0	0	0	1	0	0	0	15526	1580	55	5		5	SRPX2	23	100646360	Missense_Mutation	SNP	T	C3N-00580_TP	239578	100646360	55394535	1023	20483											
MORF4L2	0	.	GRCh38	chrX	103676716	103676716	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttcaacagtggggtctgcCcgggcccttttcttccgagg	4	12	12	13	2	3	0	1	0	2	0	4	1	4	0	3	4	2	0	3	4	1	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.312G>T	p.=	p.R104R	ENST00000422154	4/4	79	52	27	79	79	0	strelka-varscan-mutect	MORF4L2,synonymous_variant,p.=,ENST00000422154,NM_001142418.1,NM_012286.2,NM_001142423.1,NM_001142424.1,NM_001142429.1,NM_001142425.1;MORF4L2,synonymous_variant,p.=,ENST00000433176,NM_001142421.1,NM_001142428.1,NM_001142419.1,NM_001142431.1,NM_001142422.1,NM_001142420.1,NM_001142427.1,NM_001142432.1;MORF4L2,synonymous_variant,p.=,ENST00000451301,NM_001142430.1,NM_001142426.1;MORF4L2,synonymous_variant,p.=,ENST00000441076,;MORF4L2,synonymous_variant,p.=,ENST00000360458,;MORF4L2,synonymous_variant,p.=,ENST00000434230,;MORF4L2,synonymous_variant,p.=,ENST00000442614,;MORF4L2,synonymous_variant,p.=,ENST00000418819,;MORF4L2,synonymous_variant,p.=,ENST00000423833,;MORF4L2,downstream_gene_variant,,ENST00000422355,;MORF4L2,non_coding_transcript_exon_variant,,ENST00000492116,;MORF4L2,downstream_gene_variant,,ENST00000474653,;MORF4L2,downstream_gene_variant,,ENST00000498064,;MORF4L2,downstream_gene_variant,,ENST00000467755,;	A	ENST00000422154	Transcript	synonymous_variant	767/1983	312/867	104/288	R	cgG/cgT		1		-1	MORF4L2	HGNC	HGNC:16849	protein_coding	YES	CCDS14512.1	ENSP00000394417	Q15014		UPI000012F567	NM_001142418.1,NM_012286.2,NM_001142423.1,NM_001142424.1,NM_001142429.1,NM_001142425.1			4/4		Gene3D:1wgsA00,hmmpanther:PTHR10880,hmmpanther:PTHR10880:SF25																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	103676716	103676716	C	A	1	0	0	0	0	0	0	0	1	9670	610	22	2		2	MORF4L2	23	103676716	Silent	SNP	C	C3N-00580_TP	3030356	103676716	52364179	1024	20484											
ESX1	0	.	GRCh38	chrX	104254471	104254471	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgaggggacggacccttcCgtgccaacgttgttttccgc	5	10	12	14	5	0	0	0	0	0	0	3	3	3	2	5	3	2	2	5	3	1	4	novel		C3N-00580_TP	C3N-00580_NB	C	C																c.189G>T	p.=	p.T63T	ENST00000372588	2/4	249	117	132	283	283	0	strelka-varscan-mutect	ESX1,synonymous_variant,p.=,ENST00000372588,NM_153448.3;	A	ENST00000372588	Transcript	synonymous_variant	273/1495	189/1221	63/406	T	acG/acT		1		-1	ESX1	HGNC	HGNC:14865	protein_coding	YES	CCDS14516.1	ENSP00000361669	Q8N693		UPI0000073D09	NM_153448.3			2/4		hmmpanther:PTHR24329:SF374,hmmpanther:PTHR24329																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	62	104254471	104254471	C	A	1	0	0	0	0	0	0	0	1	5125	639	23	1		1	ESX1	23	104254471	Silent	SNP	C	C3N-00580_TP	577755	104254471	51786424	1025	20485											
MUM1L1	0	.	GRCh38	chrX	106206983	106206983	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaacaaatttccaaagctGcataatgaagatgccaggga	17	7	10	7	0	0	2	0	1	0	1	1	4	1	4	2	2	4	2	2	2	5	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1551G>T	p.=	p.L517L	ENST00000337685	5/5	68	26	42	79	79	0	strelka-varscan-mutect	MUM1L1,synonymous_variant,p.=,ENST00000337685,NM_152423.4;MUM1L1,synonymous_variant,p.=,ENST00000357175,NM_001171020.1;MUM1L1,synonymous_variant,p.=,ENST00000372552,;	T	ENST00000337685	Transcript	synonymous_variant	2336/4308	1551/2091	517/696	L	ctG/ctT		1		1	MUM1L1	HGNC	HGNC:26583	protein_coding	YES	CCDS55469.1	ENSP00000338641	Q5H9M0		UPI0000212206	NM_152423.4			5/5		hmmpanther:PTHR31333,hmmpanther:PTHR31333:SF3																	LOW	1	SNV	3			1										PASS		.	.												T	2	4	62	106206983	106206983	G	T	1	0	0	0	0	0	0	0	1	9984	1306	46	2		2	MUM1L1	23	106206983	Silent	SNP	G	C3N-00580_TP	1952512	106206983	49833912	1026	20486											
DCAF12L1	0	.	GRCh38	chrX	126552377	126552377	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcagcctctgtaccgcgtAgccccgcagctcgccatcga	6	6	12	17	5	1	0	0	0	1	0	3	1	1	0	5	1	4	5	5	1	2	2	novel		C3N-00580_TP	C3N-00580_NB	A	A																c.232T>A	p.Tyr78Asn	p.Y78N	ENST00000371126	1/2	115	52	63	106	106	0	strelka-varscan-mutect	DCAF12L1,missense_variant,p.Tyr78Asn,ENST00000371126,NM_178470.4;	T	ENST00000371126	Transcript	missense_variant	475/3382	232/1392	78/463	Y/N	Tac/Aac		1		-1	DCAF12L1	HGNC	HGNC:29395	protein_coding	YES	CCDS14610.1	ENSP00000360167	Q5VU92		UPI0000160112	NM_178470.4	tolerated(0.08)		1/2		hmmpanther:PTHR19860,hmmpanther:PTHR19860:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	126552377	126552377	A	T	1	0	0	0	0	1	0	0	0	4065	420	15	4		4	DCAF12L1	23	126552377	Missense_Mutation	SNP	A	C3N-00580_TP	20345394	126552377	29488518	1027	20487											
PLAC1	0	.	GRCh38	chrX	134566469	134566469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtaacacggtaggtgaactGgtaggcgtgtggctgaacat	11	9	15	6	2	0	2	0	2	0	0	0	2	0	2	0	5	3	4	0	5	5	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.214C>A	p.Gln72Lys	p.Q72K	ENST00000359237	3/3	158	62	96	103	103	0	strelka-varscan-mutect	PLAC1,missense_variant,p.Gln72Lys,ENST00000359237,NM_021796.3;PLAC1,non_coding_transcript_exon_variant,,ENST00000476971,;PLAC1,downstream_gene_variant,,ENST00000473897,;	T	ENST00000359237	Transcript	missense_variant	500/1131	214/639	72/212	Q/K	Cag/Aag		1		-1	PLAC1	HGNC	HGNC:9044	protein_coding	YES	CCDS14642.1	ENSP00000352173	Q9HBJ0		UPI0000070F9F	NM_021796.3	tolerated(0.08)		3/3		hmmpanther:PTHR14380,hmmpanther:PTHR14380:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	134566469	134566469	G	T	1	0	0	0	0	1	0	0	0	12108	1357	47	2		2	PLAC1	23	134566469	Missense_Mutation	SNP	G	C3N-00580_TP	8014092	134566469	21474426	1028	20488											
SLITRK2	0	.	GRCh38	chrX	145822974	145822974	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttccgctttgtcctgctGacccacttagacctcagggg	5	12	11	13	1	1	2	1	1	0	1	3	2	3	2	4	2	1	3	4	2	1	3	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.549G>T	p.=	p.L183L	ENST00000370490	1/1	108	45	63	128	127	1	strelka-varscan-mutect	SLITRK2,synonymous_variant,p.=,ENST00000370490,NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2;SLITRK2,synonymous_variant,p.=,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,NM_004709.2;	T	ENST00000370490	Transcript	synonymous_variant	4804/7672	549/2538	183/845	L	ctG/ctT		1		1	SLITRK2	HGNC	HGNC:13449	protein_coding	YES	CCDS14680.1	ENSP00000359521	Q9H156		UPI000004E64B	NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2			1/1		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF36,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV				1										PASS		.	.												T	2	4	62	145822974	145822974	G	T	1	0	0	0	0	0	0	0	1	15034	1277	45	2		2	SLITRK2	23	145822974	Silent	SNP	G	C3N-00580_TP	11256505	145822974	10217921	1029	20489											
SLITRK2	0	.	GRCh38	chrX	145823907	145823907	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataatatatttggggggacGgccctaaccaggctgaatct	11	10	12	8	1	1	1	0	1	1	0	1	3	1	2	2	5	1	1	2	5	5	5	rs781908643		C3N-00580_TP	C3N-00580_NB	G	G																c.1482G>T	p.=	p.T494T	ENST00000370490	1/1	61	23	38	87	87	0	strelka-varscan-mutect	SLITRK2,synonymous_variant,p.=,ENST00000370490,NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2;SLITRK2,synonymous_variant,p.=,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,NM_004709.2;	T	ENST00000370490	Transcript	synonymous_variant	5737/7672	1482/2538	494/845	T	acG/acT	rs781908643	1		1	SLITRK2	HGNC	HGNC:13449	protein_coding	YES	CCDS14680.1	ENSP00000359521	Q9H156		UPI000004E64B	NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2			1/1		Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF36,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV				1										PASS		rs781908643	.												T	2	4	62	145823907	145823907	G	T	1	0	0	0	0	0	0	0	1	15034	1103	39	1		1	SLITRK2	23	145823907	Silent	SNP	G	C3N-00580_TP	933	145823907	10216988	1030	20490											
SLITRK2	0	.	GRCh38	chrX	145824469	145824469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agactcacgataaaacagacGgccatgtctacaactatatc	16	8	6	11	2	2	2	1	0	1	2	3	3	2	2	1	1	3	0	1	1	6	4			C3N-00580_TP	C3N-00580_NB	G	G																c.2044G>T	p.Gly682Cys	p.G682C	ENST00000370490	1/1	160	88	72	180	180	0	strelka-varscan-mutect	SLITRK2,missense_variant,p.Gly682Cys,ENST00000370490,NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2;SLITRK2,missense_variant,p.Gly682Cys,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,NM_004709.2;	T	ENST00000370490	Transcript	missense_variant	6299/7672	2044/2538	682/845	G/C	Ggc/Tgc	COSM3233353,COSM375963,COSM5320877	1		1	SLITRK2	HGNC	HGNC:13449	protein_coding	YES	CCDS14680.1	ENSP00000359521	Q9H156		UPI000004E64B	NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2	deleterious(0)		1/1		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF36											1,1,1						MODERATE	1	SNV			1,1,1	1										PASS		.	.												T	3	4	62	145824469	145824469	G	T	1	0	0	0	0	1	0	0	0	15034	1116	39	1		1	SLITRK2	23	145824469	Missense_Mutation	SNP	G	C3N-00580_TP	562	145824469	10216426	1031	20491											
MAGEA11	0	.	GRCh38	chrX	149716605	149716605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtacctggtgtaccggcaGgtgcccggcactgatcctgc	7	8	13	13	2	0	1	0	1	0	0	1	1	1	1	4	4	4	4	4	4	3	2	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.1119G>T	p.Gln373His	p.Q373H	ENST00000355220	5/5	222	57	165	107	107	0	strelka-varscan-mutect	MAGEA11,missense_variant,p.Gln373His,ENST00000355220,NM_005366.4;MAGEA11,missense_variant,p.Gln344His,ENST00000333104,NM_001011544.1;MAGEA11,downstream_gene_variant,,ENST00000412632,;MAGEA11,non_coding_transcript_exon_variant,,ENST00000518694,;	T	ENST00000355220	Transcript	missense_variant	1221/1864	1119/1290	373/429	Q/H	caG/caT		1		1	MAGEA11	HGNC	HGNC:6798	protein_coding	YES	CCDS48180.1	ENSP00000347358	P43364		UPI0000211BB0	NM_005366.4	deleterious(0)		5/5		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF71,Pfam_domain:PF01454,SMART_domains:SM01373																	MODERATE	1	SNV	1			1										PASS		rs782327063	.												T	3	4	62	149716605	149716605	G	T	1	0	0	0	0	1	0	0	0	9081	991	35	2		2	MAGEA11	23	149716605	Missense_Mutation	SNP	G	C3N-00580_TP	3892136	149716605	6324290	1032	20492											
MAGEA12	0	.	GRCh38	chrX	152736958	152736958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtccccggcagtgatcCtgcatgctacgagttcctgt	6	10	12	13	2	0	1	0	1	0	0	3	2	3	1	4	2	3	5	4	2	1	2			C3N-00580_TP	C3N-00580_NB	C	C																c.797C>A	p.Pro266His	p.P266H	ENST00000393900	3/3	557	452	105	294	294	0	strelka-varscan-mutect	MAGEA12,missense_variant,p.Pro266His,ENST00000393900,NM_001166386.3;MAGEA12,missense_variant,p.Pro266His,ENST00000393869,NM_001166387.3;MAGEA12,missense_variant,p.Pro266His,ENST00000357916,NM_005367.6;CSAG1,upstream_gene_variant,,ENST00000370291,;CSAG1,upstream_gene_variant,,ENST00000370287,NM_153478.2;CSAG1,upstream_gene_variant,,ENST00000452779,NM_001102576.2;CSAG4,intron_variant,,ENST00000361201,;CSAG1,upstream_gene_variant,,ENST00000361211,;CSAG4,upstream_gene_variant,,ENST00000583763,;	A	ENST00000393900	Transcript	missense_variant	1151/1853	797/945	266/314	P/H	cCt/cAt	COSM5412246	1		1	MAGEA12	HGNC	HGNC:6799	protein_coding	YES	CCDS76048.1	ENSP00000377478	P43365	Q6FHH8	UPI0000000C51	NM_001166386.3	deleterious(0.02)		3/3		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF74,Pfam_domain:PF01454,SMART_domains:SM01373											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	62	152736958	152736958	C	A	1	0	0	0	0	1	0	0	0	9082	681	24	2		2	MAGEA12	23	152736958	Missense_Mutation	SNP	C	C3N-00580_TP	3020353	152736958	3303937	1033	20493											
ATP2B3	0	.	GRCh38	chrX	153553086	153553086	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccggggctttcggcctcgGgaccgggacgacatggtgag	5	7	17	12	5	0	1	0	1	0	0	3	4	1	3	3	6	0	1	3	6	0	1			C3N-00580_TP	C3N-00580_NB	G	G																c.1875G>T	p.=	p.R625R	ENST00000263519	11/20	181	127	54	86	86	0	strelka-varscan-mutect	ATP2B3,synonymous_variant,p.=,ENST00000370186,;ATP2B3,synonymous_variant,p.=,ENST00000263519,NM_001001344.2;ATP2B3,synonymous_variant,p.=,ENST00000349466,;ATP2B3,synonymous_variant,p.=,ENST00000359149,NM_021949.3;ATP2B3,synonymous_variant,p.=,ENST00000393842,;ATP2B3,upstream_gene_variant,,ENST00000460549,;	T	ENST00000263519	Transcript	synonymous_variant	2001/6420	1875/3663	625/1220	R	cgG/cgT	COSM5412271,COSM5412272,COSM5412273,COSM5412274	1		1	ATP2B3	HGNC	HGNC:816	protein_coding	YES	CCDS35440.1	ENSP00000263519	Q16720		UPI00001AE881	NM_001001344.2			11/20		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF284,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01517,Superfamily_domains:SSF81660											1,1,1,1						LOW	1	SNV	1		1,1,1,1	1										PASS		.	.												T	2	4	62	153553086	153553086	G	T	1	0	0	0	0	0	0	0	1	1294	1219	43	2		2	ATP2B3	23	153553086	Silent	SNP	G	C3N-00580_TP	816128	153553086	2487809	1034	20494											
ATP2B3	0	.	GRCh38	chrX	153556951	153556951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accactggtgagcagcggcaGgtggtggctgtgacagggga	8	6	19	8	1	0	2	0	2	0	0	0	3	0	3	1	7	2	3	1	7	0	0	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.2361G>T	p.Gln787His	p.Q787H	ENST00000263519	14/20	432	80	352	305	305	0	strelka-varscan-mutect	ATP2B3,missense_variant,p.Gln773His,ENST00000370186,;ATP2B3,missense_variant,p.Gln787His,ENST00000263519,NM_001001344.2;ATP2B3,missense_variant,p.Gln787His,ENST00000349466,;ATP2B3,missense_variant,p.Gln787His,ENST00000359149,NM_021949.3;ATP2B3,missense_variant,p.Gln773His,ENST00000393842,;ATP2B3,non_coding_transcript_exon_variant,,ENST00000460549,;	T	ENST00000263519	Transcript	missense_variant	2487/6420	2361/3663	787/1220	Q/H	caG/caT		1		1	ATP2B3	HGNC	HGNC:816	protein_coding	YES	CCDS35440.1	ENSP00000263519	Q16720		UPI00001AE881	NM_001001344.2	deleterious(0)		14/20		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF284,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01517,TIGRFAM_domain:TIGR01494,Pfam_domain:PF08282,Superfamily_domains:SSF56784																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	62	153556951	153556951	G	T	1	0	0	0	0	1	0	0	0	1294	991	35	2		2	ATP2B3	23	153556951	Missense_Mutation	SNP	G	C3N-00580_TP	3865	153556951	2483944	1035	20495											
L1CAM	0	.	GRCh38	chrX	153872664	153872664	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagacaaccaggcgccgtGgagactgttccgtgatgaca	11	6	14	10	3	0	4	0	2	0	2	1	6	1	5	3	3	1	1	3	3	2	1	novel		C3N-00580_TP	C3N-00580_NB	G	G																c.125C>G	p.Pro42Arg	p.P42R	ENST00000370060	4/29	587	419	168	326	326	0	strelka-varscan-mutect	L1CAM,missense_variant,p.Pro42Arg,ENST00000370060,NM_001278116.1,NM_000425.4;L1CAM,missense_variant,p.Pro37Arg,ENST00000361981,NM_001143963.2;L1CAM,missense_variant,p.Pro37Arg,ENST00000370055,;L1CAM,missense_variant,p.Pro42Arg,ENST00000361699,NM_024003.3;L1CAM,missense_variant,p.Pro42Arg,ENST00000439496,;L1CAM,missense_variant,p.Pro42Arg,ENST00000458029,;L1CAM,missense_variant,p.Pro37Arg,ENST00000407935,;L1CAM,missense_variant,p.Pro37Arg,ENST00000420165,;L1CAM,upstream_gene_variant,,ENST00000455590,;L1CAM,non_coding_transcript_exon_variant,,ENST00000464967,;L1CAM,upstream_gene_variant,,ENST00000496122,;L1CAM,downstream_gene_variant,,ENST00000460553,;L1CAM,upstream_gene_variant,,ENST00000484652,;	C	ENST00000370060	Transcript	missense_variant	315/5113	125/3774	42/1257	P/R	cCa/cGa		1		-1	L1CAM	HGNC	HGNC:6470	protein_coding	YES	CCDS14733.1	ENSP00000359077	P32004		UPI0000126E89	NM_001278116.1,NM_000425.4	deleterious(0)		4/29		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF593,hmmpanther:PTHR10489,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	62	153872664	153872664	G	C	1	0	0	0	0	1	0	0	0	8489	1348	47	4		4	L1CAM	23	153872664	Missense_Mutation	SNP	G	C3N-00580_TP	315713	153872664	2168231	1036	20496											
ARHGAP4	0	.	GRCh38	chrX	153921713	153921713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctccacctcagcgcggCgccgcatgaactctgccagc	7	5	10	19	4	2	1	1	1	1	0	3	1	3	1	5	1	5	2	5	1	1	0			C3N-00580_TP	C3N-00580_NB	C	C																c.164G>T	p.Arg55Leu	p.R55L	ENST00000370028	2/23	492	406	86	357	357	0	strelka-varscan-mutect	ARHGAP4,missense_variant,p.Arg55Leu,ENST00000370028,NM_001164741.1;ARHGAP4,missense_variant,p.Arg55Leu,ENST00000350060,NM_001666.4;ARHGAP4,missense_variant,p.Arg55Leu,ENST00000370016,;ARHGAP4,missense_variant,p.Arg55Leu,ENST00000393721,;ARHGAP4,missense_variant,p.Arg32Leu,ENST00000461052,;ARHGAP4,missense_variant,p.Arg32Leu,ENST00000488269,;ARHGAP4,missense_variant,p.Arg32Leu,ENST00000442262,;ARHGAP4,missense_variant,p.Arg32Leu,ENST00000422091,;ARHGAP4,upstream_gene_variant,,ENST00000422918,;ARHGAP4,upstream_gene_variant,,ENST00000418750,;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000470979,;ARHGAP4,missense_variant,p.Arg55Leu,ENST00000404127,;ARHGAP4,missense_variant,p.Arg55Leu,ENST00000420383,;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000470209,;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000494302,;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000494813,;ARHGAP4,upstream_gene_variant,,ENST00000460782,;	A	ENST00000370028	Transcript	missense_variant	222/3372	164/2961	55/986	R/L	cGc/cTc	COSM5486785,COSM5486786	1		-1	ARHGAP4	HGNC	HGNC:674	protein_coding	YES	CCDS55540.1	ENSP00000359045	P98171		UPI000019275E	NM_001164741.1	deleterious(0)		2/23		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00611,PROSITE_profiles:PS51741,hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF16,SMART_domains:SM00055,Superfamily_domains:SSF103657											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	62	153921713	153921713	C	A	1	0	0	0	0	1	0	0	0	1011	768	27	1		1	ARHGAP4	23	153921713	Missense_Mutation	SNP	C	C3N-00580_TP	49049	153921713	2119182	1037	20497											
CCDC27	0	.	GRCh38	chr1	3766603	3766603	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attgaaaaggacaaccagctCctccgacaggtgacagcctg	13	6	10	12	1	0	2	0	2	0	0	2	4	2	3	4	2	3	1	4	2	3	1			C3N-00704_TP	C3N-00704_NB	C	C																c.1521C>G	p.=	p.L507L	ENST00000294600	9/12	191	166	25	229	229	0	strelka-varscan-mutect	CCDC27,synonymous_variant,p.=,ENST00000294600,NM_152492.2;CCDC27,3_prime_UTR_variant,,ENST00000462521,;	G	ENST00000294600	Transcript	synonymous_variant	1605/2176	1521/1971	507/656	L	ctC/ctG	COSM5629009	1		1	CCDC27	HGNC	HGNC:26546	protein_coding	YES	CCDS50.1	ENSP00000294600	Q2M243		UPI000013E186	NM_152492.2			9/12		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18853:SF8,hmmpanther:PTHR18853											1						LOW	1	SNV	1		1	1										PASS		.	.												G	2	3	63	3766603	3766603	C	G	1	0	0	0	0	0	0	0	1	2511	842	30	4		4	CCDC27	1	3766603	Silent	SNP	C	C3N-00704_TP		3766603	245189819	1	20498											
PLEKHG5	0	.	GRCh38	chr1	6469046	6469046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgagcagacgtaccagtGctgagagtcggggctgccgc	8	7	15	11	3	1	3	1	2	0	2	2	4	1	3	2	2	4	4	2	2	1	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2482C>T	p.His828Tyr	p.H828Y	ENST00000537245	20/22	289	247	42	382	382	0	strelka-varscan-mutect	PLEKHG5,missense_variant,p.His826Tyr,ENST00000377748,NM_198681.3;PLEKHG5,missense_variant,p.His828Tyr,ENST00000537245,NM_001265592.1;PLEKHG5,missense_variant,p.His818Tyr,ENST00000535355,NM_001265593.1;PLEKHG5,missense_variant,p.His749Tyr,ENST00000340850,NM_001042664.1;PLEKHG5,missense_variant,p.His749Tyr,ENST00000400913,NM_001042665.1;PLEKHG5,missense_variant,p.His786Tyr,ENST00000377732,;PLEKHG5,missense_variant,p.His805Tyr,ENST00000400915,NM_001042663.1;PLEKHG5,missense_variant,p.His749Tyr,ENST00000377728,NM_020631.4;PLEKHG5,missense_variant,p.His826Tyr,ENST00000377740,;PLEKHG5,missense_variant,p.His749Tyr,ENST00000377725,NM_001265594.1;TNFRSF25,upstream_gene_variant,,ENST00000377782,NM_148965.1;TNFRSF25,upstream_gene_variant,,ENST00000356876,NM_003790.2;TNFRSF25,upstream_gene_variant,,ENST00000351959,NM_148966.1;TNFRSF25,upstream_gene_variant,,ENST00000348333,NM_148967.1;TNFRSF25,upstream_gene_variant,,ENST00000481401,;TNFRSF25,upstream_gene_variant,,ENST00000351748,NM_148970.1;TNFRSF25,upstream_gene_variant,,ENST00000461703,;PLEKHG5,non_coding_transcript_exon_variant,,ENST00000489097,;PLEKHG5,non_coding_transcript_exon_variant,,ENST00000487949,;TNFRSF25,upstream_gene_variant,,ENST00000513135,;TNFRSF25,upstream_gene_variant,,ENST00000485036,;TNFRSF25,upstream_gene_variant,,ENST00000480393,;TNFRSF25,upstream_gene_variant,,ENST00000414040,;TNFRSF25,upstream_gene_variant,,ENST00000510563,;TNFRSF25,upstream_gene_variant,,ENST00000502588,;TNFRSF25,upstream_gene_variant,,ENST00000502730,;TNFRSF25,upstream_gene_variant,,ENST00000469691,;TNFRSF25,upstream_gene_variant,,ENST00000453341,;TNFRSF25,upstream_gene_variant,,ENST00000515145,;	A	ENST00000537245	Transcript	missense_variant	2547/4794	2482/3258	828/1085	H/Y	Cac/Tac		1		-1	PLEKHG5	HGNC	HGNC:29105	protein_coding	YES	CCDS57969.1	ENSP00000439625	O94827		UPI000206539E	NM_001265592.1	deleterious(0.03)		20/22		hmmpanther:PTHR13217,hmmpanther:PTHR13217:SF9																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	63	6469046	6469046	G	A	1	0	0	0	0	1	0	0	0	12166	1333	46	3		3	PLEKHG5	1	6469046	Missense_Mutation	SNP	G	C3N-00704_TP	2702443	6469046	242487376	2	20499											
VPS13D	0	.	GRCh38	chr1	12354202	12354202	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctccatacagctgatacAtcccagaacattgagctggg	11	9	9	12	0	1	3	0	2	1	1	3	3	2	3	2	1	5	3	2	1	3	3	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.9660A>G	p.=	p.T3220T	ENST00000620676	47/70	160	138	22	182	182	0	strelka-varscan-mutect	VPS13D,synonymous_variant,p.=,ENST00000620676,NM_015378.3;VPS13D,synonymous_variant,p.=,ENST00000613099,NM_018156.3;VPS13D,synonymous_variant,p.=,ENST00000011700,;VPS13D,downstream_gene_variant,,ENST00000469054,;VPS13D,non_coding_transcript_exon_variant,,ENST00000460333,;	G	ENST00000620676	Transcript	synonymous_variant	9790/16320	9660/13167	3220/4388	T	acA/acG		1		1	VPS13D	HGNC	HGNC:23595	protein_coding	YES	CCDS30588.1	ENSP00000478104	Q5THJ4		UPI0000451CA9	NM_015378.3			47/70		hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF104																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	63	12354202	12354202	A	G	1	0	0	0	0	0	0	0	1	17739	204	8	5		5	VPS13D	1	12354202	Silent	SNP	A	C3N-00704_TP	5885156	12354202	236602220	3	20500											
KAZN	0	.	GRCh38	chr1	15104128	15104128	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctgggcatccccagtGggaagcacatcctccggaga	8	6	12	15	1	0	1	0	0	0	1	3	3	3	2	5	3	2	2	5	3	1	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1987G>C	p.Gly663Arg	p.G663R	ENST00000376030	13/15	217	177	40	265	265	0	strelka-varscan-mutect	KAZN,missense_variant,p.Gly751Arg,ENST00000636203,;KAZN,missense_variant,p.Gly663Arg,ENST00000376030,NM_201628.2;	C	ENST00000376030	Transcript	missense_variant	2281/6030	1987/2328	663/775	G/R	Ggg/Cgg		1		1	KAZN	HGNC	HGNC:29173	protein_coding	YES	CCDS152.2	ENSP00000365198	Q674X7		UPI0000E1E68A	NM_201628.2	deleterious(0.03)		13/15		Pfam_domain:PF07647,hmmpanther:PTHR12776,hmmpanther:PTHR12776:SF1,SMART_domains:SM00454																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	63	15104128	15104128	G	C	1	0	0	0	0	1	0	0	0	7907	1348	47	4		4	KAZN	1	15104128	Missense_Mutation	SNP	G	C3N-00704_TP	2749926	15104128	233852294	4	20501											
CELA2A	0	.	GRCh38	chr1	15467478	15467478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtctcgcctcggctgcaaCtactaccacaagccctccgt	7	8	9	17	3	1	0	0	0	1	0	4	0	2	0	4	2	5	2	4	2	4	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.732C>A	p.Asn244Lys	p.N244K	ENST00000359621	7/8	284	235	49	372	372	0	strelka-varscan-mutect	CELA2A,missense_variant,p.Asn244Lys,ENST00000359621,NM_033440.2;CELA2B,non_coding_transcript_exon_variant,,ENST00000494280,;CELA2A,downstream_gene_variant,,ENST00000459653,;	A	ENST00000359621	Transcript	missense_variant	757/919	732/810	244/269	N/K	aaC/aaA		1		1	CELA2A	HGNC	HGNC:24609	protein_coding	YES	CCDS157.1	ENSP00000352639	P08217		UPI0000129E36	NM_033440.2	deleterious(0.01)		7/8		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF18,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs1480303890	.												A	3	1	63	15467478	15467478	C	A	1	0	0	0	0	1	0	0	0	2918	564	20	2		2	CELA2A	1	15467478	Missense_Mutation	SNP	C	C3N-00704_TP	363350	15467478	233488944	5	20502											
CLCNKB	0	.	GRCh38	chr1	16053702	16053702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacactggccaaggacatGccactggaggaggtggtcaa	12	5	13	11	0	1	0	1	0	0	0	1	3	1	3	3	6	1	0	3	6	2	0	rs751162013		C3N-00704_TP	C3N-00704_NB	G	G																c.1686G>T	p.Met562Ile	p.M562I	ENST00000375679	16/20	390	327	63	505	505	0	strelka-varscan-mutect	CLCNKB,missense_variant,p.Met562Ile,ENST00000375679,NM_000085.4;CLCNKB,missense_variant,p.Met393Ile,ENST00000375667,NM_001165945.2;CLCNKB,missense_variant,p.Met51Ile,ENST00000431772,;CLCNKB,intron_variant,,ENST00000619181,;FAM131C,downstream_gene_variant,,ENST00000375662,NM_182623.2;FAM131C,downstream_gene_variant,,ENST00000494078,;	T	ENST00000375679	Transcript	missense_variant	1797/2567	1686/2064	562/687	M/I	atG/atT	rs751162013	1		1	CLCNKB	HGNC	HGNC:2027	protein_coding	YES	CCDS168.1	ENSP00000364831	P51801		UPI000040E261	NM_000085.4	tolerated(0.23)		16/20		PROSITE_profiles:PS51371,hmmpanther:PTHR11689:SF95,hmmpanther:PTHR11689,Gene3D:3.10.580.10,Pfam_domain:PF00571,SMART_domains:SM00116,Superfamily_domains:SSF54631																	MODERATE	1	SNV	1			1										PASS		rs751162013	.												T	3	4	63	16053702	16053702	G	T	1	0	0	0	0	1	0	0	0	3234	1319	46	2		2	CLCNKB	1	16053702	Missense_Mutation	SNP	G	C3N-00704_TP	586224	16053702	232902720	6	20503											
PADI6	0	.	GRCh38	chr1	17381135	17381135	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggccagcaacttgaggacaAgaaaaccaagaaagtgatct	17	5	11	8	0	1	4	0	2	1	2	1	5	1	5	2	2	3	1	2	2	6	1	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.524A>T	p.Lys175Met	p.K175M	ENST00000619609	5/16	224	190	34	225	225	0	strelka-varscan-mutect	PADI6,missense_variant,p.Lys175Met,ENST00000619609,NM_207421.4;	T	ENST00000619609	Transcript	missense_variant	574/2396	524/2085	175/694	K/M	aAg/aTg		1		1	PADI6	HGNC	HGNC:20449	protein_coding	YES	CCDS72715.1	ENSP00000483125	Q6TGC4		UPI0000253BE7	NM_207421.4	tolerated(0.23)		5/16		hmmpanther:PTHR10837:SF4,hmmpanther:PTHR10837,PIRSF_domain:PIRSF001247,Pfam_domain:PF08527,Superfamily_domains:0044952,PD936484																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	17381135	17381135	A	T	1	0	0	0	0	1	0	0	0	11459	72	3	4		4	PADI6	1	17381135	Missense_Mutation	SNP	A	C3N-00704_TP	1327433	17381135	231575287	7	20504											
UBR4	0	.	GRCh38	chr1	19199725	19199725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattagaactttacaggctgCtgccactgactgaagttggt	11	12	10	8	0	0	3	0	2	0	1	0	3	0	3	1	2	4	3	1	2	5	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.304G>T	p.Ala102Ser	p.A102S	ENST00000375254	3/106	343	303	40	344	344	0	strelka-varscan-mutect	UBR4,missense_variant,p.Ala102Ser,ENST00000375254,NM_020765.2;	A	ENST00000375254	Transcript	missense_variant	332/15906	304/15552	102/5183	A/S	Gca/Tca		1		-1	UBR4	HGNC	HGNC:30313	protein_coding	YES	CCDS189.1	ENSP00000364403	Q5T4S7		UPI000021276F	NM_020765.2	tolerated(0.24)		3/106																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	19199725	19199725	C	A	1	0	0	0	0	1	0	0	0	17428	797	28	2		2	UBR4	1	19199725	Missense_Mutation	SNP	C	C3N-00704_TP	1818590	19199725	229756697	8	20505											
ECE1	0	.	GRCh38	chr1	21272871	21272871	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcaagatggagctggtCactgagacacaagcttcgct	11	8	12	10	1	2	2	2	1	0	2	3	5	2	3	0	2	3	4	0	2	2	1	rs763873947		C3N-00704_TP	C3N-00704_NB	C	C																c.321G>T	p.=	p.V107V	ENST00000374893	4/19	489	407	82	578	578	0	strelka-varscan-mutect	ECE1,synonymous_variant,p.=,ENST00000415912,NM_001113348.1;ECE1,synonymous_variant,p.=,ENST00000357071,NM_001113347.1;ECE1,synonymous_variant,p.=,ENST00000374893,NM_001397.2;ECE1,synonymous_variant,p.=,ENST00000264205,NM_001113349.1;ECE1,synonymous_variant,p.=,ENST00000436918,;ECE1,synonymous_variant,p.=,ENST00000527991,;ECE1,synonymous_variant,p.=,ENST00000481130,;ECE1,5_prime_UTR_variant,,ENST00000473505,;ECE1,non_coding_transcript_exon_variant,,ENST00000463334,;ECE1,non_coding_transcript_exon_variant,,ENST00000526194,;	A	ENST00000374893	Transcript	synonymous_variant	396/2484	321/2313	107/770	V	gtG/gtT	rs763873947	1		-1	ECE1	HGNC	HGNC:3146	protein_coding	YES	CCDS215.1	ENSP00000364028	P42892	A0A024RAF7	UPI0000129B5E	NM_001397.2			4/19		hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF130,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		rs763873947	.												A	2	1	63	21272871	21272871	C	A	1	0	0	0	0	0	0	0	1	4715	813	29	2		2	ECE1	1	21272871	Silent	SNP	C	C3N-00704_TP	2073146	21272871	227683551	9	20506											
TCEB3	0	.	GRCh38	chr1	23754178	23754178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagatgcaggtgtattctgGttccaagtgtgcctatctcc	8	13	10	10	0	2	1	0	0	2	1	4	1	3	1	3	2	2	3	3	2	4	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1694G>T	p.Gly565Val	p.G565V	ENST00000418390	6/11	315	259	56	335	335	0	strelka-varscan-mutect	TCEB3,missense_variant,p.Gly565Val,ENST00000418390,;TCEB3,missense_variant,p.Gly565Val,ENST00000613537,NM_003198.2;TCEB3,missense_variant,p.Gly539Val,ENST00000609199,;TCEB3,downstream_gene_variant,,ENST00000487554,;	T	ENST00000418390	Transcript	missense_variant	1965/5154	1694/2397	565/798	G/V	gGt/gTt		1		1	TCEB3	HGNC	HGNC:11620	protein_coding	YES	CCDS239.2	ENSP00000395574	Q14241		UPI000181BA17		deleterious(0)		6/11		hmmpanther:PTHR15141,hmmpanther:PTHR15141:SF46																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	23754178	23754178	G	T	1	0	0	0	0	1	0	0	0	16088	1261	44	2		2	TCEB3	1	23754178	Missense_Mutation	SNP	G	C3N-00704_TP	2481307	23754178	225202244	10	20507											
TRIM63	0	.	GRCh38	chr1	26061198	26061198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagacactctgcaatggggCcacctcgcaggccttgtgga	9	7	13	12	1	1	1	0	0	1	1	2	3	1	2	3	4	1	2	3	4	2	1			C3N-00704_TP	C3N-00704_NB	C	C																c.469G>T	p.Ala157Ser	p.A157S	ENST00000374272	3/9	160	137	23	189	188	1	strelka-varscan-mutect	TRIM63,missense_variant,p.Ala157Ser,ENST00000374272,NM_032588.3;TRIM63,downstream_gene_variant,,ENST00000483052,;	A	ENST00000374272	Transcript	missense_variant	608/1770	469/1062	157/353	A/S	Gcc/Tcc	COSM117486	1		-1	TRIM63	HGNC	HGNC:16007	protein_coding	YES	CCDS273.1	ENSP00000363390	Q969Q1		UPI00000437F6	NM_032588.3	tolerated(0.19)		3/9		Gene3D:1freA00,PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF279,SMART_domains:SM00336,Superfamily_domains:SSF57845											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	63	26061198	26061198	C	A	1	0	0	0	0	1	0	0	0	17030	739	26	2		2	TRIM63	1	26061198	Missense_Mutation	SNP	C	C3N-00704_TP	2307020	26061198	222895224	11	20508											
WDTC1	0	.	GRCh38	chr1	27303779	27303779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccacggatatcaaagagGccaatttctttggcaggtcc	11	9	9	12	1	2	1	1	0	1	1	3	2	3	2	4	4	0	1	4	4	3	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1627G>T	p.Ala543Ser	p.A543S	ENST00000319394	14/16	455	387	68	512	512	0	strelka-varscan-mutect	WDTC1,missense_variant,p.Ala543Ser,ENST00000319394,NM_001276252.1;WDTC1,missense_variant,p.Ala542Ser,ENST00000361771,NM_015023.4;WDTC1,missense_variant,p.Ala543Ser,ENST00000447062,;WDTC1,non_coding_transcript_exon_variant,,ENST00000491239,;WDTC1,upstream_gene_variant,,ENST00000472249,;	T	ENST00000319394	Transcript	missense_variant	2162/4819	1627/2034	543/677	A/S	Gcc/Tcc		1		1	WDTC1	HGNC	HGNC:29175	protein_coding	YES	CCDS60044.1	ENSP00000317971	Q8N5D0		UPI000004814E	NM_001276252.1	deleterious(0.01)		14/16		Gene3D:2.130.10.10,Pfam_domain:PF00400,hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF40,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	27303779	27303779	G	T	1	0	0	0	0	1	0	0	0	17899	1203	42	2		2	WDTC1	1	27303779	Missense_Mutation	SNP	G	C3N-00704_TP	1242581	27303779	221652643	12	20509											
C1orf216	0	.	GRCh38	chr1	35716048	35716048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttctcaggctcagcccCgggaatctctgccccctctg	5	10	8	18	1	5	0	2	0	4	0	7	1	5	1	4	2	2	1	4	2	1	1	rs781489022		C3N-00704_TP	C3N-00704_NB	C	C																c.274G>T	p.Gly92Trp	p.G92W	ENST00000270815	2/2	269	226	43	301	301	0	strelka-varscan-mutect	C1orf216,missense_variant,p.Gly92Trp,ENST00000270815,NM_152374.1;CLSPN,downstream_gene_variant,,ENST00000251195,;C1orf216,downstream_gene_variant,,ENST00000503824,;C1orf216,downstream_gene_variant,,ENST00000453178,;	A	ENST00000270815	Transcript	missense_variant	1045/3218	274/690	92/229	G/W	Ggg/Tgg	rs781489022,COSM4856116	1		-1	C1orf216	HGNC	HGNC:26800	protein_coding	YES	CCDS395.1	ENSP00000425166	Q8TAB5		UPI000006D838	NM_152374.1	deleterious(0)		2/2		Pfam_domain:PF15546,hmmpanther:PTHR35673,hmmpanther:PTHR35673:SF1,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs781489022	.												A	3	1	63	35716048	35716048	C	A	1	0	0	0	0	1	0	0	0	1983	652	23	1		1	C1orf216	1	35716048	Missense_Mutation	SNP	C	C3N-00704_TP	8412269	35716048	213240374	13	20510											
CLSPN	0	.	GRCh38	chr1	35739196	35739196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgctgtgcagatccccatCagcaaggtacctctcttggt	8	11	9	13	1	2	1	1	0	1	1	5	1	3	1	3	2	3	4	3	2	2	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.3370G>A	p.Asp1124Asn	p.D1124N	ENST00000318121	20/25	390	349	41	433	433	0	strelka-varscan-mutect	CLSPN,missense_variant,p.Asp1124Asn,ENST00000251195,;CLSPN,missense_variant,p.Asp1124Asn,ENST00000318121,NM_022111.3;CLSPN,missense_variant,p.Asp1071Asn,ENST00000520551,;CLSPN,missense_variant,p.Asp1060Asn,ENST00000373220,NM_001190481.1;RP11-435D7.3,upstream_gene_variant,,ENST00000373226,;CLSPN,upstream_gene_variant,,ENST00000466308,;	T	ENST00000318121	Transcript	missense_variant	3428/4169	3370/4020	1124/1339	D/N	Gat/Aat		1		-1	CLSPN	HGNC	HGNC:19715	protein_coding	YES	CCDS396.1	ENSP00000312995	Q9HAW4		UPI0000161087	NM_022111.3	deleterious(0)		20/25		hmmpanther:PTHR14396:SF10,hmmpanther:PTHR14396																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	35739196	35739196	C	T	1	0	0	0	0	1	0	0	0	3332	826	29	3		3	CLSPN	1	35739196	Missense_Mutation	SNP	C	C3N-00704_TP	23148	35739196	213217226	14	20511											
UTP11	0	.	GRCh38	chr1	38018539	38018539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgatgagaactcaggacGtcaaatatatagaaatgaag	18	8	10	5	1	2	4	2	3	0	2	2	6	2	5	0	1	2	1	0	1	7	3	rs143106814		C3N-00704_TP	C3N-00704_NB	G	G																c.304G>T	p.Val102Phe	p.V102F	ENST00000373014	4/8	92	72	20	169	169	0	strelka-varscan-mutect	UTP11,missense_variant,p.Val102Phe,ENST00000373014,NM_016037.3;UTP11,non_coding_transcript_exon_variant,,ENST00000488453,;UTP11,non_coding_transcript_exon_variant,,ENST00000483182,;UTP11,downstream_gene_variant,,ENST00000486563,;	T	ENST00000373014	Transcript	missense_variant	365/2019	304/762	102/253	V/F	Gtc/Ttc	rs143106814,COSM909095	1		1	UTP11	HGNC	HGNC:24329	protein_coding	YES	CCDS429.1	ENSP00000362105	Q9Y3A2		UPI000006FDFC	NM_016037.3	deleterious(0.04)		4/8		Pfam_domain:PF03998,PIRSF_domain:PIRSF015952,hmmpanther:PTHR12838											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs143106814	.												T	3	4	63	38018539	38018539	G	T	1	0	0	0	0	1	0	0	0	17637	1145	40	1		1	UTP11	1	38018539	Missense_Mutation	SNP	G	C3N-00704_TP	2279343	38018539	210937883	15	20512											
COL9A2	0	.	GRCh38	chr1	40312097	40312097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatctcaccagggaggccaaCaggtccaggaggcccctggg	10	4	14	13	0	1	0	1	0	1	0	3	2	2	2	5	6	1	0	5	6	2	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.379G>T	p.Val127Phe	p.V127F	ENST00000372748	8/32	285	244	41	279	279	0	strelka-varscan-mutect	COL9A2,missense_variant,p.Val127Phe,ENST00000372748,NM_001852.3;COL9A2,missense_variant,p.Val116Phe,ENST00000417105,;COL9A2,missense_variant,p.Val56Phe,ENST00000372736,;COL9A2,downstream_gene_variant,,ENST00000490132,;COL9A2,downstream_gene_variant,,ENST00000495948,;COL9A2,non_coding_transcript_exon_variant,,ENST00000482722,;COL9A2,non_coding_transcript_exon_variant,,ENST00000488463,;COL9A2,non_coding_transcript_exon_variant,,ENST00000496215,;COL9A2,downstream_gene_variant,,ENST00000461118,;	A	ENST00000372748	Transcript	missense_variant	476/2862	379/2070	127/689	V/F	Gtt/Ttt		1		-1	COL9A2	HGNC	HGNC:2218	protein_coding	YES	CCDS450.1	ENSP00000361834	Q14055		UPI0000126D47	NM_001852.3	tolerated(0.09)		8/32		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF513,hmmpanther:PTHR24023,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		rs1331964044	.												A	3	1	63	40312097	40312097	C	A	1	0	0	0	0	1	0	0	0	3497	478	17	2		2	COL9A2	1	40312097	Missense_Mutation	SNP	C	C3N-00704_TP	2293558	40312097	208644325	16	20513											
TRABD2B	0	.	GRCh38	chr1	47994119	47994119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttcttcatcttctcaGcctgctgggccaggtagagg	5	13	12	11	0	5	1	2	0	4	1	6	1	5	1	2	4	2	2	2	4	1	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.581C>A	p.Ala194Asp	p.A194D	ENST00000606738	2/7	253	203	50	282	281	1	strelka-varscan-mutect	TRABD2B,missense_variant,p.Ala194Asp,ENST00000606738,NM_001194986.1;TRABD2B,non_coding_transcript_exon_variant,,ENST00000435576,;	T	ENST00000606738	Transcript	missense_variant	687/7034	581/1554	194/517	A/D	gCt/gAt		1		-1	TRABD2B	HGNC	HGNC:44200	protein_coding	YES	CCDS58000.1	ENSP00000476820	A6NFA1		UPI00017BE8EF	NM_001194986.1	deleterious(0)		2/7		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31120:SF8,hmmpanther:PTHR31120,Pfam_domain:PF01963																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	47994119	47994119	G	T	1	0	0	0	0	1	0	0	0	16918	971	34	2		2	TRABD2B	1	47994119	Missense_Mutation	SNP	G	C3N-00704_TP	7682022	47994119	200962303	17	20514											
AGBL4	0	.	GRCh38	chr1	49045646	49045646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcttttgcaggctgtcaaGgtaatgttggaagcgagtgt	8	14	13	6	1	2	0	1	0	1	0	3	2	2	1	0	3	2	4	0	3	3	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.532C>T	p.Leu178Phe	p.L178F	ENST00000371839	5/14	288	242	46	319	318	1	strelka-varscan-mutect	AGBL4,missense_variant,p.Leu24Phe,ENST00000416121,;AGBL4,missense_variant,p.Leu178Phe,ENST00000371839,NM_032785.3;AGBL4,missense_variant,p.Leu178Phe,ENST00000371836,;AGBL4,missense_variant,p.Leu178Phe,ENST00000371838,;RP11-141A19.1,upstream_gene_variant,,ENST00000456002,;	A	ENST00000371839	Transcript	missense_variant	649/2947	532/1512	178/503	L/F	Ctt/Ttt		1		-1	AGBL4	HGNC	HGNC:25892	protein_coding	YES	CCDS44137.1	ENSP00000360905	Q5VU57		UPI00002042F9	NM_032785.3	deleterious(0)		5/14		Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR12756,SMART_domains:SM00631,Superfamily_domains:SSF53187																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	63	49045646	49045646	G	A	1	0	0	0	0	1	0	0	0	454	1000	35	3		3	AGBL4	1	49045646	Missense_Mutation	SNP	G	C3N-00704_TP	1051527	49045646	199910776	18	20515											
DMRTA2	0	.	GRCh38	chr1	50419073	50419073	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgcggcgggccccgcCtgcagcggcgcaggcagccc	4	2	19	16	5	0	0	0	0	0	0	0	1	0	1	4	6	4	3	4	6	0	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1221G>T	p.Gln407His	p.Q407H	ENST00000404795	3/3	75	59	16	79	79	0	strelka-varscan-mutect	DMRTA2,missense_variant,p.Gln407His,ENST00000404795,NM_032110.2;DMRTA2,missense_variant,p.Gln407His,ENST00000418121,;	A	ENST00000404795	Transcript	missense_variant	1614/3137	1221/1629	407/542	Q/H	caG/caT		1		-1	DMRTA2	HGNC	HGNC:13908	protein_coding	YES	CCDS44141.1	ENSP00000383909	Q96SC8		UPI00003D7962	NM_032110.2	tolerated_low_confidence(0.12)		3/3		hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF76,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	63	50419073	50419073	C	A	1	0	0	0	0	1	0	0	0	4396	680	24	2		2	DMRTA2	1	50419073	Missense_Mutation	SNP	C	C3N-00704_TP	1373427	50419073	198537349	19	20516											
FAF1	0	.	GRCh38	chr1	50539688	50539688	+	Missense_Mutation	SNP	C	C	A																															ttgagtccgaatggtttgtgCcacaacactgccaaagtgtc																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1309G>T	p.Ala437Ser	p.A437S	ENST00000396153	14/19	195	177	18	222	222	0	strelka-varscan-mutect	FAF1,missense_variant,p.Ala437Ser,ENST00000396153,NM_007051.2;FAF1,missense_variant,p.Ala277Ser,ENST00000371778,;FAF1,non_coding_transcript_exon_variant,,ENST00000472808,;FAF1,missense_variant,p.Ala243Ser,ENST00000494400,;	A	ENST00000396153	Transcript	missense_variant	1761/6817	1309/1953	437/650	A/S	Gca/Tca		1		-1	FAF1	HGNC	HGNC:3578	protein_coding	YES	CCDS554.1	ENSP00000379457	Q9UNN5		UPI0000032C67	NM_007051.2	tolerated(0.44)		14/19		hmmpanther:PTHR23322,hmmpanther:PTHR23322:SF29,SMART_domains:SM00594,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		rs1447431259	.												A	3	1	63	50539688	50539688	C	A	1	0	0	0	0	1	0	0	0	5241	739	26	2		2	FAF1	1	50539688	Missense_Mutation	SNP	C	C3N-00704_TP	120615	50539688	198416734	20	20517	433	2									
FAF1	0	.	GRCh38	chr1	50539689	50539689	+	Silent	SNP	C	C	T																															tgagtccgaatggtttgtgcCacaacactgccaaagtgtct																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1308G>A	p.=	p.V436V	ENST00000396153	14/19	197	179	18	222	222	0	strelka-varscan-mutect	FAF1,synonymous_variant,p.=,ENST00000396153,NM_007051.2;FAF1,synonymous_variant,p.=,ENST00000371778,;FAF1,non_coding_transcript_exon_variant,,ENST00000472808,;FAF1,synonymous_variant,p.=,ENST00000494400,;	T	ENST00000396153	Transcript	synonymous_variant	1760/6817	1308/1953	436/650	V	gtG/gtA		1		-1	FAF1	HGNC	HGNC:3578	protein_coding	YES	CCDS554.1	ENSP00000379457	Q9UNN5		UPI0000032C67	NM_007051.2			14/19		hmmpanther:PTHR23322,hmmpanther:PTHR23322:SF29,SMART_domains:SM00594,Superfamily_domains:SSF52833																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	63	50539689	50539689	C	T	1	0	0	0	0	0	0	0	1	5241	581	21	3		3	FAF1	1	50539689	Silent	SNP	C	C3N-00704_TP	1	50539689	198416733	21	20518	433	2									
BSND	0	.	GRCh38	chr1	54999349	54999349	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatctggagcatgtgcCagtgctaccccaaggtaggt	9	9	12	11	0	2	0	1	0	1	0	2	1	2	1	3	3	4	4	3	3	3	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.163C>T	p.Gln55Ter	p.Q55*	ENST00000371265	1/4	81	61	20	97	97	0	strelka-varscan-mutect	BSND,stop_gained,p.Gln55Ter,ENST00000371265,NM_057176.2;	T	ENST00000371265	Transcript	stop_gained	417/3472	163/963	55/320	Q/*	Cag/Tag		1		1	BSND	HGNC	HGNC:16512	protein_coding	YES	CCDS602.1	ENSP00000360312	Q8WZ55	Q5VU50	UPI000006DC8D	NM_057176.2			1/4		PD968187,Pfam_domain:PF15462,hmmpanther:PTHR28399,hmmpanther:PTHR28399:SF1																	HIGH	1	SNV	1			1										PASS		rs1486736339	.												T	4	4	63	54999349	54999349	C	T	1	0	0	0	0	0	1	0	0	1705	595	21	3		3	BSND	1	54999349	Nonsense_Mutation	SNP	C	C3N-00704_TP	4459660	54999349	193957073	22	20519											
TM2D1	0	.	GRCh38	chr1	61723784	61723784	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttggatctttacaaataTatgtaaaaaaaaaagttaag	19	15	5	2	0	1	0	0	0	1	0	1	1	1	1	0	1	1	2	0	1	10	8	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.167A>G	p.Tyr56Cys	p.Y56C	ENST00000606498	2/7	45	39	6	147	147	0	strelka-varscan-mutect	TM2D1,missense_variant,p.Tyr56Cys,ENST00000371177,;TM2D1,missense_variant,p.Tyr56Cys,ENST00000294613,;TM2D1,missense_variant,p.Tyr118Cys,ENST00000371180,;TM2D1,missense_variant,p.Tyr56Cys,ENST00000606498,NM_032027.2;TM2D1,splice_region_variant,,ENST00000371178,;TM2D1,intron_variant,,ENST00000488206,;TM2D1,intron_variant,,ENST00000468586,;TM2D1,intron_variant,,ENST00000496465,;TM2D1,intron_variant,,ENST00000494926,;	C	ENST00000606498	Transcript	missense_variant,splice_region_variant	188/969	167/624	56/207	Y/C	tAt/tGt		1		-1	TM2D1	HGNC	HGNC:24142	protein_coding	YES	CCDS65554.1	ENSP00000475700	Q9BX74		UPI000006D36C	NM_032027.2	deleterious(0)		2/7		hmmpanther:PTHR21016,hmmpanther:PTHR21016:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	63	61723784	61723784	T	C	1	0	0	0	0	1	0	0	0	16408	1420	49	5		5	TM2D1	1	61723784	Missense_Mutation	SNP	T	C3N-00704_TP	6724435	61723784	187232638	23	20520											
IL23R	0	.	GRCh38	chr1	67219682	67219682	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaagaaacaggcaaaaggTactggcagccttggagttca	14	7	12	8	0	2	1	2	0	0	1	2	2	2	2	1	4	3	4	1	4	5	3			C3N-00704_TP	C3N-00704_NB	T	T																c.907T>C	p.Tyr303His	p.Y303H	ENST00000347310	7/11	483	405	78	665	665	0	strelka-varscan-mutect	IL23R,missense_variant,p.Tyr303His,ENST00000347310,NM_144701.2;IL23R,missense_variant,p.Tyr100His,ENST00000637002,;IL23R,missense_variant,p.Tyr48His,ENST00000425614,;IL23R,5_prime_UTR_variant,,ENST00000395227,;C1orf141,intron_variant,,ENST00000371007,NM_001276351.1;C1orf141,intron_variant,,ENST00000448166,;IL23R,missense_variant,p.Tyr48His,ENST00000473881,;	C	ENST00000347310	Transcript	missense_variant	1078/2912	907/1890	303/629	Y/H	Tac/Cac	COSM5659033	1		1	IL23R	HGNC	HGNC:19100	protein_coding	YES	CCDS637.1	ENSP00000321345	Q5VWK5		UPI000004CACD	NM_144701.2	tolerated(0.27)		7/11		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF112,Superfamily_domains:SSF49265											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	63	67219682	67219682	T	C	1	0	0	0	0	1	0	0	0	7579	1638	57	5		5	IL23R	1	67219682	Missense_Mutation	SNP	T	C3N-00704_TP	5495898	67219682	181736740	24	20521											
DEPDC1	0	.	GRCh38	chr1	68482723	68482723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttatctgtagtctctcaGtagaatctgattcttctttg	7	19	7	8	0	6	2	1	1	5	1	7	2	6	2	0	0	1	3	0	0	4	6	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1085C>G	p.Thr362Ser	p.T362S	ENST00000456315	8/12	85	74	11	147	147	0	strelka-varscan-mutect	DEPDC1,missense_variant,p.Thr362Ser,ENST00000456315,NM_001114120.2;DEPDC1,intron_variant,,ENST00000370966,NM_017779.5;DEPDC1,downstream_gene_variant,,ENST00000525124,;RP4-694A7.2,intron_variant,,ENST00000425820,;DEPDC1,missense_variant,p.Thr275Ser,ENST00000489862,;DEPDC1,upstream_gene_variant,,ENST00000488146,;	C	ENST00000456315	Transcript	missense_variant	1200/5331	1085/2436	362/811	T/S	aCt/aGt		1		-1	DEPDC1	HGNC	HGNC:22949	protein_coding	YES	CCDS44159.1	ENSP00000412292	Q5TB30		UPI0000204557	NM_001114120.2	tolerated(0.84)		8/12																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	63	68482723	68482723	G	C	1	0	0	0	0	1	0	0	0	4245	1029	36	4		4	DEPDC1	1	68482723	Missense_Mutation	SNP	G	C3N-00704_TP	1263041	68482723	180473699	25	20522											
LRRC7	0	.	GRCh38	chr1	70023145	70023145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatctctcctgccaagcccCctgggaaaggggccagcgtg	7	6	14	14	1	1	0	0	0	1	0	3	2	2	2	5	4	3	0	5	4	2	0	rs752772068		C3N-00704_TP	C3N-00704_NB	C	C																c.1451C>T	p.Pro484Leu	p.P484L	ENST00000035383	15/25	29	25	4	24	24	0	strelka-mutect	LRRC7,missense_variant,p.Pro489Leu,ENST00000310961,;LRRC7,missense_variant,p.Pro484Leu,ENST00000035383,NM_020794.2;LRRC7,intron_variant,,ENST00000415775,;RP11-181B18.1,intron_variant,,ENST00000414132,;RP11-181B18.1,upstream_gene_variant,,ENST00000425754,;	T	ENST00000035383	Transcript	missense_variant	1481/5000	1451/4614	484/1537	P/L	cCc/cTc	rs752772068	1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2	tolerated(0.25)		15/25																			MODERATE	1	SNV	1			1										PASS		rs752772068	.												T	3	4	63	70023145	70023145	C	T	1	0	0	0	0	1	0	0	0	8916	623	22	3		3	LRRC7	1	70023145	Missense_Mutation	SNP	C	C3N-00704_TP	1540422	70023145	178933277	26	20523											
LRRC7	0	.	GRCh38	chr1	70038591	70038591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaaggaatctactgaaataCctagtcctttttctccaggc	12	13	6	10	0	2	1	0	1	2	0	4	2	3	2	3	2	2	0	3	2	7	6	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2653C>T	p.Pro885Ser	p.P885S	ENST00000035383	19/25	255	211	44	298	298	0	strelka-varscan-mutect	LRRC7,missense_variant,p.Pro890Ser,ENST00000310961,;LRRC7,missense_variant,p.Pro885Ser,ENST00000035383,NM_020794.2;LRRC7,missense_variant,p.Pro169Ser,ENST00000415775,;	T	ENST00000035383	Transcript	missense_variant	2683/5000	2653/4614	885/1537	P/S	Cct/Tct		1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2	tolerated_low_confidence(0.22)		19/25																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	70038591	70038591	C	T	1	0	0	0	0	1	0	0	0	8916	507	18	3		3	LRRC7	1	70038591	Missense_Mutation	SNP	C	C3N-00704_TP	15446	70038591	178917831	27	20524											
LRRC40	0	.	GRCh38	chr1	70184784	70184784	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattggaaaatcagaacttaCtaaatcttctaaattggaaa	19	12	5	5	0	3	1	1	0	2	1	3	3	3	3	0	2	2	0	0	2	10	6	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.537+1G>A		p.X179_splice	ENST00000370952		46	42	4	170	170	0	strelka-varscan-mutect	LRRC40,splice_donor_variant,,ENST00000370952,NM_017768.4;RN7SL242P,upstream_gene_variant,,ENST00000491451,;	T	ENST00000370952	Transcript	splice_donor_variant	-/2884	537/1809	179/602				1		-1	LRRC40	HGNC	HGNC:26004	protein_coding	YES	CCDS646.1	ENSP00000359990	Q9H9A6	A0A140VJN3	UPI000004A0A0	NM_017768.4				4/14																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	63	70184784	70184784	C	T	1	0	0	0	0	0	0	1	0	8894	579	20	3		3	LRRC40	1	70184784	Splice_Site	SNP	C	C3N-00704_TP	146193	70184784	178771638	28	20525											
SRSF11	0	.	GRCh38	chr1	70232212	70232212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattttctgggtgtttttGtgtgttttctgtcttagaaa	6	21	10	4	0	3	1	0	0	3	1	3	2	3	1	0	1	0	2	0	1	2	7	rs759175040		C3N-00704_TP	C3N-00704_NB	G	G																c.102G>T	p.Leu34Phe	p.L34F	ENST00000370949	1/10	258	222	36	375	373	2	strelka-varscan-mutect	SRSF11,missense_variant,p.Leu34Phe,ENST00000370949,;SRSF11,intron_variant,,ENST00000370950,NM_004768.3;SRSF11,intron_variant,,ENST00000370951,NM_001190987.1;SRSF11,intron_variant,,ENST00000395136,;SRSF11,intron_variant,,ENST00000484162,;SRSF11,intron_variant,,ENST00000486667,;SRSF11,intron_variant,,ENST00000481648,;SRSF11,downstream_gene_variant,,ENST00000463116,;SRSF11,downstream_gene_variant,,ENST00000469170,;SRSF11,downstream_gene_variant,,ENST00000463877,;SRSF11,intron_variant,,ENST00000473950,;SRSF11,intron_variant,,ENST00000475204,;	T	ENST00000370949	Transcript	missense_variant	665/3034	102/1275	34/424	L/F	ttG/ttT	rs759175040	1		1	SRSF11	HGNC	HGNC:10782	protein_coding			ENSP00000359987		Q5T757	UPI0000373D3B		tolerated_low_confidence(0.17)		1/10																			MODERATE		SNV	1			1										PASS		rs759175040	.												T	3	4	63	70232212	70232212	G	T	1	0	0	0	0	1	0	0	0	15537	1368	48	2		2	SRSF11	1	70232212	Missense_Mutation	SNP	G	C3N-00704_TP	47428	70232212	178724210	29	20526											
LRRIQ3	0	.	GRCh38	chr1	74041532	74041532	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaattagtttttgtgtagCatattttttctgattcaaat	10	22	5	4	0	3	1	2	1	1	0	3	1	3	1	0	0	1	3	0	0	5	10	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1399G>T	p.Ala467Ser	p.A467S	ENST00000354431	7/8	53	42	11	134	133	1	strelka-varscan-mutect	LRRIQ3,missense_variant,p.Ala467Ser,ENST00000354431,NM_001105659.1;LRRIQ3,missense_variant,p.Ala467Ser,ENST00000395089,;LRRIQ3,intron_variant,,ENST00000417067,;LRRIQ3,intron_variant,,ENST00000415760,;	A	ENST00000354431	Transcript	missense_variant	1591/2849	1399/1875	467/624	A/S	Gct/Tct		1		-1	LRRIQ3	HGNC	HGNC:28318	protein_coding	YES	CCDS41350.1	ENSP00000346414	A6PVS8		UPI000155D493	NM_001105659.1	tolerated(0.62)		7/8																			MODERATE	1	SNV	5			1										PASS		rs1177821357	.												A	3	1	63	74041532	74041532	C	A	1	0	0	0	0	1	0	0	0	8936	710	25	2		2	LRRIQ3	1	74041532	Missense_Mutation	SNP	C	C3N-00704_TP	3809320	74041532	174914890	30	20527											
PRKACB	0	.	GRCh38	chr1	84185115	84185115	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cataggataattctaatttaTacatggttatggaatatgtc	14	16	7	4	0	1	0	0	0	1	0	2	2	1	2	0	3	1	1	0	3	8	9	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.493T>G	p.Tyr165Asp	p.Y165D	ENST00000370685	5/10	41	33	8	105	105	0	strelka-varscan-mutect	PRKACB,missense_variant,p.Tyr118Asp,ENST00000370689,NM_002731.3;PRKACB,missense_variant,p.Tyr165Asp,ENST00000370685,NM_182948.3;PRKACB,missense_variant,p.Tyr124Asp,ENST00000614872,NM_001242860.2;PRKACB,missense_variant,p.Tyr124Asp,ENST00000394838,;PRKACB,missense_variant,p.Tyr122Asp,ENST00000370682,NM_001242859.2;PRKACB,missense_variant,p.Tyr106Asp,ENST00000610703,NM_001242858.2;PRKACB,missense_variant,p.Tyr105Asp,ENST00000610457,NM_001242862.2;PRKACB,missense_variant,p.Tyr88Asp,ENST00000394839,NM_001242861.2;PRKACB,missense_variant,p.Tyr124Asp,ENST00000370680,NM_001300915.1;PRKACB,missense_variant,p.Tyr118Asp,ENST00000370688,NM_207578.2;PRKACB,missense_variant,p.Tyr125Asp,ENST00000446538,NM_001242857.2;PRKACB,missense_variant,p.Tyr121Asp,ENST00000450730,;PRKACB,missense_variant,p.Tyr106Asp,ENST00000370684,NM_001300917.1;PRKACB,missense_variant,p.Tyr113Asp,ENST00000413538,;PRKACB,missense_variant,p.Tyr105Asp,ENST00000417530,;PRKACB,missense_variant,p.Tyr114Asp,ENST00000432111,;PRKACB,missense_variant,p.Tyr122Asp,ENST00000436133,;PRKACB,non_coding_transcript_exon_variant,,ENST00000470673,;PRKACB,downstream_gene_variant,,ENST00000467507,;	G	ENST00000370685	Transcript	missense_variant	584/4481	493/1197	165/398	Y/D	Tac/Gac		1		1	PRKACB	HGNC	HGNC:9381	protein_coding	YES	CCDS693.1	ENSP00000359719	P22694		UPI00001A9CCB	NM_182948.3	deleterious(0)		5/10		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24353,hmmpanther:PTHR24353:SF74,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	63	84185115	84185115	T	G	1	0	0	0	0	1	0	0	0	12631	1406	49	5		5	PRKACB	1	84185115	Missense_Mutation	SNP	T	C3N-00704_TP	10143583	84185115	164771307	31	20528											
CLCA4	0	.	GRCh38	chr1	86567495	86567495	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactgttgaaaatggatcCtgggtggggatggttcactt	9	12	14	6	0	1	2	1	1	0	1	2	4	2	4	1	5	0	2	1	5	2	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1026C>A	p.=	p.S342S	ENST00000370563	7/14	183	159	24	236	235	1	strelka-varscan-mutect	CLCA4,synonymous_variant,p.=,ENST00000370563,NM_012128.3;RP4-651E10.4,downstream_gene_variant,,ENST00000456587,;CLCA4,upstream_gene_variant,,ENST00000496322,;	A	ENST00000370563	Transcript	synonymous_variant	1068/3211	1026/2760	342/919	S	tcC/tcA		1		1	CLCA4	HGNC	HGNC:2018	protein_coding	YES	CCDS41355.1	ENSP00000359594	Q14CN2		UPI00000389E8	NM_012128.3			7/14		PROSITE_profiles:PS50234,hmmpanther:PTHR10579:SF2,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868,Gene3D:3.40.50.410,Pfam_domain:PF00092,Pfam_domain:PF08434,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	63	86567495	86567495	C	A	1	0	0	0	0	0	0	0	1	3223	668	24	2		2	CLCA4	1	86567495	Silent	SNP	C	C3N-00704_TP	2382380	86567495	162388927	32	20529											
ZNF644	0	.	GRCh38	chr1	90938338	90938338	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcattttgtcacttgTggctatttgttctggtgata	6	19	10	6	0	2	1	1	1	1	0	2	1	2	1	0	2	2	4	0	2	2	7			C3N-00704_TP	C3N-00704_NB	T	T																c.3016A>T	p.Thr1006Ser	p.T1006S	ENST00000337393	3/6	160	132	28	199	199	0	strelka-varscan-mutect	ZNF644,missense_variant,p.Thr1006Ser,ENST00000337393,NM_201269.2;ZNF644,missense_variant,p.Thr1006Ser,ENST00000370440,;ZNF644,missense_variant,p.Thr578Ser,ENST00000621077,;ZNF644,intron_variant,,ENST00000347275,NM_016620.3;ZNF644,intron_variant,,ENST00000361321,NM_032186.4;ZNF644,intron_variant,,ENST00000467231,;ZNF644,upstream_gene_variant,,ENST00000479798,;ZNF644,downstream_gene_variant,,ENST00000498303,;	A	ENST00000337393	Transcript	missense_variant	3299/5763	3016/3984	1006/1327	T/S	Aca/Tca	COSM913143	1		-1	ZNF644	HGNC	HGNC:29222	protein_coding	YES	CCDS731.1	ENSP00000337008	Q9H582		UPI000004A010	NM_201269.2	tolerated(0.91)		3/6													1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	63	90938338	90938338	T	A	1	0	0	0	0	1	0	0	0	18633	1696	59	4		4	ZNF644	1	90938338	Missense_Mutation	SNP	T	C3N-00704_TP	4370843	90938338	158018084	33	20530											
BRDT	0	.	GRCh38	chr1	92005217	92005217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcagcagtcatcagaagCtcaagataaatccaaactct	17	8	5	11	0	5	2	4	0	1	2	6	2	6	2	1	0	3	2	1	0	5	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2705C>A	p.Ala902Asp	p.A902D	ENST00000399546	18/19	85	77	8	111	111	0	strelka-varscan-mutect	BRDT,missense_variant,p.Ala825Asp,ENST00000370389,NM_001242810.2;BRDT,missense_variant,p.Ala898Asp,ENST00000362005,NM_001242805.2,NM_207189.3;BRDT,missense_variant,p.Ala902Asp,ENST00000399546,NM_001242806.2;BRDT,missense_variant,p.Ala852Asp,ENST00000394530,NM_001242808.2,NM_001242807.2;BRDT,missense_variant,p.Ala898Asp,ENST00000402388,NM_001726.4;	A	ENST00000399546	Transcript	missense_variant	3054/3357	2705/2856	902/951	A/D	gCt/gAt		1		1	BRDT	HGNC	HGNC:1105	protein_coding	YES	CCDS72820.1	ENSP00000387822	Q58F21		UPI000292A27D	NM_001242806.2	tolerated(0.07)		18/19																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	63	92005217	92005217	C	A	1	0	0	0	0	1	0	0	0	1678	797	28	2		2	BRDT	1	92005217	Missense_Mutation	SNP	C	C3N-00704_TP	1066879	92005217	156951205	34	20531											
PLPPR5	0	.	GRCh38	chr1	98953281	98953281	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgactacttgtccagcatttAcaaagatatctgtagcaaac	14	12	6	9	0	1	2	0	1	1	1	2	2	2	2	1	0	5	3	1	0	6	6	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.410T>G	p.Val137Gly	p.V137G	ENST00000263177	3/6	294	231	63	329	329	0	strelka-varscan-mutect	PLPPR5,missense_variant,p.Val137Gly,ENST00000370188,NM_001010861.2;PLPPR5,missense_variant,p.Val137Gly,ENST00000263177,NM_001037317.1;	C	ENST00000263177	Transcript	missense_variant	632/3288	410/966	137/321	V/G	gTa/gGa		1		-1	PLPPR5	HGNC	HGNC:31703	protein_coding	YES	CCDS30778.1	ENSP00000263177	Q32ZL2		UPI0000048D53	NM_001037317.1	deleterious(0.01)		3/6		Gene3D:1.20.144.10,Pfam_domain:PF01569,hmmpanther:PTHR10165,hmmpanther:PTHR10165:SF17,SMART_domains:SM00014,Superfamily_domains:SSF48317,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	63	98953281	98953281	A	C	1	0	0	0	0	1	0	0	0	12213	391	14	5		5	PLPPR5	1	98953281	Missense_Mutation	SNP	A	C3N-00704_TP	6948064	98953281	150003141	35	20532											
SASS6	0	.	GRCh38	chr1	100107914	100107914	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttttgtttgtagctgatTaacgtgcttttctttctcgt	5	21	7	8	2	2	1	0	1	2	0	3	1	2	1	0	0	3	4	0	0	2	8	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.952A>T	p.Asn318Tyr	p.N318Y	ENST00000287482	9/17	197	177	20	357	357	0	strelka-varscan-mutect	SASS6,missense_variant,p.Asn318Tyr,ENST00000287482,NM_001304829.1,NM_194292.2;SASS6,non_coding_transcript_exon_variant,,ENST00000462159,;	A	ENST00000287482	Transcript	missense_variant	1093/3880	952/1974	318/657	N/Y	Aat/Tat		1		-1	SASS6	HGNC	HGNC:25403	protein_coding	YES	CCDS764.1	ENSP00000287482	Q6UVJ0		UPI00001BDF30	NM_001304829.1,NM_194292.2	deleterious(0)		9/17		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF279																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	100107914	100107914	T	A	1	0	0	0	0	1	0	0	0	14111	1754	61	4		4	SASS6	1	100107914	Missense_Mutation	SNP	T	C3N-00704_TP	1154633	100107914	148848508	36	20533											
COL11A1	0	.	GRCh38	chr1	102914766	102914766	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggaggtccagcagctcCaggtggaccagcttcccctt	7	8	11	15	0	0	0	0	0	0	0	3	2	3	2	6	4	3	3	6	4	0	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.3862G>T	p.Gly1288Ter	p.G1288*	ENST00000370096	51/67	303	250	53	324	323	1	strelka-varscan-mutect	COL11A1,stop_gained,p.Gly1300Ter,ENST00000358392,NM_080629.2;COL11A1,stop_gained,p.Gly1288Ter,ENST00000370096,NM_001854.3;COL11A1,stop_gained,p.Gly1249Ter,ENST00000353414,NM_001190709.1;COL11A1,stop_gained,p.Gly1172Ter,ENST00000512756,NM_080630.3;COL11A1,3_prime_UTR_variant,,ENST00000635193,;	A	ENST00000370096	Transcript	stop_gained	4175/7286	3862/5421	1288/1806	G/*	Gga/Tga		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3			51/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	63	102914766	102914766	C	A	1	0	0	0	0	0	1	0	0	3455	603	21	2		2	COL11A1	1	102914766	Nonsense_Mutation	SNP	C	C3N-00704_TP	2806852	102914766	146041656	37	20534											
NTNG1	0	.	GRCh38	chr1	107324414	107324414	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgccacttggaaggagtatCccaagcctctccaggttaac	10	9	9	13	0	1	0	0	0	1	0	3	2	2	2	4	3	3	2	4	3	4	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.379C>G	p.Pro127Ala	p.P127A	ENST00000370068	3/8	370	303	67	431	431	0	strelka-varscan-mutect	NTNG1,missense_variant,p.Pro127Ala,ENST00000370067,;NTNG1,missense_variant,p.Pro127Ala,ENST00000370068,;NTNG1,missense_variant,p.Pro127Ala,ENST00000370073,NM_001113226.1;NTNG1,missense_variant,p.Pro127Ala,ENST00000370071,NM_001113228.1;NTNG1,missense_variant,p.Pro127Ala,ENST00000370074,NM_014917.2;NTNG1,missense_variant,p.Pro127Ala,ENST00000370065,;NTNG1,missense_variant,p.Pro127Ala,ENST00000370066,;NTNG1,non_coding_transcript_exon_variant,,ENST00000477948,;NTNG1,non_coding_transcript_exon_variant,,ENST00000294649,;	G	ENST00000370068	Transcript	missense_variant	1225/4034	379/1620	127/539	P/A	Ccc/Gcc		1		1	NTNG1	HGNC	HGNC:23319	protein_coding	YES	CCDS44180.1	ENSP00000359085	Q9Y2I2		UPI0000458A3E		deleterious(0)		3/8		PROSITE_profiles:PS51117,hmmpanther:PTHR10574:SF28,hmmpanther:PTHR10574,Gene3D:2.60.120.260,Pfam_domain:PF00055,SMART_domains:SM00136																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	63	107324414	107324414	C	G	1	0	0	0	0	1	0	0	0	10769	855	30	4		4	NTNG1	1	107324414	Missense_Mutation	SNP	C	C3N-00704_TP	4409648	107324414	141632008	38	20535											
VAV3	0	.	GRCh38	chr1	107574172	107574172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcataccgagcgatggCaatgcccagcacttttggac	11	8	11	11	2	1	0	1	0	0	0	1	4	1	1	2	2	4	2	2	2	3	3			C3N-00704_TP	C3N-00704_NB	C	C																c.2377G>A	p.Ala793Thr	p.A793T	ENST00000370056	26/27	141	123	18	121	121	0	strelka-varscan-mutect	VAV3,missense_variant,p.Ala793Thr,ENST00000370056,NM_006113.4;VAV3,missense_variant,p.Ala821Thr,ENST00000527011,;VAV3,missense_variant,p.Ala233Thr,ENST00000415432,NM_001079874.1;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,non_coding_transcript_exon_variant,,ENST00000525460,;VAV3,3_prime_UTR_variant,,ENST00000529413,;	T	ENST00000370056	Transcript	missense_variant	2652/4990	2377/2544	793/847	A/T	Gcc/Acc	COSM1151780,COSM893319	1		-1	VAV3	HGNC	HGNC:12659	protein_coding	YES	CCDS785.1	ENSP00000359073	Q9UKW4		UPI0000138212	NM_006113.4	deleterious(0.02)		26/27		PROSITE_profiles:PS50002,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF97,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	63	107574172	107574172	C	T	1	0	0	0	0	1	0	0	0	17678	710	25	3		3	VAV3	1	107574172	Missense_Mutation	SNP	C	C3N-00704_TP	249758	107574172	141382250	39	20536											
PRPF38B	0	.	GRCh38	chr1	108699838	108699838	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagtgttgaaaaatcaaaaAaacgggaacatagtcccagc	19	6	8	8	1	1	1	1	1	0	0	2	2	2	2	1	1	3	1	1	1	7	2	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.1459A>T	p.Lys487Ter	p.K487*	ENST00000370025	6/6	114	90	24	138	138	0	strelka-varscan-mutect	PRPF38B,stop_gained,p.Lys376Ter,ENST00000370021,;PRPF38B,stop_gained,p.Lys487Ter,ENST00000370025,NM_018061.2;PRPF38B,downstream_gene_variant,,ENST00000370022,;PRPF38B,downstream_gene_variant,,ENST00000467302,;PRPF38B,downstream_gene_variant,,ENST00000485810,;	T	ENST00000370025	Transcript	stop_gained	1728/3693	1459/1641	487/546	K/*	Aaa/Taa		1		1	PRPF38B	HGNC	HGNC:25512	protein_coding	YES	CCDS788.1	ENSP00000359042	Q5VTL8		UPI000013CF13	NM_018061.2			6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR23142																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	63	108699838	108699838	A	T	1	0	0	0	0	0	1	0	0	12704	15	1	4		4	PRPF38B	1	108699838	Nonsense_Mutation	SNP	A	C3N-00704_TP	1125666	108699838	140256584	40	20537											
AKNAD1	0	.	GRCh38	chr1	108834962	108834962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcacagagctcctcgttgGgggcctcctgcggccctcct	3	9	12	17	2	1	1	1	0	0	1	5	1	4	1	5	3	2	3	5	3	0	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1631C>A	p.Pro544His	p.P544H	ENST00000370001	8/16	70	59	11	76	76	0	strelka-varscan-mutect	AKNAD1,missense_variant,p.Pro544His,ENST00000370001,NM_152763.4;AKNAD1,missense_variant,p.Pro544His,ENST00000369995,;AKNAD1,missense_variant,p.Pro514His,ENST00000369994,;RP11-475E11.9,downstream_gene_variant,,ENST00000357393,;AKNAD1,missense_variant,p.Pro544His,ENST00000461774,;AKNAD1,intron_variant,,ENST00000474186,;AKNAD1,downstream_gene_variant,,ENST00000472781,;AKNAD1,upstream_gene_variant,,ENST00000603450,;	T	ENST00000370001	Transcript	missense_variant	1900/3053	1631/2511	544/836	P/H	cCc/cAc		1		-1	AKNAD1	HGNC	HGNC:28398	protein_coding	YES	CCDS791.2	ENSP00000359018	Q5T1N1		UPI00004700A0	NM_152763.4	tolerated(0.6)		8/16		hmmpanther:PTHR21510,hmmpanther:PTHR21510:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	108834962	108834962	G	T	1	0	0	0	0	1	0	0	0	548	1232	43	2		2	AKNAD1	1	108834962	Missense_Mutation	SNP	G	C3N-00704_TP	135124	108834962	140121460	41	20538											
KCNA2	0	.	GRCh38	chr1	110604391	110604391	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcttcctccttgatgtagCcttcatcttcccgaaacatc	7	14	5	15	1	3	1	1	1	2	0	7	2	6	1	4	0	2	2	4	0	2	5	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.392G>T	p.Gly131Val	p.G131V	ENST00000633222	3/3	378	311	67	486	486	0	strelka-varscan-mutect	KCNA2,missense_variant,p.Gly131Val,ENST00000633222,;KCNA2,missense_variant,p.Gly131Val,ENST00000485317,;KCNA2,missense_variant,p.Gly131Val,ENST00000316361,NM_004974.3;KCNA2,missense_variant,p.Gly131Val,ENST00000369770,NM_001204269.1;KCNA2,intron_variant,,ENST00000525120,;	A	ENST00000633222	Transcript	missense_variant	1066/11877	392/1500	131/499	G/V	gGc/gTc		1		-1	KCNA2	HGNC	HGNC:6220	protein_coding	YES	CCDS827.1	ENSP00000487785	P16389		UPI00001279A1		deleterious(0)		3/3		Gene3D:3.30.710.10,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF23,SMART_domains:SM00225																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	63	110604391	110604391	C	A	1	0	0	0	0	1	0	0	0	7919	739	26	2		2	KCNA2	1	110604391	Missense_Mutation	SNP	C	C3N-00704_TP	1769429	110604391	138352031	42	20539											
HSD3B1	0	.	GRCh38	chr1	119514530	119514530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttataagaaggctcagcGagatctggcgtataagccac	12	9	10	10	2	3	2	1	0	2	2	3	3	3	2	1	2	2	2	1	2	5	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1007G>T	p.Arg336Leu	p.R336L	ENST00000369413	4/4	265	232	33	283	282	1	strelka-varscan-mutect	HSD3B1,missense_variant,p.Arg336Leu,ENST00000369413,NM_000862.2;HSD3B1,missense_variant,p.Arg336Leu,ENST00000528909,;HSD3B1,downstream_gene_variant,,ENST00000531340,;HSD3B1,downstream_gene_variant,,ENST00000492140,;	T	ENST00000369413	Transcript	missense_variant	1152/1676	1007/1122	336/373	R/L	cGa/cTa		1		1	HSD3B1	HGNC	HGNC:5217	protein_coding	YES	CCDS903.1	ENSP00000358421	P14060		UPI0000036BD2	NM_000862.2	deleterious(0)		4/4		Gene3D:3.40.50.720,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF378,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		rs1224855842	.												T	3	4	63	119514530	119514530	G	T	1	0	0	0	0	1	0	0	0	7284	1058	37	1		1	HSD3B1	1	119514530	Missense_Mutation	SNP	G	C3N-00704_TP	8910139	119514530	129441892	43	20540											
NBPF26	0	.	GRCh38	chr1	120810379	120810379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgaagagagcaaagtccCtgaggactcactggaggaat	14	6	13	8	0	1	3	1	2	0	1	2	8	2	6	1	3	1	1	1	3	3	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1385C>T	p.Pro462Leu	p.P462L	ENST00000620612	9/30	641	546	95	617	617	0	strelka-varscan-mutect	NBPF26,missense_variant,p.Pro462Leu,ENST00000620612,;NBPF26,missense_variant,p.Pro200Leu,ENST00000617913,;NBPF26,missense_variant,p.Pro200Leu,ENST00000611287,;NBPF26,missense_variant,p.Pro165Leu,ENST00000615145,;NBPF26,5_prime_UTR_variant,,ENST00000619748,;NBPF26,intron_variant,,ENST00000615219,;NBPF26,intron_variant,,ENST00000611702,;NBPF26,upstream_gene_variant,,ENST00000609741,;	T	ENST00000620612	Transcript	missense_variant	1614/4602	1385/4347	462/1448	P/L	cCt/cTt		1		1	NBPF26	HGNC	HGNC:49571	protein_coding	YES		ENSP00000481542		A0A087WY62			tolerated(0.18)		9/30		Pfam_domain:PF06758,PROSITE_profiles:PS51316,SMART_domains:SM01148																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	120810379	120810379	C	T	1	0	0	0	0	1	0	0	0	10211	681	24	3		3	NBPF26	1	120810379	Missense_Mutation	SNP	C	C3N-00704_TP	1295849	120810379	128146043	44	20541											
PDE4DIP	0	.	GRCh38	chr1	149005209	149005209	+	Frame_Shift_Del	DEL	G	G	-																															gtctagtctggaaagaccccGgaagctgagagctgttggca																								rs782516582		C3N-00704_TP	C3N-00704_NB	G	G																c.4188delG	p.Lys1397SerfsTer2	p.K1397Sfs*2	ENST00000369356	27/44	126	101	25	117	117	0	sindel-varindel	PDE4DIP,frameshift_variant,p.Lys1533SerfsTer2,ENST00000585156,;PDE4DIP,frameshift_variant,p.Lys1397SerfsTer2,ENST00000369356,NM_001198834.3;PDE4DIP,frameshift_variant,p.Lys1533SerfsTer2,ENST00000524974,;PDE4DIP,frameshift_variant,p.Lys1397SerfsTer2,ENST00000369354,NM_014644.5;PDE4DIP,frameshift_variant,p.Lys1353SerfsTer2,ENST00000618462,NM_001198832.2;RP4-791M13.5,downstream_gene_variant,,ENST00000531288,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,upstream_gene_variant,,ENST00000479369,;	-	ENST00000369356	Transcript	frameshift_variant	4478/8307	4187/7089	1396/2362	R/X	cGg/cg	rs782516582	1		1	PDE4DIP	HGNC	HGNC:15580	protein_coding	YES	CCDS72892.1	ENSP00000358363		A0A0A0MRM1	UPI000292EFC6	NM_001198834.3			27/44																			HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	63	149005209	149005209	G	-	1	0	1	0	1	0	0	0	0	11731	1116	39	0		0	PDE4DIP	1	149005209	Frame_Shift_Del	DEL	G	C3N-00704_TP	28194830	149005209	99951213	45	20542											
CERS2	0	.	GRCh38	chr1	150968154	150968154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacggaaccaacgctctacCtggcggccagagagcccgct	9	4	12	16	5	1	1	0	0	1	1	1	4	1	2	4	3	4	2	4	3	3	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.339G>T	p.Gln113His	p.Q113H	ENST00000271688	4/11	216	195	21	244	244	0	strelka-varscan-mutect	CERS2,missense_variant,p.Gln113His,ENST00000271688,NM_181746.3;CERS2,missense_variant,p.Gln113His,ENST00000368954,NM_022075.4;CERS2,missense_variant,p.Gln104His,ENST00000561294,;CERS2,missense_variant,p.Gln113His,ENST00000368949,;CERS2,missense_variant,p.Gln113His,ENST00000361419,;CERS2,missense_variant,p.Gln113His,ENST00000558062,;CERS2,missense_variant,p.Gln113His,ENST00000421609,;CERS2,missense_variant,p.Gln113His,ENST00000457392,;SETDB1,downstream_gene_variant,,ENST00000271640,NM_001145415.1;SETDB1,downstream_gene_variant,,ENST00000368969,NM_012432.3;SETDB1,downstream_gene_variant,,ENST00000498193,;CERS2,upstream_gene_variant,,ENST00000560793,;RP11-316M1.12,downstream_gene_variant,,ENST00000561111,;RP11-316M1.12,downstream_gene_variant,,ENST00000560481,;RP11-316M1.3,upstream_gene_variant,,ENST00000412838,;CERS2,non_coding_transcript_exon_variant,,ENST00000345896,;CERS2,non_coding_transcript_exon_variant,,ENST00000460664,;CERS2,non_coding_transcript_exon_variant,,ENST00000559020,;SETDB1,downstream_gene_variant,,ENST00000497314,;CERS2,upstream_gene_variant,,ENST00000482825,;SETDB1,downstream_gene_variant,,ENST00000533529,;CERS2,upstream_gene_variant,,ENST00000559660,;	A	ENST00000271688	Transcript	missense_variant	765/2544	339/1143	113/380	Q/H	caG/caT		1		-1	CERS2	HGNC	HGNC:14076	protein_coding	YES	CCDS973.1	ENSP00000271688	Q96G23		UPI0000001237	NM_181746.3	deleterious(0.02)		4/11		PROSITE_profiles:PS50071,hmmpanther:PTHR12560:SF7,hmmpanther:PTHR12560,PIRSF_domain:PIRSF005225,Pfam_domain:PF00046,Gene3D:1.10.10.60,Superfamily_domains:SSF46689																	MODERATE		SNV	5			1										PASS		rs1480342063	.												A	3	1	63	150968154	150968154	C	A	1	0	0	0	0	1	0	0	0	2996	680	24	2		2	CERS2	1	150968154	Missense_Mutation	SNP	C	C3N-00704_TP	1962945	150968154	97988268	46	20543											
FLG	0	.	GRCh38	chr1	152307387	152307387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgggaggcatcagacCttccctgggatgtggtgtgg	6	9	16	10	0	1	1	1	0	0	1	2	3	2	3	3	5	0	1	3	5	0	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.7499G>T	p.Arg2500Met	p.R2500M	ENST00000368799	3/3	525	456	69	571	570	1	strelka-varscan-mutect	FLG,missense_variant,p.Arg2500Met,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	A	ENST00000368799	Transcript	missense_variant	7535/12747	7499/12186	2500/4061	R/M	aGg/aTg		1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	deleterious(0.01)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	152307387	152307387	C	A	1	0	0	0	0	1	0	0	0	5784	681	24	2		2	FLG	1	152307387	Missense_Mutation	SNP	C	C3N-00704_TP	1339233	152307387	96649035	47	20544											
KPRP	0	.	GRCh38	chr1	152760359	152760359	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccagcagatgccttccTcctcctcggcggctgcagct	6	8	10	17	2	0	1	0	0	0	1	4	1	3	1	5	2	5	5	5	2	0	1	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.771T>A	p.=	p.P257P	ENST00000606109	1/1	282	236	46	288	288	0	strelka-varscan-mutect	KPRP,synonymous_variant,p.=,ENST00000606109,NM_001025231.1;	A	ENST00000606109	Transcript	synonymous_variant	799/2492	771/1740	257/579	P	ccT/ccA		1		1	KPRP	HGNC	HGNC:31823	protein_coding	YES	CCDS30862.1	ENSP00000475216	Q5T749		UPI0000199942	NM_001025231.1			1/1		Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		.	.												A	2	1	63	152760359	152760359	T	A	1	0	0	0	0	0	0	0	1	8316	1538	54	4		4	KPRP	1	152760359	Silent	SNP	T	C3N-00704_TP	452972	152760359	96196063	48	20545											
IVL	0	.	GRCh38	chr1	152910595	152910595	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggacagctgaagcacctGgagcaccaggaggggcagct	11	3	17	10	0	0	1	0	1	0	0	0	5	0	4	2	5	4	5	2	5	1	0	rs753903760		C3N-00704_TP	C3N-00704_NB	G	G																c.798G>T	p.=	p.L266L	ENST00000368764	2/2	163	111	52	203	203	0	strelka-varscan-mutect	IVL,synonymous_variant,p.=,ENST00000368764,NM_005547.2;	T	ENST00000368764	Transcript	synonymous_variant	862/2153	798/1758	266/585	L	ctG/ctT	rs753903760	1		1	IVL	HGNC	HGNC:6187	protein_coding	YES	CCDS1030.1	ENSP00000357753	P07476		UPI000013E24A	NM_005547.2			2/2		Pfam_domain:PF00904																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	63	152910595	152910595	G	T	1	0	0	0	0	0	0	0	1	7835	1335	47	2		2	IVL	1	152910595	Silent	SNP	G	C3N-00704_TP	150236	152910595	96045827	49	20546											
PGLYRP3	0	.	GRCh38	chr1	153303917	153303917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcttctttcagaagaagtgGctgaatatacctgggcgaca	11	11	10	9	1	3	3	1	1	2	2	3	4	3	3	1	2	1	1	1	2	5	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.469C>A	p.Pro157Thr	p.P157T	ENST00000290722	4/7	208	184	24	176	176	0	strelka-varscan-mutect	PGLYRP3,missense_variant,p.Pro157Thr,ENST00000290722,NM_052891.2;	T	ENST00000290722	Transcript	missense_variant	522/1173	469/1026	157/341	P/T	Cca/Aca		1		-1	PGLYRP3	HGNC	HGNC:30014	protein_coding	YES	CCDS1035.1	ENSP00000290722	Q96LB9		UPI000006F12B	NM_052891.2	deleterious(0)		4/7		hmmpanther:PTHR11022,hmmpanther:PTHR11022:SF12,Pfam_domain:PF01510,SMART_domains:SM00701,SMART_domains:SM00644,Superfamily_domains:SSF55846																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	153303917	153303917	G	T	1	0	0	0	0	1	0	0	0	11884	1203	42	2		2	PGLYRP3	1	153303917	Missense_Mutation	SNP	G	C3N-00704_TP	393322	153303917	95652505	50	20547											
GBA	0	.	GRCh38	chr1	155239657	155239657	+	Frame_Shift_Del	DEL	G	G	-																															taagtagcaaattttgggcaGggggtgacagggcaaggatg																								rs759174705		C3N-00704_TP	C3N-00704_NB	G	G																c.413delC	p.Pro138LeufsTer62	p.P138Lfs*62	ENST00000327247	5/12	564	377	187	532	532	0	sindel-varindel-pindel	GBA,frameshift_variant,p.Pro138LeufsTer62,ENST00000327247,NM_001005741.2,NM_001005742.2;GBA,frameshift_variant,p.Pro138LeufsTer62,ENST00000368373,NM_000157.3;GBA,frameshift_variant,p.Pro51LeufsTer62,ENST00000428024,NM_001171811.1;GBA,intron_variant,,ENST00000427500,NM_001171812.1;GBA,non_coding_transcript_exon_variant,,ENST00000493842,;GBA,non_coding_transcript_exon_variant,,ENST00000473570,;GBA,non_coding_transcript_exon_variant,,ENST00000467918,;GBA,intron_variant,,ENST00000484489,;GBA,intron_variant,,ENST00000497670,;GBA,upstream_gene_variant,,ENST00000478472,;GBA,upstream_gene_variant,,ENST00000491081,;GBA,upstream_gene_variant,,ENST00000460156,;GBA,upstream_gene_variant,,ENST00000464536,;GBA,downstream_gene_variant,,ENST00000470104,;	-	ENST00000327247	Transcript	frameshift_variant	646/2387	413/1611	138/536	P/X	cCt/ct	rs759174705,COSM252517,COSM252999	1		-1	GBA	HGNC	HGNC:4177	protein_coding	YES	CCDS1102.1	ENSP00000314508	P04062	A0A068F658	UPI0000073DCE	NM_001005741.2,NM_001005742.2			5/12		hmmpanther:PTHR11069:SF9,hmmpanther:PTHR11069,Pfam_domain:PF02055,Gene3D:3.20.20.80,Superfamily_domains:SSF51445,Superfamily_domains:SSF51011											0,1,1						HIGH	1	deletion	1		0,1,1	1										PASS		.	.												-	7	5	63	155239657	155239657	G	-	1	0	1	0	1	0	0	0	0	6138	1000	35	0		0	GBA	1	155239657	Frame_Shift_Del	DEL	G	C3N-00704_TP	1935740	155239657	93716765	51	20548											
YY1AP1	0	.	GRCh38	chr1	155676637	155676637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactggggtttaaccttctCtacctccttctgctgtttgg	5	16	8	12	0	2	0	0	0	2	0	4	0	3	0	3	3	3	3	3	3	2	6	rs763431851		C3N-00704_TP	C3N-00704_NB	C	C																c.649G>A	p.Glu217Lys	p.E217K	ENST00000368339	4/10	630	596	34	535	535	0	strelka-varscan-mutect	YY1AP1,missense_variant,p.Glu217Lys,ENST00000368339,NM_001198903.1;YY1AP1,missense_variant,p.Glu217Lys,ENST00000368340,NM_001198904.1;YY1AP1,missense_variant,p.Glu68Lys,ENST00000361831,NM_018253.3,NM_139121.2;YY1AP1,missense_variant,p.Glu68Lys,ENST00000407221,;YY1AP1,missense_variant,p.Glu68Lys,ENST00000359205,NM_001198899.1,NM_001198900.1;YY1AP1,missense_variant,p.Glu68Lys,ENST00000311573,;YY1AP1,missense_variant,p.Glu79Lys,ENST00000355499,NM_139119.2;YY1AP1,missense_variant,p.Glu79Lys,ENST00000404643,NM_001198905.1;YY1AP1,missense_variant,p.Glu145Lys,ENST00000295566,NM_001198906.1,NM_139118.2;YY1AP1,missense_variant,p.Glu79Lys,ENST00000368330,NM_001198901.1;YY1AP1,missense_variant,p.Glu79Lys,ENST00000347088,NM_001198902.1;YY1AP1,missense_variant,p.Glu217Lys,ENST00000405763,;YY1AP1,missense_variant,p.Glu68Lys,ENST00000443231,;YY1AP1,missense_variant,p.Glu79Lys,ENST00000454523,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000476093,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000493625,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000476027,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000466366,;YY1AP1,upstream_gene_variant,,ENST00000488784,;YY1AP1,upstream_gene_variant,,ENST00000477470,;YY1AP1,missense_variant,p.Glu79Lys,ENST00000361140,;YY1AP1,missense_variant,p.Glu79Lys,ENST00000354691,;YY1AP1,3_prime_UTR_variant,,ENST00000436865,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000496324,;	T	ENST00000368339	Transcript	missense_variant	841/3073	649/2667	217/888	E/K	Gag/Aag	rs763431851	1		-1	YY1AP1	HGNC	HGNC:30935	protein_coding	YES	CCDS55645.1	ENSP00000357323	Q9H869		UPI0001AE792F	NM_001198903.1	deleterious(0.01)		4/10		Low_complexity_(Seg):seg,hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF9																	MODERATE	1	SNV	2			1										PASS		rs763431851	.												T	3	4	63	155676637	155676637	C	T	1	0	0	0	0	1	0	0	0	18069	922	32	3		3	YY1AP1	1	155676637	Missense_Mutation	SNP	C	C3N-00704_TP	436980	155676637	93279785	52	20549											
NTRK1	0	.	GRCh38	chr1	156866914	156866914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccacgcccgcaggaatCtctccttcaacgctctggag	7	9	9	16	3	4	0	1	0	3	0	7	2	5	2	3	2	1	2	3	2	2	1			C3N-00704_TP	C3N-00704_NB	C	C																c.364C>A	p.Leu122Ile	p.L122I	ENST00000524377	4/17	604	406	198	594	594	0	strelka-varscan-mutect	NTRK1,missense_variant,p.Leu122Ile,ENST00000368196,NM_001012331.1;NTRK1,missense_variant,p.Leu92Ile,ENST00000392302,NM_001007792.1;NTRK1,missense_variant,p.Leu122Ile,ENST00000358660,;NTRK1,missense_variant,p.Leu122Ile,ENST00000524377,NM_002529.3;NTRK1,intron_variant,,ENST00000489021,;NTRK1,missense_variant,p.Leu92Ile,ENST00000497019,;NTRK1,non_coding_transcript_exon_variant,,ENST00000530298,;NTRK1,downstream_gene_variant,,ENST00000533630,;	A	ENST00000524377	Transcript	missense_variant	405/2432	364/2391	122/796	L/I	Ctc/Atc	COSM4023441,COSM4023442	1		1	NTRK1	HGNC	HGNC:8031	protein_coding	YES	CCDS1161.1	ENSP00000431418	P04629		UPI000013D5D3	NM_002529.3	deleterious(0.02)		4/17		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF370,Gene3D:3.80.10.10,Pfam_domain:PF13855,Superfamily_domains:SSF52058											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	63	156866914	156866914	C	A	1	0	0	0	0	1	0	0	0	10772	927	32	2		2	NTRK1	1	156866914	Missense_Mutation	SNP	C	C3N-00704_TP	1190277	156866914	92089508	53	20550											
CD1E	0	.	GRCh38	chr1	158355948	158355948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtggatgcggggtgagcaGgagcagcggggcactcagcg	8	5	20	8	3	1	1	1	1	0	0	1	3	1	3	0	6	5	3	0	6	0	0	rs150649106		C3N-00704_TP	C3N-00704_NB	G	G																c.747G>T	p.Gln249His	p.Q249H	ENST00000368167	4/6	203	171	32	207	207	0	strelka-varscan-mutect	CD1E,missense_variant,p.Gln150His,ENST00000444681,NM_001185114.1;CD1E,missense_variant,p.Gln249His,ENST00000368160,NM_001042583.2;CD1E,missense_variant,p.Gln249His,ENST00000368161,NM_001042584.2;CD1E,missense_variant,p.Gln249His,ENST00000368167,NM_030893.3;CD1E,missense_variant,p.Gln60His,ENST00000368166,NM_001042586.2;CD1E,missense_variant,p.Gln159His,ENST00000368165,NM_001185107.1;CD1E,missense_variant,p.Gln19His,ENST00000368162,;CD1E,missense_variant,p.Gln60His,ENST00000368164,NM_001042587.2;CD1E,missense_variant,p.Gln159His,ENST00000368156,NM_001185115.1;CD1E,missense_variant,p.Gln60His,ENST00000452291,NM_001185112.1;CD1E,splice_region_variant,,ENST00000368163,NM_001042585.2;CD1E,splice_region_variant,,ENST00000368155,NM_001185108.1;CD1E,splice_region_variant,,ENST00000368154,NM_001185113.1;CD1E,splice_region_variant,,ENST00000368157,NM_001185110.1;CD1E,downstream_gene_variant,,ENST00000464822,;	T	ENST00000368167	Transcript	missense_variant	986/1458	747/1167	249/388	Q/H	caG/caT	rs150649106,COSM107852	1		1	CD1E	HGNC	HGNC:1638	protein_coding	YES	CCDS41417.1	ENSP00000357149	P15812		UPI000046F8C2	NM_030893.3	deleterious(0.03)		4/6		PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF146,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726											1,1						MODERATE	1	SNV	1		0,1	1										PASS		rs150649106	.												T	3	4	63	158355948	158355948	G	T	1	0	0	0	0	1	0	0	0	2681	991	35	2		2	CD1E	1	158355948	Missense_Mutation	SNP	G	C3N-00704_TP	1489034	158355948	90600474	54	20551											
OR10K1	0	.	GRCh38	chr1	158466109	158466109	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctgtgacatctcccCtgtccttaaactggcatctc	6	15	5	15	0	4	1	0	1	4	0	7	1	5	1	3	1	1	1	3	1	2	3	rs527774086		C3N-00704_TP	C3N-00704_NB	C	C																c.548C>G	p.Pro183Arg	p.P183R	ENST00000289451	1/1	162	143	19	175	175	0	strelka-varscan-mutect	OR10K1,missense_variant,p.Pro183Arg,ENST00000289451,NM_001004473.1;	G	ENST00000289451	Transcript	missense_variant	548/942	548/942	183/313	P/R	cCt/cGt	rs527774086,COSM4499710	1		1	OR10K1	HGNC	HGNC:14693	protein_coding	YES	CCDS30897.1	ENSP00000289451	Q8NGX5	A0A126GV64	UPI0000041B19	NM_001004473.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF325,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245											0,1						MODERATE	1	SNV			0,1	1										PASS		rs527774086	.												G	3	3	63	158466109	158466109	C	G	1	0	0	0	0	1	0	0	0	10990	681	24	4		4	OR10K1	1	158466109	Missense_Mutation	SNP	C	C3N-00704_TP	110161	158466109	90490313	55	20552											
OR6P1	0	.	GRCh38	chr1	158563484	158563484	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaagacaataagtgcattctCcaacaatgtcagaaggtaaa	18	8	8	7	0	2	2	1	0	1	2	3	3	2	2	1	1	2	2	1	1	8	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.121G>C	p.Glu41Gln	p.E41Q	ENST00000334632	1/1	223	194	29	220	220	0	strelka-varscan-mutect	OR6P1,missense_variant,p.Glu41Gln,ENST00000334632,NM_001160325.1;	G	ENST00000334632	Transcript	missense_variant	121/954	121/954	41/317	E/Q	Gag/Cag		1		-1	OR6P1	HGNC	HGNC:15036	protein_coding	YES	CCDS53391.1	ENSP00000334721	Q8NGX9	A0A126GV72	UPI000004B1FF	NM_001160325.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	63	158563484	158563484	C	G	1	0	0	0	0	1	0	0	0	11277	864	30	4		4	OR6P1	1	158563484	Missense_Mutation	SNP	C	C3N-00704_TP	97375	158563484	90392938	56	20553											
OR10Z1	0	.	GRCh38	chr1	158607035	158607035	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgagtgagctgaggatCtttatcctcagtcttttggt	6	14	12	9	1	3	2	1	2	2	0	4	4	4	3	2	3	1	1	2	3	1	4	rs780817204		C3N-00704_TP	C3N-00704_NB	C	C																c.597C>A	p.=	p.I199I	ENST00000361284	1/1	349	295	54	337	337	0	strelka-varscan-mutect	OR10Z1,synonymous_variant,p.=,ENST00000361284,NM_001004478.1;SPTA1,downstream_gene_variant,,ENST00000368147,NM_003126.2;SPTA1,downstream_gene_variant,,ENST00000485680,;	A	ENST00000361284	Transcript	synonymous_variant	597/942	597/942	199/313	I	atC/atA	rs780817204,COSM3476160	1		1	OR10Z1	HGNC	HGNC:14996	protein_coding	YES	CCDS30901.1	ENSP00000354707	Q8NGY1	A0A126GV63	UPI000004CA23	NM_001004478.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321											0,1						LOW		SNV			0,1	1										PASS		rs780817204	.												A	2	1	63	158607035	158607035	C	A	1	0	0	0	0	0	0	0	1	10999	903	32	2		2	OR10Z1	1	158607035	Silent	SNP	C	C3N-00704_TP	43551	158607035	90349387	57	20554											
ITLN1	0	.	GRCh38	chr1	160876690	160876690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atagaatagaagcacagctgCctcagttatctcacggctgc	12	9	9	11	1	2	2	2	0	1	2	3	2	2	2	1	1	4	4	1	1	5	3	rs761780040		C3N-00704_TP	C3N-00704_NB	C	C																c.916G>T	p.Ala306Ser	p.A306S	ENST00000326245	8/8	212	133	79	181	181	0	strelka-varscan-mutect	ITLN1,missense_variant,p.Ala306Ser,ENST00000326245,NM_017625.2;ITLN1,downstream_gene_variant,,ENST00000487531,;ITLN1,downstream_gene_variant,,ENST00000464077,;	A	ENST00000326245	Transcript	missense_variant	1032/1183	916/942	306/313	A/S	Gca/Tca	rs761780040	1		-1	ITLN1	HGNC	HGNC:18259	protein_coding	YES	CCDS1211.1	ENSP00000323587	Q8WWA0		UPI0000032AA3	NM_017625.2	tolerated(0.54)		8/8		hmmpanther:PTHR16146,hmmpanther:PTHR16146:SF38																	MODERATE	1	SNV	1			1										PASS		rs761780040	.												A	3	1	63	160876690	160876690	C	A	1	0	0	0	0	1	0	0	0	7816	739	26	2		2	ITLN1	1	160876690	Missense_Mutation	SNP	C	C3N-00704_TP	2269655	160876690	88079732	58	20555											
ADAMTS4	0	.	GRCh38	chr1	161192108	161192108	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgctgcaaccagaacCgtcccctccgcacaccatgc	8	7	7	19	2	0	1	0	0	0	1	2	1	2	1	6	0	6	4	6	0	2	1	rs3134667		C3N-00704_TP	C3N-00704_NB	C	C																c.2044G>T	p.Gly682Cys	p.G682C	ENST00000367996	8/9	226	143	83	212	212	0	strelka-varscan-mutect	ADAMTS4,missense_variant,p.Gly682Cys,ENST00000367996,NM_005099.4;ADAMTS4,downstream_gene_variant,,ENST00000367995,;NDUFS2,upstream_gene_variant,,ENST00000479948,;ADAMTS4,downstream_gene_variant,,ENST00000478394,;	A	ENST00000367996	Transcript	missense_variant	2473/9773	2044/2514	682/837	G/C	Ggt/Tgt	rs3134667	1		-1	ADAMTS4	HGNC	HGNC:220	protein_coding	YES	CCDS1223.1	ENSP00000356975	O75173		UPI000014194C	NM_005099.4	deleterious(0.01)		8/9		hmmpanther:PTHR13723:SF38,hmmpanther:PTHR13723,Prints_domain:PR01857																	MODERATE	1	SNV	1			1										PASS		rs3134667	.												A	3	1	63	161192108	161192108	C	A	1	0	0	0	0	1	0	0	0	312	652	23	1		1	ADAMTS4	1	161192108	Missense_Mutation	SNP	C	C3N-00704_TP	315418	161192108	87764314	59	20556											
ADAMTS4	0	.	GRCh38	chr1	161193723	161193723	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgccaccattccgggggAcaggcctcgtgcagtctcgg	6	8	13	14	3	1	0	0	0	1	0	4	1	2	1	4	4	2	1	4	4	0	2	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.1652T>C	p.Val551Ala	p.V551A	ENST00000367996	6/9	178	136	42	169	169	0	strelka-varscan-mutect	ADAMTS4,missense_variant,p.Val551Ala,ENST00000367996,NM_005099.4;ADAMTS4,downstream_gene_variant,,ENST00000367995,;NDUFS2,upstream_gene_variant,,ENST00000496133,;NDUFS2,upstream_gene_variant,,ENST00000479948,;ADAMTS4,downstream_gene_variant,,ENST00000478394,;	G	ENST00000367996	Transcript	missense_variant	2081/9773	1652/2514	551/837	V/A	gTc/gCc		1		-1	ADAMTS4	HGNC	HGNC:220	protein_coding	YES	CCDS1223.1	ENSP00000356975	O75173		UPI000014194C	NM_005099.4	tolerated(0.21)		6/9		PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF38,hmmpanther:PTHR13723,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	63	161193723	161193723	A	G	1	0	0	0	0	1	0	0	0	312	275	10	5		5	ADAMTS4	1	161193723	Missense_Mutation	SNP	A	C3N-00704_TP	1615	161193723	87762699	60	20557											
FCRLA	0	.	GRCh38	chr1	161712163	161712163	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatactggtgtgaggcagcCactgaggacaaccaagtttg	11	9	12	9	0	1	2	1	2	0	0	1	3	1	3	2	3	3	2	2	3	3	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.798C>A	p.=	p.A266A	ENST00000367959	5/6	172	114	58	152	152	0	strelka-varscan-mutect	FCRLA,synonymous_variant,p.=,ENST00000367959,NM_001184866.1;FCRLA,synonymous_variant,p.=,ENST00000236938,NM_032738.3;FCRLA,synonymous_variant,p.=,ENST00000546024,NM_001184867.1;FCRLA,synonymous_variant,p.=,ENST00000367953,;FCRLA,synonymous_variant,p.=,ENST00000540521,NM_001184870.1;FCRLA,synonymous_variant,p.=,ENST00000367957,NM_001184872.1;FCRLA,synonymous_variant,p.=,ENST00000309691,;FCRLA,synonymous_variant,p.=,ENST00000294796,;FCRLA,intron_variant,,ENST00000367949,NM_001184873.1;FCRLA,intron_variant,,ENST00000350710,NM_001184871.1;FCRLA,intron_variant,,ENST00000349527,;FCRLA,intron_variant,,ENST00000367950,;FCRLA,non_coding_transcript_exon_variant,,ENST00000470841,;FCRLA,downstream_gene_variant,,ENST00000465403,;	A	ENST00000367959	Transcript	synonymous_variant	1040/2362	798/1149	266/382	A	gcC/gcA		1		1	FCRLA	HGNC	HGNC:18504	protein_coding	YES	CCDS53415.1	ENSP00000356936	Q7L513		UPI0001D3957E	NM_001184866.1			5/6		PROSITE_profiles:PS50835,hmmpanther:PTHR11481,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	63	161712163	161712163	C	A	1	0	0	0	0	0	0	0	1	5662	581	21	2		2	FCRLA	1	161712163	Silent	SNP	C	C3N-00704_TP	518440	161712163	87244259	61	20558											
FASLG	0	.	GRCh38	chr1	172666015	172666015	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcggcttatataagctctAagagaagcactttgggattc	11	14	9	7	1	1	1	0	0	1	1	3	3	1	2	0	2	2	3	0	2	5	7	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.845A>G	p.=	p.*282*	ENST00000367721	4/4	159	122	37	164	164	0	strelka-varscan-mutect	FASLG,stop_retained_variant,p.=,ENST00000367721,NM_000639.2;FASLG,3_prime_UTR_variant,,ENST00000340030,NM_001302746.1;	G	ENST00000367721	Transcript	stop_retained_variant	1029/1888	845/846	282/281	*	tAa/tGa		1		1	FASLG	HGNC	HGNC:11936	protein_coding	YES	CCDS1304.1	ENSP00000356694	P48023	Q53ZZ1	UPI000000D91A	NM_000639.2			4/4																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	63	172666015	172666015	A	G	1	0	0	0	0	0	0	0	1	5542	369	13	5		5	FASLG	1	172666015	Silent	SNP	A	C3N-00704_TP	10953852	172666015	76290407	62	20559											
ANKRD45	0	.	GRCh38	chr1	173659285	173659285	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaccctctacatcccctGtgagagcaggttgtaaaagg	12	8	10	11	0	1	1	0	1	1	1	2	2	2	1	3	2	3	4	3	2	4	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.134C>G	p.Thr45Arg	p.T45R	ENST00000333279	2/6	190	167	23	168	168	0	strelka-varscan-mutect	ANKRD45,missense_variant,p.Thr45Arg,ENST00000333279,NM_198493.2;ANKRD45,non_coding_transcript_exon_variant,,ENST00000367712,;	C	ENST00000333279	Transcript	missense_variant	195/1446	134/801	45/266	T/R	aCa/aGa		1		-1	ANKRD45	HGNC	HGNC:24786	protein_coding	YES	CCDS1309.1	ENSP00000331268	Q5TZF3		UPI000019851A	NM_198493.2	tolerated(0.13)		2/6		hmmpanther:PTHR24180,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	63	173659285	173659285	G	C	1	0	0	0	0	1	0	0	0	778	1377	48	4		4	ANKRD45	1	173659285	Missense_Mutation	SNP	G	C3N-00704_TP	993270	173659285	75297137	63	20560											
FAM163A	0	.	GRCh38	chr1	179813110	179813110	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgggcggatgacagcgggaAcggttgtgatcactggcgga	8	6	18	9	5	1	2	1	2	0	0	1	5	1	5	1	6	2	1	1	6	1	1	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.13A>T	p.Thr5Ser	p.T5S	ENST00000341785	4/5	353	242	111	292	291	1	strelka-varscan-mutect	FAM163A,missense_variant,p.Thr5Ser,ENST00000341785,NM_173509.2;RP11-12M5.3,downstream_gene_variant,,ENST00000415218,;RP11-12M5.3,downstream_gene_variant,,ENST00000453051,;	T	ENST00000341785	Transcript	missense_variant	409/2909	13/504	5/167	T/S	Acg/Tcg		1		1	FAM163A	HGNC	HGNC:28274	protein_coding	YES	CCDS1333.1	ENSP00000354891	Q96GL9		UPI000006ED82	NM_173509.2	deleterious(0.01)		4/5		Pfam_domain:PF15069,hmmpanther:PTHR31914,hmmpanther:PTHR31914:SF2,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1276100599	.												T	3	4	63	179813110	179813110	A	T	1	0	0	0	0	1	0	0	0	5325	43	2	4		4	FAM163A	1	179813110	Missense_Mutation	SNP	A	C3N-00704_TP	6153825	179813110	69143312	64	20561											
CAMSAP2	0	.	GRCh38	chr1	200832239	200832239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaacattgcttaagcaactgCcttgcattccattggtagaa	13	12	7	9	0	0	1	0	0	0	1	1	1	1	1	2	1	6	4	2	1	5	6	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.718C>T	p.Pro240Ser	p.P240S	ENST00000236925	6/18	127	94	33	129	129	0	strelka-varscan	CAMSAP2,missense_variant,p.Pro229Ser,ENST00000358823,NM_203459.2;CAMSAP2,missense_variant,p.Pro240Ser,ENST00000236925,NM_001297707.1;CAMSAP2,missense_variant,p.Pro229Ser,ENST00000413307,NM_001297708.1;CAMSAP2,non_coding_transcript_exon_variant,,ENST00000532732,;CAMSAP2,upstream_gene_variant,,ENST00000447701,;	T	ENST00000236925	Transcript	missense_variant	767/7161	718/4470	240/1489	P/S	Cct/Tct		1		1	CAMSAP2	HGNC	HGNC:29188	protein_coding	YES	CCDS72998.1	ENSP00000236925	Q08AD1		UPI0000160246	NM_001297707.1	deleterious(0)		6/18		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF1,Gene3D:1.10.418.10,Pfam_domain:PF11971,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	200832239	200832239	C	T	1	0	0	0	0	1	0	0	0	2304	739	26	3		3	CAMSAP2	1	200832239	Missense_Mutation	SNP	C	C3N-00704_TP	21019129	200832239	48124183	65	20562											
IGFN1	0	.	GRCh38	chr1	201207702	201207702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtaaaaggacccagaGgtgagacaggctataaggat	16	5	13	7	0	0	3	0	1	0	3	0	6	0	5	2	4	0	2	2	4	4	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2809G>T	p.Gly937Cys	p.G937C	ENST00000335211	12/24	227	213	14	206	206	0	strelka-varscan	IGFN1,missense_variant,p.Gly937Cys,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,upstream_gene_variant,,ENST00000412892,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,downstream_gene_variant,,ENST00000444705,;	T	ENST00000335211	Transcript	missense_variant	2939/11810	2809/11127	937/3708	G/C	Ggt/Tgt		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1	deleterious(0)		12/24		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF630																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	201207702	201207702	G	T	1	0	0	0	0	1	0	0	0	7497	1000	35	2		2	IGFN1	1	201207702	Missense_Mutation	SNP	G	C3N-00704_TP	375463	201207702	47748720	66	20563											
PLXNA2	0	.	GRCh38	chr1	208027244	208027244	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgcgaggctcctcctctCagctctcaatggacatggca	9	9	10	13	1	2	0	2	0	2	0	6	3	4	1	2	3	2	3	2	3	2	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.5684G>A	p.=	p.*1895*	ENST00000367033	32/32	189	179	10	194	194	0	strelka-varscan	PLXNA2,stop_retained_variant,p.=,ENST00000367033,NM_025179.3;PLXNA2,non_coding_transcript_exon_variant,,ENST00000483048,;PLXNA2,downstream_gene_variant,,ENST00000480053,;	T	ENST00000367033	Transcript	stop_retained_variant	6442/11444	5684/5685	1895/1894	*	tGa/tAa		1		-1	PLXNA2	HGNC	HGNC:9100	protein_coding	YES	CCDS31013.1	ENSP00000356000	O75051		UPI000022B239	NM_025179.3			32/32																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	63	208027244	208027244	C	T	1	0	0	0	0	0	0	0	1	12226	837	29	3		3	PLXNA2	1	208027244	Silent	SNP	C	C3N-00704_TP	6819542	208027244	40929178	67	20564											
USH2A	0	.	GRCh38	chr1	215628823	215628824	+	Frame_Shift_Ins	INS	-	-	T																															accaactcaccagtccactgINSttgtggcccatgatggcttc																								novel		C3N-00704_TP	C3N-00704_NB	-	-																c.15509dupA	p.Asn5170LysfsTer8	p.N5170Kfs*8	ENST00000307340	71/72	446	392	54	485	485	0	sindel-varindel-pindel	USH2A,frameshift_variant,p.Asn5170LysfsTer8,ENST00000307340,NM_206933.2;SNORD116,downstream_gene_variant,,ENST00000365628,;	T	ENST00000307340	Transcript	frameshift_variant	15896-15897/18883	15509-15510/15609	5170/5202	N/KX	aac/aaAc		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			71/72																			HIGH	1	insertion	1			1										PASS		.	.												T	7	5	63	215628823	215628823	-	T	1	0	1	1	0	0	0	0	0	17570	1368	48	0		0	USH2A	1	215628823	Frame_Shift_Ins	INS	-	C3N-00704_TP	7601579	215628823	33327599	68	20565											
USH2A	0	.	GRCh38	chr1	216190357	216190357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagttcttgggatttagcaGtgtgcaacagcttcaaggca	11	12	11	7	0	2	0	1	0	1	0	2	1	2	1	0	2	4	5	0	2	4	6	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.4262C>T	p.Thr1421Ile	p.T1421I	ENST00000307340	20/72	301	264	37	344	344	0	strelka-varscan-mutect	USH2A,missense_variant,p.Thr1421Ile,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Thr1421Ile,ENST00000366942,NM_007123.5;RP5-1099E6.3,upstream_gene_variant,,ENST00000420867,;	A	ENST00000307340	Transcript	missense_variant	4649/18883	4262/15609	1421/5202	T/I	aCt/aTt		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(0.57)		20/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	216190357	216190357	G	A	1	0	0	0	0	1	0	0	0	17570	1029	36	3		3	USH2A	1	216190357	Missense_Mutation	SNP	G	C3N-00704_TP	561534	216190357	32766065	69	20566											
USH2A	0	.	GRCh38	chr1	216418519	216418519	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttattttactcacctgcaCactaagatgaatccatttct	11	17	3	10	0	2	2	1	1	1	1	3	2	3	2	2	0	2	1	2	0	4	6	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.646G>C	p.Val216Leu	p.V216L	ENST00000307340	3/72	162	143	19	279	279	0	strelka-varscan-mutect	USH2A,missense_variant,p.Val216Leu,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Val216Leu,ENST00000366942,NM_007123.5;	G	ENST00000307340	Transcript	missense_variant	1033/18883	646/15609	216/5202	V/L	Gtg/Ctg		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(0.33)		3/72		Gene3D:2.60.120.200,Pfam_domain:PF13385,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00560,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	63	216418519	216418519	C	G	1	0	0	0	0	1	0	0	0	17570	492	17	4		4	USH2A	1	216418519	Missense_Mutation	SNP	C	C3N-00704_TP	228162	216418519	32537903	70	20567											
MIA3	0	.	GRCh38	chr1	222653313	222653313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggtggaaatgattcagAtgaattagcaaatggagaag	18	9	12	2	0	1	4	1	2	0	2	1	6	1	5	0	3	1	1	0	3	7	3	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.4295A>G	p.Asp1432Gly	p.D1432G	ENST00000344922	15/28	68	56	12	89	89	0	strelka-varscan-mutect	MIA3,missense_variant,p.Asp1432Gly,ENST00000344922,NM_001324064.1,NM_198551.3;MIA3,missense_variant,p.Asp956Gly,ENST00000354906,;MIA3,missense_variant,p.Asp310Gly,ENST00000340535,NM_001300867.1;MIA3,intron_variant,,ENST00000344507,;MIA3,downstream_gene_variant,,ENST00000495210,;MIA3,downstream_gene_variant,,ENST00000467190,;	G	ENST00000344922	Transcript	missense_variant	4320/8142	4295/5724	1432/1907	D/G	gAt/gGt		1		1	MIA3	HGNC	HGNC:24008	protein_coding	YES	CCDS41470.1	ENSP00000340900	Q5JRA6		UPI00001D75B3	NM_001324064.1,NM_198551.3	tolerated(0.08)		15/28		hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF37																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	63	222653313	222653313	A	G	1	0	0	0	0	1	0	0	0	9522	333	12	5		5	MIA3	1	222653313	Missense_Mutation	SNP	A	C3N-00704_TP	6234794	222653313	26303109	71	20568											
SDE2	0	.	GRCh38	chr1	225999300	225999300	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaatccacaccagcgccgCggcctccgccatgtcaccga	8	4	10	19	6	1	0	1	0	0	0	3	2	3	0	7	1	1	0	7	1	1	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.13G>C	p.Ala5Pro	p.A5P	ENST00000272091	1/7	186	153	33	150	150	0	strelka-varscan-mutect	SDE2,missense_variant,p.Ala5Pro,ENST00000272091,NM_152608.3;	G	ENST00000272091	Transcript	missense_variant	32/3975	13/1356	5/451	A/P	Gcg/Ccg		1		-1	SDE2	HGNC	HGNC:26643	protein_coding	YES	CCDS41473.1	ENSP00000272091	Q6IQ49		UPI0000204007	NM_152608.3	deleterious_low_confidence(0.02)		1/7		hmmpanther:PTHR12786:SF1,hmmpanther:PTHR12786																	MODERATE	1	SNV	1			1										PASS		rs1291074316	.												G	3	3	63	225999300	225999300	C	G	1	0	0	0	0	1	0	0	0	14231	768	27	4		4	SDE2	1	225999300	Missense_Mutation	SNP	C	C3N-00704_TP	3345987	225999300	22957122	72	20569											
CDC42BPA	0	.	GRCh38	chr1	227147395	227147395	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccgtatgtctccaccagCgattctgcataaaatggtgt	9	14	8	10	2	2	0	0	0	2	0	4	1	3	0	3	1	2	2	3	1	3	4			C3N-00704_TP	C3N-00704_NB	C	C																c.858G>T	p.=	p.S286S	ENST00000366769	7/36	180	130	50	163	163	0	varscan-mutect	CDC42BPA,synonymous_variant,p.=,ENST00000366769,NM_003607.3;CDC42BPA,synonymous_variant,p.=,ENST00000366764,;CDC42BPA,synonymous_variant,p.=,ENST00000334218,;CDC42BPA,synonymous_variant,p.=,ENST00000366767,NM_014826.4;CDC42BPA,5_prime_UTR_variant,,ENST00000366766,;	A	ENST00000366769	Transcript	synonymous_variant	2150/10855	858/5160	286/1719	S	tcG/tcT	COSM1339398,COSM1339399,COSM1339400,COSM4028788,COSM4028789	1		-1	CDC42BPA	HGNC	HGNC:1737	protein_coding	YES	CCDS1558.1	ENSP00000355731	Q5VT25		UPI000019097D	NM_003607.3			7/36		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF31,SMART_domains:SM00220,Superfamily_domains:SSF56112											1,1,1,1,1						LOW	1	SNV	1		1,1,1,1,1	1										PASS		rs1267392725	.												A	2	1	63	227147395	227147395	C	A	1	0	0	0	0	0	0	0	1	2775	755	27	1		1	CDC42BPA	1	227147395	Silent	SNP	C	C3N-00704_TP	1148095	227147395	21809027	73	20570											
OBSCN	0	.	GRCh38	chr1	228279271	228279271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctccatcccctcagtgcGgccacctaagtggctcctgg	6	8	10	17	1	1	0	1	0	0	0	4	1	4	0	7	3	1	1	7	3	1	1	rs761007386		C3N-00704_TP	C3N-00704_NB	G	G																c.8510G>T	p.Arg2837Leu	p.R2837L	ENST00000570156	32/116	428	315	113	476	475	1	strelka-varscan-mutect	OBSCN,missense_variant,p.Arg2837Leu,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Arg2837Leu,ENST00000366707,;OBSCN,missense_variant,p.Arg2408Leu,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Arg2408Leu,ENST00000636875,;OBSCN,missense_variant,p.Arg2408Leu,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Arg256Leu,ENST00000366706,;OBSCN,upstream_gene_variant,,ENST00000483539,;RP5-1139B12.2,upstream_gene_variant,,ENST00000602517,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602529,;RP5-1139B12.3,upstream_gene_variant,,ENST00000602947,;OBSCN,upstream_gene_variant,,ENST00000366704,;	T	ENST00000570156	Transcript	missense_variant	8584/26925	8510/26772	2837/8923	R/L	cGg/cTg	rs761007386	1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	tolerated(0.08)		32/116		Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs761007386	.												T	3	4	63	228279271	228279271	G	T	1	0	0	0	0	1	0	0	0	10889	1116	39	1		1	OBSCN	1	228279271	Missense_Mutation	SNP	G	C3N-00704_TP	1131876	228279271	20677151	74	20571											
OR2AJ1	0	.	GRCh38	chr1	247933966	247933966	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattttctgctcagccatctCtccttaatggatatcttgca	8	17	5	11	0	4	0	1	0	3	0	6	1	5	1	2	1	3	2	2	1	3	6	rs535863153		C3N-00704_TP	C3N-00704_NB	C	C																c.198C>T	p.=	p.L66L	ENST00000318244	1/1	190	160	30	222	222	0	strelka-varscan	OR2AJ1,synonymous_variant,p.=,ENST00000318244,;CLK3P2,downstream_gene_variant,,ENST00000427566,;	T	ENST00000318244	Transcript	synonymous_variant	198/987	198/987	66/328	L	ctC/ctT	rs535863153	1		1	OR2AJ1	HGNC	HGNC:15001	protein_coding	YES		ENSP00000325078	Q8NGZ0		UPI0000061E5C				1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF214,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												T	2	4	63	247933966	247933966	C	T	1	0	0	0	0	0	0	0	1	11063	900	32	3		3	OR2AJ1	1	247933966	Silent	SNP	C	C3N-00704_TP	19654695	247933966	1022456	75	20572											
OR2T3	0	.	GRCh38	chr1	248473662	248473662	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccccgtcaggctgtgggatCcagatgttcttctacctgac	6	12	10	13	1	3	2	1	1	2	1	5	3	5	3	4	2	1	2	4	2	1	3	rs762426058		C3N-00704_TP	C3N-00704_NB	C	C																c.312C>A	p.=	p.I104I	ENST00000359594	1/1	312	267	45	385	385	0	strelka-varscan	OR2T3,synonymous_variant,p.=,ENST00000359594,NM_001005495.1;	A	ENST00000359594	Transcript	synonymous_variant	312/957	312/957	104/318	I	atC/atA	rs762426058	1		1	OR2T3	HGNC	HGNC:14727	protein_coding	YES	CCDS31117.1	ENSP00000352604	Q8NH03	A0A126GVW5	UPI00001D7CA5	NM_001005495.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF4,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00245																	LOW	1	SNV				1										PASS		.	.												A	2	1	63	248473662	248473662	C	A	1	0	0	0	0	0	0	0	1	11100	845	30	2		2	OR2T3	1	248473662	Silent	SNP	C	C3N-00704_TP	539696	248473662	482760	76	20573											
TRAPPC12	0	.	GRCh38	chr2	3388608	3388608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggccacccagcagcgcGgcgccgtgttcgtggacaag	6	5	15	15	6	0	0	0	0	0	0	1	1	0	1	4	3	2	2	4	3	1	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.985G>T	p.Gly329Cys	p.G329C	ENST00000324266	2/12	156	137	19	172	172	0	strelka-varscan-mutect	TRAPPC12,missense_variant,p.Gly329Cys,ENST00000324266,NM_016030.5;TRAPPC12,missense_variant,p.Gly329Cys,ENST00000382110,NM_001321102.1;TRAPPC12,upstream_gene_variant,,ENST00000441983,;TRAPPC12,upstream_gene_variant,,ENST00000457845,;TRAPPC12,missense_variant,p.Gly162Cys,ENST00000411973,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000482645,;	T	ENST00000324266	Transcript	missense_variant	1180/2508	985/2208	329/735	G/C	Ggc/Tgc		1		1	TRAPPC12	HGNC	HGNC:24284	protein_coding	YES	CCDS1652.1	ENSP00000324318	Q8WVT3		UPI000014132D	NM_016030.5	deleterious(0)		2/12		hmmpanther:PTHR21581,hmmpanther:PTHR21581:SF6																	MODERATE	1	SNV	1			1										PASS		rs1211759477	.												T	3	4	63	3388608	3388608	G	T	1	0	0	0	0	1	0	0	0	16942	1116	39	1		1	TRAPPC12	2	3388608	Missense_Mutation	SNP	G	C3N-00704_TP		3388608	238804921	77	20574											
DDX1	0	.	GRCh38	chr2	15607213	15607213	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacaaagtttctccccaatGctccgaaagctctcattgtt	12	12	5	12	1	2	0	1	0	2	0	5	1	3	0	3	0	3	4	3	0	4	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.856G>C	p.Ala286Pro	p.A286P	ENST00000381341	14/27	169	147	22	208	208	0	strelka-varscan-mutect	DDX1,missense_variant,p.Ala286Pro,ENST00000381341,;DDX1,missense_variant,p.Ala286Pro,ENST00000233084,NM_004939.2;DDX1,missense_variant,p.Ala205Pro,ENST00000617198,;DDX1,missense_variant,p.Ala205Pro,ENST00000621973,;	C	ENST00000381341	Transcript	missense_variant	1245/2817	856/2223	286/740	A/P	Gct/Cct		1		1	DDX1	HGNC	HGNC:2734	protein_coding	YES	CCDS1686.1	ENSP00000370745	Q92499	A3RJH1	UPI00001290D1		deleterious(0.01)		14/27		PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF307,hmmpanther:PTHR24031,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	63	15607213	15607213	G	C	1	0	0	0	0	1	0	0	0	4145	1319	46	4		4	DDX1	2	15607213	Missense_Mutation	SNP	G	C3N-00704_TP	12218605	15607213	226586316	78	20575											
TDRD15	0	.	GRCh38	chr2	21140177	21140177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgacttgtatcatctatGccttagttattatacatcca	11	18	4	8	0	2	1	1	1	1	0	3	1	3	1	2	0	2	2	2	0	7	9	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2710G>T	p.Ala904Ser	p.A904S	ENST00000405799	4/4	49	42	7	169	169	0	strelka-varscan-mutect	TDRD15,missense_variant,p.Ala904Ser,ENST00000405799,;TDRD15,missense_variant,p.Ala904Ser,ENST00000622654,;	T	ENST00000405799	Transcript	missense_variant	3040/6135	2710/5805	904/1934	A/S	Gcc/Tcc		1		1	TDRD15	HGNC	HGNC:45037	protein_coding	YES	CCDS77385.1	ENSP00000384376	B5MCY1		UPI000173A3F5		deleterious(0.04)		4/4		hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7																	MODERATE	1	SNV	2			1										PASS		rs1490288610	.												T	3	4	63	21140177	21140177	G	T	1	0	0	0	0	1	0	0	0	16141	1319	46	2		2	TDRD15	2	21140177	Missense_Mutation	SNP	G	C3N-00704_TP	5532964	21140177	221053352	79	20576											
CAD	0	.	GRCh38	chr2	27242099	27242099	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgacgtcgtcgtgctccgGcacccccagcctggagcagt	5	6	13	17	5	0	0	0	0	0	0	3	2	1	1	5	2	3	3	5	2	0	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.6072G>T	p.=	p.R2024R	ENST00000264705	39/44	215	181	34	240	239	1	strelka-varscan-mutect	CAD,synonymous_variant,p.=,ENST00000264705,NM_004341.3;CAD,synonymous_variant,p.=,ENST00000403525,NM_001306079.1;CAD,synonymous_variant,p.=,ENST00000428460,;CAD,downstream_gene_variant,,ENST00000456311,;CAD,downstream_gene_variant,,ENST00000458503,;CAD,downstream_gene_variant,,ENST00000491461,;CAD,downstream_gene_variant,,ENST00000487239,;	T	ENST00000264705	Transcript	synonymous_variant	6234/7265	6072/6678	2024/2225	R	cgG/cgT		1		1	CAD	HGNC	HGNC:1424	protein_coding	YES	CCDS1742.1	ENSP00000264705	P27708		UPI000013D558	NM_004341.3			39/44		Gene3D:3.40.50.1370,HAMAP:MF_00001,Pfam_domain:PF02729,Superfamily_domains:SSF53671,TIGRFAM_domain:TIGR00670																	LOW	1	SNV	1			1										PASS		rs1460981806	.												T	2	4	63	27242099	27242099	G	T	1	0	0	0	0	0	0	0	1	2255	1190	42	2		2	CAD	2	27242099	Silent	SNP	G	C3N-00704_TP	6101922	27242099	214951430	80	20577											
C2orf16	0	.	GRCh38	chr2	27577591	27577591	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtattgattccaaagtcatTacatcacgtcccagattctg	11	13	7	10	1	3	2	2	1	1	1	5	2	5	2	2	1	1	1	2	1	3	5	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1019T>A	p.Leu340Ter	p.L340*	ENST00000408964	1/1	315	267	48	341	341	0	strelka-varscan-mutect	C2orf16,stop_gained,p.Leu340Ter,ENST00000408964,NM_032266.3;	A	ENST00000408964	Transcript	stop_gained	1070/6199	1019/5955	340/1984	L/*	tTa/tAa		1		1	C2orf16	HGNC	HGNC:25275	protein_coding	YES	CCDS42666.1	ENSP00000386190	Q68DN1		UPI0000D61179	NM_032266.3			1/1		hmmpanther:PTHR33888																	HIGH	1	SNV				1										PASS		.	.												A	4	1	63	27577591	27577591	T	A	1	0	0	0	0	0	1	0	0	2032	1764	61	4		4	C2orf16	2	27577591	Nonsense_Mutation	SNP	T	C3N-00704_TP	335492	27577591	214615938	81	20578											
PLB1	0	.	GRCh38	chr2	28604738	28604738	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcccttcttccagaaCatccagctccctgtcctggc	6	10	7	18	0	1	1	0	0	1	1	5	1	5	1	5	1	4	2	5	1	1	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2940C>T	p.=	p.N980N	ENST00000327757	41/58	160	129	31	189	189	0	strelka-varscan-mutect	PLB1,synonymous_variant,p.=,ENST00000422425,NM_001170585.1;PLB1,synonymous_variant,p.=,ENST00000327757,NM_153021.4;PLB1,synonymous_variant,p.=,ENST00000404858,;PLB1,synonymous_variant,p.=,ENST00000444257,;PLB1,intron_variant,,ENST00000411743,;PLB1,intron_variant,,ENST00000479065,;	T	ENST00000327757	Transcript	synonymous_variant	2984/5107	2940/4377	980/1458	N	aaC/aaT		1		1	PLB1	HGNC	HGNC:30041	protein_coding	YES	CCDS33168.1	ENSP00000330442	Q6P1J6		UPI0000D6117C	NM_153021.4			41/58		Gene3D:3.40.50.1110,Pfam_domain:PF00657,hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF31,Superfamily_domains:SSF52266																	LOW	1	SNV	1			1										PASS		rs1360944315	.												T	2	4	63	28604738	28604738	C	T	1	0	0	0	0	0	0	0	1	12118	477	17	3		3	PLB1	2	28604738	Silent	SNP	C	C3N-00704_TP	1027147	28604738	213588791	82	20579											
CAPN13	0	.	GRCh38	chr2	30758134	30758134	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcccagccccttcggtattGaatctgtaaagaaaacagaa	14	10	7	10	1	1	3	0	1	1	2	3	3	2	3	3	1	2	2	3	1	7	5	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.778C>G	p.Gln260Glu	p.Q260E	ENST00000295055	8/23	130	122	8	118	118	0	strelka-varscan-mutect	CAPN13,missense_variant,p.Gln260Glu,ENST00000295055,NM_144575.2;CAPN13,non_coding_transcript_exon_variant,,ENST00000465960,;CAPN13,missense_variant,p.Gln260Glu,ENST00000458085,;	C	ENST00000295055	Transcript	missense_variant	955/2683	778/2010	260/669	Q/E	Caa/Gaa		1		-1	CAPN13	HGNC	HGNC:16663	protein_coding	YES	CCDS46252.1	ENSP00000295055	Q6MZZ7		UPI00000463E5	NM_144575.2	tolerated(0.14)		8/23		Gene3D:3.90.70.10,Pfam_domain:PF00648,PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF282,SMART_domains:SM00230,Superfamily_domains:SSF54001																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	63	30758134	30758134	G	C	1	0	0	0	0	1	0	0	0	2318	1304	45	4		4	CAPN13	2	30758134	Missense_Mutation	SNP	G	C3N-00704_TP	2153396	30758134	211435395	83	20580											
LTBP1	0	.	GRCh38	chr2	33252737	33252737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacttgtcagttctggaaGacagtgtatgcaccctctgt	8	12	10	11	1	3	1	1	0	2	1	3	3	3	2	2	1	1	3	2	1	2	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2060G>T	p.Arg687Ile	p.R687I	ENST00000404816	11/34	165	143	22	126	126	0	strelka-varscan-mutect	LTBP1,missense_variant,p.Arg687Ile,ENST00000404816,NM_206943.2;LTBP1,missense_variant,p.Arg361Ile,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,missense_variant,p.Arg361Ile,ENST00000404525,NM_001166265.1;LTBP1,missense_variant,p.Arg361Ile,ENST00000407925,NM_000627.3;LTBP1,missense_variant,p.Arg361Ile,ENST00000402934,;LTBP1,missense_variant,p.Arg43Ile,ENST00000413303,;LTBP1,missense_variant,p.Arg4Ile,ENST00000468091,;	T	ENST00000404816	Transcript	missense_variant	2413/6333	2060/5166	687/1721	R/I	aGa/aTa		1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2	deleterious(0.01)		11/34		Gene3D:3.90.290.10,PROSITE_profiles:PS51364,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF39,Superfamily_domains:SSF57581																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	33252737	33252737	G	T	1	0	0	0	0	1	0	0	0	8979	942	33	2		2	LTBP1	2	33252737	Missense_Mutation	SNP	G	C3N-00704_TP	2494603	33252737	208940792	84	20581											
HEATR5B	0	.	GRCh38	chr2	37003594	37003594	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagcagctcttactatctgTtgtacaactccagtaaccaa	12	12	6	11	0	2	1	0	1	2	0	3	1	3	1	2	0	6	5	2	0	6	5	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.4998A>T	p.Gln1666His	p.Q1666H	ENST00000233099	31/36	182	147	35	224	224	0	strelka-varscan	HEATR5B,missense_variant,p.Gln1666His,ENST00000233099,NM_019024.2;HEATR5B,downstream_gene_variant,,ENST00000471051,;	A	ENST00000233099	Transcript	missense_variant	5094/6905	4998/6216	1666/2071	Q/H	caA/caT		1		-1	HEATR5B	HGNC	HGNC:29273	protein_coding	YES	CCDS33181.1	ENSP00000233099	Q9P2D3		UPI0000160DCD	NM_019024.2	deleterious(0.01)		31/36		hmmpanther:PTHR21663,hmmpanther:PTHR21663:SF2,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	37003594	37003594	T	A	1	0	0	0	0	1	0	0	0	6914	1722	60	4		4	HEATR5B	2	37003594	Missense_Mutation	SNP	T	C3N-00704_TP	3750857	37003594	205189935	85	20582											
OTX1	0	.	GRCh38	chr2	63055964	63055964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggccaaggctaccctacgcCctcctcttcctactttggcg	5	10	8	18	3	1	0	0	0	1	0	3	0	3	0	5	3	3	1	5	3	4	5	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.713C>A	p.Pro238His	p.P238H	ENST00000282549	5/5	361	315	46	427	425	2	strelka-varscan	OTX1,missense_variant,p.Pro238His,ENST00000282549,NM_014562.3;OTX1,missense_variant,p.Pro238His,ENST00000366671,NM_001199770.1;OTX1,3_prime_UTR_variant,,ENST00000405984,;OTX1,downstream_gene_variant,,ENST00000484066,;OTX1,downstream_gene_variant,,ENST00000477348,;OTX1,downstream_gene_variant,,ENST00000476383,;	A	ENST00000282549	Transcript	missense_variant	989/2861	713/1065	238/354	P/H	cCc/cAc		1		1	OTX1	HGNC	HGNC:8521	protein_coding	YES	CCDS1873.1	ENSP00000282549	P32242		UPI0000130F36	NM_014562.3	tolerated(0.05)		5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR24329:SF310,hmmpanther:PTHR24329,Pfam_domain:PF03529																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	63055964	63055964	C	A	1	0	0	0	0	1	0	0	0	11390	623	22	2		2	OTX1	2	63055964	Missense_Mutation	SNP	C	C3N-00704_TP	26052370	63055964	179137565	86	20583											
FBXO41	0	.	GRCh38	chr2	73269478	73269478	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggccgcggcggcggcGgcgccgtcgcagatgctgtt	2	5	20	14	10	0	1	0	0	0	1	1	1	0	1	2	6	1	3	2	6	0	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.153C>A	p.=	p.A51A	ENST00000521871	2/13	174	123	51	138	138	0	strelka-varscan	FBXO41,synonymous_variant,p.=,ENST00000521871,;FBXO41,synonymous_variant,p.=,ENST00000295133,NM_001080410.2;FBXO41,synonymous_variant,p.=,ENST00000520530,;FBXO41,downstream_gene_variant,,ENST00000520186,;FBXO41,upstream_gene_variant,,ENST00000519873,;	T	ENST00000521871	Transcript	synonymous_variant	569/7336	153/2628	51/875	A	gcC/gcA		1		-1	FBXO41	HGNC	HGNC:29409	protein_coding	YES	CCDS46337.2	ENSP00000428646	Q8TF61		UPI0000D611B7				2/13		hmmpanther:PTHR15739,hmmpanther:PTHR15739:SF4,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	63	73269478	73269478	G	T	1	0	0	0	0	0	0	0	1	5613	1103	39	1		1	FBXO41	2	73269478	Silent	SNP	G	C3N-00704_TP	10213514	73269478	168924051	87	20584											
LRRTM4	0	.	GRCh38	chr2	77518498	77518498	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcataagagagtgttgctgGagttgtttcatgctggctgg	7	15	14	5	0	2	1	2	0	0	1	2	3	2	2	0	3	2	6	0	3	1	5	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1371C>A	p.=	p.L457L	ENST00000409093	3/4	139	116	23	165	165	0	strelka-varscan	LRRTM4,synonymous_variant,p.=,ENST00000409088,NM_024993.4;LRRTM4,synonymous_variant,p.=,ENST00000409911,;LRRTM4,synonymous_variant,p.=,ENST00000409282,NM_001282928.1;LRRTM4,synonymous_variant,p.=,ENST00000409093,NM_001282924.1;LRRTM4,synonymous_variant,p.=,ENST00000409884,NM_001134745.1;LRRTM4,downstream_gene_variant,,ENST00000456154,;	T	ENST00000409093	Transcript	synonymous_variant	1708/2247	1371/1773	457/590	L	ctC/ctA		1		-1	LRRTM4	HGNC	HGNC:19411	protein_coding	YES	CCDS46346.1	ENSP00000386357	Q86VH4		UPI0000047808	NM_001282924.1			3/4		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF1																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	63	77518498	77518498	G	T	1	0	0	0	0	0	0	0	1	8948	1161	41	2		2	LRRTM4	2	77518498	Silent	SNP	G	C3N-00704_TP	4249020	77518498	164675031	88	20585											
CNNM3	0	.	GRCh38	chr2	96816409	96816420	+	In_Frame_Del	DEL	GGGCGCGGGTTG	GGGCGCGGGTTG	-																															ctggaggaggatggagcggcGggcgcgggttgggtacgcgg																								novel		C3N-00704_TP	C3N-00704_NB	GGGCGCGGGTTG	GGGCGCGGGTTG																c.134_145delGCGCGGGTTGGG	p.Gly45_Trp48del	p.G45_W48del	ENST00000305510	1/8	43	35	8	64	64	0	sindel-varindel-pindel	CNNM3,inframe_deletion,p.Gly45_Trp48del,ENST00000305510,NM_017623.4;CNNM3,inframe_deletion,p.Gly45_Trp48del,ENST00000377060,NM_199078.2;CNNM4,downstream_gene_variant,,ENST00000377075,NM_020184.3;RP11-353K11.1,upstream_gene_variant,,ENST00000608609,;	-	ENST00000305510	Transcript	inframe_deletion	160-171/3447	132-143/2124	44-48/707	AGAGW/A	gcGGGCGCGGGTTGg/gcg		1		1	CNNM3	HGNC	HGNC:104	protein_coding	YES	CCDS2025.1	ENSP00000305449	Q8NE01		UPI000006CEA7	NM_017623.4			1/8		Low_complexity_(Seg):seg,hmmpanther:PTHR12064,hmmpanther:PTHR12064:SF27																	MODERATE	1	deletion	1	2		1										PASS		.	.												-	7	5	63	96816409	96816409	GGGCGCGGGTTG	-	1	0	1	0	1	0	0	0	0	3394	1103	39	0		0	CNNM3	2	96816409	In_Frame_Del	DEL	GGGCGCGGGTTG	C3N-00704_TP	19297911	96816409	145377120	89	20586											
CNNM3	0	.	GRCh38	chr2	96816428	96816428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgcgggttgggtacgcGgaggggcggcgcgggacacg	4	3	24	10	9	0	0	0	0	0	0	0	2	0	2	0	8	1	2	0	8	1	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.151G>A	p.Gly51Arg	p.G51R	ENST00000305510	1/8	56	45	11	70	70	0	strelka-varscan	CNNM3,missense_variant,p.Gly51Arg,ENST00000305510,NM_017623.4;CNNM3,missense_variant,p.Gly51Arg,ENST00000377060,NM_199078.2;CNNM4,downstream_gene_variant,,ENST00000377075,NM_020184.3;RP11-353K11.1,upstream_gene_variant,,ENST00000608609,;	A	ENST00000305510	Transcript	missense_variant	179/3447	151/2124	51/707	G/R	Gga/Aga		1		1	CNNM3	HGNC	HGNC:104	protein_coding	YES	CCDS2025.1	ENSP00000305449	Q8NE01		UPI000006CEA7	NM_017623.4	tolerated(0.37)		1/8		Low_complexity_(Seg):seg,hmmpanther:PTHR12064,hmmpanther:PTHR12064:SF27																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	96816428	96816428	G	A	1	0	0	0	0	1	0	0	0	3394	1117	39	1		1	CNNM3	2	96816428	Missense_Mutation	SNP	G	C3N-00704_TP	19	96816428	145377101	90	20587											
IL1RL2	0	.	GRCh38	chr2	102192013	102192013	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccataggtggtttaccaaatTtatcagatgagtacaagcaa	15	11	8	7	0	1	2	1	1	0	1	1	2	1	2	2	2	3	3	2	2	7	6			C3N-00704_TP	C3N-00704_NB	T	T																c.382T>G	p.Leu128Val	p.L128V	ENST00000264257	4/12	95	85	10	263	262	1	strelka-varscan	IL1RL2,missense_variant,p.Leu128Val,ENST00000264257,NM_003854.2;IL1RL2,missense_variant,p.Leu128Val,ENST00000421464,;IL1RL2,intron_variant,,ENST00000441515,;IL1RL2,intron_variant,,ENST00000481806,;	G	ENST00000264257	Transcript	missense_variant	508/2615	382/1728	128/575	L/V	Tta/Gta	COSM4924469	1		1	IL1RL2	HGNC	HGNC:5999	protein_coding	YES	CCDS2056.1	ENSP00000264257	Q9HB29		UPI000013D4ED	NM_003854.2	tolerated(0.58)		4/12		Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF9											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	63	102192013	102192013	T	G	1	0	0	0	0	1	0	0	0	7567	1838	64	5		5	IL1RL2	2	102192013	Missense_Mutation	SNP	T	C3N-00704_TP	5375585	102192013	140001516	91	20588											
IL18R1	0	.	GRCh38	chr2	102367955	102367955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacaaaagcagtggatcacaGgaacatgtggagctgaaccc	15	6	11	9	0	1	1	1	1	0	0	1	4	1	4	1	3	5	2	1	3	5	1	rs370305765		C3N-00704_TP	C3N-00704_NB	G	G																c.189G>T	p.Gln63His	p.Q63H	ENST00000409599	4/12	459	379	80	467	467	0	strelka-varscan	IL18R1,missense_variant,p.Gln63His,ENST00000409599,;IL18R1,missense_variant,p.Gln63His,ENST00000233957,NM_003855.3,NM_001282399.1;IL18R1,missense_variant,p.Gln63His,ENST00000410040,;IL18R1,missense_variant,p.Gln63His,ENST00000334376,;	T	ENST00000409599	Transcript	missense_variant	545/3854	189/1626	63/541	Q/H	caG/caT	rs370305765	1		1	IL18R1	HGNC	HGNC:5988	protein_coding	YES	CCDS2060.1	ENSP00000387211	Q13478		UPI000012D871		tolerated(0.84)		4/12		hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF6,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	102367955	102367955	G	T	1	0	0	0	0	1	0	0	0	7555	991	35	2		2	IL18R1	2	102367955	Missense_Mutation	SNP	G	C3N-00704_TP	175942	102367955	139825574	92	20589											
POU3F3	0	.	GRCh38	chr2	104855625	104855625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggggtggcggcggcggcGgcggcgggggcggcgcaggg	1	1	29	10	9	0	0	0	0	0	0	0	0	0	0	0	12	0	1	0	12	0	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.115G>A	p.Gly39Ser	p.G39S	ENST00000361360	1/1	28	19	9	24	24	0	strelka-varscan	POU3F3,missense_variant,p.Gly39Ser,ENST00000361360,NM_006236.1;LINC01158,upstream_gene_variant,,ENST00000413121,;RP11-13J10.1,intron_variant,,ENST00000598623,;LINC01158,upstream_gene_variant,,ENST00000458253,;LINC01158,upstream_gene_variant,,ENST00000454729,;LINC01158,upstream_gene_variant,,ENST00000443988,;LINC01158,upstream_gene_variant,,ENST00000447876,;	A	ENST00000361360	Transcript	missense_variant	115/3064	115/1503	39/500	G/S	Ggc/Agc		1		1	POU3F3	HGNC	HGNC:9216	protein_coding	YES	CCDS33265.1	ENSP00000355001	P20264		UPI0000131D87	NM_006236.1	deleterious_low_confidence(0)		1/1		PIRSF_domain:PIRSF002629,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF73,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												A	3	1	63	104855625	104855625	G	A	1	0	0	0	0	1	0	0	0	12392	1116	39	1		1	POU3F3	2	104855625	Missense_Mutation	SNP	G	C3N-00704_TP	2487670	104855625	137337904	93	20590											
UXS1	0	.	GRCh38	chr2	106104811	106104811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacctgacgtactggaacgcCcttgtctgagacccggatcc	8	9	10	14	3	1	2	0	2	1	1	2	5	2	4	4	2	3	1	4	2	3	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.906G>T	p.Arg302Ser	p.R302S	ENST00000283148	11/15	288	253	35	296	296	0	strelka-varscan	UXS1,missense_variant,p.Arg302Ser,ENST00000283148,NM_001253875.1;UXS1,missense_variant,p.Arg129Ser,ENST00000409032,NM_001253876.1;UXS1,missense_variant,p.Arg297Ser,ENST00000409501,NM_025076.4;UXS1,missense_variant,p.Arg129Ser,ENST00000416298,;UXS1,missense_variant,p.Arg141Ser,ENST00000441952,;UXS1,non_coding_transcript_exon_variant,,ENST00000470053,;UXS1,upstream_gene_variant,,ENST00000497604,;	A	ENST00000283148	Transcript	missense_variant	1004/2099	906/1278	302/425	R/S	agG/agT		1		-1	UXS1	HGNC	HGNC:17729	protein_coding	YES	CCDS58721.1	ENSP00000283148	Q8NBZ7		UPI000003CA36	NM_001253875.1	deleterious(0.02)		11/15		hmmpanther:PTHR10366:SF399,hmmpanther:PTHR10366,Pfam_domain:PF16363,Gene3D:3.90.25.10,Superfamily_domains:SSF51735																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	63	106104811	106104811	C	A	1	0	0	0	0	1	0	0	0	17654	622	22	2		2	UXS1	2	106104811	Missense_Mutation	SNP	C	C3N-00704_TP	1249186	106104811	136088718	94	20591											
TFCP2L1	0	.	GRCh38	chr2	121242443	121242443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcttctcccggtcagtCttctgtttccgatcggctcc	3	15	7	16	3	5	0	1	0	4	0	10	1	8	0	4	2	0	2	4	2	0	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.684G>T	p.Lys228Asn	p.K228N	ENST00000263707	7/15	205	179	26	328	328	0	strelka-varscan	TFCP2L1,missense_variant,p.Lys228Asn,ENST00000263707,NM_014553.2;	A	ENST00000263707	Transcript	missense_variant	782/9292	684/1440	228/479	K/N	aaG/aaT		1		-1	TFCP2L1	HGNC	HGNC:17925	protein_coding	YES	CCDS2134.1	ENSP00000263707	Q9NZI6		UPI0000072817	NM_014553.2	deleterious(0)		7/15		Pfam_domain:PF04516,hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	121242443	121242443	C	A	1	0	0	0	0	1	0	0	0	16229	912	32	2		2	TFCP2L1	2	121242443	Missense_Mutation	SNP	C	C3N-00704_TP	15137632	121242443	120951086	95	20592											
CNTNAP5	0	.	GRCh38	chr2	124221806	124221806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcaactcaactggagaGttggtaagtaggctgactga	12	9	12	8	0	2	3	2	2	0	1	2	4	2	3	0	3	3	5	0	3	4	3			C3N-00704_TP	C3N-00704_NB	G	G																c.184G>A	p.Val62Ile	p.V62I	ENST00000431078	2/24	171	151	20	180	180	0	strelka-varscan	CNTNAP5,missense_variant,p.Val62Ile,ENST00000431078,NM_130773.3;CNTNAP5,non_coding_transcript_exon_variant,,ENST00000470921,;	A	ENST00000431078	Transcript	missense_variant	548/5284	184/3921	62/1306	V/I	Gtt/Att	COSM1006060	1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3	deleterious(0.05)		2/24		PROSITE_profiles:PS50022,Gene3D:2.60.120.260,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	63	124221806	124221806	G	A	1	0	0	0	0	1	0	0	0	3432	1043	36	3		3	CNTNAP5	2	124221806	Missense_Mutation	SNP	G	C3N-00704_TP	2979363	124221806	117971723	96	20593											
CCDC115	0	.	GRCh38	chr2	130341672	130341672	+	Missense_Mutation	SNP	T	T	A																															gaagagggggctcacctgctTcgcgaggccccacctcctct																								novel		C3N-00704_TP	C3N-00704_NB	T	T																c.293A>T	p.Glu98Val	p.E98V	ENST00000259229	3/5	130	110	20	118	118	0	strelka-varscan	CCDC115,missense_variant,p.Glu98Val,ENST00000259229,NM_032357.3;CCDC115,missense_variant,p.Glu93Val,ENST00000409127,;IMP4,upstream_gene_variant,,ENST00000259239,NM_033416.1;IMP4,upstream_gene_variant,,ENST00000409935,;IMP4,upstream_gene_variant,,ENST00000428740,;IMP4,upstream_gene_variant,,ENST00000452955,;IMP4,upstream_gene_variant,,ENST00000409649,;CCDC115,missense_variant,p.Glu98Val,ENST00000442217,;CCDC115,non_coding_transcript_exon_variant,,ENST00000465315,;IMP4,upstream_gene_variant,,ENST00000460766,;IMP4,upstream_gene_variant,,ENST00000462392,;IMP4,upstream_gene_variant,,ENST00000464432,;IMP4,upstream_gene_variant,,ENST00000473689,;IMP4,upstream_gene_variant,,ENST00000490895,;IMP4,upstream_gene_variant,,ENST00000460100,;IMP4,upstream_gene_variant,,ENST00000470672,;IMP4,upstream_gene_variant,,ENST00000477375,;IMP4,upstream_gene_variant,,ENST00000495606,;IMP4,upstream_gene_variant,,ENST00000462357,;IMP4,upstream_gene_variant,,ENST00000475074,;IMP4,upstream_gene_variant,,ENST00000456713,;	A	ENST00000259229	Transcript	missense_variant	517/1646	293/543	98/180	E/V	gAa/gTa		1		-1	CCDC115	HGNC	HGNC:28178	protein_coding	YES	CCDS2159.1	ENSP00000259229	Q96NT0	A0A024QZZ6	UPI000006E81C	NM_032357.3	deleterious(0.04)		3/5		hmmpanther:PTHR31996,hmmpanther:PTHR31996:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	130341672	130341672	T	A	1	0	0	0	0	1	0	0	0	2445	1797	62	4		4	CCDC115	2	130341672	Missense_Mutation	SNP	T	C3N-00704_TP	6119866	130341672	111851857	97	20594	434	2									
CCDC115	0	.	GRCh38	chr2	130341673	130341673	+	Missense_Mutation	SNP	C	C	G																															aagagggggctcacctgcttCgcgaggccccacctcctctg																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.292G>C	p.Glu98Gln	p.E98Q	ENST00000259229	3/5	131	111	20	123	123	0	strelka-varscan	CCDC115,missense_variant,p.Glu98Gln,ENST00000259229,NM_032357.3;CCDC115,missense_variant,p.Glu93Gln,ENST00000409127,;IMP4,upstream_gene_variant,,ENST00000259239,NM_033416.1;IMP4,upstream_gene_variant,,ENST00000409935,;IMP4,upstream_gene_variant,,ENST00000428740,;IMP4,upstream_gene_variant,,ENST00000452955,;IMP4,upstream_gene_variant,,ENST00000409649,;CCDC115,missense_variant,p.Glu98Gln,ENST00000442217,;CCDC115,non_coding_transcript_exon_variant,,ENST00000465315,;IMP4,upstream_gene_variant,,ENST00000460766,;IMP4,upstream_gene_variant,,ENST00000462392,;IMP4,upstream_gene_variant,,ENST00000464432,;IMP4,upstream_gene_variant,,ENST00000473689,;IMP4,upstream_gene_variant,,ENST00000490895,;IMP4,upstream_gene_variant,,ENST00000460100,;IMP4,upstream_gene_variant,,ENST00000470672,;IMP4,upstream_gene_variant,,ENST00000477375,;IMP4,upstream_gene_variant,,ENST00000495606,;IMP4,upstream_gene_variant,,ENST00000462357,;IMP4,upstream_gene_variant,,ENST00000475074,;IMP4,upstream_gene_variant,,ENST00000456713,;	G	ENST00000259229	Transcript	missense_variant	516/1646	292/543	98/180	E/Q	Gaa/Caa		1		-1	CCDC115	HGNC	HGNC:28178	protein_coding	YES	CCDS2159.1	ENSP00000259229	Q96NT0	A0A024QZZ6	UPI000006E81C	NM_032357.3	tolerated(0.06)		3/5		hmmpanther:PTHR31996,hmmpanther:PTHR31996:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	63	130341673	130341673	C	G	1	0	0	0	0	1	0	0	0	2445	893	31	4		4	CCDC115	2	130341673	Missense_Mutation	SNP	C	C3N-00704_TP	1	130341673	111851856	98	20595	434	2									
MAP3K19	0	.	GRCh38	chr2	134998895	134998895	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttttgcaaaactaagggCcgcatggtcagcttcttttt	8	16	8	9	1	3	0	1	0	2	0	3	0	3	0	1	2	3	3	1	2	3	6	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.417G>T	p.=	p.R139R	ENST00000392915	8/13	308	262	46	413	412	1	strelka-varscan	MAP3K19,synonymous_variant,p.=,ENST00000392915,;MAP3K19,synonymous_variant,p.=,ENST00000375845,NM_025052.4;MAP3K19,synonymous_variant,p.=,ENST00000637841,;MAP3K19,synonymous_variant,p.=,ENST00000392917,NM_001282883.1;MAP3K19,synonymous_variant,p.=,ENST00000375844,NM_001018046.2;MAP3K19,synonymous_variant,p.=,ENST00000392918,NM_001018047.2;MAP3K19,intron_variant,,ENST00000358371,NM_001018044.2;MAP3K19,non_coding_transcript_exon_variant,,ENST00000638025,;MAP3K19,downstream_gene_variant,,ENST00000425952,;MAP3K19,non_coding_transcript_exon_variant,,ENST00000468155,;	A	ENST00000392915	Transcript	synonymous_variant	1101/5030	417/3987	139/1328	R	cgG/cgT		1		-1	MAP3K19	HGNC	HGNC:26249	protein_coding	YES	CCDS2176.2	ENSP00000376647		A8MWG7	UPI00004F77F2				8/13																			LOW	1	SNV	2			1										PASS		.	.												A	2	1	63	134998895	134998895	C	A	1	0	0	0	0	0	0	0	1	9172	726	26	2		2	MAP3K19	2	134998895	Silent	SNP	C	C3N-00704_TP	4657222	134998895	107194634	99	20596											
R3HDM1	0	.	GRCh38	chr2	135675433	135675433	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggccaacccaacagcattGgaaatcagattcaaggagtg	14	7	11	9	0	2	1	2	0	0	1	2	3	2	3	2	3	3	1	2	3	4	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2152G>C	p.Gly718Arg	p.G718R	ENST00000409606	19/26	138	113	25	158	158	0	strelka-varscan	R3HDM1,missense_variant,p.Gly717Arg,ENST00000264160,NM_015361.3;R3HDM1,missense_variant,p.Gly662Arg,ENST00000410054,NM_001282800.1;R3HDM1,missense_variant,p.Gly589Arg,ENST00000628915,;R3HDM1,missense_variant,p.Gly589Arg,ENST00000409478,NM_001282799.1;R3HDM1,missense_variant,p.Gly718Arg,ENST00000409606,NM_001282798.1;R3HDM1,missense_variant,p.Gly441Arg,ENST00000429703,;R3HDM1,missense_variant,p.Gly13Arg,ENST00000445855,;	C	ENST00000409606	Transcript	missense_variant	2471/3673	2152/3303	718/1100	G/R	Gga/Cga		1		1	R3HDM1	HGNC	HGNC:9757	protein_coding	YES	CCDS63025.1	ENSP00000387010	Q15032		UPI0001881805	NM_001282798.1	deleterious(0)		19/26		hmmpanther:PTHR15672,hmmpanther:PTHR15672:SF12																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	63	135675433	135675433	G	C	1	0	0	0	0	1	0	0	0	13044	1349	47	4		4	R3HDM1	2	135675433	Missense_Mutation	SNP	G	C3N-00704_TP	676538	135675433	106518096	100	20597											
LRP1B	0	.	GRCh38	chr2	140485465	140485465	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgtgtcagaccaataGaggttttttccaatccaatc	10	16	6	9	0	2	2	1	0	1	2	5	2	4	2	3	1	0	1	3	1	4	6	rs759752435		C3N-00704_TP	C3N-00704_NB	G	G																c.9303C>A	p.=	p.L3101L	ENST00000389484	59/91	148	126	22	200	200	0	strelka-varscan	LRP1B,synonymous_variant,p.=,ENST00000389484,NM_018557.2;	T	ENST00000389484	Transcript	synonymous_variant	10275/16535	9303/13800	3101/4599	L	ctC/ctA	rs759752435,COSM4826976	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2			59/91		PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Pfam_domain:PF16472,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												T	2	4	63	140485465	140485465	G	T	1	0	0	0	0	0	0	0	1	8850	929	33	2		2	LRP1B	2	140485465	Silent	SNP	G	C3N-00704_TP	4810032	140485465	101708064	101	20598											
LRP1B	0	.	GRCh38	chr2	140716811	140716811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtccagtagatggtatCattttctatggataagacac	11	14	9	7	0	3	2	1	0	2	2	4	3	4	3	1	2	0	2	1	2	4	6	rs759977926		C3N-00704_TP	C3N-00704_NB	C	C																c.5764G>T	p.Asp1922Tyr	p.D1922Y	ENST00000389484	36/91	61	53	8	106	106	0	strelka-varscan	LRP1B,missense_variant,p.Asp1922Tyr,ENST00000389484,NM_018557.2;	A	ENST00000389484	Transcript	missense_variant	6736/16535	5764/13800	1922/4599	D/Y	Gat/Tat	rs759977926	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0)		36/91		PROSITE_profiles:PS51120,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	140716811	140716811	C	A	1	0	0	0	0	1	0	0	0	8850	840	29	2		2	LRP1B	2	140716811	Missense_Mutation	SNP	C	C3N-00704_TP	231346	140716811	101476718	102	20599											
RIF1	0	.	GRCh38	chr2	151420239	151420239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaagaggcagtgaggtggGcaaaactggtcataccttta	13	8	14	6	0	1	3	1	1	0	2	1	4	1	3	1	4	2	2	1	4	5	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.553G>T	p.Ala185Ser	p.A185S	ENST00000243326	6/35	154	131	23	174	173	1	strelka-varscan	RIF1,missense_variant,p.Ala185Ser,ENST00000243326,;RIF1,missense_variant,p.Ala185Ser,ENST00000453091,NM_001177663.1;RIF1,missense_variant,p.Ala185Ser,ENST00000430328,NM_001177665.1;RIF1,missense_variant,p.Ala185Ser,ENST00000444746,NM_018151.4;RIF1,missense_variant,p.Ala185Ser,ENST00000428287,NM_001177664.1;RIF1,missense_variant,p.Ala177Ser,ENST00000414861,;RIF1,non_coding_transcript_exon_variant,,ENST00000498041,;RIF1,non_coding_transcript_exon_variant,,ENST00000494333,;	T	ENST00000243326	Transcript	missense_variant	1036/15003	553/7419	185/2472	A/S	Gca/Tca		1		1	RIF1	HGNC	HGNC:23207	protein_coding	YES	CCDS2194.1	ENSP00000243326	Q5UIP0		UPI000023729F		deleterious(0.05)		6/35		hmmpanther:PTHR22928,Pfam_domain:PF12231,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	151420239	151420239	G	T	1	0	0	0	0	1	0	0	0	13533	1203	42	2		2	RIF1	2	151420239	Missense_Mutation	SNP	G	C3N-00704_TP	10703428	151420239	90773290	103	20600											
SCN1A	0	.	GRCh38	chr2	166036507	166036507	+	Frame_Shift_Del	DEL	C	C	-																															gcactaaatgagctcagaagCaaggccagaaagagattcag																										C3N-00704_TP	C3N-00704_NB	C	C																c.2970delG	p.Leu990PhefsTer3	p.L990Ffs*3	ENST00000303395	18/28	84	74	10	147	147	0	sindel-varindel-pindel	SCN1A,frameshift_variant,p.Leu979PhefsTer3,ENST00000635776,;SCN1A,frameshift_variant,p.Leu979PhefsTer3,ENST00000637988,;SCN1A,frameshift_variant,p.Leu990PhefsTer3,ENST00000303395,NM_001202435.1,NM_001165963.1;SCN1A,frameshift_variant,p.Leu979PhefsTer3,ENST00000635750,;SCN1A,frameshift_variant,p.Leu990PhefsTer3,ENST00000423058,;SCN1A,frameshift_variant,p.Leu979PhefsTer3,ENST00000375405,NM_006920.4;SCN1A,frameshift_variant,p.Leu962PhefsTer3,ENST00000409050,NM_001165964.1;AC010127.3,intron_variant,,ENST00000629609,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000628933,;AC010127.3,intron_variant,,ENST00000627027,;AC010127.3,intron_variant,,ENST00000630226,;AC010127.3,intron_variant,,ENST00000595268,;AC010127.3,downstream_gene_variant,,ENST00000597623,;SCN1A,3_prime_UTR_variant,,ENST00000636194,;SCN1A,non_coding_transcript_exon_variant,,ENST00000637968,;SCN1A,upstream_gene_variant,,ENST00000637038,;SCN1A,downstream_gene_variant,,ENST00000636759,;	-	ENST00000303395	Transcript	frameshift_variant	3388/8533	2970/6030	990/2009	L/X	ttG/tt	CM087897	1		-1	SCN1A	HGNC	HGNC:10585	protein_coding	YES	CCDS54413.1	ENSP00000303540	P35498		UPI000003C71D	NM_001202435.1,NM_001165963.1			18/28		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF220,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	HIGH	1	deletion	5		1	1										PASS		.	.												-	7	5	63	166036507	166036507	C	-	1	0	1	0	1	0	0	0	0	14183	709	25	0		0	SCN1A	2	166036507	Frame_Shift_Del	DEL	C	C3N-00704_TP	14616268	166036507	76157022	104	20601											
SCN7A	0	.	GRCh38	chr2	166405857	166405857	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaacaactttctccatcCtcacatcttgacccataact	12	12	2	15	0	3	2	1	2	2	0	5	2	4	2	3	0	3	0	3	0	3	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.4772G>T	p.Arg1591Met	p.R1591M	ENST00000409855	25/25	210	171	39	278	277	1	strelka-varscan	SCN7A,missense_variant,p.Arg1591Met,ENST00000619410,;SCN7A,missense_variant,p.Arg1591Met,ENST00000621965,;SCN7A,missense_variant,p.Arg1591Met,ENST00000409855,NM_002976.3;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	A	ENST00000409855	Transcript	missense_variant	4899/7183	4772/5049	1591/1682	R/M	aGg/aTg		1		-1	SCN7A	HGNC	HGNC:10594	protein_coding	YES	CCDS46442.1	ENSP00000386796	Q01118		UPI0000209019	NM_002976.3	deleterious(0)		25/25		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	166405857	166405857	C	A	1	0	0	0	0	1	0	0	0	14192	681	24	2		2	SCN7A	2	166405857	Missense_Mutation	SNP	C	C3N-00704_TP	369350	166405857	75787672	105	20602											
XIRP2	0	.	GRCh38	chr2	167244871	167244871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaggaggagatccaaggtgGggatgttcgtacagcatgtt	11	9	15	6	1	0	1	0	0	0	1	2	4	1	3	1	5	2	4	1	5	2	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.3479G>A	p.Gly1160Glu	p.G1160E	ENST00000409195	9/11	157	135	22	192	192	0	strelka-varscan	XIRP2,missense_variant,p.Gly1160Glu,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Gly938Glu,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Gly985Glu,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	A	ENST00000409195	Transcript	missense_variant	3568/12675	3479/10650	1160/3549	G/E	gGg/gAg		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	tolerated(0.12)		9/11		PROSITE_profiles:PS51389,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	63	167244871	167244871	G	A	1	0	0	0	0	1	0	0	0	17989	1232	43	3		3	XIRP2	2	167244871	Missense_Mutation	SNP	G	C3N-00704_TP	839014	167244871	74948658	106	20603											
XIRP2	0	.	GRCh38	chr2	167247470	167247470	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagcccccaaaggcactgtAaagattgtcatagatcgtga	15	8	9	9	1	1	3	1	1	0	2	2	3	1	3	2	1	1	2	2	1	5	3	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.6078A>T	p.=	p.V2026V	ENST00000409195	9/11	221	189	32	338	338	0	strelka-varscan	XIRP2,synonymous_variant,p.=,ENST00000409195,NM_152381.5;XIRP2,synonymous_variant,p.=,ENST00000409273,NM_001199144.1;XIRP2,synonymous_variant,p.=,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	T	ENST00000409195	Transcript	synonymous_variant	6167/12675	6078/10650	2026/3549	V	gtA/gtT		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5			9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	63	167247470	167247470	A	T	1	0	0	0	0	0	0	0	1	17989	349	13	4		4	XIRP2	2	167247470	Silent	SNP	A	C3N-00704_TP	2599	167247470	74946059	107	20604											
MYO3B	0	.	GRCh38	chr2	170404373	170404373	+	Frame_Shift_Del	DEL	C	C	-																															tggatgaggaaagtcggtttCcccaagcaactgaccagacc																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2407delC	p.Gln803LysfsTer62	p.Q803Kfs*62	ENST00000408978	20/35	120	106	14	134	134	0	sindel-pindel	MYO3B,frameshift_variant,p.Gln803LysfsTer62,ENST00000408978,NM_138995.4;MYO3B,frameshift_variant,p.Gln803LysfsTer62,ENST00000409044,NM_001083615.3;MYO3B,frameshift_variant,p.Gln812LysfsTer62,ENST00000484338,;AC012594.1,intron_variant,,ENST00000625968,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,upstream_gene_variant,,ENST00000469359,;MYO3B,frameshift_variant,p.Gln803LysfsTer62,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;	-	ENST00000408978	Transcript	frameshift_variant	2547/5529	2404/4026	802/1341	P/X	Ccc/cc		1		1	MYO3B	HGNC	HGNC:15576	protein_coding	YES	CCDS42773.1	ENSP00000386213	Q8WXR4		UPI000020907B	NM_138995.4			20/35		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF476,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	63	170404373	170404373	C	-	1	0	1	0	1	0	0	0	0	10078	855	30	0		0	MYO3B	2	170404373	Frame_Shift_Del	DEL	C	C3N-00704_TP	3156903	170404373	71789156	108	20605											
RAPGEF4	0	.	GRCh38	chr2	172967263	172967263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttccatgtttcccatagtgGaccaggagcaccatttccaa	10	11	7	13	0	0	0	0	0	0	0	3	2	3	2	5	2	1	2	5	2	2	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.823G>T	p.Asp275Tyr	p.D275Y	ENST00000397081	10/31	55	46	9	71	71	0	strelka-varscan	RAPGEF4,missense_variant,p.Asp275Tyr,ENST00000397081,NM_007023.3;RAPGEF4,missense_variant,p.Asp131Tyr,ENST00000397087,NM_001100397.1;RAPGEF4,missense_variant,p.Asp275Tyr,ENST00000409036,;RAPGEF4,missense_variant,p.Asp122Tyr,ENST00000540783,NM_001282899.1;RAPGEF4,missense_variant,p.Asp104Tyr,ENST00000538974,NM_001282900.1;RAPGEF4,missense_variant,p.Asp55Tyr,ENST00000535187,NM_001282901.1;RAPGEF4,splice_region_variant,,ENST00000473043,;RAPGEF4,splice_region_variant,,ENST00000466030,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000459852,;RAPGEF4,downstream_gene_variant,,ENST00000473003,;RAPGEF4,splice_region_variant,,ENST00000473182,;	T	ENST00000397081	Transcript	missense_variant,splice_region_variant	966/4299	823/3036	275/1011	D/Y	Gac/Tac		1		1	RAPGEF4	HGNC	HGNC:16626	protein_coding	YES	CCDS42775.1	ENSP00000380271	Q8WZA2		UPI000006D4C7	NM_007023.3	deleterious(0.02)		10/31		Gene3D:1.10.10.10,Pfam_domain:PF00610,PROSITE_profiles:PS50186,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF175,SMART_domains:SM00049,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	172967263	172967263	G	T	1	0	0	0	0	1	0	0	0	13205	1188	41	2		2	RAPGEF4	2	172967263	Missense_Mutation	SNP	G	C3N-00704_TP	2562890	172967263	69226266	109	20606											
ZNF804A	0	.	GRCh38	chr2	184936198	184936198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcttcaccaacagatgtgCttttgagttctgaggagaaa	13	12	9	7	0	3	4	1	2	2	2	3	5	3	4	1	1	2	2	1	1	3	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.802C>A	p.Leu268Ile	p.L268I	ENST00000302277	4/4	179	150	29	233	233	0	strelka-varscan	ZNF804A,missense_variant,p.Leu268Ile,ENST00000302277,NM_194250.1;ZNF804A,missense_variant,p.Leu183Ile,ENST00000613975,;	A	ENST00000302277	Transcript	missense_variant	1396/4690	802/3630	268/1209	L/I	Ctt/Att		1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1	tolerated(0.21)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	184936198	184936198	C	A	1	0	0	0	0	1	0	0	0	18755	797	28	2		2	ZNF804A	2	184936198	Missense_Mutation	SNP	C	C3N-00704_TP	11968935	184936198	57257331	110	20607											
CALCRL	0	.	GRCh38	chr2	187380562	187380562	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttccatcttggtcacAgatctttgtaactttttctt	7	19	5	10	0	4	1	1	0	3	1	5	1	5	1	2	1	1	2	2	1	1	7	rs764002527		C3N-00704_TP	C3N-00704_NB	A	A																c.313T>A	p.Cys105Ser	p.C105S	ENST00000409998	8/16	114	95	19	170	170	0	strelka-varscan	CALCRL,missense_variant,p.Cys105Ser,ENST00000409998,;CALCRL,missense_variant,p.Cys105Ser,ENST00000392370,NM_005795.5;CALCRL,missense_variant,p.Cys105Ser,ENST00000410068,NM_001271751.1;CALCRL,downstream_gene_variant,,ENST00000447403,;CALCRL,downstream_gene_variant,,ENST00000410102,;AC007319.1,intron_variant,,ENST00000412276,;AC007319.1,intron_variant,,ENST00000453517,;	T	ENST00000409998	Transcript	missense_variant	1095/5223	313/1386	105/461	C/S	Tgt/Agt	rs764002527	1		-1	CALCRL	HGNC	HGNC:16709	protein_coding	YES	CCDS2293.1	ENSP00000386972	Q16602		UPI00000503EF		deleterious(0)		8/16		PROSITE_profiles:PS50227,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF67,Pfam_domain:PF02793,SMART_domains:SM00008,Superfamily_domains:SSF111418																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	187380562	187380562	A	T	1	0	0	0	0	1	0	0	0	2270	188	7	4		4	CALCRL	2	187380562	Missense_Mutation	SNP	A	C3N-00704_TP	2444364	187380562	54812967	111	20608											
HIBCH	0	.	GRCh38	chr2	190290423	190290423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaacagcattattcagcaTatattcttctctgaagaaaa	16	12	4	9	0	3	2	1	1	2	1	4	2	3	2	1	0	3	2	1	0	7	6	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.367A>G	p.Met123Val	p.M123V	ENST00000359678	5/14	179	140	39	423	423	0	strelka-varscan	HIBCH,missense_variant,p.Met123Val,ENST00000392332,NM_198047.2;HIBCH,missense_variant,p.Met123Val,ENST00000359678,NM_014362.3;HIBCH,missense_variant,p.Met177Val,ENST00000409934,;HIBCH,missense_variant,p.Met22Val,ENST00000392333,;	C	ENST00000359678	Transcript	missense_variant	662/1939	367/1161	123/386	M/V	Atg/Gtg		1		-1	HIBCH	HGNC	HGNC:4908	protein_coding	YES	CCDS2304.1	ENSP00000352706	Q6NVY1	A0A140VJL0	UPI000013F16E	NM_014362.3	tolerated(0.42)		5/14		Gene3D:3.90.226.10,Pfam_domain:PF16113,hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF53,Superfamily_domains:SSF52096																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	63	190290423	190290423	T	C	1	0	0	0	0	1	0	0	0	6984	1406	49	5		5	HIBCH	2	190290423	Missense_Mutation	SNP	T	C3N-00704_TP	2909861	190290423	51903106	112	20609											
DNAH7	0	.	GRCh38	chr2	195910047	195910047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttaaagaattttcccaaagCcaaataatccaacccatcag	17	9	3	12	0	1	1	1	0	0	1	3	1	3	1	4	0	2	0	4	0	7	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.4084G>T	p.Ala1362Ser	p.A1362S	ENST00000312428	25/65	114	91	23	151	151	0	strelka-varscan	DNAH7,missense_variant,p.Ala1362Ser,ENST00000312428,NM_018897.2;DNAH7,upstream_gene_variant,,ENST00000475293,;	A	ENST00000312428	Transcript	missense_variant	4185/12394	4084/12075	1362/4024	A/S	Gct/Tct		1		-1	DNAH7	HGNC	HGNC:18661	protein_coding	YES	CCDS42794.1	ENSP00000311273	Q8WXX0		UPI0000141B95	NM_018897.2	deleterious(0.03)		25/65		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF12774,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	195910047	195910047	C	A	1	0	0	0	0	1	0	0	0	4421	739	26	2		2	DNAH7	2	195910047	Missense_Mutation	SNP	C	C3N-00704_TP	5619624	195910047	46283482	113	20610											
C2orf80	0	.	GRCh38	chr2	208189961	208189961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatcgctcaccaaccggaGaccggttccagtgcttttgt	9	10	10	12	3	1	2	1	0	0	2	3	3	2	2	4	2	2	3	4	2	2	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.62C>A	p.Ser21Tyr	p.S21Y	ENST00000451346	1/7	262	222	40	284	284	0	strelka-varscan	C2orf80,missense_variant,p.Ser21Tyr,ENST00000451346,;C2orf80,5_prime_UTR_variant,,ENST00000341287,NM_001099334.2;C2orf80,5_prime_UTR_variant,,ENST00000449053,;C2orf80,upstream_gene_variant,,ENST00000453017,;C2orf80,upstream_gene_variant,,ENST00000423952,;	T	ENST00000451346	Transcript	missense_variant	64/979	62/525	21/174	S/Y	tCt/tAt		1		-1	C2orf80	HGNC	HGNC:34352	protein_coding			ENSP00000405393		C9J2L1	UPI000198C640		deleterious_low_confidence(0.02)		1/7		hmmpanther:PTHR36296																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	63	208189961	208189961	G	T	1	0	0	0	0	1	0	0	0	2051	956	33	2		2	C2orf80	2	208189961	Missense_Mutation	SNP	G	C3N-00704_TP	12279914	208189961	34003568	114	20611											
UNC80	0	.	GRCh38	chr2	209970905	209970905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagcccttatctctcacCacctctgcccttcagcacag	7	11	4	19	0	5	0	3	0	3	0	7	0	5	0	4	0	3	1	4	0	1	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.8006C>G	p.Pro2669Arg	p.P2669R	ENST00000439458	53/64	180	162	18	189	189	0	strelka-varscan	UNC80,missense_variant,p.Pro2669Arg,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Pro2664Arg,ENST00000272845,NM_182587.3;UNC80,missense_variant,p.Pro195Arg,ENST00000333907,;UNC80,non_coding_transcript_exon_variant,,ENST00000477924,;UNC80,downstream_gene_variant,,ENST00000489023,;	G	ENST00000439458	Transcript	missense_variant	8086/13562	8006/9777	2669/3258	P/R	cCa/cGa		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1	deleterious(0)		53/64		Low_complexity_(Seg):seg,hmmpanther:PTHR31781:SF1,hmmpanther:PTHR31781																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	63	209970905	209970905	C	G	1	0	0	0	0	1	0	0	0	17521	594	21	4		4	UNC80	2	209970905	Missense_Mutation	SNP	C	C3N-00704_TP	1780944	209970905	32222624	115	20612											
ABCA12	0	.	GRCh38	chr2	214989380	214989380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaaataaatgaaagagtCagctaggattagacagcaca	20	6	10	5	0	1	3	1	1	0	2	1	5	1	5	0	2	2	2	0	2	7	3			C3N-00704_TP	C3N-00704_NB	C	C																c.3778G>A	p.Asp1260Asn	p.D1260N	ENST00000272895	26/53	335	293	42	401	401	0	strelka-varscan	ABCA12,missense_variant,p.Asp1260Asn,ENST00000272895,NM_173076.2;ABCA12,missense_variant,p.Asp942Asn,ENST00000389661,NM_015657.3;	T	ENST00000272895	Transcript	missense_variant	3998/9100	3778/7788	1260/2595	D/N	Gac/Aac	COSM4806636,COSM4806637	1		-1	ABCA12	HGNC	HGNC:14637	protein_coding	YES	CCDS33372.1	ENSP00000272895	Q86UK0		UPI000019AB7A	NM_173076.2	deleterious(0)		26/53		Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF29,Transmembrane_helices:TMhelix											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	63	214989380	214989380	C	T	1	0	0	0	0	1	0	0	0	34	826	29	3		3	ABCA12	2	214989380	Missense_Mutation	SNP	C	C3N-00704_TP	5018475	214989380	27204149	116	20613											
TNS1	0	.	GRCh38	chr2	217885077	217885077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccttcccaaagacaacccCcaggtcatggatggcacagg	11	6	9	15	0	1	1	1	0	0	1	3	2	3	2	4	4	1	1	4	4	2	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.829G>A	p.Gly277Arg	p.G277R	ENST00000171887	14/33	298	245	53	299	299	0	strelka-varscan	TNS1,missense_variant,p.Gly277Arg,ENST00000171887,NM_022648.4;TNS1,missense_variant,p.Gly277Arg,ENST00000611415,;TNS1,missense_variant,p.Gly277Arg,ENST00000419504,;TNS1,missense_variant,p.Gly277Arg,ENST00000430930,NM_001308023.1;TNS1,missense_variant,p.Gly402Arg,ENST00000446903,;TNS1,missense_variant,p.Gly308Arg,ENST00000310858,;TNS1,missense_variant,p.Gly345Arg,ENST00000413554,;TNS1,missense_variant,p.Gly53Arg,ENST00000453356,;TNS1,5_prime_UTR_variant,,ENST00000615025,;TNS1,non_coding_transcript_exon_variant,,ENST00000479185,;	T	ENST00000171887	Transcript	missense_variant	1282/10331	829/5208	277/1735	G/R	Ggg/Agg		1		-1	TNS1	HGNC	HGNC:11973	protein_coding	YES	CCDS2407.1	ENSP00000171887	Q9HBL0		UPI0000456EEB	NM_022648.4	tolerated(0.08)		14/33		Gene3D:1d5rA02,Pfam_domain:PF10409,PROSITE_profiles:PS51182,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF40,SMART_domains:SM01326,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	217885077	217885077	C	T	1	0	0	0	0	1	0	0	0	16816	623	22	3		3	TNS1	2	217885077	Missense_Mutation	SNP	C	C3N-00704_TP	2895697	217885077	24308452	117	20614											
DOCK10	0	.	GRCh38	chr2	224864996	224864996	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagagcatctgtctgacaGcagcatggtttagatccaca	12	9	9	11	0	2	3	0	1	2	2	3	3	3	3	2	1	3	4	2	1	2	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1349C>G	p.Ala450Gly	p.A450G	ENST00000258390	12/56	490	412	78	520	520	0	strelka-varscan-mutect	DOCK10,missense_variant,p.Ala444Gly,ENST00000409592,NM_001290263.1;DOCK10,missense_variant,p.Ala450Gly,ENST00000258390,NM_014689.2;DOCK10,non_coding_transcript_exon_variant,,ENST00000492369,;	C	ENST00000258390	Transcript	missense_variant	1417/7260	1349/6561	450/2186	A/G	gCt/gGt		1		-1	DOCK10	HGNC	HGNC:23479	protein_coding	YES	CCDS46528.1	ENSP00000258390	Q96BY6		UPI000021D2A7	NM_014689.2	tolerated(0.33)		12/56		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF71																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	63	224864996	224864996	G	C	1	0	0	0	0	1	0	0	0	4500	971	34	4		4	DOCK10	2	224864996	Missense_Mutation	SNP	G	C3N-00704_TP	6979919	224864996	17328533	118	20615											
DOCK10	0	.	GRCh38	chr2	224865051	224865051	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcttcctgctgtctctgaGgtcataaagtgccacactca	10	12	7	12	0	4	1	2	1	2	0	6	1	5	1	2	1	2	1	2	1	3	2	rs754969484		C3N-00704_TP	C3N-00704_NB	G	G																c.1294C>G	p.Leu432Val	p.L432V	ENST00000258390	12/56	301	244	57	334	334	0	strelka-varscan-mutect	DOCK10,missense_variant,p.Leu426Val,ENST00000409592,NM_001290263.1;DOCK10,missense_variant,p.Leu432Val,ENST00000258390,NM_014689.2;DOCK10,non_coding_transcript_exon_variant,,ENST00000492369,;	C	ENST00000258390	Transcript	missense_variant	1362/7260	1294/6561	432/2186	L/V	Ctc/Gtc	rs754969484	1		-1	DOCK10	HGNC	HGNC:23479	protein_coding	YES	CCDS46528.1	ENSP00000258390	Q96BY6		UPI000021D2A7	NM_014689.2	tolerated(1)		12/56		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF71																	MODERATE	1	SNV	5			1										PASS		rs754969484	.												C	3	2	63	224865051	224865051	G	C	1	0	0	0	0	1	0	0	0	4500	1000	35	4		4	DOCK10	2	224865051	Missense_Mutation	SNP	G	C3N-00704_TP	55	224865051	17328478	119	20616											
COL4A4	0	.	GRCh38	chr2	227118722	227118722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagccattgtggccactcaTaccaggtttgcctctgggtc	6	12	11	12	0	2	1	1	1	1	0	3	1	2	1	4	3	3	1	4	3	1	3	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.412A>G	p.Met138Val	p.M138V	ENST00000396625	7/48	365	299	66	364	364	0	strelka-varscan-mutect	COL4A4,missense_variant,p.Met138Val,ENST00000396625,NM_000092.4;	C	ENST00000396625	Transcript	missense_variant	620/9895	412/5073	138/1690	M/V	Atg/Gtg		1		-1	COL4A4	HGNC	HGNC:2206	protein_coding	YES	CCDS42828.1	ENSP00000379866	P53420		UPI000013D987	NM_000092.4	tolerated(0.16)		7/48		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF533,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	63	227118722	227118722	T	C	1	0	0	0	0	1	0	0	0	3482	1406	49	5		5	COL4A4	2	227118722	Missense_Mutation	SNP	T	C3N-00704_TP	2253671	227118722	15074807	120	20617											
GPR55	0	.	GRCh38	chr2	230910836	230910836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaggtgctgaagccatGgatggccagcaggttgagga	12	6	17	6	0	0	2	0	2	0	0	0	5	0	5	2	6	3	3	2	6	3	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.127C>A	p.His43Asn	p.H43N	ENST00000392040	2/2	208	160	48	271	271	0	strelka-varscan-mutect	GPR55,missense_variant,p.His43Asn,ENST00000392040,NM_005683.3;GPR55,missense_variant,p.His43Asn,ENST00000622008,;GPR55,missense_variant,p.His43Asn,ENST00000392039,;GPR55,missense_variant,p.His43Asn,ENST00000438398,;AC012507.4,downstream_gene_variant,,ENST00000454890,;GPR55,missense_variant,p.His43Asn,ENST00000444078,;	T	ENST00000392040	Transcript	missense_variant	320/3828	127/960	43/319	H/N	Cat/Aat		1		-1	GPR55	HGNC	HGNC:4511	protein_coding	YES	CCDS2480.1	ENSP00000375894	Q9Y2T6	A8K858	UPI000006D64F	NM_005683.3	tolerated(0.31)		2/2		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF56,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	63	230910836	230910836	G	T	1	0	0	0	0	1	0	0	0	6584	1348	47	2		2	GPR55	2	230910836	Missense_Mutation	SNP	G	C3N-00704_TP	3792114	230910836	11282693	121	20618											
NGEF	0	.	GRCh38	chr2	232891400	232891400	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgatcctctggaaaggcagGatgaggaaggaggagaaggg	13	5	19	4	0	1	3	0	2	1	1	2	8	2	7	1	7	0	1	1	7	3	0			C3N-00704_TP	C3N-00704_NB	G	G																c.1230C>A	p.=	p.I410I	ENST00000264051	8/15	204	172	32	231	231	0	strelka-varscan-mutect	NGEF,synonymous_variant,p.=,ENST00000264051,NM_019850.2;NGEF,synonymous_variant,p.=,ENST00000373552,NM_001114090.1;NGEF,synonymous_variant,p.=,ENST00000416114,;NGEF,downstream_gene_variant,,ENST00000409079,;NGEF,upstream_gene_variant,,ENST00000424488,;NGEF,downstream_gene_variant,,ENST00000420650,;NGEF,upstream_gene_variant,,ENST00000461944,;	T	ENST00000264051	Transcript	synonymous_variant	1509/3215	1230/2133	410/710	I	atC/atA	COSM5066145,COSM5066146,COSM5066147	1		-1	NGEF	HGNC	HGNC:7807	protein_coding	YES	CCDS2500.1	ENSP00000264051	Q8N5V2		UPI000013D4AE	NM_019850.2			8/15		PROSITE_profiles:PS50010,hmmpanther:PTHR12845:SF8,hmmpanther:PTHR12845,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												T	2	4	63	232891400	232891400	G	T	1	0	0	0	0	0	0	0	1	10430	1164	41	2		2	NGEF	2	232891400	Silent	SNP	G	C3N-00704_TP	1980564	232891400	9302129	122	20619											
SH3BP4	0	.	GRCh38	chr2	235040932	235040932	+	Frame_Shift_Del	DEL	G	G	-																															tagacaaccccacacctttcGgaaatgcaaaggaagtgatt																								rs748959328		C3N-00704_TP	C3N-00704_NB	G	G																c.164delG	p.Gly55GlufsTer6	p.G55Efs*6	ENST00000409212	4/6	107	88	19	138	138	0	sindel-varindel-pindel	SH3BP4,frameshift_variant,p.Gly55GlufsTer6,ENST00000409212,;SH3BP4,frameshift_variant,p.Gly55GlufsTer6,ENST00000392011,NM_014521.2;SH3BP4,frameshift_variant,p.Gly55GlufsTer6,ENST00000344528,;SH3BP4,frameshift_variant,p.Gly55GlufsTer6,ENST00000446904,;SH3BP4,frameshift_variant,p.Gly55GlufsTer6,ENST00000416021,;SH3BP4,frameshift_variant,p.Gly55GlufsTer?,ENST00000444916,;SH3BP4,frameshift_variant,p.Gly55GlufsTer?,ENST00000454947,;	-	ENST00000409212	Transcript	frameshift_variant	670/5231	163/2892	55/963	G/X	Gga/ga	rs748959328	1		1	SH3BP4	HGNC	HGNC:10826	protein_coding	YES	CCDS2513.1	ENSP00000386862	Q9P0V3		UPI000006DA47				4/6		PROSITE_profiles:PS50002,hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF3,Superfamily_domains:SSF50044																	HIGH	1	deletion	5	1		1										PASS		.	.												-	7	5	63	235040932	235040932	G	-	1	0	1	0	1	0	0	0	0	14504	1117	39	0		0	SH3BP4	2	235040932	Frame_Shift_Del	DEL	G	C3N-00704_TP	2149532	235040932	7152597	123	20620											
IQCA1	0	.	GRCh38	chr2	236497360	236497360	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagatctgcacatactttaCgtagaaggtggctaatgttt	13	13	9	6	1	1	2	0	0	1	2	1	2	1	2	0	2	3	4	0	2	6	6	rs369386783		C3N-00704_TP	C3N-00704_NB	C	C																c.160G>T	p.Val54Leu	p.V54L	ENST00000431676	2/19	374	326	48	425	424	1	strelka-varscan-mutect	IQCA1,missense_variant,p.Val47Leu,ENST00000409907,NM_024726.4;IQCA1,missense_variant,p.Val47Leu,ENST00000309507,NM_001270584.1;IQCA1,missense_variant,p.Val54Leu,ENST00000431676,NM_001270585.1;IQCA1,missense_variant,p.Val66Leu,ENST00000418802,;IQCA1,missense_variant,p.Val47Leu,ENST00000254653,;	A	ENST00000431676	Transcript	missense_variant	195/3069	160/2493	54/830	V/L	Gta/Tta	rs369386783	1		-1	IQCA1	HGNC	HGNC:26195	protein_coding	YES	CCDS74677.1	ENSP00000407213		A0A0A0MSY6	UPI0001AE77A0	NM_001270585.1	tolerated(0.47)		2/19		hmmpanther:PTHR14690,hmmpanther:PTHR14690:SF8																	MODERATE	1	SNV	2			1										PASS		rs369386783	.												A	3	1	63	236497360	236497360	C	A	1	0	0	0	0	1	0	0	0	7705	536	19	1		1	IQCA1	2	236497360	Missense_Mutation	SNP	C	C3N-00704_TP	1456428	236497360	5696169	124	20621											
KLHL30	0	.	GRCh38	chr2	238149072	238149072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcctcgctgtgctgcaCtgcacggggagctctacctc	4	9	11	17	3	1	0	0	0	1	0	4	1	1	1	3	2	5	5	3	2	1	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1405C>A	p.Leu469Met	p.L469M	ENST00000409223	7/8	281	245	36	353	353	0	strelka-varscan-mutect	KLHL30,missense_variant,p.Leu469Met,ENST00000409223,NM_198582.3;KLHL30-AS1,downstream_gene_variant,,ENST00000623136,;	A	ENST00000409223	Transcript	missense_variant	1512/3726	1405/1737	469/578	L/M	Ctg/Atg		1		1	KLHL30	HGNC	HGNC:24770	protein_coding	YES	CCDS46555.2	ENSP00000386389	Q0D2K2		UPI00001D7DA5	NM_198582.3	tolerated(0.09)		7/8		Superfamily_domains:0052715,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF9																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	63	238149072	238149072	C	A	1	0	0	0	0	1	0	0	0	8249	564	20	2		2	KLHL30	2	238149072	Missense_Mutation	SNP	C	C3N-00704_TP	1651712	238149072	4044457	125	20622											
CROCC2	0	.	GRCh38	chr2	240963768	240963768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggccgaacaggagaaGgccaggtatggcggccaccc	10	3	16	12	2	0	1	0	0	0	1	0	3	0	1	4	6	2	2	4	6	3	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.3306G>T	p.Lys1102Asn	p.K1102N	ENST00000443866	21/32	110	92	18	120	120	0	strelka-varscan-mutect	CROCC2,missense_variant,p.Lys1102Asn,ENST00000443866,;AC104809.4,intron_variant,,ENST00000418218,;AC104809.4,upstream_gene_variant,,ENST00000457369,;AC104809.4,upstream_gene_variant,,ENST00000438506,;	T	ENST00000443866	Transcript	missense_variant	3490/5382	3306/4968	1102/1655	K/N	aaG/aaT		1		1	CROCC2	HGNC	HGNC:51677	protein_coding	YES		ENSP00000397968	H7BZ55		UPI0004F2364A		deleterious(0)		21/32		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159:SF16,hmmpanther:PTHR23159																	MODERATE		SNV	5			1										PASS		rs1269688872	.												T	3	4	63	240963768	240963768	G	T	1	0	0	0	0	1	0	0	0	3695	1014	35	2		2	CROCC2	2	240963768	Missense_Mutation	SNP	G	C3N-00704_TP	2814696	240963768	1229761	126	20623											
CHL1	0	.	GRCh38	chr3	328213	328213	+	Missense_Mutation	SNP	C	C	T																															ctttttatttcactgaccatCggataattccatcgaacaat																								rs752032870		C3N-00704_TP	C3N-00704_NB	C	C																c.244C>T	p.Arg82Trp	p.R82W	ENST00000256509	5/28	123	95	28	153	153	0	strelka-varscan-mutect	CHL1,missense_variant,p.Arg82Trp,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Arg82Trp,ENST00000620033,NM_001253388.1;CHL1,missense_variant,p.Arg82Trp,ENST00000397491,NM_001253387.1;CHL1,missense_variant,p.Arg82Trp,ENST00000435603,;CHL1,missense_variant,p.Arg82Trp,ENST00000449294,;CHL1,missense_variant,p.Arg82Trp,ENST00000421198,;CHL1,downstream_gene_variant,,ENST00000427688,;CHL1,non_coding_transcript_exon_variant,,ENST00000461289,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	T	ENST00000256509	Transcript	missense_variant	886/8023	244/3675	82/1224	R/W	Cgg/Tgg	rs752032870,COSM1201060	1		1	CHL1	HGNC	HGNC:1939	protein_coding	YES	CCDS2556.1	ENSP00000256509	O00533		UPI000013CF0F	NM_006614.3	deleterious(0)		5/28		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF653,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs752032870	.												T	3	4	63	328213	328213	C	T	1	0	0	0	0	1	0	0	0	3108	875	31	1		1	CHL1	3	328213	Missense_Mutation	SNP	C	C3N-00704_TP		328213	197967346	127	20624	435	2									
CHL1	0	.	GRCh38	chr3	328214	328214	+	Missense_Mutation	SNP	G	G	C																															tttttatttcactgaccatcGgataattccatcgaacaatt																								rs757607863		C3N-00704_TP	C3N-00704_NB	G	G																c.245G>C	p.Arg82Pro	p.R82P	ENST00000256509	5/28	127	98	29	153	153	0	strelka-varscan-mutect	CHL1,missense_variant,p.Arg82Pro,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Arg82Pro,ENST00000620033,NM_001253388.1;CHL1,missense_variant,p.Arg82Pro,ENST00000397491,NM_001253387.1;CHL1,missense_variant,p.Arg82Pro,ENST00000435603,;CHL1,missense_variant,p.Arg82Pro,ENST00000449294,;CHL1,missense_variant,p.Arg82Pro,ENST00000421198,;CHL1,downstream_gene_variant,,ENST00000427688,;CHL1,non_coding_transcript_exon_variant,,ENST00000461289,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	C	ENST00000256509	Transcript	missense_variant	887/8023	245/3675	82/1224	R/P	cGg/cCg	rs757607863,COSM1043950	1		1	CHL1	HGNC	HGNC:1939	protein_coding	YES	CCDS2556.1	ENSP00000256509	O00533		UPI000013CF0F	NM_006614.3	tolerated(0.17)		5/28		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF653,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs757607863	.												C	3	2	63	328214	328214	G	C	1	0	0	0	0	1	0	0	0	3108	1116	39	4		4	CHL1	3	328214	Missense_Mutation	SNP	G	C3N-00704_TP	1	328214	197967345	128	20625	435	2									
CHL1	0	.	GRCh38	chr3	361753	361753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaattacgctacagtggttgGgtacagtgctttcttacatt	10	15	9	7	1	1	0	0	0	1	0	1	0	1	0	0	2	5	4	0	2	5	7			C3N-00704_TP	C3N-00704_NB	G	G																c.1361G>A	p.Gly454Glu	p.G454E	ENST00000256509	13/28	155	122	33	212	212	0	strelka-varscan-mutect	CHL1,missense_variant,p.Gly454Glu,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Gly454Glu,ENST00000620033,NM_001253388.1;CHL1,missense_variant,p.Gly438Glu,ENST00000397491,NM_001253387.1;CHL1-AS1,downstream_gene_variant,,ENST00000417612,;CHL1-AS1,downstream_gene_variant,,ENST00000608098,;CHL1,non_coding_transcript_exon_variant,,ENST00000471332,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	A	ENST00000256509	Transcript	missense_variant	2003/8023	1361/3675	454/1224	G/E	gGg/gAg	COSM1179800	1		1	CHL1	HGNC	HGNC:1939	protein_coding	YES	CCDS2556.1	ENSP00000256509	O00533		UPI000013CF0F	NM_006614.3	deleterious(0.02)		13/28		Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF653,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		rs1459767123	.												A	3	1	63	361753	361753	G	A	1	0	0	0	0	1	0	0	0	3108	1232	43	3		3	CHL1	3	361753	Missense_Mutation	SNP	G	C3N-00704_TP	33539	361753	197933806	129	20626											
ARPC4-TTLL3	0	.	GRCh38	chr3	9825836	9825836	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcacctcgacactcaggtCcagcgctgtgaggacatcct	9	7	11	14	2	1	1	1	1	0	0	4	3	3	2	3	3	1	2	3	3	0	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1191C>A	p.=	p.V397V	ENST00000426895	8/13	367	302	65	516	516	0	strelka-varscan-mutect	TTLL3,synonymous_variant,p.=,ENST00000383827,;TTLL3,synonymous_variant,p.=,ENST00000455274,;TTLL3,synonymous_variant,p.=,ENST00000426895,NM_001025930.3;ARPC4-TTLL3,synonymous_variant,p.=,ENST00000397256,NM_001198793.1;TTLL3,synonymous_variant,p.=,ENST00000430793,;TTLL3,synonymous_variant,p.=,ENST00000443148,;TTLL3,synonymous_variant,p.=,ENST00000310252,;TTLL3,synonymous_variant,p.=,ENST00000452823,;TTLL3,upstream_gene_variant,,ENST00000471058,;TTLL3,upstream_gene_variant,,ENST00000466245,;TTLL3,missense_variant,p.Pro116Thr,ENST00000430390,;TTLL3,synonymous_variant,p.=,ENST00000473661,;TTLL3,synonymous_variant,p.=,ENST00000438141,;TTLL3,3_prime_UTR_variant,,ENST00000427220,;TTLL3,non_coding_transcript_exon_variant,,ENST00000496526,;TTLL3,non_coding_transcript_exon_variant,,ENST00000483051,;TTLL3,non_coding_transcript_exon_variant,,ENST00000492440,;TTLL3,non_coding_transcript_exon_variant,,ENST00000482269,;TTLL3,intron_variant,,ENST00000431204,;TTLL3,downstream_gene_variant,,ENST00000602338,;	A	ENST00000426895	Transcript	synonymous_variant	1210/2767	1191/2748	397/915	V	gtC/gtA		1		1	TTLL3	HGNC	HGNC:24483	protein_coding	YES	CCDS43048.2	ENSP00000392549		J3KQB2	UPI0001B79456	NM_001025930.3			8/13		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51221,Pfam_domain:PF03133																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	63	9825836	9825836	C	A	1	0	0	0	0	0	0	0	1	1116	842	30	2		2	ARPC4-TTLL3	3	9825836	Silent	SNP	C	C3N-00704_TP	9464083	9825836	188469723	130	20627											
XIRP1	0	.	GRCh38	chr3	39189258	39189258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagattcttgcggagctcaGggtggatgtgcctgtagagg	7	10	16	8	1	2	2	1	0	1	2	2	4	2	4	2	4	3	2	2	4	1	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.188C>A	p.Pro63His	p.P63H	ENST00000340369	2/2	116	85	31	202	202	0	strelka-varscan-mutect	XIRP1,missense_variant,p.Pro63His,ENST00000340369,NM_194293.2;XIRP1,missense_variant,p.Pro63His,ENST00000396251,NM_001198621.2;XIRP1,intron_variant,,ENST00000421646,;	T	ENST00000340369	Transcript	missense_variant	417/6460	188/5532	63/1843	P/H	cCt/cAt		1		-1	XIRP1	HGNC	HGNC:14301	protein_coding	YES	CCDS2683.1	ENSP00000343140	Q702N8		UPI00001BFB06	NM_194293.2	deleterious(0)		2/2		hmmpanther:PTHR22591																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	39189258	39189258	G	T	1	0	0	0	0	1	0	0	0	17988	1000	35	2		2	XIRP1	3	39189258	Missense_Mutation	SNP	G	C3N-00704_TP	29363422	39189258	159106301	131	20628											
CACNA2D2	0	.	GRCh38	chr3	50384212	50384212	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagcctttgtagatgtcCgtagggatctgtacagccgc	8	11	11	11	2	2	1	1	0	1	1	3	2	3	2	3	1	3	3	3	1	3	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.636G>T	p.=	p.T212T	ENST00000479441	6/39	124	90	34	187	187	0	strelka-varscan-mutect	CACNA2D2,synonymous_variant,p.=,ENST00000266039,NM_001005505.2;CACNA2D2,synonymous_variant,p.=,ENST00000423994,;CACNA2D2,synonymous_variant,p.=,ENST00000429770,;CACNA2D2,synonymous_variant,p.=,ENST00000360963,NM_001291101.1;CACNA2D2,synonymous_variant,p.=,ENST00000424201,NM_006030.3;CACNA2D2,synonymous_variant,p.=,ENST00000479441,NM_001174051.2;	A	ENST00000479441	Transcript	synonymous_variant	636/3453	636/3453	212/1150	T	acG/acT		1		-1	CACNA2D2	HGNC	HGNC:1400	protein_coding	YES	CCDS54588.1	ENSP00000418081	Q9NY47		UPI0000E5A6AF	NM_001174051.2			6/39		Pfam_domain:PF08399,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF7																	LOW	1	SNV	1			1										PASS		rs1335792927	.												A	2	1	63	50384212	50384212	C	A	1	0	0	0	0	0	0	0	1	2237	639	23	1		1	CACNA2D2	3	50384212	Silent	SNP	C	C3N-00704_TP	11194954	50384212	147911347	132	20629											
STAB1	0	.	GRCh38	chr3	52518581	52518581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcctttcaccatcttcgtgCcgcacgcagatctaatgagc	8	10	9	14	3	3	2	1	1	2	1	4	2	3	2	3	1	2	2	3	1	1	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.4855C>A	p.Pro1619Thr	p.P1619T	ENST00000321725	47/69	227	186	41	390	390	0	strelka-varscan-mutect	STAB1,missense_variant,p.Pro1619Thr,ENST00000321725,NM_015136.2;STAB1,upstream_gene_variant,,ENST00000469989,;STAB1,non_coding_transcript_exon_variant,,ENST00000461325,;STAB1,upstream_gene_variant,,ENST00000481626,;STAB1,upstream_gene_variant,,ENST00000462741,;STAB1,upstream_gene_variant,,ENST00000462681,;	A	ENST00000321725	Transcript	missense_variant	4931/7928	4855/7713	1619/2570	P/T	Ccg/Acg		1		1	STAB1	HGNC	HGNC:18628	protein_coding	YES	CCDS33768.1	ENSP00000312946	Q9NY15		UPI0000140C12	NM_015136.2	deleterious(0)		47/69		Gene3D:2.30.180.10,Pfam_domain:PF02469,PROSITE_profiles:PS50213,hmmpanther:PTHR24038,hmmpanther:PTHR24038:SF2,SMART_domains:SM00554,Superfamily_domains:SSF82153																	MODERATE	1	SNV	1			1										PASS		rs1164265974	.												A	3	1	63	52518581	52518581	C	A	1	0	0	0	0	1	0	0	0	15615	739	26	2		2	STAB1	3	52518581	Missense_Mutation	SNP	C	C3N-00704_TP	2134369	52518581	145776978	133	20630											
ERC2	0	.	GRCh38	chr3	56010550	56010550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctagtctttcccgatcatCtctttctcgctgttctttca	4	20	4	13	2	7	0	2	0	5	0	10	1	8	0	1	0	0	2	1	0	1	6			C3N-00704_TP	C3N-00704_NB	C	C																c.1819G>A	p.Asp607Asn	p.D607N	ENST00000288221	9/18	90	77	13	116	116	0	strelka-varscan-mutect	ERC2,missense_variant,p.Asp607Asn,ENST00000288221,NM_015576.1;ERC2,missense_variant,p.Asp607Asn,ENST00000612797,;ERC2,missense_variant,p.Asp246Asn,ENST00000492584,;ERC2,missense_variant,p.Asp607Asn,ENST00000460849,;	T	ENST00000288221	Transcript	missense_variant	2075/6138	1819/2874	607/957	D/N	Gat/Aat	COSM3596513,COSM3596514	1		-1	ERC2	HGNC	HGNC:31922	protein_coding	YES	CCDS46851.1	ENSP00000288221	O15083		UPI00001C1572	NM_015576.1	deleterious(0.01)		9/18		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10174,hmmpanther:PTHR18861,Low_complexity_(Seg):seg											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	63	56010550	56010550	C	T	1	0	0	0	0	1	0	0	0	5060	913	32	3		3	ERC2	3	56010550	Missense_Mutation	SNP	C	C3N-00704_TP	3491969	56010550	142285009	134	20631											
CADPS	0	.	GRCh38	chr3	62403086	62403086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatcttttcttttacctttaCcatcctaattagtgttttca	9	21	2	9	0	3	0	1	0	2	0	4	0	4	0	3	0	2	1	3	0	5	10	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.3877G>T	p.Val1293Leu	p.V1293L	ENST00000383710	29/30	116	92	24	124	124	0	strelka-varscan-mutect	CADPS,missense_variant,p.Val1293Leu,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Val1284Leu,ENST00000612439,;CADPS,missense_variant,p.Val1214Leu,ENST00000357948,NM_183393.2;CADPS,missense_variant,p.Val1254Leu,ENST00000283269,NM_183394.2;CADPS,missense_variant,p.Val285Leu,ENST00000473635,;CADPS,missense_variant,p.Val162Leu,ENST00000613879,;CADPS,downstream_gene_variant,,ENST00000466621,;CADPS,non_coding_transcript_exon_variant,,ENST00000474560,;CADPS,non_coding_transcript_exon_variant,,ENST00000486172,;	A	ENST00000383710	Transcript	missense_variant	4227/5471	3877/4062	1293/1353	V/L	Gta/Tta		1		-1	CADPS	HGNC	HGNC:1426	protein_coding	YES	CCDS46858.1	ENSP00000373215	Q9ULU8		UPI00001C036A	NM_003716.3	deleterious(0.03)		29/30		hmmpanther:PTHR12166:SF6,hmmpanther:PTHR12166																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	62403086	62403086	C	A	1	0	0	0	0	1	0	0	0	2260	521	18	2		2	CADPS	3	62403086	Missense_Mutation	SNP	C	C3N-00704_TP	6392536	62403086	135892473	135	20632											
PDZRN3	0	.	GRCh38	chr3	73624388	73624388	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgcgtcaagggtagcccGcagccctcctggcagcggcc	5	5	14	17	4	1	0	1	0	0	0	2	0	2	0	5	3	4	3	5	3	2	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.438C>A	p.Cys146Ter	p.C146*	ENST00000263666	1/10	71	54	17	55	55	0	strelka-varscan-mutect	PDZRN3,stop_gained,p.Cys146Ter,ENST00000263666,NM_015009.2;PDZRN3,stop_gained,p.Cys146Ter,ENST00000308537,;PDZRN3-AS1,intron_variant,,ENST00000478988,;PDZRN3-AS1,intron_variant,,ENST00000608743,;PDZRN3-AS1,intron_variant,,ENST00000608304,;PDZRN3-AS1,intron_variant,,ENST00000619517,;CTD-2006M22.2,upstream_gene_variant,,ENST00000625169,;	T	ENST00000263666	Transcript	stop_gained	553/4248	438/3201	146/1066	C/*	tgC/tgA		1		-1	PDZRN3	HGNC	HGNC:17704	protein_coding	YES	CCDS33789.1	ENSP00000263666	Q9UPQ7		UPI00001C1DE6	NM_015009.2			1/10		Superfamily_domains:SSF49599																	HIGH	1	SNV	1			1										PASS		rs1301415586	.												T	4	4	63	73624388	73624388	G	T	1	0	0	0	0	0	1	0	0	11797	1079	38	1		1	PDZRN3	3	73624388	Nonsense_Mutation	SNP	G	C3N-00704_TP	11221302	73624388	124671171	136	20633											
OR5H1	0	.	GRCh38	chr3	98133131	98133131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggactgtgcatccggctatTaatcttgtcatatgtaggtg	8	15	11	7	1	2	0	1	0	1	0	3	1	3	1	1	3	1	3	1	3	4	5	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.434T>C	p.Leu145Ser	p.L145S	ENST00000354565	1/1	197	169	28	332	332	0	strelka-varscan-mutect	OR5H1,missense_variant,p.Leu145Ser,ENST00000354565,NM_001005338.1;RP11-343D2.11,intron_variant,,ENST00000508964,;	C	ENST00000354565	Transcript	missense_variant	434/942	434/942	145/313	L/S	tTa/tCa		1		1	OR5H1	HGNC	HGNC:8346	protein_coding	YES	CCDS33797.1	ENSP00000346575	A6NKK0	A0A126GW79	UPI0000197652	NM_001005338.1	tolerated(0.08)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		rs1467908282	.												C	3	2	63	98133131	98133131	T	C	1	0	0	0	0	1	0	0	0	11229	1764	61	5		5	OR5H1	3	98133131	Missense_Mutation	SNP	T	C3N-00704_TP	24508743	98133131	100162428	137	20634											
OR5H15	0	.	GRCh38	chr3	98169005	98169005	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatgcaagatacaatttttTtccattgcaattggcgtaac	13	14	7	7	1	0	1	0	0	0	1	1	2	1	1	1	1	4	3	1	1	6	7	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.306T>C	p.=	p.F102F	ENST00000356526	1/1	297	233	64	402	402	0	strelka-varscan-mutect	OR5H15,synonymous_variant,p.=,ENST00000356526,NM_001005515.1;OR5H15,synonymous_variant,p.=,ENST00000615035,;	C	ENST00000356526	Transcript	synonymous_variant	306/942	306/942	102/313	F	ttT/ttC		1		1	OR5H15	HGNC	HGNC:31287	protein_coding	YES	CCDS33799.1	ENSP00000373195	A6NDH6		UPI00001606CE	NM_001005515.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF325,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												C	2	2	63	98169005	98169005	T	C	1	0	0	0	0	0	0	0	1	11231	1838	64	5		5	OR5H15	3	98169005	Silent	SNP	T	C3N-00704_TP	35874	98169005	100126554	138	20635											
CLDND1	0	.	GRCh38	chr3	98516840	98516840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggtggagtagttcaattCcagcaacataacaacttact	13	12	7	9	0	2	0	1	0	1	0	3	1	3	1	1	2	5	3	1	2	6	5	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.650G>T	p.Gly217Val	p.G217V	ENST00000394181	6/6	292	245	47	293	293	0	strelka-varscan-mutect	CLDND1,missense_variant,p.Gly194Val,ENST00000503004,;CLDND1,missense_variant,p.Gly194Val,ENST00000394180,NM_019895.2;CLDND1,missense_variant,p.Gly217Val,ENST00000394181,NM_001040182.1;CLDND1,missense_variant,p.Gly194Val,ENST00000341181,NM_001040183.1,NM_001040181.1,NM_001040199.1;CLDND1,missense_variant,p.Gly194Val,ENST00000394185,;CLDND1,missense_variant,p.Gly194Val,ENST00000510545,;CLDND1,missense_variant,p.Gly194Val,ENST00000514537,;CLDND1,missense_variant,p.Gly194Val,ENST00000513287,;CLDND1,missense_variant,p.Gly194Val,ENST00000508902,;CLDND1,missense_variant,p.Gly172Val,ENST00000511667,;CLDND1,missense_variant,p.Gly194Val,ENST00000502299,;CLDND1,missense_variant,p.Gly194Val,ENST00000513452,;CLDND1,missense_variant,p.Gly99Val,ENST00000511081,NM_001040200.1;CLDND1,missense_variant,p.Gly79Val,ENST00000512147,;CLDND1,missense_variant,p.Gly79Val,ENST00000510541,;CLDND1,missense_variant,p.Gly50Val,ENST00000513873,;CLDND1,intron_variant,,ENST00000507874,;CLDND1,intron_variant,,ENST00000506885,;CLDND1,intron_variant,,ENST00000502288,;CLDND1,downstream_gene_variant,,ENST00000507944,;CLDND1,downstream_gene_variant,,ENST00000508659,;CLDND1,downstream_gene_variant,,ENST00000515620,;CLDND1,downstream_gene_variant,,ENST00000508071,;CLDND1,downstream_gene_variant,,ENST00000503621,;CLDND1,downstream_gene_variant,,ENST00000506575,;CLDND1,non_coding_transcript_exon_variant,,ENST00000508503,;CLDND1,non_coding_transcript_exon_variant,,ENST00000507411,;CLDND1,non_coding_transcript_exon_variant,,ENST00000506927,;CLDND1,downstream_gene_variant,,ENST00000502980,;CLDND1,downstream_gene_variant,,ENST00000513988,;CPOX,downstream_gene_variant,,ENST00000512905,;CLDND1,downstream_gene_variant,,ENST00000503799,;	A	ENST00000394181	Transcript	missense_variant	813/2170	650/831	217/276	G/V	gGa/gTa		1		-1	CLDND1	HGNC	HGNC:1322	protein_coding	YES	CCDS46877.1	ENSP00000377735		A0A0R4J2F2	UPI0000469E7B	NM_001040182.1	deleterious(0.01)		6/6		Transmembrane_helices:TMhelix,hmmpanther:PTHR14347,hmmpanther:PTHR14347:SF3,Pfam_domain:PF13903																	MODERATE	1	SNV	1			1										PASS		rs1244290647	.												A	3	1	63	98516840	98516840	C	A	1	0	0	0	0	1	0	0	0	3259	855	30	2		2	CLDND1	3	98516840	Missense_Mutation	SNP	C	C3N-00704_TP	347835	98516840	99778719	139	20636											
CCDC54	0	.	GRCh38	chr3	107378477	107378477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagatactgtccattcaCtgggcccattttgagcttga	9	12	9	11	0	1	3	1	2	0	1	2	4	2	3	3	1	2	1	3	1	1	5	rs367560807		C3N-00704_TP	C3N-00704_NB	C	C																c.890C>A	p.Thr297Asn	p.T297N	ENST00000261058	1/1	261	225	36	291	291	0	strelka-varscan-mutect	CCDC54,missense_variant,p.Thr297Asn,ENST00000261058,NM_032600.2;RP11-446H18.5,intron_variant,,ENST00000599431,;RP11-446H18.5,intron_variant,,ENST00000595232,;RP11-446H18.5,intron_variant,,ENST00000593837,;	A	ENST00000261058	Transcript	missense_variant	1284/1444	890/987	297/328	T/N	aCt/aAt	rs367560807	1		1	CCDC54	HGNC	HGNC:30703	protein_coding	YES	CCDS2949.1	ENSP00000261058	Q8NEL0	A0A140VJF9	UPI000006EB42	NM_032600.2	deleterious(0.03)		1/1		hmmpanther:PTHR37880																	MODERATE	1	SNV				1										PASS		rs367560807	.												A	3	1	63	107378477	107378477	C	A	1	0	0	0	0	1	0	0	0	2528	565	20	2		2	CCDC54	3	107378477	Missense_Mutation	SNP	C	C3N-00704_TP	8861637	107378477	90917082	140	20637											
PHLDB2	0	.	GRCh38	chr3	111920405	111920405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactggaaaagaacattgttGgtgaaaagaccaaggtaaaa	20	7	10	4	0	0	3	0	1	0	2	0	4	0	4	1	3	2	2	1	3	9	3			C3N-00704_TP	C3N-00704_NB	G	G																c.1987G>T	p.Gly663Cys	p.G663C	ENST00000431670	5/18	73	55	18	136	136	0	strelka-varscan-mutect	PHLDB2,missense_variant,p.Gly663Cys,ENST00000431670,NM_001134438.1;PHLDB2,missense_variant,p.Gly663Cys,ENST00000412622,NM_145753.2;PHLDB2,missense_variant,p.Gly690Cys,ENST00000393923,NM_001134437.1;PHLDB2,missense_variant,p.Gly663Cys,ENST00000393925,NM_001134439.1;PHLDB2,missense_variant,p.Gly663Cys,ENST00000481953,;PHLDB2,missense_variant,p.Gly249Cys,ENST00000495180,;PHLDB2,missense_variant,p.Gly663Cys,ENST00000498699,;PHLDB2,downstream_gene_variant,,ENST00000477695,;	T	ENST00000431670	Transcript	missense_variant	2398/6127	1987/3762	663/1253	G/C	Ggt/Tgt	COSM1670419,COSM1670420,COSM1670421	1		1	PHLDB2	HGNC	HGNC:29573	protein_coding	YES	CCDS46886.1	ENSP00000405405	Q86SQ0		UPI0000457152	NM_001134438.1	deleterious(0.01)		5/18		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF21											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	63	111920405	111920405	G	T	1	0	0	0	0	1	0	0	0	11940	1348	47	2		2	PHLDB2	3	111920405	Missense_Mutation	SNP	G	C3N-00704_TP	4541928	111920405	86375154	141	20638											
IGSF11	0	.	GRCh38	chr3	118902719	118902719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtcttatgttgacccGggaccagatgggtcccatta	9	10	11	11	1	1	3	0	1	1	2	2	4	2	4	4	2	0	1	4	2	2	3	rs770373736		C3N-00704_TP	C3N-00704_NB	G	G																c.1097C>A	p.Pro366Gln	p.P366Q	ENST00000393775	7/7	234	193	41	253	253	0	strelka-varscan-mutect	IGSF11,missense_variant,p.Pro365Gln,ENST00000425327,NM_152538.2;IGSF11,missense_variant,p.Pro366Gln,ENST00000393775,NM_001015887.1;IGSF11,missense_variant,p.Pro342Gln,ENST00000489689,;IGSF11,missense_variant,p.Pro365Gln,ENST00000354673,;IGSF11,missense_variant,p.Pro341Gln,ENST00000441144,;IGSF11,missense_variant,p.Pro338Gln,ENST00000491903,;	T	ENST00000393775	Transcript	missense_variant	1403/3495	1097/1296	366/431	P/Q	cCg/cAg	rs770373736	1		-1	IGSF11	HGNC	HGNC:16669	protein_coding	YES	CCDS46891.1	ENSP00000377370	Q5DX21		UPI000013D9B3	NM_001015887.1	deleterious(0.01)		7/7		hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF74																	MODERATE	1	SNV	1			1										PASS		rs770373736	.												T	3	4	63	118902719	118902719	G	T	1	0	0	0	0	1	0	0	0	7505	1116	39	1		1	IGSF11	3	118902719	Missense_Mutation	SNP	G	C3N-00704_TP	6982314	118902719	79392840	142	20639											
PARP14	0	.	GRCh38	chr3	122720308	122720308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcagaatttctgtgtggtgGagctgctgcctagtgatcct	7	13	13	8	0	1	2	0	1	1	1	2	3	2	3	2	2	4	3	2	2	2	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.4861G>A	p.Glu1621Lys	p.E1621K	ENST00000474629	15/17	293	246	47	356	356	0	strelka-varscan-mutect	PARP14,missense_variant,p.Glu1621Lys,ENST00000474629,NM_017554.2;PARP14,non_coding_transcript_exon_variant,,ENST00000475640,;PARP14,missense_variant,p.Glu1462Lys,ENST00000460683,;PARP14,non_coding_transcript_exon_variant,,ENST00000474669,;	A	ENST00000474629	Transcript	missense_variant	5127/7915	4861/5406	1621/1801	E/K	Gag/Aag		1		1	PARP14	HGNC	HGNC:29232	protein_coding	YES	CCDS46894.1	ENSP00000418194	Q460N5		UPI00015A20AB	NM_017554.2	tolerated(0.46)		15/17		PROSITE_profiles:PS51059,hmmpanther:PTHR14453:SF65,hmmpanther:PTHR14453,Gene3D:3.90.228.10,Superfamily_domains:SSF56399																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	63	122720308	122720308	G	A	1	0	0	0	0	1	0	0	0	11538	1175	41	3		3	PARP14	3	122720308	Missense_Mutation	SNP	G	C3N-00704_TP	3817589	122720308	75575251	143	20640											
KALRN	0	.	GRCh38	chr3	124326076	124326076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcaagcagatctccaccCagctggaccaggagtggaag	14	5	11	11	0	2	1	1	0	1	1	3	4	2	4	3	3	2	2	3	3	3	0			C3N-00704_TP	C3N-00704_NB	C	C																c.1183C>A	p.Gln395Lys	p.Q395K	ENST00000240874	7/34	147	120	27	172	172	0	strelka-varscan-mutect	KALRN,missense_variant,p.Gln395Lys,ENST00000360013,NM_001024660.3;KALRN,missense_variant,p.Gln373Lys,ENST00000354186,;KALRN,missense_variant,p.Gln395Lys,ENST00000240874,NM_003947.4;KALRN,missense_variant,p.Gln395Lys,ENST00000460856,NM_001322989.1;KALRN,non_coding_transcript_exon_variant,,ENST00000498499,;	A	ENST00000240874	Transcript	missense_variant	1340/6537	1183/4992	395/1663	Q/K	Cag/Aag	COSM1693359,COSM1693360	1		1	KALRN	HGNC	HGNC:4814	protein_coding	YES	CCDS3027.1	ENSP00000240874	O60229		UPI000012C095	NM_003947.4	tolerated(0.4)		7/34		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,SMART_domains:SM00150,Superfamily_domains:SSF46966											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	63	124326076	124326076	C	A	1	0	0	0	0	1	0	0	0	7884	595	21	2		2	KALRN	3	124326076	Missense_Mutation	SNP	C	C3N-00704_TP	1605768	124326076	73969483	144	20641											
PLXNA1	0	.	GRCh38	chr3	127022164	127022164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgctgaccttcatccGcacgctggaggcacagcgca	7	8	10	16	3	1	1	1	1	0	0	3	2	3	2	3	2	2	5	3	2	0	2	rs752299650		C3N-00704_TP	C3N-00704_NB	G	G																c.4118G>T	p.Arg1373Leu	p.R1373L	ENST00000393409	21/31	313	268	45	375	375	0	strelka-varscan-mutect	PLXNA1,missense_variant,p.Arg1373Leu,ENST00000393409,NM_032242.3;PLXNA1,upstream_gene_variant,,ENST00000503234,;	T	ENST00000393409	Transcript	missense_variant	4118/9066	4118/5691	1373/1896	R/L	cGc/cTc	rs752299650	1		1	PLXNA1	HGNC	HGNC:9099	protein_coding	YES	CCDS33847.2	ENSP00000377061	Q9UIW2		UPI00001A7983	NM_032242.3	deleterious(0.01)		21/31		Pfam_domain:PF08337,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Superfamily_domains:SSF48350																	MODERATE	1	SNV	1			1										PASS		rs752299650	.												T	3	4	63	127022164	127022164	G	T	1	0	0	0	0	1	0	0	0	12225	1087	38	1		1	PLXNA1	3	127022164	Missense_Mutation	SNP	G	C3N-00704_TP	2696088	127022164	71273395	145	20642											
COL6A5	0	.	GRCh38	chr3	130455586	130455586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttggtttaccttccaaGccaaatgtttgagccacaaa	12	13	6	10	0	0	1	0	1	0	0	1	1	1	1	4	1	3	2	4	1	5	6	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.6698G>T	p.Ser2233Ile	p.S2233I	ENST00000265379	38/43	203	171	32	337	336	1	strelka-varscan-mutect	COL6A5,missense_variant,p.Ser2233Ile,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,missense_variant,p.Ser489Ile,ENST00000512836,;COL6A5,missense_variant,p.Ser72Ile,ENST00000512482,;COL6A5,missense_variant,p.Ser180Ile,ENST00000373157,;COL6A5,missense_variant,p.Ser2237Ile,ENST00000312481,;	T	ENST00000265379	Transcript	missense_variant	7192/9214	6698/7836	2233/2611	S/I	aGc/aTc		1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1	deleterious(0)		38/43		hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF133																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	130455586	130455586	G	T	1	0	0	0	0	1	0	0	0	3491	971	34	2		2	COL6A5	3	130455586	Missense_Mutation	SNP	G	C3N-00704_TP	3433422	130455586	67839973	146	20643											
PRR23C	0	.	GRCh38	chr3	139044412	139044412	+	Missense_Mutation	SNP	C	C	T																															cgacgtcctccaggggcacaCgcagggcacagcccgcgtcc																										C3N-00704_TP	C3N-00704_NB	C	C																c.209G>A	p.Arg70His	p.R70H	ENST00000413199	1/1	102	77	25	139	139	0	strelka-mutect	PRR23C,missense_variant,p.Arg70His,ENST00000413199,NM_001134657.1;MRPS22,intron_variant,,ENST00000495075,;	T	ENST00000413199	Transcript	missense_variant	481/2791	209/789	70/262	R/H	cGt/cAt	COSM4831022	1		-1	PRR23C	HGNC	HGNC:37173	protein_coding	YES	CCDS46924.1	ENSP00000396648	Q6ZRP0		UPI00001C0F48	NM_001134657.1	tolerated(0.5)		1/1		hmmpanther:PTHR31813:SF6,hmmpanther:PTHR31813,Pfam_domain:PF10630											1						MODERATE		SNV			1	1										PASS		.	.												T	3	4	63	139044412	139044412	C	T	1	0	0	0	0	1	0	0	0	12731	536	19	1		1	PRR23C	3	139044412	Missense_Mutation	SNP	C	C3N-00704_TP	8588826	139044412	59251147	147	20644	436	2									
PRR23C	0	.	GRCh38	chr3	139044415	139044423	+	In_Frame_Del	DEL	AGGGCACAG	AGGGCACAG	-																															cgtcctccaggggcacacgcAgggcacagcccgcgtccagg																								novel		C3N-00704_TP	C3N-00704_NB	AGGGCACAG	AGGGCACAG																c.198_206delCTGTGCCCT	p.Cys67_Leu69del	p.C67_L69del	ENST00000413199	1/1	99	76	23	152	152	0	sindel-varindel	PRR23C,inframe_deletion,p.Cys67_Leu69del,ENST00000413199,NM_001134657.1;MRPS22,intron_variant,,ENST00000495075,;	-	ENST00000413199	Transcript	inframe_deletion	470-478/2791	198-206/789	66-69/262	GCAL/G	ggCTGTGCCCTg/ggg		1		-1	PRR23C	HGNC	HGNC:37173	protein_coding	YES	CCDS46924.1	ENSP00000396648	Q6ZRP0		UPI00001C0F48	NM_001134657.1			1/1		hmmpanther:PTHR31813:SF6,hmmpanther:PTHR31813,Pfam_domain:PF10630																	MODERATE		deletion				1										PASS		.	.												-	7	5	63	139044415	139044415	AGGGCACAG	-	1	0	1	0	1	0	0	0	0	12731	188	7	0		0	PRR23C	3	139044415	In_Frame_Del	DEL	AGGGCACAG	C3N-00704_TP	3	139044415	59251144	148	20645	436	2									
TRPC1	0	.	GRCh38	chr3	142784992	142784992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggataagaaaaacacaatgGggccagcccttgaaagaata	19	5	10	7	0	0	3	0	1	0	2	0	4	0	4	2	3	2	0	2	3	7	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1249G>A	p.Gly417Arg	p.G417R	ENST00000476941	7/13	106	81	25	175	175	0	strelka-varscan-mutect	TRPC1,missense_variant,p.Gly383Arg,ENST00000273482,;TRPC1,missense_variant,p.Gly383Arg,ENST00000612385,NM_003304.4;TRPC1,missense_variant,p.Gly417Arg,ENST00000476941,NM_001251845.1;TRPC1,non_coding_transcript_exon_variant,,ENST00000480101,;	A	ENST00000476941	Transcript	missense_variant	1735/3061	1249/2382	417/793	G/R	Ggg/Agg		1		1	TRPC1	HGNC	HGNC:12333	protein_coding	YES	CCDS58856.1	ENSP00000419313	P48995		UPI00001374A4	NM_001251845.1	deleterious(0)		7/13		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF56,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	142784992	142784992	G	A	1	0	0	0	0	1	0	0	0	17083	1232	43	3		3	TRPC1	3	142784992	Missense_Mutation	SNP	G	C3N-00704_TP	3740577	142784992	55510567	149	20646											
ERICH6	0	.	GRCh38	chr3	150678519	150678519	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctggaatatccacagAaagttgataagaaattgttt	14	16	7	4	0	1	3	0	1	1	2	2	4	2	4	1	1	0	2	1	1	5	7	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.1147T>A	p.Ser383Thr	p.S383T	ENST00000295910	10/14	96	88	8	229	229	0	strelka-varscan-mutect	ERICH6,missense_variant,p.Ser383Thr,ENST00000295910,NM_152394.4;ERICH6,missense_variant,p.Ser237Thr,ENST00000491361,NM_001308234.1;ERICH6,non_coding_transcript_exon_variant,,ENST00000491716,;	T	ENST00000295910	Transcript	missense_variant	1200/2052	1147/1992	383/663	S/T	Tct/Act		1		-1	ERICH6	HGNC	HGNC:28602	protein_coding	YES	CCDS3151.2	ENSP00000295910	Q7L0X2		UPI000023281A	NM_152394.4	deleterious(0)		10/14		hmmpanther:PTHR23093																	MODERATE	1	SNV	1			1										PASS		rs1171429668	.												T	3	4	63	150678519	150678519	A	T	1	0	0	0	0	1	0	0	0	5086	246	9	4		4	ERICH6	3	150678519	Missense_Mutation	SNP	A	C3N-00704_TP	7893527	150678519	47617040	150	20647											
ZBBX	0	.	GRCh38	chr3	167372844	167372844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaactcacctatattttaGctttacagaatttccaggtt	12	16	5	8	0	1	2	1	1	0	1	2	2	2	2	2	1	3	2	2	1	6	8	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.58C>A	p.Leu20Ile	p.L20I	ENST00000455345	3/21	46	37	9	143	143	0	strelka-varscan-mutect	ZBBX,missense_variant,p.Leu20Ile,ENST00000392766,NM_024687.3;ZBBX,missense_variant,p.Leu20Ile,ENST00000455345,NM_001199201.1;ZBBX,missense_variant,p.Leu20Ile,ENST00000307529,;ZBBX,missense_variant,p.Leu20Ile,ENST00000474464,;ZBBX,5_prime_UTR_variant,,ENST00000392767,;ZBBX,5_prime_UTR_variant,,ENST00000392764,NM_001199202.1;ZBBX,5_prime_UTR_variant,,ENST00000485651,;ZBBX,intron_variant,,ENST00000469220,;ZBBX,non_coding_transcript_exon_variant,,ENST00000473888,;	T	ENST00000455345	Transcript	missense_variant	342/3185	58/2520	20/839	L/I	Cta/Ata		1		-1	ZBBX	HGNC	HGNC:26245	protein_coding	YES	CCDS56296.1	ENSP00000390232	A8MT70		UPI000020A746	NM_001199201.1	deleterious(0)		3/21		hmmpanther:PTHR28634																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	167372844	167372844	G	T	1	0	0	0	0	1	0	0	0	18078	962	34	2		2	ZBBX	3	167372844	Missense_Mutation	SNP	G	C3N-00704_TP	16694325	167372844	30922715	151	20648											
SERPINI2	0	.	GRCh38	chr3	167465597	167465597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtttccaatctcctttGaaataaatagcattcaccag	12	15	4	10	0	3	1	1	1	2	0	5	1	4	1	3	0	1	2	3	0	5	6	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.585C>A	p.Phe195Leu	p.F195L	ENST00000616363	5/10	131	112	19	226	226	0	strelka-varscan-mutect	SERPINI2,missense_variant,p.Phe185Leu,ENST00000476257,;SERPINI2,missense_variant,p.Phe195Leu,ENST00000616363,NM_001012303.2;SERPINI2,missense_variant,p.Phe185Leu,ENST00000264677,NM_006217.4;SERPINI2,missense_variant,p.Phe185Leu,ENST00000461846,;SERPINI2,missense_variant,p.Phe185Leu,ENST00000471111,;SERPINI2,missense_variant,p.Phe185Leu,ENST00000466903,;SERPINI2,downstream_gene_variant,,ENST00000467583,;SERPINI2,downstream_gene_variant,,ENST00000465031,;	T	ENST00000616363	Transcript	missense_variant	786/1769	585/1248	195/415	F/L	ttC/ttA		1		-1	SERPINI2	HGNC	HGNC:8945	protein_coding	YES	CCDS75047.1	ENSP00000481699		A0A0C4DGW9	UPI00004CEC5E	NM_001012303.2	deleterious(0)		5/10		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF51,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	167465597	167465597	G	T	1	0	0	0	0	1	0	0	0	14395	1281	45	2		2	SERPINI2	3	167465597	Missense_Mutation	SNP	G	C3N-00704_TP	92753	167465597	30829962	152	20649											
ECT2	0	.	GRCh38	chr3	172805759	172805759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaacggcacaaggttattgGcacttttaggagtcctcatg	12	11	10	8	1	1	0	1	0	0	0	2	1	2	1	1	4	1	3	1	4	5	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2135G>T	p.Gly712Val	p.G712V	ENST00000392692	21/25	220	178	42	185	184	1	strelka-varscan-mutect	ECT2,missense_variant,p.Gly681Val,ENST00000540509,NM_001258316.1;ECT2,missense_variant,p.Gly680Val,ENST00000417960,;ECT2,missense_variant,p.Gly712Val,ENST00000392692,NM_001258315.1;ECT2,missense_variant,p.Gly681Val,ENST00000232458,NM_018098.5;ECT2,missense_variant,p.Gly681Val,ENST00000441497,;ECT2,missense_variant,p.Gly52Val,ENST00000437296,;ECT2,non_coding_transcript_exon_variant,,ENST00000460860,;ECT2,upstream_gene_variant,,ENST00000486027,;	T	ENST00000392692	Transcript	missense_variant	2311/4158	2135/2745	712/914	G/V	gGc/gTc		1		1	ECT2	HGNC	HGNC:3155	protein_coding	YES	CCDS58860.1	ENSP00000376457	Q9H8V3		UPI00003DFD0A	NM_001258315.1	tolerated(0.05)		21/25		Gene3D:2.30.29.30,hmmpanther:PTHR16777,hmmpanther:PTHR16777:SF2,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	172805759	172805759	G	T	1	0	0	0	0	1	0	0	0	4729	1203	42	2		2	ECT2	3	172805759	Missense_Mutation	SNP	G	C3N-00704_TP	5340162	172805759	25489800	153	20650											
NAALADL2	0	.	GRCh38	chr3	175097118	175097118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgctgcaacttttgccaCgtcttaaaaatactttgcac	12	13	5	11	2	1	0	0	0	1	0	2	0	1	0	1	0	5	3	1	0	6	5			C3N-00704_TP	C3N-00704_NB	C	C																c.372C>A	p.His124Gln	p.H124Q	ENST00000454872	2/14	337	270	67	383	383	0	strelka-varscan-mutect	NAALADL2,missense_variant,p.His124Gln,ENST00000454872,NM_207015.2;NAALADL2,missense_variant,p.His107Gln,ENST00000434257,;NAALADL2-AS3,intron_variant,,ENST00000453180,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000473253,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000485853,;NAALADL2-AS3,intron_variant,,ENST00000436929,;	A	ENST00000454872	Transcript	missense_variant	500/9865	372/2388	124/795	H/Q	caC/caA	COSM4115373	1		1	NAALADL2	HGNC	HGNC:23219	protein_coding	YES	CCDS46960.1	ENSP00000404705	Q58DX5		UPI0000161608	NM_207015.2	tolerated(0.5)		2/14		hmmpanther:PTHR10404:SF32,hmmpanther:PTHR10404											1						MODERATE	1	SNV	1		1	1										PASS		rs993923083	.												A	3	1	63	175097118	175097118	C	A	1	0	0	0	0	1	0	0	0	10134	535	19	1		1	NAALADL2	3	175097118	Missense_Mutation	SNP	C	C3N-00704_TP	2291359	175097118	23198441	154	20651											
ABCF3	0	.	GRCh38	chr3	184188764	184188764	+	Silent	SNP	G	G	T																															gtttctcctccctccagggcGgagggctctgaagctgcaga																								rs145869406		C3N-00704_TP	C3N-00704_NB	G	G																c.840G>T	p.=	p.A280A	ENST00000429586	8/21	204	168	36	237	237	0	strelka-mutect	ABCF3,synonymous_variant,p.=,ENST00000429586,NM_018358.2;ABCF3,synonymous_variant,p.=,ENST00000292808,;AP2M1,downstream_gene_variant,,ENST00000382456,NM_001025205.1;AP2M1,downstream_gene_variant,,ENST00000439647,;AP2M1,downstream_gene_variant,,ENST00000292807,NM_004068.3;AP2M1,downstream_gene_variant,,ENST00000461733,;ABCF3,non_coding_transcript_exon_variant,,ENST00000473311,;ABCF3,non_coding_transcript_exon_variant,,ENST00000498136,;ABCF3,non_coding_transcript_exon_variant,,ENST00000472608,;ABCF3,non_coding_transcript_exon_variant,,ENST00000471226,;ABCF3,upstream_gene_variant,,ENST00000466742,;ABCF3,upstream_gene_variant,,ENST00000468892,;ABCF3,upstream_gene_variant,,ENST00000480562,;ABCF3,downstream_gene_variant,,ENST00000485921,;ABCF3,downstream_gene_variant,,ENST00000478288,;ABCF3,downstream_gene_variant,,ENST00000421340,;ABCF3,downstream_gene_variant,,ENST00000463685,;ABCF3,upstream_gene_variant,,ENST00000489719,;ABCF3,downstream_gene_variant,,ENST00000481116,;ABCF3,downstream_gene_variant,,ENST00000466416,;ABCF3,upstream_gene_variant,,ENST00000480539,;ABCF3,upstream_gene_variant,,ENST00000475728,;	T	ENST00000429586	Transcript	synonymous_variant	1025/2624	840/2130	280/709	A	gcG/gcT	rs145869406	1		1	ABCF3	HGNC	HGNC:72	protein_coding	YES	CCDS3254.1	ENSP00000411471	Q9NUQ8	A0A0S2Z5L1	UPI000007270D	NM_018358.2			8/21		Low_complexity_(Seg):seg,PROSITE_profiles:PS50893,hmmpanther:PTHR19211,hmmpanther:PTHR19211:SF45,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382																	LOW	1	SNV	1			1										PASS		rs145869406	.												T	2	4	63	184188764	184188764	G	T	1	0	0	0	0	0	0	0	1	71	1130	39	1		1	ABCF3	3	184188764	Silent	SNP	G	C3N-00704_TP	9091646	184188764	14106795	155	20652	437	2									
ABCF3	0	.	GRCh38	chr3	184188765	184188765	+	Nonsense_Mutation	SNP	G	G	T																															tttctcctccctccagggcgGagggctctgaagctgcagag																								novel		C3N-00704_TP	C3N-00704_NB	G	G																c.841G>T	p.Glu281Ter	p.E281*	ENST00000429586	8/21	209	174	35	234	234	0	strelka-mutect	ABCF3,stop_gained,p.Glu281Ter,ENST00000429586,NM_018358.2;ABCF3,stop_gained,p.Glu275Ter,ENST00000292808,;AP2M1,downstream_gene_variant,,ENST00000382456,NM_001025205.1;AP2M1,downstream_gene_variant,,ENST00000439647,;AP2M1,downstream_gene_variant,,ENST00000292807,NM_004068.3;AP2M1,downstream_gene_variant,,ENST00000461733,;ABCF3,non_coding_transcript_exon_variant,,ENST00000473311,;ABCF3,non_coding_transcript_exon_variant,,ENST00000498136,;ABCF3,non_coding_transcript_exon_variant,,ENST00000472608,;ABCF3,non_coding_transcript_exon_variant,,ENST00000471226,;ABCF3,upstream_gene_variant,,ENST00000466742,;ABCF3,upstream_gene_variant,,ENST00000468892,;ABCF3,upstream_gene_variant,,ENST00000480562,;ABCF3,downstream_gene_variant,,ENST00000485921,;ABCF3,downstream_gene_variant,,ENST00000478288,;ABCF3,downstream_gene_variant,,ENST00000421340,;ABCF3,downstream_gene_variant,,ENST00000463685,;ABCF3,upstream_gene_variant,,ENST00000489719,;ABCF3,downstream_gene_variant,,ENST00000481116,;ABCF3,downstream_gene_variant,,ENST00000466416,;ABCF3,upstream_gene_variant,,ENST00000480539,;ABCF3,upstream_gene_variant,,ENST00000475728,;	T	ENST00000429586	Transcript	stop_gained	1026/2624	841/2130	281/709	E/*	Gag/Tag		1		1	ABCF3	HGNC	HGNC:72	protein_coding	YES	CCDS3254.1	ENSP00000411471	Q9NUQ8	A0A0S2Z5L1	UPI000007270D	NM_018358.2			8/21		Low_complexity_(Seg):seg,PROSITE_profiles:PS50893,hmmpanther:PTHR19211,hmmpanther:PTHR19211:SF45,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	63	184188765	184188765	G	T	1	0	0	0	0	0	1	0	0	71	1188	41	2		2	ABCF3	3	184188765	Nonsense_Mutation	SNP	G	C3N-00704_TP	1	184188765	14106794	156	20653	437	2									
MUC4	0	.	GRCh38	chr3	195779444	195779444	+	Missense_Mutation	SNP	T	T	C																															ggtgacaggaagaggggtggTgtcacctgtggatgctgagg																								rs62282465		C3N-00704_TP	C3N-00704_NB	T	T																c.12136A>G	p.Thr4046Ala	p.T4046A	ENST00000463781	2/25	182	119	63	268	267	1	strelka-varscan-mutect	MUC4,missense_variant,p.Thr4046Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr4046Ala,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr4046Ala,ENST00000478156,;MUC4,missense_variant,p.Thr4046Ala,ENST00000466475,;MUC4,missense_variant,p.Thr4046Ala,ENST00000477756,;MUC4,missense_variant,p.Thr4046Ala,ENST00000477086,;MUC4,missense_variant,p.Thr4046Ala,ENST00000480843,;MUC4,missense_variant,p.Thr4046Ala,ENST00000462323,;MUC4,missense_variant,p.Thr4046Ala,ENST00000470451,;MUC4,missense_variant,p.Thr4046Ala,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	C	ENST00000463781	Transcript	missense_variant	12596/17110	12136/16239	4046/5412	T/A	Acc/Gcc	rs62282465	1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	tolerated_low_confidence(0.37)		2/25		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs62282465	.												C	3	2	63	195779444	195779444	T	C	1	0	0	0	0	1	0	0	0	9977	1696	59	5		5	MUC4	3	195779444	Missense_Mutation	SNP	T	C3N-00704_TP	11590679	195779444	2516115	157	20654	438	2									
MUC4	0	.	GRCh38	chr3	195779447	195779447	+	Missense_Mutation	SNP	C	C	G																															gacaggaagaggggtggtgtCacctgtggatgctgaggaag																								rs62282466		C3N-00704_TP	C3N-00704_NB	C	C																c.12133G>C	p.Asp4045His	p.D4045H	ENST00000463781	2/25	186	119	67	270	267	3	strelka-varscan-mutect	MUC4,missense_variant,p.Asp4045His,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Asp4045His,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Asp4045His,ENST00000478156,;MUC4,missense_variant,p.Asp4045His,ENST00000466475,;MUC4,missense_variant,p.Asp4045His,ENST00000477756,;MUC4,missense_variant,p.Asp4045His,ENST00000477086,;MUC4,missense_variant,p.Asp4045His,ENST00000480843,;MUC4,missense_variant,p.Asp4045His,ENST00000462323,;MUC4,missense_variant,p.Asp4045His,ENST00000470451,;MUC4,missense_variant,p.Asp4045His,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	G	ENST00000463781	Transcript	missense_variant	12593/17110	12133/16239	4045/5412	D/H	Gac/Cac	rs62282466	1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	tolerated_low_confidence(0.29)		2/25		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs62282466	.												G	3	3	63	195779447	195779447	C	G	1	0	0	0	0	1	0	0	0	9977	826	29	4		4	MUC4	3	195779447	Missense_Mutation	SNP	C	C3N-00704_TP	3	195779447	2516112	158	20655	438	2									
MUC4	0	.	GRCh38	chr3	195779869	195779869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtcggtgacaggaagaGgggtggcgtgacgtgtggat	9	8	20	4	3	0	3	0	2	0	1	1	5	0	5	0	6	0	0	0	6	2	0			C3N-00704_TP	C3N-00704_NB	G	G																c.11711C>G	p.Pro3904Arg	p.P3904R	ENST00000463781	2/25	220	148	72	241	241	0	strelka-varscan-mutect	MUC4,missense_variant,p.Pro3904Arg,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro3904Arg,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro3904Arg,ENST00000478156,;MUC4,missense_variant,p.Pro3904Arg,ENST00000466475,;MUC4,missense_variant,p.Pro3904Arg,ENST00000477756,;MUC4,missense_variant,p.Pro3904Arg,ENST00000477086,;MUC4,missense_variant,p.Pro3904Arg,ENST00000480843,;MUC4,missense_variant,p.Pro3904Arg,ENST00000462323,;MUC4,missense_variant,p.Pro3904Arg,ENST00000470451,;MUC4,missense_variant,p.Pro3904Arg,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	C	ENST00000463781	Transcript	missense_variant	12171/17110	11711/16239	3904/5412	P/R	cCt/cGt	COSM4595468	1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	tolerated_low_confidence(0.08)		2/25													1						MODERATE	1	SNV	5		1	1										PASS		rs878968946	.												C	3	2	63	195779869	195779869	G	C	1	0	0	0	0	1	0	0	0	9977	1000	35	4		4	MUC4	3	195779869	Missense_Mutation	SNP	G	C3N-00704_TP	422	195779869	2515690	159	20656											
PAK2	0	.	GRCh38	chr3	196803031	196803031	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttagggcatgccagaacaGtgggctcgattactacagac	11	9	12	9	1	0	2	0	0	0	2	1	3	0	2	1	2	4	3	1	2	4	3	rs201465227		C3N-00704_TP	C3N-00704_NB	G	G																c.303G>C	p.Gln101His	p.Q101H	ENST00000327134	4/15	90	84	6	110	109	1	varscan-mutect	PAK2,missense_variant,p.Gln101His,ENST00000327134,NM_002577.4;PAK2,upstream_gene_variant,,ENST00000481344,;	C	ENST00000327134	Transcript	missense_variant	625/6139	303/1575	101/524	Q/H	caG/caC	rs201465227	1		1	PAK2	HGNC	HGNC:8591	protein_coding	YES	CCDS3321.1	ENSP00000314067	Q13177		UPI0000141B02	NM_002577.4	deleterious(0.02)		4/15		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF250,Pfam_domain:PF00786,Gene3D:3.90.810.10,SMART_domains:SM00285																	MODERATE	1	SNV	2			1										PASS		rs201465227	.												C	3	2	63	196803031	196803031	G	C	1	0	0	0	0	1	0	0	0	11481	1020	36	4		4	PAK2	3	196803031	Missense_Mutation	SNP	G	C3N-00704_TP	1023162	196803031	1492528	160	20657											
SH3BP2	0	.	GRCh38	chr4	2830029	2830029	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagggaggcagccatgcccGgactctttgtgccccccgtg	6	7	13	15	2	1	0	0	0	1	0	1	2	1	2	5	3	3	1	5	3	1	1	rs375094936		C3N-00704_TP	C3N-00704_NB	G	G																c.1294G>T	p.Gly432Ter	p.G432*	ENST00000503393	8/13	151	124	27	186	185	1	strelka-varscan-mutect	SH3BP2,stop_gained,p.Gly375Ter,ENST00000356331,NM_003023.4;SH3BP2,stop_gained,p.Gly403Ter,ENST00000442312,NM_001145855.1;SH3BP2,stop_gained,p.Gly432Ter,ENST00000503393,NM_001145856.1;SH3BP2,stop_gained,p.Gly375Ter,ENST00000511747,;SH3BP2,stop_gained,p.Gly375Ter,ENST00000435136,;SH3BP2,stop_gained,p.Gly375Ter,ENST00000452765,NM_001122681.1;SH3BP2,downstream_gene_variant,,ENST00000508385,;SH3BP2,downstream_gene_variant,,ENST00000502260,;SH3BP2,downstream_gene_variant,,ENST00000512014,;SH3BP2,downstream_gene_variant,,ENST00000513095,;SH3BP2,downstream_gene_variant,,ENST00000504294,;SH3BP2,downstream_gene_variant,,ENST00000503219,;SH3BP2,downstream_gene_variant,,ENST00000515183,;SH3BP2,stop_gained,p.Gly79Ter,ENST00000513069,;SH3BP2,3_prime_UTR_variant,,ENST00000515737,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000510204,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000515802,;SH3BP2,intron_variant,,ENST00000504450,;SH3BP2,downstream_gene_variant,,ENST00000509677,;SH3BP2,downstream_gene_variant,,ENST00000511185,;SH3BP2,downstream_gene_variant,,ENST00000511663,;SH3BP2,downstream_gene_variant,,ENST00000505941,;SH3BP2,downstream_gene_variant,,ENST00000513020,;	T	ENST00000503393	Transcript	stop_gained	1333/9158	1294/1857	432/618	G/*	Gga/Tga	rs375094936	1		1	SH3BP2	HGNC	HGNC:10825	protein_coding	YES	CCDS54716.1	ENSP00000422168	P78314		UPI00019638E3	NM_001145856.1			8/13		hmmpanther:PTHR15126:SF4,hmmpanther:PTHR15126																	HIGH	1	SNV	1			1										PASS		rs375094936	.												T	4	4	63	2830029	2830029	G	T	1	0	0	0	0	0	1	0	0	14503	1117	39	1		1	SH3BP2	4	2830029	Nonsense_Mutation	SNP	G	C3N-00704_TP		2830029	187384526	161	20658											
EVC	0	.	GRCh38	chr4	5801971	5801971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacactgatggaggcggcaGtggagagcgtctacgtgacc	9	6	17	9	3	1	3	0	2	1	1	1	6	1	5	1	5	2	1	1	5	1	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2326G>T	p.Val776Leu	p.V776L	ENST00000264956	16/21	476	421	55	571	571	0	strelka-varscan-mutect	EVC,missense_variant,p.Val776Leu,ENST00000264956,NM_001306090.1,NM_153717.2;CRMP1,intron_variant,,ENST00000506216,;EVC,downstream_gene_variant,,ENST00000515113,;EVC,downstream_gene_variant,,ENST00000506240,;	T	ENST00000264956	Transcript	missense_variant	2510/6431	2326/2979	776/992	V/L	Gtg/Ttg		1		1	EVC	HGNC	HGNC:3497	protein_coding	YES	CCDS3383.1	ENSP00000264956	P57679		UPI000012A2A5	NM_001306090.1,NM_153717.2	deleterious(0.03)		16/21		hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	5801971	5801971	G	T	1	0	0	0	0	1	0	0	0	5152	1029	36	2		2	EVC	4	5801971	Missense_Mutation	SNP	G	C3N-00704_TP	2971942	5801971	184412584	162	20659											
C4orf50	0	.	GRCh38	chr4	5959584	5959584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccacagtgaccgctgccaGgcacgttccaggatcaagcg	9	7	11	14	3	1	1	1	1	0	0	3	2	3	2	4	2	2	3	4	2	1	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.4318C>A	p.Leu1440Met	p.L1440M	ENST00000531445	12/12	147	120	27	141	141	0	strelka-varscan-mutect	C4orf50,missense_variant,p.Leu1440Met,ENST00000531445,;C4orf50,missense_variant,p.Leu208Met,ENST00000324058,;	T	ENST00000531445	Transcript	missense_variant	4394/6860	4318/4527	1440/1508	L/M	Ctg/Atg		1		-1	C4orf50	HGNC	HGNC:33766	protein_coding	YES		ENSP00000437121		E9PNW5			tolerated(0.2)		12/12		hmmpanther:PTHR36866,Pfam_domain:PF15030																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	5959584	5959584	G	T	1	0	0	0	0	1	0	0	0	2089	991	35	2		2	C4orf50	4	5959584	Missense_Mutation	SNP	G	C3N-00704_TP	157613	5959584	184254971	163	20660											
MAN2B2	0	.	GRCh38	chr4	6610951	6610951	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgtgttgctgtcggagcgGgcacatggcatctccagcca	6	10	13	12	2	1	0	0	0	1	0	3	1	1	1	2	3	3	4	2	3	0	2	rs147196628		C3N-00704_TP	C3N-00704_NB	G	G																c.2331G>T	p.=	p.R777R	ENST00000285599	14/19	176	147	29	224	224	0	strelka-varscan-mutect	MAN2B2,synonymous_variant,p.=,ENST00000505907,;MAN2B2,synonymous_variant,p.=,ENST00000285599,NM_015274.2;MAN2B2,synonymous_variant,p.=,ENST00000504248,NM_001292038.1;MAN2B2,downstream_gene_variant,,ENST00000504960,;	T	ENST00000285599	Transcript	synonymous_variant	2367/5143	2331/3030	777/1009	R	cgG/cgT	rs147196628	1		1	MAN2B2	HGNC	HGNC:29623	protein_coding	YES	CCDS33951.1	ENSP00000285599	Q9Y2E5		UPI000004BF05	NM_015274.2			14/19		hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF28,Gene3D:2.70.98.30,Pfam_domain:PF07748,Superfamily_domains:SSF74650																	LOW	1	SNV	1			1										PASS		rs147196628	.												T	2	4	63	6610951	6610951	G	T	1	0	0	0	0	0	0	0	1	9138	1219	43	2		2	MAN2B2	4	6610951	Silent	SNP	G	C3N-00704_TP	651367	6610951	183603604	164	20661											
ZNF518B	0	.	GRCh38	chr4	10445653	10445653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttggctccagcttggCaacagctttgactggccgtt	5	15	10	11	1	1	1	0	1	1	0	2	1	2	1	2	3	3	5	2	3	1	5	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.676G>A	p.Ala226Thr	p.A226T	ENST00000326756	3/3	112	101	11	162	162	0	strelka-varscan-mutect	ZNF518B,missense_variant,p.Ala226Thr,ENST00000326756,NM_053042.2;ZNF518B,downstream_gene_variant,,ENST00000507515,;	T	ENST00000326756	Transcript	missense_variant	1115/6894	676/3225	226/1074	A/T	Gcc/Acc		1		-1	ZNF518B	HGNC	HGNC:29365	protein_coding	YES	CCDS33960.1	ENSP00000317614	Q9C0D4		UPI0000160B97	NM_053042.2	tolerated(0.44)		3/3		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF188																	MODERATE	1	SNV	3			1										PASS		.	.												T	3	4	63	10445653	10445653	C	T	1	0	0	0	0	1	0	0	0	18535	710	25	3		3	ZNF518B	4	10445653	Missense_Mutation	SNP	C	C3N-00704_TP	3834702	10445653	179768902	165	20662											
GABRA2	0	.	GRCh38	chr4	46250453	46250453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttttctttgcttcagctGgcttgttttctggcttcttg	3	21	9	8	0	4	0	1	0	3	0	4	0	4	0	0	2	2	6	0	2	1	9	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1211C>T	p.Pro404Leu	p.P404L	ENST00000510861	10/10	385	307	78	369	369	0	strelka-varscan-mutect	GABRA2,missense_variant,p.Pro404Leu,ENST00000510861,;GABRA2,missense_variant,p.Pro404Leu,ENST00000514090,;GABRA2,missense_variant,p.Pro404Leu,ENST00000356504,NM_001114175.1;GABRA2,missense_variant,p.Pro380Leu,ENST00000540012,NM_001286827.1;GABRA2,missense_variant,p.Pro404Leu,ENST00000381620,NM_000807.2;GABRA2,missense_variant,p.Pro464Leu,ENST00000507069,;GABRA2,3_prime_UTR_variant,,ENST00000630416,;GABRA2,3_prime_UTR_variant,,ENST00000510233,;GABRA2,3_prime_UTR_variant,,ENST00000513005,;	A	ENST00000510861	Transcript	missense_variant	1385/3411	1211/1356	404/451	P/L	cCa/cTa		1		-1	GABRA2	HGNC	HGNC:4076	protein_coding	YES	CCDS3471.1	ENSP00000421828	P47869	A0A024R9X6	UPI000013DC88		tolerated(0.14)		10/10		Low_complexity_(Seg):seg,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF218,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR01615																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	63	46250453	46250453	G	A	1	0	0	0	0	1	0	0	0	6032	1348	47	3		3	GABRA2	4	46250453	Missense_Mutation	SNP	G	C3N-00704_TP	35804800	46250453	143964102	166	20663											
GABRA2	0	.	GRCh38	chr4	46305655	46305655	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatcaggagcaacctgtaCtgaatcagatgcattgtaag	13	9	10	9	0	2	2	2	1	0	1	2	3	2	3	2	1	4	4	2	1	4	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.616G>C	p.Val206Leu	p.V206L	ENST00000510861	7/10	145	122	23	240	240	0	strelka-varscan-mutect	GABRA2,missense_variant,p.Val206Leu,ENST00000510861,;GABRA2,missense_variant,p.Val206Leu,ENST00000514090,;GABRA2,missense_variant,p.Val206Leu,ENST00000356504,NM_001114175.1;GABRA2,missense_variant,p.Val122Leu,ENST00000540012,NM_001286827.1;GABRA2,missense_variant,p.Val206Leu,ENST00000381620,NM_000807.2;GABRA2,missense_variant,p.Val206Leu,ENST00000515082,;GABRA2,missense_variant,p.Val206Leu,ENST00000507069,;GABRA2,3_prime_UTR_variant,,ENST00000630416,;GABRA2,intron_variant,,ENST00000510233,;GABRA2,intron_variant,,ENST00000513005,;GABRA2,upstream_gene_variant,,ENST00000514236,;GABRA2,downstream_gene_variant,,ENST00000514193,;	G	ENST00000510861	Transcript	missense_variant	790/3411	616/1356	206/451	V/L	Gta/Cta		1		-1	GABRA2	HGNC	HGNC:4076	protein_coding	YES	CCDS3471.1	ENSP00000421828	P47869	A0A024R9X6	UPI000013DC88		deleterious(0.04)		7/10		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF218,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932,Prints_domain:PR01079																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	63	46305655	46305655	C	G	1	0	0	0	0	1	0	0	0	6032	565	20	4		4	GABRA2	4	46305655	Missense_Mutation	SNP	C	C3N-00704_TP	55202	46305655	143908900	167	20664											
KIAA1211	0	.	GRCh38	chr4	56298240	56298240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactattctatgggaacccGggcattttcccatgacagta	11	11	8	11	1	1	1	0	1	1	0	2	2	2	2	2	2	2	2	2	2	5	6	rs763160970		C3N-00704_TP	C3N-00704_NB	G	G																c.11G>T	p.Arg4Leu	p.R4L	ENST00000504228	2/9	120	101	19	101	101	0	strelka-varscan-mutect	KIAA1211,missense_variant,p.Arg4Leu,ENST00000504228,;KIAA1211,missense_variant,p.Arg4Leu,ENST00000264229,NM_020722.1;KIAA1211,missense_variant,p.Arg4Leu,ENST00000636006,;KIAA1211,missense_variant,p.Arg4Leu,ENST00000629263,;KIAA1211,5_prime_UTR_variant,,ENST00000541073,;KIAA1211,non_coding_transcript_exon_variant,,ENST00000503618,;	T	ENST00000504228	Transcript	missense_variant	116/4628	11/3702	4/1233	R/L	cGg/cTg	rs763160970	1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309		deleterious(0)		2/9																			MODERATE	1	SNV	5			1										PASS		rs763160970	.												T	3	4	63	56298240	56298240	G	T	1	0	0	0	0	1	0	0	0	8107	1116	39	1		1	KIAA1211	4	56298240	Missense_Mutation	SNP	G	C3N-00704_TP	9992585	56298240	133916315	168	20665											
UGT2B4	0	.	GRCh38	chr4	69486692	69486692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcccatcaaatctccacAgaacctgttacagtgaagaa	15	10	5	11	0	2	3	1	1	1	2	4	3	3	3	3	0	2	1	3	0	6	3	rs532930350		C3N-00704_TP	C3N-00704_NB	A	A																c.1007T>C	p.Leu336Pro	p.L336P	ENST00000305107	4/6	72	61	11	180	180	0	strelka-varscan-mutect	UGT2B4,missense_variant,p.Leu336Pro,ENST00000305107,NM_021139.2;UGT2B4,missense_variant,p.Leu336Pro,ENST00000512583,NM_001297615.1;UGT2B4,non_coding_transcript_exon_variant,,ENST00000506580,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000502655,;UGT2B4,downstream_gene_variant,,ENST00000503836,;	G	ENST00000305107	Transcript	missense_variant	1054/2103	1007/1587	336/528	L/P	cTg/cCg	rs532930350	1		-1	UGT2B4	HGNC	HGNC:12553	protein_coding	YES	CCDS43234.1	ENSP00000305221	P06133		UPI000000087F	NM_021139.2	deleterious(0)		4/6		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF198,Pfam_domain:PF00201,Gene3D:3.40.50.2000,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	63	69486692	69486692	A	G	1	0	0	0	0	1	0	0	0	17485	202	7	5		5	UGT2B4	4	69486692	Missense_Mutation	SNP	A	C3N-00704_TP	13188452	69486692	120727863	169	20666											
SULT1E1	0	.	GRCh38	chr4	69849558	69849558	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcattccggcaaagataGattatctaagaggatgaaat	15	12	9	5	1	1	4	0	1	1	3	2	5	2	5	1	2	1	2	1	2	5	5			C3N-00704_TP	C3N-00704_NB	G	G																c.375C>A	p.=	p.I125I	ENST00000226444	5/8	75	61	14	119	119	0	strelka-varscan-mutect	SULT1E1,synonymous_variant,p.=,ENST00000226444,NM_005420.2;SULT1E1,non_coding_transcript_exon_variant,,ENST00000504002,;SULT1E1,upstream_gene_variant,,ENST00000506796,;	T	ENST00000226444	Transcript	synonymous_variant	488/1780	375/885	125/294	I	atC/atA	COSM373155,COSM4398217	1		-1	SULT1E1	HGNC	HGNC:11377	protein_coding	YES	CCDS3531.1	ENSP00000226444	P49888	Q53X91	UPI00000623C8	NM_005420.2			5/8		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF53,Superfamily_domains:SSF52540											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	63	69849558	69849558	G	T	1	0	0	0	0	0	0	0	1	15766	956	33	2		2	SULT1E1	4	69849558	Silent	SNP	G	C3N-00704_TP	362866	69849558	120364997	170	20667											
SDAD1	0	.	GRCh38	chr4	75971375	75971375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgagcactttcattgcCttttccaactttttcttgtt	6	20	4	11	0	2	1	1	1	1	0	3	1	3	1	3	0	3	2	3	0	1	9	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.795G>T	p.Lys265Asn	p.K265N	ENST00000356260	9/22	125	104	21	161	161	0	strelka-mutect	SDAD1,missense_variant,p.Lys265Asn,ENST00000356260,NM_001288984.1,NM_018115.3;SDAD1,missense_variant,p.Lys228Asn,ENST00000395711,NM_001288983.1;SDAD1,non_coding_transcript_exon_variant,,ENST00000513089,;SDAD1,non_coding_transcript_exon_variant,,ENST00000507396,;SDAD1,downstream_gene_variant,,ENST00000515836,;SDAD1,3_prime_UTR_variant,,ENST00000395710,;SDAD1,downstream_gene_variant,,ENST00000503411,;	A	ENST00000356260	Transcript	missense_variant	914/3017	795/2064	265/687	K/N	aaG/aaT		1		-1	SDAD1	HGNC	HGNC:25537	protein_coding	YES	CCDS3573.2	ENSP00000348596	Q9NVU7		UPI000020B02A	NM_001288984.1,NM_018115.3	tolerated(0.05)		9/22		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12730:SF0,hmmpanther:PTHR12730,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs1231557205	.												A	3	1	63	75971375	75971375	C	A	1	0	0	0	0	1	0	0	0	14222	680	24	2		2	SDAD1	4	75971375	Missense_Mutation	SNP	C	C3N-00704_TP	6121817	75971375	114243180	171	20668											
FRAS1	0	.	GRCh38	chr4	78337693	78337693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagtgtcacccaacctgcagGcagtgtcatgggccgttgga	8	8	14	11	1	2	0	2	0	0	0	2	2	2	1	3	3	2	3	3	3	1	1	rs749090827		C3N-00704_TP	C3N-00704_NB	G	G																c.2298G>T	p.Arg766Ser	p.R766S	ENST00000512123	20/74	118	101	17	130	129	1	strelka-varscan	FRAS1,missense_variant,p.Arg766Ser,ENST00000512123,NM_025074.6;FRAS1,missense_variant,p.Arg766Ser,ENST00000325942,NM_001166133.1;FRAS1,missense_variant,p.Arg609Ser,ENST00000508900,;FRAS1,intron_variant,,ENST00000264899,;	T	ENST00000512123	Transcript	missense_variant	2738/15624	2298/12039	766/4012	R/S	agG/agT	rs749090827	1		1	FRAS1	HGNC	HGNC:19185	protein_coding	YES	CCDS54771.1	ENSP00000422834	Q86XX4		UPI000021D4C2	NM_025074.6	tolerated(0.23)		20/74		Gene3D:2.10.220.10,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF29,SMART_domains:SM00181,SMART_domains:SM00261																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	78337693	78337693	G	T	1	0	0	0	0	1	0	0	0	5908	1194	42	2		2	FRAS1	4	78337693	Missense_Mutation	SNP	G	C3N-00704_TP	2366318	78337693	111876862	172	20669											
UNC5C	0	.	GRCh38	chr4	95170272	95170272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgctgaaagcactgggccCcgtgaccgtggtgatggtgt	7	9	16	9	2	0	3	0	3	0	0	0	4	0	3	3	3	2	2	3	3	1	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2512G>A	p.Gly838Arg	p.G838R	ENST00000453304	15/16	239	203	36	252	251	1	strelka-varscan	UNC5C,missense_variant,p.Gly838Arg,ENST00000453304,NM_003728.3;UNC5C,missense_variant,p.Gly797Arg,ENST00000610318,;	T	ENST00000453304	Transcript	missense_variant	2861/9875	2512/2796	838/931	G/R	Ggg/Agg		1		-1	UNC5C	HGNC	HGNC:12569	protein_coding	YES	CCDS3643.1	ENSP00000406022	O95185		UPI000004E6A5	NM_003728.3	deleterious(0.01)		15/16		Gene3D:1.10.533.10,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7,SMART_domains:SM00005																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	95170272	95170272	C	T	1	0	0	0	0	1	0	0	0	17517	623	22	3		3	UNC5C	4	95170272	Missense_Mutation	SNP	C	C3N-00704_TP	16832579	95170272	95044283	173	20670											
STPG2	0	.	GRCh38	chr4	97559110	97559110	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttcctttctttttctccTgggatatctgtttaataaga	8	20	6	7	0	3	1	0	0	3	1	5	3	4	2	2	1	0	1	2	1	3	8	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1328A>T	p.Gln443Leu	p.Q443L	ENST00000295268	11/11	82	67	15	175	175	0	strelka-varscan	STPG2,missense_variant,p.Gln443Leu,ENST00000295268,NM_174952.2;STPG2,intron_variant,,ENST00000522676,;RP11-681L8.1,intron_variant,,ENST00000518105,;RP11-681L8.1,intron_variant,,ENST00000521680,;STPG2,intron_variant,,ENST00000506482,;	A	ENST00000295268	Transcript	missense_variant	1418/1652	1328/1380	443/459	Q/L	cAg/cTg		1		-1	STPG2	HGNC	HGNC:28712	protein_coding	YES	CCDS3645.1	ENSP00000295268	Q8N412		UPI00000734EC	NM_174952.2	tolerated(0.06)		11/11		hmmpanther:PTHR21580,hmmpanther:PTHR21580:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	97559110	97559110	T	A	1	0	0	0	0	1	0	0	0	15700	1580	55	4		4	STPG2	4	97559110	Missense_Mutation	SNP	T	C3N-00704_TP	2388838	97559110	92655445	174	20671											
RP11-766F14.2	0	.	GRCh38	chr4	99653946	99653946	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcttgctgctgggttCatcttgggctttctcctttg	2	18	12	9	0	4	0	1	0	3	0	5	1	4	1	1	3	2	4	1	3	0	5	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.703G>T	p.Glu235Ter	p.E235*	ENST00000511828	1/2	221	178	43	231	231	0	strelka-varscan	RP11-766F14.2,stop_gained,p.Glu235Ter,ENST00000511828,;	A	ENST00000511828	Transcript	stop_gained	703/10086	703/5382	235/1793	E/*	Gaa/Taa		1		-1	RP11-766F14.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000427555		D6RIA3	UPI0001D3B6FE				1/2																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	63	99653946	99653946	C	A	1	0	0	0	0	0	1	0	0	13762	835	29	2		2	RP11-766F14.2	4	99653946	Nonsense_Mutation	SNP	C	C3N-00704_TP	2094836	99653946	90560609	175	20672											
PPP3CA	0	.	GRCh38	chr4	101040487	101040487	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacgaatgcacccacctgagCactgagaacactctggccat	12	7	8	14	1	1	2	0	2	1	1	1	4	1	2	3	1	4	2	3	1	3	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1236G>T	p.=	p.V412V	ENST00000394854	11/14	132	107	25	149	149	0	strelka-varscan	PPP3CA,synonymous_variant,p.=,ENST00000394854,NM_000944.4;PPP3CA,synonymous_variant,p.=,ENST00000323055,NM_001130692.1;PPP3CA,synonymous_variant,p.=,ENST00000512215,;PPP3CA,synonymous_variant,p.=,ENST00000394853,NM_001130691.1;PPP3CA,synonymous_variant,p.=,ENST00000507176,;	A	ENST00000394854	Transcript	synonymous_variant	1920/4685	1236/1566	412/521	V	gtG/gtT		1		-1	PPP3CA	HGNC	HGNC:9314	protein_coding	YES	CCDS34037.1	ENSP00000378323	Q08209	A0A0S2Z4C6	UPI0000110660	NM_000944.4			11/14		hmmpanther:PTHR11668:SF261,hmmpanther:PTHR11668,Superfamily_domains:SSF56300																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	63	101040487	101040487	C	A	1	0	0	0	0	0	0	0	1	12519	724	25	2		2	PPP3CA	4	101040487	Silent	SNP	C	C3N-00704_TP	1386541	101040487	89174068	176	20673											
SEC24B	0	.	GRCh38	chr4	109463160	109463160	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catattgtgggatccactctAggatctttccaaggtgctgc	8	13	10	10	0	2	0	0	0	2	0	4	2	4	2	2	3	2	1	2	3	3	4	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.486A>T	p.=	p.L162L	ENST00000504968	3/25	209	167	42	274	274	0	strelka-varscan	SEC24B,synonymous_variant,p.=,ENST00000265175,NM_001318085.1,NM_006323.3;SEC24B,synonymous_variant,p.=,ENST00000504968,NM_001300813.1;SEC24B,synonymous_variant,p.=,ENST00000399100,NM_001042734.2;	T	ENST00000504968	Transcript	synonymous_variant	584/4066	486/3897	162/1298	L	ctA/ctT		1		1	SEC24B	HGNC	HGNC:10704	protein_coding	YES	CCDS75179.1	ENSP00000428564	O95487		UPI000189A7A7	NM_001300813.1			3/25		hmmpanther:PTHR13803:SF7,hmmpanther:PTHR13803																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	63	109463160	109463160	A	T	1	0	0	0	0	0	0	0	1	14272	407	15	4		4	SEC24B	4	109463160	Silent	SNP	A	C3N-00704_TP	8422673	109463160	80751395	177	20674											
ZGRF1	0	.	GRCh38	chr4	112548303	112548303	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatctgactacactcatcCagcacaactacaggaaattt	14	11	5	11	0	2	1	1	1	1	0	3	2	3	2	1	1	4	2	1	1	5	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.5424G>T	p.=	p.L1808L	ENST00000505019	23/28	172	153	19	218	218	0	strelka-varscan	ZGRF1,synonymous_variant,p.=,ENST00000505019,NM_018392.4;ZGRF1,synonymous_variant,p.=,ENST00000445203,;ZGRF1,intron_variant,,ENST00000612287,;RP11-402J6.1,downstream_gene_variant,,ENST00000504009,;ZGRF1,non_coding_transcript_exon_variant,,ENST00000506675,;ZGRF1,intron_variant,,ENST00000445413,;	A	ENST00000505019	Transcript	synonymous_variant	5550/6652	5424/6315	1808/2104	L	ctG/ctT		1		-1	ZGRF1	HGNC	HGNC:25654	protein_coding	YES	CCDS3700.2	ENSP00000424737	Q86YA3		UPI0000EE2F8F	NM_018392.4			23/28		Gene3D:3.40.50.300,Pfam_domain:PF13086,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF325,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	63	112548303	112548303	C	A	1	0	0	0	0	0	0	0	1	18253	581	21	2		2	ZGRF1	4	112548303	Silent	SNP	C	C3N-00704_TP	3085143	112548303	77666252	178	20675											
ANK2	0	.	GRCh38	chr4	113278523	113278523	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaggtggcgctgctgttaCtggagaagggtgcttcccct	7	10	15	9	1	0	2	0	0	0	2	1	3	1	2	2	4	3	4	2	4	3	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1846C>G	p.Leu616Val	p.L616V	ENST00000357077	17/46	432	368	64	399	398	1	strelka-varscan	ANK2,missense_variant,p.Leu616Val,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Leu616Val,ENST00000264366,;ANK2,missense_variant,p.Leu595Val,ENST00000506722,NM_001127493.1;ANK2,missense_variant,p.Leu616Val,ENST00000394537,NM_020977.3;ANK2,missense_variant,p.Leu631Val,ENST00000504454,;ANK2,missense_variant,p.Leu588Val,ENST00000634436,;ANK2,missense_variant,p.Leu595Val,ENST00000503271,;ANK2,intron_variant,,ENST00000503423,;	G	ENST00000357077	Transcript	missense_variant	1899/14196	1846/11874	616/3957	L/V	Ctg/Gtg		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	deleterious(0.03)		17/46		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	63	113278523	113278523	C	G	1	0	0	0	0	1	0	0	0	721	564	20	4		4	ANK2	4	113278523	Missense_Mutation	SNP	C	C3N-00704_TP	730220	113278523	76936032	179	20676											
ANK2	0	.	GRCh38	chr4	113278535	113278535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttactggagaagggtGcttcccctcatgccactgcc	6	11	11	13	0	1	1	1	0	0	1	2	2	2	1	4	2	5	3	4	2	2	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1858G>T	p.Ala620Ser	p.A620S	ENST00000357077	17/46	408	352	56	387	387	0	strelka-varscan	ANK2,missense_variant,p.Ala620Ser,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Ala620Ser,ENST00000264366,;ANK2,missense_variant,p.Ala599Ser,ENST00000506722,NM_001127493.1;ANK2,missense_variant,p.Ala620Ser,ENST00000394537,NM_020977.3;ANK2,missense_variant,p.Ala635Ser,ENST00000504454,;ANK2,missense_variant,p.Ala592Ser,ENST00000634436,;ANK2,missense_variant,p.Ala599Ser,ENST00000503271,;ANK2,intron_variant,,ENST00000503423,;	T	ENST00000357077	Transcript	missense_variant	1911/14196	1858/11874	620/3957	A/S	Gct/Tct		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	deleterious(0.02)		17/46		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	113278535	113278535	G	T	1	0	0	0	0	1	0	0	0	721	1319	46	2		2	ANK2	4	113278535	Missense_Mutation	SNP	G	C3N-00704_TP	12	113278535	76936020	180	20677											
ANK2	0	.	GRCh38	chr4	113356135	113356135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacggaagtggcctctgtgcGgtcccggctactccgagacc	6	7	14	14	4	1	1	0	0	1	1	3	4	3	2	4	4	2	1	4	4	2	1	rs780131495		C3N-00704_TP	C3N-00704_NB	G	G																c.7517G>T	p.Arg2506Leu	p.R2506L	ENST00000357077	38/46	224	181	43	295	295	0	strelka-varscan	ANK2,missense_variant,p.Arg2506Leu,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Arg2473Leu,ENST00000264366,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000612754,;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;	T	ENST00000357077	Transcript	missense_variant	7570/14196	7517/11874	2506/3957	R/L	cGg/cTg	rs780131495	1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	deleterious_low_confidence(0.02)		38/46		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	113356135	113356135	G	T	1	0	0	0	0	1	0	0	0	721	1116	39	1		1	ANK2	4	113356135	Missense_Mutation	SNP	G	C3N-00704_TP	77600	113356135	76858420	181	20678											
NDST3	0	.	GRCh38	chr4	118224493	118224493	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatttgcttttttcagatCagcattttcatgacccattt	8	20	4	9	0	4	2	4	1	0	1	4	2	4	2	1	0	2	2	1	0	0	8	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1542C>G	p.Ile514Met	p.I514M	ENST00000296499	7/14	71	51	20	77	77	0	strelka-varscan	NDST3,missense_variant,p.Ile514Met,ENST00000296499,NM_004784.2;	G	ENST00000296499	Transcript	missense_variant,splice_region_variant	1945/5961	1542/2622	514/873	I/M	atC/atG		1		1	NDST3	HGNC	HGNC:7682	protein_coding	YES	CCDS3708.1	ENSP00000296499	O95803		UPI0000071C44	NM_004784.2	deleterious(0.03)		7/14		hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF29																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	63	118224493	118224493	C	G	1	0	0	0	0	1	0	0	0	10278	840	29	4		4	NDST3	4	118224493	Missense_Mutation	SNP	C	C3N-00704_TP	4868358	118224493	71990062	182	20679											
DCLK2	0	.	GRCh38	chr4	150102493	150102493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggtgagagttacgtgtGtgcatccaatgaaccatttc	10	14	10	7	1	0	2	0	2	0	1	2	3	1	2	2	1	3	2	2	1	4	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.437G>T	p.Cys146Phe	p.C146F	ENST00000302176	2/17	121	102	19	154	154	0	strelka-varscan	DCLK2,missense_variant,p.Cys146Phe,ENST00000296550,NM_001040260.3;DCLK2,missense_variant,p.Cys146Phe,ENST00000302176,NM_001040261.4;DCLK2,missense_variant,p.Cys146Phe,ENST00000506325,;DCLK2,missense_variant,p.Cys146Phe,ENST00000635524,;DCLK2,missense_variant,p.Cys146Phe,ENST00000411937,;	T	ENST00000302176	Transcript	missense_variant	437/3543	437/2352	146/783	C/F	tGt/tTt		1		1	DCLK2	HGNC	HGNC:19002	protein_coding	YES	CCDS47142.2	ENSP00000303887	Q8N568		UPI0000D615C9	NM_001040261.4	deleterious(0)		2/17		PROSITE_profiles:PS50309,hmmpanther:PTHR24347:SF122,hmmpanther:PTHR24347,Pfam_domain:PF03607,Gene3D:1mfwA00,SMART_domains:SM00537,Superfamily_domains:SSF89837																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	150102493	150102493	G	T	1	0	0	0	0	1	0	0	0	4094	1377	48	2		2	DCLK2	4	150102493	Missense_Mutation	SNP	G	C3N-00704_TP	31878000	150102493	40112062	183	20680											
FHDC1	0	.	GRCh38	chr4	152975789	152975789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccccctggggaggctcCtgcccccgtctctgtggata	4	8	12	17	1	1	0	0	0	1	0	3	2	2	2	6	4	2	1	6	4	1	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2498C>T	p.Pro833Leu	p.P833L	ENST00000511601	12/12	16	12	4	33	33	0	strelka-varscan	FHDC1,missense_variant,p.Pro833Leu,ENST00000511601,;FHDC1,missense_variant,p.Pro833Leu,ENST00000260008,NM_033393.2;	T	ENST00000511601	Transcript	missense_variant	2686/6583	2498/3432	833/1143	P/L	cCt/cTt		1		1	FHDC1	HGNC	HGNC:29363	protein_coding	YES	CCDS34081.1	ENSP00000427567	Q9C0D6		UPI00001D7673		deleterious(0.05)		12/12																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	152975789	152975789	C	T	1	0	0	0	0	1	0	0	0	5741	681	24	3		3	FHDC1	4	152975789	Missense_Mutation	SNP	C	C3N-00704_TP	2873296	152975789	37238766	184	20681											
GRIA2	0	.	GRCh38	chr4	157335725	157335725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcttgaaggcaatgagCgctatgagggctactgtgtt	11	11	13	6	1	0	3	0	3	0	0	0	3	0	3	0	2	3	5	0	2	5	4	rs761885028		C3N-00704_TP	C3N-00704_NB	C	C																c.1321C>A	p.Arg441Ser	p.R441S	ENST00000296526	10/16	334	278	56	317	316	1	strelka-varscan	GRIA2,missense_variant,p.Arg441Ser,ENST00000296526,NM_000826.3;GRIA2,missense_variant,p.Arg394Ser,ENST00000393815,NM_001083620.1;GRIA2,missense_variant,p.Arg441Ser,ENST00000264426,NM_001083619.1;GRIA2,missense_variant,p.Arg394Ser,ENST00000507898,;GRIA2,missense_variant,p.Arg394Ser,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	A	ENST00000296526	Transcript	missense_variant	1646/5621	1321/2652	441/883	R/S	Cgc/Agc	rs761885028,COSM1428249,COSM1428250	1		1	GRIA2	HGNC	HGNC:4572	protein_coding	YES	CCDS3797.1	ENSP00000296526	P42262		UPI000002AA8D	NM_000826.3	tolerated(0.09)		10/16		Gene3D:3.40.190.10,Pfam_domain:PF10613,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF206,SMART_domains:SM00079,SMART_domains:SM00918,Superfamily_domains:SSF53850											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		.	.												A	3	1	63	157335725	157335725	C	A	1	0	0	0	0	1	0	0	0	6648	768	27	1		1	GRIA2	4	157335725	Missense_Mutation	SNP	C	C3N-00704_TP	4359936	157335725	32878830	185	20682											
TLL1	0	.	GRCh38	chr4	166055165	166055165	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatagggcgtttctgtggTtatgacaaacctgaagacat	11	13	11	6	1	1	4	0	3	1	1	1	4	1	4	1	2	1	2	1	2	4	4	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1614T>A	p.=	p.G538G	ENST00000061240	13/21	121	103	18	159	159	0	strelka-varscan	TLL1,synonymous_variant,p.=,ENST00000061240,NM_012464.4;TLL1,synonymous_variant,p.=,ENST00000507499,;RNA5SP170,upstream_gene_variant,,ENST00000517150,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	A	ENST00000061240	Transcript	synonymous_variant	2261/6708	1614/3042	538/1013	G	ggT/ggA		1		1	TLL1	HGNC	HGNC:11843	protein_coding	YES	CCDS3811.1	ENSP00000061240	O43897		UPI0000072EED	NM_012464.4			13/21		Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001199,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,SMART_domains:SM00042,Superfamily_domains:SSF49854																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	63	166055165	166055165	T	A	1	0	0	0	0	0	0	0	1	16391	1712	60	4		4	TLL1	4	166055165	Silent	SNP	T	C3N-00704_TP	8719440	166055165	24159390	186	20683											
DDX60	0	.	GRCh38	chr4	168248249	168248249	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaccacagatttacaaGgcatgttgacacctaaagca	18	7	6	10	0	0	2	0	1	0	1	0	2	0	2	2	1	3	3	2	1	6	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.3902C>G	p.Pro1301Arg	p.P1301R	ENST00000393743	29/38	101	87	14	121	121	0	strelka-varscan	DDX60,missense_variant,p.Pro1301Arg,ENST00000393743,NM_017631.5;DDX60,downstream_gene_variant,,ENST00000505393,;	C	ENST00000393743	Transcript	missense_variant	4194/6071	3902/5139	1301/1712	P/R	cCt/cGt		1		-1	DDX60	HGNC	HGNC:25942	protein_coding	YES	CCDS34097.1	ENSP00000377344	Q8IY21		UPI000020B6AB	NM_017631.5	deleterious(0)		29/38		PROSITE_profiles:PS51194,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	63	168248249	168248249	G	C	1	0	0	0	0	1	0	0	0	4181	1000	35	4		4	DDX60	4	168248249	Missense_Mutation	SNP	G	C3N-00704_TP	2193084	168248249	21966306	187	20684											
CEP44	0	.	GRCh38	chr4	174310051	174310051	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacagaaatgcttttgtctAaaaaggtattttcctccttt	13	16	5	7	0	1	1	0	0	1	1	3	1	3	1	2	1	2	2	2	1	6	7	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.880A>G	p.Lys294Glu	p.K294E	ENST00000457424	8/11	66	56	10	157	157	0	strelka-varscan	CEP44,missense_variant,p.Lys294Glu,ENST00000503780,NM_001040157.2;CEP44,missense_variant,p.Lys294Glu,ENST00000296519,;CEP44,missense_variant,p.Lys294Glu,ENST00000457424,NM_001145314.1;CEP44,missense_variant,p.Lys294Glu,ENST00000426172,;CEP44,downstream_gene_variant,,ENST00000515299,;CEP44,missense_variant,p.Lys294Glu,ENST00000396791,;CEP44,non_coding_transcript_exon_variant,,ENST00000508483,;	G	ENST00000457424	Transcript	missense_variant	1185/3290	880/1200	294/399	K/E	Aaa/Gaa		1		1	CEP44	HGNC	HGNC:29356	protein_coding	YES	CCDS47163.1	ENSP00000389427	Q9C0F1		UPI000014031D	NM_001145314.1	deleterious(0)		8/11		hmmpanther:PTHR31477:SF1,hmmpanther:PTHR31477																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	63	174310051	174310051	A	G	1	0	0	0	0	1	0	0	0	2974	376	13	5		5	CEP44	4	174310051	Missense_Mutation	SNP	A	C3N-00704_TP	6061802	174310051	15904504	188	20685											
ADAM29	0	.	GRCh38	chr4	174977477	174977477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caattatctgtgggaccctcCcaactgcctgataaaaggct	11	10	8	12	0	1	1	0	1	1	0	2	2	2	2	3	2	2	1	3	2	5	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1952C>A	p.Pro651His	p.P651H	ENST00000615367	6/6	132	100	32	167	167	0	strelka-varscan	ADAM29,missense_variant,p.Pro651His,ENST00000615367,NM_001278125.1;ADAM29,missense_variant,p.Pro651His,ENST00000359240,NM_014269.4,NM_001278126.1;ADAM29,missense_variant,p.Pro651His,ENST00000445694,NM_001130703.1;ADAM29,missense_variant,p.Pro651His,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Pro651His,ENST00000514159,NM_001130705.1;ADAM29,missense_variant,p.Pro651His,ENST00000618444,NM_001278127.1;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000505141,;ADAM29,downstream_gene_variant,,ENST00000502940,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	A	ENST00000615367	Transcript	missense_variant	2683/3386	1952/2463	651/820	P/H	cCc/cAc		1		1	ADAM29	HGNC	HGNC:207	protein_coding	YES	CCDS3823.1	ENSP00000484862	Q9UKF5	A0A140VJD8	UPI000013E9DE	NM_001278125.1	deleterious(0)		6/6		hmmpanther:PTHR11905:SF34,hmmpanther:PTHR11905																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	63	174977477	174977477	C	A	1	0	0	0	0	1	0	0	0	291	623	22	2		2	ADAM29	4	174977477	Missense_Mutation	SNP	C	C3N-00704_TP	667426	174977477	15237078	189	20686											
FAT1	0	.	GRCh38	chr4	186598094	186598094	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttatctcacagtgggtcccTatgtacaaggcactgcattt	9	13	8	11	0	1	0	1	0	1	0	3	0	2	0	1	2	2	3	1	2	4	4	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.12135A>T	p.=	p.I4045I	ENST00000441802	23/27	181	129	52	163	163	0	strelka-varscan	FAT1,synonymous_variant,p.=,ENST00000441802,NM_005245.3;FAT1,synonymous_variant,p.=,ENST00000614102,;FAT1,upstream_gene_variant,,ENST00000512772,;FAT1,upstream_gene_variant,,ENST00000507105,;FAT1,upstream_gene_variant,,ENST00000509927,;FAT1,non_coding_transcript_exon_variant,,ENST00000512347,;FAT1,non_coding_transcript_exon_variant,,ENST00000507662,;FAT1,upstream_gene_variant,,ENST00000500085,;FAT1,upstream_gene_variant,,ENST00000509537,;FAT1,downstream_gene_variant,,ENST00000503253,;	A	ENST00000441802	Transcript	synonymous_variant	12345/14786	12135/13767	4045/4588	I	atA/atT		1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3			23/27		Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_patterns:PS00022,PROSITE_profiles:PS50026,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	63	186598094	186598094	T	A	1	0	0	0	0	0	0	0	1	5549	1512	53	4		4	FAT1	4	186598094	Silent	SNP	T	C3N-00704_TP	11620617	186598094	3616461	190	20687											
CLPTM1L	0	.	GRCh38	chr5	1318422	1318422	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtaggactccccaaactCgttcactctgcgtttatcca	8	12	6	15	3	2	0	1	0	1	0	6	1	4	1	3	1	2	3	3	1	3	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1564G>T	p.Glu522Ter	p.E522*	ENST00000320895	17/17	330	299	31	267	267	0	strelka-varscan-mutect	CLPTM1L,stop_gained,p.Glu522Ter,ENST00000320895,NM_030782.3;CLPTM1L,stop_gained,p.Glu353Ter,ENST00000630539,;CLPTM1L,stop_gained,p.Glu353Ter,ENST00000507807,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000506641,;CLPTM1L,downstream_gene_variant,,ENST00000507195,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000503042,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000503534,;CLPTM1L,non_coding_transcript_exon_variant,,ENST00000515719,;CLPTM1L,downstream_gene_variant,,ENST00000511268,;CLPTM1L,downstream_gene_variant,,ENST00000503151,;CLPTM1L,downstream_gene_variant,,ENST00000505914,;CLPTM1L,downstream_gene_variant,,ENST00000505605,;CLPTM1L,downstream_gene_variant,,ENST00000512451,;	A	ENST00000320895	Transcript	stop_gained	1822/2500	1564/1617	522/538	E/*	Gag/Tag		1		-1	CLPTM1L	HGNC	HGNC:24308	protein_coding	YES	CCDS3862.1	ENSP00000313854	Q96KA5		UPI00000707DF	NM_030782.3			17/17		hmmpanther:PTHR21347:SF1,hmmpanther:PTHR21347																	HIGH	1	SNV	1			1										PASS		rs939527654	.												A	4	1	63	1318422	1318422	C	A	1	0	0	0	0	0	1	0	0	3327	893	31	1		1	CLPTM1L	5	1318422	Nonsense_Mutation	SNP	C	C3N-00704_TP		1318422	180219837	191	20688											
IRX1	0	.	GRCh38	chr5	3599984	3599984	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaccccggcgcgcacgggCcctccgccggggcgccgctg	2	2	16	21	8	0	0	0	0	0	0	1	0	1	0	7	4	0	2	7	4	0	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1036C>A	p.Pro346Thr	p.P346T	ENST00000302006	2/4	67	60	7	59	59	0	strelka-varscan-mutect	IRX1,missense_variant,p.Pro346Thr,ENST00000302006,NM_024337.3;CTD-2012M11.3,non_coding_transcript_exon_variant,,ENST00000559410,;	A	ENST00000302006	Transcript	missense_variant	1088/1858	1036/1443	346/480	P/T	Ccc/Acc		1		1	IRX1	HGNC	HGNC:14358	protein_coding	YES	CCDS34132.1	ENSP00000305244	P78414		UPI00001B6455	NM_024337.3	tolerated(0.14)		2/4		hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF13,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	3599984	3599984	C	A	1	0	0	0	0	1	0	0	0	7751	739	26	2		2	IRX1	5	3599984	Missense_Mutation	SNP	C	C3N-00704_TP	2281562	3599984	177938275	192	20689											
ADCY2	0	.	GRCh38	chr5	7706791	7706791	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaacatgcgcgtgggcgTgcattctgggaatgtcctgt	7	12	13	9	3	2	0	1	0	1	0	3	1	3	1	1	2	3	1	1	2	3	2			C3N-00704_TP	C3N-00704_NB	T	T																c.1157T>A	p.Val386Glu	p.V386E	ENST00000338316	8/25	329	290	39	304	304	0	strelka-varscan-mutect	ADCY2,missense_variant,p.Val386Glu,ENST00000338316,NM_020546.2;RP11-711G10.1,downstream_gene_variant,,ENST00000514105,;	A	ENST00000338316	Transcript	missense_variant	1246/6575	1157/3276	386/1091	V/E	gTg/gAg	COSM1647830,COSM739189	1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2	deleterious(0)		8/25		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,SMART_domains:SM00044,Superfamily_domains:SSF55073											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	63	7706791	7706791	T	A	1	0	0	0	0	1	0	0	0	338	1696	59	4		4	ADCY2	5	7706791	Missense_Mutation	SNP	T	C3N-00704_TP	4106807	7706791	173831468	193	20690											
ANKRD33B	0	.	GRCh38	chr5	10650046	10650046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagaggaaggcagaggaggCcgaaaagaagcgccaggccg	15	0	18	8	3	0	3	0	0	0	3	0	7	0	5	3	5	1	1	3	5	5	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1418C>A	p.Ala473Asp	p.A473D	ENST00000296657	4/4	177	110	67	143	143	0	strelka-varscan-mutect	ANKRD33B,missense_variant,p.Ala473Asp,ENST00000296657,NM_001164440.1;ANKRD33B,downstream_gene_variant,,ENST00000504806,;RP11-54F2.1,downstream_gene_variant,,ENST00000508690,;	A	ENST00000296657	Transcript	missense_variant	1418/9188	1418/1485	473/494	A/D	gCc/gAc		1		1	ANKRD33B	HGNC	HGNC:35240	protein_coding	YES	CCDS47191.1	ENSP00000296657	A6NCL7		UPI00001D7EE7	NM_001164440.1	tolerated(0.26)		4/4		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	63	10650046	10650046	C	A	1	0	0	0	0	1	0	0	0	766	739	26	2		2	ANKRD33B	5	10650046	Missense_Mutation	SNP	C	C3N-00704_TP	2943255	10650046	170888213	194	20691											
CTNND2	0	.	GRCh38	chr5	10973518	10973518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcagttcactgtagggacGggcagctgagtagaagtcaa	11	9	14	7	1	3	2	3	1	0	1	3	3	3	3	0	2	1	6	0	2	4	4	rs377404994		C3N-00704_TP	C3N-00704_NB	G	G																c.3613C>A	p.Arg1205Ser	p.R1205S	ENST00000304623	22/22	120	104	16	112	112	0	strelka-varscan-mutect	CTNND2,missense_variant,p.Arg1205Ser,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Arg1114Ser,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.Arg868Ser,ENST00000503622,NM_001288716.1;CTNND2,missense_variant,p.Arg300Ser,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,downstream_gene_variant,,ENST00000506324,;CTNND2,3_prime_UTR_variant,,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	T	ENST00000304623	Transcript	missense_variant	3803/5481	3613/3678	1205/1225	R/S	Cgt/Agt	rs377404994	1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	deleterious(0)		22/22		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9																	MODERATE	1	SNV	1			1										PASS		rs377404994	.												T	3	4	63	10973518	10973518	G	T	1	0	0	0	0	1	0	0	0	3829	1116	39	1		1	CTNND2	5	10973518	Missense_Mutation	SNP	G	C3N-00704_TP	323472	10973518	170564741	195	20692											
PRDM9	0	.	GRCh38	chr5	23527256	23527256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagccctatgtctgcaGggagtgtgggcggggcttta	7	9	18	7	1	1	1	0	0	1	1	1	3	1	2	1	5	2	2	1	5	3	3	rs368347213		C3N-00704_TP	C3N-00704_NB	G	G																c.2168G>T	p.Arg723Met	p.R723M	ENST00000296682	11/11	330	293	37	296	296	0	varscan-mutect	PRDM9,missense_variant,p.Arg723Met,ENST00000296682,NM_020227.2;PRDM9,downstream_gene_variant,,ENST00000635252,;	T	ENST00000296682	Transcript	missense_variant	2350/3691	2168/2685	723/894	R/M	aGg/aTg	rs368347213	1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	tolerated(0.08)		11/11		PROSITE_profiles:PS50157,hmmpanther:PTHR16515:SF10,hmmpanther:PTHR16515,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs368347213	.												T	3	4	63	23527256	23527256	G	T	1	0	0	0	0	1	0	0	0	12595	1000	35	2		2	PRDM9	5	23527256	Missense_Mutation	SNP	G	C3N-00704_TP	12553738	23527256	158011003	196	20693											
CDH9	0	.	GRCh38	chr5	26885808	26885808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaaaatcggcaataagtagGtgctcattttgttgcgactg	11	14	10	6	2	1	0	1	0	0	0	2	1	1	0	0	2	2	4	0	2	5	6	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1688C>A	p.Thr563Asn	p.T563N	ENST00000231021	11/12	315	260	55	340	340	0	strelka-varscan-mutect	CDH9,missense_variant,p.Thr563Asn,ENST00000231021,NM_016279.3;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	T	ENST00000231021	Transcript	missense_variant	1861/3079	1688/2370	563/789	T/N	aCc/aAc		1		-1	CDH9	HGNC	HGNC:1768	protein_coding	YES	CCDS3893.1	ENSP00000231021	Q9ULB4		UPI000013C945	NM_016279.3	deleterious(0.02)		11/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF99,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	26885808	26885808	G	T	1	0	0	0	0	1	0	0	0	2820	1261	44	2		2	CDH9	5	26885808	Missense_Mutation	SNP	G	C3N-00704_TP	3358552	26885808	154652451	197	20694											
CAPSL	0	.	GRCh38	chr5	35921019	35921019	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccagcagagcccctggcCaggcactgcagtcggagtct	8	6	12	15	1	1	1	0	0	1	1	3	2	2	2	4	3	3	3	4	3	0	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.102G>T	p.=	p.L34L	ENST00000397367	2/5	242	163	79	226	225	1	strelka-varscan-mutect	CAPSL,synonymous_variant,p.=,ENST00000397367,NM_144647.3;CAPSL,synonymous_variant,p.=,ENST00000397366,NM_001042625.1;CAPSL,synonymous_variant,p.=,ENST00000513623,;CAPSL,synonymous_variant,p.=,ENST00000514524,;	A	ENST00000397367	Transcript	synonymous_variant	229/1004	102/627	34/208	L	ctG/ctT		1		-1	CAPSL	HGNC	HGNC:28375	protein_coding	YES	CCDS3912.2	ENSP00000380524	Q8WWF8		UPI0000149B20	NM_144647.3			2/5		hmmpanther:PTHR10891,hmmpanther:PTHR10891:SF551																	LOW	1	SNV	1			1										PASS		rs878903625	.												A	2	1	63	35921019	35921019	C	A	1	0	0	0	0	0	0	0	1	2334	581	21	2		2	CAPSL	5	35921019	Silent	SNP	C	C3N-00704_TP	9035211	35921019	145617240	198	20695											
FYB	0	.	GRCh38	chr5	39202601	39202601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggaatcttctttgggCaagttgatgggcttggggcc	5	14	16	6	0	2	1	0	1	2	0	2	2	2	2	1	6	0	4	1	6	2	5	rs766831131		C3N-00704_TP	C3N-00704_NB	C	C																c.390G>T	p.Leu130Phe	p.L130F	ENST00000512982	2/19	489	331	158	420	418	2	strelka-varscan-mutect	FYB,missense_variant,p.Leu120Phe,ENST00000351578,NM_199335.3;FYB,missense_variant,p.Leu120Phe,ENST00000505428,NM_001465.4;FYB,missense_variant,p.Leu130Phe,ENST00000512982,NM_001243093.1;FYB,missense_variant,p.Leu120Phe,ENST00000515010,;FYB,missense_variant,p.Leu120Phe,ENST00000510188,;FYB,downstream_gene_variant,,ENST00000506557,;FYB,downstream_gene_variant,,ENST00000504542,;FYB,downstream_gene_variant,,ENST00000509072,;FYB,downstream_gene_variant,,ENST00000512138,;	A	ENST00000512982	Transcript	missense_variant	476/2747	390/2520	130/839	L/F	ttG/ttT	rs766831131	1		-1	FYB	HGNC	HGNC:4036	protein_coding	YES	CCDS58945.1	ENSP00000425845	O15117		UPI00017A75FB	NM_001243093.1	tolerated(0.66)		2/19		hmmpanther:PTHR16830,hmmpanther:PTHR16830:SF13																	MODERATE	1	SNV	2			1										PASS		rs766831131	.												A	3	1	63	39202601	39202601	C	A	1	0	0	0	0	1	0	0	0	5995	709	25	2		2	FYB	5	39202601	Missense_Mutation	SNP	C	C3N-00704_TP	3281582	39202601	142335658	199	20696											
C9	0	.	GRCh38	chr5	39306741	39306741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcatattttctggttccaCctcttatgagtgaaacaaca	12	14	6	9	0	2	2	0	2	2	0	3	2	3	2	2	1	3	2	2	1	4	5	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1292G>T	p.Gly431Val	p.G431V	ENST00000263408	9/11	231	206	25	331	331	0	strelka-varscan-mutect	C9,missense_variant,p.Gly431Val,ENST00000263408,NM_001737.3;	A	ENST00000263408	Transcript	missense_variant	1388/2713	1292/1680	431/559	G/V	gGt/gTt		1		-1	C9	HGNC	HGNC:1358	protein_coding	YES	CCDS3929.1	ENSP00000263408	P02748		UPI0000001065	NM_001737.3	deleterious(0)		9/11		PROSITE_profiles:PS51412,hmmpanther:PTHR19325:SF362,hmmpanther:PTHR19325,Pfam_domain:PF01823,SMART_domains:SM00457																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	39306741	39306741	C	A	1	0	0	0	0	1	0	0	0	2169	507	18	2		2	C9	5	39306741	Missense_Mutation	SNP	C	C3N-00704_TP	104140	39306741	142231518	200	20697											
C9	0	.	GRCh38	chr5	39331680	39331680	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccgaggagacttacttcaTagatcaaagaagccacgttc	13	9	8	11	2	2	3	2	0	0	3	4	5	3	3	2	1	2	1	2	1	4	4	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.611A>T	p.Tyr204Phe	p.Y204F	ENST00000263408	5/11	591	422	169	582	582	0	strelka-varscan-mutect	C9,missense_variant,p.Tyr204Phe,ENST00000263408,NM_001737.3;C9,non_coding_transcript_exon_variant,,ENST00000509186,;C9,downstream_gene_variant,,ENST00000483232,;	A	ENST00000263408	Transcript	missense_variant	707/2713	611/1680	204/559	Y/F	tAt/tTt		1		-1	C9	HGNC	HGNC:1358	protein_coding	YES	CCDS3929.1	ENSP00000263408	P02748		UPI0000001065	NM_001737.3	tolerated(0.15)		5/11		PROSITE_profiles:PS51412,hmmpanther:PTHR19325:SF362,hmmpanther:PTHR19325																	MODERATE	1	SNV	1			1										PASS		rs1348472463	.												A	3	1	63	39331680	39331680	T	A	1	0	0	0	0	1	0	0	0	2169	1420	49	4		4	C9	5	39331680	Missense_Mutation	SNP	T	C3N-00704_TP	24939	39331680	142206579	201	20698											
C6	0	.	GRCh38	chr5	41176514	41176514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgctaaactgatagagaaGgtcatacacgcctcccaggg	13	7	10	11	1	1	2	1	1	0	1	2	3	2	2	2	2	3	1	2	2	5	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1129C>G	p.Leu377Val	p.L377V	ENST00000263413	8/18	242	166	76	235	235	0	strelka-varscan-mutect	C6,missense_variant,p.Leu377Val,ENST00000263413,NM_001115131.2;C6,missense_variant,p.Leu377Val,ENST00000337836,NM_000065.3;C6,non_coding_transcript_exon_variant,,ENST00000475349,;C6,upstream_gene_variant,,ENST00000473450,;	C	ENST00000263413	Transcript	missense_variant	1394/3661	1129/2805	377/934	L/V	Ctt/Gtt		1		-1	C6	HGNC	HGNC:1339	protein_coding	YES	CCDS3936.1	ENSP00000263413	P13671		UPI000013D401	NM_001115131.2	tolerated(0.08)		8/18		PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,Pfam_domain:PF01823,SMART_domains:SM00457																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	63	41176514	41176514	G	C	1	0	0	0	0	1	0	0	0	2111	1000	35	4		4	C6	5	41176514	Missense_Mutation	SNP	G	C3N-00704_TP	1844834	41176514	140361745	202	20699											
PLCXD3	0	.	GRCh38	chr5	41382004	41382004	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcccagggtgctggcaTcatctgcccaggccagagaa	8	7	14	12	0	2	1	1	0	1	1	2	2	2	1	3	4	2	3	3	4	1	1	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.634A>T	p.Met212Leu	p.M212L	ENST00000377801	2/3	239	214	25	182	182	0	strelka-varscan-mutect	PLCXD3,missense_variant,p.Met212Leu,ENST00000377801,;PLCXD3,missense_variant,p.Met212Leu,ENST00000328457,NM_001005473.2;	A	ENST00000377801	Transcript	missense_variant	709/7704	634/966	212/321	M/L	Atg/Ttg		1		-1	PLCXD3	HGNC	HGNC:31822	protein_coding	YES	CCDS34150.1	ENSP00000367032	Q63HM9		UPI0000049DBB		deleterious(0.04)		2/3		Gene3D:3.20.20.190,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33,Superfamily_domains:SSF51695																	MODERATE	1	SNV	2			1										PASS		rs1423161865	.												A	3	1	63	41382004	41382004	T	A	1	0	0	0	0	1	0	0	0	12137	1435	50	4		4	PLCXD3	5	41382004	Missense_Mutation	SNP	T	C3N-00704_TP	205490	41382004	140156255	203	20700											
ARL15	0	.	GRCh38	chr5	54113359	54113359	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtctaatacaaatattaccCcttgagatccttggtagtag	12	14	7	8	0	1	1	0	1	1	1	2	2	2	1	3	1	2	2	3	1	7	8	rs375592157		C3N-00704_TP	C3N-00704_NB	C	C																c.305G>T	p.Gly102Val	p.G102V	ENST00000504924	4/5	244	203	41	318	318	0	strelka-varscan-mutect	ARL15,missense_variant,p.Gly102Val,ENST00000504924,NM_019087.2;ARL15,missense_variant,p.Gly102Val,ENST00000620747,;ARL15,missense_variant,p.Gly102Val,ENST00000507646,;ARL15,5_prime_UTR_variant,,ENST00000502271,;ARL15,non_coding_transcript_exon_variant,,ENST00000510591,;ARL15,non_coding_transcript_exon_variant,,ENST00000505630,;	A	ENST00000504924	Transcript	missense_variant	399/2486	305/615	102/204	G/V	gGg/gTg	rs375592157	1		-1	ARL15	HGNC	HGNC:25945	protein_coding	YES	CCDS54850.1	ENSP00000433427	Q9NXU5		UPI000006D66A	NM_019087.2	deleterious(0)		4/5		Gene3D:3.40.50.300,Pfam_domain:PF00025,Prints_domain:PR00328,PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF192,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs375592157	.												A	3	1	63	54113359	54113359	C	A	1	0	0	0	0	1	0	0	0	1070	623	22	2		2	ARL15	5	54113359	Missense_Mutation	SNP	C	C3N-00704_TP	12731355	54113359	127424900	204	20701											
MAP3K1	0	.	GRCh38	chr5	56882625	56882625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgaagcatctatgccttCaagtgatacaacagtaactt	13	13	6	9	0	3	2	1	2	2	0	3	2	3	2	1	0	5	2	1	0	6	6	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.3425C>T	p.Ser1142Leu	p.S1142L	ENST00000399503	14/20	204	178	26	267	267	0	strelka-varscan-mutect	MAP3K1,missense_variant,p.Ser1142Leu,ENST00000399503,NM_005921.1;MAP3K1,upstream_gene_variant,,ENST00000469188,;	T	ENST00000399503	Transcript	missense_variant	3425/7011	3425/4539	1142/1512	S/L	tCa/tTa		1		1	MAP3K1	HGNC	HGNC:6848	protein_coding	YES	CCDS43318.1	ENSP00000382423	Q13233		UPI000015153B	NM_005921.1	deleterious(0)		14/20																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	56882625	56882625	C	T	1	0	0	0	0	1	0	0	0	9165	838	29	3		3	MAP3K1	5	56882625	Missense_Mutation	SNP	C	C3N-00704_TP	2769266	56882625	124655634	205	20702											
LRRC70	0	.	GRCh38	chr5	62580150	62580150	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagactttctttgtctcatAatcctattgaagcaatacag	13	14	6	8	0	2	2	1	1	2	1	4	3	3	2	1	0	2	1	1	0	6	6	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.712A>T	p.Asn238Tyr	p.N238Y	ENST00000334994	2/2	203	178	25	371	371	0	strelka-varscan-mutect	LRRC70,missense_variant,p.Asn238Tyr,ENST00000334994,NM_181506.4;IPO11,intron_variant,,ENST00000325324,NM_016338.4;IPO11,intron_variant,,ENST00000409296,NM_001134779.1;IPO11,intron_variant,,ENST00000511713,;IPO11,intron_variant,,ENST00000409534,;LRRC70,intron_variant,,ENST00000491184,;LRRC70,intron_variant,,ENST00000448151,;IPO11,intron_variant,,ENST00000511133,;IPO11,intron_variant,,ENST00000424533,;IPO11,intron_variant,,ENST00000413749,;RP11-95I19.1,upstream_gene_variant,,ENST00000469402,;	T	ENST00000334994	Transcript	missense_variant	951/2249	712/1869	238/622	N/Y	Aat/Tat		1		1	LRRC70	HGNC	HGNC:35155	protein_coding	YES	CCDS47218.1	ENSP00000399441	Q7Z2Q7		UPI000004C632	NM_181506.4	deleterious(0)		2/2		PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF113,hmmpanther:PTHR24373,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,SMART_domains:SM00365,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	62580150	62580150	A	T	1	0	0	0	0	1	0	0	0	8917	362	13	4		4	LRRC70	5	62580150	Missense_Mutation	SNP	A	C3N-00704_TP	5697525	62580150	118958109	206	20703											
ENC1	0	.	GRCh38	chr5	74635952	74635952	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatcttcattcttcctgatGgtttggaagttgctgagaca	10	15	9	7	0	3	2	1	2	2	1	4	4	4	3	1	2	1	3	1	2	2	5	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.534C>T	p.=	p.T178T	ENST00000618628	3/4	247	205	42	283	283	0	strelka-varscan-mutect	ENC1,synonymous_variant,p.=,ENST00000618628,NM_001256574.1;ENC1,synonymous_variant,p.=,ENST00000302351,NM_003633.3,NM_001256575.1;ENC1,synonymous_variant,p.=,ENST00000510316,NM_001256576.1;ENC1,synonymous_variant,p.=,ENST00000537006,;HEXB,upstream_gene_variant,,ENST00000511181,NM_001292004.1;ENC1,downstream_gene_variant,,ENST00000508331,;ENC1,downstream_gene_variant,,ENST00000509127,;ENC1,upstream_gene_variant,,ENST00000509284,;	A	ENST00000618628	Transcript	synonymous_variant	1802/5657	534/1770	178/589	T	acC/acT		1		-1	ENC1	HGNC	HGNC:3345	protein_coding	YES	CCDS4021.1	ENSP00000479101	O14682	Q53XS2	UPI0000129EBB	NM_001256574.1			3/4		hmmpanther:PTHR24410:SF5,hmmpanther:PTHR24410,PIRSF_domain:PIRSF037037,Pfam_domain:PF07707,SMART_domains:SM00875																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	63	74635952	74635952	G	A	1	0	0	0	0	0	0	0	1	4955	1335	47	3		3	ENC1	5	74635952	Silent	SNP	G	C3N-00704_TP	12055802	74635952	106902307	207	20704											
F2R	0	.	GRCh38	chr5	76733464	76733464	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaatggatacctgctctagTaacctgaataacagcatata	17	10	6	8	0	1	1	0	1	1	0	1	2	1	2	2	1	5	3	2	1	9	6	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1239T>A	p.Ser413Arg	p.S413R	ENST00000319211	2/2	121	99	22	146	146	0	strelka-varscan-mutect	F2R,missense_variant,p.Ser413Arg,ENST00000319211,NM_001992.3;	A	ENST00000319211	Transcript	missense_variant	1504/3821	1239/1278	413/425	S/R	agT/agA		1		1	F2R	HGNC	HGNC:3537	protein_coding	YES	CCDS4032.1	ENSP00000321326	P25116	A0A024RAP7	UPI0000131312	NM_001992.3	deleterious(0)		2/2		hmmpanther:PTHR24232:SF20,hmmpanther:PTHR24232,Prints_domain:PR00908																	MODERATE	1	SNV	1			1										PASS		rs1355823262	.												A	3	1	63	76733464	76733464	T	A	1	0	0	0	0	1	0	0	0	5211	1635	57	4		4	F2R	5	76733464	Missense_Mutation	SNP	T	C3N-00704_TP	2097512	76733464	104804795	208	20705											
CHD1	0	.	GRCh38	chr5	98897277	98897277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtcctccaatataggatGgctgcttcttcagggctaca	9	12	9	11	0	2	0	1	0	1	0	4	1	4	1	2	3	2	3	2	3	4	5	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1409C>T	p.Pro470Leu	p.P470L	ENST00000614616	11/36	162	142	20	304	304	0	strelka-varscan-mutect	CHD1,missense_variant,p.Pro470Leu,ENST00000614616,;CHD1,missense_variant,p.Pro470Leu,ENST00000284049,NM_001270.2;	A	ENST00000614616	Transcript	missense_variant	1976/8095	1409/5133	470/1710	P/L	cCa/cTa		1		-1	CHD1	HGNC	HGNC:1915	protein_coding	YES	CCDS34204.1	ENSP00000483667	O14646		UPI000013DD75		deleterious(0.02)		11/36		hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	63	98897277	98897277	G	A	1	0	0	0	0	1	0	0	0	3082	1348	47	3		3	CHD1	5	98897277	Missense_Mutation	SNP	G	C3N-00704_TP	22163813	98897277	82640982	209	20706											
TSSK1B	0	.	GRCh38	chr5	113433783	113433783	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggggcccttcctctgTctccatagtcgacggcttgc	3	12	13	13	2	2	0	0	0	2	0	5	1	3	0	3	4	1	1	3	4	1	4	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1057A>T	p.Thr353Ser	p.T353S	ENST00000390666	1/1	94	81	13	106	106	0	strelka-varscan-mutect	TSSK1B,missense_variant,p.Thr353Ser,ENST00000390666,NM_032028.3;MCC,intron_variant,,ENST00000408903,NM_001085377.1;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000416046,;CTD-2201G3.1,upstream_gene_variant,,ENST00000510381,;	A	ENST00000390666	Transcript	missense_variant	1249/2478	1057/1104	353/367	T/S	Aca/Tca		1		-1	TSSK1B	HGNC	HGNC:14968	protein_coding	YES	CCDS4112.1	ENSP00000375081	Q9BXA7	A0ZT98	UPI000003C96E	NM_032028.3	tolerated_low_confidence(0.63)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR24343:SF76,hmmpanther:PTHR24343																	MODERATE		SNV				1										PASS		.	.												A	3	1	63	113433783	113433783	T	A	1	0	0	0	0	1	0	0	0	17176	1667	58	4		4	TSSK1B	5	113433783	Missense_Mutation	SNP	T	C3N-00704_TP	14536506	113433783	68104476	210	20707											
SEMA6A	0	.	GRCh38	chr5	116447392	116447392	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccactcgcggctgccgcGgctgggcttccgcttctgct	1	10	12	18	5	1	0	0	0	1	0	4	0	3	0	3	3	2	5	3	3	0	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2365C>A	p.Arg789Ser	p.R789S	ENST00000257414	20/20	188	161	27	222	222	0	strelka-varscan-mutect	SEMA6A,missense_variant,p.Arg772Ser,ENST00000343348,NM_020796.4;SEMA6A,missense_variant,p.Arg789Ser,ENST00000257414,NM_001300780.1;SEMA6A,missense_variant,p.Arg199Ser,ENST00000513137,;SEMA6A,missense_variant,p.Arg772Ser,ENST00000510263,;SEMA6A,missense_variant,p.Arg287Ser,ENST00000515129,;SEMA6A,missense_variant,p.Arg151Ser,ENST00000503865,;SEMA6A-AS1,upstream_gene_variant,,ENST00000508424,;SEMA6A-AS1,upstream_gene_variant,,ENST00000514214,;SEMA6A-AS1,upstream_gene_variant,,ENST00000508640,;SEMA6A-AS1,upstream_gene_variant,,ENST00000510682,;SEMA6A-AS1,upstream_gene_variant,,ENST00000512128,;SEMA6A,downstream_gene_variant,,ENST00000506114,;	T	ENST00000257414	Transcript	missense_variant	2614/4256	2365/3144	789/1047	R/S	Cgc/Agc		1		-1	SEMA6A	HGNC	HGNC:10738	protein_coding	YES	CCDS75288.1	ENSP00000257414		A0A0A0MQU6	UPI000018DB92	NM_001300780.1	tolerated(0.43)		20/20		hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	116447392	116447392	G	T	1	0	0	0	0	1	0	0	0	14315	1116	39	1		1	SEMA6A	5	116447392	Missense_Mutation	SNP	G	C3N-00704_TP	3013609	116447392	65090867	211	20708											
SEMA6A	0	.	GRCh38	chr5	116504874	116504874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaaatactgattggctcaGaatcttctgggaaaccagcc	12	9	10	10	1	3	2	1	1	2	1	3	4	3	3	2	2	3	1	2	2	4	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.71C>A	p.Ser24Tyr	p.S24Y	ENST00000257414	2/20	219	188	31	192	192	0	strelka-varscan-mutect	SEMA6A,missense_variant,p.Ser24Tyr,ENST00000343348,NM_020796.4;SEMA6A,missense_variant,p.Ser24Tyr,ENST00000257414,NM_001300780.1;SEMA6A,missense_variant,p.Ser24Tyr,ENST00000510263,;SEMA6A,missense_variant,p.Ser24Tyr,ENST00000515009,;SEMA6A,missense_variant,p.Ser24Tyr,ENST00000509665,;SEMA6A-AS1,intron_variant,,ENST00000510682,;SEMA6A,upstream_gene_variant,,ENST00000503962,;	T	ENST00000257414	Transcript	missense_variant	320/4256	71/3144	24/1047	S/Y	tCt/tAt		1		-1	SEMA6A	HGNC	HGNC:10738	protein_coding	YES	CCDS75288.1	ENSP00000257414		A0A0A0MQU6	UPI000018DB92	NM_001300780.1	tolerated(0.07)		2/20		PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF12																	MODERATE	1	SNV	1			1										PASS		rs1248369822	.												T	3	4	63	116504874	116504874	G	T	1	0	0	0	0	1	0	0	0	14315	942	33	2		2	SEMA6A	5	116504874	Missense_Mutation	SNP	G	C3N-00704_TP	57482	116504874	65033385	212	20709											
SEPT8	0	.	GRCh38	chr5	132765429	132765429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacacagaggatgttgaagCtgaagccctgagtgaccgac	12	6	12	11	1	0	5	0	4	0	1	0	7	0	6	3	1	2	2	3	1	2	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.131G>T	p.Ser44Ile	p.S44I	ENST00000378719	2/10	221	195	26	276	276	0	strelka-varscan-mutect	SEPT8,missense_variant,p.Ser44Ile,ENST00000296873,NM_001300799.1,NM_015146.1;SEPT8,missense_variant,p.Ser44Ile,ENST00000620483,;SEPT8,missense_variant,p.Ser44Ile,ENST00000378706,;SEPT8,missense_variant,p.Ser44Ile,ENST00000378719,NM_001098811.1;SEPT8,missense_variant,p.Ser44Ile,ENST00000378701,NM_001300798.1;SEPT8,missense_variant,p.Ser44Ile,ENST00000458488,NM_001098812.1;SEPT8,missense_variant,p.Ser44Ile,ENST00000378721,;SEPT8,5_prime_UTR_variant,,ENST00000448933,NM_001098813.1;SEPT8,5_prime_UTR_variant,,ENST00000378699,;SEPT8,5_prime_UTR_variant,,ENST00000453480,;SEPT8,5_prime_UTR_variant,,ENST00000414594,;SEPT8,5_prime_UTR_variant,,ENST00000371493,;SEPT8,non_coding_transcript_exon_variant,,ENST00000371478,;SEPT8,non_coding_transcript_exon_variant,,ENST00000492490,;SEPT8,upstream_gene_variant,,ENST00000481030,;SEPT8,non_coding_transcript_exon_variant,,ENST00000481794,;	A	ENST00000378719	Transcript	missense_variant	369/2889	131/1452	44/483	S/I	aGc/aTc		1		-1	SEPT8	HGNC	HGNC:16511	protein_coding	YES	CCDS43358.1	ENSP00000367991	Q92599		UPI00001C1E27	NM_001098811.1	tolerated(0.17)		2/10		Gene3D:3.40.50.300,Pfam_domain:PF00735,PIRSF_domain:PIRSF006698,PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF54,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	132765429	132765429	C	A	1	0	0	0	0	1	0	0	0	14346	797	28	2		2	SEPT8	5	132765429	Missense_Mutation	SNP	C	C3N-00704_TP	16260555	132765429	48772830	213	20710											
IK	0	.	GRCh38	chr5	140659066	140659066	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgtgaccgagagcgagagCgagaacgagatcgggaacga	14	2	16	9	7	0	5	0	1	0	4	1	11	0	6	2	1	4	0	2	1	2	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1078C>T	p.Arg360Ter	p.R360*	ENST00000417647	12/20	404	349	55	484	484	0	strelka-varscan-mutect	IK,stop_gained,p.Arg360Ter,ENST00000417647,NM_006083.3;IK,stop_gained,p.Arg45Ter,ENST00000610522,;IK,downstream_gene_variant,,ENST00000508301,;IK,downstream_gene_variant,,ENST00000502899,;IK,non_coding_transcript_exon_variant,,ENST00000515015,;IK,upstream_gene_variant,,ENST00000515592,;	T	ENST00000417647	Transcript	stop_gained	1217/1962	1078/1674	360/557	R/*	Cga/Tga		1		1	IK	HGNC	HGNC:5958	protein_coding	YES	CCDS47280.1	ENSP00000396301	Q13123		UPI0000378337	NM_006083.3			12/20		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12765:SF5,hmmpanther:PTHR12765																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	63	140659066	140659066	C	T	1	0	0	0	0	0	1	0	0	7516	760	27	1		1	IK	5	140659066	Nonsense_Mutation	SNP	C	C3N-00704_TP	7893637	140659066	40879193	214	20711											
PCDHA4	0	.	GRCh38	chr5	140808457	140808457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtgtcagcctatgagctgGtggtgaccgcgcgagacggg	6	7	18	10	5	1	3	1	2	0	1	1	4	1	3	2	3	2	1	2	3	1	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1270G>T	p.Val424Leu	p.V424L	ENST00000530339	1/4	480	385	95	643	643	0	strelka-varscan-mutect	PCDHA4,missense_variant,p.Val424Leu,ENST00000618834,NM_031500.2;PCDHA4,missense_variant,p.Val424Leu,ENST00000530339,NM_018907.3;PCDHA4,missense_variant,p.Val424Leu,ENST00000512229,;PCDHA4,missense_variant,p.Val423Leu,ENST00000378125,;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA3,downstream_gene_variant,,ENST00000532566,NM_031497.1;PCDHA2,downstream_gene_variant,,ENST00000520672,NM_031496.1;AC005609.16,intron_variant,,ENST00000624712,;	T	ENST00000530339	Transcript	missense_variant	1270/5251	1270/2844	424/947	V/L	Gtg/Ttg		1		1	PCDHA4	HGNC	HGNC:8670	protein_coding	YES	CCDS54916.1	ENSP00000435300	Q9UN74		UPI00001273CC	NM_018907.3	tolerated_low_confidence(0.1)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF82,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	140808457	140808457	G	T	1	0	0	0	0	1	0	0	0	11613	1261	44	2		2	PCDHA4	5	140808457	Missense_Mutation	SNP	G	C3N-00704_TP	149391	140808457	40729802	215	20712											
PCDHA7	0	.	GRCh38	chr5	140836643	140836643	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcattctcccagcagAggcggcagagggtgtgctct	6	9	15	11	1	3	2	1	0	2	2	4	2	3	2	1	4	2	4	1	4	0	1	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.2260A>T	p.Arg754Trp	p.R754W	ENST00000525929	1/4	141	116	25	164	164	0	strelka-varscan-mutect	PCDHA7,missense_variant,p.Arg754Trp,ENST00000525929,NM_018910.2;PCDHA7,missense_variant,p.Arg754Trp,ENST00000356878,NM_031852.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA8,upstream_gene_variant,,ENST00000531613,NM_018911.2;PCDHA8,upstream_gene_variant,,ENST00000378123,NM_031856.1;	T	ENST00000525929	Transcript	missense_variant	2260/5221	2260/2814	754/937	R/W	Agg/Tgg		1		1	PCDHA7	HGNC	HGNC:8673	protein_coding	YES	CCDS54918.1	ENSP00000436426	Q9UN72		UPI00001273CF	NM_018910.2	deleterious_low_confidence(0)		1/4		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	140836643	140836643	A	T	1	0	0	0	0	1	0	0	0	11616	295	11	4		4	PCDHA7	5	140836643	Missense_Mutation	SNP	A	C3N-00704_TP	28186	140836643	40701616	216	20713											
PCDHB7	0	.	GRCh38	chr5	141175019	141175019	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctgctcggtgcctgagggCccctttccacgacatctggt	4	10	12	15	3	1	1	0	1	1	0	3	2	2	1	4	3	2	2	4	3	0	1	rs782564883		C3N-00704_TP	C3N-00704_NB	C	C																c.2184C>A	p.=	p.G728G	ENST00000231137	1/1	267	229	38	401	401	0	strelka-varscan-mutect	PCDHB7,synonymous_variant,p.=,ENST00000231137,NM_018940.3;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.4;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,upstream_gene_variant,,ENST00000625128,;AC005754.7,upstream_gene_variant,,ENST00000624802,;CH17-140K24.4,upstream_gene_variant,,ENST00000623995,;	A	ENST00000231137	Transcript	synonymous_variant	2401/3765	2184/2382	728/793	G	ggC/ggA	rs782564883	1		1	PCDHB7	HGNC	HGNC:8692	protein_coding	YES	CCDS4249.1	ENSP00000231137	Q9Y5E2		UPI00001273E3	NM_018940.3			1/1		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69																	LOW		SNV				1										PASS		rs782564883	.												A	2	1	63	141175019	141175019	C	A	1	0	0	0	0	0	0	0	1	11634	726	26	2		2	PCDHB7	5	141175019	Silent	SNP	C	C3N-00704_TP	338376	141175019	40363240	217	20714											
PCDHB9	0	.	GRCh38	chr5	141189059	141189059	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtgccccgggcggccGagccgggctacctggtgacc	4	5	17	15	4	0	1	0	1	0	0	0	2	0	1	6	5	4	2	6	5	1	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1741G>T	p.Glu581Ter	p.E581*	ENST00000316105	1/1	514	448	66	793	793	0	varscan-mutect	PCDHB9,stop_gained,p.Glu581Ter,ENST00000316105,NM_019119.4;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.3;PCDHB16,downstream_gene_variant,,ENST00000625044,;PCDHB9,downstream_gene_variant,,ENST00000624909,;CH17-140K24.5,downstream_gene_variant,,ENST00000623884,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,upstream_gene_variant,,ENST00000624089,;CH17-140K24.6,downstream_gene_variant,,ENST00000625144,;PCDHB9,downstream_gene_variant,,ENST00000623266,;CH17-140K24.5,downstream_gene_variant,,ENST00000623407,;	T	ENST00000316105	Transcript	stop_gained	1933/4415	1741/2394	581/797	E/*	Gag/Tag		1		1	PCDHB9	HGNC	HGNC:8694	protein_coding	YES	CCDS75328.1	ENSP00000478606	Q9Y5E1		UPI00005764A0	NM_019119.4			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF128,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313																	HIGH		SNV				1										PASS		.	.												T	4	4	63	141189059	141189059	G	T	1	0	0	0	0	0	1	0	0	11636	1059	37	1		1	PCDHB9	5	141189059	Nonsense_Mutation	SNP	G	C3N-00704_TP	14040	141189059	40349200	218	20715											
PCDHGA4	0	.	GRCh38	chr5	141356893	141356893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtccctgagatcctgtacCccaccttccctactgatggc	7	11	7	16	0	0	2	0	2	0	1	3	3	3	2	6	1	2	1	6	1	2	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1786C>T	p.Pro596Ser	p.P596S	ENST00000571252	1/4	288	251	37	375	374	1	strelka-varscan-mutect	PCDHGA4,missense_variant,p.Pro596Ser,ENST00000571252,NM_018917.3;PCDHGA4,missense_variant,p.Pro596Ser,ENST00000612927,NM_032053.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB2,upstream_gene_variant,,ENST00000522605,NM_018923.2;PCDHGB1,downstream_gene_variant,,ENST00000611598,NM_032095.1;PCDHGB2,upstream_gene_variant,,ENST00000622527,NM_032096.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000571252	Transcript	missense_variant	1869/4778	1786/2889	596/962	P/S	Ccc/Tcc		1		1	PCDHGA4	HGNC	HGNC:8702	protein_coding	YES	CCDS58979.2	ENSP00000458570		A0A087WT05	UPI0003583741	NM_018917.3	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF94,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	141356893	141356893	C	T	1	0	0	0	0	1	0	0	0	11643	623	22	3		3	PCDHGA4	5	141356893	Missense_Mutation	SNP	C	C3N-00704_TP	167834	141356893	40181366	219	20716											
PCDHGA8	0	.	GRCh38	chr5	141394587	141394588	+	Frame_Shift_Ins	INS	-	-	T																															ctacctggtgaccaaggtggINStggcggtggacagagactcg																								novel		C3N-00704_TP	C3N-00704_NB	-	-																c.1775dupT	p.Ala593GlyfsTer74	p.A593Gfs*74	ENST00000398604	1/4	380	311	69	637	637	0	sindel-varindel-pindel	PCDHGA8,frameshift_variant,p.Ala593GlyfsTer74,ENST00000610569,NM_014004.2;PCDHGA8,frameshift_variant,p.Ala593GlyfsTer74,ENST00000398604,NM_032088.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB4,downstream_gene_variant,,ENST00000615384,NM_032098.1;PCDHGB5,upstream_gene_variant,,ENST00000617380,NM_018925.2;PCDHGB5,upstream_gene_variant,,ENST00000621169,NM_032099.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000398604	Transcript	frameshift_variant	1774-1775/4605	1774-1775/2799	592/932	V/VX	gtg/gTtg		1		1	PCDHGA8	HGNC	HGNC:8706	protein_coding	YES	CCDS47291.1	ENSP00000381605	Q9Y5G5		UPI000006FC06	NM_032088.1			1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF72,SMART_domains:SM00112,Superfamily_domains:SSF49313																	HIGH	1	insertion	1	1		1										PASS		.	.												T	7	5	63	141394587	141394587	-	T	1	0	1	1	0	0	0	0	0	11647	1261	44	0		0	PCDHGA8	5	141394587	Frame_Shift_Ins	INS	-	C3N-00704_TP	37694	141394587	40143672	220	20717											
LARS	0	.	GRCh38	chr5	146171979	146171979	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcctttcaatcgctggtaCcctacagcaaactacagaaa	13	11	5	12	1	1	1	1	0	0	1	3	1	2	1	2	1	5	3	2	1	6	5	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.225G>T	p.=	p.G75G	ENST00000394434	4/32	176	150	26	270	270	0	strelka-varscan-mutect	LARS,synonymous_variant,p.=,ENST00000394434,NM_001317965.1,NM_020117.9;LARS,synonymous_variant,p.=,ENST00000510191,;LARS,synonymous_variant,p.=,ENST00000618084,;LARS,5_prime_UTR_variant,,ENST00000274562,;LARS,non_coding_transcript_exon_variant,,ENST00000511505,;LARS,non_coding_transcript_exon_variant,,ENST00000503654,;LARS,intron_variant,,ENST00000505223,;LARS,downstream_gene_variant,,ENST00000506436,;	A	ENST00000394434	Transcript	synonymous_variant	392/4766	225/3531	75/1176	G	ggG/ggT		1		-1	LARS	HGNC	HGNC:6512	protein_coding	YES	CCDS34265.1	ENSP00000377954	Q9P2J5		UPI0000037316	NM_001317965.1,NM_020117.9			4/32		hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF51,Pfam_domain:PF00133,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00395,Superfamily_domains:SSF52374																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	63	146171979	146171979	C	A	1	0	0	0	0	0	0	0	1	8545	494	18	2		2	LARS	5	146171979	Silent	SNP	C	C3N-00704_TP	4777392	146171979	35366280	221	20718											
PPP2R2B	0	.	GRCh38	chr5	146691160	146691160	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggcaggatcccggaGccggccctcctcatctttca	6	9	12	14	2	3	0	2	0	1	0	5	3	5	2	4	5	1	1	4	5	0	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.613C>G	p.Leu205Val	p.L205V	ENST00000394414	5/10	182	152	30	220	220	0	strelka-mutect	PPP2R2B,missense_variant,p.Leu139Val,ENST00000394409,;PPP2R2B,missense_variant,p.Leu128Val,ENST00000453001,NM_001271948.1;PPP2R2B,missense_variant,p.Leu205Val,ENST00000394414,NM_181674.2;PPP2R2B,missense_variant,p.Leu139Val,ENST00000394411,NM_181675.3;PPP2R2B,missense_variant,p.Leu128Val,ENST00000508545,NM_181678.2;PPP2R2B,missense_variant,p.Leu145Val,ENST00000504198,NM_001271899.1,NM_181677.2;PPP2R2B,missense_variant,p.Leu142Val,ENST00000336640,NM_181676.2;PPP2R2B,missense_variant,p.Leu197Val,ENST00000394413,NM_001271900.1;PPP2R2B,non_coding_transcript_exon_variant,,ENST00000530902,;PPP2R2B,intron_variant,,ENST00000522831,;PPP2R2B,3_prime_UTR_variant,,ENST00000512639,;PPP2R2B,downstream_gene_variant,,ENST00000528601,;	C	ENST00000394414	Transcript	missense_variant	902/2262	613/1530	205/509	L/V	Ctc/Gtc		1		-1	PPP2R2B	HGNC	HGNC:9305	protein_coding	YES	CCDS4284.2	ENSP00000377936	Q00005		UPI00005A7962	NM_181674.2	tolerated(0.17)		5/10		hmmpanther:PTHR11871,hmmpanther:PTHR11871:SF1,PIRSF_domain:PIRSF037309																	MODERATE	1	SNV	1			1										PASS		rs1254691315	.												C	3	2	63	146691160	146691160	G	C	1	0	0	0	0	1	0	0	0	12508	971	34	4		4	PPP2R2B	5	146691160	Missense_Mutation	SNP	G	C3N-00704_TP	519181	146691160	34847099	222	20719											
FBXO38	0	.	GRCh38	chr5	148404729	148404729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcccaatgctaaggcacCtttatatgaagtgggtaaga	13	11	10	7	0	0	2	0	1	0	1	1	2	1	2	2	2	1	4	2	2	7	6	rs768270226		C3N-00704_TP	C3N-00704_NB	C	C																c.637C>T	p.Leu213Phe	p.L213F	ENST00000394370	6/22	81	67	14	181	181	0	strelka-varscan-mutect	FBXO38,missense_variant,p.Leu213Phe,ENST00000340253,;FBXO38,missense_variant,p.Leu213Phe,ENST00000394370,NM_030793.4;FBXO38,missense_variant,p.Leu213Phe,ENST00000296701,NM_001271723.1;FBXO38,missense_variant,p.Leu213Phe,ENST00000513826,;FBXO38,non_coding_transcript_exon_variant,,ENST00000509699,;FBXO38,intron_variant,,ENST00000511080,;FBXO38,downstream_gene_variant,,ENST00000503613,;FBXO38,downstream_gene_variant,,ENST00000521160,;FBXO38,non_coding_transcript_exon_variant,,ENST00000502571,;FBXO38,downstream_gene_variant,,ENST00000508326,;FBXO38,downstream_gene_variant,,ENST00000502629,;	T	ENST00000394370	Transcript	missense_variant	738/4132	637/3342	213/1113	L/F	Ctt/Ttt	rs768270226	1		1	FBXO38	HGNC	HGNC:28844	protein_coding	YES	CCDS43384.1	ENSP00000377895	Q6PIJ6		UPI000034ECEB	NM_030793.4	deleterious(0)		6/22		hmmpanther:PTHR14753,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		rs768270226	.												T	3	4	63	148404729	148404729	C	T	1	0	0	0	0	1	0	0	0	5609	681	24	3		3	FBXO38	5	148404729	Missense_Mutation	SNP	C	C3N-00704_TP	1713569	148404729	33133530	223	20720											
SH3TC2	0	.	GRCh38	chr5	149004756	149004756	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaccgcgccctctctgaGgagcacccggagggcctgct	6	5	13	17	3	1	1	0	1	1	0	2	3	1	3	5	3	3	2	5	3	0	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.3822C>T	p.=	p.S1274S	ENST00000515425	17/17	218	182	36	248	248	0	strelka-varscan-mutect	SH3TC2,synonymous_variant,p.=,ENST00000515425,NM_024577.3;SH3TC2,synonymous_variant,p.=,ENST00000512049,;SH3TC2,synonymous_variant,p.=,ENST00000502274,;SH3TC2,intron_variant,,ENST00000515229,;SH3TC2,intron_variant,,ENST00000510350,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;SH3TC2,3_prime_UTR_variant,,ENST00000510779,;SH3TC2,intron_variant,,ENST00000504690,;	A	ENST00000515425	Transcript	synonymous_variant	3924/4059	3822/3867	1274/1288	S	tcC/tcT		1		-1	SH3TC2	HGNC	HGNC:29427	protein_coding	YES	CCDS4293.1	ENSP00000423660	Q8TF17		UPI00001DFBEE	NM_024577.3			17/17		hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	63	149004756	149004756	G	A	1	0	0	0	0	0	0	0	1	14521	987	35	3		3	SH3TC2	5	149004756	Silent	SNP	G	C3N-00704_TP	600027	149004756	32533503	224	20721											
PDE6A	0	.	GRCh38	chr5	149944253	149944253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtgcgacatggcccaCgatgcccatgtccaaaggga	11	6	13	11	2	0	1	0	0	0	1	1	4	1	2	3	2	2	0	3	2	1	0	rs757733655		C3N-00704_TP	C3N-00704_NB	C	C																c.421G>T	p.Val141Leu	p.V141L	ENST00000255266	1/22	311	249	62	390	388	2	strelka-varscan-mutect	PDE6A,missense_variant,p.Val141Leu,ENST00000255266,NM_000440.2;PDE6A,missense_variant,p.Val141Leu,ENST00000613228,;PDE6A,missense_variant,p.Val141Leu,ENST00000617647,;Y_RNA,upstream_gene_variant,,ENST00000363464,;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;	A	ENST00000255266	Transcript	missense_variant	541/5642	421/2583	141/860	V/L	Gtg/Ttg	rs757733655	1		-1	PDE6A	HGNC	HGNC:8785	protein_coding	YES	CCDS4299.1	ENSP00000255266	P16499		UPI000013CE9F	NM_000440.2	deleterious(0.05)		1/22		hmmpanther:PTHR11347:SF115,hmmpanther:PTHR11347,Gene3D:3.30.450.40,Pfam_domain:PF01590,SMART_domains:SM00065,Superfamily_domains:SSF55781																	MODERATE	1	SNV	1			1										PASS		rs757733655	.												A	3	1	63	149944253	149944253	C	A	1	0	0	0	0	1	0	0	0	11733	536	19	1		1	PDE6A	5	149944253	Missense_Mutation	SNP	C	C3N-00704_TP	939497	149944253	31594006	225	20722											
SLC36A1	0	.	GRCh38	chr5	151479450	151479450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgagcactgtgagttagtgGtggacctgtttgtgcgcaca	7	11	14	9	2	0	1	0	1	0	0	0	3	0	2	2	2	2	4	2	2	1	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1120G>T	p.Val374Leu	p.V374L	ENST00000243389	10/11	183	148	35	201	201	0	strelka-varscan-mutect	SLC36A1,missense_variant,p.Val374Leu,ENST00000243389,NM_078483.2;SLC36A1,missense_variant,p.Val374Leu,ENST00000520701,;SLC36A1,missense_variant,p.Val374Leu,ENST00000521925,;SLC36A1,missense_variant,p.Val374Leu,ENST00000616007,;SLC36A1,missense_variant,p.Val133Leu,ENST00000517628,;RNA5SP197,upstream_gene_variant,,ENST00000363357,;SLC36A1,3_prime_UTR_variant,,ENST00000522185,;	T	ENST00000243389	Transcript	missense_variant	1343/5781	1120/1431	374/476	V/L	Gtg/Ttg		1		1	SLC36A1	HGNC	HGNC:18761	protein_coding	YES	CCDS4316.1	ENSP00000243389	Q7Z2H8		UPI00001A9D3C	NM_078483.2	tolerated(0.31)		10/11		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF188																	MODERATE	1	SNV	1			1										PASS		rs1053544056	.												T	3	4	63	151479450	151479450	G	T	1	0	0	0	0	1	0	0	0	14871	1261	44	2		2	SLC36A1	5	151479450	Missense_Mutation	SNP	G	C3N-00704_TP	1535197	151479450	30058809	226	20723											
GLRA1	0	.	GRCh38	chr5	151892371	151892371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccccattagcttatccaGgaaatccgagggtgacatag	11	10	9	11	1	1	1	0	1	1	0	4	3	3	2	4	2	1	1	4	2	4	3	rs267600494		C3N-00704_TP	C3N-00704_NB	G	G																c.124C>A	p.Leu42Met	p.L42M	ENST00000455880	2/9	381	325	56	399	399	0	strelka-varscan-mutect	GLRA1,missense_variant,p.Leu42Met,ENST00000274576,NM_000171.3,NM_001292000.1;GLRA1,missense_variant,p.Leu42Met,ENST00000455880,NM_001146040.1;GLRA1,non_coding_transcript_exon_variant,,ENST00000471351,;GLRA1,intron_variant,,ENST00000462581,;	T	ENST00000455880	Transcript	missense_variant	411/1707	124/1374	42/457	L/M	Ctg/Atg	rs267600494	1		-1	GLRA1	HGNC	HGNC:4326	protein_coding	YES	CCDS54942.1	ENSP00000411593	P23415		UPI0000DA6BF2	NM_001146040.1	deleterious(0.03)		2/9		hmmpanther:PTHR18945:SF213,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR01673																	MODERATE	1	SNV	1			1										PASS		rs267600494	.												T	3	4	63	151892371	151892371	G	T	1	0	0	0	0	1	0	0	0	6333	991	35	2		2	GLRA1	5	151892371	Missense_Mutation	SNP	G	C3N-00704_TP	412921	151892371	29645888	227	20724											
ITK	0	.	GRCh38	chr5	157181104	157181104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagcctggcatactttgaaGatcgtcatggggtatgtgag	9	11	13	8	1	1	3	1	2	0	1	2	3	1	3	2	3	2	2	2	3	3	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.127G>C	p.Asp43His	p.D43H	ENST00000422843	1/17	394	316	78	457	457	0	strelka-varscan-mutect	ITK,missense_variant,p.Asp43His,ENST00000422843,NM_005546.3;ITK,intron_variant,,ENST00000521769,;ITK,non_coding_transcript_exon_variant,,ENST00000522616,;ITK,missense_variant,p.Asp43His,ENST00000517779,;ITK,non_coding_transcript_exon_variant,,ENST00000519402,;ITK,non_coding_transcript_exon_variant,,ENST00000520555,;	C	ENST00000422843	Transcript	missense_variant	279/4528	127/1863	43/620	D/H	Gat/Cat		1		1	ITK	HGNC	HGNC:6171	protein_coding	YES	CCDS4336.1	ENSP00000398655	Q08881		UPI000004CADA	NM_005546.3	tolerated(0.56)		1/17		PROSITE_profiles:PS50003,hmmpanther:PTHR24418:SF61,hmmpanther:PTHR24418,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	63	157181104	157181104	G	C	1	0	0	0	0	1	0	0	0	7815	942	33	4		4	ITK	5	157181104	Missense_Mutation	SNP	G	C3N-00704_TP	5288733	157181104	24357155	228	20725											
ITK	0	.	GRCh38	chr5	157248904	157248904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcccgtatgaaaaccgaaGcaactcagaggtggtggaag	15	6	12	8	2	1	2	1	1	0	1	2	4	2	3	2	3	3	2	2	3	7	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1688G>A	p.Ser563Asn	p.S563N	ENST00000422843	16/17	613	500	113	618	618	0	strelka-varscan-mutect	ITK,missense_variant,p.Ser563Asn,ENST00000422843,NM_005546.3;ITK,non_coding_transcript_exon_variant,,ENST00000519749,;ITK,non_coding_transcript_exon_variant,,ENST00000519402,;ITK,downstream_gene_variant,,ENST00000523926,;ITK,downstream_gene_variant,,ENST00000520173,;	A	ENST00000422843	Transcript	missense_variant	1840/4528	1688/1863	563/620	S/N	aGc/aAc		1		1	ITK	HGNC	HGNC:6171	protein_coding	YES	CCDS4336.1	ENSP00000398655	Q08881		UPI000004CADA	NM_005546.3	tolerated(0.57)		16/17		PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF61,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	157248904	157248904	G	A	1	0	0	0	0	1	0	0	0	7815	971	34	3		3	ITK	5	157248904	Missense_Mutation	SNP	G	C3N-00704_TP	67800	157248904	24289355	229	20726											
C1QTNF2	0	.	GRCh38	chr5	160349709	160349709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccccttggggccacgggggCcagcccgcccaatggccccg	4	3	14	20	3	0	0	0	0	0	0	0	0	0	0	8	5	1	0	8	5	1	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.452G>A	p.Gly151Asp	p.G151D	ENST00000393975	3/3	62	38	24	80	80	0	strelka-varscan-mutect	C1QTNF2,missense_variant,p.Gly151Asp,ENST00000393975,NM_031908.4;CCNJL,upstream_gene_variant,,ENST00000521643,;	T	ENST00000393975	Transcript	missense_variant	456/2414	452/993	151/330	G/D	gGc/gAc		1		-1	C1QTNF2	HGNC	HGNC:14325	protein_coding	YES	CCDS4351.2	ENSP00000377545	Q9BXJ5		UPI0000D4B9D3	NM_031908.4	deleterious(0)		3/3		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF607,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	160349709	160349709	C	T	1	0	0	0	0	1	0	0	0	1941	739	26	3		3	C1QTNF2	5	160349709	Missense_Mutation	SNP	C	C3N-00704_TP	3100805	160349709	21188550	230	20727											
GABRA6	0	.	GRCh38	chr5	161689651	161689651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagatgcttatcccaaaaGtgaaatcatatatacgtgga	15	13	7	6	1	1	2	1	1	0	1	2	3	2	3	1	1	2	1	1	1	8	6	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.545G>T	p.Ser182Ile	p.S182I	ENST00000274545	6/9	67	58	9	167	167	0	strelka-varscan-mutect	GABRA6,missense_variant,p.Ser172Ile,ENST00000523217,;GABRA6,missense_variant,p.Ser182Ile,ENST00000274545,NM_000811.2;GABRA6,missense_variant,p.Ser122Ile,ENST00000520000,;GABRA6,missense_variant,p.Ser102Ile,ENST00000523691,;GABRA6,missense_variant,p.Ser129Ile,ENST00000517823,;RP11-348M17.2,upstream_gene_variant,,ENST00000521984,;GABRA6,downstream_gene_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,non_coding_transcript_exon_variant,,ENST00000521520,;GABRA6,downstream_gene_variant,,ENST00000524220,;	T	ENST00000274545	Transcript	missense_variant	978/2128	545/1362	182/453	S/I	aGt/aTt		1		1	GABRA6	HGNC	HGNC:4080	protein_coding	YES	CCDS4356.1	ENSP00000274545	Q16445		UPI000013DA14	NM_000811.2	deleterious(0)		6/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932																	MODERATE	1	SNV	1			1										PASS		rs774441339	.												T	3	4	63	161689651	161689651	G	T	1	0	0	0	0	1	0	0	0	6036	1029	36	2		2	GABRA6	5	161689651	Missense_Mutation	SNP	G	C3N-00704_TP	1339942	161689651	19848608	231	20728											
TENM2	0	.	GRCh38	chr5	168244702	168244702	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggaaagtgtggagctacTcctaccttgacaaggtaggt	11	9	13	8	1	0	1	0	1	0	0	1	3	1	3	2	4	3	2	2	4	5	4	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.5803T>C	p.Ser1935Pro	p.S1935P	ENST00000518659	26/29	25	16	9	14	14	0	strelka-varscan-mutect	TENM2,missense_variant,p.Ser1814Pro,ENST00000519204,;TENM2,missense_variant,p.Ser1935Pro,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Ser1696Pro,ENST00000520394,;TENM2,downstream_gene_variant,,ENST00000517941,;	C	ENST00000518659	Transcript	missense_variant	5842/8550	5803/8325	1935/2774	S/P	Tcc/Ccc		1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1	deleterious(0)		26/29		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	63	168244702	168244702	T	C	1	0	0	0	0	1	0	0	0	16172	1551	54	5		5	TENM2	5	168244702	Missense_Mutation	SNP	T	C3N-00704_TP	6555051	168244702	13293557	232	20729											
DOCK2	0	.	GRCh38	chr5	169714158	169714158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggctttctgtcagctcccGggatgtgttctccatttcca	4	14	11	12	1	3	0	1	0	2	0	6	1	5	1	3	3	1	3	3	3	0	3			C3N-00704_TP	C3N-00704_NB	G	G																c.1790G>T	p.Arg597Leu	p.R597L	ENST00000256935	18/52	85	72	13	82	82	0	strelka-varscan-mutect	DOCK2,missense_variant,p.Arg597Leu,ENST00000256935,NM_004946.2;DOCK2,missense_variant,p.Arg89Leu,ENST00000520908,;DOCK2,missense_variant,p.Arg115Leu,ENST00000540750,;DOCK2,upstream_gene_variant,,ENST00000520836,;DOCK2,missense_variant,p.Arg597Leu,ENST00000524185,;	T	ENST00000256935	Transcript	missense_variant	1870/6097	1790/5493	597/1830	R/L	cGg/cTg	COSM4531469	1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2	deleterious(0)		18/52		Low_complexity_(Seg):seg,PROSITE_profiles:PS51650,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Pfam_domain:PF14429											1						MODERATE	1	SNV	1		1	1										PASS		rs1384088682	.												T	3	4	63	169714158	169714158	G	T	1	0	0	0	0	1	0	0	0	4502	1116	39	1		1	DOCK2	5	169714158	Missense_Mutation	SNP	G	C3N-00704_TP	1469456	169714158	11824101	233	20730											
DOCK2	0	.	GRCh38	chr5	170041118	170041118	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacacagaggctgcctacacGctccttctccacacctggct	8	9	7	17	1	1	1	0	0	1	1	3	1	2	1	4	2	3	3	4	2	2	3	rs560979452		C3N-00704_TP	C3N-00704_NB	G	G																c.3729G>T	p.=	p.T1243T	ENST00000256935	37/52	295	257	38	291	291	0	strelka-varscan-mutect	DOCK2,synonymous_variant,p.=,ENST00000256935,NM_004946.2;DOCK2,synonymous_variant,p.=,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000518056,;	T	ENST00000256935	Transcript	synonymous_variant	3809/6097	3729/5493	1243/1830	T	acG/acT	rs560979452	1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2			37/52		PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Pfam_domain:PF06920,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		rs560979452	.												T	2	4	63	170041118	170041118	G	T	1	0	0	0	0	0	0	0	1	4502	1074	38	1		1	DOCK2	5	170041118	Silent	SNP	G	C3N-00704_TP	326960	170041118	11497141	234	20731											
GPRIN1	0	.	GRCh38	chr5	176597065	176597065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccatggcggcgccgtataCctcccacgtcatgcccttct	5	10	8	18	4	2	0	1	0	1	0	4	0	4	0	5	2	2	1	5	2	2	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2770G>A	p.Val924Ile	p.V924I	ENST00000303991	2/2	122	104	18	141	141	0	strelka-varscan-mutect	GPRIN1,missense_variant,p.Val924Ile,ENST00000303991,NM_052899.2;CDHR2,downstream_gene_variant,,ENST00000510636,NM_001171976.1;CDHR2,downstream_gene_variant,,ENST00000261944,NM_017675.4;CDHR2,downstream_gene_variant,,ENST00000506348,;	T	ENST00000303991	Transcript	missense_variant	2948/4211	2770/3027	924/1008	V/I	Gta/Ata		1		-1	GPRIN1	HGNC	HGNC:24835	protein_coding	YES	CCDS4405.1	ENSP00000305839	Q7Z2K8		UPI0000246D49	NM_052899.2	deleterious(0)		2/2		hmmpanther:PTHR12239:SF37,hmmpanther:PTHR12239,Pfam_domain:PF15235																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	176597065	176597065	C	T	1	0	0	0	0	1	0	0	0	6608	507	18	3		3	GPRIN1	5	176597065	Missense_Mutation	SNP	C	C3N-00704_TP	6555947	176597065	4941194	235	20732											
HK3	0	.	GRCh38	chr5	176881398	176881398	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttctccaccacggcagctAcacccgccccacagagctgg	8	6	8	19	2	2	1	0	0	2	1	3	1	2	1	5	2	3	3	5	2	1	2	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.2531T>A	p.Val844Glu	p.V844E	ENST00000292432	18/19	250	210	40	335	335	0	strelka-varscan-mutect	HK3,missense_variant,p.Val844Glu,ENST00000292432,NM_002115.2;UNC5A,downstream_gene_variant,,ENST00000329542,NM_133369.2;HK3,downstream_gene_variant,,ENST00000514058,;HK3,non_coding_transcript_exon_variant,,ENST00000506834,;HK3,non_coding_transcript_exon_variant,,ENST00000514666,;	T	ENST00000292432	Transcript	missense_variant	2623/3066	2531/2772	844/923	V/E	gTa/gAa		1		-1	HK3	HGNC	HGNC:4925	protein_coding	YES	CCDS4407.1	ENSP00000292432	P52790	A0A024R7R1	UPI000006E237	NM_002115.2	deleterious(0)		18/19		PROSITE_profiles:PS51748,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF1,Gene3D:3.40.367.20,Pfam_domain:PF03727,Superfamily_domains:SSF53067,Prints_domain:PR00475																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	176881398	176881398	A	T	1	0	0	0	0	1	0	0	0	7081	391	14	4		4	HK3	5	176881398	Missense_Mutation	SNP	A	C3N-00704_TP	284333	176881398	4656861	236	20733											
RMND5B	0	.	GRCh38	chr5	178147592	178147592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaggctgtgattgagcAgcggcagtgcactggggtct	8	9	15	9	1	2	2	1	2	1	0	2	2	2	2	0	4	3	4	0	4	1	1	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.920A>G	p.Gln307Arg	p.Q307R	ENST00000515098	10/12	247	208	39	262	262	0	strelka-varscan-mutect	RMND5B,missense_variant,p.Gln307Arg,ENST00000515098,NM_001288794.1;RMND5B,missense_variant,p.Gln307Arg,ENST00000313386,NM_022762.4;RMND5B,missense_variant,p.Gln294Arg,ENST00000542098,NM_001288795.1;NHP2,downstream_gene_variant,,ENST00000274606,NM_017838.3;RMND5B,downstream_gene_variant,,ENST00000507457,;RMND5B,downstream_gene_variant,,ENST00000502814,;NHP2,downstream_gene_variant,,ENST00000314397,NM_001034833.1;RMND5B,downstream_gene_variant,,ENST00000508647,;NHP2,downstream_gene_variant,,ENST00000502263,;NHP2,downstream_gene_variant,,ENST00000511078,;NHP2,downstream_gene_variant,,ENST00000514354,;RMND5B,non_coding_transcript_exon_variant,,ENST00000513162,;RMND5B,non_coding_transcript_exon_variant,,ENST00000515360,;RMND5B,non_coding_transcript_exon_variant,,ENST00000507937,;RMND5B,non_coding_transcript_exon_variant,,ENST00000507575,;RMND5B,downstream_gene_variant,,ENST00000512663,;RMND5B,downstream_gene_variant,,ENST00000512811,;	G	ENST00000515098	Transcript	missense_variant	1271/4066	920/1182	307/393	Q/R	cAg/cGg		1		1	RMND5B	HGNC	HGNC:26181	protein_coding	YES	CCDS4431.1	ENSP00000420875	Q96G75		UPI0000037C23	NM_001288794.1	deleterious(0.01)		10/12		hmmpanther:PTHR12170:SF6,hmmpanther:PTHR12170																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	63	178147592	178147592	A	G	1	0	0	0	0	1	0	0	0	13577	188	7	5		5	RMND5B	5	178147592	Missense_Mutation	SNP	A	C3N-00704_TP	1266194	178147592	3390667	237	20734											
FOXF2	0	.	GRCh38	chr6	1390450	1390450	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctaagggcctcgggcggcCcggcaagggccactactgga	7	4	16	14	3	0	0	0	0	0	0	1	1	0	1	4	6	1	1	4	6	3	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.503C>A	p.Pro168His	p.P168H	ENST00000259806	1/2	532	430	102	649	649	0	strelka-varscan-mutect	FOXF2,missense_variant,p.Pro168His,ENST00000259806,NM_001452.1;MIR6720,upstream_gene_variant,,ENST00000611664,;	A	ENST00000259806	Transcript	missense_variant	617/2187	503/1335	168/444	P/H	cCc/cAc		1		1	FOXF2	HGNC	HGNC:3810	protein_coding	YES	CCDS4472.1	ENSP00000259806	Q12947		UPI000012ADD6	NM_001452.1	deleterious(0)		1/2		Low_complexity_(Seg):seg,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF224,Gene3D:1.10.10.10,Pfam_domain:PF00250,SMART_domains:SM00339,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		rs1173749640	.												A	3	1	63	1390450	1390450	C	A	1	0	0	0	0	1	0	0	0	5868	623	22	2		2	FOXF2	6	1390450	Missense_Mutation	SNP	C	C3N-00704_TP		1390450	169415529	238	20735											
F13A1	0	.	GRCh38	chr6	6197327	6197327	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccagcagtggtagttcCttagaaaacacaagcccaga	14	8	8	11	0	0	2	0	0	0	2	2	2	2	2	3	1	3	3	3	1	5	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1113-1G>T		p.X371_splice	ENST00000264870		572	465	107	624	623	1	strelka-varscan-mutect	F13A1,splice_acceptor_variant,,ENST00000264870,NM_000129.3;	A	ENST00000264870	Transcript	splice_acceptor_variant	-/3999	1113/2199	371/732				1		-1	F13A1	HGNC	HGNC:3531	protein_coding	YES	CCDS4496.1	ENSP00000264870	P00488		UPI000013D585	NM_000129.3				8/14																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	63	6197327	6197327	C	A	1	0	0	0	0	0	0	1	0	5208	695	24	2		2	F13A1	6	6197327	Splice_Site	SNP	C	C3N-00704_TP	4806877	6197327	164608652	239	20736											
DSP	0	.	GRCh38	chr6	7584991	7584991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcatgggcagtggtGtcagcgatgatgtttttagc	8	11	15	7	1	1	1	1	1	0	0	1	2	1	1	0	2	4	5	0	2	1	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.7729G>T	p.Val2577Phe	p.V2577F	ENST00000379802	24/24	438	345	93	514	514	0	strelka-varscan-mutect	DSP,missense_variant,p.Val2577Phe,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Val1978Phe,ENST00000418664,NM_001008844.1;	T	ENST00000379802	Transcript	missense_variant	8070/9796	7729/8616	2577/2871	V/F	Gtc/Ttc		1		1	DSP	HGNC	HGNC:3052	protein_coding	YES	CCDS4501.1	ENSP00000369129	P15924		UPI000013C67F	NM_004415.2	tolerated(0.51)		24/24		Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF234																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	7584991	7584991	G	T	1	0	0	0	0	1	0	0	0	4602	1377	48	2		2	DSP	6	7584991	Missense_Mutation	SNP	G	C3N-00704_TP	1387664	7584991	163220988	240	20737											
CAP2	0	.	GRCh38	chr6	17507703	17507703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccaccttttacactaacagGgtcttaaaggactacaaaca	15	9	6	11	0	1	0	0	0	1	0	1	1	1	1	2	2	4	0	2	2	6	5	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.507G>T	p.Arg169Ser	p.R169S	ENST00000229922	6/13	173	155	18	188	186	2	strelka-varscan-mutect	CAP2,missense_variant,p.Arg169Ser,ENST00000229922,NM_006366.2;CAP2,missense_variant,p.Arg143Ser,ENST00000378990,;CAP2,intron_variant,,ENST00000616440,;CAP2,intron_variant,,ENST00000611958,;CAP2,intron_variant,,ENST00000489374,;CAP2,intron_variant,,ENST00000465994,;CAP2,intron_variant,,ENST00000493172,;CAP2,missense_variant,p.Arg143Ser,ENST00000479291,;CAP2,3_prime_UTR_variant,,ENST00000476263,;	T	ENST00000229922	Transcript	missense_variant	1039/3316	507/1434	169/477	R/S	agG/agT		1		1	CAP2	HGNC	HGNC:20039	protein_coding	YES	CCDS4539.1	ENSP00000229922	P40123		UPI0000126EC6	NM_006366.2	deleterious(0)		6/13		Superfamily_domains:0043456,Pfam_domain:PF01213,hmmpanther:PTHR10652,hmmpanther:PTHR10652:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	17507703	17507703	G	T	1	0	0	0	0	1	0	0	0	2312	1223	43	2		2	CAP2	6	17507703	Missense_Mutation	SNP	G	C3N-00704_TP	9922712	17507703	153298276	241	20738											
SLC17A4	0	.	GRCh38	chr6	25773513	25773513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatgtgtgctttcttccagGactgttcaccaggctggtct	5	15	11	10	0	3	1	1	1	2	0	4	2	4	2	2	3	1	3	2	3	0	3	rs774010672		C3N-00704_TP	C3N-00704_NB	G	G																c.826G>T	p.Asp276Tyr	p.D276Y	ENST00000377905	8/12	74	55	19	87	87	0	strelka-varscan-mutect	SLC17A4,missense_variant,p.Asp222Tyr,ENST00000439485,NM_001286121.1;SLC17A4,missense_variant,p.Asp276Tyr,ENST00000377905,NM_005495.2;SLC17A4,missense_variant,p.Asp46Tyr,ENST00000397076,;	T	ENST00000377905	Transcript	missense_variant,splice_region_variant	945/3616	826/1494	276/497	D/Y	Gac/Tac	rs774010672	1		1	SLC17A4	HGNC	HGNC:10932	protein_coding	YES	CCDS4564.1	ENSP00000367137	Q9Y2C5	A0A024R013	UPI0000073585	NM_005495.2	tolerated(1)		8/12		Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF284,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		rs774010672	.												T	3	4	63	25773513	25773513	G	T	1	0	0	0	0	1	0	0	0	14684	1188	41	2		2	SLC17A4	6	25773513	Missense_Mutation	SNP	G	C3N-00704_TP	8265810	25773513	145032466	242	20739											
GPX5	0	.	GRCh38	chr6	28531816	28531816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgaagccctatggtCtagttgtgttgggctttccc	6	13	13	9	0	1	1	0	1	1	0	2	2	2	2	2	3	2	4	2	3	3	5	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.280C>A	p.Leu94Ile	p.L94I	ENST00000412168	3/5	204	166	38	249	247	2	strelka-varscan-mutect	GPX5,missense_variant,p.Leu94Ile,ENST00000412168,NM_001509.2;GPX5,intron_variant,,ENST00000469384,NM_003996.3;GPX5,non_coding_transcript_exon_variant,,ENST00000442674,;GPX5,intron_variant,,ENST00000483784,;GPX6,upstream_gene_variant,,ENST00000483058,;	A	ENST00000412168	Transcript	missense_variant	369/1540	280/666	94/221	L/I	Cta/Ata		1		1	GPX5	HGNC	HGNC:4557	protein_coding	YES	CCDS4652.1	ENSP00000392398	O75715	V9HWN8	UPI0000031FD7	NM_001509.2	deleterious(0.02)		3/5		Gene3D:3.40.30.10,Pfam_domain:PF00255,PIRSF_domain:PIRSF000303,Prints_domain:PR01011,PROSITE_profiles:PS51355,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF29,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	28531816	28531816	C	A	1	0	0	0	0	1	0	0	0	6622	912	32	2		2	GPX5	6	28531816	Missense_Mutation	SNP	C	C3N-00704_TP	2758303	28531816	142274163	243	20740											
ZBED9	0	.	GRCh38	chr6	28575040	28575040	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttaaagtattttctaactcTttgtcagcctgatctaattc	10	18	4	9	0	4	1	1	1	3	0	5	1	4	1	1	0	2	1	1	0	5	8	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1665A>T	p.Lys555Asn	p.K555N	ENST00000452236	3/4	280	212	68	435	435	0	strelka-varscan-mutect	ZBED9,missense_variant,p.Lys555Asn,ENST00000452236,NM_052923.1;ZBED9,downstream_gene_variant,,ENST00000530247,;	A	ENST00000452236	Transcript	missense_variant	2283/4877	1665/3978	555/1325	K/N	aaA/aaT		1		-1	ZBED9	HGNC	HGNC:13851	protein_coding	YES	CCDS34355.1	ENSP00000395259	Q6R2W3		UPI00001618B7	NM_052923.1	tolerated_low_confidence(0.11)		3/4		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	28575040	28575040	T	A	1	0	0	0	0	1	0	0	0	18086	1606	56	4		4	ZBED9	6	28575040	Missense_Mutation	SNP	T	C3N-00704_TP	43224	28575040	142230939	244	20741											
TRIM10	0	.	GRCh38	chr6	30158548	30158548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctccaattgtgctaagaGgatgctctgctgttcctcta	7	14	9	11	0	3	1	0	0	3	1	5	2	4	2	2	1	3	5	2	1	3	4	rs760939998		C3N-00704_TP	C3N-00704_NB	G	G																c.607C>A	p.Leu203Ile	p.L203I	ENST00000449742	3/7	361	286	75	514	514	0	strelka-varscan-mutect	TRIM10,missense_variant,p.Leu203Ile,ENST00000449742,NM_006778.3;TRIM10,missense_variant,p.Leu203Ile,ENST00000376704,NM_052828.2;TRIM15,upstream_gene_variant,,ENST00000619857,;TRIM15,upstream_gene_variant,,ENST00000376694,NM_033229.2;	T	ENST00000449742	Transcript	missense_variant	683/3546	607/1446	203/481	L/I	Ctc/Atc	rs760939998	1		-1	TRIM10	HGNC	HGNC:10072	protein_coding	YES	CCDS34375.1	ENSP00000397073	Q9UDY6		UPI000000D736	NM_006778.3	deleterious(0.02)		3/7		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF329																	MODERATE	1	SNV	1			1										PASS		rs760939998	.												T	3	4	63	30158548	30158548	G	T	1	0	0	0	0	1	0	0	0	16975	1000	35	2		2	TRIM10	6	30158548	Missense_Mutation	SNP	G	C3N-00704_TP	1583508	30158548	140647431	245	20742											
NOTCH4	0	.	GRCh38	chr6	32195871	32195871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgacagcgtccggcagcGcggcagagccccgcccccat	6	3	14	18	5	0	2	0	1	0	1	1	2	1	2	5	3	3	3	5	3	0	0	rs764118051		C3N-00704_TP	C3N-00704_NB	G	G																c.5578C>T	p.Arg1860Cys	p.R1860C	ENST00000375023	30/30	190	154	36	221	221	0	strelka-varscan-mutect	NOTCH4,missense_variant,p.Arg1860Cys,ENST00000375023,NM_004557.3;GPSM3,upstream_gene_variant,,ENST00000375040,NM_001276501.1;GPSM3,upstream_gene_variant,,ENST00000487761,;GPSM3,upstream_gene_variant,,ENST00000375043,NM_022107.1;GPSM3,upstream_gene_variant,,ENST00000619085,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000474612,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000491215,;GPSM3,upstream_gene_variant,,ENST00000472768,;	A	ENST00000375023	Transcript	missense_variant	5717/6745	5578/6012	1860/2003	R/C	Cgc/Tgc	rs764118051	1		-1	NOTCH4	HGNC	HGNC:7884	protein_coding	YES	CCDS34420.1	ENSP00000364163	Q99466		UPI0000130571	NM_004557.3	deleterious(0)		30/30		hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF64																	MODERATE	1	SNV	1			1										PASS		rs764118051	.												A	3	1	63	32195871	32195871	G	A	1	0	0	0	0	1	0	0	0	10596	1087	38	1		1	NOTCH4	6	32195871	Missense_Mutation	SNP	G	C3N-00704_TP	2037323	32195871	138610108	246	20743											
NOTCH4	0	.	GRCh38	chr6	32202250	32202250	+	Frame_Shift_Del	DEL	G	G	-																															ctccatcccagtttcctcccGggccactgcagccagcatcg																								rs746443332		C3N-00704_TP	C3N-00704_NB	G	G																c.3581delC	p.Pro1194ArgfsTer110	p.P1194Rfs*110	ENST00000375023	21/30	28	19	9	46	46	0	sindel-varindel-pindel	NOTCH4,frameshift_variant,p.Pro1194ArgfsTer110,ENST00000375023,NM_004557.3;NOTCH4,non_coding_transcript_exon_variant,,ENST00000474612,;	-	ENST00000375023	Transcript	frameshift_variant	3720/6745	3581/6012	1194/2003	P/X	cCg/cg	rs746443332	1		-1	NOTCH4	HGNC	HGNC:7884	protein_coding	YES	CCDS34420.1	ENSP00000364163	Q99466		UPI0000130571	NM_004557.3			21/30		PROSITE_profiles:PS50258,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF64,Pfam_domain:PF00066,SMART_domains:SM00004,Prints_domain:PR01452																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	63	32202250	32202250	G	-	1	0	1	0	1	0	0	0	0	10596	1116	39	0		0	NOTCH4	6	32202250	Frame_Shift_Del	DEL	G	C3N-00704_TP	6379	32202250	138603729	247	20744											
ITPR3	0	.	GRCh38	chr6	33676810	33676810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggacgtggagaactacaagGtgatcaagtcggagctggac	13	6	15	7	2	1	2	1	1	0	1	2	6	1	5	0	5	3	1	0	5	4	1	rs756112186		C3N-00704_TP	C3N-00704_NB	G	G																c.3325G>T	p.Val1109Leu	p.V1109L	ENST00000374316	27/59	168	135	33	236	236	0	strelka-varscan-mutect	ITPR3,missense_variant,p.Val1109Leu,ENST00000374316,;ITPR3,missense_variant,p.Val1109Leu,ENST00000605930,NM_002224.3;	T	ENST00000374316	Transcript	missense_variant	4385/9870	3325/8016	1109/2671	V/L	Gtg/Ttg	rs756112186,COSM1672312,COSM1672313	1		1	ITPR3	HGNC	HGNC:6182	protein_coding	YES	CCDS4783.1	ENSP00000363435	Q14573		UPI000013CB74		tolerated(0.1)		27/59		hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs756112186	.												T	3	4	63	33676810	33676810	G	T	1	0	0	0	0	1	0	0	0	7828	1261	44	2		2	ITPR3	6	33676810	Missense_Mutation	SNP	G	C3N-00704_TP	1474560	33676810	137129169	248	20745											
CMTR1	0	.	GRCh38	chr6	37458678	37458678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgcgcaggcccaggtGgcttctcagagtatgtgctg	6	11	14	10	1	2	1	1	0	2	1	3	1	2	1	1	3	2	4	1	3	1	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.844G>T	p.Gly282Cys	p.G282C	ENST00000373451	9/24	386	313	73	457	457	0	strelka-varscan-mutect	CMTR1,missense_variant,p.Gly282Cys,ENST00000373451,NM_015050.2;CMTR1,missense_variant,p.Gly226Cys,ENST00000455891,;CMTR1,upstream_gene_variant,,ENST00000493656,;	T	ENST00000373451	Transcript	missense_variant	1008/4033	844/2508	282/835	G/C	Ggc/Tgc		1		1	CMTR1	HGNC	HGNC:21077	protein_coding	YES	CCDS4835.1	ENSP00000362550	Q8N1G2		UPI00000700C2	NM_015050.2	deleterious(0)		9/24		PROSITE_profiles:PS51613,hmmpanther:PTHR16121:SF0,hmmpanther:PTHR16121,Gene3D:3.40.50.150,Pfam_domain:PF01728,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	37458678	37458678	G	T	1	0	0	0	0	1	0	0	0	3366	1348	47	2		2	CMTR1	6	37458678	Missense_Mutation	SNP	G	C3N-00704_TP	3781868	37458678	133347301	249	20746											
CAPN11	0	.	GRCh38	chr6	44176921	44176921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacactctctggggactacaAgagctactggcacaccacct	11	8	8	14	0	1	1	0	0	1	1	2	2	1	2	2	3	4	2	2	3	4	3	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.1160A>G	p.Lys387Arg	p.K387R	ENST00000398776	11/23	244	204	40	316	316	0	strelka-varscan-mutect	CAPN11,missense_variant,p.Lys387Arg,ENST00000398776,NM_007058.3;CAPN11,downstream_gene_variant,,ENST00000532171,;CAPN11,non_coding_transcript_exon_variant,,ENST00000524554,;CAPN11,non_coding_transcript_exon_variant,,ENST00000533604,;	G	ENST00000398776	Transcript	missense_variant	1198/2728	1160/2220	387/739	K/R	aAg/aGg		1		1	CAPN11	HGNC	HGNC:1478	protein_coding	YES	CCDS47436.1	ENSP00000381758	Q9UMQ6		UPI00000383D5	NM_007058.3	tolerated(0.37)		11/23		hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF322																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	63	44176921	44176921	A	G	1	0	0	0	0	1	0	0	0	2316	72	3	5		5	CAPN11	6	44176921	Missense_Mutation	SNP	A	C3N-00704_TP	6718243	44176921	126629058	250	20747											
PGK2	0	.	GRCh38	chr6	49786195	49786195	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattccaaacaattagcctTgcttgagccacaacttgagc	12	10	6	13	0	0	2	0	2	0	0	1	2	1	2	4	0	6	1	4	0	4	5	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.993A>T	p.=	p.A331A	ENST00000304801	1/1	389	327	62	429	428	1	strelka-varscan-mutect	PGK2,synonymous_variant,p.=,ENST00000304801,NM_138733.4;	A	ENST00000304801	Transcript	synonymous_variant	1113/1657	993/1254	331/417	A	gcA/gcT		1		-1	PGK2	HGNC	HGNC:8898	protein_coding	YES	CCDS4930.1	ENSP00000305995	P07205	A0A140VJR3	UPI0000001C72	NM_138733.4			1/1		Gene3D:3.40.50.1270,HAMAP:MF_00145,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF10,Superfamily_domains:SSF53748																	LOW	1	SNV				1										PASS		.	.												A	2	1	63	49786195	49786195	T	A	1	0	0	0	0	0	0	0	1	11880	1799	63	4		4	PGK2	6	49786195	Silent	SNP	T	C3N-00704_TP	5609274	49786195	121019784	251	20748											
FAM83B	0	.	GRCh38	chr6	54940432	54940432	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaacccttgaacatacCacaaagtcattcctacgtaa	15	9	4	13	1	1	1	1	1	0	0	2	1	2	1	4	0	5	1	4	0	6	5	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1461C>A	p.=	p.T487T	ENST00000306858	5/5	200	169	31	206	206	0	strelka-varscan-mutect	FAM83B,synonymous_variant,p.=,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;	A	ENST00000306858	Transcript	synonymous_variant	1577/3167	1461/3036	487/1011	T	acC/acA		1		1	FAM83B	HGNC	HGNC:21357	protein_coding	YES	CCDS34479.1	ENSP00000304078	Q5T0W9		UPI00001D81EC	NM_001010872.2			5/5		hmmpanther:PTHR16181:SF4,hmmpanther:PTHR16181																	LOW	1	SNV	1			1										PASS		rs1029940353	.												A	2	1	63	54940432	54940432	C	A	1	0	0	0	0	0	0	0	1	5492	581	21	2		2	FAM83B	6	54940432	Silent	SNP	C	C3N-00704_TP	5154237	54940432	115865547	252	20749											
FAM83B	0	.	GRCh38	chr6	54941218	54941218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacttgatgtgaataaagaGgaatctaacaaagaacttgc	17	11	8	5	0	1	4	0	2	1	2	1	5	1	5	0	1	4	0	0	1	8	5	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2247G>T	p.Glu749Asp	p.E749D	ENST00000306858	5/5	151	131	20	272	272	0	strelka-varscan-mutect	FAM83B,missense_variant,p.Glu749Asp,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;	T	ENST00000306858	Transcript	missense_variant	2363/3167	2247/3036	749/1011	E/D	gaG/gaT		1		1	FAM83B	HGNC	HGNC:21357	protein_coding	YES	CCDS34479.1	ENSP00000304078	Q5T0W9		UPI00001D81EC	NM_001010872.2	tolerated(0.08)		5/5		hmmpanther:PTHR16181:SF4,hmmpanther:PTHR16181																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	54941218	54941218	G	T	1	0	0	0	0	1	0	0	0	5492	991	35	2		2	FAM83B	6	54941218	Missense_Mutation	SNP	G	C3N-00704_TP	786	54941218	115864761	253	20750											
DST	0	.	GRCh38	chr6	56642095	56642095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactcctgattctaatctttTagaatcctgtattttaaaag	12	17	4	8	0	2	2	0	1	2	1	4	2	4	2	2	0	0	1	2	0	6	7	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1366A>G	p.Lys456Glu	p.K456E	ENST00000312431	14/95	101	87	14	252	252	0	strelka-varscan-mutect	DST,missense_variant,p.Lys416Glu,ENST00000361203,;DST,missense_variant,p.Lys416Glu,ENST00000421834,NM_183380.3;DST,missense_variant,p.Lys456Glu,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,missense_variant,p.Lys416Glu,ENST00000370788,;DST,missense_variant,p.Lys90Glu,ENST00000244364,NM_015548.4;DST,missense_variant,p.Lys90Glu,ENST00000439203,;DST,missense_variant,p.Lys90Glu,ENST00000370765,NM_001723.5;DST,missense_variant,p.Lys456Glu,ENST00000520645,;DST,missense_variant,p.Lys90Glu,ENST00000518935,;DST,missense_variant,p.Lys594Glu,ENST00000449297,;DST,non_coding_transcript_exon_variant,,ENST00000521104,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,downstream_gene_variant,,ENST00000518828,;	C	ENST00000312431	Transcript	missense_variant	1492/17756	1366/16614	456/5537	K/E	Aaa/Gaa		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1	deleterious(0.04)		14/95		hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	63	56642095	56642095	T	C	1	0	0	0	0	1	0	0	0	4604	1763	61	5		5	DST	6	56642095	Missense_Mutation	SNP	T	C3N-00704_TP	1700877	56642095	114163884	254	20751											
ADGRB3	0	.	GRCh38	chr6	69332969	69332969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttaataaacttgtttccaGagatggaatcctagataaaa	17	13	6	5	0	0	2	0	0	0	2	2	4	2	3	2	1	1	1	2	1	7	7			C3N-00704_TP	C3N-00704_NB	G	G																c.3149G>A	p.Arg1050Lys	p.R1050K	ENST00000370598	24/32	107	89	18	177	176	1	strelka-varscan-mutect	ADGRB3,missense_variant,p.Arg1050Lys,ENST00000370598,NM_001704.2;ADGRB3,missense_variant,p.Arg1050Lys,ENST00000546190,;ADGRB3,missense_variant,p.Arg256Lys,ENST00000238918,;	A	ENST00000370598	Transcript	missense_variant	3970/6010	3149/4569	1050/1522	R/K	aGa/aAa	COSM93946	1		1	ADGRB3	HGNC	HGNC:945	protein_coding	YES	CCDS4968.1	ENSP00000359630	O60242		UPI00001AE6A9	NM_001704.2	tolerated(1)		24/32		PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF40,Pfam_domain:PF00002											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	63	69332969	69332969	G	A	1	0	0	0	0	1	0	0	0	357	942	33	3		3	ADGRB3	6	69332969	Missense_Mutation	SNP	G	C3N-00704_TP	12690874	69332969	101473010	255	20752											
SNAP91	0	.	GRCh38	chr6	83580534	83580534	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactgggtggtaccattgAgacaggtgcaggctgcccag	9	7	16	9	0	0	1	0	1	0	1	0	3	0	2	2	5	3	3	2	5	1	2	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.2215T>A	p.Ser739Thr	p.S739T	ENST00000439399	24/30	107	85	22	171	171	0	strelka-varscan-mutect	SNAP91,missense_variant,p.Ser734Thr,ENST00000521485,;SNAP91,missense_variant,p.Ser739Thr,ENST00000439399,NM_014841.2;SNAP91,missense_variant,p.Ser739Thr,ENST00000369694,NM_001242792.1;SNAP91,missense_variant,p.Ser734Thr,ENST00000195649,NM_001256718.1;SNAP91,missense_variant,p.Ser739Thr,ENST00000521743,;SNAP91,missense_variant,p.Ser709Thr,ENST00000520302,NM_001256717.1,NM_001242793.1;SNAP91,missense_variant,p.Ser432Thr,ENST00000520213,NM_001242794.1;SNAP91,missense_variant,p.Ser552Thr,ENST00000521931,;SNAP91,missense_variant,p.Ser80Thr,ENST00000523448,;SNAP91,upstream_gene_variant,,ENST00000519133,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;	T	ENST00000439399	Transcript	missense_variant	2532/4452	2215/2724	739/907	S/T	Tca/Aca		1		-1	SNAP91	HGNC	HGNC:14986	protein_coding	YES	CCDS47455.1	ENSP00000400459	O60641		UPI0000124FB3	NM_014841.2	tolerated(0.46)		24/30		Low_complexity_(Seg):seg,hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	83580534	83580534	A	T	1	0	0	0	0	1	0	0	0	15154	304	11	4		4	SNAP91	6	83580534	Missense_Mutation	SNP	A	C3N-00704_TP	14247565	83580534	87225445	256	20753											
GABRR2	0	.	GRCh38	chr6	89267788	89267788	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattcatccccattcttccaGtacagcattagatcttcatc	10	14	4	13	0	4	1	2	0	2	1	7	2	6	1	3	0	2	2	3	0	2	6	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.627C>A	p.Tyr209Ter	p.Y209*	ENST00000402938	6/9	85	57	28	145	145	0	strelka-varscan-mutect	GABRR2,stop_gained,p.Tyr209Ter,ENST00000402938,NM_002043.3;GABRR2,downstream_gene_variant,,ENST00000602808,;GABRR2,non_coding_transcript_exon_variant,,ENST00000602432,;	T	ENST00000402938	Transcript	stop_gained	761/1682	627/1398	209/465	Y/*	taC/taA		1		-1	GABRR2	HGNC	HGNC:4091	protein_coding	YES	CCDS5020.3	ENSP00000386029	P28476		UPI000012B0DB	NM_002043.3			6/9		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF197,TIGRFAM_domain:TIGR00860																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	63	89267788	89267788	G	T	1	0	0	0	0	0	1	0	0	6048	1024	36	2		2	GABRR2	6	89267788	Nonsense_Mutation	SNP	G	C3N-00704_TP	5687254	89267788	81538191	257	20754											
PRDM13	0	.	GRCh38	chr6	99613597	99613597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagagcagcagcaagcaagGagccggcctcgctttgggca	10	4	16	11	2	0	1	0	0	0	1	1	3	0	2	2	4	5	6	2	4	2	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.962G>T	p.Gly321Val	p.G321V	ENST00000369215	4/4	93	71	22	125	125	0	strelka-varscan-mutect	PRDM13,missense_variant,p.Gly321Val,ENST00000369215,NM_021620.3;PRDM13,3_prime_UTR_variant,,ENST00000369214,;	T	ENST00000369215	Transcript	missense_variant	1267/2429	962/2124	321/707	G/V	gGa/gTa		1		1	PRDM13	HGNC	HGNC:13998	protein_coding	YES	CCDS43487.1	ENSP00000358217	Q9H4Q3		UPI000047099D	NM_021620.3	deleterious_low_confidence(0.01)		4/4		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	63	99613597	99613597	G	T	1	0	0	0	0	1	0	0	0	12585	1174	41	2		2	PRDM13	6	99613597	Missense_Mutation	SNP	G	C3N-00704_TP	10345809	99613597	71192382	258	20755											
OSTM1	0	.	GRCh38	chr6	108049276	108049276	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgagtttgcgtttctttTgctctgagtgaagaaagcta	10	15	11	5	1	2	4	0	3	2	1	2	5	2	4	0	0	3	4	0	0	4	5	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.926A>T	p.Gln309Leu	p.Q309L	ENST00000193322	5/6	198	164	34	393	393	0	strelka-varscan-mutect	OSTM1,missense_variant,p.Gln309Leu,ENST00000193322,NM_014028.3;OSTM1,missense_variant,p.Gln162Leu,ENST00000440575,;OSTM1,non_coding_transcript_exon_variant,,ENST00000472669,;OSTM1,non_coding_transcript_exon_variant,,ENST00000477774,;	A	ENST00000193322	Transcript	missense_variant	1012/4467	926/1005	309/334	Q/L	cAa/cTa		1		-1	OSTM1	HGNC	HGNC:21652	protein_coding	YES	CCDS5062.1	ENSP00000193322	Q86WC4		UPI00000472C4	NM_014028.3	deleterious(0)		5/6		Pfam_domain:PF09777,hmmpanther:PTHR15644																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	108049276	108049276	T	A	1	0	0	0	0	1	0	0	0	11365	1812	63	4		4	OSTM1	6	108049276	Missense_Mutation	SNP	T	C3N-00704_TP	8435679	108049276	62756703	259	20756											
RNF217	0	.	GRCh38	chr6	124963111	124963127	+	Frame_Shift_Del	DEL	TGGGGCTCCGCCAGTGT	TGGGGCTCCGCCAGTGT	-																															tcgccgcccgcgtcgccaccTggggctccgccagtgttgaa																								novel		C3N-00704_TP	C3N-00704_NB	TGGGGCTCCGCCAGTGT	TGGGGCTCCGCCAGTGT																c.569_585delGGGCTCCGCCAGTGTTG	p.Gly190GlufsTer116	p.G190Efs*116	ENST00000521654	1/6	86	68	18	128	128	0	sindel-varindel-pindel	RNF217,frameshift_variant,p.Gly190GlufsTer116,ENST00000521654,NM_001286398.1;RNF217,5_prime_UTR_variant,,ENST00000560949,;RNF217-AS1,upstream_gene_variant,,ENST00000439075,;RNF217,upstream_gene_variant,,ENST00000519971,;RNF217,upstream_gene_variant,,ENST00000519565,;	-	ENST00000521654	Transcript	frameshift_variant	567-583/11325	567-583/1629	189-195/542	PGAPPVL/PX	ccTGGGGCTCCGCCAGTGTtg/cctg		1		1	RNF217	HGNC	HGNC:21487	protein_coding	YES	CCDS69191.1	ENSP00000428698	Q8TC41		UPI00022F843E	NM_001286398.1			1/6		Low_complexity_(Seg):seg,hmmpanther:PTHR11685:SF113,hmmpanther:PTHR11685																	HIGH		deletion	2	2		1										PASS		.	.												-	7	5	63	124963111	124963111	TGGGGCTCCGCCAGTGT	-	1	0	1	0	1	0	0	0	0	13660	1567	55	0		0	RNF217	6	124963111	Frame_Shift_Del	DEL	TGGGGCTCCGCCAGTGT	C3N-00704_TP	16913835	124963111	45842868	260	20757											
TAAR1	0	.	GRCh38	chr6	132645741	132645741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacttctccaaaataccaaCagtgctcagcagatctcacc	14	8	5	14	0	3	2	2	0	2	2	5	2	3	2	3	0	4	2	3	0	4	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.263G>C	p.Cys88Ser	p.C88S	ENST00000275216	1/1	257	215	42	381	381	0	strelka-varscan-mutect	TAAR1,missense_variant,p.Cys88Ser,ENST00000275216,NM_138327.1;	G	ENST00000275216	Transcript	missense_variant	263/1020	263/1020	88/339	C/S	tGt/tCt		1		-1	TAAR1	HGNC	HGNC:17734	protein_coding	YES	CCDS5158.1	ENSP00000275216	Q96RJ0		UPI000000D874	NM_138327.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF220,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01830																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	63	132645741	132645741	C	G	1	0	0	0	0	1	0	0	0	15885	478	17	4		4	TAAR1	6	132645741	Missense_Mutation	SNP	C	C3N-00704_TP	7682630	132645741	38160238	261	20758											
STXBP5	0	.	GRCh38	chr6	147373739	147373739	+	Frame_Shift_Del	DEL	G	G	-																															ttgattttaaaggaaatgttGggtgaactcttcactcctgt																								novel		C3N-00704_TP	C3N-00704_NB	G	G																c.3092delG	p.Gly1031ValfsTer7	p.G1031Vfs*7	ENST00000321680	26/28	78	63	15	174	174	0	sindel-varindel-pindel	STXBP5,frameshift_variant,p.Gly995ValfsTer7,ENST00000367481,NM_139244.4;STXBP5,frameshift_variant,p.Gly1031ValfsTer7,ENST00000321680,NM_001127715.2;STXBP5,frameshift_variant,p.Gly978ValfsTer7,ENST00000367480,;	-	ENST00000321680	Transcript	frameshift_variant	3090/3456	3090/3456	1030/1151	L/X	ttG/tt		1		1	STXBP5	HGNC	HGNC:19665	protein_coding	YES	CCDS47499.1	ENSP00000321826	Q5T5C0		UPI0000199FE0	NM_001127715.2			26/28		hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF22																	HIGH	1	deletion	5	2		1										PASS		.	.												-	7	5	63	147373739	147373739	G	-	1	0	1	0	1	0	0	0	0	15740	1339	47	0		0	STXBP5	6	147373739	Frame_Shift_Del	DEL	G	C3N-00704_TP	14727998	147373739	23432240	262	20759											
SYNE1	0	.	GRCh38	chr6	152331656	152331656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccacatttaactcctcCaagttggtgactgacacttg	10	12	7	12	0	0	2	0	2	0	0	2	2	2	2	3	1	2	2	3	1	2	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.13029G>T	p.Leu4343Phe	p.L4343F	ENST00000367255	78/146	552	425	127	737	737	0	strelka-varscan-mutect	SYNE1,missense_variant,p.Leu4343Phe,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Leu4272Phe,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Leu4191Phe,ENST00000341594,;SYNE1,5_prime_UTR_variant,,ENST00000448038,;SYNE1,non_coding_transcript_exon_variant,,ENST00000490135,;SYNE1,downstream_gene_variant,,ENST00000471834,;	A	ENST00000367255	Transcript	missense_variant	13631/27748	13029/26394	4343/8797	L/F	ttG/ttT		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			78/146		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	152331656	152331656	C	A	1	0	0	0	0	1	0	0	0	15837	593	21	2		2	SYNE1	6	152331656	Missense_Mutation	SNP	C	C3N-00704_TP	4957917	152331656	18474323	263	20760											
TCP1	0	.	GRCh38	chr6	159781097	159781097	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgaattctctccttggTgatatctgattctctgcaaa	8	17	6	10	0	4	3	0	3	4	0	7	3	5	3	1	1	1	1	1	1	3	5	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.811A>T	p.Thr271Ser	p.T271S	ENST00000321394	8/12	62	42	20	95	95	0	strelka-varscan-mutect	TCP1,missense_variant,p.Thr271Ser,ENST00000321394,NM_030752.2;TCP1,missense_variant,p.Thr116Ser,ENST00000392168,NM_001008897.1;TCP1,missense_variant,p.Thr271Ser,ENST00000420894,;TCP1,missense_variant,p.Thr47Ser,ENST00000544255,;TCP1,missense_variant,p.Thr69Ser,ENST00000539756,;ACAT2,downstream_gene_variant,,ENST00000367048,NM_005891.2;TCP1,downstream_gene_variant,,ENST00000539948,;TCP1,downstream_gene_variant,,ENST00000537390,;TCP1,downstream_gene_variant,,ENST00000538128,;TCP1,downstream_gene_variant,,ENST00000536394,;SNORA29,downstream_gene_variant,,ENST00000384183,;SNORA20,upstream_gene_variant,,ENST00000384662,;ACAT2,downstream_gene_variant,,ENST00000472052,;TCP1,downstream_gene_variant,,ENST00000543532,;TCP1,non_coding_transcript_exon_variant,,ENST00000536807,;TCP1,downstream_gene_variant,,ENST00000538530,;TCP1,downstream_gene_variant,,ENST00000545764,;TCP1,downstream_gene_variant,,ENST00000467544,;TCP1,upstream_gene_variant,,ENST00000546204,;TCP1,downstream_gene_variant,,ENST00000543517,;	A	ENST00000321394	Transcript	missense_variant	1092/2499	811/1671	271/556	T/S	Acc/Tcc		1		-1	TCP1	HGNC	HGNC:11655	protein_coding	YES	CCDS5269.1	ENSP00000317334	P17987		UPI0000136AEA	NM_030752.2	tolerated(0.06)		8/12		hmmpanther:PTHR11353,Pfam_domain:PF00118,TIGRFAM_domain:TIGR02340,Gene3D:3.50.7.10,Superfamily_domains:SSF52029																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	159781097	159781097	T	A	1	0	0	0	0	1	0	0	0	16116	1696	59	4		4	TCP1	6	159781097	Missense_Mutation	SNP	T	C3N-00704_TP	7449441	159781097	11024882	264	20761											
PDE10A	0	.	GRCh38	chr6	165379299	165379299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggcaatgatggctttgCggatgatctcaagcacctgc	8	11	12	10	1	1	2	1	2	1	0	2	3	1	3	1	3	3	3	1	3	2	1	rs772091396		C3N-00704_TP	C3N-00704_NB	C	C																c.1880G>T	p.Arg627Leu	p.R627L	ENST00000539869	18/22	235	196	39	332	332	0	strelka-varscan-mutect	PDE10A,missense_variant,p.Arg617Leu,ENST00000366882,NM_006661.3;PDE10A,missense_variant,p.Arg627Leu,ENST00000539869,NM_001130690.2;	A	ENST00000539869	Transcript	missense_variant	1936/4401	1880/2370	627/789	R/L	cGc/cTc	rs772091396,COSM5357472,COSM5357473	1		-1	PDE10A	HGNC	HGNC:8772	protein_coding	YES	CCDS47513.1	ENSP00000438284	Q9Y233		UPI000006F80E	NM_001130690.2	deleterious(0.01)		18/22		Gene3D:1.10.1300.10,Pfam_domain:PF00233,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF111,SMART_domains:SM00471,Superfamily_domains:SSF109604											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs772091396	.												A	3	1	63	165379299	165379299	C	A	1	0	0	0	0	1	0	0	0	11718	768	27	1		1	PDE10A	6	165379299	Missense_Mutation	SNP	C	C3N-00704_TP	5598202	165379299	5426680	265	20762											
WDR27	0	.	GRCh38	chr6	169643758	169643758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagtaacagatggttggcCaacccacaggccagccactg	12	5	11	13	1	0	1	0	0	0	1	0	2	0	1	4	3	3	2	4	3	2	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1686G>T	p.Leu562Phe	p.L562F	ENST00000448612	17/26	113	96	17	160	159	1	strelka-varscan-mutect	WDR27,missense_variant,p.Leu562Phe,ENST00000448612,NM_182552.4;WDR27,missense_variant,p.Leu435Phe,ENST00000423258,NM_001202550.1;WDR27,downstream_gene_variant,,ENST00000441385,;WDR27,non_coding_transcript_exon_variant,,ENST00000546525,;WDR27,non_coding_transcript_exon_variant,,ENST00000479310,;	A	ENST00000448612	Transcript	missense_variant	1796/3178	1686/2688	562/895	L/F	ttG/ttT		1		-1	WDR27	HGNC	HGNC:21248	protein_coding	YES	CCDS47520.2	ENSP00000416289	A2RRH5		UPI00015E06AF	NM_182552.4	deleterious(0.03)		17/26		PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF410,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF50998																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	169643758	169643758	C	A	1	0	0	0	0	1	0	0	0	17844	593	21	2		2	WDR27	6	169643758	Missense_Mutation	SNP	C	C3N-00704_TP	4264459	169643758	1162221	266	20763											
DGKB	0	.	GRCh38	chr7	14178064	14178064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcactgagccagccgcCggccagcacttttcaggcct	8	6	12	15	2	1	1	1	1	0	0	1	2	1	2	5	3	4	2	5	3	0	2	rs781698994		C3N-00704_TP	C3N-00704_NB	C	C																c.2213G>T	p.Arg738Leu	p.R738L	ENST00000403951	24/26	116	95	21	140	140	0	strelka-varscan-mutect	DGKB,missense_variant,p.Arg738Leu,ENST00000403951,;DGKB,missense_variant,p.Arg738Leu,ENST00000399322,NM_004080.2;DGKB,missense_variant,p.Arg737Leu,ENST00000402815,;DGKB,missense_variant,p.Arg730Leu,ENST00000407950,;DGKB,missense_variant,p.Arg738Leu,ENST00000406247,NM_145695.2;DGKB,non_coding_transcript_exon_variant,,ENST00000493142,;	A	ENST00000403951	Transcript	missense_variant	2633/6917	2213/2415	738/804	R/L	cGg/cTg	rs781698994	1		-1	DGKB	HGNC	HGNC:2850	protein_coding	YES	CCDS47547.1	ENSP00000385780	Q9Y6T7		UPI0000033B9B		tolerated(0.1)		24/26		hmmpanther:PTHR11255:SF32,hmmpanther:PTHR11255,Pfam_domain:PF00609,SMART_domains:SM00045,Superfamily_domains:SSF111331																	MODERATE	1	SNV	5			1										PASS		rs781698994	.												A	3	1	63	14178064	14178064	C	A	1	0	0	0	0	1	0	0	0	4272	652	23	1		1	DGKB	7	14178064	Missense_Mutation	SNP	C	C3N-00704_TP		14178064	145167909	267	20764											
ABCB5	0	.	GRCh38	chr7	20643239	20643239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgatttttggttacataCagatttccttgtggattata	9	19	7	6	0	0	2	0	1	0	1	1	3	1	3	2	2	2	1	2	2	4	9	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.370C>A	p.Gln124Lys	p.Q124K	ENST00000404938	6/28	152	129	23	151	150	1	strelka-varscan-mutect	ABCB5,missense_variant,p.Gln124Lys,ENST00000404938,NM_001163941.1;ABCB5,upstream_gene_variant,,ENST00000258738,NM_178559.5;ABCB5,upstream_gene_variant,,ENST00000443026,NM_001163942.1;ABCB5,upstream_gene_variant,,ENST00000406935,NM_001163993.2;ABCB5,upstream_gene_variant,,ENST00000477094,;AC002486.3,upstream_gene_variant,,ENST00000435098,;	A	ENST00000404938	Transcript	missense_variant	1022/5811	370/3774	124/1257	Q/K	Cag/Aag		1		1	ABCB5	HGNC	HGNC:46	protein_coding	YES	CCDS55090.1	ENSP00000384881	Q2M3G0		UPI000173A253	NM_001163941.1	deleterious(0.01)		6/28		Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,Superfamily_domains:SSF90123,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	20643239	20643239	C	A	1	0	0	0	0	1	0	0	0	48	479	17	2		2	ABCB5	7	20643239	Missense_Mutation	SNP	C	C3N-00704_TP	6465175	20643239	138702734	268	20765											
NPC1L1	0	.	GRCh38	chr7	44540162	44540162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggccggtgtagaggcgggGgcagatcttctgtaatagga	8	8	19	6	2	2	2	0	0	2	2	2	3	2	3	1	7	0	3	1	7	3	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.235C>A	p.Pro79Thr	p.P79T	ENST00000289547	2/20	300	270	30	403	403	0	strelka-varscan-mutect	NPC1L1,missense_variant,p.Pro79Thr,ENST00000289547,NM_013389.2;NPC1L1,missense_variant,p.Pro79Thr,ENST00000546276,;NPC1L1,missense_variant,p.Pro79Thr,ENST00000381160,NM_001101648.1;NPC1L1,missense_variant,p.Pro79Thr,ENST00000423141,NM_001300967.1;	T	ENST00000289547	Transcript	missense_variant	291/5048	235/4080	79/1359	P/T	Ccc/Acc		1		-1	NPC1L1	HGNC	HGNC:7898	protein_coding	YES	CCDS5491.1	ENSP00000289547	Q9UHC9		UPI000013DF88	NM_013389.2	deleterious(0)		2/20		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89,Pfam_domain:PF16414																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	44540162	44540162	G	T	1	0	0	0	0	1	0	0	0	10619	1232	43	2		2	NPC1L1	7	44540162	Missense_Mutation	SNP	G	C3N-00704_TP	23896923	44540162	114805811	269	20766											
CALN1	0	.	GRCh38	chr7	71810489	71810489	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagttatcctttgcatgtCaaactgtggagataaagagt	13	12	10	6	0	1	3	1	0	0	3	2	4	2	3	1	1	2	2	1	1	4	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.505G>C	p.Asp169His	p.D169H	ENST00000395275	6/7	84	66	18	99	99	0	strelka-varscan-mutect	CALN1,missense_variant,p.Asp169His,ENST00000395275,NM_031468.3;CALN1,missense_variant,p.Asp127His,ENST00000329008,NM_001017440.2;CALN1,missense_variant,p.Asp127His,ENST00000395276,;CALN1,missense_variant,p.Asp3His,ENST00000405452,;CALN1,missense_variant,p.Asp127His,ENST00000431984,;	G	ENST00000395275	Transcript	missense_variant	894/9459	505/786	169/261	D/H	Gac/Cac		1		-1	CALN1	HGNC	HGNC:13248	protein_coding	YES	CCDS47603.1	ENSP00000378690	Q9BXU9		UPI0000D4B903	NM_031468.3	deleterious(0)		6/7		hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF51,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	63	71810489	71810489	C	G	1	0	0	0	0	1	0	0	0	2282	840	29	4		4	CALN1	7	71810489	Missense_Mutation	SNP	C	C3N-00704_TP	27270327	71810489	87535484	270	20767											
POM121	0	.	GRCh38	chr7	72942328	72942328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcctgtctttagcagcatgGggccacctgcatctgtgccc	6	10	11	14	0	2	0	0	0	2	0	2	0	2	0	4	2	5	3	4	2	1	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1540G>T	p.Gly514Trp	p.G514W	ENST00000395270	14/16	244	202	42	308	308	0	strelka-varscan-mutect	POM121,missense_variant,p.Gly514Trp,ENST00000395270,NM_001257190.2;POM121,missense_variant,p.Gly514Trp,ENST00000627934,NM_172020.4;POM121,missense_variant,p.Gly514Trp,ENST00000358357,;POM121,missense_variant,p.Gly779Trp,ENST00000434423,;POM121,missense_variant,p.Gly514Trp,ENST00000446813,;	T	ENST00000395270	Transcript	missense_variant	2581/7011	1540/3000	514/999	G/W	Ggg/Tgg		1		1	POM121	HGNC	HGNC:19702	protein_coding	YES	CCDS59059.1	ENSP00000378687	Q96HA1		UPI000013DA6B	NM_001257190.2	deleterious(0)		14/16		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	72942328	72942328	G	T	1	0	0	0	0	1	0	0	0	12350	1232	43	2		2	POM121	7	72942328	Missense_Mutation	SNP	G	C3N-00704_TP	1131839	72942328	86403645	271	20768											
FGL2	0	.	GRCh38	chr7	77199446	77199446	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccggggctcctgtactgggTaacaacagtccgtttctgcc	6	10	11	14	2	1	0	0	0	1	0	3	0	3	0	4	3	4	4	4	3	3	3	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.348A>T	p.Leu116Phe	p.L116F	ENST00000248598	1/2	246	210	36	322	321	1	strelka-varscan	FGL2,missense_variant,p.Leu116Phe,ENST00000248598,NM_006682.2;FGL2,missense_variant,p.Leu116Phe,ENST00000637771,;CCDC146,intron_variant,,ENST00000285871,NM_020879.2;CCDC146,intron_variant,,ENST00000415750,;RP11-467H10.2,downstream_gene_variant,,ENST00000459742,;	A	ENST00000248598	Transcript	missense_variant	381/4261	348/1320	116/439	L/F	ttA/ttT		1		-1	FGL2	HGNC	HGNC:3696	protein_coding	YES	CCDS5591.1	ENSP00000248598	Q14314	A4D1B8	UPI000012A724	NM_006682.2	deleterious(0.05)		1/2		hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF189																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	77199446	77199446	T	A	1	0	0	0	0	1	0	0	0	5737	1635	57	4		4	FGL2	7	77199446	Missense_Mutation	SNP	T	C3N-00704_TP	4257118	77199446	82146527	272	20769											
HGF	0	.	GRCh38	chr7	81720764	81720764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgtaagtcttccatgtTcttgtcccacattgaacatg	9	14	7	11	1	2	1	0	1	2	0	4	2	4	1	3	0	1	2	3	0	2	5	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1252A>G	p.Asn418Asp	p.N418D	ENST00000222390	10/18	168	150	18	327	327	0	strelka-varscan	HGF,missense_variant,p.Asn418Asp,ENST00000222390,NM_000601.4;HGF,missense_variant,p.Asn413Asp,ENST00000457544,NM_001010932.1;	C	ENST00000222390	Transcript	missense_variant	1479/5989	1252/2187	418/728	N/D	Aac/Gac		1		-1	HGF	HGNC	HGNC:4893	protein_coding	YES	CCDS5597.1	ENSP00000222390	P14210		UPI000000D92B	NM_000601.4	tolerated(0.06)		10/18		PROSITE_profiles:PS50070,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152,Gene3D:2.40.20.10,Pfam_domain:PF00051,SMART_domains:SM00130,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	63	81720764	81720764	T	C	1	0	0	0	0	1	0	0	0	6969	1783	62	5		5	HGF	7	81720764	Missense_Mutation	SNP	T	C3N-00704_TP	4521318	81720764	77625209	273	20770											
SAMD9	0	.	GRCh38	chr7	93102647	93102647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctaaatccaaaagagCaattagatcatcaactgaaa	18	10	5	8	0	3	3	2	1	1	2	4	3	4	3	1	0	3	2	1	0	8	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.3451G>A	p.Ala1151Thr	p.A1151T	ENST00000379958	3/3	277	238	39	570	570	0	strelka-varscan	SAMD9,missense_variant,p.Ala1151Thr,ENST00000379958,NM_017654.3;SAMD9,missense_variant,p.Ala1151Thr,ENST00000620985,NM_001193307.1;SAMD9,missense_variant,p.Ala1151Thr,ENST00000446617,;	T	ENST00000379958	Transcript	missense_variant	3721/6852	3451/4770	1151/1589	A/T	Gct/Act		1		-1	SAMD9	HGNC	HGNC:1348	protein_coding	YES	CCDS34680.1	ENSP00000369292	Q5K651		UPI0000038BC6	NM_017654.3	tolerated(0.62)		3/3		hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	93102647	93102647	C	T	1	0	0	0	0	1	0	0	0	14086	710	25	3		3	SAMD9	7	93102647	Missense_Mutation	SNP	C	C3N-00704_TP	11381883	93102647	66243326	274	20771											
SAMD9	0	.	GRCh38	chr7	93103835	93103835	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcacatctgaatttcttccTtagttcccagagaatgtgca	11	13	7	10	0	2	2	0	1	2	1	4	3	4	2	2	0	2	3	2	0	3	4	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.2263A>T	p.Arg755Trp	p.R755W	ENST00000379958	3/3	307	267	40	394	394	0	strelka-varscan	SAMD9,missense_variant,p.Arg755Trp,ENST00000379958,NM_017654.3;SAMD9,missense_variant,p.Arg755Trp,ENST00000620985,NM_001193307.1;SAMD9,missense_variant,p.Arg755Trp,ENST00000446617,;	A	ENST00000379958	Transcript	missense_variant	2533/6852	2263/4770	755/1589	R/W	Agg/Tgg		1		-1	SAMD9	HGNC	HGNC:1348	protein_coding	YES	CCDS34680.1	ENSP00000369292	Q5K651		UPI0000038BC6	NM_017654.3	deleterious(0)		3/3		hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF17,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	93103835	93103835	T	A	1	0	0	0	0	1	0	0	0	14086	1608	56	4		4	SAMD9	7	93103835	Missense_Mutation	SNP	T	C3N-00704_TP	1188	93103835	66242138	275	20772											
SAMD9	0	.	GRCh38	chr7	93103870	93103870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgcatagccaaggtagttCccccacagcctggatgatga	10	9	11	11	0	0	2	0	2	0	0	1	3	1	3	4	2	3	3	4	2	3	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2228G>T	p.Gly743Val	p.G743V	ENST00000379958	3/3	251	205	46	280	280	0	strelka-varscan	SAMD9,missense_variant,p.Gly743Val,ENST00000379958,NM_017654.3;SAMD9,missense_variant,p.Gly743Val,ENST00000620985,NM_001193307.1;SAMD9,missense_variant,p.Gly743Val,ENST00000446617,;	A	ENST00000379958	Transcript	missense_variant	2498/6852	2228/4770	743/1589	G/V	gGa/gTa		1		-1	SAMD9	HGNC	HGNC:1348	protein_coding	YES	CCDS34680.1	ENSP00000369292	Q5K651		UPI0000038BC6	NM_017654.3	deleterious(0)		3/3		hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF17,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	93103870	93103870	C	A	1	0	0	0	0	1	0	0	0	14086	855	30	2		2	SAMD9	7	93103870	Missense_Mutation	SNP	C	C3N-00704_TP	35	93103870	66242103	276	20773											
CALCR	0	.	GRCh38	chr7	93438119	93438119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgggtttccacactcaGccagcagctgaaaaagggca	14	6	10	11	0	1	1	1	1	0	0	2	1	2	1	2	2	3	4	2	2	3	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.973C>A	p.Leu325Met	p.L325M	ENST00000359558	13/16	288	240	48	324	324	0	strelka-varscan	CALCR,missense_variant,p.Leu325Met,ENST00000359558,NM_001164737.1;CALCR,missense_variant,p.Leu307Met,ENST00000421592,;CALCR,missense_variant,p.Leu291Met,ENST00000394441,NM_001164738.1;CALCR,missense_variant,p.Leu291Met,ENST00000426151,NM_001742.3;CALCR,3_prime_UTR_variant,,ENST00000360249,;CALCR,3_prime_UTR_variant,,ENST00000423724,;CALCR,3_prime_UTR_variant,,ENST00000415529,;	T	ENST00000359558	Transcript	missense_variant	1273/3696	973/1527	325/508	L/M	Ctg/Atg		1		-1	CALCR	HGNC	HGNC:1440	protein_coding	YES	CCDS55125.1	ENSP00000352561		A0A0A0MRG0	UPI0001B8380B	NM_001164737.1	tolerated(0.56)		13/16		PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF84,hmmpanther:PTHR12011,Pfam_domain:PF00002,Superfamily_domains:SSF81321																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	93438119	93438119	G	T	1	0	0	0	0	1	0	0	0	2269	962	34	2		2	CALCR	7	93438119	Missense_Mutation	SNP	G	C3N-00704_TP	334249	93438119	65907854	277	20774											
SHFM1	0	.	GRCh38	chr7	96486392	96486392	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacttttcctccttgtacaGcaaacacagcacaaatgttg	12	11	5	13	0	0	0	0	0	0	0	2	0	2	0	3	0	4	4	3	0	3	5	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.38C>A	p.Ala13Asp	p.A13D	ENST00000615352	2/3	339	272	67	362	362	0	strelka-varscan	SHFM1,missense_variant,p.Ala13Asp,ENST00000356686,NM_001201450.1;SHFM1,missense_variant,p.Ala13Asp,ENST00000615352,NM_001201451.1;SHFM1,non_coding_transcript_exon_variant,,ENST00000493858,;SHFM1,non_coding_transcript_exon_variant,,ENST00000611360,;SHFM1,3_prime_UTR_variant,,ENST00000613919,;SHFM1,3_prime_UTR_variant,,ENST00000617133,;SHFM1,3_prime_UTR_variant,,ENST00000618105,;SHFM1,3_prime_UTR_variant,,ENST00000466986,;SHFM1,3_prime_UTR_variant,,ENST00000619259,;	T	ENST00000615352	Transcript	missense_variant	85/2637	38/357	13/118	A/D	gCt/gAt		1		-1	SHFM1	HGNC	HGNC:10845	protein_coding	YES	CCDS75638.1	ENSP00000481021		B7ZVW6	UPI000189A9A3	NM_001201451.1	deleterious_low_confidence(0.01)		2/3																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	96486392	96486392	G	T	1	0	0	0	0	1	0	0	0	14538	971	34	2		2	SHFM1	7	96486392	Missense_Mutation	SNP	G	C3N-00704_TP	3048273	96486392	62859581	278	20775											
TMEM130	0	.	GRCh38	chr7	98855297	98855297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtctgaattagggtgggcCccaacacttggatgcctcga	9	9	13	10	1	1	1	0	1	1	0	2	3	1	2	3	4	2	0	3	4	3	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.746G>T	p.Gly249Val	p.G249V	ENST00000416379	5/8	92	76	16	93	93	0	strelka-varscan	TMEM130,missense_variant,p.Gly165Val,ENST00000450876,;TMEM130,missense_variant,p.Gly249Val,ENST00000339375,NM_152913.2;TMEM130,missense_variant,p.Gly249Val,ENST00000416379,NM_001134450.1;TMEM130,missense_variant,p.Gly147Val,ENST00000345589,NM_001134451.1;TMEM130,non_coding_transcript_exon_variant,,ENST00000461092,;TMEM130,downstream_gene_variant,,ENST00000486839,;	A	ENST00000416379	Transcript	missense_variant	751/2881	746/1308	249/435	G/V	gGg/gTg		1		-1	TMEM130	HGNC	HGNC:25429	protein_coding	YES	CCDS47650.1	ENSP00000413163	Q8N3G9		UPI000006EF2E	NM_001134450.1	deleterious(0.01)		5/8		hmmpanther:PTHR11861:SF10,hmmpanther:PTHR11861																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	98855297	98855297	C	A	1	0	0	0	0	1	0	0	0	16487	623	22	2		2	TMEM130	7	98855297	Missense_Mutation	SNP	C	C3N-00704_TP	2368905	98855297	60490676	279	20776											
MUC17	0	.	GRCh38	chr7	101033703	101033703	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgctgttgaccagttctGaggctagcaccctttcaaca	11	10	8	12	1	2	2	1	2	1	0	2	2	2	2	2	1	3	5	2	1	3	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2287G>T	p.Glu763Ter	p.E763*	ENST00000306151	3/13	96	76	20	123	122	1	strelka-varscan	MUC17,stop_gained,p.Glu763Ter,ENST00000306151,NM_001040105.1;MUC17,stop_gained,p.Glu763Ter,ENST00000379439,;	T	ENST00000306151	Transcript	stop_gained	2351/14247	2287/13482	763/4493	E/*	Gag/Tag		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1			3/13		Low_complexity_(Seg):seg,hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	63	101033703	101033703	G	T	1	0	0	0	0	0	1	0	0	9973	1291	45	2		2	MUC17	7	101033703	Nonsense_Mutation	SNP	G	C3N-00704_TP	2178406	101033703	58312270	280	20777											
RELN	0	.	GRCh38	chr7	103682180	103682180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttctgtggaaagatctaCatccctggtggtggcaaaat	11	12	10	8	0	3	1	0	0	3	1	4	2	4	2	1	4	1	1	1	4	4	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1225G>T	p.Val409Leu	p.V409L	ENST00000428762	11/65	517	461	56	549	549	0	strelka-varscan	RELN,missense_variant,p.Val409Leu,ENST00000424685,;RELN,missense_variant,p.Val409Leu,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Val409Leu,ENST00000343529,NM_173054.2;	A	ENST00000428762	Transcript	missense_variant	1385/11571	1225/10383	409/3460	V/L	Gta/Tta		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3	tolerated(0.25)		11/65		hmmpanther:PTHR11841																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	63	103682180	103682180	C	A	1	0	0	0	0	1	0	0	0	13390	478	17	2		2	RELN	7	103682180	Missense_Mutation	SNP	C	C3N-00704_TP	2648477	103682180	55663793	281	20778											
CDHR3	0	.	GRCh38	chr7	105981010	105981010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aactagattttgaaacaggaCcaaacatatttgatttgcag	16	12	7	6	0	0	3	0	2	0	1	0	4	0	4	1	1	4	1	1	1	5	6	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.292C>T	p.Pro98Ser	p.P98S	ENST00000317716	3/19	163	135	28	220	220	0	strelka-varscan	CDHR3,missense_variant,p.Pro98Ser,ENST00000317716,NM_152750.4;CDHR3,missense_variant,p.Pro10Ser,ENST00000478080,NM_001301161.1;CDHR3,non_coding_transcript_exon_variant,,ENST00000470188,;CDHR3,non_coding_transcript_exon_variant,,ENST00000461766,;CDHR3,missense_variant,p.Pro98Ser,ENST00000496633,;CDHR3,missense_variant,p.Pro10Ser,ENST00000488386,;	T	ENST00000317716	Transcript	missense_variant	372/3813	292/2658	98/885	P/S	Cca/Tca		1		1	CDHR3	HGNC	HGNC:26308	protein_coding	YES	CCDS47684.1	ENSP00000325954	Q6ZTQ4		UPI00001C0C6E	NM_152750.4	deleterious(0.01)		3/19		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF336,Gene3D:2.60.40.60,SMART_domains:SM00112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	105981010	105981010	C	T	1	0	0	0	0	1	0	0	0	2823	507	18	3		3	CDHR3	7	105981010	Missense_Mutation	SNP	C	C3N-00704_TP	2298830	105981010	53364963	282	20779											
SLC26A4	0	.	GRCh38	chr7	107674240	107674240	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaacactttctcgtatcCagcagcaatggaactgtatt	12	11	8	10	2	1	0	0	0	1	0	3	3	2	1	1	1	4	4	1	1	5	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.492C>A	p.=	p.S164S	ENST00000265715	5/21	256	229	27	353	353	0	strelka-varscan	SLC26A4,synonymous_variant,p.=,ENST00000265715,NM_000441.1;SLC26A4,downstream_gene_variant,,ENST00000440056,;	A	ENST00000265715	Transcript	synonymous_variant	716/4930	492/2343	164/780	S	tcC/tcA		1		1	SLC26A4	HGNC	HGNC:8818	protein_coding	YES	CCDS5746.1	ENSP00000265715	O43511		UPI00001315A4	NM_000441.1			5/21		Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF33,TIGRFAM_domain:TIGR00815																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	63	107674240	107674240	C	A	1	0	0	0	0	0	0	0	1	14789	581	21	2		2	SLC26A4	7	107674240	Silent	SNP	C	C3N-00704_TP	1693230	107674240	51671733	283	20780											
LAMB1	0	.	GRCh38	chr7	107986282	107986282	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaacgaggcctcacagtCataggcgaagtatctataca	14	8	10	9	2	3	0	2	0	1	0	3	3	3	1	1	3	2	1	1	3	6	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.505G>T	p.Asp169Tyr	p.D169Y	ENST00000222399	6/34	184	165	19	191	191	0	strelka-varscan	LAMB1,missense_variant,p.Asp193Tyr,ENST00000393561,;LAMB1,missense_variant,p.Asp169Tyr,ENST00000222399,NM_002291.2;LAMB1,missense_variant,p.Asp169Tyr,ENST00000393560,;	A	ENST00000222399	Transcript	missense_variant	736/5725	505/5361	169/1786	D/Y	Gac/Tac		1		-1	LAMB1	HGNC	HGNC:6486	protein_coding	YES	CCDS5750.1	ENSP00000222399	P07942		UPI00001AE63F	NM_002291.2	deleterious(0)		6/34		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF233,SMART_domains:SM00136																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	107986282	107986282	C	A	1	0	0	0	0	1	0	0	0	8514	826	29	2		2	LAMB1	7	107986282	Missense_Mutation	SNP	C	C3N-00704_TP	312042	107986282	51359691	284	20781											
PPP1R3A	0	.	GRCh38	chr7	113878346	113878346	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagtatgatgtttggaaaAaggagagctattctgaggag	13	12	13	3	0	2	3	1	2	1	1	2	6	2	5	0	3	1	3	0	3	4	5	rs370279511		C3N-00704_TP	C3N-00704_NB	A	A																c.2746T>A	p.Phe916Ile	p.F916I	ENST00000284601	4/4	129	111	18	273	273	0	strelka-varscan	PPP1R3A,missense_variant,p.Phe916Ile,ENST00000284601,NM_002711.3;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	T	ENST00000284601	Transcript	missense_variant	2815/4384	2746/3369	916/1122	F/I	Ttt/Att	rs370279511	1		-1	PPP1R3A	HGNC	HGNC:9291	protein_coding	YES	CCDS5759.1	ENSP00000284601	Q16821		UPI000013DDAA	NM_002711.3	tolerated(0.54)		4/4		hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	113878346	113878346	A	T	1	0	0	0	0	1	0	0	0	12492	14	1	4		4	PPP1R3A	7	113878346	Missense_Mutation	SNP	A	C3N-00704_TP	5892064	113878346	45467627	285	20782											
PPP1R3A	0	.	GRCh38	chr7	113918830	113918830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctagtacctgaagatgggGtatccaggtatatgtcttca	10	14	10	7	0	3	2	1	1	2	1	4	2	4	2	2	3	1	3	2	3	6	7	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.167C>A	p.Thr56Asn	p.T56N	ENST00000284601	1/4	218	184	34	290	290	0	strelka-varscan	PPP1R3A,missense_variant,p.Thr56Asn,ENST00000284601,NM_002711.3;PPP1R3A,intron_variant,,ENST00000449795,;PPP1R3A,missense_variant,p.Thr56Asn,ENST00000284602,;	T	ENST00000284601	Transcript	missense_variant	236/4384	167/3369	56/1122	T/N	aCc/aAc		1		-1	PPP1R3A	HGNC	HGNC:9291	protein_coding	YES	CCDS5759.1	ENSP00000284601	Q16821		UPI000013DDAA	NM_002711.3	tolerated(0.08)		1/4		hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	113918830	113918830	G	T	1	0	0	0	0	1	0	0	0	12492	1261	44	2		2	PPP1R3A	7	113918830	Missense_Mutation	SNP	G	C3N-00704_TP	40484	113918830	45427143	286	20783											
WNT2	0	.	GRCh38	chr7	117297834	117297834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagagtacatgagccgctcaCcccgtggcacttgcactctt	8	9	10	14	2	2	2	1	1	1	1	2	3	2	2	3	1	3	4	3	1	1	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.631G>T	p.Val211Leu	p.V211L	ENST00000265441	4/5	136	122	14	128	128	0	strelka-varscan	WNT2,missense_variant,p.Val211Leu,ENST00000265441,NM_003391.2;WNT2,missense_variant,p.Gly118Val,ENST00000491214,;AC002465.2,upstream_gene_variant,,ENST00000436097,;WNT2,3_prime_UTR_variant,,ENST00000449446,;	A	ENST00000265441	Transcript	missense_variant	931/2907	631/1083	211/360	V/L	Gtg/Ttg		1		-1	WNT2	HGNC	HGNC:12780	protein_coding	YES	CCDS5771.1	ENSP00000265441	P09544		UPI0000051044	NM_003391.2	deleterious(0)		4/5		hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF86,PROSITE_patterns:PS00246,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01349																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	117297834	117297834	C	A	1	0	0	0	0	1	0	0	0	17942	507	18	2		2	WNT2	7	117297834	Missense_Mutation	SNP	C	C3N-00704_TP	3379004	117297834	42048139	287	20784											
CCDC136	0	.	GRCh38	chr7	128812753	128812753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgatcaagctgcaggcgGtgcaggccatgtaccagata	10	8	13	10	1	1	2	1	1	0	1	1	2	1	2	2	3	5	5	2	3	3	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2587G>T	p.Val863Leu	p.V863L	ENST00000297788	14/18	373	334	39	413	413	0	strelka-varscan	CCDC136,missense_variant,p.Val863Leu,ENST00000297788,NM_022742.4;CCDC136,missense_variant,p.Val740Leu,ENST00000494552,;CCDC136,missense_variant,p.Val454Leu,ENST00000464672,;CCDC136,intron_variant,,ENST00000487361,;CCDC136,intron_variant,,ENST00000464832,;CCDC136,intron_variant,,ENST00000378685,NM_001201372.1;CCDC136,upstream_gene_variant,,ENST00000471729,;CCDC136,non_coding_transcript_exon_variant,,ENST00000480137,;CCDC136,intron_variant,,ENST00000528772,;CCDC136,downstream_gene_variant,,ENST00000485832,;CCDC136,downstream_gene_variant,,ENST00000460941,;	T	ENST00000297788	Transcript	missense_variant	2954/4169	2587/3465	863/1154	V/L	Gtg/Ttg		1		1	CCDC136	HGNC	HGNC:22225	protein_coding	YES	CCDS47704.1	ENSP00000297788	Q96JN2		UPI0000E445DE	NM_022742.4	tolerated(0.13)		14/18		hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF26,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	128812753	128812753	G	T	1	0	0	0	0	1	0	0	0	2459	1261	44	2		2	CCDC136	7	128812753	Missense_Mutation	SNP	G	C3N-00704_TP	11514919	128812753	30533220	288	20785											
FLNC	0	.	GRCh38	chr7	128854861	128854861	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaaagcggagattgcatttGaggatcgcaaagatggctcc	12	8	13	8	2	0	3	0	1	0	2	2	5	1	4	1	3	2	4	1	3	2	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.7084G>C	p.Glu2362Gln	p.E2362Q	ENST00000325888	42/48	595	527	68	667	667	0	strelka-varscan	FLNC,missense_variant,p.Glu2362Gln,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Glu2329Gln,ENST00000346177,NM_001127487.1;RP11-309L24.2,intron_variant,,ENST00000469965,;	C	ENST00000325888	Transcript	missense_variant	7345/9188	7084/8178	2362/2725	E/Q	Gag/Cag		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4	tolerated(0.23)		42/48		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	63	128854861	128854861	G	C	1	0	0	0	0	1	0	0	0	5791	1291	45	4		4	FLNC	7	128854861	Missense_Mutation	SNP	G	C3N-00704_TP	42108	128854861	30491112	289	20786											
FLNC	0	.	GRCh38	chr7	128857328	128857328	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcagccccttcaaggccaAggtcactggtgagtgccagt	8	7	14	12	0	2	1	2	1	0	0	2	1	2	1	4	4	2	1	4	4	2	1	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.7772A>T	p.Lys2591Met	p.K2591M	ENST00000325888	46/48	167	144	23	211	211	0	strelka-varscan	FLNC,missense_variant,p.Lys2591Met,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Lys2558Met,ENST00000346177,NM_001127487.1;RP11-309L24.2,intron_variant,,ENST00000469965,;	T	ENST00000325888	Transcript	missense_variant	8033/9188	7772/8178	2591/2725	K/M	aAg/aTg		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4	deleterious(0.01)		46/48		Gene3D:2.60.40.10,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	128857328	128857328	A	T	1	0	0	0	0	1	0	0	0	5791	72	3	4		4	FLNC	7	128857328	Missense_Mutation	SNP	A	C3N-00704_TP	2467	128857328	30488645	290	20787											
FAM180A	0	.	GRCh38	chr7	135734076	135734076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtccttctgatggccgtGggacagggctgtgcggtagg	5	10	18	8	2	1	1	0	1	1	0	2	3	2	2	2	5	1	2	2	5	1	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.421C>A	p.His141Asn	p.H141N	ENST00000338588	3/4	265	247	18	267	267	0	strelka-varscan	FAM180A,missense_variant,p.His141Asn,ENST00000338588,NM_205855.3;FAM180A,missense_variant,p.His141Asn,ENST00000415751,;SLC13A4,upstream_gene_variant,,ENST00000378428,;SLC13A4,upstream_gene_variant,,ENST00000422620,;FAM180A,intron_variant,,ENST00000435869,;FAM180A,missense_variant,p.His141Asn,ENST00000444083,;	T	ENST00000338588	Transcript	missense_variant	687/1800	421/522	141/173	H/N	Cac/Aac		1		-1	FAM180A	HGNC	HGNC:33773	protein_coding	YES	CCDS5841.1	ENSP00000342336	Q6UWF9		UPI0000035A01	NM_205855.3	tolerated(0.54)		3/4		hmmpanther:PTHR34034,hmmpanther:PTHR34034:SF2,Pfam_domain:PF15173																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	135734076	135734076	G	T	1	0	0	0	0	1	0	0	0	5352	1348	47	2		2	FAM180A	7	135734076	Missense_Mutation	SNP	G	C3N-00704_TP	6876748	135734076	23611897	291	20788											
KIAA1549	0	.	GRCh38	chr7	138917958	138917958	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgatgaccgagaaaaaTgcagtggtcacgctggatgg	11	8	15	7	2	1	3	1	2	0	1	1	5	1	4	1	4	1	2	1	4	2	0	rs771673550		C3N-00704_TP	C3N-00704_NB	T	T																c.1668A>T	p.=	p.A556A	ENST00000422774	2/20	126	115	11	148	148	0	strelka-varscan	KIAA1549,synonymous_variant,p.=,ENST00000440172,NM_020910.2;KIAA1549,synonymous_variant,p.=,ENST00000422774,NM_001164665.1;	A	ENST00000422774	Transcript	synonymous_variant	1717/6283	1668/5853	556/1950	A	gcA/gcT	rs771673550	1		-1	KIAA1549	HGNC	HGNC:22219	protein_coding	YES	CCDS56513.1	ENSP00000416040	Q9HCM3		UPI0001837EBD	NM_001164665.1			2/20		hmmpanther:PTHR21590:SF4,hmmpanther:PTHR21590																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	63	138917958	138917958	T	A	1	0	0	0	0	0	0	0	1	8120	1451	51	4		4	KIAA1549	7	138917958	Silent	SNP	T	C3N-00704_TP	3183882	138917958	20428015	292	20789											
TPK1	0	.	GRCh38	chr7	144548569	144548569	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggccacaccaatcaccctCcattccagtgtctacatgca	12	8	5	16	0	2	0	1	0	1	0	4	0	4	0	5	1	2	1	5	1	3	2	rs767663147		C3N-00704_TP	C3N-00704_NB	C	C																c.535G>T	p.Glu179Ter	p.E179*	ENST00000360057	8/9	299	223	76	309	309	0	strelka-varscan	TPK1,stop_gained,p.Glu179Ter,ENST00000360057,NM_022445.3;TPK1,stop_gained,p.Glu130Ter,ENST00000378099,NM_001042482.1;TPK1,stop_gained,p.Glu125Ter,ENST00000538212,;TPK1,non_coding_transcript_exon_variant,,ENST00000547966,;TPK1,non_coding_transcript_exon_variant,,ENST00000551062,;TPK1,3_prime_UTR_variant,,ENST00000482940,;TPK1,3_prime_UTR_variant,,ENST00000378098,;	A	ENST00000360057	Transcript	stop_gained	638/2439	535/732	179/243	E/*	Gag/Tag	rs767663147,COSM5553639,COSM5553640	1		-1	TPK1	HGNC	HGNC:17358	protein_coding	YES	CCDS5888.1	ENSP00000353165	Q9H3S4	A0A090N8Y0	UPI000004FD50	NM_022445.3			8/9		hmmpanther:PTHR13622,Pfam_domain:PF04265,PIRSF_domain:PIRSF031057,TIGRFAM_domain:TIGR01378,Gene3D:2.60.120.320,SMART_domains:SM00983,Superfamily_domains:SSF63862											0,1,1						HIGH	1	SNV	1		0,1,1	1										PASS		.	.												A	4	1	63	144548569	144548569	C	A	1	0	0	0	0	0	1	0	0	16885	864	30	2		2	TPK1	7	144548569	Nonsense_Mutation	SNP	C	C3N-00704_TP	5630611	144548569	14797404	293	20790											
CNTNAP2	0	.	GRCh38	chr7	146839844	146839844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gattgggtgacccaataccgGatgctctacagcgacacagg	11	7	12	11	2	1	1	0	1	1	0	1	4	1	2	2	3	4	1	2	3	3	3	rs748217915		C3N-00704_TP	C3N-00704_NB	G	G																c.342G>A	p.=	p.R114R	ENST00000361727	3/24	281	238	43	351	351	0	strelka-varscan	CNTNAP2,synonymous_variant,p.=,ENST00000361727,NM_014141.5;CNTNAP2,synonymous_variant,p.=,ENST00000625365,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637694,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636561,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637150,;	A	ENST00000361727	Transcript	synonymous_variant	860/9896	342/3996	114/1331	R	cgG/cgA	rs748217915	1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5			3/24		Gene3D:2.60.120.260,Pfam_domain:PF00754,PROSITE_profiles:PS50022,SMART_domains:SM00231,Superfamily_domains:SSF49785																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	63	146839844	146839844	G	A	1	0	0	0	0	0	0	0	1	3428	1161	41	3		3	CNTNAP2	7	146839844	Silent	SNP	G	C3N-00704_TP	2291275	146839844	12506129	294	20791											
CNTNAP2	0	.	GRCh38	chr7	147132284	147132284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgtggaaccctatacggtgCctgtctttttcaacgctaca	8	13	9	11	2	2	0	1	0	1	0	2	1	2	1	2	2	5	1	2	2	5	5	rs757993314		C3N-00704_TP	C3N-00704_NB	C	C																c.1123C>A	p.Pro375Thr	p.P375T	ENST00000361727	8/24	281	234	47	316	315	1	strelka-varscan	CNTNAP2,missense_variant,p.Pro375Thr,ENST00000361727,NM_014141.5;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637694,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637825,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636561,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637150,;	A	ENST00000361727	Transcript	missense_variant	1641/9896	1123/3996	375/1331	P/T	Cct/Act	rs757993314	1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	deleterious(0)		8/24		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	147132284	147132284	C	A	1	0	0	0	0	1	0	0	0	3428	739	26	2		2	CNTNAP2	7	147132284	Missense_Mutation	SNP	C	C3N-00704_TP	292440	147132284	12213689	295	20792											
SSPO	0	.	GRCh38	chr7	149787437	149787437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgtgtggtgactttGatggagatgccagtaatgat	8	13	15	5	0	0	4	0	3	0	1	0	5	0	4	1	3	1	2	1	3	1	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.3451G>T	p.Asp1151Tyr	p.D1151Y	ENST00000378016	23/107	118	106	12	123	123	0	strelka-varscan	SSPO,missense_variant,p.Asp1151Tyr,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,downstream_gene_variant,,ENST00000486824,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;SSPO,downstream_gene_variant,,ENST00000493502,;	T	ENST00000378016	Transcript	missense_variant	3451/15589	3451/15453	1151/5150	D/Y	Gat/Tat		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2	deleterious(0)		23/107		Pfam_domain:PF00094,SMART_domains:SM00216,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF294																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	149787437	149787437	G	T	1	0	0	0	0	1	0	0	0	15566	1290	45	2		2	SSPO	7	149787437	Missense_Mutation	SNP	G	C3N-00704_TP	2655153	149787437	9558536	296	20793											
SSPO	0	.	GRCh38	chr7	149804062	149804062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaccggcaggaactgcaGggctgccacacagtgtgtgg	8	6	17	10	1	0	1	0	1	0	0	0	2	0	2	2	5	3	3	2	5	1	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.8289G>T	p.Gln2763His	p.Q2763H	ENST00000378016	55/107	372	325	47	396	395	1	strelka-varscan	SSPO,missense_variant,p.Gln2763His,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,downstream_gene_variant,,ENST00000475488,;	T	ENST00000378016	Transcript	missense_variant	8289/15589	8289/15453	2763/5150	Q/H	caG/caT		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2	deleterious(0.01)		55/107		Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895,PROSITE_profiles:PS50092																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	149804062	149804062	G	T	1	0	0	0	0	1	0	0	0	15566	991	35	2		2	SSPO	7	149804062	Missense_Mutation	SNP	G	C3N-00704_TP	16625	149804062	9541911	297	20794											
GIMAP6	0	.	GRCh38	chr7	150628018	150628018	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagccgcaatggcgccGtgcaagggtcacatccagcc	9	6	13	13	3	1	1	1	1	0	0	2	1	2	1	4	2	3	3	4	2	3	1	rs151245597		C3N-00704_TP	C3N-00704_NB	G	G																c.790C>A	p.=	p.R264R	ENST00000618759	3/3	347	305	42	403	403	0	strelka-varscan	GIMAP6,synonymous_variant,p.=,ENST00000618759,NM_001244072.1;GIMAP6,synonymous_variant,p.=,ENST00000328902,NM_024711.5;GIMAP6,3_prime_UTR_variant,,ENST00000493969,NM_001244071.1;	T	ENST00000618759	Transcript	synonymous_variant	1270/3910	790/1089	264/362	R	Cgg/Agg	rs151245597	1		-1	GIMAP6	HGNC	HGNC:21918	protein_coding	YES	CCDS75676.1	ENSP00000479580		B4DH95	UPI00017A6DF2	NM_001244072.1			3/3		PROSITE_profiles:PS51720,hmmpanther:PTHR10903:SF51,hmmpanther:PTHR10903,Pfam_domain:PF04548,Gene3D:3.40.50.300																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	63	150628018	150628018	G	T	1	0	0	0	0	0	0	0	1	6263	1144	40	1		1	GIMAP6	7	150628018	Silent	SNP	G	C3N-00704_TP	823956	150628018	8717955	298	20795											
BLACE	0	.	GRCh38	chr7	155357912	155357912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcatgtgtacttcctccggGgctgctcggagccttccctc	3	11	11	16	3	0	0	0	0	0	0	5	1	3	1	4	3	3	4	4	3	1	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.268C>A	p.Pro90Thr	p.P90T	ENST00000378120	6/6	238	161	77	319	319	0	strelka-varscan	BLACE,missense_variant,p.Pro90Thr,ENST00000378120,;BLACE,missense_variant,p.Pro90Thr,ENST00000616210,;	T	ENST00000378120	Transcript	missense_variant	1529/2456	268/540	90/179	P/T	Ccc/Acc		1		-1	BLACE	HGNC	HGNC:20484	protein_coding	YES		ENSP00000367360	A4D250		UPI00002522B3				6/6																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	155357912	155357912	G	T	1	0	0	0	0	1	0	0	0	1593	1232	43	2		2	BLACE	7	155357912	Missense_Mutation	SNP	G	C3N-00704_TP	4729894	155357912	3988061	299	20796											
RP1L1	0	.	GRCh38	chr8	10623061	10623061	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacggccaggcggaccccAgcaaaccgtggatcccctcg	9	4	12	16	4	0	1	0	1	0	0	2	3	1	3	6	4	3	1	6	4	2	0	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.141T>A	p.=	p.A47A	ENST00000382483	2/4	220	167	53	313	313	0	strelka-varscan-mutect	RP1L1,synonymous_variant,p.=,ENST00000382483,NM_178857.5;RP1L1,non_coding_transcript_exon_variant,,ENST00000329335,;	T	ENST00000382483	Transcript	synonymous_variant	365/7973	141/7203	47/2400	A	gcT/gcA		1		-1	RP1L1	HGNC	HGNC:15946	protein_coding	YES	CCDS43708.1	ENSP00000371923		A6NKC6	UPI00001AF9CC	NM_178857.5			2/4		Gene3D:1mfwA00,PROSITE_profiles:PS50309,hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF3,SMART_domains:SM00537,Superfamily_domains:SSF89837																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	63	10623061	10623061	A	T	1	0	0	0	0	0	0	0	1	13773	175	7	4		4	RP1L1	8	10623061	Silent	SNP	A	C3N-00704_TP		10623061	134515575	300	20797											
PIWIL2	0	.	GRCh38	chr8	22315112	22315112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcagattaactgtaaattGggtggtgagctctggggagt	9	13	14	5	0	2	2	1	1	1	1	2	3	2	3	0	4	2	2	0	4	3	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2175G>T	p.Leu725Phe	p.L725F	ENST00000356766	18/23	99	92	7	133	133	0	strelka-varscan-mutect	PIWIL2,missense_variant,p.Leu725Phe,ENST00000356766,NM_018068.3;PIWIL2,missense_variant,p.Leu725Phe,ENST00000521356,;PIWIL2,missense_variant,p.Leu725Phe,ENST00000454009,NM_001135721.1;PIWIL2,missense_variant,p.Leu725Phe,ENST00000611073,;	T	ENST00000356766	Transcript	missense_variant	2323/5128	2175/2922	725/973	L/F	ttG/ttT		1		1	PIWIL2	HGNC	HGNC:17644	protein_coding	YES	CCDS6029.1	ENSP00000349208	Q8TC59	W0HK13	UPI000006E98E	NM_018068.3	deleterious(0)		18/23		Gene3D:3.40.50.2300,Pfam_domain:PF02171,PROSITE_profiles:PS50822,hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF47,SMART_domains:SM00950,Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	22315112	22315112	G	T	1	0	0	0	0	1	0	0	0	12054	1339	47	2		2	PIWIL2	8	22315112	Missense_Mutation	SNP	G	C3N-00704_TP	11692051	22315112	122823524	301	20798											
NUGGC	0	.	GRCh38	chr8	28047614	28047614	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagctggcagttttctcTgaagtgagagagtcacacag	11	10	12	8	0	3	3	2	2	1	1	4	4	3	3	0	1	1	3	0	1	1	2	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1207-2A>T		p.X403_splice	ENST00000413272		137	111	26	158	158	0	strelka-varscan	NUGGC,splice_acceptor_variant,,ENST00000413272,NM_001010906.1;	A	ENST00000413272	Transcript	splice_acceptor_variant	-/3887	1207/2391	403/796				1		-1	NUGGC	HGNC	HGNC:33550	protein_coding	YES	CCDS47833.1	ENSP00000408697	Q68CJ6		UPI0000237454	NM_001010906.1				10/18																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	63	28047614	28047614	T	A	1	0	0	0	0	0	0	1	0	10814	1594	55	4		4	NUGGC	8	28047614	Splice_Site	SNP	T	C3N-00704_TP	5732502	28047614	117091022	302	20799											
KCNU1	0	.	GRCh38	chr8	36806339	36806339	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagacatctttaccatccCaccaacctttatttcttatt	10	16	2	13	1	2	1	0	0	2	1	3	1	3	1	4	0	2	1	4	0	5	8	rs757612843		C3N-00704_TP	C3N-00704_NB	C	C																c.539C>A	p.Pro180Gln	p.P180Q	ENST00000399881	5/27	81	71	10	147	147	0	strelka-varscan	KCNU1,missense_variant,p.Pro180Gln,ENST00000399881,NM_001031836.2;KCNU1,missense_variant,p.Pro180Gln,ENST00000523973,;KCNU1,missense_variant,p.Pro180Gln,ENST00000522372,;KCNU1,3_prime_UTR_variant,,ENST00000522417,;	A	ENST00000399881	Transcript	missense_variant	576/3695	539/3450	180/1149	P/Q	cCa/cAa	rs757612843	1		1	KCNU1	HGNC	HGNC:18867	protein_coding	YES	CCDS55220.1	ENSP00000382770	A8MYU2		UPI0000F079EF	NM_001031836.2	deleterious(0)		5/27		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF23,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	63	36806339	36806339	C	A	1	0	0	0	0	1	0	0	0	8009	594	21	2		2	KCNU1	8	36806339	Missense_Mutation	SNP	C	C3N-00704_TP	8758725	36806339	108332297	303	20800											
PRKDC	0	.	GRCh38	chr8	47820718	47820718	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atatataatatatagtattaCctgcataaaactctgaatgc	17	14	4	6	0	1	1	0	1	1	0	1	1	1	1	1	0	4	2	1	0	11	9	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.9336+1G>T		p.X3112_splice	ENST00000314191		73	42	31	89	89	0	strelka-varscan	PRKDC,splice_donor_variant,,ENST00000314191,NM_006904.6;PRKDC,splice_donor_variant,,ENST00000338368,NM_001081640.1;	A	ENST00000314191	Transcript	splice_donor_variant	-/13509	9336/12387	3112/4128				1		-1	PRKDC	HGNC	HGNC:9413	protein_coding	YES	CCDS75735.1	ENSP00000313420	P78527		UPI0000013593	NM_006904.6				66/85																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	63	47820718	47820718	C	A	1	0	0	0	0	0	0	1	0	12654	521	18	2		2	PRKDC	8	47820718	Splice_Site	SNP	C	C3N-00704_TP	11014379	47820718	97317918	304	20801											
RP1	0	.	GRCh38	chr8	54720240	54720240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttggacttcagtcagatGggcaggcaaaaccaatgatt	12	11	11	7	0	2	2	2	1	0	1	2	3	2	3	1	3	1	3	1	3	3	4	rs770924118		C3N-00704_TP	C3N-00704_NB	G	G																c.2422G>T	p.Gly808Trp	p.G808W	ENST00000637698	15/29	283	192	91	317	317	0	strelka-varscan	RP1,missense_variant,p.Gly808Trp,ENST00000637698,;RP1,missense_variant,p.Gly775Trp,ENST00000636932,;	T	ENST00000637698	Transcript	missense_variant	2570/6177	2422/4251	808/1416	G/W	Ggg/Tgg	rs770924118	1		1	RP1	HGNC	HGNC:10263	protein_coding			ENSP00000490104					deleterious(0)		15/29		Gene3D:2.80.10.50,Superfamily_domains:SSF50353																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	63	54720240	54720240	G	T	1	0	0	0	0	1	0	0	0	13709	1348	47	2		2	RP1	8	54720240	Missense_Mutation	SNP	G	C3N-00704_TP	6899522	54720240	90418396	305	20802											
TRIM55	0	.	GRCh38	chr8	66127304	66127304	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattacaaatctttttccaaAgagcagcagaccatggataa	17	10	6	8	0	1	2	0	0	1	2	2	3	2	3	2	1	3	2	2	1	5	4	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.36A>G	p.=	p.K12K	ENST00000315962	1/10	196	131	65	218	218	0	strelka-varscan-mutect	TRIM55,synonymous_variant,p.=,ENST00000315962,NM_184085.1;TRIM55,synonymous_variant,p.=,ENST00000353317,NM_184086.1;TRIM55,synonymous_variant,p.=,ENST00000276573,NM_033058.2;TRIM55,synonymous_variant,p.=,ENST00000350034,NM_184087.1;	G	ENST00000315962	Transcript	synonymous_variant	409/2914	36/1647	12/548	K	aaA/aaG		1		1	TRIM55	HGNC	HGNC:14215	protein_coding	YES	CCDS6184.1	ENSP00000323913	Q9BYV6		UPI00001CE3B7	NM_184085.1			1/10		Gene3D:3.30.40.10																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	63	66127304	66127304	A	G	1	0	0	0	0	0	0	0	1	17022	69	3	5		5	TRIM55	8	66127304	Silent	SNP	A	C3N-00704_TP	11407064	66127304	79011332	306	20803											
C8orf44	0	.	GRCh38	chr8	66677815	66677815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcgaaaaccactggaaagGccgggcacggtggctcatgc	10	6	13	12	3	1	0	1	0	0	0	2	2	1	1	2	5	2	2	2	5	3	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.107G>A	p.Gly36Asp	p.G36D	ENST00000519561	2/3	142	122	20	141	141	0	strelka-varscan-mutect	C8orf44,missense_variant,p.Gly36Asp,ENST00000519561,NM_019607.2;C8orf44,missense_variant,p.Gly36Asp,ENST00000390159,;C8orf44,missense_variant,p.Gly36Asp,ENST00000521889,;C8orf44-SGK3,intron_variant,,ENST00000519289,NM_001204173.1;AC090154.1,upstream_gene_variant,,ENST00000623055,;C8orf44-SGK3,intron_variant,,ENST00000520044,;C8orf44,intron_variant,,ENST00000521113,;C8orf44,upstream_gene_variant,,ENST00000518860,;	A	ENST00000519561	Transcript	missense_variant	258/1835	107/480	36/159	G/D	gGc/gAc		1		1	C8orf44	HGNC	HGNC:25646	protein_coding	YES	CCDS6193.1	ENSP00000428002	Q96CB5	A0A024R7W3	UPI0000071799	NM_019607.2	deleterious_low_confidence(0.03)		2/3		hmmpanther:PTHR22878																	MODERATE	1	SNV	1			1										PASS		rs1300001346	.												A	3	1	63	66677815	66677815	G	A	1	0	0	0	0	1	0	0	0	2158	1203	42	3		3	C8orf44	8	66677815	Missense_Mutation	SNP	G	C3N-00704_TP	550511	66677815	78460821	307	20804											
ARFGEF1	0	.	GRCh38	chr8	67253493	67253493	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgttagttcttttgtttCtttcattgatatctttttcc	5	25	5	6	0	4	1	1	1	3	0	5	2	5	1	1	0	0	3	1	0	2	11	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2656G>T	p.Glu886Ter	p.E886*	ENST00000262215	18/39	64	58	6	132	132	0	strelka-varscan-mutect	ARFGEF1,stop_gained,p.Glu886Ter,ENST00000262215,NM_006421.4;ARFGEF1,stop_gained,p.Glu365Ter,ENST00000520381,;	A	ENST00000262215	Transcript	stop_gained	3046/7225	2656/5550	886/1849	E/*	Gaa/Taa		1		-1	ARFGEF1	HGNC	HGNC:15772	protein_coding	YES	CCDS6199.1	ENSP00000262215	Q9Y6D6	A0A024R7X0	UPI000013D275	NM_006421.4			18/39		Gene3D:1.10.1000.11																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	63	67253493	67253493	C	A	1	0	0	0	0	0	1	0	0	975	922	32	2		2	ARFGEF1	8	67253493	Nonsense_Mutation	SNP	C	C3N-00704_TP	575678	67253493	77885143	308	20805											
ZFHX4	0	.	GRCh38	chr8	76855344	76855344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagacttcatcgattaataCggcaatcagtgacgccacca	13	9	8	11	3	2	2	2	2	0	1	3	4	2	2	2	1	1	1	2	1	3	3	rs372591784		C3N-00704_TP	C3N-00704_NB	C	C																c.8423C>A	p.Thr2808Lys	p.T2808K	ENST00000521891	10/11	275	206	69	244	244	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Thr2808Lys,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Thr2782Lys,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	A	ENST00000521891	Transcript	missense_variant	8871/14019	8423/10851	2808/3616	T/K	aCg/aAg	rs372591784,COSM751704	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0)		10/11													0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs372591784	.												A	3	1	63	76855344	76855344	C	A	1	0	0	0	0	1	0	0	0	18213	536	19	1		1	ZFHX4	8	76855344	Missense_Mutation	SNP	C	C3N-00704_TP	9601851	76855344	68283292	309	20806											
CNBD1	0	.	GRCh38	chr8	87236967	87236967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaaaggcctagctcgacCtcaaacaaacgtgtataaaa	17	7	7	10	2	1	1	1	1	0	0	2	2	1	1	2	1	3	2	2	1	7	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.626C>A	p.Pro209His	p.P209H	ENST00000518476	6/11	91	57	34	129	129	0	strelka-varscan-mutect	CNBD1,missense_variant,p.Pro209His,ENST00000518476,NM_173538.2;CNBD1,missense_variant,p.Pro65His,ENST00000620844,;CNBD1,non_coding_transcript_exon_variant,,ENST00000522427,;CNBD1,non_coding_transcript_exon_variant,,ENST00000522105,;	A	ENST00000518476	Transcript	missense_variant	677/1594	626/1311	209/436	P/H	cCt/cAt		1		1	CNBD1	HGNC	HGNC:26663	protein_coding	YES	CCDS55259.1	ENSP00000430073	Q8NA66		UPI000006EA68	NM_173538.2	deleterious(0)		6/11		hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF142,Gene3D:2.60.120.10,Superfamily_domains:SSF51206																	MODERATE	1	SNV	1			1										PASS		rs1398916303	.												A	3	1	63	87236967	87236967	C	A	1	0	0	0	0	1	0	0	0	3369	681	24	2		2	CNBD1	8	87236967	Missense_Mutation	SNP	C	C3N-00704_TP	10381623	87236967	57901669	310	20807											
CNBD1	0	.	GRCh38	chr8	87284796	87284796	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcttaaaatcccagcaaaggGatatgcaaagataaaggagg	18	7	10	6	0	1	1	0	0	1	1	2	3	2	3	1	3	2	2	1	3	7	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.890G>C	p.Gly297Ala	p.G297A	ENST00000518476	7/11	129	85	44	123	123	0	strelka-varscan-mutect	CNBD1,missense_variant,p.Gly297Ala,ENST00000518476,NM_173538.2;CNBD1,missense_variant,p.Gly153Ala,ENST00000620844,;CNBD1,upstream_gene_variant,,ENST00000523299,;CNBD1,downstream_gene_variant,,ENST00000522427,;	C	ENST00000518476	Transcript	missense_variant	941/1594	890/1311	297/436	G/A	gGa/gCa		1		1	CNBD1	HGNC	HGNC:26663	protein_coding	YES	CCDS55259.1	ENSP00000430073	Q8NA66		UPI000006EA68	NM_173538.2	tolerated(0.08)		7/11		hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF142,Gene3D:2.60.120.10,Superfamily_domains:SSF51206																	MODERATE	1	SNV	1			1										PASS		rs1401217594	.												C	3	2	63	87284796	87284796	G	C	1	0	0	0	0	1	0	0	0	3369	1174	41	4		4	CNBD1	8	87284796	Missense_Mutation	SNP	G	C3N-00704_TP	47829	87284796	57853840	311	20808											
SNX31	0	.	GRCh38	chr8	100600396	100600396	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctaatttctgcctctGtgcctgtgtgggtttggccc	3	16	11	11	0	3	0	0	0	3	0	3	0	3	0	3	2	3	2	3	2	1	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.727C>G	p.Gln243Glu	p.Q243E	ENST00000311812	9/14	255	178	77	323	323	0	strelka-varscan-mutect	SNX31,missense_variant,p.Gln243Glu,ENST00000311812,NM_152628.3;SNX31,missense_variant,p.Gln144Glu,ENST00000428383,;SNX31,upstream_gene_variant,,ENST00000519521,;	C	ENST00000311812	Transcript	missense_variant	878/2457	727/1323	243/440	Q/E	Cag/Gag		1		-1	SNX31	HGNC	HGNC:28605	protein_coding	YES	CCDS6288.1	ENSP00000312368	Q8N9S9		UPI000004A790	NM_152628.3	deleterious(0.01)		9/14		hmmpanther:PTHR12431,hmmpanther:PTHR12431:SF15																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	63	100600396	100600396	G	C	1	0	0	0	0	1	0	0	0	15222	1386	48	4		4	SNX31	8	100600396	Missense_Mutation	SNP	G	C3N-00704_TP	13315600	100600396	44538240	312	20809											
DCAF13	0	.	GRCh38	chr8	103427288	103427288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtatgttttacttattatGgcttaataatttcagttctg	11	20	6	4	0	2	0	1	0	1	0	2	0	2	0	0	1	1	4	0	1	7	9	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.552G>T	p.Met184Ile	p.M184I	ENST00000521971	4/4	62	40	22	82	82	0	strelka-varscan-mutect	DCAF13,missense_variant,p.Met184Ile,ENST00000521971,;DCAF13,missense_variant,p.Met220Ile,ENST00000519682,;DCAF13,3_prime_UTR_variant,,ENST00000618975,;DCAF13,intron_variant,,ENST00000297579,NM_015420.6;DCAF13,intron_variant,,ENST00000616836,;DCAF13,intron_variant,,ENST00000612750,;DCAF13,intron_variant,,ENST00000521999,;DCAF13,non_coding_transcript_exon_variant,,ENST00000518554,;	T	ENST00000521971	Transcript	missense_variant	620/2049	552/558	184/185	M/I	atG/atT		1		1	DCAF13	HGNC	HGNC:24535	protein_coding			ENSP00000430883		E5RHM4	UPI0004620AB6				4/4																			MODERATE		SNV	5			1										PASS		.	.												T	3	4	63	103427288	103427288	G	T	1	0	0	0	0	1	0	0	0	4067	1348	47	2		2	DCAF13	8	103427288	Missense_Mutation	SNP	G	C3N-00704_TP	2826892	103427288	41711348	313	20810											
RIMS2	0	.	GRCh38	chr8	104013564	104013564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgatacaaacctcatgaGgtcgatgccttcattaatga	12	12	7	10	1	2	3	2	3	0	0	4	4	3	3	3	1	3	0	3	1	3	3	rs542594833		C3N-00704_TP	C3N-00704_NB	G	G																c.3167G>T	p.Arg1056Met	p.R1056M	ENST00000504942	18/24	255	213	42	251	251	0	strelka-varscan-mutect	RIMS2,missense_variant,p.Arg870Met,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Arg1056Met,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Arg998Met,ENST00000626043,;RIMS2,missense_variant,p.Arg870Met,ENST00000408894,;RIMS2,missense_variant,p.Arg895Met,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Arg1066Met,ENST00000632716,;RIMS2,intron_variant,,ENST00000436393,;	T	ENST00000504942	Transcript	missense_variant	3306/4228	3167/4050	1056/1349	R/M	aGg/aTg	rs542594833	1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0.01)		18/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15																	MODERATE	1	SNV	2			1										PASS		rs542594833	.												T	3	4	63	104013564	104013564	G	T	1	0	0	0	0	1	0	0	0	13543	1000	35	2		2	RIMS2	8	104013564	Missense_Mutation	SNP	G	C3N-00704_TP	586276	104013564	41125072	314	20811											
ABRA	0	.	GRCh38	chr8	106769590	106769590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctgctcgggcctctcctCagcctctcctccatagccgc	4	10	7	20	2	3	0	1	0	2	0	8	0	5	0	7	1	3	1	7	1	1	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.601G>A	p.Glu201Lys	p.E201K	ENST00000311955	1/2	244	211	33	259	259	0	strelka-varscan-mutect	ABRA,missense_variant,p.Glu201Lys,ENST00000311955,NM_139166.4;	T	ENST00000311955	Transcript	missense_variant	656/2755	601/1146	201/381	E/K	Gag/Aag		1		-1	ABRA	HGNC	HGNC:30655	protein_coding	YES	CCDS6305.1	ENSP00000311436	Q8N0Z2		UPI000006F0DE	NM_139166.4	tolerated(0.1)		1/2		hmmpanther:PTHR22739,hmmpanther:PTHR22739:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	106769590	106769590	C	T	1	0	0	0	0	1	0	0	0	109	835	29	3		3	ABRA	8	106769590	Missense_Mutation	SNP	C	C3N-00704_TP	2756026	106769590	38369046	315	20812											
EIF3E	0	.	GRCh38	chr8	108248673	108248673	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccgatccaaaaagtgcgcGatgcgagtagtcaagtcgta	12	8	12	9	5	1	0	1	0	0	0	3	3	2	0	2	0	3	2	2	0	5	2			C3N-00704_TP	C3N-00704_NB	G	G																c.30C>T	p.=	p.I10I	ENST00000220849	1/13	233	204	29	214	214	0	strelka-varscan-mutect	EIF3E,synonymous_variant,p.=,ENST00000220849,NM_001568.2;EIF3E,synonymous_variant,p.=,ENST00000521440,;EIF3E,synonymous_variant,p.=,ENST00000519627,;EIF3E,5_prime_UTR_variant,,ENST00000519030,;EIF3E,5_prime_UTR_variant,,ENST00000518345,;EIF3E,upstream_gene_variant,,ENST00000521297,;EIF3E,intron_variant,,ENST00000518634,;EIF3E,synonymous_variant,p.=,ENST00000522445,;EIF3E,synonymous_variant,p.=,ENST00000518100,;EIF3E,synonymous_variant,p.=,ENST00000522887,;EIF3E,non_coding_transcript_exon_variant,,ENST00000518442,;	A	ENST00000220849	Transcript	synonymous_variant	93/1543	30/1338	10/445	I	atC/atT	COSM219636,COSM3271560,COSM453840	1		-1	EIF3E	HGNC	HGNC:3277	protein_coding	YES	CCDS6308.1	ENSP00000220849	P60228		UPI0000000C92	NM_001568.2			1/13		HAMAP:MF_03004,Pfam_domain:PF09440,PIRSF_domain:PIRSF016255,hmmpanther:PTHR10317,hmmpanther:PTHR10317:SF1,SMART_domains:SM01186											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												A	2	1	63	108248673	108248673	G	A	1	0	0	0	0	0	0	0	1	4849	1048	37	1		1	EIF3E	8	108248673	Silent	SNP	G	C3N-00704_TP	1479083	108248673	36889963	316	20813											
CSMD3	0	.	GRCh38	chr8	112636932	112636933	+	Frame_Shift_Ins	INS	-	-	T																															agaaggtcagagtgtcaccaINSatcccaaagttgaacccgat																								novel		C3N-00704_TP	C3N-00704_NB	-	-																c.3599_3600insA	p.Gly1201TrpfsTer2	p.G1201Wfs*2	ENST00000297405	22/71	615	555	60	508	508	0	sindel-varindel-pindel	CSMD3,frameshift_variant,p.Gly1201TrpfsTer2,ENST00000297405,NM_198123.1;CSMD3,frameshift_variant,p.Gly1161TrpfsTer2,ENST00000343508,NM_198124.1;CSMD3,frameshift_variant,p.Gly1097TrpfsTer2,ENST00000455883,NM_052900.2;CSMD3,frameshift_variant,p.Gly541TrpfsTer2,ENST00000339701,;	T	ENST00000297405	Transcript	frameshift_variant	3844-3845/13212	3599-3600/11124	1200/3707	I/IX	att/atAt		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			22/71		PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	63	112636932	112636932	-	T	1	0	1	1	0	0	0	0	0	3747	126	5	0		0	CSMD3	8	112636932	Frame_Shift_Ins	INS	-	C3N-00704_TP	4388259	112636932	32501704	317	20814											
COLEC10	0	.	GRCh38	chr8	119067418	119067418	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacacacacaatttcacCaggacccaaaggtgaggaaa	16	5	8	12	0	1	1	1	1	0	0	1	3	1	3	3	3	1	0	3	3	3	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.137C>A	p.Pro46Gln	p.P46Q	ENST00000332843	1/6	233	206	27	159	159	0	strelka-varscan-mutect	COLEC10,missense_variant,p.Pro46Gln,ENST00000332843,NM_006438.3;RP11-278I4.2,intron_variant,,ENST00000518362,;COLEC10,intron_variant,,ENST00000521788,;	A	ENST00000332843	Transcript	missense_variant	178/1266	137/834	46/277	P/Q	cCa/cAa		1		1	COLEC10	HGNC	HGNC:2220	protein_coding	YES	CCDS6327.1	ENSP00000332723	Q9Y6Z7	A0A024R9J3	UPI00001B01DD	NM_006438.3	deleterious(0)		1/6		Low_complexity_(Seg):seg,hmmpanther:PTHR24024,hmmpanther:PTHR24024:SF20,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	119067418	119067418	C	A	1	0	0	0	0	1	0	0	0	3500	594	21	2		2	COLEC10	8	119067418	Missense_Mutation	SNP	C	C3N-00704_TP	6430486	119067418	26071218	318	20815											
ADCY8	0	.	GRCh38	chr8	130867900	130867900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaatagaagaacgataaatGcacagaccaagtttgacttg	18	9	8	6	1	0	4	0	1	0	3	0	5	0	4	1	0	2	2	1	0	8	5	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2156C>A	p.Ala719Glu	p.A719E	ENST00000286355	9/18	145	96	49	192	191	1	strelka-varscan-mutect	ADCY8,missense_variant,p.Ala719Glu,ENST00000286355,NM_001115.2;ADCY8,intron_variant,,ENST00000377928,;	T	ENST00000286355	Transcript	missense_variant	4249/5938	2156/3756	719/1251	A/E	gCa/gAa		1		-1	ADCY8	HGNC	HGNC:239	protein_coding	YES	CCDS6363.1	ENSP00000286355	P40145	A0A0K0K1K3	UPI000012887C	NM_001115.2	deleterious(0)		9/18		Transmembrane_helices:TMhelix,hmmpanther:PTHR11920:SF320,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050																	MODERATE	1	SNV	1			1										PASS		rs1023661733	.												T	3	4	63	130867900	130867900	G	T	1	0	0	0	0	1	0	0	0	344	1319	46	2		2	ADCY8	8	130867900	Missense_Mutation	SNP	G	C3N-00704_TP	11800482	130867900	14270736	319	20816											
LRRC6	0	.	GRCh38	chr8	132611357	132611357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcgattaaagaggtatcCatataccttcaaaattaaac	18	11	4	8	1	1	1	1	0	0	1	3	2	2	1	2	1	2	1	2	1	9	6			C3N-00704_TP	C3N-00704_NB	C	C																c.981G>T	p.Met327Ile	p.M327I	ENST00000620350	9/12	115	79	36	131	131	0	strelka-varscan-mutect	LRRC6,missense_variant,p.Met327Ile,ENST00000620350,NM_012472.4;LRRC6,missense_variant,p.Met327Ile,ENST00000618342,;LRRC6,missense_variant,p.Met327Ile,ENST00000519595,;LRRC6,missense_variant,p.Met327Ile,ENST00000518642,;LRRC6,missense_variant,p.Met327Ile,ENST00000250173,;LRRC6,missense_variant,p.Met67Ile,ENST00000522789,;LRRC6,missense_variant,p.Met49Ile,ENST00000519085,;LRRC6,non_coding_transcript_exon_variant,,ENST00000522597,;	A	ENST00000620350	Transcript	missense_variant	1105/1878	981/1401	327/466	M/I	atG/atT	COSM749300	1		-1	LRRC6	HGNC	HGNC:16725	protein_coding	YES	CCDS6365.1	ENSP00000484634	Q86X45		UPI000000DBC5	NM_012472.4	deleterious(0.01)		9/12		PROSITE_profiles:PS51203											1						MODERATE	1	SNV	1		1	1										PASS		rs1480173229	.												A	3	1	63	132611357	132611357	C	A	1	0	0	0	0	1	0	0	0	8911	594	21	2		2	LRRC6	8	132611357	Missense_Mutation	SNP	C	C3N-00704_TP	1743457	132611357	12527279	320	20817											
FAM135B	0	.	GRCh38	chr8	138152738	138152738	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatacttatctctagagctCctactctcatgctgagcatt	9	14	5	13	0	2	2	1	1	2	1	5	2	3	2	2	0	5	3	2	0	4	5	rs752946476		C3N-00704_TP	C3N-00704_NB	C	C																c.1737G>T	p.Arg579Ser	p.R579S	ENST00000395297	13/20	280	168	112	273	270	3	strelka-varscan-mutect	FAM135B,missense_variant,p.Arg579Ser,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Arg579Ser,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000467365,;FAM135B,upstream_gene_variant,,ENST00000395295,;	A	ENST00000395297	Transcript	missense_variant	1908/6962	1737/4221	579/1406	R/S	agG/agT	rs752946476,COSM4530890,COSM4530891,COSM5688597,COSM5688598	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	tolerated(0.64)		13/20													0,1,1,1,1						MODERATE	1	SNV	5		0,1,1,1,1	1										PASS		rs752946476	.												A	3	1	63	138152738	138152738	C	A	1	0	0	0	0	1	0	0	0	5299	854	30	2		2	FAM135B	8	138152738	Missense_Mutation	SNP	C	C3N-00704_TP	5541381	138152738	6985898	321	20818											
FAM135B	0	.	GRCh38	chr8	138367941	138367941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccacattataaaatttatGtagctctaccgaaaactcaa	17	12	3	9	1	2	0	1	0	1	0	3	1	3	0	2	0	3	2	2	0	9	6			C3N-00704_TP	C3N-00704_NB	G	G																c.43C>A	p.His15Asn	p.H15N	ENST00000395297	2/20	136	94	42	167	167	0	strelka-varscan-mutect	FAM135B,missense_variant,p.His15Asn,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.His15Asn,ENST00000520380,;FAM135B,missense_variant,p.His15Asn,ENST00000160713,;FAM135B,non_coding_transcript_exon_variant,,ENST00000517849,;FAM135B,missense_variant,p.His15Asn,ENST00000482951,;FAM135B,missense_variant,p.His15Asn,ENST00000276737,;	T	ENST00000395297	Transcript	missense_variant	214/6962	43/4221	15/1406	H/N	Cat/Aat	COSM604305,COSM604306	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	tolerated(0.19)		2/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	63	138367941	138367941	G	T	1	0	0	0	0	1	0	0	0	5299	1377	48	2		2	FAM135B	8	138367941	Missense_Mutation	SNP	G	C3N-00704_TP	215203	138367941	6770695	322	20819											
ADGRB1	0	.	GRCh38	chr8	142464651	142464651	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcggcgccagcagccgccCcagcacgacgggctccggcc	6	2	14	19	6	0	0	0	0	0	0	1	1	1	0	6	3	4	3	6	3	0	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.453C>A	p.=	p.P151P	ENST00000517894	2/31	179	147	32	196	196	0	strelka-varscan-mutect	ADGRB1,synonymous_variant,p.=,ENST00000517894,;ADGRB1,synonymous_variant,p.=,ENST00000323289,NM_001702.2;ADGRB1,synonymous_variant,p.=,ENST00000521208,;	A	ENST00000517894	Transcript	synonymous_variant	1347/6241	453/4755	151/1584	P	ccC/ccA		1		1	ADGRB1	HGNC	HGNC:943	protein_coding	YES	CCDS64985.1	ENSP00000430945	O14514		UPI00002109E8				2/31																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	63	142464651	142464651	C	A	1	0	0	0	0	0	0	0	1	355	610	22	2		2	ADGRB1	8	142464651	Silent	SNP	C	C3N-00704_TP	4096710	142464651	2673985	323	20820											
ADCK5	0	.	GRCh38	chr8	144392265	144392265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacacccagggaccgcgcagCcctctgccagctgtggcggg	6	4	14	17	3	1	0	0	0	1	0	1	1	1	1	4	3	3	2	4	3	0	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1187C>A	p.Ala396Asp	p.A396D	ENST00000308860	12/15	102	88	14	113	113	0	strelka-varscan-mutect	ADCK5,missense_variant,p.Ala396Asp,ENST00000308860,NM_174922.4;CPSF1,downstream_gene_variant,,ENST00000616140,NM_013291.2;CPSF1,downstream_gene_variant,,ENST00000620219,;CPSF1,downstream_gene_variant,,ENST00000531727,;CPSF1,downstream_gene_variant,,ENST00000532935,;CPSF1,downstream_gene_variant,,ENST00000401314,;ADCK5,downstream_gene_variant,,ENST00000526231,;ADCK5,downstream_gene_variant,,ENST00000534714,;ADCK5,3_prime_UTR_variant,,ENST00000529654,;ADCK5,downstream_gene_variant,,ENST00000533715,;CPSF1,downstream_gene_variant,,ENST00000531480,;CPSF1,downstream_gene_variant,,ENST00000526271,;ADCK5,downstream_gene_variant,,ENST00000526833,;CPSF1,downstream_gene_variant,,ENST00000527827,;CPSF1,downstream_gene_variant,,ENST00000532725,;ADCK5,downstream_gene_variant,,ENST00000532190,;CPSF1,downstream_gene_variant,,ENST00000529288,;CPSF1,downstream_gene_variant,,ENST00000531042,;	A	ENST00000308860	Transcript	missense_variant	1231/1949	1187/1743	396/580	A/D	gCc/gAc		1		1	ADCK5	HGNC	HGNC:21738	protein_coding	YES	CCDS34965.2	ENSP00000310547	Q3MIX3		UPI00005B7249	NM_174922.4	deleterious(0.04)		12/15		hmmpanther:PTHR10566,hmmpanther:PTHR10566:SF59,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	144392265	144392265	C	A	1	0	0	0	0	1	0	0	0	335	739	26	2		2	ADCK5	8	144392265	Missense_Mutation	SNP	C	C3N-00704_TP	1927614	144392265	746371	324	20821											
ARHGAP39	0	.	GRCh38	chr8	144548115	144548115	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggggggctcatcgtagAtgggggcctggtactccact	6	9	15	11	1	1	1	1	0	0	1	3	1	2	1	3	6	1	3	3	6	2	2	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.971T>A	p.Ile324Asn	p.I324N	ENST00000377307	4/11	51	45	6	55	55	0	strelka-varscan-mutect	ARHGAP39,missense_variant,p.Ile324Asn,ENST00000276826,NM_001308208.1,NM_001308207.1;ARHGAP39,missense_variant,p.Ile324Asn,ENST00000377307,NM_025251.1;ARHGAP39,upstream_gene_variant,,ENST00000528810,;	T	ENST00000377307	Transcript	missense_variant	1056/4673	971/3345	324/1114	I/N	aTc/aAc		1		-1	ARHGAP39	HGNC	HGNC:29351	protein_coding	YES	CCDS34971.1	ENSP00000366522	Q9C0H5		UPI000021015B	NM_025251.1	deleterious(0)		4/11		hmmpanther:PTHR23177,hmmpanther:PTHR23177:SF9																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	144548115	144548115	A	T	1	0	0	0	0	1	0	0	0	1010	333	12	4		4	ARHGAP39	8	144548115	Missense_Mutation	SNP	A	C3N-00704_TP	155850	144548115	590521	325	20822											
DOCK8	0	.	GRCh38	chr9	434937	434937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtatctgagcatgctggagGaccacagctacctgcccgtg	9	8	12	12	1	1	1	0	1	1	0	1	3	1	3	3	2	5	4	3	2	2	2			C3N-00704_TP	C3N-00704_NB	G	G																c.5041G>T	p.Asp1681Tyr	p.D1681Y	ENST00000432829	39/48	340	276	64	387	387	0	strelka-varscan-mutect	DOCK8,missense_variant,p.Asp1681Tyr,ENST00000432829,NM_203447.3;DOCK8,missense_variant,p.Asp1613Tyr,ENST00000453981,NM_001193536.1;DOCK8,missense_variant,p.Asp1581Tyr,ENST00000469391,NM_001190458.1;DOCK8,missense_variant,p.Asp1148Tyr,ENST00000382329,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;	T	ENST00000432829	Transcript	missense_variant	5153/7452	5041/6300	1681/2099	D/Y	Gac/Tac	COSM1319592,COSM1319593	1		1	DOCK8	HGNC	HGNC:19191	protein_coding	YES	CCDS6440.2	ENSP00000394888	Q8NF50		UPI0000E0B9E5	NM_203447.3	deleterious(0)		39/48		PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF74,Pfam_domain:PF06920											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	63	434937	434937	G	T	1	0	0	0	0	1	0	0	0	4508	1174	41	2		2	DOCK8	9	434937	Missense_Mutation	SNP	G	C3N-00704_TP		434937	137959780	326	20823											
KANK1	0	.	GRCh38	chr9	713397	713397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtctatcaactctgtcatGaaatctgcaagcactgaaga	13	11	7	10	1	5	3	2	2	3	1	6	3	5	3	0	0	3	2	0	0	5	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2631G>A	p.Met877Ile	p.M877I	ENST00000619269	4/13	103	96	7	112	112	0	strelka-varscan-mutect	KANK1,missense_variant,p.Met877Ile,ENST00000619269,NM_001256877.1;KANK1,missense_variant,p.Met877Ile,ENST00000382303,NM_001256876.1;KANK1,missense_variant,p.Met719Ile,ENST00000382293,NM_153186.4;KANK1,missense_variant,p.Met877Ile,ENST00000382297,NM_015158.3;KANK1,non_coding_transcript_exon_variant,,ENST00000489369,;KANK1,non_coding_transcript_exon_variant,,ENST00000354485,;	A	ENST00000619269	Transcript	missense_variant	3389/5688	2631/4059	877/1352	M/I	atG/atA		1		1	KANK1	HGNC	HGNC:19309	protein_coding	YES	CCDS34976.1	ENSP00000477725	Q14678		UPI00001AF26E	NM_001256877.1	tolerated(0.07)		4/13		hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF19																	MODERATE	1	SNV	5			1										PASS		rs1014868984	.												A	3	1	63	713397	713397	G	A	1	0	0	0	0	1	0	0	0	7885	1290	45	3		3	KANK1	9	713397	Missense_Mutation	SNP	G	C3N-00704_TP	278460	713397	137681320	327	20824											
UHRF2	0	.	GRCh38	chr9	6460791	6460791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgtgtgaaaattttcctggGgtaagattgtcttcactggt	8	16	11	6	1	2	2	1	1	1	1	4	2	3	2	1	3	0	1	1	3	3	5	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.863G>T	p.Gly288Val	p.G288V	ENST00000276893	4/16	61	47	14	123	123	0	strelka-varscan-mutect	UHRF2,missense_variant,p.Gly288Val,ENST00000276893,NM_152896.2;UHRF2,missense_variant,p.Gly65Val,ENST00000450508,;UHRF2,downstream_gene_variant,,ENST00000481049,;UHRF2,missense_variant,p.Gly288Val,ENST00000468435,;UHRF2,splice_region_variant,,ENST00000484159,;	T	ENST00000276893	Transcript	missense_variant,splice_region_variant	1031/3452	863/2409	288/802	G/V	gGg/gTg		1		1	UHRF2	HGNC	HGNC:12557	protein_coding	YES	CCDS6469.1	ENSP00000276893	Q96PU4		UPI000006E524	NM_152896.2	deleterious(0)		4/16		hmmpanther:PTHR14140:SF3,hmmpanther:PTHR14140,Pfam_domain:PF12148,Gene3D:2.30.30.30																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	6460791	6460791	G	T	1	0	0	0	0	1	0	0	0	17494	1246	43	2		2	UHRF2	9	6460791	Missense_Mutation	SNP	G	C3N-00704_TP	5747394	6460791	131933926	328	20825											
AL513412.1	0	.	GRCh38	chr9	6990415	6990415	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatttttgttctataactaGatagcagagggagagaacaa	15	11	9	6	0	1	3	0	0	1	3	1	5	1	4	1	1	3	2	1	1	6	7	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1678-1G>C		p.X560_splice	ENST00000381309		290	248	42	324	324	0	strelka-varscan-mutect	KDM4C,splice_acceptor_variant,,ENST00000381309,NM_015061.3,NM_001304340.1,NM_001304339.1;KDM4C,splice_acceptor_variant,,ENST00000381306,;RP11-146B14.1,splice_acceptor_variant,,ENST00000536108,;KDM4C,splice_acceptor_variant,,ENST00000543771,NM_001146695.1;KDM4C,splice_acceptor_variant,,ENST00000428870,;AL513412.1,splice_acceptor_variant,,ENST00000535193,NM_001146696.1;KDM4C,downstream_gene_variant,,ENST00000494570,;KDM4C,splice_acceptor_variant,,ENST00000438023,;	C	ENST00000381309	Transcript	splice_acceptor_variant	-/4655	1678/3171	560/1056				1		1	KDM4C	HGNC	HGNC:17071	protein_coding	YES	CCDS6471.1	ENSP00000370710	Q9H3R0		UPI0000367602	NM_015061.3,NM_001304340.1,NM_001304339.1				11/21																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	63	6990415	6990415	G	C	1	0	0	0	0	0	0	1	0	581	956	33	4		4	AL513412.1	9	6990415	Splice_Site	SNP	G	C3N-00704_TP	529624	6990415	131404302	329	20826											
SNAPC3	0	.	GRCh38	chr9	15423052	15423052	+	Frame_Shift_Del	DEL	C	C	-																															gcggggccgtctgcgcggggCcggggacttgtcgctgaggg																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.174delC	p.Asp60ThrfsTer4	p.D60Tfs*4	ENST00000380821	1/9	51	46	5	70	70	0	varindel-pindel	SNAPC3,frameshift_variant,p.Asp60ThrfsTer4,ENST00000380821,NM_001039697.1;SNAPC3,frameshift_variant,p.Asp60ThrfsTer4,ENST00000610884,;SNAPC3,frameshift_variant,p.Asp60ThrfsTer4,ENST00000421710,;SNAPC3,upstream_gene_variant,,ENST00000461041,;SNAPC3,frameshift_variant,p.Asp60ThrfsTer4,ENST00000467062,;SNAPC3,frameshift_variant,p.Asp60ThrfsTer4,ENST00000490969,;	-	ENST00000380821	Transcript	frameshift_variant	349/5680	173/1236	58/411	A/X	gCc/gc		1		1	SNAPC3	HGNC	HGNC:11136	protein_coding	YES	CCDS6478.1	ENSP00000370200	Q92966		UPI0000135B24	NM_001039697.1			1/9		hmmpanther:PTHR13421,hmmpanther:PTHR13421:SF16																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	63	15423052	15423052	C	-	1	0	1	0	1	0	0	0	0	15157	739	26	0		0	SNAPC3	9	15423052	Frame_Shift_Del	DEL	C	C3N-00704_TP	8432637	15423052	122971665	330	20827											
CCDC171	0	.	GRCh38	chr9	15784638	15784638	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaattgaattataaacttGaattgcactccagtgaggaa	16	11	9	5	0	0	3	0	3	0	0	1	5	1	5	1	2	2	1	1	2	7	5	rs761945690		C3N-00704_TP	C3N-00704_NB	G	G																c.3211G>T	p.Glu1071Ter	p.E1071*	ENST00000380701	21/26	146	121	25	185	185	0	strelka-varscan-mutect	CCDC171,stop_gained,p.Glu1071Ter,ENST00000380701,NM_173550.2;CCDC171,stop_gained,p.Glu311Ter,ENST00000449575,;CCDC171,stop_gained,p.Glu125Ter,ENST00000432954,;	T	ENST00000380701	Transcript	stop_gained	3539/6512	3211/3981	1071/1326	E/*	Gaa/Taa	rs761945690	1		1	CCDC171	HGNC	HGNC:29828	protein_coding	YES	CCDS6481.1	ENSP00000370077	Q6TFL3		UPI000021C44B	NM_173550.2			21/26		Coiled-coils_(Ncoils):Coil																	HIGH	1	SNV	1			1										PASS		rs761945690	.												T	4	4	63	15784638	15784638	G	T	1	0	0	0	0	0	1	0	0	2488	1291	45	2		2	CCDC171	9	15784638	Nonsense_Mutation	SNP	G	C3N-00704_TP	361586	15784638	122610079	331	20828											
FAM205A	0	.	GRCh38	chr9	34725296	34725296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacagcacatcgcaagccccGttggcctctagggctacagg	9	6	12	14	2	1	0	0	0	1	0	2	1	1	0	3	3	3	4	3	3	3	3	rs562140350		C3N-00704_TP	C3N-00704_NB	G	G																c.1944C>A	p.Asn648Lys	p.N648K	ENST00000378788	4/4	71	66	5	106	106	0	varscan-mutect	FAM205A,missense_variant,p.Asn648Lys,ENST00000378788,NM_001141917.1;	T	ENST00000378788	Transcript	missense_variant	1984/4225	1944/4008	648/1335	N/K	aaC/aaA	rs562140350	1		-1	FAM205A	HGNC	HGNC:41911	protein_coding	YES	CCDS55305.1	ENSP00000417711	Q6ZU69		UPI00017EE92B	NM_001141917.1	tolerated(0.69)		4/4		hmmpanther:PTHR21859:SF15,hmmpanther:PTHR21859																	MODERATE	1	SNV	2			1										PASS		rs562140350	.												T	3	4	63	34725296	34725296	G	T	1	0	0	0	0	1	0	0	0	5386	1136	40	1		1	FAM205A	9	34725296	Missense_Mutation	SNP	G	C3N-00704_TP	18940658	34725296	103669421	332	20829											
FAM214B	0	.	GRCh38	chr9	35106851	35106851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acagcttcaggcgacgggctCctttcagcctccgccccatg	6	8	10	17	3	2	0	2	0	0	0	4	1	4	0	5	2	2	2	5	2	0	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.935G>A	p.Gly312Glu	p.G312E	ENST00000378561	3/8	191	174	17	188	188	0	strelka-varscan-mutect	FAM214B,missense_variant,p.Gly312Glu,ENST00000378561,;FAM214B,missense_variant,p.Gly312Glu,ENST00000603301,NM_001317991.1;FAM214B,missense_variant,p.Gly312Glu,ENST00000378557,;FAM214B,missense_variant,p.Gly312Glu,ENST00000322813,NM_025182.2;FAM214B,missense_variant,p.Gly312Glu,ENST00000605244,;FAM214B,missense_variant,p.Gly312Glu,ENST00000488109,;FAM214B,missense_variant,p.Gly7Glu,ENST00000378566,;STOML2,upstream_gene_variant,,ENST00000452248,NM_001287031.1;STOML2,upstream_gene_variant,,ENST00000619795,NM_001287033.1;STOML2,upstream_gene_variant,,ENST00000356493,NM_013442.2,NM_001287032.1;FAM214B,downstream_gene_variant,,ENST00000605392,;FAM214B,downstream_gene_variant,,ENST00000605104,;STOML2,upstream_gene_variant,,ENST00000487490,;	T	ENST00000378561	Transcript	missense_variant	3991/5771	935/1617	312/538	G/E	gGa/gAa		1		-1	FAM214B	HGNC	HGNC:25666	protein_coding	YES	CCDS6578.1	ENSP00000367823	Q7L5A3		UPI0000169E3E		deleterious(0.04)		3/8		Low_complexity_(Seg):seg,hmmpanther:PTHR13199:SF12,hmmpanther:PTHR13199																	MODERATE	1	SNV	1			1										PASS		rs1439347183	.												T	3	4	63	35106851	35106851	C	T	1	0	0	0	0	1	0	0	0	5403	855	30	3		3	FAM214B	9	35106851	Missense_Mutation	SNP	C	C3N-00704_TP	381555	35106851	103287866	333	20830											
NPR2	0	.	GRCh38	chr9	35800138	35800138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcgaattgtggaaaagatGcagggacgaagatatcacgg	14	8	13	6	3	1	2	1	0	0	2	2	6	1	4	0	3	1	1	0	3	5	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1104G>T	p.Met368Ile	p.M368I	ENST00000342694	4/22	469	386	83	551	549	2	strelka-varscan-mutect	NPR2,missense_variant,p.Met368Ile,ENST00000342694,NM_003995.3;NPR2,non_coding_transcript_exon_variant,,ENST00000464810,;	T	ENST00000342694	Transcript	missense_variant	1359/3686	1104/3144	368/1047	M/I	atG/atT		1		1	NPR2	HGNC	HGNC:7944	protein_coding	YES	CCDS6590.1	ENSP00000341083	P20594		UPI0000125B42	NM_003995.3	deleterious(0.01)		4/22		hmmpanther:PTHR11920:SF305,hmmpanther:PTHR11920,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	35800138	35800138	G	T	1	0	0	0	0	1	0	0	0	10651	1319	46	2		2	NPR2	9	35800138	Missense_Mutation	SNP	G	C3N-00704_TP	693287	35800138	102594579	334	20831											
TMEM8B	0	.	GRCh38	chr9	35846026	35846026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggatgcttgactcacgagGtgcccttgagcctgggggat	6	11	15	9	1	1	2	1	2	0	0	1	5	1	4	2	4	3	1	2	4	0	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.331G>T	p.Val111Leu	p.V111L	ENST00000377988	7/13	280	240	40	312	312	0	strelka-varscan-mutect	TMEM8B,missense_variant,p.Val111Leu,ENST00000377988,NM_001042590.2;TMEM8B,missense_variant,p.Val111Leu,ENST00000377991,NM_001042589.2;TMEM8B,missense_variant,p.Val111Leu,ENST00000377996,;TMEM8B,missense_variant,p.Val111Leu,ENST00000439587,NM_016446.3;TMEM8B,non_coding_transcript_exon_variant,,ENST00000473947,;TMEM8B,non_coding_transcript_exon_variant,,ENST00000490199,;TMEM8B,downstream_gene_variant,,ENST00000472010,;TMEM8B,downstream_gene_variant,,ENST00000464519,;	T	ENST00000377988	Transcript	missense_variant	1637/3731	331/1419	111/472	V/L	Gtg/Ttg		1		1	TMEM8B	HGNC	HGNC:21427	protein_coding	YES	CCDS43800.1	ENSP00000367227	A6NDV4		UPI00002113B9	NM_001042590.2	tolerated(0.27)		7/13		hmmpanther:PTHR14319,hmmpanther:PTHR14319:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	35846026	35846026	G	T	1	0	0	0	0	1	0	0	0	16692	1261	44	2		2	TMEM8B	9	35846026	Missense_Mutation	SNP	G	C3N-00704_TP	45888	35846026	102548691	335	20832											
CNTNAP3	0	.	GRCh38	chr9	39078395	39078395	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgttacctccgatgacAgcagagtctcttctgtctgc	6	13	9	13	1	3	2	0	1	3	1	5	3	4	2	3	0	3	2	3	0	1	3	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.3735T>G	p.=	p.A1245A	ENST00000297668	23/24	938	882	56	1244	1244	0	varscan-mutect	CNTNAP3,synonymous_variant,p.=,ENST00000297668,NM_033655.3;CNTNAP3,synonymous_variant,p.=,ENST00000377656,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000493965,;CNTNAP3,downstream_gene_variant,,ENST00000477002,;	C	ENST00000297668	Transcript	synonymous_variant	3809/5064	3735/3867	1245/1288	A	gcT/gcG		1		-1	CNTNAP3	HGNC	HGNC:13834	protein_coding	YES	CCDS6616.1	ENSP00000297668	Q9BZ76		UPI000013E43B	NM_033655.3			23/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs1260778277	.												C	2	2	63	39078395	39078395	A	C	1	0	0	0	0	0	0	0	1	3429	175	7	5		5	CNTNAP3	9	39078395	Silent	SNP	A	C3N-00704_TP	3232369	39078395	99316322	336	20833											
CNTNAP3B	0	.	GRCh38	chr9	41964612	41964612	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccacgactgggaacacTcgcccccatgctcacagtag	9	7	9	16	2	1	0	1	0	0	0	3	2	2	1	3	1	2	2	3	1	2	1	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1682A>T	p.Glu561Val	p.E561V	ENST00000377561	11/24	63	58	5	58	58	0	varscan-mutect	CNTNAP3B,missense_variant,p.Glu561Val,ENST00000612828,;CNTNAP3B,missense_variant,p.Glu561Val,ENST00000377561,NM_001201380.2;CNTNAP3B,missense_variant,p.Glu561Val,ENST00000341990,;CNTNAP3B,intron_variant,,ENST00000617422,;CNTNAP3B,upstream_gene_variant,,ENST00000491438,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000618777,;CNTNAP3B,intron_variant,,ENST00000619138,;CNTNAP3B,intron_variant,,ENST00000479351,;	A	ENST00000377561	Transcript	missense_variant	2075/5379	1682/3867	561/1288	E/V	gAg/gTg		1		-1	CNTNAP3B	HGNC	HGNC:32035	protein_coding	YES	CCDS75836.1	ENSP00000478671		A0A087WUH3	UPI00043788D3	NM_001201380.2	tolerated(0.1)		11/24		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	41964612	41964612	T	A	1	0	0	0	0	1	0	0	0	3430	1551	54	4		4	CNTNAP3B	9	41964612	Missense_Mutation	SNP	T	C3N-00704_TP	2886217	41964612	96430105	337	20834											
SPATA31A7	0	.	GRCh38	chr9	61192505	61192505	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcccagtcctctcatgAgcctatggaagatgctgctc	8	10	9	14	0	1	2	1	1	1	1	5	3	3	3	4	1	4	2	4	1	2	1	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.419A>T	p.Glu140Val	p.E140V	ENST00000619167	4/4	468	381	87	550	550	0	strelka-varscan-mutect	SPATA31A7,missense_variant,p.Glu140Val,ENST00000619167,NM_015667.2;RP11-101E5.6,downstream_gene_variant,,ENST00000611332,;SPATA31A7,non_coding_transcript_exon_variant,,ENST00000618860,;SPATA31A7,non_coding_transcript_exon_variant,,ENST00000619140,;SPATA31A7,non_coding_transcript_exon_variant,,ENST00000622751,;SPATA31A7,non_coding_transcript_exon_variant,,ENST00000376458,;SPATA31A7,non_coding_transcript_exon_variant,,ENST00000614013,;SPATA31A7,non_coding_transcript_exon_variant,,ENST00000611017,;SPATA31A7,intron_variant,,ENST00000621711,;SPATA31A7,downstream_gene_variant,,ENST00000622899,;	T	ENST00000619167	Transcript	missense_variant	481/4256	419/4044	140/1347	E/V	gAg/gTg		1		1	SPATA31A7	HGNC	HGNC:32007	protein_coding	YES	CCDS75838.1	ENSP00000484807	Q8IWB4		UPI0000457748	NM_015667.2	deleterious(0)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF22,Pfam_domain:PF15371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	61192505	61192505	A	T	1	0	0	0	0	1	0	0	0	15346	304	11	4		4	SPATA31A7	9	61192505	Missense_Mutation	SNP	A	C3N-00704_TP	19227893	61192505	77202212	338	20835											
ANKRD20A4	0	.	GRCh38	chr9	64411514	64411514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccaacgtgaaaatgcgtGgcttgtacagcaactagatg	12	9	10	10	2	0	2	0	1	0	1	1	2	1	2	2	1	5	3	2	1	6	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2228G>T	p.Trp743Leu	p.W743L	ENST00000357336	15/15	266	233	33	471	471	0	varscan-mutect	ANKRD20A4,missense_variant,p.Trp743Leu,ENST00000357336,NM_001098805.1;	T	ENST00000357336	Transcript	missense_variant	2509/4137	2228/2472	743/823	W/L	tGg/tTg		1		1	ANKRD20A4	HGNC	HGNC:31982	protein_coding	YES	CCDS43828.1	ENSP00000349891	Q4UJ75		UPI000051917A	NM_001098805.1	tolerated(1)		15/15		Pfam_domain:PF14915,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF1																	MODERATE	1	SNV	1			1										PASS		rs1195604654	.												T	3	4	63	64411514	64411514	G	T	1	0	0	0	0	1	0	0	0	753	1357	47	2		2	ANKRD20A4	9	64411514	Missense_Mutation	SNP	G	C3N-00704_TP	3219009	64411514	73983203	339	20836											
GDA	0	.	GRCh38	chr9	72223163	72223163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaccacgtttttccctctCctgctctgagactttgatgg	6	14	8	13	1	2	2	0	2	2	1	4	4	3	2	3	1	1	2	3	1	0	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.650C>A	p.Ser217Tyr	p.S217Y	ENST00000238018	7/16	195	160	35	204	204	0	strelka-varscan-mutect	GDA,missense_variant,p.Ser143Tyr,ENST00000545168,NM_001242507.2,NM_001242506.2;GDA,missense_variant,p.Ser217Tyr,ENST00000358399,NM_004293.4;GDA,missense_variant,p.Ser217Tyr,ENST00000238018,NM_001242505.2;GDA,missense_variant,p.Ser83Tyr,ENST00000414671,;GDA,intron_variant,,ENST00000376986,;GDA,upstream_gene_variant,,ENST00000436438,;GDA,non_coding_transcript_exon_variant,,ENST00000477618,;GDA,missense_variant,p.Ser217Tyr,ENST00000475764,;GDA,upstream_gene_variant,,ENST00000489618,;	A	ENST00000238018	Transcript	missense_variant	859/2074	650/1416	217/471	S/Y	tCc/tAc		1		1	GDA	HGNC	HGNC:4212	protein_coding	YES	CCDS56576.1	ENSP00000238018	Q9Y2T3		UPI000015828B	NM_001242505.2	deleterious(0)		7/16		Gene3D:3.20.20.140,Pfam_domain:PF01979,hmmpanther:PTHR11271,hmmpanther:PTHR11271:SF6,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR02967																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	72223163	72223163	C	A	1	0	0	0	0	1	0	0	0	6178	855	30	2		2	GDA	9	72223163	Missense_Mutation	SNP	C	C3N-00704_TP	7811649	72223163	66171554	340	20837											
PRUNE2	0	.	GRCh38	chr9	76826656	76826656	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttaggaaatttttcttcCaggatagaaagaatttcctc	14	14	7	6	0	1	2	0	0	1	2	4	4	3	4	2	2	0	1	2	2	6	6			C3N-00704_TP	C3N-00704_NB	C	C																c.585G>T	p.=	p.L195L	ENST00000376718	5/19	113	104	9	144	144	0	strelka-varscan-mutect	PRUNE2,synonymous_variant,p.=,ENST00000376718,NM_015225.2;PRUNE2,synonymous_variant,p.=,ENST00000443509,NM_001308047.1,NM_001308048.1;PRUNE2,synonymous_variant,p.=,ENST00000376713,;PRUNE2,5_prime_UTR_variant,,ENST00000428286,;PRUNE2,non_coding_transcript_exon_variant,,ENST00000492157,;	A	ENST00000376718	Transcript	synonymous_variant	709/12584	585/9267	195/3088	L	ctG/ctT	COSM3780090,COSM3780091	1		-1	PRUNE2	HGNC	HGNC:25209	protein_coding	YES	CCDS47982.1	ENSP00000365908	Q8WUY3		UPI0001612CC0	NM_015225.2			5/19		Low_complexity_(Seg):seg,Gene3D:1wpnA00,Superfamily_domains:SSF64182											1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												A	2	1	63	76826656	76826656	C	A	1	0	0	0	0	0	0	0	1	12791	581	21	2		2	PRUNE2	9	76826656	Silent	SNP	C	C3N-00704_TP	4603493	76826656	61568061	341	20838											
SPATA31E1	0	.	GRCh38	chr9	87887107	87887107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcccttcccacaatccAcctttaccccctgggcctcc	5	8	4	24	1	0	0	0	0	0	0	3	0	3	0	10	1	1	0	10	1	2	3	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.2620A>G	p.Thr874Ala	p.T874A	ENST00000325643	4/4	170	137	33	197	197	0	strelka-varscan-mutect	SPATA31E1,missense_variant,p.Thr874Ala,ENST00000325643,NM_178828.4;	G	ENST00000325643	Transcript	missense_variant	2686/4478	2620/4338	874/1445	T/A	Acc/Gcc		1		1	SPATA31E1	HGNC	HGNC:26672	protein_coding	YES	CCDS6676.1	ENSP00000322640	Q6ZUB1		UPI000036764A	NM_178828.4	tolerated(0.91)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	63	87887107	87887107	A	G	1	0	0	0	0	1	0	0	0	15350	159	6	5		5	SPATA31E1	9	87887107	Missense_Mutation	SNP	A	C3N-00704_TP	11060451	87887107	50507610	342	20839											
SHC3	0	.	GRCh38	chr9	89038164	89038164	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttggtaccaagtctcggcTtgcagttcctccagcatctt	6	13	8	14	1	2	0	0	0	2	0	5	0	4	0	4	2	3	5	4	2	2	5	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1485A>T	p.Gln495His	p.Q495H	ENST00000375835	11/12	363	301	62	469	469	0	strelka-varscan-mutect	SHC3,missense_variant,p.Gln495His,ENST00000375835,NM_016848.5;SHC3,missense_variant,p.Gln43His,ENST00000375831,;	A	ENST00000375835	Transcript	missense_variant	1792/9768	1485/1785	495/594	Q/H	caA/caT		1		-1	SHC3	HGNC	HGNC:18181	protein_coding	YES	CCDS6681.1	ENSP00000364995	Q92529		UPI0000073E1F	NM_016848.5	deleterious(0.03)		11/12		hmmpanther:PTHR10337:SF4,hmmpanther:PTHR10337,Gene3D:3.30.505.10,Superfamily_domains:SSF55550																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	89038164	89038164	T	A	1	0	0	0	0	1	0	0	0	14531	1606	56	4		4	SHC3	9	89038164	Missense_Mutation	SNP	T	C3N-00704_TP	1151057	89038164	49356553	343	20840											
IPPK	0	.	GRCh38	chr9	92648150	92648150	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataaacccacattttggcTgtaaaataaacaaataagga	20	9	6	6	0	0	0	0	0	0	0	0	2	0	1	1	2	2	2	1	2	9	6	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.415-2A>T		p.X139_splice	ENST00000287996		160	131	29	182	182	0	strelka-varscan-mutect	IPPK,splice_acceptor_variant,,ENST00000287996,NM_022755.5;	A	ENST00000287996	Transcript	splice_acceptor_variant	-/4401	415/1476	139/491				1		-1	IPPK	HGNC	HGNC:14645	protein_coding	YES	CCDS6699.1	ENSP00000287996	Q9H8X2		UPI000006EBCA	NM_022755.5				5/12																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	63	92648150	92648150	T	A	1	0	0	0	0	0	0	1	0	7704	1594	55	4		4	IPPK	9	92648150	Splice_Site	SNP	T	C3N-00704_TP	3609986	92648150	45746567	344	20841											
WNK2	0	.	GRCh38	chr9	93289477	93289477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcagcctcagctgggaccCctgtggaggtgggcgacaga	7	6	15	13	1	2	1	2	0	0	1	2	4	2	3	4	4	2	1	4	4	0	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.4834C>T	p.Pro1612Ser	p.P1612S	ENST00000297954	20/30	139	108	31	154	154	0	strelka-mutect	WNK2,missense_variant,p.Pro1571Ser,ENST00000432730,;WNK2,missense_variant,p.Pro1612Ser,ENST00000297954,NM_001282394.1;WNK2,missense_variant,p.Pro1575Ser,ENST00000395477,NM_006648.3;WNK2,missense_variant,p.Pro1179Ser,ENST00000411624,;WNK2,missense_variant,p.Pro372Ser,ENST00000448251,;WNK2,missense_variant,p.Pro98Ser,ENST00000453718,;WNK2,5_prime_UTR_variant,,ENST00000427277,;WNK2,upstream_gene_variant,,ENST00000474009,;WNK2,upstream_gene_variant,,ENST00000479696,;	T	ENST00000297954	Transcript	missense_variant	4834/7138	4834/6894	1612/2297	P/S	Cct/Tct		1		1	WNK2	HGNC	HGNC:14542	protein_coding	YES	CCDS75858.1	ENSP00000297954	Q9Y3S1		UPI0000236D76	NM_001282394.1	deleterious(0)		20/30		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	93289477	93289477	C	T	1	0	0	0	0	1	0	0	0	17934	623	22	3		3	WNK2	9	93289477	Missense_Mutation	SNP	C	C3N-00704_TP	641327	93289477	45105240	345	20842											
KIAA0368	0	.	GRCh38	chr9	111371799	111371799	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtaatagtaattaactccTgcaggtataatcgaatgcca	14	11	9	7	1	0	0	0	0	0	0	2	1	1	0	2	2	3	4	2	2	7	6	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.5093A>T	p.Gln1698Leu	p.Q1698L	ENST00000259335	44/51	328	283	45	318	318	0	strelka-varscan-mutect	KIAA0368,missense_variant,p.Gln1698Leu,ENST00000259335,NM_001080398.1;KIAA0368,missense_variant,p.Gln1520Leu,ENST00000338205,;KIAA0368,upstream_gene_variant,,ENST00000374383,;KIAA0368,upstream_gene_variant,,ENST00000465499,;	A	ENST00000259335	Transcript	missense_variant	5093/7391	5093/6054	1698/2017	Q/L	cAg/cTg		1		-1	KIAA0368	HGNC	HGNC:29020	protein_coding	YES	CCDS48006.1	ENSP00000259335		J3KN16	UPI0000DD7F7A	NM_001080398.1	tolerated(0.25)		44/51		hmmpanther:PTHR23346,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	63	111371799	111371799	T	A	1	0	0	0	0	1	0	0	0	8083	1580	55	4		4	KIAA0368	9	111371799	Missense_Mutation	SNP	T	C3N-00704_TP	18082322	111371799	27022918	346	20843											
FKBP15	0	.	GRCh38	chr9	113186257	113186257	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attactccctaccttggaaaTggggaggctgagagagcggt	10	9	14	8	1	0	2	0	1	0	1	1	5	1	4	2	5	3	1	2	5	3	3	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1490A>T	p.His497Leu	p.H497L	ENST00000238256	15/28	128	105	23	160	160	0	strelka-varscan-mutect	FKBP15,missense_variant,p.His522Leu,ENST00000446284,;FKBP15,missense_variant,p.His497Leu,ENST00000238256,NM_015258.1;FKBP15,downstream_gene_variant,,ENST00000414250,;FKBP15,non_coding_transcript_exon_variant,,ENST00000489645,;	A	ENST00000238256	Transcript	missense_variant	1608/4336	1490/3660	497/1219	H/L	cAt/cTt		1		-1	FKBP15	HGNC	HGNC:23397	protein_coding	YES	CCDS48007.1	ENSP00000238256	Q5T1M5		UPI000022D996	NM_015258.1	tolerated(0.12)		15/28		hmmpanther:PTHR18937:SF256,hmmpanther:PTHR18937																	MODERATE	1	SNV	1			1										PASS		rs1243252279	.												A	3	1	63	113186257	113186257	T	A	1	0	0	0	0	1	0	0	0	5768	1464	51	4		4	FKBP15	9	113186257	Missense_Mutation	SNP	T	C3N-00704_TP	1814458	113186257	25208460	347	20844											
PAPPA	0	.	GRCh38	chr9	116187483	116187483	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagtgccctgaatcacaacTaccggggctacatcgagcac	11	6	10	14	2	1	1	1	1	0	0	2	2	1	1	2	2	5	3	2	2	4	2	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.745T>A	p.Tyr249Asn	p.Y249N	ENST00000328252	2/22	143	121	22	175	175	0	strelka-varscan-mutect	PAPPA,missense_variant,p.Tyr249Asn,ENST00000328252,NM_002581.3;	A	ENST00000328252	Transcript	missense_variant	1114/10959	745/4884	249/1627	Y/N	Tac/Aac		1		1	PAPPA	HGNC	HGNC:8602	protein_coding	YES	CCDS6813.1	ENSP00000330658	Q13219		UPI00001E0589	NM_002581.3	deleterious(0)		2/22		Gene3D:2.60.120.200,Pfam_domain:PF13385,SMART_domains:SM00560,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	116187483	116187483	T	A	1	0	0	0	0	1	0	0	0	11512	1522	53	4		4	PAPPA	9	116187483	Missense_Mutation	SNP	T	C3N-00704_TP	3001226	116187483	22207234	348	20845											
FBXW2	0	.	GRCh38	chr9	120788072	120788072	+	Nonsense_Mutation	SNP	C	C	A																															taacaaataaaaactgagctCcaggggaaggagtttgagga																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.187G>T	p.Glu63Ter	p.E63*	ENST00000608872	3/8	395	351	44	462	461	1	strelka-mutect	FBXW2,stop_gained,p.Glu63Ter,ENST00000608872,NM_012164.3;FBXW2,5_prime_UTR_variant,,ENST00000453291,;FBXW2,non_coding_transcript_exon_variant,,ENST00000474117,;FBXW2,non_coding_transcript_exon_variant,,ENST00000476481,;	A	ENST00000608872	Transcript	stop_gained	375/9138	187/1365	63/454	E/*	Gag/Tag		1		-1	FBXW2	HGNC	HGNC:13608	protein_coding	YES	CCDS43872.1	ENSP00000476369	Q9UKT8		UPI000006FE3A	NM_012164.3			3/8		Low_complexity_(Seg):seg,PROSITE_profiles:PS50181,hmmpanther:PTHR22844:SF166,hmmpanther:PTHR22844,Gene3D:1.20.1280.50,Pfam_domain:PF12937,SMART_domains:SM00256,Superfamily_domains:SSF81383																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	63	120788072	120788072	C	A	1	0	0	0	0	0	1	0	0	5629	864	30	2		2	FBXW2	9	120788072	Nonsense_Mutation	SNP	C	C3N-00704_TP	4600589	120788072	17606645	349	20846	439	3									
FBXW2	0	.	GRCh38	chr9	120788073	120788073	+	Silent	SNP	C	C	G																															aacaaataaaaactgagctcCaggggaaggagtttgaggaa																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.186G>C	p.=	p.L62L	ENST00000608872	3/8	393	350	43	456	456	0	strelka-mutect	FBXW2,synonymous_variant,p.=,ENST00000608872,NM_012164.3;FBXW2,5_prime_UTR_variant,,ENST00000453291,;FBXW2,non_coding_transcript_exon_variant,,ENST00000474117,;FBXW2,non_coding_transcript_exon_variant,,ENST00000476481,;	G	ENST00000608872	Transcript	synonymous_variant	374/9138	186/1365	62/454	L	ctG/ctC		1		-1	FBXW2	HGNC	HGNC:13608	protein_coding	YES	CCDS43872.1	ENSP00000476369	Q9UKT8		UPI000006FE3A	NM_012164.3			3/8		Low_complexity_(Seg):seg,PROSITE_profiles:PS50181,hmmpanther:PTHR22844:SF166,hmmpanther:PTHR22844,Gene3D:1.20.1280.50,Pfam_domain:PF12937,SMART_domains:SM00256,Superfamily_domains:SSF81383																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	63	120788073	120788073	C	G	1	0	0	0	0	0	0	0	1	5629	581	21	4		4	FBXW2	9	120788073	Silent	SNP	C	C3N-00704_TP	1	120788073	17606644	350	20847	439	3									
FBXW2	0	.	GRCh38	chr9	120788074	120788075	+	Frame_Shift_Ins	INS	-	-	G																															caaataaaaactgagctccaINSggggaaggagtttgaggaag																								novel		C3N-00704_TP	C3N-00704_NB	-	-																c.184dupC	p.Leu62ProfsTer24	p.L62Pfs*24	ENST00000608872	3/8	353	311	42	429	429	0	sindel-varindel	FBXW2,frameshift_variant,p.Leu62ProfsTer24,ENST00000608872,NM_012164.3;FBXW2,5_prime_UTR_variant,,ENST00000453291,;FBXW2,non_coding_transcript_exon_variant,,ENST00000474117,;FBXW2,non_coding_transcript_exon_variant,,ENST00000476481,;	G	ENST00000608872	Transcript	frameshift_variant	372-373/9138	184-185/1365	62/454	L/PX	ctg/cCtg		1		-1	FBXW2	HGNC	HGNC:13608	protein_coding	YES	CCDS43872.1	ENSP00000476369	Q9UKT8		UPI000006FE3A	NM_012164.3			3/8		Low_complexity_(Seg):seg,PROSITE_profiles:PS50181,hmmpanther:PTHR22844:SF166,hmmpanther:PTHR22844,Gene3D:1.20.1280.50,Pfam_domain:PF12937,SMART_domains:SM00256,Superfamily_domains:SSF81383																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	63	120788074	120788074	-	G	1	0	1	1	0	0	0	0	0	5629	188	7	0		0	FBXW2	9	120788074	Frame_Shift_Ins	INS	-	C3N-00704_TP	1	120788074	17606643	351	20848	439	3									
GAPVD1	0	.	GRCh38	chr9	125337042	125337042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagctgacctctcctcCttctcagtcagagtctctgc	6	11	6	18	0	4	2	2	1	3	1	8	2	5	2	5	0	2	1	5	0	0	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2534C>T	p.Pro845Leu	p.P845L	ENST00000394105	15/27	216	178	38	224	224	0	strelka-varscan-mutect	GAPVD1,missense_variant,p.Pro818Leu,ENST00000470056,;GAPVD1,missense_variant,p.Pro818Leu,ENST00000394104,;GAPVD1,missense_variant,p.Pro818Leu,ENST00000297933,NM_001282680.1;GAPVD1,missense_variant,p.Pro818Leu,ENST00000495955,NM_001282679.1;GAPVD1,missense_variant,p.Pro845Leu,ENST00000394105,NM_015635.3;GAPVD1,missense_variant,p.Pro797Leu,ENST00000394083,;GAPVD1,missense_variant,p.Pro797Leu,ENST00000312123,NM_001282681.1;GAPVD1,missense_variant,p.Pro818Leu,ENST00000467750,;GAPVD1,missense_variant,p.Pro655Leu,ENST00000436712,;GAPVD1,3_prime_UTR_variant,,ENST00000265956,;GAPVD1,intron_variant,,ENST00000431329,;GAPVD1,upstream_gene_variant,,ENST00000469498,;GAPVD1,3_prime_UTR_variant,,ENST00000497580,;GAPVD1,non_coding_transcript_exon_variant,,ENST00000479511,;	T	ENST00000394105	Transcript	missense_variant	2694/5207	2534/4464	845/1487	P/L	cCt/cTt		1		1	GAPVD1	HGNC	HGNC:23375	protein_coding	YES	CCDS35138.1	ENSP00000377665	Q14C86	A0A024R8A2	UPI00001D76F1	NM_015635.3	deleterious_low_confidence(0)		15/27																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	125337042	125337042	C	T	1	0	0	0	0	1	0	0	0	6107	681	24	3		3	GAPVD1	9	125337042	Missense_Mutation	SNP	C	C3N-00704_TP	4548968	125337042	13057675	352	20849											
FAM129B	0	.	GRCh38	chr9	127531700	127531700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgccctcaatctcatggCgcatgctgttgaagagagcc	8	9	11	13	2	2	2	2	1	1	1	3	3	2	2	3	1	3	3	3	1	2	1	rs773683224		C3N-00704_TP	C3N-00704_NB	C	C																c.134G>A	p.Arg45His	p.R45H	ENST00000373312	2/14	176	146	30	214	214	0	strelka-varscan-mutect	FAM129B,missense_variant,p.Arg45His,ENST00000373312,NM_022833.3;FAM129B,missense_variant,p.Arg32His,ENST00000373314,NM_001035534.2;FAM129B,non_coding_transcript_exon_variant,,ENST00000468379,;FAM129B,intron_variant,,ENST00000484348,;FAM129B,intron_variant,,ENST00000478917,;FAM129B,upstream_gene_variant,,ENST00000476091,;	T	ENST00000373312	Transcript	missense_variant	348/3957	134/2241	45/746	R/H	cGc/cAc	rs773683224,COSM292749,COSM4872723	1		-1	FAM129B	HGNC	HGNC:25282	protein_coding	YES	CCDS35145.1	ENSP00000362409	Q96TA1		UPI00001592F0	NM_022833.3	tolerated(0.05)		2/14		hmmpanther:PTHR14392:SF2,hmmpanther:PTHR14392											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs773683224	.												T	3	4	63	127531700	127531700	C	T	1	0	0	0	0	1	0	0	0	5287	768	27	1		1	FAM129B	9	127531700	Missense_Mutation	SNP	C	C3N-00704_TP	2194658	127531700	10863017	353	20850											
ENG	0	.	GRCh38	chr9	127854349	127854349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccagagggagcgtgccgcGgtccatgctgtccacgtggg	6	6	17	12	4	0	1	0	0	0	1	2	2	2	2	4	3	4	1	4	3	0	0	rs139334561		C3N-00704_TP	C3N-00704_NB	G	G																c.7C>A	p.Arg3Ser	p.R3S	ENST00000373203	1/15	183	164	19	217	217	0	strelka-varscan-mutect	ENG,missense_variant,p.Arg3Ser,ENST00000344849,NM_000118.3;ENG,missense_variant,p.Arg3Ser,ENST00000373203,NM_001114753.2;	T	ENST00000373203	Transcript	missense_variant	408/3048	7/1977	3/658	R/S	Cgc/Agc	rs139334561	1		-1	ENG	HGNC	HGNC:3349	protein_coding	YES	CCDS48029.1	ENSP00000362299	P17813	A0A024R878	UPI0000129E00	NM_001114753.2	deleterious(0.01)		1/15		PROSITE_profiles:PS51257,hmmpanther:PTHR14002,hmmpanther:PTHR14002:SF1,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs139334561	.												T	3	4	63	127854349	127854349	G	T	1	0	0	0	0	1	0	0	0	4960	1116	39	1		1	ENG	9	127854349	Missense_Mutation	SNP	G	C3N-00704_TP	322649	127854349	10540368	354	20851											
PRRC2B	0	.	GRCh38	chr9	131475581	131475581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccaagcgccgccggcagaGgggctccgagaacgggaatg	9	3	16	13	5	0	2	0	0	0	2	2	4	2	3	4	4	2	2	4	4	3	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.3452G>T	p.Arg1151Met	p.R1151M	ENST00000357304	15/31	91	78	13	101	101	0	strelka-varscan-mutect	PRRC2B,missense_variant,p.Arg1151Met,ENST00000357304,NM_013318.3;PRRC2B,intron_variant,,ENST00000405995,;PRRC2B,upstream_gene_variant,,ENST00000451855,;PRRC2B,downstream_gene_variant,,ENST00000422467,;PRRC2B,downstream_gene_variant,,ENST00000456307,;	T	ENST00000357304	Transcript	missense_variant	3507/11042	3452/6690	1151/2229	R/M	aGg/aTg		1		1	PRRC2B	HGNC	HGNC:28121	protein_coding	YES	CCDS48044.1	ENSP00000349856	Q5JSZ5		UPI00002374A3	NM_013318.3	deleterious(0)		15/31		hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038																	MODERATE	1	SNV	5			1										PASS		rs1282788368	.												T	3	4	63	131475581	131475581	G	T	1	0	0	0	0	1	0	0	0	12749	1000	35	2		2	PRRC2B	9	131475581	Missense_Mutation	SNP	G	C3N-00704_TP	3621232	131475581	6919136	355	20852											
SETX	0	.	GRCh38	chr9	132264682	132264682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgaagttggtcatgaacagGaggtctttcagggtcctttg	8	13	13	7	0	3	2	2	2	1	0	4	3	4	3	1	4	1	1	1	4	2	3			C3N-00704_TP	C3N-00704_NB	G	G																c.7591C>T	p.Pro2531Ser	p.P2531S	ENST00000224140	26/26	669	595	74	817	817	0	strelka-varscan-mutect	SETX,missense_variant,p.Pro2531Ser,ENST00000224140,NM_015046.5;SETX,missense_variant,p.Pro802Ser,ENST00000436441,;SETX,non_coding_transcript_exon_variant,,ENST00000477049,;	A	ENST00000224140	Transcript	missense_variant	7774/11100	7591/8034	2531/2677	P/S	Cct/Tct	COSM3375147,COSM3375148	1		-1	SETX	HGNC	HGNC:445	protein_coding	YES	CCDS6947.1	ENSP00000224140	Q7Z333		UPI0000210D28	NM_015046.5	tolerated(0.23)		26/26		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF377											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1451963911	.												A	3	1	63	132264682	132264682	G	A	1	0	0	0	0	1	0	0	0	14420	1174	41	3		3	SETX	9	132264682	Missense_Mutation	SNP	G	C3N-00704_TP	789101	132264682	6130035	356	20853											
SETX	0	.	GRCh38	chr9	132278242	132278242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcattgactggtcgtagcCatactcctgtgctttctgtg	6	15	9	11	1	2	1	1	1	1	0	4	1	3	1	2	1	3	2	2	1	2	4	rs780449068		C3N-00704_TP	C3N-00704_NB	C	C																c.6670G>T	p.Gly2224Cys	p.G2224C	ENST00000224140	21/26	262	224	38	409	409	0	strelka-mutect	SETX,missense_variant,p.Gly2224Cys,ENST00000224140,NM_015046.5;SETX,missense_variant,p.Gly466Cys,ENST00000436441,;SETX,upstream_gene_variant,,ENST00000477049,;SETX,downstream_gene_variant,,ENST00000474172,;SETX,upstream_gene_variant,,ENST00000464133,;	A	ENST00000224140	Transcript	missense_variant	6853/11100	6670/8034	2224/2677	G/C	Ggc/Tgc	rs780449068	1		-1	SETX	HGNC	HGNC:445	protein_coding	YES	CCDS6947.1	ENSP00000224140	Q7Z333		UPI0000210D28	NM_015046.5	deleterious(0)		21/26		Gene3D:3.40.50.300,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF377,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs780449068	.												A	3	1	63	132278242	132278242	C	A	1	0	0	0	0	1	0	0	0	14420	594	21	2		2	SETX	9	132278242	Missense_Mutation	SNP	C	C3N-00704_TP	13560	132278242	6116475	357	20854											
GFI1B	0	.	GRCh38	chr9	132988334	132988334	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggcaggccccctccaccAtgcagtcagccttcctggag	7	6	10	18	1	1	0	1	0	0	0	3	1	3	1	7	3	2	2	7	3	0	1	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.376A>T	p.Met126Leu	p.M126L	ENST00000339463	8/11	402	364	38	526	526	0	strelka-varscan-mutect	GFI1B,missense_variant,p.Met126Leu,ENST00000339463,NM_004188.5;GFI1B,missense_variant,p.Met126Leu,ENST00000636137,;GFI1B,missense_variant,p.Met126Leu,ENST00000372122,;GFI1B,missense_variant,p.Met126Leu,ENST00000636263,;GFI1B,missense_variant,p.Met126Leu,ENST00000372123,NM_001135031.1;	T	ENST00000339463	Transcript	missense_variant	1195/2449	376/993	126/330	M/L	Atg/Ttg		1		1	GFI1B	HGNC	HGNC:4238	protein_coding	YES	CCDS6957.1	ENSP00000344782	Q5VTD9		UPI000013E4EE	NM_004188.5	tolerated(0.54)		8/11																			MODERATE	1	SNV	1			1										PASS		rs1274965157	.												T	3	4	63	132988334	132988334	A	T	1	0	0	0	0	1	0	0	0	6214	217	8	4		4	GFI1B	9	132988334	Missense_Mutation	SNP	A	C3N-00704_TP	710092	132988334	5406383	358	20855											
FAM163B	0	.	GRCh38	chr9	133580139	133580139	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggaatacctggagccGgcagtagcacagaacagcga	12	3	14	12	3	0	1	0	0	0	1	0	4	0	3	3	3	5	3	3	3	4	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.85C>A	p.=	p.R29R	ENST00000356873	1/2	174	145	29	209	209	0	strelka-mutect	FAM163B,synonymous_variant,p.=,ENST00000356873,NM_001080515.2;FAM163B,synonymous_variant,p.=,ENST00000496132,;ADAMTSL2,downstream_gene_variant,,ENST00000393061,;ADAMTSL2,downstream_gene_variant,,ENST00000354484,NM_001145320.1;ADAMTSL2,downstream_gene_variant,,ENST00000393060,NM_014694.3;	T	ENST00000356873	Transcript	synonymous_variant	108/1131	85/501	29/166	R	Cgg/Agg		1		-1	FAM163B	HGNC	HGNC:33277	protein_coding	YES	CCDS35171.1	ENSP00000349336	P0C2L3		UPI00004577D5	NM_001080515.2			1/2		hmmpanther:PTHR31396,Pfam_domain:PF15069																	LOW	1	SNV	1			1										PASS		rs1269042210	.												T	2	4	63	133580139	133580139	G	T	1	0	0	0	0	0	0	0	1	5326	1115	39	1		1	FAM163B	9	133580139	Silent	SNP	G	C3N-00704_TP	591805	133580139	4814578	359	20856											
COL5A1	0	.	GRCh38	chr9	134780120	134780120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggggccgatggcatccgtGgtctgaagggcacaaagggc	9	5	18	9	2	1	1	0	1	1	0	2	2	2	1	2	6	0	2	2	6	2	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2404G>A	p.Gly802Ser	p.G802S	ENST00000371817	28/66	415	374	41	500	500	0	strelka-varscan-mutect	COL5A1,missense_variant,p.Gly802Ser,ENST00000371817,NM_000093.4;COL5A1,missense_variant,p.Gly802Ser,ENST00000618395,NM_001278074.1;	A	ENST00000371817	Transcript	missense_variant	2818/8471	2404/5517	802/1838	G/S	Ggt/Agt		1		1	COL5A1	HGNC	HGNC:2209	protein_coding	YES	CCDS6982.1	ENSP00000360882	P20908	A0A024R8E5	UPI0000210EE3	NM_000093.4	deleterious(0)		28/66		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF387																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	134780120	134780120	G	A	1	0	0	0	0	1	0	0	0	3485	1348	47	3		3	COL5A1	9	134780120	Missense_Mutation	SNP	G	C3N-00704_TP	1199981	134780120	3614597	360	20857											
FCN1	0	.	GRCh38	chr9	134913607	134913607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgactgagactgcccaGcgtctcctgtgtggggagag	8	7	14	12	2	1	2	0	1	1	2	2	5	1	2	2	2	2	0	2	2	0	0			C3N-00704_TP	C3N-00704_NB	G	G																c.314C>A	p.Ala105Asp	p.A105D	ENST00000371806	5/9	54	43	11	52	52	0	strelka-varscan-mutect	FCN1,missense_variant,p.Ala105Asp,ENST00000616356,;FCN1,missense_variant,p.Ala105Asp,ENST00000371806,NM_002003.3;	T	ENST00000371806	Transcript	missense_variant	406/1286	314/981	105/326	A/D	gCt/gAt	COSM5531157	1		-1	FCN1	HGNC	HGNC:3623	protein_coding	YES	CCDS6985.1	ENSP00000360871	O00602		UPI000012A5A7	NM_002003.3	tolerated(0.17)		5/9		hmmpanther:PTHR19143:SF165,hmmpanther:PTHR19143,Pfam_domain:PF01391											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	63	134913607	134913607	G	T	1	0	0	0	0	1	0	0	0	5654	971	34	2		2	FCN1	9	134913607	Missense_Mutation	SNP	G	C3N-00704_TP	133487	134913607	3481110	361	20858											
TRAF2	0	.	GRCh38	chr9	136908117	136908117	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgaccgaatgtcccgcGtgcaaaggcctggtccgcct	7	8	12	14	4	0	1	0	1	0	0	2	2	2	1	5	2	2	2	5	2	2	0	rs533013634		C3N-00704_TP	C3N-00704_NB	G	G																c.414G>T	p.=	p.A138A	ENST00000247668	5/11	190	155	35	202	202	0	strelka-varscan-mutect	TRAF2,synonymous_variant,p.=,ENST00000247668,NM_021138.3;TRAF2,synonymous_variant,p.=,ENST00000429509,;TRAF2,synonymous_variant,p.=,ENST00000419057,;TRAF2,non_coding_transcript_exon_variant,,ENST00000482854,;TRAF2,non_coding_transcript_exon_variant,,ENST00000474950,;TRAF2,upstream_gene_variant,,ENST00000469701,;	T	ENST00000247668	Transcript	synonymous_variant	466/2264	414/1506	138/501	A	gcG/gcT	rs533013634,COSM753085	1		1	TRAF2	HGNC	HGNC:12032	protein_coding	YES	CCDS7013.1	ENSP00000247668	Q12933	A0A024R8H5	UPI0000001612	NM_021138.3			5/11		PIRSF_domain:PIRSF015614,PROSITE_profiles:PS50145,hmmpanther:PTHR10131,hmmpanther:PTHR10131:SF21											0,1						LOW	1	SNV	1		0,1	1										PASS		rs533013634	.												T	2	4	63	136908117	136908117	G	T	1	0	0	0	0	0	0	0	1	16921	1132	40	1		1	TRAF2	9	136908117	Silent	SNP	G	C3N-00704_TP	1994510	136908117	1486600	362	20859											
AKR1C2	0	.	GRCh38	chr10	5003806	5003806	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgaagtgaccatcattCagcttcacacactggtattt	11	12	8	10	0	3	2	3	2	0	0	3	2	3	2	1	2	1	3	1	2	2	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.30G>T	p.=	p.L10L	ENST00000380753	1/9	239	208	31	240	240	0	varscan-mutect	AKR1C2,synonymous_variant,p.=,ENST00000380753,NM_205845.2,NM_001354.5;AKR1C2,synonymous_variant,p.=,ENST00000421196,;AKR1C2,synonymous_variant,p.=,ENST00000455190,NM_001135241.2;AKR1C2,synonymous_variant,p.=,ENST00000604507,;U8,upstream_gene_variant,,ENST00000459141,;AKR1C2,non_coding_transcript_exon_variant,,ENST00000604184,;AKR1C2,downstream_gene_variant,,ENST00000604428,;AKR1C2,downstream_gene_variant,,ENST00000604711,;AKR1C2,non_coding_transcript_exon_variant,,ENST00000460124,;	A	ENST00000380753	Transcript	synonymous_variant	218/3756	30/972	10/323	L	ctG/ctT		1		-1	AKR1C2	HGNC	HGNC:385	protein_coding	YES	CCDS7062.1	ENSP00000370129	P52895		UPI0000111D9F	NM_205845.2,NM_001354.5			1/9		hmmpanther:PTHR11732:SF153,hmmpanther:PTHR11732,PIRSF_domain:PIRSF000097,Gene3D:3.20.20.100,Superfamily_domains:SSF51430																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	63	5003806	5003806	C	A	1	0	0	0	0	0	0	0	1	554	813	29	2		2	AKR1C2	10	5003806	Silent	SNP	C	C3N-00704_TP		5003806	128793616	363	20860											
CUBN	0	.	GRCh38	chr10	16906400	16906400	+	Missense_Mutation	SNP	C	C	A																															caggagtatttggaagagacCcaccacacactaagaaaaca																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.7715G>T	p.Gly2572Val	p.G2572V	ENST00000377833	50/67	319	284	35	431	430	1	strelka-varscan-mutect	CUBN,missense_variant,p.Gly2572Val,ENST00000377833,NM_001081.3;	A	ENST00000377833	Transcript	missense_variant	7781/11949	7715/10872	2572/3623	G/V	gGg/gTg		1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3	deleterious(0)		50/67		PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	16906400	16906400	C	A	1	0	0	0	0	1	0	0	0	3861	623	22	2		2	CUBN	10	16906400	Missense_Mutation	SNP	C	C3N-00704_TP	11902594	16906400	116891022	364	20861	440	2									
CUBN	0	.	GRCh38	chr10	16906401	16906401	+	Missense_Mutation	SNP	C	C	A																															aggagtatttggaagagaccCaccacacactaagaaaacag																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.7714G>T	p.Gly2572Trp	p.G2572W	ENST00000377833	50/67	316	280	36	426	426	0	strelka-varscan-mutect	CUBN,missense_variant,p.Gly2572Trp,ENST00000377833,NM_001081.3;	A	ENST00000377833	Transcript	missense_variant	7780/11949	7714/10872	2572/3623	G/W	Ggg/Tgg		1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3	deleterious(0)		50/67		PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		rs1156777916	.												A	3	1	63	16906401	16906401	C	A	1	0	0	0	0	1	0	0	0	3861	594	21	2		2	CUBN	10	16906401	Missense_Mutation	SNP	C	C3N-00704_TP	1	16906401	116891021	365	20862	440	2									
CREM	0	.	GRCh38	chr10	35188347	35188347	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaatcagctgatggcaCacagcagttctttgtcccag	11	9	9	12	0	2	1	1	1	1	0	3	1	3	1	1	1	3	5	1	1	1	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.557C>G	p.Thr186Arg	p.T186R	ENST00000345491	6/8	178	145	33	160	159	1	strelka-varscan-mutect	CREM,missense_variant,p.Thr186Arg,ENST00000345491,NM_181571.2;CREM,missense_variant,p.Thr156Arg,ENST00000361599,NM_182771.1,NM_182772.1;CREM,missense_variant,p.Thr131Arg,ENST00000342105,NM_182770.2,NM_182769.2;CREM,missense_variant,p.Thr219Arg,ENST00000429130,;CREM,missense_variant,p.Thr24Arg,ENST00000463314,NM_001267567.1;CREM,missense_variant,p.Thr186Arg,ENST00000479070,;CREM,missense_variant,p.Thr186Arg,ENST00000337656,NM_183011.1;CREM,missense_variant,p.Thr156Arg,ENST00000395887,NM_001267564.1;CREM,missense_variant,p.Thr65Arg,ENST00000494479,;CREM,missense_variant,p.Thr65Arg,ENST00000495301,;CREM,intron_variant,,ENST00000439705,;CREM,intron_variant,,ENST00000374721,;CREM,intron_variant,,ENST00000374728,NM_183060.2;CREM,intron_variant,,ENST00000348787,;CREM,intron_variant,,ENST00000354759,NM_183013.2;CREM,intron_variant,,ENST00000460270,;CREM,intron_variant,,ENST00000474362,;CREM,intron_variant,,ENST00000374734,NM_183012.1;CREM,intron_variant,,ENST00000484283,;CREM,intron_variant,,ENST00000487132,;CREM,intron_variant,,ENST00000463960,;CREM,downstream_gene_variant,,ENST00000427847,;CREM,non_coding_transcript_exon_variant,,ENST00000374711,;CREM,intron_variant,,ENST00000461968,;CREM,intron_variant,,ENST00000466251,;CREM,3_prime_UTR_variant,,ENST00000495960,;CREM,intron_variant,,ENST00000490460,;CREM,intron_variant,,ENST00000464475,;	G	ENST00000345491	Transcript	missense_variant	719/2220	557/903	186/300	T/R	aCa/aGa		1		1	CREM	HGNC	HGNC:2352	protein_coding	YES	CCDS7180.1	ENSP00000265372	Q03060		UPI00001BDF4F	NM_181571.2	tolerated(0.07)		6/8		hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF97																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	63	35188347	35188347	C	G	1	0	0	0	0	1	0	0	0	3669	478	17	4		4	CREM	10	35188347	Missense_Mutation	SNP	C	C3N-00704_TP	18281946	35188347	98609075	366	20863											
ZNF248	0	.	GRCh38	chr10	37833086	37833086	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcattttcctggctgctcTctaacacgtcatcaactttc	7	16	4	14	1	4	0	3	0	1	0	7	0	5	0	1	1	3	2	1	1	2	5	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.269A>T	p.Glu90Val	p.E90V	ENST00000395867	6/6	48	37	11	93	93	0	strelka-varscan-mutect	ZNF248,missense_variant,p.Glu90Val,ENST00000395867,NM_021045.2;ZNF248,missense_variant,p.Glu90Val,ENST00000357328,NM_001267597.1;ZNF248,missense_variant,p.Glu90Val,ENST00000611278,NM_001267605.1,NM_001267606.1;ZNF248,missense_variant,p.Glu90Val,ENST00000374648,;ZNF248,missense_variant,p.Glu90Val,ENST00000395873,;AL135791.1,missense_variant,p.Glu90Val,ENST00000615949,NM_001267607.1;ZNF248,downstream_gene_variant,,ENST00000395874,;ZNF248,non_coding_transcript_exon_variant,,ENST00000494133,;ZNF248,missense_variant,p.Glu90Val,ENST00000485560,;	A	ENST00000395867	Transcript	missense_variant	820/5141	269/1740	90/579	E/V	gAg/gTg		1		-1	ZNF248	HGNC	HGNC:13041	protein_coding	YES	CCDS7194.1	ENSP00000379208	Q8NDW4	A2RUI7	UPI000006CF12	NM_021045.2	deleterious(0.03)		6/6		hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF68																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	37833086	37833086	T	A	1	0	0	0	0	1	0	0	0	18369	1551	54	4		4	ZNF248	10	37833086	Missense_Mutation	SNP	T	C3N-00704_TP	2644739	37833086	95964336	367	20864											
ZNF33B	0	.	GRCh38	chr10	42592886	42592886	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcatagggtttctccccCgtgtgctttctctcatgtaa	6	16	7	12	1	4	0	2	0	2	0	6	0	4	0	2	1	1	3	2	1	2	5	rs149979023		C3N-00704_TP	C3N-00704_NB	C	C																c.2064G>T	p.=	p.T688T	ENST00000359467	5/5	272	233	39	348	348	0	strelka-varscan-mutect	ZNF33B,synonymous_variant,p.=,ENST00000359467,NM_001305036.1,NM_001305033.1,NM_006955.1;ZNF33B,synonymous_variant,p.=,ENST00000613419,;ZNF33B,intron_variant,,ENST00000465206,;ZNF33B,intron_variant,,ENST00000462075,;ZNF33B,intron_variant,,ENST00000486187,;	A	ENST00000359467	Transcript	synonymous_variant	2179/5958	2064/2337	688/778	T	acG/acT	rs149979023,COSM684341	1		-1	ZNF33B	HGNC	HGNC:13097	protein_coding	YES	CCDS7198.1	ENSP00000352444	Q06732		UPI000007257B	NM_001305036.1,NM_001305033.1,NM_006955.1			5/5		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF204,Superfamily_domains:SSF57667											0,1						LOW	1	SNV	1		0,1	1										PASS		rs149979023	.												A	2	1	63	42592886	42592886	C	A	1	0	0	0	0	0	0	0	1	18427	639	23	1		1	ZNF33B	10	42592886	Silent	SNP	C	C3N-00704_TP	4759800	42592886	91204536	368	20865											
ANTXRL	0	.	GRCh38	chr10	46287287	46287287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagccatgagtccctggggCcctacttcctggtcttcctg	4	11	12	14	0	1	1	0	1	1	0	4	2	4	2	5	4	2	0	5	4	1	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.25C>A	p.Pro9Thr	p.P9T	ENST00000620264	1/17	174	143	31	197	197	0	strelka-varscan-mutect	ANTXRL,missense_variant,p.Pro9Thr,ENST00000620264,NM_001278688.2;ANTXRL,missense_variant,p.Pro9Thr,ENST00000622632,;ANTXRL,intron_variant,,ENST00000619553,;ANTXRL,intron_variant,,ENST00000617088,;	A	ENST00000620264	Transcript	missense_variant	290/2206	25/1896	9/631	P/T	Ccc/Acc		1		1	ANTXRL	HGNC	HGNC:27277	protein_coding	YES	CCDS60524.1	ENSP00000480615	A6NF34		UPI00015B6A6A	NM_001278688.2	deleterious_low_confidence(0)		1/17		Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR16059,hmmpanther:PTHR16059:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	63	46287287	46287287	C	A	1	0	0	0	0	1	0	0	0	820	739	26	2		2	ANTXRL	10	46287287	Missense_Mutation	SNP	C	C3N-00704_TP	3694401	46287287	87510135	369	20866											
RBP3	0	.	GRCh38	chr10	47353493	47353493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaagaagatcatgcacacgGatgccatgatcatcgacatg	14	7	11	9	2	2	3	2	1	0	2	3	6	2	5	1	2	2	1	1	2	2	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.3223G>A	p.Asp1075Asn	p.D1075N	ENST00000584701	2/4	322	274	48	406	406	0	strelka-varscan-mutect	RBP3,missense_variant,p.Asp1075Asn,ENST00000584701,NM_002900.2;	A	ENST00000584701	Transcript	missense_variant	3337/4276	3223/3744	1075/1247	D/N	Gat/Aat		1		1	RBP3	HGNC	HGNC:9921	protein_coding	YES	CCDS73119.1	ENSP00000463151	P10745		UPI000012D87A	NM_002900.2	tolerated(0.15)		2/4		Gene3D:3.90.226.10,Pfam_domain:PF03572,hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF3,SMART_domains:SM00245,Superfamily_domains:SSF52096																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	47353493	47353493	G	A	1	0	0	0	0	1	0	0	0	13325	1174	41	3		3	RBP3	10	47353493	Missense_Mutation	SNP	G	C3N-00704_TP	1066206	47353493	86443929	370	20867											
WDFY4	0	.	GRCh38	chr10	48830737	48830737	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagacagtgcagactctctgGcagcagctggtggcacaaag	12	6	13	10	0	1	2	0	0	1	2	2	2	1	2	0	3	3	5	0	3	2	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.6378G>A	p.Trp2126Ter	p.W2126*	ENST00000325239	37/61	147	130	17	157	157	0	strelka-varscan-mutect	WDFY4,stop_gained,p.Trp2126Ter,ENST00000325239,NM_020945.1;WDFY4,stop_gained,p.Trp213Ter,ENST00000265453,;	A	ENST00000325239	Transcript	stop_gained	6378/9555	6378/9555	2126/3184	W/*	tgG/tgA		1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1			37/61		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	63	48830737	48830737	G	A	1	0	0	0	0	0	1	0	0	17831	1212	42	3		3	WDFY4	10	48830737	Nonsense_Mutation	SNP	G	C3N-00704_TP	1477244	48830737	84966685	371	20868											
ERCC6	0	.	GRCh38	chr10	49532735	49532735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgcctggatctgatgtCggtcgatgtgcagcagggct	6	11	14	10	2	1	1	0	1	1	0	3	3	1	2	1	3	4	3	1	3	1	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.230G>T	p.Arg77Leu	p.R77L	ENST00000355832	2/21	267	224	43	345	345	0	strelka-varscan-mutect	ERCC6,missense_variant,p.Arg77Leu,ENST00000355832,NM_000124.3;ERCC6,missense_variant,p.Arg77Leu,ENST00000515869,NM_001277059.1;ERCC6,missense_variant,p.Arg77Leu,ENST00000447839,NM_001277058.1;ERCC6,missense_variant,p.Arg77Leu,ENST00000462247,;ERCC6,upstream_gene_variant,,ENST00000479652,;	A	ENST00000355832	Transcript	missense_variant	309/8008	230/4482	77/1493	R/L	cGa/cTa		1		-1	ERCC6	HGNC	HGNC:3438	protein_coding	YES	CCDS7229.1	ENSP00000348089	Q03468		UPI000000D8DA	NM_000124.3	deleterious(0)		2/21																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	49532735	49532735	C	A	1	0	0	0	0	1	0	0	0	5066	884	31	1		1	ERCC6	10	49532735	Missense_Mutation	SNP	C	C3N-00704_TP	701998	49532735	84264687	372	20869											
OGDHL	0	.	GRCh38	chr10	49756812	49756812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggactgcacagccaggtgGtcctccaccaatttgctggt	8	9	12	12	0	0	0	0	0	0	0	2	1	2	1	4	4	3	2	4	4	1	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.339C>A	p.Asp113Glu	p.D113E	ENST00000374103	3/23	103	86	17	105	105	0	strelka-varscan-mutect	OGDHL,missense_variant,p.Asp113Glu,ENST00000374103,NM_018245.2;OGDHL,intron_variant,,ENST00000419399,NM_001143996.1;OGDHL,intron_variant,,ENST00000432695,NM_001143997.1;OGDHL,non_coding_transcript_exon_variant,,ENST00000471460,;	T	ENST00000374103	Transcript	missense_variant	425/3704	339/3033	113/1010	D/E	gaC/gaA		1		-1	OGDHL	HGNC	HGNC:25590	protein_coding	YES	CCDS7234.1	ENSP00000363216	Q9ULD0		UPI000013D6A4	NM_018245.2	tolerated(0.16)		3/23		PIRSF_domain:PIRSF000157,hmmpanther:PTHR23152,hmmpanther:PTHR23152:SF5,TIGRFAM_domain:TIGR00239																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	49756812	49756812	G	T	1	0	0	0	0	1	0	0	0	10914	1252	44	2		2	OGDHL	10	49756812	Missense_Mutation	SNP	G	C3N-00704_TP	224077	49756812	84040610	373	20870											
IPMK	0	.	GRCh38	chr10	58196659	58196659	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactggcagcaacagcatctTttcttaagcagtacccatta	12	12	6	11	0	2	0	0	0	2	0	2	0	2	0	1	1	6	5	1	1	5	6	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.668A>T	p.Lys223Ile	p.K223I	ENST00000373935	6/6	51	37	14	109	109	0	strelka-varscan-mutect	IPMK,missense_variant,p.Lys223Ile,ENST00000373935,NM_152230.4;	A	ENST00000373935	Transcript	missense_variant	991/6133	668/1251	223/416	K/I	aAa/aTa		1		-1	IPMK	HGNC	HGNC:20739	protein_coding	YES	CCDS7250.1	ENSP00000363046	Q8NFU5		UPI000006FB8E	NM_152230.4	deleterious(0.01)		6/6		hmmpanther:PTHR12400:SF51,hmmpanther:PTHR12400,Pfam_domain:PF03770,Superfamily_domains:SSF56104																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	58196659	58196659	T	A	1	0	0	0	0	1	0	0	0	7695	1841	64	4		4	IPMK	10	58196659	Missense_Mutation	SNP	T	C3N-00704_TP	8439847	58196659	75600763	374	20871											
FAM13C	0	.	GRCh38	chr10	59352473	59352473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctctttattgttttcatCtctaaaacaggaaagaccca	12	15	5	9	0	3	1	1	0	2	1	5	2	3	2	1	1	1	2	1	1	4	7	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.121G>A	p.Asp41Asn	p.D41N	ENST00000618804	3/14	166	137	29	199	199	0	varscan-mutect	FAM13C,missense_variant,p.Asp41Asn,ENST00000621119,;FAM13C,missense_variant,p.Asp41Asn,ENST00000614220,;FAM13C,missense_variant,p.Asp41Asn,ENST00000618804,NM_198215.3;FAM13C,missense_variant,p.Asp41Asn,ENST00000611933,NM_001001971.2;FAM13C,missense_variant,p.Asp41Asn,ENST00000435852,;FAM13C,missense_variant,p.Asp41Asn,ENST00000422313,;FAM13C,splice_region_variant,,ENST00000618427,NM_001166698.1;FAM13C,splice_region_variant,,ENST00000468840,NM_001143773.1;FAM13C,splice_region_variant,,ENST00000503444,;FAM13C,splice_region_variant,,ENST00000512919,;FAM13C,splice_region_variant,,ENST00000470220,;FAM13C,upstream_gene_variant,,ENST00000507862,;FAM13C,splice_region_variant,,ENST00000622363,;FAM13C,splice_region_variant,,ENST00000619059,;	T	ENST00000618804	Transcript	missense_variant,splice_region_variant	211/3333	121/1758	41/585	D/N	Gat/Aat		1		-1	FAM13C	HGNC	HGNC:19371	protein_coding	YES	CCDS7255.1	ENSP00000481854	Q8NE31		UPI00001AEA18	NM_198215.3	deleterious_low_confidence(0)		3/14		hmmpanther:PTHR15904:SF19,hmmpanther:PTHR15904																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	59352473	59352473	C	T	1	0	0	0	0	1	0	0	0	5303	927	32	3		3	FAM13C	10	59352473	Missense_Mutation	SNP	C	C3N-00704_TP	1155814	59352473	74444949	375	20872											
CDH23	0	.	GRCh38	chr10	71740927	71740927	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcatcgagagcccctttGgatacaatgtcagtgtgaat	11	11	10	9	1	2	2	2	1	0	1	3	4	2	3	2	1	2	0	2	1	3	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.4609G>T	p.Gly1537Ter	p.G1537*	ENST00000224721	37/70	252	205	47	273	272	1	strelka-varscan-mutect	CDH23,stop_gained,p.Gly1537Ter,ENST00000224721,NM_022124.5;CDH23,stop_gained,p.Gly1532Ter,ENST00000622827,;C10orf105,upstream_gene_variant,,ENST00000398786,NM_001168390.1;CDH23,non_coding_transcript_exon_variant,,ENST00000398792,;	T	ENST00000224721	Transcript	stop_gained	4999/11139	4609/10080	1537/3359	G/*	Gga/Tga		1		1	CDH23	HGNC	HGNC:13733	protein_coding			ENSP00000224721		A0A0A0MQS6	UPI0002B831D5	NM_022124.5			37/70		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF277,Superfamily_domains:SSF49313																	HIGH		SNV	5			1										PASS		.	.												T	4	4	63	71740927	71740927	G	T	1	0	0	0	0	0	1	0	0	2811	1349	47	2		2	CDH23	10	71740927	Nonsense_Mutation	SNP	G	C3N-00704_TP	12388454	71740927	62056495	376	20873											
SFTPD	0	.	GRCh38	chr10	79938077	79938077	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttagctacgaccagctgTtgcaaggcggcattctcagc	8	11	10	12	2	2	0	1	0	2	0	3	1	2	0	1	2	5	5	1	2	3	5	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.903A>G	p.=	p.Q301Q	ENST00000372292	8/8	242	196	46	311	311	0	strelka-varscan-mutect	SFTPD,synonymous_variant,p.=,ENST00000372292,NM_003019.4;SFTPD,downstream_gene_variant,,ENST00000444384,;MBL1P,intron_variant,,ENST00000421889,;	C	ENST00000372292	Transcript	synonymous_variant	944/1281	903/1128	301/375	Q	caA/caG		1		-1	SFTPD	HGNC	HGNC:10803	protein_coding	YES	CCDS7362.1	ENSP00000361366	P35247		UPI000013CEE7	NM_003019.4			8/8		PROSITE_profiles:PS50041,hmmpanther:PTHR24024:SF15,hmmpanther:PTHR24024,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	63	79938077	79938077	T	C	1	0	0	0	0	0	0	0	1	14453	1722	60	5		5	SFTPD	10	79938077	Silent	SNP	T	C3N-00704_TP	8197150	79938077	53859345	377	20874											
GRID1	0	.	GRCh38	chr10	85647284	85647284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccagagttcagcaaacGtgctgtcctgctccaggggg	7	8	13	13	2	1	1	1	0	0	1	4	1	4	1	4	2	4	4	4	2	1	1	rs771133372		C3N-00704_TP	C3N-00704_NB	G	G																c.2111C>A	p.Thr704Lys	p.T704K	ENST00000327946	13/16	240	209	31	318	318	0	strelka-varscan-mutect	GRID1,missense_variant,p.Thr704Lys,ENST00000327946,NM_017551.2;RP11-93H12.4,non_coding_transcript_exon_variant,,ENST00000474115,;RN7SKP238,downstream_gene_variant,,ENST00000516483,;GRID1,missense_variant,p.Thr704Lys,ENST00000464741,;	T	ENST00000327946	Transcript	missense_variant	2197/5834	2111/3030	704/1009	T/K	aCg/aAg	rs771133372	1		-1	GRID1	HGNC	HGNC:4575	protein_coding	YES	CCDS31236.1	ENSP00000330148	Q9ULK0		UPI00001D8051	NM_017551.2	deleterious(0.03)		13/16		Gene3D:1.10.287.70,Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF108,SMART_domains:SM00079,Superfamily_domains:SSF53850																	MODERATE	1	SNV	2			1										PASS		rs771133372	.												T	3	4	63	85647284	85647284	G	T	1	0	0	0	0	1	0	0	0	6651	1145	40	1		1	GRID1	10	85647284	Missense_Mutation	SNP	G	C3N-00704_TP	5709207	85647284	48150138	378	20875											
PPP1R3C	0	.	GRCh38	chr10	91630640	91630640	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacaacgcgcttcttggCttggttgtgtgagcacttcc	8	12	10	11	2	1	1	0	1	1	0	2	1	2	1	1	2	3	4	1	2	2	5	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.241G>T	p.Ala81Ser	p.A81S	ENST00000238994	2/2	108	92	16	161	159	2	strelka-varscan-mutect	PPP1R3C,missense_variant,p.Ala81Ser,ENST00000238994,NM_005398.5;	A	ENST00000238994	Transcript	missense_variant	326/2524	241/954	81/317	A/S	Gcc/Tcc		1		-1	PPP1R3C	HGNC	HGNC:9293	protein_coding	YES	CCDS7416.1	ENSP00000238994	Q9UQK1		UPI000006EFF1	NM_005398.5	tolerated(0.38)		2/2		PIRSF_domain:PIRSF038207,PIRSF_domain:PIRSF500813,hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	91630640	91630640	C	A	1	0	0	0	0	1	0	0	0	12494	797	28	2		2	PPP1R3C	10	91630640	Missense_Mutation	SNP	C	C3N-00704_TP	5983356	91630640	42166782	379	20876											
PLCE1	0	.	GRCh38	chr10	94132433	94132433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttctcagtacttttggagGatccactggacgaatgatgc	9	12	10	10	1	1	1	1	1	1	0	3	5	2	4	2	3	2	1	2	3	2	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1466G>T	p.Gly489Val	p.G489V	ENST00000371380	2/32	282	250	32	334	334	0	strelka-varscan-mutect	PLCE1,missense_variant,p.Gly489Val,ENST00000371380,NM_016341.3,NM_001288989.1;PLCE1,missense_variant,p.Gly181Val,ENST00000371375,;PLCE1,missense_variant,p.Gly181Val,ENST00000371385,NM_001165979.2;	T	ENST00000371380	Transcript	missense_variant	1701/12024	1466/6909	489/2302	G/V	gGa/gTa		1		1	PLCE1	HGNC	HGNC:17175	protein_coding	YES	CCDS41552.1	ENSP00000360431	Q9P212		UPI00001F93EE	NM_016341.3,NM_001288989.1	deleterious_low_confidence(0)		2/32		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs951540403	.												T	3	4	63	94132433	94132433	G	T	1	0	0	0	0	1	0	0	0	12128	1174	41	2		2	PLCE1	10	94132433	Missense_Mutation	SNP	G	C3N-00704_TP	2501793	94132433	39664989	380	20877											
TLL2	0	.	GRCh38	chr10	96446151	96446151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctgggctgctctcagatgCctgctcttcaagcccaccta	6	11	9	15	0	4	1	2	0	3	1	5	1	4	1	3	1	4	3	3	1	2	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.304G>T	p.Ala102Ser	p.A102S	ENST00000357947	3/21	215	187	28	252	252	0	strelka-varscan-mutect	TLL2,missense_variant,p.Ala102Ser,ENST00000357947,NM_012465.3;TLL2,non_coding_transcript_exon_variant,,ENST00000469598,;	A	ENST00000357947	Transcript	missense_variant	530/6756	304/3048	102/1015	A/S	Gca/Tca		1		-1	TLL2	HGNC	HGNC:11844	protein_coding	YES	CCDS7449.1	ENSP00000350630	Q9Y6L7		UPI0000073AEE	NM_012465.3	tolerated(0.82)		3/21		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF638,PIRSF_domain:PIRSF001199																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	96446151	96446151	C	A	1	0	0	0	0	1	0	0	0	16392	739	26	2		2	TLL2	10	96446151	Missense_Mutation	SNP	C	C3N-00704_TP	2313718	96446151	37351271	381	20878											
SORCS3	0	.	GRCh38	chr10	105200117	105200117	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggcacctgctcaatcagGtacacaccccagggagttgg	9	7	11	14	0	2	0	2	0	0	0	2	1	2	1	4	4	2	4	4	4	2	2	rs760373074		C3N-00704_TP	C3N-00704_NB	G	G																c.2127+1G>T		p.X709_splice	ENST00000369701		129	110	19	134	134	0	strelka-varscan-mutect	SORCS3,splice_donor_variant,,ENST00000369701,NM_014978.2;SORCS3,splice_donor_variant,,ENST00000369699,;SORCS3,intron_variant,,ENST00000393176,;	T	ENST00000369701	Transcript	splice_donor_variant	-/5757	2127/3669	709/1222			rs760373074	1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2				15/26																		HIGH	1	SNV	1			1										PASS		rs760373074	.												T	5	4	63	105200117	105200117	G	T	1	0	0	0	0	0	0	1	0	15254	1275	44	2		2	SORCS3	10	105200117	Splice_Site	SNP	G	C3N-00704_TP	8753966	105200117	28597305	382	20879											
SORCS3	0	.	GRCh38	chr10	105247217	105247217	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacattctctctccctgcAgaatatttccagtcccagct	10	13	4	14	0	2	1	0	0	2	1	6	1	4	1	3	0	3	2	3	0	4	4			C3N-00704_TP	C3N-00704_NB	A	A																c.2993-2A>T		p.X998_splice	ENST00000369701		49	42	7	65	65	0	strelka-mutect	SORCS3,splice_acceptor_variant,,ENST00000369701,NM_014978.2;SORCS3,splice_acceptor_variant,,ENST00000369699,;	T	ENST00000369701	Transcript	splice_acceptor_variant	-/5757	2993/3669	998/1222			COSM5370054,COSM5575182	1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2				21/26												1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												T	5	4	63	105247217	105247217	A	T	1	0	0	0	0	0	0	1	0	15254	202	7	4		4	SORCS3	10	105247217	Splice_Site	SNP	A	C3N-00704_TP	47100	105247217	28550205	383	20880											
SORCS3	0	.	GRCh38	chr10	105247253	105247253	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcttttatcattctctccTaatctggattaccacaatcc	10	15	3	13	0	3	0	1	0	2	0	6	1	5	1	3	1	2	1	3	1	4	5	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.3027T>A	p.=	p.P1009P	ENST00000369701	22/27	89	74	15	113	113	0	strelka-varscan-mutect	SORCS3,synonymous_variant,p.=,ENST00000369701,NM_014978.2;SORCS3,synonymous_variant,p.=,ENST00000369699,;	A	ENST00000369701	Transcript	synonymous_variant	3254/5757	3027/3669	1009/1222	P	ccT/ccA		1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2			22/27		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	63	105247253	105247253	T	A	1	0	0	0	0	0	0	0	1	15254	1509	53	4		4	SORCS3	10	105247253	Silent	SNP	T	C3N-00704_TP	36	105247253	28550169	384	20881											
RBM20	0	.	GRCh38	chr10	110781235	110781235	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcctcagacccctggccAgccagcagtcatcttgggca	9	7	10	15	0	3	1	2	0	1	1	3	1	3	1	5	2	3	2	5	2	1	1			C3N-00704_TP	C3N-00704_NB	A	A																c.626A>C	p.Gln209Pro	p.Q209P	ENST00000369519	2/14	289	245	44	361	361	0	strelka-varscan-mutect	RBM20,missense_variant,p.Gln209Pro,ENST00000369519,NM_001134363.2;	C	ENST00000369519	Transcript	missense_variant	684/7233	626/3684	209/1227	Q/P	cAg/cCg	COSM4807509	1		1	RBM20	HGNC	HGNC:27424	protein_coding	YES	CCDS44477.1	ENSP00000358532	Q5T481		UPI00044338F1	NM_001134363.2	deleterious(0)		2/14													1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	63	110781235	110781235	A	C	1	0	0	0	0	1	0	0	0	13287	188	7	5		5	RBM20	10	110781235	Missense_Mutation	SNP	A	C3N-00704_TP	5533982	110781235	23016187	385	20882											
PNLIPRP1	0	.	GRCh38	chr10	116591794	116591794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtttgctatgaggacCtcgggtgcttttctgacact	9	13	11	8	1	1	3	0	2	1	1	2	4	1	4	1	2	2	3	1	2	3	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.73C>A	p.Leu25Ile	p.L25I	ENST00000528052	3/13	152	128	24	165	165	0	strelka-varscan-mutect	PNLIPRP1,missense_variant,p.Leu25Ile,ENST00000528052,NM_001303135.1;PNLIPRP1,missense_variant,p.Leu25Ile,ENST00000358834,NM_006229.3;PNLIPRP1,missense_variant,p.Leu25Ile,ENST00000534537,;PNLIPRP1,missense_variant,p.Leu25Ile,ENST00000531984,;PNLIPRP1,missense_variant,p.Leu25Ile,ENST00000530319,;PNLIPRP1,missense_variant,p.Leu25Ile,ENST00000527980,;PNLIPRP1,missense_variant,p.Leu25Ile,ENST00000471549,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000480870,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525157,;PNLIPRP1,upstream_gene_variant,,ENST00000510125,;PNLIPRP1,missense_variant,p.Leu25Ile,ENST00000497792,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000526223,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000531825,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525820,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000482159,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000484402,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000529584,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000530626,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000470678,;PNLIPRP1,upstream_gene_variant,,ENST00000482833,;	A	ENST00000528052	Transcript	missense_variant	144/1533	73/1404	25/467	L/I	Ctc/Atc		1		1	PNLIPRP1	HGNC	HGNC:9156	protein_coding	YES	CCDS7595.1	ENSP00000433933	P54315		UPI000012E6AA	NM_001303135.1	tolerated(0.13)		3/13		Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Prints_domain:PR00823,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF108,Superfamily_domains:SSF53474																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	63	116591794	116591794	C	A	1	0	0	0	0	1	0	0	0	12258	681	24	2		2	PNLIPRP1	10	116591794	Missense_Mutation	SNP	C	C3N-00704_TP	5810559	116591794	17205628	386	20883											
TACC2	0	.	GRCh38	chr10	122227998	122227998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgggcaccccttcagaagCgattgaaattgtaagtggag	11	10	12	8	1	1	2	1	1	0	1	1	4	1	3	2	2	1	2	2	2	3	5	rs150511831		C3N-00704_TP	C3N-00704_NB	C	C																c.7886C>A	p.Ala2629Glu	p.A2629E	ENST00000369005	14/23	104	84	20	131	131	0	strelka-varscan-mutect	TACC2,missense_variant,p.Ala2629Glu,ENST00000369005,NM_206862.3;TACC2,missense_variant,p.Ala2629Glu,ENST00000334433,;TACC2,missense_variant,p.Ala2633Glu,ENST00000515273,NM_001291877.1;TACC2,missense_variant,p.Ala2633Glu,ENST00000453444,;TACC2,missense_variant,p.Ala2584Glu,ENST00000515603,NM_001291876.1;TACC2,missense_variant,p.Ala775Glu,ENST00000513429,NM_206861.2;TACC2,missense_variant,p.Ala707Glu,ENST00000360561,NM_206860.2;TACC2,missense_variant,p.Ala719Glu,ENST00000368999,;TACC2,missense_variant,p.Ala775Glu,ENST00000358010,;TACC2,missense_variant,p.Ala329Glu,ENST00000369000,;TACC2,missense_variant,p.Ala333Glu,ENST00000369001,NM_001291879.1;TACC2,missense_variant,p.Ala719Glu,ENST00000369004,NM_001291878.1;TACC2,missense_variant,p.Ala707Glu,ENST00000260733,NM_006997.3;TACC2,missense_variant,p.Ala364Glu,ENST00000496913,;TACC2,downstream_gene_variant,,ENST00000514539,;TACC2,downstream_gene_variant,,ENST00000508411,;TACC2,non_coding_transcript_exon_variant,,ENST00000368997,;TACC2,downstream_gene_variant,,ENST00000440764,;	A	ENST00000369005	Transcript	missense_variant	8226/9673	7886/8847	2629/2948	A/E	gCg/gAg	rs150511831	1		1	TACC2	HGNC	HGNC:11523	protein_coding	YES	CCDS7626.1	ENSP00000358001	O95359		UPI0000246F6B	NM_206862.3	deleterious(0.01)		14/23		hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11																	MODERATE	1	SNV	1			1										PASS		rs150511831	.												A	3	1	63	122227998	122227998	C	A	1	0	0	0	0	1	0	0	0	15898	768	27	1		1	TACC2	10	122227998	Missense_Mutation	SNP	C	C3N-00704_TP	5636204	122227998	11569424	387	20884											
CTBP2	0	.	GRCh38	chr10	125026750	125026750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctcagaacacgggcctggCccaggttgggtgcgacagac	8	5	16	12	2	1	2	1	0	0	2	1	3	1	2	2	5	2	2	2	5	1	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1010G>A	p.Gly337Asp	p.G337D	ENST00000309035	1/9	227	183	44	331	331	0	strelka-varscan-mutect	CTBP2,missense_variant,p.Gly337Asp,ENST00000309035,NM_022802.2;CTBP2,intron_variant,,ENST00000337195,NM_001329.2;CTBP2,intron_variant,,ENST00000411419,NM_001083914.1;CTBP2,intron_variant,,ENST00000494626,NM_001290214.1;CTBP2,intron_variant,,ENST00000531469,NM_001290215.1;CTBP2,intron_variant,,ENST00000460976,;CTBP2,intron_variant,,ENST00000493552,;	T	ENST00000309035	Transcript	missense_variant	1141/3669	1010/2958	337/985	G/D	gGc/gAc		1		-1	CTBP2	HGNC	HGNC:2495	protein_coding	YES	CCDS7644.1	ENSP00000311825	P56545		UPI000013EE11	NM_022802.2	deleterious_low_confidence(0)		1/9																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	125026750	125026750	C	T	1	0	0	0	0	1	0	0	0	3804	739	26	3		3	CTBP2	10	125026750	Missense_Mutation	SNP	C	C3N-00704_TP	2798752	125026750	8770672	388	20885											
TCERG1L	0	.	GRCh38	chr10	131134424	131134424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttccctgttgtcttcaGaactggacccatcgctgttg	5	14	10	12	1	3	1	1	0	2	1	5	2	4	2	2	2	1	3	2	2	1	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1214C>A	p.Ser405Tyr	p.S405Y	ENST00000368642	8/12	211	176	35	260	260	0	strelka-varscan-mutect	TCERG1L,missense_variant,p.Ser405Tyr,ENST00000368642,NM_174937.3;TCERG1L,non_coding_transcript_exon_variant,,ENST00000483040,;	T	ENST00000368642	Transcript	missense_variant	1300/2618	1214/1761	405/586	S/Y	tCt/tAt		1		-1	TCERG1L	HGNC	HGNC:23533	protein_coding	YES	CCDS7662.2	ENSP00000357631	Q5VWI1		UPI00004589C8	NM_174937.3	deleterious(0.01)		8/12		hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	131134424	131134424	G	T	1	0	0	0	0	1	0	0	0	16093	942	33	2		2	TCERG1L	10	131134424	Missense_Mutation	SNP	G	C3N-00704_TP	6107674	131134424	2662998	389	20886											
ADGRA1	0	.	GRCh38	chr10	133129304	133129304	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagtgatgggagccctgcCctctacagctgccccacgca	7	6	12	16	1	1	1	0	1	1	0	1	2	1	2	4	2	5	3	4	2	1	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1476C>A	p.=	p.A492A	ENST00000392607	7/7	155	130	25	203	203	0	strelka-varscan-mutect	ADGRA1,synonymous_variant,p.=,ENST00000607359,;ADGRA1,synonymous_variant,p.=,ENST00000392607,NM_001083909.2;ADGRA1,synonymous_variant,p.=,ENST00000392606,NM_001291085.1;	A	ENST00000392607	Transcript	synonymous_variant	1912/4283	1476/1683	492/560	A	gcC/gcA		1		1	ADGRA1	HGNC	HGNC:13838	protein_coding	YES	CCDS41580.1	ENSP00000376384	Q86SQ6		UPI00003D41AD	NM_001083909.2			7/7																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	63	133129304	133129304	C	A	1	0	0	0	0	0	0	0	1	352	610	22	2		2	ADGRA1	10	133129304	Silent	SNP	C	C3N-00704_TP	1994880	133129304	668118	390	20887											
CYP2E1	0	.	GRCh38	chr10	133527509	133527509	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccccaggccctttcccGcttcccatcatcgggaacct	5	9	7	20	2	1	0	1	0	0	0	4	1	3	1	6	2	2	1	6	2	1	2	rs137875795		C3N-00704_TP	C3N-00704_NB	G	G																c.114G>T	p.=	p.P38P	ENST00000463117	3/11	135	124	11	155	155	0	strelka-varscan-mutect	CYP2E1,missense_variant,p.Ala5Ser,ENST00000421586,;CYP2E1,missense_variant,p.Ala5Ser,ENST00000418356,;CYP2E1,synonymous_variant,p.=,ENST00000463117,;CYP2E1,synonymous_variant,p.=,ENST00000252945,NM_000773.3;CYP2E1,synonymous_variant,p.=,ENST00000541261,;RP11-108K14.12,non_coding_transcript_exon_variant,,ENST00000622716,;CYP2E1,non_coding_transcript_exon_variant,,ENST00000477500,;CYP2E1,upstream_gene_variant,,ENST00000480558,;CYP2E1,synonymous_variant,p.=,ENST00000541080,;CYP2E1,upstream_gene_variant,,ENST00000368520,;SCART1,downstream_gene_variant,,ENST00000488261,;	T	ENST00000463117	Transcript	synonymous_variant	386/1912	114/1482	38/493	P	ccG/ccT	rs137875795	1		1	CYP2E1	HGNC	HGNC:2631	protein_coding	YES	CCDS7686.1	ENSP00000440689	P05181		UPI0000128291				3/11		Low_complexity_(Seg):seg,hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF19,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	LOW	1	SNV	5			1										PASS		rs137875795	.												T	2	4	63	133527509	133527509	G	T	1	0	0	0	0	0	0	0	1	3973	1074	38	1		1	CYP2E1	10	133527509	Silent	SNP	G	C3N-00704_TP	398205	133527509	269913	391	20888											
RIC8A	0	.	GRCh38	chr11	212685	212685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcggaacaagcttgtccGcctcatgacacacctggaca	10	7	10	14	2	1	1	1	1	0	0	2	3	2	3	3	2	3	2	3	2	2	1	rs367798950		C3N-00704_TP	C3N-00704_NB	G	G																c.1154G>T	p.Arg385Leu	p.R385L	ENST00000325207	7/10	326	274	52	378	378	0	strelka-varscan-mutect	RIC8A,missense_variant,p.Arg379Leu,ENST00000526104,NM_001286134.1;RIC8A,missense_variant,p.Arg385Leu,ENST00000325207,NM_021932.5;RIC8A,missense_variant,p.Arg373Leu,ENST00000527696,;RIC8A,missense_variant,p.Arg274Leu,ENST00000527728,;SIRT3,downstream_gene_variant,,ENST00000382743,NM_012239.5;SIRT3,downstream_gene_variant,,ENST00000525319,;SIRT3,downstream_gene_variant,,ENST00000524564,;SIRT3,downstream_gene_variant,,ENST00000532956,;SIRT3,downstream_gene_variant,,ENST00000529382,NM_001017524.2;RIC8A,upstream_gene_variant,,ENST00000524854,;RIC8A,downstream_gene_variant,,ENST00000527468,;RIC8A,downstream_gene_variant,,ENST00000530889,;RIC8A,downstream_gene_variant,,ENST00000528357,;RIC8A,upstream_gene_variant,,ENST00000529275,;RIC8A,downstream_gene_variant,,ENST00000626818,;RIC8A,downstream_gene_variant,,ENST00000611346,;RIC8A,upstream_gene_variant,,ENST00000531541,;RIC8A,non_coding_transcript_exon_variant,,ENST00000530149,;RIC8A,non_coding_transcript_exon_variant,,ENST00000532241,;SIRT3,downstream_gene_variant,,ENST00000529937,;SIRT3,downstream_gene_variant,,ENST00000532837,;RIC8A,downstream_gene_variant,,ENST00000526982,;RIC8A,downstream_gene_variant,,ENST00000527039,;RIC8A,upstream_gene_variant,,ENST00000526557,;RIC8A,downstream_gene_variant,,ENST00000532373,;	T	ENST00000325207	Transcript	missense_variant	1479/2702	1154/1614	385/537	R/L	cGc/cTc	rs367798950,COSM2112354	1		1	RIC8A	HGNC	HGNC:29550	protein_coding	YES	CCDS7690.1	ENSP00000325941	Q9NPQ8		UPI0000037C19	NM_021932.5	deleterious(0)		7/10		hmmpanther:PTHR12425:SF4,hmmpanther:PTHR12425,Gene3D:1.25.10.10,Pfam_domain:PF10165,Superfamily_domains:SSF48371,Prints_domain:PR01802											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs367798950	.												T	3	4	63	212685	212685	G	T	1	0	0	0	0	1	0	0	0	13529	1087	38	1		1	RIC8A	11	212685	Missense_Mutation	SNP	G	C3N-00704_TP		212685	134873937	392	20889											
PHRF1	0	.	GRCh38	chr11	606497	606497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaggagccagtgcctGacctgctgggcagcatcctg	7	7	16	11	0	0	1	0	1	0	0	1	4	1	4	4	4	4	3	4	4	0	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1510G>T	p.Asp504Tyr	p.D504Y	ENST00000264555	13/18	169	141	28	228	228	0	strelka-varscan-mutect	PHRF1,missense_variant,p.Asp504Tyr,ENST00000264555,NM_001286581.1;PHRF1,missense_variant,p.Asp503Tyr,ENST00000416188,NM_020901.3;PHRF1,missense_variant,p.Asp502Tyr,ENST00000413872,NM_001286582.1;PHRF1,missense_variant,p.Asp500Tyr,ENST00000533464,NM_001286583.1;PHRF1,missense_variant,p.Asp504Tyr,ENST00000534320,;PHRF1,non_coding_transcript_exon_variant,,ENST00000532550,;	T	ENST00000264555	Transcript	missense_variant	1638/5523	1510/4950	504/1649	D/Y	Gac/Tac		1		1	PHRF1	HGNC	HGNC:24351	protein_coding	YES	CCDS65988.1	ENSP00000264555	Q9P1Y6	A0A024RCA1	UPI000041A715	NM_001286581.1	deleterious(0)		13/18		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	606497	606497	G	T	1	0	0	0	0	1	0	0	0	11949	1290	45	2		2	PHRF1	11	606497	Missense_Mutation	SNP	G	C3N-00704_TP	393812	606497	134480125	393	20890											
MRGPRE	0	.	GRCh38	chr11	3228224	3228224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcataaggctggccccacaCatggtgcaacacagcagagc	13	4	11	13	0	0	1	0	0	0	1	0	1	0	1	2	3	5	4	2	3	2	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.576G>T	p.Met192Ile	p.M192I	ENST00000389832	2/2	81	69	12	140	140	0	strelka-mutect	MRGPRE,missense_variant,p.Met192Ile,ENST00000389832,NM_001039165.2;AC109309.4,intron_variant,,ENST00000418995,;	A	ENST00000389832	Transcript	missense_variant	883/1409	576/939	192/312	M/I	atG/atT		1		-1	MRGPRE	HGNC	HGNC:30694	protein_coding	YES	CCDS41603.2	ENSP00000374482	Q86SM8	W4VSQ4	UPI000015F138	NM_001039165.2	deleterious(0.04)		2/2		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF26,hmmpanther:PTHR11334,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR02111																	MODERATE	1	SNV	2			1										PASS		rs957686838	.												A	3	1	63	3228224	3228224	C	A	1	0	0	0	0	1	0	0	0	9730	478	17	2		2	MRGPRE	11	3228224	Missense_Mutation	SNP	C	C3N-00704_TP	2621727	3228224	131858398	394	20891											
OR52J3	0	.	GRCh38	chr11	5047405	5047405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaaccccatcatttatGgggtgaggaccaaacagatt	12	10	8	11	0	2	2	2	1	1	1	3	3	2	3	3	3	2	0	3	3	3	3	rs377359439		C3N-00704_TP	C3N-00704_NB	G	G																c.880G>T	p.Gly294Trp	p.G294W	ENST00000380370	1/1	91	76	15	123	123	0	strelka-varscan-mutect	OR52J3,missense_variant,p.Gly294Trp,ENST00000380370,NM_001001916.2;	T	ENST00000380370	Transcript	missense_variant	880/936	880/936	294/311	G/W	Ggg/Tgg	rs377359439	1		1	OR52J3	HGNC	HGNC:14799	protein_coding	YES	CCDS31370.1	ENSP00000369728	Q8NH60		UPI0000046AE0	NM_001001916.2	deleterious(0)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF9,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs377359439	.												T	3	4	63	5047405	5047405	G	T	1	0	0	0	0	1	0	0	0	11195	1348	47	2		2	OR52J3	11	5047405	Missense_Mutation	SNP	G	C3N-00704_TP	1819181	5047405	130039217	395	20892											
HBB	0	.	GRCh38	chr11	5225720	5225720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacacagaccagcacgttgcCcaggagctgtgggaggaaga	12	4	14	11	1	0	2	0	0	0	2	0	5	0	5	2	3	3	3	2	3	1	1	rs35017910		C3N-00704_TP	C3N-00704_NB	C	C																c.322G>T	p.Gly108Cys	p.G108C	ENST00000335295	3/3	475	406	69	614	613	1	strelka-varscan-mutect	HBB,missense_variant,p.Gly108Cys,ENST00000335295,NM_000518.4;HBB,downstream_gene_variant,,ENST00000380315,;CoTC_ribozyme,upstream_gene_variant,,ENST00000408104,;HBB,3_prime_UTR_variant,,ENST00000633227,;HBB,non_coding_transcript_exon_variant,,ENST00000475226,;HBB,downstream_gene_variant,,ENST00000485743,;	A	ENST00000335295	Transcript	missense_variant	372/628	322/444	108/147	G/C	Ggc/Tgc	rs35017910,HbVar.478	1		-1	HBB	HGNC	HGNC:4827	protein_coding	YES	CCDS7753.1	ENSP00000333994	P68871	D9YZU5	UPI00000015C9	NM_000518.4	deleterious(0.02)		3/3		Gene3D:1.10.490.10,Pfam_domain:PF00042,PROSITE_profiles:PS01033,hmmpanther:PTHR11442,hmmpanther:PTHR11442:SF50,Superfamily_domains:SSF46458										other		108833557997					MODERATE	1	SNV	1			1										PASS		rs35017910	.												A	3	1	63	5225720	5225720	C	A	1	0	0	0	0	1	0	0	0	6864	623	22	2		2	HBB	11	5225720	Missense_Mutation	SNP	C	C3N-00704_TP	178315	5225720	129860902	396	20893											
HBB	0	.	GRCh38	chr11	5226935	5226935	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttgataccaacctgccCagggcctcaccaccaacttc	11	7	5	18	0	1	1	1	1	0	0	2	1	1	1	7	1	5	0	7	1	4	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.87G>A	p.=	p.L29L	ENST00000335295	1/3	546	456	90	644	644	0	strelka-varscan-mutect	HBB,synonymous_variant,p.=,ENST00000335295,NM_000518.4;HBB,synonymous_variant,p.=,ENST00000380315,;CoTC_ribozyme,upstream_gene_variant,,ENST00000408104,;HBB,non_coding_transcript_exon_variant,,ENST00000485743,;HBB,intron_variant,,ENST00000633227,;HBB,upstream_gene_variant,,ENST00000475226,;	T	ENST00000335295	Transcript	synonymous_variant	137/628	87/444	29/147	L	ctG/ctA		1		-1	HBB	HGNC	HGNC:4827	protein_coding	YES	CCDS7753.1	ENSP00000333994	P68871	D9YZU5	UPI00000015C9	NM_000518.4			1/3		Gene3D:1.10.490.10,Pfam_domain:PF00042,PROSITE_profiles:PS01033,hmmpanther:PTHR11442,hmmpanther:PTHR11442:SF50,Superfamily_domains:SSF46458																	LOW	1	SNV	1			1										PASS		rs1191121382	.												T	2	4	63	5226935	5226935	C	T	1	0	0	0	0	0	0	0	1	6864	608	21	3		3	HBB	11	5226935	Silent	SNP	C	C3N-00704_TP	1215	5226935	129859687	397	20894											
OR51B5	0	.	GRCh38	chr11	5343147	5343147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagaggtatatctaagaggGttgcagatggcaataaaacg	16	8	12	5	1	1	3	0	0	1	3	1	3	1	3	0	3	2	4	0	3	6	5	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.378C>A	p.Asn126Lys	p.N126K	ENST00000300773	1/1	91	82	9	144	144	0	strelka-mutect	OR51B5,missense_variant,p.Asn126Lys,ENST00000300773,NM_001005567.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,non_coding_transcript_exon_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	T	ENST00000300773	Transcript	missense_variant	378/939	378/939	126/312	N/K	aaC/aaA		1		-1	OR51B5	HGNC	HGNC:19599	protein_coding	YES	CCDS31378.1	ENSP00000300773	Q9H339		UPI000013E697	NM_001005567.2	tolerated(0.06)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF76,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												T	3	4	63	5343147	5343147	G	T	1	0	0	0	0	1	0	0	0	11165	1252	44	2		2	OR51B5	11	5343147	Missense_Mutation	SNP	G	C3N-00704_TP	116212	5343147	129743475	398	20895											
OR52N5	0	.	GRCh38	chr11	5777911	5777911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgaaagccttctgccgagCatctgatgaagagaggctga	11	8	13	9	1	2	5	0	4	2	1	2	7	2	5	2	1	3	3	2	1	2	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.724G>T	p.Ala242Ser	p.A242S	ENST00000317093	1/1	149	107	42	179	179	0	strelka-varscan-mutect	OR52N5,missense_variant,p.Ala242Ser,ENST00000317093,NM_001001922.2;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	A	ENST00000317093	Transcript	missense_variant	757/1034	724/975	242/324	A/S	Gct/Tct		1		-1	OR52N5	HGNC	HGNC:15231	protein_coding	YES	CCDS31397.1	ENSP00000322866	Q8NH56	A0A126GVK9	UPI0000041BF9	NM_001001922.2	deleterious(0.02)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF18,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	63	5777911	5777911	C	A	1	0	0	0	0	1	0	0	0	11203	710	25	2		2	OR52N5	11	5777911	Missense_Mutation	SNP	C	C3N-00704_TP	434764	5777911	129308711	399	20896											
ABCC8	0	.	GRCh38	chr11	17428572	17428572	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggcactcaccaccgccTggtacttgctggctgggccc	4	7	13	17	2	1	0	1	0	0	0	1	0	1	0	5	4	2	4	5	4	1	2	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1916A>C	p.Gln639Pro	p.Q639P	ENST00000302539	13/39	160	133	27	192	192	0	strelka-varscan-mutect	ABCC8,missense_variant,p.Gln639Pro,ENST00000302539,NM_001287174.1;ABCC8,missense_variant,p.Gln639Pro,ENST00000389817,NM_000352.4;ABCC8,downstream_gene_variant,,ENST00000528202,;ABCC8,missense_variant,p.Gln629Pro,ENST00000527905,;ABCC8,downstream_gene_variant,,ENST00000532728,;ABCC8,downstream_gene_variant,,ENST00000635881,;ABCC8,upstream_gene_variant,,ENST00000531911,;ABCC8,downstream_gene_variant,,ENST00000526002,;	G	ENST00000302539	Transcript	missense_variant	1985/4923	1916/4749	639/1582	Q/P	cAg/cCg		1		-1	ABCC8	HGNC	HGNC:59	protein_coding	YES	CCDS73264.1	ENSP00000303960	Q09428		UPI00015DFF64	NM_001287174.1	tolerated(0.26)		13/39		Prints_domain:PR01093																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	63	17428572	17428572	T	G	1	0	0	0	0	1	0	0	0	62	1580	55	5		5	ABCC8	11	17428572	Missense_Mutation	SNP	T	C3N-00704_TP	11650661	17428572	117658050	400	20897											
KCNC1	0	.	GRCh38	chr11	17736263	17736263	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgtgtgcgggccgctctaCgaggaggagctggccttctg	5	8	17	11	4	2	0	0	0	2	0	2	4	2	2	2	4	3	2	2	4	1	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.261C>A	p.Tyr87Ter	p.Y87*	ENST00000265969	1/4	354	298	56	446	446	0	strelka-varscan-mutect	KCNC1,stop_gained,p.Tyr87Ter,ENST00000379472,NM_004976.4;KCNC1,stop_gained,p.Tyr87Ter,ENST00000265969,NM_001112741.1;	A	ENST00000265969	Transcript	stop_gained	1452/3887	261/1758	87/585	Y/*	taC/taA		1		1	KCNC1	HGNC	HGNC:6233	protein_coding	YES	CCDS44547.1	ENSP00000265969	P48547		UPI0000E2291F	NM_001112741.1			1/4		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF157,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	63	17736263	17736263	C	A	1	0	0	0	0	0	1	0	0	7930	547	19	1		1	KCNC1	11	17736263	Nonsense_Mutation	SNP	C	C3N-00704_TP	307691	17736263	117350359	401	20898											
NELL1	0	.	GRCh38	chr11	21573316	21573316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gataacatcacctatgacatCagaaaaacttgcctggacag	16	8	7	10	0	2	2	2	1	0	1	2	4	2	3	2	1	3	0	2	1	4	3	rs759298291		C3N-00704_TP	C3N-00704_NB	C	C																c.2373C>G	p.Ile791Met	p.I791M	ENST00000298925	20/21	425	382	43	437	437	0	strelka-varscan-mutect	NELL1,missense_variant,p.Ile791Met,ENST00000298925,NM_001288713.1;NELL1,missense_variant,p.Ile706Met,ENST00000325319,NM_001288714.1;NELL1,missense_variant,p.Ile763Met,ENST00000357134,NM_006157.4;NELL1,missense_variant,p.Ile716Met,ENST00000532434,NM_201551.2;NELL1,non_coding_transcript_exon_variant,,ENST00000529218,;	G	ENST00000298925	Transcript	missense_variant	2526/3329	2373/2517	791/838	I/M	atC/atG	rs759298291	1		1	NELL1	HGNC	HGNC:7750	protein_coding	YES	CCDS73267.1	ENSP00000298925		J3KNC5	UPI0000228C6F	NM_001288713.1	deleterious(0.02)		20/21		hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2																	MODERATE	1	SNV	2			1										PASS		rs759298291	.												G	3	3	63	21573316	21573316	C	G	1	0	0	0	0	1	0	0	0	10364	816	29	4		4	NELL1	11	21573316	Missense_Mutation	SNP	C	C3N-00704_TP	3837053	21573316	113513306	402	20899											
PAX6	0	.	GRCh38	chr11	31801664	31801664	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttatactgggctattttgCttacaacttctggagtcgct	7	16	9	9	1	1	0	0	0	1	0	2	1	1	1	0	2	4	4	0	2	5	7	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.296G>T	p.Ser99Ile	p.S99I	ENST00000419022	7/14	693	555	138	854	852	2	strelka-varscan-mutect	PAX6,missense_variant,p.Ser99Ile,ENST00000419022,NM_001310158.1,NM_001310161.1,NM_001258462.1;PAX6,missense_variant,p.Ser99Ile,ENST00000606377,NM_001310161.1,NM_001258463.1;PAX6,missense_variant,p.Ser99Ile,ENST00000379129,;PAX6,missense_variant,p.Ser99Ile,ENST00000379107,;PAX6,missense_variant,p.Ser85Ile,ENST00000379132,NM_001127612.1;PAX6,missense_variant,p.Ser85Ile,ENST00000379123,NM_001258464.1,NM_000280.4;PAX6,missense_variant,p.Ser85Ile,ENST00000379109,;PAX6,missense_variant,p.Ser99Ile,ENST00000379115,NM_001604.5;PAX6,missense_variant,p.Ser85Ile,ENST00000241001,;PAX6,missense_variant,p.Ser85Ile,ENST00000379111,NM_001258465.1;PAX6,intron_variant,,ENST00000455099,;PAX6,downstream_gene_variant,,ENST00000525535,;PAX6,downstream_gene_variant,,ENST00000524853,;PAX6,downstream_gene_variant,,ENST00000423822,;PAX6,downstream_gene_variant,,ENST00000438681,;PAX6,non_coding_transcript_exon_variant,,ENST00000471303,;PAX6,non_coding_transcript_exon_variant,,ENST00000481563,;PAX6,non_coding_transcript_exon_variant,,ENST00000530714,;PAX6,non_coding_transcript_exon_variant,,ENST00000534353,;PAX6,downstream_gene_variant,,ENST00000533156,;PAX6,upstream_gene_variant,,ENST00000531910,;PAX6,upstream_gene_variant,,ENST00000530373,;PAX6,non_coding_transcript_exon_variant,,ENST00000533333,;PAX6,non_coding_transcript_exon_variant,,ENST00000470027,;PAX6,non_coding_transcript_exon_variant,,ENST00000494377,;PAX6,non_coding_transcript_exon_variant,,ENST00000534390,;PAX6,intron_variant,,ENST00000464174,;PAX6,downstream_gene_variant,,ENST00000532175,;PAX6,downstream_gene_variant,,ENST00000527769,;	A	ENST00000419022	Transcript	missense_variant	765/6922	296/1311	99/436	S/I	aGc/aTc		1		-1	PAX6	HGNC	HGNC:8620	protein_coding	YES	CCDS31452.1	ENSP00000404100	P26367	F1T0F8	UPI000002B0A0	NM_001310158.1,NM_001310161.1,NM_001258462.1	tolerated(0.08)		7/14		Gene3D:1.10.10.10,Pfam_domain:PF00292,PROSITE_profiles:PS51057,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF294,SMART_domains:SM00351,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	31801664	31801664	C	A	1	0	0	0	0	1	0	0	0	11568	797	28	2		2	PAX6	11	31801664	Missense_Mutation	SNP	C	C3N-00704_TP	10228348	31801664	103284958	403	20900											
C1QTNF4	0	.	GRCh38	chr11	47590179	47590179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgccgcgtcgaagtcgccgCcaatgttgacgaactcggtg	7	7	13	14	8	0	1	0	1	0	0	3	3	0	1	4	1	1	1	4	1	3	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.632G>A	p.Gly211Asp	p.G211D	ENST00000302514	2/2	88	77	11	111	111	0	strelka-varscan-mutect	C1QTNF4,missense_variant,p.Gly211Asp,ENST00000302514,NM_031909.2;C1QTNF4,intron_variant,,ENST00000530097,;FAM180B,downstream_gene_variant,,ENST00000538490,NM_001164379.1;	T	ENST00000302514	Transcript	missense_variant	1149/1664	632/990	211/329	G/D	gGc/gAc		1		-1	C1QTNF4	HGNC	HGNC:14346	protein_coding	YES	CCDS7942.1	ENSP00000302274	Q9BXJ3		UPI00000746B6	NM_031909.2	deleterious(0)		2/2		Gene3D:2.60.120.40,Pfam_domain:PF00386,PROSITE_profiles:PS50871,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF551,SMART_domains:SM00110,Superfamily_domains:SSF49842																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	47590179	47590179	C	T	1	0	0	0	0	1	0	0	0	1943	739	26	3		3	C1QTNF4	11	47590179	Missense_Mutation	SNP	C	C3N-00704_TP	15788515	47590179	87496443	404	20901											
OR4C3	0	.	GRCh38	chr11	48325401	48325401	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatgtggccatctgtaagcCcctgcacaatactaccatca	11	10	6	14	0	2	0	1	0	1	0	2	0	2	0	4	1	4	2	4	1	5	4	rs140275122		C3N-00704_TP	C3N-00704_NB	C	C																c.461C>A	p.Pro154His	p.P154H	ENST00000319856	1/1	109	82	27	172	172	0	strelka-varscan-mutect	OR4C3,missense_variant,p.Pro154His,ENST00000319856,NM_001004702.1;OR4C3,missense_variant,p.Pro17His,ENST00000611380,;	A	ENST00000319856	Transcript	missense_variant	482/1036	461/990	154/329	P/H	cCc/cAc	rs140275122	1		1	OR4C3	HGNC	HGNC:14697	protein_coding	YES	CCDS31489.1	ENSP00000321419	Q8NH37	A0A126GVR6	UPI0000061EA2	NM_001004702.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF162,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs140275122	.												A	3	1	63	48325401	48325401	C	A	1	0	0	0	0	1	0	0	0	11126	623	22	2		2	OR4C3	11	48325401	Missense_Mutation	SNP	C	C3N-00704_TP	735222	48325401	86761221	405	20902											
TRIM49B	0	.	GRCh38	chr11	49037644	49037644	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcacctcgggcaaatattaCtgggaggtccatgtagggga	10	10	13	8	1	1	0	1	0	0	0	3	2	2	2	2	5	1	2	2	5	4	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1026C>G	p.Tyr342Ter	p.Y342*	ENST00000622138	8/8	381	315	66	436	436	0	strelka-varscan-mutect	TRIM49B,stop_gained,p.Tyr342Ter,ENST00000622138,;TRIM49B,stop_gained,p.Tyr342Ter,ENST00000332682,NM_001206626.1;	G	ENST00000622138	Transcript	stop_gained	1355/2162	1026/1359	342/452	Y/*	taC/taG		1		1	TRIM49B	HGNC	HGNC:42955	protein_coding	YES	CCDS55762.1	ENSP00000481457	A6NDI0		UPI000013EEA1				8/8		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407																	HIGH	1	SNV	5			1										PASS		rs1468850389	.												G	4	3	63	49037644	49037644	C	G	1	0	0	0	0	0	1	0	0	17015	576	20	4		4	TRIM49B	11	49037644	Nonsense_Mutation	SNP	C	C3N-00704_TP	712243	49037644	86048978	406	20903											
FOLH1	0	.	GRCh38	chr11	49146916	49146916	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgactcccctgcatacttgTtgtggctgcttggagcatag	7	13	11	10	0	0	1	0	1	0	0	1	2	1	2	2	2	4	5	2	2	2	5	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.2093A>T	p.Asn698Ile	p.N698I	ENST00000256999	19/19	112	88	24	107	107	0	strelka-varscan-mutect	FOLH1,missense_variant,p.Asn683Ile,ENST00000340334,NM_001193471.1;FOLH1,missense_variant,p.Asn698Ile,ENST00000256999,NM_004476.1;FOLH1,missense_variant,p.Asn667Ile,ENST00000356696,NM_001014986.1;FOLH1,missense_variant,p.Asn390Ile,ENST00000343844,NM_001193473.1;FOLH1,missense_variant,p.Asn652Ile,ENST00000533034,NM_001193472.1;FOLH1,3_prime_UTR_variant,,ENST00000525826,;FOLH1,non_coding_transcript_exon_variant,,ENST00000458311,;	A	ENST00000256999	Transcript	missense_variant	2354/2635	2093/2253	698/750	N/I	aAc/aTc		1		-1	FOLH1	HGNC	HGNC:3788	protein_coding	YES	CCDS7946.1	ENSP00000256999	Q04609		UPI0000000A01	NM_004476.1	deleterious(0)		19/19		Gene3D:3kasA03,Pfam_domain:PF04253,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF36,Superfamily_domains:SSF47672																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	49146916	49146916	T	A	1	0	0	0	0	1	0	0	0	5840	1725	60	4		4	FOLH1	11	49146916	Missense_Mutation	SNP	T	C3N-00704_TP	109272	49146916	85939706	407	20904											
OR4C13	0	.	GRCh38	chr11	49952581	49952581	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcactgccagcccatcactGagatcccccatgtacttttt	9	12	5	15	0	2	1	2	1	0	1	3	2	3	1	4	0	3	1	4	0	1	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.159G>T	p.=	p.L53L	ENST00000555099	1/1	289	226	63	275	275	0	strelka-varscan-mutect	OR4C13,synonymous_variant,p.=,ENST00000555099,NM_001001955.2;	T	ENST00000555099	Transcript	synonymous_variant	191/1029	159/930	53/309	L	ctG/ctT		1		1	OR4C13	HGNC	HGNC:15169	protein_coding	YES	CCDS31495.1	ENSP00000452277	Q8NGP0		UPI000013F7D1	NM_001001955.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF60,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	63	49952581	49952581	G	T	1	0	0	0	0	0	0	0	1	11124	1277	45	2		2	OR4C13	11	49952581	Silent	SNP	G	C3N-00704_TP	805665	49952581	85134041	408	20905											
OR4C46	0	.	GRCh38	chr11	54603919	54603919	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatagatgacaaaaaacacaAcaaatatgattttctgcatc	19	11	4	7	0	1	3	0	2	1	1	2	3	1	3	0	0	3	1	0	0	8	5			C3N-00704_TP	C3N-00704_NB	A	A																c.80T>C	p.Val27Ala	p.V27A	ENST00000328188	1/1	259	210	49	288	288	0	strelka-varscan-mutect	OR4C46,missense_variant,p.Val27Ala,ENST00000328188,NM_001004703.1;	G	ENST00000328188	Transcript	missense_variant	80/930	80/930	27/309	V/A	gTt/gCt	COSM4033492	1		-1	OR4C46	HGNC	HGNC:31271	protein_coding	YES	CCDS73288.1	ENSP00000329056	A6NHA9		UPI000013F6F8	NM_001004703.1	tolerated_low_confidence(0.43)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR26451:SF284,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE	1	SNV			1	1										PASS		rs1346328521	.												G	3	3	63	54603919	54603919	A	G	1	0	0	0	0	1	0	0	0	11127	43	2	5		5	OR4C46	11	54603919	Missense_Mutation	SNP	A	C3N-00704_TP	4651338	54603919	80482703	409	20906											
OR5L2	0	.	GRCh38	chr11	55827582	55827582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgtgatggcctatgacCgctttgtggccatctgtaac	6	12	12	11	2	1	2	0	2	1	0	1	2	1	2	4	3	1	2	4	3	2	3	rs536857563		C3N-00704_TP	C3N-00704_NB	C	C																c.364C>A	p.Arg122Ser	p.R122S	ENST00000378397	1/1	199	163	36	241	241	0	strelka-varscan-mutect	OR5L2,missense_variant,p.Arg122Ser,ENST00000378397,NM_001004739.1;	A	ENST00000378397	Transcript	missense_variant	364/936	364/936	122/311	R/S	Cgc/Agc	rs536857563,COSM1628056	1		1	OR5L2	HGNC	HGNC:8351	protein_coding	YES	CCDS31511.1	ENSP00000367650	Q8NGL0		UPI0000041C49	NM_001004739.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF368,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237											0,1						MODERATE	1	SNV			0,1	1										PASS		rs536857563	.												A	3	1	63	55827582	55827582	C	A	1	0	0	0	0	1	0	0	0	11240	652	23	1		1	OR5L2	11	55827582	Missense_Mutation	SNP	C	C3N-00704_TP	1223663	55827582	79259040	410	20907											
OR5W2	0	.	GRCh38	chr11	55913801	55913801	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaataggaagaacttggcCggaaatacataaagagcaga	19	5	12	5	1	0	4	0	0	0	4	0	7	0	6	1	3	3	1	1	3	8	4	rs202102548		C3N-00704_TP	C3N-00704_NB	C	C																c.782G>T	p.Arg261Leu	p.R261L	ENST00000344514	1/1	225	204	21	255	255	0	strelka-varscan-mutect	OR5W2,missense_variant,p.Arg261Leu,ENST00000344514,NM_001001960.1;	A	ENST00000344514	Transcript	missense_variant	782/933	782/933	261/310	R/L	cGg/cTg	rs202102548,COSM218332	1		-1	OR5W2	HGNC	HGNC:15299	protein_coding	YES	CCDS31513.1	ENSP00000342448	Q8NH69		UPI0000061E8D	NM_001001960.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF58,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs202102548	.												A	3	1	63	55913801	55913801	C	A	1	0	0	0	0	1	0	0	0	11253	652	23	1		1	OR5W2	11	55913801	Missense_Mutation	SNP	C	C3N-00704_TP	86219	55913801	79172821	411	20908											
OR8H1	0	.	GRCh38	chr11	56290914	56290914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagctggaggtccaggCggattatcaatatcatcccc	10	10	11	10	1	2	1	2	1	0	0	4	3	4	3	3	4	1	1	3	4	4	2	rs191885508		C3N-00704_TP	C3N-00704_NB	C	C																c.149G>A	p.Arg50His	p.R50H	ENST00000313022	1/1	232	209	23	258	258	0	strelka-varscan-mutect	OR8H1,missense_variant,p.Arg50His,ENST00000313022,NM_001005199.1;OR8H1,missense_variant,p.Arg46His,ENST00000610894,;	T	ENST00000313022	Transcript	missense_variant	177/1038	149/936	50/311	R/H	cGc/cAc	rs191885508,COSM1298174,COSM5675086	1		-1	OR8H1	HGNC	HGNC:14824	protein_coding	YES	CCDS31526.1	ENSP00000323595	Q8NGG4	A0A126GVW6	UPI0000041BC0	NM_001005199.1	tolerated(0.23)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF11,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											0,1,1						MODERATE	1	SNV			0,1,1	1										PASS		rs191885508	.												T	3	4	63	56290914	56290914	C	T	1	0	0	0	0	1	0	0	0	11305	768	27	1		1	OR8H1	11	56290914	Missense_Mutation	SNP	C	C3N-00704_TP	377113	56290914	78795708	412	20909											
OR8J1	0	.	GRCh38	chr11	56360720	56360720	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttctacagctattgtGgtttcatcttatgtattctc	6	20	7	8	0	4	0	1	0	3	0	5	0	4	0	0	2	2	4	0	2	4	9	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.474G>A	p.=	p.V158V	ENST00000303039	1/1	85	73	12	117	117	0	strelka-mutect	OR8J1,synonymous_variant,p.=,ENST00000303039,NM_001005205.2;RPL5P29,downstream_gene_variant,,ENST00000482972,;	A	ENST00000303039	Transcript	synonymous_variant	506/1074	474/951	158/316	V	gtG/gtA		1		1	OR8J1	HGNC	HGNC:14855	protein_coding	YES	CCDS31529.1	ENSP00000304060	Q8NGP2		UPI000004BE58	NM_001005205.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF317,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs1386315339	.												A	2	1	63	56360720	56360720	G	A	1	0	0	0	0	0	0	0	1	11309	1335	47	3		3	OR8J1	11	56360720	Silent	SNP	G	C3N-00704_TP	69806	56360720	78725902	413	20910											
OR8U1	0	.	GRCh38	chr11	56376295	56376295	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgttcatcatttctgcCatcctgaggatgcattcagc	9	14	7	11	0	4	1	3	1	1	0	5	2	5	2	2	1	4	2	2	1	1	4			C3N-00704_TP	C3N-00704_NB	C	C																c.672C>T	p.=	p.A224A	ENST00000302270	1/1	261	201	60	266	266	0	strelka-varscan-mutect	OR8U1,synonymous_variant,p.=,ENST00000302270,NM_001005204.1;	T	ENST00000302270	Transcript	synonymous_variant	672/930	672/930	224/309	A	gcC/gcT	COSM5658134	1		1	OR8U1	HGNC	HGNC:19611	protein_coding	YES	CCDS41647.1	ENSP00000304188	Q8NH10		UPI0000061EEF	NM_001005204.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF360,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	63	56376295	56376295	C	T	1	0	0	0	0	0	0	0	1	11314	581	21	3		3	OR8U1	11	56376295	Silent	SNP	C	C3N-00704_TP	15575	56376295	78710327	414	20911											
OR10W1	0	.	GRCh38	chr11	58267375	58267375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagtgctcaatgccctgagCctggcagaatggcagagaga	12	6	14	9	0	1	4	1	1	0	3	1	6	1	4	2	2	3	3	2	2	3	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.484G>T	p.Ala162Ser	p.A162S	ENST00000395079	1/1	136	108	28	143	143	0	strelka-varscan-mutect	OR10W1,missense_variant,p.Ala162Ser,ENST00000395079,NM_207374.3;	A	ENST00000395079	Transcript	missense_variant	886/1469	484/918	162/305	A/S	Gct/Tct		1		-1	OR10W1	HGNC	HGNC:15139	protein_coding	YES	CCDS7968.1	ENSP00000378516	Q8NGF6		UPI000004B229	NM_207374.3	tolerated(0.87)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF165,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1015816300	.												A	3	1	63	58267375	58267375	C	A	1	0	0	0	0	1	0	0	0	10998	739	26	2		2	OR10W1	11	58267375	Missense_Mutation	SNP	C	C3N-00704_TP	1891080	58267375	76819247	415	20912											
OR5A1	0	.	GRCh38	chr11	59443827	59443827	+	Missense_Mutation	SNP	C	C	A																															gttcctccaactccttatctCctatggttacatagtgtctg																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.659C>A	p.Ser220Tyr	p.S220Y	ENST00000302030	1/1	162	147	15	190	190	0	strelka-varscan-mutect	OR5A1,missense_variant,p.Ser220Tyr,ENST00000302030,NM_001004728.1;	A	ENST00000302030	Transcript	missense_variant	684/1051	659/948	220/315	S/Y	tCc/tAc		1		1	OR5A1	HGNC	HGNC:8319	protein_coding	YES	CCDS31561.1	ENSP00000303096	Q8NGJ0		UPI0000041C97	NM_001004728.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF354,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	63	59443827	59443827	C	A	1	0	0	0	0	1	0	0	0	11211	855	30	2		2	OR5A1	11	59443827	Missense_Mutation	SNP	C	C3N-00704_TP	1176452	59443827	75642795	416	20913	441	2									
OR5A1	0	.	GRCh38	chr11	59443828	59443828	+	Silent	SNP	C	C	A																															ttcctccaactccttatctcCtatggttacatagtgtctgc																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.660C>A	p.=	p.S220S	ENST00000302030	1/1	162	147	15	191	191	0	strelka-varscan-mutect	OR5A1,synonymous_variant,p.=,ENST00000302030,NM_001004728.1;	A	ENST00000302030	Transcript	synonymous_variant	685/1051	660/948	220/315	S	tcC/tcA		1		1	OR5A1	HGNC	HGNC:8319	protein_coding	YES	CCDS31561.1	ENSP00000303096	Q8NGJ0		UPI0000041C97	NM_001004728.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF354,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												A	2	1	63	59443828	59443828	C	A	1	0	0	0	0	0	0	0	1	11211	668	24	2		2	OR5A1	11	59443828	Silent	SNP	C	C3N-00704_TP	1	59443828	75642794	417	20914	441	2									
OR10V1	0	.	GRCh38	chr11	59712919	59712919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataggatcatcctacctaGaattttctcaatgctttcct	10	16	4	11	0	3	1	3	0	1	1	6	2	5	2	3	1	2	1	3	1	5	6	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.927C>A	p.Phe309Leu	p.F309L	ENST00000307552	1/1	77	62	15	90	90	0	strelka-varscan-mutect	OR10V1,missense_variant,p.Phe309Leu,ENST00000307552,NM_001005324.1;	T	ENST00000307552	Transcript	missense_variant	946/1042	927/930	309/309	F/L	ttC/ttA		1		-1	OR10V1	HGNC	HGNC:15136	protein_coding	YES	CCDS31565.1	ENSP00000302199	Q8NGI7		UPI0000061EC8	NM_001005324.1	deleterious(0.02)		1/1																			MODERATE	1	SNV				1										PASS		.	.												T	3	4	63	59712919	59712919	G	T	1	0	0	0	0	1	0	0	0	10997	933	33	2		2	OR10V1	11	59712919	Missense_Mutation	SNP	G	C3N-00704_TP	269091	59712919	75373703	418	20915											
MS4A14	0	.	GRCh38	chr11	60415605	60415605	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttcaagttaacactcTctaggagtcctttagtctcc	8	16	5	12	0	4	0	1	0	3	0	7	1	5	1	2	1	1	1	2	1	4	6	rs746461684		C3N-00704_TP	C3N-00704_NB	T	T																c.736T>A	p.Ser246Thr	p.S246T	ENST00000531783	6/6	119	98	21	194	194	0	strelka-varscan-mutect	MS4A14,missense_variant,p.Ser229Thr,ENST00000395001,NM_001261827.1;MS4A14,missense_variant,p.Ser213Thr,ENST00000300187,NM_032597.4;MS4A14,missense_variant,p.Ser246Thr,ENST00000531783,NM_001261828.1;MS4A14,missense_variant,p.Ser196Thr,ENST00000395005,NM_001079692.2;MS4A14,missense_variant,p.Ser101Thr,ENST00000531787,;MS4A14,3_prime_UTR_variant,,ENST00000530662,;MS4A14,3_prime_UTR_variant,,ENST00000527841,;MS4A14,3_prime_UTR_variant,,ENST00000525397,;	A	ENST00000531783	Transcript	missense_variant	827/2910	736/2139	246/712	S/T	Tct/Act	rs746461684	1		1	MS4A14	HGNC	HGNC:30706	protein_coding	YES	CCDS58136.1	ENSP00000433761	Q96JA4		UPI0001F77AC2	NM_001261828.1	tolerated(0.47)		6/6																			MODERATE	1	SNV	5			1										PASS		rs746461684	.												A	3	1	63	60415605	60415605	T	A	1	0	0	0	0	1	0	0	0	9835	1551	54	4		4	MS4A14	11	60415605	Missense_Mutation	SNP	T	C3N-00704_TP	702686	60415605	74671017	419	20916											
PLCB3	0	.	GRCh38	chr11	64251696	64251696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgctgcagttggagccgcCcaccgtggtggagaccctgc	5	6	15	15	4	0	1	0	0	0	1	0	3	0	2	4	3	3	3	4	3	0	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.47C>A	p.Pro16His	p.P16H	ENST00000540288	1/32	118	102	16	112	112	0	strelka-varscan-mutect	PLCB3,missense_variant,p.Pro16His,ENST00000540288,NM_001316314.1,NM_000932.2;PLCB3,missense_variant,p.Pro16His,ENST00000279230,;PLCB3,missense_variant,p.Pro16His,ENST00000325234,NM_001184883.1;PPP1R14B,upstream_gene_variant,,ENST00000309318,NM_138689.2;RP11-783K16.13,upstream_gene_variant,,ENST00000545800,;RP11-783K16.5,downstream_gene_variant,,ENST00000538355,;RP11-783K16.5,downstream_gene_variant,,ENST00000544553,;	A	ENST00000540288	Transcript	missense_variant	150/4469	47/3705	16/1234	P/H	cCc/cAc		1		1	PLCB3	HGNC	HGNC:9056	protein_coding	YES	CCDS8064.1	ENSP00000443631	Q01970		UPI0000131AFF	NM_001316314.1,NM_000932.2	deleterious(0.03)		1/32		hmmpanther:PTHR10336:SF11,hmmpanther:PTHR10336,PIRSF_domain:PIRSF000956,Gene3D:2.30.29.30																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	64251696	64251696	C	A	1	0	0	0	0	1	0	0	0	12123	623	22	2		2	PLCB3	11	64251696	Missense_Mutation	SNP	C	C3N-00704_TP	3836091	64251696	70834926	420	20917											
ATG2A	0	.	GRCh38	chr11	64900936	64900937	+	Frame_Shift_Del	DEL	GG	GG	-																															cccatagaggtgccagacgaGggagacctcacgtagcacca																								novel		C3N-00704_TP	C3N-00704_NB	GG	GG																c.4275_4276delCC	p.Leu1426ArgfsTer121	p.L1426Rfs*121	ENST00000377264	30/41	135	114	21	199	199	0	sindel-varindel-pindel	ATG2A,frameshift_variant,p.Leu1426ArgfsTer121,ENST00000377264,NM_015104.2;ATG2A,frameshift_variant,p.Leu1230ArgfsTer121,ENST00000418259,;ATG2A,intron_variant,,ENST00000421419,;MIR6750,upstream_gene_variant,,ENST00000617817,;MIR6749,downstream_gene_variant,,ENST00000617008,;ATG2A,upstream_gene_variant,,ENST00000472525,;	-	ENST00000377264	Transcript	frameshift_variant	4388-4389/6357	4275-4276/5817	1425-1426/1938	SL/SX	tcCCtc/tctc		1		-1	ATG2A	HGNC	HGNC:29028	protein_coding	YES	CCDS31602.1	ENSP00000366475	Q2TAZ0		UPI00001C1F21	NM_015104.2			30/41		hmmpanther:PTHR13190,hmmpanther:PTHR13190:SF21																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	63	64900936	64900936	GG	-	1	0	1	0	1	0	0	0	0	1245	1000	35	0		0	ATG2A	11	64900936	Frame_Shift_Del	DEL	GG	C3N-00704_TP	649240	64900936	70185686	421	20918											
CARNS1	0	.	GRCh38	chr11	67418816	67418816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccagcacccgggcagcCgggtgaggcagccctgctag	6	4	17	14	2	0	1	0	1	0	0	0	1	0	1	4	4	5	4	4	4	1	1	rs61744660		C3N-00704_TP	C3N-00704_NB	C	C																c.425C>A	p.Pro142Gln	p.P142Q	ENST00000445895	4/9	106	89	17	129	129	0	strelka-varscan-mutect	CARNS1,missense_variant,p.Pro142Gln,ENST00000445895,NM_001166222.1;CARNS1,missense_variant,p.Pro19Gln,ENST00000307823,NM_020811.1;CARNS1,missense_variant,p.Pro142Gln,ENST00000531040,;PPP1CA,intron_variant,,ENST00000542876,;PPP1CA,intron_variant,,ENST00000546202,;CARNS1,downstream_gene_variant,,ENST00000529925,;CARNS1,downstream_gene_variant,,ENST00000525907,;CARNS1,non_coding_transcript_exon_variant,,ENST00000531388,;CARNS1,non_coding_transcript_exon_variant,,ENST00000531958,;	A	ENST00000445895	Transcript	missense_variant	539/3971	425/2853	142/950	P/Q	cCg/cAg	rs61744660	1		1	CARNS1	HGNC	HGNC:29268	protein_coding	YES	CCDS53667.1	ENSP00000389009	A5YM72		UPI0001B99E02	NM_001166222.1	deleterious(0.01)		4/9																			MODERATE	1	SNV	5			1										PASS		rs61744660	.												A	3	1	63	67418816	67418816	C	A	1	0	0	0	0	1	0	0	0	2355	652	23	1		1	CARNS1	11	67418816	Missense_Mutation	SNP	C	C3N-00704_TP	2517880	67418816	67667806	422	20919											
ANO1	0	.	GRCh38	chr11	70132026	70132026	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccacggcccgcgccagccAcctcttcgacaaccccgcca	7	3	8	23	6	1	0	0	0	1	0	2	1	1	0	8	1	2	0	8	1	1	1	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.1205A>G	p.His402Arg	p.H402R	ENST00000355303	11/26	198	168	30	246	246	0	strelka-varscan-mutect	ANO1,missense_variant,p.His402Arg,ENST00000355303,NM_018043.5;ANO1,missense_variant,p.His137Arg,ENST00000531349,;ANO1,missense_variant,p.His286Arg,ENST00000530676,;ANO1,missense_variant,p.His374Arg,ENST00000316296,;ANO1,missense_variant,p.His267Arg,ENST00000530480,;RP11-805J14.3,intron_variant,,ENST00000530525,;	G	ENST00000355303	Transcript	missense_variant	1510/4790	1205/2961	402/986	H/R	cAc/cGc		1		1	ANO1	HGNC	HGNC:21625	protein_coding	YES	CCDS44663.1	ENSP00000347454	Q5XXA6		UPI000013CE03	NM_018043.5	deleterious(0.01)		11/26		Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	63	70132026	70132026	A	G	1	0	0	0	0	1	0	0	0	802	159	6	5		5	ANO1	11	70132026	Missense_Mutation	SNP	A	C3N-00704_TP	2713210	70132026	64954596	423	20920											
KRTAP5-8	0	.	GRCh38	chr11	71538128	71538128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctggctgtgggggatgtGgctctagctgctgtgtgccc	2	12	17	10	0	2	0	0	0	2	0	2	1	2	1	1	4	3	5	1	4	1	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.73G>T	p.Gly25Cys	p.G25C	ENST00000398534	1/1	354	270	84	473	473	0	strelka-varscan-mutect	KRTAP5-8,missense_variant,p.Gly25Cys,ENST00000398534,NM_021046.2;	T	ENST00000398534	Transcript	missense_variant	104/1183	73/564	25/187	G/C	Ggc/Tgc		1		1	KRTAP5-8	HGNC	HGNC:23603	protein_coding	YES	CCDS41683.1	ENSP00000420723	O75690		UPI000013ECDA	NM_021046.2	deleterious_low_confidence(0.01)		1/1		hmmpanther:PTHR23262,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	63	71538128	71538128	G	T	1	0	0	0	0	1	0	0	0	8462	1348	47	2		2	KRTAP5-8	11	71538128	Missense_Mutation	SNP	G	C3N-00704_TP	1406102	71538128	63548494	424	20921											
MYO7A	0	.	GRCh38	chr11	77211206	77211206	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacgcgggaggaggtgctgCagctgggggcgctgatctac	6	6	19	10	3	1	1	0	1	1	0	1	3	1	3	0	5	4	5	0	5	1	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.6106C>G	p.Gln2036Glu	p.Q2036E	ENST00000409709	45/49	132	103	29	164	164	0	strelka-varscan-mutect	MYO7A,missense_variant,p.Gln2036Glu,ENST00000409709,NM_000260.3;MYO7A,missense_variant,p.Gln1998Glu,ENST00000458637,NM_001127180.1;MYO7A,missense_variant,p.Gln1987Glu,ENST00000409619,;MYO7A,missense_variant,p.Gln1178Glu,ENST00000458169,;MYO7A,non_coding_transcript_exon_variant,,ENST00000605744,;MYO7A,intron_variant,,ENST00000526863,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;MYO7A,upstream_gene_variant,,ENST00000481532,;	G	ENST00000409709	Transcript	missense_variant	6378/7462	6106/6648	2036/2215	Q/E	Cag/Gag		1		1	MYO7A	HGNC	HGNC:7606	protein_coding	YES	CCDS53683.1	ENSP00000386331	Q13402		UPI00001FAFE6	NM_000260.3	tolerated(0.38)		45/49		PROSITE_profiles:PS50057,Gene3D:1.20.80.10,Pfam_domain:PF00373,SMART_domains:SM00295,Superfamily_domains:SSF47031																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	63	77211206	77211206	C	G	1	0	0	0	0	1	0	0	0	10083	711	25	4		4	MYO7A	11	77211206	Missense_Mutation	SNP	C	C3N-00704_TP	5673078	77211206	57875416	425	20922											
RSF1	0	.	GRCh38	chr11	77675086	77675086	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcttcatcatcatcggaaTattttttctttggggtcttt	6	20	6	9	1	6	0	3	0	3	0	7	1	6	1	1	3	0	0	1	3	2	7	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.3512A>T	p.Tyr1171Phe	p.Y1171F	ENST00000308488	14/16	127	101	26	143	143	0	strelka-varscan-mutect	RSF1,missense_variant,p.Tyr1171Phe,ENST00000308488,NM_016578.3;RSF1,missense_variant,p.Tyr919Phe,ENST00000480887,;RSF1,downstream_gene_variant,,ENST00000531026,;RSF1,non_coding_transcript_exon_variant,,ENST00000529470,;	A	ENST00000308488	Transcript	missense_variant	3815/11550	3512/4326	1171/1441	Y/F	tAt/tTt		1		-1	RSF1	HGNC	HGNC:18118	protein_coding	YES	CCDS8253.1	ENSP00000311513	Q96T23		UPI00001FB001	NM_016578.3	tolerated(0.09)		14/16		hmmpanther:PTHR10615:SF113,hmmpanther:PTHR10615																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	77675086	77675086	T	A	1	0	0	0	0	1	0	0	0	13955	1406	49	4		4	RSF1	11	77675086	Missense_Mutation	SNP	T	C3N-00704_TP	463880	77675086	57411536	426	20923											
DLG2	0	.	GRCh38	chr11	83541739	83541739	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctccagcatgactctcCtggcttgccaccactcatca	7	10	5	19	0	3	1	2	1	1	0	6	1	5	1	5	1	2	2	5	1	0	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2060G>T	p.Arg687Met	p.R687M	ENST00000376104	20/28	162	140	22	153	152	1	strelka-varscan-mutect	DLG2,missense_variant,p.Arg582Met,ENST00000398309,NM_001364.3;DLG2,missense_variant,p.Arg621Met,ENST00000280241,NM_001206769.1;DLG2,missense_variant,p.Arg64Met,ENST00000426717,NM_001142702.1;DLG2,missense_variant,p.Arg687Met,ENST00000376104,NM_001142699.1;DLG2,missense_variant,p.Arg479Met,ENST00000418306,NM_001142700.1;DLG2,missense_variant,p.Arg549Met,ENST00000531015,;DLG2,missense_variant,p.Arg582Met,ENST00000532653,NM_001300983.1;DLG2,missense_variant,p.Arg582Met,ENST00000524982,;DLG2,missense_variant,p.Arg521Met,ENST00000330014,;DLG2,missense_variant,p.Arg64Met,ENST00000404783,;DLG2,missense_variant,p.Arg64Met,ENST00000420775,;DLG2,missense_variant,p.Arg64Met,ENST00000398304,;DLG2,missense_variant,p.Arg91Met,ENST00000530800,;DLG2,missense_variant,p.Arg64Met,ENST00000529399,;DLG2,missense_variant,p.Arg64Met,ENST00000524601,;DLG2,missense_variant,p.Arg93Met,ENST00000434967,;	A	ENST00000376104	Transcript	missense_variant	2372/5139	2060/2928	687/975	R/M	aGg/aTg		1		-1	DLG2	HGNC	HGNC:2901	protein_coding	YES	CCDS44690.1	ENSP00000365272	Q15700		UPI0000E59399	NM_001142699.1	deleterious(0)		20/28		PROSITE_profiles:PS50002,hmmpanther:PTHR23119:SF6,hmmpanther:PTHR23119,PIRSF_domain:PIRSF001741,Pfam_domain:PF07653,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	83541739	83541739	C	A	1	0	0	0	0	1	0	0	0	4362	681	24	2		2	DLG2	11	83541739	Missense_Mutation	SNP	C	C3N-00704_TP	5866653	83541739	51544883	427	20924											
CEP295	0	.	GRCh38	chr11	93698772	93698772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacatcttctgaacaaactgGttcatcttcattcatacccc	11	14	3	13	0	6	1	3	1	3	0	6	1	6	1	2	1	4	1	2	1	4	6	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.3860G>T	p.Gly1287Val	p.G1287V	ENST00000325212	15/30	141	120	21	224	224	0	strelka-varscan-mutect	CEP295,missense_variant,p.Gly1287Val,ENST00000325212,NM_033395.1;CEP295,intron_variant,,ENST00000531700,;CEP295,upstream_gene_variant,,ENST00000530425,;CEP295,downstream_gene_variant,,ENST00000531877,;CEP295,downstream_gene_variant,,ENST00000531622,;	T	ENST00000325212	Transcript	missense_variant	4022/8057	3860/7806	1287/2601	G/V	gGt/gTt		1		1	CEP295	HGNC	HGNC:29366	protein_coding	YES	CCDS44708.1	ENSP00000316681	Q9C0D2		UPI0000251F0E	NM_033395.1	tolerated(0.1)		15/30		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF25																	MODERATE	1	SNV	2			1										PASS		rs1485420875	.												T	3	4	63	93698772	93698772	G	T	1	0	0	0	0	1	0	0	0	2970	1261	44	2		2	CEP295	11	93698772	Missense_Mutation	SNP	G	C3N-00704_TP	10157033	93698772	41387850	428	20925											
FDX1	0	.	GRCh38	chr11	110456951	110456951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctggcttgttcaacctGtcacctcatctttgaagatc	9	13	6	13	0	4	2	3	1	1	1	5	2	4	2	3	1	2	2	3	1	3	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.344G>T	p.Cys115Phe	p.C115F	ENST00000260270	3/4	138	99	39	163	163	0	strelka-varscan-mutect	FDX1,missense_variant,p.Cys115Phe,ENST00000260270,NM_004109.4;	T	ENST00000260270	Transcript	missense_variant	582/3206	344/555	115/184	C/F	tGt/tTt		1		1	FDX1	HGNC	HGNC:3638	protein_coding	YES	CCDS8344.1	ENSP00000260270	P10109		UPI0000125630	NM_004109.4	deleterious(0)		3/4		PROSITE_profiles:PS51085,hmmpanther:PTHR23426,hmmpanther:PTHR23426:SF26,PROSITE_patterns:PS00814,Gene3D:3.10.20.30,Pfam_domain:PF00111,Superfamily_domains:SSF54292,Prints_domain:PR00355																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	110456951	110456951	G	T	1	0	0	0	0	1	0	0	0	5667	1377	48	2		2	FDX1	11	110456951	Missense_Mutation	SNP	G	C3N-00704_TP	16758179	110456951	24629671	429	20926											
NCAM1	0	.	GRCh38	chr11	113235102	113235102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgccgtaaggctggcggCgctcaatggcaaagggctgg	8	6	17	10	4	1	0	1	0	0	0	1	0	1	0	1	6	1	6	1	6	4	2			C3N-00704_TP	C3N-00704_NB	C	C																c.1841C>A	p.Ala614Glu	p.A614E	ENST00000619839	15/21	198	165	33	200	200	0	strelka-varscan-mutect	NCAM1,missense_variant,p.Ala614Glu,ENST00000615285,;NCAM1,missense_variant,p.Ala588Glu,ENST00000615112,;NCAM1,missense_variant,p.Ala578Glu,ENST00000618266,;NCAM1,missense_variant,p.Ala588Glu,ENST00000316851,NM_181351.4;NCAM1,missense_variant,p.Ala578Glu,ENST00000621518,;NCAM1,missense_variant,p.Ala578Glu,ENST00000621128,NM_001242608.1;NCAM1,missense_variant,p.Ala614Glu,ENST00000619839,NM_001242607.1;NCAM1,missense_variant,p.Ala578Glu,ENST00000531044,NM_000615.6;NCAM1,missense_variant,p.Ala578Glu,ENST00000621850,NM_001076682.3;NCAM1,missense_variant,p.Ala578Glu,ENST00000401611,;NCAM1,missense_variant,p.Ala88Glu,ENST00000533073,;NCAM1,missense_variant,p.Ala123Glu,ENST00000526322,;NCAM1,missense_variant,p.Ala81Glu,ENST00000528590,;NCAM1,missense_variant,p.Ala144Glu,ENST00000530543,;NCAM1,intron_variant,,ENST00000620046,;NCAM1,downstream_gene_variant,,ENST00000613217,;NCAM1,non_coding_transcript_exon_variant,,ENST00000611284,;NCAM1,missense_variant,p.Ala88Glu,ENST00000531817,;NCAM1,non_coding_transcript_exon_variant,,ENST00000525355,;NCAM1,downstream_gene_variant,,ENST00000534046,;	A	ENST00000619839	Transcript	missense_variant	2179/2993	1841/2655	614/884	A/E	gCg/gAg	COSM1127907,COSM1127908,COSM1127910,COSM4017881	1		1	NCAM1	HGNC	HGNC:7656	protein_coding	YES	CCDS73384.1	ENSP00000480132		A0A087WWD4	UPI00021269F1	NM_001242607.1	deleterious(0)		15/21		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF34,SMART_domains:SM00060,Superfamily_domains:SSF49265											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		.	.												A	3	1	63	113235102	113235102	C	A	1	0	0	0	0	1	0	0	0	10218	768	27	1		1	NCAM1	11	113235102	Missense_Mutation	SNP	C	C3N-00704_TP	2778151	113235102	21851520	430	20927											
HTR3A	0	.	GRCh38	chr11	113986534	113986534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtggtcatccgccggcGgcccctcttctatgtggtca	4	10	12	15	3	4	0	2	0	2	0	5	0	5	0	5	5	0	0	5	5	1	2	rs373069618		C3N-00704_TP	C3N-00704_NB	G	G																c.740G>A	p.Arg247Gln	p.R247Q	ENST00000355556	7/8	312	266	46	366	366	0	strelka-varscan-mutect	HTR3A,missense_variant,p.Arg241Gln,ENST00000504030,;HTR3A,missense_variant,p.Arg247Gln,ENST00000355556,NM_213621.3;HTR3A,missense_variant,p.Arg247Gln,ENST00000375498,NM_000869.5;HTR3A,missense_variant,p.Arg241Gln,ENST00000506841,;HTR3A,missense_variant,p.Arg226Gln,ENST00000299961,NM_001161772.2;HTR3A,synonymous_variant,p.=,ENST00000510849,;HTR3A,non_coding_transcript_exon_variant,,ENST00000502622,;	A	ENST00000355556	Transcript	missense_variant	973/2331	740/1551	247/516	R/Q	cGg/cAg	rs373069618,COSM3443606	1		1	HTR3A	HGNC	HGNC:5297	protein_coding	YES	CCDS8366.2	ENSP00000347754	P46098		UPI000013F7F1	NM_213621.3	deleterious(0)		7/8		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF52,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR00252											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs373069618	.												A	3	1	63	113986534	113986534	G	A	1	0	0	0	0	1	0	0	0	7340	1116	39	1		1	HTR3A	11	113986534	Missense_Mutation	SNP	G	C3N-00704_TP	751432	113986534	21100088	431	20928											
ARHGEF12	0	.	GRCh38	chr11	120448267	120448267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgttattctcatgtatatGaagcatttgggagtaaaagt	13	16	9	3	0	1	1	1	1	1	0	2	2	1	2	0	1	1	4	0	1	7	7	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1656G>A	p.Met552Ile	p.M552I	ENST00000397843	20/41	189	155	34	189	189	0	strelka-varscan-mutect	ARHGEF12,missense_variant,p.Met552Ile,ENST00000397843,NM_015313.2;ARHGEF12,missense_variant,p.Met449Ile,ENST00000532993,NM_001301084.1;ARHGEF12,missense_variant,p.Met533Ile,ENST00000356641,NM_001198665.1;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000529970,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000528225,;ARHGEF12,upstream_gene_variant,,ENST00000525222,;ARHGEF12,upstream_gene_variant,,ENST00000532823,;ARHGEF12,downstream_gene_variant,,ENST00000525960,;	A	ENST00000397843	Transcript	missense_variant	1822/9660	1656/4635	552/1544	M/I	atG/atA		1		1	ARHGEF12	HGNC	HGNC:14193	protein_coding	YES	CCDS41727.1	ENSP00000380942	Q9NZN5		UPI00000708ED	NM_015313.2	deleterious(0)		20/41		hmmpanther:PTHR12673:SF126,hmmpanther:PTHR12673,Pfam_domain:PF09128,Superfamily_domains:SSF48097																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	120448267	120448267	G	A	1	0	0	0	0	1	0	0	0	1027	1290	45	3		3	ARHGEF12	11	120448267	Missense_Mutation	SNP	G	C3N-00704_TP	6461733	120448267	14638355	432	20929											
SORL1	0	.	GRCh38	chr11	121452521	121452521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgcggctgtgggcgcgcGgggatgccaggggggcgagc	4	4	23	10	5	0	0	0	0	0	0	0	2	0	1	1	7	4	2	1	7	0	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.190G>T	p.Gly64Trp	p.G64W	ENST00000260197	1/48	89	73	16	84	84	0	strelka-varscan-mutect	SORL1,missense_variant,p.Gly64Trp,ENST00000260197,NM_003105.5;RP11-730K11.1,intron_variant,,ENST00000501964,;RP11-730K11.1,intron_variant,,ENST00000529160,;SORL1,non_coding_transcript_exon_variant,,ENST00000532451,;	T	ENST00000260197	Transcript	missense_variant	319/10904	190/6645	64/2214	G/W	Ggg/Tgg		1		1	SORL1	HGNC	HGNC:11185	protein_coding	YES	CCDS8436.1	ENSP00000260197	Q92673		UPI000013D0B1	NM_003105.5	tolerated_low_confidence(0.07)		1/48		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	121452521	121452521	G	T	1	0	0	0	0	1	0	0	0	15256	1116	39	1		1	SORL1	11	121452521	Missense_Mutation	SNP	G	C3N-00704_TP	1004254	121452521	13634101	433	20930											
PDE3A	0	.	GRCh38	chr12	20653983	20653983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccttggattacccataagcCccttcatggatcgttctgct	7	13	8	13	1	2	0	1	0	1	0	3	2	2	2	4	2	3	2	4	2	2	5	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2962C>T	p.Pro988Ser	p.P988S	ENST00000359062	15/16	207	155	52	292	292	0	strelka-varscan-mutect	PDE3A,missense_variant,p.Pro988Ser,ENST00000359062,NM_000921.4,NM_001244683.1;PDE3A,non_coding_transcript_exon_variant,,ENST00000544307,;	T	ENST00000359062	Transcript	missense_variant	3002/7576	2962/3426	988/1141	P/S	Ccc/Tcc		1		1	PDE3A	HGNC	HGNC:8778	protein_coding	YES	CCDS31754.1	ENSP00000351957	Q14432		UPI000014175F	NM_000921.4,NM_001244683.1	deleterious(0)		15/16		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF104,Pfam_domain:PF00233,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	20653983	20653983	C	T	1	0	0	0	0	1	0	0	0	11725	623	22	3		3	PDE3A	12	20653983	Missense_Mutation	SNP	C	C3N-00704_TP		20653983	112621326	434	20931											
SLCO1A2	0	.	GRCh38	chr12	21274468	21274468	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaacaaattattatctttaCctgaaggtggtggaatcata	15	14	7	5	0	2	1	1	1	1	0	2	2	2	2	1	3	2	0	1	3	9	6	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1793+1G>T		p.X598_splice	ENST00000307378		110	90	20	164	164	0	strelka-varscan-mutect	SLCO1A2,splice_donor_variant,,ENST00000307378,NM_021094.3,NM_134431.3;SLCO1A2,splice_donor_variant,,ENST00000458504,;SLCO1A2,splice_donor_variant,,ENST00000544290,;SLCO1A2,splice_donor_variant,,ENST00000544020,;SLCO1A2,non_coding_transcript_exon_variant,,ENST00000480394,;SLCO1A2,downstream_gene_variant,,ENST00000463718,;	A	ENST00000307378	Transcript	splice_donor_variant	-/7682	1793/2013	598/670				1		-1	SLCO1A2	HGNC	HGNC:10956	protein_coding	YES	CCDS8686.1	ENSP00000305974	P46721	A0A024RAT5	UPI0000037575	NM_021094.3,NM_134431.3				15/15																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	63	21274468	21274468	C	A	1	0	0	0	0	0	0	1	0	15008	521	18	2		2	SLCO1A2	12	21274468	Splice_Site	SNP	C	C3N-00704_TP	620485	21274468	112000841	435	20932											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3N-00704_TP	C3N-00704_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	272	192	80	422	422	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												A	3	1	63	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	C3N-00704_TP	3970883	25245351	108029958	436	20933											
ADAMTS20	0	.	GRCh38	chr12	43428641	43428641	+	Missense_Mutation	SNP	C	C	A																															ataagaatacttacgggtgaCcaatcccctgcttgccactc																										C3N-00704_TP	C3N-00704_NB	C	C																c.3648G>T	p.Trp1216Cys	p.W1216C	ENST00000389420	25/39	96	74	22	135	134	1	strelka-varscan-mutect	ADAMTS20,missense_variant,p.Trp1216Cys,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Trp1216Cys,ENST00000395541,;ADAMTS20,missense_variant,p.Trp1216Cys,ENST00000553158,;ADAMTS20,missense_variant,p.Trp346Cys,ENST00000549670,;	A	ENST00000389420	Transcript	missense_variant	3648/6076	3648/5733	1216/1910	W/C	tgG/tgT	COSM3460726,COSM3460727,COSM3460728	1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3	deleterious(0)		25/39		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	63	43428641	43428641	C	A	1	0	0	0	0	1	0	0	0	310	508	18	2		2	ADAMTS20	12	43428641	Missense_Mutation	SNP	C	C3N-00704_TP	18183290	43428641	89846668	437	20934	442	2									
ADAMTS20	0	.	GRCh38	chr12	43428642	43428642	+	Missense_Mutation	SNP	C	C	G																															taagaatacttacgggtgacCaatcccctgcttgccactct																										C3N-00704_TP	C3N-00704_NB	C	C																c.3647G>C	p.Trp1216Ser	p.W1216S	ENST00000389420	25/39	97	75	22	133	133	0	strelka-varscan-mutect	ADAMTS20,missense_variant,p.Trp1216Ser,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Trp1216Ser,ENST00000395541,;ADAMTS20,missense_variant,p.Trp1216Ser,ENST00000553158,;ADAMTS20,missense_variant,p.Trp346Ser,ENST00000549670,;	G	ENST00000389420	Transcript	missense_variant	3647/6076	3647/5733	1216/1910	W/S	tGg/tCg	COSM1646504,COSM4862652,COSM694015	1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3	deleterious(0.01)		25/39		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												G	3	3	63	43428642	43428642	C	G	1	0	0	0	0	1	0	0	0	310	595	21	4		4	ADAMTS20	12	43428642	Missense_Mutation	SNP	C	C3N-00704_TP	1	43428642	89846667	438	20935	442	2									
ENDOU	0	.	GRCh38	chr12	47711663	47711663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctggcgatgaagcacaggGagtagagtgcaaactcaaac	14	5	13	9	1	1	2	1	1	0	1	1	4	1	3	1	2	4	3	1	2	4	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1085C>A	p.Ser362Tyr	p.S362Y	ENST00000422538	9/10	143	93	50	224	224	0	strelka-varscan-mutect	ENDOU,missense_variant,p.Ser362Tyr,ENST00000422538,NM_001172439.1;ENDOU,missense_variant,p.Ser321Tyr,ENST00000229003,NM_006025.3;ENDOU,missense_variant,p.Ser299Tyr,ENST00000545824,NM_001172440.1;RP1-197B17.3,intron_variant,,ENST00000547799,;ENDOU,downstream_gene_variant,,ENST00000551186,;	T	ENST00000422538	Transcript	missense_variant	1208/2413	1085/1233	362/410	S/Y	tCc/tAc		1		-1	ENDOU	HGNC	HGNC:14369	protein_coding	YES	CCDS53785.1	ENSP00000397679	P21128		UPI00001FC0AE	NM_001172439.1	deleterious(0)		9/10		hmmpanther:PTHR12439,hmmpanther:PTHR12439:SF9,Pfam_domain:PF09412,Superfamily_domains:SSF142877																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	47711663	47711663	G	T	1	0	0	0	0	1	0	0	0	4958	1174	41	2		2	ENDOU	12	47711663	Missense_Mutation	SNP	G	C3N-00704_TP	4283021	47711663	85563646	439	20936											
OR10P1	0	.	GRCh38	chr12	55637526	55637526	+	Missense_Mutation	SNP	T	T	G																															agtcttcattatgatcccctTctctctgattgtcacctctt																								novel		C3N-00704_TP	C3N-00704_NB	T	T																c.635T>G	p.Phe212Cys	p.F212C	ENST00000309675	1/1	338	288	50	529	527	2	strelka-varscan-mutect	OR10P1,missense_variant,p.Phe212Cys,ENST00000309675,NM_206899.1;RP11-644F5.16,downstream_gene_variant,,ENST00000556606,;	G	ENST00000309675	Transcript	missense_variant	667/995	635/942	212/313	F/C	tTc/tGc		1		1	OR10P1	HGNC	HGNC:15378	protein_coding	YES	CCDS31828.1	ENSP00000308082	Q8NGE3		UPI0000061E9C	NM_206899.1	tolerated(0.05)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF194,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE		SNV				1										PASS		.	.												G	3	3	63	55637526	55637526	T	G	1	0	0	0	0	1	0	0	0	10992	1783	62	5		5	OR10P1	12	55637526	Missense_Mutation	SNP	T	C3N-00704_TP	7925863	55637526	77637783	440	20937	443	2									
OR10P1	0	.	GRCh38	chr12	55637527	55637527	+	Missense_Mutation	SNP	C	C	A																															gtcttcattatgatccccttCtctctgattgtcacctctta																								rs780175736		C3N-00704_TP	C3N-00704_NB	C	C																c.636C>A	p.Phe212Leu	p.F212L	ENST00000309675	1/1	336	287	49	528	528	0	strelka-varscan-mutect	OR10P1,missense_variant,p.Phe212Leu,ENST00000309675,NM_206899.1;RP11-644F5.16,downstream_gene_variant,,ENST00000556606,;	A	ENST00000309675	Transcript	missense_variant	668/995	636/942	212/313	F/L	ttC/ttA	rs780175736	1		1	OR10P1	HGNC	HGNC:15378	protein_coding	YES	CCDS31828.1	ENSP00000308082	Q8NGE3		UPI0000061E9C	NM_206899.1	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF194,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE		SNV				1										PASS		rs780175736	.												A	3	1	63	55637527	55637527	C	A	1	0	0	0	0	1	0	0	0	10992	912	32	2		2	OR10P1	12	55637527	Missense_Mutation	SNP	C	C3N-00704_TP	1	55637527	77637782	441	20938	443	2									
PPFIA2	0	.	GRCh38	chr12	81341125	81341125	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagagtgtgagtcattctGagggctctaggggtaggagg	8	9	20	4	0	3	3	1	2	2	1	3	5	3	4	0	6	0	2	0	6	2	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2346C>G	p.=	p.L782L	ENST00000549396	20/33	175	152	23	187	187	0	strelka-varscan-mutect	PPFIA2,synonymous_variant,p.=,ENST00000333447,NM_001220478.2;PPFIA2,synonymous_variant,p.=,ENST00000550584,NM_001220473.2;PPFIA2,synonymous_variant,p.=,ENST00000549396,NM_003625.4;PPFIA2,synonymous_variant,p.=,ENST00000549325,NM_001220474.2;PPFIA2,synonymous_variant,p.=,ENST00000548586,NM_001220476.2;PPFIA2,synonymous_variant,p.=,ENST00000552948,NM_001220475.2;PPFIA2,synonymous_variant,p.=,ENST00000407050,NM_001220477.2;PPFIA2,synonymous_variant,p.=,ENST00000550359,NM_001282536.1;PPFIA2,synonymous_variant,p.=,ENST00000443686,;PPFIA2,synonymous_variant,p.=,ENST00000541570,NM_001220479.2;PPFIA2,5_prime_UTR_variant,,ENST00000541017,NM_001220480.2;PPFIA2,upstream_gene_variant,,ENST00000551147,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000549917,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,3_prime_UTR_variant,,ENST00000551461,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000549344,;	C	ENST00000549396	Transcript	synonymous_variant	2507/5363	2346/3774	782/1257	L	ctC/ctG		1		-1	PPFIA2	HGNC	HGNC:9246	protein_coding	YES	CCDS55857.1	ENSP00000450337	O75334		UPI0000168655	NM_003625.4			20/33		hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	63	81341125	81341125	G	C	1	0	0	0	0	0	0	0	1	12419	1277	45	4		4	PPFIA2	12	81341125	Silent	SNP	G	C3N-00704_TP	25703598	81341125	51934184	442	20939											
DEPDC4	0	.	GRCh38	chr12	100263577	100263577	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatttattgcctagaaacctGtagagactaatgttggaatc	13	13	9	6	0	0	2	0	0	0	2	1	5	0	3	2	1	2	2	2	1	6	7	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.474C>A	p.Tyr158Ter	p.Y158*	ENST00000416321	2/5	60	38	22	119	119	0	strelka-varscan-mutect	DEPDC4,stop_gained,p.Tyr158Ter,ENST00000550587,;DEPDC4,stop_gained,p.Tyr158Ter,ENST00000416321,NM_152317.2;DEPDC4,stop_gained,p.Tyr151Ter,ENST00000551642,NM_001319310.1;DEPDC4,stop_gained,p.Tyr91Ter,ENST00000549249,;SCYL2,upstream_gene_variant,,ENST00000360820,NM_001317784.1,NM_017988.4;SCYL2,upstream_gene_variant,,ENST00000635101,;SCYL2,upstream_gene_variant,,ENST00000549687,;SCYL2,upstream_gene_variant,,ENST00000548392,;DEPDC4,upstream_gene_variant,,ENST00000548313,;SCYL2,upstream_gene_variant,,ENST00000550067,;DEPDC4,stop_gained,p.Tyr158Ter,ENST00000378244,;DEPDC4,intron_variant,,ENST00000299185,;DEPDC4,intron_variant,,ENST00000549341,;	T	ENST00000416321	Transcript	stop_gained	477/1155	474/885	158/294	Y/*	taC/taA		1		-1	DEPDC4	HGNC	HGNC:22952	protein_coding	YES	CCDS9075.1	ENSP00000396234	Q8N2C3	A0A024RBI9	UPI0000071E6F	NM_152317.2			2/5		PROSITE_profiles:PS50186,hmmpanther:PTHR16206:SF10,hmmpanther:PTHR16206,Gene3D:1.10.10.10,Pfam_domain:PF00610,SMART_domains:SM00049,Superfamily_domains:SSF46785																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	63	100263577	100263577	G	T	1	0	0	0	0	0	1	0	0	4247	1372	48	2		2	DEPDC4	12	100263577	Nonsense_Mutation	SNP	G	C3N-00704_TP	18922452	100263577	33011732	443	20940											
CORO1C	0	.	GRCh38	chr12	108662158	108662158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attttctgggatctgccataCctgttggacaaggaagaaag	12	11	11	7	0	2	1	0	0	2	1	2	4	2	4	2	3	2	1	2	3	4	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.478G>A	p.Val160Ile	p.V160I	ENST00000420959	4/11	135	109	26	202	202	0	strelka-varscan-mutect	CORO1C,missense_variant,p.Val160Ile,ENST00000420959,NM_001105237.2;CORO1C,missense_variant,p.Val107Ile,ENST00000261401,NM_014325.3;CORO1C,missense_variant,p.Val107Ile,ENST00000541050,NM_001276471.1;CORO1C,missense_variant,p.Val113Ile,ENST00000549772,;CORO1C,missense_variant,p.Val2Ile,ENST00000421578,;CORO1C,missense_variant,p.Val107Ile,ENST00000546571,;CORO1C,missense_variant,p.Val2Ile,ENST00000552871,;CORO1C,missense_variant,p.Val107Ile,ENST00000551044,;CORO1C,missense_variant,p.Val107Ile,ENST00000547294,;CORO1C,missense_variant,p.Val107Ile,ENST00000550032,;CORO1C,missense_variant,p.Val107Ile,ENST00000551550,;CORO1C,intron_variant,,ENST00000549384,;CORO1C,upstream_gene_variant,,ENST00000552030,;CORO1C,missense_variant,p.Val107Ile,ENST00000550542,;CORO1C,splice_region_variant,,ENST00000547170,;CORO1C,upstream_gene_variant,,ENST00000547361,;	T	ENST00000420959	Transcript	missense_variant,splice_region_variant	527/3921	478/1584	160/527	V/I	Gta/Ata		1		-1	CORO1C	HGNC	HGNC:2254	protein_coding	YES	CCDS61236.1	ENSP00000394496	Q9ULV4		UPI00015BFD0B	NM_001105237.2	tolerated(0.5)		4/11		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	108662158	108662158	C	T	1	0	0	0	0	1	0	0	0	3549	521	18	3		3	CORO1C	12	108662158	Missense_Mutation	SNP	C	C3N-00704_TP	8398581	108662158	24613151	444	20941											
SDSL	0	.	GRCh38	chr12	113428132	113428132	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcggctccttcaagattcgGggcattgggcatttctgcca	7	11	12	11	2	2	1	1	0	1	1	4	1	3	1	2	4	2	3	2	4	1	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.150G>T	p.=	p.R50R	ENST00000403593	2/8	195	151	44	276	275	1	strelka-varscan-mutect	SDSL,synonymous_variant,p.=,ENST00000403593,NM_001304993.1;SDSL,synonymous_variant,p.=,ENST00000345635,NM_138432.3;SDSL,intron_variant,,ENST00000553248,;SDSL,upstream_gene_variant,,ENST00000546672,;SDS,upstream_gene_variant,,ENST00000547342,;SDSL,downstream_gene_variant,,ENST00000547802,;	T	ENST00000403593	Transcript	synonymous_variant	412/1449	150/990	50/329	R	cgG/cgT		1		1	SDSL	HGNC	HGNC:30404	protein_coding	YES	CCDS9170.1	ENSP00000385790	Q96GA7	A0A024RBL2	UPI0000072263	NM_001304993.1			2/8		hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF99,PROSITE_patterns:PS00165,Gene3D:3.40.50.1100,Pfam_domain:PF00291,Superfamily_domains:SSF53686																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	63	113428132	113428132	G	T	1	0	0	0	0	0	0	0	1	14252	1219	43	2		2	SDSL	12	113428132	Silent	SNP	G	C3N-00704_TP	4765974	113428132	19847177	445	20942											
TMEM132C	0	.	GRCh38	chr12	128697367	128697367	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgcagaaaacagcaaggcCgtaacagctgtggtcacagc	15	4	11	11	2	1	1	1	0	0	1	1	1	1	1	1	2	6	4	1	2	5	1	rs562181064		C3N-00704_TP	C3N-00704_NB	C	C																c.2073C>A	p.=	p.A691A	ENST00000435159	8/9	74	52	22	86	86	0	strelka-varscan-mutect	TMEM132C,synonymous_variant,p.=,ENST00000435159,NM_001136103.2;	A	ENST00000435159	Transcript	synonymous_variant	2073/4947	2073/3327	691/1108	A	gcC/gcA	rs562181064,COSM2227790,COSM2227791	1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2			8/9		Low_complexity_(Seg):seg,hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4,Pfam_domain:PF16070											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs562181064	.												A	2	1	63	128697367	128697367	C	A	1	0	0	0	0	0	0	0	1	16491	639	23	1		1	TMEM132C	12	128697367	Silent	SNP	C	C3N-00704_TP	15269235	128697367	4577942	446	20943											
TMEM132C	0	.	GRCh38	chr12	128705245	128705245	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtggcccgttgtggtGgccgaaggggaaggccaggg	6	5	20	10	2	0	0	0	0	0	0	0	2	0	1	4	8	0	1	4	8	2	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2277G>A	p.=	p.V759V	ENST00000435159	9/9	155	120	35	196	196	0	strelka-varscan-mutect	TMEM132C,synonymous_variant,p.=,ENST00000435159,NM_001136103.2;	A	ENST00000435159	Transcript	synonymous_variant	2277/4947	2277/3327	759/1108	V	gtG/gtA		1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2			9/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4,Pfam_domain:PF16070																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	63	128705245	128705245	G	A	1	0	0	0	0	0	0	0	1	16491	1335	47	3		3	TMEM132C	12	128705245	Silent	SNP	G	C3N-00704_TP	7878	128705245	4570064	447	20944											
ATP12A	0	.	GRCh38	chr13	24691229	24691229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgtggccaatgtgcccgaGggcctcctggccactgtcac	6	9	12	14	1	1	0	1	0	0	0	2	1	2	0	5	3	1	0	5	3	1	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1065G>T	p.Glu355Asp	p.E355D	ENST00000218548	8/23	72	59	13	92	92	0	strelka-varscan-mutect	ATP12A,missense_variant,p.Glu349Asp,ENST00000381946,NM_001676.5;ATP12A,missense_variant,p.Glu355Asp,ENST00000218548,NM_001185085.1;	T	ENST00000218548	Transcript	missense_variant	1398/3732	1065/3138	355/1045	E/D	gaG/gaT		1		1	ATP12A	HGNC	HGNC:13816	protein_coding	YES	CCDS53858.1	ENSP00000218548	P54707		UPI000006D1DE	NM_001185085.1	deleterious(0.03)		8/23		hmmpanther:PTHR24093:SF282,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01494,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01106,Superfamily_domains:0049473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	24691229	24691229	G	T	1	0	0	0	0	1	0	0	0	1274	991	35	2		2	ATP12A	13	24691229	Missense_Mutation	SNP	G	C3N-00704_TP		24691229	89673099	448	20945											
TRPC4	0	.	GRCh38	chr13	37637433	37637433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatctcggatgaatcaGggtggttaaatcaaaaaggc	13	10	12	6	1	3	2	2	2	1	0	4	3	3	3	0	4	1	2	0	4	5	1	rs374449501		C3N-00704_TP	C3N-00704_NB	G	G																c.2419C>A	p.Leu807Met	p.L807M	ENST00000625583	10/10	132	109	23	148	148	0	strelka-varscan-mutect	TRPC4,missense_variant,p.Leu802Met,ENST00000379705,NM_016179.2;TRPC4,missense_variant,p.Leu807Met,ENST00000625583,NM_003306.1;TRPC4,missense_variant,p.Leu629Met,ENST00000338947,NM_001135958.1;TRPC4,missense_variant,p.Leu629Met,ENST00000379679,;TRPC4,intron_variant,,ENST00000358477,NM_001135955.1;TRPC4,intron_variant,,ENST00000355779,NM_001135957.1;TRPC4,intron_variant,,ENST00000379673,NM_001135956.1;TRPC4,intron_variant,,ENST00000426868,;TRPC4,3_prime_UTR_variant,,ENST00000488717,;	T	ENST00000625583	Transcript	missense_variant	2419/3009	2419/2949	807/982	L/M	Ctg/Atg	rs374449501,COSM696628,COSM696629	1		-1	TRPC4	HGNC	HGNC:12336	protein_coding	YES	CCDS45037.1	ENSP00000486109	Q9UBN4		UPI000006E5BE	NM_003306.1	tolerated_low_confidence(0.44)		10/10		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF25,Prints_domain:PR01645											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs374449501	.												T	3	4	63	37637433	37637433	G	T	1	0	0	0	0	1	0	0	0	17085	991	35	2		2	TRPC4	13	37637433	Missense_Mutation	SNP	G	C3N-00704_TP	12946204	37637433	76726895	449	20946											
VWA8	0	.	GRCh38	chr13	41868420	41868420	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttttccatcatcttctCtacttttacaatctctttag	8	20	3	10	0	4	0	1	0	3	0	7	0	5	0	1	1	2	1	1	1	4	8	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1138G>T	p.Glu380Ter	p.E380*	ENST00000379310	10/45	208	183	25	332	332	0	strelka-varscan-mutect	VWA8,stop_gained,p.Glu380Ter,ENST00000379310,NM_015058.1;VWA8,stop_gained,p.Glu380Ter,ENST00000281496,NM_001009814.1;VWA8,upstream_gene_variant,,ENST00000379302,;	A	ENST00000379310	Transcript	stop_gained	1207/7147	1138/5718	380/1905	E/*	Gag/Tag		1		-1	VWA8	HGNC	HGNC:29071	protein_coding	YES	CCDS41881.1	ENSP00000368612	A3KMH1		UPI00001606AC	NM_015058.1			10/45		hmmpanther:PTHR21610																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	63	41868420	41868420	C	A	1	0	0	0	0	0	1	0	0	17800	922	32	2		2	VWA8	13	41868420	Nonsense_Mutation	SNP	C	C3N-00704_TP	4230987	41868420	72495908	450	20947											
VWA8	0	.	GRCh38	chr13	41907696	41907696	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctcccgtttggtcagctCctgtagagaagagaatgaaa	12	9	11	9	1	1	3	1	1	0	2	3	6	3	3	3	1	1	3	3	1	4	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.373G>T	p.Glu125Ter	p.E125*	ENST00000379310	4/45	249	201	48	230	230	0	strelka-varscan-mutect	VWA8,stop_gained,p.Glu125Ter,ENST00000379310,NM_015058.1;VWA8,stop_gained,p.Glu125Ter,ENST00000281496,NM_001009814.1;RNU6-74P,downstream_gene_variant,,ENST00000384235,;	A	ENST00000379310	Transcript	stop_gained,splice_region_variant	442/7147	373/5718	125/1905	E/*	Gag/Tag		1		-1	VWA8	HGNC	HGNC:29071	protein_coding	YES	CCDS41881.1	ENSP00000368612	A3KMH1		UPI00001606AC	NM_015058.1			4/45		Gene3D:3.40.50.300,Pfam_domain:PF07728,hmmpanther:PTHR21610,Superfamily_domains:SSF52540																	HIGH	1	SNV	2			1										PASS		rs1442109682	.												A	4	1	63	41907696	41907696	C	A	1	0	0	0	0	0	1	0	0	17800	869	30	2		2	VWA8	13	41907696	Nonsense_Mutation	SNP	C	C3N-00704_TP	39276	41907696	72456632	451	20948											
EPSTI1	0	.	GRCh38	chr13	42900319	42900319	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagttttacctcctgtgtTcagtctggtggattttggct	4	17	11	9	0	2	0	1	0	1	0	3	1	3	1	3	3	1	3	3	3	1	5	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.839A>T	p.Glu280Val	p.E280V	ENST00000313640	10/13	245	199	46	304	304	0	strelka-varscan-mutect	EPSTI1,missense_variant,p.Glu280Val,ENST00000313640,NM_001002264.2;EPSTI1,missense_variant,p.Glu269Val,ENST00000313624,NM_033255.3;EPSTI1,missense_variant,p.Glu280Val,ENST00000398762,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000535677,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000540470,;	A	ENST00000313640	Transcript	missense_variant	904/3160	839/1233	280/410	E/V	gAa/gTa		1		-1	EPSTI1	HGNC	HGNC:16465	protein_coding	YES	CCDS31964.1	ENSP00000318982	Q96J88		UPI0000074657	NM_001002264.2	deleterious(0)		10/13		hmmpanther:PTHR22529:SF1,hmmpanther:PTHR22529																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	42900319	42900319	T	A	1	0	0	0	0	1	0	0	0	5046	1783	62	4		4	EPSTI1	13	42900319	Missense_Mutation	SNP	T	C3N-00704_TP	992623	42900319	71464009	452	20949											
SUCLA2	0	.	GRCh38	chr13	47968646	47968646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttctatcatggttgcatCgtatttcagaaaaaggctgt	11	16	8	6	1	3	1	2	0	1	1	4	1	3	1	0	2	1	4	0	2	5	6	rs397515462		C3N-00704_TP	C3N-00704_NB	C	C																c.751G>T	p.Asp251Tyr	p.D251Y	ENST00000378654	6/11	204	176	28	348	347	1	strelka-varscan-mutect	SUCLA2,missense_variant,p.Asp251Tyr,ENST00000378654,NM_003850.2;SUCLA2,missense_variant,p.Asp181Tyr,ENST00000434484,;SUCLA2,missense_variant,p.Asp103Tyr,ENST00000433022,;SUCLA2,missense_variant,p.Asp76Tyr,ENST00000634878,;SUCLA2,3_prime_UTR_variant,,ENST00000497202,;	A	ENST00000378654	Transcript	missense_variant	836/2192	751/1392	251/463	D/Y	Gat/Tat	rs397515462	1		-1	SUCLA2	HGNC	HGNC:11448	protein_coding	YES	CCDS9406.1	ENSP00000367923	Q9P2R7	E5KS60	UPI000013CFEB	NM_003850.2	deleterious(0)		6/11		Gene3D:3.30.470.20,HAMAP:MF_00558,Pfam_domain:PF08442,PIRSF_domain:PIRSF001554,PROSITE_profiles:PS50975,hmmpanther:PTHR11815,hmmpanther:PTHR11815:SF1,Superfamily_domains:SSF56059,TIGRFAM_domain:TIGR01016										pathogenic							MODERATE	1	SNV	1		1	1										PASS		rs397515462	.												A	3	1	63	47968646	47968646	C	A	1	0	0	0	0	1	0	0	0	15747	884	31	1		1	SUCLA2	13	47968646	Missense_Mutation	SNP	C	C3N-00704_TP	5068327	47968646	66395682	453	20950											
NALCN	0	.	GRCh38	chr13	101068824	101068824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtacaaaacggaggctGaacctttggggcattggggt	10	9	16	6	1	0	1	0	1	0	0	0	3	0	3	1	7	3	3	1	7	4	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.4201C>A	p.Gln1401Lys	p.Q1401K	ENST00000251127	38/44	75	66	9	95	95	0	strelka-mutect	NALCN,missense_variant,p.Gln1401Lys,ENST00000251127,NM_052867.2;	T	ENST00000251127	Transcript	missense_variant	4283/6818	4201/5217	1401/1738	Q/K	Cag/Aag		1		-1	NALCN	HGNC	HGNC:19082	protein_coding	YES	CCDS9498.1	ENSP00000251127	Q8IZF0	A0A024RE05	UPI000004EBBD	NM_052867.2	tolerated(0.25)		38/44		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF214,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	101068824	101068824	G	T	1	0	0	0	0	1	0	0	0	10155	1304	45	2		2	NALCN	13	101068824	Missense_Mutation	SNP	G	C3N-00704_TP	53100178	101068824	13295504	454	20951											
FAM155A	0	.	GRCh38	chr13	107866176	107866176	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttgcccttgccgccgcCgccgccgccgtctcccgggg	0	7	14	20	8	1	0	0	0	1	0	3	0	1	0	8	3	2	1	8	3	0	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.421G>T	p.Gly141Cys	p.G141C	ENST00000375915	1/3	74	64	10	94	94	0	strelka-varscan-mutect	FAM155A,missense_variant,p.Gly141Cys,ENST00000375915,NM_001080396.2;RP11-346C4.3,upstream_gene_variant,,ENST00000622038,;	A	ENST00000375915	Transcript	missense_variant	560/8503	421/1377	141/458	G/C	Ggc/Tgc		1		-1	FAM155A	HGNC	HGNC:33877	protein_coding	YES	CCDS32006.1	ENSP00000365080	B1AL88		UPI000045882C	NM_001080396.2	tolerated_low_confidence(0.16)		1/3		hmmpanther:PTHR15819,hmmpanther:PTHR15819:SF9,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	107866176	107866176	C	A	1	0	0	0	0	1	0	0	0	5313	652	23	1		1	FAM155A	13	107866176	Missense_Mutation	SNP	C	C3N-00704_TP	6797352	107866176	6498152	455	20952											
MYO16	0	.	GRCh38	chr13	109179598	109179598	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtggcacagggacttcgAcatttcaaagacacagggac	14	7	11	9	1	1	1	1	0	0	1	2	4	1	3	0	3	0	1	0	3	2	3	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.5380A>T	p.Thr1794Ser	p.T1794S	ENST00000457511	34/35	136	116	20	184	184	0	strelka-varscan-mutect	MYO16,missense_variant,p.Thr1794Ser,ENST00000457511,NM_001198950.1;MYO16,missense_variant,p.Thr1772Ser,ENST00000356711,NM_015011.1;MYO16,missense_variant,p.Thr1772Ser,ENST00000357550,;MYO16-AS1,intron_variant,,ENST00000439299,;	T	ENST00000457511	Transcript	missense_variant	6002/7436	5380/5643	1794/1880	T/S	Aca/Tca		1		1	MYO16	HGNC	HGNC:29822	protein_coding	YES	CCDS73598.1	ENSP00000401633		F8W883	UPI00002375AE	NM_001198950.1	tolerated_low_confidence(1)		34/35																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	109179598	109179598	A	T	1	0	0	0	0	1	0	0	0	10065	275	10	4		4	MYO16	13	109179598	Missense_Mutation	SNP	A	C3N-00704_TP	1313422	109179598	5184730	456	20953											
COL4A1	0	.	GRCh38	chr13	110201476	110201476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggccccggagttccaGggtagcccctctctcctttt	3	13	9	16	1	2	0	0	0	2	0	5	1	4	1	6	3	1	2	6	3	1	5	rs771204034		C3N-00704_TP	C3N-00704_NB	G	G																c.1046C>A	p.Pro349His	p.P349H	ENST00000375820	19/52	246	205	41	322	322	0	strelka-varscan-mutect	COL4A1,missense_variant,p.Pro349His,ENST00000375820,NM_001845.5;COL4A1,missense_variant,p.Pro349His,ENST00000543140,NM_001303110.1;	T	ENST00000375820	Transcript	missense_variant	1168/6532	1046/5010	349/1669	P/H	cCt/cAt	rs771204034	1		-1	COL4A1	HGNC	HGNC:2202	protein_coding	YES	CCDS9511.1	ENSP00000364979	P02462		UPI000004981D	NM_001845.5	deleterious(0.02)		19/52		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs771204034	.												T	3	4	63	110201476	110201476	G	T	1	0	0	0	0	1	0	0	0	3478	1000	35	2		2	COL4A1	13	110201476	Missense_Mutation	SNP	G	C3N-00704_TP	1021878	110201476	4162852	457	20954											
COL4A1	0	.	GRCh38	chr13	110212610	110212610	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtagccagatgctccCggaggtccctgtgagggcgg	6	6	17	12	2	0	2	0	1	0	1	2	3	2	3	4	5	2	2	4	5	1	1	rs748783113		C3N-00704_TP	C3N-00704_NB	C	C																c.288G>T	p.=	p.P96P	ENST00000375820	5/52	306	255	51	359	358	1	strelka-varscan-mutect	COL4A1,synonymous_variant,p.=,ENST00000375820,NM_001845.5;COL4A1,synonymous_variant,p.=,ENST00000543140,NM_001303110.1;COL4A1,synonymous_variant,p.=,ENST00000615732,;	A	ENST00000375820	Transcript	synonymous_variant	410/6532	288/5010	96/1669	P	ccG/ccT	rs748783113	1		-1	COL4A1	HGNC	HGNC:2202	protein_coding	YES	CCDS9511.1	ENSP00000364979	P02462		UPI000004981D	NM_001845.5			5/52		Pfam_domain:PF01391,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF543																	LOW	1	SNV	1			1										PASS		rs748783113	.												A	2	1	63	110212610	110212610	C	A	1	0	0	0	0	0	0	0	1	3478	639	23	1		1	COL4A1	13	110212610	Silent	SNP	C	C3N-00704_TP	11134	110212610	4151718	458	20955											
OR11H2	0	.	GRCh38	chr14	19713025	19713025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gataaggggattgaagagtgGggtcaccatagcatagaaca	15	7	14	5	0	1	3	1	1	0	2	1	5	1	4	1	4	2	1	1	4	5	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.892C>A	p.Pro298Thr	p.P298T	ENST00000556246	1/1	353	323	30	502	502	0	varscan-mutect	OR11H2,missense_variant,p.Pro298Thr,ENST00000556246,NM_001197287.1;	T	ENST00000556246	Transcript	missense_variant	896/985	892/981	298/326	P/T	Cca/Aca		1		-1	OR11H2	HGNC	HGNC:14716	protein_coding	YES	CCDS76655.1	ENSP00000485150	Q8NH07		UPI0000061EAC	NM_001197287.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF201,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1471645703	.												T	3	4	63	19713025	19713025	G	T	1	0	0	0	0	1	0	0	0	11004	1232	43	2		2	OR11H2	14	19713025	Missense_Mutation	SNP	G	C3N-00704_TP		19713025	87330693	459	20956											
OR4N2	0	.	GRCh38	chr14	19827616	19827616	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagaccctgggctcacAgcccccctctatttctttct	7	12	6	16	0	5	1	2	0	3	1	5	1	5	1	4	1	1	1	4	1	2	3			C3N-00704_TP	C3N-00704_NB	A	A																c.168A>T	p.=	p.T56T	ENST00000315947	1/1	292	275	17	396	396	0	varscan-mutect	OR4N2,synonymous_variant,p.=,ENST00000315947,NM_001004723.2;OR4N2,synonymous_variant,p.=,ENST00000557677,;OR4N2,downstream_gene_variant,,ENST00000557414,;	T	ENST00000315947	Transcript	synonymous_variant	168/924	168/924	56/307	T	acA/acT	COSM5070113	1		1	OR4N2	HGNC	HGNC:14742	protein_coding	YES	CCDS32022.1	ENSP00000319601	Q8NGD1	A0A126GVT2	UPI000004A5DF	NM_001004723.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF439,Superfamily_domains:SSF81321											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	63	19827616	19827616	A	T	1	0	0	0	0	0	0	0	1	11153	175	7	4		4	OR4N2	14	19827616	Silent	SNP	A	C3N-00704_TP	114591	19827616	87216102	460	20957											
OR4K2	0	.	GRCh38	chr14	19876930	19876930	+	Silent	SNP	C	C	A																															tttaattcatatgttattgtCctggttactgtgaagcatca																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.663C>A	p.=	p.V221V	ENST00000298642	1/1	655	620	35	923	923	0	strelka-varscan-mutect	OR4K2,synonymous_variant,p.=,ENST00000298642,NM_001005501.1;	A	ENST00000298642	Transcript	synonymous_variant	699/1078	663/945	221/314	V	gtC/gtA		1		1	OR4K2	HGNC	HGNC:14728	protein_coding	YES	CCDS32023.1	ENSP00000298642	Q8NGD2	A0A126GVP5	UPI0000041B4D	NM_001005501.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF260,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs997624085	.												A	2	1	63	19876930	19876930	C	A	1	0	0	0	0	0	0	0	1	11149	842	30	2		2	OR4K2	14	19876930	Silent	SNP	C	C3N-00704_TP	49314	19876930	87166788	461	20958	444	2									
OR4K2	0	.	GRCh38	chr14	19876931	19876931	+	Missense_Mutation	SNP	C	C	A																															ttaattcatatgttattgtcCtggttactgtgaagcatcat																								rs771348325		C3N-00704_TP	C3N-00704_NB	C	C																c.664C>A	p.Leu222Met	p.L222M	ENST00000298642	1/1	663	623	40	936	936	0	strelka-varscan-mutect	OR4K2,missense_variant,p.Leu222Met,ENST00000298642,NM_001005501.1;	A	ENST00000298642	Transcript	missense_variant	700/1078	664/945	222/314	L/M	Ctg/Atg	rs771348325	1		1	OR4K2	HGNC	HGNC:14728	protein_coding	YES	CCDS32023.1	ENSP00000298642	Q8NGD2	A0A126GVP5	UPI0000041B4D	NM_001005501.1	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF260,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs771348325	.												A	3	1	63	19876931	19876931	C	A	1	0	0	0	0	1	0	0	0	11149	680	24	2		2	OR4K2	14	19876931	Missense_Mutation	SNP	C	C3N-00704_TP	1	19876931	87166787	462	20959	444	2									
OR4N5	0	.	GRCh38	chr14	20144293	20144293	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgttccacaggtcatcaaGctggcctgcaccaatacctt	10	10	8	13	0	2	0	2	0	0	0	3	1	3	0	4	2	3	3	4	2	3	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.558G>C	p.Lys186Asn	p.K186N	ENST00000333629	1/1	212	172	40	267	267	0	strelka-varscan-mutect	OR4N5,missense_variant,p.Lys186Asn,ENST00000333629,NM_001004724.1;PSMB7P1,upstream_gene_variant,,ENST00000556349,;	C	ENST00000333629	Transcript	missense_variant	558/927	558/927	186/308	K/N	aaG/aaC		1		1	OR4N5	HGNC	HGNC:15358	protein_coding	YES	CCDS32031.1	ENSP00000332110	Q8IXE1	A0A126GVN4	UPI0000041C40	NM_001004724.1	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF40,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	63	20144293	20144293	G	C	1	0	0	0	0	1	0	0	0	11155	962	34	4		4	OR4N5	14	20144293	Missense_Mutation	SNP	G	C3N-00704_TP	267362	20144293	86899425	463	20960											
RNASE13	0	.	GRCh38	chr14	21034090	21034090	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatggatctttgggcaatCtgaattttgcatcttgcctc	9	16	8	8	0	3	1	0	1	3	0	4	2	3	2	1	2	2	2	1	2	3	5	rs745935764		C3N-00704_TP	C3N-00704_NB	C	C																c.199G>T	p.Asp67Tyr	p.D67Y	ENST00000382951	2/2	244	210	34	308	308	0	strelka-varscan-mutect	RNASE13,missense_variant,p.Asp67Tyr,ENST00000382951,NM_001012264.3;NDRG2,intron_variant,,ENST00000403829,NM_001282211.1;NDRG2,intron_variant,,ENST00000555026,;TPPP2,intron_variant,,ENST00000472458,;TPPP2,intron_variant,,ENST00000555751,;TPPP2,intron_variant,,ENST00000481535,;TPPP2,downstream_gene_variant,,ENST00000321760,NM_173846.4;TPPP2,downstream_gene_variant,,ENST00000530140,;TPPP2,downstream_gene_variant,,ENST00000460647,;AL161668.5,downstream_gene_variant,,ENST00000533984,;AL161668.5,downstream_gene_variant,,ENST00000532213,;RP11-998D10.1,downstream_gene_variant,,ENST00000531638,;TPPP2,intron_variant,,ENST00000495665,;TPPP2,intron_variant,,ENST00000529496,;TPPP2,downstream_gene_variant,,ENST00000534434,;TPPP2,downstream_gene_variant,,ENST00000533755,;TPPP2,downstream_gene_variant,,ENST00000525425,;TPPP2,downstream_gene_variant,,ENST00000532060,;	A	ENST00000382951	Transcript	missense_variant	337/1607	199/471	67/156	D/Y	Gat/Tat	rs745935764	1		-1	RNASE13	HGNC	HGNC:25285	protein_coding	YES	CCDS32039.1	ENSP00000372410	Q5GAN3	V9HW52	UPI00001FCFB5	NM_001012264.3	tolerated(1)		2/2		Gene3D:3.10.130.10,PD000535,Pfam_domain:PF00074,hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF11,Superfamily_domains:SSF54076																	MODERATE	1	SNV	1			1										PASS		rs745935764	.												A	3	1	63	21034090	21034090	C	A	1	0	0	0	0	1	0	0	0	13582	913	32	2		2	RNASE13	14	21034090	Missense_Mutation	SNP	C	C3N-00704_TP	889797	21034090	86009628	464	20961											
IPO4	0	.	GRCh38	chr14	24187772	24187772	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaatggtggctgagagctgGgccaggctgaggctcacaca	11	6	15	9	0	1	2	1	2	0	1	1	3	1	2	1	5	1	4	1	5	2	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.303C>T	p.=	p.A101A	ENST00000354464	5/30	161	130	31	211	211	0	strelka-varscan-mutect	IPO4,synonymous_variant,p.=,ENST00000354464,NM_024658.3;RP11-468E2.2,intron_variant,,ENST00000625289,;RP11-468E2.1,downstream_gene_variant,,ENST00000530611,;TM9SF1,downstream_gene_variant,,ENST00000261789,NM_006405.6;TM9SF1,downstream_gene_variant,,ENST00000528669,;TM9SF1,downstream_gene_variant,,ENST00000396854,NM_001014842.2;TM9SF1,downstream_gene_variant,,ENST00000524835,NM_001289006.1;IPO4,upstream_gene_variant,,ENST00000561462,;IPO4,upstream_gene_variant,,ENST00000558233,;TM9SF1,downstream_gene_variant,,ENST00000528895,;TM9SF1,downstream_gene_variant,,ENST00000530563,;TM9SF1,downstream_gene_variant,,ENST00000532632,;IPO4,missense_variant,p.Pro91Ser,ENST00000558046,;IPO4,synonymous_variant,p.=,ENST00000560155,;RP11-468E2.2,3_prime_UTR_variant,,ENST00000561419,;IPO4,3_prime_UTR_variant,,ENST00000558780,;IPO4,non_coding_transcript_exon_variant,,ENST00000561090,;IPO4,non_coding_transcript_exon_variant,,ENST00000560798,;IPO4,non_coding_transcript_exon_variant,,ENST00000559588,;IPO4,non_coding_transcript_exon_variant,,ENST00000561199,;IPO4,non_coding_transcript_exon_variant,,ENST00000558193,;IPO4,non_coding_transcript_exon_variant,,ENST00000558718,;IPO4,non_coding_transcript_exon_variant,,ENST00000559635,;IPO4,intron_variant,,ENST00000559253,;TM9SF1,downstream_gene_variant,,ENST00000529332,;TM9SF1,downstream_gene_variant,,ENST00000531406,;IPO4,upstream_gene_variant,,ENST00000560935,;IPO4,upstream_gene_variant,,ENST00000561379,;IPO4,downstream_gene_variant,,ENST00000560222,;IPO4,downstream_gene_variant,,ENST00000560315,;IPO4,downstream_gene_variant,,ENST00000561034,;IPO4,downstream_gene_variant,,ENST00000557996,;	A	ENST00000354464	Transcript	synonymous_variant	480/3646	303/3246	101/1081	A	gcC/gcT		1		-1	IPO4	HGNC	HGNC:19426	protein_coding	YES	CCDS9616.1	ENSP00000346453	Q8TEX9		UPI000013CCB3	NM_024658.3			5/30		Gene3D:1.25.10.10,hmmpanther:PTHR10527,hmmpanther:PTHR10527:SF6,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		rs1426242676	.												A	2	1	63	24187772	24187772	G	A	1	0	0	0	0	0	0	0	1	7698	1219	43	3		3	IPO4	14	24187772	Silent	SNP	G	C3N-00704_TP	3153682	24187772	82855946	465	20962											
NOP9	0	.	GRCh38	chr14	24302283	24302283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttccagactcctggagcaGgtcctgctggtgttggagcc	6	10	14	11	0	0	1	0	0	0	1	3	3	3	3	4	4	3	4	4	4	0	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1002G>T	p.Gln334His	p.Q334H	ENST00000267425	5/10	196	168	28	173	173	0	strelka-varscan-mutect	NOP9,missense_variant,p.Gln334His,ENST00000267425,NM_174913.2;NOP9,missense_variant,p.Gln334His,ENST00000396802,NM_001286367.1;CIDEB,downstream_gene_variant,,ENST00000336557,NM_001318807.1;CIDEB,downstream_gene_variant,,ENST00000258807,NM_014430.2;CIDEB,downstream_gene_variant,,ENST00000554411,;DHRS1,upstream_gene_variant,,ENST00000288111,NM_001136050.2;DHRS1,upstream_gene_variant,,ENST00000396813,NM_138452.2;LTB4R2,upstream_gene_variant,,ENST00000527924,;NOP9,upstream_gene_variant,,ENST00000557362,;CIDEB,downstream_gene_variant,,ENST00000556756,;DHRS1,upstream_gene_variant,,ENST00000559483,;DHRS1,upstream_gene_variant,,ENST00000561273,;DHRS1,upstream_gene_variant,,ENST00000558340,;DHRS1,upstream_gene_variant,,ENST00000558114,;DHRS1,upstream_gene_variant,,ENST00000560991,;	T	ENST00000267425	Transcript	missense_variant	1095/6033	1002/1911	334/636	Q/H	caG/caT		1		1	NOP9	HGNC	HGNC:19826	protein_coding	YES	CCDS9624.1	ENSP00000267425	Q86U38		UPI000000CBCF	NM_174913.2	tolerated(0.06)		5/10		Gene3D:1.25.10.10,hmmpanther:PTHR13102,hmmpanther:PTHR13102:SF0,Low_complexity_(Seg):seg,SMART_domains:SM00025,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs1332639713	.												T	3	4	63	24302283	24302283	G	T	1	0	0	0	0	1	0	0	0	10585	991	35	2		2	NOP9	14	24302283	Missense_Mutation	SNP	G	C3N-00704_TP	114511	24302283	82741435	466	20963											
ARHGAP5	0	.	GRCh38	chr14	32152521	32152521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagatacgtgataacacatCtaaacaggtatttttatttt	14	16	5	6	1	2	2	1	1	1	1	2	2	2	2	0	1	3	1	0	1	6	9	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.4174C>T	p.=	p.L1392L	ENST00000345122	6/7	112	106	6	229	229	0	varscan-mutect	ARHGAP5,synonymous_variant,p.=,ENST00000345122,NM_001030055.1;ARHGAP5,synonymous_variant,p.=,ENST00000396582,;ARHGAP5,synonymous_variant,p.=,ENST00000432921,;ARHGAP5,synonymous_variant,p.=,ENST00000539826,;ARHGAP5,synonymous_variant,p.=,ENST00000556611,NM_001173.2;ARHGAP5,synonymous_variant,p.=,ENST00000433497,;ARHGAP5,synonymous_variant,p.=,ENST00000554090,;ARHGAP5,3_prime_UTR_variant,,ENST00000557643,;ARHGAP5,upstream_gene_variant,,ENST00000216743,;	T	ENST00000345122	Transcript	synonymous_variant	4489/9604	4174/4509	1392/1502	L	Cta/Tta		1		1	ARHGAP5	HGNC	HGNC:675	protein_coding	YES	CCDS32062.1	ENSP00000371897	Q13017		UPI000057B85C	NM_001030055.1			6/7		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4,SMART_domains:SM00324,Superfamily_domains:SSF48350																	LOW	1	SNV	5			1										PASS		rs1374270897	.												T	2	4	63	32152521	32152521	C	T	1	0	0	0	0	0	0	0	1	1016	912	32	3		3	ARHGAP5	14	32152521	Silent	SNP	C	C3N-00704_TP	7850238	32152521	74891197	467	20964											
LRFN5	0	.	GRCh38	chr14	41891258	41891258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtccctcagaatgatacCtcctacgagcaaaacttttc	12	12	5	12	1	1	2	1	1	0	1	4	3	3	2	3	0	4	1	3	0	5	5	rs767752963		C3N-00704_TP	C3N-00704_NB	C	C																c.1394C>G	p.Pro465Arg	p.P465R	ENST00000298119	4/6	208	169	39	336	336	0	strelka-mutect	LRFN5,missense_variant,p.Pro465Arg,ENST00000298119,NM_152447.3;LRFN5,intron_variant,,ENST00000554171,;LRFN5,intron_variant,,ENST00000554120,;	G	ENST00000298119	Transcript	missense_variant	2583/3723	1394/2160	465/719	P/R	cCt/cGt	rs767752963	1		1	LRFN5	HGNC	HGNC:20360	protein_coding	YES	CCDS9678.1	ENSP00000298119	Q96NI6		UPI000000DA1E	NM_152447.3	deleterious(0)		4/6		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs767752963	.												G	3	3	63	41891258	41891258	C	G	1	0	0	0	0	1	0	0	0	8835	681	24	4		4	LRFN5	14	41891258	Missense_Mutation	SNP	C	C3N-00704_TP	9738737	41891258	65152460	468	20965											
MDGA2	0	.	GRCh38	chr14	47035281	47035281	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaatggtgatttttcctGtggaacagtcagattgggtg	9	13	13	6	0	1	2	1	1	0	1	2	4	2	3	2	3	1	0	2	3	2	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1342C>G	p.Gln448Glu	p.Q448E	ENST00000399232	8/17	146	89	57	159	159	0	strelka-varscan-mutect	MDGA2,missense_variant,p.Gln318Glu,ENST00000426342,;MDGA2,missense_variant,p.Gln448Glu,ENST00000399232,NM_001113498.2;MDGA2,missense_variant,p.Gln219Glu,ENST00000357362,NM_182830.4;MDGA2,missense_variant,p.Gln223Glu,ENST00000554762,;MDGA2,splice_region_variant,,ENST00000557238,;	C	ENST00000399232	Transcript	missense_variant	1707/5075	1342/2871	448/956	Q/E	Cag/Gag		1		-1	MDGA2	HGNC	HGNC:19835	protein_coding	YES	CCDS45098.3	ENSP00000382178	Q7Z553		UPI00001C14FF	NM_001113498.2	tolerated(0.47)		8/17		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF62,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	63	47035281	47035281	G	C	1	0	0	0	0	1	0	0	0	9345	1386	48	4		4	MDGA2	14	47035281	Missense_Mutation	SNP	G	C3N-00704_TP	5144023	47035281	60008437	469	20966											
L2HGDH	0	.	GRCh38	chr14	50247059	50247059	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctagctcctttcattattTataattcaaatctttgttgt	10	20	3	8	0	3	0	2	0	1	0	4	0	4	0	2	0	1	2	2	0	5	9	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1391A>T	p.Ter464LeuextTer10	p.*464Lext*10	ENST00000267436	10/10	159	115	44	175	175	0	strelka-varscan-mutect	L2HGDH,stop_lost,p.Ter464LeuextTer10,ENST00000267436,NM_024884.2;L2HGDH,stop_lost,p.Ter464LeuextTer16,ENST00000421284,;L2HGDH,intron_variant,,ENST00000261699,;	A	ENST00000267436	Transcript	stop_lost	1789/6414	1391/1392	464/463	*/L	tAa/tTa		1		-1	L2HGDH	HGNC	HGNC:20499	protein_coding	YES	CCDS9698.1	ENSP00000267436	Q9H9P8		UPI0000048F63	NM_024884.2			10/10																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	63	50247059	50247059	T	A	1	0	0	0	0	0	0	0	0	8491	1761	61	4		4	L2HGDH	14	50247059	Nonstop_Mutation	SNP	T	C3N-00704_TP	3211778	50247059	56796659	470	20967											
C14orf39	0	.	GRCh38	chr14	60455005	60455005	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctcatattacctgaTctgatgagatttctgtatca	9	17	7	8	0	4	3	2	3	3	1	5	4	4	3	1	1	1	2	1	1	3	5			C3N-00704_TP	C3N-00704_NB	T	T																c.1499A>T	p.Asp500Val	p.D500V	ENST00000321731	16/18	35	21	14	78	77	1	strelka-varscan-mutect	C14orf39,missense_variant,p.Asp500Val,ENST00000321731,NM_174978.2;C14orf39,missense_variant,p.Asp16Val,ENST00000498565,;C14orf39,3_prime_UTR_variant,,ENST00000557138,;	A	ENST00000321731	Transcript	missense_variant	1659/2813	1499/1764	500/587	D/V	gAt/gTt	COSM4666857	1		-1	C14orf39	HGNC	HGNC:19849	protein_coding	YES	CCDS9746.1	ENSP00000324920	Q8N1H7		UPI0000140C15	NM_174978.2	deleterious(0)		16/18		hmmpanther:PTHR35449,Pfam_domain:PF15676											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	63	60455005	60455005	T	A	1	0	0	0	0	1	0	0	0	1839	1449	50	4		4	C14orf39	14	60455005	Missense_Mutation	SNP	T	C3N-00704_TP	10207946	60455005	46588713	471	20968											
SLC38A6	0	.	GRCh38	chr14	61052356	61052356	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttatttccacaggcattcgTtttgctcatctttggaattt	7	19	6	9	1	2	0	1	0	1	0	4	1	3	1	1	2	1	3	1	2	2	7	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1298T>G	p.Val433Gly	p.V433G	ENST00000267488	16/16	79	72	7	210	210	0	strelka-mutect	SLC38A6,missense_variant,p.Val433Gly,ENST00000267488,NM_153811.2;SLC38A6,missense_variant,p.Val206Gly,ENST00000529212,;SLC38A6,intron_variant,,ENST00000354886,NM_001172702.1;SLC38A6,intron_variant,,ENST00000451406,;SLC38A6,3_prime_UTR_variant,,ENST00000525723,;SLC38A6,3_prime_UTR_variant,,ENST00000491344,;SLC38A6,3_prime_UTR_variant,,ENST00000527591,;SLC38A6,non_coding_transcript_exon_variant,,ENST00000556938,;SLC38A6,non_coding_transcript_exon_variant,,ENST00000554498,;SLC38A6,intron_variant,,ENST00000529345,;SLC38A6,intron_variant,,ENST00000526539,;	G	ENST00000267488	Transcript	missense_variant	1414/1688	1298/1371	433/456	V/G	gTt/gGt		1		1	SLC38A6	HGNC	HGNC:19863	protein_coding		CCDS9751.1	ENSP00000267488	Q8IZM9		UPI000013D755	NM_153811.2	deleterious(0.05)		16/16		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF72,Transmembrane_helices:TMhelix																	MODERATE		SNV	1			1										PASS		.	.												G	3	3	63	61052356	61052356	T	G	1	0	0	0	0	1	0	0	0	14886	1725	60	5		5	SLC38A6	14	61052356	Missense_Mutation	SNP	T	C3N-00704_TP	597351	61052356	45991362	472	20969											
FLRT2	0	.	GRCh38	chr14	85621985	85621985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagacggggccttccgggaGgctattagcctcaaattgtt	9	10	13	9	2	1	1	1	0	0	1	2	3	2	2	3	4	1	2	3	4	4	5	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.471G>T	p.Glu157Asp	p.E157D	ENST00000330753	2/2	52	44	8	77	77	0	strelka-varscan-mutect	FLRT2,missense_variant,p.Glu157Asp,ENST00000330753,NM_013231.4;FLRT2,missense_variant,p.Glu157Asp,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	T	ENST00000330753	Transcript	missense_variant	1238/33679	471/1983	157/660	E/D	gaG/gaT		1		1	FLRT2	HGNC	HGNC:3761	protein_coding	YES	CCDS9877.1	ENSP00000332879	O43155		UPI0000049E10	NM_013231.4	tolerated(1)		2/2		hmmpanther:PTHR24369:SF23,hmmpanther:PTHR24369,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	85621985	85621985	G	T	1	0	0	0	0	1	0	0	0	5795	991	35	2		2	FLRT2	14	85621985	Missense_Mutation	SNP	G	C3N-00704_TP	24569629	85621985	21421733	473	20970											
UNC79	0	.	GRCh38	chr14	93612842	93612842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcaaggacctgctccCagaagacgctgggatcgacc	11	5	10	15	2	1	2	1	0	0	2	3	5	2	4	4	2	1	2	4	2	2	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.3269C>A	p.Pro1090Gln	p.P1090Q	ENST00000256339	27/50	220	176	44	233	233	0	strelka-varscan-mutect	UNC79,missense_variant,p.Pro1289Gln,ENST00000553484,;UNC79,missense_variant,p.Pro1267Gln,ENST00000555664,;UNC79,missense_variant,p.Pro1090Gln,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Pro1267Gln,ENST00000393151,;UNC79,missense_variant,p.Pro1090Gln,ENST00000621021,;	A	ENST00000256339	Transcript	missense_variant	3924/8400	3269/7377	1090/2458	P/Q	cCa/cAa		1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3	tolerated(0.08)		27/50		hmmpanther:PTHR21696:SF2,hmmpanther:PTHR21696																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	63	93612842	93612842	C	A	1	0	0	0	0	1	0	0	0	17520	594	21	2		2	UNC79	14	93612842	Missense_Mutation	SNP	C	C3N-00704_TP	7990857	93612842	13430876	474	20971											
IFI27L1	0	.	GRCh38	chr14	94100769	94100769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtagcagctgtggtcggagGaggtgagtctctatgggaag	8	10	18	5	1	1	1	0	1	1	0	3	4	1	4	0	5	2	3	0	5	3	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.59G>T	p.Gly20Val	p.G20V	ENST00000555523	3/5	382	305	77	385	383	2	strelka-varscan-mutect	IFI27L1,missense_variant,p.Gly19Val,ENST00000556381,;IFI27L1,missense_variant,p.Gly20Val,ENST00000555523,NM_206949.2;IFI27L1,missense_variant,p.Gly20Val,ENST00000393115,NM_145249.2;IFI27L1,missense_variant,p.Arg42Ser,ENST00000553664,;IFI27L1,missense_variant,p.Gly19Val,ENST00000555341,;IFI27L1,missense_variant,p.Gly19Val,ENST00000554166,;IFI27L1,missense_variant,p.Gly20Val,ENST00000557066,;IFI27L1,missense_variant,p.Gly20Val,ENST00000554562,;IFI27L1,missense_variant,p.Gly20Val,ENST00000557218,;IFI27L1,intron_variant,,ENST00000554544,;IFI27,upstream_gene_variant,,ENST00000614204,;IFI27L1,intron_variant,,ENST00000553350,;IFI27L1,non_coding_transcript_exon_variant,,ENST00000557600,;	T	ENST00000555523	Transcript	missense_variant,splice_region_variant	278/680	59/315	20/104	G/V	gGa/gTa		1		1	IFI27L1	HGNC	HGNC:19754	protein_coding	YES	CCDS9919.1	ENSP00000451851	Q96BM0		UPI000012A3C8	NM_206949.2	deleterious(0.01)		3/5		Pfam_domain:PF06140,hmmpanther:PTHR16932,hmmpanther:PTHR16932:SF22,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	63	94100769	94100769	G	T	1	0	0	0	0	1	0	0	0	7414	1188	41	2		2	IFI27L1	14	94100769	Missense_Mutation	SNP	G	C3N-00704_TP	487927	94100769	12942949	475	20972											
IFI27L2	0	.	GRCh38	chr14	94128555	94128555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggctccccgcagaaacaCcacccccgttggcaatggct	9	5	9	18	2	0	1	0	0	0	1	1	1	1	1	6	3	1	5	6	3	2	1	rs777656704		C3N-00704_TP	C3N-00704_NB	C	C																c.158G>A	p.Gly53Asp	p.G53D	ENST00000238609	3/4	251	209	42	274	274	0	strelka-varscan-mutect	IFI27L2,missense_variant,p.Gly28Asp,ENST00000556727,;IFI27L2,missense_variant,p.Gly53Asp,ENST00000238609,NM_032036.2;IFI27L2,non_coding_transcript_exon_variant,,ENST00000556552,;IFI27L2,non_coding_transcript_exon_variant,,ENST00000554909,;IFI27L2,non_coding_transcript_exon_variant,,ENST00000555558,;IFI27L2,intron_variant,,ENST00000553601,;	T	ENST00000238609	Transcript	missense_variant	258/511	158/393	53/130	G/D	gGt/gAt	rs777656704,COSM4923132	1		-1	IFI27L2	HGNC	HGNC:19753	protein_coding	YES	CCDS9920.1	ENSP00000238609	Q9H2X8		UPI0000049526	NM_032036.2	deleterious(0)		3/4		hmmpanther:PTHR16932,hmmpanther:PTHR16932:SF2,Pfam_domain:PF06140											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs777656704	.												T	3	4	63	94128555	94128555	C	T	1	0	0	0	0	1	0	0	0	7415	507	18	3		3	IFI27L2	14	94128555	Missense_Mutation	SNP	C	C3N-00704_TP	27786	94128555	12915163	476	20973											
PPP4R4	0	.	GRCh38	chr14	94256524	94256524	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agattcctgctgataagcatCtacttcagcagttagaaatg	13	12	8	8	0	2	3	1	1	1	2	3	3	3	3	1	0	4	4	1	0	4	5	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1930C>G	p.Leu644Val	p.L644V	ENST00000304338	17/25	99	94	5	169	169	0	strelka-varscan	PPP4R4,missense_variant,p.Leu644Val,ENST00000304338,NM_058237.1;	G	ENST00000304338	Transcript	missense_variant	2084/3868	1930/2622	644/873	L/V	Cta/Gta		1		1	PPP4R4	HGNC	HGNC:23788	protein_coding	YES	CCDS9921.1	ENSP00000305924	Q6NUP7		UPI000016223B	NM_058237.1	deleterious(0.03)		17/25		Gene3D:1.25.10.10,hmmpanther:PTHR21467,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	63	94256524	94256524	C	G	1	0	0	0	0	1	0	0	0	12530	912	32	4		4	PPP4R4	14	94256524	Missense_Mutation	SNP	C	C3N-00704_TP	127969	94256524	12787194	477	20974											
TCL1A	0	.	GRCh38	chr14	95714053	95714053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgactgcctccccgagtgtcGggcactcggccatggcgtcc	4	8	13	16	4	0	1	0	1	0	0	4	2	2	1	5	3	1	1	5	3	0	0	rs772465102		C3N-00704_TP	C3N-00704_NB	G	G																c.14C>A	p.Pro5Gln	p.P5Q	ENST00000402399	1/4	137	115	22	161	161	0	strelka-varscan-mutect	TCL1A,missense_variant,p.Pro5Gln,ENST00000402399,NM_021966.2;TCL1A,missense_variant,p.Pro5Gln,ENST00000554012,NM_001098725.1;TCL1A,missense_variant,p.Pro5Gln,ENST00000556450,;TCL1A,missense_variant,p.Pro5Gln,ENST00000555202,;TCL1A,upstream_gene_variant,,ENST00000557043,;RP11-164H13.1,intron_variant,,ENST00000553445,;RP11-164H13.1,intron_variant,,ENST00000547644,;RP11-164H13.1,upstream_gene_variant,,ENST00000556386,;TCL1A,missense_variant,p.Pro5Gln,ENST00000554119,;TCL1A,missense_variant,p.Pro5Gln,ENST00000556156,;TCL1A,missense_variant,p.Pro5Gln,ENST00000555886,;TCL1A,upstream_gene_variant,,ENST00000553467,;	T	ENST00000402399	Transcript	missense_variant	144/1395	14/345	5/114	P/Q	cCg/cAg	rs772465102	1		-1	TCL1A	HGNC	HGNC:11648	protein_coding	YES	CCDS9941.1	ENSP00000385036	P56279	A0A024R6G5	UPI00000413AD	NM_021966.2	tolerated(0.23)		1/4		Gene3D:2.40.15.10,Pfam_domain:PF01840,hmmpanther:PTHR14060,hmmpanther:PTHR14060:SF4																	MODERATE	1	SNV	1			1										PASS		rs772465102	.												T	3	4	63	95714053	95714053	G	T	1	0	0	0	0	1	0	0	0	16111	1116	39	1		1	TCL1A	14	95714053	Missense_Mutation	SNP	G	C3N-00704_TP	1457529	95714053	11329665	478	20975											
SLC25A47	0	.	GRCh38	chr14	100328751	100328751	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacgtcgcccactgaggTggccaaagtccgcttgcaga	8	7	12	14	3	0	3	0	2	0	1	2	3	1	3	4	2	1	2	4	2	1	1	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.353T>A	p.Val118Glu	p.V118E	ENST00000361529	5/6	620	452	168	693	693	0	strelka-varscan-mutect	SLC25A47,missense_variant,p.Val118Glu,ENST00000361529,NM_207117.2;SLC25A47,5_prime_UTR_variant,,ENST00000557052,;	A	ENST00000361529	Transcript	missense_variant	431/1738	353/927	118/308	V/E	gTg/gAg		1		1	SLC25A47	HGNC	HGNC:20115	protein_coding	YES	CCDS9959.1	ENSP00000354886	Q6Q0C1	A0A024R6H7	UPI000004ABFB	NM_207117.2	deleterious(0)		5/6		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF224,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588,Prints_domain:PR00926																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	100328751	100328751	T	A	1	0	0	0	0	1	0	0	0	14777	1696	59	4		4	SLC25A47	14	100328751	Missense_Mutation	SNP	T	C3N-00704_TP	4614698	100328751	6714967	479	20976											
RTL1	0	.	GRCh38	chr14	100881633	100881633	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctggtcgatgggtatcatGgccagcagctcttgccgtag	7	11	13	10	2	3	0	1	0	2	0	4	1	3	0	2	3	3	4	2	3	2	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.3156C>A	p.=	p.A1052A	ENST00000534062	1/1	157	135	22	214	214	0	strelka-varscan-mutect	RTL1,synonymous_variant,p.=,ENST00000534062,NM_001134888.2;MEG8,intron_variant,,ENST00000637474,;MIR431,downstream_gene_variant,,ENST00000385266,;MIR127,upstream_gene_variant,,ENST00000384876,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR433,upstream_gene_variant,,ENST00000384837,;MIR136,upstream_gene_variant,,ENST00000385207,;	T	ENST00000534062	Transcript	synonymous_variant	3215/4193	3156/4077	1052/1358	A	gcC/gcA		1		-1	RTL1	HGNC	HGNC:14665	protein_coding	YES	CCDS53910.1	ENSP00000435342	A6NKG5		UPI00001D7B9E	NM_001134888.2			1/1		hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF9																	LOW	1	SNV				1										PASS		.	.												T	2	4	63	100881633	100881633	G	T	1	0	0	0	0	0	0	0	1	13984	1335	47	2		2	RTL1	14	100881633	Silent	SNP	G	C3N-00704_TP	552882	100881633	6162085	480	20977											
BAG5	0	.	GRCh38	chr14	103559853	103559853	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatcagatttcaggtcgaGatagctgagaatattctgcg	11	13	10	7	2	4	3	3	1	1	3	5	5	4	3	0	1	2	1	0	1	3	5	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1435C>G	p.Leu479Val	p.L479V	ENST00000337322	2/2	129	120	9	133	133	0	strelka-varscan-mutect	BAG5,missense_variant,p.Leu438Val,ENST00000445922,NM_004873.3;BAG5,missense_variant,p.Leu438Val,ENST00000299204,NM_001015048.2;BAG5,missense_variant,p.Leu479Val,ENST00000337322,NM_001015049.2;APOPT1,upstream_gene_variant,,ENST00000409074,NM_032374.4,NM_001302652.1;RP11-73M18.2,upstream_gene_variant,,ENST00000472726,;APOPT1,upstream_gene_variant,,ENST00000477116,;BAG5,downstream_gene_variant,,ENST00000557666,;APOPT1,upstream_gene_variant,,ENST00000556253,NM_001302653.1;APOPT1,upstream_gene_variant,,ENST00000476323,;APOPT1,upstream_gene_variant,,ENST00000473127,;APOPT1,upstream_gene_variant,,ENST00000495778,NM_001302654.1;APOPT1,upstream_gene_variant,,ENST00000440963,;KLC1,upstream_gene_variant,,ENST00000557172,;APOPT1,upstream_gene_variant,,ENST00000492189,;RP11-894P9.2,intron_variant,,ENST00000556332,;APOPT1,upstream_gene_variant,,ENST00000497901,;APOPT1,upstream_gene_variant,,ENST00000458117,;APOPT1,upstream_gene_variant,,ENST00000489117,;APOPT1,upstream_gene_variant,,ENST00000554625,;	C	ENST00000337322	Transcript	missense_variant	1726/1960	1435/1467	479/488	L/V	Ctc/Gtc		1		-1	BAG5	HGNC	HGNC:941	protein_coding	YES	CCDS41995.1	ENSP00000338814	Q9UL15		UPI00001FDC93	NM_001015049.2	deleterious(0)		2/2		PROSITE_profiles:PS51035,hmmpanther:PTHR12329,hmmpanther:PTHR12329:SF2,Pfam_domain:PF02179,Gene3D:1.20.58.120,SMART_domains:SM00264,Superfamily_domains:SSF63491																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	63	103559853	103559853	G	C	1	0	0	0	0	1	0	0	0	1448	942	33	4		4	BAG5	14	103559853	Missense_Mutation	SNP	G	C3N-00704_TP	2678220	103559853	3483865	481	20978											
BAG5	0	.	GRCh38	chr14	103560355	103560355	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatggaatgattctgtctCaggtcaaatgctttagttgt	12	15	9	5	0	3	1	2	1	2	0	4	2	3	2	0	2	1	2	0	2	5	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.933G>C	p.=	p.L311L	ENST00000337322	2/2	192	171	21	243	243	0	strelka-varscan-mutect	BAG5,synonymous_variant,p.=,ENST00000445922,NM_004873.3;BAG5,synonymous_variant,p.=,ENST00000299204,NM_001015048.2;BAG5,synonymous_variant,p.=,ENST00000337322,NM_001015049.2;APOPT1,upstream_gene_variant,,ENST00000409074,NM_032374.4,NM_001302652.1;RP11-73M18.2,upstream_gene_variant,,ENST00000472726,;APOPT1,upstream_gene_variant,,ENST00000477116,;BAG5,downstream_gene_variant,,ENST00000557666,;APOPT1,upstream_gene_variant,,ENST00000556253,NM_001302653.1;APOPT1,upstream_gene_variant,,ENST00000476323,;APOPT1,upstream_gene_variant,,ENST00000473127,;APOPT1,upstream_gene_variant,,ENST00000495778,NM_001302654.1;APOPT1,upstream_gene_variant,,ENST00000440963,;KLC1,upstream_gene_variant,,ENST00000557172,;APOPT1,upstream_gene_variant,,ENST00000492189,;RP11-894P9.2,intron_variant,,ENST00000556332,;APOPT1,upstream_gene_variant,,ENST00000497901,;APOPT1,upstream_gene_variant,,ENST00000458117,;APOPT1,upstream_gene_variant,,ENST00000489117,;APOPT1,upstream_gene_variant,,ENST00000554625,;	G	ENST00000337322	Transcript	synonymous_variant	1224/1960	933/1467	311/488	L	ctG/ctC		1		-1	BAG5	HGNC	HGNC:941	protein_coding	YES	CCDS41995.1	ENSP00000338814	Q9UL15		UPI00001FDC93	NM_001015049.2			2/2		hmmpanther:PTHR12329,hmmpanther:PTHR12329:SF2,Gene3D:1.20.58.120,Superfamily_domains:SSF63491																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	63	103560355	103560355	C	G	1	0	0	0	0	0	0	0	1	1448	813	29	4		4	BAG5	14	103560355	Silent	SNP	C	C3N-00704_TP	502	103560355	3483363	482	20979											
BAG5	0	.	GRCh38	chr14	103561122	103561122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttttacttccttttggatttCctgaagcctactaatagaag	10	17	6	8	0	0	2	0	1	0	1	2	3	2	3	3	1	3	0	3	1	6	9	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.166G>A	p.Glu56Lys	p.E56K	ENST00000337322	2/2	103	93	10	150	149	1	strelka-varscan-mutect	BAG5,missense_variant,p.Glu15Lys,ENST00000445922,NM_004873.3;BAG5,missense_variant,p.Glu15Lys,ENST00000299204,NM_001015048.2;BAG5,missense_variant,p.Glu56Lys,ENST00000337322,NM_001015049.2;BAG5,missense_variant,p.Glu15Lys,ENST00000557666,;APOPT1,upstream_gene_variant,,ENST00000409074,NM_032374.4,NM_001302652.1;RP11-73M18.2,upstream_gene_variant,,ENST00000472726,;APOPT1,upstream_gene_variant,,ENST00000477116,;APOPT1,upstream_gene_variant,,ENST00000556253,NM_001302653.1;APOPT1,upstream_gene_variant,,ENST00000476323,;APOPT1,upstream_gene_variant,,ENST00000473127,;APOPT1,upstream_gene_variant,,ENST00000495778,NM_001302654.1;APOPT1,upstream_gene_variant,,ENST00000440963,;KLC1,upstream_gene_variant,,ENST00000557172,;APOPT1,upstream_gene_variant,,ENST00000492189,;RP11-894P9.2,intron_variant,,ENST00000556332,;APOPT1,upstream_gene_variant,,ENST00000497901,;APOPT1,upstream_gene_variant,,ENST00000458117,;APOPT1,upstream_gene_variant,,ENST00000489117,;APOPT1,upstream_gene_variant,,ENST00000554625,;	T	ENST00000337322	Transcript	missense_variant	457/1960	166/1467	56/488	E/K	Gaa/Aaa		1		-1	BAG5	HGNC	HGNC:941	protein_coding	YES	CCDS41995.1	ENSP00000338814	Q9UL15		UPI00001FDC93	NM_001015049.2	deleterious(0.01)		2/2		PROSITE_profiles:PS51035,hmmpanther:PTHR12329,hmmpanther:PTHR12329:SF2,Pfam_domain:PF02179,Gene3D:1.20.58.120,SMART_domains:SM00264,Superfamily_domains:SSF63491																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	103561122	103561122	C	T	1	0	0	0	0	1	0	0	0	1448	864	30	3		3	BAG5	14	103561122	Missense_Mutation	SNP	C	C3N-00704_TP	767	103561122	3482596	483	20980											
AHNAK2	0	.	GRCh38	chr14	104950244	104950244	+	Frame_Shift_Del	DEL	C	C	-																															tggggaggtgccctttgaagCcggctccctcgggaaggggg																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.5207delG	p.Gly1736AlafsTer14	p.G1736Afs*14	ENST00000333244	7/7	401	316	85	743	743	0	sindel-varindel-pindel	AHNAK2,frameshift_variant,p.Gly1736AlafsTer14,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	-	ENST00000333244	Transcript	frameshift_variant	5327/18254	5207/17388	1736/5795	G/X	gGc/gc		1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2			7/7		hmmpanther:PTHR23348:SF37,hmmpanther:PTHR23348																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	63	104950244	104950244	C	-	1	0	1	0	1	0	0	0	0	492	739	26	0		0	AHNAK2	14	104950244	Frame_Shift_Del	DEL	C	C3N-00704_TP	1389122	104950244	2093474	484	20981											
NPAP1	0	.	GRCh38	chr15	24676936	24676936	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttcccccacctgctaagCtcccctgcctgtctgttgag	5	11	8	17	0	1	1	0	1	1	0	3	1	3	1	6	0	4	4	6	0	1	3	rs780241835		C3N-00704_TP	C3N-00704_NB	C	C																c.1069C>A	p.Leu357Ile	p.L357I	ENST00000329468	1/1	120	95	25	178	178	0	strelka-varscan-mutect	NPAP1,missense_variant,p.Leu357Ile,ENST00000329468,NM_018958.2;	A	ENST00000329468	Transcript	missense_variant	1069/7526	1069/3471	357/1156	L/I	Ctc/Atc	rs780241835	1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2	deleterious(0.04)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15,Pfam_domain:PF15229																	MODERATE	1	SNV				1										PASS		rs780241835	.												A	3	1	63	24676936	24676936	C	A	1	0	0	0	0	1	0	0	0	10609	797	28	2		2	NPAP1	15	24676936	Missense_Mutation	SNP	C	C3N-00704_TP		24676936	77314253	485	20982											
AC124312.1	0	.	GRCh38	chr15	25092136	25092136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagccggtaacccgcctctGtgtggccaggtttgtccttg	4	13	12	12	2	1	0	0	0	1	0	2	0	2	0	5	3	2	2	5	3	2	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.242C>A	p.Thr81Lys	p.T81K	ENST00000623624	1/1	179	138	41	255	255	0	strelka-varscan-mutect	AC124312.1,missense_variant,p.Thr81Lys,ENST00000623624,;RP11-701H24.4,downstream_gene_variant,,ENST00000567527,;SNORD116-22,downstream_gene_variant,,ENST00000384430,;SNORD116-21,downstream_gene_variant,,ENST00000384507,;SNORD116-20,downstream_gene_variant,,ENST00000384529,;SNORD116-24,upstream_gene_variant,,ENST00000384549,;SNORD116-23,downstream_gene_variant,,ENST00000384645,;SNHG14,intron_variant,,ENST00000546682,;SNHG14,intron_variant,,ENST00000549804,;SNHG14,intron_variant,,ENST00000553108,;	T	ENST00000623624	Transcript	missense_variant	242/418	242/417	81/138	T/K	aCa/aAa		1		-1	AC124312.1	Clone_based_ensembl_gene		protein_coding	YES		ENSP00000485422		A0A0B4J2H5	UPI000006F2CD				1/1																			MODERATE		SNV				1										PASS		rs948827199	.												T	3	4	63	25092136	25092136	G	T	1	0	0	0	0	1	0	0	0	141	1377	48	2		2	AC124312.1	15	25092136	Missense_Mutation	SNP	G	C3N-00704_TP	415200	25092136	76899053	486	20983											
GABRB3	0	.	GRCh38	chr15	26547886	26547886	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctatggcattcacatcGgttagatcaggtattttaat	10	16	8	7	1	3	1	2	0	1	1	4	1	3	1	0	3	0	3	0	3	4	6	rs754147659		C3N-00704_TP	C3N-00704_NB	G	G																c.1329C>A	p.=	p.T443T	ENST00000311550	9/9	243	189	54	416	416	0	strelka-varscan-mutect	GABRB3,synonymous_variant,p.=,ENST00000541819,;GABRB3,synonymous_variant,p.=,ENST00000622697,NM_001278631.1;GABRB3,synonymous_variant,p.=,ENST00000311550,NM_000814.5;GABRB3,synonymous_variant,p.=,ENST00000628124,NM_001191320.1;GABRB3,synonymous_variant,p.=,ENST00000636466,;GABRB3,synonymous_variant,p.=,ENST00000299267,NM_021912.4;GABRB3,synonymous_variant,p.=,ENST00000638099,;GABRB3,synonymous_variant,p.=,ENST00000400188,NM_001191321.2;GABRB3,synonymous_variant,p.=,ENST00000545868,;GABRB3,non_coding_transcript_exon_variant,,ENST00000635832,;GABRB3,non_coding_transcript_exon_variant,,ENST00000555094,;GABRB3,downstream_gene_variant,,ENST00000637293,;GABRB3,3_prime_UTR_variant,,ENST00000635994,;GABRB3,3_prime_UTR_variant,,ENST00000555632,;	T	ENST00000311550	Transcript	synonymous_variant	1441/5781	1329/1422	443/473	T	acC/acA	rs754147659	1		-1	GABRB3	HGNC	HGNC:4083	protein_coding	YES	CCDS10019.1	ENSP00000308725	P28472		UPI000012AFB0	NM_000814.5			9/9		hmmpanther:PTHR18945:SF571,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112,Prints_domain:PR01160																	LOW	1	SNV	1			1										PASS		rs754147659	.												T	2	4	63	26547886	26547886	G	T	1	0	0	0	0	0	0	0	1	6039	1103	39	1		1	GABRB3	15	26547886	Silent	SNP	G	C3N-00704_TP	1455750	26547886	75443303	487	20984											
GABRA5	0	.	GRCh38	chr15	26940019	26940019	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcataatgaccgtgatCttatcacaggtgtccttttg	8	14	8	11	1	2	2	1	2	1	0	3	2	3	2	3	1	1	1	3	1	2	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.819C>A	p.=	p.I273I	ENST00000335625	9/11	241	180	61	362	361	1	strelka-varscan-mutect	GABRA5,synonymous_variant,p.=,ENST00000335625,NM_000810.3;GABRA5,synonymous_variant,p.=,ENST00000400081,NM_001165037.1;GABRA5,synonymous_variant,p.=,ENST00000355395,;GABRB3,upstream_gene_variant,,ENST00000541819,;GABRA5,downstream_gene_variant,,ENST00000555182,;	A	ENST00000335625	Transcript	synonymous_variant	1707/3251	819/1389	273/462	I	atC/atA		1		1	GABRA5	HGNC	HGNC:4079	protein_coding	YES	CCDS45194.1	ENSP00000335592	P31644		UPI000002D731	NM_000810.3			9/11		Gene3D:1.20.58.390,Pfam_domain:PF02932,Prints_domain:PR00253,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	63	26940019	26940019	C	A	1	0	0	0	0	0	0	0	1	6035	903	32	2		2	GABRA5	15	26940019	Silent	SNP	C	C3N-00704_TP	392133	26940019	75051170	488	20985											
OTUD7A	0	.	GRCh38	chr15	31483952	31483952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgggcccggagaggcgCgctccgggaccggcacgccc	4	3	19	15	6	0	1	0	0	0	1	1	3	1	2	4	6	0	2	4	6	0	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2123G>T	p.Arg708Leu	p.R708L	ENST00000307050	11/11	33	24	9	33	33	0	strelka-varscan-mutect	OTUD7A,missense_variant,p.Arg708Leu,ENST00000307050,NM_130901.1;	A	ENST00000307050	Transcript	missense_variant	2216/10770	2123/2781	708/926	R/L	cGc/cTc		1		-1	OTUD7A	HGNC	HGNC:20718	protein_coding	YES	CCDS10026.1	ENSP00000305926	Q8TE49		UPI0000073AA5	NM_130901.1	tolerated_low_confidence(0.32)		11/11		hmmpanther:PTHR13367:SF9,hmmpanther:PTHR13367																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	31483952	31483952	C	A	1	0	0	0	0	1	0	0	0	11387	768	27	1		1	OTUD7A	15	31483952	Missense_Mutation	SNP	C	C3N-00704_TP	4543933	31483952	70507237	489	20986											
RYR3	0	.	GRCh38	chr15	33810581	33810582	+	Frame_Shift_Ins	INS	-	-	T																															actcaagaaaatgctgcccaINSttggtttgaatatgtgtact																								novel		C3N-00704_TP	C3N-00704_NB	-	-																c.10131dupT	p.Gly3378TrpfsTer23	p.G3378Wfs*23	ENST00000634891	71/104	198	161	37	362	362	0	sindel-varindel-pindel	RYR3,frameshift_variant,p.Gly3378TrpfsTer23,ENST00000634891,NM_001036.4;RYR3,frameshift_variant,p.Gly3378TrpfsTer23,ENST00000622037,;RYR3,frameshift_variant,p.Gly3373TrpfsTer23,ENST00000415757,NM_001243996.2;RYR3,frameshift_variant,p.Gly3377TrpfsTer23,ENST00000389232,;RYR3,frameshift_variant,p.Gly3372TrpfsTer23,ENST00000634418,;RYR3,upstream_gene_variant,,ENST00000638085,;RYR3,upstream_gene_variant,,ENST00000637201,;RYR3,upstream_gene_variant,,ENST00000638038,;RYR3,3_prime_UTR_variant,,ENST00000635790,;	T	ENST00000634891	Transcript	frameshift_variant	10230-10231/15591	10129-10130/14613	3377/4870	I/IX	att/aTtt		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4			71/104		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16																	HIGH	1	insertion	1	2		1										PASS		.	.												T	7	5	63	33810581	33810581	-	T	1	0	1	1	0	0	0	0	0	14030	217	8	0		0	RYR3	15	33810581	Frame_Shift_Ins	INS	-	C3N-00704_TP	2326629	33810581	68180608	490	20987											
MGA	0	.	GRCh38	chr15	41742699	41742699	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtaatggtcgtcacacCtgtggtttcttctgagccag	7	13	10	11	1	3	1	1	1	2	0	5	1	4	1	3	2	1	2	3	2	1	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.4739C>G	p.Pro1580Arg	p.P1580R	ENST00000219905	15/24	195	152	43	244	244	0	strelka-varscan-mutect	MGA,missense_variant,p.Pro1580Arg,ENST00000219905,NM_001164273.1;MGA,missense_variant,p.Pro1580Arg,ENST00000570161,;MGA,missense_variant,p.Pro228Arg,ENST00000564190,;MGA,intron_variant,,ENST00000566586,;MGA,intron_variant,,ENST00000545763,NM_001080541.2;	G	ENST00000219905	Transcript	missense_variant	4920/12042	4739/9198	1580/3065	P/R	cCt/cGt		1		1	MGA	HGNC	HGNC:14010	protein_coding	YES	CCDS55959.1	ENSP00000219905	Q8IWI9		UPI0001B2337E	NM_001164273.1	deleterious(0)		15/24		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	63	41742699	41742699	C	G	1	0	0	0	0	1	0	0	0	9498	681	24	4		4	MGA	15	41742699	Missense_Mutation	SNP	C	C3N-00704_TP	7932118	41742699	60248490	491	20988											
ATP8B4	0	.	GRCh38	chr15	49931132	49931132	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	accatacctatgacagacatCctttttctggtgttgttgaa	10	15	7	9	0	1	3	0	2	1	1	2	3	2	3	3	1	1	2	3	1	3	6	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1629G>C	p.Arg543Ser	p.R543S	ENST00000284509	16/28	50	39	11	55	55	0	strelka-varscan-mutect	ATP8B4,missense_variant,p.Arg543Ser,ENST00000284509,NM_024837.3;ATP8B4,missense_variant,p.Arg543Ser,ENST00000559829,;ATP8B4,missense_variant,p.Arg543Ser,ENST00000557955,;ATP8B4,missense_variant,p.Arg35Ser,ENST00000558458,;ATP8B4,3_prime_UTR_variant,,ENST00000559726,;ATP8B4,intron_variant,,ENST00000558906,;	G	ENST00000284509	Transcript	missense_variant	1771/5676	1629/3579	543/1192	R/S	agG/agC		1		-1	ATP8B4	HGNC	HGNC:13536	protein_coding	YES	CCDS32238.1	ENSP00000284509	Q8TF62		UPI0000055904	NM_024837.3	deleterious(0)		16/28		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF80,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01652,Pfam_domain:PF13246,Superfamily_domains:SSF81660																	MODERATE	1	SNV	5			1										PASS		rs1013618309	.												G	3	3	63	49931132	49931132	C	G	1	0	0	0	0	1	0	0	0	1350	854	30	4		4	ATP8B4	15	49931132	Missense_Mutation	SNP	C	C3N-00704_TP	8188433	49931132	52060057	492	20989											
AQP9	0	.	GRCh38	chr15	58138625	58138625	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagactggtcttgaagagCagcttagcgaaagaaaccct	14	7	11	9	1	1	4	0	1	1	3	1	6	1	4	1	1	4	2	1	1	4	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.60C>T	p.=	p.S20S	ENST00000219919	1/6	159	132	27	238	238	0	strelka-varscan-mutect	AQP9,synonymous_variant,p.=,ENST00000219919,NM_020980.3;AQP9,synonymous_variant,p.=,ENST00000536493,;ALDH1A2,5_prime_UTR_variant,,ENST00000557967,;ALDH1A2,intron_variant,,ENST00000558231,;AQP9,intron_variant,,ENST00000558772,;ALDH1A2,intron_variant,,ENST00000558239,;AQP9,non_coding_transcript_exon_variant,,ENST00000559443,;ALDH1A2,intron_variant,,ENST00000560863,;ALDH1A2,intron_variant,,ENST00000558073,;ALDH1A2,intron_variant,,ENST00000560122,;ALDH1A2,intron_variant,,ENST00000559297,;ALDH1A2,intron_variant,,ENST00000558504,;	T	ENST00000219919	Transcript	synonymous_variant	430/3034	60/888	20/295	S	agC/agT		1		1	AQP9	HGNC	HGNC:643	protein_coding	YES	CCDS10165.1	ENSP00000219919	O43315		UPI000013C796	NM_020980.3			1/6		hmmpanther:PTHR19139:SF149,hmmpanther:PTHR19139,Gene3D:1.20.1080.10,Pfam_domain:PF00230,Prints_domain:PR02021																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	63	58138625	58138625	C	T	1	0	0	0	0	0	0	0	1	956	709	25	3		3	AQP9	15	58138625	Silent	SNP	C	C3N-00704_TP	8207493	58138625	43852564	493	20990											
C15orf61	0	.	GRCh38	chr15	67521303	67521303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccgcctgctgctgtgtaggCcgtgggcctcgcgcgccgcc	1	8	15	17	6	0	0	0	0	0	0	2	0	1	0	6	2	2	3	6	2	1	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.55C>T	p.Pro19Ser	p.P19S	ENST00000342683	1/2	60	56	4	92	92	0	varscan-mutect	C15orf61,missense_variant,p.Pro19Ser,ENST00000342683,NM_001143936.1;C15orf61,upstream_gene_variant,,ENST00000557807,;IQCH-AS1,intron_variant,,ENST00000559298,;IQCH-AS1,intron_variant,,ENST00000561232,;IQCH-AS1,upstream_gene_variant,,ENST00000559285,;IQCH-AS1,upstream_gene_variant,,ENST00000559702,;C15orf61,upstream_gene_variant,,ENST00000560041,;C15orf61,upstream_gene_variant,,ENST00000560547,;	T	ENST00000342683	Transcript	missense_variant	236/4253	55/474	19/157	P/S	Ccg/Tcg		1		1	C15orf61	HGNC	HGNC:34453	protein_coding	YES	CCDS45289.1	ENSP00000342254	A6NNL5		UPI0000039EE4	NM_001143936.1	tolerated_low_confidence(0.3)		1/2		hmmpanther:PTHR34651,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	67521303	67521303	C	T	1	0	0	0	0	1	0	0	0	1851	739	26	3		3	C15orf61	15	67521303	Missense_Mutation	SNP	C	C3N-00704_TP	9382678	67521303	34469886	494	20991											
UACA	0	.	GRCh38	chr15	70668678	70668678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttaacattctcaagttctCtctttaactgtctaatttca	10	18	2	11	0	5	0	2	0	4	0	7	0	5	0	1	0	2	1	1	0	4	7	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2006G>A	p.Arg669Lys	p.R669K	ENST00000322954	16/19	205	153	52	320	320	0	strelka-varscan-mutect	UACA,missense_variant,p.Arg669Lys,ENST00000322954,NM_018003.2;UACA,missense_variant,p.Arg656Lys,ENST00000379983,NM_001008224.1;UACA,missense_variant,p.Arg654Lys,ENST00000560441,;UACA,missense_variant,p.Arg560Lys,ENST00000539319,;UACA,downstream_gene_variant,,ENST00000558758,;UACA,upstream_gene_variant,,ENST00000560831,;UACA,downstream_gene_variant,,ENST00000559290,;UACA,downstream_gene_variant,,ENST00000560523,;UACA,downstream_gene_variant,,ENST00000558308,;	T	ENST00000322954	Transcript	missense_variant	2192/6939	2006/4251	669/1416	R/K	aGa/aAa		1		-1	UACA	HGNC	HGNC:15947	protein_coding	YES	CCDS10235.1	ENSP00000314556	Q9BZF9		UPI000006DCF3	NM_018003.2	tolerated(0.12)		16/19		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF23																	MODERATE	1	SNV	1			1										PASS		rs1217943474	.												T	3	4	63	70668678	70668678	C	T	1	0	0	0	0	1	0	0	0	17343	913	32	3		3	UACA	15	70668678	Missense_Mutation	SNP	C	C3N-00704_TP	3147375	70668678	31322511	495	20992											
CELF6	0	.	GRCh38	chr15	72289637	72289637	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtacctaccgccgtggtgTaggcgccgcaggcccctagc	5	6	14	16	5	0	0	0	0	0	0	0	0	0	0	6	4	3	3	6	4	4	4	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.737A>T	p.Tyr246Phe	p.Y246F	ENST00000287202	6/13	67	51	16	109	109	0	strelka-varscan-mutect	CELF6,missense_variant,p.Tyr246Phe,ENST00000287202,NM_052840.4;CELF6,missense_variant,p.Tyr133Phe,ENST00000395258,;CELF6,missense_variant,p.Tyr131Phe,ENST00000543764,NM_001172685.1;CELF6,missense_variant,p.Tyr246Phe,ENST00000567083,NM_001172684.1;RP11-106M3.3,intron_variant,,ENST00000570175,;RP11-106M3.5,missense_variant,p.Tyr246Phe,ENST00000569547,;RP11-106M3.2,3_prime_UTR_variant,,ENST00000379915,;CELF6,3_prime_UTR_variant,,ENST00000437872,;	A	ENST00000287202	Transcript	missense_variant	992/3345	737/1446	246/481	Y/F	tAc/tTc		1		-1	CELF6	HGNC	HGNC:14059	protein_coding	YES	CCDS10242.1	ENSP00000287202	Q96J87		UPI000006F0AA	NM_052840.4	tolerated(0.1)		6/13																			MODERATE	1	SNV	1			1										PASS		rs1453964755	.												A	3	1	63	72289637	72289637	T	A	1	0	0	0	0	1	0	0	0	2927	1638	57	4		4	CELF6	15	72289637	Missense_Mutation	SNP	T	C3N-00704_TP	1620959	72289637	29701552	496	20993											
CLK3	0	.	GRCh38	chr15	74624984	74624984	+	Frame_Shift_Del	DEL	A	A	-																															ggctagaaatcaacgtgctcAaaaaaatcaaggagaaggac																										C3N-00704_TP	C3N-00704_NB	A	A																c.1066delA	p.Ile356SerfsTer14	p.I356Sfs*14	ENST00000395066	6/13	108	88	20	138	138	0	sindel-pindel	CLK3,frameshift_variant,p.Ile356SerfsTer14,ENST00000395066,NM_001130028.1;CLK3,frameshift_variant,p.Ile208SerfsTer14,ENST00000345005,NM_003992.4;CLK3,frameshift_variant,p.Ile242SerfsTer14,ENST00000568139,;CLK3,frameshift_variant,p.Ile208SerfsTer14,ENST00000564096,;CLK3,frameshift_variant,p.Ile208SerfsTer14,ENST00000566126,;CLK3,5_prime_UTR_variant,,ENST00000563842,;CLK3,5_prime_UTR_variant,,ENST00000563297,;CLK3,upstream_gene_variant,,ENST00000563418,;CLK3,upstream_gene_variant,,ENST00000566926,;CLK3,downstream_gene_variant,,ENST00000562389,;CLK3,downstream_gene_variant,,ENST00000562670,;CLK3,downstream_gene_variant,,ENST00000568488,;CLK3,upstream_gene_variant,,ENST00000561673,;CLK3,upstream_gene_variant,,ENST00000567805,;CLK3,3_prime_UTR_variant,,ENST00000483723,;CLK3,3_prime_UTR_variant,,ENST00000569063,;CLK3,non_coding_transcript_exon_variant,,ENST00000454830,;CLK3,non_coding_transcript_exon_variant,,ENST00000569406,;CLK3,non_coding_transcript_exon_variant,,ENST00000562078,;CLK3,non_coding_transcript_exon_variant,,ENST00000568605,;CLK3,upstream_gene_variant,,ENST00000568232,;CLK3,upstream_gene_variant,,ENST00000564468,;CLK3,downstream_gene_variant,,ENST00000570296,;CLK3,upstream_gene_variant,,ENST00000562626,;CLK3,downstream_gene_variant,,ENST00000563112,;	-	ENST00000395066	Transcript	frameshift_variant	1521/2621	1060/1917	354/638	K/X	Aaa/aa	COSM4747483,COSM4747484	1		1	CLK3	HGNC	HGNC:2071	protein_coding	YES	CCDS45304.1	ENSP00000378505	P49761		UPI0001529A1B	NM_001130028.1			6/13		Low_complexity_(Seg):seg,PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF3,hmmpanther:PTHR24058,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112											1,1						HIGH	1	deletion	1	6	1,1	1										PASS		.	.												-	7	5	63	74624984	74624984	A	-	1	0	1	0	1	0	0	0	0	3307	131	5	0		0	CLK3	15	74624984	Frame_Shift_Del	DEL	A	C3N-00704_TP	2335347	74624984	27366205	497	20994											
RAB40C	0	.	GRCh38	chr16	626045	626045	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctgtgcaacttcaacgtCatcgagtccttcacggagct	8	10	8	15	3	3	0	3	0	0	0	5	2	4	1	3	1	4	2	3	1	2	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.489C>T	p.=	p.V163V	ENST00000535977	6/7	343	299	44	392	392	0	strelka-varscan-mutect	RAB40C,synonymous_variant,p.=,ENST00000535977,NM_001172663.1;RAB40C,synonymous_variant,p.=,ENST00000248139,NM_021168.4;RAB40C,synonymous_variant,p.=,ENST00000539661,NM_001172664.1;RAB40C,synonymous_variant,p.=,ENST00000538492,NM_001172665.1,NM_001172666.1;RAB40C,synonymous_variant,p.=,ENST00000564703,;RAB40C,synonymous_variant,p.=,ENST00000566290,;RAB40C,synonymous_variant,p.=,ENST00000563109,;RAB40C,synonymous_variant,p.=,ENST00000568586,;WFIKKN1,upstream_gene_variant,,ENST00000319070,NM_053284.2;RAB40C,downstream_gene_variant,,ENST00000569575,;RAB40C,3_prime_UTR_variant,,ENST00000565511,;RAB40C,non_coding_transcript_exon_variant,,ENST00000561781,;WFIKKN1,upstream_gene_variant,,ENST00000573440,;RAB40C,downstream_gene_variant,,ENST00000509637,;	T	ENST00000535977	Transcript	synonymous_variant	711/2717	489/846	163/281	V	gtC/gtT		1		1	RAB40C	HGNC	HGNC:18285	protein_coding	YES	CCDS10413.1	ENSP00000438492	Q96S21		UPI0000133002	NM_001172663.1			6/7		PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF365,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449																	LOW		SNV	5			1										PASS		.	.												T	2	4	63	626045	626045	C	T	1	0	0	0	0	0	0	0	1	13101	813	29	3		3	RAB40C	16	626045	Silent	SNP	C	C3N-00704_TP		626045	89712300	498	20995											
WDR24	0	.	GRCh38	chr16	689505	689505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagatcttgaagatgctacGgcctgccacgaccacctggg	10	8	11	12	2	1	3	0	1	1	2	1	4	1	3	4	2	3	1	4	2	3	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.136C>A	p.Arg46Ser	p.R46S	ENST00000293883	1/9	395	334	61	469	467	2	strelka-varscan-mutect	WDR24,missense_variant,p.Arg46Ser,ENST00000293883,NM_032259.3;WDR24,missense_variant,p.Arg108Ser,ENST00000248142,;FBXL16,downstream_gene_variant,,ENST00000397621,NM_153350.3;FBXL16,downstream_gene_variant,,ENST00000324361,;FBXL16,downstream_gene_variant,,ENST00000562563,;LA16c-313D11.12,non_coding_transcript_exon_variant,,ENST00000566927,;LA16c-313D11.12,non_coding_transcript_exon_variant,,ENST00000575305,;FBXL16,downstream_gene_variant,,ENST00000562648,;JMJD8,upstream_gene_variant,,ENST00000567120,;WDR24,upstream_gene_variant,,ENST00000567014,;	T	ENST00000293883	Transcript	missense_variant	896/3245	136/2373	46/790	R/S	Cgt/Agt		1		-1	WDR24	HGNC	HGNC:20852	protein_coding	YES	CCDS10420.1	ENSP00000293883	Q96S15		UPI0000037D32	NM_032259.3	deleterious(0)		1/9		hmmpanther:PTHR22850:SF131,hmmpanther:PTHR22850,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	689505	689505	G	T	1	0	0	0	0	1	0	0	0	17841	1116	39	1		1	WDR24	16	689505	Missense_Mutation	SNP	G	C3N-00704_TP	63460	689505	89648840	499	20996											
CHTF18	0	.	GRCh38	chr16	796780	796780	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aagcccctcacctaccagacGaagcagctcatcgcccgcga	11	4	8	18	4	2	1	2	0	0	1	3	3	2	1	5	0	4	2	5	0	3	1	rs374658777		C3N-00704_TP	C3N-00704_NB	G	G																c.2520G>C	p.=	p.T840T	ENST00000262315	19/22	219	181	38	242	242	0	strelka-varscan-mutect	CHTF18,synonymous_variant,p.=,ENST00000631357,;CHTF18,synonymous_variant,p.=,ENST00000455171,;CHTF18,synonymous_variant,p.=,ENST00000262315,NM_022092.2;CHTF18,synonymous_variant,p.=,ENST00000317063,;GNG13,downstream_gene_variant,,ENST00000248150,NM_016541.2;CHTF18,downstream_gene_variant,,ENST00000461268,;CHTF18,downstream_gene_variant,,ENST00000493715,;CHTF18,upstream_gene_variant,,ENST00000564940,;CHTF18,non_coding_transcript_exon_variant,,ENST00000471202,;CHTF18,non_coding_transcript_exon_variant,,ENST00000464728,;CHTF18,non_coding_transcript_exon_variant,,ENST00000498439,;CHTF18,downstream_gene_variant,,ENST00000440239,;CHTF18,downstream_gene_variant,,ENST00000569270,;CHTF18,downstream_gene_variant,,ENST00000567620,;CHTF18,downstream_gene_variant,,ENST00000565787,;	C	ENST00000262315	Transcript	synonymous_variant	2583/3090	2520/2928	840/975	T	acG/acC	rs374658777,COSM974413	1		1	CHTF18	HGNC	HGNC:18435	protein_coding	YES	CCDS45371.1	ENSP00000262315	Q8WVB6		UPI00000710D2	NM_022092.2			19/22		hmmpanther:PTHR23389:SF3,hmmpanther:PTHR23389											0,1						LOW	1	SNV	1		0,1	1										PASS		rs374658777	.												C	2	2	63	796780	796780	G	C	1	0	0	0	0	0	0	0	1	3174	1045	37	4		4	CHTF18	16	796780	Silent	SNP	G	C3N-00704_TP	107275	796780	89541565	500	20997											
TPSB2	0	.	GRCh38	chr16	1229719	1229719	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaacgatgcccactcgcTgcagggcctggcctggggct	5	6	13	17	2	0	0	0	0	0	0	1	1	0	0	5	4	3	3	5	4	1	0	rs755831769		C3N-00704_TP	C3N-00704_NB	T	T																c.80A>T	p.Gln27Leu	p.Q27L	ENST00000606293	3/6	77	69	8	77	77	0	varscan-mutect	TPSB2,missense_variant,p.Gln34Leu,ENST00000612142,;TPSB2,missense_variant,p.Gln27Leu,ENST00000606293,NM_024164.5;TPSG1,upstream_gene_variant,,ENST00000234798,NM_012467.3;TPSB2,missense_variant,p.Gln27Leu,ENST00000611196,;TPSG1,upstream_gene_variant,,ENST00000564684,;	A	ENST00000606293	Transcript	missense_variant	103/1165	80/828	27/275	Q/L	cAg/cTg	rs755831769	1		-1	TPSB2	HGNC	HGNC:14120	protein_coding	YES		ENSP00000482743	P20231	A0A140VJT7	UPI0000169899	NM_024164.5	deleterious(0.02)		3/6		hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF178,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs755831769	.												A	3	1	63	1229719	1229719	T	A	1	0	0	0	0	1	0	0	0	16905	1580	55	4		4	TPSB2	16	1229719	Missense_Mutation	SNP	T	C3N-00704_TP	432939	1229719	89108626	501	20998											
SLC9A3R2	0	.	GRCh38	chr16	2037830	2037830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accgtgctcaccccaggatgGcagtgcctggaagcaagatc	10	6	12	13	1	1	1	1	0	0	1	2	3	1	3	4	3	3	3	4	3	2	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.860G>A	p.Gly287Asp	p.G287D	ENST00000424542	7/7	113	92	21	128	128	0	strelka-varscan-mutect	SLC9A3R2,missense_variant,p.Gly287Asp,ENST00000424542,NM_001130012.2;SLC9A3R2,missense_variant,p.Gly176Asp,ENST00000566198,NM_001252073.1,NM_001252076.1;SLC9A3R2,missense_variant,p.Gly181Asp,ENST00000563587,;SLC9A3R2,missense_variant,p.Gly174Asp,ENST00000565855,NM_001252075.1;SLC9A3R2,3_prime_UTR_variant,,ENST00000561844,;SLC9A3R2,intron_variant,,ENST00000432365,NM_004785.5;NTHL1,downstream_gene_variant,,ENST00000219066,NM_002528.5;NTHL1,downstream_gene_variant,,ENST00000566380,;SLC9A3R2,downstream_gene_variant,,ENST00000567504,;SLC9A3R2,downstream_gene_variant,,ENST00000565086,;NTHL1,downstream_gene_variant,,ENST00000562951,;SLC9A3R2,non_coding_transcript_exon_variant,,ENST00000564033,;NTHL1,downstream_gene_variant,,ENST00000561841,;NTHL1,downstream_gene_variant,,ENST00000568513,;NTHL1,downstream_gene_variant,,ENST00000565406,;NTHL1,downstream_gene_variant,,ENST00000567727,;NTHL1,downstream_gene_variant,,ENST00000561862,;	A	ENST00000424542	Transcript	missense_variant	998/2194	860/1014	287/337	G/D	gGc/gAc		1		1	SLC9A3R2	HGNC	HGNC:11076	protein_coding	YES	CCDS45382.1	ENSP00000408005	Q15599		UPI0000070578	NM_001130012.2	tolerated(0.51)		7/7		hmmpanther:PTHR14191:SF4,hmmpanther:PTHR14191,PIRSF_domain:PIRSF037866,Pfam_domain:PF09007																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	2037830	2037830	G	A	1	0	0	0	0	1	0	0	0	14997	1217	42	3		3	SLC9A3R2	16	2037830	Missense_Mutation	SNP	G	C3N-00704_TP	808111	2037830	88300515	502	20999											
IL32	0	.	GRCh38	chr16	3069213	3069213	+	Missense_Mutation	SNP	A	A	T																															ggccctggtccatgcagtgcAggccctctggaaacagttcc																								novel		C3N-00704_TP	C3N-00704_NB	A	A																c.563A>T	p.Gln188Leu	p.Q188L	ENST00000534507	6/6	418	379	39	555	554	1	varscan-mutect	IL32,missense_variant,p.Gln142Leu,ENST00000525643,;IL32,missense_variant,p.Gln142Leu,ENST00000526464,;IL32,missense_variant,p.Gln188Leu,ENST00000534507,;IL32,missense_variant,p.Gln142Leu,ENST00000325568,NM_001012718.1,NM_004221.4;IL32,missense_variant,p.Gln188Leu,ENST00000396890,;IL32,missense_variant,p.Gln122Leu,ENST00000008180,NM_001012634.1;IL32,missense_variant,p.Gln122Leu,ENST00000613483,;IL32,missense_variant,p.Gln188Leu,ENST00000548476,;IL32,missense_variant,p.Gln142Leu,ENST00000528163,NM_001012631.1;IL32,missense_variant,p.Gln142Leu,ENST00000440815,;IL32,missense_variant,p.Gln142Leu,ENST00000444393,;IL32,missense_variant,p.Gln133Leu,ENST00000382213,NM_001012636.1;IL32,missense_variant,p.Gln142Leu,ENST00000533097,;IL32,missense_variant,p.Gln133Leu,ENST00000548652,;IL32,missense_variant,p.Gln188Leu,ENST00000548807,;IL32,missense_variant,p.Gln179Leu,ENST00000551513,;IL32,missense_variant,p.Gln122Leu,ENST00000530890,NM_001012635.1;IL32,missense_variant,p.Gln142Leu,ENST00000529550,;IL32,missense_variant,p.Gln132Leu,ENST00000531965,;IL32,missense_variant,p.Gln142Leu,ENST00000552664,NM_001012632.1;IL32,missense_variant,p.Gln166Leu,ENST00000552936,;IL32,missense_variant,p.Gln142Leu,ENST00000530538,;IL32,missense_variant,p.Gln122Leu,ENST00000529699,;IL32,missense_variant,p.Gln122Leu,ENST00000552356,;IL32,missense_variant,p.Gln113Leu,ENST00000525228,;IL32,missense_variant,p.Gln102Leu,ENST00000548246,;IL32,intron_variant,,ENST00000525377,;IL32,intron_variant,,ENST00000396887,NM_001012633.1;IL32,intron_variant,,ENST00000551122,;IL32,intron_variant,,ENST00000549213,;RNU1-125P,upstream_gene_variant,,ENST00000516752,;IL32,non_coding_transcript_exon_variant,,ENST00000525003,;IL32,intron_variant,,ENST00000528652,;IL32,downstream_gene_variant,,ENST00000532247,;IL32,downstream_gene_variant,,ENST00000532086,;IL32,downstream_gene_variant,,ENST00000534748,;	T	ENST00000534507	Transcript	missense_variant	774/1112	563/705	188/234	Q/L	cAg/cTg		1		1	IL32	HGNC	HGNC:16830	protein_coding	YES	CCDS76811.1	ENSP00000431775	P24001		UPI0000070836		deleterious(0.01)		6/6		Pfam_domain:PF15225																	MODERATE	1	SNV	2			1										PASS		rs779733588	.												T	3	4	63	3069213	3069213	A	T	1	0	0	0	0	1	0	0	0	7591	188	7	4		4	IL32	16	3069213	Missense_Mutation	SNP	A	C3N-00704_TP	1031383	3069213	87269132	503	21000	445	2									
IL32	0	.	GRCh38	chr16	3069215	3069215	+	Missense_Mutation	SNP	G	G	A																															ccctggtccatgcagtgcagGccctctggaaacagttccag																								novel		C3N-00704_TP	C3N-00704_NB	G	G																c.565G>A	p.Ala189Thr	p.A189T	ENST00000534507	6/6	422	382	40	560	559	1	varscan-mutect	IL32,missense_variant,p.Ala143Thr,ENST00000525643,;IL32,missense_variant,p.Ala143Thr,ENST00000526464,;IL32,missense_variant,p.Ala189Thr,ENST00000534507,;IL32,missense_variant,p.Ala143Thr,ENST00000325568,NM_001012718.1,NM_004221.4;IL32,missense_variant,p.Ala189Thr,ENST00000396890,;IL32,missense_variant,p.Ala123Thr,ENST00000008180,NM_001012634.1;IL32,missense_variant,p.Ala123Thr,ENST00000613483,;IL32,missense_variant,p.Ala189Thr,ENST00000548476,;IL32,missense_variant,p.Ala143Thr,ENST00000528163,NM_001012631.1;IL32,missense_variant,p.Ala143Thr,ENST00000440815,;IL32,missense_variant,p.Ala143Thr,ENST00000444393,;IL32,missense_variant,p.Ala134Thr,ENST00000382213,NM_001012636.1;IL32,missense_variant,p.Ala143Thr,ENST00000533097,;IL32,missense_variant,p.Ala134Thr,ENST00000548652,;IL32,missense_variant,p.Ala189Thr,ENST00000548807,;IL32,missense_variant,p.Ala180Thr,ENST00000551513,;IL32,missense_variant,p.Ala123Thr,ENST00000530890,NM_001012635.1;IL32,missense_variant,p.Ala143Thr,ENST00000529550,;IL32,missense_variant,p.Ala133Thr,ENST00000531965,;IL32,missense_variant,p.Ala143Thr,ENST00000552664,NM_001012632.1;IL32,missense_variant,p.Ala167Thr,ENST00000552936,;IL32,missense_variant,p.Ala143Thr,ENST00000530538,;IL32,missense_variant,p.Ala123Thr,ENST00000529699,;IL32,missense_variant,p.Ala123Thr,ENST00000552356,;IL32,missense_variant,p.Ala114Thr,ENST00000525228,;IL32,missense_variant,p.Ala103Thr,ENST00000548246,;IL32,intron_variant,,ENST00000525377,;IL32,intron_variant,,ENST00000396887,NM_001012633.1;IL32,intron_variant,,ENST00000551122,;IL32,intron_variant,,ENST00000549213,;RNU1-125P,upstream_gene_variant,,ENST00000516752,;IL32,non_coding_transcript_exon_variant,,ENST00000525003,;IL32,intron_variant,,ENST00000528652,;IL32,downstream_gene_variant,,ENST00000532247,;IL32,downstream_gene_variant,,ENST00000532086,;IL32,downstream_gene_variant,,ENST00000534748,;	A	ENST00000534507	Transcript	missense_variant	776/1112	565/705	189/234	A/T	Gcc/Acc		1		1	IL32	HGNC	HGNC:16830	protein_coding	YES	CCDS76811.1	ENSP00000431775	P24001		UPI0000070836		tolerated(0.34)		6/6		Pfam_domain:PF15225																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	63	3069215	3069215	G	A	1	0	0	0	0	1	0	0	0	7591	1203	42	3		3	IL32	16	3069215	Missense_Mutation	SNP	G	C3N-00704_TP	2	3069215	87269130	504	21001	445	2									
SLX4	0	.	GRCh38	chr16	3597992	3597992	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagacctctactgtgatCactgaagctagaaaacagcc	13	10	7	11	0	3	4	2	2	1	2	3	4	3	4	2	0	4	1	2	0	5	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1171G>T	p.Asp391Tyr	p.D391Y	ENST00000294008	6/15	556	468	88	691	691	0	strelka-varscan-mutect	SLX4,missense_variant,p.Asp391Tyr,ENST00000294008,NM_032444.2;SLX4,non_coding_transcript_exon_variant,,ENST00000466154,;SLX4,downstream_gene_variant,,ENST00000486524,;	A	ENST00000294008	Transcript	missense_variant	1812/7307	1171/5505	391/1834	D/Y	Gat/Tat		1		-1	SLX4	HGNC	HGNC:23845	protein_coding	YES	CCDS10506.2	ENSP00000294008	Q8IY92		UPI000050D2C5	NM_032444.2	deleterious(0.01)		6/15		hmmpanther:PTHR21541,hmmpanther:PTHR21541:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	63	3597992	3597992	C	A	1	0	0	0	0	1	0	0	0	15048	826	29	2		2	SLX4	16	3597992	Missense_Mutation	SNP	C	C3N-00704_TP	528777	3597992	86740353	505	21002											
USP7	0	.	GRCh38	chr16	8963274	8963274	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctgctgctgctgctgCtggtggttcatgtcggccgc	1	14	14	12	2	2	0	1	0	1	0	3	0	2	0	1	3	6	7	1	3	0	2	rs750093857		C3N-00704_TP	C3N-00704_NB	C	C																c.12G>C	p.Gln4His	p.Q4H	ENST00000344836	1/31	129	122	7	142	140	2	strelka-mutect	USP7,missense_variant,p.Gln4His,ENST00000344836,NM_001321858.1,NM_003470.2;USP7,intron_variant,,ENST00000569230,;USP7,upstream_gene_variant,,ENST00000566273,;RP11-77H9.8,intron_variant,,ENST00000564485,;USP7,missense_variant,p.Gln4His,ENST00000563961,;	G	ENST00000344836	Transcript	missense_variant	211/5412	12/3309	4/1102	Q/H	caG/caC	rs750093857,COSM1380634	1		-1	USP7	HGNC	HGNC:12630	protein_coding	YES	CCDS32385.1	ENSP00000343535	Q93009		UPI000013F0BE	NM_001321858.1,NM_003470.2	tolerated_low_confidence(0.56)		1/31		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs750093857	.												G	3	3	63	8963274	8963274	C	G	1	0	0	0	0	1	0	0	0	17631	796	28	4		4	USP7	16	8963274	Missense_Mutation	SNP	C	C3N-00704_TP	5365282	8963274	81375071	506	21003											
PDXDC1	0	.	GRCh38	chr16	15032907	15032907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagtttgaaatcagatcccGaaggggaaaacatccatgct	14	8	10	9	1	1	2	1	1	0	1	3	4	3	3	2	2	2	3	2	2	4	1	rs141392697		C3N-00704_TP	C3N-00704_NB	G	G																c.1618G>A	p.Glu540Lys	p.E540K	ENST00000396410	18/23	155	137	18	233	232	1	strelka-varscan-mutect	PDXDC1,missense_variant,p.Glu540Lys,ENST00000396410,NM_001324019.1,NM_015027.3;PDXDC1,missense_variant,p.Glu449Lys,ENST00000450288,NM_001285448.1;PDXDC1,missense_variant,p.Glu513Lys,ENST00000569715,NM_001285444.1;PDXDC1,missense_variant,p.Glu558Lys,ENST00000563679,NM_001285447.1;PDXDC1,missense_variant,p.Glu512Lys,ENST00000627450,NM_001285445.1;PDXDC1,intron_variant,,ENST00000535621,NM_001324020.1,NM_001285449.1;PDXDC1,downstream_gene_variant,,ENST00000455313,NM_001285450.1;NTAN1,downstream_gene_variant,,ENST00000287706,NM_173474.3;NTAN1,downstream_gene_variant,,ENST00000624579,NM_001270766.1;NTAN1,downstream_gene_variant,,ENST00000622833,NM_001270767.1;PDXDC1,non_coding_transcript_exon_variant,,ENST00000570001,;PDXDC1,intron_variant,,ENST00000562119,;PDXDC1,downstream_gene_variant,,ENST00000566633,;NTAN1,downstream_gene_variant,,ENST00000566542,;NTAN1,downstream_gene_variant,,ENST00000565187,;PDXDC1,upstream_gene_variant,,ENST00000565986,;	A	ENST00000396410	Transcript	missense_variant	1715/4521	1618/2367	540/788	E/K	Gaa/Aaa	rs141392697,COSM967316	1		1	PDXDC1	HGNC	HGNC:28995	protein_coding	YES	CCDS32393.1	ENSP00000379691	Q6P996		UPI000004A864	NM_001324019.1,NM_015027.3	deleterious(0.01)		18/23													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs141392697	.												A	3	1	63	15032907	15032907	G	A	1	0	0	0	0	1	0	0	0	11784	1059	37	1		1	PDXDC1	16	15032907	Missense_Mutation	SNP	G	C3N-00704_TP	6069633	15032907	75305438	507	21004											
XYLT1	0	.	GRCh38	chr16	17141276	17141276	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtccgaaccgccatccacGgcaatgccctctgggatccg	8	6	10	17	4	1	0	0	0	1	0	4	2	4	1	6	2	2	1	6	2	2	0	rs143737358		C3N-00704_TP	C3N-00704_NB	G	G																c.1464C>A	p.=	p.A488A	ENST00000261381	7/12	242	199	43	237	237	0	strelka-varscan-mutect	XYLT1,synonymous_variant,p.=,ENST00000261381,NM_022166.3;CTD-2576D5.4,downstream_gene_variant,,ENST00000567344,;	T	ENST00000261381	Transcript	synonymous_variant	1549/9891	1464/2880	488/959	A	gcC/gcA	rs143737358	1		-1	XYLT1	HGNC	HGNC:15516	protein_coding	YES	CCDS10569.1	ENSP00000261381	Q86Y38		UPI000000DCCE	NM_022166.3			7/12		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF91,Pfam_domain:PF02485																	LOW	1	SNV	1			1										PASS		rs143737358	.												T	2	4	63	17141276	17141276	G	T	1	0	0	0	0	0	0	0	1	18022	1103	39	1		1	XYLT1	16	17141276	Silent	SNP	G	C3N-00704_TP	2108369	17141276	73197069	508	21005											
ACSM2A	0	.	GRCh38	chr16	20475665	20475665	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagttacaagttcccccaTctacagaactgcgtcactgt	10	12	6	13	1	3	1	2	0	1	1	4	1	4	1	2	0	4	2	2	0	4	4	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.990T>A	p.His330Gln	p.H330Q	ENST00000573854	8/14	236	188	48	237	237	0	strelka-varscan-mutect	ACSM2A,missense_variant,p.His330Gln,ENST00000573854,NM_001308172.1,NM_001010845.2;ACSM2A,missense_variant,p.His330Gln,ENST00000396104,;ACSM2A,missense_variant,p.His330Gln,ENST00000575690,;ACSM2A,missense_variant,p.His330Gln,ENST00000219054,;ACSM2A,missense_variant,p.His251Gln,ENST00000417235,NM_001308169.1;ACSM2A,non_coding_transcript_exon_variant,,ENST00000575558,;ACSM2A,downstream_gene_variant,,ENST00000572921,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000572843,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000570698,;ACSM2A,upstream_gene_variant,,ENST00000576101,;ACSM2A,downstream_gene_variant,,ENST00000574692,;	A	ENST00000573854	Transcript	missense_variant	1104/2837	990/1734	330/577	H/Q	caT/caA		1		1	ACSM2A	HGNC	HGNC:32017	protein_coding	YES	CCDS32401.1	ENSP00000459451	Q08AH3		UPI0000251E27	NM_001308172.1,NM_001010845.2	deleterious(0.04)		8/14		hmmpanther:PTHR24095:SF188,hmmpanther:PTHR24095,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	20475665	20475665	T	A	1	0	0	0	0	1	0	0	0	225	1432	50	4		4	ACSM2A	16	20475665	Missense_Mutation	SNP	T	C3N-00704_TP	3334389	20475665	69862680	509	21006											
ACSM2B	0	.	GRCh38	chr16	20555384	20555384	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacttcttggatgacttcatCcccagcaacaatagccttgg	10	11	7	13	0	2	1	1	1	1	0	3	2	3	2	3	2	3	1	3	2	3	5			C3N-00704_TP	C3N-00704_NB	C	C																c.481G>T	p.Asp161Tyr	p.D161Y	ENST00000329697	4/14	272	210	62	270	270	0	strelka-varscan-mutect	ACSM2B,missense_variant,p.Asp161Tyr,ENST00000329697,NM_001105069.1;ACSM2B,missense_variant,p.Asp161Tyr,ENST00000414188,;ACSM2B,missense_variant,p.Asp161Tyr,ENST00000565232,;ACSM2B,missense_variant,p.Asp161Tyr,ENST00000567001,NM_182617.3;ACSM2B,missense_variant,p.Asp82Tyr,ENST00000565322,;ACSM2B,upstream_gene_variant,,ENST00000567288,;ACSM2B,upstream_gene_variant,,ENST00000569163,;ACSM2B,downstream_gene_variant,,ENST00000566384,;ACSM2B,downstream_gene_variant,,ENST00000569344,;ACSM2B,downstream_gene_variant,,ENST00000568882,;ACSM2B,missense_variant,p.Asp161Tyr,ENST00000569327,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569364,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000563943,;	A	ENST00000329697	Transcript	missense_variant	650/2935	481/1734	161/577	D/Y	Gat/Tat	COSM3507002,COSM4898945	1		-1	ACSM2B	HGNC	HGNC:30931	protein_coding	YES	CCDS10586.1	ENSP00000327453	Q68CK6		UPI00001AFAA7	NM_001105069.1	deleterious(0)		4/14		Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF188,Superfamily_domains:SSF56801											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	63	20555384	20555384	C	A	1	0	0	0	0	1	0	0	0	226	855	30	2		2	ACSM2B	16	20555384	Missense_Mutation	SNP	C	C3N-00704_TP	79719	20555384	69782961	510	21007											
HS3ST2	0	.	GRCh38	chr16	22814632	22814632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctatagggtcctgggcCgcgcggggccacctcagccg	4	6	16	15	4	1	0	1	0	0	0	2	0	2	0	6	5	1	0	6	5	2	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.22C>T	p.Arg8Cys	p.R8C	ENST00000261374	1/2	159	139	20	152	152	0	strelka-varscan-mutect	HS3ST2,missense_variant,p.Arg8Cys,ENST00000261374,NM_006043.1;CTC-591M7.1,upstream_gene_variant,,ENST00000636354,;CTC-591M7.1,upstream_gene_variant,,ENST00000636266,;HS3ST2,missense_variant,p.Arg8Cys,ENST00000473392,;	T	ENST00000261374	Transcript	missense_variant	456/2314	22/1104	8/367	R/C	Cgc/Tgc		1		1	HS3ST2	HGNC	HGNC:5195	protein_coding	YES	CCDS10606.1	ENSP00000261374	Q9Y278		UPI000004C63A	NM_006043.1	deleterious_low_confidence(0)		1/2		Low_complexity_(Seg):seg,PROSITE_profiles:PS51257,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	22814632	22814632	C	T	1	0	0	0	0	1	0	0	0	7258	652	23	1		1	HS3ST2	16	22814632	Missense_Mutation	SNP	C	C3N-00704_TP	2259248	22814632	67523713	511	21008											
RBBP6	0	.	GRCh38	chr16	24571765	24571765	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtagataaaaatccttgtAaggatcgtgagaagcatgta	15	11	10	5	1	0	2	0	1	0	2	2	4	1	3	1	1	1	4	1	1	7	5	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.4699A>T	p.Lys1567Ter	p.K1567*	ENST00000319715	18/18	93	75	18	258	258	0	strelka-varscan-mutect	RBBP6,stop_gained,p.Lys1567Ter,ENST00000319715,NM_006910.4;RBBP6,stop_gained,p.Lys1533Ter,ENST00000348022,NM_018703.3;RBBP6,stop_gained,p.Lys727Ter,ENST00000381039,;RBBP6,downstream_gene_variant,,ENST00000564314,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;	T	ENST00000319715	Transcript	stop_gained	5131/6229	4699/5379	1567/1792	K/*	Aag/Tag		1		1	RBBP6	HGNC	HGNC:9889	protein_coding	YES	CCDS10621.1	ENSP00000317872	Q7Z6E9		UPI00001A96B8	NM_006910.4			18/18																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	63	24571765	24571765	A	T	1	0	0	0	0	0	1	0	0	13264	363	13	4		4	RBBP6	16	24571765	Nonsense_Mutation	SNP	A	C3N-00704_TP	1757133	24571765	65766580	512	21009											
IL4R	0	.	GRCh38	chr16	27363019	27363019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagcagatcctccgccGaaatgtcctccagcatgggg	8	7	13	13	2	0	1	0	0	0	1	4	3	4	2	5	3	2	2	5	3	1	0	rs201672347		C3N-00704_TP	C3N-00704_NB	G	G																c.1667G>T	p.Arg556Leu	p.R556L	ENST00000395762	11/11	292	240	52	322	322	0	strelka-varscan-mutect	IL4R,missense_variant,p.Arg556Leu,ENST00000395762,NM_000418.3;IL4R,missense_variant,p.Arg556Leu,ENST00000543915,NM_001257997.1,NM_001257406.1;IL4R,missense_variant,p.Arg541Leu,ENST00000170630,NM_001257407.1;IL4R,intron_variant,,ENST00000565352,;IL4R,downstream_gene_variant,,ENST00000565179,;IL4R,downstream_gene_variant,,ENST00000565915,;IL4R,3_prime_UTR_variant,,ENST00000568746,;IL4R,downstream_gene_variant,,ENST00000563886,;	T	ENST00000395762	Transcript	missense_variant	1926/3685	1667/2478	556/825	R/L	cGa/cTa	rs201672347,COSM3508179	1		1	IL4R	HGNC	HGNC:6015	protein_coding	YES	CCDS10629.1	ENSP00000379111	P24394		UPI0000044371	NM_000418.3	tolerated(0.29)		11/11		hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF32											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201672347	.												T	3	4	63	27363019	27363019	G	T	1	0	0	0	0	1	0	0	0	7602	1058	37	1		1	IL4R	16	27363019	Missense_Mutation	SNP	G	C3N-00704_TP	2791254	27363019	62975326	513	21010											
GSG1L	0	.	GRCh38	chr16	27828839	27828839	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctatgaaggtcggctcttcCcggtagccctgctcaaagac	8	10	10	13	2	3	2	1	1	2	1	5	2	4	2	2	3	2	3	2	3	4	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.780G>T	p.=	p.R260R	ENST00000447459	5/7	176	139	37	262	260	2	strelka-varscan-mutect	GSG1L,synonymous_variant,p.=,ENST00000447459,NM_001109763.1;GSG1L,synonymous_variant,p.=,ENST00000395724,;GSG1L,synonymous_variant,p.=,ENST00000380897,NM_144675.2;GSG1L,synonymous_variant,p.=,ENST00000569166,;GSG1L,3_prime_UTR_variant,,ENST00000562611,;	A	ENST00000447459	Transcript	synonymous_variant	865/4916	780/996	260/331	R	cgG/cgT		1		-1	GSG1L	HGNC	HGNC:28283	protein_coding	YES	CCDS45450.1	ENSP00000394954	Q6UXU4		UPI0000EE765B	NM_001109763.1			5/7		hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF35																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	63	27828839	27828839	C	A	1	0	0	0	0	0	0	0	1	6704	610	22	2		2	GSG1L	16	27828839	Silent	SNP	C	C3N-00704_TP	465820	27828839	62509506	514	21011											
SETD1A	0	.	GRCh38	chr16	30983985	30983985	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacaacaagatcccgtgtCtgtgtggcacagagagctgc	12	7	12	10	1	1	3	0	0	1	3	2	4	2	3	1	1	3	2	1	1	3	0			C3N-00704_TP	C3N-00704_NB	C	C																c.5086C>T	p.=	p.L1696L	ENST00000262519	19/19	143	117	26	156	156	0	strelka-varscan-mutect	SETD1A,synonymous_variant,p.=,ENST00000262519,NM_014712.2;HSD3B7,upstream_gene_variant,,ENST00000262520,NM_001142777.1,NM_001142778.1;HSD3B7,upstream_gene_variant,,ENST00000297679,NM_025193.3;HSD3B7,upstream_gene_variant,,ENST00000562932,;HSD3B7,upstream_gene_variant,,ENST00000574447,;RP11-1072A3.3,downstream_gene_variant,,ENST00000624286,;	T	ENST00000262519	Transcript	synonymous_variant	5772/6903	5086/5124	1696/1707	L	Ctg/Ttg	COSM970053	1		1	SETD1A	HGNC	HGNC:29010	protein_coding	YES	CCDS32435.1	ENSP00000262519	O15047		UPI00001C1FA9	NM_014712.2			19/19		Gene3D:2.170.270.10,PROSITE_profiles:PS50868,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF295,SMART_domains:SM00508,Superfamily_domains:SSF82199											1						LOW	1	SNV	1		1	1										PASS		rs1219140788	.												T	2	4	63	30983985	30983985	C	T	1	0	0	0	0	0	0	0	1	14407	912	32	3		3	SETD1A	16	30983985	Silent	SNP	C	C3N-00704_TP	3155146	30983985	59354360	515	21012											
TRIM72	0	.	GRCh38	chr16	31224545	31224545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctctgcgcagccccgagagGcggcccacgcgcattggcct	5	5	14	17	5	1	1	0	0	1	1	1	2	1	1	4	3	2	3	4	3	0	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1224G>C	p.Arg408Ser	p.R408S	ENST00000322122	7/7	59	47	12	86	86	0	strelka-varscan-mutect	TRIM72,missense_variant,p.Arg408Ser,ENST00000322122,NM_001008274.3;TRIM72,intron_variant,,ENST00000613872,;	C	ENST00000322122	Transcript	missense_variant	1508/8500	1224/1434	408/477	R/S	agG/agC		1		1	TRIM72	HGNC	HGNC:32671	protein_coding	YES	CCDS32437.1	ENSP00000312675	Q6ZMU5		UPI00001FFF74	NM_001008274.3	tolerated(0.71)		7/7		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF11,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	63	31224545	31224545	G	C	1	0	0	0	0	1	0	0	0	17041	1194	42	4		4	TRIM72	16	31224545	Missense_Mutation	SNP	G	C3N-00704_TP	240560	31224545	59113800	516	21013											
ITGAM	0	.	GRCh38	chr16	31278020	31278020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcaaagcctggttctggggGcacctcgatatcagcacatc	9	9	11	12	1	2	0	1	0	1	0	4	1	2	0	2	3	3	4	2	3	2	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1267G>A	p.Ala423Thr	p.A423T	ENST00000544665	12/30	149	125	24	249	248	1	strelka-varscan-mutect	ITGAM,missense_variant,p.Ala423Thr,ENST00000544665,NM_001145808.1;ITGAM,missense_variant,p.Ala423Thr,ENST00000287497,NM_000632.3;ITGAM,intron_variant,,ENST00000567031,;ITGAM,downstream_gene_variant,,ENST00000570242,;	A	ENST00000544665	Transcript	missense_variant	1338/4718	1267/3462	423/1153	A/T	Gca/Aca		1		1	ITGAM	HGNC	HGNC:6149	protein_coding	YES	CCDS54004.1	ENSP00000441691	P11215		UPI000004B26A	NM_001145808.1	deleterious(0.02)		12/30		Gene3D:3nigC00,Prints_domain:PR01185,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,SMART_domains:SM00191,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	31278020	31278020	G	A	1	0	0	0	0	1	0	0	0	7794	1203	42	3		3	ITGAM	16	31278020	Missense_Mutation	SNP	G	C3N-00704_TP	53475	31278020	59060325	517	21014											
MYLK3	0	.	GRCh38	chr16	46738069	46738069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccactgcctgggcggggtCagctcccagccctgacgctc	5	6	13	17	2	1	1	1	1	0	0	3	2	2	1	4	3	3	2	4	3	0	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.643G>T	p.Asp215Tyr	p.D215Y	ENST00000394809	3/13	78	69	9	82	82	0	strelka-varscan-mutect	MYLK3,missense_variant,p.Asp215Tyr,ENST00000394809,NM_182493.2;MYLK3,intron_variant,,ENST00000536476,NM_001308301.1;MYLK3,non_coding_transcript_exon_variant,,ENST00000569810,;MYLK3,non_coding_transcript_exon_variant,,ENST00000564731,;	A	ENST00000394809	Transcript	missense_variant	759/6911	643/2460	215/819	D/Y	Gac/Tac		1		-1	MYLK3	HGNC	HGNC:29826	protein_coding	YES	CCDS10723.2	ENSP00000378288	Q32MK0		UPI000059D380	NM_182493.2	deleterious(0)		3/13																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	46738069	46738069	C	A	1	0	0	0	0	1	0	0	0	10058	826	29	2		2	MYLK3	16	46738069	Missense_Mutation	SNP	C	C3N-00704_TP	15460049	46738069	43600276	518	21015											
CBLN1	0	.	GRCh38	chr16	49281372	49281372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacaccaccaggcacttgcCctccagcacgatgggctccg	8	5	10	18	2	0	0	0	0	0	0	2	1	2	0	5	2	2	4	5	2	0	1			C3N-00704_TP	C3N-00704_NB	C	C																c.94G>T	p.Gly32Cys	p.G32C	ENST00000219197	1/3	256	232	24	190	190	0	strelka-varscan-mutect	CBLN1,missense_variant,p.Gly32Cys,ENST00000219197,NM_004352.3;CBLN1,missense_variant,p.Gly32Cys,ENST00000536749,;CBLN1,missense_variant,p.Gly32Cys,ENST00000564786,;	A	ENST00000219197	Transcript	missense_variant	460/2435	94/582	32/193	G/C	Ggc/Tgc	COSM2833419	1		-1	CBLN1	HGNC	HGNC:1543	protein_coding	YES	CCDS10736.1	ENSP00000219197	P23435		UPI0000127506	NM_004352.3	deleterious(0)		1/3		hmmpanther:PTHR22923:SF5,hmmpanther:PTHR22923											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	63	49281372	49281372	C	A	1	0	0	0	0	1	0	0	0	2405	623	22	2		2	CBLN1	16	49281372	Missense_Mutation	SNP	C	C3N-00704_TP	2543303	49281372	41056973	519	21016											
CHD9	0	.	GRCh38	chr16	53235184	53235184	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctttgtttttccacaaaGgaccgtcctccttctaatat	9	17	4	11	1	2	0	0	0	2	0	5	1	5	1	4	1	0	1	4	1	3	7	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2512-1G>C		p.X838_splice	ENST00000447540		84	77	7	107	107	0	strelka-varscan-mutect	CHD9,splice_acceptor_variant,,ENST00000566029,NM_025134.4;CHD9,splice_acceptor_variant,,ENST00000447540,NM_001308319.1;CHD9,splice_acceptor_variant,,ENST00000564845,;CHD9,splice_acceptor_variant,,ENST00000398510,;CHD9,splice_acceptor_variant,,ENST00000615216,;CHD9,splice_acceptor_variant,,ENST00000565803,;CHD9,intron_variant,,ENST00000622617,;CHD9,splice_acceptor_variant,,ENST00000564255,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;CHD9,non_coding_transcript_exon_variant,,ENST00000569225,;	C	ENST00000447540	Transcript	splice_acceptor_variant	-/11509	2512/8694	838/2897				1		1	CHD9	HGNC	HGNC:25701	protein_coding	YES	CCDS76865.1	ENSP00000396345	Q3L8U1		UPI0000E02AC8	NM_001308319.1				10/38																		HIGH	1	SNV	5			1										PASS		rs1232857631	.												C	5	2	63	53235184	53235184	G	C	1	0	0	0	0	0	0	1	0	3091	1014	35	4		4	CHD9	16	53235184	Splice_Site	SNP	G	C3N-00704_TP	3953812	53235184	37103161	520	21017											
CCDC102A	0	.	GRCh38	chr16	57528675	57528675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggccgtcgcgcgtctggTcggcgaccccccgggcgccc	1	4	17	19	9	1	0	0	0	1	0	3	1	1	0	5	5	0	0	5	5	0	0	rs765543276		C3N-00704_TP	C3N-00704_NB	T	T																c.503A>G	p.Asp168Gly	p.D168G	ENST00000258214	2/9	78	71	7	65	65	0	strelka-varscan-mutect	CCDC102A,missense_variant,p.Asp168Gly,ENST00000258214,NM_033212.3;	C	ENST00000258214	Transcript	missense_variant	750/2463	503/1653	168/550	D/G	gAc/gGc	rs765543276	1		-1	CCDC102A	HGNC	HGNC:28097	protein_coding	YES	CCDS10784.1	ENSP00000258214	Q96A19		UPI000013CFBA	NM_033212.3	tolerated(0.49)		2/9																			MODERATE	1	SNV	1			1										PASS		rs765543276	.												C	3	2	63	57528675	57528675	T	C	1	0	0	0	0	1	0	0	0	2434	1667	58	5		5	CCDC102A	16	57528675	Missense_Mutation	SNP	T	C3N-00704_TP	4293491	57528675	32809670	521	21018											
ADGRG5	0	.	GRCh38	chr16	57574931	57574931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaccctgcgcaggctgcGggagcgggcggatgcaccaa	7	4	18	12	4	0	0	0	0	0	0	0	3	0	3	2	5	4	3	2	5	1	0	rs780881181		C3N-00704_TP	C3N-00704_NB	G	G																c.1325G>T	p.Arg442Leu	p.R442L	ENST00000340339	11/12	268	224	44	206	206	0	strelka-varscan-mutect	ADGRG5,missense_variant,p.Arg442Leu,ENST00000340339,NM_153837.2;ADGRG5,missense_variant,p.Arg442Leu,ENST00000349457,NM_001304376.1;ADGRG5,non_coding_transcript_exon_variant,,ENST00000394361,;ADGRG5,non_coding_transcript_exon_variant,,ENST00000569839,;ADGRG5,non_coding_transcript_exon_variant,,ENST00000564607,;	T	ENST00000340339	Transcript	missense_variant	1848/3767	1325/1587	442/528	R/L	cGg/cTg	rs780881181,COSM3818153	1		1	ADGRG5	HGNC	HGNC:19010	protein_coding	YES	CCDS10785.1	ENSP00000342981	Q8IZF4	A0A024R6S3	UPI0000039944	NM_153837.2	deleterious(0)		11/12		Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF326,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs780881181	.												T	3	4	63	57574931	57574931	G	T	1	0	0	0	0	1	0	0	0	372	1116	39	1		1	ADGRG5	16	57574931	Missense_Mutation	SNP	G	C3N-00704_TP	46256	57574931	32763414	522	21019											
KIFC3	0	.	GRCh38	chr16	57765551	57765551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgatggagtcgtcgtCggcatcgaaagtcacagcat	10	9	14	8	4	1	1	1	1	0	0	5	4	1	3	0	3	1	2	0	3	1	0	rs372355077		C3N-00704_TP	C3N-00704_NB	C	C																c.1420G>T	p.Asp474Tyr	p.D474Y	ENST00000379655	11/19	380	344	36	278	278	0	strelka-varscan-mutect	KIFC3,missense_variant,p.Asp474Tyr,ENST00000379655,NM_005550.3;KIFC3,missense_variant,p.Asp474Tyr,ENST00000445690,NM_001318710.1,NM_001130100.1;KIFC3,missense_variant,p.Asp335Tyr,ENST00000465878,NM_001318715.1;KIFC3,missense_variant,p.Asp335Tyr,ENST00000562903,;KIFC3,missense_variant,p.Asp335Tyr,ENST00000421376,NM_001130099.1;KIFC3,missense_variant,p.Asp496Tyr,ENST00000541240,;KIFC3,missense_variant,p.Asp335Tyr,ENST00000543930,;KIFC3,missense_variant,p.Asp372Tyr,ENST00000540079,;KIFC3,upstream_gene_variant,,ENST00000565270,;KIFC3,upstream_gene_variant,,ENST00000565397,;KIFC3,non_coding_transcript_exon_variant,,ENST00000563266,;KIFC3,missense_variant,p.Asp335Tyr,ENST00000564136,;KIFC3,upstream_gene_variant,,ENST00000565753,;	A	ENST00000379655	Transcript	missense_variant	1678/3427	1420/2502	474/833	D/Y	Gac/Tac	rs372355077	1		-1	KIFC3	HGNC	HGNC:6326	protein_coding	YES	CCDS10789.2	ENSP00000368976	Q9BVG8		UPI000059D399	NM_005550.3	deleterious(0)		11/19		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF387,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs372355077	.												A	3	1	63	57765551	57765551	C	A	1	0	0	0	0	1	0	0	0	8179	884	31	1		1	KIFC3	16	57765551	Missense_Mutation	SNP	C	C3N-00704_TP	190620	57765551	32572794	523	21020											
TANGO6	0	.	GRCh38	chr16	68919129	68919129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgcagagagcctgtgcaagCctggcccatcaggcagagag	10	6	14	11	0	1	2	1	0	0	2	1	4	1	2	3	2	4	3	3	2	1	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2037C>T	p.=	p.S679S	ENST00000261778	12/18	145	112	33	171	171	0	strelka-varscan-mutect	TANGO6,synonymous_variant,p.=,ENST00000261778,NM_024562.1;TANGO6,3_prime_UTR_variant,,ENST00000561856,;	T	ENST00000261778	Transcript	synonymous_variant	2049/4816	2037/3285	679/1094	S	agC/agT		1		1	TANGO6	HGNC	HGNC:25749	protein_coding	YES	CCDS45516.1	ENSP00000261778	Q9C0B7		UPI00001FF4A8	NM_024562.1			12/18		Gene3D:1.25.10.10,hmmpanther:PTHR20959,hmmpanther:PTHR20959:SF1,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	63	68919129	68919129	C	T	1	0	0	0	0	0	0	0	1	15944	738	26	3		3	TANGO6	16	68919129	Silent	SNP	C	C3N-00704_TP	11153578	68919129	21419216	524	21021											
CMTR2	0	.	GRCh38	chr16	71284705	71284705	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtttcagttgaaatttttGcataaaatattgtatagcac	14	17	6	4	0	1	1	1	1	0	0	1	1	1	1	0	0	2	5	0	0	6	9	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1216C>T	p.Gln406Ter	p.Q406*	ENST00000338099	3/3	87	63	24	173	173	0	strelka-varscan-mutect	CMTR2,stop_gained,p.Gln406Ter,ENST00000338099,;CMTR2,stop_gained,p.Gln406Ter,ENST00000434935,NM_001324377.1,NM_018348.5,NM_001099642.1;CMTR2,downstream_gene_variant,,ENST00000565850,;CMTR2,downstream_gene_variant,,ENST00000568910,;CMTR2,downstream_gene_variant,,ENST00000563876,;CMTR2,downstream_gene_variant,,ENST00000564183,;CMTR2,downstream_gene_variant,,ENST00000567610,;CMTR2,downstream_gene_variant,,ENST00000564690,;	A	ENST00000338099	Transcript	stop_gained	1553/4869	1216/2313	406/770	Q/*	Caa/Taa		1		-1	CMTR2	HGNC	HGNC:25635	protein_coding	YES	CCDS10898.1	ENSP00000337512	Q8IYT2		UPI000006EA8B				3/3		hmmpanther:PTHR16121,hmmpanther:PTHR16121:SF2																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	63	71284705	71284705	G	A	1	0	0	0	0	0	1	0	0	3367	1328	46	3		3	CMTR2	16	71284705	Nonsense_Mutation	SNP	G	C3N-00704_TP	2365576	71284705	19053640	525	21022											
PHLPP2	0	.	GRCh38	chr16	71658748	71658748	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacagtttgctatggttgTgggaatggttttaagcttgt	7	19	12	3	0	0	0	0	0	0	0	0	1	0	1	0	3	3	5	0	3	4	8			C3N-00704_TP	C3N-00704_NB	T	T																c.2053A>T	p.Thr685Ser	p.T685S	ENST00000568954	14/19	185	149	36	318	318	0	strelka-varscan-mutect	PHLPP2,missense_variant,p.Thr618Ser,ENST00000393524,NM_001289003.1;PHLPP2,missense_variant,p.Thr685Ser,ENST00000568954,NM_015020.3;PHLPP2,missense_variant,p.Thr720Ser,ENST00000567016,;RP11-432I5.6,intron_variant,,ENST00000567077,;PHLPP2,missense_variant,p.Thr423Ser,ENST00000568004,;PHLPP2,missense_variant,p.Thr48Ser,ENST00000564884,;	A	ENST00000568954	Transcript	missense_variant	2432/8317	2053/3972	685/1323	T/S	Aca/Tca	COSM4871764,COSM973349	1		-1	PHLPP2	HGNC	HGNC:29149	protein_coding	YES	CCDS32479.1	ENSP00000457991	Q6ZVD8		UPI0000229F5A	NM_015020.3	tolerated(0.24)		14/19		PROSITE_profiles:PS51450,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00364,SMART_domains:SM00369,Superfamily_domains:SSF52058											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	63	71658748	71658748	T	A	1	0	0	0	0	1	0	0	0	11943	1696	59	4		4	PHLPP2	16	71658748	Missense_Mutation	SNP	T	C3N-00704_TP	374043	71658748	18679597	526	21023											
SMG6	0	.	GRCh38	chr17	2300403	2300403	+	Frame_Shift_Del	DEL	C	C	-																															tcctaggaaaggattcttgtCcccgattattttctgggtct																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.350delG	p.Gly117AspfsTer16	p.G117Dfs*16	ENST00000263073	2/19	177	129	48	250	250	0	sindel-varindel-pindel	SMG6,frameshift_variant,p.Gly117AspfsTer16,ENST00000263073,NM_017575.4;SRR,upstream_gene_variant,,ENST00000344595,NM_021947.2;SRR,upstream_gene_variant,,ENST00000576848,;SRR,upstream_gene_variant,,ENST00000574987,;SRR,upstream_gene_variant,,ENST00000575840,;SRR,upstream_gene_variant,,ENST00000576620,;SRR,upstream_gene_variant,,ENST00000572709,;	-	ENST00000263073	Transcript	frameshift_variant	401/5960	350/4260	117/1419	G/X	gGa/ga		1		-1	SMG6	HGNC	HGNC:17809	protein_coding	YES	CCDS11016.1	ENSP00000263073	Q86US8		UPI00002005C8	NM_017575.4			2/19																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	63	2300403	2300403	C	-	1	0	1	0	1	0	0	0	0	15091	855	30	0		0	SMG6	17	2300403	Frame_Shift_Del	DEL	C	C3N-00704_TP		2300403	80957038	527	21024											
SPNS3	0	.	GRCh38	chr17	4453143	4453143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgcctccagcctgcttGccacagccccctgcctctac	4	9	7	21	1	2	0	0	0	2	0	3	0	3	0	7	0	7	1	7	0	1	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1051G>T	p.Ala351Ser	p.A351S	ENST00000355530	8/12	139	111	28	198	198	0	strelka-varscan-mutect	SPNS3,missense_variant,p.Ala351Ser,ENST00000355530,NM_182538.4;SPNS3,non_coding_transcript_exon_variant,,ENST00000576069,;SPNS3,3_prime_UTR_variant,,ENST00000575194,NM_001320449.1;SPNS3,downstream_gene_variant,,ENST00000575185,;SPNS3,downstream_gene_variant,,ENST00000572078,;	T	ENST00000355530	Transcript	missense_variant	1331/2133	1051/1539	351/512	A/S	Gcc/Tcc		1		1	SPNS3	HGNC	HGNC:28433	protein_coding	YES	CCDS11045.1	ENSP00000347721	Q6ZMD2		UPI00001971EC	NM_182538.4	tolerated(0.48)		8/12		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR23505,hmmpanther:PTHR23505:SF3,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	63	4453143	4453143	G	T	1	0	0	0	0	1	0	0	0	15429	1319	46	2		2	SPNS3	17	4453143	Missense_Mutation	SNP	G	C3N-00704_TP	2152740	4453143	78804298	528	21025											
GP1BA	0	.	GRCh38	chr17	4933077	4933077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgaagaccctgcccccagGgctcctgacgcccacaccca	8	4	9	20	1	0	3	0	2	0	1	1	3	1	3	6	1	1	2	6	1	1	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.473G>T	p.Gly158Val	p.G158V	ENST00000329125	2/2	181	141	40	268	268	0	strelka-varscan-mutect	GP1BA,missense_variant,p.Gly158Val,ENST00000329125,NM_000173.6;GP1BA,missense_variant,p.Gly158Val,ENST00000611961,;SLC25A11,downstream_gene_variant,,ENST00000225665,NM_003562.4;SLC25A11,downstream_gene_variant,,ENST00000544061,NM_001165418.1;SLC25A11,downstream_gene_variant,,ENST00000576951,NM_001165417.1;SLC25A11,downstream_gene_variant,,ENST00000574710,;	T	ENST00000329125	Transcript	missense_variant	548/2501	473/1959	158/652	G/V	gGg/gTg		1		1	GP1BA	HGNC	HGNC:4439	protein_coding	YES	CCDS54068.1	ENSP00000329380	P07359		UPI0001CB792B	NM_000173.6	deleterious(0.01)		2/2		Low_complexity_(Seg):seg,PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF61,hmmpanther:PTHR24369,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00364,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs1443315792	.												T	3	4	63	4933077	4933077	G	T	1	0	0	0	0	1	0	0	0	6476	1232	43	2		2	GP1BA	17	4933077	Missense_Mutation	SNP	G	C3N-00704_TP	479934	4933077	78324364	529	21026											
TP53	0	.	GRCh38	chr17	7674238	7674238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggttcatgccgcccatgCaggaactgttacacatgtag	9	10	10	12	2	1	0	1	0	0	0	2	1	2	1	3	2	4	4	3	2	3	3	rs121912655		C3N-00704_TP	C3N-00704_NB	C	C																c.725G>T	p.Cys242Phe	p.C242F	ENST00000269305	7/11	291	216	75	344	344	0	strelka-varscan-mutect	TP53,missense_variant,p.Cys242Phe,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Cys242Phe,ENST00000420246,;TP53,missense_variant,p.Cys203Phe,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Cys203Phe,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Cys242Phe,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Cys203Phe,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Cys242Phe,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Cys203Phe,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Cys242Phe,ENST00000445888,;TP53,missense_variant,p.Cys203Phe,ENST00000619485,;TP53,missense_variant,p.Cys110Phe,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Cys83Phe,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Cys110Phe,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Cys83Phe,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Cys110Phe,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Cys83Phe,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Cys242Phe,ENST00000359597,;TP53,missense_variant,p.Cys231Phe,ENST00000615910,;TP53,missense_variant,p.Cys242Phe,ENST00000413465,;TP53,missense_variant,p.Cys110Phe,ENST00000509690,;TP53,missense_variant,p.Cys149Phe,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Cys203Phe,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	915/2579	725/1182	242/393	C/F	tGc/tTc	rs121912655,CM910618,TP53_g.13362G>A,TP53_g.13362G>T,TP53_g.13362G>C,COSM10646,COSM10810,COSM11133,COSM129834,COSM129835,COSM129836,COSM1610838,COSM1610839,COSM1610840,COSM1646852,COSM251396,COSM251397,COSM251398,COSM2744611,COSM2744612,COSM3378347,COSM3403262,COSM3717642	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										pathogenic	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs121912655	.												A	3	1	63	7674238	7674238	C	A	1	0	0	0	0	1	0	0	0	16859	710	25	2		2	TP53	17	7674238	Missense_Mutation	SNP	C	C3N-00704_TP	2741161	7674238	75583203	530	21027											
PER1	0	.	GRCh38	chr17	8147791	8147791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcacagaagcggataGgggagtggtcaaagggctgg	10	5	20	6	2	1	1	1	0	0	1	1	3	1	3	0	7	2	2	0	7	3	1	rs778073764		C3N-00704_TP	C3N-00704_NB	G	G																c.1271C>T	p.Pro424Leu	p.P424L	ENST00000317276	11/23	173	130	43	276	276	0	strelka-varscan-mutect	PER1,missense_variant,p.Pro424Leu,ENST00000317276,NM_002616.2;PER1,missense_variant,p.Pro404Leu,ENST00000581082,;PER1,missense_variant,p.Pro408Leu,ENST00000354903,;PER1,downstream_gene_variant,,ENST00000577253,;PER1,downstream_gene_variant,,ENST00000584202,;PER1,downstream_gene_variant,,ENST00000581703,;PER1,upstream_gene_variant,,ENST00000583559,;RP11-599B13.6,downstream_gene_variant,,ENST00000498285,;PER1,upstream_gene_variant,,ENST00000614952,;PER1,upstream_gene_variant,,ENST00000578089,;PER1,missense_variant,p.Pro424Leu,ENST00000582719,;PER1,missense_variant,p.Pro424Leu,ENST00000581395,;PER1,non_coding_transcript_exon_variant,,ENST00000578223,;PER1,non_coding_transcript_exon_variant,,ENST00000579203,;PER1,downstream_gene_variant,,ENST00000579065,;PER1,upstream_gene_variant,,ENST00000585095,;PER1,upstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000578950,;PER1,upstream_gene_variant,,ENST00000579098,;	A	ENST00000317276	Transcript	missense_variant	1509/4707	1271/3873	424/1290	P/L	cCt/cTt	rs778073764	1		-1	PER1	HGNC	HGNC:8845	protein_coding	YES	CCDS11131.1	ENSP00000314420	O15534		UPI000013FFF5	NM_002616.2	deleterious(0)		11/23		hmmpanther:PTHR11269:SF8,hmmpanther:PTHR11269,Gene3D:3.30.450.20,Pfam_domain:PF08447,Superfamily_domains:SSF55785																	MODERATE	1	SNV	1			1										PASS		rs778073764	.												A	3	1	63	8147791	8147791	G	A	1	0	0	0	0	1	0	0	0	11817	1000	35	3		3	PER1	17	8147791	Missense_Mutation	SNP	G	C3N-00704_TP	473553	8147791	75109650	531	21028											
MYH1	0	.	GRCh38	chr17	10512690	10512690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtataacttacatctgtagcCatcaactcttcttggtcatc	10	15	5	11	0	5	0	2	0	3	0	6	0	5	0	1	1	4	2	1	1	5	6	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.999G>T	p.Met333Ile	p.M333I	ENST00000226207	11/40	174	131	43	239	239	0	strelka-varscan-mutect	MYH1,missense_variant,p.Met333Ile,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000226207	Transcript	missense_variant	1094/6024	999/5820	333/1939	M/I	atG/atT		1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3	tolerated(0.19)		11/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF454,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	63	10512690	10512690	C	A	1	0	0	0	0	1	0	0	0	10029	594	21	2		2	MYH1	17	10512690	Missense_Mutation	SNP	C	C3N-00704_TP	2364899	10512690	72744751	532	21029											
MYH3	0	.	GRCh38	chr17	10639446	10639446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcaattgtttcatctaacCcagagagttcctcagtaagg	11	13	8	9	0	3	1	2	0	1	1	4	2	4	1	2	1	2	4	2	1	3	6	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2954G>A	p.Gly985Glu	p.G985E	ENST00000583535	24/41	205	163	42	370	370	0	strelka-varscan-mutect	MYH3,missense_variant,p.Gly985Glu,ENST00000583535,NM_002470.3;	T	ENST00000583535	Transcript	missense_variant	3042/6037	2954/5823	985/1940	G/E	gGg/gAg		1		-1	MYH3	HGNC	HGNC:7573	protein_coding	YES	CCDS11157.1	ENSP00000464317	P11055		UPI000013C892	NM_002470.3	tolerated(0.1)		24/41		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF427,Pfam_domain:PF01576,Superfamily_domains:SSF90257																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	63	10639446	10639446	C	T	1	0	0	0	0	1	0	0	0	10036	623	22	3		3	MYH3	17	10639446	Missense_Mutation	SNP	C	C3N-00704_TP	126756	10639446	72617995	533	21030											
TBC1D28	0	.	GRCh38	chr17	18637870	18637870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccattggccttacttgactCcgaatctttgtatgaacatc	9	14	6	12	1	1	2	0	2	1	0	3	3	2	2	3	1	2	1	3	1	4	5	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.491G>T	p.Gly164Val	p.G164V	ENST00000345096	8/9	307	250	57	455	453	2	strelka-varscan-mutect	TBC1D28,missense_variant,p.Gly164Val,ENST00000345096,;TBC1D28,missense_variant,p.Gly164Val,ENST00000405044,NM_001039397.2;TBC1D28,downstream_gene_variant,,ENST00000575220,;TBC1D28,downstream_gene_variant,,ENST00000572213,;TBC1D28,downstream_gene_variant,,ENST00000573652,;TBC1D28,downstream_gene_variant,,ENST00000575211,;TBC1D28,downstream_gene_variant,,ENST00000575570,;TBC1D28,downstream_gene_variant,,ENST00000579178,;TBC1D28,downstream_gene_variant,,ENST00000575970,;TBC1D28,downstream_gene_variant,,ENST00000570881,;RP11-815I9.3,downstream_gene_variant,,ENST00000571884,;	A	ENST00000345096	Transcript	missense_variant	1191/2789	491/633	164/210	G/V	gGa/gTa		1		-1	TBC1D28	HGNC	HGNC:26858	protein_coding	YES	CCDS42273.1	ENSP00000339973	Q2M2D7		UPI0000251DA5		deleterious(0)		8/9		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF322,Pfam_domain:PF00566,Gene3D:2qq8A02,Superfamily_domains:SSF47923																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	63	18637870	18637870	C	A	1	0	0	0	0	1	0	0	0	16017	855	30	2		2	TBC1D28	17	18637870	Missense_Mutation	SNP	C	C3N-00704_TP	7998424	18637870	64619571	534	21031											
MAP2K3	0	.	GRCh38	chr17	21298461	21298461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatcctgcatgtccaagcCacccgcacccaaccccacgt	10	6	6	19	2	0	0	0	0	0	0	2	1	2	0	7	0	3	2	7	0	3	1			C3N-00704_TP	C3N-00704_NB	C	C																c.98C>A	p.Pro33Gln	p.P33Q	ENST00000342679	2/12	447	413	34	675	674	1	strelka-varscan-mutect	MAP2K3,missense_variant,p.Pro33Gln,ENST00000342679,NM_145109.2;MAP2K3,missense_variant,p.Pro4Gln,ENST00000361818,NM_002756.4;MAP2K3,missense_variant,p.Pro4Gln,ENST00000613338,;MAP2K3,missense_variant,p.Pro4Gln,ENST00000316920,;MAP2K3,missense_variant,p.Pro4Gln,ENST00000526076,;MAP2K3,downstream_gene_variant,,ENST00000529517,;MAP2K3,downstream_gene_variant,,ENST00000627447,;MAP2K3,missense_variant,p.Pro33Gln,ENST00000496046,;MAP2K3,3_prime_UTR_variant,,ENST00000395491,NM_001316332.1;MAP2K3,3_prime_UTR_variant,,ENST00000479129,;MAP2K3,non_coding_transcript_exon_variant,,ENST00000583508,;MAP2K3,downstream_gene_variant,,ENST00000483928,;	A	ENST00000342679	Transcript	missense_variant	347/2303	98/1044	33/347	P/Q	cCa/cAa	COSM2798817,COSM382006,COSM5368129	1		1	MAP2K3	HGNC	HGNC:6843	protein_coding	YES	CCDS11217.1	ENSP00000345083	P46734	Q6FI23	UPI000012F48C	NM_145109.2	tolerated(0.43)		2/12		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF191,Low_complexity_(Seg):seg											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs1391649195	.												A	3	1	63	21298461	21298461	C	A	1	0	0	0	0	1	0	0	0	9160	594	21	2		2	MAP2K3	17	21298461	Missense_Mutation	SNP	C	C3N-00704_TP	2660591	21298461	61958980	535	21032											
TMEM132E	0	.	GRCh38	chr17	34637675	34637675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgacagacctggagatcGgcatgtacgcgctgctgggc	7	8	15	11	3	1	3	0	1	1	2	2	4	1	3	1	3	2	4	1	3	1	1	rs748031574		C3N-00704_TP	C3N-00704_NB	G	G																c.2398G>T	p.Gly800Cys	p.G800C	ENST00000321639	10/10	105	81	24	138	138	0	strelka-varscan-mutect	TMEM132E,missense_variant,p.Gly890Cys,ENST00000631683,NM_001304438.1;TMEM132E,missense_variant,p.Gly800Cys,ENST00000321639,;TMEM132E,downstream_gene_variant,,ENST00000577271,;	T	ENST00000321639	Transcript	missense_variant	2726/4369	2398/2955	800/984	G/C	Ggc/Tgc	rs748031574	1		1	TMEM132E	HGNC	HGNC:26991	protein_coding	YES		ENSP00000316532	Q6IEE7		UPI000035960F		deleterious(0)		10/10		Pfam_domain:PF15706,hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF7																	MODERATE	1	SNV	5			1										PASS		rs748031574	.												T	3	4	63	34637675	34637675	G	T	1	0	0	0	0	1	0	0	0	16493	1116	39	1		1	TMEM132E	17	34637675	Missense_Mutation	SNP	G	C3N-00704_TP	13339214	34637675	48619766	536	21033											
CCL3	0	.	GRCh38	chr17	36090024	36090024	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagagccatggtgcagAggaggacagcaagggcagca	13	3	17	8	0	0	2	0	0	0	2	0	5	0	4	1	4	5	5	1	4	1	0	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.35T>A	p.Leu12His	p.L12H	ENST00000613922	1/3	370	338	32	514	514	0	strelka-varscan-mutect	CCL3,missense_variant,p.Leu12His,ENST00000613922,NM_002983.2;AC069363.1,non_coding_transcript_exon_variant,,ENST00000616926,;AC069363.1,downstream_gene_variant,,ENST00000620056,;AC069363.1,downstream_gene_variant,,ENST00000615750,;CCL3,non_coding_transcript_exon_variant,,ENST00000614051,;CCL3,non_coding_transcript_exon_variant,,ENST00000613928,;	T	ENST00000613922	Transcript	missense_variant	118/778	35/279	12/92	L/H	cTc/cAc		1		-1	CCL3	HGNC	HGNC:10627	protein_coding	YES	CCDS11307.1	ENSP00000477908	P10147		UPI00001362C9	NM_002983.2	deleterious(0)		1/3		hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF94,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	36090024	36090024	A	T	1	0	0	0	0	1	0	0	0	2599	304	11	4		4	CCL3	17	36090024	Missense_Mutation	SNP	A	C3N-00704_TP	1452349	36090024	47167417	537	21034											
ARHGAP23	0	.	GRCh38	chr17	38500596	38500596	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctgtctttcaccaacaGattctaccacctgtagttca	9	16	4	12	0	5	1	2	0	3	1	5	1	5	1	3	0	2	2	3	0	3	7	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.3416-1G>A		p.X1139_splice	ENST00000622683		196	164	32	250	250	0	strelka-varscan-mutect	ARHGAP23,splice_acceptor_variant,,ENST00000622683,NM_001199417.1;ARHGAP23,splice_acceptor_variant,,ENST00000620417,;ARHGAP23,splice_acceptor_variant,,ENST00000614693,;ARHGAP23,splice_acceptor_variant,,ENST00000620329,;ARHGAP23,non_coding_transcript_exon_variant,,ENST00000618325,;	A	ENST00000622683	Transcript	splice_acceptor_variant	-/5964	3416/4476	1139/1491				1		1	ARHGAP23	HGNC	HGNC:29293	protein_coding	YES	CCDS56027.1	ENSP00000481862	Q9P227		UPI0000F3BE51	NM_001199417.1				22/23																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	63	38500596	38500596	G	A	1	0	0	0	0	0	0	1	0	997	956	33	3		3	ARHGAP23	17	38500596	Splice_Site	SNP	G	C3N-00704_TP	2410572	38500596	44756845	538	21035											
KRT16	0	.	GRCh38	chr17	41609941	41609941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagctcagttctaggaGctctggccctggctgaagct	7	9	14	11	0	3	1	1	1	2	0	3	3	3	2	1	4	3	6	1	4	2	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1416C>T	p.=	p.S472S	ENST00000301653	8/8	414	335	79	559	559	0	strelka-varscan-mutect	KRT16,synonymous_variant,p.=,ENST00000301653,NM_005557.3;KRT16,downstream_gene_variant,,ENST00000593067,;KRT16,downstream_gene_variant,,ENST00000590990,;KRT16,downstream_gene_variant,,ENST00000588319,;	A	ENST00000301653	Transcript	synonymous_variant	1481/1644	1416/1422	472/473	S	agC/agT		1		-1	KRT16	HGNC	HGNC:6423	protein_coding	YES	CCDS11401.1	ENSP00000301653	P08779		UPI0000001C7B	NM_005557.3			8/8		Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF105																	LOW	1	SNV	1			1										PASS		rs1295536283	.												A	2	1	63	41609941	41609941	G	A	1	0	0	0	0	0	0	0	1	8335	962	34	3		3	KRT16	17	41609941	Silent	SNP	G	C3N-00704_TP	3109345	41609941	41647500	539	21036											
HAP1	0	.	GRCh38	chr17	41724870	41724870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaggtgtgaagggcccaagCcgctggcctccagggctgat	7	6	15	13	1	0	2	0	2	0	0	1	2	1	2	5	4	1	2	5	4	2	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1691G>T	p.Gly564Val	p.G564V	ENST00000347901	11/11	216	166	50	276	276	0	strelka-varscan-mutect	HAP1,missense_variant,p.Gly539Val,ENST00000393939,NM_001079871.1;HAP1,missense_variant,p.Gly616Val,ENST00000310778,;HAP1,missense_variant,p.Gly564Val,ENST00000347901,NM_177977.2;HAP1,missense_variant,p.Gly547Val,ENST00000341193,NM_001079870.1;HAP1,missense_variant,p.Gly71Val,ENST00000458656,;HAP1,intron_variant,,ENST00000442364,;HAP1,intron_variant,,ENST00000455021,;	A	ENST00000347901	Transcript	missense_variant	1701/3931	1691/1860	564/619	G/V	gGc/gTc		1		-1	HAP1	HGNC	HGNC:4812	protein_coding	YES	CCDS11406.1	ENSP00000334002	P54257		UPI000024700D	NM_177977.2	deleterious_low_confidence(0)		11/11		hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	41724870	41724870	C	A	1	0	0	0	0	1	0	0	0	6839	739	26	2		2	HAP1	17	41724870	Missense_Mutation	SNP	C	C3N-00704_TP	114929	41724870	41532571	540	21037											
IGF2BP1	0	.	GRCh38	chr17	49046310	49046310	+	Missense_Mutation	SNP	C	C	A																															gaggtggtagtaccaagagaCcagacccctgatgagaacga																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1578C>A	p.Asp526Glu	p.D526E	ENST00000290341	14/15	226	192	34	275	275	0	strelka-varscan-mutect	IGF2BP1,missense_variant,p.Asp526Glu,ENST00000290341,NM_006546.3;IGF2BP1,missense_variant,p.Asp387Glu,ENST00000431824,NM_001160423.1;	A	ENST00000290341	Transcript	missense_variant	1912/8274	1578/1734	526/577	D/E	gaC/gaA		1		1	IGF2BP1	HGNC	HGNC:28866	protein_coding	YES	CCDS11543.1	ENSP00000290341	Q9NZI8		UPI0000117170	NM_006546.3	tolerated(0.39)		14/15		PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF92,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	49046310	49046310	C	A	1	0	0	0	0	1	0	0	0	7479	506	18	2		2	IGF2BP1	17	49046310	Missense_Mutation	SNP	C	C3N-00704_TP	7321440	49046310	34211131	541	21038	446	2									
IGF2BP1	0	.	GRCh38	chr17	49046311	49046311	+	Nonsense_Mutation	SNP	C	C	T																															aggtggtagtaccaagagacCagacccctgatgagaacgac																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1579C>T	p.Gln527Ter	p.Q527*	ENST00000290341	14/15	226	192	34	269	269	0	strelka-varscan-mutect	IGF2BP1,stop_gained,p.Gln527Ter,ENST00000290341,NM_006546.3;IGF2BP1,stop_gained,p.Gln388Ter,ENST00000431824,NM_001160423.1;	T	ENST00000290341	Transcript	stop_gained	1913/8274	1579/1734	527/577	Q/*	Cag/Tag		1		1	IGF2BP1	HGNC	HGNC:28866	protein_coding	YES	CCDS11543.1	ENSP00000290341	Q9NZI8		UPI0000117170	NM_006546.3			14/15		PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF92,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	63	49046311	49046311	C	T	1	0	0	0	0	0	1	0	0	7479	595	21	3		3	IGF2BP1	17	49046311	Nonsense_Mutation	SNP	C	C3N-00704_TP	1	49046311	34211130	542	21039	446	2									
ANKFN1	0	.	GRCh38	chr17	56457348	56457348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgaaatagatgactctCacaccagttctattacacaa	14	13	5	9	0	2	3	1	2	2	1	3	3	2	3	1	0	1	2	1	0	5	6	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1408C>A	p.His470Asn	p.H470N	ENST00000318698	12/17	38	28	10	104	104	0	strelka-varscan-mutect	ANKFN1,missense_variant,p.His470Asn,ENST00000566473,;ANKFN1,missense_variant,p.His470Asn,ENST00000318698,NM_153228.2;ANKFN1,non_coding_transcript_exon_variant,,ENST00000572321,;	A	ENST00000318698	Transcript	missense_variant	1443/2426	1408/2292	470/763	H/N	Cac/Aac		1		1	ANKFN1	HGNC	HGNC:26766	protein_coding	YES	CCDS32686.1	ENSP00000321627	Q8N957		UPI000049DE57	NM_153228.2	deleterious(0.02)		12/17		hmmpanther:PTHR21437,hmmpanther:PTHR21437:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	63	56457348	56457348	C	A	1	0	0	0	0	1	0	0	0	727	826	29	2		2	ANKFN1	17	56457348	Missense_Mutation	SNP	C	C3N-00704_TP	7411037	56457348	26800093	543	21040											
OR4D1	0	.	GRCh38	chr17	58155315	58155315	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagtgacttttgactgccgGctccacacacccatgtattt	9	12	7	13	1	0	2	0	2	0	0	1	2	1	2	3	1	1	2	3	1	1	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.162G>A	p.=	p.R54R	ENST00000268912	1/1	157	139	18	237	237	0	strelka-varscan-mutect	OR4D1,synonymous_variant,p.=,ENST00000268912,NM_012374.1;MSX2P1,upstream_gene_variant,,ENST00000584100,;	A	ENST00000268912	Transcript	synonymous_variant	183/1024	162/933	54/310	R	cgG/cgA		1		1	OR4D1	HGNC	HGNC:8293	protein_coding	YES	CCDS42365.1	ENSP00000365451	Q15615		UPI0000041E8C	NM_012374.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF310,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	63	58155315	58155315	G	A	1	0	0	0	0	0	0	0	1	11130	1190	42	3		3	OR4D1	17	58155315	Silent	SNP	G	C3N-00704_TP	1697967	58155315	25102126	544	21041											
TANC2	0	.	GRCh38	chr17	63389500	63389500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggatatgctgcagcagcaGggtacctgagcattgtggtg	8	10	16	7	0	0	1	0	1	0	0	0	2	0	2	1	3	6	6	1	3	2	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2785G>T	p.Gly929Trp	p.G929W	ENST00000424789	15/25	473	421	52	478	478	0	strelka-varscan-mutect	TANC2,missense_variant,p.Gly929Trp,ENST00000424789,NM_025185.3;TANC2,missense_variant,p.Gly858Trp,ENST00000583356,;TANC2,missense_variant,p.Gly929Trp,ENST00000389520,;TANC2,missense_variant,p.Gly30Trp,ENST00000613171,;AC015923.1,intron_variant,,ENST00000431604,;RP11-269G24.3,downstream_gene_variant,,ENST00000583552,;TANC2,non_coding_transcript_exon_variant,,ENST00000583545,;TANC2,non_coding_transcript_exon_variant,,ENST00000581143,;RP11-269G24.7,upstream_gene_variant,,ENST00000606610,;	T	ENST00000424789	Transcript	missense_variant	2789/11721	2785/5973	929/1990	G/W	Ggg/Tgg		1		1	TANC2	HGNC	HGNC:30212	protein_coding	YES	CCDS45754.1	ENSP00000387593	Q9HCD6		UPI00015D57DF	NM_025185.3	deleterious(0)		15/25		Gene3D:1.25.40.20,Pfam_domain:PF12796,Prints_domain:PR01415,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF21,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	63	63389500	63389500	G	T	1	0	0	0	0	1	0	0	0	15942	1000	35	2		2	TANC2	17	63389500	Missense_Mutation	SNP	G	C3N-00704_TP	5234185	63389500	19867941	545	21042											
ABCA8	0	.	GRCh38	chr17	68917412	68917412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaacaaagaagagcccGcgcactttagcttcccttgg	12	9	9	11	2	0	3	0	0	0	3	1	3	1	3	2	1	3	2	2	1	5	5	rs145869753		C3N-00704_TP	C3N-00704_NB	G	G																c.2087C>A	p.Ala696Glu	p.A696E	ENST00000586539	17/40	116	100	16	201	201	0	strelka-varscan-mutect	ABCA8,missense_variant,p.Ala696Glu,ENST00000430352,NM_001288986.1;ABCA8,missense_variant,p.Ala656Glu,ENST00000269080,NM_007168.3;ABCA8,missense_variant,p.Ala696Glu,ENST00000586539,NM_001288985.1;ABCA8,3_prime_UTR_variant,,ENST00000615593,;ABCA8,missense_variant,p.Ala344Glu,ENST00000589533,;ABCA8,non_coding_transcript_exon_variant,,ENST00000541225,;ABCA8,downstream_gene_variant,,ENST00000587206,;	T	ENST00000586539	Transcript	missense_variant	2276/5088	2087/4866	696/1621	A/E	gCg/gAg	rs145869753,COSM1640784,COSM3421831	1		-1	ABCA8	HGNC	HGNC:38	protein_coding	YES	CCDS74139.1	ENSP00000467271	O94911		UPI0002065B1E	NM_001288985.1	deleterious(0.01)		17/40		Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF148,Superfamily_domains:SSF52540											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs145869753	.												T	3	4	63	68917412	68917412	G	T	1	0	0	0	0	1	0	0	0	42	1087	38	1		1	ABCA8	17	68917412	Missense_Mutation	SNP	G	C3N-00704_TP	5527912	68917412	14340029	546	21043											
TMEM94	0	.	GRCh38	chr17	75492507	75492507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagagcgacccctacgaaGcagaggactttgtgtgtgac	10	8	14	9	2	0	3	0	1	0	2	0	7	0	4	2	2	3	1	2	2	2	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1630G>T	p.Ala544Ser	p.A544S	ENST00000314256	15/32	77	59	18	94	94	0	strelka-varscan-mutect	TMEM94,missense_variant,p.Ala544Ser,ENST00000314256,NM_001321149.1,NM_014738.4;TMEM94,missense_variant,p.Ala554Ser,ENST00000375248,;TMEM94,missense_variant,p.Ala195Ser,ENST00000579208,;TMEM94,missense_variant,p.Ala93Ser,ENST00000578853,;TMEM94,missense_variant,p.Ala172Ser,ENST00000580918,;TMEM94,upstream_gene_variant,,ENST00000577247,;TMEM94,upstream_gene_variant,,ENST00000584694,;TMEM94,downstream_gene_variant,,ENST00000581252,;TMEM94,downstream_gene_variant,,ENST00000583795,;TMEM94,downstream_gene_variant,,ENST00000580416,;TMEM94,3_prime_UTR_variant,,ENST00000582843,;TMEM94,non_coding_transcript_exon_variant,,ENST00000585105,;TMEM94,non_coding_transcript_exon_variant,,ENST00000581085,;TMEM94,non_coding_transcript_exon_variant,,ENST00000583071,;TMEM94,non_coding_transcript_exon_variant,,ENST00000583296,;TMEM94,upstream_gene_variant,,ENST00000579898,;TMEM94,downstream_gene_variant,,ENST00000579241,;TMEM94,upstream_gene_variant,,ENST00000581453,;TMEM94,upstream_gene_variant,,ENST00000581867,;TMEM94,upstream_gene_variant,,ENST00000578624,;TMEM94,upstream_gene_variant,,ENST00000581723,;TMEM94,downstream_gene_variant,,ENST00000579707,;TMEM94,downstream_gene_variant,,ENST00000580441,;TMEM94,downstream_gene_variant,,ENST00000584383,;TMEM94,downstream_gene_variant,,ENST00000580849,;	T	ENST00000314256	Transcript	missense_variant	2024/5213	1630/4071	544/1356	A/S	Gca/Tca		1		1	TMEM94	HGNC	HGNC:28983	protein_coding	YES	CCDS32732.1	ENSP00000313885	Q12767	A0A024R8S6	UPI0000139439	NM_001321149.1,NM_014738.4	deleterious(0.02)		15/32		hmmpanther:PTHR13219,hmmpanther:PTHR13219:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	75492507	75492507	G	T	1	0	0	0	0	1	0	0	0	16697	971	34	2		2	TMEM94	17	75492507	Missense_Mutation	SNP	G	C3N-00704_TP	6575095	75492507	7764934	547	21044											
MGAT5B	0	.	GRCh38	chr17	76872832	76872832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctgccctcctgacccGcctccttcctctccgcaggc	2	10	6	23	2	1	1	0	1	1	0	6	1	5	1	9	1	1	1	9	1	0	2	rs569753276		C3N-00704_TP	C3N-00704_NB	G	G																c.83G>A	p.Arg28His	p.R28H	ENST00000428789	1/16	422	381	41	615	615	0	strelka-varscan-mutect	MGAT5B,missense_variant,p.Arg28His,ENST00000428789,NM_198955.1;MGAT5B,intron_variant,,ENST00000569840,NM_001199172.1;MGAT5B,intron_variant,,ENST00000301618,NM_144677.2;MGAT5B,intron_variant,,ENST00000565675,;MGAT5B,intron_variant,,ENST00000374998,;MGAT5B,missense_variant,p.Arg28His,ENST00000565043,;	A	ENST00000428789	Transcript	missense_variant	186/4053	83/2406	28/801	R/H	cGc/cAc	rs569753276	1		1	MGAT5B	HGNC	HGNC:24140	protein_coding	YES	CCDS45788.1	ENSP00000391227	Q3V5L5		UPI0000231C88	NM_198955.1	tolerated_low_confidence(0.08)		1/16		hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF6,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs569753276	.												A	3	1	63	76872832	76872832	G	A	1	0	0	0	0	1	0	0	0	9510	1087	38	1		1	MGAT5B	17	76872832	Missense_Mutation	SNP	G	C3N-00704_TP	1380325	76872832	6384609	548	21045											
SEC14L1	0	.	GRCh38	chr17	77196254	77196254	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcgatttgactccgctGcaggagagctgcctcattag	7	10	13	11	2	1	2	1	1	0	1	2	4	2	2	2	2	3	3	2	2	1	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.762G>T	p.=	p.L254L	ENST00000392476	10/20	168	155	13	207	207	0	strelka-varscan-mutect	SEC14L1,synonymous_variant,p.=,ENST00000436233,NM_001143999.1,NM_003003.3,NM_001143998.1;SEC14L1,synonymous_variant,p.=,ENST00000430767,NM_001204410.1;SEC14L1,synonymous_variant,p.=,ENST00000392476,NM_001204408.1;SEC14L1,synonymous_variant,p.=,ENST00000443798,NM_001039573.2;SEC14L1,synonymous_variant,p.=,ENST00000591437,;SEC14L1,synonymous_variant,p.=,ENST00000585618,;SEC14L1,synonymous_variant,p.=,ENST00000431431,NM_001144001.1;SEC14L1,synonymous_variant,p.=,ENST00000589827,;SEC14L1,downstream_gene_variant,,ENST00000588616,;SEC14L1,downstream_gene_variant,,ENST00000589202,;SEC14L1,downstream_gene_variant,,ENST00000590483,;SEC14L1,downstream_gene_variant,,ENST00000586390,;SEC14L1,downstream_gene_variant,,ENST00000591786,;CYCSP40,downstream_gene_variant,,ENST00000575927,;	T	ENST00000392476	Transcript	synonymous_variant	1321/2957	762/2160	254/719	L	ctG/ctT		1		1	SEC14L1	HGNC	HGNC:10698	protein_coding	YES	CCDS42385.1	ENSP00000376268	Q92503		UPI00006AB82A	NM_001204408.1			10/20		Gene3D:3.40.525.10,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF51,Superfamily_domains:SSF46938																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	63	77196254	77196254	G	T	1	0	0	0	0	0	0	0	1	14257	1306	46	2		2	SEC14L1	17	77196254	Silent	SNP	G	C3N-00704_TP	323422	77196254	6061187	549	21046											
PIEZO2	0	.	GRCh38	chr18	10857065	10857065	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgatcatgttgccaatgaaCtccttgagcttagaggccac	10	11	10	10	0	1	4	1	3	0	1	2	4	2	4	3	1	3	2	3	1	3	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.639G>T	p.Glu213Asp	p.E213D	ENST00000503781	6/52	366	293	73	476	475	1	strelka-varscan-mutect	PIEZO2,missense_variant,p.Glu162Asp,ENST00000383408,;PIEZO2,missense_variant,p.Glu213Asp,ENST00000302079,;PIEZO2,missense_variant,p.Glu213Asp,ENST00000580640,;PIEZO2,missense_variant,p.Glu213Asp,ENST00000503781,NM_022068.3;PIEZO2,upstream_gene_variant,,ENST00000579112,;PIEZO2,non_coding_transcript_exon_variant,,ENST00000579899,;PIEZO2,missense_variant,p.Glu213Asp,ENST00000582913,;	A	ENST00000503781	Transcript	missense_variant	639/8259	639/8259	213/2752	E/D	gaG/gaT		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3	deleterious(0.02)		6/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24																	MODERATE	1	SNV	1			1										PASS		rs1424044033	.												A	3	1	63	10857065	10857065	C	A	1	0	0	0	0	1	0	0	0	11975	564	20	2		2	PIEZO2	18	10857065	Missense_Mutation	SNP	C	C3N-00704_TP		10857065	69516220	550	21047											
ROCK1	0	.	GRCh38	chr18	21042595	21042595	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcgtataaaaataccccaaCcgaccaccagtcacattctc	14	9	3	15	2	2	0	1	0	1	0	4	1	2	0	5	0	2	1	5	0	6	5	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.790G>T	p.Val264Phe	p.V264F	ENST00000399799	7/33	135	100	35	234	234	0	strelka-varscan-mutect	ROCK1,missense_variant,p.Val264Phe,ENST00000399799,NM_005406.2;ROCK1,missense_variant,p.Val264Phe,ENST00000635540,;ROCK1,downstream_gene_variant,,ENST00000582445,;	A	ENST00000399799	Transcript	missense_variant	1731/9484	790/4065	264/1354	V/F	Gtt/Ttt		1		-1	ROCK1	HGNC	HGNC:10251	protein_coding	YES	CCDS11870.2	ENSP00000382697	Q13464		UPI000006F0A4	NM_005406.2	deleterious(0)		7/33		PROSITE_profiles:PS50011,hmmpanther:PTHR22988:SF33,hmmpanther:PTHR22988,Gene3D:1.10.510.10,PIRSF_domain:PIRSF037568,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	21042595	21042595	C	A	1	0	0	0	0	1	0	0	0	13695	507	18	2		2	ROCK1	18	21042595	Missense_Mutation	SNP	C	C3N-00704_TP	10185530	21042595	59330690	551	21048											
KLHL14	0	.	GRCh38	chr18	32741995	32741995	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgctggggagccggtcCggtccaggaggcagccctcc	7	6	15	13	2	0	0	0	0	0	0	3	2	3	2	5	6	3	2	5	6	1	1	rs369873078		C3N-00704_TP	C3N-00704_NB	C	C																c.1002G>C	p.=	p.P334P	ENST00000359358	3/9	175	136	39	250	250	0	strelka-varscan-mutect	KLHL14,synonymous_variant,p.=,ENST00000359358,NM_020805.1;KLHL14,synonymous_variant,p.=,ENST00000358095,;	G	ENST00000359358	Transcript	synonymous_variant	1441/4312	1002/1887	334/628	P	ccG/ccC	rs369873078	1		-1	KLHL14	HGNC	HGNC:29266	protein_coding	YES	CCDS32813.1	ENSP00000352314	Q9P2G3		UPI00001C1FF2	NM_020805.1			3/9		Superfamily_domains:0052715,Gene3D:1zgkA00,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF60,Low_complexity_(Seg):seg,SMART_domains:SM00612																	LOW	1	SNV	1			1										PASS		rs369873078	.												G	2	3	63	32741995	32741995	C	G	1	0	0	0	0	0	0	0	1	8234	639	23	4		4	KLHL14	18	32741995	Silent	SNP	C	C3N-00704_TP	11699400	32741995	47631290	552	21049											
CDH7	0	.	GRCh38	chr18	65814555	65814555	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaacagtgccagagtggtCtacagtattctgcaaggaca	12	8	12	9	0	2	1	0	0	2	1	2	2	2	2	1	3	4	3	1	3	4	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.576C>T	p.=	p.V192V	ENST00000397968	4/12	267	216	51	316	316	0	strelka-varscan-mutect	CDH7,synonymous_variant,p.=,ENST00000397968,NM_004361.2;CDH7,synonymous_variant,p.=,ENST00000536984,NM_001317214.1;CDH7,synonymous_variant,p.=,ENST00000323011,NM_033646.1;	T	ENST00000397968	Transcript	synonymous_variant	1002/12231	576/2358	192/785	V	gtC/gtT		1		1	CDH7	HGNC	HGNC:1766	protein_coding	YES	CCDS11993.1	ENSP00000381058	Q9ULB5		UPI000013D269	NM_004361.2			4/12		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	63	65814555	65814555	C	T	1	0	0	0	0	0	0	0	1	2818	900	32	3		3	CDH7	18	65814555	Silent	SNP	C	C3N-00704_TP	33072560	65814555	14558730	553	21050											
CDH7	0	.	GRCh38	chr18	65844061	65844061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattcttccaatagccctGtgaggtaaaaactcattgtt	12	13	7	9	0	2	2	1	1	1	1	3	2	3	2	2	1	2	2	2	1	5	6	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1231G>T	p.Val411Leu	p.V411L	ENST00000397968	7/12	212	177	35	317	317	0	strelka-varscan-mutect	CDH7,missense_variant,p.Val411Leu,ENST00000397968,NM_004361.2;CDH7,missense_variant,p.Val411Leu,ENST00000536984,NM_001317214.1;CDH7,missense_variant,p.Val411Leu,ENST00000323011,NM_033646.1;	T	ENST00000397968	Transcript	missense_variant	1657/12231	1231/2358	411/785	V/L	Gtg/Ttg		1		1	CDH7	HGNC	HGNC:1766	protein_coding	YES	CCDS11993.1	ENSP00000381058	Q9ULB5		UPI000013D269	NM_004361.2	deleterious(0.04)		7/12		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	65844061	65844061	G	T	1	0	0	0	0	1	0	0	0	2818	1391	48	2		2	CDH7	18	65844061	Missense_Mutation	SNP	G	C3N-00704_TP	29506	65844061	14529224	554	21051											
ZNF236	0	.	GRCh38	chr18	76880206	76880206	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcggtgagcgacgtcAtccagcagctcctggagctc	7	6	13	15	3	1	1	1	1	0	0	4	3	3	2	3	3	4	3	3	3	0	0	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.1078A>T	p.Ile360Phe	p.I360F	ENST00000320610	8/31	245	201	44	361	361	0	strelka-varscan-mutect	ZNF236,missense_variant,p.Ile358Phe,ENST00000253159,NM_007345.3;ZNF236,missense_variant,p.Ile360Phe,ENST00000320610,NM_001306089.1;ZNF236,missense_variant,p.Ile358Phe,ENST00000579322,;ZNF236,downstream_gene_variant,,ENST00000583095,;ZNF236,missense_variant,p.Ile358Phe,ENST00000543926,;ZNF236,upstream_gene_variant,,ENST00000583488,;RP11-162A12.3,downstream_gene_variant,,ENST00000583058,;	T	ENST00000320610	Transcript	missense_variant	1079/7124	1078/5544	360/1847	I/F	Atc/Ttc		1		1	ZNF236	HGNC	HGNC:13028	protein_coding	YES	CCDS77201.1	ENSP00000322361		J9JID5	UPI000268B415	NM_001306089.1	deleterious(0.05)		8/31		hmmpanther:PTHR24396:SF21,hmmpanther:PTHR24396																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	76880206	76880206	A	T	1	0	0	0	0	1	0	0	0	18366	217	8	4		4	ZNF236	18	76880206	Missense_Mutation	SNP	A	C3N-00704_TP	11036145	76880206	3493079	555	21052											
MED16	0	.	GRCh38	chr19	873481	873481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccagcaggtacagcaCgaagtcgcccacccactgca	10	4	11	16	2	0	0	0	0	0	0	1	1	0	0	3	2	4	5	3	2	2	1	rs757761207		C3N-00704_TP	C3N-00704_NB	C	C																c.1873G>T	p.Val625Leu	p.V625L	ENST00000325464	11/16	102	83	19	152	152	0	strelka-varscan-mutect	MED16,missense_variant,p.Val625Leu,ENST00000395808,;MED16,missense_variant,p.Val625Leu,ENST00000312090,;MED16,missense_variant,p.Val625Leu,ENST00000325464,NM_005481.2;MED16,missense_variant,p.Val625Leu,ENST00000589119,;MED16,missense_variant,p.Val379Leu,ENST00000607471,;MED16,intron_variant,,ENST00000269814,;MED16,intron_variant,,ENST00000616387,;MED16,intron_variant,,ENST00000617672,;MED16,downstream_gene_variant,,ENST00000592943,;MED16,downstream_gene_variant,,ENST00000586017,;MED16,downstream_gene_variant,,ENST00000606828,;MED16,upstream_gene_variant,,ENST00000621073,;MED16,missense_variant,p.Val625Leu,ENST00000606248,;	A	ENST00000325464	Transcript	missense_variant	2024/2922	1873/2634	625/877	V/L	Gtg/Ttg	rs757761207	1		-1	MED16	HGNC	HGNC:17556	protein_coding	YES	CCDS12047.1	ENSP00000325612	Q9Y2X0		UPI0000141671	NM_005481.2	tolerated(0.07)		11/16		Pfam_domain:PF11635,hmmpanther:PTHR13224,hmmpanther:PTHR13224:SF6																	MODERATE	1	SNV	5			1										PASS		rs757761207	.												A	3	1	63	873481	873481	C	A	1	0	0	0	0	1	0	0	0	9373	536	19	1		1	MED16	19	873481	Missense_Mutation	SNP	C	C3N-00704_TP		873481	57744135	556	21053											
APC2	0	.	GRCh38	chr19	1468035	1468035	+	Silent	SNP	C	C	A																															gagaccccgccctgctactcCctgagctcctccgccagctc																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.4734C>A	p.=	p.S1578S	ENST00000535453	14/14	191	161	30	310	310	0	strelka-varscan-mutect	APC2,synonymous_variant,p.=,ENST00000535453,;APC2,synonymous_variant,p.=,ENST00000233607,NM_005883.2;C19orf25,intron_variant,,ENST00000588427,;APC2,downstream_gene_variant,,ENST00000238483,;APC2,downstream_gene_variant,,ENST00000590469,;APC2,downstream_gene_variant,,ENST00000593146,;	A	ENST00000535453	Transcript	synonymous_variant	6447/11656	4734/6912	1578/2303	S	tcC/tcA		1		1	APC2	HGNC	HGNC:24036	protein_coding	YES	CCDS12068.1	ENSP00000442954	O95996		UPI0000073D85				14/14		Low_complexity_(Seg):seg,hmmpanther:PTHR12607:SF3,hmmpanther:PTHR12607																	LOW	1	SNV	1			1										PASS		rs1378360128	.												A	2	1	63	1468035	1468035	C	A	1	0	0	0	0	0	0	0	1	884	610	22	2		2	APC2	19	1468035	Silent	SNP	C	C3N-00704_TP	594554	1468035	57149581	557	21054	447	2									
APC2	0	.	GRCh38	chr19	1468036	1468036	+	Missense_Mutation	SNP	C	C	A																															agaccccgccctgctactccCtgagctcctccgccagctcc																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.4735C>A	p.Leu1579Met	p.L1579M	ENST00000535453	14/14	192	163	29	309	309	0	strelka-varscan-mutect	APC2,missense_variant,p.Leu1579Met,ENST00000535453,;APC2,missense_variant,p.Leu1579Met,ENST00000233607,NM_005883.2;C19orf25,intron_variant,,ENST00000588427,;APC2,downstream_gene_variant,,ENST00000238483,;APC2,downstream_gene_variant,,ENST00000590469,;APC2,downstream_gene_variant,,ENST00000593146,;	A	ENST00000535453	Transcript	missense_variant	6448/11656	4735/6912	1579/2303	L/M	Ctg/Atg		1		1	APC2	HGNC	HGNC:24036	protein_coding	YES	CCDS12068.1	ENSP00000442954	O95996		UPI0000073D85		deleterious(0)		14/14		Low_complexity_(Seg):seg,hmmpanther:PTHR12607:SF3,hmmpanther:PTHR12607																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	1468036	1468036	C	A	1	0	0	0	0	1	0	0	0	884	680	24	2		2	APC2	19	1468036	Missense_Mutation	SNP	C	C3N-00704_TP	1	1468036	57149580	558	21055	447	2									
DOT1L	0	.	GRCh38	chr19	2214489	2214489	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctcaaggctcgctgcgagGagctgcagctggactgggcc	7	6	16	12	2	1	0	1	0	0	0	2	3	1	2	1	4	5	6	1	4	1	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1816G>T	p.Glu606Ter	p.E606*	ENST00000398665	19/28	136	97	39	208	208	0	strelka-varscan-mutect	DOT1L,stop_gained,p.Glu606Ter,ENST00000398665,NM_032482.2;DOT1L,stop_gained,p.Glu70Ter,ENST00000586024,;AC004490.1,non_coding_transcript_exon_variant,,ENST00000585593,;DOT1L,non_coding_transcript_exon_variant,,ENST00000608122,;DOT1L,non_coding_transcript_exon_variant,,ENST00000591498,;DOT1L,upstream_gene_variant,,ENST00000482433,;	T	ENST00000398665	Transcript	stop_gained	1852/7436	1816/4614	606/1537	E/*	Gag/Tag		1		1	DOT1L	HGNC	HGNC:24948	protein_coding	YES	CCDS42460.1	ENSP00000381657	Q8TEK3		UPI000002A839	NM_032482.2			19/28		hmmpanther:PTHR21451,hmmpanther:PTHR21451:SF0,PIRSF_domain:PIRSF037123																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	63	2214489	2214489	G	T	1	0	0	0	0	0	1	0	0	4523	1175	41	2		2	DOT1L	19	2214489	Nonsense_Mutation	SNP	G	C3N-00704_TP	746453	2214489	56403127	559	21056											
CCDC94	0	.	GRCh38	chr19	4251093	4251093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcggaaggagacggtgcaGaacgaggtctacctgggcct	9	6	16	10	3	1	2	0	0	1	2	2	5	1	3	2	5	3	2	2	5	3	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.192G>T	p.Gln64His	p.Q64H	ENST00000262962	3/8	235	174	61	286	285	1	strelka-varscan-mutect	CCDC94,missense_variant,p.Gln64His,ENST00000262962,NM_018074.4;CCDC94,missense_variant,p.Gln29His,ENST00000596496,;AC005578.3,upstream_gene_variant,,ENST00000622962,;	T	ENST00000262962	Transcript	missense_variant	260/1434	192/972	64/323	Q/H	caG/caT		1		1	CCDC94	HGNC	HGNC:25518	protein_coding	YES	CCDS12124.1	ENSP00000262962	Q9BW85		UPI000006CF6B	NM_018074.4	deleterious(0)		3/8		Pfam_domain:PF04502,hmmpanther:PTHR12111,hmmpanther:PTHR12111:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	4251093	4251093	G	T	1	0	0	0	0	1	0	0	0	2571	933	33	2		2	CCDC94	19	4251093	Missense_Mutation	SNP	G	C3N-00704_TP	2036604	4251093	54366523	560	21057											
SEMA6B	0	.	GRCh38	chr19	4552528	4552528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagaaatgggagtctccggGtacagagcagttgagccgcg	10	7	16	8	3	1	3	0	1	1	2	2	4	1	4	2	2	3	4	2	2	3	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.883C>A	p.Pro295Thr	p.P295T	ENST00000586582	10/17	219	173	46	349	349	0	strelka-varscan-mutect	SEMA6B,missense_variant,p.Pro295Thr,ENST00000586582,NM_032108.3;SEMA6B,missense_variant,p.Pro295Thr,ENST00000586965,;	T	ENST00000586582	Transcript	missense_variant	1194/3986	883/2667	295/888	P/T	Ccc/Acc		1		-1	SEMA6B	HGNC	HGNC:10739	protein_coding	YES	CCDS12131.1	ENSP00000467290	Q9H3T3		UPI000004BA6B	NM_032108.3	deleterious(0.01)		10/17		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF10,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	4552528	4552528	G	T	1	0	0	0	0	1	0	0	0	14316	1261	44	2		2	SEMA6B	19	4552528	Missense_Mutation	SNP	G	C3N-00704_TP	301435	4552528	54065088	561	21058											
ADAMTS10	0	.	GRCh38	chr19	8586381	8586381	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacttggtccagggcgcAtagtgccaggagtagggggg	8	6	19	8	1	0	0	0	0	0	0	1	2	1	1	2	6	2	3	2	6	2	3	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.2493T>G	p.Tyr831Ter	p.Y831*	ENST00000270328	20/25	242	192	50	344	343	1	strelka-varscan-mutect	ADAMTS10,stop_gained,p.Tyr831Ter,ENST00000270328,;ADAMTS10,stop_gained,p.Tyr831Ter,ENST00000597188,NM_030957.3;ADAMTS10,stop_gained,p.Tyr318Ter,ENST00000595838,NM_001282352.1;AC130469.2,downstream_gene_variant,,ENST00000597256,;ADAMTS10,3_prime_UTR_variant,,ENST00000596851,;ADAMTS10,3_prime_UTR_variant,,ENST00000593913,;ADAMTS10,downstream_gene_variant,,ENST00000603221,;ADAMTS10,downstream_gene_variant,,ENST00000593826,;ADAMTS10,downstream_gene_variant,,ENST00000596911,;ADAMTS10,downstream_gene_variant,,ENST00000596236,;	C	ENST00000270328	Transcript	stop_gained	2724/4194	2493/3312	831/1103	Y/*	taT/taG		1		-1	ADAMTS10	HGNC	HGNC:13201	protein_coding	YES	CCDS12206.1	ENSP00000270328		A0A0A0MQW6	UPI00025D3090				20/25		Gene3D:2.20.100.10,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF26,SMART_domains:SM00209,Superfamily_domains:SSF82895																	HIGH	1	SNV	5			1										PASS		.	.												C	4	2	63	8586381	8586381	A	C	1	0	0	0	0	0	1	0	0	300	224	8	5		5	ADAMTS10	19	8586381	Nonsense_Mutation	SNP	A	C3N-00704_TP	4033853	8586381	50031235	562	21059											
MUC16	0	.	GRCh38	chr19	8958269	8958269	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccagggtcagttggccAagagatgtcaccccagaagg	10	7	14	10	0	2	2	2	0	0	2	3	3	3	2	4	3	0	1	4	3	2	1	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.18501T>C	p.=	p.L6167L	ENST00000397910	3/84	130	90	40	171	171	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	G	ENST00000397910	Transcript	synonymous_variant	18705/43816	18501/43524	6167/14507	L	ctT/ctC		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			LOW	1	SNV	5			1										PASS		.	.												G	2	3	63	8958269	8958269	A	G	1	0	0	0	0	0	0	0	1	9972	117	5	5		5	MUC16	19	8958269	Silent	SNP	A	C3N-00704_TP	371888	8958269	49659347	563	21060											
MUC16	0	.	GRCh38	chr19	8965457	8965457	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcaactgtgaggtagcTgggctgatcatggtttccaa	10	10	14	7	0	1	2	1	2	0	0	2	2	2	2	1	4	2	5	1	4	4	2	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.11313A>T	p.=	p.P3771P	ENST00000397910	3/84	100	74	26	123	123	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	A	ENST00000397910	Transcript	synonymous_variant	11517/43816	11313/43524	3771/14507	P	ccA/ccT		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	63	8965457	8965457	T	A	1	0	0	0	0	0	0	0	1	9972	1567	55	4		4	MUC16	19	8965457	Silent	SNP	T	C3N-00704_TP	7188	8965457	49652159	564	21061											
OR7E24	0	.	GRCh38	chr19	9251566	9251566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattagtcttttggactccCagttgcacaatttgattatg	9	18	7	7	0	1	1	0	1	1	0	2	2	2	2	1	1	1	2	1	1	4	7			C3N-00704_TP	C3N-00704_NB	C	C																c.523C>A	p.Gln175Lys	p.Q175K	ENST00000456448	1/1	154	124	30	255	255	0	strelka-varscan-mutect	OR7E24,missense_variant,p.Gln175Lys,ENST00000456448,NM_001079935.1;	A	ENST00000456448	Transcript	missense_variant	637/1550	523/1020	175/339	Q/K	Cag/Aag	COSM1286907	1		1	OR7E24	HGNC	HGNC:8396	protein_coding	YES	CCDS45955.1	ENSP00000387523	Q6IFN5		UPI00003B2886	NM_001079935.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF173,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		rs1290162377	.												A	3	1	63	9251566	9251566	C	A	1	0	0	0	0	1	0	0	0	11291	595	21	2		2	OR7E24	19	9251566	Missense_Mutation	SNP	C	C3N-00704_TP	286109	9251566	49366050	565	21062											
ZNF564	0	.	GRCh38	chr19	12528604	12528604	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctaaaggtttcccgcatCacatctctgtagagtttctt	8	17	6	10	1	4	1	1	0	3	1	6	1	5	1	1	1	0	4	1	1	3	6	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.96G>A	p.=	p.V32V	ENST00000339282	2/4	158	126	32	213	213	0	strelka-varscan-mutect	ZNF564,synonymous_variant,p.=,ENST00000339282,NM_144976.3;ZNF564,5_prime_UTR_variant,,ENST00000596193,;CTD-2192J16.17,intron_variant,,ENST00000428311,;CTD-2192J16.21,downstream_gene_variant,,ENST00000601420,;CTD-2192J16.20,3_prime_UTR_variant,,ENST00000593682,;ZNF564,3_prime_UTR_variant,,ENST00000427105,;	T	ENST00000339282	Transcript	synonymous_variant	293/2935	96/1662	32/553	V	gtG/gtA		1		-1	ZNF564	HGNC	HGNC:31106	protein_coding	YES	CCDS42505.1	ENSP00000340004	Q8TBZ8		UPI0000051C17	NM_144976.3			2/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF10,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	63	12528604	12528604	C	T	1	0	0	0	0	0	0	0	1	18569	813	29	3		3	ZNF564	19	12528604	Silent	SNP	C	C3N-00704_TP	3277038	12528604	46089012	566	21063											
HOOK2	0	.	GRCh38	chr19	12771397	12771397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccacctagggccctacCtgccgctccagatccagaca	8	6	8	19	1	0	2	0	0	0	2	2	2	2	2	8	1	3	1	8	1	2	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.600G>T	p.Gln200His	p.Q200H	ENST00000397668	8/23	178	141	37	233	233	0	strelka-varscan-mutect	HOOK2,missense_variant,p.Gln200His,ENST00000264827,NM_001100176.1;HOOK2,missense_variant,p.Gln200His,ENST00000397668,NM_013312.2;HOOK2,missense_variant,p.Gln127His,ENST00000589400,;HOOK2,missense_variant,p.Gln127His,ENST00000592079,;HOOK2,missense_variant,p.Gln127His,ENST00000590839,;HOOK2,missense_variant,p.Gln127His,ENST00000588052,;HOOK2,downstream_gene_variant,,ENST00000587178,;HOOK2,intron_variant,,ENST00000589965,;HOOK2,downstream_gene_variant,,ENST00000587964,;HOOK2,downstream_gene_variant,,ENST00000589765,;HOOK2,splice_region_variant,,ENST00000586284,;HOOK2,splice_region_variant,,ENST00000586719,;HOOK2,intron_variant,,ENST00000586188,;HOOK2,upstream_gene_variant,,ENST00000592259,;HOOK2,downstream_gene_variant,,ENST00000592808,;HOOK2,downstream_gene_variant,,ENST00000591251,;HOOK2,downstream_gene_variant,,ENST00000589134,;HOOK2,upstream_gene_variant,,ENST00000591839,;HOOK2,downstream_gene_variant,,ENST00000591641,;HOOK2,upstream_gene_variant,,ENST00000589398,;HOOK2,downstream_gene_variant,,ENST00000593143,;HOOK2,downstream_gene_variant,,ENST00000592512,;	A	ENST00000397668	Transcript	missense_variant,splice_region_variant	674/2513	600/2160	200/719	Q/H	caG/caT		1		-1	HOOK2	HGNC	HGNC:19885	protein_coding	YES	CCDS42508.1	ENSP00000380785	Q96ED9		UPI00003D0BC0	NM_013312.2	deleterious(0)		8/23		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05622,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF37																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	12771397	12771397	C	A	1	0	0	0	0	1	0	0	0	7177	695	24	2		2	HOOK2	19	12771397	Missense_Mutation	SNP	C	C3N-00704_TP	242793	12771397	45846219	567	21064											
B3GNT3	0	.	GRCh38	chr19	17811964	17811964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcggcatccgcacgtctGgcgtgcgggctccatcgcaa	7	6	13	15	6	1	0	0	0	1	0	4	0	3	0	2	3	2	4	2	3	1	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.961G>T	p.Gly321Cys	p.G321C	ENST00000318683	3/3	304	262	42	324	322	2	strelka-varscan-mutect	B3GNT3,missense_variant,p.Gly321Cys,ENST00000318683,NM_014256.3;B3GNT3,missense_variant,p.Gly321Cys,ENST00000595387,;INSL3,downstream_gene_variant,,ENST00000379695,NM_001265587.1;B3GNT3,downstream_gene_variant,,ENST00000599265,;INSL3,downstream_gene_variant,,ENST00000598577,;INSL3,downstream_gene_variant,,ENST00000317306,NM_005543.3;B3GNT3,downstream_gene_variant,,ENST00000600777,;	T	ENST00000318683	Transcript	missense_variant	1108/2226	961/1119	321/372	G/C	Ggc/Tgc		1		1	B3GNT3	HGNC	HGNC:13528	protein_coding	YES	CCDS12364.1	ENSP00000321874	Q9Y2A9		UPI000007021E	NM_014256.3	deleterious(0)		3/3		hmmpanther:PTHR11214:SF23,hmmpanther:PTHR11214																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	17811964	17811964	G	T	1	0	0	0	0	1	0	0	0	1414	1348	47	2		2	B3GNT3	19	17811964	Missense_Mutation	SNP	G	C3N-00704_TP	5040567	17811964	40805652	568	21065											
NCAN	0	.	GRCh38	chr19	19226499	19226499	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagctcatcaccccacGtcacaacatggagacctaga	13	5	6	17	1	3	2	3	0	0	2	3	3	3	2	4	1	2	1	4	1	2	1	rs771429364		C3N-00704_TP	C3N-00704_NB	G	G																c.1086G>C	p.=	p.T362T	ENST00000252575	7/15	54	50	4	43	43	0	strelka-mutect	NCAN,synonymous_variant,p.=,ENST00000252575,NM_004386.2;NCAN,upstream_gene_variant,,ENST00000590187,;	C	ENST00000252575	Transcript	synonymous_variant	1185/6387	1086/3966	362/1321	T	acG/acC	rs771429364	1		1	NCAN	HGNC	HGNC:2465	protein_coding	YES	CCDS12397.1	ENSP00000252575	O14594	A0A024R7M3	UPI000013CD70	NM_004386.2			7/15		hmmpanther:PTHR22804:SF24,hmmpanther:PTHR22804,Superfamily_domains:SSF56436																	LOW	1	SNV	1			1										PASS		rs771429364	.												C	2	2	63	19226499	19226499	G	C	1	0	0	0	0	0	0	0	1	10220	1132	40	4		4	NCAN	19	19226499	Silent	SNP	G	C3N-00704_TP	1414535	19226499	39391117	569	21066											
ZNF676	0	.	GRCh38	chr19	22181200	22181200	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaaagctttgccattttCttcacatttgtaggaattct	10	18	6	7	0	3	0	1	0	2	0	3	1	3	1	1	1	2	3	1	1	4	8	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.517G>T	p.Glu173Ter	p.E173*	ENST00000397121	3/3	94	82	12	222	222	0	strelka-varscan-mutect	ZNF676,stop_gained,p.Glu173Ter,ENST00000397121,NM_001001411.2;	A	ENST00000397121	Transcript	stop_gained	835/2944	517/1767	173/588	E/*	Gaa/Taa		1		-1	ZNF676	HGNC	HGNC:20429	protein_coding	YES	CCDS42539.1	ENSP00000380310	Q8N7Q3		UPI00002376EC	NM_001001411.2			3/3		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,Superfamily_domains:SSF57667																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	63	22181200	22181200	C	A	1	0	0	0	0	0	1	0	0	18656	922	32	2		2	ZNF676	19	22181200	Nonsense_Mutation	SNP	C	C3N-00704_TP	2954701	22181200	36436416	570	21067											
ZNF729	0	.	GRCh38	chr19	22315681	22315681	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttaagcatttctcagcccTtagaaaacataaggtaattc	14	14	5	8	0	1	1	1	0	1	1	3	1	1	1	1	1	3	2	1	1	6	7	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.2264T>A	p.Leu755His	p.L755H	ENST00000601693	4/4	155	132	23	363	363	0	strelka-varscan-mutect	ZNF729,missense_variant,p.Leu755His,ENST00000601693,NM_001242680.1;	A	ENST00000601693	Transcript	missense_variant	2382/3877	2264/3759	755/1252	L/H	cTt/cAt		1		1	ZNF729	HGNC	HGNC:32464	protein_coding	YES	CCDS59368.1	ENSP00000469582	A6NN14		UPI000042600C	NM_001242680.1	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	63	22315681	22315681	T	A	1	0	0	0	0	1	0	0	0	18703	1609	56	4		4	ZNF729	19	22315681	Missense_Mutation	SNP	T	C3N-00704_TP	134481	22315681	36301935	571	21068											
ZNF536	0	.	GRCh38	chr19	30444095	30444095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacctcaagattcacctgcGgacccacaagctgggcaacc	12	5	9	15	1	2	1	2	0	0	1	2	3	2	2	4	2	4	2	4	2	4	1			C3N-00704_TP	C3N-00704_NB	G	G																c.533G>A	p.Arg178Gln	p.R178Q	ENST00000355537	2/5	201	152	49	297	297	0	strelka-mutect	ZNF536,missense_variant,p.Arg178Gln,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.Arg178Gln,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;	A	ENST00000355537	Transcript	missense_variant	680/4945	533/3903	178/1300	R/Q	cGg/cAg	COSM5273204	1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	deleterious(0)		2/5		Gene3D:3.30.160.60,Pfam_domain:PF13909,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	63	30444095	30444095	G	A	1	0	0	0	0	1	0	0	0	18547	1116	39	1		1	ZNF536	19	30444095	Missense_Mutation	SNP	G	C3N-00704_TP	8128414	30444095	28173521	572	21069											
ARHGAP33	0	.	GRCh38	chr19	35778309	35778309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagaccgtgaagggccCagcctctctggagagaatga	10	7	12	12	1	2	4	0	2	2	2	4	6	2	5	4	2	1	0	4	2	2	0	rs755736461		C3N-00704_TP	C3N-00704_NB	C	C																c.219C>T	p.=	p.P73P	ENST00000314737	4/21	238	190	48	286	286	0	strelka-varscan-mutect	ARHGAP33,synonymous_variant,p.=,ENST00000314737,NM_052948.3;ARHGAP33,synonymous_variant,p.=,ENST00000007510,;ARHGAP33,5_prime_UTR_variant,,ENST00000378944,NM_001172630.1;ARHGAP33,upstream_gene_variant,,ENST00000587447,;ARHGAP33,upstream_gene_variant,,ENST00000588248,;ARHGAP33,non_coding_transcript_exon_variant,,ENST00000221905,;ARHGAP33,non_coding_transcript_exon_variant,,ENST00000589133,;ARHGAP33,upstream_gene_variant,,ENST00000591438,;ARHGAP33,synonymous_variant,p.=,ENST00000590893,;ARHGAP33,upstream_gene_variant,,ENST00000601474,;ARHGAP33,upstream_gene_variant,,ENST00000586918,;	T	ENST00000314737	Transcript	synonymous_variant	303/3858	219/3381	73/1126	P	ccC/ccT	rs755736461	1		1	ARHGAP33	HGNC	HGNC:23085	protein_coding	YES	CCDS12477.1	ENSP00000320038	O14559		UPI000013F8F9	NM_052948.3			4/21		hmmpanther:PTHR15729:SF11,hmmpanther:PTHR15729																	LOW	1	SNV	2			1										PASS		rs755736461	.												T	2	4	63	35778309	35778309	C	T	1	0	0	0	0	0	0	0	1	1007	581	21	3		3	ARHGAP33	19	35778309	Silent	SNP	C	C3N-00704_TP	5334214	35778309	22839307	573	21070											
ZNF607	0	.	GRCh38	chr19	37699080	37699080	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtatgaggtgcagtaagttGatggccactactaaaagcct	12	11	11	7	0	0	2	0	2	0	0	0	2	0	2	2	2	3	4	2	2	5	5	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1051C>T	p.Gln351Ter	p.Q351*	ENST00000355202	5/5	144	134	10	217	217	0	strelka-varscan-mutect	ZNF607,stop_gained,p.Gln351Ter,ENST00000355202,NM_032689.4;ZNF607,stop_gained,p.Gln350Ter,ENST00000395835,NM_001172677.1;ZNF607,downstream_gene_variant,,ENST00000591664,;ZNF607,downstream_gene_variant,,ENST00000590670,;CTD-2528L19.4,intron_variant,,ENST00000586606,;CTD-2528L19.4,intron_variant,,ENST00000585547,;CTD-2528L19.4,intron_variant,,ENST00000591114,;ZNF607,downstream_gene_variant,,ENST00000586559,;	A	ENST00000355202	Transcript	stop_gained	1647/4364	1051/2091	351/696	Q/*	Caa/Taa		1		-1	ZNF607	HGNC	HGNC:28192	protein_coding	YES	CCDS33006.1	ENSP00000347338	Q96SK3		UPI000040BC07	NM_032689.4			5/5		Superfamily_domains:SSF57667																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	63	37699080	37699080	G	A	1	0	0	0	0	0	1	0	0	18608	1299	45	3		3	ZNF607	19	37699080	Nonsense_Mutation	SNP	G	C3N-00704_TP	1920771	37699080	20918536	574	21071											
FBL	0	.	GRCh38	chr19	39840436	39840436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgccgatgcggctccacCatcacattcttccccgactg	7	10	7	17	3	3	0	2	0	1	0	5	2	5	0	5	1	2	1	5	1	0	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.261G>T	p.Met87Ile	p.M87I	ENST00000221801	3/9	204	149	55	251	251	0	strelka-varscan-mutect	FBL,missense_variant,p.Met87Ile,ENST00000221801,NM_001436.3;FBL,missense_variant,p.Met2Ile,ENST00000595545,;FBL,missense_variant,p.Met63Ile,ENST00000601274,;FBL,missense_variant,p.Met25Ile,ENST00000597224,;FBL,missense_variant,p.Met50Ile,ENST00000597634,;FBL,missense_variant,p.Met86Ile,ENST00000594309,;FBL,missense_variant,p.Met74Ile,ENST00000598417,;FBL,missense_variant,p.Met74Ile,ENST00000599134,;FBL,missense_variant,p.Met27Ile,ENST00000626009,;FBL,upstream_gene_variant,,ENST00000593503,;FBL,missense_variant,p.Met30Ile,ENST00000594443,;FBL,non_coding_transcript_exon_variant,,ENST00000599159,;	A	ENST00000221801	Transcript	missense_variant	375/1160	261/966	87/321	M/I	atG/atT		1		-1	FBL	HGNC	HGNC:3599	protein_coding	YES	CCDS12545.1	ENSP00000221801	P22087		UPI000012A578	NM_001436.3	tolerated(0.95)		3/9		Gene3D:3.30.200.20,hmmpanther:PTHR10335,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	39840436	39840436	C	A	1	0	0	0	0	1	0	0	0	5558	594	21	2		2	FBL	19	39840436	Missense_Mutation	SNP	C	C3N-00704_TP	2141356	39840436	18777180	575	21072											
PSG6	0	.	GRCh38	chr19	42910579	42910579	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaacagaagatactcaCggaggagattcagggtgact	15	6	14	6	1	2	5	2	1	0	4	2	8	2	7	0	4	2	0	0	4	3	2	rs149746924		C3N-00704_TP	C3N-00704_NB	C	C																c.706+1G>T		p.X236_splice	ENST00000292125		217	194	23	298	298	0	strelka-varscan-mutect	PSG6,splice_donor_variant,,ENST00000187910,NM_001031850.3;PSG6,splice_donor_variant,,ENST00000402603,;PSG6,splice_donor_variant,,ENST00000292125,NM_002782.4;PSG6,splice_donor_variant,,ENST00000594375,;PSG7,intron_variant,,ENST00000617049,;PSG6,downstream_gene_variant,,ENST00000601833,;PSG6,splice_donor_variant,,ENST00000599753,;PSG6,splice_donor_variant,,ENST00000595062,;PSG6,non_coding_transcript_exon_variant,,ENST00000402456,;PSG6,non_coding_transcript_exon_variant,,ENST00000484292,;	A	ENST00000292125	Transcript	splice_donor_variant	-/1391	706/1308	236/435			rs149746924	1		-1	PSG6	HGNC	HGNC:9523	protein_coding	YES	CCDS12613.1	ENSP00000292125	Q00889		UPI00001327A1	NM_002782.4				3/5																		HIGH	1	SNV	1			1										PASS		rs149746924	.												A	5	1	63	42910579	42910579	C	A	1	0	0	0	0	0	0	1	0	12810	550	19	1		1	PSG6	19	42910579	Splice_Site	SNP	C	C3N-00704_TP	3070143	42910579	15707037	576	21073											
PSG4	0	.	GRCh38	chr19	43194575	43194575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggtgaatgaagggtaaatGctggggaggtctggaccatc	11	9	16	5	0	1	2	0	2	1	0	2	4	1	4	1	6	1	2	1	6	5	2	rs769133726		C3N-00704_TP	C3N-00704_NB	G	G																c.1008C>A	p.Ser336Arg	p.S336R	ENST00000405312	5/6	96	75	21	139	139	0	strelka-varscan-mutect	PSG4,missense_variant,p.Ser336Arg,ENST00000405312,NM_002780.4;PSG4,missense_variant,p.Ser243Arg,ENST00000433626,NM_001276495.1;PSG4,missense_variant,p.Ser243Arg,ENST00000244295,NM_213633.2;PSG4,missense_variant,p.Ser214Arg,ENST00000596907,;PSG4,missense_variant,p.Ser128Arg,ENST00000597374,;PSG4,missense_variant,p.Ser222Arg,ENST00000599746,;PSG4,missense_variant,p.Ser121Arg,ENST00000599391,;PSG4,downstream_gene_variant,,ENST00000451895,;PSG4,downstream_gene_variant,,ENST00000599371,;PSG4,downstream_gene_variant,,ENST00000600572,;PSG4,3_prime_UTR_variant,,ENST00000601041,;PSG4,non_coding_transcript_exon_variant,,ENST00000490769,;PSG4,non_coding_transcript_exon_variant,,ENST00000597349,;PSG4,downstream_gene_variant,,ENST00000595949,;PSG4,downstream_gene_variant,,ENST00000495316,;PSG4,downstream_gene_variant,,ENST00000596199,;	T	ENST00000405312	Transcript	missense_variant	1246/2168	1008/1260	336/419	S/R	agC/agA	rs769133726	1		-1	PSG4	HGNC	HGNC:9521	protein_coding	YES	CCDS46093.1	ENSP00000384770	Q00888		UPI000034ECBA	NM_002780.4	tolerated(0.77)		5/6		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,Pfam_domain:PF13895,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs769133726	.												T	3	4	63	43194575	43194575	G	T	1	0	0	0	0	1	0	0	0	12808	1310	46	2		2	PSG4	19	43194575	Missense_Mutation	SNP	G	C3N-00704_TP	283996	43194575	15423041	577	21074											
IRGC	0	.	GRCh38	chr19	43719268	43719268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctgggagcacgacctgcCctcccaccggcgccacgctg	6	4	11	20	4	0	0	0	0	0	0	1	2	1	1	6	2	2	2	6	2	0	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.710C>A	p.Pro237His	p.P237H	ENST00000244314	2/2	73	52	21	109	108	1	strelka-varscan-mutect	IRGC,missense_variant,p.Pro237His,ENST00000244314,NM_019612.3;IRGC,missense_variant,p.Pro274His,ENST00000596627,;	A	ENST00000244314	Transcript	missense_variant	909/1662	710/1392	237/463	P/H	cCc/cAc		1		1	IRGC	HGNC	HGNC:28835	protein_coding	YES	CCDS12629.1	ENSP00000244314	Q6NXR0	J7NNX4	UPI000011DFC0	NM_019612.3	deleterious(0.01)		2/2		Pfam_domain:PF05049,hmmpanther:PTHR32341,hmmpanther:PTHR32341:SF7,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	43719268	43719268	C	A	1	0	0	0	0	1	0	0	0	7745	623	22	2		2	IRGC	19	43719268	Missense_Mutation	SNP	C	C3N-00704_TP	524693	43719268	14898348	578	21075											
RASIP1	0	.	GRCh38	chr19	48721870	48721870	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacctgtgtccacagcctcCcgctctgcagggggagggtc	5	8	13	15	1	2	0	1	0	1	0	5	1	4	1	4	3	2	2	4	3	0	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2676G>T	p.=	p.R892R	ENST00000222145	11/12	94	87	7	108	108	0	strelka-varscan-mutect	RASIP1,synonymous_variant,p.=,ENST00000222145,NM_017805.2;MAMSTR,upstream_gene_variant,,ENST00000318083,NM_001130915.1;MAMSTR,upstream_gene_variant,,ENST00000356751,NM_182574.2;MAMSTR,upstream_gene_variant,,ENST00000594582,NM_001297753.1;MAMSTR,upstream_gene_variant,,ENST00000599703,;RASIP1,downstream_gene_variant,,ENST00000599291,;RASIP1,non_coding_transcript_exon_variant,,ENST00000601530,;	A	ENST00000222145	Transcript	synonymous_variant	2881/3308	2676/2892	892/963	R	cgG/cgT		1		-1	RASIP1	HGNC	HGNC:24716	protein_coding	YES	CCDS12731.1	ENSP00000222145	Q5U651		UPI000020283D	NM_017805.2			11/12		PROSITE_profiles:PS51126,hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF4																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	63	48721870	48721870	C	A	1	0	0	0	0	0	0	0	1	13239	610	22	2		2	RASIP1	19	48721870	Silent	SNP	C	C3N-00704_TP	5002602	48721870	9895746	579	21076											
TRPM4	0	.	GRCh38	chr19	49196732	49196732	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactgcgccagggcctgagcGgaggcgggggcagcctcgcc	6	3	18	14	4	0	1	0	1	0	0	1	2	0	2	4	5	4	1	4	5	1	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.2503G>T	p.Gly835Ter	p.G835*	ENST00000252826	17/25	136	108	28	200	200	0	strelka-varscan-mutect	TRPM4,stop_gained,p.Gly835Ter,ENST00000252826,NM_017636.3;TRPM4,intron_variant,,ENST00000427978,NM_001195227.1;TRPM4,3_prime_UTR_variant,,ENST00000595519,NM_001321283.1;TRPM4,3_prime_UTR_variant,,ENST00000598502,NM_001321282.1;TRPM4,3_prime_UTR_variant,,ENST00000598697,NM_001321285.1;TRPM4,non_coding_transcript_exon_variant,,ENST00000596338,;TRPM4,non_coding_transcript_exon_variant,,ENST00000595071,;TRPM4,downstream_gene_variant,,ENST00000595882,;	T	ENST00000252826	Transcript	stop_gained	2629/4109	2503/3645	835/1214	G/*	Gga/Tga		1		1	TRPM4	HGNC	HGNC:17993	protein_coding	YES	CCDS33073.1	ENSP00000252826	Q8TD43		UPI0000070598	NM_017636.3			17/25		Low_complexity_(Seg):seg,hmmpanther:PTHR13800:SF6,hmmpanther:PTHR13800,Pfam_domain:PF00520																	HIGH	1	SNV	1			1										PASS		rs1343094946	.												T	4	4	63	49196732	49196732	G	T	1	0	0	0	0	0	1	0	0	17094	1117	39	1		1	TRPM4	19	49196732	Nonsense_Mutation	SNP	G	C3N-00704_TP	474862	49196732	9420884	580	21077											
SLC6A16	0	.	GRCh38	chr19	49308916	49308916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgactgtcgcccagaagcCcaggacacagaagttgaaag	14	5	12	10	1	0	4	0	2	0	2	1	6	0	5	2	1	1	1	2	1	3	1	rs765379330		C3N-00704_TP	C3N-00704_NB	C	C																c.1189G>T	p.Gly397Cys	p.G397C	ENST00000335875	7/12	167	150	17	245	244	1	strelka-varscan-mutect	SLC6A16,missense_variant,p.Gly397Cys,ENST00000454748,;SLC6A16,missense_variant,p.Gly397Cys,ENST00000335875,NM_014037.2;SLC6A16,missense_variant,p.Gly13Cys,ENST00000594180,;SLC6A16,intron_variant,,ENST00000598828,;SLC6A16,intron_variant,,ENST00000597969,;SLC6A16,intron_variant,,ENST00000594917,;MIR4324,upstream_gene_variant,,ENST00000584846,;SLC6A16,intron_variant,,ENST00000598221,;	A	ENST00000335875	Transcript	missense_variant	1431/2938	1189/2211	397/736	G/C	Ggc/Tgc	rs765379330	1		-1	SLC6A16	HGNC	HGNC:13622	protein_coding	YES	CCDS42590.1	ENSP00000338627	Q9GZN6		UPI00001305CE	NM_014037.2	deleterious(0)		7/12		PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF113,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687																	MODERATE	1	SNV	5			1										PASS		rs765379330	.												A	3	1	63	49308916	49308916	C	A	1	0	0	0	0	1	0	0	0	14962	623	22	2		2	SLC6A16	19	49308916	Missense_Mutation	SNP	C	C3N-00704_TP	112184	49308916	9308700	581	21078											
SHANK1	0	.	GRCh38	chr19	50702492	50702492	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcttctcgcccttgctcagGgagatctccccctcggcttg	4	12	9	16	2	4	1	1	0	3	1	7	2	4	1	3	2	1	2	3	2	0	3	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1722C>A	p.=	p.S574S	ENST00000293441	11/23	129	119	10	126	126	0	strelka-varscan-mutect	SHANK1,synonymous_variant,p.=,ENST00000293441,NM_016148.2;SHANK1,synonymous_variant,p.=,ENST00000391814,;SHANK1,synonymous_variant,p.=,ENST00000359082,;SHANK1,downstream_gene_variant,,ENST00000461154,;	T	ENST00000293441	Transcript	synonymous_variant	1741/6643	1722/6486	574/2161	S	tcC/tcA		1		-1	SHANK1	HGNC	HGNC:15474	protein_coding	YES	CCDS12799.1	ENSP00000293441	Q9Y566		UPI000013E109	NM_016148.2			11/23		PROSITE_profiles:PS50002,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	63	50702492	50702492	G	T	1	0	0	0	0	0	0	0	1	14523	1219	43	2		2	SHANK1	19	50702492	Silent	SNP	G	C3N-00704_TP	1393576	50702492	7915124	582	21079											
ZNF534	0	.	GRCh38	chr19	52438532	52438532	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaccatacaaatgtaatGaatgtggcaaggggtttagt	15	10	12	4	0	0	2	0	1	0	1	0	3	0	2	1	3	1	3	1	3	6	4			C3N-00704_TP	C3N-00704_NB	G	G																c.1111G>T	p.Glu371Ter	p.E371*	ENST00000332323	4/4	115	102	13	150	149	1	strelka-varscan-mutect	ZNF534,stop_gained,p.Glu371Ter,ENST00000332323,NM_001143939.1;ZNF534,stop_gained,p.Glu358Ter,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000617900,NM_001291368.1;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;	T	ENST00000332323	Transcript	stop_gained	1172/2086	1111/2025	371/674	E/*	Gaa/Taa	COSM5390579	1		1	ZNF534	HGNC	HGNC:26337	protein_coding	YES	CCDS46165.1	ENSP00000327538	Q76KX8		UPI0000351984	NM_001143939.1			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF187,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	63	52438532	52438532	G	T	1	0	0	0	0	0	1	0	0	18546	1291	45	2		2	ZNF534	19	52438532	Nonsense_Mutation	SNP	G	C3N-00704_TP	1736040	52438532	6179084	583	21080											
LAIR1	0	.	GRCh38	chr19	54355402	54355402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcacctcctgggaactccCtgcagccagggcctaagagg	8	6	12	15	1	1	1	1	0	0	1	3	2	3	2	5	3	3	1	5	3	2	1			C3N-00704_TP	C3N-00704_NB	C	C																c.730G>T	p.Gly244Trp	p.G244W	ENST00000391742	10/10	81	58	23	90	90	0	strelka-varscan-mutect	LAIR1,missense_variant,p.Gly244Trp,ENST00000391742,NM_002287.5;LAIR1,missense_variant,p.Gly226Trp,ENST00000391743,NM_001289026.2,NM_001289027.2;LAIR1,missense_variant,p.Gly243Trp,ENST00000434277,NM_001289025.2;LAIR1,missense_variant,p.Gly227Trp,ENST00000348231,NM_021706.4;LAIR1,missense_variant,p.Gly226Trp,ENST00000474878,NM_001289023.2;LAIR1,downstream_gene_variant,,ENST00000622064,;LAIR1,non_coding_transcript_exon_variant,,ENST00000440716,;LAIR1,downstream_gene_variant,,ENST00000463489,;LAIR1,downstream_gene_variant,,ENST00000468656,;LAIR1,3_prime_UTR_variant,,ENST00000391741,;LAIR1,non_coding_transcript_exon_variant,,ENST00000475389,;LAIR1,non_coding_transcript_exon_variant,,ENST00000467269,;LAIR1,non_coding_transcript_exon_variant,,ENST00000498511,;LAIR1,downstream_gene_variant,,ENST00000460312,;LAIR1,downstream_gene_variant,,ENST00000418556,;LAIR1,downstream_gene_variant,,ENST00000436513,;LAIR1,downstream_gene_variant,,ENST00000420483,;	A	ENST00000391742	Transcript	missense_variant	883/4901	730/864	244/287	G/W	Ggg/Tgg	COSM5251483	1		-1	LAIR1	HGNC	HGNC:6477	protein_coding	YES	CCDS12891.1	ENSP00000375622	Q6GTX8		UPI00034F23B9	NM_002287.5	deleterious(0)		10/10		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF122											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	63	54355402	54355402	C	A	1	0	0	0	0	1	0	0	0	8506	681	24	2		2	LAIR1	19	54355402	Missense_Mutation	SNP	C	C3N-00704_TP	1916870	54355402	4262214	584	21081											
LILRA1	0	.	GRCh38	chr19	54596353	54596353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctcagatcaatacacgaaTatcctaagtaccaggctgaa	15	9	7	10	1	2	2	2	1	1	1	4	3	3	2	2	1	2	2	2	1	7	4	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1123T>C	p.Tyr375His	p.Y375H	ENST00000251372	7/10	501	462	39	635	635	0	strelka-varscan-mutect	LILRA1,missense_variant,p.Tyr375His,ENST00000251372,NM_006863.3;LILRA1,missense_variant,p.Tyr375His,ENST00000618665,;LILRA1,intron_variant,,ENST00000453777,NM_001278318.1;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,;	C	ENST00000251372	Transcript	missense_variant	1305/1910	1123/1470	375/489	Y/H	Tat/Cat		1		1	LILRA1	HGNC	HGNC:6602	protein_coding	YES	CCDS12901.1	ENSP00000251372	O75019		UPI0000034C00	NM_006863.3	deleterious(0.03)		7/10		Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF117,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	63	54596353	54596353	T	C	1	0	0	0	0	1	0	0	0	8693	1406	49	5		5	LILRA1	19	54596353	Missense_Mutation	SNP	T	C3N-00704_TP	240951	54596353	4021263	585	21082											
NLRP9	0	.	GRCh38	chr19	55715107	55715107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcgctgcacacagagatgCcactccattatcttccaggg	10	8	9	14	1	1	1	0	0	1	1	3	2	3	1	3	1	3	2	3	1	1	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.2449G>T	p.Ala817Ser	p.A817S	ENST00000332836	6/9	103	81	22	150	150	0	strelka-varscan-mutect	NLRP9,missense_variant,p.Ala817Ser,ENST00000332836,NM_176820.3;NLRP9,missense_variant,p.Ala817Ser,ENST00000590200,;	A	ENST00000332836	Transcript	missense_variant	2477/3484	2449/2976	817/991	A/S	Gca/Tca		1		-1	NLRP9	HGNC	HGNC:22941	protein_coding	YES	CCDS12934.1	ENSP00000331857	Q7RTR0		UPI00001B6B39	NM_176820.3	tolerated(0.75)		6/9		hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Pfam_domain:PF13516,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	55715107	55715107	C	A	1	0	0	0	0	1	0	0	0	10522	739	26	2		2	NLRP9	19	55715107	Missense_Mutation	SNP	C	C3N-00704_TP	1118754	55715107	2902509	586	21083											
AURKC	0	.	GRCh38	chr19	57232064	57232064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgatgactttgaaatcGggcgtcccctgggcaagggg	8	8	15	10	3	0	2	0	2	0	0	3	3	1	2	2	4	0	1	2	4	2	1			C3N-00704_TP	C3N-00704_NB	G	G																c.136G>T	p.Gly46Trp	p.G46W	ENST00000302804	3/7	422	339	83	496	495	1	strelka-varscan-mutect	AURKC,missense_variant,p.Gly12Trp,ENST00000448930,;AURKC,missense_variant,p.Gly46Trp,ENST00000302804,NM_001015878.1;AURKC,missense_variant,p.Gly12Trp,ENST00000598785,NM_003160.2;AURKC,missense_variant,p.Gly27Trp,ENST00000415300,NM_001015879.1;AURKC,missense_variant,p.Gly43Trp,ENST00000599062,;AURKC,upstream_gene_variant,,ENST00000594599,;AURKC,missense_variant,p.Gly12Trp,ENST00000596375,;AURKC,3_prime_UTR_variant,,ENST00000601799,;	T	ENST00000302804	Transcript	missense_variant	322/1247	136/930	46/309	G/W	Ggg/Tgg	COSM1245846,COSM1245847	1		1	AURKC	HGNC	HGNC:11391	protein_coding	YES	CCDS33128.1	ENSP00000302898	Q9UQB9		UPI000013610A	NM_001015878.1	deleterious(0)		3/7		Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF000654,PROSITE_profiles:PS50011,hmmpanther:PTHR24350,hmmpanther:PTHR24350:SF3,SMART_domains:SM00220,Superfamily_domains:SSF56112											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	63	57232064	57232064	G	T	1	0	0	0	0	1	0	0	0	1380	1116	39	1		1	AURKC	19	57232064	Missense_Mutation	SNP	G	C3N-00704_TP	1516957	57232064	1385552	587	21084											
SIRPD	0	.	GRCh38	chr20	1552016	1552016	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacatctccgtttgttgCacatggaacacatgtgtgac	9	13	10	9	1	1	2	0	2	1	0	2	3	1	3	1	1	2	3	1	1	1	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.453G>C	p.=	p.V151V	ENST00000567028	3/3	102	72	30	160	160	0	strelka-varscan-mutect	RP4-576H24.4,missense_variant,p.Cys156Ser,ENST00000564763,;SIRPD,synonymous_variant,p.=,ENST00000381623,NM_178460.2;SIRPD,synonymous_variant,p.=,ENST00000381621,;RP4-576H24.4,synonymous_variant,p.=,ENST00000567028,;RP4-576H24.4,intron_variant,,ENST00000566961,;SIRPD,upstream_gene_variant,,ENST00000429387,;RP4-576H24.2,non_coding_transcript_exon_variant,,ENST00000453770,;	G	ENST00000567028	Transcript	synonymous_variant	490/568	453/531	151/177	V	gtG/gtC		1		-1	RP4-576H24.4	Clone_based_vega_gene		protein_coding	YES		ENSP00000454437		H3BML4	UPI0002466C6D				3/3		hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF12																	LOW		SNV	4			1										PASS		.	.												G	2	3	63	1552016	1552016	C	G	1	0	0	0	0	0	0	0	1	14598	697	25	4		4	SIRPD	20	1552016	Silent	SNP	C	C3N-00704_TP		1552016	62892151	588	21085											
TMEM239	0	.	GRCh38	chr20	2816410	2816410	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacatgacttaggtaactgcCcagaggtaagtcccagtccc	12	8	9	12	0	0	2	0	1	0	1	2	2	2	2	3	2	3	2	3	2	4	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.76C>A	p.Pro26Thr	p.P26T	ENST00000361033	1/2	167	138	29	261	261	0	strelka-varscan-mutect	TMEM239,missense_variant,p.Pro26Thr,ENST00000361033,NM_001318207.1;TMEM239,5_prime_UTR_variant,,ENST00000380585,NM_001167670.1;RP5-860F19.8,intron_variant,,ENST00000380593,;C20orf141,downstream_gene_variant,,ENST00000380589,NM_080739.2;C20orf141,downstream_gene_variant,,ENST00000603872,NM_001256538.1;	A	ENST00000361033	Transcript	missense_variant	109/3892	76/588	26/195	P/T	Cca/Aca		1		1	TMEM239	HGNC	HGNC:40044	protein_coding			ENSP00000354312	Q8WW34		UPI00001C0BF4	NM_001318207.1	deleterious_low_confidence(0.03)		1/2		hmmpanther:PTHR37356:SF1,hmmpanther:PTHR37356																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	63	2816410	2816410	C	A	1	0	0	0	0	1	0	0	0	16599	637	22	2		2	TMEM239	20	2816410	Missense_Mutation	SNP	C	C3N-00704_TP	1264394	2816410	61627757	589	21086											
PAX1	0	.	GRCh38	chr20	21706926	21706926	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accagtacccctaccccagtCccgtgtcgcccacgggcgcc	6	5	9	21	4	0	0	0	0	0	0	2	0	1	0	8	1	2	1	8	1	2	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.775C>A	p.Pro259Thr	p.P259T	ENST00000398485	2/5	86	70	16	187	187	0	strelka-varscan-mutect	PAX1,missense_variant,p.Pro259Thr,ENST00000613128,NM_001257096.1;PAX1,missense_variant,p.Pro259Thr,ENST00000398485,NM_006192.4;PAX1,missense_variant,p.Pro235Thr,ENST00000444366,;RP5-1065O2.4,upstream_gene_variant,,ENST00000624692,;PAX1,non_coding_transcript_exon_variant,,ENST00000460221,;PAX1,upstream_gene_variant,,ENST00000485038,;	A	ENST00000398485	Transcript	missense_variant	829/2838	775/1605	259/534	P/T	Ccc/Acc		1		1	PAX1	HGNC	HGNC:8615	protein_coding	YES	CCDS13146.2	ENSP00000381499	P15863		UPI000179A786	NM_006192.4	deleterious(0.02)		2/5		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF262																	MODERATE		SNV	5			1										PASS		rs1277587661	.												A	3	1	63	21706926	21706926	C	A	1	0	0	0	0	1	0	0	0	11563	855	30	2		2	PAX1	20	21706926	Missense_Mutation	SNP	C	C3N-00704_TP	18890516	21706926	42737241	590	21087											
DEFB118	0	.	GRCh38	chr20	31372963	31372963	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatcttcgagcttgctgCattccatccaatgaagacca	14	10	6	11	1	1	2	0	1	1	1	4	3	3	2	3	0	3	3	3	0	4	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.165C>T	p.=	p.C55C	ENST00000253381	2/2	312	250	62	470	470	0	strelka-varscan-mutect	DEFB118,synonymous_variant,p.=,ENST00000253381,NM_054112.2;DEFB119,downstream_gene_variant,,ENST00000339144,;DEFB119,downstream_gene_variant,,ENST00000376321,NM_153289.3;SNORA40,upstream_gene_variant,,ENST00000390832,;DEFB119,downstream_gene_variant,,ENST00000492344,;	T	ENST00000253381	Transcript	synonymous_variant	198/1158	165/372	55/123	C	tgC/tgT		1		1	DEFB118	HGNC	HGNC:16196	protein_coding	YES	CCDS13177.1	ENSP00000253381	Q96PH6		UPI0000128D91	NM_054112.2			2/2		PD866254,Pfam_domain:PF13841,hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF24																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	63	31372963	31372963	C	T	1	0	0	0	0	0	0	0	1	4209	718	25	3		3	DEFB118	20	31372963	Silent	SNP	C	C3N-00704_TP	9666037	31372963	33071204	591	21088											
NDRG3	0	.	GRCh38	chr20	36688757	36688757	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatagtgacgtggaccaCaccatgagttgtttctatat	10	15	8	8	1	2	2	0	2	2	0	2	3	2	3	2	1	0	2	2	1	4	6	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.121G>T	p.Val41Leu	p.V41L	ENST00000349004	4/16	120	101	19	201	201	0	strelka-varscan-mutect	NDRG3,missense_variant,p.Val41Leu,ENST00000373803,;NDRG3,missense_variant,p.Val41Leu,ENST00000349004,NM_032013.3;NDRG3,missense_variant,p.Val29Leu,ENST00000359675,NM_022477.3;NDRG3,missense_variant,p.Val32Leu,ENST00000422536,;NDRG3,intron_variant,,ENST00000373773,;	A	ENST00000349004	Transcript	missense_variant	203/2964	121/1128	41/375	V/L	Gtg/Ttg		1		-1	NDRG3	HGNC	HGNC:14462	protein_coding	YES	CCDS13285.1	ENSP00000345292	Q9UGV2		UPI000012FEDF	NM_032013.3	tolerated(0.77)		4/16		hmmpanther:PTHR11034,hmmpanther:PTHR11034:SF20,Gene3D:3.40.50.1820,Pfam_domain:PF03096,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		rs1444622744	.												A	3	1	63	36688757	36688757	C	A	1	0	0	0	0	1	0	0	0	10274	478	17	2		2	NDRG3	20	36688757	Missense_Mutation	SNP	C	C3N-00704_TP	5315794	36688757	27755410	592	21089											
RPN2	0	.	GRCh38	chr20	37207347	37207347	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctccgaagccttcagcgtGgcctctgcagctgctgtgct	4	11	11	15	2	3	0	1	0	2	0	4	1	3	0	3	1	6	4	3	1	1	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.765G>T	p.=	p.V255V	ENST00000237530	7/17	337	253	84	511	511	0	strelka-varscan-mutect	RPN2,synonymous_variant,p.=,ENST00000237530,NM_001324303.1,NM_002951.3;RPN2,synonymous_variant,p.=,ENST00000373622,NM_001135771.1;RPN2,synonymous_variant,p.=,ENST00000373632,;RPN2,synonymous_variant,p.=,ENST00000456102,;RPN2,synonymous_variant,p.=,ENST00000462163,;	T	ENST00000237530	Transcript	synonymous_variant	1076/2515	765/1896	255/631	V	gtG/gtT		1		1	RPN2	HGNC	HGNC:10382	protein_coding	YES	CCDS13291.1	ENSP00000237530	P04844		UPI0000000C52	NM_001324303.1,NM_002951.3			7/17		Pfam_domain:PF05817,hmmpanther:PTHR12640,hmmpanther:PTHR12640:SF0,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	63	37207347	37207347	G	T	1	0	0	0	0	0	0	0	1	13861	1335	47	2		2	RPN2	20	37207347	Silent	SNP	G	C3N-00704_TP	518590	37207347	27236820	593	21090											
LBP	0	.	GRCh38	chr20	38364033	38364033	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcttagtggaagcccctcgGgcaacagcccagatgctgga	10	6	13	12	1	0	1	0	0	0	1	1	3	0	3	3	3	5	3	3	3	3	1	rs753960229		C3N-00704_TP	C3N-00704_NB	G	G																c.711G>T	p.=	p.R237R	ENST00000217407	7/15	216	159	57	274	274	0	strelka-varscan-mutect	LBP,synonymous_variant,p.=,ENST00000217407,NM_004139.4;	T	ENST00000217407	Transcript	synonymous_variant	872/1961	711/1446	237/481	R	cgG/cgT	rs753960229	1		1	LBP	HGNC	HGNC:6517	protein_coding	YES	CCDS13304.1	ENSP00000217407	P18428		UPI000013C728	NM_004139.4			7/15		hmmpanther:PTHR10504:SF66,hmmpanther:PTHR10504,PIRSF_domain:PIRSF002417,Gene3D:1ewfA02,SMART_domains:SM00328,Superfamily_domains:SSF55394																	LOW	1	SNV	1			1										PASS		rs753960229	.												T	2	4	63	38364033	38364033	G	T	1	0	0	0	0	0	0	0	1	8557	1219	43	2		2	LBP	20	38364033	Silent	SNP	G	C3N-00704_TP	1156686	38364033	26080134	594	21091											
PTPRT	0	.	GRCh38	chr20	42199349	42199349	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaggccccatctccctctgGgctccactctgggtctcctt	4	11	8	18	0	4	0	0	0	4	0	7	0	5	0	5	3	0	1	5	3	0	1	rs780918827		C3N-00704_TP	C3N-00704_NB	G	G																c.2439C>A	p.=	p.A813A	ENST00000373198	17/32	100	74	26	168	168	0	strelka-varscan-mutect	PTPRT,synonymous_variant,p.=,ENST00000373198,NM_133170.3;PTPRT,synonymous_variant,p.=,ENST00000373193,;PTPRT,synonymous_variant,p.=,ENST00000373201,;PTPRT,synonymous_variant,p.=,ENST00000373190,;PTPRT,synonymous_variant,p.=,ENST00000373184,;PTPRT,synonymous_variant,p.=,ENST00000356100,;PTPRT,synonymous_variant,p.=,ENST00000373187,NM_007050.5;PTPRT,synonymous_variant,p.=,ENST00000612229,;PTPRT,synonymous_variant,p.=,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	T	ENST00000373198	Transcript	synonymous_variant	2675/12746	2439/4383	813/1460	A	gcC/gcA	rs780918827	1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3			17/32		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208																	LOW	1	SNV	2			1										PASS		rs780918827	.												T	2	4	63	42199349	42199349	G	T	1	0	0	0	0	0	0	0	1	12967	1219	43	2		2	PTPRT	20	42199349	Silent	SNP	G	C3N-00704_TP	3835316	42199349	22244818	595	21092											
BMP7	0	.	GRCh38	chr20	57202483	57202483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggggactcaccatccagcGtctccaccgagagctgcagg	8	5	13	15	3	2	1	1	0	1	1	4	3	3	2	4	3	3	2	4	3	0	0	rs112344257		C3N-00704_TP	C3N-00704_NB	G	G																c.752C>A	p.Thr251Lys	p.T251K	ENST00000395863	3/7	365	278	87	405	405	0	strelka-varscan-mutect	BMP7,missense_variant,p.Thr251Lys,ENST00000395863,NM_001719.2;BMP7,missense_variant,p.Thr251Lys,ENST00000450594,;BMP7,missense_variant,p.Thr251Lys,ENST00000395864,;BMP7,missense_variant,p.Thr173Lys,ENST00000433911,;BMP7,non_coding_transcript_exon_variant,,ENST00000460817,;BMP7,non_coding_transcript_exon_variant,,ENST00000530870,;BMP7,non_coding_transcript_exon_variant,,ENST00000524700,;	T	ENST00000395863	Transcript	missense_variant	1258/4013	752/1296	251/431	T/K	aCg/aAg	rs112344257,COSM3991798	1		-1	BMP7	HGNC	HGNC:1074	protein_coding	YES	CCDS13455.1	ENSP00000379204	P18075	A8K571	UPI00000349AD	NM_001719.2	deleterious(0)		3/7		Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs112344257	.												T	3	4	63	57202483	57202483	G	T	1	0	0	0	0	1	0	0	0	1620	1145	40	1		1	BMP7	20	57202483	Missense_Mutation	SNP	G	C3N-00704_TP	15003134	57202483	7241684	596	21093											
SPO11	0	.	GRCh38	chr20	57343450	57343450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taacaaattaaaatttggagGatggatataaaaataaatca	22	11	6	2	0	1	0	1	0	0	0	1	3	1	3	0	3	1	0	0	3	10	6	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1181G>T	p.Gly394Val	p.G394V	ENST00000371263	13/13	52	47	5	156	156	0	strelka-varscan-mutect	SPO11,missense_variant,p.Gly394Val,ENST00000371263,NM_012444.2;SPO11,missense_variant,p.Gly356Val,ENST00000345868,NM_198265.1;SPO11,missense_variant,p.Gly352Val,ENST00000371260,;SPO11,downstream_gene_variant,,ENST00000418127,;SPO11,3_prime_UTR_variant,,ENST00000494972,;	T	ENST00000371263	Transcript	missense_variant	1290/1834	1181/1191	394/396	G/V	gGa/gTa		1		1	SPO11	HGNC	HGNC:11250	protein_coding	YES	CCDS13456.1	ENSP00000360310	Q9Y5K1		UPI0000135E5E	NM_012444.2	tolerated(0.09)		13/13		hmmpanther:PTHR10848,Gene3D:3.40.1360.10,Superfamily_domains:0036260,Prints_domain:PR01551																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	57343450	57343450	G	T	1	0	0	0	0	1	0	0	0	15430	1174	41	2		2	SPO11	20	57343450	Missense_Mutation	SNP	G	C3N-00704_TP	140967	57343450	7100717	597	21094											
CTCFL	0	.	GRCh38	chr20	57523968	57523968	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaccgtctgcagggtcaGgatgtacttctcgctctcct	5	12	11	13	2	4	0	1	0	3	0	6	1	4	1	2	2	3	4	2	2	1	2	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.238C>G	p.Leu80Val	p.L80V	ENST00000423479	2/12	235	214	21	351	351	0	strelka-varscan-mutect	CTCFL,missense_variant,p.Leu80Val,ENST00000608263,NM_001269041.1;CTCFL,missense_variant,p.Leu80Val,ENST00000429804,NM_001269046.1;CTCFL,missense_variant,p.Leu80Val,ENST00000609232,NM_080618.3;CTCFL,missense_variant,p.Leu80Val,ENST00000243914,;CTCFL,missense_variant,p.Leu80Val,ENST00000371196,NM_001269042.1,NM_001269040.1;CTCFL,missense_variant,p.Leu80Val,ENST00000422869,NM_001269047.1;CTCFL,missense_variant,p.Leu80Val,ENST00000432255,NM_001269048.1;CTCFL,missense_variant,p.Leu80Val,ENST00000608425,NM_001269045.1;CTCFL,missense_variant,p.Leu80Val,ENST00000608440,NM_001269044.1;CTCFL,missense_variant,p.Leu80Val,ENST00000423479,NM_001269043.1;CTCFL,missense_variant,p.Leu80Val,ENST00000608158,NM_001269052.1;CTCFL,missense_variant,p.Leu80Val,ENST00000481655,NM_001269051.1;CTCFL,intron_variant,,ENST00000539382,NM_001269050.1;CTCFL,intron_variant,,ENST00000433949,NM_001269049.1;CTCFL,intron_variant,,ENST00000608903,NM_001269055.1;CTCFL,intron_variant,,ENST00000502686,NM_001269054.1;CTCFL,intron_variant,,ENST00000608858,;CTCFL,missense_variant,p.Leu80Val,ENST00000426658,;CTCFL,missense_variant,p.Leu80Val,ENST00000422109,;CTCFL,missense_variant,p.Leu80Val,ENST00000608720,;CTCFL,non_coding_transcript_exon_variant,,ENST00000607923,;CTCFL,intron_variant,,ENST00000608108,;	C	ENST00000423479	Transcript	missense_variant	329/2478	238/2103	80/700	L/V	Ctg/Gtg		1		-1	CTCFL	HGNC	HGNC:16234	protein_coding	YES	CCDS58780.1	ENSP00000415579	Q8NI51		UPI000157860F	NM_001269043.1	tolerated(0.08)		2/12																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	63	57523968	57523968	G	C	1	0	0	0	0	1	0	0	0	3808	991	35	4		4	CTCFL	20	57523968	Missense_Mutation	SNP	G	C3N-00704_TP	180518	57523968	6920199	598	21095											
HRH3	0	.	GRCh38	chr20	62219930	62219930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcctcgcccgccagcgccCccgaagcgttcagcggcccg	4	3	12	22	8	1	0	1	0	0	0	2	1	1	0	7	1	3	1	7	1	1	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.41G>T	p.Gly14Val	p.G14V	ENST00000340177	1/3	51	40	11	73	73	0	strelka-varscan-mutect	HRH3,missense_variant,p.Gly14Val,ENST00000340177,NM_007232.2;HRH3,missense_variant,p.Gly14Val,ENST00000317393,;HRH3,missense_variant,p.Gly14Val,ENST00000611492,;	A	ENST00000340177	Transcript	missense_variant	326/2659	41/1338	14/445	G/V	gGg/gTg		1		-1	HRH3	HGNC	HGNC:5184	protein_coding	YES	CCDS13493.1	ENSP00000342560	Q9Y5N1		UPI000012C6ED	NM_007232.2	tolerated(0.09)		1/3		Prints_domain:PR01471,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF292,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	62219930	62219930	C	A	1	0	0	0	0	1	0	0	0	7252	623	22	2		2	HRH3	20	62219930	Missense_Mutation	SNP	C	C3N-00704_TP	4695962	62219930	2224237	599	21096											
SAMSN1	0	.	GRCh38	chr21	14512456	14512456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttacttgatgagctctGtccactgtagagactatcca	10	12	8	11	0	1	3	0	2	1	1	3	4	3	3	3	0	3	2	3	0	3	4			C3N-00704_TP	C3N-00704_NB	G	G																c.601C>A	p.Gln201Lys	p.Q201K	ENST00000285670	5/9	193	158	35	198	198	0	strelka-varscan-mutect	SAMSN1,missense_variant,p.Gln201Lys,ENST00000285670,NM_001256370.1;SAMSN1,missense_variant,p.Gln64Lys,ENST00000619120,NM_001286523.1;SAMSN1,missense_variant,p.Gln133Lys,ENST00000400566,NM_022136.4;SAMSN1,intron_variant,,ENST00000400564,;	T	ENST00000285670	Transcript	missense_variant	776/2185	601/1326	201/441	Q/K	Cag/Aag	COSM4100831,COSM4100832	1		-1	SAMSN1	HGNC	HGNC:10528	protein_coding	YES	CCDS58786.1	ENSP00000285670	Q9NSI8		UPI000013DDFD	NM_001256370.1	tolerated(0.25)		5/9		Low_complexity_(Seg):seg,hmmpanther:PTHR12301,hmmpanther:PTHR12301:SF4,Pfam_domain:PF12485											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	63	14512456	14512456	G	T	1	0	0	0	0	1	0	0	0	14090	1386	48	2		2	SAMSN1	21	14512456	Missense_Mutation	SNP	G	C3N-00704_TP		14512456	32197527	600	21097											
DSCAM	0	.	GRCh38	chr21	40075189	40075189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcttcgttttggacaactGacttaatgagtggaggaatt	10	15	10	6	1	1	2	0	2	1	0	2	5	1	5	0	3	1	1	0	3	3	6	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.4736C>T	p.Ser1579Leu	p.S1579L	ENST00000400454	27/33	161	129	32	192	192	0	strelka-varscan-mutect	DSCAM,missense_variant,p.Ser1579Leu,ENST00000400454,NM_001389.3,NM_001271534.1;DSCAM,missense_variant,p.Ser1414Leu,ENST00000617870,;DSCAM,missense_variant,p.Ser1331Leu,ENST00000404019,;	A	ENST00000400454	Transcript	missense_variant	5214/8552	4736/6039	1579/2012	S/L	tCa/tTa		1		-1	DSCAM	HGNC	HGNC:3039	protein_coding	YES	CCDS42929.1	ENSP00000383303	O60469		UPI00000422DF	NM_001389.3,NM_001271534.1	tolerated(0.07)		27/33		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	40075189	40075189	G	A	1	0	0	0	0	1	0	0	0	4589	1294	45	3		3	DSCAM	21	40075189	Missense_Mutation	SNP	G	C3N-00704_TP	25562733	40075189	6634794	601	21098											
TSPEAR	0	.	GRCh38	chr21	44527291	44527291	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtcaccgaacacagacttgCctttttcccgatggtgaaat	11	11	8	11	2	1	2	1	1	0	1	2	4	2	2	3	1	2	0	3	1	2	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1149+1G>T		p.X383_splice	ENST00000323084		188	154	34	254	254	0	strelka-varscan-mutect	TSPEAR,splice_donor_variant,,ENST00000614657,NM_001272037.1;TSPEAR,splice_donor_variant,,ENST00000323084,NM_144991.2;TSPEAR,splice_donor_variant,,ENST00000613245,;TSPEAR,splice_donor_variant,,ENST00000397916,;TSPEAR-AS2,downstream_gene_variant,,ENST00000465978,;	A	ENST00000323084	Transcript	splice_donor_variant	-/3967	1149/2010	383/669				1		-1	TSPEAR	HGNC	HGNC:1268	protein_coding	YES	CCDS13712.1	ENSP00000321987	Q8WU66		UPI0000137746	NM_144991.2				7/11																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	63	44527291	44527291	C	A	1	0	0	0	0	0	0	1	0	17160	753	26	2		2	TSPEAR	21	44527291	Splice_Site	SNP	C	C3N-00704_TP	4452102	44527291	2182692	602	21099											
ITGB2	0	.	GRCh38	chr21	44889429	44889429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctcagtggtcctctcgCactggcacgctgagccctca	6	8	10	17	2	3	1	2	1	1	0	5	1	4	1	3	2	2	3	3	2	0	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1724G>T	p.Cys575Phe	p.C575F	ENST00000397850	14/17	354	291	63	416	415	1	strelka-varscan-mutect	ITGB2,missense_variant,p.Cys575Phe,ENST00000397850,;ITGB2,missense_variant,p.Cys575Phe,ENST00000302347,NM_001303238.1,NM_000211.4;ITGB2,missense_variant,p.Cys575Phe,ENST00000355153,NM_001127491.2;ITGB2,missense_variant,p.Cys575Phe,ENST00000397857,;ITGB2,missense_variant,p.Cys575Phe,ENST00000397852,;ITGB2,missense_variant,p.Cys518Phe,ENST00000397854,;ITGB2,3_prime_UTR_variant,,ENST00000523323,;ITGB2,non_coding_transcript_exon_variant,,ENST00000498666,;ITGB2,non_coding_transcript_exon_variant,,ENST00000475170,;ITGB2,upstream_gene_variant,,ENST00000479202,;	A	ENST00000397850	Transcript	missense_variant	2177/3178	1724/2310	575/769	C/F	tGc/tTc		1		-1	ITGB2	HGNC	HGNC:6155	protein_coding	YES	CCDS13716.1	ENSP00000380948	P05107		UPI0000000C70		deleterious(0)		14/17		Gene3D:2.10.25.10,PIRSF_domain:PIRSF002512,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF15,Superfamily_domains:SSF57196																	MODERATE	1	SNV	5			1										PASS		rs1378618759	.												A	3	1	63	44889429	44889429	C	A	1	0	0	0	0	1	0	0	0	7800	710	25	2		2	ITGB2	21	44889429	Missense_Mutation	SNP	C	C3N-00704_TP	362138	44889429	1820554	603	21100											
PCNT	0	.	GRCh38	chr21	46399737	46399737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcaacatcaggaaaaaaGtggcccagctccaggaagaa	18	4	9	10	0	2	1	2	0	0	1	3	3	3	3	2	3	2	1	2	3	6	0	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.4732G>C	p.Val1578Leu	p.V1578L	ENST00000359568	25/47	346	298	48	520	520	0	strelka-varscan-mutect	PCNT,missense_variant,p.Val1578Leu,ENST00000359568,NM_006031.5;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;	C	ENST00000359568	Transcript	missense_variant	4839/10560	4732/10011	1578/3336	V/L	Gtg/Ctg		1		1	PCNT	HGNC	HGNC:16068	protein_coding	YES	CCDS33592.1	ENSP00000352572	O95613		UPI00001AEB88	NM_006031.5	tolerated(0.27)		25/47		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF204																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	63	46399737	46399737	G	C	1	0	0	0	0	1	0	0	0	11678	1029	36	4		4	PCNT	21	46399737	Missense_Mutation	SNP	G	C3N-00704_TP	1510308	46399737	310246	604	21101											
OR11H1	0	.	GRCh38	chr22	15528714	15528714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagatgcccttctgtggcCcaaacattattgaccatgtt	9	13	7	12	0	2	2	1	1	1	1	2	2	2	2	3	1	2	1	3	1	2	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.556C>A	p.Pro186Thr	p.P186T	ENST00000252835	1/1	197	175	22	313	313	0	varscan-mutect	OR11H1,missense_variant,p.Pro186Thr,ENST00000252835,NM_001005239.1;	A	ENST00000252835	Transcript	missense_variant	557/982	556/981	186/326	P/T	Cca/Aca		1		1	OR11H1	HGNC	HGNC:15404	protein_coding	YES	CCDS74807.1	ENSP00000252835	Q8NG94		UPI000004B1CF	NM_001005239.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF201,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	63	15528714	15528714	C	A	1	0	0	0	0	1	0	0	0	11002	623	22	2		2	OR11H1	22	15528714	Missense_Mutation	SNP	C	C3N-00704_TP		15528714	35289754	605	21102											
ZNF74	0	.	GRCh38	chr22	20406322	20406322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcaacagccgctcgcGcctcaccctccaccagagga	8	5	9	19	3	2	1	2	0	0	1	4	2	3	2	6	2	2	1	6	2	1	1			C3N-00704_TP	C3N-00704_NB	G	G																c.1289G>T	p.Arg430Leu	p.R430L	ENST00000611540	6/6	128	96	32	163	163	0	strelka-varscan-mutect	ZNF74,missense_variant,p.Arg430Leu,ENST00000611540,NM_001256524.1;ZNF74,missense_variant,p.Arg430Leu,ENST00000400451,NM_001256525.1,NM_003426.3;ZNF74,missense_variant,p.Arg398Leu,ENST00000405993,;ZNF74,3_prime_UTR_variant,,ENST00000403682,NM_001256523.1;ZNF74,3_prime_UTR_variant,,ENST00000357502,;ZNF74,downstream_gene_variant,,ENST00000420626,;ZNF74,3_prime_UTR_variant,,ENST00000437275,;ZNF74,non_coding_transcript_exon_variant,,ENST00000476678,;ZNF74,non_coding_transcript_exon_variant,,ENST00000493734,;	T	ENST00000611540	Transcript	missense_variant	1575/3714	1289/1935	430/644	R/L	cGc/cTc	COSM4609952	1		1	ZNF74	HGNC	HGNC:13144	protein_coding	YES	CCDS42982.1	ENSP00000483077	Q16587		UPI000020710C	NM_001256524.1	tolerated(0.74)		6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF336,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	63	20406322	20406322	G	T	1	0	0	0	0	1	0	0	0	18710	1087	38	1		1	ZNF74	22	20406322	Missense_Mutation	SNP	G	C3N-00704_TP	4877608	20406322	30412146	606	21103											
SCARF2	0	.	GRCh38	chr22	20431084	20431084	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacagtacttgccgcggtagCccggctcgcaggcacacgtg	7	6	14	14	5	0	0	0	0	0	0	1	1	0	0	2	3	3	5	2	3	2	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.788G>T	p.Gly263Val	p.G263V	ENST00000623402	4/11	74	63	11	122	122	0	strelka-varscan-mutect	SCARF2,missense_variant,p.Gly263Val,ENST00000623402,NM_153334.6;SCARF2,missense_variant,p.Gly263Val,ENST00000622235,NM_182895.4;XXbac-B562F10.12,intron_variant,,ENST00000429594,;SCARF2,upstream_gene_variant,,ENST00000494535,;	A	ENST00000623402	Transcript	missense_variant	860/3248	788/2616	263/871	G/V	gGc/gTc		1		-1	SCARF2	HGNC	HGNC:19869	protein_coding	YES	CCDS13779.2	ENSP00000485276		A0A096LNX8	UPI0000EE7ADB	NM_153334.6	deleterious(0)		4/11		Gene3D:2gy5A03,PROSITE_patterns:PS00022,PROSITE_profiles:PS50026,hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF5,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	20431084	20431084	C	A	1	0	0	0	0	1	0	0	0	14150	739	26	2		2	SCARF2	22	20431084	Missense_Mutation	SNP	C	C3N-00704_TP	24762	20431084	30387384	607	21104											
CABIN1	0	.	GRCh38	chr22	24050926	24050926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaagcgctgattgtgcGggagaaggagccggacctga	10	5	18	8	3	0	3	0	2	0	1	0	7	0	5	2	4	3	2	2	4	2	1	rs773327324		C3N-00704_TP	C3N-00704_NB	G	G																c.758G>T	p.Arg253Leu	p.R253L	ENST00000398319	8/37	443	362	81	558	557	1	strelka-varscan-mutect	CABIN1,missense_variant,p.Arg253Leu,ENST00000398319,NM_001199281.1;CABIN1,missense_variant,p.Arg253Leu,ENST00000263119,NM_012295.3;CABIN1,missense_variant,p.Arg208Leu,ENST00000445422,;CABIN1,missense_variant,p.Arg208Leu,ENST00000454754,;CABIN1,intron_variant,,ENST00000617531,NM_001201429.1;CABIN1,intron_variant,,ENST00000405822,;CABIN1,upstream_gene_variant,,ENST00000474981,;	T	ENST00000398319	Transcript	missense_variant	1143/7480	758/6663	253/2220	R/L	cGg/cTg	rs773327324,COSM4417046	1		1	CABIN1	HGNC	HGNC:24187	protein_coding	YES	CCDS13823.1	ENSP00000381364	Q9Y6J0	A0A024R1E5	UPI0000126D6C	NM_001199281.1	tolerated(0.11)		8/37		hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs773327324	.												T	3	4	63	24050926	24050926	G	T	1	0	0	0	0	1	0	0	0	2214	1116	39	1		1	CABIN1	22	24050926	Missense_Mutation	SNP	G	C3N-00704_TP	3619842	24050926	26767542	608	21105											
RFPL3S	0	.	GRCh38	chr22	32360319	32360319	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgacgacctcaggagcgtCcgaagtgggctcatcacaca	10	7	11	13	3	4	1	3	1	1	0	5	4	5	2	2	2	1	1	2	2	1	0	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.441C>A	p.=	p.V147V	ENST00000249007	2/2	175	146	29	266	265	1	strelka-varscan-mutect	RFPL3,synonymous_variant,p.=,ENST00000249007,NM_001098535.1;RFPL3,synonymous_variant,p.=,ENST00000397468,NM_006604.2;RFPL3S,synonymous_variant,p.=,ENST00000621921,;RFPL3S,3_prime_UTR_variant,,ENST00000400234,;RFPL3S,3_prime_UTR_variant,,ENST00000382084,;RFPL3S,downstream_gene_variant,,ENST00000577714,;RFPL3S,downstream_gene_variant,,ENST00000382086,;RFPL3-AS1_1,upstream_gene_variant,,ENST00000617561,;RFPL3S,downstream_gene_variant,,ENST00000461833,;IGLCOR22-2,upstream_gene_variant,,ENST00000605398,;	A	ENST00000249007	Transcript	synonymous_variant	646/1488	441/954	147/317	V	gtC/gtA		1		1	RFPL3	HGNC	HGNC:9980	protein_coding	YES	CCDS43011.1	ENSP00000249007	O75679		UPI000013CC68	NM_001098535.1			2/2		Pfam_domain:PF13765,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF225,SMART_domains:SM00589,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	63	32360319	32360319	C	A	1	0	0	0	0	0	0	0	1	13427	842	30	2		2	RFPL3S	22	32360319	Silent	SNP	C	C3N-00704_TP	8309393	32360319	18458149	609	21106											
FOXRED2	0	.	GRCh38	chr22	36498055	36498055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccagaagcctcattcaCgcgccgcacgatggagctgg	9	5	13	14	4	2	1	2	0	0	1	2	4	2	2	3	2	3	2	3	2	1	1	rs202223816		C3N-00704_TP	C3N-00704_NB	C	C																c.1318G>T	p.Val440Leu	p.V440L	ENST00000397224	6/9	168	137	31	238	238	0	strelka-varscan-mutect	FOXRED2,missense_variant,p.Val440Leu,ENST00000397224,NM_001102371.1;FOXRED2,missense_variant,p.Val440Leu,ENST00000216187,NM_024955.5;FOXRED2,missense_variant,p.Val440Leu,ENST00000397223,;FOXRED2,non_coding_transcript_exon_variant,,ENST00000366463,;	A	ENST00000397224	Transcript	missense_variant	1412/4967	1318/2055	440/684	V/L	Gtg/Ttg	rs202223816	1		-1	FOXRED2	HGNC	HGNC:26264	protein_coding	YES	CCDS13929.1	ENSP00000380401	Q8IWF2		UPI00000744FA	NM_001102371.1	tolerated(0.15)		6/9		hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF53																	MODERATE	1	SNV	1			1										PASS		rs202223816	.												A	3	1	63	36498055	36498055	C	A	1	0	0	0	0	1	0	0	0	5899	536	19	1		1	FOXRED2	22	36498055	Missense_Mutation	SNP	C	C3N-00704_TP	4137736	36498055	14320413	610	21107											
KCNJ4	0	.	GRCh38	chr22	38427950	38427950	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaaggccgcggagaaGatcatgagcatgtagcgcca	14	4	14	9	3	1	3	1	1	0	2	1	5	1	4	2	3	2	2	2	3	4	1	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.183C>A	p.=	p.I61I	ENST00000303592	2/2	103	91	12	152	152	0	strelka-varscan-mutect	KCNJ4,synonymous_variant,p.=,ENST00000303592,NM_152868.2,NM_004981.1;RP3-434P1.6,downstream_gene_variant,,ENST00000433230,;	T	ENST00000303592	Transcript	synonymous_variant	442/2065	183/1338	61/445	I	atC/atA		1		-1	KCNJ4	HGNC	HGNC:6265	protein_coding	YES	CCDS13971.1	ENSP00000306497	P48050	A0A024R1L8	UPI000012D89B	NM_152868.2,NM_004981.1			2/2		hmmpanther:PTHR11767:SF53,hmmpanther:PTHR11767,Gene3D:1.10.287.70,PIRSF_domain:PIRSF005465,Pfam_domain:PF01007,Superfamily_domains:SSF81324,Prints_domain:PR01320,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	63	38427950	38427950	G	T	1	0	0	0	0	0	0	0	1	7970	932	33	2		2	KCNJ4	22	38427950	Silent	SNP	G	C3N-00704_TP	1929895	38427950	12390518	611	21108											
CACNA1I	0	.	GRCh38	chr22	39677390	39677390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcttcatctatgctgCtctcggggtggagctctttg	3	16	11	11	1	6	0	1	0	5	0	7	1	6	1	0	3	3	4	0	3	1	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.4904C>A	p.Ala1635Asp	p.A1635D	ENST00000402142	30/37	121	102	19	113	113	0	strelka-varscan-mutect	CACNA1I,missense_variant,p.Ala1635Asp,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Ala1600Asp,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Ala1635Asp,ENST00000401624,;CACNA1I,missense_variant,p.Ala1600Asp,ENST00000407673,;	A	ENST00000402142	Transcript	missense_variant	4904/10004	4904/6672	1635/2223	A/D	gCt/gAt		1		1	CACNA1I	HGNC	HGNC:1396	protein_coding	YES	CCDS46710.1	ENSP00000385019	Q9P0X4		UPI000012727D	NM_021096.3	deleterious(0)		30/37		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF209,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	39677390	39677390	C	A	1	0	0	0	0	1	0	0	0	2234	797	28	2		2	CACNA1I	22	39677390	Missense_Mutation	SNP	C	C3N-00704_TP	1249440	39677390	11141078	612	21109											
MPPED1	0	.	GRCh38	chr22	43502677	43502677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccaagaagatgcagcGggtgggctgtgtggagctgc	7	7	18	9	1	0	2	0	0	0	2	1	3	1	3	2	4	4	3	2	4	2	0	rs371051285		C3N-00704_TP	C3N-00704_NB	G	G																c.782G>T	p.Arg261Leu	p.R261L	ENST00000417669	6/7	201	158	43	305	304	1	strelka-varscan-mutect	MPPED1,missense_variant,p.Arg261Leu,ENST00000417669,;MPPED1,missense_variant,p.Arg261Leu,ENST00000443721,NM_001044370.1;	T	ENST00000417669	Transcript	missense_variant	1226/3657	782/981	261/326	R/L	cGg/cTg	rs371051285	1		1	MPPED1	HGNC	HGNC:1306	protein_coding	YES	CCDS46723.1	ENSP00000388137	O15442		UPI000006DF41		tolerated(0.1)		6/7		Gene3D:3.60.21.10,Pfam_domain:PF00149,PIRSF_domain:PIRSF035808,hmmpanther:PTHR12905,hmmpanther:PTHR12905:SF12,Superfamily_domains:SSF56300																	MODERATE	1	SNV	5			1										PASS		rs371051285	.												T	3	4	63	43502677	43502677	G	T	1	0	0	0	0	1	0	0	0	9707	1116	39	1		1	MPPED1	22	43502677	Missense_Mutation	SNP	G	C3N-00704_TP	3825287	43502677	7315791	613	21110											
SHANK3	0	.	GRCh38	chr22	50720750	50720750	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggccctggccgtgggcAgccccggtcccggcggcggc	1	3	19	18	7	0	0	0	0	0	0	1	0	1	0	5	7	1	1	5	7	0	0	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.2914A>G	p.Ser972Gly	p.S972G	ENST00000262795	24/25	132	113	19	88	88	0	strelka-varscan-mutect	SHANK3,missense_variant,p.Ser972Gly,ENST00000262795,;SHANK3,missense_variant,p.Ser966Gly,ENST00000445220,NM_033517.1;SHANK3,non_coding_transcript_exon_variant,,ENST00000414786,;	G	ENST00000262795	Transcript	missense_variant	2914/7091	2914/5193	972/1730	S/G	Agc/Ggc		1		1	SHANK3	HGNC	HGNC:14294	protein_coding	YES		ENSP00000489147		A0A0U1RQS4	UPI00071AFB18		tolerated(0.32)		24/25		hmmpanther:PTHR24135:SF4,hmmpanther:PTHR24135																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	63	50720750	50720750	A	G	1	0	0	0	0	1	0	0	0	14525	188	7	5		5	SHANK3	22	50720750	Missense_Mutation	SNP	A	C3N-00704_TP	7218073	50720750	97718	614	21111											
ARSF	0	.	GRCh38	chrX	3084419	3084419	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctctggctctgtgtgcagCtagttgccattgccatcctc	5	13	10	13	0	2	0	0	0	2	0	4	0	3	0	3	1	5	5	3	1	1	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.583C>A	p.Leu195Ile	p.L195I	ENST00000381127	6/11	389	353	36	567	567	0	strelka-varscan-mutect	ARSF,missense_variant,p.Leu195Ile,ENST00000381127,NM_001201538.1,NM_001201539.1;ARSF,missense_variant,p.Leu195Ile,ENST00000359361,NM_004042.4;	A	ENST00000381127	Transcript	missense_variant	804/2164	583/1773	195/590	L/I	Cta/Ata		1		1	ARSF	HGNC	HGNC:721	protein_coding	YES	CCDS14123.1	ENSP00000370519	P54793		UPI00001A9629	NM_001201538.1,NM_001201539.1	tolerated(0.88)		6/11		Transmembrane_helices:TMhelix,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF220,Pfam_domain:PF00884,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	3084419	3084419	C	A	1	0	0	0	0	1	0	0	0	1134	796	28	2		2	ARSF	23	3084419	Missense_Mutation	SNP	C	C3N-00704_TP		3084419	152956476	615	21112											
MXRA5	0	.	GRCh38	chrX	3324225	3324225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccaggacagtctgatctCtttgcacagctccactaggc	8	11	8	14	0	2	1	0	1	2	0	5	2	4	2	2	2	2	2	2	2	1	3	rs745868713		C3N-00704_TP	C3N-00704_NB	C	C																c.1460G>A	p.Arg487Lys	p.R487K	ENST00000217939	5/7	76	64	12	124	124	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Arg487Lys,ENST00000217939,NM_015419.3;	T	ENST00000217939	Transcript	missense_variant	1615/9793	1460/8487	487/2828	R/K	aGa/aAa	rs745868713	1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	tolerated(0.41)		5/7		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs745868713	.												T	3	4	63	3324225	3324225	C	T	1	0	0	0	0	1	0	0	0	10002	913	32	3		3	MXRA5	23	3324225	Missense_Mutation	SNP	C	C3N-00704_TP	239806	3324225	152716670	616	21113											
FANCB	0	.	GRCh38	chrX	14844890	14844890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggaaatgtcagtaggtaCttcccagttgaaagatcttc	11	14	9	7	0	2	2	1	1	1	1	4	3	3	3	1	2	1	3	1	2	4	6	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1893G>T	p.Lys631Asn	p.K631N	ENST00000398334	8/10	55	51	4	149	149	0	strelka-varscan-mutect	FANCB,missense_variant,p.Lys631Asn,ENST00000398334,NM_001324162.1,NM_001018113.1;FANCB,missense_variant,p.Lys631Asn,ENST00000324138,NM_152633.2;FANCB,missense_variant,p.Lys631Asn,ENST00000452869,;	A	ENST00000398334	Transcript	missense_variant	2161/3008	1893/2580	631/859	K/N	aaG/aaT		1		-1	FANCB	HGNC	HGNC:3583	protein_coding	YES	CCDS14161.1	ENSP00000381378	Q8NB91	A0A024RBW1	UPI000006E70A	NM_001324162.1,NM_001018113.1	tolerated(0.14)		8/10		hmmpanther:PTHR28450																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	14844890	14844890	C	A	1	0	0	0	0	1	0	0	0	5522	564	20	2		2	FANCB	23	14844890	Missense_Mutation	SNP	C	C3N-00704_TP	11520665	14844890	141196005	617	21114											
ADGRG2	0	.	GRCh38	chrX	18990896	18990896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataaagtgtaagcttccccGctttgaagtccttctgagag	11	12	9	9	1	1	2	0	2	1	1	3	3	3	2	3	0	1	3	3	0	5	5	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.3022C>T	p.Arg1008Trp	p.R1008W	ENST00000379869	29/29	113	103	10	136	136	0	varscan-mutect	ADGRG2,missense_variant,p.Arg992Trp,ENST00000379878,NM_001184833.1;ADGRG2,missense_variant,p.Arg984Trp,ENST00000379876,NM_001184835.1,NM_001184836.1;ADGRG2,missense_variant,p.Arg1008Trp,ENST00000379869,NM_001079858.2;ADGRG2,missense_variant,p.Arg986Trp,ENST00000360279,NM_001079860.2;ADGRG2,missense_variant,p.Arg957Trp,ENST00000379873,NM_001184834.1;ADGRG2,missense_variant,p.Arg978Trp,ENST00000357544,NM_001184837.1;ADGRG2,missense_variant,p.Arg1005Trp,ENST00000357991,NM_005756.3;ADGRG2,missense_variant,p.Arg994Trp,ENST00000356606,NM_001079859.2;ADGRG2,missense_variant,p.Arg889Trp,ENST00000354791,;ADGRG2,missense_variant,p.Arg889Trp,ENST00000340581,;	A	ENST00000379869	Transcript	missense_variant	3186/4768	3022/3054	1008/1017	R/W	Cgg/Tgg		1		-1	ADGRG2	HGNC	HGNC:4516	protein_coding	YES	CCDS43923.1	ENSP00000369198	Q8IZP9		UPI000021246C	NM_001079858.2	deleterious_low_confidence(0)		29/29																			MODERATE	1	SNV	1			1										PASS		rs1373623454	.												A	3	1	63	18990896	18990896	G	A	1	0	0	0	0	1	0	0	0	369	1086	38	1		1	ADGRG2	23	18990896	Missense_Mutation	SNP	G	C3N-00704_TP	4146006	18990896	137049999	618	21115											
PCYT1B	0	.	GRCh38	chrX	24672613	24672613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattgtcctcttccatgatgCactcctgatggcctaccatg	7	13	8	13	0	1	2	0	2	1	0	4	3	4	2	5	1	2	1	5	1	1	3	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.20G>A	p.Cys7Tyr	p.C7Y	ENST00000379145	1/8	149	136	13	249	249	0	strelka-varscan-mutect	PCYT1B,missense_variant,p.Cys7Tyr,ENST00000379145,NM_001163264.1;	T	ENST00000379145	Transcript	missense_variant	65/5307	20/1056	7/351	C/Y	tGc/tAc		1		-1	PCYT1B	HGNC	HGNC:8755	protein_coding		CCDS55392.1	ENSP00000368440	Q9Y5K3		UPI00002124D9	NM_001163264.1	tolerated_low_confidence(1)		1/8																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	63	24672613	24672613	C	T	1	0	0	0	0	1	0	0	0	11699	710	25	3		3	PCYT1B	23	24672613	Missense_Mutation	SNP	C	C3N-00704_TP	5681717	24672613	131368282	619	21116											
PPP4R3CP	0	.	GRCh38	chrX	27461692	27461692	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctttcttagcaagtctttGttcaagatatagcttcttat	9	18	6	8	0	4	1	1	0	3	1	4	1	4	1	1	0	2	3	1	0	6	8	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.1605C>G	p.Asn535Lys	p.N535K	ENST00000412172	1/1	74	68	6	233	233	0	strelka-varscan-mutect	PPP4R3CP,missense_variant,p.Asn535Lys,ENST00000412172,;	C	ENST00000412172	Transcript	missense_variant	1650/3131	1605/2499	535/832	N/K	aaC/aaG		1		-1	PPP4R3CP	HGNC	HGNC:33146	protein_coding	YES		ENSP00000489770			UPI0000D61D3F				1/1		hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF5,Superfamily_domains:SSF48371																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	63	27461692	27461692	G	C	1	0	0	0	0	1	0	0	0	12529	1368	48	4		4	PPP4R3CP	23	27461692	Missense_Mutation	SNP	G	C3N-00704_TP	2789079	27461692	128579203	620	21117											
MAGEB1	0	.	GRCh38	chrX	30251524	30251524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccccattcagcaggtcctCccaccccatgtgagaactca	10	7	7	17	0	2	1	2	1	0	1	4	2	4	1	6	1	3	1	6	1	1	1	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1031C>A	p.Ser344Tyr	p.S344Y	ENST00000378981	4/4	53	48	5	126	126	0	strelka-varscan-mutect	MAGEB1,missense_variant,p.Ser344Tyr,ENST00000378981,NM_002363.4;MAGEB1,missense_variant,p.Ser344Tyr,ENST00000397550,NM_177415.2;MAGEB1,missense_variant,p.Ser344Tyr,ENST00000397548,NM_177404.2;	A	ENST00000378981	Transcript	missense_variant	1352/1866	1031/1044	344/347	S/Y	tCc/tAc		1		1	MAGEB1	HGNC	HGNC:6808	protein_coding	YES	CCDS14222.1	ENSP00000368264	P43366		UPI000012F053	NM_002363.4	deleterious(0)		4/4		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF52,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	30251524	30251524	C	A	1	0	0	0	0	1	0	0	0	9087	855	30	2		2	MAGEB1	23	30251524	Missense_Mutation	SNP	C	C3N-00704_TP	2789832	30251524	125789371	621	21118											
DMD	0	.	GRCh38	chrX	32441261	32441261	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctacttcatttagccaCttgtttgctttctccaagta	9	18	4	10	0	3	0	1	0	2	0	4	0	3	0	2	0	3	3	2	0	5	9	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.3840G>T	p.Lys1280Asn	p.K1280N	ENST00000357033	28/79	121	98	23	246	246	0	strelka-varscan-mutect	DMD,missense_variant,p.Lys1280Asn,ENST00000357033,NM_000109.3,NM_004006.2;DMD,missense_variant,p.Lys1276Asn,ENST00000378677,NM_004010.3,NM_004009.3;DMD,missense_variant,p.Lys1280Asn,ENST00000620040,;DMD,missense_variant,p.Lys1276Asn,ENST00000619831,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;	A	ENST00000357033	Transcript	missense_variant	4047/13956	3840/11058	1280/3685	K/N	aaG/aaT		1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2	tolerated(0.36)		28/79		hmmpanther:PTHR11915:SF261,hmmpanther:PTHR11915,PIRSF_domain:PIRSF002341,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	32441261	32441261	C	A	1	0	0	0	0	1	0	0	0	4387	564	20	2		2	DMD	23	32441261	Missense_Mutation	SNP	C	C3N-00704_TP	2189737	32441261	123599634	622	21119											
CFAP47	0	.	GRCh38	chrX	36353592	36353592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaatcatactgaatgctgGttttttcggatttagtctta	11	17	8	5	1	2	2	1	1	1	1	3	3	2	3	0	2	2	2	0	2	5	7	rs781868486		C3N-00704_TP	C3N-00704_NB	G	G																c.8762G>T	p.Gly2921Val	p.G2921V	ENST00000378653	60/64	117	105	12	302	302	0	strelka-varscan-mutect	CFAP47,missense_variant,p.Gly2921Val,ENST00000378653,NM_001304548.1;	T	ENST00000378653	Transcript	missense_variant	8828/9943	8762/9564	2921/3187	G/V	gGt/gTt	rs781868486,COSM5431869,COSM5431870	1		1	CFAP47	HGNC	HGNC:26708	protein_coding			ENSP00000367922		A0A140T8X2	UPI000596DACD	NM_001304548.1	tolerated(0.18)		60/64		hmmpanther:PTHR23053											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs781868486	.												T	3	4	63	36353592	36353592	G	T	1	0	0	0	0	1	0	0	0	3022	1261	44	2		2	CFAP47	23	36353592	Missense_Mutation	SNP	G	C3N-00704_TP	3912331	36353592	119687303	623	21120											
OTUD6A	0	.	GRCh38	chrX	70062642	70062642	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaagaccgacaagacgAaaagaaagcagttgctccaa	17	4	8	12	2	0	3	0	0	0	3	2	5	2	3	4	0	2	3	4	0	6	1	novel		C3N-00704_TP	C3N-00704_NB	A	A																c.118A>T	p.Lys40Ter	p.K40*	ENST00000338352	1/1	233	186	47	331	331	0	strelka-varscan-mutect	OTUD6A,stop_gained,p.Lys40Ter,ENST00000338352,NM_207320.2;	T	ENST00000338352	Transcript	stop_gained	152/1689	118/867	40/288	K/*	Aaa/Taa		1		1	OTUD6A	HGNC	HGNC:32312	protein_coding	YES	CCDS14395.1	ENSP00000339389	Q7L8S5		UPI00000712B7	NM_207320.2			1/1		hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF13																	HIGH	1	SNV				1										PASS		.	.												T	4	4	63	70062642	70062642	A	T	1	0	0	0	0	0	1	0	0	11385	247	9	4		4	OTUD6A	23	70062642	Nonsense_Mutation	SNP	A	C3N-00704_TP	33709050	70062642	85978253	624	21121											
ZNF711	0	.	GRCh38	chrX	85271492	85271492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaagattcatcagtgcagGcactgtgactttaaaacatc	14	10	9	8	0	2	2	2	1	0	1	3	3	2	3	0	2	2	2	0	2	3	3			C3N-00704_TP	C3N-00704_NB	G	G																c.1950G>T	p.Arg650Ser	p.R650S	ENST00000373165	9/9	272	220	52	430	430	0	strelka-varscan-mutect	ZNF711,missense_variant,p.Arg696Ser,ENST00000360700,;ZNF711,missense_variant,p.Arg650Ser,ENST00000373165,NM_021998.4;ZNF711,missense_variant,p.Arg650Ser,ENST00000276123,;	T	ENST00000373165	Transcript	missense_variant	2256/4124	1950/2286	650/761	R/S	agG/agT	COSM4111378,COSM4111379	1		1	ZNF711	HGNC	HGNC:13128	protein_coding	YES	CCDS35344.1	ENSP00000362260	Q9Y462		UPI0000212114	NM_021998.4	deleterious(0)		9/9		PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1385831814	.												T	3	4	63	85271492	85271492	G	T	1	0	0	0	0	1	0	0	0	18691	1194	42	2		2	ZNF711	23	85271492	Missense_Mutation	SNP	G	C3N-00704_TP	15208850	85271492	70769403	625	21122											
CHM	0	.	GRCh38	chrX	85901127	85901127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttctcaggaaagtaactgtCctccacgaggaaatgctcag	12	9	10	10	1	2	0	2	0	1	0	5	3	4	2	2	2	2	3	2	2	3	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1306G>T	p.Asp436Tyr	p.D436Y	ENST00000357749	10/15	162	133	29	183	183	0	strelka-varscan-mutect	CHM,missense_variant,p.Asp436Tyr,ENST00000357749,NM_001320959.1,NM_000390.2;MIR361,downstream_gene_variant,,ENST00000362181,;CHM,intron_variant,,ENST00000467744,;	A	ENST00000357749	Transcript	missense_variant	1336/5442	1306/1962	436/653	D/Y	Gac/Tac		1		-1	CHM	HGNC	HGNC:1940	protein_coding	YES	CCDS14454.1	ENSP00000350386	P24386		UPI0000049C8C	NM_001320959.1,NM_000390.2	deleterious(0)		10/15		hmmpanther:PTHR11787:SF12,hmmpanther:PTHR11787,Gene3D:3.50.50.60,Pfam_domain:PF00996,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905,Prints_domain:PR00893																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	85901127	85901127	C	A	1	0	0	0	0	1	0	0	0	3109	855	30	2		2	CHM	23	85901127	Missense_Mutation	SNP	C	C3N-00704_TP	629635	85901127	70139768	626	21123											
TGIF2LX	0	.	GRCh38	chrX	89922117	89922117	+	Frame_Shift_Del	DEL	C	C	-																															tgcggacggcccggctgagaCccaaagcccggtggaaaaag																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.34delC	p.Gln12LysfsTer175	p.Q12Kfs*175	ENST00000561129	1/1	427	347	80	681	681	0	sindel-varindel-pindel	TGIF2LX,frameshift_variant,p.Gln12LysfsTer175,ENST00000561129,;TGIF2LX,frameshift_variant,p.Gln12LysfsTer175,ENST00000283891,NM_138960.3;	-	ENST00000561129	Transcript	frameshift_variant	162/928	32/726	11/241	T/X	aCc/ac		1		1	TGIF2LX	HGNC	HGNC:18570	protein_coding	YES	CCDS14459.1	ENSP00000453704	Q8IUE1		UPI0000074793				1/1																			HIGH	1	deletion		2		1										PASS		.	.												-	7	5	63	89922117	89922117	C	-	1	0	1	0	1	0	0	0	0	16260	507	18	0		0	TGIF2LX	23	89922117	Frame_Shift_Del	DEL	C	C3N-00704_TP	4020990	89922117	66118778	627	21124											
TGIF2LX	0	.	GRCh38	chrX	89922444	89922444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaacagcgtagaaacgaccCcatcattggccacaaaacgg	15	5	8	13	3	2	1	2	0	0	1	2	2	2	1	3	2	4	1	3	2	5	2	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.359C>A	p.Pro120His	p.P120H	ENST00000561129	1/1	377	285	92	603	602	1	strelka-varscan-mutect	TGIF2LX,missense_variant,p.Pro120His,ENST00000561129,;TGIF2LX,missense_variant,p.Pro120His,ENST00000283891,NM_138960.3;	A	ENST00000561129	Transcript	missense_variant	489/928	359/726	120/241	P/H	cCc/cAc		1		1	TGIF2LX	HGNC	HGNC:18570	protein_coding	YES	CCDS14459.1	ENSP00000453704	Q8IUE1		UPI0000074793		deleterious(0)		1/1		hmmpanther:PTHR11850:SF16,hmmpanther:PTHR11850																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	63	89922444	89922444	C	A	1	0	0	0	0	1	0	0	0	16260	623	22	2		2	TGIF2LX	23	89922444	Missense_Mutation	SNP	C	C3N-00704_TP	327	89922444	66118451	628	21125											
COL4A5	0	.	GRCh38	chrX	108687535	108687535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggattgcaaggtcccccaGgtccccctggaacctcctct	7	9	9	16	0	1	0	0	0	1	0	4	2	4	2	6	4	2	1	6	4	2	1	rs104886280		C3N-00704_TP	C3N-00704_NB	G	G																c.4369G>T	p.Gly1457Cys	p.G1457C	ENST00000328300	49/53	257	194	63	374	374	0	strelka-varscan-mutect	COL4A5,missense_variant,p.Gly1457Cys,ENST00000328300,NM_033380.2;COL4A5,missense_variant,p.Gly1451Cys,ENST00000361603,NM_000495.4;COL4A5,missense_variant,p.Gly56Cys,ENST00000515658,;COL4A5,downstream_gene_variant,,ENST00000489230,;	T	ENST00000328300	Transcript	missense_variant	4613/6483	4369/5076	1457/1691	G/C	Ggt/Tgt	rs104886280,CM970368	1		1	COL4A5	HGNC	HGNC:2207	protein_coding	YES	CCDS35366.1	ENSP00000331902	P29400		UPI000002A538	NM_033380.2	deleterious(0.02)		49/53		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF543,hmmpanther:PTHR24023,Pfam_domain:PF01391										pathogenic		9195222					MODERATE	1	SNV	1		1,1	1										PASS		rs104886280	.												T	3	4	63	108687535	108687535	G	T	1	0	0	0	0	1	0	0	0	3483	1000	35	2		2	COL4A5	23	108687535	Missense_Mutation	SNP	G	C3N-00704_TP	18765091	108687535	47353360	629	21126											
DCX	0	.	GRCh38	chrX	111410865	111410865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatgaatccatagcctgaCaaaattccccttgaagagaa	17	9	6	9	0	0	4	0	3	0	1	2	5	2	4	4	0	1	0	4	0	8	4	rs779227493		C3N-00704_TP	C3N-00704_NB	C	C																c.110G>A	p.Cys37Tyr	p.C37Y	ENST00000338081	1/7	328	262	66	472	472	0	strelka-varscan-mutect	DCX,missense_variant,p.Cys37Tyr,ENST00000338081,NM_000555.3;DCX,5_prime_UTR_variant,,ENST00000358070,;DCX,5_prime_UTR_variant,,ENST00000496551,;DCX,intron_variant,,ENST00000636035,NM_001195553.1;DCX,intron_variant,,ENST00000371993,NM_178153.2,NM_178151.2;DCX,intron_variant,,ENST00000635795,NM_178152.2;DCX,intron_variant,,ENST00000637570,;DCX,intron_variant,,ENST00000356220,;DCX,intron_variant,,ENST00000488120,;DCX,intron_variant,,ENST00000637453,;DCX,intron_variant,,ENST00000468911,;DCX,upstream_gene_variant,,ENST00000636381,;	T	ENST00000338081	Transcript	missense_variant	282/9402	110/1326	37/441	C/Y	tGt/tAt	rs779227493	1		-1	DCX	HGNC	HGNC:2714	protein_coding	YES	CCDS14556.1	ENSP00000337697		A0A140LJL1	UPI000013D33F	NM_000555.3	deleterious_low_confidence(0)		1/7																			MODERATE	1	SNV	1			1										PASS		rs779227493	.												T	3	4	63	111410865	111410865	C	T	1	0	0	0	0	1	0	0	0	4121	478	17	3		3	DCX	23	111410865	Missense_Mutation	SNP	C	C3N-00704_TP	2723330	111410865	44630030	630	21127											
ZCCHC16	0	.	GRCh38	chrX	112454981	112454981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactacctacttgacagctCtccaaatctctaatcctgca	11	12	4	14	0	2	2	0	2	2	0	5	2	3	2	3	0	4	2	3	0	4	4	novel		C3N-00704_TP	C3N-00704_NB	C	C																c.253C>T	p.Leu85Phe	p.L85F	ENST00000340433	1/1	103	81	22	170	170	0	strelka-varscan-mutect	ZCCHC16,missense_variant,p.Leu85Phe,ENST00000340433,NM_001004308.2;	T	ENST00000340433	Transcript	missense_variant	482/2613	253/933	85/310	L/F	Ctc/Ttc		1		1	ZCCHC16	HGNC	HGNC:25214	protein_coding	YES	CCDS35369.1	ENSP00000340590	Q6ZR62		UPI00001975B5	NM_001004308.2	tolerated(0.3)		1/1		hmmpanther:PTHR15503:SF8,hmmpanther:PTHR15503																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	63	112454981	112454981	C	T	1	0	0	0	0	1	0	0	0	18159	913	32	3		3	ZCCHC16	23	112454981	Missense_Mutation	SNP	C	C3N-00704_TP	1044116	112454981	43585914	631	21128											
PLS3	0	.	GRCh38	chrX	115636939	115636939	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactttcatttggaaaactcGggctggcaaaaaattaacaa	17	10	7	7	1	1	0	1	0	0	0	2	1	1	1	0	3	3	2	0	3	8	3	rs782019404		C3N-00704_TP	C3N-00704_NB	G	G																c.852G>T	p.=	p.S284S	ENST00000355899	8/16	113	90	23	208	207	1	strelka-varscan-mutect	PLS3,synonymous_variant,p.=,ENST00000355899,NM_005032.6;PLS3,synonymous_variant,p.=,ENST00000420625,;PLS3,synonymous_variant,p.=,ENST00000539310,NM_001172335.2,NM_001136025.4,NM_001282338.1;PLS3,synonymous_variant,p.=,ENST00000289290,NM_001282337.1;PLS3,upstream_gene_variant,,ENST00000497870,;PLS3,downstream_gene_variant,,ENST00000473026,;PLS3,3_prime_UTR_variant,,ENST00000481823,;PLS3,upstream_gene_variant,,ENST00000466150,;	T	ENST00000355899	Transcript	synonymous_variant	939/3280	852/1893	284/630	S	tcG/tcT	rs782019404	1		1	PLS3	HGNC	HGNC:9091	protein_coding	YES	CCDS14568.1	ENSP00000348163	P13797		UPI000000D962	NM_005032.6			8/16		PROSITE_profiles:PS50021,hmmpanther:PTHR19961,hmmpanther:PTHR19961:SF32,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576																	LOW	1	SNV	1			1										PASS		rs782019404	.												T	2	4	63	115636939	115636939	G	T	1	0	0	0	0	0	0	0	1	12216	1103	39	1		1	PLS3	23	115636939	Silent	SNP	G	C3N-00704_TP	3181958	115636939	40403956	632	21129											
UBE2A	0	.	GRCh38	chrX	119581583	119581583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttagatttgtctctaagatGttccatccaaatggcaagta	12	14	8	7	0	1	2	0	0	1	2	4	2	3	2	2	1	0	4	2	1	5	5	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.228G>A	p.Met76Ile	p.M76I	ENST00000371558	4/6	73	59	14	230	229	1	strelka-varscan-mutect	UBE2A,start_lost,p.Met1?,ENST00000630695,;UBE2A,missense_variant,p.Met76Ile,ENST00000371558,NM_003336.3;UBE2A,missense_variant,p.Met76Ile,ENST00000631185,;UBE2A,missense_variant,p.Met43Ile,ENST00000628549,NM_001282161.1;UBE2A,missense_variant,p.Met76Ile,ENST00000346330,;UBE2A,intron_variant,,ENST00000625938,NM_181762.2;UBE2A,3_prime_UTR_variant,,ENST00000629303,;UBE2A,non_coding_transcript_exon_variant,,ENST00000371569,;UBE2A,upstream_gene_variant,,ENST00000628734,;	A	ENST00000371558	Transcript	missense_variant	473/1874	228/459	76/152	M/I	atG/atA		1		1	UBE2A	HGNC	HGNC:12472	protein_coding	YES	CCDS14580.1	ENSP00000360613	P49459		UPI00000043A0	NM_003336.3	tolerated(0.26)		4/6		Gene3D:3.10.110.10,Pfam_domain:PF00179,PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF92,SMART_domains:SM00212,Superfamily_domains:SSF54495																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	63	119581583	119581583	G	A	1	0	0	0	0	1	0	0	0	17366	1377	48	3		3	UBE2A	23	119581583	Missense_Mutation	SNP	G	C3N-00704_TP	3944644	119581583	36459312	633	21130											
MAGEC1	0	.	GRCh38	chrX	141906934	141906934	+	Silent	SNP	C	C	A																															agtacttttgagggttttccCcagtctcctctccagattcc																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1530C>A	p.=	p.P510P	ENST00000285879	4/4	221	189	32	374	373	1	strelka-varscan-mutect	MAGEC1,synonymous_variant,p.=,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,;	A	ENST00000285879	Transcript	synonymous_variant	1816/4270	1530/3429	510/1142	P	ccC/ccA		1		1	MAGEC1	HGNC	HGNC:6812	protein_coding	YES	CCDS35417.1	ENSP00000285879	O60732		UPI000006F2FD	NM_005462.4			4/4		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1360196589	.												A	2	1	63	141906934	141906934	C	A	1	0	0	0	0	0	0	0	1	9098	610	22	2		2	MAGEC1	23	141906934	Silent	SNP	C	C3N-00704_TP	22325351	141906934	14133961	634	21131	448	2									
MAGEC1	0	.	GRCh38	chrX	141906935	141906935	+	Missense_Mutation	SNP	C	C	G																															gtacttttgagggttttcccCagtctcctctccagattcct																								novel		C3N-00704_TP	C3N-00704_NB	C	C																c.1531C>G	p.Gln511Glu	p.Q511E	ENST00000285879	4/4	217	186	31	370	370	0	strelka-varscan-mutect	MAGEC1,missense_variant,p.Gln511Glu,ENST00000285879,NM_005462.4;MAGEC1,intron_variant,,ENST00000406005,;	G	ENST00000285879	Transcript	missense_variant	1817/4270	1531/3429	511/1142	Q/E	Cag/Gag		1		1	MAGEC1	HGNC	HGNC:6812	protein_coding	YES	CCDS35417.1	ENSP00000285879	O60732		UPI000006F2FD	NM_005462.4	deleterious_low_confidence(0)		4/4		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs888074935	.												G	3	3	63	141906935	141906935	C	G	1	0	0	0	0	1	0	0	0	9098	595	21	4		4	MAGEC1	23	141906935	Missense_Mutation	SNP	C	C3N-00704_TP	1	141906935	14133960	635	21132	448	2									
MAGEC2	0	.	GRCh38	chrX	142203439	142203439	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatgaactcacgggctctCttgagtatcacaggaaagta	12	10	9	10	1	3	2	2	2	1	0	5	3	4	3	1	2	1	3	1	2	4	3			C3N-00704_TP	C3N-00704_NB	C	C																c.549G>C	p.Lys183Asn	p.K183N	ENST00000247452	3/3	138	108	30	202	202	0	strelka-varscan-mutect	MAGEC2,missense_variant,p.Lys183Asn,ENST00000247452,NM_016249.3;	G	ENST00000247452	Transcript	missense_variant	897/1991	549/1122	183/373	K/N	aaG/aaC	COSM3800438	1		-1	MAGEC2	HGNC	HGNC:13574	protein_coding	YES	CCDS14678.1	ENSP00000354660	Q9UBF1		UPI000012F059	NM_016249.3	deleterious(0.05)		3/3		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF29,SMART_domains:SM01373											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	63	142203439	142203439	C	G	1	0	0	0	0	1	0	0	0	9099	912	32	4		4	MAGEC2	23	142203439	Missense_Mutation	SNP	C	C3N-00704_TP	296504	142203439	13837456	636	21133											
MAMLD1	0	.	GRCh38	chrX	150470315	150470315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagttgcagccaagttactGgcatgtcacttcagatccca	10	11	8	12	0	2	1	2	0	0	1	3	1	3	1	2	1	3	4	2	1	3	4	novel		C3N-00704_TP	C3N-00704_NB	G	G																c.667G>T	p.Gly223Cys	p.G223C	ENST00000432680	3/5	90	76	14	162	162	0	strelka-varscan-mutect	MAMLD1,missense_variant,p.Gly248Cys,ENST00000370401,;MAMLD1,missense_variant,p.Gly248Cys,ENST00000262858,NM_005491.4;MAMLD1,missense_variant,p.Gly223Cys,ENST00000426613,NM_001177466.2;MAMLD1,missense_variant,p.Gly223Cys,ENST00000432680,NM_001177465.2;MAMLD1,downstream_gene_variant,,ENST00000358892,;MAMLD1,downstream_gene_variant,,ENST00000468306,;	T	ENST00000432680	Transcript	missense_variant	842/3224	667/2997	223/998	G/C	Ggc/Tgc		1		1	MAMLD1	HGNC	HGNC:2568	protein_coding	YES	CCDS55526.1	ENSP00000414517	Q13495		UPI00017A6EBC	NM_001177465.2	deleterious(0)		3/5		hmmpanther:PTHR15275,hmmpanther:PTHR15275:SF0																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	63	150470315	150470315	G	T	1	0	0	0	0	1	0	0	0	9129	1348	47	2		2	MAMLD1	23	150470315	Missense_Mutation	SNP	G	C3N-00704_TP	8266876	150470315	5570580	637	21134											
PASD1	0	.	GRCh38	chrX	151672493	151672493	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgtggggaatgagagggTgcagatatgcctgcaaaacc	12	7	14	8	1	0	2	0	1	0	2	1	4	0	3	2	3	4	2	2	3	4	1	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.1748T>C	p.Val583Ala	p.V583A	ENST00000370357	14/16	461	378	83	604	604	0	strelka-varscan-mutect	PASD1,missense_variant,p.Val583Ala,ENST00000370357,NM_173493.2;PASD1,non_coding_transcript_exon_variant,,ENST00000464219,;RP11-45D17.1,downstream_gene_variant,,ENST00000413236,;	C	ENST00000370357	Transcript	missense_variant	1993/3163	1748/2322	583/773	V/A	gTg/gCg		1		1	PASD1	HGNC	HGNC:20686	protein_coding	YES	CCDS35431.1	ENSP00000359382	Q8IV76		UPI0000074686	NM_173493.2	tolerated(0.13)		14/16																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	63	151672493	151672493	T	C	1	0	0	0	0	1	0	0	0	11552	1696	59	5		5	PASD1	23	151672493	Missense_Mutation	SNP	T	C3N-00704_TP	1202178	151672493	4368402	638	21135											
PLXNB3	0	.	GRCh38	chrX	153767100	153767100	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggctgtcactggcccTgtaatcgacagccctgactg	6	9	12	14	2	1	1	1	1	0	0	2	2	1	1	3	2	1	2	3	2	1	1	novel		C3N-00704_TP	C3N-00704_NB	T	T																c.342T>G	p.=	p.P114P	ENST00000538966	4/37	156	91	65	222	222	0	strelka-varscan-mutect	PLXNB3,synonymous_variant,p.=,ENST00000538966,NM_001163257.1;PLXNB3,synonymous_variant,p.=,ENST00000361971,NM_005393.2;U52111.14,upstream_gene_variant,,ENST00000434284,;U52111.14,upstream_gene_variant,,ENST00000416854,;	G	ENST00000538966	Transcript	synonymous_variant	613/6377	342/5799	114/1932	P	ccT/ccG		1		1	PLXNB3	HGNC	HGNC:9105	protein_coding	YES	CCDS55536.1	ENSP00000442736	Q9ULL4		UPI0001AFF680	NM_001163257.1			4/37		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,SMART_domains:SM00630,Superfamily_domains:SSF101912																	LOW		SNV	5			1										PASS		.	.												G	2	3	63	153767100	153767100	T	G	1	0	0	0	0	0	0	0	1	12231	1567	55	5		5	PLXNB3	23	153767100	Silent	SNP	T	C3N-00704_TP	2094607	153767100	2273795	639	21136											
NPHP4	0	.	GRCh38	chr1	5879533	5879533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgttcctcctgaccttctctCcatttctccttcccttgcag	3	17	4	17	0	2	1	0	1	2	0	8	1	6	1	6	0	1	2	6	0	0	5	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.2708G>A	p.Gly903Glu	p.G903E	ENST00000622020	20/20	212	193	19	180	180	0	strelka-varscan-mutect	NPHP4,missense_variant,p.Gly903Glu,ENST00000622020,;NPHP4,intron_variant,,ENST00000378156,NM_001291594.1,NM_001291593.1,NM_015102.4;NPHP4,intron_variant,,ENST00000478423,;NPHP4,missense_variant,p.Gly903Glu,ENST00000489180,;NPHP4,intron_variant,,ENST00000378169,;NPHP4,intron_variant,,ENST00000470763,;NPHP4,upstream_gene_variant,,ENST00000506941,;	T	ENST00000622020	Transcript	missense_variant	2976/3004	2708/2736	903/911	G/E	gGa/gAa		1		-1	NPHP4	HGNC	HGNC:19104	protein_coding			ENSP00000481831	O75161		UPI0000074519		tolerated_low_confidence(0.09)		20/20																			MODERATE		SNV	5			1										PASS		.	.												T	3	4	64	5879533	5879533	C	T	1	0	0	0	0	1	0	0	0	10629	855	30	3		3	NPHP4	1	5879533	Missense_Mutation	SNP	C	C3N-00737_TP		5879533	243076889	1	21137											
TMEM82	0	.	GRCh38	chr1	15742601	15742601	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctcctggctccccggcctCccctccctcgagtggggctc	1	8	10	22	2	0	0	0	0	0	0	6	1	4	0	8	4	0	2	8	4	0	0	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.42C>T	p.=	p.L14L	ENST00000375782	1/6	109	97	12	118	118	0	strelka-varscan-mutect	TMEM82,synonymous_variant,p.=,ENST00000375782,NM_001013641.2;SLC25A34,downstream_gene_variant,,ENST00000294454,NM_207348.2;RP11-169K16.4,intron_variant,,ENST00000418525,;TMEM82,non_coding_transcript_exon_variant,,ENST00000465575,;SLC25A34,downstream_gene_variant,,ENST00000489568,;SLC25A34,downstream_gene_variant,,ENST00000465495,;	T	ENST00000375782	Transcript	synonymous_variant	180/1520	42/1032	14/343	L	ctC/ctT		1		1	TMEM82	HGNC	HGNC:32350	protein_coding	YES	CCDS30608.1	ENSP00000364938	A0PJX8		UPI0000458A15	NM_001013641.2			1/6		Pfam_domain:PF15816,hmmpanther:PTHR35257,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	64	15742601	15742601	C	T	1	0	0	0	0	0	0	0	1	16683	842	30	3		3	TMEM82	1	15742601	Silent	SNP	C	C3N-00737_TP	9863068	15742601	233213821	2	21138											
WNT4	0	.	GRCh38	chr1	22142881	22142881	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgagaagacggcgaaGacgaggaggcgcagcgaacg	12	1	19	9	7	0	3	0	1	0	3	0	8	0	4	0	4	2	2	0	4	3	0	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.42C>A	p.=	p.V14V	ENST00000290167	1/5	182	154	28	88	88	0	strelka-varscan-mutect	WNT4,synonymous_variant,p.=,ENST00000290167,NM_030761.4;WNT4,intron_variant,,ENST00000441048,;	T	ENST00000290167	Transcript	synonymous_variant	86/3845	42/1056	14/351	V	gtC/gtA		1		-1	WNT4	HGNC	HGNC:12783	protein_coding	YES	CCDS223.1	ENSP00000290167	P56705		UPI0000048EC6	NM_030761.4			1/5		Transmembrane_helices:TMhelix,hmmpanther:PTHR12027:SF101,hmmpanther:PTHR12027																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	64	22142881	22142881	G	T	1	0	0	0	0	0	0	0	1	17946	929	33	2		2	WNT4	1	22142881	Silent	SNP	G	C3N-00737_TP	6400280	22142881	226813541	3	21139											
ADGRB2	0	.	GRCh38	chr1	31733138	31733138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacgcaggagctccagagtGaggccctgaggggacagtgg	9	4	17	11	1	0	3	0	2	0	1	1	5	1	5	3	5	1	2	3	5	0	0			C3N-00737_TP	C3N-00737_NB	G	G																c.3458C>T	p.Ser1153Leu	p.S1153L	ENST00000373655	26/33	107	101	6	126	126	0	strelka-varscan-mutect	ADGRB2,missense_variant,p.Ser1153Leu,ENST00000373658,;ADGRB2,missense_variant,p.Ser1153Leu,ENST00000373655,NM_001294335.1;ADGRB2,missense_variant,p.Ser1053Leu,ENST00000398542,;ADGRB2,missense_variant,p.Ser1120Leu,ENST00000527361,NM_001294336.1;ADGRB2,missense_variant,p.Ser1068Leu,ENST00000398556,;ADGRB2,missense_variant,p.Ser1086Leu,ENST00000398547,;ADGRB2,missense_variant,p.Ser1141Leu,ENST00000398538,;ADGRB2,non_coding_transcript_exon_variant,,ENST00000465256,;ADGRB2,non_coding_transcript_exon_variant,,ENST00000530999,;	A	ENST00000373655	Transcript	missense_variant	3800/5400	3458/4755	1153/1584	S/L	tCa/tTa	COSM4851018	1		-1	ADGRB2	HGNC	HGNC:944	protein_coding	YES	CCDS72747.1	ENSP00000362759	O60241		UPI000046FEC7	NM_001294335.1	deleterious(0)		26/33		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF41,hmmpanther:PTHR12011,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249											1						MODERATE	1	SNV	1		1	1										PASS		rs1283190767	.												A	3	1	64	31733138	31733138	G	A	1	0	0	0	0	1	0	0	0	356	1304	45	3		3	ADGRB2	1	31733138	Missense_Mutation	SNP	G	C3N-00737_TP	9590257	31733138	217223284	4	21140											
ZMYM4	0	.	GRCh38	chr1	35414052	35414052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgaacttaccaaactcttGaaaatatgggaacctacaat	17	11	5	8	0	1	2	0	2	1	0	1	3	1	3	2	1	5	0	2	1	9	5	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.4029G>C	p.Leu1343Phe	p.L1343F	ENST00000314607	27/30	171	155	16	219	219	0	strelka-varscan-mutect	ZMYM4,missense_variant,p.Leu1343Phe,ENST00000314607,NM_005095.2;ZMYM4,missense_variant,p.Leu1002Phe,ENST00000457946,;	C	ENST00000314607	Transcript	missense_variant	4109/6994	4029/4647	1343/1548	L/F	ttG/ttC		1		1	ZMYM4	HGNC	HGNC:13055	protein_coding	YES	CCDS389.1	ENSP00000322915	Q5VZL5		UPI0000203EE6	NM_005095.2	deleterious(0)		27/30		hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF10																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	64	35414052	35414052	G	C	1	0	0	0	0	1	0	0	0	18282	1281	45	4		4	ZMYM4	1	35414052	Missense_Mutation	SNP	G	C3N-00737_TP	3680914	35414052	213542370	5	21141											
CFAP57	0	.	GRCh38	chr1	43198642	43198642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atactctgttagaggatgcgGagaggtaaaaaaaaaactgc	17	8	11	5	1	1	2	0	0	1	2	1	4	1	3	0	3	4	2	0	3	7	3	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.1424G>A	p.Gly475Glu	p.G475E	ENST00000610710	8/24	280	257	23	246	246	0	strelka-varscan-mutect	CFAP57,missense_variant,p.Gly475Glu,ENST00000372492,;CFAP57,missense_variant,p.Gly475Glu,ENST00000610710,NM_001195831.2;CFAP57,missense_variant,p.Gly475Glu,ENST00000528956,NM_001167965.1,NM_152498.3;RNA5SP46,downstream_gene_variant,,ENST00000362370,;EBNA1BP2,intron_variant,,ENST00000461557,;EBNA1BP2,intron_variant,,ENST00000474566,;EBNA1BP2,intron_variant,,ENST00000466927,;CFAP57,3_prime_UTR_variant,,ENST00000533339,;	A	ENST00000610710	Transcript	missense_variant	1570/4162	1424/3852	475/1283	G/E	gGa/gAa		1		1	CFAP57	HGNC	HGNC:26485	protein_coding	YES	CCDS72768.1	ENSP00000479773		A0A087WVY5	UPI000223C368	NM_001195831.2	deleterious(0.02)		8/24		Gene3D:2.130.10.10,hmmpanther:PTHR32215,Superfamily_domains:SSF50978																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	64	43198642	43198642	G	A	1	0	0	0	0	1	0	0	0	3026	1188	41	3		3	CFAP57	1	43198642	Missense_Mutation	SNP	G	C3N-00737_TP	7784590	43198642	205757780	6	21142											
ZZZ3	0	.	GRCh38	chr1	77565727	77565727	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtctaagaatgtctcTgacctataaataggttctaa	12	15	6	8	0	4	2	0	1	4	1	6	2	4	2	1	1	0	1	1	1	7	6	rs750092524		C3N-00737_TP	C3N-00737_NB	T	T																c.2625A>G	p.=	p.S875S	ENST00000370801	15/15	173	156	17	198	198	0	strelka-varscan-mutect	ZZZ3,synonymous_variant,p.=,ENST00000370801,NM_015534.4;ZZZ3,synonymous_variant,p.=,ENST00000370798,NM_001308237.1;ZZZ3,non_coding_transcript_exon_variant,,ENST00000476275,;ZZZ3,non_coding_transcript_exon_variant,,ENST00000481346,;	C	ENST00000370801	Transcript	synonymous_variant	3101/4328	2625/2712	875/903	S	tcA/tcG	rs750092524	1		-1	ZZZ3	HGNC	HGNC:24523	protein_coding	YES	CCDS677.1	ENSP00000359837	Q8IYH5		UPI0000074256	NM_015534.4			15/15		hmmpanther:PTHR22705																	LOW	1	SNV	1			1										PASS		rs750092524	.												C	2	2	64	77565727	77565727	T	C	1	0	0	0	0	0	0	0	1	18860	1567	55	5		5	ZZZ3	1	77565727	Silent	SNP	T	C3N-00737_TP	34367085	77565727	171390695	7	21143											
COL11A1	0	.	GRCh38	chr1	102965505	102965505	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgtggtccaaccactccCcctggcccaggagggccggt	6	6	12	17	1	0	0	0	0	0	0	2	1	2	1	7	5	1	0	7	5	1	0			C3N-00737_TP	C3N-00737_NB	C	C																c.2898G>T	p.=	p.G966G	ENST00000370096	38/67	361	331	30	312	310	2	strelka-varscan-mutect	COL11A1,synonymous_variant,p.=,ENST00000358392,NM_080629.2;COL11A1,synonymous_variant,p.=,ENST00000370096,NM_001854.3;COL11A1,synonymous_variant,p.=,ENST00000353414,NM_001190709.1;COL11A1,synonymous_variant,p.=,ENST00000512756,NM_080630.3;COL11A1,3_prime_UTR_variant,,ENST00000635193,;COL11A1,upstream_gene_variant,,ENST00000465209,;	A	ENST00000370096	Transcript	synonymous_variant	3211/7286	2898/5421	966/1806	G	ggG/ggT	COSM5461894,COSM5461895	1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3			38/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	64	102965505	102965505	C	A	1	0	0	0	0	0	0	0	1	3455	610	22	2		2	COL11A1	1	102965505	Silent	SNP	C	C3N-00737_TP	25399778	102965505	145990917	8	21144											
HIST2H3D	0	.	GRCh38	chr1	149813655	149813655	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgccgccggtcgacttGcgggcagtctgcttagtacg	4	10	14	13	5	1	0	0	0	1	0	2	1	1	0	3	2	4	3	3	2	2	4	rs781922786		C3N-00737_TP	C3N-00737_NB	G	G																c.27C>T	p.=	p.R9R	ENST00000331491	1/1	314	212	102	233	233	0	strelka-varscan-mutect	HIST2H3D,synonymous_variant,p.=,ENST00000331491,NM_001123375.2;HIST2H2BF,upstream_gene_variant,,ENST00000369167,NM_001024599.4;HIST2H2BF,upstream_gene_variant,,ENST00000545683,NM_001161334.1;HIST2H2BF,upstream_gene_variant,,ENST00000469483,;HIST2H2BF,upstream_gene_variant,,ENST00000420462,;HIST2H2BF,upstream_gene_variant,,ENST00000620458,;	A	ENST00000331491	Transcript	synonymous_variant	27/411	27/411	9/136	R	cgC/cgT	rs781922786	1		-1	HIST2H3D	HGNC	HGNC:25311	protein_coding	YES	CCDS41388.1	ENSP00000333277	Q71DI3		UPI0000000586	NM_001123375.2			1/1		hmmpanther:PTHR11426,Gene3D:1.10.20.10,Pfam_domain:PF00125,Superfamily_domains:SSF47113,Prints_domain:PR00622																	LOW		SNV				1										PASS		rs781922786	.												A	2	1	64	149813655	149813655	G	A	1	0	0	0	0	0	0	0	1	7069	1306	46	3		3	HIST2H3D	1	149813655	Silent	SNP	G	C3N-00737_TP	46848150	149813655	99142767	9	21145											
SETDB1	0	.	GRCh38	chr1	150964348	150964348	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtggggccattgaatgcaGaggacgtcttctttagagga	9	11	14	7	1	2	3	0	1	2	2	2	5	2	5	1	4	1	1	1	4	2	4	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.3860G>C	p.Arg1287Thr	p.R1287T	ENST00000271640	22/22	331	300	31	246	246	0	strelka-varscan-mutect	SETDB1,missense_variant,p.Arg1287Thr,ENST00000271640,NM_001145415.1;SETDB1,missense_variant,p.Arg1286Thr,ENST00000368969,NM_012432.3;CERS2,missense_variant,p.Ser368Cys,ENST00000561294,;SETDB1,downstream_gene_variant,,ENST00000498193,;CERS2,downstream_gene_variant,,ENST00000271688,NM_181746.3;CERS2,downstream_gene_variant,,ENST00000368954,NM_022075.4;CERS2,downstream_gene_variant,,ENST00000560793,;CERS2,downstream_gene_variant,,ENST00000368949,;CERS2,downstream_gene_variant,,ENST00000361419,;CERS2,downstream_gene_variant,,ENST00000558062,;CERS2,downstream_gene_variant,,ENST00000421609,;CERS2,downstream_gene_variant,,ENST00000457392,;RP11-316M1.12,upstream_gene_variant,,ENST00000561111,;RP11-316M1.12,upstream_gene_variant,,ENST00000560481,;CERS2,downstream_gene_variant,,ENST00000345896,;SETDB1,downstream_gene_variant,,ENST00000459773,;SETDB1,non_coding_transcript_exon_variant,,ENST00000497314,;CERS2,non_coding_transcript_exon_variant,,ENST00000482825,;CERS2,downstream_gene_variant,,ENST00000460664,;CERS2,downstream_gene_variant,,ENST00000559020,;SETDB1,downstream_gene_variant,,ENST00000528749,;SETDB1,downstream_gene_variant,,ENST00000533529,;CERS2,downstream_gene_variant,,ENST00000559660,;	C	ENST00000271640	Transcript	missense_variant	4050/4437	3860/3876	1287/1291	R/T	aGa/aCa		1		1	SETDB1	HGNC	HGNC:10761	protein_coding	YES	CCDS44217.1	ENSP00000271640	Q15047		UPI0000135897	NM_001145415.1	deleterious(0)		22/22		Gene3D:2.170.270.10,PROSITE_profiles:PS50868,PROSITE_profiles:PS51573																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	64	150964348	150964348	G	C	1	0	0	0	0	1	0	0	0	14416	942	33	4		4	SETDB1	1	150964348	Missense_Mutation	SNP	G	C3N-00737_TP	1150693	150964348	97992074	10	21146											
FLAD1	0	.	GRCh38	chr1	154988038	154988038	+	Silent	SNP	A	A	G																															atcatcaggtggatgcagccAtcatcttcaacccctcccct																								novel		C3N-00737_TP	C3N-00737_NB	A	A																c.9A>G	p.=	p.P3P	ENST00000368431	3/3	122	111	11	100	100	0	strelka-varscan-mutect	FLAD1,synonymous_variant,p.=,ENST00000368431,NM_001184892.1;FLAD1,intron_variant,,ENST00000368433,;FLAD1,intron_variant,,ENST00000292180,NM_025207.4;FLAD1,intron_variant,,ENST00000368432,NM_001184891.1;FLAD1,intron_variant,,ENST00000315144,NM_201398.2;FLAD1,upstream_gene_variant,,ENST00000295530,;FLAD1,upstream_gene_variant,,ENST00000368428,;FLAD1,non_coding_transcript_exon_variant,,ENST00000492620,;FLAD1,intron_variant,,ENST00000487371,;FLAD1,upstream_gene_variant,,ENST00000489992,;FLAD1,upstream_gene_variant,,ENST00000477609,;FLAD1,upstream_gene_variant,,ENST00000481758,;	G	ENST00000368431	Transcript	synonymous_variant	829/1803	9/885	3/294	P	ccA/ccG		1		1	FLAD1	HGNC	HGNC:24671	protein_coding		CCDS53372.1	ENSP00000357416	Q8NFF5		UPI0000072FC0	NM_001184892.1			3/3																			LOW		SNV	1			1										PASS		.	.												G	2	3	64	154988038	154988038	A	G	1	0	0	0	0	0	0	0	1	5782	204	8	5		5	FLAD1	1	154988038	Silent	SNP	A	C3N-00737_TP	4023690	154988038	93968384	11	21147	449	2									
FLAD1	0	.	GRCh38	chr1	154988043	154988043	+	Missense_Mutation	SNP	C	C	G																															caggtggatgcagccatcatCttcaacccctccccttcatc																								novel		C3N-00737_TP	C3N-00737_NB	C	C																c.14C>G	p.Ser5Cys	p.S5C	ENST00000368431	3/3	131	119	12	107	107	0	strelka-varscan-mutect	FLAD1,missense_variant,p.Ser5Cys,ENST00000368431,NM_001184892.1;FLAD1,intron_variant,,ENST00000368433,;FLAD1,intron_variant,,ENST00000292180,NM_025207.4;FLAD1,intron_variant,,ENST00000368432,NM_001184891.1;FLAD1,intron_variant,,ENST00000315144,NM_201398.2;FLAD1,upstream_gene_variant,,ENST00000295530,;FLAD1,upstream_gene_variant,,ENST00000368428,;FLAD1,non_coding_transcript_exon_variant,,ENST00000492620,;FLAD1,intron_variant,,ENST00000487371,;FLAD1,upstream_gene_variant,,ENST00000489992,;FLAD1,upstream_gene_variant,,ENST00000477609,;FLAD1,upstream_gene_variant,,ENST00000481758,;	G	ENST00000368431	Transcript	missense_variant	834/1803	14/885	5/294	S/C	tCt/tGt		1		1	FLAD1	HGNC	HGNC:24671	protein_coding		CCDS53372.1	ENSP00000357416	Q8NFF5		UPI0000072FC0	NM_001184892.1	deleterious_low_confidence(0.01)		3/3																			MODERATE		SNV	1			1										PASS		.	.												G	3	3	64	154988043	154988043	C	G	1	0	0	0	0	1	0	0	0	5782	913	32	4		4	FLAD1	1	154988043	Missense_Mutation	SNP	C	C3N-00737_TP	5	154988043	93968379	12	21148	449	2									
IQGAP3	0	.	GRCh38	chr1	156563595	156563595	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattggccaagatgccccCgatcttgctgaaggcaggca	9	8	11	13	1	2	2	1	1	1	1	2	3	2	2	3	3	2	3	3	3	2	2	rs200795481		C3N-00737_TP	C3N-00737_NB	C	C																c.577G>T	p.Gly193Trp	p.G193W	ENST00000361170	7/38	249	160	89	134	134	0	strelka-varscan-mutect	IQGAP3,missense_variant,p.Gly193Trp,ENST00000361170,NM_178229.4;IQGAP3,missense_variant,p.Gly150Trp,ENST00000491900,;	A	ENST00000361170	Transcript	missense_variant	588/5988	577/4896	193/1631	G/W	Ggg/Tgg	rs200795481,COSM1983754	1		-1	IQGAP3	HGNC	HGNC:20669	protein_coding	YES	CCDS1144.1	ENSP00000354451	Q86VI3		UPI000046FFDD	NM_178229.4	deleterious(0)		7/38		hmmpanther:PTHR14149:SF10,hmmpanther:PTHR14149											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs200795481	.												A	3	1	64	156563595	156563595	C	A	1	0	0	0	0	1	0	0	0	7722	652	23	1		1	IQGAP3	1	156563595	Missense_Mutation	SNP	C	C3N-00737_TP	1575552	156563595	92392827	13	21149											
CD84	0	.	GRCh38	chr1	160548295	160548295	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgaagtcccaggaggtttActgtcctgtgtgctggcttt	5	15	12	9	0	0	1	0	1	0	0	2	2	2	2	2	3	2	3	2	3	2	4	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.999T>C	p.=	p.S333S	ENST00000311224	8/8	395	366	29	246	246	0	strelka-varscan-mutect	CD84,synonymous_variant,p.=,ENST00000368054,NM_003874.3;CD84,synonymous_variant,p.=,ENST00000534968,NM_001184882.1;CD84,synonymous_variant,p.=,ENST00000311224,NM_001184879.1;CD84,synonymous_variant,p.=,ENST00000368048,;CD84,3_prime_UTR_variant,,ENST00000368051,NM_001184881.1;RP11-528G1.2,intron_variant,,ENST00000446952,;CD84,non_coding_transcript_exon_variant,,ENST00000466767,;CD84,downstream_gene_variant,,ENST00000360056,;	G	ENST00000311224	Transcript	synonymous_variant	1066/1116	999/1038	333/345	S	agT/agC		1		-1	CD84	HGNC	HGNC:1704	protein_coding	YES	CCDS53396.1	ENSP00000312367	Q9UIB8		UPI0000071B5F	NM_001184879.1			8/8		hmmpanther:PTHR12080:SF50,hmmpanther:PTHR12080																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	64	160548295	160548295	A	G	1	0	0	0	0	0	0	0	1	2746	388	14	5		5	CD84	1	160548295	Silent	SNP	A	C3N-00737_TP	3984700	160548295	88408127	14	21150											
CD48	0	.	GRCh38	chr1	160685007	160685007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtacagtgcgccactctgagGatcaagtctgaccctgcctt	8	10	10	13	1	3	2	1	2	2	0	3	3	3	3	3	1	3	1	3	1	2	2	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.265C>A	p.Pro89Thr	p.P89T	ENST00000613788	2/3	411	365	46	288	287	1	strelka-varscan-mutect	CD48,missense_variant,p.Pro89Thr,ENST00000368045,;CD48,missense_variant,p.Pro89Thr,ENST00000613788,NM_001256030.1;CD48,missense_variant,p.Pro89Thr,ENST00000368046,NM_001778.3;RP11-404F10.2,non_coding_transcript_exon_variant,,ENST00000628340,;RP11-404F10.2,non_coding_transcript_exon_variant,,ENST00000598917,;RP11-404F10.2,non_coding_transcript_exon_variant,,ENST00000630436,;RP11-404F10.2,non_coding_transcript_exon_variant,,ENST00000621431,;RP11-404F10.2,non_coding_transcript_exon_variant,,ENST00000626085,;RP11-404F10.2,non_coding_transcript_exon_variant,,ENST00000627996,;RP11-404F10.2,intron_variant,,ENST00000627799,;RP11-404F10.2,downstream_gene_variant,,ENST00000443928,;RP11-404F10.2,downstream_gene_variant,,ENST00000627180,;RP11-404F10.2,downstream_gene_variant,,ENST00000588034,;	T	ENST00000613788	Transcript	missense_variant	333/1500	265/759	89/252	P/T	Cct/Act		1		-1	CD48	HGNC	HGNC:1683	protein_coding	YES	CCDS72955.1	ENSP00000484431		A0A087X1S7	UPI00024336A1	NM_001256030.1	tolerated(0.57)		2/3		hmmpanther:PTHR12080:SF47,hmmpanther:PTHR12080,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	160685007	160685007	G	T	1	0	0	0	0	1	0	0	0	2724	1174	41	2		2	CD48	1	160685007	Missense_Mutation	SNP	G	C3N-00737_TP	136712	160685007	88271415	15	21151											
HSD17B7	0	.	GRCh38	chr1	162799766	162799766	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggaactggagcctctcctCtgtcacagtgacaatccatc	9	9	9	14	1	3	1	1	1	2	0	6	3	4	3	3	2	2	0	3	2	2	0	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.471C>G	p.=	p.L157L	ENST00000254521	5/9	157	138	19	146	145	1	varscan-mutect	HSD17B7,synonymous_variant,p.=,ENST00000254521,NM_016371.3;HSD17B7,downstream_gene_variant,,ENST00000367913,NM_001304513.1,NM_001304512.1;HSD17B7,non_coding_transcript_exon_variant,,ENST00000485405,;HSD17B7,non_coding_transcript_exon_variant,,ENST00000463037,;HSD17B7,non_coding_transcript_exon_variant,,ENST00000484251,;HSD17B7,3_prime_UTR_variant,,ENST00000466176,;HSD17B7,non_coding_transcript_exon_variant,,ENST00000494450,;HSD17B7,upstream_gene_variant,,ENST00000488656,;HSD17B7,upstream_gene_variant,,ENST00000470195,;	G	ENST00000254521	Transcript	synonymous_variant	526/1190	471/1026	157/341	L	ctC/ctG		1		1	HSD17B7	HGNC	HGNC:5215	protein_coding	YES	CCDS1242.1	ENSP00000254521	P56937	A0A024R913	UPI000004C64C	NM_016371.3			5/9		hmmpanther:PTHR24322:SF339,hmmpanther:PTHR24322,Gene3D:3.40.50.720,Pfam_domain:PF00106,Superfamily_domains:SSF51735																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	64	162799766	162799766	C	G	1	0	0	0	0	0	0	0	1	7282	900	32	4		4	HSD17B7	1	162799766	Silent	SNP	C	C3N-00737_TP	2114759	162799766	86156656	16	21152											
FASLG	0	.	GRCh38	chr1	172664379	172664379	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaggagctgaggaaagtggCccatttaacaggtctgtatc	13	9	12	7	0	1	1	0	1	1	0	2	3	1	3	1	4	2	2	1	4	4	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.440C>G	p.Ala147Gly	p.A147G	ENST00000367721	3/4	568	508	60	417	417	0	strelka-varscan-mutect	FASLG,missense_variant,p.Ala147Gly,ENST00000367721,NM_000639.2;FASLG,3_prime_UTR_variant,,ENST00000340030,NM_001302746.1;	G	ENST00000367721	Transcript	missense_variant	624/1888	440/846	147/281	A/G	gCc/gGc		1		1	FASLG	HGNC	HGNC:11936	protein_coding	YES	CCDS1304.1	ENSP00000356694	P48023	Q53ZZ1	UPI000000D91A	NM_000639.2	deleterious(0.01)		3/4		Gene3D:2.60.120.40,Prints_domain:PR01681,PROSITE_profiles:PS50049,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF33,SMART_domains:SM00207,Superfamily_domains:SSF49842																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	172664379	172664379	C	G	1	0	0	0	0	1	0	0	0	5542	739	26	4		4	FASLG	1	172664379	Missense_Mutation	SNP	C	C3N-00737_TP	9864613	172664379	76292043	17	21153											
XPR1	0	.	GRCh38	chr1	180787777	180787777	+	Missense_Mutation	SNP	G	G	T																															agatgaggacacagtaaagaGgtattttgccaagtttgaag																								novel		C3N-00737_TP	C3N-00737_NB	G	G																c.146G>T	p.Arg49Met	p.R49M	ENST00000367590	3/15	193	183	10	140	140	0	strelka-varscan-mutect	XPR1,missense_variant,p.Arg49Met,ENST00000367590,NM_004736.3;XPR1,missense_variant,p.Arg49Met,ENST00000367589,NM_001135669.1;	T	ENST00000367590	Transcript	missense_variant	344/8474	146/2091	49/696	R/M	aGg/aTg		1		1	XPR1	HGNC	HGNC:12827	protein_coding	YES	CCDS1340.1	ENSP00000356562	Q9UBH6	A0A024R911	UPI0000071111	NM_004736.3	deleterious(0)		3/15		PROSITE_profiles:PS51382,hmmpanther:PTHR10783,hmmpanther:PTHR10783:SF40,Pfam_domain:PF03105																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	180787777	180787777	G	T	1	0	0	0	0	1	0	0	0	18010	1000	35	2		2	XPR1	1	180787777	Missense_Mutation	SNP	G	C3N-00737_TP	8123398	180787777	68168645	18	21154	450	2									
XPR1	0	.	GRCh38	chr1	180787778	180787778	+	Missense_Mutation	SNP	G	G	T																															gatgaggacacagtaaagagGtattttgccaagtttgaaga																								novel		C3N-00737_TP	C3N-00737_NB	G	G																c.147G>T	p.Arg49Ser	p.R49S	ENST00000367590	3/15	195	183	12	139	138	1	strelka-varscan-mutect	XPR1,missense_variant,p.Arg49Ser,ENST00000367590,NM_004736.3;XPR1,missense_variant,p.Arg49Ser,ENST00000367589,NM_001135669.1;	T	ENST00000367590	Transcript	missense_variant	345/8474	147/2091	49/696	R/S	agG/agT		1		1	XPR1	HGNC	HGNC:12827	protein_coding	YES	CCDS1340.1	ENSP00000356562	Q9UBH6	A0A024R911	UPI0000071111	NM_004736.3	tolerated(0.11)		3/15		PROSITE_profiles:PS51382,hmmpanther:PTHR10783,hmmpanther:PTHR10783:SF40,Pfam_domain:PF03105																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	180787778	180787778	G	T	1	0	0	0	0	1	0	0	0	18010	1252	44	2		2	XPR1	1	180787778	Missense_Mutation	SNP	G	C3N-00737_TP	1	180787778	68168644	19	21155	450	2									
ASPM	0	.	GRCh38	chr1	197117787	197117787	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaattagtccaggatactatAcctgaataagtgatgctgct	14	12	8	7	0	0	2	0	2	0	0	1	3	1	3	2	1	4	2	2	1	7	5	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.4065+2T>A		p.X1355_splice	ENST00000367409		189	157	32	225	225	0	strelka-varscan-mutect	ASPM,splice_donor_variant,,ENST00000367409,NM_018136.4;ASPM,splice_donor_variant,,ENST00000294732,NM_001206846.1;ASPM,splice_donor_variant,,ENST00000367408,;ASPM,intron_variant,,ENST00000612785,;	T	ENST00000367409	Transcript	splice_donor_variant	-/10887	4065/10434	1355/3477				1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4				17/27																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	64	197117787	197117787	A	T	1	0	0	0	0	0	0	1	0	1203	405	14	4		4	ASPM	1	197117787	Splice_Site	SNP	A	C3N-00737_TP	16330009	197117787	51838635	20	21156											
KIF21B	0	.	GRCh38	chr1	200990706	200990706	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagctctggctggcccccTtcttctggaacttctttctg	4	15	9	13	0	5	1	0	1	5	0	5	2	5	2	2	3	2	2	2	3	2	4	novel		C3N-00737_TP	C3N-00737_NB	T	T																c.2705A>G	p.Lys902Arg	p.K902R	ENST00000422435	19/35	142	105	37	127	127	0	strelka-varscan-mutect	KIF21B,missense_variant,p.Lys902Arg,ENST00000332129,NM_017596.3;KIF21B,missense_variant,p.Lys902Arg,ENST00000422435,NM_001252100.1;KIF21B,missense_variant,p.Lys902Arg,ENST00000461742,NM_001252102.1;KIF21B,missense_variant,p.Lys902Arg,ENST00000360529,NM_001252103.1;	C	ENST00000422435	Transcript	missense_variant	3022/5519	2705/4914	902/1637	K/R	aAg/aGg		1		-1	KIF21B	HGNC	HGNC:29442	protein_coding	YES	CCDS58056.1	ENSP00000411831	O75037		UPI0000153E7C	NM_001252100.1	tolerated(0.19)		19/35		hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	64	200990706	200990706	T	C	1	0	0	0	0	1	0	0	0	8154	1609	56	5		5	KIF21B	1	200990706	Missense_Mutation	SNP	T	C3N-00737_TP	3872919	200990706	47965716	21	21157											
KDM5B	0	.	GRCh38	chr1	202740711	202740711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgaagccagtctctggctCtctgcactgagtctttcaga	7	12	9	13	0	4	3	1	2	3	1	6	3	4	3	2	1	2	2	2	1	1	1	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.3047G>C	p.Arg1016Thr	p.R1016T	ENST00000367265	20/27	166	124	42	118	118	0	strelka-varscan-mutect	KDM5B,missense_variant,p.Arg1016Thr,ENST00000367265,NM_006618.3;KDM5B,missense_variant,p.Arg1052Thr,ENST00000367264,;KDM5B,missense_variant,p.Arg858Thr,ENST00000235790,;KDM5B,upstream_gene_variant,,ENST00000472822,;	G	ENST00000367265	Transcript	missense_variant	4212/10345	3047/4635	1016/1544	R/T	aGa/aCa		1		-1	KDM5B	HGNC	HGNC:18039	protein_coding	YES	CCDS30974.1	ENSP00000356234	Q9UGL1		UPI0000032AA2	NM_006618.3	deleterious(0)		20/27		Pfam_domain:PF08429,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	202740711	202740711	C	G	1	0	0	0	0	1	0	0	0	8052	913	32	4		4	KDM5B	1	202740711	Missense_Mutation	SNP	C	C3N-00737_TP	1750005	202740711	46215711	22	21158											
URB2	0	.	GRCh38	chr1	229635251	229635251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcctgaggcacttactctCtgggggcacatggacgcagg	7	8	15	11	1	1	1	0	1	1	0	3	2	2	2	1	6	1	3	1	6	1	1	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.638C>G	p.Ser213Cys	p.S213C	ENST00000258243	4/10	173	142	31	184	184	0	strelka-varscan	URB2,missense_variant,p.Ser213Cys,ENST00000258243,NM_001314021.1,NM_014777.2;	G	ENST00000258243	Transcript	missense_variant	774/5613	638/4575	213/1524	S/C	tCt/tGt		1		1	URB2	HGNC	HGNC:28967	protein_coding	YES	CCDS31052.1	ENSP00000258243	Q14146		UPI000013CFBD	NM_001314021.1,NM_014777.2	deleterious(0.02)		4/10		hmmpanther:PTHR15682																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	229635251	229635251	C	G	1	0	0	0	0	1	0	0	0	17555	913	32	4		4	URB2	1	229635251	Missense_Mutation	SNP	C	C3N-00737_TP	26894540	229635251	19321171	23	21159											
TPO	0	.	GRCh38	chr2	1484746	1484746	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcttcggccatgccacgAtccacccgctggtgaggagg	6	7	13	15	4	0	1	0	1	0	0	3	3	2	2	5	4	1	2	5	4	0	1	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.1489A>G	p.Ile497Val	p.I497V	ENST00000345913	9/17	426	358	68	435	435	0	strelka-varscan-mutect	TPO,missense_variant,p.Ile426Val,ENST00000422464,;TPO,missense_variant,p.Ile497Val,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Ile497Val,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Ile497Val,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,missense_variant,p.Ile497Val,ENST00000346956,NM_175721.3;TPO,missense_variant,p.Ile324Val,ENST00000382198,NM_175722.3;TPO,missense_variant,p.Ile29Val,ENST00000446278,;TPO,missense_variant,p.Ile28Val,ENST00000469607,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;TPO,non_coding_transcript_exon_variant,,ENST00000462973,;	G	ENST00000345913	Transcript	missense_variant	1580/3145	1489/2802	497/933	I/V	Atc/Gtc		1		1	TPO	HGNC	HGNC:12015	protein_coding	YES	CCDS1643.1	ENSP00000318820	P07202		UPI000013D480	NM_000547.5	tolerated(0.38)		9/17		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF60,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457																	MODERATE	1	SNV	1			1										PASS		rs1288889178	.												G	3	3	64	1484746	1484746	A	G	1	0	0	0	0	1	0	0	0	16891	333	12	5		5	TPO	2	1484746	Missense_Mutation	SNP	A	C3N-00737_TP		1484746	240708783	24	21160											
PDIA6	0	.	GRCh38	chr2	10793142	10793142	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccgtcccccgaggcgatccTtcacgagctggcgcagagca	7	6	12	16	5	1	1	1	0	0	1	4	4	4	1	4	2	2	3	4	2	0	1	novel		C3N-00737_TP	C3N-00737_NB	T	T																c.563A>T	p.Lys188Met	p.K188M	ENST00000404371	7/15	274	250	24	224	223	1	strelka-varscan-mutect	PDIA6,missense_variant,p.Lys188Met,ENST00000404371,NM_001282704.1;PDIA6,missense_variant,p.Lys141Met,ENST00000381611,NM_001282706.1;PDIA6,missense_variant,p.Lys133Met,ENST00000540494,NM_001282707.1;PDIA6,missense_variant,p.Lys188Met,ENST00000617249,;PDIA6,missense_variant,p.Lys136Met,ENST00000272227,NM_005742.3;PDIA6,missense_variant,p.Lys184Met,ENST00000404824,NM_001282705.1;PDIA6,downstream_gene_variant,,ENST00000489662,;	A	ENST00000404371	Transcript	missense_variant	901/2682	563/1479	188/492	K/M	aAg/aTg		1		-1	PDIA6	HGNC	HGNC:30168	protein_coding	YES	CCDS62854.1	ENSP00000385385	Q15084		UPI000022BCCE	NM_001282704.1	deleterious(0.02)		7/15		hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF38																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	64	10793142	10793142	T	A	1	0	0	0	0	1	0	0	0	11760	1609	56	4		4	PDIA6	2	10793142	Missense_Mutation	SNP	T	C3N-00737_TP	9308396	10793142	231400387	25	21161											
RAD51AP2	0	.	GRCh38	chr2	17515694	17515694	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaattagctatctccctttCtggcaaaatactctcatatt	11	16	4	10	0	3	1	1	1	3	0	5	1	3	1	1	1	2	2	1	1	7	6	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.2722G>C	p.Glu908Gln	p.E908Q	ENST00000399080	1/3	107	92	15	173	173	0	strelka-varscan-mutect	RAD51AP2,missense_variant,p.Glu908Gln,ENST00000399080,NM_001321233.1,NM_001099218.2;	G	ENST00000399080	Transcript	missense_variant	2746/3724	2722/3480	908/1159	E/Q	Gaa/Caa		1		-1	RAD51AP2	HGNC	HGNC:34417	protein_coding	YES	CCDS42656.1	ENSP00000382030	Q09MP3		UPI0000418FD4	NM_001321233.1,NM_001099218.2	deleterious(0.01)		1/3		hmmpanther:PTHR15361,hmmpanther:PTHR15361:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	17515694	17515694	C	G	1	0	0	0	0	1	0	0	0	13148	922	32	4		4	RAD51AP2	2	17515694	Missense_Mutation	SNP	C	C3N-00737_TP	6722552	17515694	224677835	26	21162											
RAD51AP2	0	.	GRCh38	chr2	17515757	17515757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgattaacatatttattttCttccacatttacttccttac	10	21	1	9	0	1	1	0	1	1	0	3	1	3	1	2	0	3	0	2	0	5	12	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.2659G>A	p.Glu887Lys	p.E887K	ENST00000399080	1/3	82	71	11	147	147	0	strelka-varscan-mutect	RAD51AP2,missense_variant,p.Glu887Lys,ENST00000399080,NM_001321233.1,NM_001099218.2;	T	ENST00000399080	Transcript	missense_variant	2683/3724	2659/3480	887/1159	E/K	Gaa/Aaa		1		-1	RAD51AP2	HGNC	HGNC:34417	protein_coding	YES	CCDS42656.1	ENSP00000382030	Q09MP3		UPI0000418FD4	NM_001321233.1,NM_001099218.2	deleterious(0.05)		1/3		hmmpanther:PTHR15361,hmmpanther:PTHR15361:SF6																	MODERATE	1	SNV	1			1										PASS		rs1184690643	.												T	3	4	64	17515757	17515757	C	T	1	0	0	0	0	1	0	0	0	13148	922	32	3		3	RAD51AP2	2	17515757	Missense_Mutation	SNP	C	C3N-00737_TP	63	17515757	224677772	27	21163											
TTC27	0	.	GRCh38	chr2	32787038	32787038	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagtgtaactatgaacactgGcagatttgggaaaactacat	16	10	9	6	0	0	2	0	1	0	1	0	3	0	3	0	2	4	2	0	2	7	4	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.1887G>A	p.Trp629Ter	p.W629*	ENST00000317907	16/20	242	202	40	184	184	0	strelka-varscan	TTC27,stop_gained,p.Trp629Ter,ENST00000317907,NM_017735.4,NM_001193509.1;TTC27,3_prime_UTR_variant,,ENST00000428527,;TTC27,3_prime_UTR_variant,,ENST00000433416,;	A	ENST00000317907	Transcript	stop_gained	2118/2876	1887/2532	629/843	W/*	tgG/tgA		1		1	TTC27	HGNC	HGNC:25986	protein_coding	YES	CCDS33176.1	ENSP00000313953	Q6P3X3		UPI0000208226	NM_017735.4,NM_001193509.1			16/20		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR16193,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	64	32787038	32787038	G	A	1	0	0	0	0	0	1	0	0	17203	1212	42	3		3	TTC27	2	32787038	Nonsense_Mutation	SNP	G	C3N-00737_TP	15271281	32787038	209406491	28	21164											
CLHC1	0	.	GRCh38	chr2	55206344	55206344	+	Missense_Mutation	SNP	T	T	A																															ctgcataacaagctgcctttTcatattcaccaagtgagatt																								rs777439807		C3N-00737_TP	C3N-00737_NB	T	T																c.932A>T	p.Glu311Val	p.E311V	ENST00000401408	9/13	309	287	22	311	311	0	strelka-varscan	CLHC1,missense_variant,p.Glu311Val,ENST00000401408,NM_152385.2;CLHC1,missense_variant,p.Glu311Val,ENST00000407122,;CLHC1,missense_variant,p.Glu189Val,ENST00000406076,NM_001135598.1;CLHC1,non_coding_transcript_exon_variant,,ENST00000487320,;CLHC1,non_coding_transcript_exon_variant,,ENST00000466020,;CLHC1,intron_variant,,ENST00000494539,;CLHC1,3_prime_UTR_variant,,ENST00000411884,;CLHC1,intron_variant,,ENST00000428621,;	A	ENST00000401408	Transcript	missense_variant	1278/2248	932/1761	311/586	E/V	gAa/gTa	rs777439807	1		-1	CLHC1	HGNC	HGNC:26453	protein_coding	YES	CCDS33201.1	ENSP00000384869	Q8NHS4		UPI00004DEC65	NM_152385.2	deleterious(0.01)		9/13		Gene3D:1bpoA02,Pfam_domain:PF13838,PIRSF_domain:PIRSF037469,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF11,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	64	55206344	55206344	T	A	1	0	0	0	0	1	0	0	0	3293	1783	62	4		4	CLHC1	2	55206344	Missense_Mutation	SNP	T	C3N-00737_TP	22419306	55206344	186987185	29	21165	451	2									
CLHC1	0	.	GRCh38	chr2	55206345	55206345	+	Nonsense_Mutation	SNP	C	C	A																															tgcataacaagctgccttttCatattcaccaagtgagatta																								novel		C3N-00737_TP	C3N-00737_NB	C	C																c.931G>T	p.Glu311Ter	p.E311*	ENST00000401408	9/13	313	292	21	313	313	0	strelka-varscan	CLHC1,stop_gained,p.Glu311Ter,ENST00000401408,NM_152385.2;CLHC1,stop_gained,p.Glu311Ter,ENST00000407122,;CLHC1,stop_gained,p.Glu189Ter,ENST00000406076,NM_001135598.1;CLHC1,non_coding_transcript_exon_variant,,ENST00000487320,;CLHC1,non_coding_transcript_exon_variant,,ENST00000466020,;CLHC1,intron_variant,,ENST00000494539,;CLHC1,3_prime_UTR_variant,,ENST00000411884,;CLHC1,intron_variant,,ENST00000428621,;	A	ENST00000401408	Transcript	stop_gained	1277/2248	931/1761	311/586	E/*	Gaa/Taa		1		-1	CLHC1	HGNC	HGNC:26453	protein_coding	YES	CCDS33201.1	ENSP00000384869	Q8NHS4		UPI00004DEC65	NM_152385.2			9/13		Gene3D:1bpoA02,Pfam_domain:PF13838,PIRSF_domain:PIRSF037469,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF11,Superfamily_domains:SSF48371																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	64	55206345	55206345	C	A	1	0	0	0	0	0	1	0	0	3293	835	29	2		2	CLHC1	2	55206345	Nonsense_Mutation	SNP	C	C3N-00737_TP	1	55206345	186987184	30	21166	451	2									
NAT8	0	.	GRCh38	chr2	73641044	73641044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagaaggactggcccgtCttcttgaagcccatgctctg	9	9	11	12	1	3	3	0	1	3	2	3	4	3	4	2	2	2	1	2	2	3	2			C3N-00737_TP	C3N-00737_NB	C	C																c.585G>T	p.Lys195Asn	p.K195N	ENST00000272425	2/2	254	225	29	247	246	1	strelka-varscan	NAT8,missense_variant,p.Lys195Asn,ENST00000272425,NM_003960.3;ALMS1P1,upstream_gene_variant,,ENST00000450720,;	A	ENST00000272425	Transcript	missense_variant	735/947	585/684	195/227	K/N	aaG/aaT	COSM4095660	1		-1	NAT8	HGNC	HGNC:18069	protein_coding	YES	CCDS1926.1	ENSP00000272425	Q9UHE5		UPI00000707D4	NM_003960.3	deleterious(0.02)		2/2		Gene3D:3.40.630.30,PROSITE_profiles:PS51186,hmmpanther:PTHR13947,hmmpanther:PTHR13947:SF14,Superfamily_domains:SSF55729											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	64	73641044	73641044	C	A	1	0	0	0	0	1	0	0	0	10188	912	32	2		2	NAT8	2	73641044	Missense_Mutation	SNP	C	C3N-00737_TP	18434699	73641044	168552485	31	21167											
DCTN1	0	.	GRCh38	chr2	74369446	74369446	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgcagctccagttctgtctCacgtgcattctcctgcagct	5	12	8	16	2	3	0	1	0	3	0	6	0	4	0	3	0	4	6	3	0	0	2	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.1438G>C	p.Glu480Gln	p.E480Q	ENST00000361874	14/32	380	319	61	334	334	0	strelka-varscan	DCTN1,missense_variant,p.Glu480Gln,ENST00000361874,NM_004082.4;DCTN1,missense_variant,p.Glu463Gln,ENST00000628224,;DCTN1,missense_variant,p.Glu473Gln,ENST00000394003,NM_001190837.1;DCTN1,missense_variant,p.Glu443Gln,ENST00000409240,NM_001190836.1;DCTN1,missense_variant,p.Glu463Gln,ENST00000409868,;DCTN1,missense_variant,p.Glu346Gln,ENST00000633691,NM_023019.3;DCTN1,missense_variant,p.Glu346Gln,ENST00000409438,NM_001135041.2;DCTN1,missense_variant,p.Glu460Gln,ENST00000409567,NM_001135040.2;DCTN1,downstream_gene_variant,,ENST00000458655,;DCTN1,upstream_gene_variant,,ENST00000495643,;DCTN1,downstream_gene_variant,,ENST00000463583,;DCTN1,upstream_gene_variant,,ENST00000497666,;DCTN1,missense_variant,p.Glu443Gln,ENST00000434055,;DCTN1,non_coding_transcript_exon_variant,,ENST00000466110,;DCTN1,upstream_gene_variant,,ENST00000491465,;DCTN1,downstream_gene_variant,,ENST00000477966,;DCTN1,downstream_gene_variant,,ENST00000470351,;DCTN1,upstream_gene_variant,,ENST00000495895,;DCTN1,downstream_gene_variant,,ENST00000462813,;	G	ENST00000361874	Transcript	missense_variant	1756/4500	1438/3837	480/1278	E/Q	Gag/Cag		1		-1	DCTN1	HGNC	HGNC:2711	protein_coding	YES	CCDS1939.1	ENSP00000354791	Q14203		UPI0000129A25	NM_004082.4	tolerated(0.07)		14/32		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF40																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	74369446	74369446	C	G	1	0	0	0	0	1	0	0	0	4109	835	29	4		4	DCTN1	2	74369446	Missense_Mutation	SNP	C	C3N-00737_TP	728402	74369446	167824083	32	21168											
MAP3K2	0	.	GRCh38	chr2	127338963	127338963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatgaagattttgcttttCtggtttcctgcaaggataat	9	17	10	5	0	1	3	0	2	1	1	2	4	2	4	1	2	2	3	1	2	3	6	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.92G>A	p.Arg31Lys	p.R31K	ENST00000409947	3/17	213	169	44	243	243	0	strelka-varscan	MAP3K2,missense_variant,p.Arg31Lys,ENST00000409947,;MAP3K2,missense_variant,p.Arg31Lys,ENST00000344908,NM_006609.4;MAP3K2,missense_variant,p.Arg31Lys,ENST00000409179,;	T	ENST00000409947	Transcript	missense_variant	375/10992	92/1860	31/619	R/K	aGa/aAa		1		-1	MAP3K2	HGNC	HGNC:6854	protein_coding	YES	CCDS46404.1	ENSP00000387246	Q9Y2U5	A0A024RAH0	UPI0000208C78		tolerated(0.99)		3/17																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	127338963	127338963	C	T	1	0	0	0	0	1	0	0	0	9173	913	32	3		3	MAP3K2	2	127338963	Missense_Mutation	SNP	C	C3N-00737_TP	52969517	127338963	114854566	33	21169											
LRP1B	0	.	GRCh38	chr2	140541014	140541014	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaatattcggtcccctctgCaggaacaattcactctccca	10	10	6	15	1	3	0	1	0	2	0	6	1	4	1	3	2	2	2	3	2	4	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.7472G>T	p.Cys2491Phe	p.C2491F	ENST00000389484	45/91	175	141	34	206	206	0	strelka-varscan	LRP1B,missense_variant,p.Cys2491Phe,ENST00000389484,NM_018557.2;	A	ENST00000389484	Transcript	missense_variant	8444/16535	7472/13800	2491/4599	C/F	tGc/tTc		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0)		45/91		Gene3D:2.10.25.10,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	64	140541014	140541014	C	A	1	0	0	0	0	1	0	0	0	8850	710	25	2		2	LRP1B	2	140541014	Missense_Mutation	SNP	C	C3N-00737_TP	13202051	140541014	101652515	34	21170											
SCN1A	0	.	GRCh38	chr2	165992141	165992141	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataggcagatcatgctgtTgccaaaggtctcaaagttga	13	10	11	7	0	2	2	2	1	1	1	3	3	2	2	1	2	2	4	1	2	4	3	novel		C3N-00737_TP	C3N-00737_NB	T	T																c.5134A>C	p.Asn1712His	p.N1712H	ENST00000303395	28/28	354	280	74	350	350	0	strelka-varscan-mutect	SCN1A,missense_variant,p.Asn1701His,ENST00000637988,;SCN1A,missense_variant,p.Asn1712His,ENST00000303395,NM_001202435.1,NM_001165963.1;SCN1A,missense_variant,p.Asn1701His,ENST00000635750,;SCN1A,missense_variant,p.Asn1712His,ENST00000423058,;SCN1A,missense_variant,p.Asn1701His,ENST00000375405,NM_006920.4;SCN1A,missense_variant,p.Asn1684His,ENST00000409050,NM_001165964.1;SCN1A,3_prime_UTR_variant,,ENST00000635776,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000628933,;AC010127.3,intron_variant,,ENST00000597623,;AC010127.3,intron_variant,,ENST00000630226,;SCN1A,3_prime_UTR_variant,,ENST00000636194,;SCN1A,3_prime_UTR_variant,,ENST00000637038,;SCN1A,downstream_gene_variant,,ENST00000625916,;SCN1A,downstream_gene_variant,,ENST00000473295,;	G	ENST00000303395	Transcript	missense_variant	5552/8533	5134/6030	1712/2009	N/H	Aac/Cac		1		-1	SCN1A	HGNC	HGNC:10585	protein_coding	YES	CCDS54413.1	ENSP00000303540	P35498		UPI000003C71D	NM_001202435.1,NM_001165963.1	deleterious(0)		28/28		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF220,Superfamily_domains:SSF81324																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	64	165992141	165992141	T	G	1	0	0	0	0	1	0	0	0	14183	1812	63	5		5	SCN1A	2	165992141	Missense_Mutation	SNP	T	C3N-00737_TP	25451127	165992141	76201388	35	21171											
DNAH7	0	.	GRCh38	chr2	195808864	195808864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttagcagaaatctccactCagctttattaatctttggaa	13	14	6	8	0	3	1	1	0	2	1	4	2	3	2	1	1	2	3	1	1	5	5	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.9901G>C	p.Glu3301Gln	p.E3301Q	ENST00000312428	53/65	130	96	34	154	154	0	strelka-varscan-mutect	DNAH7,missense_variant,p.Glu3301Gln,ENST00000312428,NM_018897.2;	G	ENST00000312428	Transcript	missense_variant	10002/12394	9901/12075	3301/4024	E/Q	Gag/Cag		1		-1	DNAH7	HGNC	HGNC:18661	protein_coding	YES	CCDS42794.1	ENSP00000311273	Q8WXX0		UPI0000141B95	NM_018897.2	tolerated(0.2)		53/65		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	195808864	195808864	C	G	1	0	0	0	0	1	0	0	0	4421	835	29	4		4	DNAH7	2	195808864	Missense_Mutation	SNP	C	C3N-00737_TP	29816723	195808864	46384665	36	21172											
ZDBF2	0	.	GRCh38	chr2	206311580	206311580	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaaacaaactgagaggtaAtgaggtaaaatagaagttgg	19	7	12	3	0	0	3	0	2	0	2	0	4	0	3	0	3	3	4	0	3	7	4	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.7052A>G	p.Asn2351Ser	p.N2351S	ENST00000374423	5/5	30	24	6	24	24	0	strelka-varscan-mutect	ZDBF2,missense_variant,p.Asn2351Ser,ENST00000374423,NM_020923.2;ZDBF2,missense_variant,p.Asn2349Ser,ENST00000611847,NM_001285549.1;	G	ENST00000374423	Transcript	missense_variant	7438/10286	7052/7065	2351/2354	N/S	aAt/aGt		1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2	tolerated(0.15)		5/5		hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	206311580	206311580	A	G	1	0	0	0	0	1	0	0	0	18174	101	4	5		5	ZDBF2	2	206311580	Missense_Mutation	SNP	A	C3N-00737_TP	10502716	206311580	35881949	37	21173											
ADAM23	0	.	GRCh38	chr2	206609929	206609929	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcctagtgccaccaatctCataataggctccatcgctgg	9	10	9	13	1	1	0	1	0	1	0	5	0	3	0	4	3	1	2	4	3	4	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.2379C>G	p.=	p.L793L	ENST00000264377	25/26	222	166	56	237	237	0	strelka-varscan-mutect	ADAM23,synonymous_variant,p.=,ENST00000264377,NM_003812.3;ADAM23,intron_variant,,ENST00000374415,;ADAM23,intron_variant,,ENST00000444281,;AC010731.2,upstream_gene_variant,,ENST00000415275,;	G	ENST00000264377	Transcript	synonymous_variant	2707/6330	2379/2499	793/832	L	ctC/ctG		1		1	ADAM23	HGNC	HGNC:202	protein_coding	YES	CCDS2369.1	ENSP00000264377	O75077	A0A024R3W8	UPI0000044543	NM_003812.3			25/26		Low_complexity_(Seg):seg,hmmpanther:PTHR11905:SF13,hmmpanther:PTHR11905																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	64	206609929	206609929	C	G	1	0	0	0	0	0	0	0	1	289	813	29	4		4	ADAM23	2	206609929	Silent	SNP	C	C3N-00737_TP	298349	206609929	35583600	38	21174											
EPHA4	0	.	GRCh38	chr2	221430045	221430045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctgcccaaatttaggcCtgtcgctcctctccttctgc	6	13	6	16	1	3	0	0	0	3	0	6	0	4	0	4	1	2	1	4	1	3	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.2603G>A	p.Arg868Lys	p.R868K	ENST00000281821	15/18	309	234	75	265	265	0	strelka-varscan-mutect	EPHA4,missense_variant,p.Arg868Lys,ENST00000281821,NM_001304536.1,NM_001304537.1,NM_004438.4;EPHA4,missense_variant,p.Arg868Lys,ENST00000409854,;EPHA4,missense_variant,p.Arg868Lys,ENST00000409938,;EPHA4,upstream_gene_variant,,ENST00000469354,;EPHA4,upstream_gene_variant,,ENST00000472696,;EPHA4,intron_variant,,ENST00000424339,;	T	ENST00000281821	Transcript	missense_variant	2645/6346	2603/2961	868/986	R/K	aGg/aAg		1		-1	EPHA4	HGNC	HGNC:3388	protein_coding	YES	CCDS2447.1	ENSP00000281821	P54764	A0A024R452	UPI000012A077	NM_001304536.1,NM_001304537.1,NM_004438.4	deleterious(0)		15/18		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF337,hmmpanther:PTHR24416,Pfam_domain:PF07714,PIRSF_domain:PIRSF000666,Gene3D:1.10.510.10,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	221430045	221430045	C	T	1	0	0	0	0	1	0	0	0	5016	681	24	3		3	EPHA4	2	221430045	Missense_Mutation	SNP	C	C3N-00737_TP	14820116	221430045	20763484	39	21175											
COL6A3	0	.	GRCh38	chr2	237345187	237345187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatgcaacttacatcgatGgagtcgcccctgttgccctt	8	11	8	14	2	0	0	0	0	0	0	2	2	0	1	3	1	4	2	3	1	2	3	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.7119C>T	p.=	p.S2373S	ENST00000295550	33/44	486	365	121	468	467	1	strelka-varscan-mutect	COL6A3,synonymous_variant,p.=,ENST00000295550,NM_004369.3;COL6A3,synonymous_variant,p.=,ENST00000353578,NM_057167.3;COL6A3,synonymous_variant,p.=,ENST00000409809,;COL6A3,synonymous_variant,p.=,ENST00000472056,NM_057166.4;COL6A3,synonymous_variant,p.=,ENST00000347401,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;COL6A3,upstream_gene_variant,,ENST00000468792,;	A	ENST00000295550	Transcript	synonymous_variant	7572/10749	7119/9534	2373/3177	S	tcC/tcT		1		-1	COL6A3	HGNC	HGNC:2213	protein_coding	YES	CCDS33412.1	ENSP00000295550	P12111	D9ZGF2	UPI0000456F39	NM_004369.3			33/44		hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF74																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	64	237345187	237345187	G	A	1	0	0	0	0	0	0	0	1	3490	1335	47	3		3	COL6A3	2	237345187	Silent	SNP	G	C3N-00737_TP	15915142	237345187	4848342	40	21176											
TATDN2	0	.	GRCh38	chr3	10260410	10260410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccagccaggagtgaaggaCcagccaagactgcagaagga	15	2	14	10	0	0	3	0	1	0	2	0	7	0	6	4	3	3	1	4	3	3	0	rs370249364		C3N-00737_TP	C3N-00737_NB	C	C																c.688C>G	p.Pro230Ala	p.P230A	ENST00000287652	3/8	491	366	125	467	467	0	strelka-varscan-mutect	TATDN2,missense_variant,p.Pro230Ala,ENST00000287652,NM_014760.3;TATDN2,missense_variant,p.Pro230Ala,ENST00000448281,;RP11-438J1.1,missense_variant,p.Pro173Ala,ENST00000437082,;RP11-438J1.1,3_prime_UTR_variant,,ENST00000450534,;	G	ENST00000287652	Transcript	missense_variant	1739/5342	688/2286	230/761	P/A	Cca/Gca	rs370249364	1		1	TATDN2	HGNC	HGNC:28988	protein_coding	YES	CCDS33698.1	ENSP00000287652	Q93075	A0A024R2F3	UPI000013DEC1	NM_014760.3	tolerated(0.26)		3/8																			MODERATE	1	SNV	1			1										PASS		rs370249364	.												G	3	3	64	10260410	10260410	C	G	1	0	0	0	0	1	0	0	0	15991	507	18	4		4	TATDN2	3	10260410	Missense_Mutation	SNP	C	C3N-00737_TP		10260410	188035149	41	21177											
TRIM71	0	.	GRCh38	chr3	32818458	32818458	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacgcggtggtggccacTgccgacgagccgccgcccaa	6	4	14	17	7	0	0	0	0	0	0	1	3	0	0	5	3	2	0	5	3	1	0	novel		C3N-00737_TP	C3N-00737_NB	T	T																c.378T>G	p.=	p.T126T	ENST00000383763	1/4	390	349	41	320	316	4	strelka-varscan-mutect	TRIM71,synonymous_variant,p.=,ENST00000383763,NM_001039111.1;	G	ENST00000383763	Transcript	synonymous_variant	441/8685	378/2607	126/868	T	acT/acG		1		1	TRIM71	HGNC	HGNC:32669	protein_coding	YES	CCDS43060.1	ENSP00000373272	Q2Q1W2		UPI000067CB89	NM_001039111.1			1/4		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF359																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	64	32818458	32818458	T	G	1	0	0	0	0	0	0	0	1	17040	1567	55	5		5	TRIM71	3	32818458	Silent	SNP	T	C3N-00737_TP	22558048	32818458	165477101	42	21178											
LMOD3	0	.	GRCh38	chr3	69118791	69118792	+	Frame_Shift_Ins	INS	-	-	T																															gggggtggcctgtttctcggINScactggcttgagcgttttga																								novel		C3N-00737_TP	C3N-00737_NB	-	-																c.1563_1564insA	p.Pro522ThrfsTer30	p.P522Tfs*30	ENST00000420581	2/3	198	180	18	161	160	1	varindel-pindel	LMOD3,frameshift_variant,p.Pro522ThrfsTer30,ENST00000420581,;LMOD3,frameshift_variant,p.Pro522ThrfsTer30,ENST00000475434,;LMOD3,frameshift_variant,p.Pro522ThrfsTer30,ENST00000489031,NM_001304418.1,NM_198271.4;	T	ENST00000420581	Transcript	frameshift_variant	1743-1744/4086	1563-1564/1683	521-522/560	-/X	-/A		1		-1	LMOD3	HGNC	HGNC:6649	protein_coding	YES	CCDS46862.1	ENSP00000414670	Q0VAK6		UPI00001612AC				2/3		hmmpanther:PTHR10901:SF3,hmmpanther:PTHR10901																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	64	69118791	69118791	-	T	1	0	1	1	0	0	0	0	0	8785	1203	42	0		0	LMOD3	3	69118791	Frame_Shift_Ins	INS	-	C3N-00737_TP	36300333	69118791	129176768	43	21179											
OR5H2	0	.	GRCh38	chr3	98283180	98283180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccaaaaacaggatgatatCtctgtctgaatgcatgattc	13	11	9	8	0	2	3	0	3	2	0	4	4	2	4	1	2	2	1	1	2	4	2			C3N-00737_TP	C3N-00737_NB	C	C																c.293C>T	p.Ser98Phe	p.S98F	ENST00000355273	1/1	379	330	49	359	358	1	strelka-varscan-mutect	OR5H2,missense_variant,p.Ser98Phe,ENST00000355273,NM_001005482.1;RP11-325B23.2,intron_variant,,ENST00000508616,;	T	ENST00000355273	Transcript	missense_variant	293/945	293/945	98/314	S/F	tCt/tTt	COSM1049177	1		1	OR5H2	HGNC	HGNC:14752	protein_coding	YES	CCDS33801.1	ENSP00000347418	Q8NGV7		UPI0000041B67	NM_001005482.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF231,Superfamily_domains:SSF81321											1						MODERATE		SNV			1	1										PASS		.	.												T	3	4	64	98283180	98283180	C	T	1	0	0	0	0	1	0	0	0	11232	913	32	3		3	OR5H2	3	98283180	Missense_Mutation	SNP	C	C3N-00737_TP	29164389	98283180	100012379	44	21180											
GPR156	0	.	GRCh38	chr3	120167238	120167238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatctgagctgctggactCagtatcaaaatagctgtgtt	10	13	9	9	0	4	1	3	1	1	0	4	2	4	2	0	1	3	5	0	1	4	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.2239G>A	p.Glu747Lys	p.E747K	ENST00000464295	10/10	249	224	25	192	190	2	strelka-varscan-mutect	GPR156,missense_variant,p.Glu747Lys,ENST00000464295,;GPR156,missense_variant,p.Glu747Lys,ENST00000315843,NM_153002.2;GPR156,missense_variant,p.Glu743Lys,ENST00000461057,NM_001168271.1;GPR156,3_prime_UTR_variant,,ENST00000495912,;	T	ENST00000464295	Transcript	missense_variant	2685/4442	2239/2445	747/814	E/K	Gag/Aag		1		-1	GPR156	HGNC	HGNC:20844	protein_coding	YES	CCDS2997.1	ENSP00000417261	Q8NFN8		UPI000004731C		deleterious(0.04)		10/10																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	64	120167238	120167238	C	T	1	0	0	0	0	1	0	0	0	6547	835	29	3		3	GPR156	3	120167238	Missense_Mutation	SNP	C	C3N-00737_TP	21884058	120167238	78128321	45	21181											
GPR156	0	.	GRCh38	chr3	120243723	120243723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagtccaaacaataccCaagaggacaggagataatga	21	4	9	7	0	0	4	0	1	0	3	1	6	1	5	2	2	2	0	2	2	7	2	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.150G>T	p.Leu50Phe	p.L50F	ENST00000464295	3/10	305	235	70	242	241	1	strelka-varscan-mutect	GPR156,missense_variant,p.Leu50Phe,ENST00000464295,;GPR156,missense_variant,p.Leu50Phe,ENST00000315843,NM_153002.2;GPR156,missense_variant,p.Leu50Phe,ENST00000461057,NM_001168271.1;GPR156,missense_variant,p.Leu50Phe,ENST00000495912,;GPR156,non_coding_transcript_exon_variant,,ENST00000481907,;	A	ENST00000464295	Transcript	missense_variant	596/4442	150/2445	50/814	L/F	ttG/ttT		1		-1	GPR156	HGNC	HGNC:20844	protein_coding	YES	CCDS2997.1	ENSP00000417261	Q8NFN8		UPI000004731C		deleterious(0.01)		3/10		Prints_domain:PR01176,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF20,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	64	120243723	120243723	C	A	1	0	0	0	0	1	0	0	0	6547	593	21	2		2	GPR156	3	120243723	Missense_Mutation	SNP	C	C3N-00737_TP	76485	120243723	78051836	46	21182											
HSPBAP1	0	.	GRCh38	chr3	122741042	122741042	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctctggtattttgtggattCtctgcagttttcagggcaca	6	16	11	8	0	3	0	1	0	2	0	4	1	3	1	0	3	1	5	0	3	1	6	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.897G>C	p.Glu299Asp	p.E299D	ENST00000306103	7/8	413	349	64	310	310	0	strelka-varscan-mutect	HSPBAP1,missense_variant,p.Glu299Asp,ENST00000306103,NM_024610.5;HSPBAP1,non_coding_transcript_exon_variant,,ENST00000471534,;	G	ENST00000306103	Transcript	missense_variant	1041/1953	897/1467	299/488	E/D	gaG/gaC		1		-1	HSPBAP1	HGNC	HGNC:16389	protein_coding	YES	CCDS3017.1	ENSP00000302562	Q96EW2		UPI00000715E9	NM_024610.5	tolerated(0.21)		7/8		hmmpanther:PTHR12461,hmmpanther:PTHR12461:SF43,Superfamily_domains:SSF51197,Prints_domain:PR01886																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	122741042	122741042	C	G	1	0	0	0	0	1	0	0	0	7322	912	32	4		4	HSPBAP1	3	122741042	Missense_Mutation	SNP	C	C3N-00737_TP	2497319	122741042	75554517	47	21183											
IFT122	0	.	GRCh38	chr3	129481668	129481668	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttgcctggtgtatgacAtcgacaccaaggagctgctt	10	10	10	11	1	0	1	0	1	0	0	1	3	0	2	2	2	3	3	2	2	2	3	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.1780A>G	p.Ile594Val	p.I594V	ENST00000296266	15/31	453	409	44	296	296	0	varscan-mutect	IFT122,missense_variant,p.Ile393Val,ENST00000431818,NM_001280545.1;IFT122,missense_variant,p.Ile594Val,ENST00000296266,NM_052985.3;IFT122,missense_variant,p.Ile334Val,ENST00000440957,NM_001280546.1;IFT122,missense_variant,p.Ile543Val,ENST00000348417,NM_052989.2;IFT122,missense_variant,p.Ile484Val,ENST00000347300,NM_018262.3;IFT122,missense_variant,p.Ile535Val,ENST00000507564,NM_001280541.1;IFT122,missense_variant,p.Ile432Val,ENST00000349441,NM_052990.2;IFT122,missense_variant,p.Ile437Val,ENST00000504021,;IFT122,missense_variant,p.Ile58Val,ENST00000509522,;IFT122,downstream_gene_variant,,ENST00000515783,;IFT122,downstream_gene_variant,,ENST00000512157,;IFT122,3_prime_UTR_variant,,ENST00000512220,;IFT122,non_coding_transcript_exon_variant,,ENST00000506507,;IFT122,non_coding_transcript_exon_variant,,ENST00000513891,;IFT122,non_coding_transcript_exon_variant,,ENST00000448668,;IFT122,non_coding_transcript_exon_variant,,ENST00000512814,;IFT122,downstream_gene_variant,,ENST00000508654,;	G	ENST00000296266	Transcript	missense_variant	1972/4151	1780/3879	594/1292	I/V	Atc/Gtc		1		1	IFT122	HGNC	HGNC:13556	protein_coding	YES	CCDS3060.1	ENSP00000296266	Q9HBG6		UPI0000141042	NM_052985.3	tolerated(0.17)		15/31		Gene3D:2.130.10.10,hmmpanther:PTHR12764,hmmpanther:PTHR12764:SF4,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	129481668	129481668	A	G	1	0	0	0	0	1	0	0	0	7459	217	8	5		5	IFT122	3	129481668	Missense_Mutation	SNP	A	C3N-00737_TP	6740626	129481668	68813891	48	21184											
TMCC1	0	.	GRCh38	chr3	129670728	129670728	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccgaatgagtgaggcaatCtctctgggctttgagactac	9	12	11	9	1	2	3	0	3	2	1	4	5	3	3	1	2	1	2	1	2	3	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.1113G>C	p.Glu371Asp	p.E371D	ENST00000393238	4/6	266	221	45	234	234	0	strelka-varscan-mutect	TMCC1,missense_variant,p.Glu371Asp,ENST00000393238,NM_001017395.3;TMCC1,missense_variant,p.Glu47Asp,ENST00000432054,;TMCC1,missense_variant,p.Glu257Asp,ENST00000426664,NM_001128224.2;TMCC1,downstream_gene_variant,,ENST00000505616,;	G	ENST00000393238	Transcript	missense_variant	1454/5992	1113/1962	371/653	E/D	gaG/gaC		1		-1	TMCC1	HGNC	HGNC:29116	protein_coding	YES	CCDS33855.1	ENSP00000376930	O94876		UPI0000197B80	NM_001017395.3	tolerated(0.08)		4/6		Pfam_domain:PF10267,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	129670728	129670728	C	G	1	0	0	0	0	1	0	0	0	16438	912	32	4		4	TMCC1	3	129670728	Missense_Mutation	SNP	C	C3N-00737_TP	189060	129670728	68624831	49	21185											
RASA2	0	.	GRCh38	chr3	141512189	141512189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaatttattgccatatCttggaccccacaaaatgaga	17	10	5	9	0	1	1	0	1	1	1	1	3	1	2	3	1	1	0	3	1	7	5	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.160C>A	p.Leu54Ile	p.L54I	ENST00000286364	2/24	289	248	41	270	269	1	strelka-varscan-mutect	RASA2,missense_variant,p.Leu54Ile,ENST00000286364,NM_001303246.1,NM_001303245.1,NM_006506.3;RASA2,missense_variant,p.Leu54Ile,ENST00000452898,;RASA2,synonymous_variant,p.=,ENST00000515549,;	A	ENST00000286364	Transcript	missense_variant	195/5614	160/2550	54/849	L/I	Ctt/Att		1		1	RASA2	HGNC	HGNC:9872	protein_coding	YES	CCDS3117.1	ENSP00000286364	Q15283		UPI00001351F5	NM_001303246.1,NM_001303245.1,NM_006506.3	tolerated(0.41)		2/24		PROSITE_profiles:PS50004,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF21,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	64	141512189	141512189	C	A	1	0	0	0	0	1	0	0	0	13220	913	32	2		2	RASA2	3	141512189	Missense_Mutation	SNP	C	C3N-00737_TP	11841461	141512189	56783370	50	21186											
GRK7	0	.	GRCh38	chr3	141778405	141778405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtagcctggccctgcccGggctgcagggctgcgcggag	3	5	19	14	4	0	0	0	0	0	0	0	1	0	1	3	5	4	4	3	5	1	1			C3N-00737_TP	C3N-00737_NB	G	G																c.121G>T	p.Gly41Trp	p.G41W	ENST00000264952	1/4	328	303	25	170	170	0	strelka-varscan-mutect	GRK7,missense_variant,p.Gly41Trp,ENST00000264952,NM_139209.2;	T	ENST00000264952	Transcript	missense_variant	258/3239	121/1662	41/553	G/W	Ggg/Tgg	COSM3781094	1		1	GRK7	HGNC	HGNC:17031	protein_coding	YES	CCDS3120.1	ENSP00000264952	Q8WTQ7		UPI000004244D	NM_139209.2	deleterious(0.01)		1/4		hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF12,Superfamily_domains:SSF48097											1						MODERATE	1	SNV	1		1	1										PASS		rs1475883464	.												T	3	4	64	141778405	141778405	G	T	1	0	0	0	0	1	0	0	0	6677	1116	39	1		1	GRK7	3	141778405	Missense_Mutation	SNP	G	C3N-00737_TP	266216	141778405	56517154	51	21187											
ATR	0	.	GRCh38	chr3	142453145	142453145	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccttttcattgacaacttCtccagtttcattcagtggcg	9	15	6	11	1	4	1	3	1	1	0	5	1	4	1	2	1	2	1	2	1	2	6	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.7744G>C	p.Glu2582Gln	p.E2582Q	ENST00000350721	46/47	348	309	39	253	253	0	strelka-varscan-mutect	ATR,missense_variant,p.Glu2582Gln,ENST00000350721,NM_001184.3;ATR,missense_variant,p.Glu429Gln,ENST00000513291,;ATR,missense_variant,p.Glu66Gln,ENST00000504521,;ATR,missense_variant,p.Glu8Gln,ENST00000515810,;ATR,non_coding_transcript_exon_variant,,ENST00000511016,;RP11-383G6.4,downstream_gene_variant,,ENST00000481134,;	G	ENST00000350721	Transcript	missense_variant	7866/8249	7744/7935	2582/2644	E/Q	Gaa/Caa		1		-1	ATR	HGNC	HGNC:882	protein_coding	YES	CCDS3124.1	ENSP00000343741	Q13535		UPI0000031A31	NM_001184.3	deleterious(0)		46/47		Gene3D:1.10.1070.11,PROSITE_profiles:PS50290,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF69,SMART_domains:SM00146																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	142453145	142453145	C	G	1	0	0	0	0	1	0	0	0	1356	922	32	4		4	ATR	3	142453145	Missense_Mutation	SNP	C	C3N-00737_TP	674740	142453145	55842414	52	21188											
SUCNR1	0	.	GRCh38	chr3	151881319	151881319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtgaggatcgcttcacGcctggggagttggaagcagt	9	9	16	7	2	1	1	1	1	0	0	2	5	1	4	1	4	1	3	1	4	2	2	rs770883727		C3N-00737_TP	C3N-00737_NB	G	G																c.776G>T	p.Arg259Leu	p.R259L	ENST00000362032	3/3	357	284	73	265	265	0	strelka-varscan-mutect	SUCNR1,missense_variant,p.Arg259Leu,ENST00000362032,NM_033050.4;AADACL2-AS1,intron_variant,,ENST00000483843,;AADACL2-AS1,intron_variant,,ENST00000475855,;	T	ENST00000362032	Transcript	missense_variant	881/4181	776/1005	259/334	R/L	cGc/cTc	rs770883727	1		1	SUCNR1	HGNC	HGNC:4542	protein_coding	YES	CCDS3162.1	ENSP00000355156	Q9BXA5		UPI0000072507	NM_033050.4	deleterious(0)		3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF14,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		rs770883727	.												T	3	4	64	151881319	151881319	G	T	1	0	0	0	0	1	0	0	0	15750	1087	38	1		1	SUCNR1	3	151881319	Missense_Mutation	SNP	G	C3N-00737_TP	9428174	151881319	46414240	53	21189											
PLCH1	0	.	GRCh38	chr3	155482773	155482773	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggttaactacaggatCgggagccaaatgctgctttg	9	11	14	7	1	0	0	0	0	0	0	1	2	0	2	1	4	5	3	1	4	3	3	rs74737650		C3N-00737_TP	C3N-00737_NB	C	C																c.3277G>T	p.Asp1093Tyr	p.D1093Y	ENST00000340059	23/23	434	373	61	332	332	0	strelka-varscan-mutect	PLCH1,missense_variant,p.Asp1055Tyr,ENST00000460012,;PLCH1,missense_variant,p.Asp1093Tyr,ENST00000340059,NM_001130960.1;PLCH1,missense_variant,p.Asp1055Tyr,ENST00000334686,NM_014996.2;PLCH1,3_prime_UTR_variant,,ENST00000447496,NM_001130961.1;PLCH1,intron_variant,,ENST00000494598,;PLCH1-AS2,upstream_gene_variant,,ENST00000472913,;	A	ENST00000340059	Transcript	missense_variant	3277/6168	3277/5082	1093/1693	D/Y	Gat/Tat	rs74737650	1		-1	PLCH1	HGNC	HGNC:29185	protein_coding	YES	CCDS46939.1	ENSP00000345988	Q4KWH8		UPI00001D800E	NM_001130960.1	deleterious_low_confidence(0)		23/23		hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF51																	MODERATE	1	SNV	1			1										PASS		rs74737650	.												A	3	1	64	155482773	155482773	C	A	1	0	0	0	0	1	0	0	0	12131	884	31	1		1	PLCH1	3	155482773	Missense_Mutation	SNP	C	C3N-00737_TP	3601454	155482773	42812786	54	21190											
MFN1	0	.	GRCh38	chr3	179378422	179378422	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtaaacgccttagtgcttCagacccagcaagaaattatt	15	10	7	9	1	1	2	1	0	0	2	1	2	1	2	2	0	3	3	2	0	7	5	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.1411C>T	p.Gln471Ter	p.Q471*	ENST00000471841	13/18	85	73	12	95	95	0	strelka-varscan-mutect	MFN1,stop_gained,p.Gln471Ter,ENST00000471841,NM_033540.2;MFN1,stop_gained,p.Gln471Ter,ENST00000263969,;MFN1,intron_variant,,ENST00000474903,;MFN1,3_prime_UTR_variant,,ENST00000357390,;MFN1,non_coding_transcript_exon_variant,,ENST00000480636,;MFN1,non_coding_transcript_exon_variant,,ENST00000482661,;MFN1,downstream_gene_variant,,ENST00000466287,;	T	ENST00000471841	Transcript	stop_gained	1537/5224	1411/2226	471/741	Q/*	Cag/Tag		1		1	MFN1	HGNC	HGNC:18262	protein_coding	YES	CCDS3228.1	ENSP00000420617		A0A0C4DFN1	UPI0000074528	NM_033540.2			13/18		hmmpanther:PTHR10465,hmmpanther:PTHR10465:SF2																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	64	179378422	179378422	C	T	1	0	0	0	0	0	1	0	0	9475	827	29	3		3	MFN1	3	179378422	Nonsense_Mutation	SNP	C	C3N-00737_TP	23895649	179378422	18917137	55	21191											
EIF2B5	0	.	GRCh38	chr3	184142594	184142594	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaggaactgcagcagAatctgtggggtgagctaggc	12	6	17	6	0	1	3	0	1	1	2	1	5	1	5	0	5	4	3	0	5	4	1	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.1537A>T	p.Asn513Tyr	p.N513Y	ENST00000273783	10/16	628	576	52	462	462	0	strelka-varscan	EIF2B5,missense_variant,p.Asn513Tyr,ENST00000273783,NM_003907.2;EIF2B5,non_coding_transcript_exon_variant,,ENST00000492773,;EIF2B5,downstream_gene_variant,,ENST00000498831,;EIF2B5,downstream_gene_variant,,ENST00000479833,;EIF2B5,3_prime_UTR_variant,,ENST00000432982,;EIF2B5,non_coding_transcript_exon_variant,,ENST00000481054,;EIF2B5,non_coding_transcript_exon_variant,,ENST00000491144,;EIF2B5,non_coding_transcript_exon_variant,,ENST00000465218,;EIF2B5,non_coding_transcript_exon_variant,,ENST00000479250,;EIF2B5,downstream_gene_variant,,ENST00000491008,;EIF2B5,downstream_gene_variant,,ENST00000468748,;EIF2B5,downstream_gene_variant,,ENST00000493740,;EIF2B5,upstream_gene_variant,,ENST00000492226,;EIF2B5,upstream_gene_variant,,ENST00000484154,;	T	ENST00000273783	Transcript	missense_variant	1659/2655	1537/2166	513/721	N/Y	Aat/Tat		1		1	EIF2B5	HGNC	HGNC:3261	protein_coding	YES	CCDS3252.1	ENSP00000273783	Q13144		UPI000013D9CF	NM_003907.2	tolerated(0.05)		10/16		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	184142594	184142594	A	T	1	0	0	0	0	1	0	0	0	4840	246	9	4		4	EIF2B5	3	184142594	Missense_Mutation	SNP	A	C3N-00737_TP	4764172	184142594	14152965	56	21192											
EIF4G1	0	.	GRCh38	chr3	184324303	184324303	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagacaaagatgatgatGaggtttttgagaagaagcaa	19	8	12	2	0	0	8	0	4	0	5	0	9	0	8	0	1	1	2	0	1	5	2	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.2596G>T	p.Glu866Ter	p.E866*	ENST00000424196	16/32	721	568	153	574	573	1	strelka-varscan	EIF4G1,stop_gained,p.Glu860Ter,ENST00000342981,NM_182917.4;EIF4G1,stop_gained,p.Glu866Ter,ENST00000424196,;EIF4G1,stop_gained,p.Glu819Ter,ENST00000414031,NM_001291157.1;EIF4G1,stop_gained,p.Glu859Ter,ENST00000346169,NM_198241.2;EIF4G1,stop_gained,p.Glu866Ter,ENST00000352767,NM_001194947.1;EIF4G1,stop_gained,p.Glu772Ter,ENST00000392537,NM_198244.2;EIF4G1,stop_gained,p.Glu866Ter,ENST00000382330,NM_001194946.1;EIF4G1,stop_gained,p.Glu773Ter,ENST00000427845,;EIF4G1,stop_gained,p.Glu664Ter,ENST00000434061,NM_004953.4;EIF4G1,stop_gained,p.Glu695Ter,ENST00000350481,NM_198242.2;EIF4G1,stop_gained,p.Glu820Ter,ENST00000411531,;EIF4G1,stop_gained,p.Glu663Ter,ENST00000435046,;EIF4G1,stop_gained,p.Glu696Ter,ENST00000441154,;EIF4G1,stop_gained,p.Glu800Ter,ENST00000426123,;EIF4G1,stop_gained,p.Glu867Ter,ENST00000421110,;EIF4G1,stop_gained,p.Glu695Ter,ENST00000444861,;EIF4G1,downstream_gene_variant,,ENST00000450424,;EIF4G1,downstream_gene_variant,,ENST00000457456,;EIF4G1,downstream_gene_variant,,ENST00000427141,;EIF4G1,downstream_gene_variant,,ENST00000456033,;EIF4G1,upstream_gene_variant,,ENST00000448284,;EIF4G1,downstream_gene_variant,,ENST00000427607,;EIF4G1,downstream_gene_variant,,ENST00000440448,;EIF4G1,downstream_gene_variant,,ENST00000444134,;EIF4G1,downstream_gene_variant,,ENST00000428387,;SNORD66,upstream_gene_variant,,ENST00000390856,;EIF4G1,3_prime_UTR_variant,,ENST00000442406,;EIF4G1,3_prime_UTR_variant,,ENST00000413967,;EIF4G1,upstream_gene_variant,,ENST00000460829,;EIF4G1,upstream_gene_variant,,ENST00000475721,;EIF4G1,upstream_gene_variant,,ENST00000422614,;EIF4G1,upstream_gene_variant,,ENST00000464548,;EIF4G1,downstream_gene_variant,,ENST00000484862,;EIF4G1,upstream_gene_variant,,ENST00000466311,;EIF4G1,downstream_gene_variant,,ENST00000493299,;EIF4G1,upstream_gene_variant,,ENST00000482303,;	T	ENST00000424196	Transcript	stop_gained	2985/5653	2596/4821	866/1606	E/*	Gag/Tag		1		1	EIF4G1	HGNC	HGNC:3296	protein_coding	YES	CCDS54687.1	ENSP00000416255	Q04637		UPI00015E0966				16/32		Gene3D:1.25.40.180,Pfam_domain:PF02854,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10,Low_complexity_(Seg):seg,SMART_domains:SM00543,Superfamily_domains:SSF48371																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	64	184324303	184324303	G	T	1	0	0	0	0	0	1	0	0	4870	1291	45	2		2	EIF4G1	3	184324303	Nonsense_Mutation	SNP	G	C3N-00737_TP	181709	184324303	13971256	57	21193											
MB21D2	0	.	GRCh38	chr3	192798744	192798744	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaaataattggggcacAtcttgttgaccagacagtgt	12	11	12	6	0	1	3	0	2	1	1	1	4	1	4	1	3	0	2	1	3	2	4	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.1118T>G	p.Met373Arg	p.M373R	ENST00000392452	2/2	180	146	34	156	156	0	strelka-varscan	MB21D2,missense_variant,p.Met373Arg,ENST00000392452,NM_178496.3;	C	ENST00000392452	Transcript	missense_variant	1439/3368	1118/1476	373/491	M/R	aTg/aGg		1		-1	MB21D2	HGNC	HGNC:30438	protein_coding	YES	CCDS3302.2	ENSP00000376246	Q8IYB1		UPI000013FAFE	NM_178496.3	tolerated(0.07)		2/2		hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF47,Pfam_domain:PF03281,SMART_domains:SM01265																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	64	192798744	192798744	A	C	1	0	0	0	0	1	0	0	0	9270	217	8	5		5	MB21D2	3	192798744	Missense_Mutation	SNP	A	C3N-00737_TP	8474441	192798744	5496815	58	21194											
CEP135	0	.	GRCh38	chr4	56011816	56011816	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaaaagaaaatcaagAtttgttagatagatttcaga	19	10	8	4	0	2	5	2	0	0	5	2	6	2	6	1	1	0	1	1	1	7	4	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.2633A>G	p.Asp878Gly	p.D878G	ENST00000257287	21/26	71	59	12	81	81	0	strelka-varscan-mutect	CEP135,missense_variant,p.Asp878Gly,ENST00000257287,NM_025009.4;CEP135,non_coding_transcript_exon_variant,,ENST00000506202,;	G	ENST00000257287	Transcript	missense_variant	2757/5562	2633/3423	878/1140	D/G	gAt/gGt		1		1	CEP135	HGNC	HGNC:29086	protein_coding	YES	CCDS33986.1	ENSP00000257287	Q66GS9		UPI00003CE420	NM_025009.4	tolerated(0.07)		21/26		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	56011816	56011816	A	G	1	0	0	0	0	1	0	0	0	2960	333	12	5		5	CEP135	4	56011816	Missense_Mutation	SNP	A	C3N-00737_TP		56011816	134202739	59	21195											
ANK2	0	.	GRCh38	chr4	113277887	113277887	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtatggaagcctggatgtGgcaaaacttctcttgcaacg	12	10	11	8	1	1	0	0	0	1	0	2	2	1	2	1	3	4	3	1	3	6	3	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.1734G>T	p.=	p.V578V	ENST00000357077	16/46	440	383	57	480	480	0	strelka-varscan-mutect	ANK2,synonymous_variant,p.=,ENST00000357077,NM_001148.4;ANK2,synonymous_variant,p.=,ENST00000264366,;ANK2,synonymous_variant,p.=,ENST00000506722,NM_001127493.1;ANK2,synonymous_variant,p.=,ENST00000394537,NM_020977.3;ANK2,synonymous_variant,p.=,ENST00000504454,;ANK2,synonymous_variant,p.=,ENST00000503423,;ANK2,synonymous_variant,p.=,ENST00000634436,;ANK2,synonymous_variant,p.=,ENST00000503271,;	T	ENST00000357077	Transcript	synonymous_variant	1787/14196	1734/11874	578/3957	V	gtG/gtT		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4			16/46		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	64	113277887	113277887	G	T	1	0	0	0	0	0	0	0	1	721	1335	47	2		2	ANK2	4	113277887	Silent	SNP	G	C3N-00737_TP	57266071	113277887	76936668	60	21196											
FAT4	0	.	GRCh38	chr4	125491001	125491001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattgcatcttcctataaggGatggtaatactttggaaatg	13	14	9	5	0	1	0	0	0	1	0	2	2	2	2	1	3	2	2	1	3	6	7			C3N-00737_TP	C3N-00737_NB	G	G																c.14179G>A	p.Asp4727Asn	p.D4727N	ENST00000394329	17/17	419	381	38	313	313	0	strelka-varscan-mutect	FAT4,missense_variant,p.Asp4727Asn,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,missense_variant,p.Asp2968Asn,ENST00000335110,;	A	ENST00000394329	Transcript	missense_variant	14192/16123	14179/14946	4727/4981	D/N	Gat/Aat	COSM3917146,COSM3917147	1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	deleterious(0.02)		17/17		hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	64	125491001	125491001	G	A	1	0	0	0	0	1	0	0	0	5552	1174	41	3		3	FAT4	4	125491001	Missense_Mutation	SNP	G	C3N-00737_TP	12213114	125491001	64723554	61	21197											
INTU	0	.	GRCh38	chr4	127705735	127705735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtttcctcagcatcacCtccgacctttggcagactca	9	11	7	14	1	3	1	3	0	0	1	5	2	5	1	4	1	1	3	4	1	1	2	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.1711C>T	p.Leu571Phe	p.L571F	ENST00000335251	11/16	614	566	48	457	456	1	strelka-varscan-mutect	INTU,missense_variant,p.Leu571Phe,ENST00000335251,NM_015693.3;INTU,missense_variant,p.Leu85Phe,ENST00000506283,;INTU,non_coding_transcript_exon_variant,,ENST00000512995,;INTU,3_prime_UTR_variant,,ENST00000503626,;INTU,3_prime_UTR_variant,,ENST00000503952,;INTU,upstream_gene_variant,,ENST00000510766,;	T	ENST00000335251	Transcript	missense_variant	1814/13233	1711/2829	571/942	L/F	Ctc/Ttc		1		1	INTU	HGNC	HGNC:29239	protein_coding	YES	CCDS34061.1	ENSP00000334003	Q9ULD6		UPI00001C1E05	NM_015693.3	tolerated(0.23)		11/16		hmmpanther:PTHR21082:SF4,hmmpanther:PTHR21082																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	127705735	127705735	C	T	1	0	0	0	0	1	0	0	0	7689	681	24	3		3	INTU	4	127705735	Missense_Mutation	SNP	C	C3N-00737_TP	2214734	127705735	62508820	62	21198											
NEIL3	0	.	GRCh38	chr4	177310062	177310062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgctctgcggagtctgcagGgccgcgccttgcggctcgca	3	7	16	15	6	2	0	0	0	2	0	3	1	2	1	2	3	3	4	2	3	0	1	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.109G>C	p.Gly37Arg	p.G37R	ENST00000264596	1/10	143	129	14	110	110	0	strelka-varscan-mutect	NEIL3,missense_variant,p.Gly37Arg,ENST00000264596,NM_018248.2;NEIL3,missense_variant,p.Gly37Arg,ENST00000513321,;	C	ENST00000264596	Transcript	missense_variant	227/2408	109/1818	37/605	G/R	Ggc/Cgc		1		1	NEIL3	HGNC	HGNC:24573	protein_coding	YES	CCDS3828.1	ENSP00000264596	Q8TAT5		UPI000013D53D	NM_018248.2	tolerated(0.23)		1/10		PROSITE_profiles:PS51068,hmmpanther:PTHR22993,hmmpanther:PTHR22993:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	64	177310062	177310062	G	C	1	0	0	0	0	1	0	0	0	10348	1232	43	4		4	NEIL3	4	177310062	Missense_Mutation	SNP	G	C3N-00737_TP	49604327	177310062	12904493	63	21199											
TRIML2	0	.	GRCh38	chr4	188091708	188091708	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggccgtgctgcccttcgCgtctgcagagccgtggtata	4	11	13	13	4	2	1	0	0	2	1	3	1	2	1	3	2	4	3	3	2	2	3	rs182435898		C3N-00737_TP	C3N-00737_NB	C	C																c.979G>C	p.Ala327Pro	p.A327P	ENST00000512729	7/7	132	94	38	131	131	0	strelka-varscan-mutect	TRIML2,missense_variant,p.Ala327Pro,ENST00000512729,NM_173553.2;TRIML2,missense_variant,p.Ala312Pro,ENST00000326754,NM_001303419.1;TRIML2,3_prime_UTR_variant,,ENST00000503141,;TRIML2,3_prime_UTR_variant,,ENST00000503475,;	G	ENST00000512729	Transcript	missense_variant	1204/1639	979/1314	327/437	A/P	Gcg/Ccg	rs182435898,COSM316175,COSM334586	1		-1	TRIML2	HGNC	HGNC:26378	protein_coding	YES		ENSP00000422581	Q8N7C3		UPI000020B818	NM_173553.2	deleterious(0.01)		7/7		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF347,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs182435898	.												G	3	3	64	188091708	188091708	C	G	1	0	0	0	0	1	0	0	0	17048	768	27	4		4	TRIML2	4	188091708	Missense_Mutation	SNP	C	C3N-00737_TP	10781646	188091708	2122847	64	21200											
TERT	0	.	GRCh38	chr5	1294370	1294370	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgagctggtacagcggcggCccgcacacctggtaggcgca	7	4	15	15	5	0	0	0	0	0	0	0	1	0	0	3	5	3	5	3	5	2	2	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.516G>C	p.=	p.G172G	ENST00000310581	2/16	337	308	29	246	245	1	strelka-varscan-mutect	TERT,synonymous_variant,p.=,ENST00000310581,NM_198253.2;TERT,synonymous_variant,p.=,ENST00000334602,NM_001193376.1;TERT,synonymous_variant,p.=,ENST00000508104,;TERT,downstream_gene_variant,,ENST00000522877,;TERT,synonymous_variant,p.=,ENST00000460137,;	G	ENST00000310581	Transcript	synonymous_variant	574/4018	516/3399	172/1132	G	ggG/ggC		1		-1	TERT	HGNC	HGNC:11730	protein_coding	YES	CCDS3861.2	ENSP00000309572	O14746		UPI0000031309	NM_198253.2			2/16		hmmpanther:PTHR12066,hmmpanther:PTHR12066:SF0																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	64	1294370	1294370	C	G	1	0	0	0	0	0	0	0	1	16183	726	26	4		4	TERT	5	1294370	Silent	SNP	C	C3N-00737_TP		1294370	180243889	65	21201											
CTNND2	0	.	GRCh38	chr5	11110879	11110879	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatcttgggatttctttttCttcttcttcttgccccagca	4	20	6	11	0	6	1	0	1	6	0	6	2	6	2	2	1	2	1	2	1	0	8	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.2442G>A	p.=	p.K814K	ENST00000304623	14/22	106	100	6	109	109	0	varscan-mutect	CTNND2,synonymous_variant,p.=,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,synonymous_variant,p.=,ENST00000511377,NM_001288715.1;CTNND2,synonymous_variant,p.=,ENST00000503622,NM_001288716.1;CTNND2,5_prime_UTR_variant,,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,synonymous_variant,p.=,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	T	ENST00000304623	Transcript	synonymous_variant	2632/5481	2442/3678	814/1225	K	aaG/aaA		1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1			14/22		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,Low_complexity_(Seg):seg,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	64	11110879	11110879	C	T	1	0	0	0	0	0	0	0	1	3829	912	32	3		3	CTNND2	5	11110879	Silent	SNP	C	C3N-00737_TP	9816509	11110879	170427380	66	21202											
PDE8B	0	.	GRCh38	chr5	77419777	77419777	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gttattttaggaaccattatCgaacgctgcgccaggctatt	10	13	9	9	3	0	0	0	0	0	0	1	2	0	1	2	2	3	3	2	2	6	6			C3N-00737_TP	C3N-00737_NB	C	C																c.2140C>G	p.Arg714Gly	p.R714G	ENST00000264917	19/22	510	456	54	444	444	0	strelka-varscan-mutect	PDE8B,missense_variant,p.Arg714Gly,ENST00000264917,NM_003719.3;PDE8B,missense_variant,p.Arg179Gly,ENST00000505283,;PDE8B,missense_variant,p.Arg667Gly,ENST00000340978,NM_001029854.2;PDE8B,missense_variant,p.Arg617Gly,ENST00000346042,NM_001029851.2;PDE8B,missense_variant,p.Arg694Gly,ENST00000342343,NM_001029853.2;PDE8B,missense_variant,p.Arg659Gly,ENST00000333194,NM_001029852.2;	G	ENST00000264917	Transcript	missense_variant	2185/5956	2140/2658	714/885	R/G	Cga/Gga	COSM1220036	1		1	PDE8B	HGNC	HGNC:8794	protein_coding	YES	CCDS4037.1	ENSP00000264917	O95263		UPI0000001BBE	NM_003719.3	deleterious(0)		19/22		Gene3D:1.10.1300.10,Pfam_domain:PF00233,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF98,SMART_domains:SM00471,Superfamily_domains:SSF109604											1						MODERATE	1	SNV	1		1	1										PASS		rs1346301868	.												G	3	3	64	77419777	77419777	C	G	1	0	0	0	0	1	0	0	0	11742	876	31	4		4	PDE8B	5	77419777	Missense_Mutation	SNP	C	C3N-00737_TP	66308898	77419777	104118482	67	21203											
PCDHA11	0	.	GRCh38	chr5	140869794	140869794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgttcggctgttagtcCaagtcttggatgtcaacgac	8	11	11	11	3	2	0	1	0	1	0	4	2	3	1	2	2	1	4	2	2	3	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.691C>A	p.Gln231Lys	p.Q231K	ENST00000398640	1/4	167	119	48	196	196	0	strelka-varscan-mutect	PCDHA11,missense_variant,p.Gln231Lys,ENST00000398640,NM_018902.4;PCDHA11,missense_variant,p.Gln231Lys,ENST00000616325,NM_031861.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA10,downstream_gene_variant,,ENST00000562220,NM_031859.2;PCDHA11,upstream_gene_variant,,ENST00000617408,;AC005609.20,upstream_gene_variant,,ENST00000625071,;	A	ENST00000398640	Transcript	missense_variant	1549/6115	691/2850	231/949	Q/K	Caa/Aaa		1		1	PCDHA11	HGNC	HGNC:8665	protein_coding	YES	CCDS47284.1	ENSP00000381636	Q9Y5I1		UPI00001273D4	NM_018902.4	tolerated_low_confidence(0.22)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	64	140869794	140869794	C	A	1	0	0	0	0	1	0	0	0	11608	595	21	2		2	PCDHA11	5	140869794	Missense_Mutation	SNP	C	C3N-00737_TP	63450017	140869794	40668465	68	21204											
PCDHB12	0	.	GRCh38	chr5	141208978	141208978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttttgctgggaatgtCtcaggcgggctctgaaactg	6	14	13	8	1	2	1	1	1	2	0	3	2	2	2	0	3	2	3	0	3	2	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.71C>A	p.Ser24Tyr	p.S24Y	ENST00000239450	1/1	50	39	11	65	65	0	strelka-varscan-mutect	PCDHB12,missense_variant,p.Ser24Tyr,ENST00000239450,NM_018932.3;PCDHB12,missense_variant,p.Ser24Tyr,ENST00000622978,;PCDHB12,intron_variant,,ENST00000624949,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.3;CH17-140K24.2,intron_variant,,ENST00000624192,;	A	ENST00000239450	Transcript	missense_variant	260/3853	71/2388	24/795	S/Y	tCt/tAt		1		1	PCDHB12	HGNC	HGNC:8683	protein_coding	YES	CCDS4254.1	ENSP00000239450	Q9Y5F1		UPI000000DAFD	NM_018932.3	tolerated_low_confidence(0.32)		1/1		hmmpanther:PTHR24028:SF59,hmmpanther:PTHR24028,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	64	141208978	141208978	C	A	1	0	0	0	0	1	0	0	0	11624	913	32	2		2	PCDHB12	5	141208978	Missense_Mutation	SNP	C	C3N-00737_TP	339184	141208978	40329281	69	21205											
PCDHGB5	0	.	GRCh38	chr5	141400077	141400077	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatggtggacagccgccactCtccgccaccgccacgctgca	7	5	11	18	4	1	0	0	0	1	0	2	2	1	1	6	2	2	2	6	2	0	0	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.1950C>G	p.=	p.L650L	ENST00000617380	1/4	237	189	48	240	240	0	strelka-varscan-mutect	PCDHGB5,synonymous_variant,p.=,ENST00000617380,NM_018925.2;PCDHGB5,synonymous_variant,p.=,ENST00000621169,NM_032099.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGA8,downstream_gene_variant,,ENST00000610569,NM_014004.2;PCDHGA9,upstream_gene_variant,,ENST00000573521,NM_018921.2;PCDHGA9,upstream_gene_variant,,ENST00000616887,NM_032089.1;PCDHGA3,intron_variant,,ENST00000612467,;	G	ENST00000617380	Transcript	synonymous_variant	1950/4578	1950/2772	650/923	L	ctC/ctG		1		1	PCDHGB5	HGNC	HGNC:8712	protein_coding	YES	CCDS75339.1	ENSP00000478258	Q9Y5G0		UPI000007279C	NM_018925.2			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF126,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	64	141400077	141400077	C	G	1	0	0	0	0	0	0	0	1	11653	900	32	4		4	PCDHGB5	5	141400077	Silent	SNP	C	C3N-00737_TP	191099	141400077	40138182	70	21206											
SLC26A2	0	.	GRCh38	chr5	149981693	149981693	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaaccaacggagaatattgCaaaaaggaagaagaaaacct	21	5	8	7	1	0	3	0	0	0	3	0	5	0	4	2	2	4	1	2	2	10	3	rs770187272		C3N-00737_TP	C3N-00737_NB	C	C																c.2100C>A	p.Cys700Ter	p.C700*	ENST00000286298	3/3	110	104	6	149	148	1	varscan-mutect	SLC26A2,stop_gained,p.Cys700Ter,ENST00000286298,NM_000112.3;SLC26A2,intron_variant,,ENST00000503336,;SLC26A2,downstream_gene_variant,,ENST00000433184,;	A	ENST00000286298	Transcript	stop_gained	2368/8080	2100/2220	700/739	C/*	tgC/tgA	rs770187272,COSM4171377	1		1	SLC26A2	HGNC	HGNC:10994	protein_coding	YES	CCDS4300.1	ENSP00000286298	P50443		UPI000013DE3D	NM_000112.3			3/3		PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF16,Pfam_domain:PF01740,TIGRFAM_domain:TIGR00815,Superfamily_domains:SSF52091											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs770187272	.												A	4	1	64	149981693	149981693	C	A	1	0	0	0	0	0	1	0	0	14787	718	25	2		2	SLC26A2	5	149981693	Nonsense_Mutation	SNP	C	C3N-00737_TP	8581616	149981693	31556566	71	21207											
CCHCR1	0	.	GRCh38	chr6	31150159	31150159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttctcccgccagcggttCagcagggactggcacttcct	6	9	10	16	2	2	0	1	0	1	0	4	1	3	1	4	3	2	3	4	3	0	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.1269G>A	p.=	p.L423L	ENST00000396268	8/18	344	314	30	254	254	0	strelka-varscan-mutect	CCHCR1,synonymous_variant,p.=,ENST00000396268,NM_001105564.1;CCHCR1,synonymous_variant,p.=,ENST00000376266,NM_019052.3;CCHCR1,synonymous_variant,p.=,ENST00000451521,NM_001105563.1;CCHCR1,synonymous_variant,p.=,ENST00000396263,;CCHCR1,downstream_gene_variant,,ENST00000426967,;CCHCR1,downstream_gene_variant,,ENST00000448162,;CCHCR1,downstream_gene_variant,,ENST00000455279,;CCHCR1,downstream_gene_variant,,ENST00000448141,;CCHCR1,downstream_gene_variant,,ENST00000502557,;CCHCR1,downstream_gene_variant,,ENST00000507829,;CCHCR1,downstream_gene_variant,,ENST00000507751,;CCHCR1,downstream_gene_variant,,ENST00000503420,;CCHCR1,downstream_gene_variant,,ENST00000508683,;CCHCR1,downstream_gene_variant,,ENST00000503934,;CCHCR1,downstream_gene_variant,,ENST00000507226,;CCHCR1,downstream_gene_variant,,ENST00000513222,;CCHCR1,downstream_gene_variant,,ENST00000428174,;CCHCR1,intron_variant,,ENST00000480060,;CCHCR1,non_coding_transcript_exon_variant,,ENST00000509552,;CCHCR1,upstream_gene_variant,,ENST00000467553,;CCHCR1,downstream_gene_variant,,ENST00000508852,;CCHCR1,downstream_gene_variant,,ENST00000507459,;CCHCR1,downstream_gene_variant,,ENST00000512418,;CCHCR1,downstream_gene_variant,,ENST00000505392,;CCHCR1,downstream_gene_variant,,ENST00000464012,;	T	ENST00000396268	Transcript	synonymous_variant	1458/2958	1269/2616	423/871	L	ctG/ctA		1		-1	CCHCR1	HGNC	HGNC:13930	protein_coding	YES	CCDS43445.1	ENSP00000379566	Q8TD31		UPI0000E5ACDF	NM_001105564.1			8/18		Pfam_domain:PF07111,hmmpanther:PTHR23161,hmmpanther:PTHR23161:SF5																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	64	31150159	31150159	C	T	1	0	0	0	0	0	0	0	1	2575	813	29	3		3	CCHCR1	6	31150159	Silent	SNP	C	C3N-00737_TP		31150159	139655820	72	21208											
HSPA1L	0	.	GRCh38	chr6	31811399	31811399	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggacatgtcgttctccttGacctcctttatctaaaccat	9	14	5	13	1	2	1	0	1	2	0	5	2	3	2	4	1	1	1	4	1	3	5	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.574C>G	p.Gln192Glu	p.Q192E	ENST00000375654	2/2	403	361	42	402	402	0	strelka-varscan-mutect	HSPA1L,missense_variant,p.Gln192Glu,ENST00000375654,NM_005527.3;HSPA1A,upstream_gene_variant,,ENST00000375651,NM_005345.5;HSPA1A,upstream_gene_variant,,ENST00000608703,;LSM2,upstream_gene_variant,,ENST00000375661,NM_021177.4;LSM2,upstream_gene_variant,,ENST00000491421,;LSM2,upstream_gene_variant,,ENST00000477182,;LSM2,upstream_gene_variant,,ENST00000493387,;LSM2,upstream_gene_variant,,ENST00000470086,;LSM2,upstream_gene_variant,,ENST00000470083,;LSM2,upstream_gene_variant,,ENST00000475835,;	C	ENST00000375654	Transcript	missense_variant	764/2544	574/1926	192/641	Q/E	Caa/Gaa		1		-1	HSPA1L	HGNC	HGNC:5234	protein_coding	YES	CCDS34413.1	ENSP00000364805	P34931		UPI000012CC97	NM_005527.3	tolerated_low_confidence(0.54)		2/2		hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF236,Pfam_domain:PF00012,Gene3D:3.30.420.40																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	64	31811399	31811399	G	C	1	0	0	0	0	1	0	0	0	7306	1299	45	4		4	HSPA1L	6	31811399	Missense_Mutation	SNP	G	C3N-00737_TP	661240	31811399	138994580	73	21209											
TNXB	0	.	GRCh38	chr6	32058109	32058109	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgcccctcgtggaggcCgtacaggtgcatcttgtact	5	9	13	14	4	1	0	0	0	1	0	2	1	1	1	4	3	3	3	4	3	2	3	rs767643312		C3N-00737_TP	C3N-00737_NB	C	C																c.7774G>C	p.Gly2592Arg	p.G2592R	ENST00000375244	22/44	120	94	26	71	71	0	strelka-varscan-mutect	TNXB,missense_variant,p.Gly2592Arg,ENST00000375244,NM_019105.6;TNXB,missense_variant,p.Gly312Arg,ENST00000611016,;	G	ENST00000375244	Transcript	missense_variant	7976/13132	7774/12735	2592/4244	G/R	Ggc/Cgc	rs767643312,COSM4735233,COSM4735234	1		-1	TNXB	HGNC	HGNC:11976	protein_coding			ENSP00000364393	P22105	E7EPZ9	UPI0001B798E9	NM_019105.6	deleterious(0)		22/44		PROSITE_profiles:PS50853,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs767643312	.												G	3	3	64	32058109	32058109	C	G	1	0	0	0	0	1	0	0	0	16820	652	23	4		4	TNXB	6	32058109	Missense_Mutation	SNP	C	C3N-00737_TP	246710	32058109	138747870	74	21210											
TMEM217	0	.	GRCh38	chr6	37218959	37218959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagatacatgtctacggcCatgatggtgaagacccctga	12	9	11	9	1	1	5	0	4	1	2	1	6	1	5	3	2	2	0	3	2	3	2	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.72G>A	p.Met24Ile	p.M24I	ENST00000336655	2/4	201	177	24	190	190	0	strelka-varscan-mutect	TMEM217,missense_variant,p.Met24Ile,ENST00000336655,NM_145316.3;TMEM217,missense_variant,p.Met24Ile,ENST00000356757,NM_001286401.1;TMEM217,intron_variant,,ENST00000497775,;TMEM217,intron_variant,,ENST00000478262,;TMEM217,upstream_gene_variant,,ENST00000482580,;TMEM217,non_coding_transcript_exon_variant,,ENST00000357219,;	T	ENST00000336655	Transcript	missense_variant	112/1546	72/690	24/229	M/I	atG/atA		1		-1	TMEM217	HGNC	HGNC:21238	protein_coding	YES	CCDS4831.1	ENSP00000338164	Q8N7C4		UPI0000071695	NM_145316.3	tolerated(0.24)		2/4		Pfam_domain:PF15049,hmmpanther:PTHR34928,hmmpanther:PTHR34928:SF2,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	64	37218959	37218959	C	T	1	0	0	0	0	1	0	0	0	16581	594	21	3		3	TMEM217	6	37218959	Missense_Mutation	SNP	C	C3N-00737_TP	5160850	37218959	133587020	75	21211											
KCNK16	0	.	GRCh38	chr6	39322530	39322530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagcagctgcagagcccaGcactgggcatgctgtggcca	8	5	13	15	0	0	1	0	0	0	1	0	1	0	1	3	2	6	6	3	2	0	0	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.11C>A	p.Ala4Asp	p.A4D	ENST00000425054	1/5	100	76	24	99	99	0	strelka-varscan-mutect	KCNK16,missense_variant,p.Ala4Asp,ENST00000425054,NM_001135105.1;KCNK16,missense_variant,p.Ala4Asp,ENST00000373229,NM_032115.3;KCNK16,missense_variant,p.Ala4Asp,ENST00000437525,NM_001135106.1;KCNK16,missense_variant,p.Ala4Asp,ENST00000373227,NM_001135107.1;KCNK16,intron_variant,,ENST00000507712,;	T	ENST00000425054	Transcript	missense_variant	11/1272	11/969	4/322	A/D	gCt/gAt		1		-1	KCNK16	HGNC	HGNC:14464	protein_coding	YES	CCDS47421.1	ENSP00000391498	Q96T55		UPI00006838F1	NM_001135105.1	deleterious_low_confidence(0)		1/5		hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF104																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	39322530	39322530	G	T	1	0	0	0	0	1	0	0	0	7980	971	34	2		2	KCNK16	6	39322530	Missense_Mutation	SNP	G	C3N-00737_TP	2103571	39322530	131483449	76	21212											
EYS	0	.	GRCh38	chr6	64230752	64230752	+	Silent	SNP	G	G	T																															gggctgacagaagtccacatGgtatcaaccccttgtgtcac																								novel		C3N-00737_TP	C3N-00737_NB	G	G																c.6264C>A	p.=	p.T2088T	ENST00000370621	31/44	204	179	25	151	151	0	strelka-varscan	EYS,synonymous_variant,p.=,ENST00000503581,NM_001142800.1;EYS,synonymous_variant,p.=,ENST00000370621,NM_001292009.1;	T	ENST00000370621	Transcript	synonymous_variant	6791/10485	6264/9498	2088/3165	T	acC/acA		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1			31/44																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	64	64230752	64230752	G	T	1	0	0	0	0	0	0	0	1	5200	1335	47	2		2	EYS	6	64230752	Silent	SNP	G	C3N-00737_TP	24908222	64230752	106575227	77	21213	452	2									
EYS	0	.	GRCh38	chr6	64230753	64230753	+	Missense_Mutation	SNP	G	G	T																															ggctgacagaagtccacatgGtatcaaccccttgtgtcaca																								novel		C3N-00737_TP	C3N-00737_NB	G	G																c.6263C>A	p.Thr2088Asn	p.T2088N	ENST00000370621	31/44	206	182	24	150	149	1	strelka-varscan	EYS,missense_variant,p.Thr2088Asn,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Thr2088Asn,ENST00000370621,NM_001292009.1;	T	ENST00000370621	Transcript	missense_variant	6790/10485	6263/9498	2088/3165	T/N	aCc/aAc		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	tolerated(0.14)		31/44																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	64230753	64230753	G	T	1	0	0	0	0	1	0	0	0	5200	1261	44	2		2	EYS	6	64230753	Missense_Mutation	SNP	G	C3N-00737_TP	1	64230753	106575226	78	21214	452	2									
LAMA2	0	.	GRCh38	chr6	129383186	129383186	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagaggaccaacacaagagCaaagtccctgggagaattca	16	5	11	9	0	1	3	1	1	0	3	2	6	2	4	2	2	2	1	2	2	4	1	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.5024C>A	p.Ala1675Glu	p.A1675E	ENST00000421865	35/65	545	432	113	370	370	0	strelka-varscan	LAMA2,missense_variant,p.Ala1675Glu,ENST00000618192,;LAMA2,missense_variant,p.Ala1675Glu,ENST00000617695,;LAMA2,missense_variant,p.Ala1675Glu,ENST00000421865,NM_001079823.1,NM_000426.3;	A	ENST00000421865	Transcript	missense_variant	5073/9640	5024/9369	1675/3122	A/E	gCa/gAa		1		1	LAMA2	HGNC	HGNC:6482	protein_coding	YES	CCDS5138.1	ENSP00000400365	P24043		UPI00003673E0	NM_001079823.1,NM_000426.3	deleterious(0)		35/65		PD936484,Pfam_domain:PF06008																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	64	129383186	129383186	C	A	1	0	0	0	0	1	0	0	0	8510	710	25	2		2	LAMA2	6	129383186	Missense_Mutation	SNP	C	C3N-00737_TP	65152433	129383186	41422793	79	21215											
PLAGL1	0	.	GRCh38	chr6	143942192	143942192	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctttcatcagctcctgTgagtgggtcttcttggtatg	4	17	10	10	0	5	1	2	1	3	0	7	1	6	1	1	2	1	2	1	2	1	4	novel		C3N-00737_TP	C3N-00737_NB	T	T																c.624A>G	p.=	p.S208S	ENST00000360537	5/5	442	404	38	403	403	0	strelka-varscan	PLAGL1,synonymous_variant,p.=,ENST00000360537,NM_001289042.1,NM_001289044.1;PLAGL1,synonymous_variant,p.=,ENST00000354765,NM_001080954.1,NM_001289046.1;PLAGL1,synonymous_variant,p.=,ENST00000416623,NM_001289047.1;PLAGL1,synonymous_variant,p.=,ENST00000625622,NM_006718.3,NM_001080953.1,NM_001080952.1,NM_001289048.1,NM_001289049.1,NM_001289045.1;PLAGL1,synonymous_variant,p.=,ENST00000444202,NM_001289043.1,NM_001080951.1;PLAGL1,synonymous_variant,p.=,ENST00000367571,;PLAGL1,synonymous_variant,p.=,ENST00000437412,NM_001289040.1,NM_001289039.1,NM_001289037.1,NM_001080955.1,NM_001289038.1;PLAGL1,synonymous_variant,p.=,ENST00000367572,;PLAGL1,synonymous_variant,p.=,ENST00000417959,NM_002656.3,NM_001289041.1,NM_001080956.1;PLAGL1,5_prime_UTR_variant,,ENST00000392307,;ZC2HC1B,downstream_gene_variant,,ENST00000237275,NM_001013623.2;PLAGL1,downstream_gene_variant,,ENST00000629195,;PLAGL1,downstream_gene_variant,,ENST00000626294,;PLAGL1,downstream_gene_variant,,ENST00000627449,;PLAGL1,downstream_gene_variant,,ENST00000626462,;PLAGL1,downstream_gene_variant,,ENST00000628651,;PLAGL1,downstream_gene_variant,,ENST00000626373,;ZC2HC1B,downstream_gene_variant,,ENST00000539295,;RP3-468K18.7,downstream_gene_variant,,ENST00000454207,;	C	ENST00000360537	Transcript	synonymous_variant	2538/4430	624/1392	208/463	S	tcA/tcG		1		-1	PLAGL1	HGNC	HGNC:9046	protein_coding	YES	CCDS5202.1	ENSP00000353734	Q9UM63		UPI000006F274	NM_001289042.1,NM_001289044.1			5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF227,Gene3D:3.30.160.60																	LOW		SNV	5			1										PASS		.	.												C	2	2	64	143942192	143942192	T	C	1	0	0	0	0	0	0	0	1	12113	1683	59	5		5	PLAGL1	6	143942192	Silent	SNP	T	C3N-00737_TP	14559006	143942192	26863787	80	21216											
SYNE1	0	.	GRCh38	chr6	152325254	152325254	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttgtgaagctttttcctCaagggccacaattttctcat	9	15	7	10	0	2	1	2	1	1	0	4	1	3	1	2	1	1	2	2	1	3	5	rs374861508		C3N-00737_TP	C3N-00737_NB	C	C																c.15487G>C	p.Glu5163Gln	p.E5163Q	ENST00000367255	81/146	534	479	55	441	441	0	strelka-varscan	SYNE1,missense_variant,p.Glu5163Gln,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Glu5092Gln,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Glu4839Gln,ENST00000341594,;SYNE1,5_prime_UTR_variant,,ENST00000448038,;SYNE1,non_coding_transcript_exon_variant,,ENST00000490135,;	G	ENST00000367255	Transcript	missense_variant	16089/27748	15487/26394	5163/8797	E/Q	Gag/Cag	rs374861508	1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			81/146		Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	152325254	152325254	C	G	1	0	0	0	0	1	0	0	0	15837	835	29	4		4	SYNE1	6	152325254	Missense_Mutation	SNP	C	C3N-00737_TP	8383062	152325254	18480725	81	21217											
TIAM2	0	.	GRCh38	chr6	155144683	155144683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctcggtgtgctctgtttGcagaagacagcatagtgcag	8	10	12	11	1	1	2	0	0	1	2	2	2	1	2	2	1	4	5	2	1	2	2	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.1708G>T	p.Ala570Ser	p.A570S	ENST00000461783	8/29	193	169	24	149	149	0	strelka-varscan	TIAM2,missense_variant,p.Ala570Ser,ENST00000461783,;TIAM2,missense_variant,p.Ala570Ser,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Ala570Ser,ENST00000360366,;TIAM2,missense_variant,p.Ala570Ser,ENST00000529824,;TIAM2,missense_variant,p.Ala570Ser,ENST00000528535,;TIAM2,upstream_gene_variant,,ENST00000528391,;TIAM2,upstream_gene_variant,,ENST00000456877,;	T	ENST00000461783	Transcript	missense_variant	2981/6981	1708/5106	570/1701	A/S	Gca/Tca		1		1	TIAM2	HGNC	HGNC:11806	protein_coding	YES	CCDS34558.1	ENSP00000437188	Q8IVF5		UPI00004DF8BE		deleterious(0.03)		8/29		PROSITE_profiles:PS50003,hmmpanther:PTHR22826:SF118,hmmpanther:PTHR22826,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	64	155144683	155144683	G	T	1	0	0	0	0	1	0	0	0	16325	1319	46	2		2	TIAM2	6	155144683	Missense_Mutation	SNP	G	C3N-00737_TP	2819429	155144683	15661296	82	21218											
AVL9	0	.	GRCh38	chr7	32551393	32551393	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacatgcatattttgaagaGaaggatttttcccaaatttc	14	14	6	7	0	0	2	0	1	0	1	2	4	1	3	1	1	1	1	1	1	4	6	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.432G>C	p.Glu144Asp	p.E144D	ENST00000318709	5/16	158	135	23	189	189	0	strelka-varscan	AVL9,missense_variant,p.Glu144Asp,ENST00000318709,NM_015060.2;AVL9,missense_variant,p.Glu75Asp,ENST00000446718,;AVL9,missense_variant,p.Glu144Asp,ENST00000409301,;AVL9,non_coding_transcript_exon_variant,,ENST00000485228,;	C	ENST00000318709	Transcript	missense_variant	653/6982	432/1947	144/648	E/D	gaG/gaC		1		1	AVL9	HGNC	HGNC:28994	protein_coding	YES	CCDS34613.1	ENSP00000315568	Q8NBF6	A0A024RA36	UPI0000049D97	NM_015060.2	deleterious(0.01)		5/16		hmmpanther:PTHR31017,Pfam_domain:PF09794																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	64	32551393	32551393	G	C	1	0	0	0	0	1	0	0	0	1384	933	33	4		4	AVL9	7	32551393	Missense_Mutation	SNP	G	C3N-00737_TP		32551393	126794580	83	21219											
VWC2	0	.	GRCh38	chr7	49776101	49776101	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactactgcgagttccggggCaagacctatcagactttgga	11	9	11	10	2	1	2	1	0	0	2	2	4	2	3	2	3	3	2	2	3	4	4	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.666C>A	p.=	p.G222G	ENST00000340652	2/4	85	77	8	95	95	0	strelka-varscan	VWC2,synonymous_variant,p.=,ENST00000340652,NM_198570.3;	A	ENST00000340652	Transcript	synonymous_variant	1222/11299	666/978	222/325	G	ggC/ggA		1		1	VWC2	HGNC	HGNC:30200	protein_coding	YES	CCDS5508.1	ENSP00000341819	Q2TAL6		UPI00002373A5	NM_198570.3			2/4		PROSITE_profiles:PS50184,hmmpanther:PTHR11339,Pfam_domain:PF00093,Gene3D:2.10.70.10,SMART_domains:SM00214,Superfamily_domains:SSF57603																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	64	49776101	49776101	C	A	1	0	0	0	0	0	0	0	1	17802	697	25	2		2	VWC2	7	49776101	Silent	SNP	C	C3N-00737_TP	17224708	49776101	109569872	84	21220											
BAZ1B	0	.	GRCh38	chr7	73477845	73477845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attctttccgttgttcttcaGacatagaagcccacctcttt	8	16	5	12	1	4	2	1	0	3	2	5	2	5	2	3	0	1	2	3	0	2	7	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.1616C>T	p.Ser539Phe	p.S539F	ENST00000339594	7/20	262	223	39	289	289	0	strelka-varscan-mutect	BAZ1B,missense_variant,p.Ser539Phe,ENST00000339594,NM_032408.3;BAZ1B,missense_variant,p.Ser539Phe,ENST00000404251,;	A	ENST00000339594	Transcript	missense_variant	1955/6102	1616/4452	539/1483	S/F	tCt/tTt		1		-1	BAZ1B	HGNC	HGNC:961	protein_coding	YES	CCDS5549.1	ENSP00000342434	Q9UIG0		UPI0000126731	NM_032408.3	deleterious(0)		7/20		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF145																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	64	73477845	73477845	G	A	1	0	0	0	0	1	0	0	0	1475	942	33	3		3	BAZ1B	7	73477845	Missense_Mutation	SNP	G	C3N-00737_TP	23701744	73477845	85868128	85	21221											
SPDYE5	0	.	GRCh38	chr7	75501401	75501401	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggacgacgaggactcCaaacaaaacatcttccactt	15	6	9	11	2	1	0	0	0	1	0	3	6	3	3	2	3	2	0	2	3	3	2	rs781999748		C3N-00737_TP	C3N-00737_NB	C	C																c.795C>G	p.=	p.S265S	ENST00000625065	6/8	408	362	46	409	408	1	varscan-mutect	SPDYE5,synonymous_variant,p.=,ENST00000624640,NM_001099435.2;SPDYE5,synonymous_variant,p.=,ENST00000625065,;SPDYE5,synonymous_variant,p.=,ENST00000455862,;PMS2P3,downstream_gene_variant,,ENST00000529061,;	G	ENST00000625065	Transcript	synonymous_variant	1218/1700	795/1209	265/402	S	tcC/tcG	rs781999748	1		1	SPDYE5	HGNC	HGNC:35464	protein_coding	YES	CCDS78241.1	ENSP00000485398		A0A096LPK5	UPI000387D8EA				6/8		hmmpanther:PTHR31156,hmmpanther:PTHR31156:SF15,Pfam_domain:PF11357																	LOW	1	SNV	5			1										PASS		rs781999748	.												G	2	3	64	75501401	75501401	C	G	1	0	0	0	0	0	0	0	1	15381	581	21	4		4	SPDYE5	7	75501401	Silent	SNP	C	C3N-00737_TP	2023556	75501401	83844572	86	21222											
ABCB1	0	.	GRCh38	chr7	87505993	87505993	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctatggcaatgcgttgtttCtggccaccagagagctgagt	8	11	13	9	1	1	2	0	1	1	1	1	3	1	2	2	2	2	5	2	2	2	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.3540G>A	p.=	p.Q1180Q	ENST00000622132	27/28	431	332	99	322	322	0	strelka-varscan-mutect	ABCB1,synonymous_variant,p.=,ENST00000622132,;ABCB1,synonymous_variant,p.=,ENST00000265724,NM_000927.4;ABCB1,synonymous_variant,p.=,ENST00000543898,;ABCB1,non_coding_transcript_exon_variant,,ENST00000488737,;ABCB1,non_coding_transcript_exon_variant,,ENST00000475929,;ABCB1,non_coding_transcript_exon_variant,,ENST00000491360,;	T	ENST00000622132	Transcript	synonymous_variant	3865/4778	3540/3843	1180/1280	Q	caG/caA		1		-1	ABCB1	HGNC	HGNC:40	protein_coding	YES	CCDS5608.1	ENSP00000478255	P08183	A4D1D2	UPI000013D66C				27/28		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_patterns:PS00211,PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF241,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	64	87505993	87505993	C	T	1	0	0	0	0	0	0	0	1	44	912	32	3		3	ABCB1	7	87505993	Silent	SNP	C	C3N-00737_TP	12004592	87505993	71839980	87	21223											
CFAP69	0	.	GRCh38	chr7	90277096	90277096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggctttaccaaggatttGatactgtttgccacctttaa	9	16	8	8	0	0	1	0	1	0	0	0	2	0	2	3	2	3	2	3	2	4	7			C3N-00737_TP	C3N-00737_NB	G	G																c.1008G>A	p.=	p.L336L	ENST00000389297	10/23	93	82	11	157	157	0	strelka-varscan-mutect	CFAP69,synonymous_variant,p.=,ENST00000389297,NM_001039706.2;CFAP69,synonymous_variant,p.=,ENST00000497910,NM_001160138.1;CFAP69,intron_variant,,ENST00000457170,;CFAP69,upstream_gene_variant,,ENST00000449577,;CFAP69,downstream_gene_variant,,ENST00000418199,;CFAP69,downstream_gene_variant,,ENST00000463311,;CFAP69,3_prime_UTR_variant,,ENST00000451029,;CFAP69,3_prime_UTR_variant,,ENST00000427396,;CFAP69,non_coding_transcript_exon_variant,,ENST00000475031,;CFAP69,upstream_gene_variant,,ENST00000491886,;	A	ENST00000389297	Transcript	synonymous_variant	1259/3902	1008/2826	336/941	L	ttG/ttA	COSM4825015,COSM4825016	1		1	CFAP69	HGNC	HGNC:26107	protein_coding	YES	CCDS43613.2	ENSP00000373948	A5D8W1		UPI000066DA29	NM_001039706.2			10/23		hmmpanther:PTHR14716:SF0,hmmpanther:PTHR14716,Superfamily_domains:SSF48371											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	64	90277096	90277096	G	A	1	0	0	0	0	0	0	0	1	3030	1281	45	3		3	CFAP69	7	90277096	Silent	SNP	G	C3N-00737_TP	2771103	90277096	69068877	88	21224											
ANKIB1	0	.	GRCh38	chr7	92343054	92343054	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaattacttgaagcttGgatgtccaacccggagaact	13	9	11	8	1	0	3	0	1	0	2	1	6	1	4	2	3	4	1	2	3	5	3	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.818G>C	p.Trp273Ser	p.W273S	ENST00000265742	6/20	445	393	52	326	326	0	strelka-varscan-mutect	ANKIB1,missense_variant,p.Trp273Ser,ENST00000265742,NM_019004.1;ANKIB1,3_prime_UTR_variant,,ENST00000439883,;ANKIB1,upstream_gene_variant,,ENST00000413588,;	C	ENST00000265742	Transcript	missense_variant	1194/6081	818/3270	273/1089	W/S	tGg/tCg		1		1	ANKIB1	HGNC	HGNC:22215	protein_coding	YES	CCDS47639.1	ENSP00000265742	Q9P2G1		UPI00001C1E7C	NM_019004.1	deleterious(0)		6/20		hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF95																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	64	92343054	92343054	G	C	1	0	0	0	0	1	0	0	0	731	1357	47	4		4	ANKIB1	7	92343054	Missense_Mutation	SNP	G	C3N-00737_TP	2065958	92343054	67002919	89	21225											
CADPS2	0	.	GRCh38	chr7	122360822	122360822	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttgcagctgctttcaccTtaagtgtgaaagaaagagat	13	13	9	6	0	1	3	1	1	0	2	1	4	1	3	1	0	3	3	1	0	3	4	novel		C3N-00737_TP	C3N-00737_NB	T	T																c.3472-2A>C		p.X1158_splice	ENST00000449022		107	89	18	162	162	0	strelka-varscan-mutect	CADPS2,splice_acceptor_variant,,ENST00000615869,;CADPS2,splice_acceptor_variant,,ENST00000313070,NM_001167940.1;CADPS2,splice_acceptor_variant,,ENST00000334010,;CADPS2,splice_acceptor_variant,,ENST00000412584,NM_001009571.3;CADPS2,splice_acceptor_variant,,ENST00000449022,NM_017954.10;CADPS2,splice_acceptor_variant,,ENST00000397721,;CADPS2,splice_acceptor_variant,,ENST00000462699,;RP5-1101C3.1,intron_variant,,ENST00000602012,;RP5-1101C3.1,intron_variant,,ENST00000591140,;RP5-1101C3.1,intron_variant,,ENST00000625850,;RP5-1101C3.1,intron_variant,,ENST00000628132,;RP5-1101C3.1,intron_variant,,ENST00000602199,;RP5-1101C3.1,intron_variant,,ENST00000628268,;RP5-1101C3.1,intron_variant,,ENST00000593910,;RP5-1101C3.1,intron_variant,,ENST00000626052,;RP5-1101C3.1,intron_variant,,ENST00000626740,;RP5-1101C3.1,intron_variant,,ENST00000630897,;RP5-1101C3.1,intron_variant,,ENST00000626092,;RP5-1101C3.1,intron_variant,,ENST00000482375,;RP5-1101C3.1,intron_variant,,ENST00000630777,;RP5-1101C3.1,intron_variant,,ENST00000631248,;RP5-1101C3.1,intron_variant,,ENST00000627005,;	G	ENST00000449022	Transcript	splice_acceptor_variant	-/4073	3472/3891	1158/1296				1		-1	CADPS2	HGNC	HGNC:16018	protein_coding	YES	CCDS55158.1	ENSP00000398481	Q86UW7		UPI0000668808	NM_017954.10				26/29																		HIGH	1	SNV	5			1										PASS		.	.												G	5	3	64	122360822	122360822	T	G	1	0	0	0	0	0	0	1	0	2261	1623	56	5		5	CADPS2	7	122360822	Splice_Site	SNP	T	C3N-00737_TP	30017768	122360822	36985151	90	21226											
SLC13A1	0	.	GRCh38	chr7	123115545	123115545	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtctcattactcatagcAggagcccacgaagggtaagt	12	9	11	9	1	2	0	2	0	1	0	3	2	2	1	1	3	3	2	1	3	4	3	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.1761T>C	p.=	p.P587P	ENST00000194130	15/15	173	157	16	167	166	1	strelka-mutect	SLC13A1,synonymous_variant,p.=,ENST00000194130,NM_022444.3;SLC13A1,3_prime_UTR_variant,,ENST00000539873,;SLC13A1,3_prime_UTR_variant,,ENST00000427975,;SLC13A1,3_prime_UTR_variant,,ENST00000439260,;	G	ENST00000194130	Transcript	synonymous_variant	1801/3815	1761/1788	587/595	P	ccT/ccC		1		-1	SLC13A1	HGNC	HGNC:10916	protein_coding	YES	CCDS5786.1	ENSP00000194130	Q9BZW2	A4D0X1	UPI0000049F9D	NM_022444.3			15/15		hmmpanther:PTHR10283:SF65,hmmpanther:PTHR10283																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	64	123115545	123115545	A	G	1	0	0	0	0	0	0	0	1	14656	175	7	5		5	SLC13A1	7	123115545	Silent	SNP	A	C3N-00737_TP	754723	123115545	36230428	91	21227											
CPA4	0	.	GRCh38	chr7	130299310	130299310	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccttcaatcggcctgTggatgtcctggtcccatctg	4	13	9	15	1	2	0	1	0	1	0	7	1	6	1	5	3	0	0	5	3	1	1	novel		C3N-00737_TP	C3N-00737_NB	T	T																c.191T>A	p.Val64Glu	p.V64E	ENST00000222482	3/11	242	229	13	218	218	0	strelka-varscan-mutect	CPA4,missense_variant,p.Val64Glu,ENST00000222482,NM_016352.3;CPA4,missense_variant,p.Val64Glu,ENST00000445470,NM_001163446.1;CPA4,missense_variant,p.Val64Glu,ENST00000473956,;CPA4,missense_variant,p.Val64Glu,ENST00000492072,;CPA4,5_prime_UTR_variant,,ENST00000486598,;CPA4,intron_variant,,ENST00000493259,;CPA4,non_coding_transcript_exon_variant,,ENST00000470542,;CPA4,non_coding_transcript_exon_variant,,ENST00000474254,;CPA4,non_coding_transcript_exon_variant,,ENST00000490117,;CPA4,non_coding_transcript_exon_variant,,ENST00000497388,;	A	ENST00000222482	Transcript	missense_variant	219/2797	191/1266	64/421	V/E	gTg/gAg		1		1	CPA4	HGNC	HGNC:15740	protein_coding	YES	CCDS5818.1	ENSP00000222482	Q9UI42	A4D1M3	UPI0000048F00	NM_016352.3	deleterious(0)		3/11		Gene3D:3.30.70.340,Pfam_domain:PF02244,hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF50,Superfamily_domains:SSF54897																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	64	130299310	130299310	T	A	1	0	0	0	0	1	0	0	0	3586	1696	59	4		4	CPA4	7	130299310	Missense_Mutation	SNP	T	C3N-00737_TP	7183765	130299310	29046663	92	21228											
ELP3	0	.	GRCh38	chr8	28132290	28132290	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccttaggggccacactgtGaaggcagtgtgtgagtcatt	8	12	13	8	0	1	2	1	2	0	0	2	2	2	2	2	3	0	1	2	3	2	3	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.792G>A	p.=	p.V264V	ENST00000256398	9/15	218	201	17	176	175	1	strelka-varscan-mutect	ELP3,synonymous_variant,p.=,ENST00000256398,NM_018091.5;ELP3,synonymous_variant,p.=,ENST00000521015,NM_001284222.1;ELP3,synonymous_variant,p.=,ENST00000380353,NM_001284226.1;ELP3,synonymous_variant,p.=,ENST00000537665,NM_001284225.1,NM_001284224.1;ELP3,synonymous_variant,p.=,ENST00000524103,NM_001284220.1;ELP3,non_coding_transcript_exon_variant,,ENST00000520110,;ELP3,3_prime_UTR_variant,,ENST00000518112,;ELP3,3_prime_UTR_variant,,ENST00000519261,;ELP3,3_prime_UTR_variant,,ENST00000523687,;ELP3,non_coding_transcript_exon_variant,,ENST00000520011,;	A	ENST00000256398	Transcript	synonymous_variant	1169/3452	792/1644	264/547	V	gtG/gtA		1		1	ELP3	HGNC	HGNC:20696	protein_coding	YES	CCDS6065.1	ENSP00000256398	Q9H9T3		UPI000006F0B5	NM_018091.5			9/15		hmmpanther:PTHR11135,PIRSF_domain:PIRSF005669,TIGRFAM_domain:TIGR01211,Gene3D:2qgqB01,Pfam_domain:PF04055,SMART_domains:SM00729,Superfamily_domains:SSF102114																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	64	28132290	28132290	G	A	1	0	0	0	0	0	0	0	1	4915	1277	45	3		3	ELP3	8	28132290	Silent	SNP	G	C3N-00737_TP		28132290	117006346	93	21229											
DKK4	0	.	GRCh38	chr8	42374854	42374854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttctgcatgtgtgccatCttgctcatcaagctgccttt	5	16	7	13	0	4	0	2	0	2	0	5	0	5	0	3	0	5	3	3	0	1	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.322G>A	p.Asp108Asn	p.D108N	ENST00000220812	3/4	424	385	39	292	292	0	strelka-varscan-mutect	DKK4,missense_variant,p.Asp108Asn,ENST00000220812,NM_014420.2;POLB,downstream_gene_variant,,ENST00000265421,NM_002690.2;POLB,downstream_gene_variant,,ENST00000521290,;POLB,downstream_gene_variant,,ENST00000521492,;POLB,downstream_gene_variant,,ENST00000518579,;POLB,downstream_gene_variant,,ENST00000517393,;POLB,downstream_gene_variant,,ENST00000522610,;POLB,downstream_gene_variant,,ENST00000524208,;POLB,downstream_gene_variant,,ENST00000521418,;	T	ENST00000220812	Transcript	missense_variant	509/894	322/675	108/224	D/N	Gat/Aat		1		-1	DKK4	HGNC	HGNC:2894	protein_coding	YES	CCDS6130.1	ENSP00000220812	Q9UBT3		UPI0000051057	NM_014420.2	tolerated(0.18)		3/4		hmmpanther:PTHR12113,hmmpanther:PTHR12113:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	42374854	42374854	C	T	1	0	0	0	0	1	0	0	0	4353	913	32	3		3	DKK4	8	42374854	Missense_Mutation	SNP	C	C3N-00737_TP	14242564	42374854	102763782	94	21230											
MCM4	0	.	GRCh38	chr8	47974836	47974836	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcagaagcccatgctaaaGtaagattgtctaacaaagtt	16	10	8	7	0	1	2	0	0	1	2	1	2	1	2	1	0	4	4	1	0	7	6	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.2239G>C	p.Val747Leu	p.V747L	ENST00000262105	14/16	341	289	52	275	275	0	strelka-varscan-mutect	MCM4,missense_variant,p.Val747Leu,ENST00000262105,NM_005914.3;MCM4,missense_variant,p.Val747Leu,ENST00000523944,NM_182746.2;MCM4,downstream_gene_variant,,ENST00000520637,;RNU6-519P,upstream_gene_variant,,ENST00000410590,;MCM4,downstream_gene_variant,,ENST00000518680,;MCM4,3_prime_UTR_variant,,ENST00000518382,;MCM4,non_coding_transcript_exon_variant,,ENST00000521261,;MCM4,upstream_gene_variant,,ENST00000521151,;MCM4,downstream_gene_variant,,ENST00000517709,;MCM4,downstream_gene_variant,,ENST00000519470,;MCM4,downstream_gene_variant,,ENST00000523853,;	C	ENST00000262105	Transcript	missense_variant	2448/4183	2239/2592	747/863	V/L	Gta/Cta		1		1	MCM4	HGNC	HGNC:6947	protein_coding	YES	CCDS6143.1	ENSP00000262105	P33991		UPI000013D25C	NM_005914.3	tolerated(0.08)		14/16		Gene3D:3.40.50.300,Pfam_domain:PF00493,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF66,SMART_domains:SM00350,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	64	47974836	47974836	G	C	1	0	0	0	0	1	0	0	0	9321	1029	36	4		4	MCM4	8	47974836	Missense_Mutation	SNP	G	C3N-00737_TP	5599982	47974836	97163800	95	21231											
BHLHE22	0	.	GRCh38	chr8	64581181	64581181	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttgcctcaagtacggcGaaagcgcgagccggggctcg	7	6	14	14	6	1	0	1	0	0	0	2	2	1	0	3	3	4	2	3	3	3	2	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.391G>T	p.Glu131Ter	p.E131*	ENST00000321870	1/1	43	38	5	50	50	0	strelka-mutect	BHLHE22,stop_gained,p.Glu131Ter,ENST00000321870,NM_152414.4;RP11-21C4.1,intron_variant,,ENST00000517909,;RP11-21C4.1,upstream_gene_variant,,ENST00000520834,;	T	ENST00000321870	Transcript	stop_gained	815/3262	391/1146	131/381	E/*	Gaa/Taa		1		1	BHLHE22	HGNC	HGNC:11963	protein_coding	YES	CCDS6179.1	ENSP00000318799	Q8NFJ8		UPI0000070A3C	NM_152414.4			1/1		hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF52																	HIGH		SNV				1										PASS		.	.												T	4	4	64	64581181	64581181	G	T	1	0	0	0	0	0	1	0	0	1569	1059	37	1		1	BHLHE22	8	64581181	Nonsense_Mutation	SNP	G	C3N-00737_TP	16606345	64581181	80557455	96	21232											
TMEM67	0	.	GRCh38	chr8	93759972	93759972	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgtactttagaaggaatgTacaacataattgaagaaatt	18	12	7	4	0	0	3	0	1	0	2	0	4	0	4	0	1	3	2	0	1	9	7	novel		C3N-00737_TP	C3N-00737_NB	T	T																c.142T>C	p.Tyr48His	p.Y48H	ENST00000409623	4/29	116	87	29	85	85	0	strelka-varscan-mutect	TMEM67,missense_variant,p.Tyr48His,ENST00000409623,NM_001142301.1;TMEM67,intron_variant,,ENST00000453321,NM_153704.5;TMEM67,intron_variant,,ENST00000452276,;TMEM67,intron_variant,,ENST00000518319,;TMEM67,intron_variant,,ENST00000453906,;TMEM67,intron_variant,,ENST00000521517,;TMEM67,intron_variant,,ENST00000498673,;TMEM67,intron_variant,,ENST00000323130,;TMEM67,intron_variant,,ENST00000474944,;TMEM67,intron_variant,,ENST00000455946,;TMEM67,intron_variant,,ENST00000521222,;TMEM67,intron_variant,,ENST00000521065,;TMEM67,downstream_gene_variant,,ENST00000481620,;TMEM67,downstream_gene_variant,,ENST00000475305,;	C	ENST00000409623	Transcript	missense_variant	344/3255	142/2745	48/914	Y/H	Tac/Cac		1		1	TMEM67	HGNC	HGNC:28396	protein_coding		CCDS47893.1	ENSP00000386966	Q5HYA8		UPI0000EE3237	NM_001142301.1	tolerated_low_confidence(0.52)		4/29																			MODERATE		SNV	2			1										PASS		.	.												C	3	2	64	93759972	93759972	T	C	1	0	0	0	0	1	0	0	0	16671	1638	57	5		5	TMEM67	8	93759972	Missense_Mutation	SNP	T	C3N-00737_TP	29178791	93759972	51378664	97	21233											
DPY19L4	0	.	GRCh38	chr8	94781094	94781094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcattttagttttttcccaGattaatgacagaattaatgg	12	17	7	5	0	0	3	0	1	0	2	1	3	1	3	1	1	1	2	1	1	4	7	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.1643G>A	p.Arg548Lys	p.R548K	ENST00000414645	16/19	122	112	10	135	135	0	varscan-mutect	DPY19L4,missense_variant,p.Arg548Lys,ENST00000414645,NM_181787.2;DPY19L4,intron_variant,,ENST00000522669,;	A	ENST00000414645	Transcript	missense_variant	1742/6197	1643/2172	548/723	R/K	aGa/aAa		1		1	DPY19L4	HGNC	HGNC:27829	protein_coding	YES	CCDS34924.1	ENSP00000389630	Q7Z388	A0A024R9F2	UPI00001A9D7A	NM_181787.2	tolerated(0.67)		16/19		hmmpanther:PTHR31488:SF2,hmmpanther:PTHR31488,Pfam_domain:PF10034																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	64	94781094	94781094	G	A	1	0	0	0	0	1	0	0	0	4558	942	33	3		3	DPY19L4	8	94781094	Missense_Mutation	SNP	G	C3N-00737_TP	1021122	94781094	50357542	98	21234											
SPAG1	0	.	GRCh38	chr8	100240693	100240693	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctcctcattcagtctctGaaaaataatcttattgaaaa	14	15	3	9	0	5	2	2	2	3	0	7	2	5	2	1	0	0	0	1	0	6	5	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.2571G>C	p.=	p.L857L	ENST00000388798	18/19	179	157	22	201	201	0	strelka-varscan-mutect	SPAG1,synonymous_variant,p.=,ENST00000388798,NM_003114.4;SPAG1,synonymous_variant,p.=,ENST00000251809,NM_172218.2;SPAG1,non_coding_transcript_exon_variant,,ENST00000519409,;SPAG1,downstream_gene_variant,,ENST00000519424,;	C	ENST00000388798	Transcript	synonymous_variant	2762/3852	2571/2781	857/926	L	ctG/ctC		1		1	SPAG1	HGNC	HGNC:11212	protein_coding	YES	CCDS34930.1	ENSP00000373450	Q07617		UPI000016783D	NM_003114.4			18/19		Pfam_domain:PF13877																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	64	100240693	100240693	G	C	1	0	0	0	0	0	0	0	1	15306	1277	45	4		4	SPAG1	8	100240693	Silent	SNP	G	C3N-00737_TP	5459599	100240693	44897943	99	21235											
FRMPD1	0	.	GRCh38	chr9	37745466	37745466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgtgtcaaataatgtttCacagactcttgatattagct	12	16	7	6	0	3	3	2	2	1	1	3	3	3	3	0	0	1	2	0	0	4	5	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.3434C>T	p.Ser1145Leu	p.S1145L	ENST00000539465	16/16	300	263	37	321	321	0	strelka-varscan-mutect	FRMPD1,missense_variant,p.Ser1145Leu,ENST00000539465,;FRMPD1,missense_variant,p.Ser1145Leu,ENST00000377765,NM_014907.2;RP11-613M10.9,intron_variant,,ENST00000540557,;	T	ENST00000539465	Transcript	missense_variant	4027/5465	3434/4737	1145/1578	S/L	tCa/tTa		1		1	FRMPD1	HGNC	HGNC:29159	protein_coding	YES	CCDS6612.1	ENSP00000444411	Q5SYB0		UPI000013D2CC		tolerated_low_confidence(0.33)		16/16																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	37745466	37745466	C	T	1	0	0	0	0	1	0	0	0	5927	838	29	3		3	FRMPD1	9	37745466	Missense_Mutation	SNP	C	C3N-00737_TP		37745466	100649251	100	21236											
TMEM245	0	.	GRCh38	chr9	109087332	109087332	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgaatgacaagctttttGagtatccagactaaaaaaag	18	10	8	5	0	0	4	0	3	0	1	1	4	1	4	1	0	1	2	1	0	8	4	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.1161C>T	p.=	p.L387L	ENST00000374586	6/18	127	92	35	110	109	1	varscan-mutect	TMEM245,synonymous_variant,p.=,ENST00000374586,NM_032012.3;TMEM245,upstream_gene_variant,,ENST00000413712,;TMEM245,synonymous_variant,p.=,ENST00000491854,;	A	ENST00000374586	Transcript	synonymous_variant	1193/7980	1161/2640	387/879	L	ctC/ctT		1		-1	TMEM245	HGNC	HGNC:1363	protein_coding	YES	CCDS43858.1	ENSP00000363714	Q9H330		UPI000013C833	NM_032012.3			6/18		hmmpanther:PTHR21716:SF4,hmmpanther:PTHR21716																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	64	109087332	109087332	G	A	1	0	0	0	0	0	0	0	1	16605	1277	45	3		3	TMEM245	9	109087332	Silent	SNP	G	C3N-00737_TP	71341866	109087332	29307385	101	21237											
SFMBT2	0	.	GRCh38	chr10	7172576	7172576	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatttccgtcgcttcctccgCctggcgggtttggggtgtcc	1	13	14	13	4	0	0	0	0	0	0	5	1	4	0	5	4	0	2	5	4	0	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.2070G>A	p.=	p.R690R	ENST00000397167	18/21	255	193	62	237	237	0	strelka-varscan-mutect	SFMBT2,synonymous_variant,p.=,ENST00000397167,NM_001029880.2;SFMBT2,synonymous_variant,p.=,ENST00000361972,NM_001018039.1;	T	ENST00000397167	Transcript	synonymous_variant	2263/8024	2070/2685	690/894	R	agG/agA		1		-1	SFMBT2	HGNC	HGNC:20256	protein_coding	YES	CCDS31138.1	ENSP00000380353	Q5VUG0		UPI00001C1EDF	NM_001029880.2			18/21		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	64	7172576	7172576	C	T	1	0	0	0	0	0	0	0	1	14436	738	26	3		3	SFMBT2	10	7172576	Silent	SNP	C	C3N-00737_TP		7172576	126624846	102	21238											
ZNF33A	0	.	GRCh38	chr10	38054644	38054644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgaatttaatgcctgtGggaaattgttactcaatatt	12	16	8	5	0	1	2	1	2	0	0	1	3	1	3	1	1	2	1	1	1	6	6	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.574G>A	p.Gly192Arg	p.G192R	ENST00000307441	6/6	149	136	13	219	218	1	varscan-mutect	ZNF33A,missense_variant,p.Gly192Arg,ENST00000307441,NM_001324175.1,NM_001324177.1,NM_001324178.1,NM_001278173.1;ZNF33A,missense_variant,p.Gly62Arg,ENST00000374618,NM_001324175.1,NM_001324177.1,NM_001324176.1,NM_001278176.1,NM_001278179.1,NM_001278178.1,NM_001278171.1,NM_001278174.1,NM_001278175.1;ZNF33A,missense_variant,p.Gly173Arg,ENST00000458705,NM_006974.2;ZNF33A,missense_variant,p.Gly174Arg,ENST00000432900,NM_001278177.1,NM_006954.1;ZNF33A,missense_variant,p.Gly180Arg,ENST00000628825,NM_001278170.1;ZNF33A,intron_variant,,ENST00000469037,;ZNF33A,downstream_gene_variant,,ENST00000478556,;	A	ENST00000307441	Transcript	missense_variant	777/6196	574/2490	192/829	G/R	Ggg/Agg		1		1	ZNF33A	HGNC	HGNC:13096	protein_coding	YES	CCDS73088.1	ENSP00000304268		A0A0A0MR11	UPI00032969BB	NM_001324175.1,NM_001324177.1,NM_001324178.1,NM_001278173.1	tolerated(0.1)		6/6																			MODERATE	1	SNV	4			1										PASS		.	.												A	3	1	64	38054644	38054644	G	A	1	0	0	0	0	1	0	0	0	18426	1348	47	3		3	ZNF33A	10	38054644	Missense_Mutation	SNP	G	C3N-00737_TP	30882068	38054644	95742778	103	21239											
PCDH15	0	.	GRCh38	chr10	53809166	53809166	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcagagggtgtctcTgactcagattcctcttctgt	5	15	8	13	0	5	3	2	1	3	2	9	3	8	3	3	1	0	0	3	1	0	2	novel		C3N-00737_TP	C3N-00737_NB	T	T																c.4899A>G	p.=	p.S1633S	ENST00000613657	37/37	490	373	117	460	460	0	strelka-varscan-mutect	PCDH15,synonymous_variant,p.=,ENST00000613657,NM_001142769.1;PCDH15,synonymous_variant,p.=,ENST00000395445,;PCDH15,synonymous_variant,p.=,ENST00000612394,;PCDH15,synonymous_variant,p.=,ENST00000395446,;PCDH15,synonymous_variant,p.=,ENST00000395440,;PCDH15,synonymous_variant,p.=,ENST00000395442,;PCDH15,3_prime_UTR_variant,,ENST00000617271,NM_001142770.1;PCDH15,3_prime_UTR_variant,,ENST00000395438,;PCDH15,3_prime_UTR_variant,,ENST00000409834,;PCDH15,3_prime_UTR_variant,,ENST00000615043,;PCDH15,intron_variant,,ENST00000614895,;PCDH15,intron_variant,,ENST00000373965,NM_001142772.1;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000616114,;PCDH15,intron_variant,,ENST00000621708,NM_001142771.1;PCDH15,intron_variant,,ENST00000495484,;PCDH15,intron_variant,,ENST00000618301,;PCDH15,3_prime_UTR_variant,,ENST00000414367,;PCDH15,intron_variant,,ENST00000476074,;	C	ENST00000613657	Transcript	synonymous_variant	5294/6329	4899/5373	1633/1790	S	tcA/tcG		1		-1	PCDH15	HGNC	HGNC:14674	protein_coding		CCDS73138.1	ENSP00000482794		A0A087WZN9	UPI0001884905	NM_001142769.1			37/37		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,Low_complexity_(Seg):seg																	LOW		SNV	5			1										PASS		.	.												C	2	2	64	53809166	53809166	T	C	1	0	0	0	0	0	0	0	1	11598	1567	55	5		5	PCDH15	10	53809166	Silent	SNP	T	C3N-00737_TP	15754522	53809166	79988256	104	21240											
IFIT3	0	.	GRCh38	chr10	89339175	89339175	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaacccagaattctccTctggactggcaattgcgatg	11	9	8	13	1	2	1	0	0	2	1	3	3	2	2	3	2	3	1	3	2	4	2	novel		C3N-00737_TP	C3N-00737_NB	T	T																c.520T>A	p.Ser174Thr	p.S174T	ENST00000371818	2/2	126	108	18	142	142	0	strelka-varscan-mutect	IFIT3,missense_variant,p.Ser174Thr,ENST00000371818,NM_001549.5;IFIT3,missense_variant,p.Ser174Thr,ENST00000371811,NM_001031683.3;LIPA,intron_variant,,ENST00000371837,;LIPA,intron_variant,,ENST00000282673,;LIPA,intron_variant,,ENST00000487618,;LIPA,intron_variant,,ENST00000463623,;LIPA,intron_variant,,ENST00000489359,;	A	ENST00000371818	Transcript	missense_variant	700/2496	520/1473	174/490	S/T	Tct/Act		1		1	IFIT3	HGNC	HGNC:5411	protein_coding	YES	CCDS7402.1	ENSP00000360883	O14879	Q5T765	UPI000012D3E5	NM_001549.5	tolerated(0.22)		2/2		Gene3D:1.25.40.10,PROSITE_profiles:PS50293,hmmpanther:PTHR10271,hmmpanther:PTHR10271:SF3,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	64	89339175	89339175	T	A	1	0	0	0	0	1	0	0	0	7424	1551	54	4		4	IFIT3	10	89339175	Missense_Mutation	SNP	T	C3N-00737_TP	35530009	89339175	44458247	105	21241											
PDCD11	0	.	GRCh38	chr10	103441902	103441902	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggaatgtgggactagactCtctgaccccggccttgccac	7	10	11	13	1	1	2	0	1	1	1	2	4	1	4	4	3	1	0	4	3	2	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.4634C>G	p.Ser1545Cys	p.S1545C	ENST00000369797	31/36	232	194	38	201	201	0	strelka-varscan-mutect	PDCD11,missense_variant,p.Ser1545Cys,ENST00000369797,NM_014976.1;CALHM2,downstream_gene_variant,,ENST00000260743,NM_015916.4;CALHM2,downstream_gene_variant,,ENST00000369788,;PDCD11,upstream_gene_variant,,ENST00000478543,;	G	ENST00000369797	Transcript	missense_variant	4728/6453	4634/5616	1545/1871	S/C	tCt/tGt		1		1	PDCD11	HGNC	HGNC:13408	protein_coding	YES	CCDS31276.1	ENSP00000358812	Q14690		UPI00001C1ED1	NM_014976.1	deleterious(0)		31/36		hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF10																	MODERATE	1	SNV	1			1										PASS		rs1483740559	.												G	3	3	64	103441902	103441902	C	G	1	0	0	0	0	1	0	0	0	11705	913	32	4		4	PDCD11	10	103441902	Missense_Mutation	SNP	C	C3N-00737_TP	14102727	103441902	30355520	106	21242											
EIF3A	0	.	GRCh38	chr10	119073852	119073852	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacataattggttcgtgtatCttttgccatgttctatgttt	8	20	7	6	1	2	0	0	0	2	0	3	0	2	0	1	1	2	4	1	1	4	9	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.135G>C	p.Lys45Asn	p.K45N	ENST00000369144	2/22	139	121	18	137	137	0	strelka-varscan-mutect	EIF3A,missense_variant,p.Lys45Asn,ENST00000369144,NM_003750.2;EIF3A,missense_variant,p.Lys45Asn,ENST00000541549,;	G	ENST00000369144	Transcript	missense_variant	263/6646	135/4149	45/1382	K/N	aaG/aaC		1		-1	EIF3A	HGNC	HGNC:3271	protein_coding	YES	CCDS7608.1	ENSP00000358140	Q14152		UPI000012D311	NM_003750.2	deleterious(0.03)		2/22		HAMAP:MF_03000,hmmpanther:PTHR14005																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	119073852	119073852	C	G	1	0	0	0	0	1	0	0	0	4846	912	32	4		4	EIF3A	10	119073852	Missense_Mutation	SNP	C	C3N-00737_TP	15631950	119073852	14723570	107	21243											
CHST15	0	.	GRCh38	chr10	124044733	124044733	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggcggaagtgcttccCgtgcgcgtgcgccaggtggc	4	6	18	13	6	0	0	0	0	0	0	1	1	1	1	2	4	3	2	2	4	1	1	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.733G>T	p.Gly245Trp	p.G245W	ENST00000435907	3/8	123	110	13	92	92	0	strelka-varscan-mutect	CHST15,missense_variant,p.Gly245Trp,ENST00000435907,NM_001270764.1;CHST15,missense_variant,p.Gly245Trp,ENST00000346248,NM_015892.4;CHST15,missense_variant,p.Gly245Trp,ENST00000628426,NM_001270765.1,NM_014863.3;CHST15,downstream_gene_variant,,ENST00000462406,;	A	ENST00000435907	Transcript	missense_variant	1384/4820	733/1686	245/561	G/W	Ggg/Tgg		1		-1	CHST15	HGNC	HGNC:18137	protein_coding	YES	CCDS7638.1	ENSP00000402394	Q7LFX5		UPI000004D06B	NM_001270764.1	deleterious(0)		3/8		hmmpanther:PTHR15723,hmmpanther:PTHR15723:SF0,Gene3D:3.40.50.300																	MODERATE	1	SNV	1			1										PASS		rs878912191	.												A	3	1	64	124044733	124044733	C	A	1	0	0	0	0	1	0	0	0	3163	652	23	1		1	CHST15	10	124044733	Missense_Mutation	SNP	C	C3N-00737_TP	4970881	124044733	9752689	108	21244											
PTDSS2	0	.	GRCh38	chr11	490475	490475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagtggcagaacaaggatGaccagggcagcaccgtcggc	13	3	15	10	2	0	3	0	1	0	2	1	4	0	4	2	4	2	3	2	4	3	0	rs762215454		C3N-00737_TP	C3N-00737_NB	G	G																c.1357G>A	p.Asp453Asn	p.D453N	ENST00000308020	12/12	424	377	47	336	336	0	strelka-varscan-mutect	PTDSS2,missense_variant,p.Asp453Asn,ENST00000308020,NM_030783.1;RNH1,downstream_gene_variant,,ENST00000534797,;RNH1,downstream_gene_variant,,ENST00000397615,NM_203383.1,NM_002939.3;RNH1,downstream_gene_variant,,ENST00000354420,NM_203387.2;RNH1,downstream_gene_variant,,ENST00000397614,NM_203385.1;RNH1,downstream_gene_variant,,ENST00000533410,NM_203386.2;RNH1,downstream_gene_variant,,ENST00000356187,NM_203389.2;RNH1,downstream_gene_variant,,ENST00000438658,NM_203384.1;RNH1,downstream_gene_variant,,ENST00000397604,NM_203388.2;RNH1,downstream_gene_variant,,ENST00000529768,;PTDSS2,downstream_gene_variant,,ENST00000532614,;PTDSS2,non_coding_transcript_exon_variant,,ENST00000526878,;PTDSS2,non_coding_transcript_exon_variant,,ENST00000531411,;PTDSS2,non_coding_transcript_exon_variant,,ENST00000530029,;RNH1,downstream_gene_variant,,ENST00000525522,;RNH1,downstream_gene_variant,,ENST00000525701,;PTDSS2,downstream_gene_variant,,ENST00000531520,;PTDSS2,downstream_gene_variant,,ENST00000527325,;RNH1,downstream_gene_variant,,ENST00000524464,;	A	ENST00000308020	Transcript	missense_variant	1533/2445	1357/1464	453/487	D/N	Gac/Aac	rs762215454	1		1	PTDSS2	HGNC	HGNC:15463	protein_coding	YES	CCDS7696.1	ENSP00000308258	Q9BVG9	A0A024RC97	UPI000004124C	NM_030783.1	deleterious(0.03)		12/12		hmmpanther:PTHR15362,hmmpanther:PTHR15362:SF12																	MODERATE	1	SNV	1			1										PASS		rs762215454	.												A	3	1	64	490475	490475	G	A	1	0	0	0	0	1	0	0	0	12890	1290	45	3		3	PTDSS2	11	490475	Missense_Mutation	SNP	G	C3N-00737_TP		490475	134596147	109	21245											
OR10A2	0	.	GRCh38	chr11	6870459	6870459	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacacctccttgttgtCtctcttttctatatatcatt	6	20	2	13	0	5	0	2	0	3	0	8	0	7	0	3	0	0	1	3	0	3	8			C3N-00737_TP	C3N-00737_NB	C	C																c.705C>A	p.=	p.V235V	ENST00000307322	1/1	205	177	28	238	237	1	strelka-varscan-mutect	OR10A2,synonymous_variant,p.=,ENST00000307322,NM_001004460.1;RP11-413N10.3,intron_variant,,ENST00000637205,;	A	ENST00000307322	Transcript	synonymous_variant	767/1053	705/912	235/303	V	gtC/gtA	COSM5436306	1		1	OR10A2	HGNC	HGNC:8161	protein_coding	YES	CCDS31415.1	ENSP00000303862	Q9H208		UPI000015F21C	NM_001004460.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						LOW	1	SNV			1	1										PASS		.	.												A	2	1	64	6870459	6870459	C	A	1	0	0	0	0	0	0	0	1	10966	900	32	2		2	OR10A2	11	6870459	Silent	SNP	C	C3N-00737_TP	6379984	6870459	128216163	110	21246											
RNF141	0	.	GRCh38	chr11	10514995	10514995	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcttcagtgggtgcatctGataccacccaagattcattt	10	13	7	11	0	4	2	2	1	2	1	4	2	4	2	2	1	2	1	2	1	2	4	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.614C>G	p.Ser205Ter	p.S205*	ENST00000265981	6/6	216	201	15	206	206	0	strelka-varscan-mutect	RNF141,stop_gained,p.Ser205Ter,ENST00000265981,NM_016422.3;RNF141,downstream_gene_variant,,ENST00000528665,;RNF141,downstream_gene_variant,,ENST00000533412,;RNF141,non_coding_transcript_exon_variant,,ENST00000534281,;	C	ENST00000265981	Transcript	stop_gained	757/4074	614/693	205/230	S/*	tCa/tGa		1		-1	RNF141	HGNC	HGNC:21159	protein_coding	YES	CCDS7803.1	ENSP00000265981	Q8WVD5		UPI000006DA5A	NM_016422.3			6/6		hmmpanther:PTHR12109																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	64	10514995	10514995	G	C	1	0	0	0	0	0	1	0	0	13622	1294	45	4		4	RNF141	11	10514995	Nonsense_Mutation	SNP	G	C3N-00737_TP	3644536	10514995	124571627	111	21247											
ACCSL	0	.	GRCh38	chr11	44048040	44048040	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagatacccggagtatgAgtcatcggtcagacaccctt	12	9	10	10	2	2	3	2	1	0	2	3	4	2	4	2	2	1	2	2	2	4	4	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.4A>T	p.Ser2Cys	p.S2C	ENST00000378832	1/14	88	76	12	100	100	0	strelka-varscan-mutect	ACCSL,missense_variant,p.Ser2Cys,ENST00000378832,NM_001031854.2;ACCSL,missense_variant,p.Ser2Cys,ENST00000527145,;	T	ENST00000378832	Transcript	missense_variant	60/1820	4/1707	2/568	S/C	Agt/Tgt		1		1	ACCSL	HGNC	HGNC:34391	protein_coding	YES	CCDS41636.1	ENSP00000368109	Q4AC99		UPI000023785D	NM_001031854.2	deleterious_low_confidence(0)		1/14																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	44048040	44048040	A	T	1	0	0	0	0	1	0	0	0	172	304	11	4		4	ACCSL	11	44048040	Missense_Mutation	SNP	A	C3N-00737_TP	33533045	44048040	91038582	112	21248											
ARHGAP1	0	.	GRCh38	chr11	46679413	46679413	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacctggtagttctcctcGggcagcgtctggaggacctg	6	9	14	12	2	2	0	0	0	2	0	4	2	2	2	3	4	2	4	3	4	1	2	rs773769674		C3N-00737_TP	C3N-00737_NB	G	G																c.1083C>T	p.=	p.P361P	ENST00000311956	12/13	240	212	28	211	211	0	strelka-varscan-mutect	ARHGAP1,synonymous_variant,p.=,ENST00000311956,NM_004308.3;ARHGAP1,synonymous_variant,p.=,ENST00000528837,;ATG13,downstream_gene_variant,,ENST00000359513,NM_001205120.1,NM_001142673.2;ATG13,downstream_gene_variant,,ENST00000526508,;ATG13,downstream_gene_variant,,ENST00000524625,NM_014741.4;ARHGAP1,downstream_gene_variant,,ENST00000525488,;ATG13,downstream_gene_variant,,ENST00000526485,;ARHGAP1,non_coding_transcript_exon_variant,,ENST00000526423,;	A	ENST00000311956	Transcript	synonymous_variant	1181/3375	1083/1320	361/439	P	ccC/ccT	rs773769674,COSM1353979	1		-1	ARHGAP1	HGNC	HGNC:673	protein_coding	YES	CCDS7922.1	ENSP00000310491	Q07960		UPI0000040691	NM_004308.3			12/13		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR23176,hmmpanther:PTHR23176:SF28,SMART_domains:SM00324,Superfamily_domains:SSF48350											0,1						LOW	1	SNV	1		0,1	1										PASS		rs773769674	.												A	2	1	64	46679413	46679413	G	A	1	0	0	0	0	0	0	0	1	985	1103	39	1		1	ARHGAP1	11	46679413	Silent	SNP	G	C3N-00737_TP	2631373	46679413	88407209	113	21249											
OR4S2	0	.	GRCh38	chr11	55651381	55651381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actccattatccaagtggctCtggtagtccaactacccttt	9	13	6	13	0	1	0	0	0	1	0	4	0	4	0	4	2	2	2	4	2	5	4			C3N-00737_TP	C3N-00737_NB	C	C																c.478C>T	p.=	p.L160L	ENST00000312422	1/1	92	73	19	95	95	0	strelka-varscan-mutect	OR4S2,synonymous_variant,p.=,ENST00000312422,NM_001004059.2;	T	ENST00000312422	Transcript	synonymous_variant	478/936	478/936	160/311	L	Ctg/Ttg	COSM3448943	1		1	OR4S2	HGNC	HGNC:15183	protein_coding	YES	CCDS31505.1	ENSP00000310337	Q8NH73	A0A126GVG1	UPI00001D77D2	NM_001004059.2			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF110,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	64	55651381	55651381	C	T	1	0	0	0	0	0	0	0	1	11159	912	32	3		3	OR4S2	11	55651381	Silent	SNP	C	C3N-00737_TP	8971968	55651381	79435241	114	21250											
OR5T3	0	.	GRCh38	chr11	56252769	56252769	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacatgctactatacatatAgtggctacatttagcctgtc	11	15	6	9	0	0	0	0	0	0	0	1	0	0	0	1	1	6	2	1	1	8	9	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.570A>G	p.Ile190Met	p.I190M	ENST00000303059	1/1	260	234	26	327	326	1	varscan-mutect	OR5T3,missense_variant,p.Ile190Met,ENST00000303059,NM_001004747.1;	G	ENST00000303059	Transcript	missense_variant	570/1023	570/1023	190/340	I/M	atA/atG		1		1	OR5T3	HGNC	HGNC:15297	protein_coding	YES	CCDS31524.1	ENSP00000305403	Q8NGG3		UPI0000061E96	NM_001004747.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs915824479	.												G	3	3	64	56252769	56252769	A	G	1	0	0	0	0	1	0	0	0	11251	410	15	5		5	OR5T3	11	56252769	Missense_Mutation	SNP	A	C3N-00737_TP	601388	56252769	78833853	115	21251											
OR5T3	0	.	GRCh38	chr11	56253050	56253050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgacaatttatcatggaaCaattctcgtcagttatatga	14	14	7	6	1	3	2	2	2	1	0	4	3	3	3	0	1	1	1	0	1	6	5	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.851C>A	p.Thr284Lys	p.T284K	ENST00000303059	1/1	187	163	24	188	188	0	strelka-varscan-mutect	OR5T3,missense_variant,p.Thr284Lys,ENST00000303059,NM_001004747.1;	A	ENST00000303059	Transcript	missense_variant	851/1023	851/1023	284/340	T/K	aCa/aAa		1		1	OR5T3	HGNC	HGNC:15297	protein_coding	YES	CCDS31524.1	ENSP00000305403	Q8NGG3		UPI0000061E96	NM_001004747.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1411723444	.												A	3	1	64	56253050	56253050	C	A	1	0	0	0	0	1	0	0	0	11251	478	17	2		2	OR5T3	11	56253050	Missense_Mutation	SNP	C	C3N-00737_TP	281	56253050	78833572	116	21252											
SYTL2	0	.	GRCh38	chr11	85734040	85734040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccatagactgtggtcttGcagttaaaacttctgaatga	11	14	8	8	0	3	3	0	2	3	1	4	3	3	3	1	1	2	2	1	1	4	4	rs753365696		C3N-00737_TP	C3N-00737_NB	G	G																c.1289C>T	p.Ala430Val	p.A430V	ENST00000316356	7/19	307	283	24	294	294	0	strelka-varscan-mutect	SYTL2,missense_variant,p.Ala430Val,ENST00000634661,;SYTL2,missense_variant,p.Ala429Val,ENST00000389960,NM_032943.4;SYTL2,missense_variant,p.Ala430Val,ENST00000316356,;SYTL2,missense_variant,p.Ala430Val,ENST00000359152,NM_001162953.2;SYTL2,missense_variant,p.Ala429Val,ENST00000528231,NM_001162951.2;SYTL2,missense_variant,p.Ala381Val,ENST00000527523,NM_001289608.1;SYTL2,missense_variant,p.Ala429Val,ENST00000524452,;SYTL2,non_coding_transcript_exon_variant,,ENST00000438197,;	A	ENST00000316356	Transcript	missense_variant	1854/4293	1289/2808	430/935	A/V	gCa/gTa	rs753365696	1		-1	SYTL2	HGNC	HGNC:15585	protein_coding	YES	CCDS53689.1	ENSP00000318803	Q9HCH5		UPI0001917079		tolerated(0.36)		7/19		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF10																	MODERATE	1	SNV	5			1										PASS		rs753365696	.												A	3	1	64	85734040	85734040	G	A	1	0	0	0	0	1	0	0	0	15877	1319	46	3		3	SYTL2	11	85734040	Missense_Mutation	SNP	G	C3N-00737_TP	29480990	85734040	49352582	117	21253											
CD3G	0	.	GRCh38	chr11	118349775	118349775	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaaggtgtatgactatcaaGaagatggttcggtacttctg	11	14	11	5	1	2	3	1	1	1	2	3	3	2	3	0	3	1	3	0	3	6	6	rs749951677		C3N-00737_TP	C3N-00737_NB	G	G																c.112G>C	p.Glu38Gln	p.E38Q	ENST00000532917	3/7	401	363	38	375	375	0	strelka-varscan-mutect	CD3G,missense_variant,p.Glu38Gln,ENST00000532917,NM_000073.2;CD3G,5_prime_UTR_variant,,ENST00000392883,;CD3G,non_coding_transcript_exon_variant,,ENST00000532903,;CD3G,non_coding_transcript_exon_variant,,ENST00000528540,;CD3G,3_prime_UTR_variant,,ENST00000292144,;CD3G,non_coding_transcript_exon_variant,,ENST00000533462,;CD3G,non_coding_transcript_exon_variant,,ENST00000527777,;	C	ENST00000532917	Transcript	missense_variant	180/2678	112/549	38/182	E/Q	Gaa/Caa	rs749951677	1		1	CD3G	HGNC	HGNC:1675	protein_coding	YES	CCDS8395.1	ENSP00000431445	P09693	B0YIY5	UPI000012735F	NM_000073.2	tolerated(0.41)		3/7		hmmpanther:PTHR10570,hmmpanther:PTHR10570:SF8,Gene3D:2.60.40.10,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	64	118349775	118349775	G	C	1	0	0	0	0	1	0	0	0	2717	943	33	4		4	CD3G	11	118349775	Missense_Mutation	SNP	G	C3N-00737_TP	32615735	118349775	16736847	118	21254											
EI24	0	.	GRCh38	chr11	125575332	125575332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcgaatccagcaaaagagaGaggagcagcgtcgaagaagg	16	3	14	8	3	0	3	0	0	0	3	3	7	1	4	1	2	3	2	1	2	5	0	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.112G>C	p.Glu38Gln	p.E38Q	ENST00000278903	3/11	193	171	22	171	171	0	strelka-varscan-mutect	EI24,missense_variant,p.Glu38Gln,ENST00000278903,NM_004879.4;EI24,missense_variant,p.Glu38Gln,ENST00000620753,;EI24,missense_variant,p.Glu38Gln,ENST00000527235,;EI24,missense_variant,p.Glu24Gln,ENST00000534546,NM_001290135.1;EI24,missense_variant,p.Glu38Gln,ENST00000524723,;EI24,missense_variant,p.Glu38Gln,ENST00000527842,;EI24,missense_variant,p.Glu38Gln,ENST00000527131,;EI24,missense_variant,p.Glu24Gln,ENST00000527520,;EI24,5_prime_UTR_variant,,ENST00000618552,;EI24,intron_variant,,ENST00000615917,;EI24,downstream_gene_variant,,ENST00000529812,;RNU6-1156P,downstream_gene_variant,,ENST00000410365,;STT3A-AS1,intron_variant,,ENST00000530526,;EI24,missense_variant,p.Glu22Asp,ENST00000531636,;EI24,non_coding_transcript_exon_variant,,ENST00000529765,;	C	ENST00000278903	Transcript	missense_variant	540/2455	112/1023	38/340	E/Q	Gag/Cag		1		1	EI24	HGNC	HGNC:13276	protein_coding	YES	CCDS73410.1	ENSP00000278903	O14681	A0A024R3I8	UPI000006CFDB	NM_004879.4	tolerated(0.18)		3/11		Low_complexity_(Seg):seg,hmmpanther:PTHR21389:SF0,hmmpanther:PTHR21389																	MODERATE	1	SNV	1			1										PASS		rs961210908	.												C	3	2	64	125575332	125575332	G	C	1	0	0	0	0	1	0	0	0	4821	943	33	4		4	EI24	11	125575332	Missense_Mutation	SNP	G	C3N-00737_TP	7225557	125575332	9511290	119	21255											
SRPRA	0	.	GRCh38	chr11	126264474	126264474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggccagggcagtcatcaGaggggcattgtcttgcatgc	7	11	14	9	0	3	1	2	0	1	1	3	1	3	1	1	4	2	3	1	4	0	3	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.1591C>T	p.=	p.L531L	ENST00000332118	12/14	226	202	24	211	211	0	strelka-varscan-mutect	SRPRA,synonymous_variant,p.=,ENST00000332118,NM_003139.3;SRPRA,synonymous_variant,p.=,ENST00000532259,NM_001177842.1;FAM118B,downstream_gene_variant,,ENST00000533050,NM_024556.3;FOXRED1,upstream_gene_variant,,ENST00000263578,NM_017547.3;FAM118B,downstream_gene_variant,,ENST00000627851,;FOXRED1,upstream_gene_variant,,ENST00000532125,;FAM118B,downstream_gene_variant,,ENST00000360194,;FAM118B,downstream_gene_variant,,ENST00000528985,;FAM118B,downstream_gene_variant,,ENST00000529731,;FOXRED1,upstream_gene_variant,,ENST00000534011,;FOXRED1,upstream_gene_variant,,ENST00000533839,;SRPRA,downstream_gene_variant,,ENST00000530680,;FOXRED1,upstream_gene_variant,,ENST00000526366,;SRPRA,non_coding_transcript_exon_variant,,ENST00000532268,;FAM118B,downstream_gene_variant,,ENST00000531935,;FOXRED1,upstream_gene_variant,,ENST00000527004,;FOXRED1,upstream_gene_variant,,ENST00000525770,;FOXRED1,upstream_gene_variant,,ENST00000525083,;FOXRED1,upstream_gene_variant,,ENST00000532101,;FOXRED1,upstream_gene_variant,,ENST00000524751,;SRPRA,downstream_gene_variant,,ENST00000528744,;SRPRA,downstream_gene_variant,,ENST00000527817,;FOXRED1,upstream_gene_variant,,ENST00000526525,;FOXRED1,upstream_gene_variant,,ENST00000529802,;SRPRA,downstream_gene_variant,,ENST00000531104,;	A	ENST00000332118	Transcript	synonymous_variant	1746/3069	1591/1917	531/638	L	Ctg/Ttg		1		-1	SRPRA	HGNC	HGNC:11307	protein_coding	YES	CCDS31717.1	ENSP00000328023	P08240		UPI0000135F5A	NM_003139.3			12/14		hmmpanther:PTHR11564,Gene3D:3.40.50.300,Pfam_domain:PF00448,SMART_domains:SM00962,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	64	126264474	126264474	G	A	1	0	0	0	0	0	0	0	1	15523	933	33	3		3	SRPRA	11	126264474	Silent	SNP	G	C3N-00737_TP	689142	126264474	8822148	120	21256											
ARHGAP32	0	.	GRCh38	chr11	128973232	128973232	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagattatcttcagttgtagCcaccgctatgtctccataat	10	14	6	11	1	3	1	1	0	2	1	4	1	3	1	3	0	1	3	3	0	4	6	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.3232G>T	p.Ala1078Ser	p.A1078S	ENST00000310343	21/22	444	414	30	416	414	2	strelka-varscan-mutect	ARHGAP32,missense_variant,p.Ala1078Ser,ENST00000310343,NM_001142685.1;ARHGAP32,missense_variant,p.Ala729Ser,ENST00000392657,NM_014715.3;ARHGAP32,missense_variant,p.Ala729Ser,ENST00000527272,;ARHGAP32,3_prime_UTR_variant,,ENST00000524655,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000526162,;	A	ENST00000310343	Transcript	missense_variant	3232/10111	3232/6264	1078/2087	A/S	Gct/Tct		1		-1	ARHGAP32	HGNC	HGNC:17399	protein_coding	YES	CCDS44769.1	ENSP00000310561	A7KAX9		UPI000159C61F	NM_001142685.1	deleterious_low_confidence(0.03)		21/22		hmmpanther:PTHR15729:SF9,hmmpanther:PTHR15729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	64	128973232	128973232	C	A	1	0	0	0	0	1	0	0	0	1006	739	26	2		2	ARHGAP32	11	128973232	Missense_Mutation	SNP	C	C3N-00737_TP	2708758	128973232	6113390	121	21257											
FGF6	0	.	GRCh38	chr12	4445405	4445405	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagacctggacagcagggTgccccagcccctcgagtcca	8	4	13	16	2	0	1	0	0	0	1	2	4	1	2	6	2	3	1	6	2	0	0	novel		C3N-00737_TP	C3N-00737_NB	T	T																c.166A>T	p.Thr56Ser	p.T56S	ENST00000228837	1/3	283	246	37	263	263	0	strelka-varscan-mutect	FGF6,missense_variant,p.Thr56Ser,ENST00000228837,NM_020996.2;FGF6,upstream_gene_variant,,ENST00000543077,;	A	ENST00000228837	Transcript	missense_variant	210/743	166/627	56/208	T/S	Acc/Tcc		1		-1	FGF6	HGNC	HGNC:3684	protein_coding	YES	CCDS8527.1	ENSP00000228837	P10767		UPI00000411BF	NM_020996.2	tolerated(0.63)		1/3		hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF25																	MODERATE	1	SNV	1			1										PASS		rs1321896007	.												A	3	1	64	4445405	4445405	T	A	1	0	0	0	0	1	0	0	0	5720	1696	59	4		4	FGF6	12	4445405	Missense_Mutation	SNP	T	C3N-00737_TP		4445405	128829904	122	21258											
ABCC9	0	.	GRCh38	chr12	21815891	21815891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgttctggaacttgagaagGatctggaggatgggatgggg	10	10	18	3	0	2	1	0	1	2	1	2	7	2	6	0	7	1	1	0	7	2	2			C3N-00737_TP	C3N-00737_NB	G	G																c.3895C>A	p.Pro1299Thr	p.P1299T	ENST00000261200	32/38	380	342	38	349	348	1	strelka-varscan-mutect	ABCC9,missense_variant,p.Pro1299Thr,ENST00000261200,NM_020297.3;ABCC9,missense_variant,p.Pro1299Thr,ENST00000261201,NM_005691.3;ABCC9,missense_variant,p.Pro926Thr,ENST00000544039,;	T	ENST00000261200	Transcript	missense_variant,splice_region_variant	3895/8293	3895/4650	1299/1549	P/T	Cct/Act	COSM3459275,COSM3459276	1		-1	ABCC9	HGNC	HGNC:60	protein_coding	YES	CCDS8693.1	ENSP00000261200	O60706		UPI000013D13F	NM_020297.3	tolerated(0.08)		32/38		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF173											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	64	21815891	21815891	G	T	1	0	0	0	0	1	0	0	0	63	1188	41	2		2	ABCC9	12	21815891	Missense_Mutation	SNP	G	C3N-00737_TP	17370486	21815891	111459418	123	21259											
BLOC1S1	0	.	GRCh38	chr12	55716068	55716068	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgacatggccccggggagccGaggtgagcgttccagcttcc	6	7	15	13	3	0	2	0	2	0	0	2	4	2	3	5	4	3	2	5	4	0	2	rs545542768		C3N-00737_TP	C3N-00737_NB	G	G																c.17G>C	p.Arg6Pro	p.R6P	ENST00000550412	1/4	101	75	26	115	115	0	strelka-varscan-mutect	RP11-644F5.10,missense_variant,p.Arg6Pro,ENST00000550412,;BLOC1S1,missense_variant,p.Arg6Pro,ENST00000549147,;BLOC1S1,missense_variant,p.Arg6Pro,ENST00000548925,NM_001487.3;ITGA7,upstream_gene_variant,,ENST00000452168,NM_001144997.1;RDH5,upstream_gene_variant,,ENST00000257895,NM_002905.3,NM_001199771.1;RDH5,upstream_gene_variant,,ENST00000548082,;RDH5,upstream_gene_variant,,ENST00000547072,;BLOC1S1,upstream_gene_variant,,ENST00000547076,;ITGA7,upstream_gene_variant,,ENST00000557257,;BLOC1S1,upstream_gene_variant,,ENST00000551926,;RDH5,upstream_gene_variant,,ENST00000552930,;BLOC1S1,upstream_gene_variant,,ENST00000548556,;RP11-644F5.10,upstream_gene_variant,,ENST00000549424,;RDH5,upstream_gene_variant,,ENST00000553160,;RP11-644F5.10,missense_variant,p.Arg6Pro,ENST00000551946,;RDH5,upstream_gene_variant,,ENST00000550608,;ITGA7,upstream_gene_variant,,ENST00000553276,;RDH5,upstream_gene_variant,,ENST00000548486,;RP11-644F5.10,upstream_gene_variant,,ENST00000257899,;RDH5,upstream_gene_variant,,ENST00000553187,;ITGA7,upstream_gene_variant,,ENST00000555687,;ITGA7,upstream_gene_variant,,ENST00000553737,;ITGA7,upstream_gene_variant,,ENST00000555809,;RDH5,upstream_gene_variant,,ENST00000547301,;ITGA7,upstream_gene_variant,,ENST00000553893,;ITGA7,upstream_gene_variant,,ENST00000556273,;ITGA7,upstream_gene_variant,,ENST00000554724,;ITGA7,upstream_gene_variant,,ENST00000556371,;BLOC1S1,upstream_gene_variant,,ENST00000553100,;	C	ENST00000550412	Transcript	missense_variant	33/3382	17/369	6/122	R/P	cGa/cCa	rs545542768	1		1	RP11-644F5.10	Clone_based_vega_gene		protein_coding	YES		ENSP00000447650		F8W036	UPI0000D46D68		tolerated_low_confidence(0.07)		1/4		hmmpanther:PTHR13073,hmmpanther:PTHR13073:SF1,Low_complexity_(Seg):seg																	MODERATE		SNV	2			1										PASS		rs545542768	.												C	3	2	64	55716068	55716068	G	C	1	0	0	0	0	1	0	0	0	1600	1058	37	4		4	BLOC1S1	12	55716068	Missense_Mutation	SNP	G	C3N-00737_TP	33900177	55716068	77559241	124	21260			1	17		4	3	107	N	G_C	2.127724e-07
BLOC1S1	0	.	GRCh38	chr12	55716094	55716094	+	Silent	SNP	C	C	A																															agcgttccagcttccggagcCggagggggcccggcgtaccc																								rs555408502		C3N-00737_TP	C3N-00737_NB	C	C																c.43C>A	p.=	p.R15R	ENST00000550412	1/4	145	113	32	136	136	0	strelka-varscan-mutect	RP11-644F5.10,synonymous_variant,p.=,ENST00000550412,;BLOC1S1,synonymous_variant,p.=,ENST00000549147,;BLOC1S1,synonymous_variant,p.=,ENST00000548925,NM_001487.3;ITGA7,upstream_gene_variant,,ENST00000452168,NM_001144997.1;RDH5,upstream_gene_variant,,ENST00000257895,NM_002905.3,NM_001199771.1;RDH5,upstream_gene_variant,,ENST00000548082,;RDH5,upstream_gene_variant,,ENST00000547072,;BLOC1S1,upstream_gene_variant,,ENST00000547076,;ITGA7,upstream_gene_variant,,ENST00000557257,;BLOC1S1,upstream_gene_variant,,ENST00000551926,;RDH5,upstream_gene_variant,,ENST00000552930,;BLOC1S1,upstream_gene_variant,,ENST00000548556,;RP11-644F5.10,upstream_gene_variant,,ENST00000549424,;RDH5,upstream_gene_variant,,ENST00000553160,;RP11-644F5.10,synonymous_variant,p.=,ENST00000551946,;RP11-644F5.10,synonymous_variant,p.=,ENST00000257899,;BLOC1S1,synonymous_variant,p.=,ENST00000553100,;RDH5,upstream_gene_variant,,ENST00000550608,;ITGA7,upstream_gene_variant,,ENST00000553276,;RDH5,upstream_gene_variant,,ENST00000548486,;RDH5,upstream_gene_variant,,ENST00000553187,;ITGA7,upstream_gene_variant,,ENST00000555687,;ITGA7,upstream_gene_variant,,ENST00000553737,;ITGA7,upstream_gene_variant,,ENST00000555809,;RDH5,upstream_gene_variant,,ENST00000547301,;ITGA7,upstream_gene_variant,,ENST00000553893,;ITGA7,upstream_gene_variant,,ENST00000556273,;ITGA7,upstream_gene_variant,,ENST00000554724,;ITGA7,upstream_gene_variant,,ENST00000556371,;	A	ENST00000550412	Transcript	synonymous_variant	59/3382	43/369	15/122	R	Cgg/Agg	rs555408502	1		1	RP11-644F5.10	Clone_based_vega_gene		protein_coding	YES		ENSP00000447650		F8W036	UPI0000D46D68				1/4		hmmpanther:PTHR13073,hmmpanther:PTHR13073:SF1,Low_complexity_(Seg):seg																	LOW		SNV	2			1										PASS		rs555408502	.												A	2	1	64	55716094	55716094	C	A	1	0	0	0	0	0	0	0	1	1600	643	23	1		1	BLOC1S1	12	55716094	Silent	SNP	C	C3N-00737_TP	26	55716094	77559215	125	21261	453	2	1	17		4	3	107	N	G_C	2.127724e-07
BLOC1S1	0	.	GRCh38	chr12	55716096	55716096	+	Silent	SNP	G	G	A																															cgttccagcttccggagccgGagggggcccggcgtacccag																								novel		C3N-00737_TP	C3N-00737_NB	G	G																c.45G>A	p.=	p.R15R	ENST00000550412	1/4	156	124	32	138	138	0	strelka-varscan-mutect	RP11-644F5.10,synonymous_variant,p.=,ENST00000550412,;BLOC1S1,synonymous_variant,p.=,ENST00000549147,;BLOC1S1,synonymous_variant,p.=,ENST00000548925,NM_001487.3;ITGA7,upstream_gene_variant,,ENST00000452168,NM_001144997.1;RDH5,upstream_gene_variant,,ENST00000257895,NM_002905.3,NM_001199771.1;RDH5,upstream_gene_variant,,ENST00000548082,;RDH5,upstream_gene_variant,,ENST00000547072,;BLOC1S1,upstream_gene_variant,,ENST00000547076,;ITGA7,upstream_gene_variant,,ENST00000557257,;BLOC1S1,upstream_gene_variant,,ENST00000551926,;RDH5,upstream_gene_variant,,ENST00000552930,;BLOC1S1,upstream_gene_variant,,ENST00000548556,;RP11-644F5.10,upstream_gene_variant,,ENST00000549424,;RDH5,upstream_gene_variant,,ENST00000553160,;RP11-644F5.10,synonymous_variant,p.=,ENST00000551946,;RP11-644F5.10,synonymous_variant,p.=,ENST00000257899,;BLOC1S1,synonymous_variant,p.=,ENST00000553100,;RDH5,upstream_gene_variant,,ENST00000550608,;ITGA7,upstream_gene_variant,,ENST00000553276,;RDH5,upstream_gene_variant,,ENST00000548486,;RDH5,upstream_gene_variant,,ENST00000553187,;ITGA7,upstream_gene_variant,,ENST00000555687,;ITGA7,upstream_gene_variant,,ENST00000553737,;ITGA7,upstream_gene_variant,,ENST00000555809,;RDH5,upstream_gene_variant,,ENST00000547301,;ITGA7,upstream_gene_variant,,ENST00000553893,;ITGA7,upstream_gene_variant,,ENST00000556273,;ITGA7,upstream_gene_variant,,ENST00000554724,;ITGA7,upstream_gene_variant,,ENST00000556371,;	A	ENST00000550412	Transcript	synonymous_variant	61/3382	45/369	15/122	R	cgG/cgA		1		1	RP11-644F5.10	Clone_based_vega_gene		protein_coding	YES		ENSP00000447650		F8W036	UPI0000D46D68				1/4		hmmpanther:PTHR13073,hmmpanther:PTHR13073:SF1,Low_complexity_(Seg):seg																	LOW		SNV	2			1										PASS		.	.												A	2	1	64	55716096	55716096	G	A	1	0	0	0	0	0	0	0	1	1600	1161	41	3		3	BLOC1S1	12	55716096	Silent	SNP	G	C3N-00737_TP	2	55716096	77559213	126	21262	453	2	1	17		4	3	107	N	G_C	2.127724e-07
BLOC1S1	0	.	GRCh38	chr12	55716174	55716174	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaacaccaggccaagcaGaatgaacgcaaggagctgca	18	2	11	10	1	0	3	0	1	0	2	0	4	0	4	2	2	5	4	2	2	6	0	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.123G>A	p.=	p.Q41Q	ENST00000550412	1/4	250	180	70	237	237	0	strelka-varscan-mutect	RP11-644F5.10,synonymous_variant,p.=,ENST00000550412,;BLOC1S1,synonymous_variant,p.=,ENST00000549147,;BLOC1S1,synonymous_variant,p.=,ENST00000548925,NM_001487.3;ITGA7,upstream_gene_variant,,ENST00000452168,NM_001144997.1;RDH5,upstream_gene_variant,,ENST00000257895,NM_002905.3,NM_001199771.1;RDH5,upstream_gene_variant,,ENST00000548082,;RDH5,upstream_gene_variant,,ENST00000547072,;BLOC1S1,upstream_gene_variant,,ENST00000547076,;ITGA7,upstream_gene_variant,,ENST00000557257,;BLOC1S1,upstream_gene_variant,,ENST00000551926,;RDH5,upstream_gene_variant,,ENST00000552930,;BLOC1S1,upstream_gene_variant,,ENST00000548556,;RP11-644F5.10,upstream_gene_variant,,ENST00000549424,;RDH5,upstream_gene_variant,,ENST00000553160,;RP11-644F5.10,synonymous_variant,p.=,ENST00000551946,;RP11-644F5.10,synonymous_variant,p.=,ENST00000257899,;BLOC1S1,synonymous_variant,p.=,ENST00000553100,;RDH5,upstream_gene_variant,,ENST00000550608,;ITGA7,upstream_gene_variant,,ENST00000553276,;RDH5,upstream_gene_variant,,ENST00000548486,;RDH5,upstream_gene_variant,,ENST00000553187,;ITGA7,upstream_gene_variant,,ENST00000555687,;ITGA7,upstream_gene_variant,,ENST00000553737,;ITGA7,upstream_gene_variant,,ENST00000555809,;RDH5,upstream_gene_variant,,ENST00000547301,;ITGA7,upstream_gene_variant,,ENST00000553893,;ITGA7,upstream_gene_variant,,ENST00000556273,;ITGA7,upstream_gene_variant,,ENST00000554724,;ITGA7,upstream_gene_variant,,ENST00000556371,;	A	ENST00000550412	Transcript	synonymous_variant	139/3382	123/369	41/122	Q	caG/caA		1		1	RP11-644F5.10	Clone_based_vega_gene		protein_coding	YES		ENSP00000447650		F8W036	UPI0000D46D68				1/4		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06320,hmmpanther:PTHR13073,hmmpanther:PTHR13073:SF1,Low_complexity_(Seg):seg																	LOW		SNV	2			1										PASS		.	.												A	2	1	64	55716174	55716174	G	A	1	0	0	0	0	0	0	0	1	1600	933	33	3		3	BLOC1S1	12	55716174	Silent	SNP	G	C3N-00737_TP	78	55716174	77559135	127	21263			1	17		4	3	107	N	G_C	2.127724e-07
ERBB3	0	.	GRCh38	chr12	56101609	56101609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaagaagaagatgaagatGaggagtatgaatacatgaac	19	7	12	3	0	0	9	0	5	0	4	0	10	0	10	0	1	2	1	0	1	8	2	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.3583G>C	p.Glu1195Gln	p.E1195Q	ENST00000267101	28/28	464	374	90	381	381	0	strelka-varscan-mutect	ERBB3,missense_variant,p.Glu1195Gln,ENST00000267101,NM_001982.3;ERBB3,missense_variant,p.Glu1136Gln,ENST00000415288,;ERBB3,missense_variant,p.Glu315Gln,ENST00000549832,;ERBB3,missense_variant,p.Glu436Gln,ENST00000553131,;ERBB3,missense_variant,p.Glu502Gln,ENST00000550070,;RP11-603J24.9,intron_variant,,ENST00000548861,;PA2G4,upstream_gene_variant,,ENST00000303305,NM_006191.2;PA2G4,upstream_gene_variant,,ENST00000552766,;PA2G4,upstream_gene_variant,,ENST00000551061,;PA2G4,upstream_gene_variant,,ENST00000553057,;RP11-603J24.17,downstream_gene_variant,,ENST00000548595,;ERBB3,3_prime_UTR_variant,,ENST00000551085,;ERBB3,3_prime_UTR_variant,,ENST00000551242,;ERBB3,downstream_gene_variant,,ENST00000550869,;ERBB3,downstream_gene_variant,,ENST00000548709,;ERBB3,downstream_gene_variant,,ENST00000552691,;	C	ENST00000267101	Transcript	missense_variant	4023/5919	3583/4029	1195/1342	E/Q	Gag/Cag		1		1	ERBB3	HGNC	HGNC:3431	protein_coding	YES	CCDS31833.1	ENSP00000267101	P21860		UPI000012A113	NM_001982.3	tolerated(0.26)		28/28		PIRSF_domain:PIRSF000619,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	64	56101609	56101609	G	C	1	0	0	0	0	1	0	0	0	5056	1291	45	4		4	ERBB3	12	56101609	Missense_Mutation	SNP	G	C3N-00737_TP	385435	56101609	77173700	128	21264											
RB1	0	.	GRCh38	chr13	48362958	48362958	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgaatgtaatatagatgagGtaatttaacttcatgatttc	15	16	7	3	0	1	4	1	3	0	1	2	4	1	4	0	1	1	2	0	1	6	8			C3N-00737_TP	C3N-00737_NB	G	G																c.861+1G>A		p.X287_splice	ENST00000267163		204	156	48	188	188	0	strelka-varscan-mutect	RB1,splice_donor_variant,,ENST00000267163,NM_000321.2;RB1,downstream_gene_variant,,ENST00000525036,;RB1,downstream_gene_variant,,ENST00000467505,;	A	ENST00000267163	Transcript	splice_donor_variant	-/4840	861/2787	287/928			CS0910389,COSM1514097,COSM1514098,COSM4169364,COSM4169365	1		1	RB1	HGNC	HGNC:9884	protein_coding	YES	CCDS31973.1	ENSP00000267163	P06400	A0A024RDV3	UPI0000001C79	NM_000321.2				8/26												0,1,1,1,1						HIGH	1	SNV	1		1,1,1,1,1	1										PASS		rs1064795296	.												A	5	1	64	48362958	48362958	G	A	1	0	0	0	0	0	0	1	0	13259	1275	44	3		3	RB1	13	48362958	Splice_Site	SNP	G	C3N-00737_TP		48362958	66001370	129	21265											
NALCN	0	.	GRCh38	chr13	101089902	101089902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagcctttcaaggagaGaacttcaaacaacgccagca	15	5	7	14	1	2	1	2	0	0	1	2	3	2	2	3	1	5	1	3	1	4	2	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.3334C>A	p.Leu1112Ile	p.L1112I	ENST00000251127	29/44	364	296	68	334	333	1	strelka-varscan-mutect	NALCN,missense_variant,p.Leu1112Ile,ENST00000251127,NM_052867.2;	T	ENST00000251127	Transcript	missense_variant	3416/6818	3334/5217	1112/1738	L/I	Ctc/Atc		1		-1	NALCN	HGNC	HGNC:19082	protein_coding	YES	CCDS9498.1	ENSP00000251127	Q8IZF0	A0A024RE05	UPI000004EBBD	NM_052867.2	deleterious(0)		29/44		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF214,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	101089902	101089902	G	T	1	0	0	0	0	1	0	0	0	10155	942	33	2		2	NALCN	13	101089902	Missense_Mutation	SNP	G	C3N-00737_TP	52726944	101089902	13274426	130	21266											
COL4A2	0	.	GRCh38	chr13	110450378	110450378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggcatccctgcgctctaCgggggcccacctggacctga	5	6	12	18	3	1	1	0	1	1	0	2	2	2	2	5	4	2	2	5	4	1	1	rs757264758		C3N-00737_TP	C3N-00737_NB	C	C																c.1263C>T	p.=	p.Y421Y	ENST00000360467	20/48	292	218	74	216	216	0	strelka-varscan-mutect	COL4A2,synonymous_variant,p.=,ENST00000360467,NM_001846.2;	T	ENST00000360467	Transcript	synonymous_variant	1569/6281	1263/5139	421/1712	Y	taC/taT	rs757264758,COSM4673812	1		1	COL4A2	HGNC	HGNC:2203	protein_coding	YES	CCDS41907.1	ENSP00000353654	P08572	A0A024RDW8	UPI000041C713	NM_001846.2			20/48													0,1						LOW	1	SNV	5		0,1	1										PASS		rs757264758	.												T	2	4	64	110450378	110450378	C	T	1	0	0	0	0	0	0	0	1	3479	547	19	1		1	COL4A2	13	110450378	Silent	SNP	C	C3N-00737_TP	9360476	110450378	3913950	131	21267											
PRKD1	0	.	GRCh38	chr14	29927426	29927426	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcccgggcccggacccTgggaccagtgcggcggccgc	3	2	19	17	6	0	0	0	0	0	0	0	2	0	2	5	6	1	0	5	6	0	0	novel		C3N-00737_TP	C3N-00737_NB	T	T																c.87A>C	p.=	p.P29P	ENST00000331968	1/18	125	115	10	95	95	0	varscan-mutect	PRKD1,synonymous_variant,p.=,ENST00000331968,NM_002742.2;PRKD1,synonymous_variant,p.=,ENST00000616995,;PRKD1,synonymous_variant,p.=,ENST00000415220,;PRKD1,intron_variant,,ENST00000549503,;	G	ENST00000331968	Transcript	synonymous_variant	317/3726	87/2739	29/912	P	ccA/ccC		1		-1	PRKD1	HGNC	HGNC:9407	protein_coding	YES	CCDS9637.1	ENSP00000333568	Q15139		UPI0000456761	NM_002742.2			1/18		PIRSF_domain:PIRSF000552,hmmpanther:PTHR22968,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	64	29927426	29927426	T	G	1	0	0	0	0	0	0	0	1	12651	1567	55	5		5	PRKD1	14	29927426	Silent	SNP	T	C3N-00737_TP		29927426	77116292	132	21268											
STRN3	0	.	GRCh38	chr14	30905540	30905540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagcctataaagtcaactGatgtaggtattccatgctct	12	12	7	10	0	2	1	1	1	1	0	3	1	3	1	2	1	3	3	2	1	6	5	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.1907C>T	p.Ser636Leu	p.S636L	ENST00000357479	15/18	379	224	155	309	309	0	strelka-varscan-mutect	STRN3,missense_variant,p.Ser552Leu,ENST00000355683,NM_014574.3;STRN3,missense_variant,p.Ser636Leu,ENST00000357479,NM_001083893.1;STRN3,3_prime_UTR_variant,,ENST00000555358,;STRN3,non_coding_transcript_exon_variant,,ENST00000554124,;	A	ENST00000357479	Transcript	missense_variant	2104/2799	1907/2394	636/797	S/L	tCa/tTa		1		-1	STRN3	HGNC	HGNC:15720	protein_coding	YES	CCDS41938.1	ENSP00000350071	Q13033		UPI0000F734B1	NM_001083893.1	deleterious(0)		15/18		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF3,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	64	30905540	30905540	G	A	1	0	0	0	0	1	0	0	0	15713	1294	45	3		3	STRN3	14	30905540	Missense_Mutation	SNP	G	C3N-00737_TP	978114	30905540	76138178	133	21269											
RTN1	0	.	GRCh38	chr14	59746198	59746198	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatcttgttcacttccgtGgactctgcaggagtcatctc	8	13	9	11	1	5	1	2	0	3	1	7	3	6	3	1	2	1	2	1	2	1	3	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.525C>G	p.=	p.S175S	ENST00000267484	2/9	117	84	33	122	122	0	strelka-varscan-mutect	RTN1,synonymous_variant,p.=,ENST00000267484,NM_021136.2;RTN1,synonymous_variant,p.=,ENST00000611068,;	C	ENST00000267484	Transcript	synonymous_variant	861/3435	525/2331	175/776	S	tcC/tcG		1		-1	RTN1	HGNC	HGNC:10467	protein_coding	YES	CCDS9740.1	ENSP00000267484	Q16799		UPI00001352DA	NM_021136.2			2/9		hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	64	59746198	59746198	G	C	1	0	0	0	0	0	0	0	1	13985	1335	47	4		4	RTN1	14	59746198	Silent	SNP	G	C3N-00737_TP	28840658	59746198	47297520	134	21270											
HERC2	0	.	GRCh38	chr15	28274412	28274412	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgcagggcgtccagggactCctgcaacagctcactgcaga	9	6	12	14	2	1	1	1	0	0	1	4	2	3	2	2	2	4	4	2	2	1	0	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.679G>T	p.Glu227Ter	p.E227*	ENST00000261609	7/93	144	121	23	122	122	0	strelka-varscan-mutect	HERC2,stop_gained,p.Glu227Ter,ENST00000261609,NM_004667.5;HERC2,3_prime_UTR_variant,,ENST00000564734,;HERC2,upstream_gene_variant,,ENST00000563670,;	A	ENST00000261609	Transcript	stop_gained	788/15337	679/14505	227/4834	E/*	Gag/Tag		1		-1	HERC2	HGNC	HGNC:4868	protein_coding	YES	CCDS10021.1	ENSP00000261609	O95714		UPI00004578F7	NM_004667.5			7/93		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF325																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	64	28274412	28274412	C	A	1	0	0	0	0	0	1	0	0	6942	864	30	2		2	HERC2	15	28274412	Nonsense_Mutation	SNP	C	C3N-00737_TP		28274412	73716777	135	21271											
MAPKBP1	0	.	GRCh38	chr15	41813641	41813641	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accacagtggcccactgcatCtctgtgagccaagactacat	11	8	8	14	0	1	2	0	1	1	1	2	2	1	2	3	1	3	1	3	1	2	1	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.858C>G	p.Ile286Met	p.I286M	ENST00000456763	10/32	198	171	27	163	163	0	strelka-varscan-mutect	MAPKBP1,missense_variant,p.Ile280Met,ENST00000457542,NM_014994.2;MAPKBP1,missense_variant,p.Ile286Met,ENST00000456763,NM_001128608.1;MAPKBP1,missense_variant,p.Ile280Met,ENST00000514566,NM_001265611.1;MAPKBP1,downstream_gene_variant,,ENST00000510535,;MAPKBP1,downstream_gene_variant,,ENST00000627631,;MAPKBP1,downstream_gene_variant,,ENST00000507762,;MAPKBP1,missense_variant,p.Ile280Met,ENST00000512970,;MAPKBP1,3_prime_UTR_variant,,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000502292,;MAPKBP1,downstream_gene_variant,,ENST00000515164,;MAPKBP1,upstream_gene_variant,,ENST00000503526,;MAPKBP1,downstream_gene_variant,,ENST00000507147,;	G	ENST00000456763	Transcript	missense_variant	1054/7158	858/4545	286/1514	I/M	atC/atG		1		1	MAPKBP1	HGNC	HGNC:29536	protein_coding	YES	CCDS45239.1	ENSP00000393099	O60336		UPI00002375CB	NM_001128608.1	deleterious(0.01)		10/32		hmmpanther:PTHR22847:SF432,hmmpanther:PTHR22847,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	41813641	41813641	C	G	1	0	0	0	0	1	0	0	0	9216	903	32	4		4	MAPKBP1	15	41813641	Missense_Mutation	SNP	C	C3N-00737_TP	13539229	41813641	60177548	136	21272											
MAPKBP1	0	.	GRCh38	chr15	41813706	41813706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtgcgccttttcaacccctCtaacctgcacttccttagca	7	12	5	17	2	2	0	1	0	1	0	3	0	3	0	5	0	5	2	5	0	3	5	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.923C>G	p.Ser308Cys	p.S308C	ENST00000456763	10/32	151	132	19	141	141	0	strelka-varscan-mutect	MAPKBP1,missense_variant,p.Ser302Cys,ENST00000457542,NM_014994.2;MAPKBP1,missense_variant,p.Ser308Cys,ENST00000456763,NM_001128608.1;MAPKBP1,missense_variant,p.Ser302Cys,ENST00000514566,NM_001265611.1;MAPKBP1,downstream_gene_variant,,ENST00000510535,;MAPKBP1,downstream_gene_variant,,ENST00000627631,;MAPKBP1,downstream_gene_variant,,ENST00000507762,;MAPKBP1,missense_variant,p.Ser302Cys,ENST00000512970,;MAPKBP1,3_prime_UTR_variant,,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000502292,;MAPKBP1,downstream_gene_variant,,ENST00000515164,;MAPKBP1,upstream_gene_variant,,ENST00000503526,;MAPKBP1,downstream_gene_variant,,ENST00000507147,;	G	ENST00000456763	Transcript	missense_variant	1119/7158	923/4545	308/1514	S/C	tCt/tGt		1		1	MAPKBP1	HGNC	HGNC:29536	protein_coding	YES	CCDS45239.1	ENSP00000393099	O60336		UPI00002375CB	NM_001128608.1	tolerated(0.19)		10/32		hmmpanther:PTHR22847:SF432,hmmpanther:PTHR22847,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	64	41813706	41813706	C	G	1	0	0	0	0	1	0	0	0	9216	913	32	4		4	MAPKBP1	15	41813706	Missense_Mutation	SNP	C	C3N-00737_TP	65	41813706	60177483	137	21273											
CILP	0	.	GRCh38	chr15	65198482	65198482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaactcctggatggaatctCcagttcagccatggggtctt	9	11	11	10	0	3	0	1	0	2	0	5	3	4	2	3	4	2	1	3	4	2	2	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.1804G>A	p.Glu602Lys	p.E602K	ENST00000261883	9/9	311	248	63	273	273	0	strelka-varscan-mutect	CILP,missense_variant,p.Glu602Lys,ENST00000261883,NM_003613.3;	T	ENST00000261883	Transcript	missense_variant	1971/5695	1804/3555	602/1184	E/K	Gag/Aag		1		-1	CILP	HGNC	HGNC:1980	protein_coding	YES	CCDS10203.1	ENSP00000261883	O75339		UPI000013D21B	NM_003613.3	tolerated(0.18)		9/9		hmmpanther:PTHR15031																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	65198482	65198482	C	T	1	0	0	0	0	1	0	0	0	3191	864	30	3		3	CILP	15	65198482	Missense_Mutation	SNP	C	C3N-00737_TP	23384776	65198482	36792707	138	21274											
SMAD3	0	.	GRCh38	chr15	67138083	67138083	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagctctggtacaccggaaAgcatggtggatggggaggta	10	7	17	7	1	1	0	0	0	1	0	1	3	1	3	1	7	3	5	1	7	3	2	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.57A>G	p.=	p.K19K	ENST00000439724	1/9	260	233	27	200	200	0	strelka-varscan-mutect	SMAD3,synonymous_variant,p.=,ENST00000439724,NM_001145103.1;SMAD3,intron_variant,,ENST00000327367,NM_005902.3;SMAD3,intron_variant,,ENST00000540846,NM_001145102.1;SMAD3,intron_variant,,ENST00000558894,;SMAD3,intron_variant,,ENST00000559092,;SMAD3,intron_variant,,ENST00000559460,;SMAD3,intron_variant,,ENST00000560175,;SMAD3,upstream_gene_variant,,ENST00000558739,;RP11-342M21.2,downstream_gene_variant,,ENST00000558463,;SMAD3,intron_variant,,ENST00000559937,;	G	ENST00000439724	Transcript	synonymous_variant	83/1530	57/1146	19/381	K	aaA/aaG		1		1	SMAD3	HGNC	HGNC:6769	protein_coding		CCDS45288.1	ENSP00000401133	P84022		UPI0001915047	NM_001145103.1			1/9		PROSITE_profiles:PS51075,SMART_domains:SM00523																	LOW		SNV	1			1										PASS		.	.												G	2	3	64	67138083	67138083	A	G	1	0	0	0	0	0	0	0	1	15052	69	3	5		5	SMAD3	15	67138083	Silent	SNP	A	C3N-00737_TP	1939601	67138083	34853106	139	21275											
UACA	0	.	GRCh38	chr15	70668887	70668887	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttcttctctcgctccatTtcacacatactaagttcctt	7	17	2	15	1	3	0	1	0	2	0	7	0	5	0	3	0	1	2	3	0	2	7	novel		C3N-00737_TP	C3N-00737_NB	T	T																c.1797A>G	p.=	p.E599E	ENST00000322954	16/19	233	187	46	242	241	1	strelka-varscan-mutect	UACA,synonymous_variant,p.=,ENST00000322954,NM_018003.2;UACA,synonymous_variant,p.=,ENST00000379983,NM_001008224.1;UACA,synonymous_variant,p.=,ENST00000560441,;UACA,synonymous_variant,p.=,ENST00000539319,;UACA,downstream_gene_variant,,ENST00000558758,;UACA,upstream_gene_variant,,ENST00000560831,;UACA,downstream_gene_variant,,ENST00000559290,;UACA,downstream_gene_variant,,ENST00000560523,;UACA,downstream_gene_variant,,ENST00000558308,;	C	ENST00000322954	Transcript	synonymous_variant	1983/6939	1797/4251	599/1416	E	gaA/gaG		1		-1	UACA	HGNC	HGNC:15947	protein_coding	YES	CCDS10235.1	ENSP00000314556	Q9BZF9		UPI000006DCF3	NM_018003.2			16/19		hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF23																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	64	70668887	70668887	T	C	1	0	0	0	0	0	0	0	1	17343	1838	64	5		5	UACA	15	70668887	Silent	SNP	T	C3N-00737_TP	3530804	70668887	31322302	140	21276											
PEAK1	0	.	GRCh38	chr15	77179964	77179964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tattacacttgtggttttttCcttcactgagagttctccac	7	18	6	10	0	2	1	1	1	1	1	4	2	3	1	2	1	1	2	2	1	2	8			C3N-00737_TP	C3N-00737_NB	C	C																c.1963G>A	p.Glu655Lys	p.E655K	ENST00000560626	4/7	339	305	34	389	388	1	strelka-varscan-mutect	PEAK1,missense_variant,p.Glu655Lys,ENST00000560626,;PEAK1,missense_variant,p.Glu655Lys,ENST00000312493,NM_024776.3;PEAK1,missense_variant,p.Glu655Lys,ENST00000558305,;PEAK1,missense_variant,p.Glu655Lys,ENST00000564328,;PEAK1,downstream_gene_variant,,ENST00000565820,;PEAK1,upstream_gene_variant,,ENST00000559791,;PEAK1,downstream_gene_variant,,ENST00000567808,;PEAK1,upstream_gene_variant,,ENST00000560854,;	T	ENST00000560626	Transcript	missense_variant	2439/19217	1963/5241	655/1746	E/K	Gaa/Aaa	COSM1374715,COSM1374716	1		-1	PEAK1	HGNC	HGNC:29431	protein_coding	YES	CCDS42062.1	ENSP00000452796	Q9H792		UPI00002378D0		tolerated(0.32)		4/7		hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	64	77179964	77179964	C	T	1	0	0	0	0	1	0	0	0	11800	864	30	3		3	PEAK1	15	77179964	Missense_Mutation	SNP	C	C3N-00737_TP	6511077	77179964	24811225	141	21277											
BNC1	0	.	GRCh38	chr15	83264609	83264609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagtggggaggctagaactCctgtgactgcagctctcgat	8	9	15	9	1	1	2	0	1	1	1	3	5	2	4	1	4	3	3	1	4	2	1	rs772576851		C3N-00737_TP	C3N-00737_NB	C	C																c.642G>T	p.Arg214Ser	p.R214S	ENST00000345382	4/5	218	170	48	236	235	1	strelka-varscan-mutect	BNC1,missense_variant,p.Arg214Ser,ENST00000345382,NM_001717.3;BNC1,missense_variant,p.Arg207Ser,ENST00000569704,NM_001301206.1;RP11-382A20.4,intron_variant,,ENST00000565495,;	A	ENST00000345382	Transcript	missense_variant	728/4610	642/2985	214/994	R/S	agG/agT	rs772576851,COSM5522197	1		-1	BNC1	HGNC	HGNC:1081	protein_coding	YES	CCDS10324.1	ENSP00000307041	Q01954		UPI0000126796	NM_001717.3	deleterious(0.02)		4/5		hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs772576851	.												A	3	1	64	83264609	83264609	C	A	1	0	0	0	0	1	0	0	0	1630	854	30	2		2	BNC1	15	83264609	Missense_Mutation	SNP	C	C3N-00737_TP	6084645	83264609	18726580	142	21278											
IQGAP1	0	.	GRCh38	chr15	90477217	90477217	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctttaagacagcactcCaagaggaaatcaagtatgaa	16	8	9	8	0	2	3	1	1	1	2	3	4	3	4	1	2	1	3	1	2	6	3	rs371671746		C3N-00737_TP	C3N-00737_NB	C	C																c.3091C>T	p.Gln1031Ter	p.Q1031*	ENST00000268182	25/38	163	145	18	158	158	0	strelka-varscan-mutect	IQGAP1,stop_gained,p.Gln1031Ter,ENST00000268182,NM_003870.3;IQGAP1,stop_gained,p.Gln459Ter,ENST00000560738,;IQGAP1,downstream_gene_variant,,ENST00000560373,;IQGAP1,downstream_gene_variant,,ENST00000560020,;IQGAP1,stop_gained,p.Gln1031Ter,ENST00000633485,;IQGAP1,downstream_gene_variant,,ENST00000558003,;IQGAP1,downstream_gene_variant,,ENST00000560733,;	T	ENST00000268182	Transcript	stop_gained	3215/7233	3091/4974	1031/1657	Q/*	Caa/Taa	rs371671746,COSM1254909	1		1	IQGAP1	HGNC	HGNC:6110	protein_coding	YES	CCDS10362.1	ENSP00000268182	P46940	A0A024RC65	UPI000012D863	NM_003870.3			25/38		PROSITE_profiles:PS50018,hmmpanther:PTHR14149:SF15,hmmpanther:PTHR14149,Gene3D:1.10.506.10,Pfam_domain:PF00616,SMART_domains:SM00323,Superfamily_domains:SSF48350											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs371671746	.												T	4	4	64	90477217	90477217	C	T	1	0	0	0	0	0	1	0	0	7720	595	21	3		3	IQGAP1	15	90477217	Nonsense_Mutation	SNP	C	C3N-00737_TP	7212608	90477217	11513972	143	21279											
ITPRIPL2	0	.	GRCh38	chr16	19115580	19115580	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctccaggtgcctgctacctCaagtgcctgcagttgcttaa	7	11	10	13	0	1	0	1	0	0	0	2	0	2	0	4	1	6	5	4	1	3	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.1119C>G	p.=	p.L373L	ENST00000381440	1/1	76	59	17	110	110	0	strelka-varscan-mutect	ITPRIPL2,synonymous_variant,p.=,ENST00000381440,NM_001034841.3;ITPRIPL2,3_prime_UTR_variant,,ENST00000566735,;RP11-626G11.6,upstream_gene_variant,,ENST00000617407,;RP11-626G11.3,downstream_gene_variant,,ENST00000567236,;CTD-2349B8.1,intron_variant,,ENST00000564808,;CTD-2349B8.1,intron_variant,,ENST00000568526,;	G	ENST00000381440	Transcript	synonymous_variant	1198/7247	1119/1608	373/535	L	ctC/ctG		1		1	ITPRIPL2	HGNC	HGNC:27257	protein_coding	YES	CCDS32395.1	ENSP00000370849	Q3MIP1		UPI000023760C	NM_001034841.3			1/1		Pfam_domain:PF03281,Prints_domain:PR02107,hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF9,SMART_domains:SM01265																	LOW		SNV				1										PASS		rs1056011073	.												G	2	3	64	19115580	19115580	C	G	1	0	0	0	0	0	0	0	1	7831	813	29	4		4	ITPRIPL2	16	19115580	Silent	SNP	C	C3N-00737_TP		19115580	71222765	144	21280											
TNRC6A	0	.	GRCh38	chr16	24777160	24777160	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcagccacaggccttgcctCggtatcctcgtgaagtacct	8	9	10	14	2	0	1	0	1	0	0	3	1	1	1	5	2	4	3	5	2	3	3	rs201072103		C3N-00737_TP	C3N-00737_NB	C	C																c.391C>G	p.Arg131Gly	p.R131G	ENST00000395799	5/25	549	456	93	498	498	0	strelka-varscan-mutect	TNRC6A,missense_variant,p.Arg131Gly,ENST00000395799,NM_014494.2;TNRC6A,missense_variant,p.Arg131Gly,ENST00000315183,;TNRC6A,downstream_gene_variant,,ENST00000562829,;TNRC6A,upstream_gene_variant,,ENST00000491718,;	G	ENST00000395799	Transcript	missense_variant	520/8438	391/5889	131/1962	R/G	Cgg/Ggg	rs201072103,COSM3280413	1		1	TNRC6A	HGNC	HGNC:11969	protein_coding	YES	CCDS10624.2	ENSP00000379144	Q8NDV7		UPI000059D33E	NM_014494.2	deleterious(0)		5/25		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs201072103	.												G	3	3	64	24777160	24777160	C	G	1	0	0	0	0	1	0	0	0	16813	875	31	4		4	TNRC6A	16	24777160	Missense_Mutation	SNP	C	C3N-00737_TP	5661580	24777160	65561185	145	21281											
GTF3C1	0	.	GRCh38	chr16	27492640	27492640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atctttatcctgaaacttttCcgtgggaccaaactgtagca	11	13	7	10	1	1	1	0	1	1	0	3	2	3	2	3	1	3	2	3	1	4	5			C3N-00737_TP	C3N-00737_NB	C	C																c.2950G>A	p.Glu984Lys	p.E984K	ENST00000356183	18/37	272	226	46	224	224	0	strelka-varscan-mutect	GTF3C1,missense_variant,p.Glu984Lys,ENST00000356183,NM_001520.3;GTF3C1,missense_variant,p.Glu984Lys,ENST00000561623,NM_001286242.1;GTF3C1,intron_variant,,ENST00000569653,;GTF3C1,upstream_gene_variant,,ENST00000568569,;GTF3C1,upstream_gene_variant,,ENST00000564664,;	T	ENST00000356183	Transcript	missense_variant	2966/7018	2950/6330	984/2109	E/K	Gaa/Aaa	COSM4541149,COSM702819	1		-1	GTF3C1	HGNC	HGNC:4664	protein_coding	YES	CCDS32414.1	ENSP00000348510	Q12789		UPI00001FF123	NM_001520.3	deleterious(0)		18/37		hmmpanther:PTHR15180,hmmpanther:PTHR15180:SF1											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	64	27492640	27492640	C	T	1	0	0	0	0	1	0	0	0	6753	864	30	3		3	GTF3C1	16	27492640	Missense_Mutation	SNP	C	C3N-00737_TP	2715480	27492640	62845705	146	21282											
RBL2	0	.	GRCh38	chr16	53434675	53434675	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgccgcgccgcctgccgagtCgcccacccctcagatccagc	5	4	10	22	6	1	1	1	0	0	1	3	2	2	1	8	0	2	0	8	0	0	0	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.119C>G	p.Ser40Trp	p.S40W	ENST00000262133	1/22	232	202	30	148	148	0	strelka-varscan-mutect	RBL2,missense_variant,p.Ser40Trp,ENST00000262133,NM_001323611.1,NM_005611.3;RBL2,intron_variant,,ENST00000567964,;RBL2,upstream_gene_variant,,ENST00000544405,;	G	ENST00000262133	Transcript	missense_variant	256/4906	119/3420	40/1139	S/W	tCg/tGg		1		1	RBL2	HGNC	HGNC:9894	protein_coding	YES	CCDS10748.1	ENSP00000262133	Q08999		UPI000013D264	NM_001323611.1,NM_005611.3	deleterious(0.01)		1/22		Low_complexity_(Seg):seg,hmmpanther:PTHR13742:SF8,hmmpanther:PTHR13742																	MODERATE	1	SNV	1			1										PASS		rs1280372152	.												G	3	3	64	53434675	53434675	C	G	1	0	0	0	0	1	0	0	0	13276	893	31	4		4	RBL2	16	53434675	Missense_Mutation	SNP	C	C3N-00737_TP	25942035	53434675	36903670	147	21283			2	18		2	2	12	C		6.802952e-05
RBL2	0	.	GRCh38	chr16	53434686	53434686	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccgagtcgcccacccctCagatccagcagcggttcgac	7	6	10	18	4	1	1	1	0	0	1	4	3	2	1	5	1	3	2	5	1	0	1	rs763967250		C3N-00737_TP	C3N-00737_NB	C	C																c.130C>T	p.Gln44Ter	p.Q44*	ENST00000262133	1/22	249	219	30	158	158	0	strelka-varscan-mutect	RBL2,stop_gained,p.Gln44Ter,ENST00000262133,NM_001323611.1,NM_005611.3;RBL2,intron_variant,,ENST00000567964,;RBL2,upstream_gene_variant,,ENST00000544405,;	T	ENST00000262133	Transcript	stop_gained	267/4906	130/3420	44/1139	Q/*	Cag/Tag	rs763967250	1		1	RBL2	HGNC	HGNC:9894	protein_coding	YES	CCDS10748.1	ENSP00000262133	Q08999		UPI000013D264	NM_001323611.1,NM_005611.3			1/22		hmmpanther:PTHR13742:SF8,hmmpanther:PTHR13742																	HIGH	1	SNV	1			1										PASS		rs763967250	.												T	4	4	64	53434686	53434686	C	T	1	0	0	0	0	0	1	0	0	13276	827	29	3		3	RBL2	16	53434686	Nonsense_Mutation	SNP	C	C3N-00737_TP	11	53434686	36903659	148	21284			2	18		2	2	12	C		6.802952e-05
TP53	0	.	GRCh38	chr17	7675076	7675076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			C3N-00737_TP	C3N-00737_NB	T	T																c.536A>G	p.His179Arg	p.H179R	ENST00000269305	5/11	362	276	86	382	382	0	strelka-varscan-mutect	TP53,missense_variant,p.His179Arg,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.His179Arg,ENST00000420246,;TP53,missense_variant,p.His140Arg,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.His140Arg,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.His179Arg,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.His140Arg,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.His179Arg,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.His140Arg,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.His179Arg,ENST00000445888,;TP53,missense_variant,p.His140Arg,ENST00000619485,;TP53,missense_variant,p.His47Arg,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.His20Arg,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.His47Arg,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.His20Arg,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.His47Arg,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.His20Arg,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.His179Arg,ENST00000359597,;TP53,missense_variant,p.His168Arg,ENST00000615910,;TP53,missense_variant,p.His179Arg,ENST00000413465,;TP53,missense_variant,p.His47Arg,ENST00000509690,;TP53,missense_variant,p.His86Arg,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,missense_variant,p.His140Arg,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	C	ENST00000269305	Transcript	missense_variant	726/2579	536/1182	179/393	H/R	cAt/cGt	TP53_g.12524A>G,TP53_g.12524A>C,TP53_g.12524del,TP53_g.12524A>T,COSM10889,COSM129844,COSM129845,COSM129846,COSM129847,COSM1645241,COSM1731642,COSM214222,COSM214223,COSM214224,COSM214225,COSM3396280,COSM3980298,COSM43635,COSM44218,COSM44627	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		5/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386											0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs1057519991	.												C	3	2	64	7675076	7675076	T	C	1	0	0	0	0	1	0	0	0	16859	1464	51	5		5	TP53	17	7675076	Missense_Mutation	SNP	T	C3N-00737_TP		7675076	75582365	149	21285											
KDM6B	0	.	GRCh38	chr17	7852506	7852506	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgcagcctatcagtacCagctggccctggaacgatac	9	6	11	15	2	1	0	1	0	0	0	1	2	1	1	4	3	5	3	4	3	4	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.4480C>T	p.Gln1494Ter	p.Q1494*	ENST00000254846	20/22	631	595	36	580	580	0	strelka-varscan-mutect	KDM6B,stop_gained,p.Gln1494Ter,ENST00000254846,NM_001080424.1;KDM6B,stop_gained,p.Gln1494Ter,ENST00000448097,;KDM6B,downstream_gene_variant,,ENST00000570632,;NAA38,downstream_gene_variant,,ENST00000333775,NM_032356.3;TMEM88,upstream_gene_variant,,ENST00000301599,NM_203411.1;NAA38,downstream_gene_variant,,ENST00000575771,;NAA38,downstream_gene_variant,,ENST00000576861,;NAA38,downstream_gene_variant,,ENST00000575071,;NAA38,downstream_gene_variant,,ENST00000575208,;TMEM88,upstream_gene_variant,,ENST00000574668,NM_001319941.1;NAA38,downstream_gene_variant,,ENST00000576384,;	T	ENST00000254846	Transcript	stop_gained	4869/6713	4480/5049	1494/1682	Q/*	Cag/Tag		1		1	KDM6B	HGNC	HGNC:29012	protein_coding	YES	CCDS32552.1	ENSP00000254846	O15054		UPI00006C175B	NM_001080424.1			20/22		PROSITE_profiles:PS51184,hmmpanther:PTHR14017:SF5,hmmpanther:PTHR14017,SMART_domains:SM00558,Superfamily_domains:SSF51197																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	64	7852506	7852506	C	T	1	0	0	0	0	0	1	0	0	8056	595	21	3		3	KDM6B	17	7852506	Nonsense_Mutation	SNP	C	C3N-00737_TP	177430	7852506	75404935	150	21286											
KRT38	0	.	GRCh38	chr17	41438147	41438147	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaatctcattctccagcCgggtcttcacgtccagcagc	7	10	9	15	2	4	0	2	0	3	0	7	0	5	0	3	2	3	2	3	2	1	2	rs370561631		C3N-00737_TP	C3N-00737_NB	C	C																c.1187G>C	p.Arg396Pro	p.R396P	ENST00000246646	6/7	217	199	18	219	219	0	strelka-varscan-mutect	KRT38,missense_variant,p.Arg396Pro,ENST00000246646,NM_006771.3;	G	ENST00000246646	Transcript	missense_variant	1187/2337	1187/1371	396/456	R/P	cGg/cCg	rs370561631	1		-1	KRT38	HGNC	HGNC:6456	protein_coding	YES	CCDS11392.1	ENSP00000246646	O76015		UPI000013CBF9	NM_006771.3	deleterious(0)		6/7		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF166,SMART_domains:SM01391,Superfamily_domains:SSF64593																	MODERATE	1	SNV	1			1										PASS		rs370561631	.												G	3	3	64	41438147	41438147	C	G	1	0	0	0	0	1	0	0	0	8357	652	23	4		4	KRT38	17	41438147	Missense_Mutation	SNP	C	C3N-00737_TP	33585641	41438147	41819294	151	21287											
ITGA2B	0	.	GRCh38	chr17	44389455	44389455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagccagagggcttgcagtgGacacaaagctctggccatct	11	7	12	11	0	2	1	0	0	2	1	2	2	2	2	2	3	3	3	2	3	2	1	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.19C>T	p.Pro7Ser	p.P7S	ENST00000262407	1/30	343	281	62	299	299	0	strelka-varscan-mutect	ITGA2B,missense_variant,p.Pro7Ser,ENST00000262407,NM_000419.3;ITGA2B,upstream_gene_variant,,ENST00000592226,;ITGA2B,upstream_gene_variant,,ENST00000589645,;ITGA2B,upstream_gene_variant,,ENST00000591990,;ITGA2B,upstream_gene_variant,,ENST00000592944,;ITGA2B,upstream_gene_variant,,ENST00000592253,;ITGA2B,upstream_gene_variant,,ENST00000592075,;	A	ENST00000262407	Transcript	missense_variant	51/3333	19/3120	7/1039	P/S	Cca/Tca		1		-1	ITGA2B	HGNC	HGNC:6138	protein_coding	YES	CCDS32665.1	ENSP00000262407	P08514		UPI00001868B8	NM_000419.3	tolerated_low_confidence(0.29)		1/30		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23220:SF73,hmmpanther:PTHR23220																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	64	44389455	44389455	G	A	1	0	0	0	0	1	0	0	0	7783	1174	41	3		3	ITGA2B	17	44389455	Missense_Mutation	SNP	G	C3N-00737_TP	2951308	44389455	38867986	152	21288											
CRHR1	0	.	GRCh38	chr17	45830459	45830459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctacaactacttccatGtgaccaacttcttctggatg	9	12	6	14	1	2	1	0	1	2	0	3	2	3	2	4	1	4	0	4	1	4	5	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.73G>T	p.Val25Leu	p.V25L	ENST00000634540	9/15	100	92	8	98	97	1	strelka-varscan-mutect	CRHR1,missense_variant,p.Val25Leu,ENST00000634540,NM_001256299.2,NM_001303018.1;CRHR1,missense_variant,p.Val229Leu,ENST00000293493,;CRHR1,missense_variant,p.Val200Leu,ENST00000314537,NM_004382.4;CRHR1,missense_variant,p.Val99Leu,ENST00000339069,NM_001303016.1,NM_001303020.1;CRHR1,missense_variant,p.Val229Leu,ENST00000398285,NM_001145146.1;CRHR1,missense_variant,p.Cys131Phe,ENST00000619154,;CRHR1,missense_variant,p.Val200Leu,ENST00000577353,NM_001145148.1;CRHR1,missense_variant,p.Val160Leu,ENST00000352855,NM_001145147.1;CRHR1,upstream_gene_variant,,ENST00000580876,;MAPT-AS1,intron_variant,,ENST00000634876,;CRHR1,3_prime_UTR_variant,,ENST00000347197,;CRHR1,non_coding_transcript_exon_variant,,ENST00000582766,;CRHR1,non_coding_transcript_exon_variant,,ENST00000581479,;CRHR1,intron_variant,,ENST00000583888,;CRHR1,upstream_gene_variant,,ENST00000535778,;CRHR1,downstream_gene_variant,,ENST00000580955,;	T	ENST00000634540	Transcript	missense_variant	983/2695	73/723	25/240	V/L	Gtg/Ttg		1		1	CRHR1	EntrezGene	HGNC:2357	protein_coding	YES		ENSP00000488912		A0A024R9X9	UPI0000D4A34F	NM_001256299.2,NM_001303018.1	tolerated(1)		9/15		Pfam_domain:PF00002,Prints_domain:PR00249,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF175,Superfamily_domains:SSF81321																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	64	45830459	45830459	G	T	1	0	0	0	0	1	0	0	0	3672	1377	48	2		2	CRHR1	17	45830459	Missense_Mutation	SNP	G	C3N-00737_TP	1441004	45830459	37426982	153	21289											
SPAG9	0	.	GRCh38	chr17	51041517	51041517	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaccttcaggctggtatgaGaacgtggttgacttaattcc	9	14	10	8	1	1	2	1	2	0	1	2	3	2	2	2	3	2	3	2	3	4	6	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.725C>G	p.Ser242Cys	p.S242C	ENST00000262013	5/30	152	128	24	119	119	0	strelka-varscan-mutect	SPAG9,missense_variant,p.Ser242Cys,ENST00000262013,NM_001130528.2;SPAG9,missense_variant,p.Ser242Cys,ENST00000618113,;SPAG9,missense_variant,p.Ser99Cys,ENST00000510283,NM_001251971.1;SPAG9,missense_variant,p.Ser242Cys,ENST00000357122,NM_003971.5;SPAG9,missense_variant,p.Ser242Cys,ENST00000505279,NM_001130527.2;SPAG9,missense_variant,p.Ser99Cys,ENST00000510855,;RP11-481C4.1,upstream_gene_variant,,ENST00000509833,;SPAG9,upstream_gene_variant,,ENST00000576492,;SPAG9,non_coding_transcript_exon_variant,,ENST00000514613,;SPAG9,non_coding_transcript_exon_variant,,ENST00000505173,;SPAG9,non_coding_transcript_exon_variant,,ENST00000511987,;SPAG9,non_coding_transcript_exon_variant,,ENST00000502329,;	C	ENST00000262013	Transcript	missense_variant	934/8273	725/3966	242/1321	S/C	tCt/tGt		1		-1	SPAG9	HGNC	HGNC:14524	protein_coding	YES	CCDS45740.1	ENSP00000262013	O60271		UPI0000D60DF7	NM_001130528.2	tolerated(0.06)		5/30		hmmpanther:PTHR13886:SF2,hmmpanther:PTHR13886																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	64	51041517	51041517	G	C	1	0	0	0	0	1	0	0	0	15316	942	33	4		4	SPAG9	17	51041517	Missense_Mutation	SNP	G	C3N-00737_TP	5211058	51041517	32215924	154	21290											
BRIP1	0	.	GRCh38	chr17	61801358	61801358	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatggacaggcctttagtttCttccccaggctgacaagttc	8	13	9	11	0	1	1	0	1	1	0	3	2	2	2	3	3	0	3	3	3	3	6	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.1035G>A	p.=	p.K345K	ENST00000259008	8/20	661	586	75	566	566	0	strelka-varscan-mutect	BRIP1,synonymous_variant,p.=,ENST00000259008,NM_032043.2;BRIP1,synonymous_variant,p.=,ENST00000577598,;	T	ENST00000259008	Transcript	synonymous_variant	1303/6048	1035/3750	345/1249	K	aaG/aaA		1		-1	BRIP1	HGNC	HGNC:20473	protein_coding	YES	CCDS11631.1	ENSP00000259008	Q9BX63	A0A024QZ45	UPI000013D01F	NM_032043.2			8/20		PROSITE_profiles:PS51193,hmmpanther:PTHR11472:SF6,hmmpanther:PTHR11472,TIGRFAM_domain:TIGR00604,Pfam_domain:PF06733,SMART_domains:SM00488,SMART_domains:SM00487																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	64	61801358	61801358	C	T	1	0	0	0	0	0	0	0	1	1688	912	32	3		3	BRIP1	17	61801358	Silent	SNP	C	C3N-00737_TP	10759841	61801358	21456083	155	21291											
TRIM47	0	.	GRCh38	chr17	75878418	75878418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcctccgggtccgccggctCcactcgcgccacgatgcggc	3	5	13	20	8	0	0	0	0	0	0	4	1	3	0	6	3	1	1	6	3	0	0	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.131G>A	p.Gly44Glu	p.G44E	ENST00000254816	1/6	88	78	10	47	47	0	strelka-varscan-mutect	TRIM47,missense_variant,p.Gly44Glu,ENST00000254816,NM_033452.2;TRIM65,downstream_gene_variant,,ENST00000591668,;TRIM47,upstream_gene_variant,,ENST00000586495,;TRIM47,upstream_gene_variant,,ENST00000585333,;TRIM65,downstream_gene_variant,,ENST00000592642,;RP11-552F3.9,non_coding_transcript_exon_variant,,ENST00000586076,;TRIM47,upstream_gene_variant,,ENST00000587339,;TRIM47,upstream_gene_variant,,ENST00000592942,;TRIM47,upstream_gene_variant,,ENST00000587774,;TRIM47,upstream_gene_variant,,ENST00000593089,;	T	ENST00000254816	Transcript	missense_variant	158/2266	131/1917	44/638	G/E	gGa/gAa		1		-1	TRIM47	HGNC	HGNC:19020	protein_coding	YES	CCDS32737.1	ENSP00000254816	Q96LD4		UPI000013CE62	NM_033452.2	deleterious(0.03)		1/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF328,Gene3D:3.30.40.10,Pfam_domain:PF15227,SMART_domains:SM00184,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	75878418	75878418	C	T	1	0	0	0	0	1	0	0	0	17012	855	30	3		3	TRIM47	17	75878418	Missense_Mutation	SNP	C	C3N-00737_TP	14077060	75878418	7379023	156	21292											
PIEZO2	0	.	GRCh38	chr18	10691277	10691277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcttggtgaggaagttccCcaggactcgcgttgggtagc	6	10	15	10	2	1	1	0	1	1	0	3	3	2	3	2	4	1	4	2	4	2	4	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.6958G>A	p.Gly2320Arg	p.G2320R	ENST00000503781	44/52	262	247	15	197	197	0	strelka-varscan-mutect	PIEZO2,missense_variant,p.Gly2271Arg,ENST00000383408,;PIEZO2,missense_variant,p.Gly2320Arg,ENST00000302079,;PIEZO2,missense_variant,p.Gly2345Arg,ENST00000580640,;PIEZO2,missense_variant,p.Gly2320Arg,ENST00000503781,NM_022068.3;PIEZO2,missense_variant,p.Gly277Arg,ENST00000538948,;PIEZO2,3_prime_UTR_variant,,ENST00000582913,;	T	ENST00000503781	Transcript	missense_variant	6958/8259	6958/8259	2320/2752	G/R	Ggg/Agg		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3	deleterious(0)		44/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	10691277	10691277	C	T	1	0	0	0	0	1	0	0	0	11975	623	22	3		3	PIEZO2	18	10691277	Missense_Mutation	SNP	C	C3N-00737_TP		10691277	69682008	157	21293											
TRAPPC8	0	.	GRCh38	chr18	31916279	31916279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataaaaacttacctctgttCatctcctgcacttacatcat	13	14	2	12	0	4	0	2	0	2	0	5	0	4	0	2	0	4	2	2	0	6	4	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.610G>A	p.Glu204Lys	p.E204K	ENST00000283351	4/29	90	85	5	113	113	0	varscan-mutect	TRAPPC8,missense_variant,p.Glu204Lys,ENST00000283351,NM_014939.3;TRAPPC8,missense_variant,p.Glu150Lys,ENST00000582539,;TRAPPC8,missense_variant,p.Glu204Lys,ENST00000582513,;TRAPPC8,missense_variant,p.Glu179Lys,ENST00000578658,;TRAPPC8,missense_variant,p.Glu204Lys,ENST00000580104,;	T	ENST00000283351	Transcript	missense_variant	946/6226	610/4308	204/1435	E/K	Gaa/Aaa		1		-1	TRAPPC8	HGNC	HGNC:29169	protein_coding	YES	CCDS11901.1	ENSP00000283351	Q9Y2L5		UPI0000052E22	NM_014939.3	deleterious(0.01)		4/29		hmmpanther:PTHR12975:SF6,hmmpanther:PTHR12975,Pfam_domain:PF12739																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	31916279	31916279	C	T	1	0	0	0	0	1	0	0	0	16953	835	29	3		3	TRAPPC8	18	31916279	Missense_Mutation	SNP	C	C3N-00737_TP	21225002	31916279	48457006	158	21294											
ASXL3	0	.	GRCh38	chr18	33738812	33738812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaatgccaggatgaaaatCataagacaatacctgaattt	17	10	8	6	0	1	4	1	3	0	1	1	5	1	5	2	1	2	0	2	1	7	3	rs866757981		C3N-00737_TP	C3N-00737_NB	C	C																c.1408C>T	p.His470Tyr	p.H470Y	ENST00000269197	11/12	267	241	26	272	272	0	strelka-varscan-mutect	ASXL3,missense_variant,p.His470Tyr,ENST00000269197,NM_030632.1;ASXL3,3_prime_UTR_variant,,ENST00000592288,;	T	ENST00000269197	Transcript	missense_variant	1463/11399	1408/6747	470/2248	H/Y	Cat/Tat	rs866757981,COSM3525421,COSM3525422	1		1	ASXL3	HGNC	HGNC:29357	protein_coding	YES	CCDS45847.1	ENSP00000269197	Q9C0F0		UPI000156D0F3	NM_030632.1	tolerated_low_confidence(0.06)		11/12		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs866757981	.												T	3	4	64	33738812	33738812	C	T	1	0	0	0	0	1	0	0	0	1216	826	29	3		3	ASXL3	18	33738812	Missense_Mutation	SNP	C	C3N-00737_TP	1822533	33738812	46634473	159	21295											
LOXHD1	0	.	GRCh38	chr18	46485084	46485084	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatcggttcttcctgccCtccaggatgagccagacgtt	6	12	11	12	2	1	2	0	1	1	1	4	4	3	4	4	3	2	2	4	3	0	4	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.2784G>T	p.Glu928Asp	p.E928D	ENST00000300591	21/24	130	117	13	150	150	0	strelka-varscan-mutect	LOXHD1,missense_variant,p.Glu1977Asp,ENST00000536736,NM_144612.6;LOXHD1,missense_variant,p.Glu1833Asp,ENST00000441551,;LOXHD1,missense_variant,p.Glu928Asp,ENST00000300591,NM_001145472.2;LOXHD1,missense_variant,p.Glu866Asp,ENST00000582408,;LOXHD1,missense_variant,p.Glu832Asp,ENST00000579038,NM_001308013.1;LOXHD1,missense_variant,p.Glu278Asp,ENST00000398686,NM_001145473.2;LOXHD1,missense_variant,p.Glu278Asp,ENST00000398705,NM_001173129.1;	A	ENST00000300591	Transcript	missense_variant	3198/3970	2784/3345	928/1114	E/D	gaG/gaT		1		-1	LOXHD1	HGNC	HGNC:26521	protein_coding	YES	CCDS45861.1	ENSP00000300591	Q8IVV2		UPI0000456B8D	NM_001145472.2	tolerated(0.12)		21/24		Gene3D:2.60.60.20,Pfam_domain:PF01477,PROSITE_profiles:PS50095,Superfamily_domains:SSF49723																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	64	46485084	46485084	C	A	1	0	0	0	0	1	0	0	0	8801	680	24	2		2	LOXHD1	18	46485084	Missense_Mutation	SNP	C	C3N-00737_TP	12746272	46485084	33888201	160	21296											
VPS4B	0	.	GRCh38	chr18	63397254	63397254	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tataaattcgtttctcaaatCttaaaagagaaattacatca	18	14	3	6	1	3	1	2	0	2	1	5	2	3	1	0	0	1	1	0	0	8	6	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.873-1G>C		p.X291_splice	ENST00000238497		92	80	12	111	111	0	strelka-varscan-mutect	VPS4B,splice_acceptor_variant,,ENST00000238497,NM_004869.3;VPS4B,downstream_gene_variant,,ENST00000591383,;VPS4B,upstream_gene_variant,,ENST00000588323,;VPS4B,splice_acceptor_variant,,ENST00000591475,;VPS4B,splice_acceptor_variant,,ENST00000589604,;VPS4B,splice_acceptor_variant,,ENST00000588059,;	G	ENST00000238497	Transcript	splice_acceptor_variant	-/3324	873/1335	291/444				1		-1	VPS4B	HGNC	HGNC:10895	protein_coding	YES	CCDS11983.1	ENSP00000238497	O75351	A0A024R2C5	UPI0000073CAF	NM_004869.3				8/10																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	64	63397254	63397254	C	G	1	0	0	0	0	0	0	1	0	17759	927	32	4		4	VPS4B	18	63397254	Splice_Site	SNP	C	C3N-00737_TP	16912170	63397254	16976031	161	21297											
OR7D4	0	.	GRCh38	chr19	9214759	9214759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggaacagcccaaagaGgacgggctgcagttcaggat	13	4	15	9	1	1	1	1	0	0	1	1	5	1	5	1	5	3	3	1	5	2	1	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.79C>T	p.Leu27Phe	p.L27F	ENST00000308682	1/1	179	137	42	188	188	0	strelka-varscan-mutect	OR7D4,missense_variant,p.Leu27Phe,ENST00000308682,NM_001005191.2;	A	ENST00000308682	Transcript	missense_variant	113/1022	79/939	27/312	L/F	Ctc/Ttc		1		-1	OR7D4	HGNC	HGNC:8380	protein_coding	YES	CCDS32901.1	ENSP00000310488	Q8NG98	A0A126GVR1	UPI00000472B5	NM_001005191.2	tolerated(0.1)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF371,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	64	9214759	9214759	G	A	1	0	0	0	0	1	0	0	0	11290	1000	35	3		3	OR7D4	19	9214759	Missense_Mutation	SNP	G	C3N-00737_TP		9214759	49402857	162	21298											
IL27RA	0	.	GRCh38	chr19	14039506	14039506	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccgcctctctcctcacAgccgttccaacaaaacccag	10	7	4	20	2	2	0	1	0	1	0	6	0	5	0	7	0	3	1	7	0	3	1	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.219-2A>T		p.X73_splice	ENST00000263379		55	40	15	79	79	0	strelka-varscan-mutect	IL27RA,splice_acceptor_variant,,ENST00000263379,NM_004843.3;	T	ENST00000263379	Transcript	splice_acceptor_variant	-/2962	219/1911	73/636				1		1	IL27RA	HGNC	HGNC:17290	protein_coding	YES	CCDS12303.1	ENSP00000263379	Q6UWB1		UPI0000039E1F	NM_004843.3				2/13																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	64	14039506	14039506	A	T	1	0	0	0	0	0	0	1	0	7584	202	7	4		4	IL27RA	19	14039506	Splice_Site	SNP	A	C3N-00737_TP	4824747	14039506	44578110	163	21299											
SLC35E1	0	.	GRCh38	chr19	16553793	16553793	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtccccgtgctgggggaaGaggaggccgttgtggggctt	5	9	19	8	2	0	1	0	0	0	1	1	3	1	3	3	6	1	3	3	6	2	3	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.1119C>G	p.=	p.L373L	ENST00000595753	6/6	103	96	7	98	98	0	strelka-varscan-mutect	SLC35E1,synonymous_variant,p.=,ENST00000595753,NM_024881.4;SLC35E1,synonymous_variant,p.=,ENST00000436553,;SLC35E1,downstream_gene_variant,,ENST00000421082,;CTD-3222D19.11,downstream_gene_variant,,ENST00000597357,;SLC35E1,non_coding_transcript_exon_variant,,ENST00000600356,;SLC35E1,upstream_gene_variant,,ENST00000593812,;SLC35E1,downstream_gene_variant,,ENST00000470077,;SLC35E1,upstream_gene_variant,,ENST00000596387,;SLC35E1,3_prime_UTR_variant,,ENST00000409648,;CTD-3222D19.2,3_prime_UTR_variant,,ENST00000409035,;SLC35E1,downstream_gene_variant,,ENST00000469055,;	C	ENST00000595753	Transcript	synonymous_variant	1137/5099	1119/1233	373/410	L	ctC/ctG		1		-1	SLC35E1	HGNC	HGNC:20803	protein_coding	YES	CCDS12346.2	ENSP00000470652	Q96K37	A0A024R7G7	UPI000004D338	NM_024881.4			6/6		hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF54																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	64	16553793	16553793	G	C	1	0	0	0	0	0	0	0	1	14854	929	33	4		4	SLC35E1	19	16553793	Silent	SNP	G	C3N-00737_TP	2514287	16553793	42063823	164	21300											
JAK3	0	.	GRCh38	chr19	17831377	17831377	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtcgcggtgcacgcagcgGcgggagcccaggtactccat	7	5	16	13	5	0	0	0	0	0	0	2	1	1	1	2	5	4	3	2	5	1	1	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.2829C>T	p.=	p.R943R	ENST00000458235	21/24	225	200	25	189	189	0	strelka-varscan-mutect	JAK3,synonymous_variant,p.=,ENST00000458235,NM_000215.3;JAK3,synonymous_variant,p.=,ENST00000527670,;JAK3,synonymous_variant,p.=,ENST00000534444,;JAK3,intron_variant,,ENST00000527031,;	A	ENST00000458235	Transcript	synonymous_variant	2929/5432	2829/3375	943/1124	R	cgC/cgT		1		-1	JAK3	HGNC	HGNC:6193	protein_coding	YES	CCDS12366.1	ENSP00000391676	P52333	A0A024R7M7	UPI0000071146	NM_000215.3			21/24		PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF233,hmmpanther:PTHR24418,PIRSF_domain:PIRSF000636,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109																	LOW	1	SNV	5			1										PASS		rs1315172619	.												A	2	1	64	17831377	17831377	G	A	1	0	0	0	0	0	0	0	1	7852	1190	42	3		3	JAK3	19	17831377	Silent	SNP	G	C3N-00737_TP	1277584	17831377	40786239	165	21301											
DPY19L3	0	.	GRCh38	chr19	32439876	32439876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcattagtgctgttcaCactggactccctggacatgc	9	10	10	12	0	1	0	1	0	0	0	2	2	2	2	1	2	3	4	1	2	2	2	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.821C>T	p.Thr274Ile	p.T274I	ENST00000342179	8/19	361	277	84	298	297	1	strelka-varscan-mutect	DPY19L3,missense_variant,p.Thr274Ile,ENST00000342179,NM_207325.2;DPY19L3,missense_variant,p.Thr274Ile,ENST00000392250,NM_001172774.1;DPY19L3,missense_variant,p.Thr274Ile,ENST00000586987,;DPY19L3,downstream_gene_variant,,ENST00000586427,;DPY19L3,missense_variant,p.Thr41Ile,ENST00000588648,;DPY19L3,non_coding_transcript_exon_variant,,ENST00000585597,;	T	ENST00000342179	Transcript	missense_variant	1036/6015	821/2151	274/716	T/I	aCa/aTa		1		1	DPY19L3	HGNC	HGNC:27120	protein_coding	YES	CCDS12422.1	ENSP00000344937	Q6ZPD9		UPI00001C10BE	NM_207325.2	tolerated(0.48)		8/19		Transmembrane_helices:TMhelix,hmmpanther:PTHR31488:SF4,hmmpanther:PTHR31488,Pfam_domain:PF10034																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	64	32439876	32439876	C	T	1	0	0	0	0	1	0	0	0	4557	478	17	3		3	DPY19L3	19	32439876	Missense_Mutation	SNP	C	C3N-00737_TP	14608499	32439876	26177740	166	21302											
SELV	0	.	GRCh38	chr19	39515444	39515444	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctggtccccactcccgctCtggcccggatcccccgtctg	2	9	9	21	3	3	0	0	0	3	0	6	1	6	1	6	3	0	1	6	3	0	0	rs375570045		C3N-00737_TP	C3N-00737_NB	C	C																c.232C>G	p.Leu78Val	p.L78V	ENST00000335426	1/6	502	433	69	489	489	0	strelka-varscan-mutect	SELV,missense_variant,p.Leu78Val,ENST00000335426,NM_182704.1;SELV,missense_variant,p.Leu78Val,ENST00000622070,;SELV,missense_variant,p.Leu78Val,ENST00000423711,;SELV,upstream_gene_variant,,ENST00000597876,;SELV,upstream_gene_variant,,ENST00000600586,;	G	ENST00000335426	Transcript	missense_variant	332/1704	232/1041	78/346	L/V	Ctg/Gtg	rs375570045,COSM1742013	1		1	SELV	EntrezGene		protein_coding	YES	CCDS54266.1	ENSP00000333956			UPI00001B2974	NM_182704.1	tolerated(0.44)		1/6		Low_complexity_(Seg):seg,hmmpanther:PTHR15124,hmmpanther:PTHR15124:SF17,Prints_domain:PR01217											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs375570045	.												G	3	3	64	39515444	39515444	C	G	1	0	0	0	0	1	0	0	0	14299	912	32	4		4	SELV	19	39515444	Missense_Mutation	SNP	C	C3N-00737_TP	7075568	39515444	19102172	167	21303											
C19orf47	0	.	GRCh38	chr19	40336137	40336137	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaccactttggcatgcttGagaatggcgatgatgtcacc	9	11	11	10	1	1	2	1	2	0	1	1	4	1	2	2	2	2	3	2	2	1	2	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.306C>G	p.=	p.L102L	ENST00000582783	4/9	283	247	36	274	274	0	strelka-varscan-mutect	C19orf47,synonymous_variant,p.=,ENST00000582783,NM_001256441.1,NM_001256440.1;C19orf47,synonymous_variant,p.=,ENST00000392035,;C19orf47,synonymous_variant,p.=,ENST00000580606,;C19orf47,synonymous_variant,p.=,ENST00000582006,;Y_RNA,downstream_gene_variant,,ENST00000384551,;C19orf47,synonymous_variant,p.=,ENST00000357884,;C19orf47,synonymous_variant,p.=,ENST00000580977,;	C	ENST00000582783	Transcript	synonymous_variant	319/3628	306/1269	102/422	L	ctC/ctG		1		-1	C19orf47	HGNC	HGNC:26723	protein_coding	YES	CCDS58662.1	ENSP00000463159	Q8N9M1		UPI000006FE9B	NM_001256441.1,NM_001256440.1			4/9		hmmpanther:PTHR21359,hmmpanther:PTHR21359:SF1,Gene3D:1.10.150.50,Superfamily_domains:SSF47769																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	64	40336137	40336137	G	C	1	0	0	0	0	0	0	0	1	1913	1277	45	4		4	C19orf47	19	40336137	Silent	SNP	G	C3N-00737_TP	820693	40336137	18281479	168	21304											
FBXO46	0	.	GRCh38	chr19	45712912	45712912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaagactacaggcgctgggGtggtcggtcgtgggtagctc	7	8	17	9	3	0	1	0	0	0	1	3	1	0	1	0	6	2	3	0	6	3	2	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.584C>T	p.Thr195Ile	p.T195I	ENST00000317683	2/2	103	91	12	94	94	0	strelka-varscan-mutect	FBXO46,missense_variant,p.Thr195Ile,ENST00000317683,NM_001080469.1;FBXO46,downstream_gene_variant,,ENST00000586899,;FBXO46,downstream_gene_variant,,ENST00000591686,;AC007191.4,downstream_gene_variant,,ENST00000623179,;	A	ENST00000317683	Transcript	missense_variant	718/3001	584/1812	195/603	T/I	aCc/aTc		1		-1	FBXO46	HGNC	HGNC:25069	protein_coding	YES	CCDS46116.1	ENSP00000410007	Q6PJ61		UPI00002026A5	NM_001080469.1	tolerated(0.09)		2/2		hmmpanther:PTHR16271,hmmpanther:PTHR16271:SF10																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	64	45712912	45712912	G	A	1	0	0	0	0	1	0	0	0	5618	1261	44	3		3	FBXO46	19	45712912	Missense_Mutation	SNP	G	C3N-00737_TP	5376775	45712912	12904704	169	21305											
DBP	0	.	GRCh38	chr19	48636980	48636980	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccggggtcctgtcgctCacaggccgcgccatcgcctg	3	6	16	16	5	1	0	1	0	0	0	4	0	2	0	5	5	0	1	5	5	0	0	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.15G>T	p.=	p.V5V	ENST00000222122	1/4	54	50	4	42	42	0	strelka-mutect	DBP,synonymous_variant,p.=,ENST00000222122,NM_001352.4;DBP,synonymous_variant,p.=,ENST00000601104,;CA11,downstream_gene_variant,,ENST00000084798,NM_001217.3;DBP,upstream_gene_variant,,ENST00000593500,;DBP,upstream_gene_variant,,ENST00000599385,;CA11,downstream_gene_variant,,ENST00000596080,;SEC1P,upstream_gene_variant,,ENST00000430145,;SEC1P,upstream_gene_variant,,ENST00000474419,;SEC1P,upstream_gene_variant,,ENST00000483163,;DBP,non_coding_transcript_exon_variant,,ENST00000594723,;CA11,downstream_gene_variant,,ENST00000599267,;CA11,downstream_gene_variant,,ENST00000594088,;	A	ENST00000222122	Transcript	synonymous_variant	459/2229	15/978	5/325	V	gtG/gtT		1		-1	DBP	HGNC	HGNC:2697	protein_coding	YES	CCDS12728.1	ENSP00000222122	Q10586		UPI0000000CC1	NM_001352.4			1/4		hmmpanther:PTHR11988,hmmpanther:PTHR11988:SF7																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	64	48636980	48636980	C	A	1	0	0	0	0	0	0	0	1	4056	813	29	2		2	DBP	19	48636980	Silent	SNP	C	C3N-00737_TP	2924068	48636980	9980636	170	21306											
ZNF611	0	.	GRCh38	chr19	52706838	52706838	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgccctgttgacaagacctCcttcatcatgcatttggaag	9	13	8	11	0	2	2	2	1	0	1	3	3	3	3	3	1	2	2	3	1	2	4			C3N-00737_TP	C3N-00737_NB	C	C																c.217G>C	p.Glu73Gln	p.E73Q	ENST00000543227	6/6	114	91	23	144	144	0	strelka-mutect	ZNF611,missense_variant,p.Glu73Gln,ENST00000543227,NM_001161499.1;ZNF611,missense_variant,p.Glu73Gln,ENST00000540744,NM_001161500.1;ZNF611,missense_variant,p.Glu4Gln,ENST00000453741,NM_001161501.1;ZNF611,missense_variant,p.Glu4Gln,ENST00000602162,;ZNF611,missense_variant,p.Glu73Gln,ENST00000319783,NM_030972.3;ZNF611,missense_variant,p.Glu4Gln,ENST00000595798,;ZNF611,missense_variant,p.Gly55Ala,ENST00000600943,;ZNF611,missense_variant,p.Glu4Gln,ENST00000601643,;ZNF611,3_prime_UTR_variant,,ENST00000596702,;ZNF611,downstream_gene_variant,,ENST00000602046,;ZNF611,3_prime_UTR_variant,,ENST00000595001,;ZNF611,3_prime_UTR_variant,,ENST00000601249,;ZNF611,3_prime_UTR_variant,,ENST00000597343,;ZNF611,3_prime_UTR_variant,,ENST00000598639,;ZNF611,3_prime_UTR_variant,,ENST00000598723,;	G	ENST00000543227	Transcript	missense_variant	492/4517	217/2118	73/705	E/Q	Gag/Cag	COSM5637662	1		-1	ZNF611	HGNC	HGNC:28766	protein_coding	YES	CCDS12855.1	ENSP00000437616	Q8N823		UPI00001406C1	NM_001161499.1	tolerated(0.11)		6/6		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF375,SMART_domains:SM00349											1						MODERATE	1	SNV	4		1	1										PASS		rs746667686	.												G	3	3	64	52706838	52706838	C	G	1	0	0	0	0	1	0	0	0	18612	864	30	4		4	ZNF611	19	52706838	Missense_Mutation	SNP	C	C3N-00737_TP	4069858	52706838	5910778	171	21307											
LILRB4	0	.	GRCh38	chr19	54664460	54664460	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgctgtcacaccccagTgaccccctggagctcatagt	8	9	8	16	0	2	1	2	1	0	0	2	2	2	2	5	1	3	2	5	1	2	2	rs201118199		C3N-00737_TP	C3N-00737_NB	T	T																c.630T>G	p.Ser210Arg	p.S210R	ENST00000391736	6/14	106	96	10	93	92	1	strelka-varscan-mutect	LILRB4,missense_variant,p.Ser210Arg,ENST00000391736,NM_001278426.3;LILRB4,missense_variant,p.Ser210Arg,ENST00000430952,NM_001278427.3;LILRB4,missense_variant,p.Ser210Arg,ENST00000391733,NM_001278429.3,NM_001278428.3;LILRB4,missense_variant,p.Ser210Arg,ENST00000391734,;LILRB4,missense_variant,p.Ser210Arg,ENST00000434286,;LILRB4,downstream_gene_variant,,ENST00000270452,;LILRB4,upstream_gene_variant,,ENST00000461262,;LILRB4,3_prime_UTR_variant,,ENST00000494796,;LILRB4,upstream_gene_variant,,ENST00000470943,;	G	ENST00000391736	Transcript	missense_variant	945/4002	630/1347	210/448	S/R	agT/agG	rs201118199	1		1	LILRB4	HGNC	HGNC:6608	protein_coding	YES	CCDS12902.1	ENSP00000375616	Q8NHJ6		UPI0000034C02	NM_001278426.3	deleterious(0)		6/14		PROSITE_profiles:PS50835,hmmpanther:PTHR11738:SF30,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs201118199	.												G	3	3	64	54664460	54664460	T	G	1	0	0	0	0	1	0	0	0	8701	1693	59	5		5	LILRB4	19	54664460	Missense_Mutation	SNP	T	C3N-00737_TP	1957622	54664460	3953156	172	21308											
FCAR	0	.	GRCh38	chr19	54885408	54885408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagttttggaatgagactGatcctgagttcgtcattgac	10	14	11	6	1	1	5	1	5	0	1	3	7	2	6	1	1	0	2	1	1	2	4	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.244G>A	p.Asp82Asn	p.D82N	ENST00000355524	3/5	565	472	93	378	376	2	strelka-varscan-mutect	FCAR,missense_variant,p.Asp82Asn,ENST00000355524,NM_002000.3;FCAR,missense_variant,p.Asp82Asn,ENST00000469767,;FCAR,missense_variant,p.Asp82Asn,ENST00000391725,NM_133269.3;FCAR,missense_variant,p.Asp70Asn,ENST00000359272,NM_133272.3;FCAR,missense_variant,p.Asp70Asn,ENST00000391724,NM_133278.3;FCAR,missense_variant,p.Asp70Asn,ENST00000391723,NM_133274.3;FCAR,missense_variant,p.Asp70Asn,ENST00000391726,NM_133273.3;FCAR,missense_variant,p.Asp82Asn,ENST00000345937,NM_133271.3;FCAR,intron_variant,,ENST00000353758,NM_133277.3;FCAR,non_coding_transcript_exon_variant,,ENST00000482092,;FCAR,non_coding_transcript_exon_variant,,ENST00000471750,;FCAR,non_coding_transcript_exon_variant,,ENST00000472634,;FCAR,missense_variant,p.Asp70Asn,ENST00000488066,;	A	ENST00000355524	Transcript	missense_variant	254/1483	244/864	82/287	D/N	Gat/Aat		1		1	FCAR	HGNC	HGNC:3608	protein_coding	YES	CCDS12907.1	ENSP00000347714	P24071		UPI000011B429	NM_002000.3	tolerated(0.44)		3/5		Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF4,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	64	54885408	54885408	G	A	1	0	0	0	0	1	0	0	0	5636	1290	45	3		3	FCAR	19	54885408	Missense_Mutation	SNP	G	C3N-00737_TP	220948	54885408	3732208	173	21309											
GP6	0	.	GRCh38	chr19	55014766	55014766	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagacactggccgaacggCtccctgatggaacaccagga	12	4	12	13	2	0	2	0	1	0	1	1	6	1	4	3	4	2	1	3	4	2	0	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.1179G>A	p.=	p.E393E	ENST00000310373	8/8	395	314	81	295	294	1	strelka-varscan-mutect	GP6,synonymous_variant,p.=,ENST00000310373,NM_001083899.2;GP6,3_prime_UTR_variant,,ENST00000417454,NM_016363.5;GP6,3_prime_UTR_variant,,ENST00000333884,NM_001256017.2;CTC-550B14.7,intron_variant,,ENST00000593060,;CTC-550B14.7,intron_variant,,ENST00000586845,;GP6,non_coding_transcript_exon_variant,,ENST00000465648,;	T	ENST00000310373	Transcript	synonymous_variant	1207/2268	1179/1863	393/620	E	gaG/gaA		1		-1	GP6	HGNC	HGNC:14388	protein_coding	YES	CCDS42626.1	ENSP00000308782	Q9HCN6		UPI000013C631	NM_001083899.2			8/8																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	64	55014766	55014766	C	T	1	0	0	0	0	0	0	0	1	6479	796	28	3		3	GP6	19	55014766	Silent	SNP	C	C3N-00737_TP	129358	55014766	3602850	174	21310											
TMEM150B	0	.	GRCh38	chr19	55312867	55312867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagggtgcctgctacagctGgaccggcagggagatggggg	7	6	19	9	1	1	1	1	0	0	1	1	3	1	2	2	6	4	3	2	6	1	1	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.694C>A	p.Gln232Lys	p.Q232K	ENST00000326652	8/8	106	90	16	77	77	0	strelka-varscan-mutect	TMEM150B,missense_variant,p.Gln232Lys,ENST00000326652,NM_001085488.2,NM_001282011.1;BRSK1,downstream_gene_variant,,ENST00000309383,NM_032430.1;BRSK1,downstream_gene_variant,,ENST00000590333,;BRSK1,downstream_gene_variant,,ENST00000326848,;TMEM150B,downstream_gene_variant,,ENST00000591570,;TMEM150B,downstream_gene_variant,,ENST00000585918,;CTD-2105E13.14,upstream_gene_variant,,ENST00000596786,;TMEM150B,3_prime_UTR_variant,,ENST00000586609,;TMEM150B,3_prime_UTR_variant,,ENST00000592603,;TMEM150B,downstream_gene_variant,,ENST00000592731,;	T	ENST00000326652	Transcript	missense_variant	877/943	694/702	232/233	Q/K	Cag/Aag		1		-1	TMEM150B	HGNC	HGNC:34415	protein_coding	YES	CCDS42629.1	ENSP00000320757	A6NC51		UPI00001AF4D4	NM_001085488.2,NM_001282011.1	tolerated_low_confidence(0.2)		8/8																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	55312867	55312867	G	T	1	0	0	0	0	1	0	0	0	16510	1357	47	2		2	TMEM150B	19	55312867	Missense_Mutation	SNP	G	C3N-00737_TP	298101	55312867	3304749	175	21311											
NLRP8	0	.	GRCh38	chr19	55954840	55954840	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttctccgagctgattgAgcaaaagtggcctggatctc	9	10	12	10	1	2	2	0	2	2	0	4	5	2	3	2	2	3	3	2	2	2	2	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.782A>T	p.Glu261Val	p.E261V	ENST00000291971	3/10	288	230	58	271	271	0	strelka-varscan-mutect	NLRP8,missense_variant,p.Glu261Val,ENST00000291971,NM_176811.2;NLRP8,missense_variant,p.Glu261Val,ENST00000590542,;	T	ENST00000291971	Transcript	missense_variant	853/3934	782/3147	261/1048	E/V	gAg/gTg		1		1	NLRP8	HGNC	HGNC:22940	protein_coding	YES	CCDS12937.1	ENSP00000291971	Q86W28		UPI00001BB3C9	NM_176811.2	deleterious(0.04)		3/10		PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF54,Pfam_domain:PF05729,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	64	55954840	55954840	A	T	1	0	0	0	0	1	0	0	0	10521	304	11	4		4	NLRP8	19	55954840	Missense_Mutation	SNP	A	C3N-00737_TP	641973	55954840	2662776	176	21312											
ZSCAN5CP	0	.	GRCh38	chr19	56209111	56209111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactctggagagaaacccCacaaatgttccaagtgtcca	13	8	7	13	0	1	1	0	0	1	1	4	3	4	2	5	1	1	1	5	1	3	1	rs745624946		C3N-00737_TP	C3N-00737_NB	C	C																c.1402C>A	p.His468Asn	p.H468N	ENST00000534327	5/5	253	194	59	206	206	0	strelka-varscan-mutect	ZSCAN5CP,missense_variant,p.His468Asn,ENST00000534327,;ZSCAN5CP,missense_variant,p.His468Asn,ENST00000376267,;	A	ENST00000534327	Transcript	missense_variant	1551/1892	1402/1491	468/496	H/N	Cac/Aac	rs745624946	1		1	ZSCAN5CP	HGNC	HGNC:34294	protein_coding	YES		ENSP00000435234	A6NGD5		UPI000041AA91		deleterious(0)		5/5		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF223,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		rs745624946	.												A	3	1	64	56209111	56209111	C	A	1	0	0	0	0	1	0	0	0	18839	594	21	2		2	ZSCAN5CP	19	56209111	Missense_Mutation	SNP	C	C3N-00737_TP	254271	56209111	2408505	177	21313											
ZNF583	0	.	GRCh38	chr19	56424258	56424258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctttcaggcagcgtgcaCatcttgctcatcatgagaga	11	11	9	10	1	5	2	3	1	2	1	5	3	5	2	0	1	3	3	0	1	1	2	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.1600C>A	p.His534Asn	p.H534N	ENST00000333201	5/5	240	223	17	204	204	0	strelka-varscan-mutect	ZNF583,missense_variant,p.His534Asn,ENST00000333201,NM_152478.2,NM_001159861.1;ZNF583,missense_variant,p.His534Asn,ENST00000291598,NM_001159860.1;ZNF583,downstream_gene_variant,,ENST00000391778,;ZNF583,downstream_gene_variant,,ENST00000537943,;ZNF583,intron_variant,,ENST00000585612,;	A	ENST00000333201	Transcript	missense_variant	1810/4916	1600/1710	534/569	H/N	Cat/Aat		1		1	ZNF583	HGNC	HGNC:26427	protein_coding	YES	CCDS12943.1	ENSP00000388502	Q96ND8		UPI000013E700	NM_152478.2,NM_001159861.1	tolerated(0.16)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF211,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	64	56424258	56424258	C	A	1	0	0	0	0	1	0	0	0	18589	478	17	2		2	ZNF583	19	56424258	Missense_Mutation	SNP	C	C3N-00737_TP	215147	56424258	2193358	178	21314											
TBC1D20	0	.	GRCh38	chr20	440269	440269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggctgcaaagtaaatcggCatcagtgggtggcaggccag	11	6	15	9	2	1	0	1	0	0	0	2	0	1	0	1	5	1	5	1	5	3	1			C3N-00737_TP	C3N-00737_NB	C	C																c.747G>T	p.Met249Ile	p.M249I	ENST00000354200	6/8	227	191	36	164	163	1	strelka-varscan-mutect	TBC1D20,missense_variant,p.Met249Ile,ENST00000354200,NM_144628.3;TBC1D20,non_coding_transcript_exon_variant,,ENST00000461188,;TBC1D20,non_coding_transcript_exon_variant,,ENST00000494633,;TBC1D20,missense_variant,p.Met249Ile,ENST00000461304,;	A	ENST00000354200	Transcript	missense_variant	895/4466	747/1212	249/403	M/I	atG/atT	COSM3770807	1		-1	TBC1D20	HGNC	HGNC:16133	protein_coding	YES	CCDS13002.1	ENSP00000346139	Q96BZ9		UPI000006D549	NM_144628.3	deleterious(0)		6/8		Pfam_domain:PF00566,hmmpanther:PTHR20913,hmmpanther:PTHR20913:SF10,SMART_domains:SM00164,Superfamily_domains:SSF47923,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	64	440269	440269	C	A	1	0	0	0	0	1	0	0	0	16009	710	25	2		2	TBC1D20	20	440269	Missense_Mutation	SNP	C	C3N-00737_TP		440269	64003898	179	21315											
CNBD2	0	.	GRCh38	chr20	35972734	35972734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaaatcattgagactgctCactggaagcaccctatcttc	12	11	6	12	0	4	1	3	1	1	1	5	3	4	2	1	1	2	2	1	1	3	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.157C>T	p.His53Tyr	p.H53Y	ENST00000349339	2/12	306	233	73	255	255	0	strelka-varscan-mutect	CNBD2,missense_variant,p.His53Tyr,ENST00000489667,NM_001304367.1;CNBD2,missense_variant,p.His53Tyr,ENST00000373973,;CNBD2,missense_variant,p.His53Tyr,ENST00000349339,NM_080834.3;CNBD2,missense_variant,p.His53Tyr,ENST00000538900,NM_001207076.2;CNBD2,missense_variant,p.His112Tyr,ENST00000622112,;CNBD2,missense_variant,p.His53Tyr,ENST00000463258,;	T	ENST00000349339	Transcript	missense_variant	313/1927	157/1719	53/572	H/Y	Cac/Tac		1		1	CNBD2	HGNC	HGNC:16145	protein_coding	YES	CCDS13270.1	ENSP00000340954	Q96M20		UPI0000367038	NM_080834.3	tolerated(0.24)		2/12		hmmpanther:PTHR23011:SF15,hmmpanther:PTHR23011																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	64	35972734	35972734	C	T	1	0	0	0	0	1	0	0	0	3370	826	29	3		3	CNBD2	20	35972734	Missense_Mutation	SNP	C	C3N-00737_TP	35532465	35972734	28471433	180	21316											
CTCFL	0	.	GRCh38	chr20	57512664	57512664	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagttttctggtgctgaatGagggcatagcgttcatggaa	9	13	14	5	1	2	3	1	3	1	0	2	4	2	4	0	3	2	4	0	3	3	4	rs751239769		C3N-00737_TP	C3N-00737_NB	G	G																c.1419C>G	p.=	p.L473L	ENST00000423479	8/12	276	256	20	215	215	0	strelka-varscan-mutect	CTCFL,synonymous_variant,p.=,ENST00000608263,NM_001269041.1;CTCFL,synonymous_variant,p.=,ENST00000429804,NM_001269046.1;CTCFL,synonymous_variant,p.=,ENST00000609232,NM_080618.3;CTCFL,synonymous_variant,p.=,ENST00000243914,;CTCFL,synonymous_variant,p.=,ENST00000371196,NM_001269042.1,NM_001269040.1;CTCFL,synonymous_variant,p.=,ENST00000422869,NM_001269047.1;CTCFL,synonymous_variant,p.=,ENST00000608425,NM_001269045.1;CTCFL,synonymous_variant,p.=,ENST00000608440,NM_001269044.1;CTCFL,synonymous_variant,p.=,ENST00000423479,NM_001269043.1;CTCFL,synonymous_variant,p.=,ENST00000539382,NM_001269050.1;CTCFL,synonymous_variant,p.=,ENST00000433949,NM_001269049.1;CTCFL,synonymous_variant,p.=,ENST00000608903,NM_001269055.1;CTCFL,synonymous_variant,p.=,ENST00000502686,NM_001269054.1;CTCFL,intron_variant,,ENST00000432255,NM_001269048.1;CTCFL,downstream_gene_variant,,ENST00000608858,;CTCFL,3_prime_UTR_variant,,ENST00000426658,;CTCFL,intron_variant,,ENST00000422109,;CTCFL,downstream_gene_variant,,ENST00000607923,;CTCFL,downstream_gene_variant,,ENST00000608720,;CTCFL,downstream_gene_variant,,ENST00000608108,;	C	ENST00000423479	Transcript	synonymous_variant	1510/2478	1419/2103	473/700	L	ctC/ctG	rs751239769	1		-1	CTCFL	HGNC	HGNC:16234	protein_coding	YES	CCDS58780.1	ENSP00000415579	Q8NI51		UPI000157860F	NM_001269043.1			8/12		PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF96,hmmpanther:PTHR24375,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		rs751239769	.												C	2	2	64	57512664	57512664	G	C	1	0	0	0	0	0	0	0	1	3808	1277	45	4		4	CTCFL	20	57512664	Silent	SNP	G	C3N-00737_TP	21539930	57512664	6931503	181	21317											
GAB4	0	.	GRCh38	chr22	16970163	16970163	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttctcctcatgatgaatggGgcctcagaaccctgggagaa	10	10	11	10	0	3	4	2	2	1	2	4	5	3	4	3	3	1	0	3	3	3	1			C3N-00737_TP	C3N-00737_NB	G	G																c.717C>T	p.=	p.A239A	ENST00000400588	4/10	291	263	28	222	221	1	varscan-mutect	GAB4,synonymous_variant,p.=,ENST00000400588,NM_001037814.1;AC006548.28,non_coding_transcript_exon_variant,,ENST00000623130,;GAB4,intron_variant,,ENST00000523144,;GAB4,upstream_gene_variant,,ENST00000520505,;GAB4,intron_variant,,ENST00000465611,;	A	ENST00000400588	Transcript	synonymous_variant	825/2630	717/1725	239/574	A	gcC/gcT	COSM3379255	1		-1	GAB4	HGNC	HGNC:18325	protein_coding	YES	CCDS42976.1	ENSP00000383431	Q2WGN9		UPI00002326B5	NM_001037814.1			4/10		hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF20											1						LOW	1	SNV	1		1	1										PASS		rs1441617680	.												A	2	1	64	16970163	16970163	G	A	1	0	0	0	0	0	0	0	1	6022	1219	43	3		3	GAB4	22	16970163	Silent	SNP	G	C3N-00737_TP		16970163	33848305	182	21318											
TRMT2A	0	.	GRCh38	chr22	20113504	20113504	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaccccaatgaccctctttaCcttctgaaacaggaaagcgt	12	9	7	13	1	2	2	0	2	2	0	2	4	2	3	4	1	3	0	4	1	4	3	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.1360G>C	p.Val454Leu	p.V454L	ENST00000252136	9/12	245	198	47	185	185	0	strelka-varscan-mutect	TRMT2A,missense_variant,p.Val454Leu,ENST00000252136,NM_022727.5,NM_182984.4;TRMT2A,missense_variant,p.Val454Leu,ENST00000403707,;TRMT2A,missense_variant,p.Val454Leu,ENST00000404751,NM_001257994.1;TRMT2A,missense_variant,p.Val472Leu,ENST00000439169,;TRMT2A,missense_variant,p.Val2Leu,ENST00000444845,;TRMT2A,missense_variant,p.Gly43Ala,ENST00000444256,;DGCR8,downstream_gene_variant,,ENST00000351989,NM_022720.6;DGCR8,downstream_gene_variant,,ENST00000383024,NM_001190326.1;DGCR8,downstream_gene_variant,,ENST00000407755,;RANBP1,upstream_gene_variant,,ENST00000430524,NM_001278639.1;RANBP1,upstream_gene_variant,,ENST00000402752,NM_001278640.1;RANBP1,upstream_gene_variant,,ENST00000418705,NM_001278641.1;RANBP1,upstream_gene_variant,,ENST00000331821,NM_002882.3;RANBP1,upstream_gene_variant,,ENST00000423859,;RANBP1,upstream_gene_variant,,ENST00000432879,;RANBP1,upstream_gene_variant,,ENST00000416427,;RANBP1,upstream_gene_variant,,ENST00000411892,;TRMT2A,downstream_gene_variant,,ENST00000445045,;RANBP1,upstream_gene_variant,,ENST00000421656,;MIR6816,downstream_gene_variant,,ENST00000620368,;AC006547.8,upstream_gene_variant,,ENST00000412713,;TRMT2A,non_coding_transcript_exon_variant,,ENST00000492988,;RANBP1,upstream_gene_variant,,ENST00000467920,;TRMT2A,downstream_gene_variant,,ENST00000488335,;TRMT2A,downstream_gene_variant,,ENST00000480460,;TRMT2A,non_coding_transcript_exon_variant,,ENST00000494820,;TRMT2A,non_coding_transcript_exon_variant,,ENST00000487668,;TRMT2A,non_coding_transcript_exon_variant,,ENST00000471040,;DGCR8,downstream_gene_variant,,ENST00000495826,;DGCR8,downstream_gene_variant,,ENST00000498171,;DGCR8,downstream_gene_variant,,ENST00000475941,;RANBP1,upstream_gene_variant,,ENST00000435265,;TRMT2A,downstream_gene_variant,,ENST00000494641,;TRMT2A,downstream_gene_variant,,ENST00000468917,;TRMT2A,downstream_gene_variant,,ENST00000464535,;TRMT2A,upstream_gene_variant,,ENST00000480339,;TRMT2A,downstream_gene_variant,,ENST00000463710,;RANBP1,upstream_gene_variant,,ENST00000488484,;TRMT2A,upstream_gene_variant,,ENST00000487378,;TRMT2A,downstream_gene_variant,,ENST00000459644,;DGCR8,downstream_gene_variant,,ENST00000485802,;	G	ENST00000252136	Transcript	missense_variant	1749/2964	1360/1878	454/625	V/L	Gta/Cta		1		-1	TRMT2A	HGNC	HGNC:24974	protein_coding	YES	CCDS13774.1	ENSP00000252136	Q8IZ69		UPI00001BBFC5	NM_022727.5,NM_182984.4	deleterious(0.01)		9/12		PROSITE_profiles:PS51687,hmmpanther:PTHR11061:SF24,hmmpanther:PTHR11061,Gene3D:3.40.50.150,Pfam_domain:PF05958,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		rs1194700864	.												G	3	3	64	20113504	20113504	C	G	1	0	0	0	0	1	0	0	0	17069	521	18	4		4	TRMT2A	22	20113504	Missense_Mutation	SNP	C	C3N-00737_TP	3143341	20113504	30704964	183	21319											
ZNF280B	0	.	GRCh38	chr22	22489110	22489110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcaggacggtcactgcttCtgatgtaacggtctcatgac	8	11	12	10	2	3	2	2	2	2	0	4	3	3	3	0	4	2	3	0	4	1	2	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.289G>A	p.Glu97Lys	p.E97K	ENST00000626650	4/4	255	214	41	265	264	1	strelka-varscan-mutect	ZNF280B,missense_variant,p.Glu97Lys,ENST00000626650,NM_080764.3;ZNF280B,missense_variant,p.Glu97Lys,ENST00000613655,;ZNF280B,missense_variant,p.Glu97Lys,ENST00000619852,;	T	ENST00000626650	Transcript	missense_variant	1032/5721	289/1632	97/543	E/K	Gaa/Aaa		1		-1	ZNF280B	HGNC	HGNC:23022	protein_coding	YES	CCDS13799.1	ENSP00000485750		A0A0D9SEJ8	UPI000000D980	NM_080764.3	tolerated(0.77)		4/4		Pfam_domain:PF13836																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	64	22489110	22489110	C	T	1	0	0	0	0	1	0	0	0	18391	922	32	3		3	ZNF280B	22	22489110	Missense_Mutation	SNP	C	C3N-00737_TP	2375606	22489110	28329358	184	21320											
SGSM1	0	.	GRCh38	chr22	24868777	24868777	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggttctgccgagtccAcatcttcagacaaagatgat	11	10	9	11	1	4	3	2	1	2	2	5	4	5	3	2	1	1	1	2	1	1	2	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.1213A>G	p.Thr405Ala	p.T405A	ENST00000400359	12/26	237	183	54	228	228	0	strelka-varscan-mutect	SGSM1,missense_variant,p.Thr405Ala,ENST00000400358,NM_001098497.2;SGSM1,missense_variant,p.Thr405Ala,ENST00000610372,NM_133454.3,NM_001098498.2;SGSM1,missense_variant,p.Thr405Ala,ENST00000400359,NM_001039948.3;SGSM1,non_coding_transcript_exon_variant,,ENST00000473458,;SGSM1,non_coding_transcript_exon_variant,,ENST00000480523,;	G	ENST00000400359	Transcript	missense_variant	1220/4317	1213/3447	405/1148	T/A	Aca/Gca		1		1	SGSM1	HGNC	HGNC:29410	protein_coding	YES	CCDS46674.1	ENSP00000383212	Q2NKQ1		UPI00006EB130	NM_001039948.3	tolerated(0.75)		12/26		hmmpanther:PTHR22957:SF187,hmmpanther:PTHR22957																	MODERATE	1	SNV	5			1										PASS		rs1005672841	.												G	3	3	64	24868777	24868777	A	G	1	0	0	0	0	1	0	0	0	14480	159	6	5		5	SGSM1	22	24868777	Missense_Mutation	SNP	A	C3N-00737_TP	2379667	24868777	25949691	185	21321											
SEZ6L	0	.	GRCh38	chr22	26292887	26292887	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccgaaaggagagtgcGgtccctacaacacccgcacc	11	4	11	15	3	0	1	0	0	0	1	1	4	1	2	4	3	3	1	4	3	3	1	rs368342681		C3N-00737_TP	C3N-00737_NB	G	G																c.576G>T	p.=	p.A192A	ENST00000248933	2/17	262	191	71	226	226	0	strelka-varscan-mutect	SEZ6L,synonymous_variant,p.=,ENST00000529632,NM_001184775.1;SEZ6L,synonymous_variant,p.=,ENST00000360929,NM_001184776.1;SEZ6L,synonymous_variant,p.=,ENST00000404234,NM_001184773.1;SEZ6L,synonymous_variant,p.=,ENST00000248933,NM_021115.4;SEZ6L,synonymous_variant,p.=,ENST00000629590,NM_001184774.1;SEZ6L,synonymous_variant,p.=,ENST00000343706,NM_001184777.1;SEZ6L,5_prime_UTR_variant,,ENST00000402979,;SEZ6L,5_prime_UTR_variant,,ENST00000403121,;	T	ENST00000248933	Transcript	synonymous_variant	671/3248	576/3075	192/1024	A	gcG/gcT	rs368342681,COSM300387	1		1	SEZ6L	HGNC	HGNC:10763	protein_coding	YES	CCDS13833.1	ENSP00000248933	Q9BYH1		UPI0000136779	NM_021115.4			2/17		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81											0,1						LOW	1	SNV	1		0,1	1										PASS		rs368342681	.												T	2	4	64	26292887	26292887	G	T	1	0	0	0	0	0	0	0	1	14422	1103	39	1		1	SEZ6L	22	26292887	Silent	SNP	G	C3N-00737_TP	1424110	26292887	24525581	186	21322											
AP1B1	0	.	GRCh38	chr22	29356617	29356617	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactgcattggccaccacCtggttgagagggtgggaggg	7	7	17	10	0	0	1	0	1	0	1	0	3	0	2	4	5	1	2	4	5	0	2	novel		C3N-00737_TP	C3N-00737_NB	C	C																c.526-1G>C		p.X176_splice	ENST00000357586		89	82	7	74	74	0	strelka-varscan-mutect	AP1B1,splice_acceptor_variant,,ENST00000357586,NM_001127.3;AP1B1,splice_acceptor_variant,,ENST00000432560,NM_145730.2;AP1B1,splice_acceptor_variant,,ENST00000317368,NM_001166019.1;AP1B1,splice_acceptor_variant,,ENST00000405198,;AP1B1,splice_acceptor_variant,,ENST00000402502,;AP1B1,splice_acceptor_variant,,ENST00000415447,;AP1B1,splice_acceptor_variant,,ENST00000421126,;AP1B1,upstream_gene_variant,,ENST00000415756,;AP1B1,downstream_gene_variant,,ENST00000473606,;	G	ENST00000357586	Transcript	splice_acceptor_variant	-/4176	526/2850	176/949				1		-1	AP1B1	HGNC	HGNC:554	protein_coding	YES	CCDS13855.1	ENSP00000350199	Q10567		UPI0000124FE1	NM_001127.3				5/22																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	64	29356617	29356617	C	G	1	0	0	0	0	0	0	1	0	847	695	24	4		4	AP1B1	22	29356617	Splice_Site	SNP	C	C3N-00737_TP	3063730	29356617	21461851	187	21323											
LARGE1	0	.	GRCh38	chr22	33650583	33650583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgcgcatgcgcacctccagGctctcgcgctcccgctggct	3	8	11	19	6	1	0	0	0	1	0	5	0	3	0	3	2	1	6	3	2	0	0			C3N-00737_TP	C3N-00737_NB	G	G																c.192C>A	p.Ser64Arg	p.S64R	ENST00000354992	4/16	143	126	17	137	137	0	strelka-varscan-mutect	LARGE1,missense_variant,p.Ser64Arg,ENST00000354992,NM_004737.4;LARGE1,missense_variant,p.Ser64Arg,ENST00000397394,NM_133642.3;LARGE1,missense_variant,p.Ser64Arg,ENST00000402320,;LARGE1,missense_variant,p.Ser64Arg,ENST00000413114,;LARGE1,missense_variant,p.Ser64Arg,ENST00000434071,;LARGE1,missense_variant,p.Ser64Arg,ENST00000430220,;LARGE1,downstream_gene_variant,,ENST00000423375,;LARGE1,downstream_gene_variant,,ENST00000432776,;LARGE1,non_coding_transcript_exon_variant,,ENST00000462606,;LARGE1,non_coding_transcript_exon_variant,,ENST00000494763,;	T	ENST00000354992	Transcript	missense_variant	764/4409	192/2271	64/756	S/R	agC/agA	COSM4427160	1		-1	LARGE1	HGNC	HGNC:6511	protein_coding	YES	CCDS13912.1	ENSP00000347088	O95461	X5DR28	UPI000012E200	NM_004737.4	tolerated_low_confidence(0.24)		4/16		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	64	33650583	33650583	G	T	1	0	0	0	0	1	0	0	0	8537	1194	42	2		2	LARGE1	22	33650583	Missense_Mutation	SNP	G	C3N-00737_TP	4293966	33650583	17167885	188	21324											
ADGRG2	0	.	GRCh38	chrX	19013724	19013724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctggtagtgttgacattcGcaggggcagacacggtggga	8	8	17	8	3	0	2	0	1	0	1	1	3	0	3	0	5	0	5	0	5	1	3			C3N-00737_TP	C3N-00737_NB	G	G																c.1061C>T	p.Ala354Val	p.A354V	ENST00000379869	16/29	99	90	9	55	55	0	strelka-mutect	ADGRG2,missense_variant,p.Ala338Val,ENST00000379878,NM_001184833.1;ADGRG2,missense_variant,p.Ala330Val,ENST00000379876,NM_001184835.1,NM_001184836.1;ADGRG2,missense_variant,p.Ala354Val,ENST00000379869,NM_001079858.2;ADGRG2,missense_variant,p.Ala332Val,ENST00000360279,NM_001079860.2;ADGRG2,missense_variant,p.Ala354Val,ENST00000379873,NM_001184834.1;ADGRG2,missense_variant,p.Ala324Val,ENST00000357544,NM_001184837.1;ADGRG2,missense_variant,p.Ala351Val,ENST00000357991,NM_005756.3;ADGRG2,missense_variant,p.Ala340Val,ENST00000356606,NM_001079859.2;ADGRG2,missense_variant,p.Ala324Val,ENST00000354791,;ADGRG2,missense_variant,p.Ala324Val,ENST00000340581,;	A	ENST00000379869	Transcript	missense_variant	1225/4768	1061/3054	354/1017	A/V	gCg/gTg	COSM4108495	1		-1	ADGRG2	HGNC	HGNC:4516	protein_coding	YES	CCDS43923.1	ENSP00000369198	Q8IZP9		UPI000021246C	NM_001079858.2	tolerated(0.71)		16/29		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF264											1						MODERATE	1	SNV	1		1	1										PASS		rs1254226753	.												A	3	1	64	19013724	19013724	G	A	1	0	0	0	0	1	0	0	0	369	1087	38	1		1	ADGRG2	23	19013724	Missense_Mutation	SNP	G	C3N-00737_TP		19013724	137027171	189	21325											
GAGE2A	0	.	GRCh38	chrX	49591300	49591300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaggagggacaggatgaggGagcatctgcaggtcaaggtg	11	6	18	6	0	3	1	2	1	1	0	3	5	3	5	0	6	2	2	0	6	1	0	novel		C3N-00737_TP	C3N-00737_NB	G	G																c.185G>T	p.Gly62Val	p.G62V	ENST00000362097	3/5	872	742	130	462	462	0	strelka-varscan-mutect	GAGE2A,missense_variant,p.Gly62Val,ENST00000362097,NM_001472.2,NM_012196.1,NM_001127212.1;GAGE1,intron_variant,,ENST00000610680,NM_001098405.2,NM_001127200.2;GAGE12H,downstream_gene_variant,,ENST00000381722,NM_001098410.1;	T	ENST00000362097	Transcript	missense_variant	268/528	185/351	62/116	G/V	gGa/gTa		1		1	GAGE2A	HGNC	HGNC:4099	protein_coding	YES	CCDS48114.1	ENSP00000355421	Q6NT46		UPI00001AF5C0	NM_001472.2,NM_012196.1,NM_001127212.1	deleterious(0.02)		3/5		Pfam_domain:PF05831,hmmpanther:PTHR14047,hmmpanther:PTHR14047:SF6,SMART_domains:SM01379																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	49591300	49591300	G	T	1	0	0	0	0	1	0	0	0	6062	1174	41	2		2	GAGE2A	23	49591300	Missense_Mutation	SNP	G	C3N-00737_TP	30577576	49591300	106449595	190	21326											
BMP15	0	.	GRCh38	chrX	50911076	50911076	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccatggtgaggctggTgaagcccttgaccaatgtgg	8	8	15	10	0	0	3	0	3	0	0	0	3	0	3	4	5	1	1	4	5	2	1	novel		C3N-00737_TP	C3N-00737_NB	T	T																c.293T>A	p.Val98Glu	p.V98E	ENST00000252677	1/2	172	73	99	132	131	1	strelka-varscan-mutect	BMP15,missense_variant,p.Val98Glu,ENST00000252677,NM_005448.2;	A	ENST00000252677	Transcript	missense_variant	293/1179	293/1179	98/392	V/E	gTg/gAg		1		1	BMP15	HGNC	HGNC:1068	protein_coding	YES	CCDS14334.1	ENSP00000252677	O95972		UPI000013CD7C	NM_005448.2	deleterious(0)		1/2		hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	64	50911076	50911076	T	A	1	0	0	0	0	1	0	0	0	1613	1696	59	4		4	BMP15	23	50911076	Missense_Mutation	SNP	T	C3N-00737_TP	1319776	50911076	105129819	191	21327											
TBX22	0	.	GRCh38	chrX	80028021	80028021	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgggcttttagagacctaCccatggaggccttctttcac	8	12	10	11	0	2	1	1	0	1	1	2	4	2	2	3	3	1	1	3	3	2	5			C3N-00737_TP	C3N-00737_NB	C	C																c.894C>A	p.Tyr298Ter	p.Y298*	ENST00000373296	8/9	227	195	32	233	233	0	strelka-varscan-mutect	TBX22,stop_gained,p.Tyr298Ter,ENST00000373296,NM_001109878.1,NM_001109879.1;TBX22,stop_gained,p.Tyr298Ter,ENST00000373294,NM_016954.2,NM_001303475.1;TBX22,non_coding_transcript_exon_variant,,ENST00000626877,;TBX22,3_prime_UTR_variant,,ENST00000626498,;	A	ENST00000373296	Transcript	stop_gained	1028/2355	894/1563	298/520	Y/*	taC/taA	COSM5234032	1		1	TBX22	HGNC	HGNC:11600	protein_coding	YES	CCDS14445.1	ENSP00000362393	Q9Y458		UPI00001377ED	NM_001109878.1,NM_001109879.1			8/9		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF116											1						HIGH	1	SNV	5		1	1										PASS		.	.												A	4	1	64	80028021	80028021	C	A	1	0	0	0	0	0	1	0	0	16063	518	18	2		2	TBX22	23	80028021	Nonsense_Mutation	SNP	C	C3N-00737_TP	29116945	80028021	76012874	192	21328											
KIAA1210	0	.	GRCh38	chrX	119089476	119089476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttctctaaggacaagtgcGagaaagggacattcctggca	12	8	11	10	1	1	1	0	0	1	1	3	4	2	3	2	3	1	1	2	3	3	3			C3N-00737_TP	C3N-00737_NB	G	G																c.1754C>T	p.Ser585Leu	p.S585L	ENST00000402510	11/14	217	186	31	146	146	0	strelka-varscan-mutect	KIAA1210,missense_variant,p.Ser585Leu,ENST00000402510,NM_020721.1;	A	ENST00000402510	Transcript	missense_variant	1754/7824	1754/5130	585/1709	S/L	tCg/tTg	COSM4376961,COSM4376962	1		-1	KIAA1210	HGNC	HGNC:29218	protein_coding	YES	CCDS48156.1	ENSP00000384670	Q9ULL0		UPI0001596C4C	NM_020721.1	deleterious(0.04)		11/14													1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs934680222	.												A	3	1	64	119089476	119089476	G	A	1	0	0	0	0	1	0	0	0	8106	1059	37	1		1	KIAA1210	23	119089476	Missense_Mutation	SNP	G	C3N-00737_TP	39061455	119089476	36951419	193	21329											
XPNPEP2	0	.	GRCh38	chrX	129754520	129754520	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggtctggctggagaagAacgtgcccaaaggcacagtg	11	7	14	9	1	1	2	0	0	1	2	1	3	1	2	1	4	2	2	1	4	3	1	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.1156A>T	p.Asn386Tyr	p.N386Y	ENST00000371106	12/21	175	150	25	108	108	0	strelka-varscan-mutect	XPNPEP2,missense_variant,p.Asn386Tyr,ENST00000371106,NM_003399.5;	T	ENST00000371106	Transcript	missense_variant	1348/3270	1156/2025	386/674	N/Y	Aac/Tac		1		1	XPNPEP2	HGNC	HGNC:12823	protein_coding	YES	CCDS14613.1	ENSP00000360147	O43895		UPI000013901A	NM_003399.5	deleterious(0.02)		12/21		hmmpanther:PTHR10804,hmmpanther:PTHR10804:SF98,Gene3D:3.90.230.10,Pfam_domain:PF00557,Superfamily_domains:SSF55920																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	64	129754520	129754520	A	T	1	0	0	0	0	1	0	0	0	18002	246	9	4		4	XPNPEP2	23	129754520	Missense_Mutation	SNP	A	C3N-00737_TP	10665044	129754520	26286375	194	21330											
ADGRG4	0	.	GRCh38	chrX	136344971	136344971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accttgtctcaaacaaaaatCcacaaatactggggcactcc	15	8	5	13	0	1	0	1	0	1	0	4	0	3	0	3	2	2	1	3	2	5	2			C3N-00737_TP	C3N-00737_NB	C	C																c.1265C>A	p.Ser422Tyr	p.S422Y	ENST00000394143	6/26	93	58	35	96	96	0	strelka-varscan-mutect	ADGRG4,missense_variant,p.Ser422Tyr,ENST00000394143,NM_153834.3;ADGRG4,missense_variant,p.Ser422Tyr,ENST00000370652,;ADGRG4,missense_variant,p.Ser217Tyr,ENST00000394141,;	A	ENST00000394143	Transcript	missense_variant	1556/9931	1265/9243	422/3080	S/Y	tCc/tAc	COSM230834	1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3	deleterious(0.04)		6/26													1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	64	136344971	136344971	C	A	1	0	0	0	0	1	0	0	0	371	855	30	2		2	ADGRG4	23	136344971	Missense_Mutation	SNP	C	C3N-00737_TP	6590451	136344971	19695924	195	21331											
F8	0	.	GRCh38	chrX	154904057	154904057	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgagccattactaagccAggtagtgtatccattatgta	11	13	8	9	0	0	1	0	1	0	0	2	1	2	1	4	1	3	3	4	1	6	6	novel		C3N-00737_TP	C3N-00737_NB	A	A																c.5847T>A	p.=	p.P1949P	ENST00000360256	18/26	156	129	27	132	132	0	strelka-varscan-mutect	F8,synonymous_variant,p.=,ENST00000360256,NM_000132.3;EEF1A1P31,downstream_gene_variant,,ENST00000415978,;	T	ENST00000360256	Transcript	synonymous_variant	6048/9059	5847/7056	1949/2351	P	ccT/ccA		1		-1	F8	HGNC	HGNC:3546	protein_coding	YES	CCDS35457.1	ENSP00000353393	P00451		UPI000012A416	NM_000132.3			18/26		Gene3D:2.60.40.420,Pfam_domain:PF07731,PIRSF_domain:PIRSF000354,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF50,Superfamily_domains:SSF49503																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	64	154904057	154904057	A	T	1	0	0	0	0	0	0	0	1	5218	175	7	4		4	F8	23	154904057	Silent	SNP	A	C3N-00737_TP	18559086	154904057	1136838	196	21332											
PRAMEF10	0	.	GRCh38	chr1	12893205	12893205	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaagttgaaggtggtgAgctgggaacagtggctcagg	11	8	17	5	0	1	3	1	3	0	0	1	4	1	4	0	5	2	3	0	5	3	1	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.1136T>A	p.Leu379His	p.L379H	ENST00000235347	4/4	269	249	20	374	373	1	varscan-mutect	PRAMEF10,missense_variant,p.Leu379His,ENST00000235347,NM_001039361.4;	T	ENST00000235347	Transcript	missense_variant	1216/1525	1136/1425	379/474	L/H	cTc/cAc		1		-1	PRAMEF10	HGNC	HGNC:27997	protein_coding	YES	CCDS41255.1	ENSP00000235347	O60809		UPI000442CF00	NM_001039361.4	deleterious(0)		4/4		hmmpanther:PTHR14224:SF28,hmmpanther:PTHR14224,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	12893205	12893205	A	T	1	0	0	0	0	1	0	0	0	12555	304	11	4		4	PRAMEF10	1	12893205	Missense_Mutation	SNP	A	C3N-00738_TP		12893205	236063217	1	21333											
HSPG2	0	.	GRCh38	chr1	21855666	21855666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcgcagggagctggccgCcggggccccctgacgagtag	5	5	16	15	4	0	1	0	1	0	0	1	3	0	2	5	4	1	3	5	4	1	2	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.5711G>T	p.Gly1904Val	p.G1904V	ENST00000374695	46/97	365	331	34	448	446	2	strelka-varscan-mutect	HSPG2,missense_variant,p.Gly1904Val,ENST00000374695,NM_005529.6,NM_001291860.1;HSPG2,upstream_gene_variant,,ENST00000493940,;	A	ENST00000374695	Transcript	missense_variant	5791/14327	5711/13176	1904/4391	G/V	gGc/gTc		1		-1	HSPG2	HGNC	HGNC:5273	protein_coding	YES	CCDS30625.1	ENSP00000363827	P98160		UPI0000212778	NM_005529.6,NM_001291860.1	deleterious(0)		46/97		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	65	21855666	21855666	C	A	1	0	0	0	0	1	0	0	0	7326	739	26	2		2	HSPG2	1	21855666	Missense_Mutation	SNP	C	C3N-00738_TP	8962461	21855666	227100756	2	21334											
MECR	0	.	GRCh38	chr1	29230865	29230865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcagcccccgccactgccgGgcgggggttcgcacccgcca	5	3	14	19	5	0	0	0	0	0	0	1	0	0	0	6	3	3	3	6	3	0	1	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.42C>T	p.=	p.A14A	ENST00000263702	1/10	190	176	14	220	220	0	strelka-varscan-mutect	MECR,synonymous_variant,p.=,ENST00000263702,NM_016011.3;MECR,5_prime_UTR_variant,,ENST00000373791,NM_001024732.2;MECR,non_coding_transcript_exon_variant,,ENST00000489248,;MECR,non_coding_transcript_exon_variant,,ENST00000463052,;MECR,non_coding_transcript_exon_variant,,ENST00000490529,;MECR,non_coding_transcript_exon_variant,,ENST00000475861,;MECR,non_coding_transcript_exon_variant,,ENST00000474946,;MECR,non_coding_transcript_exon_variant,,ENST00000484012,;MECR,non_coding_transcript_exon_variant,,ENST00000482610,;MECR,non_coding_transcript_exon_variant,,ENST00000493928,;	A	ENST00000263702	Transcript	synonymous_variant	68/1353	42/1122	14/373	A	gcC/gcT		1		-1	MECR	HGNC	HGNC:19691	protein_coding	YES	CCDS30659.1	ENSP00000263702	Q9BV79		UPI000013D444	NM_016011.3			1/10																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	65	29230865	29230865	G	A	1	0	0	0	0	0	0	0	1	9363	1219	43	3		3	MECR	1	29230865	Silent	SNP	G	C3N-00738_TP	7375199	29230865	219725557	3	21335											
ADGRB2	0	.	GRCh38	chr1	31741377	31741377	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggtgcactcactgacAgatacaggtagcggtactca	12	7	12	10	1	2	2	2	1	0	1	2	2	2	2	0	3	5	4	0	3	3	3	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.1790T>A	p.Leu597Gln	p.L597Q	ENST00000373655	11/33	160	150	10	187	186	1	strelka-varscan-mutect	ADGRB2,missense_variant,p.Leu597Gln,ENST00000373658,;ADGRB2,missense_variant,p.Leu597Gln,ENST00000373655,NM_001294335.1;ADGRB2,missense_variant,p.Leu530Gln,ENST00000398542,;ADGRB2,missense_variant,p.Leu597Gln,ENST00000527361,NM_001294336.1;ADGRB2,missense_variant,p.Leu545Gln,ENST00000398556,;ADGRB2,missense_variant,p.Leu530Gln,ENST00000398547,;ADGRB2,missense_variant,p.Leu585Gln,ENST00000398538,;ADGRB2,missense_variant,p.Leu535Gln,ENST00000420125,;ADGRB2,downstream_gene_variant,,ENST00000533175,;ADGRB2,intron_variant,,ENST00000530134,;ADGRB2,downstream_gene_variant,,ENST00000468430,;ADGRB2,upstream_gene_variant,,ENST00000465256,;ADGRB2,upstream_gene_variant,,ENST00000466109,;	T	ENST00000373655	Transcript	missense_variant	2132/5400	1790/4755	597/1584	L/Q	cTg/cAg		1		-1	ADGRB2	HGNC	HGNC:944	protein_coding	YES	CCDS72747.1	ENSP00000362759	O60241		UPI000046FEC7	NM_001294335.1	tolerated(0.38)		11/33		hmmpanther:PTHR12011:SF41,hmmpanther:PTHR12011																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	31741377	31741377	A	T	1	0	0	0	0	1	0	0	0	356	202	7	4		4	ADGRB2	1	31741377	Missense_Mutation	SNP	A	C3N-00738_TP	2510512	31741377	217215045	4	21336											
RAD54L	0	.	GRCh38	chr1	46278146	46278146	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgactgcacttcagaccTggcagggtggaaccactgca	9	9	11	12	0	2	2	1	1	1	1	2	3	2	3	2	3	3	3	2	3	1	2	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.2108T>A	p.Leu703Gln	p.L703Q	ENST00000371975	18/18	435	405	30	558	557	1	strelka-varscan-mutect	RAD54L,missense_variant,p.Leu703Gln,ENST00000371975,NM_003579.3;RAD54L,missense_variant,p.Leu703Gln,ENST00000442598,NM_001142548.1;RAD54L,missense_variant,p.Leu277Gln,ENST00000488942,;LRRC41,3_prime_UTR_variant,,ENST00000617190,;LRRC41,intron_variant,,ENST00000496156,;LRRC41,downstream_gene_variant,,ENST00000343304,NM_006369.4;LRRC41,downstream_gene_variant,,ENST00000615587,;LRRC41,downstream_gene_variant,,ENST00000617760,;LRRC41,downstream_gene_variant,,ENST00000472710,;RAD54L,downstream_gene_variant,,ENST00000459678,;RAD54L,downstream_gene_variant,,ENST00000476687,;	A	ENST00000371975	Transcript	missense_variant	2782/3108	2108/2244	703/747	L/Q	cTg/cAg		1		1	RAD54L	HGNC	HGNC:9826	protein_coding	YES	CCDS532.1	ENSP00000361043	Q92698		UPI0000378007	NM_003579.3	deleterious(0.04)		18/18		Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1384711289	.												A	3	1	65	46278146	46278146	T	A	1	0	0	0	0	1	0	0	0	13154	1580	55	4		4	RAD54L	1	46278146	Missense_Mutation	SNP	T	C3N-00738_TP	14536769	46278146	202678276	5	21337											
CC2D1B	0	.	GRCh38	chr1	52362604	52362625	+	Frame_Shift_Del	DEL	TGCCCCTTGGGTGCTGGCTTCT	TGCCCCTTGGGTGCTGGCTTCT	-																															ccctgtgtccaaactcacccTgccccttgggtgctggcttc																								novel		C3N-00738_TP	C3N-00738_NB	TGCCCCTTGGGTGCTGGCTTCT	TGCCCCTTGGGTGCTGGCTTCT																c.191_212delAGAAGCCAGCACCCAAGGGGCA	p.Lys64ArgfsTer36	p.K64Rfs*36	ENST00000371586	3/24	181	166	15	203	203	0	sindel-varindel-pindel	CC2D1B,frameshift_variant,p.Lys64ArgfsTer36,ENST00000371586,NM_032449.2;CC2D1B,frameshift_variant,p.Lys64ArgfsTer36,ENST00000284376,;CC2D1B,upstream_gene_variant,,ENST00000438021,;CC2D1B,upstream_gene_variant,,ENST00000450942,;CC2D1B,upstream_gene_variant,,ENST00000460261,;CC2D1B,splice_region_variant,,ENST00000491136,;	-	ENST00000371586	Transcript	frameshift_variant,splice_region_variant	330-351/5642	191-212/2577	64-71/858	KKPAPKGQ/X	aAGAAGCCAGCACCCAAGGGGCAg/ag		1		-1	CC2D1B	HGNC	HGNC:29386	protein_coding	YES	CCDS30714.1	ENSP00000360642	Q5T0F9		UPI00001609B7	NM_032449.2			3/24		hmmpanther:PTHR13076,hmmpanther:PTHR13076:SF5																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	65	52362604	52362604	TGCCCCTTGGGTGCTGGCTTCT	-	1	0	1	0	1	0	0	0	0	2428	1594	55	0		0	CC2D1B	1	52362604	Frame_Shift_Del	DEL	TGCCCCTTGGGTGCTGGCTTCT	C3N-00738_TP	6084458	52362604	196593818	6	21338											
CTH	0	.	GRCh38	chr1	70411462	70411462	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttcctgccacacttccAacatttcgccacgcaggcga	9	9	8	15	3	0	0	0	0	0	0	3	1	2	0	4	2	2	2	4	2	1	3	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.47A>T	p.Gln16Leu	p.Q16L	ENST00000370938	1/12	478	434	44	499	499	0	strelka-varscan-mutect	CTH,missense_variant,p.Gln16Leu,ENST00000411986,NM_001190463.1;CTH,missense_variant,p.Gln16Leu,ENST00000370938,NM_001902.5;CTH,missense_variant,p.Gln16Leu,ENST00000346806,NM_153742.4;CTH,non_coding_transcript_exon_variant,,ENST00000464926,;	T	ENST00000370938	Transcript	missense_variant	191/1805	47/1218	16/405	Q/L	cAa/cTa		1		1	CTH	HGNC	HGNC:2501	protein_coding	YES	CCDS650.1	ENSP00000359976	P32929		UPI00001275DE	NM_001902.5	tolerated(0.16)		1/12		Gene3D:3.40.640.10,PIRSF_domain:PIRSF001434,hmmpanther:PTHR11808,hmmpanther:PTHR11808:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	70411462	70411462	A	T	1	0	0	0	0	1	0	0	0	3817	130	5	4		4	CTH	1	70411462	Missense_Mutation	SNP	A	C3N-00738_TP	18048858	70411462	178544960	7	21339											
EPS8L3	0	.	GRCh38	chr1	109757842	109757842	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatcttctggaagcagtcaAtgtactgtgcctgggtgaga	9	12	13	7	0	3	2	1	2	2	1	3	4	3	3	1	2	3	2	1	2	3	2	rs760225779		C3N-00738_TP	C3N-00738_NB	A	A																c.857T>G	p.Ile286Ser	p.I286S	ENST00000369805	10/19	340	307	33	375	374	1	strelka-varscan-mutect	EPS8L3,missense_variant,p.Ile286Ser,ENST00000369805,NM_139053.2;EPS8L3,missense_variant,p.Ile285Ser,ENST00000361852,NM_001319952.1,NM_024526.3;EPS8L3,missense_variant,p.Ile285Ser,ENST00000361965,NM_133181.3;RP4-735C1.4,intron_variant,,ENST00000431955,;GSTM5,intron_variant,,ENST00000429410,;EPS8L3,downstream_gene_variant,,ENST00000494151,;EPS8L3,downstream_gene_variant,,ENST00000477568,;EPS8L3,3_prime_UTR_variant,,ENST00000472325,;	C	ENST00000369805	Transcript	missense_variant	1087/2325	857/1785	286/594	I/S	aTt/aGt	rs760225779	1		-1	EPS8L3	HGNC	HGNC:21297	protein_coding	YES	CCDS815.1	ENSP00000358820	Q8TE67		UPI00001613C9	NM_139053.2	deleterious(0.01)		10/19		hmmpanther:PTHR12287:SF22,hmmpanther:PTHR12287																	MODERATE	1	SNV	1			1										PASS		rs760225779	.												C	3	2	65	109757842	109757842	A	C	1	0	0	0	0	1	0	0	0	5045	101	4	5		5	EPS8L3	1	109757842	Missense_Mutation	SNP	A	C3N-00738_TP	39346380	109757842	139198580	8	21340											
PIAS3	0	.	GRCh38	chr1	145856627	145856627	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagctccccatagacttcaTagaagggcaatggtttcatg	11	11	10	9	0	2	3	2	1	0	2	3	3	3	3	2	2	1	3	2	2	4	4	rs781818284		C3N-00738_TP	C3N-00738_NB	T	T																c.404A>G	p.Tyr135Cys	p.Y135C	ENST00000393045	2/14	48	44	4	86	86	0	strelka-varscan-mutect	PIAS3,missense_variant,p.Tyr135Cys,ENST00000393045,NM_006099.3;PIAS3,missense_variant,p.Tyr100Cys,ENST00000369298,;PIAS3,missense_variant,p.Tyr126Cys,ENST00000393046,;PIAS3,downstream_gene_variant,,ENST00000463514,;PIAS3,non_coding_transcript_exon_variant,,ENST00000369299,;PIAS3,non_coding_transcript_exon_variant,,ENST00000498436,;PIAS3,non_coding_transcript_exon_variant,,ENST00000484423,;PIAS3,upstream_gene_variant,,ENST00000475261,;	C	ENST00000393045	Transcript	missense_variant	494/2901	404/1887	135/628	Y/C	tAt/tGt	rs781818284,COSM3369256	1		-1	PIAS3	HGNC	HGNC:16861	protein_coding	YES	CCDS72866.1	ENSP00000376765	Q9Y6X2		UPI0000150636	NM_006099.3	deleterious(0)		2/14		PROSITE_profiles:PS51466,hmmpanther:PTHR10782,hmmpanther:PTHR10782:SF10,Pfam_domain:PF14324											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs781818284	.												C	3	2	65	145856627	145856627	T	C	1	0	0	0	0	1	0	0	0	11967	1406	49	5		5	PIAS3	1	145856627	Missense_Mutation	SNP	T	C3N-00738_TP	36098785	145856627	103099795	9	21341											
SV2A	0	.	GRCh38	chr1	149913804	149913804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaatgtctttggccccacGgatgaaagctgcccggtctc	8	9	11	13	2	2	1	0	1	2	0	3	2	2	2	3	3	3	2	3	3	2	1	rs781957523		C3N-00738_TP	C3N-00738_NB	G	G																c.37C>A	p.Arg13Ser	p.R13S	ENST00000369146	2/13	77	71	6	87	87	0	strelka-varscan-mutect	SV2A,missense_variant,p.Arg13Ser,ENST00000369146,NM_014849.4;SV2A,missense_variant,p.Arg13Ser,ENST00000369145,;	T	ENST00000369146	Transcript	missense_variant	528/4416	37/2229	13/742	R/S	Cgt/Agt	rs781957523	1		-1	SV2A	HGNC	HGNC:20566	protein_coding	YES	CCDS940.1	ENSP00000358142	Q7L0J3		UPI000000DAD2	NM_014849.4	deleterious_low_confidence(0.01)		2/13		TIGRFAM_domain:TIGR01299																	MODERATE	1	SNV	1			1										PASS		rs781957523	.												T	3	4	65	149913804	149913804	G	T	1	0	0	0	0	1	0	0	0	15801	1116	39	1		1	SV2A	1	149913804	Missense_Mutation	SNP	G	C3N-00738_TP	4057177	149913804	99042618	10	21342											
TDRKH	0	.	GRCh38	chr1	151776241	151776241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaggtgctgctacaatgtCtcctacatgcacagtcaagt	12	11	8	10	0	2	0	1	0	1	0	3	0	2	0	1	1	5	3	1	1	6	3	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.1072G>C	p.Asp358His	p.D358H	ENST00000368822	8/14	100	92	8	106	106	0	strelka-varscan-mutect	TDRKH,missense_variant,p.Asp358His,ENST00000368822,;TDRKH,missense_variant,p.Asp358His,ENST00000368824,NM_001083965.1;TDRKH,missense_variant,p.Asp358His,ENST00000458431,NM_001083963.1;TDRKH,missense_variant,p.Asp354His,ENST00000368823,;TDRKH,missense_variant,p.Asp313His,ENST00000368825,NM_001083964.1;TDRKH,missense_variant,p.Asp358His,ENST00000368827,NM_006862.3;TDRKH,missense_variant,p.Asp358His,ENST00000440583,;OAZ3,downstream_gene_variant,,ENST00000479764,;OAZ3,downstream_gene_variant,,ENST00000400999,NM_016178.2;OAZ3,downstream_gene_variant,,ENST00000321531,NM_001134939.1;OAZ3,downstream_gene_variant,,ENST00000627780,;OAZ3,downstream_gene_variant,,ENST00000635322,;OAZ3,downstream_gene_variant,,ENST00000453029,NM_001301371.1;TDRKH,downstream_gene_variant,,ENST00000526378,;OAZ3,downstream_gene_variant,,ENST00000635374,;OAZ3,downstream_gene_variant,,ENST00000582415,;TDRKH,downstream_gene_variant,,ENST00000484421,;TDRKH,3_prime_UTR_variant,,ENST00000525790,;TDRKH,3_prime_UTR_variant,,ENST00000526413,;TDRKH,downstream_gene_variant,,ENST00000486986,;TDRKH,downstream_gene_variant,,ENST00000494725,;TDRKH,downstream_gene_variant,,ENST00000530202,;	G	ENST00000368822	Transcript	missense_variant	1706/3093	1072/1686	358/561	D/H	Gac/Cac		1		-1	TDRKH	HGNC	HGNC:11713	protein_coding	YES	CCDS41394.1	ENSP00000357812	Q9Y2W6		UPI0000204267		deleterious(0)		8/14		PROSITE_profiles:PS50304,hmmpanther:PTHR22948,Gene3D:2.30.30.140,Pfam_domain:PF00567,SMART_domains:SM00333,Superfamily_domains:SSF63748																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	65	151776241	151776241	C	G	1	0	0	0	0	1	0	0	0	16147	913	32	4		4	TDRKH	1	151776241	Missense_Mutation	SNP	C	C3N-00738_TP	1862437	151776241	97180181	11	21343											
LINGO4	0	.	GRCh38	chr1	151801970	151801970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcccaaccaggctcccaggGtccagagcctccagagatgg	10	4	12	15	0	0	2	0	0	0	2	3	3	3	2	6	3	3	1	6	3	1	0	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.735C>A	p.Asp245Glu	p.D245E	ENST00000368820	2/2	147	133	14	200	200	0	strelka-varscan-mutect	LINGO4,missense_variant,p.Asp245Glu,ENST00000368820,NM_001004432.3;RORC,downstream_gene_variant,,ENST00000356728,NM_001001523.1;RORC,downstream_gene_variant,,ENST00000318247,NM_005060.3;RP11-98D18.17,downstream_gene_variant,,ENST00000601909,;RORC,downstream_gene_variant,,ENST00000480719,;	T	ENST00000368820	Transcript	missense_variant	1673/3379	735/1782	245/593	D/E	gaC/gaA		1		-1	LINGO4	HGNC	HGNC:31814	protein_coding	YES	CCDS30855.1	ENSP00000357810	Q6UY18		UPI000019993B	NM_001004432.3	tolerated(0.68)		2/2		Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF156,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	151801970	151801970	G	T	1	0	0	0	0	1	0	0	0	8738	1252	44	2		2	LINGO4	1	151801970	Missense_Mutation	SNP	G	C3N-00738_TP	25729	151801970	97154452	12	21344											
FLG2	0	.	GRCh38	chr1	152351449	152351449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgagacccctgagtgcaCttcactgtcactggactcac	8	10	10	13	0	3	2	3	2	0	1	3	4	3	3	2	1	1	1	2	1	0	1	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.6337G>A	p.Val2113Met	p.V2113M	ENST00000388718	3/3	378	347	31	412	411	1	varscan-mutect	FLG2,missense_variant,p.Val2113Met,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,;	T	ENST00000388718	Transcript	missense_variant	6410/9124	6337/7176	2113/2391	V/M	Gtg/Atg		1		-1	FLG2	HGNC	HGNC:33276	protein_coding	YES	CCDS30861.1	ENSP00000373370	Q5D862		UPI00004E1DE5	NM_001014342.2	tolerated(0.07)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	65	152351449	152351449	C	T	1	0	0	0	0	1	0	0	0	5785	565	20	3		3	FLG2	1	152351449	Missense_Mutation	SNP	C	C3N-00738_TP	549479	152351449	96604973	13	21345											
UBAP2L	0	.	GRCh38	chr1	154268921	154268921	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcagcagccgcattctcaGatccttcaccatcacctgca	10	9	5	17	1	4	1	4	0	1	1	6	1	5	1	4	0	3	3	4	0	0	2	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.3135G>A	p.=	p.Q1045Q	ENST00000428931	26/27	261	243	18	255	254	1	strelka-varscan-mutect	UBAP2L,synonymous_variant,p.=,ENST00000271877,NM_001287816.1;UBAP2L,synonymous_variant,p.=,ENST00000428931,NM_014847.3;UBAP2L,synonymous_variant,p.=,ENST00000361546,;UBAP2L,synonymous_variant,p.=,ENST00000433615,;UBAP2L,synonymous_variant,p.=,ENST00000428595,;HAX1,upstream_gene_variant,,ENST00000328703,NM_006118.3;HAX1,upstream_gene_variant,,ENST00000483970,;HAX1,upstream_gene_variant,,ENST00000457918,NM_001018837.1;HAX1,upstream_gene_variant,,ENST00000435087,;HAX1,upstream_gene_variant,,ENST00000532105,;UBAP2L,non_coding_transcript_exon_variant,,ENST00000484819,;UBAP2L,non_coding_transcript_exon_variant,,ENST00000493867,;HAX1,upstream_gene_variant,,ENST00000531435,;HAX1,upstream_gene_variant,,ENST00000471326,;HAX1,upstream_gene_variant,,ENST00000477780,;HAX1,upstream_gene_variant,,ENST00000447768,;HAX1,upstream_gene_variant,,ENST00000492550,;HAX1,upstream_gene_variant,,ENST00000459914,;	A	ENST00000428931	Transcript	synonymous_variant	3302/3988	3135/3264	1045/1087	Q	caG/caA		1		1	UBAP2L	HGNC	HGNC:29877	protein_coding	YES	CCDS1063.1	ENSP00000389445	Q14157		UPI000013E257	NM_014847.3			26/27		hmmpanther:PTHR16308,hmmpanther:PTHR16308:SF18																	LOW		SNV	5			1										PASS		.	.												A	2	1	65	154268921	154268921	G	A	1	0	0	0	0	0	0	0	1	17360	933	33	3		3	UBAP2L	1	154268921	Silent	SNP	G	C3N-00738_TP	1917472	154268921	94687501	14	21346											
AQP10	0	.	GRCh38	chr1	154323751	154323751	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccactcaaccctgcccggGacctgggcccacgtctcttc	5	9	8	19	2	2	0	1	0	1	0	5	1	3	1	5	2	2	0	5	2	1	2	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.652G>T	p.Asp218Tyr	p.D218Y	ENST00000324978	5/6	298	276	22	319	319	0	strelka-varscan-mutect	AQP10,missense_variant,p.Asp218Tyr,ENST00000484864,;AQP10,missense_variant,p.Asp218Tyr,ENST00000324978,NM_080429.2;ATP8B2,upstream_gene_variant,,ENST00000368489,NM_020452.3;ATP8B2,upstream_gene_variant,,ENST00000368487,NM_001005855.1;AQP10,non_coding_transcript_exon_variant,,ENST00000355197,;ATP8B2,upstream_gene_variant,,ENST00000368490,;	T	ENST00000324978	Transcript	missense_variant	692/1791	652/906	218/301	D/Y	Gac/Tac		1		1	AQP10	HGNC	HGNC:16029	protein_coding	YES	CCDS1065.1	ENSP00000318355	Q96PS8		UPI000007028A	NM_080429.2	deleterious(0)		5/6		hmmpanther:PTHR19139:SF138,hmmpanther:PTHR19139,TIGRFAM_domain:TIGR00861,Pfam_domain:PF00230,Gene3D:1.20.1080.10,Superfamily_domains:SSF81338																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	154323751	154323751	G	T	1	0	0	0	0	1	0	0	0	945	1174	41	2		2	AQP10	1	154323751	Missense_Mutation	SNP	G	C3N-00738_TP	54830	154323751	94632671	15	21347											
CCT3	0	.	GRCh38	chr1	156311187	156311187	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggcatcctggaggttgcgTtctacttccttggagaagca	8	12	12	9	1	1	1	0	0	1	1	3	3	3	2	2	4	3	4	2	4	2	5	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.1164A>G	p.=	p.E388E	ENST00000295688	12/14	125	106	19	204	204	0	strelka-varscan-mutect	CCT3,synonymous_variant,p.=,ENST00000295688,NM_005998.4;CCT3,synonymous_variant,p.=,ENST00000472765,;CCT3,synonymous_variant,p.=,ENST00000368259,NM_001008800.2;CCT3,intron_variant,,ENST00000368261,;CCT3,3_prime_UTR_variant,,ENST00000368262,;CCT3,3_prime_UTR_variant,,ENST00000368258,;	C	ENST00000295688	Transcript	synonymous_variant	1445/2150	1164/1638	388/545	E	gaA/gaG		1		-1	CCT3	HGNC	HGNC:1616	protein_coding	YES	CCDS1140.2	ENSP00000295688	P49368		UPI000040EEFE	NM_005998.4			12/14		hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF63,Gene3D:3.30.260.10,TIGRFAM_domain:TIGR02344,Pfam_domain:PF00118,Superfamily_domains:SSF54849,Prints_domain:PR00304																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	65	156311187	156311187	T	C	1	0	0	0	0	0	0	0	1	2655	1722	60	5		5	CCT3	1	156311187	Silent	SNP	T	C3N-00738_TP	1987436	156311187	92645235	16	21348											
FCRL2	0	.	GRCh38	chr1	157770660	157770660	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagggcgccacaagggtcAgcgaatctggaagagaagga	15	3	16	7	2	2	2	1	0	1	2	2	6	2	4	1	4	1	0	1	4	5	0	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.59T>A	p.Leu20Gln	p.L20Q	ENST00000361516	3/12	130	104	26	174	174	0	strelka-varscan-mutect	FCRL2,missense_variant,p.Leu20Gln,ENST00000361516,NM_030764.3;FCRL2,missense_variant,p.Leu20Gln,ENST00000368181,;FCRL2,upstream_gene_variant,,ENST00000469986,;FCRL2,non_coding_transcript_exon_variant,,ENST00000462774,;FCRL2,upstream_gene_variant,,ENST00000368178,;	T	ENST00000361516	Transcript	missense_variant	108/2579	59/1527	20/508	L/Q	cTg/cAg		1		-1	FCRL2	HGNC	HGNC:14875	protein_coding	YES	CCDS1168.1	ENSP00000355157	Q96LA5		UPI000006E1F3	NM_030764.3	deleterious(0)		3/12		hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF61,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	157770660	157770660	A	T	1	0	0	0	0	1	0	0	0	5658	188	7	4		4	FCRL2	1	157770660	Missense_Mutation	SNP	A	C3N-00738_TP	1459473	157770660	91185762	17	21349											
OR10Z1	0	.	GRCh38	chr1	158606526	158606526	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagctccttctctttgccTtgttcctctctctgtatcta	3	19	5	14	0	4	0	0	0	4	0	8	0	6	0	3	0	3	4	3	0	2	6			C3N-00738_TP	C3N-00738_NB	T	T																c.88T>A	p.Leu30Met	p.L30M	ENST00000361284	1/1	275	234	41	316	316	0	strelka-varscan-mutect	OR10Z1,missense_variant,p.Leu30Met,ENST00000361284,NM_001004478.1;SPTA1,downstream_gene_variant,,ENST00000368147,NM_003126.2;SPTA1,downstream_gene_variant,,ENST00000485680,;	A	ENST00000361284	Transcript	missense_variant	88/942	88/942	30/313	L/M	Ttg/Atg	COSM3399845	1		1	OR10Z1	HGNC	HGNC:14996	protein_coding	YES	CCDS30901.1	ENSP00000354707	Q8NGY1	A0A126GV63	UPI000004CA23	NM_001004478.1	tolerated(0.09)		1/1		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE		SNV			1	1										PASS		.	.												A	3	1	65	158606526	158606526	T	A	1	0	0	0	0	1	0	0	0	10999	1606	56	4		4	OR10Z1	1	158606526	Missense_Mutation	SNP	T	C3N-00738_TP	835866	158606526	90349896	18	21350											
SPTA1	0	.	GRCh38	chr1	158634641	158634641	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcattctgcatgaattGcaagtattctagggattctt	10	15	8	8	0	4	1	1	1	3	0	4	2	4	2	0	1	3	4	0	1	4	7	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.5467C>T	p.Gln1823Ter	p.Q1823*	ENST00000368147	39/52	540	482	58	573	573	0	strelka-varscan-mutect	SPTA1,stop_gained,p.Gln1823Ter,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000461624,;SPTA1,downstream_gene_variant,,ENST00000465741,;	A	ENST00000368147	Transcript	stop_gained	5648/7999	5467/7260	1823/2419	Q/*	Caa/Taa		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2			39/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	65	158634641	158634641	G	A	1	0	0	0	0	0	1	0	0	15472	1328	46	3		3	SPTA1	1	158634641	Nonsense_Mutation	SNP	G	C3N-00738_TP	28115	158634641	90321781	19	21351											
ACKR1	0	.	GRCh38	chr1	159205822	159205822	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcactcgcagctctgcccTgtgtagcctgggctactgtg	5	11	12	13	1	1	0	0	0	1	0	2	0	1	0	2	1	5	5	2	1	3	3	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.389T>C	p.Leu130Pro	p.L130P	ENST00000368121	1/1	94	88	6	129	129	0	strelka-varscan-mutect	ACKR1,missense_variant,p.Leu128Pro,ENST00000537147,;ACKR1,missense_variant,p.Leu128Pro,ENST00000368122,NM_002036.3;ACKR1,missense_variant,p.Leu130Pro,ENST00000368121,NM_001122951.2;ACKR1,missense_variant,p.Leu130Pro,ENST00000435307,;CADM3,downstream_gene_variant,,ENST00000368125,NM_001127173.1;CADM3,downstream_gene_variant,,ENST00000368124,NM_021189.3;CADM3-AS1,intron_variant,,ENST00000609696,;CADM3-AS1,upstream_gene_variant,,ENST00000415675,;	C	ENST00000368121	Transcript	missense_variant	564/1240	389/1017	130/338	L/P	cTg/cCg		1		1	ACKR1	HGNC	HGNC:4035	protein_coding	YES	CCDS44252.1	ENSP00000357103	Q16570	Q5Y7A1	UPI000013E1B0	NM_001122951.2	deleterious(0)		1/1		hmmpanther:PTHR14181,Prints_domain:PR01559																	MODERATE		SNV				1										PASS		.	.												C	3	2	65	159205822	159205822	T	C	1	0	0	0	0	1	0	0	0	181	1580	55	5		5	ACKR1	1	159205822	Missense_Mutation	SNP	T	C3N-00738_TP	571181	159205822	89750600	20	21352											
F5	0	.	GRCh38	chr1	169541840	169541840	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccatagagggcaatgtctGattgaggtctgtgggaagag	11	10	15	5	0	2	4	0	2	2	2	3	5	3	5	1	3	0	1	1	3	3	2	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.3250C>T	p.Gln1084Ter	p.Q1084*	ENST00000367797	13/25	191	173	18	316	315	1	strelka-varscan-mutect	F5,stop_gained,p.Gln1089Ter,ENST00000367796,;F5,stop_gained,p.Gln1084Ter,ENST00000367797,NM_000130.4;	A	ENST00000367797	Transcript	stop_gained	3452/7024	3250/6675	1084/2224	Q/*	Cag/Tag		1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4			13/25		PIRSF_domain:PIRSF000354																	HIGH	1	SNV	1			1										PASS		rs1359808137	.												A	4	1	65	169541840	169541840	G	A	1	0	0	0	0	0	1	0	0	5216	1299	45	3		3	F5	1	169541840	Nonsense_Mutation	SNP	G	C3N-00738_TP	10336018	169541840	79414582	21	21353											
TNN	0	.	GRCh38	chr1	175080268	175080268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacctcctcagctactaccCcctggggaaggagctctctg	7	9	9	16	0	2	0	1	0	1	0	4	2	3	2	4	3	5	2	4	3	4	3			C3N-00738_TP	C3N-00738_NB	C	C																c.890C>A	p.Pro297His	p.P297H	ENST00000239462	4/19	396	367	29	446	445	1	strelka-varscan-mutect	TNN,missense_variant,p.Pro297His,ENST00000239462,NM_022093.1;TNN,missense_variant,p.Pro297His,ENST00000621086,;TNN,missense_variant,p.Pro297His,ENST00000622870,;	A	ENST00000239462	Transcript	missense_variant	1003/5008	890/3900	297/1299	P/H	cCc/cAc	COSM3863591	1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1	deleterious(0)		4/19		PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF252,hmmpanther:PTHR19143,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265											1						MODERATE	1	SNV	2		1	1										PASS		rs1249138784	.												A	3	1	65	175080268	175080268	C	A	1	0	0	0	0	1	0	0	0	16796	623	22	2		2	TNN	1	175080268	Missense_Mutation	SNP	C	C3N-00738_TP	5538428	175080268	73876154	22	21354											
BRINP2	0	.	GRCh38	chr1	177255930	177255930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccccagggagtttgcccGttggaaggtgaacaacttgg	8	10	13	10	1	0	1	0	1	0	0	1	3	1	3	3	4	3	2	3	4	3	4	rs770338219		C3N-00738_TP	C3N-00738_NB	G	G																c.281G>T	p.Arg94Leu	p.R94L	ENST00000361539	3/8	143	134	9	164	164	0	strelka-varscan-mutect	BRINP2,missense_variant,p.Arg94Leu,ENST00000361539,NM_021165.3;BRINP2,upstream_gene_variant,,ENST00000478325,;BRINP2,upstream_gene_variant,,ENST00000460161,;	T	ENST00000361539	Transcript	missense_variant	593/3558	281/2352	94/783	R/L	cGt/cTt	rs770338219	1		1	BRINP2	HGNC	HGNC:13746	protein_coding	YES	CCDS1320.1	ENSP00000354481	Q9C0B6		UPI000006DF55	NM_021165.3	deleterious(0)		3/8		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF8,Pfam_domain:PF01823,SMART_domains:SM00457																	MODERATE	1	SNV	1			1										PASS		rs770338219	.												T	3	4	65	177255930	177255930	G	T	1	0	0	0	0	1	0	0	0	1686	1145	40	1		1	BRINP2	1	177255930	Missense_Mutation	SNP	G	C3N-00738_TP	2175662	177255930	71700492	23	21355											
HMCN1	0	.	GRCh38	chr1	186122995	186122995	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggaatatgttattgctGtggacaagcccatcacgtta	13	12	9	7	1	1	0	1	0	0	0	1	2	1	2	1	2	2	3	1	2	7	5			C3N-00738_TP	C3N-00738_NB	G	G																c.12274G>C	p.Val4092Leu	p.V4092L	ENST00000271588	81/107	362	332	30	424	423	1	strelka-varscan-mutect	HMCN1,missense_variant,p.Val4092Leu,ENST00000271588,NM_031935.2;	C	ENST00000271588	Transcript	missense_variant	12503/18208	12274/16908	4092/5635	V/L	Gtg/Ctg	COSM1160881	1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2	tolerated(0.27)		81/107		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF678,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	65	186122995	186122995	G	C	1	0	0	0	0	1	0	0	0	7111	1377	48	4		4	HMCN1	1	186122995	Missense_Mutation	SNP	G	C3N-00738_TP	8867065	186122995	62833427	24	21356											
KCNT2	0	.	GRCh38	chr1	196285699	196285699	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atactgatgctaaacaccctCccagcagcaaaaggcagtcg	14	6	8	13	1	0	1	0	1	0	0	2	1	1	1	2	1	5	4	2	1	5	2	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.2655G>T	p.=	p.G885G	ENST00000294725	23/28	332	293	39	343	343	0	strelka-varscan-mutect	KCNT2,synonymous_variant,p.=,ENST00000367433,NM_001287819.1;KCNT2,synonymous_variant,p.=,ENST00000294725,NM_198503.3;KCNT2,synonymous_variant,p.=,ENST00000609185,NM_001287820.1;KCNT2,3_prime_UTR_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;	A	ENST00000294725	Transcript	synonymous_variant	3571/4409	2655/3408	885/1135	G	ggG/ggT		1		-1	KCNT2	HGNC	HGNC:18866	protein_coding	YES	CCDS1384.1	ENSP00000294725	Q6UVM3	A9LNM6	UPI00001E0966	NM_198503.3			23/28		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9																	LOW	1	SNV	1			1										PASS		rs1300255005	.												A	2	1	65	196285699	196285699	C	A	1	0	0	0	0	0	0	0	1	8008	842	30	2		2	KCNT2	1	196285699	Silent	SNP	C	C3N-00738_TP	10162704	196285699	52670723	25	21357											
GPR25	0	.	GRCh38	chr1	200873824	200873824	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgcccttcagcgccCtgcgggccgtcttccacctg	2	9	11	19	3	2	0	1	0	1	0	3	0	3	0	6	2	3	1	6	2	0	2	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.787C>T	p.=	p.L263L	ENST00000304244	1/1	245	225	20	265	265	0	strelka-varscan-mutect	GPR25,synonymous_variant,p.=,ENST00000304244,NM_005298.3;	T	ENST00000304244	Transcript	synonymous_variant	870/1224	787/1086	263/361	L	Ctg/Ttg		1		1	GPR25	HGNC	HGNC:4480	protein_coding	YES	CCDS1405.1	ENSP00000301917	O00155		UPI000013E957	NM_005298.3			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF9,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												T	2	4	65	200873824	200873824	C	T	1	0	0	0	0	0	0	0	1	6567	680	24	3		3	GPR25	1	200873824	Silent	SNP	C	C3N-00738_TP	4588125	200873824	48082598	26	21358											
OR2AK2	0	.	GRCh38	chr1	247965446	247965446	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttccaatatggctggataAactctcttctctttgtcgtc	7	18	6	10	1	2	0	0	0	2	0	7	1	3	1	1	2	1	1	1	2	4	6			C3N-00738_TP	C3N-00738_NB	A	A																c.115A>T	p.Asn39Tyr	p.N39Y	ENST00000366480	1/1	207	184	23	241	240	1	strelka-varscan-mutect	OR2AK2,missense_variant,p.Asn39Tyr,ENST00000366480,NM_001004491.1;	T	ENST00000366480	Transcript	missense_variant	214/1107	115/1008	39/335	N/Y	Aac/Tac	COSM4030647	1		1	OR2AK2	HGNC	HGNC:19569	protein_coding	YES	CCDS31102.1	ENSP00000355436	Q8NG84		UPI00003B2873	NM_001004491.1	deleterious(0.02)		1/1		hmmpanther:PTHR26453:SF299,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	65	247965446	247965446	A	T	1	0	0	0	0	1	0	0	0	11064	14	1	4		4	OR2AK2	1	247965446	Missense_Mutation	SNP	A	C3N-00738_TP	47091622	247965446	990976	27	21359											
ALLC	0	.	GRCh38	chr2	3683028	3683028	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccacaactattttcttgtCaattcccagcagagatggac	11	11	8	11	0	2	1	1	0	1	1	3	3	3	2	2	2	2	1	2	2	3	5	rs756013424		C3N-00738_TP	C3N-00738_NB	C	C																c.465C>G	p.=	p.V155V	ENST00000252505	7/12	259	240	19	256	255	1	strelka-varscan-mutect	ALLC,synonymous_variant,p.=,ENST00000252505,NM_018436.3;GAPDHP48,downstream_gene_variant,,ENST00000436626,;	G	ENST00000252505	Transcript	synonymous_variant	627/1446	465/1176	155/391	V	gtC/gtG	rs756013424	1		1	ALLC	HGNC	HGNC:17377	protein_coding	YES	CCDS46223.1	ENSP00000252505		B4DY77	UPI000050BBEF	NM_018436.3			7/12		hmmpanther:PTHR12045,TIGRFAM_domain:TIGR02961,PIRSF_domain:PIRSF016516,Pfam_domain:PF03561,Gene3D:2.60.120.260,Superfamily_domains:SSF49785																	LOW	1	SNV	1			1										PASS		rs756013424	.												G	2	3	65	3683028	3683028	C	G	1	0	0	0	0	0	0	0	1	634	813	29	4		4	ALLC	2	3683028	Silent	SNP	C	C3N-00738_TP		3683028	238510501	28	21360											
PLB1	0	.	GRCh38	chr2	28541762	28541762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgagcaggagtccttcaCcgtggttttccagcctttct	6	13	10	12	1	2	1	1	1	1	0	4	2	4	2	4	2	2	2	4	2	0	4	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.830C>A	p.Thr277Asn	p.T277N	ENST00000327757	13/58	293	260	33	294	294	0	strelka-varscan-mutect	PLB1,missense_variant,p.Thr288Asn,ENST00000422425,NM_001170585.1;PLB1,missense_variant,p.Thr277Asn,ENST00000327757,NM_153021.4;PLB1,missense_variant,p.Thr287Asn,ENST00000404858,;PLB1,downstream_gene_variant,,ENST00000416713,;	A	ENST00000327757	Transcript	missense_variant	874/5107	830/4377	277/1458	T/N	aCc/aAc		1		1	PLB1	HGNC	HGNC:30041	protein_coding	YES	CCDS33168.1	ENSP00000330442	Q6P1J6		UPI0000D6117C	NM_153021.4	deleterious(0.01)		13/58		hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF31																	MODERATE	1	SNV	1			1										PASS		rs1202413678	.												A	3	1	65	28541762	28541762	C	A	1	0	0	0	0	1	0	0	0	12118	507	18	2		2	PLB1	2	28541762	Missense_Mutation	SNP	C	C3N-00738_TP	24858734	28541762	213651767	29	21361											
PSME4	0	.	GRCh38	chr2	53932075	53932075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaacactgtttggcaacCgctgaagtagtttcattaac	13	12	7	9	1	1	1	1	1	0	0	1	1	1	1	1	1	4	5	1	1	6	5	rs775712608		C3N-00738_TP	C3N-00738_NB	C	C																c.1076G>T	p.Arg359Leu	p.R359L	ENST00000404125	10/47	101	93	8	163	163	0	strelka-varscan-mutect	PSME4,missense_variant,p.Arg359Leu,ENST00000404125,NM_014614.2;PSME4,downstream_gene_variant,,ENST00000481518,;PSME4,missense_variant,p.Arg359Leu,ENST00000389993,;PSME4,non_coding_transcript_exon_variant,,ENST00000475694,;	A	ENST00000404125	Transcript	missense_variant	1132/7099	1076/5532	359/1843	R/L	cGg/cTg	rs775712608	1		-1	PSME4	HGNC	HGNC:20635	protein_coding	YES	CCDS33197.2	ENSP00000384211	Q14997		UPI0000F3BE4A	NM_014614.2	deleterious(0.01)		10/47		Pfam_domain:PF16507,hmmpanther:PTHR32170,hmmpanther:PTHR32170:SF3,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs775712608	.												A	3	1	65	53932075	53932075	C	A	1	0	0	0	0	1	0	0	0	12860	652	23	1		1	PSME4	2	53932075	Missense_Mutation	SNP	C	C3N-00738_TP	25390313	53932075	188261454	30	21362											
RFX8	0	.	GRCh38	chr2	101402643	101402643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagtcgggtcatctggtagCatttccttgacagtccccat	8	12	10	11	1	2	2	1	1	1	1	5	2	4	2	3	2	1	2	3	2	1	3	rs746630582,rs758513252		C3N-00738_TP	C3N-00738_NB	C	C																c.1038G>T	p.Met346Ile	p.M346I	ENST00000428343	11/12	295	269	26	365	362	3	strelka-varscan-mutect	RFX8,missense_variant,p.Met346Ile,ENST00000428343,NM_001145664.1;RFX8,3_prime_UTR_variant,,ENST00000481179,;	A	ENST00000428343	Transcript	missense_variant	1158/1686	1038/1422	346/473	M/I	atG/atT	rs746630582,rs758513252	1		-1	RFX8	HGNC	HGNC:37253	protein_coding	YES	CCDS46376.1	ENSP00000401536	Q6ZV50		UPI0001AE76D5	NM_001145664.1	tolerated(0.29)		11/12		hmmpanther:PTHR12619:SF24,hmmpanther:PTHR12619																	MODERATE	1	SNV	2			1										PASS		rs758513252	.												A	3	1	65	101402643	101402643	C	A	1	0	0	0	0	1	0	0	0	13443	710	25	2		2	RFX8	2	101402643	Missense_Mutation	SNP	C	C3N-00738_TP	47470568	101402643	140790886	31	21363											
SMPD4	0	.	GRCh38	chr2	130153765	130153765	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgtcttccggacactGtcttgccccatctcgtccag	5	13	7	16	2	5	0	1	0	4	0	8	1	7	1	4	1	1	0	4	1	0	2	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.1947C>T	p.=	p.D649D	ENST00000409031	17/20	295	267	28	393	393	0	varscan-mutect	SMPD4,synonymous_variant,p.=,ENST00000409031,NM_017951.4;SMPD4,synonymous_variant,p.=,ENST00000351288,NM_017751.4;SMPD4,synonymous_variant,p.=,ENST00000431183,NM_001171083.2;SMPD4,synonymous_variant,p.=,ENST00000439886,;SMPD4,synonymous_variant,p.=,ENST00000457039,;SMPD4,synonymous_variant,p.=,ENST00000449159,;SMPD4,downstream_gene_variant,,ENST00000430682,;SMPD4,downstream_gene_variant,,ENST00000451542,;SMPD4,downstream_gene_variant,,ENST00000473720,;SMPD4,downstream_gene_variant,,ENST00000455548,;SMPD4,3_prime_UTR_variant,,ENST00000412570,;SMPD4,3_prime_UTR_variant,,ENST00000454468,;SMPD4,3_prime_UTR_variant,,ENST00000433118,;SMPD4,non_coding_transcript_exon_variant,,ENST00000482171,;SMPD4,non_coding_transcript_exon_variant,,ENST00000491128,;SMPD4,non_coding_transcript_exon_variant,,ENST00000491319,;SMPD4,downstream_gene_variant,,ENST00000435455,;SMPD4,downstream_gene_variant,,ENST00000461187,;SMPD4,downstream_gene_variant,,ENST00000439029,;	A	ENST00000409031	Transcript	synonymous_variant	3096/4896	1947/2601	649/866	D	gaC/gaT		1		-1	SMPD4	HGNC	HGNC:32949	protein_coding	YES	CCDS42751.1	ENSP00000386531		B1PBA3	UPI000036FC5A	NM_017951.4			17/20		Pfam_domain:PF14724,hmmpanther:PTHR12988,hmmpanther:PTHR12988:SF7																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	65	130153765	130153765	G	A	1	0	0	0	0	0	0	0	1	15128	1368	48	3		3	SMPD4	2	130153765	Silent	SNP	G	C3N-00738_TP	28751122	130153765	112039764	32	21364											
SLC4A10	0	.	GRCh38	chr2	161904176	161904176	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaagcaactgaagggcgtAtagtatgtattatgcttttc	12	13	11	5	1	0	2	0	1	0	1	1	3	0	2	0	1	3	5	0	1	8	7	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.1615A>C	p.Ile539Leu	p.I539L	ENST00000446997	13/27	105	99	6	128	128	0	strelka-varscan-mutect	SLC4A10,missense_variant,p.Ile520Leu,ENST00000375514,NM_001178016.1;SLC4A10,missense_variant,p.Ile509Leu,ENST00000415876,NM_022058.3;SLC4A10,missense_variant,p.Ile539Leu,ENST00000446997,NM_001178015.1;SLC4A10,missense_variant,p.Ile509Leu,ENST00000272716,;SLC4A10,missense_variant,p.Ile539Leu,ENST00000421911,;SLC4A10,downstream_gene_variant,,ENST00000493021,;SLC4A10,splice_region_variant,,ENST00000446228,;	C	ENST00000446997	Transcript	missense_variant,splice_region_variant	1708/5551	1615/3357	539/1118	I/L	Ata/Cta		1		1	SLC4A10	HGNC	HGNC:13811	protein_coding	YES	CCDS54411.1	ENSP00000393066	Q6U841		UPI00001D4707	NM_001178015.1	tolerated(0.36)		13/27		hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	65	161904176	161904176	A	C	1	0	0	0	0	1	0	0	0	14928	463	16	5		5	SLC4A10	2	161904176	Missense_Mutation	SNP	A	C3N-00738_TP	31750411	161904176	80289353	33	21365											
SP3	0	.	GRCh38	chr2	173956150	173956151	+	Frame_Shift_Ins	INS	-	-	AA																															gactagattaccagcttcatINScttttatagttgtaggtgtg																								novel		C3N-00738_TP	C3N-00738_NB	-	-																c.361_362insTT	p.Asp121ValfsTer7	p.D121Vfs*7	ENST00000310015	4/7	110	102	8	190	190	0	sindel-pindel	SP3,frameshift_variant,p.Asp121ValfsTer7,ENST00000310015,NM_003111.4,NM_001172712.1;SP3,frameshift_variant,p.Asp53ValfsTer7,ENST00000418194,NM_001017371.4;SP3,frameshift_variant,p.Asp78ValfsTer7,ENST00000416195,;SP3,non_coding_transcript_exon_variant,,ENST00000483084,;SP3,non_coding_transcript_exon_variant,,ENST00000462904,;SP3,non_coding_transcript_exon_variant,,ENST00000490182,;	AA	ENST00000310015	Transcript	frameshift_variant	892-893/6359	361-362/2346	121/781	D/VX	gat/gTTat		1		-1	SP3	HGNC	HGNC:11208	protein_coding	YES	CCDS2254.1	ENSP00000310301	Q02447		UPI000019B3E0	NM_003111.4,NM_001172712.1			4/7		hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF3																	HIGH	1	insertion	1			1										PASS		.	.												AA	7	5	65	173956150	173956150	-	AA	1	0	1	1	0	0	0	0	0	15291	1435	50	0		0	SP3	2	173956150	Frame_Shift_Ins	INS	-	C3N-00738_TP	12051974	173956150	68237379	34	21366											
TTN	0	.	GRCh38	chr2	178756265	178756265	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgttgtcctctctccacaGtcattgtgtacaatgcagct	8	13	8	12	1	2	0	1	0	1	0	5	1	4	0	2	0	3	4	2	0	2	3	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.11211C>T	p.=	p.D3737D	ENST00000589042	46/363	116	105	11	169	168	1	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000615779,NM_001256850.1;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000360870,NM_133379.4;TTN,intron_variant,,ENST00000634225,;TTN-AS1,splice_acceptor_variant,,ENST00000578746,;TTN-AS1,splice_acceptor_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000627661,;TTN-AS1,upstream_gene_variant,,ENST00000610005,;	A	ENST00000589042	Transcript	synonymous_variant	11436/109224	11211/107976	3737/35991	D	gaC/gaT		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			46/363		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	65	178756265	178756265	G	A	1	0	0	0	0	0	0	0	1	17245	1020	36	3		3	TTN	2	178756265	Silent	SNP	G	C3N-00738_TP	4800115	178756265	63437264	35	21367											
FAM117B	0	.	GRCh38	chr2	202765506	202765506	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaaaaacaaggtgaatttCattcctaaaagtggatctgc	16	10	8	7	0	2	1	1	1	1	0	3	3	3	2	1	2	2	0	1	2	6	3	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.1512C>T	p.=	p.F504F	ENST00000392238	8/8	223	200	23	313	313	0	strelka-varscan-mutect	FAM117B,synonymous_variant,p.=,ENST00000392238,NM_173511.3;	T	ENST00000392238	Transcript	synonymous_variant	1512/5763	1512/1770	504/589	F	ttC/ttT		1		1	FAM117B	HGNC	HGNC:14440	protein_coding	YES	CCDS33362.2	ENSP00000376071	Q6P1L5		UPI00015B3B88	NM_173511.3			8/8		Pfam_domain:PF15388,hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF6																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	65	202765506	202765506	C	T	1	0	0	0	0	0	0	0	1	5269	825	29	3		3	FAM117B	2	202765506	Silent	SNP	C	C3N-00738_TP	24009241	202765506	39428023	36	21368											
FASTKD2	0	.	GRCh38	chr2	206770187	206770187	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgttcatgttctacgaacgGgattcaggtgagaactctct	10	13	10	8	2	4	1	2	1	2	1	5	4	4	2	0	2	3	2	0	2	3	4	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.874G>T	p.Gly292Ter	p.G292*	ENST00000236980	3/12	413	373	40	519	519	0	strelka-varscan-mutect	FASTKD2,stop_gained,p.Gly292Ter,ENST00000236980,NM_014929.3;FASTKD2,stop_gained,p.Gly292Ter,ENST00000402774,NM_001136193.1,NM_001136194.1;FASTKD2,stop_gained,p.Gly292Ter,ENST00000403094,;MDH1B,upstream_gene_variant,,ENST00000374412,NM_001039845.2;MDH1B,upstream_gene_variant,,ENST00000454776,NM_001282940.1;MDH1B,upstream_gene_variant,,ENST00000449792,;FASTKD2,downstream_gene_variant,,ENST00000418289,;FASTKD2,non_coding_transcript_exon_variant,,ENST00000487777,;MDH1B,upstream_gene_variant,,ENST00000432911,;MDH1B,upstream_gene_variant,,ENST00000436472,;MDH1B,upstream_gene_variant,,ENST00000471988,;	T	ENST00000236980	Transcript	stop_gained	1222/3188	874/2133	292/710	G/*	Gga/Tga		1		1	FASTKD2	HGNC	HGNC:29160	protein_coding	YES	CCDS2371.1	ENSP00000236980	Q9NYY8	A0A024R419	UPI0000073E9F	NM_014929.3			3/12		hmmpanther:PTHR21228,hmmpanther:PTHR21228:SF1																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	65	206770187	206770187	G	T	1	0	0	0	0	0	1	0	0	5546	1233	43	2		2	FASTKD2	2	206770187	Nonsense_Mutation	SNP	G	C3N-00738_TP	4004681	206770187	35423342	37	21369											
DOCK10	0	.	GRCh38	chr2	224778190	224778190	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctccaaatttatctgcaTagagcttgagtaatctttgg	10	15	8	8	0	2	2	0	1	2	1	3	2	3	2	1	1	3	4	1	1	4	6	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.5750A>T	p.Tyr1917Phe	p.Y1917F	ENST00000258390	51/56	251	227	24	273	273	0	strelka-varscan-mutect	DOCK10,missense_variant,p.Tyr1911Phe,ENST00000409592,NM_001290263.1;DOCK10,missense_variant,p.Tyr1917Phe,ENST00000258390,NM_014689.2;DOCK10,missense_variant,p.Tyr67Phe,ENST00000535663,;	A	ENST00000258390	Transcript	missense_variant	5818/7260	5750/6561	1917/2186	Y/F	tAt/tTt		1		-1	DOCK10	HGNC	HGNC:23479	protein_coding	YES	CCDS46528.1	ENSP00000258390	Q96BY6		UPI000021D2A7	NM_014689.2	deleterious(0.03)		51/56		Pfam_domain:PF06920,PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF71																	MODERATE	1	SNV	5			1										PASS		rs1422304992	.												A	3	1	65	224778190	224778190	T	A	1	0	0	0	0	1	0	0	0	4500	1406	49	4		4	DOCK10	2	224778190	Missense_Mutation	SNP	T	C3N-00738_TP	18008003	224778190	17415339	38	21370											
NEU2	0	.	GRCh38	chr2	233034586	233034586	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtgccaggtggccgaagtCgagactggggagcagagggt	9	5	20	7	2	0	2	0	0	0	2	1	6	0	3	2	5	2	1	2	5	1	0	rs540432557		C3N-00738_TP	C3N-00738_NB	C	C																c.672C>T	p.=	p.V224V	ENST00000233840	2/2	111	97	14	149	149	0	strelka-varscan-mutect	NEU2,synonymous_variant,p.=,ENST00000233840,NM_005383.2;	T	ENST00000233840	Transcript	synonymous_variant	672/1143	672/1143	224/380	V	gtC/gtT	rs540432557,COSM1259015	1		1	NEU2	HGNC	HGNC:7759	protein_coding	YES	CCDS2501.1	ENSP00000233840	Q9Y3R4		UPI000013C98F	NM_005383.2			2/2		hmmpanther:PTHR10628:SF6,hmmpanther:PTHR10628,Gene3D:2.120.10.10,Pfam_domain:PF13088,Superfamily_domains:SSF50939											0,1						LOW	1	SNV	1		0,1	1										PASS		rs540432557	.												T	2	4	65	233034586	233034586	C	T	1	0	0	0	0	0	0	0	1	10377	871	31	1		1	NEU2	2	233034586	Silent	SNP	C	C3N-00738_TP	8256396	233034586	9158943	39	21371											
GBX2	0	.	GRCh38	chr2	236167776	236167776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctgcagcgcggcctgggGcagcgcgggcggcggcggcg	2	3	23	13	8	0	0	0	0	0	0	0	0	0	0	1	8	3	3	1	8	0	0	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.196C>G	p.Pro66Ala	p.P66A	ENST00000306318	1/2	103	94	9	88	88	0	strelka-varscan-mutect	GBX2,missense_variant,p.Pro66Ala,ENST00000306318,NM_001485.3;GBX2,missense_variant,p.Pro66Ala,ENST00000551105,NM_001301687.1;AC079135.1,intron_variant,,ENST00000483218,;AC079135.1,intron_variant,,ENST00000415226,;GBX2,upstream_gene_variant,,ENST00000465889,;	C	ENST00000306318	Transcript	missense_variant	594/2123	196/1047	66/348	P/A	Ccc/Gcc		1		-1	GBX2	HGNC	HGNC:4186	protein_coding	YES	CCDS2515.1	ENSP00000302251	P52951		UPI000012B273	NM_001485.3	tolerated(0.78)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24334,hmmpanther:PTHR24334:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	65	236167776	236167776	G	C	1	0	0	0	0	1	0	0	0	6151	1203	42	4		4	GBX2	2	236167776	Missense_Mutation	SNP	G	C3N-00738_TP	3133190	236167776	6025753	40	21372											
MLH1	0	.	GRCh38	chr3	37020358	37020358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttaatgtgcaccccacaaaGcatgaagttcacttcctgca	12	10	7	12	0	1	1	1	1	0	0	2	1	2	1	3	0	3	5	3	0	3	3	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.933G>C	p.Lys311Asn	p.K311N	ENST00000231790	11/19	264	246	18	304	304	0	strelka-varscan-mutect	MLH1,missense_variant,p.Lys311Asn,ENST00000231790,NM_000249.3;MLH1,missense_variant,p.Lys70Asn,ENST00000458205,NM_001258274.1;MLH1,missense_variant,p.Lys70Asn,ENST00000536378,NM_001258273.1;MLH1,missense_variant,p.Lys213Asn,ENST00000435176,NM_001167617.1;MLH1,missense_variant,p.Lys70Asn,ENST00000539477,NM_001167619.1;MLH1,missense_variant,p.Lys70Asn,ENST00000455445,NM_001167618.1;MLH1,missense_variant,p.Lys303Asn,ENST00000456676,NM_001258271.1;MLH1,missense_variant,p.Lys70Asn,ENST00000441265,;MLH1,3_prime_UTR_variant,,ENST00000447829,;MLH1,intron_variant,,ENST00000413212,;MLH1,intron_variant,,ENST00000458009,;RPL29P11,upstream_gene_variant,,ENST00000494408,;	C	ENST00000231790	Transcript	missense_variant	1149/2752	933/2271	311/756	K/N	aaG/aaC		1		1	MLH1	HGNC	HGNC:7127	protein_coding	YES	CCDS2663.1	ENSP00000231790	P40692		UPI0000000C7E	NM_000249.3	deleterious(0)		11/19		Gene3D:3.30.230.10,Pfam_domain:PF01119,hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF40,SMART_domains:SM01340,Superfamily_domains:SSF54211,TIGRFAM_domain:TIGR00585																	MODERATE	1	SNV	1			1										PASS		rs876660775	.												C	3	2	65	37020358	37020358	G	C	1	0	0	0	0	1	0	0	0	9584	962	34	4		4	MLH1	3	37020358	Missense_Mutation	SNP	G	C3N-00738_TP		37020358	161275201	41	21373											
EXOG	0	.	GRCh38	chr3	38497713	38497713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacactaatcacgctttgtCttatgatcaggcaaagcggg	11	12	9	9	2	3	1	2	1	1	0	3	1	3	1	0	2	2	2	0	2	4	4	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.248C>G	p.Ser83Cys	p.S83C	ENST00000287675	2/6	220	197	23	269	269	0	strelka-varscan-mutect	EXOG,missense_variant,p.Ser83Cys,ENST00000287675,NM_005107.3;EXOG,missense_variant,p.Ser46Cys,ENST00000453767,;EXOG,intron_variant,,ENST00000422077,NM_001145464.1;ACVR2B,downstream_gene_variant,,ENST00000352511,NM_001106.3;EXOG,downstream_gene_variant,,ENST00000630638,;EXOG,missense_variant,p.Ser83Cys,ENST00000457367,;EXOG,missense_variant,p.Ser83Cys,ENST00000431472,;EXOG,3_prime_UTR_variant,,ENST00000447573,;EXOG,3_prime_UTR_variant,,ENST00000443942,;EXOG,non_coding_transcript_exon_variant,,ENST00000489813,;EXOG,intron_variant,,ENST00000474071,;EXOG,intron_variant,,ENST00000436414,;EXOG,intron_variant,,ENST00000454803,;EXOG,intron_variant,,ENST00000412107,;EXOG,intron_variant,,ENST00000438992,;EXOG,intron_variant,,ENST00000450732,;EXOG,intron_variant,,ENST00000470291,;EXOG,upstream_gene_variant,,ENST00000483749,;	G	ENST00000287675	Transcript	missense_variant	344/2792	248/1107	83/368	S/C	tCt/tGt		1		1	EXOG	HGNC	HGNC:3347	protein_coding	YES	CCDS2680.1	ENSP00000287675	Q9Y2C4		UPI00001AEB05	NM_005107.3	tolerated(0.1)		2/6		Gene3D:1g8tA00,Pfam_domain:PF01223,hmmpanther:PTHR13966,SMART_domains:SM00477,SMART_domains:SM00892,Superfamily_domains:SSF54060																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	65	38497713	38497713	C	G	1	0	0	0	0	1	0	0	0	5180	913	32	4		4	EXOG	3	38497713	Missense_Mutation	SNP	C	C3N-00738_TP	1477355	38497713	159797846	42	21374											
RTP3	0	.	GRCh38	chr3	46498128	46498128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgcgggaggtgaagccatgGcacaggtggaccctgagacc	10	5	16	10	1	0	2	0	2	0	1	0	5	0	4	3	5	2	1	3	5	1	0	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.66G>T	p.Trp22Cys	p.W22C	ENST00000296142	1/2	284	247	37	349	349	0	strelka-varscan-mutect	RTP3,missense_variant,p.Trp22Cys,ENST00000296142,NM_031440.1;	T	ENST00000296142	Transcript	missense_variant	638/1321	66/699	22/232	W/C	tgG/tgT		1		1	RTP3	HGNC	HGNC:15572	protein_coding	YES	CCDS2740.1	ENSP00000296142	Q9BQQ7		UPI000005033A	NM_031440.1	tolerated(0.07)		1/2		hmmpanther:PTHR14402,hmmpanther:PTHR14402:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	46498128	46498128	G	T	1	0	0	0	0	1	0	0	0	13995	1212	42	2		2	RTP3	3	46498128	Missense_Mutation	SNP	G	C3N-00738_TP	8000415	46498128	151797431	43	21375											
CELSR3	0	.	GRCh38	chr3	48651419	48651419	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaacctttgtgaacatcAcagttgcaggggccacaggt	12	9	10	10	0	2	1	2	1	0	0	2	1	2	1	2	3	3	2	2	3	3	2	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.6126T>C	p.=	p.C2042C	ENST00000164024	14/35	226	213	13	181	181	0	strelka-varscan-mutect	CELSR3,synonymous_variant,p.=,ENST00000164024,NM_001407.2;	G	ENST00000164024	Transcript	synonymous_variant	6407/11956	6126/9939	2042/3312	C	tgT/tgC		1		-1	CELSR3	HGNC	HGNC:3230	protein_coding	YES	CCDS2775.1	ENSP00000164024	Q9NYQ7		UPI00001AE5A6	NM_001407.2			14/35		Gene3D:2gy5A03,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	65	48651419	48651419	A	G	1	0	0	0	0	0	0	0	1	2930	157	6	5		5	CELSR3	3	48651419	Silent	SNP	A	C3N-00738_TP	2153291	48651419	149644140	44	21376											
ABI3BP	0	.	GRCh38	chr3	100864020	100864020	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctagagtgctcagtggcaAttcaaactgaggtattagaa	14	10	10	7	0	2	3	2	1	0	2	2	3	2	3	1	2	2	3	1	2	6	4	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.1141T>C	p.=	p.L381L	ENST00000471714	12/67	263	242	21	269	269	0	strelka-varscan-mutect	ABI3BP,synonymous_variant,p.=,ENST00000471714,;ABI3BP,synonymous_variant,p.=,ENST00000495063,;ABI3BP,synonymous_variant,p.=,ENST00000483129,;ABI3BP,intron_variant,,ENST00000284322,NM_015429.3;ABI3BP,intron_variant,,ENST00000533855,;ABI3BP,intron_variant,,ENST00000528305,;ABI3BP,upstream_gene_variant,,ENST00000459682,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000475896,;	G	ENST00000471714	Transcript	synonymous_variant	1251/6783	1141/5334	381/1777	L	Ttg/Ctg		1		-1	ABI3BP	HGNC	HGNC:17265	protein_coding			ENSP00000420524		D3YTG3	UPI00004225FE				12/67		hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF10																	LOW		SNV	5			1										PASS		.	.												G	2	3	65	100864020	100864020	A	G	1	0	0	0	0	0	0	0	1	101	98	4	5		5	ABI3BP	3	100864020	Silent	SNP	A	C3N-00738_TP	52212601	100864020	97431539	45	21377											
ATP6V1A	0	.	GRCh38	chr3	113795093	113795093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttcatttttcagataGtggatatccagcctatcttg	8	19	6	8	0	4	1	2	0	2	1	5	2	5	2	2	1	1	0	2	1	3	9	rs777475410		C3N-00738_TP	C3N-00738_NB	G	G																c.1115G>T	p.Ser372Ile	p.S372I	ENST00000273398	10/15	146	137	9	234	234	0	strelka-varscan-mutect	ATP6V1A,missense_variant,p.Ser372Ile,ENST00000273398,NM_001690.3;ATP6V1A,3_prime_UTR_variant,,ENST00000470455,;	T	ENST00000273398	Transcript	missense_variant	1223/4591	1115/1854	372/617	S/I	aGt/aTt	rs777475410	1		1	ATP6V1A	HGNC	HGNC:851	protein_coding	YES	CCDS2976.1	ENSP00000273398	P38606		UPI000013809A	NM_001690.3	deleterious(0.01)		10/15		HAMAP:MF_00309,hmmpanther:PTHR15184,hmmpanther:PTHR15184:SF51,TIGRFAM_domain:TIGR01042,Pfam_domain:PF00006,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs777475410	.												T	3	4	65	113795093	113795093	G	T	1	0	0	0	0	1	0	0	0	1330	1043	36	2		2	ATP6V1A	3	113795093	Missense_Mutation	SNP	G	C3N-00738_TP	12931073	113795093	84500466	46	21378											
WDR49	0	.	GRCh38	chr3	167500264	167500264	+	Frame_Shift_Del	DEL	C	C	-																															tttattcacttcaggcagctCttccagggctccaatgttta																										C3N-00738_TP	C3N-00738_NB	C	C																c.1864delG	p.Glu622SerfsTer5	p.E622Sfs*5	ENST00000308378	14/15	210	190	20	283	283	0	sindel-varindel	WDR49,frameshift_variant,p.Glu622SerfsTer5,ENST00000308378,NM_178824.3;WDR49,frameshift_variant,p.Glu599SerfsTer5,ENST00000472600,;WDR49,intron_variant,,ENST00000479765,;WDR49,non_coding_transcript_exon_variant,,ENST00000476376,;	-	ENST00000308378	Transcript	frameshift_variant	2170/2594	1864/2094	622/697	E/X	Gag/ag	COSM1693745,COSM1693746	1		-1	WDR49	HGNC	HGNC:26587	protein_coding	YES	CCDS3201.1	ENSP00000311343	Q8IV35		UPI00000746AD	NM_178824.3			14/15													1,1						HIGH	1	deletion	1		1,1	1										PASS		.	.												-	7	5	65	167500264	167500264	C	-	1	0	1	0	1	0	0	0	0	17862	922	32	0		0	WDR49	3	167500264	Frame_Shift_Del	DEL	C	C3N-00738_TP	53705171	167500264	30795295	47	21379	454	2									
WDR49	0	.	GRCh38	chr3	167500265	167500265	+	Missense_Mutation	SNP	T	T	A																															ttattcacttcaggcagctcTtccagggctccaatgtttaa																								novel		C3N-00738_TP	C3N-00738_NB	T	T																c.1863A>T	p.Glu621Asp	p.E621D	ENST00000308378	14/15	233	210	23	279	279	0	strelka-mutect	WDR49,missense_variant,p.Glu621Asp,ENST00000308378,NM_178824.3;WDR49,missense_variant,p.Glu598Asp,ENST00000472600,;WDR49,intron_variant,,ENST00000479765,;WDR49,non_coding_transcript_exon_variant,,ENST00000476376,;	A	ENST00000308378	Transcript	missense_variant	2169/2594	1863/2094	621/697	E/D	gaA/gaT		1		-1	WDR49	HGNC	HGNC:26587	protein_coding	YES	CCDS3201.1	ENSP00000311343	Q8IV35		UPI00000746AD	NM_178824.3	tolerated(0.67)		14/15																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	65	167500265	167500265	T	A	1	0	0	0	0	1	0	0	0	17862	1606	56	4		4	WDR49	3	167500265	Missense_Mutation	SNP	T	C3N-00738_TP	1	167500265	30795294	48	21380	454	2									
RUBCN	0	.	GRCh38	chr3	197705127	197705128	+	Frame_Shift_Ins	INS	-	-	C																															gctgagtggggactgagccaINSccggatgtctttcacgaact																								novel		C3N-00738_TP	C3N-00738_NB	-	-																c.267dupG	p.Trp90ValfsTer25	p.W90Vfs*25	ENST00000296343	3/20	417	381	36	464	464	0	varindel-pindel	RUBCN,frameshift_variant,p.Trp30ValfsTer25,ENST00000273582,NM_001145642.3;RUBCN,frameshift_variant,p.Trp69ValfsTer25,ENST00000413360,;RUBCN,frameshift_variant,p.Trp90ValfsTer25,ENST00000296343,NM_014687.2;RUBCN,frameshift_variant,p.Trp90ValfsTer25,ENST00000449205,;RUBCN,5_prime_UTR_variant,,ENST00000474214,;RUBCN,upstream_gene_variant,,ENST00000415452,;RUBCN,upstream_gene_variant,,ENST00000447048,;RUBCN,non_coding_transcript_exon_variant,,ENST00000467303,;	C	ENST00000296343	Transcript	frameshift_variant	267-268/2919	267-268/2919	89-90/972	-/X	-/G		1		-1	RUBCN	HGNC	HGNC:28991	protein_coding	YES	CCDS43195.1	ENSP00000296343	Q92622		UPI00001C1DE4	NM_014687.2			3/20		PROSITE_profiles:PS50826,hmmpanther:PTHR12326:SF11,hmmpanther:PTHR12326,Pfam_domain:PF02759,Superfamily_domains:0052343																	HIGH	1	insertion	2			1										PASS		.	.												C	7	5	65	197705127	197705127	-	C	1	0	1	1	0	0	0	0	0	13999	159	6	0		0	RUBCN	3	197705127	Frame_Shift_Ins	INS	-	C3N-00738_TP	30204862	197705127	590432	49	21381											
ZNF595	0	.	GRCh38	chr4	86691	86691	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatactggagagaaaccctAcacatgtgaagaatgtggca	15	8	10	8	0	1	3	1	1	0	2	1	5	1	4	1	2	3	1	1	2	5	2	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.1187A>G	p.Tyr396Cys	p.Y396C	ENST00000610261	4/4	180	161	19	230	230	0	strelka-varscan-mutect	ZNF595,missense_variant,p.Tyr396Cys,ENST00000610261,NM_182524.3;ZNF595,missense_variant,p.Tyr364Cys,ENST00000609518,NM_001286052.1;ZNF595,missense_variant,p.Tyr213Cys,ENST00000608255,NM_001286053.1,NM_001286054.1;	G	ENST00000610261	Transcript	missense_variant	1391/2911	1187/1947	396/648	Y/C	tAc/tGc		1		1	ZNF595	HGNC	HGNC:27196	protein_coding	YES	CCDS75075.1	ENSP00000477392		Q7Z3I0	UPI00001A9D0D	NM_182524.3	deleterious(0.02)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF303,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	65	86691	86691	A	G	1	0	0	0	0	1	0	0	0	18600	391	14	5		5	ZNF595	4	86691	Missense_Mutation	SNP	A	C3N-00738_TP		86691	190127864	50	21382											
AFAP1	0	.	GRCh38	chr4	7819173	7819173	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaggcttctttgatcaccTataaaaagcacagacacttt	13	13	6	9	0	2	2	1	1	1	1	2	2	2	2	1	1	1	3	1	1	5	6	rs762771077		C3N-00738_TP	C3N-00738_NB	T	T																c.727-2A>T		p.X243_splice	ENST00000420658		88	81	7	52	52	0	strelka-mutect	AFAP1,splice_acceptor_variant,,ENST00000420658,NM_001134647.1;AFAP1,splice_acceptor_variant,,ENST00000358461,NM_198595.2;AFAP1,splice_acceptor_variant,,ENST00000360265,;AFAP1,splice_acceptor_variant,,ENST00000382543,;AFAP1,upstream_gene_variant,,ENST00000614385,;	A	ENST00000420658	Transcript	splice_acceptor_variant	-/7768	727/2445	243/814			rs762771077	1		-1	AFAP1	HGNC	HGNC:24017	protein_coding	YES	CCDS47010.1	ENSP00000410689	Q8N556		UPI000048041E	NM_001134647.1				6/17																		HIGH	1	SNV	2			1										PASS		rs762771077	.												A	5	1	65	7819173	7819173	T	A	1	0	0	0	0	0	0	1	0	430	1536	53	4		4	AFAP1	4	7819173	Splice_Site	SNP	T	C3N-00738_TP	7732482	7819173	182395382	51	21383											
HTRA3	0	.	GRCh38	chr4	8291439	8291439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagtttgtggtggccatcGgcagtcccttcgccctacag	5	10	14	12	2	0	0	0	0	0	0	3	1	1	1	3	4	1	2	3	4	1	3	rs774347163		C3N-00738_TP	C3N-00738_NB	G	G																c.778G>T	p.Gly260Cys	p.G260C	ENST00000307358	4/9	340	312	28	324	324	0	strelka-varscan-mutect	HTRA3,missense_variant,p.Gly260Cys,ENST00000307358,NM_053044.4;HTRA3,missense_variant,p.Gly260Cys,ENST00000382512,NM_001297559.1;	T	ENST00000307358	Transcript	missense_variant	982/2541	778/1362	260/453	G/C	Ggc/Tgc	rs774347163	1		1	HTRA3	HGNC	HGNC:30406	protein_coding	YES	CCDS3400.1	ENSP00000303766	P83110		UPI0000001647	NM_053044.4	deleterious(0)		4/9		hmmpanther:PTHR22939:SF14,hmmpanther:PTHR22939,Gene3D:2.40.10.10,Pfam_domain:PF13365,Superfamily_domains:SSF50494,Prints_domain:PR00834																	MODERATE	1	SNV	1			1										PASS		rs774347163	.												T	3	4	65	8291439	8291439	G	T	1	0	0	0	0	1	0	0	0	7351	1116	39	1		1	HTRA3	4	8291439	Missense_Mutation	SNP	G	C3N-00738_TP	472266	8291439	181923116	52	21384											
PACRGL	0	.	GRCh38	chr4	20709772	20709772	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttattactttagctgAggtaaatatgccatctcttg	10	17	6	8	0	2	1	0	1	2	0	3	1	2	1	1	1	3	2	1	1	6	8	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.365A>T	p.Glu122Val	p.E122V	ENST00000503585	5/9	174	154	20	206	206	0	strelka-varscan-mutect	PACRGL,missense_variant,p.Glu122Val,ENST00000360916,NM_145048.3;PACRGL,missense_variant,p.Glu122Val,ENST00000295290,;PACRGL,missense_variant,p.Glu122Val,ENST00000503585,NM_001258345.1;PACRGL,missense_variant,p.Glu122Val,ENST00000507634,;PACRGL,missense_variant,p.Glu170Val,ENST00000510051,;PACRGL,missense_variant,p.Glu122Val,ENST00000513590,;PACRGL,missense_variant,p.Glu122Val,ENST00000514485,;PACRGL,missense_variant,p.Glu122Val,ENST00000509469,;PACRGL,missense_variant,p.Glu54Val,ENST00000506457,;PACRGL,intron_variant,,ENST00000513459,NM_001317849.1;PACRGL,intron_variant,,ENST00000444671,NM_001130727.1;PACRGL,intron_variant,,ENST00000502374,NM_001258346.1;PACRGL,intron_variant,,ENST00000502938,;PACRGL,intron_variant,,ENST00000511089,;PACRGL,intron_variant,,ENST00000514292,;PACRGL,intron_variant,,ENST00000513861,;PACRGL,intron_variant,,ENST00000515339,;PACRGL,downstream_gene_variant,,ENST00000506745,;PACRGL,downstream_gene_variant,,ENST00000504630,;PACRGL,downstream_gene_variant,,ENST00000514663,;PACRGL,missense_variant,p.Glu122Val,ENST00000471979,;PACRGL,missense_variant,p.Glu122Val,ENST00000467997,;PACRGL,missense_variant,p.Glu122Val,ENST00000506702,;PACRGL,splice_region_variant,,ENST00000506951,;PACRGL,intron_variant,,ENST00000508952,;PACRGL,intron_variant,,ENST00000503747,;PACRGL,upstream_gene_variant,,ENST00000506648,;PACRGL,upstream_gene_variant,,ENST00000506552,;	T	ENST00000503585	Transcript	missense_variant,splice_region_variant	756/1582	365/747	122/248	E/V	gAg/gTg		1		1	PACRGL	HGNC	HGNC:28442	protein_coding	YES	CCDS58895.1	ENSP00000423881	Q8N7B6		UPI00001405F2	NM_001258345.1	deleterious(0)		5/9		Pfam_domain:PF10274,hmmpanther:PTHR21207,hmmpanther:PTHR21207:SF5																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	65	20709772	20709772	A	T	1	0	0	0	0	1	0	0	0	11449	318	11	4		4	PACRGL	4	20709772	Missense_Mutation	SNP	A	C3N-00738_TP	12418333	20709772	169504783	53	21385											
ADGRA3	0	.	GRCh38	chr4	22387705	22387705	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctaggaagcccagcaatgTtacacagtagtttcgtgttt	10	12	10	9	1	0	0	0	0	0	0	1	1	0	1	2	1	3	5	2	1	5	5	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.3966A>T	p.Ter1322TyrextTer6	p.*1322Yext*6	ENST00000334304	19/19	69	58	11	105	105	0	strelka-varscan-mutect	ADGRA3,stop_lost,p.Ter1322TyrextTer6,ENST00000334304,NM_145290.3;ADGRA3,downstream_gene_variant,,ENST00000282943,;ADGRA3,downstream_gene_variant,,ENST00000504617,;ADGRA3,non_coding_transcript_exon_variant,,ENST00000499527,;ADGRA3,intron_variant,,ENST00000511051,;	A	ENST00000334304	Transcript	stop_lost	4236/4566	3966/3966	1322/1321	*/Y	taA/taT		1		-1	ADGRA3	HGNC	HGNC:13839	protein_coding	YES	CCDS33964.1	ENSP00000334952	Q8IWK6		UPI00001D7735	NM_145290.3			19/19																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	65	22387705	22387705	T	A	1	0	0	0	0	0	0	0	0	354	1732	60	4		4	ADGRA3	4	22387705	Nonstop_Mutation	SNP	T	C3N-00738_TP	1677933	22387705	167826850	54	21386											
UBA6	0	.	GRCh38	chr4	67670587	67670587	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attccatgtacatctgcactGataaactgtaaaatggcaaa	16	11	6	8	0	1	1	0	1	1	0	2	1	2	1	1	1	3	4	1	1	6	4	rs764833296		C3N-00738_TP	C3N-00738_NB	G	G																c.552C>T	p.=	p.I184I	ENST00000322244	8/33	235	211	24	308	307	1	strelka-varscan-mutect	UBA6,synonymous_variant,p.=,ENST00000322244,NM_018227.5;UBA6,synonymous_variant,p.=,ENST00000420827,;UBA6,non_coding_transcript_exon_variant,,ENST00000429659,;	A	ENST00000322244	Transcript	synonymous_variant	612/9564	552/3159	184/1052	I	atC/atT	rs764833296	1		-1	UBA6	HGNC	HGNC:25581	protein_coding	YES	CCDS3516.1	ENSP00000313454	A0AVT1	A0A024RDB0	UPI000004A4F7	NM_018227.5			8/33		hmmpanther:PTHR10953:SF141,hmmpanther:PTHR10953,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01408,Pfam_domain:PF00899,Superfamily_domains:SSF69572																	LOW	1	SNV	1			1										PASS		rs764833296	.												A	2	1	65	67670587	67670587	G	A	1	0	0	0	0	0	0	0	1	17351	1304	45	3		3	UBA6	4	67670587	Silent	SNP	G	C3N-00738_TP	45282882	67670587	122543968	55	21387											
PPP3CA	0	.	GRCh38	chr4	101026017	101026017	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggtctaagcccttggcttCctcgaagctagtgatcttat	7	14	9	11	2	2	1	0	1	2	0	5	2	3	1	2	2	2	2	2	2	4	5	rs775976578		C3N-00738_TP	C3N-00738_NB	C	C																c.1414G>T	p.Glu472Ter	p.E472*	ENST00000394854	14/14	127	114	13	122	122	0	strelka-varscan-mutect	PPP3CA,stop_gained,p.Glu472Ter,ENST00000394854,NM_000944.4;PPP3CA,stop_gained,p.Glu420Ter,ENST00000323055,NM_001130692.1;PPP3CA,stop_gained,p.Glu240Ter,ENST00000512215,;PPP3CA,stop_gained,p.Glu462Ter,ENST00000394853,NM_001130691.1;PPP3CA,stop_gained,p.Glu374Ter,ENST00000507176,;	A	ENST00000394854	Transcript	stop_gained	2098/4685	1414/1566	472/521	E/*	Gaa/Taa	rs775976578,COSM5615336	1		-1	PPP3CA	HGNC	HGNC:9314	protein_coding	YES	CCDS34037.1	ENSP00000378323	Q08209	A0A0S2Z4C6	UPI0000110660	NM_000944.4			14/14		Superfamily_domains:SSF56300											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs775976578	.												A	4	1	65	101026017	101026017	C	A	1	0	0	0	0	0	1	0	0	12519	864	30	2		2	PPP3CA	4	101026017	Nonsense_Mutation	SNP	C	C3N-00738_TP	33355430	101026017	89188538	56	21388											
NPNT	0	.	GRCh38	chr4	105937053	105937053	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggccctgtaagcacaggTgcatgaacacttacggcagc	10	6	11	14	2	0	1	0	1	0	0	0	1	0	1	2	3	5	4	2	3	3	2	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.400T>G	p.Cys134Gly	p.C134G	ENST00000427316	5/13	204	186	18	271	270	1	strelka-varscan-mutect	NPNT,missense_variant,p.Cys104Gly,ENST00000379987,NM_001033047.2;NPNT,missense_variant,p.Cys104Gly,ENST00000305572,;NPNT,missense_variant,p.Cys134Gly,ENST00000427316,NM_001184691.1;NPNT,missense_variant,p.Cys121Gly,ENST00000453617,NM_001184690.1;NPNT,missense_variant,p.Cys104Gly,ENST00000514622,NM_001184692.1;NPNT,missense_variant,p.Cys134Gly,ENST00000506666,NM_001184693.1;NPNT,missense_variant,p.Cys151Gly,ENST00000503451,;NPNT,missense_variant,p.Cys81Gly,ENST00000514837,;NPNT,5_prime_UTR_variant,,ENST00000504304,;RP11-710F7.2,upstream_gene_variant,,ENST00000512514,;NPNT,non_coding_transcript_exon_variant,,ENST00000513430,;NPNT,non_coding_transcript_exon_variant,,ENST00000505821,;NPNT,non_coding_transcript_exon_variant,,ENST00000506056,;	G	ENST00000427316	Transcript	missense_variant	612/2481	400/1788	134/595	C/G	Tgc/Ggc		1		1	NPNT	HGNC	HGNC:27405	protein_coding	YES	CCDS54785.1	ENSP00000389252	Q6UXI9		UPI0001AE758D	NM_001184691.1	deleterious(0)		5/13		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24050,hmmpanther:PTHR24050:SF19,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	65	105937053	105937053	T	G	1	0	0	0	0	1	0	0	0	10646	1696	59	5		5	NPNT	4	105937053	Missense_Mutation	SNP	T	C3N-00738_TP	4911036	105937053	84277502	57	21389											
FSTL5	0	.	GRCh38	chr4	161386173	161386173	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatcattaatgctgacAaggtagtggccatctggaga	12	11	10	8	0	3	2	2	1	1	1	3	3	3	2	1	3	1	2	1	3	3	3	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.2118T>A	p.=	p.L706L	ENST00000306100	16/16	302	275	27	397	397	0	strelka-varscan-mutect	FSTL5,synonymous_variant,p.=,ENST00000306100,NM_020116.4;FSTL5,synonymous_variant,p.=,ENST00000379164,NM_001128427.2;FSTL5,synonymous_variant,p.=,ENST00000427802,NM_001128428.2;RP11-234O6.2,non_coding_transcript_exon_variant,,ENST00000508189,;	T	ENST00000306100	Transcript	synonymous_variant	2555/4831	2118/2544	706/847	L	ctT/ctA		1		-1	FSTL5	HGNC	HGNC:21386	protein_coding	YES	CCDS3802.1	ENSP00000305334	Q8N475		UPI000020B66B	NM_020116.4			16/16		hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF44,Gene3D:2.130.10.10,Superfamily_domains:0047643																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	65	161386173	161386173	A	T	1	0	0	0	0	0	0	0	1	5954	117	5	4		4	FSTL5	4	161386173	Silent	SNP	A	C3N-00738_TP	55449120	161386173	28828382	58	21390											
MARCH1	0	.	GRCh38	chr4	163585888	163585888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtgcagcgacagggtGtgatgagggggctctcttca	7	9	15	10	1	2	2	1	2	1	0	4	3	3	2	1	3	2	2	1	3	0	1	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.284C>A	p.Thr95Lys	p.T95K	ENST00000503008	6/8	89	77	12	105	104	1	strelka-varscan-mutect	MARCH1,missense_variant,p.Thr95Lys,ENST00000503008,NM_001166373.1;MARCH1,missense_variant,p.Thr95Lys,ENST00000274056,;MARCH1,missense_variant,p.Thr351Lys,ENST00000514618,;MARCH1,missense_variant,p.Thr78Lys,ENST00000339875,NM_017923.3;MARCH1,missense_variant,p.Thr95Lys,ENST00000507270,;MARCH1,missense_variant,p.Thr78Lys,ENST00000510786,;MARCH1,non_coding_transcript_exon_variant,,ENST00000512214,;MARCH1,non_coding_transcript_exon_variant,,ENST00000505517,;	T	ENST00000503008	Transcript	missense_variant	1261/5877	284/870	95/289	T/K	aCa/aAa		1		-1	MARCH1	HGNC	HGNC:26077	protein_coding	YES	CCDS54814.1	ENSP00000427223	Q8TCQ1		UPI0000037BB3	NM_001166373.1	deleterious(0.03)		6/8		PROSITE_profiles:PS51292,hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF53,Pfam_domain:PF12906,Gene3D:3.30.40.10,SMART_domains:SM00744,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	163585888	163585888	G	T	1	0	0	0	0	1	0	0	0	9223	1377	48	2		2	MARCH1	4	163585888	Missense_Mutation	SNP	G	C3N-00738_TP	2199715	163585888	26628667	59	21391											
DDX60	0	.	GRCh38	chr4	168293919	168293919	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccttctggccagacttgTgtaagcagagatacagtctt	10	12	10	9	0	2	2	0	0	2	2	3	4	3	2	2	1	2	2	2	1	2	5	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.750A>C	p.=	p.T250T	ENST00000393743	7/38	137	125	12	166	166	0	strelka-varscan-mutect	DDX60,synonymous_variant,p.=,ENST00000393743,NM_017631.5;	G	ENST00000393743	Transcript	synonymous_variant	1042/6071	750/5139	250/1712	T	acA/acC		1		-1	DDX60	HGNC	HGNC:25942	protein_coding	YES	CCDS34097.1	ENSP00000377344	Q8IY21		UPI000020B6AB	NM_017631.5			7/38																			LOW	1	SNV	1			1										PASS		rs1173273630	.												G	2	3	65	168293919	168293919	T	G	1	0	0	0	0	0	0	0	1	4181	1683	59	5		5	DDX60	4	168293919	Silent	SNP	T	C3N-00738_TP	4708031	168293919	21920636	60	21392											
KLKB1	0	.	GRCh38	chr4	186257329	186257329	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacccaacggatggtctgTgctggctataaagaaggggg	12	8	14	7	1	1	1	0	0	1	1	1	2	1	2	1	5	3	2	1	5	6	3	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.1689T>C	p.=	p.C563C	ENST00000264690	14/15	207	182	25	294	294	0	strelka-varscan-mutect	KLKB1,synonymous_variant,p.=,ENST00000264690,NM_000892.3;KLKB1,synonymous_variant,p.=,ENST00000511608,;KLKB1,intron_variant,,ENST00000513864,NM_001318394.1;KLKB1,non_coding_transcript_exon_variant,,ENST00000511406,;	C	ENST00000264690	Transcript	synonymous_variant	1876/2363	1689/1917	563/638	C	tgT/tgC		1		1	KLKB1	HGNC	HGNC:6371	protein_coding	YES	CCDS34120.1	ENSP00000264690	P03952		UPI000050EC06	NM_000892.3			14/15		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF121,SMART_domains:SM00020,Superfamily_domains:SSF50494																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	65	186257329	186257329	T	C	1	0	0	0	0	0	0	0	1	8281	1702	59	5		5	KLKB1	4	186257329	Silent	SNP	T	C3N-00738_TP	17963410	186257329	3957226	61	21393											
ICE1	0	.	GRCh38	chr5	5463495	5463495	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatagagcaaagttctaaCtgcgaggccgaaacaacatt	15	8	8	10	2	1	1	0	0	1	1	2	3	2	1	2	1	5	2	2	1	5	4	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.4161C>T	p.=	p.N1387N	ENST00000296564	13/19	202	189	13	255	254	1	strelka-varscan-mutect	ICE1,synonymous_variant,p.=,ENST00000296564,NM_015325.2;	T	ENST00000296564	Transcript	synonymous_variant	4383/7927	4161/6801	1387/2266	N	aaC/aaT		1		1	ICE1	HGNC	HGNC:29154	protein_coding	YES	CCDS47187.1	ENSP00000296564	Q9Y2F5		UPI00015542F9	NM_015325.2			13/19		hmmpanther:PTHR11852:SF4,hmmpanther:PTHR11852																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	65	5463495	5463495	C	T	1	0	0	0	0	0	0	0	1	7384	564	20	3		3	ICE1	5	5463495	Silent	SNP	C	C3N-00738_TP		5463495	176074764	62	21394											
ADAMTS12	0	.	GRCh38	chr5	33658183	33658183	+	Splice_Site	DEL	C	C	-																															tccctatcattggccctttaCctgtgtcctagctcatgggc																								novel		C3N-00738_TP	C3N-00738_NB	C	C																c.1190+1delG		p.X397_splice	ENST00000504830		83	68	15	105	105	0	sindel-varindel-pindel	ADAMTS12,splice_donor_variant,,ENST00000504830,NM_030955.2;ADAMTS12,splice_donor_variant,,ENST00000352040,;ADAMTS12,splice_donor_variant,,ENST00000504582,;	-	ENST00000504830	Transcript	splice_donor_variant	-/8774	1190/4785	397/1594				1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2				7/23																		HIGH	1	deletion	1			1										PASS		.	.												-	8	5	65	33658183	33658183	C	-	1	0	1	0	1	0	0	1	0	301	521	18	0		0	ADAMTS12	5	33658183	Splice_Site	DEL	C	C3N-00738_TP	28194688	33658183	147880076	63	21395											
RNF180	0	.	GRCh38	chr5	64217413	64217413	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatggtaagtatatatttacTtatatgagaaattgtcaaat	16	17	6	2	0	1	1	1	1	0	1	1	2	1	1	0	1	1	2	0	1	10	10	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.1244T>A	p.Leu415His	p.L415H	ENST00000296615	5/5	59	51	8	58	58	0	strelka-varscan-mutect	RNF180,missense_variant,p.Leu415His,ENST00000296615,NM_178532.3;RNF180,intron_variant,,ENST00000389100,NM_001113561.1;RNF180,downstream_gene_variant,,ENST00000504296,;	A	ENST00000296615	Transcript	missense_variant	1354/1727	1244/1251	415/416	L/H	cTt/cAt		1		1	RNF180	HGNC	HGNC:27752	protein_coding		CCDS34169.1	ENSP00000296615	Q86T96		UPI000006D6E2	NM_178532.3	deleterious_low_confidence(0)		5/5																			MODERATE		SNV	1			1										PASS		rs982796912	.												A	3	1	65	64217413	64217413	T	A	1	0	0	0	0	1	0	0	0	13641	1609	56	4		4	RNF180	5	64217413	Missense_Mutation	SNP	T	C3N-00738_TP	30559230	64217413	117320846	64	21396											
ANKDD1B	0	.	GRCh38	chr5	75663410	75663410	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcaaggaaagactgcccTggctgtggcctccaggagca	10	7	13	11	0	0	1	0	0	0	1	1	3	1	3	3	4	3	3	3	4	3	1	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.1112T>A	p.Leu371Gln	p.L371Q	ENST00000601380	11/14	197	174	23	282	282	0	strelka-varscan-mutect	ANKDD1B,missense_variant,p.Leu371Gln,ENST00000601380,NM_001276713.1;ANKDD1B,non_coding_transcript_exon_variant,,ENST00000506596,;ANKDD1B,non_coding_transcript_exon_variant,,ENST00000504514,;ANKDD1B,downstream_gene_variant,,ENST00000594319,;	A	ENST00000601380	Transcript	missense_variant	1288/2569	1112/1587	371/528	L/Q	cTg/cAg		1		1	ANKDD1B	HGNC	HGNC:32525	protein_coding	YES	CCDS64180.1	ENSP00000471417	A6NHY2		UPI0002A4709F	NM_001276713.1	deleterious(0)		11/14		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR24125,hmmpanther:PTHR24125:SF1,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	65	75663410	75663410	T	A	1	0	0	0	0	1	0	0	0	725	1580	55	4		4	ANKDD1B	5	75663410	Missense_Mutation	SNP	T	C3N-00738_TP	11445997	75663410	105874849	65	21397											
ANKRD34B	0	.	GRCh38	chr5	80558701	80558701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtctggtttgggtaacaCtgtgatctaaagggaaagct	10	13	12	6	0	2	1	0	1	2	0	2	2	2	2	0	3	2	3	0	3	4	4			C3N-00738_TP	C3N-00738_NB	C	C																c.1319G>T	p.Ser440Ile	p.S440I	ENST00000338682	5/5	201	178	23	283	283	0	strelka-varscan-mutect	ANKRD34B,missense_variant,p.Ser440Ile,ENST00000338682,NM_001004441.2;ANKRD34B,downstream_gene_variant,,ENST00000508916,;	A	ENST00000338682	Transcript	missense_variant	1992/3938	1319/1545	440/514	S/I	aGt/aTt	COSM1754345	1		-1	ANKRD34B	HGNC	HGNC:33736	protein_coding	YES	CCDS34194.1	ENSP00000339802	A5PLL1		UPI00003672FA	NM_001004441.2	tolerated(0.1)		5/5		hmmpanther:PTHR24156,hmmpanther:PTHR24156:SF1											1						MODERATE	1	SNV	1		1	1										PASS		rs1250730901	.												A	3	1	65	80558701	80558701	C	A	1	0	0	0	0	1	0	0	0	768	565	20	2		2	ANKRD34B	5	80558701	Missense_Mutation	SNP	C	C3N-00738_TP	4895291	80558701	100979558	66	21398											
NEUROG1	0	.	GRCh38	chr5	135535290	135535290	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagttgtaggcgaagcgcAgcgtctcgattttggtgagc	7	12	15	7	4	1	1	0	1	1	0	2	3	1	1	0	2	3	4	0	2	3	5	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.401T>A	p.Leu134Gln	p.L134Q	ENST00000314744	1/1	279	255	24	363	363	0	strelka-varscan-mutect	NEUROG1,missense_variant,p.Leu134Gln,ENST00000314744,NM_006161.2;	T	ENST00000314744	Transcript	missense_variant	660/1668	401/714	134/237	L/Q	cTg/cAg		1		-1	NEUROG1	HGNC	HGNC:7764	protein_coding	YES	CCDS4187.1	ENSP00000317580	Q92886	F1T0H3	UPI0000072868	NM_006161.2	deleterious(0)		1/1		Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF92,SMART_domains:SM00353,Superfamily_domains:SSF47459																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	65	135535290	135535290	A	T	1	0	0	0	0	1	0	0	0	10389	188	7	4		4	NEUROG1	5	135535290	Missense_Mutation	SNP	A	C3N-00738_TP	54976589	135535290	46002969	67	21399											
PCDHA1	0	.	GRCh38	chr5	140788301	140788301	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgtgcttgtatctctggtgGagagcggccaggcgccaaag	7	9	15	10	2	1	1	0	0	1	1	2	2	1	1	2	4	2	2	2	4	2	2	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.2011G>C	p.Glu671Gln	p.E671Q	ENST00000504120	1/4	245	228	17	354	354	0	strelka-varscan-mutect	PCDHA1,missense_variant,p.Glu671Gln,ENST00000504120,NM_018900.3;PCDHA1,missense_variant,p.Glu671Gln,ENST00000378133,NM_031410.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,downstream_gene_variant,,ENST00000624712,;AC005609.16,downstream_gene_variant,,ENST00000624176,;	C	ENST00000504120	Transcript	missense_variant	2011/5263	2011/2853	671/950	E/Q	Gag/Cag		1		1	PCDHA1	HGNC	HGNC:8663	protein_coding	YES	CCDS54913.1	ENSP00000420840	Q9Y5I3		UPI00001273C7	NM_018900.3	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,SMART_domains:SM00112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	65	140788301	140788301	G	C	1	0	0	0	0	1	0	0	0	11606	1175	41	4		4	PCDHA1	5	140788301	Missense_Mutation	SNP	G	C3N-00738_TP	5253011	140788301	40749958	68	21400											
UNC5A	0	.	GRCh38	chr5	176874145	176874145	+	Missense_Mutation	SNP	C	C	A																															ccagcccgtcagcatcaagcCcagcaaagcaggtgaggggc																								rs868375272		C3N-00738_TP	C3N-00738_NB	C	C																c.1064C>A	p.Pro355His	p.P355H	ENST00000329542	7/15	72	64	8	96	96	0	strelka-varscan-mutect	UNC5A,missense_variant,p.Pro355His,ENST00000329542,NM_133369.2;UNC5A,downstream_gene_variant,,ENST00000509580,;UNC5A,3_prime_UTR_variant,,ENST00000513890,;	A	ENST00000329542	Transcript	missense_variant	1338/3812	1064/2529	355/842	P/H	cCc/cAc	rs868375272	1		1	UNC5A	HGNC	HGNC:12567	protein_coding	YES	CCDS34299.1	ENSP00000332737	Q6ZN44		UPI0000047F37	NM_133369.2	deleterious(0.01)		7/15		hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582																	MODERATE	1	SNV	1			1										PASS		rs868375272	.												A	3	1	65	176874145	176874145	C	A	1	0	0	0	0	1	0	0	0	17515	623	22	2		2	UNC5A	5	176874145	Missense_Mutation	SNP	C	C3N-00738_TP	36085844	176874145	4664114	69	21401	455	2									
UNC5A	0	.	GRCh38	chr5	176874146	176874146	+	Silent	SNP	C	C	A																															cagcccgtcagcatcaagccCagcaaagcaggtgaggggcc																								rs746343986		C3N-00738_TP	C3N-00738_NB	C	C																c.1065C>A	p.=	p.P355P	ENST00000329542	7/15	71	63	8	95	95	0	strelka-varscan-mutect	UNC5A,synonymous_variant,p.=,ENST00000329542,NM_133369.2;UNC5A,downstream_gene_variant,,ENST00000509580,;UNC5A,3_prime_UTR_variant,,ENST00000513890,;	A	ENST00000329542	Transcript	synonymous_variant	1339/3812	1065/2529	355/842	P	ccC/ccA	rs746343986	1		1	UNC5A	HGNC	HGNC:12567	protein_coding	YES	CCDS34299.1	ENSP00000332737	Q6ZN44		UPI0000047F37	NM_133369.2			7/15		hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582																	LOW	1	SNV	1			1										PASS		rs746343986	.												A	2	1	65	176874146	176874146	C	A	1	0	0	0	0	0	0	0	1	17515	581	21	2		2	UNC5A	5	176874146	Silent	SNP	C	C3N-00738_TP	1	176874146	4664113	70	21402	455	2									
NSD1	0	.	GRCh38	chr5	177210753	177210753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acattcgaaaagcaaacagcCcaagttccgaagtataaagt	18	7	7	9	2	0	0	0	0	0	0	2	2	1	0	2	0	3	3	2	0	8	4	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.2354C>T	p.Pro785Leu	p.P785L	ENST00000439151	5/23	241	214	27	406	406	0	strelka-varscan-mutect	NSD1,missense_variant,p.Pro785Leu,ENST00000439151,NM_022455.4;NSD1,missense_variant,p.Pro516Leu,ENST00000354179,NM_172349.2;NSD1,missense_variant,p.Pro516Leu,ENST00000347982,;NSD1,downstream_gene_variant,,ENST00000508896,;NSD1,upstream_gene_variant,,ENST00000375350,;	T	ENST00000439151	Transcript	missense_variant	2399/12892	2354/8091	785/2696	P/L	cCc/cTc		1		1	NSD1	HGNC	HGNC:14234	protein_coding	YES	CCDS4412.1	ENSP00000395929	Q96L73		UPI000006F9C6	NM_022455.4	tolerated_low_confidence(0.21)		5/23																			MODERATE	1	SNV	1			1										PASS		rs1190163166	.												T	3	4	65	177210753	177210753	C	T	1	0	0	0	0	1	0	0	0	10728	623	22	3		3	NSD1	5	177210753	Missense_Mutation	SNP	C	C3N-00738_TP	336607	177210753	4327506	71	21403											
NSD1	0	.	GRCh38	chr5	177269802	177269802	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagtggatgggacatataAaaaaggtaactttatccttt	15	12	10	4	0	0	0	0	0	0	0	1	3	1	3	1	4	1	1	1	4	6	6	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.5504A>T	p.Lys1835Ile	p.K1835I	ENST00000439151	16/23	84	75	9	158	157	1	strelka-varscan-mutect	NSD1,missense_variant,p.Lys1835Ile,ENST00000439151,NM_022455.4;NSD1,missense_variant,p.Lys1566Ile,ENST00000354179,NM_172349.2;NSD1,missense_variant,p.Lys1566Ile,ENST00000347982,;NSD1,missense_variant,p.Lys49Ile,ENST00000503056,;NSD1,missense_variant,p.Lys49Ile,ENST00000515735,;NSD1,downstream_gene_variant,,ENST00000504457,;NSD1,downstream_gene_variant,,ENST00000508029,;NSD1,downstream_gene_variant,,ENST00000505395,;PRMT1P1,upstream_gene_variant,,ENST00000604252,;CTD-2301A4.3,downstream_gene_variant,,ENST00000460608,;	T	ENST00000439151	Transcript	missense_variant	5549/12892	5504/8091	1835/2696	K/I	aAa/aTa		1		1	NSD1	HGNC	HGNC:14234	protein_coding	YES	CCDS4412.1	ENSP00000395929	Q96L73		UPI000006F9C6	NM_022455.4	deleterious(0.01)		16/23		Gene3D:2.30.30.160,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00855,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312,Superfamily_domains:SSF63748																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	177269802	177269802	A	T	1	0	0	0	0	1	0	0	0	10728	28	1	4		4	NSD1	5	177269802	Missense_Mutation	SNP	A	C3N-00738_TP	59049	177269802	4268457	72	21404											
NKAPL	0	.	GRCh38	chr6	28260429	28260429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgcagaatggaggctgtacGactgcgtaaggagaaccaga	13	6	14	8	3	0	3	0	0	0	3	1	6	0	4	1	3	3	4	1	3	4	2			C3N-00738_TP	C3N-00738_NB	G	G																c.1058G>A	p.Arg353Gln	p.R353Q	ENST00000343684	1/1	250	234	16	310	310	0	strelka-varscan-mutect	NKAPL,missense_variant,p.Arg353Gln,ENST00000343684,NM_001007531.2;	A	ENST00000343684	Transcript	missense_variant	1110/1639	1058/1209	353/402	R/Q	cGa/cAa	COSM3861162	1		1	NKAPL	HGNC	HGNC:21584	protein_coding	YES	CCDS34353.1	ENSP00000345716	Q5M9Q1		UPI0000072A86	NM_001007531.2	deleterious(0)		1/1		Pfam_domain:PF06047,hmmpanther:PTHR13087,hmmpanther:PTHR13087:SF3											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	65	28260429	28260429	G	A	1	0	0	0	0	1	0	0	0	10475	1058	37	1		1	NKAPL	6	28260429	Missense_Mutation	SNP	G	C3N-00738_TP		28260429	142545550	73	21405											
PSMB9	0	.	GRCh38	chr6	32858014	32858014	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttccctcaggatagaactGgaggaacctccacttgtttt	10	13	8	10	0	1	1	1	0	0	1	3	4	3	4	3	3	2	1	3	3	3	5	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.270G>T	p.=	p.L90L	ENST00000374859	4/6	167	158	9	174	174	0	strelka-mutect	PSMB9,synonymous_variant,p.=,ENST00000395330,;PSMB9,synonymous_variant,p.=,ENST00000374859,NM_002800.4;PSMB9,synonymous_variant,p.=,ENST00000414474,;TAP1,upstream_gene_variant,,ENST00000354258,NM_000593.5,NM_001292022.1;PSMB9,non_coding_transcript_exon_variant,,ENST00000464863,;PSMB9,non_coding_transcript_exon_variant,,ENST00000467593,;	T	ENST00000374859	Transcript	synonymous_variant	339/782	270/660	90/219	L	ctG/ctT		1		1	PSMB9	HGNC	HGNC:9546	protein_coding	YES	CCDS4759.1	ENSP00000363993	P28065		UPI00001325CD	NM_002800.4			4/6		Gene3D:3.60.20.10,Pfam_domain:PF00227,PROSITE_profiles:PS51476,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF50,Superfamily_domains:SSF56235																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	65	32858014	32858014	G	T	1	0	0	0	0	0	0	0	1	12835	1335	47	2		2	PSMB9	6	32858014	Silent	SNP	G	C3N-00738_TP	4597585	32858014	137947965	74	21406											
ADGRF1	0	.	GRCh38	chr6	47005823	47005823	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagataattaccttttcTgtttgcttccaagaacttaa	12	16	6	7	0	1	2	0	0	1	2	2	3	2	2	2	1	3	2	2	1	6	8	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.2586A>G	p.=	p.T862T	ENST00000371253	13/15	136	119	17	171	171	0	strelka-varscan-mutect	ADGRF1,synonymous_variant,p.=,ENST00000371253,NM_153840.3;ADGRF1,synonymous_variant,p.=,ENST00000283297,;ADGRF1,non_coding_transcript_exon_variant,,ENST00000449332,;ADGRF1,non_coding_transcript_exon_variant,,ENST00000419892,;ADGRF1,upstream_gene_variant,,ENST00000477858,;	C	ENST00000371253	Transcript	synonymous_variant	2802/5468	2586/2733	862/910	T	acA/acG		1		-1	ADGRF1	HGNC	HGNC:18990	protein_coding	YES	CCDS34471.1	ENSP00000360299	Q5T601		UPI00000474ED	NM_153840.3			13/15		Prints_domain:PR01695,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF310																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	65	47005823	47005823	T	C	1	0	0	0	0	0	0	0	1	363	1567	55	5		5	ADGRF1	6	47005823	Silent	SNP	T	C3N-00738_TP	14147809	47005823	123800156	75	21407											
PKHD1	0	.	GRCh38	chr6	51911898	51911898	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgagcagagccacagTggcctttaaaatatggtgct	10	10	11	10	0	0	2	0	1	0	1	0	2	0	2	3	2	4	3	3	2	3	3	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.6391A>T	p.Thr2131Ser	p.T2131S	ENST00000371117	39/67	299	281	18	382	382	0	strelka-varscan-mutect	PKHD1,missense_variant,p.Thr2131Ser,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Thr2131Ser,ENST00000340994,NM_170724.2;	A	ENST00000371117	Transcript	missense_variant	6667/16282	6391/12225	2131/4074	T/S	Act/Tct		1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3	deleterious(0.03)		39/67																			MODERATE	1	SNV	1			1										PASS		rs1191383685	.												A	3	1	65	51911898	51911898	T	A	1	0	0	0	0	1	0	0	0	12067	1696	59	4		4	PKHD1	6	51911898	Missense_Mutation	SNP	T	C3N-00738_TP	4906075	51911898	118894081	76	21408											
FIG4	0	.	GRCh38	chr6	109715169	109715169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagatttggtcataattgAtgacagggtaagtatcctcc	14	12	9	6	0	1	3	1	2	0	1	3	3	3	3	2	2	0	2	2	2	5	5	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.158A>G	p.Asp53Gly	p.D53G	ENST00000230124	2/23	237	224	13	264	264	0	strelka-mutect	FIG4,missense_variant,p.Asp53Gly,ENST00000230124,NM_014845.5;FIG4,missense_variant,p.Asp32Gly,ENST00000454215,;FIG4,upstream_gene_variant,,ENST00000368941,;	G	ENST00000230124	Transcript	missense_variant	282/3011	158/2724	53/907	D/G	gAt/gGt		1		1	FIG4	HGNC	HGNC:16873	protein_coding	YES	CCDS5078.1	ENSP00000230124	Q92562		UPI000000D9A3	NM_014845.5	deleterious(0.01)		2/23		hmmpanther:PTHR11200:SF9,hmmpanther:PTHR11200																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	65	109715169	109715169	A	G	1	0	0	0	0	1	0	0	0	5753	333	12	5		5	FIG4	6	109715169	Missense_Mutation	SNP	A	C3N-00738_TP	57803271	109715169	61090810	77	21409											
STX11	0	.	GRCh38	chr6	144186854	144186854	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgcttcctcacgtccaTgcggcgcctcagcagcatca	6	7	9	19	5	3	0	3	0	0	0	5	0	5	0	4	1	3	3	4	1	0	1	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.227T>A	p.Met76Lys	p.M76K	ENST00000367568	2/2	343	325	18	426	425	1	strelka-varscan	STX11,missense_variant,p.Met76Lys,ENST00000367568,NM_003764.3;	A	ENST00000367568	Transcript	missense_variant	410/1926	227/864	76/287	M/K	aTg/aAg		1		1	STX11	HGNC	HGNC:11429	protein_coding	YES	CCDS5205.1	ENSP00000356540	O75558		UPI0000001C25	NM_003764.3	deleterious(0.03)		2/2		Gene3D:1.20.58.70,Pfam_domain:PF00804,hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF30,SMART_domains:SM00503,Superfamily_domains:SSF47661																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	65	144186854	144186854	T	A	1	0	0	0	0	1	0	0	0	15721	1464	51	4		4	STX11	6	144186854	Missense_Mutation	SNP	T	C3N-00738_TP	34471685	144186854	26619125	78	21410											
INTS1	0	.	GRCh38	chr7	1495472	1495472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggcgagcttgctgatggagGggaccacagtgtggagccac	8	6	18	9	1	0	1	0	1	0	0	0	5	0	4	2	5	3	2	2	5	0	1	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.1793C>T	p.Pro598Leu	p.P598L	ENST00000404767	13/48	124	113	11	136	136	0	strelka-varscan-mutect	INTS1,missense_variant,p.Pro598Leu,ENST00000404767,NM_001080453.2;INTS1,non_coding_transcript_exon_variant,,ENST00000496988,;INTS1,downstream_gene_variant,,ENST00000493531,;INTS1,upstream_gene_variant,,ENST00000468115,;	A	ENST00000404767	Transcript	missense_variant	1879/6959	1793/6573	598/2190	P/L	cCc/cTc		1		-1	INTS1	HGNC	HGNC:24555	protein_coding	YES	CCDS47526.1	ENSP00000385722	Q8N201		UPI0000D7211C	NM_001080453.2	deleterious(0.01)		13/48		hmmpanther:PTHR21224:SF1,hmmpanther:PTHR21224																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	65	1495472	1495472	G	A	1	0	0	0	0	1	0	0	0	7677	1232	43	3		3	INTS1	7	1495472	Missense_Mutation	SNP	G	C3N-00738_TP		1495472	157850501	79	21411											
THSD7A	0	.	GRCh38	chr7	11543008	11543008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttcataagtacaaggtccCcaagctgaccaaggtgaaac	14	9	8	10	0	1	2	1	2	0	0	2	2	2	2	3	2	3	2	3	2	6	4			C3N-00738_TP	C3N-00738_NB	C	C																c.1563G>T	p.Trp521Cys	p.W521C	ENST00000423059	5/28	189	172	17	238	237	1	strelka-varscan-mutect	THSD7A,missense_variant,p.Trp521Cys,ENST00000423059,NM_015204.2;THSD7A,missense_variant,p.Trp521Cys,ENST00000617773,;THSD7A,non_coding_transcript_exon_variant,,ENST00000497575,;	A	ENST00000423059	Transcript	missense_variant	1815/10663	1563/4974	521/1657	W/C	tgG/tgT	COSM364717	1		-1	THSD7A	HGNC	HGNC:22207	protein_coding	YES	CCDS47543.1	ENSP00000406482	Q9UPZ6		UPI00006C0B74	NM_015204.2	deleterious(0)		5/28		PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,Gene3D:2.20.100.10,SMART_domains:SM00209											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	65	11543008	11543008	C	A	1	0	0	0	0	1	0	0	0	16313	624	22	2		2	THSD7A	7	11543008	Missense_Mutation	SNP	C	C3N-00738_TP	10047536	11543008	147802965	80	21412											
AGMO	0	.	GRCh38	chr7	15418607	15418607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgaattgaagatgaacaGcatatactgaagggggtatg	15	10	13	3	0	0	5	0	4	0	1	0	6	0	5	0	2	3	2	0	2	7	5			C3N-00738_TP	C3N-00738_NB	G	G																c.560C>A	p.Ala187Asp	p.A187D	ENST00000342526	5/13	171	156	15	228	228	0	strelka-varscan-mutect	AGMO,missense_variant,p.Ala187Asp,ENST00000342526,NM_001004320.1;	T	ENST00000342526	Transcript	missense_variant	730/2475	560/1338	187/445	A/D	gCt/gAt	COSM745776	1		-1	AGMO	HGNC	HGNC:33784	protein_coding	YES	CCDS34604.1	ENSP00000341662	Q6ZNB7	X5D773	UPI0000050343	NM_001004320.1	deleterious(0.01)		5/13		Pfam_domain:PF04116,hmmpanther:PTHR21624,hmmpanther:PTHR21624:SF1											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	65	15418607	15418607	G	T	1	0	0	0	0	1	0	0	0	463	971	34	2		2	AGMO	7	15418607	Missense_Mutation	SNP	G	C3N-00738_TP	3875599	15418607	143927366	81	21413											
DFNA5	0	.	GRCh38	chr7	24719069	24719069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaccgtcttggtctggatgCccacgatgccaccacacttc	7	9	9	16	2	2	0	0	0	2	0	3	2	2	1	4	2	2	1	4	2	0	2	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.554G>A	p.Gly185Asp	p.G185D	ENST00000342947	4/10	353	333	20	406	406	0	strelka-varscan-mutect	DFNA5,missense_variant,p.Gly185Asp,ENST00000342947,NM_004403.2;DFNA5,missense_variant,p.Gly21Asp,ENST00000419307,NM_001127454.1;DFNA5,missense_variant,p.Gly21Asp,ENST00000409970,;DFNA5,missense_variant,p.Gly185Asp,ENST00000409775,NM_001127453.1;DFNA5,missense_variant,p.Gly10Asp,ENST00000446822,;DFNA5,downstream_gene_variant,,ENST00000414428,;DFNA5,upstream_gene_variant,,ENST00000415480,;DFNA5,non_coding_transcript_exon_variant,,ENST00000559637,;DFNA5,missense_variant,p.Gly108Asp,ENST00000411476,;DFNA5,non_coding_transcript_exon_variant,,ENST00000493723,;	T	ENST00000342947	Transcript	missense_variant	980/2590	554/1491	185/496	G/D	gGc/gAc		1		-1	DFNA5	HGNC	HGNC:2810	protein_coding	YES	CCDS5389.1	ENSP00000339587	O60443	A0A024RA58	UPI00001291FC	NM_004403.2	deleterious(0.01)		4/10		Pfam_domain:PF04598,hmmpanther:PTHR15207,hmmpanther:PTHR15207:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	24719069	24719069	C	T	1	0	0	0	0	1	0	0	0	4262	739	26	3		3	DFNA5	7	24719069	Missense_Mutation	SNP	C	C3N-00738_TP	9300462	24719069	134626904	82	21414											
NPSR1	0	.	GRCh38	chr7	34827495	34827495	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggaagaggacactgtcCaacggtgaagtgcagtgctg	10	9	15	7	1	0	2	0	1	0	1	1	4	1	4	1	3	3	2	1	3	3	1	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.573C>A	p.=	p.S191S	ENST00000381539	5/10	490	455	35	480	479	1	strelka-varscan-mutect	NPSR1,synonymous_variant,p.=,ENST00000360581,NM_207172.1;NPSR1,synonymous_variant,p.=,ENST00000359791,NM_207173.1;NPSR1,synonymous_variant,p.=,ENST00000531252,NM_001300933.1;NPSR1,synonymous_variant,p.=,ENST00000381542,NM_001300934.1;NPSR1,synonymous_variant,p.=,ENST00000381539,NM_001300935.1;NPSR1-AS1,intron_variant,,ENST00000436945,;NPSR1-AS1,intron_variant,,ENST00000431669,;NPSR1,missense_variant,p.Gln157Lys,ENST00000381544,;NPSR1,3_prime_UTR_variant,,ENST00000396095,;	A	ENST00000381539	Transcript	synonymous_variant	577/1233	573/1173	191/390	S	tcC/tcA		1		1	NPSR1	HGNC	HGNC:23631	protein_coding	YES	CCDS75579.1	ENSP00000370950	Q6W5P4		UPI00004F9C01	NM_001300935.1			5/10		PROSITE_profiles:PS50262,hmmpanther:PTHR24244,hmmpanther:PTHR24244:SF2,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	65	34827495	34827495	C	A	1	0	0	0	0	0	0	0	1	10656	581	21	2		2	NPSR1	7	34827495	Silent	SNP	C	C3N-00738_TP	10108426	34827495	124518478	83	21415											
ZNF804B	0	.	GRCh38	chr7	89336871	89336871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttattcctacattgtttGgtcctcacttaaatccagcc	9	16	4	12	0	1	0	1	0	0	0	4	0	4	0	4	1	2	1	4	1	4	7	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.3889G>T	p.Gly1297Cys	p.G1297C	ENST00000333190	4/4	253	226	27	349	349	0	strelka-varscan-mutect	ZNF804B,missense_variant,p.Gly1297Cys,ENST00000333190,NM_181646.3;ZNF804B,missense_variant,p.Gly1214Cys,ENST00000611114,;	T	ENST00000333190	Transcript	missense_variant	4498/4659	3889/4050	1297/1349	G/C	Ggt/Tgt		1		1	ZNF804B	HGNC	HGNC:21958	protein_coding	YES	CCDS5613.1	ENSP00000329638	A4D1E1		UPI00001A92D2	NM_181646.3	deleterious(0.03)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12																	MODERATE	1	SNV	1			1										PASS		rs960852950	.												T	3	4	65	89336871	89336871	G	T	1	0	0	0	0	1	0	0	0	18756	1348	47	2		2	ZNF804B	7	89336871	Missense_Mutation	SNP	G	C3N-00738_TP	54509376	89336871	70009102	84	21416											
OR2A14	0	.	GRCh38	chr7	144129262	144129262	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctttgggattatctgcctGgactgtaagcttcacacacc	9	13	8	11	0	3	0	1	0	2	0	3	2	3	2	2	2	2	2	2	2	2	4	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.150G>A	p.=	p.L50L	ENST00000408899	1/1	232	203	29	256	256	0	strelka-varscan-mutect	OR2A14,synonymous_variant,p.=,ENST00000408899,NM_001001659.1;OR2A14,intron_variant,,ENST00000627593,;	A	ENST00000408899	Transcript	synonymous_variant	205/1012	150/933	50/310	L	ctG/ctA		1		1	OR2A14	HGNC	HGNC:15084	protein_coding	YES	CCDS43672.1	ENSP00000386137	Q96R47	A0A126GVB0	UPI0000061E6E	NM_001001659.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF27,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	65	144129262	144129262	G	A	1	0	0	0	0	0	0	0	1	11053	1335	47	3		3	OR2A14	7	144129262	Silent	SNP	G	C3N-00738_TP	54792391	144129262	15216711	85	21417											
CNTNAP2	0	.	GRCh38	chr7	147132452	147132452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctcactgaaagcaaaGtgggtgttcacatcaacatc	13	10	8	10	0	3	2	3	2	0	0	4	2	3	2	1	1	2	2	1	1	3	2	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.1291G>T	p.Val431Leu	p.V431L	ENST00000361727	8/24	340	301	39	473	473	0	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Val431Leu,ENST00000361727,NM_014141.5;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637694,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637825,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636561,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637150,;	T	ENST00000361727	Transcript	missense_variant	1809/9896	1291/3996	431/1331	V/L	Gtg/Ttg		1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	tolerated(1)		8/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs1300358055	.												T	3	4	65	147132452	147132452	G	T	1	0	0	0	0	1	0	0	0	3428	1029	36	2		2	CNTNAP2	7	147132452	Missense_Mutation	SNP	G	C3N-00738_TP	3003190	147132452	12213521	86	21418											
CSMD1	0	.	GRCh38	chr8	3343382	3343382	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggatgtgctgtttaggatCagccccagaagttcattttt	8	16	10	7	0	2	1	2	0	0	1	2	3	2	3	2	2	2	3	2	2	2	6	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.3546G>C	p.=	p.L1182L	ENST00000520002	24/71	191	181	10	257	257	0	strelka-varscan-mutect	CSMD1,synonymous_variant,p.=,ENST00000537824,;CSMD1,synonymous_variant,p.=,ENST00000335551,;CSMD1,synonymous_variant,p.=,ENST00000520002,;CSMD1,synonymous_variant,p.=,ENST00000602557,;CSMD1,synonymous_variant,p.=,ENST00000635120,NM_033225.5;CSMD1,synonymous_variant,p.=,ENST00000400186,;CSMD1,synonymous_variant,p.=,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	G	ENST00000520002	Transcript	synonymous_variant	4102/11740	3546/10698	1182/3565	L	ctG/ctC		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB				24/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	LOW	1	SNV	5			1										PASS		rs1341958896	.												G	2	3	65	3343382	3343382	C	G	1	0	0	0	0	0	0	0	1	3745	813	29	4		4	CSMD1	8	3343382	Silent	SNP	C	C3N-00738_TP		3343382	141795254	87	21419											
DLC1	0	.	GRCh38	chr8	13499151	13499151	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgccttgacctttggTggacttttgttttgatgttg	3	21	10	7	0	2	2	0	2	2	0	2	3	2	3	2	2	1	2	2	2	0	8	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.921A>G	p.=	p.P307P	ENST00000276297	2/18	279	249	30	289	289	0	strelka-varscan-mutect	DLC1,synonymous_variant,p.=,ENST00000276297,NM_182643.2;DLC1,synonymous_variant,p.=,ENST00000511869,NM_024767.3;DLC1,synonymous_variant,p.=,ENST00000316609,;DLC1,synonymous_variant,p.=,ENST00000517868,;DLC1,downstream_gene_variant,,ENST00000631382,;DLC1,downstream_gene_variant,,ENST00000517333,;	C	ENST00000276297	Transcript	synonymous_variant	1331/7447	921/4587	307/1528	P	ccA/ccG		1		-1	DLC1	HGNC	HGNC:2897	protein_coding	YES	CCDS5989.1	ENSP00000276297	Q96QB1		UPI0000210275	NM_182643.2			2/18		hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF2																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	65	13499151	13499151	T	C	1	0	0	0	0	0	0	0	1	4356	1683	59	5		5	DLC1	8	13499151	Silent	SNP	T	C3N-00738_TP	10155769	13499151	131639485	88	21420											
PLAG1	0	.	GRCh38	chr8	56166373	56166374	+	Frame_Shift_Del	DEL	GG	GG	-																															cctgaagatcctgtgtttgtGgggggagctgggaaacagaa																								novel		C3N-00738_TP	C3N-00738_NB	GG	GG																c.1372_1373delCC	p.Pro458ThrfsTer74	p.P458Tfs*74	ENST00000316981	5/5	109	103	6	145	144	1	varindel-pindel	PLAG1,frameshift_variant,p.Pro458ThrfsTer74,ENST00000316981,NM_002655.2;PLAG1,frameshift_variant,p.Pro458ThrfsTer?,ENST00000429357,NM_001114634.1;PLAG1,frameshift_variant,p.Pro376ThrfsTer74,ENST00000423799,NM_001114635.1;PLAG1,non_coding_transcript_exon_variant,,ENST00000522009,;	-	ENST00000316981	Transcript	frameshift_variant	1852-1853/7322	1372-1373/1503	458/500	P/X	CCa/a		1		-1	PLAG1	HGNC	HGNC:9045	protein_coding	YES	CCDS6165.1	ENSP00000325546	Q6DJT9	A0A024R7Z0	UPI000013FF2F	NM_002655.2			5/5		Low_complexity_(Seg):seg																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	65	56166373	56166373	GG	-	1	0	1	0	1	0	0	0	0	12112	1348	47	0		0	PLAG1	8	56166373	Frame_Shift_Del	DEL	GG	C3N-00738_TP	42667222	56166373	88972263	89	21421											
NSMAF	0	.	GRCh38	chr8	58597902	58597902	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataggtcaggggatgaaatActgaaaaagacatacaaaac	20	6	9	6	0	1	3	1	2	0	1	1	4	1	4	0	3	3	0	0	3	8	3	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.1679T>A	p.Val560Glu	p.V560E	ENST00000427130	20/31	159	142	17	166	165	1	strelka-varscan-mutect	NSMAF,missense_variant,p.Val529Glu,ENST00000038176,NM_003580.3;NSMAF,missense_variant,p.Val560Glu,ENST00000427130,NM_001144772.1;NSMAF,splice_region_variant,,ENST00000523982,;NSMAF,downstream_gene_variant,,ENST00000519858,;NSMAF,upstream_gene_variant,,ENST00000523177,;NSMAF,splice_region_variant,,ENST00000523106,;NSMAF,splice_region_variant,,ENST00000519227,;NSMAF,upstream_gene_variant,,ENST00000519166,;NSMAF,upstream_gene_variant,,ENST00000524148,;NSMAF,upstream_gene_variant,,ENST00000519174,;	T	ENST00000427130	Transcript	missense_variant,splice_region_variant	1867/3371	1679/2847	560/948	V/E	gTa/gAa		1		-1	NSMAF	HGNC	HGNC:8017	protein_coding	YES	CCDS47864.1	ENSP00000411012	Q92636		UPI000192950C	NM_001144772.1	deleterious(0)		20/31		PROSITE_profiles:PS50197,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF53,Gene3D:1t77A02,Pfam_domain:PF02138,SMART_domains:SM01026,Superfamily_domains:SSF81837																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	65	58597902	58597902	A	T	1	0	0	0	0	1	0	0	0	10734	405	14	4		4	NSMAF	8	58597902	Missense_Mutation	SNP	A	C3N-00738_TP	2431529	58597902	86540734	90	21422											
MMP16	0	.	GRCh38	chr8	88118775	88118775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccatgtactggtaaaatgGagccatgatggcagtggggt	10	11	14	6	0	0	1	0	1	0	0	1	2	1	2	2	5	2	3	2	5	3	3	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.796C>A	p.Pro266Thr	p.P266T	ENST00000286614	5/10	221	198	23	247	247	0	strelka-varscan-mutect	MMP16,missense_variant,p.Pro266Thr,ENST00000286614,NM_005941.4;MMP16,non_coding_transcript_exon_variant,,ENST00000544227,;	T	ENST00000286614	Transcript	missense_variant	1078/11558	796/1824	266/607	P/T	Cca/Aca		1		-1	MMP16	HGNC	HGNC:7162	protein_coding	YES	CCDS6246.1	ENSP00000286614	P51512		UPI000003DC73	NM_005941.4	deleterious(0)		5/10		hmmpanther:PTHR10201:SF26,hmmpanther:PTHR10201,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,Pfam_domain:PF00413,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	88118775	88118775	G	T	1	0	0	0	0	1	0	0	0	9618	1174	41	2		2	MMP16	8	88118775	Missense_Mutation	SNP	G	C3N-00738_TP	29520873	88118775	57019861	91	21423											
CSMD3	0	.	GRCh38	chr8	112247070	112247070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagatcagggaggcaggtgCgtgttgtagacccttggaga	10	9	16	6	1	1	3	1	0	0	3	1	5	1	4	1	4	1	3	1	4	2	4	rs750171856		C3N-00738_TP	C3N-00738_NB	C	C																c.10172G>T	p.Arg3391Leu	p.R3391L	ENST00000297405	64/71	279	256	23	347	347	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Arg3391Leu,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Arg3351Leu,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Arg3222Leu,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Arg2661Leu,ENST00000339701,;CSMD3,non_coding_transcript_exon_variant,,ENST00000534172,;	A	ENST00000297405	Transcript	missense_variant	10417/13212	10172/11124	3391/3707	R/L	cGc/cTc	rs750171856,COSM1150875,COSM1330369,COSM1330370,COSM748709	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0.02)		64/71		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs750171856	.												A	3	1	65	112247070	112247070	C	A	1	0	0	0	0	1	0	0	0	3747	768	27	1		1	CSMD3	8	112247070	Missense_Mutation	SNP	C	C3N-00738_TP	24128295	112247070	32891566	92	21424											
GLI4	0	.	GRCh38	chr8	143276603	143276603	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatctggagctccgtgctCatcgagcaccagcgcatcca	8	9	9	15	3	3	0	2	0	1	0	6	2	5	1	3	1	4	4	3	1	0	1	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.930C>T	p.=	p.L310L	ENST00000340042	4/4	209	198	11	229	229	0	strelka-varscan-mutect	GLI4,synonymous_variant,p.=,ENST00000340042,NM_138465.3;GLI4,synonymous_variant,p.=,ENST00000523522,;RP13-582O9.6,downstream_gene_variant,,ENST00000522452,;GLI4,downstream_gene_variant,,ENST00000521682,;GLI4,downstream_gene_variant,,ENST00000344692,;GLI4,downstream_gene_variant,,ENST00000517468,;GLI4,downstream_gene_variant,,ENST00000517530,;GLI4,downstream_gene_variant,,ENST00000520021,;MINCR,downstream_gene_variant,,ENST00000523031,;MINCR,downstream_gene_variant,,ENST00000517411,;MINCR,downstream_gene_variant,,ENST00000524335,;MINCR,downstream_gene_variant,,ENST00000521207,;MINCR,downstream_gene_variant,,ENST00000518073,;MINCR,downstream_gene_variant,,ENST00000519852,;GLI4,non_coding_transcript_exon_variant,,ENST00000523812,;GLI4,downstream_gene_variant,,ENST00000519876,;GLI4,downstream_gene_variant,,ENST00000522479,;GLI4,downstream_gene_variant,,ENST00000522033,;	T	ENST00000340042	Transcript	synonymous_variant	1015/1341	930/1131	310/376	L	ctC/ctT		1		1	GLI4	HGNC	HGNC:4320	protein_coding	YES	CCDS6398.1	ENSP00000345024	P10075		UPI0000070432	NM_138465.3			4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF122,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	65	143276603	143276603	C	T	1	0	0	0	0	0	0	0	1	6318	813	29	3		3	GLI4	8	143276603	Silent	SNP	C	C3N-00738_TP	31029533	143276603	1862033	93	21425											
C9orf129	0	.	GRCh38	chr9	93335621	93335621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggctgtacgggtatggacCctggcccggggcgccccctg	4	6	17	14	3	0	0	0	0	0	0	0	2	0	1	4	6	1	3	4	6	2	2	rs756990522		C3N-00738_TP	C3N-00738_NB	C	C																c.118G>T	p.Gly40Cys	p.G40C	ENST00000375419	3/5	88	80	8	146	146	0	varscan-mutect	C9orf129,missense_variant,p.Gly40Cys,ENST00000375419,NM_001098808.1;	A	ENST00000375419	Transcript	missense_variant	482/1154	118/591	40/196	G/C	Ggt/Tgt	rs756990522	1		-1	C9orf129	HGNC	HGNC:31116	protein_coding	YES	CCDS43850.1	ENSP00000364568	Q5T035		UPI000047014B	NM_001098808.1	deleterious_low_confidence(0)		3/5		hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF13,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs756990522	.												A	3	1	65	93335621	93335621	C	A	1	0	0	0	0	1	0	0	0	2172	623	22	2		2	C9orf129	9	93335621	Missense_Mutation	SNP	C	C3N-00738_TP		93335621	45059096	94	21426											
PTCHD3	0	.	GRCh38	chr10	27413415	27413415	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaggagatgctgctcaggTtgagcgttttgttcacctgc	7	12	14	8	1	2	2	2	1	0	1	2	4	2	3	1	3	4	5	1	3	1	4	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.836A>G	p.Asn279Ser	p.N279S	ENST00000438700	1/4	315	296	19	436	436	0	strelka-varscan-mutect	PTCHD3,missense_variant,p.Asn279Ser,ENST00000438700,NM_001034842.3;PTCHD3,missense_variant,p.Asn279Ser,ENST00000622555,;	C	ENST00000438700	Transcript	missense_variant	954/2529	836/2304	279/767	N/S	aAc/aGc		1		-1	PTCHD3	HGNC	HGNC:24776	protein_coding	YES	CCDS31173.1	ENSP00000417658	Q3KNS1		UPI000004E892	NM_001034842.3	tolerated(0.2)		1/4		Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	65	27413415	27413415	T	C	1	0	0	0	0	1	0	0	0	12886	1725	60	5		5	PTCHD3	10	27413415	Missense_Mutation	SNP	T	C3N-00738_TP		27413415	106384007	95	21427											
SLIT1	0	.	GRCh38	chr10	97021331	97021331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagcacaacgagcaatgcCcggttccttgtagccagtct	9	8	9	15	2	1	0	0	0	1	0	2	1	2	0	4	1	5	4	4	1	3	3	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.2665G>A	p.Gly889Ser	p.G889S	ENST00000266058	26/37	199	188	11	205	205	0	strelka-varscan-mutect	SLIT1,missense_variant,p.Gly889Ser,ENST00000266058,NM_003061.2;SLIT1,missense_variant,p.Gly889Ser,ENST00000371070,;	T	ENST00000266058	Transcript	missense_variant	2911/7925	2665/4605	889/1534	G/S	Ggc/Agc		1		-1	SLIT1	HGNC	HGNC:11085	protein_coding	YES	CCDS7453.1	ENSP00000266058	O75093		UPI00001F9491	NM_003061.2	deleterious(0)		26/37		Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF39,SMART_domains:SM00082																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	97021331	97021331	C	T	1	0	0	0	0	1	0	0	0	15030	623	22	3		3	SLIT1	10	97021331	Missense_Mutation	SNP	C	C3N-00738_TP	69607916	97021331	36776091	96	21428											
CPN1	0	.	GRCh38	chr10	100081560	100081560	+	Silent	SNP	G	G	T																															tcatagcggtggtggcgaaaGgtcaccggggcaaccaactt																								rs757598430		C3N-00738_TP	C3N-00738_NB	G	G																c.66C>A	p.=	p.T22T	ENST00000370418	1/9	470	424	46	584	582	2	strelka-varscan-mutect	CPN1,synonymous_variant,p.=,ENST00000370418,NM_001308.2;	T	ENST00000370418	Transcript	synonymous_variant	318/1863	66/1377	22/458	T	acC/acA	rs757598430	1		-1	CPN1	HGNC	HGNC:2312	protein_coding	YES	CCDS7486.1	ENSP00000359446	P15169		UPI00000012AC	NM_001308.2			1/9		hmmpanther:PTHR11532:SF7,hmmpanther:PTHR11532,Gene3D:3.40.630.10,Superfamily_domains:SSF53187																	LOW	1	SNV	1			1										PASS		rs757598430	.												T	2	4	65	100081560	100081560	G	T	1	0	0	0	0	0	0	0	1	3604	987	35	2		2	CPN1	10	100081560	Silent	SNP	G	C3N-00738_TP	3060229	100081560	33715862	97	21429	456	2									
CPN1	0	.	GRCh38	chr10	100081561	100081561	+	Missense_Mutation	SNP	G	G	T																															catagcggtggtggcgaaagGtcaccggggcaaccaacttg																								novel		C3N-00738_TP	C3N-00738_NB	G	G																c.65C>A	p.Thr22Asn	p.T22N	ENST00000370418	1/9	465	421	44	581	581	0	strelka-varscan-mutect	CPN1,missense_variant,p.Thr22Asn,ENST00000370418,NM_001308.2;	T	ENST00000370418	Transcript	missense_variant	317/1863	65/1377	22/458	T/N	aCc/aAc		1		-1	CPN1	HGNC	HGNC:2312	protein_coding	YES	CCDS7486.1	ENSP00000359446	P15169		UPI00000012AC	NM_001308.2	tolerated(0.49)		1/9		hmmpanther:PTHR11532:SF7,hmmpanther:PTHR11532,Gene3D:3.40.630.10,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		rs1303067171	.												T	3	4	65	100081561	100081561	G	T	1	0	0	0	0	1	0	0	0	3604	1261	44	2		2	CPN1	10	100081561	Missense_Mutation	SNP	G	C3N-00738_TP	1	100081561	33715861	98	21430	456	2									
NLRP6	0	.	GRCh38	chr11	281780	281780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgcagattggttgctgcGcaggagaagaagaagaagag	14	6	16	5	1	0	6	0	0	0	6	0	7	0	6	0	2	4	5	0	2	4	2	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.2046G>A	p.=	p.A682A	ENST00000312165	4/8	81	70	11	99	99	0	strelka-varscan-mutect	NLRP6,synonymous_variant,p.=,ENST00000534750,NM_001276700.1;NLRP6,synonymous_variant,p.=,ENST00000312165,NM_138329.2;NLRP6,downstream_gene_variant,,ENST00000527946,;	A	ENST00000312165	Transcript	synonymous_variant	2046/2679	2046/2679	682/892	A	gcG/gcA		1		1	NLRP6	HGNC	HGNC:22944	protein_coding	YES	CCDS7693.1	ENSP00000309767	P59044		UPI00001AEFE1	NM_138329.2			4/8		Gene3D:3.80.10.10																	LOW	1	SNV	1			1										PASS		rs1226772781	.												A	2	1	65	281780	281780	G	A	1	0	0	0	0	0	0	0	1	10519	1074	38	1		1	NLRP6	11	281780	Silent	SNP	G	C3N-00738_TP		281780	134804842	99	21431											
B4GALNT4	0	.	GRCh38	chr11	379463	379463	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtggagaagcgccgggaCtcggcgcgagggagtcgctt	8	5	18	10	7	0	1	0	0	0	1	2	5	0	3	1	4	2	1	1	4	2	1	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.2250C>G	p.Asp750Glu	p.D750E	ENST00000329962	15/20	115	104	11	123	122	1	strelka-varscan-mutect	B4GALNT4,missense_variant,p.Asp750Glu,ENST00000329962,NM_178537.4;B4GALNT4,upstream_gene_variant,,ENST00000534778,;B4GALNT4,upstream_gene_variant,,ENST00000526584,;B4GALNT4,downstream_gene_variant,,ENST00000524443,;	G	ENST00000329962	Transcript	missense_variant	2250/3444	2250/3120	750/1039	D/E	gaC/gaG		1		1	B4GALNT4	HGNC	HGNC:26315	protein_coding	YES	CCDS7694.1	ENSP00000328277	Q76KP1		UPI00002326B6	NM_178537.4	deleterious(0)		15/20		Pfam_domain:PF05679,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF9																	MODERATE	1	SNV	1			1										PASS		rs946166688	.												G	3	3	65	379463	379463	C	G	1	0	0	0	0	1	0	0	0	1425	564	20	4		4	B4GALNT4	11	379463	Missense_Mutation	SNP	C	C3N-00738_TP	97683	379463	134707159	100	21432											
OR52D1	0	.	GRCh38	chr11	5489243	5489243	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaccgtgtcatgacacaCacatactgtgagcatatggg	11	9	11	10	1	2	2	2	2	0	0	2	2	2	2	1	2	2	1	1	2	2	2	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.537C>A	p.His179Gln	p.H179Q	ENST00000322641	1/1	228	208	20	308	308	0	strelka-varscan-mutect	OR52D1,missense_variant,p.His179Gln,ENST00000322641,NM_001005163.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	A	ENST00000322641	Transcript	missense_variant	559/1065	537/957	179/318	H/Q	caC/caA		1		1	OR52D1	HGNC	HGNC:15212	protein_coding	YES	CCDS31384.1	ENSP00000326232	Q9H346	A0A126GVG9	UPI0000041DD3	NM_001005163.2	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF75,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												A	3	1	65	5489243	5489243	C	A	1	0	0	0	0	1	0	0	0	11186	477	17	2		2	OR52D1	11	5489243	Missense_Mutation	SNP	C	C3N-00738_TP	5109780	5489243	129597379	101	21433											
OR56B4	0	.	GRCh38	chr11	6108123	6108123	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatccactgcttcttctgCatagagtcaggcatctttct	7	14	7	13	0	5	1	1	0	4	1	6	1	6	1	2	1	2	3	2	1	1	4	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.345C>G	p.Cys115Trp	p.C115W	ENST00000316529	1/1	285	256	29	372	372	0	strelka-varscan-mutect	OR56B4,missense_variant,p.Cys115Trp,ENST00000316529,NM_001005181.2;RP11-290F24.3,downstream_gene_variant,,ENST00000529961,;	G	ENST00000316529	Transcript	missense_variant	440/1152	345/960	115/319	C/W	tgC/tgG		1		1	OR56B4	HGNC	HGNC:15248	protein_coding	YES	CCDS31406.1	ENSP00000321196	Q8NH76		UPI000004B214	NM_001005181.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF142,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		rs1487684441	.												G	3	3	65	6108123	6108123	C	G	1	0	0	0	0	1	0	0	0	11210	718	25	4		4	OR56B4	11	6108123	Missense_Mutation	SNP	C	C3N-00738_TP	618880	6108123	128978499	102	21434											
CCKBR	0	.	GRCh38	chr11	6271475	6271475	+	Missense_Mutation	SNP	C	C	A																															ctcttcccgatgaggaccctCccactccctccattgcttcg																								novel		C3N-00738_TP	C3N-00738_NB	C	C																c.1276C>A	p.Pro426Thr	p.P426T	ENST00000334619	5/5	98	82	16	116	115	1	strelka-mutect	CCKBR,missense_variant,p.Pro495Thr,ENST00000525462,;CCKBR,missense_variant,p.Pro426Thr,ENST00000334619,NM_176875.3;CCKBR,missense_variant,p.Pro342Thr,ENST00000532715,;CCKBR,downstream_gene_variant,,ENST00000525014,;CCKBR,downstream_gene_variant,,ENST00000531712,;CCKBR,downstream_gene_variant,,ENST00000532396,;	A	ENST00000334619	Transcript	missense_variant	1469/2121	1276/1344	426/447	P/T	Ccc/Acc		1		1	CCKBR	HGNC	HGNC:1571	protein_coding	YES	CCDS7761.1	ENSP00000335544	P32239		UPI0000000C18	NM_176875.3	tolerated(0.63)		5/5		hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF45,Prints_domain:PR00527																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	65	6271475	6271475	C	A	1	0	0	0	0	1	0	0	0	2579	855	30	2		2	CCKBR	11	6271475	Missense_Mutation	SNP	C	C3N-00738_TP	163352	6271475	128815147	103	21435	457	2									
CCKBR	0	.	GRCh38	chr11	6271476	6271476	+	Missense_Mutation	SNP	C	C	A																															tcttcccgatgaggaccctcCcactccctccattgcttcgc																								novel		C3N-00738_TP	C3N-00738_NB	C	C																c.1277C>A	p.Pro426His	p.P426H	ENST00000334619	5/5	97	82	15	114	114	0	strelka-mutect	CCKBR,missense_variant,p.Pro495His,ENST00000525462,;CCKBR,missense_variant,p.Pro426His,ENST00000334619,NM_176875.3;CCKBR,missense_variant,p.Pro342His,ENST00000532715,;CCKBR,downstream_gene_variant,,ENST00000525014,;CCKBR,downstream_gene_variant,,ENST00000531712,;CCKBR,downstream_gene_variant,,ENST00000532396,;	A	ENST00000334619	Transcript	missense_variant	1470/2121	1277/1344	426/447	P/H	cCc/cAc		1		1	CCKBR	HGNC	HGNC:1571	protein_coding	YES	CCDS7761.1	ENSP00000335544	P32239		UPI0000000C18	NM_176875.3	tolerated(0.17)		5/5		hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF45,Prints_domain:PR00527																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	65	6271476	6271476	C	A	1	0	0	0	0	1	0	0	0	2579	623	22	2		2	CCKBR	11	6271476	Missense_Mutation	SNP	C	C3N-00738_TP	1	6271476	128815146	104	21436	457	2									
NUCB2	0	.	GRCh38	chr11	17311210	17311210	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggaagcaaagatcaactAaaagaggtatgggaagagac	19	4	13	5	0	1	3	1	0	0	3	1	6	1	5	0	3	2	2	0	3	7	2	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.687A>G	p.=	p.L229L	ENST00000529010	8/14	125	110	15	208	208	0	strelka-mutect	NUCB2,synonymous_variant,p.=,ENST00000529010,NM_005013.2;NUCB2,synonymous_variant,p.=,ENST00000323688,;NUCB2,synonymous_variant,p.=,ENST00000622082,;NUCB2,synonymous_variant,p.=,ENST00000458064,;NUCB2,synonymous_variant,p.=,ENST00000527580,;NUCB2,downstream_gene_variant,,ENST00000530527,;NUCB2,downstream_gene_variant,,ENST00000529313,;NUCB2,upstream_gene_variant,,ENST00000527735,;NUCB2,synonymous_variant,p.=,ENST00000533773,;NUCB2,upstream_gene_variant,,ENST00000531242,;	G	ENST00000529010	Transcript	synonymous_variant	906/2274	687/1263	229/420	L	ctA/ctG		1		1	NUCB2	HGNC	HGNC:8044	protein_coding	YES	CCDS41623.1	ENSP00000436455		V9HW75	UPI000012FE2C	NM_005013.2			8/14		Gene3D:1.10.238.10,hmmpanther:PTHR19237,hmmpanther:PTHR19237:SF22																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	65	17311210	17311210	A	G	1	0	0	0	0	0	0	0	1	10785	349	13	5		5	NUCB2	11	17311210	Silent	SNP	A	C3N-00738_TP	11039734	17311210	117775412	105	21437											
MPEG1	0	.	GRCh38	chr11	59211292	59211292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacccgccaaaggggaccGcaaacctgcttcccaactca	13	4	8	16	2	1	1	1	0	0	1	2	2	2	2	5	2	4	2	5	2	4	1	rs199736754		C3N-00738_TP	C3N-00738_NB	G	G																c.1574C>T	p.Ala525Val	p.A525V	ENST00000361050	1/1	199	182	17	249	249	0	strelka-varscan-mutect	MPEG1,missense_variant,p.Ala525Val,ENST00000361050,NM_001039396.1;DTX4,downstream_gene_variant,,ENST00000227451,NM_015177.1;RN7SL42P,downstream_gene_variant,,ENST00000579786,;	A	ENST00000361050	Transcript	missense_variant	1660/4442	1574/2151	525/716	A/V	gCg/gTg	rs199736754,COSM928993	1		-1	MPEG1	HGNC	HGNC:29619	protein_coding	YES	CCDS41650.1	ENSP00000354335	Q2M385		UPI0000049D9F	NM_001039396.1	deleterious(0.02)		1/1		hmmpanther:PTHR31463,hmmpanther:PTHR31463:SF4											0,1						MODERATE		SNV			0,1	1										PASS		rs199736754	.												A	3	1	65	59211292	59211292	G	A	1	0	0	0	0	1	0	0	0	9688	1087	38	1		1	MPEG1	11	59211292	Missense_Mutation	SNP	G	C3N-00738_TP	41900082	59211292	75875330	106	21438											
ATL3	0	.	GRCh38	chr11	63644228	63644228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccatagctatattcataagGgaaactccaatctctaacca	15	11	4	11	0	2	0	1	0	1	0	5	1	4	1	3	1	3	1	3	1	7	6	rs554468070		C3N-00738_TP	C3N-00738_NB	G	G																c.652C>G	p.Pro218Ala	p.P218A	ENST00000398868	7/13	278	253	25	311	311	0	strelka-varscan-mutect	ATL3,missense_variant,p.Pro218Ala,ENST00000398868,NM_015459.4;ATL3,missense_variant,p.Pro200Ala,ENST00000538786,NM_001290048.1;RP11-697H9.2,intron_variant,,ENST00000540307,;	C	ENST00000398868	Transcript	missense_variant	929/7135	652/1626	218/541	P/A	Cct/Gct	rs554468070	1		-1	ATL3	HGNC	HGNC:24526	protein_coding	YES	CCDS41663.1	ENSP00000381844	Q6DD88		UPI0000071A21	NM_015459.4	tolerated(0.07)		7/13		PROSITE_profiles:PS51715,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF32,Pfam_domain:PF02263,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs554468070	.												C	3	2	65	63644228	63644228	G	C	1	0	0	0	0	1	0	0	0	1260	1232	43	4		4	ATL3	11	63644228	Missense_Mutation	SNP	G	C3N-00738_TP	4432936	63644228	71442394	107	21439											
ATG16L2	0	.	GRCh38	chr11	72828481	72828481	+	Frame_Shift_Del	DEL	G	G	-																															actcaaggtcatcgacctgcGtgtcagcaacatccgccagg																								rs775912740		C3N-00738_TP	C3N-00738_NB	G	G																c.1595delG	p.Arg532LeufsTer76	p.R532Lfs*76	ENST00000321297	15/18	172	154	18	184	184	0	sindel-varindel-pindel	ATG16L2,frameshift_variant,p.Arg532LeufsTer76,ENST00000321297,NM_033388.1;ATG16L2,frameshift_variant,p.Cys148ValfsTer39,ENST00000534905,;ATG16L2,frameshift_variant,p.Arg363LeufsTer76,ENST00000541367,;ATG16L2,frameshift_variant,p.Arg363LeufsTer42,ENST00000538973,;ATG16L2,frameshift_variant,p.Arg310LeufsTer76,ENST00000540222,;ATG16L2,downstream_gene_variant,,ENST00000535830,;ATG16L2,downstream_gene_variant,,ENST00000541554,;ATG16L2,3_prime_UTR_variant,,ENST00000544490,;ATG16L2,3_prime_UTR_variant,,ENST00000435507,NM_001318766.1;ATG16L2,non_coding_transcript_exon_variant,,ENST00000536995,;ATG16L2,non_coding_transcript_exon_variant,,ENST00000439504,;ATG16L2,downstream_gene_variant,,ENST00000542908,;ATG16L2,downstream_gene_variant,,ENST00000537212,;ATG16L2,downstream_gene_variant,,ENST00000537837,;ATG16L2,downstream_gene_variant,,ENST00000542481,;ATG16L2,downstream_gene_variant,,ENST00000541999,;	-	ENST00000321297	Transcript	frameshift_variant	1733/2243	1595/1860	532/619	R/X	cGt/ct	rs775912740,COSM4757323	1		1	ATG16L2	HGNC	HGNC:25464	protein_coding	YES	CCDS31634.1	ENSP00000326340	Q8NAA4		UPI0000140B06	NM_033388.1			15/18		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR19878,hmmpanther:PTHR19878:SF7,Superfamily_domains:SSF50978											0,1						HIGH	1	deletion	1		0,1	1										PASS		.	.												-	7	5	65	72828481	72828481	G	-	1	0	1	0	1	0	0	0	0	1244	1145	40	0		0	ATG16L2	11	72828481	Frame_Shift_Del	DEL	G	C3N-00738_TP	9184253	72828481	62258141	108	21440											
MYO7A	0	.	GRCh38	chr11	77175440	77175440	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccacgatgactggcagatAggcaaaaccaagatctttct	14	8	8	11	1	2	3	0	1	2	2	2	4	2	3	2	2	1	2	2	2	4	2	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.2163A>T	p.=	p.I721I	ENST00000409709	18/49	232	220	12	194	194	0	strelka-mutect	MYO7A,synonymous_variant,p.=,ENST00000409709,NM_000260.3;MYO7A,synonymous_variant,p.=,ENST00000458637,NM_001127180.1;MYO7A,synonymous_variant,p.=,ENST00000409619,;MYO7A,synonymous_variant,p.=,ENST00000409893,NM_001127179.2;MYO7A,synonymous_variant,p.=,ENST00000620575,;MYO7A,upstream_gene_variant,,ENST00000458169,;MYO7A,upstream_gene_variant,,ENST00000481328,;	T	ENST00000409709	Transcript	synonymous_variant	2435/7462	2163/6648	721/2215	I	atA/atT		1		1	MYO7A	HGNC	HGNC:7606	protein_coding	YES	CCDS53683.1	ENSP00000386331	Q13402		UPI00001FAFE6	NM_000260.3			18/49		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF369,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	65	77175440	77175440	A	T	1	0	0	0	0	0	0	0	1	10083	410	15	4		4	MYO7A	11	77175440	Silent	SNP	A	C3N-00738_TP	4346959	77175440	57911182	109	21441											
RDX	0	.	GRCh38	chr11	110232005	110232005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttttcttggtttcatctCtggcttgggctaattctgaa	5	19	10	7	0	4	1	1	1	3	0	5	1	4	1	0	3	0	4	0	3	2	7	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.1616G>T	p.Arg539Ile	p.R539I	ENST00000405097	14/16	393	353	40	469	469	0	strelka-varscan-mutect	RDX,splice_acceptor_variant,,ENST00000530301,NM_001260496.1;RDX,missense_variant,p.Arg539Ile,ENST00000343115,NM_002906.3;RDX,missense_variant,p.Arg403Ile,ENST00000544551,NM_001260494.1;RDX,missense_variant,p.Arg539Ile,ENST00000405097,NM_001260492.1;RDX,missense_variant,p.Arg539Ile,ENST00000528498,NM_001260493.1;RDX,missense_variant,p.Arg192Ile,ENST00000528900,NM_001260495.1;RDX,non_coding_transcript_exon_variant,,ENST00000530085,;RDX,missense_variant,p.Arg539Ile,ENST00000530749,;RDX,3_prime_UTR_variant,,ENST00000530131,;RDX,non_coding_transcript_exon_variant,,ENST00000527537,;RDX,non_coding_transcript_exon_variant,,ENST00000532461,;RDX,non_coding_transcript_exon_variant,,ENST00000533961,;	A	ENST00000405097	Transcript	missense_variant	1926/2761	1616/1815	539/604	R/I	aGa/aTa		1		-1	RDX	HGNC	HGNC:9944	protein_coding	YES	CCDS58174.1	ENSP00000384136	P35241		UPI0000EE3914	NM_001260492.1	deleterious(0.01)		14/16		Superfamily_domains:0036951,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00769,PIRSF_domain:PIRSF002305,Prints_domain:PR00661,hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	65	110232005	110232005	C	A	1	0	0	0	0	1	0	0	0	13367	927	32	2		2	RDX	11	110232005	Missense_Mutation	SNP	C	C3N-00738_TP	33056565	110232005	24854617	110	21442											
CACNA1C	0	.	GRCh38	chr12	2677731	2677731	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctccccttggattccAggctggcttgcgcacactgc	5	10	9	17	1	0	0	0	0	0	0	3	1	3	1	5	3	2	3	5	3	0	3	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.5101-2A>T		p.X1701_splice	ENST00000347598		115	106	9	137	137	0	strelka-varscan-mutect	CACNA1C,splice_acceptor_variant,,ENST00000399655,NM_000719.6;CACNA1C,splice_acceptor_variant,,ENST00000399634,NM_001167625.1;CACNA1C,splice_acceptor_variant,,ENST00000406454,;CACNA1C,splice_acceptor_variant,,ENST00000399617,NM_001167624.2;CACNA1C,splice_acceptor_variant,,ENST00000399603,NM_001167623.1;CACNA1C,splice_acceptor_variant,,ENST00000335762,;CACNA1C,splice_acceptor_variant,,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,splice_acceptor_variant,,ENST00000344100,NM_001129829.1;CACNA1C,splice_acceptor_variant,,ENST00000327702,NM_001129830.2;CACNA1C,splice_acceptor_variant,,ENST00000399638,NM_001129831.1;CACNA1C,splice_acceptor_variant,,ENST00000399606,NM_001129832.1;CACNA1C,splice_acceptor_variant,,ENST00000399621,NM_001129834.1;CACNA1C,splice_acceptor_variant,,ENST00000399637,NM_001129835.1;CACNA1C,splice_acceptor_variant,,ENST00000402845,NM_001129833.1;CACNA1C,splice_acceptor_variant,,ENST00000399629,NM_001129836.1;CACNA1C,splice_acceptor_variant,,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,splice_acceptor_variant,,ENST00000399595,NM_001129837.1;CACNA1C,splice_acceptor_variant,,ENST00000399649,NM_001129839.1;CACNA1C,splice_acceptor_variant,,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,splice_acceptor_variant,,ENST00000399601,NM_001129843.1;CACNA1C,splice_acceptor_variant,,ENST00000399641,NM_001129840.1;CACNA1C,splice_acceptor_variant,,ENST00000399644,NM_001129841.1;CACNA1C,splice_acceptor_variant,,ENST00000616390,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000501371,;CACNA1C,splice_acceptor_variant,,ENST00000465934,;	T	ENST00000347598	Transcript	splice_acceptor_variant	-/6655	5101/6561	1701/2186				1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3				42/48																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	65	2677731	2677731	A	T	1	0	0	0	0	0	0	1	0	2228	202	7	4		4	CACNA1C	12	2677731	Splice_Site	SNP	A	C3N-00738_TP		2677731	130597578	111	21443											
FGF23	0	.	GRCh38	chr12	4379542	4379542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctcatgctgcagacgctgCacaaggcacagacccagagc	11	4	11	15	2	1	3	1	0	0	3	1	3	1	3	1	1	4	6	1	1	1	0	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.41G>C	p.Cys14Ser	p.C14S	ENST00000237837	1/3	264	241	23	380	380	0	strelka-varscan-mutect	FGF23,missense_variant,p.Cys14Ser,ENST00000237837,NM_020638.2;	G	ENST00000237837	Transcript	missense_variant	187/3018	41/756	14/251	C/S	tGc/tCc		1		-1	FGF23	HGNC	HGNC:3680	protein_coding	YES	CCDS8526.1	ENSP00000237837	Q9GZV9		UPI000003ED58	NM_020638.2	tolerated(0.14)		1/3		hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF69,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs1366675674	.												G	3	3	65	4379542	4379542	C	G	1	0	0	0	0	1	0	0	0	5716	710	25	4		4	FGF23	12	4379542	Missense_Mutation	SNP	C	C3N-00738_TP	1701811	4379542	128895767	112	21444											
SCN8A	0	.	GRCh38	chr12	51762643	51762643	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactgagtctagcagacgtGgaggggctttcagtgctgcg	8	9	16	8	2	2	2	1	1	1	1	2	4	2	3	0	3	4	3	0	3	2	2			C3N-00738_TP	C3N-00738_NB	G	G																c.2511G>T	p.=	p.V837V	ENST00000354534	15/27	202	184	18	276	276	0	strelka-varscan-mutect	SCN8A,synonymous_variant,p.=,ENST00000354534,NM_014191.3;SCN8A,synonymous_variant,p.=,ENST00000545061,NM_001177984.2;SCN8A,synonymous_variant,p.=,ENST00000599343,;SCN8A,synonymous_variant,p.=,ENST00000627620,;SCN8A,synonymous_variant,p.=,ENST00000355133,;SCN8A,synonymous_variant,p.=,ENST00000636945,;SCN8A,3_prime_UTR_variant,,ENST00000637709,;SCN8A,non_coding_transcript_exon_variant,,ENST00000550891,;	T	ENST00000354534	Transcript	synonymous_variant	2689/11556	2511/5943	837/1980	V	gtG/gtT	COSM5682753,COSM5682754	1		1	SCN8A	HGNC	HGNC:10596	protein_coding	YES	CCDS44891.1	ENSP00000346534	Q9UQD0		UPI000006FD85	NM_014191.3			15/27		hmmpanther:PTHR10037:SF23,hmmpanther:PTHR10037,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	65	51762643	51762643	G	T	1	0	0	0	0	0	0	0	1	14193	1335	47	2		2	SCN8A	12	51762643	Silent	SNP	G	C3N-00738_TP	47383101	51762643	81512666	113	21445											
HOXC12	0	.	GRCh38	chr12	53955132	53955132	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatggctacccgcagccctAcctcggcagcccagtgtctc	7	7	9	18	2	1	0	0	0	1	0	3	0	1	0	4	2	4	3	4	2	3	2	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.203A>T	p.Tyr68Phe	p.Y68F	ENST00000243103	1/2	365	340	25	373	373	0	strelka-varscan-mutect	HOXC12,missense_variant,p.Tyr68Phe,ENST00000243103,NM_173860.1;	T	ENST00000243103	Transcript	missense_variant	299/3335	203/849	68/282	Y/F	tAc/tTc		1		1	HOXC12	HGNC	HGNC:5124	protein_coding	YES	CCDS8866.1	ENSP00000243103	P31275		UPI000012CF7E	NM_173860.1	tolerated(0.16)		1/2		hmmpanther:PTHR24326:SF164,hmmpanther:PTHR24326																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	65	53955132	53955132	A	T	1	0	0	0	0	1	0	0	0	7205	391	14	4		4	HOXC12	12	53955132	Missense_Mutation	SNP	A	C3N-00738_TP	2192489	53955132	79320177	114	21446											
IRAK3	0	.	GRCh38	chr12	66245211	66245211	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgccaagctcttctgtttGgcaggccggtgtgctgcaac	5	12	12	12	1	3	0	0	0	3	0	3	0	3	0	2	3	5	5	2	3	2	2	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.1263G>A	p.=	p.L421L	ENST00000261233	11/12	267	244	23	352	352	0	strelka-varscan-mutect	IRAK3,synonymous_variant,p.=,ENST00000261233,NM_007199.2;IRAK3,synonymous_variant,p.=,ENST00000457197,NM_001142523.1;	A	ENST00000261233	Transcript	synonymous_variant	1684/8663	1263/1791	421/596	L	ttG/ttA		1		1	IRAK3	HGNC	HGNC:17020	protein_coding	YES	CCDS8975.1	ENSP00000261233	Q9Y616		UPI000013D14A	NM_007199.2			11/12		PROSITE_profiles:PS50011,hmmpanther:PTHR24419:SF7,hmmpanther:PTHR24419,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	65	66245211	66245211	G	A	1	0	0	0	0	0	0	0	1	7730	1339	47	3		3	IRAK3	12	66245211	Silent	SNP	G	C3N-00738_TP	12290079	66245211	67030098	115	21447											
CEP290	0	.	GRCh38	chr12	88131194	88131194	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttgctgttttcattttCtgcctcctcatttcgaagag	7	19	6	9	1	3	1	2	0	1	1	5	2	4	1	2	0	2	2	2	0	2	7	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.466G>T	p.Glu156Ter	p.E156*	ENST00000552810	7/54	104	98	6	130	130	0	strelka-varscan-mutect	CEP290,stop_gained,p.Glu156Ter,ENST00000552810,NM_025114.3;CEP290,stop_gained,p.Glu156Ter,ENST00000309041,;CEP290,stop_gained,p.Glu156Ter,ENST00000397838,;CEP290,intron_variant,,ENST00000550962,;CEP290,upstream_gene_variant,,ENST00000604024,;CEP290,downstream_gene_variant,,ENST00000552770,;CEP290,stop_gained,p.Glu122Ter,ENST00000547926,;	A	ENST00000552810	Transcript	stop_gained	810/7948	466/7440	156/2479	E/*	Gaa/Taa		1		-1	CEP290	HGNC	HGNC:29021	protein_coding	YES	CCDS55858.1	ENSP00000448012	O15078		UPI0000D60D15	NM_025114.3			7/54		Low_complexity_(Seg):seg,hmmpanther:PTHR18879:SF20,hmmpanther:PTHR18879,Coiled-coils_(Ncoils):Coil																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	65	88131194	88131194	C	A	1	0	0	0	0	0	1	0	0	2969	922	32	2		2	CEP290	12	88131194	Nonsense_Mutation	SNP	C	C3N-00738_TP	21885983	88131194	45144115	116	21448											
NDUFA12	0	.	GRCh38	chr12	94971592	94971592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttgttgttggaggatCatcagtcatactgtgaagcc	8	15	12	6	0	3	1	3	1	0	0	3	3	3	3	1	3	2	3	1	3	2	5	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.286G>T	p.Asp96Tyr	p.D96Y	ENST00000327772	4/4	384	340	44	530	528	2	strelka-varscan-mutect	NDUFA12,missense_variant,p.Asp96Tyr,ENST00000327772,NM_018838.4;NDUFA12,3_prime_UTR_variant,,ENST00000547986,NM_001258338.1;NDUFA12,intron_variant,,ENST00000547157,;NDUFA12,non_coding_transcript_exon_variant,,ENST00000550187,;NDUFA12,3_prime_UTR_variant,,ENST00000546788,;NDUFA12,3_prime_UTR_variant,,ENST00000551991,;NDUFA12,non_coding_transcript_exon_variant,,ENST00000538372,;NDUFA12,intron_variant,,ENST00000552205,;	A	ENST00000327772	Transcript	missense_variant	376/635	286/438	96/145	D/Y	Gat/Tat		1		-1	NDUFA12	HGNC	HGNC:23987	protein_coding	YES	CCDS9050.1	ENSP00000330737	Q9UI09		UPI000012FC31	NM_018838.4	deleterious(0.03)		4/4		Pfam_domain:PF05071,hmmpanther:PTHR12910,hmmpanther:PTHR12910:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	65	94971592	94971592	C	A	1	0	0	0	0	1	0	0	0	10283	826	29	2		2	NDUFA12	12	94971592	Missense_Mutation	SNP	C	C3N-00738_TP	6840398	94971592	38303717	117	21449											
UHRF1BP1L	0	.	GRCh38	chr12	100037696	100037696	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttccaagtgagcctcTgcaagagccattttagcttt	8	16	7	10	0	2	2	0	1	2	1	3	2	3	2	3	0	4	2	3	0	3	5	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.4335A>G	p.=	p.A1445A	ENST00000279907	21/21	154	145	9	220	220	0	varscan-mutect	UHRF1BP1L,synonymous_variant,p.=,ENST00000279907,NM_015054.1;UHRF1BP1L,synonymous_variant,p.=,ENST00000545232,;UHRF1BP1L,intron_variant,,ENST00000548712,;RP11-135F9.3,upstream_gene_variant,,ENST00000623268,;	C	ENST00000279907	Transcript	synonymous_variant	4548/5168	4335/4395	1445/1464	A	gcA/gcG		1		-1	UHRF1BP1L	HGNC	HGNC:29102	protein_coding	YES	CCDS31882.1	ENSP00000279907	A0JNW5		UPI0000160563	NM_015054.1			21/21		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22774,hmmpanther:PTHR22774:SF17,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	65	100037696	100037696	T	C	1	0	0	0	0	0	0	0	1	17493	1567	55	5		5	UHRF1BP1L	12	100037696	Silent	SNP	T	C3N-00738_TP	5066104	100037696	33237613	118	21450											
HIP1R	0	.	GRCh38	chr12	122860450	122860450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgcagcaggaattttacGccaagaactcgcgctggacc	11	6	10	14	4	0	1	0	0	0	1	1	3	0	3	3	2	3	3	3	2	4	2			C3N-00738_TP	C3N-00738_NB	G	G																c.2587G>C	p.Ala863Pro	p.A863P	ENST00000253083	27/32	179	165	14	220	220	0	strelka-varscan-mutect	HIP1R,missense_variant,p.Ala863Pro,ENST00000253083,NM_003959.2;HIP1R,intron_variant,,ENST00000535012,;VPS37B,downstream_gene_variant,,ENST00000267202,NM_024667.2;RP11-463O12.3,upstream_gene_variant,,ENST00000537827,;HIP1R,upstream_gene_variant,,ENST00000537322,;HIP1R,non_coding_transcript_exon_variant,,ENST00000536617,;HIP1R,non_coding_transcript_exon_variant,,ENST00000538236,;HIP1R,downstream_gene_variant,,ENST00000535831,;HIP1R,downstream_gene_variant,,ENST00000452196,;HIP1R,downstream_gene_variant,,ENST00000536847,;HIP1R,downstream_gene_variant,,ENST00000541712,;	C	ENST00000253083	Transcript	missense_variant	2712/4539	2587/3207	863/1068	A/P	Gcc/Ccc	COSM1561795	1		1	HIP1R	HGNC	HGNC:18415	protein_coding	YES	CCDS31922.1	ENSP00000253083	O75146		UPI000012C72C	NM_003959.2	deleterious(0)		27/32		Gene3D:1r0dB00,PD011820,Pfam_domain:PF01608,PROSITE_profiles:PS50945,hmmpanther:PTHR10407,hmmpanther:PTHR10407:SF10,SMART_domains:SM00307,Superfamily_domains:SSF109885											1						MODERATE	1	SNV	1		1	1										PASS		rs1362881983	.												C	3	2	65	122860450	122860450	G	C	1	0	0	0	0	1	0	0	0	7003	1087	38	4		4	HIP1R	12	122860450	Missense_Mutation	SNP	G	C3N-00738_TP	22822754	122860450	10414859	119	21451											
MPHOSPH9	0	.	GRCh38	chr12	123156862	123156862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttagcgtcatgcgaactGaacccagttctcgattaatc	10	13	7	11	3	3	1	1	1	2	0	5	3	3	1	1	0	4	1	1	0	4	4	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.3497C>T	p.Ser1166Leu	p.S1166L	ENST00000606320	24/24	151	141	10	170	170	0	strelka-varscan-mutect	MPHOSPH9,missense_variant,p.Ser1166Leu,ENST00000606320,NM_022782.3;MPHOSPH9,missense_variant,p.Ser1136Leu,ENST00000541076,;MPHOSPH9,intron_variant,,ENST00000541603,;RP11-546D6.3,upstream_gene_variant,,ENST00000625082,;MPHOSPH9,upstream_gene_variant,,ENST00000544217,;MPHOSPH9,3_prime_UTR_variant,,ENST00000545556,;MPHOSPH9,3_prime_UTR_variant,,ENST00000302373,;MPHOSPH9,3_prime_UTR_variant,,ENST00000606704,;MPHOSPH9,non_coding_transcript_exon_variant,,ENST00000545974,;MPHOSPH9,downstream_gene_variant,,ENST00000539024,;MPHOSPH9,downstream_gene_variant,,ENST00000536198,;	A	ENST00000606320	Transcript	missense_variant	3704/6351	3497/3552	1166/1183	S/L	tCa/tTa		1		-1	MPHOSPH9	HGNC	HGNC:7215	protein_coding	YES	CCDS9243.2	ENSP00000475489	Q99550		UPI00001FB90F	NM_022782.3	tolerated(0.07)		24/24		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14926,hmmpanther:PTHR14926:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	65	123156862	123156862	G	A	1	0	0	0	0	1	0	0	0	9693	1294	45	3		3	MPHOSPH9	12	123156862	Missense_Mutation	SNP	G	C3N-00738_TP	296412	123156862	10118447	120	21452											
NCOR2	0	.	GRCh38	chr12	124327439	124327439	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtgtggtcactccgtcCgtcagcagcggttatgggca	6	10	15	10	3	2	0	2	0	0	0	4	1	4	0	2	3	2	3	2	3	1	1	rs373620221		C3N-00738_TP	C3N-00738_NB	C	C																c.7153G>T	p.Gly2385Ter	p.G2385*	ENST00000405201	45/47	100	94	6	144	144	0	strelka-varscan-mutect	NCOR2,stop_gained,p.Gly2385Ter,ENST00000405201,NM_006312.5;NCOR2,stop_gained,p.Gly2375Ter,ENST00000429285,NM_001206654.1;NCOR2,stop_gained,p.Gly1950Ter,ENST00000356219,;NCOR2,stop_gained,p.Gly1933Ter,ENST00000404121,;NCOR2,stop_gained,p.Gly50Ter,ENST00000413172,;NCOR2,intron_variant,,ENST00000404621,NM_001077261.3;NCOR2,intron_variant,,ENST00000418829,;NCOR2,downstream_gene_variant,,ENST00000440337,;NCOR2,non_coding_transcript_exon_variant,,ENST00000464377,;NCOR2,intron_variant,,ENST00000443451,;NCOR2,downstream_gene_variant,,ENST00000461081,;	A	ENST00000405201	Transcript	stop_gained	7154/8533	7153/7545	2385/2514	G/*	Gga/Tga	rs373620221	1		-1	NCOR2	HGNC	HGNC:7673	protein_coding	YES	CCDS41858.2	ENSP00000384018		C9JFD3	UPI000013D737	NM_006312.5			45/47		hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF21																	HIGH	1	SNV	1			1										PASS		rs373620221	.												A	4	1	65	124327439	124327439	C	A	1	0	0	0	0	0	1	0	0	10255	661	23	1		1	NCOR2	12	124327439	Nonsense_Mutation	SNP	C	C3N-00738_TP	1170577	124327439	8947870	121	21453											
SLC15A4	0	.	GRCh38	chr12	128814787	128814787	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttacccattactctggCgctctccacttcgcttctgg	4	14	8	15	2	3	0	0	0	3	0	5	0	3	0	2	2	3	3	2	2	2	4	rs199661368		C3N-00738_TP	C3N-00738_NB	C	C																c.830G>C	p.Arg277Pro	p.R277P	ENST00000266771	2/8	95	87	8	163	163	0	strelka-varscan-mutect	SLC15A4,missense_variant,p.Arg277Pro,ENST00000266771,NM_145648.3;SLC15A4,5_prime_UTR_variant,,ENST00000614634,;SLC15A4,non_coding_transcript_exon_variant,,ENST00000539703,;RP11-21K12.2,upstream_gene_variant,,ENST00000623017,;SLC15A4,downstream_gene_variant,,ENST00000535272,;SLC15A4,missense_variant,p.Arg223Pro,ENST00000376744,;SLC15A4,missense_variant,p.Arg137Pro,ENST00000376740,;SLC15A4,non_coding_transcript_exon_variant,,ENST00000366292,;SLC15A4,upstream_gene_variant,,ENST00000544112,;	G	ENST00000266771	Transcript	missense_variant	870/2779	830/1734	277/577	R/P	cGc/cCc	rs199661368,COSM936911	1		-1	SLC15A4	HGNC	HGNC:23090	protein_coding	YES	CCDS9264.1	ENSP00000266771	Q8N697		UPI000006F120	NM_145648.3	tolerated(0.06)		2/8		hmmpanther:PTHR11654,hmmpanther:PTHR11654:SF80,Pfam_domain:PF00854											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs199661368	.												G	3	3	65	128814787	128814787	C	G	1	0	0	0	0	1	0	0	0	14666	768	27	4		4	SLC15A4	12	128814787	Missense_Mutation	SNP	C	C3N-00738_TP	4487348	128814787	4460522	122	21454											
ANHX	0	.	GRCh38	chr12	133231620	133231620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagctgcactaactcctGgctgcctcccggcacctggc	6	7	10	18	1	0	1	0	0	0	1	2	1	2	1	5	3	4	4	5	3	1	1	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.274C>A	p.Gln92Lys	p.Q92K	ENST00000545940	2/8	215	199	16	234	233	1	strelka-varscan-mutect	ANHX,missense_variant,p.Gln92Lys,ENST00000545940,;ANHX,missense_variant,p.Gln92Lys,ENST00000419717,NM_001191054.1;	T	ENST00000545940	Transcript	missense_variant	2013/3452	274/1140	92/379	Q/K	Cag/Aag		1		-1	ANHX	HGNC	HGNC:40024	protein_coding	YES	CCDS53855.1	ENSP00000439513	E9PGG2		UPI0001AE6BD3		tolerated(0.88)		2/8		hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF34,Pfam_domain:PF16878																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	65	133231620	133231620	G	T	1	0	0	0	0	1	0	0	0	719	1357	47	2		2	ANHX	12	133231620	Missense_Mutation	SNP	G	C3N-00738_TP	4416833	133231620	43689	123	21455											
STOML3	0	.	GRCh38	chr13	38972532	38972532	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtggaggaatgttgcAagtaactgttcggaggtcaa	10	12	13	6	1	2	0	1	0	1	0	3	3	2	3	0	4	2	4	0	4	4	4	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.292T>G	p.Cys98Gly	p.C98G	ENST00000379631	4/7	182	161	21	217	216	1	strelka-varscan-mutect	STOML3,missense_variant,p.Cys98Gly,ENST00000379631,NM_145286.2;STOML3,missense_variant,p.Cys89Gly,ENST00000423210,NM_001144033.1;	C	ENST00000379631	Transcript	missense_variant	637/2121	292/876	98/291	C/G	Tgc/Ggc		1		-1	STOML3	HGNC	HGNC:19420	protein_coding	YES	CCDS9367.1	ENSP00000368952	Q8TAV4		UPI000003615B	NM_145286.2	deleterious(0.01)		4/7		Superfamily_domains:0050593,Pfam_domain:PF01145,hmmpanther:PTHR10264,hmmpanther:PTHR10264:SF49,SMART_domains:SM00244																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	65	38972532	38972532	A	C	1	0	0	0	0	1	0	0	0	15694	130	5	5		5	STOML3	13	38972532	Missense_Mutation	SNP	A	C3N-00738_TP		38972532	75391796	124	21456											
GPALPP1	0	.	GRCh38	chr13	45006255	45006255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatgatgatgggttttttgGaccagcccttcctcctggat	6	15	11	9	0	0	3	0	3	0	0	2	5	2	5	4	3	1	1	4	3	0	4	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.275G>T	p.Gly92Val	p.G92V	ENST00000379151	3/8	243	225	18	233	233	0	strelka-varscan	GPALPP1,missense_variant,p.Gly90Val,ENST00000361121,;GPALPP1,missense_variant,p.Gly92Val,ENST00000379151,NM_018559.2;GPALPP1,5_prime_UTR_variant,,ENST00000357537,;RP11-321C24.1,intron_variant,,ENST00000437748,;RN7SL49P,downstream_gene_variant,,ENST00000581392,;GPALPP1,downstream_gene_variant,,ENST00000479068,;GPALPP1,missense_variant,p.Gly92Val,ENST00000497558,;	T	ENST00000379151	Transcript	missense_variant	378/1393	275/1023	92/340	G/V	gGa/gTa		1		1	GPALPP1	HGNC	HGNC:20298	protein_coding	YES	CCDS9394.1	ENSP00000368447	Q8IXQ4	A0A024RDS7	UPI000007435F	NM_018559.2	deleterious(0.02)		3/8		hmmpanther:PTHR15606																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	45006255	45006255	G	T	1	0	0	0	0	1	0	0	0	6483	1174	41	2		2	GPALPP1	13	45006255	Missense_Mutation	SNP	G	C3N-00738_TP	6033723	45006255	69358073	125	21457											
PCDH17	0	.	GRCh38	chr13	57633990	57633990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctctacgtgcttcaggtgCacgagaacaacatcccggga	10	7	12	12	3	2	1	1	0	1	1	3	3	3	2	1	3	5	3	1	3	3	2	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.1444C>A	p.His482Asn	p.H482N	ENST00000377918	1/4	360	328	32	490	490	0	strelka-varscan-mutect	PCDH17,missense_variant,p.His482Asn,ENST00000377918,NM_001040429.2;PCDH17,upstream_gene_variant,,ENST00000612954,;PCDH17,upstream_gene_variant,,ENST00000615375,;RP11-95F22.1,upstream_gene_variant,,ENST00000610846,;PCDH17,missense_variant,p.His482Asn,ENST00000484979,;	A	ENST00000377918	Transcript	missense_variant	2179/8232	1444/3480	482/1159	H/N	Cac/Aac		1		1	PCDH17	HGNC	HGNC:14267	protein_coding	YES	CCDS31986.1	ENSP00000367151	O14917		UPI00001FCE5B	NM_001040429.2	tolerated(0.19)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	65	57633990	57633990	C	A	1	0	0	0	0	1	0	0	0	11599	710	25	2		2	PCDH17	13	57633990	Missense_Mutation	SNP	C	C3N-00738_TP	12627735	57633990	56730338	126	21458											
SLITRK1	0	.	GRCh38	chr13	83879642	83879642	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacaccagcagcagtccCgggaccaacaccgagatgga	15	2	10	14	2	0	1	0	0	0	1	1	4	1	3	4	2	4	2	4	2	2	0	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.1866G>T	p.=	p.P622P	ENST00000377084	1/1	199	178	21	324	323	1	strelka-varscan-mutect	SLITRK1,synonymous_variant,p.=,ENST00000377084,NM_052910.2,NM_001281503.1;	A	ENST00000377084	Transcript	synonymous_variant	2752/5189	1866/2091	622/696	P	ccG/ccT		1		-1	SLITRK1	HGNC	HGNC:20297	protein_coding	YES	CCDS9464.1	ENSP00000366288	Q96PX8		UPI0000035971	NM_052910.2,NM_001281503.1			1/1		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF33,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs891710476	.												A	2	1	65	83879642	83879642	C	A	1	0	0	0	0	0	0	0	1	15033	639	23	1		1	SLITRK1	13	83879642	Silent	SNP	C	C3N-00738_TP	26245652	83879642	30484686	127	21459											
DOCK9	0	.	GRCh38	chr13	98880595	98880595	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcagaaggcttgagaatCgtggtcatggatttggtcag	9	11	15	6	2	2	2	2	1	0	2	4	4	2	3	0	5	0	2	0	5	2	2	rs749743956		C3N-00738_TP	C3N-00738_NB	C	C																c.2823G>T	p.=	p.T941T	ENST00000376460	26/57	332	312	20	392	392	0	strelka-varscan-mutect	DOCK9,synonymous_variant,p.=,ENST00000448493,;DOCK9,synonymous_variant,p.=,ENST00000442173,;DOCK9,synonymous_variant,p.=,ENST00000376460,NM_001130048.1,NM_015296.2;DOCK9,synonymous_variant,p.=,ENST00000427887,NM_001130049.1;DOCK9,synonymous_variant,p.=,ENST00000627024,NM_001130050.1;DOCK9,synonymous_variant,p.=,ENST00000339416,;DOCK9,3_prime_UTR_variant,,ENST00000630992,;	A	ENST00000376460	Transcript	synonymous_variant	2904/7549	2823/6207	941/2068	T	acG/acT	rs749743956,COSM4419781,COSM4419782,COSM4419783,COSM4419784,COSM4419785	1		-1	DOCK9	HGNC	HGNC:14132	protein_coding	YES	CCDS45062.1	ENSP00000365643	Q9BZ29		UPI000046FD7F	NM_001130048.1,NM_015296.2			26/57		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF77											0,1,1,1,1,1						LOW	1	SNV	5		0,1,1,1,1,1	1										PASS		rs749743956	.												A	2	1	65	98880595	98880595	C	A	1	0	0	0	0	0	0	0	1	4509	871	31	1		1	DOCK9	13	98880595	Silent	SNP	C	C3N-00738_TP	15000953	98880595	15483733	128	21460											
COL4A1	0	.	GRCh38	chr13	110175297	110175297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcacctttgtctccaGgtaagccaggtgaaccttgt	7	14	9	11	0	1	1	0	1	1	0	2	1	1	1	4	2	3	2	4	2	2	5	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.3119C>T	p.Pro1040Leu	p.P1040L	ENST00000375820	37/52	471	435	36	573	572	1	strelka-varscan-mutect	COL4A1,missense_variant,p.Pro1040Leu,ENST00000375820,NM_001845.5;	A	ENST00000375820	Transcript	missense_variant	3241/6532	3119/5010	1040/1669	P/L	cCt/cTt		1		-1	COL4A1	HGNC	HGNC:2202	protein_coding	YES	CCDS9511.1	ENSP00000364979	P02462		UPI000004981D	NM_001845.5	deleterious(0.03)		37/52		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF543																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	65	110175297	110175297	G	A	1	0	0	0	0	1	0	0	0	3478	1000	35	3		3	COL4A1	13	110175297	Missense_Mutation	SNP	G	C3N-00738_TP	11294702	110175297	4189031	129	21461											
PCID2	0	.	GRCh38	chr13	113200479	113200479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagacaccaactctgcaCaagatgctccatctctgctg	13	9	6	13	0	2	2	0	0	2	2	4	2	3	2	2	0	4	3	2	0	4	1	rs776910105		C3N-00738_TP	C3N-00738_NB	C	C																c.74G>A	p.Cys25Tyr	p.C25Y	ENST00000622406	2/15	315	288	27	355	355	0	strelka-varscan-mutect	PCID2,missense_variant,p.Cys23Tyr,ENST00000375457,NM_001320660.1,NM_001258213.1;PCID2,missense_variant,p.Cys25Tyr,ENST00000622406,NM_001258212.1;PCID2,missense_variant,p.Cys25Tyr,ENST00000337344,NM_001127202.2;PCID2,missense_variant,p.Cys25Tyr,ENST00000246505,;PCID2,missense_variant,p.Cys25Tyr,ENST00000375479,NM_001127203.2,NM_018386.3;PCID2,missense_variant,p.Cys23Tyr,ENST00000375459,;PCID2,missense_variant,p.Cys25Tyr,ENST00000375477,;PCID2,non_coding_transcript_exon_variant,,ENST00000484641,;PCID2,non_coding_transcript_exon_variant,,ENST00000475433,;PCID2,non_coding_transcript_exon_variant,,ENST00000480971,;PCID2,non_coding_transcript_exon_variant,,ENST00000491548,;PCID2,non_coding_transcript_exon_variant,,ENST00000462853,;	T	ENST00000622406	Transcript	missense_variant	155/1937	74/1362	25/453	C/Y	tGt/tAt	rs776910105	1		-1	PCID2	HGNC	HGNC:25653	protein_coding	YES	CCDS58302.1	ENSP00000479494	Q5JVF3	A0A024RE04	UPI00001AEF24	NM_001258212.1	deleterious(0.04)		2/15		hmmpanther:PTHR12732,hmmpanther:PTHR12732:SF0																	MODERATE	1	SNV	5			1										PASS		rs776910105	.												T	3	4	65	113200479	113200479	C	T	1	0	0	0	0	1	0	0	0	11667	478	17	3		3	PCID2	13	113200479	Missense_Mutation	SNP	C	C3N-00738_TP	3025182	113200479	1163849	130	21462											
UPF3A	0	.	GRCh38	chr13	114301883	114301883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagtgaggatgagcagaGatgggggaaaggacctggcc	13	4	19	5	0	0	3	0	2	0	1	0	8	0	7	2	6	1	1	2	6	2	0			C3N-00738_TP	C3N-00738_NB	G	G																c.1160G>T	p.Arg387Ile	p.R387I	ENST00000375299	9/10	140	128	12	175	175	0	varscan-mutect	UPF3A,missense_variant,p.Arg387Ile,ENST00000375299,NM_023011.3;UPF3A,missense_variant,p.Arg354Ile,ENST00000351487,NM_080687.2;UPF3A,non_coding_transcript_exon_variant,,ENST00000475218,;UPF3A,intron_variant,,ENST00000480362,;UPF3A,downstream_gene_variant,,ENST00000493727,;UPF3A,downstream_gene_variant,,ENST00000474056,;CLCP2,upstream_gene_variant,,ENST00000392050,;	T	ENST00000375299	Transcript	missense_variant	1216/2387	1160/1431	387/476	R/I	aGa/aTa	COSM4801234	1		1	UPF3A	HGNC	HGNC:20332	protein_coding	YES	CCDS9543.1	ENSP00000364448	Q9H1J1		UPI0000072FCB	NM_023011.3	deleterious(0)		9/10		hmmpanther:PTHR13112,hmmpanther:PTHR13112:SF2											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	65	114301883	114301883	G	T	1	0	0	0	0	1	0	0	0	17531	942	33	2		2	UPF3A	13	114301883	Missense_Mutation	SNP	G	C3N-00738_TP	1101404	114301883	62445	131	21463											
ARHGEF40	0	.	GRCh38	chr14	21087103	21087103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtgccctgctcactggaaGaggtgagggccagggtgctg	7	7	18	9	0	1	2	1	1	0	1	1	4	1	3	2	4	3	2	2	4	1	0	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.4241G>A	p.Arg1414Lys	p.R1414K	ENST00000298694	20/24	141	127	14	145	145	0	strelka-varscan-mutect	ARHGEF40,missense_variant,p.Arg1414Lys,ENST00000298694,NM_001278530.1,NM_001278529.1,NM_018071.4;ZNF219,downstream_gene_variant,,ENST00000360947,NM_016423.2;ZNF219,downstream_gene_variant,,ENST00000451119,NM_001102454.1;ZNF219,downstream_gene_variant,,ENST00000421093,NM_001101672.1;ARHGEF40,splice_region_variant,,ENST00000553709,;ARHGEF40,splice_region_variant,,ENST00000556399,;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000554514,;ARHGEF40,downstream_gene_variant,,ENST00000555232,;ARHGEF40,upstream_gene_variant,,ENST00000557498,;	A	ENST00000298694	Transcript	missense_variant,splice_region_variant	4368/5919	4241/4560	1414/1519	R/K	aGa/aAa		1		1	ARHGEF40	HGNC	HGNC:25516	protein_coding	YES	CCDS32041.1	ENSP00000298694	Q8TER5		UPI00001FCFB7	NM_001278530.1,NM_001278529.1,NM_018071.4	deleterious(0.01)		20/24		Low_complexity_(Seg):seg,hmmpanther:PTHR22826:SF143,hmmpanther:PTHR22826																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	65	21087103	21087103	G	A	1	0	0	0	0	1	0	0	0	1044	956	33	3		3	ARHGEF40	14	21087103	Missense_Mutation	SNP	G	C3N-00738_TP		21087103	85956615	132	21464											
PELI2	0	.	GRCh38	chr14	56296635	56296635	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacgtcctgcaggacggctcCctcattgacctgtgtggggc	6	9	13	13	2	1	1	1	1	0	0	3	2	3	2	3	4	2	2	3	4	1	1	rs72720080		C3N-00738_TP	C3N-00738_NB	C	C																c.732C>G	p.=	p.S244S	ENST00000267460	6/6	114	103	11	103	103	0	strelka-varscan-mutect	PELI2,synonymous_variant,p.=,ENST00000267460,NM_021255.2;	G	ENST00000267460	Transcript	synonymous_variant	1018/5909	732/1263	244/420	S	tcC/tcG	rs72720080	1		1	PELI2	HGNC	HGNC:8828	protein_coding	YES	CCDS9726.1	ENSP00000267460	Q9HAT8		UPI0000062262	NM_021255.2			6/6		hmmpanther:PTHR12098,Pfam_domain:PF04710,PIRSF_domain:PIRSF038886																	LOW	1	SNV	1			1										PASS		rs72720080	.												G	2	3	65	56296635	56296635	C	G	1	0	0	0	0	0	0	0	1	11810	610	22	4		4	PELI2	14	56296635	Silent	SNP	C	C3N-00738_TP	35209532	56296635	50747083	133	21465											
PPM1A	0	.	GRCh38	chr14	60245885	60245885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgggtagcagaagctaCaatttgtactaagctaatga	17	10	9	5	0	0	2	0	1	0	1	0	2	0	2	0	1	5	5	0	1	9	6	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.38C>T	p.Thr13Ile	p.T13I	ENST00000325642	1/6	124	113	11	117	117	0	strelka-varscan-mutect	PPM1A,missense_variant,p.Thr13Ile,ENST00000325642,NM_177952.2;PPM1A,upstream_gene_variant,,ENST00000395076,NM_021003.4;PPM1A,upstream_gene_variant,,ENST00000325658,NM_177951.2;PPM1A,upstream_gene_variant,,ENST00000525399,;PPM1A,upstream_gene_variant,,ENST00000528241,;CTD-2184C24.2,intron_variant,,ENST00000529171,;CTD-2184C24.2,upstream_gene_variant,,ENST00000532515,;CTD-2184C24.2,upstream_gene_variant,,ENST00000553269,;CTD-2184C24.2,upstream_gene_variant,,ENST00000553775,;PPM1A,missense_variant,p.Thr13Ile,ENST00000532036,;PPM1A,missense_variant,p.Thr13Ile,ENST00000531143,;	T	ENST00000325642	Transcript	missense_variant	134/1713	38/1368	13/455	T/I	aCa/aTa		1		1	PPM1A	HGNC	HGNC:9275	protein_coding	YES	CCDS45120.1	ENSP00000327255	P35813		UPI0000E01530	NM_177952.2			1/6																			MODERATE		SNV	2			1										PASS		.	.												T	3	4	65	60245885	60245885	C	T	1	0	0	0	0	1	0	0	0	12445	478	17	3		3	PPM1A	14	60245885	Missense_Mutation	SNP	C	C3N-00738_TP	3949250	60245885	46797833	134	21466											
PROX2	0	.	GRCh38	chr14	74858415	74858415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtgactttacctgaacatCaggaaaataaaccttcagga	16	9	8	8	0	2	2	2	2	0	0	2	5	2	4	2	2	3	0	2	2	6	4	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.1405G>A	p.Asp469Asn	p.D469N	ENST00000556489	2/4	76	70	6	106	106	0	strelka-varscan-mutect	PROX2,missense_variant,p.Asp469Asn,ENST00000556489,NM_001243007.1;YLPM1,3_prime_UTR_variant,,ENST00000554107,;PROX2,intron_variant,,ENST00000556084,NM_001080408.2;YLPM1,downstream_gene_variant,,ENST00000553381,;	T	ENST00000556489	Transcript	missense_variant	1405/3878	1405/1779	469/592	D/N	Gat/Aat		1		-1	PROX2	HGNC	HGNC:26715	protein_coding	YES	CCDS73663.1	ENSP00000451223		G3V3G0	UPI0002190191	NM_001243007.1	deleterious(0)		2/4		hmmpanther:PTHR12198,Pfam_domain:PF05044,Gene3D:1mijA00,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		rs1199930390	.												T	3	4	65	74858415	74858415	C	T	1	0	0	0	0	1	0	0	0	12697	826	29	3		3	PROX2	14	74858415	Missense_Mutation	SNP	C	C3N-00738_TP	14612530	74858415	32185303	135	21467											
FAM181A	0	.	GRCh38	chr14	93928839	93928839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgagactaccctggtgtCcatgtctccaagggccctgg	7	9	11	14	0	1	1	0	1	1	1	3	2	2	1	5	3	1	0	5	3	2	1	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.740C>A	p.Ser247Tyr	p.S247Y	ENST00000267594	3/3	436	403	33	417	417	0	strelka-varscan-mutect	FAM181A,missense_variant,p.Ser247Tyr,ENST00000267594,NM_138344.4;FAM181A,missense_variant,p.Ser185Tyr,ENST00000557000,NM_001207072.1;FAM181A,missense_variant,p.Ser185Tyr,ENST00000556222,NM_001207074.1,NM_001207073.1;FAM181A,missense_variant,p.Ser185Tyr,ENST00000557719,NM_001207071.1;FAM181A,missense_variant,p.Ser185Tyr,ENST00000554404,;FAM181A-AS1,upstream_gene_variant,,ENST00000554742,;FAM181A-AS1,upstream_gene_variant,,ENST00000554538,;FAM181A-AS1,upstream_gene_variant,,ENST00000556290,;FAM181A-AS1,upstream_gene_variant,,ENST00000555732,;	A	ENST00000267594	Transcript	missense_variant	1047/1816	740/1065	247/354	S/Y	tCc/tAc		1		1	FAM181A	HGNC	HGNC:20491	protein_coding	YES	CCDS9914.1	ENSP00000267594	Q8N9Y4		UPI00004567C0	NM_138344.4	deleterious(0.04)		3/3		Pfam_domain:PF15238,hmmpanther:PTHR33766,hmmpanther:PTHR33766:SF1																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	65	93928839	93928839	C	A	1	0	0	0	0	1	0	0	0	5354	855	30	2		2	FAM181A	14	93928839	Missense_Mutation	SNP	C	C3N-00738_TP	19070424	93928839	13114879	136	21468											
SERPINA6	0	.	GRCh38	chr14	94309848	94309848	+	Frame_Shift_Del	DEL	C	C	-																															gaagacagtcccattgcccaCgtagttcatctgcaccagct																								rs778913169		C3N-00738_TP	C3N-00738_NB	C	C																c.772delG	p.Val258TrpfsTer16	p.V258Wfs*16	ENST00000341584	3/5	484	448	36	500	500	0	varindel-pindel	SERPINA6,frameshift_variant,p.Val258TrpfsTer16,ENST00000341584,NM_001756.3;SERPINA6,downstream_gene_variant,,ENST00000557225,;SERPINA6,3_prime_UTR_variant,,ENST00000555056,;	-	ENST00000341584	Transcript	frameshift_variant	919/1534	772/1218	258/405	V/X	Gtg/tg	rs778913169,COSM4053225,COSM4053226	1		-1	SERPINA6	HGNC	HGNC:1540	protein_coding	YES	CCDS9924.1	ENSP00000342850	P08185		UPI0000127182	NM_001756.3			3/5		hmmpanther:PTHR11461:SF34,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574,Prints_domain:PR00780											0,1,1						HIGH	1	deletion	1		0,1,1	1										PASS		.	.												-	7	5	65	94309848	94309848	C	-	1	0	1	0	1	0	0	0	0	14369	536	19	0		0	SERPINA6	14	94309848	Frame_Shift_Del	DEL	C	C3N-00738_TP	381009	94309848	12733870	137	21469											
WDR72	0	.	GRCh38	chr15	53702346	53702346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctttaagaactttatgagGgggagaatctgaaaaacaat	16	10	10	5	0	1	4	0	2	1	2	1	5	1	4	1	2	2	0	1	2	7	4	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.1357C>A	p.Pro453Thr	p.P453T	ENST00000396328	12/20	197	180	17	269	269	0	strelka-varscan-mutect	WDR72,missense_variant,p.Pro453Thr,ENST00000396328,;WDR72,missense_variant,p.Pro450Thr,ENST00000557913,;WDR72,missense_variant,p.Pro453Thr,ENST00000360509,NM_182758.3;WDR72,missense_variant,p.Pro463Thr,ENST00000559418,;WDR72,missense_variant,p.Pro453Thr,ENST00000560036,;	T	ENST00000396328	Transcript	missense_variant	1597/7507	1357/3309	453/1102	P/T	Cct/Act		1		-1	WDR72	HGNC	HGNC:26790	protein_coding	YES	CCDS10151.1	ENSP00000379619	Q3MJ13		UPI00001D777D		deleterious(0.01)		12/20		Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF408,SMART_domains:SM00320																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	53702346	53702346	G	T	1	0	0	0	0	1	0	0	0	17878	1232	43	2		2	WDR72	15	53702346	Missense_Mutation	SNP	G	C3N-00738_TP		53702346	48288843	138	21470											
PTPN9	0	.	GRCh38	chr15	75523244	75523244	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctgttgggtcccgaacaTtctaaagcaaataaaacaag	15	9	7	10	1	1	0	0	0	1	0	3	1	3	0	2	1	3	2	2	1	7	4	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.299A>G	p.Asn100Ser	p.N100S	ENST00000618819	4/13	169	144	25	172	172	0	strelka-varscan-mutect	PTPN9,missense_variant,p.Asn100Ser,ENST00000618819,NM_002833.3;PTPN9,missense_variant,p.Asn90Ser,ENST00000306726,;PTPN9,missense_variant,p.Asn23Ser,ENST00000561731,;CTD-2323K18.1,downstream_gene_variant,,ENST00000568707,;CTD-2323K18.1,downstream_gene_variant,,ENST00000565138,;CTD-2323K18.1,downstream_gene_variant,,ENST00000567875,;CTD-2323K18.1,downstream_gene_variant,,ENST00000566032,;	C	ENST00000618819	Transcript	missense_variant,splice_region_variant	812/7813	299/1782	100/593	N/S	aAt/aGt		1		-1	PTPN9	HGNC	HGNC:9661	protein_coding	YES	CCDS10280.1	ENSP00000482732	P43378		UPI0000000CAC	NM_002833.3	tolerated(0.61)		4/13		PROSITE_profiles:PS50191,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF326,Gene3D:3.40.525.10,Pfam_domain:PF00650,SMART_domains:SM00516,Superfamily_domains:SSF52087																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	65	75523244	75523244	T	C	1	0	0	0	0	1	0	0	0	12948	1507	52	5		5	PTPN9	15	75523244	Missense_Mutation	SNP	T	C3N-00738_TP	21820898	75523244	26467945	139	21471											
ADAMTS17	0	.	GRCh38	chr15	100133241	100133241	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccacactcggtgccatcCaggggagggtccagcttggt	6	7	14	14	1	0	0	0	0	0	0	3	1	2	1	5	5	2	1	5	5	0	1	rs762724843		C3N-00738_TP	C3N-00738_NB	C	C																c.1548G>C	p.=	p.L516L	ENST00000268070	11/22	218	205	13	256	256	0	strelka-mutect	ADAMTS17,synonymous_variant,p.=,ENST00000268070,NM_139057.2;RP11-90E5.1,downstream_gene_variant,,ENST00000560128,;ADAMTS17,non_coding_transcript_exon_variant,,ENST00000378898,;	G	ENST00000268070	Transcript	synonymous_variant	1654/6207	1548/3288	516/1095	L	ctG/ctC	rs762724843	1		-1	ADAMTS17	HGNC	HGNC:17109	protein_coding	YES	CCDS10383.1	ENSP00000268070	Q8TE56		UPI00001AE929	NM_139057.2			11/22		hmmpanther:PTHR13723:SF151,hmmpanther:PTHR13723,SMART_domains:SM00608																	LOW	1	SNV	1			1										PASS		rs762724843	.												G	2	3	65	100133241	100133241	C	G	1	0	0	0	0	0	0	0	1	306	581	21	4		4	ADAMTS17	15	100133241	Silent	SNP	C	C3N-00738_TP	24609997	100133241	1857948	140	21472											
CHSY1	0	.	GRCh38	chr15	101178928	101178928	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttactgttatggagatctCtaatgtacccctttttgttc	7	20	6	8	0	1	1	0	0	1	1	3	2	1	1	2	1	2	3	2	1	4	8			C3N-00738_TP	C3N-00738_NB	C	C																c.869G>C	p.Arg290Thr	p.R290T	ENST00000254190	3/3	221	199	22	211	211	0	strelka-varscan-mutect	CHSY1,missense_variant,p.Arg290Thr,ENST00000254190,NM_014918.4;CHSY1,non_coding_transcript_exon_variant,,ENST00000543813,;CHSY1,non_coding_transcript_exon_variant,,ENST00000561414,;CHSY1,non_coding_transcript_exon_variant,,ENST00000560766,;	G	ENST00000254190	Transcript	missense_variant	1345/4550	869/2409	290/802	R/T	aGa/aCa	COSM459079	1		-1	CHSY1	HGNC	HGNC:17198	protein_coding	YES	CCDS10390.1	ENSP00000254190	Q86X52		UPI000000DB6C	NM_014918.4	tolerated(0.25)		3/3		hmmpanther:PTHR12369:SF16,hmmpanther:PTHR12369,Pfam_domain:PF05679,Superfamily_domains:SSF53448											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	65	101178928	101178928	C	G	1	0	0	0	0	1	0	0	0	3172	913	32	4		4	CHSY1	15	101178928	Missense_Mutation	SNP	C	C3N-00738_TP	1045687	101178928	812261	141	21473											
SRRM2	0	.	GRCh38	chr16	2766275	2766275	+	Frame_Shift_Del	DEL	C	C	-																															aagatcccggtcaagagcatCcccagtgagcagaaggcgat																										C3N-00738_TP	C3N-00738_NB	C	C																c.5750delC	p.Pro1917GlnfsTer2	p.P1917Qfs*2	ENST00000301740	11/15	179	164	15	238	237	1	varindel-pindel	SRRM2,frameshift_variant,p.Pro1917GlnfsTer2,ENST00000301740,NM_016333.3;SRRM2,intron_variant,,ENST00000630499,;SRRM2,downstream_gene_variant,,ENST00000576924,;SRRM2,downstream_gene_variant,,ENST00000571378,;SRRM2,downstream_gene_variant,,ENST00000575009,;SRRM2,upstream_gene_variant,,ENST00000570539,;SRRM2,upstream_gene_variant,,ENST00000574593,;SRRM2,upstream_gene_variant,,ENST00000572721,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,upstream_gene_variant,,ENST00000574866,;SRRM2,downstream_gene_variant,,ENST00000576674,;SRRM2,upstream_gene_variant,,ENST00000574331,;SRRM2,upstream_gene_variant,,ENST00000576878,;SRRM2,downstream_gene_variant,,ENST00000572952,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,upstream_gene_variant,,ENST00000573311,;SRRM2,upstream_gene_variant,,ENST00000570705,;SRRM2,upstream_gene_variant,,ENST00000571041,;SRRM2,upstream_gene_variant,,ENST00000573692,;	-	ENST00000301740	Transcript	frameshift_variant	6296/9353	5747/8259	1916/2752	S/X	tCc/tc	COSM4789454	1		1	SRRM2	HGNC	HGNC:16639	protein_coding	YES	CCDS32373.1	ENSP00000301740	Q9UQ35	A0A140VK53	UPI000049DDFC	NM_016333.3			11/15		Low_complexity_(Seg):seg											1						HIGH	1	deletion	1	3	1	1										PASS		.	.												-	7	5	65	2766275	2766275	C	-	1	0	1	0	1	0	0	0	0	15530	855	30	0		0	SRRM2	16	2766275	Frame_Shift_Del	DEL	C	C3N-00738_TP		2766275	87572070	142	21474											
CREBBP	0	.	GRCh38	chr16	3770778	3770778	+	Frame_Shift_Del	DEL	G	G	-																															tctgcccggaagacgacacaGgagttgatggctgagtggga																								novel		C3N-00738_TP	C3N-00738_NB	G	G																c.2672delC	p.Pro891LeufsTer36	p.P891Lfs*36	ENST00000262367	14/31	302	273	29	419	419	0	sindel-varindel-pindel	CREBBP,frameshift_variant,p.Pro891LeufsTer36,ENST00000262367,NM_004380.2;CREBBP,frameshift_variant,p.Pro853LeufsTer36,ENST00000382070,NM_001079846.1;CREBBP,frameshift_variant,p.Pro426LeufsTer36,ENST00000570939,;CREBBP,downstream_gene_variant,,ENST00000572134,;CREBBP,downstream_gene_variant,,ENST00000571826,;CREBBP,upstream_gene_variant,,ENST00000573672,;CREBBP,downstream_gene_variant,,ENST00000575237,;	-	ENST00000262367	Transcript	frameshift_variant	3482/10803	2672/7329	891/2442	P/X	cCt/ct		1		-1	CREBBP	HGNC	HGNC:2348	protein_coding	YES	CCDS10509.1	ENSP00000262367	Q92793		UPI0000000620	NM_004380.2			14/31		Low_complexity_(Seg):seg,hmmpanther:PTHR13808:SF5,hmmpanther:PTHR13808																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	65	3770778	3770778	G	-	1	0	1	0	1	0	0	0	0	3661	1000	35	0		0	CREBBP	16	3770778	Frame_Shift_Del	DEL	G	C3N-00738_TP	1004503	3770778	86567567	143	21475											
METTL22	0	.	GRCh38	chr16	8629073	8629073	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagacgacgtcctgggagaGgaagcacaaggcagcccgca	13	2	15	11	3	0	2	0	0	0	2	1	6	1	3	2	3	2	3	2	3	3	0			C3N-00738_TP	C3N-00738_NB	G	G																c.477G>A	p.=	p.E159E	ENST00000381920	3/11	136	124	12	177	177	0	strelka-varscan-mutect	METTL22,synonymous_variant,p.=,ENST00000381920,NM_024109.2;METTL22,synonymous_variant,p.=,ENST00000561758,;METTL22,downstream_gene_variant,,ENST00000563958,;METTL22,downstream_gene_variant,,ENST00000564554,;METTL22,upstream_gene_variant,,ENST00000568967,;METTL22,downstream_gene_variant,,ENST00000563037,;METTL22,synonymous_variant,p.=,ENST00000163678,;METTL22,3_prime_UTR_variant,,ENST00000567295,;	A	ENST00000381920	Transcript	synonymous_variant	735/4984	477/1215	159/404	E	gaG/gaA	COSM3999970	1		1	METTL22	HGNC	HGNC:28368	protein_coding	YES	CCDS10533.2	ENSP00000371345	Q9BUU2		UPI00001FED9D	NM_024109.2			3/11		hmmpanther:PTHR23108:SF0,hmmpanther:PTHR23108											1						LOW	1	SNV	5		1	1										PASS		rs1386322649	.												A	2	1	65	8629073	8629073	G	A	1	0	0	0	0	0	0	0	1	9448	991	35	3		3	METTL22	16	8629073	Silent	SNP	G	C3N-00738_TP	4858295	8629073	81709272	144	21476											
QPRT	0	.	GRCh38	chr16	29694772	29694772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggtcagcggggcaggccCctcgcaggcggcgctgtggg	3	6	19	13	4	1	0	1	0	0	0	2	0	1	0	2	7	1	3	2	7	0	1			C3N-00738_TP	C3N-00738_NB	C	C																c.122C>T	p.Pro41Leu	p.P41L	ENST00000395384	2/4	94	84	10	93	93	0	strelka-varscan-mutect	QPRT,missense_variant,p.Pro41Leu,ENST00000395384,NM_014298.3;AC009133.22,missense_variant,p.Pro41Leu,ENST00000449759,;QPRT,intron_variant,,ENST00000562473,;QPRT,intron_variant,,ENST00000219771,;QPRT,upstream_gene_variant,,ENST00000564967,;	T	ENST00000395384	Transcript	missense_variant	283/2343	122/894	41/297	P/L	cCc/cTc	COSM3888360	1		1	QPRT	HGNC	HGNC:9755	protein_coding	YES	CCDS10651.1	ENSP00000378782	Q15274		UPI000013C78C	NM_014298.3	tolerated(0.25)		2/4		hmmpanther:PTHR32179,PIRSF_domain:PIRSF006250,TIGRFAM_domain:TIGR00078,Pfam_domain:PF02749,Gene3D:3.90.1170.20,Superfamily_domains:SSF54675											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	65	29694772	29694772	C	T	1	0	0	0	0	1	0	0	0	13031	623	22	3		3	QPRT	16	29694772	Missense_Mutation	SNP	C	C3N-00738_TP	21065699	29694772	60643573	145	21477											
ABCC11	0	.	GRCh38	chr16	48214992	48214992	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggctctggacaagcccGcacttctccaatagtttcct	8	11	8	14	1	3	0	1	0	2	0	5	1	4	1	3	2	1	3	3	2	3	3	rs377586143		C3N-00738_TP	C3N-00738_NB	G	G																c.1137C>A	p.Cys379Ter	p.C379*	ENST00000394747	8/29	178	154	24	227	227	0	strelka-varscan-mutect	ABCC11,stop_gained,p.Cys379Ter,ENST00000394747,NM_033151.3;ABCC11,stop_gained,p.Cys379Ter,ENST00000356608,;ABCC11,stop_gained,p.Cys379Ter,ENST00000394748,NM_032583.3;ABCC11,stop_gained,p.Cys379Ter,ENST00000353782,NM_145186.2;ABCC11,downstream_gene_variant,,ENST00000565487,;ABCC11,non_coding_transcript_exon_variant,,ENST00000567385,;	T	ENST00000394747	Transcript	stop_gained	1487/4862	1137/4149	379/1382	C/*	tgC/tgA	rs377586143,COSM1378038	1		-1	ABCC11	HGNC	HGNC:14639	protein_coding	YES	CCDS10732.1	ENSP00000378230	Q96J66	A0A024R6Q6	UPI0000052711	NM_033151.3			8/29		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF168,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs377586143	.												T	4	4	65	48214992	48214992	G	T	1	0	0	0	0	0	1	0	0	55	1079	38	1		1	ABCC11	16	48214992	Nonsense_Mutation	SNP	G	C3N-00738_TP	18520220	48214992	42123353	146	21478											
CNGB1	0	.	GRCh38	chr16	57901369	57901369	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcttgcacacatagtCgttgggcaggtagacaacag	11	9	10	11	1	1	1	0	0	1	1	2	1	1	1	1	2	2	4	1	2	3	5	rs768408396		C3N-00738_TP	C3N-00738_NB	C	C																c.2959G>T	p.Asp987Tyr	p.D987Y	ENST00000251102	29/33	532	471	61	528	527	1	strelka-varscan-mutect	CNGB1,missense_variant,p.Asp987Tyr,ENST00000251102,NM_001297.4;CNGB1,missense_variant,p.Asp981Tyr,ENST00000564448,NM_001286130.1;CNGB1,missense_variant,p.Asp3Tyr,ENST00000565942,;CNGB1,non_coding_transcript_exon_variant,,ENST00000569643,;	A	ENST00000251102	Transcript	missense_variant	3020/5641	2959/3756	987/1251	D/Y	Gac/Tac	rs768408396	1		-1	CNGB1	HGNC	HGNC:2151	protein_coding	YES	CCDS42169.1	ENSP00000251102	Q14028		UPI000013CCDF	NM_001297.4	deleterious(0)		29/33		PROSITE_profiles:PS50042,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF386,Gene3D:2.60.120.10,Pfam_domain:PF00027,SMART_domains:SM00100,Superfamily_domains:SSF51206																	MODERATE	1	SNV	1			1										PASS		rs768408396	.												A	3	1	65	57901369	57901369	C	A	1	0	0	0	0	1	0	0	0	3380	884	31	1		1	CNGB1	16	57901369	Missense_Mutation	SNP	C	C3N-00738_TP	9686377	57901369	32436976	147	21479											
CES2	0	.	GRCh38	chr16	66943968	66943968	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagttctggaagaaggcGctgccccaaaagatccagga	12	6	11	12	1	1	2	0	0	1	2	3	4	3	4	4	3	1	2	4	3	4	1	rs763130930		C3N-00738_TP	C3N-00738_NB	G	G																c.1815G>C	p.=	p.A605A	ENST00000317091	12/12	73	66	7	58	58	0	strelka-mutect	CES2,synonymous_variant,p.=,ENST00000317091,NM_003869.5;CES2,synonymous_variant,p.=,ENST00000417689,NM_198061.2;CES2,downstream_gene_variant,,ENST00000561697,;CES2,downstream_gene_variant,,ENST00000564420,;RP11-361L15.4,intron_variant,,ENST00000566869,;RP11-361L15.3,downstream_gene_variant,,ENST00000623356,;CES2,3_prime_UTR_variant,,ENST00000568470,;CES2,non_coding_transcript_exon_variant,,ENST00000563988,;CES2,downstream_gene_variant,,ENST00000568347,;CES2,downstream_gene_variant,,ENST00000561843,;CES2,downstream_gene_variant,,ENST00000567128,;	C	ENST00000317091	Transcript	synonymous_variant	2799/3927	1815/1872	605/623	A	gcG/gcC	rs763130930,COSM379107	1		1	CES2	HGNC	HGNC:1864	protein_coding	YES	CCDS10825.1	ENSP00000317842		A0A024R6X1	UPI0000074733	NM_003869.5			12/12		hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF149,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474											0,1						LOW	1	SNV	1		0,1	1										PASS		rs763130930	.												C	2	2	65	66943968	66943968	G	C	1	0	0	0	0	0	0	0	1	3002	1074	38	4		4	CES2	16	66943968	Silent	SNP	G	C3N-00738_TP	9042599	66943968	23394377	148	21480											
WDR59	0	.	GRCh38	chr16	74909823	74909823	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtttcatgcttcccaccAcaaaggactcaaggcaggag	13	7	9	12	0	2	0	2	0	0	0	3	2	3	2	2	3	1	3	2	3	2	2	rs750031900		C3N-00738_TP	C3N-00738_NB	A	A																c.1484T>C	p.Val495Ala	p.V495A	ENST00000262144	15/26	128	119	9	149	147	2	varscan-mutect	WDR59,missense_variant,p.Val495Ala,ENST00000262144,NM_030581.3;WDR59,missense_variant,p.Val495Ala,ENST00000616369,NM_001324171.1;WDR59,missense_variant,p.Val45Ala,ENST00000569229,;WDR59,downstream_gene_variant,,ENST00000536050,;WDR59,splice_region_variant,,ENST00000562371,;WDR59,non_coding_transcript_exon_variant,,ENST00000569549,;WDR59,upstream_gene_variant,,ENST00000566924,;WDR59,upstream_gene_variant,,ENST00000570070,;WDR59,downstream_gene_variant,,ENST00000562539,;	G	ENST00000262144	Transcript	missense_variant,splice_region_variant	1615/5898	1484/2925	495/974	V/A	gTg/gCg	rs750031900	1		-1	WDR59	HGNC	HGNC:25706	protein_coding	YES	CCDS32488.1	ENSP00000262144	Q6PJI9		UPI000019839C	NM_030581.3	tolerated(0.35)		15/26		Gene3D:3.10.110.10,Superfamily_domains:SSF54495																	MODERATE	1	SNV	5			1										PASS		rs750031900	.												G	3	3	65	74909823	74909823	A	G	1	0	0	0	0	1	0	0	0	17867	173	6	5		5	WDR59	16	74909823	Missense_Mutation	SNP	A	C3N-00738_TP	7965855	74909823	15428522	149	21481											
OR1G1	0	.	GRCh38	chr17	3127223	3127223	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaagaggaatgcctccAgcatcacaaataacatgaaa	17	5	7	12	1	1	2	1	1	0	1	2	3	2	3	4	1	3	1	4	1	5	1	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.329T>G	p.Leu110Arg	p.L110R	ENST00000328890	1/1	323	289	34	396	395	1	strelka-varscan-mutect	OR1G1,missense_variant,p.Leu110Arg,ENST00000328890,NM_003555.1;	C	ENST00000328890	Transcript	missense_variant	359/998	329/942	110/313	L/R	cTg/cGg		1		-1	OR1G1	HGNC	HGNC:8204	protein_coding	YES	CCDS11020.1	ENSP00000331545	P47890	A0A126GW57	UPI0000041B68	NM_003555.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF247,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	65	3127223	3127223	A	C	1	0	0	0	0	1	0	0	0	11035	188	7	5		5	OR1G1	17	3127223	Missense_Mutation	SNP	A	C3N-00738_TP		3127223	80130218	150	21482											
ARRB2	0	.	GRCh38	chr17	4720247	4720247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgccaacaaggaggtgctgGgaatcctggtgtcctacagg	9	8	15	9	0	0	0	0	0	0	0	2	2	2	2	3	5	4	1	3	5	4	1	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.1012G>A	p.Gly338Arg	p.G338R	ENST00000412477	12/15	248	227	21	296	296	0	strelka-varscan-mutect	ARRB2,missense_variant,p.Gly317Arg,ENST00000269260,NM_001257330.1,NM_004313.3;ARRB2,missense_variant,p.Gly338Arg,ENST00000412477,NM_001257328.1;ARRB2,missense_variant,p.Gly302Arg,ENST00000346341,NM_001257331.1;ARRB2,missense_variant,p.Gly125Arg,ENST00000572457,;ARRB2,missense_variant,p.Gly125Arg,ENST00000571206,;ARRB2,missense_variant,p.Gly273Glu,ENST00000575877,NM_001257329.1;ARRB2,missense_variant,p.Gly125Arg,ENST00000574954,;ARRB2,missense_variant,p.Gly302Arg,ENST00000381488,NM_199004.1;ARRB2,downstream_gene_variant,,ENST00000571428,;ARRB2,downstream_gene_variant,,ENST00000570718,;ARRB2,downstream_gene_variant,,ENST00000570739,;ARRB2,3_prime_UTR_variant,,ENST00000576235,;ARRB2,downstream_gene_variant,,ENST00000571791,;ARRB2,downstream_gene_variant,,ENST00000574502,;ARRB2,downstream_gene_variant,,ENST00000573886,;ARRB2,downstream_gene_variant,,ENST00000577054,;ARRB2,downstream_gene_variant,,ENST00000575131,;ARRB2,downstream_gene_variant,,ENST00000572782,;ARRB2,downstream_gene_variant,,ENST00000574888,;ARRB2,downstream_gene_variant,,ENST00000572497,;	A	ENST00000412477	Transcript	missense_variant	1041/1779	1012/1293	338/430	G/R	Gga/Aga		1		1	ARRB2	HGNC	HGNC:712	protein_coding	YES	CCDS58504.1	ENSP00000403701	P32121		UPI0001AE6690	NM_001257328.1	deleterious(0)		12/15		Gene3D:1g4mB02,Pfam_domain:PF02752,hmmpanther:PTHR11792,hmmpanther:PTHR11792:SF20,SMART_domains:SM01017,Superfamily_domains:SSF81296																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	65	4720247	4720247	G	A	1	0	0	0	0	1	0	0	0	1124	1233	43	3		3	ARRB2	17	4720247	Missense_Mutation	SNP	G	C3N-00738_TP	1593024	4720247	78537194	151	21483											
MINK1	0	.	GRCh38	chr17	4878317	4878317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttctgtctcctgcccctagGaccctgctgggatctttgag	4	13	10	14	0	3	1	0	1	3	0	4	3	3	3	4	2	2	1	4	2	1	3	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.58G>T	p.Asp20Tyr	p.D20Y	ENST00000355280	2/32	134	122	12	164	164	0	strelka-varscan-mutect	MINK1,missense_variant,p.Asp20Tyr,ENST00000355280,NM_153827.4,NM_015716.4;MINK1,missense_variant,p.Asp20Tyr,ENST00000347992,NM_170663.4;MINK1,missense_variant,p.Asp20Tyr,ENST00000453408,NM_001024937.3;RN7SL784P,upstream_gene_variant,,ENST00000577319,;MINK1,missense_variant,p.Lys58Asn,ENST00000574453,NM_001321236.1;MINK1,missense_variant,p.Asp8Tyr,ENST00000577021,;MINK1,splice_region_variant,,ENST00000572330,;	T	ENST00000355280	Transcript	missense_variant,splice_region_variant	254/4961	58/3999	20/1332	D/Y	Gac/Tac		1		1	MINK1	HGNC	HGNC:17565	protein_coding	YES	CCDS45588.1	ENSP00000347427	Q8N4C8		UPI00001678BB	NM_153827.4,NM_015716.4	deleterious_low_confidence(0)		2/32		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF196,Gene3D:3.30.200.20																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	4878317	4878317	G	T	1	0	0	0	0	1	0	0	0	9551	1188	41	2		2	MINK1	17	4878317	Missense_Mutation	SNP	G	C3N-00738_TP	158070	4878317	78379124	152	21484											
AIPL1	0	.	GRCh38	chr17	6426687	6426687	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcttcagcaggcactGgcagtagttgaggatcagag	9	10	12	10	0	3	2	2	1	1	1	4	3	4	3	1	3	1	5	1	3	1	4	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.712C>T	p.Gln238Ter	p.Q238*	ENST00000381129	5/6	350	325	25	419	418	1	strelka-varscan-mutect	AIPL1,stop_gained,p.Gln238Ter,ENST00000381129,NM_014336.4;AIPL1,stop_gained,p.Gln175Ter,ENST00000250087,NM_001033054.2;AIPL1,stop_gained,p.Gln238Ter,ENST00000575265,;AIPL1,stop_gained,p.Gln226Ter,ENST00000574506,NM_001285399.2,NM_001285402.1;AIPL1,stop_gained,p.Gln230Ter,ENST00000571740,NM_001285403.2;AIPL1,stop_gained,p.Gln216Ter,ENST00000570466,NM_001285400.2;AIPL1,stop_gained,p.Gln178Ter,ENST00000576307,NM_001033055.2;AIPL1,splice_region_variant,,ENST00000576776,NM_001285401.2;AIPL1,intron_variant,,ENST00000570584,;AIPL1,downstream_gene_variant,,ENST00000574913,;AIPL1,3_prime_UTR_variant,,ENST00000381128,;	A	ENST00000381129	Transcript	stop_gained	793/2959	712/1155	238/384	Q/*	Cag/Tag		1		-1	AIPL1	HGNC	HGNC:359	protein_coding	YES	CCDS11075.1	ENSP00000370521	Q9NZN9	F1T0B6	UPI0000125741	NM_014336.4			5/6		Gene3D:1.25.40.10,PROSITE_profiles:PS50293,hmmpanther:PTHR11242,hmmpanther:PTHR11242:SF2,Superfamily_domains:SSF48452																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	65	6426687	6426687	G	A	1	0	0	0	0	0	1	0	0	513	1362	47	3		3	AIPL1	17	6426687	Nonsense_Mutation	SNP	G	C3N-00738_TP	1548370	6426687	76830754	153	21485											
SHMT1	0	.	GRCh38	chr17	18340212	18340212	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgttctcatctgcaatcttCcgtagccgggcatattccag	7	12	8	14	3	3	0	1	0	3	0	6	0	5	0	4	1	2	4	4	1	3	5	rs758391400		C3N-00738_TP	C3N-00738_NB	C	C																c.645G>T	p.=	p.R215R	ENST00000316694	7/12	738	660	78	742	740	2	strelka-varscan-mutect	SHMT1,synonymous_variant,p.=,ENST00000316694,NM_004169.4;SHMT1,synonymous_variant,p.=,ENST00000352886,NM_001281786.1;SHMT1,synonymous_variant,p.=,ENST00000354098,NM_148918.2;SHMT1,downstream_gene_variant,,ENST00000617912,;SHMT1,3_prime_UTR_variant,,ENST00000580002,;SHMT1,non_coding_transcript_exon_variant,,ENST00000395684,;SHMT1,downstream_gene_variant,,ENST00000579558,;	A	ENST00000316694	Transcript	synonymous_variant	780/2464	645/1452	215/483	R	cgG/cgT	rs758391400	1		-1	SHMT1	HGNC	HGNC:10850	protein_coding	YES	CCDS11196.1	ENSP00000318868	P34896		UPI0000001C71	NM_004169.4			7/12		HAMAP:MF_00051,hmmpanther:PTHR11680:SF14,hmmpanther:PTHR11680,Pfam_domain:PF00464,PIRSF_domain:PIRSF000412,Gene3D:3.40.640.10,Superfamily_domains:SSF53383																	LOW	1	SNV	1			1										PASS		rs758391400	.												A	2	1	65	18340212	18340212	C	A	1	0	0	0	0	0	0	0	1	14548	842	30	2		2	SHMT1	17	18340212	Silent	SNP	C	C3N-00738_TP	11913525	18340212	64917229	154	21486											
KRTAP4-8	0	.	GRCh38	chr17	41097830	41097830	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtggcagcaggtgggctgGcagcacacagactggcagca	9	4	18	10	0	0	1	0	0	0	1	0	1	0	1	0	6	3	7	0	6	0	0	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.255C>A	p.Cys85Ter	p.C85*	ENST00000333822	1/1	389	360	29	474	473	1	varscan-mutect	KRTAP4-8,stop_gained,p.Cys85Ter,ENST00000333822,NM_031960.2;KRTAP4-8,splice_region_variant,,ENST00000318329,;KRTAP4-7,intron_variant,,ENST00000612231,;KRTAP4-16,downstream_gene_variant,,ENST00000440582,;	T	ENST00000333822	Transcript	stop_gained	312/1161	255/558	85/185	C/*	tgC/tgA		1		-1	KRTAP4-8	HGNC	HGNC:17230	protein_coding	YES	CCDS45674.1	ENSP00000328444	Q9BYQ9		UPI0000366BFD	NM_031960.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF67,Pfam_domain:PF13885																	HIGH	1	SNV				1										PASS		.	.												T	4	4	65	41097830	41097830	G	T	1	0	0	0	0	0	1	0	0	8451	1195	42	2		2	KRTAP4-8	17	41097830	Nonsense_Mutation	SNP	G	C3N-00738_TP	22757618	41097830	42159611	155	21487											
SOST	0	.	GRCh38	chr17	43755408	43755408	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgcggggccgcggcttccgGcccttctgcggccgagcggc	1	5	18	17	8	1	0	0	0	1	0	2	1	2	0	4	6	2	1	4	6	0	2	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.576C>A	p.=	p.G192G	ENST00000301691	2/2	223	194	29	230	230	0	strelka-varscan-mutect	SOST,synonymous_variant,p.=,ENST00000301691,NM_025237.2;	T	ENST00000301691	Transcript	synonymous_variant	623/2300	576/642	192/213	G	ggC/ggA		1		-1	SOST	HGNC	HGNC:13771	protein_coding	YES	CCDS11468.1	ENSP00000301691	Q9BQB4		UPI0000035BBE	NM_025237.2			2/2		Pfam_domain:PF05463,hmmpanther:PTHR14903,hmmpanther:PTHR14903:SF4																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	65	43755408	43755408	G	T	1	0	0	0	0	0	0	0	1	15260	1190	42	2		2	SOST	17	43755408	Silent	SNP	G	C3N-00738_TP	2657578	43755408	39502033	156	21488											
CD300LG	0	.	GRCh38	chr17	43848861	43848861	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaaacggggccccgatgAgtctttactgatctctctgt	9	11	10	11	3	3	2	0	2	3	0	4	4	3	2	2	2	2	0	2	2	3	2	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.347A>T	p.Glu116Val	p.E116V	ENST00000317310	2/7	124	111	13	195	195	0	strelka-varscan-mutect	CD300LG,missense_variant,p.Glu116Val,ENST00000317310,NM_145273.3;CD300LG,missense_variant,p.Glu116Val,ENST00000588884,;CD300LG,missense_variant,p.Glu116Val,ENST00000539718,NM_001168322.1;CD300LG,missense_variant,p.Glu116Val,ENST00000377203,NM_001168323.1;CD300LG,missense_variant,p.Glu116Val,ENST00000293396,NM_001168324.1;CD300LG,missense_variant,p.Glu116Val,ENST00000586233,;	T	ENST00000317310	Transcript	missense_variant	388/2758	347/999	116/332	E/V	gAg/gTg		1		1	CD300LG	HGNC	HGNC:30455	protein_coding	YES	CCDS11470.1	ENSP00000321005	Q6UXG3		UPI000013E104	NM_145273.3	deleterious(0)		2/7		PROSITE_profiles:PS50835,hmmpanther:PTHR11860:SF22,hmmpanther:PTHR11860,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	43848861	43848861	A	T	1	0	0	0	0	1	0	0	0	2706	304	11	4		4	CD300LG	17	43848861	Missense_Mutation	SNP	A	C3N-00738_TP	93453	43848861	39408580	157	21489											
GPATCH8	0	.	GRCh38	chr17	44398532	44398532	+	Frame_Shift_Del	DEL	G	G	-																															atagggcatcactactccctGggggcccctcttctgtctct																										C3N-00738_TP	C3N-00738_NB	G	G																c.3545delC	p.Pro1182GlnfsTer22	p.P1182Qfs*22	ENST00000591680	8/8	36	31	5	68	68	0	sindel-varindel-pindel	GPATCH8,frameshift_variant,p.Pro1182GlnfsTer22,ENST00000591680,NM_001304939.1,NM_001002909.3;GPATCH8,downstream_gene_variant,,ENST00000585614,;GPATCH8,3_prime_UTR_variant,,ENST00000587228,;GPATCH8,non_coding_transcript_exon_variant,,ENST00000335500,;GPATCH8,non_coding_transcript_exon_variant,,ENST00000635257,;GPATCH8,downstream_gene_variant,,ENST00000590041,;	-	ENST00000591680	Transcript	frameshift_variant	3576/4692	3545/4509	1182/1502	P/X	cCa/ca	COSM5561399	1		-1	GPATCH8	HGNC	HGNC:29066	protein_coding	YES	CCDS32666.1	ENSP00000467556	Q9UKJ3		UPI0000237985	NM_001304939.1,NM_001002909.3			8/8		Low_complexity_(Seg):seg,hmmpanther:PTHR17614:SF11,hmmpanther:PTHR17614											1						HIGH	1	deletion	2		1	1										PASS		.	.												-	7	5	65	44398532	44398532	G	-	1	0	1	0	1	0	0	0	0	6495	1348	47	0		0	GPATCH8	17	44398532	Frame_Shift_Del	DEL	G	C3N-00738_TP	549671	44398532	38858909	158	21490											
TTLL6	0	.	GRCh38	chr17	48786187	48786187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttggaggcttgggtggcggCcttgtctttctgctgttgtt	1	18	15	7	1	2	0	0	0	2	0	2	1	2	1	1	5	1	4	1	5	0	6	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.1738G>A	p.Ala580Thr	p.A580T	ENST00000393382	12/16	200	186	14	186	186	0	strelka-varscan-mutect	TTLL6,missense_variant,p.Ala580Thr,ENST00000393382,NM_001130918.1;TTLL6,missense_variant,p.Ala273Thr,ENST00000433608,NM_173623.3;TTLL6,3_prime_UTR_variant,,ENST00000376681,;TTLL6,3_prime_UTR_variant,,ENST00000416950,;TTLL6,non_coding_transcript_exon_variant,,ENST00000490027,;TTLL6,downstream_gene_variant,,ENST00000424018,;	T	ENST00000393382	Transcript	missense_variant	1880/3551	1738/2676	580/891	A/T	Gcc/Acc		1		-1	TTLL6	HGNC	HGNC:26664	protein_coding	YES	CCDS45724.1	ENSP00000377043	Q8N841		UPI00017BCE80	NM_001130918.1	tolerated(0.65)		12/16		Low_complexity_(Seg):seg,hmmpanther:PTHR12241:SF96,hmmpanther:PTHR12241																	MODERATE	1	SNV	2			1										PASS		rs1026875124	.												T	3	4	65	48786187	48786187	C	T	1	0	0	0	0	1	0	0	0	17242	739	26	3		3	TTLL6	17	48786187	Missense_Mutation	SNP	C	C3N-00738_TP	4387655	48786187	34471254	159	21491											
ZNF652	0	.	GRCh38	chr17	49317129	49317129	+	Frame_Shift_Del	DEL	G	G	-																															gtaggggaagtggtagctgcGgcaacagaggcagctctcct																								rs759904071		C3N-00738_TP	C3N-00738_NB	G	G																c.597delC	p.Ala200GlnfsTer18	p.A200Qfs*18	ENST00000362063	2/6	206	184	22	321	321	0	sindel-varindel-pindel	ZNF652,frameshift_variant,p.Ala200GlnfsTer18,ENST00000362063,NM_014897.2;ZNF652,frameshift_variant,p.Ala200GlnfsTer18,ENST00000430262,NM_001145365.1;ZNF652,intron_variant,,ENST00000508237,;	-	ENST00000362063	Transcript	frameshift_variant	916/5988	597/1821	199/606	A/X	gcC/gc	rs759904071	1		-1	ZNF652	HGNC	HGNC:29147	protein_coding	YES	CCDS32677.1	ENSP00000354686	Q9Y2D9		UPI000006D93D	NM_014897.2			2/6		Low_complexity_(Seg):seg																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	65	49317129	49317129	G	-	1	0	1	0	1	0	0	0	0	18638	1103	39	0		0	ZNF652	17	49317129	Frame_Shift_Del	DEL	G	C3N-00738_TP	530942	49317129	33940312	160	21492											
MPO	0	.	GRCh38	chr17	58271861	58271861	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccacagtttcaggctgcggGagcccacagaagcgcctcca	9	5	11	16	2	1	1	1	0	0	1	2	2	2	2	4	2	3	2	4	2	1	1	rs569034063		C3N-00738_TP	C3N-00738_NB	G	G																c.1824C>T	p.=	p.L608L	ENST00000225275	11/12	209	193	16	269	269	0	strelka-varscan-mutect	MPO,synonymous_variant,p.=,ENST00000225275,NM_000250.1;MPO,intron_variant,,ENST00000577220,;LPO,downstream_gene_variant,,ENST00000262290,NM_006151.2;LPO,downstream_gene_variant,,ENST00000421678,NM_001160102.1;LPO,downstream_gene_variant,,ENST00000582328,;LPO,downstream_gene_variant,,ENST00000543544,;MPO,downstream_gene_variant,,ENST00000578493,;LPO,downstream_gene_variant,,ENST00000580890,;LPO,downstream_gene_variant,,ENST00000389576,;	A	ENST00000225275	Transcript	synonymous_variant	2001/3215	1824/2238	608/745	L	ctC/ctT	rs569034063	1		-1	MPO	HGNC	HGNC:7218	protein_coding	YES	CCDS11604.1	ENSP00000225275	P05164		UPI0000131634	NM_000250.1			11/12		PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF49,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113																	LOW	1	SNV	1			1										PASS		rs569034063	.												A	2	1	65	58271861	58271861	G	A	1	0	0	0	0	0	0	0	1	9698	1161	41	3		3	MPO	17	58271861	Silent	SNP	G	C3N-00738_TP	8954732	58271861	24985580	161	21493											
TRIM37	0	.	GRCh38	chr17	59031925	59031925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagtgaagcaggtgggCgaggctgtaagccccacaaa	13	4	15	9	1	0	2	0	1	0	1	0	3	0	2	2	3	2	4	2	3	4	1	rs112762655		C3N-00738_TP	C3N-00738_NB	C	C																c.1919G>T	p.Arg640Leu	p.R640L	ENST00000262294	18/24	163	151	12	240	240	0	strelka-varscan-mutect	TRIM37,missense_variant,p.Arg640Leu,ENST00000262294,NM_015294.3;TRIM37,missense_variant,p.Arg640Leu,ENST00000393066,NM_001005207.2;TRIM37,missense_variant,p.Arg606Leu,ENST00000393065,;TRIM37,3_prime_UTR_variant,,ENST00000577554,NM_001320990.1;	A	ENST00000262294	Transcript	missense_variant	2179/4330	1919/2895	640/964	R/L	cGc/cTc	rs112762655	1		-1	TRIM37	HGNC	HGNC:7523	protein_coding	YES	CCDS32694.1	ENSP00000262294	O94972		UPI0000167B57	NM_015294.3	deleterious_low_confidence(0)		18/24																			MODERATE	1	SNV	1			1										PASS		rs112762655	.												A	3	1	65	59031925	59031925	C	A	1	0	0	0	0	1	0	0	0	17000	768	27	1		1	TRIM37	17	59031925	Missense_Mutation	SNP	C	C3N-00738_TP	760064	59031925	24225516	162	21494											
BAHCC1	0	.	GRCh38	chr17	81447443	81447443	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaggagcagggaggaggggGagcaggggccctcgtcaggg	9	2	23	7	1	1	1	1	0	0	1	2	5	1	5	1	8	2	2	1	8	0	0	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.3664G>T	p.Glu1222Ter	p.E1222*	ENST00000584436	12/29	117	108	9	164	164	0	strelka-varscan-mutect	BAHCC1,stop_gained,p.Glu1222Ter,ENST00000584436,NM_001291324.1;BAHCC1,stop_gained,p.Glu1191Ter,ENST00000307745,;MIR3186,downstream_gene_variant,,ENST00000577404,;BAHCC1,downstream_gene_variant,,ENST00000585224,;	T	ENST00000584436	Transcript	stop_gained	4031/10801	3664/7920	1222/2639	E/*	Gag/Tag		1		1	BAHCC1	HGNC	HGNC:29279	protein_coding	YES	CCDS74173.1	ENSP00000462154		A0A075B747	UPI0003EAE637	NM_001291324.1			12/29		Low_complexity_(Seg):seg,hmmpanther:PTHR12505:SF22,hmmpanther:PTHR12505																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	65	81447443	81447443	G	T	1	0	0	0	0	0	1	0	0	1451	1175	41	2		2	BAHCC1	17	81447443	Nonsense_Mutation	SNP	G	C3N-00738_TP	22415518	81447443	1809998	163	21495											
CABLES1	0	.	GRCh38	chr18	23214010	23214010	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggcagaagatccttctgTagtatattttcagtgctgcc	9	14	10	8	0	2	2	1	0	1	2	3	2	3	2	2	1	2	4	2	1	4	6	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.1044T>C	p.=	p.C348C	ENST00000256925	4/10	148	136	12	181	181	0	strelka-varscan-mutect	CABLES1,synonymous_variant,p.=,ENST00000256925,NM_001100619.2;CABLES1,synonymous_variant,p.=,ENST00000420687,NM_138375.2;CABLES1,synonymous_variant,p.=,ENST00000400473,NM_001256438.1;CABLES1,synonymous_variant,p.=,ENST00000582882,;TMEM241,intron_variant,,ENST00000584625,;TMEM241,intron_variant,,ENST00000578790,;CABLES1,intron_variant,,ENST00000585061,;CABLES1,synonymous_variant,p.=,ENST00000579963,;TMEM241,intron_variant,,ENST00000581444,;	C	ENST00000256925	Transcript	synonymous_variant	1044/5002	1044/1902	348/633	C	tgT/tgC		1		1	CABLES1	HGNC	HGNC:25097	protein_coding	YES	CCDS42417.1	ENSP00000256925	Q8TDN4	A7K6Y5	UPI00004C2CAA	NM_001100619.2			4/10		hmmpanther:PTHR22896:SF1,hmmpanther:PTHR22896																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	65	23214010	23214010	T	C	1	0	0	0	0	0	0	0	1	2215	1644	57	5		5	CABLES1	18	23214010	Silent	SNP	T	C3N-00738_TP		23214010	57159275	164	21496											
RNF125	0	.	GRCh38	chr18	32042268	32042268	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaacttgaggagacagcAgcaaggtttgtttcaataca	15	9	10	7	0	1	3	1	1	0	2	1	4	1	3	0	2	4	4	0	2	5	4	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.408A>T	p.=	p.A136A	ENST00000217740	3/6	209	182	27	284	284	0	strelka-varscan-mutect	RNF125,synonymous_variant,p.=,ENST00000217740,NM_017831.3;RNF125,non_coding_transcript_exon_variant,,ENST00000583384,;RP11-53I6.2,non_coding_transcript_exon_variant,,ENST00000583184,;RNF125,non_coding_transcript_exon_variant,,ENST00000583814,;RNF125,non_coding_transcript_exon_variant,,ENST00000580863,;RNF125,intron_variant,,ENST00000580209,;	T	ENST00000217740	Transcript	synonymous_variant	900/6020	408/699	136/232	A	gcA/gcT		1		1	RNF125	HGNC	HGNC:21150	protein_coding	YES	CCDS11902.1	ENSP00000217740	Q96EQ8		UPI000013C731	NM_017831.3			3/6		hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF17																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	65	32042268	32042268	A	T	1	0	0	0	0	0	0	0	1	13612	202	7	4		4	RNF125	18	32042268	Silent	SNP	A	C3N-00738_TP	8828258	32042268	48331017	165	21497											
NOL4	0	.	GRCh38	chr18	33957418	33957418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatactcagggaattgtcGcctgcatgagtcaatgatag	11	12	11	7	1	2	3	2	3	0	0	3	4	2	4	1	1	2	1	1	1	4	4	rs767337796		C3N-00738_TP	C3N-00738_NB	G	G																c.1336C>G	p.Arg446Gly	p.R446G	ENST00000261592	8/11	191	177	14	229	229	0	strelka-varscan-mutect	NOL4,missense_variant,p.Arg446Gly,ENST00000261592,NM_003787.4;NOL4,missense_variant,p.Arg372Gly,ENST00000538587,NM_001198547.1;NOL4,missense_variant,p.Arg161Gly,ENST00000535384,NM_001198549.1;NOL4,intron_variant,,ENST00000589544,NM_001198548.1;NOL4,intron_variant,,ENST00000590712,NM_001198546.1;NOL4,intron_variant,,ENST00000586553,;NOL4,intron_variant,,ENST00000586314,;	C	ENST00000261592	Transcript	missense_variant	1634/3957	1336/1917	446/638	R/G	Cga/Gga	rs767337796	1		-1	NOL4	HGNC	HGNC:7870	protein_coding	YES	CCDS11907.2	ENSP00000261592	O94818		UPI000059D504	NM_003787.4	deleterious(0)		8/11		hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF17																	MODERATE	1	SNV	1			1										PASS		rs767337796	.												C	3	2	65	33957418	33957418	G	C	1	0	0	0	0	1	0	0	0	10567	1095	38	4		4	NOL4	18	33957418	Missense_Mutation	SNP	G	C3N-00738_TP	1915150	33957418	46415867	166	21498											
MAPK4	0	.	GRCh38	chr18	50729363	50729363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgccttcgaggccgactacGggcgctcctgcgactacaag	7	6	13	15	6	0	0	0	0	0	0	2	3	1	0	3	2	3	1	3	2	3	3	rs781183183		C3N-00738_TP	C3N-00738_NB	G	G																c.1273G>T	p.Gly425Trp	p.G425W	ENST00000400384	6/6	89	81	8	99	98	1	strelka-mutect	MAPK4,missense_variant,p.Gly425Trp,ENST00000400384,NM_002747.3;MAPK4,missense_variant,p.Gly214Trp,ENST00000540640,NM_001292039.1;MAPK4,3_prime_UTR_variant,,ENST00000592595,NM_001292040.1;	T	ENST00000400384	Transcript	missense_variant	2309/4770	1273/1764	425/587	G/W	Ggg/Tgg	rs781183183	1		1	MAPK4	HGNC	HGNC:6878	protein_coding	YES	CCDS42437.1	ENSP00000383234	P31152		UPI0000201D20	NM_002747.3	deleterious_low_confidence(0)		6/6																			MODERATE	1	SNV	1			1										PASS		rs781183183	.												T	3	4	65	50729363	50729363	G	T	1	0	0	0	0	1	0	0	0	9204	1116	39	1		1	MAPK4	18	50729363	Missense_Mutation	SNP	G	C3N-00738_TP	16771945	50729363	29643922	167	21499											
CDH20	0	.	GRCh38	chr18	61503027	61503027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtgattatccaagccaagGacatgggagggcagcttgga	13	7	14	7	0	0	1	0	1	0	0	1	4	1	4	2	4	2	2	2	4	4	2	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.736G>T	p.Asp246Tyr	p.D246Y	ENST00000262717	5/12	155	139	16	171	171	0	strelka-varscan-mutect	CDH20,missense_variant,p.Asp246Tyr,ENST00000262717,;CDH20,missense_variant,p.Asp246Tyr,ENST00000536675,NM_031891.2;CDH20,missense_variant,p.Asp246Tyr,ENST00000538374,;	T	ENST00000262717	Transcript	missense_variant	1134/3882	736/2406	246/801	D/Y	Gac/Tac		1		1	CDH20	HGNC	HGNC:1760	protein_coding	YES	CCDS11977.1	ENSP00000262717	Q9HBT6		UPI000013D30D		deleterious(0)		5/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	65	61503027	61503027	G	T	1	0	0	0	0	1	0	0	0	2809	1174	41	2		2	CDH20	18	61503027	Missense_Mutation	SNP	G	C3N-00738_TP	10773664	61503027	18870258	168	21500											
SERPINB10	0	.	GRCh38	chr18	63915646	63915646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccatagtgtatttgggcGccaaaggtaccactgcagcc	10	9	11	11	1	0	1	0	1	0	0	0	1	0	1	4	2	3	3	4	2	4	4	rs375113713		C3N-00738_TP	C3N-00738_NB	G	G																c.136G>T	p.Ala46Ser	p.A46S	ENST00000238508	2/8	122	115	7	136	136	0	strelka-varscan-mutect	SERPINB10,missense_variant,p.Ala46Ser,ENST00000238508,;SERPINB10,missense_variant,p.Ala46Ser,ENST00000619595,NM_005024.1;SERPINB10,missense_variant,p.Ala259Ser,ENST00000397996,;SERPINB10,missense_variant,p.Ala232Ser,ENST00000418725,;	T	ENST00000238508	Transcript	missense_variant	195/2122	136/1194	46/397	A/S	Gcc/Tcc	rs375113713,COSM4072964	1		1	SERPINB10	HGNC	HGNC:8942	protein_coding	YES	CCDS11990.1	ENSP00000238508	P48595		UPI000013558E		tolerated(0.13)		2/8		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF175,SMART_domains:SM00093,Superfamily_domains:SSF56574											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs375113713	.												T	3	4	65	63915646	63915646	G	T	1	0	0	0	0	1	0	0	0	14373	1087	38	1		1	SERPINB10	18	63915646	Missense_Mutation	SNP	G	C3N-00738_TP	2412619	63915646	16457639	169	21501											
TSHZ1	0	.	GRCh38	chr18	75287098	75287098	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccgtctccacggccattaGcaaagctcagaatggtgcgc	10	8	10	13	3	2	1	1	0	1	1	3	1	2	1	3	2	4	2	3	2	4	2	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.1691G>C	p.Ser564Thr	p.S564T	ENST00000580243	2/2	177	161	16	201	201	0	strelka-varscan-mutect	TSHZ1,missense_variant,p.Ser519Thr,ENST00000322038,NM_005786.5;TSHZ1,missense_variant,p.Ser564Thr,ENST00000580243,NM_001308210.1;TSHZ1,downstream_gene_variant,,ENST00000560918,;TSHZ1,downstream_gene_variant,,ENST00000560661,;TSHZ1,non_coding_transcript_exon_variant,,ENST00000584217,;	C	ENST00000580243	Transcript	missense_variant	2039/3582	1691/3234	564/1077	S/T	aGc/aCc		1		1	TSHZ1	HGNC	HGNC:10669	protein_coding	YES	CCDS77199.1	ENSP00000464391	Q6ZSZ6		UPI0000201D5A	NM_001308210.1	deleterious(0)		2/2		hmmpanther:PTHR12487:SF6,hmmpanther:PTHR12487																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	65	75287098	75287098	G	C	1	0	0	0	0	1	0	0	0	17128	971	34	4		4	TSHZ1	18	75287098	Missense_Mutation	SNP	G	C3N-00738_TP	11371452	75287098	5086187	170	21502											
AP3D1	0	.	GRCh38	chr19	2117228	2117228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccgtatccttacccttcgGggactggaaccttcttctgg	5	12	9	15	2	2	0	0	0	2	0	4	2	3	2	5	4	2	1	5	4	3	5	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.1853C>T	p.Pro618Leu	p.P618L	ENST00000355272	16/32	54	46	8	56	56	0	strelka-varscan-mutect	AP3D1,missense_variant,p.Pro618Leu,ENST00000355272,NM_001261826.1;AP3D1,missense_variant,p.Pro618Leu,ENST00000345016,NM_003938.6;AP3D1,non_coding_transcript_exon_variant,,ENST00000591631,;AP3D1,non_coding_transcript_exon_variant,,ENST00000586177,;AP3D1,upstream_gene_variant,,ENST00000585652,;AP3D1,upstream_gene_variant,,ENST00000589223,;AP3D1,downstream_gene_variant,,ENST00000590683,;AP3D1,upstream_gene_variant,,ENST00000592488,;	A	ENST00000355272	Transcript	missense_variant	2060/5034	1853/3648	618/1215	P/L	cCc/cTc		1		-1	AP3D1	HGNC	HGNC:568	protein_coding	YES	CCDS58638.1	ENSP00000347416	O14617		UPI0000202F99	NM_001261826.1	deleterious(0.01)		16/32		hmmpanther:PTHR22781,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037092,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	65	2117228	2117228	G	A	1	0	0	0	0	1	0	0	0	862	1232	43	3		3	AP3D1	19	2117228	Missense_Mutation	SNP	G	C3N-00738_TP		2117228	56500388	171	21503											
DNM2	0	.	GRCh38	chr19	10829186	10829186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcgctcaacatcatcGgtgacatcagcaccagcact	12	6	10	13	2	3	1	3	1	0	0	4	2	3	2	1	3	3	3	1	3	1	0	rs774897265		C3N-00738_TP	C3N-00738_NB	G	G																c.2209G>T	p.Gly737Cys	p.G737C	ENST00000389253	19/21	516	471	45	610	609	1	strelka-varscan-mutect	DNM2,missense_variant,p.Gly733Cys,ENST00000359692,NM_004945.3;DNM2,missense_variant,p.Gly737Cys,ENST00000389253,NM_001005361.2;DNM2,missense_variant,p.Gly737Cys,ENST00000355667,NM_001005360.2;DNM2,missense_variant,p.Gly733Cys,ENST00000408974,NM_001005362.2;DNM2,missense_variant,p.Gly737Cys,ENST00000585892,NM_001190716.1;DNM2,missense_variant,p.Gly26Cys,ENST00000589106,;TMED1,downstream_gene_variant,,ENST00000214869,NM_006858.3;TMED1,downstream_gene_variant,,ENST00000591695,;TMED1,downstream_gene_variant,,ENST00000586835,;TMED1,downstream_gene_variant,,ENST00000589638,;TMED1,downstream_gene_variant,,ENST00000588289,;DNM2,upstream_gene_variant,,ENST00000591818,;MIR6793,downstream_gene_variant,,ENST00000612376,;DNM2,non_coding_transcript_exon_variant,,ENST00000590806,;DNM2,non_coding_transcript_exon_variant,,ENST00000593203,;DNM2,downstream_gene_variant,,ENST00000590787,;TMED1,downstream_gene_variant,,ENST00000591157,;TMED1,downstream_gene_variant,,ENST00000588259,;	T	ENST00000389253	Transcript	missense_variant	2321/3581	2209/2613	737/870	G/C	Ggt/Tgt	rs774897265	1		1	DNM2	HGNC	HGNC:2974	protein_coding	YES	CCDS45969.1	ENSP00000373905	P50570		UPI000049A626	NM_001005361.2	deleterious(0)		19/21		Pfam_domain:PF02212,PROSITE_profiles:PS51388,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF23,SMART_domains:SM00302																	MODERATE		SNV	5			1										PASS		rs774897265	.												T	3	4	65	10829186	10829186	G	T	1	0	0	0	0	1	0	0	0	4485	1116	39	1		1	DNM2	19	10829186	Missense_Mutation	SNP	G	C3N-00738_TP	8711958	10829186	47788430	172	21504											
ZNF490	0	.	GRCh38	chr19	12583538	12583538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgaagttcacagccacatCctcaagggagatggagtcct	11	8	12	10	0	2	2	2	1	0	1	4	4	4	3	3	3	1	1	3	3	2	1	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.181G>T	p.Asp61Tyr	p.D61Y	ENST00000311437	3/5	95	85	10	143	143	0	strelka-varscan-mutect	ZNF490,missense_variant,p.Asp61Tyr,ENST00000311437,NM_020714.2;ZNF490,missense_variant,p.Asp8Tyr,ENST00000440366,;ZNF490,non_coding_transcript_exon_variant,,ENST00000465656,;ZNF490,3_prime_UTR_variant,,ENST00000414906,;CTD-2192J16.20,upstream_gene_variant,,ENST00000593682,;	A	ENST00000311437	Transcript	missense_variant	304/4237	181/1590	61/529	D/Y	Gat/Tat		1		-1	ZNF490	HGNC	HGNC:23705	protein_coding	YES	CCDS12272.1	ENSP00000311521	Q9ULM2		UPI0000001C6F	NM_020714.2	deleterious(0)		3/5		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF16,SMART_domains:SM00349																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	65	12583538	12583538	C	A	1	0	0	0	0	1	0	0	0	18514	855	30	2		2	ZNF490	19	12583538	Missense_Mutation	SNP	C	C3N-00738_TP	1754352	12583538	46034078	173	21505											
KCNN4	0	.	GRCh38	chr19	43776620	43776620	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgtgcatttaaccaggAacaggtagagcgcccactgt	11	9	11	10	2	0	2	0	1	0	1	1	3	0	3	2	2	4	2	2	2	3	3	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.176T>A	p.Phe59Tyr	p.F59Y	ENST00000262888	2/9	161	151	10	191	191	0	strelka-varscan-mutect	KCNN4,missense_variant,p.Phe59Tyr,ENST00000262888,NM_002250.2;KCNN4,5_prime_UTR_variant,,ENST00000615047,;KCNN4,non_coding_transcript_exon_variant,,ENST00000599107,;KCNN4,intron_variant,,ENST00000599720,;KCNN4,upstream_gene_variant,,ENST00000601549,;KCNN4,upstream_gene_variant,,ENST00000600408,;	T	ENST00000262888	Transcript	missense_variant	572/2240	176/1284	59/427	F/Y	tTc/tAc		1		-1	KCNN4	HGNC	HGNC:6293	protein_coding	YES	CCDS12630.1	ENSP00000262888	O15554		UPI0000000DF3	NM_002250.2	tolerated(0.22)		2/9		Pfam_domain:PF03530,hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF41,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	43776620	43776620	A	T	1	0	0	0	0	1	0	0	0	7997	246	9	4		4	KCNN4	19	43776620	Missense_Mutation	SNP	A	C3N-00738_TP	31193082	43776620	14840996	174	21506											
ZNF841	0	.	GRCh38	chr19	52067158	52067158	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtaacgaaagttgcaaaaAatcattcccatatttcctag	16	11	6	8	1	1	0	1	0	0	0	3	1	3	0	2	1	2	3	2	1	7	6	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.724T>C	p.Phe242Leu	p.F242L	ENST00000594295	6/6	101	93	8	171	171	0	strelka-varscan-mutect	ZNF841,missense_variant,p.Phe242Leu,ENST00000594295,NM_001136499.1;ZNF841,missense_variant,p.Phe126Leu,ENST00000426391,NM_001321349.1;ZNF841,missense_variant,p.Phe242Leu,ENST00000389534,;ZNF841,missense_variant,p.Phe138Leu,ENST00000601738,;ZNF432,upstream_gene_variant,,ENST00000600368,;CTC-471J1.2,upstream_gene_variant,,ENST00000569091,;ZNF432,intron_variant,,ENST00000598446,;ZNF841,downstream_gene_variant,,ENST00000595599,;	G	ENST00000594295	Transcript	missense_variant	1127/3819	724/2775	242/924	F/L	Ttt/Ctt		1		-1	ZNF841	HGNC	HGNC:27611	protein_coding	YES	CCDS46161.1	ENSP00000470746	Q6ZN19		UPI00001D818B	NM_001136499.1	tolerated(0.16)		6/6		Superfamily_domains:SSF57667																	MODERATE		SNV	3			1										PASS		.	.												G	3	3	65	52067158	52067158	A	G	1	0	0	0	0	1	0	0	0	18776	14	1	5		5	ZNF841	19	52067158	Missense_Mutation	SNP	A	C3N-00738_TP	8290538	52067158	6550458	175	21507											
ZNF329	0	.	GRCh38	chr19	58128995	58128995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcatacgatttcttgcctCttttcattattttctgatga	7	21	4	9	1	5	2	2	2	3	0	5	3	5	2	1	0	2	0	1	0	2	9	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.509G>A	p.Arg170Lys	p.R170K	ENST00000597186	5/5	100	93	7	156	156	0	strelka-varscan-mutect	ZNF329,missense_variant,p.Arg170Lys,ENST00000597186,;ZNF329,missense_variant,p.Arg170Lys,ENST00000598312,NM_024620.3;ZNF329,missense_variant,p.Arg170Lys,ENST00000358067,;ZNF329,downstream_gene_variant,,ENST00000601887,;ZNF329,missense_variant,p.Arg170Lys,ENST00000500161,;	T	ENST00000597186	Transcript	missense_variant	1187/3930	509/1626	170/541	R/K	aGa/aAa		1		-1	ZNF329	HGNC	HGNC:14209	protein_coding	YES	CCDS12972.1	ENSP00000470323	Q86UD4	A0A024R4Q4	UPI0000246E79		tolerated(0.36)		5/5		hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF118																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	65	58128995	58128995	C	T	1	0	0	0	0	1	0	0	0	18419	913	32	3		3	ZNF329	19	58128995	Missense_Mutation	SNP	C	C3N-00738_TP	6061837	58128995	488621	176	21508											
CENPB	0	.	GRCh38	chr20	3786335	3786335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccgacgccaggatggcgCgcttgttcttcaggatcgtg	5	10	14	12	5	2	0	1	0	1	0	4	3	3	2	2	3	0	3	2	3	0	3	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.149G>T	p.Arg50Leu	p.R50L	ENST00000379751	1/1	178	159	19	207	207	0	strelka-varscan-mutect	CENPB,missense_variant,p.Arg50Leu,ENST00000379751,NM_001810.5;CDC25B,upstream_gene_variant,,ENST00000344256,NM_001287516.1,NM_001287517.1;CDC25B,upstream_gene_variant,,ENST00000379598,NM_001287518.1;SPEF1,upstream_gene_variant,,ENST00000379756,NM_015417.4;SPEF1,upstream_gene_variant,,ENST00000463490,;SPEF1,upstream_gene_variant,,ENST00000471499,;	A	ENST00000379751	Transcript	missense_variant	356/2840	149/1800	50/599	R/L	cGc/cTc		1		-1	CENPB	HGNC	HGNC:1852	protein_coding	YES	CCDS13064.1	ENSP00000369075	P07199		UPI00001274F8	NM_001810.5	tolerated(0.21)		1/1		Gene3D:1.10.10.60,Pfam_domain:PF04218,PROSITE_profiles:PS50960,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF194,Superfamily_domains:SSF46689																	MODERATE		SNV				1										PASS		.	.												A	3	1	65	3786335	3786335	C	A	1	0	0	0	0	1	0	0	0	2935	768	27	1		1	CENPB	20	3786335	Missense_Mutation	SNP	C	C3N-00738_TP		3786335	60657832	177	21509											
PTPRT	0	.	GRCh38	chr20	42677973	42677973	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaacatcggggtccagaTgccacagcttatagttggga	11	9	11	10	1	1	1	1	0	0	1	3	2	2	2	2	3	3	2	2	3	3	3	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.1046A>G	p.His349Arg	p.H349R	ENST00000373198	7/32	366	331	35	428	428	0	strelka-varscan-mutect	PTPRT,missense_variant,p.His349Arg,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.His349Arg,ENST00000373193,;PTPRT,missense_variant,p.His349Arg,ENST00000373201,;PTPRT,missense_variant,p.His349Arg,ENST00000373190,;PTPRT,missense_variant,p.His349Arg,ENST00000373184,;PTPRT,missense_variant,p.His349Arg,ENST00000356100,;PTPRT,missense_variant,p.His349Arg,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.His278Arg,ENST00000620410,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	C	ENST00000373198	Transcript	missense_variant	1282/12746	1046/4383	349/1460	H/R	cAt/cGt		1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	deleterious(0)		7/32		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	65	42677973	42677973	T	C	1	0	0	0	0	1	0	0	0	12967	1464	51	5		5	PTPRT	20	42677973	Missense_Mutation	SNP	T	C3N-00738_TP	38891638	42677973	21766194	178	21510											
DBNDD2	0	.	GRCh38	chr20	45408886	45408886	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttggggacccggatgcAgcagatgtgttcttgccttg	6	11	14	10	1	1	1	0	0	1	1	1	4	1	3	3	3	3	3	3	3	0	4	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.531A>T	p.=	p.A177A	ENST00000372710	2/3	444	405	39	481	481	0	strelka-varscan-mutect	DBNDD2,synonymous_variant,p.=,ENST00000372712,;DBNDD2,synonymous_variant,p.=,ENST00000372720,NM_018478.3;DBNDD2,synonymous_variant,p.=,ENST00000372710,NM_001048225.2;DBNDD2,synonymous_variant,p.=,ENST00000443296,NM_001048226.2;DBNDD2,synonymous_variant,p.=,ENST00000372717,NM_001048224.2;DBNDD2,synonymous_variant,p.=,ENST00000372722,NM_001048222.2;DBNDD2,synonymous_variant,p.=,ENST00000372723,NM_001048221.2;DBNDD2,synonymous_variant,p.=,ENST00000360981,NM_001197139.1,NM_001048223.2;DBNDD2,synonymous_variant,p.=,ENST00000357275,NM_001197140.1;SYS1-DBNDD2,non_coding_transcript_exon_variant,,ENST00000475242,;TP53TG5,upstream_gene_variant,,ENST00000494455,;TP53TG5,upstream_gene_variant,,ENST00000488588,;TP53TG5,upstream_gene_variant,,ENST00000468375,;SYS1-DBNDD2,3_prime_UTR_variant,,ENST00000419593,;SYS1-DBNDD2,3_prime_UTR_variant,,ENST00000452133,;SYS1-DBNDD2,3_prime_UTR_variant,,ENST00000458187,;	T	ENST00000372710	Transcript	synonymous_variant	686/1417	531/792	177/263	A	gcA/gcT		1		1	DBNDD2	HGNC	HGNC:15881	protein_coding	YES	CCDS56194.1	ENSP00000361795	Q9BQY9		UPI00004708B3	NM_001048225.2			2/3		hmmpanther:PTHR16294,hmmpanther:PTHR16294:SF7,Pfam_domain:PF04440																	LOW	1	SNV	1			1										PASS		rs1008218432	.												T	2	4	65	45408886	45408886	A	T	1	0	0	0	0	0	0	0	1	4054	175	7	4		4	DBNDD2	20	45408886	Silent	SNP	A	C3N-00738_TP	2730913	45408886	19035281	179	21511											
ZSWIM1	0	.	GRCh38	chr20	45883845	45883845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctgccggctcagtggaCggcaggctgtgctaccagtc	6	8	14	13	2	1	0	1	0	0	0	2	1	1	1	2	4	4	5	2	4	1	1	rs551866738		C3N-00738_TP	C3N-00738_NB	C	C																c.1253C>T	p.Thr418Met	p.T418M	ENST00000372523	2/2	139	130	9	190	190	0	strelka-varscan-mutect	ZSWIM1,missense_variant,p.Thr418Met,ENST00000372523,NM_080603.4;ZSWIM1,missense_variant,p.Thr418Met,ENST00000372520,;ZSWIM3,downstream_gene_variant,,ENST00000255152,NM_080752.3;NEURL2,downstream_gene_variant,,ENST00000372518,NM_080749.3;SPATA25,downstream_gene_variant,,ENST00000372519,NM_080608.3;NEURL2,downstream_gene_variant,,ENST00000545238,;	T	ENST00000372523	Transcript	missense_variant	1348/2769	1253/1458	418/485	T/M	aCg/aTg	rs551866738	1		1	ZSWIM1	HGNC	HGNC:16155	protein_coding	YES	CCDS13382.2	ENSP00000361601	Q9BR11		UPI0000470896	NM_080603.4	tolerated(0.09)		2/2		hmmpanther:PTHR31569,hmmpanther:PTHR31569:SF0																	MODERATE		SNV	2			1										PASS		rs551866738	.												T	3	4	65	45883845	45883845	C	T	1	0	0	0	0	1	0	0	0	18841	536	19	1		1	ZSWIM1	20	45883845	Missense_Mutation	SNP	C	C3N-00738_TP	474959	45883845	18560322	180	21512											
CBLN4	0	.	GRCh38	chr20	55998731	55998731	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaaggcagatattactggTtttccatttaacatcaagtt	13	14	7	7	0	1	1	1	0	0	1	2	1	2	1	1	2	2	4	1	2	5	7	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.432A>C	p.Lys144Asn	p.K144N	ENST00000064571	3/3	303	270	33	348	348	0	strelka-mutect	CBLN4,missense_variant,p.Lys144Asn,ENST00000064571,NM_080617.5;	G	ENST00000064571	Transcript	missense_variant	1733/3024	432/606	144/201	K/N	aaA/aaC		1		-1	CBLN4	HGNC	HGNC:16231	protein_coding	YES	CCDS13448.1	ENSP00000064571	Q9NTU7		UPI0000046135	NM_080617.5	tolerated(0.33)		3/3		Gene3D:2.60.120.40,Pfam_domain:PF00386,PROSITE_profiles:PS50871,hmmpanther:PTHR22923,hmmpanther:PTHR22923:SF3,SMART_domains:SM00110,Superfamily_domains:SSF49842																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	65	55998731	55998731	T	G	1	0	0	0	0	1	0	0	0	2408	1722	60	5		5	CBLN4	20	55998731	Missense_Mutation	SNP	T	C3N-00738_TP	10114886	55998731	8445436	181	21513											
CSTF1	0	.	GRCh38	chr20	56397829	56397829	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcagcaaaaagagccttCaaatacattcaggtaggaat	17	8	7	9	0	3	1	3	0	0	1	3	2	3	2	2	2	3	2	2	2	6	4	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.633C>T	p.=	p.F211F	ENST00000217109	4/6	185	167	18	229	229	0	strelka-varscan-mutect	CSTF1,synonymous_variant,p.=,ENST00000217109,NM_001033521.1,NM_001324.2,NM_001033522.1;CSTF1,synonymous_variant,p.=,ENST00000415828,;CSTF1,synonymous_variant,p.=,ENST00000452950,;CSTF1,downstream_gene_variant,,ENST00000428552,;CSTF1,downstream_gene_variant,,ENST00000613138,;CSTF1,3_prime_UTR_variant,,ENST00000493039,;CSTF1,3_prime_UTR_variant,,ENST00000490539,;CSTF1,downstream_gene_variant,,ENST00000498689,;	T	ENST00000217109	Transcript	synonymous_variant	985/4290	633/1296	211/431	F	ttC/ttT		1		1	CSTF1	HGNC	HGNC:2483	protein_coding	YES	CCDS13452.1	ENSP00000217109	Q05048		UPI0000000C1E	NM_001033521.1,NM_001324.2,NM_001033522.1			4/6		PROSITE_profiles:PS50294,hmmpanther:PTHR22840,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	65	56397829	56397829	C	T	1	0	0	0	0	0	0	0	1	3783	825	29	3		3	CSTF1	20	56397829	Silent	SNP	C	C3N-00738_TP	399098	56397829	8046338	182	21514											
COL20A1	0	.	GRCh38	chr20	63310473	63310473	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttccccatctatgagggCggggttggcgaaggcctgcg	5	9	17	10	3	1	1	0	1	1	0	2	2	2	1	3	5	1	2	3	5	2	3	rs751998432		C3N-00738_TP	C3N-00738_NB	C	C																c.1356C>A	p.=	p.G452G	ENST00000358894	11/36	178	158	20	186	186	0	strelka-varscan-mutect	COL20A1,synonymous_variant,p.=,ENST00000422202,;COL20A1,synonymous_variant,p.=,ENST00000358894,NM_020882.2;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;	A	ENST00000358894	Transcript	synonymous_variant	1456/4172	1356/3855	452/1284	G	ggC/ggA	rs751998432	1		1	COL20A1	HGNC	HGNC:14670	protein_coding	YES	CCDS46628.1	ENSP00000351767	Q9P218		UPI000051910D	NM_020882.2			11/36		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,Low_complexity_(Seg):seg,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		rs751998432	.												A	2	1	65	63310473	63310473	C	A	1	0	0	0	0	0	0	0	1	3467	755	27	1		1	COL20A1	20	63310473	Silent	SNP	C	C3N-00738_TP	6912644	63310473	1133694	183	21515											
EEF1A2	0	.	GRCh38	chr20	63493171	63493171	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcctgcagcggcaggcgCaggggcttgtccgtggggcg	4	6	19	12	5	0	0	0	0	0	0	2	0	2	0	2	6	2	4	2	6	0	1	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.738G>T	p.=	p.L246L	ENST00000217182	5/8	116	108	8	120	120	0	strelka-varscan-mutect	EEF1A2,synonymous_variant,p.=,ENST00000217182,NM_001958.3;EEF1A2,synonymous_variant,p.=,ENST00000298049,;	A	ENST00000217182	Transcript	synonymous_variant	1067/2006	738/1392	246/463	L	ctG/ctT		1		-1	EEF1A2	HGNC	HGNC:3192	protein_coding	YES	CCDS13522.1	ENSP00000217182	Q05639		UPI0000000136	NM_001958.3			5/8		HAMAP:MF_00118_A,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,Gene3D:2.40.30.10,TIGRFAM_domain:TIGR00483,Superfamily_domains:SSF52540,Superfamily_domains:SSF50447																	LOW	1	SNV	1			1										PASS		rs1333751988	.												A	2	1	65	63493171	63493171	C	A	1	0	0	0	0	0	0	0	1	4753	697	25	2		2	EEF1A2	20	63493171	Silent	SNP	C	C3N-00738_TP	182698	63493171	950996	184	21516											
MICAL3	0	.	GRCh38	chr22	17818243	17818243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctccctgagcttcctcCgcaaggtggcgggctcctcg	3	8	13	17	4	0	1	0	1	0	0	5	1	4	1	5	4	1	3	5	4	1	1	rs766517694		C3N-00738_TP	C3N-00738_NB	C	C																c.4418G>C	p.Arg1473Pro	p.R1473P	ENST00000441493	26/32	72	64	8	102	102	0	strelka-mutect	MICAL3,missense_variant,p.Arg1473Pro,ENST00000441493,NM_015241.2;MICAL3,upstream_gene_variant,,ENST00000577821,;MICAL3,downstream_gene_variant,,ENST00000498573,;MICAL3,downstream_gene_variant,,ENST00000578984,;MICAL3,upstream_gene_variant,,ENST00000579997,;MICAL3,upstream_gene_variant,,ENST00000580469,;	G	ENST00000441493	Transcript	missense_variant	4771/9445	4418/6009	1473/2002	R/P	cGg/cCg	rs766517694	1		-1	MICAL3	HGNC	HGNC:24694	protein_coding	YES	CCDS46659.1	ENSP00000416015	Q7RTP6		UPI0001823FDE	NM_015241.2	deleterious_low_confidence(0.02)		26/32		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF239																	MODERATE	1	SNV	5			1										PASS		rs766517694	.												G	3	3	65	17818243	17818243	C	G	1	0	0	0	0	1	0	0	0	9528	652	23	4		4	MICAL3	22	17818243	Missense_Mutation	SNP	C	C3N-00738_TP		17818243	33000225	185	21517											
KCTD17	0	.	GRCh38	chr22	37056364	37056364	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacatcggcccgctgatcCgcatcatcaaagaccggatg	12	6	9	14	4	2	2	2	1	0	1	4	3	3	3	3	2	1	2	3	2	2	0	rs747167411		C3N-00738_TP	C3N-00738_NB	C	C																c.364C>A	p.Arg122Ser	p.R122S	ENST00000403888	3/9	135	125	10	134	134	0	strelka-varscan-mutect	KCTD17,missense_variant,p.Arg122Ser,ENST00000403888,NM_001282684.1;KCTD17,missense_variant,p.Arg122Ser,ENST00000402077,NM_024681.3;KCTD17,missense_variant,p.Arg122Ser,ENST00000610767,NM_001282686.1;KCTD17,missense_variant,p.Arg77Ser,ENST00000456470,NM_001282685.1;KCTD17,downstream_gene_variant,,ENST00000431531,;RN7SKP214,upstream_gene_variant,,ENST00000364208,;KCTD17,missense_variant,p.Arg85Ser,ENST00000421900,;KCTD17,non_coding_transcript_exon_variant,,ENST00000478231,;KCTD17,non_coding_transcript_exon_variant,,ENST00000483389,;KCTD17,upstream_gene_variant,,ENST00000462640,;	A	ENST00000403888	Transcript	missense_variant	365/1763	364/966	122/321	R/S	Cgc/Agc	rs747167411,COSM5564279,COSM5564280	1		1	KCTD17	HGNC	HGNC:25705	protein_coding	YES	CCDS74854.1	ENSP00000385096	Q8N5Z5		UPI0001610FBA	NM_001282684.1	tolerated(0.06)		3/9		hmmpanther:PTHR14958:SF24,hmmpanther:PTHR14958,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs747167411	.												A	3	1	65	37056364	37056364	C	A	1	0	0	0	0	1	0	0	0	8021	652	23	1		1	KCTD17	22	37056364	Missense_Mutation	SNP	C	C3N-00738_TP	19238121	37056364	13762104	186	21518											
FAM9A	0	.	GRCh38	chrX	8795339	8795339	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggcttctgcttcttctgcTtcatcatctttctgcttctc	2	19	6	14	1	8	0	2	0	6	0	9	0	8	0	0	1	3	4	0	1	0	6	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.570A>G	p.=	p.E190E	ENST00000543214	7/10	195	181	14	202	202	0	strelka-varscan-mutect	FAM9A,synonymous_variant,p.=,ENST00000543214,NM_001171186.1;FAM9A,synonymous_variant,p.=,ENST00000381003,NM_174951.3;	C	ENST00000543214	Transcript	synonymous_variant	706/1544	570/999	190/332	E	gaA/gaG		1		-1	FAM9A	HGNC	HGNC:18403	protein_coding	YES	CCDS14131.1	ENSP00000440163	Q8IZU1		UPI000012A418	NM_001171186.1			7/10		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil																	LOW	1	SNV	1			1										PASS		rs1348258464	.												C	2	2	65	8795339	8795339	T	C	1	0	0	0	0	0	0	0	1	5517	1606	56	5		5	FAM9A	23	8795339	Silent	SNP	T	C3N-00738_TP		8795339	147245556	187	21519											
NHS	0	.	GRCh38	chrX	17725631	17725631	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatctcggagccttcccCgggaaggtaatagaggtggg	10	7	15	9	2	1	2	0	0	1	2	3	4	2	4	3	5	1	1	3	5	4	3			C3N-00738_TP	C3N-00738_NB	C	C																c.1462C>A	p.=	p.R488R	ENST00000380060	6/8	196	181	15	280	279	1	strelka-varscan-mutect	NHS,synonymous_variant,p.=,ENST00000615422,;NHS,synonymous_variant,p.=,ENST00000380060,NM_198270.3,NM_001291867.1;NHS,synonymous_variant,p.=,ENST00000398097,NM_001136024.3;NHS,synonymous_variant,p.=,ENST00000617601,NM_001291868.1;NHS,downstream_gene_variant,,ENST00000485305,;	A	ENST00000380060	Transcript	synonymous_variant	1800/8761	1462/4893	488/1630	R	Cgg/Agg	COSM5412384,COSM5412385	1		1	NHS	HGNC	HGNC:7820	protein_coding	YES	CCDS14181.1	ENSP00000369400	Q6T4R5		UPI00001DFBF3	NM_198270.3,NM_001291867.1			6/8		Pfam_domain:PF15273,hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF5											1,1						LOW	1	SNV	1		1,1	1										PASS		rs965999976	.												A	2	1	65	17725631	17725631	C	A	1	0	0	0	0	0	0	0	1	10443	643	23	1		1	NHS	23	17725631	Silent	SNP	C	C3N-00738_TP	8930292	17725631	138315264	188	21520											
YY2	0	.	GRCh38	chrX	21856835	21856835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaagacgagcacttccaGatgaccctggcctctctgtc	9	10	9	13	1	1	4	0	2	1	2	4	5	2	4	3	1	1	1	3	1	1	2	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.351G>T	p.Gln117His	p.Q117H	ENST00000429584	1/1	206	188	18	262	262	0	strelka-varscan-mutect	YY2,missense_variant,p.Gln117His,ENST00000429584,NM_206923.3;MBTPS2,intron_variant,,ENST00000365779,;MBTPS2,intron_variant,,ENST00000379484,NM_015884.3;MBTPS2,non_coding_transcript_exon_variant,,ENST00000465888,;	T	ENST00000429584	Transcript	missense_variant	849/2741	351/1119	117/372	Q/H	caG/caT		1		1	YY2	HGNC	HGNC:31684	protein_coding	YES	CCDS14202.1	ENSP00000389381	O15391		UPI000006CE0D	NM_206923.3	deleterious(0)		1/1		hmmpanther:PTHR14003,hmmpanther:PTHR14003:SF9,PIRSF_domain:PIRSF037113																	MODERATE		SNV				1										PASS		.	.												T	3	4	65	21856835	21856835	G	T	1	0	0	0	0	1	0	0	0	18070	933	33	2		2	YY2	23	21856835	Missense_Mutation	SNP	G	C3N-00738_TP	4131204	21856835	134184060	189	21521											
LANCL3	0	.	GRCh38	chrX	37572023	37572023	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgggggcggcgcggaggcCcgaggggcgacggcgggggc	3	1	25	12	8	0	0	0	0	0	0	1	3	0	1	1	10	0	0	1	10	0	0	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.153C>A	p.=	p.A51A	ENST00000378619	1/5	113	98	15	143	143	0	strelka-varscan-mutect	LANCL3,synonymous_variant,p.=,ENST00000378621,NM_198511.2;LANCL3,synonymous_variant,p.=,ENST00000378619,NM_001170331.1;LANCL3,synonymous_variant,p.=,ENST00000614025,;RP5-972B16.2,intron_variant,,ENST00000465127,;	A	ENST00000378619	Transcript	synonymous_variant	372/3063	153/1263	51/420	A	gcC/gcA		1		1	LANCL3	HGNC	HGNC:24767	protein_coding	YES	CCDS55398.1	ENSP00000367882	Q6ZV70		UPI000059DAED	NM_001170331.1			1/5		hmmpanther:PTHR12736,hmmpanther:PTHR12736:SF12,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	65	37572023	37572023	C	A	1	0	0	0	0	0	0	0	1	8532	610	22	2		2	LANCL3	23	37572023	Silent	SNP	C	C3N-00738_TP	15715188	37572023	118468872	190	21522											
DGKK	0	.	GRCh38	chrX	50376083	50376083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgtcttggccgtaaaataTatcattcaggatgttagcgc	11	13	9	8	2	3	0	2	0	1	0	3	1	3	1	1	2	1	2	1	2	5	6	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.3355A>G	p.Ile1119Val	p.I1119V	ENST00000611977	24/28	250	235	15	238	238	0	strelka-varscan-mutect	DGKK,missense_variant,p.Ile1119Val,ENST00000611977,NM_001013742.3;	C	ENST00000611977	Transcript	missense_variant	3415/7407	3355/3816	1119/1271	I/V	Ata/Gta		1		-1	DGKK	HGNC	HGNC:32395	protein_coding	YES	CCDS75980.1	ENSP00000477515	Q5KSL6		UPI00004BA922	NM_001013742.3	tolerated(1)		24/28		hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF33																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	65	50376083	50376083	T	C	1	0	0	0	0	1	0	0	0	4278	1406	49	5		5	DGKK	23	50376083	Missense_Mutation	SNP	T	C3N-00738_TP	12804060	50376083	105664812	191	21523											
DGKK	0	.	GRCh38	chrX	50380012	50380012	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgttcttccagtttcctgTaagagcgctgcaaaagttct	8	14	8	11	2	2	1	0	0	2	1	5	1	4	1	2	0	2	6	2	0	3	5	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.2723A>G	p.Tyr908Cys	p.Y908C	ENST00000611977	19/28	226	209	17	274	274	0	strelka-mutect	DGKK,missense_variant,p.Tyr908Cys,ENST00000611977,NM_001013742.3;	C	ENST00000611977	Transcript	missense_variant	2783/7407	2723/3816	908/1271	Y/C	tAc/tGc		1		-1	DGKK	HGNC	HGNC:32395	protein_coding	YES	CCDS75980.1	ENSP00000477515	Q5KSL6		UPI00004BA922	NM_001013742.3	tolerated(0.06)		19/28		hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF33,Pfam_domain:PF00609,SMART_domains:SM00045,Superfamily_domains:SSF111331																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	65	50380012	50380012	T	C	1	0	0	0	0	1	0	0	0	4278	1638	57	5		5	DGKK	23	50380012	Missense_Mutation	SNP	T	C3N-00738_TP	3929	50380012	105660883	192	21524											
TAF1	0	.	GRCh38	chrX	71378926	71378926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgatatcatctgggatGgggaggatgtcaaacacaaa	15	8	13	5	0	3	1	2	1	1	0	3	5	3	5	0	5	1	0	0	5	3	1	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.1315G>T	p.Gly439Trp	p.G439W	ENST00000423759	8/39	315	279	36	364	364	0	strelka-varscan-mutect	TAF1,missense_variant,p.Gly439Trp,ENST00000423759,NM_001286074.1;TAF1,missense_variant,p.Gly418Trp,ENST00000373790,NM_138923.3;TAF1,missense_variant,p.Gly439Trp,ENST00000276072,NM_004606.4;TAF1,downstream_gene_variant,,ENST00000483365,;	T	ENST00000423759	Transcript	missense_variant	1391/7722	1315/5688	439/1895	G/W	Ggg/Tgg		1		1	TAF1	HGNC	HGNC:11535	protein_coding	YES	CCDS69783.1	ENSP00000406549	P21675		UPI000171708A	NM_001286074.1	deleterious(0)		8/39		PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	65	71378926	71378926	G	T	1	0	0	0	0	1	0	0	0	15909	1348	47	2		2	TAF1	23	71378926	Missense_Mutation	SNP	G	C3N-00738_TP	20998914	71378926	84661969	193	21525											
PGK1	0	.	GRCh38	chrX	78113824	78113824	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttatgagccacctaggccGgcctgatggtgtgcccatgc	6	9	12	14	1	0	2	0	2	0	0	0	2	0	2	6	3	3	0	6	3	2	2	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.197G>C	p.Arg66Pro	p.R66P	ENST00000373316	3/11	361	333	28	496	495	1	strelka-varscan-mutect	PGK1,missense_variant,p.Arg66Pro,ENST00000373316,NM_000291.3;PGK1,non_coding_transcript_exon_variant,,ENST00000491291,;PGK1,non_coding_transcript_exon_variant,,ENST00000477335,;	C	ENST00000373316	Transcript	missense_variant	364/4887	197/1254	66/417	R/P	cGg/cCg		1		1	PGK1	HGNC	HGNC:8896	protein_coding	YES	CCDS14438.1	ENSP00000362413	P00558	V9HWF4	UPI00000727EE	NM_000291.3	deleterious(0.01)		3/11		Gene3D:3.40.50.1260,HAMAP:MF_00145,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF12,Superfamily_domains:SSF53748																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	65	78113824	78113824	G	C	1	0	0	0	0	1	0	0	0	11879	1116	39	4		4	PGK1	23	78113824	Missense_Mutation	SNP	G	C3N-00738_TP	6734898	78113824	77927071	194	21526											
PABPC5	0	.	GRCh38	chrX	91435929	91435929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacctggacaaatccataGacaatagggccctgttttac	15	9	7	10	0	0	1	0	0	0	1	1	2	1	2	3	2	2	1	3	2	7	4			C3N-00738_TP	C3N-00738_NB	G	G																c.352G>T	p.Asp118Tyr	p.D118Y	ENST00000312600	2/2	267	245	22	376	376	0	strelka-varscan-mutect	PABPC5,missense_variant,p.Asp118Tyr,ENST00000312600,NM_080832.2;PABPC5,intron_variant,,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;	T	ENST00000312600	Transcript	missense_variant	566/3221	352/1149	118/382	D/Y	Gac/Tac	COSM262716	1		1	PABPC5	HGNC	HGNC:13629	protein_coding	YES	CCDS14460.1	ENSP00000308012	Q96DU9		UPI0000087790	NM_080832.2	deleterious(0)		2/2		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF407,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	65	91435929	91435929	G	T	1	0	0	0	0	1	0	0	0	11445	942	33	2		2	PABPC5	23	91435929	Missense_Mutation	SNP	G	C3N-00738_TP	13322105	91435929	64604966	195	21527											
PABPC5	0	.	GRCh38	chrX	91436553	91436553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaattttcttcctttGggtcaattagtcgggccaaa	10	13	11	7	1	2	0	1	0	1	0	4	2	3	2	2	4	0	0	2	4	4	5	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.976G>T	p.Gly326Trp	p.G326W	ENST00000312600	2/2	311	279	32	390	389	1	strelka-varscan-mutect	PABPC5,missense_variant,p.Gly326Trp,ENST00000312600,NM_080832.2;PABPC5,missense_variant,p.Gly162Trp,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;	T	ENST00000312600	Transcript	missense_variant	1190/3221	976/1149	326/382	G/W	Ggg/Tgg		1		1	PABPC5	HGNC	HGNC:13629	protein_coding	YES	CCDS14460.1	ENSP00000308012	Q96DU9		UPI0000087790	NM_080832.2	deleterious(0)		2/2		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF407,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	91436553	91436553	G	T	1	0	0	0	0	1	0	0	0	11445	1348	47	2		2	PABPC5	23	91436553	Missense_Mutation	SNP	G	C3N-00738_TP	624	91436553	64604342	196	21528											
PCDH19	0	.	GRCh38	chrX	100406932	100406932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccggggtgttgtcgttgaCgtcgaggatgatgacccgca	7	9	16	9	5	0	3	0	3	0	0	2	6	0	4	2	3	0	3	2	3	0	2	novel		C3N-00738_TP	C3N-00738_NB	C	C																c.1666G>A	p.Val556Ile	p.V556I	ENST00000373034	1/6	441	404	37	570	570	0	strelka-varscan-mutect	PCDH19,missense_variant,p.Val556Ile,ENST00000373034,NM_001184880.1;PCDH19,missense_variant,p.Val556Ile,ENST00000255531,NM_001105243.1;PCDH19,missense_variant,p.Val556Ile,ENST00000420881,NM_020766.2;PCDH19,upstream_gene_variant,,ENST00000636150,;	T	ENST00000373034	Transcript	missense_variant	3342/9756	1666/3447	556/1148	V/I	Gtc/Atc		1		-1	PCDH19	HGNC	HGNC:14270	protein_coding	YES	CCDS55462.1	ENSP00000362125	Q8TAB3		UPI00001D7BCD	NM_001184880.1	tolerated(0.19)		1/6		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF40,hmmpanther:PTHR24028,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	100406932	100406932	C	T	1	0	0	0	0	1	0	0	0	11601	536	19	1		1	PCDH19	23	100406932	Missense_Mutation	SNP	C	C3N-00738_TP	8970379	100406932	55633963	197	21529											
ARMCX4	0	.	GRCh38	chrX	101489060	101489060	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgatgctgaggctggcaaAatagttaagaaagaagcagt	16	8	12	5	0	0	4	0	2	0	2	0	4	0	4	0	2	2	5	0	2	6	2	novel		C3N-00738_TP	C3N-00738_NB	A	A																c.471A>T	p.Lys157Asn	p.K157N	ENST00000423738	2/2	167	151	16	226	225	1	strelka-varscan-mutect	ARMCX4,missense_variant,p.Lys157Asn,ENST00000423738,NM_001256155.2;ARMCX4,missense_variant,p.Lys261Asn,ENST00000433011,;ARMCX4,missense_variant,p.Lys261Asn,ENST00000452188,;ARMCX4,missense_variant,p.Lys249Asn,ENST00000354842,;ARMCX4,missense_variant,p.Lys249Asn,ENST00000455331,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;	T	ENST00000423738	Transcript	missense_variant	673/7424	471/6873	157/2290	K/N	aaA/aaT		1		1	ARMCX4	HGNC	HGNC:28615	protein_coding	YES	CCDS59170.1	ENSP00000404304		F8W8Y7	UPI000442CF06	NM_001256155.2	tolerated(0.39)		2/2		hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	65	101489060	101489060	A	T	1	0	0	0	0	1	0	0	0	1102	11	1	4		4	ARMCX4	23	101489060	Missense_Mutation	SNP	A	C3N-00738_TP	1082128	101489060	54551835	198	21530											
KIAA1210	0	.	GRCh38	chrX	119089117	119089117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaagctgaaagcttcttGatcttctaactggatatgag	13	13	8	7	0	4	3	1	3	3	0	4	4	4	4	0	1	3	2	0	1	4	5	rs199571562		C3N-00738_TP	C3N-00738_NB	G	G																c.2113C>A	p.Gln705Lys	p.Q705K	ENST00000402510	11/14	246	228	18	395	395	0	strelka-varscan-mutect	KIAA1210,missense_variant,p.Gln705Lys,ENST00000402510,NM_020721.1;	T	ENST00000402510	Transcript	missense_variant	2113/7824	2113/5130	705/1709	Q/K	Caa/Aaa	rs199571562	1		-1	KIAA1210	HGNC	HGNC:29218	protein_coding	YES	CCDS48156.1	ENSP00000384670	Q9ULL0		UPI0001596C4C	NM_020721.1	tolerated(0.28)		11/14																			MODERATE	1	SNV	5			1										PASS		rs199571562	.												T	3	4	65	119089117	119089117	G	T	1	0	0	0	0	1	0	0	0	8106	1299	45	2		2	KIAA1210	23	119089117	Missense_Mutation	SNP	G	C3N-00738_TP	17600057	119089117	36951778	199	21531											
TENM1	0	.	GRCh38	chrX	124523441	124523441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggtgaaggaagcacaatagGgtttgggctgataaagttgg	12	9	16	4	1	0	2	0	2	0	0	0	3	0	3	0	5	1	4	0	5	6	4	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.2956C>A	p.Pro986Thr	p.P986T	ENST00000422452	17/32	345	315	30	394	394	0	strelka-varscan-mutect	TENM1,missense_variant,p.Pro986Thr,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,missense_variant,p.Pro986Thr,ENST00000371130,NM_014253.3;	T	ENST00000422452	Transcript	missense_variant	3020/12891	2956/8199	986/2732	P/T	Cct/Act		1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1	deleterious(0)		17/32		hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	124523441	124523441	G	T	1	0	0	0	0	1	0	0	0	16171	1232	43	2		2	TENM1	23	124523441	Missense_Mutation	SNP	G	C3N-00738_TP	5434324	124523441	31517454	200	21532											
PRRG3	0	.	GRCh38	chrX	151700816	151700816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcccccaggtggtgctggGgcccagtcgggggggcagga	5	4	20	12	1	0	0	0	0	0	0	1	1	0	1	3	8	2	2	3	8	0	0	novel		C3N-00738_TP	C3N-00738_NB	G	G																c.479G>T	p.Gly160Val	p.G160V	ENST00000370353	4/4	42	33	9	50	50	0	strelka-varscan-mutect	PRRG3,missense_variant,p.Gly160Val,ENST00000370353,;PRRG3,missense_variant,p.Gly160Val,ENST00000538575,NM_024082.3;PRRG3,intron_variant,,ENST00000448324,;PRRG3,downstream_gene_variant,,ENST00000370354,;PRRG3,downstream_gene_variant,,ENST00000448726,;	T	ENST00000370353	Transcript	missense_variant	869/5977	479/696	160/231	G/V	gGg/gTg		1		1	PRRG3	HGNC	HGNC:30798	protein_coding	YES	CCDS14699.1	ENSP00000359378	Q9BZD7		UPI00004578A5		deleterious(0.03)		4/4		hmmpanther:PTHR24251:SF12,hmmpanther:PTHR24251																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	65	151700816	151700816	G	T	1	0	0	0	0	1	0	0	0	12753	1232	43	2		2	PRRG3	23	151700816	Missense_Mutation	SNP	G	C3N-00738_TP	27177375	151700816	4340079	201	21533											
MAGEA4	0	.	GRCh38	chrX	151923805	151923805	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcctcctctcctctggtCcctggcaccctggaggaagt	4	11	9	17	0	2	0	0	0	2	0	7	2	6	2	6	4	0	1	6	4	1	0	rs759371757		C3N-00738_TP	C3N-00738_NB	C	C																c.141C>A	p.=	p.V47V	ENST00000360243	3/3	126	109	17	171	171	0	strelka-varscan-mutect	MAGEA4,synonymous_variant,p.=,ENST00000360243,NM_001011550.1;MAGEA4,synonymous_variant,p.=,ENST00000370335,;MAGEA4,synonymous_variant,p.=,ENST00000370340,;MAGEA4,synonymous_variant,p.=,ENST00000393921,;MAGEA4,synonymous_variant,p.=,ENST00000276344,NM_001011548.1;MAGEA4,synonymous_variant,p.=,ENST00000393920,NM_002362.4,NM_001011549.1;MAGEA4,synonymous_variant,p.=,ENST00000416020,;MAGEA4,synonymous_variant,p.=,ENST00000431971,;MAGEA4,synonymous_variant,p.=,ENST00000441865,;MAGEA4,synonymous_variant,p.=,ENST00000457310,;MAGEA4,synonymous_variant,p.=,ENST00000430273,;MAGEA4,synonymous_variant,p.=,ENST00000425182,;MAGEA4,synonymous_variant,p.=,ENST00000448295,;MAGEA4,synonymous_variant,p.=,ENST00000431963,;	A	ENST00000360243	Transcript	synonymous_variant	408/1773	141/954	47/317	V	gtC/gtA	rs759371757	1		1	MAGEA4	HGNC	HGNC:6802	protein_coding	YES	CCDS14702.1	ENSP00000353379	P43358	A0A024RC12	UPI000013EA1F	NM_001011550.1			3/3		hmmpanther:PTHR11736:SF48,hmmpanther:PTHR11736,Pfam_domain:PF12440,SMART_domains:SM01392																	LOW	1	SNV	1			1										PASS		rs759371757	.												A	2	1	65	151923805	151923805	C	A	1	0	0	0	0	0	0	0	1	9084	842	30	2		2	MAGEA4	23	151923805	Silent	SNP	C	C3N-00738_TP	222989	151923805	4117090	202	21534											
GABRE	0	.	GRCh38	chrX	151962502	151962502	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctcatgctcgtgggtccTcttagaattcctaaaaaagg	11	12	9	9	1	2	1	1	0	2	1	6	2	4	1	2	2	1	1	2	2	5	3	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.484A>T	p.Arg162Trp	p.R162W	ENST00000370328	4/9	266	245	21	315	315	0	strelka-varscan-mutect	GABRE,missense_variant,p.Arg162Trp,ENST00000370328,NM_004961.3;GABRE,upstream_gene_variant,,ENST00000385020,;GABRE,upstream_gene_variant,,ENST00000384889,;GABRE,upstream_gene_variant,,ENST00000462018,;GABRE,3_prime_UTR_variant,,ENST00000441219,;GABRE,non_coding_transcript_exon_variant,,ENST00000476016,;GABRE,non_coding_transcript_exon_variant,,ENST00000474932,;GABRE,upstream_gene_variant,,ENST00000486255,;	A	ENST00000370328	Transcript	missense_variant	538/3152	484/1521	162/506	R/W	Agg/Tgg		1		-1	GABRE	HGNC	HGNC:4085	protein_coding	YES	CCDS14703.1	ENSP00000359353	P78334		UPI00000307E6	NM_004961.3	deleterious(0)		4/9		hmmpanther:PTHR18945:SF397,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	65	151962502	151962502	T	A	1	0	0	0	0	1	0	0	0	6041	1550	54	4		4	GABRE	23	151962502	Missense_Mutation	SNP	T	C3N-00738_TP	38697	151962502	4078393	203	21535											
AVPR2	0	.	GRCh38	chrX	153905943	153905943	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatctgccgtcccatgcTggcgtaccgccatggaagtg	6	9	12	14	3	1	0	0	0	1	0	2	1	2	1	5	2	4	2	5	2	2	1	novel		C3N-00738_TP	C3N-00738_NB	T	T																c.437T>A	p.Leu146Gln	p.L146Q	ENST00000358927	3/4	616	554	62	686	686	0	strelka-varscan-mutect	AVPR2,missense_variant,p.Leu146Gln,ENST00000358927,;AVPR2,missense_variant,p.Leu146Gln,ENST00000337474,NM_000054.4;AVPR2,missense_variant,p.Leu146Gln,ENST00000370049,NM_001146151.1;AVPR2,missense_variant,p.Leu146Gln,ENST00000430697,;ARHGAP4,downstream_gene_variant,,ENST00000370028,NM_001164741.1;ARHGAP4,downstream_gene_variant,,ENST00000350060,NM_001666.4;ARHGAP4,downstream_gene_variant,,ENST00000370016,;ARHGAP4,downstream_gene_variant,,ENST00000393721,;ARHGAP4,downstream_gene_variant,,ENST00000442172,;ARHGAP4,downstream_gene_variant,,ENST00000454164,;ARHGAP4,downstream_gene_variant,,ENST00000467421,;AVPR2,intron_variant,,ENST00000434679,;L1CAM,intron_variant,,ENST00000464967,;ARHGAP4,downstream_gene_variant,,ENST00000404127,;ARHGAP4,downstream_gene_variant,,ENST00000470209,;ARHGAP4,downstream_gene_variant,,ENST00000420383,;ARHGAP4,downstream_gene_variant,,ENST00000494302,;ARHGAP4,downstream_gene_variant,,ENST00000494397,;ARHGAP4,downstream_gene_variant,,ENST00000466928,;ARHGAP4,downstream_gene_variant,,ENST00000461739,;	A	ENST00000358927	Transcript	missense_variant	646/1763	437/1116	146/371	L/Q	cTg/cAg		1		1	AVPR2	HGNC	HGNC:897	protein_coding	YES	CCDS14735.1	ENSP00000351805	P30518		UPI000005043B		tolerated(0.51)		3/4		PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF20,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00898																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	65	153905943	153905943	T	A	1	0	0	0	0	1	0	0	0	1389	1580	55	4		4	AVPR2	23	153905943	Missense_Mutation	SNP	T	C3N-00738_TP	1943441	153905943	2134952	204	21536											
MECP2	0	.	GRCh38	chrX	154032319	154032319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacatgggtccccggtcacGgatgatggagcgccgctgtt	7	9	14	11	4	1	1	1	1	0	0	2	3	2	3	3	4	2	2	3	4	1	2	rs782601477		C3N-00738_TP	C3N-00738_NB	G	G																c.301C>A	p.Arg101Ser	p.R101S	ENST00000453960	2/3	140	124	16	182	182	0	strelka-varscan-mutect	MECP2,missense_variant,p.Arg89Ser,ENST00000303391,NM_004992.3;MECP2,missense_variant,p.Arg101Ser,ENST00000453960,NM_001110792.1;MECP2,missense_variant,p.Arg89Ser,ENST00000628176,;MECP2,missense_variant,p.Arg101Ser,ENST00000407218,;MECP2,missense_variant,p.Arg85Ser,ENST00000622433,;MECP2,missense_variant,p.Arg85Ser,ENST00000611468,;MECP2,downstream_gene_variant,,ENST00000415944,;MECP2,downstream_gene_variant,,ENST00000630151,;MECP2,upstream_gene_variant,,ENST00000637917,;MECP2,downstream_gene_variant,,ENST00000460227,;MECP2,downstream_gene_variant,,ENST00000488293,;MECP2,downstream_gene_variant,,ENST00000463644,;MECP2,downstream_gene_variant,,ENST00000626422,;MECP2,downstream_gene_variant,,ENST00000631210,;MECP2,downstream_gene_variant,,ENST00000625300,;MECP2,downstream_gene_variant,,ENST00000496908,;MECP2,downstream_gene_variant,,ENST00000637533,;MECP2,downstream_gene_variant,,ENST00000637791,;MECP2,3_prime_UTR_variant,,ENST00000369957,;MECP2,non_coding_transcript_exon_variant,,ENST00000486506,;MECP2,downstream_gene_variant,,ENST00000481807,;	T	ENST00000453960	Transcript	missense_variant	400/1729	301/1497	101/498	R/S	Cgt/Agt	rs782601477	1		-1	MECP2	HGNC	HGNC:6990	protein_coding	YES	CCDS48193.1	ENSP00000395535	P51608	A0A140VKC4	UPI0000253F1B	NM_001110792.1	deleterious(0)		2/3		hmmpanther:PTHR15074,hmmpanther:PTHR15074:SF4,Gene3D:3.30.890.10,PIRSF_domain:PIRSF038006,Superfamily_domains:SSF54171																	MODERATE	1	SNV	1			1										PASS		rs782601477	.												T	3	4	65	154032319	154032319	G	T	1	0	0	0	0	1	0	0	0	9362	1116	39	1		1	MECP2	23	154032319	Missense_Mutation	SNP	G	C3N-00738_TP	126376	154032319	2008576	205	21537											
SLC2A5	0	.	GRCh38	chr1	9040077	9040077	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttacctttcttggcggcCgcttcgtctttcttctgaat	3	18	8	12	4	4	1	0	1	4	0	6	1	4	1	2	2	1	2	2	2	2	6	novel		C3N-00959_TP	C3N-00959_NB	C	C																c.684G>A	p.=	p.A228A	ENST00000377424	6/12	48	39	9	71	71	0	strelka-varscan-mutect	SLC2A5,synonymous_variant,p.=,ENST00000377424,NM_003039.2;SLC2A5,downstream_gene_variant,,ENST00000377414,NM_001135585.1;SLC2A5,downstream_gene_variant,,ENST00000486632,;SLC2A5,downstream_gene_variant,,ENST00000474145,;SLC2A5,downstream_gene_variant,,ENST00000479813,;SLC2A5,downstream_gene_variant,,ENST00000487835,;SLC2A5,downstream_gene_variant,,ENST00000484798,;SLC2A5,upstream_gene_variant,,ENST00000487492,;	T	ENST00000377424	Transcript	synonymous_variant	864/4165	684/1506	228/501	A	gcG/gcA		1		-1	SLC2A5	HGNC	HGNC:11010	protein_coding	YES	CCDS99.1	ENSP00000366641	P22732		UPI00000532AC	NM_003039.2			6/12		PROSITE_profiles:PS50850,hmmpanther:PTHR23503,hmmpanther:PTHR23503:SF32,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00879,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	66	9040077	9040077	C	T	1	0	0	0	0	0	0	0	1	14818	639	23	1		1	SLC2A5	1	9040077	Silent	SNP	C	C3N-00959_TP		9040077	239916345	1	21538											
PADI4	0	.	GRCh38	chr1	17354575	17354575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcgagggccccaaacagggGgtatcagtggactggactcc	9	6	14	12	1	1	0	1	0	0	0	3	3	2	2	3	5	1	1	3	5	2	1	novel		C3N-00959_TP	C3N-00959_NB	G	G																c.1198G>A	p.Gly400Ser	p.G400S	ENST00000375448	11/16	156	136	20	216	216	0	strelka-varscan-mutect	PADI4,missense_variant,p.Gly400Ser,ENST00000375448,NM_012387.2;PADI4,non_coding_transcript_exon_variant,,ENST00000487048,;PADI4,non_coding_transcript_exon_variant,,ENST00000467001,;	A	ENST00000375448	Transcript	missense_variant	1224/2267	1198/1992	400/663	G/S	Ggt/Agt		1		1	PADI4	HGNC	HGNC:18368	protein_coding	YES	CCDS180.1	ENSP00000364597	Q9UM07		UPI000013DFF1	NM_012387.2	tolerated(0.86)		11/16		Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF3,Superfamily_domains:SSF55909																	MODERATE	1	SNV	1			1										PASS		rs1168147339	.												A	3	1	66	17354575	17354575	G	A	1	0	0	0	0	1	0	0	0	11458	1232	43	3		3	PADI4	1	17354575	Missense_Mutation	SNP	G	C3N-00959_TP	8314498	17354575	231601847	2	21539											
DNM3	0	.	GRCh38	chr1	172032421	172032421	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctgagaaccattggagtTatcaccaaactggaccttat	12	11	9	9	0	2	1	1	1	1	1	2	4	2	3	3	3	2	1	3	3	4	3	novel		C3N-00959_TP	C3N-00959_NB	T	T																c.609T>G	p.=	p.V203V	ENST00000627582	5/21	131	96	35	158	158	0	strelka-varscan-mutect	DNM3,synonymous_variant,p.=,ENST00000627582,NM_015569.4;DNM3,synonymous_variant,p.=,ENST00000367731,NM_001136127.2;DNM3,synonymous_variant,p.=,ENST00000520906,;DNM3,synonymous_variant,p.=,ENST00000355305,;DNM3,synonymous_variant,p.=,ENST00000367733,NM_001278252.1;DNM3,synonymous_variant,p.=,ENST00000523513,;	G	ENST00000627582	Transcript	synonymous_variant	766/7625	609/2592	203/863	V	gtT/gtG		1		1	DNM3	HGNC	HGNC:29125	protein_coding	YES	CCDS53431.1	ENSP00000486701	Q9UQ16		UPI0000251D91	NM_015569.4			5/21		Gene3D:3.40.50.300,Pfam_domain:PF00350,Prints_domain:PR00195,PROSITE_profiles:PS51718,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF54,SMART_domains:SM00053,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	66	172032421	172032421	T	G	1	0	0	0	0	0	0	0	1	4486	1741	61	5		5	DNM3	1	172032421	Silent	SNP	T	C3N-00959_TP	154677846	172032421	76924001	3	21540											
KCNK3	0	.	GRCh38	chr2	26727708	26727717	+	Frame_Shift_Del	DEL	TTCTGCATGT	TTCTGCATGT	-																															gcacggatggcggcaaggtgTtctgcatgttctacgcgctg																								novel		C3N-00959_TP	C3N-00959_NB	TTCTGCATGT	TTCTGCATGT																c.326_335delTCTGCATGTT	p.Phe109SerfsTer25	p.F109Sfs*25	ENST00000302909	2/2	27	23	4	19	19	0	sindel-pindel	KCNK3,frameshift_variant,p.Phe109SerfsTer25,ENST00000302909,NM_002246.2;KCNK3,5_prime_UTR_variant,,ENST00000620977,;	-	ENST00000302909	Transcript	frameshift_variant	450-459/6162	325-334/1185	109-112/394	FCMF/X	TTCTGCATGTtc/tc		1		1	KCNK3	HGNC	HGNC:6278	protein_coding	YES	CCDS1727.1	ENSP00000306275	O14649		UPI00000422B1	NM_002246.2			2/2		Gene3D:1.10.287.70,Pfam_domain:PF07885,PIRSF_domain:PIRSF038061,Prints_domain:PR01333,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF138,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	66	26727708	26727708	TTCTGCATGT	-	1	0	1	0	1	0	0	0	0	7984	1725	60	0		0	KCNK3	2	26727708	Frame_Shift_Del	DEL	TTCTGCATGT	C3N-00959_TP		26727708	215465821	4	21541											
CLHC1	0	.	GRCh38	chr2	55175835	55175835	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactgcgtcatcctcttcAgaaatttctgtaactgcagc	9	14	7	11	1	4	2	2	1	2	1	5	2	5	2	1	0	4	2	1	0	2	4	novel		C3N-00959_TP	C3N-00959_NB	A	A																c.1716T>C	p.=	p.S572S	ENST00000401408	13/13	171	117	54	149	149	0	strelka-varscan-mutect	CLHC1,synonymous_variant,p.=,ENST00000401408,NM_152385.2;CLHC1,synonymous_variant,p.=,ENST00000407122,;CLHC1,synonymous_variant,p.=,ENST00000406076,NM_001135598.1;CLHC1,non_coding_transcript_exon_variant,,ENST00000494539,;CLHC1,downstream_gene_variant,,ENST00000487320,;CLHC1,3_prime_UTR_variant,,ENST00000428621,;CLHC1,downstream_gene_variant,,ENST00000411884,;	G	ENST00000401408	Transcript	synonymous_variant	2062/2248	1716/1761	572/586	S	tcT/tcC		1		-1	CLHC1	HGNC	HGNC:26453	protein_coding	YES	CCDS33201.1	ENSP00000384869	Q8NHS4		UPI00004DEC65	NM_152385.2			13/13		PIRSF_domain:PIRSF037469,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF11																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	66	55175835	55175835	A	G	1	0	0	0	0	0	0	0	1	3293	175	7	5		5	CLHC1	2	55175835	Silent	SNP	A	C3N-00959_TP	28448127	55175835	187017694	5	21542											
KANSL3	0	.	GRCh38	chr2	96610787	96610787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctcgaatcttctcccGgaagtcctccatggcttcag	7	11	8	15	2	4	0	2	0	2	0	8	2	6	1	3	2	1	2	3	2	2	2	novel		C3N-00959_TP	C3N-00959_NB	G	G																c.1258C>T	p.Arg420Trp	p.R420W	ENST00000431828	11/21	210	196	14	185	185	0	strelka-varscan-mutect	KANSL3,missense_variant,p.Arg420Trp,ENST00000431828,NM_001115016.2;KANSL3,downstream_gene_variant,,ENST00000448075,;KANSL3,non_coding_transcript_exon_variant,,ENST00000487070,;KANSL3,downstream_gene_variant,,ENST00000464738,;KANSL3,missense_variant,p.Arg420Trp,ENST00000420155,;KANSL3,3_prime_UTR_variant,,ENST00000354204,;KANSL3,3_prime_UTR_variant,,ENST00000447759,;KANSL3,3_prime_UTR_variant,,ENST00000597150,;KANSL3,3_prime_UTR_variant,,ENST00000444759,;KANSL3,3_prime_UTR_variant,,ENST00000425656,;KANSL3,3_prime_UTR_variant,,ENST00000452268,;KANSL3,non_coding_transcript_exon_variant,,ENST00000488907,;KANSL3,upstream_gene_variant,,ENST00000476534,;KANSL3,downstream_gene_variant,,ENST00000451819,;KANSL3,downstream_gene_variant,,ENST00000418735,;KANSL3,downstream_gene_variant,,ENST00000416138,;	A	ENST00000431828	Transcript	missense_variant	1335/5153	1258/2637	420/878	R/W	Cgg/Tgg		1		-1	KANSL3	HGNC	HGNC:25473	protein_coding	YES	CCDS46361.1	ENSP00000396749	Q9P2N6		UPI0000207C82	NM_001115016.2	deleterious(0.01)		11/21		hmmpanther:PTHR13136,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	66	96610787	96610787	G	A	1	0	0	0	0	1	0	0	0	7892	1115	39	1		1	KANSL3	2	96610787	Missense_Mutation	SNP	G	C3N-00959_TP	41434952	96610787	145582742	6	21543											
TTN	0	.	GRCh38	chr2	178740294	178740295	+	Frame_Shift_Ins	INS	-	-	T																															ccgcagaatcttgccctgcaINSttttccagtggatttgcact																								novel		C3N-00959_TP	C3N-00959_NB	-	-																c.12938dupA	p.Asn4313LysfsTer11	p.N4313Kfs*11	ENST00000589042	48/363	140	125	15	141	141	0	sindel-varindel-pindel	TTN,frameshift_variant,p.Asn4313LysfsTer11,ENST00000589042,NM_001267550.2;TTN,frameshift_variant,p.Asn3996LysfsTer11,ENST00000591111,;TTN,frameshift_variant,p.Asn3996LysfsTer11,ENST00000615779,NM_001256850.1;TTN,frameshift_variant,p.Asn3950LysfsTer11,ENST00000460472,NM_003319.4;TTN,frameshift_variant,p.Asn4142LysfsTer11,ENST00000342175,NM_133437.4;TTN,frameshift_variant,p.Asn4075LysfsTer11,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000342992,NM_133378.4;TTN,downstream_gene_variant,,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000582847,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000627661,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,intron_variant,,ENST00000631319,;TTN-AS1,upstream_gene_variant,,ENST00000578746,;TTN-AS1,downstream_gene_variant,,ENST00000625480,;	T	ENST00000589042	Transcript	frameshift_variant	13163-13164/109224	12938-12939/107976	4313/35991	N/KX	aat/aaAt		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			48/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10																	HIGH	1	insertion	5			1										PASS		.	.												T	7	5	66	178740294	178740294	-	T	1	0	1	1	0	0	0	0	0	17245	214	8	0		0	TTN	2	178740294	Frame_Shift_Ins	INS	-	C3N-00959_TP	82129507	178740294	63453235	7	21544											
MROH2A	0	.	GRCh38	chr2	233798806	233798806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtatcagggccatctacctgGctatccgggtagtcaagaac	10	9	11	11	1	3	1	2	0	1	1	4	1	4	1	3	3	2	3	3	3	6	4	novel		C3N-00959_TP	C3N-00959_NB	G	G																c.1294G>T	p.Ala432Ser	p.A432S	ENST00000610772	12/42	187	155	32	188	188	0	strelka-varscan-mutect	MROH2A,missense_variant,p.Ala429Ser,ENST00000389758,;MROH2A,missense_variant,p.Ala432Ser,ENST00000610772,NM_001287395.1;MROH2A,downstream_gene_variant,,ENST00000480634,;MROH2A,non_coding_transcript_exon_variant,,ENST00000477506,;	T	ENST00000610772	Transcript	missense_variant	1387/5324	1294/5067	432/1688	A/S	Gct/Tct		1		1	MROH2A	HGNC	HGNC:27936	protein_coding	YES	CCDS74674.1	ENSP00000477597		A0A087WT58	UPI00021AED4F	NM_001287395.1	tolerated(0.19)		12/42		Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	66	233798806	233798806	G	T	1	0	0	0	0	1	0	0	0	9744	1203	42	2		2	MROH2A	2	233798806	Missense_Mutation	SNP	G	C3N-00959_TP	55058512	233798806	8394723	8	21545											
SETD2	0	.	GRCh38	chr3	47101479	47101479	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatctctggaactgatagTcaaacgttaactctgagcct	12	12	7	10	1	3	2	1	2	2	0	4	3	3	3	1	1	4	1	1	1	5	3			C3N-00959_TP	C3N-00959_NB	T	T																c.4994A>G	p.Asp1665Gly	p.D1665G	ENST00000409792	8/21	91	86	5	157	157	0	strelka-varscan-mutect	SETD2,missense_variant,p.Asp1665Gly,ENST00000409792,NM_014159.6;SETD2,missense_variant,p.Asp1299Gly,ENST00000445387,;SETD2,3_prime_UTR_variant,,ENST00000330022,;SETD2,3_prime_UTR_variant,,ENST00000431180,;SETD2,upstream_gene_variant,,ENST00000484689,;	C	ENST00000409792	Transcript	missense_variant	5037/8142	4994/7695	1665/2564	D/G	gAc/gGc	COSM1660292,COSM1660293	1		-1	SETD2	HGNC	HGNC:18420	protein_coding	YES	CCDS2749.2	ENSP00000386759	Q9BYW2		UPI00017E10FB	NM_014159.6	deleterious(0)		8/21		PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF344,Gene3D:2.170.270.10,Pfam_domain:PF00856,SMART_domains:SM00317,Superfamily_domains:SSF82199											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												C	3	2	66	47101479	47101479	T	C	1	0	0	0	0	1	0	0	0	14409	1667	58	5		5	SETD2	3	47101479	Missense_Mutation	SNP	T	C3N-00959_TP		47101479	151194080	9	21546											
SETD2	0	.	GRCh38	chr3	47123840	47123841	+	Frame_Shift_Ins	INS	-	-	T																															ttcaatatttgagttacgtgINSttcttctaaactattagata																								novel		C3N-00959_TP	C3N-00959_NB	-	-																c.795dupA	p.His266ThrfsTer8	p.H266Tfs*8	ENST00000409792	3/21	69	57	12	65	65	0	sindel-varindel-pindel	SETD2,frameshift_variant,p.His266ThrfsTer8,ENST00000409792,NM_014159.6;SETD2,frameshift_variant,p.His222ThrfsTer8,ENST00000412450,;SETD2,frameshift_variant,p.His138ThrfsTer8,ENST00000330022,;SETD2,upstream_gene_variant,,ENST00000431180,;SETD2,upstream_gene_variant,,ENST00000445387,;	T	ENST00000409792	Transcript	frameshift_variant	838-839/8142	795-796/7695	265-266/2564	-/X	-/A		1		-1	SETD2	HGNC	HGNC:18420	protein_coding	YES	CCDS2749.2	ENSP00000386759	Q9BYW2		UPI00017E10FB	NM_014159.6			3/21		hmmpanther:PTHR22884:SF344,hmmpanther:PTHR22884																	HIGH	1	insertion	5			1										PASS		.	.												T	7	5	66	47123840	47123840	-	T	1	0	1	1	0	0	0	0	0	14409	1377	48	0		0	SETD2	3	47123840	Frame_Shift_Ins	INS	-	C3N-00959_TP	22361	47123840	151171719	10	21547											
SMARCC1	0	.	GRCh38	chr3	47675573	47675573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggaaaatttagcatctGttgagcagcaggaacctgag	13	9	11	8	0	2	2	1	2	1	0	2	4	2	4	1	2	4	4	1	2	4	3	novel		C3N-00959_TP	C3N-00959_NB	G	G																c.1741C>A	p.Gln581Lys	p.Q581K	ENST00000254480	18/28	143	117	26	169	169	0	strelka-varscan-mutect	SMARCC1,missense_variant,p.Gln581Lys,ENST00000254480,NM_003074.3;SMARCC1,non_coding_transcript_exon_variant,,ENST00000425518,;SMARCC1,downstream_gene_variant,,ENST00000462198,;SMARCC1,non_coding_transcript_exon_variant,,ENST00000483847,;SMARCC1,downstream_gene_variant,,ENST00000485737,;	T	ENST00000254480	Transcript	missense_variant	1861/6375	1741/3318	581/1105	Q/K	Cag/Aag		1		-1	SMARCC1	HGNC	HGNC:11104	protein_coding	YES	CCDS2758.1	ENSP00000254480	Q92922		UPI000013CE3B	NM_003074.3	tolerated(0.14)		18/28		hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	66	47675573	47675573	G	T	1	0	0	0	0	1	0	0	0	15068	1386	48	2		2	SMARCC1	3	47675573	Missense_Mutation	SNP	G	C3N-00959_TP	551733	47675573	150619986	11	21548											
UBE2QL1	0	.	GRCh38	chr5	6491343	6491343	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccccgcccgtgtccgaCggctgatgtctgccacgtgc	4	8	12	17	5	2	1	1	1	1	0	3	2	3	1	5	1	2	1	5	1	0	0			C3N-00959_TP	C3N-00959_NB	C	C																c.480C>T	p.=	p.D160D	ENST00000399816	2/2	37	32	5	74	74	0	strelka-mutect	UBE2QL1,synonymous_variant,p.=,ENST00000399816,NM_001145161.2;	T	ENST00000399816	Transcript	synonymous_variant	751/4317	480/486	160/161	D	gaC/gaT	COSM165369	1		1	UBE2QL1	HGNC	HGNC:37269	protein_coding	YES	CCDS47189.1	ENSP00000382713	A1L167		UPI000020BF29	NM_001145161.2			2/2		hmmpanther:PTHR24068:SF72,hmmpanther:PTHR24068											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	66	6491343	6491343	C	T	1	0	0	0	0	0	0	0	1	17393	535	19	1		1	UBE2QL1	5	6491343	Silent	SNP	C	C3N-00959_TP		6491343	175046916	12	21549											
PDZD2	0	.	GRCh38	chr5	31799331	31799331	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgcaggaaggtggggAtgggccggagcagcggctct	7	5	19	10	2	1	0	0	0	1	0	1	3	1	3	2	7	4	3	2	7	1	0	novel		C3N-00959_TP	C3N-00959_NB	A	A																c.83A>G	p.Asp28Gly	p.D28G	ENST00000438447	2/25	127	113	14	117	117	0	strelka-varscan-mutect	PDZD2,missense_variant,p.Asp28Gly,ENST00000438447,NM_178140.2;PDZD2,downstream_gene_variant,,ENST00000513910,;PDZD2,non_coding_transcript_exon_variant,,ENST00000502824,;	G	ENST00000438447	Transcript	missense_variant	471/11704	83/8520	28/2839	D/G	gAt/gGt		1		1	PDZD2	HGNC	HGNC:18486	protein_coding	YES	CCDS34137.1	ENSP00000402033	O15018	A0A024RE15	UPI000069648B	NM_178140.2	deleterious(0.04)		2/25																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	66	31799331	31799331	A	G	1	0	0	0	0	1	0	0	0	11789	333	12	5		5	PDZD2	5	31799331	Missense_Mutation	SNP	A	C3N-00959_TP	25307988	31799331	149738928	13	21550											
TENM2	0	.	GRCh38	chr5	168118478	168118478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctacaaaggcgagcactGtgaggaaggtaagcccgccg	11	5	15	10	3	0	1	0	1	0	0	0	3	0	2	2	4	3	3	2	4	4	2	novel		C3N-00959_TP	C3N-00959_NB	G	G																c.2000G>T	p.Cys667Phe	p.C667F	ENST00000518659	10/29	28	25	3	30	30	0	strelka-mutect	TENM2,missense_variant,p.Cys546Phe,ENST00000519204,;TENM2,missense_variant,p.Cys667Phe,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Cys435Phe,ENST00000520394,;CTB-178M22.1,intron_variant,,ENST00000517408,;	T	ENST00000518659	Transcript	missense_variant	2039/8550	2000/8325	667/2774	C/F	tGt/tTt		1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1	deleterious(0)		10/29		PROSITE_profiles:PS50026,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,Gene3D:2.10.25.10,SMART_domains:SM00181,PD936484																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	66	168118478	168118478	G	T	1	0	0	0	0	1	0	0	0	16172	1377	48	2		2	TENM2	5	168118478	Missense_Mutation	SNP	G	C3N-00959_TP	136319147	168118478	13419781	14	21551											
DDX39B	0	.	GRCh38	chr6	31536668	31536668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgatagacagaccacCaaaaaaaacagcaacctgcc	17	6	5	13	0	1	3	0	1	1	2	1	3	1	3	4	0	4	1	4	0	6	3	rs75750725		C3N-00959_TP	C3N-00959_NB	C	C																c.448G>T	p.Gly150Cys	p.G150C	ENST00000396172	5/11	91	86	5	135	133	2	varscan-mutect	DDX39B,missense_variant,p.Gly150Cys,ENST00000396172,NM_004640.6;DDX39B,missense_variant,p.Gly150Cys,ENST00000458640,NM_080598.5;DDX39B,missense_variant,p.Gly150Cys,ENST00000376177,;DDX39B,missense_variant,p.Gly150Cys,ENST00000427214,;DDX39B,missense_variant,p.Gly150Cys,ENST00000456662,;DDX39B,missense_variant,p.Gly150Cys,ENST00000419338,;DDX39B,missense_variant,p.Gly72Cys,ENST00000431908,;DDX39B,missense_variant,p.Gly150Cys,ENST00000428098,;DDX39B,missense_variant,p.Gly178Cys,ENST00000428450,;DDX39B,missense_variant,p.Gly173Cys,ENST00000449757,;DDX39B,downstream_gene_variant,,ENST00000456976,;DDX39B,downstream_gene_variant,,ENST00000418897,;DDX39B,downstream_gene_variant,,ENST00000419020,;DDX39B,upstream_gene_variant,,ENST00000417023,;SNORD84,downstream_gene_variant,,ENST00000584275,;SNORD117,upstream_gene_variant,,ENST00000364915,;ATP6V1G2-DDX39B,3_prime_UTR_variant,,ENST00000376185,;DDX39B,non_coding_transcript_exon_variant,,ENST00000481456,;DDX39B,non_coding_transcript_exon_variant,,ENST00000462256,;DDX39B,non_coding_transcript_exon_variant,,ENST00000482195,;DDX39B,upstream_gene_variant,,ENST00000474961,;DDX39B,upstream_gene_variant,,ENST00000484566,;ATP6V1G2-DDX39B,downstream_gene_variant,,ENST00000480131,;DDX39B,upstream_gene_variant,,ENST00000478365,;	A	ENST00000396172	Transcript	missense_variant	1079/2133	448/1287	150/428	G/C	Ggt/Tgt	rs75750725,COSM4781942	1		-1	DDX39B	HGNC	HGNC:13917	protein_coding	YES	CCDS4697.1	ENSP00000379475	Q13838	A0A024RCM3	UPI0000001D0B	NM_004640.6	deleterious(0.01)		5/11		Gene3D:3.40.50.300,Pfam_domain:PF00270,PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF204,SMART_domains:SM00487,Superfamily_domains:SSF52540											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs75750725	.												A	3	1	66	31536668	31536668	C	A	1	0	0	0	0	1	0	0	0	4160	594	21	2		2	DDX39B	6	31536668	Missense_Mutation	SNP	C	C3N-00959_TP		31536668	139269311	15	21552											
UNC5CL	0	.	GRCh38	chr6	41031708	41031708	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtgtgcatggtgacaatGatctcattggttagtgctga	10	13	13	5	0	1	3	1	3	1	0	2	3	1	3	0	3	2	3	0	3	3	2	novel		C3N-00959_TP	C3N-00959_NB	G	G																c.1092C>T	p.=	p.I364I	ENST00000244565	6/9	149	124	25	232	232	0	strelka-varscan-mutect	UNC5CL,synonymous_variant,p.=,ENST00000244565,NM_173561.2;UNC5CL,synonymous_variant,p.=,ENST00000373164,;UNC5CL,intron_variant,,ENST00000470102,;OARD1,downstream_gene_variant,,ENST00000482853,;	A	ENST00000244565	Transcript	synonymous_variant	1209/3136	1092/1557	364/518	I	atC/atT		1		-1	UNC5CL	HGNC	HGNC:21203	protein_coding	YES	CCDS4847.1	ENSP00000244565	Q8IV45	H8YHX0	UPI00001609DB	NM_173561.2			6/9		hmmpanther:PTHR12582																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	66	41031708	41031708	G	A	1	0	0	0	0	0	0	0	1	17518	1280	45	3		3	UNC5CL	6	41031708	Silent	SNP	G	C3N-00959_TP	9495040	41031708	129774271	16	21553											
ZNF800	0	.	GRCh38	chr7	127386088	127386090	+	In_Frame_Del	DEL	AAT	AAT	-																															aagcactcaattatttgttgAataccagatttggatgtctg																								novel		C3N-00959_TP	C3N-00959_NB	AAT	AAT																c.127_129delATT	p.Ile43del	p.I43del	ENST00000393313	3/6	124	101	23	153	153	0	sindel-varindel-pindel	ZNF800,inframe_deletion,p.Ile43del,ENST00000393313,;ZNF800,inframe_deletion,p.Ile43del,ENST00000265827,NM_176814.4;ZNF800,inframe_deletion,p.Ile43del,ENST00000393312,;ZNF800,inframe_deletion,p.Ile43del,ENST00000619291,;ZNF800,inframe_deletion,p.Ile43del,ENST00000434602,;ZNF800,inframe_deletion,p.Ile43del,ENST00000436992,;ZNF800,inframe_deletion,p.Ile43del,ENST00000439506,;	-	ENST00000393313	Transcript	inframe_deletion	719-721/4358	127-129/1995	43/664	I/-	ATT/-		1		-1	ZNF800	HGNC	HGNC:27267	protein_coding	YES	CCDS5795.1	ENSP00000376989	Q2TB10		UPI000020FA03				3/6		hmmpanther:PTHR21020																	MODERATE	1	deletion	5			1										PASS		.	.												-	7	5	66	127386088	127386088	AAT	-	1	0	1	0	1	0	0	0	0	18754	242	9	0		0	ZNF800	7	127386088	In_Frame_Del	DEL	AAT	C3N-00959_TP		127386088	31959885	17	21554											
COL22A1	0	.	GRCh38	chr8	138607943	138607943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaagagaactcacaggggttCctgaagggccaggctctcct	11	7	12	11	0	2	2	1	1	1	1	4	3	3	2	3	4	1	2	3	4	3	1			C3N-00959_TP	C3N-00959_NB	C	C																c.4025G>A	p.Gly1342Glu	p.G1342E	ENST00000303045	57/65	140	116	24	172	172	0	strelka-varscan-mutect	COL22A1,missense_variant,p.Gly1342Glu,ENST00000303045,NM_152888.2;COL22A1,missense_variant,p.Gly1035Glu,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;COL22A1,non_coding_transcript_exon_variant,,ENST00000487854,;	T	ENST00000303045	Transcript	missense_variant	4472/6346	4025/4881	1342/1626	G/E	gGa/gAa	COSM1096550	1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2	deleterious(0)		57/65		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,Pfam_domain:PF01391											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	66	138607943	138607943	C	T	1	0	0	0	0	1	0	0	0	3469	855	30	3		3	COL22A1	8	138607943	Missense_Mutation	SNP	C	C3N-00959_TP		138607943	6530693	18	21555											
BNC2	0	.	GRCh38	chr9	16435571	16435571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacctgtctcggcttcggcGagaggggaatgcagcattgc	7	9	15	10	3	1	2	0	1	1	1	3	4	1	3	1	4	3	3	1	4	1	2	novel		C3N-00959_TP	C3N-00959_NB	G	G																c.2623C>T	p.Arg875Cys	p.R875C	ENST00000380672	6/7	305	278	27	398	398	0	strelka-varscan-mutect	BNC2,missense_variant,p.Arg875Cys,ENST00000380672,NM_001317940.1,NM_017637.5;BNC2,missense_variant,p.Arg701Cys,ENST00000545497,;BNC2,missense_variant,p.Arg832Cys,ENST00000418777,;BNC2,missense_variant,p.Arg808Cys,ENST00000380667,;BNC2,missense_variant,p.Arg268Cys,ENST00000411752,;BNC2,downstream_gene_variant,,ENST00000380666,;BNC2,downstream_gene_variant,,ENST00000603713,;BNC2,missense_variant,p.Arg875Cys,ENST00000484726,;	A	ENST00000380672	Transcript	missense_variant	2681/12844	2623/3300	875/1099	R/C	Cgc/Tgc		1		-1	BNC2	HGNC	HGNC:30988	protein_coding	YES	CCDS6482.2	ENSP00000370047	Q6ZN30		UPI000035E7B0	NM_001317940.1,NM_017637.5	deleterious(0)		6/7		hmmpanther:PTHR15021:SF2,hmmpanther:PTHR15021,SMART_domains:SM00355																	MODERATE	1	SNV	2			1										PASS		rs1290133928	.												A	3	1	66	16435571	16435571	G	A	1	0	0	0	0	1	0	0	0	1631	1058	37	1		1	BNC2	9	16435571	Missense_Mutation	SNP	G	C3N-00959_TP		16435571	121959146	19	21556											
OLFM1	0	.	GRCh38	chr9	135119534	135119534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacggctatcacaacaacCgcttcgtacgtgagtacaag	12	8	10	11	4	1	1	1	1	0	0	2	2	1	2	1	2	4	4	1	2	6	4	rs747137531		C3N-00959_TP	C3N-00959_NB	C	C																c.814C>T	p.Arg272Cys	p.R272C	ENST00000371793	6/6	57	49	8	83	83	0	strelka-varscan-mutect	OLFM1,missense_variant,p.Arg254Cys,ENST00000252854,NM_014279.4;OLFM1,missense_variant,p.Arg245Cys,ENST00000371796,NM_001282612.1;OLFM1,missense_variant,p.Arg272Cys,ENST00000371793,NM_001282611.1;OLFM1,missense_variant,p.Arg169Cys,ENST00000539877,;OLFM1,missense_variant,p.Pro96Leu,ENST00000545657,;OLFM1,non_coding_transcript_exon_variant,,ENST00000483042,;	T	ENST00000371793	Transcript	missense_variant	1065/2444	814/1458	272/485	R/C	Cgc/Tgc	rs747137531,COSM4933017	1		1	OLFM1	HGNC	HGNC:17187	protein_coding	YES	CCDS65184.1	ENSP00000360858	Q99784		UPI000013DB05	NM_001282611.1	deleterious(0)		6/6		PROSITE_profiles:PS51132,hmmpanther:PTHR23192:SF34,hmmpanther:PTHR23192,Pfam_domain:PF02191,SMART_domains:SM00284											0,1						MODERATE	1	SNV	3		0,1	1										PASS		rs747137531	.												T	3	4	66	135119534	135119534	C	T	1	0	0	0	0	1	0	0	0	10927	652	23	1		1	OLFM1	9	135119534	Missense_Mutation	SNP	C	C3N-00959_TP	118683963	135119534	3275183	20	21557											
ROBO3	0	.	GRCh38	chr11	124880559	124880559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggccggagccggagtcGgagtcagagccggagccaga	8	3	17	13	4	1	2	1	0	0	2	2	6	1	6	5	5	3	0	5	5	0	0	rs200255001		C3N-00959_TP	C3N-00959_NB	G	G																c.4100G>A	p.Arg1367Gln	p.R1367Q	ENST00000397801	27/28	84	76	8	99	99	0	varscan-mutect	ROBO3,missense_variant,p.Arg1367Gln,ENST00000397801,NM_022370.3;ROBO3,missense_variant,p.Arg1345Gln,ENST00000538940,;ROBO3,missense_variant,p.Arg130Gln,ENST00000543966,;ROBO4,downstream_gene_variant,,ENST00000306534,NM_019055.5;ROBO4,downstream_gene_variant,,ENST00000533054,NM_001301088.1;RP11-664I21.5,upstream_gene_variant,,ENST00000524453,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525482,;ROBO3,downstream_gene_variant,,ENST00000528820,;ROBO3,downstream_gene_variant,,ENST00000528144,;ROBO3,downstream_gene_variant,,ENST00000531075,;ROBO3,downstream_gene_variant,,ENST00000526551,;ROBO3,downstream_gene_variant,,ENST00000532472,;ROBO3,downstream_gene_variant,,ENST00000531545,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527245,;ROBO3,non_coding_transcript_exon_variant,,ENST00000529658,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525448,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527196,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525304,;ROBO4,downstream_gene_variant,,ENST00000534407,;ROBO3,downstream_gene_variant,,ENST00000534598,;ROBO3,downstream_gene_variant,,ENST00000524971,;ROBO3,downstream_gene_variant,,ENST00000528068,;ROBO3,downstream_gene_variant,,ENST00000531888,;ROBO3,downstream_gene_variant,,ENST00000530647,;ROBO3,downstream_gene_variant,,ENST00000531119,;	A	ENST00000397801	Transcript	missense_variant	4292/4569	4100/4161	1367/1386	R/Q	cGg/cAg	rs200255001	1		1	ROBO3	HGNC	HGNC:13433	protein_coding	YES	CCDS44755.1	ENSP00000380903	Q96MS0		UPI000035AA82	NM_022370.3	deleterious_low_confidence(0.02)		27/28		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs200255001	.												A	3	1	66	124880559	124880559	G	A	1	0	0	0	0	1	0	0	0	13693	1116	39	1		1	ROBO3	11	124880559	Missense_Mutation	SNP	G	C3N-00959_TP		124880559	10206063	21	21558											
OLR1	0	.	GRCh38	chr12	10160397	10160397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagagccatgggtagctgggGttcctccgagacagccccat	8	7	13	13	1	0	2	0	0	0	2	2	3	2	2	5	3	3	3	5	3	1	2	novel		C3N-00959_TP	C3N-00959_NB	G	G																c.630C>A	p.Asn210Lys	p.N210K	ENST00000309539	5/6	194	158	36	248	248	0	strelka-varscan-mutect	OLR1,missense_variant,p.Asn210Lys,ENST00000309539,NM_002543.3;OLR1,missense_variant,p.Pro164Thr,ENST00000432556,NM_001172632.1;OLR1,missense_variant,p.Pro60Thr,ENST00000543993,;OLR1,missense_variant,p.Asn157Lys,ENST00000539518,;OLR1,missense_variant,p.Asn106Lys,ENST00000538745,;OLR1,intron_variant,,ENST00000545927,NM_001172633.1;OLR1,intron_variant,,ENST00000544577,;OLR1,downstream_gene_variant,,ENST00000339968,;OLR1,downstream_gene_variant,,ENST00000538873,;OLR1,downstream_gene_variant,,ENST00000543414,;OLR1,non_coding_transcript_exon_variant,,ENST00000536989,;	T	ENST00000309539	Transcript	missense_variant	691/2462	630/822	210/273	N/K	aaC/aaA		1		-1	OLR1	HGNC	HGNC:8133	protein_coding	YES	CCDS8618.1	ENSP00000309124	P78380	A0A024RAU0	UPI000004A917	NM_002543.3	tolerated(1)		5/6		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF146,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	66	10160397	10160397	G	T	1	0	0	0	0	1	0	0	0	10938	1261	44	2		2	OLR1	12	10160397	Missense_Mutation	SNP	G	C3N-00959_TP		10160397	123114912	22	21559											
KRAS	0	.	GRCh38	chr12	25245350	25245350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		C3N-00959_TP	C3N-00959_NB	C	C																c.35G>T	p.Gly12Val	p.G12V	ENST00000256078	2/6	295	246	49	337	337	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Val,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Val,ENST00000556131,;KRAS,missense_variant,p.Gly12Val,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Val,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	99/1119	35/570	12/189	G/V	gGt/gTt	rs121913529,CM087372,COSM1135366,COSM1140133,COSM1140134,COSM12657,COSM49168,COSM520,COSM521,COSM522	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,0,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1,1,1	1										PASS		rs121913529	.												A	3	1	66	25245350	25245350	C	A	1	0	0	0	0	1	0	0	0	8318	507	18	2		2	KRAS	12	25245350	Missense_Mutation	SNP	C	C3N-00959_TP	15084953	25245350	108029959	23	21560											
LTBP2	0	.	GRCh38	chr14	74532493	74532493	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacaggtagctgcccctGgtattcacacactccgcgtc	7	9	10	15	2	1	0	1	0	0	0	3	0	2	0	3	2	3	4	3	2	2	3	novel		C3N-00959_TP	C3N-00959_NB	G	G																c.1920C>A	p.=	p.T640T	ENST00000261978	10/36	558	465	93	656	656	0	strelka-varscan-mutect	LTBP2,synonymous_variant,p.=,ENST00000261978,NM_000428.2;LTBP2,synonymous_variant,p.=,ENST00000556690,;LTBP2,downstream_gene_variant,,ENST00000557425,;LTBP2,synonymous_variant,p.=,ENST00000553939,;	T	ENST00000261978	Transcript	synonymous_variant	2307/8567	1920/5466	640/1821	T	acC/acA		1		-1	LTBP2	HGNC	HGNC:6715	protein_coding	YES	CCDS9831.1	ENSP00000261978	Q14767		UPI000013D239	NM_000428.2			10/36		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF49,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	LOW	1	SNV	1			1										PASS		rs1276655725	.												T	2	4	66	74532493	74532493	G	T	1	0	0	0	0	0	0	0	1	8980	1335	47	2		2	LTBP2	14	74532493	Silent	SNP	G	C3N-00959_TP		74532493	32511225	24	21561											
CDAN1	0	.	GRCh38	chr15	42730692	42730692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaaactccaccagccaggGcacggtgagcaccgcccggc	10	2	13	16	3	0	2	0	1	0	1	1	3	1	2	5	3	3	2	5	3	1	0	novel		C3N-00959_TP	C3N-00959_NB	G	G																c.2080C>T	p.Pro694Ser	p.P694S	ENST00000356231	14/28	268	235	33	364	364	0	strelka-varscan-mutect	CDAN1,missense_variant,p.Pro694Ser,ENST00000356231,NM_138477.2;CTD-2036P10.6,downstream_gene_variant,,ENST00000617465,;CDAN1,missense_variant,p.Pro25Ser,ENST00000562465,;	A	ENST00000356231	Transcript	missense_variant	2104/4637	2080/3684	694/1227	P/S	Ccc/Tcc		1		-1	CDAN1	HGNC	HGNC:1713	protein_coding	YES	CCDS32209.1	ENSP00000348564	Q8IWY9		UPI0000229BCB	NM_138477.2	deleterious(0)		14/28		hmmpanther:PTHR28678																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	66	42730692	42730692	G	A	1	0	0	0	0	1	0	0	0	2757	1203	42	3		3	CDAN1	15	42730692	Missense_Mutation	SNP	G	C3N-00959_TP		42730692	59260497	25	21562											
ALOX12B	0	.	GRCh38	chr17	8080705	8080705	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtcttgaggaaggagtaGcggagatttaagttcaggaa	12	9	15	5	2	2	2	1	1	1	1	2	6	2	5	1	4	1	2	1	4	4	5	rs763119821		C3N-00959_TP	C3N-00959_NB	G	G																c.603C>T	p.=	p.R201R	ENST00000319144	5/15	339	273	66	458	458	0	strelka-varscan-mutect	ALOX12B,synonymous_variant,p.=,ENST00000319144,NM_001139.2;AC129492.6,non_coding_transcript_exon_variant,,ENST00000399413,;ALOX12B,upstream_gene_variant,,ENST00000577351,;ALOX12B,upstream_gene_variant,,ENST00000583276,;ALOX12B,upstream_gene_variant,,ENST00000584116,;	A	ENST00000319144	Transcript	synonymous_variant	864/2502	603/2106	201/701	R	cgC/cgT	rs763119821	1		-1	ALOX12B	HGNC	HGNC:430	protein_coding	YES	CCDS11129.1	ENSP00000315167	O75342		UPI000000D996	NM_001139.2			5/15		PROSITE_profiles:PS51393,hmmpanther:PTHR11771,hmmpanther:PTHR11771:SF40,Superfamily_domains:SSF48484																	LOW	1	SNV	1			1										PASS		rs763119821	.												A	2	1	66	8080705	8080705	G	A	1	0	0	0	0	0	0	0	1	637	958	34	3		3	ALOX12B	17	8080705	Silent	SNP	G	C3N-00959_TP		8080705	75176736	26	21563											
ERBB2	0	.	GRCh38	chr17	39716353	39716353	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgagggcactgctggggTccagggcccacccagtgtgt	5	6	16	14	1	0	0	0	0	0	0	1	1	1	0	4	4	1	2	4	4	0	0	novel		C3N-00959_TP	C3N-00959_NB	T	T																c.1566T>G	p.=	p.G522G	ENST00000269571	13/27	36	24	12	86	86	0	strelka-varscan-mutect	ERBB2,synonymous_variant,p.=,ENST00000584601,NM_001005862.2;ERBB2,synonymous_variant,p.=,ENST00000406381,;ERBB2,synonymous_variant,p.=,ENST00000269571,NM_004448.3;ERBB2,synonymous_variant,p.=,ENST00000541774,NM_001289936.1;ERBB2,synonymous_variant,p.=,ENST00000584450,NM_001289937.1;ERBB2,synonymous_variant,p.=,ENST00000445658,;ERBB2,synonymous_variant,p.=,ENST00000578199,NM_001289938.1;ERBB2,upstream_gene_variant,,ENST00000580074,;ERBB2,upstream_gene_variant,,ENST00000582818,;ERBB2,downstream_gene_variant,,ENST00000578502,;ERBB2,3_prime_UTR_variant,,ENST00000578373,;ERBB2,non_coding_transcript_exon_variant,,ENST00000583038,;ERBB2,non_coding_transcript_exon_variant,,ENST00000582788,;ERBB2,downstream_gene_variant,,ENST00000584908,;ERBB2,downstream_gene_variant,,ENST00000582648,;ERBB2,upstream_gene_variant,,ENST00000578630,;ERBB2,upstream_gene_variant,,ENST00000584684,;	G	ENST00000269571	Transcript	synonymous_variant	1725/4545	1566/3768	522/1255	G	ggT/ggG		1		1	ERBB2	HGNC	HGNC:3430	protein_coding	YES	CCDS32642.1	ENSP00000269571	P04626	X5DNK3	UPI000003F55F	NM_004448.3			13/27		hmmpanther:PTHR24416:SF137,hmmpanther:PTHR24416,Gene3D:2.10.220.10,Pfam_domain:PF14843,PIRSF_domain:PIRSF000619,SMART_domains:SM00261,Superfamily_domains:SSF57184,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	66	39716353	39716353	T	G	1	0	0	0	0	0	0	0	1	5055	1654	58	5		5	ERBB2	17	39716353	Silent	SNP	T	C3N-00959_TP	31635648	39716353	43541088	27	21564											
CCBE1	0	.	GRCh38	chr18	59466792	59466792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcttcccatcatcttccCggatgtagccttcccggcac	6	12	7	16	2	3	0	1	0	2	0	6	1	6	1	4	2	1	2	4	2	1	4	rs368065685		C3N-00959_TP	C3N-00959_NB	C	C																c.500G>A	p.Arg167Gln	p.R167Q	ENST00000439986	5/11	406	344	62	464	463	1	strelka-varscan-mutect	CCBE1,missense_variant,p.Arg167Gln,ENST00000439986,NM_133459.3;CCBE1,missense_variant,p.Arg97Gln,ENST00000398179,;CCBE1,5_prime_UTR_variant,,ENST00000589419,;RP11-27G24.3,downstream_gene_variant,,ENST00000589242,;	T	ENST00000439986	Transcript	missense_variant	538/6227	500/1221	167/406	R/Q	cGg/cAg	rs368065685,COSM1389378,COSM5281125	1		-1	CCBE1	HGNC	HGNC:29426	protein_coding	YES	CCDS32838.1	ENSP00000404464	Q6UXH8		UPI000004C616	NM_133459.3	tolerated(0.23)		5/11		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24034,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs368065685	.												T	3	4	66	59466792	59466792	C	T	1	0	0	0	0	1	0	0	0	2433	652	23	1		1	CCBE1	18	59466792	Missense_Mutation	SNP	C	C3N-00959_TP		59466792	20906493	28	21565											
LRP3	0	.	GRCh38	chr19	33205593	33205593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagacctgttcggcgccgctCgcgggccctcagaccttcac	5	7	11	18	5	2	2	2	0	0	2	4	2	2	2	4	2	0	2	4	2	0	2	novel		C3N-00959_TP	C3N-00959_NB	C	C																c.823C>T	p.Arg275Cys	p.R275C	ENST00000253193	5/7	119	94	25	151	151	0	strelka-varscan-mutect	LRP3,missense_variant,p.Arg275Cys,ENST00000253193,NM_002333.3;SLC7A10,downstream_gene_variant,,ENST00000253188,NM_019849.2;LRP3,downstream_gene_variant,,ENST00000592484,;CTD-2540B15.13,upstream_gene_variant,,ENST00000609744,;LRP3,non_coding_transcript_exon_variant,,ENST00000590278,;SLC7A10,downstream_gene_variant,,ENST00000590036,;SLC7A10,downstream_gene_variant,,ENST00000590490,;LRP3,downstream_gene_variant,,ENST00000590275,;	T	ENST00000253193	Transcript	missense_variant	1025/3807	823/2313	275/770	R/C	Cgc/Tgc		1		1	LRP3	HGNC	HGNC:6695	protein_coding	YES	CCDS12430.1	ENSP00000253193	O75074		UPI0000047A9C	NM_002333.3	tolerated(0.05)		5/7		PROSITE_profiles:PS01180,hmmpanther:PTHR10529:SF226,hmmpanther:PTHR10529,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		rs1457666753	.												T	3	4	66	33205593	33205593	C	T	1	0	0	0	0	1	0	0	0	8853	884	31	1		1	LRP3	19	33205593	Missense_Mutation	SNP	C	C3N-00959_TP		33205593	25412023	29	21566											
RYR1	0	.	GRCh38	chr19	38525407	38525407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcagacgtcactgatcGtggccacactgaagaagatg	11	8	12	10	2	1	5	1	2	0	3	2	5	1	5	1	1	1	1	1	1	2	0	rs376389988		C3N-00959_TP	C3N-00959_NB	G	G																c.10531G>A	p.Val3511Met	p.V3511M	ENST00000359596	71/106	520	420	100	574	574	0	strelka-varscan-mutect	RYR1,missense_variant,p.Val3506Met,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Val3511Met,ENST00000359596,NM_000540.2;RYR1,missense_variant,p.Val447Met,ENST00000599547,;RYR1,upstream_gene_variant,,ENST00000601514,;AC067969.1,downstream_gene_variant,,ENST00000597015,;RYR1,3_prime_UTR_variant,,ENST00000594335,;RYR1,downstream_gene_variant,,ENST00000600337,;	A	ENST00000359596	Transcript	missense_variant	10531/15117	10531/15117	3511/5038	V/M	Gtg/Atg	rs376389988,COSM314956	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2	deleterious(0)		71/106		hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715											0,1						MODERATE		SNV	5		0,1	1										PASS		rs376389988	.												A	3	1	66	38525407	38525407	G	A	1	0	0	0	0	1	0	0	0	14028	1145	40	1		1	RYR1	19	38525407	Missense_Mutation	SNP	G	C3N-00959_TP	5319814	38525407	20092209	30	21567											
APOBEC3F	0	.	GRCh38	chr22	39045192	39045192	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcaggctgagtcaggcaggGgcccgcgtgaagattatgga	9	7	17	8	2	1	3	1	2	0	1	1	4	1	4	1	5	1	3	1	5	2	1	rs200983508		C3N-00959_TP	C3N-00959_NB	G	G																c.423G>A	p.=	p.G141G	ENST00000308521	3/7	176	167	9	182	181	1	varscan-mutect	APOBEC3F,synonymous_variant,p.=,ENST00000308521,NM_145298.5;APOBEC3G,intron_variant,,ENST00000452957,;APOBEC3F,downstream_gene_variant,,ENST00000381565,NM_001006666.1;APOBEC3F,non_coding_transcript_exon_variant,,ENST00000491387,;APOBEC3F,non_coding_transcript_exon_variant,,ENST00000476513,;	A	ENST00000308521	Transcript	synonymous_variant	780/2694	423/1122	141/373	G	ggG/ggA	rs200983508,COSM580269	1		1	APOBEC3F	HGNC	HGNC:17356	protein_coding	YES	CCDS33648.1	ENSP00000309749	Q8IUX4		UPI000016074C	NM_145298.5			3/7		hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF24,Pfam_domain:PF08210,Superfamily_domains:SSF53927											0,1						LOW	1	SNV	1		0,1	1										PASS		rs200983508	.												A	2	1	66	39045192	39045192	G	A	1	0	0	0	0	0	0	0	1	914	1219	43	3		3	APOBEC3F	22	39045192	Silent	SNP	G	C3N-00959_TP		39045192	11773276	31	21568											
VCX3A	0	.	GRCh38	chrX	6533943	6533943	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctcctgactcagtggttcTtccacctcgctctcctgact	4	14	6	17	1	4	2	1	2	3	0	8	2	5	2	4	1	0	2	4	1	0	2	rs141442978		C3N-00959_TP	C3N-00959_NB	T	T																c.363A>G	p.=	p.E121E	ENST00000381089	3/3	92	86	6	122	121	1	varscan-mutect	VCX3A,splice_region_variant,,ENST00000398729,;VCX3A,synonymous_variant,p.=,ENST00000381089,NM_016379.3;VCX3A,synonymous_variant,p.=,ENST00000612369,;	C	ENST00000381089	Transcript	synonymous_variant	670/995	363/561	121/186	E	gaA/gaG	rs141442978	1		-1	VCX3A	HGNC	HGNC:18159	protein_coding	YES	CCDS35199.1	ENSP00000370479	Q9NNX9		UPI0000138292	NM_016379.3			3/3		Pfam_domain:PF15231,hmmpanther:PTHR15251,hmmpanther:PTHR15251:SF0,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs141442978	.												C	2	2	66	6533943	6533943	T	C	1	0	0	0	0	0	0	0	1	17689	1606	56	5		5	VCX3A	23	6533943	Silent	SNP	T	C3N-00959_TP		6533943	149506952	32	21569											
CAMTA1	0	.	GRCh38	chr1	7732559	7732559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcggaggcggcagcagtgGaggcggcagcgggagcggga	8	1	24	8	5	0	0	0	0	0	0	0	5	0	4	0	8	4	3	0	8	0	0	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.3026G>T	p.Gly1009Val	p.G1009V	ENST00000303635	12/23	98	75	23	129	128	1	strelka-varscan-mutect	CAMTA1,missense_variant,p.Gly1009Val,ENST00000303635,NM_015215.3;CAMTA1,upstream_gene_variant,,ENST00000495233,;	T	ENST00000303635	Transcript	missense_variant	3233/8444	3026/5022	1009/1673	G/V	gGa/gTa		1		1	CAMTA1	HGNC	HGNC:18806	protein_coding	YES	CCDS30576.1	ENSP00000306522	Q9Y6Y1		UPI00001C1D72	NM_015215.3	tolerated(0.13)		12/23		Low_complexity_(Seg):seg,hmmpanther:PTHR23335:SF11,hmmpanther:PTHR23335																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	7732559	7732559	G	T	1	0	0	0	0	1	0	0	0	2306	1174	41	2		2	CAMTA1	1	7732559	Missense_Mutation	SNP	G	C3N-01016_TP		7732559	241223863	1	21570											
PRAMEF11	0	.	GRCh38	chr1	12828765	12828765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcaagctccaggagtctggGtggaatccggatgctcatct	8	9	13	11	2	3	0	1	0	2	0	5	3	5	3	2	4	2	3	2	4	2	0	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.25C>A	p.Pro9Thr	p.P9T	ENST00000619922	2/4	321	253	68	315	313	2	strelka-varscan-mutect	PRAMEF11,missense_variant,p.Pro9Thr,ENST00000619922,NM_001146344.2;	T	ENST00000619922	Transcript	missense_variant	96/1845	25/1437	9/478	P/T	Ccc/Acc		1		-1	PRAMEF11	HGNC	HGNC:14086	protein_coding	YES	CCDS53268.2	ENSP00000480027		A0A087WW85	UPI0003EAF149	NM_001146344.2	deleterious(0.01)		2/4		hmmpanther:PTHR14224:SF19,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	12828765	12828765	G	T	1	0	0	0	0	1	0	0	0	12556	1261	44	2		2	PRAMEF11	1	12828765	Missense_Mutation	SNP	G	C3N-01016_TP	5096206	12828765	236127657	2	21571											
UBR4	0	.	GRCh38	chr1	19179203	19179203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaaggagccactcctagCtgctgcaacagtgtgttctg	11	9	11	10	0	1	0	0	0	1	0	2	2	2	1	2	1	5	4	2	1	4	2	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.2202G>T	p.Gln734His	p.Q734H	ENST00000375254	18/106	71	57	14	69	69	0	strelka-varscan-mutect	UBR4,missense_variant,p.Gln734His,ENST00000375254,NM_020765.2;UBR4,upstream_gene_variant,,ENST00000419533,;	A	ENST00000375254	Transcript	missense_variant	2230/15906	2202/15552	734/5183	Q/H	caG/caT		1		-1	UBR4	HGNC	HGNC:30313	protein_coding	YES	CCDS189.1	ENSP00000364403	Q5T4S7		UPI000021276F	NM_020765.2	tolerated(1)		18/106		hmmpanther:PTHR21725																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	19179203	19179203	C	A	1	0	0	0	0	1	0	0	0	17428	796	28	2		2	UBR4	1	19179203	Missense_Mutation	SNP	C	C3N-01016_TP	6350438	19179203	229777219	3	21572											
EIF4G3	0	.	GRCh38	chr1	20864593	20864593	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacagtcatgcatgatggcTtcagtcagcattttgagttt	10	14	9	8	0	3	2	3	2	0	0	3	2	3	2	0	1	2	4	0	1	0	4	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.2829A>G	p.=	p.E943E	ENST00000400422	20/35	228	178	50	332	332	0	strelka-varscan-mutect	EIF4G3,synonymous_variant,p.=,ENST00000602326,NM_001198802.1;EIF4G3,synonymous_variant,p.=,ENST00000264211,NM_003760.4;EIF4G3,synonymous_variant,p.=,ENST00000400422,NM_001198801.1;EIF4G3,synonymous_variant,p.=,ENST00000374935,;EIF4G3,synonymous_variant,p.=,ENST00000634879,;	C	ENST00000400422	Transcript	synonymous_variant	3410/5762	2829/4866	943/1621	E	gaA/gaG		1		-1	EIF4G3	HGNC	HGNC:3298	protein_coding	YES	CCDS72723.1	ENSP00000383274		A0A0A0MSA7	UPI0000D4C1EC	NM_001198801.1			20/35		Gene3D:1.25.40.180,Pfam_domain:PF02854,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23,SMART_domains:SM00543,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	67	20864593	20864593	T	C	1	0	0	0	0	0	0	0	1	4871	1606	56	5		5	EIF4G3	1	20864593	Silent	SNP	T	C3N-01016_TP	1685390	20864593	228091829	4	21573											
COL16A1	0	.	GRCh38	chr1	31661705	31661705	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggaccagggtccccCtagggaaagagacgaggagg	12	2	16	11	1	0	1	0	0	0	1	1	6	1	4	4	5	1	1	4	5	2	1	rs774492040		C3N-01016_TP	C3N-01016_NB	C	C																c.3682-1G>T		p.X1228_splice	ENST00000373672		124	96	28	155	155	0	strelka-varscan-mutect	COL16A1,splice_acceptor_variant,,ENST00000373672,NM_001856.3;COL16A1,splice_acceptor_variant,,ENST00000440437,;RP11-73M7.6,downstream_gene_variant,,ENST00000610043,;RP11-73M7.6,downstream_gene_variant,,ENST00000591929,;RP11-73M7.6,downstream_gene_variant,,ENST00000585413,;RP11-73M7.6,downstream_gene_variant,,ENST00000609549,;RP11-73M7.6,downstream_gene_variant,,ENST00000609033,;RP11-73M7.6,downstream_gene_variant,,ENST00000589462,;RP11-73M7.6,downstream_gene_variant,,ENST00000609625,;RP11-73M7.6,downstream_gene_variant,,ENST00000607926,;RP11-73M7.6,downstream_gene_variant,,ENST00000623786,;RP11-73M7.6,downstream_gene_variant,,ENST00000587445,;RP11-73M7.6,downstream_gene_variant,,ENST00000585660,;RP11-73M7.6,downstream_gene_variant,,ENST00000610216,;RP11-73M7.6,downstream_gene_variant,,ENST00000623791,;RP11-73M7.6,downstream_gene_variant,,ENST00000609373,;RP11-73M7.6,downstream_gene_variant,,ENST00000608246,;RP11-73M7.6,downstream_gene_variant,,ENST00000593188,;RP11-73M7.6,downstream_gene_variant,,ENST00000623425,;RP11-73M7.6,downstream_gene_variant,,ENST00000608888,;RP11-73M7.6,downstream_gene_variant,,ENST00000624388,;RP11-73M7.6,downstream_gene_variant,,ENST00000608332,;RP11-73M7.6,downstream_gene_variant,,ENST00000591592,;RP11-73M7.6,downstream_gene_variant,,ENST00000609338,;RP11-73M7.6,downstream_gene_variant,,ENST00000588288,;RP11-73M7.6,downstream_gene_variant,,ENST00000445166,;COL16A1,non_coding_transcript_exon_variant,,ENST00000466829,;COL16A1,downstream_gene_variant,,ENST00000468459,;COL16A1,splice_acceptor_variant,,ENST00000488128,;COL16A1,splice_acceptor_variant,,ENST00000488897,;COL16A1,splice_acceptor_variant,,ENST00000470799,;COL16A1,splice_acceptor_variant,,ENST00000482910,;	A	ENST00000373672	Transcript	splice_acceptor_variant	-/5736	3682/4815	1228/1604			rs774492040	1		-1	COL16A1	HGNC	HGNC:2193	protein_coding	YES	CCDS41297.1	ENSP00000362776	Q07092		UPI0000203DD1	NM_001856.3				58/70																		HIGH	1	SNV	5			1										PASS		rs774492040	.												A	5	1	67	31661705	31661705	C	A	1	0	0	0	0	0	0	1	0	3461	695	24	2		2	COL16A1	1	31661705	Splice_Site	SNP	C	C3N-01016_TP	10797112	31661705	217294717	5	21574											
NT5C1A	0	.	GRCh38	chr1	39659252	39659252	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacatctggtcatcaaagaAgatgtgtgggcggatcttct	11	11	12	7	1	5	2	2	0	3	2	5	4	5	3	0	3	1	0	0	3	3	1	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.976T>A	p.Phe326Ile	p.F326I	ENST00000235628	6/6	669	156	513	199	198	1	strelka-varscan-mutect	NT5C1A,missense_variant,p.Phe326Ile,ENST00000235628,NM_032526.2;	T	ENST00000235628	Transcript	missense_variant	976/1107	976/1107	326/368	F/I	Ttc/Atc		1		-1	NT5C1A	HGNC	HGNC:17819	protein_coding	YES	CCDS440.1	ENSP00000235628	Q9BXI3		UPI000004978A	NM_032526.2	deleterious(0)		6/6		Pfam_domain:PF06189,hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	39659252	39659252	A	T	1	0	0	0	0	1	0	0	0	10748	72	3	4		4	NT5C1A	1	39659252	Missense_Mutation	SNP	A	C3N-01016_TP	7997547	39659252	209297170	6	21575											
FAM183A	0	.	GRCh38	chr1	43156224	43156224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatcaacccagaacgccatGaccgcaggctgaatcacttc	13	6	8	14	2	2	4	2	2	0	2	3	4	2	4	3	1	2	2	3	1	3	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.316G>A	p.Asp106Asn	p.D106N	ENST00000335282	4/4	518	482	36	218	218	0	strelka-varscan-mutect	FAM183A,missense_variant,p.Asp78Asn,ENST00000410048,;FAM183A,missense_variant,p.Asp106Asn,ENST00000335282,NM_001101376.2;FAM183A,missense_variant,p.Asp122Asn,ENST00000409396,;FAM183A,non_coding_transcript_exon_variant,,ENST00000409337,;FAM183A,3_prime_UTR_variant,,ENST00000410025,;FAM183A,non_coding_transcript_exon_variant,,ENST00000481753,;	A	ENST00000335282	Transcript	missense_variant	316/488	316/405	106/134	D/N	Gac/Aac		1		1	FAM183A	HGNC	HGNC:34347	protein_coding	YES	CCDS44126.1	ENSP00000334415	A6NL82		UPI00015D7728	NM_001101376.2	deleterious(0)		4/4		Pfam_domain:PF14886,hmmpanther:PTHR33865,hmmpanther:PTHR33865:SF2																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	67	43156224	43156224	G	A	1	0	0	0	0	1	0	0	0	5357	1290	45	3		3	FAM183A	1	43156224	Missense_Mutation	SNP	G	C3N-01016_TP	3496972	43156224	205800198	7	21576											
MROH7	0	.	GRCh38	chr1	54653231	54653231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatcaccagttcttgttctgGtgaagccctggacctggatt	7	13	11	10	0	3	1	1	1	2	0	3	4	3	3	3	3	1	2	3	3	1	4	rs751192948		C3N-01016_TP	C3N-01016_NB	G	G																c.305G>T	p.Gly102Val	p.G102V	ENST00000421030	3/24	320	177	143	252	252	0	strelka-varscan-mutect	MROH7,missense_variant,p.Gly102Val,ENST00000421030,NM_001039464.3;MROH7,missense_variant,p.Gly102Val,ENST00000339553,;MROH7,missense_variant,p.Gly102Val,ENST00000395690,;MROH7,intron_variant,,ENST00000409996,NM_001291332.1;MROH7,non_coding_transcript_exon_variant,,ENST00000472987,;MROH7,intron_variant,,ENST00000478097,;MROH7-TTC4,missense_variant,p.Gly102Val,ENST00000425300,;MROH7-TTC4,missense_variant,p.Gly102Val,ENST00000414150,;MROH7-TTC4,missense_variant,p.Gly102Val,ENST00000606515,;MROH7,missense_variant,p.Gly102Val,ENST00000413188,;MROH7,missense_variant,p.Gly102Val,ENST00000422659,;MROH7,missense_variant,p.Gly102Val,ENST00000440047,;MROH7,missense_variant,p.Gly102Val,ENST00000438846,;MROH7,upstream_gene_variant,,ENST00000440217,;	T	ENST00000421030	Transcript	missense_variant	590/4329	305/3972	102/1323	G/V	gGt/gTt	rs751192948	1		1	MROH7	HGNC	HGNC:24802	protein_coding	YES	CCDS41342.2	ENSP00000396622	Q68CQ1		UPI000198C4E2	NM_001039464.3	tolerated_low_confidence(0.43)		3/24																			MODERATE	1	SNV	2			1										PASS		rs751192948	.												T	3	4	67	54653231	54653231	G	T	1	0	0	0	0	1	0	0	0	9747	1261	44	2		2	MROH7	1	54653231	Missense_Mutation	SNP	G	C3N-01016_TP	11497007	54653231	194303191	8	21577											
USP1	0	.	GRCh38	chr1	62445253	62445253	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctaaattttgtagtcTgggaaaaataacaacaaacc	16	13	5	7	0	3	0	0	0	3	0	3	1	3	1	1	1	3	1	1	1	8	6	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.1073T>G	p.Leu358Arg	p.L358R	ENST00000339950	6/9	112	39	73	54	54	0	strelka-varscan-mutect	USP1,missense_variant,p.Leu358Arg,ENST00000339950,NM_003368.4;USP1,missense_variant,p.Leu358Arg,ENST00000371146,NM_001017415.1,NM_001017416.1;USP1,downstream_gene_variant,,ENST00000452143,;USP1,downstream_gene_variant,,ENST00000442679,;	G	ENST00000339950	Transcript	missense_variant	1888/3996	1073/2358	358/785	L/R	cTg/cGg		1		1	USP1	HGNC	HGNC:12607	protein_coding	YES	CCDS621.1	ENSP00000343526	O94782		UPI00001379D4	NM_003368.4	deleterious(0)		6/9		Pfam_domain:PF00443,PROSITE_profiles:PS50235																	MODERATE	1	SNV	1			1										PASS		rs35765018	.												G	3	3	67	62445253	62445253	T	G	1	0	0	0	0	1	0	0	0	17574	1580	55	5		5	USP1	1	62445253	Missense_Mutation	SNP	T	C3N-01016_TP	7792022	62445253	186511169	9	21578											
SGIP1	0	.	GRCh38	chr1	66733841	66733841	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagtgtctgaacaaaaaccCcaggctacatattataacgt	17	9	6	9	1	1	1	0	1	1	0	1	1	1	1	2	1	4	1	2	1	8	4			C3N-01016_TP	C3N-01016_NB	C	C																c.1992C>A	p.=	p.P664P	ENST00000371037	21/25	84	69	15	84	84	0	strelka-varscan-mutect	SGIP1,synonymous_variant,p.=,ENST00000371037,NM_032291.2;SGIP1,synonymous_variant,p.=,ENST00000371039,NM_001308203.1;SGIP1,synonymous_variant,p.=,ENST00000237247,;SGIP1,synonymous_variant,p.=,ENST00000435165,;	A	ENST00000371037	Transcript	synonymous_variant	2069/7768	1992/2487	664/828	P	ccC/ccA	COSM1646189,COSM682346,COSM682347	1		1	SGIP1	HGNC	HGNC:25412	protein_coding	YES	CCDS30744.1	ENSP00000360076	Q9BQI5		UPI000045891B	NM_032291.2			21/25		Pfam_domain:PF10291,PROSITE_profiles:PS51072,hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF8											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												A	2	1	67	66733841	66733841	C	A	1	0	0	0	0	0	0	0	1	14466	610	22	2		2	SGIP1	1	66733841	Silent	SNP	C	C3N-01016_TP	4288588	66733841	182222581	10	21579											
LRRC7	0	.	GRCh38	chr1	70053101	70053101	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtggccaatggaatccttatCcacttgggaggcgggatgta	9	10	14	8	1	0	0	0	0	0	0	2	3	2	3	3	5	0	1	3	5	4	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.4072C>G	p.Pro1358Ala	p.P1358A	ENST00000035383	21/25	126	107	19	149	149	0	strelka-varscan-mutect	LRRC7,missense_variant,p.Pro1316Ala,ENST00000310961,;LRRC7,missense_variant,p.Pro1358Ala,ENST00000035383,NM_020794.2;LRRC7,missense_variant,p.Pro642Ala,ENST00000415775,;	G	ENST00000035383	Transcript	missense_variant	4102/5000	4072/4614	1358/1537	P/A	Cca/Gca		1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2	deleterious(0.05)		21/25																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	67	70053101	70053101	C	G	1	0	0	0	0	1	0	0	0	8916	855	30	4		4	LRRC7	1	70053101	Missense_Mutation	SNP	C	C3N-01016_TP	3319260	70053101	178903321	11	21580											
HFM1	0	.	GRCh38	chr1	91378146	91378146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgctaactacaacttcaAgagttggaccacgattttca	12	13	6	10	1	3	1	2	0	1	1	3	3	3	2	1	1	4	2	1	1	4	7	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.1274T>C	p.Leu425Pro	p.L425P	ENST00000370425	11/39	171	92	79	123	123	0	strelka-varscan-mutect	HFM1,missense_variant,p.Leu425Pro,ENST00000370425,NM_001017975.4;HFM1,downstream_gene_variant,,ENST00000448819,;HFM1,non_coding_transcript_exon_variant,,ENST00000481900,;HFM1,non_coding_transcript_exon_variant,,ENST00000488023,;	G	ENST00000370425	Transcript	missense_variant	1373/4931	1274/4308	425/1435	L/P	cTt/cCt		1		-1	HFM1	HGNC	HGNC:20193	protein_coding	YES	CCDS30769.2	ENSP00000359454	A2PYH4		UPI0000F51F79	NM_001017975.4	deleterious(0)		11/39		Gene3D:3.40.50.300,Pfam_domain:PF00270,PROSITE_profiles:PS51192,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	67	91378146	91378146	A	G	1	0	0	0	0	1	0	0	0	6967	72	3	5		5	HFM1	1	91378146	Missense_Mutation	SNP	A	C3N-01016_TP	21325045	91378146	157578276	12	21581											
COL11A1	0	.	GRCh38	chr1	102965512	102965512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccaaccactccccctggcCcaggagggccggtcttgcct	5	7	11	18	1	1	0	0	0	1	0	3	1	3	1	7	4	2	0	7	4	1	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.2891G>T	p.Gly964Val	p.G964V	ENST00000370096	38/67	270	216	54	360	360	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Gly976Val,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Gly964Val,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Gly925Val,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Gly848Val,ENST00000512756,NM_080630.3;COL11A1,3_prime_UTR_variant,,ENST00000635193,;COL11A1,upstream_gene_variant,,ENST00000465209,;	A	ENST00000370096	Transcript	missense_variant	3204/7286	2891/5421	964/1806	G/V	gGg/gTg		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0)		38/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	102965512	102965512	C	A	1	0	0	0	0	1	0	0	0	3455	623	22	2		2	COL11A1	1	102965512	Missense_Mutation	SNP	C	C3N-01016_TP	11587366	102965512	145990910	13	21582											
AMPD1	0	.	GRCh38	chr1	114679585	114679585	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaaaatgtttaccttcctGcagttataaaaatctcggtg	13	14	6	8	1	1	0	0	0	1	0	3	0	2	0	2	1	2	3	2	1	7	6	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.990C>A	p.Cys330Ter	p.C330*	ENST00000520113	7/16	338	214	124	346	346	0	strelka-varscan-mutect	AMPD1,stop_gained,p.Cys326Ter,ENST00000369538,NM_001172626.1;AMPD1,stop_gained,p.Cys330Ter,ENST00000520113,NM_000036.2;AMPD1,3_prime_UTR_variant,,ENST00000637080,;AMPD1,downstream_gene_variant,,ENST00000485564,;	T	ENST00000520113	Transcript	stop_gained	1006/2375	990/2343	330/780	C/*	tgC/tgA		1		-1	AMPD1	HGNC	HGNC:468	protein_coding	YES	CCDS876.2	ENSP00000430075	P23109		UPI0000470A27	NM_000036.2			7/16		Gene3D:3.20.20.140,Pfam_domain:PF00962,PIRSF_domain:PIRSF001251,hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF1,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR01429																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	67	114679585	114679585	G	T	1	0	0	0	0	0	1	0	0	683	1311	46	2		2	AMPD1	1	114679585	Nonsense_Mutation	SNP	G	C3N-01016_TP	11714073	114679585	134276837	14	21583											
NBPF15	0	.	GRCh38	chr1	144426319	144426319	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggtactgttcctccaatGagtaaacagcactgctgtag	12	10	9	10	0	0	1	0	1	0	0	2	1	2	1	2	1	4	6	2	1	6	4	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1397C>A	p.Ser466Ter	p.S466*	ENST00000577412	17/21	175	133	42	122	121	1	strelka-varscan-mutect	NBPF15,stop_gained,p.Ser466Ter,ENST00000577412,NM_001170755.2;NBPF15,stop_gained,p.Ser466Ter,ENST00000488031,;NBPF15,stop_gained,p.Ser466Ter,ENST00000581897,NM_173638.4;NBPF15,non_coding_transcript_exon_variant,,ENST00000584793,;	T	ENST00000577412	Transcript	stop_gained	2464/4707	1397/2013	466/670	S/*	tCa/tAa		1		-1	NBPF15	HGNC	HGNC:28791	protein_coding	YES	CCDS72852.1	ENSP00000462600	Q8N660		UPI000013D89F	NM_001170755.2			17/21		Pfam_domain:PF06758,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF20,SMART_domains:SM01148																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	67	144426319	144426319	G	T	1	0	0	0	0	0	1	0	0	10208	1294	45	2		2	NBPF15	1	144426319	Nonsense_Mutation	SNP	G	C3N-01016_TP	29746734	144426319	104530103	15	21584											
FAM72D	0	.	GRCh38	chr1	145103129	145103129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaacagactagactccaCaggtaagaaacaattgactt	17	10	6	8	0	0	4	0	1	0	3	1	4	1	4	1	1	2	1	1	1	6	6	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.353C>A	p.Thr118Lys	p.T118K	ENST00000400889	3/4	79	51	28	51	51	0	strelka-varscan-mutect	FAM72D,missense_variant,p.Thr118Lys,ENST00000400889,NM_207418.2;	A	ENST00000400889	Transcript	missense_variant,splice_region_variant	1201/2397	353/450	118/149	T/K	aCa/aAa		1		1	FAM72D	HGNC	HGNC:33593	protein_coding	YES	CCDS72855.1	ENSP00000383682	Q6L9T8		UPI0000252280	NM_207418.2	tolerated(0.18)		3/4		Pfam_domain:PF14976,hmmpanther:PTHR31841																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	145103129	145103129	C	A	1	0	0	0	0	1	0	0	0	5482	492	17	2		2	FAM72D	1	145103129	Missense_Mutation	SNP	C	C3N-01016_TP	676810	145103129	103853293	16	21585											
SV2A	0	.	GRCh38	chr1	149913707	149913707	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcaaagcgggagtacGatcttcgggaatattcgtcc	9	10	10	12	4	2	0	1	0	1	0	6	3	4	2	3	2	2	1	3	2	4	4	rs782071934		C3N-01016_TP	C3N-01016_NB	G	G																c.134C>A	p.Ser45Ter	p.S45*	ENST00000369146	2/13	255	165	90	198	198	0	strelka-varscan-mutect	SV2A,stop_gained,p.Ser45Ter,ENST00000369146,NM_014849.4;SV2A,stop_gained,p.Ser45Ter,ENST00000369145,;	T	ENST00000369146	Transcript	stop_gained	625/4416	134/2229	45/742	S/*	tCg/tAg	rs782071934,COSM137782	1		-1	SV2A	HGNC	HGNC:20566	protein_coding	YES	CCDS940.1	ENSP00000358142	Q7L0J3		UPI000000DAD2	NM_014849.4			2/13		Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR01299											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs782071934	.												T	4	4	67	149913707	149913707	G	T	1	0	0	0	0	0	1	0	0	15801	1059	37	1		1	SV2A	1	149913707	Nonsense_Mutation	SNP	G	C3N-01016_TP	4810578	149913707	99042715	17	21586											
TUFT1	0	.	GRCh38	chr1	151562122	151562122	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctcaggctgactctccAgggtgaactgacaggagatg	10	9	12	10	0	2	4	1	3	2	1	4	5	2	4	1	3	1	1	1	3	1	1	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.92A>T	p.Gln31Leu	p.Q31L	ENST00000368849	2/13	135	121	14	103	103	0	strelka-varscan-mutect	TUFT1,missense_variant,p.Gln31Leu,ENST00000368849,NM_020127.2,NM_001301317.1;TUFT1,intron_variant,,ENST00000368848,NM_001126337.1;TUFT1,intron_variant,,ENST00000392712,;TUFT1,intron_variant,,ENST00000353024,;RP11-74C1.4,downstream_gene_variant,,ENST00000434112,;TUFT1,non_coding_transcript_exon_variant,,ENST00000498606,;TUFT1,upstream_gene_variant,,ENST00000461859,;TUFT1,upstream_gene_variant,,ENST00000490156,;RP11-74C1.2,downstream_gene_variant,,ENST00000452587,;	T	ENST00000368849	Transcript	missense_variant	154/3111	92/1173	31/390	Q/L	cAg/cTg		1		1	TUFT1	HGNC	HGNC:12422	protein_coding	YES	CCDS1000.1	ENSP00000357842	Q9NNX1		UPI0000037BFA	NM_020127.2,NM_001301317.1	deleterious(0.02)		2/13		hmmpanther:PTHR23171:SF4,hmmpanther:PTHR23171																	MODERATE	1	SNV	1			1										PASS		rs1048610386	.												T	3	4	67	151562122	151562122	A	T	1	0	0	0	0	1	0	0	0	17282	188	7	4		4	TUFT1	1	151562122	Missense_Mutation	SNP	A	C3N-01016_TP	1648415	151562122	97394300	18	21587											
FLG	0	.	GRCh38	chr1	152308041	152308041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcttcgtgatgggacctgGggtgtctggagccatctctt	4	14	14	9	1	3	1	0	1	3	0	5	3	3	3	2	4	1	0	2	4	0	2	rs750002465		C3N-01016_TP	C3N-01016_NB	G	G																c.6845C>A	p.Pro2282His	p.P2282H	ENST00000368799	3/3	1053	780	273	661	658	3	strelka-varscan-mutect	FLG,missense_variant,p.Pro2282His,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368799	Transcript	missense_variant	6881/12747	6845/12186	2282/4061	P/H	cCc/cAc	rs750002465	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	deleterious(0.01)		3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571																	MODERATE	1	SNV	1			1										PASS		rs750002465	.												T	3	4	67	152308041	152308041	G	T	1	0	0	0	0	1	0	0	0	5784	1232	43	2		2	FLG	1	152308041	Missense_Mutation	SNP	G	C3N-01016_TP	745919	152308041	96648381	19	21588											
LCE1A	0	.	GRCh38	chr1	152827514	152827514	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtgccagccccctccCaagtgcacccccaagtgccc	8	4	8	21	0	0	0	0	0	0	0	1	0	1	0	7	0	5	2	7	0	2	0	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.42C>T	p.=	p.P14P	ENST00000335123	1/1	124	72	52	109	109	0	strelka-varscan-mutect	LCE1A,synonymous_variant,p.=,ENST00000335123,NM_178348.2;	T	ENST00000335123	Transcript	synonymous_variant	42/422	42/333	14/110	P	ccC/ccT		1		1	LCE1A	HGNC	HGNC:29459	protein_coding	YES	CCDS1028.1	ENSP00000334869	Q5T7P2		UPI0000192766	NM_178348.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23263,Prints_domain:PR00021																	LOW	1	SNV				1										PASS		.	.												T	2	4	67	152827514	152827514	C	T	1	0	0	0	0	0	0	0	1	8564	581	21	3		3	LCE1A	1	152827514	Silent	SNP	C	C3N-01016_TP	519473	152827514	96128908	20	21589											
LOR	0	.	GRCh38	chr1	153261381	153261383	+	In_Frame_Del	DEL	CTC	CTC	-																															gggggcggctccggctgcttCtcctccggcggcggcggctt																								novel		C3N-01016_TP	C3N-01016_NB	CTC	CTC																c.436_438delTCC	p.Ser146del	p.S146del	ENST00000368742	2/2	218	186	32	159	159	0	sindel-varindel-pindel	LOR,inframe_deletion,p.Ser146del,ENST00000368742,NM_000427.2;	-	ENST00000368742	Transcript	inframe_deletion	489-491/1230	432-434/939	144-145/312	FS/F	ttCTCc/ttc		1		1	LOR	HGNC	HGNC:6663	protein_coding	YES	CCDS30870.1	ENSP00000357731	P23490		UPI0000470BBD	NM_000427.2			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR39228,Pfam_domain:PF15847,Prints_domain:PR01228																	MODERATE	1	deletion	1	4		1										PASS		.	.												-	7	5	67	153261381	153261381	CTC	-	1	0	1	0	1	0	0	0	0	8799	912	32	0		0	LOR	1	153261381	In_Frame_Del	DEL	CTC	C3N-01016_TP	433867	153261381	95695041	21	21590											
TDRD10	0	.	GRCh38	chr1	154544431	154544431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggcggaggagcagcaGccctacctggagggctccac	8	4	15	14	1	1	0	1	0	0	0	2	3	2	3	3	5	4	4	3	5	1	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.711G>A	p.=	p.Q237Q	ENST00000368480	10/12	233	219	14	171	171	0	strelka-mutect	TDRD10,synonymous_variant,p.=,ENST00000368482,NM_182499.3;TDRD10,synonymous_variant,p.=,ENST00000368480,NM_001098475.1;UBE2Q1,downstream_gene_variant,,ENST00000292211,NM_017582.6;TDRD10,non_coding_transcript_exon_variant,,ENST00000479937,;TDRD10,non_coding_transcript_exon_variant,,ENST00000462871,;TDRD10,intron_variant,,ENST00000468714,;	A	ENST00000368480	Transcript	synonymous_variant	796/1776	711/1101	237/366	Q	caG/caA		1		1	TDRD10	HGNC	HGNC:25316	protein_coding	YES	CCDS41406.1	ENSP00000357465	Q5VZ19		UPI0001533DB6	NM_001098475.1			10/12		hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF12,Gene3D:2.30.30.140,Pfam_domain:PF00567,Superfamily_domains:SSF63748																	LOW		SNV	2			1										PASS		.	.												A	2	1	67	154544431	154544431	G	A	1	0	0	0	0	0	0	0	1	16139	962	34	3		3	TDRD10	1	154544431	Silent	SNP	G	C3N-01016_TP	1283050	154544431	94411991	22	21591											
KCNN3	0	.	GRCh38	chr1	154869768	154869768	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgctgctgctgctgctgaAgctgcggaggctgaggctgc	4	9	17	11	1	0	2	0	2	0	0	0	3	0	3	0	3	8	9	0	3	1	0	rs776143138		C3N-01016_TP	C3N-01016_NB	A	A																c.197T>A	p.Leu66His	p.L66H	ENST00000618040	1/9	386	363	23	286	281	5	varscan-mutect	KCNN3,missense_variant,p.Leu66His,ENST00000618040,NM_001204087.1;KCNN3,missense_variant,p.Leu66His,ENST00000271915,NM_002249.5;KCNN3,upstream_gene_variant,,ENST00000358505,;	T	ENST00000618040	Transcript	missense_variant	511/13057	197/2241	66/746	L/H	cTt/cAt	rs776143138	1		-1	KCNN3	HGNC	HGNC:6292	protein_coding	YES	CCDS72928.1	ENSP00000481848		A0A087WYJ0	UPI0001F936D2	NM_001204087.1	deleterious_low_confidence(0.02)		1/9		hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF40,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs776143138	.												T	3	4	67	154869768	154869768	A	T	1	0	0	0	0	1	0	0	0	7996	72	3	4		4	KCNN3	1	154869768	Missense_Mutation	SNP	A	C3N-01016_TP	325337	154869768	94086654	23	21592											
ADAM15	0	.	GRCh38	chr1	155054438	155054438	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccacacctgtgccctgAgctggcgggaatctgtacac	8	7	12	14	1	1	1	0	1	1	0	1	2	1	2	3	3	3	2	3	3	2	1	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.544A>T	p.Ser182Cys	p.S182C	ENST00000356955	6/23	94	66	28	65	65	0	strelka-varscan-mutect	ADAM15,missense_variant,p.Ser182Cys,ENST00000356955,NM_207197.2;ADAM15,missense_variant,p.Ser182Cys,ENST00000449910,NM_207196.2;ADAM15,missense_variant,p.Ser182Cys,ENST00000355956,NM_207194.2;ADAM15,missense_variant,p.Ser182Cys,ENST00000359280,NM_207195.2;ADAM15,missense_variant,p.Ser182Cys,ENST00000368412,NM_001261465.1;ADAM15,missense_variant,p.Ser182Cys,ENST00000271836,NM_003815.4;ADAM15,missense_variant,p.Ser182Cys,ENST00000360674,NM_207191.2;ADAM15,missense_variant,p.Ser192Cys,ENST00000531455,NM_001261464.1;ADAM15,missense_variant,p.Ser166Cys,ENST00000447332,NM_001261466.1;ADAM15,intron_variant,,ENST00000368413,;DCST1,downstream_gene_variant,,ENST00000295542,NM_152494.3;DCST1,downstream_gene_variant,,ENST00000423025,NM_001143687.2;ADAM15,non_coding_transcript_exon_variant,,ENST00000472434,;ADAM15,non_coding_transcript_exon_variant,,ENST00000473905,;ADAM15,non_coding_transcript_exon_variant,,ENST00000487956,;ADAM15,non_coding_transcript_exon_variant,,ENST00000480331,;ADAM15,upstream_gene_variant,,ENST00000461234,;ADAM15,upstream_gene_variant,,ENST00000474709,;ADAM15,downstream_gene_variant,,ENST00000485346,;ADAM15,downstream_gene_variant,,ENST00000531831,;ADAM15,downstream_gene_variant,,ENST00000533732,;ADAM15,downstream_gene_variant,,ENST00000531703,;ADAM15,upstream_gene_variant,,ENST00000462116,;ADAM15,upstream_gene_variant,,ENST00000470779,;ADAM15,downstream_gene_variant,,ENST00000477533,;ADAM15,missense_variant,p.Ser182Cys,ENST00000526491,;ADAM15,missense_variant,p.Ser182Cys,ENST00000529473,;ADAM15,non_coding_transcript_exon_variant,,ENST00000527418,;ADAM15,non_coding_transcript_exon_variant,,ENST00000461564,;ADAM15,upstream_gene_variant,,ENST00000498481,;ADAM15,upstream_gene_variant,,ENST00000534019,;ADAM15,upstream_gene_variant,,ENST00000525020,;	T	ENST00000356955	Transcript	missense_variant	645/2949	544/2592	182/863	S/C	Agc/Tgc		1		1	ADAM15	HGNC	HGNC:193	protein_coding	YES	CCDS1087.1	ENSP00000349436	Q13444		UPI000035CC78	NM_207197.2	deleterious(0.01)		6/23		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF130																	MODERATE	1	SNV	1			1										PASS		rs1253110550	.												T	3	4	67	155054438	155054438	A	T	1	0	0	0	0	1	0	0	0	281	304	11	4		4	ADAM15	1	155054438	Missense_Mutation	SNP	A	C3N-01016_TP	184670	155054438	93901984	24	21593											
INSRR	0	.	GRCh38	chr1	156858588	156858588	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagatcacaggcaggcAtgctccccagggccacagac	12	3	13	13	0	1	2	1	0	0	2	2	4	2	3	3	4	1	3	3	4	1	0	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.34T>A	p.Cys12Ser	p.C12S	ENST00000368195	1/22	307	197	110	293	293	0	strelka-varscan-mutect	INSRR,missense_variant,p.Cys12Ser,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,upstream_gene_variant,,ENST00000368196,NM_001012331.1;NTRK1,upstream_gene_variant,,ENST00000358660,;NTRK1,upstream_gene_variant,,ENST00000524377,NM_002529.3;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,upstream_gene_variant,,ENST00000533630,;	T	ENST00000368195	Transcript	missense_variant	431/5101	34/3894	12/1297	C/S	Tgc/Agc		1		-1	INSRR	HGNC	HGNC:6093	protein_coding	YES	CCDS1160.1	ENSP00000357178	P14616		UPI000012D8BD	NM_014215.2	tolerated(0.32)		1/22		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24416:SF338,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000620																	MODERATE		SNV	2			1										PASS		rs1312207505	.												T	3	4	67	156858588	156858588	A	T	1	0	0	0	0	1	0	0	0	7676	217	8	4		4	INSRR	1	156858588	Missense_Mutation	SNP	A	C3N-01016_TP	1804150	156858588	92097834	25	21594											
LRRC71	0	.	GRCh38	chr1	156932014	156932014	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaacaaggtccttttgcaCctcaacctcatccgtatgtc	9	11	8	13	1	2	0	2	0	0	0	5	1	4	1	4	2	3	2	4	2	4	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1428C>A	p.His476Gln	p.H476Q	ENST00000337428	13/15	271	185	86	179	179	0	strelka-varscan-mutect	LRRC71,missense_variant,p.His476Gln,ENST00000337428,NM_144702.2;ARHGEF11,downstream_gene_variant,,ENST00000368194,NM_198236.2;ARHGEF11,downstream_gene_variant,,ENST00000361409,NM_014784.3;MIR765,downstream_gene_variant,,ENST00000390226,;LRRC71,non_coding_transcript_exon_variant,,ENST00000490146,;LRRC71,intron_variant,,ENST00000476550,;ARHGEF11,downstream_gene_variant,,ENST00000487682,;ARHGEF11,downstream_gene_variant,,ENST00000492592,;LRRC71,upstream_gene_variant,,ENST00000472465,;	A	ENST00000337428	Transcript	missense_variant	1582/1959	1428/1680	476/559	H/Q	caC/caA		1		1	LRRC71	HGNC	HGNC:26556	protein_coding	YES	CCDS44249.1	ENSP00000336661	Q8N4P6		UPI00000719B9	NM_144702.2	deleterious(0.01)		13/15		Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF147,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	156932014	156932014	C	A	1	0	0	0	0	1	0	0	0	8918	506	18	2		2	LRRC71	1	156932014	Missense_Mutation	SNP	C	C3N-01016_TP	73426	156932014	92024408	26	21595											
FCRL4	0	.	GRCh38	chr1	157587402	157587402	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagttccgggtacgtgcTccagtctgacaggatgacct	7	10	13	11	2	1	2	0	2	1	0	3	4	3	4	3	3	2	3	3	3	1	2	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.721A>T	p.Ser241Cys	p.S241C	ENST00000271532	5/12	605	459	146	435	435	0	strelka-varscan-mutect	FCRL4,missense_variant,p.Ser241Cys,ENST00000271532,NM_031282.2;FCRL4,non_coding_transcript_exon_variant,,ENST00000448509,;	A	ENST00000271532	Transcript	missense_variant	857/3459	721/1548	241/515	S/C	Agc/Tgc		1		-1	FCRL4	HGNC	HGNC:18507	protein_coding	YES	CCDS1166.1	ENSP00000271532	Q96PJ5		UPI000006E26B	NM_031282.2	deleterious(0)		5/12		PROSITE_profiles:PS50835,hmmpanther:PTHR11481:SF59,hmmpanther:PTHR11481,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	157587402	157587402	T	A	1	0	0	0	0	1	0	0	0	5659	1551	54	4		4	FCRL4	1	157587402	Missense_Mutation	SNP	T	C3N-01016_TP	655388	157587402	91369020	27	21596											
KIRREL	0	.	GRCh38	chr1	158091430	158091430	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggagaggaccaactcaGgcagtggggtgctatccacg	10	6	15	10	1	1	1	1	0	0	1	2	3	2	2	2	5	2	2	2	5	2	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1345G>T	p.Gly449Cys	p.G449C	ENST00000359209	11/15	353	268	85	233	233	0	strelka-varscan-mutect	KIRREL,missense_variant,p.Gly349Cys,ENST00000368173,NM_001286349.1;KIRREL,missense_variant,p.Gly263Cys,ENST00000368172,;KIRREL,missense_variant,p.Gly285Cys,ENST00000360089,;KIRREL,missense_variant,p.Gly449Cys,ENST00000359209,NM_018240.6;	T	ENST00000359209	Transcript	missense_variant	1412/2874	1345/2274	449/757	G/C	Ggc/Tgc		1		1	KIRREL	HGNC	HGNC:15734	protein_coding	YES	CCDS1172.2	ENSP00000352138	Q96J84		UPI0000443FBD	NM_018240.6	deleterious(0)		11/15		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF14,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	158091430	158091430	G	T	1	0	0	0	0	1	0	0	0	8188	1000	35	2		2	KIRREL	1	158091430	Missense_Mutation	SNP	G	C3N-01016_TP	504028	158091430	90864992	28	21597											
LY9	0	.	GRCh38	chr1	160823781	160823781	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaacaccatgtatgcacaAgtgttcaacttacaggtgag	14	9	10	8	0	1	2	1	1	0	1	1	3	1	2	1	1	4	3	1	1	5	3	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.1815A>G	p.=	p.Q605Q	ENST00000263285	8/10	145	106	39	53	53	0	strelka-varscan-mutect	LY9,synonymous_variant,p.=,ENST00000368037,NM_001261456.1;LY9,synonymous_variant,p.=,ENST00000263285,NM_002348.3;LY9,synonymous_variant,p.=,ENST00000392203,NM_001261457.1;LY9,synonymous_variant,p.=,ENST00000368035,;	G	ENST00000263285	Transcript	synonymous_variant	1845/2443	1815/1968	605/655	Q	caA/caG		1		1	LY9	HGNC	HGNC:6730	protein_coding	YES	CCDS30916.1	ENSP00000263285	Q9HBG7		UPI00001416AF	NM_002348.3			8/10																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	67	160823781	160823781	A	G	1	0	0	0	0	0	0	0	1	9012	69	3	5		5	LY9	1	160823781	Silent	SNP	A	C3N-01016_TP	2732351	160823781	88132641	29	21598											
UHMK1	0	.	GRCh38	chr1	162500912	162500912	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatttactcatcttttttaGgatgtaaagtatattcagac	13	18	5	5	0	3	1	2	0	1	1	3	2	3	2	0	1	1	2	0	1	7	10	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.562-1G>T		p.X188_splice	ENST00000489294		94	72	22	58	58	0	strelka-varscan-mutect	UHMK1,splice_acceptor_variant,,ENST00000489294,NM_175866.4;UHMK1,splice_acceptor_variant,,ENST00000538489,NM_144624.2;UHMK1,splice_acceptor_variant,,ENST00000545294,NM_001184763.1;UHMK1,non_coding_transcript_exon_variant,,ENST00000282169,;	T	ENST00000489294	Transcript	splice_acceptor_variant	-/8478	562/1260	188/419				1		1	UHMK1	HGNC	HGNC:19683	protein_coding	YES	CCDS1239.1	ENSP00000420270	Q8TAS1		UPI000000DCCA	NM_175866.4				2/7																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	67	162500912	162500912	G	T	1	0	0	0	0	0	0	1	0	17490	1014	35	2		2	UHMK1	1	162500912	Splice_Site	SNP	G	C3N-01016_TP	1677131	162500912	86455510	30	21599											
DUSP27	0	.	GRCh38	chr1	167126935	167126935	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccagaagaaggtgggcAgtgagaacaaggaggaggtg	16	3	17	5	0	0	3	0	1	0	3	0	6	0	5	1	5	2	1	1	5	5	0	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.1804A>T	p.Ser602Cys	p.S602C	ENST00000361200	6/6	77	47	30	43	43	0	strelka-varscan-mutect	DUSP27,missense_variant,p.Ser602Cys,ENST00000361200,;DUSP27,missense_variant,p.Ser602Cys,ENST00000443333,NM_001080426.1;DUSP27,missense_variant,p.Ser602Cys,ENST00000271385,;GPA33,intron_variant,,ENST00000632571,;DUSP27,intron_variant,,ENST00000485151,;	T	ENST00000361200	Transcript	missense_variant	1970/4164	1804/3477	602/1158	S/C	Agt/Tgt		1		1	DUSP27	HGNC	HGNC:25034	protein_coding	YES	CCDS30932.1	ENSP00000354483	Q5VZP5		UPI000040DFF5		deleterious(0)		6/6																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	67	167126935	167126935	A	T	1	0	0	0	0	1	0	0	0	4646	188	7	4		4	DUSP27	1	167126935	Missense_Mutation	SNP	A	C3N-01016_TP	4626023	167126935	81829487	31	21600											
ADCY10	0	.	GRCh38	chr1	167856221	167856221	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagacagatcttgttggaGatgtcgttaggctgtactgc	9	13	12	7	1	2	3	1	0	1	3	3	4	2	3	0	2	2	4	0	2	3	4			C3N-01016_TP	C3N-01016_NB	G	G																c.2115C>G	p.Ile705Met	p.I705M	ENST00000367851	17/33	213	165	48	135	135	0	strelka-varscan-mutect	ADCY10,missense_variant,p.Ile613Met,ENST00000367848,NM_001297772.1;ADCY10,missense_variant,p.Ile705Met,ENST00000367851,NM_018417.5;ADCY10,missense_variant,p.Ile552Met,ENST00000545172,NM_001167749.2;	C	ENST00000367851	Transcript	missense_variant	2300/5051	2115/4833	705/1610	I/M	atC/atG	COSM349841	1		-1	ADCY10	HGNC	HGNC:21285	protein_coding	YES	CCDS1265.1	ENSP00000356825	Q96PN6	A0A0K0K1J8	UPI0000204D00	NM_018417.5	deleterious(0.04)		17/33		hmmpanther:PTHR16305,hmmpanther:PTHR16305:SF32,PIRSF_domain:PIRSF011131											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	67	167856221	167856221	G	C	1	0	0	0	0	1	0	0	0	337	932	33	4		4	ADCY10	1	167856221	Missense_Mutation	SNP	G	C3N-01016_TP	729286	167856221	81100201	32	21601											
F5	0	.	GRCh38	chr1	169515559	169515559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagagacttgcagccctgtGttataattgccgttatcttc	9	14	8	10	1	1	1	0	0	1	1	2	2	1	1	2	0	3	3	2	0	3	6	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.6413C>A	p.Thr2138Lys	p.T2138K	ENST00000367797	24/25	472	357	115	277	277	0	strelka-varscan-mutect	F5,missense_variant,p.Thr2143Lys,ENST00000367796,;F5,missense_variant,p.Thr2138Lys,ENST00000367797,NM_000130.4;F5,non_coding_transcript_exon_variant,,ENST00000495481,;	T	ENST00000367797	Transcript	missense_variant	6615/7024	6413/6675	2138/2224	T/K	aCa/aAa		1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4	deleterious(0)		24/25		Low_complexity_(Seg):seg,PROSITE_profiles:PS50022,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,PROSITE_patterns:PS01285,Gene3D:2.60.120.260,PIRSF_domain:PIRSF000354,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	169515559	169515559	G	T	1	0	0	0	0	1	0	0	0	5216	1377	48	2		2	F5	1	169515559	Missense_Mutation	SNP	G	C3N-01016_TP	1659338	169515559	79440863	33	21602											
PRRX1	0	.	GRCh38	chr1	170726383	170726383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccgattatctctcctgggGgacagcgtctccgtacaggt	7	10	11	13	3	2	0	0	0	2	0	5	2	3	1	3	3	2	1	3	3	2	2	rs766027745		C3N-01016_TP	C3N-01016_NB	G	G																c.581G>C	p.Gly194Ala	p.G194A	ENST00000239461	3/4	233	176	57	130	130	0	strelka-varscan-mutect	PRRX1,missense_variant,p.Gly194Ala,ENST00000239461,NM_022716.3;PRRX1,missense_variant,p.Gly194Ala,ENST00000497230,;PRRX1,missense_variant,p.Gly194Ala,ENST00000367760,NM_006902.4;PRRX1,non_coding_transcript_exon_variant,,ENST00000476867,;PRRX1,non_coding_transcript_exon_variant,,ENST00000495280,;PRRX1,upstream_gene_variant,,ENST00000496573,;PRRX1,upstream_gene_variant,,ENST00000485529,;	C	ENST00000239461	Transcript	missense_variant	894/4284	581/738	194/245	G/A	gGg/gCg	rs766027745,COSM3478168,COSM3478169	1		1	PRRX1	HGNC	HGNC:9142	protein_coding	YES	CCDS1290.1	ENSP00000239461	P54821		UPI0000131D11	NM_022716.3	tolerated(0.39)		3/4		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF335											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs766027745	.												C	3	2	67	170726383	170726383	G	C	1	0	0	0	0	1	0	0	0	12759	1232	43	4		4	PRRX1	1	170726383	Missense_Mutation	SNP	G	C3N-01016_TP	1210824	170726383	78230039	34	21603											
ABL2	0	.	GRCh38	chr1	179108005	179108005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcagcacattccagcagggCctctttgctgattttgtctg	6	14	10	11	0	3	1	1	1	2	0	4	1	4	1	2	1	3	3	2	1	0	4	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.3262G>T	p.Ala1088Ser	p.A1088S	ENST00000502732	12/12	294	230	64	254	251	3	strelka-varscan-mutect	ABL2,missense_variant,p.Ala1088Ser,ENST00000502732,NM_007314.3;ABL2,missense_variant,p.Ala970Ser,ENST00000344730,NM_001136000.2;ABL2,missense_variant,p.Ala1073Ser,ENST00000512653,NM_005158.4;ABL2,missense_variant,p.Ala1067Ser,ENST00000367623,NM_001168236.1;ABL2,missense_variant,p.Ala985Ser,ENST00000511413,NM_001168237.1;ABL2,missense_variant,p.Ala964Ser,ENST00000507173,NM_001168238.1;ABL2,missense_variant,p.Ala949Ser,ENST00000504405,NM_001168239.1;ABL2,downstream_gene_variant,,ENST00000392043,NM_001136001.1;	A	ENST00000502732	Transcript	missense_variant	3466/12144	3262/3549	1088/1182	A/S	Gcc/Tcc		1		-1	ABL2	HGNC	HGNC:77	protein_coding	YES	CCDS30947.1	ENSP00000427562	P42684		UPI0000125140	NM_007314.3	deleterious_low_confidence(0.01)		12/12		Gene3D:1.20.120.330,Pfam_domain:PF08919,SMART_domains:SM00808																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	179108005	179108005	C	A	1	0	0	0	0	1	0	0	0	103	739	26	2		2	ABL2	1	179108005	Missense_Mutation	SNP	C	C3N-01016_TP	8381622	179108005	69848417	35	21604											
PPFIA4	0	.	GRCh38	chr1	203053806	203053806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccggcagctggccctgcCtttgacagtgaccctgagat	6	8	12	15	1	0	3	0	3	0	1	0	4	0	3	5	2	2	2	5	2	0	1	rs769099610		C3N-01016_TP	C3N-01016_NB	C	C																c.1643C>A	p.Pro548His	p.P548H	ENST00000447715	19/35	352	242	110	322	321	1	strelka-varscan	PPFIA4,missense_variant,p.Pro548His,ENST00000447715,;PPFIA4,synonymous_variant,p.=,ENST00000367240,NM_001304331.1,NM_001304332.1;PPFIA4,synonymous_variant,p.=,ENST00000295706,;PPFIA4,synonymous_variant,p.=,ENST00000272198,;PPFIA4,synonymous_variant,p.=,ENST00000599966,;PPFIA4,synonymous_variant,p.=,ENST00000600426,;PPFIA4,synonymous_variant,p.=,ENST00000599514,;PPFIA4,non_coding_transcript_exon_variant,,ENST00000600447,;	A	ENST00000447715	Transcript	missense_variant	2084/6349	1643/3558	548/1185	P/H	cCt/cAt	rs769099610	1		1	PPFIA4	HGNC	HGNC:9248	protein_coding	YES		ENSP00000402576	O75335		UPI0001661778		deleterious(0.03)		19/35		hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	203053806	203053806	C	A	1	0	0	0	0	1	0	0	0	12421	668	24	2		2	PPFIA4	1	203053806	Missense_Mutation	SNP	C	C3N-01016_TP	23945801	203053806	45902616	36	21605											
USH2A	0	.	GRCh38	chr1	215965445	215965445	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacaaacacatttactgttCcttcaggaggagcttctaga	12	12	8	9	0	2	2	1	1	1	1	3	4	3	4	1	2	3	2	1	2	3	6	rs754075911		C3N-01016_TP	C3N-01016_NB	C	C																c.6992G>T	p.Gly2331Val	p.G2331V	ENST00000307340	37/72	275	190	85	215	213	2	strelka-varscan	USH2A,missense_variant,p.Gly2331Val,ENST00000307340,NM_206933.2;	A	ENST00000307340	Transcript	missense_variant	7379/18883	6992/15609	2331/5202	G/V	gGa/gTa	rs754075911	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		37/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	215965445	215965445	C	A	1	0	0	0	0	1	0	0	0	17570	855	30	2		2	USH2A	1	215965445	Missense_Mutation	SNP	C	C3N-01016_TP	12911639	215965445	32990977	37	21606											
DNAH14	0	.	GRCh38	chr1	225240783	225240783	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaacatacgattttgacAaacttgttcatgaattattt	15	16	5	5	1	1	2	1	2	0	0	1	3	1	2	0	0	3	2	0	0	6	8	rs773162310		C3N-01016_TP	C3N-01016_NB	A	A																c.6643A>T	p.Lys2215Ter	p.K2215*	ENST00000430092	42/84	270	195	75	130	130	0	strelka-varscan	DNAH14,stop_gained,p.Lys2215Ter,ENST00000430092,NM_001373.1;DNAH14,stop_gained,p.Lys2215Ter,ENST00000439375,;DNAH14,stop_gained,p.Lys1810Ter,ENST00000445597,;DNAH14,upstream_gene_variant,,ENST00000327794,;	T	ENST00000430092	Transcript	stop_gained	6858/13763	6643/13548	2215/4515	K/*	Aaa/Taa	rs773162310	1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000414402	Q0VDD8		UPI000192C36D	NM_001373.1			42/84		hmmpanther:PTHR10676:SF254,hmmpanther:PTHR10676																	HIGH		SNV	5			1										PASS		.	.												T	4	4	67	225240783	225240783	A	T	1	0	0	0	0	0	1	0	0	4415	131	5	4		4	DNAH14	1	225240783	Nonsense_Mutation	SNP	A	C3N-01016_TP	9275338	225240783	23715639	38	21607											
MAP10	0	.	GRCh38	chr1	232807606	232807606	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtaccagtgaggacacCagcagaagtttcaaagctca	13	9	9	10	0	3	2	2	1	1	1	3	3	3	3	2	1	3	4	2	1	3	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.2583C>T	p.=	p.T861T	ENST00000418460	1/1	181	112	69	86	86	0	strelka-varscan-mutect	MAP10,synonymous_variant,p.=,ENST00000418460,NM_019090.2;	T	ENST00000418460	Transcript	synonymous_variant	2715/3516	2583/3144	861/1047	T	acC/acT		1		1	MAP10	HGNC	HGNC:29265	protein_coding	YES	CCDS44334.1	ENSP00000403208	Q9P2G4		UPI0000418F25	NM_019090.2			1/1		Pfam_domain:PF14925,hmmpanther:PTHR21831,hmmpanther:PTHR21831:SF2																	LOW	1	SNV				1										PASS		.	.												T	2	4	67	232807606	232807606	C	T	1	0	0	0	0	0	0	0	1	9149	581	21	3		3	MAP10	1	232807606	Silent	SNP	C	C3N-01016_TP	7566823	232807606	16148816	39	21608											
RYR2	0	.	GRCh38	chr1	237503461	237503461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggccccacagtttccCtgacgcaagctgccttcaca	7	9	9	16	1	1	1	1	1	0	0	2	1	2	1	4	1	3	4	4	1	1	2			C3N-01016_TP	C3N-01016_NB	C	C																c.2569C>A	p.Leu857Met	p.L857M	ENST00000366574	22/105	225	174	51	154	154	0	strelka-varscan-mutect	RYR2,missense_variant,p.Leu857Met,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Leu841Met,ENST00000360064,;	A	ENST00000366574	Transcript	missense_variant	2886/16562	2569/14904	857/4967	L/M	Ctg/Atg	COSM323164,COSM3485708	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0.05)		22/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	67	237503461	237503461	C	A	1	0	0	0	0	1	0	0	0	14029	680	24	2		2	RYR2	1	237503461	Missense_Mutation	SNP	C	C3N-01016_TP	4695855	237503461	11452961	40	21609											
RYR2	0	.	GRCh38	chr1	237783934	237783934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgtgcggagacggatgaGaatgaaaccctcgactacga	12	8	12	9	4	1	3	0	2	1	2	2	8	1	4	1	2	3	0	1	2	3	2			C3N-01016_TP	C3N-01016_NB	G	G																c.12222G>A	p.=	p.E4074E	ENST00000366574	90/105	409	375	34	304	304	0	strelka-varscan-mutect	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	A	ENST00000366574	Transcript	synonymous_variant	12539/16562	12222/14904	4074/4967	E	gaG/gaA	COSM2048972,COSM4234605	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			90/105		Gene3D:1.10.238.10,Pfam_domain:PF13833,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Superfamily_domains:SSF47473											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	67	237783934	237783934	G	A	1	0	0	0	0	0	0	0	1	14029	933	33	3		3	RYR2	1	237783934	Silent	SNP	G	C3N-01016_TP	280473	237783934	11172488	41	21610											
RYR2	0	.	GRCh38	chr1	237791480	237791480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgttagccttatttgtcGcatttgctatcaatttcatc	9	18	6	8	1	2	0	2	0	0	0	4	1	2	0	1	0	2	3	1	0	5	6	rs397516510		C3N-01016_TP	C3N-01016_NB	G	G																c.13528G>T	p.Ala4510Ser	p.A4510S	ENST00000366574	93/105	166	128	38	101	101	0	strelka-varscan-mutect	RYR2,missense_variant,p.Ala4510Ser,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Ala4493Ser,ENST00000360064,;RYR2,upstream_gene_variant,,ENST00000608590,;	T	ENST00000366574	Transcript	missense_variant	13845/16562	13528/14904	4510/4967	A/S	Gca/Tca	rs397516510,CM043079,COSM259084,COSM5071048	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0.03)		93/105		Pfam_domain:PF06459,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Transmembrane_helices:TMhelix										uncertain_significance,likely_pathogenic,pathogenic	0,0,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs397516510	.												T	3	4	67	237791480	237791480	G	T	1	0	0	0	0	1	0	0	0	14029	1087	38	1		1	RYR2	1	237791480	Missense_Mutation	SNP	G	C3N-01016_TP	7546	237791480	11164942	42	21611											
RGS7	0	.	GRCh38	chr1	240813714	240813714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtattctaaatactgttccGtgtaacttagtagactaagg	12	14	8	7	2	1	1	0	0	1	1	2	1	2	1	1	1	2	4	1	1	8	9	rs751557145		C3N-01016_TP	C3N-01016_NB	G	G																c.860C>A	p.Thr287Lys	p.T287K	ENST00000366565	13/18	366	339	27	285	285	0	strelka-varscan-mutect	RGS7,missense_variant,p.Thr287Lys,ENST00000366565,NM_002924.5;RGS7,missense_variant,p.Thr287Lys,ENST00000366564,NM_001282778.1;RGS7,missense_variant,p.Thr287Lys,ENST00000366563,NM_001282775.1;RGS7,missense_variant,p.Thr234Lys,ENST00000348120,NM_001282773.1;RGS7,missense_variant,p.Thr118Lys,ENST00000440928,;	T	ENST00000366565	Transcript	missense_variant	1242/2494	860/1464	287/487	T/K	aCg/aAg	rs751557145,COSM1146246,COSM1646109,COSM679748	1		-1	RGS7	HGNC	HGNC:10003	protein_coding	YES	CCDS31071.1	ENSP00000355523	P49802		UPI000040E182	NM_002924.5	tolerated(0.28)		13/18		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF26,Pfam_domain:PF00631,Gene3D:4.10.260.10,SMART_domains:SM00224,SMART_domains:SM01224,Superfamily_domains:SSF48670											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs751557145	.												T	3	4	67	240813714	240813714	G	T	1	0	0	0	0	1	0	0	0	13481	1145	40	1		1	RGS7	1	240813714	Missense_Mutation	SNP	G	C3N-01016_TP	3022234	240813714	8142708	43	21612											
KMO	0	.	GRCh38	chr1	241592019	241592019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtacctacctacttataCactacatgtcaccacgatct	12	11	4	14	1	2	0	1	0	1	0	2	1	2	0	3	0	5	2	3	0	6	6	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1327C>T	p.His443Tyr	p.H443Y	ENST00000366559	15/15	422	302	120	364	364	0	strelka-varscan-mutect	KMO,missense_variant,p.His443Tyr,ENST00000366559,NM_003679.4;KMO,missense_variant,p.His409Tyr,ENST00000366557,;KMO,missense_variant,p.His430Tyr,ENST00000366558,;KMO,missense_variant,p.His129Tyr,ENST00000366555,;OPN3,downstream_gene_variant,,ENST00000366554,NM_014322.2;OPN3,non_coding_transcript_exon_variant,,ENST00000462265,;OPN3,downstream_gene_variant,,ENST00000463155,;OPN3,downstream_gene_variant,,ENST00000469376,;OPN3,downstream_gene_variant,,ENST00000490673,;OPN3,downstream_gene_variant,,ENST00000478849,;	T	ENST00000366559	Transcript	missense_variant	1638/5261	1327/1461	443/486	H/Y	Cac/Tac		1		1	KMO	HGNC	HGNC:6381	protein_coding	YES	CCDS1618.1	ENSP00000355517	O15229		UPI000045632A	NM_003679.4	tolerated(0.87)		15/15		HAMAP:MF_01971,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	241592019	241592019	C	T	1	0	0	0	0	1	0	0	0	8294	478	17	3		3	KMO	1	241592019	Missense_Mutation	SNP	C	C3N-01016_TP	778305	241592019	7364403	44	21613											
AKT3	0	.	GRCh38	chr1	243573029	243573029	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagagaacacccgctctCtcgacaaatggaaaaacagc	15	5	7	14	2	2	1	1	0	1	1	4	4	2	2	2	1	3	1	2	1	4	0	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.716G>T	p.Arg239Ile	p.R239I	ENST00000263826	8/13	139	85	54	108	108	0	strelka-varscan-mutect	AKT3,missense_variant,p.Arg239Ile,ENST00000263826,NM_005465.4;AKT3,missense_variant,p.Arg239Ile,ENST00000366539,;AKT3,missense_variant,p.Arg239Ile,ENST00000336199,NM_181690.2;AKT3,missense_variant,p.Arg239Ile,ENST00000366540,NM_001206729.1;	A	ENST00000263826	Transcript	missense_variant	828/7081	716/1440	239/479	R/I	aGa/aTa		1		-1	AKT3	HGNC	HGNC:393	protein_coding	YES	CCDS31077.1	ENSP00000263826	Q9Y243		UPI00000335E8	NM_005465.4	deleterious(0)		8/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF190,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	243573029	243573029	C	A	1	0	0	0	0	1	0	0	0	564	913	32	2		2	AKT3	1	243573029	Missense_Mutation	SNP	C	C3N-01016_TP	1981010	243573029	5383393	45	21614											
OR1C1	0	.	GRCh38	chr1	247758221	247758221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaaaggccaagttactaagGaagaagtacataggggaatg	18	6	12	5	0	0	1	0	0	0	1	0	3	0	3	1	4	2	2	1	4	9	4	rs866016097		C3N-01016_TP	C3N-01016_NB	G	G																c.186C>A	p.Phe62Leu	p.F62L	ENST00000408896	1/1	267	172	95	195	195	0	strelka-varscan-mutect	OR1C1,missense_variant,p.Phe62Leu,ENST00000408896,NM_012353.2;	T	ENST00000408896	Transcript	missense_variant	186/945	186/945	62/314	F/L	ttC/ttA	rs866016097,COSM2232445	1		-1	OR1C1	HGNC	HGNC:8182	protein_coding	YES	CCDS41481.1	ENSP00000386138	Q15619	A0A126GV94	UPI000004B1DC	NM_012353.2	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF388,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											0,1						MODERATE	1	SNV			0,1	1										PASS		rs866016097	.												T	3	4	67	247758221	247758221	G	T	1	0	0	0	0	1	0	0	0	11029	1165	41	2		2	OR1C1	1	247758221	Missense_Mutation	SNP	G	C3N-01016_TP	4185192	247758221	1198201	46	21615											
OR2AJ1	0	.	GRCh38	chr1	247933903	247933903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacagaaaatacgctcatGatcctcctcattcgcagtga	13	10	7	11	2	2	3	2	2	0	1	5	3	4	3	2	0	2	3	2	0	4	3	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.135G>T	p.Met45Ile	p.M45I	ENST00000318244	1/1	97	87	10	74	74	0	strelka-varscan-mutect	OR2AJ1,missense_variant,p.Met45Ile,ENST00000318244,;CLK3P2,downstream_gene_variant,,ENST00000427566,;	T	ENST00000318244	Transcript	missense_variant	135/987	135/987	45/328	M/I	atG/atT		1		1	OR2AJ1	HGNC	HGNC:15001	protein_coding	YES		ENSP00000325078	Q8NGZ0		UPI0000061E5C		tolerated(0.07)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF214,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs1047799203	.												T	3	4	67	247933903	247933903	G	T	1	0	0	0	0	1	0	0	0	11063	1290	45	2		2	OR2AJ1	1	247933903	Missense_Mutation	SNP	G	C3N-01016_TP	175682	247933903	1022519	47	21616											
OR2M3	0	.	GRCh38	chr1	248203825	248203825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtggtgggaatgtactatgGagcagctttgttcatgtaca	9	13	14	5	0	1	0	1	0	0	0	1	2	1	2	0	4	4	5	0	4	4	5			C3N-01016_TP	C3N-01016_NB	G	G																c.758G>T	p.Gly253Val	p.G253V	ENST00000456743	1/1	540	369	171	461	459	2	strelka-varscan-mutect	OR2M3,missense_variant,p.Gly253Val,ENST00000456743,NM_001004689.1;	T	ENST00000456743	Transcript	missense_variant	758/939	758/939	253/312	G/V	gGa/gTa	COSM2233250	1		1	OR2M3	HGNC	HGNC:8269	protein_coding	YES	CCDS31107.1	ENSP00000389625	Q8NG83	A0A126GV67	UPI000004B234	NM_001004689.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF28,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	67	248203825	248203825	G	T	1	0	0	0	0	1	0	0	0	11089	1174	41	2		2	OR2M3	1	248203825	Missense_Mutation	SNP	G	C3N-01016_TP	269922	248203825	752597	48	21617											
OR2T12	0	.	GRCh38	chr1	248295134	248295134	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgtcagctgcacccaGgagccaggacgacatggtca	10	4	14	13	2	2	0	2	0	0	0	2	4	2	2	3	4	3	2	3	4	0	0	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.445C>G	p.Leu149Val	p.L149V	ENST00000317996	1/1	466	351	115	376	375	1	strelka-varscan-mutect	OR2T12,missense_variant,p.Leu149Val,ENST00000317996,NM_001004692.1;	C	ENST00000317996	Transcript	missense_variant	445/963	445/963	149/320	L/V	Ctg/Gtg		1		-1	OR2T12	HGNC	HGNC:19592	protein_coding	YES	CCDS31110.1	ENSP00000324583	Q8NG77		UPI000004B235	NM_001004692.1	tolerated(0.15)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	67	248295134	248295134	G	C	1	0	0	0	0	1	0	0	0	11096	991	35	4		4	OR2T12	1	248295134	Missense_Mutation	SNP	G	C3N-01016_TP	91309	248295134	661288	49	21618											
OR2T6	0	.	GRCh38	chr1	248387762	248387762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcctgattaacataGaccctcatctccacaccccc	10	11	3	17	0	3	3	1	2	2	1	5	3	4	3	5	0	1	0	5	0	2	3	rs749687401		C3N-01016_TP	C3N-01016_NB	G	G																c.154G>T	p.Asp52Tyr	p.D52Y	ENST00000355728	1/1	125	78	47	115	115	0	strelka-varscan-mutect	OR2T6,missense_variant,p.Asp52Tyr,ENST00000355728,NM_001005471.1;	T	ENST00000355728	Transcript	missense_variant	154/927	154/927	52/308	D/Y	Gac/Tac	rs749687401,COSM246233	1		1	OR2T6	HGNC	HGNC:15018	protein_coding	YES	CCDS31114.1	ENSP00000347965	Q8NHC8		UPI0000199147	NM_001005471.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs749687401	.												T	3	4	67	248387762	248387762	G	T	1	0	0	0	0	1	0	0	0	11106	942	33	2		2	OR2T6	1	248387762	Missense_Mutation	SNP	G	C3N-01016_TP	92628	248387762	568660	50	21619											
LYPD8	0	.	GRCh38	chr1	248739782	248739782	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcttgttttcaccagaCaggaactgacaggtggcgtt	10	11	12	8	1	2	3	1	1	1	2	2	4	2	4	1	3	1	2	1	3	1	4	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.543G>T	p.=	p.L181L	ENST00000590317	7/7	445	270	175	381	381	0	strelka-varscan-mutect	LYPD8,synonymous_variant,p.=,ENST00000590317,NM_001291283.1,NM_001085474.1;XX-CR54.1,intron_variant,,ENST00000611154,;LYPD8,intron_variant,,ENST00000566597,;	A	ENST00000590317	Transcript	synonymous_variant	775/1142	543/714	181/237	L	ctG/ctT		1		-1	LYPD8	HGNC	HGNC:44208	protein_coding	YES	CCDS73059.1	ENSP00000466070	Q6UX82		UPI00017648F2	NM_001291283.1,NM_001085474.1			7/7		hmmpanther:PTHR20914,hmmpanther:PTHR20914:SF2																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	67	248739782	248739782	C	A	1	0	0	0	0	0	0	0	1	9027	465	17	2		2	LYPD8	1	248739782	Silent	SNP	C	C3N-01016_TP	352020	248739782	216640	51	21620											
LPIN1	0	.	GRCh38	chr2	11785052	11785052	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctctgcgggggcctcAgcgaccaccgggagatcacg	6	6	13	16	4	4	1	2	0	2	1	5	3	4	1	4	3	2	0	4	3	0	0	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.1672A>G	p.Ser558Gly	p.S558G	ENST00000449576	11/22	75	69	6	54	54	0	varscan-mutect	LPIN1,missense_variant,p.Ser515Gly,ENST00000396097,;LPIN1,missense_variant,p.Ser479Gly,ENST00000425416,NM_001261427.1;LPIN1,missense_variant,p.Ser473Gly,ENST00000256720,NM_145693.2;LPIN1,missense_variant,p.Ser558Gly,ENST00000449576,NM_001261428.1;LPIN1,downstream_gene_variant,,ENST00000396098,NM_001261429.1;LPIN1,upstream_gene_variant,,ENST00000454151,;LPIN1,non_coding_transcript_exon_variant,,ENST00000404113,;LPIN1,downstream_gene_variant,,ENST00000475286,;LPIN1,missense_variant,p.Ser515Gly,ENST00000396099,;LPIN1,downstream_gene_variant,,ENST00000460096,;LPIN1,upstream_gene_variant,,ENST00000464953,;	G	ENST00000449576	Transcript	missense_variant	1725/3077	1672/2928	558/975	S/G	Agc/Ggc		1		1	LPIN1	HGNC	HGNC:13345	protein_coding	YES	CCDS58699.1	ENSP00000397908	Q14693		UPI0002064F62	NM_001261428.1	tolerated(0.47)		11/22		Pfam_domain:PF16876,hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF10																	MODERATE	1	SNV	2			1										PASS		rs1230541535	.												G	3	3	67	11785052	11785052	A	G	1	0	0	0	0	1	0	0	0	8818	188	7	5		5	LPIN1	2	11785052	Missense_Mutation	SNP	A	C3N-01016_TP		11785052	230408477	52	21621											
EMILIN1	0	.	GRCh38	chr2	27082897	27082897	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccactggctgcctgctgcCcggggccgactagagcagtt	6	7	14	14	2	0	1	0	0	0	1	0	2	0	1	4	3	5	4	4	3	1	2			C3N-01016_TP	C3N-01016_NB	C	C																c.1326C>T	p.=	p.A442A	ENST00000380320	4/8	91	64	27	85	84	1	strelka-varscan-mutect	EMILIN1,synonymous_variant,p.=,ENST00000380320,NM_007046.3;KHK,upstream_gene_variant,,ENST00000260599,NM_000221.2;KHK,upstream_gene_variant,,ENST00000260598,NM_006488.2;EMILIN1,upstream_gene_variant,,ENST00000433140,;KHK,upstream_gene_variant,,ENST00000429697,;KHK,upstream_gene_variant,,ENST00000490823,;	T	ENST00000380320	Transcript	synonymous_variant	1825/3943	1326/3051	442/1016	A	gcC/gcT	COSM1718733	1		1	EMILIN1	HGNC	HGNC:19880	protein_coding	YES	CCDS1733.1	ENSP00000369677		A0A0C4DFX3	UPI0000073B0E	NM_007046.3			4/8													1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	67	27082897	27082897	C	T	1	0	0	0	0	0	0	0	1	4936	610	22	3		3	EMILIN1	2	27082897	Silent	SNP	C	C3N-01016_TP	15297845	27082897	215110632	53	21622											
FSHR	0	.	GRCh38	chr2	49068275	49068275	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttggatgactcgaagcttGgtgaggacaaacctcctgca	10	11	11	9	1	0	2	0	2	0	0	2	5	1	4	2	3	3	2	2	3	2	3	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.168C>A	p.=	p.T56T	ENST00000406846	2/10	381	294	87	396	396	0	strelka-varscan-mutect	FSHR,synonymous_variant,p.=,ENST00000406846,NM_000145.3;FSHR,synonymous_variant,p.=,ENST00000304421,NM_181446.2;FSHR,synonymous_variant,p.=,ENST00000454032,;RP11-460M2.1,intron_variant,,ENST00000634588,;FSHR,synonymous_variant,p.=,ENST00000419927,;	T	ENST00000406846	Transcript	synonymous_variant	288/2784	168/2088	56/695	T	acC/acA		1		-1	FSHR	HGNC	HGNC:3969	protein_coding	YES	CCDS1843.1	ENSP00000384708			UPI000013E97A	NM_000145.3			2/10		Gene3D:3.80.10.10,Prints_domain:PR01143,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF5,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	67	49068275	49068275	G	T	1	0	0	0	0	0	0	0	1	5947	1335	47	2		2	FSHR	2	49068275	Silent	SNP	G	C3N-01016_TP	21985378	49068275	193125254	54	21623											
USP34	0	.	GRCh38	chr2	61284887	61284887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcatacctaggagccagaTtatcatacgtataagcaaca	16	9	7	9	1	1	1	1	0	0	1	1	2	1	2	2	1	6	3	2	1	7	6	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.4820A>G	p.Asn1607Ser	p.N1607S	ENST00000398571	35/80	158	113	45	96	96	0	strelka-varscan-mutect	USP34,missense_variant,p.Asn1607Ser,ENST00000398571,NM_014709.3;USP34,upstream_gene_variant,,ENST00000453734,;USP34,intron_variant,,ENST00000472706,;USP34,upstream_gene_variant,,ENST00000484179,;USP34,upstream_gene_variant,,ENST00000494867,;	C	ENST00000398571	Transcript	missense_variant	4897/11357	4820/10641	1607/3546	N/S	aAt/aGt		1		-1	USP34	HGNC	HGNC:20066	protein_coding	YES	CCDS42686.1	ENSP00000381577	Q70CQ2		UPI0000410E09	NM_014709.3	tolerated(0.51)		35/80		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF97																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	67	61284887	61284887	T	C	1	0	0	0	0	1	0	0	0	17607	1493	52	5		5	USP34	2	61284887	Missense_Mutation	SNP	T	C3N-01016_TP	12216612	61284887	180908642	55	21624											
USP34	0	.	GRCh38	chr2	61348431	61348431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctaccaggaccactgcttCcatcttcaccactgttggca	8	11	7	15	0	2	0	1	0	1	0	3	1	3	1	4	2	3	4	4	2	1	4	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1724G>T	p.Gly575Val	p.G575V	ENST00000398571	15/80	218	157	61	129	129	0	strelka-varscan-mutect	USP34,missense_variant,p.Gly575Val,ENST00000398571,NM_014709.3;USP34,upstream_gene_variant,,ENST00000460004,;USP34,3_prime_UTR_variant,,ENST00000453133,;	A	ENST00000398571	Transcript	missense_variant	1801/11357	1724/10641	575/3546	G/V	gGa/gTa		1		-1	USP34	HGNC	HGNC:20066	protein_coding	YES	CCDS42686.1	ENSP00000381577	Q70CQ2		UPI0000410E09	NM_014709.3	deleterious_low_confidence(0.04)		15/80		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	67	61348431	61348431	C	A	1	0	0	0	0	1	0	0	0	17607	855	30	2		2	USP34	2	61348431	Missense_Mutation	SNP	C	C3N-01016_TP	63544	61348431	180845098	56	21625											
LGALSL	0	.	GRCh38	chr2	64456419	64456419	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggagaggggtgaagaacAgtcagcaatcccttactttc	11	9	13	8	0	1	3	1	1	0	2	3	4	2	3	1	4	3	1	1	4	4	2	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.329A>T	p.Gln110Leu	p.Q110L	ENST00000238875	4/5	123	90	33	85	85	0	strelka-varscan-mutect	LGALSL,missense_variant,p.Gln110Leu,ENST00000238875,NM_014181.2;LGALSL,missense_variant,p.Gln110Leu,ENST00000464281,;LGALSL,intron_variant,,ENST00000409537,;AC008074.3,upstream_gene_variant,,ENST00000441630,;LGALSL,3_prime_UTR_variant,,ENST00000420552,;LGALSL,3_prime_UTR_variant,,ENST00000462737,;	T	ENST00000238875	Transcript	missense_variant	783/3926	329/519	110/172	Q/L	cAg/cTg		1		1	LGALSL	HGNC	HGNC:25012	protein_coding	YES	CCDS1877.1	ENSP00000238875	Q3ZCW2		UPI000013CA5E	NM_014181.2	deleterious(0)		4/5		PROSITE_profiles:PS51304,hmmpanther:PTHR11346:SF98,hmmpanther:PTHR11346,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00276,SMART_domains:SM00908,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	64456419	64456419	A	T	1	0	0	0	0	1	0	0	0	8660	188	7	4		4	LGALSL	2	64456419	Missense_Mutation	SNP	A	C3N-01016_TP	3107988	64456419	177737110	57	21626											
DYSF	0	.	GRCh38	chr2	71574201	71574201	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttctcttgtgcagcacAggcaggcggaggcggagggc	6	6	16	13	2	1	0	0	0	1	0	2	2	1	2	2	6	2	3	2	6	0	2	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.3232A>T	p.Arg1078Trp	p.R1078W	ENST00000410020	30/56	126	95	31	109	109	0	strelka-varscan-mutect	DYSF,missense_variant,p.Arg1060Trp,ENST00000258104,NM_003494.3,NM_001130976.1;DYSF,missense_variant,p.Arg1077Trp,ENST00000409582,NM_001130981.1,NM_001130977.1;DYSF,missense_variant,p.Arg1091Trp,ENST00000413539,NM_001130979.1;DYSF,missense_variant,p.Arg1060Trp,ENST00000429174,NM_001130978.1;DYSF,missense_variant,p.Arg1077Trp,ENST00000409762,NM_001130980.1;DYSF,missense_variant,p.Arg1078Trp,ENST00000410020,NM_001130987.1;DYSF,missense_variant,p.Arg1092Trp,ENST00000409651,NM_001130982.1;DYSF,missense_variant,p.Arg1061Trp,ENST00000409366,NM_001130983.1;DYSF,missense_variant,p.Arg1078Trp,ENST00000410041,NM_001130985.1;DYSF,missense_variant,p.Arg1047Trp,ENST00000409744,NM_001130984.1,NM_001130986.1;DYSF,missense_variant,p.Arg1061Trp,ENST00000394120,NM_001130455.1;DYSF,upstream_gene_variant,,ENST00000479049,;DYSF,upstream_gene_variant,,ENST00000475076,;DYSF,downstream_gene_variant,,ENST00000461565,;	T	ENST00000410020	Transcript	missense_variant	3373/6657	3232/6360	1078/2119	R/W	Agg/Tgg		1		1	DYSF	HGNC	HGNC:3097	protein_coding	YES	CCDS46328.1	ENSP00000386881	O75923		UPI000171F710	NM_001130987.1	deleterious(0.02)		30/56																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	71574201	71574201	A	T	1	0	0	0	0	1	0	0	0	4683	202	7	4		4	DYSF	2	71574201	Missense_Mutation	SNP	A	C3N-01016_TP	7117782	71574201	170619328	58	21627											
ALMS1	0	.	GRCh38	chr2	73448095	73448095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtctcagttggctgtaaGttctcctctagaaactacta	9	14	7	11	0	3	1	1	0	3	1	5	1	3	1	2	1	2	4	2	1	5	6	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1568G>T	p.Ser523Ile	p.S523I	ENST00000613296	8/23	231	174	57	157	157	0	strelka-varscan-mutect	ALMS1,missense_variant,p.Ser523Ile,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Ser481Ile,ENST00000484298,;ALMS1,missense_variant,p.Ser523Ile,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000620466,;ALMS1,upstream_gene_variant,,ENST00000423048,;	T	ENST00000613296	Transcript	missense_variant	1679/12925	1568/12507	523/4168	S/I	aGt/aTt		1		1	ALMS1	HGNC	HGNC:428	protein_coding	YES	CCDS42697.1	ENSP00000482968		A0A087WZY3	UPI00046209B2	NM_015120.4	deleterious_low_confidence(0.02)		8/23		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22																	MODERATE	1	SNV	1			1										PASS		rs797045226	.												T	3	4	67	73448095	73448095	G	T	1	0	0	0	0	1	0	0	0	635	1029	36	2		2	ALMS1	2	73448095	Missense_Mutation	SNP	G	C3N-01016_TP	1873894	73448095	168745434	59	21628											
SMYD1	0	.	GRCh38	chr2	88110499	88110499	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatccccagctctgttccAcaagaagcaatgaggactgc	11	7	9	14	0	1	2	0	1	1	1	3	3	3	3	4	1	3	3	4	1	3	1	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.1460A>G	p.His487Arg	p.H487R	ENST00000419482	10/10	68	45	23	63	63	0	strelka-varscan-mutect	SMYD1,missense_variant,p.His487Arg,ENST00000419482,NM_198274.3;SMYD1,missense_variant,p.His474Arg,ENST00000444564,;SMYD1,intron_variant,,ENST00000438570,;	G	ENST00000419482	Transcript	missense_variant	1545/4433	1460/1473	487/490	H/R	cAc/cGc		1		1	SMYD1	HGNC	HGNC:20986	protein_coding	YES	CCDS33240.1	ENSP00000393453	Q8NB12	A0A0A6YYB2	UPI000006EB68	NM_198274.3	tolerated_low_confidence(0.28)		10/10																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	67	88110499	88110499	A	G	1	0	0	0	0	1	0	0	0	15142	159	6	5		5	SMYD1	2	88110499	Missense_Mutation	SNP	A	C3N-01016_TP	14662404	88110499	154083030	60	21629											
ZAP70	0	.	GRCh38	chr2	97737630	97737630	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcagcgactttggcctcTccaaagcactgggtgccgac	9	8	11	13	2	2	1	1	0	1	1	3	3	2	1	3	2	3	1	3	2	1	1	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.1447T>A	p.Ser483Thr	p.S483T	ENST00000264972	11/14	285	231	54	291	291	0	strelka-varscan-mutect	ZAP70,missense_variant,p.Ser483Thr,ENST00000264972,NM_001079.3;ZAP70,missense_variant,p.Ser176Thr,ENST00000451498,NM_207519.1;ZAP70,non_coding_transcript_exon_variant,,ENST00000463643,;ZAP70,non_coding_transcript_exon_variant,,ENST00000487283,;ZAP70,non_coding_transcript_exon_variant,,ENST00000495754,;ZAP70,downstream_gene_variant,,ENST00000483781,;ZAP70,upstream_gene_variant,,ENST00000489250,;ZAP70,downstream_gene_variant,,ENST00000498836,;	A	ENST00000264972	Transcript	missense_variant	1662/2437	1447/1860	483/619	S/T	Tcc/Acc		1		1	ZAP70	HGNC	HGNC:12858	protein_coding	YES	CCDS33254.1	ENSP00000264972	P43403		UPI000013C370	NM_001079.3	deleterious(0)		11/14		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000604,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF262,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	97737630	97737630	T	A	1	0	0	0	0	1	0	0	0	18075	1551	54	4		4	ZAP70	2	97737630	Missense_Mutation	SNP	T	C3N-01016_TP	9627131	97737630	144455899	61	21630											
TMEM131	0	.	GRCh38	chr2	97805448	97805448	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatcaaaataaatgtttgCaatctataaagaggcacagg	18	9	9	5	0	2	1	1	0	1	1	2	2	2	2	0	3	1	3	0	3	8	4	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.2212G>T	p.Ala738Ser	p.A738S	ENST00000186436	21/41	146	89	57	159	159	0	strelka-varscan-mutect	TMEM131,missense_variant,p.Ala738Ser,ENST00000186436,NM_015348.1;	A	ENST00000186436	Transcript	missense_variant	2441/6640	2212/5652	738/1883	A/S	Gca/Tca		1		-1	TMEM131	HGNC	HGNC:30366	protein_coding	YES	CCDS46368.1	ENSP00000186436	Q92545		UPI00006C0498	NM_015348.1	deleterious(0.02)		21/41		hmmpanther:PTHR22050:SF1,hmmpanther:PTHR22050																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	67	97805448	97805448	C	A	1	0	0	0	0	1	0	0	0	16488	724	25	2		2	TMEM131	2	97805448	Missense_Mutation	SNP	C	C3N-01016_TP	67818	97805448	144388081	62	21631											
POLR1B	0	.	GRCh38	chr2	112559415	112559415	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaagatgaggaccaccAcagtacgcaggctgctgcca	11	6	11	13	1	0	2	0	1	0	1	0	3	0	3	4	2	4	4	4	2	2	2	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.1567A>T	p.Thr523Ser	p.T523S	ENST00000541869	10/16	427	351	76	489	489	0	strelka-varscan-mutect	POLR1B,missense_variant,p.Thr523Ser,ENST00000541869,NM_001282772.1;POLR1B,missense_variant,p.Thr274Ser,ENST00000537335,NM_001282776.1;POLR1B,missense_variant,p.Thr485Ser,ENST00000263331,NM_019014.5;POLR1B,missense_variant,p.Thr429Ser,ENST00000417433,NM_001137604.2,NM_001282779.1,NM_001282777.1;POLR1B,intron_variant,,ENST00000409894,NM_001282774.1;POLR1B,upstream_gene_variant,,ENST00000458012,;POLR1B,downstream_gene_variant,,ENST00000498054,;POLR1B,3_prime_UTR_variant,,ENST00000333990,;POLR1B,intron_variant,,ENST00000448770,;POLR1B,upstream_gene_variant,,ENST00000484574,;	T	ENST00000541869	Transcript	missense_variant	1683/5059	1567/3522	523/1173	T/S	Aca/Tca		1		1	POLR1B	HGNC	HGNC:20454	protein_coding	YES	CCDS62988.1	ENSP00000444136	Q9H9Y6		UPI0002065A70	NM_001282772.1	tolerated(0.22)		10/16		Gene3D:2a6hC02,Pfam_domain:PF04565,hmmpanther:PTHR20856,hmmpanther:PTHR20856:SF5,Superfamily_domains:SSF64484																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	67	112559415	112559415	A	T	1	0	0	0	0	1	0	0	0	12320	159	6	4		4	POLR1B	2	112559415	Missense_Mutation	SNP	A	C3N-01016_TP	14753967	112559415	129634114	63	21632											
HS6ST1	0	.	GRCh38	chr2	128268703	128268703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaactcctgtagcgtgcagCccgaccagtccgtgccctcg	6	8	11	16	4	0	1	0	1	0	0	3	2	2	1	5	0	5	2	5	0	2	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.695G>T	p.Gly232Val	p.G232V	ENST00000259241	2/2	553	470	83	498	497	1	strelka-varscan-mutect	HS6ST1,missense_variant,p.Gly232Val,ENST00000259241,NM_004807.2;HS6ST1,non_coding_transcript_exon_variant,,ENST00000463963,;HS6ST1,intron_variant,,ENST00000469019,;	A	ENST00000259241	Transcript	missense_variant	709/3932	695/1236	232/411	G/V	gGc/gTc		1		-1	HS6ST1	HGNC	HGNC:5201	protein_coding	YES	CCDS42748.1	ENSP00000259241	O60243		UPI0000D61231	NM_004807.2	deleterious(0)		2/2		hmmpanther:PTHR12812:SF1,hmmpanther:PTHR12812,Pfam_domain:PF03567,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	128268703	128268703	C	A	1	0	0	0	0	1	0	0	0	7264	739	26	2		2	HS6ST1	2	128268703	Missense_Mutation	SNP	C	C3N-01016_TP	15709288	128268703	113924826	64	21633											
CCDC74A	0	.	GRCh38	chr2	131531662	131531663	+	Splice_Site	INS	-	-	T																															gacttgcagccaactctcaaINSggcaaggccaggccccagcc																								novel		C3N-01016_TP	C3N-01016_NB	-	-																c.545-2_545-1insT		p.X182_splice	ENST00000295171		73	33	40	65	65	0	sindel-varindel-pindel	CCDC74A,splice_acceptor_variant,,ENST00000295171,NM_138770.2,NM_001258304.1;CCDC74A,splice_acceptor_variant,,ENST00000467992,NM_001258305.1;CCDC74A,splice_acceptor_variant,,ENST00000409856,NM_001258306.1;CCDC74A,splice_acceptor_variant,,ENST00000434330,;CCDC74A,downstream_gene_variant,,ENST00000478665,;CCDC74A,downstream_gene_variant,,ENST00000465939,;CCDC74A,downstream_gene_variant,,ENST00000454549,;CCDC74A,downstream_gene_variant,,ENST00000468650,;MED15P4,downstream_gene_variant,,ENST00000417579,;	T	ENST00000295171	Transcript	splice_acceptor_variant	-/1543	545/1137	182/378				1		1	CCDC74A	HGNC	HGNC:25197	protein_coding	YES	CCDS2167.1	ENSP00000295171	Q96AQ1		UPI000006E43A	NM_138770.2,NM_001258304.1				3/7																		HIGH	1	insertion	1			1										PASS		.	.												T	8	5	67	131531662	131531662	-	T	1	0	1	1	0	0	0	1	0	2547	86	3	0		0	CCDC74A	2	131531662	Splice_Site	INS	-	C3N-01016_TP	3262959	131531662	110661867	65	21634											
ZRANB3	0	.	GRCh38	chr2	135504408	135504408	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttagtctgtcaggcaaaaAatccagcagattatcagatt	14	12	7	8	0	4	2	2	0	2	2	5	2	5	2	1	1	1	2	1	1	5	3	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.82T>G	p.Phe28Val	p.F28V	ENST00000264159	2/21	217	156	61	200	200	0	strelka-varscan-mutect	ZRANB3,missense_variant,p.Phe28Val,ENST00000401392,NM_001286568.1;ZRANB3,missense_variant,p.Phe28Val,ENST00000264159,NM_032143.3;ZRANB3,5_prime_UTR_variant,,ENST00000536680,NM_001286569.1;ZRANB3,intron_variant,,ENST00000452187,;ZRANB3,missense_variant,p.Phe28Val,ENST00000403017,;ZRANB3,non_coding_transcript_exon_variant,,ENST00000492193,;	C	ENST00000264159	Transcript	missense_variant	199/4046	82/3240	28/1079	F/V	Ttt/Gtt		1		-1	ZRANB3	HGNC	HGNC:25249	protein_coding	YES	CCDS46419.1	ENSP00000264159	Q5FWF4		UPI0000509F0C	NM_032143.3	tolerated(0.25)		2/21		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF731,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	67	135504408	135504408	A	C	1	0	0	0	0	1	0	0	0	18817	14	1	5		5	ZRANB3	2	135504408	Missense_Mutation	SNP	A	C3N-01016_TP	3972746	135504408	106689121	66	21635											
LRP1B	0	.	GRCh38	chr2	140526258	140526258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagttcttttcatctgaagCatctgcacaatctatgttct	9	16	6	10	0	6	1	1	1	5	0	6	1	6	1	0	0	2	5	0	0	3	5	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.7855G>T	p.Ala2619Ser	p.A2619S	ENST00000389484	48/91	181	142	39	211	210	1	strelka-varscan-mutect	LRP1B,missense_variant,p.Ala2619Ser,ENST00000389484,NM_018557.2;	A	ENST00000389484	Transcript	missense_variant	8827/16535	7855/13800	2619/4599	A/S	Gct/Tct		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0.03)		48/91		PROSITE_profiles:PS50068,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	140526258	140526258	C	A	1	0	0	0	0	1	0	0	0	8850	710	25	2		2	LRP1B	2	140526258	Missense_Mutation	SNP	C	C3N-01016_TP	5021850	140526258	101667271	67	21636											
NEB	0	.	GRCh38	chr2	151506241	151506241	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagccgttcctggtgagacAtcctctttatataaaacctg	11	13	7	10	1	1	1	0	1	1	1	3	2	3	1	4	1	2	1	4	1	5	6	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.23679T>C	p.=	p.D7893D	ENST00000618972	165/183	96	77	19	97	97	0	strelka-varscan-mutect	NEB,synonymous_variant,p.=,ENST00000618972,NM_001271208.1;NEB,synonymous_variant,p.=,ENST00000397345,NM_001164508.1;NEB,synonymous_variant,p.=,ENST00000427231,NM_001164507.1;NEB,synonymous_variant,p.=,ENST00000603639,;NEB,synonymous_variant,p.=,ENST00000604864,;NEB,synonymous_variant,p.=,ENST00000409198,NM_004543.4;NEB,synonymous_variant,p.=,ENST00000172853,;NEB,synonymous_variant,p.=,ENST00000413693,;NEB,synonymous_variant,p.=,ENST00000397337,;NEB,synonymous_variant,p.=,ENST00000434685,;NEB,synonymous_variant,p.=,ENST00000421461,;NEB,synonymous_variant,p.=,ENST00000424585,;RIF1,non_coding_transcript_exon_variant,,ENST00000467762,;NEB,non_coding_transcript_exon_variant,,ENST00000498015,;RIF1,3_prime_UTR_variant,,ENST00000454583,;	G	ENST00000618972	Transcript	synonymous_variant	23882/26307	23679/25683	7893/8560	D	gaT/gaC		1		-1	NEB	HGNC	HGNC:7720	protein_coding	YES	CCDS74588.1	ENSP00000484342		A0A087X1N7	UPI0004E4CCB0	NM_001271208.1			165/183		PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,Pfam_domain:PF00880,SMART_domains:SM00227																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	67	151506241	151506241	A	G	1	0	0	0	0	0	0	0	1	10326	214	8	5		5	NEB	2	151506241	Silent	SNP	A	C3N-01016_TP	10979983	151506241	90687288	68	21637											
NEB	0	.	GRCh38	chr2	151619696	151619696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccacattatcttggggtCatcgtgtactgctcgggcgc	6	11	13	11	3	2	0	1	0	1	0	4	1	2	1	1	4	2	2	1	4	2	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.10627G>T	p.Asp3543Tyr	p.D3543Y	ENST00000618972	73/183	194	113	81	177	177	0	strelka-varscan-mutect	NEB,missense_variant,p.Asp3543Tyr,ENST00000618972,NM_001271208.1;NEB,missense_variant,p.Asp3543Tyr,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Asp3543Tyr,ENST00000427231,NM_001164507.1;NEB,missense_variant,p.Asp3543Tyr,ENST00000603639,;NEB,missense_variant,p.Asp3543Tyr,ENST00000604864,;NEB,missense_variant,p.Asp3300Tyr,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Asp3300Tyr,ENST00000172853,;NEB,upstream_gene_variant,,ENST00000486320,;	A	ENST00000618972	Transcript	missense_variant	10830/26307	10627/25683	3543/8560	D/Y	Gac/Tac		1		-1	NEB	HGNC	HGNC:7720	protein_coding	YES	CCDS74588.1	ENSP00000484342		A0A087X1N7	UPI0004E4CCB0	NM_001271208.1	deleterious(0)		73/183		PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,Pfam_domain:PF00880,SMART_domains:SM00227																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	67	151619696	151619696	C	A	1	0	0	0	0	1	0	0	0	10326	826	29	2		2	NEB	2	151619696	Missense_Mutation	SNP	C	C3N-01016_TP	113455	151619696	90573833	69	21638											
XIRP2	0	.	GRCh38	chr2	167245989	167245989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catggctctttgaaacaacaCcacttcatgaatttaatgaa	15	12	5	9	0	2	3	1	3	1	0	2	3	2	3	1	1	2	1	1	1	5	4	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.4597C>A	p.Pro1533Thr	p.P1533T	ENST00000409195	9/11	150	100	50	122	122	0	strelka-varscan-mutect	XIRP2,missense_variant,p.Pro1533Thr,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Pro1311Thr,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Pro1358Thr,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	A	ENST00000409195	Transcript	missense_variant	4686/12675	4597/10650	1533/3549	P/T	Cca/Aca		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious(0)		9/11		Pfam_domain:PF08043,PROSITE_profiles:PS51389,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	67	167245989	167245989	C	A	1	0	0	0	0	1	0	0	0	17989	507	18	2		2	XIRP2	2	167245989	Missense_Mutation	SNP	C	C3N-01016_TP	15626293	167245989	74947540	70	21639											
PPIG	0	.	GRCh38	chr2	169637130	169637130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtaaagataggaggagaagGaggagagactcacggagctc	16	4	16	5	1	1	3	1	0	0	3	2	9	1	7	0	5	1	2	0	5	4	2	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1872G>T	p.Arg624Ser	p.R624S	ENST00000260970	14/14	130	112	18	111	111	0	strelka-varscan-mutect	PPIG,missense_variant,p.Arg624Ser,ENST00000260970,NM_004792.2;PPIG,missense_variant,p.Arg609Ser,ENST00000409714,;PPIG,missense_variant,p.Arg624Ser,ENST00000448752,;PPIG,downstream_gene_variant,,ENST00000462903,;PPIG,downstream_gene_variant,,ENST00000433207,;PPIG,downstream_gene_variant,,ENST00000482772,;PPIG,downstream_gene_variant,,ENST00000466142,;	T	ENST00000260970	Transcript	missense_variant	2092/6368	1872/2265	624/754	R/S	agG/agT		1		1	PPIG	HGNC	HGNC:14650	protein_coding	YES	CCDS2235.1	ENSP00000260970	Q13427		UPI000013D124	NM_004792.2	tolerated_low_confidence(0.33)		14/14		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	169637130	169637130	G	T	1	0	0	0	0	1	0	0	0	12435	1165	41	2		2	PPIG	2	169637130	Missense_Mutation	SNP	G	C3N-01016_TP	2391141	169637130	72556399	71	21640											
RAPGEF4	0	.	GRCh38	chr2	172961180	172961180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgaaatgccattctctctcGagcacctcacatgataagag	13	9	7	12	2	3	2	1	1	2	1	5	4	3	2	2	0	2	1	2	0	2	2	rs373393896		C3N-01016_TP	C3N-01016_NB	G	G																c.650G>A	p.Arg217Gln	p.R217Q	ENST00000397081	8/31	122	89	33	119	119	0	strelka-varscan-mutect	RAPGEF4,missense_variant,p.Arg217Gln,ENST00000397081,NM_007023.3;RAPGEF4,missense_variant,p.Arg73Gln,ENST00000397087,NM_001100397.1;RAPGEF4,missense_variant,p.Arg217Gln,ENST00000409036,;RAPGEF4,missense_variant,p.Arg64Gln,ENST00000540783,NM_001282899.1;RAPGEF4,missense_variant,p.Arg46Gln,ENST00000538974,NM_001282900.1;RAPGEF4,5_prime_UTR_variant,,ENST00000535187,NM_001282901.1;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000473043,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000473003,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000466030,;RAPGEF4,upstream_gene_variant,,ENST00000473182,;	A	ENST00000397081	Transcript	missense_variant	793/4299	650/3036	217/1011	R/Q	cGa/cAa	rs373393896,COSM1009618	1		1	RAPGEF4	HGNC	HGNC:16626	protein_coding	YES	CCDS42775.1	ENSP00000380271	Q8WZA2		UPI000006D4C7	NM_007023.3	tolerated(0.4)		8/31		Gene3D:1.10.10.10,PROSITE_profiles:PS50186,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF175,SMART_domains:SM00049,Superfamily_domains:SSF46785											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs373393896	.												A	3	1	67	172961180	172961180	G	A	1	0	0	0	0	1	0	0	0	13205	1058	37	1		1	RAPGEF4	2	172961180	Missense_Mutation	SNP	G	C3N-01016_TP	3324050	172961180	69232349	72	21641											
TTN	0	.	GRCh38	chr2	178559772	178559772	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtctggcttactccacAagacattgggtactggtctt	8	13	10	10	0	2	1	0	0	2	1	3	1	3	1	1	3	2	2	1	3	3	4	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.86360T>G	p.Leu28787Trp	p.L28787W	ENST00000589042	326/363	52	31	21	29	29	0	strelka-varscan-mutect	TTN,missense_variant,p.Leu28787Trp,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Leu27146Trp,ENST00000591111,;TTN,missense_variant,p.Leu27146Trp,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Leu26219Trp,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Leu19722Trp,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Leu19914Trp,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Leu19847Trp,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.3,downstream_gene_variant,,ENST00000624360,;	C	ENST00000589042	Transcript	missense_variant	86585/109224	86360/107976	28787/35991	L/W	tTg/tGg		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			326/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		rs1237283720	.												C	3	2	67	178559772	178559772	A	C	1	0	0	0	0	1	0	0	0	17245	131	5	5		5	TTN	2	178559772	Missense_Mutation	SNP	A	C3N-01016_TP	5598592	178559772	63633757	73	21642											
COL3A1	0	.	GRCh38	chr2	188984860	188984860	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgactcaggatccgtTctctgcgatgacataatatg	9	13	10	9	2	3	2	1	2	2	0	5	4	4	3	1	1	1	1	1	1	2	3	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.180T>A	p.=	p.V60V	ENST00000304636	2/51	385	288	97	359	359	0	strelka-varscan-mutect	COL3A1,synonymous_variant,p.=,ENST00000304636,NM_000090.3;COL3A1,synonymous_variant,p.=,ENST00000317840,;COL3A1,non_coding_transcript_exon_variant,,ENST00000470167,;	A	ENST00000304636	Transcript	synonymous_variant	350/5543	180/4401	60/1466	V	gtT/gtA		1		1	COL3A1	HGNC	HGNC:2201	protein_coding	YES	CCDS2297.1	ENSP00000304408	P02461		UPI0000456EBA	NM_000090.3			2/51		PROSITE_profiles:PS50184,PROSITE_patterns:PS01208,Pfam_domain:PF00093,Gene3D:2.10.70.10,SMART_domains:SM00214,Superfamily_domains:SSF57603																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	67	188984860	188984860	T	A	1	0	0	0	0	0	0	0	1	3477	1770	62	4		4	COL3A1	2	188984860	Silent	SNP	T	C3N-01016_TP	10425088	188984860	53208669	74	21643											
COL3A1	0	.	GRCh38	chr2	189008040	189008040	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatactttcttagggaccTgttggacccagtggacctcc	8	12	10	11	0	1	1	0	1	1	0	2	4	2	4	4	3	1	1	4	3	2	4	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.3423T>G	p.=	p.P1141P	ENST00000304636	47/51	453	333	120	450	450	0	strelka-varscan-mutect	COL3A1,synonymous_variant,p.=,ENST00000304636,NM_000090.3;COL3A1,intron_variant,,ENST00000317840,;COL3A1,upstream_gene_variant,,ENST00000487010,;COL3A1,downstream_gene_variant,,ENST00000467886,;	G	ENST00000304636	Transcript	synonymous_variant	3593/5543	3423/4401	1141/1466	P	ccT/ccG		1		1	COL3A1	HGNC	HGNC:2201	protein_coding	YES	CCDS2297.1	ENSP00000304408	P02461		UPI0000456EBA	NM_000090.3			47/51		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604,Pfam_domain:PF01391																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	67	189008040	189008040	T	G	1	0	0	0	0	0	0	0	1	3477	1594	55	5		5	COL3A1	2	189008040	Silent	SNP	T	C3N-01016_TP	23180	189008040	53185489	75	21644											
SUMO1	0	.	GRCh38	chr2	202207309	202207309	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacttcaatcacatcttcttCctccattcccagctgtaaga	11	13	3	14	0	4	1	2	0	2	1	7	1	7	1	3	0	2	2	3	0	3	5	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.250G>T	p.Glu84Ter	p.E84*	ENST00000392246	5/5	260	171	89	143	143	0	strelka-varscan-mutect	SUMO1,stop_gained,p.Glu84Ter,ENST00000392246,NM_003352.4;SUMO1,stop_gained,p.Glu129Ter,ENST00000409368,;SUMO1,stop_gained,p.Glu84Ter,ENST00000392245,NM_001005781.1;SUMO1,stop_gained,p.Glu59Ter,ENST00000392244,NM_001005782.1;SUMO1,stop_gained,p.Glu45Ter,ENST00000409498,;SUMO1,stop_gained,p.Glu60Ter,ENST00000409712,;SUMO1,stop_gained,p.Glu45Ter,ENST00000409205,;SUMO1,3_prime_UTR_variant,,ENST00000409181,;KIAA2012,downstream_gene_variant,,ENST00000498697,;SUMO1,non_coding_transcript_exon_variant,,ENST00000469034,;SUMO1,3_prime_UTR_variant,,ENST00000409627,;	A	ENST00000392246	Transcript	stop_gained	407/1536	250/306	84/101	E/*	Gaa/Taa		1		-1	SUMO1	HGNC	HGNC:12502	protein_coding	YES	CCDS2352.1	ENSP00000376077	P63165	A0A024R3Z2	UPI0000001227	NM_003352.4			5/5		PROSITE_profiles:PS50053,hmmpanther:PTHR10562,Gene3D:3.10.20.90,Pfam_domain:PF11976,SMART_domains:SM00213,Superfamily_domains:SSF54236																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	67	202207309	202207309	C	A	1	0	0	0	0	0	1	0	0	15773	864	30	2		2	SUMO1	2	202207309	Nonsense_Mutation	SNP	C	C3N-01016_TP	13199269	202207309	39986220	76	21645											
MAP2	0	.	GRCh38	chr2	209695274	209695274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccatccaaaaaggtggAacaaggtctggattttgctg	14	9	11	7	0	1	1	0	0	1	1	2	3	2	3	2	4	3	1	2	4	5	2			C3N-01016_TP	C3N-01016_NB	A	A																c.3104A>G	p.Glu1035Gly	p.E1035G	ENST00000360351	7/15	113	90	23	76	76	0	strelka-varscan-mutect	MAP2,missense_variant,p.Glu1035Gly,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Glu1031Gly,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,NM_031845.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;	G	ENST00000360351	Transcript	missense_variant	3610/9711	3104/5484	1035/1827	E/G	gAa/gGa	COSM5287313	1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3	deleterious_low_confidence(0.04)		7/15		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15,Pfam_domain:PF08377											1						MODERATE	1	SNV	5		1	1										PASS		.	.												G	3	3	67	209695274	209695274	A	G	1	0	0	0	0	1	0	0	0	9157	246	9	5		5	MAP2	2	209695274	Missense_Mutation	SNP	A	C3N-01016_TP	7487965	209695274	32498255	77	21646											
CXCR2	0	.	GRCh38	chr2	218135385	218135385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcatccaatgttagcccagCctgctatgaggacatgggca	10	9	10	12	0	1	1	1	1	0	0	2	2	2	2	3	2	3	3	3	2	3	2	rs200413041		C3N-01016_TP	C3N-01016_NB	C	C																c.584C>A	p.Ala195Asp	p.A195D	ENST00000318507	3/3	229	154	75	154	154	0	strelka-varscan-mutect	CXCR2,missense_variant,p.Ala195Asp,ENST00000318507,NM_001168298.1,NM_001557.3;CXCR2,missense_variant,p.Ala195Asp,ENST00000453237,;CXCR2,downstream_gene_variant,,ENST00000428565,;CXCR2,downstream_gene_variant,,ENST00000454148,;CXCR2,downstream_gene_variant,,ENST00000415392,;CXCR2,downstream_gene_variant,,ENST00000449014,;CXCR2,downstream_gene_variant,,ENST00000418878,;	A	ENST00000318507	Transcript	missense_variant	1011/2879	584/1083	195/360	A/D	gCc/gAc	rs200413041,COSM3043209	1		1	CXCR2	HGNC	HGNC:6027	protein_coding	YES	CCDS2408.1	ENSP00000319635	P25025	Q53PC4	UPI000004358A	NM_001168298.1,NM_001557.3	deleterious(0.01)		3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF632,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs200413041	.												A	3	1	67	218135385	218135385	C	A	1	0	0	0	0	1	0	0	0	3902	739	26	2		2	CXCR2	2	218135385	Missense_Mutation	SNP	C	C3N-01016_TP	8440111	218135385	24058144	78	21647											
PTPRN	0	.	GRCh38	chr2	219301626	219301626	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggcagtagctgcagcAgggtcaggagtgtggagagc	8	7	18	8	0	1	1	1	0	0	1	1	3	1	2	1	4	4	5	1	4	1	2	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.1088T>A	p.Leu363Gln	p.L363Q	ENST00000295718	7/23	108	94	14	129	129	0	strelka-varscan-mutect	PTPRN,missense_variant,p.Leu363Gln,ENST00000295718,NM_002846.3;PTPRN,missense_variant,p.Leu363Gln,ENST00000409251,NM_001199763.1;PTPRN,missense_variant,p.Leu273Gln,ENST00000423636,NM_001199764.1;PTPRN,downstream_gene_variant,,ENST00000446182,;PTPRN,downstream_gene_variant,,ENST00000440552,;PTPRN,downstream_gene_variant,,ENST00000412847,;PTPRN,downstream_gene_variant,,ENST00000442029,;PTPRN,downstream_gene_variant,,ENST00000451506,;AC114803.3,intron_variant,,ENST00000417355,;PTPRN,upstream_gene_variant,,ENST00000497977,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,downstream_gene_variant,,ENST00000606213,;PTPRN,downstream_gene_variant,,ENST00000476930,;PTPRN,upstream_gene_variant,,ENST00000489650,;PTPRN,upstream_gene_variant,,ENST00000486480,;	T	ENST00000295718	Transcript	missense_variant	1329/3784	1088/2940	363/979	L/Q	cTg/cAg		1		-1	PTPRN	HGNC	HGNC:9676	protein_coding	YES	CCDS2440.1	ENSP00000295718	Q16849		UPI0000132999	NM_002846.3	tolerated(0.18)		7/23		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	219301626	219301626	A	T	1	0	0	0	0	1	0	0	0	12961	188	7	4		4	PTPRN	2	219301626	Missense_Mutation	SNP	A	C3N-01016_TP	1166241	219301626	22891903	79	21648											
OBSL1	0	.	GRCh38	chr2	219567526	219567526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccgtgttcttgtggccCttgaacatctctgccaatat	8	13	9	11	1	2	1	0	1	2	0	3	2	2	2	3	2	2	1	3	2	3	4	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1584G>T	p.Lys528Asn	p.K528N	ENST00000404537	4/21	136	128	8	130	130	0	strelka-varscan-mutect	OBSL1,missense_variant,p.Lys528Asn,ENST00000404537,NM_015311.2;OBSL1,missense_variant,p.Lys528Asn,ENST00000603926,NM_001173431.1;OBSL1,missense_variant,p.Lys528Asn,ENST00000373876,;OBSL1,missense_variant,p.Lys528Asn,ENST00000373873,NM_001173408.1;OBSL1,missense_variant,p.Lys115Asn,ENST00000289656,;INHA,upstream_gene_variant,,ENST00000243786,NM_002191.3;INHA,upstream_gene_variant,,ENST00000489456,;OBSL1,downstream_gene_variant,,ENST00000491370,;OBSL1,downstream_gene_variant,,ENST00000465589,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,upstream_gene_variant,,ENST00000462385,;	A	ENST00000404537	Transcript	missense_variant	1641/5841	1584/5691	528/1896	K/N	aaG/aaT		1		-1	OBSL1	HGNC	HGNC:29092	protein_coding	YES	CCDS46520.1	ENSP00000385636	O75147		UPI0000E07EA0	NM_015311.2	tolerated(0.1)		4/21		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Superfamily_domains:SSF48726,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs1424872527	.												A	3	1	67	219567526	219567526	C	A	1	0	0	0	0	1	0	0	0	10890	680	24	2		2	OBSL1	2	219567526	Missense_Mutation	SNP	C	C3N-01016_TP	265900	219567526	22626003	80	21649											
SPHKAP	0	.	GRCh38	chr2	228017612	228017612	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caggaatgctttcgcagctgGaggccttcagccggctccac	7	8	12	14	2	1	0	1	0	0	0	3	2	2	2	3	4	3	4	3	4	1	2	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.3242C>G	p.Ser1081Cys	p.S1081C	ENST00000392056	7/12	126	78	48	148	148	0	strelka-varscan-mutect	SPHKAP,missense_variant,p.Ser1081Cys,ENST00000392056,NM_001142644.1;SPHKAP,missense_variant,p.Ser1081Cys,ENST00000344657,NM_030623.3;	C	ENST00000392056	Transcript	missense_variant	3289/6917	3242/5103	1081/1700	S/C	tCc/tGc		1		-1	SPHKAP	HGNC	HGNC:30619	protein_coding	YES	CCDS46537.1	ENSP00000375909	Q2M3C7		UPI0000411D7E	NM_001142644.1	deleterious(0)		7/12		hmmpanther:PTHR10226:SF7,hmmpanther:PTHR10226																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	67	228017612	228017612	G	C	1	0	0	0	0	1	0	0	0	15399	1174	41	4		4	SPHKAP	2	228017612	Missense_Mutation	SNP	G	C3N-01016_TP	8450086	228017612	14175917	81	21650											
GBX2	0	.	GRCh38	chr2	236166178	236166178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtggaactccttctctagCtccagcagctgctcgctggt	6	11	10	14	1	1	0	0	0	1	0	5	1	3	1	2	2	5	5	2	2	2	2	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.783G>T	p.Glu261Asp	p.E261D	ENST00000306318	2/2	189	125	64	211	211	0	strelka-varscan-mutect	GBX2,missense_variant,p.Glu261Asp,ENST00000306318,NM_001485.3;GBX2,3_prime_UTR_variant,,ENST00000551105,NM_001301687.1;AC079135.1,upstream_gene_variant,,ENST00000483218,;AC079135.1,upstream_gene_variant,,ENST00000415226,;GBX2,non_coding_transcript_exon_variant,,ENST00000465889,;	A	ENST00000306318	Transcript	missense_variant	1181/2123	783/1047	261/348	E/D	gaG/gaT		1		-1	GBX2	HGNC	HGNC:4186	protein_coding	YES	CCDS2515.1	ENSP00000302251	P52951		UPI000012B273	NM_001485.3	deleterious(0)		2/2		PROSITE_profiles:PS50071,hmmpanther:PTHR24334,hmmpanther:PTHR24334:SF3,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		rs1177420598	.												A	3	1	67	236166178	236166178	C	A	1	0	0	0	0	1	0	0	0	6151	796	28	2		2	GBX2	2	236166178	Missense_Mutation	SNP	C	C3N-01016_TP	8148566	236166178	6027351	82	21651											
BTD	0	.	GRCh38	chr3	15644571	15644571	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgataccccctttgctggcAggtttggcatcttcacatgc	6	14	9	12	0	2	1	1	1	1	0	2	1	2	1	2	3	3	4	2	3	1	5	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.721A>T	p.Arg241Trp	p.R241W	ENST00000437172	6/6	325	192	133	342	342	0	strelka-varscan-mutect	BTD,missense_variant,p.Arg219Trp,ENST00000383778,NM_001281725.1;BTD,missense_variant,p.Arg241Trp,ENST00000437172,NM_001281724.1;BTD,missense_variant,p.Arg239Trp,ENST00000303498,NM_000060.3;BTD,missense_variant,p.Arg241Trp,ENST00000449107,NM_001281723.1;BTD,missense_variant,p.Arg219Trp,ENST00000436193,;BTD,downstream_gene_variant,,ENST00000482824,;	T	ENST00000437172	Transcript	missense_variant	953/2097	721/1638	241/545	R/W	Agg/Tgg		1		1	BTD	HGNC	HGNC:1122	protein_coding	YES	CCDS63564.1	ENSP00000400995	P43251		UPI00017A7026	NM_001281724.1	deleterious(0)		6/6		Gene3D:3.60.110.10,Pfam_domain:PF00795,PIRSF_domain:PIRSF011861,PROSITE_profiles:PS50263,hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF17,Superfamily_domains:SSF56317																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	67	15644571	15644571	A	T	1	0	0	0	0	1	0	0	0	1726	179	7	4		4	BTD	3	15644571	Missense_Mutation	SNP	A	C3N-01016_TP		15644571	182650988	83	21652											
ALS2CL	0	.	GRCh38	chr3	46678265	46678265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggcactcacctcttgCaggtactgctcgggtctggt	5	10	13	13	1	3	0	1	0	2	0	4	0	3	0	2	5	3	4	2	5	1	2	rs774616995		C3N-01016_TP	C3N-01016_NB	C	C																c.1751G>T	p.Cys584Phe	p.C584F	ENST00000318962	16/26	45	29	16	42	42	0	strelka-varscan-mutect	ALS2CL,missense_variant,p.Cys584Phe,ENST00000318962,NM_147129.3;ALS2CL,missense_variant,p.Cys584Phe,ENST00000415953,NM_001190707.1;ALS2CL,upstream_gene_variant,,ENST00000383742,NM_182775.2;ALS2CL,upstream_gene_variant,,ENST00000473484,;ALS2CL,3_prime_UTR_variant,,ENST00000423707,;ALS2CL,3_prime_UTR_variant,,ENST00000434140,;ALS2CL,non_coding_transcript_exon_variant,,ENST00000450172,;ALS2CL,non_coding_transcript_exon_variant,,ENST00000431015,;ALS2CL,upstream_gene_variant,,ENST00000486301,;ALS2CL,upstream_gene_variant,,ENST00000498817,;	A	ENST00000318962	Transcript	missense_variant	1835/4741	1751/2862	584/953	C/F	tGc/tTc	rs774616995	1		-1	ALS2CL	HGNC	HGNC:20605	protein_coding	YES	CCDS2743.1	ENSP00000313670	Q60I27	A0A024R2U1	UPI00001B5641	NM_147129.3	tolerated(0.07)		16/26		hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF164																	MODERATE	1	SNV	1			1										PASS		rs774616995	.												A	3	1	67	46678265	46678265	C	A	1	0	0	0	0	1	0	0	0	651	710	25	2		2	ALS2CL	3	46678265	Missense_Mutation	SNP	C	C3N-01016_TP	31033694	46678265	151617294	84	21653											
CACNA2D3	0	.	GRCh38	chr3	54871614	54871614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggagtgggaagaccgaGatgacgtggtaagtgatttg	11	9	18	3	2	0	4	0	2	0	2	0	7	0	6	1	4	0	1	1	4	2	2	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1702G>T	p.Asp568Tyr	p.D568Y	ENST00000474759	18/38	63	51	12	110	110	0	strelka-varscan-mutect	CACNA2D3,missense_variant,p.Asp568Tyr,ENST00000474759,NM_018398.2;CACNA2D3,missense_variant,p.Asp568Tyr,ENST00000288197,;CACNA2D3,missense_variant,p.Asp568Tyr,ENST00000415676,;CACNA2D3,missense_variant,p.Asp474Tyr,ENST00000490478,;CACNA2D3,missense_variant,p.Asp468Tyr,ENST00000620722,;CACNA2D3-AS1,downstream_gene_variant,,ENST00000471265,;CACNA2D3,missense_variant,p.Asp468Tyr,ENST00000471363,;CACNA2D3,missense_variant,p.Asp474Tyr,ENST00000477024,;CACNA2D3,3_prime_UTR_variant,,ENST00000468658,;	T	ENST00000474759	Transcript	missense_variant	1750/3675	1702/3276	568/1091	D/Y	Gat/Tat		1		1	CACNA2D3	HGNC	HGNC:15460	protein_coding	YES	CCDS54598.1	ENSP00000419101	Q8IZS8		UPI000004A7BF	NM_018398.2	deleterious(0)		18/38		hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF25																	MODERATE	1	SNV	1			1										PASS		rs1422207990	.												T	3	4	67	54871614	54871614	G	T	1	0	0	0	0	1	0	0	0	2238	942	33	2		2	CACNA2D3	3	54871614	Missense_Mutation	SNP	G	C3N-01016_TP	8193349	54871614	143423945	85	21654											
EPHA6	0	.	GRCh38	chr3	97475398	97475398	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattctcgtgatagccacCgccgctgttggcggattcac	7	10	11	13	4	2	2	1	1	1	1	3	3	2	3	3	2	1	2	3	2	1	4	rs16838751		C3N-01016_TP	C3N-01016_NB	C	C																c.1941C>G	p.=	p.T647T	ENST00000389672	8/18	146	91	55	187	187	0	strelka-varscan-mutect	EPHA6,synonymous_variant,p.=,ENST00000389672,NM_001080448.2;EPHA6,synonymous_variant,p.=,ENST00000514100,NM_001278300.1;EPHA6,synonymous_variant,p.=,ENST00000502694,NM_173655.3;EPHA6,synonymous_variant,p.=,ENST00000477384,;EPHA6,synonymous_variant,p.=,ENST00000503760,;EPHA6,synonymous_variant,p.=,ENST00000508345,;	G	ENST00000389672	Transcript	synonymous_variant	1979/3971	1941/3393	647/1130	T	acC/acG	rs16838751	1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2			8/18		Pfam_domain:PF14575,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		rs16838751	.												G	2	3	67	97475398	97475398	C	G	1	0	0	0	0	0	0	0	1	5018	639	23	4		4	EPHA6	3	97475398	Silent	SNP	C	C3N-01016_TP	42603784	97475398	100820161	86	21655											
RETNLB	0	.	GRCh38	chr3	108755798	108755798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtcaggtggcagcagcGggcagtggtccagtccacca	8	6	15	12	1	2	0	2	0	0	0	4	0	4	0	3	5	2	3	3	5	0	0	rs148724960		C3N-01016_TP	C3N-01016_NB	G	G																c.316C>A	p.Arg106Ser	p.R106S	ENST00000295755	3/3	95	52	43	127	127	0	strelka-varscan-mutect	RETNLB,missense_variant,p.Arg106Ser,ENST00000295755,NM_032579.2;RETNLB,intron_variant,,ENST00000482939,;	T	ENST00000295755	Transcript	missense_variant	515/676	316/336	106/111	R/S	Cgc/Agc	rs148724960	1		-1	RETNLB	HGNC	HGNC:20388	protein_coding	YES	CCDS2953.1	ENSP00000295755	Q9BQ08		UPI00000015BE	NM_032579.2	deleterious(0)		3/3		Pfam_domain:PF06954,hmmpanther:PTHR21101,hmmpanther:PTHR21101:SF13,Superfamily_domains:SSF111423																	MODERATE	1	SNV	1			1										PASS		rs148724960	.												T	3	4	67	108755798	108755798	G	T	1	0	0	0	0	1	0	0	0	13408	1116	39	1		1	RETNLB	3	108755798	Missense_Mutation	SNP	G	C3N-01016_TP	11280400	108755798	89539761	87	21656											
PARP14	0	.	GRCh38	chr3	122701633	122701633	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagagggtgtgcagaatgctAaggtgagtgtcgcttttaca	11	11	14	5	1	0	3	0	1	0	2	1	3	0	3	0	2	3	3	0	2	4	3	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.3079A>T	p.Lys1027Ter	p.K1027*	ENST00000474629	6/17	45	26	19	35	35	0	strelka-varscan-mutect	PARP14,stop_gained,p.Lys1027Ter,ENST00000474629,NM_017554.2;PARP14,stop_gained,p.Lys868Ter,ENST00000460683,;PARP14,splice_region_variant,,ENST00000474669,;	T	ENST00000474629	Transcript	stop_gained,splice_region_variant	3345/7915	3079/5406	1027/1801	K/*	Aag/Tag		1		1	PARP14	HGNC	HGNC:29232	protein_coding	YES	CCDS46894.1	ENSP00000418194	Q460N5		UPI00015A20AB	NM_017554.2			6/17		PROSITE_profiles:PS51154,hmmpanther:PTHR14453:SF65,hmmpanther:PTHR14453,Gene3D:3.40.220.10,SMART_domains:SM00506,Superfamily_domains:SSF52949																	HIGH	1	SNV	2			1										PASS		rs1231106782	.												T	4	4	67	122701633	122701633	A	T	1	0	0	0	0	0	1	0	0	11538	376	13	4		4	PARP14	3	122701633	Nonsense_Mutation	SNP	A	C3N-01016_TP	13945835	122701633	75593926	88	21657											
COL6A6	0	.	GRCh38	chr3	130565384	130565385	+	Frame_Shift_Ins	INS	-	-	A																															gaagacaacgtgacaaaagcINSagctgttaacctccgacggg																								novel		C3N-01016_TP	C3N-01016_NB	-	-																c.1053dupA	p.Ala352SerfsTer3	p.A352Sfs*3	ENST00000358511	3/36	288	268	20	275	275	0	varindel-pindel	COL6A6,frameshift_variant,p.Ala352SerfsTer3,ENST00000358511,NM_001102608.1;	A	ENST00000358511	Transcript	frameshift_variant	1083-1084/9581	1052-1053/6792	351/2263	A/AX	gca/gcAa		1		1	COL6A6	HGNC	HGNC:27023	protein_coding	YES	CCDS46911.1	ENSP00000351310	A6NMZ7		UPI00015B6548	NM_001102608.1			3/36		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,SMART_domains:SM00327,Superfamily_domains:SSF53300																	HIGH	1	insertion	5	1		1										PASS		.	.												A	7	5	67	130565384	130565384	-	A	1	0	1	1	0	0	0	0	0	3492	710	25	0		0	COL6A6	3	130565384	Frame_Shift_Ins	INS	-	C3N-01016_TP	7863751	130565384	67730175	89	21658											
TOPBP1	0	.	GRCh38	chr3	133628592	133628592	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctttcagttgagggcTggcagaaagagcgacagcat	10	8	14	9	1	2	3	1	1	1	2	2	4	2	3	1	3	2	4	1	3	1	2	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.2662A>T	p.Ser888Cys	p.S888C	ENST00000260810	15/28	146	83	63	141	141	0	strelka-varscan-mutect	TOPBP1,missense_variant,p.Ser888Cys,ENST00000260810,NM_007027.3;TOPBP1,non_coding_transcript_exon_variant,,ENST00000506779,;TOPBP1,upstream_gene_variant,,ENST00000513818,;	A	ENST00000260810	Transcript	missense_variant	2794/5378	2662/4569	888/1522	S/C	Agc/Tgc		1		-1	TOPBP1	HGNC	HGNC:17008	protein_coding	YES	CCDS46919.1	ENSP00000260810	Q92547		UPI000020A292	NM_007027.3	deleterious(0)		15/28		hmmpanther:PTHR13561:SF32,hmmpanther:PTHR13561																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	133628592	133628592	T	A	1	0	0	0	0	1	0	0	0	16846	1580	55	4		4	TOPBP1	3	133628592	Missense_Mutation	SNP	T	C3N-01016_TP	3063208	133628592	64666967	90	21659											
ATR	0	.	GRCh38	chr3	142555929	142555929	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtaggaaaaggaatggcttGcagacagaagcttttagttg	14	10	13	4	0	0	2	0	0	0	2	0	4	0	4	0	3	2	5	0	3	6	5	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.2289C>G	p.Cys763Trp	p.C763W	ENST00000350721	10/47	102	41	61	77	77	0	strelka-varscan-mutect	ATR,missense_variant,p.Cys763Trp,ENST00000350721,NM_001184.3;ATR,downstream_gene_variant,,ENST00000515149,;ATR,downstream_gene_variant,,ENST00000507148,;ATR,downstream_gene_variant,,ENST00000515863,;	C	ENST00000350721	Transcript	missense_variant	2411/8249	2289/7935	763/2644	C/W	tgC/tgG		1		-1	ATR	HGNC	HGNC:882	protein_coding	YES	CCDS3124.1	ENSP00000343741	Q13535		UPI0000031A31	NM_001184.3	deleterious(0.01)		10/47		Gene3D:1.25.10.10,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF69,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs1362094246	.												C	3	2	67	142555929	142555929	G	C	1	0	0	0	0	1	0	0	0	1356	1311	46	4		4	ATR	3	142555929	Missense_Mutation	SNP	G	C3N-01016_TP	8927337	142555929	55739630	91	21660											
PLSCR5	0	.	GRCh38	chr3	146589761	146589761	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacatcatttacaaatccTgaccagtactttgaaatctt	15	13	4	9	0	2	3	1	2	1	1	3	3	3	3	2	0	2	1	2	0	5	5	rs377510646		C3N-01016_TP	C3N-01016_NB	T	T																c.669A>C	p.=	p.S223S	ENST00000443512	6/8	145	86	59	96	96	0	strelka-varscan-mutect	PLSCR5,synonymous_variant,p.=,ENST00000443512,NM_001085420.1;PLSCR5,synonymous_variant,p.=,ENST00000492200,;PLSCR5,synonymous_variant,p.=,ENST00000482567,;PLSCR5-AS1,non_coding_transcript_exon_variant,,ENST00000473817,;	G	ENST00000443512	Transcript	synonymous_variant	1673/1969	669/816	223/271	S	tcA/tcC	rs377510646	1		-1	PLSCR5	HGNC	HGNC:19952	protein_coding	YES	CCDS46931.1	ENSP00000390111	A0PG75		UPI0000425F34	NM_001085420.1			6/8		Pfam_domain:PF03803,hmmpanther:PTHR23248,hmmpanther:PTHR23248:SF25,Superfamily_domains:SSF54518																	LOW	1	SNV	1			1										PASS		rs377510646	.												G	2	3	67	146589761	146589761	T	G	1	0	0	0	0	0	0	0	1	12220	1567	55	5		5	PLSCR5	3	146589761	Silent	SNP	T	C3N-01016_TP	4033832	146589761	51705798	92	21661											
PEX5L	0	.	GRCh38	chr3	179887684	179887684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaattaccagctgtattgGatgttactggccttgctatt	9	15	10	7	0	0	1	0	0	0	1	0	3	0	2	2	2	4	4	2	2	5	7	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.299C>A	p.Ser100Tyr	p.S100Y	ENST00000467460	4/15	127	90	37	125	125	0	strelka-varscan-mutect	PEX5L,missense_variant,p.Ser100Tyr,ENST00000467460,NM_016559.2;PEX5L,missense_variant,p.Ser57Tyr,ENST00000392649,;PEX5L,missense_variant,p.Ser65Tyr,ENST00000485199,NM_001256752.1;PEX5L,missense_variant,p.Ser98Tyr,ENST00000263962,NM_001256750.1;PEX5L,missense_variant,p.Ser57Tyr,ENST00000476138,NM_001256754.1;PEX5L,missense_variant,p.Ser41Tyr,ENST00000472994,NM_001256753.1;PEX5L,missense_variant,p.Ser76Tyr,ENST00000465751,NM_001256751.1;PEX5L,missense_variant,p.Ser57Tyr,ENST00000464614,NM_001256755.1;PEX5L,missense_variant,p.Ser124Tyr,ENST00000463761,;PEX5L,missense_variant,p.Ser89Tyr,ENST00000469198,;PEX5L,5_prime_UTR_variant,,ENST00000468741,NM_001256756.1;PEX5L,5_prime_UTR_variant,,ENST00000491640,;PEX5L,5_prime_UTR_variant,,ENST00000496721,;PEX5L,non_coding_transcript_exon_variant,,ENST00000467440,;PEX5L,non_coding_transcript_exon_variant,,ENST00000487198,;	T	ENST00000467460	Transcript	missense_variant	630/9082	299/1881	100/626	S/Y	tCc/tAc		1		-1	PEX5L	HGNC	HGNC:30024	protein_coding	YES	CCDS3236.1	ENSP00000419975	Q8IYB4		UPI0000049CE2	NM_016559.2	deleterious_low_confidence(0)		4/15		hmmpanther:PTHR10130,hmmpanther:PTHR10130:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	179887684	179887684	G	T	1	0	0	0	0	1	0	0	0	11839	1174	41	2		2	PEX5L	3	179887684	Missense_Mutation	SNP	G	C3N-01016_TP	33297923	179887684	18407875	93	21662											
YEATS2	0	.	GRCh38	chr3	183721956	183721956	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatttttggaatcaccAtctaggtcatcatctcctgc	12	13	6	10	0	5	1	3	0	2	1	6	2	5	2	2	2	1	0	2	2	4	3	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.357A>T	p.=	p.P119P	ENST00000305135	5/31	273	157	116	246	246	0	strelka-varscan-mutect	YEATS2,synonymous_variant,p.=,ENST00000305135,NM_018023.4;	T	ENST00000305135	Transcript	synonymous_variant	552/6506	357/4269	119/1422	P	ccA/ccT		1		1	YEATS2	HGNC	HGNC:25489	protein_coding	YES	CCDS43175.1	ENSP00000306983	Q9ULM3		UPI00001BB2B9	NM_018023.4			5/31		hmmpanther:PTHR23195:SF7,hmmpanther:PTHR23195																	LOW	1	SNV	1			1										PASS		rs1327233759	.												T	2	4	67	183721956	183721956	A	T	1	0	0	0	0	0	0	0	1	18034	204	8	4		4	YEATS2	3	183721956	Silent	SNP	A	C3N-01016_TP	3834272	183721956	14573603	94	21663											
POLR2H	0	.	GRCh38	chr3	184368219	184368219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgctcatgaggctgcaGggggatgccaacaacctgca	9	6	14	12	0	1	1	1	1	0	0	1	2	1	2	3	4	6	4	3	4	2	0	rs780161088		C3N-01016_TP	C3N-01016_NB	G	G																c.442G>T	p.Gly148Trp	p.G148W	ENST00000429568	5/5	97	51	46	125	125	0	strelka-varscan-mutect	POLR2H,missense_variant,p.Gln126His,ENST00000456318,NM_006232.3;POLR2H,missense_variant,p.Gln98His,ENST00000430783,NM_001278714.1;POLR2H,missense_variant,p.Gln90His,ENST00000438240,NM_001278700.1;POLR2H,missense_variant,p.Gly148Trp,ENST00000429568,NM_001278698.1;POLR2H,missense_variant,p.Gln126His,ENST00000455712,;POLR2H,missense_variant,p.Gln62His,ENST00000443489,NM_001278715.1;POLR2H,missense_variant,p.Gln90His,ENST00000452961,NM_001278699.1;THPO,downstream_gene_variant,,ENST00000204615,NM_000460.3,NM_001289998.1,NM_001290028.1;THPO,downstream_gene_variant,,ENST00000445696,NM_001177598.2,NM_001290022.1,NM_001177597.2,NM_001290026.1;THPO,downstream_gene_variant,,ENST00000421442,NM_001289997.1,NM_001290027.1;POLR2H,downstream_gene_variant,,ENST00000412877,;POLR2H,downstream_gene_variant,,ENST00000460083,;THPO,downstream_gene_variant,,ENST00000477594,;POLR2H,non_coding_transcript_exon_variant,,ENST00000488213,;POLR2H,non_coding_transcript_exon_variant,,ENST00000476003,;POLR2H,non_coding_transcript_exon_variant,,ENST00000489043,;POLR2H,downstream_gene_variant,,ENST00000490958,;	T	ENST00000429568	Transcript	missense_variant	501/878	442/528	148/175	G/W	Ggg/Tgg	rs780161088,COSM4613097	1		1	POLR2H	HGNC	HGNC:9195	protein_coding	YES	CCDS63859.1	ENSP00000415536	P52434		UPI000198CBDF	NM_001278698.1	deleterious_low_confidence(0)		5/5													0,1						MODERATE		SNV	2		0,1	1										PASS		rs780161088	.												T	3	4	67	184368219	184368219	G	T	1	0	0	0	0	1	0	0	0	12331	1000	35	2		2	POLR2H	3	184368219	Missense_Mutation	SNP	G	C3N-01016_TP	646263	184368219	13927340	95	21664											
PAK2	0	.	GRCh38	chr3	196803031	196803031	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttagggcatgccagaacaGtgggctcgattactacagac	11	9	12	9	1	0	2	0	0	0	2	1	3	0	2	1	2	4	3	1	2	4	3	rs201465227		C3N-01016_TP	C3N-01016_NB	G	G																c.303G>C	p.Gln101His	p.Q101H	ENST00000327134	4/15	71	66	5	74	74	0	varscan-mutect	PAK2,missense_variant,p.Gln101His,ENST00000327134,NM_002577.4;PAK2,upstream_gene_variant,,ENST00000481344,;	C	ENST00000327134	Transcript	missense_variant	625/6139	303/1575	101/524	Q/H	caG/caC	rs201465227	1		1	PAK2	HGNC	HGNC:8591	protein_coding	YES	CCDS3321.1	ENSP00000314067	Q13177		UPI0000141B02	NM_002577.4	deleterious(0.02)		4/15		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF250,Pfam_domain:PF00786,Gene3D:3.90.810.10,SMART_domains:SM00285																	MODERATE	1	SNV	2			1										PASS		rs201465227	.												C	3	2	67	196803031	196803031	G	C	1	0	0	0	0	1	0	0	0	11481	1020	36	4		4	PAK2	3	196803031	Missense_Mutation	SNP	G	C3N-01016_TP	12434812	196803031	1492528	96	21665											
RUBCN	0	.	GRCh38	chr3	197683403	197683403	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggagccccatggccacCgcctcagcagacgtggagtg	8	6	13	14	2	2	1	2	0	0	1	2	3	2	3	5	3	2	1	5	3	0	1	rs765574552		C3N-01016_TP	C3N-01016_NB	C	C																c.1884G>T	p.=	p.A628A	ENST00000296343	13/20	233	167	66	299	298	1	strelka-varscan-mutect	RUBCN,synonymous_variant,p.=,ENST00000273582,NM_001145642.3;RUBCN,synonymous_variant,p.=,ENST00000413360,;RUBCN,synonymous_variant,p.=,ENST00000296343,NM_014687.2;RUBCN,synonymous_variant,p.=,ENST00000415452,;RUBCN,non_coding_transcript_exon_variant,,ENST00000471364,;	A	ENST00000296343	Transcript	synonymous_variant	1884/2919	1884/2919	628/972	A	gcG/gcT	rs765574552	1		-1	RUBCN	HGNC	HGNC:28991	protein_coding	YES	CCDS43195.1	ENSP00000296343	Q92622		UPI00001C1DE4	NM_014687.2			13/20		hmmpanther:PTHR12326:SF11,hmmpanther:PTHR12326																	LOW	1	SNV	2			1										PASS		rs765574552	.												A	2	1	67	197683403	197683403	C	A	1	0	0	0	0	0	0	0	1	13999	639	23	1		1	RUBCN	3	197683403	Silent	SNP	C	C3N-01016_TP	880372	197683403	612156	97	21666											
EVC	0	.	GRCh38	chr4	5753918	5753918	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccagccgactgctgacccGgaaaagtttctcgaggtgac	9	7	12	13	3	1	2	0	2	1	0	2	5	1	3	3	2	2	2	3	2	2	1	rs775819388		C3N-01016_TP	C3N-01016_NB	G	G																c.1449G>T	p.=	p.P483P	ENST00000264956	10/21	439	301	138	449	448	1	strelka-varscan-mutect	EVC,synonymous_variant,p.=,ENST00000264956,NM_001306090.1,NM_153717.2;EVC,synonymous_variant,p.=,ENST00000509451,NM_001306092.1;EVC,non_coding_transcript_exon_variant,,ENST00000514919,;CRMP1,intron_variant,,ENST00000506216,;	T	ENST00000264956	Transcript	synonymous_variant	1633/6431	1449/2979	483/992	P	ccG/ccT	rs775819388,COSM3302184	1		1	EVC	HGNC	HGNC:3497	protein_coding	YES	CCDS3383.1	ENSP00000264956	P57679		UPI000012A2A5	NM_001306090.1,NM_153717.2			10/21		hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF13											0,1						LOW	1	SNV	1		0,1	1										PASS		rs775819388	.												T	2	4	67	5753918	5753918	G	T	1	0	0	0	0	0	0	0	1	5152	1103	39	1		1	EVC	4	5753918	Silent	SNP	G	C3N-01016_TP		5753918	184460637	98	21667											
PPP2R2C	0	.	GRCh38	chr4	6372536	6372536	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatactgaagctcctgtcGgtgatggccaggtgccagag	9	8	15	9	1	0	3	0	2	0	1	2	4	1	4	3	4	3	1	3	4	2	1	rs35410672		C3N-01016_TP	C3N-01016_NB	G	G																c.612C>T	p.=	p.T204T	ENST00000335585	5/9	87	57	30	85	85	0	strelka-varscan-mutect	PPP2R2C,synonymous_variant,p.=,ENST00000335585,NM_181876.2;PPP2R2C,synonymous_variant,p.=,ENST00000515571,NM_001206996.1;PPP2R2C,synonymous_variant,p.=,ENST00000382599,NM_020416.3;PPP2R2C,synonymous_variant,p.=,ENST00000506140,NM_001206994.1;PPP2R2C,synonymous_variant,p.=,ENST00000507294,NM_001206995.1;PPP2R2C,non_coding_transcript_exon_variant,,ENST00000314348,;PPP2R2C,non_coding_transcript_exon_variant,,ENST00000513943,;PPP2R2C,downstream_gene_variant,,ENST00000509917,;	A	ENST00000335585	Transcript	synonymous_variant	636/4092	612/1344	204/447	T	acC/acT	rs35410672,COSM3780315,COSM3780316	1		-1	PPP2R2C	HGNC	HGNC:9306	protein_coding	YES	CCDS3388.1	ENSP00000335083	Q9Y2T4		UPI0000140CE7	NM_181876.2			5/9		Gene3D:2.130.10.10,PIRSF_domain:PIRSF037309,Prints_domain:PR00600,hmmpanther:PTHR11871,hmmpanther:PTHR11871:SF5,Superfamily_domains:SSF50978											0,1,1						LOW	1	SNV	2		0,1,1	1										PASS		rs35410672	.												A	2	1	67	6372536	6372536	G	A	1	0	0	0	0	0	0	0	1	12509	1103	39	1		1	PPP2R2C	4	6372536	Silent	SNP	G	C3N-01016_TP	618618	6372536	183842019	99	21668											
BOD1L1	0	.	GRCh38	chr4	13614714	13614714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtttctgttgaagccCtagcagcactggcttcttgg	6	15	11	9	0	2	2	0	2	2	0	2	2	2	2	1	2	3	5	1	2	2	6	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.656G>T	p.Arg219Met	p.R219M	ENST00000040738	4/26	332	231	101	324	324	0	strelka-varscan-mutect	BOD1L1,missense_variant,p.Arg219Met,ENST00000040738,NM_148894.2;BOD1L1,3_prime_UTR_variant,,ENST00000482713,;	A	ENST00000040738	Transcript	missense_variant	792/10565	656/9156	219/3051	R/M	aGg/aTg		1		-1	BOD1L1	HGNC	HGNC:31792	protein_coding	YES	CCDS3411.2	ENSP00000040738	Q8NFC6		UPI000066D9E3	NM_148894.2	deleterious(0)		4/26		Low_complexity_(Seg):seg,hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3																	MODERATE	1	SNV	2			1										PASS		rs1475187596	.												A	3	1	67	13614714	13614714	C	A	1	0	0	0	0	1	0	0	0	1639	681	24	2		2	BOD1L1	4	13614714	Missense_Mutation	SNP	C	C3N-01016_TP	7242178	13614714	176599841	100	21669											
ADAMTS3	0	.	GRCh38	chr4	72323098	72323098	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtaaatttcattcacCtagcaacaaaaaaagataat	19	11	4	7	0	3	1	3	0	0	1	3	1	3	1	1	1	2	2	1	1	8	5	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.862-1G>T		p.X288_splice	ENST00000286657		128	73	55	135	134	1	strelka-varscan	ADAMTS3,splice_acceptor_variant,,ENST00000286657,;ADAMTS3,splice_acceptor_variant,,ENST00000622135,NM_014243.2;RP11-373J21.1,non_coding_transcript_exon_variant,,ENST00000503918,;	A	ENST00000286657	Transcript	splice_acceptor_variant	-/6409	862/3618	288/1205				1		-1	ADAMTS3	HGNC	HGNC:219	protein_coding	YES	CCDS3553.1	ENSP00000286657	O15072		UPI00001AEAEA					5/21																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	67	72323098	72323098	C	A	1	0	0	0	0	0	0	1	0	311	695	24	2		2	ADAMTS3	4	72323098	Splice_Site	SNP	C	C3N-01016_TP	58708384	72323098	117891457	101	21670											
CENPE	0	.	GRCh38	chr4	103196205	103196205	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcgatgattggtgctgctaTttcttcatacacatttttgg	8	18	8	7	1	2	1	1	1	1	0	3	2	2	1	0	2	3	2	0	2	2	7	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.196A>G	p.Ile66Val	p.I66V	ENST00000265148	3/49	150	122	28	122	122	0	strelka-varscan-mutect	CENPE,missense_variant,p.Ile66Val,ENST00000265148,NM_001813.2;CENPE,missense_variant,p.Ile66Val,ENST00000611174,;CENPE,missense_variant,p.Ile66Val,ENST00000380026,NM_001286734.1;CENPE,missense_variant,p.Ile66Val,ENST00000503705,;CENPE,missense_variant,p.Ile66Val,ENST00000514974,;	C	ENST00000265148	Transcript	missense_variant	286/8612	196/8106	66/2701	I/V	Ata/Gta		1		-1	CENPE	HGNC	HGNC:1856	protein_coding	YES	CCDS34042.1	ENSP00000265148	Q02224		UPI000020B28A	NM_001813.2	tolerated(0.37)		3/49		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF459,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	67	103196205	103196205	T	C	1	0	0	0	0	1	0	0	0	2938	1493	52	5		5	CENPE	4	103196205	Missense_Mutation	SNP	T	C3N-01016_TP	30873107	103196205	87018350	102	21671											
ANK2	0	.	GRCh38	chr4	113341899	113341899	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattttgctgaggtggccAgaagcagggatgtggaggta	12	9	16	4	0	0	2	0	1	0	1	0	4	0	4	1	5	2	3	1	5	4	3	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.4105A>T	p.Arg1369Ter	p.R1369*	ENST00000357077	33/46	241	189	52	274	274	0	strelka-varscan-mutect	ANK2,stop_gained,p.Arg1369Ter,ENST00000357077,NM_001148.4;ANK2,stop_gained,p.Arg1336Ter,ENST00000264366,;ANK2,stop_gained,p.Arg1360Ter,ENST00000506722,NM_001127493.1;ANK2,stop_gained,p.Arg1369Ter,ENST00000394537,NM_020977.3;ANK2,stop_gained,p.Arg1384Ter,ENST00000504454,;ANK2,stop_gained,p.Arg382Ter,ENST00000514960,;ANK2,stop_gained,p.Arg1282Ter,ENST00000503423,;ANK2,stop_gained,p.Arg545Ter,ENST00000509550,;ANK2,stop_gained,p.Arg21Ter,ENST00000510275,;ANK2,stop_gained,p.Arg64Ter,ENST00000504415,;ANK2,downstream_gene_variant,,ENST00000504887,;	T	ENST00000357077	Transcript	stop_gained	4158/14196	4105/11874	1369/3957	R/*	Aga/Tga		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4			33/46		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	67	113341899	113341899	A	T	1	0	0	0	0	0	1	0	0	721	180	7	4		4	ANK2	4	113341899	Nonsense_Mutation	SNP	A	C3N-01016_TP	10145694	113341899	76872656	103	21672											
ANK2	0	.	GRCh38	chr4	113357290	113357290	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacttaccaaaggactgccCctctcaagactcatccatta	13	9	5	14	0	2	1	2	0	1	1	4	3	3	2	4	1	3	0	4	1	5	2			C3N-01016_TP	C3N-01016_NB	C	C																c.8672C>A	p.Pro2891His	p.P2891H	ENST00000357077	38/46	574	338	236	663	662	1	strelka-varscan-mutect	ANK2,missense_variant,p.Pro2891His,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Pro2858His,ENST00000264366,;ANK2,3_prime_UTR_variant,,ENST00000612754,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,upstream_gene_variant,,ENST00000505342,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;	A	ENST00000357077	Transcript	missense_variant	8725/14196	8672/11874	2891/3957	P/H	cCc/cAc	COSM4511392	1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	tolerated_low_confidence(0.27)		38/46		hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	67	113357290	113357290	C	A	1	0	0	0	0	1	0	0	0	721	623	22	2		2	ANK2	4	113357290	Missense_Mutation	SNP	C	C3N-01016_TP	15391	113357290	76857265	104	21673											
RAPGEF2	0	.	GRCh38	chr4	159356147	159356147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagtcccaagggttttccaCcgaggaggatggtatatgca	10	10	12	9	1	1	0	1	0	0	0	3	3	3	2	3	4	1	3	3	4	3	4	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.4463C>T	p.Thr1488Ile	p.T1488I	ENST00000264431	23/24	111	58	53	113	113	0	strelka-varscan-mutect	RAPGEF2,missense_variant,p.Thr1488Ile,ENST00000264431,NM_014247.2;RAPGEF2,downstream_gene_variant,,ENST00000505026,;RAPGEF2,downstream_gene_variant,,ENST00000510253,;RAPGEF2,downstream_gene_variant,,ENST00000509891,;	T	ENST00000264431	Transcript	missense_variant	4882/6949	4463/4500	1488/1499	T/I	aCc/aTc		1		1	RAPGEF2	HGNC	HGNC:16854	protein_coding	YES	CCDS43277.1	ENSP00000264431	Q9Y4G8		UPI0000033783	NM_014247.2	deleterious_low_confidence(0.02)		23/24																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	159356147	159356147	C	T	1	0	0	0	0	1	0	0	0	13203	507	18	3		3	RAPGEF2	4	159356147	Missense_Mutation	SNP	C	C3N-01016_TP	45998857	159356147	30858408	105	21674											
CTNND2	0	.	GRCh38	chr5	11397065	11397065	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgtagctcgggcttgtGtgcctcgggccgggagctgt	2	9	18	12	4	0	0	0	0	0	0	2	1	0	1	3	4	3	4	3	4	1	2	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.578C>G	p.Thr193Arg	p.T193R	ENST00000304623	6/22	144	90	54	134	134	0	strelka-mutect	CTNND2,missense_variant,p.Thr193Arg,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Thr102Arg,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.Thr102Arg,ENST00000513598,;CTNND2,intron_variant,,ENST00000503622,NM_001288716.1;CTNND2,intron_variant,,ENST00000502551,;CTNND2,downstream_gene_variant,,ENST00000508761,;CTNND2,intron_variant,,ENST00000504354,;CTNND2,intron_variant,,ENST00000511278,;CTNND2,missense_variant,p.Thr193Arg,ENST00000504499,;CTNND2,intron_variant,,ENST00000513588,;	C	ENST00000304623	Transcript	missense_variant	768/5481	578/3678	193/1225	T/R	aCa/aGa		1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	tolerated(0.38)		6/22		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	67	11397065	11397065	G	C	1	0	0	0	0	1	0	0	0	3829	1377	48	4		4	CTNND2	5	11397065	Missense_Mutation	SNP	G	C3N-01016_TP		11397065	170141194	106	21675											
DNAH5	0	.	GRCh38	chr5	13714475	13714475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggccaccaccgcctccCgggtctcatcccctccacca	5	5	8	23	3	1	0	1	0	1	0	5	0	4	0	10	2	0	0	10	2	0	0	rs376585054		C3N-01016_TP	C3N-01016_NB	C	C																c.13055G>T	p.Arg4352Leu	p.R4352L	ENST00000265104	75/79	445	277	168	403	402	1	strelka-varscan-mutect	DNAH5,missense_variant,p.Arg4352Leu,ENST00000265104,NM_001369.2;	A	ENST00000265104	Transcript	missense_variant	13160/15633	13055/13875	4352/4624	R/L	cGg/cTg	rs376585054,COSM1541856	1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2	deleterious(0)		75/79		hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676,Pfam_domain:PF03028											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs376585054	.												A	3	1	67	13714475	13714475	C	A	1	0	0	0	0	1	0	0	0	4419	652	23	1		1	DNAH5	5	13714475	Missense_Mutation	SNP	C	C3N-01016_TP	2317410	13714475	167823784	107	21676											
CDH10	0	.	GRCh38	chr5	24511393	24511393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcaaacatatcagtaccGtcaccatcaataattcggta	15	11	5	10	2	4	0	4	0	0	0	5	0	4	0	2	1	2	2	2	1	6	5			C3N-01016_TP	C3N-01016_NB	G	G																c.936C>A	p.Asp312Glu	p.D312E	ENST00000264463	6/12	159	125	34	140	140	0	strelka-varscan-mutect	CDH10,missense_variant,p.Asp312Glu,ENST00000264463,NM_006727.3;CDH10,missense_variant,p.Asp312Glu,ENST00000510477,;	T	ENST00000264463	Transcript	missense_variant	1444/3438	936/2367	312/788	D/E	gaC/gaA	COSM4670773	1		-1	CDH10	HGNC	HGNC:1749	protein_coding	YES	CCDS3892.1	ENSP00000264463	Q9Y6N8	X5D8X5	UPI0000167B7B	NM_006727.3	tolerated(0.22)		6/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE	1	SNV	1		1	1										PASS		rs1021736142	.												T	3	4	67	24511393	24511393	G	T	1	0	0	0	0	1	0	0	0	2799	1136	40	1		1	CDH10	5	24511393	Missense_Mutation	SNP	G	C3N-01016_TP	10796918	24511393	157026866	108	21677											
CDH9	0	.	GRCh38	chr5	26915653	26915653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagacatttcaggaacaCtggcagtgtataagtctttt	11	13	8	9	0	2	1	1	0	1	1	3	2	3	2	1	2	1	2	1	2	3	5			C3N-01016_TP	C3N-01016_NB	C	C																c.500G>T	p.Ser167Ile	p.S167I	ENST00000231021	3/12	119	96	23	97	97	0	strelka-varscan-mutect	CDH9,missense_variant,p.Ser167Ile,ENST00000231021,NM_016279.3;CDH9,downstream_gene_variant,,ENST00000513289,;CDH9,downstream_gene_variant,,ENST00000511822,;CDH9,non_coding_transcript_exon_variant,,ENST00000505045,;	A	ENST00000231021	Transcript	missense_variant	673/3079	500/2370	167/789	S/I	aGt/aTt	COSM5065700	1		-1	CDH9	HGNC	HGNC:1768	protein_coding	YES	CCDS3893.1	ENSP00000231021	Q9ULB4		UPI000013C945	NM_016279.3	deleterious(0.02)		3/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF99,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205											1						MODERATE	1	SNV	1		1	1										PASS		rs1359344852	.												A	3	1	67	26915653	26915653	C	A	1	0	0	0	0	1	0	0	0	2820	565	20	2		2	CDH9	5	26915653	Missense_Mutation	SNP	C	C3N-01016_TP	2404260	26915653	154622606	109	21678											
ZFR	0	.	GRCh38	chr5	32379159	32379159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaactcgctgacagaggtCtcgaagaatgcgtatgataa	13	9	12	7	3	1	4	0	2	1	2	3	6	1	5	0	2	2	2	0	2	5	2			C3N-01016_TP	C3N-01016_NB	C	C																c.2791G>T	p.Asp931Tyr	p.D931Y	ENST00000265069	17/20	268	191	77	268	268	0	strelka-varscan-mutect	ZFR,missense_variant,p.Asp931Tyr,ENST00000265069,NM_016107.3;ZFR,non_coding_transcript_exon_variant,,ENST00000510369,;ZFR,3_prime_UTR_variant,,ENST00000507465,;ZFR,non_coding_transcript_exon_variant,,ENST00000514356,;	A	ENST00000265069	Transcript	missense_variant	2894/4738	2791/3225	931/1074	D/Y	Gac/Tac	COSM3744838	1		-1	ZFR	HGNC	HGNC:17277	protein_coding	YES	CCDS34139.1	ENSP00000265069	Q96KR1		UPI00001BBB38	NM_016107.3	deleterious(0)		17/20		PROSITE_profiles:PS51703,hmmpanther:PTHR10910:SF87,hmmpanther:PTHR10910,Pfam_domain:PF07528,SMART_domains:SM00572											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	67	32379159	32379159	C	A	1	0	0	0	0	1	0	0	0	18237	913	32	2		2	ZFR	5	32379159	Missense_Mutation	SNP	C	C3N-01016_TP	5463506	32379159	149159100	110	21679											
SPEF2	0	.	GRCh38	chr5	35705791	35705791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcttacgactgaaatagCaaaaaaaaagaataaaggta	23	8	6	4	1	1	2	0	1	1	1	1	3	1	2	0	1	2	2	0	1	12	5	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.2648C>A	p.Ala883Glu	p.A883E	ENST00000356031	18/37	84	73	11	27	27	0	strelka-varscan	SPEF2,missense_variant,p.Ala883Glu,ENST00000637569,;SPEF2,missense_variant,p.Ala878Glu,ENST00000440995,;SPEF2,missense_variant,p.Ala883Glu,ENST00000356031,NM_024867.3;SPEF2,missense_variant,p.Ala878Glu,ENST00000509059,;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,non_coding_transcript_exon_variant,,ENST00000504054,;SPEF2,3_prime_UTR_variant,,ENST00000508817,;SPEF2,non_coding_transcript_exon_variant,,ENST00000503074,;	A	ENST00000356031	Transcript	missense_variant	2802/5681	2648/5469	883/1822	A/E	gCa/gAa		1		1	SPEF2	HGNC	HGNC:26293	protein_coding	YES	CCDS43309.1	ENSP00000348314	Q9C093	A0A140VKD0	UPI0001505B9F	NM_024867.3	tolerated(0.22)		18/37		Gene3D:3.40.50.300,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	67	35705791	35705791	C	A	1	0	0	0	0	1	0	0	0	15386	710	25	2		2	SPEF2	5	35705791	Missense_Mutation	SNP	C	C3N-01016_TP	3326632	35705791	145832468	111	21680											
CDC20B	0	.	GRCh38	chr5	55119847	55119847	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggacaggtccacacagtCacatcattcttgggagtacc	10	9	11	11	0	3	0	2	0	1	0	4	2	4	2	2	3	1	1	2	3	1	3			C3N-01016_TP	C3N-01016_NB	C	C																c.1413G>T	p.=	p.V471V	ENST00000381375	11/12	221	187	34	235	235	0	strelka-varscan-mutect	CDC20B,synonymous_variant,p.=,ENST00000296733,NM_152623.2;CDC20B,synonymous_variant,p.=,ENST00000381375,NM_001170402.1;CDC20B,synonymous_variant,p.=,ENST00000322374,NM_001145734.2;CDC20B,3_prime_UTR_variant,,ENST00000513180,;	A	ENST00000381375	Transcript	synonymous_variant	1559/2591	1413/1560	471/519	V	gtG/gtT	COSM3855593,COSM3855594	1		-1	CDC20B	HGNC	HGNC:24222	protein_coding	YES	CCDS54852.1	ENSP00000370781	Q86Y33		UPI0000D61625	NM_001170402.1			11/12		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR19918,hmmpanther:PTHR19918:SF4,Superfamily_domains:SSF50978											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	67	55119847	55119847	C	A	1	0	0	0	0	0	0	0	1	2763	813	29	2		2	CDC20B	5	55119847	Silent	SNP	C	C3N-01016_TP	19414056	55119847	126418412	112	21681											
CCDC125	0	.	GRCh38	chr5	69320327	69320327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaatactgaaaactcgCttcatttctttcttctccct	8	17	4	12	1	4	1	1	1	3	0	6	2	4	2	1	1	2	1	1	1	4	6	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.214G>A	p.Ala72Thr	p.A72T	ENST00000396496	2/12	256	213	43	226	226	0	strelka-varscan-mutect	CCDC125,missense_variant,p.Ala72Thr,ENST00000396496,NM_176816.4;CCDC125,missense_variant,p.Ala72Thr,ENST00000396499,;CCDC125,missense_variant,p.Ala72Thr,ENST00000383374,NM_001297696.1;CCDC125,5_prime_UTR_variant,,ENST00000511257,NM_001297697.1;CCDC125,non_coding_transcript_exon_variant,,ENST00000460090,;CCDC125,non_coding_transcript_exon_variant,,ENST00000513172,;CCDC125,non_coding_transcript_exon_variant,,ENST00000512045,;	T	ENST00000396496	Transcript	missense_variant	322/4198	214/1536	72/511	A/T	Gcg/Acg		1		-1	CCDC125	HGNC	HGNC:28924	protein_coding	YES	CCDS4000.1	ENSP00000379754	Q86Z20		UPI00004572F8	NM_176816.4	tolerated(0.22)		2/12		hmmpanther:PTHR28616																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	67	69320327	69320327	C	T	1	0	0	0	0	1	0	0	0	2453	797	28	3		3	CCDC125	5	69320327	Missense_Mutation	SNP	C	C3N-01016_TP	14200480	69320327	112217932	113	21682											
MARVELD2	0	.	GRCh38	chr5	69419629	69419629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaccagtaaggcgctttGtccctgactcctggaagaac	11	9	9	12	1	1	2	1	1	0	1	3	3	3	3	3	2	2	2	3	2	4	2	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.244G>T	p.Val82Phe	p.V82F	ENST00000325631	2/7	117	96	21	70	70	0	strelka-varscan-mutect	MARVELD2,missense_variant,p.Val82Phe,ENST00000454295,NM_001244734.1;MARVELD2,missense_variant,p.Val82Phe,ENST00000325631,NM_001038603.2;MARVELD2,missense_variant,p.Val82Phe,ENST00000512803,;MARVELD2,missense_variant,p.Val82Phe,ENST00000413223,;MARVELD2,missense_variant,p.Val82Phe,ENST00000436532,;MARVELD2,missense_variant,p.Val82Phe,ENST00000515844,;RAD17,downstream_gene_variant,,ENST00000509734,;RAD17,downstream_gene_variant,,ENST00000305138,NM_002873.1;RAD17,downstream_gene_variant,,ENST00000354868,NM_133338.2;RAD17,downstream_gene_variant,,ENST00000616683,NM_001278622.1;RAD17,downstream_gene_variant,,ENST00000361732,NM_133343.1;RAD17,downstream_gene_variant,,ENST00000354312,NM_133342.2;RAD17,downstream_gene_variant,,ENST00000345306,NM_133344.2;RAD17,downstream_gene_variant,,ENST00000358030,NM_133340.2;	T	ENST00000325631	Transcript	missense_variant	318/2153	244/1677	82/558	V/F	Gtc/Ttc		1		1	MARVELD2	HGNC	HGNC:26401	protein_coding	YES	CCDS34175.1	ENSP00000323264	Q8N4S9		UPI00001416EB	NM_001038603.2	deleterious(0.03)		2/7		hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	69419629	69419629	G	T	1	0	0	0	0	1	0	0	0	9244	1377	48	2		2	MARVELD2	5	69419629	Missense_Mutation	SNP	G	C3N-01016_TP	99302	69419629	112118630	114	21683											
ARHGEF28	0	.	GRCh38	chr5	73753136	73753136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttggatgaggagctcGtgctggctctgacccatctg	5	11	13	12	1	2	2	0	2	2	0	3	4	2	4	2	3	3	3	2	3	0	1			C3N-01016_TP	C3N-01016_NB	G	G																c.409G>T	p.Val137Leu	p.V137L	ENST00000545377	4/37	39	35	4	28	28	0	strelka-mutect	ARHGEF28,missense_variant,p.Val137Leu,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Val137Leu,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Val137Leu,ENST00000426542,;ARHGEF28,missense_variant,p.Val137Leu,ENST00000437974,;ARHGEF28,missense_variant,p.Val137Leu,ENST00000296794,;ARHGEF28,downstream_gene_variant,,ENST00000509848,;	T	ENST00000545377	Transcript	missense_variant	585/6351	409/5196	137/1731	V/L	Gtg/Ttg	COSM3975622,COSM3975623	1		1	ARHGEF28	HGNC	HGNC:30322	protein_coding	YES	CCDS47231.2	ENSP00000441913	Q8N1W1		UPI00004DF58E	NM_001080479.2	tolerated(0.1)		4/37		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF133											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1476513959	.												T	3	4	67	73753136	73753136	G	T	1	0	0	0	0	1	0	0	0	1036	1145	40	1		1	ARHGEF28	5	73753136	Missense_Mutation	SNP	G	C3N-01016_TP	4333507	73753136	107785123	115	21684											
ANKRD31	0	.	GRCh38	chr5	75104859	75104859	+	Missense_Mutation	SNP	C	C	A																															tatcatttccagaaaattctCcccttctcactgcctctgaa																								novel		C3N-01016_TP	C3N-01016_NB	C	C																c.4529G>T	p.Gly1510Val	p.G1510V	ENST00000274361	21/25	159	140	19	123	123	0	strelka-varscan-mutect	ANKRD31,missense_variant,p.Gly1567Val,ENST00000506364,;ANKRD31,missense_variant,p.Gly1510Val,ENST00000274361,NM_001164443.1;ANKRD31,non_coding_transcript_exon_variant,,ENST00000504022,;	A	ENST00000274361	Transcript	missense_variant	4721/6036	4529/5622	1510/1873	G/V	gGa/gTa		1		-1	ANKRD31	HGNC	HGNC:26853	protein_coding	YES	CCDS47233.1	ENSP00000274361	Q8N7Z5		UPI00001D7FAE	NM_001164443.1	deleterious(0.02)		21/25		hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF14																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	67	75104859	75104859	C	A	1	0	0	0	0	1	0	0	0	764	855	30	2		2	ANKRD31	5	75104859	Missense_Mutation	SNP	C	C3N-01016_TP	1351723	75104859	106433400	116	21685	458	2									
ANKRD31	0	.	GRCh38	chr5	75104860	75104860	+	Missense_Mutation	SNP	C	C	T																															atcatttccagaaaattctcCccttctcactgcctctgaat																								novel		C3N-01016_TP	C3N-01016_NB	C	C																c.4528G>A	p.Gly1510Arg	p.G1510R	ENST00000274361	21/25	161	143	18	120	120	0	strelka-varscan-mutect	ANKRD31,missense_variant,p.Gly1567Arg,ENST00000506364,;ANKRD31,missense_variant,p.Gly1510Arg,ENST00000274361,NM_001164443.1;ANKRD31,non_coding_transcript_exon_variant,,ENST00000504022,;	T	ENST00000274361	Transcript	missense_variant	4720/6036	4528/5622	1510/1873	G/R	Gga/Aga		1		-1	ANKRD31	HGNC	HGNC:26853	protein_coding	YES	CCDS47233.1	ENSP00000274361	Q8N7Z5		UPI00001D7FAE	NM_001164443.1	deleterious(0.02)		21/25		hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF14																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	67	75104860	75104860	C	T	1	0	0	0	0	1	0	0	0	764	632	22	3		3	ANKRD31	5	75104860	Missense_Mutation	SNP	C	C3N-01016_TP	1	75104860	106433399	117	21686	458	2									
RHOBTB3	0	.	GRCh38	chr5	95788791	95788791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgattgcctttcaacctgGctacttcatttcattgctac	7	17	5	12	0	4	1	3	1	1	0	4	1	4	1	2	1	5	2	2	1	3	7	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1653G>T	p.Trp551Cys	p.W551C	ENST00000379982	11/12	314	244	70	271	271	0	strelka-varscan-mutect	RHOBTB3,missense_variant,p.Trp551Cys,ENST00000379982,NM_014899.3;RHOBTB3,missense_variant,p.Trp133Cys,ENST00000510313,;RHOBTB3,missense_variant,p.Trp182Cys,ENST00000504179,;RHOBTB3,missense_variant,p.Trp54Cys,ENST00000503737,;GLRX,intron_variant,,ENST00000508780,;RHOBTB3,upstream_gene_variant,,ENST00000513091,;RHOBTB3,upstream_gene_variant,,ENST00000514198,;GLRX,intron_variant,,ENST00000507605,;RHOBTB3,non_coding_transcript_exon_variant,,ENST00000511558,;RHOBTB3,downstream_gene_variant,,ENST00000507186,;	T	ENST00000379982	Transcript	missense_variant	2161/5537	1653/1836	551/611	W/C	tgG/tgT		1		1	RHOBTB3	HGNC	HGNC:18757	protein_coding	YES	CCDS4077.1	ENSP00000369318	O94955		UPI0000367303	NM_014899.3	deleterious(0)		11/12																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	95788791	95788791	G	T	1	0	0	0	0	1	0	0	0	13508	1212	42	2		2	RHOBTB3	5	95788791	Missense_Mutation	SNP	G	C3N-01016_TP	20683931	95788791	85749468	118	21687											
CAMK4	0	.	GRCh38	chr5	111446710	111446711	+	Frame_Shift_Ins	INS	-	-	A																															acatgaaaatgggattgtccINSatcgtgatctcaaaccagag																								novel		C3N-01016_TP	C3N-01016_NB	-	-																c.485dupA	p.His162GlnfsTer3	p.H162Qfs*3	ENST00000282356	6/11	96	67	29	149	149	0	sindel-varindel	CAMK4,frameshift_variant,p.His162GlnfsTer3,ENST00000282356,NM_001323377.1,NM_001323376.1,NM_001323374.1,NM_001323375.1,NM_001744.4;CAMK4,frameshift_variant,p.His162GlnfsTer3,ENST00000512453,;CAMK4,non_coding_transcript_exon_variant,,ENST00000505763,;CAMK4,non_coding_transcript_exon_variant,,ENST00000502916,;CAMK4,3_prime_UTR_variant,,ENST00000515231,;CAMK4,3_prime_UTR_variant,,ENST00000514007,;CAMK4,3_prime_UTR_variant,,ENST00000504544,;	A	ENST00000282356	Transcript	frameshift_variant	882-883/12240	484-485/1422	162/473	H/QX	cat/cAat		1		1	CAMK4	HGNC	HGNC:1464	protein_coding	YES	CCDS4103.1	ENSP00000282356	Q16566		UPI000000128E	NM_001323377.1,NM_001323376.1,NM_001323374.1,NM_001323375.1,NM_001744.4			6/11		PROSITE_profiles:PS50011,hmmpanther:PTHR24349,hmmpanther:PTHR24349:SF152,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	insertion	1	1		1										PASS		.	.												A	7	5	67	111446710	111446710	-	A	1	0	1	1	0	0	0	0	0	2296	594	21	0		0	CAMK4	5	111446710	Frame_Shift_Ins	INS	-	C3N-01016_TP	15657919	111446710	70091549	119	21688	459	3									
CAMK4	0	.	GRCh38	chr5	111446712	111446712	+	Missense_Mutation	SNP	T	T	A																															catgaaaatgggattgtccaTcgtgatctcaaaccagagaa																								novel		C3N-01016_TP	C3N-01016_NB	T	T																c.486T>A	p.His162Gln	p.H162Q	ENST00000282356	6/11	108	79	29	154	154	0	strelka-mutect	CAMK4,missense_variant,p.His162Gln,ENST00000282356,NM_001323377.1,NM_001323376.1,NM_001323374.1,NM_001323375.1,NM_001744.4;CAMK4,missense_variant,p.His162Gln,ENST00000512453,;CAMK4,non_coding_transcript_exon_variant,,ENST00000505763,;CAMK4,non_coding_transcript_exon_variant,,ENST00000502916,;CAMK4,3_prime_UTR_variant,,ENST00000515231,;CAMK4,3_prime_UTR_variant,,ENST00000514007,;CAMK4,3_prime_UTR_variant,,ENST00000504544,;	A	ENST00000282356	Transcript	missense_variant	884/12240	486/1422	162/473	H/Q	caT/caA		1		1	CAMK4	HGNC	HGNC:1464	protein_coding	YES	CCDS4103.1	ENSP00000282356	Q16566		UPI000000128E	NM_001323377.1,NM_001323376.1,NM_001323374.1,NM_001323375.1,NM_001744.4	deleterious(0)		6/11		PROSITE_profiles:PS50011,hmmpanther:PTHR24349,hmmpanther:PTHR24349:SF152,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	111446712	111446712	T	A	1	0	0	0	0	1	0	0	0	2296	1432	50	4		4	CAMK4	5	111446712	Missense_Mutation	SNP	T	C3N-01016_TP	2	111446712	70091547	120	21689	459	3									
CAMK4	0	.	GRCh38	chr5	111446713	111446713	+	Missense_Mutation	SNP	C	C	A																															atgaaaatgggattgtccatCgtgatctcaaaccagagaat																										C3N-01016_TP	C3N-01016_NB	C	C																c.487C>A	p.Arg163Ser	p.R163S	ENST00000282356	6/11	109	79	30	156	156	0	strelka-mutect	CAMK4,missense_variant,p.Arg163Ser,ENST00000282356,NM_001323377.1,NM_001323376.1,NM_001323374.1,NM_001323375.1,NM_001744.4;CAMK4,missense_variant,p.Arg163Ser,ENST00000512453,;CAMK4,non_coding_transcript_exon_variant,,ENST00000505763,;CAMK4,non_coding_transcript_exon_variant,,ENST00000502916,;CAMK4,3_prime_UTR_variant,,ENST00000515231,;CAMK4,3_prime_UTR_variant,,ENST00000514007,;CAMK4,3_prime_UTR_variant,,ENST00000504544,;	A	ENST00000282356	Transcript	missense_variant	885/12240	487/1422	163/473	R/S	Cgt/Agt	COSM362352	1		1	CAMK4	HGNC	HGNC:1464	protein_coding	YES	CCDS4103.1	ENSP00000282356	Q16566		UPI000000128E	NM_001323377.1,NM_001323376.1,NM_001323374.1,NM_001323375.1,NM_001744.4	deleterious(0.01)		6/11		PROSITE_profiles:PS50011,hmmpanther:PTHR24349,hmmpanther:PTHR24349:SF152,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112											1						MODERATE	1	SNV	1		1	1										PASS		rs1260987863	.												A	3	1	67	111446713	111446713	C	A	1	0	0	0	0	1	0	0	0	2296	884	31	1		1	CAMK4	5	111446713	Missense_Mutation	SNP	C	C3N-01016_TP	1	111446713	70091546	121	21690	459	3									
TSSK1B	0	.	GRCh38	chr5	113434563	113434563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggtcgccctggaccgCgagctccatgacgatgtaga	9	6	15	11	4	0	2	0	1	0	1	2	7	1	4	3	3	1	2	3	3	1	1	rs373083902		C3N-01016_TP	C3N-01016_NB	C	C																c.277G>A	p.Ala93Thr	p.A93T	ENST00000390666	1/1	157	121	36	151	150	1	strelka-varscan-mutect	TSSK1B,missense_variant,p.Ala93Thr,ENST00000390666,NM_032028.3;MCC,intron_variant,,ENST00000408903,NM_001085377.1;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000416046,;CTD-2201G3.1,upstream_gene_variant,,ENST00000510381,;	T	ENST00000390666	Transcript	missense_variant	469/2478	277/1104	93/367	A/T	Gcg/Acg	rs373083902,COSM268098,COSM268099	1		-1	TSSK1B	HGNC	HGNC:14968	protein_coding	YES	CCDS4112.1	ENSP00000375081	Q9BXA7	A0ZT98	UPI000003C96E	NM_032028.3	deleterious(0)		1/1		PROSITE_profiles:PS50011,hmmpanther:PTHR24343:SF76,hmmpanther:PTHR24343,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1,1						MODERATE		SNV			0,1,1	1										PASS		rs373083902	.												T	3	4	67	113434563	113434563	C	T	1	0	0	0	0	1	0	0	0	17176	768	27	1		1	TSSK1B	5	113434563	Missense_Mutation	SNP	C	C3N-01016_TP	1987850	113434563	68103696	122	21691											
TSSK1B	0	.	GRCh38	chr5	113434830	113434830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcgcttgaggacagcagCgtcatccatggtgccaggaa	9	8	13	11	3	1	1	1	1	0	0	4	3	2	3	2	3	3	2	2	3	1	1	rs200485378		C3N-01016_TP	C3N-01016_NB	C	C																c.10G>T	p.Ala4Ser	p.A4S	ENST00000390666	1/1	60	45	15	53	53	0	strelka-varscan-mutect	TSSK1B,missense_variant,p.Ala4Ser,ENST00000390666,NM_032028.3;MCC,intron_variant,,ENST00000408903,NM_001085377.1;CTD-2201G3.1,non_coding_transcript_exon_variant,,ENST00000416046,;CTD-2201G3.1,upstream_gene_variant,,ENST00000510381,;	A	ENST00000390666	Transcript	missense_variant	202/2478	10/1104	4/367	A/S	Gct/Tct	rs200485378,COSM2991430,COSM2991431	1		-1	TSSK1B	HGNC	HGNC:14968	protein_coding	YES	CCDS4112.1	ENSP00000375081	Q9BXA7	A0ZT98	UPI000003C96E	NM_032028.3	tolerated(0.12)		1/1		hmmpanther:PTHR24343:SF76,hmmpanther:PTHR24343											0,1,1						MODERATE		SNV			0,1,1	1										PASS		rs200485378	.												A	3	1	67	113434830	113434830	C	A	1	0	0	0	0	1	0	0	0	17176	768	27	1		1	TSSK1B	5	113434830	Missense_Mutation	SNP	C	C3N-01016_TP	267	113434830	68103429	123	21692											
LVRN	0	.	GRCh38	chr5	115962968	115962968	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggccgcagctgaggccCgacgagcttccggccgggtc	4	6	16	15	5	0	1	0	1	0	0	2	3	1	1	4	4	2	3	4	4	0	1	rs756915267		C3N-01016_TP	C3N-01016_NB	C	C																c.351C>T	p.=	p.P117P	ENST00000357872	1/20	178	144	34	164	164	0	strelka-varscan-mutect	LVRN,synonymous_variant,p.=,ENST00000357872,NM_173800.4;LVRN,synonymous_variant,p.=,ENST00000395528,;LVRN,synonymous_variant,p.=,ENST00000504467,;	T	ENST00000357872	Transcript	synonymous_variant	475/4581	351/2973	117/990	P	ccC/ccT	rs756915267	1		1	LVRN	HGNC	HGNC:26904	protein_coding	YES	CCDS4124.1	ENSP00000350541	Q6Q4G3	A0A0A6YYA2	UPI0000457329	NM_173800.4			1/20		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF31,Pfam_domain:PF01433,Superfamily_domains:0038696																	LOW	1	SNV	1			1										PASS		rs756915267	.												T	2	4	67	115962968	115962968	C	T	1	0	0	0	0	0	0	0	1	8998	639	23	1		1	LVRN	5	115962968	Silent	SNP	C	C3N-01016_TP	2528138	115962968	65575291	124	21693											
FBN2	0	.	GRCh38	chr5	128263496	128263496	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccgtgttagagcagccgtaAttgcaggggttcttggagga	8	11	15	7	2	1	1	0	0	1	1	2	3	2	3	2	4	3	5	2	4	2	5	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.8121T>C	p.=	p.N2707N	ENST00000508053	69/71	383	303	80	412	411	1	strelka-varscan-mutect	FBN2,synonymous_variant,p.=,ENST00000508053,;FBN2,synonymous_variant,p.=,ENST00000262464,NM_001999.3;FBN2,synonymous_variant,p.=,ENST00000619499,;	G	ENST00000508053	Transcript	synonymous_variant	9096/11132	8121/8739	2707/2912	N	aaT/aaC		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468				69/71		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	67	128263496	128263496	A	G	1	0	0	0	0	0	0	0	1	5566	98	4	5		5	FBN2	5	128263496	Silent	SNP	A	C3N-01016_TP	12300528	128263496	53274763	125	21694											
DCANP1	0	.	GRCh38	chr5	135446730	135446730	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccagatgtttccgggctcCctcccgcctggtctggcctg	4	10	11	16	2	1	1	0	0	1	1	4	1	4	1	6	3	1	2	6	3	1	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.379G>T	p.Gly127Ter	p.G127*	ENST00000503143	1/1	136	113	23	129	129	0	strelka-varscan-mutect	DCANP1,stop_gained,p.Gly127Ter,ENST00000503143,NM_130848.2;TIFAB,3_prime_UTR_variant,,ENST00000537858,NM_001099221.1;CTB-138E5.1,upstream_gene_variant,,ENST00000510230,;	A	ENST00000503143	Transcript	stop_gained	619/3135	379/735	127/244	G/*	Gga/Tga		1		-1	DCANP1	HGNC	HGNC:24459	protein_coding	YES	CCDS4186.1	ENSP00000421871	Q8TF63		UPI000006FF8B	NM_130848.2			1/1																			HIGH		SNV				1										PASS		.	.												A	4	1	67	135446730	135446730	C	A	1	0	0	0	0	0	1	0	0	4081	632	22	2		2	DCANP1	5	135446730	Nonsense_Mutation	SNP	C	C3N-01016_TP	7183234	135446730	46091529	126	21695											
PCDHB4	0	.	GRCh38	chr5	141124174	141124174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcggtgggtcgctgctcgGtgcccgagggcccctttcca	2	9	14	16	4	0	0	0	0	0	0	4	1	1	0	5	4	2	2	5	4	0	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.2176G>T	p.Val726Leu	p.V726L	ENST00000194152	1/1	363	292	71	369	368	1	strelka-varscan-mutect	PCDHB4,missense_variant,p.Val726Leu,ENST00000194152,NM_018938.3;AC005754.8,downstream_gene_variant,,ENST00000606030,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;PCDHB4,downstream_gene_variant,,ENST00000623478,;	T	ENST00000194152	Transcript	missense_variant	2376/3825	2176/2388	726/795	V/L	Gtg/Ttg		1		1	PCDHB4	HGNC	HGNC:8689	protein_coding	YES	CCDS4246.1	ENSP00000194152	Q9Y5E5		UPI00001273DF	NM_018938.3	deleterious_low_confidence(0.05)		1/1		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF55																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	67	141124174	141124174	G	T	1	0	0	0	0	1	0	0	0	11631	1261	44	2		2	PCDHB4	5	141124174	Missense_Mutation	SNP	G	C3N-01016_TP	5677444	141124174	40414085	127	21696											
PCDHB6	0	.	GRCh38	chr5	141151281	141151281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggacgtgaatgacaatGcccctgaactcaccatgtcg	10	9	9	13	2	1	3	1	3	0	0	3	4	2	4	4	1	2	0	4	1	3	0	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1024G>T	p.Ala342Ser	p.A342S	ENST00000231136	1/1	166	134	32	159	159	0	strelka-varscan-mutect	PCDHB6,missense_variant,p.Ala342Ser,ENST00000231136,NM_018939.3;PCDHB6,missense_variant,p.Ala206Ser,ENST00000622991,NM_001303145.1;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;PCDHB17P,upstream_gene_variant,,ENST00000623466,;PCDHB17P,upstream_gene_variant,,ENST00000539533,;	T	ENST00000231136	Transcript	missense_variant	1260/3266	1024/2385	342/794	A/S	Gcc/Tcc		1		1	PCDHB6	HGNC	HGNC:8691	protein_coding	YES	CCDS4248.1	ENSP00000231136	Q9Y5E3		UPI0003CC25E7	NM_018939.3	tolerated_low_confidence(0.13)		1/1		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE	1	SNV				1										PASS		rs782430920	.												T	3	4	67	141151281	141151281	G	T	1	0	0	0	0	1	0	0	0	11633	1319	46	2		2	PCDHB6	5	141151281	Missense_Mutation	SNP	G	C3N-01016_TP	27107	141151281	40386978	128	21697											
PCDHB8	0	.	GRCh38	chr5	141178916	141178916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagataagcaaaacttttaaGgtcgatttcttgacaggaga	15	11	10	5	1	1	3	0	1	1	2	2	6	1	3	0	2	2	1	0	2	4	5			C3N-01016_TP	C3N-01016_NB	G	G																c.882G>T	p.Lys294Asn	p.K294N	ENST00000239444	1/1	286	265	21	227	227	0	strelka-varscan-mutect	PCDHB8,missense_variant,p.Lys294Asn,ENST00000239444,NM_019120.4;PCDHB16,upstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.3;PCDHB16,upstream_gene_variant,,ENST00000625044,;CH17-140K24.5,upstream_gene_variant,,ENST00000623884,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,downstream_gene_variant,,ENST00000624549,;CH17-140K24.7,downstream_gene_variant,,ENST00000624089,;AC005754.7,upstream_gene_variant,,ENST00000624802,;CH17-140K24.4,intron_variant,,ENST00000623995,;CH17-140K24.5,upstream_gene_variant,,ENST00000623407,;	T	ENST00000239444	Transcript	missense_variant	1127/2740	882/2406	294/801	K/N	aaG/aaT	COSM3610750	1		1	PCDHB8	HGNC	HGNC:8693	protein_coding	YES	CCDS4250.1	ENSP00000239444	Q9UN66		UPI000192C41A	NM_019120.4	deleterious_low_confidence(0.04)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE		SNV			1	1										PASS		.	.												T	3	4	67	141178916	141178916	G	T	1	0	0	0	0	1	0	0	0	11635	991	35	2		2	PCDHB8	5	141178916	Missense_Mutation	SNP	G	C3N-01016_TP	27635	141178916	40359343	129	21698											
PCDHGA7	0	.	GRCh38	chr5	141383342	141383342	+	Missense_Mutation	SNP	C	C	A																															aataatggagaatacagctcCtggggttcggtttccgttaa																								novel		C3N-01016_TP	C3N-01016_NB	C	C																c.443C>A	p.Pro148His	p.P148H	ENST00000518325	1/4	273	232	41	247	247	0	strelka-mutect	PCDHGA7,missense_variant,p.Pro148His,ENST00000518325,NM_018920.3;PCDHGA7,missense_variant,p.Pro148His,ENST00000617050,NM_032087.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA6,downstream_gene_variant,,ENST00000610583,NM_032086.1;PCDHGB4,upstream_gene_variant,,ENST00000615384,NM_032098.1;PCDHGB4,upstream_gene_variant,,ENST00000519479,NM_003736.2;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000518325	Transcript	missense_variant	443/4605	443/2799	148/932	P/H	cCt/cAt		1		1	PCDHGA7	HGNC	HGNC:8705	protein_coding	YES	CCDS54927.1	ENSP00000430024	Q9Y5G6		UPI000007146F	NM_018920.3	deleterious_low_confidence(0)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF56,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	141383342	141383342	C	A	1	0	0	0	0	1	0	0	0	11646	681	24	2		2	PCDHGA7	5	141383342	Missense_Mutation	SNP	C	C3N-01016_TP	204426	141383342	40154917	130	21699	460	2									
PCDHGA7	0	.	GRCh38	chr5	141383344	141383344	+	Frame_Shift_Del	DEL	G	G	-																															taatggagaatacagctcctGgggttcggtttccgttaagc																								novel		C3N-01016_TP	C3N-01016_NB	G	G																c.448delG	p.Val150PhefsTer5	p.V150Ffs*5	ENST00000518325	1/4	256	218	38	248	248	0	sindel-varindel	PCDHGA7,frameshift_variant,p.Val150PhefsTer5,ENST00000518325,NM_018920.3;PCDHGA7,frameshift_variant,p.Val150PhefsTer5,ENST00000617050,NM_032087.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA6,downstream_gene_variant,,ENST00000610583,NM_032086.1;PCDHGB4,upstream_gene_variant,,ENST00000615384,NM_032098.1;PCDHGB4,upstream_gene_variant,,ENST00000519479,NM_003736.2;PCDHGA3,intron_variant,,ENST00000612467,;	-	ENST00000518325	Transcript	frameshift_variant	445/4605	445/2799	149/932	G/X	Ggg/gg		1		1	PCDHGA7	HGNC	HGNC:8705	protein_coding	YES	CCDS54927.1	ENSP00000430024	Q9Y5G6		UPI000007146F	NM_018920.3			1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF56,Superfamily_domains:SSF49313																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	67	141383344	141383344	G	-	1	0	1	0	1	0	0	0	0	11646	1348	47	0		0	PCDHGA7	5	141383344	Frame_Shift_Del	DEL	G	C3N-01016_TP	2	141383344	40154915	131	21700	460	2									
PCDH1	0	.	GRCh38	chr5	141864104	141864104	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attgacaccagagtcaaagtCctcggctgccacctggctga	10	8	10	13	1	1	3	1	2	0	1	3	3	2	3	4	2	1	2	4	2	1	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.2227G>T	p.Asp743Tyr	p.D743Y	ENST00000287008	3/5	71	60	11	44	44	0	strelka-varscan-mutect	PCDH1,missense_variant,p.Asp743Tyr,ENST00000287008,NM_032420.3;PCDH1,missense_variant,p.Asp743Tyr,ENST00000394536,NM_001278613.1,NM_002587.4;PCDH1,3_prime_UTR_variant,,ENST00000515351,;PCDH1,intron_variant,,ENST00000503492,;PCDH1,downstream_gene_variant,,ENST00000514773,;PCDH1,non_coding_transcript_exon_variant,,ENST00000357517,;PCDH1,non_coding_transcript_exon_variant,,ENST00000511044,;PCDH1,downstream_gene_variant,,ENST00000505937,;	A	ENST00000287008	Transcript	missense_variant	2375/4793	2227/3714	743/1237	D/Y	Gac/Tac		1		-1	PCDH1	HGNC	HGNC:8655	protein_coding	YES	CCDS4267.1	ENSP00000287008	Q08174		UPI000016158F	NM_032420.3	deleterious(0)		3/5		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF326,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	67	141864104	141864104	C	A	1	0	0	0	0	1	0	0	0	11593	855	30	2		2	PCDH1	5	141864104	Missense_Mutation	SNP	C	C3N-01016_TP	480760	141864104	39674155	132	21701											
SPINK5	0	.	GRCh38	chr5	148095822	148095822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttactttttccagcaagCagcgtttttcagaggaaaac	12	14	7	8	1	1	1	1	0	0	1	2	2	2	2	1	1	5	3	1	1	4	6	rs200808369		C3N-01016_TP	C3N-01016_NB	C	C																c.799C>A	p.Gln267Lys	p.Q267K	ENST00000359874	10/34	251	188	63	201	201	0	strelka-varscan-mutect	SPINK5,missense_variant,p.Gln267Lys,ENST00000359874,NM_001127698.1;SPINK5,missense_variant,p.Gln267Lys,ENST00000256084,NM_006846.3;SPINK5,missense_variant,p.Gln267Lys,ENST00000398454,NM_001127699.1;SPINK5,missense_variant,p.Gln248Lys,ENST00000508733,;SPINK5,non_coding_transcript_exon_variant,,ENST00000476608,;SPINK5,non_coding_transcript_exon_variant,,ENST00000481286,;SPINK5,3_prime_UTR_variant,,ENST00000476697,;SPINK5,non_coding_transcript_exon_variant,,ENST00000507988,;	A	ENST00000359874	Transcript	missense_variant	872/3656	799/3285	267/1094	Q/K	Cag/Aag	rs200808369	1		1	SPINK5	HGNC	HGNC:15464	protein_coding	YES	CCDS47300.1	ENSP00000352936	Q9NQ38		UPI000020CF25	NM_001127698.1	tolerated(0.98)		10/34		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51465,Gene3D:1.10.1890.10,Pfam_domain:PF07648,SMART_domains:SM00280,Superfamily_domains:SSF100895																	MODERATE	1	SNV	1			1										PASS		rs200808369	.												A	3	1	67	148095822	148095822	C	A	1	0	0	0	0	1	0	0	0	15415	724	25	2		2	SPINK5	5	148095822	Missense_Mutation	SNP	C	C3N-01016_TP	6231718	148095822	33442437	133	21702											
PPARGC1B	0	.	GRCh38	chr5	149836490	149836490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcccagccagcctcccagGctggccagaagcgtcccttc	7	5	10	19	1	0	1	0	0	0	1	3	1	2	1	6	2	4	1	6	2	1	1	rs755834462		C3N-01016_TP	C3N-01016_NB	G	G																c.2035G>T	p.Ala679Ser	p.A679S	ENST00000309241	8/12	252	229	23	245	245	0	strelka-varscan-mutect	PPARGC1B,missense_variant,p.Ala679Ser,ENST00000309241,NM_133263.3;PPARGC1B,missense_variant,p.Ala679Ser,ENST00000394320,;PPARGC1B,missense_variant,p.Ala615Ser,ENST00000403750,NM_001172699.1;PPARGC1B,missense_variant,p.Ala640Ser,ENST00000360453,NM_001172698.1;PPARGC1B,missense_variant,p.Ala366Ser,ENST00000434684,;	T	ENST00000309241	Transcript	missense_variant	2067/10568	2035/3072	679/1023	A/S	Gct/Tct	rs755834462	1		1	PPARGC1B	HGNC	HGNC:30022	protein_coding	YES	CCDS4298.1	ENSP00000312649	Q86YN6		UPI000006F49D	NM_133263.3	tolerated(0.11)		8/12		hmmpanther:PTHR15528:SF12,hmmpanther:PTHR15528																	MODERATE	1	SNV	1			1										PASS		rs755834462	.												T	3	4	67	149836490	149836490	G	T	1	0	0	0	0	1	0	0	0	12410	1203	42	2		2	PPARGC1B	5	149836490	Missense_Mutation	SNP	G	C3N-01016_TP	1740668	149836490	31701769	134	21703											
PPARGC1B	0	.	GRCh38	chr5	149836551	149836551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactactgccaggtgctccGaccagaaggcgtcctgcaaa	10	7	11	13	2	0	2	0	1	0	1	2	3	2	2	4	2	4	2	4	2	3	1	rs747080012		C3N-01016_TP	C3N-01016_NB	G	G																c.2096G>T	p.Arg699Leu	p.R699L	ENST00000309241	8/12	375	284	91	441	441	0	strelka-varscan-mutect	PPARGC1B,missense_variant,p.Arg699Leu,ENST00000309241,NM_133263.3;PPARGC1B,missense_variant,p.Arg699Leu,ENST00000394320,;PPARGC1B,missense_variant,p.Arg635Leu,ENST00000403750,NM_001172699.1;PPARGC1B,missense_variant,p.Arg660Leu,ENST00000360453,NM_001172698.1;PPARGC1B,missense_variant,p.Arg386Leu,ENST00000434684,;	T	ENST00000309241	Transcript	missense_variant	2128/10568	2096/3072	699/1023	R/L	cGa/cTa	rs747080012	1		1	PPARGC1B	HGNC	HGNC:30022	protein_coding	YES	CCDS4298.1	ENSP00000312649	Q86YN6		UPI000006F49D	NM_133263.3	tolerated(0.07)		8/12		hmmpanther:PTHR15528:SF12,hmmpanther:PTHR15528																	MODERATE	1	SNV	1			1										PASS		rs747080012	.												T	3	4	67	149836551	149836551	G	T	1	0	0	0	0	1	0	0	0	12410	1058	37	1		1	PPARGC1B	5	149836551	Missense_Mutation	SNP	G	C3N-01016_TP	61	149836551	31701708	135	21704											
PDE6A	0	.	GRCh38	chr5	149896486	149896486	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttcgtatttatctgcaTctggcagctccgcttgctgt	6	17	8	10	2	2	0	0	0	2	0	4	0	3	0	1	1	3	6	1	1	3	6	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.1490A>T	p.Asp497Val	p.D497V	ENST00000255266	12/22	257	207	50	233	233	0	strelka-varscan-mutect	PDE6A,missense_variant,p.Asp497Val,ENST00000255266,NM_000440.2;PDE6A,missense_variant,p.Asp416Val,ENST00000613228,;PDE6A,missense_variant,p.Asp416Val,ENST00000617647,;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;	A	ENST00000255266	Transcript	missense_variant	1610/5642	1490/2583	497/860	D/V	gAt/gTt		1		-1	PDE6A	HGNC	HGNC:8785	protein_coding	YES	CCDS4299.1	ENSP00000255266	P16499		UPI000013CE9F	NM_000440.2	tolerated(0.08)		12/22		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF115,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	149896486	149896486	T	A	1	0	0	0	0	1	0	0	0	11733	1435	50	4		4	PDE6A	5	149896486	Missense_Mutation	SNP	T	C3N-01016_TP	59935	149896486	31641773	136	21705											
FAM71B	0	.	GRCh38	chr5	157162977	157162977	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccttcttttctcttctttCcttgttttcattccagactt	3	23	3	12	0	4	1	1	0	3	1	8	1	7	1	3	0	0	1	3	0	0	10			C3N-01016_TP	C3N-01016_NB	C	C																c.1288G>T	p.Glu430Ter	p.E430*	ENST00000302938	2/2	271	227	44	287	287	0	strelka-varscan-mutect	FAM71B,stop_gained,p.Glu430Ter,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;MED7,upstream_gene_variant,,ENST00000524289,;	A	ENST00000302938	Transcript	stop_gained	1384/2515	1288/1818	430/605	E/*	Gaa/Taa	COSM3613089	1		-1	FAM71B	HGNC	HGNC:28397	protein_coding	YES	CCDS4335.1	ENSP00000305596	Q8TC56	A0A140VJJ4	UPI000006F9DC	NM_130899.2			2/2		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	67	157162977	157162977	C	A	1	0	0	0	0	0	1	0	0	5472	864	30	2		2	FAM71B	5	157162977	Nonsense_Mutation	SNP	C	C3N-01016_TP	7266491	157162977	24375282	137	21706											
SLU7	0	.	GRCh38	chr5	160415206	160415206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctttctccagtcctctCtggtcatcttctttggttct	2	21	5	13	0	8	0	1	0	7	0	11	0	9	0	2	2	0	1	2	2	0	5			C3N-01016_TP	C3N-01016_NB	C	C																c.89G>T	p.Arg30Ile	p.R30I	ENST00000297151	2/16	137	106	31	174	174	0	strelka-varscan-mutect	SLU7,missense_variant,p.Arg30Ile,ENST00000297151,NM_006425.4;SLU7,missense_variant,p.Arg30Ile,ENST00000520664,;SLU7,missense_variant,p.Arg30Ile,ENST00000519349,;SLU7,missense_variant,p.Arg30Ile,ENST00000521826,;SLU7,non_coding_transcript_exon_variant,,ENST00000518268,;SLU7,non_coding_transcript_exon_variant,,ENST00000521190,;	A	ENST00000297151	Transcript	missense_variant	477/3793	89/1761	30/586	R/I	aGa/aTa	COSM4889509	1		-1	SLU7	HGNC	HGNC:16939	protein_coding	YES	CCDS4352.1	ENSP00000297151	O95391		UPI000013E3CE	NM_006425.4	deleterious(0)		2/16		hmmpanther:PTHR12942,hmmpanther:PTHR12942:SF2											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	67	160415206	160415206	C	A	1	0	0	0	0	1	0	0	0	15044	913	32	2		2	SLU7	5	160415206	Missense_Mutation	SNP	C	C3N-01016_TP	3252229	160415206	21123053	138	21707											
ATP10B	0	.	GRCh38	chr5	160632314	160632314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacaggcattggtattGggtccactcttcaccatctg	9	11	11	10	0	3	0	1	0	2	0	4	2	4	1	2	4	0	2	2	4	2	4	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1435C>A	p.Gln479Lys	p.Q479K	ENST00000327245	13/26	234	185	49	212	212	0	strelka-varscan-mutect	ATP10B,missense_variant,p.Gln479Lys,ENST00000327245,NM_025153.2;ATP10B,missense_variant,p.Gln87Lys,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;ATP10B,downstream_gene_variant,,ENST00000326831,;ATP10B,downstream_gene_variant,,ENST00000517802,;ATP10B,downstream_gene_variant,,ENST00000521033,;	T	ENST00000327245	Transcript	missense_variant	2282/7566	1435/4386	479/1461	Q/K	Caa/Aaa		1		-1	ATP10B	HGNC	HGNC:13543	protein_coding	YES	CCDS43394.1	ENSP00000313600	O94823		UPI0000191DAE	NM_025153.2	tolerated(1)		13/26		hmmpanther:PTHR24092:SF79,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	160632314	160632314	G	T	1	0	0	0	0	1	0	0	0	1269	1357	47	2		2	ATP10B	5	160632314	Missense_Mutation	SNP	G	C3N-01016_TP	217108	160632314	20905945	139	21708											
FAM196B	0	.	GRCh38	chr5	169883693	169883693	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatggtgcctggttgctTgagtcttccccatcacagcc	7	11	11	12	0	2	2	1	1	1	1	3	3	3	2	4	2	3	2	4	2	1	3	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.206A>T	p.Gln69Leu	p.Q69L	ENST00000377365	2/4	53	43	10	56	56	0	strelka-varscan-mutect	FAM196B,missense_variant,p.Gln69Leu,ENST00000377365,NM_001129891.1;DOCK2,intron_variant,,ENST00000256935,NM_004946.2;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;	A	ENST00000377365	Transcript	missense_variant	1588/2999	206/1608	69/535	Q/L	cAa/cTa		1		-1	FAM196B	HGNC	HGNC:37271	protein_coding	YES	CCDS47336.1	ENSP00000366582	A6NMK8		UPI0000480500	NM_001129891.1	deleterious(0.01)		2/4		Pfam_domain:PF15265,hmmpanther:PTHR28682,hmmpanther:PTHR28682:SF2																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	67	169883693	169883693	T	A	1	0	0	0	0	1	0	0	0	5374	1812	63	4		4	FAM196B	5	169883693	Missense_Mutation	SNP	T	C3N-01016_TP	9251379	169883693	11654566	140	21709											
SIRT5	0	.	GRCh38	chr6	13596970	13596970	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttacttcagtgctccaGaacctggaactcaagatgcc	11	12	7	11	0	2	2	2	0	0	2	3	3	3	3	3	1	5	1	3	1	5	4	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.571G>T	p.Glu191Ter	p.E191*	ENST00000606117	7/10	160	105	55	185	185	0	strelka-varscan-mutect	SIRT5,stop_gained,p.Glu83Ter,ENST00000397350,NM_001242827.1;SIRT5,stop_gained,p.Glu191Ter,ENST00000606117,NM_012241.4;SIRT5,stop_gained,p.Glu191Ter,ENST00000379262,NM_031244.3;SIRT5,intron_variant,,ENST00000359782,NM_001193267.2;SIRT5,3_prime_UTR_variant,,ENST00000379250,;	T	ENST00000606117	Transcript	stop_gained	867/3922	571/933	191/310	E/*	Gaa/Taa		1		1	SIRT5	HGNC	HGNC:14933	protein_coding	YES	CCDS4526.1	ENSP00000476228	Q9NXA8	A0A024R012	UPI0000073EB3	NM_012241.4			7/10		Gene3D:3.30.1600.10,HAMAP:MF_01121,Pfam_domain:PF02146,PROSITE_profiles:PS50305,hmmpanther:PTHR11085,hmmpanther:PTHR11085:SF24,Superfamily_domains:SSF52467																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	67	13596970	13596970	G	T	1	0	0	0	0	0	1	0	0	14604	943	33	2		2	SIRT5	6	13596970	Nonsense_Mutation	SNP	G	C3N-01016_TP		13596970	157209009	141	21710											
GPX6	0	.	GRCh38	chr6	28504416	28504416	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaatttctcaaagttcCagcggatatcatggaccttc	12	11	7	11	1	2	1	2	0	1	1	5	3	3	3	3	2	1	1	3	2	3	4			C3N-01016_TP	C3N-01016_NB	C	C																c.542G>A	p.Trp181Ter	p.W181*	ENST00000361902	5/5	367	306	61	395	395	0	strelka-varscan-mutect	GPX6,stop_gained,p.Trp181Ter,ENST00000361902,NM_182701.1;GPX6,stop_gained,p.Trp180Ter,ENST00000612264,;GPX6,missense_variant,p.Gly148Arg,ENST00000474923,;GPX6,downstream_gene_variant,,ENST00000483058,;	T	ENST00000361902	Transcript	stop_gained	592/1712	542/666	181/221	W/*	tGg/tAg	COSM3623754	1		-1	GPX6	HGNC	HGNC:4558	protein_coding	YES	CCDS43432.1	ENSP00000354581	P59796		UPI00001B2975	NM_182701.1			5/5		Gene3D:3.40.30.10,PIRSF_domain:PIRSF000303,Prints_domain:PR01011,PROSITE_profiles:PS51355,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF15,Superfamily_domains:SSF52833											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	67	28504416	28504416	C	T	1	0	0	0	0	0	1	0	0	6623	604	21	3		3	GPX6	6	28504416	Nonsense_Mutation	SNP	C	C3N-01016_TP	14907446	28504416	142301563	142	21711											
TNXB	0	.	GRCh38	chr6	32061433	32061433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaccgggcccacgcgccGcccctcgtggaggccataca	7	3	13	18	5	0	0	0	0	0	0	1	2	0	2	6	4	1	0	6	4	1	1	rs752650618		C3N-01016_TP	C3N-01016_NB	G	G																c.7456C>T	p.Arg2486Trp	p.R2486W	ENST00000375244	21/44	196	167	29	148	147	1	strelka-varscan-mutect	TNXB,missense_variant,p.Arg2486Trp,ENST00000375244,NM_019105.6;TNXB,missense_variant,p.Arg206Trp,ENST00000611016,;TNXB,downstream_gene_variant,,ENST00000613214,;	A	ENST00000375244	Transcript	missense_variant	7658/13132	7456/12735	2486/4244	R/W	Cgg/Tgg	rs752650618,COSM3347950,COSM3347951	1		-1	TNXB	HGNC	HGNC:11976	protein_coding			ENSP00000364393	P22105	E7EPZ9	UPI0001B798E9	NM_019105.6	deleterious(0)		21/44		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs752650618	.												A	3	1	67	32061433	32061433	G	A	1	0	0	0	0	1	0	0	0	16820	1086	38	1		1	TNXB	6	32061433	Missense_Mutation	SNP	G	C3N-01016_TP	3557017	32061433	138744546	143	21712											
TNXB	0	.	GRCh38	chr6	32067939	32067939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcctcagcgggctccgggGcctccatgctgggttctgtg	2	10	15	14	2	2	0	1	0	1	0	5	0	5	0	4	4	2	4	4	4	0	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.6266C>A	p.Ala2089Asp	p.A2089D	ENST00000375244	18/44	217	169	48	166	166	0	strelka-varscan-mutect	TNXB,missense_variant,p.Ala2089Asp,ENST00000375244,NM_019105.6;TNXB,3_prime_UTR_variant,,ENST00000613214,;	T	ENST00000375244	Transcript	missense_variant	6468/13132	6266/12735	2089/4244	A/D	gCc/gAc		1		-1	TNXB	HGNC	HGNC:11976	protein_coding			ENSP00000364393	P22105	E7EPZ9	UPI0001B798E9	NM_019105.6	tolerated(0.07)		18/44		Low_complexity_(Seg):seg,Gene3D:2.60.40.10																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	67	32067939	32067939	G	T	1	0	0	0	0	1	0	0	0	16820	1203	42	2		2	TNXB	6	32067939	Missense_Mutation	SNP	G	C3N-01016_TP	6506	32067939	138738040	144	21713											
MDGA1	0	.	GRCh38	chr6	37650214	37650214	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catgtctcggctcactcgctCcagccgcagcttcccgtccg	4	9	9	19	5	2	0	1	0	1	0	7	0	5	0	4	1	2	4	4	1	0	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1504G>C	p.Glu502Gln	p.E502Q	ENST00000434837	8/17	133	87	46	93	93	0	strelka-varscan-mutect	MDGA1,missense_variant,p.Glu502Gln,ENST00000434837,NM_153487.3;MDGA1,missense_variant,p.Glu502Gln,ENST00000505425,;MDGA1,upstream_gene_variant,,ENST00000418178,;MDGA1,upstream_gene_variant,,ENST00000510077,;MDGA1,non_coding_transcript_exon_variant,,ENST00000478143,;MDGA1,upstream_gene_variant,,ENST00000502298,;	G	ENST00000434837	Transcript	missense_variant	2683/10736	1504/2868	502/955	E/Q	Gag/Cag		1		-1	MDGA1	HGNC	HGNC:19267	protein_coding	YES	CCDS47417.1	ENSP00000402584	Q8NFP4		UPI0000071D28	NM_153487.3	tolerated(0.58)		8/17		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF66,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	67	37650214	37650214	C	G	1	0	0	0	0	1	0	0	0	9344	864	30	4		4	MDGA1	6	37650214	Missense_Mutation	SNP	C	C3N-01016_TP	5582275	37650214	133155765	145	21714											
BTBD9	0	.	GRCh38	chr6	38597942	38597942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctggctgctaaaattacCctgtgggcaggaaaacgttt	11	10	10	10	1	0	0	0	0	0	0	0	1	0	1	2	3	3	4	2	3	5	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.153G>T	p.Arg51Ser	p.R51S	ENST00000481247	2/11	143	109	34	129	129	0	strelka-varscan-mutect	BTBD9,missense_variant,p.Arg51Ser,ENST00000481247,NM_052893.1,NM_001099272.1;BTBD9,missense_variant,p.Arg51Ser,ENST00000403056,;BTBD9,missense_variant,p.Arg51Ser,ENST00000498633,;BTBD9,5_prime_UTR_variant,,ENST00000497373,;BTBD9,upstream_gene_variant,,ENST00000314100,NM_152733.2;BTBD9,upstream_gene_variant,,ENST00000419706,NM_001172418.1;BTBD9,upstream_gene_variant,,ENST00000408958,;BTBD9,upstream_gene_variant,,ENST00000328403,;	A	ENST00000481247	Transcript	missense_variant	305/8525	153/1839	51/612	R/S	agG/agT		1		-1	BTBD9	HGNC	HGNC:21228	protein_coding	YES	CCDS47418.1	ENSP00000418751	Q96Q07		UPI00001C040E	NM_052893.1,NM_001099272.1	deleterious(0)		2/11		PROSITE_profiles:PS50097,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF79,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV	5			1										PASS		rs1477598121	.												A	3	1	67	38597942	38597942	C	A	1	0	0	0	0	1	0	0	0	1724	622	22	2		2	BTBD9	6	38597942	Missense_Mutation	SNP	C	C3N-01016_TP	947728	38597942	132208037	146	21715											
SLC22A7	0	.	GRCh38	chr6	43299450	43299450	+	Missense_Mutation	SNP	G	G	T																															cgtccactttcttcttcgccGgtgtgctggtgggggctgtg																								rs753438428		C3N-01016_TP	C3N-01016_NB	G	G																c.460G>T	p.Gly154Cys	p.G154C	ENST00000372585	3/11	135	114	21	104	103	1	strelka-varscan-mutect	SLC22A7,missense_variant,p.Gly154Cys,ENST00000372585,NM_153320.2;SLC22A7,missense_variant,p.Gly152Cys,ENST00000372589,NM_006672.3;SLC22A7,missense_variant,p.Gly152Cys,ENST00000372574,;SLC22A7,missense_variant,p.Gly213Cys,ENST00000449231,;SLC22A7,missense_variant,p.Gly23Cys,ENST00000451757,;SLC22A7,upstream_gene_variant,,ENST00000436107,;CRIP3,downstream_gene_variant,,ENST00000416431,;SLC22A7,non_coding_transcript_exon_variant,,ENST00000487175,;SLC22A7,non_coding_transcript_exon_variant,,ENST00000480882,;SLC22A7,3_prime_UTR_variant,,ENST00000498232,;	T	ENST00000372585	Transcript	missense_variant	555/2555	460/1647	154/548	G/C	Ggt/Tgt	rs753438428	1		1	SLC22A7	HGNC	HGNC:10971	protein_coding	YES	CCDS4893.2	ENSP00000361666	Q9Y694		UPI000006F307	NM_153320.2	deleterious(0)		3/11		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF33,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00898,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		rs753438428	.												T	3	4	67	43299450	43299450	G	T	1	0	0	0	0	1	0	0	0	14725	1116	39	1		1	SLC22A7	6	43299450	Missense_Mutation	SNP	G	C3N-01016_TP	4701508	43299450	127506529	147	21716	461	2									
SLC22A7	0	.	GRCh38	chr6	43299451	43299451	+	Missense_Mutation	SNP	G	G	T																															gtccactttcttcttcgccgGtgtgctggtgggggctgtgg																								rs758801569		C3N-01016_TP	C3N-01016_NB	G	G																c.461G>T	p.Gly154Val	p.G154V	ENST00000372585	3/11	130	110	20	99	98	1	strelka-varscan-mutect	SLC22A7,missense_variant,p.Gly154Val,ENST00000372585,NM_153320.2;SLC22A7,missense_variant,p.Gly152Val,ENST00000372589,NM_006672.3;SLC22A7,missense_variant,p.Gly152Val,ENST00000372574,;SLC22A7,missense_variant,p.Gly213Val,ENST00000449231,;SLC22A7,missense_variant,p.Gly23Val,ENST00000451757,;SLC22A7,upstream_gene_variant,,ENST00000436107,;CRIP3,downstream_gene_variant,,ENST00000416431,;SLC22A7,non_coding_transcript_exon_variant,,ENST00000487175,;SLC22A7,non_coding_transcript_exon_variant,,ENST00000480882,;SLC22A7,3_prime_UTR_variant,,ENST00000498232,;	T	ENST00000372585	Transcript	missense_variant	556/2555	461/1647	154/548	G/V	gGt/gTt	rs758801569	1		1	SLC22A7	HGNC	HGNC:10971	protein_coding	YES	CCDS4893.2	ENSP00000361666	Q9Y694		UPI000006F307	NM_153320.2	deleterious(0)		3/11		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF33,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00898,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		rs758801569	.												T	3	4	67	43299451	43299451	G	T	1	0	0	0	0	1	0	0	0	14725	1261	44	2		2	SLC22A7	6	43299451	Missense_Mutation	SNP	G	C3N-01016_TP	1	43299451	127506528	148	21717	461	2									
TNFRSF21	0	.	GRCh38	chr6	47286107	47286107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcttgatcaccaccaggttCtgactcagacagtctgtgta	9	11	10	11	0	4	3	2	2	2	1	4	3	4	3	2	2	0	3	2	2	1	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.585G>C	p.Gln195His	p.Q195H	ENST00000296861	2/6	504	421	83	440	440	0	strelka-varscan-mutect	TNFRSF21,missense_variant,p.Gln195His,ENST00000296861,NM_014452.4;	G	ENST00000296861	Transcript	missense_variant	979/3595	585/1968	195/655	Q/H	caG/caC		1		-1	TNFRSF21	HGNC	HGNC:13469	protein_coding	YES	CCDS4921.1	ENSP00000296861	O75509	A0A024RD71	UPI000004680F	NM_014452.4	tolerated(0.52)		2/6		hmmpanther:PTHR23097:SF127,hmmpanther:PTHR23097,Pfam_domain:PF00020,SMART_domains:SM00208																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	67	47286107	47286107	C	G	1	0	0	0	0	1	0	0	0	16769	912	32	4		4	TNFRSF21	6	47286107	Missense_Mutation	SNP	C	C3N-01016_TP	3986656	47286107	123519872	149	21718											
ADGRB3	0	.	GRCh38	chr6	68638859	68638859	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacttggacgctggaaaatCcagatccaaccaaatatagc	15	7	8	11	1	0	1	0	0	0	1	2	3	2	3	3	2	2	2	3	2	6	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.184C>A	p.Pro62Thr	p.P62T	ENST00000370598	3/32	224	192	32	165	165	0	strelka-varscan-mutect	ADGRB3,missense_variant,p.Pro62Thr,ENST00000370598,NM_001704.2;ADGRB3,missense_variant,p.Pro62Thr,ENST00000546190,;RP3-525N10.2,upstream_gene_variant,,ENST00000604392,;RP3-525N10.2,upstream_gene_variant,,ENST00000603261,;RP3-525N10.2,upstream_gene_variant,,ENST00000419979,;	A	ENST00000370598	Transcript	missense_variant	1005/6010	184/4569	62/1522	P/T	Cca/Aca		1		1	ADGRB3	HGNC	HGNC:945	protein_coding	YES	CCDS4968.1	ENSP00000359630	O60242		UPI00001AE6A9	NM_001704.2	deleterious(0)		3/32		PROSITE_profiles:PS01180,Prints_domain:PR01694																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	68638859	68638859	C	A	1	0	0	0	0	1	0	0	0	357	855	30	2		2	ADGRB3	6	68638859	Missense_Mutation	SNP	C	C3N-01016_TP	21352752	68638859	102167120	150	21719											
BCKDHB	0	.	GRCh38	chr6	80171298	80171298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggttatacccagaaGccctttccaggccaaaggac	11	7	11	12	0	0	1	0	0	0	1	1	2	1	2	4	4	2	2	4	4	4	3	rs779760508		C3N-01016_TP	C3N-01016_NB	G	G																c.650G>A	p.Ser217Asn	p.S217N	ENST00000320393	6/10	288	246	42	204	204	0	strelka-varscan-mutect	BCKDHB,missense_variant,p.Ser217Asn,ENST00000320393,NM_001318975.1,NM_183050.2;BCKDHB,missense_variant,p.Ser217Asn,ENST00000356489,NM_000056.3;BCKDHB,downstream_gene_variant,,ENST00000369760,;	A	ENST00000320393	Transcript	missense_variant	697/3692	650/1179	217/392	S/N	aGc/aAc	rs779760508	1		1	BCKDHB	HGNC	HGNC:987	protein_coding	YES	CCDS4994.1	ENSP00000318351	P21953	A0A140VKB3	UPI0000001C97	NM_001318975.1,NM_183050.2	tolerated(0.24)		6/10		Gene3D:3.40.50.970,Pfam_domain:PF02779,hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF21,SMART_domains:SM00861,Superfamily_domains:SSF52518																	MODERATE	1	SNV	1			1										PASS		rs779760508	.												A	3	1	67	80171298	80171298	G	A	1	0	0	0	0	1	0	0	0	1507	971	34	3		3	BCKDHB	6	80171298	Missense_Mutation	SNP	G	C3N-01016_TP	11532439	80171298	90634681	151	21720											
SYNCRIP	0	.	GRCh38	chr6	85615090	85615090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taccgcggggaggagcagccCcacgacctctggatggagca	9	4	15	13	3	1	0	0	0	1	0	1	5	1	4	4	5	4	2	4	5	1	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1538G>C	p.Gly513Ala	p.G513A	ENST00000369622	11/11	197	158	39	175	175	0	strelka-varscan-mutect	SYNCRIP,missense_variant,p.Gly415Ala,ENST00000616122,NM_001253771.1,NM_001159673.1;SYNCRIP,missense_variant,p.Gly513Ala,ENST00000355238,NM_001159676.1,NM_001159674.1,NM_001159677.1;SYNCRIP,missense_variant,p.Gly513Ala,ENST00000369622,NM_006372.4,NM_001159675.1;RP11-321N4.5,missense_variant,p.Gly49Ala,ENST00000503906,;	G	ENST00000369622	Transcript	missense_variant	2039/3023	1538/1872	513/623	G/A	gGg/gCg		1		-1	SYNCRIP	HGNC	HGNC:16918	protein_coding	YES	CCDS5005.1	ENSP00000358635	O60506		UPI000013CF84	NM_006372.4,NM_001159675.1	deleterious(0.03)		11/11		Low_complexity_(Seg):seg,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF440,TIGRFAM_domain:TIGR01648																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	67	85615090	85615090	C	G	1	0	0	0	0	1	0	0	0	15834	623	22	4		4	SYNCRIP	6	85615090	Missense_Mutation	SNP	C	C3N-01016_TP	5443792	85615090	85190889	152	21721											
FUT9	0	.	GRCh38	chr6	96204040	96204040	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagattataactctccCagtgagctagcaaagtatct	13	11	9	8	0	2	2	0	1	2	1	3	3	2	3	1	1	3	3	1	1	6	4	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.885C>A	p.=	p.P295P	ENST00000302103	3/3	53	46	7	33	33	0	strelka-varscan-mutect	FUT9,synonymous_variant,p.=,ENST00000302103,NM_006581.3;	A	ENST00000302103	Transcript	synonymous_variant	1211/12783	885/1080	295/359	P	ccC/ccA		1		1	FUT9	HGNC	HGNC:4020	protein_coding	YES	CCDS5033.1	ENSP00000302599	Q9Y231		UPI000013E792	NM_006581.3			3/3		Pfam_domain:PF00852,hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF10,Superfamily_domains:SSF53756																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	67	96204040	96204040	C	A	1	0	0	0	0	0	0	0	1	5983	581	21	2		2	FUT9	6	96204040	Silent	SNP	C	C3N-01016_TP	10588950	96204040	74601939	153	21722											
KLHL32	0	.	GRCh38	chr6	97114009	97114009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcgcaggaccaaaccacGattccagtcagacactctgt	12	7	8	14	2	2	1	1	0	1	1	4	4	3	2	3	1	1	1	3	1	1	1			C3N-01016_TP	C3N-01016_NB	G	G																c.854G>T	p.Arg285Leu	p.R285L	ENST00000369261	7/11	271	239	32	236	236	0	strelka-varscan-mutect	KLHL32,missense_variant,p.Arg249Leu,ENST00000536676,NM_001286250.1;KLHL32,missense_variant,p.Arg285Leu,ENST00000369261,NM_001323260.1,NM_052904.3;KLHL32,missense_variant,p.Arg216Leu,ENST00000539200,NM_001286251.1;KLHL32,3_prime_UTR_variant,,ENST00000447886,;KLHL32,intron_variant,,ENST00000544166,;KLHL32,intron_variant,,ENST00000620278,NM_001286254.1;KLHL32,intron_variant,,ENST00000369254,;	T	ENST00000369261	Transcript	missense_variant	1217/3698	854/1863	285/620	R/L	cGa/cTa	COSM3179130	1		1	KLHL32	HGNC	HGNC:21221	protein_coding	YES	CCDS5038.1	ENSP00000358265	Q96NJ5		UPI000020DFAB	NM_001323260.1,NM_052904.3	deleterious(0)		7/11		PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF65											1						MODERATE	1	SNV	2		1	1										PASS		rs1198441138	.												T	3	4	67	97114009	97114009	G	T	1	0	0	0	0	1	0	0	0	8251	1058	37	1		1	KLHL32	6	97114009	Missense_Mutation	SNP	G	C3N-01016_TP	909969	97114009	73691970	154	21723											
GPRC6A	0	.	GRCh38	chr6	116800622	116800622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attttttgtttcctgatctgGgatgatgaagacatcattct	9	18	8	6	0	3	4	1	3	2	1	4	5	4	5	1	1	0	1	1	1	1	5	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1510C>T	p.Pro504Ser	p.P504S	ENST00000310357	4/6	226	152	74	198	198	0	strelka-varscan-mutect	GPRC6A,missense_variant,p.Pro504Ser,ENST00000310357,NM_148963.3;GPRC6A,missense_variant,p.Pro329Ser,ENST00000530250,NM_001286354.1;GPRC6A,intron_variant,,ENST00000368549,NM_001286355.1;	A	ENST00000310357	Transcript	missense_variant	1532/2860	1510/2781	504/926	P/S	Cca/Tca		1		-1	GPRC6A	HGNC	HGNC:18510	protein_coding	YES	CCDS5112.1	ENSP00000309493	Q5T6X5		UPI000013EFF9	NM_148963.3	tolerated(0.71)		4/6		hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	116800622	116800622	G	A	1	0	0	0	0	1	0	0	0	6607	1232	43	3		3	GPRC6A	6	116800622	Missense_Mutation	SNP	G	C3N-01016_TP	19686613	116800622	54005357	155	21724											
CLVS2	0	.	GRCh38	chr6	123011047	123011047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagccatgattgaagatcCtgagcttcaagtgaatgggt	13	10	12	6	0	1	6	1	4	0	2	2	6	2	6	2	1	2	1	2	1	4	2			C3N-01016_TP	C3N-01016_NB	C	C																c.452C>A	p.Pro151His	p.P151H	ENST00000275162	3/6	149	102	47	156	156	0	strelka-varscan-mutect	CLVS2,missense_variant,p.Pro151His,ENST00000275162,NM_001010852.3;CLVS2,missense_variant,p.Pro5His,ENST00000368438,;	A	ENST00000275162	Transcript	missense_variant	1787/11485	452/984	151/327	P/H	cCt/cAt	COSM3620102,COSM3620103	1		1	CLVS2	HGNC	HGNC:23046	protein_coding	YES	CCDS34525.1	ENSP00000275162	Q5SYC1		UPI000013DA49	NM_001010852.3	tolerated(0.06)		3/6		PROSITE_profiles:PS50191,hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF73,Pfam_domain:PF00650,Gene3D:3.40.525.10,SMART_domains:SM00516,Superfamily_domains:SSF52087											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	67	123011047	123011047	C	A	1	0	0	0	0	1	0	0	0	3345	681	24	2		2	CLVS2	6	123011047	Missense_Mutation	SNP	C	C3N-01016_TP	6210425	123011047	47794932	156	21725											
TXLNB	0	.	GRCh38	chr6	139270489	139270489	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtgtctctgcagctcccgGcacagactctccaatttgct	6	13	8	14	1	2	1	0	0	2	1	5	1	3	1	2	1	3	4	2	1	1	2	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.654C>A	p.Cys218Ter	p.C218*	ENST00000358430	4/10	193	122	71	152	152	0	strelka-varscan-mutect	TXLNB,stop_gained,p.Cys218Ter,ENST00000358430,NM_153235.3;RP11-445F6.2,upstream_gene_variant,,ENST00000441249,;RP1-225E12.3,non_coding_transcript_exon_variant,,ENST00000616537,;RP1-225E12.3,non_coding_transcript_exon_variant,,ENST00000621913,;RP1-225E12.3,non_coding_transcript_exon_variant,,ENST00000612486,;	T	ENST00000358430	Transcript	stop_gained	887/4753	654/2055	218/684	C/*	tgC/tgA		1		-1	TXLNB	HGNC	HGNC:21617	protein_coding	YES	CCDS34545.1	ENSP00000351206	Q8N3L3		UPI0000072983	NM_153235.3			4/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16127,hmmpanther:PTHR16127:SF10,Pfam_domain:PF09728																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	67	139270489	139270489	G	T	1	0	0	0	0	0	1	0	0	17304	1195	42	2		2	TXLNB	6	139270489	Nonsense_Mutation	SNP	G	C3N-01016_TP	16259442	139270489	31535490	157	21726											
SYNE1	0	.	GRCh38	chr6	152472413	152472413	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atccgtgttttgaagcagatCctaagatacagtttaaaaaa	16	12	7	6	1	0	3	0	1	0	2	2	3	2	3	2	0	2	3	2	0	6	6	rs764265403		C3N-01016_TP	C3N-01016_NB	C	C																c.1351G>C	p.Asp451His	p.D451H	ENST00000367255	15/146	252	221	31	207	207	0	strelka-mutect	SYNE1,missense_variant,p.Asp451His,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Asp458His,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Asp441His,ENST00000341594,;SYNE1,missense_variant,p.Asp441His,ENST00000367248,;SYNE1,missense_variant,p.Asp451His,ENST00000367253,;SYNE1,missense_variant,p.Asp451His,ENST00000413186,;SYNE1,missense_variant,p.Asp434His,ENST00000537750,;SYNE1,missense_variant,p.Asp451His,ENST00000466159,;SYNE1,missense_variant,p.Asp18His,ENST00000495090,;SYNE1,splice_region_variant,,ENST00000535896,;SYNE1,upstream_gene_variant,,ENST00000481502,;SYNE1,missense_variant,p.Asp17His,ENST00000474655,;SYNE1,splice_region_variant,,ENST00000461872,;SYNE1,non_coding_transcript_exon_variant,,ENST00000468937,;	G	ENST00000367255	Transcript	missense_variant,splice_region_variant	1953/27748	1351/26394	451/8797	D/H	Gat/Cat	rs764265403	1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			15/146		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267																	MODERATE	1	SNV	1			1										PASS		rs764265403	.												G	3	3	67	152472413	152472413	C	G	1	0	0	0	0	1	0	0	0	15837	869	30	4		4	SYNE1	6	152472413	Missense_Mutation	SNP	C	C3N-01016_TP	13201924	152472413	18333566	158	21727											
PLG	0	.	GRCh38	chr6	160731082	160731082	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaactactgcaggaatccaGatgccgataaaggcccctgg	12	7	11	11	1	0	2	0	1	0	1	1	4	1	3	4	3	4	1	4	3	5	2	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1288G>C	p.Asp430His	p.D430H	ENST00000308192	11/19	195	154	41	170	170	0	strelka-varscan-mutect	PLG,missense_variant,p.Asp430His,ENST00000308192,NM_000301.3;PLG,non_coding_transcript_exon_variant,,ENST00000297289,;PLG,non_coding_transcript_exon_variant,,ENST00000493435,;	C	ENST00000308192	Transcript	missense_variant	1351/2741	1288/2433	430/810	D/H	Gat/Cat		1		1	PLG	HGNC	HGNC:9071	protein_coding	YES	CCDS5279.1	ENSP00000308938	P00747		UPI000000D8B8	NM_000301.3	deleterious(0)		11/19		Gene3D:2.40.20.10,Pfam_domain:PF00051,PIRSF_domain:PIRSF001150,Prints_domain:PR00018,PROSITE_patterns:PS00021,PROSITE_profiles:PS50070,hmmpanther:PTHR24261,hmmpanther:PTHR24261:SF2,SMART_domains:SM00130,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	67	160731082	160731082	G	C	1	0	0	0	0	1	0	0	0	12181	942	33	4		4	PLG	6	160731082	Missense_Mutation	SNP	G	C3N-01016_TP	8258669	160731082	10074897	159	21728											
GET4	0	.	GRCh38	chr7	893909	893909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccttgcagtacctcgaccGcataggacagctgttcttcg	7	11	10	13	3	1	0	0	0	1	0	3	2	1	1	3	1	4	5	3	1	2	5	rs764382449		C3N-01016_TP	C3N-01016_NB	G	G																c.833G>A	p.Arg278His	p.R278H	ENST00000265857	8/9	110	92	18	79	79	0	strelka-varscan-mutect	GET4,missense_variant,p.Arg225His,ENST00000407192,;GET4,missense_variant,p.Arg278His,ENST00000265857,NM_015949.2;ADAP1,downstream_gene_variant,,ENST00000265846,NM_006869.3;ADAP1,downstream_gene_variant,,ENST00000539900,NM_001284308.1;ADAP1,downstream_gene_variant,,ENST00000611167,NM_001284309.1;ADAP1,downstream_gene_variant,,ENST00000449296,NM_001284310.1;ADAP1,downstream_gene_variant,,ENST00000446141,;ADAP1,downstream_gene_variant,,ENST00000617043,NM_001284311.1;GET4,downstream_gene_variant,,ENST00000412734,;GET4,downstream_gene_variant,,ENST00000426056,;SUN1,3_prime_UTR_variant,,ENST00000457861,;GET4,non_coding_transcript_exon_variant,,ENST00000464468,;ADAP1,downstream_gene_variant,,ENST00000495809,;ADAP1,downstream_gene_variant,,ENST00000478000,;COX19,downstream_gene_variant,,ENST00000457254,;GET4,downstream_gene_variant,,ENST00000483469,;	A	ENST00000265857	Transcript	missense_variant	927/2090	833/984	278/327	R/H	cGc/cAc	rs764382449	1		1	GET4	HGNC	HGNC:21690	protein_coding	YES	CCDS5317.1	ENSP00000265857	Q7L5D6		UPI00001AE543	NM_015949.2	deleterious(0)		8/9		hmmpanther:PTHR12875:SF0,hmmpanther:PTHR12875,Pfam_domain:PF04190																	MODERATE	1	SNV	1			1										PASS		rs764382449	.												A	3	1	67	893909	893909	G	A	1	0	0	0	0	1	0	0	0	6210	1087	38	1		1	GET4	7	893909	Missense_Mutation	SNP	G	C3N-01016_TP		893909	158452064	160	21729											
CYP2W1	0	.	GRCh38	chr7	987377	987377	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagctagaccgcgtgcTgggccctgggcggactcccc	5	5	17	14	3	0	1	0	0	0	1	1	4	1	4	4	5	2	2	4	5	1	1	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.989T>A	p.Leu330Gln	p.L330Q	ENST00000308919	7/9	86	62	24	90	90	0	strelka-varscan-mutect	CYP2W1,missense_variant,p.Leu274Gln,ENST00000340150,;CYP2W1,missense_variant,p.Leu330Gln,ENST00000308919,NM_017781.2;CYP2W1,missense_variant,p.Leu104Gln,ENST00000415893,;CYP2W1,non_coding_transcript_exon_variant,,ENST00000468456,;CYP2W1,downstream_gene_variant,,ENST00000462453,;	A	ENST00000308919	Transcript	missense_variant	1002/2304	989/1473	330/490	L/Q	cTg/cAg		1		1	CYP2W1	HGNC	HGNC:20243	protein_coding	YES	CCDS5319.2	ENSP00000310149	Q8TAV3		UPI000013C59A	NM_017781.2	deleterious(0)		7/9		hmmpanther:PTHR24300:SF183,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	987377	987377	T	A	1	0	0	0	0	1	0	0	0	3979	1580	55	4		4	CYP2W1	7	987377	Missense_Mutation	SNP	T	C3N-01016_TP	93468	987377	158358596	161	21730											
SDK1	0	.	GRCh38	chr7	4114100	4114100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacaggattaagtactggCgctcagacctccagtcctca	10	9	9	13	1	2	1	2	0	0	1	4	2	4	2	3	2	2	3	3	2	3	3	rs758661396		C3N-01016_TP	C3N-01016_NB	C	C																c.3649C>T	p.Arg1217Cys	p.R1217C	ENST00000404826	25/45	489	362	127	404	404	0	strelka-varscan-mutect	SDK1,missense_variant,p.Arg1217Cys,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Arg1217Cys,ENST00000615806,;SDK1,missense_variant,p.Arg1217Cys,ENST00000389531,;	T	ENST00000404826	Transcript	missense_variant	3788/10397	3649/6642	1217/2213	R/C	Cgc/Tgc	rs758661396,COSM272023	1		1	SDK1	HGNC	HGNC:19307	protein_coding	YES	CCDS34590.1	ENSP00000385899	Q7Z5N4		UPI0000DBEEC4	NM_152744.3	deleterious(0.04)		25/45		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF36,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs758661396	.												T	3	4	67	4114100	4114100	C	T	1	0	0	0	0	1	0	0	0	14243	768	27	1		1	SDK1	7	4114100	Missense_Mutation	SNP	C	C3N-01016_TP	3126723	4114100	155231873	162	21731											
RADIL	0	.	GRCh38	chr7	4799678	4799678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccattcacctccaggataCggtcccccagcgacaggcgc	8	6	10	17	3	1	0	1	0	0	0	3	2	3	1	5	3	3	0	5	3	1	2	rs766532873		C3N-01016_TP	C3N-01016_NB	C	C																c.3074G>T	p.Arg1025Leu	p.R1025L	ENST00000399583	14/15	115	82	33	109	109	0	strelka-varscan-mutect	RADIL,missense_variant,p.Arg1025Leu,ENST00000399583,NM_018059.4;RADIL,3_prime_UTR_variant,,ENST00000445392,;RADIL,non_coding_transcript_exon_variant,,ENST00000473130,;RADIL,non_coding_transcript_exon_variant,,ENST00000472999,;	A	ENST00000399583	Transcript	missense_variant	3262/3689	3074/3228	1025/1075	R/L	cGt/cTt	rs766532873	1		-1	RADIL	HGNC	HGNC:22226	protein_coding	YES	CCDS43544.1	ENSP00000382492	Q96JH8		UPI0000E0A787	NM_018059.4	deleterious(0)		14/15		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	5			1										PASS		rs766532873	.												A	3	1	67	4799678	4799678	C	A	1	0	0	0	0	1	0	0	0	13158	536	19	1		1	RADIL	7	4799678	Missense_Mutation	SNP	C	C3N-01016_TP	685578	4799678	154546295	163	21732											
PCLO	0	.	GRCh38	chr7	82950136	82950136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccttgatctagtaggCatatcccactcatcctgatc	8	14	5	14	0	2	2	1	2	1	0	7	2	6	2	4	1	0	2	4	1	3	5	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.10452G>T	p.Met3484Ile	p.M3484I	ENST00000333891	6/25	241	206	35	247	247	0	strelka-varscan	PCLO,missense_variant,p.Met3484Ile,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Met3484Ile,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Met204Ile,ENST00000437081,;	A	ENST00000333891	Transcript	missense_variant	10790/20329	10452/15429	3484/5142	M/I	atG/atT		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	tolerated(0.4)		6/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	67	82950136	82950136	C	A	1	0	0	0	0	1	0	0	0	11671	710	25	2		2	PCLO	7	82950136	Missense_Mutation	SNP	C	C3N-01016_TP	78150458	82950136	76395837	164	21733											
AKAP9	0	.	GRCh38	chr7	91994659	91994659	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattaaacaaagagatggCattataacccagctcactgc	15	8	7	11	0	1	1	1	0	0	1	1	2	1	1	2	1	4	2	2	1	5	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.615C>T	p.=	p.G205G	ENST00000356239	6/50	183	148	35	63	63	0	strelka-varscan	AKAP9,synonymous_variant,p.=,ENST00000356239,NM_005751.4,NM_147185.2;AKAP9,synonymous_variant,p.=,ENST00000359028,;AKAP9,synonymous_variant,p.=,ENST00000358100,;AKAP9,synonymous_variant,p.=,ENST00000619023,;AKAP9,synonymous_variant,p.=,ENST00000394564,;AKAP9,synonymous_variant,p.=,ENST00000438114,;AKAP9,non_coding_transcript_exon_variant,,ENST00000493453,;	T	ENST00000356239	Transcript	synonymous_variant	848/12471	615/11724	205/3907	G	ggC/ggT		1		1	AKAP9	HGNC	HGNC:379	protein_coding	YES	CCDS5622.1	ENSP00000348573	Q99996		UPI000002A38D	NM_005751.4,NM_147185.2			6/50																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	67	91994659	91994659	C	T	1	0	0	0	0	0	0	0	1	543	697	25	3		3	AKAP9	7	91994659	Silent	SNP	C	C3N-01016_TP	9044523	91994659	67351314	165	21734											
FOXP2	0	.	GRCh38	chr7	114658217	114658217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccagtgtgcccaatgtggGagccatacgaaggcgacatt	11	7	13	10	2	0	0	0	0	0	0	0	3	0	1	3	2	4	0	3	2	3	2	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1493G>T	p.Gly498Val	p.G498V	ENST00000408937	12/18	285	222	63	318	318	0	strelka-varscan	FOXP2,missense_variant,p.Gly498Val,ENST00000408937,NM_148898.3;FOXP2,missense_variant,p.Gly490Val,ENST00000403559,NM_148900.3;FOXP2,missense_variant,p.Gly470Val,ENST00000635534,;FOXP2,missense_variant,p.Gly456Val,ENST00000634411,;FOXP2,missense_variant,p.Gly473Val,ENST00000393494,;FOXP2,missense_variant,p.Gly473Val,ENST00000350908,NM_001172766.2,NM_014491.3;FOXP2,missense_variant,p.Gly452Val,ENST00000393498,;FOXP2,missense_variant,p.Gly474Val,ENST00000635638,;FOXP2,missense_variant,p.Gly381Val,ENST00000393489,;FOXP2,missense_variant,p.Gly453Val,ENST00000634623,;FOXP2,intron_variant,,ENST00000393491,;FOXP2,downstream_gene_variant,,ENST00000390668,NM_001172767.2;FOXP2,downstream_gene_variant,,ENST00000360232,NM_148899.3;MIR3666,downstream_gene_variant,,ENST00000607845,;FOXP2,upstream_gene_variant,,ENST00000634664,;FOXP2,3_prime_UTR_variant,,ENST00000441290,;FOXP2,3_prime_UTR_variant,,ENST00000635109,;FOXP2,intron_variant,,ENST00000412402,;	T	ENST00000408937	Transcript	missense_variant	1867/6443	1493/2223	498/740	G/V	gGa/gTa		1		1	FOXP2	HGNC	HGNC:13875	protein_coding	YES	CCDS43635.1	ENSP00000386200	O15409	X5D2H2	UPI000007412B	NM_148898.3	deleterious(0)		12/18		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF202																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	114658217	114658217	G	T	1	0	0	0	0	1	0	0	0	5892	1174	41	2		2	FOXP2	7	114658217	Missense_Mutation	SNP	G	C3N-01016_TP	22663558	114658217	44687756	166	21735											
CCDC136	0	.	GRCh38	chr7	128805825	128805825	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcagtgaggaggagcAgaggcggctgcagagggagc	10	3	20	8	1	1	3	1	1	0	2	1	6	1	6	1	6	3	3	1	6	0	0	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.1013A>C	p.Gln338Pro	p.Q338P	ENST00000297788	7/18	283	227	56	344	343	1	strelka-varscan	CCDC136,missense_variant,p.Gln338Pro,ENST00000297788,NM_022742.4;CCDC136,missense_variant,p.Gln215Pro,ENST00000494552,;CCDC136,missense_variant,p.Gln338Pro,ENST00000487361,;CCDC136,missense_variant,p.Gln388Pro,ENST00000464832,;CCDC136,missense_variant,p.Gln376Pro,ENST00000378685,NM_001201372.1;CCDC136,upstream_gene_variant,,ENST00000464672,;CCDC136,downstream_gene_variant,,ENST00000485998,;CCDC136,non_coding_transcript_exon_variant,,ENST00000480137,;CCDC136,upstream_gene_variant,,ENST00000485832,;CCDC136,upstream_gene_variant,,ENST00000528772,;CCDC136,upstream_gene_variant,,ENST00000460941,;	C	ENST00000297788	Transcript	missense_variant	1380/4169	1013/3465	338/1154	Q/P	cAg/cCg		1		1	CCDC136	HGNC	HGNC:22225	protein_coding	YES	CCDS47704.1	ENSP00000297788	Q96JN2		UPI0000E445DE	NM_022742.4	deleterious(0)		7/18		Low_complexity_(Seg):seg,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF26,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	67	128805825	128805825	A	C	1	0	0	0	0	1	0	0	0	2459	188	7	5		5	CCDC136	7	128805825	Missense_Mutation	SNP	A	C3N-01016_TP	14147608	128805825	30540148	167	21736											
FLNC	0	.	GRCh38	chr7	128855288	128855288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctctcggatgacgctCgccgtctcactgtcaccagc	5	9	8	19	4	3	1	2	1	2	0	7	2	4	2	4	1	1	1	4	1	0	0	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.7225C>A	p.Arg2409Ser	p.R2409S	ENST00000325888	43/48	327	257	70	355	355	0	strelka-varscan	FLNC,missense_variant,p.Arg2409Ser,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Arg2376Ser,ENST00000346177,NM_001127487.1;RP11-309L24.2,intron_variant,,ENST00000469965,;	A	ENST00000325888	Transcript	missense_variant	7486/9188	7225/8178	2409/2725	R/S	Cgc/Agc		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4	tolerated(0.6)		43/48		Gene3D:2.60.40.10,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	128855288	128855288	C	A	1	0	0	0	0	1	0	0	0	5791	884	31	1		1	FLNC	7	128855288	Missense_Mutation	SNP	C	C3N-01016_TP	49463	128855288	30490685	168	21737											
PLXNA4	0	.	GRCh38	chr7	132211144	132211144	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcagctgggggcagtcCtggggacagagggcatggct	7	5	19	10	1	0	1	0	0	0	1	1	2	1	2	1	6	2	6	1	6	0	0			C3N-01016_TP	C3N-01016_NB	C	C																c.2098-1G>T		p.X700_splice	ENST00000359827		115	93	22	95	95	0	strelka-varscan	PLXNA4,splice_acceptor_variant,,ENST00000359827,;PLXNA4,splice_acceptor_variant,,ENST00000321063,NM_020911.1;	A	ENST00000359827	Transcript	splice_acceptor_variant	-/13786	2098/5685	700/1894			COSM1448121,COSM1448122,COSM4449353,COSM4449354	1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B					9/31												1,1,1,1						HIGH	1	SNV	5		1,1,1,1	1										PASS		.	.												A	5	1	67	132211144	132211144	C	A	1	0	0	0	0	0	0	1	0	12228	695	24	2		2	PLXNA4	7	132211144	Splice_Site	SNP	C	C3N-01016_TP	3355856	132211144	27134829	169	21738											
SVOPL	0	.	GRCh38	chr7	138630093	138630093	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgtaaatatttagcatcCaataggtctgcaaatcttcc	12	13	6	10	1	2	0	0	0	2	0	5	0	5	0	3	1	2	3	3	1	7	6	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.819G>T	p.Leu273Phe	p.L273F	ENST00000419765	9/15	138	114	24	125	125	0	strelka-varscan	SVOPL,missense_variant,p.Leu153Phe,ENST00000421622,;SVOPL,missense_variant,p.Leu273Phe,ENST00000419765,NM_001139456.1;SVOPL,missense_variant,p.Leu121Phe,ENST00000436657,NM_174959.3;SVOPL,missense_variant,p.Leu121Phe,ENST00000288513,;SNORA40,upstream_gene_variant,,ENST00000516379,;SVOPL,upstream_gene_variant,,ENST00000463557,;SVOPL,missense_variant,p.Leu26Phe,ENST00000441685,;SVOPL,upstream_gene_variant,,ENST00000478865,;	A	ENST00000419765	Transcript	missense_variant	853/1523	819/1479	273/492	L/F	ttG/ttT		1		-1	SVOPL	HGNC	HGNC:27034	protein_coding	YES	CCDS47721.1	ENSP00000405482	Q8N434		UPI0001565476	NM_001139456.1	tolerated(0.71)		9/15		Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF168,Superfamily_domains:SSF103473																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	67	138630093	138630093	C	A	1	0	0	0	0	1	0	0	0	15809	593	21	2		2	SVOPL	7	138630093	Missense_Mutation	SNP	C	C3N-01016_TP	6418949	138630093	20715880	170	21739											
CLEC5A	0	.	GRCh38	chr7	141930193	141930193	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggccaatggtcgcacagtTgaaattctgattctgattgg	10	13	11	7	1	2	3	0	3	2	0	3	3	2	3	1	3	0	2	1	3	3	5	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.478A>T	p.Asn160Tyr	p.N160Y	ENST00000546910	7/7	158	133	25	198	198	0	strelka-varscan	CLEC5A,missense_variant,p.Asn160Tyr,ENST00000546910,NM_013252.2;CLEC5A,missense_variant,p.Asn137Tyr,ENST00000551012,NM_001301167.1;CLEC5A,missense_variant,p.Asn56Tyr,ENST00000439991,;MGAM,intron_variant,,ENST00000465654,;CLEC5A,downstream_gene_variant,,ENST00000438351,;MGAM,intron_variant,,ENST00000497554,;CLEC5A,downstream_gene_variant,,ENST00000470595,;CLEC5A,3_prime_UTR_variant,,ENST00000418498,;CLEC5A,downstream_gene_variant,,ENST00000481301,;	A	ENST00000546910	Transcript	missense_variant	675/3511	478/567	160/188	N/Y	Aac/Tac		1		-1	CLEC5A	HGNC	HGNC:2054	protein_coding	YES	CCDS5870.1	ENSP00000449999	Q9NY25	A4D1U7	UPI0000071CCD	NM_013252.2	deleterious(0)		7/7		Low_complexity_(Seg):seg,PROSITE_profiles:PS50041,hmmpanther:PTHR22800:SF177,hmmpanther:PTHR22800,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	141930193	141930193	T	A	1	0	0	0	0	1	0	0	0	3287	1812	63	4		4	CLEC5A	7	141930193	Missense_Mutation	SNP	T	C3N-01016_TP	3300100	141930193	17415780	171	21740											
OR2A25	0	.	GRCh38	chr7	144074607	144074607	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatctgccaccctctcCgatattctaccatcatgacc	8	11	5	17	1	4	1	1	1	3	0	5	2	4	1	6	1	2	0	6	1	2	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.388C>G	p.Arg130Gly	p.R130G	ENST00000408898	1/1	350	286	64	403	403	0	strelka-varscan	OR2A25,missense_variant,p.Arg130Gly,ENST00000408898,NM_001004488.1;OR2A41P,upstream_gene_variant,,ENST00000473586,;	G	ENST00000408898	Transcript	missense_variant	426/1014	388/933	130/310	R/G	Cga/Gga		1		1	OR2A25	HGNC	HGNC:19562	protein_coding	YES	CCDS43669.1	ENSP00000386167	A4D2G3	A0A126GVV5	UPI00002373C5	NM_001004488.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF146,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	67	144074607	144074607	C	G	1	0	0	0	0	1	0	0	0	11055	644	23	4		4	OR2A25	7	144074607	Missense_Mutation	SNP	C	C3N-01016_TP	2144414	144074607	15271366	172	21741											
GIMAP8	0	.	GRCh38	chr7	150474201	150474201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcttcttgtctgagagcaGaagctggagaaaaaagaaag	16	7	13	5	0	2	4	0	1	2	4	2	7	2	4	0	1	3	3	0	1	5	2			C3N-01016_TP	C3N-01016_NB	G	G																c.872G>A	p.Arg291Lys	p.R291K	ENST00000307271	4/5	261	206	55	319	319	0	strelka-varscan	GIMAP8,missense_variant,p.Arg291Lys,ENST00000307271,NM_175571.3;	A	ENST00000307271	Transcript	missense_variant	1446/4184	872/1998	291/665	R/K	aGa/aAa	COSM3260612	1		1	GIMAP8	HGNC	HGNC:21792	protein_coding	YES	CCDS34777.1	ENSP00000305107	Q8ND71	A0A090N8H2	UPI0000168646	NM_175571.3	deleterious(0.04)		4/5		PROSITE_profiles:PS51720,Gene3D:3.40.50.300,Pfam_domain:PF04548,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	67	150474201	150474201	G	A	1	0	0	0	0	1	0	0	0	6265	942	33	3		3	GIMAP8	7	150474201	Missense_Mutation	SNP	G	C3N-01016_TP	6399594	150474201	8871772	173	21742											
ASIC3	0	.	GRCh38	chr7	151049309	151049309	+	Missense_Mutation	SNP	C	C	A																															cgcccggcttcatgcccagtCccacctttgacatggcgcaa																								novel		C3N-01016_TP	C3N-01016_NB	C	C																c.424C>A	p.Pro142Thr	p.P142T	ENST00000297512	1/11	110	91	19	123	123	0	strelka-varscan	ASIC3,missense_variant,p.Pro142Thr,ENST00000357922,NM_020322.3;ASIC3,missense_variant,p.Pro142Thr,ENST00000349064,NM_004769.3;ASIC3,missense_variant,p.Pro142Thr,ENST00000297512,NM_020321.3;ABCB8,downstream_gene_variant,,ENST00000358849,NM_007188.4;ABCB8,downstream_gene_variant,,ENST00000542328,NM_001282293.1;ABCB8,downstream_gene_variant,,ENST00000297504,NM_001282291.1;ABCB8,downstream_gene_variant,,ENST00000498578,NM_001282292.1;CDK5,downstream_gene_variant,,ENST00000485972,NM_004935.3;CDK5,downstream_gene_variant,,ENST00000297518,NM_001164410.2;ASIC3,upstream_gene_variant,,ENST00000490540,;ASIC3,upstream_gene_variant,,ENST00000485929,;ASIC3,missense_variant,p.Pro142Thr,ENST00000377904,;ASIC3,missense_variant,p.Pro142Thr,ENST00000468325,;ABCB8,downstream_gene_variant,,ENST00000482899,;ABCB8,downstream_gene_variant,,ENST00000466514,;ABCB8,downstream_gene_variant,,ENST00000482309,;ASIC3,upstream_gene_variant,,ENST00000498105,;ASIC3,upstream_gene_variant,,ENST00000474135,;	A	ENST00000297512	Transcript	missense_variant	424/1718	424/1650	142/549	P/T	Ccc/Acc		1		1	ASIC3	HGNC	HGNC:101	protein_coding	YES	CCDS5915.1	ENSP00000297512	Q9UHC3	A0A090N8Q1	UPI00000300F6	NM_020321.3	tolerated(0.06)		1/11		hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF110,TIGRFAM_domain:TIGR00859,Pfam_domain:PF00858,Gene3D:2qtsA03																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	151049309	151049309	C	A	1	0	0	0	0	1	0	0	0	1187	855	30	2		2	ASIC3	7	151049309	Missense_Mutation	SNP	C	C3N-01016_TP	575108	151049309	8296664	174	21743	462	2									
ASIC3	0	.	GRCh38	chr7	151049311	151049311	+	Silent	SNP	C	C	A																															cccggcttcatgcccagtccCacctttgacatggcgcaact																								novel		C3N-01016_TP	C3N-01016_NB	C	C																c.426C>A	p.=	p.P142P	ENST00000297512	1/11	107	88	19	122	122	0	strelka-varscan	ASIC3,synonymous_variant,p.=,ENST00000357922,NM_020322.3;ASIC3,synonymous_variant,p.=,ENST00000349064,NM_004769.3;ASIC3,synonymous_variant,p.=,ENST00000297512,NM_020321.3;ABCB8,downstream_gene_variant,,ENST00000358849,NM_007188.4;ABCB8,downstream_gene_variant,,ENST00000542328,NM_001282293.1;ABCB8,downstream_gene_variant,,ENST00000297504,NM_001282291.1;ABCB8,downstream_gene_variant,,ENST00000498578,NM_001282292.1;CDK5,downstream_gene_variant,,ENST00000485972,NM_004935.3;CDK5,downstream_gene_variant,,ENST00000297518,NM_001164410.2;ASIC3,upstream_gene_variant,,ENST00000490540,;ASIC3,upstream_gene_variant,,ENST00000485929,;ASIC3,synonymous_variant,p.=,ENST00000377904,;ASIC3,synonymous_variant,p.=,ENST00000468325,;ABCB8,downstream_gene_variant,,ENST00000482899,;ABCB8,downstream_gene_variant,,ENST00000466514,;ABCB8,downstream_gene_variant,,ENST00000482309,;ASIC3,upstream_gene_variant,,ENST00000498105,;ASIC3,upstream_gene_variant,,ENST00000474135,;	A	ENST00000297512	Transcript	synonymous_variant	426/1718	426/1650	142/549	P	ccC/ccA		1		1	ASIC3	HGNC	HGNC:101	protein_coding	YES	CCDS5915.1	ENSP00000297512	Q9UHC3	A0A090N8Q1	UPI00000300F6	NM_020321.3			1/11		hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF110,TIGRFAM_domain:TIGR00859,Pfam_domain:PF00858,Gene3D:2qtsA03																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	67	151049311	151049311	C	A	1	0	0	0	0	0	0	0	1	1187	581	21	2		2	ASIC3	7	151049311	Silent	SNP	C	C3N-01016_TP	2	151049311	8296662	175	21744	462	2									
SGCZ	0	.	GRCh38	chr8	14102461	14102461	+	Missense_Mutation	SNP	G	G	T																															cactcacctggaccccacggGgagcttccatgatcaaggat																								novel		C3N-01016_TP	C3N-01016_NB	G	G																c.659C>A	p.Pro220His	p.P220H	ENST00000382080	7/8	65	48	17	83	82	1	strelka-varscan-mutect	SGCZ,missense_variant,p.Pro220His,ENST00000382080,NM_139167.2;SGCZ,missense_variant,p.Pro173His,ENST00000421524,;	T	ENST00000382080	Transcript	missense_variant	1375/2234	659/939	220/312	P/H	cCc/cAc		1		-1	SGCZ	HGNC	HGNC:14075	protein_coding	YES	CCDS5992.2	ENSP00000371512	Q96LD1		UPI00002339F6	NM_139167.2	deleterious(0)		7/8		Pfam_domain:PF04790,hmmpanther:PTHR12939,hmmpanther:PTHR12939:SF5																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	67	14102461	14102461	G	T	1	0	0	0	0	1	0	0	0	14464	1232	43	2		2	SGCZ	8	14102461	Missense_Mutation	SNP	G	C3N-01016_TP		14102461	131036175	176	21745	463	2									
SGCZ	0	.	GRCh38	chr8	14102462	14102462	+	Missense_Mutation	SNP	G	G	T																															actcacctggaccccacgggGagcttccatgatcaaggatc																								novel		C3N-01016_TP	C3N-01016_NB	G	G																c.658C>A	p.Pro220Thr	p.P220T	ENST00000382080	7/8	65	48	17	83	83	0	strelka-varscan-mutect	SGCZ,missense_variant,p.Pro220Thr,ENST00000382080,NM_139167.2;SGCZ,missense_variant,p.Pro173Thr,ENST00000421524,;	T	ENST00000382080	Transcript	missense_variant	1374/2234	658/939	220/312	P/T	Ccc/Acc		1		-1	SGCZ	HGNC	HGNC:14075	protein_coding	YES	CCDS5992.2	ENSP00000371512	Q96LD1		UPI00002339F6	NM_139167.2	deleterious(0)		7/8		Pfam_domain:PF04790,hmmpanther:PTHR12939,hmmpanther:PTHR12939:SF5																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	67	14102462	14102462	G	T	1	0	0	0	0	1	0	0	0	14464	1174	41	2		2	SGCZ	8	14102462	Missense_Mutation	SNP	G	C3N-01016_TP	1	14102462	131036174	177	21746	463	2									
ADAM7	0	.	GRCh38	chr8	24441133	24441133	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgggtgtatattcttgAtgattttactcattcctcag	7	18	7	9	1	3	2	2	2	1	0	5	2	5	2	2	1	1	1	2	1	3	8	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.25A>G	p.Met9Val	p.M9V	ENST00000175238	1/22	182	149	33	136	136	0	strelka-varscan-mutect	ADAM7,missense_variant,p.Met9Val,ENST00000175238,NM_003817.3;ADAM7,missense_variant,p.Met9Val,ENST00000380789,;ADAM7,missense_variant,p.Met9Val,ENST00000441335,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;	G	ENST00000175238	Transcript	missense_variant	108/3367	25/2265	9/754	M/V	Atg/Gtg		1		1	ADAM7	HGNC	HGNC:214	protein_coding	YES	CCDS6045.1	ENSP00000175238	Q9H2U9		UPI000013C5CC	NM_003817.3	tolerated(0.21)		1/22		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF21																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	67	24441133	24441133	A	G	1	0	0	0	0	1	0	0	0	295	333	12	5		5	ADAM7	8	24441133	Missense_Mutation	SNP	A	C3N-01016_TP	10338671	24441133	120697503	178	21747											
CDCA2	0	.	GRCh38	chr8	25506843	25506843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacgtgtggcatcagataGtcccaaacctgctctgaccc	11	8	9	13	1	2	3	1	1	1	2	3	3	3	3	3	1	3	2	3	1	3	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.2177G>T	p.Ser726Ile	p.S726I	ENST00000330560	15/15	208	164	44	187	187	0	strelka-varscan-mutect	CDCA2,missense_variant,p.Ser726Ile,ENST00000330560,NM_001317907.1,NM_152562.2;CDCA2,missense_variant,p.Ser711Ile,ENST00000380665,NM_001317906.1;CDCA2,non_coding_transcript_exon_variant,,ENST00000521098,;	T	ENST00000330560	Transcript	missense_variant	2654/3731	2177/3072	726/1023	S/I	aGt/aTt		1		1	CDCA2	HGNC	HGNC:14623	protein_coding	YES	CCDS6049.1	ENSP00000328228	Q69YH5		UPI000013DF9A	NM_001317907.1,NM_152562.2	tolerated(0.16)		15/15		hmmpanther:PTHR21603:SF16,hmmpanther:PTHR21603																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	25506843	25506843	G	T	1	0	0	0	0	1	0	0	0	2789	1029	36	2		2	CDCA2	8	25506843	Missense_Mutation	SNP	G	C3N-01016_TP	1065710	25506843	119631793	179	21748											
UNC5D	0	.	GRCh38	chr8	35790539	35790539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgatgaagccgacttcaaCtacagcaggcaaaatggact	14	8	9	10	1	1	2	1	2	0	0	1	4	1	3	1	2	4	2	1	2	5	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.2838C>A	p.Asn946Lys	p.N946K	ENST00000404895	17/17	271	198	73	244	244	0	strelka-varscan	UNC5D,missense_variant,p.Asn877Lys,ENST00000287272,;UNC5D,missense_variant,p.Asn941Lys,ENST00000453357,;UNC5D,missense_variant,p.Asn951Lys,ENST00000416672,;UNC5D,missense_variant,p.Asn946Lys,ENST00000404895,NM_080872.2;UNC5D,missense_variant,p.Asn879Lys,ENST00000420357,;UNC5D,missense_variant,p.Asn522Lys,ENST00000449677,;	A	ENST00000404895	Transcript	missense_variant	3166/3252	2838/2862	946/953	N/K	aaC/aaA		1		1	UNC5D	HGNC	HGNC:18634	protein_coding	YES	CCDS6093.2	ENSP00000385143	Q6UXZ4		UPI00001D6915	NM_080872.2	tolerated_low_confidence(0.2)		17/17		hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	35790539	35790539	C	A	1	0	0	0	0	1	0	0	0	17519	564	20	2		2	UNC5D	8	35790539	Missense_Mutation	SNP	C	C3N-01016_TP	10283696	35790539	109348097	180	21749											
WHSC1L1	0	.	GRCh38	chr8	38275670	38275670	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcttctccatgatcttGtgattcccatttacatttta	8	20	3	10	0	3	2	0	2	3	0	5	2	4	2	2	0	2	0	2	0	3	9	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.4285C>G	p.Gln1429Glu	p.Q1429E	ENST00000317025	24/24	153	108	45	165	164	1	strelka-varscan	WHSC1L1,missense_variant,p.Gln1429Glu,ENST00000317025,NM_023034.1;WHSC1L1,missense_variant,p.Gln1380Glu,ENST00000433384,;WHSC1L1,missense_variant,p.Gln1418Glu,ENST00000527502,;RP11-513D5.5,upstream_gene_variant,,ENST00000529325,;DDHD2,downstream_gene_variant,,ENST00000529872,;DDHD2,downstream_gene_variant,,ENST00000526071,;WHSC1L1,non_coding_transcript_exon_variant,,ENST00000528828,;	C	ENST00000317025	Transcript	missense_variant	4803/10776	4285/4314	1429/1437	Q/E	Caa/Gaa		1		-1	WHSC1L1	HGNC	HGNC:12767	protein_coding	YES	CCDS43729.1	ENSP00000313983	Q9BZ95		UPI000006F297	NM_023034.1	tolerated_low_confidence(0.1)		24/24																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	67	38275670	38275670	G	C	1	0	0	0	0	1	0	0	0	17921	1386	48	4		4	WHSC1L1	8	38275670	Missense_Mutation	SNP	G	C3N-01016_TP	2485131	38275670	106862966	181	21750											
SOX17	0	.	GRCh38	chr8	54459215	54459215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagcgggtggagggcggcttCctgcacggcctggctgagcc	5	6	18	12	3	0	1	0	1	0	0	1	2	1	2	3	6	3	3	3	6	1	1	rs765170070		C3N-01016_TP	C3N-01016_NB	C	C																c.465C>G	p.Phe155Leu	p.F155L	ENST00000297316	2/2	124	101	23	103	103	0	strelka-varscan	SOX17,missense_variant,p.Phe155Leu,ENST00000297316,NM_022454.3;	G	ENST00000297316	Transcript	missense_variant	669/2342	465/1245	155/414	F/L	ttC/ttG	rs765170070	1		1	SOX17	HGNC	HGNC:18122	protein_coding	YES	CCDS6159.1	ENSP00000297316	Q9H6I2		UPI00001362B7	NM_022454.3	tolerated(0.27)		2/2		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF216																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	67	54459215	54459215	C	G	1	0	0	0	0	1	0	0	0	15273	854	30	4		4	SOX17	8	54459215	Missense_Mutation	SNP	C	C3N-01016_TP	16183545	54459215	90679421	182	21751											
CSPP1	0	.	GRCh38	chr8	67103056	67103056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcacaggaacaaacgaGggaatatgcctcctatggaa	15	6	12	8	1	0	0	0	0	0	0	1	5	1	4	2	4	4	1	2	4	6	2			C3N-01016_TP	C3N-01016_NB	G	G																c.970G>T	p.Gly324Trp	p.G324W	ENST00000262210	7/29	150	126	24	111	111	0	strelka-varscan	CSPP1,missense_variant,p.Gly324Trp,ENST00000262210,NM_024790.6;CSPP1,missense_variant,p.Gly30Trp,ENST00000519668,NM_001291339.1;RNA5SP268,downstream_gene_variant,,ENST00000516828,;CSPP1,missense_variant,p.Gly323Trp,ENST00000519163,;	T	ENST00000262210	Transcript	missense_variant	1001/4367	970/3666	324/1221	G/W	Ggg/Tgg	COSM4641281	1		1	CSPP1	HGNC	HGNC:26193	protein_coding	YES	CCDS43744.1	ENSP00000262210	Q1MSJ5		UPI00005A95D7	NM_024790.6	deleterious(0.02)		7/29		hmmpanther:PTHR21616											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	67	67103056	67103056	G	T	1	0	0	0	0	1	0	0	0	3763	1000	35	2		2	CSPP1	8	67103056	Missense_Mutation	SNP	G	C3N-01016_TP	12643841	67103056	78035580	183	21752											
MSC	0	.	GRCh38	chr8	71843848	71843848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctcacgggcgttggccgCgttccgctgcgactgcttgc	3	9	14	15	7	1	0	1	0	0	0	2	1	2	0	2	2	3	5	2	2	0	3			C3N-01016_TP	C3N-01016_NB	C	C																c.331G>C	p.Ala111Pro	p.A111P	ENST00000325509	1/2	201	153	48	204	204	0	strelka-varscan	MSC,missense_variant,p.Ala111Pro,ENST00000325509,NM_005098.3;MSC-AS1,intron_variant,,ENST00000522519,;MSC-AS1,intron_variant,,ENST00000524152,;MSC-AS1,intron_variant,,ENST00000521467,;MSC-AS1,upstream_gene_variant,,ENST00000457356,;MSC-AS1,upstream_gene_variant,,ENST00000518916,;MSC-AS1,upstream_gene_variant,,ENST00000519751,;MSC,upstream_gene_variant,,ENST00000518440,;MSC,upstream_gene_variant,,ENST00000521739,;	G	ENST00000325509	Transcript	missense_variant	621/2023	331/621	111/206	A/P	Gcg/Ccg	COSM3432550,COSM5548415	1		-1	MSC	HGNC	HGNC:7321	protein_coding	YES	CCDS43746.1	ENSP00000321445	O60682		UPI000012FA29	NM_005098.3	deleterious(0)		1/2		Low_complexity_(Seg):seg,PROSITE_profiles:PS50888,hmmpanther:PTHR23349:SF62,hmmpanther:PTHR23349,Gene3D:4.10.280.10,Pfam_domain:PF00010,Superfamily_domains:SSF47459											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	67	71843848	71843848	C	G	1	0	0	0	0	1	0	0	0	9851	768	27	4		4	MSC	8	71843848	Missense_Mutation	SNP	C	C3N-01016_TP	4740792	71843848	73294788	184	21753											
TRPA1	0	.	GRCh38	chr8	72026046	72026046	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaaccaaagtggcagctTcttctctaagctggtatgaa	13	11	9	8	0	2	2	0	1	2	1	3	2	2	2	1	2	3	4	1	2	6	5	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.2965A>T	p.Lys989Ter	p.K989*	ENST00000262209	25/27	308	249	59	262	262	0	strelka-varscan	TRPA1,stop_gained,p.Lys989Ter,ENST00000262209,NM_007332.2;TRPA1,stop_gained,p.Lys841Ter,ENST00000523582,;MSC-AS1,intron_variant,,ENST00000457356,;MSC-AS1,intron_variant,,ENST00000522519,;MSC-AS1,intron_variant,,ENST00000518916,;MSC-AS1,intron_variant,,ENST00000519751,;MSC-AS1,intron_variant,,ENST00000524152,;MSC-AS1,intron_variant,,ENST00000519068,;MSC-AS1,upstream_gene_variant,,ENST00000512290,;TRPA1,upstream_gene_variant,,ENST00000520596,;	A	ENST00000262209	Transcript	stop_gained	3173/5223	2965/3360	989/1119	K/*	Aag/Tag		1		-1	TRPA1	HGNC	HGNC:497	protein_coding	YES	CCDS34908.1	ENSP00000262209	O75762		UPI000021081A	NM_007332.2			25/27		hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF6																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	67	72026046	72026046	T	A	1	0	0	0	0	0	1	0	0	17082	1792	62	4		4	TRPA1	8	72026046	Nonsense_Mutation	SNP	T	C3N-01016_TP	182198	72026046	73112590	185	21754											
KCNB2	0	.	GRCh38	chr8	72936028	72936028	+	Nonsense_Mutation	SNP	G	G	T																															tgcaggaaacggacgaatttGgacaactcaatgacaaccgc																								novel		C3N-01016_TP	C3N-01016_NB	G	G																c.673G>T	p.Gly225Ter	p.G225*	ENST00000523207	3/3	284	184	100	289	289	0	strelka-varscan	KCNB2,stop_gained,p.Gly225Ter,ENST00000523207,NM_004770.2;	T	ENST00000523207	Transcript	stop_gained	1261/3582	673/2736	225/911	G/*	Gga/Tga		1		1	KCNB2	HGNC	HGNC:6232	protein_coding	YES	CCDS6209.1	ENSP00000430846	Q92953		UPI000012DC85	NM_004770.2			3/3		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF134,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	67	72936028	72936028	G	T	1	0	0	0	0	0	1	0	0	7929	1349	47	2		2	KCNB2	8	72936028	Nonsense_Mutation	SNP	G	C3N-01016_TP	909982	72936028	72202608	186	21755	464	2									
KCNB2	0	.	GRCh38	chr8	72936029	72936029	+	Missense_Mutation	SNP	G	G	T																															gcaggaaacggacgaatttgGacaactcaatgacaaccgcc																								novel		C3N-01016_TP	C3N-01016_NB	G	G																c.674G>T	p.Gly225Val	p.G225V	ENST00000523207	3/3	285	185	100	297	297	0	strelka-varscan	KCNB2,missense_variant,p.Gly225Val,ENST00000523207,NM_004770.2;	T	ENST00000523207	Transcript	missense_variant	1262/3582	674/2736	225/911	G/V	gGa/gTa		1		1	KCNB2	HGNC	HGNC:6232	protein_coding	YES	CCDS6209.1	ENSP00000430846	Q92953		UPI000012DC85	NM_004770.2	deleterious(0)		3/3		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF134,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	72936029	72936029	G	T	1	0	0	0	0	1	0	0	0	7929	1174	41	2		2	KCNB2	8	72936029	Missense_Mutation	SNP	G	C3N-01016_TP	1	72936029	72202607	187	21756	464	2									
JPH1	0	.	GRCh38	chr8	74315610	74315610	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctccggcccactggccCtggtaggtaccttggagaga	7	8	13	13	1	0	1	0	0	0	1	1	3	1	2	5	5	2	2	5	5	2	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.390G>C	p.Gln130His	p.Q130H	ENST00000342232	2/6	136	104	32	88	88	0	strelka-varscan	JPH1,missense_variant,p.Gln130His,ENST00000342232,NM_020647.2;JPH1,missense_variant,p.Gly9Arg,ENST00000519947,;	G	ENST00000342232	Transcript	missense_variant	431/4378	390/1986	130/661	Q/H	caG/caC		1		-1	JPH1	HGNC	HGNC:14201	protein_coding	YES	CCDS6217.1	ENSP00000344488	Q9HDC5		UPI000012DAC0	NM_020647.2	deleterious(0.02)		2/6		hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF6,PIRSF_domain:PIRSF037387,Gene3D:1h3iA01,Pfam_domain:PF02493,SMART_domains:SM00698,Superfamily_domains:0038399																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	67	74315610	74315610	C	G	1	0	0	0	0	1	0	0	0	7872	680	24	4		4	JPH1	8	74315610	Missense_Mutation	SNP	C	C3N-01016_TP	1379581	74315610	70823026	188	21757											
SLC26A7	0	.	GRCh38	chr8	91352919	91352919	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgtgtccttgcaagcattAttgttgtgggactgaaggga	9	13	14	5	0	0	1	0	1	0	0	1	3	1	3	1	2	2	3	1	2	3	4			C3N-01016_TP	C3N-01016_NB	A	A																c.1237A>G	p.Ile413Val	p.I413V	ENST00000309536	11/19	265	233	32	89	89	0	strelka-varscan	SLC26A7,missense_variant,p.Ile413Val,ENST00000276609,NM_052832.3;SLC26A7,missense_variant,p.Ile413Val,ENST00000617233,;SLC26A7,missense_variant,p.Ile112Val,ENST00000617078,NM_001282357.1;SLC26A7,missense_variant,p.Ile413Val,ENST00000523719,NM_001282356.1;SLC26A7,missense_variant,p.Ile413Val,ENST00000309536,NM_134266.1;SLC26A7,non_coding_transcript_exon_variant,,ENST00000520249,;SLC26A7,upstream_gene_variant,,ENST00000517930,;SLC26A7,3_prime_UTR_variant,,ENST00000522181,;	G	ENST00000309536	Transcript	missense_variant	1457/2656	1237/1992	413/663	I/V	Att/Gtt	COSM5216773,COSM5216774	1		1	SLC26A7	HGNC	HGNC:14467	protein_coding	YES	CCDS6255.1	ENSP00000309504	Q8TE54		UPI0000046B1C	NM_134266.1	tolerated(0.95)		11/19		Transmembrane_helices:TMhelix,hmmpanther:PTHR11814:SF75,hmmpanther:PTHR11814,Pfam_domain:PF00916											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	67	91352919	91352919	A	G	1	0	0	0	0	1	0	0	0	14792	449	16	5		5	SLC26A7	8	91352919	Missense_Mutation	SNP	A	C3N-01016_TP	17037309	91352919	53785717	189	21758											
PKHD1L1	0	.	GRCh38	chr8	109489972	109489972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgcaagaataagtaatGtggaattttatcacagtggt	16	12	10	3	0	1	1	1	0	0	1	1	3	1	2	0	2	1	2	0	2	7	4			C3N-01016_TP	C3N-01016_NB	G	G																c.9901G>T	p.Val3301Leu	p.V3301L	ENST00000378402	60/78	291	269	22	149	149	0	strelka-varscan	PKHD1L1,missense_variant,p.Val3301Leu,ENST00000378402,NM_177531.4;PKHD1L1,missense_variant,p.Val229Leu,ENST00000526472,;	T	ENST00000378402	Transcript	missense_variant	10005/13076	9901/12732	3301/4243	V/L	Gtg/Ttg	COSM5040362	1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	deleterious(0)		60/78		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF330,SMART_domains:SM00710,Superfamily_domains:SSF51126											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	67	109489972	109489972	G	T	1	0	0	0	0	1	0	0	0	12068	1377	48	2		2	PKHD1L1	8	109489972	Missense_Mutation	SNP	G	C3N-01016_TP	18137053	109489972	35648664	190	21759											
KCNK9	0	.	GRCh38	chr8	139618380	139618380	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttggtgagatctcctCgatcttgtaagagatggagt	8	14	13	6	1	2	2	0	1	2	2	4	6	2	3	1	2	1	2	1	2	1	3			C3N-01016_TP	C3N-01016_NB	C	C																c.1003G>T	p.Glu335Ter	p.E335*	ENST00000520439	2/2	823	448	375	729	727	2	strelka-varscan	KCNK9,stop_gained,p.Glu335Ter,ENST00000520439,NM_001282534.1;KCNK9,stop_gained,p.Glu335Ter,ENST00000303015,;KCNK9,upstream_gene_variant,,ENST00000523477,;KCNK9,upstream_gene_variant,,ENST00000519923,;KCNK9,stop_gained,p.Glu335Ter,ENST00000522317,;	A	ENST00000520439	Transcript	stop_gained	1067/1441	1003/1125	335/374	E/*	Gag/Tag	COSM3645689,COSM3645690	1		-1	KCNK9	HGNC	HGNC:6283	protein_coding	YES	CCDS6377.1	ENSP00000430676	Q9NPC2	A0A024R9H3	UPI000000D8AC	NM_001282534.1			2/2		hmmpanther:PTHR11003:SF75,hmmpanther:PTHR11003,PIRSF_domain:PIRSF038061,Prints_domain:PR01585											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												A	4	1	67	139618380	139618380	C	A	1	0	0	0	0	0	1	0	0	7989	893	31	1		1	KCNK9	8	139618380	Nonsense_Mutation	SNP	C	C3N-01016_TP	30128408	139618380	5520256	191	21760											
LY6H	0	.	GRCh38	chr8	143158256	143158256	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaggaggagacatcagggCccagcccagaggagggcagg	12	1	19	9	0	1	2	1	0	0	2	1	6	1	5	2	7	1	1	2	7	1	0	rs759590027		C3N-01016_TP	C3N-01016_NB	C	C																c.480G>T	p.=	p.G160G	ENST00000414417	5/5	187	86	101	127	127	0	strelka-varscan	LY6H,synonymous_variant,p.=,ENST00000414417,NM_001130478.1;LY6H,synonymous_variant,p.=,ENST00000615409,;LY6H,synonymous_variant,p.=,ENST00000342752,NM_001135655.1;LY6H,synonymous_variant,p.=,ENST00000430474,NM_002347.4;LY6H,non_coding_transcript_exon_variant,,ENST00000479685,;	A	ENST00000414417	Transcript	synonymous_variant	714/1056	480/486	160/161	G	ggG/ggT	rs759590027,COSM5289859,COSM5289860	1		-1	LY6H	HGNC	HGNC:6728	protein_coding	YES	CCDS47926.1	ENSP00000399485	O94772		UPI00005A7901	NM_001130478.1			5/5		hmmpanther:PTHR32217,hmmpanther:PTHR32217:SF5,Low_complexity_(Seg):seg											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		.	.												A	2	1	67	143158256	143158256	C	A	1	0	0	0	0	0	0	0	1	9008	726	26	2		2	LY6H	8	143158256	Silent	SNP	C	C3N-01016_TP	3539876	143158256	1980380	192	21761											
CCDC166	0	.	GRCh38	chr8	143707753	143707753	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcgcgcaccccgtcctcGcgcccgtggtagagcgaggc	4	5	15	17	8	0	1	0	0	0	1	2	2	1	1	4	2	2	2	4	2	1	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.357C>T	p.=	p.R119R	ENST00000542437	1/2	216	181	35	125	125	0	strelka-varscan	CCDC166,synonymous_variant,p.=,ENST00000542437,NM_001162914.1;RP11-429J17.4,downstream_gene_variant,,ENST00000527579,;ZNF707,intron_variant,,ENST00000527561,;ZNF707,upstream_gene_variant,,ENST00000508587,;	A	ENST00000542437	Transcript	synonymous_variant	357/1320	357/1320	119/439	R	cgC/cgT		1		-1	CCDC166	HGNC	HGNC:41910	protein_coding	YES	CCDS55280.1	ENSP00000437468	P0CW27		UPI00016623E2	NM_001162914.1			1/2		Pfam_domain:PF14988,hmmpanther:PTHR14845,hmmpanther:PTHR14845:SF4																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	67	143707753	143707753	G	A	1	0	0	0	0	0	0	0	1	2482	1074	38	1		1	CCDC166	8	143707753	Silent	SNP	G	C3N-01016_TP	549497	143707753	1430883	193	21762											
PLEC	0	.	GRCh38	chr8	143920719	143920719	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatactcagcttctgcccCgcctcctccagccatacacc	8	9	5	19	1	2	1	1	0	1	1	4	1	4	1	7	0	5	1	7	0	3	4	rs782591966		C3N-01016_TP	C3N-01016_NB	C	C																c.9513G>T	p.=	p.A3171A	ENST00000322810	32/32	815	644	171	637	636	1	strelka-varscan	PLEC,synonymous_variant,p.=,ENST00000322810,NM_201380.3;PLEC,synonymous_variant,p.=,ENST00000345136,NM_201384.2;PLEC,synonymous_variant,p.=,ENST00000436759,NM_000445.4;PLEC,synonymous_variant,p.=,ENST00000354958,NM_201379.2;PLEC,synonymous_variant,p.=,ENST00000354589,NM_201382.3;PLEC,synonymous_variant,p.=,ENST00000357649,NM_201383.2;PLEC,synonymous_variant,p.=,ENST00000356346,NM_201378.3;PLEC,synonymous_variant,p.=,ENST00000398774,NM_201381.2;PLEC,synonymous_variant,p.=,ENST00000527096,;PLEC,downstream_gene_variant,,ENST00000527303,;	A	ENST00000322810	Transcript	synonymous_variant	9683/15249	9513/14055	3171/4684	A	gcG/gcT	rs782591966,COSM1684155,COSM1684156,COSM1684157,COSM1684158	1		-1	PLEC	HGNC	HGNC:9069	protein_coding	YES	CCDS43772.1	ENSP00000323856	Q15149		UPI0000233FCD	NM_201380.3			32/32		Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,SMART_domains:SM00250,Superfamily_domains:SSF75399											0,1,1,1,1						LOW	1	SNV	1		0,1,1,1,1	1										PASS		.	.												A	2	1	67	143920719	143920719	C	A	1	0	0	0	0	0	0	0	1	12145	639	23	1		1	PLEC	8	143920719	Silent	SNP	C	C3N-01016_TP	212966	143920719	1217917	194	21763											
SPATC1	0	.	GRCh38	chr8	144012542	144012542	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctactcaccaattatgaaggGcttcggcatcagatagagag	13	9	10	9	1	2	3	2	1	0	2	3	4	2	3	1	2	1	2	1	2	5	4	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.27G>A	p.=	p.G9G	ENST00000377470	1/5	337	299	38	193	193	0	strelka-varscan	SPATC1,synonymous_variant,p.=,ENST00000377470,NM_198572.2;SPATC1,synonymous_variant,p.=,ENST00000447830,NM_001134374.1;PARP10,5_prime_UTR_variant,,ENST00000530478,;	A	ENST00000377470	Transcript	synonymous_variant	129/2007	27/1776	9/591	G	ggG/ggA		1		1	SPATC1	HGNC	HGNC:30510	protein_coding	YES	CCDS6413.2	ENSP00000366690	Q76KD6		UPI00001D8243	NM_198572.2			1/5		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15058,hmmpanther:PTHR22192,hmmpanther:PTHR22192:SF16																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	67	144012542	144012542	G	A	1	0	0	0	0	0	0	0	1	15362	1190	42	3		3	SPATC1	8	144012542	Silent	SNP	G	C3N-01016_TP	91823	144012542	1126094	195	21764											
GLDC	0	.	GRCh38	chr9	6620246	6620246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagcagttataatagccCatgccaatatacgatctcca	14	10	6	11	1	1	1	0	1	1	0	2	2	1	1	3	0	4	2	3	0	6	5	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.408G>T	p.Met136Ile	p.M136I	ENST00000321612	3/25	466	409	57	405	405	0	strelka-varscan-mutect	GLDC,missense_variant,p.Met136Ile,ENST00000321612,NM_000170.2;	A	ENST00000321612	Transcript	missense_variant	559/3767	408/3063	136/1020	M/I	atG/atT		1		-1	GLDC	HGNC	HGNC:4313	protein_coding	YES	CCDS34987.1	ENSP00000370737	P23378		UPI0000684276	NM_000170.2	deleterious(0.02)		3/25		HAMAP:MF_00711,hmmpanther:PTHR11773,hmmpanther:PTHR11773:SF1,Gene3D:3.40.640.10,Pfam_domain:PF02347,TIGRFAM_domain:TIGR00461,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	6620246	6620246	C	A	1	0	0	0	0	1	0	0	0	6311	594	21	2		2	GLDC	9	6620246	Missense_Mutation	SNP	C	C3N-01016_TP		6620246	131774471	196	21765											
CCDC171	0	.	GRCh38	chr9	15744322	15744322	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaattgaaccatattgAgaagtcacatgaacagttgg	17	9	10	5	0	1	3	1	3	0	1	1	5	1	4	1	2	2	1	1	2	6	4	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.2099A>T	p.Glu700Val	p.E700V	ENST00000380701	17/26	92	79	13	94	94	0	strelka-varscan-mutect	CCDC171,missense_variant,p.Glu700Val,ENST00000380701,NM_173550.2;CCDC171,upstream_gene_variant,,ENST00000449575,;	T	ENST00000380701	Transcript	missense_variant	2427/6512	2099/3981	700/1326	E/V	gAg/gTg		1		1	CCDC171	HGNC	HGNC:29828	protein_coding	YES	CCDS6481.1	ENSP00000370077	Q6TFL3		UPI000021C44B	NM_173550.2	deleterious(0)		17/26		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF388																	MODERATE	1	SNV	1			1										PASS		rs1392743601	.												T	3	4	67	15744322	15744322	A	T	1	0	0	0	0	1	0	0	0	2488	304	11	4		4	CCDC171	9	15744322	Missense_Mutation	SNP	A	C3N-01016_TP	9124076	15744322	122650395	197	21766											
ADAMTSL1	0	.	GRCh38	chr9	18777714	18777714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctctcgaaggccacaccGcaagcccaccatcctgcgca	10	4	9	18	3	1	0	0	0	1	0	3	1	2	0	5	2	2	3	5	2	2	0	rs767012703		C3N-01016_TP	C3N-01016_NB	G	G																c.3485G>A	p.Arg1162His	p.R1162H	ENST00000380548	19/29	103	81	22	121	121	0	strelka-varscan-mutect	ADAMTSL1,missense_variant,p.Arg1162His,ENST00000380548,NM_001040272.5;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;	A	ENST00000380548	Transcript	missense_variant	3824/8030	3485/5289	1162/1762	R/H	cGc/cAc	rs767012703,COSM1283286	1		1	ADAMTSL1	HGNC	HGNC:14632	protein_coding	YES	CCDS47954.1	ENSP00000369921	Q8N6G6		UPI000004FD83	NM_001040272.5	deleterious(0)		19/29													0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs767012703	.												A	3	1	67	18777714	18777714	G	A	1	0	0	0	0	1	0	0	0	318	1087	38	1		1	ADAMTSL1	9	18777714	Missense_Mutation	SNP	G	C3N-01016_TP	3033392	18777714	119617003	198	21767											
FOCAD	0	.	GRCh38	chr9	20881878	20881878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcctcttttagctttggaGgaattttttacatcacttgt	8	20	6	7	0	2	0	1	0	1	0	3	2	3	2	1	2	2	1	1	2	4	8	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.2325G>T	p.Glu775Asp	p.E775D	ENST00000380249	22/46	170	150	20	156	156	0	strelka-varscan-mutect	FOCAD,missense_variant,p.Glu775Asp,ENST00000380249,NM_017794.4;FOCAD,missense_variant,p.Glu775Asp,ENST00000338382,;FOCAD,missense_variant,p.Glu211Asp,ENST00000605086,;FOCAD,non_coding_transcript_exon_variant,,ENST00000605852,;FOCAD,upstream_gene_variant,,ENST00000603552,;	T	ENST00000380249	Transcript	missense_variant	2689/6096	2325/5406	775/1801	E/D	gaG/gaT		1		1	FOCAD	HGNC	HGNC:23377	protein_coding	YES	CCDS34993.1	ENSP00000369599	Q5VW36		UPI0000EE4244	NM_017794.4	deleterious(0.04)		22/46		hmmpanther:PTHR16212,hmmpanther:PTHR16212:SF4,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	20881878	20881878	G	T	1	0	0	0	0	1	0	0	0	5839	991	35	2		2	FOCAD	9	20881878	Missense_Mutation	SNP	G	C3N-01016_TP	2104164	20881878	117512839	199	21768											
TAF1L	0	.	GRCh38	chr9	32630304	32630304	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcaaatcctcatacaggAcactggcttcaggttgttgt	11	12	9	9	0	2	0	2	0	0	0	3	1	3	1	1	3	2	4	1	3	3	5	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.5276T>A	p.Val1759Asp	p.V1759D	ENST00000242310	1/1	436	289	147	452	452	0	strelka-varscan-mutect	TAF1L,missense_variant,p.Val1759Asp,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;	T	ENST00000242310	Transcript	missense_variant	5366/6216	5276/5481	1759/1826	V/D	gTc/gAc		1		-1	TAF1L	HGNC	HGNC:18056	protein_coding	YES	CCDS35003.1	ENSP00000418379	Q8IZX4		UPI000007408A	NM_153809.2	deleterious_low_confidence(0)		1/1		PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0																	MODERATE		SNV				1										PASS		.	.												T	3	4	67	32630304	32630304	A	T	1	0	0	0	0	1	0	0	0	15919	275	10	4		4	TAF1L	9	32630304	Missense_Mutation	SNP	A	C3N-01016_TP	11748426	32630304	105764413	200	21769											
DNAI1	0	.	GRCh38	chr9	34506681	34506681	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctctacagcctgaagaaccCcagcttccctgagtacatgt	10	9	8	14	0	1	3	0	2	1	1	2	3	2	3	4	0	5	3	4	0	4	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1130C>G	p.Pro377Arg	p.P377R	ENST00000614641	13/20	394	336	58	343	343	0	strelka-varscan-mutect	DNAI1,missense_variant,p.Pro377Arg,ENST00000614641,NM_001281428.1;DNAI1,missense_variant,p.Pro373Arg,ENST00000242317,NM_012144.3;DNAI1,missense_variant,p.Pro19Arg,ENST00000470169,;	G	ENST00000614641	Transcript	missense_variant	1384/2598	1130/2112	377/703	P/R	cCc/cGc		1		1	DNAI1	HGNC	HGNC:2954	protein_coding	YES	CCDS75829.1	ENSP00000480538		A0A087WWV9	UPI000382F365	NM_001281428.1	deleterious(0)		13/20		Gene3D:2.130.10.10,hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF11,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	67	34506681	34506681	C	G	1	0	0	0	0	1	0	0	0	4424	623	22	4		4	DNAI1	9	34506681	Missense_Mutation	SNP	C	C3N-01016_TP	1876377	34506681	103888036	201	21770											
UNC13B	0	.	GRCh38	chr9	35399163	35399163	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcctggacttgcagccTcaccctctttgccactgtgt	4	14	9	14	0	2	0	1	0	1	0	2	1	2	1	4	1	4	2	4	1	0	3	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.3830T>A	p.Leu1277His	p.L1277H	ENST00000378495	33/39	174	157	17	158	158	0	strelka-varscan-mutect	UNC13B,missense_variant,p.Leu4026His,ENST00000635942,;UNC13B,missense_variant,p.Leu1657His,ENST00000636694,;UNC13B,missense_variant,p.Leu864His,ENST00000617908,;UNC13B,missense_variant,p.Leu1277His,ENST00000619578,;UNC13B,missense_variant,p.Leu1277His,ENST00000378495,NM_006377.3;UNC13B,missense_variant,p.Leu1289His,ENST00000396787,;UNC13B,missense_variant,p.Leu864His,ENST00000378496,;UNC13B,missense_variant,p.Leu188His,ENST00000481299,;UNC13B,splice_region_variant,,ENST00000637271,;UNC13B,splice_region_variant,,ENST00000634487,;	A	ENST00000378495	Transcript	missense_variant,splice_region_variant	4052/6303	3830/4776	1277/1591	L/H	cTc/cAc		1		1	UNC13B	HGNC	HGNC:12566	protein_coding	YES	CCDS6579.1	ENSP00000367756	O14795		UPI0000211336	NM_006377.3	deleterious(0)		33/39		Pfam_domain:PF10540,PROSITE_profiles:PS51259,hmmpanther:PTHR10480																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	35399163	35399163	T	A	1	0	0	0	0	1	0	0	0	17509	1565	54	4		4	UNC13B	9	35399163	Missense_Mutation	SNP	T	C3N-01016_TP	892482	35399163	102995554	202	21771											
SPATA31A6	0	.	GRCh38	chr9	42186352	42186352	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatcctctggcctgctCtccgcctcctccaaaaggct	5	10	7	19	1	2	1	0	1	2	0	6	1	5	1	7	2	1	2	7	2	2	0	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.650C>A	p.Ser217Tyr	p.S217Y	ENST00000332857	4/4	92	67	25	40	40	0	strelka-varscan	SPATA31A6,missense_variant,p.Ser217Tyr,ENST00000332857,NM_001145196.1;SPATA31A6,non_coding_transcript_exon_variant,,ENST00000496386,;	A	ENST00000332857	Transcript	missense_variant	679/4209	650/4032	217/1343	S/Y	tCt/tAt		1		1	SPATA31A6	HGNC	HGNC:32006	protein_coding	YES	CCDS75837.1	ENSP00000329825	Q5VVP1		UPI0000197F6E	NM_001145196.1	tolerated(1)		4/4		hmmpanther:PTHR21859:SF18,hmmpanther:PTHR21859																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	67	42186352	42186352	C	A	1	0	0	0	0	1	0	0	0	15345	913	32	2		2	SPATA31A6	9	42186352	Missense_Mutation	SNP	C	C3N-01016_TP	6787189	42186352	96208365	203	21772											
SPATA31A7	0	.	GRCh38	chr9	61193418	61193418	+	Frame_Shift_Del	DEL	T	T	-																															tatactttacagtctcctccTttcttgttcaatgaaatgtc																								novel		C3N-01016_TP	C3N-01016_NB	T	T																c.1334delT	p.Phe445SerfsTer73	p.F445Sfs*73	ENST00000619167	4/4	54	39	15	25	25	0	sindel-varindel-pindel	SPATA31A7,frameshift_variant,p.Phe445SerfsTer73,ENST00000619167,NM_015667.2;RP11-101E5.6,downstream_gene_variant,,ENST00000611332,;SPATA31A7,intron_variant,,ENST00000621711,;SPATA31A7,downstream_gene_variant,,ENST00000618860,;SPATA31A7,downstream_gene_variant,,ENST00000619140,;SPATA31A7,downstream_gene_variant,,ENST00000622899,;SPATA31A7,downstream_gene_variant,,ENST00000622751,;SPATA31A7,downstream_gene_variant,,ENST00000376458,;SPATA31A7,downstream_gene_variant,,ENST00000614013,;SPATA31A7,downstream_gene_variant,,ENST00000611017,;	-	ENST00000619167	Transcript	frameshift_variant	1394/4256	1332/4044	444/1347	P/X	ccT/cc		1		1	SPATA31A7	HGNC	HGNC:32007	protein_coding	YES	CCDS75838.1	ENSP00000484807	Q8IWB4		UPI0000457748	NM_015667.2			4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF22,Pfam_domain:PF14650																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	67	61193418	61193418	T	-	1	0	1	0	1	0	0	0	0	15346	1596	56	0		0	SPATA31A7	9	61193418	Frame_Shift_Del	DEL	T	C3N-01016_TP	19007066	61193418	77201299	204	21773											
TRMO	0	.	GRCh38	chr9	97910032	97910032	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctaaagtggccacaggagCctctgtcacccaggcaggaa	11	7	11	12	0	3	0	1	0	2	0	3	2	3	2	3	4	1	1	3	4	3	2	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.994G>C	p.Ala332Pro	p.A332P	ENST00000375119	4/5	63	37	26	30	30	0	strelka-varscan-mutect	TRMO,missense_variant,p.Ala186Pro,ENST00000375118,;TRMO,missense_variant,p.Ala332Pro,ENST00000375119,NM_016481.4;TRMO,3_prime_UTR_variant,,ENST00000611338,;TRMO,downstream_gene_variant,,ENST00000375117,;TRMO,downstream_gene_variant,,ENST00000455506,;TRMO,non_coding_transcript_exon_variant,,ENST00000478126,;TRMO,downstream_gene_variant,,ENST00000471580,;	G	ENST00000375119	Transcript	missense_variant	1071/1647	994/1326	332/441	A/P	Gct/Cct		1		-1	TRMO	HGNC	HGNC:30967	protein_coding	YES	CCDS6730.1	ENSP00000364260	Q9BU70		UPI000013D057	NM_016481.4	tolerated(0.42)		4/5		hmmpanther:PTHR12818:SF0,hmmpanther:PTHR12818,Superfamily_domains:0051066																	MODERATE	1	SNV	1			1										PASS		rs1156379710	.												G	3	3	67	97910032	97910032	C	G	1	0	0	0	0	1	0	0	0	17059	739	26	4		4	TRMO	9	97910032	Missense_Mutation	SNP	C	C3N-01016_TP	36716614	97910032	40484685	205	21774											
GABBR2	0	.	GRCh38	chr9	98290633	98290633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggcacatgtctgtggCgggggctggcggtggggctg	3	8	23	7	2	1	0	0	0	1	0	1	0	1	0	0	9	0	3	0	9	0	0	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.2777G>C	p.Arg926Pro	p.R926P	ENST00000259455	19/19	30	25	5	24	24	0	strelka-varscan-mutect	GABBR2,missense_variant,p.Arg926Pro,ENST00000259455,NM_005458.7;GABBR2,downstream_gene_variant,,ENST00000637410,;	G	ENST00000259455	Transcript	missense_variant	3237/5788	2777/2826	926/941	R/P	cGc/cCc		1		-1	GABBR2	HGNC	HGNC:4507	protein_coding	YES	CCDS6736.1	ENSP00000259455	O75899	H9NIL8	UPI0000035832	NM_005458.7	deleterious_low_confidence(0)		19/19		Prints_domain:PR01178,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF40																	MODERATE	1	SNV	1			1										PASS		rs771637982	.												G	3	3	67	98290633	98290633	C	G	1	0	0	0	0	1	0	0	0	6027	768	27	4		4	GABBR2	9	98290633	Missense_Mutation	SNP	C	C3N-01016_TP	380601	98290633	40104084	206	21775											
OR1L8	0	.	GRCh38	chr9	122567729	122567729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcttccataaaagagcGtcaccacggtgaggtaaaaa	16	7	10	8	2	1	3	1	1	0	2	2	3	2	3	2	2	2	2	2	2	5	3	rs372497222		C3N-01016_TP	C3N-01016_NB	G	G																c.749C>T	p.Thr250Met	p.T250M	ENST00000304865	1/1	101	79	22	112	112	0	strelka-varscan-mutect	OR1L8,missense_variant,p.Thr250Met,ENST00000304865,NM_001004454.1;	A	ENST00000304865	Transcript	missense_variant	749/930	749/930	250/309	T/M	aCg/aTg	rs372497222	1		-1	OR1L8	HGNC	HGNC:15110	protein_coding	YES	CCDS35124.1	ENSP00000306607	Q8NGR8	A0A126GVC5	UPI0000041CB7	NM_001004454.1	tolerated(0.09)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF277,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs372497222	.												A	3	1	67	122567729	122567729	G	A	1	0	0	0	0	1	0	0	0	11045	1145	40	1		1	OR1L8	9	122567729	Missense_Mutation	SNP	G	C3N-01016_TP	24277096	122567729	15826988	207	21776											
ADAMTSL2	0	.	GRCh38	chr9	133538382	133538382	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccccgggaacaggacCtgcacgggcacgtccaagcg	8	2	15	16	5	0	0	0	0	0	0	1	2	1	2	5	4	3	2	5	4	2	0	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.267C>A	p.=	p.T89T	ENST00000354484	4/19	337	196	141	362	362	0	strelka-varscan-mutect	ADAMTSL2,synonymous_variant,p.=,ENST00000393061,;ADAMTSL2,synonymous_variant,p.=,ENST00000354484,NM_001145320.1;ADAMTSL2,synonymous_variant,p.=,ENST00000393060,NM_014694.3;	A	ENST00000354484	Transcript	synonymous_variant	824/4068	267/2856	89/951	T	acC/acA		1		1	ADAMTSL2	HGNC	HGNC:14631	protein_coding	YES	CCDS6976.1	ENSP00000346478	Q86TH1		UPI000018CEA2	NM_001145320.1			4/19		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF147,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895																	LOW	1	SNV	1			1										PASS		rs1307914195	.												A	2	1	67	133538382	133538382	C	A	1	0	0	0	0	0	0	0	1	319	668	24	2		2	ADAMTSL2	9	133538382	Silent	SNP	C	C3N-01016_TP	10970653	133538382	4856335	208	21777											
KCNT1	0	.	GRCh38	chr9	135779385	135779385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcctcagcatcaccaCggagctcacccacccttcca	9	5	5	22	1	3	0	3	0	0	0	4	1	4	1	7	1	3	2	7	1	0	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.2756C>A	p.Thr919Lys	p.T919K	ENST00000371757	24/31	156	84	72	207	207	0	strelka-varscan-mutect	KCNT1,missense_variant,p.Thr874Lys,ENST00000628528,NM_001272003.1;KCNT1,missense_variant,p.Thr886Lys,ENST00000263604,;KCNT1,missense_variant,p.Thr919Lys,ENST00000371757,NM_020822.2;KCNT1,missense_variant,p.Thr900Lys,ENST00000631073,;KCNT1,missense_variant,p.Thr919Lys,ENST00000487664,;KCNT1,missense_variant,p.Thr880Lys,ENST00000486577,;KCNT1,missense_variant,p.Thr898Lys,ENST00000490355,;KCNT1,missense_variant,p.Thr900Lys,ENST00000488444,;KCNT1,missense_variant,p.Thr900Lys,ENST00000491806,;KCNT1,missense_variant,p.Thr864Lys,ENST00000630792,;KCNT1,3_prime_UTR_variant,,ENST00000460750,;KCNT1,3_prime_UTR_variant,,ENST00000631193,;KCNT1,non_coding_transcript_exon_variant,,ENST00000490363,;	A	ENST00000371757	Transcript	missense_variant	2823/4717	2756/3708	919/1235	T/K	aCg/aAg		1		1	KCNT1	HGNC	HGNC:18865	protein_coding	YES	CCDS35175.2	ENSP00000360822	Q5JUK3		UPI000192C42B	NM_020822.2	deleterious(0)		24/31		Gene3D:3.40.50.720,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14																	MODERATE	1	SNV	1			1										PASS		rs1213818774	.												A	3	1	67	135779385	135779385	C	A	1	0	0	0	0	1	0	0	0	8007	536	19	1		1	KCNT1	9	135779385	Missense_Mutation	SNP	C	C3N-01016_TP	2241003	135779385	2615332	209	21778											
NSMF	0	.	GRCh38	chr9	137458499	137458499	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcccctacctgcgccgttgCggttctcagggtgactctgg	3	11	13	14	3	2	1	1	1	2	0	3	1	2	1	4	3	4	2	4	3	1	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.122G>T	p.Arg41Leu	p.R41L	ENST00000371475	2/16	295	166	129	389	388	1	strelka-varscan-mutect	NSMF,missense_variant,p.Arg41Leu,ENST00000371475,NM_001130969.1;NSMF,missense_variant,p.Arg41Leu,ENST00000265663,NM_015537.4;NSMF,missense_variant,p.Arg41Leu,ENST00000437259,NM_001130970.1;NSMF,missense_variant,p.Arg41Leu,ENST00000371474,NM_001130971.1;NSMF,missense_variant,p.Arg41Leu,ENST00000371473,NM_001178064.1;NSMF,missense_variant,p.Arg41Leu,ENST00000371472,;PNPLA7,downstream_gene_variant,,ENST00000406427,NM_001098537.2;PNPLA7,downstream_gene_variant,,ENST00000277531,NM_152286.4;NSMF,upstream_gene_variant,,ENST00000339554,;PNPLA7,downstream_gene_variant,,ENST00000492278,;PNPLA7,downstream_gene_variant,,ENST00000469998,;PNPLA7,downstream_gene_variant,,ENST00000487228,;NSMF,upstream_gene_variant,,ENST00000371482,;NSMF,upstream_gene_variant,,ENST00000484316,;NSMF,upstream_gene_variant,,ENST00000371468,;	A	ENST00000371475	Transcript	missense_variant	354/3646	122/1593	41/530	R/L	cGc/cTc		1		-1	NSMF	HGNC	HGNC:29843	protein_coding	YES	CCDS48069.1	ENSP00000360530	Q6X4W1		UPI000035198D	NM_001130969.1	deleterious_low_confidence(0)		2/16		hmmpanther:PTHR32061																	MODERATE	1	SNV	1			1										PASS		rs989048174	.												A	3	1	67	137458499	137458499	C	A	1	0	0	0	0	1	0	0	0	10739	768	27	1		1	NSMF	9	137458499	Missense_Mutation	SNP	C	C3N-01016_TP	1679114	137458499	936218	210	21779											
CACNA1B	0	.	GRCh38	chr9	137917400	137917400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacggtgttccagtgcatcaCcatggagggctggactgaca	9	8	14	10	1	1	1	1	1	0	0	2	4	2	3	2	4	1	3	2	4	0	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.935C>T	p.Thr312Ile	p.T312I	ENST00000371372	6/47	93	74	19	123	123	0	strelka-varscan-mutect	CACNA1B,missense_variant,p.Thr312Ile,ENST00000371372,NM_000718.3;CACNA1B,missense_variant,p.Thr312Ile,ENST00000371363,;CACNA1B,missense_variant,p.Thr312Ile,ENST00000371355,;CACNA1B,missense_variant,p.Thr312Ile,ENST00000371357,;CACNA1B,missense_variant,p.Thr312Ile,ENST00000277549,;CACNA1B,missense_variant,p.Thr312Ile,ENST00000277551,NM_001243812.1;	T	ENST00000371372	Transcript	missense_variant	1080/9790	935/7020	312/2339	T/I	aCc/aTc		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3	deleterious(0)		6/47		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	67	137917400	137917400	C	T	1	0	0	0	0	1	0	0	0	2227	507	18	3		3	CACNA1B	9	137917400	Missense_Mutation	SNP	C	C3N-01016_TP	458901	137917400	477317	211	21780											
TUBAL3	0	.	GRCh38	chr10	5394224	5394224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcatagacggcctcgttgtCcaccatgaaggtacagtccg	10	9	10	12	3	1	2	1	1	0	1	4	2	3	2	4	2	1	2	4	2	3	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.634G>T	p.Asp212Tyr	p.D212Y	ENST00000380419	4/4	189	167	22	181	181	0	strelka-varscan-mutect	TUBAL3,missense_variant,p.Asp212Tyr,ENST00000380419,NM_024803.2;TUBAL3,missense_variant,p.Asp172Tyr,ENST00000479328,NM_001171864.1;	A	ENST00000380419	Transcript	missense_variant	672/1798	634/1341	212/446	D/Y	Gac/Tac		1		-1	TUBAL3	HGNC	HGNC:23534	protein_coding	YES	CCDS7066.2	ENSP00000369784	A6NHL2		UPI00000497AE	NM_024803.2	deleterious_low_confidence(0)		4/4		hmmpanther:PTHR11588:SF130,hmmpanther:PTHR11588,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	5394224	5394224	C	A	1	0	0	0	0	1	0	0	0	17262	855	30	2		2	TUBAL3	10	5394224	Missense_Mutation	SNP	C	C3N-01016_TP		5394224	128403198	212	21781											
CREM	0	.	GRCh38	chr10	35167757	35167757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagcataatctatgtttcaGgcgtcctatagaagaggatt	12	13	9	7	1	3	2	2	0	1	2	4	3	4	3	1	2	1	2	1	2	5	6	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.32G>T	p.Arg11Met	p.R11M	ENST00000361599	1/6	157	136	21	156	155	1	strelka-varscan-mutect	CREM,missense_variant,p.Arg11Met,ENST00000361599,NM_182771.1,NM_182772.1;CREM,missense_variant,p.Arg11Met,ENST00000395887,NM_001267564.1;CREM,missense_variant,p.Arg11Met,ENST00000484283,;CREM,intron_variant,,ENST00000439705,;CREM,intron_variant,,ENST00000345491,NM_181571.2;CREM,intron_variant,,ENST00000374721,;CREM,intron_variant,,ENST00000374728,NM_183060.2;CREM,intron_variant,,ENST00000348787,;CREM,intron_variant,,ENST00000354759,NM_183013.2;CREM,intron_variant,,ENST00000429130,;CREM,intron_variant,,ENST00000460270,;CREM,intron_variant,,ENST00000374726,NM_001881.3;CREM,intron_variant,,ENST00000474362,;CREM,intron_variant,,ENST00000479070,;CREM,intron_variant,,ENST00000337656,NM_183011.1;CREM,intron_variant,,ENST00000489321,;CREM,intron_variant,,ENST00000374734,NM_183012.1;CREM,intron_variant,,ENST00000487132,;CREM,intron_variant,,ENST00000427847,;CREM,non_coding_transcript_exon_variant,,ENST00000497686,;CREM,intron_variant,,ENST00000489388,;CREM,intron_variant,,ENST00000461968,;CREM,intron_variant,,ENST00000496019,;CREM,intron_variant,,ENST00000466251,;CREM,intron_variant,,ENST00000490460,;CREM,intron_variant,,ENST00000495960,;CREM,intron_variant,,ENST00000464475,;CREM,intron_variant,,ENST00000482633,;	T	ENST00000361599	Transcript	missense_variant	242/2170	32/813	11/270	R/M	aGg/aTg		1		1	CREM	HGNC	HGNC:2352	protein_coding		CCDS7185.1	ENSP00000354593	Q03060		UPI00001BDF5B	NM_182771.1,NM_182772.1	deleterious_low_confidence(0)		1/6																			MODERATE		SNV	5			1										PASS		.	.												T	3	4	67	35167757	35167757	G	T	1	0	0	0	0	1	0	0	0	3669	1000	35	2		2	CREM	10	35167757	Missense_Mutation	SNP	G	C3N-01016_TP	29773533	35167757	98629665	213	21782											
ZNF33B	0	.	GRCh38	chr10	42594168	42594168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtatctgatggaacaagaggGatgaactatcacagaaagtt	16	9	11	5	0	2	4	1	2	1	2	2	6	2	6	0	2	2	2	0	2	6	3	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.782C>T	p.Ser261Phe	p.S261F	ENST00000359467	5/5	198	175	23	113	113	0	strelka-varscan-mutect	ZNF33B,missense_variant,p.Ser261Phe,ENST00000359467,NM_001305036.1,NM_001305033.1,NM_006955.1;ZNF33B,missense_variant,p.Ser261Phe,ENST00000613419,;ZNF33B,intron_variant,,ENST00000465206,;ZNF33B,intron_variant,,ENST00000462075,;ZNF33B,intron_variant,,ENST00000486187,;	A	ENST00000359467	Transcript	missense_variant	897/5958	782/2337	261/778	S/F	tCc/tTc		1		-1	ZNF33B	HGNC	HGNC:13097	protein_coding	YES	CCDS7198.1	ENSP00000352444	Q06732		UPI000007257B	NM_001305036.1,NM_001305033.1,NM_006955.1	tolerated(0.2)		5/5		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF204																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	42594168	42594168	G	A	1	0	0	0	0	1	0	0	0	18427	1174	41	3		3	ZNF33B	10	42594168	Missense_Mutation	SNP	G	C3N-01016_TP	7426411	42594168	91203254	214	21783											
PCDH15	0	.	GRCh38	chr10	54023095	54023095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttctctgttaagcttcaCtgctgtgtaaatgctcccat	8	15	7	11	0	2	0	1	0	1	0	4	1	3	0	1	0	3	5	1	0	3	4			C3N-01016_TP	C3N-01016_NB	C	C																c.2338G>T	p.Val780Leu	p.V780L	ENST00000373957	20/35	496	433	63	383	383	0	strelka-varscan-mutect	PCDH15,missense_variant,p.Val780Leu,ENST00000614895,;PCDH15,missense_variant,p.Val775Leu,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Val775Leu,ENST00000414778,;PCDH15,missense_variant,p.Val780Leu,ENST00000617051,;PCDH15,missense_variant,p.Val780Leu,ENST00000373957,NM_001142763.1;PCDH15,missense_variant,p.Val775Leu,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,missense_variant,p.Val775Leu,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Val753Leu,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Val738Leu,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Val775Leu,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Val704Leu,ENST00000622048,;PCDH15,missense_variant,p.Val704Leu,ENST00000437009,NM_001142765.1;PCDH15,missense_variant,p.Val775Leu,ENST00000617271,NM_001142770.1;PCDH15,missense_variant,p.Val787Leu,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Val782Leu,ENST00000395445,;PCDH15,missense_variant,p.Val775Leu,ENST00000616114,;PCDH15,missense_variant,p.Val775Leu,ENST00000395438,;PCDH15,missense_variant,p.Val787Leu,ENST00000612394,;PCDH15,missense_variant,p.Val780Leu,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Val386Leu,ENST00000409834,;PCDH15,missense_variant,p.Val775Leu,ENST00000373955,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	A	ENST00000373957	Transcript	missense_variant	2733/7032	2338/5889	780/1962	V/L	Gtg/Ttg	COSM2147349,COSM2147350,COSM2147351,COSM2147352	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1	tolerated(0.06)		20/35		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		.	.												A	3	1	67	54023095	54023095	C	A	1	0	0	0	0	1	0	0	0	11598	565	20	2		2	PCDH15	10	54023095	Missense_Mutation	SNP	C	C3N-01016_TP	11428927	54023095	79774327	215	21784											
DYDC2	0	.	GRCh38	chr10	80366711	80366711	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacttctgaaactgtttcCacgaagaagaccatattcat	13	12	6	10	1	2	4	1	2	1	2	3	5	3	4	2	0	1	1	2	0	4	4	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.336C>T	p.=	p.S112S	ENST00000372198	4/4	219	88	131	159	159	0	strelka-varscan-mutect	DYDC2,synonymous_variant,p.=,ENST00000372199,;DYDC2,synonymous_variant,p.=,ENST00000372197,;DYDC2,synonymous_variant,p.=,ENST00000256039,NM_032372.5;DYDC2,synonymous_variant,p.=,ENST00000372198,NM_001270042.1;DYDC2,synonymous_variant,p.=,ENST00000616870,NM_001270041.1;DYDC2,synonymous_variant,p.=,ENST00000444807,;DYDC2,synonymous_variant,p.=,ENST00000411538,;	T	ENST00000372198	Transcript	synonymous_variant	374/1736	336/576	112/191	S	tcC/tcT		1		1	DYDC2	HGNC	HGNC:23468	protein_coding	YES	CCDS58088.1	ENSP00000361272		A0A0A0MRQ7	UPI000046FF92	NM_001270042.1			4/4		hmmpanther:PTHR23356:SF3,hmmpanther:PTHR23356																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	67	80366711	80366711	C	T	1	0	0	0	0	0	0	0	1	4662	581	21	3		3	DYDC2	10	80366711	Silent	SNP	C	C3N-01016_TP	26343616	80366711	53430711	216	21785											
AL365273.1	0	.	GRCh38	chr10	95847655	95847655	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accagttactgcccttactcCcagtgtgccttcaatgggat	8	12	8	13	0	1	0	1	0	0	0	2	1	2	1	4	1	4	1	4	1	3	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1059C>A	p.=	p.S353S	ENST00000371207	7/10	349	288	61	260	260	0	strelka-varscan-mutect	ENTPD1,synonymous_variant,p.=,ENST00000453258,NM_001098175.1;ENTPD1,synonymous_variant,p.=,ENST00000371205,NM_001164179.1,NM_001776.5;ENTPD1,synonymous_variant,p.=,ENST00000371207,NM_001164178.1;ENTPD1,synonymous_variant,p.=,ENST00000543964,NM_001164181.1;AL365273.1,synonymous_variant,p.=,ENST00000539125,NM_001164182.1,NM_001164183.1;ENTPD1-AS1,intron_variant,,ENST00000416301,;RP11-429G19.3,intron_variant,,ENST00000433113,;ENTPD1,downstream_gene_variant,,ENST00000490659,;ENTPD1,downstream_gene_variant,,ENST00000494070,;ENTPD1,downstream_gene_variant,,ENST00000635677,;ENTPD1,downstream_gene_variant,,ENST00000422161,;ENTPD1,3_prime_UTR_variant,,ENST00000635076,;ENTPD1,downstream_gene_variant,,ENST00000371206,;ENTPD1,downstream_gene_variant,,ENST00000483213,;	A	ENST00000371207	Transcript	synonymous_variant	1122/1903	1059/1569	353/522	S	tcC/tcA		1		1	ENTPD1	HGNC	HGNC:3363	protein_coding	YES	CCDS53556.1	ENSP00000360250	P49961		UPI0000EE3B3A	NM_001164178.1			7/10		hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF32,Pfam_domain:PF01150																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	67	95847655	95847655	C	A	1	0	0	0	0	0	0	0	1	578	610	22	2		2	AL365273.1	10	95847655	Silent	SNP	C	C3N-01016_TP	15480944	95847655	37949767	217	21786											
HPSE2	0	.	GRCh38	chr10	99144390	99144390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctaaggcaacatcacttCgaacaatgtctacaaaaaga	18	9	5	9	1	3	1	1	0	2	1	4	2	3	1	0	1	3	1	0	1	8	4	rs767173222		C3N-01016_TP	C3N-01016_NB	C	C																c.458G>T	p.Arg153Leu	p.R153L	ENST00000370552	3/12	174	80	94	124	124	0	strelka-varscan-mutect	HPSE2,missense_variant,p.Arg153Leu,ENST00000370552,NM_021828.4;HPSE2,missense_variant,p.Arg153Leu,ENST00000370549,NM_001166244.1;HPSE2,missense_variant,p.Arg153Leu,ENST00000370546,NM_001166246.1;HPSE2,intron_variant,,ENST00000628193,NM_001166245.1;	A	ENST00000370552	Transcript	missense_variant	518/2295	458/1779	153/592	R/L	cGa/cTa	rs767173222	1		-1	HPSE2	HGNC	HGNC:18374	protein_coding	YES	CCDS7477.1	ENSP00000359583	Q8WWQ2		UPI00001AEEC0	NM_021828.4	tolerated(0.18)		3/12																			MODERATE	1	SNV	1			1										PASS		rs767173222	.												A	3	1	67	99144390	99144390	C	A	1	0	0	0	0	1	0	0	0	7240	884	31	1		1	HPSE2	10	99144390	Missense_Mutation	SNP	C	C3N-01016_TP	3296735	99144390	34653032	218	21787											
LBX1	0	.	GRCh38	chr10	101228687	101228687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctccgcacagacggcttGttgaggatgtcctcgatgct	6	12	11	12	3	1	2	0	1	1	1	4	4	2	3	2	2	1	4	2	2	0	3	rs770184475		C3N-01016_TP	C3N-01016_NB	G	G																c.129C>A	p.Asn43Lys	p.N43K	ENST00000370193	1/2	428	276	152	397	397	0	strelka-varscan-mutect	LBX1,missense_variant,p.Asn43Lys,ENST00000370193,NM_006562.4;LBX1-AS1,upstream_gene_variant,,ENST00000454527,;LBX1-AS1,upstream_gene_variant,,ENST00000546988,;LBX1-AS1,upstream_gene_variant,,ENST00000547077,;	T	ENST00000370193	Transcript	missense_variant	1108/2900	129/846	43/281	N/K	aaC/aaA	rs770184475	1		-1	LBX1	HGNC	HGNC:16960	protein_coding	YES	CCDS31270.1	ENSP00000359212	P52954		UPI00001F95A1	NM_006562.4	deleterious(0.04)		1/2		hmmpanther:PTHR24336,hmmpanther:PTHR24336:SF9																	MODERATE	1	SNV	1			1										PASS		rs770184475	.												T	3	4	67	101228687	101228687	G	T	1	0	0	0	0	1	0	0	0	8559	1368	48	2		2	LBX1	10	101228687	Missense_Mutation	SNP	G	C3N-01016_TP	2084297	101228687	32568735	219	21788											
VWA2	0	.	GRCh38	chr10	114285963	114285963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgagcctggaatgcaGggtcgacctcctcttcctgc	7	9	12	13	1	1	1	0	1	1	0	4	4	3	2	4	2	4	2	4	2	2	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1022G>C	p.Arg341Thr	p.R341T	ENST00000392982	11/14	90	43	47	46	46	0	strelka-varscan-mutect	VWA2,missense_variant,p.Arg341Thr,ENST00000392982,NM_001272046.1;VWA2,missense_variant,p.Arg37Thr,ENST00000603594,;CTB-1144G6.6,upstream_gene_variant,,ENST00000622689,;VWA2,non_coding_transcript_exon_variant,,ENST00000298715,;	C	ENST00000392982	Transcript	missense_variant	1272/2794	1022/2268	341/755	R/T	aGg/aCg		1		1	VWA2	HGNC	HGNC:24709	protein_coding	YES	CCDS7589.2	ENSP00000376708	Q5GFL6		UPI00004C7AA3	NM_001272046.1	tolerated(0.47)		11/14		hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF117,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		rs1476870062	.												C	3	2	67	114285963	114285963	G	C	1	0	0	0	0	1	0	0	0	17793	1000	35	4		4	VWA2	10	114285963	Missense_Mutation	SNP	G	C3N-01016_TP	13057276	114285963	19511459	220	21789											
VAX1	0	.	GRCh38	chr10	117136500	117136500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggagaggttaagctgccggGcgagctcggtcctctcgcgg	5	7	17	12	6	1	1	0	0	1	1	4	3	2	1	2	5	3	3	2	5	1	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.401C>A	p.Ala134Asp	p.A134D	ENST00000369206	2/3	256	144	112	243	243	0	strelka-varscan-mutect	VAX1,missense_variant,p.Ala134Asp,ENST00000277905,NM_199131.2;VAX1,missense_variant,p.Ala134Asp,ENST00000369206,NM_001112704.1;	T	ENST00000369206	Transcript	missense_variant	401/1723	401/1005	134/334	A/D	gCc/gAc		1		-1	VAX1	HGNC	HGNC:12660	protein_coding	YES	CCDS44483.1	ENSP00000358207	Q5SQQ9		UPI000013DB43	NM_001112704.1	deleterious(0)		2/3		Gene3D:1.10.10.60,Pfam_domain:PF00046,Prints_domain:PR00031,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,hmmpanther:PTHR24339,hmmpanther:PTHR24339:SF32,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	67	117136500	117136500	G	T	1	0	0	0	0	1	0	0	0	17679	1203	42	2		2	VAX1	10	117136500	Missense_Mutation	SNP	G	C3N-01016_TP	2850537	117136500	16660922	221	21790											
CFAP46	0	.	GRCh38	chr10	132920178	132920178	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcccctgttcttcccggtGgagactgagggcggaaatgc	6	8	15	12	3	1	2	0	1	1	1	2	4	2	3	3	5	1	1	3	5	1	2	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1611C>A	p.=	p.S537S	ENST00000368586	14/58	90	49	41	65	65	0	strelka-varscan-mutect	CFAP46,synonymous_variant,p.=,ENST00000368586,NM_001200049.2;CFAP46,upstream_gene_variant,,ENST00000486104,;	T	ENST00000368586	Transcript	synonymous_variant	1712/8278	1611/8148	537/2715	S	tcC/tcA		1		-1	CFAP46	HGNC	HGNC:25247	protein_coding	YES	CCDS58101.1	ENSP00000357575	Q8IYW2		UPI0001B79116	NM_001200049.2			14/58		hmmpanther:PTHR15977,hmmpanther:PTHR15977:SF15																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	67	132920178	132920178	G	T	1	0	0	0	0	0	0	0	1	3021	1362	47	2		2	CFAP46	10	132920178	Silent	SNP	G	C3N-01016_TP	15783678	132920178	877244	222	21791											
ECHS1	0	.	GRCh38	chr10	133368979	133368979	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgggccttctcaccggcaTagatgatatcacacatcatg	11	10	8	12	1	3	2	3	1	1	1	4	2	3	2	2	2	0	1	2	2	2	3	rs759771909		C3N-01016_TP	C3N-01016_NB	T	T																c.458A>T	p.Tyr153Phe	p.Y153F	ENST00000368547	4/8	155	76	79	150	150	0	strelka-varscan-mutect	ECHS1,missense_variant,p.Tyr153Phe,ENST00000368547,NM_004092.3;MIR3944,downstream_gene_variant,,ENST00000581277,;	A	ENST00000368547	Transcript	missense_variant	814/1617	458/873	153/290	Y/F	tAt/tTt	rs759771909	1		-1	ECHS1	HGNC	HGNC:3151	protein_coding	YES	CCDS7681.1	ENSP00000357535	P30084		UPI000013CC49	NM_004092.3	tolerated(0.08)		4/8		hmmpanther:PTHR11941:SF54,hmmpanther:PTHR11941,Pfam_domain:PF00378,Gene3D:3.90.226.10,Superfamily_domains:SSF52096																	MODERATE	1	SNV	1			1										PASS		rs759771909	.												A	3	1	67	133368979	133368979	T	A	1	0	0	0	0	1	0	0	0	4722	1406	49	4		4	ECHS1	10	133368979	Missense_Mutation	SNP	T	C3N-01016_TP	448801	133368979	428443	223	21792											
DEAF1	0	.	GRCh38	chr11	644606	644606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacttcgtctgcctggaCggtgacagctgctgactggc	5	10	15	11	2	1	2	0	2	1	0	2	4	1	4	1	4	3	2	1	4	0	1			C3N-01016_TP	C3N-01016_NB	C	C																c.1642G>A	p.Val548Ile	p.V548I	ENST00000382409	12/12	417	390	27	489	488	1	strelka-varscan-mutect	DEAF1,missense_variant,p.Val548Ile,ENST00000382409,NM_021008.3;DRD4,downstream_gene_variant,,ENST00000176183,NM_000797.3;DEAF1,non_coding_transcript_exon_variant,,ENST00000527658,;DRD4,downstream_gene_variant,,ENST00000528733,;DEAF1,3_prime_UTR_variant,,ENST00000527170,;	T	ENST00000382409	Transcript	missense_variant	2127/2500	1642/1698	548/565	V/I	Gtc/Atc	COSM5373217	1		-1	DEAF1	HGNC	HGNC:14677	protein_coding	YES	CCDS31327.1	ENSP00000371846	O75398		UPI00001290E6	NM_021008.3	tolerated(0.07)		12/12		hmmpanther:PTHR10237											1						MODERATE	1	SNV	1		1	1										PASS		rs1472386316	.												T	3	4	67	644606	644606	C	T	1	0	0	0	0	1	0	0	0	4183	536	19	1		1	DEAF1	11	644606	Missense_Mutation	SNP	C	C3N-01016_TP		644606	134442016	224	21793											
MUC5B	0	.	GRCh38	chr11	1240921	1240921	+	Missense_Mutation	SNP	C	C	A																															tccagctggtacaatgggcaCcgcccagagcccggcctggg																								novel		C3N-01016_TP	C3N-01016_NB	C	C																c.4041C>A	p.His1347Gln	p.H1347Q	ENST00000529681	31/49	115	104	11	171	171	0	strelka-varscan-mutect	MUC5B,missense_variant,p.His1347Gln,ENST00000529681,NM_002458.2;RP11-532E4.2,downstream_gene_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;	A	ENST00000529681	Transcript	missense_variant	4099/17911	4041/17289	1347/5762	H/Q	caC/caA		1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2	tolerated(0.16)		31/49		Pfam_domain:PF13330																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	67	1240921	1240921	C	A	1	0	0	0	0	1	0	0	0	9979	506	18	2		2	MUC5B	11	1240921	Missense_Mutation	SNP	C	C3N-01016_TP	596315	1240921	133845701	225	21794	465	2									
MUC5B	0	.	GRCh38	chr11	1240922	1240922	+	Missense_Mutation	SNP	C	C	A																															ccagctggtacaatgggcacCgcccagagcccggcctggga																								rs746643198		C3N-01016_TP	C3N-01016_NB	C	C																c.4042C>A	p.Arg1348Ser	p.R1348S	ENST00000529681	31/49	117	106	11	174	174	0	strelka-varscan-mutect	MUC5B,missense_variant,p.Arg1348Ser,ENST00000529681,NM_002458.2;RP11-532E4.2,downstream_gene_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;	A	ENST00000529681	Transcript	missense_variant	4100/17911	4042/17289	1348/5762	R/S	Cgc/Agc	rs746643198	1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2	tolerated(0.07)		31/49		Pfam_domain:PF13330																	MODERATE	1	SNV	5			1										PASS		rs746643198	.												A	3	1	67	1240922	1240922	C	A	1	0	0	0	0	1	0	0	0	9979	652	23	1		1	MUC5B	11	1240922	Missense_Mutation	SNP	C	C3N-01016_TP	1	1240922	133845700	226	21795	465	2									
ART1	0	.	GRCh38	chr11	3659831	3659831	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagccccacccgtccatcCccgccacccctgggcttccg	4	6	7	24	3	1	0	1	0	0	0	4	0	4	0	10	1	1	1	10	1	0	1			C3N-01016_TP	C3N-01016_NB	C	C																c.312C>A	p.=	p.S104S	ENST00000250693	3/5	100	57	43	83	83	0	strelka-varscan-mutect	ART1,synonymous_variant,p.=,ENST00000250693,NM_004314.2;Y_RNA,downstream_gene_variant,,ENST00000364409,;ART1,downstream_gene_variant,,ENST00000529556,;	A	ENST00000250693	Transcript	synonymous_variant	413/1312	312/984	104/327	S	tcC/tcA	COSM5273157	1		1	ART1	HGNC	HGNC:723	protein_coding	YES	CCDS7744.1	ENSP00000250693	P52961		UPI000013CCC8	NM_004314.2			3/5		Low_complexity_(Seg):seg,hmmpanther:PTHR10339,hmmpanther:PTHR10339:SF19,Pfam_domain:PF01129,Gene3D:3.90.176.10,Superfamily_domains:SSF56399											1						LOW	1	SNV	1		1	1										PASS		rs1421320555	.												A	2	1	67	3659831	3659831	C	A	1	0	0	0	0	0	0	0	1	1140	610	22	2		2	ART1	11	3659831	Silent	SNP	C	C3N-01016_TP	2418909	3659831	131426791	227	21796											
OR52M1	0	.	GRCh38	chr11	4545777	4545777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgacatgtggcgacagcaGggtcaataatgtctatgggc	10	10	13	8	1	2	1	1	1	1	0	2	2	2	1	0	3	1	1	0	3	3	3	rs747410605		C3N-01016_TP	C3N-01016_NB	G	G																c.587G>T	p.Arg196Met	p.R196M	ENST00000360213	1/1	113	102	11	141	141	0	strelka-varscan-mutect	OR52M1,missense_variant,p.Arg196Met,ENST00000360213,NM_001004137.1;	T	ENST00000360213	Transcript	missense_variant	587/954	587/954	196/317	R/M	aGg/aTg	rs747410605	1		1	OR52M1	HGNC	HGNC:15225	protein_coding	YES	CCDS31353.1	ENSP00000353343	Q8NGK5		UPI0000041C62	NM_001004137.1	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF136,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs747410605	.												T	3	4	67	4545777	4545777	G	T	1	0	0	0	0	1	0	0	0	11199	1000	35	2		2	OR52M1	11	4545777	Missense_Mutation	SNP	G	C3N-01016_TP	885946	4545777	130540845	228	21797											
OR51L1	0	.	GRCh38	chr11	4999081	4999081	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttggctctccatcctcttCtgtcttgcatatttggtagc	4	18	7	12	0	5	0	0	0	5	0	7	0	6	0	2	2	2	3	2	2	2	6			C3N-01016_TP	C3N-01016_NB	C	C																c.99C>T	p.=	p.F33F	ENST00000321543	1/1	152	94	58	157	157	0	strelka-varscan-mutect	OR51L1,synonymous_variant,p.=,ENST00000321543,NM_001004755.1;	T	ENST00000321543	Transcript	synonymous_variant	99/948	99/948	33/315	F	ttC/ttT	COSM3448393	1		1	OR51L1	HGNC	HGNC:14759	protein_coding	YES	CCDS31369.1	ENSP00000322156	Q8NGJ5	A0A126GVJ8	UPI0000041B76	NM_001004755.1			1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF37,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	67	4999081	4999081	C	T	1	0	0	0	0	0	0	0	1	11176	912	32	3		3	OR51L1	11	4999081	Silent	SNP	C	C3N-01016_TP	453304	4999081	130087541	229	21798											
OR52A5	0	.	GRCh38	chr11	5132555	5132555	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcagagaaaggaatccCaatccaacactgcactgact	15	6	8	12	0	0	2	0	1	0	1	2	4	2	3	2	2	2	2	2	2	4	0			C3N-01016_TP	C3N-01016_NB	C	C																c.88G>T	p.Gly30Trp	p.G30W	ENST00000307388	1/1	114	107	7	109	108	1	strelka-mutect	OR52A5,missense_variant,p.Gly30Trp,ENST00000307388,NM_001005160.2;	A	ENST00000307388	Transcript	missense_variant	88/951	88/951	30/316	G/W	Ggg/Tgg	COSM3935491	1		-1	OR52A5	HGNC	HGNC:19580	protein_coding	YES	CCDS31373.1	ENSP00000303469	Q9H2C5	A0A126GWD2	UPI0000046AEF	NM_001005160.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF48,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	67	5132555	5132555	C	A	1	0	0	0	0	1	0	0	0	11183	594	21	2		2	OR52A5	11	5132555	Missense_Mutation	SNP	C	C3N-01016_TP	133474	5132555	129954067	230	21799											
OR10A5	0	.	GRCh38	chr11	6846470	6846470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcctcacctacttctggcCtaaatcaaataattctcctg	11	13	4	13	0	4	0	2	0	2	0	5	0	4	0	4	1	2	0	4	1	6	6	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.788C>A	p.Pro263His	p.P263H	ENST00000299454	1/1	171	102	69	146	146	0	strelka-varscan-mutect	OR10A5,missense_variant,p.Pro263His,ENST00000299454,NM_178168.1;RP11-413N10.3,intron_variant,,ENST00000637205,;RP11-560B16.5,upstream_gene_variant,,ENST00000530632,;	A	ENST00000299454	Transcript	missense_variant	819/1054	788/954	263/317	P/H	cCt/cAt		1		1	OR10A5	HGNC	HGNC:15131	protein_coding	YES	CCDS7773.1	ENSP00000299454	Q9H207	A0A126GWR0	UPI000004C155	NM_178168.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	67	6846470	6846470	C	A	1	0	0	0	0	1	0	0	0	10969	681	24	2		2	OR10A5	11	6846470	Missense_Mutation	SNP	C	C3N-01016_TP	1713915	6846470	128240152	231	21800											
OLFML1	0	.	GRCh38	chr11	7488411	7488411	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatccggactctgctgaaTgcaagtaagaaaactgcatc	15	8	9	9	1	1	3	0	1	1	2	3	4	2	4	1	1	4	4	1	1	6	1	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.414T>A	p.Asn138Lys	p.N138K	ENST00000329293	2/3	120	104	16	97	97	0	strelka-varscan-mutect	OLFML1,missense_variant,p.Asn138Lys,ENST00000329293,NM_198474.3;OLFML1,missense_variant,p.Asn138Lys,ENST00000530135,;OLFML1,intron_variant,,ENST00000528758,;OLFML1,downstream_gene_variant,,ENST00000534244,;CTD-2516F10.2,intron_variant,,ENST00000622955,;CTD-2516F10.2,intron_variant,,ENST00000530201,;OLFML1,non_coding_transcript_exon_variant,,ENST00000528308,;	A	ENST00000329293	Transcript	missense_variant	808/2792	414/1209	138/402	N/K	aaT/aaA		1		1	OLFML1	HGNC	HGNC:24473	protein_coding	YES	CCDS7779.1	ENSP00000332511	Q6UWY5		UPI0000161991	NM_198474.3	tolerated(0.08)		2/3		hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	7488411	7488411	T	A	1	0	0	0	0	1	0	0	0	10931	1478	51	4		4	OLFML1	11	7488411	Missense_Mutation	SNP	T	C3N-01016_TP	641941	7488411	127598211	232	21801											
OTOG	0	.	GRCh38	chr11	17633711	17633711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcgactccacataccaGgcatgtgtgacagcctgtga	10	8	10	13	1	0	2	0	2	0	0	2	3	2	2	4	1	3	1	4	1	1	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.7140G>C	p.Gln2380His	p.Q2380H	ENST00000399391	42/55	46	33	13	55	55	0	strelka-varscan-mutect	OTOG,missense_variant,p.Gln2368His,ENST00000399397,NM_001292063.1;OTOG,missense_variant,p.Gln2380His,ENST00000399391,NM_001277269.1;OTOG,missense_variant,p.Gln1386His,ENST00000342528,;	C	ENST00000399391	Transcript	missense_variant	7140/8778	7140/8778	2380/2925	Q/H	caG/caC		1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1	deleterious(0)		42/55		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228,Gene3D:2.10.25.10,Superfamily_domains:SSF57567																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	67	17633711	17633711	G	C	1	0	0	0	0	1	0	0	0	11370	991	35	4		4	OTOG	11	17633711	Missense_Mutation	SNP	G	C3N-01016_TP	10145300	17633711	117452911	233	21802											
MRGPRX4	0	.	GRCh38	chr11	18173436	18173436	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgcatgcgcaggaacgcTgtctccatctacatcctcaa	10	9	7	15	3	3	0	1	0	2	0	5	1	4	1	3	1	4	3	3	1	4	2	rs552161707		C3N-01016_TP	C3N-01016_NB	T	T																c.180T>A	p.=	p.A60A	ENST00000314254	1/1	125	84	41	153	153	0	strelka-varscan-mutect	MRGPRX4,synonymous_variant,p.=,ENST00000314254,NM_054032.3;MRGPRX4,synonymous_variant,p.=,ENST00000618161,;RP11-113D6.6,intron_variant,,ENST00000527671,;	A	ENST00000314254	Transcript	synonymous_variant	600/1444	180/969	60/322	A	gcT/gcA	rs552161707	1		1	MRGPRX4	HGNC	HGNC:17617	protein_coding	YES	CCDS7831.1	ENSP00000314042	Q96LA9		UPI0000061F60	NM_054032.3			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF23,hmmpanther:PTHR11334,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR02108																	LOW		SNV				1										PASS		rs552161707	.												A	2	1	67	18173436	18173436	T	A	1	0	0	0	0	0	0	0	1	9736	1567	55	4		4	MRGPRX4	11	18173436	Silent	SNP	T	C3N-01016_TP	539725	18173436	116913186	234	21803											
KIAA1549L	0	.	GRCh38	chr11	33591293	33591293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcaaggggcagatgaGgaggtcatccctgtgactca	10	6	15	10	0	2	3	2	2	0	1	3	4	3	4	2	5	1	2	2	5	1	0	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.3732G>T	p.Glu1244Asp	p.E1244D	ENST00000321505	11/20	217	203	14	240	240	0	strelka-varscan-mutect	KIAA1549L,missense_variant,p.Glu1244Asp,ENST00000321505,NM_012194.2;KIAA1549L,missense_variant,p.Glu642Asp,ENST00000526400,;KIAA1549L,intron_variant,,ENST00000265654,;	T	ENST00000321505	Transcript	missense_variant	3912/11678	3732/5550	1244/1849	E/D	gaG/gaT		1		1	KIAA1549L	HGNC	HGNC:24836	protein_coding	YES	CCDS44565.2	ENSP00000315295	Q6ZVL6		UPI0000E59322	NM_012194.2	tolerated(0.82)		11/20		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3,Pfam_domain:PF12877																	MODERATE	1	SNV	1			1										PASS		rs1333032923	.												T	3	4	67	33591293	33591293	G	T	1	0	0	0	0	1	0	0	0	8121	991	35	2		2	KIAA1549L	11	33591293	Missense_Mutation	SNP	G	C3N-01016_TP	15417857	33591293	101495329	235	21804											
RAG1	0	.	GRCh38	chr11	36575018	36575018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttggtgtctgctttgatgGacatggaagaagacatcttg	9	14	12	6	0	2	3	0	1	2	2	2	5	2	5	0	3	1	1	0	3	2	3	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1714G>A	p.Asp572Asn	p.D572N	ENST00000299440	2/2	314	192	122	233	233	0	strelka-varscan-mutect	RAG1,missense_variant,p.Asp572Asn,ENST00000299440,NM_000448.2;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,missense_variant,p.Asp572Asn,ENST00000534663,;	A	ENST00000299440	Transcript	missense_variant	1826/6564	1714/3132	572/1043	D/N	Gac/Aac		1		1	RAG1	HGNC	HGNC:9831	protein_coding	YES	CCDS7902.1	ENSP00000299440	P15918		UPI000013E5A0	NM_000448.2	deleterious_low_confidence(0)		2/2		Pfam_domain:PF12940,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	36575018	36575018	G	A	1	0	0	0	0	1	0	0	0	13164	1174	41	3		3	RAG1	11	36575018	Missense_Mutation	SNP	G	C3N-01016_TP	2983725	36575018	98511604	236	21805											
PACSIN3	0	.	GRCh38	chr11	47178903	47178903	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggctctcaccctggggacCccggggactggggtgggggt	3	7	19	12	1	1	0	1	0	1	0	2	2	1	2	3	9	0	1	3	9	0	0	rs753955865		C3N-01016_TP	C3N-01016_NB	C	C																c.1028G>T	p.Gly343Val	p.G343V	ENST00000539589	9/11	193	176	17	185	184	1	strelka-varscan-mutect	PACSIN3,missense_variant,p.Gly343Val,ENST00000539589,NM_001184975.1;PACSIN3,missense_variant,p.Gly343Val,ENST00000298838,NM_016223.4,NM_001184974.1;PACSIN3,missense_variant,p.Gly343Val,ENST00000528462,;PACSIN3,missense_variant,p.Gly66Val,ENST00000533686,;ARFGAP2,upstream_gene_variant,,ENST00000524782,NM_032389.4;ARFGAP2,upstream_gene_variant,,ENST00000426335,NM_001242832.1;ARFGAP2,upstream_gene_variant,,ENST00000627920,;ARFGAP2,upstream_gene_variant,,ENST00000525398,;PACSIN3,downstream_gene_variant,,ENST00000530513,;PACSIN3,downstream_gene_variant,,ENST00000528201,;ARFGAP2,upstream_gene_variant,,ENST00000527927,;ARFGAP2,upstream_gene_variant,,ENST00000525314,;ARFGAP2,upstream_gene_variant,,ENST00000528444,;PACSIN3,downstream_gene_variant,,ENST00000525725,;PACSIN3,downstream_gene_variant,,ENST00000531226,;PACSIN3,downstream_gene_variant,,ENST00000530405,;PACSIN3,downstream_gene_variant,,ENST00000524509,;ARFGAP2,upstream_gene_variant,,ENST00000530596,;ARFGAP2,upstream_gene_variant,,ENST00000526342,;ARFGAP2,upstream_gene_variant,,ENST00000629231,;MIR6745,downstream_gene_variant,,ENST00000612694,;ARFGAP2,upstream_gene_variant,,ENST00000395449,;ARFGAP2,upstream_gene_variant,,ENST00000531750,;ARFGAP2,upstream_gene_variant,,ENST00000533939,;ARFGAP2,upstream_gene_variant,,ENST00000529599,;PACSIN3,3_prime_UTR_variant,,ENST00000532457,;ARFGAP2,upstream_gene_variant,,ENST00000526185,;ARFGAP2,upstream_gene_variant,,ENST00000533243,;ARFGAP2,upstream_gene_variant,,ENST00000524727,;ARFGAP2,upstream_gene_variant,,ENST00000527097,;ARFGAP2,upstream_gene_variant,,ENST00000532478,;ARFGAP2,upstream_gene_variant,,ENST00000529455,;ARFGAP2,upstream_gene_variant,,ENST00000532438,;ARFGAP2,upstream_gene_variant,,ENST00000528041,;ARFGAP2,upstream_gene_variant,,ENST00000529439,;ARFGAP2,upstream_gene_variant,,ENST00000528708,;ARFGAP2,upstream_gene_variant,,ENST00000524586,;ARFGAP2,upstream_gene_variant,,ENST00000528072,;ARFGAP2,upstream_gene_variant,,ENST00000530794,;	A	ENST00000539589	Transcript	missense_variant	1371/2009	1028/1275	343/424	G/V	gGg/gTg	rs753955865	1		-1	PACSIN3	HGNC	HGNC:8572	protein_coding	YES	CCDS31481.1	ENSP00000440945	Q9UKS6		UPI0000034CB1	NM_001184975.1	tolerated(0.48)		9/11		hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF18,Low_complexity_(Seg):seg																	MODERATE		SNV	2			1										PASS		rs753955865	.												A	3	1	67	47178903	47178903	C	A	1	0	0	0	0	1	0	0	0	11454	623	22	2		2	PACSIN3	11	47178903	Missense_Mutation	SNP	C	C3N-01016_TP	10603885	47178903	87907719	237	21806											
OR4B1	0	.	GRCh38	chr11	48217728	48217728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaaaaaggagaatccaGggagggagtgaaaaaagagc	19	2	16	4	0	0	3	0	1	0	2	1	7	1	6	1	4	2	1	1	4	6	0	rs763310670		C3N-01016_TP	C3N-01016_NB	G	G																c.919G>T	p.Gly307Trp	p.G307W	ENST00000309562	1/1	55	47	8	46	46	0	strelka-varscan-mutect	OR4B1,missense_variant,p.Gly307Trp,ENST00000309562,NM_001005470.1;	T	ENST00000309562	Transcript	missense_variant	937/971	919/930	307/309	G/W	Ggg/Tgg	rs763310670	1		1	OR4B1	HGNC	HGNC:8290	protein_coding	YES	CCDS31485.1	ENSP00000311605	Q8NGF8	A0A126GVH6	UPI0000041BD9	NM_001005470.1	deleterious(0)		1/1																			MODERATE	1	SNV				1										PASS		rs763310670	.												T	3	4	67	48217728	48217728	G	T	1	0	0	0	0	1	0	0	0	11121	1000	35	2		2	OR4B1	11	48217728	Missense_Mutation	SNP	G	C3N-01016_TP	1038825	48217728	86868894	238	21807											
OR4A5	0	.	GRCh38	chr11	54706924	54706924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttacagaatttgtcctcctgGgcttttctcaggatcctggt	6	16	9	10	0	1	1	1	0	1	1	5	2	4	2	3	3	1	1	3	3	2	4	rs376153513		C3N-01016_TP	C3N-01016_NB	G	G																c.40G>T	p.Gly14Cys	p.G14C	ENST00000319760	1/1	94	52	42	85	85	0	strelka-varscan-mutect	OR4A5,missense_variant,p.Gly14Cys,ENST00000319760,NM_001005272.3;	T	ENST00000319760	Transcript	missense_variant	40/948	40/948	14/315	G/C	Ggc/Tgc	rs376153513,COSM322299	1		1	OR4A5	HGNC	HGNC:15162	protein_coding	YES	CCDS73289.1	ENSP00000367664	Q8NH83	A0A126GWJ2	UPI0000041D58	NM_001005272.3	deleterious_low_confidence(0)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF306,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs376153513	.												T	3	4	67	54706924	54706924	G	T	1	0	0	0	0	1	0	0	0	11120	1232	43	2		2	OR4A5	11	54706924	Missense_Mutation	SNP	G	C3N-01016_TP	6489196	54706924	80379698	239	21808											
OR4C15	0	.	GRCh38	chr11	55554960	55554960	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaattctttttactttccaGcttcccttttgtggccccaa	7	17	4	13	0	1	0	0	0	1	0	3	0	3	0	4	1	2	1	4	1	3	8	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.654G>A	p.=	p.Q218Q	ENST00000314644	1/1	193	120	73	188	188	0	strelka-varscan-mutect	OR4C15,synonymous_variant,p.=,ENST00000314644,NM_001001920.1;	A	ENST00000314644	Transcript	synonymous_variant	654/1113	654/1113	218/370	Q	caG/caA		1		1	OR4C15	HGNC	HGNC:15171	protein_coding	YES	CCDS31501.1	ENSP00000324958	Q8NGM1		UPI00003B288E	NM_001001920.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF14,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs1467610630	.												A	2	1	67	55554960	55554960	G	A	1	0	0	0	0	0	0	0	1	11125	962	34	3		3	OR4C15	11	55554960	Silent	SNP	G	C3N-01016_TP	848036	55554960	79531662	240	21809											
OR4P4	0	.	GRCh38	chr11	55638716	55638716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagggatggcctatgaccGctatgtggccatttgcaagc	9	9	12	11	1	0	1	0	1	0	0	0	2	0	2	3	3	2	2	3	3	3	3	rs143338269		C3N-01016_TP	C3N-01016_NB	G	G																c.359G>T	p.Arg120Leu	p.R120L	ENST00000314612	1/1	124	58	66	145	145	0	strelka-varscan-mutect	OR4P4,missense_variant,p.Arg120Leu,ENST00000314612,NM_001004124.2;	T	ENST00000314612	Transcript	missense_variant	359/939	359/939	120/312	R/L	cGc/cTc	rs143338269,COSM3670791	1		1	OR4P4	HGNC	HGNC:15180	protein_coding	YES	CCDS31504.1	ENSP00000324831	Q8NGL7		UPI0000061E8A	NM_001004124.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF386,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV			0,1	1										PASS		rs143338269	.												T	3	4	67	55638716	55638716	G	T	1	0	0	0	0	1	0	0	0	11156	1087	38	1		1	OR4P4	11	55638716	Missense_Mutation	SNP	G	C3N-01016_TP	83756	55638716	79447906	241	21810											
OR5D18	0	.	GRCh38	chr11	55820432	55820432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgcccaactccaaaaactCcaggcacacagtcaaagtgg	14	6	8	13	0	1	0	1	0	0	0	3	0	3	0	3	2	3	1	3	2	4	0			C3N-01016_TP	C3N-01016_NB	C	C																c.803C>T	p.Ser268Phe	p.S268F	ENST00000333976	1/1	156	125	31	188	188	0	strelka-varscan-mutect	OR5D18,missense_variant,p.Ser268Phe,ENST00000333976,NM_001001952.1;	T	ENST00000333976	Transcript	missense_variant	803/942	803/942	268/313	S/F	tCc/tTc	COSM3449041,COSM3791565	1		1	OR5D18	HGNC	HGNC:15285	protein_coding	YES	CCDS31510.1	ENSP00000335025	Q8NGL1		UPI0000046197	NM_001001952.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Superfamily_domains:SSF81321											1,1						MODERATE	1	SNV			1,1	1										PASS		.	.												T	3	4	67	55820432	55820432	C	T	1	0	0	0	0	1	0	0	0	11227	855	30	3		3	OR5D18	11	55820432	Missense_Mutation	SNP	C	C3N-01016_TP	181716	55820432	79266190	242	21811											
OR5M11	0	.	GRCh38	chr11	56542363	56542363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcaggacattcttcaaggCctgcttcacatctttattcc	8	15	5	13	0	5	0	3	0	3	0	7	1	6	1	2	2	1	1	2	2	2	6	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.895G>T	p.Ala299Ser	p.A299S	ENST00000528616	1/1	41	27	14	30	30	0	strelka-varscan-mutect	OR5M11,missense_variant,p.Ala299Ser,ENST00000528616,NM_001005245.1;	A	ENST00000528616	Transcript	missense_variant	895/918	895/918	299/305	A/S	Gcc/Tcc		1		-1	OR5M11	HGNC	HGNC:15291	protein_coding	YES	CCDS53629.1	ENSP00000432417	Q96RB7	A0A126GVL9	UPI00000405CF	NM_001005245.1	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF97,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	67	56542363	56542363	C	A	1	0	0	0	0	1	0	0	0	11243	739	26	2		2	OR5M11	11	56542363	Missense_Mutation	SNP	C	C3N-01016_TP	721931	56542363	78544259	243	21812											
MS4A8	0	.	GRCh38	chr11	60715026	60715026	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctgcctacagaacccTggaatggcgatttctggcgt	7	11	11	12	2	2	1	0	0	2	1	2	3	2	2	2	3	4	1	2	3	3	2	rs368354928		C3N-01016_TP	C3N-01016_NB	T	T																c.540T>A	p.=	p.P180P	ENST00000300226	6/7	223	140	83	233	233	0	strelka-varscan-mutect	MS4A8,missense_variant,p.Trp163Arg,ENST00000529752,;MS4A8,synonymous_variant,p.=,ENST00000300226,NM_031457.1;MS4A8,downstream_gene_variant,,ENST00000525458,;	A	ENST00000300226	Transcript	synonymous_variant	743/1353	540/753	180/250	P	ccT/ccA	rs368354928	1		1	MS4A8	HGNC	HGNC:13380	protein_coding	YES	CCDS7990.1	ENSP00000300226	Q9BY19		UPI0000047F97	NM_031457.1			6/7		Transmembrane_helices:TMhelix,hmmpanther:PTHR23320:SF56,hmmpanther:PTHR23320																	LOW	1	SNV	1			1										PASS		rs368354928	.												A	2	1	67	60715026	60715026	T	A	1	0	0	0	0	0	0	0	1	9846	1594	55	4		4	MS4A8	11	60715026	Silent	SNP	T	C3N-01016_TP	4172663	60715026	74371596	244	21813											
CHRM1	0	.	GRCh38	chr11	62910008	62910008	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatggcactcagggtccGagccgccttcttctccttga	6	10	12	13	2	3	1	1	1	2	0	5	4	4	2	4	3	1	1	4	3	0	3	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1093C>A	p.=	p.R365R	ENST00000306960	2/2	184	107	77	182	182	0	strelka-varscan-mutect	CHRM1,synonymous_variant,p.=,ENST00000306960,NM_000738.2;CHRM1,synonymous_variant,p.=,ENST00000543973,;CHRM1,downstream_gene_variant,,ENST00000536524,;AP000438.2,intron_variant,,ENST00000543624,;	T	ENST00000306960	Transcript	synonymous_variant	1635/2964	1093/1383	365/460	R	Cgg/Agg		1		-1	CHRM1	HGNC	HGNC:1950	protein_coding	YES	CCDS8040.1	ENSP00000306490	P11229	Q53XZ3	UPI00001252AB	NM_000738.2			2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF283,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV	1			1										PASS		rs1158763845	.												T	2	4	67	62910008	62910008	G	T	1	0	0	0	0	0	0	0	1	3136	1057	37	1		1	CHRM1	11	62910008	Silent	SNP	G	C3N-01016_TP	2194982	62910008	72176614	245	21814											
RTN3	0	.	GRCh38	chr11	63720450	63720451	+	Frame_Shift_Ins	INS	-	-	C																															taaacatatagatgattcctINSccccagaggacctgatagca																								novel		C3N-01016_TP	C3N-01016_NB	-	-																c.1952dupC	p.Glu652ArgfsTer13	p.E652Rfs*13	ENST00000377819	3/9	81	62	19	59	59	0	sindel-varindel-pindel	RTN3,frameshift_variant,p.Glu652ArgfsTer13,ENST00000377819,NM_001265589.1;RTN3,frameshift_variant,p.Glu633ArgfsTer13,ENST00000339997,NM_201428.2;RTN3,frameshift_variant,p.Glu540ArgfsTer13,ENST00000540798,NM_001265590.1;RTN3,intron_variant,,ENST00000356000,NM_201429.2;RTN3,intron_variant,,ENST00000537981,NM_006054.3;RTN3,intron_variant,,ENST00000341307,NM_201430.2;RTN3,intron_variant,,ENST00000354497,NM_001265591.1;RTN3,intron_variant,,ENST00000542238,;RTN3,downstream_gene_variant,,ENST00000545432,;RTN3,downstream_gene_variant,,ENST00000543552,;RTN3,intron_variant,,ENST00000536011,;RTN3,intron_variant,,ENST00000543123,;	C	ENST00000377819	Transcript	frameshift_variant	2102-2103/4937	1948-1949/3099	650/1032	S/SX	tcc/tCcc		1		1	RTN3	HGNC	HGNC:10469	protein_coding	YES	CCDS58141.1	ENSP00000367050	O95197		UPI00004546A2	NM_001265589.1			3/9		hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF1																	HIGH	1	insertion	1	4		1										PASS		.	.												C	7	5	67	63720450	63720450	-	C	1	0	1	1	0	0	0	0	0	13987	1551	54	0		0	RTN3	11	63720450	Frame_Shift_Ins	INS	-	C3N-01016_TP	810442	63720450	71366172	246	21815											
RIN1	0	.	GRCh38	chr11	66334679	66334679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccgcggctgtgtgtcggtCctgcatcagtgctgccgcag	3	9	15	14	4	1	0	1	0	0	0	3	0	2	0	3	2	3	4	3	2	0	0	rs745661610		C3N-01016_TP	C3N-01016_NB	C	C																c.1120G>T	p.Asp374Tyr	p.D374Y	ENST00000311320	6/10	651	255	396	508	508	0	strelka-varscan-mutect	RIN1,missense_variant,p.Asp374Tyr,ENST00000311320,NM_004292.2;RIN1,missense_variant,p.Asp269Tyr,ENST00000530056,;BRMS1,downstream_gene_variant,,ENST00000359957,NM_015399.3;BRMS1,downstream_gene_variant,,ENST00000425825,NM_001024957.1;BRMS1,downstream_gene_variant,,ENST00000524699,;BRMS1,downstream_gene_variant,,ENST00000530756,;RIN1,downstream_gene_variant,,ENST00000627248,;RP11-867G23.12,non_coding_transcript_exon_variant,,ENST00000526655,;RIN1,upstream_gene_variant,,ENST00000524804,;RIN1,3_prime_UTR_variant,,ENST00000530745,;RIN1,3_prime_UTR_variant,,ENST00000534824,;RIN1,non_coding_transcript_exon_variant,,ENST00000526246,;BRMS1,downstream_gene_variant,,ENST00000530238,;BRMS1,downstream_gene_variant,,ENST00000527375,;RIN1,downstream_gene_variant,,ENST00000528006,;	A	ENST00000311320	Transcript	missense_variant	1247/2693	1120/2352	374/783	D/Y	Gac/Tac	rs745661610	1		-1	RIN1	HGNC	HGNC:18749	protein_coding	YES	CCDS31614.1	ENSP00000310406	Q13671	A0A0S2Z4U0	UPI000013F14D	NM_004292.2	deleterious(0)		6/10		hmmpanther:PTHR23101,hmmpanther:PTHR23101:SF62																	MODERATE	1	SNV	1			1										PASS		rs745661610	.												A	3	1	67	66334679	66334679	C	A	1	0	0	0	0	1	0	0	0	13545	855	30	2		2	RIN1	11	66334679	Missense_Mutation	SNP	C	C3N-01016_TP	2614229	66334679	68751943	247	21816											
CTSF	0	.	GRCh38	chr11	66566169	66566169	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtgcggaactcctcctcTgcgggcaaaggtgggcaggg	8	7	16	10	2	1	0	0	0	1	0	3	1	3	1	2	5	3	2	2	5	3	1	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.722-2A>C		p.X241_splice	ENST00000310325		159	60	99	110	110	0	strelka-varscan-mutect	CTSF,splice_acceptor_variant,,ENST00000310325,NM_003793.3;CTSF,splice_acceptor_variant,,ENST00000524994,;ACTN3,downstream_gene_variant,,ENST00000502692,NM_001258371.2;ACTN3,downstream_gene_variant,,ENST00000513398,NM_001104.3;CTSF,downstream_gene_variant,,ENST00000526010,;CTSF,downstream_gene_variant,,ENST00000533168,;CTSF,downstream_gene_variant,,ENST00000529561,;CTSF,splice_acceptor_variant,,ENST00000527141,;CTSF,upstream_gene_variant,,ENST00000525733,;CTSF,upstream_gene_variant,,ENST00000529199,;CTSF,upstream_gene_variant,,ENST00000530565,;	G	ENST00000310325	Transcript	splice_acceptor_variant	-/2035	722/1455	241/484				1		-1	CTSF	HGNC	HGNC:2531	protein_coding	YES	CCDS8144.1	ENSP00000310832	Q9UBX1		UPI0000001657	NM_003793.3				5/12																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	67	66566169	66566169	T	G	1	0	0	0	0	0	0	1	0	3843	1594	55	5		5	CTSF	11	66566169	Splice_Site	SNP	T	C3N-01016_TP	231490	66566169	68520453	248	21817											
FOLR1	0	.	GRCh38	chr11	72195299	72195299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggaagaatgcctgctGttctaccaacaccagccagg	11	7	11	12	0	1	1	0	0	1	1	1	3	1	3	4	3	5	2	4	3	4	2	rs779015471		C3N-01016_TP	C3N-01016_NB	G	G																c.197G>T	p.Cys66Phe	p.C66F	ENST00000393679	3/5	573	216	357	400	399	1	strelka-varscan-mutect	FOLR1,missense_variant,p.Cys66Phe,ENST00000393679,;FOLR1,missense_variant,p.Cys66Phe,ENST00000312293,NM_016725.2;FOLR1,missense_variant,p.Cys66Phe,ENST00000393681,NM_016724.2;FOLR1,missense_variant,p.Cys66Phe,ENST00000393676,NM_000802.3,NM_016729.2;RP11-807H22.7,intron_variant,,ENST00000378140,;	T	ENST00000393679	Transcript	missense_variant	633/1331	197/774	66/257	C/F	tGt/tTt	rs779015471	1		1	FOLR1	HGNC	HGNC:3791	protein_coding	YES	CCDS8211.1	ENSP00000377284	P15328	A0A024R5H1	UPI0000000C4C		deleterious(0.02)		3/5		hmmpanther:PTHR10517:SF15,hmmpanther:PTHR10517,Pfam_domain:PF03024																	MODERATE	1	SNV	1			1										PASS		rs779015471	.												T	3	4	67	72195299	72195299	G	T	1	0	0	0	0	1	0	0	0	5841	1377	48	2		2	FOLR1	11	72195299	Missense_Mutation	SNP	G	C3N-01016_TP	5629130	72195299	62891323	249	21818											
SLCO2B1	0	.	GRCh38	chr11	75193474	75193474	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccctgtgggatgcggtgcCctttgcctgctggggatgct	2	11	17	11	1	0	0	0	0	0	0	0	2	0	2	3	5	5	2	3	5	0	1			C3N-01016_TP	C3N-01016_NB	C	C																c.1332C>A	p.=	p.A444A	ENST00000289575	9/14	95	31	64	52	52	0	strelka-varscan-mutect	SLCO2B1,synonymous_variant,p.=,ENST00000289575,NM_007256.4;SLCO2B1,synonymous_variant,p.=,ENST00000454962,;SLCO2B1,synonymous_variant,p.=,ENST00000532236,;SLCO2B1,synonymous_variant,p.=,ENST00000428359,NM_001145211.2;SLCO2B1,synonymous_variant,p.=,ENST00000525650,NM_001145212.2;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000531756,;SLCO2B1,upstream_gene_variant,,ENST00000530012,;SLCO2B1,upstream_gene_variant,,ENST00000528108,;	A	ENST00000289575	Transcript	synonymous_variant	1727/4494	1332/2130	444/709	A	gcC/gcA	COSM3870209	1		1	SLCO2B1	HGNC	HGNC:10962	protein_coding	YES	CCDS8235.1	ENSP00000289575		A0A024R5I4	UPI000000D99A	NM_007256.4			9/14		Gene3D:1.20.1250.20,Pfam_domain:PF03137,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF87,Low_complexity_(Seg):seg,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805,Transmembrane_helices:TMhelix											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	67	75193474	75193474	C	A	1	0	0	0	0	0	0	0	1	15014	610	22	2		2	SLCO2B1	11	75193474	Silent	SNP	C	C3N-01016_TP	2998175	75193474	59893148	250	21819											
MOGAT2	0	.	GRCh38	chr11	75728874	75728874	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggctcctggttacgctaTatccagaatcggttgcagaa	9	12	10	10	2	1	2	0	0	1	2	4	2	3	2	2	3	2	5	2	3	5	4	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.735T>A	p.Tyr245Ter	p.Y245*	ENST00000198801	5/6	465	177	288	342	342	0	strelka-varscan-mutect	MOGAT2,stop_gained,p.Tyr163Ter,ENST00000526712,;MOGAT2,stop_gained,p.Tyr245Ter,ENST00000198801,NM_025098.2;MOGAT2,upstream_gene_variant,,ENST00000624180,;MOGAT2,3_prime_UTR_variant,,ENST00000525093,;	A	ENST00000198801	Transcript	stop_gained	805/1404	735/1005	245/334	Y/*	taT/taA		1		1	MOGAT2	HGNC	HGNC:23248	protein_coding	YES	CCDS8240.1	ENSP00000198801	Q3SYC2		UPI000000D839	NM_025098.2			5/6		Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF5																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	67	75728874	75728874	T	A	1	0	0	0	0	0	1	0	0	9658	1413	49	4		4	MOGAT2	11	75728874	Nonsense_Mutation	SNP	T	C3N-01016_TP	535400	75728874	59357748	251	21820											
FAT3	0	.	GRCh38	chr11	92890632	92890632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagcgattactacctgggtgGttatgacattgacagtgaat	11	12	12	6	1	0	3	0	3	0	0	0	5	0	3	1	2	3	1	1	2	4	4	rs142403035		C3N-01016_TP	C3N-01016_NB	G	G																c.12839G>T	p.Gly4280Val	p.G4280V	ENST00000525166	27/27	171	96	75	185	185	0	strelka-varscan-mutect	FAT3,missense_variant,p.Gly4398Val,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Gly4280Val,ENST00000525166,;FAT3,missense_variant,p.Gly733Val,ENST00000533797,;FAT3,non_coding_transcript_exon_variant,,ENST00000489716,;FAT3,downstream_gene_variant,,ENST00000469900,;	T	ENST00000525166	Transcript	missense_variant	12861/18699	12839/13320	4280/4439	G/V	gGt/gTt	rs142403035,COSM4601798,COSM4601799,COSM4601800	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		deleterious(0)		27/27		hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026											0,1,1,1						MODERATE	1	SNV	5		0,1,1,1	1										PASS		rs142403035	.												T	3	4	67	92890632	92890632	G	T	1	0	0	0	0	1	0	0	0	5551	1261	44	2		2	FAT3	11	92890632	Missense_Mutation	SNP	G	C3N-01016_TP	17161758	92890632	42195990	252	21821											
CEP126	0	.	GRCh38	chr11	101981943	101981943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccaaaacaaactacaaggGgtacttcttatattgaagaa	18	9	7	7	0	1	2	0	1	1	1	1	2	1	2	1	2	5	1	1	2	10	6	rs766595119		C3N-01016_TP	C3N-01016_NB	G	G																c.3013G>A	p.Gly1005Ser	p.G1005S	ENST00000263468	8/11	126	81	45	53	53	0	strelka-varscan-mutect	CEP126,missense_variant,p.Gly1005Ser,ENST00000263468,NM_020802.3;CEP126,missense_variant,p.Gly39Ser,ENST00000532077,;CEP126,3_prime_UTR_variant,,ENST00000532529,;	A	ENST00000263468	Transcript	missense_variant	3283/7039	3013/3354	1005/1117	G/S	Ggt/Agt	rs766595119	1		1	CEP126	HGNC	HGNC:29264	protein_coding	YES	CCDS31658.1	ENSP00000263468	Q9P2H0		UPI0004433B8D	NM_020802.3	tolerated(0.09)		8/11		hmmpanther:PTHR31191:SF4,hmmpanther:PTHR31191,Pfam_domain:PF15352																	MODERATE	1	SNV	1			1										PASS		rs766595119	.												A	3	1	67	101981943	101981943	G	A	1	0	0	0	0	1	0	0	0	2957	1232	43	3		3	CEP126	11	101981943	Missense_Mutation	SNP	G	C3N-01016_TP	9091311	101981943	33104679	253	21822											
CACNA1C	0	.	GRCh38	chr12	2593318	2593318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgccagaagccagcgCgtttttcatcttcagctcta	8	11	8	14	2	4	1	2	0	2	1	4	1	4	1	3	0	4	2	3	0	2	4	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.2636C>A	p.Ala879Glu	p.A879E	ENST00000347598	19/49	127	100	27	213	213	0	strelka-varscan-mutect	CACNA1C,missense_variant,p.Ala879Glu,ENST00000399655,NM_000719.6;CACNA1C,missense_variant,p.Ala879Glu,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Ala879Glu,ENST00000406454,;CACNA1C,missense_variant,p.Ala879Glu,ENST00000399617,NM_001167624.2;CACNA1C,missense_variant,p.Ala879Glu,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Ala904Glu,ENST00000335762,;CACNA1C,missense_variant,p.Ala879Glu,ENST00000480911,;CACNA1C,missense_variant,p.Ala879Glu,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,missense_variant,p.Ala879Glu,ENST00000344100,NM_001129829.1;CACNA1C,missense_variant,p.Ala879Glu,ENST00000327702,NM_001129830.2;CACNA1C,missense_variant,p.Ala879Glu,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Ala879Glu,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Ala879Glu,ENST00000399621,NM_001129834.1;CACNA1C,missense_variant,p.Ala879Glu,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Ala879Glu,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Ala879Glu,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Ala879Glu,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,missense_variant,p.Ala879Glu,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Ala879Glu,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Ala879Glu,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,missense_variant,p.Ala879Glu,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Ala879Glu,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Ala879Glu,ENST00000399644,NM_001129841.1;CACNA1C,missense_variant,p.Ala158Glu,ENST00000465278,;	A	ENST00000347598	Transcript	missense_variant	2636/6655	2636/6561	879/2186	A/E	gCg/gAg		1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3	deleterious(0)		19/49		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188																	MODERATE	1	SNV	1			1										PASS		rs1199713333	.												A	3	1	67	2593318	2593318	C	A	1	0	0	0	0	1	0	0	0	2228	768	27	1		1	CACNA1C	12	2593318	Missense_Mutation	SNP	C	C3N-01016_TP		2593318	130681991	254	21823											
CACNA1C	0	.	GRCh38	chr12	2690921	2690921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttgatttcagaaggactgGggcagtttgctcaagatccc	9	12	11	9	0	3	3	2	1	1	2	4	4	4	4	1	3	1	3	1	3	2	3			C3N-01016_TP	C3N-01016_NB	G	G																c.6283G>T	p.Gly2095Trp	p.G2095W	ENST00000347598	49/49	53	35	18	64	64	0	strelka-varscan-mutect	CACNA1C,missense_variant,p.Gly2047Trp,ENST00000399655,NM_000719.6;CACNA1C,missense_variant,p.Gly2118Trp,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Gly2118Trp,ENST00000406454,;CACNA1C,missense_variant,p.Gly2082Trp,ENST00000399617,NM_001167624.2;CACNA1C,missense_variant,p.Gly2047Trp,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Gly2072Trp,ENST00000335762,;CACNA1C,missense_variant,p.Gly2095Trp,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,missense_variant,p.Gly2088Trp,ENST00000344100,NM_001129829.1;CACNA1C,missense_variant,p.Gly2082Trp,ENST00000327702,NM_001129830.2;CACNA1C,missense_variant,p.Gly2075Trp,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Gly2067Trp,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Gly2066Trp,ENST00000399621,NM_001129834.1;CACNA1C,missense_variant,p.Gly2066Trp,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Gly2066Trp,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Gly2064Trp,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Gly2055Trp,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,missense_variant,p.Gly2055Trp,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Gly2053Trp,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Gly2047Trp,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,missense_variant,p.Gly2047Trp,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Gly2047Trp,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Gly2047Trp,ENST00000399644,NM_001129841.1;CACNA1C,missense_variant,p.Gly738Trp,ENST00000616390,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000501371,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000544517,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000541673,;RP11-885B4.1,downstream_gene_variant,,ENST00000636122,;	T	ENST00000347598	Transcript	missense_variant	6283/6655	6283/6561	2095/2186	G/W	Ggg/Tgg	COSM5157884,COSM5157885,COSM5157886,COSM5157887,COSM5157888,COSM5157889	1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3	deleterious_low_confidence(0)		49/49		Pfam_domain:PF16885											1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1	1										PASS		.	.												T	3	4	67	2690921	2690921	G	T	1	0	0	0	0	1	0	0	0	2228	1232	43	2		2	CACNA1C	12	2690921	Missense_Mutation	SNP	G	C3N-01016_TP	97603	2690921	130584388	255	21824											
ATN1	0	.	GRCh38	chr12	6936776	6936776	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaTcacggaaactctgggccccc	11	3	11	16	1	2	0	1	0	1	0	2	1	2	1	2	2	7	6	2	2	1	0	rs146578563		C3N-01016_TP	C3N-01016_NB	T	T																c.1509T>G	p.His503Gln	p.H503Q	ENST00000356654	5/10	310	294	16	254	249	5	varscan-mutect	ATN1,missense_variant,p.His503Gln,ENST00000356654,NM_001007026.1;ATN1,missense_variant,p.His503Gln,ENST00000396684,NM_001940.3;ATN1,upstream_gene_variant,,ENST00000537488,;ATN1,upstream_gene_variant,,ENST00000541029,;	G	ENST00000356654	Transcript	missense_variant	1746/4351	1509/3573	503/1190	H/Q	caT/caG	rs146578563	1		1	ATN1	HGNC	HGNC:3033	protein_coding	YES	CCDS31734.1	ENSP00000349076	P54259		UPI000006F554	NM_001007026.1	tolerated_low_confidence(0.25)		5/10		Pfam_domain:PF03154,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF9,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs146578563	.												G	3	3	67	6936776	6936776	T	G	1	0	0	0	0	1	0	0	0	1263	1432	50	5		5	ATN1	12	6936776	Missense_Mutation	SNP	T	C3N-01016_TP	4245855	6936776	126338533	256	21825											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3N-01016_TP	C3N-01016_NB	C	C																c.34G>A	p.Gly12Ser	p.G12S	ENST00000256078	2/6	461	280	181	313	313	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Ser,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Ser,ENST00000556131,;KRAS,missense_variant,p.Gly12Ser,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Ser,ENST00000557334,;	T	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/S	Ggt/Agt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.03)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												T	3	4	67	25245351	25245351	C	T	1	0	0	0	0	1	0	0	0	8318	594	21	3		3	KRAS	12	25245351	Missense_Mutation	SNP	C	C3N-01016_TP	18308575	25245351	108029958	257	21826											
CCDC91	0	.	GRCh38	chr12	28306853	28306853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattctgaggatcctggaGccaatgtatctaacatacag	13	11	9	8	0	2	2	0	2	2	0	3	4	3	4	2	2	3	1	2	2	4	4	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.379G>T	p.Ala127Ser	p.A127S	ENST00000545336	8/16	310	285	25	169	169	0	strelka-varscan-mutect	CCDC91,missense_variant,p.Ala127Ser,ENST00000545336,;CCDC91,missense_variant,p.Ala127Ser,ENST00000539107,;CCDC91,missense_variant,p.Ala127Ser,ENST00000381259,NM_018318.3;CCDC91,intron_variant,,ENST00000536154,;CCDC91,intron_variant,,ENST00000540794,;CCDC91,downstream_gene_variant,,ENST00000543534,;CCDC91,downstream_gene_variant,,ENST00000538586,;CCDC91,non_coding_transcript_exon_variant,,ENST00000540401,;CCDC91,non_coding_transcript_exon_variant,,ENST00000539904,;CCDC91,non_coding_transcript_exon_variant,,ENST00000544649,;CCDC91,missense_variant,p.Ala127Ser,ENST00000543809,;CCDC91,missense_variant,p.Ala127Ser,ENST00000545737,;CCDC91,missense_variant,p.Ala127Ser,ENST00000536442,;CCDC91,3_prime_UTR_variant,,ENST00000535520,;	T	ENST00000545336	Transcript	missense_variant	798/2738	379/1326	127/441	A/S	Gcc/Tcc		1		1	CCDC91	HGNC	HGNC:24855	protein_coding	YES	CCDS8716.1	ENSP00000438040	Q7Z6B0	A0A024RAW6	UPI00001AEE23		tolerated(0.19)		8/16		hmmpanther:PTHR35072																	MODERATE	1	SNV	5			1										PASS		rs1396625177	.												T	3	4	67	28306853	28306853	G	T	1	0	0	0	0	1	0	0	0	2568	971	34	2		2	CCDC91	12	28306853	Missense_Mutation	SNP	G	C3N-01016_TP	3061502	28306853	104968456	258	21827											
PRPH	0	.	GRCh38	chr12	49295660	49295660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgcgcgagctgcggcgaGagctggagctgttgggccgc	5	6	19	11	5	0	1	0	0	0	1	0	4	0	2	1	3	6	5	1	3	0	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.460G>A	p.Glu154Lys	p.E154K	ENST00000257860	1/9	175	155	20	119	119	0	strelka-varscan-mutect	PRPH,missense_variant,p.Glu154Lys,ENST00000257860,NM_006262.3;PRPH,missense_variant,p.Glu41Lys,ENST00000451891,;PRPH,upstream_gene_variant,,ENST00000532332,;RP11-161H23.9,non_coding_transcript_exon_variant,,ENST00000553259,;PRPH,downstream_gene_variant,,ENST00000551194,;PRPH,upstream_gene_variant,,ENST00000533401,;PRPH,upstream_gene_variant,,ENST00000530631,;PRPH,upstream_gene_variant,,ENST00000537252,;	A	ENST00000257860	Transcript	missense_variant	1959/3245	460/1413	154/470	E/K	Gag/Aag		1		1	PRPH	HGNC	HGNC:9461	protein_coding	YES	CCDS8783.1	ENSP00000257860	P41219		UPI000013CF92	NM_006262.3	deleterious(0.03)		1/9		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF29,Low_complexity_(Seg):seg,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	49295660	49295660	G	A	1	0	0	0	0	1	0	0	0	12712	943	33	3		3	PRPH	12	49295660	Missense_Mutation	SNP	G	C3N-01016_TP	20988807	49295660	83979649	259	21828											
SCN8A	0	.	GRCh38	chr12	51721672	51721672	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagttcgcggatgacgagCacagcacggtggaggagagc	11	5	17	8	4	0	3	0	2	0	1	1	7	0	5	0	4	3	3	0	4	0	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1762C>G	p.His588Asp	p.H588D	ENST00000354534	12/27	310	237	73	319	319	0	strelka-varscan-mutect	SCN8A,missense_variant,p.His588Asp,ENST00000354534,NM_014191.3;SCN8A,missense_variant,p.His588Asp,ENST00000545061,NM_001177984.2;SCN8A,missense_variant,p.His588Asp,ENST00000599343,;SCN8A,missense_variant,p.His588Asp,ENST00000627620,;SCN8A,missense_variant,p.His588Asp,ENST00000355133,;SCN8A,missense_variant,p.His438Asp,ENST00000551216,;SCN8A,3_prime_UTR_variant,,ENST00000637709,;SCN8A,non_coding_transcript_exon_variant,,ENST00000550891,;	G	ENST00000354534	Transcript	missense_variant	1940/11556	1762/5943	588/1980	H/D	Cac/Gac		1		1	SCN8A	HGNC	HGNC:10596	protein_coding	YES	CCDS44891.1	ENSP00000346534	Q9UQD0		UPI000006FD85	NM_014191.3	deleterious(0.02)		12/27		hmmpanther:PTHR10037:SF23,hmmpanther:PTHR10037,Pfam_domain:PF11933																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	67	51721672	51721672	C	G	1	0	0	0	0	1	0	0	0	14193	710	25	4		4	SCN8A	12	51721672	Missense_Mutation	SNP	C	C3N-01016_TP	2426012	51721672	81553637	260	21829											
ANKRD52	0	.	GRCh38	chr12	56254189	56254189	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctggttgacattggctcCggcattcaccagctcaatag	8	10	11	12	2	2	1	2	1	0	0	3	1	3	1	2	4	1	5	2	4	2	4			C3N-01016_TP	C3N-01016_NB	C	C																c.784G>T	p.Gly262Ter	p.G262*	ENST00000267116	8/28	485	420	65	387	387	0	strelka-varscan-mutect	ANKRD52,stop_gained,p.Gly262Ter,ENST00000267116,NM_173595.3;ANKRD52,downstream_gene_variant,,ENST00000551023,;ANKRD52,non_coding_transcript_exon_variant,,ENST00000548081,;	A	ENST00000267116	Transcript	stop_gained	906/8688	784/3231	262/1076	G/*	Gga/Tga	COSM1245072	1		-1	ANKRD52	HGNC	HGNC:26614	protein_coding	YES	CCDS44920.1	ENSP00000267116	Q8NB46		UPI0000237861	NM_173595.3			8/28		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24158:SF17,hmmpanther:PTHR24158,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	67	56254189	56254189	C	A	1	0	0	0	0	0	1	0	0	782	661	23	1		1	ANKRD52	12	56254189	Nonsense_Mutation	SNP	C	C3N-01016_TP	4532517	56254189	77021120	261	21830											
RAB21	0	.	GRCh38	chr12	71755196	71755196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcctactcgttcaaggtgGtgctgctgggggaaggctgc	6	9	17	9	1	1	0	1	0	0	0	2	2	1	1	1	5	5	4	1	5	3	2	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.67G>T	p.Val23Leu	p.V23L	ENST00000261263	1/7	158	114	44	158	158	0	strelka-varscan-mutect	RAB21,missense_variant,p.Val23Leu,ENST00000261263,NM_014999.2;	T	ENST00000261263	Transcript	missense_variant	323/15546	67/678	23/225	V/L	Gtg/Ttg		1		1	RAB21	HGNC	HGNC:18263	protein_coding	YES	CCDS9003.1	ENSP00000261263	Q9UL25	A0A024RBA9	UPI000013315D	NM_014999.2	deleterious(0.02)		1/7		PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF509,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	71755196	71755196	G	T	1	0	0	0	0	1	0	0	0	13066	1261	44	2		2	RAB21	12	71755196	Missense_Mutation	SNP	G	C3N-01016_TP	15501007	71755196	61520113	262	21831											
PTPRQ	0	.	GRCh38	chr12	80673271	80673271	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatggactagtagctgaactGagaagtgaaagaatgtgcat	15	10	12	4	0	0	4	0	3	0	2	0	6	0	5	0	1	3	3	0	1	7	3	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.6705G>C	p.=	p.L2235L	ENST00000614701	43/45	236	174	62	136	136	0	strelka-varscan-mutect	PTPRQ,synonymous_variant,p.=,ENST00000614701,NM_001145026.1;PTPRQ,synonymous_variant,p.=,ENST00000616559,;	C	ENST00000614701	Transcript	synonymous_variant	6883/8289	6705/6900	2235/2299	L	ctG/ctC		1		1	PTPRQ	HGNC	HGNC:9679	protein_coding	YES	CCDS73501.1	ENSP00000482885		A0A087WZU1	UPI000192953C	NM_001145026.1			43/45		Gene3D:3.90.190.10,Pfam_domain:PF00102,Prints_domain:PR00700,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	67	80673271	80673271	G	C	1	0	0	0	0	0	0	0	1	12964	1277	45	4		4	PTPRQ	12	80673271	Silent	SNP	G	C3N-01016_TP	8918075	80673271	52602038	263	21832											
PPFIA2	0	.	GRCh38	chr12	81341184	81341184	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgttgctttgtcctctcGaccatcttcttccacaactg	7	16	5	13	1	3	0	0	0	3	0	6	1	5	0	3	0	2	2	3	0	2	5	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.2287C>A	p.=	p.R763R	ENST00000549396	20/33	160	139	21	119	119	0	strelka-varscan-mutect	PPFIA2,synonymous_variant,p.=,ENST00000333447,NM_001220478.2;PPFIA2,synonymous_variant,p.=,ENST00000550584,NM_001220473.2;PPFIA2,synonymous_variant,p.=,ENST00000549396,NM_003625.4;PPFIA2,synonymous_variant,p.=,ENST00000549325,NM_001220474.2;PPFIA2,synonymous_variant,p.=,ENST00000548586,NM_001220476.2;PPFIA2,synonymous_variant,p.=,ENST00000552948,NM_001220475.2;PPFIA2,synonymous_variant,p.=,ENST00000407050,NM_001220477.2;PPFIA2,synonymous_variant,p.=,ENST00000550359,NM_001282536.1;PPFIA2,synonymous_variant,p.=,ENST00000443686,;PPFIA2,synonymous_variant,p.=,ENST00000541570,NM_001220479.2;PPFIA2,5_prime_UTR_variant,,ENST00000541017,NM_001220480.2;PPFIA2,upstream_gene_variant,,ENST00000551147,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000549917,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,3_prime_UTR_variant,,ENST00000551461,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000549344,;	T	ENST00000549396	Transcript	synonymous_variant	2448/5363	2287/3774	763/1257	R	Cga/Aga		1		-1	PPFIA2	HGNC	HGNC:9246	protein_coding	YES	CCDS55857.1	ENSP00000450337	O75334		UPI0000168655	NM_003625.4			20/33		hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587																	LOW	1	SNV	1			1										PASS		rs945544638	.												T	2	4	67	81341184	81341184	G	T	1	0	0	0	0	0	0	0	1	12419	1066	37	1		1	PPFIA2	12	81341184	Silent	SNP	G	C3N-01016_TP	667913	81341184	51934125	264	21833											
BTBD11	0	.	GRCh38	chr12	107543958	107543958	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggtgtcccgtgcaatgCatcacctgcagcccctcaat	8	9	8	16	1	2	0	2	0	0	0	3	0	3	0	5	1	4	3	5	1	2	0	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1309C>G	p.His437Asp	p.H437D	ENST00000280758	3/17	162	117	45	121	121	0	strelka-varscan-mutect	BTBD11,missense_variant,p.His437Asp,ENST00000280758,NM_001018072.1;BTBD11,missense_variant,p.His437Asp,ENST00000490090,;BTBD11,missense_variant,p.His437Asp,ENST00000420571,;BTBD11,missense_variant,p.His71Asp,ENST00000415943,;BTBD11,missense_variant,p.His68Asp,ENST00000550706,;	G	ENST00000280758	Transcript	missense_variant	1837/5767	1309/3315	437/1104	H/D	Cat/Gat		1		1	BTBD11	HGNC	HGNC:23844	protein_coding	YES	CCDS31893.1	ENSP00000280758	A6QL63		UPI000051901E	NM_001018072.1	deleterious(0)		3/17																			MODERATE	1	SNV	5			1										PASS		rs1432004253	.												G	3	3	67	107543958	107543958	C	G	1	0	0	0	0	1	0	0	0	1714	710	25	4		4	BTBD11	12	107543958	Missense_Mutation	SNP	C	C3N-01016_TP	26202774	107543958	25731351	265	21834											
SDSL	0	.	GRCh38	chr12	113438067	113438067	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctttgaaaacccacctGggccaggtctgaggggtccc	8	7	13	13	0	1	2	0	2	1	0	2	2	2	2	4	5	1	1	4	5	2	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.978G>T	p.=	p.L326L	ENST00000403593	8/8	91	54	37	81	81	0	strelka-varscan-mutect	SDSL,synonymous_variant,p.=,ENST00000403593,NM_001304993.1;SDSL,synonymous_variant,p.=,ENST00000345635,NM_138432.3;SDSL,synonymous_variant,p.=,ENST00000546672,;SDSL,downstream_gene_variant,,ENST00000553248,;SDSL,downstream_gene_variant,,ENST00000551760,;	T	ENST00000403593	Transcript	synonymous_variant	1240/1449	978/990	326/329	L	ctG/ctT		1		1	SDSL	HGNC	HGNC:30404	protein_coding	YES	CCDS9170.1	ENSP00000385790	Q96GA7	A0A024RBL2	UPI0000072263	NM_001304993.1			8/8		hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF99																	LOW	1	SNV	1			1										PASS		rs959821103	.												T	2	4	67	113438067	113438067	G	T	1	0	0	0	0	0	0	0	1	14252	1335	47	2		2	SDSL	12	113438067	Silent	SNP	G	C3N-01016_TP	5894109	113438067	19837242	266	21835											
NOS1	0	.	GRCh38	chr12	117286149	117286149	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccacacagcgcgaggcattCcgccaggcgtgcttggcccc	6	5	12	18	4	0	0	0	0	0	0	1	1	1	0	5	3	2	2	5	3	0	2			C3N-01016_TP	C3N-01016_NB	C	C																c.1245G>T	p.=	p.R415R	ENST00000618760	6/30	237	160	77	214	213	1	strelka-varscan-mutect	NOS1,synonymous_variant,p.=,ENST00000618760,NM_001204218.1;NOS1,synonymous_variant,p.=,ENST00000317775,NM_001204214.1,NM_000620.4,NM_001204213.1;NOS1,synonymous_variant,p.=,ENST00000338101,;NOS1,synonymous_variant,p.=,ENST00000344089,;	A	ENST00000618760	Transcript	synonymous_variant	1956/12283	1245/4407	415/1468	R	cgG/cgT	COSM4523978	1		-1	NOS1	HGNC	HGNC:7872	protein_coding	YES	CCDS55890.1	ENSP00000477999	P29475		UPI00001FBC10	NM_001204218.1			6/30		Pfam_domain:PF02898,Gene3D:3.90.340.10,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512											1						LOW	1	SNV	5		1	1										PASS		.	.												A	2	1	67	117286149	117286149	C	A	1	0	0	0	0	0	0	0	1	10586	842	30	2		2	NOS1	12	117286149	Silent	SNP	C	C3N-01016_TP	3848082	117286149	15989160	267	21836											
SETD1B	0	.	GRCh38	chr12	121827607	121827607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgctgtcctccttcaCtggcagctgtgacagtgacc	5	10	10	16	1	1	2	1	2	0	0	3	2	3	2	5	1	2	3	5	1	0	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.5297C>T	p.Thr1766Ile	p.T1766I	ENST00000542440	15/18	178	132	46	158	158	0	strelka-varscan-mutect	SETD1B,missense_variant,p.Thr1766Ile,ENST00000542440,NM_015048.1;SETD1B,missense_variant,p.Thr1809Ile,ENST00000604567,;SETD1B,missense_variant,p.Thr1809Ile,ENST00000619791,;SETD1B,missense_variant,p.Thr1766Ile,ENST00000267197,;	T	ENST00000542440	Transcript	missense_variant	5365/8185	5297/5772	1766/1923	T/I	aCt/aTt		1		1	SETD1B	HGNC	HGNC:29187	protein_coding	YES	CCDS53838.1	ENSP00000442924	Q9UPS6		UPI00006C12ED	NM_015048.1	tolerated(0.05)		15/18		Pfam_domain:PF11764,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF296,SMART_domains:SM01291																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	67	121827607	121827607	C	T	1	0	0	0	0	1	0	0	0	14408	565	20	3		3	SETD1B	12	121827607	Missense_Mutation	SNP	C	C3N-01016_TP	4541458	121827607	11447702	268	21837											
RIMBP2	0	.	GRCh38	chr12	130451218	130451218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgactcagatctgcatcttgCgctaccggatctcgacagga	9	10	10	12	3	4	2	1	1	3	1	5	5	4	4	1	2	3	2	1	2	1	2	rs370254266		C3N-01016_TP	C3N-01016_NB	C	C																c.430G>A	p.Ala144Thr	p.A144T	ENST00000261655	5/19	142	126	16	148	148	0	strelka-varscan-mutect	RIMBP2,missense_variant,p.Ala144Thr,ENST00000261655,NM_015347.4;RIMBP2,missense_variant,p.Ala52Thr,ENST00000535703,;	T	ENST00000261655	Transcript	missense_variant	594/6321	430/3159	144/1052	A/T	Gca/Aca	rs370254266,COSM1360103	1		-1	RIMBP2	HGNC	HGNC:30339	protein_coding	YES	CCDS31925.1	ENSP00000261655	O15034		UPI00001C1F42	NM_015347.4	tolerated(0.22)		5/19		hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs370254266	.												T	3	4	67	130451218	130451218	C	T	1	0	0	0	0	1	0	0	0	13538	768	27	1		1	RIMBP2	12	130451218	Missense_Mutation	SNP	C	C3N-01016_TP	8623611	130451218	2824091	269	21838											
SGCG	0	.	GRCh38	chr13	23279388	23279388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtagaagtccagaatcaaCagtttcagatcaactccaac	15	9	7	10	0	3	3	3	0	0	3	5	3	5	3	2	1	3	2	2	1	6	2	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.415C>A	p.Gln139Lys	p.Q139K	ENST00000218867	5/8	395	232	163	370	370	0	strelka-varscan-mutect	SGCG,missense_variant,p.Gln139Lys,ENST00000218867,NM_000231.2;	A	ENST00000218867	Transcript	missense_variant	539/1624	415/876	139/291	Q/K	Cag/Aag		1		1	SGCG	HGNC	HGNC:10809	protein_coding	YES	CCDS9299.1	ENSP00000218867	Q13326		UPI000013C76D	NM_000231.2	tolerated(0.78)		5/8		hmmpanther:PTHR12939,hmmpanther:PTHR12939:SF4,Pfam_domain:PF04790																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	23279388	23279388	C	A	1	0	0	0	0	1	0	0	0	14463	479	17	2		2	SGCG	13	23279388	Missense_Mutation	SNP	C	C3N-01016_TP		23279388	91084940	270	21839											
NBEA	0	.	GRCh38	chr13	35550526	35550526	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaatggatgttcagcgagaTacgagctgtattttcaagac	14	11	10	6	2	2	2	2	0	0	2	2	5	2	3	0	1	3	3	0	1	5	5	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.6635T>A	p.Ile2212Lys	p.I2212K	ENST00000400445	42/58	159	95	64	167	167	0	strelka-varscan-mutect	NBEA,missense_variant,p.Ile2212Lys,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Ile2213Lys,ENST00000310336,;NBEA,missense_variant,p.Ile2212Lys,ENST00000629018,;NBEA,missense_variant,p.Ile2209Lys,ENST00000379939,;NBEA,missense_variant,p.Ile5Lys,ENST00000537702,NM_001204197.1;	A	ENST00000400445	Transcript	missense_variant	7169/11119	6635/8841	2212/2946	I/K	aTa/aAa		1		1	NBEA	HGNC	HGNC:7648	protein_coding	YES	CCDS45026.1	ENSP00000383295	Q8NFP9		UPI00004FF92F	NM_015678.4	deleterious(0)		42/58		Gene3D:1t77A01,Pfam_domain:PF14844,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF62,Superfamily_domains:SSF50729																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	67	35550526	35550526	T	A	1	0	0	0	0	1	0	0	0	10198	1406	49	4		4	NBEA	13	35550526	Missense_Mutation	SNP	T	C3N-01016_TP	12271138	35550526	78813802	271	21840											
CSNK1A1L	0	.	GRCh38	chr13	37104443	37104443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcagatacatgtaatctgGgacttcctcaaagcgcagcc	11	9	8	13	1	3	1	2	0	1	1	4	2	4	2	3	1	3	2	3	1	3	3	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.814C>A	p.Pro272Thr	p.P272T	ENST00000379800	1/1	368	208	160	336	333	3	strelka-varscan-mutect	CSNK1A1L,missense_variant,p.Pro272Thr,ENST00000379800,NM_145203.5;	T	ENST00000379800	Transcript	missense_variant	1222/2406	814/1014	272/337	P/T	Cca/Aca		1		-1	CSNK1A1L	HGNC	HGNC:20289	protein_coding	YES	CCDS9363.1	ENSP00000369126	Q8N752		UPI000003C95C	NM_145203.5	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50011,hmmpanther:PTHR11909:SF139,hmmpanther:PTHR11909,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	67	37104443	37104443	G	T	1	0	0	0	0	1	0	0	0	3751	1232	43	2		2	CSNK1A1L	13	37104443	Missense_Mutation	SNP	G	C3N-01016_TP	1553917	37104443	77259885	272	21841											
PCDH17	0	.	GRCh38	chr13	57666785	57666785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgacatgtctgttagggagGcactcaagatgaaaactact	13	10	11	7	0	2	3	1	2	1	1	2	4	2	4	0	2	2	2	0	2	5	2	rs572132103		C3N-01016_TP	C3N-01016_NB	G	G																c.2749G>T	p.Ala917Ser	p.A917S	ENST00000377918	3/4	99	50	49	69	69	0	strelka-varscan-mutect	PCDH17,missense_variant,p.Ala917Ser,ENST00000377918,NM_001040429.2;PCDH17,missense_variant,p.Ala304Ser,ENST00000612954,;PCDH17,missense_variant,p.Ala95Ser,ENST00000615375,;PCDH17,3_prime_UTR_variant,,ENST00000484979,;	T	ENST00000377918	Transcript	missense_variant	3484/8232	2749/3480	917/1159	A/S	Gca/Tca	rs572132103	1		1	PCDH17	HGNC	HGNC:14267	protein_coding	YES	CCDS31986.1	ENSP00000367151	O14917		UPI00001FCE5B	NM_001040429.2	tolerated(0.07)		3/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41																	MODERATE	1	SNV	1			1										PASS		rs572132103	.												T	3	4	67	57666785	57666785	G	T	1	0	0	0	0	1	0	0	0	11599	1203	42	2		2	PCDH17	13	57666785	Missense_Mutation	SNP	G	C3N-01016_TP	20562342	57666785	56697543	273	21842											
COL4A2	0	.	GRCh38	chr13	110457353	110457353	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctctaggcttcctgttTgggctgaaaggagcaaaagg	9	11	13	8	0	2	1	0	1	2	0	4	2	3	2	1	4	1	4	1	4	4	3	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.1350T>C	p.=	p.F450F	ENST00000360467	21/48	457	255	202	560	560	0	strelka-varscan-mutect	COL4A2,synonymous_variant,p.=,ENST00000360467,NM_001846.2;COL4A2,upstream_gene_variant,,ENST00000617564,;COL4A2-AS2,non_coding_transcript_exon_variant,,ENST00000458403,;COL4A2,upstream_gene_variant,,ENST00000478681,;	C	ENST00000360467	Transcript	synonymous_variant	1656/6281	1350/5139	450/1712	F	ttT/ttC		1		1	COL4A2	HGNC	HGNC:2203	protein_coding	YES	CCDS41907.1	ENSP00000353654	P08572	A0A024RDW8	UPI000041C713	NM_001846.2			21/48		Low_complexity_(Seg):seg,Pfam_domain:PF01391																	LOW		SNV	5			1										PASS		.	.												C	2	2	67	110457353	110457353	T	C	1	0	0	0	0	0	0	0	1	3479	1809	63	5		5	COL4A2	13	110457353	Silent	SNP	T	C3N-01016_TP	52790568	110457353	3906975	274	21843											
OR11H6	0	.	GRCh38	chr14	20224259	20224259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattgttcttatctcccaaCttcccttctgtgggcccaac	6	15	5	15	0	3	0	0	0	3	0	5	0	4	0	3	1	2	1	3	1	4	6			C3N-01016_TP	C3N-01016_NB	C	C																c.550C>A	p.Leu184Ile	p.L184I	ENST00000315519	1/1	231	201	30	218	218	0	strelka-varscan-mutect	OR11H6,missense_variant,p.Leu184Ile,ENST00000315519,NM_001004480.1;	A	ENST00000315519	Transcript	missense_variant	628/1174	550/993	184/330	L/I	Ctt/Att	COSM2152869	1		1	OR11H6	HGNC	HGNC:15349	protein_coding	YES	CCDS32033.1	ENSP00000319071	Q8NGC7	A0A126GVP4	UPI000004B1F1	NM_001004480.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF90,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		rs946398048	.												A	3	1	67	20224259	20224259	C	A	1	0	0	0	0	1	0	0	0	11006	565	20	2		2	OR11H6	14	20224259	Missense_Mutation	SNP	C	C3N-01016_TP		20224259	86819459	275	21844											
TEP1	0	.	GRCh38	chr14	20408389	20408389	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagccaggcaccggttctcCaaggagaggatgtctggatg	10	8	14	9	1	2	1	0	0	2	1	3	4	2	3	3	5	1	2	3	5	2	2	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.51G>T	p.Leu17Phe	p.L17F	ENST00000262715	2/55	167	134	33	160	160	0	strelka-varscan-mutect	TEP1,missense_variant,p.Leu17Phe,ENST00000262715,NM_007110.4;TEP1,missense_variant,p.Leu17Phe,ENST00000556935,;TEP1,missense_variant,p.Leu17Phe,ENST00000556549,;TEP1,missense_variant,p.Leu17Phe,ENST00000555727,;TEP1,upstream_gene_variant,,ENST00000557627,;	A	ENST00000262715	Transcript	missense_variant	92/10695	51/7884	17/2627	L/F	ttG/ttT		1		-1	TEP1	HGNC	HGNC:11726	protein_coding	YES	CCDS9548.1	ENSP00000262715	Q99973		UPI000013D30B	NM_007110.4	deleterious_low_confidence(0.01)		2/55		PROSITE_profiles:PS51226,Pfam_domain:PF05386																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	20408389	20408389	C	A	1	0	0	0	0	1	0	0	0	16175	593	21	2		2	TEP1	14	20408389	Missense_Mutation	SNP	C	C3N-01016_TP	184130	20408389	86635329	276	21845											
CHMP4A	0	.	GRCh38	chr14	24210467	24210467	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccagctcctctagcTcctccagcagttcatcctgg	5	11	7	18	0	2	0	1	0	1	0	7	0	7	0	6	1	4	5	6	1	1	2	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.491A>T	p.Glu164Val	p.E164V	ENST00000530611	5/10	181	97	84	143	143	0	strelka-varscan-mutect	RP11-468E2.1,missense_variant,p.Glu164Val,ENST00000530611,;CHMP4A,missense_variant,p.Glu207Val,ENST00000347519,NM_014169.3;CHMP4A,missense_variant,p.Glu59Val,ENST00000530996,;CHMP4A,missense_variant,p.Glu164Val,ENST00000609024,;CHMP4A,missense_variant,p.Glu174Val,ENST00000533011,;TSSK4,downstream_gene_variant,,ENST00000339917,NM_001184739.1;TSSK4,downstream_gene_variant,,ENST00000287913,NM_174944.3;TSSK4,downstream_gene_variant,,ENST00000556621,NM_001308067.1;MDP1,downstream_gene_variant,,ENST00000288087,NM_001199822.1,NM_138476.3;TSSK4,downstream_gene_variant,,ENST00000553766,;TSSK4,downstream_gene_variant,,ENST00000555092,;NEDD8-MDP1,downstream_gene_variant,,ENST00000534348,NM_001199823.1;MDP1,downstream_gene_variant,,ENST00000396833,NM_001199821.1;TSSK4,downstream_gene_variant,,ENST00000428351,;CHMP4A,non_coding_transcript_exon_variant,,ENST00000542700,;NEDD8-MDP1,downstream_gene_variant,,ENST00000604306,;CHMP4A,downstream_gene_variant,,ENST00000531158,;MDP1,downstream_gene_variant,,ENST00000532557,;MDP1,downstream_gene_variant,,ENST00000525696,;CHMP4A,3_prime_UTR_variant,,ENST00000533523,;AL136419.6,non_coding_transcript_exon_variant,,ENST00000565988,;CHMP4A,non_coding_transcript_exon_variant,,ENST00000524955,;AL136419.6,downstream_gene_variant,,ENST00000528804,;TSSK4,downstream_gene_variant,,ENST00000554420,;MDP1,downstream_gene_variant,,ENST00000530222,;NEDD8-MDP1,downstream_gene_variant,,ENST00000605847,;MDP1,downstream_gene_variant,,ENST00000466422,;CHMP4A,downstream_gene_variant,,ENST00000552620,;MDP1,downstream_gene_variant,,ENST00000532742,;MDP1,downstream_gene_variant,,ENST00000533536,;CHMP4A,downstream_gene_variant,,ENST00000527154,;MDP1,downstream_gene_variant,,ENST00000528849,;MDP1,downstream_gene_variant,,ENST00000531553,;NEDD8-MDP1,downstream_gene_variant,,ENST00000530579,;CHMP4A,downstream_gene_variant,,ENST00000534106,;	A	ENST00000530611	Transcript	missense_variant	525/2740	491/2448	164/815	E/V	gAg/gTg		1		-1	RP11-468E2.1	Clone_based_vega_gene		protein_coding	YES		ENSP00000433967		E9PSI1	UPI0001F77BE7		deleterious_low_confidence(0)		5/10		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03357																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	67	24210467	24210467	T	A	1	0	0	0	0	1	0	0	0	3116	1551	54	4		4	CHMP4A	14	24210467	Missense_Mutation	SNP	T	C3N-01016_TP	3802078	24210467	82833251	277	21846											
NFATC4	0	.	GRCh38	chr14	24370257	24370257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccccagctctgtcccgcCgtggcagcctgggggaagag	5	6	14	16	2	1	1	0	0	1	1	3	2	3	2	6	3	2	2	6	3	1	0	rs755808600		C3N-01016_TP	C3N-01016_NB	C	C																c.1048C>T	p.Arg350Cys	p.R350C	ENST00000413692	3/10	132	68	64	91	91	0	strelka-varscan-mutect	NFATC4,missense_variant,p.Arg350Cys,ENST00000413692,NM_001136022.2;NFATC4,missense_variant,p.Arg319Cys,ENST00000539237,;NFATC4,missense_variant,p.Arg217Cys,ENST00000557451,;NFATC4,missense_variant,p.Arg275Cys,ENST00000422617,NM_001288802.1;NFATC4,missense_variant,p.Arg300Cys,ENST00000424781,;NFATC4,missense_variant,p.Arg287Cys,ENST00000553708,;NFATC4,missense_variant,p.Arg287Cys,ENST00000250373,NM_001320043.1,NM_004554.4;NFATC4,missense_variant,p.Arg275Cys,ENST00000555453,;NFATC4,missense_variant,p.Arg287Cys,ENST00000554050,NM_001198965.1;NFATC4,missense_variant,p.Arg217Cys,ENST00000554344,;NFATC4,missense_variant,p.Arg319Cys,ENST00000556279,;NFATC4,missense_variant,p.Arg350Cys,ENST00000554591,NM_001198967.2;NFATC4,missense_variant,p.Arg300Cys,ENST00000555590,;NFATC4,missense_variant,p.Arg217Cys,ENST00000553879,NM_001198966.2;NFATC4,missense_variant,p.Arg217Cys,ENST00000554661,;NFATC4,missense_variant,p.Arg319Cys,ENST00000553469,;NFATC4,missense_variant,p.Arg275Cys,ENST00000556169,;NFATC4,missense_variant,p.Arg300Cys,ENST00000554966,;NFATC4,intron_variant,,ENST00000554779,;NFATC4,upstream_gene_variant,,ENST00000555167,;NFATC4,upstream_gene_variant,,ENST00000555393,;NFATC4,upstream_gene_variant,,ENST00000556759,;NFATC4,upstream_gene_variant,,ENST00000555802,;NFATC4,upstream_gene_variant,,ENST00000554473,;NFATC4,downstream_gene_variant,,ENST00000557674,;NFATC4,upstream_gene_variant,,ENST00000557767,;NFATC4,downstream_gene_variant,,ENST00000554903,;NFATC4,non_coding_transcript_exon_variant,,ENST00000440487,;NFATC4,non_coding_transcript_exon_variant,,ENST00000554655,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556302,;NFATC4,non_coding_transcript_exon_variant,,ENST00000556957,;NFATC4,intron_variant,,ENST00000557028,;	T	ENST00000413692	Transcript	missense_variant	1192/5700	1048/2895	350/964	R/C	Cgt/Tgt	rs755808600,COSM1140497,COSM5253336,COSM5253337,COSM552879	1		1	NFATC4	HGNC	HGNC:7778	protein_coding	YES	CCDS45089.1	ENSP00000388910	Q14934		UPI00017BD050	NM_001136022.2	deleterious(0)		3/10		Low_complexity_(Seg):seg,hmmpanther:PTHR12533:SF11,hmmpanther:PTHR12533											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs755808600	.												T	3	4	67	24370257	24370257	C	T	1	0	0	0	0	1	0	0	0	10402	652	23	1		1	NFATC4	14	24370257	Missense_Mutation	SNP	C	C3N-01016_TP	159790	24370257	82673461	278	21847											
PRKD1	0	.	GRCh38	chr14	29597689	29597689	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagccaggtaagcgggggTacccaccactgacctccgga	10	4	14	13	2	0	1	0	1	0	0	1	3	1	3	5	5	3	2	5	5	2	2	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.2236A>T	p.Thr746Ser	p.T746S	ENST00000331968	16/18	318	277	41	231	231	0	strelka-varscan-mutect	PRKD1,missense_variant,p.Thr746Ser,ENST00000331968,NM_002742.2;PRKD1,missense_variant,p.Thr746Ser,ENST00000616995,;PRKD1,missense_variant,p.Thr754Ser,ENST00000415220,;PRKD1,upstream_gene_variant,,ENST00000490795,;	A	ENST00000331968	Transcript	missense_variant	2466/3726	2236/2739	746/912	T/S	Acc/Tcc		1		-1	PRKD1	HGNC	HGNC:9407	protein_coding	YES	CCDS9637.1	ENSP00000333568	Q15139		UPI0000456761	NM_002742.2	deleterious(0.02)		16/18		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000552,PROSITE_profiles:PS50011,hmmpanther:PTHR22968,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	29597689	29597689	T	A	1	0	0	0	0	1	0	0	0	12651	1638	57	4		4	PRKD1	14	29597689	Missense_Mutation	SNP	T	C3N-01016_TP	5227432	29597689	77446029	279	21848											
LRFN5	0	.	GRCh38	chr14	41886917	41886917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcatgctttcgctgacCtacgaaatttgagggctttg	8	13	9	11	2	1	2	1	2	0	0	2	3	1	2	2	1	2	3	2	1	2	4	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.292C>A	p.Leu98Ile	p.L98I	ENST00000298119	3/6	372	171	201	190	189	1	strelka-varscan-mutect	LRFN5,missense_variant,p.Leu98Ile,ENST00000554171,;LRFN5,missense_variant,p.Leu98Ile,ENST00000298119,NM_152447.3;LRFN5,missense_variant,p.Leu98Ile,ENST00000554120,;	A	ENST00000298119	Transcript	missense_variant	1481/3723	292/2160	98/719	L/I	Cta/Ata		1		1	LRFN5	HGNC	HGNC:20360	protein_coding	YES	CCDS9678.1	ENSP00000298119	Q96NI6		UPI000000DA1E	NM_152447.3	deleterious(0)		3/6		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,Pfam_domain:PF13306,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	41886917	41886917	C	A	1	0	0	0	0	1	0	0	0	8835	680	24	2		2	LRFN5	14	41886917	Missense_Mutation	SNP	C	C3N-01016_TP	12289228	41886917	65156801	280	21849											
DACT1	0	.	GRCh38	chr14	58646216	58646216	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtctacagctttcccCgtggaagagaggcctgcctt	6	11	11	13	1	1	1	0	0	1	1	2	3	2	2	4	2	4	2	4	2	2	3	rs750523668		C3N-01016_TP	C3N-01016_NB	C	C																c.1593C>A	p.=	p.P531P	ENST00000335867	4/4	280	172	108	249	249	0	strelka-varscan-mutect	DACT1,synonymous_variant,p.=,ENST00000395153,NM_001079520.1;DACT1,synonymous_variant,p.=,ENST00000541264,;DACT1,synonymous_variant,p.=,ENST00000335867,NM_016651.5;DACT1,synonymous_variant,p.=,ENST00000556859,;DACT1,downstream_gene_variant,,ENST00000421793,;DACT1,downstream_gene_variant,,ENST00000555845,;	A	ENST00000335867	Transcript	synonymous_variant	1617/2571	1593/2511	531/836	P	ccC/ccA	rs750523668	1		1	DACT1	HGNC	HGNC:17748	protein_coding	YES	CCDS9736.1	ENSP00000337439	Q9NYF0		UPI000013E4D3	NM_016651.5			4/4		hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF12,Pfam_domain:PF15268																	LOW	1	SNV	2			1										PASS		rs750523668	.												A	2	1	67	58646216	58646216	C	A	1	0	0	0	0	0	0	0	1	4023	639	23	1		1	DACT1	14	58646216	Silent	SNP	C	C3N-01016_TP	16759299	58646216	48397502	281	21850											
SYT16	0	.	GRCh38	chr14	62075288	62075288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtggtccaaagcctcaGgcgccaatccacagagggca	11	5	12	13	1	1	1	1	0	0	1	3	1	3	1	4	3	1	1	4	3	2	0	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.890G>T	p.Arg297Met	p.R297M	ENST00000568344	3/6	301	249	52	316	316	0	strelka-varscan-mutect	SYT16,missense_variant,p.Arg297Met,ENST00000568344,NM_031914.2;SYT16,missense_variant,p.Arg187Met,ENST00000636133,;SYT16,upstream_gene_variant,,ENST00000430451,;RP11-355I22.5,intron_variant,,ENST00000553990,;SYT16,missense_variant,p.Arg297Met,ENST00000555409,;	T	ENST00000568344	Transcript	missense_variant	1087/13978	890/1938	297/645	R/M	aGg/aTg		1		1	SYT16	HGNC	HGNC:23142	protein_coding	YES	CCDS45121.1	ENSP00000478637	Q17RD7		UPI0000EE1AC0	NM_031914.2	tolerated(0.06)		3/6		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF113																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	62075288	62075288	G	T	1	0	0	0	0	1	0	0	0	15866	1000	35	2		2	SYT16	14	62075288	Missense_Mutation	SNP	G	C3N-01016_TP	3429072	62075288	44968430	282	21851											
MAP3K9	0	.	GRCh38	chr14	70733132	70733132	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccacctcgcagcggcggTggtgggcaccgccccgcttg	4	5	16	16	5	0	0	0	0	0	0	1	1	0	0	5	4	2	3	5	4	0	1	rs755568141		C3N-01016_TP	C3N-01016_NB	T	T																c.2279A>G	p.His760Arg	p.H760R	ENST00000555993	12/13	167	102	65	127	127	0	strelka-varscan-mutect	MAP3K9,missense_variant,p.His746Arg,ENST00000554752,NM_001284230.1;MAP3K9,missense_variant,p.His522Arg,ENST00000611979,NM_001284231.1;MAP3K9,missense_variant,p.His760Arg,ENST00000555993,NM_033141.3;MAP3K9,missense_variant,p.His723Arg,ENST00000381250,;MAP3K9,missense_variant,p.His479Arg,ENST00000553414,NM_001284232.1;MAP3K9,missense_variant,p.His474Arg,ENST00000554146,;	C	ENST00000555993	Transcript	missense_variant	2642/4449	2279/3357	760/1118	H/R	cAc/cGc	rs755568141	1		-1	MAP3K9	HGNC	HGNC:6861	protein_coding	YES	CCDS32112.1	ENSP00000451263	P80192		UPI00001D7B5C	NM_033141.3	tolerated(1)		12/13		PIRSF_domain:PIRSF000556																	MODERATE	1	SNV	1			1										PASS		rs755568141	.												C	3	2	67	70733132	70733132	T	C	1	0	0	0	0	1	0	0	0	9181	1696	59	5		5	MAP3K9	14	70733132	Missense_Mutation	SNP	T	C3N-01016_TP	8657844	70733132	36310586	283	21852											
CHGA	0	.	GRCh38	chr14	92924211	92924211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccagtcactgcgctccCtgtgaacagccctatgaata	9	10	7	15	1	1	2	1	2	0	0	3	2	3	2	3	0	3	1	3	0	4	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.59C>A	p.Pro20His	p.P20H	ENST00000216492	2/8	222	183	39	251	251	0	strelka-varscan-mutect	CHGA,missense_variant,p.Pro20His,ENST00000216492,NM_001275.3;CHGA,missense_variant,p.Pro20His,ENST00000334654,NM_001301690.1;CHGA,intron_variant,,ENST00000553866,;CHGA,missense_variant,p.Pro20His,ENST00000556076,;CHGA,upstream_gene_variant,,ENST00000556098,;	A	ENST00000216492	Transcript	missense_variant	339/2063	59/1374	20/457	P/H	cCt/cAt		1		1	CHGA	HGNC	HGNC:1929	protein_coding	YES	CCDS9906.1	ENSP00000216492	P10645		UPI000013C6F3	NM_001275.3	deleterious(0)		2/8		hmmpanther:PTHR10583																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	92924211	92924211	C	A	1	0	0	0	0	1	0	0	0	3097	681	24	2		2	CHGA	14	92924211	Missense_Mutation	SNP	C	C3N-01016_TP	22191079	92924211	14119507	284	21853											
SERPINA12	0	.	GRCh38	chr14	94497787	94497787	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagaaaatataatttgcaAgaagcatcacagtgccgggg	17	7	11	6	1	1	2	1	0	0	2	1	3	1	2	1	2	3	2	1	2	7	3	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.611T>C	p.Leu204Pro	p.L204P	ENST00000341228	3/6	98	62	36	78	78	0	strelka-varscan-mutect	SERPINA12,missense_variant,p.Leu204Pro,ENST00000341228,NM_173850.3;SERPINA12,missense_variant,p.Leu204Pro,ENST00000556881,NM_001304461.1;	G	ENST00000341228	Transcript	missense_variant	1407/2061	611/1245	204/414	L/P	cTt/cCt		1		-1	SERPINA12	HGNC	HGNC:18359	protein_coding	YES	CCDS9926.1	ENSP00000342109	Q8IW75		UPI000000D86C	NM_173850.3	deleterious(0)		3/6		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF157,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	67	94497787	94497787	A	G	1	0	0	0	0	1	0	0	0	14365	72	3	5		5	SERPINA12	14	94497787	Missense_Mutation	SNP	A	C3N-01016_TP	1573576	94497787	12545931	285	21854											
KIF26A	0	.	GRCh38	chr14	104152097	104152097	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccagaggccgagcgccGctgtgacgtctgcgccacac	6	5	13	17	6	1	2	0	1	1	1	2	3	1	2	4	1	2	1	4	1	0	0	rs369169884		C3N-01016_TP	C3N-01016_NB	G	G																c.371G>C	p.Arg124Pro	p.R124P	ENST00000423312	3/15	605	407	198	616	614	2	strelka-varscan-mutect	KIF26A,missense_variant,p.Arg124Pro,ENST00000423312,NM_015656.1;KIF26A,5_prime_UTR_variant,,ENST00000315264,;	C	ENST00000423312	Transcript	missense_variant	371/5649	371/5649	124/1882	R/P	cGc/cCc	rs369169884	1		1	KIF26A	HGNC	HGNC:20226	protein_coding	YES	CCDS45171.1	ENSP00000388241	Q9ULI4		UPI00006C145D	NM_015656.1	deleterious(0)		3/15																			MODERATE	1	SNV	5			1										PASS		rs369169884	.												C	3	2	67	104152097	104152097	G	C	1	0	0	0	0	1	0	0	0	8159	1087	38	4		4	KIF26A	14	104152097	Missense_Mutation	SNP	G	C3N-01016_TP	9654310	104152097	2891621	286	21855											
AHNAK2	0	.	GRCh38	chr14	104952337	104952337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggtcttcaggtccccCtgcatggaggggagactcag	7	9	14	11	0	4	1	3	0	1	1	5	3	5	2	2	5	1	1	2	5	0	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.3114G>T	p.Gln1038His	p.Q1038H	ENST00000333244	7/7	433	375	58	394	394	0	strelka-varscan-mutect	AHNAK2,missense_variant,p.Gln1038His,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	A	ENST00000333244	Transcript	missense_variant	3234/18254	3114/17388	1038/5795	Q/H	caG/caT		1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	tolerated(0.16)		7/7		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	67	104952337	104952337	C	A	1	0	0	0	0	1	0	0	0	492	680	24	2		2	AHNAK2	14	104952337	Missense_Mutation	SNP	C	C3N-01016_TP	800240	104952337	2091381	287	21856											
MAGEL2	0	.	GRCh38	chr15	23647144	23647144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccggagggggaggatgaGccatcggtgtccccggaggg	6	5	19	11	3	0	1	0	1	0	0	3	5	2	5	5	7	1	0	5	7	0	0	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.599C>A	p.Ala200Asp	p.A200D	ENST00000532292	1/1	95	72	23	54	54	0	strelka-varscan-mutect	MAGEL2,missense_variant,p.Ala200Asp,ENST00000532292,NM_019066.4;	T	ENST00000532292	Transcript	missense_variant	698/4298	599/3750	200/1249	A/D	gCt/gAt		1		-1	MAGEL2	HGNC	HGNC:6814	protein_coding	YES	CCDS73700.1	ENSP00000433433	Q9UJ55		UPI0001B3CB28	NM_019066.4	deleterious_low_confidence(0)		1/1		Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	67	23647144	23647144	G	T	1	0	0	0	0	1	0	0	0	9107	971	34	2		2	MAGEL2	15	23647144	Missense_Mutation	SNP	G	C3N-01016_TP		23647144	78344045	288	21857											
GOLGA8Q	0	.	GRCh38	chr15	30561909	30561909	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaaaatccatcacctttTatcagaaccagggggccgtg	12	8	10	11	1	2	1	2	0	0	1	3	2	3	2	4	3	1	0	4	3	4	2	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.1487T>A	p.Leu496Ter	p.L496*	ENST00000562783	17/19	33	25	8	19	19	0	varscan-mutect	GOLGA8Q,stop_gained,p.Leu496Ter,ENST00000562783,;RN7SL796P,downstream_gene_variant,,ENST00000613991,;GOLGA8Q,downstream_gene_variant,,ENST00000565941,;	A	ENST00000562783	Transcript	stop_gained	1487/1899	1487/1899	496/632	L/*	tTa/tAa		1		1	GOLGA8Q	HGNC	HGNC:44408	protein_coding	YES		ENSP00000457904		H3BV12	UPI0000DD8290				17/19		hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	67	30561909	30561909	T	A	1	0	0	0	0	0	1	0	0	6456	1764	61	4		4	GOLGA8Q	15	30561909	Nonsense_Mutation	SNP	T	C3N-01016_TP	6914765	30561909	71429280	289	21858											
RYR3	0	.	GRCh38	chr15	33539377	33539377	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttggtggactatacatcCtgcttccaaacagaggtccg	9	11	10	11	1	0	1	0	0	0	1	3	2	3	2	3	3	3	2	3	3	3	4	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.461C>G	p.Pro154Arg	p.P154R	ENST00000634891	6/104	195	125	70	197	197	0	strelka-varscan-mutect	RYR3,missense_variant,p.Pro154Arg,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Pro154Arg,ENST00000622037,;RYR3,missense_variant,p.Pro154Arg,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Pro154Arg,ENST00000389232,;RYR3,missense_variant,p.Pro154Arg,ENST00000634418,;RYR3,downstream_gene_variant,,ENST00000635875,;	G	ENST00000634891	Transcript	missense_variant	562/15591	461/14613	154/4870	P/R	cCt/cGt		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	deleterious(0)		6/104		Gene3D:2.80.10.50,Pfam_domain:PF08709,PROSITE_profiles:PS50919,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16,SMART_domains:SM00472,Superfamily_domains:SSF82109																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	67	33539377	33539377	C	G	1	0	0	0	0	1	0	0	0	14030	681	24	4		4	RYR3	15	33539377	Missense_Mutation	SNP	C	C3N-01016_TP	2977468	33539377	68451812	290	21859											
BAHD1	0	.	GRCh38	chr15	40463931	40463931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggagacaatccgagtccGggacaccgtccttctcaaat	10	8	11	12	3	1	1	1	0	1	1	5	4	4	2	4	3	0	0	4	3	2	1			C3N-01016_TP	C3N-01016_NB	G	G																c.1886G>A	p.Arg629Gln	p.R629Q	ENST00000416165	4/7	248	220	28	286	286	0	strelka-varscan-mutect	BAHD1,missense_variant,p.Arg628Gln,ENST00000561234,NM_001301132.1;BAHD1,missense_variant,p.Arg629Gln,ENST00000416165,NM_014952.4;BAHD1,missense_variant,p.Arg629Gln,ENST00000560846,;RP11-64K12.8,downstream_gene_variant,,ENST00000559730,;BAHD1,upstream_gene_variant,,ENST00000561464,;	A	ENST00000416165	Transcript	missense_variant	1957/4526	1886/2343	629/780	R/Q	cGg/cAg	COSM309421	1		1	BAHD1	HGNC	HGNC:29153	protein_coding	YES	CCDS10058.1	ENSP00000396976	Q8TBE0	A0A024R9K2	UPI000013D778	NM_014952.4	deleterious(0.01)		4/7		PROSITE_profiles:PS51038,hmmpanther:PTHR12505,Pfam_domain:PF01426,SMART_domains:SM00439											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	67	40463931	40463931	G	A	1	0	0	0	0	1	0	0	0	1452	1116	39	1		1	BAHD1	15	40463931	Missense_Mutation	SNP	G	C3N-01016_TP	6924554	40463931	61527258	291	21860											
ISLR	0	.	GRCh38	chr15	74176058	74176058	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaccctgaggctgcagtCgcagaaggggtccctgggca	8	5	17	11	1	0	2	0	1	0	1	2	3	1	3	2	5	2	4	2	5	2	0	rs576140565		C3N-01016_TP	C3N-01016_NB	C	C																c.1200C>A	p.=	p.V400V	ENST00000249842	2/2	75	51	24	83	83	0	strelka-varscan-mutect	ISLR,synonymous_variant,p.=,ENST00000249842,NM_005545.3;ISLR,synonymous_variant,p.=,ENST00000395118,NM_201526.1;STRA6,downstream_gene_variant,,ENST00000323940,NM_001142617.1;STRA6,downstream_gene_variant,,ENST00000616000,NM_001142618.1;STRA6,downstream_gene_variant,,ENST00000395105,NM_022369.3;STRA6,downstream_gene_variant,,ENST00000423167,NM_001142619.1;STRA6,downstream_gene_variant,,ENST00000416286,;STRA6,downstream_gene_variant,,ENST00000449139,;STRA6,downstream_gene_variant,,ENST00000535552,NM_001199040.1;STRA6,downstream_gene_variant,,ENST00000563965,NM_001199042.1;STRA6,downstream_gene_variant,,ENST00000574278,NM_001199041.1;STRA6,downstream_gene_variant,,ENST00000572785,;ISLR,downstream_gene_variant,,ENST00000560862,;ISLR,downstream_gene_variant,,ENST00000559510,;RP11-665J16.1,intron_variant,,ENST00000561647,;STRA6,downstream_gene_variant,,ENST00000574439,;STRA6,downstream_gene_variant,,ENST00000545137,;	A	ENST00000249842	Transcript	synonymous_variant	1557/2371	1200/1287	400/428	V	gtC/gtA	rs576140565	1		1	ISLR	HGNC	HGNC:6133	protein_coding	YES	CCDS10260.1	ENSP00000249842	O14498	A0A146E5L3	UPI0000049E09	NM_005545.3			2/2		hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF14																	LOW	1	SNV	1			1										PASS		rs576140565	.												A	2	1	67	74176058	74176058	C	A	1	0	0	0	0	0	0	0	1	7765	871	31	1		1	ISLR	15	74176058	Silent	SNP	C	C3N-01016_TP	33712127	74176058	27815131	292	21861											
MEX3B	0	.	GRCh38	chr15	82045573	82045573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctcgtcactgtccagccCcagcagggagagctggtcga	7	6	13	15	2	1	1	1	0	0	1	4	3	2	1	4	2	3	2	4	2	0	0	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.133G>T	p.Gly45Trp	p.G45W	ENST00000329713	1/2	338	283	55	290	290	0	strelka-varscan-mutect	MEX3B,missense_variant,p.Gly45Trp,ENST00000558133,;MEX3B,missense_variant,p.Gly45Trp,ENST00000329713,NM_032246.4;	A	ENST00000329713	Transcript	missense_variant	569/3528	133/1710	45/569	G/W	Ggg/Tgg		1		-1	MEX3B	HGNC	HGNC:25297	protein_coding	YES	CCDS10319.1	ENSP00000329918	Q6ZN04		UPI00001982CC	NM_032246.4	deleterious(0)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR23285,hmmpanther:PTHR23285:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	82045573	82045573	C	A	1	0	0	0	0	1	0	0	0	9463	623	22	2		2	MEX3B	15	82045573	Missense_Mutation	SNP	C	C3N-01016_TP	7869515	82045573	19945616	293	21862											
NTRK3	0	.	GRCh38	chr15	88183474	88183474	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaatgctccgaagtccTgagttcttgatggtcctaga	8	12	12	9	1	1	4	0	3	1	1	4	5	4	4	3	2	1	3	3	2	3	3	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.339A>T	p.=	p.S113S	ENST00000360948	5/20	404	342	62	434	434	0	strelka-varscan-mutect	NTRK3,synonymous_variant,p.=,ENST00000394480,NM_002530.3;NTRK3,synonymous_variant,p.=,ENST00000558676,;NTRK3,synonymous_variant,p.=,ENST00000317501,;NTRK3,synonymous_variant,p.=,ENST00000360948,NM_001012338.2;NTRK3,synonymous_variant,p.=,ENST00000357724,;NTRK3,synonymous_variant,p.=,ENST00000355254,NM_001243101.1;NTRK3,synonymous_variant,p.=,ENST00000626019,;NTRK3,synonymous_variant,p.=,ENST00000629765,;NTRK3,synonymous_variant,p.=,ENST00000557856,;NTRK3,synonymous_variant,p.=,ENST00000542733,NM_001320135.1;NTRK3,synonymous_variant,p.=,ENST00000540489,NM_001007156.2;NTRK3,synonymous_variant,p.=,ENST00000559188,;	A	ENST00000360948	Transcript	synonymous_variant	645/3004	339/2520	113/839	S	tcA/tcT		1		-1	NTRK3	HGNC	HGNC:8033	protein_coding	YES	CCDS32322.1	ENSP00000354207	Q16288	X5D2R1	UPI000006DC82	NM_001012338.2			5/20		Gene3D:3.80.10.10,Pfam_domain:PF13855,Prints_domain:PR01939,Superfamily_domains:SSF52058																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	67	88183474	88183474	T	A	1	0	0	0	0	0	0	0	1	10774	1567	55	4		4	NTRK3	15	88183474	Silent	SNP	T	C3N-01016_TP	6137901	88183474	13807715	294	21863											
ACAN	0	.	GRCh38	chr15	88843585	88843585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgtgaggaccgtctacGtgcatgccaaccagacgggc	8	6	15	12	4	1	2	0	1	1	1	1	3	1	3	3	3	4	1	3	3	2	1	rs766293702		C3N-01016_TP	C3N-01016_NB	G	G																c.988G>A	p.Val330Met	p.V330M	ENST00000439576	6/18	88	71	17	89	89	0	strelka-varscan-mutect	ACAN,missense_variant,p.Val330Met,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Val330Met,ENST00000617301,;ACAN,missense_variant,p.Val330Met,ENST00000559004,;ACAN,missense_variant,p.Val330Met,ENST00000561243,;ACAN,missense_variant,p.Val330Met,ENST00000352105,NM_001135.3;ACAN,missense_variant,p.Val330Met,ENST00000558207,;	A	ENST00000439576	Transcript	missense_variant	1362/8840	988/7593	330/2530	V/M	Gtg/Atg	rs766293702,COSM4426762,COSM4426763	1		1	ACAN	HGNC	HGNC:319	protein_coding	YES	CCDS53970.1	ENSP00000387356		E7EX88	UPI0001B23381	NM_013227.3	deleterious(0.03)		6/18		PROSITE_profiles:PS50963,hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs766293702	.												A	3	1	67	88843585	88843585	G	A	1	0	0	0	0	1	0	0	0	160	1145	40	1		1	ACAN	15	88843585	Missense_Mutation	SNP	G	C3N-01016_TP	660111	88843585	13147604	295	21864											
CIITA	0	.	GRCh38	chr16	10907215	10907215	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctccatggagcaggccCaggcatacgtgatgcgctac	8	8	12	13	2	1	1	0	1	1	0	2	2	1	2	2	3	4	4	2	3	2	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1726C>T	p.Gln576Ter	p.Q576*	ENST00000618327	11/20	778	729	49	601	601	0	strelka-varscan-mutect	CIITA,stop_gained,p.Gln575Ter,ENST00000324288,NM_000246.3;CIITA,stop_gained,p.Gln576Ter,ENST00000618327,NM_001286402.1;CIITA,intron_variant,,ENST00000618207,;CIITA,intron_variant,,ENST00000381835,NM_001286403.1;CIITA,intron_variant,,ENST00000537380,;CIITA,non_coding_transcript_exon_variant,,ENST00000570546,;CIITA,non_coding_transcript_exon_variant,,ENST00000573309,;CIITA,downstream_gene_variant,,ENST00000571186,;	T	ENST00000618327	Transcript	stop_gained	1859/4657	1726/3396	576/1131	Q/*	Cag/Tag		1		1	CIITA	HGNC	HGNC:7067	protein_coding	YES	CCDS73826.1	ENSP00000485010		A0A087X2I7	UPI0003C0C509	NM_001286402.1			11/20		Pfam_domain:PF05729,PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF104,Superfamily_domains:SSF52540																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	67	10907215	10907215	C	T	1	0	0	0	0	0	1	0	0	3190	595	21	3		3	CIITA	16	10907215	Nonsense_Mutation	SNP	C	C3N-01016_TP		10907215	79431130	296	21865											
MYH11	0	.	GRCh38	chr16	15837919	15837919	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatactcacatatattagccCtgagaagtaccgctccctca	13	10	5	13	1	2	1	2	1	0	1	3	2	3	1	3	0	3	2	3	0	7	5	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.334G>T	p.Gly112Trp	p.G112W	ENST00000396324	2/42	222	147	75	261	260	1	strelka-varscan-mutect	MYH11,missense_variant,p.Gly112Trp,ENST00000452625,NM_001040113.1;MYH11,missense_variant,p.Gly112Trp,ENST00000396324,NM_001040114.1;MYH11,missense_variant,p.Gly112Trp,ENST00000576790,NM_022844.2;MYH11,missense_variant,p.Gly112Trp,ENST00000300036,NM_002474.2;MYH11,non_coding_transcript_exon_variant,,ENST00000571505,;	A	ENST00000396324	Transcript	missense_variant	422/6847	334/5940	112/1979	G/W	Ggg/Tgg		1		-1	MYH11	HGNC	HGNC:7569	protein_coding	YES	CCDS45423.1	ENSP00000379616	P35749		UPI00005B7237	NM_001040114.1	deleterious(0)		2/42		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	15837919	15837919	C	A	1	0	0	0	0	1	0	0	0	10031	681	24	2		2	MYH11	16	15837919	Missense_Mutation	SNP	C	C3N-01016_TP	4930704	15837919	74500426	297	21866											
GPR139	0	.	GRCh38	chr16	20032000	20032000	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttggcaatgtcggacAtgatgtgtaccagccagcgg	9	9	14	9	2	0	1	0	1	0	0	1	2	0	2	2	3	3	4	2	3	2	2	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.797T>A	p.Met266Lys	p.M266K	ENST00000570682	2/2	258	244	14	287	287	0	strelka-varscan-mutect	GPR139,missense_variant,p.Met266Lys,ENST00000570682,NM_001002911.2;GPR139,3_prime_UTR_variant,,ENST00000326571,;	T	ENST00000570682	Transcript	missense_variant	1098/1613	797/1062	266/353	M/K	aTg/aAg		1		-1	GPR139	HGNC	HGNC:19995	protein_coding	YES	CCDS32398.1	ENSP00000458791	Q6DWJ6	A0A142CHG1	UPI000004C566	NM_001002911.2	deleterious(0)		2/2		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22751,hmmpanther:PTHR22751:SF49,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		rs1159032666	.												T	3	4	67	20032000	20032000	A	T	1	0	0	0	0	1	0	0	0	6534	217	8	4		4	GPR139	16	20032000	Missense_Mutation	SNP	A	C3N-01016_TP	4194081	20032000	70306345	298	21867											
PDILT	0	.	GRCh38	chr16	20376163	20376163	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttctggctaatttgtcGtctcaaccaaacgactaagg	10	13	8	10	2	2	0	1	0	2	0	4	1	2	0	1	2	3	2	1	2	4	4	rs139247719		C3N-01016_TP	C3N-01016_NB	G	G																c.448C>A	p.=	p.R150R	ENST00000302451	4/12	168	102	66	199	199	0	strelka-varscan-mutect	PDILT,synonymous_variant,p.=,ENST00000302451,NM_174924.1;	T	ENST00000302451	Transcript	synonymous_variant	697/2153	448/1755	150/584	R	Cga/Aga	rs139247719,COSM1478596	1		-1	PDILT	HGNC	HGNC:27338	protein_coding	YES	CCDS10584.1	ENSP00000305465	Q8N807		UPI000000DAC6	NM_174924.1			4/12		hmmpanther:PTHR18929:SF58,hmmpanther:PTHR18929,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833											0,1						LOW	1	SNV	1		0,1	1										PASS		rs139247719	.												T	2	4	67	20376163	20376163	G	T	1	0	0	0	0	0	0	0	1	11762	1153	40	1		1	PDILT	16	20376163	Silent	SNP	G	C3N-01016_TP	344163	20376163	69962182	299	21868											
ARHGAP17	0	.	GRCh38	chr16	24964308	24964308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatttgtgagcttggttccaCctgcaaaacaaaggggtcac	11	10	11	9	0	1	1	1	1	0	0	2	2	2	1	2	3	3	3	2	3	3	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.462G>T	p.Arg154Ser	p.R154S	ENST00000289968	7/20	102	90	12	84	84	0	strelka-mutect	ARHGAP17,missense_variant,p.Arg154Ser,ENST00000289968,NM_001006634.2;ARHGAP17,missense_variant,p.Arg154Ser,ENST00000303665,NM_018054.5;ARHGAP17,missense_variant,p.Arg153Ser,ENST00000455311,;ARHGAP17,downstream_gene_variant,,ENST00000573449,;ARHGAP17,splice_region_variant,,ENST00000575975,;ARHGAP17,splice_region_variant,,ENST00000571480,;ARHGAP17,splice_region_variant,,ENST00000573625,;ARHGAP17,splice_region_variant,,ENST00000571575,;ARHGAP17,upstream_gene_variant,,ENST00000575656,;ARHGAP17,downstream_gene_variant,,ENST00000575447,;	A	ENST00000289968	Transcript	missense_variant,splice_region_variant	532/3461	462/2646	154/881	R/S	agG/agT		1		-1	ARHGAP17	HGNC	HGNC:18239	protein_coding	YES	CCDS32409.1	ENSP00000289968	Q68EM7		UPI00000433FD	NM_001006634.2	deleterious(0.01)		7/20		Gene3D:1.20.1270.60,Pfam_domain:PF03114,PROSITE_profiles:PS51021,hmmpanther:PTHR14130,hmmpanther:PTHR14130:SF3,SMART_domains:SM00721,Superfamily_domains:SSF103657																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	24964308	24964308	C	A	1	0	0	0	0	1	0	0	0	991	521	18	2		2	ARHGAP17	16	24964308	Missense_Mutation	SNP	C	C3N-01016_TP	4588145	24964308	65374037	300	21869											
TBX6	0	.	GRCh38	chr16	30086384	30086384	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcagctccagaaatgcAgccgagtagggggctgagcg	9	5	17	10	3	0	2	0	1	0	1	1	3	1	2	2	3	5	5	2	3	2	1	rs373496540		C3N-01016_TP	C3N-01016_NB	A	A																c.1152T>A	p.=	p.A384A	ENST00000395224	9/9	89	70	19	57	57	0	strelka-mutect	TBX6,synonymous_variant,p.=,ENST00000395224,NM_004608.3;TBX6,synonymous_variant,p.=,ENST00000279386,;TBX6,synonymous_variant,p.=,ENST00000627355,;TBX6,downstream_gene_variant,,ENST00000553607,;PPP4C,downstream_gene_variant,,ENST00000279387,NM_001303503.1,NM_002720.2,NM_001303507.1,NM_001303506.1;PPP4C,downstream_gene_variant,,ENST00000561610,;PPP4C,downstream_gene_variant,,ENST00000627746,;PPP4C,downstream_gene_variant,,ENST00000562664,NM_001303504.1;PPP4C,downstream_gene_variant,,ENST00000562222,;TBX6,3_prime_UTR_variant,,ENST00000567664,;PPP4C,downstream_gene_variant,,ENST00000566749,;PPP4C,downstream_gene_variant,,ENST00000563200,;PPP4C,downstream_gene_variant,,ENST00000564966,;PPP4C,downstream_gene_variant,,ENST00000568810,;PPP4C,downstream_gene_variant,,ENST00000567040,;PPP4C,downstream_gene_variant,,ENST00000563732,;PPP4C,downstream_gene_variant,,ENST00000563597,;PPP4C,downstream_gene_variant,,ENST00000567828,;PPP4C,downstream_gene_variant,,ENST00000567642,;	T	ENST00000395224	Transcript	synonymous_variant	1212/1803	1152/1311	384/436	A	gcT/gcA	rs373496540	1		-1	TBX6	HGNC	HGNC:11605	protein_coding	YES	CCDS10670.1	ENSP00000378650	O95947		UPI000013DBC7	NM_004608.3			9/9		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF100																	LOW	1	SNV	1			1										PASS		rs373496540	.												T	2	4	67	30086384	30086384	A	T	1	0	0	0	0	0	0	0	1	16066	175	7	4		4	TBX6	16	30086384	Silent	SNP	A	C3N-01016_TP	5122076	30086384	60251961	301	21870											
ITGAL	0	.	GRCh38	chr16	30481509	30481509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattatgttaaacggaaggAccctgatgctctgctgaagc	12	10	11	8	1	1	3	0	2	1	1	1	5	1	5	1	2	4	3	1	2	5	2	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.647A>G	p.Asp216Gly	p.D216G	ENST00000356798	7/31	323	200	123	307	307	0	strelka-varscan-mutect	ITGAL,missense_variant,p.Asp216Gly,ENST00000356798,NM_002209.2;ITGAL,missense_variant,p.Asp133Gly,ENST00000358164,NM_001114380.1;ITGAL,missense_variant,p.Asp133Gly,ENST00000564118,;ITGAL,intron_variant,,ENST00000433423,;ITGAL,downstream_gene_variant,,ENST00000569725,;RNU7-61P,downstream_gene_variant,,ENST00000515897,;RP11-297C4.2,intron_variant,,ENST00000569459,;RP11-297C4.3,upstream_gene_variant,,ENST00000562525,;ITGAL,intron_variant,,ENST00000565348,;ITGAL,3_prime_UTR_variant,,ENST00000562857,;ITGAL,intron_variant,,ENST00000568926,;ITGAL,downstream_gene_variant,,ENST00000565864,;ITGAL,upstream_gene_variant,,ENST00000566149,;	G	ENST00000356798	Transcript	missense_variant	827/5213	647/3513	216/1170	D/G	gAc/gGc		1		1	ITGAL	HGNC	HGNC:6148	protein_coding	YES	CCDS32433.1	ENSP00000349252	P20701		UPI000013C4FF	NM_002209.2	deleterious(0.02)		7/31		Pfam_domain:PF00092,PROSITE_profiles:PS50234,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	67	30481509	30481509	A	G	1	0	0	0	0	1	0	0	0	7793	275	10	5		5	ITGAL	16	30481509	Missense_Mutation	SNP	A	C3N-01016_TP	395125	30481509	59856836	302	21871											
TRIM72	0	.	GRCh38	chr16	31224562	31224562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggcggcccacgcgcattgGcctttacctgagcttcggcg	5	8	14	14	5	0	1	0	1	0	0	1	2	0	1	3	4	2	2	3	4	1	4	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1241G>T	p.Gly414Val	p.G414V	ENST00000322122	7/7	85	46	39	65	65	0	strelka-varscan-mutect	TRIM72,missense_variant,p.Gly414Val,ENST00000322122,NM_001008274.3;TRIM72,intron_variant,,ENST00000613872,;	T	ENST00000322122	Transcript	missense_variant	1525/8500	1241/1434	414/477	G/V	gGc/gTc		1		1	TRIM72	HGNC	HGNC:32671	protein_coding	YES	CCDS32437.1	ENSP00000312675	Q6ZMU5		UPI00001FFF74	NM_001008274.3	deleterious(0)		7/7		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF11,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407																	MODERATE	1	SNV	2			1										PASS		rs1393209259	.												T	3	4	67	31224562	31224562	G	T	1	0	0	0	0	1	0	0	0	17041	1203	42	2		2	TRIM72	16	31224562	Missense_Mutation	SNP	G	C3N-01016_TP	743053	31224562	59113783	303	21872											
ITGAM	0	.	GRCh38	chr16	31275698	31275698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaagatctttgcgatcgaGggtgagtcaggcatctgtgt	9	11	15	6	2	3	3	1	1	2	2	4	6	3	3	0	2	1	1	0	2	1	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1008G>T	p.Glu336Asp	p.E336D	ENST00000544665	9/30	154	94	60	97	97	0	strelka-varscan-mutect	ITGAM,missense_variant,p.Glu336Asp,ENST00000544665,NM_001145808.1;ITGAM,missense_variant,p.Glu336Asp,ENST00000287497,NM_000632.3;ITGAM,missense_variant,p.Glu36Asp,ENST00000567031,;ITGAM,downstream_gene_variant,,ENST00000570242,;	T	ENST00000544665	Transcript	missense_variant,splice_region_variant	1079/4718	1008/3462	336/1153	E/D	gaG/gaT		1		1	ITGAM	HGNC	HGNC:6149	protein_coding	YES	CCDS54004.1	ENSP00000441691	P11215		UPI000004B26A	NM_001145808.1	deleterious(0)		9/30		Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF76,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		rs1399415217	.												T	3	4	67	31275698	31275698	G	T	1	0	0	0	0	1	0	0	0	7794	1014	35	2		2	ITGAM	16	31275698	Missense_Mutation	SNP	G	C3N-01016_TP	51136	31275698	59062647	304	21873											
MYLK3	0	.	GRCh38	chr16	46712667	46712667	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcatgtaggtgatgactcCcacactccacatgtctgtgg	9	10	10	12	0	1	2	0	2	1	0	3	2	3	2	2	2	1	2	2	2	1	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.2095G>T	p.Gly699Ter	p.G699*	ENST00000394809	10/13	53	34	19	46	46	0	strelka-varscan-mutect	MYLK3,stop_gained,p.Gly699Ter,ENST00000394809,NM_182493.2;MYLK3,stop_gained,p.Gly358Ter,ENST00000536476,NM_001308301.1;MYLK3,upstream_gene_variant,,ENST00000562104,;MYLK3,upstream_gene_variant,,ENST00000565182,;	A	ENST00000394809	Transcript	stop_gained	2211/6911	2095/2460	699/819	G/*	Gga/Tga		1		-1	MYLK3	HGNC	HGNC:29826	protein_coding	YES	CCDS10723.2	ENSP00000378288	Q32MK0		UPI000059D380	NM_182493.2			10/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF45,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		rs1263790395	.												A	4	1	67	46712667	46712667	C	A	1	0	0	0	0	0	1	0	0	10058	632	22	2		2	MYLK3	16	46712667	Nonsense_Mutation	SNP	C	C3N-01016_TP	15436969	46712667	43625678	305	21874											
CHST6	0	.	GRCh38	chr16	75479150	75479150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacccacgtgccgttggtgcCcagcacgatgccgttgtcac	6	8	11	16	4	1	0	1	0	0	0	1	1	1	0	4	1	4	3	4	1	0	2			C3N-01016_TP	C3N-01016_NB	C	C																c.679G>T	p.Gly227Cys	p.G227C	ENST00000332272	3/3	377	317	60	315	315	0	strelka-varscan-mutect	CHST6,missense_variant,p.Gly227Cys,ENST00000332272,NM_021615.4;CHST6,missense_variant,p.Gly227Cys,ENST00000390664,;RP11-77K12.4,intron_variant,,ENST00000530512,;	A	ENST00000332272	Transcript	missense_variant	859/7957	679/1188	227/395	G/C	Ggc/Tgc	COSM1679276	1		-1	CHST6	HGNC	HGNC:6938	protein_coding	YES	CCDS10918.1	ENSP00000328983	Q9GZX3		UPI00000467C8	NM_021615.4	deleterious(0.01)		3/3		Gene3D:3.40.50.300,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF13,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	3		1	1										PASS		.	.												A	3	1	67	75479150	75479150	C	A	1	0	0	0	0	1	0	0	0	3168	623	22	2		2	CHST6	16	75479150	Missense_Mutation	SNP	C	C3N-01016_TP	28766483	75479150	14859195	306	21875											
CNTNAP4	0	.	GRCh38	chr16	76355436	76355436	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggatatggtagctccaactgGgtgaccagctacctcctgat	9	10	11	11	0	0	2	0	2	0	0	2	3	2	3	4	3	4	3	4	3	4	3	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.315G>C	p.Trp105Cys	p.W105C	ENST00000611870	3/24	167	114	53	193	193	0	strelka-varscan-mutect	CNTNAP4,missense_variant,p.Trp105Cys,ENST00000307431,;CNTNAP4,missense_variant,p.Trp105Cys,ENST00000611870,NM_033401.3;CNTNAP4,missense_variant,p.Trp105Cys,ENST00000377504,;CNTNAP4,missense_variant,p.Trp108Cys,ENST00000476707,;CNTNAP4,missense_variant,p.Trp105Cys,ENST00000622250,;CNTNAP4,missense_variant,p.Trp80Cys,ENST00000478060,NM_138994.3;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000463177,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000471618,;	C	ENST00000611870	Transcript	missense_variant	700/4867	315/3927	105/1308	W/C	tgG/tgC		1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3	deleterious(0)		3/24		Gene3D:2.60.120.260,Pfam_domain:PF00754,PROSITE_profiles:PS50022,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659,SMART_domains:SM00231,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	67	76355436	76355436	G	C	1	0	0	0	0	1	0	0	0	3431	1241	43	4		4	CNTNAP4	16	76355436	Missense_Mutation	SNP	G	C3N-01016_TP	876286	76355436	13982909	307	21876											
ADAMTS18	0	.	GRCh38	chr16	77319872	77319872	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaccagcgtctcatttgTgggccctggcgcgtacagac	9	8	12	12	3	1	2	1	0	1	2	2	2	1	2	2	2	2	1	2	2	2	2	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.2509A>T	p.Thr837Ser	p.T837S	ENST00000282849	16/23	392	260	132	363	363	0	strelka-varscan-mutect	ADAMTS18,missense_variant,p.Thr837Ser,ENST00000282849,NM_001326358.1,NM_199355.2;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000568393,;	A	ENST00000282849	Transcript	missense_variant	2928/5913	2509/3666	837/1221	T/S	Aca/Tca		1		-1	ADAMTS18	HGNC	HGNC:17110	protein_coding	YES	CCDS10926.1	ENSP00000282849	Q8TE60		UPI0000233610	NM_001326358.1,NM_199355.2	deleterious(0)		16/23		hmmpanther:PTHR13723:SF167,hmmpanther:PTHR13723,Pfam_domain:PF05986																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	77319872	77319872	T	A	1	0	0	0	0	1	0	0	0	307	1696	59	4		4	ADAMTS18	16	77319872	Missense_Mutation	SNP	T	C3N-01016_TP	964436	77319872	13018473	308	21877											
ZNF469	0	.	GRCh38	chr16	88434432	88434432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccacaccaaccctgacaGgatgcccaggggccactcct	9	4	9	19	0	0	1	0	1	0	0	1	2	1	2	7	3	2	0	7	3	1	0	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.6878G>T	p.Arg2293Met	p.R2293M	ENST00000437464	2/2	261	186	75	207	207	0	strelka-varscan-mutect	ZNF469,missense_variant,p.Arg2321Met,ENST00000565624,;ZNF469,missense_variant,p.Arg2293Met,ENST00000437464,NM_001127464.2;	T	ENST00000437464	Transcript	missense_variant	6878/13203	6878/11778	2293/3925	R/M	aGg/aTg		1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2	tolerated(0.05)		2/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	67	88434432	88434432	G	T	1	0	0	0	0	1	0	0	0	18500	1000	35	2		2	ZNF469	16	88434432	Missense_Mutation	SNP	G	C3N-01016_TP	11114560	88434432	1903913	309	21878											
GALNS	0	.	GRCh38	chr16	88842826	88842826	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccccgaggtcaccccatcCcatctgcagggaagagcacg	10	4	10	17	2	2	1	1	0	1	1	3	3	3	2	5	2	2	2	5	2	1	0	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.124G>T	p.Gly42Ter	p.G42*	ENST00000268695	2/14	128	114	14	109	109	0	strelka-varscan-mutect	GALNS,stop_gained,p.Gly42Ter,ENST00000268695,NM_000512.4;GALNS,intron_variant,,ENST00000562831,;GALNS,non_coding_transcript_exon_variant,,ENST00000565364,;GALNS,upstream_gene_variant,,ENST00000562931,;GALNS,upstream_gene_variant,,ENST00000561812,;GALNS,3_prime_UTR_variant,,ENST00000568613,;GALNS,non_coding_transcript_exon_variant,,ENST00000562593,;GALNS,intron_variant,,ENST00000567525,;GALNS,upstream_gene_variant,,ENST00000567779,;GALNS,upstream_gene_variant,,ENST00000566563,;	A	ENST00000268695	Transcript	stop_gained	213/2363	124/1569	42/522	G/*	Gga/Tga		1		-1	GALNS	HGNC	HGNC:4122	protein_coding	YES	CCDS10970.1	ENSP00000268695	P34059		UPI000012AF92	NM_000512.4			2/14		Gene3D:3.40.720.10,Pfam_domain:PF00884,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF198,Low_complexity_(Seg):seg,Superfamily_domains:SSF53649																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	67	88842826	88842826	C	A	1	0	0	0	0	0	1	0	0	6074	637	22	2		2	GALNS	16	88842826	Nonsense_Mutation	SNP	C	C3N-01016_TP	408394	88842826	1495519	310	21879											
NLRP1	0	.	GRCh38	chr17	5559089	5559089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtgagtttttccttcCgcttcatctgctgcatcagg	5	16	9	11	1	4	1	3	1	1	0	6	1	6	1	2	1	2	4	2	1	0	4	rs138756363		C3N-01016_TP	C3N-01016_NB	C	C																c.1607G>A	p.Arg536Gln	p.R536Q	ENST00000617618	5/18	238	178	60	275	275	0	strelka-varscan-mutect	NLRP1,missense_variant,p.Arg536Gln,ENST00000262467,NM_001033053.2;NLRP1,missense_variant,p.Arg536Gln,ENST00000269280,NM_014922.4;NLRP1,missense_variant,p.Arg536Gln,ENST00000617618,NM_033004.3;NLRP1,missense_variant,p.Arg536Gln,ENST00000619223,NM_033006.3;NLRP1,missense_variant,p.Arg536Gln,ENST00000345221,;NLRP1,missense_variant,p.Arg536Gln,ENST00000613500,;NLRP1,missense_variant,p.Arg536Gln,ENST00000572272,;NLRP1,missense_variant,p.Arg536Gln,ENST00000354411,;NLRP1,missense_variant,p.Arg536Gln,ENST00000577119,NM_033007.3;NLRP1,non_coding_transcript_exon_variant,,ENST00000571307,;NLRP1,missense_variant,p.Arg536Gln,ENST00000571451,;NLRP1,missense_variant,p.Arg536Gln,ENST00000544378,;	T	ENST00000617618	Transcript	missense_variant	1973/4788	1607/4422	536/1473	R/Q	cGg/cAg	rs138756363,COSM1610510,COSM1610511,COSM1610512	1		-1	NLRP1	HGNC	HGNC:14374	protein_coding	YES	CCDS42246.1	ENSP00000478516	Q9C000		UPI0000038309	NM_033004.3	tolerated(1)		5/18		Low_complexity_(Seg):seg,PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF13,hmmpanther:PTHR24106											0,1,1,1						MODERATE	1	SNV	5		0,1,1,1	1										PASS		rs138756363	.												T	3	4	67	5559089	5559089	C	T	1	0	0	0	0	1	0	0	0	10508	652	23	1		1	NLRP1	17	5559089	Missense_Mutation	SNP	C	C3N-01016_TP		5559089	77698352	311	21880											
SLC13A5	0	.	GRCh38	chr17	6687583	6687583	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgatggcatttggaggggtGgccacaggcaacatgaaggc	11	6	16	8	1	0	1	0	1	0	0	0	3	0	2	1	7	1	2	1	7	2	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1521C>T	p.=	p.A507A	ENST00000433363	11/12	155	116	39	180	180	0	strelka-varscan-mutect	SLC13A5,synonymous_variant,p.=,ENST00000433363,NM_177550.4;SLC13A5,synonymous_variant,p.=,ENST00000293800,NM_001284509.1;SLC13A5,synonymous_variant,p.=,ENST00000381074,NM_001284510.1;SLC13A5,synonymous_variant,p.=,ENST00000570687,;SLC13A5,intron_variant,,ENST00000573648,NM_001143838.2;C17orf100,intron_variant,,ENST00000635042,;C17orf100,downstream_gene_variant,,ENST00000634977,;CTC-281F24.3,intron_variant,,ENST00000634558,;CTC-281F24.3,intron_variant,,ENST00000634823,;SLC13A5,downstream_gene_variant,,ENST00000572727,;SLC13A5,non_coding_transcript_exon_variant,,ENST00000574580,;	A	ENST00000433363	Transcript	synonymous_variant	1755/3435	1521/1707	507/568	A	gcC/gcT		1		-1	SLC13A5	HGNC	HGNC:23089	protein_coding	YES	CCDS11079.1	ENSP00000406220	Q86YT5		UPI000000D834	NM_177550.4			11/12		Transmembrane_helices:TMhelix,hmmpanther:PTHR10283:SF82,hmmpanther:PTHR10283,PROSITE_patterns:PS01271,Pfam_domain:PF00939																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	67	6687583	6687583	G	A	1	0	0	0	0	0	0	0	1	14660	1335	47	3		3	SLC13A5	17	6687583	Silent	SNP	G	C3N-01016_TP	1128494	6687583	76569858	312	21881											
MYH13	0	.	GRCh38	chr17	10309364	10309364	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaggaggccattcctgCgctccacgatggccagctgc	7	6	12	16	2	0	0	0	0	0	0	2	2	2	1	5	3	4	3	5	3	0	1	rs747286137		C3N-01016_TP	C3N-01016_NB	C	C																c.5039G>T	p.Arg1680Leu	p.R1680L	ENST00000418404	34/41	190	155	35	208	208	0	strelka-varscan-mutect	MYH13,missense_variant,p.Arg1680Leu,ENST00000418404,;MYH13,missense_variant,p.Arg1680Leu,ENST00000252172,NM_003802.2;MYH13,missense_variant,p.Arg1680Leu,ENST00000621918,;RP11-401O9.4,intron_variant,,ENST00000609088,;	A	ENST00000418404	Transcript	missense_variant	5203/6296	5039/5817	1680/1938	R/L	cGc/cTc	rs747286137,COSM1216153,COSM1216154	1		-1	MYH13	HGNC	HGNC:7571	protein_coding	YES	CCDS45613.1	ENSP00000404570	Q9UKX3		UPI0000DB39EA		deleterious(0)		34/41		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF504,Superfamily_domains:SSF90257											0,1,1						MODERATE		SNV	5		0,1,1	1										PASS		rs747286137	.												A	3	1	67	10309364	10309364	C	A	1	0	0	0	0	1	0	0	0	10032	768	27	1		1	MYH13	17	10309364	Missense_Mutation	SNP	C	C3N-01016_TP	3621781	10309364	72948077	313	21882											
MYH3	0	.	GRCh38	chr17	10635796	10635796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtaaaggcttgcttgCtcctggaaagttgggatact	8	12	14	7	0	0	0	0	0	0	0	1	2	1	2	1	4	3	6	1	4	4	5	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.3914G>T	p.Ser1305Ile	p.S1305I	ENST00000583535	29/41	462	358	104	528	528	0	strelka-varscan-mutect	MYH3,missense_variant,p.Ser1305Ile,ENST00000583535,NM_002470.3;	A	ENST00000583535	Transcript	missense_variant	4002/6037	3914/5823	1305/1940	S/I	aGc/aTc		1		-1	MYH3	HGNC	HGNC:7573	protein_coding	YES	CCDS11157.1	ENSP00000464317	P11055		UPI000013C892	NM_002470.3	tolerated(0.12)		29/41		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,Superfamily_domains:SSF90257																	MODERATE	1	SNV	5			1										PASS		rs1272813611	.												A	3	1	67	10635796	10635796	C	A	1	0	0	0	0	1	0	0	0	10036	797	28	2		2	MYH3	17	10635796	Missense_Mutation	SNP	C	C3N-01016_TP	326432	10635796	72621645	314	21883											
DNAH9	0	.	GRCh38	chr17	11891945	11891945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgcccagctcacctttCaggtaaaagtggattgaaga	12	10	9	10	0	2	2	2	1	0	1	2	3	2	3	3	2	2	2	3	2	3	4	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.11281C>A	p.Gln3761Lys	p.Q3761K	ENST00000262442	58/69	104	83	21	126	126	0	strelka-varscan-mutect	DNAH9,missense_variant,p.Gln3761Lys,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Gln3761Lys,ENST00000454412,;DNAH9,missense_variant,p.Gln73Lys,ENST00000608377,NM_004662.2;DNAH9,splice_region_variant,,ENST00000396001,;DNAH9,splice_region_variant,,ENST00000581682,;	A	ENST00000262442	Transcript	missense_variant,splice_region_variant	11349/13750	11281/13461	3761/4486	Q/K	Cag/Aag		1		1	DNAH9	HGNC	HGNC:2953	protein_coding	YES	CCDS11160.1	ENSP00000262442	Q9NYC9		UPI0000141BA2	NM_001372.3	deleterious(0.01)		58/69		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	11891945	11891945	C	A	1	0	0	0	0	1	0	0	0	4423	840	29	2		2	DNAH9	17	11891945	Missense_Mutation	SNP	C	C3N-01016_TP	1256149	11891945	71365496	315	21884											
TRPV2	0	.	GRCh38	chr17	16431851	16431851	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttttcggcttcgctgtagGtaaaggctccctccggcccc	4	11	10	16	3	0	0	0	0	0	0	4	0	2	0	5	4	0	5	5	4	3	5	rs780683461		C3N-01016_TP	C3N-01016_NB	G	G																c.1654+1G>T		p.X552_splice	ENST00000338560		169	134	35	203	203	0	strelka-varscan-mutect	TRPV2,splice_donor_variant,,ENST00000338560,NM_016113.4;TRPV2,intron_variant,,ENST00000577277,;TRPV2,upstream_gene_variant,,ENST00000581560,;TRPV2,upstream_gene_variant,,ENST00000580788,;TRPV2,upstream_gene_variant,,ENST00000577865,;TRPV2,intron_variant,,ENST00000583241,;TRPV2,upstream_gene_variant,,ENST00000475513,;TRPV2,upstream_gene_variant,,ENST00000493434,;AC093484.4,downstream_gene_variant,,ENST00000441875,;	T	ENST00000338560	Transcript	splice_donor_variant	-/2808	1654/2295	552/764			rs780683461	1		1	TRPV2	HGNC	HGNC:18082	protein_coding	YES	CCDS32576.1	ENSP00000342222	Q9Y5S1		UPI0000032F4E	NM_016113.4				11/14																		HIGH	1	SNV	1			1										PASS		rs780683461	.												T	5	4	67	16431851	16431851	G	T	1	0	0	0	0	0	0	1	0	17102	1275	44	2		2	TRPV2	17	16431851	Splice_Site	SNP	G	C3N-01016_TP	4539906	16431851	66825590	316	21885											
PEMT	0	.	GRCh38	chr17	17512563	17512563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagagcacgagcacgaCgcccagtcccaggagcgcga	10	2	15	14	5	0	1	0	0	0	1	1	6	1	2	2	2	3	3	2	2	0	0	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.412G>T	p.Val138Phe	p.V138F	ENST00000255389	4/7	68	49	19	76	76	0	strelka-varscan-mutect	PEMT,missense_variant,p.Val138Phe,ENST00000395781,NM_001267552.1;PEMT,missense_variant,p.Val138Phe,ENST00000255389,NM_148172.2,NM_001267551.1;PEMT,missense_variant,p.Val101Phe,ENST00000395783,NM_007169.2;PEMT,missense_variant,p.Val116Phe,ENST00000435340,;PEMT,missense_variant,p.Val101Phe,ENST00000395782,NM_148173.1;RP11-524F11.1,downstream_gene_variant,,ENST00000582325,;PEMT,non_coding_transcript_exon_variant,,ENST00000484838,;PEMT,non_coding_transcript_exon_variant,,ENST00000490392,;PEMT,non_coding_transcript_exon_variant,,ENST00000421096,;PEMT,non_coding_transcript_exon_variant,,ENST00000472446,;PEMT,3_prime_UTR_variant,,ENST00000461404,;PEMT,intron_variant,,ENST00000580147,;	A	ENST00000255389	Transcript	missense_variant	486/1013	412/711	138/236	V/F	Gtc/Ttc		1		-1	PEMT	HGNC	HGNC:8830	protein_coding	YES	CCDS11186.1	ENSP00000255389	Q9UBM1		UPI000013FE53	NM_148172.2,NM_001267551.1	tolerated(0.31)		4/7		Pfam_domain:PF04191,PIRSF_domain:PIRSF005444,PROSITE_profiles:PS51599,hmmpanther:PTHR15458,hmmpanther:PTHR15458:SF5,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1336774178	.												A	3	1	67	17512563	17512563	C	A	1	0	0	0	0	1	0	0	0	11814	536	19	1		1	PEMT	17	17512563	Missense_Mutation	SNP	C	C3N-01016_TP	1080712	17512563	65744878	317	21886											
OMG	0	.	GRCh38	chr17	31295443	31295443	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattttggtcactttgggttGagttaccacactcagagagt	9	15	10	7	0	2	2	2	1	0	1	2	3	2	2	1	2	1	2	1	2	2	6	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.889C>G	p.Gln297Glu	p.Q297E	ENST00000247271	2/2	566	468	98	496	496	0	strelka-varscan-mutect	OMG,missense_variant,p.Gln297Glu,ENST00000247271,NM_002544.4;NF1,intron_variant,,ENST00000358273,NM_001042492.2;NF1,intron_variant,,ENST00000356175,NM_000267.3;NF1,intron_variant,,ENST00000456735,;OMG,intron_variant,,ENST00000580156,;OMG,non_coding_transcript_exon_variant,,ENST00000582029,;NF1,intron_variant,,ENST00000579081,;NF1,intron_variant,,ENST00000493220,;	C	ENST00000247271	Transcript	missense_variant	1151/1947	889/1323	297/440	Q/E	Caa/Gaa		1		-1	OMG	HGNC	HGNC:8135	protein_coding	YES	CCDS11265.1	ENSP00000247271	P23515		UPI0000130CE1	NM_002544.4	tolerated(1)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	67	31295443	31295443	G	C	1	0	0	0	0	1	0	0	0	10941	1299	45	4		4	OMG	17	31295443	Missense_Mutation	SNP	G	C3N-01016_TP	13782880	31295443	51961998	318	21887											
SLFN14	0	.	GRCh38	chr17	35557512	35557512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattctgaggccaatatcCtcatatcttcctcttcctga	11	14	4	12	0	4	2	1	2	3	0	7	2	7	2	4	1	0	0	4	1	5	5	rs780550066		C3N-01016_TP	C3N-01016_NB	C	C																c.551G>T	p.Arg184Met	p.R184M	ENST00000415846	1/4	245	209	36	156	156	0	strelka-varscan-mutect	SLFN14,missense_variant,p.Arg184Met,ENST00000415846,NM_001129820.1;RP11-1094M14.14,downstream_gene_variant,,ENST00000591634,;RP11-1094M14.12,downstream_gene_variant,,ENST00000588445,;	A	ENST00000415846	Transcript	missense_variant	587/2889	551/2739	184/912	R/M	aGg/aTg	rs780550066	1		-1	SLFN14	HGNC	HGNC:32689	protein_coding	YES	CCDS45650.1	ENSP00000391101	P0C7P3		UPI000041A9FB	NM_001129820.1	deleterious(0.02)		1/4		hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF30																	MODERATE	1	SNV	1			1										PASS		rs780550066	.												A	3	1	67	35557512	35557512	C	A	1	0	0	0	0	1	0	0	0	15026	681	24	2		2	SLFN14	17	35557512	Missense_Mutation	SNP	C	C3N-01016_TP	4262069	35557512	47699929	319	21888											
TADA2A	0	.	GRCh38	chr17	37426962	37426962	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcagtgtttcactcgaGgctttgagtacaagaaacat	11	13	9	8	1	1	2	1	1	0	1	2	3	1	2	0	1	3	4	0	1	3	4	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.145G>C	p.Gly49Arg	p.G49R	ENST00000615182	4/16	196	137	59	102	101	1	strelka-varscan-mutect	TADA2A,missense_variant,p.Gly49Arg,ENST00000615182,NM_001166105.2;TADA2A,missense_variant,p.Gly49Arg,ENST00000612272,NM_001488.4;TADA2A,missense_variant,p.Gly49Arg,ENST00000620367,NM_001291918.1,NM_133439.3;TADA2A,missense_variant,p.Gly49Arg,ENST00000614112,;TADA2A,5_prime_UTR_variant,,ENST00000621780,;TADA2A,intron_variant,,ENST00000615328,;TADA2A,downstream_gene_variant,,ENST00000618662,;TADA2A,missense_variant,p.Gly49Arg,ENST00000620628,;TADA2A,missense_variant,p.Gly49Arg,ENST00000614122,;TADA2A,non_coding_transcript_exon_variant,,ENST00000610834,;TADA2A,intron_variant,,ENST00000620838,;	C	ENST00000615182	Transcript	missense_variant	318/4253	145/1332	49/443	G/R	Ggc/Cgc		1		1	TADA2A	HGNC	HGNC:11531	protein_coding	YES	CCDS11319.1	ENSP00000481091		A0A024R0Y4	UPI00001254E3	NM_001166105.2	deleterious(0)		4/16		PIRSF_domain:PIRSF025024,hmmpanther:PTHR12374,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	67	37426962	37426962	G	C	1	0	0	0	0	1	0	0	0	15906	1000	35	4		4	TADA2A	17	37426962	Missense_Mutation	SNP	G	C3N-01016_TP	1869450	37426962	45830479	320	21889											
ARHGAP23	0	.	GRCh38	chr17	38510151	38510151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcaggggccgctgcctGgcgccgtcgcccccgaggcc	2	3	17	19	6	0	0	0	0	0	0	1	1	0	0	7	5	1	2	7	5	0	0	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.3655G>T	p.Gly1219Cys	p.G1219C	ENST00000622683	24/24	20	11	9	27	27	0	strelka-varscan-mutect	ARHGAP23,missense_variant,p.Gly1219Cys,ENST00000622683,NM_001199417.1;ARHGAP23,downstream_gene_variant,,ENST00000620417,;ARHGAP23,downstream_gene_variant,,ENST00000620329,;ARHGAP23,downstream_gene_variant,,ENST00000618325,;	T	ENST00000622683	Transcript	missense_variant	3723/5964	3655/4476	1219/1491	G/C	Ggc/Tgc		1		1	ARHGAP23	HGNC	HGNC:29293	protein_coding	YES	CCDS56027.1	ENSP00000481862	Q9P227		UPI0000F3BE51	NM_001199417.1	deleterious(0.02)		24/24		hmmpanther:PTHR23175:SF5,hmmpanther:PTHR23175																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	67	38510151	38510151	G	T	1	0	0	0	0	1	0	0	0	997	1348	47	2		2	ARHGAP23	17	38510151	Missense_Mutation	SNP	G	C3N-01016_TP	1083189	38510151	44747290	321	21890											
KRTAP9-2	0	.	GRCh38	chr17	41226674	41226674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacccactgttgctcccCttgctgtcagcctacctgct	5	12	7	17	0	1	1	1	1	0	0	2	1	2	1	5	0	5	4	5	0	1	3	rs760736540		C3N-01016_TP	C3N-01016_NB	C	C																c.20C>A	p.Pro7His	p.P7H	ENST00000377721	1/1	145	108	37	127	127	0	strelka-varscan-mutect	KRTAP9-2,missense_variant,p.Pro7His,ENST00000377721,NM_031961.2;	A	ENST00000377721	Transcript	missense_variant	27/1005	20/525	7/174	P/H	cCt/cAt	rs760736540	1		1	KRTAP9-2	HGNC	HGNC:16926	protein_coding	YES	CCDS32651.1	ENSP00000366950	Q9BYQ4		UPI000013CE13	NM_031961.2	deleterious(0)		1/1		Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF56,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		rs760736540	.												A	3	1	67	41226674	41226674	C	A	1	0	0	0	0	1	0	0	0	8470	681	24	2		2	KRTAP9-2	17	41226674	Missense_Mutation	SNP	C	C3N-01016_TP	2716523	41226674	42030767	322	21891											
PTRF	0	.	GRCh38	chr17	42404796	42404796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtcgccggcctccccgCgctccgcgccgccctcgtcg	1	5	13	22	9	0	0	0	0	0	0	5	0	2	0	7	2	0	2	7	2	0	0	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1064G>T	p.Arg355Leu	p.R355L	ENST00000357037	2/2	161	112	49	132	132	0	strelka-varscan-mutect	PTRF,missense_variant,p.Arg355Leu,ENST00000357037,NM_012232.5;	A	ENST00000357037	Transcript	missense_variant	1484/3828	1064/1173	355/390	R/L	cGc/cTc		1		-1	PTRF	HGNC	HGNC:9688	protein_coding	YES	CCDS11425.1	ENSP00000349541	Q6NZI2		UPI00001AF3C2	NM_012232.5	tolerated(0.32)		2/2		hmmpanther:PTHR15240,hmmpanther:PTHR15240:SF3,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	42404796	42404796	C	A	1	0	0	0	0	1	0	0	0	12970	768	27	1		1	PTRF	17	42404796	Missense_Mutation	SNP	C	C3N-01016_TP	1178122	42404796	40852645	323	21892											
PLEKHH3	0	.	GRCh38	chr17	42673677	42673677	+	Silent	SNP	C	C	A																															ctgcgctctgggccggtcacCgagcacaggctggtgagcac																								rs376307002		C3N-01016_TP	C3N-01016_NB	C	C																c.456G>T	p.=	p.S152S	ENST00000591022	4/13	107	95	12	114	114	0	strelka-varscan-mutect	PLEKHH3,synonymous_variant,p.=,ENST00000293349,;PLEKHH3,synonymous_variant,p.=,ENST00000591022,NM_024927.4;PLEKHH3,synonymous_variant,p.=,ENST00000587627,;PLEKHH3,non_coding_transcript_exon_variant,,ENST00000456950,;PLEKHH3,non_coding_transcript_exon_variant,,ENST00000592974,;PLEKHH3,non_coding_transcript_exon_variant,,ENST00000591544,;PLEKHH3,synonymous_variant,p.=,ENST00000591196,;PLEKHH3,non_coding_transcript_exon_variant,,ENST00000591490,;PLEKHH3,upstream_gene_variant,,ENST00000591476,;	A	ENST00000591022	Transcript	synonymous_variant	844/2983	456/2382	152/793	S	tcG/tcT	rs376307002	1		-1	PLEKHH3	HGNC	HGNC:26105	protein_coding	YES	CCDS11434.1	ENSP00000468678	Q7Z736		UPI0000200DD6	NM_024927.4			4/13		PROSITE_profiles:PS50003,hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF17,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		rs376307002	.												A	2	1	67	42673677	42673677	C	A	1	0	0	0	0	0	0	0	1	12171	639	23	1		1	PLEKHH3	17	42673677	Silent	SNP	C	C3N-01016_TP	268881	42673677	40583764	324	21893	466	2									
PLEKHH3	0	.	GRCh38	chr17	42673678	42673678	+	Missense_Mutation	SNP	G	G	A																															tgcgctctgggccggtcaccGagcacaggctggtgagcacg																								rs778023997		C3N-01016_TP	C3N-01016_NB	G	G																c.455C>T	p.Ser152Leu	p.S152L	ENST00000591022	4/13	107	95	12	118	118	0	strelka-varscan-mutect	PLEKHH3,missense_variant,p.Ser152Leu,ENST00000293349,;PLEKHH3,missense_variant,p.Ser152Leu,ENST00000591022,NM_024927.4;PLEKHH3,missense_variant,p.Ser197Leu,ENST00000587627,;PLEKHH3,non_coding_transcript_exon_variant,,ENST00000456950,;PLEKHH3,non_coding_transcript_exon_variant,,ENST00000592974,;PLEKHH3,non_coding_transcript_exon_variant,,ENST00000591544,;PLEKHH3,missense_variant,p.Ser152Leu,ENST00000591196,;PLEKHH3,non_coding_transcript_exon_variant,,ENST00000591490,;PLEKHH3,upstream_gene_variant,,ENST00000591476,;	A	ENST00000591022	Transcript	missense_variant	843/2983	455/2382	152/793	S/L	tCg/tTg	rs778023997	1		-1	PLEKHH3	HGNC	HGNC:26105	protein_coding	YES	CCDS11434.1	ENSP00000468678	Q7Z736		UPI0000200DD6	NM_024927.4	deleterious(0)		4/13		PROSITE_profiles:PS50003,hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF17,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		rs778023997	.												A	3	1	67	42673678	42673678	G	A	1	0	0	0	0	1	0	0	0	12171	1059	37	1		1	PLEKHH3	17	42673678	Missense_Mutation	SNP	G	C3N-01016_TP	1	42673678	40583763	325	21894	466	2									
MEOX1	0	.	GRCh38	chr17	43661416	43661416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggaaggagaacggggtgGgcgggtagtggggtagccct	7	6	23	5	2	0	1	0	0	0	1	0	3	0	2	1	9	2	2	1	9	4	2	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.119C>A	p.Pro40His	p.P40H	ENST00000318579	1/3	169	130	39	179	179	0	strelka-varscan-mutect	MEOX1,missense_variant,p.Pro40His,ENST00000318579,NM_004527.3;MEOX1,missense_variant,p.Pro40His,ENST00000329168,NM_013999.3;MEOX1,missense_variant,p.Pro11Thr,ENST00000549132,;MEOX1,intron_variant,,ENST00000393661,NM_001040002.1;	T	ENST00000318579	Transcript	missense_variant	539/2707	119/765	40/254	P/H	cCc/cAc		1		-1	MEOX1	HGNC	HGNC:7013	protein_coding	YES	CCDS11466.1	ENSP00000321684	P50221		UPI000012F410	NM_004527.3	tolerated(0.13)		1/3		hmmpanther:PTHR24328:SF8,hmmpanther:PTHR24328																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	43661416	43661416	G	T	1	0	0	0	0	1	0	0	0	9418	1232	43	2		2	MEOX1	17	43661416	Missense_Mutation	SNP	G	C3N-01016_TP	987738	43661416	39596025	326	21895											
PLEKHM1	0	.	GRCh38	chr17	45475246	45475246	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcaggacagctgggaTgaactggccgtgtccaggct	8	7	16	10	1	0	1	0	1	0	0	1	3	1	3	2	5	3	4	2	5	1	0	rs766416067		C3N-01016_TP	C3N-01016_NB	T	T																c.777A>T	p.=	p.S259S	ENST00000430334	4/12	516	413	103	489	489	0	strelka-varscan-mutect	PLEKHM1,synonymous_variant,p.=,ENST00000430334,NM_014798.2;PLEKHM1,synonymous_variant,p.=,ENST00000584420,;PLEKHM1,downstream_gene_variant,,ENST00000589780,;PLEKHM1,downstream_gene_variant,,ENST00000636800,;PLEKHM1,intron_variant,,ENST00000582119,;PLEKHM1,downstream_gene_variant,,ENST00000586562,;PLEKHM1,synonymous_variant,p.=,ENST00000581448,;PLEKHM1,3_prime_UTR_variant,,ENST00000579197,;PLEKHM1,3_prime_UTR_variant,,ENST00000446609,;PLEKHM1,downstream_gene_variant,,ENST00000581932,;PLEKHM1,downstream_gene_variant,,ENST00000586084,;	A	ENST00000430334	Transcript	synonymous_variant	911/5263	777/3171	259/1056	S	tcA/tcT	rs766416067	1		-1	PLEKHM1	HGNC	HGNC:29017	protein_coding	YES	CCDS32671.1	ENSP00000389913	Q9Y4G2		UPI00001C1FC4	NM_014798.2			4/12		Low_complexity_(Seg):seg,hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF5																	LOW	1	SNV	1			1										PASS		rs766416067	.												A	2	1	67	45475246	45475246	T	A	1	0	0	0	0	0	0	0	1	12173	1451	51	4		4	PLEKHM1	17	45475246	Silent	SNP	T	C3N-01016_TP	1813830	45475246	37782195	327	21896											
MRPL10	0	.	GRCh38	chr17	47824279	47824279	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttctcgcgttgctctcTgatgtactggtccaacaggg	6	13	10	12	2	2	1	0	1	2	0	6	1	4	1	2	2	3	3	2	2	2	3	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.742A>G	p.Arg248Gly	p.R248G	ENST00000290208	5/5	206	169	37	228	227	1	strelka-varscan-mutect	MRPL10,missense_variant,p.Arg248Gly,ENST00000290208,;MRPL10,missense_variant,p.Arg238Gly,ENST00000351111,NM_145255.3;MRPL10,missense_variant,p.Arg248Gly,ENST00000414011,NM_148887.2;OSBPL7,upstream_gene_variant,,ENST00000007414,NM_145798.2;OSBPL7,upstream_gene_variant,,ENST00000392507,;OSBPL7,upstream_gene_variant,,ENST00000613735,;MRPL10,3_prime_UTR_variant,,ENST00000421763,;OSBPL7,upstream_gene_variant,,ENST00000579728,;OSBPL7,upstream_gene_variant,,ENST00000580140,;OSBPL7,upstream_gene_variant,,ENST00000580226,;OSBPL7,upstream_gene_variant,,ENST00000585051,;MRPL10,downstream_gene_variant,,ENST00000423147,;MRPL10,downstream_gene_variant,,ENST00000480901,;MRPL10,downstream_gene_variant,,ENST00000466016,;	C	ENST00000290208	Transcript	missense_variant	1195/2013	742/816	248/271	R/G	Aga/Gga		1		-1	MRPL10	HGNC	HGNC:14055	protein_coding	YES	CCDS11517.1	ENSP00000290208	Q7Z7H8		UPI000013DFCA		deleterious(0)		5/5		hmmpanther:PTHR11560:SF8,hmmpanther:PTHR11560,Superfamily_domains:0053665																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	67	47824279	47824279	T	C	1	0	0	0	0	1	0	0	0	9750	1588	55	5		5	MRPL10	17	47824279	Missense_Mutation	SNP	T	C3N-01016_TP	2349033	47824279	35433162	328	21897											
PPP1R9B	0	.	GRCh38	chr17	50150101	50150101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgggacggcgggtgcGgcggcggcgcaggctgcgcg	3	2	23	13	9	0	0	0	0	0	0	0	1	0	1	1	7	3	3	1	7	0	0	rs539885092		C3N-01016_TP	C3N-01016_NB	G	G																c.413C>T	p.Pro138Leu	p.P138L	ENST00000612501	1/10	81	53	28	54	54	0	strelka-varscan-mutect	PPP1R9B,missense_variant,p.Pro138Leu,ENST00000612501,NM_032595.4;AC002401.1,downstream_gene_variant,,ENST00000451776,;PPP1R9B,upstream_gene_variant,,ENST00000513579,;	A	ENST00000612501	Transcript	missense_variant	530/4167	413/2454	138/817	P/L	cCg/cTg	rs539885092	1		-1	PPP1R9B	HGNC	HGNC:9298	protein_coding	YES	CCDS74102.1	ENSP00000478767		D3DTX6	UPI00005AE42D	NM_032595.4	tolerated(0.31)		1/10		hmmpanther:PTHR16154,hmmpanther:PTHR16154:SF24,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs539885092	.												A	3	1	67	50150101	50150101	G	A	1	0	0	0	0	1	0	0	0	12502	1116	39	1		1	PPP1R9B	17	50150101	Missense_Mutation	SNP	G	C3N-01016_TP	2325822	50150101	33107340	329	21898											
DGKE	0	.	GRCh38	chr17	56856518	56856518	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctttctcacaggaattcAcaatgaacaactatttttct	13	14	3	11	0	3	1	2	1	2	0	4	2	3	2	1	1	2	0	1	1	5	5	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.1105A>G	p.Thr369Ala	p.T369A	ENST00000284061	8/12	97	67	30	77	77	0	strelka-varscan-mutect	DGKE,missense_variant,p.Thr369Ala,ENST00000284061,NM_003647.2;DGKE,missense_variant,p.Thr313Ala,ENST00000572944,;	G	ENST00000284061	Transcript	missense_variant	1285/8660	1105/1704	369/567	T/A	Aca/Gca		1		1	DGKE	HGNC	HGNC:2852	protein_coding	YES	CCDS11590.1	ENSP00000284061	P52429	A1L4Q0	UPI000012DD1F	NM_003647.2	tolerated(0.49)		8/12		hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF45,Pfam_domain:PF00609,SMART_domains:SM00045,Superfamily_domains:SSF111331																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	67	56856518	56856518	A	G	1	0	0	0	0	1	0	0	0	4274	159	6	5		5	DGKE	17	56856518	Missense_Mutation	SNP	A	C3N-01016_TP	6706417	56856518	26400923	330	21899											
VEZF1	0	.	GRCh38	chr17	57979243	57979243	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgttgttgttgttgttgTtgctgctgctgctgctgctg	2	19	13	7	0	0	0	0	0	0	0	0	0	0	0	0	0	6	12	0	0	0	6	rs138088904		C3N-01016_TP	C3N-01016_NB	T	T																c.1047A>G	p.=	p.Q349Q	ENST00000581208	5/6	246	232	14	225	222	3	varscan-mutect	VEZF1,synonymous_variant,p.=,ENST00000258963,;VEZF1,synonymous_variant,p.=,ENST00000584396,;VEZF1,synonymous_variant,p.=,ENST00000581208,NM_007146.2;VEZF1,downstream_gene_variant,,ENST00000583932,;	C	ENST00000581208	Transcript	synonymous_variant	1088/2321	1047/1566	349/521	Q	caA/caG	rs138088904	1		-1	VEZF1	HGNC	HGNC:12949	protein_coding	YES	CCDS32687.1	ENSP00000462337	Q14119		UPI000013D01B	NM_007146.2			5/6		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil																	LOW	1	SNV	1			1										PASS		rs914850486	.												C	2	2	67	57979243	57979243	T	C	1	0	0	0	0	0	0	0	1	17701	1722	60	5		5	VEZF1	17	57979243	Silent	SNP	T	C3N-01016_TP	1122725	57979243	25278198	331	21900											
ACE	0	.	GRCh38	chr17	63488655	63488655	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacccctaccagatctgacGaatgtgatggccacgtcccg	11	7	9	14	3	1	3	0	2	1	1	2	4	2	3	5	1	2	0	5	1	3	1	rs747443207		C3N-01016_TP	C3N-01016_NB	G	G																c.2313G>A	p.=	p.T771T	ENST00000290866	16/25	303	218	85	271	270	1	strelka-mutect	ACE,synonymous_variant,p.=,ENST00000428043,;ACE,synonymous_variant,p.=,ENST00000290866,NM_000789.3;ACE,synonymous_variant,p.=,ENST00000290863,NM_152830.2;ACE,synonymous_variant,p.=,ENST00000413513,NM_001178057.1;ACE,synonymous_variant,p.=,ENST00000582761,;ACE,upstream_gene_variant,,ENST00000577418,;CTD-2501B8.1,synonymous_variant,p.=,ENST00000577647,;ACE,3_prime_UTR_variant,,ENST00000579314,;ACE,3_prime_UTR_variant,,ENST00000578839,;ACE,3_prime_UTR_variant,,ENST00000582005,;ACE,3_prime_UTR_variant,,ENST00000579204,;ACE,non_coding_transcript_exon_variant,,ENST00000584865,;ACE,downstream_gene_variant,,ENST00000582678,;ACE,upstream_gene_variant,,ENST00000583645,;ACE,downstream_gene_variant,,ENST00000579726,;	A	ENST00000290866	Transcript	synonymous_variant	2337/4959	2313/3921	771/1306	T	acG/acA	rs747443207,COSM5526153,COSM5526154,COSM5526155,COSM5526156	1		1	ACE	HGNC	HGNC:2707	protein_coding	YES	CCDS11637.1	ENSP00000290866	P12821		UPI000002B8AD	NM_000789.3			16/25		hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486											0,1,1,1,1						LOW	1	SNV	1		0,1,1,1,1	1										PASS		rs747443207	.												A	2	1	67	63488655	63488655	G	A	1	0	0	0	0	0	0	0	1	174	1045	37	1		1	ACE	17	63488655	Silent	SNP	G	C3N-01016_TP	5509412	63488655	19768786	332	21901											
SCN4A	0	.	GRCh38	chr17	63963804	63963804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccatctgcctccccaccttCcagagcttgggcggccttgg	4	9	10	18	1	1	1	0	0	1	1	3	1	3	1	7	3	2	1	7	3	0	3	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1474G>A	p.Glu492Lys	p.E492K	ENST00000435607	10/24	86	76	10	100	100	0	strelka-varscan-mutect	SCN4A,missense_variant,p.Glu492Lys,ENST00000435607,NM_000334.4;SCN4A,missense_variant,p.Glu492Lys,ENST00000578147,;SCN4A,upstream_gene_variant,,ENST00000581514,;	T	ENST00000435607	Transcript	missense_variant	1551/7805	1474/5511	492/1836	E/K	Gaa/Aaa		1		-1	SCN4A	HGNC	HGNC:10591	protein_coding	YES	CCDS45761.1	ENSP00000396320	P35499		UPI0000201254	NM_000334.4	tolerated(0.39)		10/24		Low_complexity_(Seg):seg,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF223,Prints_domain:PR01665																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	63963804	63963804	C	T	1	0	0	0	0	1	0	0	0	14189	864	30	3		3	SCN4A	17	63963804	Missense_Mutation	SNP	C	C3N-01016_TP	475149	63963804	19293637	333	21902											
PSMD12	0	.	GRCh38	chr17	67357398	67357398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacatcttcactactgcaaCtaagatacgggatgtcgata	13	10	8	10	2	2	1	1	0	1	1	3	3	2	2	0	1	4	2	0	1	5	5	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.202G>T	p.Val68Phe	p.V68F	ENST00000356126	3/11	185	146	39	169	169	0	strelka-varscan-mutect	PSMD12,missense_variant,p.Val68Phe,ENST00000356126,NM_002816.3;PSMD12,missense_variant,p.Val48Phe,ENST00000357146,NM_174871.2;PSMD12,non_coding_transcript_exon_variant,,ENST00000581618,;PSMD12,3_prime_UTR_variant,,ENST00000584008,;PSMD12,3_prime_UTR_variant,,ENST00000579365,;PSMD12,non_coding_transcript_exon_variant,,ENST00000584289,;PSMD12,non_coding_transcript_exon_variant,,ENST00000578015,;	A	ENST00000356126	Transcript	missense_variant	310/4406	202/1371	68/456	V/F	Gtt/Ttt		1		-1	PSMD12	HGNC	HGNC:9557	protein_coding	YES	CCDS11669.1	ENSP00000348442	O00232	A0A0S2Z489	UPI0000132792	NM_002816.3	deleterious(0)		3/11		hmmpanther:PTHR10855,hmmpanther:PTHR10855:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	67357398	67357398	C	A	1	0	0	0	0	1	0	0	0	12846	565	20	2		2	PSMD12	17	67357398	Missense_Mutation	SNP	C	C3N-01016_TP	3393594	67357398	15900043	334	21903											
ABCA6	0	.	GRCh38	chr17	69136128	69136128	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaagtggactgttatatcCctggaaaaatattaacttat	15	13	6	7	0	0	0	0	0	0	0	1	2	1	2	2	2	1	1	2	2	8	5	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.424G>T	p.Gly142Ter	p.G142*	ENST00000284425	4/39	142	111	31	59	59	0	strelka-varscan-mutect	ABCA6,stop_gained,p.Gly142Ter,ENST00000284425,NM_080284.2;ABCA6,stop_gained,p.Gly142Ter,ENST00000590645,;	A	ENST00000284425	Transcript	stop_gained	599/5300	424/4854	142/1617	G/*	Gga/Tga		1		-1	ABCA6	HGNC	HGNC:36	protein_coding	YES	CCDS11683.1	ENSP00000284425	Q8N139		UPI000013DD9D	NM_080284.2			4/39		Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF13																	HIGH	1	SNV	1			1										PASS		rs1485620410	.												A	4	1	67	69136128	69136128	C	A	1	0	0	0	0	0	1	0	0	40	632	22	2		2	ABCA6	17	69136128	Nonsense_Mutation	SNP	C	C3N-01016_TP	1778730	69136128	14121313	335	21904											
SDK2	0	.	GRCh38	chr17	73395261	73395261	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccactcctccaggtcctcGatggtgtagtcccgctccac	5	10	9	17	2	0	0	0	0	0	0	7	1	6	0	6	2	0	2	6	2	1	1	rs779642580		C3N-01016_TP	C3N-01016_NB	G	G																c.3486C>A	p.=	p.I1162I	ENST00000392650	25/45	345	273	72	350	350	0	strelka-varscan-mutect	SDK2,synonymous_variant,p.=,ENST00000392650,NM_001144952.1;SDK2,synonymous_variant,p.=,ENST00000424778,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;	T	ENST00000392650	Transcript	synonymous_variant	3487/10723	3486/6519	1162/2172	I	atC/atA	rs779642580,COSM1303285,COSM4810920	1		-1	SDK2	HGNC	HGNC:19308	protein_coding	YES	CCDS45769.1	ENSP00000376421	Q58EX2		UPI0000E5A088	NM_001144952.1			25/45		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF37,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs779642580	.												T	2	4	67	73395261	73395261	G	T	1	0	0	0	0	0	0	0	1	14244	1048	37	1		1	SDK2	17	73395261	Silent	SNP	G	C3N-01016_TP	4259133	73395261	9862180	336	21905											
CARD14	0	.	GRCh38	chr17	80189841	80189841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccactcgctgcgggagcGggccgtggctgccgagaggc	5	5	17	14	5	0	1	0	0	0	1	2	3	1	2	3	4	3	2	3	4	0	0	rs771413361		C3N-01016_TP	C3N-01016_NB	G	G																c.932G>T	p.Arg311Leu	p.R311L	ENST00000573882	8/23	99	83	16	136	136	0	strelka-varscan-mutect	CARD14,missense_variant,p.Arg311Leu,ENST00000573882,;CARD14,missense_variant,p.Arg311Leu,ENST00000344227,NM_024110.4;CARD14,missense_variant,p.Arg311Leu,ENST00000570421,NM_001257970.1;CARD14,non_coding_transcript_exon_variant,,ENST00000573754,;CARD14,upstream_gene_variant,,ENST00000574148,;CARD14,missense_variant,p.Arg311Leu,ENST00000575500,;CARD14,missense_variant,p.Arg108Leu,ENST00000571450,;CARD14,non_coding_transcript_exon_variant,,ENST00000571861,;CARD14,upstream_gene_variant,,ENST00000575666,;CARD14,downstream_gene_variant,,ENST00000572838,;	T	ENST00000573882	Transcript	missense_variant	1468/4537	932/3015	311/1004	R/L	cGg/cTg	rs771413361	1		1	CARD14	HGNC	HGNC:16446	protein_coding	YES	CCDS11768.1	ENSP00000458715	Q9BXL6		UPI000013D81B		deleterious(0.01)		8/23		Low_complexity_(Seg):seg,hmmpanther:PTHR14559:SF1,hmmpanther:PTHR14559,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	5			1										PASS		rs771413361	.												T	3	4	67	80189841	80189841	G	T	1	0	0	0	0	1	0	0	0	2341	1116	39	1		1	CARD14	17	80189841	Missense_Mutation	SNP	G	C3N-01016_TP	6794580	80189841	3067600	337	21906											
MYOM1	0	.	GRCh38	chr18	3100171	3100171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacttacttgggaacttgtGttcatggctgagagcaagta	11	13	11	6	0	1	1	1	1	0	1	1	3	1	2	0	2	4	4	0	2	5	6	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.3715C>A	p.His1239Asn	p.H1239N	ENST00000356443	25/38	205	172	33	179	179	0	strelka-varscan-mutect	MYOM1,missense_variant,p.His1239Asn,ENST00000356443,NM_003803.3;MYOM1,missense_variant,p.His1143Asn,ENST00000261606,NM_019856.1;MYOM1,missense_variant,p.His1006Asn,ENST00000400569,;	T	ENST00000356443	Transcript	missense_variant	4049/5847	3715/5058	1239/1685	H/N	Cac/Aac		1		-1	MYOM1	HGNC	HGNC:7613	protein_coding	YES	CCDS45824.1	ENSP00000348821	P52179		UPI000022A657	NM_003803.3	tolerated(0.22)		25/38																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	3100171	3100171	G	T	1	0	0	0	0	1	0	0	0	10092	1377	48	2		2	MYOM1	18	3100171	Missense_Mutation	SNP	G	C3N-01016_TP		3100171	77273114	338	21907											
LOXHD1	0	.	GRCh38	chr18	46485144	46485144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccgtttctatgacgatCtcgtaggctgtaatggagga	8	13	12	8	3	2	1	0	1	2	0	3	4	2	3	1	3	1	4	1	3	3	5	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.2724G>T	p.Glu908Asp	p.E908D	ENST00000300591	21/24	72	46	26	98	98	0	strelka-varscan-mutect	LOXHD1,missense_variant,p.Glu1957Asp,ENST00000536736,NM_144612.6;LOXHD1,missense_variant,p.Glu1813Asp,ENST00000441551,;LOXHD1,missense_variant,p.Glu908Asp,ENST00000300591,NM_001145472.2;LOXHD1,missense_variant,p.Glu846Asp,ENST00000582408,;LOXHD1,missense_variant,p.Glu812Asp,ENST00000579038,NM_001308013.1;LOXHD1,missense_variant,p.Glu258Asp,ENST00000398686,NM_001145473.2;LOXHD1,missense_variant,p.Glu258Asp,ENST00000398705,NM_001173129.1;	A	ENST00000300591	Transcript	missense_variant	3138/3970	2724/3345	908/1114	E/D	gaG/gaT		1		-1	LOXHD1	HGNC	HGNC:26521	protein_coding	YES	CCDS45861.1	ENSP00000300591	Q8IVV2		UPI0000456B8D	NM_001145472.2	tolerated(0.06)		21/24		Gene3D:2.60.60.20,Pfam_domain:PF01477,PROSITE_profiles:PS50095,Superfamily_domains:SSF49723																	MODERATE	1	SNV	1			1										PASS		rs1192453516	.												A	3	1	67	46485144	46485144	C	A	1	0	0	0	0	1	0	0	0	8801	912	32	2		2	LOXHD1	18	46485144	Missense_Mutation	SNP	C	C3N-01016_TP	43384973	46485144	33888141	339	21908											
PHLPP1	0	.	GRCh38	chr18	62903052	62903052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgagacaataagcttggtGatctagatgctatgattttc	12	14	9	6	1	1	4	0	2	1	2	2	5	1	4	0	1	3	2	0	1	5	7	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.2533G>T	p.Asp845Tyr	p.D845Y	ENST00000262719	7/17	267	218	49	304	304	0	strelka-varscan-mutect	PHLPP1,missense_variant,p.Asp845Tyr,ENST00000262719,NM_194449.3;PHLPP1,upstream_gene_variant,,ENST00000591386,;PHLPP1,upstream_gene_variant,,ENST00000591106,;	T	ENST00000262719	Transcript	missense_variant	2767/6390	2533/5154	845/1717	D/Y	Gat/Tat		1		1	PHLPP1	HGNC	HGNC:20610	protein_coding	YES	CCDS45881.2	ENSP00000262719	O60346		UPI000051AE2E	NM_194449.3	deleterious(0)		7/17		Gene3D:3.80.10.10,Pfam_domain:PF13516,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF252,SMART_domains:SM00369,Superfamily_domains:SSF52058,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs1351664436	.												T	3	4	67	62903052	62903052	G	T	1	0	0	0	0	1	0	0	0	11942	1290	45	2		2	PHLPP1	18	62903052	Missense_Mutation	SNP	G	C3N-01016_TP	16417908	62903052	17470233	340	21909											
HCN2	0	.	GRCh38	chr19	616352	616352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctccacaccgcgcttggggCccacgcccgctgcccgggcc	3	4	13	21	5	0	0	0	0	0	0	1	0	1	0	6	3	1	3	6	3	0	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.2548C>T	p.Pro850Ser	p.P850S	ENST00000251287	8/8	63	38	25	56	56	0	strelka-varscan-mutect	HCN2,missense_variant,p.Pro850Ser,ENST00000251287,NM_001194.3;POLRMT,downstream_gene_variant,,ENST00000588649,NM_005035.3;POLRMT,downstream_gene_variant,,ENST00000590336,;POLRMT,downstream_gene_variant,,ENST00000587057,;POLRMT,downstream_gene_variant,,ENST00000589961,;POLRMT,downstream_gene_variant,,ENST00000592633,;	T	ENST00000251287	Transcript	missense_variant	2601/3408	2548/2670	850/889	P/S	Ccc/Tcc		1		1	HCN2	HGNC	HGNC:4846	protein_coding	YES	CCDS12035.1	ENSP00000251287	Q9UL51		UPI000013CCF6	NM_001194.3	tolerated_low_confidence(0.06)		8/8		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF372																	MODERATE	1	SNV	1			1										PASS		rs1294418727	.												T	3	4	67	616352	616352	C	T	1	0	0	0	0	1	0	0	0	6884	739	26	3		3	HCN2	19	616352	Missense_Mutation	SNP	C	C3N-01016_TP		616352	58001264	341	21910											
STK11	0	.	GRCh38	chr19	1220494	1220494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctcaaaatctccgacctgGgcgtggccgaggtaggcacg	8	6	13	14	4	2	0	1	0	1	0	3	2	2	0	4	4	0	2	4	4	3	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.586G>C	p.Gly196Arg	p.G196R	ENST00000326873	4/10	78	38	40	82	82	0	strelka-varscan-mutect	STK11,missense_variant,p.Gly196Arg,ENST00000586243,;STK11,missense_variant,p.Gly196Arg,ENST00000326873,NM_000455.4;STK11,missense_variant,p.Gly138Arg,ENST00000585851,;STK11,upstream_gene_variant,,ENST00000585465,;STK11,downstream_gene_variant,,ENST00000585748,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000591133,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;STK11,downstream_gene_variant,,ENST00000593219,;	C	ENST00000326873	Transcript	missense_variant	1036/2611	586/1302	196/433	G/R	Ggc/Cgc		1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4	deleterious(0)		4/10		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	67	1220494	1220494	G	C	1	0	0	0	0	1	0	0	0	15664	1232	43	4		4	STK11	19	1220494	Missense_Mutation	SNP	G	C3N-01016_TP	604142	1220494	57397122	342	21911											
NMRK2	0	.	GRCh38	chr19	3937248	3937248	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctgtttcagccccaagaCcaaatagcagttggggaaga	12	8	10	11	0	2	2	1	0	1	2	2	3	2	3	4	2	2	3	4	2	4	3	rs756000055		C3N-01016_TP	C3N-01016_NB	C	C																c.141C>A	p.Asp47Glu	p.D47E	ENST00000616156	4/8	226	140	86	236	235	1	strelka-varscan-mutect	NMRK2,missense_variant,p.Asp47Glu,ENST00000616156,NM_001289117.1;NMRK2,missense_variant,p.Asp42Glu,ENST00000168977,NM_170678.2;NMRK2,missense_variant,p.Asp47Glu,ENST00000593949,;NMRK2,missense_variant,p.Asp33Glu,ENST00000599576,;NMRK2,missense_variant,p.Asp18Glu,ENST00000597889,;	A	ENST00000616156	Transcript	missense_variant	431/1139	141/708	47/235	D/E	gaC/gaA	rs756000055	1		1	NMRK2	HGNC	HGNC:17871	protein_coding	YES	CCDS74259.1	ENSP00000480091	Q9NPI5		UPI000189A7D7	NM_001289117.1	deleterious(0.02)		4/8		Gene3D:3.40.50.300,Pfam_domain:PF13238,hmmpanther:PTHR23404,hmmpanther:PTHR23404:SF7,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		rs756000055	.												A	3	1	67	3937248	3937248	C	A	1	0	0	0	0	1	0	0	0	10542	506	18	2		2	NMRK2	19	3937248	Missense_Mutation	SNP	C	C3N-01016_TP	2716754	3937248	54680368	343	21912											
DPP9	0	.	GRCh38	chr19	4694762	4694762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcttgcattcattggcgCggagaaagcagagctcgtcc	8	9	13	11	4	2	2	1	0	1	2	4	3	3	2	1	3	3	3	1	3	1	3	rs182103254		C3N-01016_TP	C3N-01016_NB	C	C																c.1415G>T	p.Arg472Leu	p.R472L	ENST00000262960	13/22	186	117	69	305	305	0	strelka-varscan-mutect	DPP9,missense_variant,p.Arg472Leu,ENST00000262960,NM_139159.4;DPP9,missense_variant,p.Arg443Leu,ENST00000594671,;DPP9,missense_variant,p.Arg443Leu,ENST00000598800,;DPP9,missense_variant,p.Arg472Leu,ENST00000597849,;DPP9,upstream_gene_variant,,ENST00000595327,;DPP9,3_prime_UTR_variant,,ENST00000599163,;DPP9,non_coding_transcript_exon_variant,,ENST00000597145,;DPP9,non_coding_transcript_exon_variant,,ENST00000601764,;DPP9,non_coding_transcript_exon_variant,,ENST00000599998,;DPP9,upstream_gene_variant,,ENST00000597253,;	A	ENST00000262960	Transcript	missense_variant	1693/4295	1415/2679	472/892	R/L	cGc/cTc	rs182103254	1		-1	DPP9	HGNC	HGNC:18648	protein_coding	YES	CCDS45928.1	ENSP00000262960	Q86TI2		UPI000004DB00	NM_139159.4	tolerated(0.08)		13/22		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF109,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171																	MODERATE	1	SNV	1			1										PASS		rs182103254	.												A	3	1	67	4694762	4694762	C	A	1	0	0	0	0	1	0	0	0	4548	768	27	1		1	DPP9	19	4694762	Missense_Mutation	SNP	C	C3N-01016_TP	757514	4694762	53922854	344	21913											
ADGRE3	0	.	GRCh38	chr19	14668763	14668763	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggctccaggtccagcccTtggtccacaagttctctgtt	6	12	10	13	0	1	0	0	0	1	0	5	0	4	0	4	3	1	3	4	3	1	3	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.115A>T	p.Arg39Trp	p.R39W	ENST00000595472	2/2	118	71	47	120	120	0	strelka-varscan-mutect	ADGRE3,missense_variant,p.Arg39Trp,ENST00000595472,;ADGRE3,intron_variant,,ENST00000344373,NM_001289158.1;ADGRE3,intron_variant,,ENST00000253673,NM_032571.4;ADGRE3,intron_variant,,ENST00000599900,;ADGRE3,intron_variant,,ENST00000443157,NM_001289159.1;	A	ENST00000595472	Transcript	missense_variant	343/486	115/174	39/57	R/W	Agg/Tgg		1		-1	ADGRE3	HGNC	HGNC:23647	protein_coding			ENSP00000469965		M0QYN7	UPI0002A474AE		deleterious_low_confidence(0.03)		2/2																			MODERATE		SNV	3			1										PASS		.	.												A	3	1	67	14668763	14668763	T	A	1	0	0	0	0	1	0	0	0	361	1608	56	4		4	ADGRE3	19	14668763	Missense_Mutation	SNP	T	C3N-01016_TP	9974001	14668763	43948853	345	21914											
ZNF66	0	.	GRCh38	chr19	20806138	20806138	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttacagaatgtggcAaagcttttaaccggtcctca	13	11	8	9	1	1	1	1	0	0	1	2	1	2	1	2	2	3	3	2	2	5	4	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.538A>T	p.Lys180Ter	p.K180*	ENST00000344519	4/4	73	62	11	60	60	0	strelka-mutect	ZNF66,stop_gained,p.Lys180Ter,ENST00000344519,;	T	ENST00000344519	Transcript	stop_gained	561/1745	538/1722	180/573	K/*	Aaa/Taa		1		1	ZNF66	HGNC	HGNC:13135	protein_coding	YES		ENSP00000461425	Q6ZN08		UPI00025A2C0A				4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	3			1										PASS		.	.												T	4	4	67	20806138	20806138	A	T	1	0	0	0	0	0	1	0	0	18643	131	5	4		4	ZNF66	19	20806138	Nonsense_Mutation	SNP	A	C3N-01016_TP	6137375	20806138	37811478	346	21915											
ZNF729	0	.	GRCh38	chr19	22315953	22315953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaaacataaggtaattCatactggaaagaaaccctac	19	9	6	7	0	1	2	1	0	0	2	1	3	1	3	1	2	4	1	1	2	9	6	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.2536C>A	p.His846Asn	p.H846N	ENST00000601693	4/4	402	280	122	212	212	0	strelka-varscan-mutect	ZNF729,missense_variant,p.His846Asn,ENST00000601693,NM_001242680.1;	A	ENST00000601693	Transcript	missense_variant	2654/3877	2536/3759	846/1252	H/N	Cat/Aat		1		1	ZNF729	HGNC	HGNC:32464	protein_coding	YES	CCDS59368.1	ENSP00000469582	A6NN14		UPI000042600C	NM_001242680.1	deleterious(0)		4/4		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	67	22315953	22315953	C	A	1	0	0	0	0	1	0	0	0	18703	826	29	2		2	ZNF729	19	22315953	Missense_Mutation	SNP	C	C3N-01016_TP	1509815	22315953	36301663	347	21916											
ZNF98	0	.	GRCh38	chr19	22402864	22402864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagacaggtgatcaggtCtggcttagaggcagcaatac	11	8	12	10	0	2	3	1	1	1	2	3	3	3	3	1	4	2	3	1	4	3	2			C3N-01016_TP	C3N-01016_NB	C	C																c.178G>T	p.Asp60Tyr	p.D60Y	ENST00000357774	3/4	69	51	18	80	80	0	strelka-mutect	ZNF98,missense_variant,p.Asp60Tyr,ENST00000357774,NM_001098626.1;ZNF98,missense_variant,p.Asp19Tyr,ENST00000593657,;ZNF98,missense_variant,p.Asp60Tyr,ENST00000601553,;ZNF98,downstream_gene_variant,,ENST00000593802,;	A	ENST00000357774	Transcript	missense_variant	300/2338	178/1719	60/572	D/Y	Gac/Tac	COSM1271946,COSM1271947	1		-1	ZNF98	HGNC	HGNC:13174	protein_coding	YES	CCDS46031.1	ENSP00000350418	A6NK75		UPI0000251DC5	NM_001098626.1	deleterious(0.03)		3/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108,SMART_domains:SM00349,Superfamily_domains:0044637											1,1						MODERATE	1	SNV	3		1,1	1										PASS		.	.												A	3	1	67	22402864	22402864	C	A	1	0	0	0	0	1	0	0	0	18796	913	32	2		2	ZNF98	19	22402864	Missense_Mutation	SNP	C	C3N-01016_TP	86911	22402864	36214752	348	21917											
ZNF492	0	.	GRCh38	chr19	22665086	22665086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacataagatgattcatactGgagagaaaccctacaagtgt	16	9	8	8	0	1	3	1	1	0	2	1	5	1	4	1	1	3	0	1	1	5	4			C3N-01016_TP	C3N-01016_NB	G	G																c.1417G>A	p.Gly473Arg	p.G473R	ENST00000456783	4/4	142	89	53	102	102	0	strelka-varscan-mutect	ZNF492,missense_variant,p.Gly473Arg,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	A	ENST00000456783	Transcript	missense_variant	1661/4245	1417/1596	473/531	G/R	Gga/Aga	COSM223983	1		1	ZNF492	HGNC	HGNC:23707	protein_coding	YES	CCDS46032.1	ENSP00000413660	Q9P255		UPI00001C200B	NM_020855.2	deleterious(0.05)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108,Gene3D:3.30.160.60,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		rs745700525	.												A	3	1	67	22665086	22665086	G	A	1	0	0	0	0	1	0	0	0	18516	1349	47	3		3	ZNF492	19	22665086	Missense_Mutation	SNP	G	C3N-01016_TP	262222	22665086	35952530	349	21918											
TSHZ3	0	.	GRCh38	chr19	31278146	31278146	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttggtaggcggcatggatGctgggatagcccccccagct	7	8	15	11	1	0	0	0	0	0	0	0	2	0	2	3	5	3	5	3	5	2	3	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1647C>G	p.Ser549Arg	p.S549R	ENST00000240587	2/2	196	118	78	192	192	0	strelka-varscan-mutect	TSHZ3,missense_variant,p.Ser549Arg,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;	C	ENST00000240587	Transcript	missense_variant	1975/5176	1647/3246	549/1081	S/R	agC/agG		1		-1	TSHZ3	HGNC	HGNC:30700	protein_coding	YES	CCDS12421.2	ENSP00000240587	Q63HK5		UPI0000202000	NM_020856.2	deleterious(0)		2/2		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	67	31278146	31278146	G	C	1	0	0	0	0	1	0	0	0	17130	1310	46	4		4	TSHZ3	19	31278146	Missense_Mutation	SNP	G	C3N-01016_TP	8613060	31278146	27339470	350	21919											
UPK1A	0	.	GRCh38	chr19	35668534	35668534	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccactgatgggagtctcAggcaaggatgacgtcttcgc	9	9	12	11	2	2	2	1	2	2	0	4	4	2	4	1	3	1	1	1	3	2	2	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.165A>T	p.=	p.S55S	ENST00000616789	3/9	408	246	162	400	400	0	strelka-varscan-mutect	UPK1A,synonymous_variant,p.=,ENST00000616789,NM_001281443.1;UPK1A,synonymous_variant,p.=,ENST00000617999,NM_007000.3;UPK1A,synonymous_variant,p.=,ENST00000222275,;UPK1A,synonymous_variant,p.=,ENST00000379013,;UPK1A-AS1,non_coding_transcript_exon_variant,,ENST00000443196,;	T	ENST00000616789	Transcript	synonymous_variant	192/1366	165/822	55/273	S	tcA/tcT		1		1	UPK1A	HGNC	HGNC:12577	protein_coding	YES	CCDS62640.1	ENSP00000478942	O00322		UPI00005C40C1	NM_001281443.1			3/9		Pfam_domain:PF00335,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF25																	LOW		SNV	5			1										PASS		.	.												T	2	4	67	35668534	35668534	A	T	1	0	0	0	0	0	0	0	1	17533	175	7	4		4	UPK1A	19	35668534	Silent	SNP	A	C3N-01016_TP	4390388	35668534	22949082	351	21920											
ZFP82	0	.	GRCh38	chr19	36393157	36393157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttccagcattccttacattCgtaaggtttttcaccagtat	9	17	5	10	1	1	0	1	0	0	0	4	0	3	0	3	1	2	4	3	1	3	8	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1183G>C	p.Glu395Gln	p.E395Q	ENST00000392161	5/5	180	157	23	116	116	0	strelka-varscan-mutect	ZFP82,missense_variant,p.Glu395Gln,ENST00000392161,NM_133466.2;ZFP82,intron_variant,,ENST00000445543,;ZFP82,non_coding_transcript_exon_variant,,ENST00000590993,;	G	ENST00000392161	Transcript	missense_variant	1426/2623	1183/1599	395/532	E/Q	Gaa/Caa		1		-1	ZFP82	HGNC	HGNC:28682	protein_coding	YES	CCDS12493.1	ENSP00000431265	Q8N141	D3Y299	UPI0000071159	NM_133466.2	deleterious(0.04)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF252,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1292048626	.												G	3	3	67	36393157	36393157	C	G	1	0	0	0	0	1	0	0	0	18230	893	31	4		4	ZFP82	19	36393157	Missense_Mutation	SNP	C	C3N-01016_TP	724623	36393157	22224459	352	21921											
RASGRP4	0	.	GRCh38	chr19	38420184	38420184	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttgccctcccgggccacGgtggcccagaaacgacctat	8	6	12	15	3	0	1	0	0	0	1	1	3	1	1	5	3	2	1	5	3	2	2			C3N-01016_TP	C3N-01016_NB	G	G																c.456C>T	p.=	p.T152T	ENST00000615439	5/17	123	71	52	153	153	0	strelka-varscan-mutect	RASGRP4,synonymous_variant,p.=,ENST00000618320,;RASGRP4,synonymous_variant,p.=,ENST00000615439,NM_170604.2;RASGRP4,synonymous_variant,p.=,ENST00000454404,NM_001146205.1;RASGRP4,synonymous_variant,p.=,ENST00000586305,NM_001146202.1;RASGRP4,synonymous_variant,p.=,ENST00000587753,NM_001146204.1;RASGRP4,synonymous_variant,p.=,ENST00000614135,;RASGRP4,synonymous_variant,p.=,ENST00000433821,NM_001146203.1;RASGRP4,synonymous_variant,p.=,ENST00000617966,;RASGRP4,synonymous_variant,p.=,ENST00000293062,NM_001146207.1;RASGRP4,synonymous_variant,p.=,ENST00000622174,;RASGRP4,synonymous_variant,p.=,ENST00000426920,NM_001146206.1;RASGRP4,synonymous_variant,p.=,ENST00000587738,;RASGRP4,synonymous_variant,p.=,ENST00000589358,;RASGRP4,synonymous_variant,p.=,ENST00000589474,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000615340,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000592322,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588404,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000589100,;RASGRP4,upstream_gene_variant,,ENST00000588708,;	A	ENST00000615439	Transcript	synonymous_variant	670/3217	456/2022	152/673	T	acC/acT	COSM1481006,COSM5538038	1		-1	RASGRP4	HGNC	HGNC:18958	protein_coding	YES	CCDS46068.1	ENSP00000479844	Q8TDF6		UPI0000050F40	NM_170604.2			5/17		PROSITE_profiles:PS50212,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF157,Gene3D:2ii0A01,Superfamily_domains:0041591											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1048545329	.												A	2	1	67	38420184	38420184	G	A	1	0	0	0	0	0	0	0	1	13238	1103	39	1		1	RASGRP4	19	38420184	Silent	SNP	G	C3N-01016_TP	2027027	38420184	20197432	353	21922											
LRFN1	0	.	GRCh38	chr19	39308317	39308317	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aagacgaggaccgaggcgacGatgacgcccccgatggcgat	11	3	15	12	7	0	2	0	1	0	1	0	9	0	3	3	3	0	0	3	3	1	0			C3N-01016_TP	C3N-01016_NB	G	G																c.1632C>G	p.Ile544Met	p.I544M	ENST00000248668	2/2	281	252	29	283	283	0	strelka-varscan-mutect	LRFN1,missense_variant,p.Ile544Met,ENST00000248668,NM_020862.1;	C	ENST00000248668	Transcript	missense_variant	1632/3381	1632/2316	544/771	I/M	atC/atG	COSM5309579,COSM5309580	1		-1	LRFN1	HGNC	HGNC:29290	protein_coding	YES	CCDS46071.1	ENSP00000248668	Q9P244		UPI00001A5C55	NM_020862.1	deleterious(0)		2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF34,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	67	39308317	39308317	G	C	1	0	0	0	0	1	0	0	0	8831	1048	37	4		4	LRFN1	19	39308317	Missense_Mutation	SNP	G	C3N-01016_TP	888133	39308317	19309299	354	21923											
AKT2	0	.	GRCh38	chr19	40240079	40240079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtgttctggaggaccCggctctcggtgactgtgtga	4	11	16	10	2	2	2	0	2	2	0	3	4	2	4	2	5	0	2	2	5	0	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.605G>T	p.Arg202Leu	p.R202L	ENST00000392038	7/14	544	484	60	507	507	0	strelka-varscan-mutect	AKT2,missense_variant,p.Arg202Leu,ENST00000392038,NM_001626.5;AKT2,missense_variant,p.Arg202Leu,ENST00000424901,;AKT2,missense_variant,p.Arg140Leu,ENST00000579047,NM_001243027.2,NM_001243028.2;AKT2,missense_variant,p.Arg202Leu,ENST00000311278,;AKT2,intron_variant,,ENST00000578615,;AKT2,intron_variant,,ENST00000578310,;AKT2,downstream_gene_variant,,ENST00000416362,;AKT2,downstream_gene_variant,,ENST00000441941,;AKT2,downstream_gene_variant,,ENST00000423127,;AKT2,downstream_gene_variant,,ENST00000392037,;AKT2,downstream_gene_variant,,ENST00000486368,;AKT2,downstream_gene_variant,,ENST00000596634,;AKT2,downstream_gene_variant,,ENST00000456441,;AKT2,downstream_gene_variant,,ENST00000452077,;AKT2,downstream_gene_variant,,ENST00000583859,;AKT2,downstream_gene_variant,,ENST00000578123,;AKT2,downstream_gene_variant,,ENST00000358335,;AKT2,upstream_gene_variant,,ENST00000476247,;AKT2,upstream_gene_variant,,ENST00000497948,;AKT2,non_coding_transcript_exon_variant,,ENST00000391845,;AKT2,non_coding_transcript_exon_variant,,ENST00000480878,;AKT2,upstream_gene_variant,,ENST00000486647,;AKT2,missense_variant,p.Gly117Trp,ENST00000601166,;AKT2,3_prime_UTR_variant,,ENST00000391844,;AKT2,3_prime_UTR_variant,,ENST00000584288,;AKT2,3_prime_UTR_variant,,ENST00000492463,;AKT2,3_prime_UTR_variant,,ENST00000491778,;AKT2,non_coding_transcript_exon_variant,,ENST00000476266,;AKT2,non_coding_transcript_exon_variant,,ENST00000537834,;AKT2,upstream_gene_variant,,ENST00000483166,;AKT2,downstream_gene_variant,,ENST00000578975,;AKT2,upstream_gene_variant,,ENST00000496089,;AKT2,downstream_gene_variant,,ENST00000487537,;AKT2,upstream_gene_variant,,ENST00000489375,;AKT2,upstream_gene_variant,,ENST00000580878,;AKT2,upstream_gene_variant,,ENST00000579345,;AKT2,upstream_gene_variant,,ENST00000578282,;	A	ENST00000392038	Transcript	missense_variant	904/5300	605/1446	202/481	R/L	cGg/cTg		1		-1	AKT2	HGNC	HGNC:392	protein_coding	YES	CCDS12552.1	ENSP00000375892	P31751		UPI0000049EDB	NM_001626.5	deleterious(0.02)		7/14		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF176,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	40240079	40240079	C	A	1	0	0	0	0	1	0	0	0	563	652	23	1		1	AKT2	19	40240079	Missense_Mutation	SNP	C	C3N-01016_TP	931762	40240079	18377537	355	21924											
PNMAL1	0	.	GRCh38	chr19	46470040	46470040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttggtctgactcagaGgcgcctcctgggctctcggc	4	10	12	15	2	4	2	1	1	3	1	6	2	5	2	3	4	0	1	3	4	0	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.996C>T	p.=	p.A332A	ENST00000313683	2/3	69	27	42	44	44	0	strelka-varscan-mutect	PNMAL1,synonymous_variant,p.=,ENST00000313683,NM_018215.3;PNMAL1,synonymous_variant,p.=,ENST00000438932,NM_001103149.1;PNMAL1,intron_variant,,ENST00000602246,;	A	ENST00000313683	Transcript	synonymous_variant	1302/3689	996/1320	332/439	A	gcC/gcT		1		-1	PNMAL1	HGNC	HGNC:25578	protein_coding	YES	CCDS33059.1	ENSP00000318131	Q86V59		UPI0000231C97	NM_018215.3			2/3		hmmpanther:PTHR23095:SF21,hmmpanther:PTHR23095,Pfam_domain:PF14893																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	67	46470040	46470040	G	A	1	0	0	0	0	0	0	0	1	12265	987	35	3		3	PNMAL1	19	46470040	Silent	SNP	G	C3N-01016_TP	6229961	46470040	12147576	356	21925											
SYNGR4	0	.	GRCh38	chr19	48365890	48365890	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccaacagcgaagccgtGcagtttctgagaaggcccaa	11	6	12	12	2	1	1	0	1	1	1	1	3	1	1	3	2	4	2	3	2	4	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.48G>A	p.=	p.V16V	ENST00000344846	2/5	267	149	118	280	280	0	strelka-varscan-mutect	SYNGR4,synonymous_variant,p.=,ENST00000344846,NM_012451.3;TMEM143,upstream_gene_variant,,ENST00000293261,NM_001303539.1,NM_018273.3;TMEM143,upstream_gene_variant,,ENST00000435956,NM_001303538.1;TMEM143,upstream_gene_variant,,ENST00000377431,NM_001303540.1;TMEM143,upstream_gene_variant,,ENST00000601522,;TMEM143,upstream_gene_variant,,ENST00000598926,;TMEM143,upstream_gene_variant,,ENST00000598012,;TMEM143,upstream_gene_variant,,ENST00000598258,;TMEM143,upstream_gene_variant,,ENST00000595720,;TMEM143,upstream_gene_variant,,ENST00000601332,;TMEM143,upstream_gene_variant,,ENST00000597370,;TMEM143,upstream_gene_variant,,ENST00000593914,;TMEM143,upstream_gene_variant,,ENST00000599220,;	A	ENST00000344846	Transcript	synonymous_variant	298/1000	48/705	16/234	V	gtG/gtA		1		1	SYNGR4	HGNC	HGNC:11502	protein_coding	YES	CCDS12717.1	ENSP00000344041	O95473	A0A140VKF5	UPI000013C7EB	NM_012451.3			2/5		hmmpanther:PTHR10838:SF22,hmmpanther:PTHR10838,PIRSF_domain:PIRSF011282																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	67	48365890	48365890	G	A	1	0	0	0	0	0	0	0	1	15845	1306	46	3		3	SYNGR4	19	48365890	Silent	SNP	G	C3N-01016_TP	1895850	48365890	10251726	357	21926											
CD37	0	.	GRCh38	chr19	49337218	49337218	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatctccactcagcgggcCcaggtgagcttcctgcagtg	6	9	11	15	1	3	1	2	1	1	0	5	1	4	1	3	2	3	2	3	2	0	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.339C>T	p.=	p.A113A	ENST00000323906	4/8	179	94	85	179	178	1	strelka-varscan-mutect	CD37,synonymous_variant,p.=,ENST00000535669,;CD37,synonymous_variant,p.=,ENST00000598095,;CD37,synonymous_variant,p.=,ENST00000323906,NM_001774.2;CD37,synonymous_variant,p.=,ENST00000426897,NM_001040031.1;CD37,synonymous_variant,p.=,ENST00000594743,;TEAD2,downstream_gene_variant,,ENST00000377214,;TEAD2,downstream_gene_variant,,ENST00000598810,NM_001256661.1;TEAD2,downstream_gene_variant,,ENST00000601519,NM_001256659.1,NM_001256658.1;TEAD2,downstream_gene_variant,,ENST00000311227,NM_003598.1;TEAD2,downstream_gene_variant,,ENST00000593945,NM_001256660.1;TEAD2,downstream_gene_variant,,ENST00000539846,NM_001256662.1;CD37,downstream_gene_variant,,ENST00000595660,;CD37,downstream_gene_variant,,ENST00000597602,;CTC-301O7.4,intron_variant,,ENST00000358234,;CTC-301O7.4,intron_variant,,ENST00000602554,;CD37,non_coding_transcript_exon_variant,,ENST00000596426,;CD37,non_coding_transcript_exon_variant,,ENST00000597033,;CD37,upstream_gene_variant,,ENST00000600121,;CD37,missense_variant,p.Pro112Leu,ENST00000595725,;CD37,synonymous_variant,p.=,ENST00000391859,;CD37,non_coding_transcript_exon_variant,,ENST00000597852,;CD37,non_coding_transcript_exon_variant,,ENST00000593512,;CD37,non_coding_transcript_exon_variant,,ENST00000598134,;	T	ENST00000323906	Transcript	synonymous_variant	480/1265	339/846	113/281	A	gcC/gcT		1		1	CD37	HGNC	HGNC:1666	protein_coding	YES	CCDS12760.1	ENSP00000325708	P11049		UPI0000127350	NM_001774.2			4/8		Superfamily_domains:0037997,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF263																	LOW	1	SNV	1			1										PASS		rs1282377025	.												T	2	4	67	49337218	49337218	C	T	1	0	0	0	0	0	0	0	1	2712	637	22	3		3	CD37	19	49337218	Silent	SNP	C	C3N-01016_TP	971328	49337218	9280398	358	21927											
ALDH16A1	0	.	GRCh38	chr19	49463852	49463852	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctagatcatttctctccctAggtgttccaggctggtgatg	6	15	10	10	0	3	2	1	1	2	1	6	2	5	2	2	3	0	2	2	3	2	4	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.1099-2A>G		p.X367_splice	ENST00000293350		72	38	34	72	72	0	strelka-varscan-mutect	ALDH16A1,splice_acceptor_variant,,ENST00000293350,NM_153329.3;ALDH16A1,splice_acceptor_variant,,ENST00000455361,NM_001145396.1;ALDH16A1,splice_acceptor_variant,,ENST00000540132,;ALDH16A1,downstream_gene_variant,,ENST00000598015,;ALDH16A1,splice_acceptor_variant,,ENST00000599652,;ALDH16A1,splice_acceptor_variant,,ENST00000593417,;CTD-3148I10.9,splice_acceptor_variant,,ENST00000599536,;ALDH16A1,upstream_gene_variant,,ENST00000600265,;ALDH16A1,upstream_gene_variant,,ENST00000594549,;	G	ENST00000293350	Transcript	splice_acceptor_variant	-/3153	1099/2409	367/802				1		1	ALDH16A1	HGNC	HGNC:28114	protein_coding	YES	CCDS12766.1	ENSP00000293350	Q8IZ83		UPI000013E0FF	NM_153329.3				8/16																		HIGH	1	SNV	1			1										PASS		rs1194117017	.												G	5	3	67	49463852	49463852	A	G	1	0	0	0	0	0	0	1	0	588	434	15	5		5	ALDH16A1	19	49463852	Splice_Site	SNP	A	C3N-01016_TP	126634	49463852	9153764	359	21928											
LILRB5	0	.	GRCh38	chr19	54256158	54256158	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggggtcacgggacccacaggGaacagggcctgggatggccc	8	3	18	12	1	1	0	1	0	0	0	1	3	1	3	3	7	1	0	3	7	1	0			C3N-01016_TP	C3N-01016_NB	G	G																c.540C>G	p.Phe180Leu	p.F180L	ENST00000449561	4/13	97	92	5	129	129	0	strelka-varscan-mutect	LILRB5,missense_variant,p.Phe180Leu,ENST00000316219,NM_006840.4;LILRB5,missense_variant,p.Phe180Leu,ENST00000449561,NM_001081442.2,NM_001304457.1;LILRB5,intron_variant,,ENST00000345866,NM_001081443.2;LILRB5,non_coding_transcript_exon_variant,,ENST00000615654,;LILRB5,intron_variant,,ENST00000621581,;	C	ENST00000449561	Transcript	missense_variant	611/2137	540/1776	180/591	F/L	ttC/ttG	COSM4499356	1		-1	LILRB5	HGNC	HGNC:6609	protein_coding	YES	CCDS46176.1	ENSP00000406478	O75023		UPI00034F239B	NM_001081442.2,NM_001304457.1	tolerated(0.06)		4/13		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF108,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		rs1332838508	.												C	3	2	67	54256158	54256158	G	C	1	0	0	0	0	1	0	0	0	8702	1165	41	4		4	LILRB5	19	54256158	Missense_Mutation	SNP	G	C3N-01016_TP	4792306	54256158	4361458	360	21929											
LILRB5	0	.	GRCh38	chr19	54256666	54256666	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggagtccctccttatccaGacggtactcctcagtctcca	7	11	8	15	1	2	1	1	0	1	1	7	2	6	2	5	2	1	1	5	2	2	2	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.178C>T	p.=	p.L60L	ENST00000449561	3/13	342	320	22	327	326	1	strelka-varscan-mutect	LILRB5,synonymous_variant,p.=,ENST00000316219,NM_006840.4;LILRB5,synonymous_variant,p.=,ENST00000449561,NM_001081442.2,NM_001304457.1;LILRB5,synonymous_variant,p.=,ENST00000345866,NM_001081443.2;LILRB5,non_coding_transcript_exon_variant,,ENST00000621581,;LILRB5,intron_variant,,ENST00000615654,;	A	ENST00000449561	Transcript	synonymous_variant	249/2137	178/1776	60/591	L	Ctg/Ttg		1		-1	LILRB5	HGNC	HGNC:6609	protein_coding	YES	CCDS46176.1	ENSP00000406478	O75023		UPI00034F239B	NM_001081442.2,NM_001304457.1			3/13		PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF108,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs950462921	.												A	2	1	67	54256666	54256666	G	A	1	0	0	0	0	0	0	0	1	8702	933	33	3		3	LILRB5	19	54256666	Silent	SNP	G	C3N-01016_TP	508	54256666	4360950	361	21930											
PTPRH	0	.	GRCh38	chr19	55185865	55185865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggctggacacacgcacctgGaggagcagcagttcccgcac	9	4	14	14	2	0	0	0	0	0	0	1	3	1	3	2	4	2	6	2	4	0	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.2898C>T	p.=	p.L966L	ENST00000376350	17/20	165	80	85	190	190	0	strelka-varscan-mutect	PTPRH,synonymous_variant,p.=,ENST00000376350,NM_002842.4;PTPRH,synonymous_variant,p.=,ENST00000263434,NM_001161440.2;	A	ENST00000376350	Transcript	synonymous_variant	2921/3877	2898/3348	966/1115	L	ctC/ctT		1		-1	PTPRH	HGNC	HGNC:9672	protein_coding	YES	CCDS33110.1	ENSP00000365528	Q9HD43		UPI000052D443	NM_002842.4			17/20		Low_complexity_(Seg):seg,PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF297,hmmpanther:PTHR19134,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00194,Superfamily_domains:SSF52799																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	67	55185865	55185865	G	A	1	0	0	0	0	0	0	0	1	12957	1188	41	3		3	PTPRH	19	55185865	Silent	SNP	G	C3N-01016_TP	929199	55185865	3431751	362	21931											
NLRP8	0	.	GRCh38	chr19	55955206	55955206	+	Frame_Shift_Del	DEL	C	C	-																															agaccaagtcttgagtttcgCcatggaaaacaccattctct																								rs775679678		C3N-01016_TP	C3N-01016_NB	C	C																c.1149delC	p.Met384TrpfsTer23	p.M384Wfs*23	ENST00000291971	3/10	137	71	66	155	155	0	sindel-varindel-pindel	NLRP8,frameshift_variant,p.Met384TrpfsTer23,ENST00000291971,NM_176811.2;NLRP8,frameshift_variant,p.Met384TrpfsTer23,ENST00000590542,;	-	ENST00000291971	Transcript	frameshift_variant	1219/3934	1148/3147	383/1048	A/X	gCc/gc	rs775679678	1		1	NLRP8	HGNC	HGNC:22940	protein_coding	YES	CCDS12937.1	ENSP00000291971	Q86W28		UPI00001BB3C9	NM_176811.2			3/10		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF54																	HIGH	1	deletion	2	1		1										PASS		.	.												-	7	5	67	55955206	55955206	C	-	1	0	1	0	1	0	0	0	0	10521	739	26	0		0	NLRP8	19	55955206	Frame_Shift_Del	DEL	C	C3N-01016_TP	769341	55955206	2662410	363	21932											
ZNF135	0	.	GRCh38	chr19	58066945	58066945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcacgcctgtgaagaCgcctgttctggagcagtggc	6	9	14	12	2	2	2	1	1	1	1	2	3	2	3	3	3	1	2	3	3	1	2	rs746765542		C3N-01016_TP	C3N-01016_NB	C	C																c.533C>G	p.Thr178Arg	p.T178R	ENST00000401053	4/4	242	148	94	223	223	0	strelka-varscan-mutect	ZNF135,missense_variant,p.Thr112Arg,ENST00000506786,NM_001289402.1;ZNF135,missense_variant,p.Thr178Arg,ENST00000401053,NM_001164529.1,NM_007134.1;ZNF135,missense_variant,p.Thr154Arg,ENST00000313434,NM_001289401.1;ZNF135,missense_variant,p.Thr166Arg,ENST00000511556,NM_003436.3;ZNF135,missense_variant,p.Thr166Arg,ENST00000359978,NM_001164530.1;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;	G	ENST00000401053	Transcript	missense_variant	536/3346	533/2049	178/682	T/R	aCg/aGg	rs746765542,COSM2156527,COSM2156528,COSM714103,COSM714104	1		1	ZNF135	HGNC	HGNC:12919	protein_coding	YES	CCDS54329.1	ENSP00000441410	P52742		UPI0001B3CB2A	NM_001164529.1,NM_007134.1	tolerated(0.06)		4/4													0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs746765542	.												G	3	3	67	58066945	58066945	C	G	1	0	0	0	0	1	0	0	0	18306	536	19	4		4	ZNF135	19	58066945	Missense_Mutation	SNP	C	C3N-01016_TP	2111739	58066945	550671	364	21933											
SIRPG	0	.	GRCh38	chr20	1649182	1649182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgcggatggaaaagtcCatgttgtttctctttgtgag	8	15	12	6	1	1	2	0	2	1	0	3	4	2	4	1	2	1	2	1	2	2	3	rs527643862		C3N-01016_TP	C3N-01016_NB	C	C																c.300G>A	p.Met100Ile	p.M100I	ENST00000303415	2/6	462	313	149	352	352	0	strelka-varscan-mutect	SIRPG,missense_variant,p.Met67Ile,ENST00000381580,;SIRPG,missense_variant,p.Met100Ile,ENST00000303415,NM_018556.3;SIRPG,missense_variant,p.Met100Ile,ENST00000381583,NM_001039508.1;SIRPG,missense_variant,p.Met100Ile,ENST00000344103,NM_080816.2;SIRPG,missense_variant,p.Met100Ile,ENST00000216927,;SIRPG-AS1,downstream_gene_variant,,ENST00000456177,;	T	ENST00000303415	Transcript	missense_variant	365/1716	300/1164	100/387	M/I	atG/atA	rs527643862,COSM4541471	1		-1	SIRPG	HGNC	HGNC:15757	protein_coding	YES	CCDS13020.2	ENSP00000305529	Q9P1W8		UPI00001AE5FD	NM_018556.3	tolerated(0.06)		2/6		PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF6,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs527643862	.												T	3	4	67	1649182	1649182	C	T	1	0	0	0	0	1	0	0	0	14599	594	21	3		3	SIRPG	20	1649182	Missense_Mutation	SNP	C	C3N-01016_TP		1649182	62794985	365	21934											
TMC2	0	.	GRCh38	chr20	2613204	2613204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgcaggaattcatgaGgctgacggtgtctgacatgc	8	11	12	10	1	3	3	1	3	2	0	4	4	4	4	1	3	2	2	1	3	1	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.1754G>T	p.Arg585Met	p.R585M	ENST00000358864	14/20	170	124	46	94	94	0	strelka-varscan-mutect	TMC2,missense_variant,p.Arg585Met,ENST00000358864,NM_080751.2;TMC2,non_coding_transcript_exon_variant,,ENST00000496948,;	T	ENST00000358864	Transcript	missense_variant	1769/3169	1754/2721	585/906	R/M	aGg/aTg		1		1	TMC2	HGNC	HGNC:16527	protein_coding	YES	CCDS13029.2	ENSP00000351732	Q8TDI7		UPI0000246C98	NM_080751.2	deleterious(0)		14/20		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF17,Pfam_domain:PF07810																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	2613204	2613204	G	T	1	0	0	0	0	1	0	0	0	16431	1000	35	2		2	TMC2	20	2613204	Missense_Mutation	SNP	G	C3N-01016_TP	964022	2613204	61830963	366	21935											
ADAM33	0	.	GRCh38	chr20	3677076	3677076	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcactcactggttcttcTccagctcaagcaggagctcc	7	10	9	15	0	4	0	2	0	2	0	6	1	5	1	2	3	3	5	2	3	1	2	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.245A>T	p.Glu82Val	p.E82V	ENST00000356518	3/22	198	175	23	167	167	0	strelka-varscan-mutect	ADAM33,missense_variant,p.Glu82Val,ENST00000356518,NM_025220.3;ADAM33,missense_variant,p.Glu82Val,ENST00000379861,NM_001282447.1;ADAM33,missense_variant,p.Glu82Val,ENST00000350009,NM_153202.2;ADAM33,missense_variant,p.Glu82Val,ENST00000619289,;ADAM33,missense_variant,p.Glu82Val,ENST00000617732,;ADAM33,upstream_gene_variant,,ENST00000466620,;	A	ENST00000356518	Transcript	missense_variant	487/3677	245/2442	82/813	E/V	gAg/gTg		1		-1	ADAM33	HGNC	HGNC:15478	protein_coding	YES	CCDS13058.1	ENSP00000348912	Q9BZ11		UPI0000048F2A	NM_025220.3	deleterious(0.01)		3/22		Low_complexity_(Seg):seg,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF38,Pfam_domain:PF01562																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	3677076	3677076	T	A	1	0	0	0	0	1	0	0	0	294	1551	54	4		4	ADAM33	20	3677076	Missense_Mutation	SNP	T	C3N-01016_TP	1063872	3677076	60767091	367	21936											
PLCB1	0	.	GRCh38	chr20	8628422	8628422	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcgtggctttccaagaagaAgtggccaaggtatggtggat	10	10	14	7	1	0	2	0	0	0	2	2	3	1	3	2	5	0	2	2	5	5	2	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.375A>T	p.Glu125Asp	p.E125D	ENST00000338037	4/32	216	156	60	147	147	0	strelka-varscan-mutect	PLCB1,missense_variant,p.Glu125Asp,ENST00000378641,NM_182734.2;PLCB1,missense_variant,p.Glu125Asp,ENST00000338037,NM_015192.3;PLCB1,missense_variant,p.Glu45Asp,ENST00000612075,;PLCB1,missense_variant,p.Glu45Asp,ENST00000617005,;PLCB1,missense_variant,p.Glu24Asp,ENST00000637919,;PLCB1,missense_variant,p.Glu125Asp,ENST00000378637,;PLCB1,missense_variant,p.Glu24Asp,ENST00000625874,;PLCB1,missense_variant,p.Glu125Asp,ENST00000629992,;PLCB1,missense_variant,p.Glu24Asp,ENST00000626966,;PLCB1,missense_variant,p.Glu125Asp,ENST00000404098,;PLCB1,missense_variant,p.Glu24Asp,ENST00000630495,;PLCB1,non_coding_transcript_exon_variant,,ENST00000635830,;PLCB1,non_coding_transcript_exon_variant,,ENST00000636825,;PLCB1,non_coding_transcript_exon_variant,,ENST00000628900,;PLCB1,downstream_gene_variant,,ENST00000635850,;PLCB1,downstream_gene_variant,,ENST00000636784,;PLCB1,downstream_gene_variant,,ENST00000637000,;PLCB1,missense_variant,p.Glu125Asp,ENST00000636319,;PLCB1,non_coding_transcript_exon_variant,,ENST00000626161,;PLCB1,non_coding_transcript_exon_variant,,ENST00000626114,;	T	ENST00000338037	Transcript	missense_variant	762/7092	375/3651	125/1216	E/D	gaA/gaT		1		1	PLCB1	HGNC	HGNC:15917	protein_coding	YES	CCDS13102.1	ENSP00000338185	Q9NQ66		UPI0000131A8F	NM_015192.3	tolerated(1)		4/32		hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	8628422	8628422	A	T	1	0	0	0	0	1	0	0	0	12121	69	3	4		4	PLCB1	20	8628422	Missense_Mutation	SNP	A	C3N-01016_TP	4951346	8628422	55815745	368	21937											
PCSK2	0	.	GRCh38	chr20	17360577	17360577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggccttgatttgaatGtggctgaagcctgggagctg	6	12	14	9	0	0	3	0	3	0	0	1	4	1	4	3	3	2	2	3	3	2	2	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.442G>T	p.Val148Leu	p.V148L	ENST00000262545	4/12	225	151	74	175	175	0	strelka-varscan-mutect	PCSK2,missense_variant,p.Val148Leu,ENST00000262545,NM_002594.4;PCSK2,missense_variant,p.Val129Leu,ENST00000377899,NM_001201528.1;PCSK2,missense_variant,p.Val113Leu,ENST00000536609,NM_001201529.2;PCSK2,non_coding_transcript_exon_variant,,ENST00000470007,;	T	ENST00000262545	Transcript	missense_variant	757/4740	442/1917	148/638	V/L	Gtg/Ttg		1		1	PCSK2	HGNC	HGNC:8744	protein_coding	YES	CCDS13125.1	ENSP00000262545	P16519		UPI0000000C6E	NM_002594.4	deleterious(0)		4/12		Gene3D:3.40.50.200,hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF11,Superfamily_domains:SSF52743																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	17360577	17360577	G	T	1	0	0	0	0	1	0	0	0	11689	1377	48	2		2	PCSK2	20	17360577	Missense_Mutation	SNP	G	C3N-01016_TP	8732155	17360577	47083590	369	21938											
PTPRT	0	.	GRCh38	chr20	42085743	42085743	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccgggccatgttacaGatgcggaatattctgtggat	9	12	11	9	2	1	1	0	0	1	1	1	3	1	3	2	3	3	1	2	3	4	4	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.4014C>A	p.=	p.I1338I	ENST00000373198	29/32	208	148	60	195	195	0	strelka-varscan-mutect	PTPRT,synonymous_variant,p.=,ENST00000373198,NM_133170.3;PTPRT,synonymous_variant,p.=,ENST00000373193,;PTPRT,synonymous_variant,p.=,ENST00000373201,;PTPRT,synonymous_variant,p.=,ENST00000373190,;PTPRT,synonymous_variant,p.=,ENST00000373184,;PTPRT,synonymous_variant,p.=,ENST00000356100,;PTPRT,synonymous_variant,p.=,ENST00000373187,NM_007050.5;PTPRT,synonymous_variant,p.=,ENST00000612229,;PTPRT,synonymous_variant,p.=,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	T	ENST00000373198	Transcript	synonymous_variant	4250/12746	4014/4383	1338/1460	I	atC/atA		1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3			29/32		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,SMART_domains:SM00194,Superfamily_domains:SSF52799																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	67	42085743	42085743	G	T	1	0	0	0	0	0	0	0	1	12967	932	33	2		2	PTPRT	20	42085743	Silent	SNP	G	C3N-01016_TP	24725166	42085743	22358424	370	21939											
ZMYND8	0	.	GRCh38	chr20	47238808	47238808	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgggaagactgaggcTgctgctgctggttttgctgc	4	12	14	11	0	0	2	0	1	0	1	1	3	1	3	2	3	5	6	2	3	1	2	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.2615A>T	p.Gln872Leu	p.Q872L	ENST00000471951	15/23	159	135	24	106	106	0	strelka-mutect	ZMYND8,missense_variant,p.Gln852Leu,ENST00000355972,NM_001281773.2;ZMYND8,missense_variant,p.Gln852Leu,ENST00000396281,NM_001281772.2;ZMYND8,missense_variant,p.Gln852Leu,ENST00000446994,;ZMYND8,missense_variant,p.Gln852Leu,ENST00000311275,;ZMYND8,missense_variant,p.Gln879Leu,ENST00000536340,;ZMYND8,missense_variant,p.Gln872Leu,ENST00000471951,NM_001281775.2,NM_001281776.2;ZMYND8,missense_variant,p.Gln800Leu,ENST00000540497,NM_001281781.2,NM_001281784.2;ZMYND8,intron_variant,,ENST00000372023,NM_001281779.2,NM_001281780.2;ZMYND8,intron_variant,,ENST00000611941,;ZMYND8,intron_variant,,ENST00000360911,NM_183048.3,NM_001281778.2;ZMYND8,intron_variant,,ENST00000262975,NM_001281774.2;ZMYND8,intron_variant,,ENST00000619049,;ZMYND8,intron_variant,,ENST00000352431,NM_012408.5,NM_001281783.2;ZMYND8,intron_variant,,ENST00000458360,NM_001281771.2;ZMYND8,intron_variant,,ENST00000467200,;ZMYND8,intron_variant,,ENST00000461685,NM_001281777.2,NM_183047.3;ZMYND8,intron_variant,,ENST00000617418,NM_001281782.2;ZMYND8,non_coding_transcript_exon_variant,,ENST00000468376,;	A	ENST00000471951	Transcript	missense_variant	2642/4053	2615/3705	872/1234	Q/L	cAg/cTg		1		-1	ZMYND8	HGNC	HGNC:9397	protein_coding	YES	CCDS63306.1	ENSP00000420095	Q9ULU4		UPI0000695D9A	NM_001281775.2,NM_001281776.2	tolerated_low_confidence(0.1)		15/23		hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF13,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	47238808	47238808	T	A	1	0	0	0	0	1	0	0	0	18290	1580	55	4		4	ZMYND8	20	47238808	Missense_Mutation	SNP	T	C3N-01016_TP	5153065	47238808	17205359	371	21940											
SALL4	0	.	GRCh38	chr20	51791459	51791459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaagggctctggaagagcaCcgagcccggggcctgaggaa	11	3	17	10	2	1	2	0	1	1	1	1	6	1	4	3	5	2	2	3	5	3	0	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1024G>T	p.Val342Leu	p.V342L	ENST00000217086	2/4	215	186	29	142	142	0	strelka-varscan-mutect	SALL4,missense_variant,p.Val342Leu,ENST00000217086,NM_020436.3;SALL4,missense_variant,p.Val342Leu,ENST00000395997,;SALL4,intron_variant,,ENST00000371539,;SALL4,downstream_gene_variant,,ENST00000483130,;SALL4,downstream_gene_variant,,ENST00000481363,;	A	ENST00000217086	Transcript	missense_variant	1136/5208	1024/3162	342/1053	V/L	Gtg/Ttg		1		-1	SALL4	HGNC	HGNC:15924	protein_coding	YES	CCDS13438.1	ENSP00000217086	Q9UJQ4		UPI0000135527	NM_020436.3	tolerated(0.12)		2/4		hmmpanther:PTHR23233:SF19,hmmpanther:PTHR23233																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	51791459	51791459	C	A	1	0	0	0	0	1	0	0	0	14072	507	18	2		2	SALL4	20	51791459	Missense_Mutation	SNP	C	C3N-01016_TP	4552651	51791459	12652708	372	21941											
TAF4	0	.	GRCh38	chr20	62065637	62065637	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgctcacaacatggttcccGagcgcgccggcggccgcggc	5	4	14	18	8	1	0	1	0	0	0	2	1	2	0	4	4	2	2	4	4	1	1	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.174C>T	p.=	p.L58L	ENST00000252996	1/15	37	20	17	14	14	0	strelka-varscan-mutect	TAF4,synonymous_variant,p.=,ENST00000252996,NM_003185.3;RP11-11M20.4,upstream_gene_variant,,ENST00000635124,;MIR3195,downstream_gene_variant,,ENST00000585001,;TAF4,upstream_gene_variant,,ENST00000608887,;	A	ENST00000252996	Transcript	synonymous_variant	174/4628	174/3258	58/1085	L	ctC/ctT		1		-1	TAF4	HGNC	HGNC:11537	protein_coding	YES	CCDS33500.1	ENSP00000252996	O00268		UPI000020630A	NM_003185.3			1/15		hmmpanther:PTHR15138:SF18,hmmpanther:PTHR15138																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	67	62065637	62065637	G	A	1	0	0	0	0	0	0	0	1	15922	1045	37	1		1	TAF4	20	62065637	Silent	SNP	G	C3N-01016_TP	10274178	62065637	2378530	373	21942											
CABLES2	0	.	GRCh38	chr20	62393440	62393440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttaaggcacgtgggctacCtagttctgtgctggctggtg	5	12	16	8	1	1	0	0	0	1	0	1	0	1	0	1	5	2	6	1	5	3	4	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.880G>C	p.Gly294Arg	p.G294R	ENST00000279101	6/10	56	36	20	56	56	0	strelka-varscan-mutect	CABLES2,missense_variant,p.Gly294Arg,ENST00000279101,NM_031215.2;CABLES2,missense_variant,p.Gly88Arg,ENST00000453274,;RPS21,downstream_gene_variant,,ENST00000370562,;RPS21,downstream_gene_variant,,ENST00000450116,;RPS21,downstream_gene_variant,,ENST00000343986,NM_001024.3;RPS21,downstream_gene_variant,,ENST00000492356,;	G	ENST00000279101	Transcript	missense_variant,splice_region_variant	889/3785	880/1437	294/478	G/R	Ggg/Cgg		1		-1	CABLES2	HGNC	HGNC:16143	protein_coding	YES	CCDS33503.1	ENSP00000279101	Q9BTV7		UPI00001AEA34	NM_031215.2	deleterious(0.01)		6/10		hmmpanther:PTHR22896,hmmpanther:PTHR22896:SF3																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	67	62393440	62393440	C	G	1	0	0	0	0	1	0	0	0	2216	695	24	4		4	CABLES2	20	62393440	Missense_Mutation	SNP	C	C3N-01016_TP	327803	62393440	2050727	374	21943											
KRTAP10-2	0	.	GRCh38	chr21	44550889	44550889	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatggacttgcagcagacAggcttgcagcagacggacac	12	5	13	11	1	0	3	0	0	0	3	0	5	0	5	0	3	4	5	0	3	0	2	rs76021731		C3N-01016_TP	C3N-01016_NB	A	A																c.570T>C	p.=	p.P190P	ENST00000391621	1/1	114	103	11	178	175	3	varscan-mutect	KRTAP10-2,synonymous_variant,p.=,ENST00000391621,NM_198693.3;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000397916,;KRTAP10-2,intron_variant,,ENST00000498210,;	G	ENST00000391621	Transcript	synonymous_variant	617/1149	570/768	190/255	P	ccT/ccC	rs76021731	1		-1	KRTAP10-2	HGNC	HGNC:22967	protein_coding	YES	CCDS42955.1	ENSP00000375479	P60368		UPI000021C438	NM_198693.3			1/1		Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF8,Low_complexity_(Seg):seg																	LOW		SNV				1										PASS		rs76021731	.												G	2	3	67	44550889	44550889	A	G	1	0	0	0	0	0	0	0	1	8392	175	7	5		5	KRTAP10-2	21	44550889	Silent	SNP	A	C3N-01016_TP		44550889	2159094	375	21944											
CLTCL1	0	.	GRCh38	chr22	19210458	19210458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggctgatgtactccatgacCcgtgtgcggtctgccttgat	5	12	12	12	3	1	3	0	3	1	0	2	3	2	3	3	2	3	2	3	2	1	2			C3N-01016_TP	C3N-01016_NB	C	C																c.3117G>A	p.=	p.R1039R	ENST00000427926	20/33	171	124	47	212	212	0	strelka-varscan-mutect	CLTCL1,synonymous_variant,p.=,ENST00000427926,NM_007098.3;CLTCL1,synonymous_variant,p.=,ENST00000621271,NM_001835.3;CLTCL1,upstream_gene_variant,,ENST00000622493,;CLTCL1,upstream_gene_variant,,ENST00000617926,;CLTCL1,synonymous_variant,p.=,ENST00000617103,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000615606,;CLTCL1,upstream_gene_variant,,ENST00000611723,;	T	ENST00000427926	Transcript	synonymous_variant	3190/5513	3117/4923	1039/1640	R	cgG/cgA	COSM369314	1		-1	CLTCL1	HGNC	HGNC:2093	protein_coding	YES	CCDS46662.2	ENSP00000441158	P53675		UPI0000127ABE	NM_007098.3			20/33		PROSITE_profiles:PS50236,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,Pfam_domain:PF00637,PIRSF_domain:PIRSF002290,SMART_domains:SM00299,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	67	19210458	19210458	C	T	1	0	0	0	0	0	0	0	1	3339	610	22	3		3	CLTCL1	22	19210458	Silent	SNP	C	C3N-01016_TP		19210458	31608010	376	21945											
MYO18B	0	.	GRCh38	chr22	25950378	25950378	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaccagtctgctgctgaCattgggcagatccaagaact	10	10	9	12	0	2	3	1	1	2	2	4	3	3	3	2	1	3	3	2	1	2	1	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.5760C>G	p.Asp1920Glu	p.D1920E	ENST00000335473	37/44	116	92	24	98	98	0	strelka-varscan-mutect	MYO18B,missense_variant,p.Asp1920Glu,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,missense_variant,p.Asp1921Glu,ENST00000407587,;MYO18B,missense_variant,p.Asp1920Glu,ENST00000536101,;MYO18B,upstream_gene_variant,,ENST00000543971,;MYO18B,upstream_gene_variant,,ENST00000539544,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	G	ENST00000335473	Transcript	missense_variant	6010/8565	5760/7704	1920/2567	D/E	gaC/gaG		1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5	tolerated(0.08)		37/44		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF372																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	67	25950378	25950378	C	G	1	0	0	0	0	1	0	0	0	10067	477	17	4		4	MYO18B	22	25950378	Missense_Mutation	SNP	C	C3N-01016_TP	6739920	25950378	24868090	377	21946											
RFPL1	0	.	GRCh38	chr22	29441707	29441707	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctttacctgtggccgccActactgggaggtggacgtgg	5	10	15	11	3	0	0	0	0	0	0	1	2	0	2	3	5	2	1	3	5	2	3	novel		C3N-01016_TP	C3N-01016_NB	A	A																c.539A>T	p.His180Leu	p.H180L	ENST00000354373	2/2	252	203	49	242	242	0	strelka-varscan-mutect	RFPL1,missense_variant,p.His180Leu,ENST00000354373,NM_021026.2;RFPL1S,non_coding_transcript_exon_variant,,ENST00000461286,;RFPL1S,upstream_gene_variant,,ENST00000539579,;AC000041.10,downstream_gene_variant,,ENST00000619824,;	T	ENST00000354373	Transcript	missense_variant	748/1496	539/954	180/317	H/L	cAc/cTc		1		1	RFPL1	HGNC	HGNC:9977	protein_coding	YES	CCDS13857.2	ENSP00000346342	O75677		UPI000013CC65	NM_021026.2	deleterious(0)		2/2		Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF225,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	29441707	29441707	A	T	1	0	0	0	0	1	0	0	0	13424	159	6	4		4	RFPL1	22	29441707	Missense_Mutation	SNP	A	C3N-01016_TP	3491329	29441707	21376761	378	21947											
DEPDC5	0	.	GRCh38	chr22	31876220	31876220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcggaccttcatctacGgcttctatttctacaagata	9	13	7	12	2	4	1	1	0	3	1	4	2	4	2	2	3	2	1	2	3	5	7	rs746114133		C3N-01016_TP	C3N-01016_NB	G	G																c.3760G>T	p.Gly1254Cys	p.G1254C	ENST00000400246	37/43	141	125	16	150	150	0	strelka-varscan-mutect	DEPDC5,missense_variant,p.Gly1254Cys,ENST00000400246,NM_001242896.1;DEPDC5,missense_variant,p.Gly1223Cys,ENST00000400249,;DEPDC5,missense_variant,p.Gly1245Cys,ENST00000382112,NM_001136029.2;DEPDC5,missense_variant,p.Gly1223Cys,ENST00000400248,NM_014662.4;DEPDC5,missense_variant,p.Gly1254Cys,ENST00000382111,;DEPDC5,missense_variant,p.Gly1154Cys,ENST00000535622,NM_001242897.1;DEPDC5,missense_variant,p.Gly630Cys,ENST00000433147,;DEPDC5,downstream_gene_variant,,ENST00000494060,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000479261,;DEPDC5,intron_variant,,ENST00000448753,;	T	ENST00000400246	Transcript	missense_variant	3962/5551	3760/4812	1254/1603	G/C	Ggc/Tgc	rs746114133	1		1	DEPDC5	HGNC	HGNC:18423	protein_coding	YES	CCDS74849.1	ENSP00000383105	O75140		UPI000192C426	NM_001242896.1	deleterious(0)		37/43		PROSITE_profiles:PS50186,hmmpanther:PTHR13179,Gene3D:1.10.10.10,Pfam_domain:PF00610,SMART_domains:SM00049,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		rs746114133	.												T	3	4	67	31876220	31876220	G	T	1	0	0	0	0	1	0	0	0	4248	1116	39	1		1	DEPDC5	22	31876220	Missense_Mutation	SNP	G	C3N-01016_TP	2434513	31876220	18942248	379	21948											
C22orf42	0	.	GRCh38	chr22	32159009	32159009	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcttcagcatcttcggCgtcttcgggaggctgaggta	7	11	13	10	3	4	1	1	1	3	0	6	3	4	2	0	4	1	3	0	4	1	4	rs12160688		C3N-01016_TP	C3N-01016_NB	C	C																c.207G>T	p.=	p.T69T	ENST00000382097	1/9	248	200	48	268	268	0	strelka-varscan-mutect	C22orf42,synonymous_variant,p.=,ENST00000382097,NM_001010859.1;RP1-90G24.8,downstream_gene_variant,,ENST00000426354,;C22orf42,non_coding_transcript_exon_variant,,ENST00000467813,;	A	ENST00000382097	Transcript	synonymous_variant	280/1363	207/756	69/251	T	acG/acT	rs12160688	1		-1	C22orf42	HGNC	HGNC:27160	protein_coding	YES	CCDS33639.1	ENSP00000371529	Q6IC83		UPI00003765B0	NM_001010859.1			1/9		hmmpanther:PTHR15880,hmmpanther:PTHR15880:SF1																	LOW	1	SNV	1			1										PASS		rs12160688	.												A	2	1	67	32159009	32159009	C	A	1	0	0	0	0	0	0	0	1	2022	755	27	1		1	C22orf42	22	32159009	Silent	SNP	C	C3N-01016_TP	282789	32159009	18659459	380	21949											
FBXO7	0	.	GRCh38	chr22	32479069	32479069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatatgggattgtttctGgggacttgatatgtttgatt	7	19	11	4	0	2	2	1	2	1	0	2	4	2	4	0	3	0	2	0	3	2	8	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.211G>T	p.Gly71Trp	p.G71W	ENST00000266087	2/9	326	260	66	346	346	0	strelka-varscan-mutect	FBXO7,missense_variant,p.Gly71Trp,ENST00000266087,NM_012179.3;FBXO7,5_prime_UTR_variant,,ENST00000397426,NM_001257990.1;FBXO7,5_prime_UTR_variant,,ENST00000444207,;FBXO7,intron_variant,,ENST00000452138,NM_001033024.1;FBXO7,non_coding_transcript_exon_variant,,ENST00000465418,;FBXO7,intron_variant,,ENST00000492535,;FBXO7,intron_variant,,ENST00000425028,;FBXO7,intron_variant,,ENST00000420700,;	T	ENST00000266087	Transcript	missense_variant	538/2195	211/1569	71/522	G/W	Ggg/Tgg		1		1	FBXO7	HGNC	HGNC:13586	protein_coding	YES	CCDS13907.1	ENSP00000266087	Q9Y3I1		UPI000012A587	NM_012179.3	deleterious(0)		2/9		hmmpanther:PTHR15537,hmmpanther:PTHR15537:SF2,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	32479069	32479069	G	T	1	0	0	0	0	1	0	0	0	5623	1348	47	2		2	FBXO7	22	32479069	Missense_Mutation	SNP	G	C3N-01016_TP	320060	32479069	18339399	381	21950											
CSF2RA	0	.	GRCh38	chrX	1288590	1288590	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcacatttgaggttcaCgtgaatactagtcaaagagg	13	10	12	6	1	3	3	3	2	0	1	3	4	3	4	0	3	1	1	0	3	4	4	rs76312561		C3N-01016_TP	C3N-01016_NB	C	C																c.291C>G	p.His97Gln	p.H97Q	ENST00000417535	5/14	590	436	154	592	592	0	strelka-varscan-mutect	CSF2RA,missense_variant,p.His97Gln,ENST00000381524,;CSF2RA,missense_variant,p.His97Gln,ENST00000417535,NM_001161530.1;CSF2RA,missense_variant,p.His97Gln,ENST00000432318,NM_001161529.1;CSF2RA,missense_variant,p.His97Gln,ENST00000381529,NM_006140.4,NM_172245.2;CSF2RA,missense_variant,p.His97Gln,ENST00000355432,NM_172246.2;CSF2RA,missense_variant,p.His97Gln,ENST00000381509,NM_001161531.1;CSF2RA,missense_variant,p.His97Gln,ENST00000355805,NM_172249.2;CSF2RA,missense_variant,p.His97Gln,ENST00000381500,NM_172247.2;CSF2RA,missense_variant,p.His97Gln,ENST00000412290,;CSF2RA,5_prime_UTR_variant,,ENST00000501036,NM_001161532.1;CSF2RA,intron_variant,,ENST00000494969,;CSF2RA,non_coding_transcript_exon_variant,,ENST00000493312,;CSF2RA,non_coding_transcript_exon_variant,,ENST00000477940,;CSF2RA,upstream_gene_variant,,ENST00000475259,;CSF2RA,upstream_gene_variant,,ENST00000478256,;CSF2RA,missense_variant,p.His97Gln,ENST00000486791,;	G	ENST00000417535	Transcript	missense_variant	485/1955	291/1305	97/434	H/Q	caC/caG	rs76312561	1		1	CSF2RA	HGNC	HGNC:2435	protein_coding	YES	CCDS55359.1	ENSP00000394227	P15509		UPI000159C3E4	NM_001161530.1	tolerated(0.58)		5/14		hmmpanther:PTHR23036:SF94,hmmpanther:PTHR23036																	MODERATE	1	SNV	5			1										PASS		rs76312561	.												G	3	3	67	1288590	1288590	C	G	1	0	0	0	0	1	0	0	0	3735	535	19	4		4	CSF2RA	23	1288590	Missense_Mutation	SNP	C	C3N-01016_TP		1288590	154752305	382	21951											
PPP4R3CP	0	.	GRCh38	chrX	27462722	27462722	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataatttcatacaaatggTgtaaaccttcagtattctct	14	16	4	7	0	3	0	2	0	1	0	4	0	3	0	1	1	2	2	1	1	7	8	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.575A>T	p.His192Leu	p.H192L	ENST00000412172	1/1	128	99	29	94	94	0	strelka-varscan-mutect	PPP4R3CP,missense_variant,p.His192Leu,ENST00000412172,;	A	ENST00000412172	Transcript	missense_variant	620/3131	575/2499	192/832	H/L	cAc/cTc		1		-1	PPP4R3CP	HGNC	HGNC:33146	protein_coding	YES		ENSP00000489770			UPI0000D61D3F				1/1		Pfam_domain:PF04802,hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF5,Superfamily_domains:SSF48371																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	67	27462722	27462722	T	A	1	0	0	0	0	1	0	0	0	12529	1696	59	4		4	PPP4R3CP	23	27462722	Missense_Mutation	SNP	T	C3N-01016_TP	26174132	27462722	128578173	383	21952											
BMP15	0	.	GRCh38	chrX	50916586	50916586	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtatgagggtatgattgcTgagtcttgtacatgcagatg	10	13	14	4	0	1	4	0	3	1	1	1	5	1	4	0	1	3	5	0	1	3	5	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.1158T>A	p.=	p.A386A	ENST00000252677	2/2	219	159	60	212	212	0	strelka-varscan-mutect	BMP15,synonymous_variant,p.=,ENST00000252677,NM_005448.2;	A	ENST00000252677	Transcript	synonymous_variant	1158/1179	1158/1179	386/392	A	gcT/gcA		1		1	BMP15	HGNC	HGNC:1068	protein_coding	YES	CCDS14334.1	ENSP00000252677	O95972		UPI000013CD7C	NM_005448.2			2/2		Gene3D:2.10.90.10,Pfam_domain:PF00019,Prints_domain:PR00669,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF22,SMART_domains:SM00204,Superfamily_domains:SSF57501																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	67	50916586	50916586	T	A	1	0	0	0	0	0	0	0	1	1613	1567	55	4		4	BMP15	23	50916586	Silent	SNP	T	C3N-01016_TP	23453864	50916586	105124309	384	21953											
ITIH6	0	.	GRCh38	chrX	54758149	54758149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagctgtgcttacccctaggCcatgcctgctgctggatgag	6	10	13	12	0	0	1	0	1	0	0	0	3	0	2	4	2	6	4	4	2	2	2	novel		C3N-01016_TP	C3N-01016_NB	C	C																c.1925G>T	p.Gly642Val	p.G642V	ENST00000218436	8/13	166	69	97	91	91	0	strelka-varscan-mutect	ITIH6,missense_variant,p.Gly642Val,ENST00000218436,NM_198510.2;	A	ENST00000218436	Transcript	missense_variant	1955/4968	1925/3942	642/1313	G/V	gGc/gTc		1		-1	ITIH6	HGNC	HGNC:28907	protein_coding	YES	CCDS14361.1	ENSP00000218436	Q6UXX5		UPI00000540C8	NM_198510.2	deleterious(0.01)		8/13																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	67	54758149	54758149	C	A	1	0	0	0	0	1	0	0	0	7814	739	26	2		2	ITIH6	23	54758149	Missense_Mutation	SNP	C	C3N-01016_TP	3841563	54758149	101282746	385	21954											
MAGED2	0	.	GRCh38	chrX	54813513	54813513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcattcactctttggggacGtgaagaagctcatcactgat	11	12	9	9	1	5	3	4	2	1	1	5	4	5	4	0	2	1	1	0	2	2	2			C3N-01016_TP	C3N-01016_NB	G	G																c.1234G>A	p.Val412Met	p.V412M	ENST00000375068	10/13	77	46	31	74	74	0	strelka-varscan-mutect	MAGED2,missense_variant,p.Val412Met,ENST00000375068,NM_177433.2;MAGED2,missense_variant,p.Val394Met,ENST00000347546,;MAGED2,missense_variant,p.Val412Met,ENST00000375053,;MAGED2,missense_variant,p.Val412Met,ENST00000375058,NM_014599.5;MAGED2,missense_variant,p.Val412Met,ENST00000396224,NM_201222.2;MAGED2,missense_variant,p.Val412Met,ENST00000218439,;MAGED2,missense_variant,p.Val327Met,ENST00000627068,;MAGED2,missense_variant,p.Val327Met,ENST00000375060,;SNORA11,upstream_gene_variant,,ENST00000408789,;MAGED2,downstream_gene_variant,,ENST00000497484,;MAGED2,downstream_gene_variant,,ENST00000485483,;MAGED2,downstream_gene_variant,,ENST00000463787,;MAGED2,downstream_gene_variant,,ENST00000487463,;MAGED2,downstream_gene_variant,,ENST00000487482,;	A	ENST00000375068	Transcript	missense_variant	1467/2189	1234/1821	412/606	V/M	Gtg/Atg	COSM5279952	1		1	MAGED2	HGNC	HGNC:16353	protein_coding	YES	CCDS14362.1	ENSP00000364209	Q9UNF1	A0A024R9Y7	UPI000000123B	NM_177433.2	deleterious(0.03)		10/13		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF11,hmmpanther:PTHR11736,Pfam_domain:PF01454,SMART_domains:SM01373											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	67	54813513	54813513	G	A	1	0	0	0	0	1	0	0	0	9102	1145	40	1		1	MAGED2	23	54813513	Missense_Mutation	SNP	G	C3N-01016_TP	55364	54813513	101227382	386	21955											
CHM	0	.	GRCh38	chrX	85956278	85956278	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctatggtgctgctggcTgtctctgatgtcattgcaat	6	15	10	10	0	3	1	1	1	2	0	4	1	3	1	1	2	3	4	1	2	2	2	novel		C3N-01016_TP	C3N-01016_NB	T	T																c.1041A>T	p.=	p.T347T	ENST00000357749	8/15	234	120	114	202	202	0	strelka-varscan-mutect	CHM,synonymous_variant,p.=,ENST00000357749,NM_001320959.1,NM_000390.2;CHM,intron_variant,,ENST00000467744,;	A	ENST00000357749	Transcript	synonymous_variant	1071/5442	1041/1962	347/653	T	acA/acT		1		-1	CHM	HGNC	HGNC:1940	protein_coding	YES	CCDS14454.1	ENSP00000350386	P24386		UPI0000049C8C	NM_001320959.1,NM_000390.2			8/15		hmmpanther:PTHR11787:SF12,hmmpanther:PTHR11787,Pfam_domain:PF00996,Gene3D:3.30.519.10,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	67	85956278	85956278	T	A	1	0	0	0	0	0	0	0	1	3109	1567	55	4		4	CHM	23	85956278	Silent	SNP	T	C3N-01016_TP	31142765	85956278	70084617	387	21956											
TCEAL2	0	.	GRCh38	chrX	102127483	102127483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtggctgcagggccccacGaagggacactgaagacattc	10	5	15	11	1	0	2	0	1	0	1	1	4	0	3	2	4	1	2	2	4	2	1			C3N-01016_TP	C3N-01016_NB	G	G																c.653G>A	p.Arg218Gln	p.R218Q	ENST00000372780	3/3	24	16	8	15	15	0	strelka-varscan-mutect	TCEAL2,missense_variant,p.Arg218Gln,ENST00000372780,NM_080390.3;TCEAL2,missense_variant,p.Arg218Gln,ENST00000329035,;TCEAL2,downstream_gene_variant,,ENST00000476749,;	A	ENST00000372780	Transcript	missense_variant	872/1100	653/684	218/227	R/Q	cGa/cAa	COSM1228700	1		1	TCEAL2	HGNC	HGNC:29818	protein_coding	YES	CCDS14496.1	ENSP00000361866	Q9H3H9		UPI00000709E1	NM_080390.3	tolerated(1)		3/3		hmmpanther:PTHR14754,hmmpanther:PTHR14754:SF15											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	67	102127483	102127483	G	A	1	0	0	0	0	1	0	0	0	16078	1058	37	1		1	TCEAL2	23	102127483	Missense_Mutation	SNP	G	C3N-01016_TP	16171205	102127483	53913412	388	21957											
ADGRG4	0	.	GRCh38	chrX	136346976	136346976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgattcgtaccacttcagaGgccacggtaatctctgtcag	9	12	9	11	2	3	2	2	1	1	1	5	2	3	2	2	2	1	2	2	2	2	5	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.3270G>T	p.Glu1090Asp	p.E1090D	ENST00000394143	6/26	147	68	79	138	138	0	strelka-varscan-mutect	ADGRG4,missense_variant,p.Glu1090Asp,ENST00000394143,NM_153834.3;ADGRG4,missense_variant,p.Glu1090Asp,ENST00000370652,;ADGRG4,missense_variant,p.Glu885Asp,ENST00000394141,;	T	ENST00000394143	Transcript	missense_variant	3561/9931	3270/9243	1090/3080	E/D	gaG/gaT		1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3	deleterious(0)		6/26																			MODERATE	1	SNV	1			1										PASS		rs957548002	.												T	3	4	67	136346976	136346976	G	T	1	0	0	0	0	1	0	0	0	371	991	35	2		2	ADGRG4	23	136346976	Missense_Mutation	SNP	G	C3N-01016_TP	34219493	136346976	19693919	389	21958											
ADGRG4	0	.	GRCh38	chrX	136347189	136347189	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgtcctccactcatgtGatctcaactacgtctacacc	8	11	5	17	2	3	1	2	1	2	0	6	1	5	1	4	0	4	0	4	0	3	2	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.3483G>T	p.=	p.V1161V	ENST00000394143	6/26	159	74	85	111	111	0	strelka-varscan-mutect	ADGRG4,synonymous_variant,p.=,ENST00000394143,NM_153834.3;ADGRG4,synonymous_variant,p.=,ENST00000370652,;ADGRG4,synonymous_variant,p.=,ENST00000394141,;	T	ENST00000394143	Transcript	synonymous_variant	3774/9931	3483/9243	1161/3080	V	gtG/gtT		1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3			6/26																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	67	136347189	136347189	G	T	1	0	0	0	0	0	0	0	1	371	1277	45	2		2	ADGRG4	23	136347189	Silent	SNP	G	C3N-01016_TP	213	136347189	19693706	390	21959											
HSFX2	0	.	GRCh38	chrX	149594565	149594565	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccgggtcgtcccaggcagGggaaggatctgctgggtgaa	7	6	17	11	2	1	1	0	1	1	0	3	3	2	3	3	6	1	2	3	6	2	0	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.136C>G	p.Pro46Ala	p.P46A	ENST00000598963	1/2	67	46	21	59	59	0	strelka-varscan-mutect	HSFX2,missense_variant,p.Pro46Ala,ENST00000598963,NM_001164415.2;TMEM185A,downstream_gene_variant,,ENST00000600449,NM_032508.3;TMEM185A,downstream_gene_variant,,ENST00000611119,NM_001174092.2;TMEM185A,downstream_gene_variant,,ENST00000613273,;TMEM185A,downstream_gene_variant,,ENST00000502858,;TMEM185A,downstream_gene_variant,,ENST00000616857,;TMEM185A,downstream_gene_variant,,ENST00000612022,;	C	ENST00000598963	Transcript	missense_variant	152/1365	136/1272	46/423	P/A	Cct/Gct		1		-1	HSFX2	HGNC	HGNC:32701	protein_coding	YES	CCDS48179.1	ENSP00000469223	Q9UBD0	A0A140VK21	UPI000007033B	NM_001164415.2	tolerated(0.8)		1/2		hmmpanther:PTHR10015,hmmpanther:PTHR10015:SF163																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	67	149594565	149594565	G	C	1	0	0	0	0	1	0	0	0	7295	1232	43	4		4	HSFX2	23	149594565	Missense_Mutation	SNP	G	C3N-01016_TP	13247376	149594565	6446330	391	21960											
ATP2B3	0	.	GRCh38	chrX	153560832	153560832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgagaggaacgtgttcgacgGcatcttcagcaaccccatct	10	8	10	13	4	3	1	1	0	2	1	4	4	3	2	2	2	3	3	2	2	2	2	novel		C3N-01016_TP	C3N-01016_NB	G	G																c.2996G>T	p.Gly999Val	p.G999V	ENST00000263519	17/20	259	105	154	222	222	0	strelka-varscan-mutect	ATP2B3,missense_variant,p.Gly985Val,ENST00000370186,;ATP2B3,missense_variant,p.Gly999Val,ENST00000263519,NM_001001344.2;ATP2B3,missense_variant,p.Gly999Val,ENST00000349466,;ATP2B3,missense_variant,p.Gly999Val,ENST00000359149,NM_021949.3;ATP2B3,missense_variant,p.Gly985Val,ENST00000393842,;ATP2B3,downstream_gene_variant,,ENST00000460549,;	T	ENST00000263519	Transcript	missense_variant	3122/6420	2996/3663	999/1220	G/V	gGc/gTc		1		1	ATP2B3	HGNC	HGNC:816	protein_coding	YES	CCDS35440.1	ENSP00000263519	Q16720		UPI00001AE881	NM_001001344.2	deleterious(0)		17/20		Transmembrane_helices:TMhelix,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF284,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01517,Pfam_domain:PF00689,Superfamily_domains:0049473																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	67	153560832	153560832	G	T	1	0	0	0	0	1	0	0	0	1294	1203	42	2		2	ATP2B3	23	153560832	Missense_Mutation	SNP	G	C3N-01016_TP	3966267	153560832	2480063	392	21961											
KIF2C	0	.	GRCh38	chr1	44760648	44760648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccgttccgtgagagcaaGctgacacaggtgctgaggga	10	6	14	11	2	0	3	0	3	0	1	1	5	1	4	3	2	3	4	3	2	1	1	novel		C3N-01021_TP	C3N-01021_NB	G	G																c.1629G>A	p.=	p.K543K	ENST00000372224	16/21	383	352	31	344	344	0	strelka-varscan-mutect	KIF2C,synonymous_variant,p.=,ENST00000372217,NM_001297657.1,NM_001297656.1;KIF2C,synonymous_variant,p.=,ENST00000372224,NM_006845.3,NM_001297655.1;KIF2C,synonymous_variant,p.=,ENST00000423289,;KIF2C,downstream_gene_variant,,ENST00000452259,;KIF2C,downstream_gene_variant,,ENST00000455186,;RP11-269F19.2,intron_variant,,ENST00000428791,;RP11-269F19.2,intron_variant,,ENST00000440985,;KIF2C,downstream_gene_variant,,ENST00000493027,;KIF2C,upstream_gene_variant,,ENST00000472235,;	A	ENST00000372224	Transcript	synonymous_variant	1742/2879	1629/2178	543/725	K	aaG/aaA		1		1	KIF2C	HGNC	HGNC:6393	protein_coding	YES	CCDS512.1	ENSP00000361298	Q99661	A0A140VKF1	UPI000012DDAD	NM_006845.3,NM_001297655.1			16/21		PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF454,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	68	44760648	44760648	G	A	1	0	0	0	0	0	0	0	1	8164	962	34	3		3	KIF2C	1	44760648	Silent	SNP	G	C3N-01021_TP		44760648	204195774	1	21962											
MOV10	0	.	GRCh38	chr1	112694587	112694587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgctctttcctgtggCacctcgggacgtcccgctgc	3	10	11	17	3	1	0	0	0	1	0	4	1	3	1	4	2	2	3	4	2	0	1	novel		C3N-01021_TP	C3N-01021_NB	C	C																c.1430C>T	p.Ala477Val	p.A477V	ENST00000413052	9/21	74	47	27	112	112	0	strelka-mutect	MOV10,missense_variant,p.Ala421Val,ENST00000369644,NM_001286072.1;MOV10,missense_variant,p.Ala477Val,ENST00000413052,NM_020963.4;MOV10,missense_variant,p.Ala477Val,ENST00000369645,NM_001321324.1,NM_001130079.2;MOV10,missense_variant,p.Ala477Val,ENST00000357443,;RP11-426L16.3,non_coding_transcript_exon_variant,,ENST00000421943,;MOV10,non_coding_transcript_exon_variant,,ENST00000468624,;MOV10,non_coding_transcript_exon_variant,,ENST00000496577,;MOV10,upstream_gene_variant,,ENST00000490413,;MOV10,upstream_gene_variant,,ENST00000488160,;MOV10,upstream_gene_variant,,ENST00000471160,;MOV10,downstream_gene_variant,,ENST00000479858,;MOV10,upstream_gene_variant,,ENST00000482545,;MOV10,upstream_gene_variant,,ENST00000481711,;	T	ENST00000413052	Transcript	missense_variant	1820/3641	1430/3012	477/1003	A/V	gCa/gTa		1		1	MOV10	HGNC	HGNC:7200	protein_coding	YES	CCDS853.1	ENSP00000399797	Q9HCE1		UPI000012FA84	NM_020963.4	tolerated(0.25)		9/21		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF322																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	68	112694587	112694587	C	T	1	0	0	0	0	1	0	0	0	9680	710	25	3		3	MOV10	1	112694587	Missense_Mutation	SNP	C	C3N-01021_TP	67933939	112694587	136261835	2	21963											
SNX27	0	.	GRCh38	chr1	151683395	151683395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggttacatcaaagcagaaGaaaagtcctatcaattacag	19	8	7	7	0	2	2	2	0	0	2	3	2	3	2	1	1	3	2	1	1	9	3			C3N-01021_TP	C3N-01021_NB	G	G																c.1189G>A	p.Glu397Lys	p.E397K	ENST00000368843	8/12	279	189	90	224	224	0	strelka-varscan	SNX27,missense_variant,p.Glu397Lys,ENST00000368843,NM_030918.5;SNX27,missense_variant,p.Glu397Lys,ENST00000458013,;SNX27,missense_variant,p.Glu304Lys,ENST00000368838,;SNX27,3_prime_UTR_variant,,ENST00000368841,;	A	ENST00000368843	Transcript	missense_variant	1309/7197	1189/1587	397/528	E/K	Gaa/Aaa	COSM895881	1		1	SNX27	HGNC	HGNC:20073	protein_coding	YES	CCDS1001.1	ENSP00000357836	Q96L92		UPI00001A962E	NM_030918.5	tolerated(0.14)		8/12		hmmpanther:PTHR12431,hmmpanther:PTHR12431:SF17											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	68	151683395	151683395	G	A	1	0	0	0	0	1	0	0	0	15218	943	33	3		3	SNX27	1	151683395	Missense_Mutation	SNP	G	C3N-01021_TP	38988808	151683395	97273027	3	21964											
FLG	0	.	GRCh38	chr1	152313790	152313790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgatgcagtctgtccacGagaggaagtctctgcgtgac	9	9	14	9	2	2	3	0	2	2	1	4	6	3	5	1	2	2	1	1	2	1	0	rs371936330		C3N-01021_TP	C3N-01021_NB	G	G																c.1096C>A	p.Arg366Ser	p.R366S	ENST00000368799	3/3	649	595	54	678	677	1	strelka-varscan	FLG,missense_variant,p.Arg366Ser,ENST00000368799,NM_002016.1;FLG-AS1,non_coding_transcript_exon_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368799	Transcript	missense_variant	1132/12747	1096/12186	366/4061	R/S	Cgt/Agt	rs371936330	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	tolerated(0.06)		3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	68	152313790	152313790	G	T	1	0	0	0	0	1	0	0	0	5784	1058	37	1		1	FLG	1	152313790	Missense_Mutation	SNP	G	C3N-01021_TP	630395	152313790	96642632	4	21965											
CRNN	0	.	GRCh38	chr1	152410078	152410078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctggctggtctggctcCtgccttgaccgtggatctca	4	11	12	14	1	2	1	1	1	2	0	4	2	3	2	4	4	2	2	4	4	0	1			C3N-01021_TP	C3N-01021_NB	C	C																c.1004G>A	p.Arg335Lys	p.R335K	ENST00000271835	3/3	353	305	48	302	301	1	strelka-varscan	CRNN,missense_variant,p.Arg335Lys,ENST00000271835,NM_016190.2;FLG-AS1,intron_variant,,ENST00000411804,;FLG-AS1,downstream_gene_variant,,ENST00000628475,;	T	ENST00000271835	Transcript	missense_variant	1067/1902	1004/1488	335/495	R/K	aGg/aAg	COSM3862784	1		-1	CRNN	HGNC	HGNC:1230	protein_coding	YES	CCDS1010.1	ENSP00000271835	Q9UBG3		UPI000006E106	NM_016190.2	tolerated(0.25)		3/3		hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF26											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	68	152410078	152410078	C	T	1	0	0	0	0	1	0	0	0	3693	681	24	3		3	CRNN	1	152410078	Missense_Mutation	SNP	C	C3N-01021_TP	96288	152410078	96546344	5	21966											
HADHB	0	.	GRCh38	chr2	26254274	26254274	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgactatcttgacttaccCctttaaaaatcttcccactg	12	14	3	12	0	2	2	0	2	2	0	3	2	3	2	3	0	1	0	3	0	6	6	rs866708381		C3N-01021_TP	C3N-01021_NB	C	C																c.20C>G	p.Pro7Arg	p.P7R	ENST00000317799	2/16	428	360	68	448	448	0	strelka-varscan	HADHB,missense_variant,p.Pro7Arg,ENST00000537713,NM_001281512.1;HADHB,missense_variant,p.Pro7Arg,ENST00000317799,NM_000183.2;HADHB,missense_variant,p.Pro7Arg,ENST00000405867,;HADHB,missense_variant,p.Pro7Arg,ENST00000425035,;HADHB,missense_variant,p.Pro7Arg,ENST00000412805,;HADHB,missense_variant,p.Pro7Arg,ENST00000448743,;HADHB,non_coding_transcript_exon_variant,,ENST00000479347,;	G	ENST00000317799	Transcript	missense_variant	124/2044	20/1425	7/474	P/R	cCc/cGc	rs866708381	1		1	HADHB	HGNC	HGNC:4803	protein_coding	YES	CCDS1722.1	ENSP00000325136	P55084		UPI0000129B6F	NM_000183.2	tolerated_low_confidence(0.12)		2/16																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	68	26254274	26254274	C	G	1	0	0	0	0	1	0	0	0	6830	623	22	4		4	HADHB	2	26254274	Missense_Mutation	SNP	C	C3N-01021_TP		26254274	215939255	6	21967											
DHX57	0	.	GRCh38	chr2	38826551	38826551	+	Frame_Shift_Del	DEL	G	G	-																															ttcccagaatcgataacataGacaacatcatcgatggttat																								rs576995265		C3N-01021_TP	C3N-01021_NB	G	G																c.2778delC	p.Tyr927MetfsTer8	p.Y927Mfs*8	ENST00000457308	15/24	146	127	19	175	175	0	sindel-varindel-pindel	DHX57,frameshift_variant,p.Tyr927MetfsTer8,ENST00000457308,NM_198963.1;DHX57,frameshift_variant,p.Tyr251MetfsTer8,ENST00000452978,;DHX57,3_prime_UTR_variant,,ENST00000620517,;DHX57,non_coding_transcript_exon_variant,,ENST00000622155,;	-	ENST00000457308	Transcript	frameshift_variant	2906/4859	2778/4161	926/1386	V/X	gtC/gt	rs576995265	1		-1	DHX57	HGNC	HGNC:20086	protein_coding	YES	CCDS1800.1	ENSP00000405111	Q6P158		UPI0000231C8C	NM_198963.1			15/24		Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF145,SMART_domains:SM00490,Superfamily_domains:SSF52540																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	68	38826551	38826551	G	-	1	0	1	0	1	0	0	0	0	4317	929	33	0		0	DHX57	2	38826551	Frame_Shift_Del	DEL	G	C3N-01021_TP	12572277	38826551	203366978	7	21968											
DNAH6	0	.	GRCh38	chr2	84548336	84548336	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcattaatacaccacatgAgttgcccacttatggagact	12	13	6	10	0	1	2	1	1	0	1	1	3	1	2	2	1	2	1	2	1	3	5	novel		C3N-01021_TP	C3N-01021_NB	A	A																c.1235A>T	p.Glu412Val	p.E412V	ENST00000389394	8/77	246	227	19	263	263	0	strelka-varscan-mutect	DNAH6,missense_variant,p.Glu412Val,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Glu412Val,ENST00000237449,;DNAH6,downstream_gene_variant,,ENST00000468661,;DNAH6,non_coding_transcript_exon_variant,,ENST00000476689,;DNAH6,non_coding_transcript_exon_variant,,ENST00000494025,;	T	ENST00000389394	Transcript	missense_variant	1372/12795	1235/12477	412/4158	E/V	gAg/gTg		1		1	DNAH6	HGNC	HGNC:2951	protein_coding	YES	CCDS46348.1	ENSP00000374045	Q9C0G6		UPI000163AC9D	NM_001370.1	tolerated(0.07)		8/77		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	68	84548336	84548336	A	T	1	0	0	0	0	1	0	0	0	4420	304	11	4		4	DNAH6	2	84548336	Missense_Mutation	SNP	A	C3N-01021_TP	45721785	84548336	157645193	8	21969											
SPC25	0	.	GRCh38	chr2	168871484	168871484	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattggcaagaaaagctgAaaaattgttggtcttcctta	15	12	8	6	0	1	2	0	1	1	1	2	2	2	2	1	2	2	3	1	2	7	5	novel		C3N-01021_TP	C3N-01021_NB	A	A																c.622T>C	p.Ser208Pro	p.S208P	ENST00000282074	7/7	166	141	25	217	217	0	strelka-varscan-mutect	SPC25,missense_variant,p.Ser208Pro,ENST00000282074,NM_020675.3;SPC25,intron_variant,,ENST00000479309,;	G	ENST00000282074	Transcript	missense_variant	764/1354	622/675	208/224	S/P	Tca/Cca		1		-1	SPC25	HGNC	HGNC:24031	protein_coding	YES	CCDS2229.1	ENSP00000282074	Q9HBM1		UPI000006D2C9	NM_020675.3	tolerated(0.05)		7/7		hmmpanther:PTHR14281:SF0,hmmpanther:PTHR14281,Pfam_domain:PF08234																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	68	168871484	168871484	A	G	1	0	0	0	0	1	0	0	0	15368	246	9	5		5	SPC25	2	168871484	Missense_Mutation	SNP	A	C3N-01021_TP	84323148	168871484	73322045	9	21970											
FASTKD1	0	.	GRCh38	chr2	169540078	169540078	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgagaatccaatctagctaAgaatttgatgttaaaaattg	16	14	7	4	0	1	3	0	2	1	2	2	4	2	3	1	0	1	2	1	0	8	6	rs755078934		C3N-01021_TP	C3N-01021_NB	A	A																c.1918T>G	p.Leu640Val	p.L640V	ENST00000453153	10/15	156	132	24	133	133	0	strelka-varscan-mutect	FASTKD1,missense_variant,p.Leu640Val,ENST00000453153,NM_024622.4;FASTKD1,missense_variant,p.Leu640Val,ENST00000453929,NM_001281476.1;FASTKD1,non_coding_transcript_exon_variant,,ENST00000495505,;FASTKD1,non_coding_transcript_exon_variant,,ENST00000490590,;FASTKD1,upstream_gene_variant,,ENST00000488516,;	C	ENST00000453153	Transcript	missense_variant	2265/2967	1918/2544	640/847	L/V	Tta/Gta	rs755078934	1		-1	FASTKD1	HGNC	HGNC:26150	protein_coding	YES	CCDS33318.1	ENSP00000400513	Q53R41		UPI000050BC4D	NM_024622.4	deleterious(0)		10/15		hmmpanther:PTHR21228:SF29,hmmpanther:PTHR21228,Pfam_domain:PF06743																	MODERATE	1	SNV	1			1										PASS		rs755078934	.												C	3	2	68	169540078	169540078	A	C	1	0	0	0	0	1	0	0	0	5545	69	3	5		5	FASTKD1	2	169540078	Missense_Mutation	SNP	A	C3N-01021_TP	668594	169540078	72653451	10	21971											
PID1	0	.	GRCh38	chr2	229025926	229025926	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatccatgtgcactgtggcCtcccctttgtggtcgagatg	5	13	12	11	1	0	1	0	0	0	1	3	2	2	1	4	2	1	2	4	2	1	2	novel		C3N-01021_TP	C3N-01021_NB	C	C																c.453G>T	p.Glu151Asp	p.E151D	ENST00000392054	4/4	292	254	38	324	323	1	strelka-varscan	PID1,missense_variant,p.Glu151Asp,ENST00000392054,NM_017933.4;PID1,missense_variant,p.Glu120Asp,ENST00000392055,NM_001100818.1;PID1,missense_variant,p.Glu71Asp,ENST00000409462,;PID1,missense_variant,p.Glu153Asp,ENST00000354069,;PID1,intron_variant,,ENST00000482518,;PID1,downstream_gene_variant,,ENST00000534952,;	A	ENST00000392054	Transcript	missense_variant	793/2745	453/747	151/248	E/D	gaG/gaT		1		-1	PID1	HGNC	HGNC:26084	protein_coding	YES	CCDS2471.1	ENSP00000375907	Q7Z2X4		UPI00001C0AF7	NM_017933.4	tolerated(0.17)		4/4		hmmpanther:PTHR16265:SF1,hmmpanther:PTHR16265,Pfam_domain:PF14719,SMART_domains:SM00462,Superfamily_domains:SSF50729																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	68	229025926	229025926	C	A	1	0	0	0	0	1	0	0	0	11972	680	24	2		2	PID1	2	229025926	Missense_Mutation	SNP	C	C3N-01021_TP	59485848	229025926	13167603	11	21972											
RTP2	0	.	GRCh38	chr3	187698972	187698972	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggaagaggatgaccacatgGgcagactgccaggtgtgcca	11	6	15	9	0	0	3	0	1	0	2	0	5	0	5	3	4	2	1	3	4	1	0	novel		C3N-01021_TP	C3N-01021_NB	G	G																c.204C>T	p.=	p.A68A	ENST00000358241	2/2	33	27	6	54	54	0	strelka-varscan-mutect	RTP2,synonymous_variant,p.=,ENST00000358241,NM_001004312.2;RP11-211G3.3,upstream_gene_variant,,ENST00000449623,;RP11-211G3.3,upstream_gene_variant,,ENST00000437407,;	A	ENST00000358241	Transcript	synonymous_variant	633/1346	204/678	68/225	A	gcC/gcT		1		-1	RTP2	HGNC	HGNC:32486	protein_coding	YES	CCDS33911.1	ENSP00000350976	Q5QGT7		UPI00001D801A	NM_001004312.2			2/2		hmmpanther:PTHR14402:SF18,hmmpanther:PTHR14402,Pfam_domain:PF13695,SMART_domains:SM01328																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	68	187698972	187698972	G	A	1	0	0	0	0	0	0	0	1	13994	1219	43	3		3	RTP2	3	187698972	Silent	SNP	G	C3N-01021_TP		187698972	10596587	12	21973											
MUC4	0	.	GRCh38	chr3	195781919	195781919	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggatactgaggaaaggcTggtgacaggaagaggggtgg	11	7	20	3	0	0	3	0	2	0	1	0	6	0	6	0	8	1	1	0	8	3	1	novel		C3N-01021_TP	C3N-01021_NB	T	T																c.9661A>G	p.Ser3221Gly	p.S3221G	ENST00000463781	2/25	90	83	7	85	84	1	varscan-mutect	MUC4,missense_variant,p.Ser3221Gly,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ser3221Gly,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ser3221Gly,ENST00000478156,;MUC4,missense_variant,p.Ser3221Gly,ENST00000466475,;MUC4,missense_variant,p.Ser3221Gly,ENST00000477756,;MUC4,missense_variant,p.Ser3221Gly,ENST00000477086,;MUC4,missense_variant,p.Ser3221Gly,ENST00000480843,;MUC4,missense_variant,p.Ser3221Gly,ENST00000462323,;MUC4,missense_variant,p.Ser3221Gly,ENST00000470451,;MUC4,missense_variant,p.Ser3221Gly,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	C	ENST00000463781	Transcript	missense_variant	10121/17110	9661/16239	3221/5412	S/G	Agc/Ggc		1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	tolerated_low_confidence(0.29)		2/25																			MODERATE	1	SNV	5			1										PASS		rs1482969929	.												C	3	2	68	195781919	195781919	T	C	1	0	0	0	0	1	0	0	0	9977	1580	55	5		5	MUC4	3	195781919	Missense_Mutation	SNP	T	C3N-01021_TP	8082947	195781919	2513640	13	21974											
ENPEP	0	.	GRCh38	chr4	110561463	110561463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggagaaaaacctagggaaCaagtgctggaaacagtgaaa	19	4	12	6	0	0	2	0	1	0	1	0	5	0	4	1	3	4	1	1	3	7	1	novel		C3N-01021_TP	C3N-01021_NB	C	C																c.2779C>A	p.Gln927Lys	p.Q927K	ENST00000265162	20/20	348	330	18	355	355	0	strelka-varscan	ENPEP,missense_variant,p.Gln927Lys,ENST00000265162,NM_001977.3;ENPEP,non_coding_transcript_exon_variant,,ENST00000504100,;	A	ENST00000265162	Transcript	missense_variant	3121/6943	2779/2874	927/957	Q/K	Caa/Aaa		1		1	ENPEP	HGNC	HGNC:3355	protein_coding	YES	CCDS3691.1	ENSP00000265162	Q07075		UPI000013D5C6	NM_001977.3	deleterious(0.02)		20/20		Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF188																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	68	110561463	110561463	C	A	1	0	0	0	0	1	0	0	0	4973	479	17	2		2	ENPEP	4	110561463	Missense_Mutation	SNP	C	C3N-01021_TP		110561463	79653092	14	21975											
PCDHGB4	0	.	GRCh38	chr5	141388248	141388248	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttttatcacgtgaatgtgGagatcgaggacattaatgac	13	12	10	6	2	1	3	1	2	0	1	2	6	1	4	0	2	0	0	0	2	3	3	novel		C3N-01021_TP	C3N-01021_NB	G	G																c.364G>T	p.Glu122Ter	p.E122*	ENST00000519479	1/4	102	91	11	151	148	3	varscan-mutect	PCDHGB4,stop_gained,p.Glu122Ter,ENST00000615384,NM_032098.1;PCDHGB4,stop_gained,p.Glu122Ter,ENST00000519479,NM_003736.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA8,upstream_gene_variant,,ENST00000610569,NM_014004.2;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1;PCDHGA7,downstream_gene_variant,,ENST00000617050,NM_032087.2;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000519479	Transcript	stop_gained	364/4578	364/2772	122/923	E/*	Gag/Tag		1		1	PCDHGB4	HGNC	HGNC:8711	protein_coding	YES	CCDS54928.1	ENSP00000428288	Q9UN71		UPI000006F773	NM_003736.2			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF117,hmmpanther:PTHR24028,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	HIGH	1	SNV	1			1										PASS		rs1219169033	.												T	4	4	68	141388248	141388248	G	T	1	0	0	0	0	0	1	0	0	11652	1175	41	2		2	PCDHGB4	5	141388248	Nonsense_Mutation	SNP	G	C3N-01021_TP		141388248	40150011	15	21976											
EGFR	0	.	GRCh38	chr7	55174015	55174015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaaagatcaaagtgctggGctccggtgcgttcggcacgg	10	7	14	10	4	1	1	1	0	0	1	3	1	2	1	1	4	2	4	1	4	3	1	rs121913428		C3N-01021_TP	C3N-01021_NB	G	G																c.2156G>C	p.Gly719Ala	p.G719A	ENST00000275493	18/28	362	283	79	415	415	0	strelka-varscan-mutect	EGFR,missense_variant,p.Gly719Ala,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Gly674Ala,ENST00000454757,;EGFR,missense_variant,p.Gly674Ala,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;	C	ENST00000275493	Transcript	missense_variant	2333/9821	2156/3633	719/1210	G/A	gGc/gCc	rs121913428,COSM18425,COSM20848,COSM6239	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		18/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										pathogenic	0,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs121913428	.												C	3	2	68	55174015	55174015	G	C	1	0	0	0	0	1	0	0	0	4803	1203	42	4		4	EGFR	7	55174015	Missense_Mutation	SNP	G	C3N-01021_TP		55174015	104171958	16	21977											
EGFR	0	.	GRCh38	chr7	55191831	55191831	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattttgggctggccaaacTgctgggtgcggaagagaaag	11	8	16	6	1	0	2	0	0	0	2	0	4	0	3	1	4	3	2	1	4	3	2	rs121913444		C3N-01021_TP	C3N-01021_NB	T	T																c.2582T>A	p.Leu861Gln	p.L861Q	ENST00000275493	21/28	561	457	104	624	624	0	strelka-varscan-mutect	EGFR,missense_variant,p.Leu861Gln,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu816Gln,ENST00000454757,;EGFR,missense_variant,p.Leu816Gln,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	A	ENST00000275493	Transcript	missense_variant	2759/9821	2582/3633	861/1210	L/Q	cTg/cAg	rs121913444,COSM12374,COSM6213	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										uncertain_significance,drug_response	0,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs121913444	.												A	3	1	68	55191831	55191831	T	A	1	0	0	0	0	1	0	0	0	4803	1580	55	4		4	EGFR	7	55191831	Missense_Mutation	SNP	T	C3N-01021_TP	17816	55191831	104154142	17	21978											
EPHA1	0	.	GRCh38	chr7	143397330	143397330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcggtggcgcggtcaCgctgcctctgctgcctctgc	3	9	12	17	4	3	0	1	0	2	0	4	0	3	0	3	3	4	2	3	3	0	0	rs555587376		C3N-01021_TP	C3N-01021_NB	C	C																c.1745G>T	p.Arg582Leu	p.R582L	ENST00000275815	10/18	101	87	14	125	125	0	strelka-varscan-mutect	EPHA1,missense_variant,p.Arg582Leu,ENST00000275815,NM_005232.4;EPHA1,non_coding_transcript_exon_variant,,ENST00000488068,;EPHA1,downstream_gene_variant,,ENST00000497891,;EPHA1,upstream_gene_variant,,ENST00000494989,;EPHA1,upstream_gene_variant,,ENST00000465208,;EPHA1,downstream_gene_variant,,ENST00000479459,;	A	ENST00000275815	Transcript	missense_variant	1832/3363	1745/2931	582/976	R/L	cGt/cTt	rs555587376	1		-1	EPHA1	HGNC	HGNC:3385	protein_coding	YES	CCDS5884.1	ENSP00000275815	P21709		UPI000013DA82	NM_005232.4	tolerated(0.12)		10/18		Low_complexity_(Seg):seg,hmmpanther:PTHR24416:SF28,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666,Pfam_domain:PF14575																	MODERATE	1	SNV	1			1										PASS		rs555587376	.												A	3	1	68	143397330	143397330	C	A	1	0	0	0	0	1	0	0	0	5012	536	19	1		1	EPHA1	7	143397330	Missense_Mutation	SNP	C	C3N-01021_TP	88205499	143397330	15948643	18	21979											
OR2A12	0	.	GRCh38	chr7	144095706	144095706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaccaggtggtcctatttgCgggttctgcgttcatcttag	6	14	11	10	2	3	0	1	0	2	0	4	0	4	0	2	3	3	2	2	3	3	5	rs770997909		C3N-01021_TP	C3N-01021_NB	C	C																c.599C>T	p.Ala200Val	p.A200V	ENST00000408949	1/1	417	341	76	469	469	0	strelka-varscan-mutect	OR2A12,missense_variant,p.Ala200Val,ENST00000408949,NM_001004135.1;	T	ENST00000408949	Transcript	missense_variant	659/1046	599/933	200/310	A/V	gCg/gTg	rs770997909,COSM41029	1		1	OR2A12	HGNC	HGNC:15082	protein_coding	YES	CCDS43670.1	ENSP00000386174	Q8NGT7	A4D2G4	UPI0000061E6F	NM_001004135.1	tolerated(0.36)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF50,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs770997909	.												T	3	4	68	144095706	144095706	C	T	1	0	0	0	0	1	0	0	0	11052	768	27	1		1	OR2A12	7	144095706	Missense_Mutation	SNP	C	C3N-01021_TP	698376	144095706	15250267	19	21980											
ITGA8	0	.	GRCh38	chr10	15608279	15608279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgacagatgcacatactCttaaagaaaagctatagaaa	18	9	7	7	0	1	4	0	1	1	3	1	4	1	4	0	0	3	2	0	0	8	4	novel		C3N-01021_TP	C3N-01021_NB	C	C																c.1565G>C	p.Arg522Thr	p.R522T	ENST00000378076	16/30	170	161	9	146	146	0	strelka-varscan-mutect	ITGA8,missense_variant,p.Arg522Thr,ENST00000378076,NM_003638.2,NM_001291494.1;ITGA8,upstream_gene_variant,,ENST00000477064,;ITGA8,downstream_gene_variant,,ENST00000468882,;	G	ENST00000378076	Transcript	missense_variant	1919/6755	1565/3192	522/1063	R/T	aGa/aCa		1		-1	ITGA8	HGNC	HGNC:6144	protein_coding	YES	CCDS31155.1	ENSP00000367316	P53708		UPI00001D80A0	NM_003638.2,NM_001291494.1	tolerated(0.25)		16/30		Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		rs1424172876	.												G	3	3	68	15608279	15608279	C	G	1	0	0	0	0	1	0	0	0	7789	913	32	4		4	ITGA8	10	15608279	Missense_Mutation	SNP	C	C3N-01021_TP		15608279	118189143	20	21981											
MAP6	0	.	GRCh38	chr11	75668263	75668263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcgcccgggtgctcggtgGcctccgagtacttggtgaaa	5	8	17	11	4	0	1	0	1	0	0	2	2	1	1	3	5	2	2	3	5	2	2	novel		C3N-01021_TP	C3N-01021_NB	G	G																c.107C>A	p.Ala36Asp	p.A36D	ENST00000304771	1/4	185	173	12	208	208	0	strelka-varscan-mutect	MAP6,missense_variant,p.Ala36Asp,ENST00000434603,NM_207577.1;MAP6,missense_variant,p.Ala36Asp,ENST00000304771,NM_033063.1;MAP6,intron_variant,,ENST00000526740,;	T	ENST00000304771	Transcript	missense_variant	858/3334	107/2442	36/813	A/D	gCc/gAc		1		-1	MAP6	HGNC	HGNC:6868	protein_coding	YES	CCDS31641.1	ENSP00000307093	Q96JE9		UPI0000251E6A	NM_033063.1	deleterious(0.04)		1/4		hmmpanther:PTHR14759,hmmpanther:PTHR14759:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	68	75668263	75668263	G	T	1	0	0	0	0	1	0	0	0	9188	1203	42	2		2	MAP6	11	75668263	Missense_Mutation	SNP	G	C3N-01021_TP		75668263	59418359	21	21982											
SALL2	0	.	GRCh38	chr14	21523598	21523598	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggccccccaggtgcatccgGacatgctgctgcagagtgac	7	7	13	14	1	0	2	0	1	0	1	1	3	1	3	4	3	4	4	4	3	0	0			C3N-01021_TP	C3N-01021_NB	G	G																c.2130C>T	p.=	p.V710V	ENST00000614342	2/2	215	163	52	215	215	0	strelka-varscan-mutect	SALL2,synonymous_variant,p.=,ENST00000614342,NM_005407.2;SALL2,synonymous_variant,p.=,ENST00000450879,NM_001291447.1;SALL2,synonymous_variant,p.=,ENST00000546363,NM_001291446.1;SALL2,intron_variant,,ENST00000613414,;SALL2,intron_variant,,ENST00000611430,;SALL2,downstream_gene_variant,,ENST00000537235,;SALL2,downstream_gene_variant,,ENST00000541965,;AE000658.22,downstream_gene_variant,,ENST00000535893,;	A	ENST00000614342	Transcript	synonymous_variant	2425/4942	2130/3024	710/1007	V	gtC/gtT	COSM432843	1		-1	SALL2	HGNC	HGNC:10526	protein_coding	YES	CCDS32045.1	ENSP00000483562	Q9Y467		UPI0000135524	NM_005407.2			2/2		PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF15,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF12874,SMART_domains:SM00355											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	68	21523598	21523598	G	A	1	0	0	0	0	0	0	0	1	14070	1161	41	3		3	SALL2	14	21523598	Silent	SNP	G	C3N-01021_TP		21523598	85520120	22	21983											
SPTBN5	0	.	GRCh38	chr15	41887267	41887267	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcaggcgggagcagtagtgGtagtagagggagacgtaggt	10	7	20	4	2	0	2	0	0	0	2	0	4	0	3	0	5	2	6	0	5	4	4	novel		C3N-01021_TP	C3N-01021_NB	G	G																c.834C>A	p.Tyr278Ter	p.Y278*	ENST00000320955	6/68	380	339	41	439	438	1	strelka-varscan-mutect	SPTBN5,stop_gained,p.Tyr278Ter,ENST00000320955,NM_016642.3;	T	ENST00000320955	Transcript	stop_gained	1062/11725	834/11025	278/3674	Y/*	taC/taA		1		-1	SPTBN5	HGNC	HGNC:15680	protein_coding	YES	CCDS61599.1	ENSP00000317790	Q9NRC6		UPI0000E59BE4	NM_016642.3			6/68		PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF265,Gene3D:1.10.418.10,Pfam_domain:PF00307,Superfamily_domains:SSF47576																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	68	41887267	41887267	G	T	1	0	0	0	0	0	1	0	0	15478	1256	44	2		2	SPTBN5	15	41887267	Nonsense_Mutation	SNP	G	C3N-01021_TP		41887267	60103922	23	21984											
RBFOX1	0	.	GRCh38	chr16	7709077	7709077	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggacgagtttatgctgcCgacccctaccaccacgcact	9	8	8	16	4	0	0	0	0	0	0	0	3	0	1	5	1	4	3	5	1	3	4	rs148909710		C3N-01021_TP	C3N-01021_NB	C	C																c.1146C>T	p.=	p.A382A	ENST00000422070	15/16	270	239	31	290	290	0	strelka-varscan-mutect	RBFOX1,missense_variant,p.Pro400Leu,ENST00000547372,;RBFOX1,missense_variant,p.Pro378Leu,ENST00000355637,NM_145893.2;RBFOX1,missense_variant,p.Pro314Leu,ENST00000535565,;RBFOX1,missense_variant,p.Pro374Leu,ENST00000552089,;RBFOX1,missense_variant,p.Pro57Leu,ENST00000567470,;RBFOX1,synonymous_variant,p.=,ENST00000550418,NM_018723.3;RBFOX1,synonymous_variant,p.=,ENST00000340209,;RBFOX1,synonymous_variant,p.=,ENST00000620507,;RBFOX1,synonymous_variant,p.=,ENST00000311745,NM_145891.2;RBFOX1,synonymous_variant,p.=,ENST00000553186,NM_001142333.1;RBFOX1,synonymous_variant,p.=,ENST00000422070,NM_001308117.1;RBFOX1,synonymous_variant,p.=,ENST00000436368,NM_145892.2;RBFOX1,synonymous_variant,p.=,ENST00000547338,NM_001142334.1;RBFOX1,non_coding_transcript_exon_variant,,ENST00000570188,;	T	ENST00000422070	Transcript	synonymous_variant	1342/1684	1146/1278	382/425	A	gcC/gcT	rs148909710,COSM973908,COSM973909	1		1	RBFOX1	HGNC	HGNC:18222	protein_coding	YES	CCDS76818.1	ENSP00000391269		B7Z1U7	UPI0001914C99	NM_001308117.1			15/16		hmmpanther:PTHR15597:SF26,hmmpanther:PTHR15597,PIRSF_domain:PIRSF037932,Pfam_domain:PF12414											0,1,1						LOW	1	SNV	2		0,1,1	1										PASS		rs148909710	.												T	2	4	68	7709077	7709077	C	T	1	0	0	0	0	0	0	0	1	13271	652	23	1		1	RBFOX1	16	7709077	Silent	SNP	C	C3N-01021_TP		7709077	82629268	24	21985											
CBLN1	0	.	GRCh38	chr16	49281346	49281346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggggtcggacgtggggttGgagtcgcacaccaccaggca	7	6	18	10	3	0	0	0	0	0	0	2	2	0	2	2	7	0	3	2	7	0	1			C3N-01021_TP	C3N-01021_NB	G	G																c.120C>T	p.=	p.S40S	ENST00000219197	1/3	213	145	68	195	195	0	strelka-varscan-mutect	CBLN1,synonymous_variant,p.=,ENST00000219197,NM_004352.3;CBLN1,synonymous_variant,p.=,ENST00000536749,;CBLN1,synonymous_variant,p.=,ENST00000564786,;	A	ENST00000219197	Transcript	synonymous_variant	486/2435	120/582	40/193	S	tcC/tcT	COSM3509915	1		-1	CBLN1	HGNC	HGNC:1543	protein_coding	YES	CCDS10736.1	ENSP00000219197	P23435		UPI0000127506	NM_004352.3			1/3		hmmpanther:PTHR22923:SF5,hmmpanther:PTHR22923											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	68	49281346	49281346	G	A	1	0	0	0	0	0	0	0	1	2405	1335	47	3		3	CBLN1	16	49281346	Silent	SNP	G	C3N-01021_TP	41572269	49281346	41056999	25	21986											
RAD51C	0	.	GRCh38	chr17	58703235	58703235	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatttcactcttgataataTtctttctcatatttattatt	10	22	3	6	0	4	1	2	1	3	0	5	2	4	2	0	1	0	0	0	1	5	11	novel		C3N-01021_TP	C3N-01021_NB	T	T																c.611T>G	p.Ile204Ser	p.I204S	ENST00000337432	4/9	320	253	67	273	273	0	strelka-varscan-mutect	RAD51C,missense_variant,p.Ile204Ser,ENST00000337432,NM_058216.2;RAD51C,missense_variant,p.Ile204Ser,ENST00000583539,;RAD51C,missense_variant,p.Ile84Ser,ENST00000413590,;RAD51C,missense_variant,p.Ile87Ser,ENST00000461271,;RAD51C,missense_variant,p.Ile136Ser,ENST00000425173,;RAD51C,downstream_gene_variant,,ENST00000622327,;RAD51C,non_coding_transcript_exon_variant,,ENST00000487921,;RAD51C,3_prime_UTR_variant,,ENST00000475762,;RAD51C,3_prime_UTR_variant,,ENST00000487525,;RAD51C,3_prime_UTR_variant,,ENST00000482007,;RAD51C,3_prime_UTR_variant,,ENST00000584617,;	G	ENST00000337432	Transcript	missense_variant	682/2591	611/1131	204/376	I/S	aTt/aGt		1		1	RAD51C	HGNC	HGNC:9820	protein_coding	YES	CCDS11611.1	ENSP00000336701	O43502		UPI0000133007	NM_058216.2	deleterious(0)		4/9		PROSITE_profiles:PS50162,hmmpanther:PTHR22942:SF14,hmmpanther:PTHR22942,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005856,Pfam_domain:PF08423,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	68	58703235	58703235	T	G	1	0	0	0	0	1	0	0	0	13150	1493	52	5		5	RAD51C	17	58703235	Missense_Mutation	SNP	T	C3N-01021_TP		58703235	24554206	26	21987											
IMPACT	0	.	GRCh38	chr18	24430356	24430356	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagggcaagaacgtgcggatTtatcaaatagccttgaggaa	15	8	12	6	2	1	2	1	1	0	1	1	4	1	4	1	3	3	1	1	3	7	4	novel		C3N-01021_TP	C3N-01021_NB	T	T																c.253T>A	p.Leu85Ile	p.L85I	ENST00000284202	4/11	182	154	28	186	186	0	strelka-varscan-mutect	IMPACT,missense_variant,p.Leu85Ile,ENST00000284202,NM_018439.3;IMPACT,missense_variant,p.Leu67Ile,ENST00000585067,;IMPACT,missense_variant,p.Leu85Ile,ENST00000578221,;Y_RNA,downstream_gene_variant,,ENST00000362766,;IMPACT,non_coding_transcript_exon_variant,,ENST00000580706,;	A	ENST00000284202	Transcript	missense_variant	394/3792	253/963	85/320	L/I	Tta/Ata		1		1	IMPACT	HGNC	HGNC:20387	protein_coding	YES	CCDS11886.1	ENSP00000284202	Q9P2X3		UPI000007006B	NM_018439.3	tolerated(0.08)		4/11		Gene3D:3.10.110.10,Pfam_domain:PF05773,PROSITE_profiles:PS50908,hmmpanther:PTHR16301,hmmpanther:PTHR16301:SF6,SMART_domains:SM00591,Superfamily_domains:SSF54495																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	68	24430356	24430356	T	A	1	0	0	0	0	1	0	0	0	7626	1838	64	4		4	IMPACT	18	24430356	Missense_Mutation	SNP	T	C3N-01021_TP		24430356	55942929	27	21988											
MUC16	0	.	GRCh38	chr19	8966376	8966376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taatgccttggtctccagagGgcagagacactagtgaggtg	10	9	14	8	0	1	3	0	1	1	2	2	4	1	3	2	3	1	1	2	3	2	3	novel		C3N-01021_TP	C3N-01021_NB	G	G																c.10394C>T	p.Pro3465Leu	p.P3465L	ENST00000397910	3/84	434	369	65	420	420	0	strelka-varscan-mutect	MUC16,missense_variant,p.Pro3465Leu,ENST00000397910,NM_024690.2;	A	ENST00000397910	Transcript	missense_variant	10598/43816	10394/43524	3465/14507	P/L	cCc/cTc		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	68	8966376	8966376	G	A	1	0	0	0	0	1	0	0	0	9972	1232	43	3		3	MUC16	19	8966376	Missense_Mutation	SNP	G	C3N-01021_TP		8966376	49651240	28	21989											
ATP4A	0	.	GRCh38	chr19	35560573	35560573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccaccaccagttggtcagCgttgatctggaatttgtctc	7	12	10	12	1	3	1	1	1	2	0	4	2	3	2	3	2	1	2	3	2	1	3	rs781628677		C3N-01021_TP	C3N-01021_NB	C	C																c.577G>A	p.Ala193Thr	p.A193T	ENST00000262623	6/22	201	169	32	177	177	0	strelka-varscan-mutect	ATP4A,missense_variant,p.Ala193Thr,ENST00000262623,NM_000704.2;ATP4A,upstream_gene_variant,,ENST00000592131,;ATP4A,upstream_gene_variant,,ENST00000592767,;ATP4A,downstream_gene_variant,,ENST00000590916,;	T	ENST00000262623	Transcript	missense_variant	606/3709	577/3108	193/1035	A/T	Gct/Act	rs781628677,COSM4752759	1		-1	ATP4A	HGNC	HGNC:819	protein_coding	YES	CCDS12467.1	ENSP00000262623	P20648		UPI000016A49B	NM_000704.2	tolerated(0.12)		6/22		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01106,Gene3D:2.70.150.10,Superfamily_domains:0049471											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs781628677	.												T	3	4	68	35560573	35560573	C	T	1	0	0	0	0	1	0	0	0	1298	768	27	1		1	ATP4A	19	35560573	Missense_Mutation	SNP	C	C3N-01021_TP	26594197	35560573	23057043	29	21990											
CCDC8	0	.	GRCh38	chr19	46411370	46411371	+	Frame_Shift_Del	DEL	GG	GG	-																															cgaaaagcgtccaggggtctGgaacctcactgtcttgacct																								novel		C3N-01021_TP	C3N-01021_NB	GG	GG																c.1440_1441delCC	p.Phe480LeufsTer50	p.F480Lfs*50	ENST00000307522	1/1	329	300	29	368	368	0	sindel-varindel-pindel	CCDC8,frameshift_variant,p.Phe480LeufsTer50,ENST00000307522,NM_032040.4;	-	ENST00000307522	Transcript	frameshift_variant	2214-2215/3213	1440-1441/1617	480-481/538	FQ/LX	ttCCag/ttag		1		-1	CCDC8	HGNC	HGNC:25367	protein_coding	YES	CCDS12685.1	ENSP00000303158	Q9H0W5		UPI00000730F2	NM_032040.4			1/1		hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF2																	HIGH	1	deletion				1										PASS		.	.												-	7	5	68	46411370	46411370	GG	-	1	0	1	0	1	0	0	0	0	2551	1357	47	0		0	CCDC8	19	46411370	Frame_Shift_Del	DEL	GG	C3N-01021_TP	10850797	46411370	12206246	30	21991											
SULT2A1	0	.	GRCh38	chr19	47874835	47874835	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatggttcttcctgtgtcCtaaaaaagaaaaatcaagag	15	12	7	7	0	3	2	1	0	2	2	5	2	5	2	2	1	0	1	2	1	7	4	rs760732288		C3N-01021_TP	C3N-01021_NB	C	C																c.568-1G>T		p.X190_splice	ENST00000222002		111	104	7	113	112	1	varscan-mutect	SULT2A1,splice_acceptor_variant,,ENST00000222002,NM_003167.3;	A	ENST00000222002	Transcript	splice_acceptor_variant	-/1987	568/858	190/285			rs760732288	1		-1	SULT2A1	HGNC	HGNC:11458	protein_coding	YES	CCDS12707.1	ENSP00000222002	Q06520	A8K015	UPI000013C7E8	NM_003167.3				4/5																		HIGH	1	SNV	1			1										PASS		rs760732288	.												A	5	1	68	47874835	47874835	C	A	1	0	0	0	0	0	0	1	0	15767	695	24	2		2	SULT2A1	19	47874835	Splice_Site	SNP	C	C3N-01021_TP	1463465	47874835	10742781	31	21992											
CDH4	0	.	GRCh38	chr20	61844676	61844676	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctttcagatccggtcCgacaaagacaatgacatccc	11	8	7	15	2	1	3	1	1	0	2	4	4	4	3	5	1	1	0	5	1	2	1	rs374076466		C3N-01021_TP	C3N-01021_NB	C	C																c.585C>T	p.=	p.S195S	ENST00000614565	5/16	69	55	14	90	90	0	strelka-varscan-mutect	CDH4,synonymous_variant,p.=,ENST00000614565,NM_001794.4;CDH4,synonymous_variant,p.=,ENST00000611855,;CDH4,synonymous_variant,p.=,ENST00000543233,NM_001252338.2,NM_001252339.2;	T	ENST00000614565	Transcript	synonymous_variant	673/6513	585/2751	195/916	S	tcC/tcT	rs374076466,COSM5336643	1		1	CDH4	HGNC	HGNC:1763	protein_coding	YES	CCDS13488.1	ENSP00000484928	P55283		UPI000015FE86	NM_001794.4			5/16		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF81,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1						LOW	1	SNV	1		0,1	1										PASS		rs374076466	.												T	2	4	68	61844676	61844676	C	T	1	0	0	0	0	0	0	0	1	2815	639	23	1		1	CDH4	20	61844676	Silent	SNP	C	C3N-01021_TP		61844676	2599491	32	21993											
TENM1	0	.	GRCh38	chrX	124671690	124671690	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatcactgtaccttttttCtctgatttatcagaaacttt	9	20	4	8	0	3	3	2	2	1	1	4	3	3	3	1	0	2	1	1	0	3	8			C3N-01021_TP	C3N-01021_NB	C	C																c.1161G>A	p.=	p.E387E	ENST00000422452	6/32	98	89	9	106	105	1	varscan-mutect	TENM1,synonymous_variant,p.=,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,synonymous_variant,p.=,ENST00000371130,NM_014253.3;	T	ENST00000422452	Transcript	synonymous_variant	1225/12891	1161/8199	387/2732	E	gaG/gaA	COSM3557566,COSM4903907	1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1			6/32		hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1402592486	.												T	2	4	68	124671690	124671690	C	T	1	0	0	0	0	0	0	0	1	16171	912	32	3		3	TENM1	23	124671690	Silent	SNP	C	C3N-01021_TP		124671690	31369205	33	21994											
EPHA8	0	.	GRCh38	chr1	22601693	22601693	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgggcagcattcagacCatgcgggcccagctgaccag	9	6	12	14	1	1	2	1	1	0	1	2	2	2	2	4	2	3	3	4	2	0	1			C3N-01023_TP	C3N-01023_NB	C	C																c.2970C>G	p.=	p.T990T	ENST00000166244	17/17	332	286	46	286	285	1	strelka-varscan-mutect	EPHA8,synonymous_variant,p.=,ENST00000166244,NM_020526.3;	G	ENST00000166244	Transcript	synonymous_variant	3042/4943	2970/3018	990/1005	T	acC/acG	COSM3667475	1		1	EPHA8	HGNC	HGNC:3391	protein_coding	YES	CCDS225.1	ENSP00000166244	P29322		UPI000012A07B	NM_020526.3			17/17		PROSITE_profiles:PS50105,hmmpanther:PTHR24416:SF339,hmmpanther:PTHR24416,Pfam_domain:PF00536,Gene3D:1.10.150.50,PIRSF_domain:PIRSF000666,SMART_domains:SM00454,Superfamily_domains:SSF47769											1						LOW	1	SNV	2		1	1										PASS		.	.												G	2	3	69	22601693	22601693	C	G	1	0	0	0	0	0	0	0	1	5020	581	21	4		4	EPHA8	1	22601693	Silent	SNP	C	C3N-01023_TP		22601693	226354729	1	21995											
PAQR7	0	.	GRCh38	chr1	25863624	25863624	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggtccagacattcacGgcctcgttgtgctgctggaa	7	10	14	10	2	1	1	1	0	0	1	3	2	2	2	2	4	2	3	2	4	1	2	rs376473466		C3N-01023_TP	C3N-01023_NB	G	G																c.216C>T	p.=	p.A72A	ENST00000374296	2/2	166	140	26	130	130	0	strelka-varscan-mutect	PAQR7,synonymous_variant,p.=,ENST00000374296,NM_178422.5;AUNIP,upstream_gene_variant,,ENST00000374298,NM_024037.2;AUNIP,upstream_gene_variant,,ENST00000538789,NM_001287490.1;RP1-125I3.2,downstream_gene_variant,,ENST00000455431,;	A	ENST00000374296	Transcript	synonymous_variant	883/3297	216/1041	72/346	A	gcC/gcT	rs376473466,COSM51607	1		-1	PAQR7	HGNC	HGNC:23146	protein_coding	YES	CCDS267.1	ENSP00000363414	Q86WK9		UPI000000D789	NM_178422.5			2/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR20855:SF41,hmmpanther:PTHR20855,Pfam_domain:PF03006											0,1						LOW	1	SNV	1		0,1	1										PASS		rs376473466	.												A	2	1	69	25863624	25863624	G	A	1	0	0	0	0	0	0	0	1	11520	1103	39	1		1	PAQR7	1	25863624	Silent	SNP	G	C3N-01023_TP	3261931	25863624	223092798	2	21996											
AGBL4	0	.	GRCh38	chr1	48534256	48534256	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagttgctggctgggccccGcaggagtgggtgcttgtaag	5	10	18	8	1	0	0	0	0	0	0	0	1	0	1	2	4	2	7	2	4	2	4	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.1429C>A	p.=	p.R477R	ENST00000371839	14/14	162	131	31	114	114	0	strelka-varscan-mutect	AGBL4,synonymous_variant,p.=,ENST00000371839,NM_032785.3;AGBL4,synonymous_variant,p.=,ENST00000334103,;	T	ENST00000371839	Transcript	synonymous_variant	1546/2947	1429/1512	477/503	R	Cgg/Agg		1		-1	AGBL4	HGNC	HGNC:25892	protein_coding	YES	CCDS44137.1	ENSP00000360905	Q5VU57		UPI00002042F9	NM_032785.3			14/14		hmmpanther:PTHR12756																	LOW	1	SNV	2			1										PASS		rs947029939	.												T	2	4	69	48534256	48534256	G	T	1	0	0	0	0	0	0	0	1	454	1086	38	1		1	AGBL4	1	48534256	Silent	SNP	G	C3N-01023_TP	22670632	48534256	200422166	3	21997											
BTBD8	0	.	GRCh38	chr1	92080639	92080639	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccgctggagtttgcagtaAggggttgcaaaggaaggggc	9	8	18	6	1	0	0	0	0	0	0	1	2	1	2	1	6	2	6	1	6	3	3	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.68A>T	p.Lys23Met	p.K23M	ENST00000342818	1/9	256	217	39	226	226	0	strelka-varscan-mutect	BTBD8,missense_variant,p.Lys23Met,ENST00000636805,;BTBD8,missense_variant,p.Lys23Met,ENST00000342818,NM_183242.3;BTBD8,missense_variant,p.Lys23Met,ENST00000635934,;BTBD8,non_coding_transcript_exon_variant,,ENST00000370382,;	T	ENST00000342818	Transcript	missense_variant	304/1412	68/1137	23/378	K/M	aAg/aTg		1		1	BTBD8	HGNC	HGNC:21019	protein_coding	YES	CCDS737.1	ENSP00000343686	Q5XKL5		UPI000014114A	NM_183242.3	deleterious(0)		1/9		hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF34																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	92080639	92080639	A	T	1	0	0	0	0	1	0	0	0	1723	72	3	4		4	BTBD8	1	92080639	Missense_Mutation	SNP	A	C3N-01023_TP	43546383	92080639	156875783	4	21998											
TRMT13	0	.	GRCh38	chr1	100148292	100148292	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgatgatggaggatacAgaatcacagatgatggcgct	14	8	13	6	1	1	5	1	3	0	2	1	7	1	7	0	3	2	2	0	3	2	1	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.1216A>G	p.Arg406Gly	p.R406G	ENST00000370141	10/11	115	93	22	90	90	0	strelka-varscan-mutect	TRMT13,missense_variant,p.Arg406Gly,ENST00000370141,NM_019083.2;LRRC39,downstream_gene_variant,,ENST00000620882,;LRRC39,downstream_gene_variant,,ENST00000342895,NM_001256387.1;LRRC39,downstream_gene_variant,,ENST00000370138,NM_001256385.1;LRRC39,downstream_gene_variant,,ENST00000370137,NM_001256386.1,NM_144620.3;TRMT13,downstream_gene_variant,,ENST00000493651,;TRMT13,downstream_gene_variant,,ENST00000482437,;	G	ENST00000370141	Transcript	missense_variant	1222/3129	1216/1446	406/481	R/G	Aga/Gga		1		1	TRMT13	HGNC	HGNC:25502	protein_coding	YES	CCDS765.1	ENSP00000359160	Q9NUP7		UPI000013CAE6	NM_019083.2	tolerated(0.17)		10/11		hmmpanther:PTHR12998:SF0,hmmpanther:PTHR12998,Pfam_domain:PF05206																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	69	100148292	100148292	A	G	1	0	0	0	0	1	0	0	0	17067	180	7	5		5	TRMT13	1	100148292	Missense_Mutation	SNP	A	C3N-01023_TP	8067653	100148292	148808130	5	21999											
VAV3	0	.	GRCh38	chr1	107964749	107964749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagctggcagagcaggaCtccatcgcggagggtctgcg	9	5	16	11	3	1	1	0	0	1	1	3	3	2	3	1	4	4	4	1	4	1	0	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.121G>T	p.Val41Phe	p.V41F	ENST00000370056	1/27	254	240	14	219	218	1	strelka-varscan-mutect	VAV3,missense_variant,p.Val41Phe,ENST00000370056,NM_006113.4;VAV3,missense_variant,p.Val41Phe,ENST00000527011,;VAV3,missense_variant,p.Val36Phe,ENST00000490388,;VAV3-AS1,intron_variant,,ENST00000438318,;VAV3,upstream_gene_variant,,ENST00000469325,;VAV3,upstream_gene_variant,,ENST00000530671,;	A	ENST00000370056	Transcript	missense_variant	396/4990	121/2544	41/847	V/F	Gtc/Ttc		1		-1	VAV3	HGNC	HGNC:12659	protein_coding	YES	CCDS785.1	ENSP00000359073	Q9UKW4		UPI0000138212	NM_006113.4	deleterious(0)		1/27		PROSITE_profiles:PS50021,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF97,Pfam_domain:PF11971,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576,Prints_domain:PR00888																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	107964749	107964749	C	A	1	0	0	0	0	1	0	0	0	17678	565	20	2		2	VAV3	1	107964749	Missense_Mutation	SNP	C	C3N-01023_TP	7816457	107964749	140991673	6	22000											
PPM1J	0	.	GRCh38	chr1	112715098	112715098	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgcagaaaggtcggtctGgagaagctcgctcgagcctc	9	7	14	11	3	1	2	0	0	1	2	5	4	1	2	1	3	4	4	1	3	2	0	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.204C>A	p.=	p.S68S	ENST00000309276	1/10	150	127	23	122	122	0	strelka-varscan-mutect	PPM1J,synonymous_variant,p.=,ENST00000309276,NM_005167.5;PPM1J,5_prime_UTR_variant,,ENST00000464951,;RP11-426L16.10,upstream_gene_variant,,ENST00000606505,;RP11-426L16.10,upstream_gene_variant,,ENST00000605933,;RP11-426L16.9,upstream_gene_variant,,ENST00000566195,;RP11-426L16.10,upstream_gene_variant,,ENST00000471038,;PPM1J,synonymous_variant,p.=,ENST00000471106,;PPM1J,synonymous_variant,p.=,ENST00000482367,;PPM1J,non_coding_transcript_exon_variant,,ENST00000486709,;RP11-426L16.10,upstream_gene_variant,,ENST00000607158,;RP11-426L16.10,upstream_gene_variant,,ENST00000606954,;	T	ENST00000309276	Transcript	synonymous_variant	380/1863	204/1518	68/505	S	tcC/tcA		1		-1	PPM1J	HGNC	HGNC:20785	protein_coding	YES	CCDS855.2	ENSP00000308926	Q5JR12		UPI000013EE69	NM_005167.5			1/10		hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF305																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	69	112715098	112715098	G	T	1	0	0	0	0	0	0	0	1	12452	1335	47	2		2	PPM1J	1	112715098	Silent	SNP	G	C3N-01023_TP	4750349	112715098	136241324	7	22001											
TBX15	0	.	GRCh38	chr1	118885240	118885240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggcatgaaggtttcagagGgctgagtggctgaagtggtg	9	9	19	4	0	1	4	1	3	0	1	1	5	1	4	0	5	0	4	0	5	2	1	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.983C>A	p.Pro328His	p.P328H	ENST00000207157	8/8	497	426	71	437	437	0	strelka-varscan-mutect	TBX15,missense_variant,p.Pro434His,ENST00000369429,;TBX15,missense_variant,p.Pro328His,ENST00000207157,NM_152380.2;TBX15,missense_variant,p.Pro162His,ENST00000449873,;	T	ENST00000207157	Transcript	missense_variant	1298/3492	983/1491	328/496	P/H	cCc/cAc		1		-1	TBX15	HGNC	HGNC:11594	protein_coding	YES	CCDS30816.1	ENSP00000207157	Q96SF7		UPI000046D38E	NM_152380.2	tolerated(0.06)		8/8		hmmpanther:PTHR11267:SF98,hmmpanther:PTHR11267																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	118885240	118885240	G	T	1	0	0	0	0	1	0	0	0	16057	1232	43	2		2	TBX15	1	118885240	Missense_Mutation	SNP	G	C3N-01023_TP	6170142	118885240	130071182	8	22002											
FLG2	0	.	GRCh38	chr1	152357544	152357544	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttgcaggccatagtcAgcttgaatatcatcaaaaga	13	11	8	9	0	3	2	3	1	0	1	3	2	3	2	2	1	2	3	2	1	5	5	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.242T>A	p.Leu81Gln	p.L81Q	ENST00000388718	3/3	422	383	39	203	203	0	strelka-varscan-mutect	FLG2,missense_variant,p.Leu81Gln,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,;	T	ENST00000388718	Transcript	missense_variant	315/9124	242/7176	81/2391	L/Q	cTg/cAg		1		-1	FLG2	HGNC	HGNC:33276	protein_coding	YES	CCDS30861.1	ENSP00000373370	Q5D862		UPI00004E1DE5	NM_001014342.2	deleterious(0)		3/3		PROSITE_profiles:PS50222,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	69	152357544	152357544	A	T	1	0	0	0	0	1	0	0	0	5785	188	7	4		4	FLG2	1	152357544	Missense_Mutation	SNP	A	C3N-01023_TP	33472304	152357544	96598878	9	22003											
TPM3	0	.	GRCh38	chr1	154191968	154191968	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcccgatccagagcattCtccttgtctaacttcagcat	8	13	6	14	1	4	1	1	0	3	1	6	2	5	1	3	0	4	2	3	0	1	4	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.51G>T	p.Glu17Asp	p.E17D	ENST00000368530	1/10	733	667	66	451	450	1	strelka-varscan-mutect	TPM3,missense_variant,p.Glu17Asp,ENST00000368530,NM_152263.3;TPM3,missense_variant,p.Glu17Asp,ENST00000271850,;TPM3,missense_variant,p.Glu17Asp,ENST00000515609,;MIR190B,downstream_gene_variant,,ENST00000401119,;TPM3,upstream_gene_variant,,ENST00000466010,;	A	ENST00000368530	Transcript	missense_variant	244/1523	51/858	17/285	E/D	gaG/gaT		1		-1	TPM3	HGNC	HGNC:12012	protein_coding	YES	CCDS41403.1	ENSP00000357516	P06753		UPI000013D90D	NM_152263.3	tolerated(0.28)		1/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19269:SF38,hmmpanther:PTHR19269,Gene3D:1.20.5.340,Superfamily_domains:SSF57997																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	154191968	154191968	C	A	1	0	0	0	0	1	0	0	0	16888	912	32	2		2	TPM3	1	154191968	Missense_Mutation	SNP	C	C3N-01023_TP	1834424	154191968	94764454	10	22004											
RHBG	0	.	GRCh38	chr1	156382156	156382156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtcctgggggccctcctggGggtccttgtggctggacttg	1	11	18	11	0	0	0	0	0	0	0	3	1	3	1	4	7	0	1	4	7	0	2	rs756230851		C3N-01023_TP	C3N-01023_NB	G	G																c.1067G>T	p.Gly356Val	p.G356V	ENST00000537040	7/10	191	169	22	124	123	1	strelka-varscan-mutect	RHBG,missense_variant,p.Gly356Val,ENST00000537040,NM_001256395.1,NM_020407.4,NM_001256396.1;RHBG,non_coding_transcript_exon_variant,,ENST00000494874,;RHBG,3_prime_UTR_variant,,ENST00000620376,;RHBG,3_prime_UTR_variant,,ENST00000451864,;RHBG,3_prime_UTR_variant,,ENST00000613460,;RHBG,3_prime_UTR_variant,,ENST00000612897,;RHBG,non_coding_transcript_exon_variant,,ENST00000618120,;RHBG,upstream_gene_variant,,ENST00000622297,;	T	ENST00000537040	Transcript	missense_variant	1105/1789	1067/1377	356/458	G/V	gGg/gTg	rs756230851	1		1	RHBG	HGNC	HGNC:14572	protein_coding	YES		ENSP00000441197	Q9H310		UPI000004F267	NM_001256395.1,NM_020407.4,NM_001256396.1	deleterious(0)		7/10		Superfamily_domains:0044218,Gene3D:1.10.3430.10,Pfam_domain:PF00909,Prints_domain:PR00342,hmmpanther:PTHR11730,hmmpanther:PTHR11730:SF42,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs756230851	.												T	3	4	69	156382156	156382156	G	T	1	0	0	0	0	1	0	0	0	13496	1232	43	2		2	RHBG	1	156382156	Missense_Mutation	SNP	G	C3N-01023_TP	2190188	156382156	92574266	11	22005											
SPTA1	0	.	GRCh38	chr1	158644361	158644361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaattctcacgtgccaccatCcagctctcaacttgatcaca	11	10	5	15	1	3	1	3	1	2	0	6	2	4	1	3	0	3	1	3	0	2	2			C3N-01023_TP	C3N-01023_NB	C	C																c.4230G>T	p.Trp1410Cys	p.W1410C	ENST00000368147	30/52	496	449	47	260	260	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Trp1410Cys,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000465741,;	A	ENST00000368147	Transcript	missense_variant	4411/7999	4230/7260	1410/2419	W/C	tgG/tgT	COSM4605342	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0)		30/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	69	158644361	158644361	C	A	1	0	0	0	0	1	0	0	0	15472	856	30	2		2	SPTA1	1	158644361	Missense_Mutation	SNP	C	C3N-01023_TP	2262205	158644361	90312061	12	22006											
VSIG8	0	.	GRCh38	chr1	159855995	159855995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccgcagcagcagcagaCgagcccccagatgcctacgg	9	2	12	18	3	0	2	0	0	0	2	0	3	0	2	5	1	6	4	5	1	1	1	rs199554966		C3N-01023_TP	C3N-01023_NB	C	C																c.859G>A	p.Val287Ile	p.V287I	ENST00000368100	6/7	454	306	148	204	204	0	strelka-varscan-mutect	VSIG8,missense_variant,p.Val287Ile,ENST00000368100,NM_001013661.1;C1orf204,upstream_gene_variant,,ENST00000368102,NM_001134233.1;C1orf204,upstream_gene_variant,,ENST00000621242,;SNORD64,upstream_gene_variant,,ENST00000390859,;C1orf204,upstream_gene_variant,,ENST00000491974,;RP11-190A12.7,downstream_gene_variant,,ENST00000537167,;RP11-190A12.7,downstream_gene_variant,,ENST00000536764,;RP11-190A12.7,downstream_gene_variant,,ENST00000543372,;RP11-190A12.7,downstream_gene_variant,,ENST00000544342,;RP11-190A12.7,downstream_gene_variant,,ENST00000536779,;	T	ENST00000368100	Transcript	missense_variant	995/1818	859/1245	287/414	V/I	Gtc/Atc	rs199554966	1		-1	VSIG8	HGNC	HGNC:32063	protein_coding	YES	CCDS30913.1	ENSP00000357080	Q5VU13		UPI0000458A8F	NM_001013661.1	tolerated(0.7)		6/7		Transmembrane_helices:TMhelix,hmmpanther:PTHR12231:SF142,hmmpanther:PTHR12231																	MODERATE	1	SNV	1			1										PASS		rs199554966	.												T	3	4	69	159855995	159855995	C	T	1	0	0	0	0	1	0	0	0	17777	536	19	1		1	VSIG8	1	159855995	Missense_Mutation	SNP	C	C3N-01023_TP	1211634	159855995	89100427	13	22007											
DHX9	0	.	GRCh38	chr1	182887219	182887219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatggtagcggaggctatGgtggcagcgccaactccttt	7	10	14	10	2	0	0	0	0	0	0	1	1	1	1	2	5	3	4	2	5	4	4			C3N-01023_TP	C3N-01023_NB	G	G																c.3598G>T	p.Gly1200Cys	p.G1200C	ENST00000367549	28/28	637	391	246	376	376	0	strelka-varscan-mutect	DHX9,missense_variant,p.Gly1200Cys,ENST00000367549,NM_001357.4;DHX9,non_coding_transcript_exon_variant,,ENST00000485081,;DHX9,non_coding_transcript_exon_variant,,ENST00000473076,;	T	ENST00000367549	Transcript	missense_variant	3708/4240	3598/3813	1200/1270	G/C	Ggt/Tgt	COSM5160935	1		1	DHX9	HGNC	HGNC:2750	protein_coding	YES	CCDS41444.1	ENSP00000356520	Q08211		UPI00001AEF15	NM_001357.4	tolerated(0.13)		28/28		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF119,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	69	182887219	182887219	G	T	1	0	0	0	0	1	0	0	0	4320	1348	47	2		2	DHX9	1	182887219	Missense_Mutation	SNP	G	C3N-01023_TP	23031224	182887219	66069203	14	22008											
NMNAT2	0	.	GRCh38	chr1	183278615	183278615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtcactaccacacagcaGcaggatccgtagctctgagg	11	6	11	13	1	2	1	1	1	1	0	3	2	3	2	2	3	4	4	2	3	2	2	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.589C>A	p.Leu197Met	p.L197M	ENST00000287713	8/11	344	315	29	183	183	0	strelka-varscan-mutect	NMNAT2,missense_variant,p.Leu197Met,ENST00000287713,NM_015039.3;NMNAT2,missense_variant,p.Leu192Met,ENST00000294868,NM_170706.3;NMNAT2,non_coding_transcript_exon_variant,,ENST00000464047,;NMNAT2,downstream_gene_variant,,ENST00000473046,;	T	ENST00000287713	Transcript	missense_variant	924/5663	589/924	197/307	L/M	Ctg/Atg		1		-1	NMNAT2	HGNC	HGNC:16789	protein_coding	YES	CCDS1353.1	ENSP00000287713	Q9BZQ4		UPI00000706AB	NM_015039.3	deleterious(0)		8/11		Gene3D:3.40.50.620,Pfam_domain:PF01467,hmmpanther:PTHR12039,hmmpanther:PTHR12039:SF2,Low_complexity_(Seg):seg,Superfamily_domains:SSF52374																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	183278615	183278615	G	T	1	0	0	0	0	1	0	0	0	10538	962	34	2		2	NMNAT2	1	183278615	Missense_Mutation	SNP	G	C3N-01023_TP	391396	183278615	65677807	15	22009											
PTPN7	0	.	GRCh38	chr1	202158224	202158224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgtagggtgacctcccggGgtgtgttcacagagcagatg	8	9	16	8	1	1	3	1	1	0	2	2	3	2	3	2	3	1	3	2	3	1	2	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.515C>A	p.Pro172His	p.P172H	ENST00000309017	3/10	337	308	29	190	190	0	strelka-mutect	PTPN7,missense_variant,p.Pro172His,ENST00000309017,NM_002832.3;PTPN7,missense_variant,p.Pro106His,ENST00000367279,NM_080588.2;PTPN7,missense_variant,p.Pro148His,ENST00000477554,NM_001199797.1;PTPN7,missense_variant,p.Pro67His,ENST00000467283,;PTPN7,missense_variant,p.Pro67His,ENST00000492451,;PTPN7,missense_variant,p.Pro67His,ENST00000486116,;PTPN7,missense_variant,p.Pro46His,ENST00000476061,;PTPN7,missense_variant,p.Pro67His,ENST00000464870,;PTPN7,missense_variant,p.Pro67His,ENST00000629151,;PTPN7,synonymous_variant,p.=,ENST00000435759,;PTPN7,intron_variant,,ENST00000477625,;PTPN7,non_coding_transcript_exon_variant,,ENST00000492977,;PTPN7,intron_variant,,ENST00000479092,;PTPN7,missense_variant,p.Pro67His,ENST00000495688,;PTPN7,missense_variant,p.Pro67His,ENST00000462815,;PTPN7,synonymous_variant,p.=,ENST00000496197,;PTPN7,non_coding_transcript_exon_variant,,ENST00000491584,;PTPN7,intron_variant,,ENST00000480836,;PTPN7,downstream_gene_variant,,ENST00000468385,;	T	ENST00000309017	Transcript	missense_variant	1289/3765	515/1398	172/465	P/H	cCc/cAc		1		-1	PTPN7	HGNC	HGNC:9659	protein_coding	YES	CCDS1423.2	ENSP00000309116	P35236		UPI00004701F6	NM_002832.3	deleterious(0)		3/10		hmmpanther:PTHR19134:SF41,hmmpanther:PTHR19134,Prints_domain:PR01778																	MODERATE	1	SNV	1			1										PASS		rs1444845146	.												T	3	4	69	202158224	202158224	G	T	1	0	0	0	0	1	0	0	0	12947	1232	43	2		2	PTPN7	1	202158224	Missense_Mutation	SNP	G	C3N-01023_TP	18879609	202158224	46798198	16	22010											
MARK1	0	.	GRCh38	chr1	220631092	220631092	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaggaagaactaaagccaTatactgagcctgatccggat	16	7	10	8	1	0	4	0	2	0	2	1	6	1	6	3	2	4	0	3	2	7	3	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.967T>C	p.Tyr323His	p.Y323H	ENST00000611084	10/18	218	198	20	144	144	0	strelka-varscan-mutect	MARK1,missense_variant,p.Tyr323His,ENST00000611084,NM_001286124.1;MARK1,missense_variant,p.Tyr323His,ENST00000402574,NM_001286126.1;MARK1,missense_variant,p.Tyr301His,ENST00000366918,NM_001286128.1;MARK1,missense_variant,p.Tyr323His,ENST00000366917,NM_018650.4;HDAC1P2,downstream_gene_variant,,ENST00000602936,;HDAC1P2,downstream_gene_variant,,ENST00000453661,;	C	ENST00000611084	Transcript	missense_variant	1607/5321	967/2391	323/796	Y/H	Tat/Cat		1		1	MARK1	HGNC	HGNC:6896	protein_coding	YES	CCDS73033.1	ENSP00000483424		A0A087X0I6	UPI0000E592B1	NM_001286124.1	tolerated(0.15)		10/18		hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF21																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	69	220631092	220631092	T	C	1	0	0	0	0	1	0	0	0	9237	1406	49	5		5	MARK1	1	220631092	Missense_Mutation	SNP	T	C3N-01023_TP	18472868	220631092	28325330	17	22011											
RYR2	0	.	GRCh38	chr1	237795288	237795288	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcttttgtatattttaGgtcatttcccaacaactact	10	18	4	9	0	1	0	1	0	0	0	2	0	2	0	1	1	4	2	1	1	7	9	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.13914-1G>T		p.X4638_splice	ENST00000366574		91	64	27	78	78	0	strelka-varscan-mutect	RYR2,splice_acceptor_variant,,ENST00000366574,NM_001035.2;RYR2,splice_acceptor_variant,,ENST00000360064,;RYR2,splice_acceptor_variant,,ENST00000608590,;RYR2,upstream_gene_variant,,ENST00000466626,;	T	ENST00000366574	Transcript	splice_acceptor_variant	-/16562	13914/14904	4638/4967				1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2				95/104																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	69	237795288	237795288	G	T	1	0	0	0	0	0	0	1	0	14029	1014	35	2		2	RYR2	1	237795288	Splice_Site	SNP	G	C3N-01023_TP	17164196	237795288	11161134	18	22012											
TPO	0	.	GRCh38	chr2	1493888	1493888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatcgccagcaggagcgtgGccgacaagatcctggacttg	9	6	13	13	3	0	1	0	0	0	1	2	4	1	3	4	3	2	1	4	3	1	1			C3N-01023_TP	C3N-01023_NB	G	G																c.1855G>T	p.Ala619Ser	p.A619S	ENST00000345913	11/17	503	420	83	300	300	0	strelka-varscan-mutect	TPO,missense_variant,p.Ala548Ser,ENST00000422464,;TPO,missense_variant,p.Ala619Ser,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Ala619Ser,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Ala562Ser,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,missense_variant,p.Ala619Ser,ENST00000346956,NM_175721.3;TPO,missense_variant,p.Ala446Ser,ENST00000382198,NM_175722.3;TPO,missense_variant,p.Ala94Ser,ENST00000446278,;TPO,missense_variant,p.Ala93Ser,ENST00000469607,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;TPO,non_coding_transcript_exon_variant,,ENST00000462973,;	T	ENST00000345913	Transcript	missense_variant	1946/3145	1855/2802	619/933	A/S	Gcc/Tcc	COSM5133334,COSM5133335	1		1	TPO	HGNC	HGNC:12015	protein_coding	YES	CCDS1643.1	ENSP00000318820	P07202		UPI000013D480	NM_000547.5	tolerated(0.07)		11/17		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF60,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	69	1493888	1493888	G	T	1	0	0	0	0	1	0	0	0	16891	1203	42	2		2	TPO	2	1493888	Missense_Mutation	SNP	G	C3N-01023_TP		1493888	240699641	19	22013											
OTOF	0	.	GRCh38	chr2	26460103	26460103	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaggaggagcagcagcagGagcagcaacagtttgaggag	14	3	18	6	0	0	1	0	1	0	0	0	6	0	6	0	5	6	6	0	5	1	1	rs753228900		C3N-01023_TP	C3N-01023_NB	G	G																c.5916C>A	p.=	p.L1972L	ENST00000272371	46/47	269	207	62	157	157	0	strelka-varscan-mutect	OTOF,synonymous_variant,p.=,ENST00000272371,NM_194248.2;OTOF,synonymous_variant,p.=,ENST00000402415,NM_194322.2;OTOF,synonymous_variant,p.=,ENST00000338581,NM_004802.3;OTOF,intron_variant,,ENST00000403946,NM_001287489.1;OTOF,intron_variant,,ENST00000339598,NM_194323.2;DRC1,downstream_gene_variant,,ENST00000288710,NM_145038.3;OTOF,downstream_gene_variant,,ENST00000464574,;	T	ENST00000272371	Transcript	synonymous_variant	6043/7156	5916/5994	1972/1997	L	ctC/ctA	rs753228900	1		-1	OTOF	HGNC	HGNC:8515	protein_coding	YES	CCDS1725.1	ENSP00000272371	Q9HC10		UPI000013D94D	NM_194248.2			46/47		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32,Pfam_domain:PF16165																	LOW	1	SNV	1			1										PASS		rs753228900	.												T	2	4	69	26460103	26460103	G	T	1	0	0	0	0	0	0	0	1	11369	1161	41	2		2	OTOF	2	26460103	Silent	SNP	G	C3N-01023_TP	24966215	26460103	215733426	20	22014											
PPM1B	0	.	GRCh38	chr2	44230498	44230498	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattaatcataggggaaactAccgacaacttctggaggaga	16	8	10	7	1	2	1	1	0	1	1	2	5	2	3	1	4	3	0	1	4	6	4	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.1220A>G	p.Tyr407Cys	p.Y407C	ENST00000282412	6/6	475	373	102	270	270	0	strelka-varscan-mutect	PPM1B,missense_variant,p.Tyr407Cys,ENST00000282412,NM_002706.5;PPM1B,missense_variant,p.Tyr120Cys,ENST00000345249,NM_177969.3;PPM1B,3_prime_UTR_variant,,ENST00000409432,NM_001033557.2;PPM1B,intron_variant,,ENST00000378551,NM_177968.3;PPM1B,intron_variant,,ENST00000378540,;PPM1B,intron_variant,,ENST00000459690,;PPM1B,intron_variant,,ENST00000487286,;	G	ENST00000282412	Transcript	missense_variant	1632/2606	1220/1440	407/479	Y/C	tAc/tGc		1		1	PPM1B	HGNC	HGNC:9276	protein_coding	YES	CCDS1817.1	ENSP00000282412	O75688		UPI0000130FE7	NM_002706.5	deleterious_low_confidence(0)		6/6																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	69	44230498	44230498	A	G	1	0	0	0	0	1	0	0	0	12446	391	14	5		5	PPM1B	2	44230498	Missense_Mutation	SNP	A	C3N-01023_TP	17770395	44230498	197963031	21	22015											
EML6	0	.	GRCh38	chr2	54962631	54962631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggggagatctggggcCtggccactcacccttccaag	8	7	14	12	0	2	1	1	0	1	1	3	3	3	2	4	6	0	0	4	6	2	1	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.5077C>A	p.Leu1693Met	p.L1693M	ENST00000356458	35/41	140	108	32	118	118	0	strelka-varscan-mutect	EML6,missense_variant,p.Leu1693Met,ENST00000356458,NM_001039753.2;EML6,non_coding_transcript_exon_variant,,ENST00000490828,;EML6,downstream_gene_variant,,ENST00000481376,;EML6,upstream_gene_variant,,ENST00000488611,;EML6,upstream_gene_variant,,ENST00000472965,;	A	ENST00000356458	Transcript	missense_variant	5597/8320	5077/5877	1693/1958	L/M	Ctg/Atg		1		1	EML6	HGNC	HGNC:35412	protein_coding	YES	CCDS46286.1	ENSP00000348842	Q6ZMW3		UPI00006C0432	NM_001039753.2	deleterious(0)		35/41		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF8,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	69	54962631	54962631	C	A	1	0	0	0	0	1	0	0	0	4944	680	24	2		2	EML6	2	54962631	Missense_Mutation	SNP	C	C3N-01023_TP	10732133	54962631	187230898	22	22016											
EXOC6B	0	.	GRCh38	chr2	72179355	72179355	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgagtggtggctgctgaTgagtcctcggagctgcttgg	5	12	16	8	1	1	3	1	3	0	0	3	4	2	4	1	4	3	4	1	4	0	1	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.2416A>T	p.Ile806Phe	p.I806F	ENST00000272427	22/22	122	98	24	79	79	0	strelka-varscan-mutect	EXOC6B,missense_variant,p.Ile806Phe,ENST00000272427,NM_001321729.1,NM_001321734.1,NM_015189.1;EXOC6B,missense_variant,p.Ile810Phe,ENST00000634650,;EXOC6B,non_coding_transcript_exon_variant,,ENST00000490919,;EXOC6B,non_coding_transcript_exon_variant,,ENST00000471335,;EXOC6B,non_coding_transcript_exon_variant,,ENST00000492257,;	A	ENST00000272427	Transcript	missense_variant	2547/5918	2416/2436	806/811	I/F	Atc/Ttc		1		-1	EXOC6B	HGNC	HGNC:17085	protein_coding	YES	CCDS46333.1	ENSP00000272427	Q9Y2D4		UPI000046995C	NM_001321729.1,NM_001321734.1,NM_015189.1	deleterious(0.01)		22/22		hmmpanther:PTHR12702:SF3,hmmpanther:PTHR12702,PIRSF_domain:PIRSF025007																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	69	72179355	72179355	T	A	1	0	0	0	0	1	0	0	0	5177	1464	51	4		4	EXOC6B	2	72179355	Missense_Mutation	SNP	T	C3N-01023_TP	17216724	72179355	170014174	23	22017											
ALMS1	0	.	GRCh38	chr2	73600830	73600830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagaaaatgctctttaccGgttatcctgaggacagaaag	15	9	10	7	1	1	3	0	1	1	2	2	5	2	4	2	2	2	2	2	2	6	3	rs61741524		C3N-01023_TP	C3N-01023_NB	G	G																c.11821G>C	p.Gly3941Arg	p.G3941R	ENST00000613296	18/23	226	174	52	186	186	0	strelka-varscan-mutect	ALMS1,missense_variant,p.Gly3941Arg,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Gly3899Arg,ENST00000484298,;ALMS1,upstream_gene_variant,,ENST00000464408,;ALMS1,upstream_gene_variant,,ENST00000490821,;ALMS1,non_coding_transcript_exon_variant,,ENST00000620466,;	C	ENST00000613296	Transcript	missense_variant	11932/12925	11821/12507	3941/4168	G/R	Ggt/Cgt	rs61741524	1		1	ALMS1	HGNC	HGNC:428	protein_coding	YES	CCDS42697.1	ENSP00000482968		A0A087WZY3	UPI00046209B2	NM_015120.4	tolerated(0.17)		18/23		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22										benign							MODERATE	1	SNV	1		1	1										PASS		rs61741524	.												C	3	2	69	73600830	73600830	G	C	1	0	0	0	0	1	0	0	0	635	1116	39	4		4	ALMS1	2	73600830	Missense_Mutation	SNP	G	C3N-01023_TP	1421475	73600830	168592699	24	22018											
LRRTM1	0	.	GRCh38	chr2	80302923	80302923	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggacttccaagagttgagGatccggggctcgatgtaggt	9	9	16	7	2	0	2	0	1	0	1	3	5	2	4	2	5	0	3	2	5	2	3	rs756293616		C3N-01023_TP	C3N-01023_NB	G	G																c.897C>A	p.=	p.I299I	ENST00000295057	2/2	223	165	58	132	132	0	strelka-varscan-mutect	LRRTM1,synonymous_variant,p.=,ENST00000295057,;LRRTM1,synonymous_variant,p.=,ENST00000409148,NM_178839.4;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.2;CTNNA2,intron_variant,,ENST00000629316,NM_001164883.1;CTNNA2,upstream_gene_variant,,ENST00000541047,NM_001282600.1;LRRTM1,downstream_gene_variant,,ENST00000416268,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000415098,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,synonymous_variant,p.=,ENST00000433224,;LRRTM1,synonymous_variant,p.=,ENST00000417012,;	T	ENST00000295057	Transcript	synonymous_variant	1554/2599	897/1569	299/522	I	atC/atA	rs756293616	1		-1	LRRTM1	HGNC	HGNC:19408	protein_coding	YES	CCDS1966.1	ENSP00000295057	Q86UE6		UPI000013E1FE				2/2		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		rs756293616	.												T	2	4	69	80302923	80302923	G	T	1	0	0	0	0	0	0	0	1	8945	1164	41	2		2	LRRTM1	2	80302923	Silent	SNP	G	C3N-01023_TP	6702093	80302923	161890606	25	22019											
CCDC150	0	.	GRCh38	chr2	196656990	196656990	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcgactgaatgcaatacagGaagagcattctaaggacctg	15	8	10	8	1	1	2	0	1	1	1	2	5	1	4	1	2	3	2	1	2	5	3	rs755378315		C3N-01023_TP	C3N-01023_NB	G	G																c.430G>T	p.Glu144Ter	p.E144*	ENST00000389175	4/28	203	158	45	123	123	0	strelka-varscan-mutect	CCDC150,stop_gained,p.Glu144Ter,ENST00000389175,NM_001080539.1;CCDC150,non_coding_transcript_exon_variant,,ENST00000495513,;CCDC150,intron_variant,,ENST00000498512,;CCDC150,non_coding_transcript_exon_variant,,ENST00000471546,;CCDC150,non_coding_transcript_exon_variant,,ENST00000471033,;CCDC150,intron_variant,,ENST00000431807,;	T	ENST00000389175	Transcript	stop_gained	565/3685	430/3306	144/1101	E/*	Gaa/Taa	rs755378315	1		1	CCDC150	HGNC	HGNC:26834	protein_coding	YES	CCDS46478.1	ENSP00000373827	Q8NCX0		UPI0000DD7A7C	NM_001080539.1			4/28		hmmpanther:PTHR35352																	HIGH	1	SNV	5			1										PASS		rs755378315	.												T	4	4	69	196656990	196656990	G	T	1	0	0	0	0	0	1	0	0	2471	1175	41	2		2	CCDC150	2	196656990	Nonsense_Mutation	SNP	G	C3N-01023_TP	116354067	196656990	45536539	26	22020											
TRAK2	0	.	GRCh38	chr2	201380678	201380678	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaatttaaataaacagcAgaatctggtttttgaggacc	14	12	8	7	0	1	3	0	2	1	1	1	4	1	4	2	2	2	2	2	2	6	5	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.2610T>A	p.=	p.S870S	ENST00000332624	16/16	526	481	45	327	327	0	strelka-varscan-mutect	TRAK2,synonymous_variant,p.=,ENST00000332624,NM_015049.2;	T	ENST00000332624	Transcript	synonymous_variant	3039/6510	2610/2745	870/914	S	tcT/tcA		1		-1	TRAK2	HGNC	HGNC:13206	protein_coding	YES	CCDS2347.1	ENSP00000328875	O60296		UPI0000125022	NM_015049.2			16/16		hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF13																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	69	201380678	201380678	A	T	1	0	0	0	0	0	0	0	1	16933	175	7	4		4	TRAK2	2	201380678	Silent	SNP	A	C3N-01023_TP	4723688	201380678	40812851	27	22021											
CUL3	0	.	GRCh38	chr2	224514725	224514725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgaaaaataattaatccCaaattgtagacgttctccac	15	12	4	10	2	2	1	0	0	2	1	5	2	3	1	2	0	0	2	2	0	6	5	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.426G>T	p.Leu142Phe	p.L142F	ENST00000264414	4/16	131	98	33	92	92	0	strelka-varscan-mutect	CUL3,missense_variant,p.Leu142Phe,ENST00000264414,NM_003590.4;CUL3,missense_variant,p.Leu76Phe,ENST00000344951,NM_001257197.1;CUL3,missense_variant,p.Leu118Phe,ENST00000409777,;CUL3,missense_variant,p.Leu118Phe,ENST00000409096,NM_001257198.1;CUL3,missense_variant,p.Leu163Phe,ENST00000436172,;CUL3,non_coding_transcript_exon_variant,,ENST00000541548,;CUL3,3_prime_UTR_variant,,ENST00000432260,;CUL3,upstream_gene_variant,,ENST00000484081,;	A	ENST00000264414	Transcript	missense_variant	765/6741	426/2307	142/768	L/F	ttG/ttT		1		-1	CUL3	HGNC	HGNC:2553	protein_coding	YES	CCDS2462.1	ENSP00000264414	Q13618	A0A024R475	UPI0000001C83	NM_003590.4	deleterious(0)		4/16		hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF85,Pfam_domain:PF00888,Gene3D:1.20.1310.10,Superfamily_domains:SSF74788																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	224514725	224514725	C	A	1	0	0	0	0	1	0	0	0	3866	593	21	2		2	CUL3	2	224514725	Missense_Mutation	SNP	C	C3N-01023_TP	23134047	224514725	17678804	28	22022											
OXTR	0	.	GRCh38	chr3	8753148	8753148	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcgtggaagaggtggccCgtgaacagcatgtagatcca	11	8	14	8	2	0	3	0	1	0	2	2	4	1	4	2	3	2	3	2	3	3	2	rs189691866		C3N-01023_TP	C3N-01023_NB	C	C																c.999G>T	p.=	p.T333T	ENST00000316793	4/4	377	350	27	253	253	0	strelka-varscan-mutect	OXTR,synonymous_variant,p.=,ENST00000316793,NM_000916.3;CAV3,intron_variant,,ENST00000472766,;	A	ENST00000316793	Transcript	synonymous_variant	1624/4364	999/1170	333/389	T	acG/acT	rs189691866,COSM3597831	1		-1	OXTR	HGNC	HGNC:8529	protein_coding	YES	CCDS2570.1	ENSP00000324270	P30559	B2R9L7	UPI000013FEA9	NM_000916.3			4/4		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF19,Superfamily_domains:SSF81321											0,1						LOW	1	SNV	1		0,1	1										PASS		rs189691866	.												A	2	1	69	8753148	8753148	C	A	1	0	0	0	0	0	0	0	1	11411	639	23	1		1	OXTR	3	8753148	Silent	SNP	C	C3N-01023_TP		8753148	189542411	29	22023											
SCN5A	0	.	GRCh38	chr3	38550767	38550767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catctggatcttcagggcgtCcatctccccagactccccca	7	9	7	18	1	4	1	1	0	3	1	7	2	6	2	5	2	0	0	5	2	0	1	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.5605G>T	p.Asp1869Tyr	p.D1869Y	ENST00000413689	28/28	379	331	48	281	281	0	strelka-varscan-mutect	SCN5A,missense_variant,p.Asp1869Tyr,ENST00000413689,NM_001099404.1;SCN5A,missense_variant,p.Asp1869Tyr,ENST00000333535,NM_198056.2;SCN5A,missense_variant,p.Asp1851Tyr,ENST00000425664,NM_001099405.1;SCN5A,missense_variant,p.Asp1868Tyr,ENST00000423572,NM_000335.4;SCN5A,missense_variant,p.Asp1815Tyr,ENST00000451551,NM_001160161.1;SCN5A,missense_variant,p.Asp1851Tyr,ENST00000414099,;SCN5A,missense_variant,p.Asp1836Tyr,ENST00000455624,NM_001160160.1;SCN5A,missense_variant,p.Asp1815Tyr,ENST00000450102,;SCN5A,missense_variant,p.Asp1815Tyr,ENST00000449557,;SCN5A,downstream_gene_variant,,ENST00000464652,;	A	ENST00000413689	Transcript	missense_variant	5799/8504	5605/6051	1869/2016	D/Y	Gac/Tac		1		-1	SCN5A	HGNC	HGNC:10593	protein_coding	YES	CCDS46799.1	ENSP00000410257		H9KVD2	UPI0001572CC8	NM_001099404.1	deleterious(0)		28/28		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF206																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	69	38550767	38550767	C	A	1	0	0	0	0	1	0	0	0	14191	855	30	2		2	SCN5A	3	38550767	Missense_Mutation	SNP	C	C3N-01023_TP	29797619	38550767	159744792	30	22024											
ZNF502	0	.	GRCh38	chr3	44721688	44721688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatcagagaattcacactGgtgagaagccttacatatgc	14	10	8	9	0	3	2	3	1	0	2	3	4	3	2	1	1	3	0	1	1	4	3	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.871G>T	p.Gly291Cys	p.G291C	ENST00000296091	4/4	113	103	10	77	77	0	strelka-varscan-mutect	ZNF502,missense_variant,p.Gly291Cys,ENST00000296091,NM_001134440.1,NM_001282880.1,NM_033210.4;ZNF502,missense_variant,p.Gly291Cys,ENST00000449836,NM_001134441.1,NM_001134442.1;ZNF502,missense_variant,p.Gly291Cys,ENST00000436624,;ZNF502,downstream_gene_variant,,ENST00000411443,;	T	ENST00000296091	Transcript	missense_variant	1127/3270	871/1635	291/544	G/C	Ggt/Tgt		1		1	ZNF502	HGNC	HGNC:23718	protein_coding	YES	CCDS2719.1	ENSP00000296091	Q8TBZ5	A0A024R2Z2	UPI0000072CFB	NM_001134440.1,NM_001282880.1,NM_033210.4	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF133,hmmpanther:PTHR24384,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	44721688	44721688	G	T	1	0	0	0	0	1	0	0	0	18522	1348	47	2		2	ZNF502	3	44721688	Missense_Mutation	SNP	G	C3N-01023_TP	6170921	44721688	153573871	31	22025											
UQCRC1	0	.	GRCh38	chr3	48600497	48600497	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcaccatctagatgagataCcagggcatttctgaggatgt	11	11	10	9	0	3	3	1	2	2	2	3	5	3	4	2	2	1	1	2	2	2	3	rs561584985		C3N-01023_TP	C3N-01023_NB	C	C																c.1198G>T	p.Val400Leu	p.V400L	ENST00000203407	10/13	201	151	50	139	139	0	strelka-varscan-mutect	UQCRC1,missense_variant,p.Val400Leu,ENST00000203407,NM_003365.2;UQCRC1,3_prime_UTR_variant,,ENST00000415995,;UQCRC1,non_coding_transcript_exon_variant,,ENST00000480561,;UQCRC1,non_coding_transcript_exon_variant,,ENST00000471189,;UQCRC1,non_coding_transcript_exon_variant,,ENST00000460105,;UQCRC1,downstream_gene_variant,,ENST00000467690,;UQCRC1,downstream_gene_variant,,ENST00000412343,;UQCRC1,downstream_gene_variant,,ENST00000463708,;UQCRC1,downstream_gene_variant,,ENST00000472438,;	A	ENST00000203407	Transcript	missense_variant	1615/1985	1198/1443	400/480	V/L	Gta/Tta	rs561584985	1		-1	UQCRC1	HGNC	HGNC:12585	protein_coding	YES	CCDS2774.1	ENSP00000203407	P31930		UPI000006DFD4	NM_003365.2	tolerated(1)		10/13		hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF116,Gene3D:3.30.830.10,Superfamily_domains:SSF63411																	MODERATE	1	SNV	1			1										PASS		rs561584985	.												A	3	1	69	48600497	48600497	C	A	1	0	0	0	0	1	0	0	0	17547	507	18	2		2	UQCRC1	3	48600497	Missense_Mutation	SNP	C	C3N-01023_TP	3878809	48600497	149695062	32	22026											
ROBO1	0	.	GRCh38	chr3	78636050	78636050	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccataaacagttgactcaggGagcatcagatttgtttgttt	11	14	9	7	0	2	2	2	1	0	1	2	3	2	3	1	1	2	4	1	1	2	5	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.3096C>G	p.=	p.L1032L	ENST00000464233	23/31	148	113	35	126	126	0	strelka-varscan-mutect	ROBO1,synonymous_variant,p.=,ENST00000436010,;ROBO1,synonymous_variant,p.=,ENST00000618833,;ROBO1,synonymous_variant,p.=,ENST00000618846,;ROBO1,synonymous_variant,p.=,ENST00000464233,NM_002941.3;ROBO1,synonymous_variant,p.=,ENST00000495273,NM_133631.3;ROBO1,intron_variant,,ENST00000467549,NM_001145845.1;ROBO1,upstream_gene_variant,,ENST00000472273,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;	C	ENST00000464233	Transcript	synonymous_variant	3210/6742	3096/4956	1032/1651	L	ctC/ctG		1		-1	ROBO1	HGNC	HGNC:10249	protein_coding	YES	CCDS54611.1	ENSP00000420321	Q9Y6N7		UPI00000713D9	NM_002941.3			23/31		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF107																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	69	78636050	78636050	G	C	1	0	0	0	0	0	0	0	1	13691	1161	41	4		4	ROBO1	3	78636050	Silent	SNP	G	C3N-01023_TP	30035553	78636050	119659509	33	22027											
CDV3	0	.	GRCh38	chr3	133574096	133574098	+	In_Frame_Del	DEL	AAG	AAG	-																															acttctttgccaagagggacAagaagaagaagaaggagcgg																								rs779337478		C3N-01023_TP	C3N-01023_NB	AAG	AAG																c.64_66delAAG	p.Lys22del	p.K22del	ENST00000264993	1/5	82	70	12	80	79	1	sindel-varindel	CDV3,inframe_deletion,p.Lys22del,ENST00000264993,NM_017548.4;CDV3,inframe_deletion,p.Lys22del,ENST00000431519,NM_001134422.1;CDV3,inframe_deletion,p.Arg11del,ENST00000503932,;CDV3,upstream_gene_variant,,ENST00000420115,NM_001134423.2;CDV3,upstream_gene_variant,,ENST00000515421,NM_001282764.1;CDV3,upstream_gene_variant,,ENST00000508481,NM_001282762.1,NM_001282763.1;CDV3,upstream_gene_variant,,ENST00000511392,NM_001282765.1;CDV3,upstream_gene_variant,,ENST00000504867,;CDV3,upstream_gene_variant,,ENST00000507408,;	-	ENST00000264993	Transcript	inframe_deletion	367-369/3307	52-54/777	18/258	K/-	AAG/-	rs779337478	1		1	CDV3	HGNC	HGNC:26928	protein_coding	YES	CCDS3079.1	ENSP00000264993	Q9UKY7		UPI0000072568	NM_017548.4			1/5		hmmpanther:PTHR16284,hmmpanther:PTHR16284:SF13,Low_complexity_(Seg):seg																	MODERATE	1	deletion	1	12		1										PASS		.	.												-	7	5	69	133574096	133574096	AAG	-	1	0	1	0	1	0	0	0	0	2887	131	5	0		0	CDV3	3	133574096	In_Frame_Del	DEL	AAG	C3N-01023_TP	54938046	133574096	64721463	34	22028											
ZIC1	0	.	GRCh38	chr3	147413466	147413466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagacaacccgaccacaaGctccttatcgccctcctcct	10	7	4	20	2	0	1	0	0	0	1	4	2	3	1	6	0	2	1	6	0	3	1	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.1259G>T	p.Ser420Ile	p.S420I	ENST00000282928	3/3	176	126	50	159	159	0	strelka-varscan-mutect	ZIC1,missense_variant,p.Ser420Ile,ENST00000282928,NM_003412.3;ZIC1,missense_variant,p.Ser109Ile,ENST00000488404,;ZIC1,intron_variant,,ENST00000472523,;	T	ENST00000282928	Transcript	missense_variant	1988/5241	1259/1344	420/447	S/I	aGc/aTc		1		1	ZIC1	HGNC	HGNC:12872	protein_coding	YES	CCDS3136.1	ENSP00000282928	Q15915		UPI000013DD09	NM_003412.3	tolerated(0.08)		3/3		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	147413466	147413466	G	T	1	0	0	0	0	1	0	0	0	18257	971	34	2		2	ZIC1	3	147413466	Missense_Mutation	SNP	G	C3N-01023_TP	13839370	147413466	50882093	35	22029											
MME	0	.	GRCh38	chr3	155144418	155144418	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagactttagatgacctcacTtggatggatgccgagacaaa	13	9	10	9	1	1	4	1	1	0	3	1	7	1	6	2	2	1	0	2	2	2	3	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.1377T>A	p.=	p.T459T	ENST00000460393	14/23	373	259	114	267	267	0	strelka-varscan-mutect	MME,synonymous_variant,p.=,ENST00000460393,NM_000902.3;MME,synonymous_variant,p.=,ENST00000615825,NM_007287.2,NM_007289.2;MME,synonymous_variant,p.=,ENST00000462745,NM_007288.2;MME,synonymous_variant,p.=,ENST00000492661,;MME,synonymous_variant,p.=,ENST00000493237,;MME,synonymous_variant,p.=,ENST00000360490,;	A	ENST00000460393	Transcript	synonymous_variant	1497/5622	1377/2253	459/750	T	acT/acA		1		1	MME	HGNC	HGNC:7154	protein_coding	YES	CCDS3172.1	ENSP00000418525	P08473		UPI0000033C41	NM_000902.3			14/23		hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF114,Gene3D:3.40.390.10,Pfam_domain:PF05649,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	69	155144418	155144418	T	A	1	0	0	0	0	0	0	0	1	9608	1596	56	4		4	MME	3	155144418	Silent	SNP	T	C3N-01023_TP	7730952	155144418	43151141	36	22030											
YIPF7	0	.	GRCh38	chr4	44635922	44635922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataacacttccttaacttatCttctagcaaaggaggctctt	12	14	5	10	0	3	0	0	0	3	0	4	1	4	1	1	2	3	2	1	2	5	7			C3N-01023_TP	C3N-01023_NB	C	C																c.352G>C	p.Glu118Gln	p.E118Q	ENST00000332990	3/6	91	82	9	68	68	0	strelka-varscan-mutect	YIPF7,missense_variant,p.Glu94Gln,ENST00000415895,;YIPF7,missense_variant,p.Glu118Gln,ENST00000332990,NM_182592.2;YIPF7,non_coding_transcript_exon_variant,,ENST00000510035,;YIPF7,intron_variant,,ENST00000502794,;	G	ENST00000332990	Transcript	missense_variant,splice_region_variant	369/937	352/843	118/280	E/Q	Gaa/Caa	COSM4741855	1		-1	YIPF7	HGNC	HGNC:26825	protein_coding	YES	CCDS54766.1	ENSP00000332772	Q8N8F6		UPI00015347BF	NM_182592.2	deleterious(0.01)		3/6		hmmpanther:PTHR21236,hmmpanther:PTHR21236:SF5											1						MODERATE	1	SNV	5		1	1										PASS		rs1472993599	.												G	3	3	69	44635922	44635922	C	G	1	0	0	0	0	1	0	0	0	18045	927	32	4		4	YIPF7	4	44635922	Missense_Mutation	SNP	C	C3N-01023_TP		44635922	145578633	37	22031											
KIAA1211	0	.	GRCh38	chr4	56316230	56316230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccatccctcccccaagagCggaagcaagccccttccacc	9	5	7	20	1	0	1	0	0	0	1	4	2	4	2	8	1	3	1	8	1	3	1	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.2728C>T	p.Arg910Trp	p.R910W	ENST00000504228	6/9	231	206	25	137	137	0	strelka-varscan-mutect	KIAA1211,missense_variant,p.Arg910Trp,ENST00000504228,;KIAA1211,missense_variant,p.Arg903Trp,ENST00000541073,;KIAA1211,missense_variant,p.Arg910Trp,ENST00000264229,NM_020722.1;KIAA1211,downstream_gene_variant,,ENST00000636006,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;MRPL22P1,downstream_gene_variant,,ENST00000505398,;	T	ENST00000504228	Transcript	missense_variant	2833/4628	2728/3702	910/1233	R/W	Cgg/Tgg		1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309		deleterious(0)		6/9																			MODERATE	1	SNV	5			1										PASS		rs1003914517	.												T	3	4	69	56316230	56316230	C	T	1	0	0	0	0	1	0	0	0	8107	759	27	1		1	KIAA1211	4	56316230	Missense_Mutation	SNP	C	C3N-01023_TP	11680308	56316230	133898325	38	22032											
ADGRL3	0	.	GRCh38	chr4	62070580	62070580	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagagctttttcccttTgctaaccaacgagcacacag	11	10	8	12	1	0	1	0	1	0	1	1	3	1	1	2	0	5	3	2	0	2	4	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.4082T>G	p.Leu1361Trp	p.L1361W	ENST00000514591	25/25	347	298	49	230	230	0	strelka-varscan-mutect	ADGRL3,missense_variant,p.Leu1361Trp,ENST00000514591,NM_015236.4;ADGRL3,missense_variant,p.Leu1472Trp,ENST00000506720,;ADGRL3,missense_variant,p.Leu1463Trp,ENST00000506746,;ADGRL3,missense_variant,p.Leu1420Trp,ENST00000507625,;ADGRL3,missense_variant,p.Leu1404Trp,ENST00000508946,;ADGRL3,missense_variant,p.Leu1395Trp,ENST00000514996,;ADGRL3,missense_variant,p.Leu810Trp,ENST00000502815,;ADGRL3,3_prime_UTR_variant,,ENST00000512091,NM_001322246.1;ADGRL3,3_prime_UTR_variant,,ENST00000509896,;ADGRL3,3_prime_UTR_variant,,ENST00000511324,;ADGRL3,3_prime_UTR_variant,,ENST00000508693,;ADGRL3,3_prime_UTR_variant,,ENST00000507164,;ADGRL3,3_prime_UTR_variant,,ENST00000506700,;ADGRL3,3_prime_UTR_variant,,ENST00000504896,;ADGRL3,3_prime_UTR_variant,,ENST00000514157,;ADGRL3-AS1,downstream_gene_variant,,ENST00000506704,;ADGRL3-AS1,downstream_gene_variant,,ENST00000504135,;ADGRL3-AS1,downstream_gene_variant,,ENST00000509461,;	G	ENST00000514591	Transcript	missense_variant	4411/6297	4082/4410	1361/1469	L/W	tTg/tGg		1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4	deleterious_low_confidence(0.01)		25/25		Pfam_domain:PF02354																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	69	62070580	62070580	T	G	1	0	0	0	0	1	0	0	0	377	1821	63	5		5	ADGRL3	4	62070580	Missense_Mutation	SNP	T	C3N-01023_TP	5754350	62070580	128143975	39	22033											
ANKRD17	0	.	GRCh38	chr4	73142271	73142271	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgtgggatgggggagttaActgagtgacatctggtggag	9	10	18	4	1	1	2	0	2	1	0	2	5	1	5	0	5	1	1	0	5	1	1			C3N-01023_TP	C3N-01023_NB	A	A																c.2200T>C	p.=	p.L734L	ENST00000358602	13/34	97	82	15	92	92	0	strelka-varscan-mutect	ANKRD17,synonymous_variant,p.=,ENST00000358602,NM_015574.1,NM_032217.3;ANKRD17,synonymous_variant,p.=,ENST00000558247,;ANKRD17,synonymous_variant,p.=,ENST00000509867,NM_001286771.1;ANKRD17,synonymous_variant,p.=,ENST00000330838,NM_198889.1;ANKRD17,intron_variant,,ENST00000561029,;ANKRD17,non_coding_transcript_exon_variant,,ENST00000514252,;	G	ENST00000358602	Transcript	synonymous_variant	2317/10784	2200/7812	734/2603	L	Tta/Cta	COSM1619042	1		-1	ANKRD17	HGNC	HGNC:23575	protein_coding	YES	CCDS34004.1	ENSP00000351416	O75179		UPI00002263B0	NM_015574.1,NM_032217.3			13/34		PROSITE_profiles:PS50297,hmmpanther:PTHR23206,hmmpanther:PTHR23206:SF1											1						LOW	1	SNV	5		1	1										PASS		.	.												G	2	3	69	73142271	73142271	A	G	1	0	0	0	0	0	0	0	1	747	40	2	5		5	ANKRD17	4	73142271	Silent	SNP	A	C3N-01023_TP	11071691	73142271	117072284	40	22034											
ALPK1	0	.	GRCh38	chr4	112431577	112431577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgacacccttctcgcctcAtaataccccaggcattttct	8	13	4	16	1	3	1	1	1	2	0	4	1	3	1	4	1	1	1	4	1	2	6	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.2030A>G	p.His677Arg	p.H677R	ENST00000458497	11/16	312	286	26	266	266	0	strelka-varscan-mutect	ALPK1,missense_variant,p.His677Arg,ENST00000458497,NM_025144.3,NM_001102406.1;ALPK1,missense_variant,p.His599Arg,ENST00000504176,NM_001253884.1;ALPK1,missense_variant,p.His677Arg,ENST00000177648,;ALPK1,downstream_gene_variant,,ENST00000508589,;ALPK1,3_prime_UTR_variant,,ENST00000509722,;ALPK1,non_coding_transcript_exon_variant,,ENST00000504745,;ALPK1,intron_variant,,ENST00000505127,;ALPK1,downstream_gene_variant,,ENST00000512847,;	G	ENST00000458497	Transcript	missense_variant	2309/5410	2030/3735	677/1244	H/R	cAt/cGt		1		1	ALPK1	HGNC	HGNC:20917	protein_coding	YES	CCDS3697.1	ENSP00000398048	Q96QP1		UPI000045725F	NM_025144.3,NM_001102406.1	tolerated(0.5)		11/16		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF30																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	69	112431577	112431577	A	G	1	0	0	0	0	1	0	0	0	644	217	8	5		5	ALPK1	4	112431577	Missense_Mutation	SNP	A	C3N-01023_TP	39289306	112431577	77782978	41	22035											
LARP1B	0	.	GRCh38	chr4	128091052	128091052	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagatgacgtttccagtgTgagaagtgagggtggtaata	12	11	14	4	1	1	4	1	3	0	2	2	5	2	4	1	2	0	2	1	2	4	3	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.410T>C	p.Val137Ala	p.V137A	ENST00000326639	6/20	286	249	37	305	305	0	strelka-varscan-mutect	LARP1B,missense_variant,p.Val137Ala,ENST00000326639,NM_018078.3;LARP1B,missense_variant,p.Val137Ala,ENST00000512292,NM_178043.2;LARP1B,missense_variant,p.Val137Ala,ENST00000432347,NM_032239.3;LARP1B,missense_variant,p.Val137Ala,ENST00000394288,NM_001278604.1;LARP1B,missense_variant,p.Val90Ala,ENST00000508819,;LARP1B,missense_variant,p.Val106Ala,ENST00000507377,;	C	ENST00000326639	Transcript	missense_variant	621/4891	410/2745	137/914	V/A	gTg/gCg		1		1	LARP1B	HGNC	HGNC:24704	protein_coding	YES	CCDS3738.1	ENSP00000321997	Q659C4		UPI0000190831	NM_018078.3	deleterious(0)		6/20		hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF50,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	69	128091052	128091052	T	C	1	0	0	0	0	1	0	0	0	8540	1696	59	5		5	LARP1B	4	128091052	Missense_Mutation	SNP	T	C3N-01023_TP	15659475	128091052	62123503	42	22036											
WWC2	0	.	GRCh38	chr4	183280776	183280776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtatgctttacattcttcagGatgcagtgtcagccttactt	8	16	8	9	0	3	0	2	0	1	0	3	1	3	1	1	1	5	3	1	1	3	7	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.2563G>T	p.Asp855Tyr	p.D855Y	ENST00000403733	17/23	179	154	25	178	177	1	strelka-mutect	WWC2,missense_variant,p.Asp855Tyr,ENST00000403733,NM_024949.5;WWC2,missense_variant,p.Asp855Tyr,ENST00000448232,;WWC2,missense_variant,p.Asp537Tyr,ENST00000504005,;WWC2,missense_variant,p.Asp806Tyr,ENST00000513834,;WWC2,upstream_gene_variant,,ENST00000508747,;WWC2,splice_region_variant,,ENST00000427431,;WWC2,splice_region_variant,,ENST00000438543,;WWC2,splice_region_variant,,ENST00000515284,;	T	ENST00000403733	Transcript	missense_variant,splice_region_variant	2762/8826	2563/3579	855/1192	D/Y	Gat/Tat		1		1	WWC2	HGNC	HGNC:24148	protein_coding	YES	CCDS34109.2	ENSP00000384222	Q6AWC2		UPI000022C4C2	NM_024949.5	deleterious(0)		17/23		hmmpanther:PTHR14791:SF26,hmmpanther:PTHR14791																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	69	183280776	183280776	G	T	1	0	0	0	0	1	0	0	0	17970	1188	41	2		2	WWC2	4	183280776	Missense_Mutation	SNP	G	C3N-01023_TP	55189724	183280776	6933779	43	22037											
MARCH6	0	.	GRCh38	chr5	10386997	10386997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctctttttcggtaggccGcatctacaagtgcttgttta	7	16	9	9	2	2	0	0	0	2	0	3	0	2	0	1	2	3	5	1	2	4	7	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.338G>A	p.Arg113His	p.R113H	ENST00000274140	5/26	233	208	25	143	143	0	strelka-varscan-mutect	MARCH6,missense_variant,p.Arg113His,ENST00000274140,NM_005885.3;MARCH6,missense_variant,p.Arg65His,ENST00000449913,NM_001270660.1;MARCH6,missense_variant,p.Arg8His,ENST00000503788,NM_001270661.1;MARCH6,non_coding_transcript_exon_variant,,ENST00000507863,;MARCH6,non_coding_transcript_exon_variant,,ENST00000510872,;MARCH6,non_coding_transcript_exon_variant,,ENST00000511802,;MARCH6,non_coding_transcript_exon_variant,,ENST00000506131,;MARCH6,intron_variant,,ENST00000502795,;	A	ENST00000274140	Transcript	missense_variant	470/9569	338/2733	113/910	R/H	cGc/cAc		1		1	MARCH6	HGNC	HGNC:30550	protein_coding	YES	CCDS34135.1	ENSP00000274140	O60337		UPI00001B94D6	NM_005885.3	deleterious(0)		5/26		Transmembrane_helices:TMhelix,hmmpanther:PTHR13145																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	10386997	10386997	G	A	1	0	0	0	0	1	0	0	0	9230	1101	38	1		1	MARCH6	5	10386997	Missense_Mutation	SNP	G	C3N-01023_TP		10386997	171151262	44	22038											
DROSHA	0	.	GRCh38	chr5	31422862	31422862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacatgagtaaaaattactCcaattgcttcttcaaactca	16	12	4	9	0	3	1	2	1	1	0	4	2	4	1	1	0	4	2	1	0	7	5	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.3344G>T	p.Gly1115Val	p.G1115V	ENST00000511367	28/35	171	133	38	147	147	0	strelka-varscan-mutect	DROSHA,missense_variant,p.Gly1115Val,ENST00000511367,NM_013235.4;DROSHA,missense_variant,p.Gly1115Val,ENST00000344624,;DROSHA,missense_variant,p.Gly1078Val,ENST00000442743,;DROSHA,missense_variant,p.Gly1078Val,ENST00000513349,NM_001100412.1;DROSHA,non_coding_transcript_exon_variant,,ENST00000510178,;DROSHA,non_coding_transcript_exon_variant,,ENST00000511778,;DROSHA,non_coding_transcript_exon_variant,,ENST00000504133,;	A	ENST00000511367	Transcript	missense_variant	3589/5305	3344/4125	1115/1374	G/V	gGa/gTa		1		-1	DROSHA	HGNC	HGNC:17904	protein_coding	YES	CCDS47195.1	ENSP00000425979	Q9NRR4		UPI0000134351	NM_013235.4	deleterious(0)		28/35		Gene3D:1.10.1520.10,HAMAP:MF_00104,PROSITE_profiles:PS50142,hmmpanther:PTHR11207,Superfamily_domains:SSF69065																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	31422862	31422862	C	A	1	0	0	0	0	1	0	0	0	4584	855	30	2		2	DROSHA	5	31422862	Missense_Mutation	SNP	C	C3N-01023_TP	21035865	31422862	150115397	45	22039											
TTC23L	0	.	GRCh38	chr5	34863034	34863034	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtactacactctgggcgtGgcctggctcctgcagaaccg	6	9	12	14	2	1	1	0	0	1	1	2	1	2	1	3	3	4	3	3	3	3	2	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.516G>T	p.=	p.V172V	ENST00000505624	5/11	190	148	42	149	148	1	strelka-varscan-mutect	TTC23L,synonymous_variant,p.=,ENST00000505624,NM_144725.3;TTC23L,synonymous_variant,p.=,ENST00000610313,;TTC23L,non_coding_transcript_exon_variant,,ENST00000514080,;TTC23L,downstream_gene_variant,,ENST00000506758,;TTC23L,downstream_gene_variant,,ENST00000502782,;TTC23L,synonymous_variant,p.=,ENST00000502674,;TTC23L,3_prime_UTR_variant,,ENST00000508722,;CTD-2517O10.5,upstream_gene_variant,,ENST00000515352,;	T	ENST00000505624	Transcript	synonymous_variant	619/1353	516/1086	172/361	V	gtG/gtT		1		1	TTC23L	HGNC	HGNC:26355	protein_coding	YES	CCDS54840.1	ENSP00000422188	Q6PF05		UPI000013F897	NM_144725.3			5/11		Gene3D:1.25.40.10,hmmpanther:PTHR14485,hmmpanther:PTHR14485:SF4,Superfamily_domains:SSF48452																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	69	34863034	34863034	G	T	1	0	0	0	0	0	0	0	1	17199	1335	47	2		2	TTC23L	5	34863034	Silent	SNP	G	C3N-01023_TP	3440172	34863034	146675225	46	22040											
HCN1	0	.	GRCh38	chr5	45262527	45262527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacaggatggctgatggCtggggggtctgtgtgctggg	4	10	22	5	0	1	2	0	2	1	0	1	3	1	3	0	8	1	3	0	8	0	0	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.2067G>T	p.Gln689His	p.Q689H	ENST00000303230	8/8	234	211	23	172	172	0	strelka-mutect	HCN1,missense_variant,p.Gln689His,ENST00000303230,NM_021072.3;HCN1,non_coding_transcript_exon_variant,,ENST00000637305,;	A	ENST00000303230	Transcript	missense_variant	2308/9885	2067/2673	689/890	Q/H	caG/caT		1		-1	HCN1	HGNC	HGNC:4845	protein_coding	YES	CCDS3952.1	ENSP00000307342	O60741		UPI00001AED69	NM_021072.3	tolerated_low_confidence(0.08)		8/8		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	45262527	45262527	C	A	1	0	0	0	0	1	0	0	0	6883	796	28	2		2	HCN1	5	45262527	Missense_Mutation	SNP	C	C3N-01023_TP	10399493	45262527	136275732	47	22041											
CEP120	0	.	GRCh38	chr5	123377461	123377461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaatacagtcctctttggcCctacggatagagtcctgcag	9	11	10	11	1	1	2	0	1	1	1	3	3	3	3	3	2	3	1	3	2	4	4	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.2271G>T	p.Arg757Ser	p.R757S	ENST00000306467	16/20	252	191	61	186	186	0	strelka-varscan-mutect	CEP120,missense_variant,p.Arg757Ser,ENST00000306467,;CEP120,missense_variant,p.Arg757Ser,ENST00000328236,NM_153223.3;CEP120,missense_variant,p.Arg731Ser,ENST00000306481,NM_001166226.1;CEP120,missense_variant,p.Arg731Ser,ENST00000508442,;CEP120,3_prime_UTR_variant,,ENST00000508138,;CEP120,3_prime_UTR_variant,,ENST00000513565,;	A	ENST00000306467	Transcript	missense_variant	2576/4900	2271/2961	757/986	R/S	agG/agT		1		-1	CEP120	HGNC	HGNC:26690	protein_coding	YES	CCDS4134.2	ENSP00000303058	Q8N960		UPI0000D79C73		deleterious(0.03)		16/20		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21574																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	69	123377461	123377461	C	A	1	0	0	0	0	1	0	0	0	2956	622	22	2		2	CEP120	5	123377461	Missense_Mutation	SNP	C	C3N-01023_TP	78114934	123377461	58160798	48	22042											
PPARGC1B	0	.	GRCh38	chr5	149820444	149820444	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcagggtggagggtcCggggaggagcaactctatgc	7	8	16	10	1	3	0	1	0	2	0	5	3	4	3	2	6	3	1	2	6	2	1	rs368304290		C3N-01023_TP	C3N-01023_NB	C	C																c.90C>A	p.=	p.S30S	ENST00000309241	2/12	121	95	26	59	59	0	strelka-varscan-mutect	PPARGC1B,synonymous_variant,p.=,ENST00000309241,NM_133263.3;PPARGC1B,synonymous_variant,p.=,ENST00000394320,;PPARGC1B,synonymous_variant,p.=,ENST00000403750,NM_001172699.1;PPARGC1B,synonymous_variant,p.=,ENST00000360453,NM_001172698.1;PPARGC1B,downstream_gene_variant,,ENST00000461780,;	A	ENST00000309241	Transcript	synonymous_variant	122/10568	90/3072	30/1023	S	tcC/tcA	rs368304290	1		1	PPARGC1B	HGNC	HGNC:30022	protein_coding	YES	CCDS4298.1	ENSP00000312649	Q86YN6		UPI000006F49D	NM_133263.3			2/12		hmmpanther:PTHR15528:SF12,hmmpanther:PTHR15528																	LOW	1	SNV	1			1										PASS		rs368304290	.												A	2	1	69	149820444	149820444	C	A	1	0	0	0	0	0	0	0	1	12410	639	23	1		1	PPARGC1B	5	149820444	Silent	SNP	C	C3N-01023_TP	26442983	149820444	31717815	49	22043											
GPX5	0	.	GRCh38	chr6	28529568	28529568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacatcctcttcgtcaacGtggccacctactgtggtctg	7	11	9	14	2	3	0	1	0	2	0	5	0	4	0	3	2	3	1	3	2	2	2	rs376708612		C3N-01023_TP	C3N-01023_NB	G	G																c.205G>T	p.Val69Leu	p.V69L	ENST00000412168	2/5	129	109	20	100	100	0	strelka-varscan-mutect	GPX5,missense_variant,p.Val69Leu,ENST00000412168,NM_001509.2;GPX5,missense_variant,p.Val69Leu,ENST00000469384,NM_003996.3;GPX5,non_coding_transcript_exon_variant,,ENST00000442674,;GPX5,non_coding_transcript_exon_variant,,ENST00000483784,;GPX6,upstream_gene_variant,,ENST00000483058,;	T	ENST00000412168	Transcript	missense_variant	294/1540	205/666	69/221	V/L	Gtg/Ttg	rs376708612	1		1	GPX5	HGNC	HGNC:4557	protein_coding	YES	CCDS4652.1	ENSP00000392398	O75715	V9HWN8	UPI0000031FD7	NM_001509.2	deleterious(0.01)		2/5		Gene3D:3.40.30.10,Pfam_domain:PF00255,PIRSF_domain:PIRSF000303,Prints_domain:PR01011,PROSITE_patterns:PS00460,PROSITE_profiles:PS51355,hmmpanther:PTHR11592,hmmpanther:PTHR11592:SF29,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		rs376708612	.												T	3	4	69	28529568	28529568	G	T	1	0	0	0	0	1	0	0	0	6622	1145	40	1		1	GPX5	6	28529568	Missense_Mutation	SNP	G	C3N-01023_TP		28529568	142276411	50	22044											
MDC1	0	.	GRCh38	chr6	30712261	30712261	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagagataccacaagcagctTtgctggtcccccaactgctt	10	10	8	13	0	0	1	0	0	0	1	1	2	1	1	3	1	6	4	3	1	4	4	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.1681A>T	p.Lys561Ter	p.K561*	ENST00000376406	5/15	148	122	26	81	81	0	strelka-varscan-mutect	MDC1,stop_gained,p.Lys561Ter,ENST00000376406,NM_014641.2;MDC1,upstream_gene_variant,,ENST00000417033,;MDC1,downstream_gene_variant,,ENST00000613547,;MDC1,downstream_gene_variant,,ENST00000422266,;MDC1,downstream_gene_variant,,ENST00000416571,;MDC1,downstream_gene_variant,,ENST00000425072,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000494654,;MDC1,upstream_gene_variant,,ENST00000492462,;	A	ENST00000376406	Transcript	stop_gained	2329/7576	1681/6270	561/2089	K/*	Aag/Tag		1		-1	MDC1	HGNC	HGNC:21163	protein_coding	YES	CCDS34384.1	ENSP00000365588	Q14676		UPI00001AF453	NM_014641.2			5/15		hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF1																	HIGH		SNV	5			1										PASS		.	.												A	4	1	69	30712261	30712261	T	A	1	0	0	0	0	0	1	0	0	9341	1850	64	4		4	MDC1	6	30712261	Nonsense_Mutation	SNP	T	C3N-01023_TP	2182693	30712261	140093718	51	22045											
KIFC1	0	.	GRCh38	chr6	33403485	33403485	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcacctcctcaattctgtagGgttgaagaaccagaagccag	12	9	9	11	0	3	3	2	1	1	2	4	3	4	3	4	1	2	2	4	1	5	3	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.305G>C	p.Gly102Ala	p.G102A	ENST00000428849	5/11	297	279	18	225	225	0	strelka-varscan-mutect	KIFC1,missense_variant,p.Gly102Ala,ENST00000428849,NM_002263.3;KIFC1,missense_variant,p.Gly143Ala,ENST00000450504,;KIFC1,upstream_gene_variant,,ENST00000494554,;KIFC1,splice_region_variant,,ENST00000486695,;RPL12P1,upstream_gene_variant,,ENST00000374520,;	C	ENST00000428849	Transcript	missense_variant,splice_region_variant	755/2706	305/2022	102/673	G/A	gGg/gCg		1		1	KIFC1	HGNC	HGNC:6389	protein_coding	YES	CCDS34430.1	ENSP00000393963	Q9BW19	A0A024RCS7	UPI000012DDB8	NM_002263.3	tolerated(1)		5/11		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF443																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	69	33403485	33403485	G	C	1	0	0	0	0	1	0	0	0	8177	1246	43	4		4	KIFC1	6	33403485	Missense_Mutation	SNP	G	C3N-01023_TP	2691224	33403485	137402494	52	22046											
ZNF318	0	.	GRCh38	chr6	43355494	43355494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagtcgttcctgggtgcGtgcagccaattgactaatct	9	12	11	9	2	1	2	0	2	1	0	3	2	2	2	2	1	3	2	2	1	3	3	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.1840C>G	p.Arg614Gly	p.R614G	ENST00000361428	4/10	296	253	43	224	224	0	strelka-varscan-mutect	ZNF318,missense_variant,p.Arg614Gly,ENST00000361428,NM_014345.2;ZNF318,missense_variant,p.Arg614Gly,ENST00000605935,;	C	ENST00000361428	Transcript	missense_variant	1918/8006	1840/6840	614/2279	R/G	Cgc/Ggc		1		-1	ZNF318	HGNC	HGNC:13578	protein_coding	YES	CCDS4895.2	ENSP00000354964	Q5VUA4		UPI000049E044	NM_014345.2	deleterious(0)		4/10		hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	69	43355494	43355494	G	C	1	0	0	0	0	1	0	0	0	18411	1145	40	4		4	ZNF318	6	43355494	Missense_Mutation	SNP	G	C3N-01023_TP	9952009	43355494	127450485	53	22047											
PKHD1	0	.	GRCh38	chr6	51791261	51791261	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctccccgcctgcaatGaccatgcatgccacactcag	9	8	7	17	1	2	1	2	1	0	0	3	1	3	1	5	0	4	3	5	0	1	1	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.8415C>A	p.=	p.V2805V	ENST00000371117	53/67	574	484	90	386	386	0	strelka-varscan-mutect	PKHD1,synonymous_variant,p.=,ENST00000371117,NM_138694.3;PKHD1,synonymous_variant,p.=,ENST00000340994,NM_170724.2;	T	ENST00000371117	Transcript	synonymous_variant	8691/16282	8415/12225	2805/4074	V	gtC/gtA		1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3			53/67		PROSITE_profiles:PS51484,Pfam_domain:PF10162,SMART_domains:SM01225																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	69	51791261	51791261	G	T	1	0	0	0	0	0	0	0	1	12067	1277	45	2		2	PKHD1	6	51791261	Silent	SNP	G	C3N-01023_TP	8435767	51791261	119014718	54	22048											
RFX6	0	.	GRCh38	chr6	116927402	116927402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatataactcccggccacCgtctagctatggcccatccc	8	9	6	18	2	1	0	0	0	1	0	4	0	4	0	6	2	2	1	6	2	4	4	rs563217936		C3N-01023_TP	C3N-01023_NB	C	C																c.2261C>A	p.Pro754Gln	p.P754Q	ENST00000332958	17/19	89	78	11	66	66	0	strelka-varscan-mutect	RFX6,missense_variant,p.Pro754Gln,ENST00000332958,NM_173560.3;RFX6,downstream_gene_variant,,ENST00000487683,;	A	ENST00000332958	Transcript	missense_variant	2277/3460	2261/2787	754/928	P/Q	cCg/cAg	rs563217936,COSM3928052	1		1	RFX6	HGNC	HGNC:21478	protein_coding	YES	CCDS5113.1	ENSP00000332208	Q8HWS3		UPI00001609BE	NM_173560.3	tolerated_low_confidence(0.11)		17/19		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF28											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs563217936	.												A	3	1	69	116927402	116927402	C	A	1	0	0	0	0	1	0	0	0	13441	652	23	1		1	RFX6	6	116927402	Missense_Mutation	SNP	C	C3N-01023_TP	65136141	116927402	53878577	55	22049											
PNLDC1	0	.	GRCh38	chr6	159801125	159801125	+	Missense_Mutation	SNP	G	G	C																															gttcacagtctttttgatttGccatcggagtggtatctaaa																										C3N-01023_TP	C3N-01023_NB	G	G																c.147G>C	p.Leu49Phe	p.L49F	ENST00000392167	3/19	167	153	14	159	159	0	strelka-varscan-mutect	PNLDC1,missense_variant,p.Leu38Phe,ENST00000610273,NM_173516.2;PNLDC1,missense_variant,p.Leu49Phe,ENST00000392167,NM_001271862.1;MRPL18,downstream_gene_variant,,ENST00000367034,NM_014161.3;PNLDC1,non_coding_transcript_exon_variant,,ENST00000609334,;MRPL18,downstream_gene_variant,,ENST00000480842,;MRPL18,downstream_gene_variant,,ENST00000476826,;MRPL18,downstream_gene_variant,,ENST00000479638,;PNLDC1,3_prime_UTR_variant,,ENST00000275275,;PNLDC1,3_prime_UTR_variant,,ENST00000610041,;PNLDC1,intron_variant,,ENST00000610048,;	C	ENST00000392167	Transcript	missense_variant	181/1816	147/1596	49/531	L/F	ttG/ttC	COSM3745037	1		1	PNLDC1	HGNC	HGNC:21185	protein_coding	YES	CCDS5271.2	ENSP00000376007	Q8NA58		UPI000006E4CF	NM_001271862.1	deleterious(0.03)		3/19		Gene3D:3.30.420.10,Pfam_domain:PF04857,hmmpanther:PTHR15092,hmmpanther:PTHR15092:SF29,Superfamily_domains:SSF53098											1						MODERATE		SNV	2		1	1										PASS		.	.												C	3	2	69	159801125	159801125	G	C	1	0	0	0	0	1	0	0	0	12256	1310	46	4		4	PNLDC1	6	159801125	Missense_Mutation	SNP	G	C3N-01023_TP	42873723	159801125	11004854	56	22050	467	2									
PNLDC1	0	.	GRCh38	chr6	159801128	159801128	+	Silent	SNP	A	A	T																															cacagtctttttgatttgccAtcggagtggtatctaaagac																								rs765610792		C3N-01023_TP	C3N-01023_NB	A	A																c.150A>T	p.=	p.P50P	ENST00000392167	3/19	168	154	14	171	171	0	strelka-varscan-mutect	PNLDC1,synonymous_variant,p.=,ENST00000610273,NM_173516.2;PNLDC1,synonymous_variant,p.=,ENST00000392167,NM_001271862.1;MRPL18,downstream_gene_variant,,ENST00000367034,NM_014161.3;PNLDC1,non_coding_transcript_exon_variant,,ENST00000609334,;MRPL18,downstream_gene_variant,,ENST00000480842,;MRPL18,downstream_gene_variant,,ENST00000476826,;MRPL18,downstream_gene_variant,,ENST00000479638,;PNLDC1,3_prime_UTR_variant,,ENST00000275275,;PNLDC1,3_prime_UTR_variant,,ENST00000610041,;PNLDC1,intron_variant,,ENST00000610048,;	T	ENST00000392167	Transcript	synonymous_variant	184/1816	150/1596	50/531	P	ccA/ccT	rs765610792	1		1	PNLDC1	HGNC	HGNC:21185	protein_coding	YES	CCDS5271.2	ENSP00000376007	Q8NA58		UPI000006E4CF	NM_001271862.1			3/19		Gene3D:3.30.420.10,Pfam_domain:PF04857,hmmpanther:PTHR15092,hmmpanther:PTHR15092:SF29,Superfamily_domains:SSF53098																	LOW		SNV	2			1										PASS		rs765610792	.												T	2	4	69	159801128	159801128	A	T	1	0	0	0	0	0	0	0	1	12256	204	8	4		4	PNLDC1	6	159801128	Silent	SNP	A	C3N-01023_TP	3	159801128	11004851	57	22051	467	2									
HDAC9	0	.	GRCh38	chr7	18727619	18727619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacacgtgcgctctctgtgCgccaagctccgctggctgcg	5	8	12	16	5	1	0	0	0	1	0	3	0	2	0	2	1	4	4	2	1	1	0			C3N-01023_TP	C3N-01023_NB	C	C																c.1771C>A	p.Arg591Ser	p.R591S	ENST00000441542	12/25	150	105	45	133	132	1	strelka-varscan-mutect	HDAC9,missense_variant,p.Arg588Ser,ENST00000406451,NM_001321897.1,NM_178423.1;HDAC9,missense_variant,p.Arg547Ser,ENST00000401921,;HDAC9,missense_variant,p.Arg591Ser,ENST00000441542,NM_178425.2;HDAC9,missense_variant,p.Arg588Ser,ENST00000432645,NM_058176.2;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;	A	ENST00000441542	Transcript	missense_variant	1771/3210	1771/3210	591/1069	R/S	Cgc/Agc	COSM4640787,COSM4640788	1		1	HDAC9	HGNC	HGNC:14065	protein_coding	YES	CCDS47553.1	ENSP00000408617	Q9UKV0		UPI000019AB75	NM_178425.2	tolerated(0.17)		12/25		hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF136,PIRSF_domain:PIRSF037911											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	69	18727619	18727619	C	A	1	0	0	0	0	1	0	0	0	6901	768	27	1		1	HDAC9	7	18727619	Missense_Mutation	SNP	C	C3N-01023_TP		18727619	140618354	58	22052											
POM121L12	0	.	GRCh38	chr7	53036150	53036150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctggacagagagcccgccCcgcaggccgccccgccgccc	5	1	12	23	5	0	1	0	0	0	1	0	3	0	2	9	2	1	1	9	2	0	0	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.479C>A	p.Pro160His	p.P160H	ENST00000408890	1/1	198	148	50	99	99	0	strelka-varscan-mutect	POM121L12,missense_variant,p.Pro160His,ENST00000408890,NM_182595.3;	A	ENST00000408890	Transcript	missense_variant	509/1283	479/891	160/296	P/H	cCc/cAc		1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3	tolerated(0.54)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	69	53036150	53036150	C	A	1	0	0	0	0	1	0	0	0	12352	623	22	2		2	POM121L12	7	53036150	Missense_Mutation	SNP	C	C3N-01023_TP	34308531	53036150	106309823	59	22053											
CHCHD2	0	.	GRCh38	chr7	56104442	56104442	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgagcgactggtgcTggcctgggtgcagctctcat	4	10	17	10	1	1	1	1	1	1	0	2	2	1	1	1	5	4	4	1	5	0	0	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.84A>T	p.=	p.P28P	ENST00000395422	2/4	136	92	44	94	94	0	strelka-mutect	CHCHD2,synonymous_variant,p.=,ENST00000395422,NM_001320327.1,NM_016139.2;CHCHD2,non_coding_transcript_exon_variant,,ENST00000473095,;	A	ENST00000395422	Transcript	synonymous_variant	247/901	84/456	28/151	P	ccA/ccT		1		-1	CHCHD2	HGNC	HGNC:21645	protein_coding	YES	CCDS5526.1	ENSP00000378812	Q9Y6H1		UPI0000073DC7	NM_001320327.1,NM_016139.2			2/4		Low_complexity_(Seg):seg,hmmpanther:PTHR13523:SF3,hmmpanther:PTHR13523																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	69	56104442	56104442	T	A	1	0	0	0	0	0	0	0	1	3076	1567	55	4		4	CHCHD2	7	56104442	Silent	SNP	T	C3N-01023_TP	3068292	56104442	103241531	60	22054											
ZP3	0	.	GRCh38	chr7	76440564	76440564	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattccaggaggcagcctcAtgtcatgagccagtggtcca	9	8	11	13	0	2	1	2	1	0	0	4	2	4	2	5	3	2	1	5	3	0	1	rs2906998		C3N-01023_TP	C3N-01023_NB	A	A																c.1013A>G	p.His338Arg	p.H338R	ENST00000394857	7/8	140	128	12	82	82	0	varscan-mutect	ZP3,missense_variant,p.His162Arg,ENST00000416245,;ZP3,missense_variant,p.His287Arg,ENST00000336517,NM_007155.5;ZP3,missense_variant,p.His338Arg,ENST00000394857,NM_001110354.1;ZP3,missense_variant,p.His172Arg,ENST00000394860,;ZP3,non_coding_transcript_exon_variant,,ENST00000467555,;ZP3,intron_variant,,ENST00000479793,;ZP3,non_coding_transcript_exon_variant,,ENST00000466960,;	G	ENST00000394857	Transcript	missense_variant	1071/1348	1013/1275	338/424	H/R	cAt/cGt	rs2906998	1		1	ZP3	HGNC	HGNC:13189	protein_coding	YES	CCDS47618.1	ENSP00000378326	P21754		UPI000013CF77	NM_001110354.1	tolerated(0.4)		7/8		hmmpanther:PTHR11576,hmmpanther:PTHR11576:SF2																	MODERATE	1	SNV	1			1										PASS		rs2906998	.												G	3	3	69	76440564	76440564	A	G	1	0	0	0	0	1	0	0	0	18809	217	8	5		5	ZP3	7	76440564	Missense_Mutation	SNP	A	C3N-01023_TP	20336122	76440564	82905409	61	22055											
DMTF1	0	.	GRCh38	chr7	87195122	87195122	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattcaaaggatgtcgaagaTttggtaaactgtcattagaa	15	12	10	4	1	2	2	2	0	0	2	3	5	2	3	0	2	1	1	0	2	6	4	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.2265T>C	p.=	p.D755D	ENST00000394703	20/20	117	92	25	86	86	0	strelka-varscan-mutect	DMTF1,missense_variant,p.Ile175Thr,ENST00000454008,;DMTF1,synonymous_variant,p.=,ENST00000394703,NM_021145.3;DMTF1,synonymous_variant,p.=,ENST00000331242,NM_001142327.1;DMTF1,synonymous_variant,p.=,ENST00000413276,;DMTF1,synonymous_variant,p.=,ENST00000432937,NM_001142326.1;TMEM243,downstream_gene_variant,,ENST00000433078,;TMEM243,downstream_gene_variant,,ENST00000257637,NM_024315.2;TMEM243,downstream_gene_variant,,ENST00000423734,;DMTF1,downstream_gene_variant,,ENST00000582204,;TMEM243,downstream_gene_variant,,ENST00000481425,;TMEM243,downstream_gene_variant,,ENST00000465976,;DMTF1,3_prime_UTR_variant,,ENST00000412139,;DMTF1,3_prime_UTR_variant,,ENST00000447863,;DMTF1,3_prime_UTR_variant,,ENST00000579677,;DMTF1,3_prime_UTR_variant,,ENST00000425406,;DMTF1,3_prime_UTR_variant,,ENST00000547146,;DMTF1,3_prime_UTR_variant,,ENST00000579850,;DMTF1,non_coding_transcript_exon_variant,,ENST00000488352,;DMTF1,non_coding_transcript_exon_variant,,ENST00000580010,;DMTF1,downstream_gene_variant,,ENST00000480982,;DMTF1,downstream_gene_variant,,ENST00000584619,;TMEM243,downstream_gene_variant,,ENST00000474074,;TMEM243,downstream_gene_variant,,ENST00000492231,;DMTF1,downstream_gene_variant,,ENST00000580803,;	C	ENST00000394703	Transcript	synonymous_variant	2828/4038	2265/2283	755/760	D	gaT/gaC		1		1	DMTF1	HGNC	HGNC:14603	protein_coding	YES	CCDS5601.1	ENSP00000378193	Q9Y222		UPI000006FB78	NM_021145.3			20/20		hmmpanther:PTHR10641,hmmpanther:PTHR10641:SF672																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	69	87195122	87195122	T	C	1	0	0	0	0	0	0	0	1	4400	1490	52	5		5	DMTF1	7	87195122	Silent	SNP	T	C3N-01023_TP	10754558	87195122	72150851	62	22056											
C7orf62	0	.	GRCh38	chr7	88794463	88794463	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggactgtgactgtgtcacAtcgtcgagatacataactgg	11	10	12	8	2	1	2	1	1	0	1	3	4	1	3	0	2	2	0	0	2	2	2	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.480T>C	p.=	p.D160D	ENST00000297203	2/2	205	180	25	184	184	0	strelka-varscan-mutect	C7orf62,synonymous_variant,p.=,ENST00000297203,NM_152706.3;ZNF804B,intron_variant,,ENST00000333190,NM_181646.3;	G	ENST00000297203	Transcript	synonymous_variant	666/1023	480/762	160/253	D	gaT/gaC		1		-1	C7orf62	HGNC	HGNC:22402	protein_coding	YES	CCDS34678.1	ENSP00000297203	Q8TBZ9		UPI000005034C	NM_152706.3			2/2		hmmpanther:PTHR34035,hmmpanther:PTHR34035:SF1																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	69	88794463	88794463	A	G	1	0	0	0	0	0	0	0	1	2146	214	8	5		5	C7orf62	7	88794463	Silent	SNP	A	C3N-01023_TP	1599341	88794463	70551510	63	22057											
PTPRZ1	0	.	GRCh38	chr7	122012713	122012713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattagttctacaatgttgCatctcattgtatcaaattct	13	17	4	7	0	4	0	2	0	3	0	5	0	4	0	0	0	2	4	0	0	6	7	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.3667C>A	p.His1223Asn	p.H1223N	ENST00000393386	12/30	227	194	33	155	153	2	strelka-varscan-mutect	PTPRZ1,missense_variant,p.His1223Asn,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,intron_variant,,ENST00000449182,NM_001206839.1;PTPRZ1,intron_variant,,ENST00000483028,;	A	ENST00000393386	Transcript	missense_variant	4078/8175	3667/6948	1223/2315	H/N	Cat/Aat		1		1	PTPRZ1	HGNC	HGNC:9685	protein_coding	YES	CCDS34740.1	ENSP00000377047	P23471		UPI000020F9BB	NM_001206838.1,NM_002851.2	deleterious_low_confidence(0.05)		12/30																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	122012713	122012713	C	A	1	0	0	0	0	1	0	0	0	12969	710	25	2		2	PTPRZ1	7	122012713	Missense_Mutation	SNP	C	C3N-01023_TP	33218250	122012713	37333260	64	22058											
CCDC136	0	.	GRCh38	chr7	128794394	128794394	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggaggaagaggaagaggaAgaggaggaagaagaggtgga	18	1	22	0	0	0	5	0	0	0	5	0	13	0	12	0	8	0	0	0	8	5	0	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.63A>G	p.=	p.E21E	ENST00000297788	2/18	217	205	12	129	128	1	varscan-mutect	CCDC136,synonymous_variant,p.=,ENST00000297788,NM_022742.4;CCDC136,synonymous_variant,p.=,ENST00000487361,;CCDC136,synonymous_variant,p.=,ENST00000464832,;CCDC136,synonymous_variant,p.=,ENST00000378685,NM_001201372.1;CCDC136,synonymous_variant,p.=,ENST00000485998,;CCDC136,synonymous_variant,p.=,ENST00000459946,;CCDC136,synonymous_variant,p.=,ENST00000488925,;CCDC136,downstream_gene_variant,,ENST00000472049,;	G	ENST00000297788	Transcript	synonymous_variant	430/4169	63/3465	21/1154	E	gaA/gaG		1		1	CCDC136	HGNC	HGNC:22225	protein_coding	YES	CCDS47704.1	ENSP00000297788	Q96JN2		UPI0000E445DE	NM_022742.4			2/18		Low_complexity_(Seg):seg,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF26,Coiled-coils_(Ncoils):Coil																	LOW	1	SNV	1			1										PASS		rs768765556	.												G	2	3	69	128794394	128794394	A	G	1	0	0	0	0	0	0	0	1	2459	69	3	5		5	CCDC136	7	128794394	Silent	SNP	A	C3N-01023_TP	6781681	128794394	30551579	65	22059											
FLNC	0	.	GRCh38	chr7	128835552	128835552	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacggcaaagctctgggcgcCctggtggacaactgcgcccc	7	5	14	15	3	1	0	0	0	1	0	1	2	1	1	3	4	3	2	3	4	2	0	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.579C>A	p.=	p.A193A	ENST00000325888	2/48	220	169	51	126	126	0	strelka-varscan-mutect	FLNC,synonymous_variant,p.=,ENST00000325888,NM_001458.4;FLNC,synonymous_variant,p.=,ENST00000346177,NM_001127487.1;	A	ENST00000325888	Transcript	synonymous_variant	840/9188	579/8178	193/2725	A	gcC/gcA		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4			2/48		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00033,Superfamily_domains:SSF47576																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	69	128835552	128835552	C	A	1	0	0	0	0	0	0	0	1	5791	610	22	2		2	FLNC	7	128835552	Silent	SNP	C	C3N-01023_TP	41158	128835552	30510421	66	22060											
AKR1D1	0	.	GRCh38	chr7	138107561	138107561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaagctttaatcttgaaaGgatcaaagaaaattttcagg	18	12	7	4	0	3	2	2	1	1	1	3	3	3	3	0	2	1	1	0	2	7	6	rs765314823		C3N-01023_TP	C3N-01023_NB	G	G																c.836G>T	p.Arg279Met	p.R279M	ENST00000242375	7/9	395	354	41	260	260	0	strelka-varscan-mutect	AKR1D1,missense_variant,p.Arg279Met,ENST00000242375,NM_005989.3;AKR1D1,missense_variant,p.Arg238Met,ENST00000411726,NM_001190906.1;AKR1D1,missense_variant,p.Arg279Met,ENST00000432161,NM_001190907.1;AKR1D1,non_coding_transcript_exon_variant,,ENST00000468877,;	T	ENST00000242375	Transcript	missense_variant	878/2347	836/981	279/326	R/M	aGg/aTg	rs765314823,COSM3633839	1		1	AKR1D1	HGNC	HGNC:388	protein_coding	YES	CCDS5846.1	ENSP00000242375	P51857		UPI0000125764	NM_005989.3	deleterious(0.01)		7/9		Gene3D:3.20.20.100,Pfam_domain:PF00248,PIRSF_domain:PIRSF000097,PROSITE_patterns:PS00063,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF211,Superfamily_domains:SSF51430											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs765314823	.												T	3	4	69	138107561	138107561	G	T	1	0	0	0	0	1	0	0	0	557	1000	35	2		2	AKR1D1	7	138107561	Missense_Mutation	SNP	G	C3N-01023_TP	9272009	138107561	21238412	67	22061											
BRAF	0	.	GRCh38	chr7	140808042	140808042	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaaatatcagtgtccCaaccaattggtttcttctct	10	13	7	11	0	3	0	1	0	2	0	5	1	4	1	3	2	1	1	3	2	4	4	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.629G>T	p.Trp210Leu	p.W210L	ENST00000288602	5/18	278	194	84	238	237	1	strelka-varscan-mutect	BRAF,missense_variant,p.Trp210Leu,ENST00000288602,NM_004333.4;BRAF,3_prime_UTR_variant,,ENST00000497784,;	A	ENST00000288602	Transcript	missense_variant	690/2480	629/2301	210/766	W/L	tGg/tTg		1		-1	BRAF	HGNC	HGNC:1097	protein_coding	YES	CCDS5863.1	ENSP00000288602	P15056		UPI000013DF26	NM_004333.4	deleterious(0)		5/18		Gene3D:3.10.20.90,Pfam_domain:PF02196,PROSITE_profiles:PS50898,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF43,SMART_domains:SM00455,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	140808042	140808042	C	A	1	0	0	0	0	1	0	0	0	1665	595	21	2		2	BRAF	7	140808042	Missense_Mutation	SNP	C	C3N-01023_TP	2700481	140808042	18537931	68	22062											
TRPV6	0	.	GRCh38	chr7	142873540	142873540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagcatgagcagtgtggCgatgatggcaaaggcagcat	11	8	16	6	1	0	3	0	3	0	0	0	4	0	3	0	3	3	6	0	3	1	1	rs771971978		C3N-01023_TP	C3N-01023_NB	C	C																c.1816G>T	p.Ala606Ser	p.A606S	ENST00000359396	13/15	532	484	48	376	375	1	strelka-varscan-mutect	TRPV6,missense_variant,p.Ala606Ser,ENST00000359396,NM_018646.5;EPHB6,downstream_gene_variant,,ENST00000619012,;EPHB6,downstream_gene_variant,,ENST00000422643,NM_004445.5;EPHB6,downstream_gene_variant,,ENST00000411471,NM_001280794.2,NM_001280795.2;TRPV6,downstream_gene_variant,,ENST00000436401,;EPHB6,downstream_gene_variant,,ENST00000476059,;TRPV6,downstream_gene_variant,,ENST00000431833,;RP11-114L10.2,upstream_gene_variant,,ENST00000438839,;EPHB6,downstream_gene_variant,,ENST00000617632,;TRPV6,non_coding_transcript_exon_variant,,ENST00000615386,;TRPV6,non_coding_transcript_exon_variant,,ENST00000485138,;EPHB6,downstream_gene_variant,,ENST00000616380,;EPHB6,downstream_gene_variant,,ENST00000614832,;EPHB6,downstream_gene_variant,,ENST00000611578,;EPHB6,downstream_gene_variant,,ENST00000486511,;TRPV6,downstream_gene_variant,,ENST00000619250,;TRPV6,downstream_gene_variant,,ENST00000489123,;TRPV6,downstream_gene_variant,,ENST00000474388,;EPHB6,downstream_gene_variant,,ENST00000471581,;	A	ENST00000359396	Transcript	missense_variant	1942/2928	1816/2298	606/765	A/S	Gcc/Tcc	rs771971978	1		-1	TRPV6	HGNC	HGNC:14006	protein_coding	YES		ENSP00000352358	Q9H1D0		UPI00064546CC	NM_018646.5	tolerated(0.18)		13/15		hmmpanther:PTHR10582:SF25,hmmpanther:PTHR10582,Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520																	MODERATE	1	SNV	1			1										PASS		rs771971978	.												A	3	1	69	142873540	142873540	C	A	1	0	0	0	0	1	0	0	0	17106	768	27	1		1	TRPV6	7	142873540	Missense_Mutation	SNP	C	C3N-01023_TP	2065498	142873540	16472433	69	22063											
TAS2R40	0	.	GRCh38	chr7	143222241	143222241	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggcaaaacactccccActggtgaccgcattatgttg	10	8	10	13	1	0	1	0	1	0	0	1	1	1	1	4	3	1	3	4	3	3	2	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.163A>T	p.Thr55Ser	p.T55S	ENST00000408947	1/1	276	175	101	180	180	0	strelka-varscan-mutect	TAS2R40,missense_variant,p.Thr55Ser,ENST00000408947,NM_176882.1;RP11-556I13.2,non_coding_transcript_exon_variant,,ENST00000595842,;RP11-556I13.1,downstream_gene_variant,,ENST00000624211,;	T	ENST00000408947	Transcript	missense_variant	205/1043	163/972	55/323	T/S	Act/Tct		1		1	TAS2R40	HGNC	HGNC:18885	protein_coding	YES	CCDS43662.1	ENSP00000386210	P59535		UPI000000D7CA	NM_176882.1	tolerated(0.26)		1/1		hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF59,Pfam_domain:PF05296,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	69	143222241	143222241	A	T	1	0	0	0	0	1	0	0	0	15977	159	6	4		4	TAS2R40	7	143222241	Missense_Mutation	SNP	A	C3N-01023_TP	348701	143222241	16123732	70	22064											
OR2A42	0	.	GRCh38	chr7	144232806	144232806	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcccaggagaaatcccagtAggaggaactctgtgaccatt	12	7	12	10	0	1	2	0	1	1	1	2	5	2	4	3	4	1	1	3	4	3	2	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.38T>A	p.Leu13Gln	p.L13Q	ENST00000391496	1/1	73	66	7	44	44	0	varscan-mutect	OR2A42,missense_variant,p.Leu13Gln,ENST00000391496,NM_001001802.2;RP4-545C24.1,intron_variant,,ENST00000498693,;RP4-545C24.1,intron_variant,,ENST00000464929,;RP4-545C24.1,intron_variant,,ENST00000460955,;RP4-545C24.1,intron_variant,,ENST00000493248,;RP4-545C24.1,intron_variant,,ENST00000489077,;RP4-545C24.1,intron_variant,,ENST00000477797,;RP4-545C24.1,downstream_gene_variant,,ENST00000480074,;	T	ENST00000391496	Transcript	missense_variant	38/933	38/933	13/310	L/Q	cTa/cAa		1		-1	OR2A42	HGNC	HGNC:31230	protein_coding	YES	CCDS56515.1	ENSP00000375334	Q8NGT9		UPI0000041DF3	NM_001001802.2	deleterious(0)		1/1		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF115,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												T	3	4	69	144232806	144232806	A	T	1	0	0	0	0	1	0	0	0	11057	420	15	4		4	OR2A42	7	144232806	Missense_Mutation	SNP	A	C3N-01023_TP	1010565	144232806	15113167	71	22065											
EN2	0	.	GRCh38	chr7	155458967	155458967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgtcggtgagctcggactCggacagctcgcaagccggcg	6	6	15	14	6	0	1	0	1	0	0	4	3	0	3	2	4	3	3	2	4	1	0	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.590C>T	p.Ser197Leu	p.S197L	ENST00000297375	1/2	275	249	26	189	189	0	strelka-varscan-mutect	EN2,missense_variant,p.Ser197Leu,ENST00000297375,NM_001427.3;AC008060.8,upstream_gene_variant,,ENST00000419225,;	T	ENST00000297375	Transcript	missense_variant	839/3395	590/1002	197/333	S/L	tCg/tTg		1		1	EN2	HGNC	HGNC:3343	protein_coding	YES	CCDS5940.1	ENSP00000297375	P19622		UPI000012CA05	NM_001427.3	deleterious(0.01)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24341:SF5,hmmpanther:PTHR24341																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	155458967	155458967	C	T	1	0	0	0	0	1	0	0	0	4952	893	31	1		1	EN2	7	155458967	Missense_Mutation	SNP	C	C3N-01023_TP	11226161	155458967	3887006	72	22066											
XPO7	0	.	GRCh38	chr8	21969530	21969530	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatgccttaccaagcttgtAtcacgcacaaacaaccccct	13	8	4	16	1	1	0	1	0	0	0	1	0	1	0	4	0	5	3	4	0	5	3			C3N-01023_TP	C3N-01023_NB	A	A																c.213A>G	p.=	p.V71V	ENST00000252512	3/28	347	319	28	270	270	0	strelka-varscan-mutect	XPO7,synonymous_variant,p.=,ENST00000252512,NM_015024.4;XPO7,synonymous_variant,p.=,ENST00000433566,;XPO7,synonymous_variant,p.=,ENST00000521303,;XPO7,non_coding_transcript_exon_variant,,ENST00000518017,;XPO7,downstream_gene_variant,,ENST00000520754,;XPO7,non_coding_transcript_exon_variant,,ENST00000519769,;	G	ENST00000252512	Transcript	synonymous_variant	313/4861	213/3264	71/1087	V	gtA/gtG	COSM1623847	1		1	XPO7	HGNC	HGNC:14108	protein_coding	YES	CCDS47818.1	ENSP00000252512	Q9UIA9		UPI0000134559	NM_015024.4			3/28		PROSITE_profiles:PS50166,hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF11,Pfam_domain:PF03810,SMART_domains:SM00913,Superfamily_domains:SSF48371											1						LOW	1	SNV	1		1	1										PASS		.	.												G	2	3	69	21969530	21969530	A	G	1	0	0	0	0	0	0	0	1	18008	436	16	5		5	XPO7	8	21969530	Silent	SNP	A	C3N-01023_TP		21969530	123169106	73	22067											
LOXL2	0	.	GRCh38	chr8	23341052	23341052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacatgccgcagaccacgCgggaattcttggccgtccag	10	6	11	14	4	1	1	0	0	1	1	2	2	2	2	4	2	2	1	4	2	2	2	rs143787010		C3N-01023_TP	C3N-01023_NB	C	C																c.683G>C	p.Arg228Pro	p.R228P	ENST00000389131	4/14	506	448	58	352	352	0	strelka-varscan-mutect	LOXL2,missense_variant,p.Arg228Pro,ENST00000389131,NM_002318.2;LOXL2,intron_variant,,ENST00000523833,;RP11-177H13.2,non_coding_transcript_exon_variant,,ENST00000519692,;LOXL2,missense_variant,p.Arg42Pro,ENST00000518878,;RP11-177H13.2,non_coding_transcript_exon_variant,,ENST00000517420,;	G	ENST00000389131	Transcript	missense_variant	1053/3549	683/2325	228/774	R/P	cGc/cCc	rs143787010	1		-1	LOXL2	HGNC	HGNC:6666	protein_coding	YES	CCDS34864.1	ENSP00000373783	Q9Y4K0		UPI000012E7AB	NM_002318.2	deleterious(0)		4/14		Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_patterns:PS00420,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF318,SMART_domains:SM00202,Superfamily_domains:SSF56487																	MODERATE	1	SNV	1			1										PASS		rs143787010	.												G	3	3	69	23341052	23341052	C	G	1	0	0	0	0	1	0	0	0	8803	768	27	4		4	LOXL2	8	23341052	Missense_Mutation	SNP	C	C3N-01023_TP	1371522	23341052	121797584	74	22068											
TRIM35	0	.	GRCh38	chr8	27287623	27287623	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctggaggcccggcgcccCgtgcaccccccaggtagaag	6	4	14	17	3	1	1	0	0	1	1	1	2	1	2	6	4	1	3	6	4	2	1	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.1409G>C	p.Arg470Pro	p.R470P	ENST00000305364	6/6	202	143	59	124	124	0	strelka-varscan-mutect	TRIM35,missense_variant,p.Arg470Pro,ENST00000305364,NM_171982.4;TRIM35,intron_variant,,ENST00000521283,;TRIM35,downstream_gene_variant,,ENST00000521253,NM_001304495.1;	G	ENST00000305364	Transcript	missense_variant	1493/4229	1409/1482	470/493	R/P	cGg/cCg		1		-1	TRIM35	HGNC	HGNC:16285	protein_coding	YES	CCDS6056.2	ENSP00000301924	Q9UPQ4		UPI00001649FB	NM_171982.4	tolerated(0.56)		6/6		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF404,hmmpanther:PTHR24103,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs1337467786	.												G	3	3	69	27287623	27287623	C	G	1	0	0	0	0	1	0	0	0	16998	652	23	4		4	TRIM35	8	27287623	Missense_Mutation	SNP	C	C3N-01023_TP	3946571	27287623	117851013	75	22069											
HTRA4	0	.	GRCh38	chr8	38978124	38978124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattcagatatggactacGtccagattgatgccacaatt	13	11	9	8	1	1	3	1	1	0	2	2	5	2	5	2	2	2	0	2	2	3	5			C3N-01023_TP	C3N-01023_NB	G	G																c.943G>A	p.Val315Ile	p.V315I	ENST00000302495	4/9	122	108	14	86	86	0	strelka-varscan-mutect	HTRA4,missense_variant,p.Val315Ile,ENST00000302495,NM_153692.3;PLEKHA2,downstream_gene_variant,,ENST00000617275,NM_021623.1;	A	ENST00000302495	Transcript	missense_variant	1043/2095	943/1431	315/476	V/I	Gtc/Atc	COSM1239105	1		1	HTRA4	HGNC	HGNC:26909	protein_coding	YES	CCDS6110.1	ENSP00000305919	P83105		UPI0000001BEC	NM_153692.3	tolerated(1)		4/9		hmmpanther:PTHR22939,hmmpanther:PTHR22939:SF105,Gene3D:2.40.10.10,Pfam_domain:PF13365,Superfamily_domains:SSF50494,Prints_domain:PR00834											1						MODERATE	1	SNV	1		1	1										PASS		rs1056292241	.												A	3	1	69	38978124	38978124	G	A	1	0	0	0	0	1	0	0	0	7352	1145	40	1		1	HTRA4	8	38978124	Missense_Mutation	SNP	G	C3N-01023_TP	11690501	38978124	106160512	76	22070											
ADAM18	0	.	GRCh38	chr8	39637313	39637313	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacacaaaaaattgtccAggttattgggcttgtcaaca	14	12	8	7	0	1	0	1	0	0	0	2	0	2	0	1	2	2	3	1	2	6	5	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.638A>T	p.Gln213Leu	p.Q213L	ENST00000265707	8/20	74	63	11	81	81	0	strelka-varscan-mutect	ADAM18,missense_variant,p.Gln213Leu,ENST00000265707,NM_014237.2;ADAM18,intron_variant,,ENST00000379866,NM_001320313.1;ADAM18,3_prime_UTR_variant,,ENST00000520087,;	T	ENST00000265707	Transcript	missense_variant	683/2388	638/2220	213/739	Q/L	cAg/cTg		1		1	ADAM18	HGNC	HGNC:196	protein_coding	YES	CCDS6113.1	ENSP00000265707	Q9Y3Q7		UPI00001254D7	NM_014237.2	tolerated(0.05)		8/20		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF158,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	39637313	39637313	A	T	1	0	0	0	0	1	0	0	0	283	188	7	4		4	ADAM18	8	39637313	Missense_Mutation	SNP	A	C3N-01023_TP	659189	39637313	105501323	77	22071											
CYP7A1	0	.	GRCh38	chr8	58494514	58494514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtatacccacctaatactGgcaggtcattcagttctgct	11	12	7	11	0	3	0	2	0	1	0	3	0	3	0	2	2	3	4	2	2	5	6	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.1031C>A	p.Pro344Gln	p.P344Q	ENST00000301645	4/6	387	302	85	310	310	0	strelka-varscan-mutect	CYP7A1,missense_variant,p.Pro344Gln,ENST00000301645,NM_000780.3;	T	ENST00000301645	Transcript	missense_variant	1169/2950	1031/1515	344/504	P/Q	cCa/cAa		1		-1	CYP7A1	HGNC	HGNC:2651	protein_coding	YES	CCDS6171.1	ENSP00000301645	P22680		UPI0000128214	NM_000780.3	deleterious(0.04)		4/6		hmmpanther:PTHR24304,hmmpanther:PTHR24304:SF1,Pfam_domain:PF00067,PIRSF_domain:PIRSF000047,Gene3D:1.10.630.10,PIRSF_domain:PIRSF500625,Superfamily_domains:SSF48264,Prints_domain:PR00465																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	58494514	58494514	G	T	1	0	0	0	0	1	0	0	0	3999	1348	47	2		2	CYP7A1	8	58494514	Missense_Mutation	SNP	G	C3N-01023_TP	18857201	58494514	86644122	78	22072											
TRIM55	0	.	GRCh38	chr8	66174475	66174475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttcttccattgcagattgGatttgaggctcctcccctcc	5	16	7	13	0	1	2	0	1	1	1	5	3	5	3	5	2	1	2	5	2	0	6	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.1529G>T	p.Gly510Val	p.G510V	ENST00000315962	10/10	254	189	65	240	240	0	strelka-varscan-mutect	TRIM55,missense_variant,p.Gly510Val,ENST00000315962,NM_184085.1;TRIM55,missense_variant,p.Gly414Val,ENST00000353317,NM_184086.1;TRIM55,missense_variant,p.Trp539Cys,ENST00000276573,NM_033058.2;TRIM55,missense_variant,p.Gly203Val,ENST00000350034,NM_184087.1;CRH,downstream_gene_variant,,ENST00000276571,NM_000756.2;TRIM55,non_coding_transcript_exon_variant,,ENST00000517647,;	T	ENST00000315962	Transcript	missense_variant	1902/2914	1529/1647	510/548	G/V	gGa/gTa		1		1	TRIM55	HGNC	HGNC:14215	protein_coding	YES	CCDS6184.1	ENSP00000323913	Q9BYV6		UPI00001CE3B7	NM_184085.1	deleterious_low_confidence(0.01)		10/10																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	66174475	66174475	G	T	1	0	0	0	0	1	0	0	0	17022	1188	41	2		2	TRIM55	8	66174475	Missense_Mutation	SNP	G	C3N-01023_TP	7679961	66174475	78964161	79	22073											
FREM1	0	.	GRCh38	chr9	14868890	14868890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcaccctcaccccgcGgttgatgctgatgaaggtgg	7	10	11	13	2	3	3	3	3	0	0	3	3	3	3	3	3	1	2	3	3	1	2	rs758674491		C3N-01023_TP	C3N-01023_NB	G	G																c.88C>A	p.Arg30Ser	p.R30S	ENST00000422223	3/38	167	121	46	109	108	1	strelka-varscan-mutect	FREM1,missense_variant,p.Arg30Ser,ENST00000422223,NM_144966.5;FREM1,missense_variant,p.Arg30Ser,ENST00000380880,;FREM1,missense_variant,p.Arg30Ser,ENST00000380875,;	T	ENST00000422223	Transcript	missense_variant	904/10086	88/6540	30/2179	R/S	Cgc/Agc	rs758674491,COSM1554447,COSM4685579	1		-1	FREM1	HGNC	HGNC:23399	protein_coding	YES	CCDS47952.1	ENSP00000412940	Q5H8C1		UPI000057A218	NM_144966.5	tolerated(0.68)		3/38		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF24											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs758674491	.												T	3	4	69	14868890	14868890	G	T	1	0	0	0	0	1	0	0	0	5911	1116	39	1		1	FREM1	9	14868890	Missense_Mutation	SNP	G	C3N-01023_TP		14868890	123525827	80	22074											
FRMPD1	0	.	GRCh38	chr9	37740797	37740797	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctggaacccctggccctgCacccaccactggcctttgag	6	8	10	17	0	0	1	0	1	0	0	0	2	0	2	6	3	3	2	6	3	1	1	rs767267038		C3N-01023_TP	C3N-01023_NB	C	C																c.2269C>G	p.His757Asp	p.H757D	ENST00000539465	15/16	215	193	22	132	132	0	strelka-varscan-mutect	FRMPD1,missense_variant,p.His757Asp,ENST00000539465,;FRMPD1,missense_variant,p.His757Asp,ENST00000377765,NM_014907.2;RP11-613M10.9,intron_variant,,ENST00000540557,;	G	ENST00000539465	Transcript	missense_variant	2862/5465	2269/4737	757/1578	H/D	Cac/Gac	rs767267038	1		1	FRMPD1	HGNC	HGNC:29159	protein_coding	YES	CCDS6612.1	ENSP00000444411	Q5SYB0		UPI000013D2CC		tolerated(0.56)		15/16																			MODERATE	1	SNV	1			1										PASS		rs767267038	.												G	3	3	69	37740797	37740797	C	G	1	0	0	0	0	1	0	0	0	5927	710	25	4		4	FRMPD1	9	37740797	Missense_Mutation	SNP	C	C3N-01023_TP	22871907	37740797	100653920	81	22075											
SPATA31A6	0	.	GRCh38	chr9	42183691	42183691	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaacgtgcctattcacatgGagaatcttccctttccttta	9	14	6	12	1	2	1	1	0	1	1	4	2	4	1	3	1	2	1	3	1	4	6	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.4G>T	p.Glu2Ter	p.E2*	ENST00000332857	1/4	114	69	45	83	83	0	strelka-varscan-mutect	SPATA31A6,stop_gained,p.Glu2Ter,ENST00000332857,NM_001145196.1;SPATA31A6,upstream_gene_variant,,ENST00000496386,;	T	ENST00000332857	Transcript	stop_gained	33/4209	4/4032	2/1343	E/*	Gag/Tag		1		1	SPATA31A6	HGNC	HGNC:32006	protein_coding	YES	CCDS75837.1	ENSP00000329825	Q5VVP1		UPI0000197F6E	NM_001145196.1			1/4		hmmpanther:PTHR21859:SF18,hmmpanther:PTHR21859																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	69	42183691	42183691	G	T	1	0	0	0	0	0	1	0	0	15345	1175	41	2		2	SPATA31A6	9	42183691	Nonsense_Mutation	SNP	G	C3N-01023_TP	4442894	42183691	96211026	82	22076											
ZCCHC6	0	.	GRCh38	chr9	86322979	86322979	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccttgagacttattttaTtaagttccactaggagagct	10	16	7	8	0	0	2	0	1	0	2	2	4	2	2	2	1	1	2	2	1	4	8	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.2771A>C	p.Asn924Thr	p.N924T	ENST00000375963	13/27	149	130	19	129	129	0	strelka-varscan-mutect	ZCCHC6,missense_variant,p.Asn213Thr,ENST00000277141,;ZCCHC6,missense_variant,p.Asn924Thr,ENST00000375963,NM_024617.3,NM_001185059.1;ZCCHC6,missense_variant,p.Asn801Thr,ENST00000375960,NM_001185074.1;ZCCHC6,upstream_gene_variant,,ENST00000375957,;ZCCHC6,downstream_gene_variant,,ENST00000469004,;	G	ENST00000375963	Transcript	missense_variant	2944/5379	2771/4488	924/1495	N/T	aAt/aCt		1		-1	ZCCHC6	HGNC	HGNC:25817	protein_coding	YES	CCDS35057.1	ENSP00000365130	Q5VYS8		UPI00004588F6	NM_024617.3,NM_001185059.1	tolerated(0.06)		13/27																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	69	86322979	86322979	T	G	1	0	0	0	0	1	0	0	0	18167	1493	52	5		5	ZCCHC6	9	86322979	Missense_Mutation	SNP	T	C3N-01023_TP	44139288	86322979	52071738	83	22077											
OR13D1	0	.	GRCh38	chr9	104695009	104695009	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcaaacagttctgacaatGatgttgcctttctgtgggaa	10	14	10	7	0	2	2	0	2	2	0	2	3	2	3	1	1	3	3	1	1	3	4	rs149708960		C3N-01023_TP	C3N-01023_NB	G	G																c.588G>C	p.Met196Ile	p.M196I	ENST00000318763	1/1	308	274	34	257	257	0	strelka-varscan-mutect	OR13D1,missense_variant,p.Met196Ile,ENST00000318763,NM_001004484.1;	C	ENST00000318763	Transcript	missense_variant	588/1041	588/1041	196/346	M/I	atG/atC	rs149708960,COSM3652587	1		1	OR13D1	HGNC	HGNC:14695	protein_coding	YES	CCDS35094.1	ENSP00000317357	Q8NGV5		UPI0000061E68	NM_001004484.1	tolerated(0.23)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF268,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs149708960	.												C	3	2	69	104695009	104695009	G	C	1	0	0	0	0	1	0	0	0	11016	1290	45	4		4	OR13D1	9	104695009	Missense_Mutation	SNP	G	C3N-01023_TP	18372030	104695009	33699708	84	22078											
SVEP1	0	.	GRCh38	chr9	110408111	110408111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccttgggtttcaggcactCaatggctttacatgttggtt	6	16	10	9	0	2	0	2	0	0	0	3	0	3	0	1	4	1	5	1	4	2	6	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.7489G>A	p.Glu2497Lys	p.E2497K	ENST00000374469	38/48	342	289	53	243	243	0	strelka-varscan-mutect	SVEP1,missense_variant,p.Glu2500Lys,ENST00000401783,;SVEP1,missense_variant,p.Glu2497Lys,ENST00000374469,NM_153366.3;	T	ENST00000374469	Transcript	missense_variant	7684/12194	7489/10716	2497/3571	E/K	Gag/Aag		1		-1	SVEP1	HGNC	HGNC:15985	protein_coding	YES	CCDS48004.1	ENSP00000363593	Q4LDE5		UPI000153DA74	NM_153366.3	tolerated(0.22)		38/48		Gene3D:2.10.70.10,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	69	110408111	110408111	C	T	1	0	0	0	0	1	0	0	0	15805	835	29	3		3	SVEP1	9	110408111	Missense_Mutation	SNP	C	C3N-01023_TP	5713102	110408111	27986606	85	22079											
TLR4	0	.	GRCh38	chr9	117713300	117713300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgagtttcaaaggttgctGttctcaaagtgattttggga	9	16	11	5	0	2	2	2	2	1	0	3	3	2	3	0	2	1	4	0	2	2	6	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.1172G>T	p.Cys391Phe	p.C391F	ENST00000355622	3/3	397	306	91	257	257	0	strelka-varscan-mutect	TLR4,missense_variant,p.Cys391Phe,ENST00000355622,NM_138554.4;TLR4,missense_variant,p.Cys351Phe,ENST00000394487,NM_003266.3;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;TLR4,downstream_gene_variant,,ENST00000490685,;	T	ENST00000355622	Transcript	missense_variant	1273/4844	1172/2520	391/839	C/F	tGt/tTt		1		1	TLR4	HGNC	HGNC:11850	protein_coding	YES	CCDS6818.1	ENSP00000363089	O00206		UPI0000137057	NM_138554.4	deleterious(0.01)		3/3		PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	117713300	117713300	G	T	1	0	0	0	0	1	0	0	0	16399	1377	48	2		2	TLR4	9	117713300	Missense_Mutation	SNP	G	C3N-01023_TP	7305189	117713300	20681417	86	22080											
CACNA1B	0	.	GRCh38	chr9	138023747	138023747	+	Missense_Mutation	SNP	A	A	C																															agaccacggagaaggaggccAcggagaaggaggctgagata																								novel		C3N-01023_TP	C3N-01023_NB	A	A																c.3004A>C	p.Thr1002Pro	p.T1002P	ENST00000371372	19/47	397	360	37	287	287	0	strelka-varscan-mutect	CACNA1B,missense_variant,p.Thr1002Pro,ENST00000371372,NM_000718.3;CACNA1B,missense_variant,p.Thr1002Pro,ENST00000371363,;CACNA1B,missense_variant,p.Thr1003Pro,ENST00000371355,;CACNA1B,missense_variant,p.Thr1003Pro,ENST00000371357,;CACNA1B,missense_variant,p.Thr1002Pro,ENST00000277549,;CACNA1B,missense_variant,p.Thr1002Pro,ENST00000277551,NM_001243812.1;	C	ENST00000371372	Transcript	missense_variant	3149/9790	3004/7020	1002/2339	T/P	Acg/Ccg		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3	tolerated(0.28)		19/47		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	69	138023747	138023747	A	C	1	0	0	0	0	1	0	0	0	2227	159	6	5		5	CACNA1B	9	138023747	Missense_Mutation	SNP	A	C3N-01023_TP	20310447	138023747	370970	87	22081	468	2									
CACNA1B	0	.	GRCh38	chr9	138023749	138023749	+	Silent	SNP	G	G	T																															accacggagaaggaggccacGgagaaggaggctgagatagt																								novel		C3N-01023_TP	C3N-01023_NB	G	G																c.3006G>T	p.=	p.T1002T	ENST00000371372	19/47	394	356	38	295	295	0	strelka-varscan-mutect	CACNA1B,synonymous_variant,p.=,ENST00000371372,NM_000718.3;CACNA1B,synonymous_variant,p.=,ENST00000371363,;CACNA1B,synonymous_variant,p.=,ENST00000371355,;CACNA1B,synonymous_variant,p.=,ENST00000371357,;CACNA1B,synonymous_variant,p.=,ENST00000277549,;CACNA1B,synonymous_variant,p.=,ENST00000277551,NM_001243812.1;	T	ENST00000371372	Transcript	synonymous_variant	3151/9790	3006/7020	1002/2339	T	acG/acT		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3			19/47		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs1362026962	.												T	2	4	69	138023749	138023749	G	T	1	0	0	0	0	0	0	0	1	2227	1103	39	1		1	CACNA1B	9	138023749	Silent	SNP	G	C3N-01023_TP	2	138023749	370968	88	22082	468	2									
FAM208B	0	.	GRCh38	chr10	5730604	5730604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaagaaagaatccatcCaaacacattagtaaagcgtc	17	8	6	10	1	0	3	0	1	0	2	4	3	3	3	3	0	2	1	3	0	7	2	rs748092041		C3N-01023_TP	C3N-01023_NB	C	C																c.605C>T	p.Pro202Leu	p.P202L	ENST00000328090	11/21	163	139	24	153	153	0	strelka-varscan-mutect	FAM208B,missense_variant,p.Pro202Leu,ENST00000328090,NM_001321784.1,NM_001321783.1,NM_017782.4;FAM208B,upstream_gene_variant,,ENST00000380270,;RP11-336A10.2,intron_variant,,ENST00000411512,;FAM208B,non_coding_transcript_exon_variant,,ENST00000532080,;	T	ENST00000328090	Transcript	missense_variant	1230/8626	605/7293	202/2430	P/L	cCa/cTa	rs748092041	1		1	FAM208B	HGNC	HGNC:23484	protein_coding	YES	CCDS41485.1	ENSP00000328426	Q5VWN6		UPI00004589BB	NM_001321784.1,NM_001321783.1,NM_017782.4	tolerated(0.39)		11/21		hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10																	MODERATE	1	SNV	1			1										PASS		rs748092041	.												T	3	4	69	5730604	5730604	C	T	1	0	0	0	0	1	0	0	0	5390	594	21	3		3	FAM208B	10	5730604	Missense_Mutation	SNP	C	C3N-01023_TP		5730604	128066818	89	22083											
SFMBT2	0	.	GRCh38	chr10	7197620	7197620	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaatccttcctttgttcagGtaagggcctgagaaacacct	10	11	9	11	0	1	1	1	1	0	1	3	2	3	1	4	2	1	3	4	2	3	4	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.1626C>T	p.=	p.Y542Y	ENST00000397167	15/21	202	187	15	176	176	0	strelka-varscan-mutect	SFMBT2,synonymous_variant,p.=,ENST00000397167,NM_001029880.2;SFMBT2,synonymous_variant,p.=,ENST00000361972,NM_001018039.1;	A	ENST00000397167	Transcript	synonymous_variant	1819/8024	1626/2685	542/894	Y	taC/taT		1		-1	SFMBT2	HGNC	HGNC:20256	protein_coding	YES	CCDS31138.1	ENSP00000380353	Q5VUG0		UPI00001C1EDF	NM_001029880.2			15/21		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62,Pfam_domain:PF12140																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	69	7197620	7197620	G	A	1	0	0	0	0	0	0	0	1	14436	1256	44	3		3	SFMBT2	10	7197620	Silent	SNP	G	C3N-01023_TP	1467016	7197620	126599802	90	22084											
ANKRD30A	0	.	GRCh38	chr10	37219382	37219382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcaagaacctgctttcCacattgcaggagatgcttgt	12	11	9	9	0	1	2	1	0	0	2	2	3	2	2	2	1	4	3	2	1	3	3			C3N-01023_TP	C3N-01023_NB	C	C																c.3502C>T	p.His1168Tyr	p.H1168Y	ENST00000361713	34/36	224	177	47	153	153	0	strelka-varscan-mutect	ANKRD30A,missense_variant,p.His1287Tyr,ENST00000374660,;ANKRD30A,missense_variant,p.His1224Tyr,ENST00000611781,;ANKRD30A,missense_variant,p.His1168Tyr,ENST00000602533,;ANKRD30A,missense_variant,p.His1168Tyr,ENST00000361713,NM_052997.2;	T	ENST00000361713	Transcript	missense_variant	3601/4405	3502/4026	1168/1341	H/Y	Cac/Tac	COSM3437657,COSM3437658	1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2	deleterious(0.03)		34/36		hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147,Pfam_domain:PF14915											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	69	37219382	37219382	C	T	1	0	0	0	0	1	0	0	0	761	594	21	3		3	ANKRD30A	10	37219382	Missense_Mutation	SNP	C	C3N-01023_TP	30021762	37219382	96578040	91	22085											
ADO	0	.	GRCh38	chr10	62805188	62805188	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggcccggaggcgccgatGcagccgggcttccccgagaa	6	5	15	15	5	1	1	0	0	1	1	2	4	2	2	5	4	2	2	5	4	1	1	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.129G>C	p.Met43Ile	p.M43I	ENST00000373783	1/1	149	130	19	94	94	0	strelka-varscan-mutect	ADO,missense_variant,p.Met43Ile,ENST00000373783,NM_032804.5;RP11-436D10.3,intron_variant,,ENST00000425290,;	C	ENST00000373783	Transcript	missense_variant	332/3627	129/813	43/270	M/I	atG/atC		1		1	ADO	HGNC	HGNC:23506	protein_coding	YES	CCDS7266.2	ENSP00000362888	Q96SZ5		UPI00001F8D78	NM_032804.5	tolerated_low_confidence(0.26)		1/1		Superfamily_domains:SSF51182																	MODERATE		SNV				1										PASS		.	.												C	3	2	69	62805188	62805188	G	C	1	0	0	0	0	1	0	0	0	400	1319	46	4		4	ADO	10	62805188	Missense_Mutation	SNP	G	C3N-01023_TP	25585806	62805188	70992234	92	22086											
DNA2	0	.	GRCh38	chr10	68445033	68445033	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtctagtagcagatttgcTaatacggtgaaacaatgaga	14	11	10	6	1	1	3	0	2	1	2	1	4	1	3	0	1	4	3	0	1	6	5	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.1108A>T	p.Ser370Cys	p.S370C	ENST00000358410	8/21	188	136	52	149	149	0	strelka-varscan-mutect	DNA2,missense_variant,p.Ser370Cys,ENST00000358410,NM_001080449.2;DNA2,missense_variant,p.Ser370Cys,ENST00000551118,;DNA2,missense_variant,p.Ser370Cys,ENST00000399180,;DNA2,missense_variant,p.Ser370Cys,ENST00000399179,;DNA2,upstream_gene_variant,,ENST00000478029,;	A	ENST00000358410	Transcript	missense_variant	1159/4208	1108/3183	370/1060	S/C	Agc/Tgc		1		-1	DNA2	HGNC	HGNC:2939	protein_coding	YES	CCDS44415.2	ENSP00000351185	P51530		UPI00001C1EDB	NM_001080449.2	tolerated(0.16)		8/21		hmmpanther:PTHR10887:SF14,hmmpanther:PTHR10887																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	68445033	68445033	T	A	1	0	0	0	0	1	0	0	0	4405	1522	53	4		4	DNA2	10	68445033	Missense_Mutation	SNP	T	C3N-01023_TP	5639845	68445033	65352389	93	22087											
KCNMA1	0	.	GRCh38	chr10	76891603	76891603	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctattggccagtgtctgcggGgtgctgtagccacctctaag	6	11	13	11	1	2	0	0	0	2	0	2	0	2	0	3	3	3	2	3	3	3	4	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.3264C>T	p.=	p.T1088T	ENST00000286628	26/28	585	478	107	384	384	0	strelka-varscan-mutect	KCNMA1,synonymous_variant,p.=,ENST00000604624,NM_001322832.1,NM_001322829.1;KCNMA1,synonymous_variant,p.=,ENST00000286627,NM_002247.3;KCNMA1,synonymous_variant,p.=,ENST00000286628,NM_001161352.1;KCNMA1,synonymous_variant,p.=,ENST00000354353,;KCNMA1,synonymous_variant,p.=,ENST00000406533,NM_001322837.1,NM_001271519.1;KCNMA1,synonymous_variant,p.=,ENST00000372443,;KCNMA1,synonymous_variant,p.=,ENST00000372440,NM_001014797.2;KCNMA1,synonymous_variant,p.=,ENST00000404771,;KCNMA1,synonymous_variant,p.=,ENST00000457953,;KCNMA1,synonymous_variant,p.=,ENST00000626620,NM_001161353.1;KCNMA1,synonymous_variant,p.=,ENST00000372437,;KCNMA1,synonymous_variant,p.=,ENST00000372421,;KCNMA1,synonymous_variant,p.=,ENST00000372408,;KCNMA1,synonymous_variant,p.=,ENST00000372403,;KCNMA1,synonymous_variant,p.=,ENST00000404857,NM_001271518.1;KCNMA1,synonymous_variant,p.=,ENST00000434208,;KCNMA1-AS1,non_coding_transcript_exon_variant,,ENST00000609102,;KCNMA1-AS1,intron_variant,,ENST00000429850,;KCNMA1-AS1,intron_variant,,ENST00000426234,;KCNMA1-AS1,intron_variant,,ENST00000458661,;KCNMA1-AS1,intron_variant,,ENST00000595702,;KCNMA1,upstream_gene_variant,,ENST00000468471,;	A	ENST00000286628	Transcript	synonymous_variant	3264/6100	3264/3711	1088/1236	T	acC/acT		1		-1	KCNMA1	HGNC	HGNC:6284	protein_coding	YES	CCDS60569.1	ENSP00000286628	Q12791		UPI00003519E7	NM_001161352.1			26/28		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF28																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	69	76891603	76891603	G	A	1	0	0	0	0	0	0	0	1	7990	1219	43	3		3	KCNMA1	10	76891603	Silent	SNP	G	C3N-01023_TP	8446570	76891603	56905819	94	22088											
LIPF	0	.	GRCh38	chr10	88675659	88675659	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgttccattggacccaggTattcttttccaaatgctgtt	8	16	7	10	0	1	0	0	0	1	0	3	1	3	1	3	2	1	4	3	2	2	7	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.918+2T>C		p.X306_splice	ENST00000394375		141	128	13	113	113	0	strelka-varscan-mutect	LIPF,splice_donor_variant,,ENST00000394375,NM_001198829.1;LIPF,splice_donor_variant,,ENST00000238983,NM_004190.3;LIPF,splice_donor_variant,,ENST00000355843,NM_001198830.1;LIPF,splice_donor_variant,,ENST00000608620,NM_001198828.1;LIPF,splice_donor_variant,,ENST00000496797,;	C	ENST00000394375	Transcript	splice_donor_variant	-/1470	918/1227	306/408				1		1	LIPF	HGNC	HGNC:6622	protein_coding	YES	CCDS55718.1	ENSP00000377900	P07098		UPI0001E92A2A	NM_001198829.1				9/10																		HIGH	1	SNV	2			1										PASS		.	.												C	5	2	69	88675659	88675659	T	C	1	0	0	0	0	0	0	1	0	8743	1652	57	5		5	LIPF	10	88675659	Splice_Site	SNP	T	C3N-01023_TP	11784056	88675659	45121763	95	22089											
SORCS3	0	.	GRCh38	chr10	105223208	105223208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgtgtggcccagtcaactgGggacccttacctatttctgg	6	12	11	12	1	2	0	1	0	1	0	3	1	2	1	3	4	2	0	3	4	3	3	rs746806515		C3N-01023_TP	C3N-01023_NB	G	G																c.2827G>T	p.Gly943Trp	p.G943W	ENST00000369701	20/27	105	87	18	72	72	0	strelka-varscan-mutect	SORCS3,missense_variant,p.Gly943Trp,ENST00000369701,NM_014978.2;SORCS3,missense_variant,p.Gly943Trp,ENST00000369699,;	T	ENST00000369701	Transcript	missense_variant	3054/5757	2827/3669	943/1222	G/W	Ggg/Tgg	rs746806515,COSM1345688	1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2	deleterious(0.01)		20/27		Gene3D:2.60.40.670,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,Superfamily_domains:SSF49299											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs746806515	.												T	3	4	69	105223208	105223208	G	T	1	0	0	0	0	1	0	0	0	15254	1232	43	2		2	SORCS3	10	105223208	Missense_Mutation	SNP	G	C3N-01023_TP	16547549	105223208	28574214	96	22090											
SHOC2	0	.	GRCh38	chr10	111007541	111007541	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttgccaggacaatcagtTaacatcacttcccttggatt	10	14	6	11	0	3	0	2	0	1	0	4	2	4	2	2	2	2	1	2	2	2	5	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.1172T>A	p.Leu391Ter	p.L391*	ENST00000369452	6/9	413	368	45	318	318	0	strelka-varscan-mutect	SHOC2,stop_gained,p.Leu391Ter,ENST00000369452,NM_001324336.1,NM_001324337.1,NM_007373.3;SHOC2,stop_gained,p.Leu345Ter,ENST00000265277,NM_001269039.1;SHOC2,stop_gained,p.Leu181Ter,ENST00000451838,;SHOC2,non_coding_transcript_exon_variant,,ENST00000489390,;	A	ENST00000369452	Transcript	stop_gained	1517/3943	1172/1749	391/582	L/*	tTa/tAa		1		1	SHOC2	HGNC	HGNC:15454	protein_coding	YES	CCDS7568.1	ENSP00000358464	Q9UQ13		UPI0000135954	NM_001324336.1,NM_001324337.1,NM_007373.3			6/9		PROSITE_profiles:PS51450,Gene3D:3.80.10.10,Superfamily_domains:SSF52058,Superfamily_domains:SSF52058																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	69	111007541	111007541	T	A	1	0	0	0	0	0	1	0	0	14550	1764	61	4		4	SHOC2	10	111007541	Nonsense_Mutation	SNP	T	C3N-01023_TP	5784333	111007541	22789881	97	22091											
TOLLIP	0	.	GRCh38	chr11	1290388	1290388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtccatgcgggtcatgcCgtaattcttggccaactttg	6	12	13	10	2	2	0	1	0	1	0	3	0	3	0	3	4	3	1	3	4	2	4	rs143130045		C3N-01023_TP	C3N-01023_NB	C	C																c.205G>T	p.Gly69Cys	p.G69C	ENST00000317204	3/6	101	83	18	84	84	0	strelka-varscan-mutect	TOLLIP,missense_variant,p.Gly69Cys,ENST00000317204,NM_001318512.1,NM_019009.3;TOLLIP,missense_variant,p.Gly41Cys,ENST00000263646,;TOLLIP,missense_variant,p.Gly19Cys,ENST00000530541,;TOLLIP,5_prime_UTR_variant,,ENST00000527886,NM_001318514.1;TOLLIP,intron_variant,,ENST00000525159,NM_001318516.1;TOLLIP,intron_variant,,ENST00000527938,;TOLLIP,non_coding_transcript_exon_variant,,ENST00000528719,;TOLLIP,downstream_gene_variant,,ENST00000527638,;TOLLIP,missense_variant,p.Gly19Cys,ENST00000530506,;TOLLIP,non_coding_transcript_exon_variant,,ENST00000527746,;TOLLIP,downstream_gene_variant,,ENST00000532551,;	A	ENST00000317204	Transcript	missense_variant	329/3617	205/825	69/274	G/C	Ggc/Tgc	rs143130045,COSM687237	1		-1	TOLLIP	HGNC	HGNC:16476	protein_coding	YES	CCDS7723.1	ENSP00000314733	Q9H0E2	Q6FIE9	UPI0000035D9F	NM_001318512.1,NM_019009.3	deleterious(0)		3/6		hmmpanther:PTHR16461:SF5,hmmpanther:PTHR16461,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs143130045	.												A	3	1	69	1290388	1290388	C	A	1	0	0	0	0	1	0	0	0	16824	652	23	1		1	TOLLIP	11	1290388	Missense_Mutation	SNP	C	C3N-01023_TP		1290388	133796234	98	22092											
DBX1	0	.	GRCh38	chr11	20156520	20156520	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgctagacaggagttcGcgctccttggagttccgcca	6	8	11	16	4	0	1	0	0	0	1	3	3	2	3	5	2	0	4	5	2	1	4	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.726C>T	p.=	p.R242R	ENST00000524983	4/4	431	367	64	346	346	0	strelka-varscan-mutect	DBX1,synonymous_variant,p.=,ENST00000524983,NM_001029865.2;	A	ENST00000524983	Transcript	synonymous_variant	1015/1380	726/1032	242/343	R	cgC/cgT		1		-1	DBX1	HGNC	HGNC:33185	protein_coding	YES		ENSP00000436881	A6NMT0		UPI000013C8B1	NM_001029865.2			4/4		hmmpanther:PTHR24331,hmmpanther:PTHR24331:SF6,SMART_domains:SM00389																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	69	20156520	20156520	G	A	1	0	0	0	0	0	0	0	1	4059	1074	38	1		1	DBX1	11	20156520	Silent	SNP	G	C3N-01023_TP	18866132	20156520	114930102	99	22093											
KIAA1549L	0	.	GRCh38	chr11	33542625	33542625	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcagaactgtcccatccGtctccccctcccccagcact	7	8	6	20	1	1	1	0	0	1	1	5	1	4	1	6	1	2	2	6	1	1	0	rs58783133		C3N-01023_TP	C3N-01023_NB	G	G																c.171G>T	p.=	p.P57P	ENST00000321505	1/20	144	120	24	103	103	0	strelka-varscan-mutect	KIAA1549L,synonymous_variant,p.=,ENST00000321505,NM_012194.2;KIAA1549L,synonymous_variant,p.=,ENST00000265654,;KIAA1549L,intron_variant,,ENST00000526400,;	T	ENST00000321505	Transcript	synonymous_variant	351/11678	171/5550	57/1849	P	ccG/ccT	rs58783133	1		1	KIAA1549L	HGNC	HGNC:24836	protein_coding	YES	CCDS44565.2	ENSP00000315295	Q6ZVL6		UPI0000E59322	NM_012194.2			1/20		Low_complexity_(Seg):seg,hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3																	LOW	1	SNV	1			1										PASS		rs58783133	.												T	2	4	69	33542625	33542625	G	T	1	0	0	0	0	0	0	0	1	8121	1132	40	1		1	KIAA1549L	11	33542625	Silent	SNP	G	C3N-01023_TP	13386105	33542625	101543997	100	22094											
CHST1	0	.	GRCh38	chr11	45650192	45650192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgtgtcgcggaaggtctcGctgcgcgaagccagaatgcc	8	7	14	12	6	1	1	0	0	1	1	3	3	1	2	2	2	4	1	2	2	4	1			C3N-01023_TP	C3N-01023_NB	G	G																c.732C>T	p.=	p.S244S	ENST00000308064	4/4	180	154	26	124	124	0	strelka-varscan-mutect	CHST1,synonymous_variant,p.=,ENST00000308064,NM_003654.5;RP11-495O11.1,upstream_gene_variant,,ENST00000525563,;CHST1,upstream_gene_variant,,ENST00000533673,;CHST1,downstream_gene_variant,,ENST00000531322,;	A	ENST00000308064	Transcript	synonymous_variant	1403/2718	732/1236	244/411	S	agC/agT	COSM1492521	1		-1	CHST1	HGNC	HGNC:1969	protein_coding	YES	CCDS7913.1	ENSP00000309270	O43916		UPI0000073EA0	NM_003654.5			4/4		hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF36,Pfam_domain:PF00685,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540											1						LOW	1	SNV	1		1	1										PASS		rs1006152663	.												A	2	1	69	45650192	45650192	G	A	1	0	0	0	0	0	0	0	1	3157	1078	38	1		1	CHST1	11	45650192	Silent	SNP	G	C3N-01023_TP	12107567	45650192	89436430	101	22095											
OR5W2	0	.	GRCh38	chr11	55914180	55914180	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacactctgctagacatgtTgactgtatagagcagggggt	10	10	13	8	0	1	3	0	1	1	2	1	3	1	3	0	2	2	5	0	2	3	4	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.403A>T	p.Asn135Tyr	p.N135Y	ENST00000344514	1/1	106	91	15	99	99	0	strelka-varscan-mutect	OR5W2,missense_variant,p.Asn135Tyr,ENST00000344514,NM_001001960.1;	A	ENST00000344514	Transcript	missense_variant	403/933	403/933	135/310	N/Y	Aac/Tac		1		-1	OR5W2	HGNC	HGNC:15299	protein_coding	YES	CCDS31513.1	ENSP00000342448	Q8NH69		UPI0000061E8D	NM_001001960.1	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF58,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	69	55914180	55914180	T	A	1	0	0	0	0	1	0	0	0	11253	1812	63	4		4	OR5W2	11	55914180	Missense_Mutation	SNP	T	C3N-01023_TP	10263988	55914180	79172442	102	22096											
OR5B12	0	.	GRCh38	chr11	58439830	58439830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggaggaaactttctgCagtgataaaggctacaaaga	15	8	11	7	0	1	2	0	1	1	1	1	4	1	4	1	3	4	2	1	3	5	3	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.322G>A	p.Ala108Thr	p.A108T	ENST00000302572	1/1	373	320	53	340	340	0	strelka-varscan-mutect	OR5B12,missense_variant,p.Ala108Thr,ENST00000302572,NM_001004733.2;	T	ENST00000302572	Transcript	missense_variant	344/1054	322/945	108/314	A/T	Gca/Aca		1		-1	OR5B12	HGNC	HGNC:15432	protein_coding	YES	CCDS31551.1	ENSP00000306657	Q96R08		UPI00000015B2	NM_001004733.2	tolerated_low_confidence(0.21)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF15,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	69	58439830	58439830	C	T	1	0	0	0	0	1	0	0	0	11219	710	25	3		3	OR5B12	11	58439830	Missense_Mutation	SNP	C	C3N-01023_TP	2525650	58439830	76646792	103	22097											
TRIM77	0	.	GRCh38	chr11	89710453	89710453	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacactaactcctaattgctGccctgtgtgcagggaaatat	11	12	8	10	0	0	0	0	0	0	0	1	1	1	1	2	1	5	2	2	1	5	5	rs545633553		C3N-01023_TP	C3N-01023_NB	G	G																c.155G>C	p.Cys52Ser	p.C52S	ENST00000398290	1/6	162	146	16	128	128	0	strelka-varscan-mutect	TRIM77,missense_variant,p.Cys52Ser,ENST00000398290,NM_001146162.1,NM_001271942.1;TRIM77,upstream_gene_variant,,ENST00000534392,;	C	ENST00000398290	Transcript	missense_variant	155/1353	155/1353	52/450	C/S	tGc/tCc	rs545633553	1		1	TRIM77	HGNC	HGNC:34228	protein_coding	YES	CCDS60929.1	ENSP00000474003	I1YAP6		UPI00001607F2	NM_001146162.1,NM_001271942.1	deleterious(0)		1/6		PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF353,Pfam_domain:PF00097,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850																	MODERATE	1	SNV	5			1										PASS		rs545633553	.												C	3	2	69	89710453	89710453	G	C	1	0	0	0	0	1	0	0	0	17044	1319	46	4		4	TRIM77	11	89710453	Missense_Mutation	SNP	G	C3N-01023_TP	31270623	89710453	45376169	104	22098											
ATM	0	.	GRCh38	chr11	108317487	108317487	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattaccaagcagcatggAggaatatgcagtgggaccat	13	9	11	8	0	1	0	1	0	0	0	1	3	1	3	2	3	4	3	2	3	4	3	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.6313A>T	p.Arg2105Trp	p.R2105W	ENST00000278616	43/63	413	347	66	310	308	2	strelka-varscan-mutect	ATM,missense_variant,p.Arg2105Trp,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Arg2105Trp,ENST00000452508,;C11orf65,intron_variant,,ENST00000525729,;ATM,downstream_gene_variant,,ENST00000532765,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,downstream_gene_variant,,ENST00000529588,;	T	ENST00000278616	Transcript	missense_variant	6698/13147	6313/9171	2105/3056	R/W	Agg/Tgg		1		1	ATM	HGNC	HGNC:795	protein_coding	YES	CCDS31669.1	ENSP00000278616	Q13315	A0A024R3C7	UPI000016B511	NM_000051.3	deleterious(0)		43/63		PROSITE_profiles:PS51189,hmmpanther:PTHR11139:SF72,hmmpanther:PTHR11139,Pfam_domain:PF02259																	MODERATE	1	SNV	5			1										PASS		rs879253983	.												T	3	4	69	108317487	108317487	A	T	1	0	0	0	0	1	0	0	0	1261	295	11	4		4	ATM	11	108317487	Missense_Mutation	SNP	A	C3N-01023_TP	18607034	108317487	26769135	105	22099											
ARHGAP20	0	.	GRCh38	chr11	110579819	110579819	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaccagtttttcaaactggCcacaccatttctcaaccatg	11	11	6	13	0	2	0	2	0	1	0	3	1	2	1	4	2	2	1	4	2	2	3	rs776441588		C3N-01023_TP	C3N-01023_NB	C	C																c.3127G>T	p.Ala1043Ser	p.A1043S	ENST00000260283	16/16	183	139	44	115	114	1	strelka-varscan-mutect	ARHGAP20,missense_variant,p.Ala1043Ser,ENST00000260283,NM_020809.3;ARHGAP20,missense_variant,p.Ala1020Ser,ENST00000524756,NM_001258415.1;ARHGAP20,missense_variant,p.Ala1017Ser,ENST00000533353,NM_001258416.1;ARHGAP20,missense_variant,p.Ala1007Ser,ENST00000527598,NM_001258418.1;ARHGAP20,missense_variant,p.Ala1007Ser,ENST00000528829,NM_001258417.1;ARHGAP20,missense_variant,p.Ala586Ser,ENST00000529591,;	A	ENST00000260283	Transcript	missense_variant	3412/6189	3127/3576	1043/1191	A/S	Gcc/Tcc	rs776441588	1		-1	ARHGAP20	HGNC	HGNC:18357	protein_coding	YES	CCDS31673.1	ENSP00000260283	Q9P2F6		UPI000013D0BA	NM_020809.3	tolerated(0.32)		16/16		hmmpanther:PTHR23179,hmmpanther:PTHR23179:SF28																	MODERATE	1	SNV	1			1										PASS		rs776441588	.												A	3	1	69	110579819	110579819	C	A	1	0	0	0	0	1	0	0	0	994	739	26	2		2	ARHGAP20	11	110579819	Missense_Mutation	SNP	C	C3N-01023_TP	2262332	110579819	24506803	106	22100											
C11orf63	0	.	GRCh38	chr11	122904087	122904087	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacccttcccaggagacGtcaatggaactctccggggg	8	8	11	14	2	3	1	1	0	2	1	5	3	4	2	3	4	2	0	3	4	3	2			C3N-01023_TP	C3N-01023_NB	G	G																c.507G>A	p.=	p.T169T	ENST00000227349	3/9	347	299	48	257	257	0	strelka-varscan-mutect	C11orf63,synonymous_variant,p.=,ENST00000227349,NM_024806.3;C11orf63,synonymous_variant,p.=,ENST00000531316,;C11orf63,synonymous_variant,p.=,ENST00000307257,NM_199124.2;	A	ENST00000227349	Transcript	synonymous_variant	1041/3147	507/2337	169/778	T	acG/acA	COSM924127	1		1	C11orf63	HGNC	HGNC:26288	protein_coding	YES	CCDS8438.1	ENSP00000227349	Q6NUN7		UPI00001FA5AB	NM_024806.3			3/9		hmmpanther:PTHR14726,hmmpanther:PTHR14726:SF1											1						LOW	1	SNV	1		1	1										PASS		rs992412552	.												A	2	1	69	122904087	122904087	G	A	1	0	0	0	0	0	0	0	1	1790	1132	40	1		1	C11orf63	11	122904087	Silent	SNP	G	C3N-01023_TP	12324268	122904087	12182535	107	22101											
GRAMD1B	0	.	GRCh38	chr11	123608765	123608765	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcttcaccaactcgccCttccagcgggatttcatgga	7	11	7	16	2	3	0	2	0	1	0	6	2	5	2	4	2	2	0	4	2	1	3	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.1212C>A	p.=	p.P404P	ENST00000456860	12/21	135	122	13	98	98	0	strelka-varscan-mutect	GRAMD1B,synonymous_variant,p.=,ENST00000529750,NM_020716.2;GRAMD1B,synonymous_variant,p.=,ENST00000529432,NM_001286564.1;GRAMD1B,synonymous_variant,p.=,ENST00000638157,;GRAMD1B,synonymous_variant,p.=,ENST00000635736,;GRAMD1B,synonymous_variant,p.=,ENST00000456860,NM_001286563.1;GRAMD1B,synonymous_variant,p.=,ENST00000638086,;GRAMD1B,synonymous_variant,p.=,ENST00000322282,;GRAMD1B,synonymous_variant,p.=,ENST00000450171,;GRAMD1B,synonymous_variant,p.=,ENST00000534764,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;GRAMD1B,upstream_gene_variant,,ENST00000525945,;	A	ENST00000456860	Transcript	synonymous_variant	1725/2805	1212/2238	404/745	P	ccC/ccA		1		1	GRAMD1B	HGNC	HGNC:29214	protein_coding	YES	CCDS66253.1	ENSP00000402457	Q3KR37		UPI000023753E	NM_001286563.1			12/21		hmmpanther:PTHR23319:SF3,hmmpanther:PTHR23319,Pfam_domain:PF16016																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	69	123608765	123608765	C	A	1	0	0	0	0	0	0	0	1	6627	668	24	2		2	GRAMD1B	11	123608765	Silent	SNP	C	C3N-01023_TP	704678	123608765	11477857	108	22102											
NTM	0	.	GRCh38	chr11	132146495	132146495	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaccacccaaagacctctagGgtccacctcattgtgcaagg	12	7	8	14	0	2	1	1	0	1	1	3	1	3	1	5	2	2	1	5	2	4	2			C3N-01023_TP	C3N-01023_NB	G	G																c.381G>A	p.=	p.R127R	ENST00000425719	2/8	166	149	17	127	127	0	strelka-varscan-mutect	NTM,synonymous_variant,p.=,ENST00000374786,NM_016522.2;NTM,synonymous_variant,p.=,ENST00000374791,NM_001048209.1;NTM,synonymous_variant,p.=,ENST00000425719,NM_001144058.1;NTM,synonymous_variant,p.=,ENST00000374784,NM_001144059.1;NTM,synonymous_variant,p.=,ENST00000550167,;NTM,5_prime_UTR_variant,,ENST00000427481,;NTM,5_prime_UTR_variant,,ENST00000539799,;NTM,non_coding_transcript_exon_variant,,ENST00000467255,;NTM,intron_variant,,ENST00000498764,;NTM,non_coding_transcript_exon_variant,,ENST00000479431,;	A	ENST00000425719	Transcript	synonymous_variant	401/1607	381/1068	127/355	R	agG/agA	COSM5372080,COSM5372081,COSM5372082,COSM5372083	1		1	NTM	HGNC	HGNC:17941	protein_coding	YES	CCDS44777.1	ENSP00000396722	Q9P121		UPI00001A58B9	NM_001144058.1			2/8		hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF116,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1,1,1						LOW	1	SNV	1		1,1,1,1	1										PASS		.	.												A	2	1	69	132146495	132146495	G	A	1	0	0	0	0	0	0	0	1	10763	1223	43	3		3	NTM	11	132146495	Silent	SNP	G	C3N-01023_TP	8537730	132146495	2940127	109	22103											
B3GAT1	0	.	GRCh38	chr11	134383811	134383811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgctgcatggtgccccgcgGgatgcgtgggtcgcgggcgt	2	7	20	12	7	0	0	0	0	0	0	1	1	0	1	2	4	3	2	2	4	0	0			C3N-01023_TP	C3N-01023_NB	G	G																c.490C>A	p.Pro164Thr	p.P164T	ENST00000524765	3/6	197	179	18	144	144	0	strelka-varscan-mutect	B3GAT1,missense_variant,p.Pro164Thr,ENST00000524765,;B3GAT1,missense_variant,p.Pro164Thr,ENST00000312527,NM_054025.2;B3GAT1,missense_variant,p.Pro164Thr,ENST00000392580,NM_018644.3;B3GAT1,downstream_gene_variant,,ENST00000531510,;B3GAT1,non_coding_transcript_exon_variant,,ENST00000531778,;	T	ENST00000524765	Transcript	missense_variant	5035/5737	490/1005	164/334	P/T	Ccg/Acg	COSM3445561,COSM3445562	1		-1	B3GAT1	HGNC	HGNC:921	protein_coding	YES	CCDS8500.1	ENSP00000433847	Q9P2W7		UPI0000073281		deleterious(0)		3/6		Gene3D:3.90.550.10,Pfam_domain:PF03360,hmmpanther:PTHR10896,hmmpanther:PTHR10896:SF21,Superfamily_domains:SSF53448											1,1						MODERATE	1	SNV	2		1,1	1										PASS		rs1229449843	.												T	3	4	69	134383811	134383811	G	T	1	0	0	0	0	1	0	0	0	1409	1232	43	2		2	B3GAT1	11	134383811	Missense_Mutation	SNP	G	C3N-01023_TP	2237316	134383811	702811	110	22104											
CLSTN3	0	.	GRCh38	chr12	7142970	7142970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcatcgagtgcctctatGcatgtcgggaggggctggac	7	9	16	9	2	2	0	1	0	1	0	4	3	2	2	1	5	2	2	1	5	1	1	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.1642G>T	p.Ala548Ser	p.A548S	ENST00000266546	11/18	222	203	19	154	154	0	varscan-mutect	CLSTN3,missense_variant,p.Ala560Ser,ENST00000537408,;CLSTN3,missense_variant,p.Ala548Ser,ENST00000266546,NM_014718.3;CLSTN3,non_coding_transcript_exon_variant,,ENST00000544584,;CLSTN3,downstream_gene_variant,,ENST00000535668,;CLSTN3,upstream_gene_variant,,ENST00000541770,;	T	ENST00000266546	Transcript	missense_variant	2092/4185	1642/2871	548/956	A/S	Gca/Tca		1		1	CLSTN3	HGNC	HGNC:18371	protein_coding	YES	CCDS8575.1	ENSP00000266546	Q9BQT9		UPI0000049E7C	NM_014718.3	tolerated(0.07)		11/18		hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	7142970	7142970	G	T	1	0	0	0	0	1	0	0	0	3335	1319	46	2		2	CLSTN3	12	7142970	Missense_Mutation	SNP	G	C3N-01023_TP		7142970	126132339	111	22105											
PTPRO	0	.	GRCh38	chr12	15516927	15516927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaccacctactatgaaataGcagcaactgtttccttaact	13	11	6	11	0	0	1	0	1	0	0	1	2	1	2	3	1	5	3	3	1	6	5			C3N-01023_TP	C3N-01023_NB	G	G																c.1750G>A	p.Ala584Thr	p.A584T	ENST00000281171	9/27	314	269	45	245	244	1	strelka-varscan-mutect	PTPRO,missense_variant,p.Ala584Thr,ENST00000281171,NM_030667.2;PTPRO,missense_variant,p.Ala584Thr,ENST00000348962,NM_002848.3;PTPRO,missense_variant,p.Ala584Thr,ENST00000543886,;	A	ENST00000281171	Transcript	missense_variant	2080/5301	1750/3651	584/1216	A/T	Gca/Aca	COSM5273172	1		1	PTPRO	HGNC	HGNC:9678	protein_coding	YES	CCDS8675.1	ENSP00000281171	Q16827		UPI000013DC62	NM_030667.2	tolerated(0.08)		9/27		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF315,SMART_domains:SM00060,Superfamily_domains:SSF49265											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	69	15516927	15516927	G	A	1	0	0	0	0	1	0	0	0	12963	971	34	3		3	PTPRO	12	15516927	Missense_Mutation	SNP	G	C3N-01023_TP	8373957	15516927	117758382	112	22106											
BCAT1	0	.	GRCh38	chr12	24881316	24881316	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataccggcagagttgccctCacagcagagcgatacattct	11	8	9	13	2	2	2	1	0	1	2	2	3	2	2	2	1	5	3	2	1	2	4	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.411G>A	p.=	p.V137V	ENST00000539282	4/11	205	151	54	145	145	0	strelka-varscan-mutect	BCAT1,synonymous_variant,p.=,ENST00000261192,NM_005504.6;BCAT1,synonymous_variant,p.=,ENST00000538118,NM_001178094.1;BCAT1,synonymous_variant,p.=,ENST00000539282,NM_001178093.1;BCAT1,synonymous_variant,p.=,ENST00000546285,;BCAT1,intron_variant,,ENST00000342945,NM_001178092.1;BCAT1,intron_variant,,ENST00000539780,NM_001178091.1;BCAT1,non_coding_transcript_exon_variant,,ENST00000544418,;BCAT1,synonymous_variant,p.=,ENST00000612790,;	T	ENST00000539282	Transcript	synonymous_variant	498/1811	411/1197	137/398	V	gtG/gtA		1		-1	BCAT1	HGNC	HGNC:976	protein_coding	YES	CCDS53761.1	ENSP00000443459	P54687		UPI0001D27F89	NM_001178093.1			4/11		hmmpanther:PTHR11825,hmmpanther:PTHR11825:SF51,Gene3D:3.30.470.10,TIGRFAM_domain:TIGR01123,Pfam_domain:PF01063,PIRSF_domain:PIRSF006468,Superfamily_domains:SSF56752																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	69	24881316	24881316	C	T	1	0	0	0	0	0	0	0	1	1501	813	29	3		3	BCAT1	12	24881316	Silent	SNP	C	C3N-01023_TP	9364389	24881316	108393993	113	22107											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3N-01023_TP	C3N-01023_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	366	273	93	286	284	2	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												A	3	1	69	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	C3N-01023_TP	364035	25245351	108029958	114	22108											
KIAA1551	0	.	GRCh38	chr12	31981611	31981611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacctccaaagctataccGttactcaccacaaagctttt	13	10	3	15	1	1	0	1	0	0	0	2	0	2	0	5	0	4	3	5	0	5	5	rs139948313		C3N-01023_TP	C3N-01023_NB	G	G																c.656G>C	p.Arg219Pro	p.R219P	ENST00000312561	4/6	398	319	79	296	296	0	strelka-varscan-mutect	KIAA1551,missense_variant,p.Arg219Pro,ENST00000312561,NM_018169.3;KIAA1551,missense_variant,p.Arg219Pro,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,intron_variant,,ENST00000541981,;	C	ENST00000312561	Transcript	missense_variant	1070/6230	656/5244	219/1747	R/P	cGt/cCt	rs139948313	1		1	KIAA1551	HGNC	HGNC:25559	protein_coding	YES	CCDS8725.2	ENSP00000310338	Q9HCM1		UPI0000577B2F	NM_018169.3	tolerated(0.28)		4/6		hmmpanther:PTHR21604																	MODERATE	1	SNV	1			1										PASS		rs139948313	.												C	3	2	69	31981611	31981611	G	C	1	0	0	0	0	1	0	0	0	8122	1145	40	4		4	KIAA1551	12	31981611	Missense_Mutation	SNP	G	C3N-01023_TP	6736260	31981611	101293698	115	22109											
PKP2	0	.	GRCh38	chr12	32843223	32843223	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactcctgacctcgtgatcCgcccgccttggcctcccaaa	7	8	8	18	3	0	2	0	2	0	0	4	3	3	2	7	1	1	0	7	1	2	1	rs369518480		C3N-01023_TP	C3N-01023_NB	C	C																c.1469G>T	p.Arg490Leu	p.R490L	ENST00000070846	6/14	97	69	28	73	73	0	strelka-varscan-mutect	PKP2,missense_variant,p.Arg490Leu,ENST00000070846,NM_004572.3;PKP2,intron_variant,,ENST00000340811,NM_001005242.2;	A	ENST00000070846	Transcript	missense_variant	1494/4241	1469/2646	490/881	R/L	cGg/cTg	rs369518480	1		-1	PKP2	HGNC	HGNC:9024	protein_coding	YES	CCDS8731.1	ENSP00000070846	Q99959		UPI000013C576	NM_004572.3	tolerated_low_confidence(0.65)		6/14																			MODERATE	1	SNV	1			1										PASS		rs369518480	.												A	3	1	69	32843223	32843223	C	A	1	0	0	0	0	1	0	0	0	12081	652	23	1		1	PKP2	12	32843223	Missense_Mutation	SNP	C	C3N-01023_TP	861612	32843223	100432086	116	22110											
KRT6B	0	.	GRCh38	chr12	52451635	52451635	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggggtcaatttgcaggttGaggggagtcaggagactctg	8	9	18	6	1	3	2	2	1	1	1	3	4	3	3	0	6	1	2	0	6	1	2			C3N-01023_TP	C3N-01023_NB	G	G																c.444C>A	p.=	p.L148L	ENST00000252252	1/9	357	316	41	234	234	0	varscan-mutect	KRT6B,synonymous_variant,p.=,ENST00000252252,NM_005555.3;	T	ENST00000252252	Transcript	synonymous_variant	492/2282	444/1695	148/564	L	ctC/ctA	COSM403660	1		-1	KRT6B	HGNC	HGNC:6444	protein_coding	YES	CCDS8828.1	ENSP00000252252	P04259		UPI000013CD50	NM_005555.3			1/9		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Pfam_domain:PF16208											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	69	52451635	52451635	G	T	1	0	0	0	0	0	0	0	1	8363	1277	45	2		2	KRT6B	12	52451635	Silent	SNP	G	C3N-01023_TP	19608412	52451635	80823674	117	22111											
DPY19L2	0	.	GRCh38	chr12	63560604	63560604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggacgctacataagggagGgttagctgcattggaagggt	11	8	16	6	1	0	0	0	0	0	0	0	3	0	3	0	5	3	4	0	5	4	4	rs199856082		C3N-01023_TP	C3N-01023_NB	G	G																c.2185C>A	p.Pro729Thr	p.P729T	ENST00000324472	22/22	371	310	61	316	315	1	strelka-varscan-mutect	DPY19L2,missense_variant,p.Pro729Thr,ENST00000324472,NM_173812.4;DPY19L2,3_prime_UTR_variant,,ENST00000439061,;DPY19L2,non_coding_transcript_exon_variant,,ENST00000413230,;DPY19L2,non_coding_transcript_exon_variant,,ENST00000541911,;	T	ENST00000324472	Transcript	missense_variant	2369/4060	2185/2277	729/758	P/T	Cct/Act	rs199856082	1		-1	DPY19L2	HGNC	HGNC:19414	protein_coding	YES	CCDS31851.1	ENSP00000315988	Q6NUT2		UPI000006EC0C	NM_173812.4	tolerated(0.58)		22/22		Pfam_domain:PF10034,hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF6																	MODERATE	1	SNV	1			1										PASS		rs199856082	.												T	3	4	69	63560604	63560604	G	T	1	0	0	0	0	1	0	0	0	4556	1232	43	2		2	DPY19L2	12	63560604	Missense_Mutation	SNP	G	C3N-01023_TP	11108969	63560604	69714705	118	22112											
POC1B	0	.	GRCh38	chr12	89492006	89492006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgatacatgctccataCttttatggatttgtcttcag	8	16	8	9	1	2	0	1	0	1	0	3	2	3	1	1	2	3	1	1	2	3	6	rs749740287		C3N-01023_TP	C3N-01023_NB	C	C																c.382G>T	p.Val128Leu	p.V128L	ENST00000313546	4/12	183	152	31	111	111	0	strelka-varscan-mutect	POC1B,missense_variant,p.Val128Leu,ENST00000313546,NM_172240.2;POC1B,missense_variant,p.Val86Leu,ENST00000549035,NM_001199777.1;POC1B,5_prime_UTR_variant,,ENST00000393179,;POC1B,5_prime_UTR_variant,,ENST00000549504,;POC1B,3_prime_UTR_variant,,ENST00000547496,;POC1B,3_prime_UTR_variant,,ENST00000548715,;POC1B,3_prime_UTR_variant,,ENST00000547274,;POC1B,non_coding_transcript_exon_variant,,ENST00000539190,;POC1B,non_coding_transcript_exon_variant,,ENST00000552563,;POC1B,downstream_gene_variant,,ENST00000546830,;	A	ENST00000313546	Transcript	missense_variant	511/3001	382/1437	128/478	V/L	Gta/Tta	rs749740287	1		-1	POC1B	HGNC	HGNC:30836	protein_coding	YES	CCDS31869.1	ENSP00000323302	Q8TC44	A0MNP0	UPI000006E6B9	NM_172240.2	tolerated(0.34)		4/12		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00320																	MODERATE	1	SNV	1			1										PASS		rs749740287	.												A	3	1	69	89492006	89492006	C	A	1	0	0	0	0	1	0	0	0	12285	565	20	2		2	POC1B	12	89492006	Missense_Mutation	SNP	C	C3N-01023_TP	25931402	89492006	43783303	119	22113											
KSR2	0	.	GRCh38	chr12	117667571	117667571	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggagcgctcggacagcagCggggagcgctgctgagaggg	8	3	21	9	4	0	1	0	1	0	1	1	5	0	4	0	5	5	4	0	5	0	0	rs370976488		C3N-01023_TP	C3N-01023_NB	C	C																c.987G>T	p.=	p.P329P	ENST00000425217	5/20	184	143	41	115	115	0	strelka-varscan-mutect	KSR2,synonymous_variant,p.=,ENST00000339824,;KSR2,synonymous_variant,p.=,ENST00000425217,NM_173598.4;KSR2,non_coding_transcript_exon_variant,,ENST00000545002,;	A	ENST00000425217	Transcript	synonymous_variant	1042/17008	987/2766	329/921	P	ccG/ccT	rs370976488	1		-1	KSR2	HGNC	HGNC:18610	protein_coding	YES	CCDS61250.1	ENSP00000389715		E9PB13	UPI000164FA1C	NM_173598.4			5/20		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs370976488	.												A	2	1	69	117667571	117667571	C	A	1	0	0	0	0	0	0	0	1	8481	755	27	1		1	KSR2	12	117667571	Silent	SNP	C	C3N-01023_TP	28175565	117667571	15607738	120	22114											
ZNF84	0	.	GRCh38	chr12	133048004	133048004	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcacccaaaaggagtGgcagctactggatccctctc	10	8	10	13	0	2	0	1	0	1	0	4	3	3	3	2	4	2	2	2	4	3	2	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.65G>C	p.Trp22Ser	p.W22S	ENST00000327668	3/5	204	148	56	151	151	0	strelka-varscan-mutect	ZNF84,missense_variant,p.Trp22Ser,ENST00000327668,NM_001289972.1;ZNF84,missense_variant,p.Trp22Ser,ENST00000392319,NM_001289971.1,NM_001127372.2,NM_003428.5;ZNF84,missense_variant,p.Trp22Ser,ENST00000543758,;ZNF84,missense_variant,p.Trp22Ser,ENST00000539354,;ZNF84,missense_variant,p.Trp22Ser,ENST00000540031,;ZNF84,missense_variant,p.Trp22Ser,ENST00000535439,;ZNF84,missense_variant,p.Trp22Ser,ENST00000543310,;ZNF84,missense_variant,p.Trp22Ser,ENST00000438628,;ZNF84,missense_variant,p.Trp22Ser,ENST00000536123,;ZNF84,missense_variant,p.Trp22Ser,ENST00000542874,;ZNF84,non_coding_transcript_exon_variant,,ENST00000543124,;ZNF84,non_coding_transcript_exon_variant,,ENST00000542358,;ZNF84,non_coding_transcript_exon_variant,,ENST00000539686,;ZNF84,non_coding_transcript_exon_variant,,ENST00000539098,;ZNF84,non_coding_transcript_exon_variant,,ENST00000441040,;	C	ENST00000327668	Transcript	missense_variant	645/7162	65/2217	22/738	W/S	tGg/tCg		1		1	ZNF84	HGNC	HGNC:13159	protein_coding	YES	CCDS31940.1	ENSP00000331465	P51523		UPI000016AACC	NM_001289972.1	deleterious(0)		3/5		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF146,SMART_domains:SM00349																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	69	133048004	133048004	G	C	1	0	0	0	0	1	0	0	0	18775	1357	47	4		4	ZNF84	12	133048004	Missense_Mutation	SNP	G	C3N-01023_TP	15380433	133048004	227305	121	22115											
MRPS31	0	.	GRCh38	chr13	40729417	40729417	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagaatatcctttttttcAttaaaataatttctaaacca	15	19	1	6	0	2	1	1	0	1	1	3	1	3	1	2	0	1	0	2	0	8	10	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.1143T>A	p.Asn381Lys	p.N381K	ENST00000323563	7/7	97	90	7	136	134	2	varscan-mutect	MRPS31,missense_variant,p.Asn381Lys,ENST00000323563,NM_005830.3;MIR320D1,upstream_gene_variant,,ENST00000390157,;Metazoa_SRP,upstream_gene_variant,,ENST00000614020,;MRPS31,non_coding_transcript_exon_variant,,ENST00000498078,;MRPS31,non_coding_transcript_exon_variant,,ENST00000461675,;	T	ENST00000323563	Transcript	missense_variant	1180/1462	1143/1188	381/395	N/K	aaT/aaA		1		-1	MRPS31	HGNC	HGNC:16632	protein_coding	YES	CCDS9372.1	ENSP00000315397	Q92665		UPI000013D1D3	NM_005830.3	tolerated(0.4)		7/7		hmmpanther:PTHR13231,Pfam_domain:PF15433																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	40729417	40729417	A	T	1	0	0	0	0	1	0	0	0	9818	214	8	4		4	MRPS31	13	40729417	Missense_Mutation	SNP	A	C3N-01023_TP		40729417	73634911	122	22116											
ALG11	0	.	GRCh38	chr13	52019100	52019100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcaatgctggtggaggaGgagaaagagttttatggtgt	11	11	16	3	0	0	2	0	0	0	2	0	5	0	4	0	5	2	3	0	5	3	2	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.232G>A	p.Gly78Arg	p.G78R	ENST00000521508	2/4	282	222	60	180	180	0	strelka-varscan-mutect	ALG11,missense_variant,p.Gly78Arg,ENST00000521508,NM_001004127.2;ALG11,intron_variant,,ENST00000523764,;ALG11,downstream_gene_variant,,ENST00000616513,;ALG11,upstream_gene_variant,,ENST00000519151,;	A	ENST00000521508	Transcript	missense_variant	237/2558	232/1479	78/492	G/R	Gga/Aga		1		1	ALG11	HGNC	HGNC:32456	protein_coding	YES	CCDS31977.1	ENSP00000430236	Q2TAA5		UPI000044C60E	NM_001004127.2	deleterious(0)		2/4		hmmpanther:PTHR12526,hmmpanther:PTHR12526:SF315,Pfam_domain:PF15924,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	52019100	52019100	G	A	1	0	0	0	0	1	0	0	0	613	1001	35	3		3	ALG11	13	52019100	Missense_Mutation	SNP	G	C3N-01023_TP	11289683	52019100	62345228	123	22117											
KCTD12	0	.	GRCh38	chr13	76885580	76885580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgagcagcgggcccgccGcgcccccggacggactgcgg	4	2	18	17	8	0	1	0	1	0	0	0	3	0	3	4	4	3	1	4	4	0	0	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.569C>A	p.Ala190Glu	p.A190E	ENST00000377474	1/1	129	109	20	95	95	0	strelka-mutect	KCTD12,missense_variant,p.Ala190Glu,ENST00000377474,NM_138444.3;AC000403.4,upstream_gene_variant,,ENST00000613696,;	T	ENST00000377474	Transcript	missense_variant	811/6225	569/978	190/325	A/E	gCg/gAg		1		-1	KCTD12	HGNC	HGNC:14678	protein_coding	YES	CCDS9455.1	ENSP00000366694	Q96CX2	A0A140VJM4	UPI0000073DDF	NM_138444.3	tolerated(0.17)		1/1		hmmpanther:PTHR14499:SF29,hmmpanther:PTHR14499																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	69	76885580	76885580	G	T	1	0	0	0	0	1	0	0	0	8016	1087	38	1		1	KCTD12	13	76885580	Missense_Mutation	SNP	G	C3N-01023_TP	24866480	76885580	37478748	124	22118											
GPC5	0	.	GRCh38	chr13	92144881	92144881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgggaacttcttcagctgGgcagtggtggaggcatggtt	7	11	17	6	0	2	0	1	0	1	0	2	2	2	2	0	6	2	4	0	6	1	3	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.1453G>T	p.Gly485Cys	p.G485C	ENST00000377067	7/8	106	89	17	119	118	1	strelka-varscan-mutect	GPC5,missense_variant,p.Gly485Cys,ENST00000377067,NM_004466.5;	T	ENST00000377067	Transcript	missense_variant	1893/2957	1453/1719	485/572	G/C	Ggc/Tgc		1		1	GPC5	HGNC	HGNC:4453	protein_coding	YES	CCDS9468.1	ENSP00000366267	P78333		UPI0000001C85	NM_004466.5	deleterious(0)		7/8		hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF12,Pfam_domain:PF01153																	MODERATE	1	SNV	1			1										PASS		rs951460621	.												T	3	4	69	92144881	92144881	G	T	1	0	0	0	0	1	0	0	0	6503	1232	43	2		2	GPC5	13	92144881	Missense_Mutation	SNP	G	C3N-01023_TP	15259301	92144881	22219447	125	22119											
GPC6	0	.	GRCh38	chr13	93227570	93227570	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccgccaggcgtacggTgccaagggattcagcctggc	7	6	16	12	3	1	0	1	0	0	0	2	2	2	1	4	5	3	1	4	5	2	2	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.114T>G	p.=	p.G38G	ENST00000377047	1/9	214	198	16	138	138	0	strelka-varscan-mutect	GPC6,synonymous_variant,p.=,ENST00000377047,NM_005708.3;RP11-632L2.2,upstream_gene_variant,,ENST00000610286,;	G	ENST00000377047	Transcript	synonymous_variant	729/6467	114/1668	38/555	G	ggT/ggG		1		1	GPC6	HGNC	HGNC:4454	protein_coding	YES	CCDS9469.1	ENSP00000366246	Q9Y625		UPI0000032F5B	NM_005708.3			1/9		Pfam_domain:PF01153,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF31																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	69	93227570	93227570	T	G	1	0	0	0	0	0	0	0	1	6504	1683	59	5		5	GPC6	13	93227570	Silent	SNP	T	C3N-01023_TP	1082689	93227570	21136758	126	22120											
OR4K1	0	.	GRCh38	chr14	19935899	19935899	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtcagtctaactttgccaCccccaagatgcttgtagact	9	12	7	13	0	2	2	1	0	1	2	2	2	2	2	3	0	3	2	3	0	3	4	rs777615482		C3N-01023_TP	C3N-01023_NB	C	C																c.233C>A	p.Thr78Asn	p.T78N	ENST00000285600	1/1	374	350	24	289	288	1	strelka-varscan-mutect	OR4K1,missense_variant,p.Thr78Asn,ENST00000285600,NM_001004063.2;	A	ENST00000285600	Transcript	missense_variant	292/1076	233/936	78/311	T/N	aCc/aAc	rs777615482	1		1	OR4K1	HGNC	HGNC:14726	protein_coding	YES	CCDS32025.1	ENSP00000285600	Q8NGD4		UPI0000041B4A	NM_001004063.2	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF182,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs777615482	.												A	3	1	69	19935899	19935899	C	A	1	0	0	0	0	1	0	0	0	11144	507	18	2		2	OR4K1	14	19935899	Missense_Mutation	SNP	C	C3N-01023_TP		19935899	87107819	127	22121											
JPH4	0	.	GRCh38	chr14	23571185	23571185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttgcatcccagcctcatCctcagcctcatagccagcta	8	9	5	19	0	3	0	3	0	0	0	5	0	5	0	6	0	5	2	6	0	2	3	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.1546G>T	p.Asp516Tyr	p.D516Y	ENST00000397118	6/7	235	211	24	130	130	0	strelka-varscan-mutect	JPH4,missense_variant,p.Asp516Tyr,ENST00000397118,NM_032452.2;JPH4,missense_variant,p.Asp516Tyr,ENST00000356300,NM_001146028.1;JPH4,missense_variant,p.Asp517Tyr,ENST00000622501,;JPH4,missense_variant,p.Asp181Tyr,ENST00000544177,;AP1G2,upstream_gene_variant,,ENST00000308724,NM_001282475.1;AP1G2,upstream_gene_variant,,ENST00000397120,NM_001282474.1,NM_003917.4;AP1G2,upstream_gene_variant,,ENST00000557189,;AP1G2,upstream_gene_variant,,ENST00000556843,;RP11-66N24.3,downstream_gene_variant,,ENST00000555968,;AP1G2,upstream_gene_variant,,ENST00000556277,;AP1G2,upstream_gene_variant,,ENST00000460049,;AP1G2,upstream_gene_variant,,ENST00000465445,;AP1G2,upstream_gene_variant,,ENST00000535852,;JPH4,downstream_gene_variant,,ENST00000553505,;AP1G2,upstream_gene_variant,,ENST00000556743,;AP1G2,upstream_gene_variant,,ENST00000553629,;AP1G2,upstream_gene_variant,,ENST00000557619,;AP1G2,upstream_gene_variant,,ENST00000555896,;AP1G2,upstream_gene_variant,,ENST00000554069,;AP1G2,upstream_gene_variant,,ENST00000556943,;AP1G2,upstream_gene_variant,,ENST00000557482,;AP1G2,upstream_gene_variant,,ENST00000553756,;AP1G2,upstream_gene_variant,,ENST00000554312,;AP1G2,upstream_gene_variant,,ENST00000553685,;AP1G2,upstream_gene_variant,,ENST00000554816,;	A	ENST00000397118	Transcript	missense_variant	2449/4386	1546/1887	516/628	D/Y	Gat/Tat		1		-1	JPH4	HGNC	HGNC:20156	protein_coding	YES	CCDS9603.1	ENSP00000380307	Q96JJ6		UPI00001C1F68	NM_032452.2	deleterious(0.01)		6/7		hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF14,PIRSF_domain:PIRSF037387																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	23571185	23571185	C	A	1	0	0	0	0	1	0	0	0	7875	855	30	2		2	JPH4	14	23571185	Missense_Mutation	SNP	C	C3N-01023_TP	3635286	23571185	83472533	128	22122											
KLHDC1	0	.	GRCh38	chr14	49728947	49728947	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagttccaccacagccaCgagccgcgcatacatgtgca	10	6	11	14	3	0	0	0	0	0	0	1	2	1	1	4	1	4	3	4	1	1	2	rs767154456		C3N-01023_TP	C3N-01023_NB	C	C																c.589C>T	p.Arg197Ter	p.R197*	ENST00000359332	7/13	316	284	32	228	227	1	strelka-varscan-mutect	KLHDC1,stop_gained,p.Arg197Ter,ENST00000359332,NM_172193.2;KLHDC1,stop_gained,p.Arg68Ter,ENST00000557128,;KLHDC1,synonymous_variant,p.=,ENST00000553274,;KLHDC1,non_coding_transcript_exon_variant,,ENST00000554512,;KLHDC1,3_prime_UTR_variant,,ENST00000555704,;KLHDC1,3_prime_UTR_variant,,ENST00000556392,;	T	ENST00000359332	Transcript	stop_gained	679/2691	589/1221	197/406	R/*	Cga/Tga	rs767154456	1		1	KLHDC1	HGNC	HGNC:19836	protein_coding	YES	CCDS9692.1	ENSP00000352282	Q8N7A1		UPI0000072D4D	NM_172193.2			7/13		hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF317,Gene3D:1zgkA00,Pfam_domain:PF13418,Superfamily_domains:0052715																	HIGH	1	SNV	1			1										PASS		rs767154456	.												T	4	4	69	49728947	49728947	C	T	1	0	0	0	0	0	1	0	0	8219	528	19	1		1	KLHDC1	14	49728947	Nonsense_Mutation	SNP	C	C3N-01023_TP	26157762	49728947	57314771	129	22123											
VRTN	0	.	GRCh38	chr14	74358326	74358326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcgtctgcgcagggctGcccgcaggcaggtgctgagt	6	6	18	11	3	1	2	0	1	1	1	1	2	1	2	1	4	3	5	1	4	0	0	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.1543G>A	p.Ala515Thr	p.A515T	ENST00000256362	2/2	77	56	21	69	69	0	strelka-varscan-mutect	VRTN,missense_variant,p.Ala515Thr,ENST00000256362,NM_018228.2;VRTN,downstream_gene_variant,,ENST00000557177,;	A	ENST00000256362	Transcript	missense_variant	1784/3466	1543/2109	515/702	A/T	Gcc/Acc		1		1	VRTN	HGNC	HGNC:20223	protein_coding	YES	CCDS9830.1	ENSP00000256362	Q9H8Y1		UPI00000737D5	NM_018228.2	deleterious(0)		2/2		hmmpanther:PTHR16081,hmmpanther:PTHR16081:SF0,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	74358326	74358326	G	A	1	0	0	0	0	1	0	0	0	17771	1319	46	3		3	VRTN	14	74358326	Missense_Mutation	SNP	G	C3N-01023_TP	24629379	74358326	32685392	130	22124											
SLC25A47	0	.	GRCh38	chr14	100329435	100329435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggccacccccatggaCgtgatcaagtcgagactgca	9	7	12	13	2	1	2	1	1	0	1	2	4	1	3	3	2	1	2	3	2	1	0	rs754918242		C3N-01023_TP	C3N-01023_NB	C	C																c.717C>A	p.Asp239Glu	p.D239E	ENST00000361529	6/6	180	114	66	141	141	0	strelka-varscan-mutect	SLC25A47,missense_variant,p.Asp239Glu,ENST00000361529,NM_207117.2;SLC25A47,missense_variant,p.Asp93Glu,ENST00000557052,;WARS,downstream_gene_variant,,ENST00000355338,NM_173701.1;WARS,downstream_gene_variant,,ENST00000392882,NM_004184.3;WARS,downstream_gene_variant,,ENST00000344102,NM_213646.1;WARS,downstream_gene_variant,,ENST00000358655,NM_213645.1;RP11-638I2.8,upstream_gene_variant,,ENST00000557226,;	A	ENST00000361529	Transcript	missense_variant	795/1738	717/927	239/308	D/E	gaC/gaA	rs754918242	1		1	SLC25A47	HGNC	HGNC:20115	protein_coding	YES	CCDS9959.1	ENSP00000354886	Q6Q0C1	A0A024R6H7	UPI000004ABFB	NM_207117.2	deleterious(0)		6/6		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF224,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588,Prints_domain:PR00926																	MODERATE	1	SNV	1			1										PASS		rs754918242	.												A	3	1	69	100329435	100329435	C	A	1	0	0	0	0	1	0	0	0	14777	535	19	1		1	SLC25A47	14	100329435	Missense_Mutation	SNP	C	C3N-01023_TP	25971109	100329435	6714283	131	22125											
POTEB3	0	.	GRCh38	chr15	21422128	21422128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattttccatgcctctggctGgctattttcactgactttaa	8	17	6	10	0	2	1	1	1	1	0	3	1	3	1	2	2	1	2	2	2	3	7	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.1189C>A	p.Gln397Lys	p.Q397K	ENST00000611217	7/11	228	210	18	178	178	0	varscan-mutect	POTEB3,missense_variant,p.Gln397Lys,ENST00000611217,NM_207355.3;POTEB3,intron_variant,,ENST00000624267,;POTEB3,downstream_gene_variant,,ENST00000612601,;	T	ENST00000611217	Transcript	missense_variant	1237/1813	1189/1746	397/581	Q/K	Cag/Aag		1		-1	POTEB3	HGNC	HGNC:51240	protein_coding	YES	CCDS73690.1	ENSP00000483103	A0JP26,Q6S5H4		UPI0000197FCA	NM_207355.3	tolerated(0.06)		7/11		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF38																	MODERATE	1	SNV	1			1										PASS		rs1227898734	.												T	3	4	69	21422128	21422128	G	T	1	0	0	0	0	1	0	0	0	12375	1357	47	2		2	POTEB3	15	21422128	Missense_Mutation	SNP	G	C3N-01023_TP		21422128	80569061	132	22126											
STARD9	0	.	GRCh38	chr15	42684463	42684463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctaacaaactaaagccaaGgcatgagccaaagatcttca	18	6	7	10	0	2	2	1	1	1	1	2	2	2	2	2	1	5	2	2	1	6	3	rs542925209		C3N-01023_TP	C3N-01023_NB	G	G																c.2885G>T	p.Arg962Met	p.R962M	ENST00000290607	23/33	134	110	24	104	104	0	strelka-varscan-mutect	STARD9,missense_variant,p.Arg962Met,ENST00000290607,NM_020759.2;STARD9,downstream_gene_variant,,ENST00000569419,;STARD9,downstream_gene_variant,,ENST00000562139,;	T	ENST00000290607	Transcript	missense_variant	2942/15567	2885/14103	962/4700	R/M	aGg/aTg	rs542925209	1		1	STARD9	HGNC	HGNC:19162	protein_coding	YES	CCDS53935.1	ENSP00000290607	Q9P2P6		UPI0001BE8155	NM_020759.2	deleterious(0.04)		23/33																			MODERATE	1	SNV	5			1										PASS		rs542925209	.												T	3	4	69	42684463	42684463	G	T	1	0	0	0	0	1	0	0	0	15639	1000	35	2		2	STARD9	15	42684463	Missense_Mutation	SNP	G	C3N-01023_TP	21262335	42684463	59306726	133	22127											
DUOX1	0	.	GRCh38	chr15	45152463	45152463	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccgctacgtgcccttcgAcgccgccgtggacttccatc	6	8	9	18	6	0	0	0	0	0	0	3	2	1	1	5	1	3	1	5	1	2	3	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.3371A>C	p.Asp1124Ala	p.D1124A	ENST00000321429	26/35	281	224	57	223	223	0	strelka-varscan-mutect	DUOX1,missense_variant,p.Asp1124Ala,ENST00000321429,NM_017434.4;DUOX1,missense_variant,p.Asp1124Ala,ENST00000389037,NM_175940.2;DUOX1,missense_variant,p.Asp770Ala,ENST00000561166,;CTD-2651B20.1,downstream_gene_variant,,ENST00000558039,;DUOX1,upstream_gene_variant,,ENST00000559221,;DUOX1,3_prime_UTR_variant,,ENST00000561220,;DUOX1,non_coding_transcript_exon_variant,,ENST00000557893,;DUOX1,non_coding_transcript_exon_variant,,ENST00000559716,;DUOX1,downstream_gene_variant,,ENST00000558446,;DUOX1,downstream_gene_variant,,ENST00000559219,;DUOX1,upstream_gene_variant,,ENST00000558744,;	C	ENST00000321429	Transcript	missense_variant	3778/5738	3371/4656	1124/1551	D/A	gAc/gCc		1		1	DUOX1	HGNC	HGNC:3062	protein_coding	YES	CCDS32221.1	ENSP00000317997	Q9NRD9		UPI000006E50E	NM_017434.4	deleterious(0.01)		26/35		hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF75,Pfam_domain:PF01794																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	69	45152463	45152463	A	C	1	0	0	0	0	1	0	0	0	4622	275	10	5		5	DUOX1	15	45152463	Missense_Mutation	SNP	A	C3N-01023_TP	2468000	45152463	56838726	134	22128											
ALDH1A2	0	.	GRCh38	chr15	57960770	57960770	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaactttaagacttacAtttctctcccatttccagac	11	14	3	13	0	2	2	1	0	1	2	5	2	4	2	2	0	3	1	2	0	3	5	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.1484T>A	p.Met495Lys	p.M495K	ENST00000249750	12/13	268	230	38	273	273	0	strelka-varscan-mutect	ALDH1A2,missense_variant,p.Met495Lys,ENST00000249750,NM_003888.3;ALDH1A2,missense_variant,p.Met474Lys,ENST00000537372,NM_001206897.1;ALDH1A2,missense_variant,p.Met457Lys,ENST00000347587,NM_170696.2;ALDH1A2,missense_variant,p.Met466Lys,ENST00000558231,;ALDH1A2,missense_variant,p.Met399Lys,ENST00000559517,NM_170697.2;ALDH1A2,splice_region_variant,,ENST00000560312,;ALDH1A2,splice_region_variant,,ENST00000430119,;	T	ENST00000249750	Transcript	missense_variant,splice_region_variant	2252/4098	1484/1557	495/518	M/K	aTg/aAg		1		-1	ALDH1A2	HGNC	HGNC:15472	protein_coding	YES	CCDS10163.1	ENSP00000249750	O94788		UPI00001678B4	NM_003888.3	tolerated(0.13)		12/13		hmmpanther:PTHR11699:SF102,hmmpanther:PTHR11699,Pfam_domain:PF00171,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	57960770	57960770	A	T	1	0	0	0	0	1	0	0	0	591	231	8	4		4	ALDH1A2	15	57960770	Missense_Mutation	SNP	A	C3N-01023_TP	12808307	57960770	44030419	135	22129											
PRSS22	0	.	GRCh38	chr16	2853161	2853161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacccccctgagcgcgccCgcggagctgcaccccttgca	5	4	10	22	4	0	1	0	1	0	0	0	2	0	2	7	1	4	3	7	1	0	1			C3N-01023_TP	C3N-01023_NB	C	C																c.886G>T	p.Gly296Trp	p.G296W	ENST00000161006	6/6	369	271	98	165	165	0	strelka-varscan-mutect	PRSS22,missense_variant,p.Gly296Trp,ENST00000161006,NM_022119.3;PRSS22,missense_variant,p.Gly186Trp,ENST00000571228,;LA16c-325D7.1,upstream_gene_variant,,ENST00000577140,;PRSS22,downstream_gene_variant,,ENST00000574768,;PRSS22,downstream_gene_variant,,ENST00000577177,;PRSS22,non_coding_transcript_exon_variant,,ENST00000575164,;PRSS22,downstream_gene_variant,,ENST00000576381,;PRSS22,downstream_gene_variant,,ENST00000570950,;PRSS22,downstream_gene_variant,,ENST00000572061,;	A	ENST00000161006	Transcript	missense_variant	952/1386	886/954	296/317	G/W	Ggg/Tgg	COSM5520818	1		-1	PRSS22	HGNC	HGNC:14368	protein_coding	YES	CCDS10481.1	ENSP00000161006	Q9GZN4		UPI0000126AFA	NM_022119.3	deleterious(0)		6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR24253:SF6,hmmpanther:PTHR24253											1						MODERATE	1	SNV	1		1	1										PASS		rs1303026628	.												A	3	1	69	2853161	2853161	C	A	1	0	0	0	0	1	0	0	0	12766	652	23	1		1	PRSS22	16	2853161	Missense_Mutation	SNP	C	C3N-01023_TP		2853161	87485184	136	22130											
XYLT1	0	.	GRCh38	chr16	17108936	17108936	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggggttgatgggcaggCtgaggacggggtttaggctc	5	8	22	6	2	0	2	0	2	0	0	1	3	0	3	0	9	0	5	0	9	1	3	rs769620977		C3N-01023_TP	C3N-01023_NB	C	C																c.2639G>T	p.Ser880Ile	p.S880I	ENST00000261381	12/12	69	52	17	40	40	0	strelka-varscan-mutect	XYLT1,missense_variant,p.Ser880Ile,ENST00000261381,NM_022166.3;	A	ENST00000261381	Transcript	missense_variant	2724/9891	2639/2880	880/959	S/I	aGc/aTc	rs769620977	1		-1	XYLT1	HGNC	HGNC:15516	protein_coding	YES	CCDS10569.1	ENSP00000261381	Q86Y38		UPI000000DCCE	NM_022166.3	deleterious(0.02)		12/12		hmmpanther:PTHR19297:SF91,hmmpanther:PTHR19297																	MODERATE	1	SNV	1			1										PASS		rs769620977	.												A	3	1	69	17108936	17108936	C	A	1	0	0	0	0	1	0	0	0	18022	797	28	2		2	XYLT1	16	17108936	Missense_Mutation	SNP	C	C3N-01023_TP	14255775	17108936	73229409	137	22131											
DNAH3	0	.	GRCh38	chr16	20963581	20963581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccaaatgctccatcaGgccatgcagtttgggtaagg	9	11	11	10	0	1	0	1	0	0	0	3	0	3	0	3	3	2	5	3	3	2	3	rs767592950		C3N-01023_TP	C3N-01023_NB	G	G																c.10303C>A	p.Leu3435Met	p.L3435M	ENST00000261383	53/62	343	254	89	273	272	1	strelka-varscan-mutect	DNAH3,missense_variant,p.Leu3435Met,ENST00000261383,NM_017539.2;	T	ENST00000261383	Transcript	missense_variant	10303/12394	10303/12351	3435/4116	L/M	Ctg/Atg	rs767592950	1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2	deleterious(0.01)		53/62		hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676,Pfam_domain:PF03028																	MODERATE	1	SNV	1			1										PASS		rs767592950	.												T	3	4	69	20963581	20963581	G	T	1	0	0	0	0	1	0	0	0	4418	991	35	2		2	DNAH3	16	20963581	Missense_Mutation	SNP	G	C3N-01023_TP	3854645	20963581	69374764	138	22132											
ITGAD	0	.	GRCh38	chr16	31423926	31423926	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctggatttcaccctgAagggcaatctcagtttcggc	9	10	12	10	1	2	1	2	1	1	0	4	3	2	3	1	4	1	3	1	4	2	2	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.3127A>T	p.Lys1043Ter	p.K1043*	ENST00000389202	27/30	240	217	23	167	167	0	strelka-varscan-mutect	ITGAD,stop_gained,p.Lys1043Ter,ENST00000389202,NM_001318185.1,NM_005353.2;COX6A2,downstream_gene_variant,,ENST00000287490,NM_005205.3;RP11-452L6.8,upstream_gene_variant,,ENST00000615068,;ITGAD,upstream_gene_variant,,ENST00000567308,;COX6A2,downstream_gene_variant,,ENST00000565462,;	T	ENST00000389202	Transcript	stop_gained	3176/3912	3127/3486	1043/1161	K/*	Aag/Tag		1		1	ITGAD	HGNC	HGNC:6146	protein_coding	YES	CCDS32438.1	ENSP00000373854	Q13349		UPI000004B27A	NM_001318185.1,NM_005353.2			27/30		hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,Superfamily_domains:SSF69179																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	69	31423926	31423926	A	T	1	0	0	0	0	0	1	0	0	7791	247	9	4		4	ITGAD	16	31423926	Nonsense_Mutation	SNP	A	C3N-01023_TP	10460345	31423926	58914419	139	22133											
CBLN1	0	.	GRCh38	chr16	49279466	49279466	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagccccccatcaagtttcCccgctccagcttgaggtatg	7	9	8	17	1	1	1	1	1	0	0	3	1	3	1	7	1	2	4	7	1	2	3	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.520G>T	p.Gly174Ter	p.G174*	ENST00000219197	3/3	367	316	51	292	290	2	strelka-varscan-mutect	CBLN1,stop_gained,p.Gly174Ter,ENST00000219197,NM_004352.3;CBLN1,stop_gained,p.Gly174Ter,ENST00000536749,;CBLN1,3_prime_UTR_variant,,ENST00000564786,;	A	ENST00000219197	Transcript	stop_gained	886/2435	520/582	174/193	G/*	Gga/Tga		1		-1	CBLN1	HGNC	HGNC:1543	protein_coding	YES	CCDS10736.1	ENSP00000219197	P23435		UPI0000127506	NM_004352.3			3/3		PROSITE_profiles:PS50871,hmmpanther:PTHR22923:SF5,hmmpanther:PTHR22923,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	69	49279466	49279466	C	A	1	0	0	0	0	0	1	0	0	2405	632	22	2		2	CBLN1	16	49279466	Nonsense_Mutation	SNP	C	C3N-01023_TP	17855540	49279466	41058879	140	22134											
ZNF423	0	.	GRCh38	chr16	49638045	49638045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgctggagtcgggtgtggcGctgctcatggaggccacgct	4	8	18	11	4	1	0	1	0	0	0	2	2	1	2	1	5	1	4	1	5	0	0	rs369662414		C3N-01023_TP	C3N-01023_NB	G	G																c.1107C>A	p.Ser369Arg	p.S369R	ENST00000561648	5/9	331	275	56	245	244	1	strelka-varscan-mutect	ZNF423,missense_variant,p.Ser369Arg,ENST00000561648,;ZNF423,missense_variant,p.Ser309Arg,ENST00000563137,;ZNF423,missense_variant,p.Ser369Arg,ENST00000262383,NM_015069.3;ZNF423,missense_variant,p.Ser309Arg,ENST00000562871,;ZNF423,missense_variant,p.Ser252Arg,ENST00000535559,;ZNF423,missense_variant,p.Ser309Arg,ENST00000562520,NM_001271620.1;ZNF423,missense_variant,p.Ser252Arg,ENST00000567169,;	T	ENST00000561648	Transcript	missense_variant	1408/7907	1107/3855	369/1284	S/R	agC/agA	rs369662414	1		-1	ZNF423	HGNC	HGNC:16762	protein_coding	YES	CCDS32445.1	ENSP00000455426	Q2M1K9		UPI0000353ABC		deleterious(0)		5/9		Low_complexity_(Seg):seg,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF210																	MODERATE	1	SNV	5			1										PASS		rs369662414	.												T	3	4	69	49638045	49638045	G	T	1	0	0	0	0	1	0	0	0	18470	1078	38	1		1	ZNF423	16	49638045	Missense_Mutation	SNP	G	C3N-01023_TP	358579	49638045	40700300	141	22135											
SALL1	0	.	GRCh38	chr16	51138911	51138911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagacgggacgtgactggtgGgggtgtccttactgtcctga	6	10	16	9	2	0	3	0	2	0	1	2	4	2	4	2	4	1	0	2	4	1	1	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.3311C>A	p.Pro1104His	p.P1104H	ENST00000251020	2/3	555	481	74	402	402	0	strelka-varscan-mutect	SALL1,missense_variant,p.Pro1007His,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Pro1104His,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Pro1007His,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	T	ENST00000251020	Transcript	missense_variant	3345/5146	3311/3975	1104/1324	P/H	cCc/cAc		1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	deleterious(0.03)		2/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	51138911	51138911	G	T	1	0	0	0	0	1	0	0	0	14069	1232	43	2		2	SALL1	16	51138911	Missense_Mutation	SNP	G	C3N-01023_TP	1500866	51138911	39199434	142	22136											
TERF2	0	.	GRCh38	chr16	69384615	69384615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctactggattcgaccaCtgcttctgtcagtgtaaatt	8	17	7	9	1	3	0	1	0	2	0	4	2	3	1	1	1	2	2	1	1	3	7	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.571G>T	p.Val191Leu	p.V191L	ENST00000254942	3/10	237	181	56	164	164	0	strelka-varscan-mutect	TERF2,missense_variant,p.Val191Leu,ENST00000254942,NM_005652.4;TERF2,missense_variant,p.Val191Leu,ENST00000567296,;TERF2,missense_variant,p.Val70Leu,ENST00000566750,;TERF2,missense_variant,p.Val28Leu,ENST00000566257,;TERF2,missense_variant,p.Val46Leu,ENST00000567841,;TERF2,missense_variant,p.Val13Leu,ENST00000569542,;TERF2,non_coding_transcript_exon_variant,,ENST00000569611,;TERF2,3_prime_UTR_variant,,ENST00000569280,;	A	ENST00000254942	Transcript	missense_variant	588/2983	571/1629	191/542	V/L	Gtg/Ttg		1		-1	TERF2	HGNC	HGNC:11729	protein_coding	YES	CCDS10879.2	ENSP00000254942	Q15554		UPI0000EE5A05	NM_005652.4	tolerated(0.25)		3/10		hmmpanther:PTHR21717:SF13,hmmpanther:PTHR21717,Pfam_domain:PF08558,Gene3D:1.25.40.210,Superfamily_domains:SSF63600,PD014243																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	69384615	69384615	C	A	1	0	0	0	0	1	0	0	0	16181	565	20	2		2	TERF2	16	69384615	Missense_Mutation	SNP	C	C3N-01023_TP	18245704	69384615	20953730	143	22137											
CNTNAP4	0	.	GRCh38	chr16	76535666	76535666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagtgcagccaggttgtagGggacattgcagcagctatgg	10	8	16	7	0	0	0	0	0	0	0	0	2	0	1	1	4	5	6	1	4	3	4	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.2877G>T	p.Arg959Ser	p.R959S	ENST00000611870	18/24	381	295	86	243	243	0	strelka-varscan-mutect	CNTNAP4,missense_variant,p.Arg959Ser,ENST00000307431,;CNTNAP4,missense_variant,p.Arg959Ser,ENST00000611870,NM_033401.3;CNTNAP4,missense_variant,p.Arg911Ser,ENST00000377504,;CNTNAP4,missense_variant,p.Arg962Ser,ENST00000476707,;CNTNAP4,missense_variant,p.Arg911Ser,ENST00000622250,;CNTNAP4,missense_variant,p.Arg886Ser,ENST00000478060,NM_138994.3;	T	ENST00000611870	Transcript	missense_variant	3262/4867	2877/3927	959/1308	R/S	agG/agT		1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3	tolerated(0.13)		18/24		Gene3D:2.60.120.200,PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	76535666	76535666	G	T	1	0	0	0	0	1	0	0	0	3431	1223	43	2		2	CNTNAP4	16	76535666	Missense_Mutation	SNP	G	C3N-01023_TP	7151051	76535666	13802679	144	22138											
CNTNAP4	0	.	GRCh38	chr16	76558563	76558563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcatttatcagcagaaaagGttatataaaagaagtgaggc	17	9	10	5	1	1	3	1	1	0	2	1	3	1	3	0	2	1	3	0	2	8	5	rs372665319		C3N-01023_TP	C3N-01023_NB	G	G																c.3807G>T	p.Arg1269Ser	p.R1269S	ENST00000611870	24/24	151	136	15	138	138	0	strelka-varscan-mutect	CNTNAP4,missense_variant,p.Arg1269Ser,ENST00000307431,;CNTNAP4,missense_variant,p.Arg1269Ser,ENST00000611870,NM_033401.3;CNTNAP4,missense_variant,p.Arg1221Ser,ENST00000377504,;CNTNAP4,missense_variant,p.Arg1272Ser,ENST00000476707,;CNTNAP4,missense_variant,p.Arg1221Ser,ENST00000622250,;CNTNAP4,missense_variant,p.Arg1196Ser,ENST00000478060,NM_138994.3;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000619533,;RP11-58C22.1,intron_variant,,ENST00000563764,;	T	ENST00000611870	Transcript	missense_variant	4192/4867	3807/3927	1269/1308	R/S	agG/agT	rs372665319,COSM5643531,COSM5643532,COSM5681691,COSM5681692	1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3	tolerated(0.57)		24/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs372665319	.												T	3	4	69	76558563	76558563	G	T	1	0	0	0	0	1	0	0	0	3431	1252	44	2		2	CNTNAP4	16	76558563	Missense_Mutation	SNP	G	C3N-01023_TP	22897	76558563	13779782	145	22139											
MYH13	0	.	GRCh38	chr17	10315797	10315797	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agactccttctcttccactcGgtggctcagctcccctacca	6	11	6	18	1	2	1	1	0	1	1	7	1	5	1	5	2	2	2	5	2	1	3			C3N-01023_TP	C3N-01023_NB	G	G																c.3880C>A	p.=	p.R1294R	ENST00000418404	28/41	190	130	60	157	157	0	strelka-varscan-mutect	MYH13,synonymous_variant,p.=,ENST00000418404,;MYH13,synonymous_variant,p.=,ENST00000252172,NM_003802.2;MYH13,synonymous_variant,p.=,ENST00000621918,;RP11-401O9.4,intron_variant,,ENST00000609088,;RP11-401O9.3,upstream_gene_variant,,ENST00000577743,;	T	ENST00000418404	Transcript	synonymous_variant	4044/6296	3880/5817	1294/1938	R	Cga/Aga	COSM4605249,COSM4605250	1		-1	MYH13	HGNC	HGNC:7571	protein_coding	YES	CCDS45613.1	ENSP00000404570	Q9UKX3		UPI0000DB39EA				28/41		Pfam_domain:PF01576,Superfamily_domains:SSF90257											1,1						LOW		SNV	5		1,1	1										PASS		.	.												T	2	4	69	10315797	10315797	G	T	1	0	0	0	0	0	0	0	1	10032	1124	39	1		1	MYH13	17	10315797	Silent	SNP	G	C3N-01023_TP		10315797	72941644	146	22140											
CDC6	0	.	GRCh38	chr17	40291315	40291318	+	Frame_Shift_Del	DEL	TGTG	TGTG	-																															cactgaagaaagaatctgcaTgtgtgagactattcaagcaa																								novel		C3N-01023_TP	C3N-01023_NB	TGTG	TGTG																c.438_441delTGTG	p.Cys146Ter	p.C146*	ENST00000209728	3/12	245	212	33	215	215	0	sindel-varindel-pindel	CDC6,frameshift_variant,p.Cys146Ter,ENST00000209728,NM_001254.3;CDC6,frameshift_variant,p.Cys146Ter,ENST00000580824,;CDC6,downstream_gene_variant,,ENST00000473555,;CDC6,downstream_gene_variant,,ENST00000577249,;CDC6,upstream_gene_variant,,ENST00000582402,;	-	ENST00000209728	Transcript	frameshift_variant	907-910/4810	436-439/1683	146-147/560	CV/X	TGTGtg/tg		1		1	CDC6	HGNC	HGNC:1744	protein_coding	YES	CCDS11365.1	ENSP00000209728	Q99741	A0A024R1S2	UPI0000073C6C	NM_001254.3			3/12		hmmpanther:PTHR10763:SF26,hmmpanther:PTHR10763,PIRSF_domain:PIRSF001767																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	69	40291315	40291315	TGTG	-	1	0	1	0	1	0	0	0	0	2786	1464	51	0		0	CDC6	17	40291315	Frame_Shift_Del	DEL	TGTG	C3N-01023_TP	29975518	40291315	42966126	147	22141											
KRT10	0	.	GRCh38	chr17	40818899	40818899	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgccgccgccggagcTgccgcccccgtagccgccgc	2	4	14	21	7	0	0	0	0	0	0	0	1	0	1	8	1	5	4	8	1	1	1	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.1636A>G	p.Ser546Gly	p.S546G	ENST00000269576	7/8	176	165	11	153	150	3	varscan-mutect	KRT10,missense_variant,p.Ser546Gly,ENST00000269576,NM_000421.3;KRT10,missense_variant,p.Ser29Gly,ENST00000635956,;TMEM99,upstream_gene_variant,,ENST00000622451,NM_001195386.1;TMEM99,upstream_gene_variant,,ENST00000301665,NM_001195387.1,NM_145274.3;TMEM99,upstream_gene_variant,,ENST00000436612,;TMEM99,upstream_gene_variant,,ENST00000496847,;	C	ENST00000269576	Transcript	missense_variant	1646/2124	1636/1755	546/584	S/G	Agc/Ggc		1		-1	KRT10	HGNC	HGNC:6413	protein_coding	YES	CCDS11377.1	ENSP00000269576	P13645		UPI000013D842	NM_000421.3	tolerated_low_confidence(0.75)		7/8		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1217847176	.												C	3	2	69	40818899	40818899	T	C	1	0	0	0	0	1	0	0	0	8330	1580	55	5		5	KRT10	17	40818899	Missense_Mutation	SNP	T	C3N-01023_TP	527584	40818899	42438542	148	22142											
KRTAP4-6	0	.	GRCh38	chr17	41140291	41140291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgacagcagctgggaCagcagctgggacggcagcag	9	5	17	10	1	1	1	0	1	1	0	1	3	1	3	0	4	5	6	0	4	0	0	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.197G>A	p.Cys66Tyr	p.C66Y	ENST00000345847	1/1	436	384	52	284	283	1	strelka-varscan-mutect	KRTAP4-6,missense_variant,p.Cys66Tyr,ENST00000345847,NM_030976.1;	T	ENST00000345847	Transcript	missense_variant	197/1055	197/618	66/205	C/Y	tGt/tAt		1		-1	KRTAP4-6	HGNC	HGNC:18909	protein_coding	YES	CCDS54125.1	ENSP00000328270	Q9BYQ5		UPI00006C17B9	NM_030976.1	deleterious(0.04)		1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF60,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	69	41140291	41140291	C	T	1	0	0	0	0	1	0	0	0	8449	478	17	3		3	KRTAP4-6	17	41140291	Missense_Mutation	SNP	C	C3N-01023_TP	321392	41140291	42117150	149	22143											
ABCA10	0	.	GRCh38	chr17	69152184	69152184	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaatggaaccaatacacCtagttcaggggaaataaaga	17	8	10	6	0	1	2	1	1	0	1	1	4	1	4	2	3	2	2	2	3	8	5	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.4257-1G>T		p.X1419_splice	ENST00000269081		83	74	9	58	58	0	strelka-varscan-mutect	ABCA10,splice_acceptor_variant,,ENST00000269081,NM_080282.3;ABCA10,upstream_gene_variant,,ENST00000521538,;ABCA10,upstream_gene_variant,,ENST00000522787,;ABCA10,splice_acceptor_variant,,ENST00000519732,;ABCA10,splice_acceptor_variant,,ENST00000522406,;ABCA10,splice_acceptor_variant,,ENST00000518929,;ABCA10,splice_acceptor_variant,,ENST00000523419,;ABCA10,upstream_gene_variant,,ENST00000524231,;ABCA10,upstream_gene_variant,,ENST00000588514,;	A	ENST00000269081	Transcript	splice_acceptor_variant	-/6362	4257/4632	1419/1543				1		-1	ABCA10	HGNC	HGNC:30	protein_coding	YES	CCDS11684.1	ENSP00000269081	Q8WWZ4		UPI000013D7F6	NM_080282.3				36/39																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	69	69152184	69152184	C	A	1	0	0	0	0	0	0	1	0	33	695	24	2		2	ABCA10	17	69152184	Splice_Site	SNP	C	C3N-01023_TP	28011893	69152184	14105257	150	22144											
CELF4	0	.	GRCh38	chr18	37270785	37270785	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacctgggtaggggtggatgCcattggcgaacacagcttcc	8	9	14	10	1	0	0	0	0	0	0	1	2	1	1	3	5	4	2	3	5	3	4	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.1082G>T	p.Gly361Val	p.G361V	ENST00000420428	8/13	356	325	31	224	224	0	strelka-varscan-mutect	CELF4,missense_variant,p.Gly361Val,ENST00000420428,NM_020180.3;CELF4,missense_variant,p.Gly360Val,ENST00000591287,;CELF4,missense_variant,p.Gly351Val,ENST00000334919,NM_001025089.1;CELF4,missense_variant,p.Gly54Val,ENST00000588591,;CELF4,missense_variant,p.Gly46Val,ENST00000586009,;CELF4,missense_variant,p.Gly360Val,ENST00000603232,NM_001025087.1;CELF4,missense_variant,p.Gly359Val,ENST00000361795,NM_001025088.1;CELF4,missense_variant,p.Gly359Val,ENST00000601019,;CELF4,missense_variant,p.Gly361Val,ENST00000591282,;CELF4,missense_variant,p.Gly350Val,ENST00000588597,;CELF4,missense_variant,p.Gly50Val,ENST00000589386,;CELF4,missense_variant,p.Gly50Val,ENST00000593271,;CELF4,missense_variant,p.Gly50Val,ENST00000587657,;CELF4,downstream_gene_variant,,ENST00000601392,;CELF4,downstream_gene_variant,,ENST00000587819,;CELF4,downstream_gene_variant,,ENST00000589229,;CELF4,downstream_gene_variant,,ENST00000587924,;RP11-797E24.3,upstream_gene_variant,,ENST00000586610,;RP11-797E24.3,upstream_gene_variant,,ENST00000588766,;CELF4,non_coding_transcript_exon_variant,,ENST00000587074,;CELF4,3_prime_UTR_variant,,ENST00000590112,;CELF4,non_coding_transcript_exon_variant,,ENST00000591421,;	A	ENST00000420428	Transcript	missense_variant	1478/4052	1082/1461	361/486	G/V	gGc/gTc		1		-1	CELF4	HGNC	HGNC:14015	protein_coding	YES	CCDS32818.1	ENSP00000410584	Q9BZC1		UPI00000726FC	NM_020180.3	deleterious(0)		8/13																			MODERATE		SNV	5			1										PASS		.	.												A	3	1	69	37270785	37270785	C	A	1	0	0	0	0	1	0	0	0	2925	739	26	2		2	CELF4	18	37270785	Missense_Mutation	SNP	C	C3N-01023_TP		37270785	43102500	151	22145											
CDH20	0	.	GRCh38	chr18	61528105	61528105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgtggaagacgtggacgagCcccctgtgtttgaacctggc	7	9	15	10	2	0	2	0	1	0	1	0	5	0	4	3	3	2	1	3	3	2	1	rs777679557		C3N-01023_TP	C3N-01023_NB	C	C																c.1156C>A	p.Pro386Thr	p.P386T	ENST00000262717	7/12	578	443	135	370	370	0	strelka-varscan-mutect	CDH20,missense_variant,p.Pro386Thr,ENST00000262717,;CDH20,missense_variant,p.Pro386Thr,ENST00000536675,NM_031891.2;CDH20,missense_variant,p.Pro386Thr,ENST00000538374,;	A	ENST00000262717	Transcript	missense_variant	1554/3882	1156/2406	386/801	P/T	Ccc/Acc	rs777679557,COSM5505943	1		1	CDH20	HGNC	HGNC:1760	protein_coding	YES	CCDS11977.1	ENSP00000262717	Q9HBT6		UPI000013D30D		deleterious(0)		7/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs777679557	.												A	3	1	69	61528105	61528105	C	A	1	0	0	0	0	1	0	0	0	2809	739	26	2		2	CDH20	18	61528105	Missense_Mutation	SNP	C	C3N-01023_TP	24257320	61528105	18845180	152	22146											
PIGN	0	.	GRCh38	chr18	62157207	62157207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaaaaagagaatcaaactCtacaggattttccttccatc	16	12	4	9	0	2	1	1	0	1	1	5	3	4	2	2	1	2	0	2	1	6	5	rs200756305		C3N-01023_TP	C3N-01023_NB	C	C																c.364G>A	p.Glu122Lys	p.E122K	ENST00000357637	6/31	167	156	11	134	134	0	strelka-mutect	PIGN,missense_variant,p.Glu122Lys,ENST00000357637,NM_176787.4;PIGN,missense_variant,p.Glu122Lys,ENST00000400334,NM_012327.5;PIGN,missense_variant,p.Glu122Lys,ENST00000589720,;PIGN,missense_variant,p.Glu122Lys,ENST00000585923,;PIGN,missense_variant,p.Glu45Lys,ENST00000588748,;PIGN,missense_variant,p.Glu45Lys,ENST00000591238,;PIGN,missense_variant,p.Glu86Lys,ENST00000590765,;PIGN,missense_variant,p.Glu45Lys,ENST00000585458,;PIGN,missense_variant,p.Glu27Lys,ENST00000589098,;PIGN,downstream_gene_variant,,ENST00000587134,;PIGN,downstream_gene_variant,,ENST00000585344,;PIGN,downstream_gene_variant,,ENST00000588571,;PIGN,downstream_gene_variant,,ENST00000589339,;PIGN,downstream_gene_variant,,ENST00000585926,;PIGN,upstream_gene_variant,,ENST00000592803,;	T	ENST00000357637	Transcript	missense_variant	780/5501	364/2796	122/931	E/K	Gag/Aag	rs200756305	1		-1	PIGN	HGNC	HGNC:8967	protein_coding	YES	CCDS45879.1	ENSP00000350263	O95427	A0A024R2C3	UPI0000070A47	NM_176787.4	deleterious(0)		6/31		Gene3D:3.40.720.10,hmmpanther:PTHR12250,Superfamily_domains:SSF53649										uncertain_significance							MODERATE	1	SNV	1		1	1										PASS		rs200756305	.												T	3	4	69	62157207	62157207	C	T	1	0	0	0	0	1	0	0	0	11987	922	32	3		3	PIGN	18	62157207	Missense_Mutation	SNP	C	C3N-01023_TP	629102	62157207	18216078	153	22147											
CDH7	0	.	GRCh38	chr18	65880847	65880847	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggggacctcgctttaaaCgactcgcggacatgtatggg	9	9	13	10	4	0	0	0	0	0	0	2	3	0	2	1	4	1	2	1	4	3	3	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.2311C>T	p.Arg771Ter	p.R771*	ENST00000397968	12/12	177	152	25	137	137	0	strelka-varscan-mutect	CDH7,stop_gained,p.Arg771Ter,ENST00000397968,NM_004361.2;CDH7,stop_gained,p.Arg771Ter,ENST00000323011,NM_033646.1;	T	ENST00000397968	Transcript	stop_gained	2737/12231	2311/2358	771/785	R/*	Cga/Tga		1		1	CDH7	HGNC	HGNC:1766	protein_coding	YES	CCDS11993.1	ENSP00000381058	Q9ULB5		UPI000013D269	NM_004361.2			12/12		Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91																	HIGH	1	SNV	1			1										PASS		rs1454134664	.												T	4	4	69	65880847	65880847	C	T	1	0	0	0	0	0	1	0	0	2818	528	19	1		1	CDH7	18	65880847	Nonsense_Mutation	SNP	C	C3N-01023_TP	3723640	65880847	14492438	154	22148											
ELANE	0	.	GRCh38	chr19	856036	856036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggggaggctgcgcctcaGggctctaccccgatgccttt	4	9	13	15	3	2	0	1	0	1	0	3	2	3	1	5	4	3	2	5	4	1	2	rs780046041		C3N-01023_TP	C3N-01023_NB	G	G																c.676G>T	p.Gly226Trp	p.G226W	ENST00000590230	6/6	407	340	67	306	306	0	strelka-varscan-mutect	ELANE,missense_variant,p.Gly226Trp,ENST00000590230,;ELANE,missense_variant,p.Gly226Trp,ENST00000263621,NM_001972.2;CFD,upstream_gene_variant,,ENST00000327726,NM_001317335.1,NM_001928.2;CFD,upstream_gene_variant,,ENST00000592860,;	T	ENST00000590230	Transcript	missense_variant	817/1028	676/804	226/267	G/W	Ggg/Tgg	rs780046041,CM078497	1		1	ELANE	HGNC	HGNC:3309	protein_coding	YES	CCDS12045.1	ENSP00000466090	P08246		UPI0000129E6B		deleterious(0)		6/6		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF16,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE		SNV	5		0,1	1										PASS		rs780046041	.												T	3	4	69	856036	856036	G	T	1	0	0	0	0	1	0	0	0	4881	1000	35	2		2	ELANE	19	856036	Missense_Mutation	SNP	G	C3N-01023_TP		856036	57761580	155	22149											
SBNO2	0	.	GRCh38	chr19	1117463	1117463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactccaggccgatccagtCggccgcctgctggaacacgt	7	6	12	16	5	0	0	0	0	0	0	3	3	2	1	5	3	2	1	5	3	1	0	rs771547650		C3N-01023_TP	C3N-01023_NB	C	C																c.1564G>T	p.Asp522Tyr	p.D522Y	ENST00000361757	15/32	166	139	27	130	129	1	strelka-varscan-mutect	SBNO2,missense_variant,p.Asp522Tyr,ENST00000361757,NM_014963.2;SBNO2,missense_variant,p.Asp512Tyr,ENST00000587024,;SBNO2,missense_variant,p.Asp465Tyr,ENST00000438103,NM_001100122.1;SBNO2,non_coding_transcript_exon_variant,,ENST00000592222,;SBNO2,non_coding_transcript_exon_variant,,ENST00000590446,;	A	ENST00000361757	Transcript	missense_variant	1802/4923	1564/4101	522/1366	D/Y	Gac/Tac	rs771547650	1		-1	SBNO2	HGNC	HGNC:29158	protein_coding	YES	CCDS45894.1	ENSP00000354733	Q9Y2G9		UPI0000140680	NM_014963.2	deleterious(0)		15/32		hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF5																	MODERATE	1	SNV	1			1										PASS		rs771547650	.												A	3	1	69	1117463	1117463	C	A	1	0	0	0	0	1	0	0	0	14128	884	31	1		1	SBNO2	19	1117463	Missense_Mutation	SNP	C	C3N-01023_TP	261427	1117463	57500153	156	22150											
STK11	0	.	GRCh38	chr19	1207133	1207134	+	Frame_Shift_Ins	INS	-	-	TGAGGGC																															ggactcggagacgctgtgcaINSggagggccgtcaagatcctc																								novel		C3N-01023_TP	C3N-01023_NB	-	-																c.220_221insTGAGGGC	p.Arg74MetfsTer91	p.R74Mfs*91	ENST00000326873	1/10	246	154	92	200	200	0	sindel-varindel	STK11,frameshift_variant,p.Arg74MetfsTer91,ENST00000586243,;STK11,frameshift_variant,p.Arg74MetfsTer91,ENST00000326873,NM_000455.4;STK11,frameshift_variant,p.Arg74MetfsTer33,ENST00000585851,;STK11,intron_variant,,ENST00000585748,;STK11,frameshift_variant,p.Arg74MetfsTer?,ENST00000593219,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;HMGB2P1,downstream_gene_variant,,ENST00000591146,;	TGAGGGC	ENST00000326873	Transcript	frameshift_variant	670-671/2611	220-221/1302	74/433	R/MRAX	agg/aTGAGGGCgg		1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4			1/10		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	insertion	1			1										PASS		.	.												TGAGGGC	7	5	69	1207133	1207133	-	TGAGGGC	1	0	1	1	0	0	0	0	0	15664	179	7	0		0	STK11	19	1207133	Frame_Shift_Ins	INS	-	C3N-01023_TP	89670	1207133	57410483	157	22151											
RFX2	0	.	GRCh38	chr19	6001849	6001849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagcaagaactgccgggCggccttggggaagctggggc	7	7	17	10	2	1	1	1	0	0	1	1	2	1	2	2	6	4	2	2	6	3	2	rs753304252		C3N-01023_TP	C3N-01023_NB	C	C																c.1825G>T	p.Ala609Ser	p.A609S	ENST00000303657	15/18	71	66	5	85	85	0	strelka-varscan-mutect	RFX2,missense_variant,p.Ala609Ser,ENST00000303657,NM_000635.3;RFX2,missense_variant,p.Ala609Ser,ENST00000359161,;RFX2,missense_variant,p.Ala584Ser,ENST00000592546,NM_134433.2;RFX2,downstream_gene_variant,,ENST00000589340,;CTC-232P5.1,intron_variant,,ENST00000587836,;RFX2,upstream_gene_variant,,ENST00000590778,;	A	ENST00000303657	Transcript	missense_variant	1975/3993	1825/2172	609/723	A/S	Gcc/Tcc	rs753304252	1		-1	RFX2	HGNC	HGNC:9983	protein_coding	YES	CCDS12157.1	ENSP00000306335	P48378		UPI000013D4B1	NM_000635.3	deleterious(0.01)		15/18		hmmpanther:PTHR12619:SF17,hmmpanther:PTHR12619																	MODERATE	1	SNV	1			1										PASS		rs753304252	.												A	3	1	69	6001849	6001849	C	A	1	0	0	0	0	1	0	0	0	13437	768	27	1		1	RFX2	19	6001849	Missense_Mutation	SNP	C	C3N-01023_TP	4794716	6001849	52615767	158	22152											
ACER1	0	.	GRCh38	chr19	6312412	6312412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgaagaggacccagacaaCgtaaatgtagcgggagcgct	14	5	13	9	3	0	3	0	1	0	2	0	5	0	5	1	2	3	3	1	2	5	2	rs373391912		C3N-01023_TP	C3N-01023_NB	C	C																c.181G>T	p.Val61Phe	p.V61F	ENST00000301452	2/6	217	184	33	195	195	0	strelka-varscan-mutect	ACER1,missense_variant,p.Val61Phe,ENST00000301452,NM_133492.2;	A	ENST00000301452	Transcript	missense_variant	259/1445	181/795	61/264	V/F	Gtt/Ttt	rs373391912	1		-1	ACER1	HGNC	HGNC:18356	protein_coding	YES	CCDS12161.1	ENSP00000301452	Q8TDN7		UPI000003FD52	NM_133492.2	tolerated(0.63)		2/6		Pfam_domain:PF05875,hmmpanther:PTHR12956,hmmpanther:PTHR12956:SF18,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs373391912	.												A	3	1	69	6312412	6312412	C	A	1	0	0	0	0	1	0	0	0	176	536	19	1		1	ACER1	19	6312412	Missense_Mutation	SNP	C	C3N-01023_TP	310563	6312412	52305204	159	22153											
MUC16	0	.	GRCh38	chr19	8980915	8980915	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcacccccaaagactgggtgGttcttcccacaaccgaagat	11	8	8	14	1	2	2	1	0	1	2	3	3	3	2	4	2	1	1	4	2	3	2	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.224C>G	p.Thr75Ser	p.T75S	ENST00000397910	1/84	140	113	27	142	142	0	strelka-varscan-mutect	MUC16,missense_variant,p.Thr75Ser,ENST00000397910,NM_024690.2;	C	ENST00000397910	Transcript	missense_variant	428/43816	224/43524	75/14507	T/S	aCc/aGc		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	69	8980915	8980915	G	C	1	0	0	0	0	1	0	0	0	9972	1261	44	4		4	MUC16	19	8980915	Missense_Mutation	SNP	G	C3N-01023_TP	2668503	8980915	49636701	160	22154											
ZNF208	0	.	GRCh38	chr19	21972847	21972847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggactgagaatgtactaaaGcttttgccacattcttcaca	13	12	7	9	0	2	1	1	1	1	1	2	3	2	2	1	1	3	2	1	1	4	6	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.2187C>A	p.Ser729Arg	p.S729R	ENST00000397126	4/4	245	200	45	214	214	0	strelka-varscan-mutect	ZNF208,missense_variant,p.Ser729Arg,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Ser629Arg,ENST00000609966,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;AC003973.3,upstream_gene_variant,,ENST00000624863,;	T	ENST00000397126	Transcript	missense_variant	2336/3992	2187/3843	729/1280	S/R	agC/agA		1		-1	ZNF208	HGNC	HGNC:12999	protein_coding	YES	CCDS54240.1	ENSP00000380315	O43345		UPI0001B23C28	NM_007153.3	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		.	.												T	3	4	69	21972847	21972847	G	T	1	0	0	0	0	1	0	0	0	18343	962	34	2		2	ZNF208	19	21972847	Missense_Mutation	SNP	G	C3N-01023_TP	12991932	21972847	36644769	161	22155											
ZNF676	0	.	GRCh38	chr19	22180694	22180694	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgattaaaagctttcccgcaTtcttcacatttgtagggttt	9	16	7	9	2	2	0	1	0	1	0	3	1	3	0	1	1	1	4	1	1	3	7	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.1023A>T	p.Glu341Asp	p.E341D	ENST00000397121	3/3	314	281	33	285	285	0	varscan-mutect	ZNF676,missense_variant,p.Glu341Asp,ENST00000397121,NM_001001411.2;	A	ENST00000397121	Transcript	missense_variant	1341/2944	1023/1767	341/588	E/D	gaA/gaT		1		-1	ZNF676	HGNC	HGNC:20429	protein_coding	YES	CCDS42539.1	ENSP00000380310	Q8N7Q3		UPI00002376EC	NM_001001411.2	deleterious(0.03)		3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF112,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	69	22180694	22180694	T	A	1	0	0	0	0	1	0	0	0	18656	1490	52	4		4	ZNF676	19	22180694	Missense_Mutation	SNP	T	C3N-01023_TP	207847	22180694	36436922	162	22156											
USF2	0	.	GRCh38	chr19	35279098	35279098	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcggggcctggagcgggTcagggcccaggagccccaga	6	3	20	12	2	1	1	1	0	0	1	1	3	1	3	4	7	3	0	4	7	0	0	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.969T>A	p.=	p.G323G	ENST00000594064	9/9	112	77	35	75	75	0	strelka-varscan-mutect	USF2,synonymous_variant,p.=,ENST00000594064,;USF2,intron_variant,,ENST00000222305,NM_003367.2;USF2,intron_variant,,ENST00000595068,;USF2,intron_variant,,ENST00000343550,NM_207291.1;USF2,intron_variant,,ENST00000599471,;USF2,intron_variant,,ENST00000379134,;USF2,intron_variant,,ENST00000599625,;HAMP,upstream_gene_variant,,ENST00000598398,;HAMP,upstream_gene_variant,,ENST00000222304,NM_021175.2;USF2,downstream_gene_variant,,ENST00000596380,;USF2,intron_variant,,ENST00000600341,;USF2,intron_variant,,ENST00000594264,;USF2,intron_variant,,ENST00000607959,;USF2,intron_variant,,ENST00000600898,;HAMP,upstream_gene_variant,,ENST00000593580,;USF2,downstream_gene_variant,,ENST00000597671,;	A	ENST00000594064	Transcript	synonymous_variant	969/1179	969/1050	323/349	G	ggT/ggA		1		1	USF2	HGNC	HGNC:12594	protein_coding			ENSP00000471511		B4DLJ1	UPI00017A7577				9/9		Low_complexity_(Seg):seg																	LOW		SNV	2			1										PASS		.	.												A	2	1	69	35279098	35279098	T	A	1	0	0	0	0	0	0	0	1	17566	1654	58	4		4	USF2	19	35279098	Silent	SNP	T	C3N-01023_TP	13098404	35279098	23338518	163	22157											
ZNF813	0	.	GRCh38	chr19	53486652	53486652	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctattgacattcagggaTgtggccatagaattctctca	10	13	10	8	0	4	2	2	1	2	1	5	3	4	3	1	3	0	0	1	3	3	5	rs777184469		C3N-01023_TP	C3N-01023_NB	T	T																c.36T>C	p.=	p.D12D	ENST00000396403	3/4	261	244	17	262	258	4	varscan-mutect	ZNF813,synonymous_variant,p.=,ENST00000396403,NM_001004301.3;ZNF813,synonymous_variant,p.=,ENST00000490956,;ZNF813,intron_variant,,ENST00000468450,;	C	ENST00000396403	Transcript	synonymous_variant	164/6151	36/1854	12/617	D	gaT/gaC	rs777184469	1		1	ZNF813	HGNC	HGNC:33257	protein_coding	YES	CCDS46172.1	ENSP00000379684	Q6ZN06		UPI000040C511	NM_001004301.3			3/4		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,SMART_domains:SM00349																	LOW	1	SNV	3			1										PASS		rs777184469	.												C	2	2	69	53486652	53486652	T	C	1	0	0	0	0	0	0	0	1	18761	1461	51	5		5	ZNF813	19	53486652	Silent	SNP	T	C3N-01023_TP	18207554	53486652	5130964	164	22158											
UBOX5	0	.	GRCh38	chr20	3121659	3121659	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaggaaatggtcaatcCgggccttgagggaggggtga	10	6	19	6	1	1	2	1	2	0	0	2	5	2	5	2	7	1	1	2	7	2	1	rs779690705		C3N-01023_TP	C3N-01023_NB	C	C																c.980G>T	p.Arg327Leu	p.R327L	ENST00000217173	3/5	368	318	50	300	299	1	strelka-varscan-mutect	UBOX5,missense_variant,p.Arg327Leu,ENST00000217173,NM_001267584.1,NM_014948.3;UBOX5,missense_variant,p.Arg327Leu,ENST00000348031,NM_199415.2;UBOX5,downstream_gene_variant,,ENST00000449731,;UBOX5-AS1,intron_variant,,ENST00000446537,;UBOX5-AS1,downstream_gene_variant,,ENST00000454019,;	A	ENST00000217173	Transcript	missense_variant	1452/4631	980/1626	327/541	R/L	cGg/cTg	rs779690705	1		-1	UBOX5	HGNC	HGNC:17777	protein_coding	YES	CCDS13046.1	ENSP00000217173	O94941		UPI0000137935	NM_001267584.1,NM_014948.3	deleterious(0)		3/5		PROSITE_profiles:PS51698,hmmpanther:PTHR13492:SF2,hmmpanther:PTHR13492,Pfam_domain:PF04564,Gene3D:3.30.40.10,SMART_domains:SM00504,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		rs779690705	.												A	3	1	69	3121659	3121659	C	A	1	0	0	0	0	1	0	0	0	17418	652	23	1		1	UBOX5	20	3121659	Missense_Mutation	SNP	C	C3N-01023_TP		3121659	61322508	165	22159											
PTPRT	0	.	GRCh38	chr20	42315731	42315731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatacttactccattggCtttgctgagtgcctggaagt	7	13	11	10	0	0	1	0	1	0	0	1	2	1	2	3	3	4	2	3	3	3	4	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.2131G>T	p.Ala711Ser	p.A711S	ENST00000373198	12/32	139	122	17	94	94	0	strelka-varscan-mutect	PTPRT,missense_variant,p.Ala711Ser,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Ala711Ser,ENST00000373193,;PTPRT,missense_variant,p.Ala711Ser,ENST00000373201,;PTPRT,missense_variant,p.Ala711Ser,ENST00000373190,;PTPRT,missense_variant,p.Ala711Ser,ENST00000373184,;PTPRT,missense_variant,p.Ala711Ser,ENST00000356100,;PTPRT,missense_variant,p.Ala711Ser,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Ala329Ser,ENST00000612229,;PTPRT,missense_variant,p.Ala327Ser,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	A	ENST00000373198	Transcript	missense_variant	2367/12746	2131/4383	711/1460	A/S	Gcc/Tcc		1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	tolerated(0.37)		12/32		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208																	MODERATE	1	SNV	2			1										PASS		rs1329010453	.												A	3	1	69	42315731	42315731	C	A	1	0	0	0	0	1	0	0	0	12967	797	28	2		2	PTPRT	20	42315731	Missense_Mutation	SNP	C	C3N-01023_TP	39194072	42315731	22128436	166	22160											
ZMYND8	0	.	GRCh38	chr20	47298845	47298845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggccttcccggtgacaaaCccagcagtagaaatcattcc	11	9	8	13	1	1	2	1	1	0	1	3	2	3	2	4	2	2	2	4	2	3	4	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.337G>T	p.Val113Phe	p.V113F	ENST00000471951	4/23	637	422	215	371	371	0	strelka-varscan-mutect	ZMYND8,missense_variant,p.Val93Phe,ENST00000355972,NM_001281773.2;ZMYND8,missense_variant,p.Val93Phe,ENST00000396281,NM_001281772.2;ZMYND8,missense_variant,p.Val93Phe,ENST00000446994,;ZMYND8,missense_variant,p.Val93Phe,ENST00000311275,;ZMYND8,missense_variant,p.Val120Phe,ENST00000536340,;ZMYND8,missense_variant,p.Val68Phe,ENST00000372023,NM_001281779.2,NM_001281780.2;ZMYND8,missense_variant,p.Val93Phe,ENST00000611941,;ZMYND8,missense_variant,p.Val88Phe,ENST00000360911,NM_183048.3,NM_001281778.2;ZMYND8,missense_variant,p.Val93Phe,ENST00000262975,NM_001281774.2;ZMYND8,missense_variant,p.Val113Phe,ENST00000471951,NM_001281775.2,NM_001281776.2;ZMYND8,missense_variant,p.Val68Phe,ENST00000619049,;ZMYND8,missense_variant,p.Val113Phe,ENST00000352431,NM_012408.5,NM_001281783.2;ZMYND8,missense_variant,p.Val88Phe,ENST00000458360,NM_001281771.2;ZMYND8,missense_variant,p.Val20Phe,ENST00000467200,;ZMYND8,missense_variant,p.Val113Phe,ENST00000461685,NM_001281777.2,NM_183047.3;ZMYND8,missense_variant,p.Val88Phe,ENST00000617418,NM_001281782.2;ZMYND8,missense_variant,p.Val88Phe,ENST00000540497,NM_001281781.2,NM_001281784.2;ZMYND8,missense_variant,p.Val68Phe,ENST00000435836,;ZMYND8,non_coding_transcript_exon_variant,,ENST00000468376,;	A	ENST00000471951	Transcript	missense_variant	364/4053	337/3705	113/1234	V/F	Gtt/Ttt		1		-1	ZMYND8	HGNC	HGNC:9397	protein_coding	YES	CCDS63306.1	ENSP00000420095	Q9ULU4		UPI0000695D9A	NM_001281775.2,NM_001281776.2	deleterious(0.01)		4/23		Gene3D:3.30.40.10,PROSITE_patterns:PS01359,PROSITE_profiles:PS50016,hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF13,SMART_domains:SM00249,Superfamily_domains:SSF57903																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	47298845	47298845	C	A	1	0	0	0	0	1	0	0	0	18290	507	18	2		2	ZMYND8	20	47298845	Missense_Mutation	SNP	C	C3N-01023_TP	4983114	47298845	17145322	167	22161											
SLC9A8	0	.	GRCh38	chr20	49855497	49855497	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccactattgccattttcaAtgcacttcatgtggaccccg	8	12	8	13	1	2	0	2	0	0	0	2	1	2	1	4	2	2	1	4	2	2	5	rs200096437		C3N-01023_TP	C3N-01023_NB	A	A																c.677A>G	p.Asn226Ser	p.N226S	ENST00000417961	8/16	310	269	41	177	177	0	strelka-varscan-mutect	SLC9A8,missense_variant,p.Asn226Ser,ENST00000417961,NM_001260491.1;SLC9A8,missense_variant,p.Asn210Ser,ENST00000361573,NM_015266.2;	G	ENST00000417961	Transcript	missense_variant	887/6309	677/1794	226/597	N/S	aAt/aGt	rs200096437,COSM3389824,COSM3389825	1		1	SLC9A8	HGNC	HGNC:20728	protein_coding	YES	CCDS58774.1	ENSP00000416418	Q9Y2E8		UPI00017A7E08	NM_001260491.1	tolerated(0.29)		8/16		Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF122,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs200096437	.												G	3	3	69	49855497	49855497	A	G	1	0	0	0	0	1	0	0	0	15002	101	4	5		5	SLC9A8	20	49855497	Missense_Mutation	SNP	A	C3N-01023_TP	2556652	49855497	14588670	168	22162											
NTSR1	0	.	GRCh38	chr20	62758279	62758279	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaggtgcagtggtcatCgcctttgtggtctgctggct	3	13	14	11	1	3	0	2	0	1	0	4	0	3	0	2	4	2	3	2	4	0	1	rs765205667		C3N-01023_TP	C3N-01023_NB	C	C																c.930C>A	p.=	p.I310I	ENST00000370501	3/4	156	95	61	99	99	0	strelka-varscan-mutect	NTSR1,synonymous_variant,p.=,ENST00000370501,NM_002531.2;NTSR1,non_coding_transcript_exon_variant,,ENST00000482259,;	A	ENST00000370501	Transcript	synonymous_variant	1301/4132	930/1257	310/418	I	atC/atA	rs765205667,COSM5535751	1		1	NTSR1	HGNC	HGNC:8039	protein_coding	YES	CCDS13502.1	ENSP00000359532	P30989		UPI000013D6CF	NM_002531.2			3/4		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF9,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237											0,1						LOW	1	SNV	1		0,1	1										PASS		rs765205667	.												A	2	1	69	62758279	62758279	C	A	1	0	0	0	0	0	0	0	1	10776	874	31	1		1	NTSR1	20	62758279	Silent	SNP	C	C3N-01023_TP	12902782	62758279	1685888	169	22163											
ITSN1	0	.	GRCh38	chr21	33817413	33817413	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcatccttcaaggcccatCtcagatgctgccccctctgt	6	12	6	17	0	4	1	3	0	3	1	7	1	5	1	4	1	2	1	4	1	1	1	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.2895C>G	p.Ile965Met	p.I965M	ENST00000399338	21/21	440	371	69	336	336	0	strelka-varscan-mutect	ITSN1,missense_variant,p.Ile965Met,ENST00000399338,;ITSN1,missense_variant,p.Ile205Met,ENST00000440794,;ITSN1,intron_variant,,ENST00000381318,NM_003024.2;ITSN1,intron_variant,,ENST00000381285,;ITSN1,intron_variant,,ENST00000399367,;ITSN1,intron_variant,,ENST00000381291,NM_001001132.1;ITSN1,intron_variant,,ENST00000399352,;ITSN1,intron_variant,,ENST00000399349,;ITSN1,intron_variant,,ENST00000399355,;ITSN1,intron_variant,,ENST00000399353,;ITSN1,intron_variant,,ENST00000379960,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,upstream_gene_variant,,ENST00000428240,;ITSN1,3_prime_UTR_variant,,ENST00000419241,;ITSN1,upstream_gene_variant,,ENST00000487427,;ITSN1,downstream_gene_variant,,ENST00000465143,;ITSN1,upstream_gene_variant,,ENST00000437126,;	G	ENST00000399338	Transcript	missense_variant	2914/3115	2895/3063	965/1020	I/M	atC/atG		1		1	ITSN1	HGNC	HGNC:6183	protein_coding			ENSP00000382275	Q15811		UPI0001AE629E				21/21																			MODERATE		SNV	1			1										PASS		.	.												G	3	3	69	33817413	33817413	C	G	1	0	0	0	0	1	0	0	0	7832	903	32	4		4	ITSN1	21	33817413	Missense_Mutation	SNP	C	C3N-01023_TP		33817413	12892570	170	22164											
LRRC74B	0	.	GRCh38	chr22	21047896	21047896	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcccagggcgcccgggctCtggcttcctcattgagctcc	3	10	12	16	2	2	1	1	1	1	0	5	1	5	1	4	3	1	3	4	3	0	2	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.295C>G	p.Leu99Val	p.L99V	ENST00000442047	3/9	160	128	32	126	125	1	strelka-varscan-mutect	LRRC74B,missense_variant,p.Leu99Val,ENST00000442047,NM_001291006.1;AC002472.11,downstream_gene_variant,,ENST00000450652,;P2RX6P,upstream_gene_variant,,ENST00000439119,;LRRC74B,non_coding_transcript_exon_variant,,ENST00000497328,;LRRC74B,non_coding_transcript_exon_variant,,ENST00000473769,;P2RX6P,upstream_gene_variant,,ENST00000450626,;	G	ENST00000442047	Transcript	missense_variant	295/1179	295/1179	99/392	L/V	Ctg/Gtg		1		1	LRRC74B	HGNC	HGNC:34301	protein_coding	YES	CCDS77654.1	ENSP00000394078	Q6ZQY2		UPI000436DF24	NM_001291006.1	deleterious(0)		3/9		Gene3D:3.80.10.10,hmmpanther:PTHR24114,hmmpanther:PTHR24114:SF21,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	69	21047896	21047896	C	G	1	0	0	0	0	1	0	0	0	8922	912	32	4		4	LRRC74B	22	21047896	Missense_Mutation	SNP	C	C3N-01023_TP		21047896	29770572	171	22165											
GAS2L1	0	.	GRCh38	chr22	29308489	29308489	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgagactgaggacctggtGctgcgcaagaacgagaagag	12	7	15	7	2	0	5	0	2	0	4	0	8	0	6	1	2	3	2	1	2	3	1	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.384G>T	p.=	p.V128V	ENST00000618518	1/5	117	102	15	105	105	0	strelka-varscan-mutect	GAS2L1,synonymous_variant,p.=,ENST00000618518,;GAS2L1,synonymous_variant,p.=,ENST00000616432,;GAS2L1,synonymous_variant,p.=,ENST00000621062,NM_006478.4;GAS2L1,synonymous_variant,p.=,ENST00000611648,NM_152236.2;GAS2L1,synonymous_variant,p.=,ENST00000610653,;GAS2L1,synonymous_variant,p.=,ENST00000406549,NM_001278730.1;GAS2L1,synonymous_variant,p.=,ENST00000416823,;GAS2L1,synonymous_variant,p.=,ENST00000428622,;RASL10A,downstream_gene_variant,,ENST00000401450,;RASL10A,downstream_gene_variant,,ENST00000216101,NM_006477.4;GAS2L1,upstream_gene_variant,,ENST00000491016,;GAS2L1,downstream_gene_variant,,ENST00000487341,;	T	ENST00000618518	Transcript	synonymous_variant	1432/3382	384/2046	128/681	V	gtG/gtT		1		1	GAS2L1	HGNC	HGNC:16955	protein_coding	YES	CCDS74840.1	ENSP00000481012		A0A5E8	UPI0000073BD7				1/5		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF296,SMART_domains:SM00033,Superfamily_domains:SSF47576																	LOW		SNV	2			1										PASS		rs1281435641	.												T	2	4	69	29308489	29308489	G	T	1	0	0	0	0	0	0	0	1	6116	1306	46	2		2	GAS2L1	22	29308489	Silent	SNP	G	C3N-01023_TP	8260593	29308489	21509979	172	22166											
GAS2L1	0	.	GRCh38	chr22	29312426	29312426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccccgccgcccctccggaCccgcagagctggggacatgg	5	3	14	19	4	0	1	0	0	0	1	1	3	1	3	7	4	1	2	7	4	0	0	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.1975C>T	p.Pro659Ser	p.P659S	ENST00000618518	5/5	27	22	5	11	11	0	strelka-mutect	GAS2L1,missense_variant,p.Pro659Ser,ENST00000618518,;GAS2L1,missense_variant,p.Pro659Ser,ENST00000616432,;GAS2L1,missense_variant,p.Pro659Ser,ENST00000621062,NM_006478.4;GAS2L1,missense_variant,p.Pro659Ser,ENST00000611648,NM_152236.2;GAS2L1,missense_variant,p.Pro432Ser,ENST00000406549,NM_001278730.1;GAS2L1,downstream_gene_variant,,ENST00000610653,;RASL10A,downstream_gene_variant,,ENST00000401450,;RASL10A,downstream_gene_variant,,ENST00000216101,NM_006477.4;GAS2L1,downstream_gene_variant,,ENST00000416823,;GAS2L1,downstream_gene_variant,,ENST00000428622,;AC002059.10,downstream_gene_variant,,ENST00000608014,;RASL10A,downstream_gene_variant,,ENST00000608559,;RASL10A,downstream_gene_variant,,ENST00000474590,;GAS2L1,downstream_gene_variant,,ENST00000491016,;GAS2L1,downstream_gene_variant,,ENST00000487341,;	T	ENST00000618518	Transcript	missense_variant	3023/3382	1975/2046	659/681	P/S	Ccc/Tcc		1		1	GAS2L1	HGNC	HGNC:16955	protein_coding	YES	CCDS74840.1	ENSP00000481012		A0A5E8	UPI0000073BD7		deleterious_low_confidence(0)		5/5		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF296,Low_complexity_(Seg):seg																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	69	29312426	29312426	C	T	1	0	0	0	0	1	0	0	0	6116	507	18	3		3	GAS2L1	22	29312426	Missense_Mutation	SNP	C	C3N-01023_TP	3937	29312426	21506042	173	22167											
SFI1	0	.	GRCh38	chr22	31546876	31546876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagattttactatgagcaGcgattactacggaaggtctt	11	13	10	7	3	1	2	0	1	1	1	1	4	1	3	0	2	5	2	0	2	6	7	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.354G>T	p.Gln118His	p.Q118H	ENST00000400288	5/33	74	55	19	108	108	0	strelka-varscan-mutect	SFI1,missense_variant,p.Gln94His,ENST00000540643,NM_001258325.1;SFI1,missense_variant,p.Gln118His,ENST00000432498,NM_014775.3;SFI1,missense_variant,p.Gln118His,ENST00000400288,NM_001007467.2;SFI1,missense_variant,p.Gln36His,ENST00000400289,NM_001258326.1,NM_001258327.1;SFI1,missense_variant,p.Gln36His,ENST00000443011,;SFI1,intron_variant,,ENST00000450787,;SFI1,missense_variant,p.Gln118His,ENST00000524296,;SFI1,non_coding_transcript_exon_variant,,ENST00000382162,;SFI1,non_coding_transcript_exon_variant,,ENST00000486708,;	T	ENST00000400288	Transcript	missense_variant	459/4002	354/3729	118/1242	Q/H	caG/caT		1		1	SFI1	HGNC	HGNC:29064	protein_coding	YES	CCDS43004.1	ENSP00000383145	A8K8P3		UPI00004703B1	NM_001007467.2	deleterious(0.02)		5/33		hmmpanther:PTHR22028,hmmpanther:PTHR22028:SF4																	MODERATE	1	SNV	2			1										PASS		rs1189767324	.												T	3	4	69	31546876	31546876	G	T	1	0	0	0	0	1	0	0	0	14434	962	34	2		2	SFI1	22	31546876	Missense_Mutation	SNP	G	C3N-01023_TP	2234450	31546876	19271592	174	22168											
CACNG2	0	.	GRCh38	chr22	36564743	36564743	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgcaccgccagcacccCgaccatctcggcgatgatga	9	6	10	16	4	1	2	0	2	1	0	2	4	1	2	5	1	2	2	5	1	0	0	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.580G>T	p.Gly194Trp	p.G194W	ENST00000300105	4/4	690	582	108	516	515	1	strelka-varscan-mutect	CACNG2,missense_variant,p.Gly194Trp,ENST00000300105,NM_006078.3;RP5-1119A7.17,upstream_gene_variant,,ENST00000562756,;	A	ENST00000300105	Transcript	missense_variant	1562/2384	580/972	194/323	G/W	Ggg/Tgg		1		-1	CACNG2	HGNC	HGNC:1406	protein_coding	YES	CCDS13931.1	ENSP00000300105	Q9Y698		UPI00001272AC	NM_006078.3	deleterious(0)		4/4		Pfam_domain:PF00822,Prints_domain:PR01792,hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF1,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	36564743	36564743	C	A	1	0	0	0	0	1	0	0	0	2245	652	23	1		1	CACNG2	22	36564743	Missense_Mutation	SNP	C	C3N-01023_TP	5017867	36564743	14253725	175	22169											
PICK1	0	.	GRCh38	chr22	38070867	38070867	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaagaggctagaggagctgGagcggaccgctgagctatac	11	6	15	9	2	1	3	1	1	0	2	1	6	1	6	1	4	4	4	1	4	4	3	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.469G>T	p.Glu157Ter	p.E157*	ENST00000404072	7/13	428	366	62	334	334	0	strelka-varscan-mutect	PICK1,stop_gained,p.Glu157Ter,ENST00000404072,NM_001039584.1,NM_001039583.1;PICK1,stop_gained,p.Glu157Ter,ENST00000356976,NM_012407.3;PICK1,stop_gained,p.Glu157Ter,ENST00000424694,;PICK1,downstream_gene_variant,,ENST00000435166,;PICK1,downstream_gene_variant,,ENST00000437453,;RP5-1039K5.13,intron_variant,,ENST00000445483,;PICK1,non_coding_transcript_exon_variant,,ENST00000468288,;PICK1,3_prime_UTR_variant,,ENST00000432756,;PICK1,3_prime_UTR_variant,,ENST00000426258,;PICK1,non_coding_transcript_exon_variant,,ENST00000484021,;PICK1,non_coding_transcript_exon_variant,,ENST00000494434,;PICK1,non_coding_transcript_exon_variant,,ENST00000472724,;PICK1,downstream_gene_variant,,ENST00000466374,;	T	ENST00000404072	Transcript	stop_gained	816/2164	469/1248	157/415	E/*	Gag/Tag		1		1	PICK1	HGNC	HGNC:9394	protein_coding	YES	CCDS13965.1	ENSP00000385205	Q9NRD5	A0A024R1J5	UPI0000131A98	NM_001039584.1,NM_001039583.1			7/13		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50870,hmmpanther:PTHR12141:SF1,hmmpanther:PTHR12141,Pfam_domain:PF06456,Gene3D:1.20.1270.60,SMART_domains:SM01015,Superfamily_domains:SSF103657																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	69	38070867	38070867	G	T	1	0	0	0	0	0	1	0	0	11971	1175	41	2		2	PICK1	22	38070867	Nonsense_Mutation	SNP	G	C3N-01023_TP	1506124	38070867	12747601	176	22170											
TCF20	0	.	GRCh38	chr22	42211614	42211614	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagcataacactaccaggtTtggatgactgtgtagcctca	11	11	9	10	0	2	1	2	1	0	0	2	2	2	2	2	2	4	3	2	2	3	4	novel		C3N-01023_TP	C3N-01023_NB	T	T																c.3692A>T	p.Lys1231Ile	p.K1231I	ENST00000359486	1/5	275	232	43	220	219	1	strelka-varscan-mutect	TCF20,missense_variant,p.Lys1231Ile,ENST00000359486,NM_005650.2;TCF20,missense_variant,p.Lys1231Ile,ENST00000335626,NM_181492.2;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;	A	ENST00000359486	Transcript	missense_variant	3829/7410	3692/5883	1231/1960	K/I	aAa/aTa		1		-1	TCF20	HGNC	HGNC:11631	protein_coding	YES	CCDS14033.1	ENSP00000352463	Q9UGU0	W5ZR30	UPI00001A95D9	NM_005650.2	deleterious_low_confidence(0)		1/5		hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	42211614	42211614	T	A	1	0	0	0	0	1	0	0	0	16097	1841	64	4		4	TCF20	22	42211614	Missense_Mutation	SNP	T	C3N-01023_TP	4140747	42211614	8606854	177	22171											
KIAA0930	0	.	GRCh38	chr22	45203872	45203872	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacaccttcttgagcgcCtcgtagcggatggagccctg	7	10	11	13	3	2	1	1	1	1	0	3	3	2	3	3	2	4	1	3	2	2	4	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.645G>T	p.Glu215Asp	p.E215D	ENST00000251993	6/10	210	172	38	186	186	0	strelka-mutect	KIAA0930,missense_variant,p.Glu210Asp,ENST00000336156,NM_001009880.1;KIAA0930,missense_variant,p.Glu215Asp,ENST00000251993,NM_015264.1;KIAA0930,missense_variant,p.Glu176Asp,ENST00000391627,;KIAA0930,missense_variant,p.Glu95Asp,ENST00000423262,;KIAA0930,downstream_gene_variant,,ENST00000424508,;KIAA0930,downstream_gene_variant,,ENST00000414854,;MIR1249,upstream_gene_variant,,ENST00000408671,;KIAA0930,upstream_gene_variant,,ENST00000474515,;KIAA0930,upstream_gene_variant,,ENST00000493003,;KIAA0930,downstream_gene_variant,,ENST00000486640,;KIAA0930,3_prime_UTR_variant,,ENST00000440039,;KIAA0930,non_coding_transcript_exon_variant,,ENST00000488038,;KIAA0930,upstream_gene_variant,,ENST00000498418,;KIAA0930,downstream_gene_variant,,ENST00000417906,;	A	ENST00000251993	Transcript	missense_variant	790/2723	645/1230	215/409	E/D	gaG/gaT		1		-1	KIAA0930	HGNC	HGNC:1314	protein_coding	YES	CCDS33666.1	ENSP00000251993	Q6ICG6		UPI00001C0A16	NM_015264.1	tolerated(0.37)		6/10		Pfam_domain:PF09741,hmmpanther:PTHR21477,hmmpanther:PTHR21477:SF13																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	69	45203872	45203872	C	A	1	0	0	0	0	1	0	0	0	8096	680	24	2		2	KIAA0930	22	45203872	Missense_Mutation	SNP	C	C3N-01023_TP	2992258	45203872	5614596	178	22172											
GTSE1	0	.	GRCh38	chr22	46328713	46328713	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaacaagggagagcaacAgaaagacagattccaggctg	18	3	11	9	0	0	4	0	0	0	4	1	5	1	4	2	2	4	2	2	2	5	1	novel		C3N-01023_TP	C3N-01023_NB	A	A																c.1750A>T	p.Arg584Ter	p.R584*	ENST00000454366	10/12	111	89	22	105	105	0	strelka-varscan-mutect	GTSE1,stop_gained,p.Arg584Ter,ENST00000454366,NM_016426.6;TRMU,upstream_gene_variant,,ENST00000476901,;TRMU,upstream_gene_variant,,ENST00000486620,;GTSE1,non_coding_transcript_exon_variant,,ENST00000479645,;GTSE1,downstream_gene_variant,,ENST00000466510,;GTSE1,upstream_gene_variant,,ENST00000491863,;	T	ENST00000454366	Transcript	stop_gained	1962/3112	1750/2220	584/739	R/*	Aga/Tga		1		1	GTSE1	HGNC	HGNC:13698	protein_coding	YES	CCDS14074.2	ENSP00000415430	Q9NYZ3		UPI000021D19B	NM_016426.6			10/12		hmmpanther:PTHR21584,hmmpanther:PTHR21584:SF10																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	69	46328713	46328713	A	T	1	0	0	0	0	0	1	0	0	6766	180	7	4		4	GTSE1	22	46328713	Nonsense_Mutation	SNP	A	C3N-01023_TP	1124841	46328713	4489755	179	22173											
FRMPD4	0	.	GRCh38	chrX	12717590	12717590	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgactgagagttctgaaCtggccacagcacaaaaacag	17	6	9	9	0	1	3	0	3	1	1	1	4	1	3	1	1	3	2	1	1	4	1	novel		C3N-01023_TP	C3N-01023_NB	C	C																c.2764C>A	p.Leu922Met	p.L922M	ENST00000380682	16/17	126	61	65	103	103	0	strelka-varscan-mutect	FRMPD4,missense_variant,p.Leu922Met,ENST00000380682,NM_014728.3;FRMPD4,missense_variant,p.Leu882Met,ENST00000616992,;	A	ENST00000380682	Transcript	missense_variant	3270/8465	2764/3969	922/1322	L/M	Ctg/Atg		1		1	FRMPD4	HGNC	HGNC:29007	protein_coding	YES	CCDS35201.1	ENSP00000370057	Q14CM0		UPI00001C2066	NM_014728.3	tolerated(0.3)		16/17																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	69	12717590	12717590	C	A	1	0	0	0	0	1	0	0	0	5930	564	20	2		2	FRMPD4	23	12717590	Missense_Mutation	SNP	C	C3N-01023_TP		12717590	143323305	180	22174											
CAPN6	0	.	GRCh38	chrX	111251072	111251072	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggcagacattcagtttgtGaaagttgcggcaaaagtcct	11	10	12	8	2	1	2	1	1	0	1	2	2	2	2	1	2	1	4	1	2	3	3	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.1003C>G	p.His335Asp	p.H335D	ENST00000324068	8/13	115	67	48	70	70	0	strelka-varscan-mutect	CAPN6,missense_variant,p.His335Asp,ENST00000324068,NM_014289.3;	C	ENST00000324068	Transcript	missense_variant	1171/3568	1003/1926	335/641	H/D	Cac/Gac		1		-1	CAPN6	HGNC	HGNC:1483	protein_coding	YES	CCDS14555.1	ENSP00000317214	Q9Y6Q1		UPI0000126EA1	NM_014289.3	deleterious(0.02)		8/13		PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF281,hmmpanther:PTHR10183,Pfam_domain:PF00648,Gene3D:3.90.70.10,SMART_domains:SM00230,Superfamily_domains:SSF54001,Prints_domain:PR00704																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	69	111251072	111251072	G	C	1	0	0	0	0	1	0	0	0	2324	1290	45	4		4	CAPN6	23	111251072	Missense_Mutation	SNP	G	C3N-01023_TP	98533482	111251072	44789823	181	22175											
ZCCHC16	0	.	GRCh38	chrX	112455545	112455545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccccagccaaacgagccCgccagcaagaaactcagttg	13	4	8	16	2	2	1	2	0	0	1	2	2	2	1	5	0	5	2	5	0	3	1	rs745929651		C3N-01023_TP	C3N-01023_NB	C	C																c.817C>T	p.Arg273Cys	p.R273C	ENST00000340433	1/1	133	86	47	92	92	0	strelka-varscan-mutect	ZCCHC16,missense_variant,p.Arg273Cys,ENST00000340433,NM_001004308.2;	T	ENST00000340433	Transcript	missense_variant	1046/2613	817/933	273/310	R/C	Cgc/Tgc	rs745929651,COSM4791449	1		1	ZCCHC16	HGNC	HGNC:25214	protein_coding	YES	CCDS35369.1	ENSP00000340590	Q6ZR62		UPI00001975B5	NM_001004308.2	deleterious(0.02)		1/1		hmmpanther:PTHR15503:SF8,hmmpanther:PTHR15503,Superfamily_domains:SSF57756											0,1						MODERATE	1	SNV			0,1	1										PASS		rs745929651	.												T	3	4	69	112455545	112455545	C	T	1	0	0	0	0	1	0	0	0	18159	652	23	1		1	ZCCHC16	23	112455545	Missense_Mutation	SNP	C	C3N-01023_TP	1204473	112455545	43585350	182	22176											
SLITRK4	0	.	GRCh38	chrX	143630250	143630250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgggtagtgtgaccattggGagtggtgtagccattttcca	7	14	14	6	0	0	1	0	1	0	0	1	2	1	2	3	3	1	2	3	3	2	6	novel		C3N-01023_TP	C3N-01023_NB	G	G																c.859C>A	p.Pro287Thr	p.P287T	ENST00000596188	2/2	130	70	60	106	104	2	strelka-varscan-mutect	SLITRK4,missense_variant,p.Pro287Thr,ENST00000596188,NM_001184750.2;SLITRK4,missense_variant,p.Pro287Thr,ENST00000338017,NM_173078.4;SLITRK4,missense_variant,p.Pro287Thr,ENST00000356928,NM_001184749.2;	T	ENST00000596188	Transcript	missense_variant	1085/8545	859/2514	287/837	P/T	Ccc/Acc		1		-1	SLITRK4	HGNC	HGNC:23502	protein_coding	YES	CCDS14679.1	ENSP00000469205	Q8IW52		UPI000004E650	NM_001184750.2	tolerated(0.08)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	69	143630250	143630250	G	T	1	0	0	0	0	1	0	0	0	15036	1174	41	2		2	SLITRK4	23	143630250	Missense_Mutation	SNP	G	C3N-01023_TP	31174705	143630250	12410645	183	22177											
AGRN	0	.	GRCh38	chr1	1051335	1051335	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagctggcccgtgctgctgCcgtgtcctctggcttcgacg	3	10	13	15	4	1	0	0	0	1	0	3	1	2	0	3	2	4	4	3	2	1	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.5336C>G	p.Ala1779Gly	p.A1779G	ENST00000379370	31/36	204	147	57	173	173	0	strelka-varscan-mutect	AGRN,missense_variant,p.Ala1645Gly,ENST00000620552,NM_001305275.1;AGRN,missense_variant,p.Ala1779Gly,ENST00000379370,NM_198576.3;AGRN,missense_variant,p.Ala82Gly,ENST00000419249,;RP11-54O7.14,upstream_gene_variant,,ENST00000418300,;AGRN,upstream_gene_variant,,ENST00000461111,;AGRN,downstream_gene_variant,,ENST00000492947,;AGRN,downstream_gene_variant,,ENST00000479707,;AGRN,downstream_gene_variant,,ENST00000466223,;AGRN,downstream_gene_variant,,ENST00000478677,;	G	ENST00000379370	Transcript	missense_variant	5386/7323	5336/6138	1779/2045	A/G	gCc/gGc		1		1	AGRN	HGNC	HGNC:329	protein_coding	YES	CCDS30551.1	ENSP00000368678	O00468		UPI00001D7C8B	NM_198576.3	tolerated(0.3)		31/36		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF288,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	1051335	1051335	C	G	1	0	0	0	0	1	0	0	0	476	739	26	4		4	AGRN	1	1051335	Missense_Mutation	SNP	C	C3N-01030_TP		1051335	247905087	1	22178											
ATAD3C	0	.	GRCh38	chr1	1455881	1455881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggcacatcctgctgtacGggccaccaggcaccgggaag	10	4	13	14	2	0	0	0	0	0	0	1	1	1	1	4	4	2	4	4	4	2	1	rs535257873		C3N-01030_TP	C3N-01030_NB	G	G																c.529G>T	p.Gly177Trp	p.G177W	ENST00000378785	6/12	232	211	21	218	217	1	varscan-mutect	ATAD3C,missense_variant,p.Gly177Trp,ENST00000378785,NM_001039211.2;ATAD3C,missense_variant,p.Gly125Trp,ENST00000475091,;	T	ENST00000378785	Transcript	missense_variant	1524/3859	529/1236	177/411	G/W	Ggg/Tgg	rs535257873	1		1	ATAD3C	HGNC	HGNC:32151	protein_coding	YES	CCDS44039.1	ENSP00000368062	Q5T2N8		UPI00001619C0	NM_001039211.2	deleterious(0)		6/12		hmmpanther:PTHR23075:SF5,hmmpanther:PTHR23075,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		rs535257873	.												T	3	4	70	1455881	1455881	G	T	1	0	0	0	0	1	0	0	0	1223	1116	39	1		1	ATAD3C	1	1455881	Missense_Mutation	SNP	G	C3N-01030_TP	404546	1455881	247500541	2	22179											
TMEM201	0	.	GRCh38	chr1	9609843	9609843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctctctgtctccagactCcggctatctgttcagcggta	5	14	8	14	2	5	1	1	0	4	1	8	1	6	1	2	2	1	3	2	2	2	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1397C>T	p.Ser466Phe	p.S466F	ENST00000340381	8/11	133	117	16	153	153	0	strelka-mutect	TMEM201,missense_variant,p.Ser466Phe,ENST00000340381,NM_001130924.2;TMEM201,intron_variant,,ENST00000416541,;TMEM201,downstream_gene_variant,,ENST00000340305,NM_001010866.3;TMEM201,downstream_gene_variant,,ENST00000510900,;TMEM201,missense_variant,p.Ser23Phe,ENST00000508400,;	T	ENST00000340381	Transcript	missense_variant	1406/3776	1397/2001	466/666	S/F	tCc/tTc		1		1	TMEM201	HGNC	HGNC:33719	protein_coding	YES	CCDS44055.2	ENSP00000344503	Q5SNT2		UPI000022B297	NM_001130924.2	deleterious(0)		8/11		hmmpanther:PTHR28646																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	9609843	9609843	C	T	1	0	0	0	0	1	0	0	0	16565	869	30	3		3	TMEM201	1	9609843	Missense_Mutation	SNP	C	C3N-01030_TP	8153962	9609843	239346579	3	22180											
KIF1B	0	.	GRCh38	chr1	10304578	10304578	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccactgtagccagtttgtGacacctccgcggatgaggag	9	8	13	11	2	0	2	0	2	0	0	1	4	1	4	4	2	2	2	4	2	1	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.3393G>C	p.=	p.V1131V	ENST00000377093	21/21	127	113	14	155	155	0	strelka-varscan-mutect	KIF1B,synonymous_variant,p.=,ENST00000377093,NM_183416.3;KIF1B,synonymous_variant,p.=,ENST00000377083,;KIF1B,intron_variant,,ENST00000377086,;KIF1B,intron_variant,,ENST00000377081,;KIF1B,intron_variant,,ENST00000620295,;KIF1B,intron_variant,,ENST00000622724,;KIF1B,intron_variant,,ENST00000263934,NM_015074.3;RN7SL731P,upstream_gene_variant,,ENST00000584329,;	C	ENST00000377093	Transcript	synonymous_variant	3546/7565	3393/3462	1131/1153	V	gtG/gtC		1		1	KIF1B	HGNC	HGNC:16636	protein_coding		CCDS112.1	ENSP00000366297	O60333		UPI0000140CB8	NM_183416.3			21/21		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF322																	LOW		SNV	1			1										PASS		rs1186469668	.												C	2	2	70	10304578	10304578	G	C	1	0	0	0	0	0	0	0	1	8148	1277	45	4		4	KIF1B	1	10304578	Silent	SNP	G	C3N-01030_TP	694735	10304578	238651844	4	22181											
CORT	0	.	GRCh38	chr1	10451464	10451464	+	Frame_Shift_Del	DEL	G	G	-																															ggacctcccaggccagtgccGggcccctcataggagaggaa																								rs201158337		C3N-01030_TP	C3N-01030_NB	G	G																c.366delG	p.Leu124SerfsTer2	p.L124Sfs*2	ENST00000400900	5/5	192	162	30	161	161	0	sindel-varindel-pindel	APITD1-CORT,frameshift_variant,p.Leu124SerfsTer2,ENST00000400900,NM_198544.3;APITD1-CORT,frameshift_variant,p.Leu103SerfsTer2,ENST00000602296,NM_001243768.1;CORT,frameshift_variant,p.Leu65SerfsTer2,ENST00000377049,NM_001302.4;APITD1-CORT,3_prime_UTR_variant,,ENST00000470413,NM_199006.2;APITD1-CORT,3_prime_UTR_variant,,ENST00000465026,;APITD1-CORT,downstream_gene_variant,,ENST00000602787,NM_001270517.1;	-	ENST00000400900	Transcript	frameshift_variant	780/1469	364/495	122/164	G/X	Ggg/gg	rs201158337	1		1	APITD1-CORT	HGNC	HGNC:38843	protein_coding	YES	CCDS114.1	ENSP00000383692			UPI000007101C	NM_198544.3			5/5		hmmpanther:PTHR22980,hmmpanther:PTHR22980:SF4																	HIGH		deletion	2	2		1										PASS		.	.												-	7	5	70	10451464	10451464	G	-	1	0	1	0	1	0	0	0	0	3554	1116	39	0		0	CORT	1	10451464	Frame_Shift_Del	DEL	G	C3N-01030_TP	146886	10451464	238504958	5	22182											
MTHFR	0	.	GRCh38	chr1	11801318	11801318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcatcatggaggaggtCtccttgtctgagccagggtc	7	10	14	10	1	4	1	2	1	2	0	6	4	4	3	2	4	1	0	2	4	0	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.318G>T	p.Glu106Asp	p.E106D	ENST00000376592	2/11	365	285	80	345	345	0	strelka-varscan-mutect	MTHFR,missense_variant,p.Glu106Asp,ENST00000376592,;MTHFR,missense_variant,p.Glu147Asp,ENST00000376583,;MTHFR,missense_variant,p.Glu106Asp,ENST00000376590,NM_005957.4;MTHFR,missense_variant,p.Glu147Asp,ENST00000376585,;MTHFR,missense_variant,p.Glu106Asp,ENST00000418034,;CLCN6,upstream_gene_variant,,ENST00000312413,NM_001256959.1;CLCN6,upstream_gene_variant,,ENST00000346436,NM_001286.3;CLCN6,upstream_gene_variant,,ENST00000376496,;MTHFR,downstream_gene_variant,,ENST00000423400,;MTHFR,downstream_gene_variant,,ENST00000376486,;MTHFR,downstream_gene_variant,,ENST00000431243,;CLCN6,upstream_gene_variant,,ENST00000376497,;MTHFR,downstream_gene_variant,,ENST00000413656,;CLCN6,upstream_gene_variant,,ENST00000376492,;CLCN6,upstream_gene_variant,,ENST00000376490,;CLCN6,upstream_gene_variant,,ENST00000376491,;	A	ENST00000376592	Transcript	missense_variant	447/7057	318/1971	106/656	E/D	gaG/gaT		1		-1	MTHFR	HGNC	HGNC:7436	protein_coding	YES	CCDS137.1	ENSP00000365777	P42898		UPI0000141098		tolerated(0.21)		2/11		Gene3D:3.20.20.220,Pfam_domain:PF02219,Superfamily_domains:SSF51730,TIGRFAM_domain:TIGR00677																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	11801318	11801318	C	A	1	0	0	0	0	1	0	0	0	9920	912	32	2		2	MTHFR	1	11801318	Missense_Mutation	SNP	C	C3N-01030_TP	1349854	11801318	237155104	6	22183											
HNRNPCL1	0	.	GRCh38	chr1	12847545	12847545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccagtgggtccccctcctCagcagagtcttctgcacccc	6	9	8	18	0	3	1	1	0	2	1	6	1	6	1	6	1	2	2	6	1	0	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.745G>A	p.Glu249Lys	p.E249K	ENST00000317869	2/2	523	460	63	519	519	0	strelka-varscan-mutect	HNRNPCL1,missense_variant,p.Glu249Lys,ENST00000317869,NM_001013631.2;	T	ENST00000317869	Transcript	missense_variant	971/1108	745/882	249/293	E/K	Gag/Aag		1		-1	HNRNPCL1	HGNC	HGNC:29295	protein_coding	YES	CCDS30591.1	ENSP00000365370	O60812		UPI0000134525	NM_001013631.2	tolerated(0.05)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR13968:SF17,hmmpanther:PTHR13968,PIRSF_domain:PIRSF037992																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	12847545	12847545	C	T	1	0	0	0	0	1	0	0	0	7154	835	29	3		3	HNRNPCL1	1	12847545	Missense_Mutation	SNP	C	C3N-01030_TP	1046227	12847545	236108877	7	22184											
PRAMEF10	0	.	GRCh38	chr1	12893220	12893220	+	Missense_Mutation	SNP	C	C	T																															tggtgagctgggaacagtggCtcagggcaggcaggaggacc																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1121G>A	p.Ser374Asn	p.S374N	ENST00000235347	4/4	295	272	23	336	336	0	varscan-mutect	PRAMEF10,missense_variant,p.Ser374Asn,ENST00000235347,NM_001039361.4;	T	ENST00000235347	Transcript	missense_variant	1201/1525	1121/1425	374/474	S/N	aGc/aAc		1		-1	PRAMEF10	HGNC	HGNC:27997	protein_coding	YES	CCDS41255.1	ENSP00000235347	O60809		UPI000442CF00	NM_001039361.4	deleterious(0.03)		4/4		hmmpanther:PTHR14224:SF28,hmmpanther:PTHR14224,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	12893220	12893220	C	T	1	0	0	0	0	1	0	0	0	12555	797	28	3		3	PRAMEF10	1	12893220	Missense_Mutation	SNP	C	C3N-01030_TP	45675	12893220	236063202	8	22185	469	2									
PRAMEF10	0	.	GRCh38	chr1	12893230	12893230	+	Missense_Mutation	SNP	G	G	T																															ggaacagtggctcagggcagGcaggaggaccctgagttggg																								novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1111C>A	p.Pro371Thr	p.P371T	ENST00000235347	4/4	264	243	21	304	303	1	varscan-mutect	PRAMEF10,missense_variant,p.Pro371Thr,ENST00000235347,NM_001039361.4;	T	ENST00000235347	Transcript	missense_variant	1191/1525	1111/1425	371/474	P/T	Cct/Act		1		-1	PRAMEF10	HGNC	HGNC:27997	protein_coding	YES	CCDS41255.1	ENSP00000235347	O60809		UPI000442CF00	NM_001039361.4	deleterious(0)		4/4		hmmpanther:PTHR14224:SF28,hmmpanther:PTHR14224,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	12893230	12893230	G	T	1	0	0	0	0	1	0	0	0	12555	1203	42	2		2	PRAMEF10	1	12893230	Missense_Mutation	SNP	G	C3N-01030_TP	10	12893230	236063192	9	22186	469	2									
SPATA21	0	.	GRCh38	chr1	16409146	16409146	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcagggtcagttgctcCtcggacttctcccggttttg	3	15	11	12	2	3	0	2	0	1	0	6	1	4	1	2	3	2	4	2	3	0	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.645G>A	p.=	p.E215E	ENST00000335496	7/13	260	224	36	225	225	0	strelka-varscan-mutect	SPATA21,synonymous_variant,p.=,ENST00000335496,NM_198546.1;SPATA21,synonymous_variant,p.=,ENST00000540400,;SPATA21,non_coding_transcript_exon_variant,,ENST00000466212,;	T	ENST00000335496	Transcript	synonymous_variant	1128/2015	645/1410	215/469	E	gaG/gaA		1		-1	SPATA21	HGNC	HGNC:28026	protein_coding	YES	CCDS172.1	ENSP00000335612	Q7Z572		UPI00001B4B16	NM_198546.1			7/13		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10891:SF596,hmmpanther:PTHR10891,Gene3D:1.10.238.10																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	16409146	16409146	C	T	1	0	0	0	0	0	0	0	1	15337	680	24	3		3	SPATA21	1	16409146	Silent	SNP	C	C3N-01030_TP	3515916	16409146	232547276	10	22187											
EPHA8	0	.	GRCh38	chr1	22589005	22589005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgccgccgctgcccctggGcactgagccgctgcgaggca	4	6	15	16	4	0	1	0	1	0	0	0	2	0	1	5	2	4	4	5	2	0	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1114G>T	p.Ala372Ser	p.A372S	ENST00000166244	5/17	245	180	65	172	172	0	strelka-varscan-mutect	EPHA8,missense_variant,p.Ala372Ser,ENST00000166244,NM_020526.3;EPHA8,missense_variant,p.Ala372Ser,ENST00000374644,NM_001006943.1;	T	ENST00000166244	Transcript	missense_variant	1186/4943	1114/3018	372/1005	A/S	Gca/Tca		1		1	EPHA8	HGNC	HGNC:3391	protein_coding	YES	CCDS225.1	ENSP00000166244	P29322		UPI000012A07B	NM_020526.3	tolerated(0.47)		5/17		PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF339,hmmpanther:PTHR24416,Pfam_domain:PF00041,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	2			1										PASS		rs1250156610	.												T	3	4	70	22589005	22589005	G	T	1	0	0	0	0	1	0	0	0	5020	1203	42	2		2	EPHA8	1	22589005	Missense_Mutation	SNP	G	C3N-01030_TP	6179859	22589005	226367417	11	22188											
AIM1L	0	.	GRCh38	chr1	26345911	26345911	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgggcaggtgactggcAggggggctgtgcccagcagg	5	5	21	10	0	0	1	0	1	0	0	0	1	0	1	2	8	2	4	2	8	0	0	rs748928358		C3N-01030_TP	C3N-01030_NB	A	A																c.747T>C	p.=	p.P249P	ENST00000308182	2/20	84	72	12	92	92	0	strelka-varscan-mutect	AIM1L,synonymous_variant,p.=,ENST00000308182,NM_001039775.3;AIM1L,synonymous_variant,p.=,ENST00000475866,;AIM1L,upstream_gene_variant,,ENST00000527815,;AIM1L,intron_variant,,ENST00000374207,;	G	ENST00000308182	Transcript	synonymous_variant	897/5245	747/4986	249/1661	P	ccT/ccC	rs748928358	1		-1	AIM1L	HGNC	HGNC:17295	protein_coding	YES		ENSP00000310435	Q8N1P7		UPI0001DD21C3	NM_001039775.3			2/20																			LOW	1	SNV	5			1										PASS		rs748928358	.												G	2	3	70	26345911	26345911	A	G	1	0	0	0	0	0	0	0	1	508	175	7	5		5	AIM1L	1	26345911	Silent	SNP	A	C3N-01030_TP	3756906	26345911	222610511	12	22189											
MAP3K6	0	.	GRCh38	chr1	27360715	27360715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccgcacctgctgtcccGctccgggatctccttgatgg	4	9	11	17	4	1	1	0	1	1	0	4	2	3	2	5	2	1	4	5	2	0	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2044C>T	p.Arg682Trp	p.R682W	ENST00000493901	16/30	141	124	17	110	109	1	strelka-mutect	MAP3K6,missense_variant,p.Arg674Trp,ENST00000374040,NM_001297609.1;MAP3K6,missense_variant,p.Arg682Trp,ENST00000493901,NM_004672.4;MAP3K6,missense_variant,p.Arg682Trp,ENST00000357582,;MAP3K6,missense_variant,p.Arg406Trp,ENST00000472410,;MAP3K6,upstream_gene_variant,,ENST00000486046,;MAP3K6,upstream_gene_variant,,ENST00000470890,;MAP3K6,upstream_gene_variant,,ENST00000476509,;MAP3K6,upstream_gene_variant,,ENST00000495230,;	A	ENST00000493901	Transcript	missense_variant	2284/4309	2044/3867	682/1288	R/W	Cgg/Tgg		1		-1	MAP3K6	HGNC	HGNC:6858	protein_coding	YES	CCDS299.1	ENSP00000419591	O95382		UPI0000205587	NM_004672.4	deleterious(0)		16/30		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF391,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		rs888314478	.												A	3	1	70	27360715	27360715	G	A	1	0	0	0	0	1	0	0	0	9177	1086	38	1		1	MAP3K6	1	27360715	Missense_Mutation	SNP	G	C3N-01030_TP	1014804	27360715	221595707	13	22190											
FCN3	0	.	GRCh38	chr1	27374386	27374386	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggggctcccttctccccagGacttcctggagctccgggac	4	9	12	16	1	1	0	0	0	1	0	5	3	4	3	5	5	1	2	5	5	0	2	rs376437282		C3N-01030_TP	C3N-01030_NB	G	G																c.157C>G	p.Pro53Ala	p.P53A	ENST00000270879	2/8	93	65	28	91	91	0	strelka-varscan-mutect	FCN3,missense_variant,p.Pro53Ala,ENST00000270879,NM_003665.2;FCN3,missense_variant,p.Pro53Ala,ENST00000354982,NM_173452.1;CD164L2,downstream_gene_variant,,ENST00000374027,NM_207397.3;CD164L2,downstream_gene_variant,,ENST00000374030,;FCN3,non_coding_transcript_exon_variant,,ENST00000481748,;FCN3,upstream_gene_variant,,ENST00000498393,;	C	ENST00000270879	Transcript	missense_variant	163/1030	157/900	53/299	P/A	Cct/Gct	rs376437282	1		-1	FCN3	HGNC	HGNC:3625	protein_coding	YES	CCDS300.1	ENSP00000270879	O75636		UPI00000343FF	NM_003665.2	tolerated(0.15)		2/8		Low_complexity_(Seg):seg,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF215																	MODERATE	1	SNV	1			1										PASS		rs376437282	.												C	3	2	70	27374386	27374386	G	C	1	0	0	0	0	1	0	0	0	5656	1174	41	4		4	FCN3	1	27374386	Missense_Mutation	SNP	G	C3N-01030_TP	13671	27374386	221582036	14	22191											
IFI6	0	.	GRCh38	chr1	27668226	27668226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggccccgcactcacCgaggctctgcagcgtggcca	6	4	13	18	3	2	0	1	0	1	0	2	1	2	0	5	4	2	3	5	4	0	0	rs758060629		C3N-01030_TP	C3N-01030_NB	C	C																c.322G>T	p.Gly108Trp	p.G108W	ENST00000339145	4/5	76	55	21	56	56	0	strelka-varscan-mutect	IFI6,missense_variant,p.Gly100Trp,ENST00000361157,NM_002038.3;IFI6,missense_variant,p.Gly104Trp,ENST00000362020,NM_022872.2;IFI6,missense_variant,p.Gly108Trp,ENST00000339145,NM_022873.2;RP11-288L9.4,upstream_gene_variant,,ENST00000625232,;RP11-288L9.4,upstream_gene_variant,,ENST00000628586,;RP11-288L9.4,upstream_gene_variant,,ENST00000629895,;RP11-288L9.4,upstream_gene_variant,,ENST00000430683,;RP11-288L9.4,upstream_gene_variant,,ENST00000628584,;RP11-288L9.4,upstream_gene_variant,,ENST00000626608,;	A	ENST00000339145	Transcript	missense_variant,splice_region_variant	410/822	322/417	108/138	G/W	Ggg/Tgg	rs758060629,COSM534760	1		-1	IFI6	HGNC	HGNC:4054	protein_coding	YES	CCDS308.1	ENSP00000342513	P09912		UPI000002ABE5	NM_022873.2	deleterious(0)		4/5		Pfam_domain:PF06140,hmmpanther:PTHR16932,hmmpanther:PTHR16932:SF25											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs758060629	.												A	3	1	70	27668226	27668226	C	A	1	0	0	0	0	1	0	0	0	7419	666	23	1		1	IFI6	1	27668226	Missense_Mutation	SNP	C	C3N-01030_TP	293840	27668226	221288196	15	22192											
C1orf94	0	.	GRCh38	chr1	34197361	34197361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacccggcagctctcccgagGggaccagagagctggctccc	7	5	13	16	2	1	1	0	0	1	1	3	4	2	2	4	4	3	4	4	4	1	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.457G>T	p.Gly153Trp	p.G153W	ENST00000488417	2/7	155	136	19	133	133	0	strelka-varscan-mutect	C1orf94,missense_variant,p.Gly153Trp,ENST00000488417,NM_001134734.1;C1orf94,5_prime_UTR_variant,,ENST00000373374,NM_032884.4;	T	ENST00000488417	Transcript	missense_variant	577/2287	457/1797	153/598	G/W	Ggg/Tgg		1		1	C1orf94	HGNC	HGNC:28250	protein_coding	YES	CCDS44108.1	ENSP00000435634	Q6P1W5		UPI0000D4BFB0	NM_001134734.1	tolerated(0.06)		2/7		hmmpanther:PTHR35674,hmmpanther:PTHR35674:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	34197361	34197361	G	T	1	0	0	0	0	1	0	0	0	2000	1232	43	2		2	C1orf94	1	34197361	Missense_Mutation	SNP	G	C3N-01030_TP	6529135	34197361	214759061	16	22193											
MRPS15	0	.	GRCh38	chr1	36455846	36455846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctgtctgggttcctcCgctttgcttgtttttgggct	1	17	13	10	1	1	0	0	0	1	0	3	0	3	0	2	3	1	6	2	3	0	5	rs776496972		C3N-01030_TP	C3N-01030_NB	C	C																c.716G>C	p.Arg239Pro	p.R239P	ENST00000373116	8/8	245	214	31	245	245	0	strelka-varscan-mutect	MRPS15,missense_variant,p.Arg239Pro,ENST00000373116,NM_031280.3;MRPS15,non_coding_transcript_exon_variant,,ENST00000488606,;MRPS15,non_coding_transcript_exon_variant,,ENST00000462067,;MRPS15,non_coding_transcript_exon_variant,,ENST00000477040,;	G	ENST00000373116	Transcript	missense_variant	878/1006	716/774	239/257	R/P	cGg/cCg	rs776496972,COSM4007495	1		-1	MRPS15	HGNC	HGNC:14504	protein_coding	YES	CCDS411.1	ENSP00000362208	P82914		UPI0000135287	NM_031280.3	deleterious(0.04)		8/8		Low_complexity_(Seg):seg,hmmpanther:PTHR23321											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs776496972	.												G	3	3	70	36455846	36455846	C	G	1	0	0	0	0	1	0	0	0	9802	652	23	4		4	MRPS15	1	36455846	Missense_Mutation	SNP	C	C3N-01030_TP	2258485	36455846	212500576	17	22194											
SMAP2	0	.	GRCh38	chr1	40408721	40408721	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatcttcctgagacctttcgGcgacctcagatagacccgta	9	11	8	13	3	2	3	1	1	1	3	4	5	3	3	4	1	0	1	4	1	3	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.306G>T	p.=	p.R102R	ENST00000372718	3/10	139	114	25	142	142	0	strelka-varscan-mutect	SMAP2,synonymous_variant,p.=,ENST00000372718,NM_022733.2;SMAP2,synonymous_variant,p.=,ENST00000614549,NM_001198979.1;SMAP2,synonymous_variant,p.=,ENST00000539317,NM_001198980.1;SMAP2,synonymous_variant,p.=,ENST00000372708,NM_001198978.1;SMAP2,synonymous_variant,p.=,ENST00000435168,;	T	ENST00000372718	Transcript	synonymous_variant	730/2939	306/1290	102/429	R	cgG/cgT		1		1	SMAP2	HGNC	HGNC:25082	protein_coding	YES	CCDS451.1	ENSP00000361803	Q8WU79		UPI000006DD04	NM_022733.2			3/10		Pfam_domain:PF01412,PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF29,SMART_domains:SM00105,Superfamily_domains:SSF57863																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	40408721	40408721	G	T	1	0	0	0	0	0	0	0	1	15060	1190	42	2		2	SMAP2	1	40408721	Silent	SNP	G	C3N-01030_TP	3952875	40408721	208547701	18	22195											
HIVEP3	0	.	GRCh38	chr1	41513043	41513043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatctggggaggcctgggtCggtggtaccctcgagtttgg	4	11	18	8	2	1	0	0	0	1	0	3	2	1	1	2	7	1	3	2	7	2	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.6178G>T	p.Asp2060Tyr	p.D2060Y	ENST00000372583	8/9	97	70	27	108	108	0	strelka-varscan-mutect	HIVEP3,missense_variant,p.Asp2060Tyr,ENST00000372584,NM_001127714.2;HIVEP3,missense_variant,p.Asp2060Tyr,ENST00000372583,NM_024503.4;HIVEP3,non_coding_transcript_exon_variant,,ENST00000460604,;	A	ENST00000372583	Transcript	missense_variant	7064/12193	6178/7221	2060/2406	D/Y	Gac/Tac		1		-1	HIVEP3	HGNC	HGNC:13561	protein_coding	YES	CCDS463.1	ENSP00000361664	Q5T1R4		UPI000013CC24	NM_024503.4	deleterious_low_confidence(0.01)		8/9		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50																	MODERATE	1	SNV	1			1										PASS		rs1179896477	.												A	3	1	70	41513043	41513043	C	A	1	0	0	0	0	1	0	0	0	7077	884	31	1		1	HIVEP3	1	41513043	Missense_Mutation	SNP	C	C3N-01030_TP	1104322	41513043	207443379	19	22196											
STIL	0	.	GRCh38	chr1	47269788	47269788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaaattcatgtcctcactgGaaattttggtatcatcttgc	12	15	6	8	0	4	0	3	0	1	0	5	1	5	1	1	2	1	1	1	2	4	5	rs867802549		C3N-01030_TP	C3N-01030_NB	G	G																c.2462C>T	p.Ser821Phe	p.S821F	ENST00000371877	14/17	177	156	21	268	268	0	strelka-varscan-mutect	STIL,missense_variant,p.Ser821Phe,ENST00000360380,NM_001282936.1,NM_003035.2;STIL,missense_variant,p.Ser774Phe,ENST00000337817,NM_001282939.1,NM_001282938.1;STIL,missense_variant,p.Ser821Phe,ENST00000371877,NM_001048166.1;STIL,missense_variant,p.Ser821Phe,ENST00000396221,NM_001282937.1;STIL,missense_variant,p.Ser774Phe,ENST00000447475,;STIL,missense_variant,p.Ser161Phe,ENST00000436811,;STIL,non_coding_transcript_exon_variant,,ENST00000418131,;	A	ENST00000371877	Transcript	missense_variant	2610/5009	2462/3867	821/1288	S/F	tCc/tTc	rs867802549,COSM3490535	1		-1	STIL	HGNC	HGNC:10879	protein_coding	YES	CCDS41329.1	ENSP00000360944	Q15468		UPI00002042D5	NM_001048166.1	deleterious(0)		14/17		hmmpanther:PTHR15128,hmmpanther:PTHR15128:SF0											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs867802549	.												A	3	1	70	47269788	47269788	G	A	1	0	0	0	0	1	0	0	0	15659	1174	41	3		3	STIL	1	47269788	Missense_Mutation	SNP	G	C3N-01030_TP	5756745	47269788	201686634	20	22197											
ORC1	0	.	GRCh38	chr1	52373325	52373325	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatggtctctgacatggtGgggtacggcagtccctccat	6	10	13	12	1	1	1	0	1	1	0	4	1	3	1	3	5	1	2	3	5	1	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2442C>T	p.=	p.P814P	ENST00000371568	17/17	192	148	44	214	214	0	strelka-varscan-mutect	ORC1,synonymous_variant,p.=,ENST00000371568,NM_004153.3,NM_001190818.1,NM_001190819.1;ORC1,synonymous_variant,p.=,ENST00000371566,;PLA2G12AP1,downstream_gene_variant,,ENST00000497678,;	A	ENST00000371568	Transcript	synonymous_variant	2661/3157	2442/2586	814/861	P	ccC/ccT		1		-1	ORC1	HGNC	HGNC:8487	protein_coding	YES	CCDS566.1	ENSP00000360623	Q13415		UPI000013D2FB	NM_004153.3,NM_001190818.1,NM_001190819.1			17/17		Gene3D:1.10.10.10,Pfam_domain:PF09079,hmmpanther:PTHR10763,hmmpanther:PTHR10763:SF23,SMART_domains:SM01074																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	52373325	52373325	G	A	1	0	0	0	0	0	0	0	1	11327	1335	47	3		3	ORC1	1	52373325	Silent	SNP	G	C3N-01030_TP	5103537	52373325	196583097	21	22198											
C1orf168	0	.	GRCh38	chr1	56751063	56751063	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggccttgggagtgcctGgccagctttgggccctcagg	4	9	16	12	0	1	0	1	0	0	0	1	1	1	1	4	5	2	1	4	5	0	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1368C>A	p.=	p.A456A	ENST00000343433	9/20	104	94	10	135	135	0	strelka-varscan-mutect	C1orf168,synonymous_variant,p.=,ENST00000343433,NM_001004303.4;C1orf168,non_coding_transcript_exon_variant,,ENST00000484327,;C1orf168,non_coding_transcript_exon_variant,,ENST00000493000,;	T	ENST00000343433	Transcript	synonymous_variant	1449/3135	1368/2187	456/728	A	gcC/gcA		1		-1	C1orf168	HGNC	HGNC:27295	protein_coding	YES	CCDS30729.1	ENSP00000345972	Q5VWT5		UPI000022AE5B	NM_001004303.4			9/20		hmmpanther:PTHR16830,hmmpanther:PTHR16830:SF1																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	56751063	56751063	G	T	1	0	0	0	0	0	0	0	1	1973	1335	47	2		2	C1orf168	1	56751063	Silent	SNP	G	C3N-01030_TP	4377738	56751063	192205359	22	22199											
OMA1	0	.	GRCh38	chr1	58534193	58534193	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attaataattggggaatcaaCcacatgaataacccaattga	18	10	6	7	0	1	2	1	2	0	0	1	3	1	3	2	2	2	0	2	2	7	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.868G>T	p.Val290Phe	p.V290F	ENST00000371226	4/9	157	138	19	230	230	0	strelka-varscan-mutect	OMA1,missense_variant,p.Val132Phe,ENST00000421528,;OMA1,missense_variant,p.Val290Phe,ENST00000371226,NM_145243.4;OMA1,missense_variant,p.Val290Phe,ENST00000456980,;OMA1,downstream_gene_variant,,ENST00000419242,;OMA1,downstream_gene_variant,,ENST00000426139,;OMA1,downstream_gene_variant,,ENST00000453710,;OMA1,downstream_gene_variant,,ENST00000482274,;OMA1,non_coding_transcript_exon_variant,,ENST00000467063,;DAB1,intron_variant,,ENST00000485760,;OMA1,upstream_gene_variant,,ENST00000476933,;OMA1,upstream_gene_variant,,ENST00000467509,;	A	ENST00000371226	Transcript	missense_variant	982/1935	868/1575	290/524	V/F	Gtt/Ttt		1		-1	OMA1	HGNC	HGNC:29661	protein_coding	YES	CCDS608.1	ENSP00000360270	Q96E52		UPI000006D0C6	NM_145243.4	deleterious(0)		4/9		hmmpanther:PTHR22726,hmmpanther:PTHR22726:SF1,Gene3D:3cqbA01,Pfam_domain:PF01435																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	58534193	58534193	C	A	1	0	0	0	0	1	0	0	0	10939	507	18	2		2	OMA1	1	58534193	Missense_Mutation	SNP	C	C3N-01030_TP	1783130	58534193	190422229	23	22200											
RPE65	0	.	GRCh38	chr1	68431477	68431477	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctagatcatctcaccttgacGaggccctgaaaagagaactt	13	9	8	11	1	2	4	2	2	1	2	3	6	2	4	2	1	1	0	2	1	4	3	rs369142161		C3N-01030_TP	C3N-01030_NB	G	G																c.1237C>G	p.Arg413Gly	p.R413G	ENST00000262340	11/14	392	341	51	454	453	1	strelka-varscan-mutect	RPE65,missense_variant,p.Arg413Gly,ENST00000262340,NM_000329.2;	C	ENST00000262340	Transcript	missense_variant	1291/2610	1237/1602	413/533	R/G	Cgt/Ggt	rs369142161	1		-1	RPE65	HGNC	HGNC:10294	protein_coding	YES	CCDS643.1	ENSP00000262340	Q16518		UPI000004346C	NM_000329.2	tolerated(0.32)		11/14		Pfam_domain:PF03055,hmmpanther:PTHR10543,hmmpanther:PTHR10543:SF43																	MODERATE	1	SNV	1			1										PASS		rs369142161	.												C	3	2	70	68431477	68431477	G	C	1	0	0	0	0	1	0	0	0	13796	1058	37	4		4	RPE65	1	68431477	Missense_Mutation	SNP	G	C3N-01030_TP	9897284	68431477	180524945	24	22201											
LRRC7	0	.	GRCh38	chr1	70016532	70016532	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtggctttctgacaatCaggtaaaaggttttattgcc	9	16	9	7	0	2	1	1	1	1	0	2	1	2	1	1	3	1	3	1	3	4	6	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1204C>A	p.Gln402Lys	p.Q402K	ENST00000035383	12/25	42	30	12	68	68	0	strelka-varscan-mutect	LRRC7,missense_variant,p.Gln407Lys,ENST00000310961,;LRRC7,missense_variant,p.Gln402Lys,ENST00000035383,NM_020794.2;LRRC7,splice_region_variant,,ENST00000415775,;RP11-181B18.1,intron_variant,,ENST00000414132,;RP11-181B18.1,downstream_gene_variant,,ENST00000425754,;	A	ENST00000035383	Transcript	missense_variant,splice_region_variant	1234/5000	1204/4614	402/1537	Q/K	Cag/Aag		1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2	deleterious(0)		12/25		PROSITE_profiles:PS51450,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00365,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	70016532	70016532	C	A	1	0	0	0	0	1	0	0	0	8916	840	29	2		2	LRRC7	1	70016532	Missense_Mutation	SNP	C	C3N-01030_TP	1585055	70016532	178939890	25	22202											
FPGT	0	.	GRCh38	chr1	74198303	74198303	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagctgctagggaccctccgGaagtatcgctgcgagaagcc	9	6	13	13	3	0	1	0	0	0	1	2	4	1	3	3	2	4	4	3	2	4	2	rs755449906		C3N-01030_TP	C3N-01030_NB	G	G																c.64G>T	p.Glu22Ter	p.E22*	ENST00000557284	1/27	116	104	12	104	104	0	strelka-mutect	FPGT-TNNI3K,stop_gained,p.Glu9Ter,ENST00000370895,;FPGT,stop_gained,p.Glu22Ter,ENST00000370898,NM_003838.4;FPGT-TNNI3K,stop_gained,p.Glu22Ter,ENST00000557284,NM_001112808.2;FPGT-TNNI3K,stop_gained,p.Glu9Ter,ENST00000370899,NM_001199327.1;FPGT,stop_gained,p.Glu9Ter,ENST00000534056,NM_001199328.2;FPGT,stop_gained,p.Glu9Ter,ENST00000370894,NM_001199329.2;FPGT-TNNI3K,stop_gained,p.Glu9Ter,ENST00000370893,;FPGT,stop_gained,p.Glu22Ter,ENST00000467578,;FPGT,stop_gained,p.Glu9Ter,ENST00000482102,;FPGT-TNNI3K,stop_gained,p.Glu9Ter,ENST00000534632,;LRRIQ3,upstream_gene_variant,,ENST00000354431,NM_001105659.1;LRRIQ3,upstream_gene_variant,,ENST00000370911,;LRRIQ3,upstream_gene_variant,,ENST00000370909,;FPGT,upstream_gene_variant,,ENST00000472069,;FPGT,non_coding_transcript_exon_variant,,ENST00000524915,;FPGT-TNNI3K,non_coding_transcript_exon_variant,,ENST00000533006,;FPGT,stop_gained,p.Glu9Ter,ENST00000529485,;LRRIQ3,upstream_gene_variant,,ENST00000415760,;LRRIQ3,upstream_gene_variant,,ENST00000463724,;	T	ENST00000557284	Transcript	stop_gained	69/2855	64/2850	22/949	E/*	Gaa/Taa	rs755449906,COSM4538791	1		1	FPGT-TNNI3K	HGNC	HGNC:42952	protein_coding	YES	CCDS44161.2	ENSP00000450895		V9GXZ4	UPI0001EECC26	NM_001112808.2			1/27													0,1						HIGH		SNV	2		0,1	1										PASS		rs755449906	.												T	4	4	70	74198303	74198303	G	T	1	0	0	0	0	0	1	0	0	5903	1175	41	2		2	FPGT	1	74198303	Nonsense_Mutation	SNP	G	C3N-01030_TP	4181771	74198303	174758119	26	22203											
ST6GALNAC5	0	.	GRCh38	chr1	76868697	76868697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgccccggggtccccgcGggaccgcggccactggacgg	4	2	17	18	7	0	0	0	0	0	0	1	2	1	2	6	6	1	0	6	6	0	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.216G>A	p.=	p.A72A	ENST00000477717	2/5	133	124	9	108	108	0	strelka-varscan-mutect	ST6GALNAC5,synonymous_variant,p.=,ENST00000477717,NM_030965.1;ST6GALNAC5,non_coding_transcript_exon_variant,,ENST00000496845,;ST6GALNAC5,non_coding_transcript_exon_variant,,ENST00000480428,;ST6GALNAC5,synonymous_variant,p.=,ENST00000318803,;	A	ENST00000477717	Transcript	synonymous_variant	451/3751	216/1011	72/336	A	gcG/gcA		1		1	ST6GALNAC5	HGNC	HGNC:19342	protein_coding	YES	CCDS673.1	ENSP00000417583	Q9BVH7		UPI0000001C9F	NM_030965.1			2/5																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	76868697	76868697	G	A	1	0	0	0	0	0	0	0	1	15605	1103	39	1		1	ST6GALNAC5	1	76868697	Silent	SNP	G	C3N-01030_TP	2670394	76868697	172087725	27	22204											
LPAR3	0	.	GRCh38	chr1	84865990	84865991	+	Frame_Shift_Ins	INS	-	-	T																															cagagaattagaaaaaaaaaINStaaacaggcagaaaaacgtc																								novel		C3N-01030_TP	C3N-01030_NB	-	-																c.130dupA	p.Ile44AsnfsTer5	p.I44Nfs*5	ENST00000440886	1/2	186	159	27	217	215	2	sindel-varindel-pindel	LPAR3,frameshift_variant,p.Ile44AsnfsTer5,ENST00000440886,;LPAR3,frameshift_variant,p.Ile44AsnfsTer5,ENST00000370611,NM_012152.2;LPAR3,non_coding_transcript_exon_variant,,ENST00000491034,;	T	ENST00000440886	Transcript	frameshift_variant	169-170/3345	130-131/1062	44/353	I/NX	att/aAtt		1		-1	LPAR3	HGNC	HGNC:14298	protein_coding	YES	CCDS700.1	ENSP00000395389	Q9UBY5		UPI000003CAC0				1/2		Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR01560,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF21,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	70	84865990	84865990	-	T	1	0	1	1	0	0	0	0	0	8809	101	4	0		0	LPAR3	1	84865990	Frame_Shift_Ins	INS	-	C3N-01030_TP	7997293	84865990	164090432	28	22205											
ZNHIT6	0	.	GRCh38	chr1	85706442	85706442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggaagttacatgtatacCtgcaggaatatcgcatacaa	15	10	9	7	1	0	0	0	0	0	0	1	2	0	2	1	2	4	5	1	2	9	6	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.722G>T	p.Ser241Ile	p.S241I	ENST00000370574	2/10	102	74	28	183	183	0	strelka-varscan-mutect	ZNHIT6,missense_variant,p.Ser202Ile,ENST00000431532,NM_001170670.1;ZNHIT6,missense_variant,p.Ser241Ile,ENST00000370574,NM_017953.3;	A	ENST00000370574	Transcript	missense_variant,splice_region_variant	856/2797	722/1413	241/470	S/I	aGt/aTt		1		-1	ZNHIT6	HGNC	HGNC:26089	protein_coding	YES	CCDS707.1	ENSP00000359606	Q9NWK9		UPI000006D8D2	NM_017953.3	deleterious(0)		2/10		Pfam_domain:PF04438,PROSITE_profiles:PS51083,hmmpanther:PTHR13483,hmmpanther:PTHR13483:SF6,Superfamily_domains:SSF144232																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	85706442	85706442	C	A	1	0	0	0	0	1	0	0	0	18802	695	24	2		2	ZNHIT6	1	85706442	Missense_Mutation	SNP	C	C3N-01030_TP	840452	85706442	163249980	29	22206											
TGFBR3	0	.	GRCh38	chr1	91758666	91758666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgtcttcagatgccacaCcagggggtgtggggagttga	7	10	15	9	0	3	2	1	1	2	1	3	3	3	3	2	4	1	1	2	4	0	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.331G>T	p.Val111Leu	p.V111L	ENST00000212355	4/17	296	254	42	359	359	0	strelka-varscan-mutect	TGFBR3,missense_variant,p.Val111Leu,ENST00000212355,NM_003243.4;TGFBR3,missense_variant,p.Val111Leu,ENST00000370399,NM_001195684.1;TGFBR3,missense_variant,p.Val111Leu,ENST00000525962,;TGFBR3,missense_variant,p.Val111Leu,ENST00000465892,NM_001195683.1;TGFBR3,non_coding_transcript_exon_variant,,ENST00000468996,;TGFBR3,3_prime_UTR_variant,,ENST00000533089,;TGFBR3,3_prime_UTR_variant,,ENST00000532540,;	A	ENST00000212355	Transcript	missense_variant	846/6465	331/2556	111/851	V/L	Gtg/Ttg		1		-1	TGFBR3	HGNC	HGNC:11774	protein_coding	YES	CCDS30770.1	ENSP00000212355	Q03167		UPI000049D997	NM_003243.4	tolerated(0.13)		4/17		hmmpanther:PTHR14002:SF7,hmmpanther:PTHR14002																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	91758666	91758666	C	A	1	0	0	0	0	1	0	0	0	16256	507	18	2		2	TGFBR3	1	91758666	Missense_Mutation	SNP	C	C3N-01030_TP	6052224	91758666	157197756	30	22207											
SETSIP	0	.	GRCh38	chr1	92074610	92074610	+	Frame_Shift_Del	DEL	C	C	-																															ttcttcaccttcatcctcatCcccttcatcaatatcttcta																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.832delG	p.Asp278MetfsTer?	p.D278Mfs*?	ENST00000596516	1/1	40	32	8	52	52	0	sindel-varindel-pindel	SETSIP,frameshift_variant,p.Asp278MetfsTer?,ENST00000596516,NM_001287737.1;SETSIP,frameshift_variant,p.Asp268MetfsTer?,ENST00000485873,;	-	ENST00000596516	Transcript	frameshift_variant	832/909	832/909	278/302	D/X	Gat/at		1		-1	SETSIP	HGNC	HGNC:42937	protein_coding	YES	CCDS72821.1	ENSP00000480946	P0DME0		UPI000016114F	NM_001287737.1			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11875:SF74,hmmpanther:PTHR11875																	HIGH	1	deletion				1										PASS		.	.												-	7	5	70	92074610	92074610	C	-	1	0	1	0	1	0	0	0	0	14419	855	30	0		0	SETSIP	1	92074610	Frame_Shift_Del	DEL	C	C3N-01030_TP	315944	92074610	156881812	31	22208											
F3	0	.	GRCh38	chr1	94532359	94532359	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcccatacactctaccGggctgtctgtactcttccgg	5	11	9	16	2	3	0	0	0	3	0	4	0	4	0	4	3	3	2	4	3	3	4	rs760826348		C3N-01030_TP	C3N-01030_NB	G	G																c.713C>G	p.Pro238Arg	p.P238R	ENST00000334047	5/6	159	140	19	153	153	0	strelka-varscan-mutect	F3,missense_variant,p.Pro238Arg,ENST00000334047,NM_001993.4;F3,intron_variant,,ENST00000370207,NM_001178096.1;F3,downstream_gene_variant,,ENST00000480356,;F3,downstream_gene_variant,,ENST00000478217,;	C	ENST00000334047	Transcript	missense_variant	877/2287	713/888	238/295	P/R	cCg/cGg	rs760826348,COSM1320828	1		-1	F3	HGNC	HGNC:3541	protein_coding	YES	CCDS750.1	ENSP00000334145	P13726		UPI000002CD0D	NM_001993.4	tolerated(0.53)		5/6		Gene3D:2.60.40.10,Pfam_domain:PF09294,PIRSF_domain:PIRSF002498,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF22,Superfamily_domains:SSF49265											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs760826348	.												C	3	2	70	94532359	94532359	G	C	1	0	0	0	0	1	0	0	0	5215	1116	39	4		4	F3	1	94532359	Missense_Mutation	SNP	G	C3N-01030_TP	2457749	94532359	154424063	32	22209											
DBT	0	.	GRCh38	chr1	100230736	100230736	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taacagacttacaataccttTtaaagcttccgtttctatgt	12	16	4	9	1	1	1	0	0	1	1	2	1	2	1	2	0	4	2	2	0	7	8	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.430A>G	p.Lys144Glu	p.K144E	ENST00000370132	4/11	79	70	9	152	152	0	strelka-varscan-mutect	DBT,missense_variant,p.Lys144Glu,ENST00000370132,NM_001918.3;DBT,missense_variant,p.Lys144Glu,ENST00000370131,;	C	ENST00000370132	Transcript	missense_variant	444/10799	430/1449	144/482	K/E	Aaa/Gaa		1		-1	DBT	HGNC	HGNC:2698	protein_coding	YES	CCDS767.1	ENSP00000359151	P11182		UPI000013D0E7	NM_001918.3	tolerated(0.78)		4/11		hmmpanther:PTHR23151,hmmpanther:PTHR23151:SF71,Superfamily_domains:SSF51230																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	100230736	100230736	T	C	1	0	0	0	0	1	0	0	0	4058	1855	64	5		5	DBT	1	100230736	Missense_Mutation	SNP	T	C3N-01030_TP	5698377	100230736	148725686	33	22210											
SLC30A7	0	.	GRCh38	chr1	100896296	100896296	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaaagacgatgaatacAaaccacccaagttcaatttg	17	8	5	11	1	2	2	2	1	0	1	2	3	2	2	3	0	2	1	3	0	6	3	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.34A>T	p.Lys12Ter	p.K12*	ENST00000370112	1/12	250	221	29	207	207	0	strelka-varscan-mutect	SLC30A7,stop_gained,p.Lys12Ter,ENST00000370112,NM_001144884.1,NM_133496.4;SLC30A7,stop_gained,p.Lys12Ter,ENST00000357650,;EXTL2,upstream_gene_variant,,ENST00000370114,NM_001261440.1,NM_001033025.2;EXTL2,upstream_gene_variant,,ENST00000535414,NM_001261442.1;EXTL2,upstream_gene_variant,,ENST00000370113,NM_001439.3;EXTL2,upstream_gene_variant,,ENST00000450240,NM_001261441.1;EXTL2,upstream_gene_variant,,ENST00000416479,;RP4-549L20.3,downstream_gene_variant,,ENST00000609247,;EXTL2,upstream_gene_variant,,ENST00000480774,;EXTL2,upstream_gene_variant,,ENST00000494907,;	T	ENST00000370112	Transcript	stop_gained	221/7898	34/1131	12/376	K/*	Aaa/Taa		1		1	SLC30A7	HGNC	HGNC:19306	protein_coding	YES	CCDS776.1	ENSP00000359130	Q8NEW0		UPI0000050F45	NM_001144884.1,NM_133496.4			1/12																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	70	100896296	100896296	A	T	1	0	0	0	0	0	1	0	0	14830	131	5	4		4	SLC30A7	1	100896296	Nonsense_Mutation	SNP	A	C3N-01030_TP	665560	100896296	148060126	34	22211											
COL11A1	0	.	GRCh38	chr1	102935086	102935086	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggggcaccaactggtcCttgaagacctgggggaccgg	8	6	15	12	1	0	2	0	1	0	1	2	3	2	3	5	6	1	1	5	6	2	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.3466G>T	p.Gly1156Ter	p.G1156*	ENST00000370096	45/67	209	190	19	286	284	2	strelka-varscan-mutect	COL11A1,stop_gained,p.Gly1168Ter,ENST00000358392,NM_080629.2;COL11A1,stop_gained,p.Gly1156Ter,ENST00000370096,NM_001854.3;COL11A1,stop_gained,p.Gly1117Ter,ENST00000353414,NM_001190709.1;COL11A1,stop_gained,p.Gly1040Ter,ENST00000512756,NM_080630.3;COL11A1,3_prime_UTR_variant,,ENST00000635193,;	A	ENST00000370096	Transcript	stop_gained	3779/7286	3466/5421	1156/1806	G/*	Gga/Tga		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3			45/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	102935086	102935086	C	A	1	0	0	0	0	0	1	0	0	3455	690	24	2		2	COL11A1	1	102935086	Nonsense_Mutation	SNP	C	C3N-01030_TP	2038790	102935086	146021336	35	22212											
COL11A1	0	.	GRCh38	chr1	102946921	102946921	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtaaaccaattgggccAgctgtacctgctgacccacg	9	8	10	14	1	0	1	0	1	0	0	0	1	0	1	5	2	4	4	5	2	4	3	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.3204T>A	p.=	p.A1068A	ENST00000370096	42/67	274	187	87	303	303	0	strelka-varscan-mutect	COL11A1,synonymous_variant,p.=,ENST00000358392,NM_080629.2;COL11A1,synonymous_variant,p.=,ENST00000370096,NM_001854.3;COL11A1,synonymous_variant,p.=,ENST00000353414,NM_001190709.1;COL11A1,synonymous_variant,p.=,ENST00000512756,NM_080630.3;COL11A1,3_prime_UTR_variant,,ENST00000635193,;	T	ENST00000370096	Transcript	synonymous_variant	3517/7286	3204/5421	1068/1806	A	gcT/gcA		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3			42/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	102946921	102946921	A	T	1	0	0	0	0	0	0	0	1	3455	175	7	4		4	COL11A1	1	102946921	Silent	SNP	A	C3N-01030_TP	11835	102946921	146009501	36	22213											
COL11A1	0	.	GRCh38	chr1	103074655	103074655	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaaatccttgttccaaaaAccgtgattccattggtatca	13	12	5	11	1	1	1	1	1	0	0	4	1	4	1	5	1	1	2	5	1	5	5	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.614T>A	p.Val205Asp	p.V205D	ENST00000370096	4/67	164	132	32	204	204	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Val205Asp,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Val205Asp,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Val205Asp,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Val205Asp,ENST00000512756,NM_080630.3;COL11A1,missense_variant,p.Val205Asp,ENST00000427239,;COL11A1,missense_variant,p.Val132Asp,ENST00000447608,;	T	ENST00000370096	Transcript	missense_variant	927/7286	614/5421	205/1806	V/D	gTt/gAt		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0)		4/67		Gene3D:2.60.120.200,SMART_domains:SM00210,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	103074655	103074655	A	T	1	0	0	0	0	1	0	0	0	3455	43	2	4		4	COL11A1	1	103074655	Missense_Mutation	SNP	A	C3N-01030_TP	127734	103074655	145881767	37	22214											
AMY2B	0	.	GRCh38	chr1	103572236	103572236	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatttagaaacatggtgActagatgtaacaatgttggg	15	12	11	3	0	0	4	0	2	0	2	0	4	0	4	0	2	2	2	0	2	6	5	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.295A>T	p.Thr99Ser	p.T99S	ENST00000361355	4/12	84	59	25	134	134	0	strelka-varscan-mutect	AMY2B,missense_variant,p.Thr99Ser,ENST00000361355,NM_020978.4;AMY2B,missense_variant,p.Thr99Ser,ENST00000610648,;AMY2B,downstream_gene_variant,,ENST00000453959,;AMY2B,downstream_gene_variant,,ENST00000435302,;AMY2B,non_coding_transcript_exon_variant,,ENST00000491397,;AMY2B,upstream_gene_variant,,ENST00000462971,;AMY2B,missense_variant,p.Thr99Ser,ENST00000477657,;ACTG1P4,downstream_gene_variant,,ENST00000425123,;	T	ENST00000361355	Transcript	missense_variant	911/2181	295/1536	99/511	T/S	Act/Tct		1		1	AMY2B	HGNC	HGNC:478	protein_coding	YES	CCDS782.1	ENSP00000354610	P19961		UPI0000000CB1	NM_020978.4	tolerated(0.37)		4/12		hmmpanther:PTHR10357:SF105,hmmpanther:PTHR10357,Gene3D:3.20.20.80,Pfam_domain:PF00128,SMART_domains:SM00642,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	103572236	103572236	A	T	1	0	0	0	0	1	0	0	0	692	275	10	4		4	AMY2B	1	103572236	Missense_Mutation	SNP	A	C3N-01030_TP	497581	103572236	145384186	38	22215											
SLC16A1	0	.	GRCh38	chr1	112913995	112913995	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccagcaacatctatacTggtctcttcctctttacttt	7	17	3	14	0	3	0	0	0	3	0	6	0	5	0	2	1	4	1	2	1	4	7	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.1399A>T	p.Ser467Cys	p.S467C	ENST00000538576	5/5	307	233	74	365	365	0	strelka-varscan-mutect	SLC16A1,missense_variant,p.Ser467Cys,ENST00000538576,NM_001166496.1;SLC16A1,missense_variant,p.Ser467Cys,ENST00000369626,NM_003051.3;SLC16A1,downstream_gene_variant,,ENST00000458229,;SLC16A1,downstream_gene_variant,,ENST00000443580,;SLC16A1,downstream_gene_variant,,ENST00000429288,;SLC16A1,downstream_gene_variant,,ENST00000481750,;	A	ENST00000538576	Transcript	missense_variant	2231/4374	1399/1503	467/500	S/C	Agt/Tgt		1		-1	SLC16A1	HGNC	HGNC:10922	protein_coding	YES	CCDS858.1	ENSP00000441065	P53985	A0A024R0H1	UPI00000012F5	NM_001166496.1	deleterious(0.04)		5/5		hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF24																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	70	112913995	112913995	T	A	1	0	0	0	0	1	0	0	0	14668	1580	55	4		4	SLC16A1	1	112913995	Missense_Mutation	SNP	T	C3N-01030_TP	9341759	112913995	136042427	39	22216											
CASQ2	0	.	GRCh38	chr1	115738322	115738322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgatgatctccactGggtcttcaattagctgaaat	9	14	9	9	0	3	3	1	3	2	0	4	3	3	3	1	1	3	3	1	1	3	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.434C>A	p.Pro145Gln	p.P145Q	ENST00000261448	4/11	272	228	44	282	279	3	strelka-varscan-mutect	CASQ2,missense_variant,p.Pro145Gln,ENST00000261448,NM_001232.3;	T	ENST00000261448	Transcript	missense_variant	674/2674	434/1200	145/399	P/Q	cCa/cAa		1		-1	CASQ2	HGNC	HGNC:1513	protein_coding	YES	CCDS884.1	ENSP00000261448	O14958		UPI0000126F16	NM_001232.3	deleterious(0)		4/11		Gene3D:3.40.30.10,Pfam_domain:PF01216,hmmpanther:PTHR10033,hmmpanther:PTHR10033:SF15,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	115738322	115738322	G	T	1	0	0	0	0	1	0	0	0	2380	1348	47	2		2	CASQ2	1	115738322	Missense_Mutation	SNP	G	C3N-01030_TP	2824327	115738322	133218100	40	22217											
PTGFRN	0	.	GRCh38	chr1	116961665	116961665	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacatattttgggcattaGaaggtaggaacttttttctt	11	18	8	4	0	1	1	0	0	1	1	1	2	1	2	0	3	2	2	0	3	6	10	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1636G>T	p.Glu546Ter	p.E546*	ENST00000393203	5/9	57	51	6	86	86	0	strelka-varscan-mutect	PTGFRN,stop_gained,p.Glu546Ter,ENST00000393203,NM_020440.3;RNA5SP55,downstream_gene_variant,,ENST00000516701,;	T	ENST00000393203	Transcript	stop_gained	1783/6178	1636/2640	546/879	E/*	Gaa/Taa		1		1	PTGFRN	HGNC	HGNC:9601	protein_coding	YES	CCDS890.1	ENSP00000376899	Q9P2B2		UPI000012ABC4	NM_020440.3			5/9		Gene3D:2.60.40.10,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF3																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	70	116961665	116961665	G	T	1	0	0	0	0	0	1	0	0	12906	956	33	2		2	PTGFRN	1	116961665	Nonsense_Mutation	SNP	G	C3N-01030_TP	1223343	116961665	131994757	41	22218											
HSD3B2	0	.	GRCh38	chr1	119422010	119422010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgtgctggcggctaatgGgtggaatctaaaaaatggtg	10	10	16	5	1	1	0	0	0	1	0	1	1	1	1	0	6	1	3	0	6	5	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.509G>T	p.Gly170Val	p.G170V	ENST00000543831	4/4	376	334	42	413	413	0	strelka-varscan-mutect	HSD3B2,missense_variant,p.Gly170Val,ENST00000543831,NM_001166120.1;HSD3B2,missense_variant,p.Gly170Val,ENST00000369416,NM_000198.3;HSD3B2,missense_variant,p.Gly170Val,ENST00000433745,;HSD3B2,non_coding_transcript_exon_variant,,ENST00000448448,;HSD3B2,downstream_gene_variant,,ENST00000471656,;HSD3B2,downstream_gene_variant,,ENST00000443865,;	T	ENST00000543831	Transcript	missense_variant	758/1783	509/1119	170/372	G/V	gGg/gTg		1		1	HSD3B2	HGNC	HGNC:5218	protein_coding	YES	CCDS902.1	ENSP00000445122	P26439	A0A024R0F9	UPI0000001C6C	NM_001166120.1	deleterious(0)		4/4		Gene3D:3.40.50.720,Pfam_domain:PF01073,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF444,Superfamily_domains:SSF51735																	MODERATE	1	SNV	3			1										PASS		.	.												T	3	4	70	119422010	119422010	G	T	1	0	0	0	0	1	0	0	0	7285	1232	43	2		2	HSD3B2	1	119422010	Missense_Mutation	SNP	G	C3N-01030_TP	2460345	119422010	129534412	42	22219											
ZNF697	0	.	GRCh38	chr1	119623322	119623322	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcccccgcgccgctggccgCcgcgtgcgcgcgccggtggc	0	3	17	21	11	0	0	0	0	0	0	0	0	0	0	6	3	1	1	6	3	0	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1021G>T	p.Ala341Ser	p.A341S	ENST00000421812	3/3	66	52	14	54	54	0	strelka-varscan-mutect	ZNF697,missense_variant,p.Ala341Ser,ENST00000421812,NM_001080470.1;	A	ENST00000421812	Transcript	missense_variant	1141/5041	1021/1638	341/545	A/S	Gcg/Tcg		1		-1	ZNF697	HGNC	HGNC:32034	protein_coding	YES	CCDS44202.1	ENSP00000396857	Q5TEC3		UPI0000DD78D7	NM_001080470.1	deleterious(0)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF233,Low_complexity_(Seg):seg																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	70	119623322	119623322	C	A	1	0	0	0	0	1	0	0	0	18673	739	26	2		2	ZNF697	1	119623322	Missense_Mutation	SNP	C	C3N-01030_TP	201312	119623322	129333100	43	22220											
ADAM30	0	.	GRCh38	chr1	119895433	119895433	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaccatgcaagagcatcatTatattttctttgaagatata	14	14	6	7	1	2	3	1	1	1	2	2	4	2	3	1	0	2	2	1	0	6	7	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.904A>T	p.Asn302Tyr	p.N302Y	ENST00000369400	1/1	122	101	21	145	145	0	strelka-varscan-mutect	ADAM30,missense_variant,p.Asn302Tyr,ENST00000369400,NM_021794.3;	A	ENST00000369400	Transcript	missense_variant	1063/2963	904/2373	302/790	N/Y	Aat/Tat		1		-1	ADAM30	HGNC	HGNC:208	protein_coding	YES	CCDS907.1	ENSP00000358407	Q9UKF2		UPI000004C638	NM_021794.3	tolerated(0.05)		1/1		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF148,Superfamily_domains:SSF55486																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	70	119895433	119895433	T	A	1	0	0	0	0	1	0	0	0	292	1754	61	4		4	ADAM30	1	119895433	Missense_Mutation	SNP	T	C3N-01030_TP	272111	119895433	129060989	44	22221											
SEC22B	0	.	GRCh38	chr1	120163236	120163236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caataaaggaatagggtcggGacacagtgggcaccttcttt	12	9	12	8	1	1	0	0	0	1	0	2	2	1	2	1	4	0	1	1	4	5	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.320C>T	p.Ser107Phe	p.S107F	ENST00000578049	3/5	37	27	10	29	29	0	strelka-varscan-mutect	SEC22B,missense_variant,p.Ser107Phe,ENST00000578049,NM_004892.5;SEC22B,upstream_gene_variant,,ENST00000618538,;	A	ENST00000578049	Transcript	missense_variant	454/6922	320/648	107/215	S/F	tCc/tTc		1		-1	SEC22B	HGNC	HGNC:10700	protein_coding	YES		ENSP00000463393	O75396		UPI0000022D17	NM_004892.5	deleterious(0.01)		3/5		PROSITE_profiles:PS50859,hmmpanther:PTHR21136,hmmpanther:PTHR21136:SF96,Pfam_domain:PF13774,Gene3D:3.30.450.50,SMART_domains:SM01270,Superfamily_domains:SSF64356																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	120163236	120163236	G	A	1	0	0	0	0	1	0	0	0	14266	1174	41	3		3	SEC22B	1	120163236	Missense_Mutation	SNP	G	C3N-01030_TP	267803	120163236	128793186	45	22222											
CHD1L	0	.	GRCh38	chr1	147252662	147252662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggagggagtaaactGgctcgcccagcgcttccatt	8	8	12	13	2	0	0	0	0	0	0	2	2	1	2	3	3	3	4	3	3	2	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.167G>T	p.Trp56Leu	p.W56L	ENST00000369258	2/23	214	186	28	117	117	0	strelka-varscan-mutect	CHD1L,missense_variant,p.Trp56Leu,ENST00000369258,NM_004284.4;CHD1L,5_prime_UTR_variant,,ENST00000431239,NM_024568.2,NM_001256336.1;CHD1L,intron_variant,,ENST00000361293,NM_001256337.1;CHD1L,intron_variant,,ENST00000369259,NM_001256338.1;RP11-337C18.10,downstream_gene_variant,,ENST00000606856,;CHD1L,missense_variant,p.Trp56Leu,ENST00000622533,;CHD1L,missense_variant,p.Trp56Leu,ENST00000467213,;CHD1L,non_coding_transcript_exon_variant,,ENST00000492728,;CHD1L,intron_variant,,ENST00000488864,;	T	ENST00000369258	Transcript	missense_variant	187/2967	167/2694	56/897	W/L	tGg/tTg		1		1	CHD1L	HGNC	HGNC:1916	protein_coding	YES	CCDS927.1	ENSP00000358262	Q86WJ1		UPI000000D7F1	NM_004284.4	deleterious(0)		2/23		Gene3D:3.40.50.300,hmmpanther:PTHR10799,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	147252662	147252662	G	T	1	0	0	0	0	1	0	0	0	3083	1357	47	2		2	CHD1L	1	147252662	Missense_Mutation	SNP	G	C3N-01030_TP	27089426	147252662	101703760	46	22223											
ACP6	0	.	GRCh38	chr1	147654321	147654321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagaggcagtctgcctcCggcctctgacaaaaaataaa	15	7	9	10	1	2	2	0	1	2	1	3	2	3	2	3	2	1	2	3	2	7	2	rs782463000		C3N-01030_TP	C3N-01030_NB	C	C																c.653G>T	p.Arg218Leu	p.R218L	ENST00000583509	6/10	213	163	50	156	156	0	strelka-varscan-mutect	ACP6,missense_variant,p.Arg218Leu,ENST00000583509,NM_016361.4;ACP6,missense_variant,p.Arg46Leu,ENST00000609196,;ACP6,missense_variant,p.Arg175Leu,ENST00000392988,;ACP6,missense_variant,p.Arg218Leu,ENST00000487562,;ACP6,missense_variant,p.Arg113Leu,ENST00000611629,;ACP6,downstream_gene_variant,,ENST00000493129,;ACP6,3_prime_UTR_variant,,ENST00000620634,;ACP6,non_coding_transcript_exon_variant,,ENST00000613673,;ACP6,non_coding_transcript_exon_variant,,ENST00000614551,;ACP6,upstream_gene_variant,,ENST00000460583,;	A	ENST00000583509	Transcript	missense_variant	1101/6923	653/1287	218/428	R/L	cGg/cTg	rs782463000,COSM5353165,COSM5353166	1		-1	ACP6	HGNC	HGNC:29609	protein_coding	YES	CCDS928.1	ENSP00000463574		X5D289	UPI000003F07E	NM_016361.4	tolerated(0.22)		6/10		hmmpanther:PTHR11567,hmmpanther:PTHR11567:SF123,Gene3D:3.40.50.1240,Pfam_domain:PF00328,Superfamily_domains:SSF53254											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs782463000	.												A	3	1	70	147654321	147654321	C	A	1	0	0	0	0	1	0	0	0	207	666	23	1		1	ACP6	1	147654321	Missense_Mutation	SNP	C	C3N-01030_TP	401659	147654321	101302101	47	22224											
GPR89B	0	.	GRCh38	chr1	147968894	147968894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcttactcttattcaacaGgaagtggatgctttggaaga	12	13	10	6	0	3	1	1	0	2	1	3	5	3	4	0	3	3	1	0	3	5	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.747G>T	p.Gln249His	p.Q249H	ENST00000314163	9/14	195	109	86	172	170	2	strelka-varscan-mutect	GPR89B,missense_variant,p.Gln249His,ENST00000314163,NM_016334.3;GPR89B,downstream_gene_variant,,ENST00000468618,;GPR89B,splice_acceptor_variant,,ENST00000488603,;GPR89B,splice_acceptor_variant,,ENST00000461786,;GPR89B,3_prime_UTR_variant,,ENST00000488165,;GPR89B,3_prime_UTR_variant,,ENST00000491975,;GPR89B,non_coding_transcript_exon_variant,,ENST00000478307,;GPR89B,upstream_gene_variant,,ENST00000490955,;	T	ENST00000314163	Transcript	missense_variant	891/1934	747/1368	249/455	Q/H	caG/caT		1		1	GPR89B	HGNC	HGNC:13840	protein_coding	YES	CCDS930.1	ENSP00000358233	P0CG08	X5D7G6	UPI00000389CC	NM_016334.3	tolerated(0.18)		9/14		hmmpanther:PTHR15948																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	147968894	147968894	G	T	1	0	0	0	0	1	0	0	0	6600	991	35	2		2	GPR89B	1	147968894	Missense_Mutation	SNP	G	C3N-01030_TP	314573	147968894	100987528	48	22225											
FLG	0	.	GRCh38	chr1	152306361	152306361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgattgttcctcattaCgtgttgttctgcttgcactt	4	19	7	11	1	2	1	1	1	1	0	4	1	4	1	2	0	3	5	2	0	1	7	rs556196419		C3N-01030_TP	C3N-01030_NB	C	C																c.8525G>T	p.Arg2842Leu	p.R2842L	ENST00000368799	3/3	1383	1150	233	813	813	0	strelka-varscan	FLG,missense_variant,p.Arg2842Leu,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	A	ENST00000368799	Transcript	missense_variant	8561/12747	8525/12186	2842/4061	R/L	cGt/cTt	rs556196419,COSM5292325	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	tolerated(0.11)		3/3		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	70	152306361	152306361	C	A	1	0	0	0	0	1	0	0	0	5784	536	19	1		1	FLG	1	152306361	Missense_Mutation	SNP	C	C3N-01030_TP	4337467	152306361	96650061	49	22226											
FLG2	0	.	GRCh38	chr1	152353676	152353676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgagatccagcttggctGtgagtttgttcttgtgagtg	5	17	14	5	0	1	3	0	3	1	1	2	4	2	3	1	1	1	5	1	1	0	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.4110C>A	p.His1370Gln	p.H1370Q	ENST00000388718	3/3	268	149	119	173	172	1	strelka-varscan	FLG2,missense_variant,p.His1370Gln,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,;	T	ENST00000388718	Transcript	missense_variant	4183/9124	4110/7176	1370/2391	H/Q	caC/caA		1		-1	FLG2	HGNC	HGNC:33276	protein_coding	YES	CCDS30861.1	ENSP00000373370	Q5D862		UPI00004E1DE5	NM_001014342.2	deleterious(0.01)		3/3		hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	70	152353676	152353676	G	T	1	0	0	0	0	1	0	0	0	5785	1368	48	2		2	FLG2	1	152353676	Missense_Mutation	SNP	G	C3N-01030_TP	47315	152353676	96602746	50	22227											
PGLYRP3	0	.	GRCh38	chr1	153307102	153307102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accagcctatggtgtagacgGaatgggactgcaacccccgc	10	6	12	13	2	0	1	0	0	0	1	0	3	0	3	4	3	3	2	4	3	4	2	rs771297602		C3N-01030_TP	C3N-01030_NB	G	G																c.221C>T	p.Ser74Phe	p.S74F	ENST00000290722	2/7	374	314	60	191	191	0	strelka-varscan	PGLYRP3,missense_variant,p.Ser74Phe,ENST00000290722,NM_052891.2;	A	ENST00000290722	Transcript	missense_variant	274/1173	221/1026	74/341	S/F	tCc/tTc	rs771297602,COSM230880	1		-1	PGLYRP3	HGNC	HGNC:30014	protein_coding	YES	CCDS1035.1	ENSP00000290722	Q96LB9		UPI000006F12B	NM_052891.2	deleterious(0.03)		2/7		hmmpanther:PTHR11022,hmmpanther:PTHR11022:SF12,Gene3D:3.40.80.10,Pfam_domain:PF01510,SMART_domains:SM00701,SMART_domains:SM00644,Superfamily_domains:SSF55846											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	70	153307102	153307102	G	A	1	0	0	0	0	1	0	0	0	11884	1174	41	3		3	PGLYRP3	1	153307102	Missense_Mutation	SNP	G	C3N-01030_TP	953426	153307102	95649320	51	22228											
S100A7A	0	.	GRCh38	chr1	153419308	153419308	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttctgggggaagccagtGatccagccccaccaaggggc	8	6	14	13	0	1	1	0	1	1	0	2	2	2	2	5	4	2	1	5	4	2	1	rs368556174		C3N-01030_TP	C3N-01030_NB	G	G																c.305G>A	p.=	p.*102*	ENST00000368729	3/3	115	105	10	94	94	0	strelka-varscan	S100A7A,stop_retained_variant,p.=,ENST00000368729,NM_176823.3;S100A7A,stop_retained_variant,p.=,ENST00000329256,;S100A7A,stop_retained_variant,p.=,ENST00000368728,;	A	ENST00000368729	Transcript	stop_retained_variant	362/4279	305/306	102/101	*	tGa/tAa	rs368556174	1		1	S100A7A	HGNC	HGNC:21657	protein_coding	YES	CCDS30872.1	ENSP00000357718	Q86SG5		UPI000000D89D	NM_176823.3			3/3																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	153419308	153419308	G	A	1	0	0	0	0	0	0	0	1	14043	1285	45	3		3	S100A7A	1	153419308	Silent	SNP	G	C3N-01030_TP	112206	153419308	95537114	52	22229											
RUSC1	0	.	GRCh38	chr1	155326617	155326617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacctgccaacaggatttttCtccctggcccgcggtggttg	5	12	11	13	2	1	0	0	0	1	0	2	1	1	1	4	4	3	1	4	4	2	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1899C>G	p.Phe633Leu	p.F633L	ENST00000368352	8/10	120	110	10	61	61	0	strelka-varscan	RUSC1,missense_variant,p.Phe633Leu,ENST00000368352,NM_001105203.1;RUSC1,missense_variant,p.Phe223Leu,ENST00000368347,NM_001105205.1;RUSC1,missense_variant,p.Phe164Leu,ENST00000292254,NM_001278230.1;RUSC1,missense_variant,p.Phe164Leu,ENST00000368349,NM_001278229.1,NM_014328.4,NM_001278227.1,NM_001278228.1;RUSC1,missense_variant,p.Phe164Leu,ENST00000497930,;RUSC1,missense_variant,p.Phe164Leu,ENST00000489860,;RUSC1,missense_variant,p.Phe54Leu,ENST00000485924,;RUSC1,5_prime_UTR_variant,,ENST00000490373,;RUSC1,intron_variant,,ENST00000368354,NM_001105204.1;RUSC1,intron_variant,,ENST00000471876,;RUSC1,intron_variant,,ENST00000479924,;RUSC1-AS1,upstream_gene_variant,,ENST00000450199,;RUSC1-AS1,upstream_gene_variant,,ENST00000443642,;RUSC1,3_prime_UTR_variant,,ENST00000468764,;RUSC1,non_coding_transcript_exon_variant,,ENST00000462780,;RUSC1,non_coding_transcript_exon_variant,,ENST00000492536,;RUSC1,non_coding_transcript_exon_variant,,ENST00000467820,;RUSC1,non_coding_transcript_exon_variant,,ENST00000473331,;	G	ENST00000368352	Transcript	missense_variant	2050/3403	1899/2709	633/902	F/L	ttC/ttG		1		1	RUSC1	HGNC	HGNC:17153	protein_coding	YES	CCDS41410.1	ENSP00000357336	Q9BVN2		UPI000046FDA5	NM_001105203.1	tolerated(0.61)		8/10		PROSITE_profiles:PS50826,hmmpanther:PTHR15591,Pfam_domain:PF02759,SMART_domains:SM00593,Superfamily_domains:0052343																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	70	155326617	155326617	C	G	1	0	0	0	0	1	0	0	0	14011	912	32	4		4	RUSC1	1	155326617	Missense_Mutation	SNP	C	C3N-01030_TP	1907309	155326617	93629805	53	22230											
FCRL5	0	.	GRCh38	chr1	157524277	157524277	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgggcagggcccactcAcctgcaactttcagtgtcac	7	9	11	14	0	3	0	3	0	0	0	3	0	3	0	2	3	2	2	2	3	1	1	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.2239+2T>A		p.X747_splice	ENST00000361835		153	78	75	124	124	0	strelka-varscan	FCRL5,splice_donor_variant,,ENST00000361835,NM_001195388.1,NM_031281.2;FCRL5,synonymous_variant,p.=,ENST00000368190,;FCRL5,splice_donor_variant,,ENST00000497286,;FCRL5,upstream_gene_variant,,ENST00000461387,;	T	ENST00000361835	Transcript	splice_donor_variant	-/5390	2239/2934	747/977				1		-1	FCRL5	HGNC	HGNC:18508	protein_coding	YES	CCDS1165.1	ENSP00000354691	Q96RD9		UPI0000458907	NM_001195388.1,NM_031281.2				10/16																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	70	157524277	157524277	A	T	1	0	0	0	0	0	0	1	0	5660	173	6	4		4	FCRL5	1	157524277	Splice_Site	SNP	A	C3N-01030_TP	2197660	157524277	91432145	54	22231											
SLAMF8	0	.	GRCh38	chr1	159832991	159832991	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacatcagcgaaataacCtatagctggcgacgggagac	14	5	10	12	3	1	1	1	0	0	1	1	4	1	1	2	2	4	1	2	2	5	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.483C>A	p.=	p.T161T	ENST00000289707	3/5	502	431	71	300	300	0	strelka-varscan	SLAMF8,synonymous_variant,p.=,ENST00000289707,NM_020125.2;SLAMF8,synonymous_variant,p.=,ENST00000368104,;C1orf204,downstream_gene_variant,,ENST00000368102,NM_001134233.1;C1orf204,downstream_gene_variant,,ENST00000621242,;SLAMF8,non_coding_transcript_exon_variant,,ENST00000471286,;C1orf204,downstream_gene_variant,,ENST00000491974,;SLAMF8,upstream_gene_variant,,ENST00000497141,;	A	ENST00000289707	Transcript	synonymous_variant	632/2996	483/858	161/285	T	acC/acA		1		1	SLAMF8	HGNC	HGNC:21391	protein_coding	YES	CCDS1188.1	ENSP00000289707	Q9P0V8		UPI000003E841	NM_020125.2			3/5		PROSITE_profiles:PS50835,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF55,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	159832991	159832991	C	A	1	0	0	0	0	0	0	0	1	14635	668	24	2		2	SLAMF8	1	159832991	Silent	SNP	C	C3N-01030_TP	2308714	159832991	89123431	55	22232											
SLAMF1	0	.	GRCh38	chr1	160634642	160634642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctgcatccgggccacGggctgaaggtctgggaattg	6	9	15	11	2	1	1	0	1	1	0	3	2	3	2	3	4	1	2	3	4	2	1	rs753033265		C3N-01030_TP	C3N-01030_NB	G	G																c.671C>A	p.Pro224Gln	p.P224Q	ENST00000302035	3/7	96	52	44	57	57	0	strelka-varscan	SLAMF1,missense_variant,p.Pro224Gln,ENST00000302035,NM_003037.3;SLAMF1,missense_variant,p.Pro224Gln,ENST00000538290,;SLAMF1,intron_variant,,ENST00000235739,;SLAMF1,downstream_gene_variant,,ENST00000494463,;	T	ENST00000302035	Transcript	missense_variant	1021/4006	671/1008	224/335	P/Q	cCg/cAg	rs753033265,COSM530069	1		-1	SLAMF1	HGNC	HGNC:10903	protein_coding	YES	CCDS1207.1	ENSP00000306190	Q13291		UPI0000047630	NM_003037.3	deleterious(0.02)		3/7		hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF49											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	70	160634642	160634642	G	T	1	0	0	0	0	1	0	0	0	14632	1116	39	1		1	SLAMF1	1	160634642	Missense_Mutation	SNP	G	C3N-01030_TP	801651	160634642	88321780	56	22233											
ILDR2	0	.	GRCh38	chr1	166921204	166921204	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaagccgctgtgcgcccGcgactccgagcgctcgaagc	7	5	14	15	7	0	1	0	0	0	1	2	4	1	1	3	0	4	3	3	0	3	1			C3N-01030_TP	C3N-01030_NB	G	G																c.1387C>A	p.=	p.R463R	ENST00000271417	9/10	127	109	18	83	83	0	strelka-varscan	ILDR2,synonymous_variant,p.=,ENST00000271417,NM_199351.2;ILDR2,synonymous_variant,p.=,ENST00000529071,;ILDR2,synonymous_variant,p.=,ENST00000528703,;ILDR2,synonymous_variant,p.=,ENST00000526687,;ILDR2,synonymous_variant,p.=,ENST00000525740,;ILDR2,intron_variant,,ENST00000469934,;ILDR2,intron_variant,,ENST00000529387,;ILDR2,upstream_gene_variant,,ENST00000614979,;	T	ENST00000271417	Transcript	synonymous_variant	1443/13140	1387/1920	463/639	R	Cgg/Agg	COSM4692395	1		-1	ILDR2	HGNC	HGNC:18131	protein_coding	YES	CCDS1256.1	ENSP00000271417	Q71H61		UPI00002317DF	NM_199351.2			9/10		hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0,Low_complexity_(Seg):seg											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	70	166921204	166921204	G	T	1	0	0	0	0	0	0	0	1	7613	1086	38	1		1	ILDR2	1	166921204	Silent	SNP	G	C3N-01030_TP	6286562	166921204	82035218	57	22234											
ADCY10	0	.	GRCh38	chr1	167883511	167883511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgatgtgcatataggcatCctggatggctgggcctatct	8	12	13	8	0	1	1	0	1	1	0	2	2	2	2	2	4	1	3	2	4	3	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.946G>T	p.Asp316Tyr	p.D316Y	ENST00000367851	9/33	444	267	177	321	320	1	strelka-varscan	ADCY10,missense_variant,p.Asp224Tyr,ENST00000367848,NM_001297772.1;ADCY10,missense_variant,p.Asp316Tyr,ENST00000367851,NM_018417.5;ADCY10,missense_variant,p.Asp163Tyr,ENST00000545172,NM_001167749.2;	A	ENST00000367851	Transcript	missense_variant	1131/5051	946/4833	316/1610	D/Y	Gat/Tat		1		-1	ADCY10	HGNC	HGNC:21285	protein_coding	YES	CCDS1265.1	ENSP00000356825	Q96PN6	A0A0K0K1J8	UPI0000204D00	NM_018417.5	deleterious(0)		9/33		hmmpanther:PTHR16305,hmmpanther:PTHR16305:SF32,Pfam_domain:PF00211,PIRSF_domain:PIRSF011131,Gene3D:3.30.70.1230,Superfamily_domains:SSF55073																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	167883511	167883511	C	A	1	0	0	0	0	1	0	0	0	337	855	30	2		2	ADCY10	1	167883511	Missense_Mutation	SNP	C	C3N-01030_TP	962307	167883511	81072911	58	22235											
TBX19	0	.	GRCh38	chr1	168312772	168312772	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagtgggccaggcccggagGtgcacgccagcaccccagga	8	2	15	16	2	0	0	0	0	0	0	0	2	0	2	6	5	2	2	6	5	0	0	rs778358146		C3N-01030_TP	C3N-01030_NB	G	G																c.1117G>C	p.Val373Leu	p.V373L	ENST00000367821	8/8	519	307	212	289	289	0	strelka-varscan	TBX19,missense_variant,p.Val373Leu,ENST00000367821,NM_005149.2;TBX19,missense_variant,p.Val243Leu,ENST00000431969,;TBX19,missense_variant,p.Val206Leu,ENST00000441464,;TBX19,non_coding_transcript_exon_variant,,ENST00000465440,;RP5-1059H15.1,upstream_gene_variant,,ENST00000636624,;	C	ENST00000367821	Transcript	missense_variant	1168/2822	1117/1347	373/448	V/L	Gtg/Ctg	rs778358146	1		1	TBX19	HGNC	HGNC:11596	protein_coding	YES	CCDS1272.1	ENSP00000356795	O60806		UPI000003176C	NM_005149.2	tolerated(0.27)		8/8		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF114																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	168312772	168312772	G	C	1	0	0	0	0	1	0	0	0	16059	1261	44	4		4	TBX19	1	168312772	Missense_Mutation	SNP	G	C3N-01030_TP	429261	168312772	80643650	59	22236											
PRRC2C	0	.	GRCh38	chr1	171557940	171557940	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacccacaaaccagtccAgaatccactacagactacat	17	5	4	15	0	0	3	0	0	0	3	2	3	2	3	4	0	3	0	4	0	4	2	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.5822A>T	p.Gln1941Leu	p.Q1941L	ENST00000338920	19/34	156	78	78	120	120	0	strelka-varscan	PRRC2C,missense_variant,p.Gln1943Leu,ENST00000367742,;PRRC2C,missense_variant,p.Gln1941Leu,ENST00000338920,NM_015172.3;PRRC2C,missense_variant,p.Gln1941Leu,ENST00000426496,;PRRC2C,missense_variant,p.Gln489Leu,ENST00000495585,;	T	ENST00000338920	Transcript	missense_variant	6059/10355	5822/8454	1941/2817	Q/L	cAg/cTg		1		1	PRRC2C	HGNC	HGNC:24903	protein_coding	YES	CCDS1296.2	ENSP00000343629	Q9Y520		UPI0000E265EC	NM_015172.3	deleterious_low_confidence(0)		19/34																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	171557940	171557940	A	T	1	0	0	0	0	1	0	0	0	12750	188	7	4		4	PRRC2C	1	171557940	Missense_Mutation	SNP	A	C3N-01030_TP	3245168	171557940	77398482	60	22237											
SLC9C2	0	.	GRCh38	chr1	173554758	173554758	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggctgactgagtcatCacgtatgaatttattcccat	9	15	7	10	1	2	3	2	3	0	0	4	3	4	3	2	1	0	2	2	1	3	5			C3N-01030_TP	C3N-01030_NB	C	C																c.1272G>T	p.=	p.V424V	ENST00000367714	11/28	115	103	12	124	123	1	strelka-varscan-mutect	SLC9C2,synonymous_variant,p.=,ENST00000367714,NM_178527.3;RP3-436N22.3,upstream_gene_variant,,ENST00000431459,;SLC9C2,intron_variant,,ENST00000466087,;	A	ENST00000367714	Transcript	synonymous_variant	1695/4428	1272/3375	424/1124	V	gtG/gtT	COSM5495348	1		-1	SLC9C2	HGNC	HGNC:28664	protein_coding	YES	CCDS1308.1	ENSP00000356687	Q5TAH2		UPI0000197379	NM_178527.3			11/28		Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF91											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	70	173554758	173554758	C	A	1	0	0	0	0	0	0	0	1	15007	813	29	2		2	SLC9C2	1	173554758	Silent	SNP	C	C3N-01030_TP	1996818	173554758	75401664	61	22238											
RC3H1	0	.	GRCh38	chr1	173980853	173980853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttgtgagactggtctcCataaagcaaagaggaccact	14	9	10	8	0	1	3	0	1	1	3	2	5	1	4	2	2	1	1	2	2	3	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.925G>A	p.Gly309Arg	p.G309R	ENST00000367696	6/20	237	135	102	185	185	0	strelka-varscan-mutect	RC3H1,missense_variant,p.Gly309Arg,ENST00000367696,;RC3H1,missense_variant,p.Gly309Arg,ENST00000258349,NM_001300850.1,NM_172071.3;RC3H1,missense_variant,p.Gly309Arg,ENST00000367694,NM_001300851.1,NM_001300852.1;RC3H1,downstream_gene_variant,,ENST00000484867,;	T	ENST00000367696	Transcript	missense_variant	1277/11261	925/3402	309/1133	G/R	Gga/Aga		1		-1	RC3H1	HGNC	HGNC:29434	protein_coding	YES	CCDS30940.1	ENSP00000356669	Q5TC82		UPI00001D7DA8		deleterious(0)		6/20		hmmpanther:PTHR13139:SF6,hmmpanther:PTHR13139																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	173980853	173980853	C	T	1	0	0	0	0	1	0	0	0	13335	603	21	3		3	RC3H1	1	173980853	Missense_Mutation	SNP	C	C3N-01030_TP	426095	173980853	74975569	62	22239											
TNN	0	.	GRCh38	chr1	175144466	175144466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcgcactcagcaactgtgcCctgacacatcatggtggctg	9	9	10	13	1	2	1	2	1	0	0	3	1	2	1	1	2	3	3	1	2	1	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.3675C>T	p.=	p.A1225A	ENST00000239462	18/19	270	227	43	175	175	0	strelka-varscan-mutect	TNN,synonymous_variant,p.=,ENST00000239462,NM_022093.1;TNN,synonymous_variant,p.=,ENST00000621086,;TNN,synonymous_variant,p.=,ENST00000622870,;	T	ENST00000239462	Transcript	synonymous_variant	3788/5008	3675/3900	1225/1299	A	gcC/gcT		1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1			18/19		PROSITE_profiles:PS51406,hmmpanther:PTHR19143:SF252,hmmpanther:PTHR19143,Pfam_domain:PF00147,Gene3D:4.10.530.10,SMART_domains:SM00186,Superfamily_domains:SSF56496																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	70	175144466	175144466	C	T	1	0	0	0	0	0	0	0	1	16796	610	22	3		3	TNN	1	175144466	Silent	SNP	C	C3N-01030_TP	1163613	175144466	73811956	63	22240											
ASTN1	0	.	GRCh38	chr1	176958395	176958395	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccgtcttgcactttgcTgatggattgatggccagttc	6	15	11	9	1	1	2	0	2	1	0	3	3	2	3	2	2	2	3	2	2	0	4	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.1686A>T	p.=	p.S562S	ENST00000361833	10/23	282	261	21	225	225	0	strelka-varscan-mutect	ASTN1,synonymous_variant,p.=,ENST00000361833,NM_004319.2;ASTN1,synonymous_variant,p.=,ENST00000367657,NM_001286164.1;ASTN1,synonymous_variant,p.=,ENST00000424564,NM_207108.2;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;	A	ENST00000361833	Transcript	synonymous_variant	1700/7116	1686/3885	562/1294	S	tcA/tcT		1		-1	ASTN1	HGNC	HGNC:773	protein_coding	YES	CCDS1319.1	ENSP00000354536	O14525		UPI0000160388	NM_004319.2			10/23		hmmpanther:PTHR16592:SF8,hmmpanther:PTHR16592																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	176958395	176958395	T	A	1	0	0	0	0	0	0	0	1	1211	1567	55	4		4	ASTN1	1	176958395	Silent	SNP	T	C3N-01030_TP	1813929	176958395	71998027	64	22241											
CACNA1E	0	.	GRCh38	chr1	181752229	181752229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaaaccatcaagcgcttgcCcaagctcaaggtagtgttta	13	9	9	10	1	2	0	2	0	0	0	2	1	2	0	2	1	4	4	2	1	7	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.3818C>A	p.Pro1273His	p.P1273H	ENST00000367573	27/48	277	157	120	175	175	0	strelka-varscan-mutect	CACNA1E,missense_variant,p.Pro1254His,ENST00000621791,NM_001205294.1;CACNA1E,missense_variant,p.Pro1273His,ENST00000621551,;CACNA1E,missense_variant,p.Pro1273His,ENST00000367567,;CACNA1E,missense_variant,p.Pro1254His,ENST00000358338,;CACNA1E,missense_variant,p.Pro1273His,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Pro1273His,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Pro1272His,ENST00000357570,;CACNA1E,missense_variant,p.Pro1254His,ENST00000360108,;	A	ENST00000367573	Transcript	missense_variant	3818/7067	3818/6942	1273/2313	P/H	cCc/cAc		1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1	deleterious(0)		27/48		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	181752229	181752229	C	A	1	0	0	0	0	1	0	0	0	2230	623	22	2		2	CACNA1E	1	181752229	Missense_Mutation	SNP	C	C3N-01030_TP	4793834	181752229	67204193	65	22242											
COLGALT2	0	.	GRCh38	chr1	183969350	183969350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggggggtagaaagtcaGcttgtccgaggcctccttcc	6	10	15	10	1	1	1	1	0	0	1	4	2	4	1	4	4	1	2	4	4	2	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.751C>A	p.Leu251Met	p.L251M	ENST00000361927	5/12	159	90	69	146	146	0	strelka-varscan-mutect	COLGALT2,missense_variant,p.Leu251Met,ENST00000361927,NM_001303420.1,NM_015101.3,NM_001303421.1;COLGALT2,upstream_gene_variant,,ENST00000367520,;	T	ENST00000361927	Transcript	missense_variant	1123/5177	751/1881	251/626	L/M	Ctg/Atg		1		-1	COLGALT2	HGNC	HGNC:16790	protein_coding	YES	CCDS1360.1	ENSP00000354960	Q8IYK4		UPI000007423A	NM_001303420.1,NM_015101.3,NM_001303421.1	deleterious(0.01)		5/12		hmmpanther:PTHR10730,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	183969350	183969350	G	T	1	0	0	0	0	1	0	0	0	3504	962	34	2		2	COLGALT2	1	183969350	Missense_Mutation	SNP	G	C3N-01030_TP	2217121	183969350	64987072	66	22243											
BRINP3	0	.	GRCh38	chr1	190160688	190160688	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgtcttggcaggctgatGaggggttgtttatgacacct	6	15	13	7	0	1	3	0	3	1	0	1	3	1	3	1	4	0	4	1	4	1	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1164C>T	p.=	p.L388L	ENST00000367462	7/8	160	137	23	158	158	0	strelka-varscan-mutect	BRINP3,synonymous_variant,p.=,ENST00000367462,NM_199051.1;	A	ENST00000367462	Transcript	synonymous_variant	1649/3142	1164/2301	388/766	L	ctC/ctT		1		-1	BRINP3	HGNC	HGNC:22393	protein_coding	YES	CCDS1373.1	ENSP00000356432	Q76B58		UPI00001C1D9A	NM_199051.1			7/8		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	190160688	190160688	G	A	1	0	0	0	0	0	0	0	1	1687	1277	45	3		3	BRINP3	1	190160688	Silent	SNP	G	C3N-01030_TP	6191338	190160688	58795734	67	22244											
KIF21B	0	.	GRCh38	chr1	201004417	201004417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcaccaccttcttgctCtggtcccctaaggcgctgat	6	11	9	15	2	2	1	0	1	2	0	3	1	3	1	4	2	2	3	4	2	1	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.939G>T	p.Gln313His	p.Q313H	ENST00000422435	7/35	283	259	24	175	175	0	strelka-varscan	KIF21B,missense_variant,p.Gln313His,ENST00000332129,NM_017596.3;KIF21B,missense_variant,p.Gln313His,ENST00000422435,NM_001252100.1;KIF21B,missense_variant,p.Gln313His,ENST00000461742,NM_001252102.1;KIF21B,missense_variant,p.Gln313His,ENST00000360529,NM_001252103.1;KIF21B,non_coding_transcript_exon_variant,,ENST00000534043,;	A	ENST00000422435	Transcript	missense_variant	1256/5519	939/4914	313/1637	Q/H	caG/caT		1		-1	KIF21B	HGNC	HGNC:29442	protein_coding	YES	CCDS58056.1	ENSP00000411831	O75037		UPI0000153E7C	NM_001252100.1	deleterious(0.02)		7/35		PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF335,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	201004417	201004417	C	A	1	0	0	0	0	1	0	0	0	8154	912	32	2		2	KIF21B	1	201004417	Missense_Mutation	SNP	C	C3N-01030_TP	10843729	201004417	47952005	68	22245											
IGFN1	0	.	GRCh38	chr1	201213081	201213081	+	Frame_Shift_Del	DEL	G	G	-																															atgccctcaccccaaaacctGgggagtccggacctcaggga																								novel		C3N-01030_TP	C3N-01030_NB	G	G																c.8191delG	p.Glu2731SerfsTer11	p.E2731Sfs*11	ENST00000335211	12/24	233	120	113	187	187	0	sindel-varindel-pindel	IGFN1,frameshift_variant,p.Glu2731SerfsTer11,ENST00000335211,NM_001164586.1;IGFN1,frameshift_variant,p.Glu149SerfsTer11,ENST00000412892,;IGFN1,intron_variant,,ENST00000295591,;IGFN1,intron_variant,,ENST00000437879,;IGFN1,upstream_gene_variant,,ENST00000473483,;	-	ENST00000335211	Transcript	frameshift_variant	8318/11810	8188/11127	2730/3708	G/X	Ggg/gg		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1			12/24		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF630																	HIGH	1	deletion	5	3		1										PASS		.	.												-	7	5	70	201213081	201213081	G	-	1	0	1	0	1	0	0	0	0	7497	1348	47	0		0	IGFN1	1	201213081	Frame_Shift_Del	DEL	G	C3N-01030_TP	208664	201213081	47743341	69	22246											
ZC3H11A	0	.	GRCh38	chr1	203847456	203847456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaagctaaagattgatagtGaaattaaaaaaacagtagtt	20	11	7	3	0	1	3	1	2	0	1	1	3	1	3	0	0	2	3	0	0	10	6	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1315G>A	p.Glu439Lys	p.E439K	ENST00000545588	12/17	477	421	56	399	399	0	strelka-varscan	ZC3H11A,missense_variant,p.Glu439Lys,ENST00000545588,;ZC3H11A,missense_variant,p.Glu439Lys,ENST00000332127,NM_001319239.1;ZC3H11A,missense_variant,p.Glu439Lys,ENST00000367210,;ZC3H11A,missense_variant,p.Glu439Lys,ENST00000367214,;ZC3H11A,missense_variant,p.Glu439Lys,ENST00000367212,NM_014827.4;ZC3H11A,missense_variant,p.Glu439Lys,ENST00000453771,;ZC3H11A,upstream_gene_variant,,ENST00000488411,;ZC3H11A,missense_variant,p.Glu439Lys,ENST00000495527,;	A	ENST00000545588	Transcript	missense_variant	5142/7979	1315/2433	439/810	E/K	Gaa/Aaa		1		1	ZC3H11A	HGNC	HGNC:29093	protein_coding	YES	CCDS30978.1	ENSP00000438527	O75152		UPI000006F3FD		deleterious(0.01)		12/17		hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	203847456	203847456	G	A	1	0	0	0	0	1	0	0	0	18134	1291	45	3		3	ZC3H11A	1	203847456	Missense_Mutation	SNP	G	C3N-01030_TP	2634375	203847456	45108966	70	22247											
LRRN2	0	.	GRCh38	chr1	204619198	204619198	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggttcttgttgaggtctagGaacttgagcccgggcacctg	6	11	15	9	1	2	2	0	2	2	0	2	3	2	3	2	4	2	3	2	4	2	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.795C>G	p.Phe265Leu	p.F265L	ENST00000367175	1/1	289	259	30	232	232	0	strelka-varscan	LRRN2,missense_variant,p.Phe265Leu,ENST00000367175,;LRRN2,missense_variant,p.Phe265Leu,ENST00000367177,NM_201630.1;LRRN2,missense_variant,p.Phe265Leu,ENST00000367176,NM_006338.2;RP11-430C7.4,downstream_gene_variant,,ENST00000453895,;LRRN2,downstream_gene_variant,,ENST00000496057,;	C	ENST00000367175	Transcript	missense_variant	3008/5036	795/2142	265/713	F/L	ttC/ttG		1		-1	LRRN2	HGNC	HGNC:16914	protein_coding	YES	CCDS1448.1	ENSP00000356143	O75325	A0A024R993	UPI000013E8AC		deleterious(0)		1/1		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF162,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE		SNV				1										PASS		.	.												C	3	2	70	204619198	204619198	G	C	1	0	0	0	0	1	0	0	0	8941	1165	41	4		4	LRRN2	1	204619198	Missense_Mutation	SNP	G	C3N-01030_TP	771742	204619198	44337224	71	22248											
NFASC	0	.	GRCh38	chr1	204954239	204954239	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacatcgccaaggacccccgGgtgtccatgaggaggaggtc	10	5	14	12	2	0	1	0	1	0	0	3	4	1	4	4	5	1	0	4	5	2	0	rs748244825		C3N-01030_TP	C3N-01030_NB	G	G																c.267G>T	p.=	p.R89R	ENST00000339876	6/30	416	376	40	233	232	1	strelka-varscan	NFASC,synonymous_variant,p.=,ENST00000339876,NM_001005388.2;NFASC,synonymous_variant,p.=,ENST00000401399,;NFASC,synonymous_variant,p.=,ENST00000539706,NM_001160332.1;NFASC,synonymous_variant,p.=,ENST00000360049,NM_015090.3;NFASC,synonymous_variant,p.=,ENST00000404076,;NFASC,synonymous_variant,p.=,ENST00000404907,;NFASC,synonymous_variant,p.=,ENST00000430393,NM_001160331.1;NFASC,synonymous_variant,p.=,ENST00000367173,;NFASC,synonymous_variant,p.=,ENST00000513543,;NFASC,synonymous_variant,p.=,ENST00000403080,NM_001160333.1,NM_001005389.1;NFASC,synonymous_variant,p.=,ENST00000505079,;NFASC,non_coding_transcript_exon_variant,,ENST00000404977,;NFASC,upstream_gene_variant,,ENST00000504149,;NFASC,synonymous_variant,p.=,ENST00000504476,;NFASC,non_coding_transcript_exon_variant,,ENST00000514644,;NFASC,upstream_gene_variant,,ENST00000512826,;	T	ENST00000339876	Transcript	synonymous_variant	595/10333	267/3723	89/1240	R	cgG/cgT	rs748244825	1		1	NFASC	HGNC	HGNC:29866	protein_coding	YES	CCDS53460.1	ENSP00000344786	O94856		UPI0000237208	NM_001005388.2			6/30		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF715,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	70	204954239	204954239	G	T	1	0	0	0	0	0	0	0	1	10396	1219	43	2		2	NFASC	1	204954239	Silent	SNP	G	C3N-01030_TP	335041	204954239	44002183	72	22249											
SLC45A3	0	.	GRCh38	chr1	205661968	205661968	+	Missense_Mutation	SNP	G	G	A																															tgtcaccacggccacactgtGggacaggcatgtggcaccgg																								novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1117C>T	p.His373Tyr	p.H373Y	ENST00000367145	4/5	319	292	27	190	189	1	strelka-varscan	SLC45A3,missense_variant,p.His373Tyr,ENST00000367145,NM_033102.2;SLC45A3,non_coding_transcript_exon_variant,,ENST00000460934,;	A	ENST00000367145	Transcript	missense_variant	1413/3341	1117/1662	373/553	H/Y	Cac/Tac		1		-1	SLC45A3	HGNC	HGNC:8642	protein_coding	YES	CCDS1458.1	ENSP00000356113	Q96JT2		UPI0000039836	NM_033102.2	deleterious(0.01)		4/5		Gene3D:1.20.1250.20,hmmpanther:PTHR19432,hmmpanther:PTHR19432:SF37,Low_complexity_(Seg):seg,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	205661968	205661968	G	A	1	0	0	0	0	1	0	0	0	14919	1348	47	3		3	SLC45A3	1	205661968	Missense_Mutation	SNP	G	C3N-01030_TP	707729	205661968	43294454	73	22250	470	2									
SLC45A3	0	.	GRCh38	chr1	205661970	205661970	+	Missense_Mutation	SNP	G	G	A																															tcaccacggccacactgtggGacaggcatgtggcaccggca																								novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1115C>T	p.Ser372Phe	p.S372F	ENST00000367145	4/5	321	293	28	189	189	0	strelka-varscan	SLC45A3,missense_variant,p.Ser372Phe,ENST00000367145,NM_033102.2;SLC45A3,non_coding_transcript_exon_variant,,ENST00000460934,;	A	ENST00000367145	Transcript	missense_variant	1411/3341	1115/1662	372/553	S/F	tCc/tTc		1		-1	SLC45A3	HGNC	HGNC:8642	protein_coding	YES	CCDS1458.1	ENSP00000356113	Q96JT2		UPI0000039836	NM_033102.2	deleterious(0.04)		4/5		Gene3D:1.20.1250.20,hmmpanther:PTHR19432,hmmpanther:PTHR19432:SF37,Low_complexity_(Seg):seg,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	205661970	205661970	G	A	1	0	0	0	0	1	0	0	0	14919	1174	41	3		3	SLC45A3	1	205661970	Missense_Mutation	SNP	G	C3N-01030_TP	2	205661970	43294452	74	22251	470	2									
PLXNA2	0	.	GRCh38	chr1	208096063	208096063	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgtaaaacttgaactCggtgctgacaaatatcttcc	12	12	8	9	1	1	2	0	2	1	0	3	2	2	2	1	1	3	4	1	1	5	5	rs866521000		C3N-01030_TP	C3N-01030_NB	C	C																c.1948G>T	p.Glu650Ter	p.E650*	ENST00000367033	8/32	267	145	122	208	208	0	strelka-varscan	PLXNA2,stop_gained,p.Glu650Ter,ENST00000367033,NM_025179.3;	A	ENST00000367033	Transcript	stop_gained	2706/11444	1948/5685	650/1894	E/*	Gag/Tag	rs866521000	1		-1	PLXNA2	HGNC	HGNC:9100	protein_coding	YES	CCDS31013.1	ENSP00000356000	O75051		UPI000022B239	NM_025179.3			8/32		hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	208096063	208096063	C	A	1	0	0	0	0	0	1	0	0	12226	893	31	1		1	PLXNA2	1	208096063	Nonsense_Mutation	SNP	C	C3N-01030_TP	2434093	208096063	40860359	75	22252											
LAMB3	0	.	GRCh38	chr1	209625992	209625992	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgccttgtcgcagccCgggccctctgttccccggaa	4	9	11	17	3	1	1	0	1	1	0	3	2	2	2	6	2	2	2	6	2	1	2	rs753960912		C3N-01030_TP	C3N-01030_NB	C	C																c.1632G>T	p.=	p.P544P	ENST00000391911	13/22	138	59	79	97	97	0	strelka-varscan	LAMB3,synonymous_variant,p.=,ENST00000391911,NM_001017402.1;LAMB3,synonymous_variant,p.=,ENST00000356082,NM_000228.2;LAMB3,synonymous_variant,p.=,ENST00000367030,NM_001127641.1;LAMB3,upstream_gene_variant,,ENST00000583107,;	A	ENST00000391911	Transcript	synonymous_variant	2022/4305	1632/3519	544/1172	P	ccG/ccT	rs753960912	1		-1	LAMB3	HGNC	HGNC:6490	protein_coding	YES	CCDS1487.1	ENSP00000375778	Q13751	A0A0S2Z3R6	UPI000012E76F	NM_001017402.1			13/22		PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF268,hmmpanther:PTHR10574,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00180,Superfamily_domains:SSF57196,Prints_domain:PR00011																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	209625992	209625992	C	A	1	0	0	0	0	0	0	0	1	8516	639	23	1		1	LAMB3	1	209625992	Silent	SNP	C	C3N-01030_TP	1529929	209625992	39330430	76	22253											
FAM71A	0	.	GRCh38	chr1	212625202	212625202	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccaggccaccaagagaaaaAaacgcaaggcagcaaagaac	20	0	10	11	1	0	2	0	0	0	2	0	3	0	2	3	2	3	3	3	2	7	0	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.325A>C	p.Lys109Gln	p.K109Q	ENST00000294829	1/1	289	272	17	183	183	0	strelka-varscan	FAM71A,missense_variant,p.Lys109Gln,ENST00000294829,NM_153606.3;ATF3,downstream_gene_variant,,ENST00000341491,NM_001674.3;ATF3,downstream_gene_variant,,ENST00000613954,NM_001206488.2,NM_001206484.2;ATF3,downstream_gene_variant,,ENST00000366987,NM_001030287.3;RP11-338C15.5,intron_variant,,ENST00000427949,;ATF3,downstream_gene_variant,,ENST00000492118,;	C	ENST00000294829	Transcript	missense_variant	729/2305	325/1785	109/594	K/Q	Aaa/Caa		1		1	FAM71A	HGNC	HGNC:26541	protein_coding	YES	CCDS1507.1	ENSP00000294829	Q8IYT1		UPI000013E1C2	NM_153606.3	deleterious(0.03)		1/1		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF9,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												C	3	2	70	212625202	212625202	A	C	1	0	0	0	0	1	0	0	0	5471	15	1	5		5	FAM71A	1	212625202	Missense_Mutation	SNP	A	C3N-01030_TP	2999210	212625202	36331220	77	22254											
USH2A	0	.	GRCh38	chr1	215628964	215628964	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttgactcgggatgcgcagGacacatgcactccggttgct	7	11	12	11	3	0	1	0	1	0	0	2	3	1	3	1	3	3	4	1	3	0	3	rs142939648		C3N-01030_TP	C3N-01030_NB	G	G																c.15369C>A	p.=	p.V5123V	ENST00000307340	71/72	327	164	163	251	251	0	strelka-varscan	USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;SNORD116,downstream_gene_variant,,ENST00000365628,;	T	ENST00000307340	Transcript	synonymous_variant	15756/18883	15369/15609	5123/5202	V	gtC/gtA	rs142939648	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			71/72																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	215628964	215628964	G	T	1	0	0	0	0	0	0	0	1	17570	1161	41	2		2	USH2A	1	215628964	Silent	SNP	G	C3N-01030_TP	3003762	215628964	33327458	78	22255											
USH2A	0	.	GRCh38	chr1	215728055	215728055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaaagcatgcacggtaGggctgttaaatgtaggatcg	11	10	14	6	2	0	1	0	1	0	0	1	2	0	2	0	3	2	6	0	3	5	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.12041C>A	p.Pro4014His	p.P4014H	ENST00000307340	61/72	326	301	25	250	250	0	strelka-varscan	USH2A,missense_variant,p.Pro4014His,ENST00000307340,NM_206933.2;	T	ENST00000307340	Transcript	missense_variant	12428/18883	12041/15609	4014/5202	P/H	cCt/cAt		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(0.17)		61/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	215728055	215728055	G	T	1	0	0	0	0	1	0	0	0	17570	1000	35	2		2	USH2A	1	215728055	Missense_Mutation	SNP	G	C3N-01030_TP	99091	215728055	33228367	79	22256											
GPATCH2	0	.	GRCh38	chr1	217611006	217611006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttcccaccagggcacaaCtccagtgataccacatgctc	10	9	6	16	0	0	1	0	1	0	0	3	1	2	1	4	1	3	2	4	1	2	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.901G>T	p.Val301Phe	p.V301F	ENST00000366935	4/10	190	111	79	178	178	0	strelka-varscan	GPATCH2,missense_variant,p.Val301Phe,ENST00000366935,NM_018040.3;GPATCH2,missense_variant,p.Val301Phe,ENST00000366934,NM_001297754.1;GPATCH2,upstream_gene_variant,,ENST00000470014,;GPATCH2,upstream_gene_variant,,ENST00000485274,;	A	ENST00000366935	Transcript	missense_variant	1012/5851	901/1587	301/528	V/F	Gtt/Ttt		1		-1	GPATCH2	HGNC	HGNC:25499	protein_coding	YES	CCDS1518.1	ENSP00000355902	Q9NW75		UPI000004A012	NM_018040.3	tolerated(0.08)		4/10		hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF4																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	70	217611006	217611006	C	A	1	0	0	0	0	1	0	0	0	6491	565	20	2		2	GPATCH2	1	217611006	Missense_Mutation	SNP	C	C3N-01030_TP	1882951	217611006	31345416	80	22257											
GPATCH2	0	.	GRCh38	chr1	217614187	217614187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatccagcatcagtgctgctGagactgctggaatcactgta	11	10	10	10	0	2	1	2	1	0	1	3	3	3	2	1	1	4	5	1	1	3	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.789C>T	p.=	p.L263L	ENST00000366935	3/10	111	99	12	97	97	0	strelka-varscan	GPATCH2,synonymous_variant,p.=,ENST00000366935,NM_018040.3;GPATCH2,synonymous_variant,p.=,ENST00000366934,NM_001297754.1;GPATCH2,upstream_gene_variant,,ENST00000470014,;GPATCH2,upstream_gene_variant,,ENST00000485274,;	A	ENST00000366935	Transcript	synonymous_variant	900/5851	789/1587	263/528	L	ctC/ctT		1		-1	GPATCH2	HGNC	HGNC:25499	protein_coding	YES	CCDS1518.1	ENSP00000355902	Q9NW75		UPI000004A012	NM_018040.3			3/10		hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF4,Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	70	217614187	217614187	G	A	1	0	0	0	0	0	0	0	1	6491	1277	45	3		3	GPATCH2	1	217614187	Silent	SNP	G	C3N-01030_TP	3181	217614187	31342235	81	22258											
SPATA17	0	.	GRCh38	chr1	217683283	217683283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacgatggcgaggctataGggttcggaagtacctcttta	10	10	14	7	3	1	1	0	0	1	1	2	5	1	2	1	4	1	3	1	4	5	6	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.317G>T	p.Arg106Met	p.R106M	ENST00000366933	5/11	140	81	59	162	162	0	strelka-varscan	SPATA17,missense_variant,p.Arg106Met,ENST00000366933,NM_138796.3;SPATA17,3_prime_UTR_variant,,ENST00000470448,;	T	ENST00000366933	Transcript	missense_variant	372/5818	317/1086	106/361	R/M	aGg/aTg		1		1	SPATA17	HGNC	HGNC:25184	protein_coding	YES	CCDS1519.1	ENSP00000355900	Q96L03		UPI00000717C2	NM_138796.3	tolerated(0.1)		5/11		Pfam_domain:PF00612,PROSITE_profiles:PS50096,hmmpanther:PTHR22706,SMART_domains:SM00015,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	217683283	217683283	G	T	1	0	0	0	0	1	0	0	0	15332	1000	35	2		2	SPATA17	1	217683283	Missense_Mutation	SNP	G	C3N-01030_TP	69096	217683283	31273139	82	22259											
EPRS	0	.	GRCh38	chr1	219997046	219997046	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcagcaacttcatcataCagagatttactttccagaat	13	13	6	9	0	2	2	2	0	0	2	3	3	3	2	1	0	5	2	1	0	4	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2478G>T	p.=	p.L826L	ENST00000366923	18/32	114	96	18	136	136	0	strelka-varscan	EPRS,synonymous_variant,p.=,ENST00000366923,NM_004446.2;EPRS,synonymous_variant,p.=,ENST00000609181,;EPRS,downstream_gene_variant,,ENST00000477030,;EPRS,downstream_gene_variant,,ENST00000464052,;	A	ENST00000366923	Transcript	synonymous_variant	2748/5014	2478/4539	826/1512	L	ctG/ctT		1		-1	EPRS	HGNC	HGNC:3418	protein_coding	YES	CCDS31027.1	ENSP00000355890	P07814		UPI0000205E8C	NM_004446.2			18/32		Gene3D:1.10.287.10,Pfam_domain:PF00458,PROSITE_profiles:PS51185,SMART_domains:SM00991,Superfamily_domains:SSF47060																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	219997046	219997046	C	A	1	0	0	0	0	0	0	0	1	5039	465	17	2		2	EPRS	1	219997046	Silent	SNP	C	C3N-01030_TP	2313763	219997046	28959376	83	22260											
MARK1	0	.	GRCh38	chr1	220661907	220661907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggagtatgaagaccactaGttcaatggaccctaatgaca	15	9	9	8	0	1	3	1	2	0	1	1	5	1	5	2	2	0	2	2	2	5	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2132G>T	p.Ser711Ile	p.S711I	ENST00000611084	18/18	198	182	16	214	214	0	strelka-varscan	MARK1,missense_variant,p.Ser711Ile,ENST00000611084,NM_001286124.1;MARK1,missense_variant,p.Ser695Ile,ENST00000402574,NM_001286126.1;MARK1,missense_variant,p.Ser673Ile,ENST00000366918,NM_001286128.1;MARK1,missense_variant,p.Ser710Ile,ENST00000366917,NM_018650.4;	T	ENST00000611084	Transcript	missense_variant	2772/5321	2132/2391	711/796	S/I	aGt/aTt		1		1	MARK1	HGNC	HGNC:6896	protein_coding	YES	CCDS73033.1	ENSP00000483424		A0A087X0I6	UPI0000E592B1	NM_001286124.1	deleterious(0)		18/18		hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF21,Gene3D:3.30.310.80,Superfamily_domains:SSF103243																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	220661907	220661907	G	T	1	0	0	0	0	1	0	0	0	9237	1029	36	2		2	MARK1	1	220661907	Missense_Mutation	SNP	G	C3N-01030_TP	664861	220661907	28294515	84	22261											
CNIH3	0	.	GRCh38	chr1	224730542	224730542	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtggctcacgctggggctGaatgtccctctacttttcta	6	13	11	11	1	3	1	1	1	2	0	4	2	4	1	1	3	1	3	1	3	3	4			C3N-01030_TP	C3N-01030_NB	G	G																c.279G>C	p.=	p.L93L	ENST00000272133	4/6	190	164	26	116	116	0	strelka-varscan	CNIH3,synonymous_variant,p.=,ENST00000272133,NM_152495.1;RP11-3L21.2,non_coding_transcript_exon_variant,,ENST00000431691,;CNIH3,non_coding_transcript_exon_variant,,ENST00000498382,;CNIH3,non_coding_transcript_exon_variant,,ENST00000478120,;CNIH3,non_coding_transcript_exon_variant,,ENST00000481095,;	C	ENST00000272133	Transcript	synonymous_variant	1161/2558	279/483	93/160	L	ctG/ctC	COSM4846406	1		1	CNIH3	HGNC	HGNC:26802	protein_coding	YES	CCDS1544.1	ENSP00000272133	Q8TBE1		UPI0000003FD7	NM_152495.1			4/6		Pfam_domain:PF03311,hmmpanther:PTHR12290,hmmpanther:PTHR12290:SF12,SMART_domains:SM01398,Transmembrane_helices:TMhelix											1						LOW	1	SNV	1		1	1										PASS		.	.												C	2	2	70	224730542	224730542	G	C	1	0	0	0	0	0	0	0	1	3384	1277	45	4		4	CNIH3	1	224730542	Silent	SNP	G	C3N-01030_TP	4068635	224730542	24225880	85	22262											
ENAH	0	.	GRCh38	chr1	225505019	225505019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaatcataggacctgttgtCaaaaacaatctgatttttcc	13	14	6	8	0	3	2	2	2	1	0	4	3	4	3	2	1	1	1	2	1	5	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1573G>A	p.Asp525Asn	p.D525N	ENST00000366844	12/15	123	85	38	151	151	0	strelka-varscan	ENAH,missense_variant,p.Asp525Asn,ENST00000366844,NM_001008493.1;ENAH,intron_variant,,ENST00000635051,;ENAH,intron_variant,,ENST00000366843,NM_018212.4;ENAH,intron_variant,,ENST00000483952,;ENAH,non_coding_transcript_exon_variant,,ENST00000358675,;ENAH,upstream_gene_variant,,ENST00000498108,;	T	ENST00000366844	Transcript	missense_variant	2025/13168	1573/1776	525/591	D/N	Gac/Aac		1		-1	ENAH	HGNC	HGNC:18271	protein_coding	YES	CCDS31041.1	ENSP00000355809	Q8N8S7		UPI0000203FDB	NM_001008493.1	tolerated_low_confidence(0.11)		12/15		hmmpanther:PTHR11202:SF1,hmmpanther:PTHR11202																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	225505019	225505019	C	T	1	0	0	0	0	1	0	0	0	4953	826	29	3		3	ENAH	1	225505019	Missense_Mutation	SNP	C	C3N-01030_TP	774477	225505019	23451403	86	22263											
WNT9A	0	.	GRCh38	chr1	227921926	227921926	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaaaggcgccaactgccgCcagcaggtccgcaccgtgca	9	4	13	15	4	0	0	0	0	0	0	1	1	1	1	5	3	4	3	5	3	2	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.690G>T	p.Trp230Cys	p.W230C	ENST00000272164	4/4	201	179	22	145	145	0	strelka-varscan	WNT9A,missense_variant,p.Trp230Cys,ENST00000272164,NM_003395.2;	A	ENST00000272164	Transcript	missense_variant	701/3971	690/1098	230/365	W/C	tgG/tgT		1		-1	WNT9A	HGNC	HGNC:12778	protein_coding	YES	CCDS31045.1	ENSP00000272164	O14904	D9ZGG3	UPI000005104B	NM_003395.2	deleterious(0)		4/4		Pfam_domain:PF00110,Prints_domain:PR01349,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF75,SMART_domains:SM00097																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	227921926	227921926	C	A	1	0	0	0	0	1	0	0	0	17954	740	26	2		2	WNT9A	1	227921926	Missense_Mutation	SNP	C	C3N-01030_TP	2416907	227921926	21034496	87	22264											
OBSCN	0	.	GRCh38	chr1	228276009	228276009	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccggatgacaagacacaggCcaaactcaccgtggagagtg	13	4	13	11	2	1	3	1	1	0	2	1	5	1	4	3	3	1	0	3	3	2	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.7328C>A	p.Ala2443Asp	p.A2443D	ENST00000570156	25/116	123	109	14	78	78	0	strelka-varscan	OBSCN,missense_variant,p.Ala2443Asp,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Ala2443Asp,ENST00000366707,;OBSCN,missense_variant,p.Ala2068Asp,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Ala2068Asp,ENST00000636875,;OBSCN,missense_variant,p.Ala2068Asp,ENST00000284548,NM_052843.3;OBSCN,upstream_gene_variant,,ENST00000483539,;OBSCN,upstream_gene_variant,,ENST00000366706,;RP5-1139B12.3,non_coding_transcript_exon_variant,,ENST00000602529,;RP5-1139B12.3,non_coding_transcript_exon_variant,,ENST00000602947,;RP5-1139B12.2,upstream_gene_variant,,ENST00000602517,;OBSCN,upstream_gene_variant,,ENST00000366704,;	A	ENST00000570156	Transcript	missense_variant	7402/26925	7328/26772	2443/8923	A/D	gCc/gAc		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	tolerated(0.07)		25/116		PROSITE_profiles:PS50835,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	228276009	228276009	C	A	1	0	0	0	0	1	0	0	0	10889	739	26	2		2	OBSCN	1	228276009	Missense_Mutation	SNP	C	C3N-01030_TP	354083	228276009	20680413	88	22265											
OBSCN	0	.	GRCh38	chr1	228294879	228294879	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaggcggcccccgtggAgtggaggaaggggtctgaga	9	4	20	8	2	1	1	0	1	1	1	1	6	1	4	2	7	1	1	2	7	2	0	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.12782A>G	p.Glu4261Gly	p.E4261G	ENST00000570156	48/116	372	332	40	274	274	0	strelka-varscan	OBSCN,missense_variant,p.Glu4261Gly,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Glu4261Gly,ENST00000366707,;OBSCN,missense_variant,p.Glu3832Gly,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Glu3832Gly,ENST00000636875,;OBSCN,missense_variant,p.Glu3832Gly,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Glu1108Gly,ENST00000483539,;RP5-1139B12.4,downstream_gene_variant,,ENST00000602778,;OBSCN,upstream_gene_variant,,ENST00000602685,;OBSCN,non_coding_transcript_exon_variant,,ENST00000494839,;	G	ENST00000570156	Transcript	missense_variant	12856/26925	12782/26772	4261/8923	E/G	gAg/gGg		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	deleterious(0)		48/116		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF708,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	70	228294879	228294879	A	G	1	0	0	0	0	1	0	0	0	10889	304	11	5		5	OBSCN	1	228294879	Missense_Mutation	SNP	A	C3N-01030_TP	18870	228294879	20661543	89	22266											
TRIM17	0	.	GRCh38	chr1	228414960	228414960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagctcagctggatgcagGctcggcagaagttgtggcca	8	7	14	12	1	1	1	1	0	0	1	2	2	1	2	2	4	3	6	2	4	1	1			C3N-01030_TP	C3N-01030_NB	G	G																c.113C>A	p.Ala38Asp	p.A38D	ENST00000366697	1/6	207	109	98	152	152	0	strelka-varscan	TRIM17,missense_variant,p.Ala38Asp,ENST00000366697,;TRIM17,missense_variant,p.Ala38Asp,ENST00000366698,NM_016102.3;TRIM17,missense_variant,p.Ala38Asp,ENST00000456946,NM_001134855.1;TRIM17,missense_variant,p.Ala38Asp,ENST00000295033,NM_001024940.2;TRIM17,missense_variant,p.Ala11Asp,ENST00000479800,;TRIM17,missense_variant,p.Ala38Asp,ENST00000355586,;TRIM17,missense_variant,p.Ala11Asp,ENST00000457345,;TRIM17,missense_variant,p.Ala38Asp,ENST00000520264,;	T	ENST00000366697	Transcript	missense_variant	1070/2652	113/1434	38/477	A/D	gCc/gAc	COSM1997165,COSM1997166	1		-1	TRIM17	HGNC	HGNC:13430	protein_coding	YES	CCDS1571.1	ENSP00000355658	Q9Y577	A0A024R3T1	UPI000000163B		tolerated(0.26)		1/6		Gene3D:3.30.40.10,Pfam_domain:PF15227,PROSITE_patterns:PS00518,PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF397,SMART_domains:SM00184,Superfamily_domains:SSF57850											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												T	3	4	70	228414960	228414960	G	T	1	0	0	0	0	1	0	0	0	16982	1203	42	2		2	TRIM17	1	228414960	Missense_Mutation	SNP	G	C3N-01030_TP	120081	228414960	20541462	90	22267											
AGT	0	.	GRCh38	chr1	230710425	230710425	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccagatagagagaggccagGgtgccaaagacagccgttgg	12	4	15	10	1	0	4	0	0	0	4	0	5	0	4	4	3	2	1	4	3	2	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.426C>G	p.=	p.T142T	ENST00000366667	2/5	880	779	101	542	542	0	strelka-varscan	AGT,synonymous_variant,p.=,ENST00000366667,NM_000029.3;RP11-99J16__A.2,downstream_gene_variant,,ENST00000412344,;	C	ENST00000366667	Transcript	synonymous_variant	641/2291	426/1458	142/485	T	acC/acG		1		-1	AGT	HGNC	HGNC:333	protein_coding	YES	CCDS1585.1	ENSP00000355627	P01019	B0ZBE2	UPI0000125B13	NM_000029.3			2/5		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF13,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574,Prints_domain:PR00654																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	70	230710425	230710425	G	C	1	0	0	0	0	0	0	0	1	478	1219	43	4		4	AGT	1	230710425	Silent	SNP	G	C3N-01030_TP	2295465	230710425	18245997	91	22268											
C1orf198	0	.	GRCh38	chr1	230868289	230868289	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccggggcgcgcggccccAccaggcaccggtcgatgatc	5	3	16	17	7	0	1	0	1	0	0	2	2	0	1	5	5	0	1	5	5	0	0	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.224T>G	p.Val75Gly	p.V75G	ENST00000366663	1/4	117	56	61	85	85	0	strelka-varscan	C1orf198,missense_variant,p.Val75Gly,ENST00000366663,NM_032800.2;C1orf198,missense_variant,p.Val37Gly,ENST00000470540,NM_001136494.1;C1orf198,missense_variant,p.Val32Gly,ENST00000522201,;C1orf198,intron_variant,,ENST00000427697,;C1orf198,downstream_gene_variant,,ENST00000521263,;	C	ENST00000366663	Transcript	missense_variant	365/3858	224/984	75/327	V/G	gTg/gGg		1		-1	C1orf198	HGNC	HGNC:25900	protein_coding	YES	CCDS1587.1	ENSP00000355623	Q9H425	A0A024R3S1	UPI000006F49A	NM_032800.2	tolerated(0.06)		1/4		Pfam_domain:PF15797,hmmpanther:PTHR34394																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	230868289	230868289	A	C	1	0	0	0	0	1	0	0	0	1979	159	6	5		5	C1orf198	1	230868289	Missense_Mutation	SNP	A	C3N-01030_TP	157864	230868289	18088133	92	22269											
RYR2	0	.	GRCh38	chr1	237589930	237589930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgccgttaatacaaacaggGatattaccatgtggctgagc	12	11	10	8	1	0	1	0	1	0	0	0	2	0	2	2	2	5	2	2	2	5	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.3736G>T	p.Asp1246Tyr	p.D1246Y	ENST00000366574	30/105	312	188	124	293	293	0	strelka-varscan	RYR2,missense_variant,p.Asp1246Tyr,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Asp1230Tyr,ENST00000360064,;	T	ENST00000366574	Transcript	missense_variant	4053/16562	3736/14904	1246/4967	D/Y	Gat/Tat		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		30/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	237589930	237589930	G	T	1	0	0	0	0	1	0	0	0	14029	1174	41	2		2	RYR2	1	237589930	Missense_Mutation	SNP	G	C3N-01030_TP	6721641	237589930	11366492	93	22270											
RYR2	0	.	GRCh38	chr1	237654303	237654303	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatcattatgaaagatgctgGaaatattactgcctgcctgg	13	12	9	7	0	1	2	1	1	0	1	1	3	1	3	2	2	4	1	2	2	6	3			C3N-01030_TP	C3N-01030_NB	G	G																c.7854G>C	p.Trp2618Cys	p.W2618C	ENST00000366574	52/105	201	107	94	153	153	0	strelka-varscan	RYR2,missense_variant,p.Trp2618Cys,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Trp2602Cys,ENST00000360064,;	C	ENST00000366574	Transcript	missense_variant	8171/16562	7854/14904	2618/4967	W/C	tgG/tgC	COSM4608262,COSM4608263	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0.02)		52/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	70	237654303	237654303	G	C	1	0	0	0	0	1	0	0	0	14029	1183	41	4		4	RYR2	1	237654303	Missense_Mutation	SNP	G	C3N-01030_TP	64373	237654303	11302119	94	22271											
KMO	0	.	GRCh38	chr1	241568618	241568618	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgcagctcatgctataGtgccgttttttgggcaagga	9	12	13	7	1	1	1	1	0	0	1	1	3	1	2	1	2	4	5	1	2	3	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.928G>T	p.Val310Leu	p.V310L	ENST00000366559	10/15	201	185	16	141	141	0	strelka-varscan	KMO,missense_variant,p.Val310Leu,ENST00000366559,NM_003679.4;KMO,missense_variant,p.Val310Leu,ENST00000366557,;KMO,missense_variant,p.Val310Leu,ENST00000366558,;KMO,upstream_gene_variant,,ENST00000366555,;KMO,non_coding_transcript_exon_variant,,ENST00000431245,;KMO,downstream_gene_variant,,ENST00000477907,;	T	ENST00000366559	Transcript	missense_variant	1239/5261	928/1461	310/486	V/L	Gtg/Ttg		1		1	KMO	HGNC	HGNC:6381	protein_coding	YES	CCDS1618.1	ENSP00000355517	O15229		UPI000045632A	NM_003679.4	deleterious(0)		10/15		Gene3D:3.50.50.60,HAMAP:MF_01971,Pfam_domain:PF01494,Prints_domain:PR00420,hmmpanther:PTHR13789,hmmpanther:PTHR13789:SF205,Superfamily_domains:SSF51905																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	241568618	241568618	G	T	1	0	0	0	0	1	0	0	0	8294	1029	36	2		2	KMO	1	241568618	Missense_Mutation	SNP	G	C3N-01030_TP	3914315	241568618	7387804	95	22272											
OR14K1	0	.	GRCh38	chr1	247738939	247738939	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtactgctggctggatcaGagattggcatccttactgcc	7	12	12	10	0	1	1	1	0	0	1	2	3	2	2	2	4	4	4	2	4	2	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.325G>T	p.Glu109Ter	p.E109*	ENST00000283225	1/1	465	429	36	343	343	0	strelka-varscan	OR14K1,stop_gained,p.Glu109Ter,ENST00000283225,;RP11-634B7.4,intron_variant,,ENST00000449298,;	T	ENST00000283225	Transcript	stop_gained	325/945	325/945	109/314	E/*	Gag/Tag		1		1	OR14K1	HGNC	HGNC:15025	protein_coding	YES		ENSP00000283225	Q8NGZ2		UPI0000041CBA				1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	HIGH		SNV				1										PASS		.	.												T	4	4	70	247738939	247738939	G	T	1	0	0	0	0	0	1	0	0	11026	943	33	2		2	OR14K1	1	247738939	Nonsense_Mutation	SNP	G	C3N-01030_TP	6170321	247738939	1217483	96	22273											
TRIM58	0	.	GRCh38	chr1	247867860	247867860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggtgtgagaggagtcCtgagcaggtatgtgtgcttt	7	13	16	5	0	1	2	1	2	0	1	2	4	2	3	1	3	2	3	1	3	1	3			C3N-01030_TP	C3N-01030_NB	C	C																c.763C>T	p.=	p.L255L	ENST00000366481	4/6	334	313	21	230	230	0	strelka-varscan	TRIM58,synonymous_variant,p.=,ENST00000366481,NM_015431.3;	T	ENST00000366481	Transcript	synonymous_variant	811/3225	763/1461	255/486	L	Ctg/Ttg	COSM5271583	1		1	TRIM58	HGNC	HGNC:24150	protein_coding	YES	CCDS1636.1	ENSP00000355437	Q8NG06		UPI000020590E	NM_015431.3			4/6		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF393											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	70	247867860	247867860	C	T	1	0	0	0	0	0	0	0	1	17024	680	24	3		3	TRIM58	1	247867860	Silent	SNP	C	C3N-01030_TP	128921	247867860	1088562	97	22274											
OR2T8	0	.	GRCh38	chr1	247921126	247921126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtatcgttttgacctccCtgtttggcaattccctcatg	6	16	8	11	1	1	2	1	2	0	0	4	2	3	2	3	1	0	4	3	1	2	5			C3N-01030_TP	C3N-01030_NB	C	C																c.109C>A	p.Leu37Met	p.L37M	ENST00000319968	1/1	90	56	34	67	67	0	strelka-varscan	OR2T8,missense_variant,p.Leu37Met,ENST00000319968,NM_001005522.1;	A	ENST00000319968	Transcript	missense_variant	109/939	109/939	37/312	L/M	Ctg/Atg	COSM363138	1		1	OR2T8	HGNC	HGNC:15020	protein_coding	YES	CCDS31100.1	ENSP00000326225	A6NH00		UPI00001999E3	NM_001005522.1	tolerated(0.06)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	70	247921126	247921126	C	A	1	0	0	0	0	1	0	0	0	11107	680	24	2		2	OR2T8	1	247921126	Missense_Mutation	SNP	C	C3N-01030_TP	53266	247921126	1035296	98	22275											
SH3BP5L	0	.	GRCh38	chr1	248814584	248814584	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggcccgctcgtaccgcagCgctgccttctgtgtctcctg	3	10	11	17	5	2	0	0	0	2	0	4	0	2	0	4	1	3	4	4	1	1	2	rs756594510		C3N-01030_TP	C3N-01030_NB	C	C																c.402G>T	p.=	p.A134A	ENST00000366472	5/7	298	142	156	166	166	0	strelka-varscan	SH3BP5L,synonymous_variant,p.=,ENST00000366472,NM_030645.1;SH3BP5L,non_coding_transcript_exon_variant,,ENST00000475978,;SH3BP5L,upstream_gene_variant,,ENST00000484202,;SH3BP5L,downstream_gene_variant,,ENST00000494837,;	A	ENST00000366472	Transcript	synonymous_variant	1632/3861	402/1182	134/393	A	gcG/gcT	rs756594510,COSM4030811,COSM4030812	1		-1	SH3BP5L	HGNC	HGNC:29360	protein_coding	YES	CCDS31126.1	ENSP00000355428	Q7L8J4	A0A024R0T2	UPI000003F53A	NM_030645.1			5/7		Low_complexity_(Seg):seg,hmmpanther:PTHR19423,hmmpanther:PTHR19423:SF8,Pfam_domain:PF05276											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		.	.												A	2	1	70	248814584	248814584	C	A	1	0	0	0	0	0	0	0	1	14506	755	27	1		1	SH3BP5L	1	248814584	Silent	SNP	C	C3N-01030_TP	893458	248814584	141838	99	22276											
GREB1	0	.	GRCh38	chr2	11625254	11625254	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgactacatcattcacgaCccgaagtatgaagatgccag	13	10	8	10	2	2	3	2	2	0	1	2	5	2	3	2	0	2	1	2	0	4	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.4248C>A	p.Asp1416Glu	p.D1416E	ENST00000381486	24/33	221	163	58	228	228	0	strelka-varscan-mutect	GREB1,missense_variant,p.Asp1416Glu,ENST00000381486,NM_014668.3;GREB1,missense_variant,p.Asp1416Glu,ENST00000234142,;GREB1,missense_variant,p.Asp414Glu,ENST00000396123,;	A	ENST00000381486	Transcript	missense_variant	4548/8484	4248/5850	1416/1949	D/E	gaC/gaA		1		1	GREB1	HGNC	HGNC:24885	protein_coding	YES	CCDS42655.1	ENSP00000370896	Q4ZG55		UPI0000163937	NM_014668.3	tolerated(0.06)		24/33		Pfam_domain:PF15782,hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13																	MODERATE	1	SNV	5			1										PASS		rs992519368	.												A	3	1	70	11625254	11625254	C	A	1	0	0	0	0	1	0	0	0	6639	506	18	2		2	GREB1	2	11625254	Missense_Mutation	SNP	C	C3N-01030_TP		11625254	230568275	100	22277											
APOB	0	.	GRCh38	chr2	21005708	21005708	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaacttttacagggatGgagaatgaatagccattggg	14	9	12	6	0	0	2	0	1	0	1	0	4	0	3	2	3	3	0	2	3	6	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.11160C>A	p.=	p.S3720S	ENST00000233242	26/29	192	151	41	218	218	0	strelka-varscan	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	T	ENST00000233242	Transcript	synonymous_variant	11288/14121	11160/13692	3720/4563	S	tcC/tcA		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	21005708	21005708	G	T	1	0	0	0	0	0	0	0	1	907	1335	47	2		2	APOB	2	21005708	Silent	SNP	G	C3N-01030_TP	9380454	21005708	221187821	101	22278											
APOB	0	.	GRCh38	chr2	21009203	21009203	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaggttcttagcagcaagAgtccaccaatcagaaatgta	15	9	9	8	0	2	2	1	0	1	2	3	2	3	2	2	1	2	5	2	1	6	4	rs774919897		C3N-01030_TP	C3N-01030_NB	A	A																c.7665T>A	p.=	p.T2555T	ENST00000233242	26/29	299	226	73	297	296	1	strelka-varscan	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;	T	ENST00000233242	Transcript	synonymous_variant	7793/14121	7665/13692	2555/4563	T	acT/acA	rs774919897	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	21009203	21009203	A	T	1	0	0	0	0	0	0	0	1	907	291	11	4		4	APOB	2	21009203	Silent	SNP	A	C3N-01030_TP	3495	21009203	221184326	102	22279											
ATAD2B	0	.	GRCh38	chr2	23823354	23823354	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttccagcagtggtcttaTgatgggggatagtgcatgcc	7	13	13	8	0	2	1	0	1	2	0	3	2	3	2	2	3	3	2	2	3	2	3	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.2035A>T	p.Ile679Leu	p.I679L	ENST00000238789	16/28	335	251	84	302	302	0	strelka-varscan	ATAD2B,missense_variant,p.Ile679Leu,ENST00000238789,NM_017552.3,NM_001242338.2;ATAD2B,upstream_gene_variant,,ENST00000381024,;ATAD2B,downstream_gene_variant,,ENST00000458510,;ATAD2B,non_coding_transcript_exon_variant,,ENST00000474583,;	A	ENST00000238789	Transcript	missense_variant	2379/8103	2035/4377	679/1458	I/L	Ata/Tta		1		-1	ATAD2B	HGNC	HGNC:29230	protein_coding	YES	CCDS46227.1	ENSP00000238789	Q9ULI0		UPI00006C056C	NM_017552.3,NM_001242338.2	tolerated(0.43)		16/28		hmmpanther:PTHR23069:SF5,hmmpanther:PTHR23069																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	23823354	23823354	T	A	1	0	0	0	0	1	0	0	0	1220	1464	51	4		4	ATAD2B	2	23823354	Missense_Mutation	SNP	T	C3N-01030_TP	2814151	23823354	218370175	103	22280											
EMILIN1	0	.	GRCh38	chr2	27080946	27080946	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccccctcagtggactggggGgagaaggtgagtgtgggagc	7	6	20	8	0	1	2	1	1	0	1	1	5	1	4	2	6	1	0	2	6	1	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.505G>T	p.Gly169Ter	p.G169*	ENST00000380320	3/8	73	54	19	51	51	0	strelka-varscan	EMILIN1,stop_gained,p.Gly169Ter,ENST00000380320,NM_007046.3;EMILIN1,upstream_gene_variant,,ENST00000433140,;	T	ENST00000380320	Transcript	stop_gained	1004/3943	505/3051	169/1016	G/*	Gga/Tga		1		1	EMILIN1	HGNC	HGNC:19880	protein_coding	YES	CCDS1733.1	ENSP00000369677		A0A0C4DFX3	UPI0000073B0E	NM_007046.3			3/8		Low_complexity_(Seg):seg,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF1																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	70	27080946	27080946	G	T	1	0	0	0	0	0	1	0	0	4936	1233	43	2		2	EMILIN1	2	27080946	Nonsense_Mutation	SNP	G	C3N-01030_TP	3257592	27080946	215112583	104	22281											
C2orf71	0	.	GRCh38	chr2	29071110	29071110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaacttgggctggtgcGgtggggaagttcgccgcttt	4	11	18	8	3	0	0	0	0	0	0	1	1	0	1	1	6	2	4	1	6	2	3	rs543584326		C3N-01030_TP	C3N-01030_NB	G	G																c.3152C>T	p.Pro1051Leu	p.P1051L	ENST00000331664	1/2	62	50	12	77	77	0	strelka-varscan	C2orf71,missense_variant,p.Pro1051Leu,ENST00000331664,NM_001029883.2;	A	ENST00000331664	Transcript	missense_variant	3152/7044	3152/3867	1051/1288	P/L	cCg/cTg	rs543584326,COSM1198731	1		-1	C2orf71	HGNC	HGNC:34383	protein_coding	YES	CCDS42669.1	ENSP00000332809	A6NGG8		UPI0000251DD8	NM_001029883.2	tolerated(0.18)		1/2		Pfam_domain:PF15449,hmmpanther:PTHR22017,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	2		0,1	1										PASS		.	.												A	3	1	70	29071110	29071110	G	A	1	0	0	0	0	1	0	0	0	2045	1116	39	1		1	C2orf71	2	29071110	Missense_Mutation	SNP	G	C3N-01030_TP	1990164	29071110	213122419	105	22282											
VIT	0	.	GRCh38	chr2	36814296	36814296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacgagtttgacaacctcCatcagtatgtccccaggatc	10	10	9	12	1	1	1	1	1	0	0	4	4	3	3	4	2	1	2	4	2	2	2	rs11901202		C3N-01030_TP	C3N-01030_NB	C	C																c.2017C>T	p.His673Tyr	p.H673Y	ENST00000379242	16/16	215	179	36	194	194	0	strelka-varscan	VIT,missense_variant,p.His673Tyr,ENST00000379242,NM_053276.3;VIT,missense_variant,p.His658Tyr,ENST00000389975,NM_001177969.1;VIT,missense_variant,p.His327Tyr,ENST00000497382,;VIT,missense_variant,p.His636Tyr,ENST00000379241,NM_001177971.1;VIT,missense_variant,p.His610Tyr,ENST00000404084,;VIT,missense_variant,p.His637Tyr,ENST00000401530,NM_001177970.1;	T	ENST00000379242	Transcript	missense_variant	2319/2810	2017/2082	673/693	H/Y	Cat/Tat	rs11901202,COSM130157	1		1	VIT	HGNC	HGNC:12697	protein_coding	YES	CCDS33180.1	ENSP00000368544	Q6UXI7		UPI000006E0F8	NM_053276.3	tolerated(1)		16/16		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF107,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300											0,1						MODERATE	1	SNV	2		0,1	1										PASS		.	.												T	3	4	70	36814296	36814296	C	T	1	0	0	0	0	1	0	0	0	17718	594	21	3		3	VIT	2	36814296	Missense_Mutation	SNP	C	C3N-01030_TP	7743186	36814296	205379233	106	22283											
HEATR5B	0	.	GRCh38	chr2	37070235	37070235	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacgtgttacaaacctgcgTaactccaactctcacttcac	12	11	4	14	2	2	0	2	0	1	0	4	0	3	0	2	0	6	2	2	0	5	4	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.922A>T	p.Thr308Ser	p.T308S	ENST00000233099	7/36	105	82	23	92	92	0	strelka-varscan	HEATR5B,missense_variant,p.Thr308Ser,ENST00000233099,NM_019024.2;HEATR5B,downstream_gene_variant,,ENST00000478810,;	A	ENST00000233099	Transcript	missense_variant	1018/6905	922/6216	308/2071	T/S	Acg/Tcg		1		-1	HEATR5B	HGNC	HGNC:29273	protein_coding	YES	CCDS33181.1	ENSP00000233099	Q9P2D3		UPI0000160DCD	NM_019024.2	tolerated(0.06)		7/36		Gene3D:1.25.10.10,hmmpanther:PTHR21663,hmmpanther:PTHR21663:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	37070235	37070235	T	A	1	0	0	0	0	1	0	0	0	6914	1652	57	4		4	HEATR5B	2	37070235	Missense_Mutation	SNP	T	C3N-01030_TP	255939	37070235	205123294	107	22284											
MAP4K3	0	.	GRCh38	chr2	39272283	39272283	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaaggatgtacccttacCttggcagtattctgtcaggg	8	13	10	10	0	3	0	1	0	2	0	3	1	3	1	2	3	2	3	2	3	4	6			C3N-01030_TP	C3N-01030_NB	C	C																c.1973G>T	p.Arg658Met	p.R658M	ENST00000263881	26/34	107	74	33	144	144	0	strelka-varscan	MAP4K3,missense_variant,p.Arg658Met,ENST00000263881,NM_003618.3;MAP4K3,missense_variant,p.Arg637Met,ENST00000341681,NM_001270425.1;MAP4K3,missense_variant,p.Arg574Met,ENST00000437545,;MAP4K3,non_coding_transcript_exon_variant,,ENST00000495648,;MAP4K3,upstream_gene_variant,,ENST00000475457,;	A	ENST00000263881	Transcript	missense_variant,splice_region_variant	2298/4362	1973/2685	658/894	R/M	aGg/aTg	COSM3581531	1		-1	MAP4K3	HGNC	HGNC:6865	protein_coding	YES	CCDS1803.1	ENSP00000263881	Q8IVH8		UPI00000747E6	NM_003618.3	deleterious(0)		26/34		PROSITE_profiles:PS50219,PIRSF_domain:PIRSF038172,Pfam_domain:PF00780,SMART_domains:SM00036											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	70	39272283	39272283	C	A	1	0	0	0	0	1	0	0	0	9185	695	24	2		2	MAP4K3	2	39272283	Missense_Mutation	SNP	C	C3N-01030_TP	2202048	39272283	202921246	108	22285											
NRXN1	0	.	GRCh38	chr2	50236835	50236835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgaagaactgtccactCgcaccaatacggcttctttc	10	10	7	14	2	1	2	0	1	1	1	4	2	2	2	3	1	3	2	3	1	4	3	rs753212939		C3N-01030_TP	C3N-01030_NB	C	C																c.3620G>T	p.Arg1207Leu	p.R1207L	ENST00000404971	19/24	379	283	96	345	344	1	strelka-varscan	NRXN1,missense_variant,p.Arg1167Leu,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Arg1159Leu,ENST00000625672,;NRXN1,missense_variant,p.Arg1207Leu,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Arg1167Leu,ENST00000401669,;NRXN1,missense_variant,p.Arg1155Leu,ENST00000405472,;NRXN1,missense_variant,p.Arg1159Leu,ENST00000630543,;NRXN1,missense_variant,p.Arg132Leu,ENST00000342183,NM_138735.2;NRXN1,missense_variant,p.Arg132Leu,ENST00000401710,;NRXN1,missense_variant,p.Arg132Leu,ENST00000628364,;NRXN1,missense_variant,p.Arg210Leu,ENST00000625320,;NRXN1,5_prime_UTR_variant,,ENST00000611589,;NRXN1,non_coding_transcript_exon_variant,,ENST00000636298,;NRXN1,non_coding_transcript_exon_variant,,ENST00000637889,;NRXN1,non_coding_transcript_exon_variant,,ENST00000635264,;NRXN1,non_coding_transcript_exon_variant,,ENST00000636736,;NRXN1,downstream_gene_variant,,ENST00000636818,;NRXN1,missense_variant,p.Arg885Leu,ENST00000331040,;NRXN1,missense_variant,p.Arg93Leu,ENST00000637906,;	A	ENST00000404971	Transcript	missense_variant	4960/7578	3620/4644	1207/1547	R/L	cGa/cTa	rs753212939,COSM1142629,COSM1217867,COSM1217868,COSM1217869,COSM1217870,COSM5234606,COSM575416,COSM575417,COSM575418	1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	deleterious(0.03)		19/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899											0,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1,1,1,1,1,1	1										PASS		.	.												A	3	1	70	50236835	50236835	C	A	1	0	0	0	0	1	0	0	0	10724	884	31	1		1	NRXN1	2	50236835	Missense_Mutation	SNP	C	C3N-01030_TP	10964552	50236835	191956694	109	22286											
SPTBN1	0	.	GRCh38	chr2	54618084	54618084	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgttctgcacaggcctgaCctgatagattttgacaaact	10	13	9	9	0	1	4	0	3	1	1	1	4	1	4	2	1	2	3	2	1	2	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.654C>T	p.=	p.D218D	ENST00000356805	7/36	72	53	19	57	57	0	strelka-varscan	SPTBN1,synonymous_variant,p.=,ENST00000615901,;SPTBN1,synonymous_variant,p.=,ENST00000333896,NM_178313.2;SPTBN1,synonymous_variant,p.=,ENST00000356805,NM_003128.2;SPTBN1,synonymous_variant,p.=,ENST00000389980,;	T	ENST00000356805	Transcript	synonymous_variant	935/8482	654/7095	218/2364	D	gaC/gaT		1		1	SPTBN1	HGNC	HGNC:11275	protein_coding	YES	CCDS33198.1	ENSP00000349259	Q01082	B2ZZ89	UPI0000DBEE4B	NM_003128.2			7/36		PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF325,PIRSF_domain:PIRSF002297,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	54618084	54618084	C	T	1	0	0	0	0	0	0	0	1	15475	506	18	3		3	SPTBN1	2	54618084	Silent	SNP	C	C3N-01030_TP	4381249	54618084	187575445	110	22287											
ARHGAP25	0	.	GRCh38	chr2	68807403	68807403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggaatgaagagggcatcttCcgtctgcctgggcaggacaa	10	7	14	10	2	2	2	0	1	2	1	3	4	3	4	2	4	1	2	2	4	3	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.597C>A	p.Phe199Leu	p.F199L	ENST00000409202	5/11	344	262	82	276	275	1	strelka-varscan	ARHGAP25,missense_variant,p.Phe199Leu,ENST00000409202,NM_001007231.2;ARHGAP25,missense_variant,p.Phe192Leu,ENST00000409220,NM_001166276.1;ARHGAP25,missense_variant,p.Phe191Leu,ENST00000409030,NM_014882.2;ARHGAP25,missense_variant,p.Phe159Leu,ENST00000467265,NM_001166277.1;ARHGAP25,missense_variant,p.Phe58Leu,ENST00000497259,;ARHGAP25,missense_variant,p.Phe192Leu,ENST00000497079,;ARHGAP25,non_coding_transcript_exon_variant,,ENST00000456116,;ARHGAP25,non_coding_transcript_exon_variant,,ENST00000485700,;ARHGAP25,missense_variant,p.Phe173Leu,ENST00000463483,;ARHGAP25,missense_variant,p.Ser131Tyr,ENST00000488795,;ARHGAP25,3_prime_UTR_variant,,ENST00000473986,;	A	ENST00000409202	Transcript	missense_variant	962/2945	597/1941	199/646	F/L	ttC/ttA		1		1	ARHGAP25	HGNC	HGNC:28951	protein_coding	YES	CCDS33214.2	ENSP00000386911	P42331		UPI0000251EDD	NM_001007231.2	deleterious(0)		5/11		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF20,SMART_domains:SM00324,Superfamily_domains:SSF48350																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	70	68807403	68807403	C	A	1	0	0	0	0	1	0	0	0	999	854	30	2		2	ARHGAP25	2	68807403	Missense_Mutation	SNP	C	C3N-01030_TP	14189319	68807403	173386126	111	22288											
CLEC4F	0	.	GRCh38	chr2	70809282	70809282	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggttgctcttagttactgaGgatccagggacagggagggg	9	9	17	6	0	1	1	0	1	1	0	2	4	2	4	1	6	2	3	1	6	2	3			C3N-01030_TP	C3N-01030_NB	G	G																c.1759C>G	p.Leu587Val	p.L587V	ENST00000272367	7/7	138	104	34	127	127	0	strelka-varscan	CLEC4F,missense_variant,p.Leu587Val,ENST00000272367,NM_001258027.1,NM_173535.2;CLEC4F,intron_variant,,ENST00000426626,;AC007395.4,downstream_gene_variant,,ENST00000451333,;	C	ENST00000272367	Transcript	missense_variant	1836/2475	1759/1770	587/589	L/V	Ctc/Gtc	COSM5183316	1		-1	CLEC4F	HGNC	HGNC:25357	protein_coding	YES	CCDS1910.1	ENSP00000272367	Q8N1N0		UPI0000376BCC	NM_001258027.1,NM_173535.2	deleterious_low_confidence(0.02)		7/7		SMART_domains:SM00034											1						MODERATE	1	SNV	2		1	1										PASS		.	.												C	3	2	70	70809282	70809282	G	C	1	0	0	0	0	1	0	0	0	3284	1000	35	4		4	CLEC4F	2	70809282	Missense_Mutation	SNP	G	C3N-01030_TP	2001879	70809282	171384247	112	22289											
LRRTM4	0	.	GRCh38	chr2	77518741	77518741	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcagaggtttctggggagtTtggggcaccaggtgtgatct	7	12	16	6	0	3	2	1	1	2	1	3	3	3	3	1	6	0	3	1	6	0	2	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.1128A>T	p.Gln376His	p.Q376H	ENST00000409093	3/4	209	158	51	190	190	0	strelka-varscan	LRRTM4,missense_variant,p.Gln376His,ENST00000409088,NM_024993.4;LRRTM4,missense_variant,p.Gln377His,ENST00000409911,;LRRTM4,missense_variant,p.Gln377His,ENST00000409282,NM_001282928.1;LRRTM4,missense_variant,p.Gln376His,ENST00000409093,NM_001282924.1;LRRTM4,missense_variant,p.Gln376His,ENST00000409884,NM_001134745.1;LRRTM4,downstream_gene_variant,,ENST00000456154,;	A	ENST00000409093	Transcript	missense_variant	1465/2247	1128/1773	376/590	Q/H	caA/caT		1		-1	LRRTM4	HGNC	HGNC:19411	protein_coding	YES	CCDS46346.1	ENSP00000386357	Q86VH4		UPI0000047808	NM_001282924.1	tolerated(0.11)		3/4		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF1																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	70	77518741	77518741	T	A	1	0	0	0	0	1	0	0	0	8948	1838	64	4		4	LRRTM4	2	77518741	Missense_Mutation	SNP	T	C3N-01030_TP	6709459	77518741	164674788	113	22290											
REG1A	0	.	GRCh38	chr2	79121572	79121572	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttttcaggccaagaggcCcagacagagttgccccaggc	9	8	11	13	0	2	3	1	0	1	3	2	3	2	3	4	3	1	1	4	3	1	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.75C>A	p.=	p.A25A	ENST00000233735	3/6	256	194	62	236	236	0	strelka-varscan	REG1A,synonymous_variant,p.=,ENST00000233735,NM_002909.4;REG1A,non_coding_transcript_exon_variant,,ENST00000488524,;REG1A,non_coding_transcript_exon_variant,,ENST00000485184,;REG1A,non_coding_transcript_exon_variant,,ENST00000461579,;	A	ENST00000233735	Transcript	synonymous_variant	178/808	75/501	25/166	A	gcC/gcA		1		1	REG1A	HGNC	HGNC:9951	protein_coding	YES	CCDS1964.1	ENSP00000233735	P05451		UPI000012E72D	NM_002909.4			3/6		hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF55																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	79121572	79121572	C	A	1	0	0	0	0	0	0	0	1	13380	610	22	2		2	REG1A	2	79121572	Silent	SNP	C	C3N-01030_TP	1602831	79121572	163071957	114	22291											
LRRTM1	0	.	GRCh38	chr2	80303613	80303613	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgtagcgcagggacaaGcccagcaggccggacaggtt	9	6	15	11	2	0	0	0	0	0	0	0	2	0	2	2	4	3	5	2	4	2	3	rs778753800		C3N-01030_TP	C3N-01030_NB	G	G																c.207C>A	p.=	p.G69G	ENST00000295057	2/2	116	84	32	101	101	0	strelka-varscan	LRRTM1,synonymous_variant,p.=,ENST00000295057,;LRRTM1,synonymous_variant,p.=,ENST00000409148,NM_178839.4;LRRTM1,synonymous_variant,p.=,ENST00000416268,;LRRTM1,synonymous_variant,p.=,ENST00000452811,;LRRTM1,synonymous_variant,p.=,ENST00000415098,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.2;CTNNA2,intron_variant,,ENST00000629316,NM_001164883.1;CTNNA2,upstream_gene_variant,,ENST00000541047,NM_001282600.1;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,synonymous_variant,p.=,ENST00000433224,;LRRTM1,synonymous_variant,p.=,ENST00000417012,;	T	ENST00000295057	Transcript	synonymous_variant	864/2599	207/1569	69/522	G	ggC/ggA	rs778753800	1		-1	LRRTM1	HGNC	HGNC:19408	protein_coding	YES	CCDS1966.1	ENSP00000295057	Q86UE6		UPI000013E1FE				2/2		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	80303613	80303613	G	T	1	0	0	0	0	0	0	0	1	8945	958	34	2		2	LRRTM1	2	80303613	Silent	SNP	G	C3N-01030_TP	1182041	80303613	161889916	115	22292											
SUCLG1	0	.	GRCh38	chr2	84441284	84441284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgggcccaattagccttGtcttttcctggcgcagcagt	6	13	11	11	1	1	0	0	0	1	0	2	0	2	0	3	2	2	3	3	2	2	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.494C>A	p.Thr165Lys	p.T165K	ENST00000393868	4/9	446	332	114	380	380	0	strelka-varscan	SUCLG1,missense_variant,p.Thr165Lys,ENST00000393868,NM_003849.3;SUCLG1,non_coding_transcript_exon_variant,,ENST00000491642,;SUCLG1,non_coding_transcript_exon_variant,,ENST00000483605,;SUCLG1,non_coding_transcript_exon_variant,,ENST00000430989,;SUCLG1,upstream_gene_variant,,ENST00000488234,;SUCLG1,3_prime_UTR_variant,,ENST00000442240,;	T	ENST00000393868	Transcript	missense_variant	705/1475	494/1041	165/346	T/K	aCa/aAa		1		-1	SUCLG1	HGNC	HGNC:11449	protein_coding	YES	CCDS1967.2	ENSP00000377446	P53597		UPI000014BF59	NM_003849.3	deleterious(0)		4/9		hmmpanther:PTHR11117,TIGRFAM_domain:TIGR01019,PIRSF_domain:PIRSF001553,Gene3D:3.40.50.720,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	84441284	84441284	G	T	1	0	0	0	0	1	0	0	0	15748	1377	48	2		2	SUCLG1	2	84441284	Missense_Mutation	SNP	G	C3N-01030_TP	4137671	84441284	157752245	116	22293											
ANKRD36C	0	.	GRCh38	chr2	95855803	95855803	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagcaagctcttggtcTctttttgatgagtgactttg	8	16	11	6	0	2	3	0	3	2	0	3	4	2	4	0	2	2	2	0	2	2	4	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.4458A>T	p.Arg1486Ser	p.R1486S	ENST00000456556	63/67	398	298	100	453	452	1	strelka-varscan	ANKRD36C,missense_variant,p.Arg1486Ser,ENST00000456556,;ANKRD36C,downstream_gene_variant,,ENST00000295246,;ANKRD36C,upstream_gene_variant,,ENST00000612359,;ANKRD36C,non_coding_transcript_exon_variant,,ENST00000488721,;ANKRD36C,downstream_gene_variant,,ENST00000531153,;ANKRD36C,downstream_gene_variant,,ENST00000534304,;	A	ENST00000456556	Transcript	missense_variant	4543/5428	4458/5337	1486/1778	R/S	agA/agT		1		-1	ANKRD36C	HGNC	HGNC:32946	protein_coding	YES		ENSP00000403302	Q5JPF3		UPI00016620F5		tolerated(0.11)		63/67		hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF1,Pfam_domain:PF14915																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	95855803	95855803	T	A	1	0	0	0	0	1	0	0	0	773	1548	54	4		4	ANKRD36C	2	95855803	Missense_Mutation	SNP	T	C3N-01030_TP	11414519	95855803	146337726	117	22294											
VWA3B	0	.	GRCh38	chr2	98218029	98218029	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcccccagaggctgttcagGtaagagcttggtgggctaag	8	9	14	10	0	1	2	1	0	0	2	2	2	2	2	2	4	1	5	2	4	2	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2019+1G>T		p.X673_splice	ENST00000477737		66	48	18	90	89	1	strelka-varscan	VWA3B,splice_donor_variant,,ENST00000477737,NM_144992.4;VWA3B,splice_donor_variant,,ENST00000473149,;VWA3B,downstream_gene_variant,,ENST00000489968,;VWA3B,splice_donor_variant,,ENST00000432242,;VWA3B,splice_donor_variant,,ENST00000409460,;VWA3B,splice_donor_variant,,ENST00000416277,;VWA3B,splice_donor_variant,,ENST00000495571,;VWA3B,splice_donor_variant,,ENST00000433678,;VWA3B,splice_donor_variant,,ENST00000489630,;VWA3B,splice_donor_variant,,ENST00000448638,;VWA3B,downstream_gene_variant,,ENST00000422503,;	T	ENST00000477737	Transcript	splice_donor_variant	-/4454	2019/3885	673/1294				1		1	VWA3B	HGNC	HGNC:28385	protein_coding	YES	CCDS42718.1	ENSP00000417955	Q502W6		UPI0000E9B173	NM_144992.4				14/27																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	70	98218029	98218029	G	T	1	0	0	0	0	0	0	1	0	17795	1275	44	2		2	VWA3B	2	98218029	Splice_Site	SNP	G	C3N-01030_TP	2362226	98218029	143975500	118	22295											
TBC1D8	0	.	GRCh38	chr2	101033744	101033744	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaccagggtgtgaggcaaGatccgtcaccgcatctgagt	10	8	13	10	2	2	3	1	2	1	1	3	3	3	3	3	2	1	3	3	2	2	1	rs776533987		C3N-01030_TP	C3N-01030_NB	G	G																c.1573C>G	p.Leu525Val	p.L525V	ENST00000376840	10/20	87	72	15	108	108	0	strelka-varscan	TBC1D8,missense_variant,p.Leu540Val,ENST00000409318,;TBC1D8,missense_variant,p.Leu525Val,ENST00000376840,NM_001102426.1;TBC1D8,upstream_gene_variant,,ENST00000481317,;TBC1D8,upstream_gene_variant,,ENST00000473937,;TBC1D8,upstream_gene_variant,,ENST00000485875,;	C	ENST00000376840	Transcript	missense_variant	1573/3627	1573/3423	525/1140	L/V	Ctt/Gtt	rs776533987	1		-1	TBC1D8	HGNC	HGNC:17791	protein_coding	YES	CCDS46375.1	ENSP00000366036	O95759		UPI00015ADD19	NM_001102426.1	deleterious(0.02)		10/20		Gene3D:2qq8A02,Pfam_domain:PF00566,PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF260,SMART_domains:SM00164,Superfamily_domains:SSF47923																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	101033744	101033744	G	C	1	0	0	0	0	1	0	0	0	16030	942	33	4		4	TBC1D8	2	101033744	Missense_Mutation	SNP	G	C3N-01030_TP	2815715	101033744	141159785	119	22296											
MAP4K4	0	.	GRCh38	chr2	101877119	101877119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacaaatggacgtacttgagGgcttgaatgtcttggtgaca	12	11	12	6	1	1	3	0	3	1	0	1	4	1	4	0	3	2	2	0	3	4	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.3025G>T	p.Gly1009Cys	p.G1009C	ENST00000350878	25/31	154	129	25	197	196	1	strelka-varscan	MAP4K4,missense_variant,p.Gly1009Cys,ENST00000350878,NM_145686.3;MAP4K4,missense_variant,p.Gly971Cys,ENST00000324219,NM_001242560.1;MAP4K4,missense_variant,p.Gly1056Cys,ENST00000625522,;MAP4K4,missense_variant,p.Gly893Cys,ENST00000350198,;MAP4K4,missense_variant,p.Gly890Cys,ENST00000413150,;MAP4K4,missense_variant,p.Gly723Cys,ENST00000302217,;MAP4K4,missense_variant,p.Gly1008Cys,ENST00000425019,;MAP4K4,missense_variant,p.Gly906Cys,ENST00000417294,;MAP4K4,missense_variant,p.Gly774Cys,ENST00000456652,;MAP4K4,missense_variant,p.Gly893Cys,ENST00000634702,NM_004834.4,NM_145687.3;MAP4K4,missense_variant,p.Gly975Cys,ENST00000347699,NM_001242559.1;MAP4K4,missense_variant,p.Gly792Cys,ENST00000421882,;MAP4K4,missense_variant,p.Gly780Cys,ENST00000627726,;	T	ENST00000350878	Transcript	missense_variant	3403/7640	3025/3822	1009/1273	G/C	Ggc/Tgc		1		1	MAP4K4	HGNC	HGNC:6866	protein_coding	YES	CCDS74546.1	ENSP00000343658		E7ESS2	UPI0000EE6D9F	NM_145686.3	deleterious_low_confidence(0.01)		25/31		Pfam_domain:PF00780,PROSITE_profiles:PS50219,SMART_domains:SM00036																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	101877119	101877119	G	T	1	0	0	0	0	1	0	0	0	9186	1232	43	2		2	MAP4K4	2	101877119	Missense_Mutation	SNP	G	C3N-01030_TP	843375	101877119	140316410	120	22297											
CNTNAP5	0	.	GRCh38	chr2	124869753	124869753	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggtcactcaccttgggcAaagtcacaggtatgttgttc	10	12	10	9	0	3	0	3	0	0	0	4	0	3	0	1	3	0	4	1	3	3	5	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.3424A>G	p.Lys1142Glu	p.K1142E	ENST00000431078	21/24	119	102	17	137	137	0	strelka-varscan-mutect	CNTNAP5,missense_variant,p.Lys1142Glu,ENST00000431078,NM_130773.3;	G	ENST00000431078	Transcript	missense_variant	3788/5284	3424/3921	1142/1306	K/E	Aaa/Gaa		1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3	deleterious(0)		21/24		PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF665,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	124869753	124869753	A	G	1	0	0	0	0	1	0	0	0	3432	131	5	5		5	CNTNAP5	2	124869753	Missense_Mutation	SNP	A	C3N-01030_TP	22992634	124869753	117323776	121	22298											
CYP27C1	0	.	GRCh38	chr2	127193278	127193278	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtacgatgtggcatagTggcaaagggccagctgggtc	8	8	16	9	1	0	0	0	0	0	0	1	1	0	0	2	5	2	4	2	5	3	2	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.818A>T	p.His273Leu	p.H273L	ENST00000335247	7/8	223	180	43	234	234	0	strelka-varscan-mutect	CYP27C1,missense_variant,p.His273Leu,ENST00000335247,NM_001001665.3;CYP27C1,missense_variant,p.His273Leu,ENST00000409327,;	A	ENST00000335247	Transcript	missense_variant	949/4401	818/1119	273/372	H/L	cAc/cTc		1		-1	CYP27C1	HGNC	HGNC:33480	protein_coding	YES	CCDS33285.1	ENSP00000334128	Q4G0S4	A0A024RAI7	UPI00001995F8	NM_001001665.3	deleterious(0)		7/8		Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF9,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	127193278	127193278	T	A	1	0	0	0	0	1	0	0	0	3963	1696	59	4		4	CYP27C1	2	127193278	Missense_Mutation	SNP	T	C3N-01030_TP	2323525	127193278	115000251	122	22299											
CYP27C1	0	.	GRCh38	chr2	127193819	127193819	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagatacccgccaataacCaggtcttcctgggtgacccg	10	8	9	14	2	2	2	1	1	1	1	3	2	3	2	5	2	2	0	5	2	3	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.768G>T	p.=	p.L256L	ENST00000335247	6/8	201	166	35	170	168	2	strelka-varscan-mutect	CYP27C1,synonymous_variant,p.=,ENST00000335247,NM_001001665.3;CYP27C1,synonymous_variant,p.=,ENST00000409327,;	A	ENST00000335247	Transcript	synonymous_variant	899/4401	768/1119	256/372	L	ctG/ctT		1		-1	CYP27C1	HGNC	HGNC:33480	protein_coding	YES	CCDS33285.1	ENSP00000334128	Q4G0S4	A0A024RAI7	UPI00001995F8	NM_001001665.3			6/8		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF9,Superfamily_domains:SSF48264																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	127193819	127193819	C	A	1	0	0	0	0	0	0	0	1	3963	581	21	2		2	CYP27C1	2	127193819	Silent	SNP	C	C3N-01030_TP	541	127193819	114999710	123	22300											
POTEE	0	.	GRCh38	chr2	131253076	131253076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagccagcaatttcctgaCactgagaatgaagagtatca	16	8	9	8	0	1	4	1	3	0	2	2	6	2	4	2	0	2	2	2	0	5	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1755C>A	p.Asp585Glu	p.D585E	ENST00000356920	13/15	64	52	12	84	84	0	strelka-varscan-mutect	POTEE,missense_variant,p.Asp585Glu,ENST00000356920,NM_001083538.1;POTEE,missense_variant,p.Asp462Glu,ENST00000613282,;POTEE,3_prime_UTR_variant,,ENST00000626191,;PLEKHB2,intron_variant,,ENST00000404460,;POTEE,3_prime_UTR_variant,,ENST00000358087,;POTEE,3_prime_UTR_variant,,ENST00000514256,;	A	ENST00000356920	Transcript	missense_variant	2091/4159	1755/3228	585/1075	D/E	gaC/gaA		1		1	POTEE	HGNC	HGNC:33895	protein_coding	YES	CCDS46414.1	ENSP00000439189	Q6S8J3		UPI0000F58EC8	NM_001083538.1	tolerated_low_confidence(0.21)		13/15		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	131253076	131253076	C	A	1	0	0	0	0	1	0	0	0	12378	477	17	2		2	POTEE	2	131253076	Missense_Mutation	SNP	C	C3N-01030_TP	4059257	131253076	110940453	124	22301											
MZT2A	0	.	GRCh38	chr2	131484089	131484089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccctgcgtagggctcttcCcaggcccgccccccttgggc	2	8	12	19	2	1	0	0	0	1	0	2	0	2	0	6	3	2	2	6	3	1	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.449G>T	p.Gly150Val	p.G150V	ENST00000309451	3/3	110	89	21	98	98	0	strelka-varscan-mutect	MZT2A,missense_variant,p.Gly150Val,ENST00000309451,NM_001085365.1;TUBA3D,downstream_gene_variant,,ENST00000321253,NM_080386.3;MZT2A,non_coding_transcript_exon_variant,,ENST00000410036,;TUBA3D,downstream_gene_variant,,ENST00000409047,;MZT2A,downstream_gene_variant,,ENST00000488586,;MZT2A,intron_variant,,ENST00000445782,;MZT2A,intron_variant,,ENST00000427024,;	A	ENST00000309451	Transcript	missense_variant	495/624	449/477	150/158	G/V	gGg/gTg		1		-1	MZT2A	HGNC	HGNC:33187	protein_coding	YES	CCDS42758.1	ENSP00000311500	Q6P582		UPI0000421BEF	NM_001085365.1	tolerated_low_confidence(0.06)		3/3		hmmpanther:PTHR28578,hmmpanther:PTHR28578:SF1																	MODERATE	1	SNV	1			1										PASS		rs1264352916	.												A	3	1	70	131484089	131484089	C	A	1	0	0	0	0	1	0	0	0	10111	623	22	2		2	MZT2A	2	131484089	Missense_Mutation	SNP	C	C3N-01030_TP	231013	131484089	110709440	125	22302											
ZRANB3	0	.	GRCh38	chr2	135265551	135265551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacgtgagtgaacaaagcttCcttccttaactcttcagaac	12	12	6	11	1	2	3	1	2	1	1	4	3	4	3	2	0	5	1	2	0	5	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1522G>C	p.Glu508Gln	p.E508Q	ENST00000264159	12/21	89	68	21	126	126	0	strelka-varscan-mutect	ZRANB3,missense_variant,p.Glu54Gln,ENST00000536680,NM_001286569.1;ZRANB3,missense_variant,p.Glu508Gln,ENST00000401392,NM_001286568.1;ZRANB3,missense_variant,p.Glu508Gln,ENST00000264159,NM_032143.3;ZRANB3,downstream_gene_variant,,ENST00000452187,;ZRANB3,3_prime_UTR_variant,,ENST00000403017,;	G	ENST00000264159	Transcript	missense_variant	1639/4046	1522/3240	508/1079	E/Q	Gaa/Caa		1		-1	ZRANB3	HGNC	HGNC:25249	protein_coding	YES	CCDS46419.1	ENSP00000264159	Q5FWF4		UPI0000509F0C	NM_032143.3	deleterious(0.01)		12/21		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF731																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	135265551	135265551	C	G	1	0	0	0	0	1	0	0	0	18817	864	30	4		4	ZRANB3	2	135265551	Missense_Mutation	SNP	C	C3N-01030_TP	3781462	135265551	106927978	126	22303											
LRP1B	0	.	GRCh38	chr2	140502968	140502968	+	Frame_Shift_Del	DEL	C	C	-																															tatatatttctgtacctgcaCttttacactttgggtttaaa																										C3N-01030_TP	C3N-01030_NB	C	C																c.8657delG	p.Ser2886MetfsTer42	p.S2886Mfs*42	ENST00000389484	54/91	78	62	16	118	118	0	sindel-varindel-pindel	LRP1B,frameshift_variant,p.Ser2886MetfsTer42,ENST00000389484,NM_018557.2;	-	ENST00000389484	Transcript	frameshift_variant	9629/16535	8657/13800	2886/4599	S/X	aGt/at	COSM3894873	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2			54/91		SMART_domains:SM00192											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	70	140502968	140502968	C	-	1	0	1	0	1	0	0	0	0	8850	579	20	0		0	LRP1B	2	140502968	Frame_Shift_Del	DEL	C	C3N-01030_TP	5237417	140502968	101690561	127	22304											
GALNT13	0	.	GRCh38	chr2	154242748	154242748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaaatttagaagtgccaGtaaaaattattaggatggaa	19	11	9	2	0	0	2	0	1	0	1	0	4	0	4	1	2	1	1	1	2	10	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.529G>A	p.Val177Ile	p.V177I	ENST00000409237	4/12	178	148	30	235	235	0	strelka-mutect	GALNT13,missense_variant,p.Val177Ile,ENST00000392825,NM_052917.3;GALNT13,missense_variant,p.Val177Ile,ENST00000409237,NM_001301627.1;GALNT13,3_prime_UTR_variant,,ENST00000431076,;	A	ENST00000409237	Transcript	missense_variant	529/2591	529/1686	177/561	V/I	Gta/Ata		1		1	GALNT13	HGNC	HGNC:23242	protein_coding	YES	CCDS77472.1	ENSP00000387239	Q8IUC8		UPI0000E4465D	NM_001301627.1	tolerated(0.09)		4/12		Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF47,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	154242748	154242748	G	A	1	0	0	0	0	1	0	0	0	6079	1029	36	3		3	GALNT13	2	154242748	Missense_Mutation	SNP	G	C3N-01030_TP	13739780	154242748	87950781	128	22305											
GALNT13	0	.	GRCh38	chr2	154409046	154409046	+	Frame_Shift_Del	DEL	G	G	-																															cgcaaggaaaatgaaaaagtGggtatattcaactgtcatgg																								novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1361delG	p.Gly454ValfsTer38	p.G454Vfs*38	ENST00000409237	9/12	202	148	54	331	331	0	sindel-varindel-pindel	GALNT13,frameshift_variant,p.Gly454ValfsTer38,ENST00000392825,NM_052917.3;GALNT13,frameshift_variant,p.Gly454ValfsTer38,ENST00000409237,NM_001301627.1;GALNT13,frameshift_variant,p.Gly13ValfsTer83,ENST00000422126,;GALNT13,intron_variant,,ENST00000450838,;GALNT13,non_coding_transcript_exon_variant,,ENST00000487047,;GALNT13,3_prime_UTR_variant,,ENST00000431076,;	-	ENST00000409237	Transcript	frameshift_variant	1359/2591	1359/1686	453/561	V/X	gtG/gt		1		1	GALNT13	HGNC	HGNC:23242	protein_coding	YES	CCDS77472.1	ENSP00000387239	Q8IUC8		UPI0000E4465D	NM_001301627.1			9/12		Gene3D:2.80.10.50,Pfam_domain:PF00652,PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF47,SMART_domains:SM00458,Superfamily_domains:SSF50370																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	70	154409046	154409046	G	-	1	0	1	0	1	0	0	0	0	6079	1335	47	0		0	GALNT13	2	154409046	Frame_Shift_Del	DEL	G	C3N-01030_TP	166298	154409046	87784483	129	22306											
LY75	0	.	GRCh38	chr2	159890335	159890335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tattaaattggtagcaacttCcaaactgctcgttcttttcc	10	16	5	10	1	1	0	0	0	1	0	4	0	3	0	2	1	4	4	2	1	6	8	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.680G>T	p.Gly227Val	p.G227V	ENST00000263636	4/35	234	197	37	303	301	2	strelka-varscan-mutect	LY75,missense_variant,p.Gly227Val,ENST00000263636,NM_002349.3;LY75-CD302,missense_variant,p.Gly227Val,ENST00000504764,NM_001198759.1;LY75-CD302,missense_variant,p.Gly227Val,ENST00000505052,NM_001198760.1;LY75,non_coding_transcript_exon_variant,,ENST00000484559,;	A	ENST00000263636	Transcript	missense_variant	708/6886	680/5169	227/1722	G/V	gGa/gTa		1		-1	LY75	HGNC	HGNC:6729	protein_coding	YES	CCDS2211.1	ENSP00000263636	O60449		UPI00001AE885	NM_002349.3	deleterious(0.01)		4/35		PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF65,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	159890335	159890335	C	A	1	0	0	0	0	1	0	0	0	9010	855	30	2		2	LY75	2	159890335	Missense_Mutation	SNP	C	C3N-01030_TP	5481289	159890335	82303194	130	22307											
UBR3	0	.	GRCh38	chr2	170007180	170007180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagctgcagggacgaccggGagctttcccagtaagcatca	10	6	14	11	2	1	0	1	0	0	0	2	4	2	3	2	3	4	5	2	3	1	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.4220G>T	p.Gly1407Val	p.G1407V	ENST00000418381	28/39	146	111	35	154	154	0	strelka-varscan-mutect	UBR3,missense_variant,p.Gly1407Val,ENST00000272793,;UBR3,missense_variant,p.Gly1407Val,ENST00000418381,NM_172070.3;UBR3,missense_variant,p.Gly465Val,ENST00000392632,;UBR3,missense_variant,p.Gly78Val,ENST00000439681,;UBR3,3_prime_UTR_variant,,ENST00000430321,;UBR3,upstream_gene_variant,,ENST00000444475,;	T	ENST00000418381	Transcript	missense_variant	4220/7951	4220/5667	1407/1888	G/V	gGa/gTa		1		1	UBR3	HGNC	HGNC:30467	protein_coding	YES	CCDS2238.2	ENSP00000396068	Q6ZT12		UPI00015FA088	NM_172070.3	tolerated(0.27)		28/39		hmmpanther:PTHR21497																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	170007180	170007180	G	T	1	0	0	0	0	1	0	0	0	17427	1174	41	2		2	UBR3	2	170007180	Missense_Mutation	SNP	G	C3N-01030_TP	10116845	170007180	72186349	131	22308											
DLX1	0	.	GRCh38	chr2	172085968	172085968	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggcagcgccagcctcgcCcagagccgcctggaggaccc	6	2	14	19	4	0	1	0	0	0	1	1	3	0	3	7	3	3	1	7	3	0	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.291C>A	p.=	p.A97A	ENST00000361725	1/3	79	58	21	76	76	0	strelka-varscan-mutect	DLX1,synonymous_variant,p.=,ENST00000361725,NM_178120.4;DLX1,synonymous_variant,p.=,ENST00000341900,NM_001038493.1;DLX1,synonymous_variant,p.=,ENST00000361609,;DLX1,synonymous_variant,p.=,ENST00000469444,;METAP1D,downstream_gene_variant,,ENST00000315796,NM_199227.1;DLX1,upstream_gene_variant,,ENST00000550686,;DLX1,non_coding_transcript_exon_variant,,ENST00000409492,;DLX1,upstream_gene_variant,,ENST00000475989,;	A	ENST00000361725	Transcript	synonymous_variant	743/2640	291/768	97/255	A	gcC/gcA		1		1	DLX1	HGNC	HGNC:2914	protein_coding	YES	CCDS2247.2	ENSP00000354478	P56177	X5D2F9	UPI0000185FE8	NM_178120.4			1/3		hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF33																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	172085968	172085968	C	A	1	0	0	0	0	0	0	0	1	4377	610	22	2		2	DLX1	2	172085968	Silent	SNP	C	C3N-01030_TP	2078788	172085968	70107561	132	22309											
PDE11A	0	.	GRCh38	chr2	177817896	177817896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcatcaaaaggtttccCatcaagtctgtttaacactt	12	14	5	10	0	4	0	3	0	1	0	5	0	5	0	1	1	2	3	1	1	4	4	rs775354403		C3N-01030_TP	C3N-01030_NB	C	C																c.1606G>T	p.Gly536Trp	p.G536W	ENST00000286063	8/20	200	164	36	293	291	2	strelka-varscan-mutect	PDE11A,missense_variant,p.Gly536Trp,ENST00000286063,NM_016953.3;PDE11A,missense_variant,p.Gly286Trp,ENST00000358450,NM_001077197.1;PDE11A,missense_variant,p.Gly178Trp,ENST00000409504,NM_001077358.1;PDE11A,missense_variant,p.Gly92Trp,ENST00000389683,NM_001077196.1;PDE11A,missense_variant,p.Gly175Trp,ENST00000433879,;PDE11A,non_coding_transcript_exon_variant,,ENST00000497003,;PDE11A,non_coding_transcript_exon_variant,,ENST00000492761,;	A	ENST00000286063	Transcript	missense_variant	1924/9275	1606/2802	536/933	G/W	Ggg/Tgg	rs775354403	1		-1	PDE11A	HGNC	HGNC:8773	protein_coding	YES	CCDS33334.1	ENSP00000286063	Q9HCR9		UPI00001402C1	NM_016953.3	deleterious(0)		8/20		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF130,Gene3D:3.30.450.40,Pfam_domain:PF01590,SMART_domains:SM00065,Superfamily_domains:SSF55781																	MODERATE	1	SNV	1			1										PASS		rs775354403	.												A	3	1	70	177817896	177817896	C	A	1	0	0	0	0	1	0	0	0	11719	594	21	2		2	PDE11A	2	177817896	Missense_Mutation	SNP	C	C3N-01030_TP	5731928	177817896	64375633	133	22310											
TTN	0	.	GRCh38	chr2	178553748	178553748	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaggcttactccagccaaGggtgatggatgacttggttg	9	10	14	8	0	0	2	0	2	0	0	1	4	1	3	2	4	2	2	2	4	2	3			C3N-01030_TP	C3N-01030_NB	G	G																c.89257C>A	p.Leu29753Ile	p.L29753I	ENST00000589042	334/363	77	59	18	72	72	0	strelka-varscan-mutect	TTN,missense_variant,p.Leu29753Ile,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Leu28112Ile,ENST00000591111,;TTN,missense_variant,p.Leu28112Ile,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Leu27185Ile,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Leu20688Ile,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Leu20880Ile,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Leu20813Ile,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.2,downstream_gene_variant,,ENST00000603415,;RP11-65L3.3,upstream_gene_variant,,ENST00000624360,;	T	ENST00000589042	Transcript	missense_variant	89482/109224	89257/107976	29753/35991	L/I	Ctt/Att	COSM3709116,COSM3709117,COSM3709118,COSM3709119	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			334/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265											1,1,1,1						MODERATE		SNV	5		1,1,1,1	1										PASS		.	.												T	3	4	70	178553748	178553748	G	T	1	0	0	0	0	1	0	0	0	17245	1000	35	2		2	TTN	2	178553748	Missense_Mutation	SNP	G	C3N-01030_TP	735852	178553748	63639781	134	22311											
TTN	0	.	GRCh38	chr2	178636499	178636499	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaacatcaatgatgtgcAgctttctgtctttaccatct	9	16	7	9	0	4	2	1	2	3	0	4	2	4	2	1	0	4	3	1	0	3	4	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.41228T>A	p.Leu13743Gln	p.L13743Q	ENST00000589042	225/363	201	166	35	205	205	0	strelka-varscan-mutect	TTN,missense_variant,p.Leu13743Gln,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Leu12102Gln,ENST00000591111,;TTN,missense_variant,p.Leu12102Gln,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Leu11175Gln,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Leu4678Gln,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Leu4870Gln,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Leu4803Gln,ENST00000359218,NM_133432.3;TTN,downstream_gene_variant,,ENST00000414766,;TTN,downstream_gene_variant,,ENST00000446966,;TTN,downstream_gene_variant,,ENST00000426232,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000626954,;TTN-AS1,upstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589907,;TTN-AS1,upstream_gene_variant,,ENST00000418062,;TTN-AS1,downstream_gene_variant,,ENST00000628296,;	T	ENST00000589042	Transcript	missense_variant	41453/109224	41228/107976	13743/35991	L/Q	cTg/cAg		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			225/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	178636499	178636499	A	T	1	0	0	0	0	1	0	0	0	17245	188	7	4		4	TTN	2	178636499	Missense_Mutation	SNP	A	C3N-01030_TP	82751	178636499	63557030	135	22312											
TTN	0	.	GRCh38	chr2	178706513	178706513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcttcctttcatccacCtgtaagttaacattactttc	8	19	3	11	0	2	0	1	0	1	0	5	0	4	0	3	0	2	3	3	0	3	7	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.29361G>A	p.=	p.Q9787Q	ENST00000589042	102/363	146	120	26	148	148	0	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,upstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;	T	ENST00000589042	Transcript	synonymous_variant	29586/109224	29361/107976	9787/35991	Q	caG/caA		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			102/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF10,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	70	178706513	178706513	C	T	1	0	0	0	0	0	0	0	1	17245	680	24	3		3	TTN	2	178706513	Silent	SNP	C	C3N-01030_TP	70014	178706513	63487016	136	22313											
PLCL1	0	.	GRCh38	chr2	198101347	198101347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggaaaagattgtacaGtgtcagaaagcaggtaattg	15	9	12	5	0	1	2	1	0	0	2	2	3	2	3	1	2	2	3	1	2	5	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2982G>T	p.Gln994His	p.Q994H	ENST00000428675	4/6	120	101	19	143	143	0	strelka-varscan-mutect	PLCL1,missense_variant,p.Gln917His,ENST00000437704,;PLCL1,missense_variant,p.Gln994His,ENST00000428675,NM_006226.3;PLCL1,missense_variant,p.Gln920His,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	T	ENST00000428675	Transcript	missense_variant	3380/5125	2982/3288	994/1095	Q/H	caG/caT		1		1	PLCL1	HGNC	HGNC:9063	protein_coding	YES	CCDS2326.2	ENSP00000402861	Q15111		UPI000165BCF5	NM_006226.3	tolerated(0.5)		4/6		hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF102																	MODERATE	1	SNV	1			1										PASS		rs1332018043	.												T	3	4	70	198101347	198101347	G	T	1	0	0	0	0	1	0	0	0	12133	1020	36	2		2	PLCL1	2	198101347	Missense_Mutation	SNP	G	C3N-01030_TP	19394834	198101347	44092182	137	22314											
MPP4	0	.	GRCh38	chr2	201692920	201692920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcacctttagcagagcCtgaagccacggcgagtggag	10	6	13	12	2	1	2	1	1	0	1	1	4	1	3	3	2	3	2	3	2	2	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.189G>A	p.=	p.Q63Q	ENST00000409474	3/22	197	167	30	160	160	0	strelka-varscan-mutect	MPP4,synonymous_variant,p.=,ENST00000409474,NM_033066.2;MPP4,synonymous_variant,p.=,ENST00000359962,;MPP4,synonymous_variant,p.=,ENST00000620095,;MPP4,synonymous_variant,p.=,ENST00000315506,;MPP4,synonymous_variant,p.=,ENST00000428900,;MPP4,synonymous_variant,p.=,ENST00000396886,;MPP4,synonymous_variant,p.=,ENST00000409143,;MPP4,synonymous_variant,p.=,ENST00000447335,;MPP4,synonymous_variant,p.=,ENST00000602867,;MPP4,synonymous_variant,p.=,ENST00000409818,;MPP4,non_coding_transcript_exon_variant,,ENST00000486212,;MPP4,non_coding_transcript_exon_variant,,ENST00000483841,;	T	ENST00000409474	Transcript	synonymous_variant	397/2462	189/1914	63/637	Q	caG/caA		1		-1	MPP4	HGNC	HGNC:13680	protein_coding	YES	CCDS46491.1	ENSP00000387278	Q96JB8		UPI000050A341	NM_033066.2			3/22		PROSITE_profiles:PS51022,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF34,SMART_domains:SM00569																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	201692920	201692920	C	T	1	0	0	0	0	0	0	0	1	9702	680	24	3		3	MPP4	2	201692920	Silent	SNP	C	C3N-01030_TP	3591573	201692920	40500609	138	22315											
ERBB4	0	.	GRCh38	chr2	211422043	211422043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttgagggtctcgagccatCcttgaaaactcagcagccag	10	9	10	12	1	2	2	1	2	1	0	4	3	3	2	3	1	4	1	3	1	2	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2928G>T	p.Arg976Ser	p.R976S	ENST00000342788	24/28	218	177	41	296	296	0	strelka-varscan-mutect	ERBB4,missense_variant,p.Arg976Ser,ENST00000342788,NM_005235.2;ERBB4,missense_variant,p.Arg976Ser,ENST00000436443,NM_001042599.1;ERBB4,missense_variant,p.Arg950Ser,ENST00000402597,;	A	ENST00000342788	Transcript	missense_variant	3239/12136	2928/3927	976/1308	R/S	agG/agT		1		-1	ERBB4	HGNC	HGNC:3432	protein_coding	YES	CCDS2394.1	ENSP00000342235	Q15303		UPI00000499DF	NM_005235.2	deleterious(0.05)		24/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF90,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	211422043	211422043	C	A	1	0	0	0	0	1	0	0	0	5057	854	30	2		2	ERBB4	2	211422043	Missense_Mutation	SNP	C	C3N-01030_TP	9729123	211422043	30771486	139	22316											
ERBB4	0	.	GRCh38	chr2	211624045	211624045	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagttaatggttccaccaaCtgcaaagcggaaagaagaag	16	6	12	7	1	0	2	0	0	0	2	1	4	1	4	2	3	3	3	2	3	6	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2080-1G>T		p.X694_splice	ENST00000342788		260	239	21	288	288	0	strelka-varscan-mutect	ERBB4,splice_acceptor_variant,,ENST00000342788,NM_005235.2;ERBB4,splice_acceptor_variant,,ENST00000436443,NM_001042599.1;ERBB4,splice_acceptor_variant,,ENST00000402597,;ERBB4,splice_acceptor_variant,,ENST00000260943,;ERBB4,splice_acceptor_variant,,ENST00000484594,;	A	ENST00000342788	Transcript	splice_acceptor_variant	-/12136	2080/3927	694/1308				1		-1	ERBB4	HGNC	HGNC:3432	protein_coding	YES	CCDS2394.1	ENSP00000342235	Q15303		UPI00000499DF	NM_005235.2				17/27																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	70	211624045	211624045	C	A	1	0	0	0	0	0	0	1	0	5057	579	20	2		2	ERBB4	2	211624045	Splice_Site	SNP	C	C3N-01030_TP	202002	211624045	30569484	140	22317											
CUL3	0	.	GRCh38	chr2	224513640	224513640	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatttcttattgcgcctcTgtcgaaaaaagttattatca	12	15	6	8	2	3	0	1	0	2	0	4	1	3	0	1	0	2	2	1	0	6	5			C3N-01030_TP	C3N-01030_NB	T	T																c.540-2A>T		p.X180_splice	ENST00000264414		95	72	23	122	121	1	strelka-varscan-mutect	CUL3,splice_acceptor_variant,,ENST00000264414,NM_003590.4;CUL3,splice_acceptor_variant,,ENST00000344951,NM_001257197.1;CUL3,splice_acceptor_variant,,ENST00000409777,;CUL3,splice_acceptor_variant,,ENST00000409096,NM_001257198.1;CUL3,downstream_gene_variant,,ENST00000436172,;CUL3,splice_acceptor_variant,,ENST00000541548,;CUL3,splice_acceptor_variant,,ENST00000432260,;CUL3,upstream_gene_variant,,ENST00000484081,;	A	ENST00000264414	Transcript	splice_acceptor_variant	-/6741	540/2307	180/768			COSM720511	1		-1	CUL3	HGNC	HGNC:2553	protein_coding	YES	CCDS2462.1	ENSP00000264414	Q13618	A0A024R475	UPI0000001C83	NM_003590.4				4/15												1						HIGH	1	SNV	1		1	1										PASS		.	.												A	5	1	70	224513640	224513640	T	A	1	0	0	0	0	0	0	1	0	3866	1594	55	4		4	CUL3	2	224513640	Splice_Site	SNP	T	C3N-01030_TP	12889595	224513640	17679889	141	22318											
COL4A3	0	.	GRCh38	chr2	227283795	227283795	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgattgggatgatgggCtttcctggagccattggccc	6	11	16	8	0	0	2	0	2	0	0	1	5	1	5	3	5	1	1	3	5	0	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2685C>A	p.=	p.G895G	ENST00000396578	33/52	252	196	56	271	268	3	strelka-varscan-mutect	COL4A3,synonymous_variant,p.=,ENST00000396578,NM_000091.4;AC097662.2,intron_variant,,ENST00000439598,;AC097662.2,intron_variant,,ENST00000396588,;AC097662.2,intron_variant,,ENST00000433324,;COL4A3,upstream_gene_variant,,ENST00000487633,;	A	ENST00000396578	Transcript	synonymous_variant	2847/8097	2685/5013	895/1670	G	ggC/ggA		1		1	COL4A3	HGNC	HGNC:2204	protein_coding	YES	CCDS42829.1	ENSP00000379823	Q01955		UPI000013E9F3	NM_000091.4			33/52		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF598,Pfam_domain:PF01391,Pfam_domain:PF01391																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	227283795	227283795	C	A	1	0	0	0	0	0	0	0	1	3480	784	28	2		2	COL4A3	2	227283795	Silent	SNP	C	C3N-01030_TP	2770155	227283795	14909734	142	22319											
EFHD1	0	.	GRCh38	chr2	232662850	232662850	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacctgatggagctgaagctGatgatggagaagctgggggc	10	7	18	6	0	0	5	0	4	0	1	0	8	0	6	1	4	3	3	1	4	2	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.351G>A	p.=	p.L117L	ENST00000264059	2/4	154	146	8	135	135	0	strelka-varscan-mutect	EFHD1,synonymous_variant,p.=,ENST00000264059,NM_025202.3;EFHD1,synonymous_variant,p.=,ENST00000409708,;EFHD1,synonymous_variant,p.=,ENST00000410095,;EFHD1,synonymous_variant,p.=,ENST00000611312,;EFHD1,synonymous_variant,p.=,ENST00000409613,NM_001243252.1;EFHD1,synonymous_variant,p.=,ENST00000427698,;EFHD1,3_prime_UTR_variant,,ENST00000442845,;	A	ENST00000264059	Transcript	synonymous_variant	828/2259	351/720	117/239	L	ctG/ctA		1		1	EFHD1	HGNC	HGNC:29556	protein_coding	YES	CCDS2497.1	ENSP00000264059	Q9BUP0		UPI00001362A7	NM_025202.3			2/4		Low_complexity_(Seg):seg,PROSITE_profiles:PS50222,hmmpanther:PTHR13025:SF5,hmmpanther:PTHR13025,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	232662850	232662850	G	A	1	0	0	0	0	0	0	0	1	4783	1277	45	3		3	EFHD1	2	232662850	Silent	SNP	G	C3N-01030_TP	5379055	232662850	9530679	143	22320											
SAG	0	.	GRCh38	chr2	233335053	233335053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaggagaggcattgccctgGatgggaaaatcaagcacgag	15	5	14	7	1	1	1	1	0	0	1	1	5	1	3	1	4	2	2	1	4	4	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.898G>T	p.Asp300Tyr	p.D300Y	ENST00000409110	11/16	122	91	31	117	117	0	strelka-varscan-mutect	SAG,missense_variant,p.Asp300Tyr,ENST00000409110,NM_000541.4;SAG,non_coding_transcript_exon_variant,,ENST00000476500,;SAG,non_coding_transcript_exon_variant,,ENST00000469222,;SAG,non_coding_transcript_exon_variant,,ENST00000471884,;SAG,non_coding_transcript_exon_variant,,ENST00000412969,;SAG,non_coding_transcript_exon_variant,,ENST00000483231,;SAG,non_coding_transcript_exon_variant,,ENST00000473771,;SAG,upstream_gene_variant,,ENST00000474220,;	T	ENST00000409110	Transcript	missense_variant	1128/1591	898/1218	300/405	D/Y	Gat/Tat		1		1	SAG	HGNC	HGNC:10521	protein_coding	YES	CCDS46545.1	ENSP00000386444	P10523		UPI000013CD8D	NM_000541.4	deleterious(0)		11/16		hmmpanther:PTHR11792:SF15,hmmpanther:PTHR11792,Gene3D:1g4mB02,Pfam_domain:PF02752,SMART_domains:SM01017,Superfamily_domains:SSF81296,Prints_domain:PR00309																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	233335053	233335053	G	T	1	0	0	0	0	1	0	0	0	14067	1174	41	2		2	SAG	2	233335053	Missense_Mutation	SNP	G	C3N-01030_TP	672203	233335053	8858476	144	22321											
UGT1A3	0	.	GRCh38	chr2	233729318	233729318	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggtcctcaccccagaGgtgaatatgcacatcaaaga	13	7	10	11	0	2	3	2	1	0	2	3	3	3	3	3	2	1	2	3	2	3	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.192G>A	p.=	p.E64E	ENST00000482026	1/5	148	123	25	144	144	0	strelka-varscan-mutect	UGT1A3,synonymous_variant,p.=,ENST00000482026,NM_019093.2;UGT1A6,intron_variant,,ENST00000305139,NM_001072.3;UGT1A9,intron_variant,,ENST00000354728,NM_021027.2;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A4,intron_variant,,ENST00000373409,NM_007120.2;UGT1A5,intron_variant,,ENST00000373414,NM_019078.1;UGT1A7,intron_variant,,ENST00000373426,NM_019077.2;UGT1A10,intron_variant,,ENST00000373445,;UGT1A6,intron_variant,,ENST00000373424,NM_205862.1;UGT1A6,intron_variant,,ENST00000406651,;UGT1A6,intron_variant,,ENST00000480628,;UGT1A6,intron_variant,,ENST00000478062,;UGT1A4,intron_variant,,ENST00000450233,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A6,intron_variant,,ENST00000484784,;	A	ENST00000482026	Transcript	synonymous_variant	211/2364	192/1605	64/534	E	gaG/gaA		1		1	UGT1A3	HGNC	HGNC:12535	protein_coding	YES	CCDS2509.1	ENSP00000418532	P35503	Q5DT01	UPI0000001045	NM_019093.2			1/5		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF173,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	233729318	233729318	G	A	1	0	0	0	0	0	0	0	1	17471	991	35	3		3	UGT1A3	2	233729318	Silent	SNP	G	C3N-01030_TP	394265	233729318	8464211	145	22322											
HJURP	0	.	GRCh38	chr2	233841451	233841451	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggactcaggcaatattcCcgatgaagctgatcaaatcg	12	9	10	10	2	2	2	2	2	0	0	4	4	3	3	1	2	1	2	1	2	4	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1329G>C	p.=	p.R443R	ENST00000411486	8/9	297	227	70	297	297	0	strelka-varscan-mutect	HJURP,synonymous_variant,p.=,ENST00000411486,NM_018410.4;HJURP,synonymous_variant,p.=,ENST00000432087,NM_001282962.1;HJURP,synonymous_variant,p.=,ENST00000441687,NM_001282963.1;HJURP,synonymous_variant,p.=,ENST00000414924,;HJURP,downstream_gene_variant,,ENST00000454020,;HJURP,downstream_gene_variant,,ENST00000434039,;HJURP,upstream_gene_variant,,ENST00000433484,;HJURP,downstream_gene_variant,,ENST00000453122,;HJURP,downstream_gene_variant,,ENST00000373395,;	G	ENST00000411486	Transcript	synonymous_variant	1395/3187	1329/2247	443/748	R	cgG/cgC		1		-1	HJURP	HGNC	HGNC:25444	protein_coding	YES	CCDS33406.1	ENSP00000414109	Q8NCD3		UPI000013CB29	NM_018410.4			8/9		hmmpanther:PTHR15992,hmmpanther:PTHR15992:SF5,Pfam_domain:PF12347																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	70	233841451	233841451	C	G	1	0	0	0	0	0	0	0	1	7078	610	22	4		4	HJURP	2	233841451	Silent	SNP	C	C3N-01030_TP	112133	233841451	8352078	146	22323											
COL6A3	0	.	GRCh38	chr2	237334789	237334789	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgggctgaggtgacggtGaggtcataaaaataaggacc	13	8	14	6	1	2	3	2	3	0	0	2	4	2	4	1	5	0	1	1	5	4	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.9066C>A	p.=	p.L3022L	ENST00000295550	41/44	283	233	50	267	267	0	strelka-varscan-mutect	COL6A3,synonymous_variant,p.=,ENST00000295550,NM_004369.3;COL6A3,synonymous_variant,p.=,ENST00000353578,NM_057167.3;COL6A3,synonymous_variant,p.=,ENST00000409809,;COL6A3,synonymous_variant,p.=,ENST00000472056,NM_057166.4;COL6A3,synonymous_variant,p.=,ENST00000347401,;COL6A3,upstream_gene_variant,,ENST00000473258,;COL6A3,upstream_gene_variant,,ENST00000493608,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;COL6A3,downstream_gene_variant,,ENST00000468792,;	T	ENST00000295550	Transcript	synonymous_variant	9519/10749	9066/9534	3022/3177	L	ctC/ctA		1		-1	COL6A3	HGNC	HGNC:2213	protein_coding	YES	CCDS33412.1	ENSP00000295550	P12111	D9ZGF2	UPI0000456F39	NM_004369.3			41/44		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	237334789	237334789	G	T	1	0	0	0	0	0	0	0	1	3490	1277	45	2		2	COL6A3	2	237334789	Silent	SNP	G	C3N-01030_TP	3493338	237334789	4858740	147	22324											
UBE2F	0	.	GRCh38	chr2	237987965	237987965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttctttgtttctacagagGttgcagaacttgaagctaat	11	16	8	6	0	2	3	0	1	2	2	2	3	2	3	0	1	4	4	0	1	4	7	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.121G>T	p.Val41Phe	p.V41F	ENST00000612130	3/10	53	38	15	91	91	0	strelka-varscan-mutect	UBE2F,missense_variant,p.Val41Phe,ENST00000612130,NM_001278305.1;UBE2F,missense_variant,p.Val41Phe,ENST00000272930,NM_080678.2;UBE2F,missense_variant,p.Val41Phe,ENST00000409332,;UBE2F,missense_variant,p.Val17Phe,ENST00000409953,NM_001278306.1;UBE2F,missense_variant,p.Val41Phe,ENST00000409633,NM_001278308.1;UBE2F,missense_variant,p.Val41Phe,ENST00000434655,;UBE2F,missense_variant,p.Val41Phe,ENST00000448502,;UBE2F,intron_variant,,ENST00000414443,NM_001278307.1;UBE2F,intron_variant,,ENST00000416292,;UBE2F,intron_variant,,ENST00000434137,;UBE2F-SCLY,missense_variant,p.Val41Phe,ENST00000449891,;UBE2F,missense_variant,p.Val41Phe,ENST00000441728,;UBE2F-SCLY,missense_variant,p.Val41Phe,ENST00000449191,;UBE2F,missense_variant,p.Val41Phe,ENST00000439338,;UBE2F,missense_variant,p.Val17Phe,ENST00000445676,;UBE2F,missense_variant,p.Val41Phe,ENST00000433241,;UBE2F,missense_variant,p.Val41Phe,ENST00000455999,;UBE2F,missense_variant,p.Val41Phe,ENST00000433568,;UBE2F,missense_variant,p.Val41Phe,ENST00000439780,;UBE2F,splice_region_variant,,ENST00000454786,;UBE2F,splice_region_variant,,ENST00000417231,;UBE2F,splice_region_variant,,ENST00000440223,;	T	ENST00000612130	Transcript	missense_variant,splice_region_variant	254/2135	121/558	41/185	V/F	Gtt/Ttt		1		1	UBE2F	HGNC	HGNC:12480	protein_coding	YES	CCDS2523.1	ENSP00000478474	Q969M7		UPI000007332C	NM_001278305.1	deleterious(0.03)		3/10		PROSITE_profiles:PS50127,hmmpanther:PTHR24067:SF152,hmmpanther:PTHR24067,Gene3D:3.10.110.10,Pfam_domain:PF00179,SMART_domains:SM00212,Superfamily_domains:SSF54495																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	70	237987965	237987965	G	T	1	0	0	0	0	1	0	0	0	17376	1275	44	2		2	UBE2F	2	237987965	Missense_Mutation	SNP	G	C3N-01030_TP	653176	237987965	4205564	148	22325											
AQP12B	0	.	GRCh38	chr2	240682457	240682457	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccagcagaggcgcgtcagGgtgcaggcggcctgcatgcc	6	4	17	14	3	1	1	1	0	0	1	1	1	1	1	3	4	4	3	3	4	0	0	rs780283546		C3N-01030_TP	C3N-01030_NB	G	G																c.381C>A	p.=	p.T127T	ENST00000407834	1/3	169	133	36	156	155	1	strelka-varscan-mutect	AQP12B,synonymous_variant,p.=,ENST00000407834,NM_001102467.1;AQP12B,synonymous_variant,p.=,ENST00000621682,;AC011298.2,upstream_gene_variant,,ENST00000407635,;AQP12B,upstream_gene_variant,,ENST00000459806,;AQP12B,missense_variant,p.Pro31Thr,ENST00000414322,;AQP12B,missense_variant,p.Pro31Thr,ENST00000413999,;AQP12B,missense_variant,p.Pro31Thr,ENST00000452886,;	T	ENST00000407834	Transcript	synonymous_variant	444/1094	381/924	127/307	T	acC/acA	rs780283546	1		-1	AQP12B	HGNC	HGNC:6096	protein_coding	YES	CCDS46560.1	ENSP00000384894	A6NM10		UPI0000F705B9	NM_001102467.1			1/3		hmmpanther:PTHR21191:SF8,hmmpanther:PTHR21191,PIRSF_domain:PIRSF017529,Pfam_domain:PF00230,Gene3D:1.20.1080.10,Superfamily_domains:SSF81338,Prints_domain:PR02025																	LOW	1	SNV	1			1										PASS		rs780283546	.												T	2	4	70	240682457	240682457	G	T	1	0	0	0	0	0	0	0	1	948	1219	43	2		2	AQP12B	2	240682457	Silent	SNP	G	C3N-01030_TP	2694492	240682457	1511072	149	22326											
KIF1A	0	.	GRCh38	chr2	240720936	240720936	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcagtggcaccgtaccGcccttcaaccagagaggggc	9	5	13	14	2	2	1	2	0	0	1	2	2	2	1	4	4	2	2	4	4	2	2	rs368124753		C3N-01030_TP	C3N-01030_NB	G	G																c.4846C>A	p.=	p.R1616R	ENST00000498729	45/49	51	42	9	43	43	0	strelka-varscan-mutect	KIF1A,synonymous_variant,p.=,ENST00000498729,NM_001244008.1;KIF1A,synonymous_variant,p.=,ENST00000320389,NM_004321.6;KIF1A,downstream_gene_variant,,ENST00000404283,;KIF1A,downstream_gene_variant,,ENST00000431776,;KIF1A,non_coding_transcript_exon_variant,,ENST00000460788,;KIF1A,non_coding_transcript_exon_variant,,ENST00000492812,;KIF1A,non_coding_transcript_exon_variant,,ENST00000465813,;KIF1A,upstream_gene_variant,,ENST00000488776,;	T	ENST00000498729	Transcript	synonymous_variant	5093/9223	4846/5376	1616/1791	R	Cgg/Agg	rs368124753,COSM1018761,COSM3782163	1		-1	KIF1A	HGNC	HGNC:888	protein_coding	YES	CCDS58757.1	ENSP00000438388	Q12756		UPI0002065B81	NM_001244008.1			45/49													0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs368124753	.												T	2	4	70	240720936	240720936	G	T	1	0	0	0	0	0	0	0	1	8147	1086	38	1		1	KIF1A	2	240720936	Silent	SNP	G	C3N-01030_TP	38479	240720936	1472593	150	22327											
KIF1A	0	.	GRCh38	chr2	240783059	240783059	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccatttcagccagggcGgagatgaccttgcccagggt	8	8	12	13	1	2	2	2	1	0	1	2	3	2	2	4	3	2	0	4	3	0	2	rs187442951		C3N-01030_TP	C3N-01030_NB	G	G																c.849C>G	p.=	p.S283S	ENST00000498729	9/49	273	210	63	247	247	0	strelka-varscan-mutect	KIF1A,synonymous_variant,p.=,ENST00000498729,NM_001244008.1;KIF1A,synonymous_variant,p.=,ENST00000320389,NM_004321.6;KIF1A,synonymous_variant,p.=,ENST00000404283,;KIF1A,synonymous_variant,p.=,ENST00000428768,;	C	ENST00000498729	Transcript	synonymous_variant	1096/9223	849/5376	283/1791	S	tcC/tcG	rs187442951	1		-1	KIF1A	HGNC	HGNC:888	protein_coding	YES	CCDS58757.1	ENSP00000438388	Q12756		UPI0002065B81	NM_001244008.1			9/49		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF361,SMART_domains:SM00129,Superfamily_domains:SSF52540										uncertain_significance							LOW	1	SNV	1		1	1										PASS		rs187442951	.												C	2	2	70	240783059	240783059	G	C	1	0	0	0	0	0	0	0	1	8147	1103	39	4		4	KIF1A	2	240783059	Silent	SNP	G	C3N-01030_TP	62123	240783059	1410470	151	22328											
NEU4	0	.	GRCh38	chr2	241815084	241815084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtggccagccgtgacGccggcctctcgtggggcagc	3	7	17	14	4	1	1	0	1	1	0	2	1	1	1	4	4	2	2	4	4	0	0	rs766104247		C3N-01030_TP	C3N-01030_NB	G	G																c.433G>T	p.Ala145Ser	p.A145S	ENST00000325935	3/4	92	73	19	73	73	0	strelka-varscan-mutect	NEU4,missense_variant,p.Ala132Ser,ENST00000391969,NM_001167602.2;NEU4,missense_variant,p.Ala144Ser,ENST00000404257,NM_080741.3;NEU4,missense_variant,p.Ala145Ser,ENST00000325935,NM_001167599.2;NEU4,missense_variant,p.Ala132Ser,ENST00000407683,NM_001167601.2,NM_001167600.2;NEU4,missense_variant,p.Ala132Ser,ENST00000405370,;NEU4,missense_variant,p.Ala132Ser,ENST00000420288,;NEU4,missense_variant,p.Ala132Ser,ENST00000423583,;NEU4,intron_variant,,ENST00000415936,;NEU4,intron_variant,,ENST00000426032,;NEU4,downstream_gene_variant,,ENST00000428592,;NEU4,downstream_gene_variant,,ENST00000435894,;NEU4,downstream_gene_variant,,ENST00000435934,;AC114730.3,upstream_gene_variant,,ENST00000413820,;AC114730.3,upstream_gene_variant,,ENST00000420272,;AC114730.3,upstream_gene_variant,,ENST00000439270,;NEU4,missense_variant,p.Ala132Ser,ENST00000435855,;NEU4,non_coding_transcript_exon_variant,,ENST00000618597,;NEU4,downstream_gene_variant,,ENST00000488997,;NEU4,downstream_gene_variant,,ENST00000476542,;NEU4,downstream_gene_variant,,ENST00000494678,;	T	ENST00000325935	Transcript	missense_variant	862/2288	433/1494	145/497	A/S	Gcc/Tcc	rs766104247	1		1	NEU4	HGNC	HGNC:21328	protein_coding	YES	CCDS54441.1	ENSP00000320318	Q8WWR8		UPI0000EE378E	NM_001167599.2	tolerated(0.21)		3/4		Gene3D:2.120.10.10,Pfam_domain:PF13088,hmmpanther:PTHR10628,hmmpanther:PTHR10628:SF22,Superfamily_domains:SSF50939																	MODERATE	1	SNV	1			1										PASS		rs766104247	.												T	3	4	70	241815084	241815084	G	T	1	0	0	0	0	1	0	0	0	10379	1087	38	1		1	NEU4	2	241815084	Missense_Mutation	SNP	G	C3N-01030_TP	1032025	241815084	378445	152	22329											
PDCD1	0	.	GRCh38	chr2	241852301	241852301	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagggtttggaactggccGgctggcctgggtgaggggct	5	8	19	9	1	0	1	0	1	0	0	0	2	0	2	3	8	1	3	3	8	1	1	rs770113678		C3N-01030_TP	C3N-01030_NB	G	G																c.489C>A	p.=	p.A163A	ENST00000334409	3/5	63	52	11	68	68	0	strelka-varscan-mutect	PDCD1,synonymous_variant,p.=,ENST00000334409,NM_005018.2;PDCD1,intron_variant,,ENST00000343705,;PDCD1,3_prime_UTR_variant,,ENST00000418831,;	T	ENST00000334409	Transcript	synonymous_variant	559/2114	489/867	163/288	A	gcC/gcA	rs770113678	1		-1	PDCD1	HGNC	HGNC:8760	protein_coding	YES	CCDS33428.1	ENSP00000335062	Q15116	A0A0M3M0G7	UPI0000061E11	NM_005018.2			3/5		hmmpanther:PTHR15264																	LOW	1	SNV	1			1										PASS		rs770113678	.												T	2	4	70	241852301	241852301	G	T	1	0	0	0	0	0	0	0	1	11703	1103	39	1		1	PDCD1	2	241852301	Silent	SNP	G	C3N-01030_TP	37217	241852301	341228	153	22330											
CNTN6	0	.	GRCh38	chr3	1352404	1352404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatatacatgcatagccaCaaatcagtttggcactgcaa	15	10	6	10	0	2	0	2	0	0	0	2	0	2	0	1	1	4	4	1	1	5	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1445C>A	p.Thr482Lys	p.T482K	ENST00000446702	12/23	81	66	15	79	79	0	strelka-varscan-mutect	CNTN6,missense_variant,p.Thr482Lys,ENST00000446702,;CNTN6,missense_variant,p.Thr482Lys,ENST00000350110,NM_014461.3,NM_001289080.1,NM_001289081.1;CNTN6,3_prime_UTR_variant,,ENST00000397479,;	A	ENST00000446702	Transcript	missense_variant	2072/4513	1445/3087	482/1028	T/K	aCa/aAa		1		1	CNTN6	HGNC	HGNC:2176	protein_coding	YES	CCDS2557.1	ENSP00000407822	Q9UQ52	A0A024R2C7	UPI0000072430		tolerated(0.47)		12/23		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF52,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	1352404	1352404	C	A	1	0	0	0	0	1	0	0	0	3426	478	17	2		2	CNTN6	3	1352404	Missense_Mutation	SNP	C	C3N-01030_TP		1352404	196943155	154	22331											
GRM7	0	.	GRCh38	chr3	6861821	6861821	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcgaaccgccggttttcGtcaagccggagaaagtagtt	10	8	13	10	6	1	1	1	0	0	1	2	3	1	1	3	3	2	3	3	3	4	4			C3N-01030_TP	C3N-01030_NB	G	G																c.433G>C	p.Val145Leu	p.V145L	ENST00000357716	1/10	207	163	44	170	170	0	strelka-varscan-mutect	GRM7,missense_variant,p.Val145Leu,ENST00000486284,NM_181874.2;GRM7,missense_variant,p.Val145Leu,ENST00000357716,NM_000844.3;GRM7,missense_variant,p.Val145Leu,ENST00000389336,;GRM7,intron_variant,,ENST00000448328,;GRM7,missense_variant,p.Val145Leu,ENST00000467425,;GRM7,missense_variant,p.Val145Leu,ENST00000440923,;GRM7,missense_variant,p.Val145Leu,ENST00000389335,;GRM7,intron_variant,,ENST00000443259,;GRM7,upstream_gene_variant,,ENST00000435689,;	C	ENST00000357716	Transcript	missense_variant	707/4127	433/2748	145/915	V/L	Gtc/Ctc	COSM1253836	1		1	GRM7	HGNC	HGNC:4599	protein_coding	YES	CCDS43042.1	ENSP00000350348	Q14831		UPI000004A7E3	NM_000844.3	tolerated(0.29)		1/10		Low_complexity_(Seg):seg,hmmpanther:PTHR24060:SF98,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822											1						MODERATE	1	SNV	1		1	1										PASS		rs1055345234	.												C	3	2	70	6861821	6861821	G	C	1	0	0	0	0	1	0	0	0	6684	1145	40	4		4	GRM7	3	6861821	Missense_Mutation	SNP	G	C3N-01030_TP	5509417	6861821	191433738	155	22332											
FANCD2	0	.	GRCh38	chr3	10094362	10094362	+	Frame_Shift_Del	DEL	G	G	-																															cttcagttttagaaaacaccGggtaagagctaagagcagag																								rs147205530		C3N-01030_TP	C3N-01030_NB	G	G																c.3963+1delG			ENST00000287647	40/43	410	314	96	431	431	0	sindel-varindel-pindel	FANCD2,frameshift_variant,,ENST00000287647,NM_033084.3;FANCD2,frameshift_variant,,ENST00000419585,NM_001319984.1;FANCD2,frameshift_variant,,ENST00000383807,NM_001018115.1;FANCD2OS,intron_variant,,ENST00000524279,NM_173472.1;FANCD2,intron_variant,,ENST00000470028,;FANCD2OS,intron_variant,,ENST00000436517,;FANCD2OS,intron_variant,,ENST00000431315,;FANCD2,splice_region_variant,,ENST00000421731,;	-	ENST00000287647	Transcript	frameshift_variant,splice_region_variant	4055/5219	3962/4416	1321/1471	R/X	cGg/cg	rs147205530,COSM215886	1		1	FANCD2	HGNC	HGNC:3585	protein_coding	YES	CCDS2595.1	ENSP00000287647	Q9BXW9		UPI000006F678	NM_033084.3			40/43		hmmpanther:PTHR32086,Pfam_domain:PF14631											0,1						HIGH	1	deletion	1	2	0,1	1										PASS		.	.												-	7	5	70	10094362	10094362	G	-	1	0	1	0	1	0	0	0	0	5524	1130	39	0		0	FANCD2	3	10094362	Frame_Shift_Del	DEL	G	C3N-01030_TP	3232541	10094362	188201197	156	22333											
ATP2B2	0	.	GRCh38	chr3	10342782	10342782	+	Frame_Shift_Del	DEL	G	G	-																															cagggtgaagatgagggcaaGctggtagacagcatggccca																								novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2887delC	p.Ala964ProfsTer41	p.A964Pfs*41	ENST00000360273	19/23	326	252	74	281	281	0	sindel-varindel-pindel	ATP2B2,frameshift_variant,p.Ala919ProfsTer41,ENST00000397077,;ATP2B2,frameshift_variant,p.Ala964ProfsTer41,ENST00000360273,NM_001001331.2;ATP2B2,frameshift_variant,p.Ala919ProfsTer41,ENST00000383800,NM_001683.3;ATP2B2,frameshift_variant,p.Ala964ProfsTer41,ENST00000352432,;ATP2B2,frameshift_variant,p.Ala820ProfsTer41,ENST00000452124,;ATP2B2,frameshift_variant,p.Ala919ProfsTer41,ENST00000460129,;	-	ENST00000360273	Transcript	frameshift_variant	3326/8962	2887/3732	963/1243	L/X	Ctt/tt		1		-1	ATP2B2	HGNC	HGNC:815	protein_coding	YES	CCDS33701.1	ENSP00000353414	Q01814	A0A024R2K6	UPI00001261EF	NM_001001331.2			19/23		Superfamily_domains:0049473,Gene3D:1.20.1110.10,Pfam_domain:PF00689,TIGRFAM_domain:TIGR01517,Transmembrane_helices:TMhelix																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	70	10342782	10342782	G	-	1	0	1	0	1	0	0	0	0	1293	971	34	0		0	ATP2B2	3	10342782	Frame_Shift_Del	DEL	G	C3N-01030_TP	248420	10342782	187952777	157	22334											
FBLN2	0	.	GRCh38	chr3	13637648	13637648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagctcaacttccagaCgggcctcctggtgcctgcgc	6	8	10	17	2	1	1	1	0	0	1	3	1	3	1	5	2	5	1	5	2	2	2	rs200284680		C3N-01030_TP	C3N-01030_NB	C	C																c.3425C>T	p.Thr1142Met	p.T1142M	ENST00000404922	18/18	137	98	39	120	120	0	strelka-varscan-mutect	FBLN2,missense_variant,p.Thr1142Met,ENST00000404922,NM_001004019.1;FBLN2,missense_variant,p.Thr1142Met,ENST00000492059,NM_001165035.1;FBLN2,missense_variant,p.Thr1095Met,ENST00000295760,NM_001998.2;FBLN2,intron_variant,,ENST00000295761,;FBLN2,intron_variant,,ENST00000421373,;	T	ENST00000404922	Transcript	missense_variant	3544/4318	3425/3696	1142/1231	T/M	aCg/aTg	rs200284680	1		1	FBLN2	HGNC	HGNC:3601	protein_coding	YES	CCDS46761.1	ENSP00000384169	P98095		UPI000042B0C1	NM_001004019.1	deleterious(0)		18/18		hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF303																	MODERATE	1	SNV	5			1										PASS		rs200284680	.												T	3	4	70	13637648	13637648	C	T	1	0	0	0	0	1	0	0	0	5562	536	19	1		1	FBLN2	3	13637648	Missense_Mutation	SNP	C	C3N-01030_TP	3294866	13637648	184657911	158	22335											
TGFBR2	0	.	GRCh38	chr3	30644911	30644911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaggaagtctgtgtggctGtatggtaagcaagcctttta	10	12	12	7	0	1	0	0	0	1	0	1	1	1	1	1	3	2	4	1	3	5	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.334G>T	p.Val112Leu	p.V112L	ENST00000359013	3/8	267	206	61	305	305	0	strelka-varscan-mutect	TGFBR2,missense_variant,p.Val87Leu,ENST00000295754,NM_003242.5;TGFBR2,missense_variant,p.Val112Leu,ENST00000359013,NM_001024847.2;	T	ENST00000359013	Transcript	missense_variant	617/4605	334/1779	112/592	V/L	Gta/Tta		1		1	TGFBR2	HGNC	HGNC:11773	protein_coding	YES	CCDS33727.1	ENSP00000351905	P37173	D2JYI1	UPI000053030E	NM_001024847.2	tolerated(0.11)		3/8		hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF55,PIRSF_domain:PIRSF037393,Gene3D:2.10.60.10,Pfam_domain:PF08917,Superfamily_domains:SSF57302																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	30644911	30644911	G	T	1	0	0	0	0	1	0	0	0	16255	1391	48	2		2	TGFBR2	3	30644911	Missense_Mutation	SNP	G	C3N-01030_TP	17007263	30644911	167650648	159	22336											
OSBPL10	0	.	GRCh38	chr3	31733332	31733332	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttatgttggcactggcTgatggcaaagagccaagtgt	10	10	14	7	0	0	2	0	1	0	1	0	2	0	2	1	4	1	5	1	4	3	2	rs546090839		C3N-01030_TP	C3N-01030_NB	T	T																c.1020A>T	p.=	p.S340S	ENST00000396556	6/12	165	130	35	162	162	0	strelka-varscan-mutect	OSBPL10,synonymous_variant,p.=,ENST00000429492,;OSBPL10,synonymous_variant,p.=,ENST00000396556,NM_017784.4;OSBPL10,synonymous_variant,p.=,ENST00000438237,NM_001174060.1;OSBPL10,synonymous_variant,p.=,ENST00000428241,;OSBPL10,non_coding_transcript_exon_variant,,ENST00000467647,;	A	ENST00000396556	Transcript	synonymous_variant	1143/6600	1020/2295	340/764	S	tcA/tcT	rs546090839	1		-1	OSBPL10	HGNC	HGNC:16395	protein_coding	YES	CCDS2651.1	ENSP00000379804	Q9BXB5		UPI0000130E9B	NM_017784.4			6/12		hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF47																	LOW	1	SNV	1			1										PASS		rs546090839	.												A	2	1	70	31733332	31733332	T	A	1	0	0	0	0	0	0	0	1	11341	1567	55	4		4	OSBPL10	3	31733332	Silent	SNP	T	C3N-01030_TP	1088421	31733332	166562227	160	22337											
MYRIP	0	.	GRCh38	chr3	40209858	40209858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctggctttcatttaggtgtCggatgatttatcagagacag	9	15	11	6	1	3	2	2	1	1	1	4	4	3	3	0	3	0	1	0	3	2	5	rs201954262		C3N-01030_TP	C3N-01030_NB	C	C																c.1670C>T	p.Ser557Leu	p.S557L	ENST00000302541	11/17	110	90	20	110	110	0	strelka-varscan-mutect	MYRIP,missense_variant,p.Ser557Leu,ENST00000302541,NM_015460.3;MYRIP,missense_variant,p.Ser468Leu,ENST00000396217,NM_001284425.1;MYRIP,missense_variant,p.Ser370Leu,ENST00000539167,NM_001284426.1;MYRIP,missense_variant,p.Ser557Leu,ENST00000425621,NM_001284424.1;MYRIP,missense_variant,p.Ser557Leu,ENST00000444716,NM_001284423.1;EIF1B-AS1,intron_variant,,ENST00000625390,;RN7SL411P,downstream_gene_variant,,ENST00000585204,;MYRIP,non_coding_transcript_exon_variant,,ENST00000459828,;MYRIP,missense_variant,p.Ser557Leu,ENST00000458292,;MYRIP,3_prime_UTR_variant,,ENST00000458441,;	T	ENST00000302541	Transcript	missense_variant	2012/5077	1670/2580	557/859	S/L	tCg/tTg	rs201954262	1		1	MYRIP	HGNC	HGNC:19156	protein_coding	YES	CCDS2689.1	ENSP00000301972	Q8NFW9		UPI0000074787	NM_015460.3	tolerated(0.66)		11/17		Pfam_domain:PF04698,hmmpanther:PTHR14555,hmmpanther:PTHR14555:SF6																	MODERATE	1	SNV	1			1										PASS		rs201954262	.												T	3	4	70	40209858	40209858	C	T	1	0	0	0	0	1	0	0	0	10103	898	31	1		1	MYRIP	3	40209858	Missense_Mutation	SNP	C	C3N-01030_TP	8476526	40209858	158085701	161	22338											
CCK	0	.	GRCh38	chr3	42258151	42258151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acggccaaaatccatccagcCcatgtagtcccggtcactta	11	8	7	15	2	1	0	1	0	0	0	4	0	4	0	5	2	1	1	5	2	4	2			C3N-01030_TP	C3N-01030_NB	C	C																c.295G>A	p.Gly99Ser	p.G99S	ENST00000396169	5/5	173	134	39	151	151	0	strelka-varscan-mutect	CCK,missense_variant,p.Gly99Ser,ENST00000396169,NM_000729.4;CCK,missense_variant,p.Gly99Ser,ENST00000334681,;CCK,missense_variant,p.Gly99Ser,ENST00000434608,NM_001174138.1;CCK,downstream_gene_variant,,ENST00000484359,;	T	ENST00000396169	Transcript	missense_variant	1201/1527	295/348	99/115	G/S	Ggc/Agc	COSM5481815	1		-1	CCK	HGNC	HGNC:1569	protein_coding	YES	CCDS2696.1	ENSP00000379472	P06307	Q6FG82	UPI00001272C3	NM_000729.4	deleterious(0)		5/5		Pfam_domain:PF00918,PROSITE_patterns:PS00259,hmmpanther:PTHR10786,SMART_domains:SM00029											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	70	42258151	42258151	C	T	1	0	0	0	0	1	0	0	0	2577	623	22	3		3	CCK	3	42258151	Missense_Mutation	SNP	C	C3N-01030_TP	2048293	42258151	156037408	162	22339											
ZNF445	0	.	GRCh38	chr3	44449562	44449562	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagctgcctgcatgttCaggccccatggctcccttgc	4	10	12	15	0	1	1	1	1	0	0	2	1	2	1	4	3	4	5	4	3	0	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.882G>T	p.=	p.L294L	ENST00000396077	7/8	282	233	49	221	221	0	strelka-varscan-mutect	ZNF445,synonymous_variant,p.=,ENST00000396077,NM_181489.5;ZNF445,synonymous_variant,p.=,ENST00000425708,;ZNF445,downstream_gene_variant,,ENST00000617032,;ZNF445,downstream_gene_variant,,ENST00000460529,;	A	ENST00000396077	Transcript	synonymous_variant	1230/18299	882/3096	294/1031	L	ctG/ctT		1		-1	ZNF445	HGNC	HGNC:21018	protein_coding	YES	CCDS2713.1	ENSP00000379387	P59923		UPI000019AD12	NM_181489.5			7/8		PROSITE_profiles:PS50805,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF214																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	44449562	44449562	C	A	1	0	0	0	0	0	0	0	1	18489	813	29	2		2	ZNF445	3	44449562	Silent	SNP	C	C3N-01030_TP	2191411	44449562	153845997	163	22340											
PTH1R	0	.	GRCh38	chr3	46903317	46903317	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccgctggacactggcactGgacttcaagcgaaaggcacg	11	5	13	12	3	1	0	1	0	0	0	1	3	1	2	1	4	2	3	1	4	2	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1443G>T	p.=	p.L481L	ENST00000313049	14/14	251	192	59	167	167	0	strelka-varscan-mutect	PTH1R,synonymous_variant,p.=,ENST00000313049,;PTH1R,synonymous_variant,p.=,ENST00000449590,NM_000316.2;PTH1R,synonymous_variant,p.=,ENST00000418619,;PTH1R,synonymous_variant,p.=,ENST00000430002,NM_001184744.1;PTH1R,synonymous_variant,p.=,ENST00000427125,;PTH1R,synonymous_variant,p.=,ENST00000422115,;PTH1R,downstream_gene_variant,,ENST00000490109,;PTH1R,3_prime_UTR_variant,,ENST00000428220,;	T	ENST00000313049	Transcript	synonymous_variant	1646/2123	1443/1782	481/593	L	ctG/ctT		1		1	PTH1R	HGNC	HGNC:9608	protein_coding	YES	CCDS2747.1	ENSP00000321999	Q03431	A0A024R2Z8	UPI000005041F				14/14		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF24,Prints_domain:PR00393																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	46903317	46903317	G	T	1	0	0	0	0	0	0	0	1	12914	1335	47	2		2	PTH1R	3	46903317	Silent	SNP	G	C3N-01030_TP	2453755	46903317	151392242	164	22341											
NBEAL2	0	.	GRCh38	chr3	46998195	46998195	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcttcaactttcacctCtggaccctcagtgacttcgc	6	14	6	15	1	5	1	3	1	2	0	6	2	5	2	2	1	2	1	2	1	1	4	rs373998295		C3N-01030_TP	C3N-01030_NB	C	C																c.3087C>A	p.=	p.L1029L	ENST00000450053	21/54	276	225	51	258	257	1	strelka-varscan-mutect	NBEAL2,synonymous_variant,p.=,ENST00000450053,NM_015175.2;NBEAL2,synonymous_variant,p.=,ENST00000416683,;NBEAL2,upstream_gene_variant,,ENST00000443829,;NBEAL2,upstream_gene_variant,,ENST00000475689,;	A	ENST00000450053	Transcript	synonymous_variant	3266/8827	3087/8265	1029/2754	L	ctC/ctA	rs373998295	1		1	NBEAL2	HGNC	HGNC:31928	protein_coding	YES	CCDS46817.1	ENSP00000415034	Q6ZNJ1		UPI000022C020	NM_015175.2			21/54		Low_complexity_(Seg):seg,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF50,Pfam_domain:PF15787																	LOW	1	SNV	2			1										PASS		rs373998295	.												A	2	1	70	46998195	46998195	C	A	1	0	0	0	0	0	0	0	1	10200	900	32	2		2	NBEAL2	3	46998195	Silent	SNP	C	C3N-01030_TP	94878	46998195	151297364	165	22342											
PTPN23	0	.	GRCh38	chr3	47412909	47412909	+	Frame_Shift_Del	DEL	G	G	-																															ccaatcccatcttcctccccGccccccctttcctccccact																								rs6789730,rs745364634		C3N-01030_TP	C3N-01030_NB	G	G																c.4635delG	p.Leu1548PhefsTer36	p.L1548Ffs*36	ENST00000265562	25/25	100	62	38	67	66	1	sindel-varindel	PTPN23,frameshift_variant,p.Leu1548PhefsTer36,ENST00000265562,NM_001304482.1,NM_015466.3;SCAP,downstream_gene_variant,,ENST00000265565,NM_012235.2;SCAP,downstream_gene_variant,,ENST00000428413,;SCAP,downstream_gene_variant,,ENST00000545718,;PTPN23,3_prime_UTR_variant,,ENST00000602307,;SCAP,downstream_gene_variant,,ENST00000441517,NM_001320044.1;SCAP,downstream_gene_variant,,ENST00000320017,;PTPN23,downstream_gene_variant,,ENST00000495653,;	-	ENST00000265562	Transcript	frameshift_variant	4712/5244	4635/4911	1545/1636	P/X	ccG/cc	rs6789730,rs745364634,COSM1423600	1		1	PTPN23	HGNC	HGNC:14406	protein_coding	YES	CCDS2754.1	ENSP00000265562	Q9H3S7		UPI000006EBC4	NM_001304482.1,NM_015466.3			25/25		Low_complexity_(Seg):seg,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF333											0,0,1						HIGH	1	deletion	1		0,0,1	1										PASS		.	.												-	7	5	70	47412909	47412909	G	-	1	0	1	0	1	0	0	0	0	12942	1074	38	0		0	PTPN23	3	47412909	Frame_Shift_Del	DEL	G	C3N-01030_TP	414714	47412909	150882650	166	22343											
CADPS	0	.	GRCh38	chr3	62645793	62645793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acctccattgtgcaatatacGatgcgatttggagccaaaga	13	10	9	9	2	0	1	0	0	0	1	1	4	1	2	3	1	4	1	3	1	4	4			C3N-01030_TP	C3N-01030_NB	G	G																c.1254C>G	p.Ile418Met	p.I418M	ENST00000383710	6/30	237	194	43	257	257	0	strelka-varscan-mutect	CADPS,missense_variant,p.Ile418Met,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Ile418Met,ENST00000612439,;CADPS,missense_variant,p.Ile418Met,ENST00000357948,NM_183393.2;CADPS,missense_variant,p.Ile418Met,ENST00000283269,NM_183394.2;CADPS,missense_variant,p.Ile418Met,ENST00000490353,;	C	ENST00000383710	Transcript	missense_variant	1604/5471	1254/4062	418/1353	I/M	atC/atG	COSM1047970,COSM1047971	1		-1	CADPS	HGNC	HGNC:1426	protein_coding	YES	CCDS46858.1	ENSP00000373215	Q9ULU8		UPI00001C036A	NM_003716.3	tolerated(0.07)		6/30		hmmpanther:PTHR12166:SF6,hmmpanther:PTHR12166											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1434547440	.												C	3	2	70	62645793	62645793	G	C	1	0	0	0	0	1	0	0	0	2260	1048	37	4		4	CADPS	3	62645793	Missense_Mutation	SNP	G	C3N-01030_TP	15232884	62645793	135649766	167	22344											
SNTN	0	.	GRCh38	chr3	63675606	63675606	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctggaagagtctaccctTagtagacactggatctgaag	13	9	11	8	0	2	3	0	1	2	2	2	5	2	5	1	2	2	2	1	2	6	3	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.330T>C	p.=	p.L110L	ENST00000496807	4/4	199	161	38	253	253	0	strelka-varscan-mutect	SNTN,synonymous_variant,p.=,ENST00000496807,;	C	ENST00000496807	Transcript	synonymous_variant	332/3746	330/348	110/115	L	ctT/ctC		1		1	SNTN	HGNC	HGNC:33706	protein_coding			ENSP00000419971		C9JXY5	UPI00004A25CC				4/4																			LOW	1	SNV	4			1										PASS		.	.												C	2	2	70	63675606	63675606	T	C	1	0	0	0	0	0	0	0	1	15196	1741	61	5		5	SNTN	3	63675606	Silent	SNP	T	C3N-01030_TP	1029813	63675606	134619953	168	22345											
GABRR3	0	.	GRCh38	chr3	98012567	98012567	+	Missense_Mutation	SNP	C	C	A																															ataaaaagtcattgtaaagtCctagacagagagaaaaagag																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.307G>T	p.Asp103Tyr	p.D103Y	ENST00000621172	5/10	107	75	32	111	111	0	strelka-varscan-mutect	GABRR3,missense_variant,p.Asp103Tyr,ENST00000621172,NM_001105580.2;GABRR3,missense_variant,p.Asp103Tyr,ENST00000472788,;GABRR3,intron_variant,,ENST00000470589,;	A	ENST00000621172	Transcript	missense_variant,splice_region_variant	424/1521	307/1404	103/467	D/Y	Gac/Tac		1		-1	GABRR3	HGNC	HGNC:17969	protein_coding	YES	CCDS54617.1	ENSP00000481321	A8MPY1		UPI000003F558	NM_001105580.2	deleterious(0)		5/10		hmmpanther:PTHR18945:SF196,hmmpanther:PTHR18945,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	98012567	98012567	C	A	1	0	0	0	0	1	0	0	0	6049	869	30	2		2	GABRR3	3	98012567	Missense_Mutation	SNP	C	C3N-01030_TP	34336961	98012567	100282992	169	22346	471	2									
GABRR3	0	.	GRCh38	chr3	98012568	98012568	+	Splice_Site	SNP	C	C	T																															taaaaagtcattgtaaagtcCtagacagagagaaaaagaga																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.307-1G>A		p.X103_splice	ENST00000621172		104	74	30	111	111	0	strelka-varscan-mutect	GABRR3,splice_acceptor_variant,,ENST00000621172,NM_001105580.2;GABRR3,splice_acceptor_variant,,ENST00000472788,;GABRR3,intron_variant,,ENST00000470589,;	T	ENST00000621172	Transcript	splice_acceptor_variant	-/1521	307/1404	103/467				1		-1	GABRR3	HGNC	HGNC:17969	protein_coding	YES	CCDS54617.1	ENSP00000481321	A8MPY1		UPI000003F558	NM_001105580.2				4/9																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	70	98012568	98012568	C	T	1	0	0	0	0	0	0	1	0	6049	695	24	3		3	GABRR3	3	98012568	Splice_Site	SNP	C	C3N-01030_TP	1	98012568	100282991	170	22347	471	2									
OR5H2	0	.	GRCh38	chr3	98283137	98283137	+	Frame_Shift_Del	DEL	C	C	-																															ggatatcttccacagtaactCccaaaatgttggttaatttc																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.252delC	p.Met86CysfsTer11	p.M86Cfs*11	ENST00000355273	1/1	214	161	53	273	273	0	sindel-varindel-pindel	OR5H2,frameshift_variant,p.Met86CysfsTer11,ENST00000355273,NM_001005482.1;RP11-325B23.2,intron_variant,,ENST00000508616,;	-	ENST00000355273	Transcript	frameshift_variant	250/945	250/945	84/314	P/X	Ccc/cc		1		1	OR5H2	HGNC	HGNC:14752	protein_coding	YES	CCDS33801.1	ENSP00000347418	Q8NGV7		UPI0000041B67	NM_001005482.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF231,Superfamily_domains:SSF81321																	HIGH		deletion		2		1										PASS		.	.												-	7	5	70	98283137	98283137	C	-	1	0	1	0	1	0	0	0	0	11232	855	30	0		0	OR5H2	3	98283137	Frame_Shift_Del	DEL	C	C3N-01030_TP	270569	98283137	100012422	171	22348											
NFKBIZ	0	.	GRCh38	chr3	101852164	101852164	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaactcagtgaaggaactCctgttgcacatccgaagtca	14	8	9	10	1	2	2	2	1	0	1	4	4	4	3	2	1	3	2	2	1	5	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.369C>A	p.=	p.L123L	ENST00000326172	2/12	212	172	40	203	203	0	strelka-varscan-mutect	NFKBIZ,synonymous_variant,p.=,ENST00000326172,NM_031419.3;NFKBIZ,synonymous_variant,p.=,ENST00000394054,NM_001005474.2;NFKBIZ,synonymous_variant,p.=,ENST00000326151,;NFKBIZ,synonymous_variant,p.=,ENST00000483180,;NFKBIZ,synonymous_variant,p.=,ENST00000491281,;NFKBIZ,downstream_gene_variant,,ENST00000461724,;NFKBIZ,upstream_gene_variant,,ENST00000477601,;NFKBIZ,non_coding_transcript_exon_variant,,ENST00000486444,;NFKBIZ,upstream_gene_variant,,ENST00000495089,;NFKBIZ,upstream_gene_variant,,ENST00000465476,;	A	ENST00000326172	Transcript	synonymous_variant	484/3923	369/2157	123/718	L	ctC/ctA		1		1	NFKBIZ	HGNC	HGNC:29805	protein_coding	YES	CCDS2946.1	ENSP00000325663	Q9BYH8		UPI000006FBB1	NM_031419.3			2/12		hmmpanther:PTHR24124,hmmpanther:PTHR24124:SF5																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	101852164	101852164	C	A	1	0	0	0	0	0	0	0	1	10419	842	30	2		2	NFKBIZ	3	101852164	Silent	SNP	C	C3N-01030_TP	3569027	101852164	96443395	172	22349											
NFKBIZ	0	.	GRCh38	chr3	101853477	101853481	+	Frame_Shift_Del	DEL	CCAGT	CCAGT	-																															agtccttttcccatacctccCcagtcccccgcttatgaacc																								novel		C3N-01030_TP	C3N-01030_NB	CCAGT	CCAGT																c.953_957delAGTCC	p.Gln318ProfsTer4	p.Q318Pfs*4	ENST00000326172	5/12	189	137	52	180	179	1	sindel-varindel-pindel	NFKBIZ,frameshift_variant,p.Gln318ProfsTer4,ENST00000326172,NM_031419.3;NFKBIZ,frameshift_variant,p.Gln218ProfsTer4,ENST00000394054,NM_001005474.2;NFKBIZ,frameshift_variant,p.Gln218ProfsTer4,ENST00000483180,;NFKBIZ,intron_variant,,ENST00000326151,;NFKBIZ,downstream_gene_variant,,ENST00000461724,;NFKBIZ,downstream_gene_variant,,ENST00000491281,;NFKBIZ,upstream_gene_variant,,ENST00000477601,;NFKBIZ,upstream_gene_variant,,ENST00000495089,;NFKBIZ,upstream_gene_variant,,ENST00000465476,;NFKBIZ,downstream_gene_variant,,ENST00000486444,;NFKBIZ,upstream_gene_variant,,ENST00000495719,;	-	ENST00000326172	Transcript	frameshift_variant	1066-1070/3923	951-955/2157	317-319/718	PQS/PX	ccCCAGTcc/cccc		1		1	NFKBIZ	HGNC	HGNC:29805	protein_coding	YES	CCDS2946.1	ENSP00000325663	Q9BYH8		UPI000006FBB1	NM_031419.3			5/12		hmmpanther:PTHR24124,hmmpanther:PTHR24124:SF5																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	70	101853477	101853477	CCAGT	-	1	0	1	0	1	0	0	0	0	10419	610	22	0		0	NFKBIZ	3	101853477	Frame_Shift_Del	DEL	CCAGT	C3N-01030_TP	1313	101853477	96442082	173	22350											
POLQ	0	.	GRCh38	chr3	121489234	121489234	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttcacaattgatagtaaCatttgagtctctatttatgt	11	18	5	7	0	2	2	1	2	1	0	3	2	2	2	1	0	1	1	1	0	5	8	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.3697G>T	p.Val1233Phe	p.V1233F	ENST00000264233	16/30	88	67	21	151	151	0	strelka-varscan-mutect	POLQ,missense_variant,p.Val1368Phe,ENST00000621776,;POLQ,missense_variant,p.Val1233Phe,ENST00000264233,NM_199420.3;RPL7AP11,upstream_gene_variant,,ENST00000486538,;	A	ENST00000264233	Transcript	missense_variant	3826/8775	3697/7773	1233/2590	V/F	Gtt/Ttt		1		-1	POLQ	HGNC	HGNC:9186	protein_coding	YES	CCDS33833.1	ENSP00000264233	O75417		UPI0000D61B5F	NM_199420.3	deleterious_low_confidence(0.04)		16/30																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	121489234	121489234	C	A	1	0	0	0	0	1	0	0	0	12318	478	17	2		2	POLQ	3	121489234	Missense_Mutation	SNP	C	C3N-01030_TP	19635757	121489234	76806325	174	22351											
ADCY5	0	.	GRCh38	chr3	123296194	123296194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcgtcaccaccttcaatgCcaccttggttgcatgctcag	7	10	10	14	1	3	0	3	0	0	0	3	0	3	0	4	2	3	3	4	2	1	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2953G>A	p.Ala985Thr	p.A985T	ENST00000462833	17/21	124	95	29	105	105	0	strelka-varscan	ADCY5,missense_variant,p.Ala985Thr,ENST00000462833,NM_183357.2;ADCY5,missense_variant,p.Ala643Thr,ENST00000491190,;ADCY5,missense_variant,p.Ala635Thr,ENST00000309879,NM_001199642.1;ADCY5,downstream_gene_variant,,ENST00000466617,;ADCY5,downstream_gene_variant,,ENST00000468683,;ADCY5,downstream_gene_variant,,ENST00000474577,;	T	ENST00000462833	Transcript	missense_variant	4166/7311	2953/3786	985/1261	A/T	Gca/Aca		1		-1	ADCY5	HGNC	HGNC:236	protein_coding	YES	CCDS3022.1	ENSP00000419361	O95622		UPI000015E262	NM_183357.2	tolerated(0.17)		17/21		PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF332,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	123296194	123296194	C	T	1	0	0	0	0	1	0	0	0	341	739	26	3		3	ADCY5	3	123296194	Missense_Mutation	SNP	C	C3N-01030_TP	1806960	123296194	74999365	175	22352											
KALRN	0	.	GRCh38	chr3	124264644	124264644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattaaacccgacaacttctGgcagaaacagaagaccaact	17	6	6	12	1	1	3	0	0	1	3	1	4	1	3	2	1	4	1	2	1	6	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.404G>T	p.Trp135Leu	p.W135L	ENST00000240874	4/34	157	131	26	144	144	0	strelka-varscan	KALRN,missense_variant,p.Trp135Leu,ENST00000360013,NM_001024660.3;KALRN,missense_variant,p.Trp113Leu,ENST00000354186,;KALRN,missense_variant,p.Trp135Leu,ENST00000240874,NM_003947.4;KALRN,missense_variant,p.Trp135Leu,ENST00000460856,NM_001322989.1;KALRN,missense_variant,p.Trp163Leu,ENST00000448253,;KALRN,upstream_gene_variant,,ENST00000498499,;	T	ENST00000240874	Transcript	missense_variant	561/6537	404/4992	135/1663	W/L	tGg/tTg		1		1	KALRN	HGNC	HGNC:4814	protein_coding	YES	CCDS3027.1	ENSP00000240874	O60229		UPI000012C095	NM_003947.4	deleterious(0)		4/34		Gene3D:3.40.525.10,Pfam_domain:PF00650,PROSITE_profiles:PS50191,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,SMART_domains:SM00516,Superfamily_domains:SSF52087																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	124264644	124264644	G	T	1	0	0	0	0	1	0	0	0	7884	1357	47	2		2	KALRN	3	124264644	Missense_Mutation	SNP	G	C3N-01030_TP	968450	124264644	74030915	176	22353											
UMPS	0	.	GRCh38	chr3	124731509	124731509	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttatttattttttagatgGgatctctcttacgtcaccca	9	19	5	8	1	3	1	1	0	2	1	4	2	3	2	1	1	1	0	1	1	4	8	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.160G>T	p.Gly54Ter	p.G54*	ENST00000628619	2/2	74	55	19	50	50	0	strelka-varscan	UMPS,stop_gained,p.Gly54Ter,ENST00000628619,;UMPS,intron_variant,,ENST00000232607,NM_000373.3;MIR544B,upstream_gene_variant,,ENST00000582372,;UMPS,stop_gained,p.Gly54Ter,ENST00000467167,;UMPS,stop_gained,p.Gly54Ter,ENST00000460034,;UMPS,intron_variant,,ENST00000479719,;UMPS,intron_variant,,ENST00000462091,;UMPS,intron_variant,,ENST00000474588,;UMPS,intron_variant,,ENST00000497791,;RP11-71H17.1,downstream_gene_variant,,ENST00000475510,;	T	ENST00000628619	Transcript	stop_gained	187/228	160/201	54/66	G/*	Gga/Tga		1		1	UMPS	HGNC	HGNC:12563	protein_coding			ENSP00000486143		F2Z303	UPI0000412984				2/2		Gene3D:3.40.50.2020,hmmpanther:PTHR19278,hmmpanther:PTHR19278:SF9,Superfamily_domains:SSF53271																	HIGH		SNV	5			1										PASS		.	.												T	4	4	70	124731509	124731509	G	T	1	0	0	0	0	0	1	0	0	17505	1246	43	2		2	UMPS	3	124731509	Nonsense_Mutation	SNP	G	C3N-01030_TP	466865	124731509	73564050	177	22354											
CFAP100	0	.	GRCh38	chr3	126419706	126419706	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttcctatacaagctgtcGcccaaggagtggcttgaaga	11	10	11	9	1	0	2	0	1	0	1	2	4	1	3	2	2	2	2	2	2	5	4	rs757315451		C3N-01030_TP	C3N-01030_NB	G	G																c.801G>A	p.=	p.S267S	ENST00000352312	9/17	211	169	42	190	190	0	strelka-varscan	CFAP100,synonymous_variant,p.=,ENST00000352312,NM_182628.2;CFAP100,synonymous_variant,p.=,ENST00000505024,;CFAP100,upstream_gene_variant,,ENST00000507830,;CFAP100,downstream_gene_variant,,ENST00000533201,;CFAP100,downstream_gene_variant,,ENST00000503905,;	A	ENST00000352312	Transcript	synonymous_variant	900/2086	801/1836	267/611	S	tcG/tcA	rs757315451,COSM1037730	1		1	CFAP100	HGNC	HGNC:26842	protein_coding	YES	CCDS3037.1	ENSP00000344749	Q494V2		UPI000013E315	NM_182628.2			9/17		hmmpanther:PTHR21683:SF5,hmmpanther:PTHR21683,Pfam_domain:PF13863											0,1						LOW	1	SNV	2		0,1	1										PASS		.	.												A	2	1	70	126419706	126419706	G	A	1	0	0	0	0	0	0	0	1	3010	1074	38	1		1	CFAP100	3	126419706	Silent	SNP	G	C3N-01030_TP	1688197	126419706	71875853	178	22355											
ZIC1	0	.	GRCh38	chr3	147411004	147411004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accacatccgcgtgcacacgGgcgagaagccctttccctgc	8	6	10	17	4	0	1	0	0	0	1	2	2	2	1	4	1	3	1	4	1	1	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.892G>T	p.Gly298Cys	p.G298C	ENST00000282928	1/3	235	189	46	211	211	0	strelka-varscan	ZIC1,missense_variant,p.Gly298Cys,ENST00000282928,NM_003412.3;ZIC1,intron_variant,,ENST00000488404,;ZIC4,upstream_gene_variant,,ENST00000383075,NM_032153.5;ZIC4,upstream_gene_variant,,ENST00000462748,;ZIC4,upstream_gene_variant,,ENST00000491672,NM_001243256.1;ZIC4,upstream_gene_variant,,ENST00000463250,;ZIC1,intron_variant,,ENST00000472523,;ZIC4,upstream_gene_variant,,ENST00000464144,;	T	ENST00000282928	Transcript	missense_variant	1621/5241	892/1344	298/447	G/C	Ggc/Tgc		1		1	ZIC1	HGNC	HGNC:12872	protein_coding	YES	CCDS3136.1	ENSP00000282928	Q15915		UPI000013DD09	NM_003412.3	deleterious(0)		1/3		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	147411004	147411004	G	T	1	0	0	0	0	1	0	0	0	18257	1232	43	2		2	ZIC1	3	147411004	Missense_Mutation	SNP	G	C3N-01030_TP	20991298	147411004	50884555	179	22356											
CPA3	0	.	GRCh38	chr3	148883758	148883758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttccattcctactcccaGatgctattgtttccctatgg	7	15	5	14	0	0	1	0	0	0	1	4	1	4	1	5	1	2	2	5	1	3	7	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.924G>T	p.Gln308His	p.Q308H	ENST00000296046	9/11	243	190	53	299	298	1	strelka-varscan	CPA3,missense_variant,p.Gln308His,ENST00000296046,NM_001870.2;RP11-680B3.2,intron_variant,,ENST00000488190,;CPA3,non_coding_transcript_exon_variant,,ENST00000477926,;	T	ENST00000296046	Transcript	missense_variant	976/1795	924/1254	308/417	Q/H	caG/caT		1		1	CPA3	HGNC	HGNC:2298	protein_coding	YES	CCDS3138.1	ENSP00000296046	P15088		UPI000013E2F4	NM_001870.2	deleterious(0)		9/11		Gene3D:3.40.630.10,Pfam_domain:PF00246,Prints_domain:PR00765,PROSITE_patterns:PS00133,hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF65,SMART_domains:SM00631,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	148883758	148883758	G	T	1	0	0	0	0	1	0	0	0	3585	933	33	2		2	CPA3	3	148883758	Missense_Mutation	SNP	G	C3N-01030_TP	1472754	148883758	49411801	180	22357											
ERICH6	0	.	GRCh38	chr3	150682268	150682268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagaaaaaaatgctcttaGatcgctgccacaaaattcac	17	10	5	9	1	2	2	1	0	1	2	3	2	2	2	1	0	2	2	1	0	7	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.832C>A	p.Leu278Ile	p.L278I	ENST00000295910	7/14	176	142	34	200	198	2	strelka-varscan	ERICH6,missense_variant,p.Leu278Ile,ENST00000295910,NM_152394.4;ERICH6,missense_variant,p.Leu132Ile,ENST00000491361,NM_001308234.1;ERICH6,downstream_gene_variant,,ENST00000474463,;ERICH6,non_coding_transcript_exon_variant,,ENST00000491716,;	T	ENST00000295910	Transcript	missense_variant	885/2052	832/1992	278/663	L/I	Cta/Ata		1		-1	ERICH6	HGNC	HGNC:28602	protein_coding	YES	CCDS3151.2	ENSP00000295910	Q7L0X2		UPI000023281A	NM_152394.4	deleterious(0.04)		7/14		hmmpanther:PTHR23093																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	150682268	150682268	G	T	1	0	0	0	0	1	0	0	0	5086	933	33	2		2	ERICH6	3	150682268	Missense_Mutation	SNP	G	C3N-01030_TP	1798510	150682268	47613291	181	22358											
MLF1	0	.	GRCh38	chr3	158598207	158598207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aactcgtcgagctccaggagGagtaagttttctataagcat	12	11	10	8	2	1	0	0	0	1	0	4	3	2	2	1	2	3	4	1	2	4	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.500G>A	p.Gly167Glu	p.G167E	ENST00000392822	5/8	106	82	24	136	136	0	strelka-varscan	MLF1,missense_variant,p.Gly126Glu,ENST00000619577,;MLF1,missense_variant,p.Gly111Glu,ENST00000359117,NM_001130156.2;MLF1,missense_variant,p.Gly136Glu,ENST00000355893,NM_022443.4;MLF1,missense_variant,p.Gly167Glu,ENST00000392822,NM_001195432.1;MLF1,missense_variant,p.Gly126Glu,ENST00000478894,;MLF1,missense_variant,p.Gly126Glu,ENST00000471745,NM_001195434.1;MLF1,missense_variant,p.Gly111Glu,ENST00000484955,NM_001130157.2;MLF1,missense_variant,p.Gly111Glu,ENST00000482628,;MLF1,missense_variant,p.Gly62Glu,ENST00000491767,;MLF1,missense_variant,p.Gly126Glu,ENST00000477042,;MLF1,missense_variant,p.Gly91Glu,ENST00000498592,;MLF1,missense_variant,p.Gly151Glu,ENST00000466246,;MLF1,intron_variant,,ENST00000618075,;MLF1,intron_variant,,ENST00000469452,NM_001195433.1;MLF1,splice_region_variant,,ENST00000497004,;MLF1,splice_region_variant,,ENST00000495452,;MLF1,downstream_gene_variant,,ENST00000487838,;	A	ENST00000392822	Transcript	missense_variant,splice_region_variant	500/2157	500/900	167/299	G/E	gGa/gAa		1		1	MLF1	HGNC	HGNC:7125	protein_coding	YES	CCDS56286.1	ENSP00000376568	P58340		UPI000007134A	NM_001195432.1	deleterious(0)		5/8		hmmpanther:PTHR13105,hmmpanther:PTHR13105:SF3,Pfam_domain:PF10248																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	158598207	158598207	G	A	1	0	0	0	0	1	0	0	0	9582	1188	41	3		3	MLF1	3	158598207	Missense_Mutation	SNP	G	C3N-01030_TP	7915939	158598207	39697352	182	22359											
SLITRK3	0	.	GRCh38	chr3	165188974	165188974	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctggggattctccagcTggtgcaacgtgcagcatctc	6	10	14	11	1	2	0	0	0	2	0	4	1	2	1	1	4	5	5	1	4	1	1	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.1857A>C	p.=	p.P619P	ENST00000475390	2/2	183	131	52	182	182	0	strelka-varscan	SLITRK3,synonymous_variant,p.=,ENST00000475390,NM_001318811.1,NM_001318810.1;SLITRK3,synonymous_variant,p.=,ENST00000241274,NM_014926.2;SLITRK3,downstream_gene_variant,,ENST00000497724,;	G	ENST00000475390	Transcript	synonymous_variant	2301/4555	1857/2934	619/977	P	ccA/ccC		1		-1	SLITRK3	HGNC	HGNC:23501	protein_coding	YES	CCDS3197.1	ENSP00000420091	O94933		UPI000004F259	NM_001318811.1,NM_001318810.1			2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF14																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	70	165188974	165188974	T	G	1	0	0	0	0	0	0	0	1	15035	1567	55	5		5	SLITRK3	3	165188974	Silent	SNP	T	C3N-01030_TP	6590767	165188974	33106585	183	22360											
ATP11B	0	.	GRCh38	chr3	182897352	182897352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaccatctcgttacctGgggatctattatattttatt	10	17	6	8	1	3	0	1	0	2	0	4	2	3	1	2	2	2	1	2	2	6	7	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.3098G>T	p.Trp1033Leu	p.W1033L	ENST00000323116	27/30	114	95	19	187	187	0	strelka-varscan	ATP11B,missense_variant,p.Trp1033Leu,ENST00000323116,NM_014616.2;ATP11B,missense_variant,p.Trp834Leu,ENST00000498086,;ATP11B,missense_variant,p.Trp18Leu,ENST00000491699,;ATP11B,downstream_gene_variant,,ENST00000482070,;ATP11B,upstream_gene_variant,,ENST00000484691,;ATP11B,upstream_gene_variant,,ENST00000475636,;ATP11B,3_prime_UTR_variant,,ENST00000466758,;ATP11B,non_coding_transcript_exon_variant,,ENST00000490303,;	T	ENST00000323116	Transcript	missense_variant	3358/7325	3098/3534	1033/1177	W/L	tGg/tTg		1		1	ATP11B	HGNC	HGNC:13553	protein_coding	YES	CCDS33896.1	ENSP00000321195	Q9Y2G3		UPI000004124E	NM_014616.2	tolerated(0.12)		27/30		Superfamily_domains:0049473,Pfam_domain:PF16212,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF57,TIGRFAM_domain:TIGR01652,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	70	182897352	182897352	G	T	1	0	0	0	0	1	0	0	0	1272	1357	47	2		2	ATP11B	3	182897352	Missense_Mutation	SNP	G	C3N-01030_TP	17708378	182897352	15398207	184	22361											
ABCC5	0	.	GRCh38	chr3	183953249	183953249	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgaaccctgccctttcTcttccagctgcacaagctgc	7	10	7	17	0	1	1	0	1	1	0	3	1	2	1	3	0	6	4	3	0	2	2	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.2504A>T	p.Glu835Val	p.E835V	ENST00000334444	18/30	94	69	25	92	92	0	strelka-varscan	ABCC5,missense_variant,p.Glu835Val,ENST00000334444,NM_005688.2;ABCC5,missense_variant,p.Glu835Val,ENST00000265586,;ABCC5,3_prime_UTR_variant,,ENST00000437205,NM_001320032.1;	A	ENST00000334444	Transcript	missense_variant	2745/5921	2504/4314	835/1437	E/V	gAg/gTg		1		-1	ABCC5	HGNC	HGNC:56	protein_coding	YES	CCDS43176.1	ENSP00000333926	O15440		UPI000004A33C	NM_005688.2	tolerated(0.11)		18/30		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	183953249	183953249	T	A	1	0	0	0	0	1	0	0	0	60	1551	54	4		4	ABCC5	3	183953249	Missense_Mutation	SNP	T	C3N-01030_TP	1055897	183953249	14342310	185	22362											
POLR2H	0	.	GRCh38	chr3	184368273	184368273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactccagagtttatctcctGatgaagaagctagccttctg	10	12	9	10	0	2	4	0	2	2	2	4	5	3	4	3	0	2	2	3	0	4	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.496G>A	p.Asp166Asn	p.D166N	ENST00000429568	5/5	63	53	10	73	73	0	strelka-varscan	POLR2H,missense_variant,p.Asp166Asn,ENST00000429568,NM_001278698.1;POLR2H,synonymous_variant,p.=,ENST00000456318,NM_006232.3;POLR2H,synonymous_variant,p.=,ENST00000430783,NM_001278714.1;POLR2H,synonymous_variant,p.=,ENST00000438240,NM_001278700.1;POLR2H,synonymous_variant,p.=,ENST00000455712,;POLR2H,synonymous_variant,p.=,ENST00000443489,NM_001278715.1;POLR2H,synonymous_variant,p.=,ENST00000452961,NM_001278699.1;THPO,downstream_gene_variant,,ENST00000204615,NM_000460.3,NM_001289998.1,NM_001290028.1;THPO,downstream_gene_variant,,ENST00000445696,NM_001177598.2,NM_001290022.1,NM_001177597.2,NM_001290026.1;THPO,downstream_gene_variant,,ENST00000421442,NM_001289997.1,NM_001290027.1;POLR2H,downstream_gene_variant,,ENST00000412877,;THPO,downstream_gene_variant,,ENST00000477594,;POLR2H,non_coding_transcript_exon_variant,,ENST00000488213,;POLR2H,non_coding_transcript_exon_variant,,ENST00000476003,;POLR2H,downstream_gene_variant,,ENST00000490958,;POLR2H,downstream_gene_variant,,ENST00000489043,;	A	ENST00000429568	Transcript	missense_variant	555/878	496/528	166/175	D/N	Gat/Aat		1		1	POLR2H	HGNC	HGNC:9195	protein_coding	YES	CCDS63859.1	ENSP00000415536	P52434		UPI000198CBDF	NM_001278698.1	deleterious_low_confidence(0)		5/5																			MODERATE		SNV	2			1										PASS		.	.												A	3	1	70	184368273	184368273	G	A	1	0	0	0	0	1	0	0	0	12331	1290	45	3		3	POLR2H	3	184368273	Missense_Mutation	SNP	G	C3N-01030_TP	415024	184368273	13927286	186	22363											
VPS8	0	.	GRCh38	chr3	184849999	184849999	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacagatgctcatcctccaGgaacagcaatattgcatatc	14	10	6	11	0	1	1	1	0	0	1	4	2	3	2	2	1	5	3	2	1	5	4	rs748940907		C3N-01030_TP	C3N-01030_NB	G	G																c.730G>T	p.Gly244Ter	p.G244*	ENST00000625842	10/48	128	85	43	170	170	0	strelka-varscan	VPS8,stop_gained,p.Gly244Ter,ENST00000287546,;VPS8,stop_gained,p.Gly242Ter,ENST00000436792,NM_015303.3;VPS8,stop_gained,p.Gly244Ter,ENST00000625842,NM_001009921.2;VPS8,stop_gained,p.Gly242Ter,ENST00000446204,;VPS8,downstream_gene_variant,,ENST00000422105,;VPS8,non_coding_transcript_exon_variant,,ENST00000452666,;VPS8,non_coding_transcript_exon_variant,,ENST00000469713,;VPS8,non_coding_transcript_exon_variant,,ENST00000465818,;VPS8,downstream_gene_variant,,ENST00000469479,;	T	ENST00000625842	Transcript	stop_gained	837/4969	730/4287	244/1428	G/*	Gga/Tga	rs748940907	1		1	VPS8	HGNC	HGNC:29122	protein_coding	YES	CCDS46971.1	ENSP00000487164	Q8N3P4		UPI0000160BDC	NM_001009921.2			10/48		hmmpanther:PTHR22847:SF425,hmmpanther:PTHR22847,Gene3D:2.130.10.10,Superfamily_domains:SSF50978,Superfamily_domains:SSF50969																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	70	184849999	184849999	G	T	1	0	0	0	0	0	1	0	0	17766	1001	35	2		2	VPS8	3	184849999	Nonsense_Mutation	SNP	G	C3N-01030_TP	481726	184849999	13445560	187	22364											
ACAP2	0	.	GRCh38	chr3	195297276	195297276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcattccccaactcacaCataagctgtttggcaaaaaa	16	9	4	12	0	2	0	2	0	0	0	3	0	3	0	2	1	2	3	2	1	5	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1401G>T	p.Met467Ile	p.M467I	ENST00000326793	16/23	79	59	20	138	137	1	strelka-varscan	ACAP2,missense_variant,p.Met467Ile,ENST00000326793,NM_012287.5;ACAP2,missense_variant,p.Met466Ile,ENST00000618471,;ACAP2,missense_variant,p.Met474Ile,ENST00000635383,;ACAP2,missense_variant,p.Met26Ile,ENST00000450200,;ACAP2,downstream_gene_variant,,ENST00000439758,;ACAP2,non_coding_transcript_exon_variant,,ENST00000475905,;ACAP2,non_coding_transcript_exon_variant,,ENST00000484296,;	A	ENST00000326793	Transcript	missense_variant	1632/7160	1401/2337	467/778	M/I	atG/atT		1		-1	ACAP2	HGNC	HGNC:16469	protein_coding	YES	CCDS33924.1	ENSP00000324287	Q15057		UPI0000141A1A	NM_012287.5	deleterious(0)		16/23		PROSITE_profiles:PS50115,hmmpanther:PTHR23180:SF241,hmmpanther:PTHR23180,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863,Prints_domain:PR00405																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	195297276	195297276	C	A	1	0	0	0	0	1	0	0	0	162	492	17	2		2	ACAP2	3	195297276	Missense_Mutation	SNP	C	C3N-01030_TP	10447277	195297276	2998283	188	22365											
MUC4	0	.	GRCh38	chr3	195771666	195771666	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctgataaaatgtggTcccccgaccagtggagaagt	11	8	11	11	1	1	2	1	1	0	1	2	4	2	2	4	2	0	1	4	2	3	1	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.13228A>G	p.Thr4410Ala	p.T4410A	ENST00000463781	5/25	109	80	29	103	103	0	strelka-varscan	MUC4,missense_variant,p.Thr4410Ala,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr4410Ala,ENST00000475231,;MUC4,missense_variant,p.Thr174Ala,ENST00000346145,NM_004532.5;MUC4,missense_variant,p.Thr123Ala,ENST00000349607,NM_138297.4;MUC4,upstream_gene_variant,,ENST00000486425,;MUC4,missense_variant,p.Thr4410Ala,ENST00000478156,;MUC4,missense_variant,p.Thr4410Ala,ENST00000477756,;MUC4,missense_variant,p.Thr4410Ala,ENST00000480843,;MUC4,synonymous_variant,p.=,ENST00000466475,;MUC4,synonymous_variant,p.=,ENST00000477086,;MUC4,synonymous_variant,p.=,ENST00000462323,;MUC4,synonymous_variant,p.=,ENST00000470451,;MUC4,synonymous_variant,p.=,ENST00000479406,;MUC4,synonymous_variant,p.=,ENST00000448861,;MUC4,synonymous_variant,p.=,ENST00000308466,;MUC4,synonymous_variant,p.=,ENST00000339251,;MUC4,synonymous_variant,p.=,ENST00000415455,;MUC4,synonymous_variant,p.=,ENST00000392407,;	C	ENST00000463781	Transcript	missense_variant	13688/17110	13228/16239	4410/5412	T/A	Acc/Gcc		1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	deleterious_low_confidence(0.01)		5/25		PROSITE_profiles:PS51220,hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF42,SMART_domains:SM00539																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	70	195771666	195771666	T	C	1	0	0	0	0	1	0	0	0	9977	1667	58	5		5	MUC4	3	195771666	Missense_Mutation	SNP	T	C3N-01030_TP	474390	195771666	2523893	189	22366											
LRCH3	0	.	GRCh38	chr3	197871348	197871348	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgagtaccggttgaaagtGtctctaccttgtgatctcgg	8	14	11	8	2	2	3	0	3	2	0	4	3	2	3	2	2	2	2	2	2	3	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2016G>A	p.=	p.V672V	ENST00000334859	19/19	118	98	20	108	108	0	strelka-varscan	LRCH3,synonymous_variant,p.=,ENST00000438796,;LRCH3,synonymous_variant,p.=,ENST00000428136,;LRCH3,synonymous_variant,p.=,ENST00000425562,;LRCH3,synonymous_variant,p.=,ENST00000414675,;LRCH3,synonymous_variant,p.=,ENST00000334859,NM_032773.3;LRCH3,synonymous_variant,p.=,ENST00000441090,;LRCH3,synonymous_variant,p.=,ENST00000433298,;LRCH3,synonymous_variant,p.=,ENST00000452660,;LRCH3,non_coding_transcript_exon_variant,,ENST00000471667,;LRCH3,non_coding_transcript_exon_variant,,ENST00000483442,;LRCH3,non_coding_transcript_exon_variant,,ENST00000473177,;LRCH3,upstream_gene_variant,,ENST00000466054,;LRCH3,downstream_gene_variant,,ENST00000461674,;LRCH3,upstream_gene_variant,,ENST00000476664,;	A	ENST00000334859	Transcript	synonymous_variant	2021/2258	2016/2139	672/712	V	gtG/gtA		1		1	LRCH3	HGNC	HGNC:28637	protein_coding	YES	CCDS3330.1	ENSP00000334375	Q96II8		UPI000006E903	NM_032773.3			19/19		Gene3D:1.10.418.10,Superfamily_domains:SSF47576																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	197871348	197871348	G	A	1	0	0	0	0	0	0	0	1	8828	1364	48	3		3	LRCH3	3	197871348	Silent	SNP	G	C3N-01030_TP	2099682	197871348	424211	190	22367											
LMLN	0	.	GRCh38	chr3	197980347	197980347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgccgggtctaccgtgggGgtaagtggcctcatggagca	8	8	16	9	2	2	0	1	0	1	0	2	1	2	1	3	5	3	2	3	5	3	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.571G>T	p.Gly191Cys	p.G191C	ENST00000420910	6/17	112	83	29	90	90	0	strelka-varscan	LMLN,missense_variant,p.Gly191Cys,ENST00000330198,NM_033029.3;LMLN,missense_variant,p.Gly191Cys,ENST00000420910,NM_001136049.2;LMLN,missense_variant,p.Gly139Cys,ENST00000482695,;LMLN,missense_variant,p.Gly139Cys,ENST00000332636,;LMLN,missense_variant,p.Gly119Cys,ENST00000419117,;LMLN,non_coding_transcript_exon_variant,,ENST00000451139,;LMLN,non_coding_transcript_exon_variant,,ENST00000473676,;LMLN,non_coding_transcript_exon_variant,,ENST00000482837,;	T	ENST00000420910	Transcript	missense_variant	571/2423	571/2079	191/692	G/C	Ggt/Tgt		1		1	LMLN	HGNC	HGNC:15991	protein_coding	YES	CCDS46988.1	ENSP00000410926	Q96KR4		UPI000192C367	NM_001136049.2	deleterious(0.03)		6/17		hmmpanther:PTHR10942,hmmpanther:PTHR10942:SF0,Gene3D:1lmlA01,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	197980347	197980347	G	T	1	0	0	0	0	1	0	0	0	8771	1232	43	2		2	LMLN	3	197980347	Missense_Mutation	SNP	G	C3N-01030_TP	108999	197980347	315212	191	22368											
USP17L17	0	.	GRCh38	chr4	9243944	9243944	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttttcaaaactcacatcTtctcggcccgatgcagcttt	9	13	5	14	2	4	0	2	0	2	0	5	1	4	0	1	1	3	2	1	1	2	4	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.66T>C	p.=	p.S22S	ENST00000511568	1/1	201	188	13	158	158	0	varscan-mutect	USP17L17,synonymous_variant,p.=,ENST00000614762,;USP17L17,synonymous_variant,p.=,ENST00000511568,NM_001256857.1;USP17L18,upstream_gene_variant,,ENST00000619296,;USP17L18,upstream_gene_variant,,ENST00000504209,NM_001256859.1;USP17L16P,downstream_gene_variant,,ENST00000507155,;	C	ENST00000511568	Transcript	synonymous_variant	66/1593	66/1593	22/530	S	tcT/tcC		1		1	USP17L17	HGNC	HGNC:44445	protein_coding	YES	CCDS59458.1	ENSP00000422621	D6RBQ6		UPI0000160391	NM_001256857.1			1/1																			LOW	1	SNV				1										PASS		.	.												C	2	2	70	9243944	9243944	T	C	1	0	0	0	0	0	0	0	1	17584	1596	56	5		5	USP17L17	4	9243944	Silent	SNP	T	C3N-01030_TP		9243944	180970611	192	22369											
PROM1	0	.	GRCh38	chr4	16023392	16023392	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagtcggtcaagaattcCgcctcctagcactgaattga	10	11	8	12	2	2	3	2	2	1	1	6	3	4	3	3	1	1	1	3	1	4	3	rs752543587		C3N-01030_TP	C3N-01030_NB	C	C																c.718G>T	p.Gly240Ter	p.G240*	ENST00000510224	8/28	136	105	31	119	119	0	strelka-varscan-mutect	PROM1,stop_gained,p.Gly231Ter,ENST00000505450,NM_001145848.1;PROM1,stop_gained,p.Gly231Ter,ENST00000508167,NM_001145847.1;PROM1,stop_gained,p.Gly240Ter,ENST00000510224,;PROM1,stop_gained,p.Gly240Ter,ENST00000447510,NM_006017.2;PROM1,stop_gained,p.Gly240Ter,ENST00000540805,NM_001145849.1,NM_001145851.1;PROM1,stop_gained,p.Gly240Ter,ENST00000539194,NM_001145850.1,NM_001145852.1;PROM1,non_coding_transcript_exon_variant,,ENST00000502943,;PROM1,3_prime_UTR_variant,,ENST00000511153,;	A	ENST00000510224	Transcript	stop_gained	967/4006	718/2598	240/865	G/*	Gga/Tga	rs752543587	1		-1	PROM1	HGNC	HGNC:9454	protein_coding	YES	CCDS47029.1	ENSP00000426809	O43490		UPI000004ECD6				8/28		hmmpanther:PTHR22730,hmmpanther:PTHR22730:SF3,Pfam_domain:PF05478																	HIGH	1	SNV	5			1										PASS		rs752543587	.												A	4	1	70	16023392	16023392	C	A	1	0	0	0	0	0	1	0	0	12687	661	23	1		1	PROM1	4	16023392	Nonsense_Mutation	SNP	C	C3N-01030_TP	6779448	16023392	174191163	193	22370											
ARAP2	0	.	GRCh38	chr4	36210534	36210534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttaacggataactgtgcCtattaacggagtccaaaatc	14	10	8	9	2	0	0	0	0	0	0	2	2	1	2	2	2	5	1	2	2	6	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1343G>T	p.Arg448Met	p.R448M	ENST00000303965	6/33	196	155	41	214	212	2	strelka-varscan-mutect	ARAP2,missense_variant,p.Arg448Met,ENST00000303965,NM_015230.3;ARAP2,5_prime_UTR_variant,,ENST00000511416,;ARAP2,non_coding_transcript_exon_variant,,ENST00000508066,;	A	ENST00000303965	Transcript	missense_variant	1833/7514	1343/5115	448/1704	R/M	aGg/aTg		1		-1	ARAP2	HGNC	HGNC:16924	protein_coding	YES	CCDS3441.1	ENSP00000302895	Q8WZ64		UPI000013E917	NM_015230.3	tolerated(0.26)		6/33		hmmpanther:PTHR23180:SF263,hmmpanther:PTHR23180																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	36210534	36210534	C	A	1	0	0	0	0	1	0	0	0	961	681	24	2		2	ARAP2	4	36210534	Missense_Mutation	SNP	C	C3N-01030_TP	20187142	36210534	154004021	194	22371											
TLR1	0	.	GRCh38	chr4	38796824	38796824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaggaacaaagtttctctCatgaaggcaaatctgcatac	14	9	8	10	0	3	1	1	1	2	0	4	2	3	2	1	2	3	3	1	2	5	2	rs138709743		C3N-01030_TP	C3N-01030_NB	C	C																c.2008G>A	p.Glu670Lys	p.E670K	ENST00000308979	4/4	231	168	63	255	255	0	strelka-varscan-mutect	TLR1,missense_variant,p.Glu670Lys,ENST00000308979,NM_003263.3;TLR1,missense_variant,p.Glu670Lys,ENST00000502213,;TLR1,downstream_gene_variant,,ENST00000505940,;TLR1,downstream_gene_variant,,ENST00000508364,;TLR1,downstream_gene_variant,,ENST00000515861,;TLR1,downstream_gene_variant,,ENST00000506146,;TLR1,intron_variant,,ENST00000505744,;TLR1,upstream_gene_variant,,ENST00000510552,;TLR1,downstream_gene_variant,,ENST00000509754,;TLR1,downstream_gene_variant,,ENST00000508535,;	T	ENST00000308979	Transcript	missense_variant	2282/2849	2008/2361	670/786	E/K	Gag/Aag	rs138709743,COSM110527	1		-1	TLR1	HGNC	HGNC:11847	protein_coding	YES	CCDS33973.1	ENSP00000354932	Q15399		UPI000013EDFA	NM_003263.3	deleterious(0)		4/4		Gene3D:3.40.50.10140,Pfam_domain:PF01582,PIRSF_domain:PIRSF037595,PROSITE_profiles:PS50104,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF261,SMART_domains:SM00255,Superfamily_domains:SSF52200											1,1						MODERATE	1	SNV	1		0,1	1										PASS		rs138709743	.												T	3	4	70	38796824	38796824	C	T	1	0	0	0	0	1	0	0	0	16395	835	29	3		3	TLR1	4	38796824	Missense_Mutation	SNP	C	C3N-01030_TP	2586290	38796824	151417731	195	22372											
N4BP2	0	.	GRCh38	chr4	40103033	40103033	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatctgtcaactacacAtttccaccctcagttatttc	10	14	5	12	0	3	1	2	0	1	1	5	2	4	1	2	1	2	1	2	1	3	4	rs540805933		C3N-01030_TP	C3N-01030_NB	A	A																c.1188A>T	p.=	p.T396T	ENST00000261435	4/18	270	202	68	277	277	0	strelka-varscan-mutect	N4BP2,synonymous_variant,p.=,ENST00000261435,NM_018177.4;N4BP2,synonymous_variant,p.=,ENST00000513269,;N4BP2,downstream_gene_variant,,ENST00000515550,;N4BP2,3_prime_UTR_variant,,ENST00000511480,NM_001318359.1;	T	ENST00000261435	Transcript	synonymous_variant	1604/9744	1188/5313	396/1770	T	acA/acT	rs540805933	1		1	N4BP2	HGNC	HGNC:29851	protein_coding	YES	CCDS3457.1	ENSP00000261435	Q86UW6		UPI00001A962C	NM_018177.4			4/18		hmmpanther:PTHR13308,hmmpanther:PTHR13308:SF21																	LOW	1	SNV	5			1										PASS		rs540805933	.												T	2	4	70	40103033	40103033	A	T	1	0	0	0	0	0	0	0	1	10114	204	8	4		4	N4BP2	4	40103033	Silent	SNP	A	C3N-01030_TP	1306209	40103033	150111522	196	22373											
GABRA4	0	.	GRCh38	chr4	46977567	46977567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caatctcaaaatttcaatggGgccgtcatattttaatcttt	12	16	5	8	1	4	0	3	0	2	0	5	0	4	0	1	2	0	0	1	2	6	5	rs775500790		C3N-01030_TP	C3N-01030_NB	G	G																c.337C>A	p.Pro113Thr	p.P113T	ENST00000264318	4/9	136	102	34	188	187	1	strelka-varscan-mutect	GABRA4,missense_variant,p.Pro113Thr,ENST00000264318,NM_000809.3,NM_001204266.1;GABRA4,3_prime_UTR_variant,,ENST00000508560,;GABRA4,3_prime_UTR_variant,,ENST00000511523,;GABRA4,3_prime_UTR_variant,,ENST00000502874,;	T	ENST00000264318	Transcript	missense_variant	1320/11973	337/1665	113/554	P/T	Ccc/Acc	rs775500790	1		-1	GABRA4	HGNC	HGNC:4078	protein_coding	YES	CCDS3473.1	ENSP00000264318	P48169	X5D7F5	UPI0000074200	NM_000809.3,NM_001204266.1	tolerated(0.17)		4/9		hmmpanther:PTHR18945:SF393,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR01079																	MODERATE	1	SNV	1			1										PASS		rs775500790	.												T	3	4	70	46977567	46977567	G	T	1	0	0	0	0	1	0	0	0	6034	1232	43	2		2	GABRA4	4	46977567	Missense_Mutation	SNP	G	C3N-01030_TP	6874534	46977567	143236988	197	22374											
CORIN	0	.	GRCh38	chr4	47623666	47623666	+	Frame_Shift_Del	DEL	C	C	-																															tcactctgcagagaacactgCcatggccaccttccagggcg																								rs762631726		C3N-01030_TP	C3N-01030_NB	C	C																c.2445delG	p.Trp815CysfsTer25	p.W815Cfs*25	ENST00000273857	19/22	206	169	37	209	209	0	sindel-varindel-pindel	CORIN,frameshift_variant,p.Trp815CysfsTer25,ENST00000273857,NM_006587.3;CORIN,frameshift_variant,p.Trp711CysfsTer25,ENST00000610355,NM_001278585.1;CORIN,frameshift_variant,p.Trp676CysfsTer25,ENST00000508498,;CORIN,frameshift_variant,p.Trp748CysfsTer25,ENST00000502252,;CORIN,frameshift_variant,p.Trp778CysfsTer25,ENST00000505909,;CORIN,non_coding_transcript_exon_variant,,ENST00000515827,;	-	ENST00000273857	Transcript	frameshift_variant	2445/4852	2445/3129	815/1042	W/X	tgG/tg	rs762631726,COSM1429878	1		-1	CORIN	HGNC	HGNC:19012	protein_coding	YES	CCDS3477.1	ENSP00000273857	Q9Y5Q5		UPI0000168657	NM_006587.3			19/22		Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF036376,PROSITE_profiles:PS50240,hmmpanther:PTHR24270,SMART_domains:SM00020,Superfamily_domains:SSF50494											0,1						HIGH	1	deletion	1		0,1	1										PASS		.	.												-	7	5	70	47623666	47623666	C	-	1	0	1	0	1	0	0	0	0	3546	740	26	0		0	CORIN	4	47623666	Frame_Shift_Del	DEL	C	C3N-01030_TP	646099	47623666	142590889	198	22375											
KIAA1211	0	.	GRCh38	chr4	56315487	56315487	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagtctcccagcagcgCgtccgcactcgcagaatggg	8	5	13	15	4	1	1	0	0	1	1	4	2	2	2	3	2	2	3	3	2	1	0			C3N-01030_TP	C3N-01030_NB	C	C																c.1985C>G	p.Ala662Gly	p.A662G	ENST00000504228	6/9	234	165	69	196	196	0	strelka-varscan-mutect	KIAA1211,missense_variant,p.Ala662Gly,ENST00000504228,;KIAA1211,missense_variant,p.Ala655Gly,ENST00000541073,;KIAA1211,missense_variant,p.Ala662Gly,ENST00000264229,NM_020722.1;KIAA1211,downstream_gene_variant,,ENST00000636006,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;	G	ENST00000504228	Transcript	missense_variant	2090/4628	1985/3702	662/1233	A/G	gCg/gGg	COSM325616,COSM4993811	1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309		tolerated(0.42)		6/9													1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												G	3	3	70	56315487	56315487	C	G	1	0	0	0	0	1	0	0	0	8107	768	27	4		4	KIAA1211	4	56315487	Missense_Mutation	SNP	C	C3N-01030_TP	8691821	56315487	133899068	199	22376											
KIAA1211	0	.	GRCh38	chr4	56316277	56316277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactccgctgaaccttccagCagccgctctgttcctgtggc	5	10	10	16	2	1	1	0	1	1	0	4	2	4	1	5	1	3	4	5	1	1	2	rs776614182		C3N-01030_TP	C3N-01030_NB	C	C																c.2775C>T	p.=	p.S925S	ENST00000504228	6/9	145	107	38	114	114	0	strelka-varscan-mutect	KIAA1211,synonymous_variant,p.=,ENST00000504228,;KIAA1211,synonymous_variant,p.=,ENST00000541073,;KIAA1211,synonymous_variant,p.=,ENST00000264229,NM_020722.1;KIAA1211,downstream_gene_variant,,ENST00000636006,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;MRPL22P1,downstream_gene_variant,,ENST00000505398,;	T	ENST00000504228	Transcript	synonymous_variant	2880/4628	2775/3702	925/1233	S	agC/agT	rs776614182	1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309				6/9																			LOW	1	SNV	5			1										PASS		rs776614182	.												T	2	4	70	56316277	56316277	C	T	1	0	0	0	0	0	0	0	1	8107	709	25	3		3	KIAA1211	4	56316277	Silent	SNP	C	C3N-01030_TP	790	56316277	133898278	200	22377											
KIAA1211	0	.	GRCh38	chr4	56316295	56316295	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagccgctctgttcctgtGgcccaccctgggcctccacc	4	8	10	19	1	1	0	0	0	1	0	3	0	3	0	7	2	2	3	7	2	0	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2793G>T	p.=	p.V931V	ENST00000504228	6/9	144	111	33	108	107	1	strelka-varscan-mutect	KIAA1211,synonymous_variant,p.=,ENST00000504228,;KIAA1211,synonymous_variant,p.=,ENST00000541073,;KIAA1211,synonymous_variant,p.=,ENST00000264229,NM_020722.1;KIAA1211,downstream_gene_variant,,ENST00000636006,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;MRPL22P1,downstream_gene_variant,,ENST00000505398,;	T	ENST00000504228	Transcript	synonymous_variant	2898/4628	2793/3702	931/1233	V	gtG/gtT		1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309				6/9																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	70	56316295	56316295	G	T	1	0	0	0	0	0	0	0	1	8107	1335	47	2		2	KIAA1211	4	56316295	Silent	SNP	G	C3N-01030_TP	18	56316295	133898260	201	22378											
ADGRL3	0	.	GRCh38	chr4	61813809	61813809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatttgttttgggtccacagGgcaggcacatcatggacaag	11	10	12	8	0	1	0	1	0	0	0	2	1	2	1	1	4	0	3	1	4	2	3			C3N-01030_TP	C3N-01030_NB	G	G																c.1196G>T	p.Gly399Val	p.G399V	ENST00000514591	8/25	176	132	44	257	257	0	strelka-varscan-mutect	ADGRL3,missense_variant,p.Gly399Val,ENST00000512091,NM_001322246.1;ADGRL3,missense_variant,p.Gly399Val,ENST00000514591,NM_015236.4;ADGRL3,missense_variant,p.Gly467Val,ENST00000509896,;ADGRL3,missense_variant,p.Gly467Val,ENST00000511324,;ADGRL3,missense_variant,p.Gly467Val,ENST00000508693,;ADGRL3,missense_variant,p.Gly467Val,ENST00000507164,;ADGRL3,missense_variant,p.Gly467Val,ENST00000506720,;ADGRL3,missense_variant,p.Gly467Val,ENST00000506746,;ADGRL3,missense_variant,p.Gly467Val,ENST00000507625,;ADGRL3,missense_variant,p.Gly399Val,ENST00000506700,;ADGRL3,missense_variant,p.Gly399Val,ENST00000504896,;ADGRL3,missense_variant,p.Gly399Val,ENST00000514157,;ADGRL3,missense_variant,p.Gly399Val,ENST00000508946,;ADGRL3,missense_variant,p.Gly399Val,ENST00000514996,;	T	ENST00000514591	Transcript	missense_variant,splice_region_variant	1525/6297	1196/4410	399/1469	G/V	gGg/gTg	COSM4959706,COSM4959707,COSM4959708,COSM4959709	1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4	deleterious(0.04)		8/25													1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		.	.												T	3	4	70	61813809	61813809	G	T	1	0	0	0	0	1	0	0	0	377	1246	43	2		2	ADGRL3	4	61813809	Missense_Mutation	SNP	G	C3N-01030_TP	5497514	61813809	128400746	202	22379											
ADGRL3	0	.	GRCh38	chr4	61947008	61947008	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaacggaagctttgtcCacaaatcattctgttattgt	10	15	9	7	1	2	0	1	0	1	0	3	2	3	2	1	2	2	2	1	2	4	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2310C>A	p.=	p.S770S	ENST00000514591	15/25	247	189	58	337	336	1	strelka-varscan-mutect	ADGRL3,synonymous_variant,p.=,ENST00000512091,NM_001322246.1;ADGRL3,synonymous_variant,p.=,ENST00000514591,NM_015236.4;ADGRL3,synonymous_variant,p.=,ENST00000509896,;ADGRL3,synonymous_variant,p.=,ENST00000511324,;ADGRL3,synonymous_variant,p.=,ENST00000508693,;ADGRL3,synonymous_variant,p.=,ENST00000507164,;ADGRL3,synonymous_variant,p.=,ENST00000506720,;ADGRL3,synonymous_variant,p.=,ENST00000506746,;ADGRL3,synonymous_variant,p.=,ENST00000507625,;ADGRL3,synonymous_variant,p.=,ENST00000506700,;ADGRL3,synonymous_variant,p.=,ENST00000504896,;ADGRL3,synonymous_variant,p.=,ENST00000514157,;ADGRL3,synonymous_variant,p.=,ENST00000508946,;ADGRL3,synonymous_variant,p.=,ENST00000514996,;ADGRL3,synonymous_variant,p.=,ENST00000502815,;ADGRL3,non_coding_transcript_exon_variant,,ENST00000508078,;	A	ENST00000514591	Transcript	synonymous_variant	2639/6297	2310/4410	770/1469	S	tcC/tcA		1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4			15/25		hmmpanther:PTHR12011:SF60,hmmpanther:PTHR12011,Pfam_domain:PF16489																	LOW	1	SNV	5			1										PASS		rs1243411031	.												A	2	1	70	61947008	61947008	C	A	1	0	0	0	0	0	0	0	1	377	581	21	2		2	ADGRL3	4	61947008	Silent	SNP	C	C3N-01030_TP	133199	61947008	128267547	203	22380											
YTHDC1	0	.	GRCh38	chr4	68320206	68320206	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatcttctggtcgacgcCtacacaaattagacacatta	14	11	5	11	2	2	1	0	0	2	1	3	2	2	1	1	1	1	0	1	1	5	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1602-1G>T		p.X534_splice	ENST00000344157		105	83	22	131	131	0	strelka-varscan-mutect	YTHDC1,splice_acceptor_variant,,ENST00000344157,NM_001031732.2;YTHDC1,splice_acceptor_variant,,ENST00000355665,NM_133370.2;YTHDC1,splice_acceptor_variant,,ENST00000579690,;YTHDC1,upstream_gene_variant,,ENST00000507529,;YTHDC1,downstream_gene_variant,,ENST00000506175,;	A	ENST00000344157	Transcript	splice_acceptor_variant	-/6232	1602/2184	534/727				1		-1	YTHDC1	HGNC	HGNC:30626	protein_coding	YES	CCDS33992.1	ENSP00000339245	Q96MU7		UPI000020B86D	NM_001031732.2				11/16																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	70	68320206	68320206	C	A	1	0	0	0	0	0	0	1	0	18057	695	24	2		2	YTHDC1	4	68320206	Splice_Site	SNP	C	C3N-01030_TP	6373198	68320206	121894349	204	22381											
SULT1E1	0	.	GRCh38	chr4	69847746	69847746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacacgtggactctttccCttttcccaccaagattttac	9	14	5	13	1	1	1	0	0	1	1	3	2	3	2	3	1	2	1	3	1	3	6	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.543G>T	p.Lys181Asn	p.K181N	ENST00000226444	6/8	98	85	13	169	169	0	strelka-varscan-mutect	SULT1E1,missense_variant,p.Lys181Asn,ENST00000226444,NM_005420.2;SULT1E1,missense_variant,p.Lys14Asn,ENST00000506796,;SULT1E1,downstream_gene_variant,,ENST00000504002,;	A	ENST00000226444	Transcript	missense_variant	656/1780	543/885	181/294	K/N	aaG/aaT		1		-1	SULT1E1	HGNC	HGNC:11377	protein_coding	YES	CCDS3531.1	ENSP00000226444	P49888	Q53X91	UPI00000623C8	NM_005420.2	tolerated(0.16)		6/8		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF53,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1298507007	.												A	3	1	70	69847746	69847746	C	A	1	0	0	0	0	1	0	0	0	15766	680	24	2		2	SULT1E1	4	69847746	Missense_Mutation	SNP	C	C3N-01030_TP	1527540	69847746	120366809	205	22382											
AMBN	0	.	GRCh38	chr4	70603280	70603280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttccaaatagcccgtttGatttctcacggaccaatgcc	10	13	6	12	2	1	1	1	1	1	0	3	2	2	2	4	1	2	1	4	1	3	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.669G>T	p.Leu223Phe	p.L223F	ENST00000322937	10/13	152	121	31	192	191	1	strelka-varscan-mutect	AMBN,missense_variant,p.Leu223Phe,ENST00000322937,NM_016519.5;AMBN,missense_variant,p.Leu222Phe,ENST00000613447,;AMBN,missense_variant,p.Leu208Phe,ENST00000449493,;	T	ENST00000322937	Transcript	missense_variant	772/2005	669/1344	223/447	L/F	ttG/ttT		1		1	AMBN	HGNC	HGNC:452	protein_coding	YES	CCDS3543.1	ENSP00000313809	Q9NP70	Q546D7	UPI000000DCCB	NM_016519.5	tolerated(0.28)		10/13		hmmpanther:PTHR14115,hmmpanther:PTHR14115:SF0,Pfam_domain:PF05111,SMART_domains:SM00817																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	70603280	70603280	G	T	1	0	0	0	0	1	0	0	0	659	1281	45	2		2	AMBN	4	70603280	Missense_Mutation	SNP	G	C3N-01030_TP	755534	70603280	119611275	206	22383											
CXCL13	0	.	GRCh38	chr4	77607769	77607769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagctcagtctttatccCtagacgcttcattgatcgaa	11	12	8	10	2	3	3	2	1	1	2	5	5	4	3	1	0	1	2	1	0	3	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.131C>A	p.Pro44His	p.P44H	ENST00000286758	3/5	184	144	40	236	236	0	strelka-varscan-mutect	CXCL13,missense_variant,p.Pro44His,ENST00000286758,NM_006419.2;CXCL13,non_coding_transcript_exon_variant,,ENST00000506590,;	A	ENST00000286758	Transcript	missense_variant	209/1203	131/330	44/109	P/H	cCt/cAt		1		1	CXCL13	HGNC	HGNC:10639	protein_coding	YES	CCDS3582.1	ENSP00000286758	O43927	Q53X90	UPI0000000CC9	NM_006419.2	tolerated(0.46)		3/5		Gene3D:2.40.50.40,Pfam_domain:PF00048,PROSITE_patterns:PS00471,hmmpanther:PTHR10179,hmmpanther:PTHR10179:SF27,SMART_domains:SM00199,Superfamily_domains:SSF54117																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	77607769	77607769	C	A	1	0	0	0	0	1	0	0	0	3891	681	24	2		2	CXCL13	4	77607769	Missense_Mutation	SNP	C	C3N-01030_TP	7004489	77607769	112606786	207	22384											
GPRIN3	0	.	GRCh38	chr4	89248011	89248011	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcccagggactctgcgtcCaaggatgcaccatacacttc	10	9	8	14	1	1	0	0	0	1	0	4	2	3	2	3	2	3	1	3	2	2	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2100G>T	p.Leu700Phe	p.L700F	ENST00000609438	2/2	170	127	43	162	162	0	strelka-varscan-mutect	GPRIN3,missense_variant,p.Leu700Phe,ENST00000609438,NM_198281.2;GPRIN3,missense_variant,p.Leu700Phe,ENST00000333209,;	A	ENST00000609438	Transcript	missense_variant	2619/14244	2100/2331	700/776	L/F	ttG/ttT		1		-1	GPRIN3	HGNC	HGNC:27733	protein_coding	YES	CCDS34030.1	ENSP00000476603	Q6ZVF9		UPI00001C1E20	NM_198281.2	deleterious(0)		2/2		hmmpanther:PTHR15718:SF6,hmmpanther:PTHR15718,Pfam_domain:PF15235																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	70	89248011	89248011	C	A	1	0	0	0	0	1	0	0	0	6610	593	21	2		2	GPRIN3	4	89248011	Missense_Mutation	SNP	C	C3N-01030_TP	11640242	89248011	100966544	208	22385											
GRID2	0	.	GRCh38	chr4	93515371	93515371	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaccgaagcaatggatCggagaacaatgttctggagt	14	8	12	7	2	2	1	1	0	1	1	3	6	2	3	1	3	3	2	1	3	5	1	rs757924739		C3N-01030_TP	C3N-01030_NB	C	C																c.2153C>A	p.Ser718Ter	p.S718*	ENST00000282020	13/16	125	96	29	112	112	0	strelka-varscan-mutect	GRID2,stop_gained,p.Ser718Ter,ENST00000282020,NM_001510.3;GRID2,stop_gained,p.Ser637Ter,ENST00000611049,;GRID2,stop_gained,p.Ser623Ter,ENST00000510992,NM_001286838.1;	A	ENST00000282020	Transcript	stop_gained	3188/6117	2153/3024	718/1007	S/*	tCg/tAg	rs757924739,COSM1130992	1		1	GRID2	HGNC	HGNC:4576	protein_coding	YES	CCDS3637.1	ENSP00000282020	O43424		UPI00001AEA78	NM_001510.3			13/16		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF109,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs757924739	.												A	4	1	70	93515371	93515371	C	A	1	0	0	0	0	0	1	0	0	6652	893	31	1		1	GRID2	4	93515371	Nonsense_Mutation	SNP	C	C3N-01030_TP	4267360	93515371	96699184	209	22386											
RAP1GDS1	0	.	GRCh38	chr4	98293477	98293477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactgaggatagtttagaagGatgcttggattgtctgcttc	9	14	13	5	0	1	2	0	1	1	1	2	6	1	5	0	3	2	3	0	3	3	6	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.77G>T	p.Gly26Val	p.G26V	ENST00000339360	2/15	115	86	29	158	157	1	strelka-varscan-mutect	RAP1GDS1,missense_variant,p.Gly25Val,ENST00000408927,NM_001100427.1;RAP1GDS1,missense_variant,p.Gly26Val,ENST00000453712,NM_021159.4;RAP1GDS1,missense_variant,p.Gly26Val,ENST00000339360,NM_001100426.1;RAP1GDS1,missense_variant,p.Gly26Val,ENST00000380158,NM_001100428.1;RAP1GDS1,missense_variant,p.Gly25Val,ENST00000408900,NM_001100429.1;RAP1GDS1,missense_variant,p.Gly26Val,ENST00000264572,NM_001100430.1;RAP1GDS1,missense_variant,p.Gly25Val,ENST00000514122,;RAP1GDS1,missense_variant,p.Gly25Val,ENST00000508213,;RAP1GDS1,missense_variant,p.Gly26Val,ENST00000511212,;RAP1GDS1,missense_variant,p.Gly25Val,ENST00000509011,;RAP1GDS1,non_coding_transcript_exon_variant,,ENST00000512857,;RAP1GDS1,non_coding_transcript_exon_variant,,ENST00000515187,;RAP1GDS1,missense_variant,p.Gly26Val,ENST00000503667,;RAP1GDS1,missense_variant,p.Gly25Val,ENST00000508490,;RAP1GDS1,missense_variant,p.Gly25Val,ENST00000510870,;RAP1GDS1,non_coding_transcript_exon_variant,,ENST00000511379,;RAP1GDS1,non_coding_transcript_exon_variant,,ENST00000505378,;RAP1GDS1,non_coding_transcript_exon_variant,,ENST00000507303,;	T	ENST00000339360	Transcript	missense_variant	125/2092	77/1827	26/608	G/V	gGa/gTa		1		1	RAP1GDS1	HGNC	HGNC:9859	protein_coding	YES	CCDS47105.1	ENSP00000340454	P52306		UPI000004A01F	NM_001100426.1	tolerated(0.22)		2/15		hmmpanther:PTHR10957,hmmpanther:PTHR10957:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	98293477	98293477	G	T	1	0	0	0	0	1	0	0	0	13198	1174	41	2		2	RAP1GDS1	4	98293477	Missense_Mutation	SNP	G	C3N-01030_TP	4778106	98293477	91921078	210	22387											
RP11-766F14.2	0	.	GRCh38	chr4	99651485	99651485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaggttagaggcgctgccaCcggccagcttgggcgtgagc	7	6	16	12	3	0	2	0	1	0	1	0	2	0	2	3	4	3	3	3	4	1	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.3164G>T	p.Gly1055Val	p.G1055V	ENST00000511828	1/2	226	172	54	197	197	0	strelka-varscan-mutect	RP11-766F14.2,missense_variant,p.Gly1055Val,ENST00000511828,;	A	ENST00000511828	Transcript	missense_variant	3164/10086	3164/5382	1055/1793	G/V	gGt/gTt		1		-1	RP11-766F14.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000427555		D6RIA3	UPI0001D3B6FE		deleterious(0.04)		1/2																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	99651485	99651485	C	A	1	0	0	0	0	1	0	0	0	13762	507	18	2		2	RP11-766F14.2	4	99651485	Missense_Mutation	SNP	C	C3N-01030_TP	1358008	99651485	90563070	211	22388											
TACR3	0	.	GRCh38	chr4	103589921	103589921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaaacctggtggtcttgaGctctagctcatcatagctgg	9	12	11	9	0	4	2	2	2	2	0	4	2	4	2	1	3	4	3	1	3	3	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1159C>A	p.Leu387Ile	p.L387I	ENST00000304883	5/5	377	295	82	338	338	0	strelka-varscan-mutect	TACR3,missense_variant,p.Leu387Ile,ENST00000304883,NM_001059.2;RP11-297P16.3,intron_variant,,ENST00000502936,;RP11-297P16.3,intron_variant,,ENST00000512401,;	T	ENST00000304883	Transcript	missense_variant	1300/5190	1159/1398	387/465	L/I	Ctc/Atc		1		-1	TACR3	HGNC	HGNC:11528	protein_coding	YES	CCDS3664.1	ENSP00000303325	P29371		UPI0000050413	NM_001059.2	deleterious(0.01)		5/5		Prints_domain:PR01026,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF46																	MODERATE	1	SNV	1			1										PASS		rs1353918699	.												T	3	4	70	103589921	103589921	G	T	1	0	0	0	0	1	0	0	0	15903	971	34	2		2	TACR3	4	103589921	Missense_Mutation	SNP	G	C3N-01030_TP	3938436	103589921	86624634	212	22389											
ANK2	0	.	GRCh38	chr4	113358380	113358380	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgaaccagctgtacaagtCcagttagatttttccacact	11	13	6	11	0	1	2	0	1	1	1	3	2	3	2	3	0	3	3	3	0	4	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.9762C>A	p.=	p.V3254V	ENST00000357077	38/46	133	97	36	173	173	0	strelka-varscan-mutect	ANK2,synonymous_variant,p.=,ENST00000357077,NM_001148.4;ANK2,synonymous_variant,p.=,ENST00000264366,;ANK2,synonymous_variant,p.=,ENST00000505342,;ANK2,3_prime_UTR_variant,,ENST00000612754,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;	A	ENST00000357077	Transcript	synonymous_variant	9815/14196	9762/11874	3254/3957	V	gtC/gtA		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4			38/46		hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	113358380	113358380	C	A	1	0	0	0	0	0	0	0	1	721	842	30	2		2	ANK2	4	113358380	Silent	SNP	C	C3N-01030_TP	9768459	113358380	76856175	213	22390											
BBS7	0	.	GRCh38	chr4	121859009	121859009	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgtaaaactctgagcaCtctgtcctggcaggccaata	12	9	8	12	0	2	1	0	1	2	0	3	1	3	1	3	2	3	3	3	2	5	2	rs377607757		C3N-01030_TP	C3N-01030_NB	C	C																c.511G>T	p.Val171Leu	p.V171L	ENST00000264499	5/19	218	155	63	235	235	0	strelka-varscan-mutect	BBS7,missense_variant,p.Val171Leu,ENST00000264499,NM_176824.2;BBS7,missense_variant,p.Val171Leu,ENST00000506636,NM_018190.3;BBS7,non_coding_transcript_exon_variant,,ENST00000505692,;BBS7,non_coding_transcript_exon_variant,,ENST00000508536,;BBS7,downstream_gene_variant,,ENST00000502444,;	A	ENST00000264499	Transcript	missense_variant	695/3752	511/2148	171/715	V/L	Gtg/Ttg	rs377607757	1		-1	BBS7	HGNC	HGNC:18758	protein_coding	YES	CCDS3724.1	ENSP00000264499	Q8IWZ6		UPI00001684D7	NM_176824.2	tolerated(0.1)		5/19		hmmpanther:PTHR16074,hmmpanther:PTHR16074:SF4,PIRSF_domain:PIRSF011091,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		rs377607757	.												A	3	1	70	121859009	121859009	C	A	1	0	0	0	0	1	0	0	0	1488	565	20	2		2	BBS7	4	121859009	Missense_Mutation	SNP	C	C3N-01030_TP	8500629	121859009	68355546	214	22391											
PCDH10	0	.	GRCh38	chr4	133151349	133151349	+	Frame_Shift_Del	DEL	C	C	-																															ctactgggagacgtgcctttCcgcctcaagtcttcctttaa																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1210delC	p.Arg404AlafsTer28	p.R404Afs*28	ENST00000264360	1/5	229	168	61	178	178	0	sindel-varindel-pindel	PCDH10,frameshift_variant,p.Arg404AlafsTer28,ENST00000264360,NM_032961.2;PCDH10,frameshift_variant,p.Arg404AlafsTer28,ENST00000618019,NM_020815.2;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;PCDH10,upstream_gene_variant,,ENST00000511112,;	-	ENST00000264360	Transcript	frameshift_variant	2035/8489	1209/3123	403/1040	F/X	ttC/tt		1		1	PCDH10	HGNC	HGNC:13404	protein_coding	YES	CCDS34063.1	ENSP00000264360	Q9P2E7	X5D999	UPI0000161C61	NM_032961.2			1/5		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF0,SMART_domains:SM00112,Superfamily_domains:SSF49313																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	70	133151349	133151349	C	-	1	0	1	0	1	0	0	0	0	11594	854	30	0		0	PCDH10	4	133151349	Frame_Shift_Del	DEL	C	C3N-01030_TP	11292340	133151349	57063206	215	22392											
FGG	0	.	GRCh38	chr4	154606975	154606975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgaacatggcatagtCtgcagtactgagaagaagga	14	8	11	8	0	1	3	0	2	1	2	1	5	1	4	1	2	3	3	1	2	5	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.859G>T	p.Asp287Tyr	p.D287Y	ENST00000336098	8/9	33	25	8	47	47	0	strelka-varscan-mutect	FGG,missense_variant,p.Asp287Tyr,ENST00000404648,NM_000509.4;FGG,missense_variant,p.Asp287Tyr,ENST00000336098,NM_021870.2;FGG,missense_variant,p.Asp295Tyr,ENST00000407946,;FGG,missense_variant,p.Asp295Tyr,ENST00000405164,;FGG,downstream_gene_variant,,ENST00000443553,;FGG,downstream_gene_variant,,ENST00000393846,;FGG,non_coding_transcript_exon_variant,,ENST00000492082,;FGG,non_coding_transcript_exon_variant,,ENST00000465913,;FGG,downstream_gene_variant,,ENST00000473393,;FGG,downstream_gene_variant,,ENST00000465336,;FGG,downstream_gene_variant,,ENST00000464532,;FGG,downstream_gene_variant,,ENST00000484695,;	A	ENST00000336098	Transcript	missense_variant	898/1659	859/1362	287/453	D/Y	Gac/Tac		1		-1	FGG	HGNC	HGNC:3694	protein_coding	YES	CCDS3788.1	ENSP00000336829	P02679		UPI000012A78D	NM_021870.2	tolerated(0.27)		8/9		Gene3D:3.90.215.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF22,SMART_domains:SM00186,Superfamily_domains:SSF56496																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	70	154606975	154606975	C	A	1	0	0	0	0	1	0	0	0	5734	913	32	2		2	FGG	4	154606975	Missense_Mutation	SNP	C	C3N-01030_TP	21455626	154606975	35607580	216	22393											
NPY1R	0	.	GRCh38	chr4	163325606	163325606	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgattccaatcaaacacAgtgttaaagatggtaagagg	16	10	10	5	0	1	4	1	2	0	2	2	4	2	4	1	2	1	2	1	2	5	3	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.852T>A	p.=	p.T284T	ENST00000296533	3/3	220	164	56	208	208	0	strelka-varscan-mutect	NPY1R,synonymous_variant,p.=,ENST00000296533,NM_000909.5;NPY1R,synonymous_variant,p.=,ENST00000509586,;NPY1R,synonymous_variant,p.=,ENST00000504391,;NPY1R,downstream_gene_variant,,ENST00000515701,;NPY1R,downstream_gene_variant,,ENST00000511901,;NPY1R,downstream_gene_variant,,ENST00000512819,;NPY1R,downstream_gene_variant,,ENST00000504790,;	T	ENST00000296533	Transcript	synonymous_variant	1384/3029	852/1155	284/384	T	acT/acA		1		-1	NPY1R	HGNC	HGNC:7956	protein_coding	YES	CCDS34089.1	ENSP00000354652	P25929		UPI000002D509	NM_000909.5			3/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF222,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	163325606	163325606	A	T	1	0	0	0	0	0	0	0	1	10663	175	7	4		4	NPY1R	4	163325606	Silent	SNP	A	C3N-01030_TP	8718631	163325606	26888949	217	22394											
SPOCK3	0	.	GRCh38	chr4	166737590	166737590	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaaccatcttcatcacacaGggggatatactgtcctgttg	10	12	9	10	0	3	0	2	0	1	0	4	1	4	1	2	2	2	2	2	2	3	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1018C>T	p.=	p.L340L	ENST00000357154	11/12	89	66	23	78	78	0	strelka-varscan-mutect	SPOCK3,synonymous_variant,p.=,ENST00000421836,NM_001204352.1;SPOCK3,synonymous_variant,p.=,ENST00000357154,NM_016950.2;SPOCK3,synonymous_variant,p.=,ENST00000506886,;SPOCK3,synonymous_variant,p.=,ENST00000357545,NM_001040159.1;SPOCK3,synonymous_variant,p.=,ENST00000511531,;SPOCK3,synonymous_variant,p.=,ENST00000504953,;SPOCK3,synonymous_variant,p.=,ENST00000541354,NM_001204355.1,NM_001204353.1;SPOCK3,synonymous_variant,p.=,ENST00000502330,;SPOCK3,synonymous_variant,p.=,ENST00000535728,NM_001204354.1;SPOCK3,synonymous_variant,p.=,ENST00000510741,NM_001204356.1;SPOCK3,synonymous_variant,p.=,ENST00000511269,;SPOCK3,synonymous_variant,p.=,ENST00000512681,NM_001251967.1;SPOCK3,3_prime_UTR_variant,,ENST00000502821,;SPOCK3,3_prime_UTR_variant,,ENST00000511905,;SPOCK3,3_prime_UTR_variant,,ENST00000505187,;SPOCK3,3_prime_UTR_variant,,ENST00000507370,;	A	ENST00000357154	Transcript	synonymous_variant	1156/2986	1018/1311	340/436	L	Ctg/Ttg		1		-1	SPOCK3	HGNC	HGNC:13565	protein_coding	YES	CCDS54817.1	ENSP00000349677	Q9BQ16		UPI000004BA60	NM_016950.2			11/12		PROSITE_profiles:PS51162,hmmpanther:PTHR22118,hmmpanther:PTHR22118:SF10,PROSITE_patterns:PS00484,Gene3D:4.10.800.10,Pfam_domain:PF00086,SMART_domains:SM00211,Superfamily_domains:SSF57610																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	70	166737590	166737590	G	A	1	0	0	0	0	0	0	0	1	15434	991	35	3		3	SPOCK3	4	166737590	Silent	SNP	G	C3N-01030_TP	3411984	166737590	23476965	218	22395											
DDX60L	0	.	GRCh38	chr4	168432529	168432529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgcaaaagttcatcaGatgtcttttgtttaaacagt	12	14	8	7	0	3	1	2	0	1	1	3	1	3	1	1	0	2	3	1	0	4	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1442C>A	p.Ser481Tyr	p.S481Y	ENST00000260184	12/38	136	102	34	196	195	1	strelka-varscan-mutect	DDX60L,missense_variant,p.Ser481Tyr,ENST00000511577,;DDX60L,missense_variant,p.Ser481Tyr,ENST00000260184,NM_001012967.2;DDX60L,missense_variant,p.Ser481Tyr,ENST00000505890,NM_001291510.1;DDX60L,missense_variant,p.Ser209Tyr,ENST00000505863,;	T	ENST00000260184	Transcript	missense_variant	1663/6754	1442/5121	481/1706	S/Y	tCt/tAt		1		-1	DDX60L	HGNC	HGNC:26429	protein_coding	YES	CCDS47161.1	ENSP00000260184	Q5H9U9		UPI0003EAE873	NM_001012967.2	tolerated(0.09)		12/38																			MODERATE	1	SNV	5			1										PASS		rs932190730	.												T	3	4	70	168432529	168432529	G	T	1	0	0	0	0	1	0	0	0	4182	942	33	2		2	DDX60L	4	168432529	Missense_Mutation	SNP	G	C3N-01030_TP	1694939	168432529	21782026	219	22396											
PALLD	0	.	GRCh38	chr4	168512221	168512222	+	Frame_Shift_Ins	INS	-	-	A																															aggtcaagtcccctggggccINSaggcattgctaccaggacaa																								novel		C3N-01030_TP	C3N-01030_NB	-	-																c.718dupA	p.Arg240LysfsTer54	p.R240Kfs*54	ENST00000505667	2/22	77	59	18	76	76	0	sindel-varindel-pindel	PALLD,frameshift_variant,p.Arg240LysfsTer54,ENST00000261509,NM_016081.3;PALLD,frameshift_variant,p.Arg240LysfsTer54,ENST00000505667,NM_001166108.1;PALLD,frameshift_variant,p.Arg219LysfsTer54,ENST00000508898,;PALLD,downstream_gene_variant,,ENST00000511948,;DDX60L,intron_variant,,ENST00000512958,;DDX60L,intron_variant,,ENST00000505150,;	A	ENST00000505667	Transcript	frameshift_variant	890-891/3637	717-718/3372	239-240/1123	-/X	-/A		1		1	PALLD	HGNC	HGNC:17068	protein_coding	YES	CCDS54818.1	ENSP00000425556	Q8WX93		UPI000189A85C	NM_001166108.1			2/22																			HIGH	1	insertion	1	1		1										PASS		.	.												A	7	5	70	168512221	168512221	-	A	1	0	1	1	0	0	0	0	0	11487	581	21	0		0	PALLD	4	168512221	Frame_Shift_Ins	INS	-	C3N-01030_TP	79692	168512221	21702334	220	22397											
HAND2	0	.	GRCh38	chr4	173528981	173528981	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccgctccttgcggttggcGgtgcctcggcgcttcaccgg	1	9	15	16	7	1	0	1	0	0	0	3	0	2	0	4	5	2	3	4	5	0	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.309C>T	p.=	p.T103T	ENST00000359562	1/2	169	160	9	137	137	0	strelka-mutect	HAND2,synonymous_variant,p.=,ENST00000359562,NM_021973.2;HAND2,synonymous_variant,p.=,ENST00000621866,;HAND2-AS1,intron_variant,,ENST00000512099,;HAND2-AS1,intron_variant,,ENST00000515310,;HAND2-AS1,upstream_gene_variant,,ENST00000502896,;HAND2-AS1,upstream_gene_variant,,ENST00000507062,;HAND2-AS1,upstream_gene_variant,,ENST00000510339,;HAND2-AS1,upstream_gene_variant,,ENST00000515350,;HAND2-AS1,upstream_gene_variant,,ENST00000507571,;HAND2-AS1,upstream_gene_variant,,ENST00000508534,;HAND2-AS1,upstream_gene_variant,,ENST00000503198,;HAND2-AS1,upstream_gene_variant,,ENST00000616485,;HAND2-AS1,upstream_gene_variant,,ENST00000503474,;HAND2-AS1,upstream_gene_variant,,ENST00000502334,;HAND2-AS1,upstream_gene_variant,,ENST00000514673,;HAND2-AS1,upstream_gene_variant,,ENST00000508887,;HAND2-AS1,upstream_gene_variant,,ENST00000515376,;HAND2-AS1,upstream_gene_variant,,ENST00000514431,;HAND2-AS1,upstream_gene_variant,,ENST00000512246,;HAND2-AS1,upstream_gene_variant,,ENST00000505621,;HAND2-AS1,upstream_gene_variant,,ENST00000507322,;HAND2-AS1,upstream_gene_variant,,ENST00000504740,;HAND2-AS1,upstream_gene_variant,,ENST00000515741,;HAND2-AS1,upstream_gene_variant,,ENST00000515345,;HAND2-AS1,upstream_gene_variant,,ENST00000504429,;HAND2-AS1,upstream_gene_variant,,ENST00000509640,;HAND2-AS1,upstream_gene_variant,,ENST00000509866,;HAND2-AS1,upstream_gene_variant,,ENST00000510268,;HAND2-AS1,upstream_gene_variant,,ENST00000511728,;HAND2-AS1,upstream_gene_variant,,ENST00000512929,;HAND2-AS1,upstream_gene_variant,,ENST00000507636,;HAND2-AS1,upstream_gene_variant,,ENST00000510221,;HAND2-AS1,upstream_gene_variant,,ENST00000511196,;HAND2-AS1,upstream_gene_variant,,ENST00000512209,;HAND2-AS1,upstream_gene_variant,,ENST00000512943,;HAND2-AS1,upstream_gene_variant,,ENST00000505032,;HAND2-AS1,upstream_gene_variant,,ENST00000503309,;HAND2-AS1,upstream_gene_variant,,ENST00000505817,;HAND2-AS1,upstream_gene_variant,,ENST00000502941,;HAND2,non_coding_transcript_exon_variant,,ENST00000505300,;HAND2,upstream_gene_variant,,ENST00000503024,;	A	ENST00000359562	Transcript	synonymous_variant	1249/2780	309/654	103/217	T	acC/acT		1		-1	HAND2	HGNC	HGNC:4808	protein_coding	YES	CCDS3819.1	ENSP00000352565	P61296		UPI0000003FE8	NM_021973.2			1/2		Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF41,Superfamily_domains:SSF47459																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	173528981	173528981	G	A	1	0	0	0	0	0	0	0	1	6836	1130	39	1		1	HAND2	4	173528981	Silent	SNP	G	C3N-01030_TP	5016760	173528981	16685574	221	22398											
TENM3	0	.	GRCh38	chr4	182754599	182754599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccactgccattgctgtgtCctacagtggggtcctgtaca	7	11	11	12	0	0	0	0	0	0	0	2	0	2	0	4	2	5	2	4	2	2	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.4232C>A	p.Ser1411Tyr	p.S1411Y	ENST00000511685	22/28	153	109	44	137	137	0	strelka-varscan-mutect	TENM3,missense_variant,p.Ser1411Tyr,ENST00000511685,NM_001080477.2;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;	A	ENST00000511685	Transcript	missense_variant	4355/10896	4232/8100	1411/2699	S/Y	tCc/tAc		1		1	TENM3	HGNC	HGNC:29944	protein_coding	YES	CCDS47165.1	ENSP00000424226	Q9P273	A0A140VJW8	UPI00006C0820	NM_001080477.2	deleterious(0)		22/28		Gene3D:2.120.10.30,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,Superfamily_domains:SSF101898																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	182754599	182754599	C	A	1	0	0	0	0	1	0	0	0	16173	855	30	2		2	TENM3	4	182754599	Missense_Mutation	SNP	C	C3N-01030_TP	9225618	182754599	7459956	222	22399											
SLC9A3	0	.	GRCh38	chr5	474885	474885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcccgggagcgttacatGtgtgtggactcggggagggc	6	7	20	8	3	0	0	0	0	0	0	1	4	0	3	1	6	2	1	1	6	1	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2499C>A	p.His833Gln	p.H833Q	ENST00000264938	16/17	106	90	16	69	69	0	strelka-varscan-mutect	SLC9A3,missense_variant,p.His833Gln,ENST00000264938,NM_004174.2;SLC9A3,missense_variant,p.His824Gln,ENST00000514375,NM_001284351.1;CTD-2228K2.7,intron_variant,,ENST00000607286,;PP7080,upstream_gene_variant,,ENST00000342584,;PP7080,upstream_gene_variant,,ENST00000510604,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606288,;PP7080,upstream_gene_variant,,ENST00000510714,;PP7080,upstream_gene_variant,,ENST00000502511,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606319,;CTD-2228K2.7,upstream_gene_variant,,ENST00000607005,;EXOC3,downstream_gene_variant,,ENST00000509294,;EXOC3,downstream_gene_variant,,ENST00000515601,;EXOC3,downstream_gene_variant,,ENST00000503889,;CTD-2228K2.7,upstream_gene_variant,,ENST00000534918,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606074,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606107,;SLC9A3,downstream_gene_variant,,ENST00000507407,;	T	ENST00000264938	Transcript	missense_variant,splice_region_variant	2509/2584	2499/2505	833/834	H/Q	caC/caA		1		-1	SLC9A3	HGNC	HGNC:11073	protein_coding	YES	CCDS3855.1	ENSP00000264938	P48764		UPI000013D597	NM_004174.2	deleterious_low_confidence(0.04)		16/17																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	474885	474885	G	T	1	0	0	0	0	1	0	0	0	14995	1391	48	2		2	SLC9A3	5	474885	Missense_Mutation	SNP	G	C3N-01030_TP		474885	181063374	223	22400											
SLC6A3	0	.	GRCh38	chr5	1414710	1414710	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtccttggccacgtccccGatgggcacactgtgcttctg	4	10	11	16	3	1	0	0	0	1	0	3	1	3	0	5	2	1	2	5	2	0	2	rs201605046		C3N-01030_TP	C3N-01030_NB	G	G																c.1137C>T	p.=	p.I379I	ENST00000270349	8/15	542	477	65	342	342	0	strelka-varscan-mutect	SLC6A3,synonymous_variant,p.=,ENST00000270349,NM_001044.4;SLC6A3,downstream_gene_variant,,ENST00000511750,;	A	ENST00000270349	Transcript	synonymous_variant	1265/3936	1137/1863	379/620	I	atC/atT	rs201605046	1		-1	SLC6A3	HGNC	HGNC:11049	protein_coding	YES	CCDS3863.1	ENSP00000270349	Q01959		UPI000013548F	NM_001044.4			8/15		PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF38,Pfam_domain:PF00209,Superfamily_domains:0053687																	LOW	1	SNV	1			1										PASS		rs201605046	.												A	2	1	70	1414710	1414710	G	A	1	0	0	0	0	0	0	0	1	14968	1048	37	1		1	SLC6A3	5	1414710	Silent	SNP	G	C3N-01030_TP	939825	1414710	180123549	224	22401											
LPCAT1	0	.	GRCh38	chr5	1494775	1494775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catggtcacagggatggcgtCgaagtaggacgagtgaggcg	10	6	18	7	4	1	1	1	1	0	0	2	5	1	3	0	5	0	1	0	5	2	1			C3N-01030_TP	C3N-01030_NB	C	C																c.418G>A	p.Asp140Asn	p.D140N	ENST00000283415	3/14	413	336	77	210	210	0	strelka-varscan-mutect	LPCAT1,missense_variant,p.Asp140Asn,ENST00000283415,NM_024830.3;LPCAT1,non_coding_transcript_exon_variant,,ENST00000514484,;LPCAT1,missense_variant,p.Asp140Asn,ENST00000475622,;LPCAT1,non_coding_transcript_exon_variant,,ENST00000513757,;LPCAT1,non_coding_transcript_exon_variant,,ENST00000507282,;	T	ENST00000283415	Transcript	missense_variant	551/3966	418/1605	140/534	D/N	Gac/Aac	COSM1671486	1		-1	LPCAT1	HGNC	HGNC:25718	protein_coding	YES	CCDS3864.1	ENSP00000283415	Q8NF37		UPI000004771C	NM_024830.3	deleterious(0)		3/14		hmmpanther:PTHR23063:SF11,hmmpanther:PTHR23063,Pfam_domain:PF01553,SMART_domains:SM00563,Superfamily_domains:0039877											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	70	1494775	1494775	C	T	1	0	0	0	0	1	0	0	0	8813	884	31	1		1	LPCAT1	5	1494775	Missense_Mutation	SNP	C	C3N-01030_TP	80065	1494775	180043484	225	22402											
ICE1	0	.	GRCh38	chr5	5464885	5464885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgctaaaagactgcgcctgGacactgggtccccagaacca	11	6	11	13	1	0	2	0	0	0	2	1	3	1	3	4	2	3	1	4	2	3	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.5551G>T	p.Asp1851Tyr	p.D1851Y	ENST00000296564	13/19	261	234	27	228	227	1	strelka-varscan-mutect	ICE1,missense_variant,p.Asp1851Tyr,ENST00000296564,NM_015325.2;	T	ENST00000296564	Transcript	missense_variant	5773/7927	5551/6801	1851/2266	D/Y	Gac/Tac		1		1	ICE1	HGNC	HGNC:29154	protein_coding	YES	CCDS47187.1	ENSP00000296564	Q9Y2F5		UPI00015542F9	NM_015325.2	deleterious(0)		13/19		hmmpanther:PTHR11852:SF4,hmmpanther:PTHR11852																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	5464885	5464885	G	T	1	0	0	0	0	1	0	0	0	7384	1174	41	2		2	ICE1	5	5464885	Missense_Mutation	SNP	G	C3N-01030_TP	3970110	5464885	176073374	226	22403											
ADCY2	0	.	GRCh38	chr5	7690823	7690823	+	Frame_Shift_Del	DEL	C	C	-																															tccacaacctgtatgtgaagCggcatacaaacgtgaggtac																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.853delC	p.Arg285GlyfsTer5	p.R285Gfs*5	ENST00000338316	5/25	73	54	19	62	62	0	sindel-varindel-pindel	ADCY2,frameshift_variant,p.Arg285GlyfsTer5,ENST00000338316,NM_020546.2;ADCY2,frameshift_variant,p.Arg74GlyfsTer5,ENST00000515681,;ADCY2,non_coding_transcript_exon_variant,,ENST00000513693,;	-	ENST00000338316	Transcript	frameshift_variant	942/6575	853/3276	285/1091	R/X	Cgg/gg		1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2			5/25		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,SMART_domains:SM00044,Superfamily_domains:SSF55073																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	70	7690823	7690823	C	-	1	0	1	0	1	0	0	0	0	338	759	27	0		0	ADCY2	5	7690823	Frame_Shift_Del	DEL	C	C3N-01030_TP	2225938	7690823	173847436	227	22404											
DNAH5	0	.	GRCh38	chr5	13716639	13716639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtcgtcagtgactctgcCtccatattgaatctctccta	9	14	6	12	1	3	2	1	2	2	0	7	2	5	2	3	0	1	0	3	0	4	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.12757G>T	p.Gly4253Cys	p.G4253C	ENST00000265104	74/79	427	220	207	404	403	1	strelka-varscan-mutect	DNAH5,missense_variant,p.Gly4253Cys,ENST00000265104,NM_001369.2;	A	ENST00000265104	Transcript	missense_variant	12862/15633	12757/13875	4253/4624	G/C	Ggc/Tgc		1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2	deleterious(0)		74/79		hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676,Pfam_domain:PF03028																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	13716639	13716639	C	A	1	0	0	0	0	1	0	0	0	4419	681	24	2		2	DNAH5	5	13716639	Missense_Mutation	SNP	C	C3N-01030_TP	6025816	13716639	167821620	228	22405											
FBXL7	0	.	GRCh38	chr5	15928177	15928177	+	Missense_Mutation	SNP	C	C	G																															accagctgtgccgctgcgcgCgagtgtgccgccgctggtac																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.415C>G	p.Arg139Gly	p.R139G	ENST00000504595	3/4	443	406	37	236	236	0	strelka-varscan	FBXL7,missense_variant,p.Arg139Gly,ENST00000504595,NM_012304.4;FBXL7,missense_variant,p.Arg97Gly,ENST00000329673,;FBXL7,missense_variant,p.Arg92Gly,ENST00000510662,NM_001278317.1;	G	ENST00000504595	Transcript	missense_variant	896/4562	415/1476	139/491	R/G	Cga/Gga		1		1	FBXL7	HGNC	HGNC:13604	protein_coding	YES	CCDS54833.1	ENSP00000423630	Q9UJT9		UPI00000724E0	NM_012304.4	tolerated(0.14)		3/4		Gene3D:3.80.10.10,Pfam_domain:PF12937,PROSITE_profiles:PS50181,hmmpanther:PTHR24006,SMART_domains:SM00256,Superfamily_domains:SSF81383																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	15928177	15928177	C	G	1	0	0	0	0	1	0	0	0	5587	760	27	4		4	FBXL7	5	15928177	Missense_Mutation	SNP	C	C3N-01030_TP	2211538	15928177	165610082	229	22406	472	2									
FBXL7	0	.	GRCh38	chr5	15928178	15928178	+	Missense_Mutation	SNP	G	G	C																															ccagctgtgccgctgcgcgcGagtgtgccgccgctggtaca																								rs201382361		C3N-01030_TP	C3N-01030_NB	G	G																c.416G>C	p.Arg139Pro	p.R139P	ENST00000504595	3/4	445	409	36	236	236	0	strelka-varscan	FBXL7,missense_variant,p.Arg139Pro,ENST00000504595,NM_012304.4;FBXL7,missense_variant,p.Arg97Pro,ENST00000329673,;FBXL7,missense_variant,p.Arg92Pro,ENST00000510662,NM_001278317.1;	C	ENST00000504595	Transcript	missense_variant	897/4562	416/1476	139/491	R/P	cGa/cCa	rs201382361,COSM3247192	1		1	FBXL7	HGNC	HGNC:13604	protein_coding	YES	CCDS54833.1	ENSP00000423630	Q9UJT9		UPI00000724E0	NM_012304.4	deleterious(0.05)		3/4		Gene3D:3.80.10.10,Pfam_domain:PF12937,PROSITE_profiles:PS50181,hmmpanther:PTHR24006,SMART_domains:SM00256,Superfamily_domains:SSF81383											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												C	3	2	70	15928178	15928178	G	C	1	0	0	0	0	1	0	0	0	5587	1058	37	4		4	FBXL7	5	15928178	Missense_Mutation	SNP	G	C3N-01030_TP	1	15928178	165610081	230	22407	472	2									
PRDM9	0	.	GRCh38	chr5	23524343	23524343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgaccccaggtatgtgaaCtgtgcccgggatgatgaaga	10	9	13	9	1	0	5	0	4	0	1	0	6	0	6	3	2	2	1	3	2	3	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.960C>A	p.Asn320Lys	p.N320K	ENST00000296682	10/11	396	308	88	378	377	1	strelka-varscan	PRDM9,missense_variant,p.Asn320Lys,ENST00000296682,NM_020227.2;PRDM9,missense_variant,p.Asn261Lys,ENST00000635252,;	A	ENST00000296682	Transcript	missense_variant	1142/3691	960/2685	320/894	N/K	aaC/aaA		1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	deleterious(0)		10/11		PROSITE_profiles:PS50280,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,Pfam_domain:PF00856,Gene3D:2.170.270.10,Superfamily_domains:SSF82199																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	23524343	23524343	C	A	1	0	0	0	0	1	0	0	0	12595	564	20	2		2	PRDM9	5	23524343	Missense_Mutation	SNP	C	C3N-01030_TP	7596165	23524343	158013916	231	22408											
GOLPH3	0	.	GRCh38	chr5	32126347	32126347	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgctcgtccagaagaggAgcaaaagcattctccaggac	13	7	10	11	1	1	2	0	0	1	2	4	4	2	4	2	2	4	3	2	2	4	2	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.762T>A	p.=	p.A254A	ENST00000265070	4/4	354	334	20	239	238	1	strelka-varscan	GOLPH3,synonymous_variant,p.=,ENST00000265070,NM_022130.3;CTD-2152M20.2,upstream_gene_variant,,ENST00000503441,;GOLPH3,downstream_gene_variant,,ENST00000512668,;GOLPH3,downstream_gene_variant,,ENST00000503610,;	T	ENST00000265070	Transcript	synonymous_variant	1078/2721	762/897	254/298	A	gcT/gcA		1		-1	GOLPH3	HGNC	HGNC:15452	protein_coding	YES	CCDS3896.1	ENSP00000265070	Q9H4A6		UPI000006EEF4	NM_022130.3			4/4		hmmpanther:PTHR12704:SF3,hmmpanther:PTHR12704,Pfam_domain:PF05719,Gene3D:2zihB00																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	32126347	32126347	A	T	1	0	0	0	0	0	0	0	1	6462	291	11	4		4	GOLPH3	5	32126347	Silent	SNP	A	C3N-01030_TP	8602004	32126347	149411912	232	22409											
SLC45A2	0	.	GRCh38	chr5	33963696	33963696	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgcatctttacctgttCagcatgatttttgttttttg	6	22	7	6	0	2	1	1	1	1	0	2	1	2	1	1	0	3	5	1	0	1	9	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.883G>T	p.Glu295Ter	p.E295*	ENST00000296589	3/7	319	291	28	294	294	0	strelka-varscan	SLC45A2,stop_gained,p.Glu295Ter,ENST00000382102,NM_001012509.3;SLC45A2,stop_gained,p.Glu295Ter,ENST00000296589,NM_016180.4;SLC45A2,stop_gained,p.Glu120Ter,ENST00000510600,;SLC45A2,intron_variant,,ENST00000509381,NM_001297417.2;SLC45A2,non_coding_transcript_exon_variant,,ENST00000505056,;	A	ENST00000296589	Transcript	stop_gained	1030/1772	883/1593	295/530	E/*	Gaa/Taa		1		-1	SLC45A2	HGNC	HGNC:16472	protein_coding	YES	CCDS3901.1	ENSP00000296589	Q9UMX9	A0A076YIB8	UPI00001AEC19	NM_016180.4			3/7		hmmpanther:PTHR19432,hmmpanther:PTHR19432:SF34																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	33963696	33963696	C	A	1	0	0	0	0	0	1	0	0	14918	840	29	2		2	SLC45A2	5	33963696	Nonsense_Mutation	SNP	C	C3N-01030_TP	1837349	33963696	147574563	233	22410											
SPEF2	0	.	GRCh38	chr5	35776268	35776268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaatagaaatagccacgCaatttcgacttgaactgata	16	10	7	8	2	0	3	0	2	0	1	1	4	0	3	1	0	3	2	1	0	7	5			C3N-01030_TP	C3N-01030_NB	C	C																c.4090C>A	p.Gln1364Lys	p.Q1364K	ENST00000356031	29/37	73	68	5	96	96	0	strelka-varscan	SPEF2,missense_variant,p.Gln1364Lys,ENST00000637569,;SPEF2,missense_variant,p.Gln1359Lys,ENST00000440995,;SPEF2,missense_variant,p.Gln1364Lys,ENST00000356031,NM_024867.3;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,missense_variant,p.Gln15Lys,ENST00000506526,;SPEF2,missense_variant,p.Gln55Lys,ENST00000637061,;SPEF2,upstream_gene_variant,,ENST00000513078,;	A	ENST00000356031	Transcript	missense_variant	4244/5681	4090/5469	1364/1822	Q/K	Caa/Aaa	COSM4155810	1		1	SPEF2	HGNC	HGNC:26293	protein_coding	YES	CCDS43309.1	ENSP00000348314	Q9C093	A0A140VKD0	UPI0001505B9F	NM_024867.3	tolerated(0.98)		29/37		hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	70	35776268	35776268	C	A	1	0	0	0	0	1	0	0	0	15386	711	25	2		2	SPEF2	5	35776268	Missense_Mutation	SNP	C	C3N-01030_TP	1812572	35776268	145761991	234	22411											
UGT3A1	0	.	GRCh38	chr5	35965626	35965626	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaacatcagaaaattcttCactcggccccagaagtccat	15	8	6	12	1	3	3	2	0	1	3	5	3	4	3	3	1	1	0	3	1	5	2			C3N-01030_TP	C3N-01030_NB	C	C																c.603G>A	p.=	p.V201V	ENST00000274278	4/7	396	354	42	302	302	0	strelka-varscan	UGT3A1,synonymous_variant,p.=,ENST00000274278,NM_152404.3;UGT3A1,synonymous_variant,p.=,ENST00000625798,NM_001171873.1;UGT3A1,synonymous_variant,p.=,ENST00000503189,;UGT3A1,synonymous_variant,p.=,ENST00000507113,;UGT3A1,synonymous_variant,p.=,ENST00000333811,;UGT3A1,intron_variant,,ENST00000513233,;UGT3A1,3_prime_UTR_variant,,ENST00000515801,;	T	ENST00000274278	Transcript	synonymous_variant	961/5122	603/1572	201/523	V	gtG/gtA	COSM3615828,COSM3615829	1		-1	UGT3A1	HGNC	HGNC:26625	protein_coding	YES	CCDS3913.1	ENSP00000274278	Q6NUS8	A8K444	UPI000003C38B	NM_152404.3			4/7		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF208,Pfam_domain:PF00201,Superfamily_domains:SSF53756											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	70	35965626	35965626	C	T	1	0	0	0	0	0	0	0	1	17487	813	29	3		3	UGT3A1	5	35965626	Silent	SNP	C	C3N-01030_TP	189358	35965626	145572633	235	22412											
C5orf42	0	.	GRCh38	chr5	37157744	37157744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtaactctgcagacgatGgaactgctagatgatcgctt	12	11	10	8	2	1	3	0	1	1	2	2	5	1	4	0	1	4	4	0	1	4	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.7883C>T	p.Pro2628Leu	p.P2628L	ENST00000425232	40/52	266	211	55	234	234	0	strelka-varscan	C5orf42,missense_variant,p.Pro2628Leu,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Pro2628Leu,ENST00000508244,;C5orf42,missense_variant,p.Pro1694Leu,ENST00000514429,;C5orf42,missense_variant,p.Pro337Leu,ENST00000511824,;C5orf42,non_coding_transcript_exon_variant,,ENST00000511210,;C5orf42,upstream_gene_variant,,ENST00000508405,;C5orf42,missense_variant,p.Pro1650Leu,ENST00000509849,;C5orf42,non_coding_transcript_exon_variant,,ENST00000509957,;C5orf42,non_coding_transcript_exon_variant,,ENST00000515380,;C5orf42,non_coding_transcript_exon_variant,,ENST00000510830,;	A	ENST00000425232	Transcript	missense_variant	8114/11199	7883/9594	2628/3197	P/L	cCa/cTa		1		-1	C5orf42	HGNC	HGNC:25801	protein_coding	YES	CCDS34146.2	ENSP00000389014	Q9H799		UPI0001AAB3EA	NM_023073.3	deleterious(0.03)		40/52		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	37157744	37157744	G	A	1	0	0	0	0	1	0	0	0	2100	1348	47	3		3	C5orf42	5	37157744	Missense_Mutation	SNP	G	C3N-01030_TP	1192118	37157744	144380515	236	22413											
C5orf42	0	.	GRCh38	chr5	37183581	37183581	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacacctattacaggaagtgTattttgtgataacttttcat	13	16	6	6	0	1	1	1	1	0	0	1	2	1	2	1	1	3	1	1	1	6	8	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.4600A>T	p.Thr1534Ser	p.T1534S	ENST00000425232	26/52	174	150	24	195	195	0	strelka-varscan	C5orf42,missense_variant,p.Thr1534Ser,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Thr1534Ser,ENST00000508244,;C5orf42,missense_variant,p.Thr582Ser,ENST00000514429,;C5orf42,missense_variant,p.Thr539Ser,ENST00000509849,;	A	ENST00000425232	Transcript	missense_variant	4831/11199	4600/9594	1534/3197	T/S	Aca/Tca		1		-1	C5orf42	HGNC	HGNC:25801	protein_coding	YES	CCDS34146.2	ENSP00000389014	Q9H799		UPI0001AAB3EA	NM_023073.3	tolerated(0.52)		26/52		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	37183581	37183581	T	A	1	0	0	0	0	1	0	0	0	2100	1638	57	4		4	C5orf42	5	37183581	Missense_Mutation	SNP	T	C3N-01030_TP	25837	37183581	144354678	237	22414											
LIFR	0	.	GRCh38	chr5	38502772	38502772	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaacaagataacttgaatTttctactcctttgattgtga	13	15	6	7	0	1	4	0	3	1	1	2	4	2	4	1	0	4	1	1	0	5	7	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.1465A>T	p.Asn489Tyr	p.N489Y	ENST00000263409	11/20	165	129	36	165	165	0	strelka-varscan	LIFR,missense_variant,p.Asn489Tyr,ENST00000263409,NM_002310.5;LIFR,missense_variant,p.Asn489Tyr,ENST00000453190,NM_001127671.1;LIFR,non_coding_transcript_exon_variant,,ENST00000503088,;LIFR,upstream_gene_variant,,ENST00000506003,;	A	ENST00000263409	Transcript	missense_variant	1628/10089	1465/3294	489/1097	N/Y	Aat/Tat		1		-1	LIFR	HGNC	HGNC:6597	protein_coding	YES	CCDS3927.1	ENSP00000263409	P42702		UPI000004CAC2	NM_002310.5	tolerated(0.42)		11/20		PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF105,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	38502772	38502772	T	A	1	0	0	0	0	1	0	0	0	8689	1841	64	4		4	LIFR	5	38502772	Missense_Mutation	SNP	T	C3N-01030_TP	1319191	38502772	143035487	238	22415											
HMGCS1	0	.	GRCh38	chr5	43297158	43297158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgttgcatatgtgtccCacgaagccctattagaacca	11	10	9	11	1	0	1	0	0	0	1	1	2	1	1	3	1	3	3	3	1	5	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.583G>T	p.Gly195Trp	p.G195W	ENST00000325110	5/11	75	54	21	84	84	0	strelka-varscan	HMGCS1,missense_variant,p.Gly195Trp,ENST00000325110,NM_001098272.2;HMGCS1,missense_variant,p.Gly195Trp,ENST00000433297,NM_002130.7;HMGCS1,downstream_gene_variant,,ENST00000511774,;HMGCS1,downstream_gene_variant,,ENST00000507004,;HMGCS1,downstream_gene_variant,,ENST00000507293,;HMGCS1,upstream_gene_variant,,ENST00000508319,;HMGCS1,upstream_gene_variant,,ENST00000514610,;	A	ENST00000325110	Transcript	missense_variant	790/3506	583/1563	195/520	G/W	Ggg/Tgg		1		-1	HMGCS1	HGNC	HGNC:5007	protein_coding	YES	CCDS34154.1	ENSP00000322706	Q01581	A0A024R059	UPI000012C9BC	NM_001098272.2	deleterious(0)		5/11		Gene3D:3.40.47.10,Pfam_domain:PF08540,hmmpanther:PTHR11877,hmmpanther:PTHR11877:SF12,Superfamily_domains:SSF53901,TIGRFAM_domain:TIGR01833																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	43297158	43297158	C	A	1	0	0	0	0	1	0	0	0	7124	594	21	2		2	HMGCS1	5	43297158	Missense_Mutation	SNP	C	C3N-01030_TP	4794386	43297158	138241101	239	22416											
KIF2A	0	.	GRCh38	chr5	62385559	62385559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaacccgaagagaccccGtgccctttaaaccggcattt	12	8	7	14	3	1	1	1	0	0	1	1	3	1	1	5	1	3	1	5	1	5	3	rs780774764		C3N-01030_TP	C3N-01030_NB	G	G																c.2225G>T	p.Arg742Leu	p.R742L	ENST00000407818	21/21	151	112	39	163	163	0	strelka-varscan	KIF2A,missense_variant,p.Arg684Leu,ENST00000381103,NM_001243952.1;KIF2A,missense_variant,p.Arg704Leu,ENST00000401507,NM_001243953.1,NM_004520.4;KIF2A,missense_variant,p.Arg742Leu,ENST00000407818,NM_001098511.2;KIF2A,missense_variant,p.Arg658Leu,ENST00000506857,;DIMT1,downstream_gene_variant,,ENST00000199320,NM_014473.2;KIF2A,intron_variant,,ENST00000509663,;DIMT1,downstream_gene_variant,,ENST00000514605,;	T	ENST00000407818	Transcript	missense_variant	2246/2315	2225/2235	742/744	R/L	cGt/cTt	rs780774764	1		1	KIF2A	HGNC	HGNC:6318	protein_coding	YES	CCDS47216.1	ENSP00000385000	O00139		UPI0001533DB2	NM_001098511.2	deleterious(0)		21/21																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	62385559	62385559	G	T	1	0	0	0	0	1	0	0	0	8162	1145	40	1		1	KIF2A	5	62385559	Missense_Mutation	SNP	G	C3N-01030_TP	19088401	62385559	119152700	240	22417											
RNF180	0	.	GRCh38	chr5	64369613	64369613	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatatgttcatacatcttctAggtttccgcagacatgcagc	11	13	7	10	1	3	1	1	0	2	1	4	1	4	1	1	1	3	4	1	1	4	6	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.1580-2A>T		p.X527_splice	ENST00000389100		45	39	6	73	73	0	strelka-varscan	RNF180,splice_acceptor_variant,,ENST00000389100,NM_001113561.1;	T	ENST00000389100	Transcript	splice_acceptor_variant	-/4906	1580/1779	527/592				1		1	RNF180	HGNC	HGNC:27752	protein_coding	YES	CCDS47219.1	ENSP00000373752	Q86T96		UPI0000141201	NM_001113561.1				7/7																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	70	64369613	64369613	A	T	1	0	0	0	0	0	0	1	0	13641	434	15	4		4	RNF180	5	64369613	Splice_Site	SNP	A	C3N-01030_TP	1984054	64369613	117168646	241	22418											
SV2C	0	.	GRCh38	chr5	76131888	76131888	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatacacccagaggtcctaCagtcggttccaagatgaaga	14	7	10	10	1	0	4	0	1	0	3	3	5	2	4	3	2	2	1	3	2	5	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.138C>A	p.Tyr46Ter	p.Y46*	ENST00000502798	2/13	143	130	13	152	152	0	strelka-varscan-mutect	SV2C,stop_gained,p.Tyr46Ter,ENST00000502798,NM_014979.3;SV2C,stop_gained,p.Tyr46Ter,ENST00000322285,NM_001297716.1;	A	ENST00000502798	Transcript	stop_gained	580/11035	138/2184	46/727	Y/*	taC/taA		1		1	SV2C	HGNC	HGNC:30670	protein_coding	YES	CCDS43331.1	ENSP00000423541	Q496J9		UPI000011DDBB	NM_014979.3			2/13		TIGRFAM_domain:TIGR01299																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	76131888	76131888	C	A	1	0	0	0	0	0	1	0	0	15803	489	17	2		2	SV2C	5	76131888	Nonsense_Mutation	SNP	C	C3N-01030_TP	11762275	76131888	105406371	242	22419											
VCAN	0	.	GRCh38	chr5	83519951	83519951	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtaaccacaggtcactatGgattcaccttgggagaagag	12	9	12	8	0	2	2	2	0	0	2	2	4	2	3	2	4	1	1	2	4	3	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1645G>T	p.Gly549Ter	p.G549*	ENST00000265077	7/15	368	322	46	481	481	0	strelka-varscan-mutect	VCAN,stop_gained,p.Gly549Ter,ENST00000265077,NM_004385.4;VCAN,stop_gained,p.Gly549Ter,ENST00000342785,NM_001164098.1;VCAN,stop_gained,p.Gly501Ter,ENST00000512590,;VCAN,intron_variant,,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,intron_variant,,ENST00000515397,;	T	ENST00000265077	Transcript	stop_gained	2210/12625	1645/10191	549/3396	G/*	Gga/Tga		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4			7/15																			HIGH	1	SNV	1			1										PASS		rs1220156241	.												T	4	4	70	83519951	83519951	G	T	1	0	0	0	0	0	1	0	0	17683	1349	47	2		2	VCAN	5	83519951	Nonsense_Mutation	SNP	G	C3N-01030_TP	7388063	83519951	98018308	243	22420											
VCAN	0	.	GRCh38	chr5	83537519	83537519	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgttttccccacagtcccaTtccatgaggaatttgaaagt	11	13	7	10	0	0	2	0	2	0	0	3	3	3	3	4	1	0	1	4	1	2	4	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.4516T>A	p.Phe1506Ile	p.F1506I	ENST00000265077	8/15	230	204	26	251	251	0	strelka-varscan-mutect	VCAN,missense_variant,p.Phe1506Ile,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Phe519Ile,ENST00000343200,NM_001164097.1;VCAN,missense_variant,p.Phe519Ile,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	A	ENST00000265077	Transcript	missense_variant	5081/12625	4516/10191	1506/3396	F/I	Ttc/Atc		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	tolerated(0.18)		8/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	83537519	83537519	T	A	1	0	0	0	0	1	0	0	0	17683	1493	52	4		4	VCAN	5	83537519	Missense_Mutation	SNP	T	C3N-01030_TP	17568	83537519	98000740	244	22421											
VCAN	0	.	GRCh38	chr5	83542094	83542094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacgatagcagcatcagaaCagcaagtggcagcgagaatt	15	5	11	10	2	1	2	1	0	0	2	1	4	1	2	1	1	5	4	1	1	4	2			C3N-01030_TP	C3N-01030_NB	C	C																c.9091C>A	p.Gln3031Lys	p.Q3031K	ENST00000265077	8/15	66	40	26	73	73	0	strelka-varscan-mutect	VCAN,missense_variant,p.Gln3031Lys,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Gln2044Lys,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,intron_variant,,ENST00000513899,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,non_coding_transcript_exon_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	A	ENST00000265077	Transcript	missense_variant	9656/12625	9091/10191	3031/3396	Q/K	Cag/Aag	COSM5690783	1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	tolerated(0.71)		8/15		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	70	83542094	83542094	C	A	1	0	0	0	0	1	0	0	0	17683	479	17	2		2	VCAN	5	83542094	Missense_Mutation	SNP	C	C3N-01030_TP	4575	83542094	97996165	245	22422											
VCAN	0	.	GRCh38	chr5	83545564	83545564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgcaaaatgaacccgtGccttaacggaggcacctgtt	10	9	10	12	3	0	1	0	1	0	0	1	2	0	2	3	2	4	4	3	2	4	2			C3N-01030_TP	C3N-01030_NB	G	G																c.9293G>T	p.Cys3098Phe	p.C3098F	ENST00000265077	9/15	382	334	48	379	379	0	strelka-varscan-mutect	VCAN,missense_variant,p.Cys3098Phe,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Cys2111Phe,ENST00000343200,NM_001164097.1;VCAN,missense_variant,p.Cys1344Phe,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Cys1296Phe,ENST00000512590,;VCAN,missense_variant,p.Cys357Phe,ENST00000502527,NM_001126336.2;VCAN-AS1,intron_variant,,ENST00000513899,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,non_coding_transcript_exon_variant,,ENST00000507162,;	T	ENST00000265077	Transcript	missense_variant	9858/12625	9293/10191	3098/3396	C/F	tGc/tTc	COSM1070946	1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	deleterious(0)		9/15		PROSITE_profiles:PS50026,hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804,Pfam_domain:PF00008,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	70	83545564	83545564	G	T	1	0	0	0	0	1	0	0	0	17683	1319	46	2		2	VCAN	5	83545564	Missense_Mutation	SNP	G	C3N-01030_TP	3470	83545564	97992695	246	22423											
POU5F2	0	.	GRCh38	chr5	93740719	93740719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctcctgggcaaggaggcCcggctgtccccacaatctcc	6	7	12	16	1	1	0	0	0	1	0	4	1	3	1	5	4	1	3	5	4	2	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.845G>T	p.Gly282Val	p.G282V	ENST00000606183	1/1	155	111	44	164	164	0	strelka-varscan-mutect	POU5F2,missense_variant,p.Gly282Val,ENST00000606183,NM_153216.1;FAM172A,intron_variant,,ENST00000395965,NM_032042.5;FAM172A,intron_variant,,ENST00000505869,NM_001163418.1;FAM172A,intron_variant,,ENST00000509163,NM_001163417.1;FAM172A,intron_variant,,ENST00000509739,;RP11-185E12.2,upstream_gene_variant,,ENST00000606528,;FAM172A,intron_variant,,ENST00000502503,;	A	ENST00000606183	Transcript	missense_variant	919/8418	845/987	282/328	G/V	gGg/gTg		1		-1	POU5F2	HGNC	HGNC:26367	protein_coding	YES	CCDS59489.1	ENSP00000489796	Q8N7G0		UPI0000135E4C	NM_153216.1	deleterious(0)		1/1		hmmpanther:PTHR11636:SF14,hmmpanther:PTHR11636																	MODERATE		SNV				1										PASS		.	.												A	3	1	70	93740719	93740719	C	A	1	0	0	0	0	1	0	0	0	12399	623	22	2		2	POU5F2	5	93740719	Missense_Mutation	SNP	C	C3N-01030_TP	10195155	93740719	87797540	247	22424											
KIAA0825	0	.	GRCh38	chr5	94477133	94477133	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcctggtagtgattgcTcggaaggaatattggtttcg	7	16	12	6	2	0	1	0	1	0	0	3	3	1	3	1	4	1	3	1	4	4	7	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.1205A>T	p.Glu402Val	p.E402V	ENST00000513200	6/20	99	87	12	188	188	0	strelka-varscan-mutect	KIAA0825,missense_variant,p.Glu402Val,ENST00000513200,NM_001145678.1;KIAA0825,non_coding_transcript_exon_variant,,ENST00000504117,;	A	ENST00000513200	Transcript	missense_variant	1278/4942	1205/3828	402/1275	E/V	gAg/gTg		1		-1	KIAA0825	HGNC	HGNC:28532	protein_coding			ENSP00000424618		A0A088AWM3	UPI0001D3B505	NM_001145678.1	deleterious(0.01)		6/20		hmmpanther:PTHR33960:SF1,hmmpanther:PTHR33960																	MODERATE		SNV	5			1										PASS		rs1261394819	.												A	3	1	70	94477133	94477133	T	A	1	0	0	0	0	1	0	0	0	8091	1551	54	4		4	KIAA0825	5	94477133	Missense_Mutation	SNP	T	C3N-01030_TP	736414	94477133	87061126	248	22425											
GIN1	0	.	GRCh38	chr5	103108589	103108589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgaagacaaatttttttGctgctcttcttatgccactt	8	19	5	9	0	2	2	0	1	2	1	2	2	2	2	1	0	3	2	1	0	3	7	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.119C>A	p.Ala40Glu	p.A40E	ENST00000399004	2/8	86	78	8	171	170	1	varscan-mutect	GIN1,missense_variant,p.Ala40Glu,ENST00000399004,NM_017676.2;GIN1,missense_variant,p.Ala40Glu,ENST00000508629,;GIN1,upstream_gene_variant,,ENST00000511400,;GIN1,missense_variant,p.Ala40Glu,ENST00000512248,NM_001317954.1;GIN1,missense_variant,p.Ala40Glu,ENST00000513747,;GIN1,non_coding_transcript_exon_variant,,ENST00000513603,;	T	ENST00000399004	Transcript	missense_variant	214/3229	119/1569	40/522	A/E	gCa/gAa		1		-1	GIN1	HGNC	HGNC:25959	protein_coding	YES	CCDS43349.1	ENSP00000381970	Q9NXP7		UPI000020C3A9	NM_017676.2	deleterious(0)		2/8		hmmpanther:PTHR24559,hmmpanther:PTHR24559:SF192																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	103108589	103108589	G	T	1	0	0	0	0	1	0	0	0	6267	1319	46	2		2	GIN1	5	103108589	Missense_Mutation	SNP	G	C3N-01030_TP	8631456	103108589	78429670	249	22426											
APC	0	.	GRCh38	chr5	112838434	112838434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaattcaaataggacatGttctatgccttatgccaaat	15	12	7	7	0	2	0	1	0	1	0	2	2	2	2	2	2	2	1	2	2	7	5			C3N-01030_TP	C3N-01030_NB	G	G																c.2840G>C	p.Cys947Ser	p.C947S	ENST00000257430	16/16	206	169	37	290	290	0	strelka-varscan-mutect	APC,missense_variant,p.Cys947Ser,ENST00000257430,NM_000038.5;APC,missense_variant,p.Cys947Ser,ENST00000508376,NM_001127510.2;APC,missense_variant,p.Cys947Ser,ENST00000512211,;APC,missense_variant,p.Cys929Ser,ENST00000507379,NM_001127511.2;APC,downstream_gene_variant,,ENST00000504915,;APC,3_prime_UTR_variant,,ENST00000508624,;APC,3_prime_UTR_variant,,ENST00000502371,;CTC-554D6.1,intron_variant,,ENST00000520401,;	C	ENST00000257430	Transcript	missense_variant	2896/10701	2840/8532	947/2843	C/S	tGt/tCt	CD011087,CD104010,CM080073,COSM327126	1		1	APC	HGNC	HGNC:583	protein_coding	YES	CCDS4107.1	ENSP00000257430	P25054		UPI000013CF60	NM_000038.5	tolerated(0.53)		16/16		Pfam_domain:PF16629,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11											0,0,0,1						MODERATE		SNV	5		1,1,1,1	1										PASS		rs997271472	.												C	3	2	70	112838434	112838434	G	C	1	0	0	0	0	1	0	0	0	883	1377	48	4		4	APC	5	112838434	Missense_Mutation	SNP	G	C3N-01030_TP	9729845	112838434	68699825	250	22427											
FBN2	0	.	GRCh38	chr5	128272103	128272103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcacctgtggttcccaTcacattcatcaacatctgca	9	12	7	13	0	4	0	3	0	1	0	5	0	5	0	2	2	2	4	2	2	1	3			C3N-01030_TP	C3N-01030_NB	T	T																c.7856A>G	p.Asp2619Gly	p.D2619G	ENST00000508053	68/71	235	170	65	267	267	0	strelka-varscan	FBN2,missense_variant,p.Asp2619Gly,ENST00000508053,;FBN2,missense_variant,p.Asp2619Gly,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Asp2618Gly,ENST00000619499,;	C	ENST00000508053	Transcript	missense_variant	8831/11132	7856/8739	2619/2912	D/G	gAt/gGt	COSM5334297,COSM5334298	1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		tolerated(0.07)		68/71		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												C	3	2	70	128272103	128272103	T	C	1	0	0	0	0	1	0	0	0	5566	1435	50	5		5	FBN2	5	128272103	Missense_Mutation	SNP	T	C3N-01030_TP	15433669	128272103	53266156	251	22428											
SLC27A6	0	.	GRCh38	chr5	129033125	129033125	+	Missense_Mutation	SNP	G	G	T																															ggaaaaaatggaagcaacagGaacattcaaactattgaagc																								rs151144946		C3N-01030_TP	C3N-01030_NB	G	G																c.1703G>T	p.Gly568Val	p.G568V	ENST00000262462	10/10	91	83	8	202	201	1	strelka-varscan	SLC27A6,missense_variant,p.Gly568Val,ENST00000262462,;SLC27A6,missense_variant,p.Gly568Val,ENST00000395266,NM_014031.3,NM_001017372.1;SLC27A6,missense_variant,p.Gly568Val,ENST00000506176,;	T	ENST00000262462	Transcript	missense_variant	2713/3219	1703/1860	568/619	G/V	gGa/gTa	rs151144946	1		1	SLC27A6	HGNC	HGNC:11000	protein_coding	YES	CCDS4145.1	ENSP00000262462	Q9Y2P4		UPI0000038E83		deleterious(0.01)		10/10		hmmpanther:PTHR24096:SF98,hmmpanther:PTHR24096,Gene3D:3.30.300.30,Pfam_domain:PF13193,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	129033125	129033125	G	T	1	0	0	0	0	1	0	0	0	14800	1174	41	2		2	SLC27A6	5	129033125	Missense_Mutation	SNP	G	C3N-01030_TP	761022	129033125	52505134	252	22429	473	2									
SLC27A6	0	.	GRCh38	chr5	129033126	129033126	+	Silent	SNP	A	A	T																															gaaaaaatggaagcaacaggAacattcaaactattgaagca																								rs769592782		C3N-01030_TP	C3N-01030_NB	A	A																c.1704A>T	p.=	p.G568G	ENST00000262462	10/10	91	83	8	207	207	0	strelka-varscan	SLC27A6,synonymous_variant,p.=,ENST00000262462,;SLC27A6,synonymous_variant,p.=,ENST00000395266,NM_014031.3,NM_001017372.1;SLC27A6,synonymous_variant,p.=,ENST00000506176,;	T	ENST00000262462	Transcript	synonymous_variant	2714/3219	1704/1860	568/619	G	ggA/ggT	rs769592782	1		1	SLC27A6	HGNC	HGNC:11000	protein_coding	YES	CCDS4145.1	ENSP00000262462	Q9Y2P4		UPI0000038E83				10/10		hmmpanther:PTHR24096:SF98,hmmpanther:PTHR24096,Gene3D:3.30.300.30,Pfam_domain:PF13193,Superfamily_domains:SSF56801																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	129033126	129033126	A	T	1	0	0	0	0	0	0	0	1	14800	233	9	4		4	SLC27A6	5	129033126	Silent	SNP	A	C3N-01030_TP	1	129033126	52505133	253	22430	473	2									
RAD50	0	.	GRCh38	chr5	132640748	132640748	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatcattgccttggatgAgccaacaacaaatcttgacc	12	10	8	11	0	2	2	1	2	1	0	2	3	2	3	3	2	4	1	3	2	3	3	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.3695A>T	p.Glu1232Val	p.E1232V	ENST00000378823	24/25	476	443	33	497	497	0	strelka-varscan	RAD50,missense_variant,p.Glu1232Val,ENST00000378823,NM_005732.3;RAD50,missense_variant,p.Glu111Val,ENST00000455677,;TH2LCRR,intron_variant,,ENST00000435042,;TH2LCRR,intron_variant,,ENST00000457489,;TH2LCRR,intron_variant,,ENST00000458509,;TH2LCRR,intron_variant,,ENST00000417516,;RAD50,3_prime_UTR_variant,,ENST00000533482,;	T	ENST00000378823	Transcript	missense_variant	4082/8306	3695/3939	1232/1312	E/V	gAg/gTg		1		1	RAD50	HGNC	HGNC:9816	protein_coding	YES	CCDS34233.1	ENSP00000368100	Q92878		UPI000006E9ED	NM_005732.3	deleterious(0.04)		24/25		Gene3D:3.40.50.300,Pfam_domain:PF13558,hmmpanther:PTHR18867,hmmpanther:PTHR18867:SF12,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00606																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	132640748	132640748	A	T	1	0	0	0	0	1	0	0	0	13145	304	11	4		4	RAD50	5	132640748	Missense_Mutation	SNP	A	C3N-01030_TP	3607622	132640748	48897511	254	22431											
NEUROG1	0	.	GRCh38	chr5	135535414	135535414	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgttggccttgacgcgccGgctcctgcgcagcgagtgca	5	8	14	14	6	0	1	0	1	0	0	2	2	1	1	3	2	3	4	3	2	0	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.277C>A	p.=	p.R93R	ENST00000314744	1/1	152	133	19	134	134	0	strelka-varscan	NEUROG1,synonymous_variant,p.=,ENST00000314744,NM_006161.2;	T	ENST00000314744	Transcript	synonymous_variant	536/1668	277/714	93/237	R	Cgg/Agg		1		-1	NEUROG1	HGNC	HGNC:7764	protein_coding	YES	CCDS4187.1	ENSP00000317580	Q92886	F1T0H3	UPI0000072868	NM_006161.2			1/1		Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF92,Superfamily_domains:SSF47459																	LOW	1	SNV				1										PASS		.	.												T	2	4	70	135535414	135535414	G	T	1	0	0	0	0	0	0	0	1	10389	1115	39	1		1	NEUROG1	5	135535414	Silent	SNP	G	C3N-01030_TP	2894666	135535414	46002845	255	22432											
TRPC7	0	.	GRCh38	chr5	136251811	136251811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcccgaaatctagcaGgttccacaagtgcagcacgt	12	7	9	13	2	1	0	0	0	1	0	3	1	3	0	2	1	4	5	2	1	3	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1417C>A	p.Leu473Met	p.L473M	ENST00000513104	6/12	231	204	27	258	257	1	strelka-varscan	TRPC7,missense_variant,p.Leu473Met,ENST00000513104,NM_020389.2;TRPC7,missense_variant,p.Leu418Met,ENST00000502753,;TRPC7,missense_variant,p.Leu412Met,ENST00000378459,NM_001167577.1;TRPC7,missense_variant,p.Leu357Met,ENST00000352189,NM_001167576.1;TRPC7,3_prime_UTR_variant,,ENST00000503275,;TRPC7,3_prime_UTR_variant,,ENST00000514963,;	T	ENST00000513104	Transcript	missense_variant	1700/2987	1417/2589	473/862	L/M	Ctg/Atg		1		-1	TRPC7	HGNC	HGNC:20754	protein_coding	YES	CCDS47267.2	ENSP00000426070	Q9HCX4		UPI000004F27A	NM_020389.2	tolerated(0.23)		6/12		Pfam_domain:PF00520,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9,TIGRFAM_domain:TIGR00870,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	136251811	136251811	G	T	1	0	0	0	0	1	0	0	0	17090	991	35	2		2	TRPC7	5	136251811	Missense_Mutation	SNP	G	C3N-01030_TP	716397	136251811	45286448	256	22433											
PCDHA2	0	.	GRCh38	chr5	140797296	140797296	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcagccctagcttatctCaaggtccagactccgcagaa	10	9	7	15	1	2	2	2	0	1	2	5	2	4	2	4	1	2	2	4	1	4	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2332C>G	p.Gln778Glu	p.Q778E	ENST00000526136	1/4	374	297	77	347	347	0	strelka-varscan	PCDHA2,missense_variant,p.Gln778Glu,ENST00000526136,NM_018905.2;PCDHA2,missense_variant,p.Gln778Glu,ENST00000520672,NM_031496.1;PCDHA2,missense_variant,p.Gln778Glu,ENST00000378132,NM_031495.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA3,upstream_gene_variant,,ENST00000522353,NM_018906.2;PCDHA3,upstream_gene_variant,,ENST00000532566,NM_031497.1;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,intron_variant,,ENST00000624176,;	G	ENST00000526136	Transcript	missense_variant	2332/5254	2332/2847	778/948	Q/E	Caa/Gaa		1		1	PCDHA2	HGNC	HGNC:8668	protein_coding	YES	CCDS54914.1	ENSP00000431748	Q9Y5H9		UPI00001273C9	NM_018905.2	tolerated_low_confidence(0.07)		1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	140797296	140797296	C	G	1	0	0	0	0	1	0	0	0	11611	827	29	4		4	PCDHA2	5	140797296	Missense_Mutation	SNP	C	C3N-01030_TP	4545485	140797296	40740963	257	22434											
PCDHB14	0	.	GRCh38	chr5	141225629	141225629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttctcggtgctcctgttCgtggcggtgcggctgtgcag	1	13	15	12	4	2	0	0	0	2	0	5	0	3	0	1	4	3	4	1	4	0	2	rs782228717		C3N-01030_TP	C3N-01030_NB	C	C																c.2124C>T	p.=	p.F708F	ENST00000239449	1/1	359	275	84	344	344	0	strelka-varscan	PCDHB14,synonymous_variant,p.=,ENST00000239449,NM_018934.3;PCDHB14,synonymous_variant,p.=,ENST00000624896,;CH17-140K24.8,intron_variant,,ENST00000624396,;CH17-140K24.2,intron_variant,,ENST00000624192,;	T	ENST00000239449	Transcript	synonymous_variant	2698/4828	2124/2397	708/798	F	ttC/ttT	rs782228717,COSM3610943	1		1	PCDHB14	HGNC	HGNC:8685	protein_coding	YES	CCDS4256.1	ENSP00000239449	Q9Y5E9		UPI00001273E7	NM_018934.3			1/1		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix											0,1						LOW		SNV			0,1	1										PASS		.	.												T	2	4	70	141225629	141225629	C	T	1	0	0	0	0	0	0	0	1	11626	883	31	1		1	PCDHB14	5	141225629	Silent	SNP	C	C3N-01030_TP	428333	141225629	40312630	258	22435											
SH3TC2	0	.	GRCh38	chr5	149007003	149007003	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcaggtagcagtcctcagCcatctcatacatgtgcaggg	9	10	10	12	0	3	0	3	0	1	0	5	0	4	0	2	2	4	3	2	2	2	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.3553G>C	p.Ala1185Pro	p.A1185P	ENST00000515425	16/17	455	342	113	455	455	0	strelka-varscan	SH3TC2,missense_variant,p.Ala1185Pro,ENST00000515425,NM_024577.3;SH3TC2,missense_variant,p.Ala1178Pro,ENST00000512049,;SH3TC2,missense_variant,p.Ala47Pro,ENST00000502274,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000515229,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000510350,;SH3TC2,missense_variant,p.Ala1185Pro,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;SH3TC2,3_prime_UTR_variant,,ENST00000510779,;	G	ENST00000515425	Transcript	missense_variant	3655/4059	3553/3867	1185/1288	A/P	Gct/Cct		1		-1	SH3TC2	HGNC	HGNC:29427	protein_coding	YES	CCDS4293.1	ENSP00000423660	Q8TF17		UPI00001DFBEE	NM_024577.3	deleterious(0)		16/17		Gene3D:1.25.40.10,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2,SMART_domains:SM00028,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	149007003	149007003	C	G	1	0	0	0	0	1	0	0	0	14521	739	26	4		4	SH3TC2	5	149007003	Missense_Mutation	SNP	C	C3N-01030_TP	7781374	149007003	32531256	259	22436											
SH3TC2	0	.	GRCh38	chr5	149012582	149012582	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagagctctgcaggaggcctAcctgcaggcacagctccacc	9	5	12	15	0	1	1	0	0	1	1	2	3	2	2	4	3	5	5	4	3	1	1	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.3204+2T>C		p.X1068_splice	ENST00000515425		262	203	59	279	279	0	strelka-varscan	SH3TC2,splice_donor_variant,,ENST00000515425,NM_024577.3;SH3TC2,splice_donor_variant,,ENST00000512049,;SH3TC2,upstream_gene_variant,,ENST00000502274,;SH3TC2,upstream_gene_variant,,ENST00000515229,;SH3TC2,splice_donor_variant,,ENST00000323829,;SH3TC2,splice_donor_variant,,ENST00000504690,;SH3TC2,splice_donor_variant,,ENST00000504517,;SH3TC2,splice_donor_variant,,ENST00000510779,;	G	ENST00000515425	Transcript	splice_donor_variant	-/4059	3204/3867	1068/1288				1		-1	SH3TC2	HGNC	HGNC:29427	protein_coding	YES	CCDS4293.1	ENSP00000423660	Q8TF17		UPI00001DFBEE	NM_024577.3				13/16																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	70	149012582	149012582	A	G	1	0	0	0	0	0	0	1	0	14521	405	14	5		5	SH3TC2	5	149012582	Splice_Site	SNP	A	C3N-01030_TP	5579	149012582	32525677	260	22437											
AFAP1L1	0	.	GRCh38	chr5	149319607	149319607	+	Missense_Mutation	SNP	G	G	A																															ctgttcagaggacatgggtcGctggctcgggctgctgctgg																								rs150887335		C3N-01030_TP	C3N-01030_NB	G	G																c.1505G>A	p.Arg502His	p.R502H	ENST00000296721	13/19	62	46	16	86	86	0	strelka-varscan	AFAP1L1,missense_variant,p.Arg502His,ENST00000296721,NM_152406.2;AFAP1L1,missense_variant,p.Arg502His,ENST00000515000,NM_001146337.1;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000513665,;	A	ENST00000296721	Transcript	missense_variant	1603/4177	1505/2307	502/768	R/H	cGc/cAc	rs150887335,COSM4585607	1		1	AFAP1L1	HGNC	HGNC:26714	protein_coding	YES	CCDS34274.1	ENSP00000296721	Q8TED9		UPI00001C1E2F	NM_152406.2	tolerated(0.12)		13/19		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF1,SMART_domains:SM00233,Superfamily_domains:SSF50729											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	70	149319607	149319607	G	A	1	0	0	0	0	1	0	0	0	431	1087	38	1		1	AFAP1L1	5	149319607	Missense_Mutation	SNP	G	C3N-01030_TP	307025	149319607	32218652	261	22438	474	2									
AFAP1L1	0	.	GRCh38	chr5	149319608	149319608	+	Silent	SNP	C	C	A																															tgttcagaggacatgggtcgCtggctcgggctgctgctggt																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1506C>A	p.=	p.R502R	ENST00000296721	13/19	63	47	16	86	86	0	strelka-varscan	AFAP1L1,synonymous_variant,p.=,ENST00000296721,NM_152406.2;AFAP1L1,synonymous_variant,p.=,ENST00000515000,NM_001146337.1;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000513665,;	A	ENST00000296721	Transcript	synonymous_variant	1604/4177	1506/2307	502/768	R	cgC/cgA		1		1	AFAP1L1	HGNC	HGNC:26714	protein_coding	YES	CCDS34274.1	ENSP00000296721	Q8TED9		UPI00001C1E2F	NM_152406.2			13/19		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF1,SMART_domains:SM00233,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	149319608	149319608	C	A	1	0	0	0	0	0	0	0	1	431	784	28	2		2	AFAP1L1	5	149319608	Silent	SNP	C	C3N-01030_TP	1	149319608	32218651	262	22439	474	2									
ARHGEF37	0	.	GRCh38	chr5	149627254	149627254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggcaacagcggccgctGgctggtggacaccgggggta	9	4	17	11	3	0	0	0	0	0	0	0	1	0	1	2	7	2	4	2	7	3	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1643G>T	p.Trp548Leu	p.W548L	ENST00000333677	11/13	91	75	16	86	85	1	strelka-varscan	ARHGEF37,missense_variant,p.Trp548Leu,ENST00000333677,NM_001001669.2;ARHGEF37,non_coding_transcript_exon_variant,,ENST00000509831,;	T	ENST00000333677	Transcript	missense_variant	1806/4968	1643/2028	548/675	W/L	tGg/tTg		1		1	ARHGEF37	HGNC	HGNC:34430	protein_coding	YES	CCDS43385.1	ENSP00000328083	A1IGU5		UPI00001D7F04	NM_001001669.2	deleterious(0)		11/13		hmmpanther:PTHR22834,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	70	149627254	149627254	G	T	1	0	0	0	0	1	0	0	0	1040	1357	47	2		2	ARHGEF37	5	149627254	Missense_Mutation	SNP	G	C3N-01030_TP	307646	149627254	31911005	263	22440											
HMGXB3	0	.	GRCh38	chr5	150004949	150004949	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccacccaagaagaagAaaaagtataaaatacatgga	20	5	9	7	0	0	3	0	0	0	3	0	4	0	4	2	2	1	1	2	2	9	3	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.97A>T	p.Lys33Ter	p.K33*	ENST00000502717	2/20	136	103	33	194	194	0	strelka-varscan	HMGXB3,stop_gained,p.Lys279Ter,ENST00000613459,;HMGXB3,stop_gained,p.Lys33Ter,ENST00000503427,;HMGXB3,stop_gained,p.Lys33Ter,ENST00000502717,NM_014983.2;TIGD6,upstream_gene_variant,,ENST00000296736,NM_030953.3;TIGD6,upstream_gene_variant,,ENST00000515406,NM_001243253.1;TIGD6,upstream_gene_variant,,ENST00000532987,;	T	ENST00000502717	Transcript	stop_gained	561/4974	97/3879	33/1292	K/*	Aaa/Taa		1		1	HMGXB3	HGNC	HGNC:28982	protein_coding	YES	CCDS54935.1	ENSP00000421917	Q12766		UPI00001C1E29	NM_014983.2			2/20		Low_complexity_(Seg):seg,hmmpanther:PTHR17609:SF2,hmmpanther:PTHR17609,Superfamily_domains:SSF47095																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	70	150004949	150004949	A	T	1	0	0	0	0	0	1	0	0	7131	247	9	4		4	HMGXB3	5	150004949	Nonsense_Mutation	SNP	A	C3N-01030_TP	377695	150004949	31533310	264	22441											
CSF1R	0	.	GRCh38	chr5	150070200	150070200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctatcagtgtggccactgCactgcagccatgtcacgttg	8	10	10	13	1	2	0	2	0	0	0	2	0	2	0	3	1	3	3	3	1	1	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1301G>A	p.Cys434Tyr	p.C434Y	ENST00000286301	9/22	105	79	26	83	83	0	strelka-varscan	CSF1R,missense_variant,p.Cys434Tyr,ENST00000286301,NM_001288705.1,NM_005211.3;CSF1R,downstream_gene_variant,,ENST00000543093,;CSF1R,upstream_gene_variant,,ENST00000515239,;CSF1R,missense_variant,p.Cys434Tyr,ENST00000504875,;CSF1R,upstream_gene_variant,,ENST00000513609,;	T	ENST00000286301	Transcript	missense_variant	1593/3989	1301/2919	434/972	C/Y	tGc/tAc		1		-1	CSF1R	HGNC	HGNC:2433	protein_coding	YES	CCDS4302.1	ENSP00000286301	P07333		UPI000004984A	NM_001288705.1,NM_005211.3	deleterious(0)		9/22		PROSITE_profiles:PS50835,hmmpanther:PTHR24416:SF47,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000615,Pfam_domain:PF13927,Gene3D:2.60.40.10,PIRSF_domain:PIRSF500947,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	150070200	150070200	C	T	1	0	0	0	0	1	0	0	0	3733	710	25	3		3	CSF1R	5	150070200	Missense_Mutation	SNP	C	C3N-01030_TP	65251	150070200	31468059	265	22442											
ARSI	0	.	GRCh38	chr5	150298100	150298100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagggcccaggtgatgttgCgcacagcctcatccatgcag	8	8	13	12	1	1	2	1	2	0	0	2	2	2	2	3	2	3	3	3	2	0	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.824G>T	p.Arg275Leu	p.R275L	ENST00000328668	2/2	235	170	65	190	190	0	strelka-varscan	ARSI,missense_variant,p.Arg275Leu,ENST00000328668,NM_001012301.2;ARSI,missense_variant,p.Arg132Leu,ENST00000515301,;ARSI,downstream_gene_variant,,ENST00000509146,;	A	ENST00000328668	Transcript	missense_variant	1404/3161	824/1710	275/569	R/L	cGc/cTc		1		-1	ARSI	HGNC	HGNC:32521	protein_coding	YES	CCDS34275.1	ENSP00000333395	Q5FYB1		UPI000003FD83	NM_001012301.2	tolerated(0.09)		2/2		Gene3D:3.40.720.10,Pfam_domain:PF00884,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF68,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	150298100	150298100	C	A	1	0	0	0	0	1	0	0	0	1137	768	27	1		1	ARSI	5	150298100	Missense_Mutation	SNP	C	C3N-01030_TP	227900	150298100	31240159	266	22443											
ARSI	0	.	GRCh38	chr5	150298298	150298298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctgggcataaagcataGtggagtactggccgctgagc	9	7	15	10	3	0	1	0	1	0	0	0	2	0	2	1	3	3	5	1	3	4	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.626C>T	p.Thr209Ile	p.T209I	ENST00000328668	2/2	216	162	54	201	201	0	strelka-varscan	ARSI,missense_variant,p.Thr209Ile,ENST00000328668,NM_001012301.2;ARSI,missense_variant,p.Thr66Ile,ENST00000515301,;ARSI,missense_variant,p.Thr66Ile,ENST00000509146,;	A	ENST00000328668	Transcript	missense_variant	1206/3161	626/1710	209/569	T/I	aCt/aTt		1		-1	ARSI	HGNC	HGNC:32521	protein_coding	YES	CCDS34275.1	ENSP00000333395	Q5FYB1		UPI000003FD83	NM_001012301.2	deleterious(0)		2/2		Gene3D:3.40.720.10,Pfam_domain:PF00884,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF68,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	150298298	150298298	G	A	1	0	0	0	0	1	0	0	0	1137	1029	36	3		3	ARSI	5	150298298	Missense_Mutation	SNP	G	C3N-01030_TP	198	150298298	31239961	267	22444											
GABRA6	0	.	GRCh38	chr5	161689717	161689717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccagaagaatcttcaaGccttctccagtatgatctga	12	11	7	11	0	4	4	1	2	3	2	6	4	5	4	3	0	1	1	3	0	4	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.611G>T	p.Ser204Ile	p.S204I	ENST00000274545	6/9	114	89	25	202	202	0	strelka-varscan	GABRA6,missense_variant,p.Ser194Ile,ENST00000523217,;GABRA6,missense_variant,p.Ser204Ile,ENST00000274545,NM_000811.2;GABRA6,missense_variant,p.Ser144Ile,ENST00000520000,;GABRA6,missense_variant,p.Ser124Ile,ENST00000523691,;GABRA6,missense_variant,p.Ser151Ile,ENST00000517823,;RP11-348M17.2,upstream_gene_variant,,ENST00000521984,;GABRA6,downstream_gene_variant,,ENST00000522269,;GABRA6,downstream_gene_variant,,ENST00000518888,;GABRA6,non_coding_transcript_exon_variant,,ENST00000521520,;GABRA6,downstream_gene_variant,,ENST00000524220,;	T	ENST00000274545	Transcript	missense_variant	1044/2128	611/1362	204/453	S/I	aGc/aTc		1		1	GABRA6	HGNC	HGNC:4080	protein_coding	YES	CCDS4356.1	ENSP00000274545	Q16445		UPI000013DA14	NM_000811.2	deleterious(0)		6/9		Low_complexity_(Seg):seg,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR01079																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	161689717	161689717	G	T	1	0	0	0	0	1	0	0	0	6036	971	34	2		2	GABRA6	5	161689717	Missense_Mutation	SNP	G	C3N-01030_TP	11391419	161689717	19848542	268	22445											
GABRA6	0	.	GRCh38	chr5	161701666	161701666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaccagtaaaatagacCagtattctcgaattctcttc	13	11	7	10	1	2	1	0	0	2	1	5	3	2	1	2	1	0	3	2	1	5	6	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1255C>A	p.Gln419Lys	p.Q419K	ENST00000274545	9/9	309	253	56	337	337	0	strelka-varscan	GABRA6,missense_variant,p.Gln409Lys,ENST00000523217,;GABRA6,missense_variant,p.Gln419Lys,ENST00000274545,NM_000811.2;GABRA6,non_coding_transcript_exon_variant,,ENST00000521520,;	A	ENST00000274545	Transcript	missense_variant	1688/2128	1255/1362	419/453	Q/K	Cag/Aag		1		1	GABRA6	HGNC	HGNC:4080	protein_coding	YES	CCDS4356.1	ENSP00000274545	Q16445		UPI000013DA14	NM_000811.2	tolerated(1)		9/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Gene3D:1.20.58.390,Superfamily_domains:SSF90112,Prints_domain:PR01079																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	161701666	161701666	C	A	1	0	0	0	0	1	0	0	0	6036	595	21	2		2	GABRA6	5	161701666	Missense_Mutation	SNP	C	C3N-01030_TP	11949	161701666	19836593	269	22446											
GABRA1	0	.	GRCh38	chr5	161897321	161897321	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaaattgaccgactgtcaAgaatagccttcccgctgcta	12	9	8	12	2	1	2	1	1	0	1	2	3	2	2	3	0	2	3	3	0	6	4	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.1270A>T	p.Arg424Ter	p.R424*	ENST00000393943	10/10	209	155	54	244	244	0	strelka-varscan	GABRA1,stop_gained,p.Arg424Ter,ENST00000393943,NM_001127644.1,NM_001127648.1;GABRA1,stop_gained,p.Arg424Ter,ENST00000428797,NM_001127643.1;GABRA1,stop_gained,p.Arg439Ter,ENST00000638159,;GABRA1,stop_gained,p.Arg424Ter,ENST00000437025,NM_001127645.1;GABRA1,stop_gained,p.Arg424Ter,ENST00000638112,;GABRA1,stop_gained,p.Arg424Ter,ENST00000636573,;GABRA1,stop_gained,p.Arg424Ter,ENST00000023897,NM_000806.5;GABRA1,stop_gained,p.Arg424Ter,ENST00000637827,;GABRA1,stop_gained,p.Arg424Ter,ENST00000635880,;GABRA1,non_coding_transcript_exon_variant,,ENST00000636408,;GABRA1,3_prime_UTR_variant,,ENST00000637044,;GABRA1,3_prime_UTR_variant,,ENST00000636340,;	T	ENST00000393943	Transcript	stop_gained	2053/4686	1270/1371	424/456	R/*	Aga/Tga		1		1	GABRA1	HGNC	HGNC:4075	protein_coding	YES	CCDS4357.1	ENSP00000377517	P14867		UPI000012AF95	NM_001127644.1,NM_001127648.1			10/10		Gene3D:1.20.58.390,Prints_domain:PR00253,Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF514,Superfamily_domains:SSF90112,Transmembrane_helices:TMhelix																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	70	161897321	161897321	A	T	1	0	0	0	0	0	1	0	0	6031	64	3	4		4	GABRA1	5	161897321	Nonsense_Mutation	SNP	A	C3N-01030_TP	195655	161897321	19640938	270	22447											
TENM2	0	.	GRCh38	chr5	167375272	167375272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggctactgctccgacatgGggatccttcaccagggctac	7	8	12	14	2	1	0	1	0	0	0	3	2	3	1	3	4	3	3	3	4	2	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.301G>T	p.Gly101Trp	p.G101W	ENST00000518659	2/29	329	261	68	303	302	1	strelka-varscan	TENM2,missense_variant,p.Gly101Trp,ENST00000518659,NM_001122679.1;	T	ENST00000518659	Transcript	missense_variant	340/8550	301/8325	101/2774	G/W	Ggg/Tgg		1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1	deleterious_low_confidence(0)		2/29		PROSITE_profiles:PS51361,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,Pfam_domain:PF06484																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	167375272	167375272	G	T	1	0	0	0	0	1	0	0	0	16172	1232	43	2		2	TENM2	5	167375272	Missense_Mutation	SNP	G	C3N-01030_TP	5477951	167375272	14162987	271	22448											
TENM2	0	.	GRCh38	chr5	168162641	168162641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacttgtgcaacggtaacgGgagatgcacactgggtcaga	11	8	14	8	2	1	3	1	1	0	2	1	4	1	3	0	3	4	3	0	3	2	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2453G>A	p.Gly818Glu	p.G818E	ENST00000518659	13/29	132	115	17	120	119	1	strelka-varscan	TENM2,missense_variant,p.Gly697Glu,ENST00000519204,;TENM2,missense_variant,p.Gly818Glu,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Gly586Glu,ENST00000520394,;CTB-178M22.1,intron_variant,,ENST00000517408,;TENM2,upstream_gene_variant,,ENST00000521126,;	A	ENST00000518659	Transcript	missense_variant	2492/8550	2453/8325	818/2774	G/E	gGg/gAg		1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1	deleterious(0)		13/29		PROSITE_profiles:PS50026,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,Gene3D:2gy5A03,SMART_domains:SM00179,SMART_domains:SM00181																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	70	168162641	168162641	G	A	1	0	0	0	0	1	0	0	0	16172	1232	43	3		3	TENM2	5	168162641	Missense_Mutation	SNP	G	C3N-01030_TP	787369	168162641	13375618	272	22449											
SLIT3	0	.	GRCh38	chr5	168666668	168666668	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcggatcacctctcggactActtgtcccaggcacggattc	7	9	11	14	3	2	0	1	0	1	0	5	3	3	3	2	5	1	1	2	5	1	3	rs201812377		C3N-01030_TP	C3N-01030_NB	A	A																c.4379T>A	p.Val1460Glu	p.V1460E	ENST00000332966	36/36	168	125	43	150	150	0	strelka-varscan	SLIT3,missense_variant,p.Val1453Glu,ENST00000519560,NM_003062.3;SLIT3,missense_variant,p.Val1323Glu,ENST00000404867,;SLIT3,missense_variant,p.Val1460Glu,ENST00000332966,NM_001271946.1;CTC-558O2.2,non_coding_transcript_exon_variant,,ENST00000520041,;	T	ENST00000332966	Transcript	missense_variant	4452/4895	4379/4593	1460/1530	V/E	gTa/gAa	rs201812377	1		-1	SLIT3	HGNC	HGNC:11087	protein_coding	YES	CCDS64311.1	ENSP00000332164	O75094		UPI0001E8F75D	NM_001271946.1	tolerated(0.48)		36/36		PROSITE_profiles:PS01225																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	168666668	168666668	A	T	1	0	0	0	0	1	0	0	0	15032	391	14	4		4	SLIT3	5	168666668	Missense_Mutation	SNP	A	C3N-01030_TP	504027	168666668	12871591	273	22450											
SLIT3	0	.	GRCh38	chr5	168806526	168806526	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgatgttattgctgcaCgtgcagggcgaagggcagga	9	8	15	9	3	0	0	0	0	0	0	1	3	1	1	1	3	3	5	1	3	2	2	rs367972639		C3N-01030_TP	C3N-01030_NB	C	C																c.855G>T	p.=	p.T285T	ENST00000332966	9/36	206	170	36	164	164	0	strelka-varscan	SLIT3,synonymous_variant,p.=,ENST00000519560,NM_003062.3;SLIT3,synonymous_variant,p.=,ENST00000404867,;SLIT3,synonymous_variant,p.=,ENST00000332966,NM_001271946.1;SLIT3,non_coding_transcript_exon_variant,,ENST00000518140,;SLIT3,non_coding_transcript_exon_variant,,ENST00000521150,;	A	ENST00000332966	Transcript	synonymous_variant	928/4895	855/4593	285/1530	T	acG/acT	rs367972639,COSM1435904,COSM4942178,COSM4942179	1		-1	SLIT3	HGNC	HGNC:11087	protein_coding	YES	CCDS64311.1	ENSP00000332164	O75094		UPI0001E8F75D	NM_001271946.1			9/36		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Gene3D:3.80.10.10,Pfam_domain:PF01462,SMART_domains:SM00013											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		.	.												A	2	1	70	168806526	168806526	C	A	1	0	0	0	0	0	0	0	1	15032	523	19	1		1	SLIT3	5	168806526	Silent	SNP	C	C3N-01030_TP	139858	168806526	12731733	274	22451											
SLIT3	0	.	GRCh38	chr5	169251398	169251398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactacttacaagactcggaGgttcttgagcccagcgaagt	12	9	10	10	2	1	2	0	1	1	1	2	4	1	3	1	2	5	1	1	2	5	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.259C>A	p.Leu87Ile	p.L87I	ENST00000332966	2/36	99	81	18	111	111	0	strelka-varscan	SLIT3,missense_variant,p.Leu87Ile,ENST00000519560,NM_003062.3;SLIT3,missense_variant,p.Leu87Ile,ENST00000332966,NM_001271946.1;SLIT3,non_coding_transcript_exon_variant,,ENST00000521130,;SLIT3,non_coding_transcript_exon_variant,,ENST00000518140,;	T	ENST00000332966	Transcript	missense_variant	332/4895	259/4593	87/1530	L/I	Ctc/Atc		1		-1	SLIT3	HGNC	HGNC:11087	protein_coding	YES	CCDS64311.1	ENSP00000332164	O75094		UPI0001E8F75D	NM_001271946.1	deleterious(0.01)		2/36		PROSITE_profiles:PS51450,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	169251398	169251398	G	T	1	0	0	0	0	1	0	0	0	15032	1000	35	2		2	SLIT3	5	169251398	Missense_Mutation	SNP	G	C3N-01030_TP	444872	169251398	12286861	275	22452											
SH3PXD2B	0	.	GRCh38	chr5	172362735	172362735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatggtctaggtccccacCtgactcattcttctcgatga	8	12	9	12	1	4	3	1	2	3	1	6	5	5	3	3	2	0	0	3	2	1	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.562G>T	p.Gly188Cys	p.G188C	ENST00000311601	7/13	318	236	82	263	262	1	strelka-varscan	SH3PXD2B,missense_variant,p.Gly188Cys,ENST00000311601,NM_001017995.2;SH3PXD2B,missense_variant,p.Gly174Cys,ENST00000636523,;SH3PXD2B,missense_variant,p.Gly188Cys,ENST00000519643,NM_001308175.1;	A	ENST00000311601	Transcript	missense_variant,splice_region_variant	733/7777	562/2736	188/911	G/C	Ggt/Tgt		1		-1	SH3PXD2B	HGNC	HGNC:29242	protein_coding	YES	CCDS34291.1	ENSP00000309714	A1X283		UPI000020C12E	NM_001017995.2	deleterious(0)		7/13		Gene3D:2.30.30.40,Pfam_domain:PF00018,PROSITE_profiles:PS50002,hmmpanther:PTHR15706,hmmpanther:PTHR15706:SF8,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	172362735	172362735	C	A	1	0	0	0	0	1	0	0	0	14516	695	24	2		2	SH3PXD2B	5	172362735	Missense_Mutation	SNP	C	C3N-01030_TP	3111337	172362735	9175524	276	22453											
UNC5A	0	.	GRCh38	chr5	176870438	176870438	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcacccactggcggagcCgtgagtgctctgacccagca	8	6	12	15	2	1	2	0	2	1	0	1	3	1	3	3	2	4	3	3	2	0	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.790C>A	p.Arg264Ser	p.R264S	ENST00000329542	6/15	110	89	21	88	88	0	strelka-varscan	UNC5A,missense_variant,p.Arg264Ser,ENST00000329542,NM_133369.2;UNC5A,missense_variant,p.Arg286Ser,ENST00000509580,;UNC5A,3_prime_UTR_variant,,ENST00000513890,;	A	ENST00000329542	Transcript	missense_variant	1064/3812	790/2529	264/842	R/S	Cgt/Agt		1		1	UNC5A	HGNC	HGNC:12567	protein_coding	YES	CCDS34299.1	ENSP00000332737	Q6ZN44		UPI0000047F37	NM_133369.2	deleterious(0)		6/15		PROSITE_profiles:PS50092,hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	176870438	176870438	C	A	1	0	0	0	0	1	0	0	0	17515	652	23	1		1	UNC5A	5	176870438	Missense_Mutation	SNP	C	C3N-01030_TP	4507703	176870438	4667821	277	22454											
UNC5A	0	.	GRCh38	chr5	176879427	176879427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagataatttccagcctgGacccaccctgtaggcggggt	10	8	12	11	1	0	2	0	0	0	2	1	3	1	3	4	4	1	1	4	4	3	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2302G>T	p.Asp768Tyr	p.D768Y	ENST00000329542	14/15	132	110	22	79	79	0	strelka-varscan	UNC5A,missense_variant,p.Asp768Tyr,ENST00000329542,NM_133369.2;HK3,downstream_gene_variant,,ENST00000292432,NM_002115.2;HK3,downstream_gene_variant,,ENST00000514058,;HK3,downstream_gene_variant,,ENST00000506834,;HK3,downstream_gene_variant,,ENST00000514666,;	T	ENST00000329542	Transcript	missense_variant	2576/3812	2302/2529	768/842	D/Y	Gac/Tac		1		1	UNC5A	HGNC	HGNC:12567	protein_coding	YES	CCDS34299.1	ENSP00000332737	Q6ZN44		UPI0000047F37	NM_133369.2	deleterious(0)		14/15		hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582,Pfam_domain:PF00531,Gene3D:1.10.533.10,SMART_domains:SM00005,Superfamily_domains:SSF47986																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	176879427	176879427	G	T	1	0	0	0	0	1	0	0	0	17515	1174	41	2		2	UNC5A	5	176879427	Missense_Mutation	SNP	G	C3N-01030_TP	8989	176879427	4658832	278	22455											
HK3	0	.	GRCh38	chr5	176881519	176881519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggatggctcggacctgccGcagggccaggctgtcactgg	6	7	16	12	2	1	0	1	0	0	0	2	2	1	2	3	6	1	3	3	6	1	1	rs746886792		C3N-01030_TP	C3N-01030_NB	G	G																c.2410C>G	p.Arg804Gly	p.R804G	ENST00000292432	18/19	94	75	19	71	71	0	strelka-varscan	HK3,missense_variant,p.Arg804Gly,ENST00000292432,NM_002115.2;UNC5A,downstream_gene_variant,,ENST00000329542,NM_133369.2;HK3,downstream_gene_variant,,ENST00000514058,;HK3,non_coding_transcript_exon_variant,,ENST00000506834,;HK3,non_coding_transcript_exon_variant,,ENST00000514666,;	C	ENST00000292432	Transcript	missense_variant	2502/3066	2410/2772	804/923	R/G	Cgg/Ggg	rs746886792	1		-1	HK3	HGNC	HGNC:4925	protein_coding	YES	CCDS4407.1	ENSP00000292432	P52790	A0A024R7R1	UPI000006E237	NM_002115.2	tolerated(0.38)		18/19		PROSITE_profiles:PS51748,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF1,Gene3D:3.40.367.20,Pfam_domain:PF03727,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	176881519	176881519	G	C	1	0	0	0	0	1	0	0	0	7081	1086	38	4		4	HK3	5	176881519	Missense_Mutation	SNP	G	C3N-01030_TP	2092	176881519	4656740	279	22456											
COL23A1	0	.	GRCh38	chr5	178256929	178256929	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgctccctggctcgccCtgaaacagacacagctgcag	9	6	9	17	1	0	2	0	1	0	1	2	2	1	2	3	1	4	4	3	1	1	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.775-1G>T		p.X259_splice	ENST00000390654		105	73	32	75	75	0	strelka-varscan	COL23A1,splice_acceptor_variant,,ENST00000390654,NM_173465.3;COL23A1,splice_acceptor_variant,,ENST00000407622,;	A	ENST00000390654	Transcript	splice_acceptor_variant	-/3061	775/1623	259/540				1		-1	COL23A1	HGNC	HGNC:22990	protein_coding	YES	CCDS4436.1	ENSP00000375069	Q86Y22		UPI0000062274	NM_173465.3				13/28																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	70	178256929	178256929	C	A	1	0	0	0	0	0	0	1	0	3470	695	24	2		2	COL23A1	5	178256929	Splice_Site	SNP	C	C3N-01030_TP	1375410	178256929	3281330	280	22457											
MAK	0	.	GRCh38	chr6	10803753	10803754	+	Frame_Shift_Del	DEL	AA	AA	-																															cctaaaacttggcaaattttAaagatttcatcgacctcact																								novel		C3N-01030_TP	C3N-01030_NB	AA	AA																c.629_630delTT	p.Phe210Ter	p.F210*	ENST00000354489	7/15	223	197	26	295	295	0	sindel-varindel-pindel	MAK,frameshift_variant,p.Phe210Ter,ENST00000313243,;MAK,frameshift_variant,p.Phe210Ter,ENST00000354489,NM_001242957.1;MAK,frameshift_variant,p.Phe210Ter,ENST00000474039,NM_005906.4;MAK,frameshift_variant,p.Phe210Ter,ENST00000536370,NM_001242385.1;MAK,frameshift_variant,p.Phe210Ter,ENST00000538030,;TMEM14B,intron_variant,,ENST00000489137,;TMEM14B,intron_variant,,ENST00000463448,;RP11-637O19.3,intron_variant,,ENST00000480294,;TMEM14B,intron_variant,,ENST00000473166,;TMEM14B,intron_variant,,ENST00000460341,;TMEM14B,intron_variant,,ENST00000463100,;TMEM14B,intron_variant,,ENST00000467229,;TMEM14B,downstream_gene_variant,,ENST00000473807,;TMEM14B,downstream_gene_variant,,ENST00000478732,;	-	ENST00000354489	Transcript	frameshift_variant	911-912/3941	629-630/1947	210/648	F/X	tTT/t		1		-1	MAK	HGNC	HGNC:6816	protein_coding	YES	CCDS75399.1	ENSP00000346484	P20794		UPI000217CBBA	NM_001242957.1			7/15		PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF194,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH		deletion	5			1										PASS		.	.												-	7	5	70	10803753	10803753	AA	-	1	0	1	0	1	0	0	0	0	9116	359	13	0		0	MAK	6	10803753	Frame_Shift_Del	DEL	AA	C3N-01030_TP		10803753	160002226	281	22458											
ZBED9	0	.	GRCh38	chr6	28576136	28576136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaaaaccacaaaaatgacCctaaaaacaaaggaaaaaaa	26	3	5	7	0	0	1	0	1	0	0	0	3	0	3	2	2	2	0	2	2	11	1	rs746884939		C3N-01030_TP	C3N-01030_NB	C	C																c.569G>T	p.Gly190Val	p.G190V	ENST00000452236	3/4	15	11	4	34	34	0	strelka-varscan	ZBED9,missense_variant,p.Gly190Val,ENST00000452236,NM_052923.1;ZBED9,splice_region_variant,,ENST00000530247,;	A	ENST00000452236	Transcript	missense_variant,splice_region_variant	1187/4877	569/3978	190/1325	G/V	gGg/gTg	rs746884939	1		-1	ZBED9	HGNC	HGNC:13851	protein_coding	YES	CCDS34355.1	ENSP00000395259	Q6R2W3		UPI00001618B7	NM_052923.1	deleterious_low_confidence(0)		3/4																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	28576136	28576136	C	A	1	0	0	0	0	1	0	0	0	18086	637	22	2		2	ZBED9	6	28576136	Missense_Mutation	SNP	C	C3N-01030_TP	17772383	28576136	142229843	282	22459											
AGPAT1	0	.	GRCh38	chr6	32171296	32171296	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaccccttgcccctcaCttcatgttctcgacgttgcg	6	11	7	17	3	3	1	2	0	1	1	4	2	3	1	5	0	2	2	5	0	1	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.200+1G>T		p.X67_splice	ENST00000395499		224	109	115	162	162	0	strelka-varscan	AGPAT1,splice_donor_variant,,ENST00000395499,;AGPAT1,splice_donor_variant,,ENST00000375107,NM_006411.3;AGPAT1,splice_donor_variant,,ENST00000395497,;AGPAT1,splice_donor_variant,,ENST00000395496,;AGPAT1,splice_donor_variant,,ENST00000336984,NM_032741.4;AGPAT1,splice_donor_variant,,ENST00000375104,;EGFL8,downstream_gene_variant,,ENST00000395512,;EGFL8,downstream_gene_variant,,ENST00000333845,NM_030652.3;EGFL8,downstream_gene_variant,,ENST00000432129,;AGPAT1,upstream_gene_variant,,ENST00000617181,;AGPAT1,splice_donor_variant,,ENST00000490711,;AGPAT1,non_coding_transcript_exon_variant,,ENST00000476663,;PPT2-EGFL8,downstream_gene_variant,,ENST00000453656,;EGFL8,downstream_gene_variant,,ENST00000489721,;PPT2-EGFL8,3_prime_UTR_variant,,ENST00000422437,;PPT2-EGFL8,downstream_gene_variant,,ENST00000428388,;EGFL8,downstream_gene_variant,,ENST00000466239,;PPT2-EGFL8,downstream_gene_variant,,ENST00000583227,;PPT2-EGFL8,downstream_gene_variant,,ENST00000421600,;EGFL8,downstream_gene_variant,,ENST00000482938,;	A	ENST00000395499	Transcript	splice_donor_variant	-/2496	200/852	67/283				1		-1	AGPAT1	HGNC	HGNC:324	protein_coding	YES	CCDS4744.1	ENSP00000378877	Q99943	A0A024RCV5	UPI0000131BD2					2/6																		HIGH		SNV	5			1										PASS		.	.												A	5	1	70	32171296	32171296	C	A	1	0	0	0	0	0	0	1	0	468	579	20	2		2	AGPAT1	6	32171296	Splice_Site	SNP	C	C3N-01030_TP	3595160	32171296	138634683	283	22460											
BRPF3	0	.	GRCh38	chr6	36209786	36209786	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccccaccttccccacaGgtcaaagtccagcaggctgc	9	6	7	19	0	2	0	2	0	0	0	4	0	4	0	6	2	2	2	6	2	1	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1738-1G>T		p.X580_splice	ENST00000357641		97	73	24	112	112	0	strelka-varscan-mutect	BRPF3,splice_acceptor_variant,,ENST00000357641,NM_015695.2;BRPF3,splice_acceptor_variant,,ENST00000339717,;BRPF3,splice_acceptor_variant,,ENST00000534694,;BRPF3,splice_acceptor_variant,,ENST00000534400,;BRPF3,downstream_gene_variant,,ENST00000527657,;BRPF3,splice_acceptor_variant,,ENST00000441123,;BRPF3,splice_acceptor_variant,,ENST00000449261,;BRPF3,splice_acceptor_variant,,ENST00000532330,;BRPF3,upstream_gene_variant,,ENST00000441730,;BRPF3,upstream_gene_variant,,ENST00000532538,;	T	ENST00000357641	Transcript	splice_acceptor_variant	-/6052	1738/3618	580/1205				1		1	BRPF3	HGNC	HGNC:14256	protein_coding	YES	CCDS34437.1	ENSP00000350267	Q9ULD4		UPI00001C1E4C	NM_015695.2				4/12																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	70	36209786	36209786	G	T	1	0	0	0	0	0	0	1	0	1695	1014	35	2		2	BRPF3	6	36209786	Splice_Site	SNP	G	C3N-01030_TP	4038490	36209786	134596193	284	22461											
TREML1	0	.	GRCh38	chr6	41153762	41153762	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctaggataactcacctggGggcagtatgttcagagagac	11	8	13	9	0	2	2	2	0	0	2	2	4	2	3	2	3	1	3	2	3	3	4			C3N-01030_TP	C3N-01030_NB	G	G																c.372C>A	p.=	p.P124P	ENST00000426005	2/6	66	57	9	75	75	0	strelka-varscan-mutect	TREML1,synonymous_variant,p.=,ENST00000373127,NM_001271807.1;TREML1,synonymous_variant,p.=,ENST00000426005,NM_178174.3;TREML1,intron_variant,,ENST00000437044,NM_001271808.1;TREM2,downstream_gene_variant,,ENST00000373113,NM_018965.3;TREM2,downstream_gene_variant,,ENST00000373122,;TREM2,downstream_gene_variant,,ENST00000338469,NM_001271821.1;TREML1,upstream_gene_variant,,ENST00000590581,;	T	ENST00000426005	Transcript	synonymous_variant	416/981	372/936	124/311	P	ccC/ccA	COSM4916895	1		-1	TREML1	HGNC	HGNC:20434	protein_coding	YES	CCDS4851.1	ENSP00000402855	Q86YW5		UPI0000074451	NM_178174.3			2/6		hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF37,Gene3D:2.60.40.10											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	70	41153762	41153762	G	T	1	0	0	0	0	0	0	0	1	16961	1246	43	2		2	TREML1	6	41153762	Silent	SNP	G	C3N-01030_TP	4943976	41153762	129652217	285	22462											
FRS3	0	.	GRCh38	chr6	41775587	41775587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagcccagctccaccccctCatcatccacatttgtcacct	9	9	4	19	0	3	1	3	0	0	1	5	1	5	1	6	0	2	1	6	0	0	1			C3N-01030_TP	C3N-01030_NB	C	C																c.85G>A	p.Glu29Lys	p.E29K	ENST00000373018	4/7	428	397	31	266	266	0	strelka-varscan-mutect	FRS3,missense_variant,p.Glu29Lys,ENST00000373018,NM_006653.4;FRS3,missense_variant,p.Glu29Lys,ENST00000259748,;FRS3,missense_variant,p.Glu53Lys,ENST00000426290,;FRS3,missense_variant,p.Glu29Lys,ENST00000422888,;FRS3,downstream_gene_variant,,ENST00000466420,;PRICKLE4,upstream_gene_variant,,ENST00000456057,;	T	ENST00000373018	Transcript	missense_variant	337/2174	85/1479	29/492	E/K	Gag/Aag	COSM5672332	1		-1	FRS3	HGNC	HGNC:16970	protein_coding	YES	CCDS4860.1	ENSP00000362109	O43559	A0A140VJJ7	UPI0000073ACA	NM_006653.4	deleterious(0.01)		4/7		Gene3D:2.30.29.30,Pfam_domain:PF02174,PROSITE_profiles:PS51064,hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF39,SMART_domains:SM00310,SMART_domains:SM01244,Superfamily_domains:SSF50729											1						MODERATE	1	SNV	3		1	1										PASS		.	.												T	3	4	70	41775587	41775587	C	T	1	0	0	0	0	1	0	0	0	5934	835	29	3		3	FRS3	6	41775587	Missense_Mutation	SNP	C	C3N-01030_TP	621825	41775587	129030392	286	22463											
TCTE1	0	.	GRCh38	chr6	44286187	44286187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcggactggtcgcccGgccggagctgggccgggagc	4	5	19	13	5	0	1	0	1	0	0	2	4	0	4	3	6	2	1	3	6	0	0	rs577201749		C3N-01030_TP	C3N-01030_NB	G	G																c.623C>A	p.Pro208Gln	p.P208Q	ENST00000371505	3/5	106	79	27	76	76	0	strelka-varscan-mutect	TCTE1,missense_variant,p.Pro208Gln,ENST00000371505,NM_182539.3;TCTE1,missense_variant,p.Pro55Gln,ENST00000371504,;TMEM151B,intron_variant,,ENST00000438774,;RP11-444E17.6,intron_variant,,ENST00000505802,;	T	ENST00000371505	Transcript	missense_variant	746/3067	623/1506	208/501	P/Q	cCg/cAg	rs577201749	1		-1	TCTE1	HGNC	HGNC:11693	protein_coding	YES	CCDS4910.1	ENSP00000360560	Q5JU00		UPI0000160BC0	NM_182539.3	tolerated(0.51)		3/5		hmmpanther:PTHR24107:SF2,hmmpanther:PTHR24107																	MODERATE	1	SNV	1			1										PASS		rs577201749	.												T	3	4	70	44286187	44286187	G	T	1	0	0	0	0	1	0	0	0	16125	1116	39	1		1	TCTE1	6	44286187	Missense_Mutation	SNP	G	C3N-01030_TP	2510600	44286187	126519792	287	22464											
ADGRF2	0	.	GRCh38	chr6	47681632	47681632	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagccagtcttttggaaaAtgttactgtaaatgggcttg	11	13	12	5	0	1	0	0	0	1	0	1	2	1	2	1	3	2	3	1	3	6	5	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.1073A>T	p.Asn358Ile	p.N358I	ENST00000296862	6/6	156	119	37	158	158	0	strelka-varscan-mutect	ADGRF2,missense_variant,p.Asn290Ile,ENST00000398742,NM_153839.6;ADGRF2,missense_variant,p.Asn290Ile,ENST00000507065,;ADGRF2,missense_variant,p.Asn358Ile,ENST00000296862,;ADGRF4,upstream_gene_variant,,ENST00000371220,;ADGRF2,missense_variant,p.Asn290Ile,ENST00000467205,;	T	ENST00000296862	Transcript	missense_variant	1073/2127	1073/2127	358/708	N/I	aAt/aTt		1		1	ADGRF2	HGNC	HGNC:18991	protein_coding	YES		ENSP00000296862	Q8IZF7		UPI000007411C		deleterious(0.01)		6/6		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF54																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	47681632	47681632	A	T	1	0	0	0	0	1	0	0	0	364	101	4	4		4	ADGRF2	6	47681632	Missense_Mutation	SNP	A	C3N-01030_TP	3395445	47681632	123124347	288	22465											
PTCHD4	0	.	GRCh38	chr6	47879530	47879530	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtggtgctggtaggggttCgtctcatgatgggacgtctg	6	12	17	6	2	2	1	1	1	2	0	4	2	2	2	0	5	1	3	0	5	2	2	rs752591947		C3N-01030_TP	C3N-01030_NB	C	C																c.1314G>A	p.=	p.T438T	ENST00000339488	3/3	165	150	15	216	216	0	strelka-varscan-mutect	PTCHD4,synonymous_variant,p.=,ENST00000339488,NM_001013732.3;	T	ENST00000339488	Transcript	synonymous_variant	1348/2850	1314/2541	438/846	T	acG/acA	rs752591947,COSM1444978	1		-1	PTCHD4	HGNC	HGNC:21345	protein_coding	YES	CCDS34473.2	ENSP00000341914	Q6ZW05		UPI000179A8D3	NM_001013732.3			3/3		Pfam_domain:PF02460											0,1						LOW	1	SNV	2		0,1	1										PASS		rs752591947	.												T	2	4	70	47879530	47879530	C	T	1	0	0	0	0	0	0	0	1	12887	871	31	1		1	PTCHD4	6	47879530	Silent	SNP	C	C3N-01030_TP	197898	47879530	122926449	289	22466											
PKHD1	0	.	GRCh38	chr6	51934251	51934251	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatccaatccggagctctcCaccatcagaaacaaggatgg	13	6	10	12	1	2	1	1	0	1	1	5	4	4	4	4	4	2	1	4	4	3	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.5980G>T	p.Gly1994Ter	p.G1994*	ENST00000371117	37/67	337	243	94	296	296	0	strelka-varscan-mutect	PKHD1,stop_gained,p.Gly1994Ter,ENST00000371117,NM_138694.3;PKHD1,stop_gained,p.Gly1994Ter,ENST00000340994,NM_170724.2;	A	ENST00000371117	Transcript	stop_gained	6256/16282	5980/12225	1994/4074	G/*	Gga/Tga		1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3			37/67		PROSITE_profiles:PS51484,Pfam_domain:PF10162,SMART_domains:SM01225																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	51934251	51934251	C	A	1	0	0	0	0	0	1	0	0	12067	603	21	2		2	PKHD1	6	51934251	Nonsense_Mutation	SNP	C	C3N-01030_TP	4054721	51934251	118871728	290	22467											
ICK	0	.	GRCh38	chr6	53012174	53012174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaataagaccccaccttctCctactctttggctttatctc	9	14	4	14	0	3	1	0	0	3	1	5	2	3	1	4	1	1	1	4	1	4	6	rs752349756		C3N-01030_TP	C3N-01030_NB	C	C																c.1206G>T	p.Arg402Ser	p.R402S	ENST00000356971	11/15	338	266	72	385	384	1	strelka-varscan-mutect	ICK,missense_variant,p.Arg402Ser,ENST00000356971,NM_016513.4;ICK,missense_variant,p.Arg402Ser,ENST00000350082,NM_014920.3;	A	ENST00000356971	Transcript	missense_variant	1696/6227	1206/1899	402/632	R/S	agG/agT	rs752349756	1		-1	ICK	HGNC	HGNC:21219	protein_coding	YES	CCDS4949.1	ENSP00000349458	Q9UPZ9	A0A024RD59	UPI0000073DE8	NM_016513.4	deleterious(0.02)		11/15																			MODERATE	1	SNV	2			1										PASS		rs752349756	.												A	3	1	70	53012174	53012174	C	A	1	0	0	0	0	1	0	0	0	7386	854	30	2		2	ICK	6	53012174	Missense_Mutation	SNP	C	C3N-01030_TP	1077923	53012174	117793805	291	22468											
GCLC	0	.	GRCh38	chr6	53500142	53500142	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggtaagagttcagaattggGatcagtccaggaaacacacc	15	7	11	8	0	2	2	2	0	0	2	3	4	3	4	2	3	1	2	2	3	3	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1605C>G	p.Ile535Met	p.I535M	ENST00000229416	15/16	339	263	76	309	309	0	strelka-varscan-mutect	GCLC,missense_variant,p.Ile535Met,ENST00000229416,NM_001498.3;GCLC,missense_variant,p.Ile497Met,ENST00000616923,NM_001197115.1;RP1-27K12.4,upstream_gene_variant,,ENST00000508884,;GCLC,non_coding_transcript_exon_variant,,ENST00000509541,;GCLC,non_coding_transcript_exon_variant,,ENST00000515580,;GCLC,non_coding_transcript_exon_variant,,ENST00000510837,;GCLC,downstream_gene_variant,,ENST00000504353,;	C	ENST00000229416	Transcript	missense_variant	2089/3813	1605/1914	535/637	I/M	atC/atG		1		-1	GCLC	HGNC	HGNC:4311	protein_coding	YES	CCDS4952.1	ENSP00000229416	P48506	Q14TF0	UPI000000D970	NM_001498.3	tolerated(0.11)		15/16		hmmpanther:PTHR11164,Pfam_domain:PF03074,Superfamily_domains:SSF55931																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	53500142	53500142	G	C	1	0	0	0	0	1	0	0	0	6165	1164	41	4		4	GCLC	6	53500142	Missense_Mutation	SNP	G	C3N-01030_TP	487968	53500142	117305837	292	22469											
MLIP	0	.	GRCh38	chr6	54124710	54124710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgaacaaggccccccagggGggattggcaccgcagctgtc	8	6	14	13	1	0	1	0	1	0	0	1	2	0	2	4	5	2	3	4	5	2	2	rs778436086		C3N-01030_TP	C3N-01030_NB	G	G																c.490G>T	p.Gly164Trp	p.G164W	ENST00000502396	3/14	148	111	37	123	123	0	strelka-varscan-mutect	MLIP,missense_variant,p.Gly153Trp,ENST00000514921,NM_001281746.1;MLIP,missense_variant,p.Gly164Trp,ENST00000502396,NM_001281747.1;MLIP,missense_variant,p.Gly153Trp,ENST00000274897,NM_138569.2;MLIP,missense_variant,p.Gly112Trp,ENST00000503951,;MLIP,missense_variant,p.Gly101Trp,ENST00000370877,;MLIP,missense_variant,p.Gly91Trp,ENST00000370876,;MLIP,missense_variant,p.Gly101Trp,ENST00000509997,;MLIP,missense_variant,p.Gly154Trp,ENST00000514433,;MLIP,missense_variant,p.Gly35Trp,ENST00000447836,;MLIP,missense_variant,p.Gly35Trp,ENST00000511678,;MLIP,downstream_gene_variant,,ENST00000505762,;MLIP,downstream_gene_variant,,ENST00000460844,;MLIP,non_coding_transcript_exon_variant,,ENST00000511744,;	T	ENST00000502396	Transcript	missense_variant	522/3102	490/2982	164/993	G/W	Ggg/Tgg	rs778436086	1		1	MLIP	HGNC	HGNC:21355	protein_coding	YES	CCDS64449.1	ENSP00000426290	Q5VWP3		UPI0001D3BBBE	NM_001281747.1	deleterious(0)		3/14		hmmpanther:PTHR31514,hmmpanther:PTHR31514:SF1,Pfam_domain:PF15274																	MODERATE	1	SNV	2			1										PASS		rs778436086	.												T	3	4	70	54124710	54124710	G	T	1	0	0	0	0	1	0	0	0	9586	1232	43	2		2	MLIP	6	54124710	Missense_Mutation	SNP	G	C3N-01030_TP	624568	54124710	116681269	293	22470											
EYS	0	.	GRCh38	chr6	64081940	64081940	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttccttctccaggacaaActtcaaaaagggcagttcta	13	11	7	10	0	3	0	1	0	2	0	5	1	4	1	2	2	1	3	2	2	4	5	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.6487T>A	p.Phe2163Ile	p.F2163I	ENST00000370621	32/44	81	60	21	142	142	0	strelka-varscan-mutect	EYS,missense_variant,p.Phe2163Ile,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Phe2163Ile,ENST00000370621,NM_001292009.1;	T	ENST00000370621	Transcript	missense_variant	7014/10485	6487/9498	2163/3165	F/I	Ttt/Att		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	tolerated(0.28)		32/44		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	64081940	64081940	A	T	1	0	0	0	0	1	0	0	0	5200	43	2	4		4	EYS	6	64081940	Missense_Mutation	SNP	A	C3N-01030_TP	9957230	64081940	106724039	294	22471											
EYS	0	.	GRCh38	chr6	64822686	64822686	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatttgaaaggcaatcattGgcgtttgtttcacagtgtgt	9	15	12	5	1	2	1	2	1	0	0	2	2	2	2	0	3	0	3	0	3	2	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.3129C>A	p.=	p.A1043A	ENST00000370621	20/44	158	118	40	232	232	0	strelka-varscan-mutect	EYS,synonymous_variant,p.=,ENST00000503581,NM_001142800.1;EYS,synonymous_variant,p.=,ENST00000370621,NM_001292009.1;	T	ENST00000370621	Transcript	synonymous_variant	3656/10485	3129/9498	1043/3165	A	gcC/gcA		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1			20/44		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,SMART_domains:SM00179,Superfamily_domains:SSF57184																	LOW	1	SNV	1			1										PASS		rs911291244	.												T	2	4	70	64822686	64822686	G	T	1	0	0	0	0	0	0	0	1	5200	1335	47	2		2	EYS	6	64822686	Silent	SNP	G	C3N-01030_TP	740746	64822686	105983293	295	22472											
MRAP2	0	.	GRCh38	chr6	84055392	84055392	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgattacacctgggaatAtgaatattatgagattggac	13	14	9	5	0	1	3	0	3	1	1	1	6	1	5	1	2	1	0	1	2	6	6	rs754918660		C3N-01030_TP	C3N-01030_NB	A	A																c.74A>T	p.Tyr25Phe	p.Y25F	ENST00000257776	2/4	109	71	38	180	180	0	strelka-varscan-mutect	MRAP2,missense_variant,p.Tyr25Phe,ENST00000257776,NM_138409.2;	T	ENST00000257776	Transcript	missense_variant	209/2153	74/618	25/205	Y/F	tAt/tTt	rs754918660	1		1	MRAP2	HGNC	HGNC:21232	protein_coding	YES	CCDS5001.1	ENSP00000257776	Q96G30		UPI0000074376	NM_138409.2	tolerated(0.05)		2/4		hmmpanther:PTHR28675:SF1,hmmpanther:PTHR28675,Pfam_domain:PF15183,PD396861																	MODERATE	1	SNV	1			1										PASS		rs754918660	.												T	3	4	70	84055392	84055392	A	T	1	0	0	0	0	1	0	0	0	9720	449	16	4		4	MRAP2	6	84055392	Missense_Mutation	SNP	A	C3N-01030_TP	19232706	84055392	86750587	296	22473											
EPHA7	0	.	GRCh38	chr6	93410757	93410757	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgacagaaaccaaagctatGcaagcccctacatcctgaaa	16	7	6	12	0	0	3	0	2	0	1	1	3	1	3	4	0	5	2	4	0	6	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.576C>A	p.Cys192Ter	p.C192*	ENST00000369303	3/17	137	94	43	179	178	1	strelka-varscan-mutect	EPHA7,stop_gained,p.Cys192Ter,ENST00000369303,NM_001288629.1,NM_004440.3;EPHA7,stop_gained,p.Cys192Ter,ENST00000369297,NM_001288630.1;	T	ENST00000369303	Transcript	stop_gained	761/6588	576/2997	192/998	C/*	tgC/tgA		1		-1	EPHA7	HGNC	HGNC:3390	protein_coding	YES	CCDS5031.1	ENSP00000358309	Q15375		UPI0000044771	NM_001288629.1,NM_004440.3			3/17		Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,PROSITE_patterns:PS00790,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF377,SMART_domains:SM00615,Superfamily_domains:SSF49785																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	70	93410757	93410757	G	T	1	0	0	0	0	0	1	0	0	5019	1311	46	2		2	EPHA7	6	93410757	Nonsense_Mutation	SNP	G	C3N-01030_TP	9355365	93410757	77395222	297	22474											
SIM1	0	.	GRCh38	chr6	100390787	100390787	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtcacatggtgaagtgttGgcaagagcagagccatggca	11	8	15	7	0	1	3	1	1	0	2	1	3	1	3	1	4	2	4	1	4	2	1			C3N-01030_TP	C3N-01030_NB	G	G																c.1875C>A	p.=	p.A625A	ENST00000369208	12/12	213	168	45	282	282	0	strelka-varscan-mutect	SIM1,synonymous_variant,p.=,ENST00000369208,;SIM1,synonymous_variant,p.=,ENST00000262901,NM_005068.2;SIM1,downstream_gene_variant,,ENST00000505753,;	T	ENST00000369208	Transcript	synonymous_variant	2658/8430	1875/2301	625/766	A	gcC/gcA	COSM3941430	1		-1	SIM1	HGNC	HGNC:10882	protein_coding	YES	CCDS5045.1	ENSP00000358210	P81133		UPI000013D355				12/12		Pfam_domain:PF06621,PROSITE_profiles:PS51302,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF29											1						LOW	1	SNV	1		1	1										PASS		rs1180910746	.												T	2	4	70	100390787	100390787	G	T	1	0	0	0	0	0	0	0	1	14586	1335	47	2		2	SIM1	6	100390787	Silent	SNP	G	C3N-01030_TP	6980030	100390787	70415192	298	22475											
GRIK2	0	.	GRCh38	chr6	101889697	101889697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcgagagaaggtcatcGacttttccaagccctttatg	10	13	9	9	2	1	1	1	0	0	1	4	4	2	1	2	1	1	1	2	1	3	5			C3N-01030_TP	C3N-01030_NB	G	G																c.1582G>T	p.Asp528Tyr	p.D528Y	ENST00000421544	11/16	166	117	49	204	204	0	strelka-varscan-mutect	GRIK2,missense_variant,p.Asp528Tyr,ENST00000369138,NM_001166247.1;GRIK2,missense_variant,p.Asp528Tyr,ENST00000413795,NM_175768.3;GRIK2,missense_variant,p.Asp528Tyr,ENST00000421544,NM_021956.4;GRIK2,missense_variant,p.Asp490Tyr,ENST00000318991,;GRIK2,missense_variant,p.Asp490Tyr,ENST00000369137,;GRIK2,missense_variant,p.Asp490Tyr,ENST00000369134,;GRIK2,missense_variant,p.Asp127Tyr,ENST00000436862,;	T	ENST00000421544	Transcript	missense_variant	2072/4789	1582/2727	528/908	D/Y	Gac/Tac	COSM1236041,COSM1236042,COSM212929,COSM212930,COSM3715286	1		1	GRIK2	HGNC	HGNC:4580	protein_coding	YES	CCDS5048.1	ENSP00000397026	Q13002		UPI000012B617	NM_021956.4	deleterious(0)		11/16		Gene3D:3.40.190.10,Pfam_domain:PF10613,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,SMART_domains:SM00079,Superfamily_domains:SSF53850											1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1	1										PASS		rs1402876014	.												T	3	4	70	101889697	101889697	G	T	1	0	0	0	0	1	0	0	0	6656	1058	37	1		1	GRIK2	6	101889697	Missense_Mutation	SNP	G	C3N-01030_TP	1498910	101889697	68916282	299	22476											
MAN1A1	0	.	GRCh38	chr6	119189793	119189793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcgaagcaggtcaggtGgcccatcttgtgctccagga	7	7	13	14	2	2	0	1	0	1	0	3	2	3	1	4	4	2	2	4	4	1	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1417C>T	p.His473Tyr	p.H473Y	ENST00000368468	10/13	194	138	56	216	216	0	strelka-varscan-mutect	MAN1A1,missense_variant,p.His473Tyr,ENST00000368468,NM_005907.3;	A	ENST00000368468	Transcript	missense_variant	1859/5014	1417/1962	473/653	H/Y	Cac/Tac		1		-1	MAN1A1	HGNC	HGNC:6821	protein_coding	YES	CCDS5122.1	ENSP00000357453	P33908		UPI000013D632	NM_005907.3	deleterious(0)		10/13		hmmpanther:PTHR11742:SF31,hmmpanther:PTHR11742,Pfam_domain:PF01532,Gene3D:1.50.10.50,Superfamily_domains:SSF48225,Prints_domain:PR00747																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	70	119189793	119189793	G	A	1	0	0	0	0	1	0	0	0	9131	1348	47	3		3	MAN1A1	6	119189793	Missense_Mutation	SNP	G	C3N-01030_TP	17300096	119189793	51616186	300	22477											
ARHGAP18	0	.	GRCh38	chr6	129638543	129638543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaatgttgataaaaacaCaatgctttcctgtggatctc	12	13	7	9	1	2	1	1	1	1	0	4	2	3	2	1	1	2	2	1	1	5	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.403G>T	p.Val135Leu	p.V135L	ENST00000368149	3/15	178	123	55	215	214	1	strelka-varscan-mutect	ARHGAP18,missense_variant,p.Val135Leu,ENST00000368149,NM_033515.2;	A	ENST00000368149	Transcript	missense_variant	492/4462	403/1992	135/663	V/L	Gtg/Ttg		1		-1	ARHGAP18	HGNC	HGNC:21035	protein_coding	YES	CCDS34535.1	ENSP00000357131	Q8N392		UPI000020E208	NM_033515.2	tolerated(0.16)		3/15		hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	129638543	129638543	C	A	1	0	0	0	0	1	0	0	0	992	478	17	2		2	ARHGAP18	6	129638543	Missense_Mutation	SNP	C	C3N-01030_TP	10448750	129638543	41167436	301	22478											
SDK1	0	.	GRCh38	chr7	4130097	4130097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagcgcaccaaagacgatGgtaggtccagggttcgcgcc	9	6	15	11	4	0	1	0	0	0	1	2	3	1	2	3	4	1	3	3	4	2	2	rs768078718		C3N-01030_TP	C3N-01030_NB	G	G																c.4129G>T	p.Ala1377Ser	p.A1377S	ENST00000404826	27/45	71	61	10	54	54	0	strelka-varscan-mutect	SDK1,missense_variant,p.Ala1377Ser,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Ala1377Ser,ENST00000615806,;SDK1,missense_variant,p.Ala1377Ser,ENST00000389531,;SDK1,splice_region_variant,,ENST00000476701,;	T	ENST00000404826	Transcript	missense_variant,splice_region_variant	4268/10397	4129/6642	1377/2213	A/S	Gcc/Tcc	rs768078718	1		1	SDK1	HGNC	HGNC:19307	protein_coding	YES	CCDS34590.1	ENSP00000385899	Q7Z5N4		UPI0000DBEEC4	NM_152744.3	tolerated(0.11)		27/45		hmmpanther:PTHR10489:SF36,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		rs768078718	.												T	3	4	70	4130097	4130097	G	T	1	0	0	0	0	1	0	0	0	14243	1362	47	2		2	SDK1	7	4130097	Missense_Mutation	SNP	G	C3N-01030_TP		4130097	155215876	302	22479											
THSD7A	0	.	GRCh38	chr7	11460706	11460706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttcctgtgctccagggCtgtcttgttgcacgctccaa	5	12	10	14	1	1	0	0	0	1	0	4	0	4	0	4	1	3	5	4	1	1	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2561G>T	p.Ser854Ile	p.S854I	ENST00000423059	11/28	228	143	85	154	154	0	strelka-varscan-mutect	THSD7A,missense_variant,p.Ser854Ile,ENST00000423059,NM_015204.2;THSD7A,missense_variant,p.Ser854Ile,ENST00000617773,;AC004538.3,intron_variant,,ENST00000445839,;THSD7A,intron_variant,,ENST00000497575,;	A	ENST00000423059	Transcript	missense_variant	2813/10663	2561/4974	854/1657	S/I	aGc/aTc		1		-1	THSD7A	HGNC	HGNC:22207	protein_coding	YES	CCDS47543.1	ENSP00000406482	Q9UPZ6		UPI00006C0B74	NM_015204.2	tolerated(0.4)		11/28		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	11460706	11460706	C	A	1	0	0	0	0	1	0	0	0	16313	797	28	2		2	THSD7A	7	11460706	Missense_Mutation	SNP	C	C3N-01030_TP	7330609	11460706	147885267	303	22480											
AHR	0	.	GRCh38	chr7	17339541	17339541	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttctggtgaggttgacttCagagacattgacttaacgga	10	14	11	6	1	2	4	1	3	1	1	2	6	2	5	0	3	1	1	0	3	1	6	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1716C>G	p.Phe572Leu	p.F572L	ENST00000242057	10/11	153	111	42	147	147	0	strelka-varscan-mutect	AHR,missense_variant,p.Phe572Leu,ENST00000242057,NM_001621.4;RP11-507K12.1,missense_variant,p.Phe562Leu,ENST00000637807,;AHR,downstream_gene_variant,,ENST00000492120,;AHR,downstream_gene_variant,,ENST00000481944,;AHR,missense_variant,p.Phe572Leu,ENST00000463496,;	G	ENST00000242057	Transcript	missense_variant	2359/6276	1716/2547	572/848	F/L	ttC/ttG		1		1	AHR	HGNC	HGNC:348	protein_coding	YES	CCDS5366.1	ENSP00000242057	P35869	A0A024R9Z8	UPI0000125727	NM_001621.4	tolerated(0.9)		10/11		hmmpanther:PTHR10649:SF9,hmmpanther:PTHR10649																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	17339541	17339541	C	G	1	0	0	0	0	1	0	0	0	493	825	29	4		4	AHR	7	17339541	Missense_Mutation	SNP	C	C3N-01030_TP	5878835	17339541	142006432	304	22481											
ABCB5	0	.	GRCh38	chr7	20753404	20753404	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagcacagctttctggCggccagaaacaaagactagc	15	5	11	10	1	1	2	0	0	1	2	1	3	1	3	1	3	4	2	1	3	4	2	rs148088276		C3N-01030_TP	C3N-01030_NB	C	C																c.3474C>G	p.=	p.G1158G	ENST00000404938	27/28	171	146	25	164	164	0	strelka-varscan-mutect	ABCB5,synonymous_variant,p.=,ENST00000404938,NM_001163941.1;ABCB5,synonymous_variant,p.=,ENST00000258738,NM_178559.5;ABCB5,intron_variant,,ENST00000441315,;	G	ENST00000404938	Transcript	synonymous_variant	4126/5811	3474/3774	1158/1257	G	ggC/ggG	rs148088276	1		1	ABCB5	HGNC	HGNC:46	protein_coding	YES	CCDS55090.1	ENSP00000384881	Q2M3G0		UPI000173A253	NM_001163941.1			27/28		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_patterns:PS00211,PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF217,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs148088276	.												G	2	3	70	20753404	20753404	C	G	1	0	0	0	0	0	0	0	1	48	755	27	4		4	ABCB5	7	20753404	Silent	SNP	C	C3N-01030_TP	3413863	20753404	138592569	305	22482											
DNAH11	0	.	GRCh38	chr7	21599979	21599979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatgatcttgttgcctcctGagattgtgtttaaaccttcc	9	16	7	9	0	1	2	0	2	1	1	3	3	3	2	4	0	2	2	4	0	3	6	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2860G>A	p.Glu954Lys	p.E954K	ENST00000409508	15/82	168	153	15	155	155	0	strelka-varscan-mutect	DNAH11,missense_variant,p.Glu954Lys,ENST00000409508,NM_001277115.1;DNAH11,missense_variant,p.Glu954Lys,ENST00000328843,;DNAH11,missense_variant,p.Glu954Lys,ENST00000620169,;	A	ENST00000409508	Transcript	missense_variant	2891/14167	2860/13551	954/4516	E/K	Gag/Aag		1		1	DNAH11	HGNC	HGNC:2942	protein_coding	YES	CCDS64602.1	ENSP00000475939	Q96DT5		UPI0002B8CE70	NM_001277115.1	tolerated(0.1)		15/82		hmmpanther:PTHR10676:SF263,hmmpanther:PTHR10676																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	21599979	21599979	G	A	1	0	0	0	0	1	0	0	0	4413	1291	45	3		3	DNAH11	7	21599979	Missense_Mutation	SNP	G	C3N-01030_TP	846575	21599979	137745994	306	22483											
TRA2A	0	.	GRCh38	chr7	23521786	23521786	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgagatcctgacctgctctCcgattttacacgagcaggag	10	9	10	12	3	1	2	0	1	1	1	3	6	2	3	3	1	3	2	3	1	1	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.91G>T	p.Glu31Ter	p.E31*	ENST00000297071	2/8	282	236	46	246	246	0	strelka-varscan-mutect	TRA2A,stop_gained,p.Glu31Ter,ENST00000297071,NM_013293.4;TRA2A,5_prime_UTR_variant,,ENST00000392502,NM_001282759.1;TRA2A,5_prime_UTR_variant,,ENST00000538367,NM_001282757.1;TRA2A,5_prime_UTR_variant,,ENST00000621813,NM_001282758.1;TRA2A,non_coding_transcript_exon_variant,,ENST00000474586,;TRA2A,non_coding_transcript_exon_variant,,ENST00000490942,;TRA2A,missense_variant,p.Gly57Val,ENST00000448549,;TRA2A,non_coding_transcript_exon_variant,,ENST00000494255,;	A	ENST00000297071	Transcript	stop_gained	308/1845	91/849	31/282	E/*	Gag/Tag		1		-1	TRA2A	HGNC	HGNC:16645	protein_coding	YES	CCDS5383.1	ENSP00000297071	Q13595	Q549U1	UPI00001372AB	NM_013293.4			2/8		Low_complexity_(Seg):seg,hmmpanther:PTHR15241:SF3,hmmpanther:PTHR15241																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	23521786	23521786	C	A	1	0	0	0	0	0	1	0	0	16914	864	30	2		2	TRA2A	7	23521786	Nonsense_Mutation	SNP	C	C3N-01030_TP	1921807	23521786	135824187	307	22484											
HOXA10	0	.	GRCh38	chr7	27172165	27172165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggctgcgttttcaccttTggaattgcctggcatgtaag	6	15	12	8	1	1	0	1	0	0	0	1	1	1	1	2	3	2	5	2	3	2	6	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.967A>G	p.Lys323Glu	p.K323E	ENST00000283921	2/2	374	307	67	267	267	0	strelka-varscan-mutect	HOXA10,missense_variant,p.Lys323Glu,ENST00000283921,NM_018951.3;HOXA10,missense_variant,p.Gln201Arg,ENST00000613671,;HOXA10,missense_variant,p.Lys7Glu,ENST00000396344,;HOXA10-HOXA9,intron_variant,,ENST00000470747,;HOXA9,upstream_gene_variant,,ENST00000384852,;HOXA10-AS,downstream_gene_variant,,ENST00000519935,;HOXA10-AS,downstream_gene_variant,,ENST00000523790,;HOXA10-AS,downstream_gene_variant,,ENST00000519694,;HOXA10,non_coding_transcript_exon_variant,,ENST00000521421,;HOXA10,non_coding_transcript_exon_variant,,ENST00000524368,;HOXA10,non_coding_transcript_exon_variant,,ENST00000519593,;HOXA9,intron_variant,,ENST00000465941,;HOXA9,upstream_gene_variant,,ENST00000497089,;HOXA9,upstream_gene_variant,,ENST00000487384,;HOXA9,upstream_gene_variant,,ENST00000489695,;	C	ENST00000283921	Transcript	missense_variant	967/2541	967/1233	323/410	K/E	Aaa/Gaa		1		-1	HOXA10	HGNC	HGNC:5100	protein_coding	YES	CCDS5410.2	ENSP00000283921	P31260		UPI0000EE42DA	NM_018951.3	deleterious(0)		2/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF52																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	27172165	27172165	T	C	1	0	0	0	0	1	0	0	0	7183	1821	63	5		5	HOXA10	7	27172165	Missense_Mutation	SNP	T	C3N-01030_TP	3650379	27172165	132173808	308	22485											
PDE1C	0	.	GRCh38	chr7	31824946	31824946	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcttctcggtcatgtccgTaagcacagtgaaggtgggtt	9	12	12	8	2	3	1	1	1	2	0	5	1	4	1	1	3	1	3	1	3	3	3	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.1507A>C	p.Thr503Pro	p.T503P	ENST00000396193	14/19	141	117	24	157	157	0	strelka-varscan-mutect	PDE1C,missense_variant,p.Thr443Pro,ENST00000396184,NM_001322057.1,NM_001322056.1,NM_001322059.1,NM_005020.3;PDE1C,missense_variant,p.Thr503Pro,ENST00000396193,NM_001191058.2;PDE1C,missense_variant,p.Thr443Pro,ENST00000396191,NM_001191057.2;PDE1C,missense_variant,p.Thr443Pro,ENST00000321453,NM_001191059.2;PDE1C,missense_variant,p.Thr443Pro,ENST00000396182,NM_001191056.2;PDE1C,upstream_gene_variant,,ENST00000479980,;	G	ENST00000396193	Transcript	missense_variant	2101/5109	1507/2310	503/769	T/P	Acg/Ccg		1		-1	PDE1C	HGNC	HGNC:8776	protein_coding	YES	CCDS55100.1	ENSP00000379496		A0A0A0MS69	UPI00043788D1	NM_001191058.2	deleterious(0.03)		14/19		Gene3D:1.10.1300.10,Pfam_domain:PF00233,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF32,Superfamily_domains:SSF109604																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	70	31824946	31824946	T	G	1	0	0	0	0	1	0	0	0	11723	1638	57	5		5	PDE1C	7	31824946	Missense_Mutation	SNP	T	C3N-01030_TP	4652781	31824946	127521027	309	22486											
VPS41	0	.	GRCh38	chr7	38763485	38763485	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccaaaaattcatgtaaGatcatttcatagatgagtgg	14	13	7	7	0	4	3	3	1	1	2	5	3	4	3	1	1	0	1	1	1	4	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1392C>A	p.=	p.I464I	ENST00000310301	17/29	102	87	15	193	193	0	strelka-mutect	VPS41,synonymous_variant,p.=,ENST00000310301,NM_014396.3;VPS41,synonymous_variant,p.=,ENST00000395969,NM_080631.3;VPS41,non_coding_transcript_exon_variant,,ENST00000462429,;	T	ENST00000310301	Transcript	synonymous_variant	1447/5903	1392/2565	464/854	I	atC/atA		1		-1	VPS41	HGNC	HGNC:12713	protein_coding	YES	CCDS5457.1	ENSP00000309457	P49754		UPI000000DAB7	NM_014396.3			17/29		hmmpanther:PTHR12616,PIRSF_domain:PIRSF028921																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	38763485	38763485	G	T	1	0	0	0	0	0	0	0	1	17756	932	33	2		2	VPS41	7	38763485	Silent	SNP	G	C3N-01030_TP	6938539	38763485	120582488	310	22487											
CDK13	0	.	GRCh38	chr7	40094615	40094615	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcattctggtggtccacctCagccttctgccttttctgag	4	15	8	14	0	5	1	2	1	3	0	6	1	6	1	4	2	2	0	4	2	0	4	rs751226317		C3N-01030_TP	C3N-01030_NB	C	C																c.4174C>T	p.Gln1392Ter	p.Q1392*	ENST00000181839	14/14	100	81	19	107	107	0	strelka-varscan-mutect	CDK13,stop_gained,p.Gln1392Ter,ENST00000181839,NM_003718.4;CDK13,stop_gained,p.Gln1332Ter,ENST00000340829,NM_031267.3;CDK13,downstream_gene_variant,,ENST00000611390,;CDK13,non_coding_transcript_exon_variant,,ENST00000465643,;CDK13,downstream_gene_variant,,ENST00000478563,;	T	ENST00000181839	Transcript	stop_gained	4779/7298	4174/4539	1392/1512	Q/*	Cag/Tag	rs751226317	1		1	CDK13	HGNC	HGNC:1733	protein_coding	YES	CCDS5461.1	ENSP00000181839	Q14004	A0A024RA85	UPI000013C5E3	NM_003718.4			14/14																			HIGH	1	SNV	1			1										PASS		rs751226317	.												T	4	4	70	40094615	40094615	C	T	1	0	0	0	0	0	1	0	0	2833	827	29	3		3	CDK13	7	40094615	Nonsense_Mutation	SNP	C	C3N-01030_TP	1331130	40094615	119251358	311	22488											
INHBA	0	.	GRCh38	chr7	41689857	41689857	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggacccggacgtgcctgcTatatggctcgggcactcacc	7	7	13	14	3	1	0	1	0	0	0	2	3	1	2	3	4	2	3	3	4	2	2	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.1074A>T	p.=	p.I358I	ENST00000242208	3/3	128	99	29	128	128	0	strelka-varscan-mutect	INHBA,synonymous_variant,p.=,ENST00000242208,NM_002192.2;INHBA,synonymous_variant,p.=,ENST00000638023,;INHBA,synonymous_variant,p.=,ENST00000442711,;INHBA-AS1,upstream_gene_variant,,ENST00000415848,;INHBA-AS1,upstream_gene_variant,,ENST00000422822,;INHBA-AS1,upstream_gene_variant,,ENST00000420821,;INHBA,non_coding_transcript_exon_variant,,ENST00000464515,;INHBA,intron_variant,,ENST00000416150,;	A	ENST00000242208	Transcript	synonymous_variant	1321/6064	1074/1281	358/426	I	atA/atT		1		-1	INHBA	HGNC	HGNC:6066	protein_coding	YES	CCDS5464.1	ENSP00000242208	P08476	A4D1W7	UPI000012D421	NM_002192.2			3/3		PROSITE_profiles:PS51362,hmmpanther:PTHR11848:SF133,hmmpanther:PTHR11848,Pfam_domain:PF00019,Gene3D:2.10.90.10,SMART_domains:SM00204,Superfamily_domains:SSF57501																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	41689857	41689857	T	A	1	0	0	0	0	0	0	0	1	7643	1512	53	4		4	INHBA	7	41689857	Silent	SNP	T	C3N-01030_TP	1595242	41689857	117656116	312	22489											
CAMK2B	0	.	GRCh38	chr7	44228798	44228798	+	Frame_Shift_Del	DEL	G	G	-																															ctgggggccactacttacacGgggaggacagggggcctagg																								rs555460132		C3N-01030_TP	C3N-01030_NB	G	G																c.1466delC	p.Pro489ArgfsTer9	p.P489Rfs*9	ENST00000395749	19/24	26	18	8	19	19	0	sindel-varindel	CAMK2B,frameshift_variant,p.Pro489ArgfsTer9,ENST00000395749,NM_001220.4;CAMK2B,intron_variant,,ENST00000457475,NM_172079.2;CAMK2B,intron_variant,,ENST00000350811,NM_001293170.1;CAMK2B,intron_variant,,ENST00000440254,NM_172078.2;CAMK2B,intron_variant,,ENST00000358707,NM_172081.2;CAMK2B,intron_variant,,ENST00000258682,NM_172080.2;CAMK2B,intron_variant,,ENST00000353625,NM_172083.2;CAMK2B,intron_variant,,ENST00000347193,NM_172082.2;CAMK2B,intron_variant,,ENST00000395747,;CAMK2B,intron_variant,,ENST00000346990,NM_172084.2;CAMK2B,intron_variant,,ENST00000433930,;CAMK2B,upstream_gene_variant,,ENST00000425809,;CAMK2B,splice_region_variant,,ENST00000489429,;CAMK2B,intron_variant,,ENST00000497584,;CAMK2B,intron_variant,,ENST00000523845,;CAMK2B,intron_variant,,ENST00000353185,;	-	ENST00000395749	Transcript	frameshift_variant,splice_region_variant	1543/4447	1466/2001	489/666	P/X	cCg/cg	rs555460132,COSM20487	1		-1	CAMK2B	HGNC	HGNC:1461	protein_coding	YES	CCDS5483.1	ENSP00000379098	Q13554	A4D2J9	UPI0000164A3E	NM_001220.4			19/24		Low_complexity_(Seg):seg											0,1						HIGH	1	deletion	1		0,1	1										PASS		.	.												-	7	5	70	44228798	44228798	G	-	1	0	1	0	1	0	0	0	0	2291	1130	39	0		0	CAMK2B	7	44228798	Frame_Shift_Del	DEL	G	C3N-01030_TP	2538941	44228798	115117175	313	22490	475	2									
CAMK2B	0	.	GRCh38	chr7	44228801	44228801	+	Missense_Mutation	SNP	G	G	A																															ggggccactacttacacgggGaggacagggggcctaggaga																								rs574003384		C3N-01030_TP	C3N-01030_NB	G	G																c.1463C>T	p.Ser488Phe	p.S488F	ENST00000395749	19/24	31	21	10	20	20	0	strelka-varscan-mutect	CAMK2B,missense_variant,p.Ser488Phe,ENST00000395749,NM_001220.4;CAMK2B,intron_variant,,ENST00000457475,NM_172079.2;CAMK2B,intron_variant,,ENST00000350811,NM_001293170.1;CAMK2B,intron_variant,,ENST00000440254,NM_172078.2;CAMK2B,intron_variant,,ENST00000358707,NM_172081.2;CAMK2B,intron_variant,,ENST00000258682,NM_172080.2;CAMK2B,intron_variant,,ENST00000353625,NM_172083.2;CAMK2B,intron_variant,,ENST00000347193,NM_172082.2;CAMK2B,intron_variant,,ENST00000395747,;CAMK2B,intron_variant,,ENST00000346990,NM_172084.2;CAMK2B,intron_variant,,ENST00000433930,;CAMK2B,upstream_gene_variant,,ENST00000425809,;CAMK2B,non_coding_transcript_exon_variant,,ENST00000489429,;CAMK2B,intron_variant,,ENST00000497584,;CAMK2B,intron_variant,,ENST00000523845,;CAMK2B,intron_variant,,ENST00000353185,;	A	ENST00000395749	Transcript	missense_variant	1540/4447	1463/2001	488/666	S/F	tCc/tTc	rs574003384	1		-1	CAMK2B	HGNC	HGNC:1461	protein_coding	YES	CCDS5483.1	ENSP00000379098	Q13554	A4D2J9	UPI0000164A3E	NM_001220.4	tolerated_low_confidence(0.7)		19/24		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs574003384	.												A	3	1	70	44228801	44228801	G	A	1	0	0	0	0	1	0	0	0	2291	1188	41	3		3	CAMK2B	7	44228801	Missense_Mutation	SNP	G	C3N-01030_TP	3	44228801	115117172	314	22491	475	2									
ZNF716	0	.	GRCh38	chr7	57469709	57469709	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagaatgtggcaaagcCtttaactgctcctcaaccct	11	11	8	11	0	1	2	1	1	0	1	2	2	2	2	3	1	4	2	3	1	5	2	rs782437065		C3N-01030_TP	C3N-01030_NB	C	C																c.1248C>A	p.=	p.A416A	ENST00000420713	4/4	166	132	34	260	260	0	strelka-varscan-mutect	ZNF716,synonymous_variant,p.=,ENST00000420713,NM_001159279.1;	A	ENST00000420713	Transcript	synonymous_variant	1360/5197	1248/1488	416/495	A	gcC/gcA	rs782437065	1		1	ZNF716	HGNC	HGNC:32458	protein_coding	YES	CCDS55112.1	ENSP00000394248	A6NP11		UPI00004192FD	NM_001159279.1			4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	4			1										PASS		rs782437065	.												A	2	1	70	57469709	57469709	C	A	1	0	0	0	0	0	0	0	1	18694	668	24	2		2	ZNF716	7	57469709	Silent	SNP	C	C3N-01030_TP	13240908	57469709	101876264	315	22492											
ZNF716	0	.	GRCh38	chr7	57469842	57469842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataagaggattcatactggaGagaaaccctacaaatgtgaa	18	8	9	6	0	1	3	1	1	0	2	1	6	1	5	1	2	3	0	1	2	6	4			C3N-01030_TP	C3N-01030_NB	G	G																c.1381G>A	p.Glu461Lys	p.E461K	ENST00000420713	4/4	147	126	21	174	174	0	strelka-varscan-mutect	ZNF716,missense_variant,p.Glu461Lys,ENST00000420713,NM_001159279.1;	A	ENST00000420713	Transcript	missense_variant	1493/5197	1381/1488	461/495	E/K	Gag/Aag	COSM3923867,COSM3923868	1		1	ZNF716	HGNC	HGNC:32458	protein_coding	YES	CCDS55112.1	ENSP00000394248	A6NP11		UPI00004192FD	NM_001159279.1	deleterious(0.03)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,Superfamily_domains:SSF57667											1,1						MODERATE	1	SNV	4		1,1	1										PASS		rs1192695901	.												A	3	1	70	57469842	57469842	G	A	1	0	0	0	0	1	0	0	0	18694	943	33	3		3	ZNF716	7	57469842	Missense_Mutation	SNP	G	C3N-01030_TP	133	57469842	101876131	316	22493											
CALN1	0	.	GRCh38	chr7	72106264	72106264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaagccgttcccatccCggtccagaacccgaaaggcc	11	5	10	15	3	0	3	0	1	0	2	3	4	3	3	6	2	2	1	6	2	3	1	rs753498969		C3N-01030_TP	C3N-01030_NB	C	C																c.275G>T	p.Arg92Leu	p.R92L	ENST00000395275	4/7	114	72	42	124	124	0	strelka-varscan-mutect	CALN1,missense_variant,p.Arg92Leu,ENST00000395275,NM_031468.3;CALN1,missense_variant,p.Arg50Leu,ENST00000329008,NM_001017440.2;CALN1,missense_variant,p.Arg50Leu,ENST00000395276,;CALN1,missense_variant,p.Arg50Leu,ENST00000431984,;CALN1,missense_variant,p.Arg50Leu,ENST00000446128,;ABCF2P2,downstream_gene_variant,,ENST00000450549,;	A	ENST00000395275	Transcript	missense_variant	664/9459	275/786	92/261	R/L	cGg/cTg	rs753498969,COSM362543,COSM3882180,COSM3882181	1		-1	CALN1	HGNC	HGNC:13248	protein_coding	YES	CCDS47603.1	ENSP00000378690	Q9BXU9		UPI0000D4B903	NM_031468.3	deleterious(0)		4/7		PROSITE_profiles:PS50222,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF51,PROSITE_patterns:PS00018,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473											0,1,1,1						MODERATE	1	SNV	5		0,1,1,1	1										PASS		rs753498969	.												A	3	1	70	72106264	72106264	C	A	1	0	0	0	0	1	0	0	0	2282	652	23	1		1	CALN1	7	72106264	Missense_Mutation	SNP	C	C3N-01030_TP	14636422	72106264	87239709	317	22494											
POM121	0	.	GRCh38	chr7	72942704	72942704	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcagccagtccctgcAcactgccgtgccaacggcca	8	6	8	19	2	1	0	1	0	0	0	2	0	2	0	6	1	5	1	6	1	1	1	rs437678		C3N-01030_TP	C3N-01030_NB	A	A																c.1916A>C	p.His639Pro	p.H639P	ENST00000395270	14/16	17	10	7	18	18	0	strelka-varscan	POM121,missense_variant,p.His639Pro,ENST00000395270,NM_001257190.2;POM121,missense_variant,p.His639Pro,ENST00000627934,NM_172020.4;POM121,missense_variant,p.His639Pro,ENST00000358357,;POM121,missense_variant,p.His904Pro,ENST00000434423,;POM121,missense_variant,p.His639Pro,ENST00000446813,;NSUN5P2,downstream_gene_variant,,ENST00000602348,;	C	ENST00000395270	Transcript	missense_variant	2957/7011	1916/3000	639/999	H/P	cAc/cCc	rs437678	1		1	POM121	HGNC	HGNC:19702	protein_coding	YES	CCDS59059.1	ENSP00000378687	Q96HA1		UPI000013DA6B	NM_001257190.2	tolerated(1)		14/16		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	72942704	72942704	A	C	1	0	0	0	0	1	0	0	0	12350	159	6	5		5	POM121	7	72942704	Missense_Mutation	SNP	A	C3N-01030_TP	836440	72942704	86403269	318	22495											
BAZ1B	0	.	GRCh38	chr7	73477235	73477235	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatctgtagcttctcctcTgacgtcagctcaaaaaattc	12	12	6	11	1	5	2	2	1	3	1	7	2	5	2	1	0	2	3	1	0	5	3	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.2226A>T	p.=	p.S742S	ENST00000339594	7/20	214	157	57	260	260	0	strelka-varscan-mutect	BAZ1B,synonymous_variant,p.=,ENST00000339594,NM_032408.3;BAZ1B,synonymous_variant,p.=,ENST00000404251,;	A	ENST00000339594	Transcript	synonymous_variant	2565/6102	2226/4452	742/1483	S	tcA/tcT		1		-1	BAZ1B	HGNC	HGNC:961	protein_coding	YES	CCDS5549.1	ENSP00000342434	Q9UIG0		UPI0000126731	NM_032408.3			7/20		Low_complexity_(Seg):seg,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF145,Pfam_domain:PF15612																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	73477235	73477235	T	A	1	0	0	0	0	0	0	0	1	1475	1567	55	4		4	BAZ1B	7	73477235	Silent	SNP	T	C3N-01030_TP	534531	73477235	85868738	319	22496											
TBL2	0	.	GRCh38	chr7	73573461	73573461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgttggccagccagaCgatgaaggctctagagacag	10	6	13	12	2	1	3	0	1	1	2	2	5	2	3	4	2	1	2	4	2	2	2	rs373168324		C3N-01030_TP	C3N-01030_NB	C	C																c.457G>T	p.Val153Phe	p.V153F	ENST00000305632	4/7	86	59	27	113	113	0	strelka-varscan-mutect	TBL2,missense_variant,p.Val153Phe,ENST00000305632,NM_012453.2;TBL2,missense_variant,p.Val153Phe,ENST00000610724,;TBL2,missense_variant,p.Val117Phe,ENST00000432538,;TBL2,missense_variant,p.Val58Phe,ENST00000479892,;TBL2,non_coding_transcript_exon_variant,,ENST00000459913,;TBL2,non_coding_transcript_exon_variant,,ENST00000452475,;TBL2,non_coding_transcript_exon_variant,,ENST00000465279,;TBL2,non_coding_transcript_exon_variant,,ENST00000476136,;TBL2,downstream_gene_variant,,ENST00000468669,;TBL2,missense_variant,p.Arg145Leu,ENST00000450285,;TBL2,3_prime_UTR_variant,,ENST00000424598,;TBL2,3_prime_UTR_variant,,ENST00000417008,;TBL2,3_prime_UTR_variant,,ENST00000433464,;TBL2,3_prime_UTR_variant,,ENST00000426966,;TBL2,3_prime_UTR_variant,,ENST00000435792,;TBL2,3_prime_UTR_variant,,ENST00000437521,;TBL2,3_prime_UTR_variant,,ENST00000452125,;TBL2,upstream_gene_variant,,ENST00000488915,;TBL2,downstream_gene_variant,,ENST00000458466,;TBL2,downstream_gene_variant,,ENST00000469518,;TBL2,downstream_gene_variant,,ENST00000496056,;TBL2,upstream_gene_variant,,ENST00000495885,;	A	ENST00000305632	Transcript	missense_variant	699/3161	457/1344	153/447	V/F	Gtc/Ttc	rs373168324	1		-1	TBL2	HGNC	HGNC:11586	protein_coding	YES	CCDS5551.1	ENSP00000307260	Q9Y4P3		UPI0000048EF4	NM_012453.2	deleterious(0.01)		4/7		PROSITE_profiles:PS50294,hmmpanther:PTHR22847:SF358,hmmpanther:PTHR22847,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		rs373168324	.												A	3	1	70	73573461	73573461	C	A	1	0	0	0	0	1	0	0	0	16047	536	19	1		1	TBL2	7	73573461	Missense_Mutation	SNP	C	C3N-01030_TP	96226	73573461	85772512	320	22497											
NCF1	0	.	GRCh38	chr7	74779327	74779327	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaccgagtactgcagcacGctcatgagcctgcccaccaa	10	7	8	16	2	1	1	1	1	0	0	1	2	1	1	4	0	6	4	4	0	3	2	rs371075194		C3N-01030_TP	C3N-01030_NB	G	G																c.300G>T	p.=	p.T100T	ENST00000289473	4/11	293	212	81	269	269	0	strelka-varscan-mutect	NCF1,synonymous_variant,p.=,ENST00000289473,NM_000265.5;NCF1,synonymous_variant,p.=,ENST00000433458,;NCF1,synonymous_variant,p.=,ENST00000442021,;NCF1,non_coding_transcript_exon_variant,,ENST00000443956,;NCF1,non_coding_transcript_exon_variant,,ENST00000438106,;NCF1,missense_variant,p.Arg51Leu,ENST00000464878,;NCF1,non_coding_transcript_exon_variant,,ENST00000398421,;NCF1,non_coding_transcript_exon_variant,,ENST00000449343,;NCF1,intron_variant,,ENST00000455062,;NCF1,upstream_gene_variant,,ENST00000488197,;NCF1,upstream_gene_variant,,ENST00000486097,;	T	ENST00000289473	Transcript	synonymous_variant	370/1396	300/1173	100/390	T	acG/acT	rs371075194	1		1	NCF1	HGNC	HGNC:7660	protein_coding	YES	CCDS34657.1	ENSP00000289473	P14598		UPI000013E46E	NM_000265.5			4/11		PROSITE_profiles:PS50195,hmmpanther:PTHR15706,Gene3D:3.30.1520.10,Pfam_domain:PF00787,SMART_domains:SM00312,Superfamily_domains:SSF64268																	LOW	1	SNV	1			1										PASS		rs371075194	.												T	2	4	70	74779327	74779327	G	T	1	0	0	0	0	0	0	0	1	10234	1074	38	1		1	NCF1	7	74779327	Silent	SNP	G	C3N-01030_TP	1205866	74779327	84566646	321	22498											
PCLO	0	.	GRCh38	chr7	82760745	82760745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttgatcaccttttttTgggtagaaatattcatcaca	10	19	5	7	0	4	2	3	1	1	1	4	2	4	2	1	1	0	1	1	1	3	9	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.15182A>G	p.Gln5061Arg	p.Q5061R	ENST00000333891	24/25	68	51	17	107	107	0	strelka-varscan-mutect	PCLO,missense_variant,p.Gln5061Arg,ENST00000333891,NM_033026.5;	C	ENST00000333891	Transcript	missense_variant	15520/20329	15182/15429	5061/5142	Q/R	cAa/cGa		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	deleterious(0)		24/25		PROSITE_profiles:PS50004,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	70	82760745	82760745	T	C	1	0	0	0	0	1	0	0	0	11671	1812	63	5		5	PCLO	7	82760745	Missense_Mutation	SNP	T	C3N-01030_TP	7981418	82760745	76585228	322	22499											
STEAP2	0	.	GRCh38	chr7	90232409	90232409	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggatggaaacgagcttttGaggaagagtactacagattt	14	11	12	4	1	0	3	0	1	0	2	0	7	0	6	0	3	4	2	0	3	4	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1258G>C	p.Glu420Gln	p.E420Q	ENST00000394621	6/6	103	86	17	166	166	0	strelka-varscan-mutect	STEAP2,missense_variant,p.Glu420Gln,ENST00000394621,NM_001244944.1;STEAP2,missense_variant,p.Glu420Gln,ENST00000287908,NM_152999.3;STEAP2,missense_variant,p.Glu420Gln,ENST00000394622,NM_001040665.1;STEAP2,missense_variant,p.Glu420Gln,ENST00000394626,NM_001244945.1;STEAP2,missense_variant,p.Glu420Gln,ENST00000394629,NM_001040666.1;STEAP2,intron_variant,,ENST00000394632,NM_001244946.1;STEAP2,intron_variant,,ENST00000402625,;	C	ENST00000394621	Transcript	missense_variant	1764/7033	1258/1473	420/490	E/Q	Gag/Cag		1		1	STEAP2	HGNC	HGNC:17885	protein_coding	YES	CCDS5615.1	ENSP00000378119	Q8NFT2		UPI000013DEE0	NM_001244944.1	tolerated(0.5)		6/6		hmmpanther:PTHR14239:SF6,hmmpanther:PTHR14239																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	90232409	90232409	G	C	1	0	0	0	0	1	0	0	0	15655	1291	45	4		4	STEAP2	7	90232409	Missense_Mutation	SNP	G	C3N-01030_TP	7471664	90232409	69113564	323	22500											
BHLHA15	0	.	GRCh38	chr7	98212798	98212798	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggtggctgggggtgcGttgggggccacggaggccca	5	5	21	10	2	0	0	0	0	0	0	0	1	0	1	2	8	2	3	2	8	0	1	rs754943764		C3N-01030_TP	C3N-01030_NB	G	G																c.489G>T	p.=	p.A163A	ENST00000609256	2/2	210	174	36	121	121	0	strelka-varscan-mutect	BHLHA15,synonymous_variant,p.=,ENST00000609256,;BHLHA15,synonymous_variant,p.=,ENST00000314018,NM_177455.3;LMTK2,downstream_gene_variant,,ENST00000297293,NM_014916.3;TECPR1,downstream_gene_variant,,ENST00000447648,NM_015395.2;TECPR1,downstream_gene_variant,,ENST00000462511,;TECPR1,downstream_gene_variant,,ENST00000490842,;TECPR1,downstream_gene_variant,,ENST00000463402,;TECPR1,downstream_gene_variant,,ENST00000485716,;	T	ENST00000609256	Transcript	synonymous_variant	615/796	489/570	163/189	A	gcG/gcT	rs754943764	1		1	BHLHA15	HGNC	HGNC:22265	protein_coding	YES	CCDS5655.1	ENSP00000476312	Q7RTS1		UPI000013F6EA				2/2		hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF85																	LOW		SNV	3			1										PASS		rs754943764	.												T	2	4	70	98212798	98212798	G	T	1	0	0	0	0	0	0	0	1	1567	1132	40	1		1	BHLHA15	7	98212798	Silent	SNP	G	C3N-01030_TP	7980389	98212798	61133175	324	22501											
GAL3ST4	0	.	GRCh38	chr7	100160846	100160846	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagccaaagatggtgaCttgcggaaggctgatgaggt	12	7	16	6	1	0	4	0	3	0	1	0	5	0	5	1	5	2	2	1	5	3	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.543G>A	p.=	p.K181K	ENST00000360039	4/4	290	200	90	200	199	1	strelka-varscan-mutect	GAL3ST4,missense_variant,p.Ser80Asn,ENST00000423751,;GAL3ST4,missense_variant,p.Ser80Asn,ENST00000411994,;GAL3ST4,missense_variant,p.Ser80Asn,ENST00000498000,;GAL3ST4,synonymous_variant,p.=,ENST00000360039,NM_024637.4;GAL3ST4,synonymous_variant,p.=,ENST00000413800,;C7orf43,upstream_gene_variant,,ENST00000316937,NM_018275.4;C7orf43,upstream_gene_variant,,ENST00000456769,NM_001303470.1;C7orf43,upstream_gene_variant,,ENST00000457641,;LAMTOR4,downstream_gene_variant,,ENST00000490633,;C7orf43,upstream_gene_variant,,ENST00000584344,;GAL3ST4,non_coding_transcript_exon_variant,,ENST00000495882,;C7orf43,upstream_gene_variant,,ENST00000419037,;C7orf43,upstream_gene_variant,,ENST00000448720,;C7orf43,upstream_gene_variant,,ENST00000419841,;C7orf43,upstream_gene_variant,,ENST00000394035,;C7orf43,upstream_gene_variant,,ENST00000498638,;C7orf43,upstream_gene_variant,,ENST00000472061,;	T	ENST00000360039	Transcript	synonymous_variant	936/2537	543/1461	181/486	K	aaG/aaA		1		-1	GAL3ST4	HGNC	HGNC:24145	protein_coding	YES	CCDS5688.1	ENSP00000353142	Q96RP7		UPI0000070C68	NM_024637.4			4/4		hmmpanther:PTHR14647,hmmpanther:PTHR14647:SF57,Pfam_domain:PF06990,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	100160846	100160846	C	T	1	0	0	0	0	0	0	0	1	6068	565	20	3		3	GAL3ST4	7	100160846	Silent	SNP	C	C3N-01030_TP	1948048	100160846	59185127	325	22502											
SPDYE3	0	.	GRCh38	chr7	100319970	100319970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcactgggtgtgggcgcgaGatcgcgcccacctttcctag	6	8	14	13	4	0	1	0	0	0	1	2	2	1	1	3	2	1	1	3	2	1	2	rs781753979		C3N-01030_TP	C3N-01030_NB	G	G																c.1630G>A	p.Asp544Asn	p.D544N	ENST00000332397	10/11	490	413	77	369	369	0	strelka-varscan-mutect	SPDYE3,missense_variant,p.Asp544Asn,ENST00000332397,NM_001004351.4;SPDYE3,non_coding_transcript_exon_variant,,ENST00000380765,;PMS2P1,downstream_gene_variant,,ENST00000431037,;	A	ENST00000332397	Transcript	missense_variant	1814/3185	1630/1650	544/549	D/N	Gat/Aat	rs781753979,COSM164554,COSM3268132	1		1	SPDYE3	HGNC	HGNC:35462	protein_coding	YES	CCDS47658.2	ENSP00000329565	A6NKU9		UPI00004193B6	NM_001004351.4	deleterious(0.04)		10/11		Pfam_domain:PF11357,hmmpanther:PTHR31156,hmmpanther:PTHR31156:SF13											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs781753979	.												A	3	1	70	100319970	100319970	G	A	1	0	0	0	0	1	0	0	0	15379	942	33	3		3	SPDYE3	7	100319970	Missense_Mutation	SNP	G	C3N-01030_TP	159124	100319970	59026003	326	22503											
ZAN	0	.	GRCh38	chr7	100752342	100752342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacccccacagaaaaacccaCcatccccacagaaaaaccca	18	1	2	20	0	0	2	0	0	0	2	1	2	1	2	7	0	2	0	7	0	4	0	rs545019910		C3N-01030_TP	C3N-01030_NB	C	C																c.2237C>A	p.Thr746Asn	p.T746N	ENST00000613979	14/48	327	275	52	267	266	1	strelka-varscan-mutect	ZAN,missense_variant,p.Thr746Asn,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Thr746Asn,ENST00000618565,;ZAN,missense_variant,p.Thr746Asn,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Thr746Asn,ENST00000546292,;ZAN,missense_variant,p.Thr746Asn,ENST00000542585,;ZAN,missense_variant,p.Thr746Asn,ENST00000538115,;ZAN,missense_variant,p.Thr746Asn,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,;	A	ENST00000613979	Transcript	missense_variant	2402/8669	2237/8439	746/2812	T/N	aCc/aAc	rs545019910	1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.2	deleterious(0.01)		14/48		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs545019910	.												A	3	1	70	100752342	100752342	C	A	1	0	0	0	0	1	0	0	0	18074	507	18	2		2	ZAN	7	100752342	Missense_Mutation	SNP	C	C3N-01030_TP	432372	100752342	58593631	327	22504											
MUC12	0	.	GRCh38	chr7	101014068	101014068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcctatcccagagaaaacGgcacaggtgagcttgtgagg	12	6	13	10	1	0	3	0	2	0	1	1	4	1	3	2	3	3	2	2	3	3	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.15794G>T	p.Arg5265Leu	p.R5265L	ENST00000536621	9/12	41	20	21	37	37	0	strelka-varscan-mutect	MUC12,missense_variant,p.Arg5408Leu,ENST00000379442,;MUC12,missense_variant,p.Arg5265Leu,ENST00000536621,NM_001164462.1;RP11-395B7.4,downstream_gene_variant,,ENST00000441882,;RP11-395B7.4,downstream_gene_variant,,ENST00000448513,;MUC12,upstream_gene_variant,,ENST00000467414,;MUC12,upstream_gene_variant,,ENST00000473098,;MUC12,missense_variant,p.Arg82Leu,ENST00000305119,;MUC12,upstream_gene_variant,,ENST00000474482,;	T	ENST00000536621	Transcript	missense_variant	15794/16321	15794/16008	5265/5335	R/L	cGg/cTg		1		1	MUC12	HGNC	HGNC:7510	protein_coding	YES	CCDS55139.1	ENSP00000441929	Q9UKN1		UPI0001B25898	NM_001164462.1	tolerated(0.52)		9/12																			MODERATE		SNV	5			1										PASS		rs1041951745	.												T	3	4	70	101014068	101014068	G	T	1	0	0	0	0	1	0	0	0	9969	1116	39	1		1	MUC12	7	101014068	Missense_Mutation	SNP	G	C3N-01030_TP	261726	101014068	58331905	328	22505											
MUC12	0	.	GRCh38	chr7	101015684	101015684	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttccagaagacggccatCtgggaaggtacctctagtta	11	10	10	10	1	3	2	0	0	3	2	4	3	4	3	3	3	1	2	3	3	5	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.15870C>G	p.Ile5290Met	p.I5290M	ENST00000536621	10/12	249	209	40	179	179	0	strelka-varscan-mutect	MUC12,missense_variant,p.Ile5433Met,ENST00000379442,;MUC12,missense_variant,p.Ile5290Met,ENST00000536621,NM_001164462.1;MUC17,upstream_gene_variant,,ENST00000306151,NM_001040105.1;RP11-395B7.4,intron_variant,,ENST00000441882,;RP11-395B7.4,intron_variant,,ENST00000448513,;MUC12,upstream_gene_variant,,ENST00000467414,;MUC12,upstream_gene_variant,,ENST00000473098,;MUC12,intron_variant,,ENST00000305119,;MUC17,upstream_gene_variant,,ENST00000379439,;MUC12,upstream_gene_variant,,ENST00000474482,;	G	ENST00000536621	Transcript	missense_variant	15870/16321	15870/16008	5290/5335	I/M	atC/atG		1		1	MUC12	HGNC	HGNC:7510	protein_coding	YES	CCDS55139.1	ENSP00000441929	Q9UKN1		UPI0001B25898	NM_001164462.1	deleterious(0.01)		10/12																			MODERATE		SNV	5			1										PASS		rs1227427844	.												G	3	3	70	101015684	101015684	C	G	1	0	0	0	0	1	0	0	0	9969	903	32	4		4	MUC12	7	101015684	Missense_Mutation	SNP	C	C3N-01030_TP	1616	101015684	58330289	329	22506											
MUC17	0	.	GRCh38	chr7	101039080	101039080	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctactgaaatcagttcatCtgctacatccgctgaaggta	11	13	7	10	1	4	2	2	2	2	0	5	2	5	2	1	1	3	4	1	1	5	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.7664C>A	p.Ser2555Tyr	p.S2555Y	ENST00000306151	3/13	136	104	32	112	112	0	strelka-varscan-mutect	MUC17,missense_variant,p.Ser2555Tyr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ser2555Tyr,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	A	ENST00000306151	Transcript	missense_variant	7728/14247	7664/13482	2555/4493	S/Y	tCt/tAt		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	deleterious(0)		3/13		Low_complexity_(Seg):seg,hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	101039080	101039080	C	A	1	0	0	0	0	1	0	0	0	9973	913	32	2		2	MUC17	7	101039080	Missense_Mutation	SNP	C	C3N-01030_TP	23396	101039080	58306893	330	22507											
RELN	0	.	GRCh38	chr7	103553552	103553552	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaacaaacaccatagctGaatcttcttcactgttacac	14	12	4	11	0	3	2	1	2	2	0	3	2	3	2	1	0	4	2	1	0	5	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.5981C>A	p.Ser1994Ter	p.S1994*	ENST00000428762	40/65	320	269	51	335	335	0	strelka-varscan-mutect	RELN,stop_gained,p.Ser1994Ter,ENST00000424685,;RELN,stop_gained,p.Ser1994Ter,ENST00000428762,NM_005045.3;RELN,stop_gained,p.Ser1994Ter,ENST00000343529,NM_173054.2;	T	ENST00000428762	Transcript	stop_gained	6141/11571	5981/10383	1994/3460	S/*	tCa/tAa		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3			40/65		hmmpanther:PTHR11841																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	70	103553552	103553552	G	T	1	0	0	0	0	0	1	0	0	13390	1294	45	2		2	RELN	7	103553552	Nonsense_Mutation	SNP	G	C3N-01030_TP	2514472	103553552	55792421	331	22508											
KMT2E	0	.	GRCh38	chr7	105105893	105105893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctctggaagaagaaaattCagcaattttacatagattta	17	12	7	5	0	2	3	1	0	1	3	2	4	2	4	0	1	3	2	0	1	8	6	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2486C>T	p.Ser829Leu	p.S829L	ENST00000311117	19/27	133	119	14	114	114	0	strelka-mutect	KMT2E,missense_variant,p.Ser829Leu,ENST00000311117,NM_182931.2;KMT2E,missense_variant,p.Ser829Leu,ENST00000257745,NM_018682.3;KMT2E,downstream_gene_variant,,ENST00000622386,;KMT2E,downstream_gene_variant,,ENST00000479838,;KMT2E,upstream_gene_variant,,ENST00000473063,;CTB-152G17.6,upstream_gene_variant,,ENST00000607968,;SRPK2,downstream_gene_variant,,ENST00000493638,;KMT2E,missense_variant,p.Ser829Leu,ENST00000334884,;KMT2E,upstream_gene_variant,,ENST00000478079,;	T	ENST00000311117	Transcript	missense_variant	3031/6874	2486/5577	829/1858	S/L	tCa/tTa		1		1	KMT2E	HGNC	HGNC:18541	protein_coding	YES	CCDS34723.1	ENSP00000312379	Q8IZD2		UPI0000074133	NM_182931.2	deleterious_low_confidence(0.02)		19/27																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	105105893	105105893	C	T	1	0	0	0	0	1	0	0	0	8299	838	29	3		3	KMT2E	7	105105893	Missense_Mutation	SNP	C	C3N-01030_TP	1552341	105105893	54240080	332	22509											
LAMB1	0	.	GRCh38	chr7	107986240	107986240	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattatgtcatcgactttttTcatggggccagttgaaatgc	10	15	9	7	1	2	1	2	1	0	0	3	2	2	1	1	2	1	1	1	2	3	5	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.547A>G	p.Lys183Glu	p.K183E	ENST00000222399	6/34	156	90	66	148	148	0	strelka-varscan-mutect	LAMB1,missense_variant,p.Lys207Glu,ENST00000393561,;LAMB1,missense_variant,p.Lys183Glu,ENST00000222399,NM_002291.2;LAMB1,missense_variant,p.Lys183Glu,ENST00000393560,;	C	ENST00000222399	Transcript	missense_variant	778/5725	547/5361	183/1786	K/E	Aaa/Gaa		1		-1	LAMB1	HGNC	HGNC:6486	protein_coding	YES	CCDS5750.1	ENSP00000222399	P07942		UPI00001AE63F	NM_002291.2	tolerated(0.1)		6/34		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF233,SMART_domains:SM00136																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	107986240	107986240	T	C	1	0	0	0	0	1	0	0	0	8514	1792	62	5		5	LAMB1	7	107986240	Missense_Mutation	SNP	T	C3N-01030_TP	2880347	107986240	51359733	333	22510											
SLC13A1	0	.	GRCh38	chr7	123115622	123115622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaagcataaccacagcaaCaccaacaatgttgacaccaa	18	4	5	14	0	0	1	0	1	0	0	0	1	0	1	4	0	5	3	4	0	6	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1684G>T	p.Val562Phe	p.V562F	ENST00000194130	15/15	215	141	74	166	166	0	strelka-varscan-mutect	SLC13A1,missense_variant,p.Val562Phe,ENST00000194130,NM_022444.3;SLC13A1,3_prime_UTR_variant,,ENST00000539873,;SLC13A1,3_prime_UTR_variant,,ENST00000427975,;SLC13A1,3_prime_UTR_variant,,ENST00000439260,;	A	ENST00000194130	Transcript	missense_variant	1724/3815	1684/1788	562/595	V/F	Gtt/Ttt		1		-1	SLC13A1	HGNC	HGNC:10916	protein_coding	YES	CCDS5786.1	ENSP00000194130	Q9BZW2	A4D0X1	UPI0000049F9D	NM_022444.3	deleterious(0)		15/15		Transmembrane_helices:TMhelix,hmmpanther:PTHR10283:SF65,hmmpanther:PTHR10283,Pfam_domain:PF00939																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	123115622	123115622	C	A	1	0	0	0	0	1	0	0	0	14656	478	17	2		2	SLC13A1	7	123115622	Missense_Mutation	SNP	C	C3N-01030_TP	15129382	123115622	36230351	334	22511											
SLC13A1	0	.	GRCh38	chr7	123123183	123123183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatggctatatcccagggCatgaatgactggaattcttt	12	12	10	7	0	1	3	0	2	1	1	2	4	2	4	1	3	0	2	1	3	5	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1293G>T	p.Met431Ile	p.M431I	ENST00000194130	12/15	256	215	41	285	284	1	strelka-varscan-mutect	SLC13A1,missense_variant,p.Met431Ile,ENST00000194130,NM_022444.3;SLC13A1,3_prime_UTR_variant,,ENST00000539873,;SLC13A1,3_prime_UTR_variant,,ENST00000427975,;SLC13A1,3_prime_UTR_variant,,ENST00000439260,;	A	ENST00000194130	Transcript	missense_variant	1333/3815	1293/1788	431/595	M/I	atG/atT		1		-1	SLC13A1	HGNC	HGNC:10916	protein_coding	YES	CCDS5786.1	ENSP00000194130	Q9BZW2	A4D0X1	UPI0000049F9D	NM_022444.3	deleterious(0.02)		12/15		hmmpanther:PTHR10283:SF65,hmmpanther:PTHR10283,Pfam_domain:PF00939																	MODERATE	1	SNV	1			1										PASS		rs1421250230	.												A	3	1	70	123123183	123123183	C	A	1	0	0	0	0	1	0	0	0	14656	710	25	2		2	SLC13A1	7	123123183	Missense_Mutation	SNP	C	C3N-01030_TP	7561	123123183	36222790	335	22512											
WASL	0	.	GRCh38	chr7	123692615	123692615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaacacagatggaggtggtGgtggaggccctgaaggtgct	9	7	17	8	0	0	2	0	1	0	1	0	4	0	4	2	7	2	1	2	7	2	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1079C>A	p.Pro360Gln	p.P360Q	ENST00000223023	9/11	79	63	16	56	56	0	strelka-varscan-mutect	WASL,missense_variant,p.Pro360Gln,ENST00000223023,NM_003941.3;	T	ENST00000223023	Transcript	missense_variant	1412/4435	1079/1518	360/505	P/Q	cCa/cAa		1		-1	WASL	HGNC	HGNC:12735	protein_coding	YES	CCDS34743.1	ENSP00000223023	O00401		UPI000013C821	NM_003941.3	tolerated(0.35)		9/11		hmmpanther:PTHR23202,hmmpanther:PTHR23202:SF33,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	123692615	123692615	G	T	1	0	0	0	0	1	0	0	0	17816	1348	47	2		2	WASL	7	123692615	Missense_Mutation	SNP	G	C3N-01030_TP	569432	123692615	35653358	336	22513											
GRM8	0	.	GRCh38	chr7	126769948	126769948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaggccaatgtatccaGggcagagatctttgtgcata	13	9	11	8	0	1	1	0	0	1	1	2	3	2	1	2	2	1	3	2	2	4	3	rs376815449		C3N-01030_TP	C3N-01030_NB	G	G																c.1274C>A	p.Pro425His	p.P425H	ENST00000339582	7/11	248	209	39	217	217	0	strelka-varscan-mutect	GRM8,missense_variant,p.Pro425His,ENST00000339582,NM_000845.2;GRM8,missense_variant,p.Pro425His,ENST00000358373,NM_001127323.1;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,non_coding_transcript_exon_variant,,ENST00000448250,;GRM8,missense_variant,p.Pro425His,ENST00000472701,;GRM8,missense_variant,p.Pro425His,ENST00000341617,;	T	ENST00000339582	Transcript	missense_variant	2083/4057	1274/2727	425/908	P/H	cCt/cAt	rs376815449,COSM325455,COSM325456	1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2	deleterious(0.01)		7/11		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Superfamily_domains:SSF53822											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs376815449	.												T	3	4	70	126769948	126769948	G	T	1	0	0	0	0	1	0	0	0	6685	1000	35	2		2	GRM8	7	126769948	Missense_Mutation	SNP	G	C3N-01030_TP	3077333	126769948	32576025	337	22514											
PAX4	0	.	GRCh38	chr7	127614515	127614515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtgcacggtagtccctGgtcctcctgtaatgcccgca	5	10	11	15	3	0	0	0	0	0	0	3	0	3	0	5	2	2	4	5	2	2	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.379C>A	p.Gln127Lys	p.Q127K	ENST00000341640	3/9	567	464	103	356	356	0	strelka-varscan-mutect	PAX4,missense_variant,p.Gln127Lys,ENST00000341640,NM_006193.2;PAX4,missense_variant,p.Gln125Lys,ENST00000463946,;PAX4,missense_variant,p.Gln125Lys,ENST00000611453,;PAX4,missense_variant,p.Gln127Lys,ENST00000378740,;PAX4,missense_variant,p.Gln135Lys,ENST00000338516,;PAX4,missense_variant,p.Gln125Lys,ENST00000483494,;PAX4,non_coding_transcript_exon_variant,,ENST00000477423,;	T	ENST00000341640	Transcript	missense_variant	585/2010	379/1032	127/343	Q/K	Cag/Aag		1		-1	PAX4	HGNC	HGNC:8618	protein_coding	YES	CCDS5797.1	ENSP00000339906	O43316		UPI000013C824	NM_006193.2	tolerated(0.37)		3/9		hmmpanther:PTHR24329:SF14,hmmpanther:PTHR24329																	MODERATE	1	SNV	1			1										PASS		rs886061969	.												T	3	4	70	127614515	127614515	G	T	1	0	0	0	0	1	0	0	0	11566	1357	47	2		2	PAX4	7	127614515	Missense_Mutation	SNP	G	C3N-01030_TP	844567	127614515	31731458	338	22515											
NRF1	0	.	GRCh38	chr7	129710464	129710464	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgcctttgaagatcagCaaacgcaaacacaggccaca	15	7	8	11	1	1	2	1	1	0	1	1	2	1	2	2	1	4	3	2	1	4	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.856C>G	p.Gln286Glu	p.Q286E	ENST00000353868	7/12	411	260	151	313	313	0	strelka-varscan-mutect	NRF1,missense_variant,p.Gln286Glu,ENST00000353868,;NRF1,missense_variant,p.Gln286Glu,ENST00000393232,NM_005011.4,NM_001293164.1;NRF1,missense_variant,p.Gln286Glu,ENST00000393230,NM_001040110.1;NRF1,missense_variant,p.Gln286Glu,ENST00000311967,NM_001293163.1;NRF1,missense_variant,p.Gln286Glu,ENST00000223190,;NRF1,downstream_gene_variant,,ENST00000454688,;	G	ENST00000353868	Transcript	missense_variant	956/3568	856/1569	286/522	Q/E	Caa/Gaa		1		1	NRF1	HGNC	HGNC:7996	protein_coding	YES	CCDS78273.1	ENSP00000342351	Q16656	A0A024R774	UPI0000072ED3		tolerated(0.77)		7/12		Low_complexity_(Seg):seg,hmmpanther:PTHR20338,Gene3D:3.40.50.740																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	70	129710464	129710464	C	G	1	0	0	0	0	1	0	0	0	10704	711	25	4		4	NRF1	7	129710464	Missense_Mutation	SNP	C	C3N-01030_TP	2095949	129710464	29635509	339	22516											
PLXNA4	0	.	GRCh38	chr7	132508429	132508429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acacttggggttgtcctcgtCcggccctgtctcatgcgtca	4	12	11	14	3	2	0	2	0	1	0	6	0	4	0	3	3	1	1	3	3	0	2			C3N-01030_TP	C3N-01030_NB	C	C																c.265G>C	p.Asp89His	p.D89H	ENST00000359827	2/32	362	285	77	224	224	0	strelka-varscan-mutect	PLXNA4,missense_variant,p.Asp89His,ENST00000359827,;PLXNA4,missense_variant,p.Asp89His,ENST00000321063,NM_020911.1;PLXNA4,missense_variant,p.Asp89His,ENST00000423507,NM_001105543.1;PLXNA4,missense_variant,p.Asp89His,ENST00000378539,NM_181775.3;	G	ENST00000359827	Transcript	missense_variant	1228/13786	265/5685	89/1894	D/H	Gac/Cac	COSM1150567,COSM72232,COSM744481,COSM744482,COSM744483	1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B		tolerated(0.13)		2/32		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,SMART_domains:SM00630,Superfamily_domains:SSF101912											1,1,1,1,1						MODERATE	1	SNV	5		1,1,1,1,1	1										PASS		rs1355011226	.												G	3	3	70	132508429	132508429	C	G	1	0	0	0	0	1	0	0	0	12228	855	30	4		4	PLXNA4	7	132508429	Missense_Mutation	SNP	C	C3N-01030_TP	2797965	132508429	26837544	340	22517											
FAM180A	0	.	GRCh38	chr7	135734045	135734045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggaagaggctaacgaggGactgcgcccagatgtccttc	9	7	13	12	2	0	2	0	0	0	2	2	5	1	4	3	3	2	1	3	3	2	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.452C>A	p.Ser151Tyr	p.S151Y	ENST00000338588	3/4	197	163	34	124	124	0	strelka-varscan-mutect	FAM180A,missense_variant,p.Ser151Tyr,ENST00000338588,NM_205855.3;FAM180A,missense_variant,p.Ser151Tyr,ENST00000415751,;SLC13A4,upstream_gene_variant,,ENST00000378428,;SLC13A4,upstream_gene_variant,,ENST00000422620,;FAM180A,intron_variant,,ENST00000435869,;FAM180A,missense_variant,p.Ser151Tyr,ENST00000444083,;	T	ENST00000338588	Transcript	missense_variant	718/1800	452/522	151/173	S/Y	tCc/tAc		1		-1	FAM180A	HGNC	HGNC:33773	protein_coding	YES	CCDS5841.1	ENSP00000342336	Q6UWF9		UPI0000035A01	NM_205855.3	deleterious(0)		3/4		hmmpanther:PTHR34034,hmmpanther:PTHR34034:SF2,Pfam_domain:PF15173																	MODERATE	1	SNV	1			1										PASS		rs1412266948	.												T	3	4	70	135734045	135734045	G	T	1	0	0	0	0	1	0	0	0	5352	1174	41	2		2	FAM180A	7	135734045	Missense_Mutation	SNP	G	C3N-01030_TP	3225616	135734045	23611928	341	22518											
FAM180A	0	.	GRCh38	chr7	135737101	135737101	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcccctctgcctacctCgtagagcagctccacctcct	6	11	6	18	1	1	1	0	0	1	1	5	1	4	1	7	0	4	4	7	0	2	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.175G>T	p.Glu59Ter	p.E59*	ENST00000338588	2/4	231	201	30	174	173	1	strelka-varscan-mutect	FAM180A,stop_gained,p.Glu59Ter,ENST00000338588,NM_205855.3;FAM180A,stop_gained,p.Glu59Ter,ENST00000415751,;FAM180A,splice_region_variant,,ENST00000435869,;FAM180A,stop_gained,p.Glu59Ter,ENST00000444083,;	A	ENST00000338588	Transcript	stop_gained,splice_region_variant	441/1800	175/522	59/173	E/*	Gag/Tag		1		-1	FAM180A	HGNC	HGNC:33773	protein_coding	YES	CCDS5841.1	ENSP00000342336	Q6UWF9		UPI0000035A01	NM_205855.3			2/4		Low_complexity_(Seg):seg,hmmpanther:PTHR34034,hmmpanther:PTHR34034:SF2,Pfam_domain:PF15173																	HIGH	1	SNV	1			1										PASS		rs890848627	.												A	4	1	70	135737101	135737101	C	A	1	0	0	0	0	0	1	0	0	5352	898	31	1		1	FAM180A	7	135737101	Nonsense_Mutation	SNP	C	C3N-01030_TP	3056	135737101	23608872	342	22519											
SVOPL	0	.	GRCh38	chr7	138628242	138628242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtagcaggggctctggctctCccctgagtcccccccagtca	5	8	11	17	0	3	1	1	1	2	0	5	1	4	1	5	3	1	4	5	3	1	1	rs200942722		C3N-01030_TP	C3N-01030_NB	C	C																c.985G>A	p.Glu329Lys	p.E329K	ENST00000419765	10/15	508	435	73	323	323	0	strelka-varscan-mutect	SVOPL,missense_variant,p.Glu209Lys,ENST00000421622,;SVOPL,missense_variant,p.Glu329Lys,ENST00000419765,NM_001139456.1;SVOPL,missense_variant,p.Glu177Lys,ENST00000436657,NM_174959.3;SVOPL,missense_variant,p.Glu177Lys,ENST00000288513,;SNORA40,upstream_gene_variant,,ENST00000516379,;SVOPL,upstream_gene_variant,,ENST00000463557,;SVOPL,missense_variant,p.Glu82Lys,ENST00000441685,;SVOPL,upstream_gene_variant,,ENST00000478865,;	T	ENST00000419765	Transcript	missense_variant	1019/1523	985/1479	329/492	E/K	Gag/Aag	rs200942722,COSM5539898,COSM5539899	1		-1	SVOPL	HGNC	HGNC:27034	protein_coding	YES	CCDS47721.1	ENSP00000405482	Q8N434		UPI0001565476	NM_001139456.1	tolerated(0.3)		10/15		Gene3D:1.20.1250.20,PROSITE_profiles:PS50850,Superfamily_domains:SSF103473											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs200942722	.												T	3	4	70	138628242	138628242	C	T	1	0	0	0	0	1	0	0	0	15809	864	30	3		3	SVOPL	7	138628242	Missense_Mutation	SNP	C	C3N-01030_TP	2891141	138628242	20717731	343	22520											
PRSS37	0	.	GRCh38	chr7	141837189	141837189	+	Frame_Shift_Del	DEL	G	G	-																															ttttccttgttctgttttttGgcattctcgatcagacatca																								novel		C3N-01030_TP	C3N-01030_NB	G	G																c.490delC	p.Gln164LysfsTer15	p.Q164Kfs*15	ENST00000350549	4/5	94	57	37	105	105	0	sindel-varindel-pindel	PRSS37,frameshift_variant,p.Gln164LysfsTer15,ENST00000350549,NM_001008270.2,NM_001171951.1;PRSS37,frameshift_variant,p.Gln164LysfsTer15,ENST00000438520,;PRSS37,3_prime_UTR_variant,,ENST00000419085,;PRSS37,3_prime_UTR_variant,,ENST00000452758,;	-	ENST00000350549	Transcript	frameshift_variant	862/1189	490/708	164/235	Q/X	Caa/aa		1		-1	PRSS37	HGNC	HGNC:29211	protein_coding	YES	CCDS34764.1	ENSP00000297767	A4D1T9		UPI000004223A	NM_001008270.2,NM_001171951.1			4/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF244,hmmpanther:PTHR24256,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	70	141837189	141837189	G	-	1	0	1	0	1	0	0	0	0	12773	1357	47	0		0	PRSS37	7	141837189	Frame_Shift_Del	DEL	G	C3N-01030_TP	3208947	141837189	17508784	344	22521											
FAM131B	0	.	GRCh38	chr7	143356676	143356676	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggaaagtgactccaggtcCcggcatcccgcatcctcttc	7	8	11	15	2	1	1	0	1	1	0	6	2	5	2	4	4	0	2	4	4	1	1	rs774486508		C3N-01030_TP	C3N-01030_NB	C	C																c.957G>C	p.=	p.R319R	ENST00000443739	7/7	428	354	74	247	247	0	strelka-varscan-mutect	FAM131B,synonymous_variant,p.=,ENST00000409408,;FAM131B,synonymous_variant,p.=,ENST00000443739,NM_001031690.2,NM_001278297.1;FAM131B,synonymous_variant,p.=,ENST00000409346,;FAM131B,synonymous_variant,p.=,ENST00000409578,;FAM131B,synonymous_variant,p.=,ENST00000409222,NM_014690.4;CLCN1,downstream_gene_variant,,ENST00000343257,NM_000083.2;FAM131B,3_prime_UTR_variant,,ENST00000410085,;FAM131B,downstream_gene_variant,,ENST00000519161,;FAM131B,downstream_gene_variant,,ENST00000521347,;FAM131B,downstream_gene_variant,,ENST00000519279,;	G	ENST00000443739	Transcript	synonymous_variant	1106/4382	957/1083	319/360	R	cgG/cgC	rs774486508	1		-1	FAM131B	HGNC	HGNC:22202	protein_coding	YES	CCDS47734.1	ENSP00000410603	Q86XD5		UPI0001633639	NM_001031690.2,NM_001278297.1			7/7		hmmpanther:PTHR15736,hmmpanther:PTHR15736:SF9,Pfam_domain:PF15010																	LOW	1	SNV	1			1										PASS		rs774486508	.												G	2	3	70	143356676	143356676	C	G	1	0	0	0	0	0	0	0	1	5290	610	22	4		4	FAM131B	7	143356676	Silent	SNP	C	C3N-01030_TP	1519487	143356676	15989297	345	22522											
EZH2	0	.	GRCh38	chr7	148815513	148815513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagatgctaaccctttttCagctgtatctttctgcagtg	9	15	8	9	0	3	1	1	0	2	1	3	2	3	1	1	0	4	4	1	0	3	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1539G>A	p.=	p.L513L	ENST00000320356	13/20	230	195	35	188	188	0	strelka-varscan-mutect	EZH2,synonymous_variant,p.=,ENST00000320356,NM_004456.4;EZH2,synonymous_variant,p.=,ENST00000460911,NM_001203247.1;EZH2,synonymous_variant,p.=,ENST00000476773,NM_001203249.1;EZH2,synonymous_variant,p.=,ENST00000478654,;EZH2,synonymous_variant,p.=,ENST00000350995,NM_152998.2;EZH2,synonymous_variant,p.=,ENST00000483967,NM_001203248.1;EZH2,3_prime_UTR_variant,,ENST00000492143,;EZH2,downstream_gene_variant,,ENST00000498186,;EZH2,downstream_gene_variant,,ENST00000483012,;EZH2,upstream_gene_variant,,ENST00000469631,;	T	ENST00000320356	Transcript	synonymous_variant	1661/2639	1539/2256	513/751	L	ctG/ctA		1		-1	EZH2	HGNC	HGNC:3527	protein_coding	YES	CCDS5891.1	ENSP00000320147	Q15910	A0A090N8E9	UPI000006D77C	NM_004456.4			13/20		PROSITE_profiles:PS51633,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF287,Gene3D:2.170.270.10																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	148815513	148815513	C	T	1	0	0	0	0	0	0	0	1	5202	813	29	3		3	EZH2	7	148815513	Silent	SNP	C	C3N-01030_TP	5458837	148815513	10530460	346	22523											
PDIA4	0	.	GRCh38	chr7	149004042	149004042	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggccaggctgttgtacaCgggctctagctgcttgcagt	5	12	13	11	1	1	0	0	0	1	0	1	0	1	0	1	3	4	7	1	3	2	5	rs374338308		C3N-01030_TP	C3N-01030_NB	C	C																c.1690G>T	p.Val564Leu	p.V564L	ENST00000286091	10/10	234	167	67	148	147	1	strelka-varscan-mutect	PDIA4,missense_variant,p.Val564Leu,ENST00000286091,NM_004911.4;PDIA4,downstream_gene_variant,,ENST00000466592,;	A	ENST00000286091	Transcript	missense_variant	1923/2903	1690/1938	564/645	V/L	Gtg/Ttg	rs374338308	1		-1	PDIA4	HGNC	HGNC:30167	protein_coding	YES	CCDS5893.1	ENSP00000286091	P13667	A0A090N8Y2	UPI000004062C	NM_004911.4	tolerated(0.22)		10/10		PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF110,PROSITE_patterns:PS00194,Pfam_domain:PF00085,TIGRFAM_domain:TIGR01130,TIGRFAM_domain:TIGR01126,PIRSF_domain:PIRSF036862,Gene3D:3.40.30.10,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		rs374338308	.												A	3	1	70	149004042	149004042	C	A	1	0	0	0	0	1	0	0	0	11758	536	19	1		1	PDIA4	7	149004042	Missense_Mutation	SNP	C	C3N-01030_TP	188529	149004042	10341931	347	22524											
SSPO	0	.	GRCh38	chr7	149783211	149783211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgctagcaagttccaGgtggccggcaagggaagatg	9	8	15	9	1	0	1	0	0	0	1	1	2	1	2	3	4	2	4	3	4	4	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2184G>T	p.Gln728His	p.Q728H	ENST00000378016	15/107	598	483	115	311	311	0	strelka-varscan-mutect	SSPO,missense_variant,p.Gln728His,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,non_coding_transcript_exon_variant,,ENST00000486824,;SSPO,upstream_gene_variant,,ENST00000475488,;SSPO,upstream_gene_variant,,ENST00000493502,;	T	ENST00000378016	Transcript	missense_variant	2184/15589	2184/15453	728/5150	Q/H	caG/caT		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2	deleterious(0.04)		15/107		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF294																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	149783211	149783211	G	T	1	0	0	0	0	1	0	0	0	15566	991	35	2		2	SSPO	7	149783211	Missense_Mutation	SNP	G	C3N-01030_TP	779169	149783211	9562762	348	22525											
KCNH2	0	.	GRCh38	chr7	150951637	150951637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcgcccaggttgtgcaGccagccgatgcgtgagtcca	6	8	14	13	3	0	1	0	1	0	0	2	2	1	1	4	2	4	2	4	2	0	1			C3N-01030_TP	C3N-01030_NB	G	G																c.1756C>A	p.Leu586Met	p.L586M	ENST00000262186	7/15	378	306	72	248	248	0	strelka-varscan-mutect	KCNH2,missense_variant,p.Leu586Met,ENST00000262186,NM_000238.3;KCNH2,missense_variant,p.Leu246Met,ENST00000330883,NM_172057.2;KCNH2,missense_variant,p.Leu470Met,ENST00000430723,NM_172056.2;KCNH2,non_coding_transcript_exon_variant,,ENST00000532957,;KCNH2,non_coding_transcript_exon_variant,,ENST00000473610,;KCNH2,non_coding_transcript_exon_variant,,ENST00000461280,;	T	ENST00000262186	Transcript	missense_variant	2158/4286	1756/3480	586/1159	L/M	Ctg/Atg	CM122154	1		-1	KCNH2	HGNC	HGNC:6251	protein_coding	YES	CCDS5910.1	ENSP00000262186	Q12809	A0A090N8Q0	UPI0000062255	NM_000238.3	deleterious(0)		7/15		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF506																	MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	70	150951637	150951637	G	T	1	0	0	0	0	1	0	0	0	7948	962	34	2		2	KCNH2	7	150951637	Missense_Mutation	SNP	G	C3N-01030_TP	1168426	150951637	8394336	349	22526											
ABCF2	0	.	GRCh38	chr7	151223755	151223755	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatggcaggtgtgaaaccCagtccatgcaagatccgcga	11	7	12	11	2	0	2	0	1	0	1	2	3	2	2	3	2	3	3	3	2	2	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.645G>C	p.=	p.L215L	ENST00000222388	5/16	101	78	23	78	78	0	strelka-varscan-mutect	ABCF2,synonymous_variant,p.=,ENST00000287844,NM_007189.2;ABCF2,synonymous_variant,p.=,ENST00000222388,NM_005692.4;ABCF2,synonymous_variant,p.=,ENST00000468073,;ABCF2,synonymous_variant,p.=,ENST00000441774,;ABCF2,upstream_gene_variant,,ENST00000473874,;ABCF2,downstream_gene_variant,,ENST00000477252,;	G	ENST00000222388	Transcript	synonymous_variant	691/2185	645/1905	215/634	L	ctG/ctC		1		-1	ABCF2	HGNC	HGNC:71	protein_coding	YES	CCDS5922.1	ENSP00000222388	Q9UG63	A0A090N7Y2	UPI000004C4C9	NM_005692.4			5/16		PROSITE_profiles:PS50893,hmmpanther:PTHR19211,hmmpanther:PTHR19211:SF15,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	70	151223755	151223755	C	G	1	0	0	0	0	0	0	0	1	70	581	21	4		4	ABCF2	7	151223755	Silent	SNP	C	C3N-01030_TP	272118	151223755	8122218	350	22527											
RBM33	0	.	GRCh38	chr7	155745310	155745310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacatccaattttgtaccatCcagtgccaacatgcagtatc	13	11	5	12	0	0	0	0	0	0	0	3	0	2	0	4	0	5	3	4	0	5	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2687C>T	p.Ser896Phe	p.S896F	ENST00000401878	14/18	457	409	48	416	416	0	strelka-varscan-mutect	RBM33,missense_variant,p.Ser896Phe,ENST00000401878,NM_053043.2;RBM33,missense_variant,p.Ser668Phe,ENST00000392761,;RBM33,upstream_gene_variant,,ENST00000341148,;RBM33,upstream_gene_variant,,ENST00000438356,;RBM33,3_prime_UTR_variant,,ENST00000307403,;	T	ENST00000401878	Transcript	missense_variant	2885/10149	2687/3513	896/1170	S/F	tCc/tTc		1		1	RBM33	HGNC	HGNC:27223	protein_coding	YES	CCDS5941.2	ENSP00000384160	Q96EV2		UPI00015743D7	NM_053043.2	tolerated(0.09)		14/18		hmmpanther:PTHR22014,hmmpanther:PTHR22014:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	155745310	155745310	C	T	1	0	0	0	0	1	0	0	0	13296	855	30	3		3	RBM33	7	155745310	Missense_Mutation	SNP	C	C3N-01030_TP	4521555	155745310	3600663	351	22528											
PTPRN2	0	.	GRCh38	chr7	158138402	158138402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctactccatggtccacgcCttgcatcaggccagccatca	9	8	8	16	1	2	0	2	0	0	0	4	0	4	0	5	2	4	2	5	2	1	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1024G>T	p.Gly342Cys	p.G342C	ENST00000389418	7/23	539	345	194	300	300	0	strelka-varscan-mutect	PTPRN2,missense_variant,p.Gly342Cys,ENST00000389413,NM_130843.2;PTPRN2,missense_variant,p.Gly304Cys,ENST00000409483,NM_001308267.1;PTPRN2,missense_variant,p.Gly342Cys,ENST00000389418,NM_001308268.1,NM_002847.3;PTPRN2,missense_variant,p.Gly325Cys,ENST00000389416,NM_130842.2;PTPRN2,missense_variant,p.Gly251Cys,ENST00000404321,;	A	ENST00000389418	Transcript	missense_variant	1034/4706	1024/3048	342/1015	G/C	Ggc/Tgc		1		-1	PTPRN2	HGNC	HGNC:9677	protein_coding	YES	CCDS5947.1	ENSP00000374069	Q92932		UPI000002E7C7	NM_001308268.1,NM_002847.3	tolerated(0.07)		7/23																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	158138402	158138402	C	A	1	0	0	0	0	1	0	0	0	12962	681	24	2		2	PTPRN2	7	158138402	Missense_Mutation	SNP	C	C3N-01030_TP	2393092	158138402	1207571	352	22529											
MYOM2	0	.	GRCh38	chr8	2090168	2090168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accttcggagataacgtcccCcattcaggcccaggatgtga	10	8	10	13	2	1	2	1	1	0	1	3	4	2	3	4	3	1	0	4	3	1	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1805C>A	p.Pro602His	p.P602H	ENST00000262113	15/37	107	93	14	89	89	0	strelka-varscan-mutect	MYOM2,missense_variant,p.Pro602His,ENST00000262113,NM_003970.3;MYOM2,missense_variant,p.Pro27His,ENST00000523438,;MYOM2,non_coding_transcript_exon_variant,,ENST00000518803,;MYOM2,downstream_gene_variant,,ENST00000519518,;	A	ENST00000262113	Transcript	missense_variant	1946/5014	1805/4398	602/1465	P/H	cCc/cAc		1		1	MYOM2	HGNC	HGNC:7614	protein_coding	YES	CCDS5957.1	ENSP00000262113	P54296		UPI000442D01B	NM_003970.3	deleterious(0)		15/37		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	2090168	2090168	C	A	1	0	0	0	0	1	0	0	0	10093	623	22	2		2	MYOM2	8	2090168	Missense_Mutation	SNP	C	C3N-01030_TP		2090168	143048468	353	22530											
CSMD1	0	.	GRCh38	chr8	3029362	3029362	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctatgttccacgtcccattGgcctggcaccgcaggagcct	6	9	10	16	2	0	0	0	0	0	0	2	1	2	1	6	3	1	3	6	3	1	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.7815C>A	p.=	p.A2605A	ENST00000520002	52/71	113	103	10	105	105	0	strelka-varscan-mutect	CSMD1,synonymous_variant,p.=,ENST00000537824,;CSMD1,synonymous_variant,p.=,ENST00000335551,;CSMD1,synonymous_variant,p.=,ENST00000520002,;CSMD1,synonymous_variant,p.=,ENST00000602557,;CSMD1,synonymous_variant,p.=,ENST00000635120,NM_033225.5;CSMD1,synonymous_variant,p.=,ENST00000400186,;CSMD1,synonymous_variant,p.=,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000519623,;	T	ENST00000520002	Transcript	synonymous_variant	8371/11740	7815/10698	2605/3565	A	gcC/gcA		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB				52/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	70	3029362	3029362	G	T	1	0	0	0	0	0	0	0	1	3745	1335	47	2		2	CSMD1	8	3029362	Silent	SNP	G	C3N-01030_TP	939194	3029362	142109274	354	22531											
CSMD1	0	.	GRCh38	chr8	3284218	3284218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagggtgagtgagttgaagGtgctgtggatgtcctccgga	7	10	18	6	1	0	3	0	3	0	0	2	5	2	5	2	4	1	3	2	4	1	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.4082C>A	p.Thr1361Asn	p.T1361N	ENST00000520002	27/71	299	212	87	270	270	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Thr1222Asn,ENST00000537824,;CSMD1,missense_variant,p.Thr841Asn,ENST00000335551,;CSMD1,missense_variant,p.Thr1361Asn,ENST00000520002,;CSMD1,missense_variant,p.Thr1361Asn,ENST00000602557,;CSMD1,missense_variant,p.Thr1360Asn,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Thr1361Asn,ENST00000400186,;CSMD1,missense_variant,p.Thr1361Asn,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000521646,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	T	ENST00000520002	Transcript	missense_variant	4638/11740	4082/10698	1361/3565	T/N	aCc/aAc		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0)		27/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	3284218	3284218	G	T	1	0	0	0	0	1	0	0	0	3745	1261	44	2		2	CSMD1	8	3284218	Missense_Mutation	SNP	G	C3N-01030_TP	254856	3284218	141854418	355	22532											
CSMD1	0	.	GRCh38	chr8	3348145	3348145	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccttcatttcctttgacActtgctccacattcggctac	6	16	5	14	1	1	1	1	1	0	0	5	1	4	1	3	1	2	3	3	1	1	7	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.3324T>C	p.=	p.S1108S	ENST00000520002	23/71	148	133	15	187	187	0	strelka-varscan-mutect	CSMD1,synonymous_variant,p.=,ENST00000537824,;CSMD1,synonymous_variant,p.=,ENST00000335551,;CSMD1,synonymous_variant,p.=,ENST00000520002,;CSMD1,synonymous_variant,p.=,ENST00000602557,;CSMD1,synonymous_variant,p.=,ENST00000635120,NM_033225.5;CSMD1,synonymous_variant,p.=,ENST00000400186,;CSMD1,synonymous_variant,p.=,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	G	ENST00000520002	Transcript	synonymous_variant	3880/11740	3324/10698	1108/3565	S	agT/agC		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB				23/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	70	3348145	3348145	A	G	1	0	0	0	0	0	0	0	1	3745	156	6	5		5	CSMD1	8	3348145	Silent	SNP	A	C3N-01030_TP	63927	3348145	141790491	356	22533											
CSMD1	0	.	GRCh38	chr8	3387624	3387624	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgccaaagtctccaccgtgGcgatggccgttcacagggat	9	8	12	12	3	2	0	1	0	1	0	3	2	2	1	4	3	1	1	4	3	1	1			C3N-01030_TP	C3N-01030_NB	G	G																c.2655C>G	p.=	p.R885R	ENST00000520002	19/71	126	101	25	126	126	0	strelka-varscan-mutect	CSMD1,synonymous_variant,p.=,ENST00000537824,;CSMD1,synonymous_variant,p.=,ENST00000335551,;CSMD1,synonymous_variant,p.=,ENST00000520002,;CSMD1,synonymous_variant,p.=,ENST00000602557,;CSMD1,synonymous_variant,p.=,ENST00000635120,NM_033225.5;CSMD1,synonymous_variant,p.=,ENST00000400186,;CSMD1,synonymous_variant,p.=,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	C	ENST00000520002	Transcript	synonymous_variant	3211/11740	2655/10698	885/3565	R	cgC/cgG	COSM3432362,COSM3432363,COSM3432364	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB				19/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535											1,1,1						LOW	1	SNV	5		1,1,1	1										PASS		.	.												C	2	2	70	3387624	3387624	G	C	1	0	0	0	0	0	0	0	1	3745	1190	42	4		4	CSMD1	8	3387624	Silent	SNP	G	C3N-01030_TP	39479	3387624	141751012	357	22534											
RP1L1	0	.	GRCh38	chr8	10611081	10611081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgctgtcccgcctgagctGgctcccccaggccttccaga	5	8	10	18	1	0	2	0	1	0	1	3	2	3	2	6	2	2	3	6	2	0	1	rs750020905		C3N-01030_TP	C3N-01030_NB	G	G																c.3017C>A	p.Pro1006Gln	p.P1006Q	ENST00000382483	4/4	146	131	15	106	106	0	strelka-varscan-mutect	RP1L1,missense_variant,p.Pro1006Gln,ENST00000382483,NM_178857.5;	T	ENST00000382483	Transcript	missense_variant	3241/7973	3017/7203	1006/2400	P/Q	cCa/cAa	rs750020905	1		-1	RP1L1	HGNC	HGNC:15946	protein_coding	YES	CCDS43708.1	ENSP00000371923		A6NKC6	UPI00001AF9CC	NM_178857.5	tolerated(0.11)		4/4		hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF3																	MODERATE	1	SNV	1			1										PASS		rs750020905	.												T	3	4	70	10611081	10611081	G	T	1	0	0	0	0	1	0	0	0	13773	1348	47	2		2	RP1L1	8	10611081	Missense_Mutation	SNP	G	C3N-01030_TP	7223457	10611081	134527555	358	22535											
C8orf74	0	.	GRCh38	chr8	10697783	10697783	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctgaccgttgcccacctGgaggtgtgcatgccacccca	7	7	11	16	1	0	1	0	1	0	0	0	3	0	2	7	2	3	2	7	2	0	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.426G>T	p.=	p.L142L	ENST00000304519	3/4	129	104	25	135	134	1	strelka-varscan-mutect	C8orf74,synonymous_variant,p.=,ENST00000304519,NM_001040032.1;C8orf74,downstream_gene_variant,,ENST00000521818,;RP1L1,intron_variant,,ENST00000329335,;C8orf74,3_prime_UTR_variant,,ENST00000523289,;	T	ENST00000304519	Transcript	synonymous_variant	455/1036	426/885	142/294	L	ctG/ctT		1		1	C8orf74	HGNC	HGNC:32296	protein_coding	YES	CCDS47800.1	ENSP00000307129	Q6P047		UPI00001D82A9	NM_001040032.1			3/4		hmmpanther:PTHR28457,hmmpanther:PTHR28457:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	10697783	10697783	G	T	1	0	0	0	0	0	0	0	1	2163	1335	47	2		2	C8orf74	8	10697783	Silent	SNP	G	C3N-01030_TP	86702	10697783	134440853	359	22536											
TEX15	0	.	GRCh38	chr8	30846926	30846926	+	Missense_Mutation	SNP	G	G	T																															ttcacaaagcatgttttcatGgctatgtgtatcttgttgaa																								novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2092C>A	p.His698Asn	p.H698N	ENST00000256246	1/4	99	87	12	144	144	0	strelka-varscan-mutect	TEX15,missense_variant,p.His698Asn,ENST00000256246,NM_031271.3;TEX15,downstream_gene_variant,,ENST00000523186,;	T	ENST00000256246	Transcript	missense_variant	2167/10187	2092/8370	698/2789	H/N	Cat/Aat		1		-1	TEX15	HGNC	HGNC:11738	protein_coding	YES	CCDS6080.1	ENSP00000256246	Q9BXT5		UPI000013CEF9	NM_031271.3	tolerated(0.09)		1/4		hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	30846926	30846926	G	T	1	0	0	0	0	1	0	0	0	16201	1348	47	2		2	TEX15	8	30846926	Missense_Mutation	SNP	G	C3N-01030_TP	20149143	30846926	114291710	360	22537	476	2									
TEX15	0	.	GRCh38	chr8	30846927	30846927	+	Missense_Mutation	SNP	G	G	T																															tcacaaagcatgttttcatgGctatgtgtatcttgttgaaa																								rs766011268		C3N-01030_TP	C3N-01030_NB	G	G																c.2091C>A	p.Ser697Arg	p.S697R	ENST00000256246	1/4	98	87	11	142	142	0	strelka-varscan-mutect	TEX15,missense_variant,p.Ser697Arg,ENST00000256246,NM_031271.3;TEX15,downstream_gene_variant,,ENST00000523186,;	T	ENST00000256246	Transcript	missense_variant	2166/10187	2091/8370	697/2789	S/R	agC/agA	rs766011268	1		-1	TEX15	HGNC	HGNC:11738	protein_coding	YES	CCDS6080.1	ENSP00000256246	Q9BXT5		UPI000013CEF9	NM_031271.3	deleterious(0.03)		1/4		hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1																	MODERATE	1	SNV	1			1										PASS		rs766011268	.												T	3	4	70	30846927	30846927	G	T	1	0	0	0	0	1	0	0	0	16201	1194	42	2		2	TEX15	8	30846927	Missense_Mutation	SNP	G	C3N-01030_TP	1	30846927	114291709	361	22538	476	2									
UNC5D	0	.	GRCh38	chr8	35684744	35684744	+	Frame_Shift_Del	DEL	G	G	-																															aataacctgcacttctctttGtcctggtgagatatatgcag																										C3N-01030_TP	C3N-01030_NB	G	G																c.914delG	p.Cys305PhefsTer43	p.C305Ffs*43	ENST00000404895	6/17	53	35	18	55	55	0	sindel-varindel-pindel	UNC5D,frameshift_variant,p.Cys300PhefsTer43,ENST00000453357,;UNC5D,frameshift_variant,p.Cys305PhefsTer43,ENST00000416672,;UNC5D,frameshift_variant,p.Cys305PhefsTer43,ENST00000404895,NM_080872.2;UNC5D,intron_variant,,ENST00000287272,;UNC5D,intron_variant,,ENST00000420357,;UNC5D,non_coding_transcript_exon_variant,,ENST00000474634,;	-	ENST00000404895	Transcript	frameshift_variant	1242/3252	914/2862	305/953	C/X	tGt/tt	COSM216107	1		1	UNC5D	HGNC	HGNC:18634	protein_coding	YES	CCDS6093.2	ENSP00000385143	Q6UXZ4		UPI00001D6915	NM_080872.2			6/17		PROSITE_profiles:PS50092,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF5,SMART_domains:SM00209											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	70	35684744	35684744	G	-	1	0	1	0	1	0	0	0	0	17519	1391	48	0		0	UNC5D	8	35684744	Frame_Shift_Del	DEL	G	C3N-01030_TP	4837817	35684744	109453892	362	22539											
ADAM18	0	.	GRCh38	chr8	39637657	39637657	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagatttttggcatggaaaCgggactatctcatcctacgg	12	11	10	8	2	1	1	1	0	1	1	3	3	2	3	1	4	2	1	1	4	4	4	rs141094631		C3N-01030_TP	C3N-01030_NB	C	C																c.781C>A	p.=	p.R261R	ENST00000265707	9/20	93	71	22	139	139	0	strelka-varscan-mutect	ADAM18,synonymous_variant,p.=,ENST00000265707,NM_014237.2;ADAM18,synonymous_variant,p.=,ENST00000379866,NM_001320313.1;ADAM18,3_prime_UTR_variant,,ENST00000520087,;	A	ENST00000265707	Transcript	synonymous_variant	826/2388	781/2220	261/739	R	Cgg/Agg	rs141094631,COSM1099750	1		1	ADAM18	HGNC	HGNC:196	protein_coding	YES	CCDS6113.1	ENSP00000265707	Q9Y3Q7		UPI00001254D7	NM_014237.2			9/20		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF158,Superfamily_domains:SSF55486											0,1						LOW	1	SNV	1		0,1	1										PASS		rs141094631	.												A	2	1	70	39637657	39637657	C	A	1	0	0	0	0	0	0	0	1	283	527	19	1		1	ADAM18	8	39637657	Silent	SNP	C	C3N-01030_TP	3952913	39637657	105500979	363	22540											
ADAM18	0	.	GRCh38	chr8	39645397	39645397	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagctcaactgcttggcctTaatgtaggattaacatatga	13	13	8	7	0	1	1	1	1	0	0	1	2	1	2	1	2	4	3	1	2	6	6	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.969T>A	p.=	p.L323L	ENST00000265707	11/20	111	73	38	190	189	1	strelka-varscan-mutect	ADAM18,synonymous_variant,p.=,ENST00000265707,NM_014237.2;ADAM18,synonymous_variant,p.=,ENST00000379866,NM_001320313.1;ADAM18,3_prime_UTR_variant,,ENST00000520087,;	A	ENST00000265707	Transcript	synonymous_variant	1014/2388	969/2220	323/739	L	ctT/ctA		1		1	ADAM18	HGNC	HGNC:196	protein_coding	YES	CCDS6113.1	ENSP00000265707	Q9Y3Q7		UPI00001254D7	NM_014237.2			11/20		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF158,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	39645397	39645397	T	A	1	0	0	0	0	0	0	0	1	283	1741	61	4		4	ADAM18	8	39645397	Silent	SNP	T	C3N-01030_TP	7740	39645397	105493239	364	22541											
SLC20A2	0	.	GRCh38	chr8	42465802	42465802	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgacaagctccatccactgCacacctttggtaccgattgc	9	11	7	14	1	0	1	0	1	0	0	2	2	2	1	4	1	4	3	4	1	2	4			C3N-01030_TP	C3N-01030_NB	C	C																c.405G>T	p.=	p.V135V	ENST00000342228	3/11	129	93	36	145	145	0	strelka-mutect	SLC20A2,synonymous_variant,p.=,ENST00000342228,NM_006749.4;SLC20A2,synonymous_variant,p.=,ENST00000520262,NM_001257180.1;SLC20A2,synonymous_variant,p.=,ENST00000520179,NM_001257181.1;SLC20A2,upstream_gene_variant,,ENST00000518660,;SLC20A2,3_prime_UTR_variant,,ENST00000524211,;	A	ENST00000342228	Transcript	synonymous_variant	775/3657	405/1959	135/652	V	gtG/gtT	COSM3900300	1		-1	SLC20A2	HGNC	HGNC:10947	protein_coding	YES	CCDS6132.1	ENSP00000340465	Q08357		UPI000006DC58	NM_006749.4			3/11		hmmpanther:PTHR11101,hmmpanther:PTHR11101:SF15,Pfam_domain:PF01384											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	70	42465802	42465802	C	A	1	0	0	0	0	0	0	0	1	14705	697	25	2		2	SLC20A2	8	42465802	Silent	SNP	C	C3N-01030_TP	2820405	42465802	102672834	365	22542											
HOOK3	0	.	GRCh38	chr8	42974106	42974106	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtttttgtgtctctccaGaggctgagaacagaaaggga	11	11	12	7	0	1	3	0	1	1	3	3	5	2	4	1	2	1	2	1	2	2	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1234-1G>T		p.X412_splice	ENST00000307602		58	39	19	75	75	0	strelka-varscan-mutect	HOOK3,splice_acceptor_variant,,ENST00000307602,NM_032410.3;HOOK3,splice_acceptor_variant,,ENST00000527306,;HOOK3,upstream_gene_variant,,ENST00000526882,;	T	ENST00000307602	Transcript	splice_acceptor_variant	-/14398	1234/2157	412/718				1		1	HOOK3	HGNC	HGNC:23576	protein_coding	YES	CCDS6139.1	ENSP00000305699	Q86VS8		UPI000006DD7B	NM_032410.3				12/21																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	70	42974106	42974106	G	T	1	0	0	0	0	0	0	1	0	7178	956	33	2		2	HOOK3	8	42974106	Splice_Site	SNP	G	C3N-01030_TP	508304	42974106	102164530	366	22543											
C8orf22	0	.	GRCh38	chr8	49074136	49074136	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacgacaaaccacagcaaGgtacttagttatttctttca	14	12	6	9	1	2	1	1	1	1	0	2	2	2	1	1	1	3	3	1	1	5	5	rs538898821		C3N-01030_TP	C3N-01030_NB	G	G																c.133G>C	p.Gly45Arg	p.G45R	ENST00000303202	3/5	155	88	67	157	157	0	strelka-varscan-mutect	C8orf22,missense_variant,p.Gly45Arg,ENST00000303202,NM_001256598.1;C8orf22,missense_variant,p.Gly45Arg,ENST00000399653,NM_001007176.4;C8orf22,missense_variant,p.Gly45Arg,ENST00000517663,NM_001256596.1;C8orf22,missense_variant,p.Gly45Arg,ENST00000522267,NM_001256597.1;	C	ENST00000303202	Transcript	missense_variant,splice_region_variant	306/1499	133/255	45/84	G/R	Ggg/Cgg	rs538898821,COSM4900592,COSM4900593	1		1	C8orf22	HGNC	HGNC:31745	protein_coding	YES	CCDS59101.1	ENSP00000304926	Q8WWR9		UPI0000070316	NM_001256598.1	deleterious(0)		3/5		hmmpanther:PTHR14572:SF1,hmmpanther:PTHR14572,Pfam_domain:PF15060,Prints_domain:PR02071											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs538898821	.												C	3	2	70	49074136	49074136	G	C	1	0	0	0	0	1	0	0	0	2153	1014	35	4		4	C8orf22	8	49074136	Missense_Mutation	SNP	G	C3N-01030_TP	6100030	49074136	96064500	367	22544											
OPRK1	0	.	GRCh38	chr8	53250829	53250829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaccaagcccacgacgAacactacggagtagaccgcc	12	3	9	17	4	0	1	0	0	0	1	0	4	0	2	5	1	4	1	5	1	4	2	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.209T>C	p.Phe70Ser	p.F70S	ENST00000265572	2/4	198	186	12	148	148	0	strelka-varscan-mutect	OPRK1,missense_variant,p.Phe70Ser,ENST00000265572,NM_001318497.1,NM_000912.3;OPRK1,missense_variant,p.Phe56Ser,ENST00000613482,;OPRK1,missense_variant,p.Phe70Ser,ENST00000520287,;OPRK1,5_prime_UTR_variant,,ENST00000612786,NM_001282904.1;OPRK1,missense_variant,p.Phe70Ser,ENST00000522508,;	G	ENST00000265572	Transcript	missense_variant	507/5014	209/1143	70/380	F/S	tTc/tCc		1		-1	OPRK1	HGNC	HGNC:8154	protein_coding	YES	CCDS6152.1	ENSP00000265572	P41145		UPI000011D794	NM_001318497.1,NM_000912.3	deleterious(0.02)		2/4		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF1,Low_complexity_(Seg):seg,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	53250829	53250829	A	G	1	0	0	0	0	1	0	0	0	10961	246	9	5		5	OPRK1	8	53250829	Missense_Mutation	SNP	A	C3N-01030_TP	4176693	53250829	91887807	368	22545											
SOX17	0	.	GRCh38	chr8	54459602	54459602	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgggtccctcgattccGggcctcctggcgccacccag	3	6	12	20	5	0	0	0	0	0	0	4	1	3	0	7	3	0	0	7	3	0	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.852G>T	p.=	p.P284P	ENST00000297316	2/2	283	238	45	169	169	0	strelka-varscan-mutect	SOX17,synonymous_variant,p.=,ENST00000297316,NM_022454.3;	T	ENST00000297316	Transcript	synonymous_variant	1056/2342	852/1245	284/414	P	ccG/ccT		1		1	SOX17	HGNC	HGNC:18122	protein_coding	YES	CCDS6159.1	ENSP00000297316	Q9H6I2		UPI00001362B7	NM_022454.3			2/2		PROSITE_profiles:PS51516,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF216																	LOW	1	SNV	1			1										PASS		rs1441052427	.												T	2	4	70	54459602	54459602	G	T	1	0	0	0	0	0	0	0	1	15273	1103	39	1		1	SOX17	8	54459602	Silent	SNP	G	C3N-01030_TP	1208773	54459602	90679034	369	22546											
CHD7	0	.	GRCh38	chr8	60853216	60853216	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatctgctcatattcaagAtgagagggtactggaacaag	13	10	10	8	0	4	2	3	1	1	2	4	4	4	3	0	2	3	2	0	2	5	3	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.6491A>C	p.Asp2164Ala	p.D2164A	ENST00000423902	31/38	279	257	22	174	174	0	strelka-varscan-mutect	CHD7,missense_variant,p.Asp2164Ala,ENST00000423902,NM_017780.3;CHD7,intron_variant,,ENST00000524602,;CHD7,upstream_gene_variant,,ENST00000529472,;CHD7,downstream_gene_variant,,ENST00000527921,;CHD7,upstream_gene_variant,,ENST00000531695,;	C	ENST00000423902	Transcript	missense_variant	6970/11568	6491/8994	2164/2997	D/A	gAt/gCt		1		1	CHD7	HGNC	HGNC:20626	protein_coding	YES	CCDS47865.1	ENSP00000392028	Q9P2D1		UPI0000251DA6	NM_017780.3	tolerated(0.17)		31/38																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	70	60853216	60853216	A	C	1	0	0	0	0	1	0	0	0	3089	333	12	5		5	CHD7	8	60853216	Missense_Mutation	SNP	A	C3N-01030_TP	6393614	60853216	84285420	370	22547											
ZFHX4	0	.	GRCh38	chr8	76854918	76854918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggaaaggccagttccGggcggtgggtccagcacagt	9	5	18	9	2	0	1	0	0	0	1	2	3	2	2	3	6	1	2	3	6	1	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.7997G>T	p.Arg2666Leu	p.R2666L	ENST00000521891	10/11	140	122	18	95	95	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Arg2666Leu,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Arg2640Leu,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	T	ENST00000521891	Transcript	missense_variant	8445/14019	7997/10851	2666/3616	R/L	cGg/cTg		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0)		10/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00389																	MODERATE	1	SNV	5			1										PASS		rs1037499412	.												T	3	4	70	76854918	76854918	G	T	1	0	0	0	0	1	0	0	0	18213	1116	39	1		1	ZFHX4	8	76854918	Missense_Mutation	SNP	G	C3N-01030_TP	16001702	76854918	68283718	371	22548											
WWP1	0	.	GRCh38	chr8	86448276	86448276	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttataactcccttatctgGataaggtttgaagattttgt	10	19	7	5	0	1	2	0	1	1	1	2	3	2	3	1	2	1	1	1	2	5	8	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2127G>A	p.Trp709Ter	p.W709*	ENST00000517970	19/25	81	75	6	107	107	0	varscan-mutect	WWP1,stop_gained,p.Trp709Ter,ENST00000517970,NM_007013.3;WWP1,stop_gained,p.Trp709Ter,ENST00000265428,;WWP1,stop_gained,p.Trp210Ter,ENST00000520453,;WWP1,non_coding_transcript_exon_variant,,ENST00000518683,;WWP1,non_coding_transcript_exon_variant,,ENST00000524036,;WWP1,non_coding_transcript_exon_variant,,ENST00000521997,;	A	ENST00000517970	Transcript	stop_gained	2434/4686	2127/2769	709/922	W/*	tgG/tgA		1		1	WWP1	HGNC	HGNC:17004	protein_coding	YES	CCDS6242.1	ENSP00000427793	Q9H0M0		UPI0000035537	NM_007013.3			19/25		PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF299,Pfam_domain:PF00632,Gene3D:1c4zA02,PIRSF_domain:PIRSF001569,SMART_domains:SM00119,Superfamily_domains:SSF56204																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	86448276	86448276	G	A	1	0	0	0	0	0	1	0	0	17973	1188	41	3		3	WWP1	8	86448276	Nonsense_Mutation	SNP	G	C3N-01030_TP	9593358	86448276	58690360	372	22549											
RUNX1T1	0	.	GRCh38	chr8	91986931	91986931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccattctctgtctgttaGtctgtgatcaatcatttctt	6	19	6	10	0	6	1	2	1	4	0	7	1	6	1	1	0	1	1	1	0	2	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1210C>G	p.Leu404Val	p.L404V	ENST00000436581	8/12	252	133	119	256	256	0	strelka-varscan-mutect	RUNX1T1,missense_variant,p.Leu345Val,ENST00000613302,NM_001198630.1,NM_001198627.1;RUNX1T1,missense_variant,p.Leu345Val,ENST00000617740,NM_001198629.1,NM_001198626.1;RUNX1T1,missense_variant,p.Leu345Val,ENST00000523629,NM_175634.2;RUNX1T1,missense_variant,p.Leu345Val,ENST00000614812,NM_001198631.1;RUNX1T1,missense_variant,p.Leu404Val,ENST00000436581,NM_001198679.1;RUNX1T1,missense_variant,p.Leu318Val,ENST00000613886,NM_001198632.1;RUNX1T1,missense_variant,p.Leu325Val,ENST00000615601,NM_001198633.1;RUNX1T1,missense_variant,p.Leu345Val,ENST00000265814,NM_001198628.1;RUNX1T1,missense_variant,p.Leu318Val,ENST00000396218,NM_004349.3;RUNX1T1,missense_variant,p.Leu318Val,ENST00000518844,NM_001198625.1;RUNX1T1,missense_variant,p.Leu308Val,ENST00000422361,NM_175636.2;RUNX1T1,missense_variant,p.Leu308Val,ENST00000360348,NM_175635.2;RUNX1T1,missense_variant,p.Leu356Val,ENST00000520724,NM_001198634.1;RUNX1T1,missense_variant,p.Leu45Val,ENST00000521751,;RUNX1T1,3_prime_UTR_variant,,ENST00000520978,;RUNX1T1,3_prime_UTR_variant,,ENST00000518361,;RUNX1T1,downstream_gene_variant,,ENST00000520047,;	C	ENST00000436581	Transcript	missense_variant	1397/7454	1210/1992	404/663	L/V	Cta/Gta		1		-1	RUNX1T1	HGNC	HGNC:1535	protein_coding	YES	CCDS75766.1	ENSP00000402257		A0A0A0MSU1	UPI0001E7B0BD	NM_001198679.1	deleterious(0.02)		8/12		hmmpanther:PTHR10379:SF5,hmmpanther:PTHR10379,Pfam_domain:PF08788																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	70	91986931	91986931	G	C	1	0	0	0	0	1	0	0	0	14008	1020	36	4		4	RUNX1T1	8	91986931	Missense_Mutation	SNP	G	C3N-01030_TP	5538655	91986931	53151705	373	22550											
GDF6	0	.	GRCh38	chr8	96144742	96144742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgatggcgtggttggtggGctccaggtgcgagcgcagcg	5	8	20	8	4	0	1	0	1	0	0	1	3	1	1	1	5	3	3	1	5	0	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1189C>T	p.Pro397Ser	p.P397S	ENST00000287020	2/2	652	528	124	377	376	1	strelka-varscan-mutect	GDF6,missense_variant,p.Pro397Ser,ENST00000287020,NM_001001557.2;GDF6,missense_variant,p.Ala313Val,ENST00000621429,;GDF6,intron_variant,,ENST00000620978,;KB-1043D8.8,upstream_gene_variant,,ENST00000602571,;	A	ENST00000287020	Transcript	missense_variant	1289/3701	1189/1368	397/455	P/S	Ccc/Tcc		1		-1	GDF6	HGNC	HGNC:4221	protein_coding	YES	CCDS34926.1	ENSP00000287020	Q6KF10	A0A0S2A5D6	UPI0000047253	NM_001001557.2	deleterious(0)		2/2		Gene3D:2.10.90.10,Pfam_domain:PF00019,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF43,SMART_domains:SM00204,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	96144742	96144742	G	A	1	0	0	0	0	1	0	0	0	6190	1203	42	3		3	GDF6	8	96144742	Missense_Mutation	SNP	G	C3N-01030_TP	4157811	96144742	48993894	374	22551											
TSPYL5	0	.	GRCh38	chr8	97277172	97277172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaaacttcctggagagccGaaggtaggccctgtccgcct	8	7	11	15	2	0	1	0	0	0	1	2	3	2	1	6	3	2	1	6	3	3	2			C3N-01030_TP	C3N-01030_NB	G	G																c.673C>T	p.Arg225Trp	p.R225W	ENST00000322128	1/1	325	293	32	219	219	0	strelka-varscan-mutect	TSPYL5,missense_variant,p.Arg225Trp,ENST00000322128,NM_033512.2;	A	ENST00000322128	Transcript	missense_variant	793/4491	673/1254	225/417	R/W	Cgg/Tgg	COSM4828540	1		-1	TSPYL5	HGNC	HGNC:29367	protein_coding	YES	CCDS34927.1	ENSP00000322802	Q86VY4		UPI0000210364	NM_033512.2	deleterious(0)		1/1		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF30,Superfamily_domains:SSF143113											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	70	97277172	97277172	G	A	1	0	0	0	0	1	0	0	0	17169	1057	37	1		1	TSPYL5	8	97277172	Missense_Mutation	SNP	G	C3N-01030_TP	1132430	97277172	47861464	375	22552											
VPS13B	0	.	GRCh38	chr8	99818461	99818461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgtgcaggtgccatcttCaaacagttccattatttatg	10	15	7	9	0	3	0	2	0	1	0	4	0	4	0	2	1	3	2	2	1	3	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.8447C>T	p.Ser2816Leu	p.S2816L	ENST00000358544	46/62	396	360	36	283	283	0	strelka-varscan-mutect	VPS13B,missense_variant,p.Ser2816Leu,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Ser2791Leu,ENST00000357162,NM_152564.4;	T	ENST00000358544	Transcript	missense_variant	8558/14094	8447/12069	2816/4022	S/L	tCa/tTa		1		1	VPS13B	HGNC	HGNC:2183	protein_coding	YES	CCDS6280.1	ENSP00000351346	Q7Z7G8		UPI00001D2D35	NM_017890.4	deleterious(0.04)		46/62		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	99818461	99818461	C	T	1	0	0	0	0	1	0	0	0	17737	838	29	3		3	VPS13B	8	99818461	Missense_Mutation	SNP	C	C3N-01030_TP	2541289	99818461	45320175	376	22553											
RIMS2	0	.	GRCh38	chr8	103886187	103886187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatatacaagttgtgatGatgttgagattgaaagtgag	14	13	12	2	0	0	6	0	6	0	1	0	7	0	6	0	0	1	2	0	0	5	5	rs747622094		C3N-01030_TP	C3N-01030_NB	G	G																c.1588G>T	p.Asp530Tyr	p.D530Y	ENST00000504942	4/24	167	81	86	129	128	1	strelka-varscan-mutect	RIMS2,missense_variant,p.Asp338Tyr,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Asp308Tyr,ENST00000436393,;RIMS2,missense_variant,p.Asp530Tyr,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Asp472Tyr,ENST00000626043,;RIMS2,missense_variant,p.Asp338Tyr,ENST00000408894,;RIMS2,missense_variant,p.Asp338Tyr,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Asp534Tyr,ENST00000632716,;RIMS2,missense_variant,p.Asp338Tyr,ENST00000515551,;	T	ENST00000504942	Transcript	missense_variant	1727/4228	1588/4050	530/1349	D/Y	Gat/Tat	rs747622094	1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0)		4/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		rs747622094	.												T	3	4	70	103886187	103886187	G	T	1	0	0	0	0	1	0	0	0	13543	1290	45	2		2	RIMS2	8	103886187	Missense_Mutation	SNP	G	C3N-01030_TP	4067726	103886187	41252449	377	22554											
KCNV1	0	.	GRCh38	chr8	109972358	109972358	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctcctgcgtggtctggctCccacttaggctctctaccag	5	11	10	15	1	2	0	0	0	2	0	5	0	4	0	3	3	3	3	3	3	2	2	rs866022506		C3N-01030_TP	C3N-01030_NB	C	C																c.891G>T	p.=	p.G297G	ENST00000524391	3/4	179	92	87	151	150	1	strelka-varscan-mutect	KCNV1,synonymous_variant,p.=,ENST00000524391,;KCNV1,synonymous_variant,p.=,ENST00000297404,NM_014379.2;RP11-696P8.2,upstream_gene_variant,,ENST00000530667,;	A	ENST00000524391	Transcript	synonymous_variant	1924/6979	891/1503	297/500	G	ggG/ggT	rs866022506	1		-1	KCNV1	HGNC	HGNC:18861	protein_coding	YES	CCDS6314.1	ENSP00000435954	Q6PIU1		UPI0000073DA5				3/4		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF38,Superfamily_domains:SSF81324																	LOW	1	SNV	1			1										PASS		rs866022506	.												A	2	1	70	109972358	109972358	C	A	1	0	0	0	0	0	0	0	1	8010	842	30	2		2	KCNV1	8	109972358	Silent	SNP	C	C3N-01030_TP	6086171	109972358	35166278	378	22555											
CSMD3	0	.	GRCh38	chr8	112638849	112638849	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtaaaactgccattctCtgtgatcagtaagtagtcat	11	14	9	7	0	3	1	2	1	1	0	4	1	3	1	1	1	2	3	1	1	4	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.3373G>T	p.Glu1125Ter	p.E1125*	ENST00000297405	21/71	261	234	27	225	225	0	strelka-varscan-mutect	CSMD3,stop_gained,p.Glu1125Ter,ENST00000297405,NM_198123.1;CSMD3,stop_gained,p.Glu1085Ter,ENST00000343508,NM_198124.1;CSMD3,stop_gained,p.Glu1021Ter,ENST00000455883,NM_052900.2;CSMD3,stop_gained,p.Glu465Ter,ENST00000339701,;MIR2053,upstream_gene_variant,,ENST00000459295,;	A	ENST00000297405	Transcript	stop_gained	3618/13212	3373/11124	1125/3707	E/*	Gag/Tag		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			21/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	112638849	112638849	C	A	1	0	0	0	0	0	1	0	0	3747	922	32	2		2	CSMD3	8	112638849	Nonsense_Mutation	SNP	C	C3N-01030_TP	2666491	112638849	32499787	379	22556											
PHF20L1	0	.	GRCh38	chr8	132839496	132839496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatctcaatgccaaaaaGatagtttctacacatcacct	14	12	3	12	0	4	1	3	0	3	1	6	1	4	1	2	0	2	1	2	0	5	3	rs774205944		C3N-01030_TP	C3N-01030_NB	G	G																c.2301G>T	p.Lys767Asn	p.K767N	ENST00000395386	18/21	222	201	21	188	188	0	strelka-varscan-mutect	PHF20L1,missense_variant,p.Lys767Asn,ENST00000395386,NM_016018.4;PHF20L1,missense_variant,p.Lys742Asn,ENST00000395390,;PHF20L1,missense_variant,p.Lys767Asn,ENST00000622263,;PHF20L1,missense_variant,p.Lys741Asn,ENST00000220847,NM_001277196.1;AF230666.2,intron_variant,,ENST00000608375,;AF230666.2,intron_variant,,ENST00000429151,;PHF20L1,3_prime_UTR_variant,,ENST00000460236,;PHF20L1,upstream_gene_variant,,ENST00000477051,;PHF20L1,downstream_gene_variant,,ENST00000493126,;	T	ENST00000395386	Transcript	missense_variant	2600/6237	2301/3054	767/1017	K/N	aaG/aaT	rs774205944,COSM268087,COSM5103274	1		1	PHF20L1	HGNC	HGNC:24280	protein_coding	YES	CCDS6367.2	ENSP00000378784	A8MW92		UPI0000DBD7AF	NM_016018.4	deleterious(0)		18/21		hmmpanther:PTHR15856:SF26,hmmpanther:PTHR15856											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs774205944	.												T	3	4	70	132839496	132839496	G	T	1	0	0	0	0	1	0	0	0	11918	933	33	2		2	PHF20L1	8	132839496	Missense_Mutation	SNP	G	C3N-01030_TP	20200647	132839496	12299140	380	22557											
ADGRB1	0	.	GRCh38	chr8	142464535	142464535	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctcgagtccacgcgcAcctacctgggcgtggagagc	6	7	12	16	4	0	1	0	0	0	1	3	3	2	1	5	2	2	1	5	2	1	2	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.337A>G	p.Thr113Ala	p.T113A	ENST00000517894	2/31	118	53	65	95	95	0	strelka-varscan-mutect	ADGRB1,missense_variant,p.Thr113Ala,ENST00000517894,;ADGRB1,missense_variant,p.Thr113Ala,ENST00000323289,NM_001702.2;ADGRB1,missense_variant,p.Thr113Ala,ENST00000521208,;	G	ENST00000517894	Transcript	missense_variant	1231/6241	337/4755	113/1584	T/A	Acc/Gcc		1		1	ADGRB1	HGNC	HGNC:943	protein_coding	YES	CCDS64985.1	ENSP00000430945	O14514		UPI00002109E8		deleterious(0.03)		2/31																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	70	142464535	142464535	A	G	1	0	0	0	0	1	0	0	0	355	159	6	5		5	ADGRB1	8	142464535	Missense_Mutation	SNP	A	C3N-01030_TP	9625039	142464535	2674101	381	22558											
EPPK1	0	.	GRCh38	chr8	143867899	143867899	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagcaaacctccccacGcgcatttttgcagttctgga	8	11	9	13	2	2	0	1	0	1	0	3	1	3	1	3	2	3	4	3	2	1	3	rs184979586		C3N-01030_TP	C3N-01030_NB	G	G																c.5355C>A	p.=	p.R1785R	ENST00000615648	2/2	260	242	18	166	166	0	strelka-varscan-mutect	EPPK1,synonymous_variant,p.=,ENST00000615648,NM_031308.3;EPPK1,synonymous_variant,p.=,ENST00000568225,;	T	ENST00000615648	Transcript	synonymous_variant	5427/16002	5355/15267	1785/5088	R	cgC/cgA	rs184979586	1		-1	EPPK1	HGNC	HGNC:15577	protein_coding	YES	CCDS75800.1	ENSP00000484472		A0A087X1U6	UPI0002065B93	NM_031308.3			2/2		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF252																	LOW	1	SNV	5			1										PASS		rs184979586	.												T	2	4	70	143867899	143867899	G	T	1	0	0	0	0	0	0	0	1	5038	1074	38	1		1	EPPK1	8	143867899	Silent	SNP	G	C3N-01030_TP	1403364	143867899	1270737	382	22559											
WDR97	0	.	GRCh38	chr8	144107801	144107801	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacaacctagttctggactcGgacctgtatgatgcggatgg	9	11	12	9	2	1	1	0	1	1	0	2	4	1	4	2	4	3	2	2	4	4	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.51G>T	p.=	p.S17S	ENST00000323662	1/24	383	355	28	257	257	0	strelka-varscan-mutect	WDR97,synonymous_variant,p.=,ENST00000323662,;SHARPIN,upstream_gene_variant,,ENST00000398712,NM_030974.3;MAF1,downstream_gene_variant,,ENST00000534585,;MAF1,downstream_gene_variant,,ENST00000322428,NM_032272.4;MAF1,downstream_gene_variant,,ENST00000532522,;MAF1,downstream_gene_variant,,ENST00000527058,;MAF1,downstream_gene_variant,,ENST00000527572,;MAF1,downstream_gene_variant,,ENST00000534811,;SHARPIN,intron_variant,,ENST00000533184,;WDR97,upstream_gene_variant,,ENST00000533108,;SHARPIN,upstream_gene_variant,,ENST00000533948,;SHARPIN,upstream_gene_variant,,ENST00000534242,;WDR97,synonymous_variant,p.=,ENST00000534167,;WDR97,upstream_gene_variant,,ENST00000528691,;WDR97,upstream_gene_variant,,ENST00000525150,;WDR97,upstream_gene_variant,,ENST00000529209,;SHARPIN,upstream_gene_variant,,ENST00000359551,;SHARPIN,upstream_gene_variant,,ENST00000534435,;SHARPIN,upstream_gene_variant,,ENST00000531375,;	T	ENST00000323662	Transcript	synonymous_variant	76/6916	51/4869	17/1622	S	tcG/tcT		1		1	WDR97	HGNC	HGNC:26959	protein_coding	YES		ENSP00000320648	A6NE52		UPI000173AA02				1/24		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF497																	LOW		SNV	5			1										PASS		.	.												T	2	4	70	144107801	144107801	G	T	1	0	0	0	0	0	0	0	1	17897	1103	39	1		1	WDR97	8	144107801	Silent	SNP	G	C3N-01030_TP	239902	144107801	1030835	383	22560											
CBWD1	0	.	GRCh38	chr9	156515	156515	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaggccatcaggtttctCttctgttaaatgctaaacaa	13	13	7	8	0	3	0	1	0	2	0	4	1	3	0	1	2	2	3	1	2	6	5			C3N-01030_TP	C3N-01030_NB	C	C																c.541G>T	p.Glu181Ter	p.E181*	ENST00000377400	7/15	156	127	29	257	257	0	strelka-varscan-mutect	CBWD1,stop_gained,p.Glu181Ter,ENST00000377447,;CBWD1,stop_gained,p.Glu181Ter,ENST00000377400,;CBWD1,stop_gained,p.Glu145Ter,ENST00000314367,NM_001145355.1;CBWD1,stop_gained,p.Glu181Ter,ENST00000356521,NM_018491.3;CBWD1,stop_gained,p.Glu181Ter,ENST00000382447,NM_001145356.1;CBWD1,stop_gained,p.Glu181Ter,ENST00000613508,;CBWD1,non_coding_transcript_exon_variant,,ENST00000495302,;CBWD1,non_coding_transcript_exon_variant,,ENST00000487575,;CBWD1,non_coding_transcript_exon_variant,,ENST00000498044,;CBWD1,downstream_gene_variant,,ENST00000431099,;CBWD1,3_prime_UTR_variant,,ENST00000618061,;CBWD1,3_prime_UTR_variant,,ENST00000612045,;CBWD1,3_prime_UTR_variant,,ENST00000616944,;CBWD1,3_prime_UTR_variant,,ENST00000465014,;CBWD1,3_prime_UTR_variant,,ENST00000613355,;CBWD1,3_prime_UTR_variant,,ENST00000619157,;CBWD1,3_prime_UTR_variant,,ENST00000618361,;CBWD1,3_prime_UTR_variant,,ENST00000489272,;CBWD1,3_prime_UTR_variant,,ENST00000616803,;CBWD1,non_coding_transcript_exon_variant,,ENST00000613988,;CBWD1,non_coding_transcript_exon_variant,,ENST00000620292,;	A	ENST00000377400	Transcript	stop_gained	719/1792	541/1188	181/395	E/*	Gag/Tag	COSM455707,COSM4815793,COSM4815794	1		-1	CBWD1	HGNC	HGNC:17134	protein_coding	YES	CCDS6438.1	ENSP00000366617	Q9BRT8		UPI000006EFDF				7/15		hmmpanther:PTHR13748:SF38,hmmpanther:PTHR13748,Pfam_domain:PF02492,Gene3D:3.40.50.300,Superfamily_domains:SSF52540											1,1,1						HIGH	1	SNV	1		1,1,1	1										PASS		.	.												A	4	1	70	156515	156515	C	A	1	0	0	0	0	0	1	0	0	2412	922	32	2		2	CBWD1	9	156515	Nonsense_Mutation	SNP	C	C3N-01030_TP		156515	138238202	384	22561											
PUM3	0	.	GRCh38	chr9	2828674	2828674	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacaaaaacaactttcttaCttttgggccattggagttag	14	13	7	7	0	1	0	0	0	1	0	1	1	1	1	1	2	4	1	1	2	6	6	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.956+1G>T		p.X319_splice	ENST00000397885		104	74	30	148	148	0	strelka-varscan-mutect	PUM3,splice_donor_variant,,ENST00000397885,NM_014878.4;PUM3,non_coding_transcript_exon_variant,,ENST00000469168,;	A	ENST00000397885	Transcript	splice_donor_variant	-/2321	956/1947	319/648				1		-1	PUM3	HGNC	HGNC:29676	protein_coding	YES	CCDS6448.2	ENSP00000380982	Q15397		UPI000013D67E	NM_014878.4				9/17																		HIGH	1	SNV	1			1										PASS		rs1377185761	.												A	5	1	70	2828674	2828674	C	A	1	0	0	0	0	0	0	1	0	12984	579	20	2		2	PUM3	9	2828674	Splice_Site	SNP	C	C3N-01030_TP	2672159	2828674	135566043	385	22562											
KIAA2026	0	.	GRCh38	chr9	6007420	6007420	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaggcgcgaccgccccggCccccgctgcgcggcccttcc	3	3	14	21	7	0	0	0	0	0	0	1	2	1	1	7	4	1	1	7	4	1	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.368G>T	p.Gly123Val	p.G123V	ENST00000399933	1/8	69	51	18	66	66	0	strelka-varscan-mutect	KIAA2026,missense_variant,p.Gly123Val,ENST00000399933,NM_001017969.2;KIAA2026,missense_variant,p.Gly123Val,ENST00000381461,;KIAA2026,missense_variant,p.Gly123Val,ENST00000513355,;RANBP6,downstream_gene_variant,,ENST00000259569,NM_012416.3;MIR4665,upstream_gene_variant,,ENST00000581132,;	A	ENST00000399933	Transcript	missense_variant	368/6988	368/6312	123/2103	G/V	gGc/gTc		1		-1	KIAA2026	HGNC	HGNC:23378	protein_coding	YES		ENSP00000382815	Q5HYC2		UPI0001533DB0	NM_001017969.2	tolerated_low_confidence(0.71)		1/8		hmmpanther:PTHR31095,hmmpanther:PTHR31095:SF3,Gene3D:1.20.920.10																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	6007420	6007420	C	A	1	0	0	0	0	1	0	0	0	8134	739	26	2		2	KIAA2026	9	6007420	Missense_Mutation	SNP	C	C3N-01030_TP	3178746	6007420	132387297	386	22563											
ELAVL2	0	.	GRCh38	chr9	23762095	23762095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgtgtcatgttctgaGgaaggtagttgactattaag	9	14	11	7	0	2	2	1	2	1	0	3	3	3	3	2	2	0	3	2	2	4	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.140C>A	p.Pro47His	p.P47H	ENST00000397312	2/7	192	143	49	235	235	0	strelka-varscan-mutect	ELAVL2,missense_variant,p.Pro47His,ENST00000397312,NM_004432.3;ELAVL2,missense_variant,p.Pro47His,ENST00000544538,;ELAVL2,missense_variant,p.Pro47His,ENST00000223951,NM_001171197.1,NM_001171195.1;ELAVL2,missense_variant,p.Pro76His,ENST00000380110,;ELAVL2,missense_variant,p.Pro47His,ENST00000380117,;ELAVL2,missense_variant,p.Pro47His,ENST00000440102,;ELAVL2,downstream_gene_variant,,ENST00000462649,;	T	ENST00000397312	Transcript	missense_variant	415/3805	140/1080	47/359	P/H	cCt/cAt		1		-1	ELAVL2	HGNC	HGNC:3313	protein_coding	YES	CCDS6515.1	ENSP00000380479	Q12926		UPI000013C83F	NM_004432.3	deleterious(0)		2/7		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF351,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01661,SMART_domains:SM00360,Superfamily_domains:SSF54928,Prints_domain:PR00961																	MODERATE	1	SNV	1			1										PASS		rs1442587497	.												T	3	4	70	23762095	23762095	G	T	1	0	0	0	0	1	0	0	0	4883	1000	35	2		2	ELAVL2	9	23762095	Missense_Mutation	SNP	G	C3N-01030_TP	17754675	23762095	114632622	387	22564											
ACO1	0	.	GRCh38	chr9	32448916	32448916	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcaaagccgtcctggcCgagagctacgagcgcattca	11	6	12	12	4	2	1	2	0	0	1	3	4	3	2	3	2	4	2	3	2	3	2	rs776083510		C3N-01030_TP	C3N-01030_NB	C	C																c.2391C>A	p.=	p.A797A	ENST00000309951	20/21	248	202	46	230	229	1	strelka-varscan-mutect	ACO1,synonymous_variant,p.=,ENST00000309951,NM_002197.2;ACO1,synonymous_variant,p.=,ENST00000541043,NM_001278352.1;ACO1,synonymous_variant,p.=,ENST00000379923,;	A	ENST00000309951	Transcript	synonymous_variant	2529/7466	2391/2670	797/889	A	gcC/gcA	rs776083510,COSM1108152,COSM1108154	1		1	ACO1	HGNC	HGNC:117	protein_coding	YES	CCDS6525.1	ENSP00000309477	P21399	V9HWB7	UPI000012D87E	NM_002197.2			20/21		hmmpanther:PTHR11670:SF32,hmmpanther:PTHR11670,Pfam_domain:PF00694,Gene3D:3.20.19.10,TIGRFAM_domain:TIGR01341,Superfamily_domains:SSF52016											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs776083510	.												A	2	1	70	32448916	32448916	C	A	1	0	0	0	0	0	0	0	1	187	639	23	1		1	ACO1	9	32448916	Silent	SNP	C	C3N-01030_TP	8686821	32448916	105945801	388	22565											
C9orf24	0	.	GRCh38	chr9	34382805	34382805	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgcagcagctgctgttGtaaggttccatcctccatgt	6	15	10	10	0	0	0	0	0	0	0	3	0	3	0	3	1	4	8	3	1	1	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.345C>A	p.Tyr115Ter	p.Y115*	ENST00000297623	3/7	247	213	34	214	214	0	strelka-varscan-mutect	C9orf24,stop_gained,p.Tyr115Ter,ENST00000297623,NM_032596.3;C9orf24,stop_gained,p.Tyr81Ter,ENST00000444429,;C9orf24,upstream_gene_variant,,ENST00000379133,NM_147168.1;C9orf24,upstream_gene_variant,,ENST00000379124,;C9orf24,upstream_gene_variant,,ENST00000379127,NM_001252195.1;C9orf24,upstream_gene_variant,,ENST00000379126,NM_147169.2;C9orf24,upstream_gene_variant,,ENST00000481295,;	T	ENST00000297623	Transcript	stop_gained	544/1151	345/789	115/262	Y/*	taC/taA		1		-1	C9orf24	HGNC	HGNC:19919	protein_coding	YES	CCDS6554.1	ENSP00000297623	Q8NCR6		UPI000006E5B3	NM_032596.3			3/7		Pfam_domain:PF15181,hmmpanther:PTHR35664,hmmpanther:PTHR35664:SF1																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	70	34382805	34382805	G	T	1	0	0	0	0	0	1	0	0	2180	1372	48	2		2	C9orf24	9	34382805	Nonsense_Mutation	SNP	G	C3N-01030_TP	1933889	34382805	104011912	389	22566											
UNC13B	0	.	GRCh38	chr9	35381132	35381132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaaatcagccgtctcagggGctatccgactacaaatcagt	13	8	8	12	2	3	0	3	0	1	0	5	1	4	0	2	2	2	1	2	2	4	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2161G>T	p.Ala721Ser	p.A721S	ENST00000378495	18/39	129	95	34	142	142	0	strelka-varscan-mutect	UNC13B,missense_variant,p.Ala3470Ser,ENST00000635942,;UNC13B,missense_variant,p.Ala1101Ser,ENST00000636694,;UNC13B,missense_variant,p.Ala308Ser,ENST00000617908,;UNC13B,missense_variant,p.Ala721Ser,ENST00000619578,;UNC13B,missense_variant,p.Ala721Ser,ENST00000378495,NM_006377.3;UNC13B,missense_variant,p.Ala733Ser,ENST00000396787,;UNC13B,missense_variant,p.Ala308Ser,ENST00000378496,;UNC13B,non_coding_transcript_exon_variant,,ENST00000637271,;UNC13B,3_prime_UTR_variant,,ENST00000634487,;	T	ENST00000378495	Transcript	missense_variant	2383/6303	2161/4776	721/1591	A/S	Gct/Tct		1		1	UNC13B	HGNC	HGNC:12566	protein_coding	YES	CCDS6579.1	ENSP00000367756	O14795		UPI0000211336	NM_006377.3	deleterious(0.02)		18/39		Gene3D:2.60.40.150,hmmpanther:PTHR10480,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	35381132	35381132	G	T	1	0	0	0	0	1	0	0	0	17509	1203	42	2		2	UNC13B	9	35381132	Missense_Mutation	SNP	G	C3N-01030_TP	998327	35381132	103013585	390	22567											
CA9	0	.	GRCh38	chr9	35676079	35676079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtgcaactgaccctgcCtcctgggctagagatggctc	7	8	12	14	1	0	2	0	1	0	1	2	3	1	2	3	2	3	4	3	2	2	1	rs771400520		C3N-01030_TP	C3N-01030_NB	C	C																c.620C>A	p.Pro207His	p.P207H	ENST00000378357	4/11	187	162	25	159	159	0	strelka-varscan-mutect	CA9,missense_variant,p.Pro207His,ENST00000378357,NM_001216.2;CA9,missense_variant,p.Pro207His,ENST00000617161,;RN7SL22P,downstream_gene_variant,,ENST00000471800,;CA9,upstream_gene_variant,,ENST00000493245,;CA9,upstream_gene_variant,,ENST00000485665,;ARHGEF39,upstream_gene_variant,,ENST00000490638,;	A	ENST00000378357	Transcript	missense_variant	724/1618	620/1380	207/459	P/H	cCt/cAt	rs771400520	1		1	CA9	HGNC	HGNC:1383	protein_coding	YES	CCDS6585.1	ENSP00000367608	Q16790	A0A0S2Z3D0	UPI000013E02C	NM_001216.2	deleterious(0)		4/11		Gene3D:3.10.200.10,Pfam_domain:PF00194,PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF18,SMART_domains:SM01057,Superfamily_domains:SSF51069																	MODERATE	1	SNV	1			1										PASS		rs771400520	.												A	3	1	70	35676079	35676079	C	A	1	0	0	0	0	1	0	0	0	2210	681	24	2		2	CA9	9	35676079	Missense_Mutation	SNP	C	C3N-01030_TP	294947	35676079	102718638	391	22568											
SPATA31A1	0	.	GRCh38	chr9	39360715	39360715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatggtttcgaggctccaGggaccagcaaaagctctcta	10	9	11	11	1	1	0	0	0	1	0	4	2	2	1	2	3	3	5	2	3	3	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2992G>A	p.Gly998Arg	p.G998R	ENST00000377647	4/4	471	355	116	549	549	0	strelka-varscan-mutect	SPATA31A1,missense_variant,p.Gly998Arg,ENST00000377647,NM_001085452.2;RP11-347J14.4,non_coding_transcript_exon_variant,,ENST00000615174,;SPATA31A1,downstream_gene_variant,,ENST00000473440,;	A	ENST00000377647	Transcript	missense_variant	3012/4256	2992/4086	998/1361	G/R	Ggg/Agg		1		1	SPATA31A1	HGNC	HGNC:23394	protein_coding	YES	CCDS43808.2	ENSP00000366875		A0A0R4J2F1	UPI0001AE6DFD	NM_001085452.2	tolerated(0.83)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		rs1240994635	.												A	3	1	70	39360715	39360715	G	A	1	0	0	0	0	1	0	0	0	15343	1000	35	3		3	SPATA31A1	9	39360715	Missense_Mutation	SNP	G	C3N-01030_TP	3684636	39360715	99034002	392	22569											
SPATA31A3	0	.	GRCh38	chr9	66988662	66988662	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggatccttcccaggttGccccagtgttggatgatcca	6	13	10	12	0	1	1	0	1	1	0	4	3	4	3	5	3	1	2	5	3	0	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1836C>A	p.=	p.G612G	ENST00000428649	4/4	336	259	77	351	351	0	strelka-varscan-mutect	SPATA31A3,synonymous_variant,p.=,ENST00000428649,NM_001083124.1;RP11-395E19.2,downstream_gene_variant,,ENST00000616253,;	T	ENST00000428649	Transcript	synonymous_variant	1898/4256	1836/4044	612/1347	G	ggC/ggA		1		-1	SPATA31A3	HGNC	HGNC:32003	protein_coding	YES	CCDS78400.1	ENSP00000485118	Q5VYP0		UPI00004588FC	NM_001083124.1			4/4		Pfam_domain:PF14650,hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	LOW	1	SNV	1			1										PASS		rs1294389865	.												T	2	4	70	66988662	66988662	G	T	1	0	0	0	0	0	0	0	1	15344	1306	46	2		2	SPATA31A3	9	66988662	Silent	SNP	G	C3N-01030_TP	27627947	66988662	71406055	393	22570											
PGM5	0	.	GRCh38	chr9	68392462	68392462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagtatgccaaccagcatGgccctggacaggtaagcaag	13	5	13	10	0	0	0	0	0	0	0	0	2	0	2	3	4	4	4	3	4	4	2	rs782775578		C3N-01030_TP	C3N-01030_NB	G	G																c.1032G>T	p.Met344Ile	p.M344I	ENST00000396396	6/11	162	143	19	125	125	0	varscan-mutect	PGM5,missense_variant,p.Met344Ile,ENST00000396396,NM_021965.3;PGM5,missense_variant,p.Met344Ile,ENST00000396392,;PGM5,downstream_gene_variant,,ENST00000431583,;RP11-88I18.2,downstream_gene_variant,,ENST00000590767,;RP11-88I18.2,downstream_gene_variant,,ENST00000629161,;RP11-88I18.2,downstream_gene_variant,,ENST00000629181,;PGM5,non_coding_transcript_exon_variant,,ENST00000604870,;PGM5,upstream_gene_variant,,ENST00000587852,;	T	ENST00000396396	Transcript	missense_variant	1261/3338	1032/1704	344/567	M/I	atG/atT	rs782775578	1		1	PGM5	HGNC	HGNC:8908	protein_coding	YES	CCDS6622.2	ENSP00000379678	Q15124		UPI0000210ABF	NM_021965.3	tolerated(0.1)		6/11		Gene3D:3.40.120.10,Pfam_domain:PF02880,hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF27,Superfamily_domains:SSF53738																	MODERATE	1	SNV	2			1										PASS		rs782775578	.												T	3	4	70	68392462	68392462	G	T	1	0	0	0	0	1	0	0	0	11890	1348	47	2		2	PGM5	9	68392462	Missense_Mutation	SNP	G	C3N-01030_TP	1403800	68392462	70002255	394	22571											
ALDH1A1	0	.	GRCh38	chr9	72930938	72930938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtataatagtcgcccccTctcggaagcatccatagtac	10	11	7	13	2	1	0	0	0	1	0	4	1	2	1	3	1	2	3	3	1	6	6	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.253A>G	p.Arg85Gly	p.R85G	ENST00000297785	3/13	216	169	47	221	221	0	strelka-varscan-mutect	ALDH1A1,missense_variant,p.Arg85Gly,ENST00000297785,NM_000689.4;ALDH1A1,missense_variant,p.Arg85Gly,ENST00000376939,;ALDH1A1,missense_variant,p.Arg85Gly,ENST00000419959,;ALDH1A1,missense_variant,p.Arg85Gly,ENST00000446946,;ALDH1A1,non_coding_transcript_exon_variant,,ENST00000482210,;ALDH1A1,non_coding_transcript_exon_variant,,ENST00000493113,;	C	ENST00000297785	Transcript	missense_variant	308/2107	253/1506	85/501	R/G	Agg/Ggg		1		-1	ALDH1A1	HGNC	HGNC:402	protein_coding	YES	CCDS6644.1	ENSP00000297785	P00352	V9HW83	UPI0000000DC0	NM_000689.4	deleterious(0)		3/13		Gene3D:3.40.605.10,Pfam_domain:PF00171,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF140,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	72930938	72930938	T	C	1	0	0	0	0	1	0	0	0	590	1550	54	5		5	ALDH1A1	9	72930938	Missense_Mutation	SNP	T	C3N-01030_TP	4538476	72930938	65463779	395	22572											
C9orf40	0	.	GRCh38	chr9	74952595	74952595	+	Frame_Shift_Del	DEL	G	G	-																															ggaacgtcaccggctcggccGcacgccgcttggccatgggc																								novel		C3N-01030_TP	C3N-01030_NB	G	G																c.17delC	p.Ala6GlyfsTer5	p.A6Gfs*5	ENST00000376854	1/2	129	97	32	105	105	0	sindel-varindel-pindel	C9orf40,frameshift_variant,p.Ala6GlyfsTer5,ENST00000376854,NM_017998.2;C9orf41-AS1,upstream_gene_variant,,ENST00000455609,;	-	ENST00000376854	Transcript	frameshift_variant	292/2327	17/585	6/194	A/X	gCg/gg		1		-1	C9orf40	HGNC	HGNC:23433	protein_coding	YES	CCDS6648.1	ENSP00000366050	Q8IXQ3		UPI0000074360	NM_017998.2			1/2		PD309264,hmmpanther:PTHR16003,hmmpanther:PTHR16003:SF3																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	70	74952595	74952595	G	-	1	0	1	0	1	0	0	0	0	2182	1087	38	0		0	C9orf40	9	74952595	Frame_Shift_Del	DEL	G	C3N-01030_TP	2021657	74952595	63442122	396	22573											
PRUNE2	0	.	GRCh38	chr9	76707478	76707478	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttctctaaatccttcActttggtaactatttctact	8	21	3	9	0	3	0	1	0	2	0	5	0	4	0	1	1	2	2	1	1	5	9	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.4796T>A	p.Val1599Glu	p.V1599E	ENST00000376718	8/19	123	92	31	156	155	1	strelka-varscan-mutect	PRUNE2,missense_variant,p.Val1599Glu,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Val1240Glu,ENST00000428286,;PRUNE2,missense_variant,p.Val1599Glu,ENST00000443509,NM_001308047.1,NM_001308048.1;PRUNE2,missense_variant,p.Val921Glu,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;	T	ENST00000376718	Transcript	missense_variant	4920/12584	4796/9267	1599/3088	V/E	gTg/gAg		1		-1	PRUNE2	HGNC	HGNC:25209	protein_coding	YES	CCDS47982.1	ENSP00000365908	Q8WUY3		UPI0001612CC0	NM_015225.2	tolerated(0.24)		8/19																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	76707478	76707478	A	T	1	0	0	0	0	1	0	0	0	12791	159	6	4		4	PRUNE2	9	76707478	Missense_Mutation	SNP	A	C3N-01030_TP	1754883	76707478	61687239	397	22574											
AGTPBP1	0	.	GRCh38	chr9	85575445	85575445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaaattttgctcccatctCttccagttctcgggtaccaa	10	13	5	13	1	2	0	0	0	2	0	6	0	4	0	3	1	2	3	3	1	4	5			C3N-01030_TP	C3N-01030_NB	C	C																c.3529G>A	p.Glu1177Lys	p.E1177K	ENST00000337006	24/25	210	186	24	268	268	0	strelka-varscan-mutect	AGTPBP1,missense_variant,p.Glu1177Lys,ENST00000337006,NM_001286715.1;AGTPBP1,missense_variant,p.Glu1125Lys,ENST00000357081,;AGTPBP1,missense_variant,p.Glu1137Lys,ENST00000628899,NM_001286717.1;AGTPBP1,missense_variant,p.Glu1085Lys,ENST00000376083,NM_015239.2;AGTPBP1,non_coding_transcript_exon_variant,,ENST00000489265,;	T	ENST00000337006	Transcript	missense_variant	3596/4473	3529/3837	1177/1278	E/K	Gag/Aag	COSM422328,COSM4811627	1		-1	AGTPBP1	HGNC	HGNC:17258	protein_coding	YES	CCDS75854.1	ENSP00000338512		J3KNS1	UPI000387D56E	NM_001286715.1	deleterious(0)		24/25		hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF24,Superfamily_domains:SSF53187											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	70	85575445	85575445	C	T	1	0	0	0	0	1	0	0	0	479	922	32	3		3	AGTPBP1	9	85575445	Missense_Mutation	SNP	C	C3N-01030_TP	8867967	85575445	52819272	398	22575											
ECM2	0	.	GRCh38	chr9	92505588	92505588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatttattttttcccagaCgcaagtaggctaggctcttc	10	15	7	9	1	1	1	0	0	1	1	3	1	2	1	1	2	0	4	1	2	6	9	rs763096769		C3N-01030_TP	C3N-01030_NB	C	C																c.1409G>A	p.Arg470His	p.R470H	ENST00000344604	7/10	147	112	35	205	205	0	strelka-varscan-mutect	ECM2,missense_variant,p.Arg470His,ENST00000344604,NM_001197295.1,NM_001393.3;ECM2,missense_variant,p.Arg448His,ENST00000444490,NM_001197296.1;CENPP,intron_variant,,ENST00000375587,NM_001012267.2;	T	ENST00000344604	Transcript	missense_variant	1559/3253	1409/2100	470/699	R/H	cGt/cAt	rs763096769,COSM3908895,COSM3908896	1		-1	ECM2	HGNC	HGNC:3154	protein_coding	YES	CCDS6698.1	ENSP00000344758	O94769		UPI0000129B80	NM_001197295.1,NM_001393.3	deleterious(0.02)		7/10		Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF134,SMART_domains:SM00369,Superfamily_domains:SSF52047											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs763096769	.												T	3	4	70	92505588	92505588	C	T	1	0	0	0	0	1	0	0	0	4726	536	19	1		1	ECM2	9	92505588	Missense_Mutation	SNP	C	C3N-01030_TP	6930143	92505588	45889129	399	22576											
WNK2	0	.	GRCh38	chr9	93234827	93234827	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtactcccgagttcatggcGcccgagatgtacgaggagca	9	7	14	11	4	1	1	1	0	0	1	2	5	2	2	2	3	3	4	2	3	2	3	rs550073972		C3N-01030_TP	C3N-01030_NB	G	G																c.1095G>T	p.=	p.A365A	ENST00000297954	4/30	80	63	17	76	76	0	strelka-varscan-mutect	WNK2,synonymous_variant,p.=,ENST00000432730,;WNK2,synonymous_variant,p.=,ENST00000297954,NM_001282394.1;WNK2,synonymous_variant,p.=,ENST00000395477,NM_006648.3;WNK2,synonymous_variant,p.=,ENST00000448039,;WNK2,5_prime_UTR_variant,,ENST00000427277,;WNK2,upstream_gene_variant,,ENST00000411624,;	T	ENST00000297954	Transcript	synonymous_variant	1095/7138	1095/6894	365/2297	A	gcG/gcT	rs550073972,COSM3908977,COSM3908978,COSM3908979	1		1	WNK2	HGNC	HGNC:14542	protein_coding	YES	CCDS75858.1	ENSP00000297954	Q9Y3S1		UPI0000236D76	NM_001282394.1			4/30		PROSITE_profiles:PS50011,hmmpanther:PTHR13902:SF10,hmmpanther:PTHR13902,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs550073972	.												T	2	4	70	93234827	93234827	G	T	1	0	0	0	0	0	0	0	1	17934	1074	38	1		1	WNK2	9	93234827	Silent	SNP	G	C3N-01030_TP	729239	93234827	45159890	400	22577											
PTPDC1	0	.	GRCh38	chr9	94101629	94101629	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagagggaccctttcatcCtatgcagcttgatgtggtct	7	12	12	10	1	2	2	1	1	1	1	3	4	3	3	2	2	2	2	2	2	1	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2077C>G	p.Leu693Val	p.L693V	ENST00000620992	7/9	182	149	33	167	167	0	strelka-varscan-mutect	PTPDC1,missense_variant,p.Leu639Val,ENST00000375360,NM_177995.2,NM_001253830.1;PTPDC1,missense_variant,p.Leu693Val,ENST00000620992,NM_001253829.1;PTPDC1,missense_variant,p.Leu691Val,ENST00000288976,NM_152422.4;PTPDC1,non_coding_transcript_exon_variant,,ENST00000467049,;	G	ENST00000620992	Transcript	missense_variant	2179/4437	2077/2427	693/808	L/V	Cta/Gta		1		1	PTPDC1	HGNC	HGNC:30184	protein_coding	YES	CCDS75860.1	ENSP00000477817		A0A087WTF0	UPI0000E0BDFA	NM_001253829.1	deleterious(0)		7/9		hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF72																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	70	94101629	94101629	C	G	1	0	0	0	0	1	0	0	0	12930	680	24	4		4	PTPDC1	9	94101629	Missense_Mutation	SNP	C	C3N-01030_TP	866802	94101629	44293088	401	22578											
TDRD7	0	.	GRCh38	chr9	97464846	97464847	+	Frame_Shift_Ins	INS	-	-	T																															ttttaactgattcaggtatgINStgggcaaagactattctgct																								novel		C3N-01030_TP	C3N-01030_NB	-	-																c.1448dupT	p.Lys485GlnfsTer13	p.K485Qfs*13	ENST00000355295	8/17	253	191	62	277	277	0	sindel-varindel-pindel	TDRD7,frameshift_variant,p.Lys485GlnfsTer13,ENST00000355295,NM_001302884.1,NM_014290.2;	T	ENST00000355295	Transcript	frameshift_variant	1742-1743/3834	1447-1448/3297	483/1098	V/VX	gtg/gTtg		1		1	TDRD7	HGNC	HGNC:30831	protein_coding	YES	CCDS6725.1	ENSP00000347444	Q8NHU6		UPI00002114B5	NM_001302884.1,NM_014290.2			8/17		hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF14,Pfam_domain:PF00567																	HIGH	1	insertion	1	1		1										PASS		.	.												T	7	5	70	97464846	97464846	-	T	1	0	1	1	0	0	0	0	0	16145	1391	48	0		0	TDRD7	9	97464846	Frame_Shift_Ins	INS	-	C3N-01030_TP	3363217	97464846	40929871	402	22579											
OR13C4	0	.	GRCh38	chr9	104526340	104526340	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatagattatggggtttaaCatgggggtcacaaccccata	12	11	10	8	0	1	1	1	0	0	1	1	1	1	1	2	4	2	1	2	4	6	6	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.870G>T	p.Met290Ile	p.M290I	ENST00000277216	1/1	105	78	27	110	110	0	strelka-varscan-mutect	OR13C4,missense_variant,p.Met290Ile,ENST00000277216,NM_001001919.1;RP11-317C20.9,intron_variant,,ENST00000635678,;	A	ENST00000277216	Transcript	missense_variant	870/957	870/957	290/318	M/I	atG/atT		1		-1	OR13C4	HGNC	HGNC:14722	protein_coding	YES	CCDS35088.1	ENSP00000277216	Q8NGS5	A0A126GVC9	UPI0000041B46	NM_001001919.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF14,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												A	3	1	70	104526340	104526340	C	A	1	0	0	0	0	1	0	0	0	11012	478	17	2		2	OR13C4	9	104526340	Missense_Mutation	SNP	C	C3N-01030_TP	7061494	104526340	33868377	403	22580											
AKNA	0	.	GRCh38	chr9	114341561	114341561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtggataaggcatgatggGaaccgaggagatgtaggcaa	14	6	17	4	1	0	2	0	1	0	1	0	6	0	4	1	6	1	3	1	6	4	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.4039C>T	p.Pro1347Ser	p.P1347S	ENST00000307564	21/22	221	178	43	182	182	0	strelka-varscan-mutect	AKNA,missense_variant,p.Pro1347Ser,ENST00000307564,NM_030767.4;AKNA,missense_variant,p.Pro1347Ser,ENST00000374088,NM_001317950.1,NM_001317952.1;AKNA,missense_variant,p.Pro1266Ser,ENST00000374075,;AKNA,missense_variant,p.Pro807Ser,ENST00000223791,;AKNA,missense_variant,p.Pro292Ser,ENST00000374079,;AKNA,non_coding_transcript_exon_variant,,ENST00000492875,;	A	ENST00000307564	Transcript	missense_variant	4201/7380	4039/4320	1347/1439	P/S	Ccc/Tcc		1		-1	AKNA	HGNC	HGNC:24108	protein_coding	YES	CCDS6805.1	ENSP00000303769	Q7Z591		UPI000021168C	NM_030767.4	deleterious(0)		21/22		hmmpanther:PTHR21510:SF15,hmmpanther:PTHR21510																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	114341561	114341561	G	A	1	0	0	0	0	1	0	0	0	547	1174	41	3		3	AKNA	9	114341561	Missense_Mutation	SNP	G	C3N-01030_TP	9815221	114341561	24053156	404	22581											
BRINP1	0	.	GRCh38	chr9	119313224	119313224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggtggaaaggccccctGtctgaaatgagccaatcaaa	13	7	12	9	0	2	2	1	2	1	0	2	4	2	3	3	3	1	0	3	3	4	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.132C>G	p.Asp44Glu	p.D44E	ENST00000265922	2/8	282	216	66	287	287	0	strelka-varscan-mutect	BRINP1,missense_variant,p.Asp44Glu,ENST00000265922,NM_014618.2;BRINP1,missense_variant,p.Asp44Glu,ENST00000373964,;	C	ENST00000265922	Transcript	missense_variant	594/3202	132/2286	44/761	D/E	gaC/gaG		1		-1	BRINP1	HGNC	HGNC:2687	protein_coding	YES	CCDS6822.1	ENSP00000265922	O60477		UPI000013D6A7	NM_014618.2	tolerated(0.1)		2/8		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF7																	MODERATE	1	SNV	1			1										PASS		rs1366967570	.												C	3	2	70	119313224	119313224	G	C	1	0	0	0	0	1	0	0	0	1685	1368	48	4		4	BRINP1	9	119313224	Missense_Mutation	SNP	G	C3N-01030_TP	4971663	119313224	19081493	405	22582											
OR1N2	0	.	GRCh38	chr9	122553858	122553858	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcactgttcccctcctgcTgatcgtcttctcctatgtcc	3	15	5	18	1	3	1	1	1	2	0	8	1	6	1	6	0	1	2	6	0	1	3	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.689T>A	p.Leu230Gln	p.L230Q	ENST00000373688	1/1	246	186	60	208	208	0	strelka-varscan-mutect	OR1N2,missense_variant,p.Leu230Gln,ENST00000373688,NM_001004457.1;OR1N2,missense_variant,p.Leu212Gln,ENST00000616791,;	A	ENST00000373688	Transcript	missense_variant	747/1103	689/993	230/330	L/Q	cTg/cAg		1		1	OR1N2	HGNC	HGNC:15111	protein_coding	YES	CCDS35123.1	ENSP00000362792	Q8NGR9		UPI000004618C	NM_001004457.1	tolerated(0.08)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF156,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	70	122553858	122553858	T	A	1	0	0	0	0	1	0	0	0	11048	1580	55	4		4	OR1N2	9	122553858	Missense_Mutation	SNP	T	C3N-01030_TP	3240634	122553858	15840859	406	22583											
GAPVD1	0	.	GRCh38	chr9	125360691	125360691	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtccctggagcggatgActttgttcctgtgttggtgt	3	16	13	9	1	1	1	0	1	1	0	3	3	3	3	2	3	1	2	2	3	0	3	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.4289A>T	p.Asp1430Val	p.D1430V	ENST00000394105	26/27	217	170	47	196	196	0	strelka-varscan-mutect	GAPVD1,missense_variant,p.Asp1376Val,ENST00000470056,;GAPVD1,missense_variant,p.Asp1421Val,ENST00000394104,;GAPVD1,missense_variant,p.Asp1403Val,ENST00000297933,NM_001282680.1;GAPVD1,missense_variant,p.Asp1421Val,ENST00000495955,NM_001282679.1;GAPVD1,missense_variant,p.Asp1430Val,ENST00000394105,NM_015635.3;GAPVD1,missense_variant,p.Asp1355Val,ENST00000394083,;GAPVD1,missense_variant,p.Asp1382Val,ENST00000312123,NM_001282681.1;GAPVD1,non_coding_transcript_exon_variant,,ENST00000474637,;GAPVD1,downstream_gene_variant,,ENST00000467707,;	T	ENST00000394105	Transcript	missense_variant	4449/5207	4289/4464	1430/1487	D/V	gAc/gTc		1		1	GAPVD1	HGNC	HGNC:23375	protein_coding	YES	CCDS35138.1	ENSP00000377665	Q14C86	A0A024R8A2	UPI00001D76F1	NM_015635.3	deleterious(0)		26/27		PROSITE_profiles:PS51205,hmmpanther:PTHR23101:SF68,hmmpanther:PTHR23101,Pfam_domain:PF02204,SMART_domains:SM00167,Superfamily_domains:0044157																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	125360691	125360691	A	T	1	0	0	0	0	1	0	0	0	6107	275	10	4		4	GAPVD1	9	125360691	Missense_Mutation	SNP	A	C3N-01030_TP	2806833	125360691	13034026	407	22584											
TTC16	0	.	GRCh38	chr9	127724797	127724797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctggcctttgccgaggcgGactaccagcaggcgctggcg	6	6	15	14	4	0	0	0	0	0	0	0	2	0	1	4	5	3	2	4	5	1	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1159G>T	p.Asp387Tyr	p.D387Y	ENST00000373289	9/14	260	212	48	169	169	0	strelka-varscan-mutect	TTC16,missense_variant,p.Asp387Tyr,ENST00000373289,NM_144965.1;PTRH1,5_prime_UTR_variant,,ENST00000419060,;PTRH1,non_coding_transcript_exon_variant,,ENST00000429848,;TTC16,non_coding_transcript_exon_variant,,ENST00000488285,;TTC16,intron_variant,,ENST00000489226,;	T	ENST00000373289	Transcript	missense_variant	1239/2897	1159/2622	387/873	D/Y	Gac/Tac		1		1	TTC16	HGNC	HGNC:26536	protein_coding	YES	CCDS6875.1	ENSP00000362386	Q8NEE8		UPI000006FE14	NM_144965.1	deleterious(0)		9/14		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR23083:SF438,hmmpanther:PTHR23083,Gene3D:1.25.40.10,Pfam_domain:PF00515,SMART_domains:SM00028,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	127724797	127724797	G	T	1	0	0	0	0	1	0	0	0	17192	1174	41	2		2	TTC16	9	127724797	Missense_Mutation	SNP	G	C3N-01030_TP	2364106	127724797	10669920	408	22585											
HMCN2	0	.	GRCh38	chr9	130285288	130285288	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaagaaggaagagctgcTgcggctcctgcagctcaagc	11	6	12	12	1	2	2	2	0	0	2	3	3	3	3	1	2	6	5	1	2	4	0	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.458T>A	p.Leu153Gln	p.L153Q	ENST00000624552	3/98	173	133	40	127	127	0	strelka-varscan-mutect	HMCN2,missense_variant,p.Leu153Gln,ENST00000624552,NM_001291815.1;	A	ENST00000624552	Transcript	missense_variant	458/15610	458/15180	153/5059	L/Q	cTg/cAg		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	deleterious(0.01)		3/98		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25,Low_complexity_(Seg):seg,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	130285288	130285288	T	A	1	0	0	0	0	1	0	0	0	7112	1580	55	4		4	HMCN2	9	130285288	Missense_Mutation	SNP	T	C3N-01030_TP	2560491	130285288	8109429	409	22586											
FIBCD1	0	.	GRCh38	chr9	130905259	130905259	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccggaatagtcagccacGgtgagcgggtacccgtcttc	7	8	14	12	4	2	1	1	1	1	0	3	2	2	2	3	3	4	1	3	3	3	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1101C>A	p.=	p.T367T	ENST00000372338	6/7	130	96	34	101	101	0	strelka-varscan-mutect	FIBCD1,synonymous_variant,p.=,ENST00000372338,NM_032843.4;FIBCD1,synonymous_variant,p.=,ENST00000448616,NM_001145106.1;FIBCD1,synonymous_variant,p.=,ENST00000372337,;FIBCD1,intron_variant,,ENST00000444139,;	T	ENST00000372338	Transcript	synonymous_variant	1344/3253	1101/1386	367/461	T	acC/acA		1		-1	FIBCD1	HGNC	HGNC:25922	protein_coding	YES	CCDS6937.1	ENSP00000361413	Q8N539		UPI0000049DF9	NM_032843.4			6/7		PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF239,Gene3D:3.90.215.10,Pfam_domain:PF00147,SMART_domains:SM00186,Superfamily_domains:SSF56496																	LOW	1	SNV	1			1										PASS		rs1386838057	.												T	2	4	70	130905259	130905259	G	T	1	0	0	0	0	0	0	0	1	5749	1103	39	1		1	FIBCD1	9	130905259	Silent	SNP	G	C3N-01030_TP	619971	130905259	7489458	410	22587											
TTF1	0	.	GRCh38	chr9	132402479	132402479	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctaaaatgctttggtgTgttgttaatattttctttat	8	23	6	4	0	2	0	0	0	2	0	2	0	2	0	0	1	1	3	0	1	5	10	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.343A>G	p.Thr115Ala	p.T115A	ENST00000334270	2/11	170	124	46	200	200	0	strelka-varscan-mutect	TTF1,missense_variant,p.Thr115Ala,ENST00000334270,NM_007344.3;TTF1,intron_variant,,ENST00000612514,NM_001205296.1;	C	ENST00000334270	Transcript	missense_variant	383/3052	343/2718	115/905	T/A	Aca/Gca		1		-1	TTF1	HGNC	HGNC:12397	protein_coding	YES	CCDS6948.1	ENSP00000333920	Q15361	A0A024R8C1	UPI00001B55A7	NM_007344.3	tolerated(0.14)		2/11																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	132402479	132402479	T	C	1	0	0	0	0	1	0	0	0	17228	1696	59	5		5	TTF1	9	132402479	Missense_Mutation	SNP	T	C3N-01030_TP	1497220	132402479	5992238	411	22588											
VAV2	0	.	GRCh38	chr9	133791781	133791781	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagagtcagtctcactcAccaaattttctatagaactc	13	12	5	11	0	4	3	3	1	2	2	6	3	4	3	1	0	1	0	1	0	5	4	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.1188+2T>G		p.X396_splice	ENST00000371850		172	132	40	151	151	0	strelka-varscan-mutect	VAV2,splice_donor_variant,,ENST00000371851,;VAV2,splice_donor_variant,,ENST00000371850,NM_001134398.1;VAV2,splice_donor_variant,,ENST00000406606,NM_003371.3;	C	ENST00000371850	Transcript	splice_donor_variant	-/4837	1188/2637	396/878				1		-1	VAV2	HGNC	HGNC:12658	protein_coding	YES	CCDS48053.1	ENSP00000360916	P52735		UPI000013E06E	NM_001134398.1				13/29																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	70	133791781	133791781	A	C	1	0	0	0	0	0	0	1	0	17677	173	6	5		5	VAV2	9	133791781	Splice_Site	SNP	A	C3N-01030_TP	1389302	133791781	4602936	412	22589											
PPP1R26	0	.	GRCh38	chr9	135487950	135487950	+	Frame_Shift_Del	DEL	G	G	-																															cggcggcccctggccaaccaGgaaggcacaggcagggctga																								novel		C3N-01030_TP	C3N-01030_NB	G	G																c.3441delG	p.Lys1148ArgfsTer6	p.K1148Rfs*6	ENST00000356818	4/4	56	41	15	40	40	0	sindel-varindel-pindel	PPP1R26,frameshift_variant,p.Lys1148ArgfsTer6,ENST00000356818,NM_014811.3;PPP1R26,frameshift_variant,p.Lys1148ArgfsTer6,ENST00000401470,;PPP1R26,frameshift_variant,p.Lys1148ArgfsTer6,ENST00000605286,;PPP1R26,frameshift_variant,p.Lys1148ArgfsTer6,ENST00000604351,;PPP1R26,frameshift_variant,p.Lys1148ArgfsTer6,ENST00000605660,;PPP1R26,intron_variant,,ENST00000602993,;	-	ENST00000356818	Transcript	frameshift_variant	3989/4932	3440/3630	1147/1209	R/X	aGg/ag		1		1	PPP1R26	HGNC	HGNC:29089	protein_coding	YES	CCDS6988.1	ENSP00000349274	Q5T8A7		UPI000013DB17	NM_014811.3			4/4		hmmpanther:PTHR15724																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	70	135487950	135487950	G	-	1	0	1	0	1	0	0	0	0	12484	1000	35	0		0	PPP1R26	9	135487950	Frame_Shift_Del	DEL	G	C3N-01030_TP	1696169	135487950	2906767	413	22590											
PFKP	0	.	GRCh38	chr10	3113501	3113501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatctatgatggctttgacGgcttcgccaagggccaggtg	7	10	13	11	2	1	2	0	2	1	0	2	2	1	2	3	4	0	2	3	4	2	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1354G>T	p.Gly452Cys	p.G452C	ENST00000381125	13/22	144	113	31	126	126	0	strelka-varscan-mutect	PFKP,missense_variant,p.Gly444Cys,ENST00000381075,NM_001242339.1;PFKP,missense_variant,p.Gly452Cys,ENST00000381125,NM_001323069.1,NM_001323067.1,NM_002627.4;PFKP,missense_variant,p.Gly236Cys,ENST00000415005,;PFKP,missense_variant,p.Gly16Cys,ENST00000413079,;PFKP,downstream_gene_variant,,ENST00000468050,;	T	ENST00000381125	Transcript	missense_variant	1430/2654	1354/2355	452/784	G/C	Ggc/Tgc		1		1	PFKP	HGNC	HGNC:8878	protein_coding	YES	CCDS7059.1	ENSP00000370517	Q01813		UPI00000012D2	NM_001323069.1,NM_001323067.1,NM_002627.4	deleterious(0)		13/22		Gene3D:3.40.50.450,HAMAP:MF_03184,Pfam_domain:PF00365,PIRSF_domain:PIRSF000533,hmmpanther:PTHR13697,hmmpanther:PTHR13697:SF5,Superfamily_domains:SSF53784,TIGRFAM_domain:TIGR02478																	MODERATE	1	SNV	1			1										PASS		rs1446950087	.												T	3	4	70	3113501	3113501	G	T	1	0	0	0	0	1	0	0	0	11856	1116	39	1		1	PFKP	10	3113501	Missense_Mutation	SNP	G	C3N-01030_TP		3113501	130683921	414	22591											
SFMBT2	0	.	GRCh38	chr10	7200437	7200437	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgtccaggtgagggaatAaacaaaggtcatgaggtatt	13	10	14	4	0	1	2	1	2	0	0	2	3	2	3	1	5	1	1	1	5	5	3	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.1535T>A	p.Leu512Ter	p.L512*	ENST00000397167	14/21	59	48	11	77	77	0	strelka-varscan-mutect	SFMBT2,stop_gained,p.Leu512Ter,ENST00000397167,NM_001029880.2;SFMBT2,stop_gained,p.Leu512Ter,ENST00000361972,NM_001018039.1;	T	ENST00000397167	Transcript	stop_gained	1728/8024	1535/2685	512/894	L/*	tTa/tAa		1		-1	SFMBT2	HGNC	HGNC:20256	protein_coding	YES	CCDS31138.1	ENSP00000380353	Q5VUG0		UPI00001C1EDF	NM_001029880.2			14/21		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62,Superfamily_domains:SSF63748																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	70	7200437	7200437	A	T	1	0	0	0	0	0	1	0	0	14436	372	13	4		4	SFMBT2	10	7200437	Nonsense_Mutation	SNP	A	C3N-01030_TP	4086936	7200437	126596985	415	22592											
TAF3	0	.	GRCh38	chr10	7964948	7964948	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtacgtaaagcaaaactgGgaacaccttcaaatatgccc	15	9	7	10	1	1	0	1	0	0	0	1	1	1	1	2	1	5	3	2	1	8	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1438G>T	p.Gly480Ter	p.G480*	ENST00000344293	3/7	334	263	71	294	291	3	strelka-varscan-mutect	TAF3,stop_gained,p.Gly480Ter,ENST00000344293,NM_031923.3;	T	ENST00000344293	Transcript	stop_gained	1644/4872	1438/2790	480/929	G/*	Gga/Tga		1		1	TAF3	HGNC	HGNC:17303	protein_coding	YES	CCDS41487.1	ENSP00000340271	Q5VWG9		UPI00004588FA	NM_031923.3			3/7																			HIGH	1	SNV	2			1										PASS		.	.												T	4	4	70	7964948	7964948	G	T	1	0	0	0	0	0	1	0	0	15921	1233	43	2		2	TAF3	10	7964948	Nonsense_Mutation	SNP	G	C3N-01030_TP	764511	7964948	125832474	416	22593											
ITGA8	0	.	GRCh38	chr10	15613660	15613660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaccggactaactcacCaggcagcagatgtcatagag	14	5	11	11	1	2	2	2	0	0	2	2	4	2	3	2	2	3	3	2	2	3	2	rs186867501		C3N-01030_TP	C3N-01030_NB	C	C																c.1553G>T	p.Cys518Phe	p.C518F	ENST00000378076	15/30	88	64	24	88	88	0	strelka-varscan-mutect	ITGA8,missense_variant,p.Cys518Phe,ENST00000378076,NM_003638.2,NM_001291494.1;ITGA8,non_coding_transcript_exon_variant,,ENST00000468882,;	A	ENST00000378076	Transcript	missense_variant,splice_region_variant	1907/6755	1553/3192	518/1063	C/F	tGc/tTc	rs186867501	1		-1	ITGA8	HGNC	HGNC:6144	protein_coding	YES	CCDS31155.1	ENSP00000367316	P53708		UPI00001D80A0	NM_003638.2,NM_001291494.1	deleterious(0.01)		15/30		Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		rs186867501	.												A	3	1	70	15613660	15613660	C	A	1	0	0	0	0	1	0	0	0	7789	608	21	2		2	ITGA8	10	15613660	Missense_Mutation	SNP	C	C3N-01030_TP	7648712	15613660	118183762	417	22594											
CUBN	0	.	GRCh38	chr10	16840363	16840363	+	Frame_Shift_Del	DEL	C	C	-																															tgaagctgtaagtaattctgCgtgcagtcttgcgaggtcag																								rs374885106		C3N-01030_TP	C3N-01030_NB	C	C																c.9999delG	p.Gln3334ArgfsTer35	p.Q3334Rfs*35	ENST00000377833	62/67	216	156	60	241	241	0	sindel-varindel-pindel	CUBN,frameshift_variant,p.Gln3334ArgfsTer35,ENST00000377833,NM_001081.3;	-	ENST00000377833	Transcript	frameshift_variant	10065/11949	9999/10872	3333/3623	T/X	acG/ac	rs374885106	1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3			62/67		PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	70	16840363	16840363	C	-	1	0	1	0	1	0	0	0	0	3861	755	27	0		0	CUBN	10	16840363	Frame_Shift_Del	DEL	C	C3N-01030_TP	1226703	16840363	116957059	418	22595											
MRC1	0	.	GRCh38	chr10	17861444	17861444	+	Frame_Shift_Del	DEL	G	G	-																															gacatacgctttcaacatttGcagaagcaaaccaaacctgt																								novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1576delG	p.Ala526GlnfsTer14	p.A526Qfs*14	ENST00000569591	10/30	224	179	45	332	332	0	sindel-varindel-pindel	MRC1,frameshift_variant,p.Ala526GlnfsTer14,ENST00000569591,NM_002438.3;RP11-457D2.3,downstream_gene_variant,,ENST00000442231,;	-	ENST00000569591	Transcript	frameshift_variant	1698/5198	1576/4371	526/1456	A/X	Gca/ca		1		1	MRC1	HGNC	HGNC:7228	protein_coding	YES	CCDS7123.2	ENSP00000455897	P22897		UPI000012EB9A	NM_002438.3			10/30		PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF73,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	70	17861444	17861444	G	-	1	0	1	0	1	0	0	0	0	9722	1319	46	0		0	MRC1	10	17861444	Frame_Shift_Del	DEL	G	C3N-01030_TP	1021081	17861444	115935978	419	22596											
MYO3A	0	.	GRCh38	chr10	26176843	26176843	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctcagcagtgcctctCaggtaaaaatcagtagagtt	11	13	8	9	0	4	1	3	0	3	1	6	1	4	1	1	1	2	4	1	1	4	5			C3N-01030_TP	C3N-01030_NB	C	C																c.4436C>A	p.Ser1479Ter	p.S1479*	ENST00000265944	31/35	265	204	61	309	309	0	strelka-varscan-mutect	MYO3A,stop_gained,p.Ser1479Ter,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;	A	ENST00000265944	Transcript	stop_gained,splice_region_variant	4602/5581	4436/4851	1479/1616	S/*	tCa/tAa	COSM5334824	1		1	MYO3A	HGNC	HGNC:7601	protein_coding	YES	CCDS7148.1	ENSP00000265944	Q8NEV4		UPI000014140A	NM_017433.4			31/35													1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	70	26176843	26176843	C	A	1	0	0	0	0	0	1	0	0	10077	840	29	2		2	MYO3A	10	26176843	Nonsense_Mutation	SNP	C	C3N-01030_TP	8315399	26176843	107620579	420	22597											
ANKRD26	0	.	GRCh38	chr10	27060348	27060348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatattgcaacatttacctgCtttggatgtttgtacatcct	9	18	6	8	0	0	0	0	0	0	0	1	1	1	1	2	1	5	4	2	1	5	8	rs376035947		C3N-01030_TP	C3N-01030_NB	C	C																c.1561G>T	p.Ala521Ser	p.A521S	ENST00000376087	15/34	175	137	38	261	261	0	strelka-varscan-mutect	ANKRD26,missense_variant,p.Ala537Ser,ENST00000436985,;ANKRD26,missense_variant,p.Ala521Ser,ENST00000376087,NM_014915.2,NM_001256053.1;	A	ENST00000376087	Transcript	missense_variant	1727/6591	1561/5133	521/1710	A/S	Gca/Tca	rs376035947	1		-1	ANKRD26	HGNC	HGNC:29186	protein_coding	YES	CCDS41499.1	ENSP00000365255	Q9UPS8		UPI000006FC41	NM_014915.2,NM_001256053.1	tolerated(1)		15/34		hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF24																	MODERATE	1	SNV	5			1										PASS		rs376035947	.												A	3	1	70	27060348	27060348	C	A	1	0	0	0	0	1	0	0	0	757	811	28	2		2	ANKRD26	10	27060348	Missense_Mutation	SNP	C	C3N-01030_TP	883505	27060348	106737074	421	22598											
MASTL	0	.	GRCh38	chr10	27159631	27159631	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgaaaggtaatggaatatCttattgggggagatgtcaag	13	13	13	2	0	2	2	1	1	1	1	2	4	2	3	0	4	0	1	0	4	6	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.337C>G	p.Leu113Val	p.L113V	ENST00000375940	3/12	114	86	28	193	193	0	strelka-varscan-mutect	MASTL,missense_variant,p.Leu113Val,ENST00000375946,NM_032844.3;MASTL,missense_variant,p.Leu113Val,ENST00000375940,NM_001172303.1;MASTL,missense_variant,p.Leu113Val,ENST00000342386,NM_001172304.1;YME1L1,upstream_gene_variant,,ENST00000477432,;	G	ENST00000375940	Transcript	missense_variant	394/3080	337/2640	113/879	L/V	Ctt/Gtt		1		1	MASTL	HGNC	HGNC:19042	protein_coding	YES	CCDS53502.1	ENSP00000365107	Q96GX5		UPI000004060D	NM_001172303.1	deleterious(0)		3/12		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF1,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	27159631	27159631	C	G	1	0	0	0	0	1	0	0	0	9254	913	32	4		4	MASTL	10	27159631	Missense_Mutation	SNP	C	C3N-01030_TP	99283	27159631	106637791	422	22599											
CCDC7	0	.	GRCh38	chr10	32544281	32544281	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaagagtttaaaataaaaGaagatttggatcaagtacag	22	9	8	2	0	1	3	1	0	0	3	1	4	1	4	0	1	1	2	0	1	9	5	rs746776900		C3N-01030_TP	C3N-01030_NB	G	G																c.1114G>C	p.Glu372Gln	p.E372Q	ENST00000362006	14/18	111	95	16	158	158	0	strelka-varscan-mutect	CCDC7,missense_variant,p.Glu372Gln,ENST00000362006,NM_145023.5,NM_001026383.2;CCDC7,missense_variant,p.Glu372Gln,ENST00000277657,;	C	ENST00000362006	Transcript	missense_variant	1621/2093	1114/1461	372/486	E/Q	Gaa/Caa	rs746776900	1		1	CCDC7	HGNC	HGNC:26533	protein_coding	YES	CCDS7173.1	ENSP00000355078	Q96M83		UPI00000745EB	NM_145023.5,NM_001026383.2	deleterious(0.05)		14/18		hmmpanther:PTHR22035:SF4,hmmpanther:PTHR22035																	MODERATE	1	SNV	1			1										PASS		rs746776900	.												C	3	2	70	32544281	32544281	G	C	1	0	0	0	0	1	0	0	0	2542	943	33	4		4	CCDC7	10	32544281	Missense_Mutation	SNP	G	C3N-01030_TP	5384650	32544281	101253141	423	22600											
RET	0	.	GRCh38	chr10	43118476	43118476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatggggcctgcagccaGgatggtaaggccagctgcag	8	8	16	9	0	0	0	0	0	0	0	0	1	0	1	3	5	4	5	3	5	2	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2388G>T	p.Gln796His	p.Q796H	ENST00000355710	13/20	327	253	74	313	313	0	strelka-varscan-mutect	RET,missense_variant,p.Gln796His,ENST00000355710,NM_020975.4;RET,missense_variant,p.Gln796His,ENST00000340058,NM_020630.4;RET,intron_variant,,ENST00000615310,;RET,downstream_gene_variant,,ENST00000498820,;	T	ENST00000355710	Transcript	missense_variant	2620/5659	2388/3345	796/1114	Q/H	caG/caT		1		1	RET	HGNC	HGNC:9967	protein_coding	YES	CCDS7200.1	ENSP00000347942	P07949	A0A024R7T2	UPI00001336E1	NM_020975.4	deleterious(0.04)		13/20		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000631,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF345,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		rs1328507414	.												T	3	4	70	43118476	43118476	G	T	1	0	0	0	0	1	0	0	0	13406	1014	35	2		2	RET	10	43118476	Missense_Mutation	SNP	G	C3N-01030_TP	10574195	43118476	90678946	424	22601											
CXCL12	0	.	GRCh38	chr10	44380815	44380815	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttgagatgcttgacgtTggctctggcaacatggcttt	8	15	11	7	1	1	2	0	2	1	1	1	3	1	2	0	3	2	5	0	3	2	5	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.127A>T	p.Asn43Tyr	p.N43Y	ENST00000395794	2/4	237	179	58	217	217	0	strelka-varscan-mutect	CXCL12,missense_variant,p.Asn43Tyr,ENST00000374429,NM_000609.6;CXCL12,missense_variant,p.Asn43Tyr,ENST00000343575,NM_199168.3;CXCL12,missense_variant,p.Asn43Tyr,ENST00000395794,NM_001178134.1;CXCL12,missense_variant,p.Asn43Tyr,ENST00000374426,NM_001033886.2;CXCL12,intron_variant,,ENST00000395793,NM_001277990.1;CXCL12,intron_variant,,ENST00000395795,;CXCL12,non_coding_transcript_exon_variant,,ENST00000496375,;CXCL12,non_coding_transcript_exon_variant,,ENST00000488591,;	A	ENST00000395794	Transcript	missense_variant	171/1052	127/423	43/140	N/Y	Aac/Tac		1		-1	CXCL12	HGNC	HGNC:10672	protein_coding	YES	CCDS53527.1	ENSP00000379140	P48061		UPI0000684849	NM_001178134.1	tolerated(0.29)		2/4		Gene3D:2.40.50.40,Pfam_domain:PF00048,Prints_domain:PR00436,hmmpanther:PTHR18837,hmmpanther:PTHR18837:SF3,SMART_domains:SM00199,Superfamily_domains:SSF54117																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	44380815	44380815	T	A	1	0	0	0	0	1	0	0	0	3890	1812	63	4		4	CXCL12	10	44380815	Missense_Mutation	SNP	T	C3N-01030_TP	1262339	44380815	89416607	425	22602											
GDF10	0	.	GRCh38	chr10	47310307	47310307	+	Frame_Shift_Del	DEL	C	C	-																															gccggagaccccgagccccgCgcagcccccaacaactcagc																								rs371903896		C3N-01030_TP	C3N-01030_NB	C	C																c.831delC	p.Ala278GlnfsTer54	p.A278Qfs*54	ENST00000580279	2/3	137	103	34	155	155	0	sindel-varindel-pindel	GDF10,frameshift_variant,p.Ala278GlnfsTer54,ENST00000580279,NM_004962.3;	-	ENST00000580279	Transcript	frameshift_variant	1097/2458	831/1437	277/478	R/X	cgC/cg	rs371903896	1		1	GDF10	HGNC	HGNC:4215	protein_coding	YES	CCDS73117.1	ENSP00000464145	P55107		UPI0000126A13	NM_004962.3			2/3		PIRSF_domain:PIRSF037403,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF145																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	70	47310307	47310307	C	-	1	0	1	0	1	0	0	0	0	6184	755	27	0		0	GDF10	10	47310307	Frame_Shift_Del	DEL	C	C3N-01030_TP	2929492	47310307	86487115	426	22603											
FRMPD2	0	.	GRCh38	chr10	48236515	48236515	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagatgtagtgtcatcggGgcctctccagccaacaggat	9	8	13	11	1	2	1	1	0	1	1	4	2	2	2	3	4	2	2	3	4	2	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.960C>T	p.=	p.A320A	ENST00000374201	9/29	222	174	48	195	194	1	strelka-varscan-mutect	FRMPD2,synonymous_variant,p.=,ENST00000374201,NM_001018071.3;FRMPD2,synonymous_variant,p.=,ENST00000305531,NM_001318191.1;FRMPD2,synonymous_variant,p.=,ENST00000636244,;FRMPD2,3_prime_UTR_variant,,ENST00000637395,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000486151,;	A	ENST00000374201	Transcript	synonymous_variant	1263/4997	960/3930	320/1309	A	gcC/gcT		1		-1	FRMPD2	HGNC	HGNC:28572	protein_coding	YES	CCDS31195.1	ENSP00000363317	Q68DX3		UPI0000D60F5F	NM_001018071.3			9/29		hmmpanther:PTHR19964:SF42,hmmpanther:PTHR19964																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	48236515	48236515	G	A	1	0	0	0	0	0	0	0	1	5928	1219	43	3		3	FRMPD2	10	48236515	Silent	SNP	G	C3N-01030_TP	926208	48236515	85560907	427	22604											
C10orf71	0	.	GRCh38	chr10	49325411	49325411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctctcagccagccccaaagGggaatttcccatctatgcct	9	9	7	16	0	2	0	1	0	2	0	4	1	3	1	6	2	3	0	6	2	3	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2866G>T	p.Gly956Trp	p.G956W	ENST00000374144	3/3	103	71	32	105	104	1	strelka-varscan-mutect	C10orf71,missense_variant,p.Gly956Trp,ENST00000374144,NM_001135196.1;	T	ENST00000374144	Transcript	missense_variant	3154/5230	2866/4308	956/1435	G/W	Ggg/Tgg		1		1	C10orf71	HGNC	HGNC:26973	protein_coding	YES	CCDS44387.1	ENSP00000363259	Q711Q0		UPI0000161572	NM_001135196.1	deleterious(0.05)		3/3		hmmpanther:PTHR33775																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	49325411	49325411	G	T	1	0	0	0	0	1	0	0	0	1769	1232	43	2		2	C10orf71	10	49325411	Missense_Mutation	SNP	G	C3N-01030_TP	1088896	49325411	84472011	428	22605											
PCDH15	0	.	GRCh38	chr10	53808847	53808847	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgattctgattcctcctCactttccacacctccttcca	7	14	2	18	0	2	2	1	2	1	0	7	2	7	2	7	0	0	0	7	0	0	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.5218G>T	p.Glu1740Ter	p.E1740*	ENST00000613657	37/37	362	289	73	366	365	1	strelka-varscan-mutect	PCDH15,stop_gained,p.Glu1740Ter,ENST00000613657,NM_001142769.1;PCDH15,stop_gained,p.Glu1733Ter,ENST00000395445,;PCDH15,stop_gained,p.Glu1739Ter,ENST00000612394,;PCDH15,stop_gained,p.Glu931Ter,ENST00000395446,;PCDH15,stop_gained,p.Glu669Ter,ENST00000395440,;PCDH15,stop_gained,p.Glu600Ter,ENST00000395442,;PCDH15,3_prime_UTR_variant,,ENST00000617271,NM_001142770.1;PCDH15,3_prime_UTR_variant,,ENST00000395438,;PCDH15,3_prime_UTR_variant,,ENST00000409834,;PCDH15,3_prime_UTR_variant,,ENST00000615043,;PCDH15,intron_variant,,ENST00000614895,;PCDH15,intron_variant,,ENST00000373965,NM_001142772.1;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000616114,;PCDH15,intron_variant,,ENST00000621708,NM_001142771.1;PCDH15,intron_variant,,ENST00000495484,;PCDH15,intron_variant,,ENST00000618301,;PCDH15,3_prime_UTR_variant,,ENST00000414367,;PCDH15,intron_variant,,ENST00000476074,;	A	ENST00000613657	Transcript	stop_gained	5613/6329	5218/5373	1740/1790	E/*	Gag/Tag		1		-1	PCDH15	HGNC	HGNC:14674	protein_coding		CCDS73138.1	ENSP00000482794		A0A087WZN9	UPI0001884905	NM_001142769.1			37/37		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,Low_complexity_(Seg):seg																	HIGH		SNV	5			1										PASS		.	.												A	4	1	70	53808847	53808847	C	A	1	0	0	0	0	0	1	0	0	11598	835	29	2		2	PCDH15	10	53808847	Nonsense_Mutation	SNP	C	C3N-01030_TP	4483436	53808847	79988575	429	22606											
BICC1	0	.	GRCh38	chr10	58620901	58620901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagacttttttcaaaaGgtaagttgtcttttactctt	10	17	9	5	0	3	1	1	0	2	1	3	2	3	2	0	3	1	2	0	3	5	8	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.237G>T	p.Lys79Asn	p.K79N	ENST00000373886	2/21	104	76	28	126	126	0	strelka-varscan-mutect	BICC1,missense_variant,p.Lys79Asn,ENST00000373886,NM_001080512.2;BICC1,splice_region_variant,,ENST00000476684,;	T	ENST00000373886	Transcript	missense_variant,splice_region_variant	241/5475	237/2925	79/974	K/N	aaG/aaT		1		1	BICC1	HGNC	HGNC:19351	protein_coding	YES	CCDS31206.1	ENSP00000362993	Q9H694		UPI000059D156	NM_001080512.2	tolerated(0.11)		2/21		Gene3D:3.30.1370.10,hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF38,SMART_domains:SM00322,Superfamily_domains:SSF54791																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	70	58620901	58620901	G	T	1	0	0	0	0	1	0	0	0	1576	1014	35	2		2	BICC1	10	58620901	Missense_Mutation	SNP	G	C3N-01030_TP	4812054	58620901	75176521	430	22607											
TMEM26	0	.	GRCh38	chr10	61410347	61410347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtgtggtgggagtcgtcgGaggtgactggggagccccgc	4	7	22	8	3	0	1	0	1	0	0	2	4	0	4	2	7	1	0	2	7	0	0			C3N-01030_TP	C3N-01030_NB	G	G																c.1082C>A	p.Ser361Tyr	p.S361Y	ENST00000399298	6/6	110	83	27	101	101	0	strelka-varscan-mutect	TMEM26,missense_variant,p.Ser361Tyr,ENST00000399298,NM_178505.6;TMEM26,downstream_gene_variant,,ENST00000277749,;TMEM26,non_coding_transcript_exon_variant,,ENST00000507507,;TMEM26,missense_variant,p.Ser361Tyr,ENST00000503886,;TMEM26,downstream_gene_variant,,ENST00000488505,;	T	ENST00000399298	Transcript	missense_variant	1451/5151	1082/1107	361/368	S/Y	tCc/tAc	COSM684772	1		-1	TMEM26	HGNC	HGNC:28550	protein_coding	YES	CCDS41530.1	ENSP00000382237	Q6ZUK4		UPI00001C0B3F	NM_178505.6	deleterious_low_confidence(0.02)		6/6		hmmpanther:PTHR22168,hmmpanther:PTHR22168:SF3											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	70	61410347	61410347	G	T	1	0	0	0	0	1	0	0	0	16620	1174	41	2		2	TMEM26	10	61410347	Missense_Mutation	SNP	G	C3N-01030_TP	2789446	61410347	72387075	431	22608											
KCNMA1	0	.	GRCh38	chr10	77108507	77108508	+	Frame_Shift_Ins	INS	-	-	C																															cactaaccgcactataggagINScccccgtatttcttgcggtt																								novel		C3N-01030_TP	C3N-01030_NB	-	-																c.1196dupG	p.Ser400LeufsTer3	p.S400Lfs*3	ENST00000286628	9/28	309	236	73	329	329	0	sindel-varindel-pindel	KCNMA1,frameshift_variant,p.Ser261LeufsTer3,ENST00000604624,NM_001322832.1,NM_001322829.1;KCNMA1,frameshift_variant,p.Ser400LeufsTer3,ENST00000286627,NM_002247.3;KCNMA1,frameshift_variant,p.Ser400LeufsTer3,ENST00000286628,NM_001161352.1;KCNMA1,frameshift_variant,p.Ser232LeufsTer3,ENST00000354353,;KCNMA1,frameshift_variant,p.Ser232LeufsTer3,ENST00000406533,NM_001322837.1,NM_001271519.1;KCNMA1,frameshift_variant,p.Ser400LeufsTer3,ENST00000372443,;KCNMA1,frameshift_variant,p.Ser400LeufsTer3,ENST00000372440,NM_001014797.2;KCNMA1,frameshift_variant,p.Ser400LeufsTer3,ENST00000404771,;KCNMA1,frameshift_variant,p.Ser374LeufsTer3,ENST00000457953,;KCNMA1,frameshift_variant,p.Ser400LeufsTer3,ENST00000626620,NM_001161353.1;KCNMA1,frameshift_variant,p.Ser335LeufsTer3,ENST00000372437,;KCNMA1,frameshift_variant,p.Ser374LeufsTer3,ENST00000372421,;KCNMA1,frameshift_variant,p.Ser337LeufsTer3,ENST00000372408,;KCNMA1,frameshift_variant,p.Ser351LeufsTer3,ENST00000372403,;KCNMA1,frameshift_variant,p.Ser232LeufsTer3,ENST00000404857,NM_001271518.1;KCNMA1,frameshift_variant,p.Ser79LeufsTer3,ENST00000434208,;KCNMA1,downstream_gene_variant,,ENST00000637862,;	C	ENST00000286628	Transcript	frameshift_variant	1196-1197/6100	1196-1197/3711	399/1236	G/GX	ggc/ggGc		1		-1	KCNMA1	HGNC	HGNC:6284	protein_coding	YES	CCDS60569.1	ENSP00000286628	Q12791		UPI00003519E7	NM_001161352.1			9/28		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF28																	HIGH	1	insertion	1			1										PASS		.	.												C	7	5	70	77108507	77108507	-	C	1	0	1	1	0	0	0	0	0	7990	958	34	0		0	KCNMA1	10	77108507	Frame_Shift_Ins	INS	-	C3N-01030_TP	15698160	77108507	56688915	432	22609											
NUTM2B	0	.	GRCh38	chr10	79706179	79706179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggggctcctccaggcGgccctctggtgctgtctacc	3	9	13	16	1	2	0	0	0	2	0	4	0	4	0	4	5	3	3	4	5	1	1			C3N-01030_TP	C3N-01030_NB	G	G																c.520G>T	p.Gly174Cys	p.G174C	ENST00000429828	2/7	241	211	30	192	192	0	varscan-mutect	NUTM2B,missense_variant,p.Gly107Cys,ENST00000372321,;NUTM2B,missense_variant,p.Gly174Cys,ENST00000429828,NM_001278495.1;NUTM2B,upstream_gene_variant,,ENST00000342531,;NUTM2B-AS1,intron_variant,,ENST00000601369,;NUTM2B-AS1,intron_variant,,ENST00000600376,;NUTM2B-AS1,intron_variant,,ENST00000596088,;	T	ENST00000429828	Transcript	missense_variant	903/3292	520/2637	174/878	G/C	Ggc/Tgc	COSM5316975	1		1	NUTM2B	HGNC	HGNC:23445	protein_coding	YES	CCDS60574.1	ENSP00000394623	A6NNL0		UPI0000199D26	NM_001278495.1	deleterious(0.02)		2/7		Pfam_domain:PF12881,hmmpanther:PTHR22879											1						MODERATE	1	SNV	5		1	1										PASS		rs1342127227	.												T	3	4	70	79706179	79706179	G	T	1	0	0	0	0	1	0	0	0	10848	1116	39	1		1	NUTM2B	10	79706179	Missense_Mutation	SNP	G	C3N-01030_TP	2597672	79706179	54091243	433	22610											
GRID1	0	.	GRCh38	chr10	85647232	85647232	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgaaggactggacacGcagttgtcagcccctccgtt	7	10	10	14	2	2	1	1	1	1	0	3	3	3	3	4	2	1	3	4	2	1	3	rs374077562		C3N-01030_TP	C3N-01030_NB	G	G																c.2163C>A	p.Cys721Ter	p.C721*	ENST00000327946	13/16	129	94	35	106	106	0	strelka-varscan-mutect	GRID1,stop_gained,p.Cys721Ter,ENST00000327946,NM_017551.2;RP11-93H12.4,non_coding_transcript_exon_variant,,ENST00000474115,;RN7SKP238,downstream_gene_variant,,ENST00000516483,;GRID1,stop_gained,p.Cys721Ter,ENST00000464741,;	T	ENST00000327946	Transcript	stop_gained	2249/5834	2163/3030	721/1009	C/*	tgC/tgA	rs374077562,COSM1506024,COSM4016359	1		-1	GRID1	HGNC	HGNC:4575	protein_coding	YES	CCDS31236.1	ENSP00000330148	Q9ULK0		UPI00001D8051	NM_017551.2			13/16		Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF108,SMART_domains:SM00079,Superfamily_domains:SSF53850											0,1,1						HIGH	1	SNV	2		0,1,1	1										PASS		rs374077562	.												T	4	4	70	85647232	85647232	G	T	1	0	0	0	0	0	1	0	0	6651	1079	38	1		1	GRID1	10	85647232	Nonsense_Mutation	SNP	G	C3N-01030_TP	5941053	85647232	48150190	434	22611											
MMRN2	0	.	GRCh38	chr10	86942625	86942625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagggaggcggccccggccCcggcctcggcctcgcagcac	4	3	16	18	5	0	1	0	1	0	0	2	2	0	2	6	6	1	2	6	6	0	0			C3N-01030_TP	C3N-01030_NB	C	C																c.2159G>T	p.Gly720Val	p.G720V	ENST00000372027	6/7	120	91	29	124	124	0	strelka-varscan-mutect	MMRN2,missense_variant,p.Gly720Val,ENST00000372027,NM_024756.2;MMRN2,downstream_gene_variant,,ENST00000610081,;MMRN2,downstream_gene_variant,,ENST00000609457,;MMRN2,downstream_gene_variant,,ENST00000474994,;MMRN2,downstream_gene_variant,,ENST00000488950,;MMRN2,downstream_gene_variant,,ENST00000608090,;MMRN2,downstream_gene_variant,,ENST00000608753,;	A	ENST00000372027	Transcript	missense_variant	2481/4375	2159/2850	720/949	G/V	gGg/gTg	COSM1349427	1		-1	MMRN2	HGNC	HGNC:19888	protein_coding	YES	CCDS7379.1	ENSP00000361097	Q9H8L6		UPI000013F046	NM_024756.2	tolerated(0.37)		6/7		Low_complexity_(Seg):seg,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF6											1						MODERATE	1	SNV	1		1	1										PASS		rs765670198	.												A	3	1	70	86942625	86942625	C	A	1	0	0	0	0	1	0	0	0	9634	623	22	2		2	MMRN2	10	86942625	Missense_Mutation	SNP	C	C3N-01030_TP	1295393	86942625	46854797	435	22612											
IFIT2	0	.	GRCh38	chr10	89307299	89307299	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatgaaaaaatgcaacAagcagatgaagactctgaga	19	6	10	6	0	1	6	0	4	1	3	1	7	1	6	0	0	3	3	0	0	7	0	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.1343A>T	p.Gln448Leu	p.Q448L	ENST00000638108	5/5	106	79	27	89	89	0	strelka-varscan-mutect	IFIT2,missense_variant,p.Gln448Leu,ENST00000638108,;IFIT2,missense_variant,p.Gln448Leu,ENST00000371826,NM_001547.4;IFIT2,missense_variant,p.Gln448Leu,ENST00000611722,;LIPA,intron_variant,,ENST00000371837,;LIPA,intron_variant,,ENST00000282673,;LIPA,intron_variant,,ENST00000487618,;LIPA,intron_variant,,ENST00000463623,;	T	ENST00000638108	Transcript	missense_variant	2102/3703	1343/1419	448/472	Q/L	cAa/cTa		1		1	IFIT2	HGNC	HGNC:5409	protein_coding	YES	CCDS41548.1	ENSP00000490935			UPI000012D3E4		tolerated(0.08)		5/5		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10271:SF4,hmmpanther:PTHR10271,Gene3D:1.25.40.10																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	70	89307299	89307299	A	T	1	0	0	0	0	1	0	0	0	7423	130	5	4		4	IFIT2	10	89307299	Missense_Mutation	SNP	A	C3N-01030_TP	2364674	89307299	44490123	436	22613											
BTAF1	0	.	GRCh38	chr10	92026746	92026746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaccgggcccatcgcattGggcaggtaaaagtcaatttt	10	10	12	9	2	1	0	1	0	0	0	2	1	1	1	2	4	0	3	2	4	3	4			C3N-01030_TP	C3N-01030_NB	G	G																c.5230G>T	p.Gly1744Trp	p.G1744W	ENST00000265990	36/38	66	53	13	69	69	0	strelka-varscan-mutect	BTAF1,missense_variant,p.Gly1744Trp,ENST00000265990,NM_003972.2;BTAF1,missense_variant,p.Gly1744Trp,ENST00000544642,;	T	ENST00000265990	Transcript	missense_variant	5538/7250	5230/5550	1744/1849	G/W	Ggg/Tgg	COSM1349802	1		1	BTAF1	HGNC	HGNC:17307	protein_coding	YES	CCDS7419.1	ENSP00000265990	O14981	Q2M1V9	UPI0000136782	NM_003972.2	deleterious(0)		36/38		Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,SMART_domains:SM00490,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	70	92026746	92026746	G	T	1	0	0	0	0	1	0	0	0	1711	1362	47	2		2	BTAF1	10	92026746	Missense_Mutation	SNP	G	C3N-01030_TP	2719447	92026746	41770676	437	22614											
MARCH5	0	.	GRCh38	chr10	92349704	92349704	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctcgaattccagctgAggccaatcctttagcagatc	9	12	8	12	1	0	2	0	1	0	1	5	3	3	2	4	1	2	3	4	1	3	4	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.587A>T	p.Glu196Val	p.E196V	ENST00000358935	5/6	151	117	34	144	144	0	strelka-varscan-mutect	MARCH5,missense_variant,p.Glu196Val,ENST00000358935,NM_017824.4;MARCH5,non_coding_transcript_exon_variant,,ENST00000467521,;MARCH5,non_coding_transcript_exon_variant,,ENST00000492319,;MARCH5,downstream_gene_variant,,ENST00000462465,;	T	ENST00000358935	Transcript	missense_variant	919/3926	587/837	196/278	E/V	gAg/gTg		1		1	MARCH5	HGNC	HGNC:26025	protein_coding	YES	CCDS7420.1	ENSP00000351813	Q9NX47		UPI000006D0BC	NM_017824.4	tolerated(0.21)		5/6		hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF70																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	92349704	92349704	A	T	1	0	0	0	0	1	0	0	0	9229	304	11	4		4	MARCH5	10	92349704	Missense_Mutation	SNP	A	C3N-01030_TP	322958	92349704	41447718	438	22615											
CYP2C18	0	.	GRCh38	chr10	94688165	94688165	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagagatggaaggagatccgGcgtttctgcctcatgactct	10	10	12	9	2	3	3	1	1	2	2	4	6	4	4	2	3	1	1	2	3	2	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.372G>T	p.=	p.R124R	ENST00000285979	3/9	191	147	44	188	188	0	strelka-varscan-mutect	CYP2C18,synonymous_variant,p.=,ENST00000285979,NM_000772.2;CYP2C18,synonymous_variant,p.=,ENST00000339022,NM_001128925.1;RP11-400G3.5,synonymous_variant,p.=,ENST00000464755,;	T	ENST00000285979	Transcript	synonymous_variant	571/2418	372/1473	124/490	R	cgG/cgT		1		1	CYP2C18	HGNC	HGNC:2620	protein_coding	YES	CCDS7435.1	ENSP00000285979	P33260		UPI000013DE1D	NM_000772.2			3/9		hmmpanther:PTHR24300:SF123,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	LOW	1	SNV	1			1										PASS		rs1252596055	.												T	2	4	70	94688165	94688165	G	T	1	0	0	0	0	0	0	0	1	3968	1190	42	2		2	CYP2C18	10	94688165	Silent	SNP	G	C3N-01030_TP	2338461	94688165	39109257	439	22616											
SORBS1	0	.	GRCh38	chr10	95339274	95339274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcgggatgtccccgggatCctcccttcgtaccagttctc	4	12	10	15	3	1	0	0	0	1	0	7	2	4	2	5	2	1	2	5	2	1	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2724G>T	p.Arg908Ser	p.R908S	ENST00000371247	29/33	97	72	25	82	82	0	strelka-varscan-mutect	SORBS1,missense_variant,p.Arg908Ser,ENST00000371247,;SORBS1,missense_variant,p.Arg862Ser,ENST00000371227,NM_001290294.1;SORBS1,missense_variant,p.Arg930Ser,ENST00000371246,;SORBS1,missense_variant,p.Arg690Ser,ENST00000371249,NM_015385.3;SORBS1,missense_variant,p.Arg655Ser,ENST00000306402,NM_024991.2,NM_001290295.1;SORBS1,missense_variant,p.Arg1168Ser,ENST00000607232,;SORBS1,missense_variant,p.Arg908Ser,ENST00000361941,NM_001034954.1;SORBS1,missense_variant,p.Arg930Ser,ENST00000277982,NM_001034955.1;SORBS1,missense_variant,p.Arg878Ser,ENST00000354106,NM_001290296.1,NM_001290298.1;SORBS1,missense_variant,p.Arg759Ser,ENST00000371245,NM_001034956.1;SORBS1,missense_variant,p.Arg685Ser,ENST00000371239,NM_001290297.1;SORBS1,missense_variant,p.Arg558Ser,ENST00000371241,NM_006434.2,NM_001034957.1;SORBS1,missense_variant,p.Arg381Ser,ENST00000634504,;SORBS1,downstream_gene_variant,,ENST00000371228,;SORBS1,downstream_gene_variant,,ENST00000474353,;	A	ENST00000371247	Transcript	missense_variant	2914/7354	2724/3879	908/1292	R/S	agG/agT		1		-1	SORBS1	HGNC	HGNC:14565	protein_coding	YES	CCDS31255.1	ENSP00000360293	Q9BX66		UPI000013D6B7		deleterious(0.04)		29/33		PROSITE_profiles:PS50002,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF202,Pfam_domain:PF00018,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	95339274	95339274	C	A	1	0	0	0	0	1	0	0	0	15249	854	30	2		2	SORBS1	10	95339274	Missense_Mutation	SNP	C	C3N-01030_TP	651109	95339274	38458148	440	22617											
TLL2	0	.	GRCh38	chr10	96368135	96368135	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacttggtgctggtgtatcGggcatgaaagcctttcttgt	7	14	13	7	1	1	1	0	1	1	0	2	2	1	1	1	3	3	3	1	3	3	4	rs768503540		C3N-01030_TP	C3N-01030_NB	G	G																c.3001C>A	p.=	p.R1001R	ENST00000357947	21/21	181	146	35	158	158	0	strelka-varscan-mutect	TLL2,synonymous_variant,p.=,ENST00000357947,NM_012465.3;TLL2,downstream_gene_variant,,ENST00000506028,;	T	ENST00000357947	Transcript	synonymous_variant	3227/6756	3001/3048	1001/1015	R	Cga/Aga	rs768503540	1		-1	TLL2	HGNC	HGNC:11844	protein_coding	YES	CCDS7449.1	ENSP00000350630	Q9Y6L7		UPI0000073AEE	NM_012465.3			21/21		PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF638,hmmpanther:PTHR10127,Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854																	LOW	1	SNV	1			1										PASS		rs768503540	.												T	2	4	70	96368135	96368135	G	T	1	0	0	0	0	0	0	0	1	16392	1124	39	1		1	TLL2	10	96368135	Silent	SNP	G	C3N-01030_TP	1028861	96368135	37429287	441	22618											
CNNM1	0	.	GRCh38	chr10	99387975	99387975	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggatgaccccgccatcacGctcctcaacaacaggaacag	14	4	8	15	2	2	1	2	1	0	0	3	3	3	3	4	2	3	1	4	2	4	0	rs373509693		C3N-01030_TP	C3N-01030_NB	G	G																c.2496G>T	p.=	p.T832T	ENST00000356713	8/11	59	47	12	49	49	0	strelka-varscan-mutect	CNNM1,synonymous_variant,p.=,ENST00000356713,NM_020348.2;	T	ENST00000356713	Transcript	synonymous_variant	2785/5959	2496/2856	832/951	T	acG/acT	rs373509693	1		1	CNNM1	HGNC	HGNC:102	protein_coding	YES	CCDS7478.2	ENSP00000349147	Q9NRU3		UPI0000E19A44	NM_020348.2			8/11																			LOW	1	SNV	1			1										PASS		rs373509693	.												T	2	4	70	99387975	99387975	G	T	1	0	0	0	0	0	0	0	1	3392	1074	38	1		1	CNNM1	10	99387975	Silent	SNP	G	C3N-01030_TP	3019840	99387975	34409447	442	22619											
DNMBP	0	.	GRCh38	chr10	99969197	99969197	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctccctcttttagactGggaatggtcacaatttccac	8	14	6	13	0	3	1	1	0	2	1	6	2	5	2	2	2	0	0	2	2	3	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.186C>G	p.=	p.P62P	ENST00000324109	3/17	126	98	28	134	134	0	strelka-varscan-mutect	DNMBP,synonymous_variant,p.=,ENST00000324109,NM_015221.2;	C	ENST00000324109	Transcript	synonymous_variant	278/6400	186/4734	62/1577	P	ccC/ccG		1		-1	DNMBP	HGNC	HGNC:30373	protein_coding	YES	CCDS7485.1	ENSP00000315659	Q6XZF7		UPI000013D6C9	NM_015221.2			3/17		hmmpanther:PTHR22834:SF19,hmmpanther:PTHR22834,Gene3D:2.30.30.40,Superfamily_domains:SSF50044																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	70	99969197	99969197	G	C	1	0	0	0	0	0	0	0	1	4487	1335	47	4		4	DNMBP	10	99969197	Silent	SNP	G	C3N-01030_TP	581222	99969197	33828225	443	22620											
CNNM2	0	.	GRCh38	chr10	102918791	102918791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggacccgggtcaagctgcGggtgtacgggcagaacatca	10	5	15	11	4	2	1	2	0	0	1	2	2	2	2	1	4	4	3	1	4	3	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.311G>T	p.Arg104Leu	p.R104L	ENST00000369878	1/8	156	118	38	131	131	0	strelka-varscan-mutect	CNNM2,missense_variant,p.Arg104Leu,ENST00000369878,NM_017649.4;CNNM2,missense_variant,p.Arg104Leu,ENST00000433628,NM_199076.2;CNNM2,missense_variant,p.Arg104Leu,ENST00000369875,NM_199077.2;RP11-724N1.1,downstream_gene_variant,,ENST00000610034,;	T	ENST00000369878	Transcript	missense_variant	499/15857	311/2628	104/875	R/L	cGg/cTg		1		1	CNNM2	HGNC	HGNC:103	protein_coding	YES	CCDS44474.1	ENSP00000358894	Q9H8M5		UPI0000231CA6	NM_017649.4	deleterious(0)		1/8		hmmpanther:PTHR12064,hmmpanther:PTHR12064:SF22																	MODERATE	1	SNV	1			1										PASS		rs976703670	.												T	3	4	70	102918791	102918791	G	T	1	0	0	0	0	1	0	0	0	3393	1116	39	1		1	CNNM2	10	102918791	Missense_Mutation	SNP	G	C3N-01030_TP	2949594	102918791	30878631	444	22621											
TCF7L2	0	.	GRCh38	chr10	112951597	112951597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacggatcgctctcgcccaCcgcccgaaccgtaagtgcct	8	6	9	18	6	1	0	0	0	1	0	3	2	1	1	5	1	3	2	5	1	3	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.371C>T	p.Thr124Ile	p.T124I	ENST00000627217	3/14	177	154	23	93	93	0	strelka-mutect	TCF7L2,missense_variant,p.Thr18Ile,ENST00000542695,;TCF7L2,missense_variant,p.Thr124Ile,ENST00000355995,;TCF7L2,missense_variant,p.Thr124Ile,ENST00000543371,;TCF7L2,missense_variant,p.Thr124Ile,ENST00000538897,NM_001198529.1,NM_001146284.1,NM_001198531.1;TCF7L2,missense_variant,p.Thr124Ile,ENST00000536810,NM_001146285.1;TCF7L2,missense_variant,p.Thr124Ile,ENST00000369397,NM_030756.4;TCF7L2,missense_variant,p.Thr124Ile,ENST00000534894,NM_001198530.1;TCF7L2,missense_variant,p.Thr124Ile,ENST00000627217,NM_001146274.1;TCF7L2,missense_variant,p.Thr124Ile,ENST00000545257,NM_001198525.1;TCF7L2,missense_variant,p.Thr124Ile,ENST00000355717,NM_001146286.1,NM_001146283.1;TCF7L2,missense_variant,p.Thr124Ile,ENST00000629706,NM_001198526.1;TCF7L2,missense_variant,p.Thr124Ile,ENST00000352065,NM_001198528.1;TCF7L2,missense_variant,p.Thr124Ile,ENST00000369395,NM_001198527.1;TCF7L2,missense_variant,p.Thr71Ile,ENST00000346198,;RP11-57H14.2,intron_variant,,ENST00000369391,;	T	ENST00000627217	Transcript	missense_variant	721/3680	371/1809	124/602	T/I	aCc/aTc		1		1	TCF7L2	HGNC	HGNC:11641	protein_coding	YES	CCDS53577.1	ENSP00000486891	Q9NQB0		UPI000002B4A6	NM_001146274.1	tolerated(0.14)		3/14		hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF32,Pfam_domain:PF08347																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	112951597	112951597	C	T	1	0	0	0	0	1	0	0	0	16105	507	18	3		3	TCF7L2	10	112951597	Missense_Mutation	SNP	C	C3N-01030_TP	10032806	112951597	20845825	445	22622											
PNLIPRP1	0	.	GRCh38	chr10	116605448	116605448	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaagctggatgttggaaCaattgagaaagtcaagtttc	14	11	11	5	0	1	1	1	1	0	1	2	4	1	3	0	2	3	4	0	2	5	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1235C>A	p.Thr412Lys	p.T412K	ENST00000528052	12/13	74	64	10	81	81	0	strelka-varscan-mutect	PNLIPRP1,missense_variant,p.Thr412Lys,ENST00000528052,NM_001303135.1;PNLIPRP1,missense_variant,p.Thr412Lys,ENST00000358834,NM_006229.3;PNLIPRP1,missense_variant,p.Thr412Lys,ENST00000534537,;PNLIPRP1,3_prime_UTR_variant,,ENST00000482833,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000526223,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000531825,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525820,;PNLIPRP1,downstream_gene_variant,,ENST00000534513,;	A	ENST00000528052	Transcript	missense_variant	1306/1533	1235/1404	412/467	T/K	aCa/aAa		1		1	PNLIPRP1	HGNC	HGNC:9156	protein_coding	YES	CCDS7595.1	ENSP00000433933	P54315		UPI000012E6AA	NM_001303135.1	tolerated(1)		12/13		Gene3D:2.60.60.20,Pfam_domain:PF01477,PIRSF_domain:PIRSF000865,Prints_domain:PR00821,PROSITE_profiles:PS50095,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF108,SMART_domains:SM00308,Superfamily_domains:SSF49723																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	70	116605448	116605448	C	A	1	0	0	0	0	1	0	0	0	12258	478	17	2		2	PNLIPRP1	10	116605448	Missense_Mutation	SNP	C	C3N-01030_TP	3653851	116605448	17191974	446	22623											
TACC2	0	.	GRCh38	chr10	122084421	122084421	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccacccagaaaggggggtGctgggcacacggacgggccc	9	2	17	13	2	0	1	0	0	0	1	0	2	0	2	3	6	2	2	3	6	1	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1921G>C	p.Ala641Pro	p.A641P	ENST00000369005	4/23	249	179	70	217	217	0	strelka-varscan-mutect	TACC2,missense_variant,p.Ala641Pro,ENST00000369005,NM_206862.3;TACC2,missense_variant,p.Ala641Pro,ENST00000334433,;TACC2,missense_variant,p.Ala641Pro,ENST00000515273,NM_001291877.1;TACC2,missense_variant,p.Ala641Pro,ENST00000453444,;TACC2,missense_variant,p.Ala641Pro,ENST00000515603,NM_001291876.1;TACC2,intron_variant,,ENST00000513429,NM_206861.2;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;	C	ENST00000369005	Transcript	missense_variant	2261/9673	1921/8847	641/2948	A/P	Gct/Cct		1		1	TACC2	HGNC	HGNC:11523	protein_coding	YES	CCDS7626.1	ENSP00000358001	O95359		UPI0000246F6B	NM_206862.3	tolerated(1)		4/23		hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11																	MODERATE	1	SNV	1			1										PASS		rs1311374362	.												C	3	2	70	122084421	122084421	G	C	1	0	0	0	0	1	0	0	0	15898	1319	46	4		4	TACC2	10	122084421	Missense_Mutation	SNP	G	C3N-01030_TP	5478973	122084421	11713001	447	22624											
DPYSL4	0	.	GRCh38	chr10	132194846	132194846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccatgctgccttcacagtGgaccacgtcttccccgacac	8	8	8	17	2	2	0	1	0	1	0	3	3	3	1	5	1	2	1	5	1	0	2	rs762781240		C3N-01030_TP	C3N-01030_NB	G	G																c.315G>T	p.Leu105Phe	p.L105F	ENST00000338492	4/14	92	72	20	78	78	0	strelka-varscan-mutect	DPYSL4,missense_variant,p.Leu105Phe,ENST00000338492,NM_006426.2;DPYSL4,missense_variant,p.Leu28Phe,ENST00000368627,;DPYSL4,splice_region_variant,,ENST00000493882,;DPYSL4,downstream_gene_variant,,ENST00000493927,;	T	ENST00000338492	Transcript	missense_variant,splice_region_variant	479/2729	315/1719	105/572	L/F	ttG/ttT	rs762781240	1		1	DPYSL4	HGNC	HGNC:3016	protein_coding	YES	CCDS7665.1	ENSP00000339850	O14531		UPI000013DC70	NM_006426.2	deleterious(0.03)		4/14		Gene3D:3.20.20.140,Pfam_domain:PF01979,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF55,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR02033																	MODERATE	1	SNV	1			1										PASS		rs762781240	.												T	3	4	70	132194846	132194846	G	T	1	0	0	0	0	1	0	0	0	4564	1362	47	2		2	DPYSL4	10	132194846	Missense_Mutation	SNP	G	C3N-01030_TP	10110425	132194846	1602576	448	22625											
LRRC27	0	.	GRCh38	chr10	132365487	132365489	+	In_Frame_Del	DEL	AAG	AAG	-																															gtcctccaaatgcgtgagcaAagaagattccatggccaggc																								novel		C3N-01030_TP	C3N-01030_NB	AAG	AAG																c.1357_1359delAGA	p.Arg453del	p.R453del	ENST00000368614	10/11	316	287	29	340	340	0	sindel-varindel-pindel	LRRC27,inframe_deletion,p.Arg453del,ENST00000368614,NM_030626.2;LRRC27,inframe_deletion,p.Arg453del,ENST00000368613,NM_001143757.1;LRRC27,inframe_deletion,p.Arg391del,ENST00000368612,;LRRC27,non_coding_transcript_exon_variant,,ENST00000462656,;LRRC27,non_coding_transcript_exon_variant,,ENST00000472556,;LRRC27,non_coding_transcript_exon_variant,,ENST00000487000,;LRRC27,non_coding_transcript_exon_variant,,ENST00000476889,;LRRC27,downstream_gene_variant,,ENST00000472387,;LRRC27,non_coding_transcript_exon_variant,,ENST00000475747,;	-	ENST00000368614	Transcript	inframe_deletion	1458-1460/6374	1353-1355/1593	451-452/530	QR/Q	caAAGa/caa		1		1	LRRC27	HGNC	HGNC:29346	protein_coding	YES	CCDS31316.1	ENSP00000357603	Q9C0I9	A0A140VJN2	UPI0000141386	NM_030626.2			10/11																			MODERATE	1	deletion	1	4		1										PASS		.	.												-	7	5	70	132365487	132365487	AAG	-	1	0	1	0	1	0	0	0	0	8876	11	1	0		0	LRRC27	10	132365487	In_Frame_Del	DEL	AAG	C3N-01030_TP	170641	132365487	1431935	449	22626											
MUC5B	0	.	GRCh38	chr11	1255136	1255136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagacgtggctggtccccGacagcagaaaggatggctgc	10	5	14	12	2	0	2	0	0	0	2	1	4	1	3	3	4	2	3	3	4	2	0	rs201710759		C3N-01030_TP	C3N-01030_NB	G	G																c.15760G>T	p.Asp5254Tyr	p.D5254Y	ENST00000529681	36/49	211	164	47	119	118	1	strelka-varscan-mutect	MUC5B,missense_variant,p.Asp5254Tyr,ENST00000529681,NM_002458.2;MUC5B,upstream_gene_variant,,ENST00000526859,;MIR6744,upstream_gene_variant,,ENST00000619480,;MUC5B,upstream_gene_variant,,ENST00000527802,;	T	ENST00000529681	Transcript	missense_variant	15818/17911	15760/17289	5254/5762	D/Y	Gac/Tac	rs201710759	1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2	deleterious(0.03)		36/49		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF269																	MODERATE	1	SNV	5			1										PASS		rs201710759	.												T	3	4	70	1255136	1255136	G	T	1	0	0	0	0	1	0	0	0	9979	1058	37	1		1	MUC5B	11	1255136	Missense_Mutation	SNP	G	C3N-01030_TP		1255136	133831486	450	22627											
OR52A5	0	.	GRCh38	chr11	5132160	5132160	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcatttgatgagccctaaGgaaggtattataagaatggc	14	10	11	6	0	0	3	0	2	0	1	0	4	0	4	1	3	2	2	1	3	6	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.483C>T	p.=	p.S161S	ENST00000307388	1/1	170	141	29	183	183	0	strelka-varscan-mutect	OR52A5,synonymous_variant,p.=,ENST00000307388,NM_001005160.2;	A	ENST00000307388	Transcript	synonymous_variant	483/951	483/951	161/316	S	tcC/tcT		1		-1	OR52A5	HGNC	HGNC:19580	protein_coding	YES	CCDS31373.1	ENSP00000303469	Q9H2C5	A0A126GWD2	UPI0000046AEF	NM_001005160.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF48,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs1453837989	.												A	2	1	70	5132160	5132160	G	A	1	0	0	0	0	0	0	0	1	11183	987	35	3		3	OR52A5	11	5132160	Silent	SNP	G	C3N-01030_TP	3877024	5132160	129954462	451	22628											
TRIM22	0	.	GRCh38	chr11	5709630	5709630	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctagtccccatgactgtGtgcccaccgagctcctgagt	6	10	10	15	1	0	2	0	2	0	0	2	3	2	2	6	0	3	1	6	0	1	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1479G>A	p.=	p.V493V	ENST00000379965	8/8	77	64	13	82	82	0	strelka-varscan-mutect	TRIM22,synonymous_variant,p.=,ENST00000379965,NM_001199573.1,NM_006074.4;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM22,intron_variant,,ENST00000444844,;TRIM22,intron_variant,,ENST00000429063,;TRIM5,intron_variant,,ENST00000412903,;TRIM22,intron_variant,,ENST00000450670,;TRIM22,downstream_gene_variant,,ENST00000454828,;TRIM22,downstream_gene_variant,,ENST00000480395,;TRIM22,downstream_gene_variant,,ENST00000414897,;TRIM22,downstream_gene_variant,,ENST00000493494,;	A	ENST00000379965	Transcript	synonymous_variant	1756/2989	1479/1497	493/498	V	gtG/gtA		1		1	TRIM22	HGNC	HGNC:16379	protein_coding	YES	CCDS41612.1	ENSP00000369299	Q8IYM9		UPI0000074222	NM_001199573.1,NM_006074.4			8/8		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF416,SMART_domains:SM00449,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	5709630	5709630	G	A	1	0	0	0	0	0	0	0	1	16985	1364	48	3		3	TRIM22	11	5709630	Silent	SNP	G	C3N-01030_TP	577470	5709630	129376992	452	22629											
OR52E4	0	.	GRCh38	chr11	5884698	5884698	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaccctctccagtacaccAtgatcctcaccaataaaacc	14	7	3	17	0	2	1	1	1	1	0	4	1	3	1	6	0	3	2	6	0	5	2			C3N-01030_TP	C3N-01030_NB	A	A																c.406A>G	p.Met136Val	p.M136V	ENST00000316987	1/1	265	233	32	264	264	0	strelka-varscan-mutect	OR52E4,missense_variant,p.Met136Val,ENST00000316987,NM_001005165.1;TRIM5,intron_variant,,ENST00000412903,;	G	ENST00000316987	Transcript	missense_variant	428/1030	406/939	136/312	M/V	Atg/Gtg	COSM1508974	1		1	OR52E4	HGNC	HGNC:15213	protein_coding	YES	CCDS31401.1	ENSP00000321426	Q8NGH9		UPI0000041BE2	NM_001005165.1	tolerated(0.2)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF13,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245											1						MODERATE	1	SNV			1	1										PASS		.	.												G	3	3	70	5884698	5884698	A	G	1	0	0	0	0	1	0	0	0	11188	217	8	5		5	OR52E4	11	5884698	Missense_Mutation	SNP	A	C3N-01030_TP	175068	5884698	129201924	453	22630											
OR56A5	0	.	GRCh38	chr11	5967836	5967836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcaagataaaaaagtaaGagagaacaataaggatgagg	21	8	10	2	0	1	4	1	1	0	3	1	6	1	5	0	2	1	1	0	2	8	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.659C>T	p.Ser220Phe	p.S220F	ENST00000532411	1/1	254	176	78	225	225	0	strelka-varscan-mutect	OR56A5,missense_variant,p.Ser220Phe,ENST00000532411,NM_001146033.1;OR56A5,missense_variant,p.Ser152Phe,ENST00000340110,;	A	ENST00000532411	Transcript	missense_variant	659/942	659/942	220/313	S/F	tCt/tTt		1		-1	OR56A5	HGNC	HGNC:14792	protein_coding	YES	CCDS73248.1	ENSP00000481594	P0C7T3	A0A126GWP3	UPI00006C10F9	NM_001146033.1	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF60,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1296334592	.												A	3	1	70	5967836	5967836	G	A	1	0	0	0	0	1	0	0	0	11208	942	33	3		3	OR56A5	11	5967836	Missense_Mutation	SNP	G	C3N-01030_TP	83138	5967836	129118786	454	22631											
DCHS1	0	.	GRCh38	chr11	6622164	6622164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccagtggttggaactgaGggcaccagctcagcaggtag	9	7	16	9	0	1	1	1	1	0	0	1	2	1	2	2	5	3	5	2	5	2	2	rs748691401		C3N-01030_TP	C3N-01030_NB	G	G																c.9512C>A	p.Pro3171His	p.P3171H	ENST00000299441	21/21	169	150	19	134	134	0	strelka-varscan-mutect	DCHS1,missense_variant,p.Pro3171His,ENST00000299441,NM_003737.3;TPP1,upstream_gene_variant,,ENST00000299427,NM_000391.3;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000436873,;RP11-732A19.5,non_coding_transcript_exon_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000528807,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000524788,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000428886,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000528917,;	T	ENST00000299441	Transcript	missense_variant	9924/10765	9512/9897	3171/3298	P/H	cCt/cAt	rs748691401	1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3	deleterious(0)		21/21		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF335																	MODERATE	1	SNV	1			1										PASS		rs748691401	.												T	3	4	70	6622164	6622164	G	T	1	0	0	0	0	1	0	0	0	4090	1000	35	2		2	DCHS1	11	6622164	Missense_Mutation	SNP	G	C3N-01030_TP	654328	6622164	128464458	455	22632											
OR10A2	0	.	GRCh38	chr11	6869872	6869872	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctggttaccctagctgacCccatgctacacagccccatg	8	10	7	16	0	1	1	0	1	1	0	1	1	1	1	5	1	5	3	5	1	3	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.118C>A	p.Pro40Thr	p.P40T	ENST00000307322	1/1	334	244	90	324	323	1	strelka-varscan-mutect	OR10A2,missense_variant,p.Pro40Thr,ENST00000307322,NM_001004460.1;RP11-413N10.3,intron_variant,,ENST00000637205,;	A	ENST00000307322	Transcript	missense_variant	180/1053	118/912	40/303	P/T	Ccc/Acc		1		1	OR10A2	HGNC	HGNC:8161	protein_coding	YES	CCDS31415.1	ENSP00000303862	Q9H208		UPI000015F21C	NM_001004460.1	tolerated(0.08)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	70	6869872	6869872	C	A	1	0	0	0	0	1	0	0	0	10966	623	22	2		2	OR10A2	11	6869872	Missense_Mutation	SNP	C	C3N-01030_TP	247708	6869872	128216750	456	22633											
NLRP14	0	.	GRCh38	chr11	7042513	7042513	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaagatagaaaactgttgGaacacttgttcgatgtggat	15	11	11	4	1	0	3	0	0	0	3	1	6	0	5	0	2	2	2	0	2	5	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.487G>T	p.Glu163Ter	p.E163*	ENST00000299481	4/12	218	173	45	269	268	1	strelka-varscan-mutect	NLRP14,stop_gained,p.Glu163Ter,ENST00000299481,NM_176822.3;	T	ENST00000299481	Transcript	stop_gained	833/3628	487/3282	163/1093	E/*	Gaa/Taa		1		1	NLRP14	HGNC	HGNC:22939	protein_coding	YES	CCDS7776.1	ENSP00000299481	Q86W24		UPI0000167F6E	NM_176822.3			4/12		hmmpanther:PTHR24106:SF154,hmmpanther:PTHR24106,Superfamily_domains:SSF52540																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	70	7042513	7042513	G	T	1	0	0	0	0	0	1	0	0	10513	1175	41	2		2	NLRP14	11	7042513	Nonsense_Mutation	SNP	G	C3N-01030_TP	172641	7042513	128044109	457	22634											
OR5P2	0	.	GRCh38	chr11	7796035	7796035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatgagaaagtatttttCtaacaagctctctcttcaga	13	14	5	9	0	5	2	2	1	3	2	6	3	5	2	0	0	2	2	0	0	4	5	rs868368864		C3N-01030_TP	C3N-01030_NB	C	C																c.908G>T	p.Arg303Ile	p.R303I	ENST00000329434	1/1	164	130	34	151	151	0	strelka-varscan-mutect	OR5P2,missense_variant,p.Arg303Ile,ENST00000329434,NM_153444.1;RP11-35J10.5,intron_variant,,ENST00000527565,;RP11-494M8.4,intron_variant,,ENST00000529488,;	A	ENST00000329434	Transcript	missense_variant	939/1069	908/969	303/322	R/I	aGa/aTa	rs868368864,COSM1703548	1		-1	OR5P2	HGNC	HGNC:14783	protein_coding	YES	CCDS7782.1	ENSP00000331823	Q8WZ92	A0A126GVJ7	UPI00000015AC	NM_153444.1	deleterious(0.02)		1/1		Pfam_domain:PF13853,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF179,Superfamily_domains:SSF81321											0,1						MODERATE		SNV			0,1	1										PASS		rs868368864	.												A	3	1	70	7796035	7796035	C	A	1	0	0	0	0	1	0	0	0	11247	913	32	2		2	OR5P2	11	7796035	Missense_Mutation	SNP	C	C3N-01030_TP	753522	7796035	127290587	458	22635											
NLRP10	0	.	GRCh38	chr11	7959651	7959651	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatttaattaggtttatatgTaagtattttttggtgtttcc	9	23	7	2	0	0	0	0	0	0	0	1	0	1	0	1	2	0	4	1	2	7	13	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.1961A>G	p.Tyr654Cys	p.Y654C	ENST00000328600	2/2	46	31	15	58	58	0	strelka-varscan-mutect	NLRP10,missense_variant,p.Tyr654Cys,ENST00000328600,NM_176821.3;NLRP10,downstream_gene_variant,,ENST00000526590,;	C	ENST00000328600	Transcript	missense_variant	2123/2350	1961/1968	654/655	Y/C	tAc/tGc		1		-1	NLRP10	HGNC	HGNC:21464	protein_coding	YES	CCDS7784.1	ENSP00000327763	Q86W26		UPI0000167F6C	NM_176821.3			2/2																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	7959651	7959651	T	C	1	0	0	0	0	1	0	0	0	10509	1638	57	5		5	NLRP10	11	7959651	Missense_Mutation	SNP	T	C3N-01030_TP	163616	7959651	127126971	459	22636											
TMEM41B	0	.	GRCh38	chr11	9283495	9283495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaacagccaagatcatcaGaataaatattgagttccagg	18	8	8	7	0	2	4	2	1	0	3	3	4	3	4	2	1	2	1	2	1	7	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.805C>G	p.Leu269Val	p.L269V	ENST00000528080	7/7	211	184	27	192	192	0	strelka-varscan-mutect	TMEM41B,missense_variant,p.Leu269Val,ENST00000528080,NM_015012.3;TMEM41B,missense_variant,p.Leu269Val,ENST00000611268,;TMEM41B,downstream_gene_variant,,ENST00000527813,;Metazoa_SRP,upstream_gene_variant,,ENST00000613468,;TMEM41B,missense_variant,p.Leu269Val,ENST00000299596,;TMEM41B,3_prime_UTR_variant,,ENST00000524543,;TMEM41B,non_coding_transcript_exon_variant,,ENST00000533867,;	C	ENST00000528080	Transcript	missense_variant	1144/3968	805/876	269/291	L/V	Ctg/Gtg		1		-1	TMEM41B	HGNC	HGNC:28948	protein_coding	YES	CCDS31424.1	ENSP00000433126	Q5BJD5		UPI00001C1EF6	NM_015012.3	deleterious(0.05)		7/7		hmmpanther:PTHR12677,hmmpanther:PTHR12677:SF15,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1251987984	.												C	3	2	70	9283495	9283495	G	C	1	0	0	0	0	1	0	0	0	16642	933	33	4		4	TMEM41B	11	9283495	Missense_Mutation	SNP	G	C3N-01030_TP	1323844	9283495	125803127	460	22637											
MRVI1	0	.	GRCh38	chr11	10626581	10626581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagctagccctttggggacGttctgaaaaagacaaggtag	12	9	12	8	1	2	2	1	1	1	1	2	3	2	3	1	3	2	3	1	3	5	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.753C>A	p.Asn251Lys	p.N251K	ENST00000423302	9/21	71	48	23	38	38	0	strelka-varscan-mutect	MRVI1,missense_variant,p.Asn251Lys,ENST00000423302,NM_130385.3;MRVI1,missense_variant,p.Asn243Lys,ENST00000531107,NM_001098579.2;MRVI1,missense_variant,p.Asn160Lys,ENST00000527509,NM_001100163.2;MRVI1,splice_region_variant,,ENST00000547195,NM_001206881.1;MRVI1,splice_region_variant,,ENST00000424001,;MRVI1,splice_region_variant,,ENST00000558540,NM_001100167.2;MRVI1,splice_region_variant,,ENST00000534266,;MRVI1,intron_variant,,ENST00000541483,NM_001206880.1;MRVI1,downstream_gene_variant,,ENST00000532037,;MRVI1,splice_region_variant,,ENST00000529448,;MRVI1,intron_variant,,ENST00000526414,;MRVI1,intron_variant,,ENST00000533631,;	T	ENST00000423302	Transcript	missense_variant,splice_region_variant	903/6126	753/2739	251/912	N/K	aaC/aaA		1		-1	MRVI1	HGNC	HGNC:7237	protein_coding	YES	CCDS55746.1	ENSP00000412130	Q9Y6F6		UPI0001F78343	NM_130385.3	deleterious(0.04)		9/21		hmmpanther:PTHR15352,hmmpanther:PTHR15352:SF2																	MODERATE	1	SNV	2			1										PASS		rs1436996576	.												T	3	4	70	10626581	10626581	G	T	1	0	0	0	0	1	0	0	0	9830	1159	40	1		1	MRVI1	11	10626581	Missense_Mutation	SNP	G	C3N-01030_TP	1343086	10626581	124460041	461	22638											
RASSF10	0	.	GRCh38	chr11	13010635	13010635	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagccgagattcaggaggaActcaaccagaggtggatgcg	12	6	14	9	2	3	2	3	0	0	2	3	6	3	5	2	4	4	0	2	4	2	1	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.1059A>C	p.Glu353Asp	p.E353D	ENST00000529419	1/1	185	131	54	111	110	1	strelka-varscan-mutect	RASSF10,missense_variant,p.Glu353Asp,ENST00000529419,NM_001080521.2;CTC-497E21.3,upstream_gene_variant,,ENST00000533002,;	C	ENST00000529419	Transcript	missense_variant	1059/2530	1059/1524	353/507	E/D	gaA/gaC		1		1	RASSF10	HGNC	HGNC:33984	protein_coding	YES		ENSP00000485526	A6NK89		UPI0001722D5E	NM_001080521.2	deleterious(0.01)		1/1		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF13																	MODERATE		SNV				1										PASS		.	.												C	3	2	70	13010635	13010635	A	C	1	0	0	0	0	1	0	0	0	13246	40	2	5		5	RASSF10	11	13010635	Missense_Mutation	SNP	A	C3N-01030_TP	2384054	13010635	122075987	462	22639											
RASSF10	0	.	GRCh38	chr11	13010969	13010969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggcctcaagcctgcgccGacatgtgggtggaccaggcc	6	6	15	14	2	1	0	1	0	0	0	1	2	1	1	5	4	2	0	5	4	1	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1393G>A	p.Asp465Asn	p.D465N	ENST00000529419	1/1	221	193	28	140	140	0	strelka-varscan-mutect	RASSF10,missense_variant,p.Asp465Asn,ENST00000529419,NM_001080521.2;CTC-497E21.3,upstream_gene_variant,,ENST00000533002,;	A	ENST00000529419	Transcript	missense_variant	1393/2530	1393/1524	465/507	D/N	Gac/Aac		1		1	RASSF10	HGNC	HGNC:33984	protein_coding	YES		ENSP00000485526	A6NK89		UPI0001722D5E	NM_001080521.2	tolerated(0.44)		1/1		hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF13																	MODERATE		SNV				1										PASS		.	.												A	3	1	70	13010969	13010969	G	A	1	0	0	0	0	1	0	0	0	13246	1058	37	1		1	RASSF10	11	13010969	Missense_Mutation	SNP	G	C3N-01030_TP	334	13010969	122075653	463	22640											
SPON1	0	.	GRCh38	chr11	14259625	14259625	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaagcggcaccgcatgatCaagatgaaccccgcagatgg	14	4	12	11	3	1	5	1	2	0	3	1	5	1	5	3	2	2	3	3	2	4	0			C3N-01030_TP	C3N-01030_NB	C	C																c.1755C>G	p.Ile585Met	p.I585M	ENST00000576479	13/16	190	144	46	150	150	0	strelka-varscan-mutect	SPON1,missense_variant,p.Ile585Met,ENST00000576479,NM_006108.3;RP11-21L19.1,downstream_gene_variant,,ENST00000534587,;SPON1,upstream_gene_variant,,ENST00000591785,;	G	ENST00000576479	Transcript	missense_variant	1971/4837	1755/2424	585/807	I/M	atC/atG	COSM5577770	1		1	SPON1	HGNC	HGNC:11252	protein_coding	YES	CCDS73262.1	ENSP00000460236	Q9HCB6		UPI000044404A	NM_006108.3	tolerated(0.12)		13/16		PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF18,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	70	14259625	14259625	C	G	1	0	0	0	0	1	0	0	0	15435	816	29	4		4	SPON1	11	14259625	Missense_Mutation	SNP	C	C3N-01030_TP	1248656	14259625	120826997	464	22641											
PLEKHA7	0	.	GRCh38	chr11	16816816	16816816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttgacagcgtggcccCgtgccctccttggagaatcc	6	9	10	16	2	1	2	1	1	0	1	3	3	3	2	6	2	2	0	6	2	1	2	rs746658901		C3N-01030_TP	C3N-01030_NB	C	C																c.1850G>T	p.Arg617Leu	p.R617L	ENST00000355661	11/23	136	112	24	94	93	1	strelka-varscan-mutect	PLEKHA7,missense_variant,p.Arg617Leu,ENST00000355661,NM_175058.4;PLEKHA7,missense_variant,p.Arg617Leu,ENST00000531066,;PLEKHA7,missense_variant,p.Arg248Leu,ENST00000530489,;PLEKHA7,missense_variant,p.Arg516Leu,ENST00000637162,;PLEKHA7,intron_variant,,ENST00000532079,;PLEKHA7,upstream_gene_variant,,ENST00000636113,;PLEKHA7,upstream_gene_variant,,ENST00000525581,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000525781,;PLEKHA7,upstream_gene_variant,,ENST00000525049,;	A	ENST00000355661	Transcript	missense_variant	1861/4980	1850/3366	617/1121	R/L	cGg/cTg	rs746658901	1		-1	PLEKHA7	HGNC	HGNC:27049	protein_coding	YES	CCDS31434.1	ENSP00000347883	Q6IQ23		UPI0000456498	NM_175058.4	tolerated(0.14)		11/23		hmmpanther:PTHR12752:SF4,hmmpanther:PTHR12752																	MODERATE	1	SNV	1			1										PASS		rs746658901	.												A	3	1	70	16816816	16816816	C	A	1	0	0	0	0	1	0	0	0	12154	652	23	1		1	PLEKHA7	11	16816816	Missense_Mutation	SNP	C	C3N-01030_TP	2557191	16816816	118269806	465	22642											
OTOG	0	.	GRCh38	chr11	17576597	17576597	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagggagtggactatccccCcggagacagtgacatcccat	10	6	11	14	1	0	2	0	1	0	1	2	5	2	4	5	3	0	0	5	3	1	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2564C>A	p.Pro855His	p.P855H	ENST00000399391	20/55	188	134	54	153	153	0	strelka-varscan-mutect	OTOG,missense_variant,p.Pro843His,ENST00000399397,NM_001292063.1;OTOG,missense_variant,p.Pro855His,ENST00000399391,NM_001277269.1;OTOG,upstream_gene_variant,,ENST00000342528,;	A	ENST00000399391	Transcript	missense_variant	2564/8778	2564/8778	855/2925	P/H	cCc/cAc		1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1	deleterious(0)		20/55		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228,Gene3D:2.10.25.10																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	17576597	17576597	C	A	1	0	0	0	0	1	0	0	0	11370	623	22	2		2	OTOG	11	17576597	Missense_Mutation	SNP	C	C3N-01030_TP	759781	17576597	117510025	466	22643											
OTOG	0	.	GRCh38	chr11	17635705	17635708	+	Frame_Shift_Del	DEL	CAGT	CAGT	-																															aactctgctgccctctgtacCagtgtggtgagtcctggctg																								novel		C3N-01030_TP	C3N-01030_NB	CAGT	CAGT																c.7825_7828delCAGT	p.Gln2609ValfsTer74	p.Q2609Vfs*74	ENST00000399391	46/55	164	121	43	153	153	0	sindel-varindel-pindel	OTOG,frameshift_variant,p.Gln2597ValfsTer74,ENST00000399397,NM_001292063.1;OTOG,frameshift_variant,p.Gln2609ValfsTer74,ENST00000399391,NM_001277269.1;OTOG,frameshift_variant,p.Gln1473ValfsTer?,ENST00000342528,;	-	ENST00000399391	Transcript	frameshift_variant	7825-7828/8778	7825-7828/8778	2609-2610/2925	QC/X	CAGTgt/gt		1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1			46/55		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	70	17635705	17635705	CAGT	-	1	0	1	0	1	0	0	0	0	11370	595	21	0		0	OTOG	11	17635705	Frame_Shift_Del	DEL	CAGT	C3N-01030_TP	59108	17635705	117450917	467	22644											
PTPN5	0	.	GRCh38	chr11	18744083	18744083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagcgcctcgaggtggtgGcttctgagctggatctgagg	5	9	16	11	2	2	2	0	2	2	0	3	4	2	3	2	5	2	2	2	5	0	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.214C>A	p.Pro72Thr	p.P72T	ENST00000358540	4/15	151	118	33	107	107	0	strelka-varscan-mutect	PTPN5,missense_variant,p.Pro72Thr,ENST00000396170,NM_001039970.1,NM_001278236.1;PTPN5,missense_variant,p.Pro72Thr,ENST00000358540,NM_032781.3,NM_006906.1;PTPN5,missense_variant,p.Pro48Thr,ENST00000396168,NM_001278238.1,NM_001278239.1;PTPN5,upstream_gene_variant,,ENST00000477854,;RP11-1081L13.4,downstream_gene_variant,,ENST00000527285,;PTPN5,non_coding_transcript_exon_variant,,ENST00000496201,;	T	ENST00000358540	Transcript	missense_variant	645/3135	214/1698	72/565	P/T	Cca/Aca		1		-1	PTPN5	HGNC	HGNC:9657	protein_coding	YES	CCDS7845.1	ENSP00000351342	P54829		UPI00001AE663	NM_032781.3,NM_006906.1	tolerated_low_confidence(0.27)		4/15		Low_complexity_(Seg):seg,hmmpanther:PTHR19134:SF40,hmmpanther:PTHR19134,PIRSF_domain:PIRSF001997																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	18744083	18744083	G	T	1	0	0	0	0	1	0	0	0	12945	1203	42	2		2	PTPN5	11	18744083	Missense_Mutation	SNP	G	C3N-01030_TP	1108378	18744083	116342539	468	22645											
NELL1	0	.	GRCh38	chr11	20928385	20928385	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcctcagagtggtgcCgtggaatgccgaaggatgtc	7	11	13	10	2	1	1	1	0	0	1	4	4	3	3	4	3	2	0	4	3	2	2	rs746083104		C3N-01030_TP	C3N-01030_NB	C	C																c.987C>A	p.=	p.A329A	ENST00000298925	10/21	406	321	85	380	380	0	strelka-varscan-mutect	NELL1,synonymous_variant,p.=,ENST00000298925,NM_001288713.1;NELL1,synonymous_variant,p.=,ENST00000325319,NM_001288714.1;NELL1,synonymous_variant,p.=,ENST00000357134,NM_006157.4;NELL1,synonymous_variant,p.=,ENST00000532434,NM_201551.2;NELL1,non_coding_transcript_exon_variant,,ENST00000528495,;	A	ENST00000298925	Transcript	synonymous_variant	1140/3329	987/2517	329/838	A	gcC/gcA	rs746083104	1		1	NELL1	HGNC	HGNC:7750	protein_coding	YES	CCDS73267.1	ENSP00000298925		J3KNC5	UPI0000228C6F	NM_001288713.1			10/21		Gene3D:2.10.70.10,Pfam_domain:PF00093,PROSITE_patterns:PS01208,PROSITE_profiles:PS50184,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603																	LOW	1	SNV	2			1										PASS		rs746083104	.												A	2	1	70	20928385	20928385	C	A	1	0	0	0	0	0	0	0	1	10364	639	23	1		1	NELL1	11	20928385	Silent	SNP	C	C3N-01030_TP	2184302	20928385	114158237	469	22646											
NELL1	0	.	GRCh38	chr11	21560358	21560358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggaccttgaaagaagaCaggtgttctgtctgctcctg	8	12	13	8	0	2	3	0	1	2	2	3	4	3	4	2	2	1	2	2	2	2	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2040C>A	p.Asp680Glu	p.D680E	ENST00000298925	18/21	75	60	15	89	89	0	strelka-varscan-mutect	NELL1,missense_variant,p.Asp680Glu,ENST00000298925,NM_001288713.1;NELL1,missense_variant,p.Asp595Glu,ENST00000325319,NM_001288714.1;NELL1,missense_variant,p.Asp652Glu,ENST00000357134,NM_006157.4;NELL1,missense_variant,p.Asp605Glu,ENST00000532434,NM_201551.2;NELL1,intron_variant,,ENST00000529218,;	A	ENST00000298925	Transcript	missense_variant	2193/3329	2040/2517	680/838	D/E	gaC/gaA		1		1	NELL1	HGNC	HGNC:7750	protein_coding	YES	CCDS73267.1	ENSP00000298925		J3KNC5	UPI0000228C6F	NM_001288713.1	tolerated(0.08)		18/21		Gene3D:2.10.70.10,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,SMART_domains:SM00214																	MODERATE	1	SNV	2			1										PASS		rs1033687418	.												A	3	1	70	21560358	21560358	C	A	1	0	0	0	0	1	0	0	0	10364	477	17	2		2	NELL1	11	21560358	Missense_Mutation	SNP	C	C3N-01030_TP	631973	21560358	113526264	470	22647											
SLC17A6	0	.	GRCh38	chr11	22377513	22377513	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaacaaccctgggcagacCcggaggaaacaagtgaagaa	18	2	12	9	1	0	4	0	1	0	3	0	6	0	6	2	3	3	1	2	3	6	0			C3N-01030_TP	C3N-01030_NB	C	C																c.1522C>A	p.Pro508Thr	p.P508T	ENST00000263160	12/12	223	175	48	216	214	2	strelka-varscan-mutect	SLC17A6,missense_variant,p.Pro508Thr,ENST00000263160,NM_020346.2;	A	ENST00000263160	Transcript	missense_variant	1959/3949	1522/1749	508/582	P/T	Ccg/Acg	COSM4795408	1		1	SLC17A6	HGNC	HGNC:16703	protein_coding	YES	CCDS7856.1	ENSP00000263160	Q9P2U8		UPI0000073F14	NM_020346.2	deleterious(0.01)		12/12		hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF201											1						MODERATE	1	SNV	1		1	1										PASS		rs1409446098	.												A	3	1	70	22377513	22377513	C	A	1	0	0	0	0	1	0	0	0	14686	623	22	2		2	SLC17A6	11	22377513	Missense_Mutation	SNP	C	C3N-01030_TP	817155	22377513	112709109	471	22648											
SLC5A12	0	.	GRCh38	chr11	26698441	26698441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgatgccagaagtccaagGgtcacagtctttaaagtgag	13	9	12	7	0	2	3	1	2	1	1	3	4	3	3	2	1	1	0	2	1	4	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.916C>A	p.Pro306Thr	p.P306T	ENST00000396005	7/15	177	134	43	134	134	0	strelka-varscan-mutect	SLC5A12,missense_variant,p.Pro306Thr,ENST00000396005,NM_178498.3;SLC5A12,missense_variant,p.Pro306Thr,ENST00000280467,;SLC5A12,missense_variant,p.Pro118Thr,ENST00000533617,;SLC5A12,missense_variant,p.Pro118Thr,ENST00000527405,;	T	ENST00000396005	Transcript	missense_variant	1226/6250	916/1857	306/618	P/T	Cct/Act		1		-1	SLC5A12	HGNC	HGNC:28750	protein_coding	YES	CCDS7860.2	ENSP00000379326	Q1EHB4		UPI000003ED2C	NM_178498.3	deleterious(0)		7/15		PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF152,Pfam_domain:PF00474,TIGRFAM_domain:TIGR00813																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	26698441	26698441	G	T	1	0	0	0	0	1	0	0	0	14947	1232	43	2		2	SLC5A12	11	26698441	Missense_Mutation	SNP	G	C3N-01030_TP	4320928	26698441	108388181	472	22649											
DCDC1	0	.	GRCh38	chr11	30931822	30931822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaggatagtaacggatctgTttttattcttctctccattc	9	17	6	9	1	3	0	0	0	3	0	6	2	4	2	1	2	1	2	1	2	4	8	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.167A>C	p.Asn56Thr	p.N56T	ENST00000406071	3/20	177	135	42	180	180	0	strelka-varscan-mutect	DCDC1,missense_variant,p.Asn949Thr,ENST00000597505,;DCDC1,missense_variant,p.Asn56Thr,ENST00000406071,NM_020869.3;DCDC1,non_coding_transcript_exon_variant,,ENST00000437348,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;	G	ENST00000406071	Transcript	missense_variant	483/4758	167/2673	56/890	N/T	aAc/aCc		1		-1	DCDC1	HGNC	HGNC:20625	protein_coding	YES	CCDS73270.1	ENSP00000385936		B6ZDN3	UPI0001FB41A5	NM_020869.3	tolerated(0.32)		3/20		PROSITE_profiles:PS50309,hmmpanther:PTHR14958:SF27,hmmpanther:PTHR14958,Gene3D:1mfwA00,SMART_domains:SM00537,Superfamily_domains:SSF89837																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	70	30931822	30931822	T	G	1	0	0	0	0	1	0	0	0	4086	1725	60	5		5	DCDC1	11	30931822	Missense_Mutation	SNP	T	C3N-01030_TP	4233381	30931822	104154800	473	22650											
PAX6	0	.	GRCh38	chr11	31794659	31794659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcctcaatttgctcttggGtaaaggatgttctatttctt	7	17	10	7	0	4	0	1	0	3	0	4	1	4	1	1	3	1	3	1	3	4	7	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.695C>T	p.Thr232Ile	p.T232I	ENST00000419022	9/14	350	290	60	322	322	0	strelka-varscan-mutect	PAX6,missense_variant,p.Thr232Ile,ENST00000419022,NM_001310158.1,NM_001310161.1,NM_001258462.1;PAX6,missense_variant,p.Thr232Ile,ENST00000606377,NM_001310161.1,NM_001258463.1;PAX6,missense_variant,p.Thr232Ile,ENST00000379129,;PAX6,missense_variant,p.Thr232Ile,ENST00000379107,;PAX6,missense_variant,p.Thr218Ile,ENST00000379132,NM_001127612.1;PAX6,missense_variant,p.Thr218Ile,ENST00000379123,NM_001258464.1,NM_000280.4;PAX6,missense_variant,p.Thr218Ile,ENST00000379109,;PAX6,missense_variant,p.Thr232Ile,ENST00000379115,NM_001604.5;PAX6,missense_variant,p.Thr218Ile,ENST00000241001,;PAX6,missense_variant,p.Thr218Ile,ENST00000379111,NM_001258465.1;PAX6,downstream_gene_variant,,ENST00000455099,;PAX6,non_coding_transcript_exon_variant,,ENST00000471303,;PAX6,non_coding_transcript_exon_variant,,ENST00000531910,;PAX6,non_coding_transcript_exon_variant,,ENST00000530373,;PAX6,non_coding_transcript_exon_variant,,ENST00000533333,;PAX6,non_coding_transcript_exon_variant,,ENST00000470027,;PAX6,non_coding_transcript_exon_variant,,ENST00000494377,;PAX6,non_coding_transcript_exon_variant,,ENST00000464174,;PAX6,upstream_gene_variant,,ENST00000474783,;PAX6,upstream_gene_variant,,ENST00000532916,;	A	ENST00000419022	Transcript	missense_variant	1164/6922	695/1311	232/436	T/I	aCc/aTc		1		-1	PAX6	HGNC	HGNC:8620	protein_coding	YES	CCDS31452.1	ENSP00000404100	P26367	F1T0F8	UPI000002B0A0	NM_001310158.1,NM_001310161.1,NM_001258462.1	deleterious(0)		9/14		Gene3D:1.10.10.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF294,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	31794659	31794659	G	A	1	0	0	0	0	1	0	0	0	11568	1261	44	3		3	PAX6	11	31794659	Missense_Mutation	SNP	G	C3N-01030_TP	862837	31794659	103291963	474	22651											
FBXO3	0	.	GRCh38	chr11	33747309	33747309	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacccgacctgggctgatgaTtggaaattcacctgcaggga	10	9	12	10	1	1	2	1	2	0	0	1	5	1	4	3	3	2	2	3	3	2	3	rs777801349		C3N-01030_TP	C3N-01030_NB	T	T																c.1060A>T	p.Ile354Phe	p.I354F	ENST00000265651	10/11	209	172	37	210	210	0	strelka-varscan-mutect	FBXO3,missense_variant,p.Ile349Phe,ENST00000530401,;FBXO3,missense_variant,p.Ile241Phe,ENST00000526785,;FBXO3,missense_variant,p.Ile354Phe,ENST00000534136,;FBXO3,missense_variant,p.Ile354Phe,ENST00000265651,NM_012175.3;FBXO3,missense_variant,p.Ile354Phe,ENST00000448981,NM_033406.2;FBXO3,missense_variant,p.Ile41Phe,ENST00000531080,;FBXO3,missense_variant,p.Ile41Phe,ENST00000532057,;FBXO3,non_coding_transcript_exon_variant,,ENST00000527772,;FBXO3,3_prime_UTR_variant,,ENST00000532927,;FBXO3,non_coding_transcript_exon_variant,,ENST00000530013,;	A	ENST00000265651	Transcript	missense_variant	1079/2397	1060/1416	354/471	I/F	Atc/Ttc	rs777801349	1		-1	FBXO3	HGNC	HGNC:13582	protein_coding	YES	CCDS7887.1	ENSP00000265651	Q9UK99		UPI000000DB30	NM_012175.3	deleterious(0)		10/11		PROSITE_profiles:PS51087,hmmpanther:PTHR14289,hmmpanther:PTHR14289:SF16,Gene3D:1xvsA00,Pfam_domain:PF04379,Superfamily_domains:SSF110069																	MODERATE	1	SNV	1			1										PASS		rs777801349	.												A	3	1	70	33747309	33747309	T	A	1	0	0	0	0	1	0	0	0	5602	1493	52	4		4	FBXO3	11	33747309	Missense_Mutation	SNP	T	C3N-01030_TP	1952650	33747309	101339313	475	22652											
LMO2	0	.	GRCh38	chr11	33859441	33859441	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggaggtatctgtcacctAcacagaaatgcttctgacag	12	10	10	9	0	3	3	1	2	2	1	3	4	3	4	1	2	2	2	1	2	3	3	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.599T>A	p.Val200Glu	p.V200E	ENST00000257818	6/6	334	253	81	224	223	1	strelka-varscan-mutect	LMO2,missense_variant,p.Val200Glu,ENST00000257818,NM_005574.3;LMO2,missense_variant,p.Val131Glu,ENST00000395833,NM_001142315.1,NM_001142316.1;LMO2,3_prime_UTR_variant,,ENST00000411482,;LMO2,non_coding_transcript_exon_variant,,ENST00000464025,;	T	ENST00000257818	Transcript	missense_variant	1429/2294	599/684	200/227	V/E	gTa/gAa		1		-1	LMO2	HGNC	HGNC:6642	protein_coding	YES	CCDS7888.2	ENSP00000257818	P25791		UPI00001F9F84	NM_005574.3	deleterious(0)		6/6		PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF109,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	33859441	33859441	A	T	1	0	0	0	0	1	0	0	0	8778	391	14	4		4	LMO2	11	33859441	Missense_Mutation	SNP	A	C3N-01030_TP	112132	33859441	101227181	476	22653											
CD44	0	.	GRCh38	chr11	35189947	35189947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgagcagcggctcctcCagtgaaaggagcagcacttc	10	6	13	12	2	0	2	0	2	0	0	3	4	2	3	2	2	4	4	2	2	1	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.549C>T	p.=	p.S183S	ENST00000428726	5/18	434	319	115	362	362	0	strelka-varscan-mutect	CD44,synonymous_variant,p.=,ENST00000263398,NM_001001391.1;CD44,synonymous_variant,p.=,ENST00000428726,NM_000610.3;CD44,synonymous_variant,p.=,ENST00000415148,NM_001001389.1;CD44,synonymous_variant,p.=,ENST00000433892,NM_001001390.1;CD44,synonymous_variant,p.=,ENST00000442151,NM_001202557.1;CD44,synonymous_variant,p.=,ENST00000434472,NM_001202555.1;CD44,synonymous_variant,p.=,ENST00000352818,NM_001202556.1;CD44,synonymous_variant,p.=,ENST00000279452,;CD44,synonymous_variant,p.=,ENST00000531110,;CD44,synonymous_variant,p.=,ENST00000525211,;CD44,synonymous_variant,p.=,ENST00000525685,;CD44,synonymous_variant,p.=,ENST00000526000,;CD44,synonymous_variant,p.=,ENST00000278385,;CD44,synonymous_variant,p.=,ENST00000528455,;CD44,synonymous_variant,p.=,ENST00000531873,;CD44,synonymous_variant,p.=,ENST00000533222,;CD44,synonymous_variant,p.=,ENST00000525688,;CD44,synonymous_variant,p.=,ENST00000527889,;CD44,intron_variant,,ENST00000526669,;CD44,intron_variant,,ENST00000278386,NM_001001392.1;CD44,upstream_gene_variant,,ENST00000524922,;CD44,non_coding_transcript_exon_variant,,ENST00000525209,;CD44,intron_variant,,ENST00000528086,;CD44,3_prime_UTR_variant,,ENST00000425428,;CD44,non_coding_transcript_exon_variant,,ENST00000531118,;CD44,non_coding_transcript_exon_variant,,ENST00000534296,;CD44,non_coding_transcript_exon_variant,,ENST00000525241,;	T	ENST00000428726	Transcript	synonymous_variant	672/3046	549/2229	183/742	S	tcC/tcT		1		1	CD44	HGNC	HGNC:1681	protein_coding	YES	CCDS7897.1	ENSP00000398632	P16070		UPI000013D3FE	NM_000610.3			5/18		hmmpanther:PTHR10225,hmmpanther:PTHR10225:SF6,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	35189947	35189947	C	T	1	0	0	0	0	0	0	0	1	2721	581	21	3		3	CD44	11	35189947	Silent	SNP	C	C3N-01030_TP	1330506	35189947	99896675	477	22654											
LRRC4C	0	.	GRCh38	chr11	40116219	40116219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagcagcaccacaagcaggGggtcaaatagggccctgtta	12	5	12	12	0	1	0	1	0	0	0	1	0	1	0	3	3	3	4	3	3	4	2			C3N-01030_TP	C3N-01030_NB	G	G																c.74C>A	p.Pro25His	p.P25H	ENST00000278198	2/2	120	92	28	113	113	0	strelka-varscan-mutect	LRRC4C,missense_variant,p.Pro25His,ENST00000278198,;LRRC4C,missense_variant,p.Pro25His,ENST00000527150,;LRRC4C,missense_variant,p.Pro25His,ENST00000530763,NM_020929.2;LRRC4C,missense_variant,p.Pro25His,ENST00000528697,NM_001258419.1;LRRC4C,missense_variant,p.Pro25His,ENST00000619527,;LRRC4C,missense_variant,p.Pro25His,ENST00000533474,;RP11-454H19.2,upstream_gene_variant,,ENST00000624239,;	T	ENST00000278198	Transcript	missense_variant	2038/4054	74/1923	25/640	P/H	cCc/cAc	COSM3447230	1		-1	LRRC4C	HGNC	HGNC:29317	protein_coding	YES	CCDS31464.1	ENSP00000278198	Q9HCJ2		UPI000000D9A7		tolerated_low_confidence(0.15)		2/2		Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF8											1						MODERATE	1	SNV	1		1	1										PASS		rs1450656731	.												T	3	4	70	40116219	40116219	G	T	1	0	0	0	0	1	0	0	0	8903	1232	43	2		2	LRRC4C	11	40116219	Missense_Mutation	SNP	G	C3N-01030_TP	4926272	40116219	94970403	478	22655											
RAPSN	0	.	GRCh38	chr11	47438805	47438805	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctatggactcgccgcacaGgccgcagtagagctccgtct	7	7	12	15	4	1	1	0	0	1	1	3	2	2	2	4	2	1	4	4	2	2	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1093C>G	p.Leu365Val	p.L365V	ENST00000298854	7/8	97	64	33	67	67	0	strelka-varscan-mutect	RAPSN,missense_variant,p.Leu365Val,ENST00000298854,NM_005055.4;RAPSN,missense_variant,p.Leu312Val,ENST00000524487,;RAPSN,missense_variant,p.Leu306Val,ENST00000352508,NM_032645.4;RAPSN,missense_variant,p.Leu306Val,ENST00000529341,;RAPSN,intron_variant,,ENST00000528356,;	C	ENST00000298854	Transcript	missense_variant	1307/1671	1093/1239	365/412	L/V	Ctg/Gtg		1		-1	RAPSN	HGNC	HGNC:9863	protein_coding	YES	CCDS7936.1	ENSP00000298854	Q13702	A0A0S2Z4F8	UPI0000071D46	NM_005055.4	tolerated(0.94)		7/8		PROSITE_profiles:PS50089,hmmpanther:PTHR10098,Gene3D:3.30.40.10,Pfam_domain:PF13639,SMART_domains:SM00184,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	47438805	47438805	G	C	1	0	0	0	0	1	0	0	0	13210	991	35	4		4	RAPSN	11	47438805	Missense_Mutation	SNP	G	C3N-01030_TP	7322586	47438805	87647817	479	22656											
FOLH1	0	.	GRCh38	chr11	49146929	49146929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atacttgttgtggctgcttgGagcatagatgacatgcctgt	8	14	12	7	0	0	2	0	1	0	1	0	3	0	3	1	2	4	4	1	2	2	5	rs200462865		C3N-01030_TP	C3N-01030_NB	G	G																c.2080C>T	p.Pro694Ser	p.P694S	ENST00000256999	19/19	70	57	13	67	67	0	strelka-varscan-mutect	FOLH1,missense_variant,p.Pro679Ser,ENST00000340334,NM_001193471.1;FOLH1,missense_variant,p.Pro694Ser,ENST00000256999,NM_004476.1;FOLH1,missense_variant,p.Pro663Ser,ENST00000356696,NM_001014986.1;FOLH1,missense_variant,p.Pro386Ser,ENST00000343844,NM_001193473.1;FOLH1,missense_variant,p.Pro648Ser,ENST00000533034,NM_001193472.1;FOLH1,3_prime_UTR_variant,,ENST00000525826,;FOLH1,non_coding_transcript_exon_variant,,ENST00000458311,;	A	ENST00000256999	Transcript	missense_variant	2341/2635	2080/2253	694/750	P/S	Cca/Tca	rs200462865	1		-1	FOLH1	HGNC	HGNC:3788	protein_coding	YES	CCDS7946.1	ENSP00000256999	Q04609		UPI0000000A01	NM_004476.1	deleterious(0)		19/19		Gene3D:3kasA03,Pfam_domain:PF04253,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF36,Superfamily_domains:SSF47672																	MODERATE	1	SNV	1			1										PASS		rs200462865	.												A	3	1	70	49146929	49146929	G	A	1	0	0	0	0	1	0	0	0	5840	1174	41	3		3	FOLH1	11	49146929	Missense_Mutation	SNP	G	C3N-01030_TP	1708124	49146929	85939693	480	22657											
FOLH1	0	.	GRCh38	chr11	49154339	49154339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcgacaatcaaaagggaGcactatggaattggctagct	14	9	10	8	1	2	0	1	0	1	0	3	3	2	2	0	3	2	3	0	3	6	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1777C>A	p.Leu593Ile	p.L593I	ENST00000256999	16/19	173	134	39	211	211	0	strelka-varscan-mutect	FOLH1,missense_variant,p.Leu578Ile,ENST00000340334,NM_001193471.1;FOLH1,missense_variant,p.Leu593Ile,ENST00000256999,NM_004476.1;FOLH1,missense_variant,p.Leu593Ile,ENST00000356696,NM_001014986.1;FOLH1,missense_variant,p.Leu285Ile,ENST00000343844,NM_001193473.1;FOLH1,missense_variant,p.Leu578Ile,ENST00000533034,NM_001193472.1;FOLH1,3_prime_UTR_variant,,ENST00000525826,;FOLH1,non_coding_transcript_exon_variant,,ENST00000458311,;FOLH1,non_coding_transcript_exon_variant,,ENST00000532018,;	T	ENST00000256999	Transcript	missense_variant	2038/2635	1777/2253	593/750	L/I	Ctc/Atc		1		-1	FOLH1	HGNC	HGNC:3788	protein_coding	YES	CCDS7946.1	ENSP00000256999	Q04609		UPI0000000A01	NM_004476.1	tolerated(0.58)		16/19		Gene3D:3.40.630.10,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF36																	MODERATE	1	SNV	1			1										PASS		rs1175189208	.												T	3	4	70	49154339	49154339	G	T	1	0	0	0	0	1	0	0	0	5840	971	34	2		2	FOLH1	11	49154339	Missense_Mutation	SNP	G	C3N-01030_TP	7410	49154339	85932283	481	22658											
OR8H1	0	.	GRCh38	chr11	56290726	56290726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataggccattgatgagagaaGaaaacattcagcagctccca	16	7	9	9	0	1	4	1	2	0	2	2	5	2	4	2	1	3	2	2	1	4	3	rs746476605		C3N-01030_TP	C3N-01030_NB	G	G																c.337C>T	p.Leu113Phe	p.L113F	ENST00000313022	1/1	124	111	13	168	168	0	strelka-varscan-mutect	OR8H1,missense_variant,p.Leu113Phe,ENST00000313022,NM_001005199.1;OR8H1,missense_variant,p.Leu109Phe,ENST00000610894,;	A	ENST00000313022	Transcript	missense_variant	365/1038	337/936	113/311	L/F	Ctt/Ttt	rs746476605,COSM3791579	1		-1	OR8H1	HGNC	HGNC:14824	protein_coding	YES	CCDS31526.1	ENSP00000323595	Q8NGG4	A0A126GVW6	UPI0000041BC0	NM_001005199.1	deleterious(0.02)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF11,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											0,1						MODERATE	1	SNV			0,1	1										PASS		rs746476605	.												A	3	1	70	56290726	56290726	G	A	1	0	0	0	0	1	0	0	0	11305	942	33	3		3	OR8H1	11	56290726	Missense_Mutation	SNP	G	C3N-01030_TP	7136387	56290726	78795896	482	22659											
OR5M9	0	.	GRCh38	chr11	56462697	56462697	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggacccacaggtggagaaCgccttcctcctgccatcggc	7	7	12	15	2	0	1	0	0	0	1	3	3	2	2	5	4	2	0	5	4	1	1	rs373884757		C3N-01030_TP	C3N-01030_NB	C	C																c.705G>T	p.=	p.A235A	ENST00000279791	1/1	120	101	19	132	132	0	strelka-varscan-mutect	OR5M9,synonymous_variant,p.=,ENST00000279791,NM_001004743.1;	A	ENST00000279791	Transcript	synonymous_variant	705/933	705/933	235/310	A	gcG/gcT	rs373884757	1		-1	OR5M9	HGNC	HGNC:15294	protein_coding	YES	CCDS31531.1	ENSP00000279791	Q8NGP3	A0A126GVK6	UPI0000061E81	NM_001004743.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF13,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs373884757	.												A	2	1	70	56462697	56462697	C	A	1	0	0	0	0	0	0	0	1	11246	523	19	1		1	OR5M9	11	56462697	Silent	SNP	C	C3N-01030_TP	171971	56462697	78623925	483	22660											
SERPING1	0	.	GRCh38	chr11	57614460	57614460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggcggctgcagcctccgCcatctctgtggcccgcaccc	4	6	13	18	3	1	0	0	0	1	0	3	1	2	1	5	4	2	3	5	4	0	0			C3N-01030_TP	C3N-01030_NB	C	C																c.1382C>T	p.Ala461Val	p.A461V	ENST00000278407	8/8	208	148	60	158	158	0	strelka-varscan-mutect	SERPING1,missense_variant,p.Ala504Val,ENST00000403558,;SERPING1,missense_variant,p.Ala461Val,ENST00000278407,NM_000062.2,NM_001032295.1;SERPING1,missense_variant,p.Ala409Val,ENST00000378324,;SERPING1,missense_variant,p.Ala466Val,ENST00000378323,;SERPING1,missense_variant,p.Ala424Val,ENST00000340687,;SERPING1,3_prime_UTR_variant,,ENST00000619430,;SERPING1,3_prime_UTR_variant,,ENST00000531133,;SERPING1,3_prime_UTR_variant,,ENST00000528996,;SERPING1,3_prime_UTR_variant,,ENST00000531797,;SERPING1,non_coding_transcript_exon_variant,,ENST00000530113,;	T	ENST00000278407	Transcript	missense_variant	1609/2002	1382/1503	461/500	A/V	gCc/gTc	CM973246	1		1	SERPING1	HGNC	HGNC:1228	protein_coding	YES	CCDS7962.1	ENSP00000278407	P05155	E9KL26	UPI000000123F	NM_000062.2,NM_001032295.1	tolerated(0.14)		8/8		Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF159,Low_complexity_(Seg):seg,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	70	57614460	57614460	C	T	1	0	0	0	0	1	0	0	0	14392	739	26	3		3	SERPING1	11	57614460	Missense_Mutation	SNP	C	C3N-01030_TP	1151763	57614460	77472162	484	22661											
OR9Q2	0	.	GRCh38	chr11	58190543	58190543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcttccttactgcatttaCtgaacatctccagtggaggg	8	14	9	10	0	2	1	0	1	2	0	4	2	3	2	2	2	4	2	2	2	3	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.53C>A	p.Thr18Asn	p.T18N	ENST00000311591	1/1	96	72	24	115	115	0	strelka-varscan-mutect	OR9Q2,missense_variant,p.Thr18Asn,ENST00000311591,NM_001005283.2;	A	ENST00000311591	Transcript	missense_variant	110/1085	53/945	18/314	T/N	aCt/aAt		1		1	OR9Q2	HGNC	HGNC:15328	protein_coding	YES	CCDS31544.1	ENSP00000308714	Q8NGE9	A0A126GW85	UPI0000061ECB	NM_001005283.2	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF155,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1216792493	.												A	3	1	70	58190543	58190543	C	A	1	0	0	0	0	1	0	0	0	11322	565	20	2		2	OR9Q2	11	58190543	Missense_Mutation	SNP	C	C3N-01030_TP	576083	58190543	76896079	485	22662											
OR5B17	0	.	GRCh38	chr11	58358824	58358824	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctttgtcttctataagcaaCccagttaaaacctttggagt	11	14	7	9	0	2	0	0	0	2	0	2	1	2	1	2	1	3	3	2	1	5	6	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.246G>T	p.=	p.G82G	ENST00000357377	1/1	173	154	19	204	204	0	strelka-varscan-mutect	OR5B17,synonymous_variant,p.=,ENST00000357377,NM_001005489.1;AP000435.3,upstream_gene_variant,,ENST00000528539,;	A	ENST00000357377	Transcript	synonymous_variant	246/946	246/945	82/314	G	ggG/ggT		1		-1	OR5B17	HGNC	HGNC:15267	protein_coding	YES	CCDS31548.1	ENSP00000349945	Q8NGF7	A0A126GVL8	UPI0000041DFA	NM_001005489.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF185,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	70	58358824	58358824	C	A	1	0	0	0	0	0	0	0	1	11220	494	18	2		2	OR5B17	11	58358824	Silent	SNP	C	C3N-01030_TP	168281	58358824	76727798	486	22663											
AHNAK	0	.	GRCh38	chr11	62524663	62524663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggccttttatgtcaagagCaggtcctttcaaatcacctt	9	14	8	10	0	3	1	3	0	0	1	4	1	4	1	3	2	1	1	3	2	3	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.9754G>T	p.Ala3252Ser	p.A3252S	ENST00000378024	5/5	265	203	62	315	315	0	strelka-varscan-mutect	AHNAK,missense_variant,p.Ala3252Ser,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	A	ENST00000378024	Transcript	missense_variant	10029/18787	9754/17673	3252/5890	A/S	Gct/Tct		1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2	tolerated(0.43)		5/5																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	70	62524663	62524663	C	A	1	0	0	0	0	1	0	0	0	491	710	25	2		2	AHNAK	11	62524663	Missense_Mutation	SNP	C	C3N-01030_TP	4165839	62524663	72561959	487	22664											
AHNAK	0	.	GRCh38	chr11	62526241	62526241	+	Frame_Shift_Del	DEL	C	C	-																															cactttaggaagggaaacatCcacatcacccttcactttgg																								rs749354718		C3N-01030_TP	C3N-01030_NB	C	C																c.8176delG	p.Asp2726MetfsTer39	p.D2726Mfs*39	ENST00000378024	5/5	218	165	53	267	267	0	sindel-varindel-pindel	AHNAK,frameshift_variant,p.Asp2726MetfsTer39,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	-	ENST00000378024	Transcript	frameshift_variant	8451/18787	8176/17673	2726/5890	D/X	Gat/at	rs749354718	1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2			5/5		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	70	62526241	62526241	C	-	1	0	1	0	1	0	0	0	0	491	855	30	0		0	AHNAK	11	62526241	Frame_Shift_Del	DEL	C	C3N-01030_TP	1578	62526241	72560381	488	22665											
SLC22A6	0	.	GRCh38	chr11	62981299	62981299	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttcccgcttcccattGatccgggcgactctctgcag	4	12	8	17	3	2	1	0	1	2	0	6	2	5	1	4	1	1	2	4	1	0	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.882C>A	p.=	p.I294I	ENST00000377871	5/10	269	227	42	226	226	0	strelka-varscan-mutect	SLC22A6,synonymous_variant,p.=,ENST00000377871,NM_004790.4;SLC22A6,synonymous_variant,p.=,ENST00000360421,NM_153276.2;SLC22A6,synonymous_variant,p.=,ENST00000421062,NM_153278.2;SLC22A6,synonymous_variant,p.=,ENST00000458333,NM_153277.2;SLC22A6,non_coding_transcript_exon_variant,,ENST00000537349,;SLC22A6,3_prime_UTR_variant,,ENST00000540654,;	T	ENST00000377871	Transcript	synonymous_variant	1149/2151	882/1692	294/563	I	atC/atA		1		-1	SLC22A6	HGNC	HGNC:10970	protein_coding	YES	CCDS31591.1	ENSP00000367102	Q4U2R8		UPI00000747EC	NM_004790.4			5/10		PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF231,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00898,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	62981299	62981299	G	T	1	0	0	0	0	0	0	0	1	14724	1280	45	2		2	SLC22A6	11	62981299	Silent	SNP	G	C3N-01030_TP	455058	62981299	72105323	489	22666											
MEN1	0	.	GRCh38	chr11	64807672	64807672	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtatgatcctttcaggtaCagccagctcttaggggggga	9	11	13	8	0	2	1	1	1	1	0	3	2	3	2	2	4	3	3	2	4	3	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.678G>T	p.=	p.L226L	ENST00000337652	4/10	318	250	68	269	267	2	strelka-varscan-mutect	MEN1,synonymous_variant,p.=,ENST00000337652,NM_130803.2;MEN1,synonymous_variant,p.=,ENST00000394374,NM_000244.3,NM_130801.2,NM_130800.2,NM_130802.2;MEN1,synonymous_variant,p.=,ENST00000377326,;MEN1,synonymous_variant,p.=,ENST00000315422,;MEN1,synonymous_variant,p.=,ENST00000394376,NM_130804.2;MEN1,synonymous_variant,p.=,ENST00000377316,;MEN1,synonymous_variant,p.=,ENST00000312049,NM_130799.2;MEN1,synonymous_variant,p.=,ENST00000377321,;MEN1,synonymous_variant,p.=,ENST00000377313,;MEN1,synonymous_variant,p.=,ENST00000440873,;MEN1,synonymous_variant,p.=,ENST00000450708,;MEN1,synonymous_variant,p.=,ENST00000413626,;MAP4K2,upstream_gene_variant,,ENST00000294066,NM_004579.3;MAP4K2,upstream_gene_variant,,ENST00000377350,NM_001307990.1;MAP4K2,upstream_gene_variant,,ENST00000439069,;MEN1,downstream_gene_variant,,ENST00000429702,;MEN1,downstream_gene_variant,,ENST00000424912,;MAP4K2,upstream_gene_variant,,ENST00000468062,;MAP4K2,upstream_gene_variant,,ENST00000482314,;MEN1,upstream_gene_variant,,ENST00000487019,;MAP4K2,upstream_gene_variant,,ENST00000435926,;MAP4K2,upstream_gene_variant,,ENST00000433890,;MEN1,upstream_gene_variant,,ENST00000478548,;MAP4K2,upstream_gene_variant,,ENST00000444560,;	A	ENST00000337652	Transcript	synonymous_variant	1182/3162	678/1848	226/615	L	ctG/ctT		1		-1	MEN1	HGNC	HGNC:7010	protein_coding	YES	CCDS8083.1	ENSP00000337088	O00255		UPI0000246DC0	NM_130803.2			4/10		Pfam_domain:PF05053,hmmpanther:PTHR12693,hmmpanther:PTHR12693:SF3																	LOW		SNV	5			1										PASS		rs1466764986	.												A	2	1	70	64807672	64807672	C	A	1	0	0	0	0	0	0	0	1	9417	465	17	2		2	MEN1	11	64807672	Silent	SNP	C	C3N-01030_TP	1826373	64807672	70278950	490	22667											
ZNHIT2	0	.	GRCh38	chr11	65117646	65117646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagccacagggcccggccGgctccatggcaactggcacc	9	3	13	16	2	0	1	0	0	0	1	1	1	1	1	5	5	2	3	5	5	2	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.8C>T	p.Pro3Leu	p.P3L	ENST00000310597	1/1	24	20	4	20	20	0	strelka-mutect	ZNHIT2,missense_variant,p.Pro3Leu,ENST00000310597,NM_014205.3;ZNHIT2,missense_variant,p.Pro3Leu,ENST00000528598,;MRPL49,upstream_gene_variant,,ENST00000279242,NM_004927.3;TM7SF2,downstream_gene_variant,,ENST00000279263,NM_003273.3;TM7SF2,downstream_gene_variant,,ENST00000345348,NM_001277233.1;FAU,downstream_gene_variant,,ENST00000529259,;TM7SF2,downstream_gene_variant,,ENST00000525385,;TM7SF2,downstream_gene_variant,,ENST00000531321,;TM7SF2,downstream_gene_variant,,ENST00000534371,;FAU,downstream_gene_variant,,ENST00000529639,NM_001997.4;TM7SF2,downstream_gene_variant,,ENST00000526809,;TM7SF2,downstream_gene_variant,,ENST00000529414,;TM7SF2,downstream_gene_variant,,ENST00000524986,;FAU,downstream_gene_variant,,ENST00000531743,;TM7SF2,downstream_gene_variant,,ENST00000528802,;MRPL49,upstream_gene_variant,,ENST00000533943,;TM7SF2,downstream_gene_variant,,ENST00000526085,;TM7SF2,downstream_gene_variant,,ENST00000527968,;FAU,downstream_gene_variant,,ENST00000527548,;FAU,downstream_gene_variant,,ENST00000434372,;MRPL49,upstream_gene_variant,,ENST00000534078,;FAU,downstream_gene_variant,,ENST00000526555,;MRPL49,upstream_gene_variant,,ENST00000526171,;MRPL49,upstream_gene_variant,,ENST00000531705,;FAU,downstream_gene_variant,,ENST00000279259,;TM7SF2,downstream_gene_variant,,ENST00000530750,;FAU,downstream_gene_variant,,ENST00000525297,;AP003068.12,downstream_gene_variant,,ENST00000527789,;MRPL49,upstream_gene_variant,,ENST00000524482,;RP11-399J13.2,upstream_gene_variant,,ENST00000623192,;MRPL49,upstream_gene_variant,,ENST00000528529,;TM7SF2,downstream_gene_variant,,ENST00000531029,;TM7SF2,downstream_gene_variant,,ENST00000533646,;TM7SF2,downstream_gene_variant,,ENST00000530650,;MRPL49,upstream_gene_variant,,ENST00000526319,;TM7SF2,downstream_gene_variant,,ENST00000529601,;TM7SF2,downstream_gene_variant,,ENST00000533766,;FAU,downstream_gene_variant,,ENST00000531357,;TM7SF2,downstream_gene_variant,,ENST00000529292,;TM7SF2,downstream_gene_variant,,ENST00000526048,;TM7SF2,downstream_gene_variant,,ENST00000527851,;TM7SF2,downstream_gene_variant,,ENST00000524690,;TM7SF2,downstream_gene_variant,,ENST00000529233,;TM7SF2,downstream_gene_variant,,ENST00000530892,;SYVN1,downstream_gene_variant,,ENST00000530451,;TM7SF2,downstream_gene_variant,,ENST00000528026,;TM7SF2,downstream_gene_variant,,ENST00000532328,;TM7SF2,downstream_gene_variant,,ENST00000534667,;	A	ENST00000310597	Transcript	missense_variant	63/1306	8/1212	3/403	P/L	cCg/cTg		1		-1	ZNHIT2	HGNC	HGNC:1177	protein_coding	YES	CCDS8094.1	ENSP00000308548	Q9UHR6		UPI0000049CD6	NM_014205.3	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR15555,hmmpanther:PTHR15555:SF0																	MODERATE		SNV				1										PASS		.	.												A	3	1	70	65117646	65117646	G	A	1	0	0	0	0	1	0	0	0	18800	1116	39	1		1	ZNHIT2	11	65117646	Missense_Mutation	SNP	G	C3N-01030_TP	309974	65117646	69968976	491	22668											
CATSPER1	0	.	GRCh38	chr11	66021533	66021533	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggattgccctcagggcccGcaggctcttgaagaccttga	7	8	12	14	2	2	3	1	2	1	1	2	4	2	4	4	3	1	2	4	3	1	3	rs756955557		C3N-01030_TP	C3N-01030_NB	G	G																c.1654C>A	p.=	p.R552R	ENST00000312106	4/12	246	185	61	233	233	0	strelka-varscan-mutect	CATSPER1,synonymous_variant,p.=,ENST00000312106,NM_053054.3;CATSPER1,upstream_gene_variant,,ENST00000529244,;	T	ENST00000312106	Transcript	synonymous_variant	1792/2619	1654/2343	552/780	R	Cgg/Agg	rs756955557	1		-1	CATSPER1	HGNC	HGNC:17116	protein_coding	YES	CCDS8127.1	ENSP00000309052	Q8NEC5		UPI000045651C	NM_053054.3			4/12		Low_complexity_(Seg):seg,hmmpanther:PTHR10037:SF216,hmmpanther:PTHR10037,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324																	LOW	1	SNV	1			1										PASS		rs756955557	.												T	2	4	70	66021533	66021533	G	T	1	0	0	0	0	0	0	0	1	2387	1086	38	1		1	CATSPER1	11	66021533	Silent	SNP	G	C3N-01030_TP	903887	66021533	69065089	492	22669											
TMEM151A	0	.	GRCh38	chr11	66294437	66294437	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtggcctggtgtcgccTggccacagtgccgcggctgg	2	8	18	13	4	0	0	0	0	0	0	1	0	0	0	4	6	1	1	4	6	0	0	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.191T>A	p.Leu64Gln	p.L64Q	ENST00000327259	2/2	164	130	34	154	154	0	strelka-varscan-mutect	TMEM151A,missense_variant,p.Leu64Gln,ENST00000327259,NM_153266.3;	A	ENST00000327259	Transcript	missense_variant	335/2562	191/1407	64/468	L/Q	cTg/cAg		1		1	TMEM151A	HGNC	HGNC:28497	protein_coding	YES	CCDS8133.1	ENSP00000326244	Q8N4L1		UPI0000070F9B	NM_153266.3	deleterious(0)		2/2		Pfam_domain:PF14857,hmmpanther:PTHR31893,hmmpanther:PTHR31893:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	66294437	66294437	T	A	1	0	0	0	0	1	0	0	0	16512	1580	55	4		4	TMEM151A	11	66294437	Missense_Mutation	SNP	T	C3N-01030_TP	272904	66294437	68792185	493	22670											
KDM2A	0	.	GRCh38	chr11	67215441	67215441	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatgcagtaccctaaagtGcagaagtaagtgatgcgccc	13	7	12	9	1	0	3	0	1	0	2	0	4	0	3	2	0	4	4	2	0	5	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.588G>T	p.=	p.V196V	ENST00000529006	7/21	89	69	20	96	96	0	strelka-varscan-mutect	KDM2A,synonymous_variant,p.=,ENST00000529006,NM_012308.2;KDM2A,synonymous_variant,p.=,ENST00000398645,;KDM2A,synonymous_variant,p.=,ENST00000308783,;KDM2A,non_coding_transcript_exon_variant,,ENST00000526258,;KDM2A,non_coding_transcript_exon_variant,,ENST00000528380,;KDM2A,upstream_gene_variant,,ENST00000531696,;KDM2A,upstream_gene_variant,,ENST00000525379,;	T	ENST00000529006	Transcript	synonymous_variant	1034/6967	588/3489	196/1162	V	gtG/gtT		1		1	KDM2A	HGNC	HGNC:13606	protein_coding	YES	CCDS44657.1	ENSP00000432786	Q9Y2K7	I3VM53	UPI00001678A9	NM_012308.2			7/21		Gene3D:1vrbA01,PROSITE_profiles:PS51184,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF3,SMART_domains:SM00558,Superfamily_domains:SSF51197																	LOW	1	SNV	1			1										PASS		rs1376342927	.												T	2	4	70	67215441	67215441	G	T	1	0	0	0	0	0	0	0	1	8042	1333	46	2		2	KDM2A	11	67215441	Silent	SNP	G	C3N-01030_TP	921004	67215441	67871181	494	22671											
SSH3	0	.	GRCh38	chr11	67311687	67311687	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaggtggacagggggcctCagcctgccctgaagtcccgc	7	5	15	14	1	1	1	1	1	0	0	2	2	2	2	4	4	3	1	4	4	1	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1780C>T	p.Gln594Ter	p.Q594*	ENST00000308127	14/14	373	324	49	280	279	1	strelka-varscan-mutect	SSH3,stop_gained,p.Gln448Ter,ENST00000376757,;SSH3,stop_gained,p.Gln594Ter,ENST00000308127,NM_017857.3;SSH3,stop_gained,p.Gln329Ter,ENST00000308298,;SSH3,downstream_gene_variant,,ENST00000532181,;SSH3,downstream_gene_variant,,ENST00000527821,;SSH3,intron_variant,,ENST00000525913,;SSH3,downstream_gene_variant,,ENST00000529224,;SSH3,downstream_gene_variant,,ENST00000531495,;SSH3,3_prime_UTR_variant,,ENST00000532881,;SSH3,downstream_gene_variant,,ENST00000532600,;	T	ENST00000308127	Transcript	stop_gained	1958/2871	1780/1980	594/659	Q/*	Cag/Tag		1		1	SSH3	HGNC	HGNC:30581	protein_coding	YES	CCDS8157.1	ENSP00000312081	Q8TE77	A0A024R5J4	UPI0000038D01	NM_017857.3			14/14																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	70	67311687	67311687	C	T	1	0	0	0	0	0	1	0	0	15562	827	29	3		3	SSH3	11	67311687	Nonsense_Mutation	SNP	C	C3N-01030_TP	96246	67311687	67774935	495	22672											
PITPNM1	0	.	GRCh38	chr11	67500221	67500221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccagtgttgctggccgCagaccgggcctcggtgctcg	3	8	17	13	4	0	1	0	0	0	1	2	1	0	1	4	4	3	4	4	4	0	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.841G>T	p.Ala281Ser	p.A281S	ENST00000356404	6/24	116	83	33	78	78	0	strelka-varscan-mutect	PITPNM1,missense_variant,p.Ala281Ser,ENST00000356404,NM_004910.2;PITPNM1,missense_variant,p.Ala281Ser,ENST00000436757,NM_001130848.1;PITPNM1,missense_variant,p.Ala281Ser,ENST00000534749,;PITPNM1,downstream_gene_variant,,ENST00000528559,;PITPNM1,downstream_gene_variant,,ENST00000533391,;PITPNM1,downstream_gene_variant,,ENST00000524901,;PITPNM1,downstream_gene_variant,,ENST00000532703,;PITPNM1,downstream_gene_variant,,ENST00000527527,;PITPNM1,downstream_gene_variant,,ENST00000527103,;PITPNM1,non_coding_transcript_exon_variant,,ENST00000530381,;PITPNM1,upstream_gene_variant,,ENST00000527370,;PITPNM1,downstream_gene_variant,,ENST00000529203,;PITPNM1,upstream_gene_variant,,ENST00000526602,;PITPNM1,upstream_gene_variant,,ENST00000525568,;PITPNM1,upstream_gene_variant,,ENST00000525521,;	A	ENST00000356404	Transcript	missense_variant	1067/4225	841/3735	281/1244	A/S	Gcg/Tcg		1		-1	PITPNM1	HGNC	HGNC:9003	protein_coding	YES	CCDS31620.1	ENSP00000348772	O00562	A0A024R5I7	UPI00001FAD31	NM_004910.2	tolerated(0.63)		6/24		hmmpanther:PTHR10658:SF40,hmmpanther:PTHR10658																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	67500221	67500221	C	A	1	0	0	0	0	1	0	0	0	12046	710	25	2		2	PITPNM1	11	67500221	Missense_Mutation	SNP	C	C3N-01030_TP	188534	67500221	67586401	496	22673											
ANO1	0	.	GRCh38	chr11	70104079	70104079	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacagatcccatccagccCaaagtggctgagcacaggcc	12	5	9	15	0	1	2	1	1	0	1	3	2	3	2	4	2	2	2	4	2	1	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.621C>T	p.=	p.P207P	ENST00000355303	4/26	183	146	37	156	155	1	strelka-varscan-mutect	ANO1,synonymous_variant,p.=,ENST00000355303,NM_018043.5;ANO1,synonymous_variant,p.=,ENST00000530676,;ANO1,synonymous_variant,p.=,ENST00000316296,;ANO1,synonymous_variant,p.=,ENST00000530480,;ANO1,synonymous_variant,p.=,ENST00000531604,;ANO1,upstream_gene_variant,,ENST00000531349,;ANO1,upstream_gene_variant,,ENST00000529913,;	T	ENST00000355303	Transcript	synonymous_variant	926/4790	621/2961	207/986	P	ccC/ccT		1		1	ANO1	HGNC	HGNC:21625	protein_coding	YES	CCDS44663.1	ENSP00000347454	Q5XXA6		UPI000013CE03	NM_018043.5			4/26		Pfam_domain:PF16178,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF13																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	70104079	70104079	C	T	1	0	0	0	0	0	0	0	1	802	581	21	3		3	ANO1	11	70104079	Silent	SNP	C	C3N-01030_TP	2603858	70104079	64982543	497	22674											
CTTN	0	.	GRCh38	chr11	70433155	70433155	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggccctgtgagtgggacgGagccggagcccgtgtacagc	7	5	18	11	3	0	1	0	1	0	0	0	5	0	4	3	4	4	1	3	4	1	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1210G>T	p.Glu404Ter	p.E404*	ENST00000376561	15/19	193	151	42	142	142	0	strelka-varscan-mutect	CTTN,stop_gained,p.Glu441Ter,ENST00000301843,NM_005231.3;CTTN,stop_gained,p.Glu404Ter,ENST00000346329,NM_138565.2;CTTN,stop_gained,p.Glu404Ter,ENST00000376561,NM_001184740.1;CTTN,stop_gained,p.Glu98Ter,ENST00000529736,;CTTN,non_coding_transcript_exon_variant,,ENST00000393747,;CTTN,stop_gained,p.Glu75Ter,ENST00000533931,;CTTN,downstream_gene_variant,,ENST00000527962,;CTTN,downstream_gene_variant,,ENST00000498223,;	T	ENST00000376561	Transcript	stop_gained	1381/2247	1210/1905	404/634	E/*	Gag/Tag		1		1	CTTN	HGNC	HGNC:3338	protein_coding	YES	CCDS53676.1	ENSP00000365745	Q14247		UPI000006E3C2	NM_001184740.1			15/19		hmmpanther:PTHR10829:SF15,hmmpanther:PTHR10829																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	70	70433155	70433155	G	T	1	0	0	0	0	0	1	0	0	3853	1175	41	2		2	CTTN	11	70433155	Nonsense_Mutation	SNP	G	C3N-01030_TP	329076	70433155	64653467	498	22675											
PAK1	0	.	GRCh38	chr11	77336283	77336283	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacagaatccaaagtcagCtagaaaagaaaaataagaga	22	5	8	6	0	1	4	1	0	0	4	2	5	2	4	1	0	2	2	1	0	8	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1217-1G>T		p.X406_splice	ENST00000278568		55	45	10	56	56	0	strelka-varscan-mutect	PAK1,splice_acceptor_variant,,ENST00000356341,NM_002576.4;PAK1,splice_acceptor_variant,,ENST00000530617,;PAK1,splice_acceptor_variant,,ENST00000278568,NM_001128620.1;PAK1,splice_acceptor_variant,,ENST00000528203,;PAK1,splice_acceptor_variant,,ENST00000533285,;PAK1,splice_acceptor_variant,,ENST00000525542,;PAK1,splice_acceptor_variant,,ENST00000527457,;PAK1,splice_acceptor_variant,,ENST00000532991,;PAK1,splice_acceptor_variant,,ENST00000527535,;PAK1,splice_acceptor_variant,,ENST00000532711,;	A	ENST00000278568	Transcript	splice_acceptor_variant	-/2543	1217/1662	406/553				1		-1	PAK1	HGNC	HGNC:8590	protein_coding	YES	CCDS44687.1	ENSP00000278568	Q13153		UPI000013DB7F	NM_001128620.1				12/15																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	70	77336283	77336283	C	A	1	0	0	0	0	0	0	1	0	11479	811	28	2		2	PAK1	11	77336283	Splice_Site	SNP	C	C3N-01030_TP	6903128	77336283	57750339	499	22676											
DDIAS	0	.	GRCh38	chr11	82928802	82928802	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgtccaaaatgtggctctActggtgaatctggaaatgcc	11	12	10	8	0	2	1	0	1	2	0	3	2	3	2	2	3	2	1	2	3	5	2	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.139A>G	p.Thr47Ala	p.T47A	ENST00000533655	4/6	143	112	31	204	204	0	strelka-varscan-mutect	DDIAS,missense_variant,p.Thr47Ala,ENST00000533655,NM_145018.3;DDIAS,missense_variant,p.Thr47Ala,ENST00000329143,;DDIAS,missense_variant,p.Thr47Ala,ENST00000525361,;DDIAS,missense_variant,p.Thr47Ala,ENST00000525388,;DDIAS,missense_variant,p.Thr47Ala,ENST00000532277,;DDIAS,missense_variant,p.Thr108Ala,ENST00000532764,;DDIAS,missense_variant,p.Thr47Ala,ENST00000524921,;DDIAS,missense_variant,p.Thr47Ala,ENST00000528262,;DDIAS,missense_variant,p.Thr47Ala,ENST00000532589,;DDIAS,intron_variant,,ENST00000528759,;PRCP,intron_variant,,ENST00000534396,;DDIAS,non_coding_transcript_exon_variant,,ENST00000533750,;DDIAS,non_coding_transcript_exon_variant,,ENST00000528189,;	G	ENST00000533655	Transcript	missense_variant	351/3533	139/2997	47/998	T/A	Act/Gct		1		1	DDIAS	HGNC	HGNC:26351	protein_coding	YES	CCDS8263.1	ENSP00000435421	Q8IXT1		UPI00001AF966	NM_145018.3	tolerated(0.08)		4/6		hmmpanther:PTHR35537,hmmpanther:PTHR35537:SF1,Pfam_domain:PF08646,Gene3D:2.40.50.140,Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	82928802	82928802	A	G	1	0	0	0	0	1	0	0	0	4133	391	14	5		5	DDIAS	11	82928802	Missense_Mutation	SNP	A	C3N-01030_TP	5592519	82928802	52157820	500	22677											
TRIM64B	0	.	GRCh38	chr11	89870698	89870698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccatagataagagaacCtttagaaacatcaaaaaaac	24	6	4	7	0	1	3	1	0	0	3	1	4	1	3	2	0	4	0	2	0	10	4	rs564890926		C3N-01030_TP	C3N-01030_NB	C	C																c.1273G>T	p.Gly425Cys	p.G425C	ENST00000329862	6/6	238	204	34	288	288	0	varscan-mutect	TRIM64B,missense_variant,p.Gly425Cys,ENST00000329862,NM_001164397.1;	A	ENST00000329862	Transcript	missense_variant	1273/2689	1273/1350	425/449	G/C	Ggt/Tgt	rs564890926,COSM5660772	1		-1	TRIM64B	HGNC	HGNC:37147	protein_coding	YES	CCDS53693.1	ENSP00000332969	A6NI03		UPI0001662600	NM_001164397.1	deleterious(0)		6/6		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF354,SMART_domains:SM00449,Superfamily_domains:SSF49899											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs564890926	.												A	3	1	70	89870698	89870698	C	A	1	0	0	0	0	1	0	0	0	17032	681	24	2		2	TRIM64B	11	89870698	Missense_Mutation	SNP	C	C3N-01030_TP	6941896	89870698	45215924	501	22678											
FAT3	0	.	GRCh38	chr11	92866924	92866924	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggcgcccctctacttcCagacgctgagcactgagagt	7	7	12	15	3	1	3	0	2	1	2	2	4	2	3	4	1	2	2	4	1	1	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.11392C>T	p.Gln3798Ter	p.Q3798*	ENST00000525166	21/27	190	139	51	121	121	0	strelka-varscan-mutect	FAT3,stop_gained,p.Gln3948Ter,ENST00000409404,NM_001008781.2;FAT3,stop_gained,p.Gln3798Ter,ENST00000525166,;FAT3,stop_gained,p.Gln283Ter,ENST00000533797,;	T	ENST00000525166	Transcript	stop_gained	11414/18699	11392/13320	3798/4439	Q/*	Cag/Tag		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895				21/27		PROSITE_profiles:PS50025,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	70	92866924	92866924	C	T	1	0	0	0	0	0	1	0	0	5551	595	21	3		3	FAT3	11	92866924	Nonsense_Mutation	SNP	C	C3N-01030_TP	2996226	92866924	42219698	502	22679											
CEP295	0	.	GRCh38	chr11	93696920	93696920	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatacagacctccaaattaGaacaagatcattttcaggta	16	11	5	9	0	2	3	2	0	0	3	3	3	3	3	2	1	2	1	2	1	7	6	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2008G>T	p.Glu670Ter	p.E670*	ENST00000325212	15/30	221	163	58	271	270	1	strelka-varscan-mutect	CEP295,stop_gained,p.Glu670Ter,ENST00000325212,NM_033395.1;CEP295,stop_gained,p.Glu231Ter,ENST00000531877,;CEP295,intron_variant,,ENST00000531700,;CEP295,upstream_gene_variant,,ENST00000530425,;CEP295,downstream_gene_variant,,ENST00000531622,;	T	ENST00000325212	Transcript	stop_gained	2170/8057	2008/7806	670/2601	E/*	Gaa/Taa		1		1	CEP295	HGNC	HGNC:29366	protein_coding	YES	CCDS44708.1	ENSP00000316681	Q9C0D2		UPI0000251F0E	NM_033395.1			15/30		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF25																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	70	93696920	93696920	G	T	1	0	0	0	0	0	1	0	0	2970	943	33	2		2	CEP295	11	93696920	Nonsense_Mutation	SNP	G	C3N-01030_TP	829996	93696920	41389702	503	22680											
HEPHL1	0	.	GRCh38	chr11	94075365	94075365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtctgtaaaaagggcgtcCtcaatgctgatgggacacag	12	9	12	8	1	2	1	1	1	1	0	3	2	3	2	1	2	1	2	1	2	5	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1696C>A	p.Leu566Ile	p.L566I	ENST00000315765	9/20	146	109	37	120	120	0	strelka-varscan-mutect	HEPHL1,missense_variant,p.Leu566Ile,ENST00000315765,NM_001098672.1;	A	ENST00000315765	Transcript	missense_variant	1704/5345	1696/3480	566/1159	L/I	Ctc/Atc		1		1	HEPHL1	HGNC	HGNC:30477	protein_coding	YES	CCDS44710.1	ENSP00000313699	Q6MZM0		UPI0000237563	NM_001098672.1	deleterious(0.01)		9/20		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF655,Gene3D:2.60.40.420,Superfamily_domains:SSF49503																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	94075365	94075365	C	A	1	0	0	0	0	1	0	0	0	6939	681	24	2		2	HEPHL1	11	94075365	Missense_Mutation	SNP	C	C3N-01030_TP	378445	94075365	41011257	504	22681											
PGR	0	.	GRCh38	chr11	101128828	101128828	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatatgcgccctccacgtcCgacagcgactgctggtcctg	7	8	11	15	4	0	0	0	0	0	0	3	3	3	0	4	1	3	1	4	1	2	1	rs770422665		C3N-01030_TP	C3N-01030_NB	C	C																c.243G>T	p.=	p.S81S	ENST00000325455	1/8	319	248	71	276	274	2	strelka-varscan-mutect	PGR,synonymous_variant,p.=,ENST00000325455,NM_000926.4,NM_001202474.3;PGR,synonymous_variant,p.=,ENST00000619228,;PGR,synonymous_variant,p.=,ENST00000617858,;PGR,synonymous_variant,p.=,ENST00000263463,NM_001271161.2;PGR,intron_variant,,ENST00000534013,NM_001271162.1;PGR,upstream_gene_variant,,ENST00000632634,;RP11-788M5.4,upstream_gene_variant,,ENST00000632820,;PGR,synonymous_variant,p.=,ENST00000534780,;PGR,synonymous_variant,p.=,ENST00000528960,;PGR,synonymous_variant,p.=,ENST00000526300,;	A	ENST00000325455	Transcript	synonymous_variant	1697/13748	243/2802	81/933	S	tcG/tcT	rs770422665,COSM4860390,COSM685858	1		-1	PGR	HGNC	HGNC:8910	protein_coding	YES	CCDS8310.1	ENSP00000325120	P06401		UPI0000046E22	NM_000926.4,NM_001202474.3			1/8		hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF7,Pfam_domain:PF02161											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs770422665	.												A	2	1	70	101128828	101128828	C	A	1	0	0	0	0	0	0	0	1	11894	639	23	1		1	PGR	11	101128828	Silent	SNP	C	C3N-01030_TP	7053463	101128828	33957794	505	22682											
MMP8	0	.	GRCh38	chr11	102724753	102724753	+	Splice_Site	SNP	C	C	A																															cctaactgatagttcatttaCctgaacagtttttgtatttt																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.102+1G>T		p.X34_splice	ENST00000236826		47	37	10	61	61	0	strelka-varscan-mutect	MMP8,splice_donor_variant,,ENST00000236826,NM_002424.2,NM_001304441.1,NM_001304442.1;MMP8,splice_donor_variant,,ENST00000438475,;MMP8,splice_donor_variant,,ENST00000528662,;MMP8,splice_donor_variant,,ENST00000533258,;MMP8,splice_donor_variant,,ENST00000532799,;MMP8,splice_donor_variant,,ENST00000531168,;	A	ENST00000236826	Transcript	splice_donor_variant	-/3056	102/1404	34/467				1		-1	MMP8	HGNC	HGNC:7175	protein_coding	YES	CCDS8320.1	ENSP00000236826	P22894		UPI00000422BB	NM_002424.2,NM_001304441.1,NM_001304442.1				1/9																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	70	102724753	102724753	C	A	1	0	0	0	0	0	0	1	0	9631	521	18	2		2	MMP8	11	102724753	Splice_Site	SNP	C	C3N-01030_TP	1595925	102724753	32361869	506	22683	477	2									
MMP8	0	.	GRCh38	chr11	102724754	102724754	+	Missense_Mutation	SNP	C	C	A																															ctaactgatagttcatttacCtgaacagtttttgtattttt																								rs758034380		C3N-01030_TP	C3N-01030_NB	C	C																c.102G>T	p.Gln34His	p.Q34H	ENST00000236826	1/10	47	37	10	60	60	0	strelka-varscan-mutect	MMP8,missense_variant,p.Gln34His,ENST00000236826,NM_002424.2,NM_001304441.1,NM_001304442.1;MMP8,missense_variant,p.Gln10His,ENST00000438475,;MMP8,missense_variant,p.Gln34His,ENST00000528662,;MMP8,missense_variant,p.Gln34His,ENST00000533258,;MMP8,missense_variant,p.Gln34His,ENST00000532799,;MMP8,missense_variant,p.Gln34His,ENST00000531168,;	A	ENST00000236826	Transcript	missense_variant,splice_region_variant	201/3056	102/1404	34/467	Q/H	caG/caT	rs758034380	1		-1	MMP8	HGNC	HGNC:7175	protein_coding	YES	CCDS8320.1	ENSP00000236826	P22894		UPI00000422BB	NM_002424.2,NM_001304441.1,NM_001304442.1	deleterious(0)		1/10		Gene3D:3.40.390.10,Pfam_domain:PF01471,PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF137,Superfamily_domains:SSF47090																	MODERATE	1	SNV	1			1										PASS		rs758034380	.												A	3	1	70	102724754	102724754	C	A	1	0	0	0	0	1	0	0	0	9631	695	24	2		2	MMP8	11	102724754	Missense_Mutation	SNP	C	C3N-01030_TP	1	102724754	32361868	507	22684	477	2									
GRIA4	0	.	GRCh38	chr11	105612389	105612389	+	Frame_Shift_Del	DEL	G	G	-																															cttttaatttggtacctcatGtggacaacattgagacagcc																										C3N-01030_TP	C3N-01030_NB	G	G																c.202delG	p.Val68TrpfsTer12	p.V68Wfs*12	ENST00000282499	3/17	180	141	39	190	190	0	sindel-varindel-pindel	GRIA4,frameshift_variant,p.Val68TrpfsTer12,ENST00000393127,NM_001077243.2;GRIA4,frameshift_variant,p.Val68TrpfsTer12,ENST00000282499,NM_000829.3;GRIA4,frameshift_variant,p.Val68TrpfsTer12,ENST00000530497,;GRIA4,frameshift_variant,p.Val68TrpfsTer12,ENST00000393125,NM_001077244.1;GRIA4,frameshift_variant,p.Val68TrpfsTer12,ENST00000525187,;GRIA4,frameshift_variant,p.Val68TrpfsTer12,ENST00000428631,NM_001112812.1;GRIA4,frameshift_variant,p.Val68TrpfsTer12,ENST00000527669,;GRIA4,frameshift_variant,p.Val68TrpfsTer12,ENST00000531011,;GRIA4,frameshift_variant,p.Val68TrpfsTer12,ENST00000531986,;GRIA4,frameshift_variant,p.Val68TrpfsTer12,ENST00000525921,;GRIA4,frameshift_variant,p.Val68TrpfsTer12,ENST00000527177,;GRIA4,non_coding_transcript_exon_variant,,ENST00000525032,;	-	ENST00000282499	Transcript	frameshift_variant	648/5508	202/2709	68/902	V/X	Gtg/tg	COSM330781,COSM330782	1		1	GRIA4	HGNC	HGNC:4574	protein_coding	YES	CCDS8333.1	ENSP00000282499	P48058		UPI000013DCE6	NM_000829.3			3/17		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF100,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822											1,1						HIGH	1	deletion	5		1,1	1										PASS		.	.												-	7	5	70	105612389	105612389	G	-	1	0	1	0	1	0	0	0	0	6650	1377	48	0		0	GRIA4	11	105612389	Frame_Shift_Del	DEL	G	C3N-01030_TP	2887635	105612389	29474233	508	22685											
CUL5	0	.	GRCh38	chr11	108097659	108097659	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagtagctttcccaaaactCaaacggcaagttttgttgta	12	14	7	8	1	1	0	1	0	0	0	2	0	2	0	1	1	3	6	1	1	7	7	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1929C>T	p.=	p.L643L	ENST00000393094	17/19	87	65	22	135	135	0	strelka-varscan-mutect	CUL5,synonymous_variant,p.=,ENST00000393094,NM_003478.3;CUL5,synonymous_variant,p.=,ENST00000531427,;	T	ENST00000393094	Transcript	synonymous_variant	2545/6351	1929/2343	643/780	L	ctC/ctT		1		1	CUL5	HGNC	HGNC:2556	protein_coding	YES	CCDS31668.1	ENSP00000376808	Q93034		UPI00001380B0	NM_003478.3			17/19		Gene3D:1.10.10.10,Pfam_domain:PF00888,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF76,Superfamily_domains:SSF75632																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	108097659	108097659	C	T	1	0	0	0	0	0	0	0	1	3869	813	29	3		3	CUL5	11	108097659	Silent	SNP	C	C3N-01030_TP	2485270	108097659	26988963	509	22686											
C11orf53	0	.	GRCh38	chr11	111285779	111285779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtccgggagcatcgccCagcacaggggctcaagctgg	8	6	15	12	2	1	1	1	1	0	0	3	2	2	2	2	4	3	4	2	4	1	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.436C>A	p.Gln146Lys	p.Q146K	ENST00000637637	4/4	101	78	23	112	112	0	strelka-varscan-mutect	C11orf53,missense_variant,p.Gln196Lys,ENST00000280325,;C11orf53,missense_variant,p.Gln146Lys,ENST00000637637,NM_198498.2;C11orf53,downstream_gene_variant,,ENST00000635886,;	A	ENST00000637637	Transcript	missense_variant	583/1049	436/711	146/236	Q/K	Cag/Aag		1		1	C11orf53	HGNC	HGNC:30527	protein_coding	YES	CCDS31674.1	ENSP00000489630			UPI0000074367	NM_198498.2	tolerated(0.61)		4/4		hmmpanther:PTHR28376																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	70	111285779	111285779	C	A	1	0	0	0	0	1	0	0	0	1786	595	21	2		2	C11orf53	11	111285779	Missense_Mutation	SNP	C	C3N-01030_TP	3188120	111285779	23800843	510	22687											
CEP164	0	.	GRCh38	chr11	117397286	117397286	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaggcatcaaggccctGgaagatatgcgcaagaacct	13	5	10	13	1	1	2	1	0	0	2	1	3	1	3	4	3	2	2	4	3	5	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.3474G>A	p.=	p.L1158L	ENST00000278935	27/33	115	85	30	107	107	0	strelka-varscan-mutect	CEP164,synonymous_variant,p.=,ENST00000278935,NM_001271933.1,NM_014956.4;CEP164,non_coding_transcript_exon_variant,,ENST00000533706,;CEP164,non_coding_transcript_exon_variant,,ENST00000533223,;CEP164,non_coding_transcript_exon_variant,,ENST00000533675,;	A	ENST00000278935	Transcript	synonymous_variant	3621/5630	3474/4383	1158/1460	L	ctG/ctA		1		1	CEP164	HGNC	HGNC:29182	protein_coding	YES	CCDS31683.1	ENSP00000278935	Q9UPV0		UPI00001FA422	NM_001271933.1,NM_014956.4			27/33		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF27																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	117397286	117397286	G	A	1	0	0	0	0	0	0	0	1	2963	1335	47	3		3	CEP164	11	117397286	Silent	SNP	G	C3N-01030_TP	6111507	117397286	17689336	511	22688											
CRTAM	0	.	GRCh38	chr11	122868029	122868030	+	Frame_Shift_Del	DEL	AC	AC	-																															gtagaaaacgaagtttcagaAcacacactagaaagttacag																								novel		C3N-01030_TP	C3N-01030_NB	AC	AC																c.987_988delAC	p.Leu330ArgfsTer9	p.L330Rfs*9	ENST00000227348	9/10	91	67	24	165	165	0	sindel-pindel	CRTAM,frameshift_variant,p.Leu330ArgfsTer9,ENST00000227348,NM_019604.3;CRTAM,frameshift_variant,p.Leu131ArgfsTer9,ENST00000533709,NM_001304782.1;CRTAM,non_coding_transcript_exon_variant,,ENST00000533416,;	-	ENST00000227348	Transcript	frameshift_variant	1028-1029/2469	981-982/1182	327-328/393	EH/EX	gaACac/gaac		1		1	CRTAM	HGNC	HGNC:24313	protein_coding	YES	CCDS8437.1	ENSP00000227348	O95727		UPI000013C8B4	NM_019604.3			9/10		hmmpanther:PTHR23277:SF48,hmmpanther:PTHR23277																	HIGH	1	deletion	1	6		1										PASS		.	.												-	7	5	70	122868029	122868029	AC	-	1	0	1	0	1	0	0	0	0	3699	40	2	0		0	CRTAM	11	122868029	Frame_Shift_Del	DEL	AC	C3N-01030_TP	5470743	122868029	12218593	512	22689											
GRAMD1B	0	.	GRCh38	chr11	123603462	123603462	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctggcactttgttcacCagtgctatgggaacgaattg	9	12	11	9	1	2	0	1	0	1	0	2	2	2	1	1	2	3	4	1	2	3	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.679C>A	p.Gln227Lys	p.Q227K	ENST00000456860	9/21	220	168	52	204	203	1	strelka-varscan-mutect	GRAMD1B,missense_variant,p.Gln220Lys,ENST00000529750,NM_020716.2;GRAMD1B,missense_variant,p.Gln180Lys,ENST00000529432,NM_001286564.1;GRAMD1B,missense_variant,p.Gln180Lys,ENST00000638157,;GRAMD1B,missense_variant,p.Gln363Lys,ENST00000635736,;GRAMD1B,missense_variant,p.Gln227Lys,ENST00000456860,NM_001286563.1;GRAMD1B,missense_variant,p.Gln249Lys,ENST00000638086,;GRAMD1B,missense_variant,p.Gln220Lys,ENST00000322282,;GRAMD1B,missense_variant,p.Gln216Lys,ENST00000534764,;GRAMD1B,upstream_gene_variant,,ENST00000450171,;GRAMD1B,downstream_gene_variant,,ENST00000633646,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;SF3A3P2,upstream_gene_variant,,ENST00000528675,;	A	ENST00000456860	Transcript	missense_variant	1192/2805	679/2238	227/745	Q/K	Cag/Aag		1		1	GRAMD1B	HGNC	HGNC:29214	protein_coding	YES	CCDS66253.1	ENSP00000402457	Q3KR37		UPI000023753E	NM_001286563.1	deleterious(0.03)		9/21		hmmpanther:PTHR23319:SF3,hmmpanther:PTHR23319																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	70	123603462	123603462	C	A	1	0	0	0	0	1	0	0	0	6627	595	21	2		2	GRAMD1B	11	123603462	Missense_Mutation	SNP	C	C3N-01030_TP	735433	123603462	11483160	513	22690											
GRAMD1B	0	.	GRCh38	chr11	123609894	123609894	+	Missense_Mutation	SNP	C	C	A																															ccctctggctcccaaaactgCcactgtcagggagacacagg																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1349C>A	p.Ala450Asp	p.A450D	ENST00000456860	13/21	138	117	21	136	136	0	strelka-varscan-mutect	GRAMD1B,missense_variant,p.Ala443Asp,ENST00000529750,NM_020716.2;GRAMD1B,missense_variant,p.Ala403Asp,ENST00000529432,NM_001286564.1;GRAMD1B,missense_variant,p.Ala403Asp,ENST00000638157,;GRAMD1B,missense_variant,p.Ala586Asp,ENST00000635736,;GRAMD1B,missense_variant,p.Ala450Asp,ENST00000456860,NM_001286563.1;GRAMD1B,missense_variant,p.Ala472Asp,ENST00000638086,;GRAMD1B,missense_variant,p.Ala443Asp,ENST00000322282,;GRAMD1B,missense_variant,p.Ala134Asp,ENST00000450171,;GRAMD1B,missense_variant,p.Ala439Asp,ENST00000534764,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;GRAMD1B,upstream_gene_variant,,ENST00000525945,;	A	ENST00000456860	Transcript	missense_variant	1862/2805	1349/2238	450/745	A/D	gCc/gAc		1		1	GRAMD1B	HGNC	HGNC:29214	protein_coding	YES	CCDS66253.1	ENSP00000402457	Q3KR37		UPI000023753E	NM_001286563.1	deleterious(0)		13/21		hmmpanther:PTHR23319:SF3,hmmpanther:PTHR23319,Pfam_domain:PF16016																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	70	123609894	123609894	C	A	1	0	0	0	0	1	0	0	0	6627	739	26	2		2	GRAMD1B	11	123609894	Missense_Mutation	SNP	C	C3N-01030_TP	6432	123609894	11476728	514	22691	478	2									
GRAMD1B	0	.	GRCh38	chr11	123609895	123609895	+	Silent	SNP	C	C	A																															cctctggctcccaaaactgcCactgtcagggagacacaggt																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1350C>A	p.=	p.A450A	ENST00000456860	13/21	138	117	21	137	137	0	strelka-varscan-mutect	GRAMD1B,synonymous_variant,p.=,ENST00000529750,NM_020716.2;GRAMD1B,synonymous_variant,p.=,ENST00000529432,NM_001286564.1;GRAMD1B,synonymous_variant,p.=,ENST00000638157,;GRAMD1B,synonymous_variant,p.=,ENST00000635736,;GRAMD1B,synonymous_variant,p.=,ENST00000456860,NM_001286563.1;GRAMD1B,synonymous_variant,p.=,ENST00000638086,;GRAMD1B,synonymous_variant,p.=,ENST00000322282,;GRAMD1B,synonymous_variant,p.=,ENST00000450171,;GRAMD1B,synonymous_variant,p.=,ENST00000534764,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;GRAMD1B,upstream_gene_variant,,ENST00000525945,;	A	ENST00000456860	Transcript	synonymous_variant	1863/2805	1350/2238	450/745	A	gcC/gcA		1		1	GRAMD1B	HGNC	HGNC:29214	protein_coding	YES	CCDS66253.1	ENSP00000402457	Q3KR37		UPI000023753E	NM_001286563.1			13/21		hmmpanther:PTHR23319:SF3,hmmpanther:PTHR23319,Pfam_domain:PF16016																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	70	123609895	123609895	C	A	1	0	0	0	0	0	0	0	1	6627	581	21	2		2	GRAMD1B	11	123609895	Silent	SNP	C	C3N-01030_TP	1	123609895	11476727	515	22692	478	2									
OR6X1	0	.	GRCh38	chr11	123754227	123754227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagtggaagaaggcctGcagcaggcagcaggacatgc	14	3	16	8	0	0	2	0	0	0	2	0	5	0	4	1	4	4	4	1	4	4	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.292C>A	p.Gln98Lys	p.Q98K	ENST00000327930	1/1	235	177	58	205	205	0	strelka-varscan-mutect	OR6X1,missense_variant,p.Gln98Lys,ENST00000327930,NM_001005188.1;	T	ENST00000327930	Transcript	missense_variant	319/1058	292/939	98/312	Q/K	Cag/Aag		1		-1	OR6X1	HGNC	HGNC:14737	protein_coding	YES	CCDS31695.1	ENSP00000333724	Q8NH79	A0A126GVM0	UPI000004B1D5	NM_001005188.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF30,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	70	123754227	123754227	G	T	1	0	0	0	0	1	0	0	0	11282	1328	46	2		2	OR6X1	11	123754227	Missense_Mutation	SNP	G	C3N-01030_TP	144332	123754227	11332395	516	22693											
OR8D4	0	.	GRCh38	chr11	123906845	123906845	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagggtcatcatgtccccTagggtctgttctctgctggt	5	14	11	11	0	4	0	2	0	2	0	6	0	5	0	2	3	2	2	2	3	2	3	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.414T>C	p.=	p.P138P	ENST00000321355	1/1	135	95	40	182	182	0	strelka-varscan-mutect	OR8D4,synonymous_variant,p.=,ENST00000321355,NM_001005197.1;	C	ENST00000321355	Transcript	synonymous_variant	700/1331	414/945	138/314	P	ccT/ccC		1		1	OR8D4	HGNC	HGNC:14840	protein_coding	YES	CCDS31698.1	ENSP00000325381	Q8NGM9		UPI0000040A83	NM_001005197.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF21,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	LOW	1	SNV				1										PASS		rs1448047921	.												C	2	2	70	123906845	123906845	T	C	1	0	0	0	0	0	0	0	1	11302	1509	53	5		5	OR8D4	11	123906845	Silent	SNP	T	C3N-01030_TP	152618	123906845	11179777	517	22694											
OR4D5	0	.	GRCh38	chr11	123940056	123940056	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtgcactccttatggcagCctcctgggtggggggcttca	4	11	14	12	0	1	0	1	0	0	0	3	0	3	0	3	5	2	3	3	5	1	2	rs201503357		C3N-01030_TP	C3N-01030_NB	C	C																c.440C>A	p.Ala147Asp	p.A147D	ENST00000307033	1/1	120	93	27	101	100	1	strelka-varscan-mutect	OR4D5,missense_variant,p.Ala147Asp,ENST00000307033,NM_001001965.1;OR6T1,downstream_gene_variant,,ENST00000321252,NM_001005187.1;	A	ENST00000307033	Transcript	missense_variant	514/1095	440/957	147/318	A/D	gCc/gAc	rs201503357	1		1	OR4D5	HGNC	HGNC:14852	protein_coding	YES	CCDS31699.1	ENSP00000305970	Q8NGN0	A0A126GVD9	UPI000003F227	NM_001001965.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF73,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs201503357	.												A	3	1	70	123940056	123940056	C	A	1	0	0	0	0	1	0	0	0	11134	739	26	2		2	OR4D5	11	123940056	Missense_Mutation	SNP	C	C3N-01030_TP	33211	123940056	11146566	518	22695											
HEPACAM	0	.	GRCh38	chr11	124923385	124923385	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agactgtcaccaaggtcacaAggaggaagatgcctcctgta	13	7	11	10	0	2	2	2	0	0	2	3	4	3	4	3	3	1	1	3	3	4	1	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.758T>A	p.Leu253His	p.L253H	ENST00000298251	4/7	397	312	85	396	396	0	strelka-varscan-mutect	HEPACAM,missense_variant,p.Leu253His,ENST00000298251,NM_152722.4;HEPN1,downstream_gene_variant,,ENST00000408930,NM_001037558.2;HEPACAM,downstream_gene_variant,,ENST00000528971,;HEPACAM,downstream_gene_variant,,ENST00000526273,;	T	ENST00000298251	Transcript	missense_variant	1164/3602	758/1251	253/416	L/H	cTt/cAt		1		-1	HEPACAM	HGNC	HGNC:26361	protein_coding	YES	CCDS8456.1	ENSP00000298251	Q14CZ8		UPI000013E4B5	NM_152722.4	deleterious(0)		4/7		hmmpanther:PTHR12080,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	124923385	124923385	A	T	1	0	0	0	0	1	0	0	0	6936	72	3	4		4	HEPACAM	11	124923385	Missense_Mutation	SNP	A	C3N-01030_TP	983329	124923385	10163237	519	22696											
PRDM10	0	.	GRCh38	chr11	129918660	129918660	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgatgcggtcggctttcTtggcctccctctcaggatta	4	13	12	12	2	2	1	1	1	2	0	5	2	3	2	2	5	1	2	2	5	1	3	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.2105A>T	p.Lys702Met	p.K702M	ENST00000358825	15/22	184	129	55	118	118	0	strelka-varscan-mutect	PRDM10,missense_variant,p.Lys702Met,ENST00000358825,NM_020228.2;PRDM10,missense_variant,p.Lys698Met,ENST00000360871,NM_199437.1;PRDM10,missense_variant,p.Lys672Met,ENST00000528746,;PRDM10,missense_variant,p.Lys616Met,ENST00000423662,NM_199438.1;PRDM10,missense_variant,p.Lys612Met,ENST00000304538,NM_199439.1;PRDM10,missense_variant,p.Lys616Met,ENST00000526082,;PRDM10,missense_variant,p.Lys415Met,ENST00000533431,;	A	ENST00000358825	Transcript	missense_variant	2337/6322	2105/3483	702/1160	K/M	aAg/aTg		1		-1	PRDM10	HGNC	HGNC:13995	protein_coding	YES	CCDS44771.1	ENSP00000351686	Q9NQV6		UPI00002371B3	NM_020228.2	deleterious(0.01)		15/22		hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF30																	MODERATE	1	SNV	1			1										PASS		rs1449976107	.												A	3	1	70	129918660	129918660	T	A	1	0	0	0	0	1	0	0	0	12582	1609	56	4		4	PRDM10	11	129918660	Missense_Mutation	SNP	T	C3N-01030_TP	4995275	129918660	5167962	520	22697											
APLP2	0	.	GRCh38	chr11	130121669	130121669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcatgctgctcccatgtgGggtagaccagttccatggca	7	9	13	12	1	0	1	0	0	0	1	2	1	2	1	3	4	2	6	3	4	1	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.572G>T	p.Gly191Val	p.G191V	ENST00000263574	5/18	143	98	45	158	158	0	strelka-varscan-mutect	APLP2,missense_variant,p.Gly191Val,ENST00000263574,NM_001642.2;APLP2,missense_variant,p.Gly201Val,ENST00000278756,NM_001243299.1;APLP2,missense_variant,p.Gly191Val,ENST00000338167,NM_001142276.1;APLP2,missense_variant,p.Gly191Val,ENST00000528499,NM_001142277.1;APLP2,intron_variant,,ENST00000345598,NM_001142278.1;APLP2,downstream_gene_variant,,ENST00000533713,;APLP2,non_coding_transcript_exon_variant,,ENST00000534001,;APLP2,non_coding_transcript_exon_variant,,ENST00000527702,;APLP2,non_coding_transcript_exon_variant,,ENST00000534761,;APLP2,intron_variant,,ENST00000526330,;APLP2,intron_variant,,ENST00000529701,;APLP2,downstream_gene_variant,,ENST00000529235,;APLP2,downstream_gene_variant,,ENST00000529483,;APLP2,3_prime_UTR_variant,,ENST00000533616,;APLP2,3_prime_UTR_variant,,ENST00000534582,;APLP2,downstream_gene_variant,,ENST00000533618,;	T	ENST00000263574	Transcript	missense_variant	644/3727	572/2292	191/763	G/V	gGg/gTg		1		1	APLP2	HGNC	HGNC:598	protein_coding	YES	CCDS8486.1	ENSP00000263574	Q06481		UPI0000125CAE	NM_001642.2	deleterious(0)		5/18		Superfamily_domains:0042059,Gene3D:2fmaA00,Pfam_domain:PF12924,hmmpanther:PTHR23103,hmmpanther:PTHR23103:SF14,SMART_domains:SM00006																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	130121669	130121669	G	T	1	0	0	0	0	1	0	0	0	901	1232	43	2		2	APLP2	11	130121669	Missense_Mutation	SNP	G	C3N-01030_TP	203009	130121669	4964953	521	22698											
OPCML	0	.	GRCh38	chr11	132943087	132943087	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaacaggtacccacagacCcccattctcgacagccacaa	14	4	7	16	1	1	1	0	0	1	1	2	3	1	2	4	2	3	1	4	2	3	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.6G>C	p.=	p.G2G	ENST00000331898	1/7	95	78	17	68	68	0	strelka-varscan-mutect	OPCML,synonymous_variant,p.=,ENST00000331898,NM_001319106.1,NM_001319105.1,NM_002545.3;OPCML,synonymous_variant,p.=,ENST00000541867,;OPCML,synonymous_variant,p.=,ENST00000612177,;OPCML,intron_variant,,ENST00000524381,NM_001012393.1;OPCML,intron_variant,,ENST00000374778,;OPCML,intron_variant,,ENST00000529038,;OPCML,upstream_gene_variant,,ENST00000525412,;	G	ENST00000331898	Transcript	synonymous_variant	585/6833	6/1038	2/345	G	ggG/ggC		1		-1	OPCML	HGNC	HGNC:8143	protein_coding	YES	CCDS8492.1	ENSP00000330862	Q14982	A8K0Y0	UPI0000055AE0	NM_001319106.1,NM_001319105.1,NM_002545.3			1/7		Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		rs1270111167	.												G	2	3	70	132943087	132943087	C	G	1	0	0	0	0	0	0	0	1	10951	637	22	4		4	OPCML	11	132943087	Silent	SNP	C	C3N-01030_TP	2821418	132943087	2143535	522	22699											
NCAPD3	0	.	GRCh38	chr11	134194113	134194113	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccacaggtcttccttcatgCctgagacatcacagtgtttc	8	13	7	13	0	3	1	2	1	1	1	6	2	5	1	3	1	1	1	3	1	0	3	rs73603039		C3N-01030_TP	C3N-01030_NB	C	C																c.1727G>T	p.Gly576Val	p.G576V	ENST00000534548	15/35	134	107	27	110	110	0	strelka-varscan-mutect	NCAPD3,missense_variant,p.Gly576Val,ENST00000534548,NM_015261.2;NCAPD3,missense_variant,p.Gly576Val,ENST00000534532,;NCAPD3,missense_variant,p.Gly576Val,ENST00000525964,;	A	ENST00000534548	Transcript	missense_variant	1792/5061	1727/4497	576/1498	G/V	gGc/gTc	rs73603039	1		-1	NCAPD3	HGNC	HGNC:28952	protein_coding	YES	CCDS31723.1	ENSP00000433681	P42695		UPI00001C1EFE	NM_015261.2	tolerated(0.52)		15/35		hmmpanther:PTHR14222:SF1,hmmpanther:PTHR14222,Gene3D:1.25.10.10,PIRSF_domain:PIRSF036508,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs73603039	.												A	3	1	70	134194113	134194113	C	A	1	0	0	0	0	1	0	0	0	10222	739	26	2		2	NCAPD3	11	134194113	Missense_Mutation	SNP	C	C3N-01030_TP	1251026	134194113	892509	523	22700											
VWF	0	.	GRCh38	chr12	5991899	5991899	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttccaacatgactttatCtggagggcagaaacagcctt	11	10	9	11	0	1	2	0	1	1	1	2	3	2	3	3	2	3	1	3	2	3	4	rs748791680		C3N-01030_TP	C3N-01030_NB	C	C																c.6718G>T	p.Asp2240Tyr	p.D2240Y	ENST00000261405	38/52	309	187	122	326	325	1	strelka-varscan-mutect	VWF,missense_variant,p.Asp2240Tyr,ENST00000261405,NM_000552.3;VWF,downstream_gene_variant,,ENST00000538635,;	A	ENST00000261405	Transcript	missense_variant	6973/8838	6718/8442	2240/2813	D/Y	Gat/Tat	rs748791680	1		-1	VWF	HGNC	HGNC:12726	protein_coding	YES	CCDS8539.1	ENSP00000261405	P04275		UPI00001AE7EE	NM_000552.3	deleterious(0.01)		38/52		hmmpanther:PTHR11339:SF259,hmmpanther:PTHR11339,Pfam_domain:PF01826,Gene3D:2.10.25.10,PIRSF_domain:PIRSF002495,Superfamily_domains:SSF57567																	MODERATE	1	SNV	1			1										PASS		rs748791680	.												A	3	1	70	5991899	5991899	C	A	1	0	0	0	0	1	0	0	0	17806	913	32	2		2	VWF	12	5991899	Missense_Mutation	SNP	C	C3N-01030_TP		5991899	127283410	524	22701											
USP5	0	.	GRCh38	chr12	6858610	6858610	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagcatccctgacttcCagaggaagtgagtagtgccc	9	10	10	12	0	2	3	1	2	1	1	4	4	4	4	3	1	2	2	3	1	2	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1051C>G	p.Gln351Glu	p.Q351E	ENST00000229268	8/20	50	43	7	35	35	0	strelka-varscan-mutect	USP5,missense_variant,p.Gln351Glu,ENST00000229268,NM_001098536.1;USP5,missense_variant,p.Gln351Glu,ENST00000389231,NM_003481.2;USP5,intron_variant,,ENST00000542087,;USP5,upstream_gene_variant,,ENST00000541969,;USP5,non_coding_transcript_exon_variant,,ENST00000537267,;USP5,non_coding_transcript_exon_variant,,ENST00000535080,;USP5,upstream_gene_variant,,ENST00000542371,;	G	ENST00000229268	Transcript	missense_variant	1103/3181	1051/2577	351/858	Q/E	Cag/Gag		1		1	USP5	HGNC	HGNC:12628	protein_coding	YES	CCDS41743.1	ENSP00000229268	P45974	A0A140VJZ1	UPI00001379E1	NM_001098536.1	tolerated(0.43)		8/20		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF449,hmmpanther:PTHR24006,PIRSF_domain:PIRSF016308,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	6858610	6858610	C	G	1	0	0	0	0	1	0	0	0	17624	595	21	4		4	USP5	12	6858610	Missense_Mutation	SNP	C	C3N-01030_TP	866711	6858610	126416699	525	22702											
TAS2R20	0	.	GRCh38	chr12	10997207	10997207	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtttgcagagcttttatgtgGatcttggtgctgggatcttg	5	17	14	5	0	2	1	0	0	2	1	2	3	2	3	0	3	3	4	0	3	1	5	rs766164891		C3N-01030_TP	C3N-01030_NB	G	G																c.669C>A	p.=	p.I223I	ENST00000538986	1/1	180	150	30	201	200	1	strelka-varscan-mutect	TAS2R20,synonymous_variant,p.=,ENST00000538986,NM_176889.2;PRR4,intron_variant,,ENST00000535024,;PRH1,intron_variant,,ENST00000539853,;TAS2R14,intron_variant,,ENST00000381852,;PRH1,intron_variant,,ENST00000536086,;PRR4,intron_variant,,ENST00000534923,;PRH1,intron_variant,,ENST00000541977,;PRH1-PRR4,intron_variant,,ENST00000536668,;	T	ENST00000538986	Transcript	synonymous_variant	669/1381	669/930	223/309	I	atC/atA	rs766164891	1		-1	TAS2R20	HGNC	HGNC:19109	protein_coding	YES	CCDS8639.1	ENSP00000441624	P59543		UPI000000D822	NM_176889.2			1/1		hmmpanther:PTHR11394:SF35,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW		SNV				1										PASS		rs766164891	.												T	2	4	70	10997207	10997207	G	T	1	0	0	0	0	0	0	0	1	15970	1164	41	2		2	TAS2R20	12	10997207	Silent	SNP	G	C3N-01030_TP	4138597	10997207	122278102	526	22703											
TAS2R43	0	.	GRCh38	chr12	11091412	11091412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggatgaatgggtggattGaaggatagctgaatctaata	14	11	13	3	0	2	3	1	3	1	0	2	6	2	6	0	4	1	1	0	4	6	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.818C>T	p.Ser273Leu	p.S273L	ENST00000531678	1/1	201	124	77	149	149	0	strelka-varscan-mutect	TAS2R43,missense_variant,p.Ser273Leu,ENST00000531678,NM_176884.2;PRR4,intron_variant,,ENST00000535024,;TAS2R14,intron_variant,,ENST00000381852,;PRR4,intron_variant,,ENST00000546265,;PRH1,intron_variant,,ENST00000541977,;PRH1-PRR4,intron_variant,,ENST00000536668,;	A	ENST00000531678	Transcript	missense_variant	902/1027	818/930	273/309	S/L	tCa/tTa		1		-1	TAS2R43	HGNC	HGNC:18875	protein_coding	YES	CCDS53749.1	ENSP00000431719	P59537		UPI000000D81F	NM_176884.2	tolerated(0.13)		1/1		hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF77,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												A	3	1	70	11091412	11091412	G	A	1	0	0	0	0	1	0	0	0	15980	1294	45	3		3	TAS2R43	12	11091412	Missense_Mutation	SNP	G	C3N-01030_TP	94205	11091412	122183897	527	22704											
LRP6	0	.	GRCh38	chr12	12162200	12162200	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagctgtttacccttcggCagggtccaacgcgagagctc	9	9	11	12	3	0	1	0	0	0	1	3	2	1	1	2	2	4	4	2	2	4	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2272G>T	p.Ala758Ser	p.A758S	ENST00000261349	10/23	174	89	85	174	174	0	varscan-mutect	LRP6,missense_variant,p.Ala758Ser,ENST00000261349,NM_002336.2;LRP6,missense_variant,p.Ala758Ser,ENST00000543091,;LRP6,missense_variant,p.Ala623Ser,ENST00000538239,;BCL2L14,intron_variant,,ENST00000298566,;	A	ENST00000261349	Transcript	missense_variant	2349/10020	2272/4842	758/1613	A/S	Gcc/Tcc		1		-1	LRP6	HGNC	HGNC:6698	protein_coding	YES	CCDS8647.1	ENSP00000261349	O75581		UPI00001FB66C	NM_002336.2	tolerated(0.46)		10/23		PROSITE_profiles:PS51120,hmmpanther:PTHR10529:SF109,hmmpanther:PTHR10529,PIRSF_domain:PIRSF036314,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	12162200	12162200	C	A	1	0	0	0	0	1	0	0	0	8857	710	25	2		2	LRP6	12	12162200	Missense_Mutation	SNP	C	C3N-01030_TP	1070788	12162200	121113109	528	22705											
ATF7IP	0	.	GRCh38	chr12	14424339	14424339	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctggtgatctggatgccGgagatccagcctccggagta	7	8	13	13	2	1	2	0	1	1	1	3	5	3	4	6	4	2	1	6	4	1	1	rs767883210		C3N-01030_TP	C3N-01030_NB	G	G																c.448G>T	p.Gly150Ter	p.G150*	ENST00000544627	2/15	202	96	106	195	195	0	strelka-varscan-mutect	ATF7IP,stop_gained,p.Gly142Ter,ENST00000261168,NM_018179.4;ATF7IP,stop_gained,p.Gly142Ter,ENST00000536444,NM_001286514.1;ATF7IP,stop_gained,p.Gly142Ter,ENST00000543189,NM_001286515.1;ATF7IP,stop_gained,p.Gly150Ter,ENST00000544627,NM_181352.1;ATF7IP,stop_gained,p.Gly142Ter,ENST00000540793,;ATF7IP,stop_gained,p.Gly142Ter,ENST00000396279,;ATF7IP,stop_gained,p.Gly142Ter,ENST00000539057,;ATF7IP,stop_gained,p.Gly142Ter,ENST00000541056,;ATF7IP,stop_gained,p.Gly142Ter,ENST00000545769,;ATF7IP,stop_gained,p.Gly142Ter,ENST00000542967,;ATF7IP,stop_gained,p.Gly142Ter,ENST00000534828,;ATF7IP,intron_variant,,ENST00000545723,;ATF7IP,intron_variant,,ENST00000538511,;ATF7IP,downstream_gene_variant,,ENST00000542508,;ATF7IP,downstream_gene_variant,,ENST00000542514,;ATF7IP,downstream_gene_variant,,ENST00000542991,;ATF7IP,downstream_gene_variant,,ENST00000535132,;ATF7IP,downstream_gene_variant,,ENST00000536279,;ATF7IP,downstream_gene_variant,,ENST00000428217,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000541654,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000539659,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000537653,;	T	ENST00000544627	Transcript	stop_gained	768/4847	448/3837	150/1278	G/*	Gga/Tga	rs767883210,COSM344127	1		1	ATF7IP	HGNC	HGNC:20092	protein_coding	YES	CCDS66326.1	ENSP00000440440	Q6VMQ6		UPI0001EE42CD	NM_181352.1			2/15		Low_complexity_(Seg):seg,hmmpanther:PTHR23210,hmmpanther:PTHR23210:SF22											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs767883210	.												T	4	4	70	14424339	14424339	G	T	1	0	0	0	0	0	1	0	0	1236	1117	39	1		1	ATF7IP	12	14424339	Nonsense_Mutation	SNP	G	C3N-01030_TP	2262139	14424339	118850970	529	22706											
SLCO1A2	0	.	GRCh38	chr12	21295597	21295597	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcattagaaaacaacatacCcttcataagaggtatttatt	16	14	4	7	0	2	2	2	0	0	2	2	2	2	2	1	1	3	1	1	1	8	9			C3N-01030_TP	C3N-01030_NB	C	C																c.1271G>T	p.Gly424Val	p.G424V	ENST00000307378	11/16	53	27	26	122	122	0	varscan-mutect	SLCO1A2,missense_variant,p.Gly424Val,ENST00000307378,NM_021094.3,NM_134431.3;SLCO1A2,missense_variant,p.Gly292Val,ENST00000458504,;SLCO1A2,splice_region_variant,,ENST00000463718,;SLCO1A2,splice_region_variant,,ENST00000544290,;SLCO1A2,splice_region_variant,,ENST00000544020,;SLCO1A2,non_coding_transcript_exon_variant,,ENST00000480394,;	A	ENST00000307378	Transcript	missense_variant,splice_region_variant	1992/7682	1271/2013	424/670	G/V	gGa/gTa	COSM3725427,COSM3725428	1		-1	SLCO1A2	HGNC	HGNC:10956	protein_coding	YES	CCDS8686.1	ENSP00000305974	P46721	A0A024RAT5	UPI0000037575	NM_021094.3,NM_134431.3	deleterious(0)		11/16		Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF16,TIGRFAM_domain:TIGR00805											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	70	21295597	21295597	C	A	1	0	0	0	0	1	0	0	0	15008	637	22	2		2	SLCO1A2	12	21295597	Missense_Mutation	SNP	C	C3N-01030_TP	6871258	21295597	111979712	530	22707											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3N-01030_TP	C3N-01030_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	250	126	124	282	282	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												A	3	1	70	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	C3N-01030_TP	3949754	25245351	108029958	531	22708											
ADAMTS20	0	.	GRCh38	chr12	43427434	43427434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatcctggcagaccacagcCctatgctgaagacctccaga	11	7	8	15	0	1	4	1	1	0	3	3	4	3	4	5	1	2	2	5	1	2	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.3981G>T	p.Arg1327Ser	p.R1327S	ENST00000389420	27/39	108	90	18	117	116	1	strelka-varscan-mutect	ADAMTS20,missense_variant,p.Arg1327Ser,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Arg1327Ser,ENST00000395541,;ADAMTS20,missense_variant,p.Arg1327Ser,ENST00000553158,;ADAMTS20,missense_variant,p.Arg457Ser,ENST00000549670,;	A	ENST00000389420	Transcript	missense_variant	3981/6076	3981/5733	1327/1910	R/S	agG/agT		1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3	deleterious(0)		27/39		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	43427434	43427434	C	A	1	0	0	0	0	1	0	0	0	310	622	22	2		2	ADAMTS20	12	43427434	Missense_Mutation	SNP	C	C3N-01030_TP	18182083	43427434	89847875	532	22709											
NELL2	0	.	GRCh38	chr12	44520142	44520142	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaagggtctgtgacacAgcgcgggcagcactcattct	8	8	13	12	2	3	1	1	1	2	0	3	1	3	1	0	3	2	3	0	3	1	1	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.2413T>A	p.Cys805Ser	p.C805S	ENST00000437801	20/21	96	64	32	141	141	0	strelka-varscan-mutect	NELL2,missense_variant,p.Cys755Ser,ENST00000429094,NM_001145108.1;NELL2,missense_variant,p.Cys805Ser,ENST00000437801,NM_001145107.1;NELL2,missense_variant,p.Cys754Ser,ENST00000395487,NM_001145109.1;NELL2,missense_variant,p.Cys755Ser,ENST00000452445,NM_006159.2;NELL2,missense_variant,p.Cys707Ser,ENST00000551601,;NELL2,missense_variant,p.Cys754Ser,ENST00000549027,;NELL2,missense_variant,p.Cys778Ser,ENST00000333837,NM_001145110.1;NELL2,downstream_gene_variant,,ENST00000550139,;NELL2,downstream_gene_variant,,ENST00000547636,;	T	ENST00000437801	Transcript	missense_variant	2785/3279	2413/2601	805/866	C/S	Tgt/Agt		1		-1	NELL2	HGNC	HGNC:7751	protein_coding	YES	CCDS44863.1	ENSP00000416341	Q99435		UPI000191537D	NM_001145107.1	deleterious(0)		20/21		PROSITE_profiles:PS50184,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF0,PROSITE_patterns:PS01208,Pfam_domain:PF00093,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	70	44520142	44520142	A	T	1	0	0	0	0	1	0	0	0	10365	188	7	4		4	NELL2	12	44520142	Missense_Mutation	SNP	A	C3N-01030_TP	1092708	44520142	88755167	533	22710											
DDN	0	.	GRCh38	chr12	48997874	48997874	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgctccctgtagctttggcTtggggatggctgtcgctacc	3	12	14	12	2	0	0	0	0	0	0	2	1	1	1	2	4	2	6	2	4	2	4	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.1002A>T	p.Gln334His	p.Q334H	ENST00000421952	2/2	162	126	36	169	169	0	strelka-varscan-mutect	DDN,missense_variant,p.Gln334His,ENST00000421952,NM_015086.1;PRKAG1,downstream_gene_variant,,ENST00000548065,NM_002733.4;PRKAG1,downstream_gene_variant,,ENST00000316299,NM_001206709.1;PRKAG1,downstream_gene_variant,,ENST00000547306,;PRKAG1,downstream_gene_variant,,ENST00000552212,NM_001206710.1;PRKAG1,downstream_gene_variant,,ENST00000551770,;PRKAG1,downstream_gene_variant,,ENST00000548362,;RP11-386G11.5,upstream_gene_variant,,ENST00000547866,;RP11-386G11.5,upstream_gene_variant,,ENST00000552933,;RP11-386G11.5,upstream_gene_variant,,ENST00000552284,;RP11-386G11.5,upstream_gene_variant,,ENST00000547395,;RP11-386G11.3,downstream_gene_variant,,ENST00000549516,;PRKAG1,downstream_gene_variant,,ENST00000546531,;	A	ENST00000421952	Transcript	missense_variant	1024/3749	1002/2136	334/711	Q/H	caA/caT		1		-1	DDN	HGNC	HGNC:24458	protein_coding	YES	CCDS31791.2	ENSP00000390590	O94850		UPI000019821C	NM_015086.1	tolerated_low_confidence(0.06)		2/2		Pfam_domain:PF15498,hmmpanther:PTHR16757																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	48997874	48997874	T	A	1	0	0	0	0	1	0	0	0	4137	1606	56	4		4	DDN	12	48997874	Missense_Mutation	SNP	T	C3N-01030_TP	4477732	48997874	84277435	534	22711											
C1QL4	0	.	GRCh38	chr12	49336244	49336244	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggttctcctgggggcccTcttggacctggtggtccagg	2	10	16	13	1	2	0	0	0	2	0	4	1	3	1	5	7	0	1	5	7	0	2	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.234A>T	p.Arg78Ser	p.R78S	ENST00000334221	1/2	35	28	7	36	36	0	strelka-varscan-mutect	C1QL4,missense_variant,p.Arg78Ser,ENST00000334221,NM_001008223.1;TROAP,downstream_gene_variant,,ENST00000551245,;TROAP,downstream_gene_variant,,ENST00000257909,NM_005480.3;TROAP,downstream_gene_variant,,ENST00000547923,;	A	ENST00000334221	Transcript	missense_variant	945/2071	234/717	78/238	R/S	agA/agT		1		-1	C1QL4	HGNC	HGNC:31416	protein_coding	YES	CCDS31793.1	ENSP00000335285	Q86Z23		UPI00000033B3	NM_001008223.1	tolerated(0.38)		1/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	49336244	49336244	T	A	1	0	0	0	0	1	0	0	0	1939	1548	54	4		4	C1QL4	12	49336244	Missense_Mutation	SNP	T	C3N-01030_TP	338370	49336244	83939065	535	22712											
SLC4A8	0	.	GRCh38	chr12	51505890	51505890	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctaaaactacagtttggAaagctctcagtatgaattct	13	13	7	8	0	2	1	1	1	2	0	3	2	2	2	1	1	4	3	1	1	6	5	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.3229A>G	p.Lys1077Glu	p.K1077E	ENST00000453097	24/25	96	89	7	111	111	0	strelka-varscan-mutect	SLC4A8,missense_variant,p.Lys1077Glu,ENST00000453097,NM_001039960.2;SLC4A8,missense_variant,p.Lys1024Glu,ENST00000358657,NM_001258401.2;SLC4A8,non_coding_transcript_exon_variant,,ENST00000546875,;	G	ENST00000453097	Transcript	missense_variant	3446/11824	3229/3282	1077/1093	K/E	Aaa/Gaa		1		1	SLC4A8	HGNC	HGNC:11034	protein_coding	YES	CCDS44890.1	ENSP00000405812	Q2Y0W8		UPI00005E6FB4	NM_001039960.2	deleterious(0)		24/25		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF37																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	51505890	51505890	A	G	1	0	0	0	0	1	0	0	0	14936	247	9	5		5	SLC4A8	12	51505890	Missense_Mutation	SNP	A	C3N-01030_TP	2169646	51505890	81769419	536	22713											
SCN8A	0	.	GRCh38	chr12	51790499	51790499	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaacctattccccgcccCttggtaagtgcattgtgcag	9	10	9	13	1	0	1	0	0	0	1	1	1	1	1	5	1	3	3	5	1	3	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.4521C>A	p.=	p.P1507P	ENST00000354534	25/27	224	128	96	169	168	1	strelka-varscan-mutect	SCN8A,synonymous_variant,p.=,ENST00000354534,NM_014191.3;SCN8A,synonymous_variant,p.=,ENST00000545061,NM_001177984.2;SCN8A,synonymous_variant,p.=,ENST00000599343,;SCN8A,synonymous_variant,p.=,ENST00000627620,;SCN8A,synonymous_variant,p.=,ENST00000355133,;SCN8A,downstream_gene_variant,,ENST00000548086,;SCN8A,downstream_gene_variant,,ENST00000637540,;SCN8A,3_prime_UTR_variant,,ENST00000637709,;SCN8A,3_prime_UTR_variant,,ENST00000636945,;	A	ENST00000354534	Transcript	synonymous_variant	4699/11556	4521/5943	1507/1980	P	ccC/ccA		1		1	SCN8A	HGNC	HGNC:10596	protein_coding	YES	CCDS44891.1	ENSP00000346534	Q9UQD0		UPI000006FD85	NM_014191.3			25/27		hmmpanther:PTHR10037:SF23,hmmpanther:PTHR10037																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	51790499	51790499	C	A	1	0	0	0	0	0	0	0	1	14193	695	24	2		2	SCN8A	12	51790499	Silent	SNP	C	C3N-01030_TP	284609	51790499	81484810	537	22714											
KRT85	0	.	GRCh38	chr12	52362920	52362920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttcagctcgttgatctcCtccttggtgcggcgcagggt	3	12	14	12	4	2	1	1	1	1	0	5	1	3	1	2	4	2	4	2	4	0	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1011G>A	p.=	p.E337E	ENST00000257901	6/9	1024	472	552	497	497	0	strelka-varscan-mutect	KRT85,synonymous_variant,p.=,ENST00000257901,NM_002283.3;KRT85,synonymous_variant,p.=,ENST00000544265,NM_001300810.1;KRT85,non_coding_transcript_exon_variant,,ENST00000552537,;	T	ENST00000257901	Transcript	synonymous_variant	1087/2447	1011/1524	337/507	E	gaG/gaA		1		-1	KRT85	HGNC	HGNC:6462	protein_coding	YES	CCDS8824.1	ENSP00000257901	P78386		UPI000006EB3B	NM_002283.3			6/9		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,Prints_domain:PR01276,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF113,SMART_domains:SM01391																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	52362920	52362920	C	T	1	0	0	0	0	0	0	0	1	8381	680	24	3		3	KRT85	12	52362920	Silent	SNP	C	C3N-01030_TP	572421	52362920	80912389	538	22715											
KRT2	0	.	GRCh38	chr12	52651917	52651917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccacctcctccagccaCactaatggagatgctcttgg	9	8	8	16	0	1	1	0	0	1	1	3	2	3	1	6	2	2	1	6	2	1	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.226G>T	p.Val76Leu	p.V76L	ENST00000309680	1/9	287	240	47	121	121	0	strelka-varscan-mutect	KRT2,missense_variant,p.Val76Leu,ENST00000309680,NM_000423.2;KRT2,upstream_gene_variant,,ENST00000547106,;	A	ENST00000309680	Transcript	missense_variant	248/2403	226/1920	76/639	V/L	Gtg/Ttg		1		-1	KRT2	HGNC	HGNC:6439	protein_coding	YES	CCDS8835.1	ENSP00000310861	P35908		UPI0000367804	NM_000423.2	tolerated(0.15)		1/9		hmmpanther:PTHR23239:SF134,hmmpanther:PTHR23239,Pfam_domain:PF16208																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	52651917	52651917	C	A	1	0	0	0	0	1	0	0	0	8339	478	17	2		2	KRT2	12	52651917	Missense_Mutation	SNP	C	C3N-01030_TP	288997	52651917	80623392	539	22716											
KRT77	0	.	GRCh38	chr12	52696378	52696378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttccctcaccttcttcaGgacgacaaagtcattctcgc	8	12	5	16	2	5	0	3	0	2	0	7	2	6	1	3	1	0	0	3	1	1	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.811C>A	p.Leu271Met	p.L271M	ENST00000341809	3/9	122	92	30	151	151	0	strelka-varscan-mutect	KRT77,missense_variant,p.Leu271Met,ENST00000341809,NM_175078.2;RP11-641A6.3,splice_acceptor_variant,,ENST00000547533,;KRT77,3_prime_UTR_variant,,ENST00000553168,;KRT77,upstream_gene_variant,,ENST00000550823,;	T	ENST00000341809	Transcript	missense_variant	840/3305	811/1737	271/578	L/M	Ctg/Atg		1		-1	KRT77	HGNC	HGNC:20411	protein_coding	YES	CCDS8837.1	ENSP00000342710	Q7Z794		UPI00001D797A	NM_175078.2	deleterious(0.01)		3/9		hmmpanther:PTHR23239:SF87,hmmpanther:PTHR23239,Pfam_domain:PF00038,SMART_domains:SM01391,Prints_domain:PR01276																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	52696378	52696378	G	T	1	0	0	0	0	1	0	0	0	8372	991	35	2		2	KRT77	12	52696378	Missense_Mutation	SNP	G	C3N-01030_TP	44461	52696378	80578931	540	22717											
HOXC12	0	.	GRCh38	chr12	53955233	53955233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accgcgagccgtgcgccgagGgtggcggcgggggcctgaag	5	3	21	12	7	0	1	0	1	0	0	0	3	0	1	4	5	2	0	4	5	1	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.304G>T	p.Gly102Cys	p.G102C	ENST00000243103	1/2	78	60	18	90	90	0	strelka-varscan-mutect	HOXC12,missense_variant,p.Gly102Cys,ENST00000243103,NM_173860.1;	T	ENST00000243103	Transcript	missense_variant	400/3335	304/849	102/282	G/C	Ggt/Tgt		1		1	HOXC12	HGNC	HGNC:5124	protein_coding	YES	CCDS8866.1	ENSP00000243103	P31275		UPI000012CF7E	NM_173860.1	deleterious(0.01)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF164,hmmpanther:PTHR24326																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	70	53955233	53955233	G	T	1	0	0	0	0	1	0	0	0	7205	1232	43	2		2	HOXC12	12	53955233	Missense_Mutation	SNP	G	C3N-01030_TP	1258855	53955233	79320076	541	22718											
PDE1B	0	.	GRCh38	chr12	54549979	54549979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgtggattaagcttcGgtctctgtaagtccccggcc	8	11	12	10	2	1	1	0	0	1	1	4	3	2	2	3	3	1	2	3	3	3	3	rs761218249		C3N-01030_TP	C3N-01030_NB	G	G																c.107G>T	p.Arg36Leu	p.R36L	ENST00000243052	2/16	89	66	23	71	71	0	strelka-varscan-mutect	PDE1B,missense_variant,p.Arg36Leu,ENST00000243052,NM_000924.3;NCKAP1L,downstream_gene_variant,,ENST00000293373,NM_005337.4;PDE1B,upstream_gene_variant,,ENST00000538346,NM_001288768.1,NM_001288769.1;PDE1B,missense_variant,p.Arg36Leu,ENST00000550285,;PDE1B,missense_variant,p.Arg36Leu,ENST00000611899,;PDE1B,non_coding_transcript_exon_variant,,ENST00000548855,;	T	ENST00000243052	Transcript	missense_variant	543/3444	107/1611	36/536	R/L	cGg/cTg	rs761218249,COSM5461158	1		1	PDE1B	HGNC	HGNC:8775	protein_coding	YES	CCDS8882.1	ENSP00000243052	Q01064	A0A024RB59	UPI0000001607	NM_000924.3	tolerated(0.13)		2/16		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF128											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs761218249	.												T	3	4	70	54549979	54549979	G	T	1	0	0	0	0	1	0	0	0	11722	1116	39	1		1	PDE1B	12	54549979	Missense_Mutation	SNP	G	C3N-01030_TP	594746	54549979	78725330	542	22719											
OR6C3	0	.	GRCh38	chr12	55332129	55332129	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcactctacttgtgctGtgtgcctggctaagtgggtt	4	15	12	10	0	2	0	0	0	2	0	2	0	2	0	1	2	4	4	1	2	2	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.429G>T	p.=	p.L143L	ENST00000379667	1/1	129	94	35	167	167	0	strelka-mutect	OR6C3,synonymous_variant,p.=,ENST00000379667,NM_054104.1;	T	ENST00000379667	Transcript	synonymous_variant	429/936	429/936	143/311	L	ctG/ctT		1		1	OR6C3	HGNC	HGNC:15437	protein_coding	YES	CCDS31819.1	ENSP00000368989	Q9NZP0	A0A126GW44	UPI000016150E	NM_054104.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454:SF39,hmmpanther:PTHR26454,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												T	2	4	70	55332129	55332129	G	T	1	0	0	0	0	0	0	0	1	11260	1364	48	2		2	OR6C3	12	55332129	Silent	SNP	G	C3N-01030_TP	782150	55332129	77943180	543	22720											
LGR5	0	.	GRCh38	chr12	71524425	71524425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtcttgcgggaaacgctCtgacatacattcccaaggga	11	8	11	11	3	2	1	0	1	2	0	3	4	3	3	1	2	3	1	1	2	3	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.304C>A	p.Leu102Met	p.L102M	ENST00000266674	3/18	135	102	33	196	196	0	strelka-varscan-mutect	LGR5,missense_variant,p.Leu102Met,ENST00000266674,NM_003667.3;LGR5,missense_variant,p.Leu102Met,ENST00000540815,NM_001277226.1;LGR5,missense_variant,p.Leu102Met,ENST00000536515,NM_001277227.1;LGR5,non_coding_transcript_exon_variant,,ENST00000550851,;	A	ENST00000266674	Transcript	missense_variant	615/4611	304/2724	102/907	L/M	Ctg/Atg		1		1	LGR5	HGNC	HGNC:4504	protein_coding	YES	CCDS9000.1	ENSP00000266674	O75473	A0A0A8K8C7	UPI000004B65C	NM_003667.3	deleterious(0)		3/18		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF259,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	71524425	71524425	C	A	1	0	0	0	0	1	0	0	0	8667	912	32	2		2	LGR5	12	71524425	Missense_Mutation	SNP	C	C3N-01030_TP	16192296	71524425	61750884	544	22721											
TRHDE	0	.	GRCh38	chr12	72652347	72652347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactaaatgttagagacatcGtatactgtacaggagtgtca	14	11	9	7	1	1	1	1	0	0	1	2	3	1	2	0	1	2	3	0	1	6	5	rs746911625		C3N-01030_TP	C3N-01030_NB	G	G																c.2566G>T	p.Val856Leu	p.V856L	ENST00000261180	16/19	67	60	7	110	110	0	strelka-varscan-mutect	TRHDE,missense_variant,p.Val856Leu,ENST00000261180,NM_013381.2;	T	ENST00000261180	Transcript	missense_variant	2662/10733	2566/3075	856/1024	V/L	Gta/Tta	rs746911625,COSM943364	1		1	TRHDE	HGNC	HGNC:30748	protein_coding	YES	CCDS9004.1	ENSP00000261180	Q9UKU6		UPI0000136D52	NM_013381.2	deleterious(0)		16/19		Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs746911625	.												T	3	4	70	72652347	72652347	G	T	1	0	0	0	0	1	0	0	0	16968	1145	40	1		1	TRHDE	12	72652347	Missense_Mutation	SNP	G	C3N-01030_TP	1127922	72652347	60622962	545	22722											
GLIPR1L2	0	.	GRCh38	chr12	75430714	75430714	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactttctttttctttctaGgtaatgcagatcgtgaccaa	9	16	8	8	1	3	2	0	1	3	1	4	3	3	3	1	2	1	2	1	2	3	6	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.671-1G>T		p.X224_splice	ENST00000550916		127	94	33	176	175	1	strelka-varscan-mutect	GLIPR1L2,splice_acceptor_variant,,ENST00000550916,NM_001270396.1;GLIPR1L2,splice_acceptor_variant,,ENST00000378692,;	T	ENST00000550916	Transcript	splice_acceptor_variant	-/2609	671/1035	224/344				1		1	GLIPR1L2	HGNC	HGNC:28592	protein_coding	YES	CCDS58258.1	ENSP00000448248	Q4G1C9		UPI00001408B2	NM_001270396.1				4/5																		HIGH	1	SNV	1			1										PASS		rs1255012358	.												T	5	4	70	75430714	75430714	G	T	1	0	0	0	0	0	0	1	0	6321	1014	35	2		2	GLIPR1L2	12	75430714	Splice_Site	SNP	G	C3N-01030_TP	2778367	75430714	57844595	546	22723											
ZDHHC17	0	.	GRCh38	chr12	76828470	76828470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctggatgtatgtgacgtGgttcttctggttttggaatg	6	18	13	4	1	3	1	0	1	3	0	3	3	3	3	0	4	0	3	0	4	2	6	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1121G>T	p.Trp374Leu	p.W374L	ENST00000426126	10/17	135	115	20	201	201	0	strelka-varscan-mutect	ZDHHC17,missense_variant,p.Trp374Leu,ENST00000426126,NM_015336.2;ZDHHC17,downstream_gene_variant,,ENST00000550876,;ZDHHC17,downstream_gene_variant,,ENST00000546778,;ZDHHC17,downstream_gene_variant,,ENST00000552453,;	T	ENST00000426126	Transcript	missense_variant	1770/5259	1121/1899	374/632	W/L	tGg/tTg		1		1	ZDHHC17	HGNC	HGNC:18412	protein_coding	YES	CCDS44946.1	ENSP00000403397	Q8IUH5		UPI0000051F55	NM_015336.2	deleterious(0)		10/17		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24161:SF18,hmmpanther:PTHR24161																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	76828470	76828470	G	T	1	0	0	0	0	1	0	0	0	18183	1357	47	2		2	ZDHHC17	12	76828470	Missense_Mutation	SNP	G	C3N-01030_TP	1397756	76828470	56446839	547	22724											
NAV3	0	.	GRCh38	chr12	78137235	78137235	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagcatgatgcgctcaaaCagcatcccagcccaagactc	12	5	7	17	1	1	2	1	1	0	1	3	2	2	2	3	0	5	3	3	0	2	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.4500C>G	p.Asn1500Lys	p.N1500K	ENST00000397909	19/40	105	89	16	116	116	0	strelka-mutect	NAV3,missense_variant,p.Asn1500Lys,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Asn1500Lys,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Asn395Lys,ENST00000552895,;NAV3,missense_variant,p.Asn129Lys,ENST00000550788,;	G	ENST00000397909	Transcript	missense_variant	4673/9821	4500/7158	1500/2385	N/K	aaC/aaG		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	deleterious(0)		19/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	78137235	78137235	C	G	1	0	0	0	0	1	0	0	0	10194	477	17	4		4	NAV3	12	78137235	Missense_Mutation	SNP	C	C3N-01030_TP	1308765	78137235	55138074	548	22725											
OTOGL	0	.	GRCh38	chr12	80358692	80358692	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaaccaaacctttgtcCtatgccattactcaactgtg	11	13	6	11	0	1	1	1	1	0	0	2	1	2	1	4	0	5	0	4	0	5	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.6116C>G	p.Pro2039Arg	p.P2039R	ENST00000458043	50/58	113	98	15	193	193	0	strelka-varscan-mutect	OTOGL,missense_variant,p.Pro2039Arg,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Pro2027Arg,ENST00000547103,;OTOGL,missense_variant,p.Pro482Arg,ENST00000298820,;OTOGL,missense_variant,p.Pro56Arg,ENST00000550182,;OTOGL,missense_variant,p.Pro91Arg,ENST00000551340,;OTOGL,non_coding_transcript_exon_variant,,ENST00000546620,;	G	ENST00000458043	Transcript	missense_variant	6122/8083	6116/7035	2039/2344	P/R	cCt/cGt		1		1	OTOGL	HGNC	HGNC:26901	protein_coding	YES		ENSP00000400895		A0A0A0MSS2	UPI0001D089C5	NM_173591.3	deleterious(0.02)		50/58		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF225																	MODERATE	1	SNV	5			1										PASS		rs1253264001	.												G	3	3	70	80358692	80358692	C	G	1	0	0	0	0	1	0	0	0	11371	681	24	4		4	OTOGL	12	80358692	Missense_Mutation	SNP	C	C3N-01030_TP	2221457	80358692	52916617	549	22726											
LIN7A	0	.	GRCh38	chr12	80889361	80889361	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccagtaattcaattgctcTtgcaacatctgaatgaaaaa	15	13	5	8	0	3	2	1	2	2	0	4	2	4	2	1	0	3	3	1	0	6	5	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.91A>T	p.Arg31Ter	p.R31*	ENST00000552864	2/6	104	88	16	175	175	0	strelka-varscan-mutect	LIN7A,stop_gained,p.Arg31Ter,ENST00000552864,NM_001324423.1,NM_004664.2;LIN7A,stop_gained,p.Arg25Ter,ENST00000549417,;LIN7A,upstream_gene_variant,,ENST00000552093,;LIN7A,stop_gained,p.Arg31Ter,ENST00000261203,;	A	ENST00000552864	Transcript	stop_gained	294/6112	91/702	31/233	R/*	Aga/Tga		1		-1	LIN7A	HGNC	HGNC:17787	protein_coding	YES	CCDS9021.1	ENSP00000447488	O14910		UPI0000073ECD	NM_001324423.1,NM_004664.2			2/6		Pfam_domain:PF02828,PROSITE_profiles:PS51022,hmmpanther:PTHR14063,hmmpanther:PTHR14063:SF4,SMART_domains:SM00569,Superfamily_domains:SSF101288																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	80889361	80889361	T	A	1	0	0	0	0	0	1	0	0	8718	1617	56	4		4	LIN7A	12	80889361	Nonsense_Mutation	SNP	T	C3N-01030_TP	530669	80889361	52385948	550	22727											
MGAT4C	0	.	GRCh38	chr12	85979605	85979605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacaaaaacatctcctgttGaaggtggtttcccccaaaag	13	10	7	11	0	2	1	1	1	1	0	4	1	3	1	3	2	1	2	3	2	5	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1121C>T	p.Ser374Leu	p.S374L	ENST00000611864	4/4	162	142	20	227	227	0	strelka-varscan-mutect	MGAT4C,missense_variant,p.Ser374Leu,ENST00000611864,;MGAT4C,missense_variant,p.Ser374Leu,ENST00000620241,;MGAT4C,missense_variant,p.Ser374Leu,ENST00000621808,NM_013244.3;MGAT4C,missense_variant,p.Ser374Leu,ENST00000548651,;MGAT4C,missense_variant,p.Ser374Leu,ENST00000552808,;MGAT4C,missense_variant,p.Ser374Leu,ENST00000547225,;MGAT4C,downstream_gene_variant,,ENST00000552435,;	A	ENST00000611864	Transcript	missense_variant	1177/25116	1121/1437	374/478	S/L	tCa/tTa		1		-1	MGAT4C	HGNC	HGNC:30871	protein_coding	YES	CCDS9030.1	ENSP00000481096	Q9UBM8		UPI00001B002C		tolerated(0.23)		4/4		hmmpanther:PTHR12062,hmmpanther:PTHR12062:SF14																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	85979605	85979605	G	A	1	0	0	0	0	1	0	0	0	9507	1294	45	3		3	MGAT4C	12	85979605	Missense_Mutation	SNP	G	C3N-01030_TP	5090244	85979605	47295704	551	22728											
EPYC	0	.	GRCh38	chr12	90972981	90972981	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaagacaggttggaaagtCtaaaagataaaggaaaataa	23	6	9	3	0	1	2	0	0	1	2	1	4	1	4	0	3	0	1	0	3	10	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.341-1G>C		p.X114_splice	ENST00000261172		85	70	15	88	88	0	strelka-varscan-mutect	EPYC,splice_acceptor_variant,,ENST00000261172,NM_004950.4;EPYC,splice_acceptor_variant,,ENST00000551767,;EPYC,splice_acceptor_variant,,ENST00000550203,;	G	ENST00000261172	Transcript	splice_acceptor_variant	-/1539	341/969	114/322				1		-1	EPYC	HGNC	HGNC:3053	protein_coding	YES	CCDS31870.1	ENSP00000261172	Q99645	A0A024RBC3	UPI000013D136	NM_004950.4				3/6																		HIGH	1	SNV	1			1										PASS		rs1291861382	.												G	5	3	70	90972981	90972981	C	G	1	0	0	0	0	0	0	1	0	5049	927	32	4		4	EPYC	12	90972981	Splice_Site	SNP	C	C3N-01030_TP	4993376	90972981	42302328	552	22729											
DCN	0	.	GRCh38	chr12	91158408	91158408	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattttttctggcaattcCttcagctgattcttggacag	7	16	9	9	0	3	1	1	1	2	0	4	2	4	2	1	3	1	3	1	3	1	7	rs776646201		C3N-01030_TP	C3N-01030_NB	C	C																c.426G>T	p.Lys142Asn	p.K142N	ENST00000052754	4/8	183	165	18	245	245	0	strelka-varscan-mutect	DCN,missense_variant,p.Lys142Asn,ENST00000052754,NM_001920.3;DCN,missense_variant,p.Lys142Asn,ENST00000393155,NM_133503.2;DCN,missense_variant,p.Lys142Asn,ENST00000552962,;DCN,missense_variant,p.Lys142Asn,ENST00000547937,;DCN,missense_variant,p.Lys142Asn,ENST00000552145,;DCN,missense_variant,p.Lys142Asn,ENST00000550563,;DCN,intron_variant,,ENST00000425043,NM_133505.2;DCN,intron_variant,,ENST00000547568,;DCN,intron_variant,,ENST00000420120,NM_133504.2;DCN,intron_variant,,ENST00000546391,;DCN,intron_variant,,ENST00000441303,NM_133506.2;DCN,intron_variant,,ENST00000456569,NM_133507.2;DCN,downstream_gene_variant,,ENST00000549513,;	A	ENST00000052754	Transcript	missense_variant	928/7156	426/1080	142/359	K/N	aaG/aaT	rs776646201,COSM4437551,COSM5376200	1		-1	DCN	HGNC	HGNC:2705	protein_coding	YES	CCDS9039.1	ENSP00000052754	P07585	Q6FH10	UPI000013187E	NM_001920.3	tolerated(0.09)		4/8		PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF5,PIRSF_domain:PIRSF002490,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs776646201	.												A	3	1	70	91158408	91158408	C	A	1	0	0	0	0	1	0	0	0	4099	680	24	2		2	DCN	12	91158408	Missense_Mutation	SNP	C	C3N-01030_TP	185427	91158408	42116901	553	22730											
UHRF1BP1L	0	.	GRCh38	chr12	100142609	100142609	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacctggagaggtgcttcaaGatttgtttcttgatgatccc	8	14	11	8	0	2	4	1	2	1	2	3	6	3	4	2	2	1	2	2	2	1	4			C3N-01030_TP	C3N-01030_NB	G	G																c.27C>T	p.=	p.I9I	ENST00000279907	1/21	256	224	32	221	221	0	strelka-varscan-mutect	UHRF1BP1L,synonymous_variant,p.=,ENST00000279907,NM_015054.1;UHRF1BP1L,synonymous_variant,p.=,ENST00000356828,NM_001006947.1;RP11-175P13.2,upstream_gene_variant,,ENST00000550886,;UHRF1BP1L,synonymous_variant,p.=,ENST00000547428,;	A	ENST00000279907	Transcript	synonymous_variant	240/5168	27/4395	9/1464	I	atC/atT	COSM4406755,COSM4406756	1		-1	UHRF1BP1L	HGNC	HGNC:29102	protein_coding	YES	CCDS31882.1	ENSP00000279907	A0JNW5		UPI0000160563	NM_015054.1			1/21		Pfam_domain:PF12624,hmmpanther:PTHR22774,hmmpanther:PTHR22774:SF17											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	70	100142609	100142609	G	A	1	0	0	0	0	0	0	0	1	17493	932	33	3		3	UHRF1BP1L	12	100142609	Silent	SNP	G	C3N-01030_TP	8984201	100142609	33132700	554	22731											
ANO4	0	.	GRCh38	chr12	100939445	100939445	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccagcagattggaagccggGggagaggtaagagtatatga	13	6	17	5	1	0	4	0	1	0	3	0	6	0	5	2	4	2	3	2	4	4	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.291G>T	p.=	p.G97G	ENST00000392977	4/28	73	68	5	81	80	1	strelka-mutect	ANO4,synonymous_variant,p.=,ENST00000392979,NM_178826.3;ANO4,synonymous_variant,p.=,ENST00000392977,NM_001286615.1,NM_001286616.1;ANO4,synonymous_variant,p.=,ENST00000549155,;	T	ENST00000392977	Transcript	synonymous_variant	501/3509	291/2868	97/955	G	ggG/ggT		1		1	ANO4	HGNC	HGNC:23837	protein_coding	YES	CCDS66445.1	ENSP00000376703	Q32M45		UPI0000577AB6	NM_001286615.1,NM_001286616.1			4/28		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	70	100939445	100939445	G	T	1	0	0	0	0	0	0	0	1	806	1219	43	2		2	ANO4	12	100939445	Silent	SNP	G	C3N-01030_TP	796836	100939445	32335864	555	22732											
PAH	0	.	GRCh38	chr12	102843669	102843669	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttctccttggcatcattAaaactctctgccacgtaata	11	14	4	12	1	3	0	1	0	2	0	5	0	3	0	2	1	2	2	2	1	4	5	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.1176T>A	p.Phe392Leu	p.F392L	ENST00000553106	11/13	417	364	53	370	370	0	strelka-varscan-mutect	PAH,missense_variant,p.Phe392Leu,ENST00000553106,NM_000277.1;PAH,missense_variant,p.Phe387Leu,ENST00000307000,;PAH,missense_variant,p.Phe94Leu,ENST00000635477,;PAH,non_coding_transcript_exon_variant,,ENST00000551114,;PAH,non_coding_transcript_exon_variant,,ENST00000549247,;PAH,non_coding_transcript_exon_variant,,ENST00000635528,;	T	ENST00000553106	Transcript	missense_variant	1649/4122	1176/1359	392/452	F/L	ttT/ttA		1		-1	PAH	HGNC	HGNC:8582	protein_coding	YES	CCDS9092.1	ENSP00000448059	P00439	A0A024RBG4	UPI00001318A0	NM_000277.1	deleterious(0.05)		11/13		PROSITE_profiles:PS51410,hmmpanther:PTHR11473,Gene3D:1.10.800.10,Pfam_domain:PF00351,PIRSF_domain:PIRSF000336,TIGRFAM_domain:TIGR01268,Superfamily_domains:SSF56534,Prints_domain:PR00372																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	102843669	102843669	A	T	1	0	0	0	0	1	0	0	0	11474	359	13	4		4	PAH	12	102843669	Missense_Mutation	SNP	A	C3N-01030_TP	1904224	102843669	30431640	556	22733											
STAB2	0	.	GRCh38	chr12	103673955	103673955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taacaggatagacagcgatgGggcctgcctcactggcacat	11	7	12	11	1	1	1	1	0	0	1	1	3	1	2	2	4	3	1	2	4	2	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2420G>T	p.Gly807Val	p.G807V	ENST00000388887	23/69	97	86	11	110	110	0	strelka-varscan-mutect	STAB2,missense_variant,p.Gly807Val,ENST00000388887,NM_017564.9;RP11-341G23.3,upstream_gene_variant,,ENST00000550175,;	T	ENST00000388887	Transcript	missense_variant	2624/8251	2420/7656	807/2551	G/V	gGg/gTg		1		1	STAB2	HGNC	HGNC:18629	protein_coding	YES	CCDS31888.1	ENSP00000373539	Q8WWQ8		UPI00001ADDF4	NM_017564.9	deleterious(0)		23/69		hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:2gy5A03,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	103673955	103673955	G	T	1	0	0	0	0	1	0	0	0	15616	1232	43	2		2	STAB2	12	103673955	Missense_Mutation	SNP	G	C3N-01030_TP	830286	103673955	29601354	557	22734											
RIC8B	0	.	GRCh38	chr12	106860320	106860320	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgcaggactgttggcGgccaggggcctcttggctgg	5	9	17	10	1	1	0	0	0	1	0	1	1	1	1	2	7	2	4	2	7	1	2	rs778697988		C3N-01030_TP	C3N-01030_NB	G	G																c.1359G>T	p.=	p.A453A	ENST00000392839	8/9	97	89	8	81	81	0	strelka-varscan-mutect	RIC8B,synonymous_variant,p.=,ENST00000392837,;RIC8B,synonymous_variant,p.=,ENST00000355478,;RIC8B,synonymous_variant,p.=,ENST00000392839,NM_018157.2;RIC8B,5_prime_UTR_variant,,ENST00000549643,;RIC8B,downstream_gene_variant,,ENST00000548914,;RIC8B,synonymous_variant,p.=,ENST00000470960,;RIC8B,synonymous_variant,p.=,ENST00000462949,;RIC8B,non_coding_transcript_exon_variant,,ENST00000470628,;	T	ENST00000392839	Transcript	synonymous_variant	1465/2440	1359/1563	453/520	A	gcG/gcT	rs778697988	1		1	RIC8B	HGNC	HGNC:25555	protein_coding	YES	CCDS9109.2	ENSP00000376583	Q9NVN3		UPI00001FB46B	NM_018157.2			8/9		Low_complexity_(Seg):seg,hmmpanther:PTHR12425,hmmpanther:PTHR12425:SF2,Pfam_domain:PF10165,Prints_domain:PR01802																	LOW	1	SNV	1			1										PASS		rs778697988	.												T	2	4	70	106860320	106860320	G	T	1	0	0	0	0	0	0	0	1	13530	1103	39	1		1	RIC8B	12	106860320	Silent	SNP	G	C3N-01030_TP	3186365	106860320	26414989	558	22735											
DDX54	0	.	GRCh38	chr12	113175051	113175051	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcaccagcccgggcaaattCcaccagcagtttgggcagcg	9	5	12	15	3	0	0	0	0	0	0	1	0	1	0	4	2	3	5	4	2	1	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.859G>T	p.Glu287Ter	p.E287*	ENST00000314045	8/20	176	130	46	139	139	0	strelka-varscan-mutect	DDX54,stop_gained,p.Glu287Ter,ENST00000314045,NM_001111322.1;DDX54,stop_gained,p.Glu287Ter,ENST00000306014,NM_024072.3;DDX54,stop_gained,p.Glu204Ter,ENST00000552375,;Y_RNA,downstream_gene_variant,,ENST00000364338,;DDX54,3_prime_UTR_variant,,ENST00000551344,;DDX54,downstream_gene_variant,,ENST00000546869,;	A	ENST00000314045	Transcript	stop_gained	887/4380	859/2649	287/882	E/*	Gaa/Taa		1		-1	DDX54	HGNC	HGNC:20084	protein_coding	YES	CCDS44984.1	ENSP00000323858	Q8TDD1		UPI000006F3A5	NM_001111322.1			8/20		PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF292,hmmpanther:PTHR24031,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	113175051	113175051	C	A	1	0	0	0	0	0	1	0	0	4175	864	30	2		2	DDX54	12	113175051	Nonsense_Mutation	SNP	C	C3N-01030_TP	6314731	113175051	20100258	559	22736											
NOS1	0	.	GRCh38	chr12	117278029	117278029	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcagggtcattgccgtTggcctgaagcaggagcggca	8	7	16	10	2	2	1	2	1	0	0	2	3	2	2	2	4	4	4	2	4	1	2	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.1594A>T	p.Asn532Tyr	p.N532Y	ENST00000618760	9/30	73	65	8	100	100	0	strelka-varscan-mutect	NOS1,missense_variant,p.Asn532Tyr,ENST00000618760,NM_001204218.1;NOS1,missense_variant,p.Asn532Tyr,ENST00000317775,NM_001204214.1,NM_000620.4,NM_001204213.1;NOS1,missense_variant,p.Asn532Tyr,ENST00000338101,;NOS1,missense_variant,p.Asn531Tyr,ENST00000344089,;	A	ENST00000618760	Transcript	missense_variant	2305/12283	1594/4407	532/1468	N/Y	Aac/Tac		1		-1	NOS1	HGNC	HGNC:7872	protein_coding	YES	CCDS55890.1	ENSP00000477999	P29475		UPI00001FBC10	NM_001204218.1	deleterious(0)		9/30		Pfam_domain:PF02898,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	117278029	117278029	T	A	1	0	0	0	0	1	0	0	0	10586	1812	63	4		4	NOS1	12	117278029	Missense_Mutation	SNP	T	C3N-01030_TP	4102978	117278029	15997280	560	22737											
HNF1A	0	.	GRCh38	chr12	120999544	120999544	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacacgccggcatctcaggCcaccaccctccacgtcccca	8	5	6	22	3	2	0	2	0	1	0	5	0	4	0	7	2	0	1	7	2	0	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1706C>G	p.Ala569Gly	p.A569G	ENST00000544413	9/10	239	203	36	186	186	0	strelka-varscan-mutect	HNF1A,missense_variant,p.Ala562Gly,ENST00000257555,NM_000545.5;HNF1A,missense_variant,p.Ala593Gly,ENST00000541395,;HNF1A,missense_variant,p.Ala383Gly,ENST00000543427,;HNF1A,missense_variant,p.Ala158Gly,ENST00000615446,;HNF1A,missense_variant,p.Ala569Gly,ENST00000544413,NM_001306179.1;HNF1A,3_prime_UTR_variant,,ENST00000617366,;C12orf43,downstream_gene_variant,,ENST00000288757,NM_022895.2,NM_001286192.1;C12orf43,downstream_gene_variant,,ENST00000445832,NM_001286198.1;HNF1A,downstream_gene_variant,,ENST00000400024,;C12orf43,downstream_gene_variant,,ENST00000537817,NM_001286191.1;C12orf43,downstream_gene_variant,,ENST00000539736,NM_001286195.1,NM_001286196.1;C12orf43,downstream_gene_variant,,ENST00000535367,;C12orf43,downstream_gene_variant,,ENST00000538296,NM_001286197.1;HNF1A,downstream_gene_variant,,ENST00000538626,;HNF1A,downstream_gene_variant,,ENST00000535955,;HNF1A,3_prime_UTR_variant,,ENST00000540108,;HNF1A,3_prime_UTR_variant,,ENST00000560968,;HNF1A,downstream_gene_variant,,ENST00000402929,;C12orf43,downstream_gene_variant,,ENST00000502891,;HNF1A,downstream_gene_variant,,ENST00000538646,;HNF1A,downstream_gene_variant,,ENST00000541924,;C12orf43,downstream_gene_variant,,ENST00000546272,;HNF1A,downstream_gene_variant,,ENST00000543255,;HNF1A,downstream_gene_variant,,ENST00000544574,;	G	ENST00000544413	Transcript	missense_variant	1726/2014	1706/1917	569/638	A/G	gCc/gGc		1		1	HNF1A	HGNC	HGNC:11621	protein_coding	YES	CCDS76611.1	ENSP00000438804		F5H0K0	UPI000204ABCC	NM_001306179.1	tolerated_low_confidence(0.09)		9/10		Pfam_domain:PF04813,hmmpanther:PTHR11568,hmmpanther:PTHR11568:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	120999544	120999544	C	G	1	0	0	0	0	1	0	0	0	7142	739	26	4		4	HNF1A	12	120999544	Missense_Mutation	SNP	C	C3N-01030_TP	3721515	120999544	12275765	561	22738											
MLXIP	0	.	GRCh38	chr12	122130873	122130873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaatgcagacatgatccagCcgggactgattcctttgcag	11	9	11	10	1	0	3	0	2	0	1	2	5	2	4	3	1	3	2	3	1	1	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.940C>T	p.Pro314Ser	p.P314S	ENST00000319080	7/17	126	85	41	161	161	0	strelka-varscan-mutect	MLXIP,missense_variant,p.Pro314Ser,ENST00000319080,NM_014938.5;MLXIP,missense_variant,p.Pro65Ser,ENST00000535430,;MLXIP,upstream_gene_variant,,ENST00000538698,;MLXIP,upstream_gene_variant,,ENST00000366272,;MLXIP,upstream_gene_variant,,ENST00000377037,;MLXIP,upstream_gene_variant,,ENST00000542417,;MLXIP,upstream_gene_variant,,ENST00000535996,;MLXIP,non_coding_transcript_exon_variant,,ENST00000539861,;MLXIP,non_coding_transcript_exon_variant,,ENST00000538061,;MLXIP,upstream_gene_variant,,ENST00000541750,;MLXIP,downstream_gene_variant,,ENST00000535876,;	T	ENST00000319080	Transcript	missense_variant	1072/8427	940/2760	314/919	P/S	Ccg/Tcg		1		1	MLXIP	HGNC	HGNC:17055	protein_coding	YES	CCDS73540.1	ENSP00000312834	Q9HAP2		UPI0000D6226F	NM_014938.5	deleterious(0)		7/17		hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	122130873	122130873	C	T	1	0	0	0	0	1	0	0	0	9599	739	26	3		3	MLXIP	12	122130873	Missense_Mutation	SNP	C	C3N-01030_TP	1131329	122130873	11144436	562	22739											
HCAR2	0	.	GRCh38	chr12	122703071	122703071	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcagtagaaagtcagcCactgccaggttgaacaggaa	15	7	11	8	0	2	3	2	2	0	1	2	4	2	4	2	2	3	2	2	2	4	2	rs200828023		C3N-01030_TP	C3N-01030_NB	C	C																c.213G>A	p.=	p.V71V	ENST00000328880	1/1	324	248	76	376	376	0	strelka-varscan-mutect	HCAR2,synonymous_variant,p.=,ENST00000328880,NM_177551.3;RP11-324E6.6,intron_variant,,ENST00000543611,;	T	ENST00000328880	Transcript	synonymous_variant	273/2051	213/1092	71/363	V	gtG/gtA	rs200828023,COSM3870975	1		-1	HCAR2	HGNC	HGNC:24827	protein_coding	YES	CCDS9235.1	ENSP00000375066	Q8TDS4		UPI000003BCD5	NM_177551.3			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF0,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						LOW		SNV			0,1	1										PASS		rs200828023	.												T	2	4	70	122703071	122703071	C	T	1	0	0	0	0	0	0	0	1	6876	581	21	3		3	HCAR2	12	122703071	Silent	SNP	C	C3N-01030_TP	572198	122703071	10572238	563	22740											
ATP6V0A2	0	.	GRCh38	chr12	123748588	123748588	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctaggcacttcaggaagAagttcaacatttacctggtt	11	13	8	9	0	2	1	2	0	0	1	3	2	3	2	2	3	2	3	2	3	5	7	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.1738A>T	p.Lys580Ter	p.K580*	ENST00000330342	15/20	323	224	99	408	408	0	strelka-varscan-mutect	ATP6V0A2,stop_gained,p.Lys580Ter,ENST00000330342,NM_012463.3;ATP6V0A2,downstream_gene_variant,,ENST00000504192,;ATP6V0A2,upstream_gene_variant,,ENST00000534943,;ATP6V0A2,downstream_gene_variant,,ENST00000536426,;ATP6V0A2,downstream_gene_variant,,ENST00000545059,;	T	ENST00000330342	Transcript	stop_gained	1986/6542	1738/2571	580/856	K/*	Aag/Tag		1		1	ATP6V0A2	HGNC	HGNC:18481	protein_coding	YES	CCDS9254.1	ENSP00000332247	Q9Y487		UPI00001AFC09	NM_012463.3			15/20		hmmpanther:PTHR11629:SF22,hmmpanther:PTHR11629,Pfam_domain:PF01496,PIRSF_domain:PIRSF001293																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	70	123748588	123748588	A	T	1	0	0	0	0	0	1	0	0	1322	247	9	4		4	ATP6V0A2	12	123748588	Nonsense_Mutation	SNP	A	C3N-01030_TP	1045517	123748588	9526721	564	22741											
TMEM132B	0	.	GRCh38	chr12	125653789	125653789	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaccttgtcagaagacCaagaggaagagtgttcttgc	13	9	12	7	0	2	5	1	1	1	4	2	6	2	6	2	1	2	1	2	1	4	3	rs751675215		C3N-01030_TP	C3N-01030_NB	C	C																c.2316C>A	p.=	p.T772T	ENST00000299308	9/9	215	159	56	246	246	0	strelka-varscan-mutect	TMEM132B,synonymous_variant,p.=,ENST00000299308,NM_052907.3;TMEM132B,synonymous_variant,p.=,ENST00000613307,NM_001286219.1;TMEM132B,non_coding_transcript_exon_variant,,ENST00000535886,;	A	ENST00000299308	Transcript	synonymous_variant	2324/10906	2316/3237	772/1078	T	acC/acA	rs751675215	1		1	TMEM132B	HGNC	HGNC:29397	protein_coding	YES	CCDS41859.1	ENSP00000299308	Q14DG7		UPI00006BFF58	NM_052907.3			9/9		hmmpanther:PTHR13388:SF12,hmmpanther:PTHR13388																	LOW	1	SNV	5			1										PASS		rs751675215	.												A	2	1	70	125653789	125653789	C	A	1	0	0	0	0	0	0	0	1	16490	581	21	2		2	TMEM132B	12	125653789	Silent	SNP	C	C3N-01030_TP	1905201	125653789	7621520	565	22742											
FZD10	0	.	GRCh38	chr12	130164480	130164480	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatctttatgctgctggTggtggggatcaccagcggga	8	10	16	7	1	2	1	1	0	1	1	2	4	2	3	1	5	3	2	1	5	2	2	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.1538T>C	p.Val513Ala	p.V513A	ENST00000229030	1/1	125	117	8	88	88	0	strelka-varscan-mutect	FZD10,missense_variant,p.Val513Ala,ENST00000229030,NM_007197.3;FZD10,3_prime_UTR_variant,,ENST00000539839,;FZD10-AS1,upstream_gene_variant,,ENST00000505807,;FZD10-AS1,upstream_gene_variant,,ENST00000509760,;FZD10-AS1,upstream_gene_variant,,ENST00000537095,;FZD10-AS1,upstream_gene_variant,,ENST00000542000,;	C	ENST00000229030	Transcript	missense_variant	2022/3281	1538/1746	513/581	V/A	gTg/gCg		1		1	FZD10	HGNC	HGNC:4039	protein_coding	YES	CCDS9267.1	ENSP00000229030	Q9ULW2		UPI000004EC92	NM_007197.3	tolerated(0.09)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309,Pfam_domain:PF01534,SMART_domains:SM01330,Prints_domain:PR00489																	MODERATE		SNV				1										PASS		.	.												C	3	2	70	130164480	130164480	T	C	1	0	0	0	0	1	0	0	0	6000	1696	59	5		5	FZD10	12	130164480	Missense_Mutation	SNP	T	C3N-01030_TP	4510691	130164480	3110829	566	22743											
PIWIL1	0	.	GRCh38	chr12	130354925	130354925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtaatgattttaacgtgatGaaagacttagccgttcatac	13	13	8	7	3	1	4	1	3	0	1	1	4	1	4	1	0	3	2	1	0	5	6	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1209G>A	p.Met403Ile	p.M403I	ENST00000245255	11/21	119	103	16	158	158	0	strelka-varscan-mutect	PIWIL1,missense_variant,p.Met403Ile,ENST00000245255,NM_004764.4,NM_001190971.1;RP11-200K12.3,upstream_gene_variant,,ENST00000624997,;	A	ENST00000245255	Transcript	missense_variant	1481/3897	1209/2586	403/861	M/I	atG/atA		1		1	PIWIL1	HGNC	HGNC:9007	protein_coding	YES	CCDS9268.1	ENSP00000245255	Q96J94	A0A024RBS5	UPI000007059F	NM_004764.4,NM_001190971.1	deleterious(0)		11/21		Pfam_domain:PF02170,hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF46,SMART_domains:SM00949,Superfamily_domains:SSF101690																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	130354925	130354925	G	A	1	0	0	0	0	1	0	0	0	12053	1290	45	3		3	PIWIL1	12	130354925	Missense_Mutation	SNP	G	C3N-01030_TP	190445	130354925	2920384	567	22744											
GOLGA3	0	.	GRCh38	chr12	132780816	132780816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgctccttgaggctgttCaccttctccttctccttctc	3	16	5	17	0	4	1	1	1	3	0	8	1	5	1	5	1	1	3	5	1	0	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.3564G>A	p.=	p.V1188V	ENST00000204726	18/24	190	156	34	181	181	0	strelka-varscan-mutect	GOLGA3,synonymous_variant,p.=,ENST00000204726,NM_005895.3;GOLGA3,synonymous_variant,p.=,ENST00000450791,;GOLGA3,synonymous_variant,p.=,ENST00000456883,;AC127070.1,downstream_gene_variant,,ENST00000545875,NM_001172557.1;GOLGA3,downstream_gene_variant,,ENST00000537452,;GOLGA3,upstream_gene_variant,,ENST00000541013,;	T	ENST00000204726	Transcript	synonymous_variant	4123/9252	3564/4497	1188/1498	V	gtG/gtA		1		-1	GOLGA3	HGNC	HGNC:4426	protein_coding	YES	CCDS9281.1	ENSP00000204726	Q08378		UPI0000190979	NM_005895.3			18/24		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF26																	LOW		SNV	5			1										PASS		rs1393264657	.												T	2	4	70	132780816	132780816	C	T	1	0	0	0	0	0	0	0	1	6432	813	29	3		3	GOLGA3	12	132780816	Silent	SNP	C	C3N-01030_TP	2425891	132780816	494493	568	22745											
RXFP2	0	.	GRCh38	chr13	31765058	31765058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaaaacagtatccacaatGctgtgactgcaaagaaactg	16	9	7	9	0	1	2	0	1	1	1	2	2	2	2	1	0	4	3	1	0	6	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.341G>T	p.Cys114Phe	p.C114F	ENST00000298386	4/18	173	121	52	266	266	0	strelka-varscan-mutect	RXFP2,missense_variant,p.Cys114Phe,ENST00000298386,NM_130806.3;RXFP2,missense_variant,p.Cys114Phe,ENST00000380314,NM_001166058.1;	T	ENST00000298386	Transcript	missense_variant	412/3319	341/2265	114/754	C/F	tGc/tTc		1		1	RXFP2	HGNC	HGNC:17318	protein_coding	YES	CCDS9342.1	ENSP00000298386	Q8WXD0		UPI0000049589	NM_130806.3	tolerated(0.2)		4/18		hmmpanther:PTHR24365:SF226,hmmpanther:PTHR24365,Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	31765058	31765058	G	T	1	0	0	0	0	1	0	0	0	14021	1319	46	2		2	RXFP2	13	31765058	Missense_Mutation	SNP	G	C3N-01030_TP		31765058	82599270	569	22746											
ZAR1L	0	.	GRCh38	chr13	32311348	32311348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgtctcctgagggcacGgggcgtctttctcccccgat	3	12	11	15	4	4	1	0	1	4	0	7	2	4	1	3	3	0	1	3	3	0	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.578C>A	p.Pro193Gln	p.P193Q	ENST00000533490	3/6	155	109	46	124	123	1	strelka-varscan-mutect	ZAR1L,missense_variant,p.Pro193Gln,ENST00000533490,;ZAR1L,missense_variant,p.Pro193Gln,ENST00000345108,NM_001136571.1;BRCA2,upstream_gene_variant,,ENST00000380152,;BRCA2,upstream_gene_variant,,ENST00000544455,NM_000059.3;BRCA2,upstream_gene_variant,,ENST00000530893,;	T	ENST00000533490	Transcript	missense_variant	997/1564	578/966	193/321	P/Q	cCg/cAg		1		-1	ZAR1L	HGNC	HGNC:37116	protein_coding	YES	CCDS45023.1	ENSP00000437289	A6NP61		UPI00006C1387		tolerated(0.2)		3/6		hmmpanther:PTHR31054:SF5,hmmpanther:PTHR31054																	MODERATE	1	SNV	5			1										PASS		rs1030646054	.												T	3	4	70	32311348	32311348	G	T	1	0	0	0	0	1	0	0	0	18077	1116	39	1		1	ZAR1L	13	32311348	Missense_Mutation	SNP	G	C3N-01030_TP	546290	32311348	82052980	570	22747											
ZAR1L	0	.	GRCh38	chr13	32311408	32311408	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcctgcctgtcagctcctGacctccgtgatggtggctgc	3	11	11	16	1	1	2	1	2	0	0	4	2	4	2	6	2	3	2	6	2	0	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.518C>G	p.Ser173Ter	p.S173*	ENST00000533490	3/6	223	192	31	210	210	0	strelka-varscan-mutect	ZAR1L,stop_gained,p.Ser173Ter,ENST00000533490,;ZAR1L,stop_gained,p.Ser173Ter,ENST00000345108,NM_001136571.1;BRCA2,upstream_gene_variant,,ENST00000380152,;BRCA2,upstream_gene_variant,,ENST00000544455,NM_000059.3;BRCA2,upstream_gene_variant,,ENST00000530893,;	C	ENST00000533490	Transcript	stop_gained	937/1564	518/966	173/321	S/*	tCa/tGa		1		-1	ZAR1L	HGNC	HGNC:37116	protein_coding	YES	CCDS45023.1	ENSP00000437289	A6NP61		UPI00006C1387				3/6		hmmpanther:PTHR31054:SF5,hmmpanther:PTHR31054																	HIGH	1	SNV	5			1										PASS		.	.												C	4	2	70	32311408	32311408	G	C	1	0	0	0	0	0	1	0	0	18077	1294	45	4		4	ZAR1L	13	32311408	Nonsense_Mutation	SNP	G	C3N-01030_TP	60	32311408	82052920	571	22748											
PDS5B	0	.	GRCh38	chr13	32770749	32770749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgccatcaccatcacaacCaaaaaaaaatgtgtaagttg	19	7	5	10	1	2	0	2	0	0	0	2	0	2	0	3	0	2	2	3	0	7	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.4160C>A	p.Pro1387Gln	p.P1387Q	ENST00000315596	33/35	117	111	6	143	141	2	strelka-mutect	PDS5B,missense_variant,p.Pro1387Gln,ENST00000315596,NM_015032.3;PDS5B,downstream_gene_variant,,ENST00000447833,;PDS5B,missense_variant,p.Pro1387Gln,ENST00000450460,;PDS5B,non_coding_transcript_exon_variant,,ENST00000474274,;	A	ENST00000315596	Transcript	missense_variant	4346/7497	4160/4344	1387/1447	P/Q	cCa/cAa		1		1	PDS5B	HGNC	HGNC:20418	protein_coding	YES	CCDS41878.1	ENSP00000313851	Q9NTI5		UPI000006D4A9	NM_015032.3	tolerated_low_confidence(0.15)		33/35		hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1270125766	.												A	3	1	70	32770749	32770749	C	A	1	0	0	0	0	1	0	0	0	11780	594	21	2		2	PDS5B	13	32770749	Missense_Mutation	SNP	C	C3N-01030_TP	459341	32770749	81593579	572	22749											
ENOX1	0	.	GRCh38	chr13	43359991	43359991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcctcagtagcattttctGgtaatcctccgacaaacacg	10	13	6	12	2	2	0	1	0	1	0	5	1	5	0	3	1	2	3	3	1	3	5			C3N-01030_TP	C3N-01030_NB	G	G																c.449C>T	p.Pro150Leu	p.P150L	ENST00000261488	7/17	209	160	49	293	293	0	strelka-varscan-mutect	ENOX1,missense_variant,p.Pro150Leu,ENST00000261488,NM_001242863.1,NM_017993.3,NM_001127615.1;ENOX1,non_coding_transcript_exon_variant,,ENST00000482207,;	A	ENST00000261488	Transcript	missense_variant	1027/2982	449/1932	150/643	P/L	cCa/cTa	COSM385847,COSM385848	1		-1	ENOX1	HGNC	HGNC:25474	protein_coding	YES	CCDS9389.1	ENSP00000261488	Q8TC92	A0A024RDT8	UPI0000071D6F	NM_001242863.1,NM_017993.3,NM_001127615.1	deleterious(0)		7/17		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR16001,hmmpanther:PTHR16001:SF6,SMART_domains:SM00360,Superfamily_domains:SSF54928											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	70	43359991	43359991	G	A	1	0	0	0	0	1	0	0	0	4971	1348	47	3		3	ENOX1	13	43359991	Missense_Mutation	SNP	G	C3N-01030_TP	10589242	43359991	71004337	573	22750											
LCP1	0	.	GRCh38	chr13	46158570	46158570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgctctgaagtaccacCgattgcacaaatcccttcct	11	10	6	14	1	1	2	0	1	1	1	3	3	3	2	4	0	3	3	4	0	3	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.310G>A	p.Gly104Ser	p.G104S	ENST00000398576	7/19	182	155	27	222	222	0	strelka-varscan-mutect	LCP1,missense_variant,p.Gly104Ser,ENST00000398576,;LCP1,missense_variant,p.Gly104Ser,ENST00000323076,NM_002298.4;LCP1,missense_variant,p.Gly104Ser,ENST00000416500,;LCP1,downstream_gene_variant,,ENST00000442275,;LCP1,downstream_gene_variant,,ENST00000460190,;	T	ENST00000398576	Transcript	missense_variant	699/3944	310/1884	104/627	G/S	Ggt/Agt		1		-1	LCP1	HGNC	HGNC:6528	protein_coding	YES	CCDS9403.1	ENSP00000381581	P13796	A0A024RDT4	UPI0000070B5C		tolerated(0.11)		7/19		hmmpanther:PTHR19961,hmmpanther:PTHR19961:SF35																	MODERATE	1	SNV	5			1										PASS		rs1278205681	.												T	3	4	70	46158570	46158570	C	T	1	0	0	0	0	1	0	0	0	8597	652	23	1		1	LCP1	13	46158570	Missense_Mutation	SNP	C	C3N-01030_TP	2798579	46158570	68205758	574	22751											
KIAA0226L	0	.	GRCh38	chr13	46356456	46356456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctactggagttccacagcCggcacagaaaaaattctggg	12	8	10	11	1	2	1	0	0	2	1	3	2	3	2	2	3	2	2	2	3	4	3	rs779437381		C3N-01030_TP	C3N-01030_NB	C	C																c.1306G>T	p.Gly436Cys	p.G436C	ENST00000429979	10/15	133	120	13	146	146	0	strelka-varscan-mutect	KIAA0226L,missense_variant,p.Gly436Cys,ENST00000429979,NM_025113.3;KIAA0226L,missense_variant,p.Gly436Cys,ENST00000389908,NM_001286761.1;KIAA0226L,missense_variant,p.Gly279Cys,ENST00000378781,NM_001286765.1;KIAA0226L,missense_variant,p.Gly221Cys,ENST00000378797,NM_001286766.1;KIAA0226L,missense_variant,p.Gly279Cys,ENST00000409879,;KIAA0226L,missense_variant,p.Gly436Cys,ENST00000378787,NM_001286762.1;KIAA0226L,missense_variant,p.Gly369Cys,ENST00000378784,NM_001286763.1;KIAA0226L,missense_variant,p.Gly301Cys,ENST00000631139,NM_001286764.1;KIAA0226L,3_prime_UTR_variant,,ENST00000441284,;	A	ENST00000429979	Transcript	missense_variant	1911/3979	1306/1989	436/662	G/C	Ggc/Tgc	rs779437381	1		-1	KIAA0226L	HGNC	HGNC:20420	protein_coding	YES	CCDS31970.2	ENSP00000396935	Q9H714		UPI00001FCD59	NM_025113.3	deleterious(0)		10/15		hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF14																	MODERATE	1	SNV	5			1										PASS		rs779437381	.												A	3	1	70	46356456	46356456	C	A	1	0	0	0	0	1	0	0	0	8078	652	23	1		1	KIAA0226L	13	46356456	Missense_Mutation	SNP	C	C3N-01030_TP	197886	46356456	68007872	575	22752											
ATP7B	0	.	GRCh38	chr13	51974491	51974491	+	Frame_Shift_Del	DEL	A	A	-																															cccaaggtctcagaattattAaaattctggttagcagaaga																								novel		C3N-01030_TP	C3N-01030_NB	A	A																c.729delT	p.Phe243LeufsTer19	p.F243Lfs*19	ENST00000242839	2/21	288	216	72	364	364	0	sindel-varindel-pindel	ATP7B,frameshift_variant,p.Phe243LeufsTer19,ENST00000242839,NM_000053.3;ATP7B,frameshift_variant,p.Phe243LeufsTer19,ENST00000448424,;ATP7B,frameshift_variant,p.Phe243LeufsTer19,ENST00000400366,NM_001243182.1;ATP7B,frameshift_variant,p.Phe243LeufsTer19,ENST00000344297,NM_001005918.2;ATP7B,frameshift_variant,p.Phe243LeufsTer19,ENST00000634844,;ATP7B,frameshift_variant,p.Phe243LeufsTer19,ENST00000418097,;ATP7B,frameshift_variant,p.Phe243LeufsTer19,ENST00000400370,;ATP7B,non_coding_transcript_exon_variant,,ENST00000482841,;ATP7B,intron_variant,,ENST00000635406,;ATP7B,upstream_gene_variant,,ENST00000483772,;ATP7B,frameshift_variant,p.Phe243LeufsTer19,ENST00000634308,;ATP7B,upstream_gene_variant,,ENST00000634620,;	-	ENST00000242839	Transcript	frameshift_variant	886/6638	729/4398	243/1465	F/X	ttT/tt		1		-1	ATP7B	HGNC	HGNC:870	protein_coding	YES	CCDS41892.1	ENSP00000242839	P35670	A0A024RDX3	UPI00001FCE15	NM_000053.3			2/21																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	70	51974491	51974491	A	-	1	0	1	0	1	0	0	0	0	1344	359	13	0		0	ATP7B	13	51974491	Frame_Shift_Del	DEL	A	C3N-01030_TP	5618035	51974491	62389837	576	22753											
LECT1	0	.	GRCh38	chr13	52703712	52703712	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccccccaggggttcacaGatcttctggcagtgggtgta	7	10	13	11	0	3	1	1	0	2	1	3	1	3	1	3	4	1	3	3	4	2	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.888C>A	p.=	p.I296I	ENST00000377962	7/7	173	146	27	167	167	0	strelka-varscan-mutect	LECT1,synonymous_variant,p.=,ENST00000448904,NM_001011705.1;LECT1,synonymous_variant,p.=,ENST00000377962,NM_007015.2;SUGT1,downstream_gene_variant,,ENST00000310528,NM_006704.3;	T	ENST00000377962	Transcript	synonymous_variant	967/1410	888/1005	296/334	I	atC/atA		1		-1	LECT1	HGNC	HGNC:17005	protein_coding	YES	CCDS9437.1	ENSP00000367198	O75829		UPI000003F666	NM_007015.2			7/7		hmmpanther:PTHR14064:SF6,hmmpanther:PTHR14064																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	52703712	52703712	G	T	1	0	0	0	0	0	0	0	1	8620	932	33	2		2	LECT1	13	52703712	Silent	SNP	G	C3N-01030_TP	729221	52703712	61660616	577	22754											
PCDH8	0	.	GRCh38	chr13	52846753	52846753	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcgaagctgcgcagcgcgtAgatggctccggtagctgggt	6	8	17	10	5	0	1	0	0	0	1	2	2	1	1	1	3	4	6	1	3	3	2	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.1684T>A	p.Tyr562Asn	p.Y562N	ENST00000377942	1/3	111	79	32	118	118	0	strelka-varscan-mutect	PCDH8,missense_variant,p.Tyr562Asn,ENST00000377942,NM_002590.3;PCDH8,missense_variant,p.Tyr562Asn,ENST00000338862,NM_032949.2;PCDH8,upstream_gene_variant,,ENST00000613548,;	T	ENST00000377942	Transcript	missense_variant	1888/5088	1684/3213	562/1070	Y/N	Tac/Aac		1		-1	PCDH8	HGNC	HGNC:8660	protein_coding	YES	CCDS9438.1	ENSP00000367177	O95206		UPI0000072D47	NM_002590.3	deleterious(0.01)		1/3		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF46,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	52846753	52846753	A	T	1	0	0	0	0	1	0	0	0	11604	420	15	4		4	PCDH8	13	52846753	Missense_Mutation	SNP	A	C3N-01030_TP	143041	52846753	61517575	578	22755											
SLITRK1	0	.	GRCh38	chr13	83880890	83880890	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggttatcctctagcaggatCtccgcaataccagggatttg	9	11	11	10	1	2	0	0	0	2	0	4	2	3	2	3	3	2	3	3	3	4	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.618G>C	p.Glu206Asp	p.E206D	ENST00000377084	1/1	347	304	43	402	402	0	strelka-varscan-mutect	SLITRK1,missense_variant,p.Glu206Asp,ENST00000377084,NM_052910.2,NM_001281503.1;	G	ENST00000377084	Transcript	missense_variant	1504/5189	618/2091	206/696	E/D	gaG/gaC		1		-1	SLITRK1	HGNC	HGNC:20297	protein_coding	YES	CCDS9464.1	ENSP00000366288	Q96PX8		UPI0000035971	NM_052910.2,NM_001281503.1	deleterious(0)		1/1		Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF33,Superfamily_domains:SSF52058																	MODERATE	1	SNV				1										PASS		rs1216228073	.												G	3	3	70	83880890	83880890	C	G	1	0	0	0	0	1	0	0	0	15033	912	32	4		4	SLITRK1	13	83880890	Missense_Mutation	SNP	C	C3N-01030_TP	31034137	83880890	30483438	579	22756											
TM9SF2	0	.	GRCh38	chr13	99541621	99541621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtagctatgattatgttacGgacactgcacaaagatattg	13	12	10	6	1	0	2	0	1	0	1	0	3	0	3	0	2	3	4	0	2	6	6	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.971G>T	p.Arg324Leu	p.R324L	ENST00000376387	9/17	110	90	20	192	192	0	strelka-varscan-mutect	TM9SF2,missense_variant,p.Arg324Leu,ENST00000376387,NM_004800.2;TM9SF2,non_coding_transcript_exon_variant,,ENST00000466555,;TM9SF2,downstream_gene_variant,,ENST00000463709,;	T	ENST00000376387	Transcript	missense_variant	1161/3430	971/1992	324/663	R/L	cGg/cTg		1		1	TM9SF2	HGNC	HGNC:11865	protein_coding	YES	CCDS9493.1	ENSP00000365567	Q99805	A0A024QYR8	UPI000013684D	NM_004800.2	deleterious(0)		9/17		hmmpanther:PTHR10766,hmmpanther:PTHR10766:SF36,Pfam_domain:PF02990																	MODERATE	1	SNV	1			1										PASS		rs1393669448	.												T	3	4	70	99541621	99541621	G	T	1	0	0	0	0	1	0	0	0	16422	1116	39	1		1	TM9SF2	13	99541621	Missense_Mutation	SNP	G	C3N-01030_TP	15660731	99541621	14822707	580	22757											
NALCN	0	.	GRCh38	chr13	101067986	101067986	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcattgtaacttaaaagctGgtcctcctcagtggaataaa	14	12	7	8	0	2	0	2	0	0	0	4	1	4	1	2	2	2	2	2	2	6	4			C3N-01030_TP	C3N-01030_NB	G	G																c.4378C>T	p.Gln1460Ter	p.Q1460*	ENST00000251127	39/44	106	90	16	212	211	1	strelka-varscan-mutect	NALCN,stop_gained,p.Gln1460Ter,ENST00000251127,NM_052867.2;	A	ENST00000251127	Transcript	stop_gained	4460/6818	4378/5217	1460/1738	Q/*	Cag/Tag	COSM469139	1		-1	NALCN	HGNC	HGNC:19082	protein_coding	YES	CCDS9498.1	ENSP00000251127	Q8IZF0	A0A024RE05	UPI000004EBBD	NM_052867.2			39/44		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF214											1						HIGH	1	SNV	1		1	1										PASS		rs1335710703	.												A	4	1	70	101067986	101067986	G	A	1	0	0	0	0	0	1	0	0	10155	1357	47	3		3	NALCN	13	101067986	Nonsense_Mutation	SNP	G	C3N-01030_TP	1526365	101067986	13296342	581	22758											
CCDC168	0	.	GRCh38	chr13	102741220	102741220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgattttaatgtaatatcCaactttgattgctcttttcc	9	21	4	7	0	1	2	0	2	1	0	3	2	3	2	2	0	2	2	2	0	4	9	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.9477G>T	p.Leu3159Phe	p.L3159F	ENST00000322527	4/4	95	85	10	159	159	0	strelka-varscan-mutect	CCDC168,missense_variant,p.Leu3159Phe,ENST00000322527,NM_001146197.1;LINC00283,upstream_gene_variant,,ENST00000430111,;	A	ENST00000322527	Transcript	missense_variant	9615/21466	9477/21246	3159/7081	L/F	ttG/ttT		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	deleterious(0.02)		4/4																			MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	70	102741220	102741220	C	A	1	0	0	0	0	1	0	0	0	2484	593	21	2		2	CCDC168	13	102741220	Missense_Mutation	SNP	C	C3N-01030_TP	1673234	102741220	11623108	582	22759											
COL4A2	0	.	GRCh38	chr13	110450379	110450379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggcatccctgcgctctacGggggcccacctggacctgat	5	7	12	17	3	1	1	0	1	1	0	2	2	2	2	5	4	2	2	5	4	1	1	rs779091629		C3N-01030_TP	C3N-01030_NB	G	G																c.1264G>A	p.Gly422Arg	p.G422R	ENST00000360467	20/48	189	160	29	174	174	0	strelka-varscan-mutect	COL4A2,missense_variant,p.Gly422Arg,ENST00000360467,NM_001846.2;	A	ENST00000360467	Transcript	missense_variant	1570/6281	1264/5139	422/1712	G/R	Ggg/Agg	rs779091629,COSM4673813	1		1	COL4A2	HGNC	HGNC:2203	protein_coding	YES	CCDS41907.1	ENSP00000353654	P08572	A0A024RDW8	UPI000041C713	NM_001846.2	tolerated(0.07)		20/48		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs779091629	.												A	3	1	70	110450379	110450379	G	A	1	0	0	0	0	1	0	0	0	3479	1116	39	1		1	COL4A2	13	110450379	Missense_Mutation	SNP	G	C3N-01030_TP	7709159	110450379	3913949	583	22760											
GRK1	0	.	GRCh38	chr13	113735344	113735344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagctcctcgtccaagtcagGgatgtgtctggtttcctagg	6	12	12	11	1	2	0	1	0	1	0	6	1	5	1	3	3	1	2	3	3	2	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1673G>A	p.Gly558Glu	p.G558E	ENST00000335678	7/7	18	15	3	31	31	0	strelka-mutect	GRK1,missense_variant,p.Gly558Glu,ENST00000335678,;GRK1,downstream_gene_variant,,ENST00000545304,;GRK1,non_coding_transcript_exon_variant,,ENST00000606140,;	A	ENST00000335678	Transcript	missense_variant	1905/4296	1673/1692	558/563	G/E	gGg/gAg		1		1	GRK1	HGNC	HGNC:10013	protein_coding	YES		ENSP00000334876	Q15835		UPI0000133B08		deleterious(0)		7/7		hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF11,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	113735344	113735344	G	A	1	0	0	0	0	1	0	0	0	6671	1232	43	3		3	GRK1	13	113735344	Missense_Mutation	SNP	G	C3N-01030_TP	3284965	113735344	628984	584	22761											
RASA3	0	.	GRCh38	chr13	114011213	114011213	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgagggtctgaacggtcttGgagatcaatgtcagcgtcct	8	10	13	10	3	4	2	2	1	2	1	5	4	5	2	2	3	2	0	2	3	2	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1548C>A	p.=	p.S516S	ENST00000334062	16/24	202	171	31	232	232	0	strelka-varscan-mutect	RASA3,synonymous_variant,p.=,ENST00000334062,NM_001320822.1,NM_007368.2;	T	ENST00000334062	Transcript	synonymous_variant	1670/4191	1548/2505	516/834	S	tcC/tcA		1		-1	RASA3	HGNC	HGNC:20331	protein_coding	YES	CCDS32016.1	ENSP00000335029	Q14644		UPI000000DBC1	NM_001320822.1,NM_007368.2			16/24		Gene3D:1.10.506.10,Pfam_domain:PF00616,PROSITE_profiles:PS50018,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF53,SMART_domains:SM00323,Superfamily_domains:SSF48350																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	114011213	114011213	G	T	1	0	0	0	0	0	0	0	1	13221	1335	47	2		2	RASA3	13	114011213	Silent	SNP	G	C3N-01030_TP	275869	114011213	353115	585	22762											
OR11H6	0	.	GRCh38	chr14	20224092	20224092	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttttttcactgggtacaaCagagtgtttctttttatcag	8	19	7	7	0	3	1	2	0	1	1	3	1	3	1	0	1	2	2	0	1	3	8	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.383C>A	p.Thr128Lys	p.T128K	ENST00000315519	1/1	194	137	57	211	211	0	strelka-varscan-mutect	OR11H6,missense_variant,p.Thr128Lys,ENST00000315519,NM_001004480.1;	A	ENST00000315519	Transcript	missense_variant	461/1174	383/993	128/330	T/K	aCa/aAa		1		1	OR11H6	HGNC	HGNC:15349	protein_coding	YES	CCDS32033.1	ENSP00000319071	Q8NGC7	A0A126GVP4	UPI000004B1F1	NM_001004480.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF90,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1184166572	.												A	3	1	70	20224092	20224092	C	A	1	0	0	0	0	1	0	0	0	11006	478	17	2		2	OR11H6	14	20224092	Missense_Mutation	SNP	C	C3N-01030_TP		20224092	86819626	586	22763											
CCNB1IP1	0	.	GRCh38	chr14	20313489	20313489	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgggaagccaagaacacCagactgtgcaatcatggatg	15	7	11	8	0	1	2	1	0	0	2	1	4	1	4	2	2	3	1	2	2	5	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.610G>C	p.Gly204Arg	p.G204R	ENST00000437553	7/8	54	43	11	63	63	0	strelka-varscan-mutect	CCNB1IP1,missense_variant,p.Gly204Arg,ENST00000437553,NM_182852.3;CCNB1IP1,missense_variant,p.Gly204Arg,ENST00000398169,;CCNB1IP1,missense_variant,p.Gly204Arg,ENST00000398160,;CCNB1IP1,missense_variant,p.Gly204Arg,ENST00000398163,;CCNB1IP1,missense_variant,p.Gly204Arg,ENST00000358932,NM_021178.4;CCNB1IP1,missense_variant,p.Gly204Arg,ENST00000353689,NM_182849.2;CCNB1IP1,downstream_gene_variant,,ENST00000557665,;CCNB1IP1,downstream_gene_variant,,ENST00000556563,;CCNB1IP1,downstream_gene_variant,,ENST00000553291,;CCNB1IP1,downstream_gene_variant,,ENST00000553516,;CCNB1IP1,3_prime_UTR_variant,,ENST00000556854,;CCNB1IP1,3_prime_UTR_variant,,ENST00000554184,;CCNB1IP1,downstream_gene_variant,,ENST00000554047,;	G	ENST00000437553	Transcript	missense_variant	1280/1686	610/834	204/277	G/R	Ggt/Cgt		1		-1	CCNB1IP1	HGNC	HGNC:19437	protein_coding	YES	CCDS9547.1	ENSP00000409896	Q9NPC3		UPI000000CBC0	NM_182852.3	tolerated_low_confidence(0.08)		7/8		hmmpanther:PTHR14305																	MODERATE	1	SNV	5			1										PASS		rs1207876894	.												G	3	3	70	20313489	20313489	C	G	1	0	0	0	0	1	0	0	0	2611	594	21	4		4	CCNB1IP1	14	20313489	Missense_Mutation	SNP	C	C3N-01030_TP	89397	20313489	86730229	587	22764											
PRMT5	0	.	GRCh38	chr14	22928571	22928571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttcctgaatgaactccCtcttgaaacgcggatggaag	11	9	11	10	2	1	3	0	3	1	0	3	5	3	5	2	3	2	1	2	3	4	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.155G>T	p.Arg52Met	p.R52M	ENST00000324366	2/17	284	229	55	197	197	0	strelka-varscan-mutect	PRMT5,missense_variant,p.Arg52Met,ENST00000324366,NM_006109.4;PRMT5,missense_variant,p.Arg35Met,ENST00000397441,NM_001039619.2;PRMT5,missense_variant,p.Arg35Met,ENST00000216350,NM_001282954.1,NM_001282953.1;PRMT5,missense_variant,p.Arg35Met,ENST00000397440,NM_001282956.1;PRMT5,missense_variant,p.Arg52Met,ENST00000553897,NM_001282955.1;PRMT5,missense_variant,p.Arg52Met,ENST00000553550,;PRMT5,missense_variant,p.Arg10Met,ENST00000554910,;PRMT5,missense_variant,p.Arg52Met,ENST00000421938,;PRMT5,missense_variant,p.Arg52Met,ENST00000554867,;PRMT5,intron_variant,,ENST00000556616,;PRMT5,intron_variant,,ENST00000627278,;PRMT5,upstream_gene_variant,,ENST00000555530,;PRMT5,upstream_gene_variant,,ENST00000555454,;PRMT5,upstream_gene_variant,,ENST00000556043,;PRMT5,upstream_gene_variant,,ENST00000553502,;PRMT5-AS1,downstream_gene_variant,,ENST00000599580,;PRMT5-AS1,downstream_gene_variant,,ENST00000587245,;PRMT5-AS1,downstream_gene_variant,,ENST00000590290,;PRMT5-AS1,downstream_gene_variant,,ENST00000595662,;RP11-298I3.1,upstream_gene_variant,,ENST00000548322,;RP11-298I3.1,upstream_gene_variant,,ENST00000548819,;PRMT5,non_coding_transcript_exon_variant,,ENST00000553641,;PRMT5,non_coding_transcript_exon_variant,,ENST00000556426,;PRMT5,non_coding_transcript_exon_variant,,ENST00000554716,;PRMT5,non_coding_transcript_exon_variant,,ENST00000556032,;PRMT5,non_coding_transcript_exon_variant,,ENST00000557015,;PRMT5,intron_variant,,ENST00000553915,;PRMT5,intron_variant,,ENST00000557415,;PRMT5,intron_variant,,ENST00000553787,;PRMT5,upstream_gene_variant,,ENST00000553417,;	A	ENST00000324366	Transcript	missense_variant	379/2531	155/1914	52/637	R/M	aGg/aTg		1		-1	PRMT5	HGNC	HGNC:10894	protein_coding	YES	CCDS9579.1	ENSP00000319169	O14744		UPI000006F09F	NM_006109.4	deleterious(0.01)		2/17		hmmpanther:PTHR10738,PIRSF_domain:PIRSF015894																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	22928571	22928571	C	A	1	0	0	0	0	1	0	0	0	12670	681	24	2		2	PRMT5	14	22928571	Missense_Mutation	SNP	C	C3N-01030_TP	2615082	22928571	84115147	588	22765											
NYNRIN	0	.	GRCh38	chr14	24417183	24417183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgacaaggcgagtgaaaagGccgagaacaggcgtttcaag	14	5	14	8	3	1	3	1	2	0	1	1	5	1	3	1	3	1	1	1	3	5	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.5434G>T	p.Ala1812Ser	p.A1812S	ENST00000382554	9/9	171	134	37	144	143	1	strelka-varscan-mutect	NYNRIN,missense_variant,p.Ala1812Ser,ENST00000382554,NM_025081.2;NYNRIN,downstream_gene_variant,,ENST00000554505,;	T	ENST00000382554	Transcript	missense_variant	5752/7857	5434/5697	1812/1898	A/S	Gcc/Tcc		1		1	NYNRIN	HGNC	HGNC:20165	protein_coding	YES	CCDS45090.1	ENSP00000371994	Q9P2P1		UPI0000251E63	NM_025081.2	deleterious_low_confidence(0.04)		9/9																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	24417183	24417183	G	T	1	0	0	0	0	1	0	0	0	10874	1203	42	2		2	NYNRIN	14	24417183	Missense_Mutation	SNP	G	C3N-01030_TP	1488612	24417183	82626535	589	22766											
CTSG	0	.	GRCh38	chr14	24575299	24575299	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgctgtcagcacaaagtCttctcgcaccaggaaccctc	10	8	8	15	1	3	0	1	0	2	0	5	1	3	1	2	1	4	4	2	1	2	1	rs749550003		C3N-01030_TP	C3N-01030_NB	C	C																c.169G>C	p.Asp57His	p.D57H	ENST00000216336	2/5	215	169	46	143	143	0	strelka-varscan-mutect	CTSG,missense_variant,p.Asp57His,ENST00000216336,NM_001911.2;CTSG,non_coding_transcript_exon_variant,,ENST00000552252,;	G	ENST00000216336	Transcript	missense_variant	206/886	169/768	57/255	D/H	Gac/Cac	rs749550003,COSM4050338	1		-1	CTSG	HGNC	HGNC:2532	protein_coding	YES	CCDS9631.1	ENSP00000216336	P08311		UPI00001270AC	NM_001911.2	deleterious(0)		2/5		Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF13,SMART_domains:SM00020,Superfamily_domains:SSF50494											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs749550003	.												G	3	3	70	24575299	24575299	C	G	1	0	0	0	0	1	0	0	0	3844	913	32	4		4	CTSG	14	24575299	Missense_Mutation	SNP	C	C3N-01030_TP	158116	24575299	82468419	590	22767											
NOVA1	0	.	GRCh38	chr14	26448818	26448818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaggttctccactcacaGtgacaaccctctcttgcaag	9	11	7	14	0	4	1	2	1	2	0	6	1	4	1	2	1	2	3	2	1	2	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.665C>A	p.Thr222Asn	p.T222N	ENST00000539517	5/5	244	181	63	273	273	0	strelka-varscan-mutect	NOVA1,missense_variant,p.Thr222Asn,ENST00000539517,NM_002515.2;NOVA1,missense_variant,p.Thr198Asn,ENST00000465357,NM_006489.2;NOVA1,missense_variant,p.Thr181Asn,ENST00000449198,;NOVA1,missense_variant,p.Thr76Asn,ENST00000347476,;NOVA1,downstream_gene_variant,,ENST00000549571,;NOVA1,downstream_gene_variant,,ENST00000549146,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,3_prime_UTR_variant,,ENST00000546546,;	T	ENST00000539517	Transcript	missense_variant	983/3912	665/1524	222/507	T/N	aCt/aAt		1		-1	NOVA1	HGNC	HGNC:7886	protein_coding	YES	CCDS32061.1	ENSP00000438875	P51513		UPI000013D74E	NM_002515.2	deleterious(0.05)		5/5		PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF150,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	26448818	26448818	G	T	1	0	0	0	0	1	0	0	0	10600	1029	36	2		2	NOVA1	14	26448818	Missense_Mutation	SNP	G	C3N-01030_TP	1873519	26448818	80594900	591	22768											
COCH	0	.	GRCh38	chr14	30886289	30886289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgatgatgtccaaggccCtgcagctgctgcacatgatg	9	10	11	11	0	0	3	0	3	0	0	1	3	1	3	2	1	4	4	2	1	2	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1454C>A	p.Pro485His	p.P485H	ENST00000396618	11/12	144	113	31	138	138	0	strelka-varscan-mutect	COCH,missense_variant,p.Pro373His,ENST00000460581,;COCH,missense_variant,p.Pro485His,ENST00000396618,NM_004086.2;COCH,missense_variant,p.Pro485His,ENST00000216361,NM_001135058.1;COCH,missense_variant,p.Pro369His,ENST00000468826,;COCH,missense_variant,p.Pro485His,ENST00000475087,;COCH,downstream_gene_variant,,ENST00000555881,;RP11-829H16.3,non_coding_transcript_exon_variant,,ENST00000555108,;RP11-829H16.3,non_coding_transcript_exon_variant,,ENST00000556786,;RP11-829H16.3,non_coding_transcript_exon_variant,,ENST00000468444,;RP11-829H16.3,upstream_gene_variant,,ENST00000555421,;COCH,downstream_gene_variant,,ENST00000557065,;COCH,downstream_gene_variant,,ENST00000553772,;	A	ENST00000396618	Transcript	missense_variant	1510/2536	1454/1653	485/550	P/H	cCt/cAt		1		1	COCH	HGNC	HGNC:2180	protein_coding	YES	CCDS9640.1	ENSP00000379862	O43405		UPI0000048EBB	NM_004086.2	deleterious(0)		11/12		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	30886289	30886289	C	A	1	0	0	0	0	1	0	0	0	3444	681	24	2		2	COCH	14	30886289	Missense_Mutation	SNP	C	C3N-01030_TP	4437471	30886289	76157429	592	22769											
KIAA0586	0	.	GRCh38	chr14	58498919	58498919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtctttggatcaacaatGtgatcctaaaccattatctc	13	13	5	10	0	3	1	1	1	2	0	5	2	4	2	2	1	2	0	2	1	5	3	rs764294275		C3N-01030_TP	C3N-01030_NB	G	G																c.4286G>T	p.Cys1429Phe	p.C1429F	ENST00000354386	29/34	109	85	24	144	144	0	strelka-varscan-mutect	KIAA0586,missense_variant,p.Cys1361Phe,ENST00000619416,NM_001244190.1;KIAA0586,missense_variant,p.Cys1332Phe,ENST00000556134,;KIAA0586,missense_variant,p.Cys1291Phe,ENST00000619722,NM_001244191.1;KIAA0586,missense_variant,p.Cys1332Phe,ENST00000423743,NM_001244192.1;KIAA0586,missense_variant,p.Cys1429Phe,ENST00000354386,NM_001244189.1;KIAA0586,missense_variant,p.Cys1300Phe,ENST00000261244,NM_014749.3;KIAA0586,missense_variant,p.Cys58Phe,ENST00000555397,;KIAA0586,non_coding_transcript_exon_variant,,ENST00000538571,;	T	ENST00000354386	Transcript	missense_variant	4530/5226	4286/4935	1429/1644	C/F	tGt/tTt	rs764294275	1		1	KIAA0586	HGNC	HGNC:19960	protein_coding	YES	CCDS58320.1	ENSP00000346359	Q9BVV6		UPI0001AE6998	NM_001244189.1	tolerated(0.06)		29/34		hmmpanther:PTHR15721:SF2,hmmpanther:PTHR15721																	MODERATE	1	SNV	2			1										PASS		rs764294275	.												T	3	4	70	58498919	58498919	G	T	1	0	0	0	0	1	0	0	0	8089	1377	48	2		2	KIAA0586	14	58498919	Missense_Mutation	SNP	G	C3N-01030_TP	27612630	58498919	48544799	593	22770											
CCDC175	0	.	GRCh38	chr14	59568246	59568246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaatataagaatacctaccCcagagcttcattatattttg	14	14	5	8	0	1	3	1	1	0	2	1	3	1	3	3	0	3	1	3	0	8	9	rs17834244		C3N-01030_TP	C3N-01030_NB	C	C																c.490G>T	p.Gly164Trp	p.G164W	ENST00000537690	4/20	102	86	16	105	105	0	strelka-varscan-mutect	CCDC175,missense_variant,p.Gly164Trp,ENST00000537690,NM_001164399.1;CCDC175,missense_variant,p.Gly164Trp,ENST00000281581,;CCDC175,upstream_gene_variant,,ENST00000556996,;CCDC175,upstream_gene_variant,,ENST00000556936,;	A	ENST00000537690	Transcript	missense_variant,splice_region_variant	546/2616	490/2382	164/793	G/W	Ggg/Tgg	rs17834244	1		-1	CCDC175	HGNC	HGNC:19847	protein_coding	YES	CCDS53898.1	ENSP00000453940	P0C221		UPI000059D254	NM_001164399.1	deleterious(0)		4/20		hmmpanther:PTHR35347																	MODERATE	1	SNV	5			1										PASS		rs17834244	.												A	3	1	70	59568246	59568246	C	A	1	0	0	0	0	1	0	0	0	2492	637	22	2		2	CCDC175	14	59568246	Missense_Mutation	SNP	C	C3N-01030_TP	1069327	59568246	47475472	594	22771											
PPM1A	0	.	GRCh38	chr14	60283463	60283463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaagagctctgtgattttGtaagatccagacttgaagtc	12	13	10	6	0	1	6	0	3	1	3	3	6	2	6	1	0	1	2	1	0	3	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.979G>T	p.Val327Leu	p.V327L	ENST00000325642	2/6	110	84	26	169	168	1	strelka-mutect	PPM1A,missense_variant,p.Val254Leu,ENST00000395076,NM_021003.4;PPM1A,missense_variant,p.Val254Leu,ENST00000325658,NM_177951.2;PPM1A,missense_variant,p.Val327Leu,ENST00000325642,NM_177952.2;PPM1A,downstream_gene_variant,,ENST00000525399,;PPM1A,downstream_gene_variant,,ENST00000531937,;PPM1A,downstream_gene_variant,,ENST00000528241,;PPM1A,3_prime_UTR_variant,,ENST00000531143,;PPM1A,intron_variant,,ENST00000532036,;	T	ENST00000325642	Transcript	missense_variant	1075/1713	979/1368	327/455	V/L	Gta/Tta		1		1	PPM1A	HGNC	HGNC:9275	protein_coding	YES	CCDS45120.1	ENSP00000327255	P35813		UPI0000E01530	NM_177952.2	deleterious(0.03)		2/6		PROSITE_profiles:PS51746,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF262,Pfam_domain:PF00481,Gene3D:3.60.40.10,SMART_domains:SM00332,Superfamily_domains:SSF81606																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	70	60283463	60283463	G	T	1	0	0	0	0	1	0	0	0	12445	1377	48	2		2	PPM1A	14	60283463	Missense_Mutation	SNP	G	C3N-01030_TP	715217	60283463	46760255	595	22772											
PLEKHG3	0	.	GRCh38	chr14	64741397	64741397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaggacagcaagtccaGtggctttgggagcccgcggc	9	5	16	11	2	0	0	0	0	0	0	1	3	1	3	2	5	2	2	2	5	1	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1880G>A	p.Ser627Asn	p.S627N	ENST00000247226	16/17	182	151	31	157	157	0	strelka-varscan-mutect	PLEKHG3,missense_variant,p.Ser627Asn,ENST00000247226,NM_001308147.1;PLEKHG3,missense_variant,p.Ser571Asn,ENST00000394691,NM_015549.1;PLEKHG3,missense_variant,p.Ser160Asn,ENST00000471182,;PLEKHG3,missense_variant,p.Ser132Asn,ENST00000484731,;PLEKHG3,missense_variant,p.Ser571Asn,ENST00000634379,;SPTB,downstream_gene_variant,,ENST00000556626,;SPTB,downstream_gene_variant,,ENST00000389722,NM_001024858.2;PLEKHG3,upstream_gene_variant,,ENST00000492928,;PLEKHG3,non_coding_transcript_exon_variant,,ENST00000490180,;	A	ENST00000247226	Transcript	missense_variant	2027/10351	1880/3660	627/1219	S/N	aGt/aAt		1		1	PLEKHG3	HGNC	HGNC:20364	protein_coding	YES	CCDS76690.1	ENSP00000247226	A1L390		UPI0000ECF248	NM_001308147.1	tolerated(0.48)		16/17																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	64741397	64741397	G	A	1	0	0	0	0	1	0	0	0	12163	1029	36	3		3	PLEKHG3	14	64741397	Missense_Mutation	SNP	G	C3N-01030_TP	4457934	64741397	42302321	596	22773											
FNTB	0	.	GRCh38	chr14	65040869	65040869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccttctgtggcctggccGcgctggtaatcctcaagagg	7	10	12	12	2	2	1	1	0	1	1	3	1	3	1	4	4	1	2	4	4	3	3	rs771996889		C3N-01030_TP	C3N-01030_NB	G	G																c.772G>A	p.Ala258Thr	p.A258T	ENST00000246166	8/12	161	151	10	159	159	0	strelka-varscan-mutect	FNTB,missense_variant,p.Ala258Thr,ENST00000246166,NM_001202558.1,NM_002028.3;CHURC1-FNTB,missense_variant,p.Ala292Thr,ENST00000549987,NM_001202559.1;MAX,intron_variant,,ENST00000341653,NM_197957.3;MIR4706,upstream_gene_variant,,ENST00000582134,;FNTB,downstream_gene_variant,,ENST00000556709,;CHURC1-FNTB,3_prime_UTR_variant,,ENST00000552941,;FNTB,non_coding_transcript_exon_variant,,ENST00000554334,;	A	ENST00000246166	Transcript	missense_variant	1006/2834	772/1314	258/437	A/T	Gcg/Acg	rs771996889,COSM4051904	1		1	FNTB	HGNC	HGNC:3785	protein_coding	YES	CCDS9769.1	ENSP00000246166	P49356		UPI0000111EF4	NM_001202558.1,NM_002028.3	tolerated(0.12)		8/12		hmmpanther:PTHR11774:SF6,hmmpanther:PTHR11774,Gene3D:1.50.10.20,Pfam_domain:PF00432,Superfamily_domains:SSF48239											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs771996889	.												A	3	1	70	65040869	65040869	G	A	1	0	0	0	0	1	0	0	0	5836	1087	38	1		1	FNTB	14	65040869	Missense_Mutation	SNP	G	C3N-01030_TP	299472	65040869	42002849	597	22774											
SMOC1	0	.	GRCh38	chr14	70023220	70023220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggttctcagagccagaccCcagccacaccctggaggagc	10	4	11	16	0	1	2	1	0	1	2	2	4	1	4	5	3	3	1	5	3	0	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1064C>A	p.Pro355His	p.P355H	ENST00000361956	11/12	283	248	35	246	246	0	strelka-varscan-mutect	SMOC1,missense_variant,p.Pro355His,ENST00000381280,NM_022137.5;SMOC1,missense_variant,p.Pro355His,ENST00000361956,NM_001034852.2;	A	ENST00000361956	Transcript	missense_variant	1327/2040	1064/1308	355/435	P/H	cCc/cAc		1		1	SMOC1	HGNC	HGNC:20318	protein_coding	YES	CCDS32110.1	ENSP00000355110	Q9H4F8		UPI0000071CCF	NM_001034852.2	deleterious(0)		11/12		hmmpanther:PTHR12352,hmmpanther:PTHR12352:SF13,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	70023220	70023220	C	A	1	0	0	0	0	1	0	0	0	15122	623	22	2		2	SMOC1	14	70023220	Missense_Mutation	SNP	C	C3N-01030_TP	4982351	70023220	37020498	598	22775											
LTBP2	0	.	GRCh38	chr14	74552988	74552988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgttggcacagtgtccacGggcacaggtctgcttgcaga	7	9	14	11	1	1	1	0	0	1	1	2	1	2	1	1	3	2	6	1	3	0	2	rs368186583		C3N-01030_TP	C3N-01030_NB	G	G																c.1096C>A	p.Arg366Ser	p.R366S	ENST00000261978	5/36	339	261	78	341	340	1	strelka-varscan-mutect	LTBP2,missense_variant,p.Arg366Ser,ENST00000261978,NM_000428.2;LTBP2,missense_variant,p.Arg366Ser,ENST00000556690,;CTD-2207P18.1,intron_variant,,ENST00000554552,;LTBP2,intron_variant,,ENST00000557425,;LTBP2,missense_variant,p.Arg366Ser,ENST00000553939,;	T	ENST00000261978	Transcript	missense_variant	1483/8567	1096/5466	366/1821	R/S	Cgt/Agt	rs368186583	1		-1	LTBP2	HGNC	HGNC:6715	protein_coding	YES	CCDS9831.1	ENSP00000261978	Q14767		UPI000013D239	NM_000428.2	tolerated(0.66)		5/36		hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF49																	MODERATE	1	SNV	1			1										PASS		rs368186583	.												T	3	4	70	74552988	74552988	G	T	1	0	0	0	0	1	0	0	0	8980	1116	39	1		1	LTBP2	14	74552988	Missense_Mutation	SNP	G	C3N-01030_TP	4529768	74552988	32490730	599	22776											
TSHR	0	.	GRCh38	chr14	81143562	81143562	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacggctggtttcttcactGtctttgcaagcgagttatcg	7	14	10	10	3	3	0	1	0	2	0	4	1	3	0	0	2	2	4	0	2	2	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1504G>C	p.Val502Leu	p.V502L	ENST00000541158	11/11	336	288	48	295	295	0	strelka-varscan-mutect	TSHR,missense_variant,p.Val502Leu,ENST00000541158,;TSHR,missense_variant,p.Val502Leu,ENST00000298171,NM_000369.2;RP11-114N19.3,intron_variant,,ENST00000557775,;TSHR,non_coding_transcript_exon_variant,,ENST00000636454,;TSHR,missense_variant,p.Val137Leu,ENST00000637447,;	C	ENST00000541158	Transcript	missense_variant	1826/4566	1504/2295	502/764	V/L	Gtc/Ctc		1		1	TSHR	HGNC	HGNC:12373	protein_coding	YES	CCDS9872.1	ENSP00000441235		A0A0A0MTJ0	UPI000013E4A2		deleterious(0)		11/11		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR00373,PROSITE_profiles:PS50262,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF0,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	70	81143562	81143562	G	C	1	0	0	0	0	1	0	0	0	17127	1377	48	4		4	TSHR	14	81143562	Missense_Mutation	SNP	G	C3N-01030_TP	6590574	81143562	25900156	600	22777											
TSHR	0	.	GRCh38	chr14	81143882	81143882	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaagatctacatcacagtCcgaaatccgcagtacaaccc	14	7	7	13	2	2	2	1	1	1	1	4	3	4	2	3	0	3	2	3	0	5	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1824C>A	p.=	p.V608V	ENST00000541158	11/11	339	247	92	359	358	1	strelka-varscan-mutect	TSHR,synonymous_variant,p.=,ENST00000541158,;TSHR,synonymous_variant,p.=,ENST00000298171,NM_000369.2;RP11-114N19.3,intron_variant,,ENST00000557775,;TSHR,downstream_gene_variant,,ENST00000636454,;TSHR,synonymous_variant,p.=,ENST00000637447,;	A	ENST00000541158	Transcript	synonymous_variant	2146/4566	1824/2295	608/764	V	gtC/gtA		1		1	TSHR	HGNC	HGNC:12373	protein_coding	YES	CCDS9872.1	ENSP00000441235		A0A0A0MTJ0	UPI000013E4A2				11/11		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF0,Superfamily_domains:SSF81321																	LOW		SNV	5			1										PASS		.	.												A	2	1	70	81143882	81143882	C	A	1	0	0	0	0	0	0	0	1	17127	842	30	2		2	TSHR	14	81143882	Silent	SNP	C	C3N-01030_TP	320	81143882	25899836	601	22778											
STON2	0	.	GRCh38	chr14	81371144	81371144	+	Frame_Shift_Del	DEL	C	C	-																															agggcatctccccagggagtCaaaggaagggcatgtccagc																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.415delG	p.Asp139ThrfsTer8	p.D139Tfs*8	ENST00000555447	5/8	183	124	59	207	207	0	sindel-varindel-pindel	STON2,frameshift_variant,p.Asp139ThrfsTer8,ENST00000555447,NM_001256430.1;STON2,frameshift_variant,p.Asp139ThrfsTer8,ENST00000267540,NM_033104.3;STON2,frameshift_variant,p.Asp139ThrfsTer8,ENST00000614646,;	-	ENST00000555447	Transcript	frameshift_variant	828/4302	415/2763	139/920	D/X	Gac/ac		1		-1	STON2	HGNC	HGNC:30652	protein_coding	YES	CCDS58332.1	ENSP00000450857	Q8WXE9		UPI00001FD96B	NM_001256430.1			5/8		PIRSF_domain:PIRSF037099,Pfam_domain:PF12016																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	70	81371144	81371144	C	-	1	0	1	0	1	0	0	0	0	15696	826	29	0		0	STON2	14	81371144	Frame_Shift_Del	DEL	C	C3N-01030_TP	227262	81371144	25672574	602	22779											
SERPINA11	0	.	GRCh38	chr14	94442725	94442725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctgacatggtgttcaGagatgggggctgggagagga	8	9	20	4	0	2	3	1	1	1	2	2	6	2	4	0	6	0	2	0	6	0	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1150C>A	p.Leu384Met	p.L384M	ENST00000334708	5/5	119	104	15	94	94	0	strelka-varscan-mutect	SERPINA11,missense_variant,p.Leu384Met,ENST00000334708,NM_001080451.1;RP11-349I1.2,intron_variant,,ENST00000536735,;	T	ENST00000334708	Transcript	missense_variant	1215/1476	1150/1269	384/422	L/M	Ctg/Atg		1		-1	SERPINA11	HGNC	HGNC:19193	protein_coding	YES	CCDS32149.1	ENSP00000335024	Q86U17		UPI000015DA3A	NM_001080451.1	tolerated(0.12)		5/5		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF154,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	94442725	94442725	G	T	1	0	0	0	0	1	0	0	0	14364	933	33	2		2	SERPINA11	14	94442725	Missense_Mutation	SNP	G	C3N-01030_TP	13071581	94442725	12600993	603	22780											
MAGEL2	0	.	GRCh38	chr15	23644986	23644986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttggacctcccagtcactCagatttagattctcccaggg	8	12	8	13	0	3	2	2	0	1	2	5	3	4	3	3	2	0	0	3	2	1	4			C3N-01030_TP	C3N-01030_NB	C	C																c.2757G>A	p.=	p.L919L	ENST00000532292	1/1	87	69	18	127	127	0	strelka-varscan-mutect	MAGEL2,synonymous_variant,p.=,ENST00000532292,NM_019066.4;	T	ENST00000532292	Transcript	synonymous_variant	2856/4298	2757/3750	919/1249	L	ctG/ctA	COSM1147461	1		-1	MAGEL2	HGNC	HGNC:6814	protein_coding	YES	CCDS73700.1	ENSP00000433433	Q9UJ55		UPI0001B3CB28	NM_019066.4			1/1		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	70	23644986	23644986	C	T	1	0	0	0	0	0	0	0	1	9107	813	29	3		3	MAGEL2	15	23644986	Silent	SNP	C	C3N-01030_TP		23644986	78346203	604	22781											
NPAP1	0	.	GRCh38	chr15	24677045	24677045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagaccatgacaaacagcaGcatcacccagcctgcccctt	13	5	7	16	0	1	2	1	1	0	1	1	3	1	2	5	0	5	2	5	0	1	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1178G>T	p.Ser393Ile	p.S393I	ENST00000329468	1/1	157	111	46	290	290	0	strelka-varscan-mutect	NPAP1,missense_variant,p.Ser393Ile,ENST00000329468,NM_018958.2;	T	ENST00000329468	Transcript	missense_variant	1178/7526	1178/3471	393/1156	S/I	aGc/aTc		1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2	deleterious(0.02)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	70	24677045	24677045	G	T	1	0	0	0	0	1	0	0	0	10609	971	34	2		2	NPAP1	15	24677045	Missense_Mutation	SNP	G	C3N-01030_TP	1032059	24677045	77314144	605	22782											
OCA2	0	.	GRCh38	chr15	27957679	27957679	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagctgtctcctcgcggcTggccgggctgatgcgctgag	4	8	15	14	4	1	2	0	2	1	0	3	2	1	2	2	3	2	4	2	3	0	0	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.1693A>T	p.Ser565Cys	p.S565C	ENST00000354638	16/24	389	252	137	331	331	0	strelka-varscan-mutect	OCA2,missense_variant,p.Ser565Cys,ENST00000354638,NM_000275.2;OCA2,missense_variant,p.Ser541Cys,ENST00000353809,NM_001300984.1;	A	ENST00000354638	Transcript	missense_variant	1849/3186	1693/2517	565/838	S/C	Agc/Tgc		1		-1	OCA2	HGNC	HGNC:8101	protein_coding	YES	CCDS10020.1	ENSP00000346659	Q04671		UPI000013D158	NM_000275.2	deleterious(0)		16/24		hmmpanther:PTHR10283:SF67,hmmpanther:PTHR10283,Pfam_domain:PF03600																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	27957679	27957679	T	A	1	0	0	0	0	1	0	0	0	10892	1580	55	4		4	OCA2	15	27957679	Missense_Mutation	SNP	T	C3N-01030_TP	3280634	27957679	74033510	606	22783											
FAN1	0	.	GRCh38	chr15	30905273	30905273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaattgaggacgaggatCaaattttggagaacagttct	15	10	11	5	1	2	3	1	1	1	2	2	7	2	5	0	3	1	1	0	3	3	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.610C>A	p.Gln204Lys	p.Q204K	ENST00000362065	2/15	102	88	14	147	147	0	strelka-varscan-mutect	FAN1,missense_variant,p.Gln204Lys,ENST00000362065,NM_014967.4;FAN1,missense_variant,p.Gln204Lys,ENST00000561594,NM_001146095.1;FAN1,missense_variant,p.Gln204Lys,ENST00000561607,NM_001146094.1,NM_001146096.1;FAN1,missense_variant,p.Gln204Lys,ENST00000565466,;FAN1,intron_variant,,ENST00000562892,;FAN1,missense_variant,p.Gln204Lys,ENST00000565280,;RP11-540B6.3,downstream_gene_variant,,ENST00000565492,;	A	ENST00000362065	Transcript	missense_variant	901/4891	610/3054	204/1017	Q/K	Caa/Aaa		1		1	FAN1	HGNC	HGNC:29170	protein_coding	YES	CCDS32186.1	ENSP00000354497	Q9Y2M0		UPI000006D713	NM_014967.4	tolerated(0.57)		2/15		hmmpanther:PTHR15749:SF4,hmmpanther:PTHR15749																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	30905273	30905273	C	A	1	0	0	0	0	1	0	0	0	5520	827	29	2		2	FAN1	15	30905273	Missense_Mutation	SNP	C	C3N-01030_TP	2947594	30905273	71085916	607	22784											
RYR3	0	.	GRCh38	chr15	33613277	33613277	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacctcggggtgcccagcatCtcattccgcatcaatgggca	8	8	11	14	2	2	0	2	0	1	0	5	1	3	0	3	3	2	3	3	3	1	1	rs759252909		C3N-01030_TP	C3N-01030_NB	C	C																c.2259C>G	p.Ile753Met	p.I753M	ENST00000634891	19/104	155	109	46	169	169	0	strelka-mutect	RYR3,missense_variant,p.Ile753Met,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Ile753Met,ENST00000622037,;RYR3,missense_variant,p.Ile753Met,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Ile753Met,ENST00000389232,;RYR3,missense_variant,p.Ile753Met,ENST00000634418,;	G	ENST00000634891	Transcript	missense_variant	2360/15591	2259/14613	753/4870	I/M	atC/atG	rs759252909,COSM4478675	1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	tolerated(0.15)		19/104		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16,SMART_domains:SM00449,Superfamily_domains:SSF49899											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs759252909	.												G	3	3	70	33613277	33613277	C	G	1	0	0	0	0	1	0	0	0	14030	903	32	4		4	RYR3	15	33613277	Missense_Mutation	SNP	C	C3N-01030_TP	2708004	33613277	68377912	608	22785											
PLCB2	0	.	GRCh38	chr15	40299153	40299153	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagatctcatctatttCtggccgaggacagaggctca	11	10	11	9	1	4	3	2	1	3	2	5	5	4	4	1	3	0	1	1	3	2	2	rs752312361		C3N-01030_TP	C3N-01030_NB	C	C																c.658G>T	p.Glu220Ter	p.E220*	ENST00000260402	8/32	81	57	24	112	112	0	strelka-varscan-mutect	PLCB2,stop_gained,p.Glu220Ter,ENST00000260402,NM_004573.2;PLCB2,stop_gained,p.Glu220Ter,ENST00000557821,NM_001284297.1;PLCB2,stop_gained,p.Glu220Ter,ENST00000456256,NM_001284298.1;PLCB2,downstream_gene_variant,,ENST00000543785,NM_001284299.1;PLCB2-AS1,upstream_gene_variant,,ENST00000559520,;PLCB2,non_coding_transcript_exon_variant,,ENST00000558588,;PLCB2,non_coding_transcript_exon_variant,,ENST00000560093,;PLCB2,downstream_gene_variant,,ENST00000559634,;PLCB2,upstream_gene_variant,,ENST00000558409,;	A	ENST00000260402	Transcript	stop_gained	908/4616	658/3558	220/1185	E/*	Gaa/Taa	rs752312361,COSM1678359,COSM1678360	1		-1	PLCB2	HGNC	HGNC:9055	protein_coding	YES	CCDS42020.1	ENSP00000260402	Q00722		UPI0000D79B75	NM_004573.2			8/32		hmmpanther:PTHR10336:SF10,hmmpanther:PTHR10336,PIRSF_domain:PIRSF000956,Gene3D:1.10.238.10,Pfam_domain:PF09279,Superfamily_domains:SSF47473											0,1,1						HIGH	1	SNV	2		0,1,1	1										PASS		rs752312361	.												A	4	1	70	40299153	40299153	C	A	1	0	0	0	0	0	1	0	0	12122	922	32	2		2	PLCB2	15	40299153	Nonsense_Mutation	SNP	C	C3N-01030_TP	6685876	40299153	61692036	609	22786											
DNAJC17	0	.	GRCh38	chr15	40775057	40775057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagccgtaggaggacgtCtttggagtagccaccttttg	10	10	12	9	2	1	0	0	0	1	0	1	3	1	3	3	3	2	2	3	3	4	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.574G>T	p.Asp192Tyr	p.D192Y	ENST00000220496	8/11	149	96	53	162	162	0	strelka-varscan-mutect	DNAJC17,missense_variant,p.Asp192Tyr,ENST00000220496,NM_018163.2;C15orf62,downstream_gene_variant,,ENST00000344320,NM_001130448.2;DNAJC17,downstream_gene_variant,,ENST00000627802,;DNAJC17,upstream_gene_variant,,ENST00000558727,;DNAJC17,downstream_gene_variant,,ENST00000561044,;DNAJC17,3_prime_UTR_variant,,ENST00000559238,;DNAJC17,3_prime_UTR_variant,,ENST00000560645,;DNAJC17,3_prime_UTR_variant,,ENST00000561018,;DNAJC17,3_prime_UTR_variant,,ENST00000559310,;DNAJC17,3_prime_UTR_variant,,ENST00000560065,;DNAJC17,non_coding_transcript_exon_variant,,ENST00000561110,;DNAJC17,downstream_gene_variant,,ENST00000560301,;DNAJC17,downstream_gene_variant,,ENST00000558769,;	A	ENST00000220496	Transcript	missense_variant	605/3731	574/915	192/304	D/Y	Gac/Tac		1		-1	DNAJC17	HGNC	HGNC:25556	protein_coding	YES	CCDS10065.1	ENSP00000220496	Q9NVM6		UPI00000375AE	NM_018163.2	deleterious(0)		8/11		Gene3D:3.30.70.330,Pfam_domain:PF00076,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	40775057	40775057	C	A	1	0	0	0	0	1	0	0	0	4450	913	32	2		2	DNAJC17	15	40775057	Missense_Mutation	SNP	C	C3N-01030_TP	475904	40775057	61216132	610	22787											
ATP8B4	0	.	GRCh38	chr15	49931210	49931210	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaattcttctattgttatGgtctctggggtccgggattt	5	17	10	9	1	3	0	0	0	3	0	5	1	4	1	2	4	0	1	2	4	3	6	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1551C>A	p.=	p.T517T	ENST00000284509	16/28	157	115	42	194	194	0	strelka-varscan-mutect	ATP8B4,synonymous_variant,p.=,ENST00000284509,NM_024837.3;ATP8B4,synonymous_variant,p.=,ENST00000559829,;ATP8B4,synonymous_variant,p.=,ENST00000557955,;ATP8B4,synonymous_variant,p.=,ENST00000558458,;ATP8B4,3_prime_UTR_variant,,ENST00000559726,;ATP8B4,intron_variant,,ENST00000558906,;	T	ENST00000284509	Transcript	synonymous_variant	1693/5676	1551/3579	517/1192	T	acC/acA		1		-1	ATP8B4	HGNC	HGNC:13536	protein_coding	YES	CCDS32238.1	ENSP00000284509	Q8TF62		UPI0000055904	NM_024837.3			16/28		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF80,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01652,Pfam_domain:PF13246,Superfamily_domains:SSF81660																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	70	49931210	49931210	G	T	1	0	0	0	0	0	0	0	1	1350	1335	47	2		2	ATP8B4	15	49931210	Silent	SNP	G	C3N-01030_TP	9156153	49931210	52059979	611	22788											
DMXL2	0	.	GRCh38	chr15	51499189	51499189	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgagttggatgatattgTggaagagtaggggaaagtac	13	10	16	2	0	0	3	0	2	0	1	0	6	0	6	0	4	2	4	0	4	5	5	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.4035A>T	p.=	p.P1345P	ENST00000543779	18/43	78	55	23	149	149	0	strelka-varscan-mutect	DMXL2,synonymous_variant,p.=,ENST00000251076,NM_015263.3;DMXL2,synonymous_variant,p.=,ENST00000543779,NM_001174116.1;DMXL2,intron_variant,,ENST00000449909,NM_001174117.1;RP11-707P17.1,downstream_gene_variant,,ENST00000561007,;	A	ENST00000543779	Transcript	synonymous_variant	4125/10400	4035/9114	1345/3037	P	ccA/ccT		1		-1	DMXL2	HGNC	HGNC:2938	protein_coding	YES	CCDS53946.1	ENSP00000441858	Q8TDJ6		UPI00001FE4C2	NM_001174116.1			18/43		Pfam_domain:PF12234,hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF11																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	51499189	51499189	T	A	1	0	0	0	0	0	0	0	1	4404	1683	59	4		4	DMXL2	15	51499189	Silent	SNP	T	C3N-01030_TP	1567979	51499189	50492000	612	22789											
MYO5C	0	.	GRCh38	chr15	52271846	52271846	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttcgttcattttccgacTgtaagataaagaaatgtcct	13	15	6	7	2	1	2	1	0	0	2	4	3	3	2	2	0	0	2	2	0	5	6			C3N-01030_TP	C3N-01030_NB	T	T																c.751-2A>T		p.X251_splice	ENST00000261839		30	19	11	44	44	0	strelka-varscan-mutect	MYO5C,splice_acceptor_variant,,ENST00000261839,NM_018728.3;MYO5C,downstream_gene_variant,,ENST00000558479,;MYO5C,intron_variant,,ENST00000541028,;MYO5C,splice_acceptor_variant,,ENST00000558902,;MYO5C,splice_acceptor_variant,,ENST00000559459,;MYO5C,intron_variant,,ENST00000560809,;	A	ENST00000261839	Transcript	splice_acceptor_variant	-/6971	751/5229	251/1742			COSM4779875	1		-1	MYO5C	HGNC	HGNC:7604	protein_coding	YES	CCDS42036.1	ENSP00000261839	Q9NQX4		UPI000013D20E	NM_018728.3				6/40												1						HIGH	1	SNV	1		1	1										PASS		rs1185303699	.												A	5	1	70	52271846	52271846	T	A	1	0	0	0	0	0	0	1	0	10081	1594	55	4		4	MYO5C	15	52271846	Splice_Site	SNP	T	C3N-01030_TP	772657	52271846	49719343	613	22790											
CCDC33	0	.	GRCh38	chr15	74244027	74244027	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatcgcctcccagagcAcggaacctgagatcggtcac	9	6	10	16	3	1	3	1	2	0	2	4	5	2	4	4	2	2	1	4	2	1	0	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.64A>T	p.Thr22Ser	p.T22S	ENST00000398814	2/19	55	43	12	76	76	0	strelka-varscan-mutect	CCDC33,missense_variant,p.Thr22Ser,ENST00000398814,NM_025055.4;CCDC33,missense_variant,p.Thr240Ser,ENST00000635913,;	T	ENST00000398814	Transcript	missense_variant	495/2787	64/2268	22/755	T/S	Acg/Tcg		1		1	CCDC33	HGNC	HGNC:26552	protein_coding	YES	CCDS42058.1	ENSP00000381795	Q8N5R6		UPI0000E671FE	NM_025055.4	tolerated(0.21)		2/19		hmmpanther:PTHR21623,hmmpanther:PTHR21623:SF3																	MODERATE	1	SNV	2			1										PASS		rs1424443692	.												T	3	4	70	74244027	74244027	A	T	1	0	0	0	0	1	0	0	0	2516	159	6	4		4	CCDC33	15	74244027	Missense_Mutation	SNP	A	C3N-01030_TP	21972181	74244027	27747162	614	22791											
SEMA7A	0	.	GRCh38	chr15	74411921	74411921	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatggtctggatggcagcCgcgcggcggaagggctggat	7	6	19	9	4	1	0	0	0	1	0	1	4	1	3	1	7	1	2	1	7	1	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1386G>T	p.=	p.A462A	ENST00000261918	11/14	170	126	44	162	160	2	strelka-varscan-mutect	SEMA7A,synonymous_variant,p.=,ENST00000261918,NM_003612.3;SEMA7A,synonymous_variant,p.=,ENST00000542748,NM_001146030.1;SEMA7A,synonymous_variant,p.=,ENST00000543145,NM_001146029.1;SEMA7A,downstream_gene_variant,,ENST00000567345,;MIR6881,upstream_gene_variant,,ENST00000616450,;SEMA7A,upstream_gene_variant,,ENST00000569617,;	A	ENST00000261918	Transcript	synonymous_variant	1935/3885	1386/2001	462/666	A	gcG/gcT		1		-1	SEMA7A	HGNC	HGNC:10741	protein_coding	YES	CCDS10262.1	ENSP00000261918	O75326		UPI00000312F0	NM_003612.3			11/14		PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF80,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912																	LOW	1	SNV	1			1										PASS		rs1412913730	.												A	2	1	70	74411921	74411921	C	A	1	0	0	0	0	0	0	0	1	14319	639	23	1		1	SEMA7A	15	74411921	Silent	SNP	C	C3N-01030_TP	167894	74411921	27579268	615	22792											
MAN2C1	0	.	GRCh38	chr15	75356804	75356804	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccacttacagcgagaggctGaggatgctgcctcgcactga	9	7	12	13	2	0	3	0	2	0	1	1	5	0	4	2	2	4	3	2	2	1	1	rs752020927		C3N-01030_TP	C3N-01030_NB	G	G																c.2697C>G	p.=	p.L899L	ENST00000565683	22/26	124	104	20	147	147	0	strelka-varscan-mutect	MAN2C1,synonymous_variant,p.=,ENST00000565683,NM_001256494.1;MAN2C1,synonymous_variant,p.=,ENST00000267978,NM_006715.3;MAN2C1,synonymous_variant,p.=,ENST00000569482,NM_001256495.1;MAN2C1,synonymous_variant,p.=,ENST00000563622,NM_001256496.1;MAN2C1,synonymous_variant,p.=,ENST00000618257,;NEIL1,3_prime_UTR_variant,,ENST00000355059,NM_024608.3;NEIL1,downstream_gene_variant,,ENST00000564784,;NEIL1,downstream_gene_variant,,ENST00000569035,NM_001256552.1;NEIL1,downstream_gene_variant,,ENST00000565051,;NEIL1,downstream_gene_variant,,ENST00000567657,;NEIL1,downstream_gene_variant,,ENST00000567005,;MAN2C1,upstream_gene_variant,,ENST00000384904,;NEIL1,downstream_gene_variant,,ENST00000567959,;MAN2C1,downstream_gene_variant,,ENST00000566253,;MAN2C1,upstream_gene_variant,,ENST00000631426,;MAN2C1,upstream_gene_variant,,ENST00000563660,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000567163,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000566099,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000561693,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000564929,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000566569,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000564570,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000562067,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563528,;MAN2C1,downstream_gene_variant,,ENST00000564785,;NEIL1,downstream_gene_variant,,ENST00000561643,;MAN2C1,downstream_gene_variant,,ENST00000563441,;MAN2C1,downstream_gene_variant,,ENST00000566634,;NEIL1,downstream_gene_variant,,ENST00000567393,;NEIL1,downstream_gene_variant,,ENST00000565121,;MAN2C1,downstream_gene_variant,,ENST00000421803,;MAN2C1,downstream_gene_variant,,ENST00000570257,;MAN2C1,downstream_gene_variant,,ENST00000569176,;MAN2C1,downstream_gene_variant,,ENST00000563013,;MAN2C1,downstream_gene_variant,,ENST00000563794,;MAN2C1,downstream_gene_variant,,ENST00000566013,;NEIL1,downstream_gene_variant,,ENST00000568519,;MAN2C1,downstream_gene_variant,,ENST00000563368,;MAN2C1,downstream_gene_variant,,ENST00000562228,;NEIL1,downstream_gene_variant,,ENST00000567547,;MAN2C1,downstream_gene_variant,,ENST00000563596,;NEIL1,downstream_gene_variant,,ENST00000564738,;MAN2C1,downstream_gene_variant,,ENST00000563058,;MAN2C1,downstream_gene_variant,,ENST00000562461,;MAN2C1,downstream_gene_variant,,ENST00000568944,;MAN2C1,downstream_gene_variant,,ENST00000565953,;NEIL1,downstream_gene_variant,,ENST00000569758,;MAN2C1,downstream_gene_variant,,ENST00000567360,;	C	ENST00000565683	Transcript	synonymous_variant	2709/3300	2697/3174	899/1057	L	ctC/ctG	rs752020927	1		-1	MAN2C1	HGNC	HGNC:6827	protein_coding	YES	CCDS58391.1	ENSP00000457788	Q9NTJ4		UPI0000229CBC	NM_001256494.1			22/26		hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF15,Pfam_domain:PF07748,Superfamily_domains:SSF74650																	LOW	1	SNV	1			1										PASS		rs752020927	.												C	2	2	70	75356804	75356804	G	C	1	0	0	0	0	0	0	0	1	9139	1277	45	4		4	MAN2C1	15	75356804	Silent	SNP	G	C3N-01030_TP	944883	75356804	26634385	616	22793											
ISL2	0	.	GRCh38	chr15	76338486	76338486	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcagccccggcccgctTcccggcgcccgcggcctgca	2	3	13	23	8	0	0	0	0	0	0	1	0	1	0	7	3	2	3	7	3	0	1	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.483T>C	p.=	p.L161L	ENST00000290759	3/6	44	39	5	72	71	1	strelka-mutect	ISL2,synonymous_variant,p.=,ENST00000290759,NM_145805.2;RP11-685G9.2,downstream_gene_variant,,ENST00000559539,;ISL2,non_coding_transcript_exon_variant,,ENST00000558437,;ISL2,intron_variant,,ENST00000558656,;	C	ENST00000290759	Transcript	synonymous_variant	643/1881	483/1080	161/359	L	ctT/ctC		1		1	ISL2	HGNC	HGNC:18524	protein_coding	YES	CCDS10290.1	ENSP00000290759	Q96A47		UPI000012D8FC	NM_145805.2			3/6		hmmpanther:PTHR24204:SF2,hmmpanther:PTHR24204																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	70	76338486	76338486	T	C	1	0	0	0	0	0	0	0	1	7764	1770	62	5		5	ISL2	15	76338486	Silent	SNP	T	C3N-01030_TP	981682	76338486	25652703	617	22794											
FSD2	0	.	GRCh38	chr15	82759426	82759426	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttccaaagaaaaacaGggatgcacaaattcgtgaag	16	8	10	7	1	0	2	0	1	0	1	2	3	1	3	1	2	2	2	1	2	5	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2172C>A	p.=	p.P724P	ENST00000334574	13/13	166	113	53	278	277	1	strelka-varscan-mutect	FSD2,synonymous_variant,p.=,ENST00000334574,NM_001007122.3;FSD2,synonymous_variant,p.=,ENST00000541889,NM_001281806.1,NM_001281805.1;SCARNA15,downstream_gene_variant,,ENST00000516881,;SNHG21,downstream_gene_variant,,ENST00000561107,;SNHG21,downstream_gene_variant,,ENST00000558174,;SNHG21,downstream_gene_variant,,ENST00000559366,;SNHG21,downstream_gene_variant,,ENST00000544685,;SNHG21,downstream_gene_variant,,ENST00000558687,;SCARNA15,downstream_gene_variant,,ENST00000607520,;	T	ENST00000334574	Transcript	synonymous_variant	2354/6418	2172/2250	724/749	P	ccC/ccA		1		-1	FSD2	HGNC	HGNC:18024	protein_coding	YES	CCDS45332.1	ENSP00000335651	A1L4K1		UPI0000161097	NM_001007122.3			13/13		PROSITE_profiles:PS50188,hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF6,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		rs1289166488	.												T	2	4	70	82759426	82759426	G	T	1	0	0	0	0	0	0	0	1	5945	987	35	2		2	FSD2	15	82759426	Silent	SNP	G	C3N-01030_TP	6420940	82759426	19231763	618	22795											
WHAMM	0	.	GRCh38	chr15	82826413	82826413	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtattattccaccaggatCagtgcaaagaaaatcatcgg	14	11	8	8	1	2	1	2	0	0	1	4	2	3	2	2	2	1	2	2	2	5	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1462C>T	p.Gln488Ter	p.Q488*	ENST00000286760	7/10	114	71	43	138	138	0	strelka-varscan-mutect	WHAMM,stop_gained,p.Gln488Ter,ENST00000286760,NM_001080435.2;WHAMM,non_coding_transcript_exon_variant,,ENST00000560964,;	T	ENST00000286760	Transcript	stop_gained	1561/5101	1462/2430	488/809	Q/*	Cag/Tag		1		1	WHAMM	HGNC	HGNC:30493	protein_coding	YES	CCDS45333.1	ENSP00000286760	Q8TF30		UPI00001C1F94	NM_001080435.2			7/10		hmmpanther:PTHR23330,hmmpanther:PTHR23330:SF6																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	70	82826413	82826413	C	T	1	0	0	0	0	0	1	0	0	17918	840	29	3		3	WHAMM	15	82826413	Nonsense_Mutation	SNP	C	C3N-01030_TP	66987	82826413	19164776	619	22796											
NTRK3	0	.	GRCh38	chr15	87933079	87933079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagggggtccccatcgcCgcacactccatagaacttga	10	7	11	13	2	0	3	0	2	0	1	3	4	2	3	4	2	1	1	4	2	2	2	rs760692815		C3N-01030_TP	C3N-01030_NB	C	C																c.1822G>T	p.Gly608Cys	p.G608C	ENST00000360948	16/20	214	166	48	313	313	0	strelka-varscan-mutect	NTRK3,missense_variant,p.Gly608Cys,ENST00000394480,NM_002530.3;NTRK3,missense_variant,p.Gly600Cys,ENST00000558676,;NTRK3,missense_variant,p.Gly608Cys,ENST00000360948,NM_001012338.2;NTRK3,missense_variant,p.Gly600Cys,ENST00000357724,;NTRK3,missense_variant,p.Gly600Cys,ENST00000355254,NM_001243101.1;NTRK3,missense_variant,p.Gly608Cys,ENST00000626019,;NTRK3,missense_variant,p.Gly608Cys,ENST00000629765,;NTRK3,missense_variant,p.Gly600Cys,ENST00000557856,;NTRK3,missense_variant,p.Gly510Cys,ENST00000542733,NM_001320135.1;NTRK3,missense_variant,p.Gly5Cys,ENST00000558576,;NTRK3,non_coding_transcript_exon_variant,,ENST00000559680,;	A	ENST00000360948	Transcript	missense_variant	2128/3004	1822/2520	608/839	G/C	Ggc/Tgc	rs760692815,COSM1517967,COSM1517968,COSM4708559,COSM88799	1		-1	NTRK3	HGNC	HGNC:8033	protein_coding	YES	CCDS32322.1	ENSP00000354207	Q16288	X5D2R1	UPI000006DC82	NM_001012338.2	deleterious(0.01)		16/20		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF66,SMART_domains:SM00219,Superfamily_domains:SSF56112											0,1,1,1,1						MODERATE	1	SNV	5		0,1,1,1,1	1										PASS		rs760692815	.												A	3	1	70	87933079	87933079	C	A	1	0	0	0	0	1	0	0	0	10774	652	23	1		1	NTRK3	15	87933079	Missense_Mutation	SNP	C	C3N-01030_TP	5106666	87933079	14058110	620	22797											
ACAN	0	.	GRCh38	chr15	88871389	88871389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgttgcagaccaggaGgtatgtgaggagggctggaa	10	8	17	6	0	0	2	0	1	0	1	0	5	0	5	2	5	1	4	2	5	2	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.6954G>T	p.Glu2318Asp	p.E2318D	ENST00000439576	14/18	145	102	43	176	174	2	strelka-varscan-mutect	ACAN,missense_variant,p.Glu2318Asp,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Glu2261Asp,ENST00000617301,;ACAN,missense_variant,p.Glu2280Asp,ENST00000559004,;ACAN,missense_variant,p.Glu2318Asp,ENST00000561243,;ACAN,missense_variant,p.Glu2280Asp,ENST00000352105,NM_001135.3;ACAN,missense_variant,p.Glu193Asp,ENST00000560601,;ACAN,upstream_gene_variant,,ENST00000558704,;ACAN,upstream_gene_variant,,ENST00000558604,;	T	ENST00000439576	Transcript	missense_variant	7328/8840	6954/7593	2318/2530	E/D	gaG/gaT		1		1	ACAN	HGNC	HGNC:319	protein_coding	YES	CCDS53970.1	ENSP00000387356		E7EX88	UPI0001B23381	NM_013227.3	tolerated(0.18)		14/18		hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804,Gene3D:3.10.100.10,Superfamily_domains:SSF56436																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	88871389	88871389	G	T	1	0	0	0	0	1	0	0	0	160	991	35	2		2	ACAN	15	88871389	Missense_Mutation	SNP	G	C3N-01030_TP	938310	88871389	13119800	621	22798											
CLCN7	0	.	GRCh38	chr16	1451660	1451660	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcaccacgctcttctcCggggtgttgaagaaggccgc	7	8	13	13	3	3	2	1	1	2	1	4	2	3	2	3	4	0	3	3	4	2	2	rs751240482		C3N-01030_TP	C3N-01030_NB	C	C																c.1410G>T	p.=	p.P470P	ENST00000382745	16/25	251	232	19	213	213	0	strelka-varscan-mutect	CLCN7,synonymous_variant,p.=,ENST00000382745,NM_001287.5;CLCN7,synonymous_variant,p.=,ENST00000448525,NM_001114331.2;CLCN7,synonymous_variant,p.=,ENST00000262318,;LA16c-390E6.4,upstream_gene_variant,,ENST00000563610,;CLCN7,non_coding_transcript_exon_variant,,ENST00000563642,;CLCN7,upstream_gene_variant,,ENST00000565092,;CLCN7,downstream_gene_variant,,ENST00000563822,;CLCN7,upstream_gene_variant,,ENST00000567836,;CLCN7,upstream_gene_variant,,ENST00000567789,;	A	ENST00000382745	Transcript	synonymous_variant	2016/4720	1410/2418	470/805	P	ccG/ccT	rs751240482	1		-1	CLCN7	HGNC	HGNC:2025	protein_coding	YES	CCDS32361.1	ENSP00000372193	P51798		UPI000004904C	NM_001287.5			16/25		Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF92,Superfamily_domains:SSF81340																	LOW	1	SNV	1			1										PASS		rs751240482	.												A	2	1	70	1451660	1451660	C	A	1	0	0	0	0	0	0	0	1	3232	639	23	1		1	CLCN7	16	1451660	Silent	SNP	C	C3N-01030_TP		1451660	88886685	622	22799											
HS3ST6	0	.	GRCh38	chr16	1911904	1911904	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaagtgggacagggggaAgtagcgcagccagtggtcca	11	4	18	8	1	0	0	0	0	0	0	1	3	1	3	2	5	2	2	2	5	3	1	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.715T>C	p.Phe239Leu	p.F239L	ENST00000454677	2/2	51	44	7	61	61	0	strelka-varscan-mutect	HS3ST6,missense_variant,p.Phe239Leu,ENST00000454677,NM_001009606.3;	G	ENST00000454677	Transcript	missense_variant	832/1273	715/1029	239/342	F/L	Ttc/Ctc		1		-1	HS3ST6	HGNC	HGNC:14178	protein_coding	YES		ENSP00000416741	Q96QI5	J3KR40	UPI00004E18B8	NM_001009606.3	deleterious(0)		2/2		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF41,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	70	1911904	1911904	A	G	1	0	0	0	0	1	0	0	0	7263	72	3	5		5	HS3ST6	16	1911904	Missense_Mutation	SNP	A	C3N-01030_TP	460244	1911904	88426441	623	22800											
HCFC1R1	0	.	GRCh38	chr16	3023254	3023254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgagtgggggcagggctgggGagaaggtcatgggggggctg	6	6	25	4	0	1	2	1	1	0	1	1	3	1	2	0	9	0	3	0	9	1	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.260C>T	p.Ser87Phe	p.S87F	ENST00000248089	3/4	31	20	11	21	21	0	strelka-varscan-mutect	HCFC1R1,missense_variant,p.Ser87Phe,ENST00000248089,NM_001002018.2,NM_017885.3;HCFC1R1,missense_variant,p.Ser87Phe,ENST00000574980,NM_001288665.1;HCFC1R1,missense_variant,p.Ser85Phe,ENST00000354679,NM_001288667.1;HCFC1R1,missense_variant,p.Ser68Phe,ENST00000574151,NM_001288666.1,NM_001002017.2;HCFC1R1,missense_variant,p.Ser47Phe,ENST00000572355,NM_001308070.1;HCFC1R1,missense_variant,p.Ser87Phe,ENST00000573842,;BICDL2,downstream_gene_variant,,ENST00000573514,;BICDL2,downstream_gene_variant,,ENST00000572449,;BICDL2,downstream_gene_variant,,ENST00000389347,NM_001103175.1;CLDN6,upstream_gene_variant,,ENST00000396925,;THOC6,upstream_gene_variant,,ENST00000326266,NM_024339.3;THOC6,upstream_gene_variant,,ENST00000575576,;THOC6,upstream_gene_variant,,ENST00000574549,;THOC6,upstream_gene_variant,,ENST00000253952,NM_001142350.1;TNFRSF12A,downstream_gene_variant,,ENST00000575124,;TNFRSF12A,downstream_gene_variant,,ENST00000326577,NM_016639.2;TNFRSF12A,downstream_gene_variant,,ENST00000341627,;TNFRSF12A,downstream_gene_variant,,ENST00000573001,;TNFRSF12A,downstream_gene_variant,,ENST00000575836,;HCFC1R1,non_coding_transcript_exon_variant,,ENST00000575214,;HCFC1R1,non_coding_transcript_exon_variant,,ENST00000576921,;HCFC1R1,non_coding_transcript_exon_variant,,ENST00000573095,;BICDL2,downstream_gene_variant,,ENST00000572240,;TNFRSF12A,downstream_gene_variant,,ENST00000571351,;THOC6,upstream_gene_variant,,ENST00000574957,;THOC6,upstream_gene_variant,,ENST00000573704,;THOC6,upstream_gene_variant,,ENST00000571057,;THOC6,upstream_gene_variant,,ENST00000576143,;THOC6,upstream_gene_variant,,ENST00000574498,;THOC6,upstream_gene_variant,,ENST00000571046,;TNFRSF12A,downstream_gene_variant,,ENST00000574699,;	A	ENST00000248089	Transcript	missense_variant	565/965	260/417	87/138	S/F	tCc/tTc		1		-1	HCFC1R1	HGNC	HGNC:21198	protein_coding	YES	CCDS10490.1	ENSP00000248089	Q9NWW0		UPI000000D826	NM_001002018.2,NM_017885.3	deleterious_low_confidence(0)		3/4		hmmpanther:PTHR16246,Pfam_domain:PF15226																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	3023254	3023254	G	A	1	0	0	0	0	1	0	0	0	6880	1174	41	3		3	HCFC1R1	16	3023254	Missense_Mutation	SNP	G	C3N-01030_TP	1111350	3023254	87315091	624	22801											
C16orf96	0	.	GRCh38	chr16	4576296	4576296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagccaccaaaatggccGccattgcaacagacacggct	12	4	8	17	2	0	1	0	0	0	1	0	1	0	1	6	2	3	2	6	2	3	1	rs770766977		C3N-01030_TP	C3N-01030_NB	G	G																c.1816G>A	p.Ala606Thr	p.A606T	ENST00000444310	5/16	176	159	17	198	198	0	strelka-varscan-mutect	C16orf96,missense_variant,p.Ala606Thr,ENST00000444310,NM_001145011.1;	A	ENST00000444310	Transcript	missense_variant	1816/3823	1816/3426	606/1141	A/T	Gcc/Acc	rs770766977,COSM970737	1		1	C16orf96	HGNC	HGNC:40031	protein_coding	YES	CCDS53986.1	ENSP00000415027	A6NNT2		UPI0001929538	NM_001145011.1	tolerated(1)		5/16		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs770766977	.												A	3	1	70	4576296	4576296	G	A	1	0	0	0	0	1	0	0	0	1875	1087	38	1		1	C16orf96	16	4576296	Missense_Mutation	SNP	G	C3N-01030_TP	1553042	4576296	85762049	625	22802											
TMC7	0	.	GRCh38	chr16	19044902	19044902	+	Silent	SNP	G	G	T																															aggtgtgtctttatgcggctGgccaccatatgtgtcctggt																										C3N-01030_TP	C3N-01030_NB	G	G																c.1356G>T	p.=	p.L452L	ENST00000569532	10/15	133	119	14	104	104	0	strelka-varscan-mutect	TMC7,synonymous_variant,p.=,ENST00000421369,NM_001324263.1,NM_001160364.2;TMC7,synonymous_variant,p.=,ENST00000304381,NM_024847.4;TMC7,synonymous_variant,p.=,ENST00000569532,NM_001300732.1;TMC7,non_coding_transcript_exon_variant,,ENST00000568469,;	T	ENST00000569532	Transcript	synonymous_variant	1486/2738	1356/2277	452/758	L	ctG/ctT	COSM4797374	1		1	TMC7	HGNC	HGNC:23000	protein_coding	YES	CCDS73837.1	ENSP00000455041		H3BNW8	UPI0001EE466D	NM_001300732.1			10/15		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF42											1						LOW	1	SNV	2		1	1										PASS		.	.												T	2	4	70	19044902	19044902	G	T	1	0	0	0	0	0	0	0	1	16436	1335	47	2		2	TMC7	16	19044902	Silent	SNP	G	C3N-01030_TP	14468606	19044902	71293443	626	22803	479	2									
TMC7	0	.	GRCh38	chr16	19044903	19044903	+	Missense_Mutation	SNP	G	G	T																															ggtgtgtctttatgcggctgGccaccatatgtgtcctggtg																										C3N-01030_TP	C3N-01030_NB	G	G																c.1357G>T	p.Ala453Ser	p.A453S	ENST00000569532	10/15	131	117	14	109	109	0	strelka-varscan-mutect	TMC7,missense_variant,p.Ala343Ser,ENST00000421369,NM_001324263.1,NM_001160364.2;TMC7,missense_variant,p.Ala453Ser,ENST00000304381,NM_024847.4;TMC7,missense_variant,p.Ala453Ser,ENST00000569532,NM_001300732.1;TMC7,non_coding_transcript_exon_variant,,ENST00000568469,;	T	ENST00000569532	Transcript	missense_variant	1487/2738	1357/2277	453/758	A/S	Gcc/Tcc	COSM215636	1		1	TMC7	HGNC	HGNC:23000	protein_coding	YES	CCDS73837.1	ENSP00000455041		H3BNW8	UPI0001EE466D	NM_001300732.1	deleterious(0.01)		10/15		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF42											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	70	19044903	19044903	G	T	1	0	0	0	0	1	0	0	0	16436	1203	42	2		2	TMC7	16	19044903	Missense_Mutation	SNP	G	C3N-01030_TP	1	19044903	71293442	627	22804	479	2									
PDILT	0	.	GRCh38	chr16	20376124	20376124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacaaactctgccacctgctCgctgctgttgaacaaaaatg	12	9	7	13	1	1	1	0	1	1	0	2	1	1	1	2	0	5	4	2	0	4	1	rs143949312		C3N-01030_TP	C3N-01030_NB	C	C																c.487G>C	p.Glu163Gln	p.E163Q	ENST00000302451	4/12	182	139	43	198	198	0	strelka-varscan-mutect	PDILT,missense_variant,p.Glu163Gln,ENST00000302451,NM_174924.1;	G	ENST00000302451	Transcript	missense_variant	736/2153	487/1755	163/584	E/Q	Gag/Cag	rs143949312,COSM5582083	1		-1	PDILT	HGNC	HGNC:27338	protein_coding	YES	CCDS10584.1	ENSP00000305465	Q8N807		UPI000000DAC6	NM_174924.1	tolerated(0.79)		4/12		hmmpanther:PTHR18929:SF58,hmmpanther:PTHR18929,Gene3D:3.40.30.10,Superfamily_domains:SSF52833											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs143949312	.												G	3	3	70	20376124	20376124	C	G	1	0	0	0	0	1	0	0	0	11762	893	31	4		4	PDILT	16	20376124	Missense_Mutation	SNP	C	C3N-01030_TP	1331221	20376124	69962221	628	22805											
PDILT	0	.	GRCh38	chr16	20399119	20399119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagcaccatgaggaagCgggtctggttcagcatctgg	11	7	15	8	1	3	1	1	1	2	0	3	3	3	3	1	5	3	3	1	5	3	1	rs772997693		C3N-01030_TP	C3N-01030_NB	C	C																c.182G>T	p.Arg61Leu	p.R61L	ENST00000302451	2/12	187	157	30	162	161	1	strelka-varscan-mutect	PDILT,missense_variant,p.Arg61Leu,ENST00000302451,NM_174924.1;PDILT,missense_variant,p.Arg61Leu,ENST00000575561,;	A	ENST00000302451	Transcript	missense_variant	431/2153	182/1755	61/584	R/L	cGc/cTc	rs772997693,COSM968046	1		-1	PDILT	HGNC	HGNC:27338	protein_coding	YES	CCDS10584.1	ENSP00000305465	Q8N807		UPI000000DAC6	NM_174924.1	deleterious(0.01)		2/12		hmmpanther:PTHR18929:SF58,hmmpanther:PTHR18929,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs772997693	.												A	3	1	70	20399119	20399119	C	A	1	0	0	0	0	1	0	0	0	11762	768	27	1		1	PDILT	16	20399119	Missense_Mutation	SNP	C	C3N-01030_TP	22995	20399119	69939226	629	22806											
DNAH3	0	.	GRCh38	chr16	21067387	21067387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctctgccatccgtggctgGtcggctgccaccagaatcct	5	11	10	15	2	1	1	0	0	1	1	5	1	3	1	5	3	2	2	5	3	1	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.3414C>A	p.Asp1138Glu	p.D1138E	ENST00000261383	24/62	181	138	43	198	197	1	strelka-varscan-mutect	DNAH3,missense_variant,p.Asp1138Glu,ENST00000261383,NM_017539.2;DNAH3,upstream_gene_variant,,ENST00000572640,;	T	ENST00000261383	Transcript	missense_variant	3414/12394	3414/12351	1138/4116	D/E	gaC/gaA		1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2	tolerated(0.93)		24/62		hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676,Pfam_domain:PF08393																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	21067387	21067387	G	T	1	0	0	0	0	1	0	0	0	4418	1252	44	2		2	DNAH3	16	21067387	Missense_Mutation	SNP	G	C3N-01030_TP	668268	21067387	69270958	630	22807											
UBFD1	0	.	GRCh38	chr16	23557990	23557990	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacacggaggccgagactgtGgctactgaggctcccgcgcg	7	5	16	13	5	0	2	0	1	0	1	1	5	1	3	2	4	1	2	2	4	1	1	rs771559898		C3N-01030_TP	C3N-01030_NB	G	G																c.66G>T	p.=	p.V22V	ENST00000395878	2/7	32	24	8	35	35	0	strelka-varscan-mutect	UBFD1,synonymous_variant,p.=,ENST00000395878,NM_019116.2;UBFD1,synonymous_variant,p.=,ENST00000567212,;UBFD1,synonymous_variant,p.=,ENST00000567264,;EARS2,upstream_gene_variant,,ENST00000449606,NM_001083614.1;EARS2,upstream_gene_variant,,ENST00000563459,;EARS2,upstream_gene_variant,,ENST00000564501,;EARS2,upstream_gene_variant,,ENST00000563232,NM_001308211.1;UBFD1,non_coding_transcript_exon_variant,,ENST00000571064,;UBFD1,upstream_gene_variant,,ENST00000563366,;EARS2,upstream_gene_variant,,ENST00000564461,;EARS2,upstream_gene_variant,,ENST00000561859,;UBFD1,non_coding_transcript_exon_variant,,ENST00000566669,;UBFD1,upstream_gene_variant,,ENST00000569919,;UBFD1,upstream_gene_variant,,ENST00000565634,;EARS2,upstream_gene_variant,,ENST00000564668,;EARS2,upstream_gene_variant,,ENST00000564997,;EARS2,upstream_gene_variant,,ENST00000562799,;EARS2,upstream_gene_variant,,ENST00000563499,;EARS2,upstream_gene_variant,,ENST00000562581,;	T	ENST00000395878	Transcript	synonymous_variant	447/5110	66/930	22/309	V	gtG/gtT	rs771559898	1		1	UBFD1	HGNC	HGNC:30565	protein_coding	YES	CCDS10613.2	ENSP00000379217	O14562		UPI00001FF0A3	NM_019116.2			2/7		hmmpanther:PTHR16470,Low_complexity_(Seg):seg																	LOW		SNV	2			1										PASS		rs771559898	.												T	2	4	70	23557990	23557990	G	T	1	0	0	0	0	0	0	0	1	17408	1335	47	2		2	UBFD1	16	23557990	Silent	SNP	G	C3N-01030_TP	2490603	23557990	66780355	631	22808											
PRKCB	0	.	GRCh38	chr16	24123923	24123923	+	Missense_Mutation	SNP	G	G	T																															caacaatggcaacagagaccGgatgaaactgaccgatttta																										C3N-01030_TP	C3N-01030_NB	G	G																c.1007G>T	p.Arg336Leu	p.R336L	ENST00000303531	9/17	161	149	12	175	175	0	strelka-varscan-mutect	PRKCB,missense_variant,p.Arg336Leu,ENST00000303531,NM_002738.6;PRKCB,missense_variant,p.Arg336Leu,ENST00000321728,NM_212535.2;	T	ENST00000303531	Transcript	missense_variant	1159/7969	1007/2022	336/673	R/L	cGg/cTg	COSM1263065,COSM1263066,COSM1263067	1		1	PRKCB	HGNC	HGNC:9395	protein_coding	YES	CCDS10619.1	ENSP00000305355	P05771		UPI000002ACF9	NM_002738.6	tolerated(0.12)		9/17		Gene3D:3.30.200.20,PIRSF_domain:PIRSF000550,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF188											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs1163412779	.												T	3	4	70	24123923	24123923	G	T	1	0	0	0	0	1	0	0	0	12641	1116	39	1		1	PRKCB	16	24123923	Missense_Mutation	SNP	G	C3N-01030_TP	565933	24123923	66214422	632	22809	480	2									
PRKCB	0	.	GRCh38	chr16	24123924	24123924	+	Silent	SNP	G	G	T																															aacaatggcaacagagaccgGatgaaactgaccgattttaa																								rs539838175		C3N-01030_TP	C3N-01030_NB	G	G																c.1008G>T	p.=	p.R336R	ENST00000303531	9/17	161	149	12	174	174	0	strelka-varscan-mutect	PRKCB,synonymous_variant,p.=,ENST00000303531,NM_002738.6;PRKCB,synonymous_variant,p.=,ENST00000321728,NM_212535.2;	T	ENST00000303531	Transcript	synonymous_variant	1160/7969	1008/2022	336/673	R	cgG/cgT	rs539838175,COSM5577679,COSM702945,COSM702946	1		1	PRKCB	HGNC	HGNC:9395	protein_coding	YES	CCDS10619.1	ENSP00000305355	P05771		UPI000002ACF9	NM_002738.6			9/17		Gene3D:3.30.200.20,PIRSF_domain:PIRSF000550,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF188											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs539838175	.												T	2	4	70	24123924	24123924	G	T	1	0	0	0	0	0	0	0	1	12641	1161	41	2		2	PRKCB	16	24123924	Silent	SNP	G	C3N-01030_TP	1	24123924	66214421	633	22810	480	2									
ARHGAP17	0	.	GRCh38	chr16	24931143	24931143	+	Frame_Shift_Del	DEL	G	G	-																															tcagtggcgtggcctgcgtaGggggctgcggcggtgggtga																								novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2156delC	p.Pro719LeufsTer7	p.P719Lfs*7	ENST00000289968	19/20	43	34	9	61	61	0	sindel-varindel-pindel	ARHGAP17,frameshift_variant,p.Pro719LeufsTer7,ENST00000289968,NM_001006634.2;ARHGAP17,frameshift_variant,p.Pro641LeufsTer7,ENST00000303665,NM_018054.5;ARHGAP17,frameshift_variant,p.Pro87LeufsTer7,ENST00000573765,;ARHGAP17,frameshift_variant,p.Pro7LeufsTer7,ENST00000571843,;ARHGAP17,upstream_gene_variant,,ENST00000571406,;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000572314,;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000570320,;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000575283,;	-	ENST00000289968	Transcript	frameshift_variant	2226/3461	2156/2646	719/881	P/X	cCt/ct		1		-1	ARHGAP17	HGNC	HGNC:18239	protein_coding	YES	CCDS32409.1	ENSP00000289968	Q68EM7		UPI00000433FD	NM_001006634.2			19/20		hmmpanther:PTHR14130,hmmpanther:PTHR14130:SF3,Low_complexity_(Seg):seg																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	70	24931143	24931143	G	-	1	0	1	0	1	0	0	0	0	991	1000	35	0		0	ARHGAP17	16	24931143	Frame_Shift_Del	DEL	G	C3N-01030_TP	807219	24931143	65407202	634	22811											
C16orf82	0	.	GRCh38	chr16	27067268	27067268	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagcctgagcagcgggtaCgcaggggacaaggagggcag	10	2	19	10	2	0	1	0	1	0	0	0	3	0	3	2	5	4	4	2	5	2	1	rs751190448		C3N-01030_TP	C3N-01030_NB	C	C																c.462C>A	p.Tyr154Ter	p.Y154*	ENST00000505035	1/1	238	202	36	213	213	0	strelka-varscan-mutect	C16orf82,stop_gained,p.Tyr154Ter,ENST00000505035,;C16orf82,stop_gained,p.Tyr91Ter,ENST00000418886,NM_001145545.1;RP11-673P17.2,intron_variant,,ENST00000565783,;	A	ENST00000505035	Transcript	stop_gained	562/2459	462/654	154/217	Y/*	taC/taA	rs751190448	1		1	C16orf82	HGNC	HGNC:30755	protein_coding	YES		ENSP00000489874	Q7Z2V1		UPI00001B3F63				1/1		Pfam_domain:PF15765,hmmpanther:PTHR40139,hmmpanther:PTHR40139:SF1																	HIGH		SNV				1										PASS		rs751190448	.												A	4	1	70	27067268	27067268	C	A	1	0	0	0	0	0	1	0	0	1867	547	19	1		1	C16orf82	16	27067268	Nonsense_Mutation	SNP	C	C3N-01030_TP	2136125	27067268	63271077	635	22812											
FAM57B	0	.	GRCh38	chr16	30026685	30026685	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccttgtgcaggtagccaCgcgctatggcccacgtgctg	6	9	12	14	3	0	0	0	0	0	0	1	0	1	0	3	2	3	4	3	2	2	3	rs779223633		C3N-01030_TP	C3N-01030_NB	C	C																c.368G>T	p.Arg123Leu	p.R123L	ENST00000380495	3/5	263	229	34	210	210	0	strelka-varscan-mutect	FAM57B,missense_variant,p.Arg123Leu,ENST00000380495,NM_031478.4;FAM57B,missense_variant,p.Arg73Leu,ENST00000564806,;FAM57B,missense_variant,p.Arg73Leu,ENST00000279389,NM_001318504.1;FAM57B,missense_variant,p.Arg123Leu,ENST00000561666,;C16orf92,intron_variant,,ENST00000569198,;C16orf92,intron_variant,,ENST00000567847,;C16orf92,downstream_gene_variant,,ENST00000300575,NM_001109659.1,NM_001109660.1;DOC2A,upstream_gene_variant,,ENST00000567824,;DOC2A,upstream_gene_variant,,ENST00000572637,;DOC2A,upstream_gene_variant,,ENST00000570194,;DOC2A,upstream_gene_variant,,ENST00000564075,;FAM57B,3_prime_UTR_variant,,ENST00000569508,;C16orf92,downstream_gene_variant,,ENST00000561910,;	A	ENST00000380495	Transcript	missense_variant	1100/2313	368/825	123/274	R/L	cGt/cTt	rs779223633,COSM557640	1		-1	FAM57B	HGNC	HGNC:25295	protein_coding	YES	CCDS10667.2	ENSP00000369863	Q71RH2	F1T0F5	UPI000022EE26	NM_031478.4	tolerated(0.16)		3/5		Pfam_domain:PF03798,PROSITE_profiles:PS50922,SMART_domains:SM00724											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs779223633	.												A	3	1	70	30026685	30026685	C	A	1	0	0	0	0	1	0	0	0	5459	536	19	1		1	FAM57B	16	30026685	Missense_Mutation	SNP	C	C3N-01030_TP	2959417	30026685	60311660	636	22813											
ITGAX	0	.	GRCh38	chr16	31360039	31360039	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcaagggtttacataCacggccaccgccatccaaaa	13	6	8	14	2	0	0	0	0	0	0	1	0	1	0	4	2	4	3	4	2	5	3	rs751181508		C3N-01030_TP	C3N-01030_NB	C	C																c.681C>A	p.Tyr227Ter	p.Y227*	ENST00000562522	7/31	180	158	22	138	138	0	strelka-varscan-mutect	ITGAX,stop_gained,p.Tyr227Ter,ENST00000268296,NM_000887.4;ITGAX,stop_gained,p.Tyr227Ter,ENST00000562522,NM_001286375.1;ITGAX,downstream_gene_variant,,ENST00000562918,;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,downstream_gene_variant,,ENST00000567409,;ITGAX,downstream_gene_variant,,ENST00000564308,;RP11-120K18.3,downstream_gene_variant,,ENST00000561830,;	A	ENST00000562522	Transcript	stop_gained	714/3990	681/3510	227/1169	Y/*	taC/taA	rs751181508	1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1			7/31		Pfam_domain:PF00092,PROSITE_profiles:PS50234,SMART_domains:SM00327,Superfamily_domains:SSF53300																	HIGH	1	SNV	1			1										PASS		rs751181508	.												A	4	1	70	31360039	31360039	C	A	1	0	0	0	0	0	1	0	0	7796	489	17	2		2	ITGAX	16	31360039	Nonsense_Mutation	SNP	C	C3N-01030_TP	1333354	31360039	58978306	637	22814											
ITGAX	0	.	GRCh38	chr16	31380005	31380005	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcccttcggtgctcctcAgagaaaatcgcacccccagc	9	7	7	18	2	1	1	1	0	0	1	5	2	3	1	5	1	2	2	5	1	2	1	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.3000A>T	p.=	p.S1000S	ENST00000562522	26/31	220	203	17	215	215	0	strelka-mutect	ITGAX,synonymous_variant,p.=,ENST00000268296,NM_000887.4;ITGAX,synonymous_variant,p.=,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;	T	ENST00000562522	Transcript	synonymous_variant	3033/3990	3000/3510	1000/1169	S	tcA/tcT		1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1			26/31		hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,Superfamily_domains:SSF69179																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	31380005	31380005	A	T	1	0	0	0	0	0	0	0	1	7796	175	7	4		4	ITGAX	16	31380005	Silent	SNP	A	C3N-01030_TP	19966	31380005	58958340	638	22815											
ITGAX	0	.	GRCh38	chr16	31380948	31380948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaccccacccccctcatcGtaggcagctccattgggggt	8	7	9	17	1	1	0	1	0	0	0	3	0	2	0	6	3	2	3	6	3	2	2	rs770053055		C3N-01030_TP	C3N-01030_NB	G	G																c.3328G>T	p.Val1110Leu	p.V1110L	ENST00000562522	29/31	207	176	31	175	175	0	strelka-varscan-mutect	ITGAX,missense_variant,p.Val1110Leu,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Val1110Leu,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;	T	ENST00000562522	Transcript	missense_variant	3361/3990	3328/3510	1110/1169	V/L	Gta/Tta	rs770053055	1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	tolerated(0.1)		29/31		Gene3D:2k1aA00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs770053055	.												T	3	4	70	31380948	31380948	G	T	1	0	0	0	0	1	0	0	0	7796	1145	40	1		1	ITGAX	16	31380948	Missense_Mutation	SNP	G	C3N-01030_TP	943	31380948	58957397	639	22816											
TP53TG3D	0	.	GRCh38	chr16	32253620	32253620	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaccctgtctcctcgagcTgcaggcttttatgcttgtca	6	13	9	13	1	2	0	1	0	1	0	4	2	2	0	2	1	3	4	2	1	1	3	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.267T>A	p.=	p.A89A	ENST00000398664	1/2	124	108	16	126	126	0	varscan-mutect	TP53TG3D,synonymous_variant,p.=,ENST00000398664,NM_001243722.2;TP53TG3D,intron_variant,,ENST00000569631,;RP11-56L13.7,intron_variant,,ENST00000562604,;TP53TG3D,upstream_gene_variant,,ENST00000564810,;TP53TG3D,synonymous_variant,p.=,ENST00000380148,;TP53TG3D,intron_variant,,ENST00000563025,;TP53TG3D,upstream_gene_variant,,ENST00000568044,;TP53TG3D,upstream_gene_variant,,ENST00000567978,;	A	ENST00000398664	Transcript	synonymous_variant	902/2029	267/375	89/124	A	gcT/gcA		1		1	TP53TG3D	HGNC	HGNC:44657	protein_coding	YES	CCDS58456.1	ENSP00000455596	Q9ULZ0		UPI000006D8DD	NM_001243722.2			1/2																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	32253620	32253620	T	A	1	0	0	0	0	0	0	0	1	16869	1567	55	4		4	TP53TG3D	16	32253620	Silent	SNP	T	C3N-01030_TP	872672	32253620	58084725	640	22817											
CDH11	0	.	GRCh38	chr16	64948710	64948710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttactttaacataggaaaAtagcatcagctggaagccca	15	10	8	8	0	1	0	1	0	0	0	1	2	1	2	1	2	5	3	1	2	7	6	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.1972T>C	p.Phe658Leu	p.F658L	ENST00000394156	13/14	108	77	31	165	165	0	strelka-varscan-mutect	CDH11,missense_variant,p.Phe658Leu,ENST00000394156,NM_001308392.1;CDH11,intron_variant,,ENST00000268603,NM_001797.2;CDH11,intron_variant,,ENST00000566827,;	G	ENST00000394156	Transcript	missense_variant	2426/6874	1972/2082	658/693	F/L	Ttt/Ctt		1		-1	CDH11	HGNC	HGNC:1750	protein_coding			ENSP00000377711	P55287		UPI000016039D	NM_001308392.1			13/14																			MODERATE		SNV	1			1										PASS		.	.												G	3	3	70	64948710	64948710	A	G	1	0	0	0	0	1	0	0	0	2800	101	4	5		5	CDH11	16	64948710	Missense_Mutation	SNP	A	C3N-01030_TP	32695090	64948710	25389635	641	22818											
FA2H	0	.	GRCh38	chr16	74719044	74719045	+	Frame_Shift_Ins	INS	-	-	G																															atgaggtaatagctgtcgctINSggggggcttcatgtggaaca																								novel		C3N-01030_TP	C3N-01030_NB	-	-																c.729dupC	p.Ser244GlnfsTer69	p.S244Qfs*69	ENST00000219368	5/7	199	119	80	231	231	0	sindel-varindel-pindel	FA2H,frameshift_variant,p.Ser244GlnfsTer69,ENST00000219368,NM_024306.4;FA2H,frameshift_variant,p.Ser178GlnfsTer?,ENST00000569949,;FA2H,3_prime_UTR_variant,,ENST00000567683,;FA2H,upstream_gene_variant,,ENST00000562145,;	G	ENST00000219368	Transcript	frameshift_variant	799-800/2424	729-730/1119	243-244/372	-/X	-/C		1		-1	FA2H	HGNC	HGNC:21197	protein_coding	YES	CCDS10911.1	ENSP00000219368	Q7L5A8		UPI000013C77C	NM_024306.4			5/7		hmmpanther:PTHR12863,PIRSF_domain:PIRSF005149,Pfam_domain:PF04116																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	70	74719044	74719044	-	G	1	0	1	1	0	0	0	0	0	5221	1580	55	0		0	FA2H	16	74719044	Frame_Shift_Ins	INS	-	C3N-01030_TP	9770334	74719044	15619301	642	22819											
CNTNAP4	0	.	GRCh38	chr16	76452546	76452546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcacaaccacaatctatGcccgtgacttttctgagctc	9	13	6	13	1	3	2	1	2	2	0	4	2	3	2	2	0	3	2	2	0	3	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1110G>T	p.Met370Ile	p.M370I	ENST00000611870	8/24	176	133	43	301	300	1	strelka-varscan-mutect	CNTNAP4,missense_variant,p.Met370Ile,ENST00000307431,;CNTNAP4,missense_variant,p.Met370Ile,ENST00000611870,NM_033401.3;CNTNAP4,missense_variant,p.Met322Ile,ENST00000377504,;CNTNAP4,missense_variant,p.Met373Ile,ENST00000476707,;CNTNAP4,missense_variant,p.Met322Ile,ENST00000622250,;CNTNAP4,missense_variant,p.Met297Ile,ENST00000478060,NM_138994.3;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000471618,;	T	ENST00000611870	Transcript	missense_variant	1495/4867	1110/3927	370/1308	M/I	atG/atT		1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3	tolerated(0.05)		8/24		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	76452546	76452546	G	T	1	0	0	0	0	1	0	0	0	3431	1319	46	2		2	CNTNAP4	16	76452546	Missense_Mutation	SNP	G	C3N-01030_TP	1733502	76452546	13885799	643	22820											
MON1B	0	.	GRCh38	chr16	77191564	77191564	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacgcagttccccagtgagGaagctagagaaggtggaggg	12	5	16	8	1	0	2	0	1	0	1	1	5	1	4	2	4	1	3	2	4	3	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.79G>T	p.Glu27Ter	p.E27*	ENST00000248248	2/6	80	59	21	93	93	0	strelka-varscan-mutect	MON1B,stop_gained,p.Glu27Ter,ENST00000248248,NM_014940.3;MON1B,stop_gained,p.Glu27Ter,ENST00000439557,NM_001286639.1;MON1B,stop_gained,p.Glu27Ter,ENST00000567291,;MON1B,stop_gained,p.Glu27Ter,ENST00000563612,;MON1B,stop_gained,p.Glu27Ter,ENST00000569610,;MON1B,stop_gained,p.Glu27Ter,ENST00000563279,;MON1B,intron_variant,,ENST00000545553,NM_001286640.1;MON1B,stop_gained,p.Glu27Ter,ENST00000564006,;MON1B,non_coding_transcript_exon_variant,,ENST00000566963,;MON1B,upstream_gene_variant,,ENST00000566455,;	T	ENST00000248248	Transcript	stop_gained	429/6091	79/1644	27/547	E/*	Gaa/Taa		1		1	MON1B	HGNC	HGNC:25020	protein_coding	YES	CCDS10925.1	ENSP00000248248	Q7L1V2		UPI0000072AD7	NM_014940.3			2/6		hmmpanther:PTHR13027:SF13,hmmpanther:PTHR13027																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	70	77191564	77191564	G	T	1	0	0	0	0	0	1	0	0	9663	1175	41	2		2	MON1B	16	77191564	Nonsense_Mutation	SNP	G	C3N-01030_TP	739018	77191564	13146781	644	22821											
MBTPS1	0	.	GRCh38	chr16	84095658	84095658	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgggcaacctggcgcGggatggctctcagcagccgt	5	8	16	12	3	2	0	1	0	2	0	3	1	2	1	2	4	3	3	2	4	1	0	rs138035660		C3N-01030_TP	C3N-01030_NB	G	G																c.569C>G	p.Pro190Arg	p.P190R	ENST00000343411	4/23	218	149	69	187	187	0	strelka-varscan-mutect	MBTPS1,missense_variant,p.Pro190Arg,ENST00000343411,NM_003791.3;MBTPS1,intron_variant,,ENST00000570012,;MBTPS1,upstream_gene_variant,,ENST00000569770,;MBTPS1,upstream_gene_variant,,ENST00000565863,;MBTPS1,upstream_gene_variant,,ENST00000563231,;	C	ENST00000343411	Transcript	missense_variant	1065/4338	569/3159	190/1052	P/R	cCg/cGg	rs138035660	1		-1	MBTPS1	HGNC	HGNC:15456	protein_coding	YES	CCDS10941.1	ENSP00000344223	Q14703		UPI0000033348	NM_003791.3	tolerated(0.23)		4/23		hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF363																	MODERATE	1	SNV	1			1										PASS		rs138035660	.												C	3	2	70	84095658	84095658	G	C	1	0	0	0	0	1	0	0	0	9294	1116	39	4		4	MBTPS1	16	84095658	Missense_Mutation	SNP	G	C3N-01030_TP	6904094	84095658	6242687	645	22822											
FOXC2	0	.	GRCh38	chr16	86567832	86567832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcttcctgcggcgccggcGgcgcttcaaaaagaaggacg	9	5	14	13	6	1	1	1	0	0	1	2	2	2	2	2	4	2	2	2	4	3	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.497G>T	p.Arg166Leu	p.R166L	ENST00000320354	1/1	134	94	40	168	167	1	strelka-varscan-mutect	FOXC2,missense_variant,p.Arg166Leu,ENST00000320354,NM_005251.2;FOXC2-AS1,upstream_gene_variant,,ENST00000563280,;	T	ENST00000320354	Transcript	missense_variant	582/2478	497/1506	166/501	R/L	cGg/cTg		1		1	FOXC2	HGNC	HGNC:3801	protein_coding	YES	CCDS10958.1	ENSP00000326371	Q99958		UPI000012ADC6	NM_005251.2	deleterious(0)		1/1		Low_complexity_(Seg):seg,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF189,Superfamily_domains:SSF46785																	MODERATE		SNV				1										PASS		.	.												T	3	4	70	86567832	86567832	G	T	1	0	0	0	0	1	0	0	0	5855	1116	39	1		1	FOXC2	16	86567832	Missense_Mutation	SNP	G	C3N-01030_TP	2472174	86567832	3770513	646	22823											
ZNF469	0	.	GRCh38	chr16	88436416	88436416	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccactgccccgaggacgaTcggccggaggccattcctga	7	6	12	16	4	0	1	0	1	0	0	3	5	2	3	6	4	1	0	6	4	0	1	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.8862T>A	p.Asp2954Glu	p.D2954E	ENST00000437464	2/2	221	162	59	226	226	0	strelka-varscan-mutect	ZNF469,missense_variant,p.Asp2982Glu,ENST00000565624,;ZNF469,missense_variant,p.Asp2954Glu,ENST00000437464,NM_001127464.2;	A	ENST00000437464	Transcript	missense_variant	8862/13203	8862/11778	2954/3925	D/E	gaT/gaA		1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2	tolerated(0.77)		2/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	88436416	88436416	T	A	1	0	0	0	0	1	0	0	0	18500	1432	50	4		4	ZNF469	16	88436416	Missense_Mutation	SNP	T	C3N-01030_TP	1868584	88436416	1901929	647	22824											
CPNE7	0	.	GRCh38	chr16	89589942	89589942	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggagcccggatccctccCaagtatgaggtaggagagcc	9	8	13	11	1	0	2	0	1	0	1	2	5	2	4	4	4	2	2	4	4	3	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1332C>A	p.=	p.P444P	ENST00000268720	13/17	194	139	55	171	171	0	strelka-varscan-mutect	CPNE7,synonymous_variant,p.=,ENST00000268720,NM_014427.4;CPNE7,synonymous_variant,p.=,ENST00000319518,NM_153636.2;CPNE7,synonymous_variant,p.=,ENST00000529800,;CPNE7,upstream_gene_variant,,ENST00000566398,;CPNE7,synonymous_variant,p.=,ENST00000568977,;CPNE7,downstream_gene_variant,,ENST00000532500,;	A	ENST00000268720	Transcript	synonymous_variant	1462/2657	1332/1902	444/633	P	ccC/ccA		1		1	CPNE7	HGNC	HGNC:2320	protein_coding	YES	CCDS10980.1	ENSP00000268720	Q9UBL6		UPI0000127C17	NM_014427.4			13/17		Pfam_domain:PF07002,PROSITE_profiles:PS50234,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF6,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	89589942	89589942	C	A	1	0	0	0	0	0	0	0	1	3612	581	21	2		2	CPNE7	16	89589942	Silent	SNP	C	C3N-01030_TP	1153526	89589942	748403	648	22825											
GLOD4	0	.	GRCh38	chr17	775813	775813	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattctgcaaatagaacttaTatcctcccggggcctcggtt	9	12	9	11	2	1	1	0	0	1	1	4	2	3	1	3	3	2	2	3	3	5	5	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.368A>T	p.Tyr123Phe	p.Y123F	ENST00000301329	4/9	154	87	67	180	180	0	strelka-varscan-mutect	GLOD4,missense_variant,p.Tyr327Phe,ENST00000536578,;GLOD4,missense_variant,p.Tyr123Phe,ENST00000301329,NM_016080.3;GLOD4,missense_variant,p.Tyr138Phe,ENST00000301328,;GLOD4,missense_variant,p.Tyr123Phe,ENST00000576419,;GLOD4,upstream_gene_variant,,ENST00000573137,;GLOD4,downstream_gene_variant,,ENST00000625892,;GLOD4,downstream_gene_variant,,ENST00000628529,;AC087392.1,upstream_gene_variant,,ENST00000631259,;GLOD4,3_prime_UTR_variant,,ENST00000574554,;GLOD4,3_prime_UTR_variant,,ENST00000575851,;GLOD4,3_prime_UTR_variant,,ENST00000575790,;GLOD4,3_prime_UTR_variant,,ENST00000574581,;GLOD4,3_prime_UTR_variant,,ENST00000572220,;GLOD4,non_coding_transcript_exon_variant,,ENST00000576239,;GLOD4,non_coding_transcript_exon_variant,,ENST00000571073,;GLOD4,upstream_gene_variant,,ENST00000575528,;GLOD4,downstream_gene_variant,,ENST00000576670,;GLOD4,downstream_gene_variant,,ENST00000574354,;GLOD4,downstream_gene_variant,,ENST00000576750,;	A	ENST00000301329	Transcript	missense_variant	454/2059	368/897	123/298	Y/F	tAt/tTt		1		-1	GLOD4	HGNC	HGNC:14111	protein_coding	YES	CCDS32520.1	ENSP00000301329	Q9HC38		UPI000003CA3C	NM_016080.3	deleterious(0.01)		4/9		Superfamily_domains:SSF54593																	MODERATE	1	SNV	1			1										PASS		rs1319836718	.												A	3	1	70	775813	775813	T	A	1	0	0	0	0	1	0	0	0	6329	1406	49	4		4	GLOD4	17	775813	Missense_Mutation	SNP	T	C3N-01030_TP		775813	82481628	649	22826											
ANKFY1	0	.	GRCh38	chr17	4217056	4217056	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaacacatcatcctctcTgaactccagctcatctgtat	11	11	5	14	0	4	1	2	1	2	0	7	2	6	2	2	1	3	2	2	1	3	1	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.511A>T	p.Arg171Ter	p.R171*	ENST00000570535	4/25	158	93	65	176	176	0	strelka-varscan-mutect	ANKFY1,stop_gained,p.Arg129Ter,ENST00000341657,;ANKFY1,stop_gained,p.Arg171Ter,ENST00000570535,NM_001257999.1;ANKFY1,stop_gained,p.Arg129Ter,ENST00000574367,NM_016376.3;ANKFY1,3_prime_UTR_variant,,ENST00000572412,;ANKFY1,non_coding_transcript_exon_variant,,ENST00000570934,;ANKFY1,non_coding_transcript_exon_variant,,ENST00000575955,;	A	ENST00000570535	Transcript	stop_gained	628/6458	511/3636	171/1211	R/*	Aga/Tga		1		-1	ANKFY1	HGNC	HGNC:20763	protein_coding	YES	CCDS58502.1	ENSP00000459943	Q9P2R3		UPI00003FECB0	NM_001257999.1			4/25		PROSITE_profiles:PS50097,hmmpanther:PTHR24189,hmmpanther:PTHR24189:SF34,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695																	HIGH	1	SNV	1			1										PASS		rs1451926252	.												A	4	1	70	4217056	4217056	T	A	1	0	0	0	0	0	1	0	0	728	1588	55	4		4	ANKFY1	17	4217056	Nonsense_Mutation	SNP	T	C3N-01030_TP	3441243	4217056	79040385	650	22827											
MINK1	0	.	GRCh38	chr17	4893060	4893060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgctcacggccaggccGgcccgcagtgagtcacctgg	6	4	13	18	4	2	1	2	1	0	0	2	1	2	1	6	4	0	2	6	4	0	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2393G>T	p.Arg798Leu	p.R798L	ENST00000355280	20/32	147	89	58	124	122	2	strelka-varscan-mutect	MINK1,missense_variant,p.Arg798Leu,ENST00000355280,NM_153827.4,NM_015716.4;MINK1,missense_variant,p.Arg761Leu,ENST00000347992,NM_170663.4;MINK1,missense_variant,p.Arg778Leu,ENST00000453408,NM_001024937.3;CHRNE,downstream_gene_variant,,ENST00000293780,NM_000080.3;MINK1,upstream_gene_variant,,ENST00000576037,;MINK1,3_prime_UTR_variant,,ENST00000574453,NM_001321236.1;MINK1,3_prime_UTR_variant,,ENST00000571207,;MINK1,non_coding_transcript_exon_variant,,ENST00000572330,;MINK1,non_coding_transcript_exon_variant,,ENST00000572629,;MINK1,upstream_gene_variant,,ENST00000574871,;CHRNE,downstream_gene_variant,,ENST00000572438,;MINK1,upstream_gene_variant,,ENST00000575511,;MINK1,upstream_gene_variant,,ENST00000572304,;MINK1,upstream_gene_variant,,ENST00000571526,;	T	ENST00000355280	Transcript	missense_variant	2589/4961	2393/3999	798/1332	R/L	cGg/cTg		1		1	MINK1	HGNC	HGNC:17565	protein_coding	YES	CCDS45588.1	ENSP00000347427	Q8N4C8		UPI00001678BB	NM_153827.4,NM_015716.4	deleterious(0)		20/32																			MODERATE	1	SNV	1			1										PASS		rs1238194870	.												T	3	4	70	4893060	4893060	G	T	1	0	0	0	0	1	0	0	0	9551	1116	39	1		1	MINK1	17	4893060	Missense_Mutation	SNP	G	C3N-01030_TP	676004	4893060	78364381	651	22828											
PITPNM3	0	.	GRCh38	chr17	6474562	6474562	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctgcggccccccagcCgccggggtctcagactcatc	5	5	14	17	3	2	1	2	0	1	1	4	2	2	2	5	4	3	1	5	4	0	0	rs146033772		C3N-01030_TP	C3N-01030_NB	C	C																c.1128G>T	p.=	p.A376A	ENST00000262483	10/20	185	104	81	202	201	1	strelka-varscan-mutect	PITPNM3,synonymous_variant,p.=,ENST00000262483,NM_031220.3;PITPNM3,synonymous_variant,p.=,ENST00000421306,NM_001165966.1;PITPNM3,upstream_gene_variant,,ENST00000576664,;PITPNM3,non_coding_transcript_exon_variant,,ENST00000572795,;	A	ENST00000262483	Transcript	synonymous_variant	1216/7086	1128/2925	376/974	A	gcG/gcT	rs146033772	1		-1	PITPNM3	HGNC	HGNC:21043	protein_coding	YES	CCDS11076.1	ENSP00000262483	Q9BZ71		UPI000022A281	NM_031220.3			10/20		hmmpanther:PTHR10658																	LOW	1	SNV	1			1										PASS		rs146033772	.												A	2	1	70	6474562	6474562	C	A	1	0	0	0	0	0	0	0	1	12048	639	23	1		1	PITPNM3	17	6474562	Silent	SNP	C	C3N-01030_TP	1581502	6474562	76782879	652	22829											
TP53	0	.	GRCh38	chr17	7675232	7675232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acatcttgttgagggcagggGagtactgtaggaagaggaag	12	8	17	4	0	1	2	0	1	1	1	1	5	1	5	0	5	1	4	0	5	4	4	rs730881999		C3N-01030_TP	C3N-01030_NB	G	G																c.380C>T	p.Ser127Phe	p.S127F	ENST00000269305	5/11	253	161	92	225	225	0	strelka-varscan-mutect	TP53,missense_variant,p.Ser127Phe,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Ser127Phe,ENST00000420246,;TP53,missense_variant,p.Ser88Phe,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Ser88Phe,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Ser127Phe,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Ser88Phe,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Ser127Phe,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Ser88Phe,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Ser127Phe,ENST00000445888,;TP53,missense_variant,p.Ser88Phe,ENST00000619485,;TP53,missense_variant,p.Ser127Phe,ENST00000359597,;TP53,missense_variant,p.Ser116Phe,ENST00000615910,;TP53,missense_variant,p.Ser127Phe,ENST00000413465,;TP53,missense_variant,p.Ser127Phe,ENST00000508793,;TP53,missense_variant,p.Ser127Phe,ENST00000503591,;TP53,missense_variant,p.Ser34Phe,ENST00000514944,;TP53,5_prime_UTR_variant,,ENST00000510385,NM_001126116.1;TP53,5_prime_UTR_variant,,ENST00000618944,NM_001276698.1;TP53,5_prime_UTR_variant,,ENST00000504290,NM_001126117.1;TP53,5_prime_UTR_variant,,ENST00000610623,NM_001276699.1;TP53,5_prime_UTR_variant,,ENST00000504937,NM_001126115.1;TP53,5_prime_UTR_variant,,ENST00000619186,NM_001276697.1;TP53,5_prime_UTR_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Ser88Phe,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	570/2579	380/1182	127/393	S/F	tCc/tTc	rs730881999,TP53_g.12368del,TP53_g.12368C>T,TP53_g.12368C>A,TP53_g.12368C>G,COSM1637542,COSM1649368,COSM216412,COSM216413,COSM216414,COSM3378368,COSM3403294,COSM3403295,COSM3403296,COSM3403297,COSM3403298,COSM43970,COSM44226,COSM45483,COSM46131,COSM5301945,COSM562618,COSM562619,COSM562620	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		5/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										uncertain_significance,likely_pathogenic	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs730881999	.												A	3	1	70	7675232	7675232	G	A	1	0	0	0	0	1	0	0	0	16859	1188	41	3		3	TP53	17	7675232	Missense_Mutation	SNP	G	C3N-01030_TP	1200670	7675232	75582209	653	22830											
ALOX15B	0	.	GRCh38	chr17	8039594	8039594	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggggaccctggtgctgcAggagggtacaggtgaggggc	6	5	22	8	1	0	1	0	1	0	0	0	3	0	3	1	9	3	3	1	9	1	1	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.356A>T	p.Gln119Leu	p.Q119L	ENST00000380183	2/14	59	40	19	50	50	0	strelka-varscan-mutect	ALOX15B,missense_variant,p.Gln119Leu,ENST00000380183,NM_001141.2;ALOX15B,missense_variant,p.Gln119Leu,ENST00000380173,NM_001039130.1;ALOX15B,missense_variant,p.Gln119Leu,ENST00000572022,;ALOX15B,missense_variant,p.Gln119Leu,ENST00000573359,NM_001039131.1;ALOX15B,non_coding_transcript_exon_variant,,ENST00000571240,;	T	ENST00000380183	Transcript	missense_variant	495/2739	356/2031	119/676	Q/L	cAg/cTg		1		1	ALOX15B	HGNC	HGNC:434	protein_coding	YES	CCDS11128.1	ENSP00000369530	O15296		UPI0000140991	NM_001141.2	deleterious(0.04)		2/14		PROSITE_profiles:PS50095,hmmpanther:PTHR11771,hmmpanther:PTHR11771:SF58,SMART_domains:SM00308,Superfamily_domains:SSF48484																	MODERATE	1	SNV	1			1										PASS		rs1372970034	.												T	3	4	70	8039594	8039594	A	T	1	0	0	0	0	1	0	0	0	639	188	7	4		4	ALOX15B	17	8039594	Missense_Mutation	SNP	A	C3N-01030_TP	364362	8039594	75217847	654	22831											
MYH1	0	.	GRCh38	chr17	10501464	10501464	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcccgggaggcccgctcTgcctcgatttcctcctccag	3	10	11	17	3	1	0	0	0	1	0	5	2	4	1	6	3	1	1	6	3	0	2	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.3384A>G	p.=	p.A1128A	ENST00000226207	27/40	288	172	116	278	278	0	strelka-varscan-mutect	MYH1,synonymous_variant,p.=,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	C	ENST00000226207	Transcript	synonymous_variant	3479/6024	3384/5820	1128/1939	A	gcA/gcG		1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3			27/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF454,Low_complexity_(Seg):seg,Superfamily_domains:SSF90257																	LOW		SNV	5			1										PASS		.	.												C	2	2	70	10501464	10501464	T	C	1	0	0	0	0	0	0	0	1	10029	1567	55	5		5	MYH1	17	10501464	Silent	SNP	T	C3N-01030_TP	2461870	10501464	72755977	655	22832											
MYOCD	0	.	GRCh38	chr17	12752791	12752791	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagtctcatgagcagcctGaatgggggctctgttccttc	8	11	12	10	0	2	2	1	2	2	0	5	3	3	2	2	2	2	3	2	2	2	2			C3N-01030_TP	C3N-01030_NB	G	G																c.1503G>C	p.=	p.L501L	ENST00000425538	10/14	158	97	61	138	138	0	strelka-varscan-mutect	MYOCD,synonymous_variant,p.=,ENST00000425538,NM_001146312.2;MYOCD,synonymous_variant,p.=,ENST00000443061,;MYOCD,synonymous_variant,p.=,ENST00000343344,NM_153604.3;MYOCD,non_coding_transcript_exon_variant,,ENST00000395988,;	C	ENST00000425538	Transcript	synonymous_variant	1703/8466	1503/2961	501/986	L	ctG/ctC	COSM4853912,COSM4853913,COSM4853914	1		1	MYOCD	HGNC	HGNC:16067	protein_coding	YES	CCDS54091.1	ENSP00000401678	Q8IZQ8		UPI000022A2E2	NM_001146312.2			10/14		hmmpanther:PTHR22793:SF11,hmmpanther:PTHR22793											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												C	2	2	70	12752791	12752791	G	C	1	0	0	0	0	0	0	0	1	10088	1277	45	4		4	MYOCD	17	12752791	Silent	SNP	G	C3N-01030_TP	2251327	12752791	70504650	656	22833											
ZNF287	0	.	GRCh38	chr17	16552529	16552530	+	Frame_Shift_Ins	INS	-	-	AT																															cactttccaacattcattgcINSatttatatggtttcttccca																								novel		C3N-01030_TP	C3N-01030_NB	-	-																c.1611_1612dupAT	p.Cys538TyrfsTer228	p.C538Yfs*228	ENST00000395824	6/6	84	54	30	185	185	0	sindel-varindel-pindel	ZNF287,frameshift_variant,p.Cys538TyrfsTer228,ENST00000395824,;ZNF287,frameshift_variant,p.Cys538TyrfsTer228,ENST00000395825,NM_020653.2;ZNF287,downstream_gene_variant,,ENST00000498796,;	AT	ENST00000395824	Transcript	frameshift_variant	2230-2231/3373	1612-1613/2286	538/761	C/YX	tgc/tATgc		1		-1	ZNF287	HGNC	HGNC:13502	protein_coding	YES	CCDS11179.2	ENSP00000379168	Q9HBT7		UPI0000200A57				6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF236,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	insertion	1			1										PASS		.	.												AT	7	5	70	16552529	16552529	-	AT	1	0	1	1	0	0	0	0	0	18401	710	25	0		0	ZNF287	17	16552529	Frame_Shift_Ins	INS	-	C3N-01030_TP	3799738	16552529	66704912	657	22834											
ZNF624	0	.	GRCh38	chr17	16624340	16624340	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgactcaaatgattctcCtgattattttgtaatctcaa	11	18	4	8	0	3	3	2	3	2	0	5	3	3	3	1	0	0	1	1	0	4	6	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.546G>C	p.Gln182His	p.Q182H	ENST00000311331	6/6	107	61	46	162	162	0	strelka-varscan-mutect	ZNF624,missense_variant,p.Gln182His,ENST00000311331,NM_020787.3;ZNF624,non_coding_transcript_exon_variant,,ENST00000579528,;	G	ENST00000311331	Transcript	missense_variant	638/4241	546/2598	182/865	Q/H	caG/caC		1		-1	ZNF624	HGNC	HGNC:29254	protein_coding	YES	CCDS11180.1	ENSP00000310472	Q9P2J8		UPI0000456A22	NM_020787.3	tolerated(0.11)		6/6																			MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	70	16624340	16624340	C	G	1	0	0	0	0	1	0	0	0	18623	680	24	4		4	ZNF624	17	16624340	Missense_Mutation	SNP	C	C3N-01030_TP	71811	16624340	66633101	658	22835											
MYO19	0	.	GRCh38	chr17	36506557	36506557	+	Frame_Shift_Del	DEL	G	G	-																															aggaaacagccccatgagcaGggggtcctgggattgctgca																								novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1696delC	p.Leu566CysfsTer27	p.L566Cfs*27	ENST00000614623	18/26	59	25	34	56	56	0	sindel-varindel-pindel	MYO19,frameshift_variant,p.Leu566CysfsTer27,ENST00000614623,NM_001163735.1;MYO19,intron_variant,,ENST00000610930,NM_025109.5;MYO19,frameshift_variant,p.Leu566CysfsTer27,ENST00000610992,;MYO19,non_coding_transcript_exon_variant,,ENST00000611622,;MYO19,non_coding_transcript_exon_variant,,ENST00000611794,;MYO19,non_coding_transcript_exon_variant,,ENST00000611125,;MYO19,non_coding_transcript_exon_variant,,ENST00000614416,;MYO19,intron_variant,,ENST00000621550,;MYO19,upstream_gene_variant,,ENST00000617189,;MYO19,upstream_gene_variant,,ENST00000620943,;MYO19,downstream_gene_variant,,ENST00000611063,;MYO19,downstream_gene_variant,,ENST00000612097,;MYO19,upstream_gene_variant,,ENST00000610576,;MYO19,downstream_gene_variant,,ENST00000615902,;MYO19,downstream_gene_variant,,ENST00000620413,;	-	ENST00000614623	Transcript	frameshift_variant	2219/4054	1696/2913	566/970	L/X	Ctg/tg		1		-1	MYO19	HGNC	HGNC:26234	protein_coding	YES	CCDS54112.1	ENSP00000479518	Q96H55		UPI000173AA19	NM_001163735.1			18/26		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF289,SMART_domains:SM00242,Superfamily_domains:SSF52540																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	70	36506557	36506557	G	-	1	0	1	0	1	0	0	0	0	10068	991	35	0		0	MYO19	17	36506557	Frame_Shift_Del	DEL	G	C3N-01030_TP	19882217	36506557	46750884	659	22836											
KRT39	0	.	GRCh38	chr17	40963780	40963780	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtagagacacctcagcttcGtatctttaaaaaccagatgg	13	10	8	10	2	2	2	1	0	1	2	3	3	2	2	2	1	2	3	2	1	5	5	rs761258011		C3N-01030_TP	C3N-01030_NB	G	G																c.555C>A	p.Tyr185Ter	p.Y185*	ENST00000355612	3/7	37	17	20	31	31	0	strelka-varscan-mutect	KRT39,stop_gained,p.Tyr185Ter,ENST00000355612,NM_213656.3;AC004231.2,intron_variant,,ENST00000418393,;KRT39,3_prime_UTR_variant,,ENST00000578078,;KRT39,upstream_gene_variant,,ENST00000578029,;	T	ENST00000355612	Transcript	stop_gained	591/1696	555/1476	185/491	Y/*	taC/taA	rs761258011	1		-1	KRT39	HGNC	HGNC:32971	protein_coding	YES	CCDS11382.1	ENSP00000347823	Q6A163		UPI0000237913	NM_213656.3			3/7		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF106,Pfam_domain:PF00038,SMART_domains:SM01391,Prints_domain:PR01248																	HIGH	1	SNV	1			1										PASS		rs761258011	.												T	4	4	70	40963780	40963780	G	T	1	0	0	0	0	0	1	0	0	8358	1159	40	1		1	KRT39	17	40963780	Nonsense_Mutation	SNP	G	C3N-01030_TP	4457223	40963780	42293661	660	22837											
KRTAP2-4	0	.	GRCh38	chr17	41065667	41065667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtcgcagcacaccgggCggcggcagggctcgcagatg	7	3	19	12	5	0	1	0	0	0	1	2	1	0	1	1	6	1	5	1	6	0	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.179G>T	p.Arg60Leu	p.R60L	ENST00000394015	1/1	60	28	32	57	57	0	strelka-varscan-mutect	KRTAP2-4,missense_variant,p.Arg60Leu,ENST00000394015,NM_033184.3;	A	ENST00000394015	Transcript	missense_variant	213/764	179/387	60/128	R/L	cGc/cTc		1		-1	KRTAP2-4	HGNC	HGNC:18891	protein_coding	YES	CCDS32648.1	ENSP00000377583	Q9BYR9		UPI000006EB3A	NM_033184.3	deleterious(0.01)		1/1		hmmpanther:PTHR23262:SF6,hmmpanther:PTHR23262,Pfam_domain:PF01500																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	70	41065667	41065667	C	A	1	0	0	0	0	1	0	0	0	8422	768	27	1		1	KRTAP2-4	17	41065667	Missense_Mutation	SNP	C	C3N-01030_TP	101887	41065667	42191774	661	22838											
KRT16	0	.	GRCh38	chr17	41610195	41610195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaagccttaccctcgCgggaagaataggattggcca	11	7	11	12	2	1	2	1	0	0	2	2	4	1	4	4	3	2	0	4	3	5	3	rs772428048		C3N-01030_TP	C3N-01030_NB	C	C																c.1322G>T	p.Arg441Leu	p.R441L	ENST00000301653	7/8	453	191	262	345	345	0	strelka-varscan-mutect	KRT16,missense_variant,p.Arg441Leu,ENST00000301653,NM_005557.3;KRT16,downstream_gene_variant,,ENST00000593067,;KRT16,downstream_gene_variant,,ENST00000590990,;KRT16,downstream_gene_variant,,ENST00000588319,;	A	ENST00000301653	Transcript	missense_variant	1387/1644	1322/1422	441/473	R/L	cGc/cTc	rs772428048	1		-1	KRT16	HGNC	HGNC:6423	protein_coding	YES	CCDS11401.1	ENSP00000301653	P08779		UPI0000001C7B	NM_005557.3	tolerated(0.23)		7/8		Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF105																	MODERATE	1	SNV	1			1										PASS		rs772428048	.												A	3	1	70	41610195	41610195	C	A	1	0	0	0	0	1	0	0	0	8335	782	27	1		1	KRT16	17	41610195	Missense_Mutation	SNP	C	C3N-01030_TP	544528	41610195	41647246	662	22839											
KRT16	0	.	GRCh38	chr17	41610405	41610405	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtcttcacatccagcaaGatctggtactcctggctctg	7	11	9	14	2	4	1	1	0	3	1	6	1	6	1	2	2	2	3	2	2	2	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1206C>A	p.=	p.I402I	ENST00000301653	6/8	465	201	264	390	390	0	strelka-varscan-mutect	KRT16,synonymous_variant,p.=,ENST00000301653,NM_005557.3;KRT16,downstream_gene_variant,,ENST00000593067,;KRT16,downstream_gene_variant,,ENST00000590990,;KRT16,downstream_gene_variant,,ENST00000588319,;	T	ENST00000301653	Transcript	synonymous_variant	1271/1644	1206/1422	402/473	I	atC/atA		1		-1	KRT16	HGNC	HGNC:6423	protein_coding	YES	CCDS11401.1	ENSP00000301653	P08779		UPI0000001C7B	NM_005557.3			6/8		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF105,Gene3D:1.20.5.170,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF64593																	LOW	1	SNV	1			1										PASS		rs1379574978	.												T	2	4	70	41610405	41610405	G	T	1	0	0	0	0	0	0	0	1	8335	932	33	2		2	KRT16	17	41610405	Silent	SNP	G	C3N-01030_TP	210	41610405	41647036	663	22840											
OR4D1	0	.	GRCh38	chr17	58155951	58155951	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcccttcaccccattcctCatggacaaggctgtgtccat	7	11	8	15	0	2	0	2	0	0	0	4	1	4	1	5	3	0	1	5	3	1	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.798C>T	p.=	p.L266L	ENST00000268912	1/1	254	118	136	214	214	0	strelka-varscan-mutect	OR4D1,synonymous_variant,p.=,ENST00000268912,NM_012374.1;MSX2P1,upstream_gene_variant,,ENST00000584100,;	T	ENST00000268912	Transcript	synonymous_variant	819/1024	798/933	266/310	L	ctC/ctT		1		1	OR4D1	HGNC	HGNC:8293	protein_coding	YES	CCDS42365.1	ENSP00000365451	Q15615		UPI0000041E8C	NM_012374.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF310,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	70	58155951	58155951	C	T	1	0	0	0	0	0	0	0	1	11130	813	29	3		3	OR4D1	17	58155951	Silent	SNP	C	C3N-01030_TP	16545546	58155951	25101490	664	22841											
BCAS3	0	.	GRCh38	chr17	60889709	60889709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttcaggctgctatccatgtCcagggccaaacatgaatcct	10	11	8	12	0	1	1	1	1	0	0	4	1	4	1	4	2	2	2	4	2	3	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.676C>T	p.Pro226Ser	p.P226S	ENST00000390652	10/25	186	83	103	221	221	0	strelka-varscan-mutect	BCAS3,missense_variant,p.Pro226Ser,ENST00000589222,NM_001320470.1;BCAS3,missense_variant,p.Pro226Ser,ENST00000588462,;BCAS3,missense_variant,p.Pro226Ser,ENST00000390652,NM_001099432.1;BCAS3,missense_variant,p.Pro226Ser,ENST00000408905,;BCAS3,missense_variant,p.Pro226Ser,ENST00000407086,NM_017679.3;BCAS3,5_prime_UTR_variant,,ENST00000588874,;BCAS3,5_prime_UTR_variant,,ENST00000585744,;BCAS3,5_prime_UTR_variant,,ENST00000586484,;BCAS3,5_prime_UTR_variant,,ENST00000590128,;BCAS3,5_prime_UTR_variant,,ENST00000586705,;BCAS3,upstream_gene_variant,,ENST00000586041,;BCAS3,3_prime_UTR_variant,,ENST00000592848,;	T	ENST00000390652	Transcript	missense_variant	707/3531	676/2787	226/928	P/S	Cca/Tca		1		1	BCAS3	HGNC	HGNC:14347	protein_coding	YES	CCDS45749.1	ENSP00000375067	Q9H6U6		UPI00001AE949	NM_001099432.1	tolerated(0.11)		10/25		hmmpanther:PTHR13268,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	60889709	60889709	C	T	1	0	0	0	0	1	0	0	0	1499	855	30	3		3	BCAS3	17	60889709	Missense_Mutation	SNP	C	C3N-01030_TP	2733758	60889709	22367732	665	22842											
MARCH10	0	.	GRCh38	chr17	62744430	62744430	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtttctgtctgcttcTgtccccagatgctctcgggc	2	15	10	14	1	4	1	0	0	4	1	6	1	5	1	2	1	3	4	2	1	0	2	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.595A>T	p.Arg199Ter	p.R199*	ENST00000583600	6/12	230	96	134	153	153	0	strelka-varscan-mutect	MARCH10,stop_gained,p.Arg160Ter,ENST00000544856,NM_001288780.1;MARCH10,stop_gained,p.Arg199Ter,ENST00000583600,NM_001288779.1;MARCH10,stop_gained,p.Arg161Ter,ENST00000311269,NM_152598.3;MARCH10,stop_gained,p.Arg161Ter,ENST00000456609,NM_001100875.2;MARCH10,stop_gained,p.Arg29Ter,ENST00000580520,;	A	ENST00000583600	Transcript	stop_gained	880/3214	595/2541	199/846	R/*	Aga/Tga		1		-1	MARCH10	HGNC	HGNC:26655	protein_coding	YES	CCDS74123.1	ENSP00000463080		J3KTN9	UPI0000EE65AE	NM_001288779.1			6/12		hmmpanther:PTHR14471,hmmpanther:PTHR14471:SF5																	HIGH	1	SNV	1			1										PASS		rs1256509236	.												A	4	1	70	62744430	62744430	T	A	1	0	0	0	0	0	1	0	0	9224	1588	55	4		4	MARCH10	17	62744430	Nonsense_Mutation	SNP	T	C3N-01030_TP	1854721	62744430	20513011	666	22843											
RGS9	0	.	GRCh38	chr17	65225268	65225268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcaccgagagcagcgaGgcctccctcgacacctcctg	7	7	10	17	3	2	1	1	0	1	1	5	4	4	1	5	1	2	1	5	1	0	0			C3N-01030_TP	C3N-01030_NB	G	G																c.1674G>T	p.Glu558Asp	p.E558D	ENST00000262406	18/19	276	115	161	175	174	1	strelka-varscan-mutect	RGS9,missense_variant,p.Glu555Asp,ENST00000449996,NM_001081955.2;RGS9,missense_variant,p.Glu558Asp,ENST00000262406,NM_003835.3;RGS9,missense_variant,p.Glu558Asp,ENST00000635833,;RGS9,missense_variant,p.Glu555Asp,ENST00000443584,NM_001165933.1;RGS9,3_prime_UTR_variant,,ENST00000584234,;RGS9,non_coding_transcript_exon_variant,,ENST00000577595,;	T	ENST00000262406	Transcript	missense_variant	1741/2375	1674/2025	558/674	E/D	gaG/gaT	COSM3795972	1		1	RGS9	HGNC	HGNC:10004	protein_coding	YES	CCDS42373.1	ENSP00000262406	O75916		UPI000013382A	NM_003835.3	tolerated_low_confidence(0.15)		18/19		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF170											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	70	65225268	65225268	G	T	1	0	0	0	0	1	0	0	0	13484	991	35	2		2	RGS9	17	65225268	Missense_Mutation	SNP	G	C3N-01030_TP	2480838	65225268	18032173	667	22844											
ABCA10	0	.	GRCh38	chr17	69194399	69194399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcaccttctgtagaaacaGacaatccactaagaatgttt	14	12	5	10	0	2	3	1	0	2	3	4	3	3	3	2	0	1	2	2	0	5	4	rs200155538		C3N-01030_TP	C3N-01030_NB	G	G																c.1331C>T	p.Ser444Phe	p.S444F	ENST00000269081	13/40	38	34	4	95	94	1	varscan-mutect	ABCA10,missense_variant,p.Ser444Phe,ENST00000269081,NM_080282.3;ABCA10,missense_variant,p.Ser444Phe,ENST00000523419,;ABCA10,3_prime_UTR_variant,,ENST00000522406,;ABCA10,3_prime_UTR_variant,,ENST00000518929,;	A	ENST00000269081	Transcript	missense_variant	2241/6362	1331/4632	444/1543	S/F	tCt/tTt	rs200155538	1		-1	ABCA10	HGNC	HGNC:30	protein_coding	YES	CCDS11684.1	ENSP00000269081	Q8WWZ4		UPI000013D7F6	NM_080282.3	deleterious(0.02)		13/40		PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF140,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs200155538	.												A	3	1	70	69194399	69194399	G	A	1	0	0	0	0	1	0	0	0	33	942	33	3		3	ABCA10	17	69194399	Missense_Mutation	SNP	G	C3N-01030_TP	3969131	69194399	14063042	668	22845											
SLC16A5	0	.	GRCh38	chr17	75100414	75100414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtgatgtggtccgtcctgGgcttcccactgccacaagtc	5	11	12	13	1	0	1	0	1	0	0	4	1	3	1	4	2	1	1	4	2	1	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.751G>T	p.Gly251Cys	p.G251C	ENST00000450736	4/6	272	106	166	206	206	0	strelka-varscan-mutect	SLC16A5,missense_variant,p.Gly251Cys,ENST00000450736,;SLC16A5,missense_variant,p.Gly251Cys,ENST00000580123,NM_001271765.1;SLC16A5,missense_variant,p.Gly251Cys,ENST00000329783,NM_004695.3;SLC16A5,missense_variant,p.Gly291Cys,ENST00000538213,;SLC16A5,missense_variant,p.Gly251Cys,ENST00000578376,;SLC16A5,downstream_gene_variant,,ENST00000584118,;SLC16A5,downstream_gene_variant,,ENST00000584207,;SLC16A5,downstream_gene_variant,,ENST00000585293,;SLC16A5,downstream_gene_variant,,ENST00000582048,;	T	ENST00000450736	Transcript	missense_variant	1166/2051	751/1518	251/505	G/C	Ggc/Tgc		1		1	SLC16A5	HGNC	HGNC:10926	protein_coding	YES	CCDS11713.1	ENSP00000390564	O15375		UPI0000000DC7		deleterious(0)		4/6		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF21,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00892,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	75100414	75100414	G	T	1	0	0	0	0	1	0	0	0	14677	1232	43	2		2	SLC16A5	17	75100414	Missense_Mutation	SNP	G	C3N-01030_TP	5906015	75100414	8157027	669	22846											
RPTOR	0	.	GRCh38	chr17	80892761	80892761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaccccagtgcgagacagcCcgtgcacccccagacttcgt	8	6	10	17	3	0	3	0	1	0	2	1	4	0	3	5	0	3	1	5	0	0	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2134C>T	p.Pro712Ser	p.P712S	ENST00000306801	19/34	203	86	117	184	184	0	strelka-varscan-mutect	RPTOR,missense_variant,p.Pro712Ser,ENST00000306801,NM_020761.2;RPTOR,missense_variant,p.Pro554Ser,ENST00000544334,NM_001163034.1;RPTOR,non_coding_transcript_exon_variant,,ENST00000575542,;RPTOR,non_coding_transcript_exon_variant,,ENST00000577161,;	T	ENST00000306801	Transcript	missense_variant	2496/6408	2134/4008	712/1335	P/S	Ccg/Tcg		1		1	RPTOR	HGNC	HGNC:30287	protein_coding	YES	CCDS11773.1	ENSP00000307272	Q8N122		UPI000007000F	NM_020761.2	tolerated(0.32)		19/34		hmmpanther:PTHR12848																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	80892761	80892761	C	T	1	0	0	0	0	1	0	0	0	13920	623	22	3		3	RPTOR	17	80892761	Missense_Mutation	SNP	C	C3N-01030_TP	5792347	80892761	2364680	670	22847											
HGS	0	.	GRCh38	chr17	81694836	81694836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcgtcggcgcctctggctGaggacatcgaccctgaggta	7	8	13	13	4	1	2	0	2	1	0	4	4	1	3	2	4	0	2	2	4	1	1			C3N-01030_TP	C3N-01030_NB	G	G																c.958G>A	p.Glu320Lys	p.E320K	ENST00000329138	12/22	489	408	81	332	332	0	strelka-varscan-mutect	HGS,missense_variant,p.Glu320Lys,ENST00000329138,NM_004712.4;HGS,missense_variant,p.Glu40Lys,ENST00000571237,;HGS,downstream_gene_variant,,ENST00000572392,;MIR6786,downstream_gene_variant,,ENST00000616843,;RP13-1032I1.11,downstream_gene_variant,,ENST00000620344,;HGS,non_coding_transcript_exon_variant,,ENST00000575058,;HGS,upstream_gene_variant,,ENST00000571647,;HGS,downstream_gene_variant,,ENST00000573080,;HGS,downstream_gene_variant,,ENST00000576498,;HGS,downstream_gene_variant,,ENST00000576393,;HGS,upstream_gene_variant,,ENST00000570355,;HGS,downstream_gene_variant,,ENST00000576087,;HGS,upstream_gene_variant,,ENST00000573949,;HGS,upstream_gene_variant,,ENST00000571885,;	A	ENST00000329138	Transcript	missense_variant	1093/2970	958/2334	320/777	E/K	Gag/Aag	COSM437794	1		1	HGS	HGNC	HGNC:4897	protein_coding	YES	CCDS11784.1	ENSP00000331201	O14964	A0A0S2Z4R4	UPI000004493D	NM_004712.4	tolerated(0.09)		12/22		PIRSF_domain:PIRSF036956,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF83											1						MODERATE	1	SNV	1		1	1										PASS		rs1483430322	.												A	3	1	70	81694836	81694836	G	A	1	0	0	0	0	1	0	0	0	6972	1291	45	3		3	HGS	17	81694836	Missense_Mutation	SNP	G	C3N-01030_TP	802075	81694836	1562605	671	22848											
B3GNTL1	0	.	GRCh38	chr17	83051761	83051761	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcctgcatggcctggctCtcctcggacgccccgcccac	3	7	12	19	3	1	0	0	0	1	0	3	1	1	1	6	4	1	2	6	4	0	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.36G>C	p.Glu12Asp	p.E12D	ENST00000320865	1/13	131	67	64	106	106	0	strelka-varscan-mutect	B3GNTL1,missense_variant,p.Glu12Asp,ENST00000320865,NM_001009905.1;B3GNTL1,upstream_gene_variant,,ENST00000576599,;B3GNTL1,upstream_gene_variant,,ENST00000571954,;B3GNTL1,upstream_gene_variant,,ENST00000573629,;B3GNTL1,upstream_gene_variant,,ENST00000570947,;B3GNTL1,missense_variant,p.Glu12Asp,ENST00000571218,;	G	ENST00000320865	Transcript	missense_variant	50/1383	36/1086	12/361	E/D	gaG/gaC		1		-1	B3GNTL1	HGNC	HGNC:21727	protein_coding	YES	CCDS32778.1	ENSP00000319979	Q67FW5	A0A024R8X6	UPI00003B5C5A	NM_001009905.1	tolerated_low_confidence(0.5)		1/13		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	83051761	83051761	C	G	1	0	0	0	0	1	0	0	0	1421	912	32	4		4	B3GNTL1	17	83051761	Missense_Mutation	SNP	C	C3N-01030_TP	1356925	83051761	205680	672	22849											
CLUL1	0	.	GRCh38	chr18	645079	645079	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagctctacagcattttaAggaacattttaaaacctggt	16	12	6	7	0	1	0	0	0	1	0	1	1	1	1	1	2	5	2	1	2	7	5	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.1535A>T	p.Lys512Met	p.K512M	ENST00000540035	10/11	82	65	17	66	66	0	strelka-varscan-mutect	CLUL1,missense_variant,p.Lys485Met,ENST00000581619,;CLUL1,missense_variant,p.Lys512Met,ENST00000540035,NM_001289036.1;CLUL1,missense_variant,p.Lys512Met,ENST00000620089,;CLUL1,missense_variant,p.Lys460Met,ENST00000400606,NM_014410.4;CLUL1,missense_variant,p.Lys460Met,ENST00000338387,NM_001318522.1,NM_199167.1;CLUL1,missense_variant,p.Lys460Met,ENST00000579494,;CLUL1,intron_variant,,ENST00000585155,;TYMSOS,intron_variant,,ENST00000585033,;TYMSOS,downstream_gene_variant,,ENST00000323813,;	T	ENST00000540035	Transcript	missense_variant	1744/2199	1535/1557	512/518	K/M	aAg/aTg		1		1	CLUL1	HGNC	HGNC:2096	protein_coding	YES	CCDS74187.1	ENSP00000441726		F5GWQ8	UPI000206520E	NM_001289036.1	deleterious(0)		10/11		hmmpanther:PTHR10970:SF2,hmmpanther:PTHR10970,Pfam_domain:PF01093,SMART_domains:SM00035																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	70	645079	645079	A	T	1	0	0	0	0	1	0	0	0	3343	72	3	4		4	CLUL1	18	645079	Missense_Mutation	SNP	A	C3N-01030_TP		645079	79728206	673	22850											
ENOSF1	0	.	GRCh38	chr18	683260	683260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaccttggaaatggtggCgtgccccagaatgtcatcag	9	10	11	11	1	2	1	2	0	0	1	3	2	3	2	4	3	2	0	4	3	3	2	rs376976768		C3N-01030_TP	C3N-01030_NB	C	C																c.925G>T	p.Ala309Ser	p.A309S	ENST00000340116	11/15	121	88	33	117	117	0	strelka-varscan-mutect	ENOSF1,missense_variant,p.Ala206Ser,ENST00000383578,NM_001318759.1,NM_001126123.3;ENOSF1,missense_variant,p.Ala288Ser,ENST00000251101,NM_017512.5;ENOSF1,missense_variant,p.Ala309Ser,ENST00000340116,NM_202758.3;ENOSF1,missense_variant,p.Ala212Ser,ENST00000580982,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000583973,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000581928,;ENOSF1,3_prime_UTR_variant,,ENST00000581475,NM_001318760.1;ENOSF1,3_prime_UTR_variant,,ENST00000585128,;ENOSF1,3_prime_UTR_variant,,ENST00000584453,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000584259,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000578651,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000582745,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000578647,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000584706,;ENOSF1,downstream_gene_variant,,ENST00000585004,;ENOSF1,downstream_gene_variant,,ENST00000577334,;	A	ENST00000340116	Transcript	missense_variant	963/1658	925/1353	309/450	A/S	Gcc/Tcc	rs376976768,COSM3145564,COSM3145565	1		-1	ENOSF1	HGNC	HGNC:30365	protein_coding	YES	CCDS11823.1	ENSP00000345974	Q7L5Y1		UPI0000252153	NM_202758.3	deleterious(0.02)		11/15		Gene3D:3.20.20.120,Pfam_domain:PF13378,hmmpanther:PTHR13794,hmmpanther:PTHR13794:SF58,SMART_domains:SM00922,Superfamily_domains:SSF51604											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs376976768	.												A	3	1	70	683260	683260	C	A	1	0	0	0	0	1	0	0	0	4970	768	27	1		1	ENOSF1	18	683260	Missense_Mutation	SNP	C	C3N-01030_TP	38181	683260	79690025	674	22851											
ENOSF1	0	.	GRCh38	chr18	712406	712406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcttaccatggcgtccGcgcttaccatggcgtccgcg	4	8	12	17	8	0	0	0	0	0	0	2	0	2	0	5	2	2	2	5	2	2	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.101C>G	p.Ala34Gly	p.A34G	ENST00000340116	1/15	163	122	41	86	86	0	strelka-varscan-mutect	ENOSF1,missense_variant,p.Ala34Gly,ENST00000340116,NM_202758.3;ENOSF1,intron_variant,,ENST00000383578,NM_001318759.1,NM_001126123.3;ENOSF1,intron_variant,,ENST00000251101,NM_017512.5;ENOSF1,intron_variant,,ENST00000580982,;ENOSF1,intron_variant,,ENST00000583771,;RP11-806L2.6,downstream_gene_variant,,ENST00000580007,;ENOSF1,non_coding_transcript_exon_variant,,ENST00000581332,;ENOSF1,intron_variant,,ENST00000580605,;ENOSF1,intron_variant,,ENST00000581475,NM_001318760.1;ENOSF1,intron_variant,,ENST00000585004,;ENOSF1,intron_variant,,ENST00000585128,;ENOSF1,intron_variant,,ENST00000584453,;ENOSF1,intron_variant,,ENST00000578651,;	C	ENST00000340116	Transcript	missense_variant	139/1658	101/1353	34/450	A/G	gCg/gGg		1		-1	ENOSF1	HGNC	HGNC:30365	protein_coding	YES	CCDS11823.1	ENSP00000345974	Q7L5Y1		UPI0000252153	NM_202758.3	tolerated_low_confidence(0.15)		1/15		hmmpanther:PTHR13794,hmmpanther:PTHR13794:SF58																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	70	712406	712406	G	C	1	0	0	0	0	1	0	0	0	4970	1087	38	4		4	ENOSF1	18	712406	Missense_Mutation	SNP	G	C3N-01030_TP	29146	712406	79660879	675	22852											
SMCHD1	0	.	GRCh38	chr18	2752487	2752487	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctactcccctttctaGgcagaaacatttagttgtaa	10	14	5	12	0	2	1	0	0	2	1	4	1	3	1	3	1	2	3	3	1	5	7	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.4282-1G>T		p.X1428_splice	ENST00000320876		198	158	40	284	280	4	strelka-varscan-mutect	SMCHD1,splice_acceptor_variant,,ENST00000320876,NM_015295.2;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,splice_acceptor_variant,,ENST00000577880,;SMCHD1,splice_acceptor_variant,,ENST00000584897,;SMCHD1,splice_acceptor_variant,,ENST00000583441,;	T	ENST00000320876	Transcript	splice_acceptor_variant	-/8821	4282/6018	1428/2005				1		1	SMCHD1	HGNC	HGNC:29090	protein_coding	YES	CCDS45822.1	ENSP00000326603	A6NHR9		UPI00001D7AAD	NM_015295.2				33/47																		HIGH		SNV	5			1										PASS		.	.												T	5	4	70	2752487	2752487	G	T	1	0	0	0	0	0	0	1	0	15081	1014	35	2		2	SMCHD1	18	2752487	Splice_Site	SNP	G	C3N-01030_TP	2040081	2752487	77620798	676	22853											
EPB41L3	0	.	GRCh38	chr18	5397190	5397190	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacctcctcccctccttcCtctttagccccctccgtcaa	4	11	4	22	2	2	0	1	0	1	0	7	1	7	0	9	0	1	0	9	0	2	3			C3N-01030_TP	C3N-01030_NB	C	C																c.2709G>A	p.=	p.E903E	ENST00000341928	18/23	288	262	26	225	225	0	strelka-varscan-mutect	EPB41L3,synonymous_variant,p.=,ENST00000341928,NM_012307.3;EPB41L3,synonymous_variant,p.=,ENST00000342933,;EPB41L3,synonymous_variant,p.=,ENST00000400111,;EPB41L3,synonymous_variant,p.=,ENST00000544123,NM_001281533.1;EPB41L3,synonymous_variant,p.=,ENST00000540638,NM_001281534.1;EPB41L3,synonymous_variant,p.=,ENST00000545076,NM_001281535.1;EPB41L3,synonymous_variant,p.=,ENST00000578524,;EPB41L3,synonymous_variant,p.=,ENST00000581292,;EPB41L3,upstream_gene_variant,,ENST00000579951,;EPB41L3,downstream_gene_variant,,ENST00000579271,;EPB41L3,downstream_gene_variant,,ENST00000581387,;EPB41L3,downstream_gene_variant,,ENST00000580647,;EPB41L3,downstream_gene_variant,,ENST00000580316,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,downstream_gene_variant,,ENST00000582729,;EPB41L3,3_prime_UTR_variant,,ENST00000637651,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578618,;EPB41L3,downstream_gene_variant,,ENST00000584055,;EPB41L3,downstream_gene_variant,,ENST00000578196,;	T	ENST00000341928	Transcript	synonymous_variant	3050/4706	2709/3264	903/1087	E	gaG/gaA	COSM4869269,COSM4869270,COSM989060	1		-1	EPB41L3	HGNC	HGNC:3380	protein_coding	YES	CCDS11838.1	ENSP00000343158	Q9Y2J2		UPI0000129AFA	NM_012307.3			18/23		Low_complexity_(Seg):seg											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												T	2	4	70	5397190	5397190	C	T	1	0	0	0	0	0	0	0	1	5001	680	24	3		3	EPB41L3	18	5397190	Silent	SNP	C	C3N-01030_TP	2644703	5397190	74976095	677	22854											
LAMA1	0	.	GRCh38	chr18	7117660	7117660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacccgggccgggctcacCtctctgccggcactgcgcgg	4	5	15	17	5	2	0	1	0	1	0	3	1	2	1	4	5	2	2	4	5	0	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.61G>T	p.Gly21Cys	p.G21C	ENST00000389658	1/63	391	303	88	261	261	0	strelka-varscan-mutect	LAMA1,missense_variant,p.Gly21Cys,ENST00000389658,NM_005559.3;LAMA1,splice_region_variant,,ENST00000579014,;	A	ENST00000389658	Transcript	missense_variant,splice_region_variant	155/9657	61/9228	21/3075	G/C	Ggc/Tgc		1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	deleterious(0.01)		1/63		PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299,SMART_domains:SM00136																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	70	7117660	7117660	C	A	1	0	0	0	0	1	0	0	0	8509	695	24	2		2	LAMA1	18	7117660	Missense_Mutation	SNP	C	C3N-01030_TP	1720470	7117660	73255625	678	22855											
PIEZO2	0	.	GRCh38	chr18	11148580	11148580	+	Silent	SNP	T	T	C																															atgagcccgcacaccacttcTgaggccatcgcgtcggtccg																								novel		C3N-01030_TP	C3N-01030_NB	T	T																c.9A>G	p.=	p.S3S	ENST00000503781	1/52	198	162	36	168	168	0	strelka-varscan-mutect	PIEZO2,synonymous_variant,p.=,ENST00000302079,;PIEZO2,synonymous_variant,p.=,ENST00000580640,;PIEZO2,synonymous_variant,p.=,ENST00000503781,NM_022068.3;PIEZO2,5_prime_UTR_variant,,ENST00000383408,;PIEZO2,synonymous_variant,p.=,ENST00000582913,;	C	ENST00000503781	Transcript	synonymous_variant	9/8259	9/8259	3/2752	S	tcA/tcG		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3			1/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	70	11148580	11148580	T	C	1	0	0	0	0	0	0	0	1	11975	1567	55	5		5	PIEZO2	18	11148580	Silent	SNP	T	C3N-01030_TP	4030920	11148580	69224705	679	22856	481	2									
PIEZO2	0	.	GRCh38	chr18	11148581	11148581	+	Nonsense_Mutation	SNP	G	G	T																															tgagcccgcacaccacttctGaggccatcgcgtcggtccgg																								novel		C3N-01030_TP	C3N-01030_NB	G	G																c.8C>A	p.Ser3Ter	p.S3*	ENST00000503781	1/52	194	158	36	166	166	0	strelka-varscan-mutect	PIEZO2,stop_gained,p.Ser3Ter,ENST00000302079,;PIEZO2,stop_gained,p.Ser3Ter,ENST00000580640,;PIEZO2,stop_gained,p.Ser3Ter,ENST00000503781,NM_022068.3;PIEZO2,5_prime_UTR_variant,,ENST00000383408,;PIEZO2,stop_gained,p.Ser3Ter,ENST00000582913,;	T	ENST00000503781	Transcript	stop_gained	8/8259	8/8259	3/2752	S/*	tCa/tAa		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3			1/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	70	11148581	11148581	G	T	1	0	0	0	0	0	1	0	0	11975	1294	45	2		2	PIEZO2	18	11148581	Nonsense_Mutation	SNP	G	C3N-01030_TP	1	11148581	69224704	680	22857	481	2									
ANKRD30B	0	.	GRCh38	chr18	14796416	14796416	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagagaaacattcaaagcagGtaaattttgtaatttaactt	17	13	6	5	0	1	1	1	0	0	1	1	2	1	1	0	1	3	3	0	1	6	8	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1927+1G>C		p.X643_splice	ENST00000358984		76	62	14	108	108	0	strelka-varscan-mutect	ANKRD30B,splice_donor_variant,,ENST00000358984,NM_001145029.1;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,splice_donor_variant,,ENST00000580206,;	C	ENST00000358984	Transcript	splice_donor_variant	-/4359	1927/4179	643/1392				1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1				18/35																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	70	14796416	14796416	G	C	1	0	0	0	0	0	0	1	0	762	1275	44	4		4	ANKRD30B	18	14796416	Splice_Site	SNP	G	C3N-01030_TP	3647835	14796416	65576869	681	22858											
DSG1	0	.	GRCh38	chr18	31355021	31355021	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtctgagtatgcaccccgAgttagccaatgcccacaatg	11	9	9	12	1	1	1	0	1	1	0	1	2	1	1	4	0	3	3	4	0	5	3	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.2825A>T	p.Glu942Val	p.E942V	ENST00000257192	15/15	249	174	75	266	266	0	strelka-varscan-mutect	DSG1,missense_variant,p.Glu942Val,ENST00000257192,NM_001942.3;DSG1,missense_variant,p.Glu301Val,ENST00000462981,;DSG1-AS1,intron_variant,,ENST00000581856,;DSG1-AS1,intron_variant,,ENST00000578477,;DSG1-AS1,intron_variant,,ENST00000581452,;DSG1-AS1,upstream_gene_variant,,ENST00000578119,;	T	ENST00000257192	Transcript	missense_variant	3037/5045	2825/3150	942/1049	E/V	gAg/gTg		1		1	DSG1	HGNC	HGNC:3048	protein_coding	YES	CCDS11896.1	ENSP00000257192	Q02413		UPI000013CF4C	NM_001942.3	deleterious(0)		15/15		hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	31355021	31355021	A	T	1	0	0	0	0	1	0	0	0	4597	304	11	4		4	DSG1	18	31355021	Missense_Mutation	SNP	A	C3N-01030_TP	16558605	31355021	49018264	682	22859											
RIT2	0	.	GRCh38	chr18	42923632	42923632	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggggaatttcataggtGtggcggacctgaaaaatgag	13	8	14	6	1	1	2	1	2	0	0	1	4	1	4	2	5	0	0	2	5	4	2	rs762070204		C3N-01030_TP	C3N-01030_NB	G	G																c.366C>G	p.His122Gln	p.H122Q	ENST00000326695	4/5	127	101	26	187	186	1	strelka-mutect	RIT2,missense_variant,p.His122Gln,ENST00000589109,NM_001272077.1;RIT2,missense_variant,p.His122Gln,ENST00000326695,NM_002930.3;RIT2,missense_variant,p.Thr143Arg,ENST00000590910,;RIT2,non_coding_transcript_exon_variant,,ENST00000594852,;	C	ENST00000326695	Transcript	missense_variant	538/1092	366/654	122/217	H/Q	caC/caG	rs762070204	1		-1	RIT2	HGNC	HGNC:10017	protein_coding	YES	CCDS11921.1	ENSP00000321805	Q99578		UPI0000073E97	NM_002930.3	tolerated(0.14)		4/5		Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF203,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231																	MODERATE	1	SNV	1			1										PASS		rs762070204	.												C	3	2	70	42923632	42923632	G	C	1	0	0	0	0	1	0	0	0	13562	1377	48	4		4	RIT2	18	42923632	Missense_Mutation	SNP	G	C3N-01030_TP	11568611	42923632	37449653	683	22860											
TCEB3B	0	.	GRCh38	chr18	47034311	47034311	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcccggccgtctagactGggcctcttcttgttcgagtg	3	12	14	12	3	3	1	0	0	3	1	5	2	4	1	3	3	0	1	3	3	1	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.954C>A	p.=	p.P318P	ENST00000332567	1/1	66	43	23	91	91	0	strelka-varscan-mutect	TCEB3B,synonymous_variant,p.=,ENST00000332567,NM_016427.2;KATNAL2,intron_variant,,ENST00000245121,NM_031303.2;TCEB3B,intron_variant,,ENST00000620522,;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3C,upstream_gene_variant,,ENST00000330682,NM_145653.3;	T	ENST00000332567	Transcript	synonymous_variant	1311/3050	954/2262	318/753	P	ccC/ccA		1		-1	TCEB3B	HGNC	HGNC:30771	protein_coding	YES	CCDS11932.1	ENSP00000331302	Q8IYF1		UPI0000140A82	NM_016427.2			1/1		hmmpanther:PTHR15141:SF7,hmmpanther:PTHR15141																	LOW		SNV				1										PASS		.	.												T	2	4	70	47034311	47034311	G	T	1	0	0	0	0	0	0	0	1	16089	1335	47	2		2	TCEB3B	18	47034311	Silent	SNP	G	C3N-01030_TP	4110679	47034311	33338974	684	22861											
SERPINB5	0	.	GRCh38	chr18	63489459	63489459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactcaattaaggatctcaCagatggcaagtaccctttaa	15	10	6	10	0	2	1	2	0	1	1	3	2	2	2	1	2	2	2	1	2	6	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.419C>A	p.Thr140Lys	p.T140K	ENST00000382771	4/7	52	33	19	91	91	0	strelka-mutect	SERPINB5,missense_variant,p.Thr140Lys,ENST00000382771,NM_002639.4;SERPINB5,missense_variant,p.Thr140Lys,ENST00000489441,;SERPINB5,downstream_gene_variant,,ENST00000424602,;RP11-635N19.3,downstream_gene_variant,,ENST00000602456,;SERPINB5,upstream_gene_variant,,ENST00000464346,;SERPINB5,upstream_gene_variant,,ENST00000465652,;SERPINB5,non_coding_transcript_exon_variant,,ENST00000588986,;	A	ENST00000382771	Transcript	missense_variant	711/2783	419/1128	140/375	T/K	aCa/aAa		1		1	SERPINB5	HGNC	HGNC:8949	protein_coding	YES	CCDS32839.1	ENSP00000372221	P36952	A0A024R2B6	UPI0000201E51	NM_002639.4	deleterious(0)		4/7		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF55,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	63489459	63489459	C	A	1	0	0	0	0	1	0	0	0	14380	492	17	2		2	SERPINB5	18	63489459	Missense_Mutation	SNP	C	C3N-01030_TP	16455148	63489459	16883826	685	22862											
DOK6	0	.	GRCh38	chr18	69401304	69401304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaaatccgcagcaggaaGcttggggtgagtggctcgct	9	8	16	8	2	0	2	0	2	0	0	2	3	1	3	1	4	2	5	1	4	3	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.60G>T	p.Lys20Asn	p.K20N	ENST00000382713	1/8	48	33	15	47	47	0	strelka-varscan-mutect	DOK6,missense_variant,p.Lys20Asn,ENST00000382713,NM_152721.5;RP11-17E3.1,upstream_gene_variant,,ENST00000619582,;	T	ENST00000382713	Transcript	missense_variant	250/8890	60/996	20/331	K/N	aaG/aaT		1		1	DOK6	HGNC	HGNC:28301	protein_coding	YES	CCDS32841.1	ENSP00000372160	Q6PKX4		UPI000035EC7C	NM_152721.5	tolerated(0.26)		1/8		Gene3D:2.30.29.30,hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF43,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	69401304	69401304	G	T	1	0	0	0	0	1	0	0	0	4516	962	34	2		2	DOK6	18	69401304	Missense_Mutation	SNP	G	C3N-01030_TP	5911845	69401304	10971981	686	22863											
ZNF516	0	.	GRCh38	chr18	76441402	76441402	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccgcagcgggcccgcgcCgccctgtccccgtcactgtc	3	6	12	20	6	1	0	1	0	0	0	4	1	3	0	6	1	1	1	6	1	0	0	rs753884582		C3N-01030_TP	C3N-01030_NB	C	C																c.1653G>T	p.=	p.A551A	ENST00000443185	3/7	130	92	38	128	128	0	strelka-varscan-mutect	ZNF516,synonymous_variant,p.=,ENST00000443185,NM_014643.3;ZNF516,downstream_gene_variant,,ENST00000532857,;	A	ENST00000443185	Transcript	synonymous_variant	1971/8118	1653/3492	551/1163	A	gcG/gcT	rs753884582	1		-1	ZNF516	HGNC	HGNC:28990	protein_coding	YES	CCDS74234.1	ENSP00000394757	Q92618		UPI00001394A1	NM_014643.3			3/7		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF3																	LOW	1	SNV	1			1										PASS		rs753884582	.												A	2	1	70	76441402	76441402	C	A	1	0	0	0	0	0	0	0	1	18532	639	23	1		1	ZNF516	18	76441402	Silent	SNP	C	C3N-01030_TP	7040098	76441402	3931883	687	22864											
SF3A2	0	.	GRCh38	chr19	2243452	2243452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgccccgggggcaagaccGggagcgggggcgtggcctcc	5	3	19	14	5	0	1	0	0	0	1	2	2	1	2	5	6	1	1	5	6	1	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.34G>T	p.Gly12Trp	p.G12W	ENST00000221494	2/9	51	39	12	51	51	0	strelka-varscan-mutect	SF3A2,missense_variant,p.Gly12Trp,ENST00000221494,NM_007165.4;SF3A2,missense_variant,p.Gly12Trp,ENST00000586396,;SF3A2,non_coding_transcript_exon_variant,,ENST00000592314,;SF3A2,non_coding_transcript_exon_variant,,ENST00000589118,;SF3A2,non_coding_transcript_exon_variant,,ENST00000592839,;SF3A2,non_coding_transcript_exon_variant,,ENST00000590034,;SF3A2,upstream_gene_variant,,ENST00000587637,;	T	ENST00000221494	Transcript	missense_variant	469/1963	34/1395	12/464	G/W	Ggg/Tgg		1		1	SF3A2	HGNC	HGNC:10766	protein_coding	YES	CCDS12084.1	ENSP00000221494	Q15428		UPI0000135468	NM_007165.4	deleterious_low_confidence(0)		2/9		hmmpanther:PTHR23205,hmmpanther:PTHR23205:SF0																	MODERATE	1	SNV	1			1										PASS		rs1285527225	.												T	3	4	70	2243452	2243452	G	T	1	0	0	0	0	1	0	0	0	14426	1116	39	1		1	SF3A2	19	2243452	Missense_Mutation	SNP	G	C3N-01030_TP		2243452	56374164	688	22865											
NFIC	0	.	GRCh38	chr19	3366644	3366644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccgcgcccgggatgtattCgtccccgctctgcctcaccc	3	8	10	20	6	2	0	1	0	1	0	4	1	3	1	6	1	1	2	6	1	1	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.8C>T	p.Ser3Leu	p.S3L	ENST00000443272	1/11	53	38	15	44	44	0	strelka-varscan-mutect	NFIC,missense_variant,p.Ser3Leu,ENST00000443272,NM_001245002.1;NFIC,missense_variant,p.Ser3Leu,ENST00000341919,NM_005597.3;NFIC,missense_variant,p.Ser3Leu,ENST00000590282,NM_001245004.1;NFIC,intron_variant,,ENST00000589123,NM_205843.2;NFIC,intron_variant,,ENST00000395111,NM_001245005.1;NFIC,intron_variant,,ENST00000586919,;AC005514.2,upstream_gene_variant,,ENST00000623521,;	T	ENST00000443272	Transcript	missense_variant	59/1716	8/1527	3/508	S/L	tCg/tTg		1		1	NFIC	HGNC	HGNC:7786	protein_coding	YES	CCDS59330.1	ENSP00000396843	P08651		UPI000012FFC8	NM_001245002.1	tolerated(0.05)		1/11		PROSITE_profiles:PS51080,hmmpanther:PTHR11492																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	70	3366644	3366644	C	T	1	0	0	0	0	1	0	0	0	10409	893	31	1		1	NFIC	19	3366644	Missense_Mutation	SNP	C	C3N-01030_TP	1123192	3366644	55250972	689	22866											
CREB3L3	0	.	GRCh38	chr19	4157275	4157275	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgatccaagtacctgaagCctctgtgaccatagacctgg	11	9	10	11	0	1	4	0	3	1	1	2	4	2	4	5	1	2	1	5	1	4	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.437C>A	p.Ala146Asp	p.A146D	ENST00000078445	3/10	220	152	68	189	189	0	strelka-varscan-mutect	CREB3L3,missense_variant,p.Ala146Asp,ENST00000078445,NM_032607.2;CREB3L3,missense_variant,p.Ala145Asp,ENST00000595923,NM_001271995.1;CREB3L3,missense_variant,p.Ala146Asp,ENST00000602257,NM_001271996.1;CREB3L3,missense_variant,p.Ala146Asp,ENST00000602147,NM_001271997.1;	A	ENST00000078445	Transcript	missense_variant	584/2618	437/1386	146/461	A/D	gCc/gAc		1		1	CREB3L3	HGNC	HGNC:18855	protein_coding	YES	CCDS12121.1	ENSP00000078445	Q68CJ9		UPI000006FCF0	NM_032607.2	deleterious(0.05)		3/10		hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF98																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	4157275	4157275	C	A	1	0	0	0	0	1	0	0	0	3658	739	26	2		2	CREB3L3	19	4157275	Missense_Mutation	SNP	C	C3N-01030_TP	790631	4157275	54460341	690	22867											
PTPRS	0	.	GRCh38	chr19	5231534	5231534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccccgttgtgcgtttccGgcggcggcgggcgccaactt	2	8	17	14	7	0	0	0	0	0	0	1	0	1	0	4	5	2	2	4	5	1	3	rs758460182		C3N-01030_TP	C3N-01030_NB	G	G																c.1931C>T	p.Pro644Leu	p.P644L	ENST00000587303	13/37	286	248	38	183	183	0	strelka-varscan-mutect	PTPRS,missense_variant,p.Pro644Leu,ENST00000587303,NM_002850.3;PTPRS,missense_variant,p.Pro631Leu,ENST00000588012,NM_130854.2;PTPRS,intron_variant,,ENST00000262963,;PTPRS,intron_variant,,ENST00000592099,NM_130853.2;PTPRS,intron_variant,,ENST00000353284,NM_130855.2;PTPRS,intron_variant,,ENST00000588552,;	A	ENST00000587303	Transcript	missense_variant	2031/6353	1931/5847	644/1948	P/L	cCg/cTg	rs758460182,COSM5364972,COSM5364973	1		-1	PTPRS	HGNC	HGNC:9681	protein_coding	YES	CCDS45930.1	ENSP00000467537	Q13332		UPI000059D63E	NM_002850.3	tolerated(0.28)		13/37		PROSITE_profiles:PS50853,hmmpanther:PTHR19134:SF204,hmmpanther:PTHR19134,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs758460182	.												A	3	1	70	5231534	5231534	G	A	1	0	0	0	0	1	0	0	0	12966	1116	39	1		1	PTPRS	19	5231534	Missense_Mutation	SNP	G	C3N-01030_TP	1074259	5231534	53386082	691	22868											
SAFB	0	.	GRCh38	chr19	5667107	5667107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggactcccgcgatggctgggGgggctatggctctgacaaga	7	7	17	10	2	1	2	0	1	1	1	2	4	2	3	1	6	0	3	1	6	2	1	rs201604799		C3N-01030_TP	C3N-01030_NB	G	G																c.2396G>T	p.Gly799Val	p.G799V	ENST00000588852	18/21	219	160	59	156	156	0	strelka-varscan-mutect	SAFB,missense_variant,p.Gly799Val,ENST00000292123,NM_001320572.1,NM_002967.3;SAFB,missense_variant,p.Gly798Val,ENST00000592224,NM_001201339.1;SAFB,missense_variant,p.Gly799Val,ENST00000588852,NM_001201338.1;SAFB,missense_variant,p.Gly730Val,ENST00000454510,NM_001201340.1;SAFB,downstream_gene_variant,,ENST00000589006,;SAFB,3_prime_UTR_variant,,ENST00000589863,NM_001320571.1;SAFB,non_coding_transcript_exon_variant,,ENST00000591991,;SAFB,non_coding_transcript_exon_variant,,ENST00000592555,;SAFB,downstream_gene_variant,,ENST00000586281,;	T	ENST00000588852	Transcript	missense_variant	2449/2842	2396/2754	799/917	G/V	gGg/gTg	rs201604799	1		1	SAFB	HGNC	HGNC:10520	protein_coding	YES	CCDS59339.1	ENSP00000467423	Q15424		UPI0000E5BE82	NM_001201338.1	deleterious(0.02)		18/21		hmmpanther:PTHR15683:SF6,hmmpanther:PTHR15683																	MODERATE	1	SNV	1			1										PASS		rs201604799	.												T	3	4	70	5667107	5667107	G	T	1	0	0	0	0	1	0	0	0	14065	1232	43	2		2	SAFB	19	5667107	Missense_Mutation	SNP	G	C3N-01030_TP	435573	5667107	52950509	692	22869											
GTF2F1	0	.	GRCh38	chr19	6380682	6380682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgcaggcatctcgctcaCccgcttccctgtgggagtgg	4	9	14	14	2	2	0	1	0	1	0	4	1	3	1	2	4	1	5	2	4	0	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1240G>T	p.Val414Leu	p.V414L	ENST00000394456	12/13	189	132	57	114	114	0	strelka-varscan-mutect	GTF2F1,missense_variant,p.Val414Leu,ENST00000394456,NM_002096.2;GTF2F1,missense_variant,p.Val330Leu,ENST00000593678,;PSPN,upstream_gene_variant,,ENST00000597721,;GTF2F1,downstream_gene_variant,,ENST00000595047,;PSPN,upstream_gene_variant,,ENST00000245810,NM_004158.2;GTF2F1,non_coding_transcript_exon_variant,,ENST00000594213,;GTF2F1,non_coding_transcript_exon_variant,,ENST00000594965,;	A	ENST00000394456	Transcript	missense_variant	1705/2731	1240/1554	414/517	V/L	Gtg/Ttg		1		-1	GTF2F1	HGNC	HGNC:4652	protein_coding	YES	CCDS12165.1	ENSP00000377969	P35269		UPI000007323F	NM_002096.2	tolerated(0.19)		12/13		hmmpanther:PTHR13011,Pfam_domain:PF05793																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	6380682	6380682	C	A	1	0	0	0	0	1	0	0	0	6740	507	18	2		2	GTF2F1	19	6380682	Missense_Mutation	SNP	C	C3N-01030_TP	713575	6380682	52236934	693	22870											
ADGRE1	0	.	GRCh38	chr19	6901957	6901957	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaactactcttgtttctgCaacccaggatttgaatccag	11	12	8	10	0	2	1	0	1	2	0	3	3	3	3	2	2	4	2	2	2	4	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.597C>A	p.Cys199Ter	p.C199*	ENST00000312053	6/21	203	146	57	190	189	1	strelka-varscan-mutect	ADGRE1,stop_gained,p.Cys199Ter,ENST00000312053,NM_001974.4;ADGRE1,stop_gained,p.Cys147Ter,ENST00000381404,NM_001256252.1;ADGRE1,stop_gained,p.Cys199Ter,ENST00000250572,NM_001256253.1;ADGRE1,stop_gained,p.Cys165Ter,ENST00000595026,;ADGRE1,intron_variant,,ENST00000381407,NM_001256254.1;ADGRE1,intron_variant,,ENST00000450315,NM_001256255.1;ADGRE1,downstream_gene_variant,,ENST00000601198,;ADGRE1,downstream_gene_variant,,ENST00000596944,;CTC-312O10.2,downstream_gene_variant,,ENST00000595362,;	A	ENST00000312053	Transcript	stop_gained	634/3128	597/2661	199/886	C/*	tgC/tgA		1		1	ADGRE1	HGNC	HGNC:3336	protein_coding	YES	CCDS12175.1	ENSP00000311545	Q14246		UPI0000203241	NM_001974.4			6/21		PROSITE_profiles:PS50026,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF303,PROSITE_patterns:PS00010,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	6901957	6901957	C	A	1	0	0	0	0	0	1	0	0	359	718	25	2		2	ADGRE1	19	6901957	Nonsense_Mutation	SNP	C	C3N-01030_TP	521275	6901957	51715659	694	22871											
CD209	0	.	GRCh38	chr19	7747321	7747321	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacctgctaagctcttgtAtcctcgagtctgtcggaatc	7	14	8	12	2	3	0	0	0	3	0	7	2	4	1	2	1	3	3	2	1	4	4			C3N-01030_TP	C3N-01030_NB	A	A																c.91T>C	p.Tyr31His	p.Y31H	ENST00000315599	2/7	193	148	45	164	164	0	strelka-varscan-mutect	CD209,missense_variant,p.Tyr31His,ENST00000315599,NM_021155.3;CD209,missense_variant,p.Tyr31His,ENST00000593660,;CD209,missense_variant,p.Tyr31His,ENST00000601951,;CD209,missense_variant,p.Tyr31His,ENST00000394173,NM_001144899.1;CD209,missense_variant,p.Tyr31His,ENST00000354397,NM_001144897.1;CD209,missense_variant,p.Tyr31His,ENST00000315591,NM_001144896.1;CD209,missense_variant,p.Tyr31His,ENST00000601256,;CD209,missense_variant,p.Tyr31His,ENST00000602261,NM_001144895.1;CD209,missense_variant,p.Tyr31His,ENST00000394161,;CD209,intron_variant,,ENST00000204801,NM_001144894.1;CD209,intron_variant,,ENST00000593821,NM_001144893.1;RPL21P129,upstream_gene_variant,,ENST00000491732,;	G	ENST00000315599	Transcript	missense_variant	114/4283	91/1215	31/404	Y/H	Tac/Cac	COSM1200268,COSM1200269	1		-1	CD209	HGNC	HGNC:1641	protein_coding	YES	CCDS12186.1	ENSP00000315477	Q9NNX6		UPI000003422C	NM_021155.3	tolerated(0.49)		2/7													1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1447855974	.												G	3	3	70	7747321	7747321	A	G	1	0	0	0	0	1	0	0	0	2687	449	16	5		5	CD209	19	7747321	Missense_Mutation	SNP	A	C3N-01030_TP	845364	7747321	50870295	695	22872											
PRAM1	0	.	GRCh38	chr19	8499011	8499011	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctttttgggaaaggcgctgGagtcgcgcttcggctcgctg	4	11	15	11	5	0	0	0	0	0	0	3	2	0	2	1	4	0	4	1	4	1	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.797C>G	p.Ser266Cys	p.S266C	ENST00000423345	2/10	278	157	121	201	201	0	strelka-varscan-mutect	PRAM1,missense_variant,p.Ser266Cys,ENST00000423345,NM_032152.4;PRAM1,downstream_gene_variant,,ENST00000600262,;	C	ENST00000423345	Transcript	missense_variant	1318/2667	797/2013	266/670	S/C	tCc/tGc		1		-1	PRAM1	HGNC	HGNC:30091	protein_coding	YES	CCDS45954.2	ENSP00000408342	Q96QH2		UPI00001AE786	NM_032152.4	tolerated(0.18)		2/10		hmmpanther:PTHR16830,hmmpanther:PTHR16830:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	8499011	8499011	G	C	1	0	0	0	0	1	0	0	0	12552	1174	41	4		4	PRAM1	19	8499011	Missense_Mutation	SNP	G	C3N-01030_TP	751690	8499011	50118605	696	22873											
MUC16	0	.	GRCh38	chr19	8936710	8936710	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagttggaatagttatactGgtgtctgtcccagaactagt	11	13	11	6	0	1	2	0	0	1	2	2	3	2	3	1	2	2	2	1	2	6	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.34245C>A	p.=	p.T11415T	ENST00000397910	5/84	259	218	41	262	262	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	synonymous_variant	34449/43816	34245/43524	11415/14507	T	acC/acA		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			5/84		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	70	8936710	8936710	G	T	1	0	0	0	0	0	0	0	1	9972	1335	47	2		2	MUC16	19	8936710	Silent	SNP	G	C3N-01030_TP	437699	8936710	49680906	697	22874											
MUC16	0	.	GRCh38	chr19	8938146	8938146	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccctagaactagtgaccaGagaggtcaccactcctggta	11	8	10	12	0	1	3	1	1	0	2	2	4	2	3	4	2	2	1	4	2	4	3	rs746420551		C3N-01030_TP	C3N-01030_NB	G	G																c.32809C>T	p.=	p.L10937L	ENST00000397910	5/84	237	219	18	203	203	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	A	ENST00000397910	Transcript	synonymous_variant	33013/43816	32809/43524	10937/14507	L	Ctg/Ttg	rs746420551,COSM363816,COSM363817,COSM3933268,COSM3933269	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			5/84		Low_complexity_(Seg):seg											0,1,1,1,1						LOW	1	SNV	5		0,1,1,1,1	1										PASS		rs746420551	.												A	2	1	70	8938146	8938146	G	A	1	0	0	0	0	0	0	0	1	9972	933	33	3		3	MUC16	19	8938146	Silent	SNP	G	C3N-01030_TP	1436	8938146	49679470	698	22875											
OR7E24	0	.	GRCh38	chr19	9252017	9252017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtgcaggctgcatggcaGaatcatcaaatctcatcatc	11	10	8	12	0	4	1	4	0	1	1	6	1	4	1	1	2	2	4	1	2	2	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.974G>A	p.Arg325Lys	p.R325K	ENST00000456448	1/1	159	138	21	152	152	0	strelka-varscan-mutect	OR7E24,missense_variant,p.Arg325Lys,ENST00000456448,NM_001079935.1;	A	ENST00000456448	Transcript	missense_variant	1088/1550	974/1020	325/339	R/K	aGa/aAa		1		1	OR7E24	HGNC	HGNC:8396	protein_coding	YES	CCDS45955.1	ENSP00000387523	Q6IFN5		UPI00003B2886	NM_001079935.1	tolerated(0.2)		1/1		hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF173,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	70	9252017	9252017	G	A	1	0	0	0	0	1	0	0	0	11291	942	33	3		3	OR7E24	19	9252017	Missense_Mutation	SNP	G	C3N-01030_TP	313871	9252017	49365599	699	22876											
ZNF561	0	.	GRCh38	chr19	9610200	9610200	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagatggcaaccgatgggCtaaatggtaacactcatatc	15	9	9	8	1	1	1	1	0	0	1	2	2	1	1	1	3	2	3	1	3	7	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1461G>T	p.Ter487TyrextTer7	p.*487Yext*7	ENST00000302851	6/6	35	23	12	47	47	0	strelka-varscan-mutect	ZNF561,stop_lost,p.Ter487TyrextTer7,ENST00000302851,NM_152289.2;ZNF561,stop_lost,p.Ter418TyrextTer7,ENST00000424629,;ZNF561,3_prime_UTR_variant,,ENST00000326044,;ZNF561,downstream_gene_variant,,ENST00000444611,;ZNF561,downstream_gene_variant,,ENST00000495503,;ZNF561,downstream_gene_variant,,ENST00000465974,;ZNF561,intron_variant,,ENST00000444802,;ZNF561,downstream_gene_variant,,ENST00000443819,;ZNF561,downstream_gene_variant,,ENST00000457965,;ZNF561,downstream_gene_variant,,ENST00000483768,;ZNF561,downstream_gene_variant,,ENST00000494276,;	A	ENST00000302851	Transcript	stop_lost	1825/4693	1461/1461	487/486	*/Y	taG/taT		1		-1	ZNF561	HGNC	HGNC:28684	protein_coding	YES	CCDS12216.2	ENSP00000303915	Q8N587		UPI000037525C	NM_152289.2			6/6																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	9610200	9610200	C	A	1	0	0	0	0	0	0	0	0	18566	808	28	2		2	ZNF561	19	9610200	Nonstop_Mutation	SNP	C	C3N-01030_TP	358183	9610200	49007416	700	22877											
RDH8	0	.	GRCh38	chr19	10018827	10018827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactttttcggagctgtccGtctcgtcaaagctgtgcttc	6	14	9	12	3	2	0	1	0	1	0	6	1	3	1	1	1	4	3	1	1	2	3	rs768005242		C3N-01030_TP	C3N-01030_NB	G	G																c.419G>T	p.Arg140Leu	p.R140L	ENST00000591589	3/6	117	75	42	93	93	0	strelka-varscan-mutect	RDH8,missense_variant,p.Arg140Leu,ENST00000591589,NM_015725.2;RDH8,upstream_gene_variant,,ENST00000587782,;RDH8,intron_variant,,ENST00000589570,;	T	ENST00000591589	Transcript	missense_variant	608/1715	419/996	140/331	R/L	cGt/cTt	rs768005242	1		1	RDH8	HGNC	HGNC:14423	protein_coding	YES	CCDS12223.2	ENSP00000466058		K7ELF7	UPI000059D661	NM_015725.2	deleterious(0)		3/6		hmmpanther:PTHR24322:SF323,hmmpanther:PTHR24322,Pfam_domain:PF00106,PIRSF_domain:PIRSF000095,Gene3D:3.40.50.720,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		rs768005242	.												T	3	4	70	10018827	10018827	G	T	1	0	0	0	0	1	0	0	0	13365	1145	40	1		1	RDH8	19	10018827	Missense_Mutation	SNP	G	C3N-01030_TP	408627	10018827	48598789	701	22878											
DNMT1	0	.	GRCh38	chr19	10166619	10166619	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgtctccatcttcgtcCtcgtcagcctgcacgcctgc	3	13	7	18	4	4	0	1	0	3	0	9	0	5	0	4	0	3	1	4	0	0	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.870G>A	p.=	p.E290E	ENST00000359526	11/41	620	504	116	431	431	0	strelka-varscan-mutect	DNMT1,synonymous_variant,p.=,ENST00000340748,NM_001318730.1,NM_001379.2;DNMT1,synonymous_variant,p.=,ENST00000359526,NM_001130823.1;DNMT1,5_prime_UTR_variant,,ENST00000540357,;DNMT1,3_prime_UTR_variant,,ENST00000592705,NM_001318731.1;DNMT1,non_coding_transcript_exon_variant,,ENST00000589349,;DNMT1,non_coding_transcript_exon_variant,,ENST00000591764,;DNMT1,downstream_gene_variant,,ENST00000586988,;DNMT1,upstream_gene_variant,,ENST00000585920,;	T	ENST00000359526	Transcript	synonymous_variant	1050/5206	870/4899	290/1632	E	gaG/gaA		1		-1	DNMT1	HGNC	HGNC:2976	protein_coding	YES	CCDS45958.1	ENSP00000352516	P26358		UPI000002A823	NM_001130823.1			11/41		Low_complexity_(Seg):seg,hmmpanther:PTHR10629:SF11,hmmpanther:PTHR10629,PIRSF_domain:PIRSF037404																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	10166619	10166619	C	T	1	0	0	0	0	0	0	0	1	4488	680	24	3		3	DNMT1	19	10166619	Silent	SNP	C	C3N-01030_TP	147792	10166619	48450997	702	22879											
ADGRL1	0	.	GRCh38	chr19	14157146	14157146	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgaagatggggcaggcaatCtgcggggagcactgagggtg	9	5	20	7	2	1	2	0	1	1	1	1	4	1	3	0	6	2	3	0	6	2	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2761-1G>C		p.X921_splice	ENST00000340736		267	236	31	197	197	0	strelka-varscan-mutect	ADGRL1,splice_acceptor_variant,,ENST00000340736,NM_001008701.2;ADGRL1,splice_acceptor_variant,,ENST00000361434,NM_014921.4;ADGRL1,upstream_gene_variant,,ENST00000592164,;ADGRL1,upstream_gene_variant,,ENST00000593005,;ADGRL1,downstream_gene_variant,,ENST00000589616,;CTB-55O6.12,intron_variant,,ENST00000588387,;CTB-55O6.12,intron_variant,,ENST00000592086,;CTB-55O6.12,downstream_gene_variant,,ENST00000588658,;ADGRL1,downstream_gene_variant,,ENST00000588677,;	G	ENST00000340736	Transcript	splice_acceptor_variant	-/7853	2761/4425	921/1474				1		-1	ADGRL1	HGNC	HGNC:20973	protein_coding	YES	CCDS32928.1	ENSP00000340688	O94910		UPI000005046A	NM_001008701.2				15/23																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	70	14157146	14157146	C	G	1	0	0	0	0	0	0	1	0	375	927	32	4		4	ADGRL1	19	14157146	Splice_Site	SNP	C	C3N-01030_TP	3990527	14157146	44460470	703	22880											
OR7C2	0	.	GRCh38	chr19	14942407	14942407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggggagactcctcctcaggGcaacgtctctcaaagagggg	9	7	14	11	1	3	2	2	0	1	2	6	3	5	2	2	5	1	1	2	5	2	0	rs774724699		C3N-01030_TP	C3N-01030_NB	G	G																c.919G>T	p.Ala307Ser	p.A307S	ENST00000248072	1/1	96	75	21	78	78	0	strelka-varscan-mutect	OR7C2,missense_variant,p.Ala307Ser,ENST00000248072,NM_012377.1;	T	ENST00000248072	Transcript	missense_variant	919/960	919/960	307/319	A/S	Gca/Tca	rs774724699	1		1	OR7C2	HGNC	HGNC:8374	protein_coding	YES	CCDS12320.1	ENSP00000248072	O60412		UPI0000041E80	NM_012377.1	tolerated_low_confidence(0.15)		1/1		hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF307,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs774724699	.												T	3	4	70	14942407	14942407	G	T	1	0	0	0	0	1	0	0	0	11288	1203	42	2		2	OR7C2	19	14942407	Missense_Mutation	SNP	G	C3N-01030_TP	785261	14942407	43675209	704	22881											
CASP14	0	.	GRCh38	chr19	15056062	15056062	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccctgaaatccaaagcacCctccggaaacggctgtatct	13	7	7	14	2	1	1	0	1	1	0	3	2	3	2	4	2	3	3	4	2	5	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.702C>A	p.=	p.T234T	ENST00000427043	7/7	235	172	63	226	223	3	strelka-varscan-mutect	CASP14,synonymous_variant,p.=,ENST00000427043,NM_012114.2;CASP14,non_coding_transcript_exon_variant,,ENST00000598738,;	A	ENST00000427043	Transcript	synonymous_variant	1010/3241	702/729	234/242	T	acC/acA		1		1	CASP14	HGNC	HGNC:1502	protein_coding	YES	CCDS12323.1	ENSP00000393417	P31944	B2CIS9	UPI0000044176	NM_012114.2			7/7		PROSITE_profiles:PS50207,hmmpanther:PTHR10454:SF131,hmmpanther:PTHR10454,Gene3D:3.40.50.1460,Pfam_domain:PF00656,SMART_domains:SM00115,Superfamily_domains:SSF52129,Prints_domain:PR00376																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	15056062	15056062	C	A	1	0	0	0	0	0	0	0	1	2370	610	22	2		2	CASP14	19	15056062	Silent	SNP	C	C3N-01030_TP	113655	15056062	43561554	705	22882											
TMEM38A	0	.	GRCh38	chr19	16688271	16688271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccatggtgggtcccacaGcggtggtgggccaggagctc	7	6	16	12	1	0	0	0	0	0	0	2	1	1	1	3	6	3	1	3	6	1	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.800G>T	p.Ser267Ile	p.S267I	ENST00000187762	6/6	83	70	13	59	59	0	strelka-varscan-mutect	TMEM38A,missense_variant,p.Ser267Ile,ENST00000187762,NM_024074.1;TMEM38A,intron_variant,,ENST00000599479,;	T	ENST00000187762	Transcript	missense_variant	891/2649	800/900	267/299	S/I	aGc/aTc		1		1	TMEM38A	HGNC	HGNC:28462	protein_coding	YES	CCDS12349.1	ENSP00000187762	Q9H6F2		UPI000006E0B9	NM_024074.1	tolerated(0.1)		6/6		hmmpanther:PTHR12454,hmmpanther:PTHR12454:SF3,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	16688271	16688271	G	T	1	0	0	0	0	1	0	0	0	16636	971	34	2		2	TMEM38A	19	16688271	Missense_Mutation	SNP	G	C3N-01030_TP	1632209	16688271	41929345	706	22883											
UNC13A	0	.	GRCh38	chr19	17658160	17658160	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcgaacagaatattggtgGactgaggcgttgggttgtga	9	10	18	4	2	0	3	0	2	0	1	0	5	0	4	0	5	1	2	0	5	3	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.669C>A	p.=	p.V223V	ENST00000519716	9/44	484	332	152	345	345	0	strelka-varscan-mutect	UNC13A,synonymous_variant,p.=,ENST00000519716,NM_001080421.2;UNC13A,synonymous_variant,p.=,ENST00000551649,;UNC13A,synonymous_variant,p.=,ENST00000552293,;UNC13A,synonymous_variant,p.=,ENST00000550896,;	T	ENST00000519716	Transcript	synonymous_variant	669/9838	669/5112	223/1703	V	gtC/gtA		1		-1	UNC13A	HGNC	HGNC:23150	protein_coding	YES	CCDS46013.2	ENSP00000429562	Q9UPW8		UPI00006C19A7	NM_001080421.2			9/44		hmmpanther:PTHR10480																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	70	17658160	17658160	G	T	1	0	0	0	0	0	0	0	1	17508	1161	41	2		2	UNC13A	19	17658160	Silent	SNP	G	C3N-01030_TP	969889	17658160	40959456	707	22884											
JUND	0	.	GRCh38	chr19	18280447	18280447	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcgcgcggactcagtaCgcgggcacctggtgctgggg	4	5	17	15	6	1	0	1	0	0	0	1	1	1	1	3	5	2	3	3	5	1	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1038G>C	p.=	p.A346A	ENST00000252818	1/1	455	298	157	281	281	0	strelka-varscan-mutect	JUND,synonymous_variant,p.=,ENST00000252818,NM_001286968.1,NM_005354.5;JUND,intron_variant,,ENST00000600972,;MIR3188,upstream_gene_variant,,ENST00000583494,;RPL39P38,downstream_gene_variant,,ENST00000467018,;	G	ENST00000252818	Transcript	synonymous_variant	1176/1863	1038/1044	346/347	A	gcG/gcC		1		-1	JUND	HGNC	HGNC:6206	protein_coding	YES	CCDS32959.1	ENSP00000252818	P17535		UPI00001AE750	NM_001286968.1,NM_005354.5			1/1		hmmpanther:PTHR11462,hmmpanther:PTHR11462:SF7																	LOW	1	SNV				1										PASS		rs1468576035	.												G	2	3	70	18280447	18280447	C	G	1	0	0	0	0	0	0	0	1	7881	523	19	4		4	JUND	19	18280447	Silent	SNP	C	C3N-01030_TP	622287	18280447	40337169	708	22885											
ZNF100	0	.	GRCh38	chr19	21727817	21727817	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagttatcaaacactggttTaatttgttatcatgttcttt	10	20	6	5	0	3	0	2	0	1	0	3	0	3	0	0	1	1	5	0	1	5	8	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.495A>T	p.Leu165Phe	p.L165F	ENST00000358296	5/5	92	65	27	117	117	0	strelka-varscan-mutect	ZNF100,missense_variant,p.Leu165Phe,ENST00000358296,NM_173531.3;ZNF100,missense_variant,p.Leu101Phe,ENST00000305570,;ZNF100,missense_variant,p.Leu164Phe,ENST00000608416,;ZNF100,downstream_gene_variant,,ENST00000594401,;	A	ENST00000358296	Transcript	missense_variant	694/5745	495/1629	165/542	L/F	ttA/ttT		1		-1	ZNF100	HGNC	HGNC:12880	protein_coding	YES	CCDS42538.1	ENSP00000351042	Q8IYN0		UPI00001614AC	NM_173531.3	tolerated(0.08)		5/5		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF131																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	21727817	21727817	T	A	1	0	0	0	0	1	0	0	0	18292	1751	61	4		4	ZNF100	19	21727817	Missense_Mutation	SNP	T	C3N-01030_TP	3447370	21727817	36889799	709	22886											
ZNF492	0	.	GRCh38	chr19	22663825	22663825	+	Missense_Mutation	SNP	C	C	A																															tgttcttattttgcccgagaCctttggccaaagcagggcaa																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.156C>A	p.Asp52Glu	p.D52E	ENST00000456783	4/4	35	26	9	45	45	0	strelka-varscan-mutect	ZNF492,missense_variant,p.Asp52Glu,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	A	ENST00000456783	Transcript	missense_variant	400/4245	156/1596	52/531	D/E	gaC/gaA		1		1	ZNF492	HGNC	HGNC:23707	protein_coding	YES	CCDS46032.1	ENSP00000413660	Q9P255		UPI00001C200B	NM_020855.2	tolerated(0.1)		4/4		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	22663825	22663825	C	A	1	0	0	0	0	1	0	0	0	18516	506	18	2		2	ZNF492	19	22663825	Missense_Mutation	SNP	C	C3N-01030_TP	936008	22663825	35953791	710	22887	482	2									
ZNF492	0	.	GRCh38	chr19	22663826	22663826	+	Missense_Mutation	SNP	C	C	A																															gttcttattttgcccgagacCtttggccaaagcagggcaaa																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.157C>A	p.Leu53Ile	p.L53I	ENST00000456783	4/4	35	26	9	47	47	0	strelka-varscan-mutect	ZNF492,missense_variant,p.Leu53Ile,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	A	ENST00000456783	Transcript	missense_variant	401/4245	157/1596	53/531	L/I	Ctt/Att		1		1	ZNF492	HGNC	HGNC:23707	protein_coding	YES	CCDS46032.1	ENSP00000413660	Q9P255		UPI00001C200B	NM_020855.2	tolerated(0.05)		4/4		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108																	MODERATE	1	SNV	1			1										PASS		rs1359855948	.												A	3	1	70	22663826	22663826	C	A	1	0	0	0	0	1	0	0	0	18516	681	24	2		2	ZNF492	19	22663826	Missense_Mutation	SNP	C	C3N-01030_TP	1	22663826	35953790	711	22888	482	2									
ZNF99	0	.	GRCh38	chr19	22758945	22758945	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagggctgagaaatggttaaAagctttgccacattcttcgc	12	11	10	8	1	1	1	0	1	1	1	2	2	1	1	1	2	2	3	1	2	4	4	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.964T>A	p.Phe322Ile	p.F322I	ENST00000596209	4/4	220	152	68	304	303	1	strelka-varscan-mutect	ZNF99,missense_variant,p.Phe322Ile,ENST00000596209,NM_001080409.2;ZNF99,missense_variant,p.Phe231Ile,ENST00000397104,;	T	ENST00000596209	Transcript	missense_variant	1055/7817	964/2595	322/864	F/I	Ttt/Att		1		-1	ZNF99	HGNC	HGNC:13175	protein_coding	YES	CCDS59369.1	ENSP00000472969	A8MXY4		UPI0000426011	NM_001080409.2	deleterious(0.02)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	22758945	22758945	A	T	1	0	0	0	0	1	0	0	0	18797	14	1	4		4	ZNF99	19	22758945	Missense_Mutation	SNP	A	C3N-01030_TP	95119	22758945	35858671	712	22889											
ZNF99	0	.	GRCh38	chr19	22759541	22759541	+	Frame_Shift_Del	DEL	C	C	-																															aagcttcttcgtgcatcttaCcctcattgacactttcacaa																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.368delG	p.Gly123ValfsTer29	p.G123Vfs*29	ENST00000596209	4/4	96	62	34	156	156	0	sindel-varindel-pindel	ZNF99,frameshift_variant,p.Gly123ValfsTer29,ENST00000596209,NM_001080409.2;ZNF99,frameshift_variant,p.Gly144ValfsTer29,ENST00000397104,;	-	ENST00000596209	Transcript	frameshift_variant	459/7817	368/2595	123/864	G/X	gGt/gt		1		-1	ZNF99	HGNC	HGNC:13175	protein_coding	YES	CCDS59369.1	ENSP00000472969	A8MXY4		UPI0000426011	NM_001080409.2			4/4																			HIGH	1	deletion	5			1										PASS		.	.												-	7	5	70	22759541	22759541	C	-	1	0	1	0	1	0	0	0	0	18797	507	18	0		0	ZNF99	19	22759541	Frame_Shift_Del	DEL	C	C3N-01030_TP	596	22759541	35858075	713	22890											
ZNF536	0	.	GRCh38	chr19	30445608	30445608	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaccaggagtcccagtcGgtgagccgctccaccacgcc	8	5	12	16	3	0	2	0	2	0	0	3	3	2	3	6	2	1	1	6	2	0	0	rs746307749		C3N-01030_TP	C3N-01030_NB	G	G																c.2046G>T	p.=	p.S682S	ENST00000355537	2/5	176	146	30	133	133	0	strelka-varscan-mutect	ZNF536,synonymous_variant,p.=,ENST00000355537,NM_014717.1;ZNF536,synonymous_variant,p.=,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;	T	ENST00000355537	Transcript	synonymous_variant	2193/4945	2046/3903	682/1300	S	tcG/tcT	rs746307749	1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1			2/5		Pfam_domain:PF16606,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5																	LOW	1	SNV	1			1										PASS		rs746307749	.												T	2	4	70	30445608	30445608	G	T	1	0	0	0	0	0	0	0	1	18547	1103	39	1		1	ZNF536	19	30445608	Silent	SNP	G	C3N-01030_TP	7686067	30445608	28172008	714	22891											
PRODH2	0	.	GRCh38	chr19	35803027	35803027	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaccatgaggtggcacatGgggccatggcgggccacgtg	7	5	17	12	2	0	1	0	1	0	0	0	1	0	1	4	6	0	1	4	6	0	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1281C>A	p.=	p.P427P	ENST00000301175	9/11	72	60	12	45	45	0	strelka-varscan-mutect	PRODH2,synonymous_variant,p.=,ENST00000301175,NM_021232.1;PRODH2,synonymous_variant,p.=,ENST00000589835,;PRODH2,synonymous_variant,p.=,ENST00000588266,;PRODH2,non_coding_transcript_exon_variant,,ENST00000587695,;PRODH2,upstream_gene_variant,,ENST00000587808,;	T	ENST00000301175	Transcript	synonymous_variant	1299/1677	1281/1611	427/536	P	ccC/ccA		1		-1	PRODH2	HGNC	HGNC:17325	protein_coding	YES	CCDS12478.1	ENSP00000301175	Q9UF12		UPI000006EE59	NM_021232.1			9/11		hmmpanther:PTHR13914,hmmpanther:PTHR13914:SF5,Pfam_domain:PF01619,Gene3D:3.20.20.220,Superfamily_domains:SSF51730																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	70	35803027	35803027	G	T	1	0	0	0	0	0	0	0	1	12682	1335	47	2		2	PRODH2	19	35803027	Silent	SNP	G	C3N-01030_TP	5357419	35803027	22814589	715	22892											
ZNF569	0	.	GRCh38	chr19	37413691	37413691	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attacatgcataaggtttctCcccagtatgaactttctgat	11	15	6	9	0	2	2	0	2	2	0	3	2	2	2	2	1	3	3	2	1	4	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.967G>T	p.Glu323Ter	p.E323*	ENST00000316950	6/6	81	59	22	118	118	0	strelka-varscan-mutect	ZNF569,stop_gained,p.Glu323Ter,ENST00000316950,NM_152484.2;ZNF569,stop_gained,p.Glu323Ter,ENST00000392149,;ZNF569,stop_gained,p.Glu164Ter,ENST00000392150,;ZNF569,downstream_gene_variant,,ENST00000448051,;ZNF569,downstream_gene_variant,,ENST00000592490,;	A	ENST00000316950	Transcript	stop_gained	1525/4061	967/2061	323/686	E/*	Gag/Tag		1		-1	ZNF569	HGNC	HGNC:24737	protein_coding	YES	CCDS12503.1	ENSP00000325018	Q5MCW4	A0A024R0G4	UPI0000202203	NM_152484.2			6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF68,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	37413691	37413691	C	A	1	0	0	0	0	0	1	0	0	18574	864	30	2		2	ZNF569	19	37413691	Nonsense_Mutation	SNP	C	C3N-01030_TP	1610664	37413691	21203925	716	22893											
ZNF573	0	.	GRCh38	chr19	37771643	37771643	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagggtccaggtattcccaCtcctgccgagagaagtctat	9	11	10	11	1	1	1	0	0	1	1	4	3	4	1	4	2	1	1	4	2	4	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.123G>A	p.=	p.E41E	ENST00000536220	3/5	151	101	50	133	133	0	strelka-varscan-mutect	ZNF573,synonymous_variant,p.=,ENST00000536220,NM_001172691.1,NM_001172690.1;ZNF573,synonymous_variant,p.=,ENST00000590414,;ZNF573,synonymous_variant,p.=,ENST00000588218,;ZNF573,synonymous_variant,p.=,ENST00000378445,;ZNF573,5_prime_UTR_variant,,ENST00000392138,;ZNF573,intron_variant,,ENST00000357309,NM_001172692.1,NM_001172689.1;ZNF573,intron_variant,,ENST00000585724,;ZNF573,non_coding_transcript_exon_variant,,ENST00000494605,;ZNF573,synonymous_variant,p.=,ENST00000589632,;ZNF573,synonymous_variant,p.=,ENST00000586155,;ZNF573,synonymous_variant,p.=,ENST00000489148,;ZNF573,synonymous_variant,p.=,ENST00000591516,;	T	ENST00000536220	Transcript	synonymous_variant	192/2257	123/1998	41/665	E	gaG/gaA		1		-1	ZNF573	HGNC	HGNC:26420	protein_coding	YES	CCDS59381.1	ENSP00000440464	Q86YE8		UPI000059D70C	NM_001172691.1,NM_001172690.1			3/5		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF159,SMART_domains:SM00349																	LOW	1	SNV	3			1										PASS		.	.												T	2	4	70	37771643	37771643	C	T	1	0	0	0	0	0	0	0	1	18579	564	20	3		3	ZNF573	19	37771643	Silent	SNP	C	C3N-01030_TP	357952	37771643	20845973	717	22894											
RYR1	0	.	GRCh38	chr19	38466359	38466359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggccgtgcgcaccctcctgGgctacggctacaacatcgag	8	6	12	15	4	0	0	0	0	0	0	2	1	1	0	3	3	4	3	3	3	3	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.3139G>T	p.Gly1047Cys	p.G1047C	ENST00000359596	24/106	253	208	45	135	134	1	strelka-varscan-mutect	RYR1,missense_variant,p.Gly1047Cys,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Gly1047Cys,ENST00000359596,NM_000540.2;RYR1,non_coding_transcript_exon_variant,,ENST00000594111,;	T	ENST00000359596	Transcript	missense_variant	3139/15117	3139/15117	1047/5038	G/C	Ggc/Tgc		1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2	deleterious(0.03)		24/106		PROSITE_profiles:PS50188,hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF02026																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	38466359	38466359	G	T	1	0	0	0	0	1	0	0	0	14028	1232	43	2		2	RYR1	19	38466359	Missense_Mutation	SNP	G	C3N-01030_TP	694716	38466359	20151257	718	22895											
LIPE	0	.	GRCh38	chr19	42407383	42407383	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcactatcagggaccgcGagcggggtgcctgctggggg	6	6	19	10	3	1	0	1	0	0	0	1	2	1	1	2	5	4	2	2	5	1	1	rs867573767		C3N-01030_TP	C3N-01030_NB	G	G																c.1928C>A	p.Ser643Ter	p.S643*	ENST00000244289	6/10	201	148	53	128	128	0	strelka-varscan-mutect	LIPE,stop_gained,p.Ser643Ter,ENST00000244289,NM_005357.3;LIPE,downstream_gene_variant,,ENST00000599783,;LIPE,upstream_gene_variant,,ENST00000597620,;LIPE,upstream_gene_variant,,ENST00000599918,;LIPE,downstream_gene_variant,,ENST00000597001,;LIPE,downstream_gene_variant,,ENST00000599211,;LIPE,downstream_gene_variant,,ENST00000601189,;LIPE-AS1,intron_variant,,ENST00000594624,;LIPE-AS1,intron_variant,,ENST00000597203,;LIPE-AS1,intron_variant,,ENST00000593491,;LIPE-AS1,intron_variant,,ENST00000599276,;LIPE,downstream_gene_variant,,ENST00000602000,;LIPE,upstream_gene_variant,,ENST00000600224,;	T	ENST00000244289	Transcript	stop_gained	2205/3813	1928/3231	643/1076	S/*	tCg/tAg	rs867573767	1		-1	LIPE	HGNC	HGNC:6621	protein_coding	YES	CCDS12607.1	ENSP00000244289	Q05469		UPI000013CB66	NM_005357.3			6/10		hmmpanther:PTHR23025,hmmpanther:PTHR23025:SF3,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	HIGH	1	SNV	1			1										PASS		rs867573767	.												T	4	4	70	42407383	42407383	G	T	1	0	0	0	0	0	1	0	0	8742	1059	37	1		1	LIPE	19	42407383	Nonsense_Mutation	SNP	G	C3N-01030_TP	3941024	42407383	16210233	719	22896											
PSG1	0	.	GRCh38	chr19	42868266	42868266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaagaatactgtgccggtgGgttagagtccgcagaacagg	11	7	14	9	2	0	3	0	0	0	3	1	3	1	3	3	3	3	2	3	3	5	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1078C>A	p.Pro360Thr	p.P360T	ENST00000312439	5/6	281	251	30	237	237	0	strelka-varscan-mutect	PSG1,missense_variant,p.Pro360Thr,ENST00000244296,NM_006905.2;PSG1,missense_variant,p.Pro360Thr,ENST00000436291,NM_001184825.1;PSG1,missense_variant,p.Pro360Thr,ENST00000595356,NM_001184826.1;PSG1,missense_variant,p.Pro360Thr,ENST00000312439,NM_001297773.1;PSG1,missense_variant,p.Pro267Thr,ENST00000403380,;PSG1,missense_variant,p.Pro267Thr,ENST00000595124,;PSG1,missense_variant,p.Pro188Thr,ENST00000597058,;PSG1,downstream_gene_variant,,ENST00000595930,;PSG1,non_coding_transcript_exon_variant,,ENST00000602039,;	T	ENST00000312439	Transcript	missense_variant	1164/1882	1078/1287	360/428	P/T	Cca/Aca		1		-1	PSG1	HGNC	HGNC:9514	protein_coding	YES	CCDS74380.1	ENSP00000308970	P11464		UPI000006DB43	NM_001297773.1	tolerated(0.56)		5/6		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	42868266	42868266	G	T	1	0	0	0	0	1	0	0	0	12804	1232	43	2		2	PSG1	19	42868266	Missense_Mutation	SNP	G	C3N-01030_TP	460883	42868266	15749350	720	22897											
PSG11	0	.	GRCh38	chr19	43015319	43015319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggacaagtcgaggttctctCctgaatagtaagaggtgact	12	10	12	7	1	1	3	0	2	1	1	4	5	2	4	1	3	0	2	1	3	4	3			C3N-01030_TP	C3N-01030_NB	C	C																c.761G>T	p.Gly254Val	p.G254V	ENST00000320078	4/6	151	120	31	121	121	0	varscan-mutect	PSG11,missense_variant,p.Gly254Val,ENST00000320078,NM_002785.2;PSG11,missense_variant,p.Gly132Val,ENST00000403486,NM_203287.1,NM_001113410.1;PSG11,missense_variant,p.Gly254Val,ENST00000598133,;PSG11,missense_variant,p.Gly132Val,ENST00000306322,;CTC-490G23.6,intron_variant,,ENST00000635495,;PSG11,downstream_gene_variant,,ENST00000595312,;PSG11,upstream_gene_variant,,ENST00000599976,;PSG11,non_coding_transcript_exon_variant,,ENST00000595138,;PSG11,non_coding_transcript_exon_variant,,ENST00000594655,;PSG11,intron_variant,,ENST00000593983,;PSG11,upstream_gene_variant,,ENST00000593994,;PSG11,downstream_gene_variant,,ENST00000597093,;PSG11,downstream_gene_variant,,ENST00000488205,;	A	ENST00000320078	Transcript	missense_variant	901/1575	761/1008	254/335	G/V	gGa/gTa	COSM3535108	1		-1	PSG11	HGNC	HGNC:9516	protein_coding	YES	CCDS12614.2	ENSP00000319140	Q9UQ72		UPI000004EE8C	NM_002785.2	deleterious(0.02)		4/6		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF615,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	70	43015319	43015319	C	A	1	0	0	0	0	1	0	0	0	12805	855	30	2		2	PSG11	19	43015319	Missense_Mutation	SNP	C	C3N-01030_TP	147053	43015319	15602297	721	22898											
PSG9	0	.	GRCh38	chr19	43269419	43269419	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgtgcaggaaggggctgGgaggggccccatggtctctg	5	8	19	9	0	1	0	0	0	1	0	2	2	1	2	2	7	1	2	2	7	1	0	rs768183364		C3N-01030_TP	C3N-01030_NB	G	G																c.13C>G	p.Pro5Ala	p.P5A	ENST00000270077	1/6	246	153	93	171	171	0	strelka-varscan-mutect	PSG9,missense_variant,p.Pro5Ala,ENST00000244293,;PSG9,missense_variant,p.Pro5Ala,ENST00000621109,;PSG9,missense_variant,p.Pro5Ala,ENST00000596730,;PSG9,missense_variant,p.Pro5Ala,ENST00000418820,;PSG9,missense_variant,p.Pro5Ala,ENST00000270077,NM_002784.4;PSG9,missense_variant,p.Pro5Ala,ENST00000593948,NM_001301708.1;PSG9,missense_variant,p.Pro5Ala,ENST00000443718,NM_001301707.1;PSG9,missense_variant,p.Pro5Ala,ENST00000291752,NM_001301709.1;	C	ENST00000270077	Transcript	missense_variant	110/1705	13/1281	5/426	P/A	Cca/Gca	rs768183364	1		-1	PSG9	HGNC	HGNC:9526	protein_coding	YES	CCDS12618.1	ENSP00000270077	Q00887		UPI00001327A5	NM_002784.4	deleterious(0.01)		1/6		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs768183364	.												C	3	2	70	43269419	43269419	G	C	1	0	0	0	0	1	0	0	0	12813	1232	43	4		4	PSG9	19	43269419	Missense_Mutation	SNP	G	C3N-01030_TP	254100	43269419	15348197	722	22899											
SRRM5	0	.	GRCh38	chr19	43613892	43613892	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagaagctccagcgaggagAgagatcacagccgatctaga	14	5	12	10	2	2	4	1	0	1	4	3	8	3	4	2	1	3	1	2	1	3	2	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.1771A>G	p.Arg591Gly	p.R591G	ENST00000607544	3/3	469	312	157	354	354	0	strelka-varscan-mutect	SRRM5,missense_variant,p.Arg591Gly,ENST00000607544,;SRRM5,missense_variant,p.Arg591Gly,ENST00000417606,NM_001145641.1;ZNF428,intron_variant,,ENST00000300811,NM_182498.3;ZNF428,intron_variant,,ENST00000598676,;ZNF428,downstream_gene_variant,,ENST00000595304,;	G	ENST00000607544	Transcript	missense_variant	2093/2698	1771/2148	591/715	R/G	Aga/Gga		1		1	SRRM5	HGNC	HGNC:37248	protein_coding	YES	CCDS46095.1	ENSP00000476253	B3KS81		UPI000059D73E		tolerated(0.07)		3/3		hmmpanther:PTHR39414,hmmpanther:PTHR39414:SF1,Low_complexity_(Seg):seg																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	70	43613892	43613892	A	G	1	0	0	0	0	1	0	0	0	15533	296	11	5		5	SRRM5	19	43613892	Missense_Mutation	SNP	A	C3N-01030_TP	344473	43613892	15003724	723	22900											
ZNF226	0	.	GRCh38	chr19	44176491	44176491	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatcttcaatcccatcAaagagttcatacaggagaga	15	10	6	10	0	5	2	4	0	1	2	6	4	6	3	1	1	1	1	1	1	3	4	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.1229A>T	p.Gln410Leu	p.Q410L	ENST00000590089	7/7	190	125	65	200	200	0	strelka-varscan-mutect	ZNF226,missense_variant,p.Gln410Leu,ENST00000590089,NM_016444.2;ZNF226,missense_variant,p.Gln410Leu,ENST00000454662,NM_001319090.1,NM_001319089.1,NM_001319088.1,NM_001032372.1;ZNF226,missense_variant,p.Gln410Leu,ENST00000337433,NM_001032373.1;ZNF226,3_prime_UTR_variant,,ENST00000588883,;ZNF226,downstream_gene_variant,,ENST00000300823,NM_015919.3;ZNF226,downstream_gene_variant,,ENST00000413984,NM_001032374.1;ZNF226,downstream_gene_variant,,ENST00000589160,;ZNF226,downstream_gene_variant,,ENST00000588795,;ZNF226,downstream_gene_variant,,ENST00000590524,;ZNF226,downstream_gene_variant,,ENST00000585678,;ZNF226,downstream_gene_variant,,ENST00000586914,;ZNF226,downstream_gene_variant,,ENST00000588127,;ZNF226,downstream_gene_variant,,ENST00000586203,;ZNF226,downstream_gene_variant,,ENST00000590578,;ZNF226,downstream_gene_variant,,ENST00000590467,;ZNF226,downstream_gene_variant,,ENST00000586286,;ZNF226,downstream_gene_variant,,ENST00000585560,;ZNF226,downstream_gene_variant,,ENST00000588742,NM_001146220.2;ZNF226,downstream_gene_variant,,ENST00000590759,;	T	ENST00000590089	Transcript	missense_variant	1596/2788	1229/2412	410/803	Q/L	cAa/cTa		1		1	ZNF226	HGNC	HGNC:13019	protein_coding	YES	CCDS46102.1	ENSP00000465121	Q9NYT6	A0A024R0P4	UPI000013C32A	NM_016444.2	deleterious(0.03)		7/7		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF177,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1444059711	.												T	3	4	70	44176491	44176491	A	T	1	0	0	0	0	1	0	0	0	18357	130	5	4		4	ZNF226	19	44176491	Missense_Mutation	SNP	A	C3N-01030_TP	562599	44176491	14441125	724	22901											
SAE1	0	.	GRCh38	chr19	47143558	47143558	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctgaaattgccaagaatCtcatcttggcaggagtgaaa	13	9	12	7	0	2	3	1	2	2	1	3	4	2	4	1	3	1	2	1	3	4	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.163C>G	p.Leu55Val	p.L55V	ENST00000270225	2/9	240	215	25	178	178	0	strelka-varscan-mutect	SAE1,missense_variant,p.Leu55Val,ENST00000413379,NM_001145713.1;SAE1,missense_variant,p.Leu55Val,ENST00000270225,NM_005500.2;SAE1,missense_variant,p.Leu55Val,ENST00000392776,NM_001145714.1;SAE1,missense_variant,p.Leu55Val,ENST00000598840,;SAE1,missense_variant,p.Leu23Val,ENST00000600706,;SAE1,5_prime_UTR_variant,,ENST00000594144,;SAE1,5_prime_UTR_variant,,ENST00000594526,;SAE1,5_prime_UTR_variant,,ENST00000597808,;SAE1,intron_variant,,ENST00000600753,;SAE1,missense_variant,p.Leu55Val,ENST00000414294,;SAE1,3_prime_UTR_variant,,ENST00000596995,;	G	ENST00000270225	Transcript	missense_variant	231/2049	163/1041	55/346	L/V	Ctc/Gtc		1		1	SAE1	HGNC	HGNC:30660	protein_coding	YES	CCDS12696.1	ENSP00000270225	Q9UBE0	A0A024R0R4	UPI0000037725	NM_005500.2	tolerated(0.24)		2/9		Gene3D:3.40.50.720,Pfam_domain:PF00899,Prints_domain:PR01849,hmmpanther:PTHR10953,Superfamily_domains:SSF69572																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	47143558	47143558	C	G	1	0	0	0	0	1	0	0	0	14064	913	32	4		4	SAE1	19	47143558	Missense_Mutation	SNP	C	C3N-01030_TP	2967067	47143558	11474058	725	22902											
GLTSCR1	0	.	GRCh38	chr19	47680184	47680184	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcgtcgccactggtcccGgcgcccaacgtgatcctgca	5	7	12	17	5	0	1	0	1	0	0	4	1	2	1	4	3	2	2	4	3	1	0	rs768646880		C3N-01030_TP	C3N-01030_NB	G	G																c.1014G>T	p.=	p.P338P	ENST00000396720	6/15	107	84	23	74	74	0	strelka-varscan-mutect	GLTSCR1,synonymous_variant,p.=,ENST00000396720,NM_015711.3;GLTSCR1,synonymous_variant,p.=,ENST00000614245,;GLTSCR1,downstream_gene_variant,,ENST00000594866,;CTD-2571L23.8,intron_variant,,ENST00000599924,;	T	ENST00000396720	Transcript	synonymous_variant	1208/5739	1014/4683	338/1560	P	ccG/ccT	rs768646880	1		1	GLTSCR1	HGNC	HGNC:4332	protein_coding	YES	CCDS46134.1	ENSP00000379946	Q9NZM4		UPI00016278EE	NM_015711.3			6/15		hmmpanther:PTHR15572:SF1,hmmpanther:PTHR15572																	LOW	1	SNV	5			1										PASS		rs768646880	.												T	2	4	70	47680184	47680184	G	T	1	0	0	0	0	0	0	0	1	6350	1103	39	1		1	GLTSCR1	19	47680184	Silent	SNP	G	C3N-01030_TP	536626	47680184	10937432	726	22903											
ZNF114	0	.	GRCh38	chr19	48286469	48286469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagaaggattgtcaaactgGggcaacctctgccaacgctc	12	7	10	12	1	2	1	1	0	1	1	3	2	2	2	2	3	4	2	2	3	5	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.845G>T	p.Gly282Val	p.G282V	ENST00000595607	6/6	186	123	63	171	171	0	strelka-varscan-mutect	ZNF114,missense_variant,p.Gly282Val,ENST00000595607,NM_153608.2;ZNF114,missense_variant,p.Gly282Val,ENST00000315849,;ZNF114,missense_variant,p.Gly248Val,ENST00000597695,NM_001301062.1;ZNF114,missense_variant,p.Gly282Val,ENST00000600687,;ZNF114,downstream_gene_variant,,ENST00000595408,;ZNF114,downstream_gene_variant,,ENST00000594024,;ZNF114,downstream_gene_variant,,ENST00000601320,;ZNF114,downstream_gene_variant,,ENST00000598898,;	T	ENST00000595607	Transcript	missense_variant	1339/2478	845/1254	282/417	G/V	gGg/gTg		1		1	ZNF114	HGNC	HGNC:12894	protein_coding	YES	CCDS12713.1	ENSP00000469998	Q8NC26		UPI000007282E	NM_153608.2	tolerated(0.15)		6/6																			MODERATE	1	SNV	1			1										PASS		rs1390137296	.												T	3	4	70	48286469	48286469	G	T	1	0	0	0	0	1	0	0	0	18297	1232	43	2		2	ZNF114	19	48286469	Missense_Mutation	SNP	G	C3N-01030_TP	606285	48286469	10331147	727	22904											
RUVBL2	0	.	GRCh38	chr19	49009847	49009847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgacctgggcaccaagatGattgagtccctgaccaagga	12	7	11	11	1	0	4	0	3	0	1	1	6	1	5	4	2	1	1	4	2	3	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.534G>A	p.Met178Ile	p.M178I	ENST00000595090	7/15	267	253	14	182	182	0	strelka-varscan-mutect	RUVBL2,missense_variant,p.Met178Ile,ENST00000595090,NM_001321191.1,NM_006666.1;RUVBL2,missense_variant,p.Met133Ile,ENST00000601968,;RUVBL2,missense_variant,p.Met133Ile,ENST00000627972,;RUVBL2,downstream_gene_variant,,ENST00000596837,;MIR6798,upstream_gene_variant,,ENST00000612887,;RUVBL2,missense_variant,p.Met178Ile,ENST00000221413,;RUVBL2,3_prime_UTR_variant,,ENST00000596247,;RUVBL2,3_prime_UTR_variant,,ENST00000593570,;RUVBL2,non_coding_transcript_exon_variant,,ENST00000594338,;RUVBL2,non_coding_transcript_exon_variant,,ENST00000594017,;	A	ENST00000595090	Transcript	missense_variant	998/2009	534/1392	178/463	M/I	atG/atA		1		1	RUVBL2	HGNC	HGNC:10475	protein_coding	YES	CCDS42588.1	ENSP00000473172	Q9Y230		UPI0000044738	NM_001321191.1,NM_006666.1	tolerated(0.66)		7/15		Gene3D:3.40.50.300,Pfam_domain:PF06068,hmmpanther:PTHR11093,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	49009847	49009847	G	A	1	0	0	0	0	1	0	0	0	14014	1290	45	3		3	RUVBL2	19	49009847	Missense_Mutation	SNP	G	C3N-01030_TP	723378	49009847	9607769	728	22905											
CCDC155	0	.	GRCh38	chr19	49408991	49408991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctggagatttcacgcCtggaggagcagctgagtcag	9	8	16	8	1	2	3	2	2	0	1	2	6	2	5	1	4	2	3	1	4	0	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1018C>A	p.Leu340Met	p.L340M	ENST00000447857	13/20	221	185	36	153	152	1	strelka-varscan-mutect	CCDC155,missense_variant,p.Leu340Met,ENST00000447857,NM_144688.4;CCDC155,missense_variant,p.Leu304Met,ENST00000600570,;CCDC155,non_coding_transcript_exon_variant,,ENST00000593362,;CCDC155,non_coding_transcript_exon_variant,,ENST00000596130,;CCDC155,non_coding_transcript_exon_variant,,ENST00000596419,;	A	ENST00000447857	Transcript	missense_variant	1223/2378	1018/1689	340/562	L/M	Ctg/Atg		1		1	CCDC155	HGNC	HGNC:26520	protein_coding	YES	CCDS46140.1	ENSP00000404220	Q8N6L0		UPI000006F690	NM_144688.4	deleterious(0)		13/20		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14662,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF341																	MODERATE	1	SNV	1			1										PASS		rs1248113221	.												A	3	1	70	49408991	49408991	C	A	1	0	0	0	0	1	0	0	0	2476	680	24	2		2	CCDC155	19	49408991	Missense_Mutation	SNP	C	C3N-01030_TP	399144	49408991	9208625	729	22906											
PRR12	0	.	GRCh38	chr19	49595844	49595844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactccccggaccagctgcaGgggcagctgtatggggtgca	7	7	15	12	1	0	0	0	0	0	0	1	1	1	1	3	5	5	6	3	5	2	2			C3N-01030_TP	C3N-01030_NB	G	G																c.1509G>A	p.=	p.Q503Q	ENST00000418929	4/14	206	179	27	152	152	0	strelka-varscan-mutect	PRR12,synonymous_variant,p.=,ENST00000418929,NM_020719.1;PRR12,intron_variant,,ENST00000615927,;PRRG2,downstream_gene_variant,,ENST00000246794,NM_000951.2;PRRG2,downstream_gene_variant,,ENST00000543867,;PRRG2,downstream_gene_variant,,ENST00000597121,NM_001316335.1;	A	ENST00000418929	Transcript	synonymous_variant	1521/6955	1509/6111	503/2036	Q	caG/caA	COSM5563784	1		1	PRR12	HGNC	HGNC:29217	protein_coding	YES	CCDS46143.1	ENSP00000394510	Q9ULL5		UPI0001596889	NM_020719.1			4/14		hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF1											1						LOW		SNV	5		1	1										PASS		.	.												A	2	1	70	49595844	49595844	G	A	1	0	0	0	0	0	0	0	1	12719	991	35	3		3	PRR12	19	49595844	Silent	SNP	G	C3N-01030_TP	186853	49595844	9021772	730	22907											
SHANK1	0	.	GRCh38	chr19	50667015	50667015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctggggcaggcgggcCtggtggatgggggtccccag	3	7	21	10	1	0	0	0	0	0	0	1	1	1	1	3	8	2	3	3	8	0	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.4945G>T	p.Gly1649Cys	p.G1649C	ENST00000293441	22/23	46	34	12	53	52	1	strelka-varscan-mutect	SHANK1,missense_variant,p.Gly1649Cys,ENST00000293441,NM_016148.2;SHANK1,missense_variant,p.Gly1657Cys,ENST00000391814,;SHANK1,missense_variant,p.Gly1640Cys,ENST00000359082,;SHANK1,missense_variant,p.Gly1036Cys,ENST00000391813,;SHANK1,upstream_gene_variant,,ENST00000483981,;SHANK1,upstream_gene_variant,,ENST00000468654,;	A	ENST00000293441	Transcript	missense_variant	4964/6643	4945/6486	1649/2161	G/C	Ggc/Tgc		1		-1	SHANK1	HGNC	HGNC:15474	protein_coding	YES	CCDS12799.1	ENSP00000293441	Q9Y566		UPI000013E109	NM_016148.2	tolerated(0.12)		22/23		Low_complexity_(Seg):seg,hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135																	MODERATE	1	SNV	1			1										PASS		rs1348003450	.												A	3	1	70	50667015	50667015	C	A	1	0	0	0	0	1	0	0	0	14523	681	24	2		2	SHANK1	19	50667015	Missense_Mutation	SNP	C	C3N-01030_TP	1071171	50667015	7950601	731	22908											
SHANK1	0	.	GRCh38	chr19	50716914	50716914	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgcttgtcgcggggctgtgGgtcattgtggggccacgggg	2	10	20	9	4	1	0	1	0	0	0	3	0	1	0	1	7	0	2	1	7	0	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.6C>T	p.=	p.T2T	ENST00000293441	1/23	17	14	3	20	20	0	strelka-mutect	SHANK1,synonymous_variant,p.=,ENST00000293441,NM_016148.2;SHANK1,synonymous_variant,p.=,ENST00000391814,;SHANK1,synonymous_variant,p.=,ENST00000359082,;SHANK1,upstream_gene_variant,,ENST00000483128,;	A	ENST00000293441	Transcript	synonymous_variant	25/6643	6/6486	2/2161	T	acC/acT		1		-1	SHANK1	HGNC	HGNC:15474	protein_coding	YES	CCDS12799.1	ENSP00000293441	Q9Y566		UPI000013E109	NM_016148.2			1/23																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	50716914	50716914	G	A	1	0	0	0	0	0	0	0	1	14523	1219	43	3		3	SHANK1	19	50716914	Silent	SNP	G	C3N-01030_TP	49899	50716914	7900702	732	22909											
KLK13	0	.	GRCh38	chr19	51058659	51058659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgttggcacattgtagaGttttggggtaattcactggg	8	14	15	4	0	1	1	1	0	0	1	1	2	1	2	0	5	0	5	0	5	2	7	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.524C>T	p.Thr175Ile	p.T175I	ENST00000595793	4/5	179	137	42	188	188	0	strelka-varscan-mutect	KLK13,missense_variant,p.Thr175Ile,ENST00000595793,NM_015596.1;KLK13,missense_variant,p.Thr102Ile,ENST00000595547,;KLK13,missense_variant,p.Thr23Ile,ENST00000335422,;KLK13,downstream_gene_variant,,ENST00000596955,;KLK13,3_prime_UTR_variant,,ENST00000441527,;KLK13,3_prime_UTR_variant,,ENST00000601975,;KLK13,3_prime_UTR_variant,,ENST00000602090,;KLK13,3_prime_UTR_variant,,ENST00000376799,;KLK13,3_prime_UTR_variant,,ENST00000156476,;	A	ENST00000595793	Transcript	missense_variant	567/927	524/834	175/277	T/I	aCt/aTt		1		-1	KLK13	HGNC	HGNC:6361	protein_coding	YES	CCDS12822.1	ENSP00000470555	Q9UKR3		UPI000004CA07	NM_015596.1	deleterious(0.04)		4/5		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF3,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	51058659	51058659	G	A	1	0	0	0	0	1	0	0	0	8270	1029	36	3		3	KLK13	19	51058659	Missense_Mutation	SNP	G	C3N-01030_TP	341745	51058659	7558957	733	22910											
CD33	0	.	GRCh38	chr19	51225928	51225928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatcttctcctggttgtcaGctgcccccacctccctgggc	3	11	9	18	1	3	0	1	0	2	0	5	1	4	0	5	2	2	2	5	2	0	2	rs776690717		C3N-01030_TP	C3N-01030_NB	G	G																c.544G>T	p.Ala182Ser	p.A182S	ENST00000262262	3/7	371	278	93	230	228	2	strelka-varscan-mutect	CD33,missense_variant,p.Ala55Ser,ENST00000436584,;CD33,missense_variant,p.Ala182Ser,ENST00000262262,NM_001772.3;CD33,missense_variant,p.Ala182Ser,ENST00000391796,NM_001177608.1;CD33,missense_variant,p.Ala55Ser,ENST00000421133,NM_001082618.1;CD33,non_coding_transcript_exon_variant,,ENST00000601785,;CD33,upstream_gene_variant,,ENST00000598473,;	T	ENST00000262262	Transcript	missense_variant	565/1444	544/1095	182/364	A/S	Gct/Tct	rs776690717	1		1	CD33	HGNC	HGNC:1659	protein_coding	YES	CCDS33084.1	ENSP00000262262	P20138	Q546G0	UPI000013D285	NM_001772.3	tolerated(0.06)		3/7		PROSITE_profiles:PS50835,hmmpanther:PTHR12035:SF52,hmmpanther:PTHR12035,Gene3D:2.60.40.10,Pfam_domain:PF00047,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs776690717	.												T	3	4	70	51225928	51225928	G	T	1	0	0	0	0	1	0	0	0	2709	971	34	2		2	CD33	19	51225928	Missense_Mutation	SNP	G	C3N-01030_TP	167269	51225928	7391688	734	22911											
SIGLEC8	0	.	GRCh38	chr19	51452589	51452589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaacagctgggggaggCttcttcagggggttgccatc	6	8	18	9	0	2	0	1	0	1	0	3	1	2	1	1	7	3	4	1	7	1	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1290G>T	p.Lys430Asn	p.K430N	ENST00000321424	7/7	42	29	13	21	21	0	strelka-varscan-mutect	SIGLEC8,missense_variant,p.Lys430Asn,ENST00000321424,NM_014442.2;SIGLEC8,missense_variant,p.Lys321Asn,ENST00000430817,;SIGLEC8,missense_variant,p.Lys337Asn,ENST00000340550,;SIGLEC8,downstream_gene_variant,,ENST00000597352,;	A	ENST00000321424	Transcript	missense_variant	1357/2949	1290/1500	430/499	K/N	aaG/aaT		1		-1	SIGLEC8	HGNC	HGNC:10877	protein_coding	YES	CCDS33086.1	ENSP00000321077	Q9NYZ4		UPI000013598B	NM_014442.2	tolerated(0.47)		7/7		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	51452589	51452589	C	A	1	0	0	0	0	1	0	0	0	14578	796	28	2		2	SIGLEC8	19	51452589	Missense_Mutation	SNP	C	C3N-01030_TP	226661	51452589	7165027	735	22912											
HAS1	0	.	GRCh38	chr19	51717071	51717071	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttaggaagctgacccaGgagtccagagggttaaggat	11	8	14	8	0	0	2	0	1	0	1	1	5	1	5	2	4	2	3	2	4	3	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.825C>A	p.=	p.S275S	ENST00000222115	3/5	445	341	104	307	305	2	strelka-varscan-mutect	HAS1,synonymous_variant,p.=,ENST00000540069,NM_001297436.1;HAS1,synonymous_variant,p.=,ENST00000222115,NM_001523.3;HAS1,synonymous_variant,p.=,ENST00000601714,;HAS1,synonymous_variant,p.=,ENST00000594621,;HAS1,synonymous_variant,p.=,ENST00000601667,;SPACA6,downstream_gene_variant,,ENST00000573896,;	T	ENST00000222115	Transcript	synonymous_variant	860/2087	825/1737	275/578	S	tcC/tcA		1		-1	HAS1	HGNC	HGNC:4818	protein_coding	YES	CCDS12838.1	ENSP00000222115	Q92839		UPI000006D531	NM_001523.3			3/5		hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF4,Gene3D:3.90.550.10,Pfam_domain:PF13641,Superfamily_domains:SSF53448																	LOW	1	SNV	1			1										PASS		rs1232444326	.												T	2	4	70	51717071	51717071	G	T	1	0	0	0	0	0	0	0	1	6847	987	35	2		2	HAS1	19	51717071	Silent	SNP	G	C3N-01030_TP	264482	51717071	6900545	736	22913											
ZNF534	0	.	GRCh38	chr19	52437852	52437852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgtaaggaatatttatgGatgtaagcatgttgagaaat	15	13	11	2	0	0	1	0	1	0	1	0	4	0	3	0	2	2	5	0	2	6	6	rs752468310		C3N-01030_TP	C3N-01030_NB	G	G																c.431G>T	p.Gly144Val	p.G144V	ENST00000332323	4/4	99	74	25	132	131	1	strelka-varscan-mutect	ZNF534,missense_variant,p.Gly144Val,ENST00000332323,NM_001143939.1;ZNF534,missense_variant,p.Gly131Val,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000617900,NM_001291368.1;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;	T	ENST00000332323	Transcript	missense_variant	492/2086	431/2025	144/674	G/V	gGa/gTa	rs752468310	1		1	ZNF534	HGNC	HGNC:26337	protein_coding	YES	CCDS46165.1	ENSP00000327538	Q76KX8		UPI0000351984	NM_001143939.1	tolerated(0.14)		4/4		hmmpanther:PTHR24377:SF187,hmmpanther:PTHR24377																	MODERATE	1	SNV	1			1										PASS		rs752468310	.												T	3	4	70	52437852	52437852	G	T	1	0	0	0	0	1	0	0	0	18546	1174	41	2		2	ZNF534	19	52437852	Missense_Mutation	SNP	G	C3N-01030_TP	720781	52437852	6179764	737	22914											
VN1R4	0	.	GRCh38	chr19	53267173	53267173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcccccagaacagtatcCcaaatcctcgttcactgtga	10	9	6	16	1	1	2	1	1	0	1	5	2	4	2	5	0	1	2	5	0	3	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.493G>A	p.Gly165Arg	p.G165R	ENST00000311170	1/1	112	104	8	105	105	0	varscan-mutect	VN1R4,missense_variant,p.Gly165Arg,ENST00000311170,NM_173857.2;CTD-2245F17.9,downstream_gene_variant,,ENST00000599803,;	T	ENST00000311170	Transcript	missense_variant	551/1048	493/906	165/301	G/R	Gga/Aga		1		-1	VN1R4	HGNC	HGNC:19871	protein_coding	YES	CCDS33099.1	ENSP00000310856	Q7Z5H5		UPI000004B23A	NM_173857.2	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF03402,PROSITE_profiles:PS50262,hmmpanther:PTHR24062,hmmpanther:PTHR24062:SF80,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs1457191324	.												T	3	4	70	53267173	53267173	C	T	1	0	0	0	0	1	0	0	0	17728	632	22	3		3	VN1R4	19	53267173	Missense_Mutation	SNP	C	C3N-01030_TP	829321	53267173	5350443	738	22915											
OSCAR	0	.	GRCh38	chr19	54096987	54096987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccagaaagaattctGccagctcggaggacacatcc	11	7	8	15	1	1	2	0	0	1	2	5	4	4	4	5	2	2	1	5	2	2	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.260C>A	p.Ala87Glu	p.A87E	ENST00000611261	5/6	379	319	60	263	263	0	strelka-varscan-mutect	OSCAR,missense_variant,p.Ala87Glu,ENST00000611261,NM_206818.2;OSCAR,missense_variant,p.Ala83Glu,ENST00000284648,NM_001282349.1;OSCAR,missense_variant,p.Ala72Glu,ENST00000616215,NM_001282350.1;OSCAR,missense_variant,p.Ala87Glu,ENST00000359649,;OSCAR,missense_variant,p.Ala72Glu,ENST00000391761,;OSCAR,missense_variant,p.Ala87Glu,ENST00000617140,NM_130771.4;OSCAR,missense_variant,p.Ala83Glu,ENST00000358375,NM_133169.4;OSCAR,missense_variant,p.Ala72Glu,ENST00000351806,NM_133168.4;OSCAR,missense_variant,p.Ala88Glu,ENST00000616447,;OSCAR,missense_variant,p.Ala87Glu,ENST00000356532,;OSCAR,synonymous_variant,p.=,ENST00000391760,;	T	ENST00000611261	Transcript	missense_variant	452/2061	260/861	87/286	A/E	gCa/gAa		1		-1	OSCAR	HGNC	HGNC:29960	protein_coding	YES	CCDS12876.1	ENSP00000479089		A0A087WV17	UPI00034F23BB	NM_206818.2	deleterious(0.01)		5/6		PROSITE_profiles:PS50835,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	70	54096987	54096987	G	T	1	0	0	0	0	1	0	0	0	11351	1333	46	2		2	OSCAR	19	54096987	Missense_Mutation	SNP	G	C3N-01030_TP	829814	54096987	4520629	739	22916											
LILRA6	0	.	GRCh38	chr19	54240348	54240348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtatgagccgtagcacCtgtaggtccccgcgtgggct	6	9	14	12	3	0	1	0	1	0	0	1	1	1	1	4	2	3	6	4	2	3	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1184G>T	p.Arg395Met	p.R395M	ENST00000396365	6/8	501	433	68	366	366	0	varscan-mutect	LILRA6,missense_variant,p.Arg395Met,ENST00000396365,NM_024318.3;LILRA6,missense_variant,p.Arg395Met,ENST00000245621,;LILRA6,3_prime_UTR_variant,,ENST00000430421,;RPS9,intron_variant,,ENST00000448962,;LILRA6,downstream_gene_variant,,ENST00000270464,;	A	ENST00000396365	Transcript	missense_variant	1224/1890	1184/1446	395/481	R/M	aGg/aTg		1		-1	LILRA6	HGNC	HGNC:15495	protein_coding	YES	CCDS42610.1	ENSP00000379651	Q6PI73	U5XH19	UPI000292EF7A	NM_024318.3	deleterious(0)		6/8		Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF116,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1360077826	.												A	3	1	70	54240348	54240348	C	A	1	0	0	0	0	1	0	0	0	8697	681	24	2		2	LILRA6	19	54240348	Missense_Mutation	SNP	C	C3N-01030_TP	143361	54240348	4377268	740	22917											
LILRB5	0	.	GRCh38	chr19	54254038	54254038	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctggggatccaaccccGtgggggtgaggggctggtcc	5	7	17	12	1	1	1	0	1	1	0	3	2	3	2	4	7	1	1	4	7	1	0	rs531344109		C3N-01030_TP	C3N-01030_NB	G	G																c.1337C>G	p.Thr446Arg	p.T446R	ENST00000449561	8/13	158	105	53	112	112	0	strelka-varscan-mutect	LILRB5,missense_variant,p.Thr445Arg,ENST00000316219,NM_006840.4;LILRB5,missense_variant,p.Thr446Arg,ENST00000449561,NM_001081442.2,NM_001304457.1;LILRB5,missense_variant,p.Thr346Arg,ENST00000345866,NM_001081443.2;LILRB5,non_coding_transcript_exon_variant,,ENST00000621581,;LILRB5,non_coding_transcript_exon_variant,,ENST00000615654,;	C	ENST00000449561	Transcript	missense_variant	1408/2137	1337/1776	446/591	T/R	aCg/aGg	rs531344109	1		-1	LILRB5	HGNC	HGNC:6609	protein_coding	YES	CCDS46176.1	ENSP00000406478	O75023		UPI00034F239B	NM_001081442.2,NM_001304457.1	tolerated(0.42)		8/13																			MODERATE	1	SNV	1			1										PASS		rs531344109	.												C	3	2	70	54254038	54254038	G	C	1	0	0	0	0	1	0	0	0	8702	1145	40	4		4	LILRB5	19	54254038	Missense_Mutation	SNP	G	C3N-01030_TP	13690	54254038	4363578	741	22918											
LILRB1	0	.	GRCh38	chr19	54631635	54631635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagaaaacagcaccctGgattacacggatcccacagg	17	4	9	11	1	0	2	0	0	0	2	1	4	1	4	2	3	3	1	2	3	5	1			C3N-01030_TP	C3N-01030_NB	G	G																c.206G>C	p.Trp69Ser	p.W69S	ENST00000324602	4/15	515	452	63	452	452	0	strelka-varscan-mutect	LILRB1,missense_variant,p.Trp69Ser,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Trp69Ser,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Trp69Ser,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Trp69Ser,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Trp105Ser,ENST00000427581,;LILRB1,missense_variant,p.Trp69Ser,ENST00000396315,;LILRB1,missense_variant,p.Trp69Ser,ENST00000396317,NM_001278398.2;AC009892.10,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480257,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,missense_variant,p.Trp69Ser,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;	C	ENST00000324602	Transcript	missense_variant	371/2774	206/1959	69/652	W/S	tGg/tCg	COSM1722178	1		1	LILRB1	HGNC	HGNC:6605	protein_coding	YES	CCDS42614.1	ENSP00000315997		A0A087WSV6	UPI00034F23AA	NM_001081637.2	deleterious(0.01)		4/15		PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF117,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE		SNV	5		1	1										PASS		.	.												C	3	2	70	54631635	54631635	G	C	1	0	0	0	0	1	0	0	0	8698	1357	47	4		4	LILRB1	19	54631635	Missense_Mutation	SNP	G	C3N-01030_TP	377597	54631635	3985981	742	22919											
LILRB1	0	.	GRCh38	chr19	54636864	54636864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcccagcatctacgccactCtggccatccactagcccagg	8	7	8	18	1	2	0	0	0	2	0	3	0	3	0	5	2	4	1	5	2	2	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1945C>G	p.Leu649Val	p.L649V	ENST00000324602	15/15	154	135	19	112	112	0	strelka-varscan-mutect	LILRB1,missense_variant,p.Leu647Val,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Leu648Val,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Leu648Val,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Leu649Val,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Leu698Val,ENST00000427581,;LILRB1,missense_variant,p.Leu649Val,ENST00000396315,;LILRB1,missense_variant,p.Leu631Val,ENST00000396317,NM_001278398.2;AC009892.10,intron_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,3_prime_UTR_variant,,ENST00000421584,;LILRB1,downstream_gene_variant,,ENST00000480375,;LILRB1,downstream_gene_variant,,ENST00000487425,;	G	ENST00000324602	Transcript	missense_variant	2110/2774	1945/1959	649/652	L/V	Ctg/Gtg		1		1	LILRB1	HGNC	HGNC:6605	protein_coding	YES	CCDS42614.1	ENSP00000315997		A0A087WSV6	UPI00034F23AA	NM_001081637.2	deleterious(0.02)		15/15																			MODERATE		SNV	5			1										PASS		.	.												G	3	3	70	54636864	54636864	C	G	1	0	0	0	0	1	0	0	0	8698	912	32	4		4	LILRB1	19	54636864	Missense_Mutation	SNP	C	C3N-01030_TP	5229	54636864	3980752	743	22920											
KIR3DL3	0	.	GRCh38	chr19	54735320	54735320	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccctttgctatcctcctCttctttctccttcatcgctg	3	18	3	17	1	4	0	1	0	3	0	9	0	7	0	5	0	1	2	5	0	1	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1017C>A	p.=	p.L339L	ENST00000291860	6/8	195	141	54	172	172	0	strelka-varscan-mutect	KIR3DL3,synonymous_variant,p.=,ENST00000291860,NM_153443.4;KIR2DL3,upstream_gene_variant,,ENST00000342376,NM_015868.2;CTB-61M7.1,intron_variant,,ENST00000400864,;	A	ENST00000291860	Transcript	synonymous_variant	1035/1691	1017/1233	339/410	L	ctC/ctA		1		1	KIR3DL3	HGNC	HGNC:16312	protein_coding	YES	CCDS12903.1	ENSP00000291860		A0A0B4J1R5	UPI00005056C3	NM_153443.4			6/8		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11738:SF91,hmmpanther:PTHR11738																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	54735320	54735320	C	A	1	0	0	0	0	0	0	0	1	8186	900	32	2		2	KIR3DL3	19	54735320	Silent	SNP	C	C3N-01030_TP	98456	54735320	3882296	744	22921											
FCAR	0	.	GRCh38	chr19	54889816	54889816	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctggagccaacagatgTgtcagccaggattgaccttt	10	9	12	10	1	1	2	1	1	0	1	1	5	1	4	3	2	4	1	3	2	1	2	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.817T>A	p.Cys273Ser	p.C273S	ENST00000355524	5/5	199	161	38	150	150	0	strelka-varscan-mutect	FCAR,missense_variant,p.Cys273Ser,ENST00000355524,NM_002000.3;FCAR,missense_variant,p.Cys251Ser,ENST00000391725,NM_133269.3;FCAR,missense_variant,p.Cys261Ser,ENST00000359272,NM_133272.3;FCAR,missense_variant,p.Cys239Ser,ENST00000391724,NM_133278.3;FCAR,missense_variant,p.Cys165Ser,ENST00000391726,NM_133273.3;FCAR,missense_variant,p.Cys177Ser,ENST00000345937,NM_133271.3;FCAR,missense_variant,p.Cys164Ser,ENST00000353758,NM_133277.3;FCAR,3_prime_UTR_variant,,ENST00000391723,NM_133274.3;FCAR,downstream_gene_variant,,ENST00000469767,;CTB-61M7.2,upstream_gene_variant,,ENST00000594721,;FCAR,non_coding_transcript_exon_variant,,ENST00000482092,;FCAR,non_coding_transcript_exon_variant,,ENST00000471750,;FCAR,non_coding_transcript_exon_variant,,ENST00000472634,;FCAR,downstream_gene_variant,,ENST00000488066,;	A	ENST00000355524	Transcript	missense_variant	827/1483	817/864	273/287	C/S	Tgt/Agt		1		1	FCAR	HGNC	HGNC:3608	protein_coding	YES	CCDS12907.1	ENSP00000347714	P24071		UPI000011B429	NM_002000.3	tolerated(0.28)		5/5		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF4																	MODERATE	1	SNV	1			1										PASS		rs1261713596	.												A	3	1	70	54889816	54889816	T	A	1	0	0	0	0	1	0	0	0	5636	1696	59	4		4	FCAR	19	54889816	Missense_Mutation	SNP	T	C3N-01030_TP	154496	54889816	3727800	745	22922											
PPP6R1	0	.	GRCh38	chr19	55230815	55230815	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagggctctgggctcttctcCccttctgtggtctggggggg	2	12	16	11	0	5	0	0	0	5	0	6	0	5	0	2	6	0	2	2	6	1	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2529G>T	p.=	p.G843G	ENST00000412770	22/24	133	109	24	119	119	0	strelka-varscan-mutect	PPP6R1,synonymous_variant,p.=,ENST00000412770,NM_014931.3;PPP6R1,synonymous_variant,p.=,ENST00000587283,;TMEM86B,upstream_gene_variant,,ENST00000327042,NM_173804.4;MIR6804,downstream_gene_variant,,ENST00000614724,;PPP6R1,non_coding_transcript_exon_variant,,ENST00000587457,;CTD-2587H24.14,upstream_gene_variant,,ENST00000586923,;TMEM86B,upstream_gene_variant,,ENST00000585416,;TMEM86B,upstream_gene_variant,,ENST00000589190,;	A	ENST00000412770	Transcript	synonymous_variant	3096/3961	2529/2646	843/881	G	ggG/ggT		1		-1	PPP6R1	HGNC	HGNC:29195	protein_coding	YES	CCDS46186.1	ENSP00000414202	Q9UPN7		UPI0000202C6D	NM_014931.3			22/24		hmmpanther:PTHR12634:SF13,hmmpanther:PTHR12634																	LOW	1	SNV	1			1										PASS		rs1164245427	.												A	2	1	70	55230815	55230815	C	A	1	0	0	0	0	0	0	0	1	12534	610	22	2		2	PPP6R1	19	55230815	Silent	SNP	C	C3N-01030_TP	340999	55230815	3386801	746	22923											
ZNF579	0	.	GRCh38	chr19	55578770	55578770	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggtcggtggagtggacCagccggtggcgcgacaggga	6	4	22	9	5	0	0	0	0	0	0	1	4	0	3	2	8	1	0	2	8	0	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.870G>C	p.=	p.L290L	ENST00000325421	2/2	79	50	29	81	81	0	strelka-varscan-mutect	ZNF579,synonymous_variant,p.=,ENST00000325421,NM_152600.2;ZNF579,downstream_gene_variant,,ENST00000592239,;	G	ENST00000325421	Transcript	synonymous_variant	899/2899	870/1689	290/562	L	ctG/ctC		1		-1	ZNF579	HGNC	HGNC:26646	protein_coding	YES	CCDS12927.1	ENSP00000320188	Q8NAF0		UPI0000141657	NM_152600.2			2/2		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF13,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	2			1										PASS		.	.												G	2	3	70	55578770	55578770	C	G	1	0	0	0	0	0	0	0	1	18585	581	21	4		4	ZNF579	19	55578770	Silent	SNP	C	C3N-01030_TP	347955	55578770	3038846	747	22924											
NLRP9	0	.	GRCh38	chr19	55732056	55732056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacacacatgcgaagtgtcGttaaatgttgacaatgcttc	12	11	8	10	2	0	1	0	1	0	0	2	2	0	1	1	0	2	3	1	0	4	3	rs375858611		C3N-01030_TP	C3N-01030_NB	G	G																c.1775C>A	p.Thr592Lys	p.T592K	ENST00000332836	2/9	74	53	21	69	69	0	strelka-varscan-mutect	NLRP9,missense_variant,p.Thr592Lys,ENST00000332836,NM_176820.3;NLRP9,missense_variant,p.Thr592Lys,ENST00000590200,;	T	ENST00000332836	Transcript	missense_variant	1803/3484	1775/2976	592/991	T/K	aCg/aAg	rs375858611	1		-1	NLRP9	HGNC	HGNC:22941	protein_coding	YES	CCDS12934.1	ENSP00000331857	Q7RTR0		UPI00001B6B39	NM_176820.3	tolerated(1)		2/9		hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		rs375858611	.												T	3	4	70	55732056	55732056	G	T	1	0	0	0	0	1	0	0	0	10522	1145	40	1		1	NLRP9	19	55732056	Missense_Mutation	SNP	G	C3N-01030_TP	153286	55732056	2885560	748	22925											
RFPL4A	0	.	GRCh38	chr19	55761804	55761804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctatagacatttgccatgGctgagcacttcaaacagatc	12	12	7	10	0	2	3	1	1	1	2	3	3	2	3	1	1	3	2	1	1	3	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.4G>T	p.Ala2Ser	p.A2S	ENST00000434937	2/3	171	122	49	194	194	0	strelka-varscan-mutect	RFPL4A,missense_variant,p.Ala2Ser,ENST00000434937,NM_001145014.1;	T	ENST00000434937	Transcript	missense_variant	175/1035	4/864	2/287	A/S	Gct/Tct		1		1	RFPL4A	HGNC	HGNC:16449	protein_coding	YES	CCDS46201.1	ENSP00000392936	A6NLU0		UPI0000D6181F	NM_001145014.1	deleterious(0.03)		2/3		hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF228																	MODERATE	1	SNV	5			1										PASS		rs1187737950	.												T	3	4	70	55761804	55761804	G	T	1	0	0	0	0	1	0	0	0	13428	1203	42	2		2	RFPL4A	19	55761804	Missense_Mutation	SNP	G	C3N-01030_TP	29748	55761804	2855812	749	22926											
PEG3	0	.	GRCh38	chr19	56824592	56824592	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaagtcactgtctagctCatacagatttggggcccagg	10	10	11	10	0	4	1	3	0	1	1	4	1	4	1	1	3	2	1	1	3	3	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.64G>T	p.Glu22Ter	p.E22*	ENST00000326441	4/10	99	74	25	95	95	0	strelka-varscan-mutect	PEG3,stop_gained,p.Glu22Ter,ENST00000326441,NM_001146186.1,NM_001146184.1,NM_006210.2;PEG3,stop_gained,p.Glu22Ter,ENST00000599534,;PEG3,stop_gained,p.Glu22Ter,ENST00000599577,;PEG3,stop_gained,p.Glu22Ter,ENST00000594389,;PEG3,5_prime_UTR_variant,,ENST00000600833,;PEG3,intron_variant,,ENST00000598410,NM_001146187.1;PEG3,intron_variant,,ENST00000593695,NM_001146185.1;ZIM2,intron_variant,,ENST00000629319,NM_001146326.1,NM_001146327.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000593711,NM_015363.4;ZIM2,intron_variant,,ENST00000601070,;ZIM2,upstream_gene_variant,,ENST00000593931,;PEG3,intron_variant,,ENST00000594706,;PEG3,intron_variant,,ENST00000596261,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	A	ENST00000326441	Transcript	stop_gained	428/8723	64/4767	22/1588	E/*	Gag/Tag		1		-1	PEG3	HGNC	HGNC:8826	protein_coding	YES	CCDS12948.1	ENSP00000326581	Q9GZU2		UPI000006D36D	NM_001146186.1,NM_001146184.1,NM_006210.2			4/10		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	56824592	56824592	C	A	1	0	0	0	0	0	1	0	0	11808	835	29	2		2	PEG3	19	56824592	Nonsense_Mutation	SNP	C	C3N-01030_TP	1062788	56824592	1793024	750	22927											
SIGLEC1	0	.	GRCh38	chr20	3698002	3698002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagtggccacaacacggtCcttgtggagcagctgcagcc	9	6	14	12	1	0	0	0	0	0	0	1	2	1	2	3	4	5	3	3	4	2	1	rs749370161		C3N-01030_TP	C3N-01030_NB	C	C																c.1918G>T	p.Asp640Tyr	p.D640Y	ENST00000344754	8/21	118	86	32	101	101	0	strelka-varscan-mutect	SIGLEC1,missense_variant,p.Asp640Tyr,ENST00000344754,NM_023068.3;SIGLEC1,upstream_gene_variant,,ENST00000419548,;	A	ENST00000344754	Transcript	missense_variant	1918/6720	1918/5130	640/1709	D/Y	Gac/Tac	rs749370161	1		-1	SIGLEC1	HGNC	HGNC:11127	protein_coding	YES	CCDS13060.1	ENSP00000341141	Q9BZZ2		UPI0000049BA6	NM_023068.3	deleterious(0.01)		8/21		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs749370161	.												A	3	1	70	3698002	3698002	C	A	1	0	0	0	0	1	0	0	0	14569	855	30	2		2	SIGLEC1	20	3698002	Missense_Mutation	SNP	C	C3N-01030_TP		3698002	60746165	751	22928											
HSPA12B	0	.	GRCh38	chr20	3751598	3751598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcggtgctgcagcacgCggtgcaggcggcgctgggcg	4	5	20	12	6	1	0	1	0	0	0	1	0	1	0	0	5	5	5	0	5	0	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1493C>A	p.Ala498Glu	p.A498E	ENST00000254963	13/13	40	27	13	40	40	0	strelka-varscan-mutect	HSPA12B,missense_variant,p.Ala498Glu,ENST00000254963,NM_052970.4,NM_001197327.1;HSPA12B,missense_variant,p.Ala412Glu,ENST00000399701,NM_001318322.1;C20orf27,downstream_gene_variant,,ENST00000379772,NM_001258429.1;C20orf27,downstream_gene_variant,,ENST00000399672,NM_001258430.1;C20orf27,downstream_gene_variant,,ENST00000217195,NM_001039140.2;C20orf27,downstream_gene_variant,,ENST00000399683,;	A	ENST00000254963	Transcript	missense_variant	1638/3151	1493/2061	498/686	A/E	gCg/gAg		1		1	HSPA12B	HGNC	HGNC:16193	protein_coding	YES	CCDS13061.1	ENSP00000254963	Q96MM6		UPI00001285E5	NM_052970.4,NM_001197327.1	tolerated(0.28)		13/13		Gene3D:3.30.420.40,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF39,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	3751598	3751598	C	A	1	0	0	0	0	1	0	0	0	7301	768	27	1		1	HSPA12B	20	3751598	Missense_Mutation	SNP	C	C3N-01030_TP	53596	3751598	60692569	752	22929											
C20orf196	0	.	GRCh38	chr20	5863147	5863147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcggaaatccctggataGattctatgaaatgtttggtc	10	14	9	8	1	1	2	0	1	1	1	4	4	2	4	2	3	0	1	2	3	4	5	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.302G>C	p.Arg101Thr	p.R101T	ENST00000303142	3/3	231	212	19	231	231	0	strelka-varscan-mutect	C20orf196,missense_variant,p.Arg101Thr,ENST00000303142,NM_001303477.1,NM_152504.3;C20orf196,missense_variant,p.Arg148Thr,ENST00000442185,;C20orf196,missense_variant,p.Arg101Thr,ENST00000445603,;	C	ENST00000303142	Transcript	missense_variant	389/1154	302/618	101/205	R/T	aGa/aCa		1		1	C20orf196	HGNC	HGNC:26318	protein_coding	YES	CCDS13091.1	ENSP00000305875	Q8IYI0		UPI0000074251	NM_001303477.1,NM_152504.3	tolerated(0.4)		3/3		Pfam_domain:PF15021,hmmpanther:PTHR36863,hmmpanther:PTHR36863:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	5863147	5863147	G	C	1	0	0	0	0	1	0	0	0	2006	942	33	4		4	C20orf196	20	5863147	Missense_Mutation	SNP	G	C3N-01030_TP	2111549	5863147	58581020	753	22930											
SEL1L2	0	.	GRCh38	chr20	13850236	13850236	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcgtagtttccagtttCatgacggcaaagagcacagg	13	9	11	8	2	1	2	1	1	0	1	2	2	2	2	1	2	2	5	1	2	3	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1563G>T	p.Met521Ile	p.M521I	ENST00000378072	17/18	238	217	21	217	217	0	strelka-varscan-mutect	SEL1L2,missense_variant,p.Met634Ile,ENST00000284951,;SEL1L2,missense_variant,p.Met521Ile,ENST00000378072,NM_001271539.1;SEL1L2,non_coding_transcript_exon_variant,,ENST00000486903,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000482196,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000492548,;SEL1L2,3_prime_UTR_variant,,ENST00000423870,;SEL1L2,3_prime_UTR_variant,,ENST00000475649,;	A	ENST00000378072	Transcript	missense_variant	1645/1892	1563/1728	521/575	M/I	atG/atT		1		-1	SEL1L2	HGNC	HGNC:15897	protein_coding	YES	CCDS59443.1	ENSP00000367312	Q5TEA6		UPI000003BCBF	NM_001271539.1	tolerated_low_confidence(0.06)		17/18		hmmpanther:PTHR11102:SF53,hmmpanther:PTHR11102																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	70	13850236	13850236	C	A	1	0	0	0	0	1	0	0	0	14288	826	29	2		2	SEL1L2	20	13850236	Missense_Mutation	SNP	C	C3N-01030_TP	7987089	13850236	50593931	754	22931											
FLRT3	0	.	GRCh38	chr20	14326965	14326965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatgcgattatcatccaagCgtagttcttctatagtcctg	10	15	7	9	2	3	0	1	0	2	0	5	1	5	0	2	0	2	2	2	0	6	7	rs750841856		C3N-01030_TP	C3N-01030_NB	C	C																c.542G>T	p.Arg181Leu	p.R181L	ENST00000378053	2/2	149	119	30	144	144	0	strelka-varscan-mutect	FLRT3,missense_variant,p.Arg181Leu,ENST00000378053,NM_013281.3;FLRT3,missense_variant,p.Arg181Leu,ENST00000341420,NM_198391.2;MACROD2,intron_variant,,ENST00000217246,NM_080676.5;MACROD2,intron_variant,,ENST00000477147,;MACROD2,intron_variant,,ENST00000494602,;MACROD2,intron_variant,,ENST00000490428,;FLRT3,downstream_gene_variant,,ENST00000462077,;	A	ENST00000378053	Transcript	missense_variant	799/4776	542/1950	181/649	R/L	cGc/cTc	rs750841856	1		-1	FLRT3	HGNC	HGNC:3762	protein_coding	YES	CCDS13121.1	ENSP00000367292	Q9NZU0		UPI0000001BE7	NM_013281.3	deleterious(0)		2/2		PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF4,Pfam_domain:PF13855,Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs750841856	.												A	3	1	70	14326965	14326965	C	A	1	0	0	0	0	1	0	0	0	5796	768	27	1		1	FLRT3	20	14326965	Missense_Mutation	SNP	C	C3N-01030_TP	476729	14326965	50117202	755	22932											
RALGAPA2	0	.	GRCh38	chr20	20605366	20605366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcatcccagagctctcgaGaaatgtacacacagaggttt	13	9	9	10	1	2	3	1	0	1	3	4	4	3	3	1	1	2	3	1	1	2	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1847C>T	p.Ser616Phe	p.S616F	ENST00000202677	15/40	203	151	52	153	153	0	strelka-varscan-mutect	RALGAPA2,missense_variant,p.Ser433Phe,ENST00000430436,;RALGAPA2,missense_variant,p.Ser616Phe,ENST00000202677,NM_020343.3;RALGAPA2,non_coding_transcript_exon_variant,,ENST00000495793,;	A	ENST00000202677	Transcript	missense_variant	1855/6152	1847/5622	616/1873	S/F	tCt/tTt		1		-1	RALGAPA2	HGNC	HGNC:16207	protein_coding	YES	CCDS46584.1	ENSP00000202677	Q2PPJ7		UPI000040F987	NM_020343.3	deleterious(0)		15/40		hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	20605366	20605366	G	A	1	0	0	0	0	1	0	0	0	13173	942	33	3		3	RALGAPA2	20	20605366	Missense_Mutation	SNP	G	C3N-01030_TP	6278401	20605366	43838801	756	22933											
CST9L	0	.	GRCh38	chr20	23568309	23568309	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcaaactccactgtggcagGgaggtaacgagccatgacat	13	6	12	10	1	0	1	0	1	0	0	1	3	1	2	2	3	4	3	2	3	2	1	rs758015425		C3N-01030_TP	C3N-01030_NB	G	G																c.142C>G	p.Pro48Ala	p.P48A	ENST00000376979	1/3	348	281	67	316	316	0	strelka-varscan-mutect	CST9L,missense_variant,p.Pro48Ala,ENST00000376979,NM_080610.2;	C	ENST00000376979	Transcript	missense_variant	441/959	142/444	48/147	P/A	Cct/Gct	rs758015425	1		-1	CST9L	HGNC	HGNC:16233	protein_coding	YES	CCDS13157.1	ENSP00000366178	Q9H4G1	A0A140VJH1	UPI0000038A07	NM_080610.2	tolerated(0.27)		1/3		hmmpanther:PTHR11413:SF22,hmmpanther:PTHR11413,Gene3D:3.10.450.10,Superfamily_domains:SSF54403																	MODERATE	1	SNV	1			1										PASS		rs758015425	.												C	3	2	70	23568309	23568309	G	C	1	0	0	0	0	1	0	0	0	3780	1232	43	4		4	CST9L	20	23568309	Missense_Mutation	SNP	G	C3N-01030_TP	2962943	23568309	40875858	757	22934											
CST2	0	.	GRCh38	chr20	23824048	23824048	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgacacctggaattcaccAgggacattctgtcctcccag	9	10	8	14	0	2	1	1	1	1	0	4	3	4	3	4	2	0	0	4	2	1	3	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.398T>A	p.Leu133Gln	p.L133Q	ENST00000304725	3/3	202	147	55	218	218	0	strelka-varscan-mutect	CST2,missense_variant,p.Leu133Gln,ENST00000304725,NM_001322.2;	T	ENST00000304725	Transcript	missense_variant	469/748	398/426	133/141	L/Q	cTg/cAg		1		-1	CST2	HGNC	HGNC:2474	protein_coding	YES	CCDS13161.1	ENSP00000307540	P09228		UPI0000128D74	NM_001322.2	deleterious(0)		3/3		hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF48,Gene3D:3.10.450.10,SMART_domains:SM00043,Superfamily_domains:SSF54403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	23824048	23824048	A	T	1	0	0	0	0	1	0	0	0	3772	188	7	4		4	CST2	20	23824048	Missense_Mutation	SNP	A	C3N-01030_TP	255739	23824048	40620119	758	22935											
DUSP15	0	.	GRCh38	chr20	31861641	31861641	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcgtcgcggaaggggCtctcgccgaagcgctcctcc	4	7	12	18	6	1	0	0	0	1	0	7	2	4	1	5	3	1	2	5	3	2	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.470G>T	p.Ser157Ile	p.S157I	ENST00000339738	7/7	166	125	41	130	130	0	strelka-varscan-mutect	DUSP15,missense_variant,p.Ser54Ile,ENST00000486996,;DUSP15,missense_variant,p.Ser157Ile,ENST00000339738,NM_080611.3;DUSP15,missense_variant,p.Ser54Ile,ENST00000398084,NM_177991.1;DUSP15,missense_variant,p.Ser54Ile,ENST00000398083,NM_001012644.1;DUSP15,missense_variant,p.Ser154Ile,ENST00000375966,NM_001320478.1;DUSP15,intron_variant,,ENST00000278979,NM_001320479.1;DUSP15,downstream_gene_variant,,ENST00000428829,;DUSP15,downstream_gene_variant,,ENST00000493115,;DUSP15,downstream_gene_variant,,ENST00000459848,;	A	ENST00000339738	Transcript	missense_variant	880/1454	470/708	157/235	S/I	aGc/aTc		1		-1	DUSP15	HGNC	HGNC:16236	protein_coding	YES	CCDS13193.1	ENSP00000341658	Q9H1R2		UPI0000129966	NM_080611.3	tolerated(0.05)		7/7		hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF30,Gene3D:3.90.190.10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	31861641	31861641	C	A	1	0	0	0	0	1	0	0	0	4637	797	28	2		2	DUSP15	20	31861641	Missense_Mutation	SNP	C	C3N-01030_TP	8037593	31861641	32582526	759	22936											
ROMO1	0	.	GRCh38	chr20	35700781	35700781	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttaccaaatagctccatCttggtttcctcctcaggatc	8	15	6	12	0	2	0	1	0	1	0	6	1	5	1	4	2	2	3	4	2	3	5	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.138C>A	p.=	p.I46I	ENST00000374072	3/3	197	175	22	158	158	0	strelka-varscan-mutect	ROMO1,synonymous_variant,p.=,ENST00000374072,;ROMO1,intron_variant,,ENST00000374078,NM_080748.2;ROMO1,intron_variant,,ENST00000336695,;ROMO1,intron_variant,,ENST00000374077,;ROMO1,intron_variant,,ENST00000397416,;NFS1,upstream_gene_variant,,ENST00000374092,NM_021100.4;RBM39,downstream_gene_variant,,ENST00000361162,NM_001323424.1,NM_004902.3;NFS1,upstream_gene_variant,,ENST00000374085,;RBM39,downstream_gene_variant,,ENST00000253363,NM_184234.2;RBM39,downstream_gene_variant,,ENST00000528062,NM_001242600.1,NM_001242599.1;NFS1,upstream_gene_variant,,ENST00000397425,;NFS1,upstream_gene_variant,,ENST00000541387,NM_001198989.1;RBM39,downstream_gene_variant,,ENST00000448303,;NFS1,upstream_gene_variant,,ENST00000306750,;NFS1,upstream_gene_variant,,ENST00000419569,;NFS1,upstream_gene_variant,,ENST00000421540,;RBM39,downstream_gene_variant,,ENST00000470563,;RBM39,downstream_gene_variant,,ENST00000463004,;RBM39,downstream_gene_variant,,ENST00000403542,;RBM39,downstream_gene_variant,,ENST00000338163,;RBM39,downstream_gene_variant,,ENST00000461283,;RBM39,downstream_gene_variant,,ENST00000492779,;RBM39,downstream_gene_variant,,ENST00000429968,;RBM39,downstream_gene_variant,,ENST00000444878,;NFS1,upstream_gene_variant,,ENST00000440385,;RBM39,downstream_gene_variant,,ENST00000482563,;RBM39,downstream_gene_variant,,ENST00000465158,;RBM39,downstream_gene_variant,,ENST00000495293,;RBM39,downstream_gene_variant,,ENST00000476806,;NFS1,upstream_gene_variant,,ENST00000456462,;NFS1,upstream_gene_variant,,ENST00000413203,;RBM39,downstream_gene_variant,,ENST00000496183,;RBM39,downstream_gene_variant,,ENST00000490354,;	A	ENST00000374072	Transcript	synonymous_variant	153/350	138/180	46/59	I	atC/atA		1		1	ROMO1	HGNC	HGNC:16185	protein_coding			ENSP00000363185	P60602		UPI000046FF49				3/3		Low_complexity_(Seg):seg,SMART_domains:SM01378																	LOW		SNV	5			1										PASS		rs996890574	.												A	2	1	70	35700781	35700781	C	A	1	0	0	0	0	0	0	0	1	13699	903	32	2		2	ROMO1	20	35700781	Silent	SNP	C	C3N-01030_TP	3839140	35700781	28743386	760	22937											
PTPRT	0	.	GRCh38	chr20	42315967	42315967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccgtgacttctgaagtCgctcctccttgacaaccagc	7	10	7	17	2	1	3	0	3	1	0	5	3	4	3	5	0	2	1	5	0	2	2	rs766880457		C3N-01030_TP	C3N-01030_NB	C	C																c.1895G>T	p.Arg632Leu	p.R632L	ENST00000373198	12/32	164	121	43	151	151	0	strelka-varscan-mutect	PTPRT,missense_variant,p.Arg632Leu,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Arg632Leu,ENST00000373193,;PTPRT,missense_variant,p.Arg632Leu,ENST00000373201,;PTPRT,missense_variant,p.Arg632Leu,ENST00000373190,;PTPRT,missense_variant,p.Arg632Leu,ENST00000373184,;PTPRT,missense_variant,p.Arg632Leu,ENST00000356100,;PTPRT,missense_variant,p.Arg632Leu,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Arg250Leu,ENST00000612229,;PTPRT,missense_variant,p.Arg248Leu,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	A	ENST00000373198	Transcript	missense_variant	2131/12746	1895/4383	632/1460	R/L	cGa/cTa	rs766880457	1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	deleterious(0.02)		12/32		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208																	MODERATE	1	SNV	2			1										PASS		rs766880457	.												A	3	1	70	42315967	42315967	C	A	1	0	0	0	0	1	0	0	0	12967	884	31	1		1	PTPRT	20	42315967	Missense_Mutation	SNP	C	C3N-01030_TP	6615186	42315967	22128200	761	22938											
SGK2	0	.	GRCh38	chr20	43576228	43576228	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccctctctccccagccgcCcttctacagccaagatgtat	7	10	5	19	1	2	1	0	0	2	1	5	1	4	1	6	0	3	1	6	0	3	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.878C>A	p.Pro293His	p.P293H	ENST00000341458	10/12	79	55	24	71	71	0	strelka-varscan-mutect	SGK2,missense_variant,p.Pro293His,ENST00000341458,NM_016276.3;SGK2,missense_variant,p.Pro233His,ENST00000373100,;SGK2,missense_variant,p.Pro233His,ENST00000423407,NM_001199264.1;SGK2,missense_variant,p.Pro233His,ENST00000373092,NM_170693.2;SGK2,missense_variant,p.Pro259His,ENST00000426287,;SGK2,downstream_gene_variant,,ENST00000412111,;SGK2,missense_variant,p.Pro233His,ENST00000496343,;SGK2,missense_variant,p.Pro233His,ENST00000373077,;	A	ENST00000341458	Transcript	missense_variant	1431/2498	878/1284	293/427	P/H	cCc/cAc		1		1	SGK2	HGNC	HGNC:13900	protein_coding	YES	CCDS13320.1	ENSP00000340608	Q9HBY8		UPI0000033528	NM_016276.3	deleterious(0)		10/12		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF197,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	43576228	43576228	C	A	1	0	0	0	0	1	0	0	0	14468	637	22	2		2	SGK2	20	43576228	Missense_Mutation	SNP	C	C3N-01030_TP	1260261	43576228	20867939	762	22939											
SEMG1	0	.	GRCh38	chr20	45207592	45207592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgacaaaatcacaacgaCatctaggtggaagtcaacaa	19	5	8	9	2	3	1	2	0	1	1	3	4	3	2	0	2	2	0	0	2	7	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.295C>T	p.His99Tyr	p.H99Y	ENST00000372781	2/3	120	90	30	132	132	0	strelka-varscan-mutect	SEMG1,missense_variant,p.His99Tyr,ENST00000372781,NM_003007.3;	T	ENST00000372781	Transcript	missense_variant	352/1662	295/1389	99/462	H/Y	Cat/Tat		1		1	SEMG1	HGNC	HGNC:10742	protein_coding	YES	CCDS13345.1	ENSP00000361867	P04279		UPI0000135844	NM_003007.3	tolerated(0.38)		2/3		hmmpanther:PTHR10547:SF4,hmmpanther:PTHR10547,Pfam_domain:PF05474																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	45207592	45207592	C	T	1	0	0	0	0	1	0	0	0	14320	478	17	3		3	SEMG1	20	45207592	Missense_Mutation	SNP	C	C3N-01030_TP	1631364	45207592	19236575	763	22940											
WFDC2	0	.	GRCh38	chr20	45480016	45480016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcgggaccagtgccaggtgGacagccagtgtcctggccag	7	6	16	12	1	0	0	0	0	0	0	2	2	1	2	5	4	2	0	5	4	0	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.298G>T	p.Asp100Tyr	p.D100Y	ENST00000372676	3/4	282	213	69	213	213	0	strelka-varscan-mutect	WFDC2,missense_variant,p.Asp49Tyr,ENST00000342873,;WFDC2,missense_variant,p.Asp100Tyr,ENST00000372676,NM_006103.3;WFDC2,missense_variant,p.Asp52Tyr,ENST00000339946,;WFDC2,downstream_gene_variant,,ENST00000217425,;WFDC2,non_coding_transcript_exon_variant,,ENST00000488143,;WFDC2,non_coding_transcript_exon_variant,,ENST00000462062,;WFDC2,3_prime_UTR_variant,,ENST00000447118,;	T	ENST00000372676	Transcript	missense_variant	374/614	298/375	100/124	D/Y	Gac/Tac		1		1	WFDC2	HGNC	HGNC:15939	protein_coding	YES	CCDS35501.1	ENSP00000361761	Q14508		UPI000000D8F6	NM_006103.3	deleterious(0.01)		3/4		PROSITE_profiles:PS51390,hmmpanther:PTHR19441,Gene3D:4.10.75.10,Pfam_domain:PF00095,SMART_domains:SM00217,Superfamily_domains:SSF57256																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	45480016	45480016	G	T	1	0	0	0	0	1	0	0	0	17909	1174	41	2		2	WFDC2	20	45480016	Missense_Mutation	SNP	G	C3N-01030_TP	272424	45480016	18964151	764	22941											
SLC13A3	0	.	GRCh38	chr20	46651377	46651377	+	Frame_Shift_Del	DEL	C	C	-																															aacagcagcaccagcagccgCcgcgcgctccacaccttctt																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.45delG	p.Arg16GlyfsTer46	p.R16Gfs*46	ENST00000279027	1/13	127	91	36	86	86	0	sindel-varindel-pindel	SLC13A3,frameshift_variant,p.Arg16GlyfsTer46,ENST00000279027,NM_022829.5;SLC13A3,frameshift_variant,p.Arg16GlyfsTer46,ENST00000413164,NM_001193339.1;SLC13A3,intron_variant,,ENST00000290317,NM_001193342.1,NM_001011554.2;SLC13A3,intron_variant,,ENST00000472148,NM_001193340.1;SLC13A3,intron_variant,,ENST00000468915,;SLC13A3,intron_variant,,ENST00000417157,;SLC13A3,intron_variant,,ENST00000372121,;	-	ENST00000279027	Transcript	frameshift_variant	64/4017	45/1809	15/602	R/X	cgG/cg		1		-1	SLC13A3	HGNC	HGNC:14430	protein_coding	YES	CCDS13400.1	ENSP00000279027	Q8WWT9		UPI000013542F	NM_022829.5			1/13		Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF62,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-TM,Transmembrane_helices:TMhelix																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	70	46651377	46651377	C	-	1	0	1	0	1	0	0	0	0	14658	726	26	0		0	SLC13A3	20	46651377	Frame_Shift_Del	DEL	C	C3N-01030_TP	1171361	46651377	17792790	765	22942											
TPTE	0	.	GRCh38	chr21	10602062	10602062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtgttcattcataggtacTtgataacattacaacagaca	15	13	6	7	0	2	2	2	1	0	1	2	2	2	2	0	1	4	2	0	1	5	7	novel		C3N-01030_TP	C3N-01030_NB	T	T																c.1361T>C	p.Leu454Pro	p.L454P	ENST00000618007	22/24	293	273	20	415	415	0	varscan-mutect	TPTE,missense_variant,p.Leu436Pro,ENST00000622113,NM_199259.3;TPTE,missense_variant,p.Leu454Pro,ENST00000618007,NM_199261.3;TPTE,missense_variant,p.Leu416Pro,ENST00000427445,NM_199260.3;TPTE,missense_variant,p.Leu316Pro,ENST00000612746,NM_001290224.1;AL078471.5,non_coding_transcript_exon_variant,,ENST00000612267,;	C	ENST00000618007	Transcript	missense_variant	1691/2150	1361/1656	454/551	L/P	cTt/cCt		1		1	TPTE	HGNC	HGNC:12023	protein_coding	YES	CCDS74771.1	ENSP00000484403	P56180		UPI000016A18A	NM_199261.3	deleterious(0.02)		22/24		PROSITE_profiles:PS51182,hmmpanther:PTHR12305:SF56,hmmpanther:PTHR12305,Pfam_domain:PF10409,Gene3D:1d5rA02,SMART_domains:SM01326,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	10602062	10602062	T	C	1	0	0	0	0	1	0	0	0	16911	1623	56	5		5	TPTE	21	10602062	Missense_Mutation	SNP	T	C3N-01030_TP		10602062	36107921	766	22943											
LIPI	0	.	GRCh38	chr21	14144660	14144660	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgattttaacatgagactctGgatcttgtatgtgcatgtgg	9	16	11	5	0	2	2	0	2	2	1	2	4	2	3	0	2	2	2	0	2	2	4	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1321C>T	p.Gln441Ter	p.Q441*	ENST00000344577	9/10	107	80	27	150	150	0	strelka-varscan-mutect	LIPI,stop_gained,p.Gln441Ter,ENST00000344577,NM_198996.3;LIPI,stop_gained,p.Gln411Ter,ENST00000536861,NM_001303000.1,NM_001302998.1;LIPI,stop_gained,p.Gln381Ter,ENST00000614229,NM_001302999.1;AP001347.6,downstream_gene_variant,,ENST00000428809,;AP001347.6,downstream_gene_variant,,ENST00000432621,;ERLEC1P1,downstream_gene_variant,,ENST00000433806,;	A	ENST00000344577	Transcript	stop_gained	1347/1652	1321/1446	441/481	Q/*	Cag/Tag		1		-1	LIPI	HGNC	HGNC:18821	protein_coding	YES	CCDS13564.1	ENSP00000343331	Q6XZB0		UPI000462096D	NM_198996.3			9/10		hmmpanther:PTHR11610:SF103,hmmpanther:PTHR11610,PIRSF_domain:PIRSF000865																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	14144660	14144660	G	A	1	0	0	0	0	0	1	0	0	8746	1357	47	3		3	LIPI	21	14144660	Nonsense_Mutation	SNP	G	C3N-01030_TP	3542598	14144660	32565323	767	22944											
KRTAP13-2	0	.	GRCh38	chr21	30372179	30372179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtagtcaccacaggagcggGaggagaagtttccagagcag	12	5	16	8	1	1	2	1	0	0	2	2	5	2	4	2	4	2	3	2	4	2	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.35C>A	p.Ser12Tyr	p.S12Y	ENST00000399889	1/1	88	71	17	78	78	0	strelka-varscan-mutect	KRTAP13-2,missense_variant,p.Ser12Tyr,ENST00000399889,NM_181621.3;MIR4327,downstream_gene_variant,,ENST00000581194,;	T	ENST00000399889	Transcript	missense_variant	79/867	35/528	12/175	S/Y	tCc/tAc		1		-1	KRTAP13-2	HGNC	HGNC:18923	protein_coding	YES	CCDS13589.1	ENSP00000382777	Q52LG2		UPI000003B46A	NM_181621.3	deleterious(0)		1/1		hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF17,Pfam_domain:PF05287																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	70	30372179	30372179	G	T	1	0	0	0	0	1	0	0	0	8406	1174	41	2		2	KRTAP13-2	21	30372179	Missense_Mutation	SNP	G	C3N-01030_TP	16227519	30372179	16337804	768	22945											
TIAM1	0	.	GRCh38	chr21	31251884	31251884	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggtcagcaggatgtcCgactggcccggagagctcag	7	5	17	12	4	2	1	2	0	0	1	3	4	3	2	2	5	2	2	2	5	0	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1269G>T	p.=	p.S423S	ENST00000286827	6/29	262	222	40	154	154	0	strelka-varscan-mutect	TIAM1,synonymous_variant,p.=,ENST00000286827,NM_003253.2;TIAM1,synonymous_variant,p.=,ENST00000541036,;TIAM1,non_coding_transcript_exon_variant,,ENST00000469412,;	A	ENST00000286827	Transcript	synonymous_variant	1741/7200	1269/4776	423/1591	S	tcG/tcT		1		-1	TIAM1	HGNC	HGNC:11805	protein_coding	YES	CCDS13609.1	ENSP00000286827	Q13009		UPI000013DE6F	NM_003253.2			6/29		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF88																	LOW	1	SNV	1			1										PASS		rs1436455799	.												A	2	1	70	31251884	31251884	C	A	1	0	0	0	0	0	0	0	1	16324	639	23	1		1	TIAM1	21	31251884	Silent	SNP	C	C3N-01030_TP	879705	31251884	15458099	769	22946											
URB1	0	.	GRCh38	chr21	32321859	32321859	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaggatgatgtggaagatgCcacgccgggcacacagttcg	11	6	14	10	3	0	2	0	1	0	1	1	4	0	4	2	3	1	2	2	3	1	1	rs866144203		C3N-01030_TP	C3N-01030_NB	C	C																c.5426G>C	p.Gly1809Ala	p.G1809A	ENST00000382751	34/39	264	173	91	162	162	0	strelka-varscan-mutect	URB1,missense_variant,p.Gly1809Ala,ENST00000382751,NM_014825.2;	G	ENST00000382751	Transcript	missense_variant	5542/10832	5426/6816	1809/2271	G/A	gGc/gCc	rs866144203	1		-1	URB1	HGNC	HGNC:17344	protein_coding	YES	CCDS46645.1	ENSP00000372199	O60287		UPI0000185F65	NM_014825.2	tolerated(0.18)		34/39		hmmpanther:PTHR13500,Pfam_domain:PF16201,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs866144203	.												G	3	3	70	32321859	32321859	C	G	1	0	0	0	0	1	0	0	0	17554	739	26	4		4	URB1	21	32321859	Missense_Mutation	SNP	C	C3N-01030_TP	1069975	32321859	14388124	770	22947											
OLIG1	0	.	GRCh38	chr21	33070862	33070862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccgtgctgctggcgcccGgcgccgtaggaccccccgac	3	5	14	19	6	0	0	0	0	0	0	1	2	1	1	6	3	2	4	6	3	1	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.616G>C	p.Gly206Arg	p.G206R	ENST00000382348	1/1	50	45	5	28	28	0	strelka-mutect	OLIG1,missense_variant,p.Gly206Arg,ENST00000382348,NM_138983.2;OLIG1,upstream_gene_variant,,ENST00000426947,;AP000282.2,intron_variant,,ENST00000454622,;OLIG1,upstream_gene_variant,,ENST00000498799,;	C	ENST00000382348	Transcript	missense_variant	719/2277	616/816	206/271	G/R	Ggc/Cgc		1		1	OLIG1	HGNC	HGNC:16983	protein_coding	YES	CCDS42920.2	ENSP00000371785	Q8TAK6		UPI0000130C80	NM_138983.2	deleterious(0.01)		1/1		hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF7,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												C	3	2	70	33070862	33070862	G	C	1	0	0	0	0	1	0	0	0	10935	1116	39	4		4	OLIG1	21	33070862	Missense_Mutation	SNP	G	C3N-01030_TP	749003	33070862	13639121	771	22948											
DSCAM	0	.	GRCh38	chr21	40187244	40187244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catctttgatctcaatttcgGgagggtctgggggctctgtg	5	14	14	8	1	4	1	1	1	4	0	6	2	4	2	0	4	0	1	0	4	1	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2666C>T	p.Pro889Leu	p.P889L	ENST00000400454	14/33	148	112	36	139	139	0	strelka-varscan-mutect	DSCAM,missense_variant,p.Pro889Leu,ENST00000400454,NM_001389.3,NM_001271534.1;DSCAM,missense_variant,p.Pro724Leu,ENST00000617870,;DSCAM,missense_variant,p.Pro641Leu,ENST00000404019,;	A	ENST00000400454	Transcript	missense_variant	3144/8552	2666/6039	889/2012	P/L	cCc/cTc		1		-1	DSCAM	HGNC	HGNC:3039	protein_coding	YES	CCDS42929.1	ENSP00000383303	O60469		UPI00000422DF	NM_001389.3,NM_001271534.1	deleterious(0.01)		14/33		Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	40187244	40187244	G	A	1	0	0	0	0	1	0	0	0	4589	1232	43	3		3	DSCAM	21	40187244	Missense_Mutation	SNP	G	C3N-01030_TP	7116382	40187244	6522739	772	22949											
KRTAP10-7	0	.	GRCh38	chr21	44600797	44600797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcctggtctgcacccCagtgagctatgtgtccagcc	6	9	11	15	0	1	2	0	2	1	0	2	2	2	2	6	1	4	2	6	1	1	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.176C>A	p.Pro59Gln	p.P59Q	ENST00000609664	1/1	406	312	94	299	297	2	strelka-varscan-mutect	KRTAP10-7,missense_variant,p.Pro59Gln,ENST00000609664,NM_198689.2;KRTAP10-7,missense_variant,p.Pro54Gln,ENST00000616689,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;	A	ENST00000609664	Transcript	missense_variant	201/1578	176/1113	59/370	P/Q	cCa/cAa		1		1	KRTAP10-7	HGNC	HGNC:22970	protein_coding	YES	CCDS74803.1	ENSP00000476821	P60409		UPI000021C43E	NM_198689.2	deleterious(0)		1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF72																	MODERATE		SNV				1										PASS		.	.												A	3	1	70	44600797	44600797	C	A	1	0	0	0	0	1	0	0	0	8397	594	21	2		2	KRTAP10-7	21	44600797	Missense_Mutation	SNP	C	C3N-01030_TP	4413553	44600797	2109186	773	22950											
COL6A2	0	.	GRCh38	chr21	46132375	46132375	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacagtctgcacgagtcggcGcactccatgcgcaagcagaa	11	5	12	13	4	1	1	0	0	1	1	3	3	2	1	1	1	3	4	1	1	2	0	rs369756029		C3N-01030_TP	C3N-01030_NB	G	G																c.2883G>A	p.=	p.A961A	ENST00000300527	28/28	226	206	20	161	161	0	strelka-varscan-mutect	COL6A2,synonymous_variant,p.=,ENST00000300527,NM_001849.3;COL6A2,downstream_gene_variant,,ENST00000310645,NM_058175.2;COL6A2,downstream_gene_variant,,ENST00000409416,;COL6A2,downstream_gene_variant,,ENST00000397763,NM_058174.2;FTCD,downstream_gene_variant,,ENST00000397748,NM_001320412.1;FTCD,downstream_gene_variant,,ENST00000291670,NM_006657.2;FTCD,downstream_gene_variant,,ENST00000397746,NM_206965.1;FTCD,downstream_gene_variant,,ENST00000397743,;FTCD,downstream_gene_variant,,ENST00000446405,;FTCD,downstream_gene_variant,,ENST00000498355,;FTCD,downstream_gene_variant,,ENST00000460011,;FTCD,downstream_gene_variant,,ENST00000494498,;FTCD,downstream_gene_variant,,ENST00000483568,;	A	ENST00000300527	Transcript	synonymous_variant	2987/3461	2883/3060	961/1019	A	gcG/gcA	rs369756029	1		1	COL6A2	HGNC	HGNC:2212	protein_coding	YES	CCDS13728.1	ENSP00000300527	P12110		UPI00001AECE0	NM_001849.3			28/28		PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	1			1										PASS		rs369756029	.												A	2	1	70	46132375	46132375	G	A	1	0	0	0	0	0	0	0	1	3489	1074	38	1		1	COL6A2	21	46132375	Silent	SNP	G	C3N-01030_TP	1531578	46132375	577608	774	22951											
MICAL3	0	.	GRCh38	chr22	17818935	17818935	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacgggtggctggggctgCgggctccctggtgagacagg	4	6	20	11	2	0	1	0	1	0	1	1	2	1	1	2	7	1	3	2	7	0	0	rs372011453		C3N-01030_TP	C3N-01030_NB	C	C																c.3726G>T	p.=	p.P1242P	ENST00000441493	26/32	22	17	5	33	33	0	strelka-mutect	MICAL3,synonymous_variant,p.=,ENST00000441493,NM_015241.2;MICAL3,upstream_gene_variant,,ENST00000577821,;MICAL3,downstream_gene_variant,,ENST00000498573,;MICAL3,downstream_gene_variant,,ENST00000578984,;MICAL3,upstream_gene_variant,,ENST00000579997,;MICAL3,upstream_gene_variant,,ENST00000580469,;	A	ENST00000441493	Transcript	synonymous_variant	4079/9445	3726/6009	1242/2002	P	ccG/ccT	rs372011453	1		-1	MICAL3	HGNC	HGNC:24694	protein_coding	YES	CCDS46659.1	ENSP00000416015	Q7RTP6		UPI0001823FDE	NM_015241.2			26/32		Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF239																	LOW	1	SNV	5			1										PASS		rs372011453	.												A	2	1	70	17818935	17818935	C	A	1	0	0	0	0	0	0	0	1	9528	755	27	1		1	MICAL3	22	17818935	Silent	SNP	C	C3N-01030_TP		17818935	32999533	775	22952											
SLC7A4	0	.	GRCh38	chr22	21030178	21030178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaaccagcgactccaggtCcagcagcagtgccaggaagg	11	4	13	13	1	0	1	0	1	0	0	2	3	2	2	4	3	5	2	4	3	2	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1156G>T	p.Asp386Tyr	p.D386Y	ENST00000382932	3/5	304	233	71	220	220	0	strelka-varscan-mutect	SLC7A4,missense_variant,p.Asp386Tyr,ENST00000382932,NM_004173.2;SLC7A4,missense_variant,p.Asp386Tyr,ENST00000403586,;P2RX6,downstream_gene_variant,,ENST00000413302,NM_005446.3;P2RX6,downstream_gene_variant,,ENST00000401443,NM_001159554.1;SLC7A4,downstream_gene_variant,,ENST00000426145,;MIR649,downstream_gene_variant,,ENST00000384843,;AC002472.11,upstream_gene_variant,,ENST00000450652,;P2RX6,downstream_gene_variant,,ENST00000442475,;P2RX6,downstream_gene_variant,,ENST00000432930,;P2RX6,downstream_gene_variant,,ENST00000422210,;P2RX6,downstream_gene_variant,,ENST00000487342,;	A	ENST00000382932	Transcript	missense_variant	1224/2313	1156/1908	386/635	D/Y	Gac/Tac		1		-1	SLC7A4	HGNC	HGNC:11062	protein_coding	YES	CCDS33608.1	ENSP00000372390	O43246		UPI0000169EC7	NM_004173.2	deleterious(0)		3/5		hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF410,Pfam_domain:PF13520																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	70	21030178	21030178	C	A	1	0	0	0	0	1	0	0	0	14982	855	30	2		2	SLC7A4	22	21030178	Missense_Mutation	SNP	C	C3N-01030_TP	3211243	21030178	29788290	776	22953											
VPREB3	0	.	GRCh38	chr22	23753013	23753013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcggggatgtcagcaggccGgtggtgatcctcctccgagc	6	8	15	12	3	1	1	1	1	0	0	5	3	4	2	4	5	2	1	4	5	0	0	rs779221030		C3N-01030_TP	C3N-01030_NB	G	G																c.235C>T	p.Arg79Trp	p.R79W	ENST00000248948	2/2	433	304	129	315	314	1	strelka-varscan-mutect	VPREB3,missense_variant,p.Arg79Trp,ENST00000248948,NM_013378.2;VPREB3,missense_variant,p.Arg63Trp,ENST00000398465,;ZNF70,upstream_gene_variant,,ENST00000341976,NM_021916.3;	A	ENST00000248948	Transcript	missense_variant	340/610	235/372	79/123	R/W	Cgg/Tgg	rs779221030,COSM1270240	1		-1	VPREB3	HGNC	HGNC:12710	protein_coding	YES	CCDS13813.1	ENSP00000248948	Q9UKI3		UPI0000049DEB	NM_013378.2	deleterious(0)		2/2		PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF133,hmmpanther:PTHR23267,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs779221030	.												A	3	1	70	23753013	23753013	G	A	1	0	0	0	0	1	0	0	0	17734	1115	39	1		1	VPREB3	22	23753013	Missense_Mutation	SNP	G	C3N-01030_TP	2722835	23753013	27065455	777	22954											
CABIN1	0	.	GRCh38	chr22	24166795	24166795	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggccagggcccgagccaGgaggcaaagtgggcctcctc	8	3	16	14	1	0	0	0	0	0	0	2	2	1	1	5	5	1	1	5	5	1	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.5164G>C	p.Gly1722Arg	p.G1722R	ENST00000398319	32/37	210	141	69	218	218	0	strelka-varscan-mutect	CABIN1,missense_variant,p.Gly1722Arg,ENST00000398319,NM_001199281.1;CABIN1,missense_variant,p.Gly1722Arg,ENST00000263119,NM_012295.3;CABIN1,missense_variant,p.Gly1672Arg,ENST00000617531,NM_001201429.1;CABIN1,missense_variant,p.Gly1643Arg,ENST00000405822,;CABIN1,missense_variant,p.Gly147Arg,ENST00000337989,;CABIN1,upstream_gene_variant,,ENST00000485008,;CABIN1,downstream_gene_variant,,ENST00000495121,;	C	ENST00000398319	Transcript	missense_variant	5549/7480	5164/6663	1722/2220	G/R	Gga/Cga		1		1	CABIN1	HGNC	HGNC:24187	protein_coding	YES	CCDS13823.1	ENSP00000381364	Q9Y6J0	A0A024R1E5	UPI0000126D6C	NM_001199281.1	tolerated_low_confidence(0.06)		32/37																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	70	24166795	24166795	G	C	1	0	0	0	0	1	0	0	0	2214	1001	35	4		4	CABIN1	22	24166795	Missense_Mutation	SNP	G	C3N-01030_TP	413782	24166795	26651673	778	22955											
ADORA2A	0	.	GRCh38	chr22	24433487	24433487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggcaatgtgctggtgtGctgggccgtgtggctcaaca	5	10	16	10	1	1	0	1	0	0	0	1	0	1	0	2	4	3	4	2	4	2	0	rs763237836		C3N-01030_TP	C3N-01030_NB	G	G																c.83G>T	p.Cys28Phe	p.C28F	ENST00000610595	3/4	171	146	25	161	160	1	strelka-varscan-mutect	ADORA2A,missense_variant,p.Cys28Phe,ENST00000610595,NM_001278497.1;ADORA2A,missense_variant,p.Cys28Phe,ENST00000618076,NM_001278498.1;ADORA2A,missense_variant,p.Cys28Phe,ENST00000337539,NM_000675.5,NM_001278499.1;ADORA2A,missense_variant,p.Cys28Phe,ENST00000611543,NM_001278500.1;ADORA2A,missense_variant,p.Cys28Phe,ENST00000444262,;ADORA2A,missense_variant,p.Cys28Phe,ENST00000486108,;ADORA2A,missense_variant,p.Cys28Phe,ENST00000472248,;ADORA2A,missense_variant,p.Cys28Phe,ENST00000496258,;ADORA2A,missense_variant,p.Cys28Phe,ENST00000436735,;ADORA2A,missense_variant,p.Cys28Phe,ENST00000424232,;ADORA2A,missense_variant,p.Cys28Phe,ENST00000439591,;ADORA2A,downstream_gene_variant,,ENST00000464977,;ADORA2A-AS1,intron_variant,,ENST00000326341,;ADORA2A-AS1,downstream_gene_variant,,ENST00000427813,;ADORA2A,intron_variant,,ENST00000496497,;ADORA2A,downstream_gene_variant,,ENST00000486351,;ADORA2A,downstream_gene_variant,,ENST00000467385,;SPECC1L-ADORA2A,3_prime_UTR_variant,,ENST00000358654,;	T	ENST00000610595	Transcript	missense_variant	713/2736	83/1239	28/412	C/F	tGc/tTc	rs763237836	1		1	ADORA2A	HGNC	HGNC:263	protein_coding	YES	CCDS13826.1	ENSP00000480012		X5DNB4	UPI00000503E2	NM_001278497.1	deleterious(0)		3/4		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR00553,PROSITE_profiles:PS50262,hmmpanther:PTHR24246,hmmpanther:PTHR24246:SF28,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		rs763237836	.												T	3	4	70	24433487	24433487	G	T	1	0	0	0	0	1	0	0	0	402	1319	46	2		2	ADORA2A	22	24433487	Missense_Mutation	SNP	G	C3N-01030_TP	266692	24433487	26384981	779	22956											
OSBP2	0	.	GRCh38	chr22	30741173	30741173	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctacagaaatcagggtgaAatggcccacacgtgccgtgg	11	7	12	11	2	1	2	1	1	0	1	2	2	2	2	3	3	2	0	3	3	3	1	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.657A>T	p.Glu219Asp	p.E219D	ENST00000332585	2/14	91	69	22	95	95	0	strelka-varscan-mutect	OSBP2,missense_variant,p.Glu219Asp,ENST00000332585,NM_030758.3;OSBP2,missense_variant,p.Glu46Asp,ENST00000407373,;OSBP2,missense_variant,p.Glu219Asp,ENST00000446658,NM_001282739.1;OSBP2,missense_variant,p.Glu54Asp,ENST00000438716,NM_001282738.1;OSBP2,5_prime_UTR_variant,,ENST00000403222,;	T	ENST00000332585	Transcript	missense_variant	761/4340	657/2751	219/916	E/D	gaA/gaT		1		1	OSBP2	HGNC	HGNC:8504	protein_coding	YES	CCDS43002.1	ENSP00000332576	Q969R2		UPI0000161E15	NM_030758.3	tolerated(0.06)		2/14		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF51,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	30741173	30741173	A	T	1	0	0	0	0	1	0	0	0	11340	11	1	4		4	OSBP2	22	30741173	Missense_Mutation	SNP	A	C3N-01030_TP	6307686	30741173	20077295	780	22957											
OSBP2	0	.	GRCh38	chr22	30887604	30887604	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggccggccaacccctccaAgagcttcattgagggtgagt	8	7	12	14	2	1	3	1	2	0	1	2	3	2	3	6	3	2	1	6	3	2	2	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.1286A>G	p.Lys429Arg	p.K429R	ENST00000332585	4/14	86	66	20	73	73	0	strelka-varscan-mutect	OSBP2,missense_variant,p.Lys429Arg,ENST00000332585,NM_030758.3;OSBP2,missense_variant,p.Lys150Arg,ENST00000403222,;OSBP2,missense_variant,p.Lys256Arg,ENST00000407373,;OSBP2,missense_variant,p.Lys171Arg,ENST00000437268,NM_001282741.1;OSBP2,missense_variant,p.Lys101Arg,ENST00000431368,;OSBP2,missense_variant,p.Lys429Arg,ENST00000446658,NM_001282739.1;OSBP2,missense_variant,p.Lys60Arg,ENST00000452656,;OSBP2,missense_variant,p.Lys264Arg,ENST00000438716,NM_001282738.1;OSBP2,missense_variant,p.Lys63Arg,ENST00000401475,NM_001282740.1;OSBP2,missense_variant,p.Lys101Arg,ENST00000453621,;OSBP2,missense_variant,p.Lys63Arg,ENST00000424224,;OSBP2,missense_variant,p.Lys101Arg,ENST00000454145,;OSBP2,5_prime_UTR_variant,,ENST00000535268,NM_001282742.1;OSBP2,downstream_gene_variant,,ENST00000445781,;OSBP2,upstream_gene_variant,,ENST00000496575,;	G	ENST00000332585	Transcript	missense_variant	1390/4340	1286/2751	429/916	K/R	aAg/aGg		1		1	OSBP2	HGNC	HGNC:8504	protein_coding	YES	CCDS43002.1	ENSP00000332576	Q969R2		UPI0000161E15	NM_030758.3	tolerated(0.2)		4/14		hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF51																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	70	30887604	30887604	A	G	1	0	0	0	0	1	0	0	0	11340	72	3	5		5	OSBP2	22	30887604	Missense_Mutation	SNP	A	C3N-01030_TP	146431	30887604	19930864	781	22958											
SYN3	0	.	GRCh38	chr22	32596704	32596704	+	Frame_Shift_Del	DEL	C	C	-																															ccagcgtgggcatgtcccagCttgactaccaccgggaagtg																								novel		C3N-01030_TP	C3N-01030_NB	C	C																c.744delG	p.Lys248AsnfsTer59	p.K248Nfs*59	ENST00000358763	7/14	106	71	35	145	145	0	sindel-varindel	SYN3,frameshift_variant,p.Lys248AsnfsTer59,ENST00000358763,NM_001135774.1,NM_003490.3,NM_133633.2;	-	ENST00000358763	Transcript	frameshift_variant	987/3126	744/1743	248/580	K/X	aaG/aa		1		-1	SYN3	HGNC	HGNC:11496	protein_coding	YES	CCDS13908.1	ENSP00000351614	O14994	A0A024R1I8	UPI00001365D3	NM_001135774.1,NM_003490.3,NM_133633.2			7/14		hmmpanther:PTHR10841,Pfam_domain:PF02750,Gene3D:3.30.1490.20,Superfamily_domains:SSF56059																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	70	32596704	32596704	C	-	1	0	1	0	1	0	0	0	0	15832	796	28	0		0	SYN3	22	32596704	Frame_Shift_Del	DEL	C	C3N-01030_TP	1709100	32596704	18221764	782	22959	483	2									
SYN3	0	.	GRCh38	chr22	32596705	32596705	+	Missense_Mutation	SNP	T	T	A																															cagcgtgggcatgtcccagcTtgactaccaccgggaagtgt																								novel		C3N-01030_TP	C3N-01030_NB	T	T																c.743A>T	p.Lys248Met	p.K248M	ENST00000358763	7/14	115	74	41	143	143	0	strelka-mutect	SYN3,missense_variant,p.Lys248Met,ENST00000358763,NM_001135774.1,NM_003490.3,NM_133633.2;	A	ENST00000358763	Transcript	missense_variant	986/3126	743/1743	248/580	K/M	aAg/aTg		1		-1	SYN3	HGNC	HGNC:11496	protein_coding	YES	CCDS13908.1	ENSP00000351614	O14994	A0A024R1I8	UPI00001365D3	NM_001135774.1,NM_003490.3,NM_133633.2	deleterious(0)		7/14		hmmpanther:PTHR10841,Pfam_domain:PF02750,Gene3D:3.30.1490.20,Superfamily_domains:SSF56059																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	70	32596705	32596705	T	A	1	0	0	0	0	1	0	0	0	15832	1609	56	4		4	SYN3	22	32596705	Missense_Mutation	SNP	T	C3N-01030_TP	1	32596705	18221763	783	22960	483	2									
CACNA1I	0	.	GRCh38	chr22	39679418	39679418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgacaccgagggcggcttGtgccggcgctgctactcgcc	4	6	16	15	6	0	0	0	0	0	0	1	2	0	0	3	4	3	3	3	4	1	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.5367G>T	p.Leu1789Phe	p.L1789F	ENST00000402142	32/37	54	33	21	58	58	0	varscan-mutect	CACNA1I,missense_variant,p.Leu1789Phe,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Leu1754Phe,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Leu1789Phe,ENST00000401624,;CACNA1I,missense_variant,p.Leu1754Phe,ENST00000407673,;	T	ENST00000402142	Transcript	missense_variant	5367/10004	5367/6672	1789/2223	L/F	ttG/ttT		1		1	CACNA1I	HGNC	HGNC:1396	protein_coding	YES	CCDS46710.1	ENSP00000385019	Q9P0X4		UPI000012727D	NM_021096.3	tolerated(0.12)		32/37		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF209																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	39679418	39679418	G	T	1	0	0	0	0	1	0	0	0	2234	1368	48	2		2	CACNA1I	22	39679418	Missense_Mutation	SNP	G	C3N-01030_TP	7082713	39679418	11139050	784	22961											
MXRA5	0	.	GRCh38	chrX	3321723	3321723	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaatttcttttccatctGatgtgggtttatatgtgact	7	20	7	7	0	2	2	0	2	2	0	3	2	3	2	2	1	0	1	2	1	3	7			C3N-01030_TP	C3N-01030_NB	G	G																c.3962C>A	p.Ser1321Ter	p.S1321*	ENST00000217939	5/7	64	29	35	63	63	0	strelka-varscan-mutect	MXRA5,stop_gained,p.Ser1321Ter,ENST00000217939,NM_015419.3;	T	ENST00000217939	Transcript	stop_gained	4117/9793	3962/8487	1321/2828	S/*	tCa/tAa	COSM4981446,COSM4981447	1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3			5/7		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF680											1,1						HIGH	1	SNV	5		1,1	1										PASS		.	.												T	4	4	70	3321723	3321723	G	T	1	0	0	0	0	0	1	0	0	10002	1294	45	2		2	MXRA5	23	3321723	Nonsense_Mutation	SNP	G	C3N-01030_TP		3321723	152719172	785	22962											
VCX	0	.	GRCh38	chrX	7843263	7843263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccacggaggcaggaaagagGaagtcctcctctcagccgag	11	4	14	12	2	1	1	1	0	1	1	4	5	3	4	4	4	1	1	4	4	2	0	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.60G>A	p.=	p.R20R	ENST00000381059	2/3	135	91	44	79	79	0	strelka-varscan-mutect	VCX,synonymous_variant,p.=,ENST00000381059,NM_013452.2;VCX,synonymous_variant,p.=,ENST00000620630,;VCX,synonymous_variant,p.=,ENST00000341408,;	A	ENST00000381059	Transcript	synonymous_variant	279/967	60/621	20/206	R	agG/agA		1		1	VCX	HGNC	HGNC:12667	protein_coding	YES	CCDS14128.1	ENSP00000370447	Q9H320		UPI0000138291	NM_013452.2			2/3		Pfam_domain:PF15231,hmmpanther:PTHR15251,hmmpanther:PTHR15251:SF0,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	7843263	7843263	G	A	1	0	0	0	0	0	0	0	1	17688	1165	41	3		3	VCX	23	7843263	Silent	SNP	G	C3N-01030_TP	4521540	7843263	148197632	786	22963											
SHROOM2	0	.	GRCh38	chrX	9895140	9895140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccagtaggctgcaggcctCtctgtccagctcagatgtgc	6	11	11	13	0	2	1	1	0	1	1	5	1	4	1	3	2	3	4	3	2	1	2			C3N-01030_TP	C3N-01030_NB	C	C																c.1232C>T	p.Ser411Phe	p.S411F	ENST00000380913	4/10	94	46	48	92	92	0	strelka-varscan-mutect	SHROOM2,missense_variant,p.Ser411Phe,ENST00000380913,NM_001649.2;SHROOM2,upstream_gene_variant,,ENST00000493668,;	T	ENST00000380913	Transcript	missense_variant	1322/7447	1232/4851	411/1616	S/F	tCt/tTt	COSM1126539	1		1	SHROOM2	HGNC	HGNC:630	protein_coding	YES	CCDS14135.1	ENSP00000370299	Q13796		UPI0000125D05	NM_001649.2	deleterious(0)		4/10		Low_complexity_(Seg):seg,hmmpanther:PTHR15012:SF8,hmmpanther:PTHR15012											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	70	9895140	9895140	C	T	1	0	0	0	0	1	0	0	0	14557	913	32	3		3	SHROOM2	23	9895140	Missense_Mutation	SNP	C	C3N-01030_TP	2051877	9895140	146145755	787	22964											
PHEX	0	.	GRCh38	chrX	22096980	22096980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gattccacatgaaaaccgaaCcagcgaggccatgtacaaca	16	5	8	12	2	0	1	0	1	0	0	1	4	1	1	4	1	5	1	4	1	5	2	rs768862054		C3N-01030_TP	C3N-01030_NB	C	C																c.875C>G	p.Thr292Ser	p.T292S	ENST00000379374	8/22	129	81	48	184	184	0	strelka-varscan-mutect	PHEX,missense_variant,p.Thr292Ser,ENST00000379374,NM_001282754.1,NM_000444.5;PHEX,non_coding_transcript_exon_variant,,ENST00000475778,;	G	ENST00000379374	Transcript	missense_variant	1440/6172	875/2250	292/749	T/S	aCc/aGc	rs768862054,COSM756523	1		1	PHEX	HGNC	HGNC:8918	protein_coding	YES	CCDS14204.1	ENSP00000368682	P78562		UPI0000033C42	NM_001282754.1,NM_000444.5	tolerated(0.74)		8/22		Pfam_domain:PF05649,hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF149,Superfamily_domains:SSF55486											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs768862054	.												G	3	3	70	22096980	22096980	C	G	1	0	0	0	0	1	0	0	0	11908	507	18	4		4	PHEX	23	22096980	Missense_Mutation	SNP	C	C3N-01030_TP	12201840	22096980	133943915	788	22965											
PPP4R3CP	0	.	GRCh38	chrX	27461589	27461589	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtaattattataagcttCatcattaaggcaaatcatcc	15	14	5	7	0	3	0	3	0	0	0	4	1	4	0	1	1	1	3	1	1	6	6	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1708G>T	p.Glu570Ter	p.E570*	ENST00000412172	1/1	77	43	34	119	118	1	strelka-varscan-mutect	PPP4R3CP,stop_gained,p.Glu570Ter,ENST00000412172,;	A	ENST00000412172	Transcript	stop_gained	1753/3131	1708/2499	570/832	E/*	Gaa/Taa		1		-1	PPP4R3CP	HGNC	HGNC:33146	protein_coding	YES		ENSP00000489770			UPI0000D61D3F				1/1		hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF5,Superfamily_domains:SSF48371																	HIGH	1	SNV				1										PASS		.	.												A	4	1	70	27461589	27461589	C	A	1	0	0	0	0	0	1	0	0	12529	835	29	2		2	PPP4R3CP	23	27461589	Nonsense_Mutation	SNP	C	C3N-01030_TP	5364609	27461589	128579306	789	22966											
MAGEB4	0	.	GRCh38	chrX	30242581	30242581	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaaggagcacttccctgAgatcttcaggaaagtctctc	11	10	9	11	0	3	1	1	1	2	1	6	4	4	3	1	2	2	2	1	2	3	3	novel		C3N-01030_TP	C3N-01030_NB	A	A																c.446A>T	p.Glu149Val	p.E149V	ENST00000378982	1/1	91	45	46	77	77	0	strelka-varscan-mutect	MAGEB4,missense_variant,p.Glu149Val,ENST00000378982,NM_002367.3;MAGEB1,upstream_gene_variant,,ENST00000378981,NM_002363.4;MAGEB1,upstream_gene_variant,,ENST00000397550,NM_177415.2;MAGEB1,upstream_gene_variant,,ENST00000397548,NM_177404.2;	T	ENST00000378982	Transcript	missense_variant	530/2142	446/1041	149/346	E/V	gAg/gTg		1		1	MAGEB4	HGNC	HGNC:6811	protein_coding	YES	CCDS14221.1	ENSP00000368266	O15481		UPI000012F055	NM_002367.3	deleterious(0.04)		1/1		Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF75,SMART_domains:SM01373																	MODERATE		SNV				1										PASS		.	.												T	3	4	70	30242581	30242581	A	T	1	0	0	0	0	1	0	0	0	9094	304	11	4		4	MAGEB4	23	30242581	Missense_Mutation	SNP	A	C3N-01030_TP	2780992	30242581	125798314	790	22967											
FAM47A	0	.	GRCh38	chrX	34131134	34131134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagatgggacactccaGtcttggaaggctccgcgtgg	7	8	16	10	2	1	1	0	1	1	1	3	4	3	3	2	5	0	2	2	5	1	1	rs759260358		C3N-01030_TP	C3N-01030_NB	G	G																c.1145C>A	p.Thr382Asn	p.T382N	ENST00000346193	1/1	43	21	22	42	42	0	strelka-varscan-mutect	FAM47A,missense_variant,p.Thr382Asn,ENST00000346193,NM_203408.3;FAM47A,missense_variant,p.Thr382Asn,ENST00000613251,;	T	ENST00000346193	Transcript	missense_variant	1178/2556	1145/2376	382/791	T/N	aCt/aAt	rs759260358	1		-1	FAM47A	HGNC	HGNC:29962	protein_coding	YES	CCDS43926.1	ENSP00000345029	Q5JRC9		UPI000013F1F4	NM_203408.3	tolerated(0.16)		1/1		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF200,Pfam_domain:PF14642																	MODERATE	1	SNV				1										PASS		rs759260358	.												T	3	4	70	34131134	34131134	G	T	1	0	0	0	0	1	0	0	0	5447	1029	36	2		2	FAM47A	23	34131134	Missense_Mutation	SNP	G	C3N-01030_TP	3888553	34131134	121909761	791	22968											
CFAP47	0	.	GRCh38	chrX	35967731	35967731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccatgacacgcactcaCaatcatcgctcatgtgaaga	13	8	7	13	2	4	3	4	2	0	1	5	3	4	3	1	0	1	2	1	0	2	0	rs145448150		C3N-01030_TP	C3N-01030_NB	C	C																c.1713C>A	p.His571Gln	p.H571Q	ENST00000297866	10/16	158	86	72	166	166	0	strelka-varscan-mutect	CFAP47,missense_variant,p.His571Gln,ENST00000378653,NM_001304548.1;CFAP47,missense_variant,p.His571Gln,ENST00000297866,NM_152632.3;CFAP47,missense_variant,p.His571Gln,ENST00000493930,;	A	ENST00000297866	Transcript	missense_variant	1779/3608	1713/2931	571/976	H/Q	caC/caA	rs145448150,COSM1734359,COSM1734360	1		1	CFAP47	HGNC	HGNC:26708	protein_coding	YES	CCDS14237.2	ENSP00000297866	Q6ZTR5		UPI000022DD27	NM_152632.3	deleterious(0)		10/16		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF24											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs145448150	.												A	3	1	70	35967731	35967731	C	A	1	0	0	0	0	1	0	0	0	3022	477	17	2		2	CFAP47	23	35967731	Missense_Mutation	SNP	C	C3N-01030_TP	1836597	35967731	120073164	792	22969											
DUSP21	0	.	GRCh38	chrX	44844480	44844480	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagccgttccgcctcactGtgccttgcgtacctcatgaa	6	11	10	14	3	2	2	2	2	0	0	3	2	3	2	5	0	4	2	5	0	2	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.348G>T	p.=	p.L116L	ENST00000339042	1/1	75	33	42	65	64	1	strelka-varscan-mutect	DUSP21,synonymous_variant,p.=,ENST00000339042,NM_022076.3;	T	ENST00000339042	Transcript	synonymous_variant	477/885	348/573	116/190	L	ctG/ctT		1		1	DUSP21	HGNC	HGNC:20476	protein_coding	YES	CCDS14264.1	ENSP00000343244	Q9H596		UPI00000342DF	NM_022076.3			1/1		Gene3D:3.90.190.10,Pfam_domain:PF00782,PROSITE_profiles:PS50054,PROSITE_profiles:PS50056,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF386,SMART_domains:SM00195,Superfamily_domains:SSF52799																	LOW	1	SNV				1										PASS		.	.												T	2	4	70	44844480	44844480	G	T	1	0	0	0	0	0	0	0	1	4642	1364	48	2		2	DUSP21	23	44844480	Silent	SNP	G	C3N-01030_TP	8876749	44844480	111196415	793	22970											
RBM10	0	.	GRCh38	chrX	47180505	47180505	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagtgggccatctcacAggtactcagaccccttgtgc	7	8	11	15	0	2	1	2	0	1	1	3	1	2	1	4	3	2	1	4	3	1	2			C3N-01030_TP	C3N-01030_NB	A	A																c.1442A>T	p.Gln481Leu	p.Q481L	ENST00000329236	12/24	155	86	69	110	110	0	strelka-varscan-mutect	RBM10,missense_variant,p.Gln416Leu,ENST00000377604,NM_005676.4,NM_001204467.1;RBM10,missense_variant,p.Gln481Leu,ENST00000329236,NM_001204468.1;RBM10,missense_variant,p.Gln339Leu,ENST00000345781,NM_001204466.1;RBM10,missense_variant,p.Gln338Leu,ENST00000628161,NM_152856.2;RBM10,splice_region_variant,,ENST00000478410,;RBM10,intron_variant,,ENST00000496012,;	T	ENST00000329236	Transcript	missense_variant,splice_region_variant	1442/3201	1442/2988	481/995	Q/L	cAg/cTg	COSM1558303	1		1	RBM10	HGNC	HGNC:9896	protein_coding	YES	CCDS75969.1	ENSP00000328848		A0A0A0MR66	UPI0000211F0E	NM_001204468.1	deleterious(0)		12/24		hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF4,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	70	47180505	47180505	A	T	1	0	0	0	0	1	0	0	0	13277	202	7	4		4	RBM10	23	47180505	Missense_Mutation	SNP	A	C3N-01030_TP	2336025	47180505	108860390	794	22971											
WNK3	0	.	GRCh38	chrX	54255792	54255792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctggtcggggacaggaaGctcttctctgtttgatccga	6	13	12	10	2	3	1	0	1	3	0	7	4	4	3	1	4	1	2	1	4	1	2	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2198C>A	p.Ala733Asp	p.A733D	ENST00000354646	12/24	96	56	40	111	111	0	strelka-varscan-mutect	WNK3,missense_variant,p.Ala733Asp,ENST00000354646,NM_020922.4;WNK3,missense_variant,p.Ala733Asp,ENST00000375169,NM_001002838.3;WNK3,missense_variant,p.Ala733Asp,ENST00000375159,;WNK3,missense_variant,p.Ala733Asp,ENST00000620763,;	T	ENST00000354646	Transcript	missense_variant	2637/11341	2198/5403	733/1800	A/D	gCt/gAt		1		-1	WNK3	HGNC	HGNC:14543	protein_coding	YES	CCDS14357.1	ENSP00000346667	Q9BYP7		UPI00001AF003	NM_020922.4	deleterious(0)		12/24		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF47																	MODERATE	1	SNV	1			1										PASS		rs1447824802	.												T	3	4	70	54255792	54255792	G	T	1	0	0	0	0	1	0	0	0	17935	971	34	2		2	WNK3	23	54255792	Missense_Mutation	SNP	G	C3N-01030_TP	7075287	54255792	101785103	795	22972											
ITIH6	0	.	GRCh38	chrX	54751292	54751292	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccggggtttgtctgtagtGactgtgatgatctggaagta	7	13	15	6	1	2	3	0	3	2	0	2	4	2	4	1	3	0	3	1	3	3	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.3441C>T	p.=	p.V1147V	ENST00000218436	12/13	133	73	60	91	90	1	strelka-varscan-mutect	ITIH6,synonymous_variant,p.=,ENST00000218436,NM_198510.2;	A	ENST00000218436	Transcript	synonymous_variant	3471/4968	3441/3942	1147/1313	V	gtC/gtT		1		-1	ITIH6	HGNC	HGNC:28907	protein_coding	YES	CCDS14361.1	ENSP00000218436	Q6UXX5		UPI00000540C8	NM_198510.2			12/13		Pfam_domain:PF06668,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF10																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	54751292	54751292	G	A	1	0	0	0	0	0	0	0	1	7814	1277	45	3		3	ITIH6	23	54751292	Silent	SNP	G	C3N-01030_TP	495500	54751292	101289603	796	22973											
AMER1	0	.	GRCh38	chrX	64192143	64192143	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctcttcttcctcttcttCctcctcgtcatcatcatctg	4	17	2	18	1	8	0	3	0	5	0	12	0	11	0	4	0	0	0	4	0	0	4	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1144G>T	p.Glu382Ter	p.E382*	ENST00000330258	2/2	76	36	40	101	101	0	strelka-varscan-mutect	AMER1,stop_gained,p.Glu382Ter,ENST00000330258,NM_152424.3;AMER1,stop_gained,p.Glu382Ter,ENST00000374869,;	A	ENST00000330258	Transcript	stop_gained	1417/8443	1144/3408	382/1135	E/*	Gaa/Taa		1		-1	AMER1	HGNC	HGNC:26837	protein_coding	YES	CCDS14377.2	ENSP00000329117	Q5JTC6		UPI0000EDA0FC	NM_152424.3			2/2		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22237:SF0,hmmpanther:PTHR22237,Pfam_domain:PF09422																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	64192143	64192143	C	A	1	0	0	0	0	0	1	0	0	667	864	30	2		2	AMER1	23	64192143	Nonsense_Mutation	SNP	C	C3N-01030_TP	9440851	64192143	91848752	797	22974											
IL2RG	0	.	GRCh38	chrX	71109245	71109245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taccttttgaagtattgctcCcccagtggattgggtggctc	6	14	11	10	0	0	1	0	1	0	0	2	2	1	2	3	3	2	3	3	3	3	6	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.740G>A	p.Gly247Glu	p.G247E	ENST00000374202	5/8	111	44	67	103	103	0	strelka-varscan-mutect	IL2RG,missense_variant,p.Gly247Glu,ENST00000374202,NM_000206.2;IL2RG,missense_variant,p.Gly203Glu,ENST00000464642,;IL2RG,missense_variant,p.Gly57Glu,ENST00000456850,;IL2RG,missense_variant,p.Gly52Glu,ENST00000482750,;IL2RG,synonymous_variant,p.=,ENST00000374188,;IL2RG,downstream_gene_variant,,ENST00000487883,;CXorf65,upstream_gene_variant,,ENST00000374251,NM_001025265.2;IL2RG,downstream_gene_variant,,ENST00000473378,;IL2RG,non_coding_transcript_exon_variant,,ENST00000276110,;IL2RG,non_coding_transcript_exon_variant,,ENST00000512747,;CXorf65,upstream_gene_variant,,ENST00000438526,;CXorf65,upstream_gene_variant,,ENST00000483257,;CXorf65,upstream_gene_variant,,ENST00000466160,;	T	ENST00000374202	Transcript	missense_variant	832/1534	740/1110	247/369	G/E	gGg/gAg		1		-1	IL2RG	HGNC	HGNC:6010	protein_coding	YES	CCDS14406.1	ENSP00000363318	P31785		UPI0000000DEA	NM_000206.2	deleterious(0)		5/8		PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF97,Gene3D:2.60.40.10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	71109245	71109245	C	T	1	0	0	0	0	1	0	0	0	7587	623	22	3		3	IL2RG	23	71109245	Missense_Mutation	SNP	C	C3N-01030_TP	6917102	71109245	84931650	798	22975											
ITGB1BP2	0	.	GRCh38	chrX	71302526	71302526	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgaatgtgattccaaagtCagcagagaccttgcgccggg	10	9	12	10	2	2	3	1	2	1	1	3	4	3	3	3	1	2	1	3	1	2	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.287C>G	p.Ser96Ter	p.S96*	ENST00000373829	4/11	51	27	24	48	48	0	strelka-varscan-mutect	ITGB1BP2,stop_gained,p.Ser78Ter,ENST00000538820,;ITGB1BP2,stop_gained,p.Ser96Ter,ENST00000373829,NM_012278.2;NONO,downstream_gene_variant,,ENST00000535149,NM_001145410.1;NONO,downstream_gene_variant,,ENST00000276079,NM_007363.4;NONO,downstream_gene_variant,,ENST00000373841,NM_001145409.1;NONO,downstream_gene_variant,,ENST00000373856,NM_001145408.1;NONO,downstream_gene_variant,,ENST00000418921,;ITGB1BP2,intron_variant,,ENST00000483897,;NONO,downstream_gene_variant,,ENST00000490044,;NONO,downstream_gene_variant,,ENST00000473525,;ITGB1BP2,upstream_gene_variant,,ENST00000465388,;NONO,downstream_gene_variant,,ENST00000471419,;NONO,downstream_gene_variant,,ENST00000474431,;ITGB1BP2,upstream_gene_variant,,ENST00000475413,;NONO,downstream_gene_variant,,ENST00000472185,;	G	ENST00000373829	Transcript	stop_gained	360/1296	287/1044	96/347	S/*	tCa/tGa		1		1	ITGB1BP2	HGNC	HGNC:6154	protein_coding	YES	CCDS14411.1	ENSP00000362935	Q9UKP3		UPI000000103C	NM_012278.2			4/11		hmmpanther:PTHR12621:SF8,hmmpanther:PTHR12621																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	70	71302526	71302526	C	G	1	0	0	0	0	0	1	0	0	7799	838	29	4		4	ITGB1BP2	23	71302526	Nonsense_Mutation	SNP	C	C3N-01030_TP	193281	71302526	84738369	799	22976											
MAGEE1	0	.	GRCh38	chrX	76428238	76428238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgagggacctggcacctCcgtgctgcccacccccagtg	5	7	11	18	1	1	1	0	1	1	0	2	2	2	2	6	2	2	2	6	2	0	0	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.308C>A	p.Ser103Tyr	p.S103Y	ENST00000361470	1/1	130	72	58	107	107	0	strelka-varscan-mutect	MAGEE1,missense_variant,p.Ser103Tyr,ENST00000361470,NM_020932.2;	A	ENST00000361470	Transcript	missense_variant	515/3630	308/2874	103/957	S/Y	tCc/tAc		1		1	MAGEE1	HGNC	HGNC:24934	protein_coding	YES	CCDS14433.1	ENSP00000354912	Q9HCI5		UPI000006F138	NM_020932.2	deleterious_low_confidence(0)		1/1																			MODERATE	1	SNV				1										PASS		.	.												A	3	1	70	76428238	76428238	C	A	1	0	0	0	0	1	0	0	0	9103	855	30	2		2	MAGEE1	23	76428238	Missense_Mutation	SNP	C	C3N-01030_TP	5125712	76428238	79612657	800	22977											
PABPC5	0	.	GRCh38	chrX	91435755	91435755	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggtgacccgcagccccctgGgctatgggtatgttaacttc	6	10	12	13	2	0	1	0	1	0	0	1	1	0	1	3	3	2	4	3	3	3	4			C3N-01030_TP	C3N-01030_NB	G	G																c.178G>C	p.Gly60Arg	p.G60R	ENST00000312600	2/2	106	58	48	81	81	0	strelka-varscan-mutect	PABPC5,missense_variant,p.Gly60Arg,ENST00000312600,NM_080832.2;PABPC5,intron_variant,,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;	C	ENST00000312600	Transcript	missense_variant	392/3221	178/1149	60/382	G/R	Ggc/Cgc	COSM5681167	1		1	PABPC5	HGNC	HGNC:13629	protein_coding	YES	CCDS14460.1	ENSP00000308012	Q96DU9		UPI0000087790	NM_080832.2	deleterious(0)		2/2		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF407,SMART_domains:SM00360,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	70	91435755	91435755	G	C	1	0	0	0	0	1	0	0	0	11445	1232	43	4		4	PABPC5	23	91435755	Missense_Mutation	SNP	G	C3N-01030_TP	15007517	91435755	64605140	801	22978											
PCDH11X	0	.	GRCh38	chrX	91877606	91877606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatgctcttcatcaaaGtgaaagatgaaaatgacaat	18	9	7	7	0	3	4	2	3	1	1	3	4	3	4	0	0	2	2	0	0	6	1	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.1366G>T	p.Val456Leu	p.V456L	ENST00000373094	2/7	122	65	57	140	140	0	strelka-varscan-mutect	PCDH11X,missense_variant,p.Val456Leu,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Val456Leu,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Val456Leu,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Val456Leu,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Val456Leu,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Val456Leu,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Val456Leu,ENST00000395337,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000298274,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000361724,;	T	ENST00000373094	Transcript	missense_variant	2211/9179	1366/4044	456/1347	V/L	Gtg/Ttg		1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4	tolerated(0.21)		2/7		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF25,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	70	91877606	91877606	G	T	1	0	0	0	0	1	0	0	0	11595	1029	36	2		2	PCDH11X	23	91877606	Missense_Mutation	SNP	G	C3N-01030_TP	441851	91877606	64163289	802	22979											
SLC25A53	0	.	GRCh38	chrX	104104454	104104454	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagcctccacggtagatCaggagcagctttcggccccg	8	6	14	13	3	1	1	1	0	0	1	3	3	2	3	4	4	3	3	4	4	1	2	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.804G>T	p.=	p.L268L	ENST00000594199	2/2	154	72	82	169	167	2	strelka-varscan-mutect	SLC25A53,synonymous_variant,p.=,ENST00000594199,NM_001012755.4;	A	ENST00000594199	Transcript	synonymous_variant	985/6225	804/924	268/307	L	ctG/ctT		1		-1	SLC25A53	HGNC	HGNC:31894	protein_coding	YES	CCDS35363.1	ENSP00000468980	Q5H9E4		UPI0000140AFF	NM_001012755.4			2/2		Superfamily_domains:0048588,Gene3D:1okcA00,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF235																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	70	104104454	104104454	C	A	1	0	0	0	0	0	0	0	1	14782	813	29	2		2	SLC25A53	23	104104454	Silent	SNP	C	C3N-01030_TP	12226848	104104454	51936441	803	22980											
IRS4	0	.	GRCh38	chrX	108733889	108733889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtcattctgtcccaaaGgtgagctccgaaaagggttt	9	13	11	8	1	2	1	1	1	1	0	4	2	4	1	2	2	1	3	2	2	3	3	novel		C3N-01030_TP	C3N-01030_NB	G	G																c.2456C>A	p.Pro819His	p.P819H	ENST00000372129	1/1	201	86	115	148	148	0	strelka-varscan-mutect	IRS4,missense_variant,p.Pro819His,ENST00000372129,NM_003604.2;RP6-24A23.6,upstream_gene_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;	T	ENST00000372129	Transcript	missense_variant	2521/3928	2456/3774	819/1257	P/H	cCt/cAt		1		-1	IRS4	HGNC	HGNC:6128	protein_coding	YES	CCDS14544.1	ENSP00000361202	O14654		UPI0000073FE7	NM_003604.2	deleterious(0.05)		1/1		hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF2																	MODERATE		SNV				1										PASS		.	.												T	3	4	70	108733889	108733889	G	T	1	0	0	0	0	1	0	0	0	7750	1000	35	2		2	IRS4	23	108733889	Missense_Mutation	SNP	G	C3N-01030_TP	4629435	108733889	47307006	804	22981											
IRS4	0	.	GRCh38	chrX	108734721	108734721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctagagcactggtttcCtcctgagccctggccatttg	6	13	9	13	0	1	2	0	1	1	1	4	2	3	2	4	2	2	2	4	2	1	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1624G>A	p.Gly542Arg	p.G542R	ENST00000372129	1/1	164	72	92	114	114	0	strelka-varscan-mutect	IRS4,missense_variant,p.Gly542Arg,ENST00000372129,NM_003604.2;RP6-24A23.6,upstream_gene_variant,,ENST00000563887,;RP6-24A23.3,upstream_gene_variant,,ENST00000436013,;RP6-24A23.3,upstream_gene_variant,,ENST00000608811,;	T	ENST00000372129	Transcript	missense_variant	1689/3928	1624/3774	542/1257	G/R	Gga/Aga		1		-1	IRS4	HGNC	HGNC:6128	protein_coding	YES	CCDS14544.1	ENSP00000361202	O14654		UPI0000073FE7	NM_003604.2	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR10614,hmmpanther:PTHR10614:SF2,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												T	3	4	70	108734721	108734721	C	T	1	0	0	0	0	1	0	0	0	7750	690	24	3		3	IRS4	23	108734721	Missense_Mutation	SNP	C	C3N-01030_TP	832	108734721	47306174	805	22982											
RBMXL3	0	.	GRCh38	chrX	115192147	115192147	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtttcagcaacagctatggCcggagtgaccattacggaag	12	8	12	9	2	1	1	1	1	0	0	1	3	1	3	2	3	4	3	2	3	4	3	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.2706C>A	p.=	p.G902G	ENST00000424776	1/1	163	76	87	110	110	0	strelka-varscan-mutect	RBMXL3,synonymous_variant,p.=,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1;	A	ENST00000424776	Transcript	synonymous_variant	2721/3442	2706/3204	902/1067	G	ggC/ggA		1		1	RBMXL3	HGNC	HGNC:26859	protein_coding	YES	CCDS55478.1	ENSP00000417451	Q8N7X1		UPI0001932819	NM_001145346.1			1/1																			LOW		SNV				1										PASS		.	.												A	2	1	70	115192147	115192147	C	A	1	0	0	0	0	0	0	0	1	13321	726	26	2		2	RBMXL3	23	115192147	Silent	SNP	C	C3N-01030_TP	6457426	115192147	40848748	806	22983											
GLUD2	0	.	GRCh38	chrX	121047710	121047710	+	Missense_Mutation	SNP	T	T	C																															ccgctacctggccaaagcgcTgctgccgtcccgggccgggc																								novel		C3N-01030_TP	C3N-01030_NB	T	T																c.26T>C	p.Leu9Pro	p.L9P	ENST00000328078	1/1	45	25	20	48	48	0	strelka-varscan-mutect	GLUD2,missense_variant,p.Leu9Pro,ENST00000328078,NM_012084.3;	C	ENST00000328078	Transcript	missense_variant	123/2493	26/1677	9/558	L/P	cTg/cCg		1		1	GLUD2	HGNC	HGNC:4336	protein_coding	YES	CCDS14603.1	ENSP00000327589	P49448	A0A140VK14	UPI0000129301	NM_012084.3	tolerated_low_confidence(0.05)		1/1																			MODERATE	1	SNV				1										PASS		.	.												C	3	2	70	121047710	121047710	T	C	1	0	0	0	0	1	0	0	0	6354	1580	55	5		5	GLUD2	23	121047710	Missense_Mutation	SNP	T	C3N-01030_TP	5855563	121047710	34993185	807	22984	484	2									
GLUD2	0	.	GRCh38	chrX	121047711	121047711	+	Silent	SNP	G	G	T																															cgctacctggccaaagcgctGctgccgtcccgggccgggcc																								novel		C3N-01030_TP	C3N-01030_NB	G	G																c.27G>T	p.=	p.L9L	ENST00000328078	1/1	46	26	20	48	48	0	strelka-varscan-mutect	GLUD2,synonymous_variant,p.=,ENST00000328078,NM_012084.3;	T	ENST00000328078	Transcript	synonymous_variant	124/2493	27/1677	9/558	L	ctG/ctT		1		1	GLUD2	HGNC	HGNC:4336	protein_coding	YES	CCDS14603.1	ENSP00000327589	P49448	A0A140VK14	UPI0000129301	NM_012084.3			1/1																			LOW	1	SNV				1										PASS		.	.												T	2	4	70	121047711	121047711	G	T	1	0	0	0	0	0	0	0	1	6354	1306	46	2		2	GLUD2	23	121047711	Silent	SNP	G	C3N-01030_TP	1	121047711	34993184	808	22985	484	2									
MAGEC3	0	.	GRCh38	chrX	141895369	141895369	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggagtctggactcaggtCagcagagggaagcgtcttag	10	7	16	8	2	4	1	2	0	2	1	4	5	4	4	0	4	2	1	0	4	2	1	novel		C3N-01030_TP	C3N-01030_NB	C	C																c.1010C>A	p.Ser337Ter	p.S337*	ENST00000298296	5/8	126	61	65	95	95	0	strelka-varscan-mutect	MAGEC3,stop_gained,p.Ser337Ter,ENST00000298296,NM_138702.1;MAGEC3,5_prime_UTR_variant,,ENST00000544766,NM_177456.2;MAGEC3,intron_variant,,ENST00000443323,;MAGEC3,upstream_gene_variant,,ENST00000409007,;MAGEC3,non_coding_transcript_exon_variant,,ENST00000483584,;	A	ENST00000298296	Transcript	stop_gained	1010/1932	1010/1932	337/643	S/*	tCa/tAa		1		1	MAGEC3	HGNC	HGNC:23798	protein_coding	YES	CCDS14676.1	ENSP00000298296	Q8TD91		UPI000006E09B	NM_138702.1			5/8		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF86,SMART_domains:SM01373																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	70	141895369	141895369	C	A	1	0	0	0	0	0	1	0	0	9100	838	29	2		2	MAGEC3	23	141895369	Nonsense_Mutation	SNP	C	C3N-01030_TP	20847658	141895369	14145526	809	22986											
MAGEA12	0	.	GRCh38	chrX	152736838	152736839	+	Frame_Shift_Del	DEL	GT	GT	-																															gaaaatctgggaggagctgaGtgtgttggaggcatctgatg																								novel		C3N-01030_TP	C3N-01030_NB	GT	GT																c.681_682delGT	p.Leu228GlyfsTer4	p.L228Gfs*4	ENST00000393900	3/3	198	85	113	184	184	0	sindel-varindel-pindel	MAGEA12,frameshift_variant,p.Leu228GlyfsTer4,ENST00000393900,NM_001166386.3;MAGEA12,frameshift_variant,p.Leu228GlyfsTer4,ENST00000393869,NM_001166387.3;MAGEA12,frameshift_variant,p.Leu228GlyfsTer4,ENST00000357916,NM_005367.6;CSAG1,upstream_gene_variant,,ENST00000370291,;CSAG1,upstream_gene_variant,,ENST00000370287,NM_153478.2;CSAG1,upstream_gene_variant,,ENST00000452779,NM_001102576.2;CSAG4,intron_variant,,ENST00000361201,;CSAG1,upstream_gene_variant,,ENST00000361211,;CSAG4,upstream_gene_variant,,ENST00000583763,;	-	ENST00000393900	Transcript	frameshift_variant	1031-1032/1853	677-678/945	226/314	S/X	aGT/a		1		1	MAGEA12	HGNC	HGNC:6799	protein_coding	YES	CCDS76048.1	ENSP00000377478	P43365	Q6FHH8	UPI0000000C51	NM_001166386.3			3/3		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF74,Pfam_domain:PF01454,SMART_domains:SM01373																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	70	152736838	152736838	GT	-	1	0	1	0	1	0	0	0	0	9082	1029	36	0		0	MAGEA12	23	152736838	Frame_Shift_Del	DEL	GT	C3N-01030_TP	10841469	152736838	3304057	810	22987											
VPS13D	0	.	GRCh38	chr1	12304532	12304532	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccttcagcttccccaacGggtattcccaaacacagtct	9	10	7	15	1	2	0	1	0	1	0	4	0	4	0	4	1	4	2	4	1	3	4	rs756013448		C3N-01071_TP	C3N-01071_NB	G	G																c.6243G>T	p.=	p.T2081T	ENST00000620676	26/70	270	233	37	310	310	0	strelka-varscan-mutect	VPS13D,synonymous_variant,p.=,ENST00000620676,NM_015378.3;VPS13D,synonymous_variant,p.=,ENST00000613099,NM_018156.3;VPS13D,synonymous_variant,p.=,ENST00000011700,;VPS13D,non_coding_transcript_exon_variant,,ENST00000460333,;	T	ENST00000620676	Transcript	synonymous_variant	6373/16320	6243/13167	2081/4388	T	acG/acT	rs756013448	1		1	VPS13D	HGNC	HGNC:23595	protein_coding	YES	CCDS30588.1	ENSP00000478104	Q5THJ4		UPI0000451CA9	NM_015378.3			26/70		hmmpanther:PTHR16166:SF104,hmmpanther:PTHR16166																	LOW	1	SNV	1			1										PASS		rs756013448	.												T	2	4	71	12304532	12304532	G	T	1	0	0	0	0	0	0	0	1	17739	1103	39	1		1	VPS13D	1	12304532	Silent	SNP	G	C3N-01071_TP		12304532	236651890	1	22988											
FBXO42	0	.	GRCh38	chr1	16315227	16315227	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagttttgtgttcctgataCggtgagagaaaggacaggat	11	11	14	5	1	0	3	0	2	0	1	1	6	1	5	1	3	1	3	1	3	2	4	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.192G>T	p.=	p.P64P	ENST00000375592	2/10	199	178	21	182	182	0	strelka-varscan-mutect	FBXO42,synonymous_variant,p.=,ENST00000375592,NM_018994.2;FBXO42,non_coding_transcript_exon_variant,,ENST00000478089,;	A	ENST00000375592	Transcript	synonymous_variant	409/6202	192/2154	64/717	P	ccG/ccT		1		-1	FBXO42	HGNC	HGNC:29249	protein_coding	YES	CCDS30613.1	ENSP00000364742	Q6P3S6	A0A024QZB0	UPI0000161A51	NM_018994.2			2/10		Gene3D:1.20.1280.50,Pfam_domain:PF12937,PROSITE_profiles:PS50181,SMART_domains:SM00256,Superfamily_domains:SSF81383																	LOW	1	SNV	1			1										PASS		rs909076125	.												A	2	1	71	16315227	16315227	C	A	1	0	0	0	0	0	0	0	1	5614	523	19	1		1	FBXO42	1	16315227	Silent	SNP	C	C3N-01071_TP	4010695	16315227	232641195	2	22989											
SYF2	0	.	GRCh38	chr1	25223422	25223422	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccggctatatttgtctcgTttttcaatcctggggaaaga	8	15	9	9	2	2	1	1	0	1	1	5	2	4	2	2	3	0	2	2	3	4	5	rs754264978		C3N-01071_TP	C3N-01071_NB	T	T																c.576A>T	p.Lys192Asn	p.K192N	ENST00000236273	7/7	98	88	10	102	102	0	strelka-varscan-mutect	SYF2,missense_variant,p.Lys192Asn,ENST00000236273,NM_015484.4;SYF2,missense_variant,p.Lys150Asn,ENST00000354361,NM_207170.3;	A	ENST00000236273	Transcript	missense_variant	602/1345	576/732	192/243	K/N	aaA/aaT	rs754264978	1		-1	SYF2	HGNC	HGNC:19824	protein_coding	YES	CCDS259.1	ENSP00000236273	O95926		UPI0000073D39	NM_015484.4	deleterious(0)		7/7		hmmpanther:PTHR13264:SF5,hmmpanther:PTHR13264,Pfam_domain:PF08231																	MODERATE	1	SNV	1			1										PASS		rs754264978	.												A	3	1	71	25223422	25223422	T	A	1	0	0	0	0	1	0	0	0	15827	1722	60	4		4	SYF2	1	25223422	Missense_Mutation	SNP	T	C3N-01071_TP	8908195	25223422	223733000	3	22990											
ZBTB8B	0	.	GRCh38	chr1	32470989	32470989	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatacattaggtcatcccTcgacatttgccgaaagatgg	12	10	9	10	2	1	1	1	0	0	1	3	4	2	1	2	2	2	0	2	2	3	3	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.365T>C	p.Leu122Pro	p.L122P	ENST00000609129	2/4	603	557	46	456	456	0	strelka-varscan-mutect	ZBTB8B,missense_variant,p.Leu122Pro,ENST00000609129,NM_001145720.1;RP1-27O5.3,missense_variant,p.Leu122Pro,ENST00000480336,;	C	ENST00000609129	Transcript	missense_variant	443/12834	365/1488	122/495	L/P	cTc/cCc		1		1	ZBTB8B	HGNC	HGNC:37057	protein_coding	YES	CCDS44104.1	ENSP00000476499	Q8NAP8		UPI000195170E	NM_001145720.1	deleterious(0)		2/4		hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF26,SMART_domains:SM00225																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	71	32470989	32470989	T	C	1	0	0	0	0	1	0	0	0	18127	1551	54	5		5	ZBTB8B	1	32470989	Missense_Mutation	SNP	T	C3N-01071_TP	7247567	32470989	216485433	4	22991											
C1orf94	0	.	GRCh38	chr1	34197445	34197445	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagcctccatcattgtcGgagacaagcttctgaagcag	11	8	10	12	1	2	3	1	1	1	2	4	4	3	3	3	1	3	2	3	1	2	2	rs564666730		C3N-01071_TP	C3N-01071_NB	G	G																c.541G>T	p.Gly181Ter	p.G181*	ENST00000488417	2/7	177	166	11	159	159	0	strelka-varscan-mutect	C1orf94,stop_gained,p.Gly181Ter,ENST00000488417,NM_001134734.1;C1orf94,5_prime_UTR_variant,,ENST00000373374,NM_032884.4;	T	ENST00000488417	Transcript	stop_gained	661/2287	541/1797	181/598	G/*	Gga/Tga	rs564666730	1		1	C1orf94	HGNC	HGNC:28250	protein_coding	YES	CCDS44108.1	ENSP00000435634	Q6P1W5		UPI0000D4BFB0	NM_001134734.1			2/7		hmmpanther:PTHR35674,hmmpanther:PTHR35674:SF1																	HIGH	1	SNV	1			1										PASS		rs564666730	.												T	4	4	71	34197445	34197445	G	T	1	0	0	0	0	0	1	0	0	2000	1117	39	1		1	C1orf94	1	34197445	Nonsense_Mutation	SNP	G	C3N-01071_TP	1726456	34197445	214758977	5	22992											
TIE1	0	.	GRCh38	chr1	43312128	43312128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctcatgaccacagactgtCctggtgagaggccaagagtc	10	7	11	13	0	1	4	1	2	0	3	3	5	2	4	4	2	0	0	4	2	1	0	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1627C>T	p.Pro543Ser	p.P543S	ENST00000372476	11/23	25	20	5	11	11	0	strelka-mutect	TIE1,missense_variant,p.Pro543Ser,ENST00000372476,NM_005424.4,NM_001253357.1;TIE1,downstream_gene_variant,,ENST00000538015,;TIE1,non_coding_transcript_exon_variant,,ENST00000488437,;TIE1,upstream_gene_variant,,ENST00000473014,;TIE1,upstream_gene_variant,,ENST00000461061,;TIE1,upstream_gene_variant,,ENST00000471187,;TIE1,downstream_gene_variant,,ENST00000480269,;	T	ENST00000372476	Transcript	missense_variant	1706/3882	1627/3417	543/1138	P/S	Cct/Tct		1		1	TIE1	HGNC	HGNC:11809	protein_coding	YES	CCDS482.1	ENSP00000361554	P35590		UPI0000032E59	NM_005424.4,NM_001253357.1	tolerated(0.34)		11/23		PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF341,hmmpanther:PTHR24416,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	43312128	43312128	C	T	1	0	0	0	0	1	0	0	0	16329	869	30	3		3	TIE1	1	43312128	Missense_Mutation	SNP	C	C3N-01071_TP	9114683	43312128	205644294	6	22993											
ZCCHC11	0	.	GRCh38	chr1	52525598	52525598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttcaattcctgaagcaCtatcatcagaatcaccagta	13	11	5	12	1	5	2	4	1	1	1	6	2	6	2	2	0	1	2	2	0	5	4	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.683G>T	p.Ser228Ile	p.S228I	ENST00000257177	2/30	178	160	18	137	137	0	strelka-varscan-mutect	ZCCHC11,missense_variant,p.Ser228Ile,ENST00000371544,NM_015269.2;ZCCHC11,missense_variant,p.Ser228Ile,ENST00000257177,NM_001009881.2;ZCCHC11,missense_variant,p.Ser228Ile,ENST00000528642,;ZCCHC11,missense_variant,p.Ser228Ile,ENST00000355809,;ZCCHC11,intron_variant,,ENST00000484723,;ZCCHC11,downstream_gene_variant,,ENST00000470626,;ZCCHC11,downstream_gene_variant,,ENST00000524582,;ZCCHC11,non_coding_transcript_exon_variant,,ENST00000371541,;ZCCHC11,missense_variant,p.Ser228Ile,ENST00000473856,;	A	ENST00000257177	Transcript	missense_variant	828/5743	683/4938	228/1645	S/I	aGt/aTt		1		-1	ZCCHC11	HGNC	HGNC:28981	protein_coding	YES	CCDS30715.1	ENSP00000257177		A0A0C4DFM7	UPI00001D7D0C	NM_001009881.2	deleterious_low_confidence(0.03)		2/30																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	52525598	52525598	C	A	1	0	0	0	0	1	0	0	0	18155	565	20	2		2	ZCCHC11	1	52525598	Missense_Mutation	SNP	C	C3N-01071_TP	9213470	52525598	196430824	7	22994											
FUBP1	0	.	GRCh38	chr1	77949219	77949219	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcataataggctgcttgtTgtctataatactcagcccag	10	12	10	9	0	2	0	1	0	1	0	2	0	2	0	1	2	3	4	1	2	5	7	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.1862A>T	p.Gln621Leu	p.Q621L	ENST00000370768	19/20	278	246	32	240	240	0	strelka-varscan-mutect	FUBP1,missense_variant,p.Gln621Leu,ENST00000370767,;FUBP1,missense_variant,p.Gln621Leu,ENST00000370768,NM_003902.4,NM_001303433.1;FUBP1,non_coding_transcript_exon_variant,,ENST00000492405,;FUBP1,non_coding_transcript_exon_variant,,ENST00000488814,;FUBP1,non_coding_transcript_exon_variant,,ENST00000492724,;FUBP1,non_coding_transcript_exon_variant,,ENST00000487684,;FUBP1,upstream_gene_variant,,ENST00000489495,;FUBP1,upstream_gene_variant,,ENST00000474632,;FUBP1,upstream_gene_variant,,ENST00000483894,;FUBP1,upstream_gene_variant,,ENST00000480673,;FUBP1,missense_variant,p.Gln620Leu,ENST00000294623,;	A	ENST00000370768	Transcript	missense_variant	1944/2378	1862/1935	621/644	Q/L	cAa/cTa		1		-1	FUBP1	HGNC	HGNC:4004	protein_coding	YES	CCDS683.1	ENSP00000359804	Q96AE4		UPI0000070218	NM_003902.4,NM_001303433.1	deleterious(0)		19/20		Low_complexity_(Seg):seg,Pfam_domain:PF09005																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	77949219	77949219	T	A	1	0	0	0	0	1	0	0	0	5963	1812	63	4		4	FUBP1	1	77949219	Missense_Mutation	SNP	T	C3N-01071_TP	25423621	77949219	171007203	8	22995											
IGSF3	0	.	GRCh38	chr1	116608269	116608269	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaggatgcatctgaactCcaccggctcgcccaccgtgt	7	8	9	17	3	1	1	0	1	1	0	4	2	3	2	5	2	2	2	5	2	1	0	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.895G>T	p.Glu299Ter	p.E299*	ENST00000369483	5/12	126	108	18	112	112	0	varscan-mutect	IGSF3,stop_gained,p.Glu299Ter,ENST00000369483,NM_001542.3;IGSF3,stop_gained,p.Glu299Ter,ENST00000369486,NM_001007237.2;IGSF3,stop_gained,p.Glu299Ter,ENST00000318837,;	A	ENST00000369483	Transcript	stop_gained	1663/7326	895/3645	299/1214	E/*	Gag/Tag		1		-1	IGSF3	HGNC	HGNC:5950	protein_coding	YES	CCDS30814.1	ENSP00000358495	O75054		UPI0000140437	NM_001542.3			5/12		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF21,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	71	116608269	116608269	C	A	1	0	0	0	0	0	1	0	0	7509	864	30	2		2	IGSF3	1	116608269	Nonsense_Mutation	SNP	C	C3N-01071_TP	38659050	116608269	132348153	9	22996											
NOTCH2	0	.	GRCh38	chr1	119925564	119925564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggcaggaggggtgctggGgggtgccgtgtagagttcac	5	8	22	6	1	1	1	1	0	0	1	1	2	1	2	1	8	2	4	1	8	1	2	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.4252C>T	p.Pro1418Ser	p.P1418S	ENST00000256646	25/34	459	434	25	372	372	0	strelka-varscan-mutect	NOTCH2,missense_variant,p.Pro1418Ser,ENST00000256646,NM_024408.3;NOTCH2,upstream_gene_variant,,ENST00000493703,;	A	ENST00000256646	Transcript	missense_variant	4472/11389	4252/7416	1418/2471	P/S	Ccc/Tcc		1		-1	NOTCH2	HGNC	HGNC:7882	protein_coding	YES	CCDS908.1	ENSP00000256646	Q04721		UPI000013CF1D	NM_024408.3	tolerated(0.07)		25/34		PIRSF_domain:PIRSF002279,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF66,SMART_domains:SM00004																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	119925564	119925564	G	A	1	0	0	0	0	1	0	0	0	10593	1232	43	3		3	NOTCH2	1	119925564	Missense_Mutation	SNP	G	C3N-01071_TP	3317295	119925564	129030858	10	22997											
SF3B4	0	.	GRCh38	chr1	149926456	149926456	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgcatctgcaaacagcTgatgagggcgatcagcctgg	10	7	15	9	1	2	2	1	2	1	0	2	4	2	2	1	3	5	3	1	3	1	0	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.626A>C	p.Gln209Pro	p.Q209P	ENST00000271628	3/6	290	203	87	201	201	0	strelka-varscan-mutect	SF3B4,missense_variant,p.Gln209Pro,ENST00000271628,NM_005850.4;SF3B4,missense_variant,p.Gln166Pro,ENST00000457312,;MTMR11,downstream_gene_variant,,ENST00000439741,NM_001145862.1;MTMR11,downstream_gene_variant,,ENST00000369140,NM_181873.3;MTMR11,downstream_gene_variant,,ENST00000492824,;MTMR11,downstream_gene_variant,,ENST00000482025,;MTMR11,downstream_gene_variant,,ENST00000466496,;MTMR11,downstream_gene_variant,,ENST00000490310,;MTMR11,downstream_gene_variant,,ENST00000495054,;MTMR11,downstream_gene_variant,,ENST00000493562,;MTMR11,downstream_gene_variant,,ENST00000482343,;	G	ENST00000271628	Transcript	missense_variant	1211/2085	626/1275	209/424	Q/P	cAg/cCg		1		-1	SF3B4	HGNC	HGNC:10771	protein_coding	YES	CCDS72900.1	ENSP00000271628	Q15427		UPI0000135472	NM_005850.4	deleterious(0.02)		3/6																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	149926456	149926456	T	G	1	0	0	0	0	1	0	0	0	14431	1580	55	5		5	SF3B4	1	149926456	Missense_Mutation	SNP	T	C3N-01071_TP	30000892	149926456	99029966	11	22998											
RPRD2	0	.	GRCh38	chr1	150472996	150472996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacccagggaccacGggggccccacccaacgggac	9	1	13	18	2	0	0	0	0	0	0	1	3	1	3	6	5	1	0	6	5	1	0	rs770483785		C3N-01071_TP	C3N-01071_NB	G	G																c.4048G>A	p.Gly1350Arg	p.G1350R	ENST00000369068	11/11	235	153	82	163	163	0	strelka-varscan-mutect	RPRD2,missense_variant,p.Gly1324Arg,ENST00000401000,NM_001297674.1,NM_001297673.1;RPRD2,missense_variant,p.Gly1350Arg,ENST00000369068,NM_015203.4;RPRD2,non_coding_transcript_exon_variant,,ENST00000492220,;	A	ENST00000369068	Transcript	missense_variant	4052/4612	4048/4386	1350/1461	G/R	Ggg/Agg	rs770483785,COSM2182118,COSM2182119	1		1	RPRD2	HGNC	HGNC:29039	protein_coding	YES	CCDS44216.1	ENSP00000358064	Q5VT52		UPI00001D7CA8	NM_015203.4	tolerated_low_confidence(0.51)		11/11		hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF0											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs770483785	.												A	3	1	71	150472996	150472996	G	A	1	0	0	0	0	1	0	0	0	13871	1116	39	1		1	RPRD2	1	150472996	Missense_Mutation	SNP	G	C3N-01071_TP	546540	150472996	98483426	12	22999											
MCL1	0	.	GRCh38	chr1	150579054	150579054	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcgtcgagggtagTgacccgtccgtactggtgtt	4	9	18	10	6	0	1	0	1	0	0	2	2	1	1	2	5	1	3	2	5	2	3	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.477A>G	p.=	p.S159S	ENST00000369026	1/3	428	320	108	344	344	0	strelka-varscan-mutect	MCL1,synonymous_variant,p.=,ENST00000369026,NM_021960.4;MCL1,synonymous_variant,p.=,ENST00000307940,NM_182763.2;MCL1,intron_variant,,ENST00000620947,NM_001197320.1;ADAMTSL4-AS1,upstream_gene_variant,,ENST00000617352,;MCL1,upstream_gene_variant,,ENST00000464132,;	C	ENST00000369026	Transcript	synonymous_variant	537/3932	477/1053	159/350	S	tcA/tcG		1		-1	MCL1	HGNC	HGNC:6943	protein_coding	YES	CCDS957.1	ENSP00000358022	Q07820		UPI000006D775	NM_021960.4			1/3		hmmpanther:PTHR11256,hmmpanther:PTHR11256:SF46,Superfamily_domains:SSF56854																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	71	150579054	150579054	T	C	1	0	0	0	0	0	0	0	1	9316	1683	59	5		5	MCL1	1	150579054	Silent	SNP	T	C3N-01071_TP	106058	150579054	98377368	13	23000											
ATP1A4	0	.	GRCh38	chr1	160181997	160181997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttctgtcctacactccaGgcatggacgtggccctgcga	7	10	10	14	2	1	0	0	0	1	0	3	2	3	1	3	3	2	1	3	3	1	2	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.2935G>T	p.Gly979Cys	p.G979C	ENST00000368081	20/22	327	306	21	184	184	0	strelka-varscan	ATP1A4,missense_variant,p.Gly979Cys,ENST00000368081,NM_144699.3;ATP1A4,missense_variant,p.Gly115Cys,ENST00000470705,NM_001001734.1;ATP1A4,non_coding_transcript_exon_variant,,ENST00000418334,;ATP1A4,non_coding_transcript_exon_variant,,ENST00000466526,;ATP1A4,3_prime_UTR_variant,,ENST00000477338,;ATP1A4,non_coding_transcript_exon_variant,,ENST00000469023,;	T	ENST00000368081	Transcript	missense_variant	3406/3839	2935/3090	979/1029	G/C	Ggc/Tgc		1		1	ATP1A4	HGNC	HGNC:14073	protein_coding	YES	CCDS1197.1	ENSP00000357060	Q13733		UPI0000124FC5	NM_144699.3	deleterious(0)		20/22		Superfamily_domains:0049473,Gene3D:1.20.1110.10,Pfam_domain:PF00689,Prints_domain:PR00121,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF309,TIGRFAM_domain:TIGR01106																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	160181997	160181997	G	T	1	0	0	0	0	1	0	0	0	1283	1000	35	2		2	ATP1A4	1	160181997	Missense_Mutation	SNP	G	C3N-01071_TP	9602943	160181997	88774425	14	23001											
LRRC52	0	.	GRCh38	chr1	165563526	165563526	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctaaatgccacatgtgTggagcccacagagctgacag	12	8	11	10	0	1	3	0	2	1	1	1	4	1	4	2	1	3	1	2	1	2	1	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.644T>C	p.Val215Ala	p.V215A	ENST00000294818	2/2	140	95	45	110	110	0	strelka-varscan	LRRC52,missense_variant,p.Val215Ala,ENST00000294818,NM_001005214.3;RP11-280O1.2,intron_variant,,ENST00000438275,;RP11-280O1.2,intron_variant,,ENST00000421273,;RP11-280O1.2,intron_variant,,ENST00000416424,;	C	ENST00000294818	Transcript	missense_variant	934/1369	644/942	215/313	V/A	gTg/gCg		1		1	LRRC52	HGNC	HGNC:32156	protein_coding	YES	CCDS30930.1	ENSP00000294818	Q8N7C0		UPI000013E1BE	NM_001005214.3	tolerated(0.52)		2/2		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF37,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	71	165563526	165563526	T	C	1	0	0	0	0	1	0	0	0	8904	1696	59	5		5	LRRC52	1	165563526	Missense_Mutation	SNP	T	C3N-01071_TP	5381529	165563526	83392896	15	23002											
F5	0	.	GRCh38	chr1	169556859	169556859	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgtggtcatgggcacaaaCtgttatatctgagaaagagg	13	10	13	5	0	2	2	1	1	1	2	2	4	2	2	0	3	1	2	0	3	4	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.739G>T	p.Val247Phe	p.V247F	ENST00000367797	6/25	540	502	38	413	412	1	strelka-varscan-mutect	F5,missense_variant,p.Val247Phe,ENST00000367796,;F5,missense_variant,p.Val247Phe,ENST00000367797,NM_000130.4;	A	ENST00000367797	Transcript	missense_variant	941/7024	739/6675	247/2224	V/F	Gtt/Ttt		1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4	tolerated(0.06)		6/25		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,Gene3D:2.60.40.420,PIRSF_domain:PIRSF000354,Superfamily_domains:SSF49503																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	169556859	169556859	C	A	1	0	0	0	0	1	0	0	0	5216	565	20	2		2	F5	1	169556859	Missense_Mutation	SNP	C	C3N-01071_TP	3993333	169556859	79399563	16	23003											
DNM3	0	.	GRCh38	chr1	172044447	172044447	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaatcaaaaacatacatggTatcaggcaagtgattcacat	17	9	7	8	0	3	1	3	1	0	0	3	1	3	1	0	2	2	3	0	2	6	3	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.1191T>C	p.=	p.G397G	ENST00000627582	9/21	187	174	13	132	132	0	strelka-varscan-mutect	DNM3,synonymous_variant,p.=,ENST00000627582,NM_015569.4;DNM3,synonymous_variant,p.=,ENST00000367731,NM_001136127.2;DNM3,synonymous_variant,p.=,ENST00000520906,;DNM3,synonymous_variant,p.=,ENST00000355305,;DNM3,synonymous_variant,p.=,ENST00000367733,NM_001278252.1;DNM3,synonymous_variant,p.=,ENST00000523513,;	C	ENST00000627582	Transcript	synonymous_variant	1348/7625	1191/2592	397/863	G	ggT/ggC		1		1	DNM3	HGNC	HGNC:29125	protein_coding	YES	CCDS53431.1	ENSP00000486701	Q9UQ16		UPI0000251D91	NM_015569.4			9/21		Pfam_domain:PF01031,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF54																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	71	172044447	172044447	T	C	1	0	0	0	0	0	0	0	1	4486	1652	57	5		5	DNM3	1	172044447	Silent	SNP	T	C3N-01071_TP	2487588	172044447	76911975	17	23004											
SUCO	0	.	GRCh38	chr1	172532592	172532592	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacaacacacacgtcattcTaggccattccacgaactgtg	12	9	6	14	2	3	0	2	0	1	0	4	1	4	0	2	1	2	0	2	1	3	3	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.120T>C	p.=	p.S40S	ENST00000367723	1/23	427	316	111	444	444	0	strelka-varscan-mutect	SUCO,synonymous_variant,p.=,ENST00000367723,NM_016227.3;SUCO,synonymous_variant,p.=,ENST00000608151,;SUCO,upstream_gene_variant,,ENST00000263688,NM_014283.4;SUCO,upstream_gene_variant,,ENST00000616058,NM_001282751.1;SUCO,upstream_gene_variant,,ENST00000610051,NM_001282750.1;SUCO,upstream_gene_variant,,ENST00000608566,;	C	ENST00000367723	Transcript	synonymous_variant	244/5916	120/4218	40/1405	S	tcT/tcC		1		1	SUCO	HGNC	HGNC:1240	protein_coding	YES	CCDS65726.1	ENSP00000356696	Q9UBS9	A0A024R929	UPI0000EE3C11	NM_016227.3			1/23																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	71	172532592	172532592	T	C	1	0	0	0	0	0	0	0	1	15751	1509	53	5		5	SUCO	1	172532592	Silent	SNP	T	C3N-01071_TP	488145	172532592	76423830	18	23005											
CEP350	0	.	GRCh38	chr1	180094027	180094027	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagaaacagacaatgtacAggacatttctggggtacttg	15	10	10	6	0	1	2	0	0	1	2	1	3	1	3	0	3	3	2	0	3	6	5	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.7922A>G	p.Gln2641Arg	p.Q2641R	ENST00000367607	34/38	217	188	29	183	183	0	strelka-varscan-mutect	CEP350,missense_variant,p.Gln2641Arg,ENST00000367607,NM_014810.4;CEP350,missense_variant,p.Gln816Arg,ENST00000429851,;CEP350,missense_variant,p.Gln105Arg,ENST00000417046,;CEP350,non_coding_transcript_exon_variant,,ENST00000490141,;CEP350,upstream_gene_variant,,ENST00000496440,;CEP350,downstream_gene_variant,,ENST00000484356,;	G	ENST00000367607	Transcript	missense_variant	8340/13491	7922/9354	2641/3117	Q/R	cAg/cGg		1		1	CEP350	HGNC	HGNC:24238	protein_coding	YES	CCDS1336.1	ENSP00000356579	Q5VT06		UPI000013CFC5	NM_014810.4	tolerated(0.42)		34/38		hmmpanther:PTHR13958:SF4,hmmpanther:PTHR13958																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	180094027	180094027	A	G	1	0	0	0	0	1	0	0	0	2972	188	7	5		5	CEP350	1	180094027	Missense_Mutation	SNP	A	C3N-01071_TP	7561435	180094027	68862395	19	23006											
HMCN1	0	.	GRCh38	chr1	186007241	186007241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgtactgtgtctaatgCagctggcaaacaagccaagg	13	8	10	10	0	1	0	0	0	1	0	1	0	1	0	2	2	5	4	2	2	6	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.4589C>T	p.Ala1530Val	p.A1530V	ENST00000271588	30/107	265	241	24	237	237	0	strelka-varscan-mutect	HMCN1,missense_variant,p.Ala1530Val,ENST00000271588,NM_031935.2;	T	ENST00000271588	Transcript	missense_variant	4818/18208	4589/16908	1530/5635	A/V	gCa/gTa		1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2	tolerated(0.16)		30/107		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	186007241	186007241	C	T	1	0	0	0	0	1	0	0	0	7111	710	25	3		3	HMCN1	1	186007241	Missense_Mutation	SNP	C	C3N-01071_TP	5913214	186007241	62949181	20	23007											
NEK7	0	.	GRCh38	chr1	198279032	198279032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcttggccggtttttcaGctcaaaaaccacagctgcac	9	10	10	12	1	2	0	2	0	0	0	2	0	2	0	2	3	4	5	2	3	2	3	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.560G>A	p.Ser187Asn	p.S187N	ENST00000367385	7/10	174	150	24	217	217	0	strelka-varscan-mutect	NEK7,missense_variant,p.Ser187Asn,ENST00000367385,NM_133494.2;NEK7,missense_variant,p.Ser187Asn,ENST00000538004,;NEK7,non_coding_transcript_exon_variant,,ENST00000493790,;	A	ENST00000367385	Transcript	missense_variant	902/4149	560/909	187/302	S/N	aGc/aAc		1		1	NEK7	HGNC	HGNC:13386	protein_coding	YES	CCDS1394.1	ENSP00000356355	Q8TDX7	A0A024R964	UPI0000073180	NM_133494.2	deleterious(0.04)		7/10		PROSITE_profiles:PS50011,hmmpanther:PTHR24362,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000654,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	71	198279032	198279032	G	A	1	0	0	0	0	1	0	0	0	10357	971	34	3		3	NEK7	1	198279032	Missense_Mutation	SNP	G	C3N-01071_TP	12271791	198279032	50677390	21	23008											
PKP1	0	.	GRCh38	chr1	201324466	201324466	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttgattgggctgaaggaAaagggcctgccacaaattgc	12	8	13	8	0	0	2	0	2	0	0	0	3	0	3	2	3	2	2	2	3	4	3	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.1782A>G	p.=	p.E594E	ENST00000263946	11/15	517	485	32	520	520	0	strelka-varscan-mutect	PKP1,synonymous_variant,p.=,ENST00000263946,NM_000299.3;PKP1,synonymous_variant,p.=,ENST00000367324,NM_001005337.2;PKP1,synonymous_variant,p.=,ENST00000352845,;PKP1,downstream_gene_variant,,ENST00000475988,;PKP1,upstream_gene_variant,,ENST00000477817,;	G	ENST00000263946	Transcript	synonymous_variant	2033/5447	1782/2244	594/747	E	gaA/gaG		1		1	PKP1	HGNC	HGNC:9023	protein_coding	YES	CCDS30966.1	ENSP00000263946	Q13835		UPI0000131B86	NM_000299.3			11/15		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF3,SMART_domains:SM00185,Superfamily_domains:SSF48371																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	71	201324466	201324466	A	G	1	0	0	0	0	0	0	0	1	12080	11	1	5		5	PKP1	1	201324466	Silent	SNP	A	C3N-01071_TP	3045434	201324466	47631956	22	23009											
USH2A	0	.	GRCh38	chr1	216070138	216070138	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaaattcagcactggcAgagggcatgcggggtggacg	10	7	16	8	2	1	2	1	1	0	1	1	3	1	3	0	5	2	3	0	5	1	2	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.6012T>G	p.=	p.S2004S	ENST00000307340	30/72	369	324	45	324	324	0	strelka-varscan	USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;RP11-22M7.2,upstream_gene_variant,,ENST00000446411,;RP11-22M7.2,upstream_gene_variant,,ENST00000430890,;RP11-22M7.2,upstream_gene_variant,,ENST00000445619,;	C	ENST00000307340	Transcript	synonymous_variant	6399/18883	6012/15609	2004/5202	S	tcT/tcG		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			30/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	71	216070138	216070138	A	C	1	0	0	0	0	0	0	0	1	17570	175	7	5		5	USH2A	1	216070138	Silent	SNP	A	C3N-01071_TP	14745672	216070138	32886284	23	23010											
USH2A	0	.	GRCh38	chr1	216175260	216175260	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacacttaccagtgaagTctgtattgactgggtgagtg	12	11	11	7	0	1	3	0	3	1	0	1	3	1	3	1	1	2	1	1	1	4	3			C3N-01071_TP	C3N-01071_NB	T	T																c.4619A>G	p.Asp1540Gly	p.D1540G	ENST00000307340	21/72	318	275	43	325	325	0	strelka-varscan	USH2A,missense_variant,p.Asp1540Gly,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Asp1540Gly,ENST00000366942,NM_007123.5;	C	ENST00000307340	Transcript	missense_variant	5006/18883	4619/15609	1540/5202	D/G	gAc/gGc	COSM5008491,COSM5008492,COSM5008493	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(0.15)		21/72		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,PROSITE_profiles:PS50853,SMART_domains:SM00282,Superfamily_domains:SSF49899											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												C	3	2	71	216175260	216175260	T	C	1	0	0	0	0	1	0	0	0	17570	1667	58	5		5	USH2A	1	216175260	Missense_Mutation	SNP	T	C3N-01071_TP	105122	216175260	32781162	24	23011											
SLC35F3	0	.	GRCh38	chr1	233905570	233905570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtcagcccccggagactgtCcgacatcagcccccagctcc	7	5	9	20	3	2	1	2	0	0	1	4	3	4	1	6	1	3	1	6	1	0	0	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.95C>A	p.Ser32Tyr	p.S32Y	ENST00000366618	2/8	176	167	9	184	184	0	strelka-varscan	SLC35F3,missense_variant,p.Ser32Tyr,ENST00000366618,NM_173508.3;	A	ENST00000366618	Transcript	missense_variant	240/2891	95/1473	32/490	S/Y	tCc/tAc		1		1	SLC35F3	HGNC	HGNC:23616	protein_coding	YES	CCDS1600.1	ENSP00000355577	Q8IY50		UPI000006DD13	NM_173508.3	deleterious_low_confidence(0)		2/8		hmmpanther:PTHR19346,hmmpanther:PTHR19346:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	71	233905570	233905570	C	A	1	0	0	0	0	1	0	0	0	14861	855	30	2		2	SLC35F3	1	233905570	Missense_Mutation	SNP	C	C3N-01071_TP	17730310	233905570	15050852	25	23012											
RYR2	0	.	GRCh38	chr1	237610989	237610989	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catatccctgaggaaaacagGtcagccccagtgaatccctg	12	7	9	13	0	1	2	1	2	0	0	3	3	3	3	4	2	2	0	4	2	4	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.4910+1G>C		p.X1637_splice	ENST00000366574		139	126	13	102	102	0	strelka-varscan	RYR2,splice_donor_variant,,ENST00000366574,NM_001035.2;RYR2,splice_donor_variant,,ENST00000360064,;	C	ENST00000366574	Transcript	splice_donor_variant	-/16562	4910/14904	1637/4967				1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2				36/104																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	71	237610989	237610989	G	C	1	0	0	0	0	0	0	1	0	14029	1275	44	4		4	RYR2	1	237610989	Splice_Site	SNP	G	C3N-01071_TP	3705419	237610989	11345433	26	23013											
OR2M4	0	.	GRCh38	chr1	248239488	248239488	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgctgcccttttacctcTatcctgcacagaaacatctg	8	14	6	13	0	2	1	0	0	2	1	3	1	3	1	3	0	5	3	3	0	3	4	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.560T>A	p.Leu187Gln	p.L187Q	ENST00000306687	1/1	182	160	22	208	208	0	strelka-varscan	OR2M4,missense_variant,p.Leu187Gln,ENST00000306687,NM_017504.1;	A	ENST00000306687	Transcript	missense_variant	560/936	560/936	187/311	L/Q	cTa/cAa		1		1	OR2M4	HGNC	HGNC:8270	protein_coding	YES	CCDS31108.1	ENSP00000306688	Q96R27	A0A126GV73	UPI000004B233	NM_017504.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF91,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	71	248239488	248239488	T	A	1	0	0	0	0	1	0	0	0	11090	1522	53	4		4	OR2M4	1	248239488	Missense_Mutation	SNP	T	C3N-01071_TP	10628499	248239488	716934	27	23014											
NBAS	0	.	GRCh38	chr2	15232470	15232470	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacaacaccttccaggaccTtcagtgggtcccttggccca	9	8	8	16	0	1	0	1	0	0	0	3	1	3	1	5	3	2	0	5	3	2	3	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.6188A>T	p.Lys2063Met	p.K2063M	ENST00000281513	47/52	284	250	34	299	299	0	strelka-varscan-mutect	NBAS,missense_variant,p.Lys2063Met,ENST00000281513,NM_015909.3;NBAS,missense_variant,p.Lys1111Met,ENST00000442506,;NBAS,missense_variant,p.Lys155Met,ENST00000417461,;	A	ENST00000281513	Transcript	missense_variant	6214/7281	6188/7116	2063/2371	K/M	aAg/aTg		1		-1	NBAS	HGNC	HGNC:15625	protein_coding	YES	CCDS1685.1	ENSP00000281513	A2RRP1		UPI00001AEA68	NM_015909.3	deleterious(0.01)		47/52		hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	15232470	15232470	T	A	1	0	0	0	0	1	0	0	0	10197	1609	56	4		4	NBAS	2	15232470	Missense_Mutation	SNP	T	C3N-01071_TP		15232470	226961059	28	23015											
TDRD15	0	.	GRCh38	chr2	21140837	21140837	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggacagcttggtatagaaTtgtatgatggatctcaatat	13	14	10	4	0	1	2	1	1	1	1	2	4	1	4	0	3	1	3	0	3	6	6	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.3370T>C	p.=	p.L1124L	ENST00000405799	4/4	104	93	11	90	90	0	strelka-varscan-mutect	TDRD15,synonymous_variant,p.=,ENST00000405799,;TDRD15,synonymous_variant,p.=,ENST00000622654,;	C	ENST00000405799	Transcript	synonymous_variant	3700/6135	3370/5805	1124/1934	L	Ttg/Ctg		1		1	TDRD15	HGNC	HGNC:45037	protein_coding	YES	CCDS77385.1	ENSP00000384376	B5MCY1		UPI000173A3F5				4/4		hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	71	21140837	21140837	T	C	1	0	0	0	0	0	0	0	1	16141	1490	52	5		5	TDRD15	2	21140837	Silent	SNP	T	C3N-01071_TP	5908367	21140837	221052692	29	23016											
SLC30A3	0	.	GRCh38	chr2	27262847	27262847	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcctccggcgccaccgcgGtcccgggggctcaccaggcg	3	4	15	19	6	1	0	1	0	0	0	3	0	3	0	6	5	1	1	6	5	0	0	rs150529372		C3N-01071_TP	C3N-01071_NB	G	G																c.60C>T	p.=	p.D20D	ENST00000233535	1/8	94	85	9	106	106	0	strelka-varscan-mutect	SLC30A3,synonymous_variant,p.=,ENST00000233535,NM_003459.4;SLC30A3,synonymous_variant,p.=,ENST00000445870,;SLC30A3,intron_variant,,ENST00000426924,;SLC30A3,intron_variant,,ENST00000432351,;SLC30A3,intron_variant,,ENST00000424577,;SLC30A3,intron_variant,,ENST00000426569,;SLC30A3,upstream_gene_variant,,ENST00000450118,;SLC30A3,upstream_gene_variant,,ENST00000497341,;SLC30A3,upstream_gene_variant,,ENST00000486309,;	A	ENST00000233535	Transcript	synonymous_variant	413/2260	60/1167	20/388	D	gaC/gaT	rs150529372	1		-1	SLC30A3	HGNC	HGNC:11014	protein_coding	YES	CCDS1743.1	ENSP00000233535	Q99726		UPI000006D0B4	NM_003459.4			1/8		hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF30																	LOW	1	SNV	1			1										PASS		rs150529372	.												A	2	1	71	27262847	27262847	G	A	1	0	0	0	0	0	0	0	1	14826	1252	44	3		3	SLC30A3	2	27262847	Silent	SNP	G	C3N-01071_TP	6122010	27262847	214930682	30	23017											
BIRC6	0	.	GRCh38	chr2	32439642	32439642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taaaacaccagagtaacaagGgttattcacttgcttcactt	14	12	6	9	0	2	1	2	0	0	1	2	1	2	1	1	1	3	3	1	1	5	7	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.3766G>A	p.Gly1256Ser	p.G1256S	ENST00000421745	16/74	191	177	14	191	191	0	strelka-varscan	BIRC6,missense_variant,p.Gly1256Ser,ENST00000421745,NM_016252.3;BIRC6,missense_variant,p.Gly142Ser,ENST00000444173,;BIRC6,missense_variant,p.Gly83Ser,ENST00000431454,;BIRC6,upstream_gene_variant,,ENST00000483194,;	A	ENST00000421745	Transcript	missense_variant	3900/15703	3766/14574	1256/4857	G/S	Ggt/Agt		1		1	BIRC6	HGNC	HGNC:13516	protein_coding	YES	CCDS33175.2	ENSP00000393596	Q9NR09		UPI000159689D	NM_016252.3	tolerated(0.48)		16/74																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	32439642	32439642	G	A	1	0	0	0	0	1	0	0	0	1589	1232	43	3		3	BIRC6	2	32439642	Missense_Mutation	SNP	G	C3N-01071_TP	5176795	32439642	209753887	31	23018											
SIX3	0	.	GRCh38	chr2	44944661	44944661	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagagtcgccgtccacggcGgccagcccgaccaccagcgt	7	3	13	18	6	0	1	0	0	0	1	2	2	1	1	6	2	2	1	6	2	0	0	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.900G>T	p.=	p.A300A	ENST00000260653	2/2	331	304	27	235	235	0	strelka-varscan	SIX3,synonymous_variant,p.=,ENST00000260653,NM_005413.3;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;Six3os1_7,downstream_gene_variant,,ENST00000621512,;	T	ENST00000260653	Transcript	synonymous_variant	1107/2523	900/999	300/332	A	gcG/gcT		1		1	SIX3	HGNC	HGNC:10889	protein_coding	YES	CCDS1821.1	ENSP00000260653	O95343		UPI00001359C4	NM_005413.3			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR10390:SF31,hmmpanther:PTHR10390																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	71	44944661	44944661	G	T	1	0	0	0	0	0	0	0	1	14611	1103	39	1		1	SIX3	2	44944661	Silent	SNP	G	C3N-01071_TP	12505019	44944661	197248868	32	23019											
CLHC1	0	.	GRCh38	chr2	55206337	55206337	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttgctgcataacaagcTgccttttcatattcaccaag	10	14	6	11	0	2	0	2	0	0	0	2	0	2	0	2	0	5	4	2	0	4	6	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.939A>T	p.=	p.A313A	ENST00000401408	9/13	258	240	18	251	251	0	strelka-varscan	CLHC1,synonymous_variant,p.=,ENST00000401408,NM_152385.2;CLHC1,synonymous_variant,p.=,ENST00000407122,;CLHC1,synonymous_variant,p.=,ENST00000406076,NM_001135598.1;CLHC1,non_coding_transcript_exon_variant,,ENST00000487320,;CLHC1,non_coding_transcript_exon_variant,,ENST00000466020,;CLHC1,intron_variant,,ENST00000494539,;CLHC1,3_prime_UTR_variant,,ENST00000411884,;CLHC1,intron_variant,,ENST00000428621,;	A	ENST00000401408	Transcript	synonymous_variant	1285/2248	939/1761	313/586	A	gcA/gcT		1		-1	CLHC1	HGNC	HGNC:26453	protein_coding	YES	CCDS33201.1	ENSP00000384869	Q8NHS4		UPI00004DEC65	NM_152385.2			9/13		Gene3D:1bpoA02,Pfam_domain:PF13838,PIRSF_domain:PIRSF037469,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF11,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	71	55206337	55206337	T	A	1	0	0	0	0	0	0	0	1	3293	1567	55	4		4	CLHC1	2	55206337	Silent	SNP	T	C3N-01071_TP	10261676	55206337	186987192	33	23020											
CNRIP1	0	.	GRCh38	chr2	68319230	68319230	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcactcactcgacctgCagcgtgctgggtttaatctt	6	11	9	15	3	2	0	1	0	1	0	3	1	2	0	3	1	3	4	3	1	1	3	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.171G>T	p.=	p.L57L	ENST00000263655	1/3	69	60	9	63	63	0	strelka-varscan	CNRIP1,synonymous_variant,p.=,ENST00000263655,NM_015463.2;CNRIP1,synonymous_variant,p.=,ENST00000409862,;CNRIP1,synonymous_variant,p.=,ENST00000409559,NM_001111101.1;CNRIP1,non_coding_transcript_exon_variant,,ENST00000481714,;	A	ENST00000263655	Transcript	synonymous_variant	777/1953	171/495	57/164	L	ctG/ctT		1		-1	CNRIP1	HGNC	HGNC:24546	protein_coding	YES	CCDS1886.1	ENSP00000263655	Q96F85		UPI0000070FBE	NM_015463.2			1/3		Pfam_domain:PF15043,hmmpanther:PTHR31952																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	71	68319230	68319230	C	A	1	0	0	0	0	0	0	0	1	3415	697	25	2		2	CNRIP1	2	68319230	Silent	SNP	C	C3N-01071_TP	13112893	68319230	173874299	34	23021											
SLC4A5	0	.	GRCh38	chr2	74233471	74233471	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatgaagatcaggatggtCaccagcagggcgggcaggat	11	6	15	9	1	2	2	2	1	0	1	3	4	3	4	2	5	1	2	2	5	1	0	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.2526G>A	p.=	p.V842V	ENST00000346834	20/29	181	168	13	157	157	0	strelka-varscan	SLC4A5,synonymous_variant,p.=,ENST00000394019,NM_133478.2;SLC4A5,synonymous_variant,p.=,ENST00000346834,NM_021196.3;SLC4A5,synonymous_variant,p.=,ENST00000423644,;SLC4A5,synonymous_variant,p.=,ENST00000377634,;SLC4A5,synonymous_variant,p.=,ENST00000358683,;SLC4A5,synonymous_variant,p.=,ENST00000377632,;SLC4A5,synonymous_variant,p.=,ENST00000425249,;SLC4A5,non_coding_transcript_exon_variant,,ENST00000483195,;RP11-287D1.3,3_prime_UTR_variant,,ENST00000451608,;	T	ENST00000346834	Transcript	synonymous_variant	2762/6233	2526/3414	842/1137	V	gtG/gtA		1		-1	SLC4A5	HGNC	HGNC:18168	protein_coding	YES	CCDS1936.1	ENSP00000251768	Q9BY07		UPI000013C97B	NM_021196.3			20/29		Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF20,TIGRFAM_domain:TIGR00834,Transmembrane_helices:TMhelix																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	71	74233471	74233471	C	T	1	0	0	0	0	0	0	0	1	14934	813	29	3		3	SLC4A5	2	74233471	Silent	SNP	C	C3N-01071_TP	5914241	74233471	167960058	35	23022											
ST3GAL5	0	.	GRCh38	chr2	85863361	85863361	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcccaggggcggtacttaCttgaggatgtcttttaataa	10	13	11	7	1	1	1	0	1	1	0	2	2	2	2	1	4	2	1	1	4	4	6	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.206+1G>C		p.X69_splice	ENST00000377332		341	294	47	318	318	0	strelka-varscan	ST3GAL5,splice_donor_variant,,ENST00000377332,NM_003896.3;ST3GAL5,splice_donor_variant,,ENST00000393805,;ST3GAL5,splice_donor_variant,,ENST00000393808,NM_001042437.1;ST3GAL5,splice_donor_variant,,ENST00000455892,;ST3GAL5,splice_donor_variant,,ENST00000484728,;ST3GAL5,splice_donor_variant,,ENST00000461892,;ST3GAL5,splice_donor_variant,,ENST00000461199,;ST3GAL5,splice_donor_variant,,ENST00000473122,;ST3GAL5,downstream_gene_variant,,ENST00000490946,;ST3GAL5,splice_donor_variant,,ENST00000306262,;ST3GAL5,splice_donor_variant,,ENST00000433665,;	G	ENST00000377332	Transcript	splice_donor_variant	-/2366	206/1257	69/418				1		-1	ST3GAL5	HGNC	HGNC:10872	protein_coding	YES	CCDS1986.2	ENSP00000366549	Q9UNP4		UPI000015F319	NM_003896.3				2/6																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	71	85863361	85863361	C	G	1	0	0	0	0	0	0	1	0	15596	579	20	4		4	ST3GAL5	2	85863361	Splice_Site	SNP	C	C3N-01071_TP	11629890	85863361	156330168	36	23023											
CNNM4	0	.	GRCh38	chr2	96797610	96797610	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaagtgaaaatctccccGcagctcctcctggccgctca	9	8	7	17	2	3	1	2	1	1	0	6	1	5	1	5	1	1	3	5	1	3	0	rs764568597		C3N-01071_TP	C3N-01071_NB	G	G																c.1644G>C	p.=	p.P548P	ENST00000377075	3/7	701	661	40	528	528	0	strelka-varscan	CNNM4,synonymous_variant,p.=,ENST00000377075,NM_020184.3;MIR3127,upstream_gene_variant,,ENST00000583925,;CNNM4,non_coding_transcript_exon_variant,,ENST00000496186,;CNNM4,non_coding_transcript_exon_variant,,ENST00000493384,;CNNM4,non_coding_transcript_exon_variant,,ENST00000482716,;	C	ENST00000377075	Transcript	synonymous_variant	1742/4800	1644/2328	548/775	P	ccG/ccC	rs764568597,COSM2825800,COSM4316866	1		1	CNNM4	HGNC	HGNC:105	protein_coding	YES	CCDS2024.2	ENSP00000366275	Q6P4Q7		UPI0000207C95	NM_020184.3			3/7		hmmpanther:PTHR12064,hmmpanther:PTHR12064:SF26											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		.	.												C	2	2	71	96797610	96797610	G	C	1	0	0	0	0	0	0	0	1	3395	1074	38	4		4	CNNM4	2	96797610	Silent	SNP	G	C3N-01071_TP	10934249	96797610	145395919	37	23024											
MRPS9	0	.	GRCh38	chr2	105049342	105049342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaactttcactcaagaaGatattgacgtaagtacagtt	16	11	7	7	1	2	4	2	1	0	3	2	4	2	4	0	0	2	3	0	0	6	6	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.307G>A	p.Asp103Asn	p.D103N	ENST00000258455	2/11	120	108	12	198	198	0	strelka-varscan	MRPS9,missense_variant,p.Asp103Asn,ENST00000258455,NM_182640.2;	A	ENST00000258455	Transcript	missense_variant	417/1500	307/1191	103/396	D/N	Gat/Aat		1		1	MRPS9	HGNC	HGNC:14501	protein_coding	YES	CCDS2065.1	ENSP00000258455	P82933		UPI00000467F9	NM_182640.2	deleterious(0.03)		2/11		hmmpanther:PTHR21569,hmmpanther:PTHR21569:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	105049342	105049342	G	A	1	0	0	0	0	1	0	0	0	9826	942	33	3		3	MRPS9	2	105049342	Missense_Mutation	SNP	G	C3N-01071_TP	8251732	105049342	137144187	38	23025											
GPR45	0	.	GRCh38	chr2	105242859	105242859	+	Frame_Shift_Del	DEL	C	C	-																															aatcaaaaaattccgcgaggCctgcatagagttgctgcccc																								rs755001691		C3N-01071_TP	C3N-01071_NB	C	C																c.1002delC	p.Cys335AlafsTer2	p.C335Afs*2	ENST00000258456	1/1	333	313	20	293	293	0	sindel-varindel-pindel	GPR45,frameshift_variant,p.Cys335AlafsTer2,ENST00000258456,NM_007227.3;	-	ENST00000258456	Transcript	frameshift_variant	1117/1307	1001/1119	334/372	A/X	gCc/gc	rs755001691	1		1	GPR45	HGNC	HGNC:4503	protein_coding	YES	CCDS2066.1	ENSP00000258456	Q9Y5Y3	B5B0C1	UPI000013CFD3	NM_007227.3			1/1		hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF4,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	HIGH	1	deletion		1		1										PASS		.	.												-	7	5	71	105242859	105242859	C	-	1	0	1	0	1	0	0	0	0	6581	739	26	0		0	GPR45	2	105242859	Frame_Shift_Del	DEL	C	C3N-01071_TP	193517	105242859	136950670	39	23026											
TGFBRAP1	0	.	GRCh38	chr2	105269541	105269541	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgtgaaagagttgctGgcggtggggtgggtctcggc	5	9	20	7	3	1	2	0	1	1	1	2	2	1	2	0	6	2	2	0	6	1	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.2137C>T	p.Gln713Ter	p.Q713*	ENST00000393359	11/12	129	115	14	146	146	0	strelka-varscan	TGFBRAP1,stop_gained,p.Gln713Ter,ENST00000393359,NM_001142621.2,NM_004257.5;TGFBRAP1,stop_gained,p.Gln713Ter,ENST00000595531,;TGFBRAP1,stop_gained,p.Gln713Ter,ENST00000258449,;	A	ENST00000393359	Transcript	stop_gained	2564/5979	2137/2583	713/860	Q/*	Cag/Tag		1		-1	TGFBRAP1	HGNC	HGNC:16836	protein_coding	YES	CCDS2067.1	ENSP00000377027	Q8WUH2		UPI0000072CA9	NM_001142621.2,NM_004257.5			11/12		PROSITE_profiles:PS50236,hmmpanther:PTHR12894:SF17,hmmpanther:PTHR12894																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	71	105269541	105269541	G	A	1	0	0	0	0	0	1	0	0	16257	1357	47	3		3	TGFBRAP1	2	105269541	Nonsense_Mutation	SNP	G	C3N-01071_TP	26682	105269541	136923988	40	23027											
GLI2	0	.	GRCh38	chr2	120988392	120988392	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccgccgctcctccggcatCtccccctacttctccagccg	4	8	7	22	4	2	0	0	0	2	0	6	0	4	0	8	1	3	2	8	1	1	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.2478C>G	p.Ile826Met	p.I826M	ENST00000452319	14/14	82	75	7	67	67	0	strelka-varscan-mutect	GLI2,missense_variant,p.Ile826Met,ENST00000452319,;GLI2,missense_variant,p.Ile826Met,ENST00000361492,NM_005270.4;GLI2,downstream_gene_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000438299,;GLI2,3_prime_UTR_variant,,ENST00000452692,;GLI2,3_prime_UTR_variant,,ENST00000437950,;	G	ENST00000452319	Transcript	missense_variant	2538/6799	2478/4761	826/1586	I/M	atC/atG		1		1	GLI2	HGNC	HGNC:4318	protein_coding	YES	CCDS33283.1	ENSP00000390436	P10070		UPI000053FCB4		deleterious(0)		14/14		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF73																	MODERATE	1	SNV	5			1										PASS		rs1449592421	.												G	3	3	71	120988392	120988392	C	G	1	0	0	0	0	1	0	0	0	6316	903	32	4		4	GLI2	2	120988392	Missense_Mutation	SNP	C	C3N-01071_TP	15718851	120988392	121205137	41	23028											
CNTNAP5	0	.	GRCh38	chr2	124647864	124647864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttggactacgggggcagCatggaacagctggaggccgt	8	6	17	10	2	0	0	0	0	0	0	0	3	0	3	2	6	4	3	2	6	2	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1980C>A	p.Ser660Arg	p.S660R	ENST00000431078	13/24	191	180	11	172	172	0	strelka-mutect	CNTNAP5,missense_variant,p.Ser660Arg,ENST00000431078,NM_130773.3;	A	ENST00000431078	Transcript	missense_variant	2344/5284	1980/3921	660/1306	S/R	agC/agA		1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3	deleterious(0.02)		13/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF665																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	124647864	124647864	C	A	1	0	0	0	0	1	0	0	0	3432	709	25	2		2	CNTNAP5	2	124647864	Missense_Mutation	SNP	C	C3N-01071_TP	3659472	124647864	117545665	42	23029											
LRP1B	0	.	GRCh38	chr2	140238223	140238223	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgatctacctcatacaTgttataagatggattgccaa	14	13	6	8	0	3	2	2	1	1	1	3	3	3	3	2	1	3	1	2	1	5	5	rs749162634		C3N-01071_TP	C3N-01071_NB	T	T																c.13489A>G	p.Met4497Val	p.M4497V	ENST00000389484	89/91	186	170	16	153	153	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Met4497Val,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Met729Val,ENST00000437977,;LRP1B,missense_variant,p.Met267Val,ENST00000442974,;uc_338,upstream_gene_variant,,ENST00000622722,;	C	ENST00000389484	Transcript	missense_variant	14461/16535	13489/13800	4497/4599	M/V	Atg/Gtg	rs749162634	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0.02)		89/91																			MODERATE	1	SNV	1			1										PASS		rs749162634	.												C	3	2	71	140238223	140238223	T	C	1	0	0	0	0	1	0	0	0	8850	1464	51	5		5	LRP1B	2	140238223	Missense_Mutation	SNP	T	C3N-01071_TP	15590359	140238223	101955306	43	23030											
LRP1B	0	.	GRCh38	chr2	140350890	140350890	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtactccaaataatcatAtctctttgataatatacatc	15	15	3	8	0	2	2	1	2	1	0	5	2	3	2	1	0	2	1	1	0	7	7	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.11799T>A	p.Asp3933Glu	p.D3933E	ENST00000389484	77/91	192	179	13	215	215	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Asp3933Glu,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Asp165Glu,ENST00000437977,;	T	ENST00000389484	Transcript	missense_variant	12771/16535	11799/13800	3933/4599	D/E	gaT/gaA		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(0.4)		77/91		PROSITE_profiles:PS51120,Gene3D:2.120.10.30,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	140350890	140350890	A	T	1	0	0	0	0	1	0	0	0	8850	446	16	4		4	LRP1B	2	140350890	Missense_Mutation	SNP	A	C3N-01071_TP	112667	140350890	101842639	44	23031											
LRP1B	0	.	GRCh38	chr2	140923002	140923002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttggttttgtggtcacaCaatcgtatggtaccattgca	10	14	9	8	1	1	0	1	0	0	0	2	0	1	0	1	3	3	4	1	3	4	6	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.3282G>T	p.Leu1094Phe	p.L1094F	ENST00000389484	21/91	181	166	15	129	128	1	strelka-varscan-mutect	LRP1B,missense_variant,p.Leu1094Phe,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Leu239Phe,ENST00000434794,;	A	ENST00000389484	Transcript	missense_variant	4254/16535	3282/13800	1094/4599	L/F	ttG/ttT		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	tolerated(0.3)		21/91		PROSITE_profiles:PS50068,hmmpanther:PTHR10529:SF105,hmmpanther:PTHR10529,SMART_domains:SM00192																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	140923002	140923002	C	A	1	0	0	0	0	1	0	0	0	8850	477	17	2		2	LRP1B	2	140923002	Missense_Mutation	SNP	C	C3N-01071_TP	572112	140923002	101270527	45	23032											
NR4A2	0	.	GRCh38	chr2	156329630	156329630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatctggcaactagacaccGgggtgccagggggcgattgc	8	6	16	11	2	1	1	0	0	1	1	1	2	1	1	2	5	3	2	2	5	2	2	rs539532822		C3N-01071_TP	C3N-01071_NB	G	G																c.557C>A	p.Pro186Gln	p.P186Q	ENST00000339562	3/8	92	83	9	84	84	0	strelka-varscan-mutect	NR4A2,missense_variant,p.Pro186Gln,ENST00000339562,NM_006186.3;NR4A2,missense_variant,p.Pro186Gln,ENST00000409572,;NR4A2,missense_variant,p.Pro123Gln,ENST00000426264,;NR4A2,missense_variant,p.Pro186Gln,ENST00000409108,;NR4A2,missense_variant,p.Pro123Gln,ENST00000429376,;NR4A2,missense_variant,p.Pro186Gln,ENST00000424077,;NR4A2,intron_variant,,ENST00000406048,;NR4A2,downstream_gene_variant,,ENST00000421709,;NR4A2,missense_variant,p.Pro123Gln,ENST00000417972,;NR4A2,missense_variant,p.Pro123Gln,ENST00000417764,;	T	ENST00000339562	Transcript	missense_variant	920/3472	557/1797	186/598	P/Q	cCg/cAg	rs539532822	1		-1	NR4A2	HGNC	HGNC:7981	protein_coding	YES	CCDS2201.1	ENSP00000344479	P43354	F1D8N6	UPI0000036A18	NM_006186.3	tolerated(0.1)		3/8		hmmpanther:PTHR24085,hmmpanther:PTHR24085:SF0,Prints_domain:PR01287																	MODERATE	1	SNV	1			1										PASS		rs539532822	.												T	3	4	71	156329630	156329630	G	T	1	0	0	0	0	1	0	0	0	10689	1116	39	1		1	NR4A2	2	156329630	Missense_Mutation	SNP	G	C3N-01071_TP	15406628	156329630	85863899	46	23033											
MFSD6	0	.	GRCh38	chr2	190436288	190436288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcctatggctctctctatCcccttttgcctgtgtattac	4	17	6	14	0	2	0	0	0	2	0	4	0	3	0	4	1	3	2	4	1	4	6	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.259C>T	p.Pro87Ser	p.P87S	ENST00000392328	3/8	329	311	18	234	234	0	strelka-varscan-mutect	MFSD6,missense_variant,p.Pro87Ser,ENST00000392328,NM_017694.3;MFSD6,missense_variant,p.Pro87Ser,ENST00000281416,;MFSD6,missense_variant,p.Pro87Ser,ENST00000445546,;MFSD6,missense_variant,p.Pro87Ser,ENST00000432036,;MFSD6,upstream_gene_variant,,ENST00000434582,;MFSD6,downstream_gene_variant,,ENST00000417958,;	T	ENST00000392328	Transcript	missense_variant	583/4797	259/2376	87/791	P/S	Ccc/Tcc		1		1	MFSD6	HGNC	HGNC:24711	protein_coding	YES	CCDS2306.1	ENSP00000376141	Q6ZSS7		UPI000022BD91	NM_017694.3	deleterious(0)		3/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR16172,hmmpanther:PTHR16172:SF2,Pfam_domain:PF12832,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	71	190436288	190436288	C	T	1	0	0	0	0	1	0	0	0	9493	855	30	3		3	MFSD6	2	190436288	Missense_Mutation	SNP	C	C3N-01071_TP	34106658	190436288	51757241	47	23034											
FZD7	0	.	GRCh38	chr2	202035573	202035573	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacgtggccggcttccttcTagaggaccgcgccgtgtgcg	4	8	15	14	6	1	1	0	0	1	1	2	2	2	2	4	3	1	2	4	3	1	3	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.926T>C	p.Leu309Pro	p.L309P	ENST00000286201	1/1	195	176	19	159	159	0	strelka-varscan-mutect	FZD7,missense_variant,p.Leu309Pro,ENST00000286201,NM_003507.1;RP11-107N15.1,upstream_gene_variant,,ENST00000608741,;	C	ENST00000286201	Transcript	missense_variant	987/3859	926/1725	309/574	L/P	cTa/cCa		1		1	FZD7	HGNC	HGNC:4045	protein_coding	YES	CCDS2351.1	ENSP00000286201	O75084		UPI0000051051	NM_003507.1	deleterious(0.02)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF31,Pfam_domain:PF01534,SMART_domains:SM01330																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	71	202035573	202035573	T	C	1	0	0	0	0	1	0	0	0	6006	1522	53	5		5	FZD7	2	202035573	Missense_Mutation	SNP	T	C3N-01071_TP	11599285	202035573	40157956	48	23035											
CXCR2	0	.	GRCh38	chr2	218135425	218135425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacaatacagcaaactggcgGatgctgttacggatcctgcc	12	8	10	11	2	0	0	0	0	0	0	1	2	1	2	2	3	7	3	2	3	5	2			C3N-01071_TP	C3N-01071_NB	G	G																c.624G>A	p.=	p.R208R	ENST00000318507	3/3	232	210	22	191	191	0	strelka-varscan-mutect	CXCR2,synonymous_variant,p.=,ENST00000318507,NM_001168298.1,NM_001557.3;CXCR2,downstream_gene_variant,,ENST00000453237,;CXCR2,downstream_gene_variant,,ENST00000428565,;CXCR2,downstream_gene_variant,,ENST00000454148,;CXCR2,downstream_gene_variant,,ENST00000415392,;CXCR2,downstream_gene_variant,,ENST00000449014,;CXCR2,downstream_gene_variant,,ENST00000418878,;	A	ENST00000318507	Transcript	synonymous_variant	1051/2879	624/1083	208/360	R	cgG/cgA	COSM3577633	1		1	CXCR2	HGNC	HGNC:6027	protein_coding	YES	CCDS2408.1	ENSP00000319635	P25025	Q53PC4	UPI000004358A	NM_001168298.1,NM_001557.3			3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00427,PROSITE_profiles:PS50262,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF632,Superfamily_domains:SSF81321											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	71	218135425	218135425	G	A	1	0	0	0	0	0	0	0	1	3902	1161	41	3		3	CXCR2	2	218135425	Silent	SNP	G	C3N-01071_TP	16099852	218135425	24058104	49	23036											
SPEG	0	.	GRCh38	chr2	219484654	219484654	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacgctcggtgcaggacctCagggctgtcggagagcctgg	6	7	16	12	3	2	1	2	0	0	1	4	3	2	2	2	5	2	3	2	5	0	0	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.7191C>T	p.=	p.L2397L	ENST00000312358	30/41	156	144	12	203	203	0	strelka-varscan-mutect	SPEG,synonymous_variant,p.=,ENST00000312358,NM_005876.4;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	T	ENST00000312358	Transcript	synonymous_variant	7323/10782	7191/9804	2397/3267	L	ctC/ctT		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4			30/41		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF728																	LOW		SNV	5			1										PASS		.	.												T	2	4	71	219484654	219484654	C	T	1	0	0	0	0	0	0	0	1	15387	813	29	3		3	SPEG	2	219484654	Silent	SNP	C	C3N-01071_TP	1349229	219484654	22708875	50	23037											
USP40	0	.	GRCh38	chr2	233496824	233496824	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatcagaagttctttcagTgttgcatcctgggaagacaa	12	12	9	8	0	3	2	2	0	1	2	4	3	4	3	1	1	1	3	1	1	4	4	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.2757A>T	p.=	p.T919T	ENST00000450966	23/31	173	155	18	105	105	0	strelka-varscan-mutect	USP40,synonymous_variant,p.=,ENST00000251722,;USP40,synonymous_variant,p.=,ENST00000450966,NM_018218.2;USP40,synonymous_variant,p.=,ENST00000427112,;USP40,synonymous_variant,p.=,ENST00000409945,;USP40,synonymous_variant,p.=,ENST00000430158,;USP40,non_coding_transcript_exon_variant,,ENST00000483216,;USP40,upstream_gene_variant,,ENST00000450940,;	A	ENST00000450966	Transcript	synonymous_variant	2757/5616	2757/3744	919/1247	T	acA/acT		1		-1	USP40	HGNC	HGNC:20069	protein_coding	YES	CCDS46547.1	ENSP00000415434	Q9NVE5		UPI0000232F06	NM_018218.2			23/31																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	71	233496824	233496824	T	A	1	0	0	0	0	0	0	0	1	17614	1683	59	4		4	USP40	2	233496824	Silent	SNP	T	C3N-01071_TP	14012170	233496824	8696705	51	23038											
COL6A3	0	.	GRCh38	chr2	237394840	237394840	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggccatccttcgagtgTccatcagttaacactacgat	11	10	8	12	2	1	0	1	0	0	0	4	2	3	0	3	1	2	2	3	1	3	3			C3N-01071_TP	C3N-01071_NB	T	T																c.456A>G	p.=	p.G152G	ENST00000295550	3/44	95	86	9	109	109	0	strelka-varscan-mutect	COL6A3,synonymous_variant,p.=,ENST00000295550,NM_004369.3;COL6A3,synonymous_variant,p.=,ENST00000433762,;COL6A3,intron_variant,,ENST00000353578,NM_057167.3;COL6A3,intron_variant,,ENST00000409809,;COL6A3,intron_variant,,ENST00000472056,NM_057166.4;COL6A3,intron_variant,,ENST00000347401,;COL6A3,intron_variant,,ENST00000392004,NM_057165.4;COL6A3,intron_variant,,ENST00000392003,NM_057164.4;	C	ENST00000295550	Transcript	synonymous_variant	909/10749	456/9534	152/3177	G	ggA/ggG	COSM1018374	1		-1	COL6A3	HGNC	HGNC:2213	protein_coding	YES	CCDS33412.1	ENSP00000295550	P12111	D9ZGF2	UPI0000456F39	NM_004369.3			3/44		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF74,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300											1						LOW	1	SNV	1		1	1										PASS		.	.												C	2	2	71	237394840	237394840	T	C	1	0	0	0	0	0	0	0	1	3490	1654	58	5		5	COL6A3	2	237394840	Silent	SNP	T	C3N-01071_TP	3898016	237394840	4798689	52	23039											
CROCC2	0	.	GRCh38	chr2	240949695	240949695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccctggcacagctccaaaGggagaaggtctgcttcccag	9	6	13	13	0	1	1	0	0	1	1	3	2	3	1	3	4	2	3	3	4	2	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.2645G>T	p.Arg882Met	p.R882M	ENST00000443866	17/32	110	104	6	75	75	0	strelka-mutect	CROCC2,missense_variant,p.Arg882Met,ENST00000443866,;AC104809.4,downstream_gene_variant,,ENST00000418218,;CROCC2,non_coding_transcript_exon_variant,,ENST00000480779,;	T	ENST00000443866	Transcript	missense_variant	2829/5382	2645/4968	882/1655	R/M	aGg/aTg		1		1	CROCC2	HGNC	HGNC:51677	protein_coding	YES		ENSP00000397968	H7BZ55		UPI0004F2364A		deleterious(0)		17/32		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159:SF16,hmmpanther:PTHR23159																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	71	240949695	240949695	G	T	1	0	0	0	0	1	0	0	0	3695	1000	35	2		2	CROCC2	2	240949695	Missense_Mutation	SNP	G	C3N-01071_TP	3554855	240949695	1243834	53	23040											
SNED1	0	.	GRCh38	chr2	241052398	241052398	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtgtgaatgggggcacCtgcgaggaccgggacacgga	8	5	18	10	4	0	1	0	1	0	0	0	5	0	4	3	5	1	1	3	5	1	0	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.2013C>A	p.=	p.T671T	ENST00000310397	15/32	50	44	6	40	40	0	strelka-varscan-mutect	SNED1,synonymous_variant,p.=,ENST00000310397,NM_001080437.1;SNED1,synonymous_variant,p.=,ENST00000405547,;SNED1,synonymous_variant,p.=,ENST00000401884,;SNED1,downstream_gene_variant,,ENST00000401644,;SNED1,downstream_gene_variant,,ENST00000431690,;AC005237.4,intron_variant,,ENST00000458377,;SNED1,non_coding_transcript_exon_variant,,ENST00000469006,;SNED1,downstream_gene_variant,,ENST00000483962,;	A	ENST00000310397	Transcript	synonymous_variant	2013/8174	2013/4242	671/1413	T	acC/acA		1		1	SNED1	HGNC	HGNC:24696	protein_coding	YES	CCDS46562.1	ENSP00000308893	Q8TER0		UPI0000DD7AB0	NM_001080437.1			15/32		PROSITE_profiles:PS50026,hmmpanther:PTHR24033,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196																	LOW		SNV	5			1										PASS		.	.												A	2	1	71	241052398	241052398	C	A	1	0	0	0	0	0	0	0	1	15166	668	24	2		2	SNED1	2	241052398	Silent	SNP	C	C3N-01071_TP	102703	241052398	1141131	54	23041											
GAL3ST2	0	.	GRCh38	chr2	241803884	241803884	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggccgcggcggctgcgcggGgaggtggagcggctgcgcgc	2	3	24	12	8	0	0	0	0	0	0	0	2	0	2	1	8	3	2	1	8	0	0	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.915G>T	p.=	p.G305G	ENST00000192314	4/4	61	56	5	58	58	0	strelka-varscan-mutect	GAL3ST2,synonymous_variant,p.=,ENST00000192314,NM_022134.2;NEU4,upstream_gene_variant,,ENST00000407683,NM_001167601.2,NM_001167600.2;AC114730.3,downstream_gene_variant,,ENST00000413820,;AC114730.5,upstream_gene_variant,,ENST00000437438,;	T	ENST00000192314	Transcript	synonymous_variant	1046/1370	915/1197	305/398	G	ggG/ggT		1		1	GAL3ST2	HGNC	HGNC:24869	protein_coding	YES	CCDS33427.1	ENSP00000192314	Q9H3Q3		UPI000049DF44	NM_022134.2			4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR14647,hmmpanther:PTHR14647:SF55,Pfam_domain:PF06990																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	71	241803884	241803884	G	T	1	0	0	0	0	0	0	0	1	6066	1219	43	2		2	GAL3ST2	2	241803884	Silent	SNP	G	C3N-01071_TP	751486	241803884	389645	55	23042											
TATDN2	0	.	GRCh38	chr3	10249484	10249484	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgggccctggtgtgggcgGggccgcctccaaaggctgcc	3	7	17	14	2	0	0	0	0	0	0	1	0	1	0	5	6	1	1	5	6	1	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.284G>C	p.Gly95Ala	p.G95A	ENST00000287652	2/8	111	100	11	118	118	0	strelka-varscan-mutect	TATDN2,missense_variant,p.Gly95Ala,ENST00000287652,NM_014760.3;TATDN2,missense_variant,p.Gly95Ala,ENST00000448281,;RP11-438J1.1,missense_variant,p.Gly38Ala,ENST00000450534,;RP11-438J1.1,missense_variant,p.Gly38Ala,ENST00000437082,;	C	ENST00000287652	Transcript	missense_variant	1335/5342	284/2286	95/761	G/A	gGg/gCg		1		1	TATDN2	HGNC	HGNC:28988	protein_coding	YES	CCDS33698.1	ENSP00000287652	Q93075	A0A024R2F3	UPI000013DEC1	NM_014760.3	tolerated(0.36)		2/8																			MODERATE	1	SNV	1			1										PASS		rs1328201926	.												C	3	2	71	10249484	10249484	G	C	1	0	0	0	0	1	0	0	0	15991	1232	43	4		4	TATDN2	3	10249484	Missense_Mutation	SNP	G	C3N-01071_TP		10249484	188046075	56	23043											
DCLK3	0	.	GRCh38	chr3	36737682	36737682	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttctcttctggcctcgtCttgggctccttttctagctt	1	20	8	12	1	4	0	0	0	4	0	7	0	5	0	2	2	1	3	2	2	1	8	rs753013409		C3N-01071_TP	C3N-01071_NB	C	C																c.978G>A	p.=	p.K326K	ENST00000416516	2/5	82	65	17	106	106	0	strelka-varscan-mutect	DCLK3,synonymous_variant,p.=,ENST00000636136,;DCLK3,synonymous_variant,p.=,ENST00000416516,NM_033403.1;	T	ENST00000416516	Transcript	synonymous_variant	1469/5344	978/1947	326/648	K	aaG/aaA	rs753013409	1		-1	DCLK3	HGNC	HGNC:19005	protein_coding	YES	CCDS43064.1	ENSP00000394484	Q9C098		UPI0000E2657D	NM_033403.1			2/5																			LOW	1	SNV	5			1										PASS		rs753013409	.												T	2	4	71	36737682	36737682	C	T	1	0	0	0	0	0	0	0	1	4095	912	32	3		3	DCLK3	3	36737682	Silent	SNP	C	C3N-01071_TP	26488198	36737682	161557877	57	23044											
MLH1	0	.	GRCh38	chr3	37049014	37049014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtcgaccctctcaggccaGcaggtacagtggtgatgcac	9	7	13	12	1	1	1	1	1	1	0	3	3	1	1	2	3	3	3	2	3	1	1			C3N-01071_TP	C3N-01071_NB	G	G																c.2100G>A	p.=	p.Q700Q	ENST00000231790	18/19	460	431	29	442	442	0	strelka-varscan-mutect	MLH1,synonymous_variant,p.=,ENST00000231790,NM_000249.3;MLH1,synonymous_variant,p.=,ENST00000458205,NM_001258274.1;MLH1,synonymous_variant,p.=,ENST00000536378,NM_001258273.1;MLH1,synonymous_variant,p.=,ENST00000435176,NM_001167617.1;MLH1,synonymous_variant,p.=,ENST00000539477,NM_001167619.1;MLH1,synonymous_variant,p.=,ENST00000455445,NM_001167618.1;MLH1,intron_variant,,ENST00000456676,NM_001258271.1;MLH1,intron_variant,,ENST00000413740,;MLH1,intron_variant,,ENST00000450420,;LRRFIP2,downstream_gene_variant,,ENST00000336686,NM_006309.3;LRRFIP2,downstream_gene_variant,,ENST00000354379,NM_017724.2;LRRFIP2,downstream_gene_variant,,ENST00000421276,NM_001134369.2;LRRFIP2,downstream_gene_variant,,ENST00000440230,;LRRFIP2,downstream_gene_variant,,ENST00000396428,NM_001282691.1;MLH1,downstream_gene_variant,,ENST00000616768,;LRRFIP2,downstream_gene_variant,,ENST00000496479,;LRRFIP2,downstream_gene_variant,,ENST00000460646,;	A	ENST00000231790	Transcript	synonymous_variant	2316/2752	2100/2271	700/756	Q	caG/caA	COSM1043975	1		1	MLH1	HGNC	HGNC:7127	protein_coding	YES	CCDS2663.1	ENSP00000231790	P40692		UPI0000000C7E	NM_000249.3			18/19		Pfam_domain:PF16413,hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF40											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	71	37049014	37049014	G	A	1	0	0	0	0	0	0	0	1	9584	985	34	3		3	MLH1	3	37049014	Silent	SNP	G	C3N-01071_TP	311332	37049014	161246545	58	23045											
RPL29	0	.	GRCh38	chr3	51994024	51994024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccttgatagcctcggCacgtgcactcatggccttgg	6	9	14	12	2	1	1	1	1	0	0	2	2	1	1	3	4	2	2	3	4	1	3			C3N-01071_TP	C3N-01071_NB	C	C																c.205G>A	p.Ala69Thr	p.A69T	ENST00000466397	4/4	119	111	8	98	98	0	varscan-mutect	RPL29,missense_variant,p.Ala69Thr,ENST00000466397,;RPL29,missense_variant,p.Ala69Thr,ENST00000294189,NM_000992.2;RPL29,missense_variant,p.Ala69Thr,ENST00000495383,;RPL29,missense_variant,p.Ala69Thr,ENST00000479017,;RPL29,missense_variant,p.Ala69Thr,ENST00000475248,;RPL29,missense_variant,p.Ala69Thr,ENST00000492277,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000637978,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000463937,;ACY1,downstream_gene_variant,,ENST00000636358,NM_001198895.1,NM_000666.2;ACY1,downstream_gene_variant,,ENST00000404366,;ACY1,downstream_gene_variant,,ENST00000476351,NM_001198898.1;ACY1,downstream_gene_variant,,ENST00000476854,NM_001198897.1;ACY1,downstream_gene_variant,,ENST00000494103,NM_001198896.1;ACY1,downstream_gene_variant,,ENST00000635797,;RPL29,downstream_gene_variant,,ENST00000481629,;ACY1,downstream_gene_variant,,ENST00000637149,;RPL29,3_prime_UTR_variant,,ENST00000480306,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000637778,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000637130,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000635937,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000636490,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000636826,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000637025,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000637730,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000637563,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000636718,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000635946,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000637696,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000636089,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000635951,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000636646,;ACY1,downstream_gene_variant,,ENST00000638136,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000463721,NM_001316331.1;ABHD14A-ACY1,downstream_gene_variant,,ENST00000636942,;ACY1,downstream_gene_variant,,ENST00000635941,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000637512,;ACY1,downstream_gene_variant,,ENST00000636880,;ACY1,downstream_gene_variant,,ENST00000491318,;ACY1,downstream_gene_variant,,ENST00000490244,;ACY1,downstream_gene_variant,,ENST00000637199,;ACY1,downstream_gene_variant,,ENST00000637034,;ACY1,downstream_gene_variant,,ENST00000637746,;RPL29,downstream_gene_variant,,ENST00000486565,;ACY1,downstream_gene_variant,,ENST00000638077,;	T	ENST00000466397	Transcript	missense_variant	346/742	205/480	69/159	A/T	Gcc/Acc	COSM1046807	1		-1	RPL29	HGNC	HGNC:10331	protein_coding	YES	CCDS2845.1	ENSP00000418868	P47914		UPI0000167B81		tolerated(0.07)		4/4		hmmpanther:PTHR12884											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	71	51994024	51994024	C	T	1	0	0	0	0	1	0	0	0	13830	710	25	3		3	RPL29	3	51994024	Missense_Mutation	SNP	C	C3N-01071_TP	14945010	51994024	146301535	59	23046											
OR5K4	0	.	GRCh38	chr3	98354562	98354562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggagggaagaggtaaaGcattttctacctgtgcatcc	12	9	11	9	0	1	1	0	0	1	1	2	3	2	3	3	3	3	3	3	3	5	4			C3N-01071_TP	C3N-01071_NB	G	G																c.709G>A	p.Ala237Thr	p.A237T	ENST00000354924	1/1	185	149	36	160	160	0	strelka-varscan-mutect	OR5K4,missense_variant,p.Ala237Thr,ENST00000354924,NM_001005517.1;RP11-325B23.2,intron_variant,,ENST00000508616,;	A	ENST00000354924	Transcript	missense_variant	709/966	709/966	237/321	A/T	Gca/Aca	COSM5441373	1		1	OR5K4	HGNC	HGNC:31291	protein_coding	YES	CCDS33802.1	ENSP00000347003	A6NMS3		UPI000044D411	NM_001005517.1	deleterious(0.03)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF198,Superfamily_domains:SSF81321											1						MODERATE		SNV			1	1										PASS		rs966876742	.												A	3	1	71	98354562	98354562	G	A	1	0	0	0	0	1	0	0	0	11239	971	34	3		3	OR5K4	3	98354562	Missense_Mutation	SNP	G	C3N-01071_TP	46360538	98354562	99940997	60	23047											
OR5K2	0	.	GRCh38	chr3	98497811	98497811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccgtggtggggaatattaGtttggtggcactgatattta	9	14	13	5	1	0	1	0	1	0	0	0	2	0	2	1	5	0	2	1	5	5	6	rs529759510		C3N-01071_TP	C3N-01071_NB	G	G																c.131G>T	p.Ser44Ile	p.S44I	ENST00000427338	1/1	315	281	34	219	219	0	varscan-mutect	OR5K2,missense_variant,p.Ser44Ile,ENST00000427338,NM_001004737.1;CLDND1,downstream_gene_variant,,ENST00000507874,;CLDND1,downstream_gene_variant,,ENST00000502288,;	T	ENST00000427338	Transcript	missense_variant	208/1060	131/951	44/316	S/I	aGt/aTt	rs529759510	1		1	OR5K2	HGNC	HGNC:14774	protein_coding	YES	CCDS33804.1	ENSP00000393889	Q8NHB8	A0A126GVB4	UPI000004B1DF	NM_001004737.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF311,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs529759510	.												T	3	4	71	98497811	98497811	G	T	1	0	0	0	0	1	0	0	0	11237	1029	36	2		2	OR5K2	3	98497811	Missense_Mutation	SNP	G	C3N-01071_TP	143249	98497811	99797748	61	23048											
GPR15	0	.	GRCh38	chr3	98532648	98532648	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttaattttcacctttttTgtccctttgttgagcattgt	5	21	6	9	0	1	1	1	1	0	0	2	1	2	1	3	0	1	2	3	0	1	9	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.615T>A	p.Phe205Leu	p.F205L	ENST00000284311	1/1	198	178	20	199	199	0	strelka-varscan-mutect	GPR15,missense_variant,p.Phe205Leu,ENST00000284311,NM_005290.2;CPOX,intron_variant,,ENST00000512905,;	A	ENST00000284311	Transcript	missense_variant	750/1252	615/1083	205/360	F/L	ttT/ttA		1		1	GPR15	HGNC	HGNC:4469	protein_coding	YES	CCDS2931.1	ENSP00000284311	P49685	B6V9G9	UPI0000000EAC	NM_005290.2	tolerated(0.2)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1479230848	.												A	3	1	71	98532648	98532648	T	A	1	0	0	0	0	1	0	0	0	6541	1809	63	4		4	GPR15	3	98532648	Missense_Mutation	SNP	T	C3N-01071_TP	34837	98532648	99762911	62	23049											
DCBLD2	0	.	GRCh38	chr3	98800598	98800598	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagagtcagcctgcagCactgtggtgacttctcttgg	6	11	12	12	0	2	2	1	1	1	1	3	2	2	2	2	2	4	3	2	2	0	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1839G>T	p.=	p.V613V	ENST00000326840	15/16	146	129	17	106	106	0	strelka-varscan-mutect	DCBLD2,synonymous_variant,p.=,ENST00000326840,NM_080927.3;DCBLD2,synonymous_variant,p.=,ENST00000326857,;ST3GAL6,downstream_gene_variant,,ENST00000394162,NM_001323352.1,NM_001323365.1,NM_006100.3;ST3GAL6,downstream_gene_variant,,ENST00000613264,NM_001271145.1;ST3GAL6,downstream_gene_variant,,ENST00000265261,NM_001271147.1,NM_001271142.1;RNU6-26P,downstream_gene_variant,,ENST00000383985,;ST3GAL6,intron_variant,,ENST00000491912,;ST3GAL6,upstream_gene_variant,,ENST00000495502,;DCBLD2,non_coding_transcript_exon_variant,,ENST00000496736,;ST3GAL6,downstream_gene_variant,,ENST00000486249,;DCBLD2,downstream_gene_variant,,ENST00000494614,;	A	ENST00000326840	Transcript	synonymous_variant	2202/6122	1839/2328	613/775	V	gtG/gtT		1		-1	DCBLD2	HGNC	HGNC:24627	protein_coding	YES	CCDS46878.1	ENSP00000321573	Q96PD2		UPI0000072ABB	NM_080927.3			15/16		hmmpanther:PTHR10127																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	71	98800598	98800598	C	A	1	0	0	0	0	0	0	0	1	4083	697	25	2		2	DCBLD2	3	98800598	Silent	SNP	C	C3N-01071_TP	267950	98800598	99494961	63	23050											
ABI3BP	0	.	GRCh38	chr3	100837145	100837145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatggtcattgagggagcttCagtttcaaatggaacaggct	11	12	12	6	0	3	1	3	1	0	0	3	3	3	3	0	4	2	3	0	4	3	4	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.2131G>A	p.Glu711Lys	p.E711K	ENST00000471714	27/67	180	167	13	212	212	0	strelka-varscan-mutect	ABI3BP,missense_variant,p.Glu711Lys,ENST00000471714,;ABI3BP,missense_variant,p.Glu711Lys,ENST00000495063,;ABI3BP,missense_variant,p.Glu118Lys,ENST00000495591,;ABI3BP,missense_variant,p.Glu77Lys,ENST00000533795,;ABI3BP,missense_variant,p.Glu81Lys,ENST00000534256,;ABI3BP,intron_variant,,ENST00000284322,NM_015429.3;ABI3BP,intron_variant,,ENST00000528490,;ABI3BP,intron_variant,,ENST00000466947,;ABI3BP,intron_variant,,ENST00000534413,;ABI3BP,intron_variant,,ENST00000528305,;ABI3BP,upstream_gene_variant,,ENST00000471901,;ABI3BP,downstream_gene_variant,,ENST00000533855,;ABI3BP,upstream_gene_variant,,ENST00000478235,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000487012,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000487249,;ABI3BP,intron_variant,,ENST00000470336,;	T	ENST00000471714	Transcript	missense_variant	2241/6783	2131/5334	711/1777	E/K	Gaa/Aaa		1		-1	ABI3BP	HGNC	HGNC:17265	protein_coding			ENSP00000420524		D3YTG3	UPI00004225FE		tolerated(0.07)		27/67		hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF10																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	71	100837145	100837145	C	T	1	0	0	0	0	1	0	0	0	101	835	29	3		3	ABI3BP	3	100837145	Missense_Mutation	SNP	C	C3N-01071_TP	2036547	100837145	97458414	64	23051											
CEP97	0	.	GRCh38	chr3	101758292	101758292	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaattaaatgatgcagcCaccaagcttcaggcctgttg	13	9	9	10	0	1	2	1	1	0	1	1	2	1	2	3	1	3	3	3	1	4	3	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1686C>T	p.=	p.A562A	ENST00000341893	9/11	356	332	24	263	263	0	strelka-varscan-mutect	CEP97,synonymous_variant,p.=,ENST00000341893,NM_024548.3;CEP97,synonymous_variant,p.=,ENST00000494050,NM_001303401.1;CEP97,downstream_gene_variant,,ENST00000462076,;CEP97,3_prime_UTR_variant,,ENST00000467655,;CEP97,non_coding_transcript_exon_variant,,ENST00000489172,;	T	ENST00000341893	Transcript	synonymous_variant	2438/8361	1686/2598	562/865	A	gcC/gcT		1		1	CEP97	HGNC	HGNC:26244	protein_coding	YES	CCDS2944.1	ENSP00000342510	Q8IW35		UPI0000074569	NM_024548.3			9/11		PROSITE_profiles:PS50096																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	71	101758292	101758292	C	T	1	0	0	0	0	0	0	0	1	2989	581	21	3		3	CEP97	3	101758292	Silent	SNP	C	C3N-01071_TP	921147	101758292	96537267	65	23052											
MORC1	0	.	GRCh38	chr3	109005072	109005072	+	Missense_Mutation	SNP	G	G	T																															aagaaacaataataatacctGggatctctcagctagtttga																								novel		C3N-01071_TP	C3N-01071_NB	G	G																c.2011C>A	p.Gln671Lys	p.Q671K	ENST00000232603	19/28	107	94	13	91	91	0	strelka-varscan-mutect	MORC1,missense_variant,p.Gln671Lys,ENST00000232603,NM_014429.3;MORC1,missense_variant,p.Gln650Lys,ENST00000483760,;	T	ENST00000232603	Transcript	missense_variant,splice_region_variant	2094/3764	2011/2955	671/984	Q/K	Cag/Aag		1		-1	MORC1	HGNC	HGNC:7198	protein_coding	YES	CCDS2955.1	ENSP00000232603	Q86VD1		UPI000013C964	NM_014429.3	tolerated(0.09)		19/28		hmmpanther:PTHR23337:SF6,hmmpanther:PTHR23337																	MODERATE	1	SNV	1			1										PASS		rs1368634632	.												T	3	4	71	109005072	109005072	G	T	1	0	0	0	0	1	0	0	0	9665	1362	47	2		2	MORC1	3	109005072	Missense_Mutation	SNP	G	C3N-01071_TP	7246780	109005072	89290487	66	23053	485	2									
MORC1	0	.	GRCh38	chr3	109005073	109005073	+	Silent	SNP	G	G	T																															agaaacaataataatacctgGgatctctcagctagtttgac																								novel		C3N-01071_TP	C3N-01071_NB	G	G																c.2010C>A	p.=	p.S670S	ENST00000232603	19/28	106	92	14	91	91	0	strelka-varscan-mutect	MORC1,synonymous_variant,p.=,ENST00000232603,NM_014429.3;MORC1,synonymous_variant,p.=,ENST00000483760,;	T	ENST00000232603	Transcript	synonymous_variant	2093/3764	2010/2955	670/984	S	tcC/tcA		1		-1	MORC1	HGNC	HGNC:7198	protein_coding	YES	CCDS2955.1	ENSP00000232603	Q86VD1		UPI000013C964	NM_014429.3			19/28		hmmpanther:PTHR23337:SF6,hmmpanther:PTHR23337																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	71	109005073	109005073	G	T	1	0	0	0	0	0	0	0	1	9665	1246	43	2		2	MORC1	3	109005073	Silent	SNP	G	C3N-01071_TP	1	109005073	89290486	67	23054	485	2									
TMPRSS7	0	.	GRCh38	chr3	112057052	112057052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaactcttggcatagcaCtgaaattctataactattca	14	14	4	9	0	4	1	2	1	2	0	4	1	4	1	0	1	3	2	0	1	7	8	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.853C>G	p.Leu285Val	p.L285V	ENST00000617607	7/15	144	133	11	114	114	0	strelka-mutect	TMPRSS7,missense_variant,p.Leu411Val,ENST00000452346,;TMPRSS7,missense_variant,p.Leu285Val,ENST00000617607,;TMPRSS7,missense_variant,p.Leu285Val,ENST00000419127,NM_001042575.2;TMPRSS7,3_prime_UTR_variant,,ENST00000435737,;	G	ENST00000617607	Transcript	missense_variant	891/2377	853/2154	285/717	L/V	Ctg/Gtg		1		1	TMPRSS7	HGNC	HGNC:30846	protein_coding	YES	CCDS43129.2	ENSP00000478830	Q7RTY8		UPI000192A2F1		tolerated(0.5)		7/15		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	112057052	112057052	C	G	1	0	0	0	0	1	0	0	0	16728	564	20	4		4	TMPRSS7	3	112057052	Missense_Mutation	SNP	C	C3N-01071_TP	3051979	112057052	86238507	68	23055											
MSL2	0	.	GRCh38	chr3	136151421	136151421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaatctaagcaggctttgCggttagagtagcaagggcag	12	9	13	7	1	1	1	0	0	1	1	1	1	1	1	0	3	4	6	0	3	6	5	rs867479221		C3N-01071_TP	C3N-01071_NB	C	C																c.1460G>C	p.Arg487Pro	p.R487P	ENST00000309993	2/2	711	648	63	470	470	0	strelka-varscan	MSL2,missense_variant,p.Arg487Pro,ENST00000309993,NM_018133.3;MSL2,missense_variant,p.Arg413Pro,ENST00000434835,NM_001145417.1;PPP2R3A,downstream_gene_variant,,ENST00000264977,NM_002718.4;MSL2,downstream_gene_variant,,ENST00000481989,;MSL2,downstream_gene_variant,,ENST00000491050,;MSL2,downstream_gene_variant,,ENST00000473093,;TDGF1P6,upstream_gene_variant,,ENST00000463873,;	G	ENST00000309993	Transcript	missense_variant	2193/4692	1460/1734	487/577	R/P	cGc/cCc	rs867479221,COSM5566224	1		-1	MSL2	HGNC	HGNC:25544	protein_coding	YES	CCDS33861.1	ENSP00000311827	Q9HCI7		UPI000020A2D7	NM_018133.3	deleterious(0.01)		2/2		Pfam_domain:PF16682,hmmpanther:PTHR16048,hmmpanther:PTHR16048:SF3,SMART_domains:SM01114											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												G	3	3	71	136151421	136151421	C	G	1	0	0	0	0	1	0	0	0	9861	768	27	4		4	MSL2	3	136151421	Missense_Mutation	SNP	C	C3N-01071_TP	24094369	136151421	62144138	69	23056											
A4GNT	0	.	GRCh38	chr3	138131138	138131138	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagggcttccagccccTggtgggacttgaaagaaggc	9	7	15	10	0	1	2	1	1	0	1	2	4	2	4	3	5	1	1	3	5	2	2	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.119A>T	p.Gln40Leu	p.Q40L	ENST00000236709	2/3	186	167	19	146	146	0	strelka-varscan	A4GNT,missense_variant,p.Gln40Leu,ENST00000236709,NM_016161.2;	A	ENST00000236709	Transcript	missense_variant	321/1771	119/1023	40/340	Q/L	cAg/cTg		1		-1	A4GNT	HGNC	HGNC:17968	protein_coding	YES	CCDS3097.1	ENSP00000236709	Q9UNA3		UPI000003FF93	NM_016161.2	tolerated(0.68)		2/3		hmmpanther:PTHR12042:SF16,hmmpanther:PTHR12042,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	138131138	138131138	T	A	1	0	0	0	0	1	0	0	0	7	1580	55	4		4	A4GNT	3	138131138	Missense_Mutation	SNP	T	C3N-01071_TP	1979717	138131138	60164421	70	23057											
SPSB4	0	.	GRCh38	chr3	141066243	141066243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttggacatgccagcggcgGggctggctgtgcagctgcgg	4	8	19	10	3	0	0	0	0	0	0	0	1	0	1	1	6	5	5	1	6	0	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.139G>T	p.Gly47Trp	p.G47W	ENST00000310546	2/3	126	105	21	85	85	0	strelka-varscan	SPSB4,missense_variant,p.Gly47Trp,ENST00000310546,NM_080862.2;SPSB4,upstream_gene_variant,,ENST00000508126,;	T	ENST00000310546	Transcript	missense_variant	883/2908	139/822	47/273	G/W	Ggg/Tgg		1		1	SPSB4	HGNC	HGNC:30630	protein_coding	YES	CCDS3115.1	ENSP00000311609	Q96A44		UPI00000734A4	NM_080862.2	deleterious(0.01)		2/3		PROSITE_profiles:PS50188,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF3,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	141066243	141066243	G	T	1	0	0	0	0	1	0	0	0	15471	1232	43	2		2	SPSB4	3	141066243	Missense_Mutation	SNP	G	C3N-01071_TP	2935105	141066243	57229316	71	23058											
SI	0	.	GRCh38	chr3	165055226	165055226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatattgcacttcttgatGgaaaatactgcattcatttg	12	16	6	7	0	3	1	2	1	1	0	3	2	3	2	0	1	3	2	0	1	4	7			C3N-01071_TP	C3N-01071_NB	G	G																c.1480C>A	p.His494Asn	p.H494N	ENST00000264382	13/48	294	220	74	250	250	0	strelka-varscan	SI,missense_variant,p.His494Asn,ENST00000264382,NM_001041.3;	T	ENST00000264382	Transcript	missense_variant	1543/6011	1480/5484	494/1827	H/N	Cat/Aat	COSM729348	1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	deleterious(0.04)		13/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66,Pfam_domain:PF01055,Superfamily_domains:SSF51445											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	71	165055226	165055226	G	T	1	0	0	0	0	1	0	0	0	14561	1348	47	2		2	SI	3	165055226	Missense_Mutation	SNP	G	C3N-01071_TP	23988983	165055226	33240333	72	23059											
BCHE	0	.	GRCh38	chr3	165829857	165829857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggatggattcctttcCaaactcactcactcctggaa	14	10	6	11	0	2	0	2	0	0	0	5	3	5	3	3	3	1	0	3	3	4	2	rs115129687		C3N-01071_TP	C3N-01071_NB	C	C																c.1177G>A	p.Gly393Arg	p.G393R	ENST00000264381	2/4	132	102	30	91	91	0	strelka-varscan	BCHE,missense_variant,p.Gly393Arg,ENST00000264381,NM_000055.2;BCHE,intron_variant,,ENST00000488954,;BCHE,intron_variant,,ENST00000479451,;BCHE,missense_variant,p.Gly393Arg,ENST00000482958,;BCHE,missense_variant,p.Gly393Arg,ENST00000497011,;	T	ENST00000264381	Transcript	missense_variant	1344/2454	1177/1809	393/602	G/R	Gga/Aga	rs115129687,CM921036,CM990286,COSM309446,COSM5527306	1		-1	BCHE	HGNC	HGNC:983	protein_coding	YES	CCDS3198.1	ENSP00000264381	P06276		UPI0000127866	NM_000055.2	deleterious(0.05)		2/4		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF215,Superfamily_domains:SSF53474											0,0,0,1,1						MODERATE	1	SNV	1		1,1,1,1,1	1										PASS		.	.												T	3	4	71	165829857	165829857	C	T	1	0	0	0	0	1	0	0	0	1505	603	21	3		3	BCHE	3	165829857	Missense_Mutation	SNP	C	C3N-01071_TP	774631	165829857	32465702	73	23060											
ZBBX	0	.	GRCh38	chr3	167368506	167368506	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggatcggaattcttgcAgtttcttctccatctcttgg	5	18	9	9	1	4	0	0	0	4	0	7	2	4	2	1	3	1	2	1	3	1	6	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.137T>A	p.Leu46Gln	p.L46Q	ENST00000455345	4/21	344	292	52	304	304	0	strelka-varscan	ZBBX,missense_variant,p.Leu46Gln,ENST00000392766,NM_024687.3;ZBBX,missense_variant,p.Leu46Gln,ENST00000455345,NM_001199201.1;ZBBX,missense_variant,p.Leu46Gln,ENST00000307529,;ZBBX,missense_variant,p.Leu17Gln,ENST00000392767,;ZBBX,missense_variant,p.Leu17Gln,ENST00000392764,NM_001199202.1;ZBBX,missense_variant,p.Leu17Gln,ENST00000485651,;ZBBX,missense_variant,p.Leu46Gln,ENST00000474464,;ZBBX,intron_variant,,ENST00000469220,;ZBBX,non_coding_transcript_exon_variant,,ENST00000473888,;	T	ENST00000455345	Transcript	missense_variant	421/3185	137/2520	46/839	L/Q	cTg/cAg		1		-1	ZBBX	HGNC	HGNC:26245	protein_coding	YES	CCDS56296.1	ENSP00000390232	A8MT70		UPI000020A746	NM_001199201.1	deleterious(0.02)		4/21		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR28634																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	167368506	167368506	A	T	1	0	0	0	0	1	0	0	0	18078	188	7	4		4	ZBBX	3	167368506	Missense_Mutation	SNP	A	C3N-01071_TP	1538649	167368506	30927053	74	23061											
PLD1	0	.	GRCh38	chr3	171792577	171792577	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagagggcctgtttcccTgcccagccccagactggctg	7	7	13	14	0	0	2	0	0	0	2	1	3	1	3	5	3	2	2	5	3	1	1	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.232A>C	p.=	p.R78R	ENST00000331659	2/2	197	161	36	177	177	0	strelka-varscan	PLD1,synonymous_variant,p.=,ENST00000331659,;PLD1,intron_variant,,ENST00000356327,NM_001130081.2;PLD1,intron_variant,,ENST00000351298,NM_002662.4;PLD1,intron_variant,,ENST00000497307,;PLD1,intron_variant,,ENST00000460926,;PLD1,intron_variant,,ENST00000498278,;PLD1,intron_variant,,ENST00000440204,;	G	ENST00000331659	Transcript	synonymous_variant	2119/2906	232/459	78/152	R	Agg/Cgg		1		-1	PLD1	HGNC	HGNC:9067	protein_coding			ENSP00000328422		Q8WYW5	UPI000007269B				2/2																			LOW		SNV	1			1										PASS		.	.												G	2	3	71	171792577	171792577	T	G	1	0	0	0	0	0	0	0	1	12139	1579	55	5		5	PLD1	3	171792577	Silent	SNP	T	C3N-01071_TP	4424071	171792577	26502982	75	23062											
PCGF3	0	.	GRCh38	chr4	733691	733691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaaagatgttgaccaGgaagatcaagctgtgggaca	15	6	13	7	0	1	3	1	1	0	2	1	6	1	5	2	2	2	2	2	2	4	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.11G>A	p.Arg4Lys	p.R4K	ENST00000362003	4/11	104	88	16	130	130	0	strelka-varscan-mutect	PCGF3,missense_variant,p.Arg4Lys,ENST00000362003,NM_006315.4;PCGF3,missense_variant,p.Arg4Lys,ENST00000470161,;PCGF3,missense_variant,p.Arg4Lys,ENST00000400151,;PCGF3,missense_variant,p.Arg4Lys,ENST00000433814,;PCGF3,missense_variant,p.Arg4Lys,ENST00000419774,;PCGF3,missense_variant,p.Arg4Lys,ENST00000427463,;PCGF3,non_coding_transcript_exon_variant,,ENST00000482726,;PCGF3,missense_variant,p.Arg4Lys,ENST00000440452,;PCGF3,missense_variant,p.Arg4Lys,ENST00000430644,;PCGF3,non_coding_transcript_exon_variant,,ENST00000484141,;PCGF3,downstream_gene_variant,,ENST00000475288,;	A	ENST00000362003	Transcript	missense_variant	406/5685	11/729	4/242	R/K	aGg/aAg		1		1	PCGF3	HGNC	HGNC:10066	protein_coding	YES	CCDS3339.2	ENSP00000354724	Q3KNV8		UPI00001A9628	NM_006315.4	deleterious(0.03)		4/11		Gene3D:3.30.40.10,hmmpanther:PTHR10825,hmmpanther:PTHR10825:SF37																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	71	733691	733691	G	A	1	0	0	0	0	1	0	0	0	11664	1000	35	3		3	PCGF3	4	733691	Missense_Mutation	SNP	G	C3N-01071_TP		733691	189480864	76	23063											
PCGF3	0	.	GRCh38	chr4	764988	764988	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttatcccccagctggAcattttatgcaacgaggaga	10	10	8	13	1	0	1	0	0	0	1	2	4	2	2	4	2	3	2	4	2	3	3	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.605A>T	p.Asp202Val	p.D202V	ENST00000362003	10/11	162	153	9	179	179	0	strelka-varscan-mutect	PCGF3,missense_variant,p.Asp202Val,ENST00000362003,NM_006315.4;PCGF3,missense_variant,p.Asp202Val,ENST00000470161,;PCGF3,upstream_gene_variant,,ENST00000620529,;AC139887.4,non_coding_transcript_exon_variant,,ENST00000454037,;RP11-440L14.1,intron_variant,,ENST00000503571,;RP11-440L14.1,downstream_gene_variant,,ENST00000507446,;PCGF3,downstream_gene_variant,,ENST00000488032,;PCGF3,3_prime_UTR_variant,,ENST00000440452,;PCGF3,3_prime_UTR_variant,,ENST00000430644,;	T	ENST00000362003	Transcript	missense_variant	1000/5685	605/729	202/242	D/V	gAc/gTc		1		1	PCGF3	HGNC	HGNC:10066	protein_coding	YES	CCDS3339.2	ENSP00000354724	Q3KNV8		UPI00001A9628	NM_006315.4	deleterious(0.04)		10/11		Pfam_domain:PF16207,hmmpanther:PTHR10825,hmmpanther:PTHR10825:SF37																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	71	764988	764988	A	T	1	0	0	0	0	1	0	0	0	11664	289	10	4		4	PCGF3	4	764988	Missense_Mutation	SNP	A	C3N-01071_TP	31297	764988	189449567	77	23064											
FGFRL1	0	.	GRCh38	chr4	1022377	1022377	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtgctgccgcaggggctgaAggtgaagcaggtggagcggg	7	5	21	8	3	0	2	0	2	0	0	0	3	0	3	1	6	4	4	1	6	2	0	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.254A>T	p.Lys85Met	p.K85M	ENST00000398484	4/8	196	172	24	176	176	0	strelka-varscan-mutect	FGFRL1,missense_variant,p.Lys85Met,ENST00000398484,;FGFRL1,missense_variant,p.Lys85Met,ENST00000264748,NM_001004358.1,NM_021923.3;FGFRL1,missense_variant,p.Lys85Met,ENST00000510644,NM_001004356.2;FGFRL1,missense_variant,p.Lys85Met,ENST00000504138,;FGFRL1,missense_variant,p.Lys85Met,ENST00000507339,;FGFRL1,downstream_gene_variant,,ENST00000512174,;	T	ENST00000398484	Transcript	missense_variant	834/3639	254/1515	85/504	K/M	aAg/aTg		1		1	FGFRL1	HGNC	HGNC:3693	protein_coding	YES	CCDS3344.1	ENSP00000381498	Q8N441		UPI000003ED0B		deleterious(0)		4/8		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19890,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	71	1022377	1022377	A	T	1	0	0	0	0	1	0	0	0	5733	72	3	4		4	FGFRL1	4	1022377	Missense_Mutation	SNP	A	C3N-01071_TP	257389	1022377	189192178	78	23065											
MAEA	0	.	GRCh38	chr4	1339164	1339164	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccgagaaggtgtacatcAtgtaggccccacgtcgtgaa	12	7	12	10	3	1	2	1	1	0	1	2	3	1	2	3	2	2	2	3	2	5	2	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.1186A>C	p.Met396Leu	p.M396L	ENST00000303400	9/9	269	246	23	210	210	0	strelka-varscan-mutect	MAEA,missense_variant,p.Met396Leu,ENST00000303400,NM_001297430.1,NM_001017405.2;MAEA,missense_variant,p.Met355Leu,ENST00000264750,NM_005882.4;MAEA,missense_variant,p.Met328Leu,ENST00000514708,NM_001297431.1;MAEA,missense_variant,p.Met395Leu,ENST00000510794,NM_001297432.1;MAEA,missense_variant,p.Met348Leu,ENST00000505839,NM_001297433.1;MAEA,missense_variant,p.Met434Leu,ENST00000505177,;MAEA,downstream_gene_variant,,ENST00000503653,;MAEA,non_coding_transcript_exon_variant,,ENST00000512289,;MAEA,3_prime_UTR_variant,,ENST00000509531,;MAEA,non_coding_transcript_exon_variant,,ENST00000506530,;MAEA,non_coding_transcript_exon_variant,,ENST00000515766,;MAEA,non_coding_transcript_exon_variant,,ENST00000503162,;	C	ENST00000303400	Transcript	missense_variant	1249/2222	1186/1191	396/396	M/L	Atg/Ctg		1		1	MAEA	HGNC	HGNC:13731	protein_coding	YES	CCDS33936.1	ENSP00000302830	Q7L5Y9		UPI00000343F4	NM_001297430.1,NM_001017405.2	tolerated(0.06)		9/9		hmmpanther:PTHR12170,hmmpanther:PTHR12170:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	71	1339164	1339164	A	C	1	0	0	0	0	1	0	0	0	9069	217	8	5		5	MAEA	4	1339164	Missense_Mutation	SNP	A	C3N-01071_TP	316787	1339164	188875391	79	23066											
STX18	0	.	GRCh38	chr4	4471707	4471707	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttgccaatgtgagaaatCtaaaattaaaaaagaaagcc	20	9	7	5	0	1	2	0	1	1	2	1	3	1	2	2	0	2	1	2	0	8	3	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.169-1G>C		p.X57_splice	ENST00000306200		73	66	7	52	52	0	strelka-varscan-mutect	STX18,splice_acceptor_variant,,ENST00000306200,NM_016930.2;STX18,splice_acceptor_variant,,ENST00000505286,;STX18,splice_acceptor_variant,,ENST00000507908,;STX18-IT1,downstream_gene_variant,,ENST00000515487,;STX18,splice_acceptor_variant,,ENST00000512780,;	G	ENST00000306200	Transcript	splice_acceptor_variant	-/2138	169/1008	57/335				1		-1	STX18	HGNC	HGNC:15942	protein_coding	YES	CCDS3377.1	ENSP00000305810	Q9P2W9		UPI0000049FDD	NM_016930.2				1/10																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	71	4471707	4471707	C	G	1	0	0	0	0	0	0	1	0	15725	927	32	4		4	STX18	4	4471707	Splice_Site	SNP	C	C3N-01071_TP	3132543	4471707	185742848	80	23067											
AFAP1	0	.	GRCh38	chr4	7843339	7843339	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagagctgctcatcgcatCggaatcataatctgtaaaaa	16	10	7	8	2	3	1	2	0	1	1	5	2	3	2	0	1	2	4	0	1	6	3	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.346G>T	p.Asp116Tyr	p.D116Y	ENST00000420658	5/18	178	151	27	198	198	0	strelka-varscan-mutect	AFAP1,missense_variant,p.Asp116Tyr,ENST00000420658,NM_001134647.1;AFAP1,missense_variant,p.Asp116Tyr,ENST00000358461,NM_198595.2;AFAP1,missense_variant,p.Asp116Tyr,ENST00000360265,;AFAP1,missense_variant,p.Asp116Tyr,ENST00000382543,;AFAP1,non_coding_transcript_exon_variant,,ENST00000513856,;AFAP1,non_coding_transcript_exon_variant,,ENST00000612691,;	A	ENST00000420658	Transcript	missense_variant	619/7768	346/2445	116/814	D/Y	Gat/Tat		1		-1	AFAP1	HGNC	HGNC:24017	protein_coding	YES	CCDS47010.1	ENSP00000410689	Q8N556		UPI000048041E	NM_001134647.1	deleterious(0)		5/18		hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF8,Low_complexity_(Seg):seg,Superfamily_domains:SSF50729																	MODERATE	1	SNV	2			1										PASS		rs1025152013	.												A	3	1	71	7843339	7843339	C	A	1	0	0	0	0	1	0	0	0	430	884	31	1		1	AFAP1	4	7843339	Missense_Mutation	SNP	C	C3N-01071_TP	3371632	7843339	182371216	81	23068											
CLNK	0	.	GRCh38	chr4	10528096	10528096	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttctgcttcaaggaccTgtattgaattaaaaaaaata	15	15	5	6	0	2	1	1	1	1	0	2	2	2	2	1	1	1	2	1	1	8	7	rs373636256		C3N-01071_TP	C3N-01071_NB	T	T																c.631-2A>T		p.X211_splice	ENST00000226951		37	28	9	21	21	0	strelka-varscan-mutect	CLNK,splice_acceptor_variant,,ENST00000226951,NM_052964.2;CLNK,splice_acceptor_variant,,ENST00000442825,;CLNK,downstream_gene_variant,,ENST00000507719,;	A	ENST00000226951	Transcript	splice_acceptor_variant	-/5599	631/1287	211/428			rs373636256	1		-1	CLNK	HGNC	HGNC:17438	protein_coding	YES	CCDS47024.1	ENSP00000226951	Q7Z7G1		UPI000004A23A	NM_052964.2				12/18																		HIGH	1	SNV	1			1										PASS		rs373636256	.												A	5	1	71	10528096	10528096	T	A	1	0	0	0	0	0	0	1	0	3317	1594	55	4		4	CLNK	4	10528096	Splice_Site	SNP	T	C3N-01071_TP	2684757	10528096	179686459	82	23069											
BOD1L1	0	.	GRCh38	chr4	13570028	13570028	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattatcgcttcgctttttTcacaggggcttcctccaccc	5	14	8	14	2	1	0	1	0	0	0	5	1	3	1	3	3	0	3	3	3	1	6			C3N-01071_TP	C3N-01071_NB	T	T																c.9139A>G	p.Lys3047Glu	p.K3047E	ENST00000040738	26/26	76	71	5	103	103	0	strelka-varscan-mutect	BOD1L1,missense_variant,p.Lys3047Glu,ENST00000040738,NM_148894.2;BOD1L1,missense_variant,p.Lys203Glu,ENST00000507943,;BOD1L1,non_coding_transcript_exon_variant,,ENST00000505343,;	C	ENST00000040738	Transcript	missense_variant	9275/10565	9139/9156	3047/3051	K/E	Aaa/Gaa	COSM291960	1		-1	BOD1L1	HGNC	HGNC:31792	protein_coding	YES	CCDS3411.2	ENSP00000040738	Q8NFC6		UPI000066D9E3	NM_148894.2	deleterious(0)		26/26		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3											1						MODERATE	1	SNV	2		1	1										PASS		.	.												C	3	2	71	13570028	13570028	T	C	1	0	0	0	0	1	0	0	0	1639	1792	62	5		5	BOD1L1	4	13570028	Missense_Mutation	SNP	T	C3N-01071_TP	3041932	13570028	176644527	83	23070											
TECRL	0	.	GRCh38	chr4	64409209	64409209	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtttgactgctggagttGgtcttagagggcccgctgag	7	12	15	7	1	1	3	0	2	1	1	1	4	1	4	1	3	1	4	1	3	2	3			C3N-01071_TP	C3N-01071_NB	G	G																c.143C>G	p.Pro48Arg	p.P48R	ENST00000381210	1/12	302	256	46	394	394	0	strelka-varscan-mutect	TECRL,missense_variant,p.Pro48Arg,ENST00000381210,NM_001010874.4;TECRL,missense_variant,p.Pro48Arg,ENST00000507440,;TECRL,missense_variant,p.Pro48Arg,ENST00000509536,;TECRL,non_coding_transcript_exon_variant,,ENST00000511356,;	C	ENST00000381210	Transcript	missense_variant	254/3573	143/1092	48/363	P/R	cCa/cGa	COSM1642506	1		-1	TECRL	HGNC	HGNC:27365	protein_coding	YES	CCDS33990.1	ENSP00000370607	Q5HYJ1		UPI0000141A54	NM_001010874.4	tolerated(0.19)		1/12													1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	71	64409209	64409209	G	C	1	0	0	0	0	1	0	0	0	16157	1348	47	4		4	TECRL	4	64409209	Missense_Mutation	SNP	G	C3N-01071_TP	50839181	64409209	125805346	84	23071											
CNOT6L	0	.	GRCh38	chr4	77774580	77774580	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaacttctgagtttattGgatgacagatccaggtaaac	13	12	10	6	0	1	3	0	2	1	1	2	4	2	4	1	3	2	3	1	3	5	6	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.264C>G	p.=	p.S88S	ENST00000504123	3/12	137	117	20	131	131	0	strelka-varscan-mutect	CNOT6L,synonymous_variant,p.=,ENST00000504123,NM_144571.2,NM_001286790.1;CNOT6L,synonymous_variant,p.=,ENST00000515506,;CNOT6L,synonymous_variant,p.=,ENST00000512485,;CNOT6L,synonymous_variant,p.=,ENST00000515441,;CNOT6L,non_coding_transcript_exon_variant,,ENST00000506166,;CNOT6L,3_prime_UTR_variant,,ENST00000504804,;	C	ENST00000504123	Transcript	synonymous_variant	395/8843	264/1668	88/555	S	tcC/tcG		1		-1	CNOT6L	HGNC	HGNC:18042	protein_coding	YES	CCDS68731.1	ENSP00000424896	Q96LI5		UPI0000E445DF	NM_144571.2,NM_001286790.1			3/12		PROSITE_profiles:PS51450,hmmpanther:PTHR12121:SF35,hmmpanther:PTHR12121,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	2			1										PASS		rs1320945727	.												C	2	2	71	77774580	77774580	G	C	1	0	0	0	0	0	0	0	1	3403	1335	47	4		4	CNOT6L	4	77774580	Silent	SNP	G	C3N-01071_TP	13365371	77774580	112439975	85	23072											
ATOH1	0	.	GRCh38	chr4	93829863	93829863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcgcaaaagaatttgtctCcttctctccccgggagcatc	8	11	9	13	2	2	1	0	0	2	1	6	2	3	2	3	2	1	2	3	2	3	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.937C>A	p.Pro313Thr	p.P313T	ENST00000306011	1/1	148	135	13	200	199	1	strelka-varscan-mutect	ATOH1,missense_variant,p.Pro313Thr,ENST00000306011,NM_005172.1;	A	ENST00000306011	Transcript	missense_variant	1111/2212	937/1065	313/354	P/T	Cct/Act		1		1	ATOH1	HGNC	HGNC:797	protein_coding	YES	CCDS3638.1	ENSP00000302216	Q92858		UPI0000126231	NM_005172.1	deleterious(0)		1/1		hmmpanther:PTHR19290:SF82,hmmpanther:PTHR19290																	MODERATE	1	SNV				1										PASS		rs1472903204	.												A	3	1	71	93829863	93829863	C	A	1	0	0	0	0	1	0	0	0	1264	855	30	2		2	ATOH1	4	93829863	Missense_Mutation	SNP	C	C3N-01071_TP	16055283	93829863	96384692	86	23073											
UNC5C	0	.	GRCh38	chr4	95182970	95182970	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacagagtttgcaaaccAgctccactgtgttcaggcta	11	9	9	12	0	1	1	1	0	0	1	2	1	2	1	2	1	3	6	2	1	2	3	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.2378T>C	p.Leu793Pro	p.L793P	ENST00000453304	14/16	147	130	17	150	150	0	strelka-varscan-mutect	UNC5C,missense_variant,p.Leu793Pro,ENST00000453304,NM_003728.3;UNC5C,missense_variant,p.Leu752Pro,ENST00000610318,;UNC5C,downstream_gene_variant,,ENST00000513796,;	G	ENST00000453304	Transcript	missense_variant	2727/9875	2378/2796	793/931	L/P	cTg/cCg		1		-1	UNC5C	HGNC	HGNC:12569	protein_coding	YES	CCDS3643.1	ENSP00000406022	O95185		UPI000004E6A5	NM_003728.3	deleterious(0)		14/16		hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	95182970	95182970	A	G	1	0	0	0	0	1	0	0	0	17517	188	7	5		5	UNC5C	4	95182970	Missense_Mutation	SNP	A	C3N-01071_TP	1353107	95182970	95031585	87	23074											
ADH5	0	.	GRCh38	chr4	99076499	99076499	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttacagcccatgataacTgccaatccgactcctcccag	11	9	5	16	1	0	1	0	1	0	0	3	2	3	1	5	0	4	0	5	0	3	3	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.618A>T	p.=	p.A206A	ENST00000296412	6/9	177	123	54	179	179	0	strelka-varscan-mutect	ADH5,synonymous_variant,p.=,ENST00000296412,NM_000671.4;ADH5,synonymous_variant,p.=,ENST00000503130,;ADH5,3_prime_UTR_variant,,ENST00000626055,;ADH5,non_coding_transcript_exon_variant,,ENST00000512991,;ADH5,downstream_gene_variant,,ENST00000508146,;ADH5,downstream_gene_variant,,ENST00000512604,;ADH5,3_prime_UTR_variant,,ENST00000512659,;ADH5,3_prime_UTR_variant,,ENST00000502590,;ADH5,non_coding_transcript_exon_variant,,ENST00000508511,;ADH5,non_coding_transcript_exon_variant,,ENST00000512621,;ADH5,downstream_gene_variant,,ENST00000505652,;	A	ENST00000296412	Transcript	synonymous_variant	669/2615	618/1125	206/374	A	gcA/gcT		1		-1	ADH5	HGNC	HGNC:253	protein_coding	YES	CCDS47111.1	ENSP00000296412	P11766	Q6IRT1	UPI0000000DE6	NM_000671.4			6/9		Low_complexity_(Seg):seg,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF606,TIGRFAM_domain:TIGR02818,Gene3D:3.40.50.720,Pfam_domain:PF00107,Superfamily_domains:SSF51735																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	71	99076499	99076499	T	A	1	0	0	0	0	0	0	0	1	384	1567	55	4		4	ADH5	4	99076499	Silent	SNP	T	C3N-01071_TP	3893529	99076499	91138056	88	23075											
C4orf17	0	.	GRCh38	chr4	99529897	99529897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcttcagggatgacaagtaCcaagaatgatgtgaaagcaa	16	9	10	6	0	2	4	1	3	1	1	2	5	2	5	1	1	2	2	1	1	6	3	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.485C>A	p.Thr162Asn	p.T162N	ENST00000326581	5/9	185	154	31	198	198	0	strelka-varscan-mutect	C4orf17,missense_variant,p.Thr162Asn,ENST00000514652,;C4orf17,missense_variant,p.Thr162Asn,ENST00000326581,NM_032149.2;C4orf17,non_coding_transcript_exon_variant,,ENST00000503257,;C4orf17,missense_variant,p.Thr162Asn,ENST00000477187,;	A	ENST00000326581	Transcript	missense_variant	847/1636	485/1080	162/359	T/N	aCc/aAc		1		1	C4orf17	HGNC	HGNC:25274	protein_coding	YES	CCDS3649.1	ENSP00000322582	Q53FE4		UPI0000141987	NM_032149.2	tolerated(0.17)		5/9		Pfam_domain:PF15256,hmmpanther:PTHR33772,hmmpanther:PTHR33772:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	99529897	99529897	C	A	1	0	0	0	0	1	0	0	0	2078	507	18	2		2	C4orf17	4	99529897	Missense_Mutation	SNP	C	C3N-01071_TP	453398	99529897	90684658	89	23076											
TACR3	0	.	GRCh38	chr4	103591494	103591494	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtttttaccttttatTcagacagcagtagatgatgg	9	18	9	5	0	1	3	1	1	0	2	1	3	1	3	1	1	2	4	1	1	3	9	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.1078A>T	p.Asn360Tyr	p.N360Y	ENST00000304883	4/5	283	235	48	282	282	0	strelka-varscan-mutect	TACR3,missense_variant,p.Asn360Tyr,ENST00000304883,NM_001059.2;RP11-297P16.3,intron_variant,,ENST00000502936,;RP11-297P16.3,intron_variant,,ENST00000512401,;	A	ENST00000304883	Transcript	missense_variant	1219/5190	1078/1398	360/465	N/Y	Aat/Tat		1		-1	TACR3	HGNC	HGNC:11528	protein_coding	YES	CCDS3664.1	ENSP00000303325	P29371		UPI0000050413	NM_001059.2	deleterious(0)		4/5		Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR00244,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF46,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	103591494	103591494	T	A	1	0	0	0	0	1	0	0	0	15903	1783	62	4		4	TACR3	4	103591494	Missense_Mutation	SNP	T	C3N-01071_TP	4061597	103591494	86623061	90	23077											
MYOZ2	0	.	GRCh38	chr4	119158088	119158088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggtggttcgcagcaagccCccttgactcctcccaacacc	9	7	8	17	1	0	1	0	1	0	0	3	1	2	1	5	2	3	3	5	2	3	2	rs748809573		C3N-01071_TP	C3N-01071_NB	C	C																c.313C>A	p.Pro105Thr	p.P105T	ENST00000307128	4/6	426	378	48	420	419	1	strelka-varscan-mutect	MYOZ2,missense_variant,p.Pro105Thr,ENST00000307128,NM_016599.4;	A	ENST00000307128	Transcript	missense_variant	526/2597	313/795	105/264	P/T	Ccc/Acc	rs748809573	1		1	MYOZ2	HGNC	HGNC:1330	protein_coding	YES	CCDS3711.1	ENSP00000306997	Q9NPC6		UPI000004665D	NM_016599.4	deleterious(0.03)		4/6		Pfam_domain:PF05556,hmmpanther:PTHR15941,hmmpanther:PTHR15941:SF9,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs748809573	.												A	3	1	71	119158088	119158088	C	A	1	0	0	0	0	1	0	0	0	10097	623	22	2		2	MYOZ2	4	119158088	Missense_Mutation	SNP	C	C3N-01071_TP	15566594	119158088	71056467	91	23078											
ADAD1	0	.	GRCh38	chr4	122380241	122380241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaggttacgcaagtaacgGgtacgacttttttcatttgt	10	14	9	8	3	1	0	1	0	0	0	1	1	1	0	1	2	3	4	1	2	5	7	rs201000111		C3N-01071_TP	C3N-01071_NB	G	G																c.172G>C	p.Gly58Arg	p.G58R	ENST00000296513	3/13	86	70	16	92	92	0	strelka-varscan-mutect	ADAD1,missense_variant,p.Gly58Arg,ENST00000296513,NM_139243.3;ADAD1,missense_variant,p.Gly40Arg,ENST00000388725,NM_001159295.1;ADAD1,missense_variant,p.Gly58Arg,ENST00000388724,NM_001159285.1;ADAD1,missense_variant,p.Gly58Arg,ENST00000439307,;ADAD1,missense_variant,p.Gly58Arg,ENST00000446706,;ADAD1,upstream_gene_variant,,ENST00000492454,;ADAD1,downstream_gene_variant,,ENST00000464160,;	C	ENST00000296513	Transcript	missense_variant,splice_region_variant	357/1961	172/1731	58/576	G/R	Ggt/Cgt	rs201000111	1		1	ADAD1	HGNC	HGNC:30713	protein_coding	YES	CCDS34058.1	ENSP00000296513	Q96M93		UPI000006DF76	NM_139243.3	deleterious(0.03)		3/13																			MODERATE	1	SNV	2			1										PASS		rs201000111	.												C	3	2	71	122380241	122380241	G	C	1	0	0	0	0	1	0	0	0	275	1246	43	4		4	ADAD1	4	122380241	Missense_Mutation	SNP	G	C3N-01071_TP	3222153	122380241	67834314	92	23079											
JADE1	0	.	GRCh38	chr4	128871371	128871371	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataggtgtgccttcttcctgCtcctcctcctcactggaaaa	7	13	7	14	0	2	0	1	0	1	0	6	1	6	1	5	2	2	1	5	2	3	3			C3N-01071_TP	C3N-01071_NB	C	C																c.1638C>A	p.Cys546Ter	p.C546*	ENST00000226319	11/11	75	70	5	79	79	0	strelka-varscan-mutect	JADE1,stop_gained,p.Cys546Ter,ENST00000226319,NM_199320.3;JADE1,stop_gained,p.Cys546Ter,ENST00000611140,NM_001287443.1;JADE1,stop_gained,p.Cys546Ter,ENST00000610919,NM_001287442.1;JADE1,stop_gained,p.Cys534Ter,ENST00000452328,NM_001287437.1;JADE1,stop_gained,p.Cys546Ter,ENST00000512960,NM_001287439.1,NM_001287440.1;SCLT1,intron_variant,,ENST00000503565,;	A	ENST00000226319	Transcript	stop_gained	1919/5772	1638/2529	546/842	C/*	tgC/tgA	COSM5638262	1		1	JADE1	HGNC	HGNC:30027	protein_coding	YES	CCDS34062.1	ENSP00000226319	Q6IE81		UPI000020B45B	NM_199320.3			11/11		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF79,Low_complexity_(Seg):seg											1						HIGH	1	SNV	5		1	1										PASS		.	.												A	4	1	71	128871371	128871371	C	A	1	0	0	0	0	0	1	0	0	7844	805	28	2		2	JADE1	4	128871371	Nonsense_Mutation	SNP	C	C3N-01071_TP	6491130	128871371	61343184	93	23080											
PCDH10	0	.	GRCh38	chr4	133151091	133151091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtaagcggcgagttggaCtatgaagagagcccagtgta	12	7	16	6	2	0	2	0	1	0	1	0	6	0	3	1	3	2	3	1	3	4	4	rs768053081		C3N-01071_TP	C3N-01071_NB	C	C																c.951C>A	p.Asp317Glu	p.D317E	ENST00000264360	1/5	179	151	28	221	221	0	strelka-varscan-mutect	PCDH10,missense_variant,p.Asp317Glu,ENST00000264360,NM_032961.2;PCDH10,missense_variant,p.Asp317Glu,ENST00000618019,NM_020815.2;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;PCDH10,upstream_gene_variant,,ENST00000511112,;	A	ENST00000264360	Transcript	missense_variant	1777/8489	951/3123	317/1040	D/E	gaC/gaA	rs768053081	1		1	PCDH10	HGNC	HGNC:13404	protein_coding	YES	CCDS34063.1	ENSP00000264360	Q9P2E7	X5D999	UPI0000161C61	NM_032961.2	deleterious(0)		1/5		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF0,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs768053081	.												A	3	1	71	133151091	133151091	C	A	1	0	0	0	0	1	0	0	0	11594	564	20	2		2	PCDH10	4	133151091	Missense_Mutation	SNP	C	C3N-01071_TP	4279720	133151091	57063464	94	23081											
SLC7A11	0	.	GRCh38	chr4	138241797	138241797	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaagtcgcactcaccaaaTagtgacaggaccccacacac	17	4	6	14	1	1	1	1	1	0	0	2	2	1	2	3	1	0	1	3	1	4	1	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.273A>T	p.=	p.L91L	ENST00000280612	1/12	107	97	10	131	131	0	strelka-varscan-mutect	SLC7A11,synonymous_variant,p.=,ENST00000280612,NM_014331.3;	A	ENST00000280612	Transcript	synonymous_variant	553/9645	273/1506	91/501	L	ctA/ctT		1		-1	SLC7A11	HGNC	HGNC:11059	protein_coding	YES	CCDS3742.1	ENSP00000280612	Q9UPY5		UPI0000138FD5	NM_014331.3			1/12		Pfam_domain:PF13520,PIRSF_domain:PIRSF006060,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF323,TIGRFAM_domain:TIGR00911,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	71	138241797	138241797	T	A	1	0	0	0	0	0	0	0	1	14977	1420	49	4		4	SLC7A11	4	138241797	Silent	SNP	T	C3N-01071_TP	5090706	138241797	51972758	95	23082											
SMARCA5	0	.	GRCh38	chr4	143538849	143538849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcatgttaagcacgcgtGctggtggtcttggcatcaat	7	15	11	8	2	3	0	2	0	1	0	3	0	3	0	0	3	2	4	0	3	2	4	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.1681G>A	p.Ala561Thr	p.A561T	ENST00000283131	13/24	148	137	11	159	159	0	strelka-varscan-mutect	SMARCA5,missense_variant,p.Ala561Thr,ENST00000283131,NM_003601.3;SMARCA5,upstream_gene_variant,,ENST00000515531,;	A	ENST00000283131	Transcript	missense_variant	2143/7923	1681/3159	561/1052	A/T	Gct/Act		1		1	SMARCA5	HGNC	HGNC:11101	protein_coding	YES	CCDS3761.1	ENSP00000283131	O60264		UPI000006E693	NM_003601.3	deleterious(0)		13/24		PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF691,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	143538849	143538849	G	A	1	0	0	0	0	1	0	0	0	15064	1319	46	3		3	SMARCA5	4	143538849	Missense_Mutation	SNP	G	C3N-01071_TP	5297052	143538849	46675706	96	23083											
FREM3	0	.	GRCh38	chr4	143698556	143698556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatttctagtgtagttcctGgatacagctgtggactcagt	8	15	10	8	0	3	0	2	0	1	0	4	2	4	2	1	2	2	3	1	2	3	5	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.2120C>A	p.Pro707Gln	p.P707Q	ENST00000329798	1/8	404	344	60	456	456	0	strelka-varscan-mutect	FREM3,missense_variant,p.Pro707Gln,ENST00000329798,NM_001168235.1;RP13-578N3.3,upstream_gene_variant,,ENST00000499587,;	T	ENST00000329798	Transcript	missense_variant	2120/6729	2120/6420	707/2139	P/Q	cCa/cAa		1		-1	FREM3	HGNC	HGNC:25172	protein_coding	YES	CCDS54808.1	ENSP00000332886	P0C091		UPI0000D615C2	NM_001168235.1	deleterious(0.01)		1/8		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF31																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	71	143698556	143698556	G	T	1	0	0	0	0	1	0	0	0	5913	1348	47	2		2	FREM3	4	143698556	Missense_Mutation	SNP	G	C3N-01071_TP	159707	143698556	46515999	97	23084											
SH3D19	0	.	GRCh38	chr4	151143908	151143908	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaacaatattaattccttAcgtttggtctgcttctaaga	11	17	6	7	1	2	1	0	0	2	1	3	1	3	1	1	1	3	3	1	1	6	8	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.1452+2T>A		p.X484_splice	ENST00000304527		82	66	16	96	96	0	strelka-varscan-mutect	SH3D19,splice_donor_variant,,ENST00000409598,NM_001128923.1;SH3D19,splice_donor_variant,,ENST00000304527,NM_001009555.3;SH3D19,splice_donor_variant,,ENST00000604030,;SH3D19,splice_donor_variant,,ENST00000514152,NM_001243349.1;SH3D19,splice_donor_variant,,ENST00000409252,;SH3D19,splice_donor_variant,,ENST00000427414,NM_001128924.1;RP11-372K14.2,downstream_gene_variant,,ENST00000603472,;SH3D19,splice_donor_variant,,ENST00000478503,;SH3D19,splice_donor_variant,,ENST00000508492,;	T	ENST00000304527	Transcript	splice_donor_variant	-/5273	1452/2373	484/790				1		-1	SH3D19	HGNC	HGNC:30418	protein_coding	YES	CCDS34077.2	ENSP00000302913	Q5HYK7		UPI0000251D9A	NM_001009555.3				13/20																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	71	151143908	151143908	A	T	1	0	0	0	0	0	0	1	0	14507	405	14	4		4	SH3D19	4	151143908	Splice_Site	SNP	A	C3N-01071_TP	7445352	151143908	39070647	98	23085											
NAF1	0	.	GRCh38	chr4	163166686	163166686	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtcggtgccattgaatttCagagtttccagctgagcggc	9	11	12	9	2	1	3	1	2	0	1	3	3	2	3	2	2	3	2	2	2	2	3	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.42G>C	p.=	p.L14L	ENST00000274054	1/8	215	198	17	272	272	0	strelka-varscan-mutect	NAF1,synonymous_variant,p.=,ENST00000274054,NM_138386.2;NAF1,synonymous_variant,p.=,ENST00000422287,NM_001128931.1;NAF1,non_coding_transcript_exon_variant,,ENST00000509232,;NAF1,non_coding_transcript_exon_variant,,ENST00000502973,;	G	ENST00000274054	Transcript	synonymous_variant	236/1907	42/1485	14/494	L	ctG/ctC		1		-1	NAF1	HGNC	HGNC:25126	protein_coding	YES	CCDS3803.1	ENSP00000274054	Q96HR8		UPI000013D9EB	NM_138386.2			1/8																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	71	163166686	163166686	C	G	1	0	0	0	0	0	0	0	1	10147	813	29	4		4	NAF1	4	163166686	Silent	SNP	C	C3N-01071_TP	12022778	163166686	27047869	99	23086											
CPE	0	.	GRCh38	chr4	165467686	165467686	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttgacttttttttttttAgcctggtgaactcaaggact	7	20	7	7	0	2	2	1	2	1	0	2	3	2	3	1	2	2	0	1	2	3	7	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.505-2A>T		p.X169_splice	ENST00000402744		44	38	6	54	53	1	varscan-mutect	CPE,splice_acceptor_variant,,ENST00000402744,NM_001873.2;CPE,splice_acceptor_variant,,ENST00000431967,;CPE,splice_acceptor_variant,,ENST00000513982,;CPE,splice_acceptor_variant,,ENST00000511992,;	T	ENST00000402744	Transcript	splice_acceptor_variant	-/2421	505/1431	169/476				1		1	CPE	HGNC	HGNC:2303	protein_coding	YES	CCDS3810.1	ENSP00000386104	P16870		UPI000000163E	NM_001873.2				2/8																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	71	165467686	165467686	A	T	1	0	0	0	0	0	0	1	0	3593	434	15	4		4	CPE	4	165467686	Splice_Site	SNP	A	C3N-01071_TP	2301000	165467686	24746869	100	23087											
DDX60L	0	.	GRCh38	chr4	168430511	168430511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactggcaccactggaatcCtcctttggccgagtagtttg	7	11	10	13	1	0	0	0	0	0	0	2	2	2	1	5	3	0	3	5	3	2	3			C3N-01071_TP	C3N-01071_NB	C	C																c.1644G>T	p.Glu548Asp	p.E548D	ENST00000260184	13/38	99	87	12	114	114	0	strelka-mutect	DDX60L,missense_variant,p.Glu548Asp,ENST00000511577,;DDX60L,missense_variant,p.Glu548Asp,ENST00000260184,NM_001012967.2;DDX60L,missense_variant,p.Glu548Asp,ENST00000505890,NM_001291510.1;DDX60L,missense_variant,p.Glu276Asp,ENST00000505863,;	A	ENST00000260184	Transcript	missense_variant	1865/6754	1644/5121	548/1706	E/D	gaG/gaT	COSM3601925,COSM4898967	1		-1	DDX60L	HGNC	HGNC:26429	protein_coding	YES	CCDS47161.1	ENSP00000260184	Q5H9U9		UPI0003EAE873	NM_001012967.2	tolerated(0.19)		13/38													1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	71	168430511	168430511	C	A	1	0	0	0	0	1	0	0	0	4182	680	24	2		2	DDX60L	4	168430511	Missense_Mutation	SNP	C	C3N-01071_TP	2962825	168430511	21784044	101	23088											
WDR17	0	.	GRCh38	chr4	176173337	176173337	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacctactgagctatattcgTactgaaaaattactcttgca	13	13	6	9	1	1	2	0	2	1	0	2	3	1	2	1	0	5	3	1	0	7	7	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.3432T>C	p.=	p.R1144R	ENST00000280190	27/31	155	134	21	170	170	0	strelka-varscan-mutect	WDR17,synonymous_variant,p.=,ENST00000443118,;WDR17,synonymous_variant,p.=,ENST00000280190,NM_170710.4;WDR17,synonymous_variant,p.=,ENST00000508596,NM_181265.3;WDR17,synonymous_variant,p.=,ENST00000507824,;WDR17,non_coding_transcript_exon_variant,,ENST00000508773,;	C	ENST00000280190	Transcript	synonymous_variant	3588/4705	3432/3969	1144/1322	R	cgT/cgC		1		1	WDR17	HGNC	HGNC:16661	protein_coding	YES	CCDS3825.1	ENSP00000280190	Q8IZU2		UPI000019C575	NM_170710.4			27/31																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	71	176173337	176173337	T	C	1	0	0	0	0	0	0	0	1	17837	1625	57	5		5	WDR17	4	176173337	Silent	SNP	T	C3N-01071_TP	7742826	176173337	14041218	102	23089											
FBXL7	0	.	GRCh38	chr5	15936806	15936806	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcggccgggtcaccgacGtgggcatccgctacgtggcc	5	6	15	15	6	1	0	1	0	0	0	2	1	2	0	4	4	2	2	4	4	1	1			C3N-01071_TP	C3N-01071_NB	G	G																c.1096G>C	p.Val366Leu	p.V366L	ENST00000504595	4/4	276	206	70	199	199	0	strelka-varscan-mutect	FBXL7,missense_variant,p.Val366Leu,ENST00000504595,NM_012304.4;FBXL7,missense_variant,p.Val324Leu,ENST00000329673,;FBXL7,missense_variant,p.Val319Leu,ENST00000510662,NM_001278317.1;MIR887,downstream_gene_variant,,ENST00000401258,;	C	ENST00000504595	Transcript	missense_variant	1577/4562	1096/1476	366/491	V/L	Gtg/Ctg	COSM3613407,COSM5293715	1		1	FBXL7	HGNC	HGNC:13604	protein_coding	YES	CCDS54833.1	ENSP00000423630	Q9UJT9		UPI00000724E0	NM_012304.4	tolerated(0.13)		4/4		Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24006,SMART_domains:SM00367,Superfamily_domains:SSF52047											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1384577870	.												C	3	2	71	15936806	15936806	G	C	1	0	0	0	0	1	0	0	0	5587	1145	40	4		4	FBXL7	5	15936806	Missense_Mutation	SNP	G	C3N-01071_TP		15936806	165601453	103	23090											
CDH9	0	.	GRCh38	chr5	26885640	26885640	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatgaggacacagagtagaAtcgcaacgagagctcccgtg	13	6	13	9	3	0	4	0	1	0	3	2	6	1	5	1	1	2	4	1	1	4	2	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.1856T>A	p.Ile619Asn	p.I619N	ENST00000231021	11/12	211	155	56	210	210	0	strelka-varscan-mutect	CDH9,missense_variant,p.Ile619Asn,ENST00000231021,NM_016279.3;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;	T	ENST00000231021	Transcript	missense_variant	2029/3079	1856/2370	619/789	I/N	aTt/aAt		1		-1	CDH9	HGNC	HGNC:1768	protein_coding	YES	CCDS3893.1	ENSP00000231021	Q9ULB4		UPI000013C945	NM_016279.3	deleterious(0)		11/12		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24027:SF99,hmmpanther:PTHR24027																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	26885640	26885640	A	T	1	0	0	0	0	1	0	0	0	2820	101	4	4		4	CDH9	5	26885640	Missense_Mutation	SNP	A	C3N-01071_TP	10948834	26885640	154652619	104	23091											
DHX29	0	.	GRCh38	chr5	55295387	55295387	+	Nonsense_Mutation	SNP	T	T	A																															ttctcaaattaccttactctTagggtcctcttcatatgttt																								novel		C3N-01071_TP	C3N-01071_NB	T	T																c.643A>T	p.Lys215Ter	p.K215*	ENST00000251636	5/27	130	113	17	117	117	0	strelka-varscan	DHX29,stop_gained,p.Lys215Ter,ENST00000251636,NM_019030.2;DHX29,stop_gained,p.Lys215Ter,ENST00000621106,;DHX29,downstream_gene_variant,,ENST00000508346,;RP11-506H20.1,downstream_gene_variant,,ENST00000506435,;DHX29,non_coding_transcript_exon_variant,,ENST00000504778,;	A	ENST00000251636	Transcript	stop_gained	792/4502	643/4110	215/1369	K/*	Aag/Tag		1		-1	DHX29	HGNC	HGNC:15815	protein_coding	YES	CCDS34158.1	ENSP00000251636	Q7Z478		UPI00001AE72C	NM_019030.2			5/27		Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	71	55295387	55295387	T	A	1	0	0	0	0	0	1	0	0	4307	1763	61	4		4	DHX29	5	55295387	Nonsense_Mutation	SNP	T	C3N-01071_TP	28409747	55295387	126242872	105	23092	486	2									
DHX29	0	.	GRCh38	chr5	55295388	55295388	+	Silent	SNP	A	A	T																															tctcaaattaccttactcttAgggtcctcttcatatgtttt																								novel		C3N-01071_TP	C3N-01071_NB	A	A																c.642T>A	p.=	p.P214P	ENST00000251636	5/27	136	117	19	117	117	0	strelka-varscan	DHX29,synonymous_variant,p.=,ENST00000251636,NM_019030.2;DHX29,synonymous_variant,p.=,ENST00000621106,;DHX29,downstream_gene_variant,,ENST00000508346,;RP11-506H20.1,downstream_gene_variant,,ENST00000506435,;DHX29,non_coding_transcript_exon_variant,,ENST00000504778,;	T	ENST00000251636	Transcript	synonymous_variant	791/4502	642/4110	214/1369	P	ccT/ccA		1		-1	DHX29	HGNC	HGNC:15815	protein_coding	YES	CCDS34158.1	ENSP00000251636	Q7Z478		UPI00001AE72C	NM_019030.2			5/27		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	71	55295388	55295388	A	T	1	0	0	0	0	0	0	0	1	4307	407	15	4		4	DHX29	5	55295388	Silent	SNP	A	C3N-01071_TP	1	55295388	126242871	106	23093	486	2									
IQGAP2	0	.	GRCh38	chr5	76600930	76600930	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagaatcaactcagaagccCcgcaataggcttaaacaatc	16	6	7	12	1	2	2	2	0	0	2	3	2	2	2	2	1	3	3	2	1	8	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1190C>G	p.Pro397Arg	p.P397R	ENST00000274364	11/36	266	218	48	283	283	0	strelka-varscan	IQGAP2,missense_variant,p.Pro397Arg,ENST00000274364,NM_006633.3;IQGAP2,missense_variant,p.Pro347Arg,ENST00000379730,NM_001285460.1;IQGAP2,missense_variant,p.Pro347Arg,ENST00000505766,;IQGAP2,missense_variant,p.Pro370Arg,ENST00000514350,;IQGAP2,downstream_gene_variant,,ENST00000504815,;	G	ENST00000274364	Transcript	missense_variant	1487/5844	1190/4728	397/1575	P/R	cCc/cGc		1		1	IQGAP2	HGNC	HGNC:6111	protein_coding	YES	CCDS34188.1	ENSP00000274364	Q13576		UPI000020CB2C	NM_006633.3	deleterious(0)		11/36		hmmpanther:PTHR14149:SF12,hmmpanther:PTHR14149																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	76600930	76600930	C	G	1	0	0	0	0	1	0	0	0	7721	623	22	4		4	IQGAP2	5	76600930	Missense_Mutation	SNP	C	C3N-01071_TP	21305542	76600930	104937329	107	23094											
CMYA5	0	.	GRCh38	chr5	79733576	79733576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtatcttctacagctcaggGagacttcccatcagaaaaac	13	9	8	11	0	4	2	2	0	2	2	5	3	5	2	1	2	3	2	1	2	4	4	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.4811G>T	p.Gly1604Val	p.G1604V	ENST00000446378	2/13	179	155	24	155	154	1	strelka-varscan	CMYA5,missense_variant,p.Gly1604Val,ENST00000446378,NM_153610.4;CMYA5,upstream_gene_variant,,ENST00000506603,;	T	ENST00000446378	Transcript	missense_variant	4842/12847	4811/12210	1604/4069	G/V	gGa/gTa		1		1	CMYA5	HGNC	HGNC:14305	protein_coding	YES	CCDS47238.1	ENSP00000394770	Q8N3K9		UPI00004F9478	NM_153610.4	deleterious(0.01)		2/13		hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	71	79733576	79733576	G	T	1	0	0	0	0	1	0	0	0	3368	1174	41	2		2	CMYA5	5	79733576	Missense_Mutation	SNP	G	C3N-01071_TP	3132646	79733576	101804683	108	23095											
ATG10	0	.	GRCh38	chr5	82253324	82253325	+	Frame_Shift_Del	DEL	TA	TA	-																															tgtttcctaggaatgtcaacTatatcacatcatggctgagc																								novel		C3N-01071_TP	C3N-01071_NB	TA	TA																c.565_566delAT	p.Ile189HisfsTer27	p.I189Hfs*27	ENST00000282185	7/8	162	142	20	217	217	0	sindel-varindel-pindel	ATG10,frameshift_variant,p.Ile189HisfsTer27,ENST00000282185,NM_031482.4;ATG10,frameshift_variant,p.Ile189HisfsTer27,ENST00000458350,NM_001131028.1;ATG10,downstream_gene_variant,,ENST00000513634,;ATG10,intron_variant,,ENST00000514253,;ATG10,intron_variant,,ENST00000508814,;ATG10,3_prime_UTR_variant,,ENST00000504770,;	-	ENST00000282185	Transcript	frameshift_variant	856-857/3033	562-563/663	188/220	Y/X	TAt/t		1		1	ATG10	HGNC	HGNC:20315	protein_coding	YES	CCDS4057.1	ENSP00000282185	Q9H0Y0		UPI0000037BF4	NM_031482.4			7/8		hmmpanther:PTHR14957																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	71	82253324	82253324	TA	-	1	0	1	0	1	0	0	0	0	1238	1522	53	0		0	ATG10	5	82253324	Frame_Shift_Del	DEL	TA	C3N-01071_TP	2519748	82253324	99284935	109	23096											
FBN2	0	.	GRCh38	chr5	128364688	128364688	+	Silent	SNP	G	G	T																															aagttttcacaaatcccattGgcacatatatcaggatccaa																								novel		C3N-01071_TP	C3N-01071_NB	G	G																c.2340C>A	p.=	p.A780A	ENST00000508053	24/71	345	320	25	324	322	2	strelka-varscan-mutect	FBN2,synonymous_variant,p.=,ENST00000508053,;FBN2,synonymous_variant,p.=,ENST00000262464,NM_001999.3;FBN2,synonymous_variant,p.=,ENST00000619499,;FBN2,synonymous_variant,p.=,ENST00000508989,;FBN2,downstream_gene_variant,,ENST00000511489,;	T	ENST00000508053	Transcript	synonymous_variant	3315/11132	2340/8739	780/2912	A	gcC/gcA		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468				24/71		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	LOW	1	SNV	5			1										PASS		rs1060504935	.												T	2	4	71	128364688	128364688	G	T	1	0	0	0	0	0	0	0	1	5566	1335	47	2		2	FBN2	5	128364688	Silent	SNP	G	C3N-01071_TP	46111364	128364688	53173571	110	23097	487	2									
FBN2	0	.	GRCh38	chr5	128364689	128364689	+	Missense_Mutation	SNP	G	G	T																															agttttcacaaatcccattgGcacatatatcaggatccaaa																								novel		C3N-01071_TP	C3N-01071_NB	G	G																c.2339C>A	p.Ala780Asp	p.A780D	ENST00000508053	24/71	346	320	26	327	327	0	strelka-varscan-mutect	FBN2,missense_variant,p.Ala780Asp,ENST00000508053,;FBN2,missense_variant,p.Ala780Asp,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Ala779Asp,ENST00000619499,;FBN2,missense_variant,p.Ala747Asp,ENST00000508989,;FBN2,downstream_gene_variant,,ENST00000511489,;	T	ENST00000508053	Transcript	missense_variant	3314/11132	2339/8739	780/2912	A/D	gCc/gAc		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		tolerated(0.1)		24/71		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	71	128364689	128364689	G	T	1	0	0	0	0	1	0	0	0	5566	1203	42	2		2	FBN2	5	128364689	Missense_Mutation	SNP	G	C3N-01071_TP	1	128364689	53173570	111	23098	487	2									
PCDHB6	0	.	GRCh38	chr5	141151726	141151726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacctactcgctgctgcCgccccaggacccgcacctgc	5	6	10	20	3	1	0	1	0	0	0	2	1	1	1	6	2	4	3	6	2	1	1			C3N-01071_TP	C3N-01071_NB	C	C																c.1469C>A	p.Pro490Gln	p.P490Q	ENST00000231136	1/1	943	758	185	813	812	1	strelka-varscan-mutect	PCDHB6,missense_variant,p.Pro490Gln,ENST00000231136,NM_018939.3;PCDHB6,missense_variant,p.Pro354Gln,ENST00000622991,NM_001303145.1;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;PCDHB17P,upstream_gene_variant,,ENST00000623466,;PCDHB17P,upstream_gene_variant,,ENST00000539533,;	A	ENST00000231136	Transcript	missense_variant	1705/3266	1469/2385	490/794	P/Q	cCg/cAg	COSM5309697	1		1	PCDHB6	HGNC	HGNC:8691	protein_coding	YES	CCDS4248.1	ENSP00000231136	Q9Y5E3		UPI0003CC25E7	NM_018939.3	deleterious(0.01)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE	1	SNV			1	1										PASS		rs1274457917	.												A	3	1	71	141151726	141151726	C	A	1	0	0	0	0	1	0	0	0	11633	652	23	1		1	PCDHB6	5	141151726	Missense_Mutation	SNP	C	C3N-01071_TP	12787037	141151726	40386533	112	23099											
DCTN4	0	.	GRCh38	chr5	150711186	150711186	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctaagttccacatgcTgggtgagccagatgacttct	10	10	10	11	0	1	3	0	2	1	1	2	3	2	3	3	1	3	3	3	1	2	3	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.1367A>T	p.Gln456Leu	p.Q456L	ENST00000446090	14/14	301	217	84	222	222	0	strelka-varscan-mutect	DCTN4,missense_variant,p.Gln449Leu,ENST00000447998,NM_016221.3;DCTN4,missense_variant,p.Gln392Leu,ENST00000424236,NM_001135644.1;DCTN4,missense_variant,p.Gln456Leu,ENST00000446090,NM_001135643.1;DCTN4,3_prime_UTR_variant,,ENST00000627368,;	A	ENST00000446090	Transcript	missense_variant	1409/1737	1367/1404	456/467	Q/L	cAg/cTg		1		-1	DCTN4	HGNC	HGNC:15518	protein_coding	YES	CCDS47310.1	ENSP00000414906	Q9UJW0		UPI0000EE3766	NM_001135643.1	deleterious(0.01)		14/14		hmmpanther:PTHR13034																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	150711186	150711186	T	A	1	0	0	0	0	1	0	0	0	4112	1580	55	4		4	DCTN4	5	150711186	Missense_Mutation	SNP	T	C3N-01071_TP	9559460	150711186	30827073	113	23100											
SLC36A1	0	.	GRCh38	chr5	151479424	151479424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	catccccttctttgtgtcccGagcgcccgagcactgtgagt	5	11	10	15	3	1	1	0	1	1	0	3	3	3	1	4	0	2	1	4	0	0	2	rs555693703		C3N-01071_TP	C3N-01071_NB	G	G																c.1094G>C	p.Arg365Pro	p.R365P	ENST00000243389	10/11	222	174	48	261	261	0	strelka-varscan-mutect	SLC36A1,missense_variant,p.Arg365Pro,ENST00000243389,NM_078483.2;SLC36A1,missense_variant,p.Arg365Pro,ENST00000520701,;SLC36A1,missense_variant,p.Arg365Pro,ENST00000521925,;SLC36A1,missense_variant,p.Arg365Pro,ENST00000616007,;SLC36A1,missense_variant,p.Arg124Pro,ENST00000517628,;RNA5SP197,upstream_gene_variant,,ENST00000363357,;SLC36A1,3_prime_UTR_variant,,ENST00000522185,;	C	ENST00000243389	Transcript	missense_variant	1317/5781	1094/1431	365/476	R/P	cGa/cCa	rs555693703,COSM1542658	1		1	SLC36A1	HGNC	HGNC:18761	protein_coding	YES	CCDS4316.1	ENSP00000243389	Q7Z2H8		UPI00001A9D3C	NM_078483.2	deleterious(0)		10/11		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF188											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs555693703	.												C	3	2	71	151479424	151479424	G	C	1	0	0	0	0	1	0	0	0	14871	1058	37	4		4	SLC36A1	5	151479424	Missense_Mutation	SNP	G	C3N-01071_TP	768238	151479424	30058835	114	23101											
GEMIN5	0	.	GRCh38	chr5	154921388	154921388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccaggctaaagtatataCagtcttcttatgatatgtgc	11	13	7	10	0	2	1	0	1	2	0	2	1	2	1	2	1	2	2	2	1	7	7	rs772849763		C3N-01071_TP	C3N-01071_NB	C	C																c.1417G>T	p.Val473Leu	p.V473L	ENST00000285873	10/28	90	72	18	165	165	0	strelka-varscan-mutect	GEMIN5,missense_variant,p.Val473Leu,ENST00000285873,NM_001252156.1,NM_015465.4;	A	ENST00000285873	Transcript	missense_variant	1493/5397	1417/4527	473/1508	V/L	Gta/Tta	rs772849763	1		-1	GEMIN5	HGNC	HGNC:20043	protein_coding	YES	CCDS4330.1	ENSP00000285873	Q8TEQ6		UPI000020D072	NM_001252156.1,NM_015465.4	deleterious(0.02)		10/28		Gene3D:2.130.10.10,Pfam_domain:PF12894,PROSITE_profiles:PS50294,SMART_domains:SM00320,Superfamily_domains:SSF50998																	MODERATE	1	SNV	1			1										PASS		rs772849763	.												A	3	1	71	154921388	154921388	C	A	1	0	0	0	0	1	0	0	0	6205	478	17	2		2	GEMIN5	5	154921388	Missense_Mutation	SNP	C	C3N-01071_TP	3441964	154921388	26616871	115	23102											
KIF4B	0	.	GRCh38	chr5	155017312	155017312	+	Silent	SNP	C	C	A																															gaggatcctaccgaggtgacCccaggattgagcttctttaa																								novel		C3N-01071_TP	C3N-01071_NB	C	C																c.3453C>A	p.=	p.T1151T	ENST00000435029	1/1	526	497	29	474	474	0	varscan-mutect	KIF4B,synonymous_variant,p.=,ENST00000435029,NM_001099293.1;	A	ENST00000435029	Transcript	synonymous_variant	3558/4378	3453/3705	1151/1234	T	acC/acA		1		1	KIF4B	HGNC	HGNC:6322	protein_coding	YES	CCDS47324.1	ENSP00000387875	Q2VIQ3		UPI000013D5DB	NM_001099293.1			1/1		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF392																	LOW	1	SNV				1										PASS		rs1358062425	.												A	2	1	71	155017312	155017312	C	A	1	0	0	0	0	0	0	0	1	8169	610	22	2		2	KIF4B	5	155017312	Silent	SNP	C	C3N-01071_TP	95924	155017312	26520947	116	23103	488	2									
KIF4B	0	.	GRCh38	chr5	155017313	155017313	+	Missense_Mutation	SNP	C	C	A																															aggatcctaccgaggtgaccCcaggattgagcttctttaac																								novel		C3N-01071_TP	C3N-01071_NB	C	C																c.3454C>A	p.Pro1152Thr	p.P1152T	ENST00000435029	1/1	531	503	28	475	474	1	varscan-mutect	KIF4B,missense_variant,p.Pro1152Thr,ENST00000435029,NM_001099293.1;	A	ENST00000435029	Transcript	missense_variant	3559/4378	3454/3705	1152/1234	P/T	Cca/Aca		1		1	KIF4B	HGNC	HGNC:6322	protein_coding	YES	CCDS47324.1	ENSP00000387875	Q2VIQ3		UPI000013D5DB	NM_001099293.1	deleterious_low_confidence(0.05)		1/1		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF392																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	71	155017313	155017313	C	A	1	0	0	0	0	1	0	0	0	8169	623	22	2		2	KIF4B	5	155017313	Missense_Mutation	SNP	C	C3N-01071_TP	1	155017313	26520946	117	23104	488	2									
HAVCR1	0	.	GRCh38	chr5	157052470	157052470	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgttgtcgttggaacgctCgttgtcgttgaaacagtcat	7	14	11	9	5	1	1	1	1	0	0	5	2	1	2	0	1	2	5	0	1	2	4	rs759408704		C3N-01071_TP	C3N-01071_NB	C	C																c.564G>T	p.=	p.T188T	ENST00000625904	3/7	598	497	101	502	502	0	strelka-varscan-mutect	HAVCR1,synonymous_variant,p.=,ENST00000339252,NM_001099414.1,NM_012206.2;HAVCR1,synonymous_variant,p.=,ENST00000625904,;HAVCR1,synonymous_variant,p.=,ENST00000522693,NM_001308156.1;HAVCR1,synonymous_variant,p.=,ENST00000523175,NM_001173393.1;HAVCR1,synonymous_variant,p.=,ENST00000518745,;HAVCR1,upstream_gene_variant,,ENST00000517644,;	A	ENST00000625904	Transcript	synonymous_variant	1097/1807	564/1206	188/401	T	acG/acT	rs759408704,COSM3919457,COSM3919458	1		-1	HAVCR1	HGNC	HGNC:17866	protein_coding	YES	CCDS78076.1	ENSP00000487363		E9PFX0	UPI000020C020				3/7		hmmpanther:PTHR15498,hmmpanther:PTHR15498:SF8,Low_complexity_(Seg):seg											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs759408704	.												A	2	1	71	157052470	157052470	C	A	1	0	0	0	0	0	0	0	1	6859	871	31	1		1	HAVCR1	5	157052470	Silent	SNP	C	C3N-01071_TP	2035157	157052470	24485789	118	23105											
FAM71B	0	.	GRCh38	chr5	157162533	157162533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctcctggccaccctGggctttctccactttggcct	3	12	8	18	0	1	0	0	0	1	0	4	0	3	0	6	3	1	2	6	3	0	2	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.1732C>A	p.Gln578Lys	p.Q578K	ENST00000302938	2/2	290	233	57	293	293	0	strelka-varscan-mutect	FAM71B,missense_variant,p.Gln578Lys,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;MED7,upstream_gene_variant,,ENST00000524289,;	T	ENST00000302938	Transcript	missense_variant	1828/2515	1732/1818	578/605	Q/K	Cag/Aag		1		-1	FAM71B	HGNC	HGNC:28397	protein_coding	YES	CCDS4335.1	ENSP00000305596	Q8TC56	A0A140VJJ4	UPI000006F9DC	NM_130899.2	tolerated(0.34)		2/2		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	157162533	157162533	G	T	1	0	0	0	0	1	0	0	0	5472	1357	47	2		2	FAM71B	5	157162533	Missense_Mutation	SNP	G	C3N-01071_TP	110063	157162533	24375726	119	23106											
ADAM19	0	.	GRCh38	chr5	157519970	157519970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtaaataaggtgttggcCcttgctgtcagggaggggct	7	12	15	7	0	2	0	1	0	1	0	2	1	2	1	1	5	1	4	1	5	3	4	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.469G>T	p.Gly157Cys	p.G157C	ENST00000257527	6/23	170	148	22	176	176	0	strelka-varscan-mutect	ADAM19,missense_variant,p.Gly157Cys,ENST00000257527,NM_033274.4;ADAM19,missense_variant,p.Gly157Cys,ENST00000517905,;ADAM19,missense_variant,p.Gly157Cys,ENST00000517951,;	A	ENST00000257527	Transcript	missense_variant	548/6481	469/2757	157/918	G/C	Ggc/Tgc		1		-1	ADAM19	HGNC	HGNC:197	protein_coding	YES	CCDS4338.1	ENSP00000257527	Q9H013		UPI000013CF6A	NM_033274.4	deleterious(0.02)		6/23		hmmpanther:PTHR11905:SF19,hmmpanther:PTHR11905,Pfam_domain:PF01562																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	157519970	157519970	C	A	1	0	0	0	0	1	0	0	0	284	623	22	2		2	ADAM19	5	157519970	Missense_Mutation	SNP	C	C3N-01071_TP	357437	157519970	24018289	120	23107											
FAM196B	0	.	GRCh38	chr5	169882838	169882838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgccgtctgctcctgaCacccaggggcagatttcgat	6	12	11	12	2	1	2	0	1	1	1	3	3	2	2	3	2	2	3	3	2	0	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1061G>T	p.Cys354Phe	p.C354F	ENST00000377365	2/4	93	87	6	122	122	0	strelka-varscan	FAM196B,missense_variant,p.Cys354Phe,ENST00000377365,NM_001129891.1;DOCK2,intron_variant,,ENST00000256935,NM_004946.2;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;	A	ENST00000377365	Transcript	missense_variant	2443/2999	1061/1608	354/535	C/F	tGt/tTt		1		-1	FAM196B	HGNC	HGNC:37271	protein_coding	YES	CCDS47336.1	ENSP00000366582	A6NMK8		UPI0000480500	NM_001129891.1	deleterious(0)		2/4		Pfam_domain:PF15265,hmmpanther:PTHR28682,hmmpanther:PTHR28682:SF2																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	71	169882838	169882838	C	A	1	0	0	0	0	1	0	0	0	5374	478	17	2		2	FAM196B	5	169882838	Missense_Mutation	SNP	C	C3N-01071_TP	12362868	169882838	11655421	121	23108											
UIMC1	0	.	GRCh38	chr5	176943458	176943458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaggtagaaatagctaCttccttctcagcatcttcct	11	13	7	10	0	2	2	1	1	2	2	5	3	4	2	2	1	3	3	2	1	5	6	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1474G>T	p.Val492Leu	p.V492L	ENST00000377227	10/15	126	114	12	155	155	0	strelka-varscan	UIMC1,missense_variant,p.Val492Leu,ENST00000377227,NM_016290.4;UIMC1,missense_variant,p.Val492Leu,ENST00000511320,NM_001199297.1,NM_001199298.1;UIMC1,missense_variant,p.Val326Leu,ENST00000506128,;UIMC1,missense_variant,p.Val122Leu,ENST00000510698,;UIMC1,non_coding_transcript_exon_variant,,ENST00000503273,;UIMC1,3_prime_UTR_variant,,ENST00000512031,;	A	ENST00000377227	Transcript	missense_variant	1607/2570	1474/2160	492/719	V/L	Gta/Tta		1		-1	UIMC1	HGNC	HGNC:30298	protein_coding	YES	CCDS4408.1	ENSP00000366434	Q96RL1	A0A024R7R0	UPI00001A9954	NM_016290.4	tolerated(0.15)		10/15		hmmpanther:PTHR15932,hmmpanther:PTHR15932:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	176943458	176943458	C	A	1	0	0	0	0	1	0	0	0	17495	565	20	2		2	UIMC1	5	176943458	Missense_Mutation	SNP	C	C3N-01071_TP	7060620	176943458	4594801	122	23109											
FOXF2	0	.	GRCh38	chr6	1390177	1390177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctgcctgcaagagcgcggGcggcggcggcgcgggcgccg	3	2	22	14	9	0	1	0	0	0	1	0	1	0	1	2	6	3	2	2	6	1	0	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.230G>A	p.Gly77Asp	p.G77D	ENST00000259806	1/2	135	106	29	143	143	0	strelka-varscan-mutect	FOXF2,missense_variant,p.Gly77Asp,ENST00000259806,NM_001452.1;MIR6720,downstream_gene_variant,,ENST00000611664,;	A	ENST00000259806	Transcript	missense_variant	344/2187	230/1335	77/444	G/D	gGc/gAc		1		1	FOXF2	HGNC	HGNC:3810	protein_coding	YES	CCDS4472.1	ENSP00000259806	Q12947		UPI000012ADD6	NM_001452.1	tolerated_low_confidence(0.13)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF224																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	1390177	1390177	G	A	1	0	0	0	0	1	0	0	0	5868	1203	42	3		3	FOXF2	6	1390177	Missense_Mutation	SNP	G	C3N-01071_TP		1390177	169415802	123	23110											
SLC35B3	0	.	GRCh38	chr6	8413701	8413701	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaccagaccatacataccTaagagaaagaaataaggaaa	23	4	6	8	0	0	3	0	0	0	3	0	5	0	4	3	1	3	0	3	1	8	4	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.1056-2A>T		p.X352_splice	ENST00000379660		83	76	7	93	93	0	strelka-varscan-mutect	SLC35B3,splice_acceptor_variant,,ENST00000379660,NM_015948.4,NM_001142541.2;	A	ENST00000379660	Transcript	splice_acceptor_variant	-/2137	1056/1206	352/401				1		-1	SLC35B3	HGNC	HGNC:21601	protein_coding	YES	CCDS4508.1	ENSP00000368981	Q9H1N7	A0A024R008	UPI0000071D1B	NM_015948.4,NM_001142541.2				10/10																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	71	8413701	8413701	T	A	1	0	0	0	0	0	0	1	0	14847	1536	53	4		4	SLC35B3	6	8413701	Splice_Site	SNP	T	C3N-01071_TP	7023524	8413701	162392278	124	23111											
TMEM14B	0	.	GRCh38	chr6	10755165	10755165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacatctgttacttttgttGgtgttatgggaatgagatcc	8	17	10	6	0	1	1	0	1	1	1	2	3	2	2	1	2	2	3	1	2	4	6	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.226G>T	p.Gly76Cys	p.G76C	ENST00000467317	5/6	176	159	17	158	158	0	varscan-mutect	TMEM14B,missense_variant,p.Gly76Cys,ENST00000467317,NM_001286488.1;TMEM14B,missense_variant,p.Gly42Cys,ENST00000481240,NM_001286489.1;TMEM14B,missense_variant,p.Gly76Cys,ENST00000475942,;TMEM14B,missense_variant,p.Gly76Cys,ENST00000379542,NM_030969.4;TMEM14B,missense_variant,p.Gly65Cys,ENST00000612333,NM_001286484.1;TMEM14B,missense_variant,p.Gly42Cys,ENST00000379530,NM_001127711.2;TMEM14B,missense_variant,p.Trp16Leu,ENST00000473276,;TMEM14B,missense_variant,p.Gly42Cys,ENST00000461342,;RNA5SP203,upstream_gene_variant,,ENST00000410451,;TMEM14B,non_coding_transcript_exon_variant,,ENST00000491103,;TMEM14B,non_coding_transcript_exon_variant,,ENST00000486421,;TMEM14B,non_coding_transcript_exon_variant,,ENST00000480194,;TMEM14B,missense_variant,p.Gly31Cys,ENST00000467229,;TMEM14B,intron_variant,,ENST00000463448,;RP11-637O19.3,intron_variant,,ENST00000480294,;TMEM14B,intron_variant,,ENST00000473166,;TMEM14B,intron_variant,,ENST00000460341,;TMEM14B,intron_variant,,ENST00000473807,;TMEM14B,intron_variant,,ENST00000463100,;TMEM14B,intron_variant,,ENST00000478732,;	T	ENST00000467317	Transcript	missense_variant	321/1224	226/456	76/151	G/C	Ggt/Tgt		1		1	TMEM14B	HGNC	HGNC:21384	protein_coding	YES	CCDS75396.1	ENSP00000420658		C9JCY4	UPI0001B79353	NM_001286488.1	deleterious(0)		5/6		hmmpanther:PTHR12668,hmmpanther:PTHR12668:SF4,Pfam_domain:PF03647,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		rs1353311216	.												T	3	4	71	10755165	10755165	G	T	1	0	0	0	0	1	0	0	0	16507	1357	47	2		2	TMEM14B	6	10755165	Missense_Mutation	SNP	G	C3N-01071_TP	2341464	10755165	160050814	125	23112											
NRSN1	0	.	GRCh38	chr6	24145944	24145944	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctctactggcaaccTgaaacctttcccaccccagt	9	9	5	18	0	1	1	0	1	1	0	3	1	3	1	7	1	4	1	7	1	3	2	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.586T>C	p.Ter196ArgextTer16	p.*196Rext*16	ENST00000378478	4/4	68	63	5	81	81	0	varscan-mutect	NRSN1,stop_lost,p.Ter196ArgextTer16,ENST00000378478,NM_080723.4;NRSN1,stop_lost,p.Ter196ArgextTer16,ENST00000378491,;NRSN1,downstream_gene_variant,,ENST00000378475,;NRSN1,downstream_gene_variant,,ENST00000378477,;NRSN1,intron_variant,,ENST00000468195,;	C	ENST00000378478	Transcript	stop_lost	823/2408	586/588	196/195	*/R	Tga/Cga		1		1	NRSN1	HGNC	HGNC:17881	protein_coding	YES	CCDS4549.1	ENSP00000367739	Q8IZ57		UPI000003E7D6	NM_080723.4			4/4																			HIGH	1	SNV	1			1										PASS		.	.												C	4	2	71	24145944	24145944	T	C	1	0	0	0	0	0	0	0	0	10721	1593	55	5		5	NRSN1	6	24145944	Nonstop_Mutation	SNP	T	C3N-01071_TP	13390779	24145944	146660035	126	23113											
DPCR1	0	.	GRCh38	chr6	30951441	30951441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccactggccaatgagAacaccacaacatccccaaca	15	3	6	17	0	0	1	0	1	0	1	1	3	1	2	6	2	3	0	6	2	4	0	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.2977A>G	p.Asn993Asp	p.N993D	ENST00000462446	2/3	338	269	69	317	317	0	strelka-varscan	DPCR1,missense_variant,p.Asn1060Asp,ENST00000636043,;DPCR1,missense_variant,p.Asn993Asp,ENST00000462446,NM_080870.3;DPCR1,intron_variant,,ENST00000304311,;SFTA2,intron_variant,,ENST00000634371,;HCG21,intron_variant,,ENST00000419481,;	G	ENST00000462446	Transcript	missense_variant	3005/5314	2977/4182	993/1393	N/D	Aac/Gac		1		1	DPCR1	HGNC	HGNC:21666	protein_coding	YES	CCDS4692.2	ENSP00000417182		E9PEI6	UPI0000596C17	NM_080870.3	deleterious(0.04)		2/3		hmmpanther:PTHR22094,hmmpanther:PTHR22094:SF0,Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	71	30951441	30951441	A	G	1	0	0	0	0	1	0	0	0	4526	246	9	5		5	DPCR1	6	30951441	Missense_Mutation	SNP	A	C3N-01071_TP	6805497	30951441	139854538	127	23114											
SLC44A4	0	.	GRCh38	chr6	31870862	31870862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtaggcactgaggttggtgGtgaaacccagctgggagatg	9	8	18	6	0	0	3	0	2	0	1	0	4	0	3	1	6	2	4	1	6	2	2	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.887C>A	p.Thr296Asn	p.T296N	ENST00000229729	10/21	582	469	113	462	462	0	strelka-varscan	SLC44A4,missense_variant,p.Thr220Asn,ENST00000544672,NM_001178045.1;SLC44A4,missense_variant,p.Thr296Asn,ENST00000229729,NM_025257.2;SLC44A4,missense_variant,p.Thr254Asn,ENST00000375562,NM_001178044.1;SLC44A4,intron_variant,,ENST00000414427,;SLC44A4,downstream_gene_variant,,ENST00000465707,;SLC44A4,downstream_gene_variant,,ENST00000462671,;SLC44A4,non_coding_transcript_exon_variant,,ENST00000479777,;SLC44A4,non_coding_transcript_exon_variant,,ENST00000475563,;	T	ENST00000229729	Transcript	missense_variant	908/2589	887/2133	296/710	T/N	aCc/aAc		1		-1	SLC44A4	HGNC	HGNC:13941	protein_coding	YES	CCDS4724.2	ENSP00000229729	Q53GD3	A0A140VJH4	UPI00004702CE	NM_025257.2	tolerated(0.07)		10/21		hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF37																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	31870862	31870862	G	T	1	0	0	0	0	1	0	0	0	14915	1261	44	2		2	SLC44A4	6	31870862	Missense_Mutation	SNP	G	C3N-01071_TP	919421	31870862	138935117	128	23115											
UBR2	0	.	GRCh38	chr6	42652603	42652603	+	Silent	SNP	G	G	T																															acaattctgcaatgggctgtGgaacataatggatatgcctg																								rs760506217		C3N-01071_TP	C3N-01071_NB	G	G																c.2727G>T	p.=	p.V909V	ENST00000372899	25/47	205	178	27	323	323	0	strelka-varscan	UBR2,synonymous_variant,p.=,ENST00000372899,NM_015255.2;UBR2,synonymous_variant,p.=,ENST00000372901,;	T	ENST00000372899	Transcript	synonymous_variant	2985/7857	2727/5268	909/1755	V	gtG/gtT	rs760506217	1		1	UBR2	HGNC	HGNC:21289	protein_coding	YES	CCDS4870.1	ENSP00000361990	Q8IWV8		UPI0000074466	NM_015255.2			25/47		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	71	42652603	42652603	G	T	1	0	0	0	0	0	0	0	1	17426	1335	47	2		2	UBR2	6	42652603	Silent	SNP	G	C3N-01071_TP	10781741	42652603	128153376	129	23116	489	2									
UBR2	0	.	GRCh38	chr6	42652604	42652604	+	Nonsense_Mutation	SNP	G	G	T																															caattctgcaatgggctgtgGaacataatggatatgcctgg																								rs765953412		C3N-01071_TP	C3N-01071_NB	G	G																c.2728G>T	p.Glu910Ter	p.E910*	ENST00000372899	25/47	209	180	29	320	320	0	strelka-varscan	UBR2,stop_gained,p.Glu910Ter,ENST00000372899,NM_015255.2;UBR2,stop_gained,p.Glu910Ter,ENST00000372901,;	T	ENST00000372899	Transcript	stop_gained	2986/7857	2728/5268	910/1755	E/*	Gaa/Taa	rs765953412	1		1	UBR2	HGNC	HGNC:21289	protein_coding	YES	CCDS4870.1	ENSP00000361990	Q8IWV8		UPI0000074466	NM_015255.2			25/47		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	71	42652604	42652604	G	T	1	0	0	0	0	0	1	0	0	17426	1175	41	2		2	UBR2	6	42652604	Nonsense_Mutation	SNP	G	C3N-01071_TP	1	42652604	128153375	130	23117	489	2									
GLYATL3	0	.	GRCh38	chr6	49521671	49521671	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgagttatatgatgttTccaaagcggttgccaattca	12	13	10	6	1	1	3	1	2	0	1	2	3	2	3	2	1	2	3	2	1	4	5	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.340T>A	p.Ser114Thr	p.S114T	ENST00000371197	5/6	98	85	13	84	84	0	strelka-varscan	GLYATL3,missense_variant,p.Ser114Thr,ENST00000371197,NM_001010904.1;GLYATL3,missense_variant,p.Ser114Thr,ENST00000545705,;	A	ENST00000371197	Transcript	missense_variant	453/1113	340/867	114/288	S/T	Tcc/Acc		1		1	GLYATL3	HGNC	HGNC:21349	protein_coding	YES	CCDS47440.1	ENSP00000360240	Q5SZD4		UPI000023780B	NM_001010904.1	tolerated(0.14)		5/6		Pfam_domain:PF06021,hmmpanther:PTHR15298,hmmpanther:PTHR15298:SF6,Superfamily_domains:SSF55729																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	71	49521671	49521671	T	A	1	0	0	0	0	1	0	0	0	6360	1783	62	4		4	GLYATL3	6	49521671	Missense_Mutation	SNP	T	C3N-01071_TP	6869067	49521671	121284308	131	23118											
GFRAL	0	.	GRCh38	chr6	55351482	55351482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatataccttgtcagcaGtccaaagaagctcttcacag	12	11	7	11	0	4	2	2	1	2	1	5	2	5	2	2	0	3	2	2	0	4	4			C3N-01071_TP	C3N-01071_NB	G	G																c.600G>T	p.Gln200His	p.Q200H	ENST00000340465	5/9	240	227	13	234	234	0	strelka-varscan	GFRAL,missense_variant,p.Gln200His,ENST00000340465,NM_207410.2;	T	ENST00000340465	Transcript	missense_variant	686/1911	600/1185	200/394	Q/H	caG/caT	COSM742465	1		1	GFRAL	HGNC	HGNC:32789	protein_coding	YES	CCDS4957.1	ENSP00000343636	Q6UXV0		UPI000023780D	NM_207410.2	deleterious(0)		5/9		hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF1,Pfam_domain:PF02351,SMART_domains:SM00907,Superfamily_domains:0042655											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	71	55351482	55351482	G	T	1	0	0	0	0	1	0	0	0	6225	1020	36	2		2	GFRAL	6	55351482	Missense_Mutation	SNP	G	C3N-01071_TP	5829811	55351482	115454497	132	23119											
PHF3	0	.	GRCh38	chr6	63706090	63706090	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaaaagttgttgtaggagtAgctcgcaaacattcagacaa	15	10	10	6	1	1	1	1	0	0	1	2	2	1	2	0	1	2	7	0	1	6	6	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.3429A>T	p.=	p.V1143V	ENST00000262043	12/16	166	142	24	130	130	0	strelka-varscan	PHF3,synonymous_variant,p.=,ENST00000262043,NM_001290259.1;PHF3,synonymous_variant,p.=,ENST00000393387,NM_015153.3;PHF3,synonymous_variant,p.=,ENST00000506783,;PHF3,synonymous_variant,p.=,ENST00000515594,;PHF3,upstream_gene_variant,,ENST00000505138,;PHF3,non_coding_transcript_exon_variant,,ENST00000503248,;PHF3,3_prime_UTR_variant,,ENST00000509876,;	T	ENST00000262043	Transcript	synonymous_variant	3769/8233	3429/6120	1143/2039	V	gtA/gtT		1		1	PHF3	HGNC	HGNC:8921	protein_coding	YES	CCDS4966.1	ENSP00000262043	Q92576		UPI000007154D	NM_001290259.1			12/16		Low_complexity_(Seg):seg,hmmpanther:PTHR11477,hmmpanther:PTHR11477:SF10																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	71	63706090	63706090	A	T	1	0	0	0	0	0	0	0	1	11923	407	15	4		4	PHF3	6	63706090	Silent	SNP	A	C3N-01071_TP	8354608	63706090	107099889	133	23120											
ASCC3	0	.	GRCh38	chr6	100516258	100516258	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctccacaggcatggatCagttcaggaagggactcgat	10	9	11	11	1	2	0	2	0	0	0	5	4	4	3	2	4	0	2	2	4	1	2			C3N-01071_TP	C3N-01071_NB	C	C																c.5997G>T	p.=	p.L1999L	ENST00000369162	39/42	406	375	31	432	431	1	strelka-varscan	ASCC3,synonymous_variant,p.=,ENST00000369162,NM_006828.3;	A	ENST00000369162	Transcript	synonymous_variant	6342/8146	5997/6609	1999/2202	L	ctG/ctT	COSM3947837	1		-1	ASCC3	HGNC	HGNC:18697	protein_coding	YES	CCDS5046.1	ENSP00000358159	Q8N3C0		UPI000014145A	NM_006828.3			39/42		hmmpanther:PTHR24075,hmmpanther:PTHR24075:SF0,Pfam_domain:PF02889,PIRSF_domain:PIRSF039073,SMART_domains:SM00973,Superfamily_domains:SSF158702											1						LOW	1	SNV	5		1	1										PASS		.	.												A	2	1	71	100516258	100516258	C	A	1	0	0	0	0	0	0	0	1	1175	813	29	2		2	ASCC3	6	100516258	Silent	SNP	C	C3N-01071_TP	36810168	100516258	70289721	134	23121											
CDC40	0	.	GRCh38	chr6	110209082	110209082	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattttttttttgttaacgtAggtttaactgtatttgaaac	11	21	6	3	1	0	1	0	1	0	0	0	1	0	1	0	1	3	4	0	1	6	11	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.491-2A>T		p.X164_splice	ENST00000368932		125	116	9	108	107	1	strelka-varscan-mutect	CDC40,splice_acceptor_variant,,ENST00000368932,;CDC40,splice_acceptor_variant,,ENST00000307731,NM_015891.2;CDC40,splice_acceptor_variant,,ENST00000368930,;CDC40,splice_acceptor_variant,,ENST00000453107,;CDC40,splice_acceptor_variant,,ENST00000606893,;CDC40,splice_acceptor_variant,,ENST00000431461,;	T	ENST00000368932	Transcript	splice_acceptor_variant	-/3933	491/1740	164/579				1		1	CDC40	HGNC	HGNC:17350	protein_coding	YES	CCDS5081.1	ENSP00000357928	O60508		UPI0000132145					5/15																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	71	110209082	110209082	A	T	1	0	0	0	0	0	0	1	0	2773	434	15	4		4	CDC40	6	110209082	Splice_Site	SNP	A	C3N-01071_TP	9692824	110209082	60596897	135	23122											
LAMA4	0	.	GRCh38	chr6	112144924	112144924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagggacaacctcggtcAgatttcttactgcagttaat	10	12	10	9	1	2	2	1	1	1	1	3	3	2	3	1	2	3	3	1	2	3	3	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.2363T>C	p.Leu788Pro	p.L788P	ENST00000230538	19/39	471	409	62	398	398	0	strelka-varscan-mutect	LAMA4,missense_variant,p.Leu788Pro,ENST00000230538,NM_001105206.2;LAMA4,missense_variant,p.Leu781Pro,ENST00000522006,NM_001105207.2,NM_002290.4;LAMA4,missense_variant,p.Leu781Pro,ENST00000389463,;LAMA4,missense_variant,p.Leu781Pro,ENST00000424408,;LAMA4,3_prime_UTR_variant,,ENST00000523765,;	G	ENST00000230538	Transcript	missense_variant	2761/6547	2363/5472	788/1823	L/P	cTg/cCg		1		-1	LAMA4	HGNC	HGNC:6484	protein_coding	YES	CCDS43491.1	ENSP00000230538		A0A0A0MQS9	UPI000153D541	NM_001105206.2	deleterious(0)		19/39		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF277,Pfam_domain:PF06009																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	112144924	112144924	A	G	1	0	0	0	0	1	0	0	0	8512	188	7	5		5	LAMA4	6	112144924	Missense_Mutation	SNP	A	C3N-01071_TP	1935842	112144924	58661055	136	23123											
RFX6	0	.	GRCh38	chr6	116894019	116894019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggattggcatcaaagagaGcagtgcatattaccactccg	12	9	11	9	1	1	1	1	0	0	1	2	3	2	2	2	2	3	3	2	2	3	3	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.599G>A	p.Ser200Asn	p.S200N	ENST00000332958	5/19	323	276	47	369	369	0	strelka-varscan-mutect	RFX6,missense_variant,p.Ser200Asn,ENST00000332958,NM_173560.3;RFX6,non_coding_transcript_exon_variant,,ENST00000471966,;RFX6,non_coding_transcript_exon_variant,,ENST00000487683,;	A	ENST00000332958	Transcript	missense_variant	615/3460	599/2787	200/928	S/N	aGc/aAc		1		1	RFX6	HGNC	HGNC:21478	protein_coding	YES	CCDS5113.1	ENSP00000332208	Q8HWS3		UPI00001609BE	NM_173560.3	tolerated(0.05)		5/19		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	116894019	116894019	G	A	1	0	0	0	0	1	0	0	0	13441	971	34	3		3	RFX6	6	116894019	Missense_Mutation	SNP	G	C3N-01071_TP	4749095	116894019	53911960	137	23124											
ROS1	0	.	GRCh38	chr6	117394226	117394226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggagatagaagaaattaatCctgaacctctgtaaaaaatt	18	11	7	5	0	1	4	0	1	1	3	2	5	2	4	2	1	1	1	2	1	8	4	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1100G>T	p.Gly367Val	p.G367V	ENST00000368508	10/43	112	104	8	153	153	0	strelka-mutect	ROS1,missense_variant,p.Gly367Val,ENST00000368508,NM_002944.2;ROS1,missense_variant,p.Gly376Val,ENST00000368507,;RP1-179P9.3,intron_variant,,ENST00000467125,;	A	ENST00000368508	Transcript	missense_variant	1299/7435	1100/7044	367/2347	G/V	gGa/gTa		1		-1	ROS1	HGNC	HGNC:10261	protein_coding	YES	CCDS5116.1	ENSP00000357494	P08922		UPI000013D467	NM_002944.2	tolerated(0.11)		10/43		Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	117394226	117394226	C	A	1	0	0	0	0	1	0	0	0	13708	855	30	2		2	ROS1	6	117394226	Missense_Mutation	SNP	C	C3N-01071_TP	500207	117394226	53411753	138	23125											
TRDN	0	.	GRCh38	chr6	123218625	123218625	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttgttgcttctgtccTggagaatttgcttgaccaga	6	16	10	9	0	1	3	0	1	1	2	3	4	3	3	3	1	2	3	3	1	1	5	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.2166A>C	p.=	p.P722P	ENST00000334268	41/41	120	102	18	142	142	0	strelka-varscan-mutect	TRDN,synonymous_variant,p.=,ENST00000334268,NM_006073.3;	G	ENST00000334268	Transcript	synonymous_variant	2484/4770	2166/2190	722/729	P	ccA/ccC		1		-1	TRDN	HGNC	HGNC:12261	protein_coding	YES	CCDS55053.1	ENSP00000333984	Q13061		UPI0000D820CC	NM_006073.3			41/41		hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	71	123218625	123218625	T	G	1	0	0	0	0	0	0	0	1	16957	1567	55	5		5	TRDN	6	123218625	Silent	SNP	T	C3N-01071_TP	5824399	123218625	47587354	139	23126											
VNN3	0	.	GRCh38	chr6	132734656	132734656	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcagagcaaggagggcaaAaactgccacacattttggaa	16	6	10	9	0	1	1	1	0	0	1	1	3	1	3	1	3	3	2	1	3	4	2	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.37T>A	p.Phe13Ile	p.F13I	ENST00000367927	1/7	165	148	17	127	127	0	strelka-mutect	VNN3,missense_variant,p.Phe13Ile,ENST00000425515,;VNN3,missense_variant,p.Phe13Ile,ENST00000367927,NM_001291703.1,NM_001291702.1;VNN3,missense_variant,p.Phe13Ile,ENST00000509351,;VNN3,missense_variant,p.Phe13Ile,ENST00000392393,;VNN3,missense_variant,p.Phe13Ile,ENST00000519686,;VNN3,missense_variant,p.Phe13Ile,ENST00000414302,;VNN3,missense_variant,p.Phe13Ile,ENST00000275223,;VNN3,missense_variant,p.Phe13Ile,ENST00000427187,;VNN3,missense_variant,p.Phe13Ile,ENST00000417437,;VNN3,missense_variant,p.Phe13Ile,ENST00000423615,;VNN3,missense_variant,p.Phe13Ile,ENST00000450865,;VNN3,upstream_gene_variant,,ENST00000544102,;VNN3,upstream_gene_variant,,ENST00000580813,;VNN3,non_coding_transcript_exon_variant,,ENST00000448644,;	T	ENST00000367927	Transcript	missense_variant	110/1717	37/825	13/274	F/I	Ttt/Att		1		-1	VNN3	HGNC	HGNC:16431	protein_coding	YES		ENSP00000438024	Q9NY84		UPI0000072390	NM_001291703.1,NM_001291702.1	deleterious(0.04)		1/7		hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF4,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	132734656	132734656	A	T	1	0	0	0	0	1	0	0	0	17731	14	1	4		4	VNN3	6	132734656	Missense_Mutation	SNP	A	C3N-01071_TP	9516031	132734656	38071323	140	23127											
GRM1	0	.	GRCh38	chr6	146399509	146399509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcagtgagtctcagtgtaAcagtggctctggggtgcatg	7	12	15	7	0	2	1	1	1	2	0	3	1	2	1	0	3	3	4	0	3	1	2			C3N-01071_TP	C3N-01071_NB	A	A																c.2470A>G	p.Thr824Ala	p.T824A	ENST00000361719	8/9	618	574	44	503	503	0	strelka-varscan-mutect	GRM1,missense_variant,p.Thr824Ala,ENST00000492807,NM_001278065.1,NM_001278066.1;GRM1,missense_variant,p.Thr824Ala,ENST00000361719,;GRM1,missense_variant,p.Thr824Ala,ENST00000282753,NM_001278064.1;GRM1,missense_variant,p.Thr824Ala,ENST00000355289,NM_001278067.1;GRM1,missense_variant,p.Thr824Ala,ENST00000507907,;	G	ENST00000361719	Transcript	missense_variant	2837/6754	2470/3585	824/1194	T/A	Aca/Gca	COSM3017890,COSM3017891	1		1	GRM1	HGNC	HGNC:4593	protein_coding	YES	CCDS5209.1	ENSP00000354896	Q13255		UPI000013DCFD		deleterious(0.03)		8/9		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF29,Pfam_domain:PF00003,Prints_domain:PR00593											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												G	3	3	71	146399509	146399509	A	G	1	0	0	0	0	1	0	0	0	6678	43	2	5		5	GRM1	6	146399509	Missense_Mutation	SNP	A	C3N-01071_TP	13664853	146399509	24406470	141	23128											
ARID1B	0	.	GRCh38	chr6	157148908	157148908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtaaggcacaggaggcaGccgcagcagtgatgcaggct	11	4	15	11	2	0	1	0	1	0	0	0	2	0	2	2	4	3	7	2	4	1	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.2836G>T	p.Ala946Ser	p.A946S	ENST00000346085	9/20	196	177	19	206	206	0	strelka-varscan-mutect	ARID1B,missense_variant,p.Ala946Ser,ENST00000346085,NM_020732.3;ARID1B,missense_variant,p.Ala933Ser,ENST00000636930,;ARID1B,missense_variant,p.Ala933Ser,ENST00000350026,NM_017519.2;ARID1B,missense_variant,p.Ala402Ser,ENST00000414678,;ARID1B,missense_variant,p.Ala183Ser,ENST00000637904,;ARID1B,missense_variant,p.Ala123Ser,ENST00000635849,;ARID1B,missense_variant,p.Ala96Ser,ENST00000637015,;ARID1B,missense_variant,p.Ala183Ser,ENST00000637810,;ARID1B,missense_variant,p.Ala1Ser,ENST00000635957,;ARID1B,missense_variant,p.Ala354Ser,ENST00000319584,;ARID1B,upstream_gene_variant,,ENST00000400790,;ARID1B,missense_variant,p.Ala31Ser,ENST00000637568,;ARID1B,non_coding_transcript_exon_variant,,ENST00000452544,;ARID1B,non_coding_transcript_exon_variant,,ENST00000636426,;	T	ENST00000346085	Transcript	missense_variant	3392/10194	2836/6750	946/2249	A/S	Gcc/Tcc		1		1	ARID1B	HGNC	HGNC:18040	protein_coding	YES	CCDS55072.1	ENSP00000344546	Q8NFD5		UPI000058E4B2	NM_020732.3	tolerated_low_confidence(0.07)		9/20		Low_complexity_(Seg):seg,hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	157148908	157148908	G	T	1	0	0	0	0	1	0	0	0	1050	971	34	2		2	ARID1B	6	157148908	Missense_Mutation	SNP	G	C3N-01071_TP	10749399	157148908	13657071	142	23129											
FNDC1	0	.	GRCh38	chr6	159234367	159234367	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcagtacaccacgcgcgcCccacctggccacttctccac	7	5	7	22	4	1	0	0	0	1	0	2	0	1	0	7	1	1	2	7	1	1	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.3855C>T	p.=	p.A1285A	ENST00000297267	11/23	380	350	30	456	456	0	strelka-varscan-mutect	FNDC1,synonymous_variant,p.=,ENST00000297267,NM_032532.2;FNDC1,synonymous_variant,p.=,ENST00000329629,;	T	ENST00000297267	Transcript	synonymous_variant	4055/6552	3855/5685	1285/1894	A	gcC/gcT		1		1	FNDC1	HGNC	HGNC:21184	protein_coding	YES	CCDS47512.1	ENSP00000297267	Q4ZHG4		UPI0000579B80	NM_032532.2			11/23		hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF8																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	71	159234367	159234367	C	T	1	0	0	0	0	0	0	0	1	5824	610	22	3		3	FNDC1	6	159234367	Silent	SNP	C	C3N-01071_TP	2085459	159234367	11571612	143	23130											
RPS6KA2	0	.	GRCh38	chr6	166412824	166412824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaggttggatgacagcaCgggctccagccgcggggcct	7	5	16	13	3	0	1	0	1	0	0	1	2	1	2	4	5	3	3	4	5	0	1	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.2164G>C	p.Val722Leu	p.V722L	ENST00000503859	22/22	203	191	12	180	180	0	strelka-varscan-mutect	RPS6KA2,missense_variant,p.Val739Leu,ENST00000510118,NM_001318936.1;RPS6KA2,missense_variant,p.Val714Leu,ENST00000265678,NM_001318938.1,NM_001318937.1,NM_021135.4;RPS6KA2,missense_variant,p.Val722Leu,ENST00000503859,NM_001006932.1;RPS6KA2,missense_variant,p.Val625Leu,ENST00000481261,;RPS6KA2,missense_variant,p.Val625Leu,ENST00000405189,;RPS6KA2,non_coding_transcript_exon_variant,,ENST00000509742,;	G	ENST00000503859	Transcript	missense_variant	2545/4137	2164/2226	722/741	V/L	Gtg/Ctg		1		-1	RPS6KA2	HGNC	HGNC:10431	protein_coding	YES	CCDS34570.1	ENSP00000427015	Q15349		UPI000020D48C	NM_001006932.1	deleterious(0)		22/22		PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs890556346	.												G	3	3	71	166412824	166412824	C	G	1	0	0	0	0	1	0	0	0	13906	536	19	4		4	RPS6KA2	6	166412824	Missense_Mutation	SNP	C	C3N-01071_TP	7178457	166412824	4393155	144	23131											
TCP10	0	.	GRCh38	chr6	167373199	167373199	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctgtctggagggagcGgcgtgcagagctcctggaaa	8	8	16	9	2	1	1	0	0	1	1	3	4	3	4	2	4	3	2	2	4	1	0	rs375831091		C3N-01071_TP	C3N-01071_NB	G	G																c.951C>A	p.=	p.A317A	ENST00000397829	8/8	205	187	18	206	205	1	varscan-mutect	TCP10,synonymous_variant,p.=,ENST00000617120,;TCP10,synonymous_variant,p.=,ENST00000397829,NM_004610.3;TCP10,intron_variant,,ENST00000366827,;TCP10,downstream_gene_variant,,ENST00000460930,;TCP10,non_coding_transcript_exon_variant,,ENST00000514083,;TCP10,intron_variant,,ENST00000508373,;TCP10,downstream_gene_variant,,ENST00000463894,;TCP10,downstream_gene_variant,,ENST00000491085,;	T	ENST00000397829	Transcript	synonymous_variant	1119/2141	951/981	317/326	A	gcC/gcA	rs375831091	1		-1	TCP10	HGNC	HGNC:11656	protein_coding	YES	CCDS43527.1	ENSP00000380929		D1MPS5	UPI0000D820CE	NM_004610.3			8/8																			LOW	1	SNV	1			1										PASS		rs375831091	.												T	2	4	71	167373199	167373199	G	T	1	0	0	0	0	0	0	0	1	16117	1103	39	1		1	TCP10	6	167373199	Silent	SNP	G	C3N-01071_TP	960375	167373199	3432780	145	23132											
MLLT4	0	.	GRCh38	chr6	167948298	167948298	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcacattttacaggagcaGacgcctccgcctagacctga	10	9	8	14	2	1	3	1	1	0	2	2	4	2	4	4	1	2	1	4	1	2	4	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.3507G>C	p.Gln1169His	p.Q1169H	ENST00000366806	28/33	105	97	8	81	81	0	strelka-varscan-mutect	MLLT4,missense_variant,p.Gln1209His,ENST00000400822,;MLLT4,missense_variant,p.Gln1193His,ENST00000392112,NM_001207008.1;MLLT4,missense_variant,p.Gln1210His,ENST00000392108,NM_001040000.2;MLLT4,missense_variant,p.Gln1169His,ENST00000366806,NM_001291964.1;MLLT4,missense_variant,p.Gln1217His,ENST00000351017,;MLLT4,missense_variant,p.Gln1210His,ENST00000447894,;MLLT4,missense_variant,p.Gln1210His,ENST00000344191,;MLLT4,upstream_gene_variant,,ENST00000507704,;MLLT4,upstream_gene_variant,,ENST00000476946,;MLLT4,downstream_gene_variant,,ENST00000507679,;MLLT4,non_coding_transcript_exon_variant,,ENST00000511637,;MLLT4,non_coding_transcript_exon_variant,,ENST00000366809,;MLLT4,non_coding_transcript_exon_variant,,ENST00000509296,;	C	ENST00000366806	Transcript	missense_variant	3826/5962	3507/5346	1169/1781	Q/H	caG/caC		1		1	MLLT4	HGNC	HGNC:7137	protein_coding	YES	CCDS78199.1	ENSP00000355771		A8MQ02	UPI00045D52FC	NM_001291964.1	deleterious_low_confidence(0)		28/33		hmmpanther:PTHR10398																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	71	167948298	167948298	G	C	1	0	0	0	0	1	0	0	0	9592	956	33	4		4	MLLT4	6	167948298	Missense_Mutation	SNP	G	C3N-01071_TP	575099	167948298	2857681	146	23133											
TCTE3	0	.	GRCh38	chr6	169744124	169744124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcttggaatttcttcaatgGctccattctatatgaattag	11	16	7	7	0	3	1	1	1	2	0	4	2	4	2	1	2	1	2	1	2	6	7	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.271C>T	p.Pro91Ser	p.P91S	ENST00000366774	2/4	292	269	23	256	255	1	strelka-mutect	TCTE3,missense_variant,p.Pro91Ser,ENST00000366774,NM_174910.1;	A	ENST00000366774	Transcript	missense_variant	372/769	271/597	91/198	P/S	Cca/Tca		1		-1	TCTE3	HGNC	HGNC:11695	protein_coding	YES	CCDS5310.1	ENSP00000355736	Q8IZS6		UPI0000061E54	NM_174910.1	tolerated(0.12)		2/4		hmmpanther:PTHR21255:SF27,hmmpanther:PTHR21255																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	169744124	169744124	G	A	1	0	0	0	0	1	0	0	0	16126	1203	42	3		3	TCTE3	6	169744124	Missense_Mutation	SNP	G	C3N-01071_TP	1795826	169744124	1061855	147	23134											
SNX10	0	.	GRCh38	chr7	26371848	26371848	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgcacttttgctttcAgatagcagccttcacctctt	9	14	6	12	0	3	2	2	0	1	2	3	2	3	2	2	0	4	3	2	0	2	6	rs182313404		C3N-01071_TP	C3N-01071_NB	A	A																c.339A>C	p.=	p.S113S	ENST00000446848	6/7	246	228	18	228	228	0	strelka-varscan-mutect	SNX10,synonymous_variant,p.=,ENST00000446848,NM_001199835.1;SNX10,synonymous_variant,p.=,ENST00000338523,NM_013322.2;SNX10,synonymous_variant,p.=,ENST00000396376,NM_001199837.1,NM_001318199.1;SNX10,synonymous_variant,p.=,ENST00000619420,;SNX10,synonymous_variant,p.=,ENST00000409838,NM_001199838.1;SNX10,synonymous_variant,p.=,ENST00000416246,;SNX10,synonymous_variant,p.=,ENST00000409367,;AC004540.4,downstream_gene_variant,,ENST00000451368,;AC004540.4,downstream_gene_variant,,ENST00000451264,;SNX10,non_coding_transcript_exon_variant,,ENST00000462993,;	C	ENST00000446848	Transcript	synonymous_variant	601/2613	339/606	113/201	S	tcA/tcC	rs182313404	1		1	SNX10	HGNC	HGNC:14974	protein_coding	YES	CCDS5399.1	ENSP00000395474	Q9Y5X0	A0A024RA70	UPI000003E7DF	NM_001199835.1			6/7		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF128,Low_complexity_(Seg):seg,SMART_domains:SM00312,Superfamily_domains:SSF64268																	LOW	1	SNV	1			1										PASS		rs182313404	.												C	2	2	71	26371848	26371848	A	C	1	0	0	0	0	0	0	0	1	15202	175	7	5		5	SNX10	7	26371848	Silent	SNP	A	C3N-01071_TP		26371848	132974125	148	23135											
GCK	0	.	GRCh38	chr7	44152399	44152399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagttagtgccacccaGgtccagggagaggaagtccc	10	6	13	12	0	0	2	0	1	0	1	2	4	2	3	5	3	1	1	5	3	3	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.238C>A	p.Leu80Met	p.L80M	ENST00000345378	3/10	677	535	142	581	581	0	strelka-varscan-mutect	GCK,missense_variant,p.Leu79Met,ENST00000403799,NM_000162.3;GCK,missense_variant,p.Leu78Met,ENST00000395796,NM_033508.1;GCK,missense_variant,p.Leu80Met,ENST00000345378,NM_033507.1;GCK,missense_variant,p.Leu78Met,ENST00000616242,;GCK,missense_variant,p.Leu79Met,ENST00000437084,;GCK,downstream_gene_variant,,ENST00000476008,;	T	ENST00000345378	Transcript	missense_variant	400/2421	238/1401	80/466	L/M	Ctg/Atg		1		-1	GCK	HGNC	HGNC:4195	protein_coding	YES	CCDS5480.1	ENSP00000223366	P35557		UPI000002AB76	NM_033507.1	deleterious(0)		3/10		Gene3D:3.30.420.40,Pfam_domain:PF00349,Prints_domain:PR00475,PROSITE_profiles:PS51748,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF3,Superfamily_domains:SSF53067																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	71	44152399	44152399	G	T	1	0	0	0	0	1	0	0	0	6163	991	35	2		2	GCK	7	44152399	Missense_Mutation	SNP	G	C3N-01071_TP	17780551	44152399	115193574	149	23136											
C7orf72	0	.	GRCh38	chr7	50096440	50096440	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcctggtggtgatgctgatTtaaatcctggcattggcaga	8	13	13	7	0	0	3	0	2	0	1	2	3	2	3	2	4	1	3	2	4	2	3	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.355T>G	p.Leu119Val	p.L119V	ENST00000297001	1/9	92	74	18	74	74	0	strelka-varscan-mutect	C7orf72,missense_variant,p.Leu119Val,ENST00000297001,NM_001161834.2;ZPBP,intron_variant,,ENST00000450231,;ZPBP,upstream_gene_variant,,ENST00000046087,NM_007009.2;ZPBP,upstream_gene_variant,,ENST00000419417,NM_001159878.1;ZPBP,upstream_gene_variant,,ENST00000413331,;	G	ENST00000297001	Transcript	missense_variant	405/2028	355/1317	119/438	L/V	Tta/Gta		1		1	C7orf72	HGNC	HGNC:22564	protein_coding	YES	CCDS47585.1	ENSP00000297001	A4D263		UPI00001D7424	NM_001161834.2	deleterious(0.04)		1/9		hmmpanther:PTHR34759																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	71	50096440	50096440	T	G	1	0	0	0	0	1	0	0	0	2147	1838	64	5		5	C7orf72	7	50096440	Missense_Mutation	SNP	T	C3N-01071_TP	5944041	50096440	109249533	150	23137											
COBL	0	.	GRCh38	chr7	51029181	51029181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatttaggttgtctgtgtGaagattcgaagcaaaagaag	13	12	12	4	1	1	3	0	1	1	2	2	4	1	3	0	1	2	3	0	1	6	4	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.2086C>T	p.His696Tyr	p.H696Y	ENST00000395542	11/14	203	185	18	234	234	0	strelka-varscan-mutect	COBL,missense_variant,p.His696Tyr,ENST00000395542,NM_001287436.1;COBL,missense_variant,p.His639Tyr,ENST00000265136,NM_015198.3;COBL,missense_variant,p.His524Tyr,ENST00000431948,;COBL,missense_variant,p.His531Tyr,ENST00000445054,;COBL,incomplete_terminal_codon_variant,p.=,ENST00000452534,;COBL,non_coding_transcript_exon_variant,,ENST00000462395,;	A	ENST00000395542	Transcript	missense_variant	2271/5339	2086/3816	696/1271	H/Y	Cac/Tac		1		-1	COBL	HGNC	HGNC:22199	protein_coding	YES	CCDS75602.1	ENSP00000378912	O75128		UPI0001F992C3	NM_001287436.1	tolerated(1)		11/14		hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	51029181	51029181	G	A	1	0	0	0	0	1	0	0	0	3442	1290	45	3		3	COBL	7	51029181	Missense_Mutation	SNP	G	C3N-01071_TP	932741	51029181	108316792	151	23138											
POM121L12	0	.	GRCh38	chr7	53036199	53036199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacccctgcacccgggaGactctgctgggggcgctcag	5	6	15	15	2	2	1	1	0	1	1	2	3	2	2	3	4	2	3	3	4	0	0	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.528G>T	p.Glu176Asp	p.E176D	ENST00000408890	1/1	197	168	29	206	206	0	strelka-varscan-mutect	POM121L12,missense_variant,p.Glu176Asp,ENST00000408890,NM_182595.3;	T	ENST00000408890	Transcript	missense_variant	558/1283	528/891	176/296	E/D	gaG/gaT		1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3	tolerated(0.06)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	71	53036199	53036199	G	T	1	0	0	0	0	1	0	0	0	12352	933	33	2		2	POM121L12	7	53036199	Missense_Mutation	SNP	G	C3N-01071_TP	2007018	53036199	106309774	152	23139											
ZNF736	0	.	GRCh38	chr7	64348707	64348707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataagagaattcatactggaGagaaaccctacaaatgtgaa	19	8	8	6	0	1	3	1	1	0	2	1	6	1	4	1	1	3	0	1	1	7	4	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.844G>A	p.Glu282Lys	p.E282K	ENST00000423484	4/4	118	110	8	129	129	0	varscan-mutect	ZNF736,missense_variant,p.Glu282Lys,ENST00000423484,NM_001170905.2;ZNF736,missense_variant,p.Glu282Lys,ENST00000355095,;	A	ENST00000423484	Transcript	missense_variant	966/7119	844/1284	282/427	E/K	Gag/Aag		1		1	ZNF736	HGNC	HGNC:32467	protein_coding	YES	CCDS55114.1	ENSP00000400852	B4DX44		UPI0001662442	NM_001170905.2	tolerated(0.08)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF98,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	71	64348707	64348707	G	A	1	0	0	0	0	1	0	0	0	18707	943	33	3		3	ZNF736	7	64348707	Missense_Mutation	SNP	G	C3N-01071_TP	11312508	64348707	94997266	153	23140											
CLDN4	0	.	GRCh38	chr7	73831241	73831241	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtaatgggcatcgcgctgGccgtcctgggctggctggcc	4	8	17	12	3	0	0	0	0	0	0	2	0	1	0	3	6	0	5	3	6	1	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.40G>T	p.Ala14Ser	p.A14S	ENST00000435050	2/2	50	46	4	36	36	0	strelka-mutect	CLDN4,missense_variant,p.Ala14Ser,ENST00000435050,;CLDN4,missense_variant,p.Ala14Ser,ENST00000431918,;CLDN4,missense_variant,p.Ala14Ser,ENST00000340958,NM_001305.4;WBSCR27,downstream_gene_variant,,ENST00000297873,NM_152559.2;CLDN4,downstream_gene_variant,,ENST00000466411,;CLDN4,downstream_gene_variant,,ENST00000476494,;WBSCR27,downstream_gene_variant,,ENST00000458679,;	T	ENST00000435050	Transcript	missense_variant	2720/4163	40/630	14/209	A/S	Gcc/Tcc		1		1	CLDN4	HGNC	HGNC:2046	protein_coding	YES	CCDS5560.1	ENSP00000409544	O14493	Q75L80	UPI0000044941		tolerated(0.89)		2/2		Pfam_domain:PF00822,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF112,Transmembrane_helices:TMhelix																	MODERATE		SNV	2			1										PASS		rs1175384945	.												T	3	4	71	73831241	73831241	G	T	1	0	0	0	0	1	0	0	0	3253	1203	42	2		2	CLDN4	7	73831241	Missense_Mutation	SNP	G	C3N-01071_TP	9482534	73831241	85514732	154	23141											
PCLO	0	.	GRCh38	chr7	82965844	82965844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggctgttcttttattgttTtggttgtcttatcatcttct	3	24	8	6	0	5	0	1	0	4	0	5	0	5	0	0	2	0	4	0	2	2	9			C3N-01071_TP	C3N-01071_NB	T	T																c.3944A>G	p.Lys1315Arg	p.K1315R	ENST00000333891	4/25	141	123	18	163	163	0	strelka-varscan-mutect	PCLO,missense_variant,p.Lys1315Arg,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Lys1315Arg,ENST00000423517,NM_014510.2;PCLO,downstream_gene_variant,,ENST00000461143,;	C	ENST00000333891	Transcript	missense_variant	4282/20329	3944/15429	1315/5142	K/R	aAa/aGa	COSM485630,COSM485631,COSM485632	1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	tolerated(0.32)		4/25		Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113											1,1,1						MODERATE	1	SNV	2		1,1,1	1										PASS		.	.												C	3	2	71	82965844	82965844	T	C	1	0	0	0	0	1	0	0	0	11671	1841	64	5		5	PCLO	7	82965844	Missense_Mutation	SNP	T	C3N-01071_TP	9134603	82965844	76380129	155	23142											
CALCR	0	.	GRCh38	chr7	93438128	93438128	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacactcagccagcagcTgaaaaagggcaaggggacaa	15	4	11	11	0	1	1	1	1	0	0	2	2	2	2	2	3	3	3	2	3	4	1	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.966-2A>T		p.X322_splice	ENST00000359558		248	213	35	244	244	0	strelka-varscan-mutect	CALCR,splice_acceptor_variant,,ENST00000359558,NM_001164737.1;CALCR,splice_acceptor_variant,,ENST00000421592,;CALCR,splice_acceptor_variant,,ENST00000394441,NM_001164738.1;CALCR,splice_acceptor_variant,,ENST00000426151,NM_001742.3;CALCR,splice_acceptor_variant,,ENST00000360249,;CALCR,splice_acceptor_variant,,ENST00000423724,;CALCR,splice_acceptor_variant,,ENST00000415529,;	A	ENST00000359558	Transcript	splice_acceptor_variant	-/3696	966/1527	322/508				1		-1	CALCR	HGNC	HGNC:1440	protein_coding	YES	CCDS55125.1	ENSP00000352561		A0A0A0MRG0	UPI0001B8380B	NM_001164737.1				12/15																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	71	93438128	93438128	T	A	1	0	0	0	0	0	0	1	0	2269	1594	55	4		4	CALCR	7	93438128	Splice_Site	SNP	T	C3N-01071_TP	10472284	93438128	65907845	156	23143											
TAF6	0	.	GRCh38	chr7	100114089	100114089	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgcggtagctgacctcatCcgttagcagctggcaggtct	7	10	13	11	2	2	1	1	1	1	0	3	2	3	1	2	3	4	6	2	3	2	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.232G>C	p.Asp78His	p.D78H	ENST00000437822	2/15	175	141	34	166	166	0	strelka-varscan-mutect	TAF6,missense_variant,p.Asp41His,ENST00000344095,NM_005641.3;TAF6,missense_variant,p.Asp98His,ENST00000472509,;TAF6,missense_variant,p.Asp41His,ENST00000453269,NM_139315.2;TAF6,missense_variant,p.Asp78His,ENST00000437822,NM_001190415.1;TAF6,missense_variant,p.Asp41His,ENST00000452041,;TAF6,missense_variant,p.Asp41His,ENST00000493322,;TAF6,missense_variant,p.Asp41His,ENST00000440225,;TAF6,missense_variant,p.Asp41His,ENST00000523306,;TAF6,missense_variant,p.Asp41His,ENST00000451699,;TAF6,missense_variant,p.Asp41His,ENST00000449571,;TAF6,missense_variant,p.Asp41His,ENST00000452438,;TAF6,missense_variant,p.Asp41His,ENST00000520135,;TAF6,missense_variant,p.Asp41His,ENST00000417349,;AP4M1,downstream_gene_variant,,ENST00000421755,;AP4M1,downstream_gene_variant,,ENST00000450807,;TAF6,downstream_gene_variant,,ENST00000460673,;TAF6,downstream_gene_variant,,ENST00000431404,;RP11-506M12.1,downstream_gene_variant,,ENST00000494221,;TAF6,downstream_gene_variant,,ENST00000497233,;TAF6,missense_variant,p.Asp41His,ENST00000421980,;TAF6,non_coding_transcript_exon_variant,,ENST00000487288,;TAF6,upstream_gene_variant,,ENST00000487115,;	G	ENST00000437822	Transcript	missense_variant	327/2318	232/2145	78/714	D/H	Gat/Cat		1		-1	TAF6	HGNC	HGNC:11540	protein_coding	YES	CCDS55135.1	ENSP00000399982	P49848		UPI00017A7AA3	NM_001190415.1	deleterious(0.02)		2/15		Gene3D:1.10.20.10,Pfam_domain:PF02969,hmmpanther:PTHR10221,hmmpanther:PTHR10221:SF12,SMART_domains:SM00803,Superfamily_domains:SSF47113																	MODERATE	1	SNV	2			1										PASS		rs1455482147	.												G	3	3	71	100114089	100114089	C	G	1	0	0	0	0	1	0	0	0	15926	855	30	4		4	TAF6	7	100114089	Missense_Mutation	SNP	C	C3N-01071_TP	6675961	100114089	59231884	157	23144											
NAT16	0	.	GRCh38	chr7	101172225	101172225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgaggccaacgaggcgcgGggcctggcgctgcaggtgcc	5	5	19	12	4	0	1	0	1	0	0	0	2	0	1	3	6	3	3	3	6	1	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.964C>A	p.Pro322Thr	p.P322T	ENST00000300303	4/4	159	131	28	258	258	0	strelka-varscan-mutect	NAT16,missense_variant,p.Pro322Thr,ENST00000300303,NM_198571.2;NAT16,missense_variant,p.Pro322Thr,ENST00000455377,;NAT16,downstream_gene_variant,,ENST00000443096,;NAT16,downstream_gene_variant,,ENST00000444446,;	T	ENST00000300303	Transcript	missense_variant	1203/2935	964/1110	322/369	P/T	Ccg/Acg		1		-1	NAT16	HGNC	HGNC:22030	protein_coding	YES	CCDS5713.1	ENSP00000300303	Q8N8M0		UPI000013E649	NM_198571.2	tolerated(0.19)		4/4																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	71	101172225	101172225	G	T	1	0	0	0	0	1	0	0	0	10185	1232	43	2		2	NAT16	7	101172225	Missense_Mutation	SNP	G	C3N-01071_TP	1058136	101172225	58173748	158	23145											
CDHR3	0	.	GRCh38	chr7	106004668	106004668	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacgacaatcctgccacaTgccaaaagttcaccttcagg	13	8	6	14	1	3	0	3	0	0	0	4	1	4	0	4	1	3	1	4	1	4	2	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.1033T>G	p.Cys345Gly	p.C345G	ENST00000317716	8/19	209	187	22	459	457	2	strelka-varscan-mutect	CDHR3,missense_variant,p.Cys345Gly,ENST00000317716,NM_152750.4;CDHR3,missense_variant,p.Cys257Gly,ENST00000478080,NM_001301161.1;CDHR3,missense_variant,p.Cys103Gly,ENST00000466045,;CDHR3,non_coding_transcript_exon_variant,,ENST00000470188,;CDHR3,non_coding_transcript_exon_variant,,ENST00000461766,;CDHR3,3_prime_UTR_variant,,ENST00000496633,;CDHR3,non_coding_transcript_exon_variant,,ENST00000471910,;CDHR3,non_coding_transcript_exon_variant,,ENST00000466351,;CDHR3,downstream_gene_variant,,ENST00000488386,;	G	ENST00000317716	Transcript	missense_variant	1113/3813	1033/2658	345/885	C/G	Tgc/Ggc		1		1	CDHR3	HGNC	HGNC:26308	protein_coding	YES	CCDS47684.1	ENSP00000325954	Q6ZTQ4		UPI00001C0C6E	NM_152750.4	deleterious(0)		8/19		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF336,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	106004668	106004668	T	G	1	0	0	0	0	1	0	0	0	2823	1464	51	5		5	CDHR3	7	106004668	Missense_Mutation	SNP	T	C3N-01071_TP	4832443	106004668	53341305	159	23146											
ZNF277	0	.	GRCh38	chr7	112318216	112318216	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacagcagcaagaacgaaAtgataccaattttcatggcg	17	7	8	9	2	1	2	1	1	0	1	1	3	1	2	1	1	5	2	1	1	6	3	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.500A>T	p.Asn167Ile	p.N167I	ENST00000361822	5/12	274	254	20	221	221	0	strelka-varscan-mutect	ZNF277,missense_variant,p.Asn167Ile,ENST00000361822,NM_021994.2;ZNF277,missense_variant,p.Asn167Ile,ENST00000450657,;ZNF277,intron_variant,,ENST00000425229,;ZNF277,3_prime_UTR_variant,,ENST00000361946,;ZNF277,3_prime_UTR_variant,,ENST00000457808,;	T	ENST00000361822	Transcript	missense_variant	629/1849	500/1353	167/450	N/I	aAt/aTt		1		1	ZNF277	HGNC	HGNC:13070	protein_coding	YES	CCDS5755.2	ENSP00000354501	Q9NRM2		UPI00000437E2	NM_021994.2	tolerated(0.14)		5/12		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13267,hmmpanther:PTHR13267:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	112318216	112318216	A	T	1	0	0	0	0	1	0	0	0	18388	101	4	4		4	ZNF277	7	112318216	Missense_Mutation	SNP	A	C3N-01071_TP	6313548	112318216	47027757	160	23147											
PPP1R3A	0	.	GRCh38	chr7	113878348	113878348	+	Frame_Shift_Del	DEL	G	G	-																															cagtatgatgtttggaaaaaGgagagctattctgaggagct																										C3N-01071_TP	C3N-01071_NB	G	G																c.2744delC	p.Pro915LeufsTer20	p.P915Lfs*20	ENST00000284601	4/4	258	244	14	209	209	0	varindel-pindel	PPP1R3A,frameshift_variant,p.Pro915LeufsTer20,ENST00000284601,NM_002711.3;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	-	ENST00000284601	Transcript	frameshift_variant	2813/4384	2744/3369	915/1122	P/X	cCt/ct	COSM3922500,COSM3922501	1		-1	PPP1R3A	HGNC	HGNC:9291	protein_coding	YES	CCDS5759.1	ENSP00000284601	Q16821		UPI000013DDAA	NM_002711.3			4/4		hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2											1,1						HIGH	1	deletion	1		1,1	1										PASS		.	.												-	7	5	71	113878348	113878348	G	-	1	0	1	0	1	0	0	0	0	12492	1000	35	0		0	PPP1R3A	7	113878348	Frame_Shift_Del	DEL	G	C3N-01071_TP	1560132	113878348	45467625	161	23148											
RNF133	0	.	GRCh38	chr7	122698693	122698693	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttttccctctggtggcaCtataactcctgccactctct	6	15	6	14	0	2	0	0	0	2	0	5	1	4	0	3	2	2	1	3	2	2	4	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.226G>T	p.Val76Leu	p.V76L	ENST00000340112	1/1	129	102	27	110	110	0	strelka-varscan-mutect	RNF133,missense_variant,p.Val76Leu,ENST00000340112,NM_139175.1;CADPS2,intron_variant,,ENST00000615869,;CADPS2,intron_variant,,ENST00000313070,NM_001167940.1;CADPS2,intron_variant,,ENST00000334010,;CADPS2,intron_variant,,ENST00000412584,NM_001009571.3;CADPS2,intron_variant,,ENST00000449022,NM_017954.10;RNF148,downstream_gene_variant,,ENST00000434824,NM_198085.1;RNF148,downstream_gene_variant,,ENST00000447240,;	A	ENST00000340112	Transcript	missense_variant	464/1445	226/1131	76/376	V/L	Gtg/Ttg		1		-1	RNF133	HGNC	HGNC:21154	protein_coding	YES	CCDS5784.1	ENSP00000344489	Q8WVZ7		UPI0000070D9A	NM_139175.1	tolerated(0.16)		1/1		hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF38																	MODERATE		SNV				1										PASS		.	.												A	3	1	71	122698693	122698693	C	A	1	0	0	0	0	1	0	0	0	13617	565	20	2		2	RNF133	7	122698693	Missense_Mutation	SNP	C	C3N-01071_TP	8820345	122698693	36647280	162	23149											
ZNF786	0	.	GRCh38	chr7	149071533	149071533	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcgcgtgctggtggacCtgcagcaggcggcgcaggcg	4	5	19	13	6	0	0	0	0	0	0	0	1	0	1	2	5	4	4	2	5	0	0	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1239G>T	p.Gln413His	p.Q413H	ENST00000491431	4/4	265	246	19	180	180	0	strelka-varscan-mutect	ZNF786,missense_variant,p.Gln327His,ENST00000316286,;ZNF786,missense_variant,p.Gln413His,ENST00000491431,NM_152411.3;	A	ENST00000491431	Transcript	missense_variant	1304/2874	1239/2349	413/782	Q/H	caG/caT		1		-1	ZNF786	HGNC	HGNC:21806	protein_coding	YES	CCDS47738.1	ENSP00000417470	Q8N393		UPI000013FD40	NM_152411.3	tolerated(0.1)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF228,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	149071533	149071533	C	A	1	0	0	0	0	1	0	0	0	18742	680	24	2		2	ZNF786	7	149071533	Missense_Mutation	SNP	C	C3N-01071_TP	26372840	149071533	10274440	163	23150											
ACTR3C	0	.	GRCh38	chr7	150293325	150293325	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttaccactgggataacaTgggtgactccatctccgctg	8	11	10	12	1	1	1	0	1	1	0	3	2	2	2	3	2	3	2	3	2	2	2	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.140A>T	p.His47Leu	p.H47L	ENST00000252071	3/8	224	187	37	196	196	0	strelka-varscan-mutect	ACTR3C,missense_variant,p.His47Leu,ENST00000252071,NM_001164458.1,NM_001164459.1;ACTR3C,missense_variant,p.His146Leu,ENST00000477871,;ACTR3C,missense_variant,p.His47Leu,ENST00000539352,;ACTR3C,missense_variant,p.His47Leu,ENST00000477367,;ACTR3C,intron_variant,,ENST00000478393,;	A	ENST00000252071	Transcript	missense_variant	330/1218	140/633	47/210	H/L	cAt/cTt		1		-1	ACTR3C	HGNC	HGNC:37282	protein_coding	YES	CCDS47744.1	ENSP00000252071	Q9C0K3		UPI000007168D	NM_001164458.1,NM_001164459.1	deleterious(0.01)		3/8		Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF170,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	150293325	150293325	T	A	1	0	0	0	0	1	0	0	0	257	1464	51	4		4	ACTR3C	7	150293325	Missense_Mutation	SNP	T	C3N-01071_TP	1221792	150293325	9052648	164	23151											
REPIN1	0	.	GRCh38	chr7	150372598	150372598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggcgcatcggcgcgacCacgcccccgatcggcccttc	4	5	13	19	8	0	0	0	0	0	0	3	2	0	0	4	4	0	1	4	4	0	1	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1528C>T	p.His510Tyr	p.H510Y	ENST00000489432	3/3	127	112	15	124	124	0	strelka-varscan-mutect	REPIN1,missense_variant,p.His453Tyr,ENST00000397281,NM_013400.3;REPIN1,missense_variant,p.His453Tyr,ENST00000444957,NM_001099696.2;REPIN1,missense_variant,p.His453Tyr,ENST00000425389,NM_014374.3;REPIN1,missense_variant,p.His510Tyr,ENST00000489432,NM_001099695.1;REPIN1,3_prime_UTR_variant,,ENST00000479668,;ZNF775,intron_variant,,ENST00000478789,;REPIN1,downstream_gene_variant,,ENST00000488943,;REPIN1,downstream_gene_variant,,ENST00000475514,;REPIN1,downstream_gene_variant,,ENST00000482680,;REPIN1,downstream_gene_variant,,ENST00000466559,;REPIN1,downstream_gene_variant,,ENST00000519397,;REPIN1,downstream_gene_variant,,ENST00000518514,;RP4-584D14.5,upstream_gene_variant,,ENST00000488310,;REPIN1,downstream_gene_variant,,ENST00000518462,;REPIN1,downstream_gene_variant,,ENST00000473391,;REPIN1,downstream_gene_variant,,ENST00000469309,;REPIN1,downstream_gene_variant,,ENST00000467980,;REPIN1,downstream_gene_variant,,ENST00000486714,;REPIN1,downstream_gene_variant,,ENST00000495535,;REPIN1,downstream_gene_variant,,ENST00000522266,;REPIN1,downstream_gene_variant,,ENST00000487455,;	T	ENST00000489432	Transcript	missense_variant	1711/2058	1528/1875	510/624	H/Y	Cac/Tac		1		1	REPIN1	HGNC	HGNC:17922	protein_coding	YES	CCDS47745.1	ENSP00000417291	Q9BWE0		UPI0001596898	NM_001099695.1	deleterious(0)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24406,hmmpanther:PTHR24406:SF1,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		rs1198696228	.												T	3	4	71	150372598	150372598	C	T	1	0	0	0	0	1	0	0	0	13397	594	21	3		3	REPIN1	7	150372598	Missense_Mutation	SNP	C	C3N-01071_TP	79273	150372598	8973375	165	23152											
CSMD1	0	.	GRCh38	chr8	3359271	3359271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtcagagagtctcccacaCcaaagtgaaaaccaattctt	15	8	6	12	1	3	2	1	1	2	1	4	3	3	2	3	0	1	0	3	0	4	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.3188G>T	p.Gly1063Val	p.G1063V	ENST00000520002	22/71	211	180	31	237	237	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Gly924Val,ENST00000537824,;CSMD1,missense_variant,p.Gly543Val,ENST00000335551,;CSMD1,missense_variant,p.Gly1063Val,ENST00000520002,;CSMD1,missense_variant,p.Gly1063Val,ENST00000602557,;CSMD1,missense_variant,p.Gly1062Val,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Gly1063Val,ENST00000400186,;CSMD1,missense_variant,p.Gly1063Val,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	A	ENST00000520002	Transcript	missense_variant	3744/11740	3188/10698	1063/3565	G/V	gGt/gTt		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0.01)		22/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	71	3359271	3359271	C	A	1	0	0	0	0	1	0	0	0	3745	507	18	2		2	CSMD1	8	3359271	Missense_Mutation	SNP	C	C3N-01071_TP		3359271	141779365	166	23153											
PRSS55	0	.	GRCh38	chr8	10538517	10538517	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcaccccagagcctggTgagaagtggtaccaggtggg	8	7	16	10	0	1	2	0	1	1	2	1	3	1	2	4	4	3	2	4	4	2	1	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.783T>G	p.=	p.G261G	ENST00000328655	5/5	117	110	7	129	129	0	strelka-varscan-mutect	PRSS55,synonymous_variant,p.=,ENST00000328655,NM_198464.3;PRSS51,intron_variant,,ENST00000637190,;PRSS55,intron_variant,,ENST00000522210,NM_001197020.1;PRSS55,intron_variant,,ENST00000518641,;PRSS51,intron_variant,,ENST00000523024,;	G	ENST00000328655	Transcript	synonymous_variant	823/1124	783/1059	261/352	G	ggT/ggG		1		1	PRSS55	HGNC	HGNC:30824	protein_coding	YES	CCDS5976.1	ENSP00000333003	Q6UWB4		UPI0000160C84	NM_198464.3			5/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF191,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	71	10538517	10538517	T	G	1	0	0	0	0	0	0	0	1	12783	1683	59	5		5	PRSS55	8	10538517	Silent	SNP	T	C3N-01071_TP	7179246	10538517	134600119	167	23154											
NUGGC	0	.	GRCh38	chr8	28060486	28060486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagggccacgtccctaCagaagccccgctggcaggct	8	4	11	18	2	0	1	0	0	0	1	1	1	1	1	6	3	2	3	6	3	2	1	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1037G>A	p.Cys346Tyr	p.C346Y	ENST00000413272	8/19	166	150	16	185	185	0	strelka-varscan-mutect	NUGGC,missense_variant,p.Cys346Tyr,ENST00000413272,NM_001010906.1;	T	ENST00000413272	Transcript	missense_variant	1180/3887	1037/2391	346/796	C/Y	tGt/tAt		1		-1	NUGGC	HGNC	HGNC:33550	protein_coding	YES	CCDS47833.1	ENSP00000408697	Q68CJ6		UPI0000237454	NM_001010906.1	deleterious(0.02)		8/19		hmmpanther:PTHR19331,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		rs1190067544	.												T	3	4	71	28060486	28060486	C	T	1	0	0	0	0	1	0	0	0	10814	478	17	3		3	NUGGC	8	28060486	Missense_Mutation	SNP	C	C3N-01071_TP	17521969	28060486	117078150	168	23155											
TEX15	0	.	GRCh38	chr8	30845491	30845491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctcatctgagtggtctgggGaaaacagatatgcagttttt	10	14	11	6	0	3	2	1	1	3	1	4	3	3	3	0	3	2	2	0	3	3	3	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.3527C>T	p.Ser1176Phe	p.S1176F	ENST00000256246	1/4	176	161	15	107	107	0	strelka-varscan-mutect	TEX15,missense_variant,p.Ser1176Phe,ENST00000256246,NM_031271.3;TEX15,downstream_gene_variant,,ENST00000523186,;	A	ENST00000256246	Transcript	missense_variant	3602/10187	3527/8370	1176/2789	S/F	tCc/tTc		1		-1	TEX15	HGNC	HGNC:11738	protein_coding	YES	CCDS6080.1	ENSP00000256246	Q9BXT5		UPI000013CEF9	NM_031271.3	deleterious(0.02)		1/4		hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	30845491	30845491	G	A	1	0	0	0	0	1	0	0	0	16201	1174	41	3		3	TEX15	8	30845491	Missense_Mutation	SNP	G	C3N-01071_TP	2785005	30845491	114293145	169	23156											
NRG1	0	.	GRCh38	chr8	32764215	32764215	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagagtgaaacagaagAtgaaagagtaggtgaagata	19	6	13	3	0	1	8	1	3	0	5	1	9	1	8	0	1	1	1	0	1	6	2	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.1751A>G	p.Asp584Gly	p.D584G	ENST00000287842	13/13	256	228	28	294	294	0	strelka-varscan-mutect	NRG1,missense_variant,p.Asp576Gly,ENST00000356819,NM_013957.3;NRG1,missense_variant,p.Asp652Gly,ENST00000523534,;NRG1,missense_variant,p.Asp584Gly,ENST00000287842,NM_013956.3;NRG1,missense_variant,p.Asp579Gly,ENST00000405005,NM_013964.3;NRG1,missense_variant,p.Asp529Gly,ENST00000519301,NM_001160001.1;NRG1,3_prime_UTR_variant,,ENST00000539990,NM_001159996.1;NRG1,downstream_gene_variant,,ENST00000523079,NM_001160008.1,NM_001160004.1;NRG1,downstream_gene_variant,,ENST00000521670,NM_013960.3;NRG1,downstream_gene_variant,,ENST00000518104,NM_001159995.1,NM_001159999.1;	G	ENST00000287842	Transcript	missense_variant	1843/2035	1751/1938	584/645	D/G	gAt/gGt		1		1	NRG1	HGNC	HGNC:7997	protein_coding	YES	CCDS6083.1	ENSP00000287842	Q02297		UPI000013DED7	NM_013956.3	deleterious(0)		13/13		Low_complexity_(Seg):seg,hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF7,Pfam_domain:PF02158																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	32764215	32764215	A	G	1	0	0	0	0	1	0	0	0	10705	333	12	5		5	NRG1	8	32764215	Missense_Mutation	SNP	A	C3N-01071_TP	1918724	32764215	112374421	170	23157											
ADAM2	0	.	GRCh38	chr8	39821651	39821651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaatatacccttggtaGtggcagaaattctgaaagat	13	12	8	8	0	2	3	1	1	1	2	2	3	2	3	2	2	1	2	2	2	6	6	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.279C>A	p.His93Gln	p.H93Q	ENST00000265708	5/21	186	174	12	132	132	0	strelka-varscan-mutect	ADAM2,missense_variant,p.His93Gln,ENST00000265708,NM_001464.4;ADAM2,missense_variant,p.His93Gln,ENST00000347580,NM_001278113.1;ADAM2,missense_variant,p.His93Gln,ENST00000622267,;ADAM2,missense_variant,p.His93Gln,ENST00000379853,;ADAM2,missense_variant,p.His93Gln,ENST00000521880,NM_001278114.1;ADAM2,non_coding_transcript_exon_variant,,ENST00000523181,;	T	ENST00000265708	Transcript	missense_variant	383/2672	279/2208	93/735	H/Q	caC/caA		1		-1	ADAM2	HGNC	HGNC:198	protein_coding	YES	CCDS34884.1	ENSP00000265708	Q99965		UPI00001254C2	NM_001464.4	deleterious(0.01)		5/21		hmmpanther:PTHR11905:SF108,hmmpanther:PTHR11905,Pfam_domain:PF01562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	39821651	39821651	G	T	1	0	0	0	0	1	0	0	0	285	1020	36	2		2	ADAM2	8	39821651	Missense_Mutation	SNP	G	C3N-01071_TP	7057436	39821651	105316985	171	23158											
SLCO5A1	0	.	GRCh38	chr8	69761860	69761860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggccaagtgctcccAtgacatacatgatggctgag	10	8	12	11	0	0	3	0	3	0	0	1	3	1	3	2	2	3	3	2	2	2	1	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.923T>C	p.Met308Thr	p.M308T	ENST00000260126	3/10	162	149	13	178	178	0	strelka-varscan-mutect	SLCO5A1,missense_variant,p.Met308Thr,ENST00000260126,NM_030958.2;SLCO5A1,missense_variant,p.Met308Thr,ENST00000524945,NM_001146008.1;SLCO5A1,missense_variant,p.Met308Thr,ENST00000530307,NM_001146009.1;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000528658,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000532388,;SLCO5A1,intron_variant,,ENST00000526750,;	G	ENST00000260126	Transcript	missense_variant	1630/9076	923/2547	308/848	M/T	aTg/aCg		1		-1	SLCO5A1	HGNC	HGNC:19046	protein_coding	YES	CCDS6205.1	ENSP00000260126	Q9H2Y9		UPI0000140F53	NM_030958.2	tolerated(0.13)		3/10		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF91,Pfam_domain:PF03137,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00805,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		rs1450064645	.												G	3	3	71	69761860	69761860	A	G	1	0	0	0	0	1	0	0	0	15018	217	8	5		5	SLCO5A1	8	69761860	Missense_Mutation	SNP	A	C3N-01071_TP	29940209	69761860	75376776	172	23159											
ZFHX4	0	.	GRCh38	chr8	76854424	76854424	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatcagtgtacagttgcCttcccaactctggaactctg	8	13	9	11	0	3	1	1	1	2	0	4	2	4	2	2	1	4	2	2	1	3	3	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.7503C>A	p.=	p.A2501A	ENST00000521891	10/11	303	285	18	259	259	0	strelka-varscan-mutect	ZFHX4,synonymous_variant,p.=,ENST00000521891,NM_024721.4;ZFHX4,synonymous_variant,p.=,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	A	ENST00000521891	Transcript	synonymous_variant	7951/14019	7503/10851	2501/3616	A	gcC/gcA		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4			10/11		PROSITE_patterns:PS00028,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00355																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	71	76854424	76854424	C	A	1	0	0	0	0	0	0	0	1	18213	668	24	2		2	ZFHX4	8	76854424	Silent	SNP	C	C3N-01071_TP	7092564	76854424	68284212	173	23160											
ZFHX4	0	.	GRCh38	chr8	76854947	76854947	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcacagtctcataaaCggtgtccgttttgccgagcc	8	10	10	13	3	1	0	1	0	1	0	4	1	3	0	4	1	4	2	4	1	2	3			C3N-01071_TP	C3N-01071_NB	C	C																c.8026C>A	p.=	p.R2676R	ENST00000521891	10/11	184	155	29	155	155	0	strelka-varscan-mutect	ZFHX4,synonymous_variant,p.=,ENST00000521891,NM_024721.4;ZFHX4,synonymous_variant,p.=,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	A	ENST00000521891	Transcript	synonymous_variant	8474/14019	8026/10851	2676/3616	R	Cgg/Agg	COSM1101789,COSM4742569	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4			10/11		PROSITE_profiles:PS50157,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00355											1,1						LOW	1	SNV	5		1,1	1										PASS		rs1260222919	.												A	2	1	71	76854947	76854947	C	A	1	0	0	0	0	0	0	0	1	18213	527	19	1		1	ZFHX4	8	76854947	Silent	SNP	C	C3N-01071_TP	523	76854947	68283689	174	23161											
ZFHX4	0	.	GRCh38	chr8	76864133	76864133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaagcttgcacaaagaGaaaacaatcaaacaagcaat	21	5	6	9	0	2	1	2	0	0	1	2	2	2	1	0	0	5	3	0	0	8	1			C3N-01071_TP	C3N-01071_NB	G	G																c.10419G>T	p.Glu3473Asp	p.E3473D	ENST00000521891	11/11	272	242	30	275	275	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Glu3473Asp,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Glu3447Asp,ENST00000518282,;	T	ENST00000521891	Transcript	missense_variant	10867/14019	10419/10851	3473/3616	E/D	gaG/gaT	COSM751677	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0.05)		11/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00451											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	71	76864133	76864133	G	T	1	0	0	0	0	1	0	0	0	18213	933	33	2		2	ZFHX4	8	76864133	Missense_Mutation	SNP	G	C3N-01071_TP	9186	76864133	68274503	175	23162											
TMEM64	0	.	GRCh38	chr8	90645616	90645616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacgccgaccaccacgccgCcgccgccactcccggggccg	5	1	11	24	8	0	0	0	0	0	0	1	1	1	0	10	2	0	0	10	2	0	0	rs535015087		C3N-01071_TP	C3N-01071_NB	C	C																c.290G>T	p.Gly97Val	p.G97V	ENST00000458549	1/3	208	169	39	147	147	0	strelka-varscan-mutect	TMEM64,missense_variant,p.Gly97Val,ENST00000458549,NM_001008495.3;TMEM64,missense_variant,p.Gly97Val,ENST00000418210,NM_001146273.1;TMEM64,intron_variant,,ENST00000519519,;TMEM64,intron_variant,,ENST00000521852,;TMEM64,upstream_gene_variant,,ENST00000422900,;RP11-68L18.1,upstream_gene_variant,,ENST00000501194,;RP11-68L18.1,upstream_gene_variant,,ENST00000519233,;RP11-68L18.1,upstream_gene_variant,,ENST00000522132,;	A	ENST00000458549	Transcript	missense_variant	468/4997	290/1143	97/380	G/V	gGc/gTc	rs535015087	1		-1	TMEM64	HGNC	HGNC:25441	protein_coding	YES	CCDS34920.2	ENSP00000414786	Q6YI46		UPI0000DBEF28	NM_001008495.3	deleterious_low_confidence(0.01)		1/3		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs535015087	.												A	3	1	71	90645616	90645616	C	A	1	0	0	0	0	1	0	0	0	16669	739	26	2		2	TMEM64	8	90645616	Missense_Mutation	SNP	C	C3N-01071_TP	13781483	90645616	54493020	176	23163											
DCSTAMP	0	.	GRCh38	chr8	104354964	104354964	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccaaaaccaaaattccttCtatctgagacctgggttcct	11	12	5	13	0	2	1	0	1	2	1	5	2	5	1	5	1	1	1	5	1	5	4	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1117C>G	p.Leu373Val	p.L373V	ENST00000297581	3/4	332	234	98	233	233	0	strelka-varscan-mutect	DCSTAMP,missense_variant,p.Leu373Val,ENST00000297581,NM_030788.3;DCSTAMP,intron_variant,,ENST00000622554,NM_001257317.1;DCSTAMP,intron_variant,,ENST00000517991,;DPYS,intron_variant,,ENST00000521601,;DCSTAMP,intron_variant,,ENST00000518051,;DCSTAMP,upstream_gene_variant,,ENST00000520080,;	G	ENST00000297581	Transcript	missense_variant	1166/1953	1117/1413	373/470	L/V	Cta/Gta		1		1	DCSTAMP	HGNC	HGNC:18549	protein_coding	YES	CCDS6301.1	ENSP00000297581	Q9H295		UPI000003BCB5	NM_030788.3	tolerated(0.13)		3/4		Pfam_domain:PF07782,hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2																	MODERATE	1	SNV	1			1										PASS		rs970571597	.												G	3	3	71	104354964	104354964	C	G	1	0	0	0	0	1	0	0	0	4106	912	32	4		4	DCSTAMP	8	104354964	Missense_Mutation	SNP	C	C3N-01071_TP	13709348	104354964	40783672	177	23164											
ABRA	0	.	GRCh38	chr8	106761126	106761126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtccatgtttcctggcacGcatgagaatgcccactactt	9	11	8	13	1	0	1	0	1	0	1	2	2	2	1	3	1	2	3	3	1	2	3	rs747204189		C3N-01071_TP	C3N-01071_NB	G	G																c.1057C>A	p.Arg353Ser	p.R353S	ENST00000311955	2/2	345	286	59	250	250	0	strelka-varscan-mutect	ABRA,missense_variant,p.Arg353Ser,ENST00000311955,NM_139166.4;	T	ENST00000311955	Transcript	missense_variant	1112/2755	1057/1146	353/381	R/S	Cgt/Agt	rs747204189	1		-1	ABRA	HGNC	HGNC:30655	protein_coding	YES	CCDS6305.1	ENSP00000311436	Q8N0Z2		UPI000006F0DE	NM_139166.4	deleterious(0)		2/2		hmmpanther:PTHR22739,hmmpanther:PTHR22739:SF7,Pfam_domain:PF14705,SMART_domains:SM01283																	MODERATE	1	SNV	1			1										PASS		rs747204189	.												T	3	4	71	106761126	106761126	G	T	1	0	0	0	0	1	0	0	0	109	1087	38	1		1	ABRA	8	106761126	Missense_Mutation	SNP	G	C3N-01071_TP	2406162	106761126	38377510	178	23165											
PKHD1L1	0	.	GRCh38	chr8	109412399	109412399	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatatggagatattttattGtttccttataatcaggtaag	12	17	7	5	0	1	1	1	0	0	1	2	2	2	1	2	2	0	2	2	2	6	9	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.2220G>A	p.=	p.L740L	ENST00000378402	20/78	131	116	15	86	86	0	strelka-varscan-mutect	PKHD1L1,synonymous_variant,p.=,ENST00000378402,NM_177531.4;	A	ENST00000378402	Transcript	synonymous_variant	2324/13076	2220/12732	740/4243	L	ttG/ttA		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4			20/78																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	71	109412399	109412399	G	A	1	0	0	0	0	0	0	0	1	12068	1368	48	3		3	PKHD1L1	8	109412399	Silent	SNP	G	C3N-01071_TP	2651273	109412399	35726237	179	23166											
PKHD1L1	0	.	GRCh38	chr8	109429386	109429386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggctaatatgacagttaCaaggataaaggaaggtggct	17	8	12	4	0	0	1	0	1	0	0	0	3	0	3	0	5	1	3	0	5	8	4	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.3047C>T	p.Thr1016Ile	p.T1016I	ENST00000378402	26/78	234	210	24	307	307	0	strelka-mutect	PKHD1L1,missense_variant,p.Thr1016Ile,ENST00000378402,NM_177531.4;	T	ENST00000378402	Transcript	missense_variant	3151/13076	3047/12732	1016/4243	T/I	aCa/aTa		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	tolerated(0.07)		26/78																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	109429386	109429386	C	T	1	0	0	0	0	1	0	0	0	12068	478	17	3		3	PKHD1L1	8	109429386	Missense_Mutation	SNP	C	C3N-01071_TP	16987	109429386	35709250	180	23167											
PKHD1L1	0	.	GRCh38	chr8	109449377	109449377	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccatgactgtgacaggcaCcggatttaatccacaaaatt	15	9	7	10	1	0	2	0	2	0	0	1	3	1	3	3	2	1	1	3	2	4	3	rs780741007		C3N-01071_TP	C3N-01071_NB	C	C																c.6065C>A	p.Thr2022Asn	p.T2022N	ENST00000378402	40/78	233	205	28	149	149	0	strelka-varscan-mutect	PKHD1L1,missense_variant,p.Thr2022Asn,ENST00000378402,NM_177531.4;	A	ENST00000378402	Transcript	missense_variant	6169/13076	6065/12732	2022/4243	T/N	aCc/aAc	rs780741007	1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	deleterious(0.04)		40/78		Gene3D:2.60.40.10,Pfam_domain:PF01833,Low_complexity_(Seg):seg,SMART_domains:SM00429,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		rs780741007	.												A	3	1	71	109449377	109449377	C	A	1	0	0	0	0	1	0	0	0	12068	507	18	2		2	PKHD1L1	8	109449377	Missense_Mutation	SNP	C	C3N-01071_TP	19991	109449377	35689259	181	23168											
CSMD3	0	.	GRCh38	chr8	112314023	112314023	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaataatccccactgagggAaataagcactggactttgaa	15	9	9	8	0	0	3	0	3	0	0	1	5	1	5	2	2	1	1	2	2	5	3	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.7579T>A	p.Ser2527Thr	p.S2527T	ENST00000297405	49/71	418	335	83	301	301	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Ser2527Thr,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Ser2487Thr,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Ser2423Thr,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Ser1797Thr,ENST00000339701,;CSMD3,non_coding_transcript_exon_variant,,ENST00000492692,;	T	ENST00000297405	Transcript	missense_variant	7824/13212	7579/11124	2527/3707	S/T	Tcc/Acc		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	tolerated(0.29)		49/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	112314023	112314023	A	T	1	0	0	0	0	1	0	0	0	3747	246	9	4		4	CSMD3	8	112314023	Missense_Mutation	SNP	A	C3N-01071_TP	2864646	112314023	32824613	182	23169											
CSMD3	0	.	GRCh38	chr8	112689910	112689910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccattggttattctcttGacaaacaatggatttctctc	11	15	6	9	0	2	2	0	1	2	1	5	3	2	3	1	2	1	1	1	2	3	5	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.2113C>G	p.Gln705Glu	p.Q705E	ENST00000297405	14/71	226	180	46	200	200	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Gln705Glu,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Gln665Glu,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Gln601Glu,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Gln45Glu,ENST00000339701,;	C	ENST00000297405	Transcript	missense_variant	2358/13212	2113/11124	705/3707	Q/E	Caa/Gaa		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0.02)		14/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	71	112689910	112689910	G	C	1	0	0	0	0	1	0	0	0	3747	1299	45	4		4	CSMD3	8	112689910	Missense_Mutation	SNP	G	C3N-01071_TP	375887	112689910	32448726	183	23170											
TRPS1	0	.	GRCh38	chr8	115619647	115619647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagggggtgcaggccatatCttgagggtcatctgcctctg	6	11	15	9	0	4	2	1	2	3	0	4	2	4	2	2	4	2	1	2	4	1	2			C3N-01071_TP	C3N-01071_NB	C	C																c.451G>A	p.Asp151Asn	p.D151N	ENST00000395715	3/7	237	222	15	174	174	0	strelka-varscan-mutect	TRPS1,missense_variant,p.Asp151Asn,ENST00000395715,NM_014112.4,NM_001282903.2;TRPS1,missense_variant,p.Asp138Asn,ENST00000220888,;TRPS1,missense_variant,p.Asp142Asn,ENST00000520276,NM_001282902.2;TRPS1,missense_variant,p.Asp92Asn,ENST00000519076,;TRPS1,missense_variant,p.Asp138Asn,ENST00000519674,;TRPS1,missense_variant,p.Asp142Asn,ENST00000517323,;TRPS1,downstream_gene_variant,,ENST00000519815,;TRPS1,downstream_gene_variant,,ENST00000395713,;TRPS1,downstream_gene_variant,,ENST00000422939,;TRPS1,downstream_gene_variant,,ENST00000451156,;	T	ENST00000395715	Transcript	missense_variant	1029/9990	451/3885	151/1294	D/N	Gat/Aat	COSM748535,COSM748536	1		-1	TRPS1	HGNC	HGNC:12340	protein_coding	YES	CCDS6318.2	ENSP00000379065	Q9UHF7		UPI00002104B8	NM_014112.4,NM_001282903.2	deleterious_low_confidence(0.01)		3/7													1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	71	115619647	115619647	C	T	1	0	0	0	0	1	0	0	0	17099	913	32	3		3	TRPS1	8	115619647	Missense_Mutation	SNP	C	C3N-01071_TP	2929737	115619647	29518989	184	23171											
WDYHV1	0	.	GRCh38	chr8	123430011	123430011	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaacaacaggcgagacCtggagatggacctgtgatct	12	7	13	9	1	1	3	0	1	1	2	1	7	1	5	2	4	2	0	2	4	2	0	rs200183331		C3N-01071_TP	C3N-01071_NB	C	C																c.212C>G	p.Pro71Arg	p.P71R	ENST00000287387	3/6	211	193	18	195	195	0	strelka-varscan-mutect	WDYHV1,missense_variant,p.Pro11Arg,ENST00000523984,NM_001283024.1,NM_001283027.1;WDYHV1,missense_variant,p.Pro71Arg,ENST00000287387,NM_018024.2;WDYHV1,missense_variant,p.Pro71Arg,ENST00000523356,;WDYHV1,missense_variant,p.Pro71Arg,ENST00000522194,;WDYHV1,5_prime_UTR_variant,,ENST00000518125,;WDYHV1,non_coding_transcript_exon_variant,,ENST00000517609,;WDYHV1,non_coding_transcript_exon_variant,,ENST00000523551,;WDYHV1,non_coding_transcript_exon_variant,,ENST00000524254,;WDYHV1,3_prime_UTR_variant,,ENST00000519199,;	G	ENST00000287387	Transcript	missense_variant	337/1349	212/618	71/205	P/R	cCt/cGt	rs200183331	1		1	WDYHV1	HGNC	HGNC:25490	protein_coding	YES	CCDS6344.1	ENSP00000287387	Q96HA8		UPI0000073310	NM_018024.2	tolerated(0.64)		3/6		Gene3D:3c9qA00,Pfam_domain:PF09764,hmmpanther:PTHR13035,hmmpanther:PTHR13035:SF0																	MODERATE	1	SNV	1			1										PASS		rs200183331	.												G	3	3	71	123430011	123430011	C	G	1	0	0	0	0	1	0	0	0	17900	681	24	4		4	WDYHV1	8	123430011	Missense_Mutation	SNP	C	C3N-01071_TP	7810364	123430011	21708625	185	23172											
KCNQ3	0	.	GRCh38	chr8	132184262	132184262	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatgcacaggggcttccTggcaaacttcagtcggcccc	9	7	10	15	1	1	0	1	0	0	0	3	0	2	0	3	4	3	3	3	4	2	2	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.583A>T	p.Arg195Trp	p.R195W	ENST00000388996	3/15	650	500	150	534	534	0	strelka-varscan-mutect	KCNQ3,missense_variant,p.Arg195Trp,ENST00000388996,NM_004519.3;KCNQ3,missense_variant,p.Arg74Trp,ENST00000621976,;KCNQ3,missense_variant,p.Arg195Trp,ENST00000519445,;KCNQ3,missense_variant,p.Arg75Trp,ENST00000521134,NM_001204824.1;KCNQ3,non_coding_transcript_exon_variant,,ENST00000519589,;	A	ENST00000388996	Transcript	missense_variant	1004/11441	583/2619	195/872	R/W	Agg/Tgg		1		-1	KCNQ3	HGNC	HGNC:6297	protein_coding	YES	CCDS34943.1	ENSP00000373648	O43525		UPI00001279F0	NM_004519.3	deleterious(0)		3/15		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR01459,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF5,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	132184262	132184262	T	A	1	0	0	0	0	1	0	0	0	8000	1579	55	4		4	KCNQ3	8	132184262	Missense_Mutation	SNP	T	C3N-01071_TP	8754251	132184262	12954374	186	23173											
TMEM71	0	.	GRCh38	chr8	132757241	132757241	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccatagtataccttgggaAaatgcacgtgggagacagct	12	8	11	10	1	0	1	0	0	0	1	0	3	0	2	3	2	3	3	3	2	5	4	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.94T>C	p.Phe32Leu	p.F32L	ENST00000356838	3/10	242	228	14	223	223	0	strelka-varscan-mutect	TMEM71,missense_variant,p.Phe32Leu,ENST00000356838,NM_144649.2;TMEM71,missense_variant,p.Phe32Leu,ENST00000523829,;TMEM71,missense_variant,p.Phe32Leu,ENST00000377901,NM_001145153.1;TMEM71,missense_variant,p.Phe32Leu,ENST00000519187,;TMEM71,missense_variant,p.Phe32Leu,ENST00000519304,;TMEM71,5_prime_UTR_variant,,ENST00000522334,;TMEM71,intron_variant,,ENST00000519016,;TMEM71,non_coding_transcript_exon_variant,,ENST00000517538,;TMEM71,downstream_gene_variant,,ENST00000522594,;	G	ENST00000356838	Transcript	missense_variant	237/1993	94/831	32/276	F/L	Ttc/Ctc		1		-1	TMEM71	HGNC	HGNC:26572	protein_coding	YES	CCDS6366.1	ENSP00000349296	Q6P5X7		UPI000013E44E	NM_144649.2	tolerated(0.11)		3/10		Pfam_domain:PF15121,hmmpanther:PTHR35255,hmmpanther:PTHR35255:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	132757241	132757241	A	G	1	0	0	0	0	1	0	0	0	16675	14	1	5		5	TMEM71	8	132757241	Missense_Mutation	SNP	A	C3N-01071_TP	572979	132757241	12381395	187	23174											
COL22A1	0	.	GRCh38	chr8	138589387	138589387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtcctgtctccccttgagGgccagggatcccaggaagtc	6	9	13	13	0	1	1	0	1	1	0	5	3	3	3	5	4	0	0	5	4	1	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.4747C>T	p.Pro1583Ser	p.P1583S	ENST00000303045	65/65	100	75	25	126	126	0	strelka-varscan-mutect	COL22A1,missense_variant,p.Pro1583Ser,ENST00000303045,NM_152888.2;COL22A1,missense_variant,p.Pro1276Ser,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;	A	ENST00000303045	Transcript	missense_variant	5194/6346	4747/4881	1583/1626	P/S	Cct/Tct		1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2	tolerated(0.13)		65/65																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	138589387	138589387	G	A	1	0	0	0	0	1	0	0	0	3469	1232	43	3		3	COL22A1	8	138589387	Missense_Mutation	SNP	G	C3N-01071_TP	5832146	138589387	6549249	188	23175											
WASH1	0	.	GRCh38	chr9	24937	24937	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcgccgcaggtctggCtggatgaagggcacggcata	7	8	14	12	3	2	1	0	1	2	0	4	2	3	2	2	5	0	4	2	5	2	1	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.63G>A	p.=	p.Q21Q	ENST00000442898	2/11	226	214	12	211	210	1	varscan-mutect	WASH1,synonymous_variant,p.=,ENST00000442898,NM_182905.4;MIR1302-9,upstream_gene_variant,,ENST00000422679,;	T	ENST00000442898	Transcript	synonymous_variant	206/1827	63/1398	21/465	Q	caG/caA		1		-1	WASH1	HGNC	HGNC:24361	protein_coding	YES	CCDS78375.1	ENSP00000485627	A8K0Z3		UPI0000251DC1	NM_182905.4			2/11		Pfam_domain:PF11945,hmmpanther:PTHR23331,hmmpanther:PTHR23331:SF1																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	71	24937	24937	C	T	1	0	0	0	0	0	0	0	1	17815	796	28	3		3	WASH1	9	24937	Silent	SNP	C	C3N-01071_TP		24937	138369780	189	23176											
LINGO2	0	.	GRCh38	chr9	27950345	27950345	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgattgccttttaggcggagGgaacgcaggttaaagagatt	11	10	14	6	3	0	1	0	0	0	1	0	5	0	3	1	4	2	2	1	4	4	5			C3N-01071_TP	C3N-01071_NB	G	G																c.327C>A	p.=	p.S109S	ENST00000379992	6/6	137	128	9	219	219	0	strelka-varscan-mutect	LINGO2,synonymous_variant,p.=,ENST00000379992,NM_152570.2,NM_001258282.1;LINGO2,synonymous_variant,p.=,ENST00000308675,;LINGO2,synonymous_variant,p.=,ENST00000613945,;	T	ENST00000379992	Transcript	synonymous_variant	777/3044	327/1821	109/606	S	tcC/tcA	COSM1489923,COSM1489924	1		-1	LINGO2	HGNC	HGNC:21207	protein_coding	YES	CCDS6524.1	ENSP00000369328	Q7L985		UPI000004C7CD	NM_152570.2,NM_001258282.1			6/6		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF38,Low_complexity_(Seg):seg,SMART_domains:SM00369,Superfamily_domains:SSF52058											1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												T	2	4	71	27950345	27950345	G	T	1	0	0	0	0	0	0	0	1	8736	1219	43	2		2	LINGO2	9	27950345	Silent	SNP	G	C3N-01071_TP	27925408	27950345	110444372	190	23177											
GOLM1	0	.	GRCh38	chr9	86033315	86033315	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcattccctgccagggctgCttgcttgtctgtctcagatt	4	15	10	12	0	3	1	2	0	2	1	5	1	4	1	2	1	3	3	2	1	0	4	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1096G>T	p.Ala366Ser	p.A366S	ENST00000388712	9/10	234	214	20	232	231	1	strelka-varscan-mutect	GOLM1,missense_variant,p.Ala366Ser,ENST00000388712,NM_016548.3;GOLM1,missense_variant,p.Ala366Ser,ENST00000388711,NM_177937.2;GOLM1,downstream_gene_variant,,ENST00000257504,;GOLM1,downstream_gene_variant,,ENST00000464314,;	A	ENST00000388712	Transcript	missense_variant	1265/3046	1096/1206	366/401	A/S	Gca/Tca		1		-1	GOLM1	HGNC	HGNC:15451	protein_coding	YES	CCDS35054.1	ENSP00000373364	Q8NBJ4	B3KNK9	UPI000003B10E	NM_016548.3	deleterious(0)		9/10		hmmpanther:PTHR15896,hmmpanther:PTHR15896:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	86033315	86033315	C	A	1	0	0	0	0	1	0	0	0	6461	797	28	2		2	GOLM1	9	86033315	Missense_Mutation	SNP	C	C3N-01071_TP	58082970	86033315	52361402	191	23178											
SHC3	0	.	GRCh38	chr9	89046978	89046978	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcttccgtccatggctCatccagactctgcattctgt	5	14	6	16	1	4	1	1	0	3	1	8	1	8	1	4	1	1	2	4	1	0	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.979G>T	p.Glu327Ter	p.E327*	ENST00000375835	8/12	81	59	22	84	84	0	strelka-varscan-mutect	SHC3,stop_gained,p.Glu327Ter,ENST00000375835,NM_016848.5;SHC3,upstream_gene_variant,,ENST00000375831,;	A	ENST00000375835	Transcript	stop_gained	1286/9768	979/1785	327/594	E/*	Gag/Tag		1		-1	SHC3	HGNC	HGNC:18181	protein_coding	YES	CCDS6681.1	ENSP00000364995	Q92529		UPI0000073E1F	NM_016848.5			8/12		hmmpanther:PTHR10337:SF4,hmmpanther:PTHR10337																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	71	89046978	89046978	C	A	1	0	0	0	0	0	1	0	0	14531	835	29	2		2	SHC3	9	89046978	Nonsense_Mutation	SNP	C	C3N-01071_TP	3013663	89046978	49347739	192	23179											
SEMA4D	0	.	GRCh38	chr9	89389018	89389018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggaggtccatttcttCtgcaaggtcctcaggccgcc	8	9	12	12	1	3	0	1	0	2	0	5	2	5	2	4	5	1	1	4	5	2	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.804G>T	p.Gln268His	p.Q268H	ENST00000450295	10/16	153	137	16	183	183	0	strelka-mutect	SEMA4D,missense_variant,p.Gln268His,ENST00000450295,;SEMA4D,missense_variant,p.Gln268His,ENST00000438547,NM_006378.3;SEMA4D,missense_variant,p.Gln268His,ENST00000356444,;SEMA4D,missense_variant,p.Gln268His,ENST00000422704,;SEMA4D,missense_variant,p.Gln268His,ENST00000420987,NM_001142287.1;SEMA4D,missense_variant,p.Gln268His,ENST00000339861,;SEMA4D,missense_variant,p.Gln268His,ENST00000455551,;SEMA4D,downstream_gene_variant,,ENST00000420681,;SEMA4D,missense_variant,p.Gln268His,ENST00000429836,;SEMA4D,missense_variant,p.Gln268His,ENST00000537934,;SEMA4D,upstream_gene_variant,,ENST00000544513,;SEMA4D,upstream_gene_variant,,ENST00000474258,;	A	ENST00000450295	Transcript	missense_variant	1581/5684	804/2589	268/862	Q/H	caG/caT		1		-1	SEMA4D	HGNC	HGNC:10732	protein_coding	YES	CCDS6685.1	ENSP00000416523	Q92854		UPI0000135A6C		deleterious(0)		10/16		PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF18,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	89389018	89389018	C	A	1	0	0	0	0	1	0	0	0	14310	912	32	2		2	SEMA4D	9	89389018	Missense_Mutation	SNP	C	C3N-01071_TP	342040	89389018	49005699	193	23180											
GADD45G	0	.	GRCh38	chr9	89605992	89605992	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaacgaggacgcctggaaGgatcccgccttggagaagct	10	5	13	13	3	0	1	0	0	0	1	1	6	1	4	4	4	2	1	4	4	3	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.393G>A	p.=	p.K131K	ENST00000252506	4/4	250	230	20	196	196	0	strelka-varscan-mutect	GADD45G,synonymous_variant,p.=,ENST00000252506,NM_006705.3;GADD45G,synonymous_variant,p.=,ENST00000375769,;GADD45G,non_coding_transcript_exon_variant,,ENST00000494726,;	A	ENST00000252506	Transcript	synonymous_variant	502/1065	393/480	131/159	K	aaG/aaA		1		1	GADD45G	HGNC	HGNC:4097	protein_coding	YES	CCDS6686.1	ENSP00000252506	O95257		UPI000012AEF1	NM_006705.3			4/4		hmmpanther:PTHR10411,hmmpanther:PTHR10411:SF4																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	71	89605992	89605992	G	A	1	0	0	0	0	0	0	0	1	6054	991	35	3		3	GADD45G	9	89605992	Silent	SNP	G	C3N-01071_TP	216974	89605992	48788725	194	23181											
ZBTB26	0	.	GRCh38	chr9	122919651	122919651	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagttccatctcagggAattccagcacaccactataa	13	10	5	13	0	1	0	1	0	1	0	4	1	3	1	4	1	2	2	4	1	4	5	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.284T>G	p.Phe95Cys	p.F95C	ENST00000373656	2/2	181	156	25	179	179	0	strelka-varscan-mutect	ZBTB26,missense_variant,p.Phe95Cys,ENST00000373656,NM_001304363.1,NM_020924.3;ZBTB26,missense_variant,p.Phe95Cys,ENST00000373654,NM_001304364.1;	C	ENST00000373656	Transcript	missense_variant	358/4443	284/1326	95/441	F/C	tTc/tGc		1		-1	ZBTB26	HGNC	HGNC:23383	protein_coding	YES	CCDS6847.1	ENSP00000362760	Q9HCK0		UPI0000126991	NM_001304363.1,NM_020924.3	deleterious(0)		2/2		PROSITE_profiles:PS50097,hmmpanther:PTHR19303:SF259,hmmpanther:PTHR19303,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	71	122919651	122919651	A	C	1	0	0	0	0	1	0	0	0	18102	246	9	5		5	ZBTB26	9	122919651	Missense_Mutation	SNP	A	C3N-01071_TP	33313659	122919651	15475066	195	23182											
CRB2	0	.	GRCh38	chr9	123362927	123362927	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcgctccagggaccgagTgccaggctaccgagagtggt	7	6	16	12	4	0	1	0	0	0	1	1	4	1	2	4	3	3	2	4	3	1	1	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.157T>A	p.Cys53Ser	p.C53S	ENST00000373631	2/13	141	124	17	83	82	1	strelka-varscan-mutect	CRB2,missense_variant,p.Cys53Ser,ENST00000373631,NM_173689.6;CRB2,missense_variant,p.Cys53Ser,ENST00000359999,;	A	ENST00000373631	Transcript	missense_variant	158/5550	157/3858	53/1285	C/S	Tgc/Agc		1		1	CRB2	HGNC	HGNC:18688	protein_coding	YES	CCDS6852.2	ENSP00000362734	Q5IJ48		UPI000022D9DE	NM_173689.6	deleterious(0)		2/13		hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	123362927	123362927	T	A	1	0	0	0	0	1	0	0	0	3649	1696	59	4		4	CRB2	9	123362927	Missense_Mutation	SNP	T	C3N-01071_TP	443276	123362927	15031790	196	23183											
LMX1B	0	.	GRCh38	chr9	126690857	126690857	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcgcggccaagtgcagCggctgcatggagaagatcgc	8	7	14	12	4	1	2	0	0	1	2	3	3	1	2	1	3	3	3	1	3	2	1	rs772070765		C3N-01071_TP	C3N-01071_NB	C	C																c.348C>A	p.Ser116Arg	p.S116R	ENST00000355497	3/8	292	249	43	238	238	0	strelka-varscan-mutect	LMX1B,missense_variant,p.Ser116Arg,ENST00000355497,NM_001174146.1;LMX1B,missense_variant,p.Ser116Arg,ENST00000373474,NM_001174147.1;LMX1B,missense_variant,p.Ser93Arg,ENST00000561065,;LMX1B,missense_variant,p.Ser116Arg,ENST00000526117,NM_002316.3;	A	ENST00000355497	Transcript	missense_variant	355/5809	348/1221	116/406	S/R	agC/agA	rs772070765	1		1	LMX1B	HGNC	HGNC:6654	protein_coding	YES	CCDS55343.1	ENSP00000347684	O60663		UPI0001CE94D0	NM_001174146.1	deleterious(0.05)		3/8		Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_patterns:PS00478,PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF96,SMART_domains:SM00132,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		rs772070765	.												A	3	1	71	126690857	126690857	C	A	1	0	0	0	0	1	0	0	0	8789	767	27	1		1	LMX1B	9	126690857	Missense_Mutation	SNP	C	C3N-01071_TP	3327930	126690857	11703860	197	23184											
C9orf69	0	.	GRCh38	chr9	136116878	136116878	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggaaggagcgcacccgcCgcggaatgggcatgaccggc	8	3	17	13	6	0	1	0	1	0	0	0	4	0	4	3	5	1	2	3	5	2	0	rs756312560		C3N-01071_TP	C3N-01071_NB	C	C																c.23G>T	p.Arg8Leu	p.R8L	ENST00000418388	2/2	174	155	19	160	160	0	strelka-varscan-mutect	C9orf69,missense_variant,p.Arg8Leu,ENST00000418388,NM_152833.2;C9orf69,missense_variant,p.Arg8Leu,ENST00000561457,NM_001256526.1;C9orf69,missense_variant,p.Arg8Leu,ENST00000447934,;C9orf69,missense_variant,p.Arg8Leu,ENST00000448040,;C9orf69,missense_variant,p.Arg8Leu,ENST00000557985,;	A	ENST00000418388	Transcript	missense_variant	526/2823	23/420	8/139	R/L	cGg/cTg	rs756312560	1		-1	C9orf69	HGNC	HGNC:31009	protein_coding	YES	CCDS59155.1	ENSP00000453019	H0YL14		UPI0000210F31	NM_152833.2	tolerated(0.23)		2/2		hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF59																	MODERATE	1	SNV	1			1										PASS		rs756312560	.												A	3	1	71	136116878	136116878	C	A	1	0	0	0	0	1	0	0	0	2189	652	23	1		1	C9orf69	9	136116878	Missense_Mutation	SNP	C	C3N-01071_TP	9426021	136116878	2277839	198	23185											
OLAH	0	.	GRCh38	chr10	15064488	15064488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatttatttttgtcaagtGcaactcctgtacatgtaagt	10	17	7	7	0	1	0	1	0	0	0	2	0	2	0	1	0	4	4	1	0	5	6	rs77356311		C3N-01071_TP	C3N-01071_NB	G	G																c.547G>T	p.Ala183Ser	p.A183S	ENST00000378217	6/9	93	87	6	113	113	0	strelka-varscan-mutect	OLAH,missense_variant,p.Ala183Ser,ENST00000378217,NM_018324.2;OLAH,missense_variant,p.Ala130Ser,ENST00000378228,NM_001039702.2;OLAH,missense_variant,p.Ala130Ser,ENST00000429028,;OLAH,missense_variant,p.Ala130Ser,ENST00000428897,;OLAH,downstream_gene_variant,,ENST00000378225,;OLAH,non_coding_transcript_exon_variant,,ENST00000493912,;OLAH,upstream_gene_variant,,ENST00000485251,;	T	ENST00000378217	Transcript	missense_variant	734/1767	547/957	183/318	A/S	Gca/Tca	rs77356311	1		1	OLAH	HGNC	HGNC:25625	protein_coding	YES	CCDS7106.1	ENSP00000367462	Q9NV23		UPI000007139E	NM_018324.2	tolerated(0.08)		6/9		Gene3D:3.40.50.1820,Pfam_domain:PF00975,hmmpanther:PTHR11487,Superfamily_domains:SSF53474																	MODERATE	1	SNV	2			1										PASS		rs77356311	.												T	3	4	71	15064488	15064488	G	T	1	0	0	0	0	1	0	0	0	10926	1319	46	2		2	OLAH	10	15064488	Missense_Mutation	SNP	G	C3N-01071_TP		15064488	118732934	199	23186											
NRP1	0	.	GRCh38	chr10	33256376	33256376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccttcttttgctatcgCgctgtcggtgtaaaaaacca	11	12	8	10	3	1	0	0	0	1	0	3	1	1	0	2	1	3	3	2	1	5	5	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.754G>T	p.Ala252Ser	p.A252S	ENST00000265371	6/18	321	287	34	273	273	0	strelka-mutect	NRP1,missense_variant,p.Ala252Ser,ENST00000265371,;NRP1,missense_variant,p.Ala252Ser,ENST00000374867,NM_003873.5,NM_001244973.1,NM_001244972.1;NRP1,missense_variant,p.Ala252Ser,ENST00000395995,;NRP1,missense_variant,p.Ala71Ser,ENST00000374875,;NRP1,missense_variant,p.Ala252Ser,ENST00000432372,;NRP1,missense_variant,p.Ala252Ser,ENST00000374823,;NRP1,missense_variant,p.Ala252Ser,ENST00000374816,;NRP1,missense_variant,p.Ala252Ser,ENST00000374822,NM_001024628.2;NRP1,missense_variant,p.Ala252Ser,ENST00000374821,NM_001024629.2;NRP1,missense_variant,p.Ala53Ser,ENST00000455749,;	A	ENST00000265371	Transcript	missense_variant	1280/5882	754/2772	252/923	A/S	Gcg/Tcg		1		-1	NRP1	HGNC	HGNC:8004	protein_coding	YES	CCDS7177.1	ENSP00000265371	O14786		UPI000013D60A		deleterious(0)		6/18		Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF036960,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF654,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	5			1										PASS		rs1300083541	.												A	3	1	71	33256376	33256376	C	A	1	0	0	0	0	1	0	0	0	10718	768	27	1		1	NRP1	10	33256376	Missense_Mutation	SNP	C	C3N-01071_TP	18191888	33256376	100541046	200	23187											
CTNNA3	0	.	GRCh38	chr10	66379228	66379228	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaactgtccatttcaccCgtgacgatgtgagcaactct	9	12	8	12	3	2	2	1	2	1	0	4	3	3	2	2	0	3	2	2	0	2	2	rs577330671		C3N-01071_TP	C3N-01071_NB	C	C																c.1656G>T	p.=	p.T552T	ENST00000433211	12/18	444	390	54	506	506	0	strelka-varscan-mutect	CTNNA3,synonymous_variant,p.=,ENST00000433211,NM_001127384.2,NM_013266.3;	A	ENST00000433211	Transcript	synonymous_variant	1831/10675	1656/2688	552/895	T	acG/acT	rs577330671,COSM343878,COSM343879	1		-1	CTNNA3	HGNC	HGNC:2511	protein_coding	YES	CCDS7269.1	ENSP00000389714	Q9UI47		UPI000004A0E6	NM_001127384.2,NM_013266.3			12/18		hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF21,Gene3D:1.20.120.230,Pfam_domain:PF01044,Superfamily_domains:SSF47220											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs577330671	.												A	2	1	71	66379228	66379228	C	A	1	0	0	0	0	0	0	0	1	3823	639	23	1		1	CTNNA3	10	66379228	Silent	SNP	C	C3N-01071_TP	33122852	66379228	67418194	201	23188											
DLG5	0	.	GRCh38	chr10	77829421	77829421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccagggacttcctccgccGcacgaccatgttgatggccc	7	7	10	17	3	0	1	0	1	0	0	2	3	2	2	6	2	0	2	6	2	0	2			C3N-01071_TP	C3N-01071_NB	G	G																c.2119C>T	p.Arg707Trp	p.R707W	ENST00000372391	12/32	214	201	13	220	220	0	strelka-varscan-mutect	DLG5,missense_variant,p.Arg707Trp,ENST00000372391,NM_004747.3;DLG5,missense_variant,p.Arg8Trp,ENST00000424842,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;DLG5,upstream_gene_variant,,ENST00000466198,;	A	ENST00000372391	Transcript	missense_variant	2125/7415	2119/5760	707/1919	R/W	Cgg/Tgg	COSM3686882	1		-1	DLG5	HGNC	HGNC:2904	protein_coding	YES	CCDS7353.2	ENSP00000361467	Q8TDM6		UPI0000470041	NM_004747.3	deleterious(0)		12/32		PROSITE_profiles:PS50106,PROSITE_profiles:PS50106,hmmpanther:PTHR13865:SF31,hmmpanther:PTHR13865,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156											1						MODERATE	1	SNV	1		1	1										PASS		rs1488016884	.												A	3	1	71	77829421	77829421	G	A	1	0	0	0	0	1	0	0	0	4365	1086	38	1		1	DLG5	10	77829421	Missense_Mutation	SNP	G	C3N-01071_TP	11450193	77829421	55968001	202	23189											
CPN1	0	.	GRCh38	chr10	100076042	100076042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaactccgacagctgcaGcatcagctcgcggcccaacg	11	4	10	16	4	1	1	1	0	0	1	3	2	2	1	2	1	6	4	2	1	2	0			C3N-01071_TP	C3N-01071_NB	G	G																c.289C>A	p.Leu97Met	p.L97M	ENST00000370418	2/9	463	436	27	384	384	0	strelka-varscan-mutect	CPN1,missense_variant,p.Leu97Met,ENST00000370418,NM_001308.2;	T	ENST00000370418	Transcript	missense_variant	541/1863	289/1377	97/458	L/M	Ctg/Atg	COSM913872	1		-1	CPN1	HGNC	HGNC:2312	protein_coding	YES	CCDS7486.1	ENSP00000359446	P15169		UPI00000012AC	NM_001308.2	deleterious(0)		2/9		hmmpanther:PTHR11532:SF7,hmmpanther:PTHR11532,PROSITE_patterns:PS00132,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	71	100076042	100076042	G	T	1	0	0	0	0	1	0	0	0	3604	962	34	2		2	CPN1	10	100076042	Missense_Mutation	SNP	G	C3N-01071_TP	22246621	100076042	33721380	203	23190											
SORCS3	0	.	GRCh38	chr10	105214479	105214479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaactgcacagatgggCtaagggagaagtacaccgcc	14	4	11	12	1	0	2	0	0	0	2	0	3	0	2	3	2	4	3	3	2	5	2			C3N-01071_TP	C3N-01071_NB	C	C																c.2413C>A	p.Leu805Ile	p.L805I	ENST00000369701	18/27	159	147	12	267	267	0	strelka-varscan-mutect	SORCS3,missense_variant,p.Leu805Ile,ENST00000369701,NM_014978.2;SORCS3,missense_variant,p.Leu805Ile,ENST00000369699,;SORCS3,downstream_gene_variant,,ENST00000393176,;	A	ENST00000369701	Transcript	missense_variant	2640/5757	2413/3669	805/1222	L/I	Cta/Ata	COSM1504103,COSM3748492	1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2	deleterious(0.03)		18/27		Pfam_domain:PF15901,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,SMART_domains:SM00602,Superfamily_domains:SSF49299											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	71	105214479	105214479	C	A	1	0	0	0	0	1	0	0	0	15254	796	28	2		2	SORCS3	10	105214479	Missense_Mutation	SNP	C	C3N-01071_TP	5138437	105214479	28582943	204	23191											
PDCD4	0	.	GRCh38	chr10	110889563	110889563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttattgctagagctgttGgagatggaattttatgtaat	11	17	11	2	0	0	2	0	0	0	2	0	4	0	3	0	2	2	5	0	2	5	8	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.808G>A	p.Gly270Arg	p.G270R	ENST00000280154	7/12	198	173	25	248	248	0	strelka-varscan-mutect	PDCD4,missense_variant,p.Gly259Arg,ENST00000393104,NM_145341.3;PDCD4,missense_variant,p.Gly270Arg,ENST00000280154,NM_014456.4,NM_001199492.1;PDCD4,downstream_gene_variant,,ENST00000444997,;PDCD4,non_coding_transcript_exon_variant,,ENST00000481353,;PDCD4,non_coding_transcript_exon_variant,,ENST00000489049,;PDCD4,non_coding_transcript_exon_variant,,ENST00000483595,;PDCD4,intron_variant,,ENST00000462577,;PDCD4,upstream_gene_variant,,ENST00000498367,;PDCD4,downstream_gene_variant,,ENST00000492932,;PDCD4,downstream_gene_variant,,ENST00000483670,;PDCD4,downstream_gene_variant,,ENST00000467574,;	A	ENST00000280154	Transcript	missense_variant	1082/3602	808/1410	270/469	G/R	Gga/Aga		1		1	PDCD4	HGNC	HGNC:8763	protein_coding	YES	CCDS7567.1	ENSP00000280154	Q53EL6		UPI000013FD3F	NM_014456.4,NM_001199492.1	deleterious(0.02)		7/12		PROSITE_profiles:PS51366,hmmpanther:PTHR12626:SF3,hmmpanther:PTHR12626,Gene3D:1.25.40.180,Pfam_domain:PF02847,SMART_domains:SM00544,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	110889563	110889563	G	A	1	0	0	0	0	1	0	0	0	11709	1349	47	3		3	PDCD4	10	110889563	Missense_Mutation	SNP	G	C3N-01071_TP	5675084	110889563	22907859	205	23192											
CCDC186	0	.	GRCh38	chr10	114131271	114131271	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acttctgtttgtctacaagcGagttcagcttgcagagtttg	8	15	10	8	1	3	1	1	0	2	1	3	2	3	1	0	0	4	5	0	0	2	6	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.1977C>G	p.=	p.L659L	ENST00000369287	12/16	94	86	8	158	158	0	strelka-mutect	CCDC186,synonymous_variant,p.=,ENST00000369287,NM_001321829.1,NM_018017.2;CCDC186,synonymous_variant,p.=,ENST00000428953,;CCDC186,non_coding_transcript_exon_variant,,ENST00000497592,;CCDC186,non_coding_transcript_exon_variant,,ENST00000490661,;	C	ENST00000369287	Transcript	synonymous_variant	2244/7245	1977/2697	659/898	L	ctC/ctG		1		-1	CCDC186	HGNC	HGNC:24349	protein_coding	YES	CCDS7587.1	ENSP00000358293	Q7Z3E2		UPI00001D3EF5	NM_001321829.1,NM_018017.2			12/16		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18911																	LOW	1	SNV	1			1										PASS		rs1481071537	.												C	2	2	71	114131271	114131271	G	C	1	0	0	0	0	0	0	0	1	2502	1045	37	4		4	CCDC186	10	114131271	Silent	SNP	G	C3N-01071_TP	3241708	114131271	19666151	206	23193											
TACC2	0	.	GRCh38	chr10	122083271	122083271	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcccctgctgcagcccaGcagggcacagaaagctcagc	10	3	13	15	0	1	1	1	0	0	1	1	2	1	1	3	2	6	5	3	2	1	0	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.771G>A	p.=	p.Q257Q	ENST00000369005	4/23	175	165	10	172	172	0	strelka-varscan-mutect	TACC2,synonymous_variant,p.=,ENST00000369005,NM_206862.3;TACC2,synonymous_variant,p.=,ENST00000334433,;TACC2,synonymous_variant,p.=,ENST00000515273,NM_001291877.1;TACC2,synonymous_variant,p.=,ENST00000453444,;TACC2,synonymous_variant,p.=,ENST00000515603,NM_001291876.1;TACC2,intron_variant,,ENST00000513429,NM_206861.2;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;TACC2,downstream_gene_variant,,ENST00000498721,;	A	ENST00000369005	Transcript	synonymous_variant	1111/9673	771/8847	257/2948	Q	caG/caA		1		1	TACC2	HGNC	HGNC:11523	protein_coding	YES	CCDS7626.1	ENSP00000358001	O95359		UPI0000246F6B	NM_206862.3			4/23		hmmpanther:PTHR13924:SF11,hmmpanther:PTHR13924																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	71	122083271	122083271	G	A	1	0	0	0	0	0	0	0	1	15898	962	34	3		3	TACC2	10	122083271	Silent	SNP	G	C3N-01071_TP	7952000	122083271	11714151	207	23194											
DMBT1	0	.	GRCh38	chr10	122629891	122629891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctatgccagtgggacattctCcagcccatcctaccctgcat	8	10	7	16	0	1	0	0	0	1	0	3	1	2	1	5	1	4	1	5	1	2	3	rs774605711		C3N-01071_TP	C3N-01071_NB	C	C																c.5333C>T	p.Ser1778Phe	p.S1778F	ENST00000368909	44/53	191	174	17	223	222	1	strelka-varscan-mutect	DMBT1,missense_variant,p.Ser1778Phe,ENST00000338354,NM_001320644.1;DMBT1,missense_variant,p.Ser1778Phe,ENST00000368909,NM_001320644.1,NM_007329.2;DMBT1,missense_variant,p.Ser1778Phe,ENST00000619379,NM_001320644.1;DMBT1,missense_variant,p.Ser1768Phe,ENST00000344338,;DMBT1,missense_variant,p.Ser1768Phe,ENST00000368955,NM_017579.2;DMBT1,missense_variant,p.Ser1150Phe,ENST00000330163,;DMBT1,missense_variant,p.Ser1150Phe,ENST00000368956,NM_004406.2;DMBT1,missense_variant,p.Ser498Phe,ENST00000359586,;	T	ENST00000368909	Transcript	missense_variant	5439/7686	5333/7242	1778/2413	S/F	tCc/tTc	rs774605711	1		1	DMBT1	HGNC	HGNC:2926	protein_coding	YES	CCDS44490.1	ENSP00000357905	Q9UGM3		UPI000047021C	NM_001320644.1,NM_007329.2	deleterious(0.03)		44/53		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	5			1										PASS		rs774605711	.												T	3	4	71	122629891	122629891	C	T	1	0	0	0	0	1	0	0	0	4384	855	30	3		3	DMBT1	10	122629891	Missense_Mutation	SNP	C	C3N-01071_TP	546620	122629891	11167531	208	23195											
IFITM1	0	.	GRCh38	chr11	314269	314269	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacagcgagacctccgtGcccgaccatgtcgtctggtc	7	8	10	16	4	1	1	0	0	1	1	5	3	3	1	5	1	2	0	5	1	0	0	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.99G>A	p.=	p.V33V	ENST00000408968	1/2	313	282	31	318	318	0	strelka-varscan-mutect	IFITM1,synonymous_variant,p.=,ENST00000408968,NM_003641.3;IFITM1,synonymous_variant,p.=,ENST00000328221,;IFITM1,synonymous_variant,p.=,ENST00000528780,;IFITM2,intron_variant,,ENST00000399815,;IFITM2,downstream_gene_variant,,ENST00000616316,;IFITM2,downstream_gene_variant,,ENST00000399817,NM_006435.2;IFITM2,downstream_gene_variant,,ENST00000602569,;RP11-326C3.11,upstream_gene_variant,,ENST00000602429,;RP11-326C3.11,upstream_gene_variant,,ENST00000602756,;RP11-326C3.7,upstream_gene_variant,,ENST00000526612,;RP11-326C3.11,upstream_gene_variant,,ENST00000508004,;IFITM1,upstream_gene_variant,,ENST00000525554,;IFITM2,downstream_gene_variant,,ENST00000527146,;	A	ENST00000408968	Transcript	synonymous_variant	417/855	99/378	33/125	V	gtG/gtA		1		1	IFITM1	HGNC	HGNC:5412	protein_coding	YES	CCDS41584.1	ENSP00000386187	P13164		UPI0000228B1B	NM_003641.3			1/2		hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF6																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	71	314269	314269	G	A	1	0	0	0	0	0	0	0	1	7426	1306	46	3		3	IFITM1	11	314269	Silent	SNP	G	C3N-01071_TP		314269	134772353	209	23196											
MRPL23	0	.	GRCh38	chr11	1956365	1956365	+	Missense_Mutation	SNP	A	A	T																															gctcgaggaggagaggcagcAgaggcagagcagcgacccgc																								novel		C3N-01071_TP	C3N-01071_NB	A	A																c.407A>T	p.Gln136Leu	p.Q136L	ENST00000397298	5/5	142	131	11	156	156	0	varscan-mutect	MRPL23,missense_variant,p.Gln136Leu,ENST00000397298,NM_021134.3;MRPL23,missense_variant,p.Gln136Leu,ENST00000381519,;MRPL23,intron_variant,,ENST00000381514,;MRPL23,intron_variant,,ENST00000397297,;MRPL23,intron_variant,,ENST00000397294,;MRPL23,non_coding_transcript_exon_variant,,ENST00000462288,;MRPL23,downstream_gene_variant,,ENST00000484918,;MRPL23,3_prime_UTR_variant,,ENST00000429295,;MRPL23,downstream_gene_variant,,ENST00000466346,;	T	ENST00000397298	Transcript	missense_variant	492/736	407/462	136/153	Q/L	cAg/cTg		1		1	MRPL23	HGNC	HGNC:10322	protein_coding	YES	CCDS31336.1	ENSP00000380466	Q16540	A0A024RCB2	UPI000006EBEF	NM_021134.3	tolerated(0.45)		5/5		hmmpanther:PTHR12059:SF5,hmmpanther:PTHR12059																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	1956365	1956365	A	T	1	0	0	0	0	1	0	0	0	9764	188	7	4		4	MRPL23	11	1956365	Missense_Mutation	SNP	A	C3N-01071_TP	1642096	1956365	133130257	210	23197	490	2									
MRPL23	0	.	GRCh38	chr11	1956367	1956367	+	Missense_Mutation	SNP	A	A	T																															tcgaggaggagaggcagcagAggcagagcagcgacccgcgg																								novel		C3N-01071_TP	C3N-01071_NB	A	A																c.409A>T	p.Arg137Trp	p.R137W	ENST00000397298	5/5	136	125	11	154	153	1	varscan-mutect	MRPL23,missense_variant,p.Arg137Trp,ENST00000397298,NM_021134.3;MRPL23,missense_variant,p.Arg137Trp,ENST00000381519,;MRPL23,intron_variant,,ENST00000381514,;MRPL23,intron_variant,,ENST00000397297,;MRPL23,intron_variant,,ENST00000397294,;MRPL23,non_coding_transcript_exon_variant,,ENST00000462288,;MRPL23,downstream_gene_variant,,ENST00000484918,;MRPL23,3_prime_UTR_variant,,ENST00000429295,;MRPL23,downstream_gene_variant,,ENST00000466346,;	T	ENST00000397298	Transcript	missense_variant	494/736	409/462	137/153	R/W	Agg/Tgg		1		1	MRPL23	HGNC	HGNC:10322	protein_coding	YES	CCDS31336.1	ENSP00000380466	Q16540	A0A024RCB2	UPI000006EBEF	NM_021134.3	deleterious(0.04)		5/5		hmmpanther:PTHR12059:SF5,hmmpanther:PTHR12059																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	1956367	1956367	A	T	1	0	0	0	0	1	0	0	0	9764	295	11	4		4	MRPL23	11	1956367	Missense_Mutation	SNP	A	C3N-01071_TP	2	1956367	133130255	211	23198	490	2									
RRM1	0	.	GRCh38	chr11	4122167	4122167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgatgtgtccaaatgaGtgtcctggtctggatgaggt	7	15	13	6	0	2	3	0	3	2	0	4	4	4	4	2	3	0	0	2	3	1	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.1065G>T	p.Glu355Asp	p.E355D	ENST00000300738	11/19	180	152	28	216	216	0	strelka-varscan-mutect	RRM1,missense_variant,p.Glu355Asp,ENST00000300738,NM_001033.3;RRM1,missense_variant,p.Glu133Asp,ENST00000534285,;RRM1,non_coding_transcript_exon_variant,,ENST00000528470,;RRM1,non_coding_transcript_exon_variant,,ENST00000526304,;RRM1,3_prime_UTR_variant,,ENST00000532170,;RRM1,3_prime_UTR_variant,,ENST00000533349,NM_001318064.1;RRM1,3_prime_UTR_variant,,ENST00000533495,NM_001318065.1;RRM1,3_prime_UTR_variant,,ENST00000528442,;RRM1,non_coding_transcript_exon_variant,,ENST00000531591,;RRM1,non_coding_transcript_exon_variant,,ENST00000529109,;	T	ENST00000300738	Transcript	missense_variant	1269/3076	1065/2379	355/792	E/D	gaG/gaT		1		1	RRM1	HGNC	HGNC:10451	protein_coding	YES	CCDS7750.1	ENSP00000300738	P23921		UPI0000000C7C	NM_001033.3	deleterious_low_confidence(0.03)		11/19		hmmpanther:PTHR11573,Pfam_domain:PF02867,TIGRFAM_domain:TIGR02506,Superfamily_domains:SSF51998																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	4122167	4122167	G	T	1	0	0	0	0	1	0	0	0	13935	1020	36	2		2	RRM1	11	4122167	Missense_Mutation	SNP	G	C3N-01071_TP	2165800	4122167	130964455	212	23199											
UBQLNL	0	.	GRCh38	chr11	5516046	5516046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggttggtgcactctgctGctgtttcctttggtgtttct	1	20	12	8	0	2	0	0	0	2	0	3	0	3	0	1	3	3	7	1	3	0	5	rs764471232		C3N-01071_TP	C3N-01071_NB	G	G																c.396C>A	p.Ser132Arg	p.S132R	ENST00000380184	1/1	132	109	23	134	134	0	strelka-varscan-mutect	UBQLNL,missense_variant,p.Ser132Arg,ENST00000380184,NM_145053.4;HBG2,intron_variant,,ENST00000380259,;OLFM5P,downstream_gene_variant,,ENST00000411807,;	T	ENST00000380184	Transcript	missense_variant	660/2313	396/1428	132/475	S/R	agC/agA	rs764471232	1		-1	UBQLNL	HGNC	HGNC:28294	protein_coding	YES	CCDS31385.1	ENSP00000369531	Q8IYU4		UPI000066D8EC	NM_145053.4	deleterious(0.01)		1/1		hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF9																	MODERATE		SNV				1										PASS		rs764471232	.												T	3	4	71	5516046	5516046	G	T	1	0	0	0	0	1	0	0	0	17424	1310	46	2		2	UBQLNL	11	5516046	Missense_Mutation	SNP	G	C3N-01071_TP	1393879	5516046	129570576	213	23200											
DNHD1	0	.	GRCh38	chr11	6511417	6511417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctaaacctctgcacatcCattcttcgactggtaagagg	10	11	8	12	1	2	1	0	0	2	1	4	2	3	1	3	2	3	2	3	2	3	4	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1380C>T	p.=	p.S460S	ENST00000254579	7/43	109	91	18	99	99	0	strelka-varscan-mutect	DNHD1,synonymous_variant,p.=,ENST00000254579,NM_144666.2;DNHD1,synonymous_variant,p.=,ENST00000527990,;DNHD1,synonymous_variant,p.=,ENST00000354685,NM_173589.3;DNHD1,non_coding_transcript_exon_variant,,ENST00000472080,;	T	ENST00000254579	Transcript	synonymous_variant	1944/14862	1380/14262	460/4753	S	tcC/tcT		1		1	DNHD1	HGNC	HGNC:26532	protein_coding	YES	CCDS44532.1	ENSP00000254579	Q96M86		UPI0001929529	NM_144666.2			7/43		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF244																	LOW	1	SNV	5			1										PASS		rs1272973050	.												T	2	4	71	6511417	6511417	C	T	1	0	0	0	0	0	0	0	1	4481	581	21	3		3	DNHD1	11	6511417	Silent	SNP	C	C3N-01071_TP	995371	6511417	128575205	214	23201											
OTOG	0	.	GRCh38	chr11	17561112	17561112	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acatgcacctcaggcaagtgGgagtgcagcacagctgtctg	10	7	13	11	0	2	0	1	0	1	0	2	1	2	1	1	2	4	5	1	2	1	0	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.1509G>A	p.Trp503Ter	p.W503*	ENST00000399391	13/55	237	197	40	258	258	0	strelka-varscan-mutect	OTOG,stop_gained,p.Trp491Ter,ENST00000399397,NM_001292063.1;OTOG,stop_gained,p.Trp503Ter,ENST00000399391,NM_001277269.1;OTOG,non_coding_transcript_exon_variant,,ENST00000498332,;OTOG,downstream_gene_variant,,ENST00000485669,;	A	ENST00000399391	Transcript	stop_gained	1509/8778	1509/8778	503/2925	W/*	tgG/tgA		1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1			13/55		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228,SMART_domains:SM00215,SMART_domains:SM00216,Superfamily_domains:SSF57603																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	71	17561112	17561112	G	A	1	0	0	0	0	0	1	0	0	11370	1241	43	3		3	OTOG	11	17561112	Nonsense_Mutation	SNP	G	C3N-01071_TP	11049695	17561112	117525510	215	23202											
NAV2	0	.	GRCh38	chr11	20068207	20068207	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagaaaaatgccagtcaGaggtaaggaacagctttctg	16	7	11	7	0	2	3	1	0	1	3	2	4	2	4	1	2	3	2	1	2	5	2	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.5074G>C	p.Glu1692Gln	p.E1692Q	ENST00000396087	23/41	326	289	37	253	253	0	strelka-varscan-mutect	NAV2,missense_variant,p.Glu1692Gln,ENST00000527559,;NAV2,missense_variant,p.Glu1636Gln,ENST00000540292,;NAV2,missense_variant,p.Glu1636Gln,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.Glu1636Gln,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.Glu1572Gln,ENST00000360655,NM_001111018.1;NAV2,missense_variant,p.Glu1692Gln,ENST00000396087,NM_001244963.1;NAV2,missense_variant,p.Glu700Gln,ENST00000533917,NM_001111019.2;NAV2,missense_variant,p.Glu685Gln,ENST00000525322,;	C	ENST00000396087	Transcript	missense_variant,splice_region_variant	5173/7882	5074/7467	1692/2488	E/Q	Gag/Cag		1		1	NAV2	HGNC	HGNC:15997	protein_coding	YES	CCDS58126.1	ENSP00000379396	Q8IVL1		UPI00001E0580	NM_001244963.1	tolerated(0.13)		23/41		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	71	20068207	20068207	G	C	1	0	0	0	0	1	0	0	0	10193	956	33	4		4	NAV2	11	20068207	Missense_Mutation	SNP	G	C3N-01071_TP	2507095	20068207	115018415	216	23203											
NELL1	0	.	GRCh38	chr11	21229439	21229439	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccgggctacgtggggaacGggaccatctgcagaggtagg	10	5	17	9	3	1	1	0	0	1	1	1	3	1	3	2	6	4	3	2	6	4	2	rs768262280		C3N-01071_TP	C3N-01071_NB	G	G																c.1618G>C	p.Gly540Arg	p.G540R	ENST00000298925	15/21	210	181	29	173	173	0	strelka-varscan-mutect	NELL1,missense_variant,p.Gly540Arg,ENST00000298925,NM_001288713.1;NELL1,missense_variant,p.Gly455Arg,ENST00000325319,NM_001288714.1;NELL1,missense_variant,p.Gly512Arg,ENST00000357134,NM_006157.4;NELL1,missense_variant,p.Gly512Arg,ENST00000532434,NM_201551.2;NELL1,downstream_gene_variant,,ENST00000530672,;	C	ENST00000298925	Transcript	missense_variant	1771/3329	1618/2517	540/838	G/R	Ggg/Cgg	rs768262280,COSM182980,COSM4641449	1		1	NELL1	HGNC	HGNC:7750	protein_coding	YES	CCDS73267.1	ENSP00000298925		J3KNC5	UPI0000228C6F	NM_001288713.1	deleterious(0.01)		15/21		Gene3D:2.10.25.10,Pfam_domain:PF12947,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs768262280	.												C	3	2	71	21229439	21229439	G	C	1	0	0	0	0	1	0	0	0	10364	1116	39	4		4	NELL1	11	21229439	Missense_Mutation	SNP	G	C3N-01071_TP	1161232	21229439	113857183	217	23204											
SLC17A6	0	.	GRCh38	chr11	22341529	22341529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccctgctctgccgcgcaggGtgctggagaagaagcaagac	9	5	14	13	2	1	3	0	0	1	3	1	4	1	3	3	2	4	4	3	2	3	0	rs367738817		C3N-01071_TP	C3N-01071_NB	G	G																c.88G>A	p.Val30Met	p.V30M	ENST00000263160	2/12	132	125	7	147	147	0	strelka-varscan-mutect	SLC17A6,missense_variant,p.Val30Met,ENST00000263160,NM_020346.2;CTD-2140G10.2,upstream_gene_variant,,ENST00000528009,;CTD-2140G10.2,upstream_gene_variant,,ENST00000531304,;CTD-2140G10.2,upstream_gene_variant,,ENST00000530569,;SLC17A6,upstream_gene_variant,,ENST00000534115,;	A	ENST00000263160	Transcript	missense_variant,splice_region_variant	525/3949	88/1749	30/582	V/M	Gtg/Atg	rs367738817,COSM4574279	1		1	SLC17A6	HGNC	HGNC:16703	protein_coding	YES	CCDS7856.1	ENSP00000263160	Q9P2U8		UPI0000073F14	NM_020346.2	tolerated(0.24)		2/12		hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF201											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs367738817	.												A	3	1	71	22341529	22341529	G	A	1	0	0	0	0	1	0	0	0	14686	1275	44	3		3	SLC17A6	11	22341529	Missense_Mutation	SNP	G	C3N-01071_TP	1112090	22341529	112745093	218	23205											
ARFGAP2	0	.	GRCh38	chr11	47171503	47171503	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agattctgtagcttcttttcCtctttcttacgatcaatctg	7	19	5	10	1	6	1	1	0	5	1	7	2	7	1	1	0	2	2	1	0	3	7	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.864G>A	p.=	p.E288E	ENST00000524782	10/16	192	164	28	156	156	0	strelka-varscan-mutect	ARFGAP2,synonymous_variant,p.=,ENST00000524782,NM_032389.4;ARFGAP2,synonymous_variant,p.=,ENST00000426335,NM_001242832.1;ARFGAP2,synonymous_variant,p.=,ENST00000627920,;ARFGAP2,synonymous_variant,p.=,ENST00000525398,;ARFGAP2,synonymous_variant,p.=,ENST00000527927,;ARFGAP2,synonymous_variant,p.=,ENST00000527776,;ARFGAP2,intron_variant,,ENST00000526342,;ARFGAP2,downstream_gene_variant,,ENST00000525314,;ARFGAP2,downstream_gene_variant,,ENST00000528444,;ARFGAP2,downstream_gene_variant,,ENST00000530596,;ARFGAP2,downstream_gene_variant,,ENST00000629231,;RP11-390K5.6,upstream_gene_variant,,ENST00000524412,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000395449,;ARFGAP2,downstream_gene_variant,,ENST00000531750,;ARFGAP2,downstream_gene_variant,,ENST00000533939,;ARFGAP2,downstream_gene_variant,,ENST00000529599,;ARFGAP2,3_prime_UTR_variant,,ENST00000533243,;ARFGAP2,3_prime_UTR_variant,,ENST00000532478,;ARFGAP2,3_prime_UTR_variant,,ENST00000529455,;ARFGAP2,3_prime_UTR_variant,,ENST00000532438,;ARFGAP2,downstream_gene_variant,,ENST00000526185,;ARFGAP2,downstream_gene_variant,,ENST00000524727,;ARFGAP2,downstream_gene_variant,,ENST00000527097,;ARFGAP2,downstream_gene_variant,,ENST00000528041,;ARFGAP2,downstream_gene_variant,,ENST00000526948,;ARFGAP2,downstream_gene_variant,,ENST00000529439,;ARFGAP2,downstream_gene_variant,,ENST00000528708,;ARFGAP2,downstream_gene_variant,,ENST00000524586,;ARFGAP2,downstream_gene_variant,,ENST00000528072,;ARFGAP2,upstream_gene_variant,,ENST00000525635,;ARFGAP2,downstream_gene_variant,,ENST00000530794,;	T	ENST00000524782	Transcript	synonymous_variant	1093/2976	864/1566	288/521	E	gaG/gaA		1		-1	ARFGAP2	HGNC	HGNC:13504	protein_coding	YES	CCDS7926.1	ENSP00000434442	Q8N6H7		UPI000006F4C6	NM_032389.4			10/16		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF194																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	71	47171503	47171503	C	T	1	0	0	0	0	0	0	0	1	973	680	24	3		3	ARFGAP2	11	47171503	Silent	SNP	C	C3N-01071_TP	24829974	47171503	87915119	219	23206											
NRXN2	0	.	GRCh38	chr11	64660894	64660894	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgggagcaaaagggggcaaCgcccacagccccctgagcct	10	2	13	16	2	0	1	0	1	0	0	0	2	0	2	5	3	4	2	5	3	3	0			C3N-01071_TP	C3N-01071_NB	C	C																c.2044G>C	p.Val682Leu	p.V682L	ENST00000265459	10/23	115	82	33	94	94	0	strelka-varscan-mutect	NRXN2,missense_variant,p.Val682Leu,ENST00000265459,NM_015080.3;NRXN2,missense_variant,p.Val651Leu,ENST00000377559,NM_138732.2;NRXN2,missense_variant,p.Val675Leu,ENST00000409571,;NRXN2,missense_variant,p.Val682Leu,ENST00000377551,;AP001092.4,downstream_gene_variant,,ENST00000433606,;NRXN2,non_coding_transcript_exon_variant,,ENST00000496291,;NRXN2,upstream_gene_variant,,ENST00000486057,;	G	ENST00000265459	Transcript	missense_variant	2506/6621	2044/5139	682/1712	V/L	Gtt/Ctt	COSM544470	1		-1	NRXN2	HGNC	HGNC:8009	protein_coding	YES	CCDS8077.1	ENSP00000265459	Q9P2S2		UPI0000130AA2	NM_015080.3	tolerated(0.06)		10/23		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF593,Superfamily_domains:SSF49899											1						MODERATE		SNV	5		1	1										PASS		rs1056113277	.												G	3	3	71	64660894	64660894	C	G	1	0	0	0	0	1	0	0	0	10725	536	19	4		4	NRXN2	11	64660894	Missense_Mutation	SNP	C	C3N-01071_TP	17489391	64660894	70425728	220	23207											
KCNK7	0	.	GRCh38	chr11	65593132	65593132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgggtctgaagaacttcCccatggcacggacctgcggc	8	7	12	14	2	1	2	0	1	1	1	2	3	2	3	3	4	2	1	3	4	2	1	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.797G>A	p.Gly266Glu	p.G266E	ENST00000340313	3/3	370	309	61	398	398	0	strelka-varscan-mutect	KCNK7,missense_variant,p.Gly266Glu,ENST00000340313,NM_033347.1;KCNK7,missense_variant,p.Gly31Glu,ENST00000530380,;KCNK7,3_prime_UTR_variant,,ENST00000394216,NM_005714.1;KCNK7,3_prime_UTR_variant,,ENST00000394217,NM_033348.1,NM_033455.1;KCNK7,3_prime_UTR_variant,,ENST00000342202,;KCNK7,3_prime_UTR_variant,,ENST00000525254,;EHBP1L1,downstream_gene_variant,,ENST00000309295,NM_001099409.1;MAP3K11,downstream_gene_variant,,ENST00000309100,NM_002419.3;MAP3K11,downstream_gene_variant,,ENST00000530153,;MAP3K11,downstream_gene_variant,,ENST00000532507,;EHBP1L1,downstream_gene_variant,,ENST00000529596,;EHBP1L1,downstream_gene_variant,,ENST00000529099,;EHBP1L1,downstream_gene_variant,,ENST00000529056,;MAP3K11,downstream_gene_variant,,ENST00000524848,;EHBP1L1,downstream_gene_variant,,ENST00000533364,;EHBP1L1,downstream_gene_variant,,ENST00000527214,;	T	ENST00000340313	Transcript	missense_variant	1021/1298	797/924	266/307	G/E	gGg/gAg		1		-1	KCNK7	HGNC	HGNC:6282	protein_coding	YES	CCDS31608.1	ENSP00000344820	Q9Y2U2		UPI0000127A52	NM_033347.1	tolerated(0.43)		3/3		hmmpanther:PTHR11003:SF31,hmmpanther:PTHR11003,PIRSF_domain:PIRSF038061,Prints_domain:PR01586																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	65593132	65593132	C	T	1	0	0	0	0	1	0	0	0	7988	623	22	3		3	KCNK7	11	65593132	Missense_Mutation	SNP	C	C3N-01071_TP	932238	65593132	69493490	221	23208											
ARHGEF17	0	.	GRCh38	chr11	73362156	73362156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcctgcgcgccgagccGgacgtggaggcctgcatcgc	5	5	16	15	6	0	1	0	1	0	0	1	4	0	3	4	3	4	1	4	3	0	0	rs369670623		C3N-01071_TP	C3N-01071_NB	G	G																c.4611G>A	p.=	p.P1537P	ENST00000263674	13/21	317	248	69	325	325	0	strelka-varscan-mutect	ARHGEF17,synonymous_variant,p.=,ENST00000263674,NM_014786.3;ARHGEF17,upstream_gene_variant,,ENST00000543530,;ARHGEF17,upstream_gene_variant,,ENST00000536481,;	A	ENST00000263674	Transcript	synonymous_variant	4961/7853	4611/6192	1537/2063	P	ccG/ccA	rs369670623	1		1	ARHGEF17	HGNC	HGNC:21726	protein_coding	YES	CCDS8221.1	ENSP00000263674	Q96PE2		UPI000004980B	NM_014786.3			13/21		hmmpanther:PTHR12877:SF15,hmmpanther:PTHR12877																	LOW	1	SNV	1			1										PASS		rs369670623	.												A	2	1	71	73362156	73362156	G	A	1	0	0	0	0	0	0	0	1	1030	1103	39	1		1	ARHGEF17	11	73362156	Silent	SNP	G	C3N-01071_TP	7769024	73362156	61724466	222	23209											
TRIM49	0	.	GRCh38	chr11	89798267	89798267	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccaggaataatcctactcGgctggtaggttttgggatat	10	13	11	7	1	0	0	0	0	0	0	3	2	2	2	2	5	1	3	2	5	5	6			C3N-01071_TP	C3N-01071_NB	G	G																c.1222C>A	p.=	p.R408R	ENST00000329758	8/8	165	143	22	150	150	0	varscan-mutect	TRIM49,synonymous_variant,p.=,ENST00000329758,NM_020358.2;TRIM49,synonymous_variant,p.=,ENST00000532501,;	T	ENST00000329758	Transcript	synonymous_variant	1551/2163	1222/1359	408/452	R	Cga/Aga	COSM215500	1		-1	TRIM49	HGNC	HGNC:13431	protein_coding	YES	CCDS8287.1	ENSP00000327604	P0CI25		UPI000013431B	NM_020358.2			8/8		Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,SMART_domains:SM00449,Superfamily_domains:SSF49899											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	71	89798267	89798267	G	T	1	0	0	0	0	0	0	0	1	17014	1124	39	1		1	TRIM49	11	89798267	Silent	SNP	G	C3N-01071_TP	16436111	89798267	45288355	223	23210											
CEP295	0	.	GRCh38	chr11	93727330	93727330	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgggctttgaagaactatCaaaaagaggggttgttacaa	15	11	11	4	0	1	3	1	1	0	2	1	3	1	3	0	3	2	3	0	3	8	5	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.6854C>G	p.Ser2285Ter	p.S2285*	ENST00000325212	24/30	184	150	34	172	172	0	strelka-varscan-mutect	CEP295,stop_gained,p.Ser2285Ter,ENST00000325212,NM_033395.1;CEP295,stop_gained,p.Ser465Ter,ENST00000531700,;CEP295,stop_gained,p.Ser297Ter,ENST00000531404,;CEP295,downstream_gene_variant,,ENST00000530425,;CEP295,downstream_gene_variant,,ENST00000529185,;SNORA25,downstream_gene_variant,,ENST00000384384,;SNORA1,downstream_gene_variant,,ENST00000384107,;SNORA32,downstream_gene_variant,,ENST00000384072,;SNORD6,downstream_gene_variant,,ENST00000365444,;RP11-178H8.7,non_coding_transcript_exon_variant,,ENST00000624493,;TAF1D,downstream_gene_variant,,ENST00000546088,;TAF1D,downstream_gene_variant,,ENST00000530089,;TAF1D,downstream_gene_variant,,ENST00000530769,;TAF1D,downstream_gene_variant,,ENST00000323981,;TAF1D,downstream_gene_variant,,ENST00000526015,;TAF1D,downstream_gene_variant,,ENST00000525928,;TAF1D,downstream_gene_variant,,ENST00000527169,;TAF1D,downstream_gene_variant,,ENST00000529900,;TAF1D,downstream_gene_variant,,ENST00000529435,;TAF1D,downstream_gene_variant,,ENST00000534079,;TAF1D,downstream_gene_variant,,ENST00000393259,;TAF1D,downstream_gene_variant,,ENST00000540232,;	G	ENST00000325212	Transcript	stop_gained	7016/8057	6854/7806	2285/2601	S/*	tCa/tGa		1		1	CEP295	HGNC	HGNC:29366	protein_coding	YES	CCDS44708.1	ENSP00000316681	Q9C0D2		UPI0000251F0E	NM_033395.1			24/30		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF25																	HIGH	1	SNV	2			1										PASS		.	.												G	4	3	71	93727330	93727330	C	G	1	0	0	0	0	0	1	0	0	2970	838	29	4		4	CEP295	11	93727330	Nonsense_Mutation	SNP	C	C3N-01071_TP	3929063	93727330	41359292	224	23211											
C11orf70	0	.	GRCh38	chr11	102066521	102066521	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgaagctataaatgttcCttgcacacagctttcaatgt	13	14	6	8	0	1	1	1	1	0	0	2	1	2	1	1	0	3	4	1	0	6	6	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.305C>G	p.Pro102Arg	p.P102R	ENST00000434758	4/7	203	166	37	169	169	0	strelka-varscan-mutect	C11orf70,missense_variant,p.Pro102Arg,ENST00000434758,NM_032930.2;C11orf70,missense_variant,p.Pro102Arg,ENST00000526781,;C11orf70,intron_variant,,ENST00000534360,NM_001195005.1;C11orf70,upstream_gene_variant,,ENST00000529204,;C11orf70,non_coding_transcript_exon_variant,,ENST00000530659,;	G	ENST00000434758	Transcript	missense_variant	333/2193	305/804	102/267	P/R	cCt/cGt		1		1	C11orf70	HGNC	HGNC:28188	protein_coding	YES	CCDS8313.2	ENSP00000414390	Q9BRQ4		UPI00001FA24F	NM_032930.2	deleterious(0.04)		4/7		Pfam_domain:PF14926,hmmpanther:PTHR31078,hmmpanther:PTHR31078:SF1																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	71	102066521	102066521	C	G	1	0	0	0	0	1	0	0	0	1793	681	24	4		4	C11orf70	11	102066521	Missense_Mutation	SNP	C	C3N-01071_TP	8339191	102066521	33020101	225	23212											
DSCAML1	0	.	GRCh38	chr11	117432359	117432359	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggataatgcgtactggttccTggccggatgtcagacatgtc	8	11	13	9	2	1	1	1	0	0	1	3	3	2	3	2	4	2	2	2	4	2	3	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.5352A>T	p.=	p.P1784P	ENST00000321322	30/33	133	123	10	147	146	1	strelka-varscan-mutect	DSCAML1,synonymous_variant,p.=,ENST00000321322,NM_020693.3;DSCAML1,synonymous_variant,p.=,ENST00000527706,;	A	ENST00000321322	Transcript	synonymous_variant	5354/6899	5352/6342	1784/2113	P	ccA/ccT		1		-1	DSCAML1	HGNC	HGNC:14656	protein_coding	YES	CCDS8384.1	ENSP00000315465	Q8TD84		UPI00000726E2	NM_020693.3			30/33		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	71	117432359	117432359	T	A	1	0	0	0	0	0	0	0	1	4590	1567	55	4		4	DSCAML1	11	117432359	Silent	SNP	T	C3N-01071_TP	15365838	117432359	17654263	226	23213											
TECTA	0	.	GRCh38	chr11	121118517	121118517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacactaccacacttttgaCggcttcctcttccacttcca	8	12	3	18	1	1	1	0	1	1	0	4	1	4	1	5	1	1	1	5	1	1	6	rs35282525		C3N-01071_TP	C3N-01071_NB	C	C																c.1002C>A	p.Asp334Glu	p.D334E	ENST00000392793	7/24	437	415	22	410	410	0	strelka-varscan-mutect	TECTA,missense_variant,p.Asp334Glu,ENST00000392793,;TECTA,missense_variant,p.Asp334Glu,ENST00000264037,NM_005422.2;	A	ENST00000392793	Transcript	missense_variant	1273/7426	1002/6468	334/2155	D/E	gaC/gaA	rs35282525	1		1	TECTA	HGNC	HGNC:11720	protein_coding	YES	CCDS8434.1	ENSP00000376543	O75443		UPI000045659D		deleterious(0)		7/24		PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF235,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216,SMART_domains:SM00215																	MODERATE	1	SNV	5			1										PASS		rs35282525	.												A	3	1	71	121118517	121118517	C	A	1	0	0	0	0	1	0	0	0	16158	535	19	1		1	TECTA	11	121118517	Missense_Mutation	SNP	C	C3N-01071_TP	3686158	121118517	13968105	227	23214											
OR10G7	0	.	GRCh38	chr11	124038983	124038983	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgaggatgaacgctgtcaGtagggtggcgttggacattt	8	11	16	6	3	1	2	1	2	0	0	1	4	1	4	0	4	1	3	0	4	2	3	rs772678010		C3N-01071_TP	C3N-01071_NB	G	G																c.19C>G	p.Leu7Val	p.L7V	ENST00000330487	1/1	116	110	6	94	94	0	varscan-mutect	OR10G7,missense_variant,p.Leu7Val,ENST00000330487,NM_001004463.1;	C	ENST00000330487	Transcript	missense_variant	28/945	19/936	7/311	L/V	Ctg/Gtg	rs772678010	1		-1	OR10G7	HGNC	HGNC:14842	protein_coding	YES	CCDS31705.1	ENSP00000329689	Q8NGN6	A0A126GWF3	UPI0000040A84	NM_001004463.1	tolerated(1)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF7,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs772678010	.												C	3	2	71	124038983	124038983	G	C	1	0	0	0	0	1	0	0	0	10979	1020	36	4		4	OR10G7	11	124038983	Missense_Mutation	SNP	G	C3N-01071_TP	2920466	124038983	11047639	228	23215											
APLP2	0	.	GRCh38	chr11	130110592	130110592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcaaaccagcgggttagtAttgacaactggtgccggagg	11	7	15	8	2	0	1	0	1	0	0	0	2	0	2	2	5	4	3	2	5	4	3	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.334A>G	p.Ile112Val	p.I112V	ENST00000263574	3/18	210	174	36	258	258	0	strelka-varscan-mutect	APLP2,missense_variant,p.Ile112Val,ENST00000263574,NM_001642.2;APLP2,missense_variant,p.Ile122Val,ENST00000278756,NM_001243299.1;APLP2,missense_variant,p.Ile112Val,ENST00000338167,NM_001142276.1;APLP2,missense_variant,p.Ile112Val,ENST00000528499,NM_001142277.1;APLP2,missense_variant,p.Ile112Val,ENST00000345598,NM_001142278.1;APLP2,missense_variant,p.Ile137Val,ENST00000533195,;APLP2,missense_variant,p.Ile97Val,ENST00000533713,;U4,downstream_gene_variant,,ENST00000618561,;APLP2,splice_region_variant,,ENST00000526330,;APLP2,non_coding_transcript_exon_variant,,ENST00000532456,;APLP2,non_coding_transcript_exon_variant,,ENST00000534001,;APLP2,non_coding_transcript_exon_variant,,ENST00000527702,;APLP2,non_coding_transcript_exon_variant,,ENST00000529235,;APLP2,non_coding_transcript_exon_variant,,ENST00000529483,;APLP2,intron_variant,,ENST00000529701,;APLP2,intron_variant,,ENST00000534761,;APLP2,non_coding_transcript_exon_variant,,ENST00000533618,;APLP2,intron_variant,,ENST00000533616,;APLP2,intron_variant,,ENST00000534582,;APLP2,downstream_gene_variant,,ENST00000533532,;APLP2,downstream_gene_variant,,ENST00000461918,;APLP2,downstream_gene_variant,,ENST00000530132,;APLP2,downstream_gene_variant,,ENST00000525215,;	G	ENST00000263574	Transcript	missense_variant	406/3727	334/2292	112/763	I/V	Att/Gtt		1		1	APLP2	HGNC	HGNC:598	protein_coding	YES	CCDS8486.1	ENSP00000263574	Q06481		UPI0000125CAE	NM_001642.2	tolerated(0.07)		3/18		Superfamily_domains:0041119,Gene3D:1mwpA00,Pfam_domain:PF02177,hmmpanther:PTHR23103,hmmpanther:PTHR23103:SF14,SMART_domains:SM00006																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	130110592	130110592	A	G	1	0	0	0	0	1	0	0	0	901	449	16	5		5	APLP2	11	130110592	Missense_Mutation	SNP	A	C3N-01071_TP	6071609	130110592	4976030	229	23216											
CACNA1C	0	.	GRCh38	chr12	2677198	2677198	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgtgggcaagccctccCagaggaacgcgctgtctctg	6	8	13	14	2	1	1	0	0	1	1	3	2	2	2	3	2	2	2	3	2	2	1	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.5077C>T	p.Gln1693Ter	p.Q1693*	ENST00000347598	42/49	213	172	41	126	126	0	strelka-varscan-mutect	CACNA1C,stop_gained,p.Gln1645Ter,ENST00000399655,NM_000719.6;CACNA1C,stop_gained,p.Gln1645Ter,ENST00000399634,NM_001167625.1;CACNA1C,stop_gained,p.Gln1645Ter,ENST00000406454,;CACNA1C,stop_gained,p.Gln1645Ter,ENST00000399617,NM_001167624.2;CACNA1C,stop_gained,p.Gln1645Ter,ENST00000399603,NM_001167623.1;CACNA1C,stop_gained,p.Gln1670Ter,ENST00000335762,;CACNA1C,stop_gained,p.Gln1693Ter,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,stop_gained,p.Gln1686Ter,ENST00000344100,NM_001129829.1;CACNA1C,stop_gained,p.Gln1645Ter,ENST00000327702,NM_001129830.2;CACNA1C,stop_gained,p.Gln1673Ter,ENST00000399638,NM_001129831.1;CACNA1C,stop_gained,p.Gln1665Ter,ENST00000399606,NM_001129832.1;CACNA1C,stop_gained,p.Gln1664Ter,ENST00000399621,NM_001129834.1;CACNA1C,stop_gained,p.Gln1664Ter,ENST00000399637,NM_001129835.1;CACNA1C,stop_gained,p.Gln1664Ter,ENST00000402845,NM_001129833.1;CACNA1C,stop_gained,p.Gln1662Ter,ENST00000399629,NM_001129836.1;CACNA1C,stop_gained,p.Gln1653Ter,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,stop_gained,p.Gln1653Ter,ENST00000399595,NM_001129837.1;CACNA1C,stop_gained,p.Gln1651Ter,ENST00000399649,NM_001129839.1;CACNA1C,stop_gained,p.Gln1645Ter,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,stop_gained,p.Gln1645Ter,ENST00000399601,NM_001129843.1;CACNA1C,stop_gained,p.Gln1645Ter,ENST00000399641,NM_001129840.1;CACNA1C,stop_gained,p.Gln1645Ter,ENST00000399644,NM_001129841.1;CACNA1C,stop_gained,p.Gln336Ter,ENST00000616390,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000501371,;CACNA1C-AS2,upstream_gene_variant,,ENST00000545526,;CACNA1C,non_coding_transcript_exon_variant,,ENST00000465934,;	T	ENST00000347598	Transcript	stop_gained	5077/6655	5077/6561	1693/2186	Q/*	Cag/Tag		1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3			42/49		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	71	2677198	2677198	C	T	1	0	0	0	0	0	1	0	0	2228	595	21	3		3	CACNA1C	12	2677198	Nonsense_Mutation	SNP	C	C3N-01071_TP		2677198	130598111	230	23217											
CD163	0	.	GRCh38	chr12	7496869	7496869	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataatgctttccccattcaTggtgtttacattgccagata	11	15	6	9	0	1	1	1	0	0	1	2	1	2	1	3	1	3	2	3	1	4	7	rs776894691		C3N-01071_TP	C3N-01071_NB	T	T																c.1043A>T	p.His348Leu	p.H348L	ENST00000359156	5/17	268	249	19	425	425	0	strelka-varscan-mutect	CD163,missense_variant,p.His348Leu,ENST00000359156,NM_004244.5;CD163,missense_variant,p.His348Leu,ENST00000396620,;CD163,missense_variant,p.His348Leu,ENST00000432237,NM_203416.3;CD163,missense_variant,p.His336Leu,ENST00000541972,;CD163,non_coding_transcript_exon_variant,,ENST00000537044,;	A	ENST00000359156	Transcript	missense_variant	1246/4268	1043/3471	348/1156	H/L	cAt/cTt	rs776894691	1		-1	CD163	HGNC	HGNC:1631	protein_coding	YES	CCDS8578.1	ENSP00000352071	Q86VB7		UPI00004565CC	NM_004244.5	tolerated(0.25)		5/17		Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF324,SMART_domains:SM00202,Superfamily_domains:SSF56487																	MODERATE	1	SNV	1			1										PASS		rs776894691	.												A	3	1	71	7496869	7496869	T	A	1	0	0	0	0	1	0	0	0	2670	1464	51	4		4	CD163	12	7496869	Missense_Mutation	SNP	T	C3N-01071_TP	4819671	7496869	125778440	231	23218											
TAS2R10	0	.	GRCh38	chr12	10825828	10825828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatcattaagaatcttcgCaatgtatgcaaaattaagta	18	13	5	5	1	2	1	1	0	1	1	3	1	2	1	0	0	1	4	0	0	9	6	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.442G>A	p.Ala148Thr	p.A148T	ENST00000240619	1/1	132	109	23	70	70	0	strelka-varscan-mutect	TAS2R10,missense_variant,p.Ala148Thr,ENST00000240619,NM_023921.1;PRH1,intron_variant,,ENST00000538332,;	T	ENST00000240619	Transcript	missense_variant	531/1042	442/924	148/307	A/T	Gcg/Acg		1		-1	TAS2R10	HGNC	HGNC:14918	protein_coding	YES	CCDS8634.1	ENSP00000240619	Q9NYW0		UPI0000038B12	NM_023921.1	tolerated(0.49)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF63,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	71	10825828	10825828	C	T	1	0	0	0	0	1	0	0	0	15965	710	25	3		3	TAS2R10	12	10825828	Missense_Mutation	SNP	C	C3N-01071_TP	3328959	10825828	122449481	232	23219											
PRB2	0	.	GRCh38	chr12	11393672	11393672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtccttgtggctttcctgGaggaggtggaggaccttgag	5	12	17	7	0	0	1	0	1	0	0	2	5	2	5	3	7	0	1	3	7	0	3	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.406C>A	p.Pro136Thr	p.P136T	ENST00000389362	3/4	46	39	7	41	41	0	strelka-varscan-mutect	PRB2,missense_variant,p.Pro136Thr,ENST00000389362,NM_006248.3;PRB1,intron_variant,,ENST00000546254,;PRB2,downstream_gene_variant,,ENST00000565533,;PRB2,downstream_gene_variant,,ENST00000545829,;	T	ENST00000389362	Transcript	missense_variant	442/1429	406/1251	136/416	P/T	Cca/Aca		1		-1	PRB2	HGNC	HGNC:9338	protein_coding	YES	CCDS41757.2	ENSP00000374013	P02812		UPI0000EE5993	NM_006248.3	tolerated(0.38)		3/4		Low_complexity_(Seg):seg,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF2,SMART_domains:SM01412																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	71	11393672	11393672	G	T	1	0	0	0	0	1	0	0	0	12574	1174	41	2		2	PRB2	12	11393672	Missense_Mutation	SNP	G	C3N-01071_TP	567844	11393672	121881637	233	23220											
CDKN1B	0	.	GRCh38	chr12	12721091	12721091	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcttgatgaagcaaggAagatatacatgaaaatttta	17	11	8	5	0	0	4	0	3	0	1	0	5	0	5	0	1	3	2	0	1	8	5	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.502A>C	p.Lys168Gln	p.K168Q	ENST00000396340	2/2	80	73	7	65	65	0	strelka-varscan-mutect	CDKN1B,missense_variant,p.Lys168Gln,ENST00000396340,;CDKN1B,3_prime_UTR_variant,,ENST00000228872,NM_004064.4;CDKN1B,3_prime_UTR_variant,,ENST00000442489,;APOLD1,upstream_gene_variant,,ENST00000326765,NM_001130415.1;RP11-180M15.7,downstream_gene_variant,,ENST00000614874,;RP11-180M15.4,downstream_gene_variant,,ENST00000542291,;CDKN1B,non_coding_transcript_exon_variant,,ENST00000477087,;APOLD1,upstream_gene_variant,,ENST00000534843,;APOLD1,upstream_gene_variant,,ENST00000540583,;APOLD1,upstream_gene_variant,,ENST00000588943,;	C	ENST00000396340	Transcript	missense_variant	520/897	502/618	168/205	K/Q	Aag/Cag		1		1	CDKN1B	HGNC	HGNC:1785	protein_coding			ENSP00000379629		E7ES52	UPI000155D50D		tolerated_low_confidence(0.11)		2/2																			MODERATE		SNV	3			1										PASS		.	.												C	3	2	71	12721091	12721091	A	C	1	0	0	0	0	1	0	0	0	2863	247	9	5		5	CDKN1B	12	12721091	Missense_Mutation	SNP	A	C3N-01071_TP	1327419	12721091	120554218	234	23221											
GRIN2B	0	.	GRCh38	chr12	13753514	13753514	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcccagtggggaactcCgcaggcactgtgtctgtatc	8	9	13	11	1	1	1	0	1	1	0	3	2	2	2	2	3	2	3	2	3	2	1	rs201732785		C3N-01071_TP	C3N-01071_NB	C	C																c.813G>A	p.=	p.A271A	ENST00000609686	3/13	322	297	25	263	263	0	strelka-varscan-mutect	GRIN2B,synonymous_variant,p.=,ENST00000609686,NM_000834.3;	T	ENST00000609686	Transcript	synonymous_variant	1267/30355	813/4455	271/1484	A	gcG/gcA	rs201732785	1		-1	GRIN2B	HGNC	HGNC:4586	protein_coding	YES	CCDS8662.1	ENSP00000477455	Q13224		UPI000013026C	NM_000834.3			3/13		Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF192,Superfamily_domains:SSF53822																	LOW	1	SNV	1			1										PASS		rs201732785	.												T	2	4	71	13753514	13753514	C	T	1	0	0	0	0	0	0	0	1	6662	639	23	1		1	GRIN2B	12	13753514	Silent	SNP	C	C3N-01071_TP	1032423	13753514	119521795	235	23222											
SLCO1C1	0	.	GRCh38	chr12	20699661	20699661	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccttcttttaaaacagaaTatccctcctcagaagaaaag	15	10	6	10	0	2	3	1	0	1	3	4	3	4	3	3	1	1	0	3	1	7	4	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.85T>A	p.Tyr29Asn	p.Y29N	ENST00000545604	3/16	217	197	20	229	229	0	strelka-varscan-mutect	SLCO1C1,missense_variant,p.Tyr29Asn,ENST00000266509,NM_017435.4;SLCO1C1,missense_variant,p.Tyr29Asn,ENST00000545604,NM_001145946.1;SLCO1C1,missense_variant,p.Tyr29Asn,ENST00000540354,NM_001145945.1;SLCO1C1,intron_variant,,ENST00000545102,NM_001145944.1;SLCO1C1,downstream_gene_variant,,ENST00000535609,;SLCO1C1,downstream_gene_variant,,ENST00000534996,;SLCO1C1,downstream_gene_variant,,ENST00000539443,;SLCO1C1,missense_variant,p.Tyr29Asn,ENST00000539415,;SLCO1C1,non_coding_transcript_exon_variant,,ENST00000497911,;	A	ENST00000545604	Transcript	missense_variant	315/2557	85/2193	29/730	Y/N	Tat/Aat		1		1	SLCO1C1	HGNC	HGNC:13819	protein_coding	YES	CCDS53757.1	ENSP00000444149	Q9NYB5		UPI00004C3E1B	NM_001145946.1	tolerated(0.31)		3/16		hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF99,Superfamily_domains:SSF103473																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	71	20699661	20699661	T	A	1	0	0	0	0	1	0	0	0	15012	1406	49	4		4	SLCO1C1	12	20699661	Missense_Mutation	SNP	T	C3N-01071_TP	6946147	20699661	112575648	236	23223											
TMTC1	0	.	GRCh38	chr12	29520683	29520683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtctggacagttctttattCcagtttggtatatttcttca	7	20	7	7	0	4	0	1	0	3	0	5	1	5	1	1	2	0	3	1	2	3	9	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1823G>T	p.Gly608Val	p.G608V	ENST00000539277	12/18	202	169	33	206	206	0	strelka-varscan-mutect	TMTC1,missense_variant,p.Gly500Val,ENST00000256062,NM_175861.3;TMTC1,missense_variant,p.Gly670Val,ENST00000551659,;TMTC1,missense_variant,p.Gly632Val,ENST00000552618,;TMTC1,missense_variant,p.Gly608Val,ENST00000539277,NM_001193451.1;RP11-310I24.1,intron_variant,,ENST00000549070,;TMTC1,non_coding_transcript_exon_variant,,ENST00000319685,;TMTC1,upstream_gene_variant,,ENST00000552925,;	A	ENST00000539277	Transcript	missense_variant	1882/2758	1823/2649	608/882	G/V	gGa/gTa		1		-1	TMTC1	HGNC	HGNC:24099	protein_coding	YES	CCDS53772.1	ENSP00000442046	Q8IUR5		UPI0001DD37FA	NM_001193451.1	tolerated(0.06)		12/18		Gene3D:1.25.40.10,Pfam_domain:PF13432,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF401,SMART_domains:SM00028,SMART_domains:SM00386,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	29520683	29520683	C	A	1	0	0	0	0	1	0	0	0	16734	855	30	2		2	TMTC1	12	29520683	Missense_Mutation	SNP	C	C3N-01071_TP	8821022	29520683	103754626	237	23224											
FGD4	0	.	GRCh38	chr12	32582356	32582356	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactccaggcataggcccAgtgctccccctagaagaaag	12	5	11	13	0	0	2	0	0	0	2	2	3	2	3	4	3	1	2	4	3	4	2	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.825A>G	p.=	p.P275P	ENST00000525053	4/17	155	145	10	142	142	0	strelka-varscan-mutect	FGD4,synonymous_variant,p.=,ENST00000427716,NM_139241.3,NM_001304483.1;FGD4,synonymous_variant,p.=,ENST00000546442,NM_001304484.1;FGD4,synonymous_variant,p.=,ENST00000534526,;FGD4,synonymous_variant,p.=,ENST00000525053,NM_001304480.1;FGD4,synonymous_variant,p.=,ENST00000531134,NM_001304481.1;FGD4,synonymous_variant,p.=,ENST00000472289,;FGD4,downstream_gene_variant,,ENST00000473513,;FGD4,downstream_gene_variant,,ENST00000550091,;FGD4,synonymous_variant,p.=,ENST00000493087,;FGD4,synonymous_variant,p.=,ENST00000395740,;FGD4,non_coding_transcript_exon_variant,,ENST00000494275,;FGD4,intron_variant,,ENST00000551984,;FGD4,upstream_gene_variant,,ENST00000494977,;	G	ENST00000525053	Transcript	synonymous_variant	909/2925	825/2637	275/878	P	ccA/ccG		1		1	FGD4	HGNC	HGNC:19125	protein_coding	YES	CCDS76545.1	ENSP00000433666		E9PJX4	UPI0001F78470	NM_001304480.1			4/17		hmmpanther:PTHR12673:SF98,hmmpanther:PTHR12673																	LOW	1	SNV	2			1										PASS		.	.												G	2	3	71	32582356	32582356	A	G	1	0	0	0	0	0	0	0	1	5699	175	7	5		5	FGD4	12	32582356	Silent	SNP	A	C3N-01071_TP	3061673	32582356	100692953	238	23225											
C12orf40	0	.	GRCh38	chr12	39721251	39721251	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatccataagaacaactaAtattctaaaatctctaccta	19	11	2	9	0	2	1	0	0	2	1	4	2	3	1	2	0	3	0	2	0	10	7	rs867253891		C3N-01071_TP	C3N-01071_NB	A	A																c.1959A>G	p.=	p.*653*	ENST00000324616	13/13	98	87	11	153	153	0	strelka-varscan-mutect	C12orf40,stop_retained_variant,p.=,ENST00000324616,NM_001031748.2;C12orf40,intron_variant,,ENST00000468200,;	G	ENST00000324616	Transcript	stop_retained_variant	2113/2776	1959/1959	653/652	*	taA/taG	rs867253891	1		1	C12orf40	HGNC	HGNC:26846	protein_coding	YES	CCDS41770.1	ENSP00000317671	Q86WS4		UPI000069A925	NM_001031748.2			13/13																			LOW	1	SNV	1			1										PASS		rs867253891	.												G	2	3	71	39721251	39721251	A	G	1	0	0	0	0	0	0	0	1	1809	108	4	5		5	C12orf40	12	39721251	Silent	SNP	A	C3N-01071_TP	7138895	39721251	93554058	239	23226											
WNT1	0	.	GRCh38	chr12	48981150	48981150	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttcccctatccccgcAgaccgtattctccgagatgc	6	12	6	17	3	2	2	0	0	2	2	5	3	4	2	6	0	1	2	6	0	2	5	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.625-2A>C		p.X209_splice	ENST00000293549		174	147	27	146	146	0	strelka-varscan-mutect	WNT1,splice_acceptor_variant,,ENST00000613114,;WNT1,splice_acceptor_variant,,ENST00000293549,NM_005430.3;	C	ENST00000293549	Transcript	splice_acceptor_variant	-/1185	625/1113	209/370				1		1	WNT1	HGNC	HGNC:12774	protein_coding	YES	CCDS8776.1	ENSP00000293549	P04628		UPI0000051043	NM_005430.3				3/3																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	71	48981150	48981150	A	C	1	0	0	0	0	0	0	1	0	17937	202	7	5		5	WNT1	12	48981150	Splice_Site	SNP	A	C3N-01071_TP	9259899	48981150	84294159	240	23227											
GRASP	0	.	GRCh38	chr12	52007186	52007186	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccccagcggacgagctgtAcgcggcgctggaggactatc	7	5	15	14	5	0	0	0	0	0	0	1	4	0	3	2	4	3	3	2	4	2	2	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.167A>G	p.Tyr56Cys	p.Y56C	ENST00000293662	1/8	93	85	8	111	111	0	strelka-mutect	GRASP,missense_variant,p.Tyr56Cys,ENST00000293662,NM_181711.3;GRASP,upstream_gene_variant,,ENST00000552049,NM_001271856.1;GRASP,upstream_gene_variant,,ENST00000546756,;GRASP,upstream_gene_variant,,ENST00000552963,;GRASP,upstream_gene_variant,,ENST00000547749,;GRASP,upstream_gene_variant,,ENST00000550809,;	G	ENST00000293662	Transcript	missense_variant	247/1933	167/1188	56/395	Y/C	tAc/tGc		1		1	GRASP	HGNC	HGNC:18707	protein_coding	YES	CCDS8817.1	ENSP00000293662	Q7Z6J2		UPI00001A9479	NM_181711.3	deleterious(0.02)		1/8		hmmpanther:PTHR15963,hmmpanther:PTHR15963:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	52007186	52007186	A	G	1	0	0	0	0	1	0	0	0	6634	391	14	5		5	GRASP	12	52007186	Missense_Mutation	SNP	A	C3N-01071_TP	3026036	52007186	81268123	241	23228											
ATP5G2	0	.	GRCh38	chr12	53669158	53669158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatcttacctggcataacCaatgatgaggctcccaaaca	13	10	6	12	0	1	2	0	2	1	0	2	2	2	2	3	2	3	2	3	2	5	3	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.472G>A	p.Gly158Ser	p.G158S	ENST00000394349	4/5	60	46	14	68	68	0	strelka-varscan-mutect	ATP5G2,missense_variant,p.Gly101Ser,ENST00000552242,;ATP5G2,missense_variant,p.Gly117Ser,ENST00000338662,NM_001002031.2;ATP5G2,missense_variant,p.Gly158Ser,ENST00000394349,NM_005176.5;ATP5G2,missense_variant,p.Gly101Ser,ENST00000549164,;ATP5G2,missense_variant,p.Gly101Ser,ENST00000602871,;ATP5G2,5_prime_UTR_variant,,ENST00000549748,;ATP5G2,non_coding_transcript_exon_variant,,ENST00000550241,;ATP5G2,non_coding_transcript_exon_variant,,ENST00000495596,;ATP5G2,downstream_gene_variant,,ENST00000552120,;	T	ENST00000394349	Transcript	missense_variant	605/878	472/597	158/198	G/S	Ggt/Agt		1		-1	ATP5G2	HGNC	HGNC:842	protein_coding	YES	CCDS8863.2	ENSP00000377878	Q06055		UPI000015A460	NM_005176.5	deleterious(0.03)		4/5		Superfamily_domains:0035882,Gene3D:1.20.20.10,HAMAP:MF_01396,Pfam_domain:PF00137,Prints_domain:PR00124,hmmpanther:PTHR10031,hmmpanther:PTHR10031:SF12,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	71	53669158	53669158	C	T	1	0	0	0	0	1	0	0	0	1307	594	21	3		3	ATP5G2	12	53669158	Missense_Mutation	SNP	C	C3N-01071_TP	1661972	53669158	79606151	242	23229											
HELB	0	.	GRCh38	chr12	66315245	66315245	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttttttcttttaggtgAcattagacagttacccagta	10	18	6	7	0	2	2	0	1	2	1	2	2	2	2	1	1	1	2	1	1	4	8	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.1862A>T	p.Asp621Val	p.D621V	ENST00000247815	6/13	58	49	9	54	54	0	strelka-varscan-mutect	HELB,missense_variant,p.Asp621Val,ENST00000247815,NM_033647.3;HELB,missense_variant,p.Asp621Val,ENST00000545134,;HELB,missense_variant,p.Asp621Val,ENST00000542394,;HELB,missense_variant,p.Thr562Ser,ENST00000440906,;	T	ENST00000247815	Transcript	missense_variant	1921/12866	1862/3264	621/1087	D/V	gAc/gTc		1		1	HELB	HGNC	HGNC:17196	protein_coding	YES	CCDS8976.1	ENSP00000247815	Q8NG08		UPI000013CC2D	NM_033647.3	deleterious(0)		6/13		Gene3D:3.40.50.300,Pfam_domain:PF13604,Superfamily_domains:SSF52540,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	66315245	66315245	A	T	1	0	0	0	0	1	0	0	0	6927	289	10	4		4	HELB	12	66315245	Missense_Mutation	SNP	A	C3N-01071_TP	12646087	66315245	66960064	243	23230											
CFAP54	0	.	GRCh38	chr12	96651654	96651654	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcgggccttatggaactttActcaggaactacaaatactt	12	12	8	9	1	1	0	1	0	0	0	2	2	1	2	1	3	5	0	1	3	7	6	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.4939A>G	p.Thr1647Ala	p.T1647A	ENST00000524981	36/68	305	277	28	269	269	0	strelka-varscan-mutect	CFAP54,missense_variant,p.Thr1647Ala,ENST00000524981,NM_001306084.1;CFAP54,missense_variant,p.Thr553Ala,ENST00000637336,;CFAP54,downstream_gene_variant,,ENST00000550977,;CFAP54,non_coding_transcript_exon_variant,,ENST00000342887,;	G	ENST00000524981	Transcript	missense_variant	4962/9766	4939/9291	1647/3096	T/A	Act/Gct		1		1	CFAP54	HGNC	HGNC:26456	protein_coding	YES	CCDS76588.1	ENSP00000431759	Q96N23		UPI0001F77A4D	NM_001306084.1	tolerated(0.05)		36/68		hmmpanther:PTHR33487,hmmpanther:PTHR33487:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	71	96651654	96651654	A	G	1	0	0	0	0	1	0	0	0	3025	391	14	5		5	CFAP54	12	96651654	Missense_Mutation	SNP	A	C3N-01071_TP	30336409	96651654	36623655	244	23231											
TBX3	0	.	GRCh38	chr12	114674753	114674753	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgacgtggtggtggagatCttggccgcgtcgcaggcctc	4	9	16	12	5	1	1	0	0	1	1	4	3	2	1	3	5	0	1	3	5	0	1	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1182G>A	p.=	p.K394K	ENST00000257566	7/8	425	376	49	357	357	0	strelka-varscan-mutect	TBX3,synonymous_variant,p.=,ENST00000349155,NM_005996.3;TBX3,synonymous_variant,p.=,ENST00000257566,NM_016569.3;TBX3,downstream_gene_variant,,ENST00000548503,;	T	ENST00000257566	Transcript	synonymous_variant	1572/4208	1182/2232	394/743	K	aaG/aaA		1		-1	TBX3	HGNC	HGNC:11602	protein_coding	YES	CCDS9176.1	ENSP00000257566	O15119	A0A024RBL6	UPI0000136AA0	NM_016569.3			7/8		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF91,Pfam_domain:PF12598																	LOW	1	SNV	1			1										PASS		rs1242201658	.												T	2	4	71	114674753	114674753	C	T	1	0	0	0	0	0	0	0	1	16064	912	32	3		3	TBX3	12	114674753	Silent	SNP	C	C3N-01071_TP	18023099	114674753	18600556	245	23232											
FBXO21	0	.	GRCh38	chr12	117158079	117158079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaccttcaaaacaagacaGaaagactaaaagataatatt	22	7	5	7	0	1	4	1	0	0	4	1	4	1	4	1	0	2	1	1	0	8	5	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.1332C>T	p.=	p.F444F	ENST00000330622	10/12	141	127	14	166	166	0	strelka-mutect	FBXO21,synonymous_variant,p.=,ENST00000330622,NM_033624.2;FBXO21,synonymous_variant,p.=,ENST00000548840,;FBXO21,intron_variant,,ENST00000622495,NM_015002.2;FBXO21,intron_variant,,ENST00000427718,;FBXO21,intron_variant,,ENST00000550180,;FBXO21,upstream_gene_variant,,ENST00000547806,;	A	ENST00000330622	Transcript	synonymous_variant	1332/2906	1332/1887	444/628	F	ttC/ttT		1		-1	FBXO21	HGNC	HGNC:13592	protein_coding	YES	CCDS9184.1	ENSP00000328187	O94952	A0A024RBR2	UPI000013CF6D	NM_033624.2			10/12		hmmpanther:PTHR31350,hmmpanther:PTHR31350:SF7																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	71	117158079	117158079	G	A	1	0	0	0	0	0	0	0	1	5596	956	33	3		3	FBXO21	12	117158079	Silent	SNP	G	C3N-01071_TP	2483326	117158079	16117230	246	23233											
TMEM132D	0	.	GRCh38	chr12	129209528	129209528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcaacttgccttaatcaCgtcttcatcagacgatctac	10	13	6	12	2	6	1	4	0	2	1	6	2	6	1	1	0	3	0	1	0	3	4	rs756867549		C3N-01071_TP	C3N-01071_NB	C	C																c.1435G>T	p.Val479Leu	p.V479L	ENST00000422113	5/9	172	145	27	120	120	0	strelka-varscan-mutect	TMEM132D,missense_variant,p.Val479Leu,ENST00000422113,NM_133448.2;RP11-669N7.3,intron_variant,,ENST00000542578,;	A	ENST00000422113	Transcript	missense_variant	1762/5776	1435/3300	479/1099	V/L	Gtg/Ttg	rs756867549,COSM203566	1		-1	TMEM132D	HGNC	HGNC:29411	protein_coding	YES	CCDS9266.1	ENSP00000408581	Q14C87		UPI000023759C	NM_133448.2	deleterious(0)		5/9		Pfam_domain:PF16070,hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF2											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs756867549	.												A	3	1	71	129209528	129209528	C	A	1	0	0	0	0	1	0	0	0	16492	536	19	1		1	TMEM132D	12	129209528	Missense_Mutation	SNP	C	C3N-01071_TP	12051449	129209528	4065781	247	23234											
ZNF605	0	.	GRCh38	chr12	132933066	132933066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agattgctatagttctccaaCatcacatctctgtacaagtt	12	14	5	10	0	3	1	1	0	2	1	5	1	3	1	1	0	3	4	1	0	5	6	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.105G>T	p.Met35Ile	p.M35I	ENST00000392321	3/5	91	86	5	77	77	0	strelka-mutect	ZNF605,missense_variant,p.Met35Ile,ENST00000360187,NM_183238.3;ZNF605,missense_variant,p.Met35Ile,ENST00000392321,NM_001164715.1;CHFR,intron_variant,,ENST00000536932,;ZNF605,non_coding_transcript_exon_variant,,ENST00000331711,;ZNF605,non_coding_transcript_exon_variant,,ENST00000412621,;	A	ENST00000392321	Transcript	missense_variant	331/6156	105/2019	35/672	M/I	atG/atT		1		-1	ZNF605	HGNC	HGNC:28068	protein_coding	YES	CCDS53850.1	ENSP00000376135	Q86T29		UPI000058F1FC	NM_001164715.1	deleterious(0.03)		3/5		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF120,SMART_domains:SM00349																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	71	132933066	132933066	C	A	1	0	0	0	0	1	0	0	0	18606	478	17	2		2	ZNF605	12	132933066	Missense_Mutation	SNP	C	C3N-01071_TP	3723538	132933066	342243	248	23235											
ELF1	0	.	GRCh38	chr13	40943005	40943005	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaggtttgtttttgtgcttCccccacaacctggacactgc	6	14	8	13	0	1	0	1	0	0	0	2	1	2	1	3	2	3	3	3	2	1	4	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.753G>A	p.=	p.G251G	ENST00000239882	7/9	117	93	24	69	69	0	strelka-varscan-mutect	ELF1,synonymous_variant,p.=,ENST00000239882,NM_172373.3;ELF1,synonymous_variant,p.=,ENST00000635415,;ELF1,synonymous_variant,p.=,ENST00000625359,NM_001145353.1;ELF1,5_prime_UTR_variant,,ENST00000442101,;ELF1,3_prime_UTR_variant,,ENST00000498824,;	T	ENST00000239882	Transcript	synonymous_variant	1068/3566	753/1860	251/619	G	ggG/ggA		1		-1	ELF1	HGNC	HGNC:3316	protein_coding	YES	CCDS9374.1	ENSP00000239882	P32519	A0A024RDU6	UPI000007071F	NM_172373.3			7/9		Gene3D:1.10.10.10,Pfam_domain:PF00178,Prints_domain:PR00454,PROSITE_profiles:PS50061,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF156,SMART_domains:SM00413,Superfamily_domains:SSF46785																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	71	40943005	40943005	C	T	1	0	0	0	0	0	0	0	1	4886	842	30	3		3	ELF1	13	40943005	Silent	SNP	C	C3N-01071_TP		40943005	73421323	249	23236											
RNASEH2B	0	.	GRCh38	chr13	50927437	50927437	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgcttcaaagaagatgaAaaatgggctaatgtttgtaa	17	11	10	3	0	1	4	1	1	0	3	1	4	1	4	0	1	1	4	0	1	6	4	rs377417708		C3N-01071_TP	C3N-01071_NB	A	A																c.95A>C	p.Lys32Thr	p.K32T	ENST00000336617	2/11	302	258	44	319	319	0	strelka-varscan-mutect	RNASEH2B,missense_variant,p.Lys32Thr,ENST00000422660,NM_001142279.2;RNASEH2B,missense_variant,p.Lys32Thr,ENST00000336617,NM_024570.3;RNASEH2B,missense_variant,p.Lys2Thr,ENST00000611510,;RNASEH2B,missense_variant,p.Lys2Thr,ENST00000636524,;RNASEH2B,missense_variant,p.Lys2Thr,ENST00000637648,;RNASEH2B,upstream_gene_variant,,ENST00000495244,;RNASEH2B,upstream_gene_variant,,ENST00000459681,;	C	ENST00000336617	Transcript	missense_variant	494/1629	95/939	32/312	K/T	aAa/aCa	rs377417708	1		1	RNASEH2B	HGNC	HGNC:25671	protein_coding	YES	CCDS9425.1	ENSP00000337623	Q5TBB1		UPI000013CFE7	NM_024570.3	deleterious(0.03)		2/11		hmmpanther:PTHR13383:SF11,hmmpanther:PTHR13383,Pfam_domain:PF09468																	MODERATE	1	SNV	1			1										PASS		rs377417708	.												C	3	2	71	50927437	50927437	A	C	1	0	0	0	0	1	0	0	0	13592	14	1	5		5	RNASEH2B	13	50927437	Missense_Mutation	SNP	A	C3N-01071_TP	9984432	50927437	63436891	250	23237											
PCDH9	0	.	GRCh38	chr13	67226801	67226801	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggaggggaggggtcccaTtgtccctggcagttactgta	6	12	15	8	0	0	0	0	0	0	0	2	2	2	2	2	6	1	3	2	6	2	4	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.1640A>T	p.Asn547Ile	p.N547I	ENST00000377865	2/5	228	207	21	239	239	0	strelka-varscan-mutect	PCDH9,missense_variant,p.Asn547Ile,ENST00000377861,;PCDH9,missense_variant,p.Asn547Ile,ENST00000544246,NM_020403.4;PCDH9,missense_variant,p.Asn547Ile,ENST00000377865,NM_203487.2;PCDH9,missense_variant,p.Asn547Ile,ENST00000456367,;	A	ENST00000377865	Transcript	missense_variant	1814/5709	1640/3714	547/1237	N/I	aAt/aTt		1		-1	PCDH9	HGNC	HGNC:8661	protein_coding	YES	CCDS9444.1	ENSP00000367096	Q9HC56	X5D7N0	UPI00001FCE90	NM_203487.2	deleterious(0.01)		2/5		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF25,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	67226801	67226801	T	A	1	0	0	0	0	1	0	0	0	11605	1493	52	4		4	PCDH9	13	67226801	Missense_Mutation	SNP	T	C3N-01071_TP	16299364	67226801	47137527	251	23238											
MYCBP2	0	.	GRCh38	chr13	77205568	77205568	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaacacccatttttaagTcctgcatagctgccaaggta	11	12	7	11	0	0	0	0	0	0	0	1	0	1	0	3	1	5	4	3	1	5	6	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.3506A>T	p.Asp1169Val	p.D1169V	ENST00000544440	25/83	237	222	15	168	168	0	strelka-varscan-mutect	MYCBP2,missense_variant,p.Asp1169Val,ENST00000357337,NM_015057.4;MYCBP2,missense_variant,p.Asp1169Val,ENST00000544440,;	A	ENST00000544440	Transcript	missense_variant	3524/14664	3506/13923	1169/4640	D/V	gAc/gTc		1		-1	MYCBP2	HGNC	HGNC:23386	protein_coding	YES		ENSP00000444596	O75592		UPI0000212757		deleterious(0)		25/83																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	77205568	77205568	T	A	1	0	0	0	0	1	0	0	0	10018	1667	58	4		4	MYCBP2	13	77205568	Missense_Mutation	SNP	T	C3N-01071_TP	9978767	77205568	37158760	252	23239											
SLITRK1	0	.	GRCh38	chr13	83881313	83881313	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagtgagggaattgccatgCagaaataaatggtaaaactg	16	8	12	5	1	0	2	0	1	0	1	0	4	0	3	1	2	3	2	1	2	6	3	rs368351965		C3N-01071_TP	C3N-01071_NB	C	C																c.195G>C	p.=	p.L65L	ENST00000377084	1/1	568	401	167	371	371	0	strelka-varscan-mutect	SLITRK1,synonymous_variant,p.=,ENST00000377084,NM_052910.2,NM_001281503.1;	G	ENST00000377084	Transcript	synonymous_variant	1081/5189	195/2091	65/696	L	ctG/ctC	rs368351965,COSM4844947	1		-1	SLITRK1	HGNC	HGNC:20297	protein_coding	YES	CCDS9464.1	ENSP00000366288	Q96PX8		UPI0000035971	NM_052910.2,NM_001281503.1			1/1		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF33,Superfamily_domains:SSF52058											0,1						LOW	1	SNV			0,1	1										PASS		rs368351965	.												G	2	3	71	83881313	83881313	C	G	1	0	0	0	0	0	0	0	1	15033	697	25	4		4	SLITRK1	13	83881313	Silent	SNP	C	C3N-01071_TP	6675745	83881313	30483015	253	23240											
SLITRK6	0	.	GRCh38	chr13	85795667	85795667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgctgccagatgtaatgatCctgaaggatcctcatgttct	9	14	9	9	0	2	3	1	2	1	1	4	4	4	4	3	1	2	3	3	1	2	3	rs772627817		C3N-01071_TP	C3N-01071_NB	C	C																c.842G>C	p.Gly281Ala	p.G281A	ENST00000400286	2/2	265	238	27	203	203	0	strelka-varscan-mutect	SLITRK6,missense_variant,p.Gly281Ala,ENST00000400286,NM_032229.2;	G	ENST00000400286	Transcript	missense_variant	1441/4318	842/2526	281/841	G/A	gGa/gCa	rs772627817	1		-1	SLITRK6	HGNC	HGNC:23503	protein_coding	YES	CCDS41903.1	ENSP00000383143	Q9H5Y7		UPI000004C9D6	NM_032229.2	tolerated(0.32)		2/2																			MODERATE	1	SNV	1			1										PASS		rs772627817	.												G	3	3	71	85795667	85795667	C	G	1	0	0	0	0	1	0	0	0	15038	855	30	4		4	SLITRK6	13	85795667	Missense_Mutation	SNP	C	C3N-01071_TP	1914354	85795667	28568661	254	23241											
RNASE2	0	.	GRCh38	chr14	20955870	20955870	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaacctccacagtttacCtgggctcaatggtttgaaac	11	11	8	11	0	2	1	2	1	0	0	3	1	3	1	3	2	3	3	3	2	4	3	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.99C>A	p.=	p.T33T	ENST00000304625	2/2	225	182	43	251	251	0	strelka-varscan-mutect	RNASE2,synonymous_variant,p.=,ENST00000304625,NM_002934.2;	A	ENST00000304625	Transcript	synonymous_variant	189/755	99/486	33/161	T	acC/acA		1		1	RNASE2	HGNC	HGNC:10045	protein_coding	YES	CCDS9561.1	ENSP00000303276	P10153	W0UV60	UPI000004D2F8	NM_002934.2			2/2		Gene3D:3.10.130.10,PD000535,hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF3,SMART_domains:SM00092,Superfamily_domains:SSF54076																	LOW	1	SNV	1			1										PASS		rs1297226667	.												A	2	1	71	20955870	20955870	C	A	1	0	0	0	0	0	0	0	1	13583	668	24	2		2	RNASE2	14	20955870	Silent	SNP	C	C3N-01071_TP		20955870	86087848	255	23242											
DACT1	0	.	GRCh38	chr14	58638305	58638305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggggcgctggcgggagaagGgcgaggcagacaccgagcgg	9	1	22	9	5	0	2	0	0	0	2	0	5	0	2	1	7	1	2	1	7	1	0	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.103G>A	p.Gly35Ser	p.G35S	ENST00000335867	1/4	41	37	4	54	54	0	strelka-mutect	DACT1,missense_variant,p.Gly35Ser,ENST00000395153,NM_001079520.1;DACT1,missense_variant,p.Gly35Ser,ENST00000335867,NM_016651.5;DACT1,intron_variant,,ENST00000556859,;DACT1,intron_variant,,ENST00000421793,;DACT1,upstream_gene_variant,,ENST00000541264,;DACT1,intron_variant,,ENST00000555845,;	A	ENST00000335867	Transcript	missense_variant	127/2571	103/2511	35/836	G/S	Ggc/Agc		1		1	DACT1	HGNC	HGNC:17748	protein_coding	YES	CCDS9736.1	ENSP00000337439	Q9NYF0		UPI000013E4D3	NM_016651.5	deleterious(0.05)		1/4		hmmpanther:PTHR15919:SF12,hmmpanther:PTHR15919																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	71	58638305	58638305	G	A	1	0	0	0	0	1	0	0	0	4023	1232	43	3		3	DACT1	14	58638305	Missense_Mutation	SNP	G	C3N-01071_TP	37682435	58638305	48405413	256	23243											
KCNH5	0	.	GRCh38	chr14	62981241	62981241	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttgtttatactgaggaagGatatctgatcccagctgaag	11	13	10	7	0	2	3	0	3	2	0	3	5	3	5	1	2	2	2	1	2	5	5			C3N-01071_TP	C3N-01071_NB	G	G																c.573C>A	p.=	p.I191I	ENST00000322893	6/11	211	200	11	267	266	1	strelka-varscan-mutect	KCNH5,synonymous_variant,p.=,ENST00000322893,NM_139318.4;KCNH5,synonymous_variant,p.=,ENST00000420622,NM_172375.2;KCNH5,synonymous_variant,p.=,ENST00000394968,;KCNH5,non_coding_transcript_exon_variant,,ENST00000394964,;	T	ENST00000322893	Transcript	synonymous_variant	842/11290	573/2967	191/988	I	atC/atA	COSM5596905,COSM5596906	1		-1	KCNH5	HGNC	HGNC:6254	protein_coding	YES	CCDS9756.1	ENSP00000321427	Q8NCM2		UPI0000039E2D	NM_139318.4			6/11		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF533,Prints_domain:PR01464											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	71	62981241	62981241	G	T	1	0	0	0	0	0	0	0	1	7951	1164	41	2		2	KCNH5	14	62981241	Silent	SNP	G	C3N-01071_TP	4342936	62981241	44062477	257	23244											
GPHN	0	.	GRCh38	chr14	66922767	66922767	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgatgaacttgaagatttGccttccccacctccccctct	8	12	5	16	0	1	4	0	3	1	1	3	4	3	4	6	0	2	0	6	0	2	3	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.558G>C	p.Leu186Phe	p.L186F	ENST00000478722	7/23	238	225	13	237	237	0	strelka-mutect	GPHN,missense_variant,p.Leu186Phe,ENST00000478722,NM_020806.4;GPHN,missense_variant,p.Leu186Phe,ENST00000315266,NM_001024218.1;GPHN,missense_variant,p.Leu199Phe,ENST00000543237,;GPHN,missense_variant,p.Leu168Phe,ENST00000459628,;GPHN,missense_variant,p.Leu119Phe,ENST00000555456,;GPHN,non_coding_transcript_exon_variant,,ENST00000544752,;GPHN,downstream_gene_variant,,ENST00000556633,;	C	ENST00000478722	Transcript	missense_variant	1679/4297	558/2310	186/769	L/F	ttG/ttC		1		1	GPHN	HGNC	HGNC:15465	protein_coding	YES	CCDS9777.1	ENSP00000417901	Q9NQX3		UPI0000072592	NM_020806.4	deleterious(0.04)		7/23		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	71	66922767	66922767	G	C	1	0	0	0	0	1	0	0	0	6512	1310	46	4		4	GPHN	14	66922767	Missense_Mutation	SNP	G	C3N-01071_TP	3941526	66922767	40120951	258	23245											
ACOT2	0	.	GRCh38	chr14	73569607	73569607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgacactcttggcgagctgGacctggagcgcgcgcccgcg	5	5	15	16	7	1	0	0	0	1	0	1	4	1	2	3	3	2	1	3	3	0	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.367G>T	p.Asp123Tyr	p.D123Y	ENST00000238651	1/3	249	235	14	226	226	0	varscan-mutect	ACOT2,missense_variant,p.Asp123Tyr,ENST00000238651,NM_006821.5;ACOT2,missense_variant,p.Asp61Tyr,ENST00000622407,;ACOT2,missense_variant,p.Asp103Tyr,ENST00000613168,;ACOT2,upstream_gene_variant,,ENST00000557857,;ACOT2,intron_variant,,ENST00000538782,;NT5CP1,downstream_gene_variant,,ENST00000554092,;	T	ENST00000238651	Transcript	missense_variant	549/1774	367/1452	123/483	D/Y	Gac/Tac		1		1	ACOT2	HGNC	HGNC:18431	protein_coding	YES	CCDS9816.1	ENSP00000238651	P49753		UPI000013CA4E	NM_006821.5	deleterious(0)		1/3		hmmpanther:PTHR10824,hmmpanther:PTHR10824:SF16,PIRSF_domain:PIRSF016521,Pfam_domain:PF04775																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	73569607	73569607	G	T	1	0	0	0	0	1	0	0	0	194	1174	41	2		2	ACOT2	14	73569607	Missense_Mutation	SNP	G	C3N-01071_TP	6646840	73569607	33474111	259	23246											
ESRRB	0	.	GRCh38	chr14	76498377	76498377	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagacggccgccaaggccgtGcagcacttctatagcgtcaa	10	6	11	14	4	2	1	1	0	1	1	2	1	2	1	3	2	3	2	3	2	4	3	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.1221G>T	p.=	p.V407V	ENST00000509242	7/9	556	521	35	469	469	0	strelka-varscan-mutect	ESRRB,synonymous_variant,p.=,ENST00000509242,;ESRRB,synonymous_variant,p.=,ENST00000380887,NM_004452.3;ESRRB,synonymous_variant,p.=,ENST00000512784,;ESRRB,synonymous_variant,p.=,ENST00000556177,;RP11-187O7.3,intron_variant,,ENST00000554926,;ESRRB,synonymous_variant,p.=,ENST00000505752,;ESRRB,upstream_gene_variant,,ENST00000611036,;	T	ENST00000509242	Transcript	synonymous_variant	1429/2849	1221/1527	407/508	V	gtG/gtT		1		1	ESRRB	HGNC	HGNC:3473	protein_coding	YES	CCDS9850.2	ENSP00000422488	O95718		UPI000003157B				7/9		Gene3D:1.10.565.10,Pfam_domain:PF00104,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,Prints_domain:PR00398,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF23,Superfamily_domains:SSF48508																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	71	76498377	76498377	G	T	1	0	0	0	0	0	0	0	1	5123	1306	46	2		2	ESRRB	14	76498377	Silent	SNP	G	C3N-01071_TP	2928770	76498377	30545341	260	23247											
TNFAIP2	0	.	GRCh38	chr14	103135348	103135348	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcccctattttcccttatAaaggttggttagcttttcct	6	17	7	11	1	0	0	0	0	0	0	2	0	2	0	4	3	1	3	4	3	5	9	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.1953A>T	p.=	p.I651I	ENST00000560869	12/12	55	46	9	77	77	0	strelka-varscan-mutect	TNFAIP2,synonymous_variant,p.=,ENST00000560869,;TNFAIP2,synonymous_variant,p.=,ENST00000333007,NM_006291.2;TNFAIP2,synonymous_variant,p.=,ENST00000559255,;TNFAIP2,synonymous_variant,p.=,ENST00000560670,;NDUFB4P11,upstream_gene_variant,,ENST00000600530,;TNFAIP2,upstream_gene_variant,,ENST00000561217,;TNFAIP2,3_prime_UTR_variant,,ENST00000559406,;TNFAIP2,3_prime_UTR_variant,,ENST00000560562,;TNFAIP2,downstream_gene_variant,,ENST00000560428,;TNFAIP2,downstream_gene_variant,,ENST00000561156,;NDUFB4P11,upstream_gene_variant,,ENST00000560510,;	T	ENST00000560869	Transcript	synonymous_variant	2592/4683	1953/1965	651/654	I	atA/atT		1		1	TNFAIP2	HGNC	HGNC:11895	protein_coding	YES	CCDS9979.1	ENSP00000452634	Q03169		UPI0000164A41				12/12		hmmpanther:PTHR21292:SF4,hmmpanther:PTHR21292																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	71	103135348	103135348	A	T	1	0	0	0	0	0	0	0	1	16747	352	13	4		4	TNFAIP2	14	103135348	Silent	SNP	A	C3N-01071_TP	26636971	103135348	3908370	261	23248											
AHNAK2	0	.	GRCh38	chr14	104944665	104944665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcagagacacctcgacatCggggactctcacttctgcct	8	8	11	14	2	2	1	1	0	2	1	5	4	2	2	2	3	1	1	2	3	0	1	rs371361988		C3N-01071_TP	C3N-01071_NB	C	C																c.10786G>A	p.Asp3596Asn	p.D3596N	ENST00000333244	7/7	439	378	61	348	348	0	strelka-varscan-mutect	AHNAK2,missense_variant,p.Asp3596Asn,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	T	ENST00000333244	Transcript	missense_variant	10906/18254	10786/17388	3596/5795	D/N	Gat/Aat	rs371361988	1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	tolerated(0.06)		7/7		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37																	MODERATE	1	SNV	5			1										PASS		rs371361988	.												T	3	4	71	104944665	104944665	C	T	1	0	0	0	0	1	0	0	0	492	884	31	1		1	AHNAK2	14	104944665	Missense_Mutation	SNP	C	C3N-01071_TP	1809317	104944665	2099053	262	23249											
NIPA1	0	.	GRCh38	chr15	22786680	22786680	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggactgcagctgcggcagcGgcggcggcggcggcggcggc	3	2	23	13	8	0	0	0	0	0	0	0	1	0	1	0	9	4	3	0	9	0	0			C3N-01071_TP	C3N-01071_NB	G	G																c.24G>A	p.=	p.A8A	ENST00000337435	1/5	16	11	5	17	17	0	varscan-mutect	NIPA1,synonymous_variant,p.=,ENST00000337435,NM_144599.4;NIPA1,intron_variant,,ENST00000437912,;NIPA1,intron_variant,,ENST00000561183,NM_001142275.1;NIPA1,intron_variant,,ENST00000560069,;NIPA1,upstream_gene_variant,,ENST00000559448,;NIPA1,upstream_gene_variant,,ENST00000557930,;NIPA1,upstream_gene_variant,,ENST00000560105,;	A	ENST00000337435	Transcript	synonymous_variant	49/6567	24/990	8/329	A	gcG/gcA	COSM1608161	1		1	NIPA1	HGNC	HGNC:17043	protein_coding	YES	CCDS73691.1	ENSP00000337452	Q7RTP0		UPI00001D9756	NM_144599.4			1/5		Low_complexity_(Seg):seg											1						LOW	1	SNV	1		1	1										PASS		rs1277721817	.												A	2	1	71	22786680	22786680	G	A	1	0	0	0	0	0	0	0	1	10457	1103	39	1		1	NIPA1	15	22786680	Silent	SNP	G	C3N-01071_TP		22786680	79204509	263	23250											
FAM189A1	0	.	GRCh38	chr15	29570544	29570544	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggcaggagtggcggacgcgGgccgaggtggtgagcgccag	6	3	23	9	5	0	1	0	1	0	0	0	4	0	3	2	7	1	1	2	7	0	0	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.180C>T	p.=	p.A60A	ENST00000261275	1/11	102	84	18	111	111	0	strelka-varscan-mutect	FAM189A1,synonymous_variant,p.=,ENST00000261275,NM_015307.1;FAM189A1,upstream_gene_variant,,ENST00000560050,;	A	ENST00000261275	Transcript	synonymous_variant	180/4705	180/1620	60/539	A	gcC/gcT		1		-1	FAM189A1	HGNC	HGNC:29075	protein_coding	YES	CCDS45198.1	ENSP00000261275	O60320		UPI0001641C10	NM_015307.1			1/11		Pfam_domain:PF04103,hmmpanther:PTHR17615,hmmpanther:PTHR17615:SF6																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	71	29570544	29570544	G	A	1	0	0	0	0	0	0	0	1	5367	1219	43	3		3	FAM189A1	15	29570544	Silent	SNP	G	C3N-01071_TP	6783864	29570544	72420645	264	23251											
SPRED1	0	.	GRCh38	chr15	38351483	38351483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgtatgtcagactcagaggGagatttttctgatccctgtt	8	16	10	7	0	3	4	2	1	1	3	4	5	4	4	1	1	0	2	1	1	1	5	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.1154G>C	p.Gly385Ala	p.G385A	ENST00000299084	7/7	335	289	46	341	341	0	strelka-varscan-mutect	SPRED1,missense_variant,p.Gly385Ala,ENST00000299084,NM_152594.2;	C	ENST00000299084	Transcript	missense_variant	2014/7780	1154/1335	385/444	G/A	gGa/gCa		1		1	SPRED1	HGNC	HGNC:20249	protein_coding	YES	CCDS32193.1	ENSP00000299084	Q7Z699		UPI0000072FBD	NM_152594.2	deleterious(0)		7/7		PROSITE_profiles:PS51227,hmmpanther:PTHR11202,hmmpanther:PTHR11202:SF18,Pfam_domain:PF05210																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	71	38351483	38351483	G	C	1	0	0	0	0	1	0	0	0	15446	1174	41	4		4	SPRED1	15	38351483	Missense_Mutation	SNP	G	C3N-01071_TP	8780939	38351483	63639706	265	23252											
PLA2G4F	0	.	GRCh38	chr15	42147649	42147649	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagacccagagaccccactCaggtaggtcacagtgtctag	11	7	11	12	0	3	2	2	0	1	2	3	3	3	2	3	2	0	2	3	2	3	3	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1173G>C	p.=	p.L391L	ENST00000397272	12/20	203	180	23	185	185	0	strelka-varscan-mutect	PLA2G4F,synonymous_variant,p.=,ENST00000397272,NM_213600.3;PLA2G4F,3_prime_UTR_variant,,ENST00000569985,;PLA2G4F,3_prime_UTR_variant,,ENST00000290497,;PLA2G4F,non_coding_transcript_exon_variant,,ENST00000561893,;PLA2G4F,upstream_gene_variant,,ENST00000562320,;PLA2G4F,downstream_gene_variant,,ENST00000561627,;	G	ENST00000397272	Transcript	synonymous_variant	1260/5587	1173/2550	391/849	L	ctG/ctC		1		-1	PLA2G4F	HGNC	HGNC:27396	protein_coding	YES	CCDS32204.1	ENSP00000380442	Q68DD2		UPI0000160965	NM_213600.3			12/20		Gene3D:3.40.1090.10,Pfam_domain:PF01735,PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF22,SMART_domains:SM00022,Superfamily_domains:SSF52151																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	71	42147649	42147649	C	G	1	0	0	0	0	0	0	0	1	12102	813	29	4		4	PLA2G4F	15	42147649	Silent	SNP	C	C3N-01071_TP	3796166	42147649	59843540	266	23253											
FBN1	0	.	GRCh38	chr15	48465589	48465589	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcacacactcgtgtatcttCattcaggtagtagccggttg	9	13	9	10	2	4	0	3	0	1	0	5	0	4	0	1	2	1	4	1	2	3	6	rs749438833		C3N-01071_TP	C3N-01071_NB	C	C																c.4921G>C	p.Glu1641Gln	p.E1641Q	ENST00000316623	40/66	339	316	23	325	325	0	strelka-mutect	FBN1,missense_variant,p.Glu1641Gln,ENST00000316623,NM_000138.4;FBN1,missense_variant,p.Glu77Gln,ENST00000559133,;FBN1,3_prime_UTR_variant,,ENST00000537463,;	G	ENST00000316623	Transcript	missense_variant	5377/11756	4921/8616	1641/2871	E/Q	Gaa/Caa	rs749438833	1		-1	FBN1	HGNC	HGNC:3603	protein_coding	YES	CCDS32232.1	ENSP00000325527	P35555		UPI0000EE4EBC	NM_000138.4	tolerated(0.08)		40/66		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		rs749438833	.												G	3	3	71	48465589	48465589	C	G	1	0	0	0	0	1	0	0	0	5565	835	29	4		4	FBN1	15	48465589	Missense_Mutation	SNP	C	C3N-01071_TP	6317940	48465589	53525600	267	23254											
ITGA11	0	.	GRCh38	chr15	68357233	68357233	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagcttccaccacatcttTtacagacctgtagtcgttga	9	12	8	12	1	1	2	0	1	1	1	3	2	2	2	3	1	2	4	3	1	2	5	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.667A>G	p.Lys223Glu	p.K223E	ENST00000315757	7/30	202	183	19	230	230	0	strelka-varscan-mutect	ITGA11,missense_variant,p.Lys223Glu,ENST00000423218,;ITGA11,missense_variant,p.Lys223Glu,ENST00000315757,NM_001004439.1;ITGA11,non_coding_transcript_exon_variant,,ENST00000562826,;ITGA11,non_coding_transcript_exon_variant,,ENST00000568677,;ITGA11,non_coding_transcript_exon_variant,,ENST00000565868,;	C	ENST00000315757	Transcript	missense_variant	763/3955	667/3567	223/1188	K/E	Aaa/Gaa		1		-1	ITGA11	HGNC	HGNC:6136	protein_coding	YES	CCDS45291.1	ENSP00000327290	Q9UKX5		UPI00001FE74D	NM_001004439.1	tolerated(1)		7/30		PROSITE_profiles:PS50234,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	71	68357233	68357233	T	C	1	0	0	0	0	1	0	0	0	7781	1850	64	5		5	ITGA11	15	68357233	Missense_Mutation	SNP	T	C3N-01071_TP	19891644	68357233	33633956	268	23255											
ADPGK	0	.	GRCh38	chr15	72752816	72752816	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaagagagagaagagTgaggtccagaggctgactgg	13	5	17	6	0	0	6	0	2	0	4	2	9	2	7	2	4	0	1	2	4	2	0	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.1016A>T	p.His339Leu	p.H339L	ENST00000311669	7/7	165	154	11	160	160	0	strelka-varscan-mutect	ADPGK,missense_variant,p.His339Leu,ENST00000311669,NM_031284.4;ADPGK,missense_variant,p.His65Leu,ENST00000456471,;ADPGK,3_prime_UTR_variant,,ENST00000563907,;ADPGK,downstream_gene_variant,,ENST00000565814,;ADPGK,downstream_gene_variant,,ENST00000567733,;ADPGK,3_prime_UTR_variant,,ENST00000567941,;ADPGK,3_prime_UTR_variant,,ENST00000569534,;ADPGK,3_prime_UTR_variant,,ENST00000569693,;ADPGK,3_prime_UTR_variant,,ENST00000569517,;ADPGK,non_coding_transcript_exon_variant,,ENST00000562621,;	A	ENST00000311669	Transcript	missense_variant	1110/2557	1016/1491	339/496	H/L	cAc/cTc		1		-1	ADPGK	HGNC	HGNC:25250	protein_coding	YES	CCDS42057.1	ENSP00000312250	Q9BRR6		UPI0000039E98	NM_031284.4	deleterious(0)		7/7		Gene3D:3.40.1190.20,Pfam_domain:PF04587,PROSITE_profiles:PS51255,hmmpanther:PTHR21208,hmmpanther:PTHR21208:SF0,Superfamily_domains:SSF53613																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	71	72752816	72752816	T	A	1	0	0	0	0	1	0	0	0	405	1696	59	4		4	ADPGK	15	72752816	Missense_Mutation	SNP	T	C3N-01071_TP	4395583	72752816	29238373	269	23256											
CEMIP	0	.	GRCh38	chr15	80933337	80933337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgttccatgacgtcgaCggctccgtgtccgagtaccc	5	11	11	14	5	1	1	0	1	1	0	5	3	4	1	4	1	1	3	4	1	1	2	rs773913269		C3N-01071_TP	C3N-01071_NB	C	C																c.2886C>A	p.Asp962Glu	p.D962E	ENST00000394685	23/30	480	432	48	419	419	0	strelka-varscan-mutect	CEMIP,missense_variant,p.Asp962Glu,ENST00000394685,NM_001293298.1;CEMIP,missense_variant,p.Asp962Glu,ENST00000356249,NM_001293304.1;CEMIP,missense_variant,p.Asp962Glu,ENST00000220244,NM_018689.2;CEMIP,missense_variant,p.Asp962Glu,ENST00000611615,;CEMIP,upstream_gene_variant,,ENST00000560027,;RP11-351M8.2,intron_variant,,ENST00000560873,;CEMIP,upstream_gene_variant,,ENST00000495041,;	A	ENST00000394685	Transcript	missense_variant	3305/7357	2886/4086	962/1361	D/E	gaC/gaA	rs773913269,COSM4974047	1		1	CEMIP	HGNC	HGNC:29213	protein_coding	YES	CCDS10315.1	ENSP00000378177	Q8WUJ3		UPI00001D7799	NM_001293298.1	deleterious(0)		23/30		hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF15,Superfamily_domains:SSF51126											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs773913269	.												A	3	1	71	80933337	80933337	C	A	1	0	0	0	0	1	0	0	0	2931	535	19	1		1	CEMIP	15	80933337	Missense_Mutation	SNP	C	C3N-01071_TP	8180521	80933337	21057852	270	23257											
BTBD1	0	.	GRCh38	chr15	83030141	83030141	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatataacagatacctgatTcgatcactcgtcccactgta	13	11	5	12	2	1	2	1	1	0	1	4	3	2	2	2	0	2	1	2	0	5	5	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.1050A>G	p.=	p.R350R	ENST00000261721	5/8	245	232	13	292	292	0	strelka-varscan-mutect	BTBD1,synonymous_variant,p.=,ENST00000261721,NM_025238.3;BTBD1,synonymous_variant,p.=,ENST00000379403,NM_001011885.1;RP11-382A20.5,intron_variant,,ENST00000566841,;RP11-382A20.6,intron_variant,,ENST00000568441,;RP11-382A20.7,intron_variant,,ENST00000570202,;BTBD1,non_coding_transcript_exon_variant,,ENST00000560015,;BTBD1,3_prime_UTR_variant,,ENST00000559652,;BTBD1,non_coding_transcript_exon_variant,,ENST00000558344,;	C	ENST00000261721	Transcript	synonymous_variant	1253/3297	1050/1449	350/482	R	cgA/cgG		1		-1	BTBD1	HGNC	HGNC:1120	protein_coding	YES	CCDS10322.1	ENSP00000261721	Q9H0C5	A0A024R224	UPI00000012BE	NM_025238.3			5/8		hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF15,Pfam_domain:PF08005																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	71	83030141	83030141	T	C	1	0	0	0	0	0	0	0	1	1712	1797	62	5		5	BTBD1	15	83030141	Silent	SNP	T	C3N-01071_TP	2096804	83030141	18961048	271	23258											
SEC11A	0	.	GRCh38	chr15	84680776	84680776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgtttatagaggcctCggtcatcaaccgcattatta	9	14	8	10	2	2	1	2	0	0	1	4	1	3	1	3	2	1	2	3	2	5	6	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.368G>T	p.Arg123Leu	p.R123L	ENST00000558134	4/5	108	101	7	120	120	0	strelka-varscan-mutect	SEC11A,missense_variant,p.Arg123Leu,ENST00000268220,NM_014300.3;SEC11A,missense_variant,p.Arg73Leu,ENST00000559729,NM_001271921.1;SEC11A,missense_variant,p.Arg97Leu,ENST00000455959,NM_001271918.1;SEC11A,missense_variant,p.Arg123Leu,ENST00000560266,NM_001271920.1;SEC11A,missense_variant,p.Arg123Leu,ENST00000558134,NM_001271922.1;SEC11A,missense_variant,p.Arg97Leu,ENST00000558196,;SEC11A,intron_variant,,ENST00000558217,NM_001271919.1;SEC11A,missense_variant,p.Arg123Leu,ENST00000560409,;	A	ENST00000558134	Transcript	missense_variant	382/971	368/558	123/185	R/L	cGa/cTa		1		-1	SEC11A	HGNC	HGNC:17718	protein_coding	YES	CCDS61743.1	ENSP00000452697	P67812		UPI00022F86B3	NM_001271922.1	tolerated(0.14)		4/5		hmmpanther:PTHR10806,hmmpanther:PTHR10806:SF9,PROSITE_patterns:PS00761,TIGRFAM_domain:TIGR02228,Gene3D:2.10.109.10,Superfamily_domains:SSF51306																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	71	84680776	84680776	C	A	1	0	0	0	0	1	0	0	0	14254	884	31	1		1	SEC11A	15	84680776	Missense_Mutation	SNP	C	C3N-01071_TP	1650635	84680776	17310413	272	23259											
OR4F6	0	.	GRCh38	chr15	101806201	101806201	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcagtgattcagttggCttttgttgtagacctgctgt	6	17	10	8	0	3	2	3	1	0	1	3	2	3	2	1	1	1	5	1	1	1	6	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.482C>A	p.Ala161Asp	p.A161D	ENST00000328882	1/1	136	123	13	164	164	0	strelka-varscan-mutect	OR4F6,missense_variant,p.Ala161Asp,ENST00000328882,NM_001005326.1;OR4F15,intron_variant,,ENST00000536946,;	A	ENST00000328882	Transcript	missense_variant	503/988	482/939	161/312	A/D	gCt/gAt		1		1	OR4F6	HGNC	HGNC:15372	protein_coding	YES	CCDS32341.1	ENSP00000327525	Q8NGB9	A0A126GV96	UPI0000041BF4	NM_001005326.1	deleterious_low_confidence(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF441,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	71	101806201	101806201	C	A	1	0	0	0	0	1	0	0	0	11143	797	28	2		2	OR4F6	15	101806201	Missense_Mutation	SNP	C	C3N-01071_TP	17125425	101806201	184988	273	23260											
CCDC154	0	.	GRCh38	chr16	1438889	1438889	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaccggctctccagctCgccccgcaggctgccctcca	4	6	8	23	3	1	0	0	0	1	0	5	0	3	0	7	2	2	4	7	2	0	0	rs867487247		C3N-01071_TP	C3N-01071_NB	C	C																c.832G>T	p.Glu278Ter	p.E278*	ENST00000389176	8/17	131	116	15	104	104	0	strelka-varscan-mutect	CCDC154,stop_gained,p.Glu133Ter,ENST00000409671,;CCDC154,stop_gained,p.Glu278Ter,ENST00000389176,NM_001143980.1;LA16c-312E8.4,non_coding_transcript_exon_variant,,ENST00000624543,;CCDC154,upstream_gene_variant,,ENST00000483702,;CCDC154,upstream_gene_variant,,ENST00000463299,;	A	ENST00000389176	Transcript	stop_gained	999/2212	832/2025	278/674	E/*	Gag/Tag	rs867487247	1		-1	CCDC154	HGNC	HGNC:34454	protein_coding	YES		ENSP00000373828	A6NI56		UPI000178DF39	NM_001143980.1			8/17		hmmpanther:PTHR35153,Pfam_domain:PF15450																	HIGH	1	SNV	5			1										PASS		rs867487247	.												A	4	1	71	1438889	1438889	C	A	1	0	0	0	0	0	1	0	0	2475	893	31	1		1	CCDC154	16	1438889	Nonsense_Mutation	SNP	C	C3N-01071_TP		1438889	88899456	274	23261											
CASKIN1	0	.	GRCh38	chr16	2180227	2180227	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatggcctctttgtgtttCactgaggccagcacggtggc	5	11	13	12	2	2	1	1	1	1	0	2	2	2	1	3	4	1	2	3	4	0	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.3141G>T	p.=	p.V1047V	ENST00000343516	18/20	205	194	11	191	191	0	strelka-varscan-mutect	CASKIN1,synonymous_variant,p.=,ENST00000343516,NM_020764.3;TRAF7,downstream_gene_variant,,ENST00000326181,NM_032271.2;CASKIN1,downstream_gene_variant,,ENST00000564289,;	A	ENST00000343516	Transcript	synonymous_variant	3234/5759	3141/4296	1047/1431	V	gtG/gtT		1		-1	CASKIN1	HGNC	HGNC:20879	protein_coding	YES	CCDS42103.1	ENSP00000345436	Q8WXD9		UPI0000073A3B	NM_020764.3			18/20																			LOW		SNV	5			1										PASS		.	.												A	2	1	71	2180227	2180227	C	A	1	0	0	0	0	0	0	0	1	2366	813	29	2		2	CASKIN1	16	2180227	Silent	SNP	C	C3N-01071_TP	741338	2180227	88158118	275	23262											
C16orf59	0	.	GRCh38	chr16	2462233	2462233	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttcctccagaacatgcaGacagctgtatccttgctggg	9	10	10	12	0	0	2	0	0	0	2	3	2	3	2	3	1	4	5	3	1	2	3			C3N-01071_TP	C3N-01071_NB	G	G																c.744G>A	p.=	p.Q248Q	ENST00000361837	6/10	212	195	17	210	210	0	strelka-varscan-mutect	C16orf59,synonymous_variant,p.=,ENST00000569496,;C16orf59,synonymous_variant,p.=,ENST00000563531,;C16orf59,synonymous_variant,p.=,ENST00000483320,;C16orf59,synonymous_variant,p.=,ENST00000361837,NM_025108.2;C16orf59,synonymous_variant,p.=,ENST00000567489,;C16orf59,synonymous_variant,p.=,ENST00000568753,;CCNF,downstream_gene_variant,,ENST00000397066,NM_001761.2;RP11-715J22.4,upstream_gene_variant,,ENST00000566085,;RP11-715J22.4,upstream_gene_variant,,ENST00000565827,;MIR6768,upstream_gene_variant,,ENST00000610734,;RP11-715J22.2,downstream_gene_variant,,ENST00000563775,;C16orf59,missense_variant,p.Arg143Lys,ENST00000565716,;C16orf59,non_coding_transcript_exon_variant,,ENST00000569994,;C16orf59,non_coding_transcript_exon_variant,,ENST00000566580,;CCNF,downstream_gene_variant,,ENST00000293968,NM_001323538.1;C16orf59,downstream_gene_variant,,ENST00000569664,;C16orf59,downstream_gene_variant,,ENST00000562253,;C16orf59,downstream_gene_variant,,ENST00000569665,;C16orf59,downstream_gene_variant,,ENST00000565537,;	A	ENST00000361837	Transcript	synonymous_variant	809/1662	744/1302	248/433	Q	caG/caA	COSM3508058	1		1	C16orf59	HGNC	HGNC:25849	protein_coding	YES	CCDS10468.2	ENSP00000355022	Q7L2K0		UPI000059D2F3	NM_025108.2			6/10		Pfam_domain:PF15764,hmmpanther:PTHR14870											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	71	2462233	2462233	G	A	1	0	0	0	0	0	0	0	1	1860	933	33	3		3	C16orf59	16	2462233	Silent	SNP	G	C3N-01071_TP	282006	2462233	87876112	276	23263											
XYLT1	0	.	GRCh38	chr16	17470746	17470746	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgtgagcgccgcgagcagCgccgagtgcgagcgccgggc	6	2	18	15	9	0	1	0	1	0	0	0	4	0	1	4	1	5	1	4	1	0	0	rs779580489		C3N-01071_TP	C3N-01071_NB	C	C																c.51G>T	p.=	p.A17A	ENST00000261381	1/12	75	56	19	65	65	0	strelka-varscan-mutect	XYLT1,synonymous_variant,p.=,ENST00000261381,NM_022166.3;	A	ENST00000261381	Transcript	synonymous_variant	136/9891	51/2880	17/959	A	gcG/gcT	rs779580489	1		-1	XYLT1	HGNC	HGNC:15516	protein_coding	YES	CCDS10569.1	ENSP00000261381	Q86Y38		UPI000000DCCE	NM_022166.3			1/12		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		rs779580489	.												A	2	1	71	17470746	17470746	C	A	1	0	0	0	0	0	0	0	1	18022	755	27	1		1	XYLT1	16	17470746	Silent	SNP	C	C3N-01071_TP	15008513	17470746	72867599	277	23264											
VWA3A	0	.	GRCh38	chr16	22126227	22126227	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaattccatgtacattattCatatccagcactccctgcgg	10	12	5	14	1	1	0	1	0	0	0	4	0	4	0	4	1	3	2	4	1	4	5	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1582C>G	p.His528Asp	p.H528D	ENST00000389398	17/34	183	164	19	253	253	0	strelka-varscan-mutect	VWA3A,missense_variant,p.His528Asp,ENST00000389398,NM_173615.4;VWA3A,missense_variant,p.His549Asp,ENST00000568328,;VWA3A,missense_variant,p.His138Asp,ENST00000299840,;VWA3A,non_coding_transcript_exon_variant,,ENST00000566668,;	G	ENST00000389398	Transcript	missense_variant	1678/4600	1582/3555	528/1184	H/D	Cat/Gat		1		1	VWA3A	HGNC	HGNC:27088	protein_coding	YES	CCDS45441.1	ENSP00000374049	A6NCI4		UPI0001663067	NM_173615.4	deleterious(0)		17/34		hmmpanther:PTHR10338:SF95,hmmpanther:PTHR10338,Pfam_domain:PF13768,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	71	22126227	22126227	C	G	1	0	0	0	0	1	0	0	0	17794	826	29	4		4	VWA3A	16	22126227	Missense_Mutation	SNP	C	C3N-01071_TP	4655481	22126227	68212118	278	23265											
PRKCB	0	.	GRCh38	chr16	24214813	24214813	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaacccgaagtcaagagCtaagtagatgtgtagatctc	15	10	9	7	1	2	3	1	0	1	3	3	4	2	3	1	0	2	3	1	0	7	4	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.2019C>T	p.=	p.S673S	ENST00000303531	17/17	110	103	7	77	77	0	strelka-varscan-mutect	PRKCB,synonymous_variant,p.=,ENST00000303531,NM_002738.6;PRKCB,intron_variant,,ENST00000321728,NM_212535.2;	T	ENST00000303531	Transcript	synonymous_variant	2171/7969	2019/2022	673/673	S	agC/agT		1		1	PRKCB	HGNC	HGNC:9395	protein_coding	YES	CCDS10619.1	ENSP00000305355	P05771		UPI000002ACF9	NM_002738.6			17/17																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	71	24214813	24214813	C	T	1	0	0	0	0	0	0	0	1	12641	796	28	3		3	PRKCB	16	24214813	Silent	SNP	C	C3N-01071_TP	2088586	24214813	66123532	279	23266											
CLN3	0	.	GRCh38	chr16	28477611	28477611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgcaggtggccgccattgCaaactcccggtgctcatcac	8	8	11	14	2	2	0	2	0	0	0	3	1	3	0	3	3	4	3	3	3	1	1	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1222G>T	p.Ala408Ser	p.A408S	ENST00000569430	17/17	541	479	62	448	446	2	strelka-varscan-mutect	CLN3,missense_variant,p.Ala408Ser,ENST00000569430,;CLN3,missense_variant,p.Ala408Ser,ENST00000636147,NM_001042432.1;CLN3,missense_variant,p.Ala408Ser,ENST00000359984,NM_000086.2;CLN3,missense_variant,p.Ala384Ser,ENST00000360019,NM_001286104.1;CLN3,missense_variant,p.Ala354Ser,ENST00000357857,NM_001286110.1;CLN3,missense_variant,p.Ala384Ser,ENST00000333496,;CLN3,missense_variant,p.Ala311Ser,ENST00000631023,;CLN3,missense_variant,p.Ala309Ser,ENST00000357806,;CLN3,missense_variant,p.Ala354Ser,ENST00000567963,NM_001286109.1;CLN3,missense_variant,p.Ala255Ser,ENST00000395653,;CLN3,missense_variant,p.Ala391Ser,ENST00000565316,;CLN3,missense_variant,p.Ala306Ser,ENST00000636228,;CLN3,missense_variant,p.Ala360Ser,ENST00000355477,;CLN3,missense_variant,p.Ala308Ser,ENST00000637551,NM_001286105.1;CLN3,intron_variant,,ENST00000637100,;RP11-435I10.4,intron_variant,,ENST00000637378,;CLN3,downstream_gene_variant,,ENST00000635973,;CLN3,downstream_gene_variant,,ENST00000568497,;CLN3,downstream_gene_variant,,ENST00000565778,;CLN3,downstream_gene_variant,,ENST00000565047,;RP11-435I10.4,missense_variant,p.Ala408Ser,ENST00000635887,;RP11-435I10.4,missense_variant,p.Ala408Ser,ENST00000636766,;RP11-435I10.4,missense_variant,p.Ala330Ser,ENST00000568224,;RP11-435I10.4,missense_variant,p.Ala129Ser,ENST00000638036,;CLN3,missense_variant,p.Ala188Ser,ENST00000564091,;RP11-435I10.4,3_prime_UTR_variant,,ENST00000636503,;RP11-435I10.4,3_prime_UTR_variant,,ENST00000637376,;RP11-435I10.4,3_prime_UTR_variant,,ENST00000636866,;RP11-435I10.4,3_prime_UTR_variant,,ENST00000636017,;RP11-435I10.4,3_prime_UTR_variant,,ENST00000637299,;CLN3,3_prime_UTR_variant,,ENST00000637107,;CLN3,3_prime_UTR_variant,,ENST00000637184,;CLN3,3_prime_UTR_variant,,ENST00000637871,;CLN3,3_prime_UTR_variant,,ENST00000637578,;CLN3,3_prime_UTR_variant,,ENST00000636172,;CLN3,3_prime_UTR_variant,,ENST00000635861,;CLN3,3_prime_UTR_variant,,ENST00000637699,;CLN3,3_prime_UTR_variant,,ENST00000565140,;CLN3,3_prime_UTR_variant,,ENST00000628023,;CLN3,3_prime_UTR_variant,,ENST00000568422,;CLN3,3_prime_UTR_variant,,ENST00000569030,;CLN3,3_prime_UTR_variant,,ENST00000566057,;RP11-435I10.4,3_prime_UTR_variant,,ENST00000637745,;CLN3,non_coding_transcript_exon_variant,,ENST00000563874,;CLN3,non_coding_transcript_exon_variant,,ENST00000636977,;RP11-435I10.4,non_coding_transcript_exon_variant,,ENST00000636078,;CLN3,non_coding_transcript_exon_variant,,ENST00000636853,;CLN3,non_coding_transcript_exon_variant,,ENST00000636839,;CLN3,non_coding_transcript_exon_variant,,ENST00000568076,;CLN3,non_coding_transcript_exon_variant,,ENST00000561689,;CLN3,non_coding_transcript_exon_variant,,ENST00000635958,;CLN3,non_coding_transcript_exon_variant,,ENST00000637050,;CLN3,non_coding_transcript_exon_variant,,ENST00000636907,;CLN3,non_coding_transcript_exon_variant,,ENST00000568452,;CLN3,non_coding_transcript_exon_variant,,ENST00000636351,;CLN3,non_coding_transcript_exon_variant,,ENST00000565354,;CLN3,downstream_gene_variant,,ENST00000566083,;CLN3,downstream_gene_variant,,ENST00000566824,;CLN3,downstream_gene_variant,,ENST00000564574,;CLN3,downstream_gene_variant,,ENST00000568472,;CLN3,downstream_gene_variant,,ENST00000636685,;	A	ENST00000569430	Transcript	missense_variant	3550/3867	1222/1317	408/438	A/S	Gca/Tca		1		-1	CLN3	HGNC	HGNC:2074	protein_coding	YES	CCDS10632.1	ENSP00000454229	Q13286	A0A024QZB8	UPI00000000ED		tolerated(0.39)		17/17		Transmembrane_helices:TMhelix,hmmpanther:PTHR10981:SF0,hmmpanther:PTHR10981,Pfam_domain:PF02487,PIRSF_domain:PIRSF015974,Superfamily_domains:SSF103473,Prints_domain:PR01315																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	71	28477611	28477611	C	A	1	0	0	0	0	1	0	0	0	3313	710	25	2		2	CLN3	16	28477611	Missense_Mutation	SNP	C	C3N-01071_TP	4262798	28477611	61860734	280	23267											
ASPHD1	0	.	GRCh38	chr16	29901350	29901350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggatgctcggaggccggcGggccaagcccagggggtcct	5	5	19	12	3	0	0	0	0	0	0	2	2	1	2	4	7	2	1	4	7	1	0	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.379G>T	p.Gly127Trp	p.G127W	ENST00000308748	1/3	71	63	8	57	57	0	strelka-mutect	ASPHD1,missense_variant,p.Gly127Trp,ENST00000308748,NM_181718.3;ASPHD1,intron_variant,,ENST00000483405,;ASPHD1,intron_variant,,ENST00000563177,;SEZ6L2,upstream_gene_variant,,ENST00000308713,NM_201575.3,NM_001114099.2;SEZ6L2,upstream_gene_variant,,ENST00000617533,NM_001243332.1;SEZ6L2,upstream_gene_variant,,ENST00000537485,NM_001243333.1;SEZ6L2,upstream_gene_variant,,ENST00000350527,NM_012410.3;SEZ6L2,upstream_gene_variant,,ENST00000346932,NM_001114100.2;KCTD13,downstream_gene_variant,,ENST00000568000,NM_178863.4;SEZ6L2,upstream_gene_variant,,ENST00000568380,;SEZ6L2,upstream_gene_variant,,ENST00000562159,;ASPHD1,missense_variant,p.Gly127Trp,ENST00000566693,;ASPHD1,missense_variant,p.Gly127Trp,ENST00000414952,;KCTD13,downstream_gene_variant,,ENST00000566842,;KCTD13,downstream_gene_variant,,ENST00000308768,;	T	ENST00000308748	Transcript	missense_variant	631/1584	379/1173	127/390	G/W	Ggg/Tgg		1		1	ASPHD1	HGNC	HGNC:27380	protein_coding	YES	CCDS10660.1	ENSP00000311447	Q5U4P2		UPI0000197DF0	NM_181718.3	deleterious(0.02)		1/3		hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF27,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	29901350	29901350	G	T	1	0	0	0	0	1	0	0	0	1201	1116	39	1		1	ASPHD1	16	29901350	Missense_Mutation	SNP	G	C3N-01071_TP	1423739	29901350	60436995	281	23268											
SETD1A	0	.	GRCh38	chr16	30965396	30965396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagctaattttgaggatgtgGcacctacagggagcggggag	10	8	16	7	1	0	1	0	1	0	0	0	4	0	4	1	5	3	2	1	5	2	4			C3N-01071_TP	C3N-01071_NB	G	G																c.1654G>A	p.Ala552Thr	p.A552T	ENST00000262519	7/19	109	99	10	92	92	0	strelka-varscan-mutect	SETD1A,missense_variant,p.Ala552Thr,ENST00000262519,NM_014712.2;SETD1A,downstream_gene_variant,,ENST00000452917,;	A	ENST00000262519	Transcript	missense_variant	2340/6903	1654/5124	552/1707	A/T	Gca/Aca	COSM3707008	1		1	SETD1A	HGNC	HGNC:29010	protein_coding	YES	CCDS32435.1	ENSP00000262519	O15047		UPI00001C1FA9	NM_014712.2	tolerated_low_confidence(0.06)		7/19		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF295											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	71	30965396	30965396	G	A	1	0	0	0	0	1	0	0	0	14407	1203	42	3		3	SETD1A	16	30965396	Missense_Mutation	SNP	G	C3N-01071_TP	1064046	30965396	59372949	282	23269											
ZNF267	0	.	GRCh38	chr16	31915470	31915470	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacactggagagaaaccAtacaaatgtaaagaatgtgg	18	8	9	6	0	1	2	1	0	0	2	1	4	1	3	1	2	2	1	1	2	6	3	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.1221A>G	p.=	p.P407P	ENST00000300870	4/4	156	138	18	137	137	0	strelka-varscan-mutect	ZNF267,synonymous_variant,p.=,ENST00000300870,NM_003414.5;ZNF267,downstream_gene_variant,,ENST00000394846,;ZNF267,downstream_gene_variant,,ENST00000562971,;ZNF267,non_coding_transcript_exon_variant,,ENST00000575471,;ZNF267,downstream_gene_variant,,ENST00000566541,;ZNF267,downstream_gene_variant,,ENST00000561814,;	G	ENST00000300870	Transcript	synonymous_variant	1430/3317	1221/2232	407/743	P	ccA/ccG		1		1	ZNF267	HGNC	HGNC:13060	protein_coding	YES	CCDS32440.1	ENSP00000300870	Q14586		UPI000045696F	NM_003414.5			4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF184,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	71	31915470	31915470	A	G	1	0	0	0	0	0	0	0	1	18382	204	8	5		5	ZNF267	16	31915470	Silent	SNP	A	C3N-01071_TP	950074	31915470	58422875	283	23270											
CYLD	0	.	GRCh38	chr16	50779841	50779841	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattggccacagtccacttTctctgtcagcccagtctgta	7	13	8	13	0	3	0	1	0	2	0	5	0	4	0	3	1	1	2	3	1	2	4	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.1315T>C	p.Ser439Pro	p.S439P	ENST00000427738	8/18	237	202	35	207	207	0	strelka-varscan-mutect	CYLD,missense_variant,p.Ser439Pro,ENST00000427738,;CYLD,missense_variant,p.Ser439Pro,ENST00000311559,NM_015247.2;CYLD,missense_variant,p.Ser436Pro,ENST00000398568,NM_001042412.1;CYLD,missense_variant,p.Ser436Pro,ENST00000569418,NM_001042355.1;CYLD,missense_variant,p.Ser436Pro,ENST00000564326,;CYLD,missense_variant,p.Ser436Pro,ENST00000566206,;CYLD,intron_variant,,ENST00000568704,;RP11-327F22.4,downstream_gene_variant,,ENST00000564510,;RP11-327F22.4,downstream_gene_variant,,ENST00000575917,;CYLD,non_coding_transcript_exon_variant,,ENST00000569891,;CYLD,non_coding_transcript_exon_variant,,ENST00000563629,;CYLD,downstream_gene_variant,,ENST00000563976,;	C	ENST00000427738	Transcript	missense_variant	1520/8503	1315/2871	439/956	S/P	Tct/Cct		1		1	CYLD	HGNC	HGNC:2584	protein_coding	YES	CCDS45482.1	ENSP00000392025	Q9NQC7		UPI0000073A15		deleterious(0.02)		8/18		Pfam_domain:PF16607																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	71	50779841	50779841	T	C	1	0	0	0	0	1	0	0	0	3946	1783	62	5		5	CYLD	16	50779841	Missense_Mutation	SNP	T	C3N-01071_TP	18864371	50779841	39558504	284	23271											
CPNE2	0	.	GRCh38	chr16	57115475	57115475	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttctcctctctcccctaGatcgtctccagcaagaagat	8	12	5	16	1	3	3	0	0	3	3	8	3	4	3	5	0	1	1	5	0	3	2	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.361-1G>T		p.X121_splice	ENST00000290776		109	97	12	100	100	0	strelka-varscan-mutect	CPNE2,splice_acceptor_variant,,ENST00000290776,NM_152727.5;CPNE2,splice_acceptor_variant,,ENST00000535318,;CPNE2,splice_acceptor_variant,,ENST00000565874,;CPNE2,splice_acceptor_variant,,ENST00000567487,;CPNE2,upstream_gene_variant,,ENST00000565766,;CPNE2,downstream_gene_variant,,ENST00000566259,;	T	ENST00000290776	Transcript	splice_acceptor_variant	-/2645	361/1647	121/548				1		1	CPNE2	HGNC	HGNC:2315	protein_coding	YES	CCDS10774.1	ENSP00000290776	Q96FN4		UPI000017DA4F	NM_152727.5				3/15																		HIGH	1	SNV	1			1										PASS		rs1283632939	.												T	5	4	71	57115475	57115475	G	T	1	0	0	0	0	0	0	1	0	3607	956	33	2		2	CPNE2	16	57115475	Splice_Site	SNP	G	C3N-01071_TP	6335634	57115475	33222870	285	23272											
MMP15	0	.	GRCh38	chr16	58045363	58045363	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgcgtcctgggcctcAcctacgcgctggtgcagatg	4	10	13	14	3	2	1	1	0	1	1	3	1	3	1	3	2	4	3	3	2	1	1	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.1927A>T	p.Thr643Ser	p.T643S	ENST00000219271	10/10	185	173	12	231	231	0	strelka-varscan-mutect	MMP15,missense_variant,p.Thr643Ser,ENST00000219271,NM_002428.2;MMP15,downstream_gene_variant,,ENST00000570065,;	T	ENST00000219271	Transcript	missense_variant	2712/4250	1927/2010	643/669	T/S	Acc/Tcc		1		1	MMP15	HGNC	HGNC:7161	protein_coding	YES	CCDS10792.1	ENSP00000219271	P51511	A0A024R6U8	UPI000003DC75	NM_002428.2	deleterious(0.04)		10/10		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF11857																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	58045363	58045363	A	T	1	0	0	0	0	1	0	0	0	9617	159	6	4		4	MMP15	16	58045363	Missense_Mutation	SNP	A	C3N-01071_TP	929888	58045363	32292982	286	23273											
CNOT1	0	.	GRCh38	chr16	58525287	58525287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgtggatgtgcgcaatggCctgagtcccgacatagagca	9	9	14	9	2	0	2	0	1	0	1	1	4	1	3	2	2	2	3	2	2	2	2			C3N-01071_TP	C3N-01071_NB	C	C																c.6676G>C	p.Ala2226Pro	p.A2226P	ENST00000317147	46/49	429	399	30	409	409	0	strelka-varscan-mutect	CNOT1,missense_variant,p.Ala2226Pro,ENST00000317147,NM_016284.4;CNOT1,missense_variant,p.Ala2221Pro,ENST00000569240,NM_001265612.1;SETD6,downstream_gene_variant,,ENST00000394266,;RP11-481J2.4,downstream_gene_variant,,ENST00000622896,;CNOT1,3_prime_UTR_variant,,ENST00000567188,;CNOT1,non_coding_transcript_exon_variant,,ENST00000563130,;CNOT1,non_coding_transcript_exon_variant,,ENST00000569924,;CNOT1,downstream_gene_variant,,ENST00000570139,;	G	ENST00000317147	Transcript	missense_variant	7009/8471	6676/7131	2226/2376	A/P	Gcc/Ccc	COSM2992808	1		-1	CNOT1	HGNC	HGNC:7877	protein_coding	YES	CCDS10799.1	ENSP00000320949	A5YKK6		UPI00001FF2F6	NM_016284.4	deleterious(0)		46/49		hmmpanther:PTHR13162,Pfam_domain:PF04054											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	71	58525287	58525287	C	G	1	0	0	0	0	1	0	0	0	3396	739	26	4		4	CNOT1	16	58525287	Missense_Mutation	SNP	C	C3N-01071_TP	479924	58525287	31813058	287	23274											
AARS	0	.	GRCh38	chr16	70253934	70253934	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcactcgtttctggacatcGgctttgctggctcggtccaa	5	13	10	13	3	2	0	1	0	1	0	6	1	3	1	1	4	1	4	1	4	1	2	rs769571173		C3N-01071_TP	C3N-01071_NB	G	G																c.2505C>T	p.=	p.A835A	ENST00000261772	18/21	811	770	41	678	678	0	strelka-varscan-mutect	AARS,synonymous_variant,p.=,ENST00000261772,NM_001605.2;EXOSC6,upstream_gene_variant,,ENST00000435634,NM_058219.2;AARS,downstream_gene_variant,,ENST00000565361,;AARS,downstream_gene_variant,,ENST00000564359,;AARS,non_coding_transcript_exon_variant,,ENST00000569825,;	A	ENST00000261772	Transcript	synonymous_variant	2649/3477	2505/2907	835/968	A	gcC/gcT	rs769571173,COSM4644011	1		-1	AARS	HGNC	HGNC:20	protein_coding	YES	CCDS32474.1	ENSP00000261772	P49588		UPI0000169F0B	NM_001605.2			18/21		HAMAP:MF_00036_B,hmmpanther:PTHR11777:SF9,hmmpanther:PTHR11777,TIGRFAM_domain:TIGR00344											0,1						LOW	1	SNV	1		0,1	1										PASS		rs769571173	.												A	2	1	71	70253934	70253934	G	A	1	0	0	0	0	0	0	0	1	23	1103	39	1		1	AARS	16	70253934	Silent	SNP	G	C3N-01071_TP	11728647	70253934	20084411	288	23275											
PLCG2	0	.	GRCh38	chr16	81938800	81938800	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttccctttggtgtcccaGgttctcggtgctcgccatct	2	15	10	14	2	2	0	0	0	2	0	6	0	4	0	3	3	2	3	3	3	0	3	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.3199-1G>A		p.X1067_splice	ENST00000564138		123	115	8	121	121	0	strelka-varscan-mutect	PLCG2,splice_acceptor_variant,,ENST00000564138,NM_002661.4;PLCG2,splice_acceptor_variant,,ENST00000359376,;PLCG2,splice_acceptor_variant,,ENST00000563834,;PLCG2,splice_acceptor_variant,,ENST00000567373,;PLCG2,non_coding_transcript_exon_variant,,ENST00000567356,;PLCG2,downstream_gene_variant,,ENST00000563269,;	A	ENST00000564138	Transcript	splice_acceptor_variant	-/8707	3199/3798	1067/1265				1		1	PLCG2	HGNC	HGNC:9066	protein_coding	YES	CCDS42204.1	ENSP00000482457	P16885		UPI00001411F7	NM_002661.4				28/32																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	71	81938800	81938800	G	A	1	0	0	0	0	0	0	1	0	12130	1014	35	3		3	PLCG2	16	81938800	Splice_Site	SNP	G	C3N-01071_TP	11684866	81938800	8399545	289	23276											
NECAB2	0	.	GRCh38	chr16	83978544	83978544	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcacacgattgactctgaCaacaccaagtgagcttcagt	12	11	7	11	1	3	3	2	3	1	0	3	4	3	3	1	0	2	1	1	0	2	3	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.327C>A	p.Asp109Glu	p.D109E	ENST00000305202	3/13	133	121	12	162	162	0	strelka-mutect	NECAB2,missense_variant,p.Thr35Lys,ENST00000565691,;NECAB2,missense_variant,p.Asp109Glu,ENST00000305202,NM_019065.2;NECAB2,upstream_gene_variant,,ENST00000566836,;	A	ENST00000305202	Transcript	missense_variant	344/1608	327/1161	109/386	D/E	gaC/gaA		1		1	NECAB2	HGNC	HGNC:23746	protein_coding	YES	CCDS10940.1	ENSP00000307449	Q7Z6G3		UPI00001A9944	NM_019065.2	deleterious(0.02)		3/13		PROSITE_profiles:PS50222,hmmpanther:PTHR12178:SF2,hmmpanther:PTHR12178,PROSITE_patterns:PS00018,Gene3D:1.10.238.10,Pfam_domain:PF13833,SMART_domains:SM00054,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		rs35610958	.												A	3	1	71	83978544	83978544	C	A	1	0	0	0	0	1	0	0	0	10329	478	17	2		2	NECAB2	16	83978544	Missense_Mutation	SNP	C	C3N-01071_TP	2039744	83978544	6359801	290	23277											
HIC1	0	.	GRCh38	chr17	2057550	2057550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcaccgccttccgaccCatttcgcggcggcagcggca	5	5	13	18	7	0	0	0	0	0	0	2	1	1	0	5	4	1	3	5	4	0	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.917C>T	p.Pro306Leu	p.P306L	ENST00000322941	2/2	338	273	65	418	418	0	strelka-varscan-mutect	HIC1,missense_variant,p.Pro287Leu,ENST00000619757,;HIC1,missense_variant,p.Pro287Leu,ENST00000399849,NM_006497.3;HIC1,missense_variant,p.Pro306Leu,ENST00000322941,NM_001098202.1;SMG6,downstream_gene_variant,,ENST00000263073,NM_017575.4;SMG6,downstream_gene_variant,,ENST00000354901,NM_001256827.1;SMG6,downstream_gene_variant,,ENST00000536871,NM_001256828.1;HIC1,downstream_gene_variant,,ENST00000574370,;HIC1,downstream_gene_variant,,ENST00000571875,;HIC1,downstream_gene_variant,,ENST00000576444,;HIC1,downstream_gene_variant,,ENST00000571990,;SMG6,downstream_gene_variant,,ENST00000573166,;SMG6,downstream_gene_variant,,ENST00000570756,;SMG6,downstream_gene_variant,,ENST00000576218,;SMG6,downstream_gene_variant,,ENST00000573827,;SMG6,downstream_gene_variant,,ENST00000573153,;SMG6,downstream_gene_variant,,ENST00000574501,;	T	ENST00000322941	Transcript	missense_variant	917/3053	917/2202	306/733	P/L	cCa/cTa		1		1	HIC1	HGNC	HGNC:4909	protein_coding	YES	CCDS42229.1	ENSP00000314080	Q14526		UPI0000140F7F	NM_001098202.1	tolerated(0.06)		2/2		Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	71	2057550	2057550	C	T	1	0	0	0	0	1	0	0	0	6985	594	21	3		3	HIC1	17	2057550	Missense_Mutation	SNP	C	C3N-01071_TP		2057550	81199891	291	23278											
OR1G1	0	.	GRCh38	chr17	3127171	3127171	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaatgtaatgaagtgggtgGcatatggccacgtagcagtc	12	9	14	6	1	0	2	0	1	0	1	1	2	0	2	1	3	1	4	1	3	5	3	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.381C>T	p.=	p.C127C	ENST00000328890	1/1	199	172	27	181	181	0	strelka-varscan-mutect	OR1G1,synonymous_variant,p.=,ENST00000328890,NM_003555.1;	A	ENST00000328890	Transcript	synonymous_variant	411/998	381/942	127/313	C	tgC/tgT		1		-1	OR1G1	HGNC	HGNC:8204	protein_coding	YES	CCDS11020.1	ENSP00000331545	P47890	A0A126GW57	UPI0000041B68	NM_003555.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF247,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	71	3127171	3127171	G	A	1	0	0	0	0	0	0	0	1	11035	1195	42	3		3	OR1G1	17	3127171	Silent	SNP	G	C3N-01071_TP	1069621	3127171	80130270	292	23279											
CYB5D2	0	.	GRCh38	chr17	4150010	4150010	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattggctttcattctatGagaagaattatgtgtgtgtt	11	17	9	4	0	2	2	1	1	1	2	2	3	2	2	0	1	0	2	0	1	5	6	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.370G>T	p.Glu124Ter	p.E124*	ENST00000301391	2/4	206	189	17	330	330	0	strelka-varscan-mutect	CYB5D2,stop_gained,p.Glu124Ter,ENST00000301391,NM_144611.3;CYB5D2,stop_gained,p.Glu12Ter,ENST00000575251,NM_001254755.1;CYB5D2,stop_gained,p.Glu12Ter,ENST00000577075,NM_001254756.1;CYB5D2,stop_gained,p.Glu12Ter,ENST00000573984,;CYB5D2,non_coding_transcript_exon_variant,,ENST00000575411,;	T	ENST00000301391	Transcript	stop_gained	870/1910	370/795	124/264	E/*	Gag/Tag		1		1	CYB5D2	HGNC	HGNC:28471	protein_coding	YES	CCDS11044.1	ENSP00000301391	Q8WUJ1		UPI000006E3B0	NM_144611.3			2/4		Gene3D:3.10.120.10,Pfam_domain:PF00173,hmmpanther:PTHR10281,hmmpanther:PTHR10281:SF4,SMART_domains:SM01117,Superfamily_domains:SSF55856																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	71	4150010	4150010	G	T	1	0	0	0	0	0	1	0	0	3929	1291	45	2		2	CYB5D2	17	4150010	Nonsense_Mutation	SNP	G	C3N-01071_TP	1022839	4150010	79107431	293	23280											
TP53	0	.	GRCh38	chr17	7673781	7673781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcctctgtgcgccggtctCtcccaggacaggcacaaaca	8	8	9	16	2	2	0	0	0	2	0	5	1	4	1	3	3	2	1	3	3	1	1	rs121912660		C3N-01071_TP	C3N-01071_NB	C	C																c.839G>A	p.Arg280Lys	p.R280K	ENST00000269305	8/11	774	658	116	692	692	0	strelka-varscan-mutect	TP53,missense_variant,p.Arg280Lys,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Arg280Lys,ENST00000420246,;TP53,missense_variant,p.Arg241Lys,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Arg241Lys,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg280Lys,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Arg241Lys,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Arg280Lys,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Arg241Lys,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Arg280Lys,ENST00000445888,;TP53,missense_variant,p.Arg241Lys,ENST00000619485,;TP53,missense_variant,p.Arg148Lys,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Arg121Lys,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Arg148Lys,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Arg121Lys,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Arg148Lys,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Arg121Lys,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Arg280Lys,ENST00000359597,;TP53,missense_variant,p.Arg269Lys,ENST00000615910,;TP53,missense_variant,p.Arg148Lys,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Arg241Lys,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	T	ENST00000269305	Transcript	missense_variant	1029/2579	839/1182	280/393	R/K	aGa/aAa	rs121912660,CM993218,TP53_g.13819G>C,TP53_g.13819G>T,TP53_g.13819G>A,COSM10724,COSM10728,COSM11287,COSM129830,COSM1646813,COSM1649340,COSM1659144,COSM254987,COSM3522694,COSM3723939,COSM3733332,COSM562340	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0.04)		8/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										uncertain_significance,pathogenic	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs121912660	.												T	3	4	71	7673781	7673781	C	T	1	0	0	0	0	1	0	0	0	16859	913	32	3		3	TP53	17	7673781	Missense_Mutation	SNP	C	C3N-01071_TP	3523771	7673781	75583660	294	23281											
GAS7	0	.	GRCh38	chr17	9943137	9943137	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctttcccggatgaattCtgacatttccttctgcattt	7	17	5	12	1	3	2	1	2	2	0	5	3	5	3	3	1	1	1	3	1	1	5	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.715G>T	p.Glu239Ter	p.E239*	ENST00000432992	7/14	96	84	12	98	98	0	strelka-varscan-mutect	GAS7,stop_gained,p.Glu179Ter,ENST00000323816,;GAS7,stop_gained,p.Glu175Ter,ENST00000437099,NM_001130831.1;GAS7,stop_gained,p.Glu239Ter,ENST00000432992,NM_201433.1;GAS7,stop_gained,p.Glu179Ter,ENST00000585266,NM_201432.1;GAS7,stop_gained,p.Glu99Ter,ENST00000580865,NM_003644.2;GAS7,stop_gained,p.Glu175Ter,ENST00000542249,;GAS7,stop_gained,p.Glu175Ter,ENST00000579158,;GAS7,stop_gained,p.Glu175Ter,ENST00000584146,;GAS7,intron_variant,,ENST00000396115,;GAS7,intron_variant,,ENST00000583882,;GAS7,downstream_gene_variant,,ENST00000578599,;GAS7,downstream_gene_variant,,ENST00000584389,;GAS7,non_coding_transcript_exon_variant,,ENST00000580811,;GAS7,non_coding_transcript_exon_variant,,ENST00000581871,;GAS7,non_coding_transcript_exon_variant,,ENST00000579140,;GAS7,downstream_gene_variant,,ENST00000578655,;	A	ENST00000432992	Transcript	stop_gained	876/4970	715/1431	239/476	E/*	Gaa/Taa		1		-1	GAS7	HGNC	HGNC:4169	protein_coding	YES	CCDS11152.1	ENSP00000407552	O60861		UPI00001B4B17	NM_201433.1			7/14		Pfam_domain:PF00611,PROSITE_profiles:PS51741,hmmpanther:PTHR23065,SMART_domains:SM00055,Superfamily_domains:SSF103657																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	71	9943137	9943137	C	A	1	0	0	0	0	0	1	0	0	6120	922	32	2		2	GAS7	17	9943137	Nonsense_Mutation	SNP	C	C3N-01071_TP	2269356	9943137	73314304	295	23282											
MYH4	0	.	GRCh38	chr17	10447989	10447989	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtactctgcattgactcCacaactctgagatggttcct	9	13	8	11	0	2	2	0	2	2	1	4	3	4	2	2	1	3	3	2	1	2	3	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.4794G>C	p.=	p.V1598V	ENST00000255381	34/40	251	206	45	265	265	0	strelka-varscan-mutect	MYH4,synonymous_variant,p.=,ENST00000255381,NM_017533.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	G	ENST00000255381	Transcript	synonymous_variant	4905/6016	4794/5820	1598/1939	V	gtG/gtC		1		-1	MYH4	HGNC	HGNC:7574	protein_coding	YES	CCDS11154.1	ENSP00000255381	Q9Y623		UPI000013CEAB	NM_017533.2			34/40		Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF271																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	71	10447989	10447989	C	G	1	0	0	0	0	0	0	0	1	10037	581	21	4		4	MYH4	17	10447989	Silent	SNP	C	C3N-01071_TP	504852	10447989	72809452	296	23283											
MYH1	0	.	GRCh38	chr17	10494436	10494436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcctgagaatattcttgCggtcttcctcagtctgaaat	9	13	10	9	1	4	2	1	2	3	1	5	4	5	3	2	2	2	0	2	2	3	4	rs770764395		C3N-01071_TP	C3N-01071_NB	C	C																c.5585G>T	p.Arg1862Leu	p.R1862L	ENST00000226207	39/40	141	123	18	179	178	1	strelka-varscan-mutect	MYH1,missense_variant,p.Arg1862Leu,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000226207	Transcript	missense_variant	5680/6024	5585/5820	1862/1939	R/L	cGc/cTc	rs770764395,COSM1630049	1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3	deleterious(0)		39/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF454,Superfamily_domains:SSF57997											0,1						MODERATE		SNV	5		0,1	1										PASS		rs770764395	.												A	3	1	71	10494436	10494436	C	A	1	0	0	0	0	1	0	0	0	10029	768	27	1		1	MYH1	17	10494436	Missense_Mutation	SNP	C	C3N-01071_TP	46447	10494436	72763005	297	23284											
DNAH9	0	.	GRCh38	chr17	11768548	11768548	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accatctttgactattacatCgacccagagaccaagaaatt	15	10	5	11	1	1	3	0	1	1	2	2	5	1	3	3	0	1	0	3	0	4	4	rs201337796		C3N-01071_TP	C3N-01071_NB	C	C																c.7266C>T	p.=	p.I2422I	ENST00000262442	37/69	214	202	12	220	220	0	strelka-varscan-mutect	DNAH9,synonymous_variant,p.=,ENST00000262442,NM_001372.3;DNAH9,synonymous_variant,p.=,ENST00000454412,;	T	ENST00000262442	Transcript	synonymous_variant	7334/13750	7266/13461	2422/4486	I	atC/atT	rs201337796,COSM3387707,COSM3514133	1		1	DNAH9	HGNC	HGNC:2953	protein_coding	YES	CCDS11160.1	ENSP00000262442	Q9NYC9		UPI0000141BA2	NM_001372.3			37/69		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs201337796	.												T	2	4	71	11768548	11768548	C	T	1	0	0	0	0	0	0	0	1	4423	874	31	1		1	DNAH9	17	11768548	Silent	SNP	C	C3N-01071_TP	1274112	11768548	71488893	298	23285											
VTN	0	.	GRCh38	chr17	28369707	28369707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagaacaggtgtctgctcaGgattccctttggactgggcc	7	11	12	11	0	3	1	2	0	1	1	4	3	4	3	2	4	2	1	2	4	1	2	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.329C>T	p.Pro110Leu	p.P110L	ENST00000226218	3/8	323	274	49	367	367	0	strelka-varscan-mutect	VTN,missense_variant,p.Pro110Leu,ENST00000226218,NM_000638.3;VTN,missense_variant,p.Pro110Leu,ENST00000542029,;SARM1,upstream_gene_variant,,ENST00000585482,NM_015077.3;CTB-96E2.2,upstream_gene_variant,,ENST00000555059,;SEBOX,upstream_gene_variant,,ENST00000536498,NM_001080837.3;CTB-96E2.10,upstream_gene_variant,,ENST00000613598,;SARM1,intron_variant,,ENST00000379061,;CTB-96E2.3,intron_variant,,ENST00000591482,;CTB-96E2.6,downstream_gene_variant,,ENST00000623773,;VTN,upstream_gene_variant,,ENST00000539746,;	A	ENST00000226218	Transcript	missense_variant	948/2149	329/1437	110/478	P/L	cCt/cTt		1		-1	VTN	HGNC	HGNC:12724	protein_coding	YES	CCDS11229.1	ENSP00000226218	P04004	D9ZGG2	UPI0000138E65	NM_000638.3	tolerated(0.13)		3/8		hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	28369707	28369707	G	A	1	0	0	0	0	1	0	0	0	17791	1000	35	3		3	VTN	17	28369707	Missense_Mutation	SNP	G	C3N-01071_TP	16601159	28369707	54887734	299	23286											
NF1	0	.	GRCh38	chr17	31338139	31338139	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataatccgtattcttagcaaGgtacctgttccgccctcact	9	13	6	13	2	2	0	1	0	1	0	4	0	4	0	4	1	2	4	4	1	5	6			C3N-01071_TP	C3N-01071_NB	G	G																c.6819G>C	p.Lys2273Asn	p.K2273N	ENST00000358273	45/58	387	363	24	360	360	0	strelka-varscan-mutect	NF1,missense_variant,p.Lys2273Asn,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Lys2252Asn,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Lys1918Asn,ENST00000456735,;NF1,downstream_gene_variant,,ENST00000581113,;NF1,missense_variant,p.Lys68Asn,ENST00000471572,;NF1,splice_region_variant,,ENST00000579081,;NF1,splice_region_variant,,ENST00000584328,;NF1,intron_variant,,ENST00000581790,;NF1,downstream_gene_variant,,ENST00000479536,;NF1,upstream_gene_variant,,ENST00000582892,;	C	ENST00000358273	Transcript	missense_variant,splice_region_variant	7202/12425	6819/8520	2273/2839	K/N	aaG/aaC	COSM5609525,COSM5609526,COSM5609527	1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2	deleterious(0.02)		45/58		Gene3D:1.25.10.10,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF90,Superfamily_domains:SSF48371											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs1060500373	.												C	3	2	71	31338139	31338139	G	C	1	0	0	0	0	1	0	0	0	10393	1014	35	4		4	NF1	17	31338139	Missense_Mutation	SNP	G	C3N-01071_TP	2968432	31338139	51919302	300	23287											
C17orf78	0	.	GRCh38	chr17	37388749	37388749	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcaccctgttgctcagTggagttgccattatagtatt	7	15	10	9	0	2	0	2	0	0	0	2	1	2	1	2	1	2	5	2	1	3	6	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.588T>A	p.Ser196Arg	p.S196R	ENST00000615133	5/7	310	251	59	317	317	0	strelka-varscan-mutect	C17orf78,missense_variant,p.Ser196Arg,ENST00000615133,NM_173625.3;ACACA,intron_variant,,ENST00000616317,NM_198834.2;C17orf78,intron_variant,,ENST00000611038,NM_001321399.1;ACACA,intron_variant,,ENST00000616352,;RP11-378E13.3,downstream_gene_variant,,ENST00000617427,;ACACA,intron_variant,,ENST00000618351,;ACACA,intron_variant,,ENST00000615229,;ACACA,intron_variant,,ENST00000617548,;	A	ENST00000615133	Transcript	missense_variant	638/1862	588/828	196/275	S/R	agT/agA		1		1	C17orf78	HGNC	HGNC:26831	protein_coding	YES	CCDS45655.1	ENSP00000478886	Q8N4C9		UPI0000140B91	NM_173625.3	tolerated(0.13)		5/7		Transmembrane_helices:TMhelix,hmmpanther:PTHR36870,hmmpanther:PTHR36870:SF1,Pfam_domain:PF15829																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	37388749	37388749	T	A	1	0	0	0	0	1	0	0	0	1890	1693	59	4		4	C17orf78	17	37388749	Missense_Mutation	SNP	T	C3N-01071_TP	6050610	37388749	45868692	301	23288											
LRRC3C	0	.	GRCh38	chr17	39944218	39944218	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccttccagcacctgcctgtCctggaggagttggatctgtc	5	11	12	13	0	1	0	0	0	1	0	4	3	3	3	5	3	2	2	5	3	0	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.312C>A	p.=	p.V104V	ENST00000377924	2/2	122	111	11	116	116	0	strelka-varscan-mutect	LRRC3C,synonymous_variant,p.=,ENST00000377924,NM_001195545.1;RP11-387H17.4,downstream_gene_variant,,ENST00000582263,;	A	ENST00000377924	Transcript	synonymous_variant	362/891	312/828	104/275	V	gtC/gtA		1		1	LRRC3C	HGNC	HGNC:40034	protein_coding	YES	CCDS54121.1	ENSP00000367157	A6NJW4		UPI0000198ACC	NM_001195545.1			2/2		PROSITE_profiles:PS51450,hmmpanther:PTHR24369,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	3			1										PASS		rs1178778848	.												A	2	1	71	39944218	39944218	C	A	1	0	0	0	0	0	0	0	1	8892	842	30	2		2	LRRC3C	17	39944218	Silent	SNP	C	C3N-01071_TP	2555469	39944218	43313223	302	23289											
HOXB2	0	.	GRCh38	chr17	48543452	48543452	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggccgcccgggctggcCgcgggttcctcggcagggtc	2	5	20	14	5	0	0	0	0	0	0	3	1	1	0	4	7	0	3	4	7	0	1	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.687G>T	p.=	p.A229A	ENST00000330070	2/2	147	136	11	136	136	0	strelka-varscan-mutect	HOXB2,synonymous_variant,p.=,ENST00000330070,NM_002145.3;HOXB-AS1,upstream_gene_variant,,ENST00000435312,;HOXB-AS1,upstream_gene_variant,,ENST00000504972,;HOXB-AS1,upstream_gene_variant,,ENST00000502764,;HOXB-AS1,upstream_gene_variant,,ENST00000508688,;HOXB2,non_coding_transcript_exon_variant,,ENST00000571287,;HOXB2,upstream_gene_variant,,ENST00000504772,;	A	ENST00000330070	Transcript	synonymous_variant	765/1562	687/1071	229/356	A	gcG/gcT		1		-1	HOXB2	HGNC	HGNC:5113	protein_coding	YES	CCDS11527.1	ENSP00000331741	P14652		UPI000012CF4C	NM_002145.3			2/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF179,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	71	48543452	48543452	C	A	1	0	0	0	0	0	0	0	1	7195	639	23	1		1	HOXB2	17	48543452	Silent	SNP	C	C3N-01071_TP	8599234	48543452	34713989	303	23290											
MYCBPAP	0	.	GRCh38	chr17	50517442	50517442	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagccacaaagcctctGgactactccggtacacccag	12	6	9	14	1	1	1	0	1	1	0	2	3	2	2	4	2	4	1	4	2	4	2	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.483G>T	p.=	p.L161L	ENST00000323776	3/19	507	360	147	535	535	0	strelka-varscan-mutect	MYCBPAP,synonymous_variant,p.=,ENST00000323776,NM_032133.4;MYCBPAP,synonymous_variant,p.=,ENST00000436259,;MYCBPAP,synonymous_variant,p.=,ENST00000452039,;MYCBPAP,downstream_gene_variant,,ENST00000576179,;MYCBPAP,upstream_gene_variant,,ENST00000468821,;MYCBPAP,synonymous_variant,p.=,ENST00000437498,;MYCBPAP,3_prime_UTR_variant,,ENST00000458692,;MYCBPAP,non_coding_transcript_exon_variant,,ENST00000470609,;MYCBPAP,upstream_gene_variant,,ENST00000459754,;	T	ENST00000323776	Transcript	synonymous_variant	645/3186	483/2955	161/984	L	ctG/ctT		1		1	MYCBPAP	HGNC	HGNC:19677	protein_coding	YES	CCDS32680.2	ENSP00000323184	Q8TBZ2	A0A140VK87	UPI0000E5A00B	NM_032133.4			3/19																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	71	50517442	50517442	G	T	1	0	0	0	0	0	0	0	1	10019	1335	47	2		2	MYCBPAP	17	50517442	Silent	SNP	G	C3N-01071_TP	1973990	50517442	32739999	304	23291											
KIF2B	0	.	GRCh38	chr17	53823769	53823769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcggacaatgtggttatgGtgcatgagtccaagcaaaag	12	9	12	8	1	0	1	0	1	0	0	2	2	1	2	2	3	2	3	2	3	5	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.736G>T	p.Val246Leu	p.V246L	ENST00000268919	1/1	257	206	51	373	373	0	strelka-varscan-mutect	KIF2B,missense_variant,p.Val246Leu,ENST00000268919,NM_032559.4;	T	ENST00000268919	Transcript	missense_variant	869/2313	736/2022	246/673	V/L	Gtg/Ttg		1		1	KIF2B	HGNC	HGNC:29443	protein_coding	YES	CCDS32685.1	ENSP00000268919	Q8N4N8	A0A140VKG5	UPI000013D7E6	NM_032559.4	deleterious(0.03)		1/1		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF524,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	71	53823769	53823769	G	T	1	0	0	0	0	1	0	0	0	8163	1261	44	2		2	KIF2B	17	53823769	Missense_Mutation	SNP	G	C3N-01071_TP	3306327	53823769	29433672	305	23292											
COIL	0	.	GRCh38	chr17	56949420	56949420	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcaggagagtaactggaTgttagctccaaaagctaaaa	17	8	9	7	0	1	1	1	0	0	1	2	3	2	2	1	2	3	4	1	2	6	3	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.1455A>G	p.=	p.T485T	ENST00000240316	4/7	102	94	8	115	115	0	strelka-varscan-mutect	COIL,synonymous_variant,p.=,ENST00000240316,NM_004645.2;COIL,downstream_gene_variant,,ENST00000573008,;RP5-1107A17.2,upstream_gene_variant,,ENST00000570407,;	C	ENST00000240316	Transcript	synonymous_variant	1490/2650	1455/1731	485/576	T	acA/acG		1		-1	COIL	HGNC	HGNC:2184	protein_coding	YES	CCDS11592.1	ENSP00000240316	P38432		UPI0000131068	NM_004645.2			4/7		hmmpanther:PTHR15197:SF0,hmmpanther:PTHR15197																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	71	56949420	56949420	T	C	1	0	0	0	0	0	0	0	1	3453	1451	51	5		5	COIL	17	56949420	Silent	SNP	T	C3N-01071_TP	3125651	56949420	26308021	306	23293											
EPX	0	.	GRCh38	chr17	58192891	58192891	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggtcctggccacactcgtCctcgcccagccctgtgaggg	4	7	14	16	2	0	1	0	1	0	0	4	1	2	1	5	4	1	0	5	4	0	0	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.45C>A	p.=	p.V15V	ENST00000225371	1/13	663	618	45	527	527	0	strelka-varscan-mutect	EPX,synonymous_variant,p.=,ENST00000225371,NM_000502.4;	A	ENST00000225371	Transcript	synonymous_variant	155/2708	45/2148	15/715	V	gtC/gtA		1		1	EPX	HGNC	HGNC:3423	protein_coding	YES	CCDS11602.1	ENSP00000225371	P11678		UPI0000131629	NM_000502.4			1/13		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11475:SF63,hmmpanther:PTHR11475																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	71	58192891	58192891	C	A	1	0	0	0	0	0	0	0	1	5048	842	30	2		2	EPX	17	58192891	Silent	SNP	C	C3N-01071_TP	1243471	58192891	25064550	307	23294											
TSPOAP1	0	.	GRCh38	chr17	58311993	58311993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagctgagcctccacttggGcctgatagggtgtgccaggc	6	8	16	11	0	0	2	0	2	0	0	1	3	1	3	4	4	3	1	4	4	1	2	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.2828C>G	p.Ala943Gly	p.A943G	ENST00000343736	17/32	111	103	8	96	96	0	strelka-varscan-mutect	TSPOAP1,missense_variant,p.Ala883Gly,ENST00000268893,NM_024418.2;TSPOAP1,missense_variant,p.Ala943Gly,ENST00000343736,NM_001261835.1,NM_004758.3;TSPOAP1,upstream_gene_variant,,ENST00000582679,;TSPOAP1,upstream_gene_variant,,ENST00000580669,;TSPOAP1,upstream_gene_variant,,ENST00000578486,;TSPOAP1,upstream_gene_variant,,ENST00000585149,;	C	ENST00000343736	Transcript	missense_variant	2992/5947	2828/5574	943/1857	A/G	gCc/gGc		1		-1	TSPOAP1	HGNC	HGNC:16831	protein_coding	YES	CCDS11605.1	ENSP00000345824	O95153		UPI000013D7E3	NM_001261835.1,NM_004758.3	deleterious(0.01)		17/32		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF20,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	71	58311993	58311993	G	C	1	0	0	0	0	1	0	0	0	17163	1203	42	4		4	TSPOAP1	17	58311993	Missense_Mutation	SNP	G	C3N-01071_TP	119102	58311993	24945448	308	23295											
USP32	0	.	GRCh38	chr17	60214660	60214660	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcgcatatcttcctctttaAtgcgcagcctttgagataga	9	13	9	10	2	2	2	0	1	2	2	3	3	3	2	2	1	2	2	2	1	3	6	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.1982T>C	p.Ile661Thr	p.I661T	ENST00000300896	17/34	168	140	28	148	148	0	strelka-varscan-mutect	USP32,missense_variant,p.Ile661Thr,ENST00000300896,NM_032582.3;USP32,missense_variant,p.Ile331Thr,ENST00000592339,;USP32,missense_variant,p.Ile658Thr,ENST00000590133,;USP32,missense_variant,p.Ile206Thr,ENST00000591768,;USP32,downstream_gene_variant,,ENST00000587651,;USP32,downstream_gene_variant,,ENST00000589552,;	G	ENST00000300896	Transcript	missense_variant	2177/5171	1982/4815	661/1604	I/T	aTt/aCt		1		-1	USP32	HGNC	HGNC:19143	protein_coding	YES	CCDS32697.1	ENSP00000300896	Q8NFA0		UPI0000047AF8	NM_032582.3	deleterious(0)		17/34		Pfam_domain:PF14836																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	60214660	60214660	A	G	1	0	0	0	0	1	0	0	0	17605	101	4	5		5	USP32	17	60214660	Missense_Mutation	SNP	A	C3N-01071_TP	1902667	60214660	23042781	309	23296											
USP32	0	.	GRCh38	chr17	60219766	60219766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taattccagctctgggatgtCtgtcttgctgttcttgataa	7	17	9	8	0	4	1	0	1	4	0	5	2	5	2	1	1	2	3	1	1	2	6	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1771G>C	p.Asp591His	p.D591H	ENST00000300896	16/34	193	183	10	181	181	0	varscan-mutect	USP32,missense_variant,p.Asp591His,ENST00000300896,NM_032582.3;USP32,missense_variant,p.Asp261His,ENST00000592339,;USP32,missense_variant,p.Asp588His,ENST00000590133,;USP32,missense_variant,p.Asp122His,ENST00000591768,;USP32,3_prime_UTR_variant,,ENST00000589552,;USP32,non_coding_transcript_exon_variant,,ENST00000587651,;	G	ENST00000300896	Transcript	missense_variant	1966/5171	1771/4815	591/1604	D/H	Gac/Cac		1		-1	USP32	HGNC	HGNC:19143	protein_coding	YES	CCDS32697.1	ENSP00000300896	Q8NFA0		UPI0000047AF8	NM_032582.3	tolerated(0.08)		16/34		Gene3D:3jyuB01																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	60219766	60219766	C	G	1	0	0	0	0	1	0	0	0	17605	913	32	4		4	USP32	17	60219766	Missense_Mutation	SNP	C	C3N-01071_TP	5106	60219766	23037675	310	23297											
TBX2	0	.	GRCh38	chr17	61401770	61401770	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggacattgtagccgctgAcgattgccgctataagttcc	9	11	11	10	3	0	1	0	1	0	0	1	4	1	2	3	1	2	4	3	1	3	6	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.482A>T	p.Asp161Val	p.D161V	ENST00000240328	2/7	346	322	24	357	357	0	strelka-varscan-mutect	TBX2,missense_variant,p.Asp161Val,ENST00000240328,NM_005994.3;TBX2-AS1,intron_variant,,ENST00000592009,;TBX2-AS1,upstream_gene_variant,,ENST00000590421,;TBX2-AS1,upstream_gene_variant,,ENST00000591313,;TBX2-AS1,upstream_gene_variant,,ENST00000589814,;RP11-332H18.5,upstream_gene_variant,,ENST00000585765,;TBX2,3_prime_UTR_variant,,ENST00000419047,;TBX2,non_coding_transcript_exon_variant,,ENST00000477081,;	T	ENST00000240328	Transcript	missense_variant	763/3339	482/2139	161/712	D/V	gAc/gTc		1		1	TBX2	HGNC	HGNC:11597	protein_coding	YES	CCDS11627.2	ENSP00000240328	Q13207	A0A024QZ86	UPI000020116F	NM_005994.3	deleterious(0)		2/7		PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF82,Pfam_domain:PF00907,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	61401770	61401770	A	T	1	0	0	0	0	1	0	0	0	16060	275	10	4		4	TBX2	17	61401770	Missense_Mutation	SNP	A	C3N-01071_TP	1182004	61401770	21855671	311	23298											
OTOP3	0	.	GRCh38	chr17	74941791	74941791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctaccaagatccccacgcgGggcccctctgggtgcggggt	5	7	14	15	3	2	1	0	0	2	1	3	1	3	1	5	5	2	0	5	5	2	1	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.472G>A	p.Gly158Arg	p.G158R	ENST00000328801	2/7	104	70	34	69	69	0	strelka-varscan-mutect	OTOP3,missense_variant,p.Gly158Arg,ENST00000328801,NM_001272005.1,NM_178233.2;OTOP3,3_prime_UTR_variant,,ENST00000580749,;	A	ENST00000328801	Transcript	missense_variant	472/2363	472/1791	158/596	G/R	Ggg/Agg		1		1	OTOP3	HGNC	HGNC:19658	protein_coding	YES	CCDS11709.1	ENSP00000328090	Q7RTS5		UPI000019097F	NM_001272005.1,NM_178233.2	deleterious(0)		2/7		hmmpanther:PTHR21522:SF36,hmmpanther:PTHR21522																	MODERATE	1	SNV	2			1										PASS		rs1449985684	.												A	3	1	71	74941791	74941791	G	A	1	0	0	0	0	1	0	0	0	11375	1232	43	3		3	OTOP3	17	74941791	Missense_Mutation	SNP	G	C3N-01071_TP	13540021	74941791	8315650	312	23299											
THOC1	0	.	GRCh38	chr18	214670	214670	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttagactttctgcaaggtCacttaatccagacttattca	12	14	6	9	0	3	2	2	0	1	2	4	2	4	2	1	1	1	2	1	1	4	5	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1930G>C	p.Asp644His	p.D644H	ENST00000261600	21/21	290	275	15	262	262	0	strelka-varscan-mutect	THOC1,missense_variant,p.Asp644His,ENST00000261600,NM_005131.2;THOC1,missense_variant,p.Asp644His,ENST00000616322,;THOC1,3_prime_UTR_variant,,ENST00000631280,;USP14,downstream_gene_variant,,ENST00000261601,NM_005151.3;USP14,downstream_gene_variant,,ENST00000383589,;USP14,downstream_gene_variant,,ENST00000582707,NM_001037334.1;USP14,downstream_gene_variant,,ENST00000400266,;THOC1,downstream_gene_variant,,ENST00000579891,;THOC1,3_prime_UTR_variant,,ENST00000580038,;THOC1,non_coding_transcript_exon_variant,,ENST00000583228,;THOC1,non_coding_transcript_exon_variant,,ENST00000578529,;THOC1,non_coding_transcript_exon_variant,,ENST00000579232,;THOC1,non_coding_transcript_exon_variant,,ENST00000584470,;THOC1,non_coding_transcript_exon_variant,,ENST00000577429,;USP14,downstream_gene_variant,,ENST00000578942,;USP14,downstream_gene_variant,,ENST00000578786,;THOC1,downstream_gene_variant,,ENST00000585307,;	G	ENST00000261600	Transcript	missense_variant	1938/2087	1930/1974	644/657	D/H	Gac/Cac		1		-1	THOC1	HGNC	HGNC:19070	protein_coding	YES	CCDS45820.1	ENSP00000261600	Q96FV9		UPI0000071782	NM_005131.2	deleterious(0.01)		21/21		Gene3D:1.10.533.10,Pfam_domain:PF00531,PROSITE_profiles:PS50017,hmmpanther:PTHR13265,hmmpanther:PTHR13265:SF2,SMART_domains:SM00005,Superfamily_domains:SSF47986																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	214670	214670	C	G	1	0	0	0	0	1	0	0	0	16299	826	29	4		4	THOC1	18	214670	Missense_Mutation	SNP	C	C3N-01071_TP		214670	80158615	313	23300											
LAMA1	0	.	GRCh38	chr18	7014009	7014009	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatggccggtgaccacatCgcaccgatgatgagtcgacc	10	6	12	13	4	0	3	0	3	0	0	2	5	0	3	4	2	0	2	4	2	1	0	rs141907708		C3N-01071_TP	C3N-01071_NB	C	C																c.3169G>T	p.Asp1057Tyr	p.D1057Y	ENST00000389658	23/63	642	585	57	440	439	1	strelka-varscan-mutect	LAMA1,missense_variant,p.Asp1057Tyr,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	A	ENST00000389658	Transcript	missense_variant	3263/9657	3169/9228	1057/3075	D/Y	Gat/Tat	rs141907708,COSM4073155	1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	deleterious(0)		23/63		Gene3D:2.10.25.10,Pfam_domain:PF00053,Prints_domain:PR00011,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs141907708	.												A	3	1	71	7014009	7014009	C	A	1	0	0	0	0	1	0	0	0	8509	884	31	1		1	LAMA1	18	7014009	Missense_Mutation	SNP	C	C3N-01071_TP	6799339	7014009	73359276	314	23301											
VAPA	0	.	GRCh38	chr18	9931858	9931858	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcttaaattgcgaaatccatCggatagaaaagtgtgtttca	14	13	8	6	2	2	1	1	0	1	1	4	3	3	2	1	1	1	1	1	1	6	4			C3N-01071_TP	C3N-01071_NB	C	C																c.128C>G	p.Ser43Trp	p.S43W	ENST00000340541	2/7	206	195	11	185	185	0	varscan-mutect	VAPA,missense_variant,p.Ser43Trp,ENST00000400000,NM_194434.2;VAPA,missense_variant,p.Ser43Trp,ENST00000340541,NM_003574.5;VAPA,non_coding_transcript_exon_variant,,ENST00000584796,;VAPA,3_prime_UTR_variant,,ENST00000585042,;VAPA,non_coding_transcript_exon_variant,,ENST00000577901,;VAPA,non_coding_transcript_exon_variant,,ENST00000583879,;VAPA,upstream_gene_variant,,ENST00000583475,;	G	ENST00000340541	Transcript	missense_variant	323/1227	128/885	43/294	S/W	tCg/tGg	COSM1389985	1		1	VAPA	HGNC	HGNC:12648	protein_coding	YES	CCDS11847.2	ENSP00000345656	Q9P0L0		UPI000059D45E	NM_003574.5	deleterious(0.02)		2/7		PROSITE_profiles:PS50202,hmmpanther:PTHR10809,hmmpanther:PTHR10809:SF40,Pfam_domain:PF00635,PIRSF_domain:PIRSF019693,Gene3D:2.60.40.360,Superfamily_domains:SSF49354											1						MODERATE	1	SNV	5		1	1										PASS		rs955956154	.												G	3	3	71	9931858	9931858	C	G	1	0	0	0	0	1	0	0	0	17666	893	31	4		4	VAPA	18	9931858	Missense_Mutation	SNP	C	C3N-01071_TP	2917849	9931858	70441427	315	23302											
MAPK4	0	.	GRCh38	chr18	50664452	50664452	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagaggacctcgtgctcaAgattggggatttcgggttgg	8	10	15	8	2	1	2	1	0	0	2	3	4	1	4	1	5	1	2	1	5	1	3	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.494A>G	p.Lys165Arg	p.K165R	ENST00000400384	2/6	79	70	9	70	70	0	strelka-varscan-mutect	MAPK4,missense_variant,p.Lys165Arg,ENST00000400384,NM_002747.3;MAPK4,missense_variant,p.Lys165Arg,ENST00000592595,NM_001292040.1;MAPK4,missense_variant,p.Lys165Arg,ENST00000588540,;MAPK4,intron_variant,,ENST00000540640,NM_001292039.1;MAPK4,non_coding_transcript_exon_variant,,ENST00000587823,;MAPK4,downstream_gene_variant,,ENST00000586735,;	G	ENST00000400384	Transcript	missense_variant	1530/4770	494/1764	165/587	K/R	aAg/aGg		1		1	MAPK4	HGNC	HGNC:6878	protein_coding	YES	CCDS42437.1	ENSP00000383234	P31152		UPI0000201D20	NM_002747.3	deleterious(0.03)		2/6		PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF25,hmmpanther:PTHR24055,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR01771																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	50664452	50664452	A	G	1	0	0	0	0	1	0	0	0	9204	72	3	5		5	MAPK4	18	50664452	Missense_Mutation	SNP	A	C3N-01071_TP	40732594	50664452	29708833	316	23303											
MAPK4	0	.	GRCh38	chr18	50715217	50715217	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttacggggagaatgctcTttgctggtgagttgctaact	7	14	13	7	1	1	2	0	1	1	1	1	3	1	2	0	3	6	5	0	3	3	4	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.685T>C	p.Phe229Leu	p.F229L	ENST00000400384	3/6	102	86	16	114	114	0	strelka-varscan-mutect	MAPK4,missense_variant,p.Phe229Leu,ENST00000400384,NM_002747.3;MAPK4,missense_variant,p.Phe229Leu,ENST00000592595,NM_001292040.1;MAPK4,missense_variant,p.Phe18Leu,ENST00000540640,NM_001292039.1;	C	ENST00000400384	Transcript	missense_variant	1721/4770	685/1764	229/587	F/L	Ttt/Ctt		1		1	MAPK4	HGNC	HGNC:6878	protein_coding	YES	CCDS42437.1	ENSP00000383234	P31152		UPI0000201D20	NM_002747.3	deleterious(0)		3/6		PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF25,hmmpanther:PTHR24055,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR01771																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	71	50715217	50715217	T	C	1	0	0	0	0	1	0	0	0	9204	1609	56	5		5	MAPK4	18	50715217	Missense_Mutation	SNP	T	C3N-01071_TP	50765	50715217	29658068	317	23304											
RAX	0	.	GRCh38	chr18	59272508	59272508	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccgccgatgctttttcttGggctgttcctcctctgacag	3	16	9	13	2	2	1	0	1	2	0	5	2	5	1	4	1	1	3	4	1	0	5	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.396C>G	p.=	p.P132P	ENST00000334889	2/3	503	466	37	392	392	0	strelka-varscan-mutect	RAX,synonymous_variant,p.=,ENST00000334889,NM_013435.2;RAX,intron_variant,,ENST00000256852,;CPLX4,downstream_gene_variant,,ENST00000587244,;RAX,downstream_gene_variant,,ENST00000555288,;RAX,non_coding_transcript_exon_variant,,ENST00000591550,;	C	ENST00000334889	Transcript	synonymous_variant	583/3197	396/1041	132/346	P	ccC/ccG		1		-1	RAX	HGNC	HGNC:18662	protein_coding	YES	CCDS11972.1	ENSP00000334813	Q9Y2V3		UPI000013CF2F	NM_013435.2			2/3		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF302,Gene3D:1.10.10.60,Superfamily_domains:SSF46689																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	71	59272508	59272508	G	C	1	0	0	0	0	0	0	0	1	13257	1335	47	4		4	RAX	18	59272508	Silent	SNP	G	C3N-01071_TP	8557291	59272508	21100777	318	23305											
C3	0	.	GRCh38	chr19	6718268	6718268	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagccaggggtgtagaTggtcttgtctgtctggatga	6	13	17	5	0	3	2	0	1	3	1	3	4	3	4	1	5	1	1	1	5	1	2	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.412A>C	p.Ile138Leu	p.I138L	ENST00000245907	3/41	766	694	72	690	689	1	strelka-varscan-mutect	C3,missense_variant,p.Ile138Leu,ENST00000245907,NM_000064.3;C3,missense_variant,p.Ile97Leu,ENST00000600744,;CTD-3128G10.7,upstream_gene_variant,,ENST00000614781,;C3,upstream_gene_variant,,ENST00000597442,;C3,upstream_gene_variant,,ENST00000594270,;C3,non_coding_transcript_exon_variant,,ENST00000594936,;C3,upstream_gene_variant,,ENST00000595577,;	G	ENST00000245907	Transcript	missense_variant	505/5263	412/4992	138/1663	I/L	Atc/Ctc		1		-1	C3	HGNC	HGNC:1318	protein_coding	YES	CCDS32883.1	ENSP00000245907	P01024	V9HWA9	UPI000013EC9B	NM_000064.3	tolerated(0.13)		3/41		hmmpanther:PTHR11412:SF90,hmmpanther:PTHR11412,Pfam_domain:PF01835																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	6718268	6718268	T	G	1	0	0	0	0	1	0	0	0	2057	1464	51	5		5	C3	19	6718268	Missense_Mutation	SNP	T	C3N-01071_TP		6718268	51899348	319	23306											
SMARCA4	0	.	GRCh38	chr19	11059810	11059810	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtgcggcagaaaatcGagaaggaggatgacagtgaa	15	4	15	7	3	0	4	0	2	0	2	1	7	0	6	1	3	2	1	1	3	4	0	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.4693G>T	p.Glu1565Ter	p.E1565*	ENST00000429416	34/36	486	418	68	465	464	1	strelka-varscan-mutect	SMARCA4,stop_gained,p.Glu1565Ter,ENST00000429416,NM_001128844.1;SMARCA4,stop_gained,p.Glu1599Ter,ENST00000413806,;SMARCA4,stop_gained,p.Glu1597Ter,ENST00000450717,NM_001128849.1;SMARCA4,stop_gained,p.Glu1565Ter,ENST00000344626,NM_003072.3;SMARCA4,stop_gained,p.Glu1532Ter,ENST00000590574,NM_001128847.1;SMARCA4,stop_gained,p.Glu1534Ter,ENST00000589677,NM_001128846.1;SMARCA4,stop_gained,p.Glu1535Ter,ENST00000541122,NM_001128845.1;SMARCA4,stop_gained,p.Glu1531Ter,ENST00000444061,NM_001128848.1;SMARCA4,stop_gained,p.Glu39Ter,ENST00000586985,;SMARCA4,upstream_gene_variant,,ENST00000586921,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;	T	ENST00000429416	Transcript	stop_gained	4974/5691	4693/4944	1565/1647	E/*	Gag/Tag		1		1	SMARCA4	HGNC	HGNC:11100	protein_coding	YES	CCDS12253.1	ENSP00000395654	P51532	A7E2E1	UPI000006F973	NM_001128844.1			34/36		SMART_domains:SM00297,Superfamily_domains:SSF47370																	HIGH	1	SNV	2			1										PASS		rs1375203306	.												T	4	4	71	11059810	11059810	G	T	1	0	0	0	0	0	1	0	0	15063	1059	37	1		1	SMARCA4	19	11059810	Nonsense_Mutation	SNP	G	C3N-01071_TP	4341542	11059810	47557806	320	23307											
NWD1	0	.	GRCh38	chr19	16808107	16808107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgggacctgcaggcaCgcaagtggaaattcgagatg	10	8	14	9	2	1	1	0	0	1	1	3	4	1	3	1	3	1	3	1	3	2	1	rs147984852		C3N-01071_TP	C3N-01071_NB	C	C																c.4258C>T	p.Arg1420Cys	p.R1420C	ENST00000524140	18/19	203	170	33	196	196	0	strelka-varscan-mutect	NWD1,missense_variant,p.Arg1420Cys,ENST00000524140,NM_001007525.3;NWD1,missense_variant,p.Arg1420Cys,ENST00000379808,;NWD1,missense_variant,p.Arg1420Cys,ENST00000552788,NM_001290355.1;NWD1,missense_variant,p.Arg1378Cys,ENST00000549814,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;	T	ENST00000524140	Transcript	missense_variant	4676/7641	4258/4299	1420/1432	R/C	Cgc/Tgc	rs147984852,COSM4075219,COSM4075220	1		1	NWD1	HGNC	HGNC:27619	protein_coding	YES	CCDS32945.2	ENSP00000428579	Q149M9		UPI0000D6173E	NM_001007525.3	tolerated(1)		18/19		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,Superfamily_domains:SSF50978											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs147984852	.												T	3	4	71	16808107	16808107	C	T	1	0	0	0	0	1	0	0	0	10854	536	19	1		1	NWD1	19	16808107	Missense_Mutation	SNP	C	C3N-01071_TP	5748297	16808107	41809509	321	23308											
NR2F6	0	.	GRCh38	chr19	17235751	17235751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcagcagcgccacctggtCggccaccggcagctcgggga	6	3	16	16	5	0	0	0	0	0	0	2	1	0	1	4	5	3	4	4	5	0	0	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.688G>A	p.Asp230Asn	p.D230N	ENST00000291442	3/4	174	161	13	151	151	0	strelka-varscan-mutect	NR2F6,missense_variant,p.Asp230Asn,ENST00000291442,NM_005234.3;NR2F6,missense_variant,p.Asp110Asn,ENST00000596878,;AC010646.3,downstream_gene_variant,,ENST00000594059,;	T	ENST00000291442	Transcript	missense_variant	1408/2404	688/1215	230/404	D/N	Gac/Aac		1		-1	NR2F6	HGNC	HGNC:7977	protein_coding	YES	CCDS12352.1	ENSP00000291442	P10588	F1D8R3	UPI0000129B28	NM_005234.3	deleterious(0)		3/4		Gene3D:1.10.565.10,Pfam_domain:PF00104,Prints_domain:PR00398,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF44,SMART_domains:SM00430,Superfamily_domains:SSF48508																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	17235751	17235751	C	T	1	0	0	0	0	1	0	0	0	10685	884	31	1		1	NR2F6	19	17235751	Missense_Mutation	SNP	C	C3N-01071_TP	427644	17235751	41381865	322	23309											
ZNF493	0	.	GRCh38	chr19	21424173	21424173	+	Frame_Shift_Del	DEL	G	G	-																															taaccaatcttcaacccttaGtatacataaaataattcata																								novel		C3N-01071_TP	C3N-01071_NB	G	G																c.1514delG	p.Ser505IlefsTer5	p.S505Ifs*5	ENST00000392288	4/4	197	164	33	218	218	0	sindel-varindel-pindel	ZNF493,frameshift_variant,p.Ser505IlefsTer5,ENST00000392288,NM_001076678.2;ZNF493,frameshift_variant,p.Ser377IlefsTer5,ENST00000355504,NM_175910.6;ZNF493,downstream_gene_variant,,ENST00000596302,;CTD-2561J22.3,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,;	-	ENST00000392288	Transcript	frameshift_variant	1623/5023	1514/2325	505/774	S/X	aGt/at		1		1	ZNF493	HGNC	HGNC:23708	protein_coding	YES	CCDS42536.1	ENSP00000376110	Q6ZR52		UPI000022ABBF	NM_001076678.2			4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF247,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	71	21424173	21424173	G	-	1	0	1	0	1	0	0	0	0	18517	1029	36	0		0	ZNF493	19	21424173	Frame_Shift_Del	DEL	G	C3N-01071_TP	4188422	21424173	37193443	323	23310											
FFAR3	0	.	GRCh38	chr19	35359767	35359767	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcatgagctgctgaggAggttgtgtgggctctggggc	5	12	17	7	0	2	2	1	2	1	0	2	3	2	3	0	5	2	4	0	5	0	2	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.877A>C	p.=	p.R293R	ENST00000327809	2/2	500	440	60	513	513	0	varscan-mutect	FFAR3,synonymous_variant,p.=,ENST00000327809,NM_005304.3;FFAR3,synonymous_variant,p.=,ENST00000594310,;	C	ENST00000327809	Transcript	synonymous_variant	1078/1796	877/1041	293/346	R	Agg/Cgg		1		1	FFAR3	HGNC	HGNC:4499	protein_coding	YES	CCDS12459.1	ENSP00000328230	O14843	A0A0K0PUW7	UPI0000001C3F	NM_005304.3			2/2		hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF40,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	71	35359767	35359767	A	C	1	0	0	0	0	0	0	0	1	5692	295	11	5		5	FFAR3	19	35359767	Silent	SNP	A	C3N-01071_TP	13935594	35359767	23257849	324	23311											
GPR42	0	.	GRCh38	chr19	35372236	35372236	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcatgagctgctgaggAggttgtgtgggctctggggc	5	12	17	7	0	2	2	1	2	1	0	2	3	2	3	0	5	2	4	0	5	0	2	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.877A>C	p.=	p.R293R	ENST00000597214	1/1	71	64	7	68	68	0	varscan-mutect	GPR42,synonymous_variant,p.=,ENST00000454971,;GPR42,synonymous_variant,p.=,ENST00000597214,;	C	ENST00000597214	Transcript	synonymous_variant	947/1182	877/1041	293/346	R	Agg/Cgg		1		1	GPR42	HGNC	HGNC:4500	protein_coding	YES		ENSP00000473212	O15529	A0A0K0PUY3	UPI0000040740				1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF40,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												C	2	2	71	35372236	35372236	A	C	1	0	0	0	0	0	0	0	1	6580	295	11	5		5	GPR42	19	35372236	Silent	SNP	A	C3N-01071_TP	12469	35372236	23245380	325	23312											
ZNF420	0	.	GRCh38	chr19	37128282	37128282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaagcgtttaatcgtGgctcactccttacacgacac	11	10	9	11	3	1	0	1	0	0	0	3	2	2	1	1	2	2	2	1	2	4	3	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.1291G>T	p.Gly431Cys	p.G431C	ENST00000337995	5/5	234	217	17	203	203	0	strelka-varscan-mutect	ZNF420,missense_variant,p.Gly431Cys,ENST00000337995,NM_144689.3;ZNF420,missense_variant,p.Gly431Cys,ENST00000304239,;ZNF420,missense_variant,p.Gly40Cys,ENST00000585862,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF420,downstream_gene_variant,,ENST00000589245,;ZNF420,downstream_gene_variant,,ENST00000587029,;ZNF420,downstream_gene_variant,,ENST00000590332,;CTC-454I21.4,downstream_gene_variant,,ENST00000587645,;ZNF585A,intron_variant,,ENST00000588723,;ZNF420,upstream_gene_variant,,ENST00000586540,;ZNF585A,intron_variant,,ENST00000587817,;ZNF420,downstream_gene_variant,,ENST00000589461,;	T	ENST00000337995	Transcript	missense_variant	1506/3535	1291/2067	431/688	G/C	Ggc/Tgc		1		1	ZNF420	HGNC	HGNC:20649	protein_coding	YES	CCDS12498.1	ENSP00000338770	Q8TAQ5		UPI000007049F	NM_144689.3	tolerated(0.19)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF290,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	37128282	37128282	G	T	1	0	0	0	0	1	0	0	0	18469	1348	47	2		2	ZNF420	19	37128282	Missense_Mutation	SNP	G	C3N-01071_TP	1756046	37128282	21489334	326	23313											
ZNF585B	0	.	GRCh38	chr19	37186533	37186534	+	Frame_Shift_Ins	INS	-	-	AGACCTTCCC																															gaggttggaattattgctgaINSagaccttcccatattcggta																								novel		C3N-01071_TP	C3N-01071_NB	-	-																c.994_1003dupGGGAAGGTCT	p.Phe335TrpfsTer7	p.F335Wfs*7	ENST00000532828	5/5	254	210	44	236	236	0	sindel-varindel	ZNF585B,frameshift_variant,p.Phe335TrpfsTer7,ENST00000532828,NM_152279.3;ZNF585B,frameshift_variant,p.Phe280TrpfsTer7,ENST00000531805,;ZNF585B,3_prime_UTR_variant,,ENST00000527838,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585B,downstream_gene_variant,,ENST00000591492,;ZNF585B,downstream_gene_variant,,ENST00000586320,;CTC-454I21.3,intron_variant,,ENST00000585860,;CTC-454I21.3,intron_variant,,ENST00000590245,;ZNF585B,downstream_gene_variant,,ENST00000392156,;ZNF585B,downstream_gene_variant,,ENST00000591273,;ZNF585B,downstream_gene_variant,,ENST00000526705,;	AGACCTTCCC	ENST00000532828	Transcript	frameshift_variant	1255-1256/6210	1003-1004/2310	335/769	F/WEGLX	ttc/tGGGAAGGTCTtc		1		-1	ZNF585B	HGNC	HGNC:30948	protein_coding	YES	CCDS12500.1	ENSP00000433773	Q52M93		UPI00001AF01B	NM_152279.3			5/5		PROSITE_profiles:PS50157,Gene3D:3.30.160.60,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	HIGH	1	insertion	1			1										PASS		.	.												AGACCTTCCC	7	5	71	37186533	37186533	-	AGACCTTCCC	1	0	1	1	0	0	0	0	0	18592	246	9	0		0	ZNF585B	19	37186533	Frame_Shift_Ins	INS	-	C3N-01071_TP	58251	37186533	21431083	327	23314											
LRFN1	0	.	GRCh38	chr19	39314067	39314067	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccacgagccgacgctcagCcgcagaatcgttggcacctg	8	6	12	15	5	1	1	1	0	0	1	2	3	1	1	4	1	3	4	4	1	1	1	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1270G>T	p.Ala424Ser	p.A424S	ENST00000248668	1/2	278	226	52	225	224	1	strelka-varscan-mutect	LRFN1,missense_variant,p.Ala424Ser,ENST00000248668,NM_020862.1;CTC-246B18.8,downstream_gene_variant,,ENST00000601911,;	A	ENST00000248668	Transcript	missense_variant	1270/3381	1270/2316	424/771	A/S	Gct/Tct		1		-1	LRFN1	HGNC	HGNC:29290	protein_coding	YES	CCDS46071.1	ENSP00000248668	Q9P244		UPI00001A5C55	NM_020862.1	tolerated(0.75)		1/2		PROSITE_profiles:PS50853,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF34,SMART_domains:SM00060																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	39314067	39314067	C	A	1	0	0	0	0	1	0	0	0	8831	739	26	2		2	LRFN1	19	39314067	Missense_Mutation	SNP	C	C3N-01071_TP	2127534	39314067	19303549	328	23315											
CYP2A6	0	.	GRCh38	chr19	40845347	40845347	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttttgactctgcgggccaAactcatggggatcacgtctc	7	12	10	12	2	4	1	2	1	2	0	5	2	4	2	1	3	2	0	1	3	1	2	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.1108T>G	p.Leu370Val	p.L370V	ENST00000301141	7/9	448	361	87	377	377	0	strelka-varscan-mutect	CYP2A6,missense_variant,p.Leu370Val,ENST00000301141,NM_000762.5;CTC-490E21.11,downstream_gene_variant,,ENST00000623128,;CYP2A6,non_coding_transcript_exon_variant,,ENST00000596719,;CTC-490E21.12,intron_variant,,ENST00000601627,;CYP2A6,downstream_gene_variant,,ENST00000600495,;CYP2A6,upstream_gene_variant,,ENST00000599960,;	C	ENST00000301141	Transcript	missense_variant	1129/1764	1108/1485	370/494	L/V	Ttg/Gtg		1		-1	CYP2A6	HGNC	HGNC:2610	protein_coding	YES	CCDS12568.1	ENSP00000301141	P11509		UPI0000157752	NM_000762.5	tolerated(0.94)		7/9		hmmpanther:PTHR24300:SF186,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	71	40845347	40845347	A	C	1	0	0	0	0	1	0	0	0	3965	11	1	5		5	CYP2A6	19	40845347	Missense_Mutation	SNP	A	C3N-01071_TP	1531280	40845347	17772269	329	23316											
CD79A	0	.	GRCh38	chr19	41879539	41879539	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactacctccttgcagagccGccccccaggcccttcctgga	6	8	8	19	1	0	1	0	0	0	1	2	2	2	2	8	2	4	1	8	2	2	4	rs782014534		C3N-01071_TP	C3N-01071_NB	G	G																c.384G>T	p.=	p.P128P	ENST00000221972	3/5	120	112	8	89	89	0	strelka-varscan-mutect	CD79A,missense_variant,p.Arg210Leu,ENST00000597454,;CD79A,synonymous_variant,p.=,ENST00000221972,NM_001783.3;CD79A,synonymous_variant,p.=,ENST00000444740,NM_021601.3;ARHGEF1,upstream_gene_variant,,ENST00000599846,;ARHGEF1,upstream_gene_variant,,ENST00000354532,NM_004706.3;ARHGEF1,upstream_gene_variant,,ENST00000337665,NM_199002.1;ARHGEF1,upstream_gene_variant,,ENST00000347545,NM_198977.1;ARHGEF1,upstream_gene_variant,,ENST00000378152,;ARHGEF1,upstream_gene_variant,,ENST00000596957,;ARHGEF1,upstream_gene_variant,,ENST00000600274,;ARHGEF1,upstream_gene_variant,,ENST00000600387,;	T	ENST00000221972	Transcript	synonymous_variant	569/1258	384/681	128/226	P	ccG/ccT	rs782014534,COSM5074765	1		1	CD79A	HGNC	HGNC:1698	protein_coding	YES	CCDS12589.1	ENSP00000221972	P11912		UPI000011398E	NM_001783.3			3/5		Gene3D:2.60.40.10,hmmpanther:PTHR14334,hmmpanther:PTHR14334:SF1,Superfamily_domains:SSF48726											0,1						LOW	1	SNV	1		0,1	1										PASS		rs782014534	.												T	2	4	71	41879539	41879539	G	T	1	0	0	0	0	0	0	0	1	2740	1101	38	1		1	CD79A	19	41879539	Silent	SNP	G	C3N-01071_TP	1034192	41879539	16738077	330	23317											
ARHGAP35	0	.	GRCh38	chr19	46922175	46922175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatgcacccggctggggcGgtttgctagttaccggacca	7	8	15	11	3	0	1	0	0	0	1	0	3	0	2	3	5	3	5	3	5	2	3	rs759708637		C3N-01071_TP	C3N-01071_NB	G	G																c.3500G>T	p.Arg1167Leu	p.R1167L	ENST00000404338	1/6	171	134	37	183	183	0	strelka-varscan-mutect	ARHGAP35,missense_variant,p.Arg1167Leu,ENST00000404338,NM_004491.4;ARHGAP35,missense_variant,p.Arg1167Leu,ENST00000614079,;ARHGAP35,intron_variant,,ENST00000615647,;	T	ENST00000404338	Transcript	missense_variant	3500/8889	3500/4500	1167/1499	R/L	cGg/cTg	rs759708637	1		1	ARHGAP35	HGNC	HGNC:4591	protein_coding	YES	CCDS46127.1	ENSP00000385720	Q9NRY4		UPI0000163F71	NM_004491.4	deleterious(0.01)		1/6																			MODERATE	1	SNV	1			1										PASS		rs759708637	.												T	3	4	71	46922175	46922175	G	T	1	0	0	0	0	1	0	0	0	1008	1116	39	1		1	ARHGAP35	19	46922175	Missense_Mutation	SNP	G	C3N-01071_TP	5042636	46922175	11695441	331	23318											
GLTSCR1	0	.	GRCh38	chr19	47694439	47694439	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccccagtcccagccgcctGagggaccgctgcccccagcc	5	3	11	22	2	0	1	0	1	0	0	1	2	1	2	9	1	3	1	9	1	0	0	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.2608G>C	p.Glu870Gln	p.E870Q	ENST00000396720	8/15	128	98	30	133	133	0	strelka-varscan-mutect	GLTSCR1,missense_variant,p.Glu870Gln,ENST00000396720,NM_015711.3;GLTSCR1,missense_variant,p.Glu818Gln,ENST00000614245,;CTD-2571L23.8,intron_variant,,ENST00000599924,;	C	ENST00000396720	Transcript	missense_variant	2802/5739	2608/4683	870/1560	E/Q	Gag/Cag		1		1	GLTSCR1	HGNC	HGNC:4332	protein_coding	YES	CCDS46134.1	ENSP00000379946	Q9NZM4		UPI00016278EE	NM_015711.3	tolerated(0.7)		8/15		Low_complexity_(Seg):seg,hmmpanther:PTHR15572:SF1,hmmpanther:PTHR15572																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	71	47694439	47694439	G	C	1	0	0	0	0	1	0	0	0	6350	1291	45	4		4	GLTSCR1	19	47694439	Missense_Mutation	SNP	G	C3N-01071_TP	772264	47694439	10923177	332	23319											
ZNF845	0	.	GRCh38	chr19	53352834	53352834	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactggagagaaaccttacaAgtgtaatgagtgtggcaagg	14	9	13	5	0	0	2	0	1	0	1	0	4	0	3	1	3	3	2	1	3	6	3	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.2159A>C	p.Lys720Thr	p.K720T	ENST00000458035	4/4	269	249	20	248	248	0	strelka-varscan-mutect	ZNF845,missense_variant,p.Lys720Thr,ENST00000458035,NM_138374.1;ZNF845,missense_variant,p.Lys720Thr,ENST00000595091,;ZNF525,intron_variant,,ENST00000635711,;ZNF845,downstream_gene_variant,,ENST00000601857,;	C	ENST00000458035	Transcript	missense_variant	2276/4311	2159/2913	720/970	K/T	aAg/aCg		1		1	ZNF845	HGNC	HGNC:25112	protein_coding	YES	CCDS46170.1	ENSP00000388311	Q96IR2		UPI0001662BAC	NM_138374.1	deleterious(0.02)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF162,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	4			1										PASS		.	.												C	3	2	71	53352834	53352834	A	C	1	0	0	0	0	1	0	0	0	18779	72	3	5		5	ZNF845	19	53352834	Missense_Mutation	SNP	A	C3N-01071_TP	5658395	53352834	5264782	333	23320											
RFPL4A	0	.	GRCh38	chr19	55762886	55762886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgactgtgggttgcaGagaaggaaaggtctttgctg	8	13	14	6	0	2	2	0	1	2	1	2	4	2	3	0	3	2	3	0	3	2	4	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.575G>T	p.Arg192Ile	p.R192I	ENST00000434937	3/3	1107	981	126	1071	1071	0	varscan-mutect	RFPL4A,missense_variant,p.Arg192Ile,ENST00000434937,NM_001145014.1;	T	ENST00000434937	Transcript	missense_variant	746/1035	575/864	192/287	R/I	aGa/aTa		1		1	RFPL4A	HGNC	HGNC:16449	protein_coding	YES	CCDS46201.1	ENSP00000392936	A6NLU0		UPI0000D6181F	NM_001145014.1	deleterious(0)		3/3		PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF228,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	71	55762886	55762886	G	T	1	0	0	0	0	1	0	0	0	13428	942	33	2		2	RFPL4A	19	55762886	Missense_Mutation	SNP	G	C3N-01071_TP	2410052	55762886	2854730	334	23321											
SNPH	0	.	GRCh38	chr20	1304883	1304883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcggctcgcagggacaCagagattgatgacctgaaga	11	7	12	11	2	0	5	0	3	0	2	3	7	1	6	2	2	0	2	2	2	1	1			C3N-01071_TP	C3N-01071_NB	C	C																c.314C>A	p.Thr105Lys	p.T105K	ENST00000381873	6/6	112	98	14	103	103	0	strelka-varscan-mutect	SNPH,missense_variant,p.Thr149Lys,ENST00000381867,NM_001318234.1;SNPH,missense_variant,p.Thr149Lys,ENST00000614659,;SNPH,missense_variant,p.Thr105Lys,ENST00000381873,NM_014723.2;	A	ENST00000381873	Transcript	missense_variant	550/4995	314/1485	105/494	T/K	aCa/aAa	COSM4728692,COSM4728693	1		1	SNPH	HGNC	HGNC:15931	protein_coding	YES	CCDS13012.1	ENSP00000371297	O15079		UPI000007424E	NM_014723.2	deleterious(0.03)		6/6		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16208:SF1,hmmpanther:PTHR16208,Pfam_domain:PF15290											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	71	1304883	1304883	C	A	1	0	0	0	0	1	0	0	0	15170	492	17	2		2	SNPH	20	1304883	Missense_Mutation	SNP	C	C3N-01071_TP		1304883	63139284	335	23322											
SNPH	0	.	GRCh38	chr20	1304944	1304944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggactggattgaggaggaGtgccaccgcgtggaggccca	9	5	18	9	2	0	1	0	1	0	0	0	7	0	6	3	6	1	0	3	6	0	1	rs145538484		C3N-01071_TP	C3N-01071_NB	G	G																c.375G>T	p.Glu125Asp	p.E125D	ENST00000381873	6/6	284	255	29	252	252	0	strelka-varscan-mutect	SNPH,missense_variant,p.Glu169Asp,ENST00000381867,NM_001318234.1;SNPH,missense_variant,p.Glu169Asp,ENST00000614659,;SNPH,missense_variant,p.Glu125Asp,ENST00000381873,NM_014723.2;SDCBP2,downstream_gene_variant,,ENST00000381812,;	T	ENST00000381873	Transcript	missense_variant	611/4995	375/1485	125/494	E/D	gaG/gaT	rs145538484	1		1	SNPH	HGNC	HGNC:15931	protein_coding	YES	CCDS13012.1	ENSP00000371297	O15079		UPI000007424E	NM_014723.2	deleterious(0)		6/6		hmmpanther:PTHR16208:SF1,hmmpanther:PTHR16208,Pfam_domain:PF15290																	MODERATE	1	SNV	1			1										PASS		rs145538484	.												T	3	4	71	1304944	1304944	G	T	1	0	0	0	0	1	0	0	0	15170	1020	36	2		2	SNPH	20	1304944	Missense_Mutation	SNP	G	C3N-01071_TP	61	1304944	63139223	336	23323											
CDC25B	0	.	GRCh38	chr20	3802933	3802933	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcctacagacagtagaCggaaagcaccaagacctcaa	15	6	7	13	1	1	3	1	0	0	3	3	4	3	4	4	1	2	2	4	1	5	3	rs371343744		C3N-01071_TP	C3N-01071_NB	C	C																c.1218C>G	p.Asp406Glu	p.D406E	ENST00000245960	12/16	294	268	26	239	239	0	strelka-varscan-mutect	CDC25B,missense_variant,p.Asp406Glu,ENST00000245960,NM_001287519.1,NM_001287520.1,NM_021873.3;CDC25B,missense_variant,p.Asp392Glu,ENST00000439880,NM_004358.4;CDC25B,missense_variant,p.Asp342Glu,ENST00000344256,NM_001287516.1,NM_001287517.1;CDC25B,missense_variant,p.Asp315Glu,ENST00000379598,NM_001287518.1;CDC25B,missense_variant,p.Asp365Glu,ENST00000340833,NM_001287522.1,NM_021872.3;CDC25B,non_coding_transcript_exon_variant,,ENST00000467519,;CDC25B,non_coding_transcript_exon_variant,,ENST00000480816,;CDC25B,non_coding_transcript_exon_variant,,ENST00000468979,;CDC25B,non_coding_transcript_exon_variant,,ENST00000495915,;	G	ENST00000245960	Transcript	missense_variant	1915/3597	1218/1743	406/580	D/E	gaC/gaG	rs371343744	1		1	CDC25B	HGNC	HGNC:1726	protein_coding	YES	CCDS13067.1	ENSP00000245960	P30305		UPI000012F474	NM_001287519.1,NM_001287520.1,NM_021873.3	tolerated(0.47)		12/16		Gene3D:3.40.250.10,Prints_domain:PR00716,hmmpanther:PTHR10828,hmmpanther:PTHR10828:SF48,Superfamily_domains:SSF52821																	MODERATE	1	SNV	1			1										PASS		rs371343744	.												G	3	3	71	3802933	3802933	C	G	1	0	0	0	0	1	0	0	0	2766	535	19	4		4	CDC25B	20	3802933	Missense_Mutation	SNP	C	C3N-01071_TP	2497989	3802933	60641234	337	23324											
PCSK2	0	.	GRCh38	chr20	17453904	17453904	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacgagagctgctcttccAccttggcttccaccttcagc	7	10	8	16	2	2	1	1	0	1	1	4	3	4	1	4	1	3	3	4	1	0	4	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.1048A>T	p.Thr350Ser	p.T350S	ENST00000262545	9/12	507	453	54	377	377	0	strelka-varscan-mutect	PCSK2,missense_variant,p.Thr350Ser,ENST00000262545,NM_002594.4;PCSK2,missense_variant,p.Thr331Ser,ENST00000377899,NM_001201528.1;PCSK2,missense_variant,p.Thr315Ser,ENST00000536609,NM_001201529.2;	T	ENST00000262545	Transcript	missense_variant	1363/4740	1048/1917	350/638	T/S	Acc/Tcc		1		1	PCSK2	HGNC	HGNC:8744	protein_coding	YES	CCDS13125.1	ENSP00000262545	P16519		UPI0000000C6E	NM_002594.4	deleterious(0.01)		9/12		Gene3D:3.40.50.200,Pfam_domain:PF00082,hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF11,Superfamily_domains:SSF52743																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	17453904	17453904	A	T	1	0	0	0	0	1	0	0	0	11689	159	6	4		4	PCSK2	20	17453904	Missense_Mutation	SNP	A	C3N-01071_TP	13650971	17453904	46990263	338	23325											
RALGAPA2	0	.	GRCh38	chr20	20472827	20472827	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacatttaaagcaaaaagatAcaagctctggtagagtggga	17	8	10	6	0	1	2	0	0	1	2	1	3	1	3	0	2	3	3	0	2	7	4	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.5495+2T>C		p.X1832_splice	ENST00000202677		134	118	16	123	123	0	strelka-varscan-mutect	RALGAPA2,splice_donor_variant,,ENST00000430436,;RALGAPA2,splice_donor_variant,,ENST00000202677,NM_020343.3;RALGAPA2,splice_donor_variant,,ENST00000620717,;RALGAPA2,missense_variant,p.Tyr244His,ENST00000427175,;	G	ENST00000202677	Transcript	splice_donor_variant	-/6152	5495/5622	1832/1873				1		-1	RALGAPA2	HGNC	HGNC:16207	protein_coding	YES	CCDS46584.1	ENSP00000202677	Q2PPJ7		UPI000040F987	NM_020343.3				37/39																		HIGH	1	SNV	5			1										PASS		.	.												G	5	3	71	20472827	20472827	A	G	1	0	0	0	0	0	0	1	0	13173	405	14	5		5	RALGAPA2	20	20472827	Splice_Site	SNP	A	C3N-01071_TP	3018923	20472827	43971340	339	23326											
GSS	0	.	GRCh38	chr20	34929460	34929460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccactcgggcagggctGccaggccgtagcaggcaatt	8	6	15	12	2	0	0	0	0	0	0	1	1	0	1	3	5	2	5	3	5	2	2	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.1242C>T	p.=	p.G414G	ENST00000216951	12/13	406	382	24	324	324	0	strelka-varscan-mutect	GSS,synonymous_variant,p.=,ENST00000216951,NM_001322494.1,NM_000178.2;GSS,synonymous_variant,p.=,ENST00000451957,;ACSS2,downstream_gene_variant,,ENST00000360596,NM_001242393.1,NM_018677.3;ACSS2,downstream_gene_variant,,ENST00000253382,NM_001076552.2;ACSS2,downstream_gene_variant,,ENST00000476922,;ACSS2,downstream_gene_variant,,ENST00000481284,;ACSS2,downstream_gene_variant,,ENST00000477932,;ACSS2,downstream_gene_variant,,ENST00000494727,;ACSS2,downstream_gene_variant,,ENST00000491533,;ACSS2,downstream_gene_variant,,ENST00000480978,;	A	ENST00000216951	Transcript	synonymous_variant	1341/1922	1242/1425	414/474	G	ggC/ggT		1		-1	GSS	HGNC	HGNC:4624	protein_coding	YES	CCDS13245.1	ENSP00000216951	P48637	V9HWJ1	UPI0000111B5F	NM_001322494.1,NM_000178.2			12/13		Pfam_domain:PF03917,PIRSF_domain:PIRSF001558,hmmpanther:PTHR11130,Superfamily_domains:SSF56059,TIGRFAM_domain:TIGR01986																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	71	34929460	34929460	G	A	1	0	0	0	0	0	0	0	1	6713	1306	46	3		3	GSS	20	34929460	Silent	SNP	G	C3N-01071_TP	14456633	34929460	29514707	340	23327											
GSS	0	.	GRCh38	chr20	34942976	34942976	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgtggatgtcaaagagAcgagcggtaaagtcatcctg	11	10	13	7	2	2	1	2	0	0	1	3	4	3	2	1	2	2	2	1	2	3	2	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.306T>C	p.=	p.R102R	ENST00000216951	4/13	675	610	65	618	618	0	strelka-varscan-mutect	GSS,synonymous_variant,p.=,ENST00000216951,NM_001322494.1,NM_000178.2;GSS,intron_variant,,ENST00000451957,;	G	ENST00000216951	Transcript	synonymous_variant	405/1922	306/1425	102/474	R	cgT/cgC		1		-1	GSS	HGNC	HGNC:4624	protein_coding	YES	CCDS13245.1	ENSP00000216951	P48637	V9HWJ1	UPI0000111B5F	NM_001322494.1,NM_000178.2			4/13		Gene3D:1.10.1080.10,Pfam_domain:PF03917,PIRSF_domain:PIRSF001558,hmmpanther:PTHR11130,Superfamily_domains:SSF56059,TIGRFAM_domain:TIGR01986																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	71	34942976	34942976	A	G	1	0	0	0	0	0	0	0	1	6713	262	10	5		5	GSS	20	34942976	Silent	SNP	A	C3N-01071_TP	13516	34942976	29501191	341	23328											
MYH7B	0	.	GRCh38	chr20	34999866	34999866	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaaagcagaagtggacCggaagctggcagagaaagac	16	3	15	7	1	1	3	1	0	0	3	1	6	1	5	1	4	2	3	1	4	4	0	rs780992553		C3N-01071_TP	C3N-01071_NB	C	C																c.4867C>A	p.=	p.R1623R	ENST00000262873	36/43	301	285	16	228	228	0	strelka-varscan-mutect	MYH7B,synonymous_variant,p.=,ENST00000262873,NM_020884.4;MYH7B,synonymous_variant,p.=,ENST00000618182,;TRPC4AP,downstream_gene_variant,,ENST00000252015,NM_015638.2;TRPC4AP,downstream_gene_variant,,ENST00000451813,NM_199368.1;MYH7B,upstream_gene_variant,,ENST00000435272,;MYH7B,upstream_gene_variant,,ENST00000456649,;MYH7B,upstream_gene_variant,,ENST00000446156,;MYH7B,upstream_gene_variant,,ENST00000433934,;MYH7B,upstream_gene_variant,,ENST00000453028,;	A	ENST00000262873	Transcript	synonymous_variant	4959/6293	4867/5952	1623/1983	R	Cgg/Agg	rs780992553	1		1	MYH7B	HGNC	HGNC:15906	protein_coding	YES	CCDS42869.1	ENSP00000262873	A7E2Y1		UPI000046D367	NM_020884.4			36/43		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF358																	LOW	1	SNV	1			1										PASS		rs780992553	.												A	2	1	71	34999866	34999866	C	A	1	0	0	0	0	0	0	0	1	10040	643	23	1		1	MYH7B	20	34999866	Silent	SNP	C	C3N-01071_TP	56890	34999866	29444301	342	23329											
RALGAPB	0	.	GRCh38	chr20	38517530	38517530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctagaccccgatcagacaGtgctcccccaacacccgtga	10	7	7	17	2	2	3	1	1	1	2	3	4	3	3	5	0	2	1	5	0	2	2	rs766802567		C3N-01071_TP	C3N-01071_NB	G	G																c.1076G>A	p.Ser359Asn	p.S359N	ENST00000262879	8/30	78	70	8	79	79	0	strelka-varscan-mutect	RALGAPB,missense_variant,p.Ser359Asn,ENST00000262879,NM_001282917.1,NM_020336.3;RALGAPB,missense_variant,p.Ser359Asn,ENST00000397042,NM_001282918.1;RALGAPB,missense_variant,p.Ser359Asn,ENST00000397040,;RALGAPB,missense_variant,p.Ser187Asn,ENST00000438490,;MIR548O2,downstream_gene_variant,,ENST00000616090,;RALGAPB,non_coding_transcript_exon_variant,,ENST00000461423,;	A	ENST00000262879	Transcript	missense_variant	1360/8663	1076/4485	359/1494	S/N	aGt/aAt	rs766802567	1		1	RALGAPB	HGNC	HGNC:29221	protein_coding	YES	CCDS13305.1	ENSP00000262879	Q86X10		UPI000000DBFD	NM_001282917.1,NM_020336.3	tolerated(0.05)		8/30		hmmpanther:PTHR21344																	MODERATE	1	SNV	1			1										PASS		rs766802567	.												A	3	1	71	38517530	38517530	G	A	1	0	0	0	0	1	0	0	0	13174	1029	36	3		3	RALGAPB	20	38517530	Missense_Mutation	SNP	G	C3N-01071_TP	3517664	38517530	25926637	343	23330											
TP53TG5	0	.	GRCh38	chr20	45375519	45375519	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctcctggaactcttcattAttttgttttgttttattgca	7	22	5	7	0	3	0	1	0	2	0	4	1	3	1	1	1	2	3	1	1	3	9	rs75989623		C3N-01071_TP	C3N-01071_NB	A	A																c.288T>A	p.Asn96Lys	p.N96K	ENST00000372726	4/5	131	124	7	148	148	0	varscan-mutect	TP53TG5,missense_variant,p.Asn96Lys,ENST00000372726,NM_014477.2;SYS1,3_prime_UTR_variant,,ENST00000426004,NM_001099791.2;TP53TG5,non_coding_transcript_exon_variant,,ENST00000494455,;SYS1-DBNDD2,intron_variant,,ENST00000475242,;TP53TG5,downstream_gene_variant,,ENST00000488588,;SYS1-DBNDD2,intron_variant,,ENST00000419593,;SYS1-DBNDD2,intron_variant,,ENST00000452133,;SYS1-DBNDD2,intron_variant,,ENST00000458187,;	T	ENST00000372726	Transcript	missense_variant	445/2374	288/873	96/290	N/K	aaT/aaA	rs75989623	1		-1	TP53TG5	HGNC	HGNC:15856	protein_coding	YES	CCDS13352.1	ENSP00000361811	Q9Y2B4		UPI000000165C	NM_014477.2	tolerated(0.14)		4/5		hmmpanther:PTHR15562,hmmpanther:PTHR15562:SF0,Pfam_domain:PF15331																	MODERATE	1	SNV	1			1										PASS		rs75989623	.												T	3	4	71	45375519	45375519	A	T	1	0	0	0	0	1	0	0	0	16870	446	16	4		4	TP53TG5	20	45375519	Missense_Mutation	SNP	A	C3N-01071_TP	6857989	45375519	19068648	344	23331											
FAM65C	0	.	GRCh38	chr20	50596231	50596231	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccctggatgacgctttcAgtgatgacggtgggggcagg	6	10	17	8	2	1	3	1	3	0	0	2	4	2	4	1	5	0	3	1	5	0	2	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.1811T>A	p.Leu604Gln	p.L604Q	ENST00000327979	15/22	291	258	33	247	247	0	strelka-varscan-mutect	FAM65C,missense_variant,p.Leu604Gln,ENST00000327979,NM_001290268.1;FAM65C,missense_variant,p.Leu604Gln,ENST00000045083,NM_080829.3;FAM65C,non_coding_transcript_exon_variant,,ENST00000488529,;FAM65C,upstream_gene_variant,,ENST00000482129,;FAM65C,downstream_gene_variant,,ENST00000462493,;	T	ENST00000327979	Transcript	missense_variant	2223/4377	1811/2841	604/946	L/Q	cTg/cAg		1		-1	FAM65C	HGNC	HGNC:16168	protein_coding	YES	CCDS13431.2	ENSP00000332663	Q96MK2		UPI0000DA5AF4	NM_001290268.1	tolerated(0.14)		15/22		hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF15,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	71	50596231	50596231	A	T	1	0	0	0	0	1	0	0	0	5467	188	7	4		4	FAM65C	20	50596231	Missense_Mutation	SNP	A	C3N-01071_TP	5220712	50596231	13847936	345	23332											
ZFP64	0	.	GRCh38	chr20	52084942	52084942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgaagggacggtccttaCagtggactctgctgtgcacg	8	10	13	10	2	1	1	0	1	1	0	2	3	2	3	1	3	3	2	1	3	2	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.1553G>T	p.Cys518Phe	p.C518F	ENST00000361387	9/9	149	133	16	121	121	0	strelka-varscan-mutect	ZFP64,missense_variant,p.Cys518Phe,ENST00000361387,NM_199427.2;ZFP64,missense_variant,p.Cys299Phe,ENST00000371523,NM_001319146.1;ZFP64,intron_variant,,ENST00000371518,;ZFP64,downstream_gene_variant,,ENST00000395989,;ZFP64,downstream_gene_variant,,ENST00000456175,;ZFP64,downstream_gene_variant,,ENST00000477786,;ZFP64,downstream_gene_variant,,ENST00000467811,;	A	ENST00000361387	Transcript	missense_variant	1614/2545	1553/1938	518/645	C/F	tGt/tTt		1		-1	ZFP64	HGNC	HGNC:15940	protein_coding		CCDS13439.1	ENSP00000355179	Q9NTW7		UPI000013C56C	NM_199427.2	deleterious(0.02)		9/9		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF34,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	52084942	52084942	C	A	1	0	0	0	0	1	0	0	0	18228	478	17	2		2	ZFP64	20	52084942	Missense_Mutation	SNP	C	C3N-01071_TP	1488711	52084942	12359225	346	23333											
NCAM2	0	.	GRCh38	chr21	21432120	21432120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatagacgtgccatccaGtccctatggagtgaagatca	11	9	10	11	1	1	3	1	1	0	2	4	4	4	4	4	1	1	0	4	1	3	2	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.1493G>C	p.Ser498Thr	p.S498T	ENST00000400546	12/18	129	120	9	89	89	0	strelka-varscan-mutect	NCAM2,missense_variant,p.Ser498Thr,ENST00000400546,NM_004540.3;NCAM2,missense_variant,p.Ser480Thr,ENST00000284894,;	C	ENST00000400546	Transcript	missense_variant	1742/8135	1493/2514	498/837	S/T	aGt/aCt		1		1	NCAM2	HGNC	HGNC:7657	protein_coding	YES	CCDS42910.1	ENSP00000383392	O15394		UPI00001A3703	NM_004540.3	tolerated(0.07)		12/18		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF35,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	71	21432120	21432120	G	C	1	0	0	0	0	1	0	0	0	10219	1029	36	4		4	NCAM2	21	21432120	Missense_Mutation	SNP	G	C3N-01071_TP		21432120	25277863	347	23334											
LCA5L	0	.	GRCh38	chr21	39410034	39410034	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttattcacacagtgaggAatttcatgatttatttcagt	12	17	7	5	0	3	2	3	2	0	0	3	3	3	3	0	1	0	1	0	1	3	7	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.1227T>A	p.=	p.I409I	ENST00000358268	9/10	174	138	36	270	270	0	strelka-varscan-mutect	LCA5L,synonymous_variant,p.=,ENST00000358268,;LCA5L,synonymous_variant,p.=,ENST00000288350,NM_152505.3;LCA5L,synonymous_variant,p.=,ENST00000380671,;WRB,downstream_gene_variant,,ENST00000415847,;WRB,upstream_gene_variant,,ENST00000478273,;LCA5L,non_coding_transcript_exon_variant,,ENST00000495240,;LCA5L,downstream_gene_variant,,ENST00000484878,;WRB,intron_variant,,ENST00000623703,;	T	ENST00000358268	Transcript	synonymous_variant	1756/2564	1227/2013	409/670	I	atT/atA		1		-1	LCA5L	HGNC	HGNC:1255	protein_coding	YES	CCDS13665.1	ENSP00000351008	O95447		UPI00000015EE				9/10		hmmpanther:PTHR16650,hmmpanther:PTHR16650:SF9																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	71	39410034	39410034	A	T	1	0	0	0	0	0	0	0	1	8562	242	9	4		4	LCA5L	21	39410034	Silent	SNP	A	C3N-01071_TP	17977914	39410034	7299949	348	23335											
TSPEAR	0	.	GRCh38	chr21	44529925	44529925	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggggtggcgtctgagccCggcagcaggaccagttgcct	5	8	16	12	2	1	1	0	1	1	0	1	2	1	2	3	5	3	3	3	5	0	2	rs781960229		C3N-01071_TP	C3N-01071_NB	C	C																c.663G>C	p.=	p.P221P	ENST00000323084	5/12	106	98	8	85	85	0	strelka-varscan-mutect	TSPEAR,synonymous_variant,p.=,ENST00000614657,NM_001272037.1;TSPEAR,synonymous_variant,p.=,ENST00000323084,NM_144991.2;TSPEAR,synonymous_variant,p.=,ENST00000397916,;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR-AS2,downstream_gene_variant,,ENST00000465978,;	G	ENST00000323084	Transcript	synonymous_variant	729/3967	663/2010	221/669	P	ccG/ccC	rs781960229,COSM3551424	1		-1	TSPEAR	HGNC	HGNC:1268	protein_coding	YES	CCDS13712.1	ENSP00000321987	Q8WU66		UPI0000137746	NM_144991.2			5/12		hmmpanther:PTHR15261,SMART_domains:SM00210,Superfamily_domains:SSF49899											0,1						LOW	1	SNV	1		0,1	1										PASS		rs781960229	.												G	2	3	71	44529925	44529925	C	G	1	0	0	0	0	0	0	0	1	17160	639	23	4		4	TSPEAR	21	44529925	Silent	SNP	C	C3N-01071_TP	5119891	44529925	2180058	349	23336											
RNF185	0	.	GRCh38	chr22	31204522	31204522	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagtatgtggacgagcAgttcctgtcacgcctcttcc	7	10	9	15	2	2	0	1	0	1	0	4	2	4	1	5	1	1	3	5	1	1	3	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.515A>G	p.Gln172Arg	p.Q172R	ENST00000326132	7/7	191	162	29	158	158	0	varscan-mutect	RNF185,missense_variant,p.Gln172Arg,ENST00000326132,NM_152267.3;RNF185,missense_variant,p.Gln116Arg,ENST00000266252,NM_001135825.1;RNF185,3_prime_UTR_variant,,ENST00000426256,;RNF185-AS1,downstream_gene_variant,,ENST00000526089,;RNF185,missense_variant,p.Gln172Arg,ENST00000518626,;RNF185,non_coding_transcript_exon_variant,,ENST00000471384,;RNF185,non_coding_transcript_exon_variant,,ENST00000494514,;	G	ENST00000326132	Transcript	missense_variant	674/3171	515/579	172/192	Q/R	cAg/cGg		1		1	RNF185	HGNC	HGNC:26783	protein_coding	YES	CCDS13890.1	ENSP00000320508	Q96GF1	A0A024R1F5	UPI0000036022	NM_152267.3	tolerated(0.14)		7/7		hmmpanther:PTHR12313,hmmpanther:PTHR12313:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	31204522	31204522	A	G	1	0	0	0	0	1	0	0	0	13645	188	7	5		5	RNF185	22	31204522	Missense_Mutation	SNP	A	C3N-01071_TP		31204522	19613946	350	23337											
PIK3IP1	0	.	GRCh38	chr22	31289588	31289588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagctgccgcctcactcCgagcgggcagggcgttggca	6	5	15	15	4	1	0	1	0	0	0	2	1	2	0	3	3	3	5	3	3	0	1	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.419G>A	p.Arg140Gln	p.R140Q	ENST00000215912	4/6	77	73	4	44	44	0	strelka-mutect	PIK3IP1,missense_variant,p.Arg140Gln,ENST00000215912,NM_052880.4;PIK3IP1,missense_variant,p.Arg140Gln,ENST00000441972,NM_001135911.1;PIK3IP1,missense_variant,p.Arg140Gln,ENST00000402249,;PIK3IP1,downstream_gene_variant,,ENST00000443175,;PIK3IP1-AS1,upstream_gene_variant,,ENST00000440456,;PIK3IP1,non_coding_transcript_exon_variant,,ENST00000480654,;PIK3IP1,non_coding_transcript_exon_variant,,ENST00000493034,;	T	ENST00000215912	Transcript	missense_variant	603/2467	419/792	140/263	R/Q	cGg/cAg		1		-1	PIK3IP1	HGNC	HGNC:24942	protein_coding	YES	CCDS13893.1	ENSP00000215912	Q96FE7	A0A024R1M3	UPI000003F53C	NM_052880.4	tolerated(0.44)		4/6		hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF211																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	31289588	31289588	C	T	1	0	0	0	0	1	0	0	0	12012	652	23	1		1	PIK3IP1	22	31289588	Missense_Mutation	SNP	C	C3N-01071_TP	85066	31289588	19528880	351	23338											
SLC5A4	0	.	GRCh38	chr22	32218548	32218548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaataaagaccaccacaGccaggaggaggatggcgttg	13	5	14	9	2	0	2	0	1	0	1	0	5	0	5	3	4	1	1	3	4	3	2	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.1946C>T	p.Ala649Val	p.A649V	ENST00000266086	15/15	211	182	29	270	269	1	strelka-varscan-mutect	SLC5A4,missense_variant,p.Ala649Val,ENST00000266086,NM_014227.2;RP1-90G24.10,intron_variant,,ENST00000434942,;	A	ENST00000266086	Transcript	missense_variant	1958/2030	1946/1980	649/659	A/V	gCt/gTt		1		-1	SLC5A4	HGNC	HGNC:11039	protein_coding	YES	CCDS13903.1	ENSP00000266086	Q9NY91		UPI00001359F4	NM_014227.2	tolerated(0.07)		15/15		Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1464023137	.												A	3	1	71	32218548	32218548	G	A	1	0	0	0	0	1	0	0	0	14950	971	34	3		3	SLC5A4	22	32218548	Missense_Mutation	SNP	G	C3N-01071_TP	928960	32218548	18599920	352	23339											
MAPK12	0	.	GRCh38	chr22	50256126	50256126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcaagatgacctcgggaGcccggtaccaccgggtcacc	10	6	11	14	3	2	2	2	1	0	1	3	3	2	3	5	3	2	1	5	3	3	2	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.578C>A	p.Ala193Asp	p.A193D	ENST00000215659	7/12	114	97	17	109	109	0	strelka-varscan-mutect	MAPK12,missense_variant,p.Ala193Asp,ENST00000215659,NM_002969.4;MAPK12,missense_variant,p.Ala183Asp,ENST00000622558,NM_001303252.1;MAPK12,missense_variant,p.Ala103Asp,ENST00000395780,;HDAC10,upstream_gene_variant,,ENST00000216271,NM_032019.5;HDAC10,upstream_gene_variant,,ENST00000626012,;HDAC10,upstream_gene_variant,,ENST00000448072,;MAPK12,downstream_gene_variant,,ENST00000395778,;MAPK12,non_coding_transcript_exon_variant,,ENST00000497036,;HDAC10,upstream_gene_variant,,ENST00000498366,;HDAC10,upstream_gene_variant,,ENST00000483222,;HDAC10,upstream_gene_variant,,ENST00000470965,;HDAC10,upstream_gene_variant,,ENST00000489424,;HDAC10,upstream_gene_variant,,ENST00000497483,;MAPK12,downstream_gene_variant,,ENST00000492218,;MAPK12,non_coding_transcript_exon_variant,,ENST00000496942,;MAPK12,non_coding_transcript_exon_variant,,ENST00000482969,;MAPK12,non_coding_transcript_exon_variant,,ENST00000497738,;MAPK12,non_coding_transcript_exon_variant,,ENST00000467891,;MAPK12,non_coding_transcript_exon_variant,,ENST00000488504,;HDAC10,upstream_gene_variant,,ENST00000415993,;	T	ENST00000215659	Transcript	missense_variant	894/1918	578/1104	193/367	A/D	gCt/gAt		1		-1	MAPK12	HGNC	HGNC:6874	protein_coding	YES	CCDS14089.1	ENSP00000215659	P53778		UPI000012F180	NM_002969.4	deleterious(0)		7/12		PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF146,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	50256126	50256126	G	T	1	0	0	0	0	1	0	0	0	9198	971	34	2		2	MAPK12	22	50256126	Missense_Mutation	SNP	G	C3N-01071_TP	18037578	50256126	562342	353	23340											
NLGN4X	0	.	GRCh38	chrX	5893066	5893066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgtgttccagctgcttCatctgcagagacatgatctc	8	13	9	11	1	3	3	1	2	2	1	6	4	4	3	1	0	3	4	1	0	0	2	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.2202G>T	p.Met734Ile	p.M734I	ENST00000381095	6/6	247	177	70	209	209	0	strelka-varscan-mutect	NLGN4X,missense_variant,p.Met734Ile,ENST00000381095,NM_181332.2,NM_001282145.1;NLGN4X,missense_variant,p.Met734Ile,ENST00000381093,NM_001282146.1;NLGN4X,missense_variant,p.Met734Ile,ENST00000275857,NM_020742.3;NLGN4X,missense_variant,p.Met734Ile,ENST00000381092,;NLGN4X,missense_variant,p.Met735Ile,ENST00000538097,;NLGN4X,intron_variant,,ENST00000477079,;	A	ENST00000381095	Transcript	missense_variant	2830/5870	2202/2451	734/816	M/I	atG/atT		1		-1	NLGN4X	HGNC	HGNC:14287	protein_coding	YES	CCDS14126.1	ENSP00000370485	Q8N0W4	A0A024RBV0	UPI0000072EC5	NM_181332.2,NM_001282145.1	tolerated_low_confidence(0.16)		6/6																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	5893066	5893066	C	A	1	0	0	0	0	1	0	0	0	10501	826	29	2		2	NLGN4X	23	5893066	Missense_Mutation	SNP	C	C3N-01071_TP		5893066	150147829	354	23341											
GLRA2	0	.	GRCh38	chrX	14604372	14604372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttccgatggatgtccaGacctgtacaatgcagctgga	11	10	10	10	1	0	1	0	0	0	1	2	4	2	3	3	2	4	3	3	2	3	2	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.552G>T	p.Gln184His	p.Q184H	ENST00000218075	5/9	160	144	16	90	90	0	strelka-varscan-mutect	GLRA2,missense_variant,p.Gln184His,ENST00000218075,NM_001118885.1,NM_002063.3;GLRA2,missense_variant,p.Gln95His,ENST00000443437,NM_001171942.1;GLRA2,missense_variant,p.Gln184His,ENST00000355020,NM_001118886.1;GLRA2,missense_variant,p.Gln168His,ENST00000415367,;	T	ENST00000218075	Transcript	missense_variant	1082/3216	552/1359	184/452	Q/H	caG/caT		1		1	GLRA2	HGNC	HGNC:4327	protein_coding	YES	CCDS14160.1	ENSP00000218075	P23416		UPI000012BA64	NM_001118885.1,NM_002063.3	deleterious(0)		5/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF28,PROSITE_patterns:PS00236,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR00252																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	71	14604372	14604372	G	T	1	0	0	0	0	1	0	0	0	6334	933	33	2		2	GLRA2	23	14604372	Missense_Mutation	SNP	G	C3N-01071_TP	8711306	14604372	141436523	355	23342											
BMX	0	.	GRCh38	chrX	15508393	15508393	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagaagaacttcttctcaaaAgatcacagcaaaagaagaaa	21	7	6	7	0	3	5	2	0	2	5	4	5	3	5	0	0	2	1	0	0	9	3	rs748739673		C3N-01071_TP	C3N-01071_NB	A	A																c.40A>T	p.Arg14Ter	p.R14*	ENST00000357607	2/19	60	43	17	56	56	0	strelka-varscan-mutect	BMX,stop_gained,p.Arg14Ter,ENST00000357607,;BMX,stop_gained,p.Arg14Ter,ENST00000348343,NM_001320866.1,NM_203281.2;BMX,stop_gained,p.Arg14Ter,ENST00000342014,NM_001721.6;BMX,non_coding_transcript_exon_variant,,ENST00000463891,;	T	ENST00000357607	Transcript	stop_gained	228/2598	40/2028	14/675	R/*	Aga/Tga	rs748739673	1		1	BMX	HGNC	HGNC:1079	protein_coding	YES	CCDS14168.1	ENSP00000350224	P51813		UPI0000000DFF				2/19		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF91,SMART_domains:SM00233,Superfamily_domains:SSF50729																	HIGH	1	SNV	2			1										PASS		rs748739673	.												T	4	4	71	15508393	15508393	A	T	1	0	0	0	0	0	1	0	0	1629	64	3	4		4	BMX	23	15508393	Nonsense_Mutation	SNP	A	C3N-01071_TP	904021	15508393	140532502	356	23343											
MAGEB16	0	.	GRCh38	chrX	35802520	35802520	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcagaccccaggaatgtGcccgcagatgctctcgacca	11	6	9	15	2	2	2	1	0	1	2	3	4	2	3	4	1	2	2	4	1	1	0	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.324G>T	p.=	p.V108V	ENST00000399989	2/2	65	54	11	43	43	0	strelka-varscan-mutect	MAGEB16,synonymous_variant,p.=,ENST00000399989,NM_001099921.1;MAGEB16,synonymous_variant,p.=,ENST00000399987,;MAGEB16,synonymous_variant,p.=,ENST00000399992,;MAGEB16,synonymous_variant,p.=,ENST00000399988,;MAGEB16,synonymous_variant,p.=,ENST00000399985,;	T	ENST00000399989	Transcript	synonymous_variant	603/1818	324/975	108/324	V	gtG/gtT		1		1	MAGEB16	HGNC	HGNC:21188	protein_coding	YES	CCDS43927.1	ENSP00000382871	A2A368		UPI00006C1BC1	NM_001099921.1			2/2		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF24																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	71	35802520	35802520	G	T	1	0	0	0	0	0	0	0	1	9089	1306	46	2		2	MAGEB16	23	35802520	Silent	SNP	G	C3N-01071_TP	20294127	35802520	120238375	357	23344											
FAM47C	0	.	GRCh38	chrX	37010846	37010846	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtcgggtgtccagtctCtgcccggagcctaccaagac	7	8	12	14	2	1	1	0	0	1	1	4	2	2	2	4	3	3	0	4	3	2	1	novel		C3N-01071_TP	C3N-01071_NB	C	C																c.2436C>A	p.=	p.L812L	ENST00000358047	1/1	219	159	60	175	175	0	strelka-varscan-mutect	FAM47C,synonymous_variant,p.=,ENST00000358047,NM_001013736.2;	A	ENST00000358047	Transcript	synonymous_variant	2450/3270	2436/3108	812/1035	L	ctC/ctA		1		1	FAM47C	HGNC	HGNC:25301	protein_coding	YES	CCDS35227.1	ENSP00000367913	Q5HY64		UPI000041ABF8	NM_001013736.2			1/1		Pfam_domain:PF14642																	LOW	1	SNV				1										PASS		.	.												A	2	1	71	37010846	37010846	C	A	1	0	0	0	0	0	0	0	1	5449	900	32	2		2	FAM47C	23	37010846	Silent	SNP	C	C3N-01071_TP	1208326	37010846	119030049	358	23345											
RBM10	0	.	GRCh38	chrX	47181385	47181386	+	Frame_Shift_Ins	INS	-	-	T																															gcatcactggaaccaaagggINSgatcccactggagcaggtga																								novel		C3N-01071_TP	C3N-01071_NB	-	-																c.1614_1615insT	p.Asp539Ter	p.D539*	ENST00000329236	13/24	86	74	12	60	60	0	sindel-varindel-pindel	RBM10,frameshift_variant,p.Asp474Ter,ENST00000377604,NM_005676.4,NM_001204467.1;RBM10,frameshift_variant,p.Asp539Ter,ENST00000329236,NM_001204468.1;RBM10,frameshift_variant,p.Asp397Ter,ENST00000345781,NM_001204466.1;RBM10,frameshift_variant,p.Asp396Ter,ENST00000628161,NM_152856.2;RBM10,non_coding_transcript_exon_variant,,ENST00000478410,;RBM10,non_coding_transcript_exon_variant,,ENST00000496012,;	T	ENST00000329236	Transcript	frameshift_variant	1614-1615/3201	1614-1615/2988	538-539/995	-/X	-/T		1		1	RBM10	HGNC	HGNC:9896	protein_coding	YES	CCDS75969.1	ENSP00000328848		A0A0A0MR66	UPI0000211F0E	NM_001204468.1			13/24		Low_complexity_(Seg):seg																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	71	47181385	47181385	-	T	1	0	1	1	0	0	0	0	0	13277	1219	43	0		0	RBM10	23	47181385	Frame_Shift_Ins	INS	-	C3N-01071_TP	10170539	47181385	108859510	359	23346											
ARR3	0	.	GRCh38	chrX	70276435	70276435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttttgtcccctagatGgtgaccaacctgccctgttc	5	14	7	15	0	0	2	0	1	0	1	3	2	2	2	6	1	2	1	6	1	2	4	novel		C3N-01071_TP	C3N-01071_NB	G	G																c.348G>A	p.Met116Ile	p.M116I	ENST00000307959	7/17	130	121	9	121	121	0	strelka-varscan-mutect	ARR3,missense_variant,p.Met116Ile,ENST00000620997,;ARR3,missense_variant,p.Met116Ile,ENST00000374495,;ARR3,missense_variant,p.Met116Ile,ENST00000307959,NM_004312.2;ARR3,missense_variant,p.Met65Ile,ENST00000480877,;	A	ENST00000307959	Transcript	missense_variant,splice_region_variant	399/1292	348/1167	116/388	M/I	atG/atA		1		1	ARR3	HGNC	HGNC:710	protein_coding	YES	CCDS14399.1	ENSP00000311538	P36575		UPI0000457850	NM_004312.2	tolerated(1)		7/17		Gene3D:1g4mA01,Pfam_domain:PF00339,hmmpanther:PTHR11792,hmmpanther:PTHR11792:SF19,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	71	70276435	70276435	G	A	1	0	0	0	0	1	0	0	0	1122	1362	47	3		3	ARR3	23	70276435	Missense_Mutation	SNP	G	C3N-01071_TP	23095050	70276435	85764460	360	23347											
ZMYM3	0	.	GRCh38	chrX	71252964	71252964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagggttccctcaggacCgtggtccacctccgggggag	5	7	15	14	2	1	0	1	0	0	0	4	2	4	2	6	5	1	1	6	5	0	1	rs150071449		C3N-01071_TP	C3N-01071_NB	C	C																c.292G>T	p.Gly98Cys	p.G98C	ENST00000314425	2/25	64	55	9	79	79	0	strelka-varscan-mutect	ZMYM3,missense_variant,p.Gly98Cys,ENST00000373998,NM_001171162.1;ZMYM3,missense_variant,p.Gly98Cys,ENST00000373988,;ZMYM3,missense_variant,p.Gly98Cys,ENST00000314425,NM_201599.2,NM_005096.3;ZMYM3,missense_variant,p.Gly98Cys,ENST00000373984,;ZMYM3,missense_variant,p.Gly98Cys,ENST00000373982,;ZMYM3,missense_variant,p.Gly98Cys,ENST00000373981,NM_001171163.1;ZMYM3,missense_variant,p.Gly98Cys,ENST00000373978,;ZMYM3,non_coding_transcript_exon_variant,,ENST00000489332,;	A	ENST00000314425	Transcript	missense_variant	423/5536	292/4113	98/1370	G/C	Ggt/Tgt	rs150071449	1		-1	ZMYM3	HGNC	HGNC:13054	protein_coding	YES	CCDS14409.1	ENSP00000322845	Q14202		UPI000013C339	NM_201599.2,NM_005096.3	deleterious_low_confidence(0.02)		2/25																			MODERATE	1	SNV	1			1										PASS		rs150071449	.												A	3	1	71	71252964	71252964	C	A	1	0	0	0	0	1	0	0	0	18281	652	23	1		1	ZMYM3	23	71252964	Missense_Mutation	SNP	C	C3N-01071_TP	976529	71252964	84787931	361	23348											
ATP7A	0	.	GRCh38	chrX	78011652	78011652	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttatgaatttgctgtcctTtttattgtgtgtacctgtac	6	21	8	6	0	0	1	0	1	0	0	1	1	1	1	2	0	3	4	2	0	5	8	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.2150T>G	p.Phe717Cys	p.F717C	ENST00000341514	9/23	190	149	41	195	195	0	strelka-varscan-mutect	ATP7A,missense_variant,p.Phe717Cys,ENST00000341514,NM_000052.6;ATP7A,missense_variant,p.Phe717Cys,ENST00000343533,NM_001282224.1;	G	ENST00000341514	Transcript	missense_variant	2305/8483	2150/4503	717/1500	F/C	tTt/tGt		1		1	ATP7A	HGNC	HGNC:869	protein_coding	YES	CCDS35339.1	ENSP00000345728	Q04656		UPI000044D414	NM_000052.6	deleterious(0)		9/23		Prints_domain:PR00942,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF326,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	71	78011652	78011652	T	G	1	0	0	0	0	1	0	0	0	1343	1841	64	5		5	ATP7A	23	78011652	Missense_Mutation	SNP	T	C3N-01071_TP	6758688	78011652	78029243	362	23349											
DRP2	0	.	GRCh38	chrX	101247153	101247153	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaactccgcagagtccagaAagccctgcgctgtacgtctc	10	7	10	14	3	1	2	0	0	1	2	4	3	3	2	3	0	4	3	3	0	3	1	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.1241A>C	p.Lys414Thr	p.K414T	ENST00000395209	12/24	110	101	9	100	100	0	strelka-varscan-mutect	DRP2,missense_variant,p.Lys414Thr,ENST00000395209,NM_001939.2;DRP2,missense_variant,p.Lys414Thr,ENST00000402866,;DRP2,missense_variant,p.Lys414Thr,ENST00000538510,;DRP2,missense_variant,p.Lys336Thr,ENST00000541709,NM_001171184.1;DRP2,3_prime_UTR_variant,,ENST00000372916,;	C	ENST00000395209	Transcript	missense_variant	1768/7277	1241/2874	414/957	K/T	aAa/aCa		1		1	DRP2	HGNC	HGNC:3032	protein_coding	YES	CCDS14480.2	ENSP00000378635	Q13474	A0A024RCH3	UPI000013D388	NM_001939.2	deleterious(0)		12/24		hmmpanther:PTHR11915,Pfam_domain:PF09068,PIRSF_domain:PIRSF038205,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	71	101247153	101247153	A	C	1	0	0	0	0	1	0	0	0	4585	14	1	5		5	DRP2	23	101247153	Missense_Mutation	SNP	A	C3N-01071_TP	23235501	101247153	54793742	363	23350											
ARMCX4	0	.	GRCh38	chrX	101488603	101488603	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattacatgggccgcattcAggaagtgggctgggtgactg	8	10	16	7	1	1	2	1	2	0	0	1	3	1	3	1	4	1	2	1	4	2	2	novel		C3N-01071_TP	C3N-01071_NB	A	A																c.14A>C	p.Gln5Pro	p.Q5P	ENST00000423738	2/2	112	103	9	76	76	0	strelka-varscan-mutect	ARMCX4,missense_variant,p.Gln5Pro,ENST00000423738,NM_001256155.2;ARMCX4,missense_variant,p.Gln109Pro,ENST00000433011,;ARMCX4,missense_variant,p.Gln109Pro,ENST00000452188,;ARMCX4,missense_variant,p.Gln97Pro,ENST00000354842,;ARMCX4,missense_variant,p.Gln97Pro,ENST00000455331,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;	C	ENST00000423738	Transcript	missense_variant	216/7424	14/6873	5/2290	Q/P	cAg/cCg		1		1	ARMCX4	HGNC	HGNC:28615	protein_coding	YES	CCDS59170.1	ENSP00000404304		F8W8Y7	UPI000442CF06	NM_001256155.2	deleterious(0.03)		2/2		hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF21																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	71	101488603	101488603	A	C	1	0	0	0	0	1	0	0	0	1102	188	7	5		5	ARMCX4	23	101488603	Missense_Mutation	SNP	A	C3N-01071_TP	241450	101488603	54552292	364	23351											
RBMXL3	0	.	GRCh38	chrX	115190033	115190033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaggcttgcagccacggCgctgggccggcccaccccac	6	4	12	19	3	1	0	1	0	0	0	1	0	1	0	5	4	2	3	5	4	0	1	rs374672415		C3N-01071_TP	C3N-01071_NB	C	C																c.592C>A	p.Arg198Ser	p.R198S	ENST00000424776	1/1	51	31	20	39	39	0	strelka-varscan-mutect	RBMXL3,missense_variant,p.Arg198Ser,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1;	A	ENST00000424776	Transcript	missense_variant	607/3442	592/3204	198/1067	R/S	Cgc/Agc	rs374672415,COSM5480175	1		1	RBMXL3	HGNC	HGNC:26859	protein_coding	YES	CCDS55478.1	ENSP00000417451	Q8N7X1		UPI0001932819	NM_001145346.1	tolerated_low_confidence(0.09)		1/1													0,1						MODERATE		SNV			0,1	1										PASS		rs374672415	.												A	3	1	71	115190033	115190033	C	A	1	0	0	0	0	1	0	0	0	13321	768	27	1		1	RBMXL3	23	115190033	Missense_Mutation	SNP	C	C3N-01071_TP	13701430	115190033	40850862	365	23352											
CT47B1	0	.	GRCh38	chrX	120875064	120875064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctggcactgcaggctctgGgaccgacgcggcctcctgga	6	6	15	14	3	1	0	0	0	1	0	2	3	2	2	3	5	2	4	3	5	0	0	rs756067552		C3N-01071_TP	C3N-01071_NB	G	G																c.607C>A	p.Pro203Thr	p.P203T	ENST00000371311	1/3	546	404	142	443	443	0	strelka-varscan-mutect	CT47B1,missense_variant,p.Pro203Thr,ENST00000371311,NM_001145718.1;RP1-321E8.5,downstream_gene_variant,,ENST00000613352,;RP1-321E8.4,upstream_gene_variant,,ENST00000604718,;	T	ENST00000371311	Transcript	missense_variant	866/1328	607/900	203/299	P/T	Cca/Aca	rs756067552	1		-1	CT47B1	HGNC	HGNC:33293	protein_coding	YES	CCDS48161.1	ENSP00000360360	P0C2W7		UPI000036776D	NM_001145718.1	deleterious(0.05)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR32157:SF4,hmmpanther:PTHR32157,Pfam_domain:PF15623																	MODERATE		SNV	5			1										PASS		rs756067552	.												T	3	4	71	120875064	120875064	G	T	1	0	0	0	0	1	0	0	0	3791	1232	43	2		2	CT47B1	23	120875064	Missense_Mutation	SNP	G	C3N-01071_TP	5685031	120875064	35165831	366	23353											
IKBKG	0	.	GRCh38	chrX	154560484	154560484	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcacagcgtgcaggTggaccagctgcgcatgcagg	9	4	16	12	2	0	0	0	0	0	0	0	1	0	1	1	3	7	7	1	3	0	0	novel		C3N-01071_TP	C3N-01071_NB	T	T																c.800T>C	p.Val267Ala	p.V267A	ENST00000618670	5/10	38	33	5	34	34	0	varscan-mutect	IKBKG,missense_variant,p.Val199Ala,ENST00000594239,NM_001321397.1,NM_001099857.2;IKBKG,missense_variant,p.Val199Ala,ENST00000611071,NM_003639.4;IKBKG,missense_variant,p.Val267Ala,ENST00000618670,NM_001099856.3;IKBKG,missense_variant,p.Val198Ala,ENST00000617207,;IKBKG,missense_variant,p.Val199Ala,ENST00000619941,;IKBKG,missense_variant,p.Val198Ala,ENST00000615874,;IKBKG,missense_variant,p.Val199Ala,ENST00000440286,;IKBKG,missense_variant,p.Val187Ala,ENST00000413620,;IKBKG,missense_variant,p.Val65Ala,ENST00000615186,;IKBKG,intron_variant,,ENST00000611176,NM_001145255.2;IKBKG,downstream_gene_variant,,ENST00000422680,;IKBKG,downstream_gene_variant,,ENST00000445622,;IKBKG,downstream_gene_variant,,ENST00000492469,;IKBKG,intron_variant,,ENST00000617838,;IKBKG,3_prime_UTR_variant,,ENST00000612051,NM_001321396.1;	C	ENST00000618670	Transcript	missense_variant	820/2069	800/1464	267/487	V/A	gTg/gCg		1		1	IKBKG	HGNC	HGNC:5961	protein_coding	YES	CCDS48196.1	ENSP00000483825	Q9Y6K9		UPI00001A36E3	NM_001099856.3	tolerated(0.08)		5/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31553,hmmpanther:PTHR31553:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	71	154560484	154560484	T	C	1	0	0	0	0	1	0	0	0	7521	1696	59	5		5	IKBKG	23	154560484	Missense_Mutation	SNP	T	C3N-01071_TP	33685420	154560484	1480411	367	23354											
PRDM16	0	.	GRCh38	chr1	3411686	3411686	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaggccgcacccggggAgcctgcccttctccacggcg	4	5	12	20	4	1	0	0	0	1	0	3	1	2	1	7	4	2	1	7	4	0	1	novel		C3N-01072_TP	C3N-01072_NB	A	A																c.1489A>T	p.Ser497Cys	p.S497C	ENST00000270722	9/17	97	74	23	109	109	0	strelka-varscan-mutect	PRDM16,missense_variant,p.Ser497Cys,ENST00000270722,NM_022114.3;PRDM16,missense_variant,p.Ser497Cys,ENST00000378391,NM_199454.2;PRDM16,missense_variant,p.Ser498Cys,ENST00000511072,;PRDM16,missense_variant,p.Ser498Cys,ENST00000514189,;PRDM16,missense_variant,p.Ser306Cys,ENST00000509860,;PRDM16,non_coding_transcript_exon_variant,,ENST00000512462,;	T	ENST00000270722	Transcript	missense_variant	1538/8690	1489/3831	497/1276	S/C	Agc/Tgc		1		1	PRDM16	HGNC	HGNC:14000	protein_coding	YES	CCDS41236.2	ENSP00000270722	Q9HAZ2		UPI0000458A29	NM_022114.3	deleterious(0.02)		9/17		hmmpanther:PTHR24393,hmmpanther:PTHR24393:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	72	3411686	3411686	A	T	1	0	0	0	0	1	0	0	0	12588	304	11	4		4	PRDM16	1	3411686	Missense_Mutation	SNP	A	C3N-01072_TP		3411686	245544736	1	23355											
SRSF4	0	.	GRCh38	chr1	29148481	29148481	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctggatctagacttggAccgagatcgggtttttgaag	10	11	13	7	2	1	4	0	1	1	3	2	7	1	6	2	3	0	1	2	3	2	4	rs762382718		C3N-01072_TP	C3N-01072_NB	A	A																c.1414T>A	p.Ser472Thr	p.S472T	ENST00000373795	6/6	90	71	19	122	122	0	strelka-varscan-mutect	SRSF4,missense_variant,p.Ser472Thr,ENST00000373795,NM_005626.4;SRSF4,downstream_gene_variant,,ENST00000466448,;RP11-242O24.3,upstream_gene_variant,,ENST00000413004,;SRSF4,non_coding_transcript_exon_variant,,ENST00000634348,;	T	ENST00000373795	Transcript	missense_variant	1649/2387	1414/1485	472/494	S/T	Tcc/Acc	rs762382718	1		-1	SRSF4	HGNC	HGNC:10786	protein_coding	YES	CCDS333.1	ENSP00000362900	Q08170		UPI00001358BF	NM_005626.4	deleterious_low_confidence(0)		6/6		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs762382718	.												T	3	4	72	29148481	29148481	A	T	1	0	0	0	0	1	0	0	0	15541	275	10	4		4	SRSF4	1	29148481	Missense_Mutation	SNP	A	C3N-01072_TP	25736795	29148481	219807941	2	23356											
PGM1	0	.	GRCh38	chr1	63648606	63648606	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcagagtgtggaggacAttctcaaagatcattggcaa	14	8	12	7	0	2	2	2	0	1	2	3	4	2	4	0	3	1	3	0	3	3	2	rs567337429		C3N-01072_TP	C3N-01072_NB	A	A																c.1288A>T	p.Ile430Phe	p.I430F	ENST00000371083	8/11	496	385	111	494	494	0	strelka-varscan-mutect	PGM1,missense_variant,p.Ile430Phe,ENST00000371083,NM_001172818.1;PGM1,missense_variant,p.Ile412Phe,ENST00000371084,NM_002633.2;PGM1,missense_variant,p.Ile215Phe,ENST00000540265,NM_001172819.1;PGM1,upstream_gene_variant,,ENST00000483707,;	T	ENST00000371083	Transcript	missense_variant	1656/2657	1288/1743	430/580	I/F	Att/Ttt	rs567337429	1		1	PGM1	HGNC	HGNC:8905	protein_coding	YES	CCDS53323.1	ENSP00000360124	P36871		UPI000016A812	NM_001172818.1	deleterious(0)		8/11		hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF37,Pfam_domain:PF02880,Gene3D:3.40.120.10,Superfamily_domains:SSF53738																	MODERATE	1	SNV	2			1										PASS		rs567337429	.												T	3	4	72	63648606	63648606	A	T	1	0	0	0	0	1	0	0	0	11886	217	8	4		4	PGM1	1	63648606	Missense_Mutation	SNP	A	C3N-01072_TP	34500125	63648606	185307816	3	23357											
TTLL7	0	.	GRCh38	chr1	83933680	83933680	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttcaaagcagacactttcGcttcctggaggttgaccagg	10	10	10	11	1	1	2	1	1	0	1	3	3	2	3	2	3	1	3	2	3	1	4			C3N-01072_TP	C3N-01072_NB	G	G																c.975C>T	p.=	p.S325S	ENST00000260505	9/21	192	149	43	150	150	0	strelka-varscan-mutect	TTLL7,synonymous_variant,p.=,ENST00000260505,NM_024686.4;TTLL7,synonymous_variant,p.=,ENST00000610996,;TTLL7,non_coding_transcript_exon_variant,,ENST00000477524,;TTLL7,non_coding_transcript_exon_variant,,ENST00000472688,;TTLL7,non_coding_transcript_exon_variant,,ENST00000488014,;TTLL7,intron_variant,,ENST00000482783,;TTLL7,synonymous_variant,p.=,ENST00000480174,;TTLL7,synonymous_variant,p.=,ENST00000474957,;TTLL7,synonymous_variant,p.=,ENST00000485638,;	A	ENST00000260505	Transcript	synonymous_variant	1353/7976	975/2664	325/887	S	agC/agT	COSM5418420	1		-1	TTLL7	HGNC	HGNC:26242	protein_coding	YES	CCDS690.2	ENSP00000260505	Q6ZT98		UPI000020391D	NM_024686.4			9/21		Pfam_domain:PF03133,PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF102,Superfamily_domains:SSF56059											1						LOW	1	SNV	2		1	1										PASS		rs963199827	.												A	2	1	72	83933680	83933680	G	A	1	0	0	0	0	0	0	0	1	17243	1078	38	1		1	TTLL7	1	83933680	Silent	SNP	G	C3N-01072_TP	20285074	83933680	165022742	4	23358											
PRPF38B	0	.	GRCh38	chr1	108696309	108696309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctacagatctgtgggactGgtttgaatccttccttgatg	7	14	10	10	0	1	3	0	2	1	1	3	4	3	4	3	2	1	1	3	2	2	4	novel		C3N-01072_TP	C3N-01072_NB	G	G																c.530G>T	p.Trp177Leu	p.W177L	ENST00000370025	4/6	187	148	39	205	204	1	strelka-varscan-mutect	PRPF38B,missense_variant,p.Trp66Leu,ENST00000370021,;PRPF38B,missense_variant,p.Trp177Leu,ENST00000370025,NM_018061.2;PRPF38B,missense_variant,p.Trp177Leu,ENST00000370022,;PRPF38B,non_coding_transcript_exon_variant,,ENST00000467302,;PRPF38B,upstream_gene_variant,,ENST00000485810,;	T	ENST00000370025	Transcript	missense_variant	799/3693	530/1641	177/546	W/L	tGg/tTg		1		1	PRPF38B	HGNC	HGNC:25512	protein_coding	YES	CCDS788.1	ENSP00000359042	Q5VTL8		UPI000013CF13	NM_018061.2	deleterious(0)		4/6		Low_complexity_(Seg):seg,hmmpanther:PTHR23142,Pfam_domain:PF03371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	72	108696309	108696309	G	T	1	0	0	0	0	1	0	0	0	12704	1357	47	2		2	PRPF38B	1	108696309	Missense_Mutation	SNP	G	C3N-01072_TP	24762629	108696309	140260113	5	23359											
RUSC1	0	.	GRCh38	chr1	155326926	155326926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagcagttgacccaggcCtcccgggtctatgcctctgg	5	9	14	13	1	2	1	0	1	2	0	3	2	3	2	4	4	2	2	4	4	1	2	novel		C3N-01072_TP	C3N-01072_NB	C	C																c.2208C>T	p.=	p.A736A	ENST00000368352	8/10	291	224	67	304	304	0	strelka-varscan-mutect	RUSC1,synonymous_variant,p.=,ENST00000368352,NM_001105203.1;RUSC1,synonymous_variant,p.=,ENST00000368354,NM_001105204.1;RUSC1,synonymous_variant,p.=,ENST00000368347,NM_001105205.1;RUSC1,synonymous_variant,p.=,ENST00000292254,NM_001278230.1;RUSC1,synonymous_variant,p.=,ENST00000368349,NM_001278229.1,NM_014328.4,NM_001278227.1,NM_001278228.1;RUSC1,synonymous_variant,p.=,ENST00000490373,;RUSC1,synonymous_variant,p.=,ENST00000497930,;RUSC1,synonymous_variant,p.=,ENST00000479924,;RUSC1,synonymous_variant,p.=,ENST00000485924,;RUSC1,5_prime_UTR_variant,,ENST00000471876,;RUSC1,downstream_gene_variant,,ENST00000489860,;RUSC1-AS1,upstream_gene_variant,,ENST00000450199,;RUSC1-AS1,upstream_gene_variant,,ENST00000443642,;RUSC1,non_coding_transcript_exon_variant,,ENST00000462780,;RUSC1,downstream_gene_variant,,ENST00000492536,;RUSC1,downstream_gene_variant,,ENST00000467820,;RUSC1,downstream_gene_variant,,ENST00000473331,;RUSC1,downstream_gene_variant,,ENST00000468764,;	T	ENST00000368352	Transcript	synonymous_variant	2359/3403	2208/2709	736/902	A	gcC/gcT		1		1	RUSC1	HGNC	HGNC:17153	protein_coding	YES	CCDS41410.1	ENSP00000357336	Q9BVN2		UPI000046FDA5	NM_001105203.1			8/10		hmmpanther:PTHR15591																	LOW		SNV	2			1										PASS		.	.												T	2	4	72	155326926	155326926	C	T	1	0	0	0	0	0	0	0	1	14011	668	24	3		3	RUSC1	1	155326926	Silent	SNP	C	C3N-01072_TP	46630617	155326926	93629496	6	23360											
KCNJ10	0	.	GRCh38	chr1	160041541	160041541	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccactttcacaacttggTcaaaaaggctaaagtcagct	14	9	8	10	0	3	0	3	0	0	0	3	0	3	0	1	3	2	2	1	3	5	3	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.992A>G	p.Asp331Gly	p.D331G	ENST00000368089	2/2	483	388	95	489	489	0	strelka-varscan-mutect	KCNJ10,missense_variant,p.Asp331Gly,ENST00000368089,NM_002241.4;KCNJ10,intron_variant,,ENST00000637644,;KCNJ10,intron_variant,,ENST00000636689,;KCNJ10,intron_variant,,ENST00000509700,;	C	ENST00000368089	Transcript	missense_variant	1219/5293	992/1140	331/379	D/G	gAc/gGc		1		-1	KCNJ10	HGNC	HGNC:6256	protein_coding	YES	CCDS1193.1	ENSP00000357068	P78508		UPI000012D8A6	NM_002241.4	tolerated(0.14)		2/2		hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF21,PIRSF_domain:PIRSF005465,Gene3D:2.60.40.1400,Pfam_domain:PF01007,Superfamily_domains:SSF81296,Prints_domain:PR01320,Prints_domain:PR01322																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	72	160041541	160041541	T	C	1	0	0	0	0	1	0	0	0	7960	1667	58	5		5	KCNJ10	1	160041541	Missense_Mutation	SNP	T	C3N-01072_TP	4714615	160041541	88914881	7	23361											
VANGL2	0	.	GRCh38	chr1	160419327	160419327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcttccgccggcccaaggCctcgctgccccgcgtctttg	2	10	11	18	5	2	0	0	0	2	0	4	0	3	0	6	2	1	2	6	2	1	3	novel		C3N-01072_TP	C3N-01072_NB	C	C																c.518C>A	p.Ala173Asp	p.A173D	ENST00000368061	4/8	574	476	98	544	542	2	strelka-varscan-mutect	VANGL2,missense_variant,p.Ala173Asp,ENST00000368061,NM_020335.2;VANGL2,upstream_gene_variant,,ENST00000483408,;	A	ENST00000368061	Transcript	missense_variant	992/5340	518/1566	173/521	A/D	gCc/gAc		1		1	VANGL2	HGNC	HGNC:15511	protein_coding	YES	CCDS30915.1	ENSP00000357040	Q9ULK5		UPI00001C1D79	NM_020335.2	deleterious(0)		4/8		hmmpanther:PTHR20886,PIRSF_domain:PIRSF007991,Pfam_domain:PF06638																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	72	160419327	160419327	C	A	1	0	0	0	0	1	0	0	0	17665	739	26	2		2	VANGL2	1	160419327	Missense_Mutation	SNP	C	C3N-01072_TP	377786	160419327	88537095	8	23362											
CACNA1E	0	.	GRCh38	chr1	181733016	181733016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaacgatccaagaagagaGagcccaggatttaaggaggt	15	5	13	8	1	0	3	0	0	0	3	1	7	1	5	3	3	2	0	3	3	4	2	novel		C3N-01072_TP	C3N-01072_NB	G	G																c.2930G>A	p.Arg977Lys	p.R977K	ENST00000367573	20/48	70	53	17	70	70	0	strelka-varscan-mutect	CACNA1E,missense_variant,p.Arg958Lys,ENST00000621791,NM_001205294.1;CACNA1E,missense_variant,p.Arg977Lys,ENST00000621551,;CACNA1E,missense_variant,p.Arg977Lys,ENST00000367567,;CACNA1E,missense_variant,p.Arg958Lys,ENST00000358338,;CACNA1E,missense_variant,p.Arg977Lys,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Arg977Lys,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Arg976Lys,ENST00000357570,;CACNA1E,missense_variant,p.Arg958Lys,ENST00000360108,;	A	ENST00000367573	Transcript	missense_variant	2930/7067	2930/6942	977/2313	R/K	aGa/aAa		1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1	tolerated(0.4)		20/48																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	72	181733016	181733016	G	A	1	0	0	0	0	1	0	0	0	2230	942	33	3		3	CACNA1E	1	181733016	Missense_Mutation	SNP	G	C3N-01072_TP	21313689	181733016	67223406	9	23363											
APOB	0	.	GRCh38	chr2	21011202	21011202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacattgctgaaatgcagtGagtctgaattatagtttgtg	12	14	11	4	0	1	4	0	3	1	1	1	4	1	4	0	0	2	3	0	0	4	4	novel		C3N-01072_TP	C3N-01072_NB	G	G																c.5666C>T	p.Ser1889Leu	p.S1889L	ENST00000233242	26/29	277	232	45	285	285	0	strelka-varscan-mutect	APOB,missense_variant,p.Ser1889Leu,ENST00000233242,NM_000384.2;	A	ENST00000233242	Transcript	missense_variant	5794/14121	5666/13692	1889/4563	S/L	tCa/tTa		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	deleterious(0.03)		26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	72	21011202	21011202	G	A	1	0	0	0	0	1	0	0	0	907	1294	45	3		3	APOB	2	21011202	Missense_Mutation	SNP	G	C3N-01072_TP		21011202	221182327	10	23364											
BIRC6	0	.	GRCh38	chr2	32476299	32476300	+	Frame_Shift_Ins	INS	-	-	A																															gtaacaaaggatcatcatatINSaaactcctggtagaacaagc																								novel		C3N-01072_TP	C3N-01072_NB	-	-																c.6810dupA	p.Leu2271ThrfsTer17	p.L2271Tfs*17	ENST00000421745	34/74	247	211	36	206	205	1	sindel-varindel-pindel	BIRC6,frameshift_variant,p.Leu2271ThrfsTer17,ENST00000421745,NM_016252.3;BIRC6,downstream_gene_variant,,ENST00000462504,;	A	ENST00000421745	Transcript	frameshift_variant	6941-6942/15703	6807-6808/14574	2269-2270/4857	-/X	-/A		1		1	BIRC6	HGNC	HGNC:13516	protein_coding	YES	CCDS33175.2	ENSP00000393596	Q9NR09		UPI000159689D	NM_016252.3			34/74		hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF123																	HIGH	1	insertion	1	3		1										PASS		.	.												A	7	5	72	32476299	32476299	-	A	1	0	1	1	0	0	0	0	0	1589	1413	49	0		0	BIRC6	2	32476299	Frame_Shift_Ins	INS	-	C3N-01072_TP	11465097	32476299	209717230	11	23365											
TSPYL6	0	.	GRCh38	chr2	54255612	54255612	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctccctgtttacctcatcTattgctctgttttcttccgc	3	18	5	15	1	4	0	1	0	3	0	6	0	6	0	4	0	2	3	4	0	2	7	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.540A>T	p.=	p.I180I	ENST00000317802	1/1	276	224	52	326	326	0	strelka-varscan-mutect	TSPYL6,synonymous_variant,p.=,ENST00000317802,NM_001003937.2;ACYP2,intron_variant,,ENST00000394666,NM_138448.3;ACYP2,intron_variant,,ENST00000607452,;ACYP2,intron_variant,,ENST00000303536,;ACYP2,intron_variant,,ENST00000606865,;ACYP2,intron_variant,,ENST00000494922,;	A	ENST00000317802	Transcript	synonymous_variant	661/3089	540/1233	180/410	I	atA/atT		1		-1	TSPYL6	HGNC	HGNC:14521	protein_coding	YES	CCDS42682.1	ENSP00000417919	Q8N831	A0A140VJY4	UPI000006CF77	NM_001003937.2			1/1		hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF29,Superfamily_domains:SSF143113																	LOW		SNV				1										PASS		rs1458759042	.												A	2	1	72	54255612	54255612	T	A	1	0	0	0	0	0	0	0	1	17170	1512	53	4		4	TSPYL6	2	54255612	Silent	SNP	T	C3N-01072_TP	21779313	54255612	187937917	12	23366											
HTRA2	0	.	GRCh38	chr2	74530813	74530814	+	Frame_Shift_Ins	INS	-	-	A																															catcgcaacgctgaggattcINSagactaaggtgggggctggg																								novel		C3N-01072_TP	C3N-01072_NB	-	-																c.704dupA	p.Thr236AspfsTer2	p.T236Dfs*2	ENST00000258080	2/8	524	429	95	565	564	1	sindel-varindel-pindel	HTRA2,frameshift_variant,p.Thr236AspfsTer2,ENST00000258080,NM_013247.4;HTRA2,frameshift_variant,p.Thr223AspfsTer2,ENST00000437202,;HTRA2,frameshift_variant,p.Thr236AspfsTer2,ENST00000352222,NM_145074.2;LOXL3,downstream_gene_variant,,ENST00000264094,NM_032603.3;LOXL3,downstream_gene_variant,,ENST00000409549,;DQX1,upstream_gene_variant,,ENST00000404568,NM_133637.2;DQX1,upstream_gene_variant,,ENST00000393951,;LOXL3,downstream_gene_variant,,ENST00000409249,;LOXL3,downstream_gene_variant,,ENST00000393937,NM_001289164.1;LOXL3,downstream_gene_variant,,ENST00000409986,;AUP1,upstream_gene_variant,,ENST00000377526,NM_181575.4;DQX1,upstream_gene_variant,,ENST00000451518,;LOXL3,downstream_gene_variant,,ENST00000420535,;HTRA2,non_coding_transcript_exon_variant,,ENST00000467961,;HTRA2,non_coding_transcript_exon_variant,,ENST00000462909,;HTRA2,non_coding_transcript_exon_variant,,ENST00000484881,;LOXL3,downstream_gene_variant,,ENST00000481835,;DQX1,upstream_gene_variant,,ENST00000498552,;HTRA2,non_coding_transcript_exon_variant,,ENST00000484352,;HTRA2,non_coding_transcript_exon_variant,,ENST00000482331,;HTRA2,non_coding_transcript_exon_variant,,ENST00000465521,;HTRA2,non_coding_transcript_exon_variant,,ENST00000482205,;LOXL3,downstream_gene_variant,,ENST00000470907,;DQX1,upstream_gene_variant,,ENST00000473508,;AUP1,upstream_gene_variant,,ENST00000466894,;AUP1,upstream_gene_variant,,ENST00000463900,;AUP1,upstream_gene_variant,,ENST00000425118,;AUP1,upstream_gene_variant,,ENST00000486234,;AUP1,upstream_gene_variant,,ENST00000464887,;AUP1,upstream_gene_variant,,ENST00000472800,;AUP1,upstream_gene_variant,,ENST00000462297,;	A	ENST00000258080	Transcript	frameshift_variant	1333-1334/2370	703-704/1377	235/458	Q/QX	cag/cAag		1		1	HTRA2	HGNC	HGNC:14348	protein_coding	YES	CCDS1951.1	ENSP00000258080	O43464		UPI000012CB84	NM_013247.4			2/8		hmmpanther:PTHR22939,hmmpanther:PTHR22939:SF69,Pfam_domain:PF13365,Gene3D:2.40.10.10,Superfamily_domains:SSF50494																	HIGH	1	insertion	1	1		1										PASS		.	.												A	7	5	72	74530813	74530813	-	A	1	0	1	1	0	0	0	0	0	7350	827	29	0		0	HTRA2	2	74530813	Frame_Shift_Ins	INS	-	C3N-01072_TP	20275201	74530813	167662716	13	23367											
ST3GAL5	0	.	GRCh38	chr2	85863477	85863477	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcacataggtgtactcacTtggcattgctgtgaagagag	10	13	11	7	0	2	2	2	1	0	1	2	3	2	2	0	2	2	3	0	2	3	5	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.91A>C	p.Ser31Arg	p.S31R	ENST00000377332	2/7	370	300	70	316	315	1	strelka-varscan-mutect	ST3GAL5,missense_variant,p.Ser31Arg,ENST00000377332,NM_003896.3;ST3GAL5,missense_variant,p.Ser3Arg,ENST00000393805,;ST3GAL5,missense_variant,p.Ser8Arg,ENST00000393808,NM_001042437.1;ST3GAL5,missense_variant,p.Ser3Arg,ENST00000455892,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000484728,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000461892,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000461199,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000473122,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000490946,;ST3GAL5,missense_variant,p.Ser31Arg,ENST00000306262,;ST3GAL5,3_prime_UTR_variant,,ENST00000433665,;	G	ENST00000377332	Transcript	missense_variant	200/2366	91/1257	31/418	S/R	Agt/Cgt		1		-1	ST3GAL5	HGNC	HGNC:10872	protein_coding	YES	CCDS1986.2	ENSP00000366549	Q9UNP4		UPI000015F319	NM_003896.3	tolerated_low_confidence(0.07)		2/7		hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF60																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	72	85863477	85863477	T	G	1	0	0	0	0	1	0	0	0	15596	1609	56	5		5	ST3GAL5	2	85863477	Missense_Mutation	SNP	T	C3N-01072_TP	11332664	85863477	156330052	14	23368											
DARS	0	.	GRCh38	chr2	135979362	135979362	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctaacccgaaccaaaacTcgatctgtaataacagtaaa	17	9	4	11	2	2	0	0	0	2	0	4	2	2	0	2	0	4	2	2	0	8	4	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.129A>C	p.=	p.R43R	ENST00000264161	3/16	194	150	44	207	206	1	strelka-varscan-mutect	DARS,synonymous_variant,p.=,ENST00000264161,NM_001293312.1,NM_001349.3;DARS,synonymous_variant,p.=,ENST00000456565,;DARS,synonymous_variant,p.=,ENST00000441323,;DARS,synonymous_variant,p.=,ENST00000449218,;DARS,non_coding_transcript_exon_variant,,ENST00000463008,;DARS,synonymous_variant,p.=,ENST00000435076,;DARS,non_coding_transcript_exon_variant,,ENST00000474184,;	G	ENST00000264161	Transcript	synonymous_variant	345/2361	129/1506	43/501	R	cgA/cgC		1		-1	DARS	HGNC	HGNC:2678	protein_coding	YES	CCDS2180.1	ENSP00000264161	P14868	A0A140VJW5	UPI000013639B	NM_001293312.1,NM_001349.3			3/16		Gene3D:2.40.50.140,hmmpanther:PTHR22594,hmmpanther:PTHR22594:SF33,Superfamily_domains:SSF50249																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	72	135979362	135979362	T	G	1	0	0	0	0	0	0	0	1	4041	1565	54	5		5	DARS	2	135979362	Silent	SNP	T	C3N-01072_TP	50115885	135979362	106214167	15	23369											
CTNNB1	0	.	GRCh38	chr3	41224646	41224646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccactaccacagctccttCtctgagtggtaaaggcaatc	10	10	8	13	0	1	1	0	1	1	0	4	1	2	1	3	2	3	3	3	2	4	3	rs121913409		C3N-01072_TP	C3N-01072_NB	C	C																c.134C>T	p.Ser45Phe	p.S45F	ENST00000349496	3/15	494	383	111	526	526	0	strelka-varscan-mutect	CTNNB1,missense_variant,p.Ser45Phe,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser38Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000441708,;CTNNB1,missense_variant,p.Ser38Phe,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	T	ENST00000349496	Transcript	missense_variant	414/3737	134/2346	45/781	S/F	tCt/tTt	rs121913409,COSM5667,COSM5689,COSM5692,COSM6100	1		1	CTNNB1	HGNC	HGNC:2514	protein_coding	YES	CCDS2694.1	ENSP00000344456	P35222	A0A024R2Q3	UPI000012862F	NM_001904.3	deleterious(0)		3/15		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53										pathogenic	0,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1	1										PASS		rs121913409	.												T	3	4	72	41224646	41224646	C	T	1	0	0	0	0	1	0	0	0	3825	913	32	3		3	CTNNB1	3	41224646	Missense_Mutation	SNP	C	C3N-01072_TP		41224646	157070913	16	23370											
PXK	0	.	GRCh38	chr3	58391188	58391188	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcttgatgaagattaaaAatcagccaaaggaacggcta	17	10	8	6	1	2	3	1	2	1	1	2	4	2	4	1	2	2	1	1	2	7	4	novel		C3N-01072_TP	C3N-01072_NB	A	A																c.508A>C	p.Asn170His	p.N170H	ENST00000356151	6/18	185	148	37	220	220	0	strelka-varscan-mutect	PXK,missense_variant,p.Asn170His,ENST00000383716,NM_001289098.1;PXK,missense_variant,p.Asn137His,ENST00000463280,NM_001289101.1,NM_001289100.1;PXK,missense_variant,p.Asn153His,ENST00000479241,NM_001289095.1;PXK,missense_variant,p.Asn170His,ENST00000356151,NM_001289099.1,NM_001289096.1,NM_017771.4;PXK,missense_variant,p.Asn170His,ENST00000484288,;PXK,missense_variant,p.Asn170His,ENST00000302779,;PXK,missense_variant,p.Asn153His,ENST00000383715,;PXK,upstream_gene_variant,,ENST00000479134,;PXK,3_prime_UTR_variant,,ENST00000468776,;PXK,intron_variant,,ENST00000477308,;	C	ENST00000356151	Transcript	missense_variant	617/2037	508/1737	170/578	N/H	Aat/Cat		1		1	PXK	HGNC	HGNC:23326	protein_coding	YES	CCDS2889.1	ENSP00000348472	Q7Z7A4		UPI000004A035	NM_001289099.1,NM_001289096.1,NM_017771.4	tolerated(0.11)		6/18		PROSITE_profiles:PS50011,hmmpanther:PTHR22999																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	72	58391188	58391188	A	C	1	0	0	0	0	1	0	0	0	13003	14	1	5		5	PXK	3	58391188	Missense_Mutation	SNP	A	C3N-01072_TP	17166542	58391188	139904371	17	23371											
COPG1	0	.	GRCh38	chr3	129272834	129272834	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacattcagctgcatgatgaAgttcactgtcaaggactgtg	11	11	10	9	0	3	2	3	2	0	0	3	3	3	3	0	1	2	3	0	1	2	2	novel		C3N-01072_TP	C3N-01072_NB	A	A																c.2186A>C	p.Lys729Thr	p.K729T	ENST00000314797	21/24	149	132	17	126	126	0	strelka-varscan-mutect	COPG1,missense_variant,p.Lys729Thr,ENST00000314797,NM_016128.3;COPG1,missense_variant,p.Lys43Thr,ENST00000509889,;MIR6826,downstream_gene_variant,,ENST00000617808,;COPG1,missense_variant,p.Lys50Thr,ENST00000514478,;COPG1,non_coding_transcript_exon_variant,,ENST00000515725,;COPG1,upstream_gene_variant,,ENST00000512034,;	C	ENST00000314797	Transcript	missense_variant	2290/3078	2186/2625	729/874	K/T	aAg/aCg		1		1	COPG1	HGNC	HGNC:2236	protein_coding	YES	CCDS33851.1	ENSP00000325002	Q9Y678		UPI000000095F	NM_016128.3	deleterious(0.04)		21/24		Gene3D:1r4xA01,Pfam_domain:PF08752,PIRSF_domain:PIRSF037093,hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF3,Superfamily_domains:SSF49348																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	72	129272834	129272834	A	C	1	0	0	0	0	1	0	0	0	3523	72	3	5		5	COPG1	3	129272834	Missense_Mutation	SNP	A	C3N-01072_TP	70881646	129272834	69022725	18	23372											
GK5	0	.	GRCh38	chr3	142172447	142172447	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcacatgcccaggggtcatTtaatggagcctacagtaaga	12	8	12	9	0	1	1	1	0	0	1	1	2	1	2	2	4	3	2	2	4	3	4	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.1153A>C	p.Asn385His	p.N385H	ENST00000392993	13/16	212	191	21	175	175	0	strelka-varscan-mutect	GK5,missense_variant,p.Asn385His,ENST00000392993,NM_001039547.2;GK5,missense_variant,p.Asn39His,ENST00000486459,;GK5,3_prime_UTR_variant,,ENST00000480757,;GK5,3_prime_UTR_variant,,ENST00000492097,;GK5,3_prime_UTR_variant,,ENST00000463349,;GK5,non_coding_transcript_exon_variant,,ENST00000460515,;	G	ENST00000392993	Transcript	missense_variant	1305/9837	1153/1590	385/529	N/H	Aat/Cat		1		-1	GK5	HGNC	HGNC:28635	protein_coding	YES	CCDS33871.1	ENSP00000418001	Q6ZS86		UPI000069B0CB	NM_001039547.2	deleterious(0.04)		13/16		Gene3D:3.30.420.40,Pfam_domain:PF02782,PIRSF_domain:PIRSF000538,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF68,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	72	142172447	142172447	T	G	1	0	0	0	0	1	0	0	0	6300	1841	64	5		5	GK5	3	142172447	Missense_Mutation	SNP	T	C3N-01072_TP	12899613	142172447	56123112	19	23373											
IGSF10	0	.	GRCh38	chr3	151438436	151438457	+	Frame_Shift_Del	DEL	TGGTCAATTTTGGCAGGTTTCA	TGGTCAATTTTGGCAGGTTTCA	-																															gctttctaaaatactgcttgTggtcaattttggcaggtttc																								novel		C3N-01072_TP	C3N-01072_NB	TGGTCAATTTTGGCAGGTTTCA	TGGTCAATTTTGGCAGGTTTCA																c.6104_6125delTGAAACCTGCCAAAATTGACCA	p.Leu2035ProfsTer17	p.L2035Pfs*17	ENST00000282466	6/6	495	428	67	375	375	0	sindel-varindel-pindel	IGSF10,frameshift_variant,p.Leu2035ProfsTer17,ENST00000282466,NM_178822.4;IGSF10,intron_variant,,ENST00000489791,;MED12L,downstream_gene_variant,,ENST00000474524,NM_053002.5;MED12L,downstream_gene_variant,,ENST00000273432,;IGSF10,non_coding_transcript_exon_variant,,ENST00000495443,;IGSF10,non_coding_transcript_exon_variant,,ENST00000493841,;IGSF10,upstream_gene_variant,,ENST00000497472,;	-	ENST00000282466	Transcript	frameshift_variant	6104-6125/11067	6104-6125/7872	2035-2042/2623	LKPAKIDH/X	cTGAAACCTGCCAAAATTGACCAc/cc		1		-1	IGSF10	HGNC	HGNC:26384	protein_coding	YES	CCDS3160.1	ENSP00000282466	Q6WRI0		UPI00001D629A	NM_178822.4			6/6		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	72	151438436	151438436	TGGTCAATTTTGGCAGGTTTCA	-	1	0	1	0	1	0	0	0	0	7504	1696	59	0		0	IGSF10	3	151438436	Frame_Shift_Del	DEL	TGGTCAATTTTGGCAGGTTTCA	C3N-01072_TP	9265989	151438436	46857123	20	23374											
WDR49	0	.	GRCh38	chr3	167566851	167566851	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttattgagtggaagtcaaTtatcataagggtcttcattc	12	16	8	5	0	4	1	3	1	1	0	5	2	4	2	0	2	0	0	0	2	5	7	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.1553A>C	p.Asn518Thr	p.N518T	ENST00000479765	9/10	131	102	29	113	113	0	strelka-varscan-mutect	WDR49,missense_variant,p.Asn518Thr,ENST00000479765,;WDR49,intron_variant,,ENST00000308378,NM_178824.3;WDR49,intron_variant,,ENST00000472600,;WDR49,intron_variant,,ENST00000466760,;WDR49,non_coding_transcript_exon_variant,,ENST00000476376,;WDR49,intron_variant,,ENST00000460448,;	G	ENST00000479765	Transcript	missense_variant	1777/2108	1553/1557	518/518	N/T	aAt/aCt		1		-1	WDR49	HGNC	HGNC:26587	protein_coding			ENSP00000419749		E9PDB0	UPI000013ED1E				9/10		Coiled-coils_(Ncoils):Coil																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	72	167566851	167566851	T	G	1	0	0	0	0	1	0	0	0	17862	1493	52	5		5	WDR49	3	167566851	Missense_Mutation	SNP	T	C3N-01072_TP	16128415	167566851	30728708	21	23375											
VWA5B2	0	.	GRCh38	chr3	184233231	184233231	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacgttggtgctgcccacaGgcattatcgccgcggctggc	5	8	13	15	4	0	0	0	0	0	0	1	0	0	0	3	4	2	4	3	4	1	2	novel		C3N-01072_TP	C3N-01072_NB	G	G																c.364G>C	p.Gly122Arg	p.G122R	ENST00000426955	3/19	200	164	36	186	186	0	strelka-varscan-mutect	VWA5B2,missense_variant,p.Gly122Arg,ENST00000426955,NM_138345.1;VWA5B2,upstream_gene_variant,,ENST00000273794,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000497229,;VWA5B2,upstream_gene_variant,,ENST00000461141,;VWA5B2,upstream_gene_variant,,ENST00000474580,;	C	ENST00000426955	Transcript	missense_variant	464/4120	364/3729	122/1242	G/R	Ggc/Cgc		1		1	VWA5B2	HGNC	HGNC:25144	protein_coding	YES	CCDS54686.1	ENSP00000398688	Q8N398		UPI0000412DE9	NM_138345.1	deleterious(0)		3/19		PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107																	MODERATE	1	SNV	1			1										PASS		rs1041312243	.												C	3	2	72	184233231	184233231	G	C	1	0	0	0	0	1	0	0	0	17798	1000	35	4		4	VWA5B2	3	184233231	Missense_Mutation	SNP	G	C3N-01072_TP	16666380	184233231	14062328	22	23376											
CPE	0	.	GRCh38	chr4	165467792	165467792	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagtgtacgtgaatgagaaAgaaggtggtccaaataatca	17	9	11	4	1	1	3	1	2	0	2	2	4	2	3	1	2	1	1	1	2	7	3	novel		C3N-01072_TP	C3N-01072_NB	A	A																c.609A>G	p.=	p.K203K	ENST00000402744	3/9	232	180	52	181	181	0	strelka-varscan-mutect	CPE,synonymous_variant,p.=,ENST00000402744,NM_001873.2;CPE,synonymous_variant,p.=,ENST00000431967,;CPE,synonymous_variant,p.=,ENST00000513982,;CPE,synonymous_variant,p.=,ENST00000511992,;	G	ENST00000402744	Transcript	synonymous_variant	889/2421	609/1431	203/476	K	aaA/aaG		1		1	CPE	HGNC	HGNC:2303	protein_coding	YES	CCDS3810.1	ENSP00000386104	P16870		UPI000000163E	NM_001873.2			3/9		hmmpanther:PTHR11532,Pfam_domain:PF00246,Gene3D:3.40.630.10,SMART_domains:SM00631,Superfamily_domains:SSF53187																	LOW	1	SNV	1			1										PASS		rs750690232	.												G	2	3	72	165467792	165467792	A	G	1	0	0	0	0	0	0	0	1	3593	69	3	5		5	CPE	4	165467792	Silent	SNP	A	C3N-01072_TP		165467792	24746763	23	23377											
RASGRF2	0	.	GRCh38	chr5	81080138	81080138	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtgaaacaatcatgtttcTtcatgaaatatttcatcaag	15	15	5	6	0	5	2	4	2	1	0	5	2	5	2	0	0	1	1	0	0	6	5	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.905T>G	p.Leu302Arg	p.L302R	ENST00000265080	6/27	185	152	33	146	145	1	strelka-varscan-mutect	RASGRF2,missense_variant,p.Leu302Arg,ENST00000265080,NM_006909.2;RASGRF2,non_coding_transcript_exon_variant,,ENST00000502677,;RASGRF2,missense_variant,p.Leu302Arg,ENST00000503795,;	G	ENST00000265080	Transcript	missense_variant	972/8167	905/3714	302/1237	L/R	cTt/cGt		1		1	RASGRF2	HGNC	HGNC:9876	protein_coding	YES	CCDS4052.1	ENSP00000265080	O14827		UPI0000047ABF	NM_006909.2	deleterious(0)		6/27		PROSITE_profiles:PS50010,hmmpanther:PTHR23113:SF187,hmmpanther:PTHR23113,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	72	81080138	81080138	T	G	1	0	0	0	0	1	0	0	0	13234	1609	56	5		5	RASGRF2	5	81080138	Missense_Mutation	SNP	T	C3N-01072_TP		81080138	100458121	24	23378											
DNAJC18	0	.	GRCh38	chr5	139420091	139420091	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaactagtctggatataaTcaatgtaatccttctctatt	14	15	4	8	0	3	0	1	0	2	0	5	1	4	1	1	1	2	1	1	1	8	7	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.914A>C	p.Asp305Ala	p.D305A	ENST00000302060	7/8	102	77	25	94	94	0	varscan-mutect	DNAJC18,missense_variant,p.Asp305Ala,ENST00000302060,NM_152686.3;DNAJC18,missense_variant,p.Asp138Ala,ENST00000508445,;DNAJC18,missense_variant,p.Asp97Ala,ENST00000514052,;DNAJC18,downstream_gene_variant,,ENST00000507405,;DNAJC18,non_coding_transcript_exon_variant,,ENST00000510770,;DNAJC18,downstream_gene_variant,,ENST00000505568,;DNAJC18,downstream_gene_variant,,ENST00000506870,;	G	ENST00000302060	Transcript	missense_variant	995/5103	914/1077	305/358	D/A	gAt/gCt		1		-1	DNAJC18	HGNC	HGNC:28429	protein_coding	YES	CCDS4214.1	ENSP00000302843	Q9H819		UPI00000375B2	NM_152686.3	tolerated(0.72)		7/8		Pfam_domain:PF09320																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	72	139420091	139420091	T	G	1	0	0	0	0	1	0	0	0	4451	1435	50	5		5	DNAJC18	5	139420091	Missense_Mutation	SNP	T	C3N-01072_TP	58339953	139420091	42118168	25	23379											
TENM2	0	.	GRCh38	chr5	168199926	168199926	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgctatctgagctctagAactgcagggtacaagtcact	10	11	9	11	1	3	2	1	1	2	1	4	2	3	2	0	1	4	4	0	1	5	4	novel		C3N-01072_TP	C3N-01072_NB	A	A																c.3225A>C	p.Arg1075Ser	p.R1075S	ENST00000518659	17/29	315	250	65	258	258	0	strelka-varscan-mutect	TENM2,missense_variant,p.Arg954Ser,ENST00000519204,;TENM2,missense_variant,p.Arg1075Ser,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Arg843Ser,ENST00000520394,;	C	ENST00000518659	Transcript	missense_variant	3264/8550	3225/8325	1075/2774	R/S	agA/agC		1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1	deleterious(0)		17/29		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	72	168199926	168199926	A	C	1	0	0	0	0	1	0	0	0	16172	243	9	5		5	TENM2	5	168199926	Missense_Mutation	SNP	A	C3N-01072_TP	28779835	168199926	13338333	26	23380											
PANK3	0	.	GRCh38	chr5	168561392	168561392	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtgttttttgtttttttaCctcattaacagcacacattc	8	21	4	8	0	1	0	1	0	0	0	2	0	1	0	1	0	3	3	1	0	2	10			C3N-01072_TP	C3N-01072_NB	C	C																c.936+1G>A		p.X312_splice	ENST00000239231		39	35	4	45	45	0	varscan-mutect	PANK3,splice_donor_variant,,ENST00000239231,NM_024594.3;PANK3,downstream_gene_variant,,ENST00000522176,;MIR103A1,upstream_gene_variant,,ENST00000362165,;MIR103B1,downstream_gene_variant,,ENST00000636572,;PANK3,splice_donor_variant,,ENST00000520504,;	T	ENST00000239231	Transcript	splice_donor_variant	-/10506	936/1113	312/370			COSM1435884	1		-1	PANK3	HGNC	HGNC:19365	protein_coding	YES	CCDS4368.1	ENSP00000239231	Q9H999		UPI0000131D4D	NM_024594.3				5/6												1						HIGH	1	SNV	1		1	1										PASS		rs1414917096	.												T	5	4	72	168561392	168561392	C	T	1	0	0	0	0	0	0	1	0	11499	521	18	3		3	PANK3	5	168561392	Splice_Site	SNP	C	C3N-01072_TP	361466	168561392	12976867	27	23381											
CPLX2	0	.	GRCh38	chr5	175879028	175879028	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggaggagcgtaaggccaAgcacgcgcgcatggaggcgg	10	2	20	9	5	0	0	0	0	0	0	0	4	0	4	1	7	2	3	1	7	2	1	novel		C3N-01072_TP	C3N-01072_NB	A	A																c.152A>C	p.Lys51Thr	p.K51T	ENST00000359546	4/5	174	139	35	164	164	0	strelka-varscan-mutect	CPLX2,missense_variant,p.Lys51Thr,ENST00000359546,NM_006650.3;CPLX2,missense_variant,p.Lys51Thr,ENST00000514150,;CPLX2,missense_variant,p.Lys51Thr,ENST00000393745,NM_001008220.1;CPLX2,missense_variant,p.Lys51Thr,ENST00000515094,;CPLX2,missense_variant,p.Lys51Thr,ENST00000509837,;CPLX2,missense_variant,p.Lys51Thr,ENST00000502265,;CPLX2,missense_variant,p.Lys51Thr,ENST00000512824,;CPLX2,downstream_gene_variant,,ENST00000515025,;CPLX2,downstream_gene_variant,,ENST00000515502,;	C	ENST00000359546	Transcript	missense_variant	795/5023	152/405	51/134	K/T	aAg/aCg		1		1	CPLX2	HGNC	HGNC:2310	protein_coding	YES	CCDS4396.1	ENSP00000352544	Q6PUV4		UPI0000027525	NM_006650.3	deleterious(0)		4/5		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16705,hmmpanther:PTHR16705:SF9,Gene3D:1kilE00,Pfam_domain:PF05835,Superfamily_domains:SSF58038																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	72	175879028	175879028	A	C	1	0	0	0	0	1	0	0	0	3600	72	3	5		5	CPLX2	5	175879028	Missense_Mutation	SNP	A	C3N-01072_TP	7317636	175879028	5659231	28	23382											
HLA-C	0	.	GRCh38	chr6	31270478	31270478	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggtcacgtgtgtcttTgggggttctgacgggaagag	5	12	19	5	2	3	2	1	1	2	1	3	3	3	3	0	5	0	1	0	5	1	2	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.627A>G	p.=	p.P209P	ENST00000376228	4/8	126	107	19	130	130	0	strelka-varscan	HLA-C,synonymous_variant,p.=,ENST00000383329,;HLA-C,synonymous_variant,p.=,ENST00000376228,NM_002117.5;HLA-C,synonymous_variant,p.=,ENST00000415537,;HLA-C,3_prime_UTR_variant,,ENST00000376237,;HLA-C,non_coding_transcript_exon_variant,,ENST00000487245,;HLA-C,non_coding_transcript_exon_variant,,ENST00000495835,;HLA-C,upstream_gene_variant,,ENST00000470363,;HLA-C,downstream_gene_variant,,ENST00000484378,;HLA-C,upstream_gene_variant,,ENST00000466892,;	C	ENST00000376228	Transcript	synonymous_variant	642/1536	627/1101	209/366	P	ccA/ccG		1		-1	HLA-C	HGNC	HGNC:4933	protein_coding	YES	CCDS34393.1	ENSP00000365402	P10321	Q6R739	UPI000008AEBB	NM_002117.5			4/8		PROSITE_profiles:PS50835,hmmpanther:PTHR16675:SF185,hmmpanther:PTHR16675,Gene3D:3.30.500.10,Superfamily_domains:SSF48726																	LOW	1	SNV				1										PASS		.	.												C	2	2	72	31270478	31270478	T	C	1	0	0	0	0	0	0	0	1	7086	1799	63	5		5	HLA-C	6	31270478	Silent	SNP	T	C3N-01072_TP		31270478	139535501	29	23383											
DGKB	0	.	GRCh38	chr7	14338551	14338551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactctttggcatctgtgaCggtggtccttttgtcagacc	6	14	10	11	1	3	2	1	1	2	1	4	2	4	2	2	3	1	1	2	3	1	3	novel		C3N-01072_TP	C3N-01072_NB	C	C																c.2089G>A	p.Val697Ile	p.V697I	ENST00000403951	23/26	95	79	16	100	100	0	strelka-varscan-mutect	DGKB,missense_variant,p.Val697Ile,ENST00000403951,;DGKB,missense_variant,p.Val697Ile,ENST00000399322,NM_004080.2;DGKB,missense_variant,p.Val696Ile,ENST00000402815,;DGKB,missense_variant,p.Val689Ile,ENST00000407950,;DGKB,missense_variant,p.Val697Ile,ENST00000406247,NM_145695.2;DGKB,non_coding_transcript_exon_variant,,ENST00000403963,;	T	ENST00000403951	Transcript	missense_variant	2509/6917	2089/2415	697/804	V/I	Gtc/Atc		1		-1	DGKB	HGNC	HGNC:2850	protein_coding	YES	CCDS47547.1	ENSP00000385780	Q9Y6T7		UPI0000033B9B		tolerated(0.87)		23/26		Pfam_domain:PF00609,SMART_domains:SM00045																	MODERATE	1	SNV	5			1										PASS		rs1424437545	.												T	3	4	72	14338551	14338551	C	T	1	0	0	0	0	1	0	0	0	4272	536	19	1		1	DGKB	7	14338551	Missense_Mutation	SNP	C	C3N-01072_TP		14338551	145007422	30	23384											
MYO1G	0	.	GRCh38	chr7	44969706	44969706	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacagccgggggcaccTggcggctggtgtagtgtagg	5	7	20	9	2	0	0	0	0	0	0	0	1	0	1	2	7	1	4	2	7	2	2	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.1502A>G	p.Gln501Arg	p.Q501R	ENST00000258787	11/22	150	123	27	154	154	0	strelka-varscan-mutect	MYO1G,missense_variant,p.Gln501Arg,ENST00000258787,NM_033054.2;MYO1G,splice_region_variant,,ENST00000488554,;MYO1G,splice_region_variant,,ENST00000463516,;MYO1G,splice_region_variant,,ENST00000483585,;MYO1G,splice_region_variant,,ENST00000495831,;MYO1G,splice_region_variant,,ENST00000464434,;MYO1G,non_coding_transcript_exon_variant,,ENST00000480503,;	C	ENST00000258787	Transcript	missense_variant,splice_region_variant	1639/3267	1502/3057	501/1018	Q/R	cAg/cGg		1		-1	MYO1G	HGNC	HGNC:13880	protein_coding	YES	CCDS34629.1	ENSP00000258787	B0I1T2		UPI00001D747C	NM_033054.2	tolerated(0.21)		11/22		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF381,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	72	44969706	44969706	T	C	1	0	0	0	0	1	0	0	0	10075	1594	55	5		5	MYO1G	7	44969706	Missense_Mutation	SNP	T	C3N-01072_TP	30631155	44969706	114376267	31	23385											
ABCA13	0	.	GRCh38	chr7	48506367	48506367	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacagccacccatatggaggGgccttgctgaacgaggacaa	12	6	12	11	1	0	1	0	1	0	0	0	4	0	3	3	4	4	1	3	4	4	3	novel		C3N-01072_TP	C3N-01072_NB	G	G																c.13323G>C	p.=	p.G4441G	ENST00000435803	49/62	275	235	40	293	293	0	strelka-varscan-mutect	ABCA13,synonymous_variant,p.=,ENST00000435803,NM_152701.4;ABCA13,synonymous_variant,p.=,ENST00000544596,;ABCA13,synonymous_variant,p.=,ENST00000411975,;ABCA13,upstream_gene_variant,,ENST00000435451,;ABCA13,non_coding_transcript_exon_variant,,ENST00000611776,;ABCA13,synonymous_variant,p.=,ENST00000453246,;	C	ENST00000435803	Transcript	synonymous_variant	13347/17184	13323/15177	4441/5058	G	ggG/ggC		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4			49/62		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Pfam_domain:PF12698																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	72	48506367	48506367	G	C	1	0	0	0	0	0	0	0	1	35	1219	43	4		4	ABCA13	7	48506367	Silent	SNP	G	C3N-01072_TP	3536661	48506367	110839606	32	23386											
GTF2IRD1	0	.	GRCh38	chr7	74601073	74601073	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcattcccaagcgcaagAgaaagcgggtctcggaagga	13	4	14	10	3	1	1	0	0	1	1	3	4	2	3	1	3	3	3	1	3	4	1	novel		C3N-01072_TP	C3N-01072_NB	A	A																c.2755A>G	p.Arg919Gly	p.R919G	ENST00000455841	26/27	230	180	50	233	233	0	strelka-varscan-mutect	GTF2IRD1,missense_variant,p.Arg887Gly,ENST00000476977,;GTF2IRD1,missense_variant,p.Arg902Gly,ENST00000265755,NM_016328.2;GTF2IRD1,missense_variant,p.Arg919Gly,ENST00000455841,NM_001199207.1;GTF2IRD1,missense_variant,p.Arg887Gly,ENST00000424337,NM_005685.3;GTF2IRD1,missense_variant,p.Arg265Gly,ENST00000470715,;GTF2IRD1,non_coding_transcript_exon_variant,,ENST00000486086,;	G	ENST00000455841	Transcript	missense_variant	2968/3315	2755/2931	919/976	R/G	Aga/Gga		1		1	GTF2IRD1	HGNC	HGNC:4661	protein_coding	YES	CCDS56492.1	ENSP00000397566	Q9UHL9		UPI00003BF92B	NM_001199207.1	deleterious(0.05)		26/27		PIRSF_domain:PIRSF016441																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	72	74601073	74601073	A	G	1	0	0	0	0	1	0	0	0	6749	296	11	5		5	GTF2IRD1	7	74601073	Missense_Mutation	SNP	A	C3N-01072_TP	26094706	74601073	84744900	33	23387											
CYP3A43	0	.	GRCh38	chr7	99828162	99828162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacatgggttcttgtggCtaccagcctggtactcctct	7	12	11	11	0	2	0	0	0	2	0	3	1	3	1	3	4	4	3	3	4	3	4	novel		C3N-01072_TP	C3N-01072_NB	C	C																c.47C>T	p.Ala16Val	p.A16V	ENST00000222382	1/13	77	63	14	101	101	0	strelka-varscan-mutect	CYP3A43,missense_variant,p.Ala16Val,ENST00000354829,NM_057095.2;CYP3A43,missense_variant,p.Ala16Val,ENST00000222382,NM_022820.4;CYP3A43,missense_variant,p.Ala16Val,ENST00000342499,;CYP3A43,missense_variant,p.Ala16Val,ENST00000312017,NM_057096.3;CYP3A43,missense_variant,p.Ala16Val,ENST00000417625,NM_001278921.1;CYP3A43,missense_variant,p.Ala16Val,ENST00000415413,;CYP3A43,missense_variant,p.Ala16Val,ENST00000631161,;CYP3A43,synonymous_variant,p.=,ENST00000444905,;CYP3A43,non_coding_transcript_exon_variant,,ENST00000477658,;CYP3A43,non_coding_transcript_exon_variant,,ENST00000491648,;CYP3A43,non_coding_transcript_exon_variant,,ENST00000495115,;CYP3A43,non_coding_transcript_exon_variant,,ENST00000463915,;CYP3A43,missense_variant,p.Ala16Val,ENST00000434806,;CYP3A43,missense_variant,p.Ala16Val,ENST00000433277,;CYP3A43,missense_variant,p.Ala16Val,ENST00000436834,;CYP3A43,non_coding_transcript_exon_variant,,ENST00000481362,;	T	ENST00000222382	Transcript	missense_variant	47/1515	47/1515	16/504	A/V	gCt/gTt		1		1	CYP3A43	HGNC	HGNC:17450	protein_coding	YES	CCDS5675.1	ENSP00000222382	Q9HB55		UPI000002A50E	NM_022820.4	tolerated(0.51)		1/13		Prints_domain:PR01689,hmmpanther:PTHR24302,hmmpanther:PTHR24302:SF6,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	72	99828162	99828162	C	T	1	0	0	0	0	1	0	0	0	3982	797	28	3		3	CYP3A43	7	99828162	Missense_Mutation	SNP	C	C3N-01072_TP	25227089	99828162	59517811	34	23388											
OR2AE1	0	.	GRCh38	chr7	99876605	99876605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccatgacatgacagccatCatcagtcccaccttcttgtt	11	11	5	14	0	3	2	2	2	1	0	4	2	4	2	4	0	2	1	4	0	1	3	novel		C3N-01072_TP	C3N-01072_NB	C	C																c.429G>A	p.Met143Ile	p.M143I	ENST00000316368	1/1	346	271	75	299	299	0	strelka-varscan-mutect	OR2AE1,missense_variant,p.Met143Ile,ENST00000316368,NM_001005276.1;TRIM4,downstream_gene_variant,,ENST00000447480,;CYP3A52P,downstream_gene_variant,,ENST00000563326,;	T	ENST00000316368	Transcript	missense_variant	453/1071	429/972	143/323	M/I	atG/atA		1		-1	OR2AE1	HGNC	HGNC:15087	protein_coding	YES	CCDS34696.1	ENSP00000313936	Q8NHA4		UPI000004B1E7	NM_001005276.1	tolerated(0.11)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF196,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1486112581	.												T	3	4	72	99876605	99876605	C	T	1	0	0	0	0	1	0	0	0	11060	826	29	3		3	OR2AE1	7	99876605	Missense_Mutation	SNP	C	C3N-01072_TP	48443	99876605	59469368	35	23389											
ZNF786	0	.	GRCh38	chr7	149071939	149071939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggatgggtcagctcgtgtCggaagcacatttcaccgtca	8	10	13	10	3	3	0	3	0	0	0	5	2	3	2	1	3	2	2	1	3	1	1	novel		C3N-01072_TP	C3N-01072_NB	C	C																c.833G>A	p.Arg278Gln	p.R278Q	ENST00000491431	4/4	105	80	25	99	99	0	strelka-varscan-mutect	ZNF786,missense_variant,p.Arg192Gln,ENST00000316286,;ZNF786,missense_variant,p.Arg278Gln,ENST00000491431,NM_152411.3;	T	ENST00000491431	Transcript	missense_variant	898/2874	833/2349	278/782	R/Q	cGa/cAa		1		-1	ZNF786	HGNC	HGNC:21806	protein_coding	YES	CCDS47738.1	ENSP00000417470	Q8N393		UPI000013FD40	NM_152411.3	tolerated(0.54)		4/4		Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1445416724	.												T	3	4	72	149071939	149071939	C	T	1	0	0	0	0	1	0	0	0	18742	884	31	1		1	ZNF786	7	149071939	Missense_Mutation	SNP	C	C3N-01072_TP	49195334	149071939	10274034	36	23390											
PARP10	0	.	GRCh38	chr8	143983376	143983376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcgccagggccccaccGtctcctcctggacgtggacc	4	6	13	18	4	1	0	0	0	1	0	3	2	2	2	7	4	1	0	7	4	0	0	rs782458070		C3N-01072_TP	C3N-01072_NB	G	G																c.2213C>T	p.Thr738Met	p.T738M	ENST00000313028	8/11	203	174	29	216	216	0	strelka-varscan-mutect	PARP10,missense_variant,p.Thr738Met,ENST00000313028,NM_032789.3;PARP10,missense_variant,p.Thr729Met,ENST00000524918,;PARP10,missense_variant,p.Thr750Met,ENST00000525773,NM_001317895.1;PARP10,downstream_gene_variant,,ENST00000313059,;PARP10,downstream_gene_variant,,ENST00000525879,;PARP10,downstream_gene_variant,,ENST00000528136,;PARP10,downstream_gene_variant,,ENST00000529842,;PARP10,downstream_gene_variant,,ENST00000528625,;PARP10,downstream_gene_variant,,ENST00000528914,;PARP10,downstream_gene_variant,,ENST00000530478,;PARP10,downstream_gene_variant,,ENST00000531537,;PARP10,downstream_gene_variant,,ENST00000525486,;PARP10,downstream_gene_variant,,ENST00000529311,;PARP10,downstream_gene_variant,,ENST00000531707,;PARP10,downstream_gene_variant,,ENST00000532311,;PARP10,downstream_gene_variant,,ENST00000533665,;PARP10,downstream_gene_variant,,ENST00000534737,;PARP10,downstream_gene_variant,,ENST00000532660,;PARP10,missense_variant,p.Thr738Met,ENST00000527262,;PARP10,non_coding_transcript_exon_variant,,ENST00000526007,;PARP10,downstream_gene_variant,,ENST00000528963,;PARP10,downstream_gene_variant,,ENST00000526985,;PARP10,downstream_gene_variant,,ENST00000528580,;	A	ENST00000313028	Transcript	missense_variant	2308/3497	2213/3078	738/1025	T/M	aCg/aTg	rs782458070	1		-1	PARP10	HGNC	HGNC:25895	protein_coding	YES	CCDS34960.1	ENSP00000325618	Q53GL7		UPI0000251FAB	NM_032789.3	deleterious(0.01)		8/11		hmmpanther:PTHR14453:SF53,hmmpanther:PTHR14453																	MODERATE	1	SNV	1			1										PASS		rs782458070	.												A	3	1	72	143983376	143983376	G	A	1	0	0	0	0	1	0	0	0	11535	1145	40	1		1	PARP10	8	143983376	Missense_Mutation	SNP	G	C3N-01072_TP		143983376	1155260	37	23391											
RANBP6	0	.	GRCh38	chr9	6013011	6013011	+	Frame_Shift_Del	DEL	A	A	-																															gtagttgttcaaaccatggtAaaatcttttccttataagta																								novel		C3N-01072_TP	C3N-01072_NB	A	A																c.2597delT	p.Leu866TyrfsTer10	p.L866Yfs*10	ENST00000259569	1/1	160	117	43	179	179	0	sindel-varindel-pindel	RANBP6,frameshift_variant,p.Leu866TyrfsTer10,ENST00000259569,NM_012416.3;RANBP6,downstream_gene_variant,,ENST00000485372,NM_001243203.1;RANBP6,downstream_gene_variant,,ENST00000623170,;	-	ENST00000259569	Transcript	frameshift_variant	2608/4576	2597/3318	866/1105	L/X	tTa/ta		1		-1	RANBP6	HGNC	HGNC:9851	protein_coding	YES	CCDS6467.1	ENSP00000259569	O60518		UPI000013D061	NM_012416.3			1/1		Gene3D:1.25.10.10,hmmpanther:PTHR10527,hmmpanther:PTHR10527:SF16,Superfamily_domains:SSF48371																	HIGH	1	deletion				1										PASS		.	.												-	7	5	72	6013011	6013011	A	-	1	0	1	0	1	0	0	0	0	13190	372	13	0		0	RANBP6	9	6013011	Frame_Shift_Del	DEL	A	C3N-01072_TP		6013011	132381706	38	23392											
GADD45G	0	.	GRCh38	chr9	89605128	89605128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggttgatcgcactatgactCtggaagaagtccgcggccag	9	9	13	10	3	1	3	0	2	1	1	3	4	2	4	2	3	0	2	2	3	3	2	novel		C3N-01072_TP	C3N-01072_NB	C	C																c.7C>G	p.Leu3Val	p.L3V	ENST00000252506	1/4	265	201	64	307	307	0	strelka-varscan-mutect	GADD45G,missense_variant,p.Leu3Val,ENST00000252506,NM_006705.3;GADD45G,5_prime_UTR_variant,,ENST00000375769,;GADD45G,non_coding_transcript_exon_variant,,ENST00000494726,;	G	ENST00000252506	Transcript	missense_variant	116/1065	7/480	3/159	L/V	Ctg/Gtg		1		1	GADD45G	HGNC	HGNC:4097	protein_coding	YES	CCDS6686.1	ENSP00000252506	O95257		UPI000012AEF1	NM_006705.3	deleterious(0.03)		1/4		hmmpanther:PTHR10411,hmmpanther:PTHR10411:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	72	89605128	89605128	C	G	1	0	0	0	0	1	0	0	0	6054	912	32	4		4	GADD45G	9	89605128	Missense_Mutation	SNP	C	C3N-01072_TP	83592117	89605128	48789589	39	23393											
SLIT1	0	.	GRCh38	chr10	97043505	97043505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctgatgcggttgttcCgcagcattctggggaggaac	7	10	15	9	2	1	1	0	1	1	0	2	3	2	3	1	4	5	6	1	4	1	3	rs756326446		C3N-01072_TP	C3N-01072_NB	C	C																c.1862G>A	p.Arg621Gln	p.R621Q	ENST00000266058	19/37	176	146	30	217	217	0	strelka-varscan-mutect	SLIT1,missense_variant,p.Arg621Gln,ENST00000266058,NM_003061.2;SLIT1,missense_variant,p.Arg621Gln,ENST00000371070,;SLIT1,missense_variant,p.Arg614Gln,ENST00000314867,;	T	ENST00000266058	Transcript	missense_variant	2108/7925	1862/4605	621/1534	R/Q	cGg/cAg	rs756326446,COSM386304	1		-1	SLIT1	HGNC	HGNC:11085	protein_coding	YES	CCDS7453.1	ENSP00000266058	O75093		UPI00001F9491	NM_003061.2	deleterious(0.01)		19/37		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF39,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs756326446	.												T	3	4	72	97043505	97043505	C	T	1	0	0	0	0	1	0	0	0	15030	652	23	1		1	SLIT1	10	97043505	Missense_Mutation	SNP	C	C3N-01072_TP		97043505	36753917	40	23394											
C10orf62	0	.	GRCh38	chr10	97589940	97589952	+	Frame_Shift_Del	DEL	GAGTGTCCATCAG	GAGTGTCCATCAG	-																															ggagaagaaaggaaacctctGagtgtccatcagacaaggac																								novel		C3N-01072_TP	C3N-01072_NB	GAGTGTCCATCAG	GAGTGTCCATCAG																c.43_55delGAGTGTCCATCAG	p.Glu15ThrfsTer57	p.E15Tfs*57	ENST00000370640	1/1	150	116	34	192	192	0	sindel-varindel-pindel	C10orf62,frameshift_variant,p.Glu15ThrfsTer57,ENST00000370640,NM_001009997.2;HOGA1,intron_variant,,ENST00000370646,NM_138413.3;HOGA1,intron_variant,,ENST00000370647,NM_001134670.1;RP11-548K23.11,intron_variant,,ENST00000370649,;HOGA1,intron_variant,,ENST00000465608,;	-	ENST00000370640	Transcript	frameshift_variant	214-226/1208	43-55/672	15-19/223	ECPSD/X	GAGTGTCCATCAGac/ac		1		1	C10orf62	HGNC	HGNC:23294	protein_coding	YES	CCDS31261.1	ENSP00000359674	Q5T681		UPI000046FEE3	NM_001009997.2			1/1		hmmpanther:PTHR23008:SF0,hmmpanther:PTHR23008																	HIGH		deletion				1										PASS		.	.												-	7	5	72	97589940	97589940	GAGTGTCCATCAG	-	1	0	1	0	1	0	0	0	0	1767	1291	45	0		0	C10orf62	10	97589940	Frame_Shift_Del	DEL	GAGTGTCCATCAG	C3N-01072_TP	546435	97589940	36207482	41	23395											
BTBD16	0	.	GRCh38	chr10	122299003	122299003	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggcttttttttgtcttaGtacaaggaagagcagctcac	10	14	9	8	0	2	1	1	0	1	1	2	2	2	2	0	2	3	4	0	2	4	6	novel		C3N-01072_TP	C3N-01072_NB	G	G																c.661-1G>T		p.X221_splice	ENST00000260723		98	91	7	97	96	1	varscan-mutect	BTBD16,splice_acceptor_variant,,ENST00000260723,NM_001318189.1,NM_144587.2;	T	ENST00000260723	Transcript	splice_acceptor_variant	-/1849	661/1521	221/506				1		1	BTBD16	HGNC	HGNC:26340	protein_coding	YES	CCDS31301.1	ENSP00000260723	Q32M84		UPI00003CEFB9	NM_001318189.1,NM_144587.2				8/15																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	72	122299003	122299003	G	T	1	0	0	0	0	0	0	1	0	1715	1043	36	2		2	BTBD16	10	122299003	Splice_Site	SNP	G	C3N-01072_TP	24709063	122299003	11498419	42	23396											
UBQLN3	0	.	GRCh38	chr11	5508982	5508982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgcatatgggggttgtCaagaaccagctggcgtacta	9	10	13	9	1	1	1	1	0	0	1	1	1	1	1	1	3	5	5	1	3	5	4	novel		C3N-01072_TP	C3N-01072_NB	C	C																c.577G>A	p.Asp193Asn	p.D193N	ENST00000311659	2/2	182	150	32	181	181	0	strelka-varscan-mutect	UBQLN3,missense_variant,p.Asp193Asn,ENST00000311659,NM_017481.2;UBQLN3,missense_variant,p.Asp193Asn,ENST00000445998,;HBG2,intron_variant,,ENST00000380259,;HBE1,upstream_gene_variant,,ENST00000380237,;HBG2,upstream_gene_variant,,ENST00000380252,;HBE1,upstream_gene_variant,,ENST00000396895,;AC104389.28,upstream_gene_variant,,ENST00000415970,;AC104389.28,upstream_gene_variant,,ENST00000418729,;AC104389.28,upstream_gene_variant,,ENST00000420465,;AC104389.28,upstream_gene_variant,,ENST00000420726,;	T	ENST00000311659	Transcript	missense_variant	725/2407	577/1968	193/655	D/N	Gac/Aac		1		-1	UBQLN3	HGNC	HGNC:12510	protein_coding	YES	CCDS7758.1	ENSP00000347997	Q9H347	A0A140VJZ3	UPI000006E3A0	NM_017481.2	tolerated(0.5)		2/2		hmmpanther:PTHR10677:SF4,hmmpanther:PTHR10677																	MODERATE	1	SNV	1			1										PASS		rs756933169	.												T	3	4	72	5508982	5508982	C	T	1	0	0	0	0	1	0	0	0	17422	826	29	3		3	UBQLN3	11	5508982	Missense_Mutation	SNP	C	C3N-01072_TP		5508982	129577640	43	23397											
FERMT3	0	.	GRCh38	chr11	64210838	64210838	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggctgccatctgccgcCtcctcagtaagttgcccggc	4	10	11	16	2	2	0	1	0	1	0	3	0	3	0	5	2	3	3	5	2	1	2	novel		C3N-01072_TP	C3N-01072_NB	C	C																c.388C>G	p.Leu130Val	p.L130V	ENST00000279227	3/15	305	243	62	325	325	0	strelka-varscan-mutect	FERMT3,missense_variant,p.Leu130Val,ENST00000279227,NM_178443.2;FERMT3,missense_variant,p.Leu130Val,ENST00000345728,NM_031471.5;FERMT3,missense_variant,p.Leu130Val,ENST00000544997,;FERMT3,5_prime_UTR_variant,,ENST00000541252,;FERMT3,upstream_gene_variant,,ENST00000541326,;FERMT3,upstream_gene_variant,,ENST00000546255,;	G	ENST00000279227	Transcript	missense_variant	483/2489	388/2004	130/667	L/V	Ctc/Gtc		1		1	FERMT3	HGNC	HGNC:23151	protein_coding	YES	CCDS8060.1	ENSP00000279227	Q86UX7		UPI000019270B	NM_178443.2	tolerated(0.28)		3/15		hmmpanther:PTHR16160,hmmpanther:PTHR16160:SF1,SMART_domains:SM00295																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	72	64210838	64210838	C	G	1	0	0	0	0	1	0	0	0	5682	681	24	4		4	FERMT3	11	64210838	Missense_Mutation	SNP	C	C3N-01072_TP	58701856	64210838	70875784	44	23398											
KCNE3	0	.	GRCh38	chr11	74457556	74457556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctccgttccattggtaGtctccatagcaacagggatt	9	12	10	10	1	2	0	0	0	2	0	5	1	3	1	3	3	2	3	3	3	3	5	novel		C3N-01072_TP	C3N-01072_NB	G	G																c.8C>T	p.Thr3Ile	p.T3I	ENST00000310128	3/3	220	176	44	257	257	0	strelka-varscan-mutect	KCNE3,missense_variant,p.Thr3Ile,ENST00000310128,NM_005472.4;KCNE3,missense_variant,p.Thr3Ile,ENST00000525550,;KCNE3,missense_variant,p.Thr3Ile,ENST00000531854,;KCNE3,missense_variant,p.Thr3Ile,ENST00000532569,;KCNE3,missense_variant,p.Thr3Ile,ENST00000529425,;KCNE3,missense_variant,p.Thr3Ile,ENST00000526855,;RP11-702H23.4,intron_variant,,ENST00000533008,;RP11-702H23.6,downstream_gene_variant,,ENST00000530510,;	A	ENST00000310128	Transcript	missense_variant	428/3143	8/312	3/103	T/I	aCt/aTt		1		-1	KCNE3	HGNC	HGNC:6243	protein_coding	YES	CCDS8232.1	ENSP00000310557	Q9Y6H6	Q6IAE6	UPI000012F15C	NM_005472.4	tolerated_low_confidence(0.15)		3/3		hmmpanther:PTHR15282:SF6,hmmpanther:PTHR15282,Prints_domain:PR01606																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	72	74457556	74457556	G	A	1	0	0	0	0	1	0	0	0	7940	1029	36	3		3	KCNE3	11	74457556	Missense_Mutation	SNP	G	C3N-01072_TP	10246718	74457556	60629066	45	23399											
PANX1	0	.	GRCh38	chr11	94179720	94179725	+	In_Frame_Del	DEL	ATCATT	ATCATT	-																															gctgccgcctgctgacactcAtcattatactgttagcgtgt																								novel		C3N-01072_TP	C3N-01072_NB	ATCATT	ATCATT																c.666_671delCATTAT	p.Ile223_Ile224del	p.I223_I224del	ENST00000227638	4/5	176	137	39	190	190	0	sindel-varindel-pindel	PANX1,inframe_deletion,p.Ile223_Ile224del,ENST00000227638,NM_015368.3;PANX1,inframe_deletion,p.Ile223_Ile224del,ENST00000436171,;	-	ENST00000227638	Transcript	inframe_deletion	1049-1054/2769	664-669/1281	222-223/426	II/-	ATCATT/-		1		1	PANX1	HGNC	HGNC:8599	protein_coding	YES	CCDS8296.1	ENSP00000227638	Q96RD7	A0A024R397	UPI000004C63F	NM_015368.3			4/5		Pfam_domain:PF00876,PROSITE_profiles:PS51013,hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF5,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	deletion	1	2		1										PASS		.	.												-	7	5	72	94179720	94179720	ATCATT	-	1	0	1	0	1	0	0	0	0	11501	217	8	0		0	PANX1	11	94179720	In_Frame_Del	DEL	ATCATT	C3N-01072_TP	19722164	94179720	40906902	46	23400											
CWF19L2	0	.	GRCh38	chr11	107441620	107441620	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaacagtcatccactcatcCctctgttaaaaaaaaagaca	17	9	3	12	0	4	1	3	0	1	1	6	1	6	1	2	0	1	1	2	0	6	1	novel		C3N-01072_TP	C3N-01072_NB	C	C																c.453G>C	p.Arg151Ser	p.R151S	ENST00000282251	5/18	95	79	16	78	78	0	strelka-varscan-mutect	CWF19L2,missense_variant,p.Arg151Ser,ENST00000282251,NM_152434.2;CWF19L2,missense_variant,p.Arg32Ser,ENST00000431778,;CWF19L2,missense_variant,p.Arg32Ser,ENST00000532251,;	G	ENST00000282251	Transcript	missense_variant,splice_region_variant	481/3278	453/2685	151/894	R/S	agG/agC		1		-1	CWF19L2	HGNC	HGNC:26508	protein_coding	YES	CCDS8336.2	ENSP00000282251	Q2TBE0		UPI00005A81B4	NM_152434.2	deleterious(0)		5/18		hmmpanther:PTHR12072,hmmpanther:PTHR12072:SF5																	MODERATE	1	SNV	1			1										PASS		rs777663682	.												G	3	3	72	107441620	107441620	C	G	1	0	0	0	0	1	0	0	0	3882	637	22	4		4	CWF19L2	11	107441620	Missense_Mutation	SNP	C	C3N-01072_TP	13261900	107441620	27645002	47	23401											
VWF	0	.	GRCh38	chr12	6019621	6019621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtagaaatcgtgcaacGgcggttccgagatgtcctcc	9	9	12	11	4	0	2	0	0	0	2	4	3	3	2	3	2	3	4	3	2	3	2	rs61749370		C3N-01072_TP	C3N-01072_NB	G	G																c.3797C>A	p.Pro1266Gln	p.P1266Q	ENST00000261405	28/52	188	176	12	130	130	0	varscan-mutect	VWF,missense_variant,p.Pro1266Gln,ENST00000261405,NM_000552.3;VWF,non_coding_transcript_exon_variant,,ENST00000539641,;VWF,intron_variant,,ENST00000538635,;	T	ENST00000261405	Transcript	missense_variant	4052/8838	3797/8442	1266/2813	P/Q	cCg/cAg	rs61749370,CM090294,CM930727,VWF_c.3797C>A,VWF_c.3797C>T,COSM3968366	1		-1	VWF	HGNC	HGNC:12726	protein_coding	YES	CCDS8539.1	ENSP00000261405	P04275		UPI00001AE7EE	NM_000552.3	deleterious(0.01)		28/52		PIRSF_domain:PIRSF002495,Pfam_domain:PF16164										not_provided,pathogenic	0,0,0,0,0,1						MODERATE	1	SNV	1		1,1,1,0,0,1	1										PASS		rs61749370	.												T	3	4	72	6019621	6019621	G	T	1	0	0	0	0	1	0	0	0	17806	1116	39	1		1	VWF	12	6019621	Missense_Mutation	SNP	G	C3N-01072_TP		6019621	127255688	48	23402											
PLCZ1	0	.	GRCh38	chr12	18712900	18712900	+	Frame_Shift_Del	DEL	A	A	-																															taaacagaagtttgcttgtgAgtgtgtagccatgatataca																								novel		C3N-01072_TP	C3N-01072_NB	A	A																c.656delT	p.Leu219ProfsTer20	p.L219Pfs*20	ENST00000266505	6/15	329	261	68	310	310	0	sindel-varindel-pindel	PLCZ1,frameshift_variant,p.Leu219ProfsTer20,ENST00000266505,NM_033123.3;PLCZ1,frameshift_variant,p.Leu4ProfsTer22,ENST00000540421,;PLCZ1,5_prime_UTR_variant,,ENST00000538330,;PLCZ1,intron_variant,,ENST00000539875,;PLCZ1,intron_variant,,ENST00000543242,;PLCZ1,intron_variant,,ENST00000539072,;RP11-361I14.2,upstream_gene_variant,,ENST00000536931,;PLCZ1,non_coding_transcript_exon_variant,,ENST00000542762,;PLCZ1,non_coding_transcript_exon_variant,,ENST00000545129,;PLCZ1,frameshift_variant,p.Leu91ProfsTer20,ENST00000540270,;PLCZ1,3_prime_UTR_variant,,ENST00000318197,;PLCZ1,3_prime_UTR_variant,,ENST00000539207,;PLCZ1,downstream_gene_variant,,ENST00000535429,;	-	ENST00000266505	Transcript	frameshift_variant	920/2148	656/1827	219/608	L/X	cTc/cc		1		-1	PLCZ1	HGNC	HGNC:19218	protein_coding	YES	CCDS8680.1	ENSP00000266505	Q86YW0	A0A140VJR9	UPI000000D7E3	NM_033123.3			6/15		PROSITE_profiles:PS50007,hmmpanther:PTHR10336:SF29,hmmpanther:PTHR10336,Gene3D:3.20.20.190,Pfam_domain:PF00388,SMART_domains:SM00148,Superfamily_domains:SSF51695																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	72	18712900	18712900	A	-	1	0	1	0	1	0	0	0	0	12138	304	11	0		0	PLCZ1	12	18712900	Frame_Shift_Del	DEL	A	C3N-01072_TP	12693279	18712900	114562409	49	23403											
LRRK2	0	.	GRCh38	chr12	40257253	40257253	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaaaaaatctcagttaatTtcagaaaaatactgttatca	18	15	3	5	0	3	1	3	0	1	1	4	1	3	1	0	0	1	2	0	0	8	6	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.1294T>C	p.Phe432Leu	p.F432L	ENST00000298910	12/51	191	160	31	198	198	0	strelka-mutect	LRRK2,missense_variant,p.Phe432Leu,ENST00000298910,NM_198578.3;LRRK2,missense_variant,p.Phe432Leu,ENST00000343742,;LRRK2,intron_variant,,ENST00000416796,;	C	ENST00000298910	Transcript	missense_variant	1352/9158	1294/7584	432/2527	F/L	Ttc/Ctc		1		1	LRRK2	HGNC	HGNC:18618	protein_coding	YES	CCDS31774.1	ENSP00000298910	Q5S007		UPI00006C128E	NM_198578.3	tolerated(0.59)		12/51		Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	72	40257253	40257253	T	C	1	0	0	0	0	1	0	0	0	8939	1855	64	5		5	LRRK2	12	40257253	Missense_Mutation	SNP	T	C3N-01072_TP	21544353	40257253	93018056	50	23404											
LRP1	0	.	GRCh38	chr12	57173796	57173796	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagctcggtgcatcagcaaAgcgtgggtgtgtgatggcga	8	9	16	8	3	2	1	2	1	0	0	3	2	2	1	0	3	4	3	0	3	1	0	novel		C3N-01072_TP	C3N-01072_NB	A	A																c.3363A>G	p.=	p.K1121K	ENST00000243077	22/89	278	221	57	284	284	0	strelka-varscan-mutect	LRP1,synonymous_variant,p.=,ENST00000243077,NM_002332.2;LRP1,downstream_gene_variant,,ENST00000553446,;	G	ENST00000243077	Transcript	synonymous_variant	3829/14897	3363/13635	1121/4544	K	aaA/aaG		1		1	LRP1	HGNC	HGNC:6692	protein_coding	YES	CCDS8932.1	ENSP00000243077	Q07954		UPI00001B044F	NM_002332.2			22/89		Gene3D:1n7dA02,Pfam_domain:PF00057,Prints_domain:PR00261,PROSITE_patterns:PS01209,PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,SMART_domains:SM00192,Superfamily_domains:SSF57424																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	72	57173796	57173796	A	G	1	0	0	0	0	0	0	0	1	8846	69	3	5		5	LRP1	12	57173796	Silent	SNP	A	C3N-01072_TP	16916543	57173796	76101513	51	23405											
TSFM	0	.	GRCh38	chr12	57796504	57796504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaccttggggcagtatgTgcagcctcagggggtgtcgg	6	10	16	9	1	1	0	1	0	0	0	2	0	1	0	2	5	3	3	2	5	2	3	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.962T>C	p.Val321Ala	p.V321A	ENST00000323833	7/7	29	18	11	32	32	0	strelka-varscan-mutect	TSFM,missense_variant,p.Val300Ala,ENST00000454289,NM_005726.5;TSFM,missense_variant,p.Val321Ala,ENST00000323833,NM_001172696.1;TSFM,3_prime_UTR_variant,,ENST00000540550,NM_001172695.1;TSFM,intron_variant,,ENST00000550559,;TSFM,intron_variant,,ENST00000548851,;TSFM,intron_variant,,ENST00000543727,NM_001172697.1;AVIL,downstream_gene_variant,,ENST00000257861,NM_006576.3;TSFM,downstream_gene_variant,,ENST00000457189,;TSFM,downstream_gene_variant,,ENST00000434359,;TSFM,downstream_gene_variant,,ENST00000497617,;AVIL,downstream_gene_variant,,ENST00000549851,;AVIL,downstream_gene_variant,,ENST00000546952,;AVIL,downstream_gene_variant,,ENST00000551248,;	C	ENST00000323833	Transcript	missense_variant	988/1218	962/1041	321/346	V/A	gTg/gCg		1		1	TSFM	HGNC	HGNC:12367	protein_coding	YES	CCDS53809.1	ENSP00000313877	P43897		UPI000002A8C3	NM_001172696.1	deleterious(0.01)		7/7		Gene3D:3.30.479.20,HAMAP:MF_00050,hmmpanther:PTHR11741,Superfamily_domains:SSF54713																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	72	57796504	57796504	T	C	1	0	0	0	0	1	0	0	0	17121	1696	59	5		5	TSFM	12	57796504	Missense_Mutation	SNP	T	C3N-01072_TP	622708	57796504	75478805	52	23406											
FRS2	0	.	GRCh38	chr12	69574240	69574240	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagagaaactggagcaacTtggaagagatcaagttagtg	18	7	12	4	0	1	2	1	0	0	2	1	6	1	4	0	2	3	2	0	2	7	2	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.812T>G	p.Leu271Arg	p.L271R	ENST00000550389	7/7	362	287	75	321	321	0	strelka-varscan-mutect	FRS2,missense_variant,p.Leu271Arg,ENST00000550389,NM_001278357.1;FRS2,missense_variant,p.Leu271Arg,ENST00000397997,;FRS2,missense_variant,p.Leu271Arg,ENST00000549921,NM_001278354.1,NM_001278356.1,NM_001278355.1,NM_001278351.1,NM_006654.4,NM_001042555.2,NM_001278353.1;FRS2,downstream_gene_variant,,ENST00000550937,;FRS2,downstream_gene_variant,,ENST00000551325,;FRS2,downstream_gene_variant,,ENST00000547219,;FRS2,downstream_gene_variant,,ENST00000548154,;FRS2,downstream_gene_variant,,ENST00000549092,;FRS2,downstream_gene_variant,,ENST00000547414,;	G	ENST00000550389	Transcript	missense_variant	1058/6600	812/1527	271/508	L/R	cTt/cGt		1		1	FRS2	HGNC	HGNC:16971	protein_coding	YES	CCDS41809.1	ENSP00000447241	Q8WU20	L7RTG7	UPI000003F143	NM_001278357.1	tolerated(0.41)		7/7		hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF40																	MODERATE	1	SNV	1			1										PASS		rs943493754	.												G	3	3	72	69574240	69574240	T	G	1	0	0	0	0	1	0	0	0	5933	1609	56	5		5	FRS2	12	69574240	Missense_Mutation	SNP	T	C3N-01072_TP	11777736	69574240	63701069	53	23407											
TMTC2	0	.	GRCh38	chr12	83050948	83050948	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcatagaagcagctgagAtggcaaaaaaagcagctgaa	17	6	11	7	0	1	3	1	2	1	2	2	4	1	3	0	1	4	5	0	1	6	1	novel		C3N-01072_TP	C3N-01072_NB	A	A																c.2197A>G	p.Met733Val	p.M733V	ENST00000321196	10/12	185	148	37	176	176	0	strelka-varscan-mutect	TMTC2,missense_variant,p.Met727Val,ENST00000549919,;TMTC2,missense_variant,p.Met733Val,ENST00000321196,NM_152588.1;TMTC2,3_prime_UTR_variant,,ENST00000546590,NM_001320321.1;	G	ENST00000321196	Transcript	missense_variant	2904/5681	2197/2511	733/836	M/V	Atg/Gtg		1		1	TMTC2	HGNC	HGNC:25440	protein_coding	YES	CCDS9025.1	ENSP00000322300	Q8N394		UPI0000073F0F	NM_152588.1	tolerated(0.11)		10/12		Low_complexity_(Seg):seg,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF390,Gene3D:1.25.40.10,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		rs1217850064	.												G	3	3	72	83050948	83050948	A	G	1	0	0	0	0	1	0	0	0	16735	333	12	5		5	TMTC2	12	83050948	Missense_Mutation	SNP	A	C3N-01072_TP	13476708	83050948	50224361	54	23408											
ACACB	0	.	GRCh38	chr12	109172283	109172283	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgtttgcaggcggtgtgGgctggctggggccatgcttc	2	12	18	9	1	0	0	0	0	0	0	1	0	0	0	1	6	2	5	1	6	0	2	novel		C3N-01072_TP	C3N-01072_NB	G	G																c.1044G>A	p.Trp348Ter	p.W348*	ENST00000338432	6/53	118	102	16	130	130	0	strelka-varscan-mutect	ACACB,stop_gained,p.Trp348Ter,ENST00000338432,;ACACB,stop_gained,p.Trp348Ter,ENST00000377848,NM_001093.3;ACACB,stop_gained,p.Trp146Ter,ENST00000544726,;ACACB,5_prime_UTR_variant,,ENST00000377854,;ACACB,upstream_gene_variant,,ENST00000543080,;	A	ENST00000338432	Transcript	stop_gained	1163/9360	1044/7377	348/2458	W/*	tgG/tgA		1		1	ACACB	HGNC	HGNC:85	protein_coding	YES	CCDS31898.1	ENSP00000341044	O00763		UPI0000DBEEFB				6/53		PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF94,hmmpanther:PTHR18866,Pfam_domain:PF00289,Gene3D:3.40.50.20,Superfamily_domains:SSF52440																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	72	109172283	109172283	G	A	1	0	0	0	0	0	1	0	0	150	1241	43	3		3	ACACB	12	109172283	Nonsense_Mutation	SNP	G	C3N-01072_TP	26121335	109172283	24103026	55	23409											
C12orf49	0	.	GRCh38	chr12	116720319	116720319	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgggctgcaggcagcaggAgacacagtactcataggcgc	10	6	15	10	1	1	1	1	0	0	1	1	2	1	1	0	4	3	6	0	4	2	3	novel		C3N-01072_TP	C3N-01072_NB	A	A																c.397T>A	p.Ser133Thr	p.S133T	ENST00000261318	3/5	143	123	20	96	96	0	strelka-varscan-mutect	C12orf49,missense_variant,p.Ser133Thr,ENST00000261318,NM_024738.2;C12orf49,intron_variant,,ENST00000547606,;C12orf49,upstream_gene_variant,,ENST00000548356,;C12orf49,3_prime_UTR_variant,,ENST00000547630,;	T	ENST00000261318	Transcript	missense_variant	558/8404	397/618	133/205	S/T	Tcc/Acc		1		-1	C12orf49	HGNC	HGNC:26128	protein_coding	YES	CCDS9179.1	ENSP00000261318	Q9H741	A0A024RBQ8	UPI000004A078	NM_024738.2	deleterious(0)		3/5		Pfam_domain:PF10218,hmmpanther:PTHR13481																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	72	116720319	116720319	A	T	1	0	0	0	0	1	0	0	0	1813	304	11	4		4	C12orf49	12	116720319	Missense_Mutation	SNP	A	C3N-01072_TP	7548036	116720319	16554990	56	23410											
DCLK1	0	.	GRCh38	chr13	35774657	35774657	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcacatcctggttgcGtcttcgtcggaaaacctgcc	6	11	9	15	3	2	0	1	0	1	0	6	1	4	1	4	2	3	2	4	2	2	2			C3N-01072_TP	C3N-01072_NB	G	G																c.2175C>T	p.=	p.D725D	ENST00000255448	18/18	205	173	32	177	177	0	strelka-varscan-mutect	DCLK1,missense_variant,p.Arg701Cys,ENST00000360631,;DCLK1,missense_variant,p.Arg394Cys,ENST00000379893,NM_001195416.1;DCLK1,synonymous_variant,p.=,ENST00000615680,NM_001195415.1;DCLK1,synonymous_variant,p.=,ENST00000255448,NM_004734.4;	A	ENST00000255448	Transcript	synonymous_variant	2387/5703	2175/2190	725/729	D	gaC/gaT	COSM1249804,COSM1249805,COSM1249806	1		-1	DCLK1	HGNC	HGNC:2700	protein_coding	YES	CCDS9354.1	ENSP00000255448	O15075		UPI000002A7C2	NM_004734.4			18/18													1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												A	2	1	72	35774657	35774657	G	A	1	0	0	0	0	0	0	0	1	4093	1145	40	1		1	DCLK1	13	35774657	Silent	SNP	G	C3N-01072_TP		35774657	78589671	57	23411											
CTSG	0	.	GRCh38	chr14	24573781	24573781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgatgccgtgggccacattGttacacagcagggggcctcc	8	7	13	13	2	0	0	0	0	0	0	1	1	1	0	4	3	3	2	4	3	1	2	rs763445044		C3N-01072_TP	C3N-01072_NB	G	G																c.624C>A	p.Asn208Lys	p.N208K	ENST00000216336	5/5	137	114	23	142	142	0	strelka-varscan-mutect	CTSG,missense_variant,p.Asn208Lys,ENST00000216336,NM_001911.2;CTSG,non_coding_transcript_exon_variant,,ENST00000552252,;	T	ENST00000216336	Transcript	missense_variant	661/886	624/768	208/255	N/K	aaC/aaA	rs763445044	1		-1	CTSG	HGNC	HGNC:2532	protein_coding	YES	CCDS9631.1	ENSP00000216336	P08311		UPI00001270AC	NM_001911.2	tolerated(0.58)		5/5		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF13,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs763445044	.												T	3	4	72	24573781	24573781	G	T	1	0	0	0	0	1	0	0	0	3844	1368	48	2		2	CTSG	14	24573781	Missense_Mutation	SNP	G	C3N-01072_TP		24573781	82469937	58	23412											
GALNT16	0	.	GRCh38	chr14	69333104	69333104	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggttcgactggagcctgcaTttcaagtgggagcagatccc	8	9	14	10	1	1	1	1	0	0	1	3	4	2	3	2	3	3	3	2	3	1	2	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.798T>G	p.His266Gln	p.H266Q	ENST00000337827	8/16	216	163	53	276	276	0	strelka-varscan-mutect	GALNT16,missense_variant,p.His266Gln,ENST00000337827,NM_001168368.1,NM_020692.2;GALNT16,missense_variant,p.His266Gln,ENST00000448469,;GALNT16,missense_variant,p.His266Gln,ENST00000553669,;GALNT16,non_coding_transcript_exon_variant,,ENST00000556677,;GALNT16,missense_variant,p.His266Gln,ENST00000553471,;	G	ENST00000337827	Transcript	missense_variant	1125/5708	798/1677	266/558	H/Q	caT/caG		1		1	GALNT16	HGNC	HGNC:23233	protein_coding	YES	CCDS32107.1	ENSP00000336729	Q8N428	Q68VJ8	UPI000004D296	NM_001168368.1,NM_020692.2	tolerated(0.14)		8/16		hmmpanther:PTHR11675:SF3,hmmpanther:PTHR11675,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	72	69333104	69333104	T	G	1	0	0	0	0	1	0	0	0	6082	1490	52	5		5	GALNT16	14	69333104	Missense_Mutation	SNP	T	C3N-01072_TP	44759323	69333104	37710614	59	23413											
AQR	0	.	GRCh38	chr15	34915096	34915096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgaatttcataagttgattCtaagcggaagaggttaaagt	15	12	10	4	2	2	2	1	1	1	1	2	4	2	3	0	2	1	2	0	2	6	6	novel		C3N-01072_TP	C3N-01072_NB	C	C																c.1426G>A	p.Glu476Lys	p.E476K	ENST00000156471	16/35	150	128	22	166	166	0	strelka-varscan-mutect	AQR,missense_variant,p.Glu476Lys,ENST00000156471,NM_014691.2;AQR,missense_variant,p.Glu476Lys,ENST00000543879,;	T	ENST00000156471	Transcript	missense_variant	1652/9694	1426/4458	476/1485	E/K	Gaa/Aaa		1		-1	AQR	HGNC	HGNC:29513	protein_coding	YES	CCDS42013.1	ENSP00000156471	O60306	A0A024R9L1	UPI00001C1F85	NM_014691.2	deleterious(0)		16/35		hmmpanther:PTHR10887:SF5,hmmpanther:PTHR10887,Pfam_domain:PF16399,PIRSF_domain:PIRSF038901																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	72	34915096	34915096	C	T	1	0	0	0	0	1	0	0	0	957	922	32	3		3	AQR	15	34915096	Missense_Mutation	SNP	C	C3N-01072_TP		34915096	67076093	60	23414											
MGA	0	.	GRCh38	chr15	41754568	41754568	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacagtcattcaaacagccGtaagtcttatttctctttgg	11	14	6	10	1	4	0	2	0	2	0	5	0	4	0	1	1	2	1	1	1	3	5			C3N-01072_TP	C3N-01072_NB	G	G																c.7139+1G>T		p.X2380_splice	ENST00000219905		71	54	17	66	66	0	strelka-varscan-mutect	MGA,splice_donor_variant,,ENST00000566586,;MGA,splice_donor_variant,,ENST00000219905,NM_001164273.1;MGA,splice_donor_variant,,ENST00000570161,;MGA,splice_donor_variant,,ENST00000545763,NM_001080541.2;MGA,splice_donor_variant,,ENST00000564190,;MGA,downstream_gene_variant,,ENST00000566288,;	T	ENST00000219905	Transcript	splice_donor_variant	-/12042	7139/9198	2380/3065			COSM961530	1		1	MGA	HGNC	HGNC:14010	protein_coding	YES	CCDS55959.1	ENSP00000219905	Q8IWI9		UPI0001B2337E	NM_001164273.1				18/23												1						HIGH	1	SNV	5		1	1										PASS		.	.												T	5	4	72	41754568	41754568	G	T	1	0	0	0	0	0	0	1	0	9498	1159	40	1		1	MGA	15	41754568	Splice_Site	SNP	G	C3N-01072_TP	6839472	41754568	60236621	61	23415											
PLA2G4F	0	.	GRCh38	chr15	42142680	42142680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctagggaaggggattcctCggtccaggcagtacttctct	7	11	13	10	1	1	0	0	0	1	0	5	2	3	2	2	5	2	3	2	5	3	4	rs375597223		C3N-01072_TP	C3N-01072_NB	C	C																c.2177G>T	p.Arg726Leu	p.R726L	ENST00000397272	19/20	413	350	63	405	405	0	strelka-varscan-mutect	PLA2G4F,missense_variant,p.Arg726Leu,ENST00000397272,NM_213600.3;PLA2G4F,synonymous_variant,p.=,ENST00000562320,;PLA2G4F,3_prime_UTR_variant,,ENST00000569985,;PLA2G4F,3_prime_UTR_variant,,ENST00000290497,;PLA2G4F,downstream_gene_variant,,ENST00000561893,;	A	ENST00000397272	Transcript	missense_variant	2264/5587	2177/2550	726/849	R/L	cGa/cTa	rs375597223	1		-1	PLA2G4F	HGNC	HGNC:27396	protein_coding	YES	CCDS32204.1	ENSP00000380442	Q68DD2		UPI0000160965	NM_213600.3	deleterious(0.03)		19/20		Gene3D:3.40.1090.10,PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF22,SMART_domains:SM00022,Superfamily_domains:SSF52151																	MODERATE	1	SNV	1			1										PASS		rs375597223	.												A	3	1	72	42142680	42142680	C	A	1	0	0	0	0	1	0	0	0	12102	884	31	1		1	PLA2G4F	15	42142680	Missense_Mutation	SNP	C	C3N-01072_TP	388112	42142680	59848509	62	23416											
ZNF668	0	.	GRCh38	chr16	31062041	31062041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggcgcgctggtggcgaCggaagctcgaggggtcggag	6	5	21	9	6	0	0	0	0	0	0	2	4	0	2	0	7	1	2	0	7	1	0	novel		C3N-01072_TP	C3N-01072_NB	C	C																c.956G>A	p.Arg319His	p.R319H	ENST00000539836	4/4	305	248	57	219	219	0	strelka-varscan-mutect	ZNF668,missense_variant,p.Arg296His,ENST00000538906,NM_001172668.1;ZNF668,missense_variant,p.Arg296His,ENST00000300849,NM_024706.4;ZNF668,missense_variant,p.Arg296His,ENST00000394983,;ZNF668,missense_variant,p.Arg319His,ENST00000539836,NM_001172669.1;ZNF668,missense_variant,p.Arg296His,ENST00000535577,NM_001172670.1;ZNF668,missense_variant,p.Arg319His,ENST00000426488,;ZNF668,downstream_gene_variant,,ENST00000442862,;ZNF668,downstream_gene_variant,,ENST00000414399,;ZNF668,downstream_gene_variant,,ENST00000417935,;RP11-196G11.6,non_coding_transcript_exon_variant,,ENST00000622229,;RP11-196G11.6,non_coding_transcript_exon_variant,,ENST00000417110,;AC135050.5,upstream_gene_variant,,ENST00000568708,;ZNF668,downstream_gene_variant,,ENST00000564456,;	T	ENST00000539836	Transcript	missense_variant	1279/2469	956/1929	319/642	R/H	cGt/cAt		1		-1	ZNF668	HGNC	HGNC:25821	protein_coding	YES	CCDS54003.1	ENSP00000442573	Q96K58		UPI0001C53D29	NM_001172669.1	deleterious(0.03)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF353,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13894,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	72	31062041	31062041	C	T	1	0	0	0	0	1	0	0	0	18649	536	19	1		1	ZNF668	16	31062041	Missense_Mutation	SNP	C	C3N-01072_TP		31062041	59276304	63	23417											
ATPAF2	0	.	GRCh38	chr17	18028279	18028279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctgctgggaatcccactCagtagccactgcaatggcca	10	8	9	14	0	1	0	1	0	0	0	3	1	3	1	4	2	3	3	4	2	3	1	novel		C3N-01072_TP	C3N-01072_NB	C	C																c.277G>A	p.Glu93Lys	p.E93K	ENST00000474627	3/8	277	201	76	367	367	0	strelka-varscan-mutect	ATPAF2,missense_variant,p.Glu93Lys,ENST00000474627,NM_145691.3;ATPAF2,missense_variant,p.Glu93Lys,ENST00000444058,;ATPAF2,intron_variant,,ENST00000585101,;ATPAF2,upstream_gene_variant,,ENST00000581698,;ATPAF2,non_coding_transcript_exon_variant,,ENST00000577586,;RP11-384M20.1,upstream_gene_variant,,ENST00000624345,;ATPAF2,upstream_gene_variant,,ENST00000469327,;ATPAF2,non_coding_transcript_exon_variant,,ENST00000497871,;ATPAF2,intron_variant,,ENST00000462733,;ATPAF2,intron_variant,,ENST00000584205,;ATPAF2,upstream_gene_variant,,ENST00000496852,;ATPAF2,upstream_gene_variant,,ENST00000488753,;	T	ENST00000474627	Transcript	missense_variant	432/1564	277/870	93/289	E/K	Gag/Aag		1		-1	ATPAF2	HGNC	HGNC:18802	protein_coding	YES	CCDS32585.1	ENSP00000417190	Q8N5M1		UPI00000720DC	NM_145691.3	deleterious(0)		3/8		hmmpanther:PTHR21013,Gene3D:2r6iA01,Pfam_domain:PF07542,Superfamily_domains:SSF160909																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	72	18028279	18028279	C	T	1	0	0	0	0	1	0	0	0	1354	835	29	3		3	ATPAF2	17	18028279	Missense_Mutation	SNP	C	C3N-01072_TP		18028279	65229162	64	23418											
SOST	0	.	GRCh38	chr17	43755570	43755570	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgcgctgcgcgcggtaGcggtcggggatgcagcggaa	6	5	19	11	8	0	0	0	0	0	0	1	2	0	2	0	5	5	4	0	5	2	1	novel		C3N-01072_TP	C3N-01072_NB	G	G																c.414C>T	p.=	p.R138R	ENST00000301691	2/2	200	151	49	238	238	0	strelka-varscan-mutect	SOST,synonymous_variant,p.=,ENST00000301691,NM_025237.2;	A	ENST00000301691	Transcript	synonymous_variant	461/2300	414/642	138/213	R	cgC/cgT		1		-1	SOST	HGNC	HGNC:13771	protein_coding	YES	CCDS11468.1	ENSP00000301691	Q9BQB4		UPI0000035BBE	NM_025237.2			2/2		Pfam_domain:PF05463,hmmpanther:PTHR14903,hmmpanther:PTHR14903:SF4,SMART_domains:SM00041																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	72	43755570	43755570	G	A	1	0	0	0	0	0	0	0	1	15260	958	34	3		3	SOST	17	43755570	Silent	SNP	G	C3N-01072_TP	25727291	43755570	39501871	65	23419											
OR4D2	0	.	GRCh38	chr17	58170444	58170444	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctatgcccggcccttcacTccattccctatggacaagct	7	11	6	17	1	2	0	1	0	1	0	4	1	4	1	4	2	2	1	4	2	3	4	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.789T>C	p.=	p.T263T	ENST00000545221	1/1	645	521	124	667	666	1	strelka-varscan-mutect	OR4D2,synonymous_variant,p.=,ENST00000545221,NM_001004707.3;	C	ENST00000545221	Transcript	synonymous_variant	789/924	789/924	263/307	T	acT/acC		1		1	OR4D2	HGNC	HGNC:8294	protein_coding	YES	CCDS32688.1	ENSP00000441354	P58180	A0A126GWK0	UPI0000000DB3	NM_001004707.3			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF348,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												C	2	2	72	58170444	58170444	T	C	1	0	0	0	0	0	0	0	1	11133	1538	54	5		5	OR4D2	17	58170444	Silent	SNP	T	C3N-01072_TP	14414874	58170444	25086997	66	23420											
RGS9	0	.	GRCh38	chr17	65160878	65160878	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggccaagcgaaatatcaAaaagaaagggattttggaag	17	8	11	5	1	2	1	1	0	1	1	2	4	2	3	1	3	1	0	1	3	7	3			C3N-01072_TP	C3N-01072_NB	A	A																c.392A>C	p.Lys131Thr	p.K131T	ENST00000262406	6/19	407	313	94	434	434	0	strelka-varscan-mutect	RGS9,missense_variant,p.Lys131Thr,ENST00000449996,NM_001081955.2;RGS9,missense_variant,p.Lys131Thr,ENST00000262406,NM_003835.3;RGS9,missense_variant,p.Lys131Thr,ENST00000635833,;RGS9,missense_variant,p.Lys131Thr,ENST00000443584,NM_001165933.1;RGS9,non_coding_transcript_exon_variant,,ENST00000577186,;RGS9,missense_variant,p.Lys131Thr,ENST00000584234,;RGS9,non_coding_transcript_exon_variant,,ENST00000581175,;RGS9,downstream_gene_variant,,ENST00000583473,;	C	ENST00000262406	Transcript	missense_variant	459/2375	392/2025	131/674	K/T	aAa/aCa	COSM1680011	1		1	RGS9	HGNC	HGNC:10004	protein_coding	YES	CCDS42373.1	ENSP00000262406	O75916		UPI000013382A	NM_003835.3	deleterious(0)		6/19		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF170											1						MODERATE	1	SNV	1		1	1										PASS		rs1399438731	.												C	3	2	72	65160878	65160878	A	C	1	0	0	0	0	1	0	0	0	13484	14	1	5		5	RGS9	17	65160878	Missense_Mutation	SNP	A	C3N-01072_TP	6990434	65160878	18096563	67	23421											
PTPRM	0	.	GRCh38	chr18	8244108	8244108	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcacccgacaggagaTgactgtgatggtgaactcaa	13	6	13	9	1	1	4	1	3	0	1	1	7	1	4	1	2	3	2	1	2	2	0	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.2351T>A	p.Met784Lys	p.M784K	ENST00000580170	15/33	193	129	64	184	184	0	strelka-varscan-mutect	PTPRM,missense_variant,p.Met784Lys,ENST00000332175,NM_002845.3;PTPRM,missense_variant,p.Met784Lys,ENST00000580170,NM_001105244.1;PTPRM,missense_variant,p.Met722Lys,ENST00000400053,;PTPRM,missense_variant,p.Met137Lys,ENST00000577468,;PTPRM,5_prime_UTR_variant,,ENST00000400060,;PTPRM,non_coding_transcript_exon_variant,,ENST00000578093,;PTPRM,upstream_gene_variant,,ENST00000580838,;PTPRM,non_coding_transcript_exon_variant,,ENST00000577827,;	A	ENST00000580170	Transcript	missense_variant	3388/5941	2351/4398	784/1465	M/K	aTg/aAg		1		1	PTPRM	HGNC	HGNC:9675	protein_coding	YES	CCDS58613.1	ENSP00000463325	P28827		UPI00015CFC03	NM_001105244.1	tolerated(0.69)		15/33		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	72	8244108	8244108	T	A	1	0	0	0	0	1	0	0	0	12960	1464	51	4		4	PTPRM	18	8244108	Missense_Mutation	SNP	T	C3N-01072_TP		8244108	72129177	68	23422											
SERPINB2	0	.	GRCh38	chr18	63902910	63902910	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttgcagctggaaagtGaaataacctatgacaaactc	14	11	8	8	0	0	2	0	2	0	0	1	3	0	3	1	1	5	3	1	1	5	4			C3N-01072_TP	C3N-01072_NB	G	G																c.853G>T	p.Glu285Ter	p.E285*	ENST00000457692	9/9	103	81	22	86	86	0	varscan-mutect	SERPINB2,stop_gained,p.Glu285Ter,ENST00000457692,NM_001143818.1;SERPINB2,stop_gained,p.Glu285Ter,ENST00000299502,NM_002575.2;SERPINB10,stop_gained,p.Glu162Ter,ENST00000397996,;SERPINB10,stop_gained,p.Glu162Ter,ENST00000418725,;SERPINB2,downstream_gene_variant,,ENST00000482254,;	T	ENST00000457692	Transcript	stop_gained	1186/2155	853/1248	285/415	E/*	Gaa/Taa	COSM24389	1		1	SERPINB2	HGNC	HGNC:8584	protein_coding	YES	CCDS11989.1	ENSP00000401645	P05120		UPI000002BB06	NM_001143818.1			9/9		Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF61,SMART_domains:SM00093,Superfamily_domains:SSF56574											1						HIGH	1	SNV	5		1	1										PASS		.	.												T	4	4	72	63902910	63902910	G	T	1	0	0	0	0	0	1	0	0	14377	1291	45	2		2	SERPINB2	18	63902910	Nonsense_Mutation	SNP	G	C3N-01072_TP	55658802	63902910	16470375	69	23423											
MUC16	0	.	GRCh38	chr19	8945536	8945536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaggaacttgataagcacTtgtcactgttcccagctcaa	12	11	8	10	0	2	2	2	2	0	0	3	3	3	3	1	1	3	3	1	1	4	4	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.31234A>G	p.Ser10412Gly	p.S10412G	ENST00000397910	3/84	102	75	27	103	103	0	strelka-varscan-mutect	MUC16,missense_variant,p.Ser10412Gly,ENST00000397910,NM_024690.2;	C	ENST00000397910	Transcript	missense_variant	31438/43816	31234/43524	10412/14507	S/G	Agt/Ggt		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	72	8945536	8945536	T	C	1	0	0	0	0	1	0	0	0	9972	1609	56	5		5	MUC16	19	8945536	Missense_Mutation	SNP	T	C3N-01072_TP		8945536	49672080	70	23424											
CYP4F2	0	.	GRCh38	chr19	15897492	15897492	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcggcagttgtcatagaaGgcgtaggtccaggccaggac	9	6	16	10	3	1	1	1	0	0	1	2	2	2	2	2	6	0	3	2	6	3	3	rs752779520		C3N-01072_TP	C3N-01072_NB	G	G																c.120C>T	p.=	p.A40A	ENST00000221700	2/13	198	141	57	240	240	0	strelka-varscan-mutect	CYP4F2,synonymous_variant,p.=,ENST00000221700,NM_001082.4;CYP4F2,synonymous_variant,p.=,ENST00000011989,;CYP4F2,synonymous_variant,p.=,ENST00000586927,;CYP4F2,synonymous_variant,p.=,ENST00000587671,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000608168,;CYP4F2,intron_variant,,ENST00000392846,;AC005336.5,downstream_gene_variant,,ENST00000593183,;	A	ENST00000221700	Transcript	synonymous_variant	216/2407	120/1563	40/520	A	gcC/gcT	rs752779520	1		-1	CYP4F2	HGNC	HGNC:2645	protein_coding	YES	CCDS12336.1	ENSP00000221700	P78329		UPI0000052BE6	NM_001082.4			2/13		hmmpanther:PTHR24291:SF45,hmmpanther:PTHR24291																	LOW	1	SNV	1			1										PASS		rs752779520	.												A	2	1	72	15897492	15897492	G	A	1	0	0	0	0	0	0	0	1	3991	987	35	3		3	CYP4F2	19	15897492	Silent	SNP	G	C3N-01072_TP	6951956	15897492	42720124	71	23425											
USHBP1	0	.	GRCh38	chr19	17259674	17259674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaagagacccaaggatcTgggtgctggaatggctgcgg	9	7	18	7	1	1	1	0	0	1	1	1	5	1	4	1	6	2	2	1	6	3	0	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.827A>G	p.Gln276Arg	p.Q276R	ENST00000252597	6/13	129	83	46	117	117	0	strelka-varscan-mutect	USHBP1,missense_variant,p.Gln276Arg,ENST00000252597,NM_031941.3;USHBP1,missense_variant,p.Gln212Arg,ENST00000431146,NM_001297703.1;USHBP1,downstream_gene_variant,,ENST00000594190,;USHBP1,downstream_gene_variant,,ENST00000598309,;AC010646.3,upstream_gene_variant,,ENST00000594059,;USHBP1,downstream_gene_variant,,ENST00000598570,;USHBP1,downstream_gene_variant,,ENST00000595993,;USHBP1,missense_variant,p.Gln276Arg,ENST00000324554,;USHBP1,3_prime_UTR_variant,,ENST00000597928,;USHBP1,downstream_gene_variant,,ENST00000600286,;USHBP1,downstream_gene_variant,,ENST00000596436,;	C	ENST00000252597	Transcript	missense_variant	1001/3335	827/2112	276/703	Q/R	cAg/cGg		1		-1	USHBP1	HGNC	HGNC:24058	protein_coding	YES	CCDS12353.1	ENSP00000252597	Q8N6Y0	A0A024R7H3	UPI000006F7A8	NM_031941.3	deleterious(0.04)		6/13		hmmpanther:PTHR23347:SF5,hmmpanther:PTHR23347																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	72	17259674	17259674	T	C	1	0	0	0	0	1	0	0	0	17571	1580	55	5		5	USHBP1	19	17259674	Missense_Mutation	SNP	T	C3N-01072_TP	1362182	17259674	41357942	72	23426											
GPI	0	.	GRCh38	chr19	34366826	34366826	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcccgggagcggatgttcaAtggtgagaagatcaactaca	12	7	13	9	3	2	2	2	1	0	2	2	5	2	4	1	3	3	1	1	3	4	2	rs370578920		C3N-01072_TP	C3N-01072_NB	A	A																c.374A>G	p.Asn125Ser	p.N125S	ENST00000415930	4/18	229	150	79	268	268	0	strelka-varscan-mutect	GPI,missense_variant,p.Asn125Ser,ENST00000415930,NM_001184722.1;GPI,missense_variant,p.Asn86Ser,ENST00000356487,NM_000175.3,NM_001289790.1;GPI,missense_variant,p.Asn101Ser,ENST00000588991,NM_001289789.1;GPI,missense_variant,p.Asn86Ser,ENST00000586425,;GPI,missense_variant,p.Asn125Ser,ENST00000587384,;GPI,missense_variant,p.Asn125Ser,ENST00000592277,;GPI,missense_variant,p.Asn86Ser,ENST00000589640,;GPI,missense_variant,p.Asn86Ser,ENST00000589399,;GPI,missense_variant,p.Asn86Ser,ENST00000591204,;GPI,missense_variant,p.Asn86Ser,ENST00000590375,;GPI,downstream_gene_variant,,ENST00000587521,;GPI,3_prime_UTR_variant,,ENST00000592144,;GPI,non_coding_transcript_exon_variant,,ENST00000589504,;	G	ENST00000415930	Transcript	missense_variant	544/4000	374/1710	125/569	N/S	aAt/aGt	rs370578920,COSM288550	1		1	GPI	HGNC	HGNC:4458	protein_coding	YES	CCDS54246.1	ENSP00000405573	P06744		UPI00017A6DE4	NM_001184722.1	tolerated_low_confidence(1)		4/18		Gene3D:3.40.50.10490,HAMAP:MF_00473,Pfam_domain:PF00342,PROSITE_profiles:PS51463,hmmpanther:PTHR11469,hmmpanther:PTHR11469:SF4,Superfamily_domains:SSF53697											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs370578920	.												G	3	3	72	34366826	34366826	A	G	1	0	0	0	0	1	0	0	0	6513	101	4	5		5	GPI	19	34366826	Missense_Mutation	SNP	A	C3N-01072_TP	17107152	34366826	24250790	73	23427											
RYR1	0	.	GRCh38	chr19	38543848	38543848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggattcctgcacgtgttCgcccacatgatgatgaagct	8	11	12	10	2	0	3	0	3	0	0	2	4	1	4	2	1	2	3	2	1	1	2	rs536629932		C3N-01072_TP	C3N-01072_NB	C	C																c.11985C>A	p.Phe3995Leu	p.F3995L	ENST00000359596	87/106	576	324	252	638	638	0	strelka-varscan-mutect	RYR1,missense_variant,p.Phe3990Leu,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Phe3995Leu,ENST00000359596,NM_000540.2;RYR1,3_prime_UTR_variant,,ENST00000594335,;RYR1,3_prime_UTR_variant,,ENST00000593322,;	A	ENST00000359596	Transcript	missense_variant	11985/15117	11985/15117	3995/5038	F/L	ttC/ttA	rs536629932,COSM1645559	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2	deleterious(0.01)		87/106		hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs536629932	.												A	3	1	72	38543848	38543848	C	A	1	0	0	0	0	1	0	0	0	14028	883	31	1		1	RYR1	19	38543848	Missense_Mutation	SNP	C	C3N-01072_TP	4177022	38543848	20073768	74	23428											
CYTH2	0	.	GRCh38	chr19	48473328	48473328	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacctggcagtgctccatgcTtttgtggatctgcatgagtt	7	14	11	9	0	1	1	0	1	1	0	2	2	2	2	2	2	4	5	2	2	1	3	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.384T>C	p.=	p.A128A	ENST00000452733	5/12	311	207	104	327	327	0	strelka-varscan-mutect	CYTH2,synonymous_variant,p.=,ENST00000452733,NM_004228.6;CYTH2,synonymous_variant,p.=,ENST00000427476,NM_017457.5;CYTH2,synonymous_variant,p.=,ENST00000325139,;CYTH2,synonymous_variant,p.=,ENST00000595765,;CYTH2,upstream_gene_variant,,ENST00000620214,;CTC-273B12.7,downstream_gene_variant,,ENST00000595676,;CTC-273B12.5,upstream_gene_variant,,ENST00000600650,;CTC-273B12.5,upstream_gene_variant,,ENST00000593476,;CTC-273B12.5,upstream_gene_variant,,ENST00000596497,;CYTH2,synonymous_variant,p.=,ENST00000391881,;CYTH2,non_coding_transcript_exon_variant,,ENST00000493260,;CYTH2,non_coding_transcript_exon_variant,,ENST00000467412,;CYTH2,non_coding_transcript_exon_variant,,ENST00000460595,;CYTH2,non_coding_transcript_exon_variant,,ENST00000474209,;CYTH2,downstream_gene_variant,,ENST00000474049,;CYTH2,downstream_gene_variant,,ENST00000462117,;	C	ENST00000452733	Transcript	synonymous_variant	860/4780	384/1200	128/399	A	gcT/gcC		1		1	CYTH2	HGNC	HGNC:9502	protein_coding	YES	CCDS12722.1	ENSP00000408236	Q99418		UPI000000009E	NM_004228.6			5/12		PROSITE_profiles:PS50190,hmmpanther:PTHR10663,Gene3D:1.10.220.20,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	72	48473328	48473328	T	C	1	0	0	0	0	0	0	0	1	4009	1596	56	5		5	CYTH2	19	48473328	Silent	SNP	T	C3N-01072_TP	9929480	48473328	10144288	75	23429											
SNX5	0	.	GRCh38	chr20	17954000	17954000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggaaaatccacttacgcttCcagttcttgtttcatcttgg	9	15	7	10	1	3	0	1	0	2	0	5	1	5	1	2	2	1	3	2	2	3	6	novel		C3N-01072_TP	C3N-01072_NB	C	C																c.385G>A	p.Glu129Lys	p.E129K	ENST00000377768	5/14	165	133	32	175	175	0	strelka-varscan-mutect	SNX5,missense_variant,p.Glu129Lys,ENST00000377768,NM_152227.2,NM_001282454.1;SNX5,missense_variant,p.Glu129Lys,ENST00000377759,NM_014426.3;SNX5,missense_variant,p.Glu92Lys,ENST00000431277,;SNX5,missense_variant,p.Glu94Lys,ENST00000419004,;SNX5,upstream_gene_variant,,ENST00000463050,;SNX5,non_coding_transcript_exon_variant,,ENST00000483485,;SNX5,non_coding_transcript_exon_variant,,ENST00000490175,;SNX5,non_coding_transcript_exon_variant,,ENST00000476648,;SNX5,non_coding_transcript_exon_variant,,ENST00000475716,;SNX5,non_coding_transcript_exon_variant,,ENST00000474883,;SNX5,non_coding_transcript_exon_variant,,ENST00000494401,;SNX5,downstream_gene_variant,,ENST00000469704,;OVOL2,downstream_gene_variant,,ENST00000486776,;	T	ENST00000377768	Transcript	missense_variant	698/2288	385/1215	129/404	E/K	Gaa/Aaa		1		-1	SNX5	HGNC	HGNC:14969	protein_coding	YES	CCDS13130.1	ENSP00000366998	Q9Y5X3		UPI0000135B43	NM_152227.2,NM_001282454.1	deleterious(0)		5/14		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PIRSF_domain:PIRSF036924,PROSITE_profiles:PS50195,Superfamily_domains:SSF64268																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	72	17954000	17954000	C	T	1	0	0	0	0	1	0	0	0	15226	869	30	3		3	SNX5	20	17954000	Missense_Mutation	SNP	C	C3N-01072_TP		17954000	46490167	76	23430											
ZNF335	0	.	GRCh38	chr20	45960509	45960509	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgaaggtgtagcgcttcTtaaaggactttccacactgt	9	15	9	8	1	1	1	0	1	1	0	2	2	2	2	1	2	1	2	1	2	4	6	novel		C3N-01072_TP	C3N-01072_NB	T	T																c.1799A>C	p.Lys600Thr	p.K600T	ENST00000322927	13/28	376	295	81	389	389	0	strelka-varscan-mutect	ZNF335,missense_variant,p.Lys600Thr,ENST00000322927,NM_022095.3;ZNF335,downstream_gene_variant,,ENST00000475002,;	G	ENST00000322927	Transcript	missense_variant	1900/4430	1799/4029	600/1342	K/T	aAg/aCg		1		-1	ZNF335	HGNC	HGNC:15807	protein_coding	YES	CCDS13389.1	ENSP00000325326	Q9H4Z2		UPI0000001BC3	NM_022095.3	tolerated(0.07)		13/28		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF36,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	72	45960509	45960509	T	G	1	0	0	0	0	1	0	0	0	18424	1609	56	5		5	ZNF335	20	45960509	Missense_Mutation	SNP	T	C3N-01072_TP	28006509	45960509	18483658	77	23431											
DNAJC28	0	.	GRCh38	chr21	33488447	33488447	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtcaggatgggaacaattAaattaaaatcattaattcgc	16	12	8	5	1	2	0	2	0	0	0	3	2	2	2	0	3	1	0	0	3	7	4	novel		C3N-01072_TP	C3N-01072_NB	A	A																c.947T>G	p.Leu316Ter	p.L316*	ENST00000617313	2/3	47	43	4	80	80	0	varscan-mutect	DNAJC28,stop_gained,p.Leu316Ter,ENST00000617313,;DNAJC28,stop_gained,p.Leu316Ter,ENST00000314399,NM_017833.4;DNAJC28,stop_gained,p.Leu316Ter,ENST00000402202,;DNAJC28,stop_gained,p.Leu316Ter,ENST00000381947,NM_001040192.2;AP000302.58,upstream_gene_variant,,ENST00000450928,;	C	ENST00000617313	Transcript	stop_gained	1386/2237	947/1167	316/388	L/*	tTa/tGa		1		-1	DNAJC28	HGNC	HGNC:1297	protein_coding	YES	CCDS13626.1	ENSP00000479716	Q9NX36		UPI00001286AA				2/3		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24016,hmmpanther:PTHR24016:SF12																	HIGH		SNV	5			1										PASS		.	.												C	4	2	72	33488447	33488447	A	C	1	0	0	0	0	0	1	0	0	4459	372	13	5		5	DNAJC28	21	33488447	Nonsense_Mutation	SNP	A	C3N-01072_TP		33488447	13221536	78	23432											
KRTAP10-2	0	.	GRCh38	chr21	44550889	44550889	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatggacttgcagcagacAggcttgcagcagacggacac	12	5	13	11	1	0	3	0	0	0	3	0	5	0	5	0	3	4	5	0	3	0	2	rs76021731		C3N-01072_TP	C3N-01072_NB	A	A																c.570T>C	p.=	p.P190P	ENST00000391621	1/1	134	122	12	245	241	4	varscan-mutect	KRTAP10-2,synonymous_variant,p.=,ENST00000391621,NM_198693.3;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000397916,;KRTAP10-2,intron_variant,,ENST00000498210,;	G	ENST00000391621	Transcript	synonymous_variant	617/1149	570/768	190/255	P	ccT/ccC	rs76021731	1		-1	KRTAP10-2	HGNC	HGNC:22967	protein_coding	YES	CCDS42955.1	ENSP00000375479	P60368		UPI000021C438	NM_198693.3			1/1		Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF8,Low_complexity_(Seg):seg																	LOW		SNV				1										PASS		rs76021731	.												G	2	3	72	44550889	44550889	A	G	1	0	0	0	0	0	0	0	1	8392	175	7	5		5	KRTAP10-2	21	44550889	Silent	SNP	A	C3N-01072_TP	11062442	44550889	2159094	79	23433											
SYN3	0	.	GRCh38	chr22	32518051	32518051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagcacttacttgagatgCggatggggtggtgctggctt	8	11	15	7	1	0	1	0	1	0	1	0	3	0	2	0	5	4	3	0	5	2	3	rs771047148		C3N-01072_TP	C3N-01072_NB	C	C																c.1602G>A	p.=	p.P534P	ENST00000358763	13/14	35	30	5	24	24	0	strelka-mutect	SYN3,synonymous_variant,p.=,ENST00000358763,NM_001135774.1,NM_003490.3,NM_133633.2;SYN3,synonymous_variant,p.=,ENST00000332840,;SYN3,non_coding_transcript_exon_variant,,ENST00000467095,;SYN3,downstream_gene_variant,,ENST00000459990,;SYN3,downstream_gene_variant,,ENST00000468922,;SYN3,non_coding_transcript_exon_variant,,ENST00000483062,;SYN3,non_coding_transcript_exon_variant,,ENST00000461446,;	T	ENST00000358763	Transcript	synonymous_variant	1845/3126	1602/1743	534/580	P	ccG/ccA	rs771047148,COSM3694038	1		-1	SYN3	HGNC	HGNC:11496	protein_coding	YES	CCDS13908.1	ENSP00000351614	O14994	A0A024R1I8	UPI00001365D3	NM_001135774.1,NM_003490.3,NM_133633.2			13/14		hmmpanther:PTHR10841											0,1						LOW	1	SNV	5		0,1	1										PASS		rs771047148	.												T	2	4	72	32518051	32518051	C	T	1	0	0	0	0	0	0	0	1	15832	755	27	1		1	SYN3	22	32518051	Silent	SNP	C	C3N-01072_TP		32518051	18300417	80	23434											
KDM6A	0	.	GRCh38	chrX	44974664	44974664	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcataattattttcctttcAgcattatctgcataccagag	11	16	4	10	0	3	1	2	0	1	1	4	1	4	1	2	0	3	2	2	0	4	7	novel		C3N-01072_TP	C3N-01072_NB	A	A																c.335-2A>G		p.X112_splice	ENST00000377967		124	81	43	127	127	0	strelka-varscan-mutect	KDM6A,splice_acceptor_variant,,ENST00000611820,NM_001291415.1;KDM6A,splice_acceptor_variant,,ENST00000382899,NM_001291416.1;KDM6A,splice_acceptor_variant,,ENST00000543216,;KDM6A,splice_acceptor_variant,,ENST00000536777,NM_001291417.1,NM_001291418.1;KDM6A,splice_acceptor_variant,,ENST00000377967,NM_021140.3;KDM6A,splice_acceptor_variant,,ENST00000621147,;KDM6A,splice_acceptor_variant,,ENST00000475233,;	G	ENST00000377967	Transcript	splice_acceptor_variant	-/5438	335/4206	112/1401				1		1	KDM6A	HGNC	HGNC:12637	protein_coding	YES	CCDS14265.1	ENSP00000367203	O15550		UPI000013DA92	NM_021140.3				3/28																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	72	44974664	44974664	A	G	1	0	0	0	0	0	0	1	0	8055	202	7	5		5	KDM6A	23	44974664	Splice_Site	SNP	A	C3N-01072_TP		44974664	111066231	81	23435											
NRK	0	.	GRCh38	chrX	105945962	105945962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaaaatacaggcagctgatCcagtgaaccggtttaagaga	16	7	10	8	1	0	3	0	2	0	1	1	4	1	3	2	2	3	3	2	2	5	3	rs754007962		C3N-01072_TP	C3N-01072_NB	C	C																c.4150C>T	p.Pro1384Ser	p.P1384S	ENST00000243300	25/29	136	87	49	144	144	0	strelka-varscan-mutect	NRK,missense_variant,p.Pro1384Ser,ENST00000243300,NM_198465.3;NRK,upstream_gene_variant,,ENST00000540278,;	T	ENST00000243300	Transcript	missense_variant	4453/8062	4150/4749	1384/1582	P/S	Cca/Tca	rs754007962,COSM3556282	1		1	NRK	HGNC	HGNC:25391	protein_coding	YES	CCDS65305.1	ENSP00000434830	Q7Z2Y5		UPI0000418886	NM_198465.3	deleterious(0.03)		25/29		PROSITE_profiles:PS50219,Pfam_domain:PF00780,SMART_domains:SM00036											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs754007962	.												T	3	4	72	105945962	105945962	C	T	1	0	0	0	0	1	0	0	0	10713	855	30	3		3	NRK	23	105945962	Missense_Mutation	SNP	C	C3N-01072_TP	60971298	105945962	50094933	82	23436											
FRMPD3	0	.	GRCh38	chrX	107603250	107603250	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcaacaacaacaGcagcagcagcagcagcaggt	16	1	11	13	0	0	0	0	0	0	0	0	0	0	0	0	1	12	9	0	1	3	0			C3N-01072_TP	C3N-01072_NB	G	G																c.5310G>A	p.=	p.Q1770Q	ENST00000276185	16/16	121	114	7	114	113	1	varscan-mutect	FRMPD3,synonymous_variant,p.=,ENST00000276185,NM_032428.1;FRMPD3,synonymous_variant,p.=,ENST00000439554,;	A	ENST00000276185	Transcript	synonymous_variant	5310/7304	5310/5433	1770/1810	Q	caG/caA	COSM4407925,COSM4407926	1		1	FRMPD3	HGNC	HGNC:29382	protein_coding	YES	CCDS76006.1	ENSP00000276185	Q5JV73		UPI00006C1C33	NM_032428.1			16/16		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil											1,1						LOW	1	SNV	5		1,1	1										PASS		rs1405680572	.												A	2	1	72	107603250	107603250	G	A	1	0	0	0	0	0	0	0	1	5929	962	34	3		3	FRMPD3	23	107603250	Silent	SNP	G	C3N-01072_TP	1657288	107603250	48437645	83	23437											
GNB1	0	.	GRCh38	chr1	1815847	1815847	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggattcttcccactgggtCgatgttgtttgtgatcttga	5	18	11	7	1	2	2	0	2	2	0	4	4	3	3	1	2	0	2	1	2	0	6	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.112G>T	p.Asp38Tyr	p.D38Y	ENST00000610897	4/11	212	200	12	193	193	0	strelka-varscan-mutect	GNB1,missense_variant,p.Asp38Tyr,ENST00000610897,NM_001282539.1;GNB1,missense_variant,p.Asp38Tyr,ENST00000378609,NM_002074.4;GNB1,missense_variant,p.Asp38Tyr,ENST00000434686,;GNB1,missense_variant,p.Asp25Tyr,ENST00000439272,;GNB1,missense_variant,p.Asp38Tyr,ENST00000437146,;GNB1,intron_variant,,ENST00000615252,NM_001282538.1;GNB1,non_coding_transcript_exon_variant,,ENST00000471354,;	A	ENST00000610897	Transcript	missense_variant	456/3145	112/1023	38/340	D/Y	Gac/Tac		1		-1	GNB1	HGNC	HGNC:4396	protein_coding	YES	CCDS34.1	ENSP00000481878	P62873	A0A024R056	UPI00000230B3	NM_001282539.1	deleterious(0)		4/11		PIRSF_domain:PIRSF002394,hmmpanther:PTHR19850,hmmpanther:PTHR19850:SF32,Superfamily_domains:SSF50978																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	1815847	1815847	C	A	1	0	0	0	0	1	0	0	0	6395	884	31	1		1	GNB1	1	1815847	Missense_Mutation	SNP	C	C3N-01074_TP		1815847	247140575	1	23438											
AJAP1	0	.	GRCh38	chr1	4712042	4712042	+	Frame_Shift_Del	DEL	C	C	-																															ggctcctgccgcggtcgccgCcccggccgccccggctgtgg																								novel		C3N-01074_TP	C3N-01074_NB	C	C																c.175delC	p.Arg59GlyfsTer94	p.R59Gfs*94	ENST00000378191	2/6	113	75	38	129	129	0	sindel-varindel	AJAP1,frameshift_variant,p.Arg59GlyfsTer94,ENST00000378191,NM_018836.3;AJAP1,frameshift_variant,p.Arg59GlyfsTer94,ENST00000378190,NM_001042478.1;AJAP1,non_coding_transcript_exon_variant,,ENST00000466761,;	-	ENST00000378191	Transcript	frameshift_variant	553/11666	172/1236	58/411	P/X	Ccc/cc		1		1	AJAP1	HGNC	HGNC:30801	protein_coding	YES	CCDS54.1	ENSP00000367433	Q9UKB5		UPI00000728B8	NM_018836.3			2/6		Low_complexity_(Seg):seg,hmmpanther:PTHR32422																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	73	4712042	4712042	C	-	1	0	1	0	1	0	0	0	0	516	739	26	0		0	AJAP1	1	4712042	Frame_Shift_Del	DEL	C	C3N-01074_TP	2896195	4712042	244244380	2	23439	491	2									
AJAP1	0	.	GRCh38	chr1	4712046	4712046	+	Missense_Mutation	SNP	G	G	A																															cctgccgcggtcgccgccccGgccgccccggctgtggagtt																								novel		C3N-01074_TP	C3N-01074_NB	G	G																c.176G>A	p.Arg59Gln	p.R59Q	ENST00000378191	2/6	120	81	39	134	134	0	strelka-varscan-mutect	AJAP1,missense_variant,p.Arg59Gln,ENST00000378191,NM_018836.3;AJAP1,missense_variant,p.Arg59Gln,ENST00000378190,NM_001042478.1;AJAP1,non_coding_transcript_exon_variant,,ENST00000466761,;	A	ENST00000378191	Transcript	missense_variant	557/11666	176/1236	59/411	R/Q	cGg/cAg		1		1	AJAP1	HGNC	HGNC:30801	protein_coding	YES	CCDS54.1	ENSP00000367433	Q9UKB5		UPI00000728B8	NM_018836.3	deleterious(0.02)		2/6		Low_complexity_(Seg):seg,hmmpanther:PTHR32422																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	4712046	4712046	G	A	1	0	0	0	0	1	0	0	0	516	1116	39	1		1	AJAP1	1	4712046	Missense_Mutation	SNP	G	C3N-01074_TP	4	4712046	244244376	3	23440	491	2									
CHD5	0	.	GRCh38	chr1	6154699	6154699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccttgcggataggcacagGctggggcacctgcggggggc	5	5	20	11	2	0	0	0	0	0	0	0	1	0	1	2	9	2	3	2	9	1	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.706C>A	p.Pro236Thr	p.P236T	ENST00000262450	5/42	68	38	30	64	64	0	strelka-varscan-mutect	CHD5,missense_variant,p.Pro236Thr,ENST00000262450,NM_015557.2;CHD5,missense_variant,p.Pro236Thr,ENST00000496404,;	T	ENST00000262450	Transcript	missense_variant	806/9646	706/5865	236/1954	P/T	Cct/Act		1		-1	CHD5	HGNC	HGNC:16816	protein_coding	YES	CCDS57.1	ENSP00000262450	Q8TDI0		UPI000006CD03	NM_015557.2	deleterious_low_confidence(0.04)		5/42		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	6154699	6154699	G	T	1	0	0	0	0	1	0	0	0	3087	1203	42	2		2	CHD5	1	6154699	Missense_Mutation	SNP	G	C3N-01074_TP	1442653	6154699	242801723	4	23441											
PER3	0	.	GRCh38	chr1	7785552	7785552	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagcactctagatgccctCaactatgctctccgctgtgt	8	11	7	15	1	3	1	1	0	2	1	4	1	3	1	3	0	4	3	3	0	4	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.240C>T	p.=	p.L80L	ENST00000613533	3/22	174	129	45	168	168	0	strelka-varscan-mutect	PER3,synonymous_variant,p.=,ENST00000613533,NM_001289862.1;PER3,synonymous_variant,p.=,ENST00000377532,;PER3,synonymous_variant,p.=,ENST00000614998,NM_001289861.1,NM_001289863.1,NM_001289864.1;PER3,synonymous_variant,p.=,ENST00000361923,NM_016831.2;PER3,synonymous_variant,p.=,ENST00000377541,;VAMP3,downstream_gene_variant,,ENST00000054666,NM_004781.3;PER3,non_coding_transcript_exon_variant,,ENST00000473653,;PER3,upstream_gene_variant,,ENST00000602883,;	T	ENST00000613533	Transcript	synonymous_variant	504/6318	240/3633	80/1210	L	ctC/ctT		1		1	PER3	HGNC	HGNC:8847	protein_coding	YES	CCDS72695.1	ENSP00000482093	P56645		UPI00003664CA	NM_001289862.1			3/22		hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13																	LOW		SNV	5			1										PASS		.	.												T	2	4	73	7785552	7785552	C	T	1	0	0	0	0	0	0	0	1	11819	813	29	3		3	PER3	1	7785552	Silent	SNP	C	C3N-01074_TP	1630853	7785552	241170870	5	23442											
SLC25A33	0	.	GRCh38	chr1	9580123	9580123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagtatctgaaagaagctCcattagcctcttctgcaaat	14	11	7	9	0	3	3	0	1	3	2	4	3	4	3	2	0	3	3	2	0	6	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.652C>A	p.Pro218Thr	p.P218T	ENST00000302692	6/7	152	143	9	239	239	0	varscan-mutect	SLC25A33,missense_variant,p.Pro218Thr,ENST00000302692,NM_032315.2;RP13-15M17.1,downstream_gene_variant,,ENST00000435277,;	A	ENST00000302692	Transcript	missense_variant	862/3854	652/966	218/321	P/T	Cca/Aca		1		1	SLC25A33	HGNC	HGNC:29681	protein_coding	YES	CCDS103.1	ENSP00000306328	Q9BSK2		UPI000004D33B	NM_032315.2	tolerated(0.37)		6/7		Superfamily_domains:0048588,Gene3D:1okcA00,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF263																	MODERATE	1	SNV	1			1										PASS		rs947584270	.												A	3	1	73	9580123	9580123	C	A	1	0	0	0	0	1	0	0	0	14762	855	30	2		2	SLC25A33	1	9580123	Missense_Mutation	SNP	C	C3N-01074_TP	1794571	9580123	239376299	6	23443											
C1orf127	0	.	GRCh38	chr1	10948604	10948604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggcatctgaggacaCgggcagggtcagagccgggt	10	4	19	8	2	2	3	1	1	1	2	2	5	2	5	1	6	1	2	1	6	0	0	rs765001510		C3N-01074_TP	C3N-01074_NB	C	C																c.1531G>T	p.Val511Leu	p.V511L	ENST00000377004	12/13	142	88	54	131	131	0	strelka-varscan-mutect	C1orf127,missense_variant,p.Val511Leu,ENST00000377004,NM_001170754.1;C1orf127,missense_variant,p.Val463Leu,ENST00000520253,;C1orf127,missense_variant,p.Val346Leu,ENST00000418570,;C1orf127,upstream_gene_variant,,ENST00000468348,;C1orf127,non_coding_transcript_exon_variant,,ENST00000476357,;	A	ENST00000377004	Transcript	missense_variant	1531/2761	1531/2472	511/823	V/L	Gtg/Ttg	rs765001510	1		-1	C1orf127	HGNC	HGNC:26730	protein_coding	YES	CCDS53267.1	ENSP00000366203		G8JLG8	UPI0001C0B385	NM_001170754.1	tolerated(1)		12/13		hmmpanther:PTHR38653																	MODERATE	1	SNV	5			1										PASS		rs765001510	.												A	3	1	73	10948604	10948604	C	A	1	0	0	0	0	1	0	0	0	1964	536	19	1		1	C1orf127	1	10948604	Missense_Mutation	SNP	C	C3N-01074_TP	1368481	10948604	238007818	7	23444											
SH2D5	0	.	GRCh38	chr1	20724222	20724222	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttccccaggcgggcatggcgGgcacggccttccgactctgg	4	7	15	15	4	1	0	0	0	1	0	3	1	3	0	4	6	0	2	4	6	0	2	rs766444839		C3N-01074_TP	C3N-01074_NB	G	G																c.660C>A	p.=	p.A220A	ENST00000444387	7/10	165	88	77	140	138	2	strelka-varscan	SH2D5,synonymous_variant,p.=,ENST00000375031,NM_001103160.1;SH2D5,synonymous_variant,p.=,ENST00000444387,NM_001103161.1;SH2D5,downstream_gene_variant,,ENST00000517430,;SH2D5,downstream_gene_variant,,ENST00000447746,;SH2D5,downstream_gene_variant,,ENST00000519434,;SH2D5,downstream_gene_variant,,ENST00000518294,;SH2D5,non_coding_transcript_exon_variant,,ENST00000460804,;	T	ENST00000444387	Transcript	synonymous_variant	1058/1934	660/1272	220/423	A	gcC/gcA	rs766444839	1		-1	SH2D5	HGNC	HGNC:28819	protein_coding	YES	CCDS44080.1	ENSP00000406026	Q6ZV89		UPI0000EE70C3	NM_001103161.1			7/10																			LOW	1	SNV	2			1										PASS		.	.												T	2	4	73	20724222	20724222	G	T	1	0	0	0	0	0	0	0	1	14495	1219	43	2		2	SH2D5	1	20724222	Silent	SNP	G	C3N-01074_TP	9775618	20724222	228232200	8	23445											
EPHA8	0	.	GRCh38	chr1	22601627	22601627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagcacccttccttcacagGgacgtgcgcgccctgggcat	6	7	12	16	3	1	0	1	0	0	0	2	1	2	1	3	2	2	3	3	2	0	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.2904G>T	p.Gln968His	p.Q968H	ENST00000166244	17/17	344	323	21	402	402	0	strelka-mutect	EPHA8,missense_variant,p.Gln968His,ENST00000166244,NM_020526.3;	T	ENST00000166244	Transcript	missense_variant,splice_region_variant	2976/4943	2904/3018	968/1005	Q/H	caG/caT		1		1	EPHA8	HGNC	HGNC:3391	protein_coding	YES	CCDS225.1	ENSP00000166244	P29322		UPI000012A07B	NM_020526.3	deleterious(0.02)		17/17		PROSITE_profiles:PS50105,hmmpanther:PTHR24416:SF339,hmmpanther:PTHR24416,Pfam_domain:PF00536,Gene3D:1.10.150.50,PIRSF_domain:PIRSF000666,SMART_domains:SM00454,Superfamily_domains:SSF47769																	MODERATE	1	SNV	2			1										PASS		rs1422425621	.												T	3	4	73	22601627	22601627	G	T	1	0	0	0	0	1	0	0	0	5020	1246	43	2		2	EPHA8	1	22601627	Missense_Mutation	SNP	G	C3N-01074_TP	1877405	22601627	226354795	9	23446											
DLGAP3	0	.	GRCh38	chr1	34867109	34867109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtagctccaggaacttgaggGtcacatcctcgatggagagc	10	8	13	10	1	1	2	1	1	0	1	4	5	3	3	2	3	3	2	2	3	2	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.2660C>A	p.Thr887Asn	p.T887N	ENST00000373347	11/12	462	246	216	444	442	2	strelka-varscan-mutect	DLGAP3,missense_variant,p.Thr887Asn,ENST00000373347,NM_001080418.2;DLGAP3,missense_variant,p.Thr887Asn,ENST00000235180,;	T	ENST00000373347	Transcript	missense_variant	2929/3856	2660/2940	887/979	T/N	aCc/aAc		1		-1	DLGAP3	HGNC	HGNC:30368	protein_coding	YES	CCDS30670.1	ENSP00000362444	O95886		UPI00003D4D81	NM_001080418.2	deleterious(0.02)		11/12		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF4,Pfam_domain:PF03359																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	73	34867109	34867109	G	T	1	0	0	0	0	1	0	0	0	4368	1261	44	2		2	DLGAP3	1	34867109	Missense_Mutation	SNP	G	C3N-01074_TP	12265482	34867109	214089313	10	23447											
GJA9	0	.	GRCh38	chr1	38875433	38875433	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaatgtttaagaaaagTgaaatagtggctatagattg	17	12	10	2	0	1	4	1	1	0	3	1	4	1	4	0	1	0	2	0	1	9	6	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.666A>T	p.=	p.S222S	ENST00000360786	1/1	224	106	118	345	344	1	strelka-varscan-mutect	GJA9,synonymous_variant,p.=,ENST00000360786,;GJA9,synonymous_variant,p.=,ENST00000357771,NM_030772.4;RP5-864K19.6,intron_variant,,ENST00000621281,;MYCBP,upstream_gene_variant,,ENST00000397572,NM_012333.4;MYCBP,upstream_gene_variant,,ENST00000494695,;RP5-864K19.4,intron_variant,,ENST00000433671,;RP5-864K19.4,intron_variant,,ENST00000456813,;RP5-864K19.4,intron_variant,,ENST00000443161,;RP5-864K19.6,intron_variant,,ENST00000489575,;RP5-864K19.7,upstream_gene_variant,,ENST00000622355,;MYCBP,upstream_gene_variant,,ENST00000495043,;MYCBP,upstream_gene_variant,,ENST00000465771,;RP5-864K19.6,synonymous_variant,p.=,ENST00000454994,;RP5-864K19.6,non_coding_transcript_exon_variant,,ENST00000489803,;	A	ENST00000360786	Transcript	synonymous_variant	919/1901	666/1548	222/515	S	tcA/tcT		1		-1	GJA9	HGNC	HGNC:19155	protein_coding	YES	CCDS432.1	ENSP00000354020	P57773		UPI000006E09A				1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR11984:SF60,hmmpanther:PTHR11984,Gene3D:2zw3A00,Pfam_domain:PF00029,SMART_domains:SM01089,Prints_domain:PR00206																	LOW		SNV				1										PASS		.	.												A	2	1	73	38875433	38875433	T	A	1	0	0	0	0	0	0	0	1	6285	1683	59	4		4	GJA9	1	38875433	Silent	SNP	T	C3N-01074_TP	4008324	38875433	210080989	11	23448											
KCNQ4	0	.	GRCh38	chr1	40784276	40784276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgcccctccctgggccGggctccggctcgggctccgc	0	5	16	20	6	0	0	0	0	0	0	4	0	3	0	6	5	0	3	6	5	0	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.183G>A	p.=	p.P61P	ENST00000347132	1/14	205	107	98	217	217	0	strelka-varscan-mutect	KCNQ4,synonymous_variant,p.=,ENST00000347132,NM_004700.3;KCNQ4,synonymous_variant,p.=,ENST00000509682,NM_172163.2;	A	ENST00000347132	Transcript	synonymous_variant	265/4099	183/2088	61/695	P	ccG/ccA		1		1	KCNQ4	HGNC	HGNC:6298	protein_coding	YES	CCDS456.1	ENSP00000262916	P56696		UPI000013D35B	NM_004700.3			1/14		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs921904898	.												A	2	1	73	40784276	40784276	G	A	1	0	0	0	0	0	0	0	1	8001	1103	39	1		1	KCNQ4	1	40784276	Silent	SNP	G	C3N-01074_TP	1908843	40784276	208172146	12	23449											
SLC1A7	0	.	GRCh38	chr1	53114955	53114955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcttggcatccagggaGgcaagtccggacatcaagct	10	7	14	10	1	2	0	1	0	1	0	4	3	4	2	2	5	1	3	2	5	2	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.234C>T	p.=	p.A78A	ENST00000620347	3/11	238	134	104	194	194	0	strelka-varscan-mutect	SLC1A7,synonymous_variant,p.=,ENST00000620288,;SLC1A7,synonymous_variant,p.=,ENST00000620347,NM_001287595.1;SLC1A7,synonymous_variant,p.=,ENST00000371494,NM_006671.5;SLC1A7,synonymous_variant,p.=,ENST00000371491,NM_001287596.1;SLC1A7,intron_variant,,ENST00000611397,NM_001287597.1;RP11-334A14.8,non_coding_transcript_exon_variant,,ENST00000439621,;	A	ENST00000620347	Transcript	synonymous_variant	417/2873	234/1860	78/619	A	gcC/gcT		1		-1	SLC1A7	HGNC	HGNC:10945	protein_coding	YES	CCDS72797.1	ENSP00000478639		A0A087WUF9	UPI000387D8A4	NM_001287595.1			3/11		Transmembrane_helices:TMhelix,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF22,Gene3D:2nwlC00,Pfam_domain:PF00375,Superfamily_domains:0053221,Prints_domain:PR00173																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	73	53114955	53114955	G	A	1	0	0	0	0	0	0	0	1	14703	987	35	3		3	SLC1A7	1	53114955	Silent	SNP	G	C3N-01074_TP	12330679	53114955	195841467	13	23450											
ZRANB2	0	.	GRCh38	chr1	71065080	71065080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaattttaatacattatttCttttttgaacttgaacggga	13	19	5	4	1	1	2	0	2	1	0	1	3	1	3	0	1	3	0	0	1	7	10			C3N-01074_TP	C3N-01074_NB	C	C																c.987G>C	p.Lys329Asn	p.K329N	ENST00000370920	10/10	136	73	63	157	157	0	strelka-varscan-mutect	ZRANB2,missense_variant,p.Lys329Asn,ENST00000370920,NM_203350.2;ZRANB2,3_prime_UTR_variant,,ENST00000254821,NM_005455.4;ZRANB2,downstream_gene_variant,,ENST00000611683,;MIR186,downstream_gene_variant,,ENST00000384988,;ZRANB2-AS1,intron_variant,,ENST00000426999,;ZRANB2-AS1,intron_variant,,ENST00000450461,;ZRANB2,non_coding_transcript_exon_variant,,ENST00000477096,;ZRANB2,non_coding_transcript_exon_variant,,ENST00000487510,;ZRANB2,non_coding_transcript_exon_variant,,ENST00000479947,;ZRANB2,downstream_gene_variant,,ENST00000473260,;	G	ENST00000370920	Transcript	missense_variant	1289/3078	987/993	329/330	K/N	aaG/aaC	COSM1344207	1		-1	ZRANB2	HGNC	HGNC:13058	protein_coding	YES	CCDS659.1	ENSP00000359958	O95218		UPI000013CE63	NM_203350.2	deleterious_low_confidence(0)		10/10		Low_complexity_(Seg):seg,hmmpanther:PTHR12999,PIRSF_domain:PIRSF037956											1						MODERATE	1	SNV	1		1	1										PASS		rs998372565	.												G	3	3	73	71065080	71065080	C	G	1	0	0	0	0	1	0	0	0	18816	912	32	4		4	ZRANB2	1	71065080	Missense_Mutation	SNP	C	C3N-01074_TP	17950125	71065080	177891342	14	23451											
LRRC53	0	.	GRCh38	chr1	74471933	74471933	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtttggctgaaaatacctAggtttgctctgttttaacag	9	17	9	6	0	1	1	0	1	1	0	1	1	1	1	1	2	3	5	1	2	5	7	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.1689T>A	p.=	p.P563P	ENST00000294635	5/5	16	13	3	29	29	0	strelka-mutect	LRRC53,synonymous_variant,p.=,ENST00000294635,;TNNI3K,intron_variant,,ENST00000326637,NM_015978.2;FPGT-TNNI3K,intron_variant,,ENST00000557284,NM_001112808.2;RP4-650F12.2,downstream_gene_variant,,ENST00000442876,;RP4-650F12.2,downstream_gene_variant,,ENST00000411417,;	T	ENST00000294635	Transcript	synonymous_variant	1804/3859	1689/3744	563/1247	P	ccT/ccA		1		-1	LRRC53	HGNC	HGNC:25255	protein_coding	YES		ENSP00000294635	A6NM62		UPI000178DEDE				5/5																			LOW		SNV	5			1										PASS		.	.												T	2	4	73	74471933	74471933	A	T	1	0	0	0	0	0	0	0	1	8905	407	15	4		4	LRRC53	1	74471933	Silent	SNP	A	C3N-01074_TP	3406853	74471933	174484489	15	23452											
MSH4	0	.	GRCh38	chr1	75879005	75879005	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaccaggaatgatatcacaActtggagaaaaatatagtct	17	10	7	7	0	3	2	2	1	1	1	3	4	3	3	1	2	1	0	1	2	7	4	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.1554A>G	p.=	p.Q518Q	ENST00000263187	12/20	164	152	12	198	198	0	strelka-varscan	MSH4,synonymous_variant,p.=,ENST00000263187,NM_002440.3;	G	ENST00000263187	Transcript	synonymous_variant	1658/3266	1554/2811	518/936	Q	caA/caG		1		1	MSH4	HGNC	HGNC:7327	protein_coding	YES	CCDS670.1	ENSP00000263187	O15457		UPI000006D934	NM_002440.3			12/20		Gene3D:1.10.1420.10,Pfam_domain:PF05190,Pfam_domain:PF05192,hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF21,SMART_domains:SM00533,Superfamily_domains:SSF48334																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	73	75879005	75879005	A	G	1	0	0	0	0	0	0	0	1	9855	40	2	5		5	MSH4	1	75879005	Silent	SNP	A	C3N-01074_TP	1407072	75879005	173077417	16	23453											
AK5	0	.	GRCh38	chr1	77340396	77340396	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgtacccccgatttggTggtattcctggcttgtgcta	5	15	11	10	1	1	0	0	0	1	0	2	2	2	0	3	3	2	4	3	3	3	6	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.719T>A	p.Val240Glu	p.V240E	ENST00000354567	6/14	121	110	11	154	154	0	strelka-varscan-mutect	AK5,missense_variant,p.Val214Glu,ENST00000344720,NM_012093.3;AK5,missense_variant,p.Val240Glu,ENST00000354567,NM_174858.2;AK5,non_coding_transcript_exon_variant,,ENST00000524494,;AK5,upstream_gene_variant,,ENST00000465146,;	A	ENST00000354567	Transcript	missense_variant	982/3251	719/1689	240/562	V/E	gTg/gAg		1		1	AK5	HGNC	HGNC:365	protein_coding	YES	CCDS675.1	ENSP00000346577	Q9Y6K8		UPI0000167E20	NM_174858.2	deleterious(0)		6/14		HAMAP:MF_00235,hmmpanther:PTHR23359:SF79,hmmpanther:PTHR23359,Pfam_domain:PF00406,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	77340396	77340396	T	A	1	0	0	0	0	1	0	0	0	522	1696	59	4		4	AK5	1	77340396	Missense_Mutation	SNP	T	C3N-01074_TP	1461391	77340396	171616026	17	23454											
PTGFR	0	.	GRCh38	chr1	78536555	78536555	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtccttaagaatctctaTaagcttgccagtcaatgctg	10	13	8	10	0	2	1	1	0	1	1	4	1	3	1	2	0	3	3	2	0	5	4	rs773200902		C3N-01074_TP	C3N-01074_NB	T	T																c.948T>A	p.Tyr316Ter	p.Y316*	ENST00000370757	3/3	420	396	24	414	414	0	strelka-varscan-mutect	PTGFR,stop_gained,p.Tyr316Ter,ENST00000370757,NM_000959.3;PTGFR,stop_gained,p.Tyr316Ter,ENST00000370758,;PTGFR,3_prime_UTR_variant,,ENST00000370756,NM_001039585.1;PTGFR,3_prime_UTR_variant,,ENST00000497923,;	A	ENST00000370757	Transcript	stop_gained	1185/4379	948/1080	316/359	Y/*	taT/taA	rs773200902	1		1	PTGFR	HGNC	HGNC:9600	protein_coding	YES	CCDS686.1	ENSP00000359793	P43088		UPI0000001C40	NM_000959.3			3/3		Gene3D:1.20.1070.10,Prints_domain:PR00855,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF4,Superfamily_domains:SSF81321																	HIGH	1	SNV	1			1										PASS		rs773200902	.												A	4	1	73	78536555	78536555	T	A	1	0	0	0	0	0	1	0	0	12905	1413	49	4		4	PTGFR	1	78536555	Nonsense_Mutation	SNP	T	C3N-01074_TP	1196159	78536555	170419867	18	23455											
CTBS	0	.	GRCh38	chr1	84563399	84563399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccccggaaagggacttttGcaatggtacaaacatgatcc	12	8	9	12	1	0	1	0	1	0	0	1	3	1	3	4	3	3	2	4	3	4	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.815C>T	p.Ala272Val	p.A272V	ENST00000370630	6/7	92	77	15	128	128	0	strelka-varscan-mutect	CTBS,missense_variant,p.Ala272Val,ENST00000370630,NM_004388.2;CTBS,non_coding_transcript_exon_variant,,ENST00000477677,;SPATA1,intron_variant,,ENST00000460286,;CTBS,3_prime_UTR_variant,,ENST00000465118,;CTBS,3_prime_UTR_variant,,ENST00000370625,;	A	ENST00000370630	Transcript	missense_variant	864/6600	815/1158	272/385	A/V	gCa/gTa		1		-1	CTBS	HGNC	HGNC:2496	protein_coding	YES	CCDS698.1	ENSP00000359664	Q01459		UPI00001293CB	NM_004388.2	tolerated(0.14)		6/7		hmmpanther:PTHR11177:SF150,hmmpanther:PTHR11177,Gene3D:3.20.20.80,Pfam_domain:PF00704,SMART_domains:SM00636																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	84563399	84563399	G	A	1	0	0	0	0	1	0	0	0	3805	1319	46	3		3	CTBS	1	84563399	Missense_Mutation	SNP	G	C3N-01074_TP	6026844	84563399	164393023	19	23456											
OLFM3	0	.	GRCh38	chr1	101804611	101804611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcatacacagcccacagcCcgatttcatcagccattagg	11	9	7	14	1	2	0	2	0	0	0	2	1	2	0	3	1	5	1	3	1	2	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1064G>T	p.Gly355Val	p.G355V	ENST00000338858	6/6	175	164	11	255	254	1	strelka-varscan-mutect	OLFM3,missense_variant,p.Gly335Val,ENST00000370103,NM_058170.3;OLFM3,missense_variant,p.Gly355Val,ENST00000338858,NM_001288821.1;OLFM3,3_prime_UTR_variant,,ENST00000536598,;OLFM3,non_coding_transcript_exon_variant,,ENST00000462354,;OLFM3,non_coding_transcript_exon_variant,,ENST00000465523,;	A	ENST00000338858	Transcript	missense_variant	1064/2189	1064/1437	355/478	G/V	gGg/gTg		1		-1	OLFM3	HGNC	HGNC:17990	protein_coding	YES	CCDS72832.1	ENSP00000345192	Q96PB7	Q6IMJ0	UPI000004C626	NM_001288821.1	deleterious(0)		6/6		Pfam_domain:PF02191,PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF36,SMART_domains:SM00284																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	101804611	101804611	C	A	1	0	0	0	0	1	0	0	0	10929	623	22	2		2	OLFM3	1	101804611	Missense_Mutation	SNP	C	C3N-01074_TP	17241212	101804611	147151811	20	23457											
GPR89B	0	.	GRCh38	chr1	147928574	147928574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccagcatcatgattacctCccaggtgagtcaccgcctcc	8	9	7	17	1	2	2	2	2	0	0	5	2	5	2	6	1	2	1	6	1	1	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.38C>T	p.Ser13Phe	p.S13F	ENST00000314163	1/14	324	267	57	262	262	0	strelka-varscan-mutect	GPR89B,missense_variant,p.Ser13Phe,ENST00000314163,NM_016334.3;GPR89B,missense_variant,p.Ser13Phe,ENST00000468618,;GPR89B,missense_variant,p.Ser13Phe,ENST00000488165,;GPR89B,non_coding_transcript_exon_variant,,ENST00000478307,;	T	ENST00000314163	Transcript	missense_variant	182/1934	38/1368	13/455	S/F	tCc/tTc		1		1	GPR89B	HGNC	HGNC:13840	protein_coding	YES	CCDS930.1	ENSP00000358233	P0CG08	X5D7G6	UPI00000389CC	NM_016334.3	deleterious(0)		1/14		Transmembrane_helices:TMhelix,hmmpanther:PTHR15948																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	147928574	147928574	C	T	1	0	0	0	0	1	0	0	0	6600	869	30	3		3	GPR89B	1	147928574	Missense_Mutation	SNP	C	C3N-01074_TP	46123963	147928574	101027848	21	23458											
CGN	0	.	GRCh38	chr1	151532435	151532435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggactctaagcaagccCtgcagcagctccaggcccag	10	4	13	14	0	1	0	0	0	1	0	2	2	2	2	3	3	5	4	3	3	2	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2605C>A	p.Leu869Met	p.L869M	ENST00000271636	14/21	77	54	23	82	82	0	strelka-mutect	CGN,missense_variant,p.Leu869Met,ENST00000271636,NM_020770.2;SNORA44,upstream_gene_variant,,ENST00000517031,;CGN,upstream_gene_variant,,ENST00000473377,;CGN,upstream_gene_variant,,ENST00000467998,;CGN,downstream_gene_variant,,ENST00000464886,;	A	ENST00000271636	Transcript	missense_variant	2738/5091	2605/3612	869/1203	L/M	Ctg/Atg		1		1	CGN	HGNC	HGNC:17429	protein_coding	YES	CCDS999.1	ENSP00000271636	Q9P2M7		UPI0000161C1E	NM_020770.2	tolerated(0.09)		14/21		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF474,Pfam_domain:PF01576																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	151532435	151532435	C	A	1	0	0	0	0	1	0	0	0	3061	680	24	2		2	CGN	1	151532435	Missense_Mutation	SNP	C	C3N-01074_TP	3603861	151532435	97423987	22	23459											
FLG	0	.	GRCh38	chr1	152309536	152309536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcttcctccagtgctggGccctgtgcgtccatgggcgg	2	12	14	13	2	1	0	0	0	1	0	4	0	4	0	4	3	2	1	4	3	0	2	rs753760290		C3N-01074_TP	C3N-01074_NB	G	G																c.5350C>A	p.Pro1784Thr	p.P1784T	ENST00000368799	3/3	585	525	60	564	564	0	strelka-varscan-mutect	FLG,missense_variant,p.Pro1784Thr,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	T	ENST00000368799	Transcript	missense_variant	5386/12747	5350/12186	1784/4061	P/T	Ccc/Acc	rs753760290	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	tolerated(0.91)		3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571																	MODERATE	1	SNV	1			1										PASS		rs753760290	.												T	3	4	73	152309536	152309536	G	T	1	0	0	0	0	1	0	0	0	5784	1203	42	2		2	FLG	1	152309536	Missense_Mutation	SNP	G	C3N-01074_TP	777101	152309536	96646886	23	23460											
FLG	0	.	GRCh38	chr1	152310752	152310752	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtctctgactgcagatgaAgcttgtctgtgcccaatgcc	7	12	10	12	0	2	3	0	2	2	1	3	3	2	3	2	0	4	2	2	0	2	1			C3N-01074_TP	C3N-01074_NB	A	A																c.4134T>A	p.=	p.A1378A	ENST00000368799	3/3	698	613	85	688	688	0	strelka-varscan-mutect	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	T	ENST00000368799	Transcript	synonymous_variant	4170/12747	4134/12186	1378/4061	A	gcT/gcA	COSM5433556	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1			3/3		Pfam_domain:PF03516											1						LOW	1	SNV	1		1	1										PASS		rs1175659353	.												T	2	4	73	152310752	152310752	A	T	1	0	0	0	0	0	0	0	1	5784	59	3	4		4	FLG	1	152310752	Silent	SNP	A	C3N-01074_TP	1216	152310752	96645670	24	23461											
FLG2	0	.	GRCh38	chr1	152355666	152355666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaacttgacccatgttgaCcatagccagatgattgactt	11	12	8	10	0	0	6	0	5	0	1	0	6	0	6	3	0	2	1	3	0	2	5	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2120G>T	p.Gly707Val	p.G707V	ENST00000388718	3/3	635	527	108	650	648	2	strelka-varscan-mutect	FLG2,missense_variant,p.Gly707Val,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,;	A	ENST00000388718	Transcript	missense_variant	2193/9124	2120/7176	707/2391	G/V	gGt/gTt		1		-1	FLG2	HGNC	HGNC:33276	protein_coding	YES	CCDS30861.1	ENSP00000373370	Q5D862		UPI00004E1DE5	NM_001014342.2	deleterious_low_confidence(0)		3/3		Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	73	152355666	152355666	C	A	1	0	0	0	0	1	0	0	0	5785	507	18	2		2	FLG2	1	152355666	Missense_Mutation	SNP	C	C3N-01074_TP	44914	152355666	96600756	25	23462											
KPRP	0	.	GRCh38	chr1	152760463	152760463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccctctgaaggtttccCtaactactgcaccccacccc	10	8	5	18	0	1	2	0	1	1	1	2	2	2	2	6	1	3	2	6	1	4	3	rs770961240		C3N-01074_TP	C3N-01074_NB	C	C																c.875C>A	p.Pro292His	p.P292H	ENST00000606109	1/1	195	138	57	187	187	0	strelka-varscan-mutect	KPRP,missense_variant,p.Pro292His,ENST00000606109,NM_001025231.1;	A	ENST00000606109	Transcript	missense_variant	903/2492	875/1740	292/579	P/H	cCt/cAt	rs770961240	1		1	KPRP	HGNC	HGNC:31823	protein_coding	YES	CCDS30862.1	ENSP00000475216	Q5T749		UPI0000199942	NM_001025231.1	tolerated(0.55)		1/1		hmmpanther:PTHR12241:SF98,hmmpanther:PTHR12241																	MODERATE	1	SNV				1										PASS		rs770961240	.												A	3	1	73	152760463	152760463	C	A	1	0	0	0	0	1	0	0	0	8316	681	24	2		2	KPRP	1	152760463	Missense_Mutation	SNP	C	C3N-01074_TP	404797	152760463	96195959	26	23463											
LELP1	0	.	GRCh38	chr1	153204925	153204925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcatcctgccctccccagcCctgcaccaagccctgtcctc	5	9	5	22	0	1	0	1	0	0	0	5	0	4	0	8	0	4	1	8	0	1	1	rs748074067		C3N-01074_TP	C3N-01074_NB	C	C																c.218C>A	p.Pro73His	p.P73H	ENST00000368747	2/2	385	269	116	334	334	0	strelka-varscan-mutect	LELP1,missense_variant,p.Pro73His,ENST00000368747,NM_001010857.2;	A	ENST00000368747	Transcript	missense_variant	328/523	218/297	73/98	P/H	cCc/cAc	rs748074067,COSM3474375	1		1	LELP1	HGNC	HGNC:32046	protein_coding	YES	CCDS30869.1	ENSP00000357736	Q5T871		UPI000015D3CE	NM_001010857.2	deleterious_low_confidence(0.01)		2/2		Pfam_domain:PF15042,Prints_domain:PR00021,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF11,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs748074067	.												A	3	1	73	153204925	153204925	C	A	1	0	0	0	0	1	0	0	0	8626	623	22	2		2	LELP1	1	153204925	Missense_Mutation	SNP	C	C3N-01074_TP	444462	153204925	95751497	27	23464											
DENND4B	0	.	GRCh38	chr1	153933857	153933857	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccccggggttccaggacccCcaaggcctctatcactgcag	7	7	10	17	1	2	0	1	0	1	0	4	1	4	1	6	4	1	2	6	4	2	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2956G>T	p.Gly986Trp	p.G986W	ENST00000361217	20/28	429	292	137	316	316	0	strelka-varscan-mutect	DENND4B,missense_variant,p.Gly986Trp,ENST00000361217,NM_014856.2;DENND4B,missense_variant,p.Gly997Trp,ENST00000368646,;DENND4B,upstream_gene_variant,,ENST00000474386,;DENND4B,upstream_gene_variant,,ENST00000480340,;DENND4B,upstream_gene_variant,,ENST00000492898,;DENND4B,upstream_gene_variant,,ENST00000462423,;DENND4B,upstream_gene_variant,,ENST00000531748,;DENND4B,downstream_gene_variant,,ENST00000477746,;	A	ENST00000361217	Transcript	missense_variant	3375/5706	2956/4491	986/1496	G/W	Ggg/Tgg		1		-1	DENND4B	HGNC	HGNC:29044	protein_coding	YES	CCDS44228.1	ENSP00000354597	O75064		UPI000047EA3E	NM_014856.2	deleterious(0.04)		20/28		hmmpanther:PTHR12296:SF18,hmmpanther:PTHR12296																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	153933857	153933857	C	A	1	0	0	0	0	1	0	0	0	4238	623	22	2		2	DENND4B	1	153933857	Missense_Mutation	SNP	C	C3N-01074_TP	728932	153933857	95022565	28	23465											
RIT1	0	.	GRCh38	chr1	155900511	155900511	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttcctacgtatctcccgTacaagggcatggaaaacatc	11	11	7	12	2	2	0	0	0	2	0	5	1	3	1	2	2	3	3	2	2	6	4	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.588A>T	p.=	p.V196V	ENST00000368322	6/6	581	486	95	421	421	0	strelka-varscan-mutect	RIT1,synonymous_variant,p.=,ENST00000368323,NM_006912.5;RIT1,synonymous_variant,p.=,ENST00000539040,NM_001256820.1;RIT1,synonymous_variant,p.=,ENST00000368322,NM_001256821.1;RIT1,downstream_gene_variant,,ENST00000609492,;RIT1,3_prime_UTR_variant,,ENST00000461050,;	A	ENST00000368322	Transcript	synonymous_variant	618/855	588/711	196/236	V	gtA/gtT		1		-1	RIT1	HGNC	HGNC:10023	protein_coding	YES	CCDS58037.1	ENSP00000357305	Q92963		UPI0000458860	NM_001256821.1			6/6		PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF208,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449																	LOW	1	SNV	3			1										PASS		.	.												A	2	1	73	155900511	155900511	T	A	1	0	0	0	0	0	0	0	1	13561	1625	57	4		4	RIT1	1	155900511	Silent	SNP	T	C3N-01074_TP	1966654	155900511	93055911	29	23466											
INSRR	0	.	GRCh38	chr1	156851986	156851986	+	Frame_Shift_Del	DEL	G	G	-																															ccgggcacagagtgcaggctGgcacagcgctcagctgtgac																								novel		C3N-01074_TP	C3N-01074_NB	G	G																c.843delC	p.Ser282AlafsTer49	p.S282Afs*49	ENST00000368195	3/22	109	90	19	130	130	0	sindel-varindel-pindel	INSRR,frameshift_variant,p.Ser282AlafsTer49,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;	-	ENST00000368195	Transcript	frameshift_variant	1240/5101	843/3894	281/1297	A/X	gcC/gc		1		-1	INSRR	HGNC	HGNC:6093	protein_coding	YES	CCDS1160.1	ENSP00000357178	P14616		UPI000012D8BD	NM_014215.2			3/22		hmmpanther:PTHR24416:SF338,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000620,Gene3D:2.10.220.10,Pfam_domain:PF00757,Superfamily_domains:SSF57184																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	73	156851986	156851986	G	-	1	0	1	0	1	0	0	0	0	7676	1335	47	0		0	INSRR	1	156851986	Frame_Shift_Del	DEL	G	C3N-01074_TP	951475	156851986	92104436	30	23467											
FCRL5	0	.	GRCh38	chr1	157527852	157527852	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtcccccaccacagcctgGgccctgggaaccctgagggt	7	5	13	16	0	0	1	0	1	0	0	1	2	1	2	6	4	2	0	6	4	1	0			C3N-01074_TP	C3N-01074_NB	G	G																c.1725C>A	p.=	p.A575A	ENST00000361835	9/17	87	62	25	111	111	0	strelka-varscan-mutect	FCRL5,synonymous_variant,p.=,ENST00000361835,NM_001195388.1,NM_031281.2;FCRL5,synonymous_variant,p.=,ENST00000368190,;FCRL5,downstream_gene_variant,,ENST00000368189,;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,;	T	ENST00000361835	Transcript	synonymous_variant	1883/5390	1725/2934	575/977	A	gcC/gcA	COSM3863044,COSM3863045	1		-1	FCRL5	HGNC	HGNC:18508	protein_coding	YES	CCDS1165.1	ENSP00000354691	Q96RD9		UPI0000458907	NM_001195388.1,NM_031281.2			9/17		PROSITE_profiles:PS50835,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	73	157527852	157527852	G	T	1	0	0	0	0	0	0	0	1	5660	1219	43	2		2	FCRL5	1	157527852	Silent	SNP	G	C3N-01074_TP	675866	157527852	91428570	31	23468											
SPTA1	0	.	GRCh38	chr1	158681528	158681528	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgttttaagttcgataccTtgtctccaatccactctaag	9	15	6	11	1	2	0	0	0	2	0	5	1	3	0	3	0	1	3	3	0	4	6	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.530A>G	p.Lys177Arg	p.K177R	ENST00000368147	4/52	514	456	58	507	507	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Lys177Arg,ENST00000368147,NM_003126.2;SPTA1,intron_variant,,ENST00000467387,;	C	ENST00000368147	Transcript	missense_variant,splice_region_variant	711/7999	530/7260	177/2419	K/R	aAg/aGg		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	tolerated(0.06)		4/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	73	158681528	158681528	T	C	1	0	0	0	0	1	0	0	0	15472	1623	56	5		5	SPTA1	1	158681528	Missense_Mutation	SNP	T	C3N-01074_TP	1153676	158681528	90274894	32	23469											
CADM3	0	.	GRCh38	chr1	159197048	159197048	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacaaggcctactacaccCtcaatgttaatggtaagccc	12	9	7	13	0	1	0	1	0	0	0	1	0	1	0	3	2	4	3	3	2	7	5			C3N-01074_TP	C3N-01074_NB	C	C																c.1042C>G	p.Leu348Val	p.L348V	ENST00000368124	8/10	138	113	25	139	139	0	strelka-varscan-mutect	CADM3,missense_variant,p.Leu314Val,ENST00000368125,NM_001127173.1;CADM3,missense_variant,p.Leu348Val,ENST00000368124,NM_021189.3;CADM3,downstream_gene_variant,,ENST00000416746,;CADM3-AS1,non_coding_transcript_exon_variant,,ENST00000415675,;CADM3-AS1,downstream_gene_variant,,ENST00000609696,;	G	ENST00000368124	Transcript	missense_variant	1199/2546	1042/1299	348/432	L/V	Ctc/Gtc	COSM3476428	1		1	CADM3	HGNC	HGNC:17601	protein_coding	YES	CCDS1182.1	ENSP00000357106	Q8N126		UPI000006E8A2	NM_021189.3	deleterious(0.03)		8/10		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF57,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	73	159197048	159197048	C	G	1	0	0	0	0	1	0	0	0	2258	681	24	4		4	CADM3	1	159197048	Missense_Mutation	SNP	C	C3N-01074_TP	515520	159197048	89759374	33	23470											
DEDD	0	.	GRCh38	chr1	161122323	161122323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccattgatgtagtcacGccagaatgcatcgaggtagg	12	8	13	8	2	1	3	1	1	0	2	2	4	1	3	2	2	2	3	2	2	3	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.781C>T	p.Arg261Cys	p.R261C	ENST00000368006	6/6	343	232	111	314	314	0	strelka-varscan-mutect	DEDD,missense_variant,p.Arg261Cys,ENST00000368006,NM_032998.2;DEDD,missense_variant,p.Arg261Cys,ENST00000545495,NM_001039711.1;DEDD,missense_variant,p.Arg261Cys,ENST00000458050,NM_001039712.1;DEDD,missense_variant,p.Arg261Cys,ENST00000490843,;DEDD,missense_variant,p.Arg291Cys,ENST00000368005,;DEDD,missense_variant,p.Arg261Cys,ENST00000464113,;NIT1,intron_variant,,ENST00000368008,NM_001185092.1;NIT1,downstream_gene_variant,,ENST00000368007,NM_001185093.1;NIT1,downstream_gene_variant,,ENST00000392190,NM_001185094.1;NIT1,downstream_gene_variant,,ENST00000368009,NM_005600.2;PFDN2,upstream_gene_variant,,ENST00000368010,NM_012394.3;DEDD,non_coding_transcript_exon_variant,,ENST00000489249,;DEDD,non_coding_transcript_exon_variant,,ENST00000486041,;DEDD,non_coding_transcript_exon_variant,,ENST00000473679,;NIT1,non_coding_transcript_exon_variant,,ENST00000479728,;DEDD,intron_variant,,ENST00000472996,;NIT1,downstream_gene_variant,,ENST00000496861,;NIT1,downstream_gene_variant,,ENST00000491497,;NIT1,downstream_gene_variant,,ENST00000485594,;DEDD,downstream_gene_variant,,ENST00000463227,;DEDD,downstream_gene_variant,,ENST00000496632,;NIT1,downstream_gene_variant,,ENST00000492411,;NIT1,downstream_gene_variant,,ENST00000496768,;NIT1,downstream_gene_variant,,ENST00000461376,;NIT1,downstream_gene_variant,,ENST00000479266,;NIT1,downstream_gene_variant,,ENST00000486962,;NIT1,downstream_gene_variant,,ENST00000477684,;PFDN2,upstream_gene_variant,,ENST00000468311,;NIT1,downstream_gene_variant,,ENST00000478277,;NIT1,downstream_gene_variant,,ENST00000473918,;	A	ENST00000368006	Transcript	missense_variant	996/2345	781/957	261/318	R/C	Cgt/Tgt		1		-1	DEDD	HGNC	HGNC:2755	protein_coding	YES	CCDS1219.1	ENSP00000356985	O75618		UPI0000031CE9	NM_032998.2	tolerated(0.08)		6/6		hmmpanther:PTHR15205,hmmpanther:PTHR15205:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	161122323	161122323	G	A	1	0	0	0	0	1	0	0	0	4187	1087	38	1		1	DEDD	1	161122323	Missense_Mutation	SNP	G	C3N-01074_TP	1925275	161122323	87834099	34	23471											
HSPA6	0	.	GRCh38	chr1	161526294	161526294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgccaaaaactcgctggagGcccatgtcttccatgtgaaa	11	9	9	12	1	1	1	0	1	1	0	3	2	2	2	3	2	2	1	3	2	3	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1636G>T	p.Ala546Ser	p.A546S	ENST00000309758	1/1	295	201	94	257	256	1	strelka-varscan-mutect	HSPA6,missense_variant,p.Ala546Ser,ENST00000309758,NM_002155.4;RP11-25K21.6,intron_variant,,ENST00000537821,;FCGR2A,downstream_gene_variant,,ENST00000491841,;FCGR2A,downstream_gene_variant,,ENST00000467525,;	T	ENST00000309758	Transcript	missense_variant	1755/2371	1636/1932	546/643	A/S	Gcc/Tcc		1		1	HSPA6	HGNC	HGNC:5239	protein_coding	YES	CCDS1231.1	ENSP00000310219	P17066		UPI0000074238	NM_002155.4	tolerated_low_confidence(1)		1/1		hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF168,Gene3D:1.20.1270.10,Pfam_domain:PF00012,Superfamily_domains:SSF100934																	MODERATE		SNV				1										PASS		.	.												T	3	4	73	161526294	161526294	G	T	1	0	0	0	0	1	0	0	0	7311	1203	42	2		2	HSPA6	1	161526294	Missense_Mutation	SNP	G	C3N-01074_TP	403971	161526294	87430128	35	23472											
SH2D1B	0	.	GRCh38	chr1	162411893	162411893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctactcacgagacacagaGgcacaggactcctggtatcg	11	6	12	12	2	1	2	1	0	0	2	3	4	2	3	1	4	1	3	1	4	2	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.124C>A	p.Leu42Ile	p.L42I	ENST00000367929	1/4	200	135	65	174	174	0	strelka-varscan-mutect	SH2D1B,missense_variant,p.Leu42Ile,ENST00000367929,NM_053282.4;SH2D1B,non_coding_transcript_exon_variant,,ENST00000493550,;	T	ENST00000367929	Transcript	missense_variant	234/2523	124/399	42/132	L/I	Ctc/Atc		1		-1	SH2D1B	HGNC	HGNC:30416	protein_coding	YES	CCDS30928.1	ENSP00000356906	O14796		UPI00000015D1	NM_053282.4	deleterious(0)		1/4		Gene3D:3.30.505.10,Pfam_domain:PF00017,Prints_domain:PR00401,PROSITE_profiles:PS50001,hmmpanther:PTHR11200,SMART_domains:SM00252,Superfamily_domains:SSF55550																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	162411893	162411893	G	T	1	0	0	0	0	1	0	0	0	14489	1000	35	2		2	SH2D1B	1	162411893	Missense_Mutation	SNP	G	C3N-01074_TP	885599	162411893	86544529	36	23473											
FAM78B	0	.	GRCh38	chr1	166070517	166070517	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggccaccagccaggtCgtgaaactttggtctctctt	7	13	9	12	1	3	1	1	1	2	0	5	1	3	1	3	3	2	0	3	3	1	3	rs143651089		C3N-01074_TP	C3N-01074_NB	C	C																c.510G>T	p.=	p.T170T	ENST00000338353	3/3	122	97	25	142	142	0	strelka-varscan-mutect	FAM78B,synonymous_variant,p.=,ENST00000338353,;FAM78B,synonymous_variant,p.=,ENST00000354422,NM_001017961.3;FAM78B,synonymous_variant,p.=,ENST00000435676,;FAM78B,synonymous_variant,p.=,ENST00000456900,;FAM78B,synonymous_variant,p.=,ENST00000441649,;	A	ENST00000338353	Transcript	synonymous_variant	1100/1597	510/786	170/261	T	acG/acT	rs143651089,TMP_ESP_1_166039754_166039754,COSM108432	1		-1	FAM78B	HGNC	HGNC:13495	protein_coding	YES	CCDS30931.1	ENSP00000339681	Q5VT40		UPI00001612B4				3/3		hmmpanther:PTHR31655,hmmpanther:PTHR31655:SF0											1,0,1						LOW	1	SNV	1		0,0,1	1										PASS		rs143651089	.												A	2	1	73	166070517	166070517	C	A	1	0	0	0	0	0	0	0	1	5488	871	31	1		1	FAM78B	1	166070517	Silent	SNP	C	C3N-01074_TP	3658624	166070517	82885905	37	23474											
MAEL	0	.	GRCh38	chr1	166989419	166989419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagaagatccccgaactaCggcgacgaggcctgcctgtg	10	5	14	12	4	0	2	0	0	0	2	1	6	1	2	4	3	3	0	4	3	3	1			C3N-01074_TP	C3N-01074_NB	C	C																c.67C>T	p.Arg23Trp	p.R23W	ENST00000367872	1/12	247	210	37	205	205	0	strelka-varscan-mutect	MAEL,missense_variant,p.Arg23Trp,ENST00000367872,NM_032858.2;MAEL,missense_variant,p.Arg23Trp,ENST00000367870,NM_001286377.1;MAEL,missense_variant,p.Arg23Trp,ENST00000447624,;MAEL,5_prime_UTR_variant,,ENST00000622874,NM_001286378.1;MAEL,upstream_gene_variant,,ENST00000491055,;	T	ENST00000367872	Transcript	missense_variant	311/1908	67/1305	23/434	R/W	Cgg/Tgg	COSM5189278	1		1	MAEL	HGNC	HGNC:25929	protein_coding	YES	CCDS1257.1	ENSP00000356846	Q96JY0	A0A140VJP0	UPI0000042202	NM_032858.2	deleterious(0)		1/12		Gene3D:1.10.30.10,Pfam_domain:PF09011,hmmpanther:PTHR21358,hmmpanther:PTHR21358:SF4,Superfamily_domains:SSF47095											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	73	166989419	166989419	C	T	1	0	0	0	0	1	0	0	0	9070	527	19	1		1	MAEL	1	166989419	Missense_Mutation	SNP	C	C3N-01074_TP	918902	166989419	81967003	38	23475											
METTL18	0	.	GRCh38	chr1	169793673	169793674	+	Frame_Shift_Del	DEL	GT	GT	-																															tttccagatggtcttctataGtgaaattaaactgaaaggtc																								novel		C3N-01074_TP	C3N-01074_NB	GT	GT																c.22_23delAC	p.Thr8TyrfsTer8	p.T8Yfs*8	ENST00000310392	2/2	82	67	15	108	108	0	sindel-varindel-pindel	METTL18,frameshift_variant,p.Thr8TyrfsTer8,ENST00000310392,NM_001320199.1,NM_033418.2;METTL18,frameshift_variant,p.Thr8TyrfsTer8,ENST00000303469,NM_001320201.1;METTL18,frameshift_variant,p.Thr8TyrfsTer8,ENST00000454472,;C1orf112,upstream_gene_variant,,ENST00000286031,NM_018186.2;C1orf112,upstream_gene_variant,,ENST00000359326,;C1orf112,upstream_gene_variant,,ENST00000413811,;C1orf112,upstream_gene_variant,,ENST00000472795,NM_001320051.1;C1orf112,upstream_gene_variant,,ENST00000496973,;C1orf112,intron_variant,,ENST00000498289,;C1orf112,upstream_gene_variant,,ENST00000459772,;C1orf112,upstream_gene_variant,,ENST00000466580,;C1orf112,upstream_gene_variant,,ENST00000481744,;	-	ENST00000310392	Transcript	frameshift_variant	376-377/1521	22-23/1119	8/372	T/X	ACt/t		1		-1	METTL18	HGNC	HGNC:28793	protein_coding	YES	CCDS1284.1	ENSP00000307975	O95568	A0A024R8Y7	UPI000006EC5C	NM_001320199.1,NM_033418.2			2/2																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	73	169793673	169793673	GT	-	1	0	1	0	1	0	0	0	0	9444	1029	36	0		0	METTL18	1	169793673	Frame_Shift_Del	DEL	GT	C3N-01074_TP	2804254	169793673	79162749	39	23476											
BRINP2	0	.	GRCh38	chr1	177230084	177230084	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccccttccaccgcgctcagGagtatgctgacttcatggag	7	9	11	14	2	2	1	2	1	0	0	3	3	3	3	4	2	1	3	4	2	1	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.208G>T	p.Glu70Ter	p.E70*	ENST00000361539	2/8	175	140	35	137	137	0	strelka-varscan-mutect	BRINP2,stop_gained,p.Glu70Ter,ENST00000361539,NM_021165.3;	T	ENST00000361539	Transcript	stop_gained	520/3558	208/2352	70/783	E/*	Gag/Tag		1		1	BRINP2	HGNC	HGNC:13746	protein_coding	YES	CCDS1320.1	ENSP00000354481	Q9C0B6		UPI000006DF55	NM_021165.3			2/8		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF8																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	73	177230084	177230084	G	T	1	0	0	0	0	0	1	0	0	1686	1175	41	2		2	BRINP2	1	177230084	Nonsense_Mutation	SNP	G	C3N-01074_TP	7436411	177230084	71726338	40	23477											
CFHR4	0	.	GRCh38	chr1	196906869	196906869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgtttcagaattttgtGatatgcctgtttttgagaat	9	21	8	3	0	1	3	1	2	0	2	1	4	1	3	1	0	1	2	1	0	3	8	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.445G>T	p.Asp149Tyr	p.D149Y	ENST00000367416	4/10	132	87	45	177	177	0	strelka-varscan-mutect	CFHR4,missense_variant,p.Asp149Tyr,ENST00000367416,NM_001201551.1,NM_001201550.2;CFHR4,intron_variant,,ENST00000608469,;CFHR4,intron_variant,,ENST00000251424,NM_006684.4;CFHR4,intron_variant,,ENST00000367418,;RP4-608O15.3,intron_variant,,ENST00000367421,;	T	ENST00000367416	Transcript	missense_variant	582/2178	445/1734	149/577	D/Y	Gat/Tat		1		1	CFHR4	HGNC	HGNC:16979	protein_coding	YES	CCDS55671.1	ENSP00000356386	Q92496		UPI0001F6C576	NM_001201551.1,NM_001201550.2	deleterious(0)		4/10		Gene3D:2.10.70.10,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF366,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	73	196906869	196906869	G	T	1	0	0	0	0	1	0	0	0	3045	1290	45	2		2	CFHR4	1	196906869	Missense_Mutation	SNP	G	C3N-01074_TP	19676785	196906869	52049553	41	23478											
CRB1	0	.	GRCh38	chr1	197347411	197347411	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatgcctctttgttggtCaaaaccttgtcacaataatg	10	15	7	9	0	3	1	2	1	1	0	3	1	3	1	2	1	2	1	2	1	4	5	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.920C>A	p.Ser307Ter	p.S307*	ENST00000367400	4/12	449	381	68	392	392	0	strelka-varscan-mutect	CRB1,stop_gained,p.Ser238Ter,ENST00000535699,NM_001257965.1;CRB1,stop_gained,p.Ser307Ter,ENST00000367400,NM_201253.2;CRB1,stop_gained,p.Ser307Ter,ENST00000538660,NM_001257966.1;CRB1,intron_variant,,ENST00000367399,NM_001193640.1;CRB1,stop_gained,p.Ser307Ter,ENST00000484075,;CRB1,non_coding_transcript_exon_variant,,ENST00000475659,;	A	ENST00000367400	Transcript	stop_gained	1055/4932	920/4221	307/1406	S/*	tCa/tAa		1		1	CRB1	HGNC	HGNC:2343	protein_coding	YES	CCDS1390.1	ENSP00000356370	P82279		UPI0000073345	NM_201253.2			4/12		Gene3D:2gy5A03,Pfam_domain:PF00008,PROSITE_profiles:PS50026,hmmpanther:PTHR24049,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	HIGH	1	SNV	1			1										PASS		rs1386566957	.												A	4	1	73	197347411	197347411	C	A	1	0	0	0	0	0	1	0	0	3648	838	29	2		2	CRB1	1	197347411	Nonsense_Mutation	SNP	C	C3N-01074_TP	440542	197347411	51609011	42	23479											
ZNF281	0	.	GRCh38	chr1	200407098	200407098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatcatatttgtataccCtgagaaatctgacactgaag	15	11	7	8	0	2	4	1	3	1	2	2	5	2	4	1	0	1	1	1	0	5	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2608G>T	p.Gly870Trp	p.G870W	ENST00000294740	2/2	238	201	37	234	234	0	strelka-varscan-mutect	ZNF281,missense_variant,p.Gly870Trp,ENST00000294740,NM_012482.4,NM_001281293.1;ZNF281,missense_variant,p.Gly870Trp,ENST00000367353,;ZNF281,missense_variant,p.Gly834Trp,ENST00000367352,NM_001281294.1;RP11-469A15.2,intron_variant,,ENST00000637430,;RP11-469A15.2,upstream_gene_variant,,ENST00000634596,;RP11-469A15.2,upstream_gene_variant,,ENST00000635220,;	A	ENST00000294740	Transcript	missense_variant	2733/4891	2608/2688	870/895	G/W	Ggg/Tgg		1		-1	ZNF281	HGNC	HGNC:13075	protein_coding	YES	CCDS1402.1	ENSP00000294740	Q9Y2X9		UPI000013C345	NM_012482.4,NM_001281293.1	deleterious(0)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	200407098	200407098	C	A	1	0	0	0	0	1	0	0	0	18394	681	24	2		2	ZNF281	1	200407098	Missense_Mutation	SNP	C	C3N-01074_TP	3059687	200407098	48549324	43	23480											
C1orf106	0	.	GRCh38	chr1	200911972	200911972	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggacagcccggcaggccgGgggctcagcaaggccgccgt	8	2	17	14	4	1	0	1	0	0	0	1	1	1	1	4	6	2	3	4	6	2	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1479G>T	p.=	p.R493R	ENST00000413687	9/10	144	110	34	142	141	1	strelka-varscan-mutect	C1orf106,synonymous_variant,p.=,ENST00000367342,NM_018265.3;C1orf106,synonymous_variant,p.=,ENST00000413687,NM_001142569.2;C1orf106,non_coding_transcript_exon_variant,,ENST00000465162,;C1orf106,downstream_gene_variant,,ENST00000526172,;C1orf106,downstream_gene_variant,,ENST00000531649,;	T	ENST00000413687	Transcript	synonymous_variant	1840/2197	1479/1737	493/578	R	cgG/cgT		1		1	C1orf106	HGNC	HGNC:25599	protein_coding	YES	CCDS44292.1	ENSP00000392105	Q3KP66		UPI0000204714	NM_001142569.2			9/10		hmmpanther:PTHR16093,hmmpanther:PTHR16093:SF4																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	73	200911972	200911972	G	T	1	0	0	0	0	0	0	0	1	1956	1219	43	2		2	C1orf106	1	200911972	Silent	SNP	G	C3N-01074_TP	504874	200911972	48044450	44	23481											
CHIT1	0	.	GRCh38	chr1	203217819	203217819	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtcatctaagtccagtGcccagaccatggccccgccc	10	6	8	17	1	2	1	1	0	1	1	3	1	3	1	6	1	1	0	6	1	2	1	rs201682373		C3N-01074_TP	C3N-01074_NB	G	G																c.1076C>G	p.Ala359Gly	p.A359G	ENST00000367229	10/11	243	228	15	258	254	4	varscan-mutect	CHIT1,missense_variant,p.Ala359Gly,ENST00000367229,NM_001270509.1,NM_003465.2;CHIT1,missense_variant,p.Ala340Gly,ENST00000255427,NM_001256125.1;CHIT1,non_coding_transcript_exon_variant,,ENST00000484834,;CHIT1,non_coding_transcript_exon_variant,,ENST00000479483,;CHIT1,downstream_gene_variant,,ENST00000506427,;CHIT1,missense_variant,p.Ala359Gly,ENST00000491855,;CHIT1,3_prime_UTR_variant,,ENST00000503786,;	C	ENST00000367229	Transcript	missense_variant	1111/2246	1076/1401	359/466	A/G	gCa/gGa	rs201682373	1		-1	CHIT1	HGNC	HGNC:1936	protein_coding	YES	CCDS1436.1	ENSP00000356198	Q13231		UPI00000399C1	NM_001270509.1,NM_003465.2	deleterious(0)		10/11		hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF211,Gene3D:3.20.20.80,Pfam_domain:PF00704,SMART_domains:SM00636,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		rs201682373	.												C	3	2	73	203217819	203217819	G	C	1	0	0	0	0	1	0	0	0	3105	1319	46	4		4	CHIT1	1	203217819	Missense_Mutation	SNP	G	C3N-01074_TP	2305847	203217819	45738603	45	23482											
REN	0	.	GRCh38	chr1	204162097	204162097	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggctccactcgggaccaagCctggccatgtccacacctcg	7	7	10	17	2	0	0	0	0	0	0	4	1	2	1	6	3	1	1	6	3	1	0	rs367565954		C3N-01074_TP	C3N-01074_NB	C	C																c.165G>A	p.=	p.R55R	ENST00000272190	2/10	548	459	89	387	386	1	strelka-varscan-mutect	REN,synonymous_variant,p.=,ENST00000638118,;REN,synonymous_variant,p.=,ENST00000272190,NM_000537.3;	T	ENST00000272190	Transcript	synonymous_variant	194/1447	165/1221	55/406	R	agG/agA	rs367565954	1		-1	REN	HGNC	HGNC:9958	protein_coding	YES	CCDS30981.1	ENSP00000272190	P00797		UPI000000091F	NM_000537.3			2/10		hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF77,Superfamily_domains:SSF50630																	LOW	1	SNV	1			1										PASS		rs367565954	.												T	2	4	73	204162097	204162097	C	T	1	0	0	0	0	0	0	0	1	13394	738	26	3		3	REN	1	204162097	Silent	SNP	C	C3N-01074_TP	944278	204162097	44794325	46	23483											
SLC41A1	0	.	GRCh38	chr1	205794927	205794927	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgagtgtgagggtggtgtgCccgccctgcatacagctgat	7	10	15	9	1	0	3	0	3	0	0	0	3	0	3	2	2	4	2	2	2	1	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1299G>T	p.=	p.G433G	ENST00000367137	10/11	464	368	96	377	377	0	strelka-varscan-mutect	SLC41A1,synonymous_variant,p.=,ENST00000367137,NM_173854.5;SLC41A1,non_coding_transcript_exon_variant,,ENST00000468057,;SLC41A1,non_coding_transcript_exon_variant,,ENST00000484228,;	A	ENST00000367137	Transcript	synonymous_variant	2314/4997	1299/1542	433/513	G	ggG/ggT		1		-1	SLC41A1	HGNC	HGNC:19429	protein_coding	YES	CCDS30988.1	ENSP00000356105	Q8IVJ1	B2RMP2	UPI000013E1E6	NM_173854.5			10/11		Superfamily_domains:0054748,Gene3D:2zy9B03,Pfam_domain:PF01769,hmmpanther:PTHR16228,hmmpanther:PTHR16228:SF23																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	73	205794927	205794927	C	A	1	0	0	0	0	0	0	0	1	14907	726	26	2		2	SLC41A1	1	205794927	Silent	SNP	C	C3N-01074_TP	1632830	205794927	43161495	47	23484											
SRGAP2	0	.	GRCh38	chr1	206454154	206454154	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaaaggttgatatccTgagtgagtctgcaccctccc	8	15	8	10	0	1	3	0	3	1	0	3	3	3	3	3	1	1	2	3	1	3	5	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.2368T>A	p.Ter790ArgextTer21	p.*790Rext*21	ENST00000605610	20/20	236	219	17	217	217	0	strelka-varscan-mutect	SRGAP2,stop_lost,p.Ter790ArgextTer21,ENST00000605610,NM_001300952.1;SRGAP2,intron_variant,,ENST00000573034,NM_015326.4;SRGAP2,intron_variant,,ENST00000624873,NM_001170637.3;SRGAP2,intron_variant,,ENST00000605476,;SRGAP2,intron_variant,,ENST00000604925,;SRGAP2,intron_variant,,ENST00000604010,;SRGAP2,non_coding_transcript_exon_variant,,ENST00000604247,;	A	ENST00000605610	Transcript	stop_lost	2666/3212	2368/2370	790/789	*/R	Tga/Aga		1		1	SRGAP2	HGNC	HGNC:19751	protein_coding		CCDS76261.1	ENSP00000473954		A0A075B7B5	UPI0003335127	NM_001300952.1			20/20																			HIGH		SNV	2			1										PASS		.	.												A	4	1	73	206454154	206454154	T	A	1	0	0	0	0	0	0	0	0	15505	1593	55	4		4	SRGAP2	1	206454154	Nonstop_Mutation	SNP	T	C3N-01074_TP	659227	206454154	42502268	48	23485											
SLC30A10	0	.	GRCh38	chr1	219918466	219918466	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accacaaccacggaccccagGgcatctcccatcacatgcaa	13	4	6	18	1	2	0	1	0	1	0	3	1	2	1	5	2	2	2	5	2	2	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.747C>A	p.=	p.A249A	ENST00000366926	3/4	103	80	23	101	101	0	strelka-varscan	SLC30A10,synonymous_variant,p.=,ENST00000366926,NM_018713.2;SLC30A10,non_coding_transcript_exon_variant,,ENST00000484079,;SLC30A10,non_coding_transcript_exon_variant,,ENST00000484239,;SLC30A10,3_prime_UTR_variant,,ENST00000356609,;	T	ENST00000366926	Transcript	synonymous_variant	909/1915	747/1458	249/485	A	gcC/gcA		1		-1	SLC30A10	HGNC	HGNC:25355	protein_coding	YES	CCDS31026.1	ENSP00000355893	Q6XR72		UPI000040E993	NM_018713.2			3/4		Superfamily_domains:0054606,Gene3D:3h90A01,Pfam_domain:PF01545,hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF14,TIGRFAM_domain:TIGR01297,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	73	219918466	219918466	G	T	1	0	0	0	0	0	0	0	1	14824	1219	43	2		2	SLC30A10	1	219918466	Silent	SNP	G	C3N-01074_TP	13464312	219918466	29037956	49	23486											
TP53BP2	0	.	GRCh38	chr1	223821319	223821319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttctggagtaactggaaCttctgtgaagtgctgctcat	8	15	11	7	0	3	1	1	1	2	0	3	3	3	3	0	2	4	4	0	2	3	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.76G>A	p.Val26Ile	p.V26I	ENST00000343537	2/18	441	310	131	440	440	0	strelka-varscan	TP53BP2,missense_variant,p.Val26Ile,ENST00000343537,NM_001031685.2;TP53BP2,5_prime_UTR_variant,,ENST00000391878,NM_005426.2;TP53BP2,non_coding_transcript_exon_variant,,ENST00000473135,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000472180,;TP53BP2,upstream_gene_variant,,ENST00000496282,;TP53BP2,intron_variant,,ENST00000465119,;	T	ENST00000343537	Transcript	missense_variant	368/4651	76/3405	26/1134	V/I	Gtt/Att		1		-1	TP53BP2	HGNC	HGNC:12000	protein_coding	YES	CCDS44319.1	ENSP00000341957	Q13625		UPI0000D4B5F2	NM_001031685.2	deleterious(0)		2/18		hmmpanther:PTHR24131:SF8,hmmpanther:PTHR24131,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	223821319	223821319	C	T	1	0	0	0	0	1	0	0	0	16862	565	20	3		3	TP53BP2	1	223821319	Missense_Mutation	SNP	C	C3N-01074_TP	3902853	223821319	25135103	50	23487											
TAF5L	0	.	GRCh38	chr1	229595001	229595001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaacaagagagcaaccCtgagctgtccgcgaggaacc	13	5	11	12	2	1	3	1	1	0	2	2	6	2	4	3	1	5	2	3	1	4	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1066G>T	p.Gly356Trp	p.G356W	ENST00000258281	5/5	198	165	33	202	202	0	strelka-varscan	TAF5L,missense_variant,p.Gly356Trp,ENST00000258281,NM_014409.3;TAF5L,missense_variant,p.Gly356Trp,ENST00000366676,;TAF5L,downstream_gene_variant,,ENST00000366675,NM_001025247.1;	A	ENST00000258281	Transcript	missense_variant	1232/3112	1066/1770	356/589	G/W	Ggg/Tgg		1		-1	TAF5L	HGNC	HGNC:17304	protein_coding	YES	CCDS1581.1	ENSP00000258281	O75529		UPI0000073E93	NM_014409.3	tolerated(0.18)		5/5		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19879,hmmpanther:PTHR19879:SF6,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	229595001	229595001	C	A	1	0	0	0	0	1	0	0	0	15925	681	24	2		2	TAF5L	1	229595001	Missense_Mutation	SNP	C	C3N-01074_TP	5773682	229595001	19361421	51	23488											
ACTN2	0	.	GRCh38	chr1	236737122	236737122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacctattgtgttttacagGccgagacagcggctaacagg	10	11	11	9	2	0	1	0	0	0	1	0	2	0	1	2	3	4	2	2	3	4	6	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.784G>T	p.Ala262Ser	p.A262S	ENST00000542672	9/21	401	335	66	305	305	0	strelka-varscan	ACTN2,missense_variant,p.Ala54Ser,ENST00000546208,NM_001278344.1;ACTN2,missense_variant,p.Ala262Ser,ENST00000542672,NM_001278343.1;ACTN2,missense_variant,p.Ala262Ser,ENST00000366578,NM_001103.3;ACTN2,splice_region_variant,,ENST00000492634,;ACTN2,non_coding_transcript_exon_variant,,ENST00000494762,;	T	ENST00000542672	Transcript	missense_variant,splice_region_variant	1004/4906	784/2685	262/894	A/S	Gcc/Tcc		1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1	tolerated(0.08)		9/21		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	236737122	236737122	G	T	1	0	0	0	0	1	0	0	0	249	1217	42	2		2	ACTN2	1	236737122	Missense_Mutation	SNP	G	C3N-01074_TP	7142121	236737122	12219300	52	23489											
KIF26B	0	.	GRCh38	chr1	245609509	245609510	+	Frame_Shift_Ins	INS	-	-	C																															ggcgtgtacctctgtgaggaINSccccatctgcggcacgcagg																								novel		C3N-01074_TP	C3N-01074_NB	-	-																c.1899dupC	p.Ile634HisfsTer39	p.I634Hfs*39	ENST00000407071	8/15	36	27	9	49	49	0	sindel-varindel	KIF26B,frameshift_variant,p.Ile253HisfsTer39,ENST00000366518,;KIF26B,frameshift_variant,p.Ile634HisfsTer39,ENST00000407071,NM_018012.3;	C	ENST00000407071	Transcript	frameshift_variant	2335-2336/7287	1895-1896/6327	632/2108	D/DX	gac/gaCc		1		1	KIF26B	HGNC	HGNC:25484	protein_coding	YES	CCDS44342.1	ENSP00000385545	Q2KJY2		UPI0000695D71	NM_018012.3			8/15		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540																	HIGH	1	insertion	1	4		1										PASS		.	.												C	7	5	73	245609509	245609509	-	C	1	0	1	1	0	0	0	0	0	8160	275	10	0		0	KIF26B	1	245609509	Frame_Shift_Ins	INS	-	C3N-01074_TP	8872387	245609509	3346913	53	23490	492	2									
KIF26B	0	.	GRCh38	chr1	245609514	245609514	+	Missense_Mutation	SNP	A	A	T																															tgtacctctgtgaggaccccAtctgcggcacgcaggtgatt																								novel		C3N-01074_TP	C3N-01074_NB	A	A																c.1900A>T	p.Ile634Phe	p.I634F	ENST00000407071	8/15	39	28	11	52	52	0	strelka-varscan	KIF26B,missense_variant,p.Ile253Phe,ENST00000366518,;KIF26B,missense_variant,p.Ile634Phe,ENST00000407071,NM_018012.3;	T	ENST00000407071	Transcript	missense_variant	2340/7287	1900/6327	634/2108	I/F	Atc/Ttc		1		1	KIF26B	HGNC	HGNC:25484	protein_coding	YES	CCDS44342.1	ENSP00000385545	Q2KJY2		UPI0000695D71	NM_018012.3	deleterious(0)		8/15		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	245609514	245609514	A	T	1	0	0	0	0	1	0	0	0	8160	217	8	4		4	KIF26B	1	245609514	Missense_Mutation	SNP	A	C3N-01074_TP	5	245609514	3346908	54	23491	492	2									
OR11L1	0	.	GRCh38	chr1	247841555	247841555	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcataggccatgaaggccagGagaaagcactcggtggcgcc	11	5	14	11	2	1	2	1	1	0	1	2	3	1	2	3	5	1	1	3	5	3	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.342C>A	p.=	p.L114L	ENST00000355784	1/1	306	261	45	372	372	0	strelka-varscan	OR11L1,synonymous_variant,p.=,ENST00000355784,NM_001001959.1;	T	ENST00000355784	Transcript	synonymous_variant	342/969	342/969	114/322	L	ctC/ctA		1		-1	OR11L1	HGNC	HGNC:14998	protein_coding	YES	CCDS31098.1	ENSP00000348033	Q8NGX0		UPI0000061EBC	NM_001001959.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF295,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												T	2	4	73	247841555	247841555	G	T	1	0	0	0	0	0	0	0	1	11007	1161	41	2		2	OR11L1	1	247841555	Silent	SNP	G	C3N-01074_TP	2232041	247841555	1114867	55	23492											
OR2T8	0	.	GRCh38	chr1	247921164	247921164	+	Nonsense_Mutation	SNP	G	G	A																															atgattctcctgattcactgGgaccaccggctccacacgcc																								rs755567259		C3N-01074_TP	C3N-01074_NB	G	G																c.147G>A	p.Trp49Ter	p.W49*	ENST00000319968	1/1	137	114	23	145	145	0	strelka-varscan	OR2T8,stop_gained,p.Trp49Ter,ENST00000319968,NM_001005522.1;	A	ENST00000319968	Transcript	stop_gained	147/939	147/939	49/312	W/*	tgG/tgA	rs755567259,COSM3486867	1		1	OR2T8	HGNC	HGNC:15020	protein_coding	YES	CCDS31100.1	ENSP00000326225	A6NH00		UPI00001999E3	NM_001005522.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											0,1						HIGH	1	SNV			0,1	1										PASS		.	.												A	4	1	73	247921164	247921164	G	A	1	0	0	0	0	0	1	0	0	11107	1241	43	3		3	OR2T8	1	247921164	Nonsense_Mutation	SNP	G	C3N-01074_TP	79609	247921164	1035258	56	23493	493	2									
OR2T8	0	.	GRCh38	chr1	247921165	247921165	+	Missense_Mutation	SNP	G	G	T																															tgattctcctgattcactggGaccaccggctccacacgccc																								novel		C3N-01074_TP	C3N-01074_NB	G	G																c.148G>T	p.Asp50Tyr	p.D50Y	ENST00000319968	1/1	136	112	24	143	143	0	strelka-varscan	OR2T8,missense_variant,p.Asp50Tyr,ENST00000319968,NM_001005522.1;	T	ENST00000319968	Transcript	missense_variant	148/939	148/939	50/312	D/Y	Gac/Tac		1		1	OR2T8	HGNC	HGNC:15020	protein_coding	YES	CCDS31100.1	ENSP00000326225	A6NH00		UPI00001999E3	NM_001005522.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	73	247921165	247921165	G	T	1	0	0	0	0	1	0	0	0	11107	1174	41	2		2	OR2T8	1	247921165	Missense_Mutation	SNP	G	C3N-01074_TP	1	247921165	1035257	57	23494	493	2									
PGBD2	0	.	GRCh38	chr1	248916624	248916624	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtcattgctgggagaggtAtccactcaaaggtgaagtct	11	11	12	7	0	3	2	2	1	1	1	4	3	4	2	1	3	1	2	1	3	3	2	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.40A>T	p.Ile14Phe	p.I14F	ENST00000329291	3/3	298	214	84	229	229	0	strelka-varscan	PGBD2,missense_variant,p.Ile14Phe,ENST00000329291,NM_170725.2;PGBD2,intron_variant,,ENST00000355360,NM_001017434.1;RNU6-1205P,upstream_gene_variant,,ENST00000363625,;PGBD2,intron_variant,,ENST00000462488,;	T	ENST00000329291	Transcript	missense_variant	187/2136	40/1779	14/592	I/F	Atc/Ttc		1		1	PGBD2	HGNC	HGNC:19399	protein_coding	YES	CCDS31128.1	ENSP00000331643	Q6P3X8		UPI000016196D	NM_170725.2	tolerated_low_confidence(0.76)		3/3		hmmpanther:PTHR28576,hmmpanther:PTHR28576:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	248916624	248916624	A	T	1	0	0	0	0	1	0	0	0	11871	449	16	4		4	PGBD2	1	248916624	Missense_Mutation	SNP	A	C3N-01074_TP	995459	248916624	39798	58	23495											
TPO	0	.	GRCh38	chr2	1433540	1433540	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgagcagcagagataatGgaaacatcaatacaagcgat	17	5	10	9	2	1	1	1	0	0	1	1	5	1	2	1	1	5	2	1	1	5	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.282G>C	p.Met94Ile	p.M94I	ENST00000345913	4/17	401	350	51	454	454	0	strelka-varscan-mutect	TPO,missense_variant,p.Met23Ile,ENST00000422464,;TPO,missense_variant,p.Met94Ile,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Met94Ile,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Met94Ile,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,missense_variant,p.Met94Ile,ENST00000346956,NM_175721.3;TPO,missense_variant,p.Met94Ile,ENST00000382198,NM_175722.3;TPO,missense_variant,p.Met94Ile,ENST00000539820,;TPO,missense_variant,p.Met94Ile,ENST00000382269,;TPO,missense_variant,p.Met94Ile,ENST00000423320,;TPO,intron_variant,,ENST00000497517,;	C	ENST00000345913	Transcript	missense_variant	373/3145	282/2802	94/933	M/I	atG/atC		1		1	TPO	HGNC	HGNC:12015	protein_coding	YES	CCDS1643.1	ENSP00000318820	P07202		UPI000013D480	NM_000547.5	deleterious(0.02)		4/17		hmmpanther:PTHR11475:SF60,hmmpanther:PTHR11475																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	73	1433540	1433540	G	C	1	0	0	0	0	1	0	0	0	16891	1348	47	4		4	TPO	2	1433540	Missense_Mutation	SNP	G	C3N-01074_TP		1433540	240759989	59	23496											
TDRD15	0	.	GRCh38	chr2	21140303	21140303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacattatcagagacattcCcatctttatttagtctttac	11	17	3	10	0	4	1	2	0	2	1	5	2	5	1	1	0	1	0	1	0	4	8	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2836C>A	p.Pro946Thr	p.P946T	ENST00000405799	4/4	202	180	22	251	251	0	strelka-varscan	TDRD15,missense_variant,p.Pro946Thr,ENST00000405799,;TDRD15,missense_variant,p.Pro946Thr,ENST00000622654,;	A	ENST00000405799	Transcript	missense_variant	3166/6135	2836/5805	946/1934	P/T	Cca/Aca		1		1	TDRD15	HGNC	HGNC:45037	protein_coding	YES	CCDS77385.1	ENSP00000384376	B5MCY1		UPI000173A3F5		tolerated(0.15)		4/4		hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	73	21140303	21140303	C	A	1	0	0	0	0	1	0	0	0	16141	623	22	2		2	TDRD15	2	21140303	Missense_Mutation	SNP	C	C3N-01074_TP	19706763	21140303	221053226	60	23497											
GAREM2	0	.	GRCh38	chr2	26187536	26187536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctctcaaccctttttccgGgcctgcctacccctcaggcc	5	10	7	19	1	2	0	2	0	1	0	4	0	3	0	7	2	4	1	7	2	2	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1904G>T	p.Gly635Val	p.G635V	ENST00000401533	6/6	47	30	17	57	56	1	strelka-varscan	GAREM2,missense_variant,p.Gly635Val,ENST00000401533,NM_001168241.1;GAREM2,intron_variant,,ENST00000407684,NM_001191033.1;HADHA,downstream_gene_variant,,ENST00000380649,NM_000182.4;HADHA,downstream_gene_variant,,ENST00000492433,;GAREM2,downstream_gene_variant,,ENST00000496070,;	T	ENST00000401533	Transcript	missense_variant	2034/4161	1904/2625	635/874	G/V	gGg/gTg		1		1	GAREM2	HGNC	HGNC:27172	protein_coding	YES	CCDS54336.1	ENSP00000384593	Q75VX8		UPI0000237273	NM_001168241.1	deleterious(0.02)		6/6		hmmpanther:PTHR14454,hmmpanther:PTHR14454:SF5,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	26187536	26187536	G	T	1	0	0	0	0	1	0	0	0	6110	1232	43	2		2	GAREM2	2	26187536	Missense_Mutation	SNP	G	C3N-01074_TP	5047233	26187536	216005993	61	23498											
SLC5A6	0	.	GRCh38	chr2	27201035	27201035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtggagccgcttctgacagGacaacggaaggagggacagg	12	4	17	8	2	1	1	0	1	1	0	1	6	1	6	1	6	2	1	1	6	2	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1727C>T	p.Ser576Phe	p.S576F	ENST00000310574	16/17	83	70	13	86	86	0	strelka-varscan	SLC5A6,missense_variant,p.Ser576Phe,ENST00000310574,NM_021095.2;SLC5A6,missense_variant,p.Ser576Phe,ENST00000408041,;SLC5A6,downstream_gene_variant,,ENST00000412471,;SLC5A6,downstream_gene_variant,,ENST00000461319,;SLC5A6,non_coding_transcript_exon_variant,,ENST00000488743,;SLC5A6,non_coding_transcript_exon_variant,,ENST00000461757,;SLC5A6,downstream_gene_variant,,ENST00000445802,;SLC5A6,downstream_gene_variant,,ENST00000476319,;SLC5A6,downstream_gene_variant,,ENST00000492069,;SLC5A6,downstream_gene_variant,,ENST00000464538,;SLC5A6,downstream_gene_variant,,ENST00000481751,;	A	ENST00000310574	Transcript	missense_variant	2201/3231	1727/1908	576/635	S/F	tCc/tTc		1		-1	SLC5A6	HGNC	HGNC:11041	protein_coding	YES	CCDS1740.1	ENSP00000310208	Q9Y289		UPI000006DE33	NM_021095.2	tolerated(0.43)		16/17		hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF140,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	27201035	27201035	G	A	1	0	0	0	0	1	0	0	0	14952	1174	41	3		3	SLC5A6	2	27201035	Missense_Mutation	SNP	G	C3N-01074_TP	1013499	27201035	214992494	62	23499											
MPV17	0	.	GRCh38	chr2	27322485	27322485	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actttccacgggtgagcggcCagggcccgctggtatgcccg	5	7	15	14	4	0	1	0	1	0	0	1	1	1	1	4	4	2	2	4	4	1	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.33G>T	p.=	p.L11L	ENST00000380044	2/8	496	320	176	375	373	2	strelka-varscan	MPV17,synonymous_variant,p.=,ENST00000380044,NM_002437.4;MPV17,synonymous_variant,p.=,ENST00000233545,;MPV17,synonymous_variant,p.=,ENST00000402310,;MPV17,synonymous_variant,p.=,ENST00000405983,;MPV17,synonymous_variant,p.=,ENST00000402722,;MPV17,synonymous_variant,p.=,ENST00000399052,;MPV17,synonymous_variant,p.=,ENST00000403262,;MPV17,synonymous_variant,p.=,ENST00000405076,;MPV17,5_prime_UTR_variant,,ENST00000428910,;MPV17,intron_variant,,ENST00000357186,;GTF3C2,downstream_gene_variant,,ENST00000359541,NM_001318909.1;GTF3C2,downstream_gene_variant,,ENST00000264720,NM_001521.3,NM_001035521.2;GTF3C2,downstream_gene_variant,,ENST00000454704,;GTF3C2,downstream_gene_variant,,ENST00000457098,;GTF3C2,downstream_gene_variant,,ENST00000431028,;MPV17,synonymous_variant,p.=,ENST00000426513,;MPV17,synonymous_variant,p.=,ENST00000415514,;MPV17,non_coding_transcript_exon_variant,,ENST00000617583,;MPV17,non_coding_transcript_exon_variant,,ENST00000621183,;MPV17,non_coding_transcript_exon_variant,,ENST00000622003,;MPV17,non_coding_transcript_exon_variant,,ENST00000621470,;MPV17,non_coding_transcript_exon_variant,,ENST00000494436,;MPV17,non_coding_transcript_exon_variant,,ENST00000486898,;GTF3C2,downstream_gene_variant,,ENST00000495298,;GTF3C2,downstream_gene_variant,,ENST00000415683,;	A	ENST00000380044	Transcript	synonymous_variant	89/1005	33/531	11/176	L	ctG/ctT		1		-1	MPV17	HGNC	HGNC:7224	protein_coding	YES	CCDS1748.1	ENSP00000369383	P39210	A0A0S2Z3Z9	UPI000012F4BD	NM_002437.4			2/8		hmmpanther:PTHR11266																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	73	27322485	27322485	C	A	1	0	0	0	0	0	0	0	1	9711	581	21	2		2	MPV17	2	27322485	Silent	SNP	C	C3N-01074_TP	121450	27322485	214871044	63	23500											
PLB1	0	.	GRCh38	chr2	28516852	28516852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagaaagagtacattggaaGggcagctatggccagaggta	14	7	14	6	0	0	3	0	0	0	3	0	4	0	4	1	4	2	4	1	4	6	5	rs751867991		C3N-01074_TP	C3N-01074_NB	G	G																c.100G>T	p.Gly34Trp	p.G34W	ENST00000327757	2/58	234	177	57	184	184	0	strelka-varscan	PLB1,missense_variant,p.Gly34Trp,ENST00000422425,NM_001170585.1;PLB1,missense_variant,p.Gly34Trp,ENST00000327757,NM_153021.4;PLB1,missense_variant,p.Gly33Trp,ENST00000404858,;PLB1,5_prime_UTR_variant,,ENST00000416713,;	T	ENST00000327757	Transcript	missense_variant	144/5107	100/4377	34/1458	G/W	Ggg/Tgg	rs751867991	1		1	PLB1	HGNC	HGNC:30041	protein_coding	YES	CCDS33168.1	ENSP00000330442	Q6P1J6		UPI0000D6117C	NM_153021.4	deleterious(0.04)		2/58																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	28516852	28516852	G	T	1	0	0	0	0	1	0	0	0	12118	1000	35	2		2	PLB1	2	28516852	Missense_Mutation	SNP	G	C3N-01074_TP	1194367	28516852	213676677	64	23501											
GALNT14	0	.	GRCh38	chr2	30932125	30932125	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgcttcttccggaagAcgtgccccactcggctgcag	6	8	14	13	3	1	1	0	0	1	1	3	2	2	2	3	4	3	3	3	4	1	2	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.1016T>A	p.Val339Asp	p.V339D	ENST00000324589	11/16	77	55	22	46	46	0	strelka-varscan	GALNT14,missense_variant,p.Val334Asp,ENST00000349752,NM_024572.3;GALNT14,missense_variant,p.Val314Asp,ENST00000406653,NM_001253827.1;GALNT14,missense_variant,p.Val339Asp,ENST00000324589,NM_001253826.1;GALNT14,missense_variant,p.Val301Asp,ENST00000430167,;GALNT14,non_coding_transcript_exon_variant,,ENST00000486564,;GALNT14,non_coding_transcript_exon_variant,,ENST00000464038,;GALNT14,downstream_gene_variant,,ENST00000481023,;GALNT14,3_prime_UTR_variant,,ENST00000455477,;	T	ENST00000324589	Transcript	missense_variant	1077/2169	1016/1674	339/557	V/D	gTc/gAc		1		-1	GALNT14	HGNC	HGNC:22946	protein_coding	YES	CCDS58706.1	ENSP00000314500	Q96FL9		UPI0000073A6F	NM_001253826.1	deleterious(0)		11/16		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF8,Superfamily_domains:SSF53448																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	73	30932125	30932125	A	T	1	0	0	0	0	1	0	0	0	6080	275	10	4		4	GALNT14	2	30932125	Missense_Mutation	SNP	A	C3N-01074_TP	2415273	30932125	211261404	65	23502											
NLRC4	0	.	GRCh38	chr2	32249916	32249916	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagttgaagaacaaagAtacagccctgctgggaatgt	13	9	10	9	0	0	3	0	1	0	2	1	4	1	4	2	1	4	2	2	1	5	3	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.1948T>A	p.Ser650Thr	p.S650T	ENST00000404025	5/10	304	243	61	335	335	0	strelka-varscan	NLRC4,missense_variant,p.Ser650Thr,ENST00000404025,;NLRC4,missense_variant,p.Ser650Thr,ENST00000360906,NM_001199139.1,NM_021209.4;NLRC4,missense_variant,p.Ser650Thr,ENST00000402280,NM_001199138.1;NLRC4,intron_variant,,ENST00000342905,NM_001302504.1;	T	ENST00000404025	Transcript	missense_variant	2437/3581	1948/3075	650/1024	S/T	Tct/Act		1		-1	NLRC4	HGNC	HGNC:16412	protein_coding	YES	CCDS33174.1	ENSP00000385090	Q9NPP4		UPI0000126FAD		deleterious(0.01)		5/10		hmmpanther:PTHR10044:SF104,hmmpanther:PTHR10044,Superfamily_domains:SSF52047																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	73	32249916	32249916	A	T	1	0	0	0	0	1	0	0	0	10506	333	12	4		4	NLRC4	2	32249916	Missense_Mutation	SNP	A	C3N-01074_TP	1317791	32249916	209943613	66	23503											
VIT	0	.	GRCh38	chr2	36767194	36767194	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcactgtagctgtggccacCcccaccaccttgccaaggcc	7	7	9	18	0	1	0	1	0	0	0	1	0	1	0	7	2	2	2	7	2	2	2	rs764843769		C3N-01074_TP	C3N-01074_NB	C	C																c.588C>T	p.=	p.T196T	ENST00000379242	7/16	202	123	79	157	157	0	strelka-varscan	VIT,synonymous_variant,p.=,ENST00000379242,NM_053276.3;VIT,synonymous_variant,p.=,ENST00000389975,NM_001177969.1;VIT,synonymous_variant,p.=,ENST00000379241,NM_001177971.1;VIT,synonymous_variant,p.=,ENST00000404084,;VIT,synonymous_variant,p.=,ENST00000401530,NM_001177970.1;VIT,5_prime_UTR_variant,,ENST00000497382,;	T	ENST00000379242	Transcript	synonymous_variant	890/2810	588/2082	196/693	T	acC/acT	rs764843769	1		1	VIT	HGNC	HGNC:12697	protein_coding	YES	CCDS33180.1	ENSP00000368544	Q6UXI7		UPI000006E0F8	NM_053276.3			7/16		Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	73	36767194	36767194	C	T	1	0	0	0	0	0	0	0	1	17718	610	22	3		3	VIT	2	36767194	Silent	SNP	C	C3N-01074_TP	4517278	36767194	205426335	67	23504											
EPCAM	0	.	GRCh38	chr2	47374002	47374002	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acactgctggggtcagaagaAcagacaaggacactgaaata	17	5	11	8	0	1	4	1	1	0	3	1	5	1	5	0	3	2	1	0	3	5	1	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.379A>T	p.Thr127Ser	p.T127S	ENST00000263735	3/9	419	333	86	382	381	1	strelka-varscan	EPCAM,missense_variant,p.Thr127Ser,ENST00000263735,NM_002354.2;EPCAM,missense_variant,p.Thr155Ser,ENST00000405271,;EPCAM,downstream_gene_variant,,ENST00000419334,;MIR559,upstream_gene_variant,,ENST00000385188,;EPCAM,missense_variant,p.Thr155Ser,ENST00000456133,;EPCAM,non_coding_transcript_exon_variant,,ENST00000490733,;EPCAM,non_coding_transcript_exon_variant,,ENST00000474691,;	T	ENST00000263735	Transcript	missense_variant	737/1724	379/945	127/314	T/S	Aca/Tca		1		1	EPCAM	HGNC	HGNC:11529	protein_coding	YES	CCDS1833.1	ENSP00000263735	P16422		UPI000013D450	NM_002354.2	deleterious(0.02)		3/9		PROSITE_profiles:PS51162,hmmpanther:PTHR14168:SF2,hmmpanther:PTHR14168,Pfam_domain:PF00086,Gene3D:4.10.800.10,SMART_domains:SM00211,Superfamily_domains:SSF57610																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	47374002	47374002	A	T	1	0	0	0	0	1	0	0	0	5008	43	2	4		4	EPCAM	2	47374002	Missense_Mutation	SNP	A	C3N-01074_TP	10606808	47374002	194819527	68	23505											
CCDC85A	0	.	GRCh38	chr2	56372404	56372404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaatatggagaaaggctggGggtccagagcccggcgggtc	10	5	17	9	2	0	2	0	0	0	2	2	3	1	2	2	6	1	1	2	6	3	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1378G>T	p.Gly460Trp	p.G460W	ENST00000407595	4/6	144	95	49	138	138	0	strelka-varscan	CCDC85A,missense_variant,p.Gly460Trp,ENST00000407595,NM_001080433.1;RP11-482H16.1,intron_variant,,ENST00000607540,;	T	ENST00000407595	Transcript	missense_variant	1880/3982	1378/1662	460/553	G/W	Ggg/Tgg		1		1	CCDC85A	HGNC	HGNC:29400	protein_coding	YES	CCDS46290.1	ENSP00000384040	Q96PX6		UPI00001C1DC1	NM_001080433.1	tolerated_low_confidence(0.06)		4/6																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	56372404	56372404	G	T	1	0	0	0	0	1	0	0	0	2557	1232	43	2		2	CCDC85A	2	56372404	Missense_Mutation	SNP	G	C3N-01074_TP	8998402	56372404	185821125	69	23506											
ADD2	0	.	GRCh38	chr2	70690924	70690924	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggccccacttcatggcCgacaccttagagagacaatg	12	6	11	12	1	1	2	1	0	0	2	1	5	1	3	4	3	0	0	4	3	2	2	rs782694329		C3N-01074_TP	C3N-01074_NB	C	C																c.711G>T	p.=	p.S237S	ENST00000264436	8/16	114	76	38	88	88	0	strelka-varscan	ADD2,synonymous_variant,p.=,ENST00000264436,NM_001617.3;ADD2,synonymous_variant,p.=,ENST00000413157,NM_017482.3;ADD2,synonymous_variant,p.=,ENST00000407644,NM_001185054.1;ADD2,synonymous_variant,p.=,ENST00000355733,NM_017488.3;ADD2,synonymous_variant,p.=,ENST00000430656,NM_001185055.1;ADD2,synonymous_variant,p.=,ENST00000456320,;ADD2,intron_variant,,ENST00000522886,;ADD2,downstream_gene_variant,,ENST00000415348,;AC007395.3,intron_variant,,ENST00000457851,;ADD2,synonymous_variant,p.=,ENST00000403045,;	A	ENST00000264436	Transcript	synonymous_variant	1156/9267	711/2181	237/726	S	tcG/tcT	rs782694329	1		-1	ADD2	HGNC	HGNC:244	protein_coding	YES	CCDS1906.1	ENSP00000264436	P35612		UPI0000125503	NM_001617.3			8/16		hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF6,Pfam_domain:PF00596,Gene3D:3.40.225.10,SMART_domains:SM01007,Superfamily_domains:SSF53639																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	73	70690924	70690924	C	A	1	0	0	0	0	0	0	0	1	349	666	23	1		1	ADD2	2	70690924	Silent	SNP	C	C3N-01074_TP	14318520	70690924	171502605	70	23507											
KCMF1	0	.	GRCh38	chr2	85046240	85046240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttcttctcagagttcatAttctccaagcaatagggaag	11	14	7	9	0	5	1	2	0	4	1	7	2	5	2	1	1	1	2	1	1	5	7	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.563A>G	p.Tyr188Cys	p.Y188C	ENST00000409785	5/7	238	199	39	209	209	0	strelka-varscan	KCMF1,missense_variant,p.Tyr188Cys,ENST00000409785,NM_020122.4;KCMF1,missense_variant,p.Tyr137Cys,ENST00000453448,;	G	ENST00000409785	Transcript	missense_variant	922/7568	563/1146	188/381	Y/C	tAt/tGt		1		1	KCMF1	HGNC	HGNC:20589	protein_coding	YES	CCDS46350.1	ENSP00000386738	Q9P0J7		UPI000003615C	NM_020122.4	tolerated(0.13)		5/7		Low_complexity_(Seg):seg,hmmpanther:PTHR12268																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	73	85046240	85046240	A	G	1	0	0	0	0	1	0	0	0	7916	449	16	5		5	KCMF1	2	85046240	Missense_Mutation	SNP	A	C3N-01074_TP	14355316	85046240	157147289	71	23508											
MRPS9	0	.	GRCh38	chr2	105080000	105080000	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcaatccagtggggagaaGatggccgtccatttcactat	11	9	11	10	1	1	2	1	0	0	2	3	3	3	2	3	3	1	1	3	3	3	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.427G>C	p.Asp143His	p.D143H	ENST00000258455	5/11	257	184	73	285	285	0	strelka-varscan	MRPS9,missense_variant,p.Asp143His,ENST00000258455,NM_182640.2;	C	ENST00000258455	Transcript	missense_variant	537/1500	427/1191	143/396	D/H	Gat/Cat		1		1	MRPS9	HGNC	HGNC:14501	protein_coding	YES	CCDS2065.1	ENSP00000258455	P82933		UPI00000467F9	NM_182640.2	deleterious(0)		5/11		hmmpanther:PTHR21569,hmmpanther:PTHR21569:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	73	105080000	105080000	G	C	1	0	0	0	0	1	0	0	0	9826	942	33	4		4	MRPS9	2	105080000	Missense_Mutation	SNP	G	C3N-01074_TP	20033760	105080000	137113529	72	23509											
IL36G	0	.	GRCh38	chr2	112980139	112980139	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggagaacagcccacattGcagctaaaagtgagtagcta	14	8	11	8	0	0	2	0	1	0	1	0	3	0	2	1	1	5	5	1	1	5	5	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.291G>A	p.=	p.L97L	ENST00000259205	4/5	205	179	26	198	198	0	strelka-varscan-mutect	IL36G,synonymous_variant,p.=,ENST00000259205,NM_019618.3;IL36G,synonymous_variant,p.=,ENST00000376489,NM_001278568.1;IL36G,downstream_gene_variant,,ENST00000447128,;HMGN2P23,downstream_gene_variant,,ENST00000456759,;	A	ENST00000259205	Transcript	synonymous_variant	360/1195	291/510	97/169	L	ttG/ttA		1		1	IL36G	HGNC	HGNC:15741	protein_coding	YES	CCDS2108.1	ENSP00000259205	Q9NZH8		UPI0000038BF0	NM_019618.3			4/5		hmmpanther:PTHR10078:SF27,hmmpanther:PTHR10078,Gene3D:2.80.10.50,Pfam_domain:PF00340,SMART_domains:SM00125,Superfamily_domains:SSF50353,Prints_domain:PR01360																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	73	112980139	112980139	G	A	1	0	0	0	0	0	0	0	1	7596	1310	46	3		3	IL36G	2	112980139	Silent	SNP	G	C3N-01074_TP	7900139	112980139	129213390	73	23510											
LIMS2	0	.	GRCh38	chr2	127654424	127654424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaacacggccacctcacCtgccggcattcttcacaaag	10	6	7	18	2	3	0	2	0	1	0	3	0	3	0	5	2	2	1	5	2	2	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.431G>C	p.Arg144Thr	p.R144T	ENST00000324938	4/10	221	133	88	183	183	0	strelka-varscan-mutect	LIMS2,missense_variant,p.Arg115Thr,ENST00000409455,;LIMS2,missense_variant,p.Arg115Thr,ENST00000410011,NM_001161404.1;LIMS2,missense_variant,p.Arg115Thr,ENST00000409808,;LIMS2,missense_variant,p.Arg144Thr,ENST00000324938,NM_017980.4;LIMS2,missense_variant,p.Arg120Thr,ENST00000355119,NM_001161403.1;LIMS2,missense_variant,p.Arg142Thr,ENST00000545738,NM_001136037.2;GPR17,downstream_gene_variant,,ENST00000544369,NM_001161415.1;GPR17,downstream_gene_variant,,ENST00000272644,NM_005291.2;GPR17,downstream_gene_variant,,ENST00000393018,;LIMS2,upstream_gene_variant,,ENST00000409254,;GPR17,downstream_gene_variant,,ENST00000423019,;GPR17,downstream_gene_variant,,ENST00000486700,;GPR17,downstream_gene_variant,,ENST00000496086,;LIMS2,splice_region_variant,,ENST00000469300,;LIMS2,splice_region_variant,,ENST00000466410,;LIMS2,splice_region_variant,,ENST00000476932,;LIMS2,upstream_gene_variant,,ENST00000413578,;	G	ENST00000324938	Transcript	missense_variant,splice_region_variant	589/2111	431/1098	144/365	R/T	aGg/aCg		1		-1	LIMS2	HGNC	HGNC:16084	protein_coding	YES	CCDS2147.1	ENSP00000326888	Q7Z4I7		UPI00001B5BF3	NM_017980.4	deleterious(0)		4/10		PROSITE_profiles:PS50023,hmmpanther:PTHR24210:SF10,hmmpanther:PTHR24210,Gene3D:2.10.110.10,Pfam_domain:PF00412,PIRSF_domain:PIRSF038003,SMART_domains:SM00132,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	73	127654424	127654424	C	G	1	0	0	0	0	1	0	0	0	8712	695	24	4		4	LIMS2	2	127654424	Missense_Mutation	SNP	C	C3N-01074_TP	14674285	127654424	114539105	74	23511											
CCDC74B	0	.	GRCh38	chr2	130142338	130142338	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagacccagcgagcgccCaagggagcagaggccctgga	11	2	15	13	2	0	2	0	0	0	2	0	5	0	4	3	3	4	2	3	3	1	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.339G>C	p.Leu113Phe	p.L113F	ENST00000310463	3/8	155	95	60	167	167	0	strelka-varscan-mutect	CCDC74B,missense_variant,p.Leu113Phe,ENST00000310463,NM_207310.2;CCDC74B,missense_variant,p.Leu113Phe,ENST00000392984,;CCDC74B,missense_variant,p.Leu155Phe,ENST00000457413,;CCDC74B,intron_variant,,ENST00000409943,NM_001258307.1;CCDC74B,intron_variant,,ENST00000409128,;CCDC74B,downstream_gene_variant,,ENST00000409234,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,missense_variant,p.Trp104Ser,ENST00000423263,;CCDC74B,3_prime_UTR_variant,,ENST00000434929,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,upstream_gene_variant,,ENST00000498526,;MED15P9,downstream_gene_variant,,ENST00000424716,;	G	ENST00000310463	Transcript	missense_variant	477/1549	339/1143	113/380	L/F	ttG/ttC		1		-1	CCDC74B	HGNC	HGNC:25267	protein_coding	YES	CCDS2155.1	ENSP00000308873	Q96LY2		UPI000006D822	NM_207310.2	tolerated(0.71)		3/8		hmmpanther:PTHR14882,hmmpanther:PTHR14882:SF5																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	73	130142338	130142338	C	G	1	0	0	0	0	1	0	0	0	2548	593	21	4		4	CCDC74B	2	130142338	Missense_Mutation	SNP	C	C3N-01074_TP	2487914	130142338	112051191	75	23512											
AMER3	0	.	GRCh38	chr2	130763888	130763888	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcgagaggaagagacaCgaggtcactctgaaggcttg	11	7	13	10	2	3	3	1	1	2	2	4	7	3	4	1	3	0	1	1	3	2	1	rs781541050		C3N-01074_TP	C3N-01074_NB	C	C																c.1816C>A	p.=	p.R606R	ENST00000423981	2/2	195	123	72	224	224	0	strelka-varscan-mutect	AMER3,synonymous_variant,p.=,ENST00000423981,NM_001105193.1,NM_001105195.1,NM_001105194.1;AMER3,synonymous_variant,p.=,ENST00000321420,NM_152698.2;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	A	ENST00000423981	Transcript	synonymous_variant	1926/6172	1816/2586	606/861	R	Cga/Aga	rs781541050	1		1	AMER3	HGNC	HGNC:26771	protein_coding	YES	CCDS2164.1	ENSP00000392700	Q8N944		UPI0000D61239	NM_001105193.1,NM_001105195.1,NM_001105194.1			2/2		hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2																	LOW	1	SNV	4			1										PASS		rs781541050	.												A	2	1	73	130763888	130763888	C	A	1	0	0	0	0	0	0	0	1	669	528	19	1		1	AMER3	2	130763888	Silent	SNP	C	C3N-01074_TP	621550	130763888	111429641	76	23513											
LRP1B	0	.	GRCh38	chr2	140444627	140444627	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagatgaaagctggtagAgcacagagtccagtcccaca	14	6	10	11	0	1	4	1	1	0	3	3	4	3	4	2	1	2	3	2	1	2	1	rs536761851		C3N-01074_TP	C3N-01074_NB	A	A																c.10110T>A	p.=	p.A3370A	ENST00000389484	64/91	312	274	38	324	324	0	strelka-varscan-mutect	LRP1B,synonymous_variant,p.=,ENST00000389484,NM_018557.2;	T	ENST00000389484	Transcript	synonymous_variant	11082/16535	10110/13800	3370/4599	A	gcT/gcA	rs536761851	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2			64/91		PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424																	LOW	1	SNV	1			1										PASS		rs536761851	.												T	2	4	73	140444627	140444627	A	T	1	0	0	0	0	0	0	0	1	8850	291	11	4		4	LRP1B	2	140444627	Silent	SNP	A	C3N-01074_TP	9680739	140444627	101748902	77	23514											
PLA2R1	0	.	GRCh38	chr2	159979851	159979851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagttctatcagaccactcCcatgagccggcattcagtgg	9	9	11	12	1	3	2	2	1	1	1	4	3	4	3	3	3	1	2	3	3	1	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2247G>T	p.Trp749Cys	p.W749C	ENST00000283243	14/30	269	178	91	245	245	0	strelka-varscan-mutect	PLA2R1,missense_variant,p.Trp749Cys,ENST00000283243,NM_007366.4,NM_001195641.1;PLA2R1,missense_variant,p.Trp749Cys,ENST00000392771,NM_001007267.2;	A	ENST00000283243	Transcript	missense_variant	2454/14371	2247/4392	749/1463	W/C	tgG/tgT		1		-1	PLA2R1	HGNC	HGNC:9042	protein_coding	YES	CCDS33309.1	ENSP00000283243	Q13018		UPI00001AEA9D	NM_007366.4,NM_001195641.1	deleterious(0)		14/30		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF74,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	159979851	159979851	C	A	1	0	0	0	0	1	0	0	0	12106	624	22	2		2	PLA2R1	2	159979851	Missense_Mutation	SNP	C	C3N-01074_TP	19535224	159979851	82213678	78	23515											
XIRP2	0	.	GRCh38	chr2	167244692	167244692	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtaaatggctttttgagacCcagccaatggagtctcttta	10	14	9	8	0	1	1	0	1	1	1	2	3	1	2	2	2	1	2	2	2	4	5	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.3300C>A	p.=	p.T1100T	ENST00000409195	9/11	237	162	75	286	286	0	strelka-varscan-mutect	XIRP2,synonymous_variant,p.=,ENST00000409195,NM_152381.5;XIRP2,synonymous_variant,p.=,ENST00000409273,NM_001199144.1;XIRP2,synonymous_variant,p.=,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	A	ENST00000409195	Transcript	synonymous_variant	3389/12675	3300/10650	1100/3549	T	acC/acA		1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5			9/11		Pfam_domain:PF08043,PROSITE_profiles:PS51389,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	73	167244692	167244692	C	A	1	0	0	0	0	0	0	0	1	17989	610	22	2		2	XIRP2	2	167244692	Silent	SNP	C	C3N-01074_TP	7264841	167244692	74948837	79	23516											
AC013461.1	0	.	GRCh38	chr2	173221170	173221170	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcttgcctcttgctgcAagaatgtctgaggagtctta	7	15	9	10	0	4	2	0	1	4	1	5	3	4	3	1	1	3	2	1	1	3	4	rs150222131		C3N-01074_TP	C3N-01074_NB	A	A																c.1008A>G	p.=	p.A336A	ENST00000338983	12/12	36	22	14	61	61	0	strelka-varscan-mutect	AC013461.1,synonymous_variant,p.=,ENST00000338983,NM_133646.2;AC013461.1,synonymous_variant,p.=,ENST00000539448,;AC013461.1,intron_variant,,ENST00000375213,NM_016653.2;AC013461.1,intron_variant,,ENST00000409176,;MLK7-AS1,intron_variant,,ENST00000423106,;MLK7-AS1,intron_variant,,ENST00000422703,;	G	ENST00000338983	Transcript	synonymous_variant	1203/7179	1008/1368	336/455	A	gcA/gcG	rs150222131	1		1	AC013461.1	Clone_based_vega_gene		protein_coding		CCDS2251.1	ENSP00000340257		D4Q8H0	UPI00000709DD	NM_133646.2			12/12																			LOW		SNV	1			1										PASS		rs150222131	.												G	2	3	73	173221170	173221170	A	G	1	0	0	0	0	0	0	0	1	124	117	5	5		5	AC013461.1	2	173221170	Silent	SNP	A	C3N-01074_TP	5976478	173221170	68972359	80	23517											
SP9	0	.	GRCh38	chr2	174337020	174337020	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccacctgcgactgccccaActgccaggaggcggagcggc	7	3	14	17	4	0	0	0	0	0	0	0	3	0	2	5	4	5	0	5	4	1	0	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.935A>C	p.Asn312Thr	p.N312T	ENST00000394967	2/2	119	90	29	177	177	0	strelka-varscan-mutect	SP9,missense_variant,p.Asn312Thr,ENST00000394967,NM_001145250.1;RP11-572N21.1,non_coding_transcript_exon_variant,,ENST00000624790,;	C	ENST00000394967	Transcript	missense_variant	1082/2554	935/1455	312/484	N/T	aAc/aCc		1		1	SP9	HGNC	HGNC:30690	protein_coding	YES	CCDS46453.1	ENSP00000378418	P0CG40		UPI0000EE2E67	NM_001145250.1	deleterious(0)		2/2		hmmpanther:PTHR23235																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	73	174337020	174337020	A	C	1	0	0	0	0	1	0	0	0	15297	43	2	5		5	SP9	2	174337020	Missense_Mutation	SNP	A	C3N-01074_TP	1115850	174337020	67856509	81	23518											
HOXD10	0	.	GRCh38	chr2	176116971	176116971	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcagacatggggacctaTggaatgcaaacctgtggact	12	7	13	9	1	0	1	0	0	0	1	0	4	0	4	2	4	3	2	2	4	3	1			C3N-01074_TP	C3N-01074_NB	T	T																c.138T>A	p.Tyr46Ter	p.Y46*	ENST00000249501	1/2	219	188	31	263	262	1	strelka-varscan-mutect	HOXD10,stop_gained,p.Tyr46Ter,ENST00000249501,NM_002148.3;HOXD-AS2,downstream_gene_variant,,ENST00000440016,;HOXD10,intron_variant,,ENST00000490088,;HOXD10,intron_variant,,ENST00000549469,;	A	ENST00000249501	Transcript	stop_gained	393/1989	138/1023	46/340	Y/*	taT/taA	COSM1669427	1		1	HOXD10	HGNC	HGNC:5133	protein_coding	YES	CCDS2266.1	ENSP00000249501	P28358		UPI000013CC87	NM_002148.3			1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF49											1						HIGH	1	SNV	1		1	1										PASS		rs1171005235	.												A	4	1	73	176116971	176116971	T	A	1	0	0	0	0	0	1	0	0	7213	1471	51	4		4	HOXD10	2	176116971	Nonsense_Mutation	SNP	T	C3N-01074_TP	1779951	176116971	66076558	82	23519											
DNAH7	0	.	GRCh38	chr2	195886238	195886238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattagattcattaaggacCggaccaagtttgtatcggaa	13	12	9	7	2	1	1	1	0	0	1	2	4	1	4	2	3	0	2	2	3	6	6	rs753498231		C3N-01074_TP	C3N-01074_NB	C	C																c.5441G>T	p.Arg1814Leu	p.R1814L	ENST00000312428	34/65	190	156	34	194	193	1	strelka-varscan-mutect	DNAH7,missense_variant,p.Arg1814Leu,ENST00000312428,NM_018897.2;	A	ENST00000312428	Transcript	missense_variant	5542/12394	5441/12075	1814/4024	R/L	cGg/cTg	rs753498231,COSM5025818	1		-1	DNAH7	HGNC	HGNC:18661	protein_coding	YES	CCDS42794.1	ENSP00000311273	Q8WXX0		UPI0000141B95	NM_018897.2	tolerated(0.64)		34/65		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs753498231	.												A	3	1	73	195886238	195886238	C	A	1	0	0	0	0	1	0	0	0	4421	652	23	1		1	DNAH7	2	195886238	Missense_Mutation	SNP	C	C3N-01074_TP	19769267	195886238	46307291	83	23520											
ZDBF2	0	.	GRCh38	chr2	206310120	206310120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactttgatgatgactgtgaGaccaaaaaagtttcttcgaa	14	13	8	6	1	1	4	0	4	1	1	2	6	1	4	1	0	1	1	1	0	5	4	rs750716878		C3N-01074_TP	C3N-01074_NB	G	G																c.5592G>C	p.Glu1864Asp	p.E1864D	ENST00000374423	5/5	203	171	32	278	278	0	strelka-varscan-mutect	ZDBF2,missense_variant,p.Glu1864Asp,ENST00000374423,NM_020923.2;ZDBF2,missense_variant,p.Glu1862Asp,ENST00000611847,NM_001285549.1;	C	ENST00000374423	Transcript	missense_variant	5978/10286	5592/7065	1864/2354	E/D	gaG/gaC	rs750716878	1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2	deleterious(0.05)		5/5		hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	MODERATE	1	SNV	1			1										PASS		rs750716878	.												C	3	2	73	206310120	206310120	G	C	1	0	0	0	0	1	0	0	0	18174	933	33	4		4	ZDBF2	2	206310120	Missense_Mutation	SNP	G	C3N-01074_TP	10423882	206310120	35883409	84	23521											
DYTN	0	.	GRCh38	chr2	206705791	206705791	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcctctgcatgttacctcGgtattttgaaagagggctgt	8	14	11	8	1	1	2	0	1	1	1	3	2	2	2	2	2	2	4	2	2	3	4	rs200713304		C3N-01074_TP	C3N-01074_NB	G	G																c.379C>A	p.=	p.R127R	ENST00000452335	4/12	309	263	46	217	217	0	strelka-varscan-mutect	DYTN,synonymous_variant,p.=,ENST00000452335,NM_001093730.1;Y_RNA,upstream_gene_variant,,ENST00000384589,;DYTN,non_coding_transcript_exon_variant,,ENST00000477734,;	T	ENST00000452335	Transcript	synonymous_variant	496/2051	379/1737	127/578	R	Cga/Aga	rs200713304	1		-1	DYTN	HGNC	HGNC:23279	protein_coding	YES	CCDS46502.1	ENSP00000396593	A2CJ06		UPI0000EE0AB9	NM_001093730.1			4/12		hmmpanther:PTHR11915:SF282,hmmpanther:PTHR11915,Gene3D:1.10.238.10,Pfam_domain:PF09069,Superfamily_domains:SSF47473																	LOW	1	SNV	1			1										PASS		rs200713304	.												T	2	4	73	206705791	206705791	G	T	1	0	0	0	0	0	0	0	1	4684	1130	39	1		1	DYTN	2	206705791	Silent	SNP	G	C3N-01074_TP	395671	206705791	35487738	85	23522											
SPEG	0	.	GRCh38	chr2	219435150	219435150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggcggtgtgcgcgggcaGcgacgtgcggctgcgggtgg	2	5	23	11	9	0	0	0	0	0	0	0	1	0	0	0	6	4	2	0	6	0	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.173G>A	p.Ser58Asn	p.S58N	ENST00000312358	1/41	208	172	36	206	206	0	strelka-varscan-mutect	SPEG,missense_variant,p.Ser58Asn,ENST00000312358,NM_005876.4;SPEG,upstream_gene_variant,,ENST00000498378,;	A	ENST00000312358	Transcript	missense_variant	305/10782	173/9804	58/3267	S/N	aGc/aAc		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	tolerated(0.1)		1/41		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	219435150	219435150	G	A	1	0	0	0	0	1	0	0	0	15387	971	34	3		3	SPEG	2	219435150	Missense_Mutation	SNP	G	C3N-01074_TP	12729359	219435150	22758379	86	23523											
NMUR1	0	.	GRCh38	chr2	231528529	231528529	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctggcctggagtgggtgCaccacggccacatagcgttc	7	7	14	13	2	0	0	0	0	0	0	1	2	0	1	4	4	2	2	4	4	1	2	rs780891109		C3N-01074_TP	C3N-01074_NB	C	C																c.492G>T	p.=	p.V164V	ENST00000305141	2/3	181	111	70	186	186	0	strelka-varscan-mutect	NMUR1,synonymous_variant,p.=,ENST00000305141,NM_006056.4;	A	ENST00000305141	Transcript	synonymous_variant	626/3298	492/1281	164/426	V	gtG/gtT	rs780891109	1		-1	NMUR1	HGNC	HGNC:4518	protein_coding	YES	CCDS2486.1	ENSP00000305877	Q9HB89		UPI0000071CAE	NM_006056.4			2/3		PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF109,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		rs780891109	.												A	2	1	73	231528529	231528529	C	A	1	0	0	0	0	0	0	0	1	10547	697	25	2		2	NMUR1	2	231528529	Silent	SNP	C	C3N-01074_TP	12093379	231528529	10665000	87	23524											
MROH2A	0	.	GRCh38	chr2	233804136	233804136	+	Missense_Mutation	SNP	C	C	A																															cctgagccagagcatcgcacCctccatggccgacatgtggg																								novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1844C>A	p.Pro615His	p.P615H	ENST00000610772	17/42	281	252	29	206	205	1	strelka-varscan-mutect	MROH2A,missense_variant,p.Pro612His,ENST00000389758,;MROH2A,missense_variant,p.Pro615His,ENST00000610772,NM_001287395.1;MROH2A,downstream_gene_variant,,ENST00000477506,;	A	ENST00000610772	Transcript	missense_variant	1937/5324	1844/5067	615/1688	P/H	cCc/cAc		1		1	MROH2A	HGNC	HGNC:27936	protein_coding	YES	CCDS74674.1	ENSP00000477597		A0A087WT58	UPI00021AED4F	NM_001287395.1	deleterious(0)		17/42		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		rs1194768049	.												A	3	1	73	233804136	233804136	C	A	1	0	0	0	0	1	0	0	0	9744	623	22	2		2	MROH2A	2	233804136	Missense_Mutation	SNP	C	C3N-01074_TP	2275607	233804136	8389393	88	23525	494	2									
MROH2A	0	.	GRCh38	chr2	233804137	233804137	+	Silent	SNP	C	C	T																															ctgagccagagcatcgcaccCtccatggccgacatgtggga																								novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1845C>T	p.=	p.P615P	ENST00000610772	17/42	282	253	29	204	203	1	strelka-varscan-mutect	MROH2A,synonymous_variant,p.=,ENST00000389758,;MROH2A,synonymous_variant,p.=,ENST00000610772,NM_001287395.1;MROH2A,downstream_gene_variant,,ENST00000477506,;	T	ENST00000610772	Transcript	synonymous_variant	1938/5324	1845/5067	615/1688	P	ccC/ccT		1		1	MROH2A	HGNC	HGNC:27936	protein_coding	YES	CCDS74674.1	ENSP00000477597		A0A087WT58	UPI00021AED4F	NM_001287395.1			17/42		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14,Superfamily_domains:SSF48371																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	73	233804137	233804137	C	T	1	0	0	0	0	0	0	0	1	9744	668	24	3		3	MROH2A	2	233804137	Silent	SNP	C	C3N-01074_TP	1	233804137	8389392	89	23526	494	2									
MROH2A	0	.	GRCh38	chr2	233829072	233829072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggatcttcttcgacaaCgtgagtccgatgagagcctc	9	10	11	11	3	2	2	0	2	2	1	5	6	3	3	2	1	3	1	2	1	1	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.4488C>A	p.Asn1496Lys	p.N1496K	ENST00000610772	37/42	51	35	16	76	76	0	strelka-varscan-mutect	MROH2A,missense_variant,p.Asn1482Lys,ENST00000389758,;MROH2A,missense_variant,p.Asn1496Lys,ENST00000610772,NM_001287395.1;MROH2A,splice_region_variant,,ENST00000487979,;HJURP,downstream_gene_variant,,ENST00000433484,;	A	ENST00000610772	Transcript	missense_variant,splice_region_variant	4581/5324	4488/5067	1496/1688	N/K	aaC/aaA		1		1	MROH2A	HGNC	HGNC:27936	protein_coding	YES	CCDS74674.1	ENSP00000477597		A0A087WT58	UPI00021AED4F	NM_001287395.1	deleterious(0.02)		37/42		Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	233829072	233829072	C	A	1	0	0	0	0	1	0	0	0	9744	550	19	1		1	MROH2A	2	233829072	Missense_Mutation	SNP	C	C3N-01074_TP	24935	233829072	8364457	90	23527											
KIF1A	0	.	GRCh38	chr2	240758444	240758444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagtcctcgatgacactgGagggcacctctgcagcgcgg	8	6	13	14	3	1	1	0	1	1	0	3	3	2	2	2	3	2	2	2	3	0	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.2498C>A	p.Ser833Tyr	p.S833Y	ENST00000498729	26/49	119	95	24	114	114	0	strelka-varscan-mutect	KIF1A,missense_variant,p.Ser833Tyr,ENST00000498729,NM_001244008.1;KIF1A,missense_variant,p.Ser824Tyr,ENST00000320389,NM_004321.6;KIF1A,missense_variant,p.Ser833Tyr,ENST00000404283,;	T	ENST00000498729	Transcript	missense_variant	2745/9223	2498/5376	833/1791	S/Y	tCc/tAc		1		-1	KIF1A	HGNC	HGNC:888	protein_coding	YES	CCDS58757.1	ENSP00000438388	Q12756		UPI0002065B81	NM_001244008.1	deleterious(0)		26/49		Pfam_domain:PF12423,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF361																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	240758444	240758444	G	T	1	0	0	0	0	1	0	0	0	8147	1174	41	2		2	KIF1A	2	240758444	Missense_Mutation	SNP	G	C3N-01074_TP	6929372	240758444	1435085	91	23528											
PASK	0	.	GRCh38	chr2	241124027	241124027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggcaaggaacaggcgggtCctggcggctgagtcgcgttg	6	7	18	10	4	0	1	0	1	0	0	2	2	1	2	1	6	1	3	1	6	2	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2826G>T	p.Arg942Ser	p.R942S	ENST00000358649	11/18	361	294	67	342	342	0	strelka-varscan-mutect	PASK,missense_variant,p.Arg942Ser,ENST00000403638,NM_001252124.1;PASK,missense_variant,p.Arg942Ser,ENST00000405260,;PASK,missense_variant,p.Arg942Ser,ENST00000544142,NM_001252120.1;PASK,missense_variant,p.Arg942Ser,ENST00000234040,NM_015148.3,NM_001252122.1;PASK,missense_variant,p.Arg942Ser,ENST00000358649,NM_001252119.1;PASK,downstream_gene_variant,,ENST00000459710,;PASK,non_coding_transcript_exon_variant,,ENST00000493544,;	A	ENST00000358649	Transcript	missense_variant	2890/4326	2826/3993	942/1330	R/S	agG/agT		1		-1	PASK	HGNC	HGNC:17270	protein_coding	YES	CCDS58759.1	ENSP00000351475	Q96RG2		UPI0000456F4C	NM_001252119.1	deleterious(0.02)		11/18		hmmpanther:PTHR22971,hmmpanther:PTHR22971:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	241124027	241124027	C	A	1	0	0	0	0	1	0	0	0	11553	854	30	2		2	PASK	2	241124027	Missense_Mutation	SNP	C	C3N-01074_TP	365583	241124027	1069502	92	23529											
ITPR1	0	.	GRCh38	chr3	4645665	4645665	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcagcacgtcttcctGagaaccacgggccggcagtc	11	5	12	13	3	1	2	0	1	1	2	3	3	2	2	3	2	3	3	3	2	3	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.792G>T	p.=	p.L264L	ENST00000302640	10/61	170	106	64	189	187	2	strelka-varscan-mutect	ITPR1,synonymous_variant,p.=,ENST00000354582,;ITPR1,synonymous_variant,p.=,ENST00000302640,NM_001168272.1;ITPR1,synonymous_variant,p.=,ENST00000357086,NM_001099952.2;ITPR1,synonymous_variant,p.=,ENST00000456211,NM_002222.5;ITPR1,synonymous_variant,p.=,ENST00000443694,;ITPR1,synonymous_variant,p.=,ENST00000544951,;ITPR1,non_coding_transcript_exon_variant,,ENST00000477577,;ITPR1,non_coding_transcript_exon_variant,,ENST00000467056,;	T	ENST00000302640	Transcript	synonymous_variant	1142/10197	792/8232	264/2743	L	ctG/ctT		1		1	ITPR1	HGNC	HGNC:6180	protein_coding	YES	CCDS54551.1	ENSP00000306253	Q14643		UPI0000E5A461	NM_001168272.1			10/61		PROSITE_profiles:PS50919,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF52,Pfam_domain:PF02815,Gene3D:2.80.10.50,SMART_domains:SM00472,Superfamily_domains:SSF82109																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	73	4645665	4645665	G	T	1	0	0	0	0	0	0	0	1	7826	1277	45	2		2	ITPR1	3	4645665	Silent	SNP	G	C3N-01074_TP		4645665	193649894	93	23530											
SETD5	0	.	GRCh38	chr3	9434860	9434860	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggttattagacttcatcgGcggaagcaggacaacatatc	14	9	10	8	2	1	1	1	0	0	1	3	3	1	3	0	4	2	2	0	4	6	4	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.366G>T	p.=	p.R122R	ENST00000402198	6/23	137	79	58	108	108	0	strelka-varscan-mutect	SETD5,synonymous_variant,p.=,ENST00000402198,NM_001080517.2;SETD5,synonymous_variant,p.=,ENST00000406341,;SETD5,synonymous_variant,p.=,ENST00000407969,;SETD5,synonymous_variant,p.=,ENST00000302463,NM_001292043.1;SETD5,synonymous_variant,p.=,ENST00000450326,;SETD5,synonymous_variant,p.=,ENST00000442373,;SETD5,non_coding_transcript_exon_variant,,ENST00000490791,;SETD5,downstream_gene_variant,,ENST00000478475,;SETD5,downstream_gene_variant,,ENST00000466172,;SETD5,3_prime_UTR_variant,,ENST00000443339,;SETD5,3_prime_UTR_variant,,ENST00000431285,;SETD5,non_coding_transcript_exon_variant,,ENST00000493918,;SETD5,downstream_gene_variant,,ENST00000415650,;	T	ENST00000402198	Transcript	synonymous_variant	801/6827	366/4329	122/1442	R	cgG/cgT		1		1	SETD5	HGNC	HGNC:25566	protein_coding	YES	CCDS46741.1	ENSP00000385852	Q9C0A6		UPI0000411FEE	NM_001080517.2			6/23																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	73	9434860	9434860	G	T	1	0	0	0	0	0	0	0	1	14412	1190	42	2		2	SETD5	3	9434860	Silent	SNP	G	C3N-01074_TP	4789195	9434860	188860699	94	23531											
FGD5	0	.	GRCh38	chr3	14820554	14820554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtggccggctatgtcccaGaaaccgtccctgaagaaacc	11	6	11	13	2	0	3	0	1	0	2	2	3	2	3	5	3	2	1	5	3	4	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1483G>C	p.Glu495Gln	p.E495Q	ENST00000285046	1/20	81	45	36	116	116	0	strelka-varscan-mutect	FGD5,missense_variant,p.Glu254Gln,ENST00000543601,NM_001320276.1;FGD5,missense_variant,p.Glu495Gln,ENST00000285046,NM_152536.3;FGD5,upstream_gene_variant,,ENST00000457774,;	C	ENST00000285046	Transcript	missense_variant	1593/5720	1483/4389	495/1462	E/Q	Gaa/Caa		1		1	FGD5	HGNC	HGNC:19117	protein_coding	YES	CCDS46767.1	ENSP00000285046	Q6ZNL6		UPI00002372AE	NM_152536.3	deleterious(0)		1/20		Low_complexity_(Seg):seg,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	73	14820554	14820554	G	C	1	0	0	0	0	1	0	0	0	5700	943	33	4		4	FGD5	3	14820554	Missense_Mutation	SNP	G	C3N-01074_TP	5385694	14820554	183475005	95	23532											
TRANK1	0	.	GRCh38	chr3	36846380	36846380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgtgatggcggtgtacaGctgcttcagctctccgttga	5	12	13	11	3	2	2	1	2	1	0	3	2	2	2	2	2	4	5	2	2	1	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.4927C>A	p.Leu1643Met	p.L1643M	ENST00000429976	16/23	149	81	68	177	177	0	strelka-varscan-mutect	TRANK1,missense_variant,p.Leu1643Met,ENST00000429976,NM_014831.2;TRANK1,non_coding_transcript_exon_variant,,ENST00000463984,;	T	ENST00000429976	Transcript	missense_variant	5175/10481	4927/8778	1643/2925	L/M	Ctg/Atg		1		-1	TRANK1	HGNC	HGNC:29011	protein_coding	YES	CCDS46789.2	ENSP00000416168	O15050		UPI00017BE82B	NM_014831.2	deleterious(0)		16/23		hmmpanther:PTHR21529,hmmpanther:PTHR21529:SF4,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	73	36846380	36846380	G	T	1	0	0	0	0	1	0	0	0	16937	962	34	2		2	TRANK1	3	36846380	Missense_Mutation	SNP	G	C3N-01074_TP	22025826	36846380	161449179	96	23533											
STAB1	0	.	GRCh38	chr3	52512839	52512839	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgcagagtgccggcatCacgcttcctgccgaccgccg	5	7	13	16	6	1	1	1	0	0	1	2	2	2	1	5	1	4	3	5	1	0	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.3039C>A	p.=	p.I1013I	ENST00000321725	29/69	131	61	70	146	146	0	strelka-varscan-mutect	STAB1,synonymous_variant,p.=,ENST00000321725,NM_015136.2;STAB1,upstream_gene_variant,,ENST00000461325,;STAB1,downstream_gene_variant,,ENST00000481607,;STAB1,downstream_gene_variant,,ENST00000484850,;	A	ENST00000321725	Transcript	synonymous_variant	3115/7928	3039/7713	1013/2570	I	atC/atA		1		1	STAB1	HGNC	HGNC:18628	protein_coding	YES	CCDS33768.1	ENSP00000312946	Q9NY15		UPI0000140C12	NM_015136.2			29/69		Gene3D:2.30.180.10,Pfam_domain:PF02469,PROSITE_profiles:PS50213,hmmpanther:PTHR24038,hmmpanther:PTHR24038:SF2,Superfamily_domains:SSF82153																	LOW	1	SNV	1			1										PASS		rs1370451793	.												A	2	1	73	52512839	52512839	C	A	1	0	0	0	0	0	0	0	1	15615	816	29	2		2	STAB1	3	52512839	Silent	SNP	C	C3N-01074_TP	15666459	52512839	145782720	97	23534											
IL17RD	0	.	GRCh38	chr3	57101317	57101317	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggagtgctgcagtgtaTgtggaagactcagagctctc	8	11	14	8	0	2	2	1	0	1	2	3	4	2	4	0	2	3	4	0	2	2	2	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.1026A>G	p.=	p.T342T	ENST00000296318	11/13	167	108	59	228	228	0	strelka-varscan-mutect	IL17RD,synonymous_variant,p.=,ENST00000296318,NM_001318864.1,NM_017563.3;IL17RD,synonymous_variant,p.=,ENST00000320057,;IL17RD,synonymous_variant,p.=,ENST00000463523,;IL17RD,downstream_gene_variant,,ENST00000467210,;IL17RD,non_coding_transcript_exon_variant,,ENST00000469841,;	C	ENST00000296318	Transcript	synonymous_variant	1115/8720	1026/2220	342/739	T	acA/acG		1		-1	IL17RD	HGNC	HGNC:17616	protein_coding	YES	CCDS2880.2	ENSP00000296318	Q8NFM7		UPI0000047CC3	NM_001318864.1,NM_017563.3			11/13		hmmpanther:PTHR15583:SF14,hmmpanther:PTHR15583																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	73	57101317	57101317	T	C	1	0	0	0	0	0	0	0	1	7550	1451	51	5		5	IL17RD	3	57101317	Silent	SNP	T	C3N-01074_TP	4588478	57101317	141194242	98	23535											
LRIG1	0	.	GRCh38	chr3	66380667	66380667	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcgacccttggcactcggGgcaggacccagcggcagtcc	7	4	15	15	3	0	0	0	0	0	0	2	3	1	1	3	5	2	3	3	5	0	1	rs751112607		C3N-01074_TP	C3N-01074_NB	G	G																c.2965C>G	p.Pro989Ala	p.P989A	ENST00000273261	18/19	318	185	133	384	383	1	strelka-varscan-mutect	LRIG1,missense_variant,p.Pro966Ala,ENST00000383703,;LRIG1,missense_variant,p.Pro989Ala,ENST00000273261,NM_015541.2;SLC25A26,downstream_gene_variant,,ENST00000354883,NM_173471.3;SLC25A26,downstream_gene_variant,,ENST00000413054,;SLC25A26,downstream_gene_variant,,ENST00000336733,NM_001164796.1;LRIG1,non_coding_transcript_exon_variant,,ENST00000496559,;LRIG1,non_coding_transcript_exon_variant,,ENST00000495037,;SLC25A26,3_prime_UTR_variant,,ENST00000464350,;SLC25A26,downstream_gene_variant,,ENST00000483224,;	C	ENST00000273261	Transcript	missense_variant	3490/5273	2965/3282	989/1093	P/A	Ccc/Gcc	rs751112607	1		-1	LRIG1	HGNC	HGNC:17360	protein_coding	YES	CCDS33783.1	ENSP00000273261	Q96JA1		UPI000004C5BE	NM_015541.2	tolerated(1)		18/19																			MODERATE	1	SNV	1			1										PASS		rs751112607	.												C	3	2	73	66380667	66380667	G	C	1	0	0	0	0	1	0	0	0	8839	1232	43	4		4	LRIG1	3	66380667	Missense_Mutation	SNP	G	C3N-01074_TP	9279350	66380667	131914892	99	23536											
BOC	0	.	GRCh38	chr3	113284350	113284350	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaacatacaacagaccTgggttttcctcgaagtgccc	11	9	8	13	1	0	2	0	0	0	2	3	3	2	2	4	1	4	1	4	1	4	3	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.2672T>A	p.Leu891Gln	p.L891Q	ENST00000273395	17/20	155	82	73	188	187	1	strelka-varscan-mutect	BOC,missense_variant,p.Leu890Gln,ENST00000495514,NM_033254.3;BOC,missense_variant,p.Leu890Gln,ENST00000355385,;BOC,missense_variant,p.Leu891Gln,ENST00000273395,NM_001301861.1;BOC,upstream_gene_variant,,ENST00000473008,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;CFAP44,downstream_gene_variant,,ENST00000489244,;BOC,downstream_gene_variant,,ENST00000463971,;BOC,upstream_gene_variant,,ENST00000488486,;	A	ENST00000273395	Transcript	missense_variant	3011/4276	2672/3348	891/1115	L/Q	cTg/cAg		1		1	BOC	HGNC	HGNC:17173	protein_coding	YES	CCDS77788.1	ENSP00000273395	Q9BWV1		UPI0000D61B53	NM_001301861.1	deleterious(0.01)		17/20		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF11																	MODERATE	1	SNV	1			1										PASS		rs1379277969	.												A	3	1	73	113284350	113284350	T	A	1	0	0	0	0	1	0	0	0	1637	1580	55	4		4	BOC	3	113284350	Missense_Mutation	SNP	T	C3N-01074_TP	46903683	113284350	85011209	100	23537											
SI	0	.	GRCh38	chr3	165032558	165032558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagtgaaattggaatgagcGttcattggttgattattttc	11	17	10	3	1	1	3	1	3	0	0	2	4	1	4	0	2	1	2	0	2	4	8	rs752079960		C3N-01074_TP	C3N-01074_NB	G	G																c.2700C>A	p.Asn900Lys	p.N900K	ENST00000264382	24/48	162	95	67	188	188	0	strelka-varscan	SI,missense_variant,p.Asn900Lys,ENST00000264382,NM_001041.3;	T	ENST00000264382	Transcript	missense_variant	2763/6011	2700/5484	900/1827	N/K	aaC/aaA	rs752079960	1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	tolerated(0.91)		24/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	165032558	165032558	G	T	1	0	0	0	0	1	0	0	0	14561	1136	40	1		1	SI	3	165032558	Missense_Mutation	SNP	G	C3N-01074_TP	51748208	165032558	33263001	101	23538											
FGF12	0	.	GRCh38	chr3	192144038	192144038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgattcacaactttgcCtccattcatggttggtgttc	7	17	7	10	0	3	1	2	1	1	0	5	1	4	1	2	2	2	2	2	2	1	6	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.703G>T	p.Gly235Cys	p.G235C	ENST00000454309	5/5	241	143	98	294	293	1	strelka-varscan	FGF12,missense_variant,p.Gly173Cys,ENST00000445105,NM_004113.5;FGF12,missense_variant,p.Gly235Cys,ENST00000454309,NM_021032.4;FGF12,missense_variant,p.Gly173Cys,ENST00000450716,;FGF12,missense_variant,p.Gly136Cys,ENST00000430714,;FGF12,downstream_gene_variant,,ENST00000448795,;FGF12,non_coding_transcript_exon_variant,,ENST00000440901,;	A	ENST00000454309	Transcript	missense_variant	1529/3058	703/732	235/243	G/C	Ggc/Tgc		1		-1	FGF12	HGNC	HGNC:3668	protein_coding	YES	CCDS3301.1	ENSP00000413496	P61328		UPI0000003FDD	NM_021032.4	deleterious(0)		5/5		hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	192144038	192144038	C	A	1	0	0	0	0	1	0	0	0	5705	681	24	2		2	FGF12	3	192144038	Missense_Mutation	SNP	C	C3N-01074_TP	27111480	192144038	6151521	102	23539											
CPN2	0	.	GRCh38	chr3	194341456	194341456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctggatgttcaggagcCgatcggtgtactgctgcagc	7	10	15	9	2	2	0	1	0	1	0	3	3	2	2	1	4	5	4	1	4	1	2	rs183919676		C3N-01074_TP	C3N-01074_NB	C	C																c.1247G>T	p.Arg416Leu	p.R416L	ENST00000323830	2/2	238	138	100	274	273	1	strelka-varscan	CPN2,missense_variant,p.Arg416Leu,ENST00000323830,NM_001291988.1,NM_001080513.3;CPN2,missense_variant,p.Arg416Leu,ENST00000429275,;	A	ENST00000323830	Transcript	missense_variant	1337/3028	1247/1638	416/545	R/L	cGg/cTg	rs183919676	1		-1	CPN2	HGNC	HGNC:2313	protein_coding	YES	CCDS33920.1	ENSP00000319464	P22792		UPI0001AE76B7	NM_001291988.1,NM_001080513.3	tolerated(0.5)		2/2		Gene3D:3.80.10.10,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF278,SMART_domains:SM00082,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	194341456	194341456	C	A	1	0	0	0	0	1	0	0	0	3605	652	23	1		1	CPN2	3	194341456	Missense_Mutation	SNP	C	C3N-01074_TP	2197418	194341456	3954103	103	23540											
NSG1	0	.	GRCh38	chr4	4391511	4391511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccgagtatgaacctgacCgcaagaaagggaaagcacgt	16	4	12	9	3	0	4	0	2	0	2	0	6	0	5	3	1	2	3	3	1	5	1	rs761111231		C3N-01074_TP	C3N-01074_NB	C	C																c.166C>A	p.Arg56Ser	p.R56S	ENST00000421177	7/9	183	92	91	101	101	0	strelka-varscan-mutect	NSG1,missense_variant,p.Arg56Ser,ENST00000421177,;NSG1,missense_variant,p.Arg56Ser,ENST00000513555,;NSG1,missense_variant,p.Arg56Ser,ENST00000397958,NM_001287763.1;NSG1,missense_variant,p.Arg56Ser,ENST00000433139,NM_001287764.1,NM_001040101.1;NSG1,missense_variant,p.Arg56Ser,ENST00000621129,NM_014392.4;NSG1,missense_variant,p.Arg56Ser,ENST00000505246,;NSG1,missense_variant,p.Arg56Ser,ENST00000506380,;NSG1,intron_variant,,ENST00000504171,;NSG1,missense_variant,p.Arg56Ser,ENST00000513829,;	A	ENST00000421177	Transcript	missense_variant	2157/4172	166/558	56/185	R/S	Cgc/Agc	rs761111231	1		1	NSG1	EntrezGene		protein_coding	YES	CCDS3376.1	ENSP00000388823	P42857	B2R5R8	UPI0000130549		tolerated(0.57)		7/9		Pfam_domain:PF06387,PIRSF_domain:PIRSF002383,hmmpanther:PTHR28546																	MODERATE	1	SNV	5			1										PASS		rs761111231	.												A	3	1	73	4391511	4391511	C	A	1	0	0	0	0	1	0	0	0	10732	652	23	1		1	NSG1	4	4391511	Missense_Mutation	SNP	C	C3N-01074_TP		4391511	185823044	104	23541											
PCDH7	0	.	GRCh38	chr4	30723437	30723437	+	Missense_Mutation	SNP	C	C	A																															tgctgacaaggggcggaatgCagagatgagcctgtacatag																								novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2015C>A	p.Ala672Glu	p.A672E	ENST00000543491	1/1	309	275	34	293	292	1	strelka-varscan-mutect	PCDH7,missense_variant,p.Ala362Glu,ENST00000511884,NM_032457.3,NM_001173523.1;PCDH7,missense_variant,p.Ala672Glu,ENST00000361762,NM_002589.2;PCDH7,missense_variant,p.Ala672Glu,ENST00000543491,NM_032456.2;PCDH7,upstream_gene_variant,,ENST00000621961,;PCDH7,upstream_gene_variant,,ENST00000509759,;PCDH7,intron_variant,,ENST00000507864,;	A	ENST00000543491	Transcript	missense_variant	2585/4457	2015/3219	672/1072	A/E	gCa/gAa		1		1	PCDH7	HGNC	HGNC:8659	protein_coding	YES	CCDS75116.1	ENSP00000441802	O60245		UPI00001615DB	NM_032456.2	deleterious(0)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF321,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	73	30723437	30723437	C	A	1	0	0	0	0	1	0	0	0	11603	710	25	2		2	PCDH7	4	30723437	Missense_Mutation	SNP	C	C3N-01074_TP	26331926	30723437	159491118	105	23542	495	2									
PCDH7	0	.	GRCh38	chr4	30723438	30723438	+	Silent	SNP	A	A	G																															gctgacaaggggcggaatgcAgagatgagcctgtacataga																								novel		C3N-01074_TP	C3N-01074_NB	A	A																c.2016A>G	p.=	p.A672A	ENST00000543491	1/1	311	277	34	294	294	0	strelka-varscan-mutect	PCDH7,synonymous_variant,p.=,ENST00000511884,NM_032457.3,NM_001173523.1;PCDH7,synonymous_variant,p.=,ENST00000361762,NM_002589.2;PCDH7,synonymous_variant,p.=,ENST00000543491,NM_032456.2;PCDH7,upstream_gene_variant,,ENST00000621961,;PCDH7,upstream_gene_variant,,ENST00000509759,;PCDH7,intron_variant,,ENST00000507864,;	G	ENST00000543491	Transcript	synonymous_variant	2586/4457	2016/3219	672/1072	A	gcA/gcG		1		1	PCDH7	HGNC	HGNC:8659	protein_coding	YES	CCDS75116.1	ENSP00000441802	O60245		UPI00001615DB	NM_032456.2			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF321,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV				1										PASS		.	.												G	2	3	73	30723438	30723438	A	G	1	0	0	0	0	0	0	0	1	11603	175	7	5		5	PCDH7	4	30723438	Silent	SNP	A	C3N-01074_TP	1	30723438	159491117	106	23543	495	2									
NWD2	0	.	GRCh38	chr4	37445353	37445353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggccaatacctgaacacaaCcaccatatttcatttaggga	14	10	6	11	0	1	1	1	1	0	0	1	2	1	2	4	2	3	0	4	2	6	5	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.3365C>A	p.Thr1122Asn	p.T1122N	ENST00000309447	7/7	494	273	221	411	411	0	strelka-varscan-mutect	NWD2,missense_variant,p.Thr1122Asn,ENST00000309447,NM_001144990.1;	A	ENST00000309447	Transcript	missense_variant	4213/8325	3365/5229	1122/1742	T/N	aCc/aAc		1		1	NWD2	HGNC	HGNC:29229	protein_coding	YES	CCDS47040.1	ENSP00000309501	Q9ULI1		UPI00006C0875	NM_001144990.1	deleterious(0.01)		7/7		hmmpanther:PTHR19857,hmmpanther:PTHR19857:SF18,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	37445353	37445353	C	A	1	0	0	0	0	1	0	0	0	10855	507	18	2		2	NWD2	4	37445353	Missense_Mutation	SNP	C	C3N-01074_TP	6721915	37445353	152769202	107	23544											
LNX1	0	.	GRCh38	chr4	53496099	53496099	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctaacacacggtcattcTcctcaagctgaccatgtcga	10	10	8	13	2	3	1	2	1	1	0	5	2	3	1	2	2	2	2	2	2	2	2	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.1274A>T	p.Glu425Val	p.E425V	ENST00000263925	6/11	249	157	92	254	254	0	strelka-varscan-mutect	LNX1,missense_variant,p.Glu329Val,ENST00000306888,NM_032622.2;LNX1,missense_variant,p.Glu425Val,ENST00000263925,NM_001126328.2;RP11-231C18.3,intron_variant,,ENST00000507166,;LNX1-AS1,upstream_gene_variant,,ENST00000510785,;LNX1-AS1,upstream_gene_variant,,ENST00000502373,;LNX1,downstream_gene_variant,,ENST00000511398,;	A	ENST00000263925	Transcript	missense_variant	1589/2953	1274/2187	425/728	E/V	gAg/gTg		1		-1	LNX1	HGNC	HGNC:6657	protein_coding	YES	CCDS47057.1	ENSP00000263925	Q8TBB1		UPI000012E7A6	NM_001126328.2	tolerated(0.28)		6/11		PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF14,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	53496099	53496099	T	A	1	0	0	0	0	1	0	0	0	8792	1551	54	4		4	LNX1	4	53496099	Missense_Mutation	SNP	T	C3N-01074_TP	16050746	53496099	136718456	108	23545											
KIAA1211	0	.	GRCh38	chr4	56307669	56307669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaaattgtgactcagcaGgacatcgtcctctcagacgc	11	9	10	11	2	2	2	2	1	1	1	5	4	3	4	1	2	1	1	1	2	1	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.255G>T	p.Gln85His	p.Q85H	ENST00000504228	3/9	210	151	59	215	214	1	strelka-varscan-mutect	KIAA1211,missense_variant,p.Gln85His,ENST00000504228,;KIAA1211,missense_variant,p.Gln78His,ENST00000541073,;KIAA1211,missense_variant,p.Gln85His,ENST00000264229,NM_020722.1;KIAA1211,missense_variant,p.Gln85His,ENST00000636006,;KIAA1211,upstream_gene_variant,,ENST00000505410,;KIAA1211,downstream_gene_variant,,ENST00000503618,;	T	ENST00000504228	Transcript	missense_variant	360/4628	255/3702	85/1233	Q/H	caG/caT		1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309		deleterious(0)		3/9		Pfam_domain:PF15262																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	73	56307669	56307669	G	T	1	0	0	0	0	1	0	0	0	8107	991	35	2		2	KIAA1211	4	56307669	Missense_Mutation	SNP	G	C3N-01074_TP	2811570	56307669	133906886	109	23546											
TECRL	0	.	GRCh38	chr4	64314733	64314733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaaagaggaggtatattaGcagaggtcctgtgtattcag	14	11	12	4	0	1	2	1	0	0	2	2	3	2	3	1	3	1	3	1	3	6	6	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.466C>A	p.Leu156Ile	p.L156I	ENST00000381210	5/12	299	234	65	321	320	1	strelka-varscan-mutect	TECRL,missense_variant,p.Leu156Ile,ENST00000381210,NM_001010874.4;TECRL,missense_variant,p.Leu156Ile,ENST00000507440,;TECRL,non_coding_transcript_exon_variant,,ENST00000513125,;TECRL,non_coding_transcript_exon_variant,,ENST00000511356,;	T	ENST00000381210	Transcript	missense_variant	577/3573	466/1092	156/363	L/I	Cta/Ata		1		-1	TECRL	HGNC	HGNC:27365	protein_coding	YES	CCDS33990.1	ENSP00000370607	Q5HYJ1		UPI0000141A54	NM_001010874.4	tolerated(0.26)		5/12		hmmpanther:PTHR10556,hmmpanther:PTHR10556:SF27,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	64314733	64314733	G	T	1	0	0	0	0	1	0	0	0	16157	962	34	2		2	TECRL	4	64314733	Missense_Mutation	SNP	G	C3N-01074_TP	8007064	64314733	125899822	110	23547											
GNRHR	0	.	GRCh38	chr4	67754061	67754061	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagtggcatgacaatcAgagtctccaacaggttggct	11	9	10	11	0	2	2	1	1	1	1	4	2	3	2	2	3	1	3	2	3	2	1			C3N-01074_TP	C3N-01074_NB	A	A																c.275T>A	p.Leu92Gln	p.L92Q	ENST00000226413	1/3	477	375	102	518	518	0	strelka-varscan-mutect	GNRHR,missense_variant,p.Leu92Gln,ENST00000226413,NM_000406.2;GNRHR,missense_variant,p.Leu92Gln,ENST00000420975,NM_001012763.1;UBA6-AS1,intron_variant,,ENST00000500538,;UBA6-AS1,intron_variant,,ENST00000502758,;	T	ENST00000226413	Transcript	missense_variant	300/2164	275/987	92/328	L/Q	cTg/cAg	CM119294	1		-1	GNRHR	HGNC	HGNC:4421	protein_coding	YES	CCDS3517.1	ENSP00000226413	P30968		UPI000004EEC8	NM_000406.2	deleterious(0)		1/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF22,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	73	67754061	67754061	A	T	1	0	0	0	0	1	0	0	0	6428	188	7	4		4	GNRHR	4	67754061	Missense_Mutation	SNP	A	C3N-01074_TP	3439328	67754061	122460494	111	23548											
MUC7	0	.	GRCh38	chr4	70481587	70481587	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctccaccagagaccacAgctgccccacccacaccttc	10	5	5	21	0	1	1	1	0	0	1	3	2	2	1	7	0	3	2	7	0	0	1	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.843A>T	p.=	p.T281T	ENST00000413702	4/4	528	418	110	528	527	1	strelka-varscan-mutect	MUC7,synonymous_variant,p.=,ENST00000413702,NM_001145006.1;MUC7,synonymous_variant,p.=,ENST00000456088,NM_001145007.1;MUC7,synonymous_variant,p.=,ENST00000304887,NM_152291.2;MUC7,downstream_gene_variant,,ENST00000505411,;MUC7,downstream_gene_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,;	T	ENST00000413702	Transcript	synonymous_variant	1131/2540	843/1134	281/377	T	acA/acT		1		1	MUC7	HGNC	HGNC:7518	protein_coding	YES	CCDS3541.1	ENSP00000407422	Q8TAX7		UPI000013E9DD	NM_001145006.1			4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR41683:SF1,hmmpanther:PTHR41683																	LOW	1	SNV	4			1										PASS		.	.												T	2	4	73	70481587	70481587	A	T	1	0	0	0	0	0	0	0	1	9981	175	7	4		4	MUC7	4	70481587	Silent	SNP	A	C3N-01074_TP	2727526	70481587	119732968	112	23549											
PPEF2	0	.	GRCh38	chr4	75876401	75876401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accaggaggcctgcttgctgCcggcaccgctctagctccag	6	7	12	16	2	1	0	0	0	1	0	2	1	2	1	5	3	4	5	5	3	1	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1206G>A	p.=	p.R402R	ENST00000286719	11/17	187	139	48	179	178	1	strelka-varscan-mutect	PPEF2,synonymous_variant,p.=,ENST00000286719,NM_006239.2;PPEF2,synonymous_variant,p.=,ENST00000621010,;PPEF2,3_prime_UTR_variant,,ENST00000511880,;	T	ENST00000286719	Transcript	synonymous_variant	1563/3414	1206/2262	402/753	R	cgG/cgA		1		-1	PPEF2	HGNC	HGNC:9244	protein_coding	YES	CCDS34013.1	ENSP00000286719	O14830		UPI0000163923	NM_006239.2			11/17		PIRSF_domain:PIRSF000912,SMART_domains:SM00156																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	73	75876401	75876401	C	T	1	0	0	0	0	0	0	0	1	12417	726	26	3		3	PPEF2	4	75876401	Silent	SNP	C	C3N-01074_TP	5394814	75876401	114338154	113	23550											
SDAD1	0	.	GRCh38	chr4	75990758	75990758	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccgcactcccacctcctcGatgtaggccggcgggtctcg	4	7	12	18	6	1	0	0	0	1	0	5	1	3	0	5	3	0	2	5	3	1	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.84C>T	p.=	p.I28I	ENST00000356260	1/22	396	311	85	478	478	0	strelka-varscan-mutect	SDAD1,synonymous_variant,p.=,ENST00000356260,NM_001288984.1,NM_018115.3;SDAD1,synonymous_variant,p.=,ENST00000395711,NM_001288983.1;AC112719.1,upstream_gene_variant,,ENST00000629900,;RP11-630D6.5,intron_variant,,ENST00000501239,;SDAD1,non_coding_transcript_exon_variant,,ENST00000504975,;SDAD1,synonymous_variant,p.=,ENST00000395710,;SDAD1,synonymous_variant,p.=,ENST00000503411,;SDAD1,5_prime_UTR_variant,,ENST00000514710,;	A	ENST00000356260	Transcript	synonymous_variant	203/3017	84/2064	28/687	I	atC/atT		1		-1	SDAD1	HGNC	HGNC:25537	protein_coding	YES	CCDS3573.2	ENSP00000348596	Q9NVU7		UPI000020B02A	NM_001288984.1,NM_018115.3			1/22		hmmpanther:PTHR12730:SF0,hmmpanther:PTHR12730																	LOW	1	SNV	1			1										PASS		rs1314455737	.												A	2	1	73	75990758	75990758	G	A	1	0	0	0	0	0	0	0	1	14222	1048	37	1		1	SDAD1	4	75990758	Silent	SNP	G	C3N-01074_TP	114357	75990758	114223797	114	23551											
HPSE	0	.	GRCh38	chr4	83322335	83322335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaggtacgcaggagacaagCctctggccaaggtacgaagc	12	5	13	11	2	2	1	1	0	1	1	2	3	2	1	2	4	4	3	2	4	5	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.257G>T	p.Gly86Val	p.G86V	ENST00000405413	3/13	152	116	36	177	177	0	strelka-varscan-mutect	HPSE,missense_variant,p.Gly86Val,ENST00000405413,NM_006665.5;HPSE,missense_variant,p.Gly86Val,ENST00000311412,NM_001098540.2;HPSE,missense_variant,p.Gly86Val,ENST00000512196,NM_001166498.2;HPSE,missense_variant,p.Gly86Val,ENST00000513463,NM_001199830.1;HPSE,missense_variant,p.Gly86Val,ENST00000509906,;HPSE,missense_variant,p.Gly86Val,ENST00000507150,;HPSE,missense_variant,p.Gly86Val,ENST00000508891,;	A	ENST00000405413	Transcript	missense_variant	394/4652	257/1632	86/543	G/V	gGc/gTc		1		-1	HPSE	HGNC	HGNC:5164	protein_coding	YES	CCDS3602.1	ENSP00000384262	Q9Y251		UPI000013F168	NM_006665.5	deleterious(0)		3/13		hmmpanther:PTHR14363,hmmpanther:PTHR14363:SF10,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		rs1184183162	.												A	3	1	73	83322335	83322335	C	A	1	0	0	0	0	1	0	0	0	7239	739	26	2		2	HPSE	4	83322335	Missense_Mutation	SNP	C	C3N-01074_TP	7331577	83322335	106892220	115	23552											
RP11-766F14.2	0	.	GRCh38	chr4	99653207	99653207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgccaggcccagtgggtGggggagtggggccactgtca	6	6	19	10	0	1	0	1	0	0	0	1	1	1	1	3	6	1	0	3	6	0	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1442C>A	p.Pro481Gln	p.P481Q	ENST00000511828	1/2	91	71	20	131	130	1	strelka-varscan-mutect	RP11-766F14.2,missense_variant,p.Pro481Gln,ENST00000511828,;	T	ENST00000511828	Transcript	missense_variant	1442/10086	1442/5382	481/1793	P/Q	cCa/cAa		1		-1	RP11-766F14.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000427555		D6RIA3	UPI0001D3B6FE		tolerated_low_confidence(0.1)		1/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1372708334	.												T	3	4	73	99653207	99653207	G	T	1	0	0	0	0	1	0	0	0	13762	1348	47	2		2	RP11-766F14.2	4	99653207	Missense_Mutation	SNP	G	C3N-01074_TP	16330872	99653207	90561348	116	23553											
TACR3	0	.	GRCh38	chr4	103719584	103719584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caactgcccccgtggccgccCcggcagctagcgaggcggtc	5	4	14	18	5	0	0	0	0	0	0	1	1	0	0	5	4	4	2	5	4	2	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.92G>T	p.Gly31Val	p.G31V	ENST00000304883	1/5	72	59	13	114	113	1	strelka-varscan-mutect	TACR3,missense_variant,p.Gly31Val,ENST00000304883,NM_001059.2;	A	ENST00000304883	Transcript	missense_variant	233/5190	92/1398	31/465	G/V	gGg/gTg		1		-1	TACR3	HGNC	HGNC:11528	protein_coding	YES	CCDS3664.1	ENSP00000303325	P29371		UPI0000050413	NM_001059.2	deleterious_low_confidence(0.01)		1/5		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	103719584	103719584	C	A	1	0	0	0	0	1	0	0	0	15903	623	22	2		2	TACR3	4	103719584	Missense_Mutation	SNP	C	C3N-01074_TP	4066377	103719584	86494971	117	23554											
PITX2	0	.	GRCh38	chr4	110618479	110618479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacagggggttgacgttCatagagttgaagaaggggaa	13	8	17	3	1	1	5	1	3	0	2	1	7	1	6	0	4	0	3	0	4	4	4			C3N-01074_TP	C3N-01074_NB	C	C																c.621G>T	p.Met207Ile	p.M207I	ENST00000306732	3/3	155	116	39	185	185	0	strelka-varscan-mutect	PITX2,stop_gained,p.Glu132Ter,ENST00000394595,;PITX2,missense_variant,p.Met200Ile,ENST00000354925,NM_001204397.1;PITX2,missense_variant,p.Met200Ile,ENST00000613094,NM_153426.2;PITX2,missense_variant,p.Met154Ile,ENST00000616641,NM_001204399.1,NM_153427.2;PITX2,missense_variant,p.Met207Ile,ENST00000306732,NM_000325.5;PITX2,missense_variant,p.Met154Ile,ENST00000355080,;PITX2,missense_variant,p.Met200Ile,ENST00000394598,;PITX2,missense_variant,p.Met200Ile,ENST00000614423,NM_001204398.1;PITX2,missense_variant,p.Met200Ile,ENST00000511837,;PITX2,downstream_gene_variant,,ENST00000557119,;PITX2,downstream_gene_variant,,ENST00000511990,;PANCR,upstream_gene_variant,,ENST00000503456,;PANCR,upstream_gene_variant,,ENST00000513690,;PITX2,non_coding_transcript_exon_variant,,ENST00000556049,;PITX2,non_coding_transcript_exon_variant,,ENST00000607868,;	A	ENST00000306732	Transcript	missense_variant	1264/2320	621/975	207/324	M/I	atG/atT	COSM398245,COSM398246	1		-1	PITX2	HGNC	HGNC:9005	protein_coding	YES	CCDS3694.1	ENSP00000304169	Q99697		UPI000002B122	NM_000325.5	deleterious(0.03)		3/3		PIRSF_domain:PIRSF000563,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF254											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	73	110618479	110618479	C	A	1	0	0	0	0	1	0	0	0	12051	835	29	2		2	PITX2	4	110618479	Missense_Mutation	SNP	C	C3N-01074_TP	6898895	110618479	79596076	118	23555											
ABCE1	0	.	GRCh38	chr4	145109142	145109142	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtaacaggttgcctatcCctcgtccaggtgaagttttg	7	14	10	10	1	0	1	0	1	0	0	3	1	2	1	3	2	2	3	3	2	3	6			C3N-01074_TP	C3N-01074_NB	C	C																c.298C>G	p.Pro100Ala	p.P100A	ENST00000296577	5/18	249	209	40	328	328	0	strelka-varscan-mutect	ABCE1,missense_variant,p.Pro100Ala,ENST00000296577,NM_001040876.1,NM_002940.2;ABCE1,missense_variant,p.Pro100Ala,ENST00000502586,;ABCE1,intron_variant,,ENST00000502803,;ABCE1,intron_variant,,ENST00000506506,;OTUD4,downstream_gene_variant,,ENST00000455611,;ABCE1,missense_variant,p.Pro100Ala,ENST00000507193,;ABCE1,missense_variant,p.Pro33Ala,ENST00000504292,;	G	ENST00000296577	Transcript	missense_variant	813/3921	298/1800	100/599	P/A	Cct/Gct	COSM3917220	1		1	ABCE1	HGNC	HGNC:69	protein_coding	YES	CCDS34071.1	ENSP00000296577	P61221		UPI0000001226	NM_001040876.1,NM_002940.2	deleterious(0)		5/18		PROSITE_profiles:PS50893,hmmpanther:PTHR19248,Superfamily_domains:SSF54862											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	73	145109142	145109142	C	G	1	0	0	0	0	1	0	0	0	68	623	22	4		4	ABCE1	4	145109142	Missense_Mutation	SNP	C	C3N-01074_TP	34490663	145109142	45105413	119	23556											
PRMT9	0	.	GRCh38	chr4	147654189	147654189	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacagtattactctgtcCagttccagagctcatctcat	9	14	6	12	0	3	1	2	0	2	1	6	1	5	1	2	0	3	4	2	0	3	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1708G>T	p.Gly570Ter	p.G570*	ENST00000322396	9/12	258	207	51	396	396	0	strelka-varscan-mutect	PRMT9,stop_gained,p.Gly570Ter,ENST00000322396,NM_001304458.1,NM_138364.3;TMEM184C,intron_variant,,ENST00000508208,;PRMT9,3_prime_UTR_variant,,ENST00000514886,;PRMT9,non_coding_transcript_exon_variant,,ENST00000510269,;	A	ENST00000322396	Transcript	stop_gained	1951/3528	1708/2538	570/845	G/*	Gga/Tga		1		-1	PRMT9	HGNC	HGNC:25099	protein_coding	YES	CCDS3771.1	ENSP00000314396	Q6P2P2		UPI000004971D	NM_001304458.1,NM_138364.3			9/12		PROSITE_profiles:PS51678																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	73	147654189	147654189	C	A	1	0	0	0	0	0	1	0	0	12674	603	21	2		2	PRMT9	4	147654189	Nonsense_Mutation	SNP	C	C3N-01074_TP	2545047	147654189	42560366	120	23557											
DCHS2	0	.	GRCh38	chr4	154237040	154237040	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttcatatcttctattcCtatctccactaaagtaagag	12	16	4	9	0	4	1	1	0	3	1	6	1	5	1	2	0	0	2	2	0	6	9	rs773711092		C3N-01074_TP	C3N-01074_NB	C	C																c.6247G>T	p.Gly2083Ter	p.G2083*	ENST00000623607	25/25	267	211	56	391	391	0	strelka-varscan-mutect	DCHS2,stop_gained,p.Gly2083Ter,ENST00000357232,;DCHS2,stop_gained,p.Gly2083Ter,ENST00000623607,NM_017639.3;RP11-9N12.2,non_coding_transcript_exon_variant,,ENST00000625026,;RP11-290O12.2,intron_variant,,ENST00000624941,;RP11-290O12.2,intron_variant,,ENST00000623325,;	A	ENST00000623607	Transcript	stop_gained	6247/8912	6247/8751	2083/2916	G/*	Gga/Tga	rs773711092	1		-1	DCHS2	HGNC	HGNC:23111	protein_coding	YES	CCDS3785.1	ENSP00000485514	Q6V1P9		UPI000035B018	NM_017639.3			25/25		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF305,SMART_domains:SM00112,Superfamily_domains:SSF49313																	HIGH	1	SNV	1			1										PASS		rs773711092	.												A	4	1	73	154237040	154237040	C	A	1	0	0	0	0	0	1	0	0	4091	690	24	2		2	DCHS2	4	154237040	Nonsense_Mutation	SNP	C	C3N-01074_TP	6582851	154237040	35977515	121	23558											
GRIA2	0	.	GRCh38	chr4	157303580	157303580	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttttcgagaggagtctaTgctatttttggattttatga	9	18	10	4	1	1	2	0	1	1	1	2	5	1	4	0	2	1	2	0	2	3	8	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.258T>C	p.=	p.Y86Y	ENST00000296526	3/16	208	155	53	258	258	0	strelka-varscan-mutect	GRIA2,synonymous_variant,p.=,ENST00000296526,NM_000826.3;GRIA2,synonymous_variant,p.=,ENST00000393815,NM_001083620.1;GRIA2,synonymous_variant,p.=,ENST00000264426,NM_001083619.1;GRIA2,synonymous_variant,p.=,ENST00000507898,;GRIA2,synonymous_variant,p.=,ENST00000505888,;GRIA2,synonymous_variant,p.=,ENST00000509417,;GRIA2,synonymous_variant,p.=,ENST00000506284,;GRIA2,5_prime_UTR_variant,,ENST00000503437,;GRIA2,non_coding_transcript_exon_variant,,ENST00000504801,;GRIA2,synonymous_variant,p.=,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;	C	ENST00000296526	Transcript	synonymous_variant	583/5621	258/2652	86/883	Y	taT/taC		1		1	GRIA2	HGNC	HGNC:4572	protein_coding	YES	CCDS3797.1	ENSP00000296526	P42262		UPI000002AA8D	NM_000826.3			3/16		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF206,Superfamily_domains:SSF53822																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	73	157303580	157303580	T	C	1	0	0	0	0	0	0	0	1	6648	1471	51	5		5	GRIA2	4	157303580	Silent	SNP	T	C3N-01074_TP	3066540	157303580	32910975	122	23559											
GPM6A	0	.	GRCh38	chr4	175673745	175673745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagagatctttgatggcccCagttgtgaagaaaccttcca	12	11	9	9	0	1	4	0	2	1	2	2	5	2	4	4	1	1	1	4	1	3	4			C3N-01074_TP	C3N-01074_NB	C	C																c.322G>T	p.Gly108Trp	p.G108W	ENST00000280187	4/8	174	142	32	151	151	0	strelka-varscan-mutect	GPM6A,missense_variant,p.Gly108Trp,ENST00000280187,NM_005277.4;GPM6A,missense_variant,p.Gly108Trp,ENST00000393658,NM_201591.2;GPM6A,missense_variant,p.Gly97Trp,ENST00000506894,NM_201592.2;GPM6A,missense_variant,p.Gly101Trp,ENST00000515090,NM_001261448.1;GPM6A,missense_variant,p.Gly100Trp,ENST00000503397,;GPM6A,missense_variant,p.Gly108Trp,ENST00000513365,;GPM6A,missense_variant,p.Gly45Trp,ENST00000505561,;GPM6A,missense_variant,p.Gly45Trp,ENST00000502754,;GPM6A,missense_variant,p.Gly45Trp,ENST00000512610,;GPM6A,missense_variant,p.Gly45Trp,ENST00000513667,;GPM6A,missense_variant,p.Gly45Trp,ENST00000507520,;GPM6A,missense_variant,p.Gly45Trp,ENST00000512509,;GPM6A,missense_variant,p.Gly45Trp,ENST00000505375,;GPM6A,missense_variant,p.Gly45Trp,ENST00000509865,;GPM6A,downstream_gene_variant,,ENST00000512897,;GPM6A,downstream_gene_variant,,ENST00000507540,;	A	ENST00000280187	Transcript	missense_variant	368/2854	322/837	108/278	G/W	Ggg/Tgg	COSM3602148	1		-1	GPM6A	HGNC	HGNC:4460	protein_coding	YES	CCDS3824.1	ENSP00000280187	P51674		UPI000012EAE1	NM_005277.4	deleterious(0.01)		4/8		hmmpanther:PTHR11683,hmmpanther:PTHR11683:SF4,Pfam_domain:PF01275,Prints_domain:PR00214											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	73	175673745	175673745	C	A	1	0	0	0	0	1	0	0	0	6517	594	21	2		2	GPM6A	4	175673745	Missense_Mutation	SNP	C	C3N-01074_TP	18370165	175673745	14540810	123	23560											
PLEKHG4B	0	.	GRCh38	chr5	174045	174045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcggcagaggtcaagagtgCatggaccgatgtcataggga	11	7	15	8	2	2	2	2	0	0	2	3	5	2	4	1	4	1	2	1	4	2	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.3281C>A	p.Ala1094Glu	p.A1094E	ENST00000283426	16/18	277	232	45	199	198	1	strelka-varscan-mutect	PLEKHG4B,missense_variant,p.Ala1450Glu,ENST00000637938,;PLEKHG4B,missense_variant,p.Ala1094Glu,ENST00000283426,NM_052909.3;PLEKHG4B,non_coding_transcript_exon_variant,,ENST00000504041,;	A	ENST00000283426	Transcript	missense_variant	3331/11515	3281/3816	1094/1271	A/E	gCa/gAa		1		1	PLEKHG4B	HGNC	HGNC:29399	protein_coding	YES	CCDS34124.1	ENSP00000283426	Q96PX9		UPI0000D615EE	NM_052909.3	deleterious(0)		16/18		Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF119,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	174045	174045	C	A	1	0	0	0	0	1	0	0	0	12165	710	25	2		2	PLEKHG4B	5	174045	Missense_Mutation	SNP	C	C3N-01074_TP		174045	181364214	124	23561											
SDHA	0	.	GRCh38	chr5	251428	251428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctacggagcagaggcacGgaaggagtcacggggcgcgc	10	3	17	11	5	2	1	1	0	1	1	2	4	2	4	0	6	2	2	0	6	2	1	rs752360961		C3N-01074_TP	C3N-01074_NB	G	G																c.1754G>T	p.Arg585Leu	p.R585L	ENST00000264932	13/15	471	304	167	404	404	0	strelka-varscan-mutect	SDHA,missense_variant,p.Arg585Leu,ENST00000264932,NM_004168.3;SDHA,missense_variant,p.Arg537Leu,ENST00000510361,NM_001294332.1;SDHA,missense_variant,p.Arg440Leu,ENST00000617470,;SDHA,missense_variant,p.Arg31Leu,ENST00000509564,;SDHA,intron_variant,,ENST00000504309,;SDHA,intron_variant,,ENST00000515815,;SDHA,non_coding_transcript_exon_variant,,ENST00000507522,;SDHA,intron_variant,,ENST00000509082,;SDHA,non_coding_transcript_exon_variant,,ENST00000511810,;SDHA,non_coding_transcript_exon_variant,,ENST00000503674,;SDHA,non_coding_transcript_exon_variant,,ENST00000505555,;SDHA,non_coding_transcript_exon_variant,,ENST00000514027,;SDHA,non_coding_transcript_exon_variant,,ENST00000515752,;SDHA,downstream_gene_variant,,ENST00000507266,;	T	ENST00000264932	Transcript	missense_variant	1869/2390	1754/1995	585/664	R/L	cGg/cTg	rs752360961,COSM1067147	1		1	SDHA	HGNC	HGNC:10680	protein_coding	YES	CCDS3853.1	ENSP00000264932	P31040	A0A024QZ30	UPI0000000C2C	NM_004168.3	deleterious_low_confidence(0)		13/15		Gene3D:1.20.58.100,Pfam_domain:PF02910,PIRSF_domain:PIRSF000171,hmmpanther:PTHR11632,hmmpanther:PTHR11632:SF51,Superfamily_domains:SSF46977,TIGRFAM_domain:TIGR01812,TIGRFAM_domain:TIGR01816											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs752360961	.												T	3	4	73	251428	251428	G	T	1	0	0	0	0	1	0	0	0	14235	1116	39	1		1	SDHA	5	251428	Missense_Mutation	SNP	G	C3N-01074_TP	77383	251428	181286831	125	23562											
ICE1	0	.	GRCh38	chr5	5461175	5461175	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaatcagaagatgatgActcaggtgatggaatggatg	14	9	13	5	0	2	6	2	4	0	2	2	8	2	8	1	3	0	0	1	3	3	0	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.1841A>T	p.Asp614Val	p.D614V	ENST00000296564	13/19	140	81	59	224	223	1	strelka-varscan-mutect	ICE1,missense_variant,p.Asp614Val,ENST00000296564,NM_015325.2;	T	ENST00000296564	Transcript	missense_variant	2063/7927	1841/6801	614/2266	D/V	gAc/gTc		1		1	ICE1	HGNC	HGNC:29154	protein_coding	YES	CCDS47187.1	ENSP00000296564	Q9Y2F5		UPI00015542F9	NM_015325.2	tolerated(0.22)		13/19		Low_complexity_(Seg):seg,hmmpanther:PTHR11852:SF4,hmmpanther:PTHR11852																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	5461175	5461175	A	T	1	0	0	0	0	1	0	0	0	7384	275	10	4		4	ICE1	5	5461175	Missense_Mutation	SNP	A	C3N-01074_TP	5209747	5461175	176077084	126	23563											
SEMA5A	0	.	GRCh38	chr5	9122788	9122788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgtgtgcgtgcaaggcGtccacggagaccacacacca	10	6	11	14	3	1	1	0	0	1	1	2	2	2	1	3	2	2	1	3	2	1	0	rs371178121		C3N-01074_TP	C3N-01074_NB	G	G																c.1649C>A	p.Thr550Lys	p.T550K	ENST00000382496	14/23	87	40	47	93	93	0	strelka-varscan-mutect	SEMA5A,missense_variant,p.Thr550Lys,ENST00000382496,NM_003966.2;	T	ENST00000382496	Transcript	missense_variant	2315/11762	1649/3225	550/1074	T/K	aCg/aAg	rs371178121,COSM1439143	1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2	tolerated(0.55)		14/23		PROSITE_profiles:PS50092,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs371178121	.												T	3	4	73	9122788	9122788	G	T	1	0	0	0	0	1	0	0	0	14313	1145	40	1		1	SEMA5A	5	9122788	Missense_Mutation	SNP	G	C3N-01074_TP	3661613	9122788	172415471	127	23564											
CTNND2	0	.	GRCh38	chr5	11732253	11732253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgaggctgatgaaggctgGtctggaacaggcatagctcc	9	9	14	9	0	2	3	0	3	2	0	3	4	3	4	1	5	2	4	1	5	3	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.57C>A	p.Asp19Glu	p.D19E	ENST00000304623	2/22	190	122	68	182	182	0	strelka-varscan-mutect	CTNND2,missense_variant,p.Asp19Glu,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Asp5Glu,ENST00000508761,;CTNND2,missense_variant,p.Asp5Glu,ENST00000502551,;CTNND2,non_coding_transcript_exon_variant,,ENST00000511278,;CTNND2,non_coding_transcript_exon_variant,,ENST00000509868,;CTNND2,missense_variant,p.Asp19Glu,ENST00000513588,;CTNND2,missense_variant,p.Asp19Glu,ENST00000504499,;	T	ENST00000304623	Transcript	missense_variant	247/5481	57/3678	19/1225	D/E	gaC/gaA		1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	tolerated(1)		2/22																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	11732253	11732253	G	T	1	0	0	0	0	1	0	0	0	3829	1252	44	2		2	CTNND2	5	11732253	Missense_Mutation	SNP	G	C3N-01074_TP	2609465	11732253	169806006	128	23565											
FBXL7	0	.	GRCh38	chr5	15936877	15936877	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggggctgcgagggcatCacggaccacggtgtggagta	8	5	19	9	4	1	0	1	0	0	0	1	4	1	2	1	6	1	3	1	6	1	1	rs774533739		C3N-01074_TP	C3N-01074_NB	C	C																c.1167C>A	p.=	p.I389I	ENST00000504595	4/4	204	187	17	259	258	1	strelka-varscan-mutect	FBXL7,synonymous_variant,p.=,ENST00000504595,NM_012304.4;FBXL7,synonymous_variant,p.=,ENST00000329673,;FBXL7,synonymous_variant,p.=,ENST00000510662,NM_001278317.1;MIR887,downstream_gene_variant,,ENST00000401258,;	A	ENST00000504595	Transcript	synonymous_variant	1648/4562	1167/1476	389/491	I	atC/atA	rs774533739	1		1	FBXL7	HGNC	HGNC:13604	protein_coding	YES	CCDS54833.1	ENSP00000423630	Q9UJT9		UPI00000724E0	NM_012304.4			4/4		Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24006,SMART_domains:SM00367,Superfamily_domains:SSF52047																	LOW	1	SNV	1			1										PASS		rs774533739	.												A	2	1	73	15936877	15936877	C	A	1	0	0	0	0	0	0	0	1	5587	816	29	2		2	FBXL7	5	15936877	Silent	SNP	C	C3N-01074_TP	4204624	15936877	165601382	129	23566											
SPEF2	0	.	GRCh38	chr5	35709123	35709123	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaaacctcaatcaggTgattgacagaatgatttata	18	10	8	5	0	2	4	2	3	0	1	2	5	2	5	1	2	1	0	1	2	7	4	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.2839+2T>C		p.X947_splice	ENST00000356031		300	258	42	299	299	0	strelka-varscan	SPEF2,splice_donor_variant,,ENST00000637569,;SPEF2,splice_donor_variant,,ENST00000440995,;SPEF2,splice_donor_variant,,ENST00000356031,NM_024867.3;SPEF2,synonymous_variant,p.=,ENST00000509059,;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,downstream_gene_variant,,ENST00000504054,;SPEF2,non_coding_transcript_exon_variant,,ENST00000503074,;SPEF2,downstream_gene_variant,,ENST00000508817,;	C	ENST00000356031	Transcript	splice_donor_variant	-/5681	2839/5469	947/1822				1		1	SPEF2	HGNC	HGNC:26293	protein_coding	YES	CCDS43309.1	ENSP00000348314	Q9C093	A0A140VKD0	UPI0001505B9F	NM_024867.3				19/36																		HIGH	1	SNV	2			1										PASS		.	.												C	5	2	73	35709123	35709123	T	C	1	0	0	0	0	0	0	1	0	15386	1710	59	5		5	SPEF2	5	35709123	Splice_Site	SNP	T	C3N-01074_TP	19772246	35709123	145829136	130	23567											
IL7R	0	.	GRCh38	chr5	35867385	35867385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgagacaaagaaattcttaCtgattggaaagagcaatata	18	10	8	5	1	1	4	0	1	1	3	2	6	1	5	0	1	2	1	0	1	7	5	rs772953676		C3N-01074_TP	C3N-01074_NB	C	C																c.301C>A	p.Leu101Met	p.L101M	ENST00000303115	3/8	266	169	97	323	323	0	strelka-varscan	IL7R,missense_variant,p.Leu101Met,ENST00000303115,NM_002185.3;IL7R,missense_variant,p.Leu101Met,ENST00000506850,;IL7R,missense_variant,p.Leu101Met,ENST00000511982,;IL7R,non_coding_transcript_exon_variant,,ENST00000511031,;IL7R,missense_variant,p.Leu101Met,ENST00000514217,;	A	ENST00000303115	Transcript	missense_variant	430/4626	301/1380	101/459	L/M	Ctg/Atg	rs772953676	1		1	IL7R	HGNC	HGNC:6024	protein_coding	YES	CCDS3911.1	ENSP00000306157	P16871		UPI000013E861	NM_002185.3	tolerated(0.07)		3/8		hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF27																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	35867385	35867385	C	A	1	0	0	0	0	1	0	0	0	7609	564	20	2		2	IL7R	5	35867385	Missense_Mutation	SNP	C	C3N-01074_TP	158262	35867385	145670874	131	23568											
IL7R	0	.	GRCh38	chr5	35876097	35876097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagatacgtttcctcagCaactagaagaatctgagaag	15	9	9	8	1	2	4	1	1	1	4	3	5	3	4	1	0	4	3	1	0	7	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.991C>A	p.Gln331Lys	p.Q331K	ENST00000303115	8/8	483	412	71	476	476	0	strelka-varscan	IL7R,missense_variant,p.Gln331Lys,ENST00000303115,NM_002185.3;IL7R,3_prime_UTR_variant,,ENST00000505093,;IL7R,downstream_gene_variant,,ENST00000506850,;IL7R,3_prime_UTR_variant,,ENST00000514217,;IL7R,non_coding_transcript_exon_variant,,ENST00000505875,;IL7R,downstream_gene_variant,,ENST00000509668,;	A	ENST00000303115	Transcript	missense_variant	1120/4626	991/1380	331/459	Q/K	Caa/Aaa		1		1	IL7R	HGNC	HGNC:6024	protein_coding	YES	CCDS3911.1	ENSP00000306157	P16871		UPI000013E861	NM_002185.3	tolerated(0.16)		8/8		hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF27																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	35876097	35876097	C	A	1	0	0	0	0	1	0	0	0	7609	711	25	2		2	IL7R	5	35876097	Missense_Mutation	SNP	C	C3N-01074_TP	8712	35876097	145662162	132	23569											
LMBRD2	0	.	GRCh38	chr5	36122935	36122935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcatccatgttcctaccCattttttcctgatactctgt	8	18	3	12	0	2	1	1	1	1	0	5	1	5	1	4	0	2	1	4	0	3	7	rs374425943		C3N-01074_TP	C3N-01074_NB	C	C																c.849G>T	p.Met283Ile	p.M283I	ENST00000296603	8/18	200	164	36	259	258	1	strelka-varscan	LMBRD2,missense_variant,p.Met283Ile,ENST00000296603,NM_001007527.1;	A	ENST00000296603	Transcript	missense_variant	1312/8185	849/2088	283/695	M/I	atG/atT	rs374425943	1		-1	LMBRD2	HGNC	HGNC:25287	protein_coding	YES	CCDS34145.1	ENSP00000296603	Q68DH5		UPI00001602FC	NM_001007527.1	tolerated(0.19)		8/18		Pfam_domain:PF04791,hmmpanther:PTHR21355,hmmpanther:PTHR21355:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	36122935	36122935	C	A	1	0	0	0	0	1	0	0	0	8767	594	21	2		2	LMBRD2	5	36122935	Missense_Mutation	SNP	C	C3N-01074_TP	246838	36122935	145415324	133	23570											
FYB	0	.	GRCh38	chr5	39201901	39201901	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggttttggtggaggtggacCcaaggtaaacaagggaggca	11	7	18	5	0	0	0	0	0	0	0	0	3	0	3	1	8	1	3	1	8	4	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1090G>T	p.Gly364Cys	p.G364C	ENST00000512982	2/19	256	166	90	250	249	1	strelka-varscan	FYB,missense_variant,p.Gly354Cys,ENST00000351578,NM_199335.3;FYB,missense_variant,p.Gly354Cys,ENST00000505428,NM_001465.4;FYB,missense_variant,p.Gly364Cys,ENST00000512982,NM_001243093.1;FYB,missense_variant,p.Gly354Cys,ENST00000515010,;FYB,downstream_gene_variant,,ENST00000506557,;FYB,downstream_gene_variant,,ENST00000510188,;FYB,downstream_gene_variant,,ENST00000504542,;FYB,downstream_gene_variant,,ENST00000509072,;FYB,downstream_gene_variant,,ENST00000512138,;	A	ENST00000512982	Transcript	missense_variant	1176/2747	1090/2520	364/839	G/C	Ggt/Tgt		1		-1	FYB	HGNC	HGNC:4036	protein_coding	YES	CCDS58945.1	ENSP00000425845	O15117		UPI00017A75FB	NM_001243093.1	deleterious(0)		2/19		hmmpanther:PTHR16830,hmmpanther:PTHR16830:SF13,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	73	39201901	39201901	C	A	1	0	0	0	0	1	0	0	0	5995	623	22	2		2	FYB	5	39201901	Missense_Mutation	SNP	C	C3N-01074_TP	3078966	39201901	142336358	134	23571											
C7	0	.	GRCh38	chr5	40959542	40959542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaatgcaataacccacctcCcagtgggggtgggagatcct	10	8	12	11	0	0	2	0	1	0	1	2	3	2	2	4	3	2	1	4	3	3	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1583C>A	p.Pro528His	p.P528H	ENST00000313164	12/18	134	90	44	110	110	0	strelka-varscan	C7,missense_variant,p.Pro528His,ENST00000313164,NM_000587.2;C7,upstream_gene_variant,,ENST00000486779,;	A	ENST00000313164	Transcript	missense_variant	1942/4257	1583/2532	528/843	P/H	cCc/cAc		1		1	C7	HGNC	HGNC:1346	protein_coding	YES	CCDS47201.1	ENSP00000322061	P10643		UPI000020CA08	NM_000587.2	deleterious(0)		12/18		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF389,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	40959542	40959542	C	A	1	0	0	0	0	1	0	0	0	2134	623	22	2		2	C7	5	40959542	Missense_Mutation	SNP	C	C3N-01074_TP	1757641	40959542	140578717	135	23572											
HSPB3	0	.	GRCh38	chr5	54455880	54455880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctagaagactgcaggctgGatcatgctttatatgcactg	10	12	11	8	0	2	2	1	0	1	2	2	3	2	3	0	2	3	4	0	2	4	4	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.91G>T	p.Asp31Tyr	p.D31Y	ENST00000302005	1/1	426	355	71	427	427	0	strelka-varscan	HSPB3,missense_variant,p.Asp31Tyr,ENST00000302005,NM_006308.2;	T	ENST00000302005	Transcript	missense_variant	280/784	91/453	31/150	D/Y	Gat/Tat		1		1	HSPB3	HGNC	HGNC:5248	protein_coding	YES	CCDS3961.1	ENSP00000303394	Q12988	Q6ICS9	UPI000012CCD3	NM_006308.2	deleterious(0.05)		1/1		hmmpanther:PTHR11527,hmmpanther:PTHR11527:SF29																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	73	54455880	54455880	G	T	1	0	0	0	0	1	0	0	0	7317	1174	41	2		2	HSPB3	5	54455880	Missense_Mutation	SNP	G	C3N-01074_TP	13496338	54455880	127082379	136	23573											
ADGRV1	0	.	GRCh38	chr5	90789700	90789700	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctgttgtttatattttttAgatacaagagtttggtgacc	9	19	8	5	0	1	3	0	1	1	2	1	3	1	3	1	1	1	3	1	1	5	9	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.13894-2A>T		p.X4632_splice	ENST00000405460		92	76	16	119	119	0	strelka-varscan	ADGRV1,splice_acceptor_variant,,ENST00000405460,NM_032119.3;ADGRV1,splice_acceptor_variant,,ENST00000425867,;ADGRV1,upstream_gene_variant,,ENST00000507314,;	T	ENST00000405460	Transcript	splice_acceptor_variant	-/19338	13894/18921	4632/6306				1		1	ADGRV1	HGNC	HGNC:17416	protein_coding	YES	CCDS47246.1	ENSP00000384582	Q8WXG9		UPI00002127A7	NM_032119.3				68/89																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	73	90789700	90789700	A	T	1	0	0	0	0	0	0	1	0	379	434	15	4		4	ADGRV1	5	90789700	Splice_Site	SNP	A	C3N-01074_TP	36333820	90789700	90748559	137	23574											
NUDT12	0	.	GRCh38	chr5	103560152	103560152	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagagatggagaatgacTgagtattcctgttaacttgg	13	11	13	4	0	0	5	0	2	0	3	1	8	1	5	1	2	1	2	1	2	4	4	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.97A>T	p.Ser33Cys	p.S33C	ENST00000230792	2/7	371	297	74	412	412	0	strelka-varscan-mutect	NUDT12,missense_variant,p.Ser33Cys,ENST00000230792,NM_031438.3;NUDT12,missense_variant,p.Ser33Cys,ENST00000507423,NM_001300741.1;NUDT12,upstream_gene_variant,,ENST00000515407,;NUDT12,non_coding_transcript_exon_variant,,ENST00000508889,;	A	ENST00000230792	Transcript	missense_variant	194/3492	97/1389	33/462	S/C	Agt/Tgt		1		-1	NUDT12	HGNC	HGNC:18826	protein_coding	YES	CCDS4096.1	ENSP00000230792	Q9BQG2		UPI0000073C53	NM_031438.3	deleterious(0.01)		2/7		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs1438400455	.												A	3	1	73	103560152	103560152	T	A	1	0	0	0	0	1	0	0	0	10792	1580	55	4		4	NUDT12	5	103560152	Missense_Mutation	SNP	T	C3N-01074_TP	12770452	103560152	77978107	138	23575											
MCC	0	.	GRCh38	chr5	113385094	113385094	+	Frame_Shift_Del	DEL	G	G	-																															ttctcgaacaagctgcatgcGgcatcttgtgaaatcctgaa																										C3N-01074_TP	C3N-01074_NB	G	G																c.289delC	p.Arg97AlafsTer13	p.R97Afs*13	ENST00000408903	2/19	329	275	54	381	381	0	sindel-varindel-pindel	MCC,frameshift_variant,p.Arg97AlafsTer13,ENST00000408903,NM_001085377.1;CTD-2201G3.1,intron_variant,,ENST00000416046,;	-	ENST00000408903	Transcript	frameshift_variant	705/3476	289/3060	97/1019	R/X	Cgc/gc	COSM1671809	1		-1	MCC	HGNC	HGNC:6935	protein_coding	YES	CCDS43351.1	ENSP00000386227	P23508		UPI00015E06EA	NM_001085377.1			2/19		Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR23347,hmmpanther:PTHR23347:SF4,SMART_domains:SM00054,Superfamily_domains:SSF47473											1						HIGH	1	deletion	2		1	1										PASS		.	.												-	7	5	73	113385094	113385094	G	-	1	0	1	0	1	0	0	0	0	9303	1116	39	0		0	MCC	5	113385094	Frame_Shift_Del	DEL	G	C3N-01074_TP	9824942	113385094	68153165	139	23576											
SNCAIP	0	.	GRCh38	chr5	122451288	122451288	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatctcagaacttaaaacTgagagttacctttgaggagc	14	10	9	8	0	1	3	1	2	1	2	2	6	1	4	1	1	4	1	1	1	4	3	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.2582T>A	p.Leu861Gln	p.L861Q	ENST00000261367	12/14	344	284	60	438	438	0	strelka-varscan-mutect	SNCAIP,missense_variant,p.Leu861Gln,ENST00000261367,NM_001308100.1;SNCAIP,missense_variant,p.Leu814Gln,ENST00000261368,NM_005460.2;SNCAIP,missense_variant,p.Leu754Gln,ENST00000509154,;SNCAIP,missense_variant,p.Leu448Gln,ENST00000379538,NM_001242935.1;SNCAIP,3_prime_UTR_variant,,ENST00000542191,;SNCAIP,3_prime_UTR_variant,,ENST00000504884,;SNCAIP,3_prime_UTR_variant,,ENST00000414317,;MGC32805,intron_variant,,ENST00000510972,;MGC32805,intron_variant,,ENST00000509993,;MGC32805,intron_variant,,ENST00000506053,;MGC32805,intron_variant,,ENST00000503529,;MGC32805,intron_variant,,ENST00000505546,;SNCAIP,3_prime_UTR_variant,,ENST00000395469,;SNCAIP,3_prime_UTR_variant,,ENST00000512385,;SNCAIP,3_prime_UTR_variant,,ENST00000508017,;SNCAIP,3_prime_UTR_variant,,ENST00000510658,;SNCAIP,3_prime_UTR_variant,,ENST00000509023,;SNCAIP,3_prime_UTR_variant,,ENST00000395466,;SNCAIP,3_prime_UTR_variant,,ENST00000512146,;SNCAIP,3_prime_UTR_variant,,ENST00000515215,;SNCAIP,non_coding_transcript_exon_variant,,ENST00000513719,;	A	ENST00000261367	Transcript	missense_variant	4010/4986	2582/3051	861/1016	L/Q	cTg/cAg		1		1	SNCAIP	HGNC	HGNC:11139	protein_coding	YES	CCDS78054.1	ENSP00000261367	Q9Y6H5		UPI000023272B	NM_001308100.1	deleterious(0)		12/14		hmmpanther:PTHR22882																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	122451288	122451288	T	A	1	0	0	0	0	1	0	0	0	15162	1580	55	4		4	SNCAIP	5	122451288	Missense_Mutation	SNP	T	C3N-01074_TP	9066194	122451288	59086971	140	23577											
PCDHB7	0	.	GRCh38	chr5	141174091	141174091	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaacactgagtacaacaTcaccatcaccgtcaccgact	14	6	7	14	2	3	1	3	1	0	0	3	4	3	2	3	1	3	1	3	1	3	1	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.1256T>A	p.Ile419Asn	p.I419N	ENST00000231137	1/1	350	281	69	409	409	0	strelka-varscan	PCDHB7,missense_variant,p.Ile419Asn,ENST00000231137,NM_018940.3;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.4;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,intron_variant,,ENST00000624802,;AC005754.7,upstream_gene_variant,,ENST00000625128,;CH17-140K24.4,upstream_gene_variant,,ENST00000623995,;	A	ENST00000231137	Transcript	missense_variant	1473/3765	1256/2382	419/793	I/N	aTc/aAc		1		1	PCDHB7	HGNC	HGNC:8692	protein_coding	YES	CCDS4249.1	ENSP00000231137	Q9Y5E2		UPI00001273E3	NM_018940.3	deleterious_low_confidence(0)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												A	3	1	73	141174091	141174091	T	A	1	0	0	0	0	1	0	0	0	11634	1435	50	4		4	PCDHB7	5	141174091	Missense_Mutation	SNP	T	C3N-01074_TP	18722803	141174091	40364168	141	23578											
PCDHB10	0	.	GRCh38	chr5	141193004	141193004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatacagctgaagggacagCatttagactagaaagagcac	18	6	10	7	0	0	4	0	1	0	3	0	5	0	5	0	1	4	3	0	1	6	4			C3N-01074_TP	C3N-01074_NB	C	C																c.452C>A	p.Ala151Glu	p.A151E	ENST00000239446	1/1	320	272	48	468	467	1	strelka-varscan	PCDHB10,missense_variant,p.Ala151Glu,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,NM_019119.4;PCDHB9,downstream_gene_variant,,ENST00000624909,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.6,intron_variant,,ENST00000625144,;PCDHB9,downstream_gene_variant,,ENST00000623266,;CH17-140K24.5,downstream_gene_variant,,ENST00000623407,;	A	ENST00000239446	Transcript	missense_variant	652/3290	452/2403	151/800	A/E	gCa/gAa	COSM4762082	1		1	PCDHB10	HGNC	HGNC:8681	protein_coding	YES	CCDS4252.1	ENSP00000239446	Q9UN67		UPI0000048F2E	NM_018930.3	tolerated_low_confidence(0.12)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF54,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313											1						MODERATE		SNV			1	1										PASS		.	.												A	3	1	73	141193004	141193004	C	A	1	0	0	0	0	1	0	0	0	11622	710	25	2		2	PCDHB10	5	141193004	Missense_Mutation	SNP	C	C3N-01074_TP	18913	141193004	40345255	142	23579											
PCDHB10	0	.	GRCh38	chr5	141193992	141193992	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgccacagacagagactcGggcaccaacgcccaggtcac	12	2	11	16	3	1	2	1	0	0	2	2	3	1	2	3	2	2	1	3	2	1	0	rs17844567		C3N-01074_TP	C3N-01074_NB	G	G																c.1440G>T	p.=	p.S480S	ENST00000239446	1/1	127	103	24	221	220	1	strelka-varscan	PCDHB10,synonymous_variant,p.=,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,NM_019119.4;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.6,intron_variant,,ENST00000625144,;	T	ENST00000239446	Transcript	synonymous_variant	1640/3290	1440/2403	480/800	S	tcG/tcT	rs17844567,COSM1243494	1		1	PCDHB10	HGNC	HGNC:8681	protein_coding	YES	CCDS4252.1	ENSP00000239446	Q9UN67		UPI0000048F2E	NM_018930.3			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF54,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1						LOW		SNV			0,1	1										PASS		.	.												T	2	4	73	141193992	141193992	G	T	1	0	0	0	0	0	0	0	1	11622	1103	39	1		1	PCDHB10	5	141193992	Silent	SNP	G	C3N-01074_TP	988	141193992	40344267	143	23580											
PCDHGA2	0	.	GRCh38	chr5	141340870	141340870	+	Frame_Shift_Del	DEL	G	G	-																															cgcacggcgcgagccctgctGgacagagacgcgctcaagca																								novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1900delG	p.Asp634ThrfsTer99	p.D634Tfs*99	ENST00000394576	1/4	297	238	59	475	475	0	sindel-varindel-pindel	PCDHGA2,frameshift_variant,p.Asp634ThrfsTer99,ENST00000394576,NM_018915.3;PCDHGA2,frameshift_variant,p.Asp634ThrfsTer99,ENST00000528330,NM_032009.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3;PCDHGA3,upstream_gene_variant,,ENST00000619750,NM_032011.1;PCDHGA3,upstream_gene_variant,,ENST00000612467,;	-	ENST00000394576	Transcript	frameshift_variant	1899/4605	1899/2799	633/932	L/X	ctG/ct		1		1	PCDHGA2	HGNC	HGNC:8700	protein_coding	YES	CCDS47289.1	ENSP00000378077	Q9Y5H1		UPI0000072E67	NM_018915.3			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF134,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	73	141340870	141340870	G	-	1	0	1	0	1	0	0	0	0	11641	1335	47	0		0	PCDHGA2	5	141340870	Frame_Shift_Del	DEL	G	C3N-01074_TP	146878	141340870	40197389	144	23581											
PCDHGA4	0	.	GRCh38	chr5	141357157	141357157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaggaccatggccagcccCctctctcggccaccgtcaca	7	6	8	20	2	2	0	1	0	1	0	5	1	3	1	7	3	1	0	7	3	0	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2050C>T	p.Pro684Ser	p.P684S	ENST00000571252	1/4	136	106	30	212	211	1	strelka-varscan	PCDHGA4,missense_variant,p.Pro684Ser,ENST00000571252,NM_018917.3;PCDHGA4,missense_variant,p.Pro684Ser,ENST00000612927,NM_032053.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB2,upstream_gene_variant,,ENST00000522605,NM_018923.2;PCDHGB1,downstream_gene_variant,,ENST00000611598,NM_032095.1;PCDHGB2,upstream_gene_variant,,ENST00000622527,NM_032096.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000571252	Transcript	missense_variant	2133/4778	2050/2889	684/962	P/S	Cct/Tct		1		1	PCDHGA4	HGNC	HGNC:8702	protein_coding	YES	CCDS58979.2	ENSP00000458570		A0A087WT05	UPI0003583741	NM_018917.3	deleterious_low_confidence(0.01)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF94,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	141357157	141357157	C	T	1	0	0	0	0	1	0	0	0	11643	623	22	3		3	PCDHGA4	5	141357157	Missense_Mutation	SNP	C	C3N-01074_TP	16287	141357157	40181102	145	23582											
STK32A	0	.	GRCh38	chr5	147323976	147323976	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacctgcgttatcacctgcaAcagaacgtccacttcaagga	12	8	8	13	2	2	1	2	0	0	1	3	3	3	2	3	1	4	2	3	1	4	2	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.339A>G	p.=	p.Q113Q	ENST00000398523	5/14	192	164	28	264	264	0	strelka-varscan	STK32A,synonymous_variant,p.=,ENST00000397936,NM_001112724.1;STK32A,synonymous_variant,p.=,ENST00000398523,NM_001287740.1;STK32A,synonymous_variant,p.=,ENST00000626951,NM_145001.3;STK32A,non_coding_transcript_exon_variant,,ENST00000306304,;	G	ENST00000398523	Transcript	synonymous_variant	510/1637	339/1224	113/407	Q	caA/caG		1		1	STK32A	HGNC	HGNC:28317	protein_coding	YES	CCDS75351.1	ENSP00000381535		B7Z9H7	UPI0000044971	NM_001287740.1			5/14		PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF143,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	2			1										PASS		.	.												G	2	3	73	147323976	147323976	A	G	1	0	0	0	0	0	0	0	1	15674	40	2	5		5	STK32A	5	147323976	Silent	SNP	A	C3N-01074_TP	5966819	147323976	34214283	146	23583											
SH3TC2	0	.	GRCh38	chr5	149027796	149027796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctcctcgtgccggcctaGgctcaggagcaagcggatgg	7	6	15	13	3	1	0	1	0	0	0	3	3	2	2	4	5	3	2	4	5	2	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1936C>A	p.Leu646Ile	p.L646I	ENST00000515425	11/17	270	208	62	368	367	1	strelka-varscan	SH3TC2,missense_variant,p.Leu646Ile,ENST00000515425,NM_024577.3;SH3TC2,missense_variant,p.Leu639Ile,ENST00000512049,;SH3TC2,downstream_gene_variant,,ENST00000513340,;SH3TC2,downstream_gene_variant,,ENST00000503071,;SH3TC2,missense_variant,p.Leu646Ile,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;SH3TC2,3_prime_UTR_variant,,ENST00000513604,;SH3TC2,3_prime_UTR_variant,,ENST00000511307,;SH3TC2,3_prime_UTR_variant,,ENST00000510779,;	T	ENST00000515425	Transcript	missense_variant	2038/4059	1936/3867	646/1288	L/I	Cta/Ata		1		-1	SH3TC2	HGNC	HGNC:29427	protein_coding	YES	CCDS4293.1	ENSP00000423660	Q8TF17		UPI00001DFBEE	NM_024577.3	deleterious(0)		11/17		Gene3D:1.25.40.10,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	149027796	149027796	G	T	1	0	0	0	0	1	0	0	0	14521	991	35	2		2	SH3TC2	5	149027796	Missense_Mutation	SNP	G	C3N-01074_TP	1703820	149027796	32510463	147	23584											
SLC26A2	0	.	GRCh38	chr5	149980443	149980443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcctcggactaatggtgtgGgctcactcatcactacctgg	7	12	10	12	1	3	0	3	0	0	0	5	1	4	1	2	4	1	1	2	4	2	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.850G>T	p.Gly284Cys	p.G284C	ENST00000286298	3/3	332	265	67	466	465	1	strelka-varscan	SLC26A2,missense_variant,p.Gly284Cys,ENST00000286298,NM_000112.3;SLC26A2,intron_variant,,ENST00000503336,;SLC26A2,downstream_gene_variant,,ENST00000433184,;	T	ENST00000286298	Transcript	missense_variant	1118/8080	850/2220	284/739	G/C	Ggc/Tgc		1		1	SLC26A2	HGNC	HGNC:10994	protein_coding	YES	CCDS4300.1	ENSP00000286298	P50443		UPI000013DE3D	NM_000112.3	deleterious(0.01)		3/3		Transmembrane_helices:TMhelix,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF16,Pfam_domain:PF00916,TIGRFAM_domain:TIGR00815																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	149980443	149980443	G	T	1	0	0	0	0	1	0	0	0	14787	1232	43	2		2	SLC26A2	5	149980443	Missense_Mutation	SNP	G	C3N-01074_TP	952647	149980443	31557816	148	23585											
NDST1	0	.	GRCh38	chr5	150553255	150553255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attaccgggaccacaacatcGagctctccaagctgctgtat	11	9	8	13	2	1	0	0	0	1	0	3	2	1	1	3	1	5	4	3	1	4	2	rs773934403		C3N-01074_TP	C3N-01074_NB	G	G																c.2572G>A	p.Glu858Lys	p.E858K	ENST00000261797	15/15	447	356	91	482	481	1	strelka-varscan	NDST1,missense_variant,p.Glu858Lys,ENST00000261797,NM_001543.4;NDST1,missense_variant,p.Glu801Lys,ENST00000523767,NM_001301063.1;NDST1,non_coding_transcript_exon_variant,,ENST00000521752,;NDST1,downstream_gene_variant,,ENST00000624156,;	A	ENST00000261797	Transcript	missense_variant	3074/8030	2572/2649	858/882	E/K	Gag/Aag	rs773934403	1		1	NDST1	HGNC	HGNC:7680	protein_coding	YES	CCDS34277.1	ENSP00000261797	P52848		UPI000012CDA5	NM_001543.4	tolerated(0.13)		15/15		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF30,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	150553255	150553255	G	A	1	0	0	0	0	1	0	0	0	10276	1059	37	1		1	NDST1	5	150553255	Missense_Mutation	SNP	G	C3N-01074_TP	572812	150553255	30985004	149	23586											
SGCD	0	.	GRCh38	chr5	156759364	156759364	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagctgggtccacttgtCagataaacacaagtgtctgc	11	9	11	10	0	2	1	1	0	1	1	3	2	3	2	1	2	3	1	1	2	3	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.847C>A	p.Gln283Lys	p.Q283K	ENST00000337851	9/9	75	58	17	113	113	0	strelka-varscan	SGCD,missense_variant,p.Gln282Lys,ENST00000435422,NM_001128209.1;SGCD,missense_variant,p.Gln283Lys,ENST00000337851,NM_000337.5;SGCD,downstream_gene_variant,,ENST00000517913,NM_172244.2;	A	ENST00000337851	Transcript	missense_variant	1366/1606	847/873	283/290	Q/K	Cag/Aag		1		1	SGCD	HGNC	HGNC:10807	protein_coding	YES	CCDS47325.1	ENSP00000338343	Q92629		UPI00001678CF	NM_000337.5	deleterious(0.04)		9/9		hmmpanther:PTHR12939:SF6,hmmpanther:PTHR12939																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	156759364	156759364	C	A	1	0	0	0	0	1	0	0	0	14461	827	29	2		2	SGCD	5	156759364	Missense_Mutation	SNP	C	C3N-01074_TP	6206109	156759364	24778895	150	23587											
FAM71B	0	.	GRCh38	chr5	157165748	157165748	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagtggcgagtttcaggcGcagctgctgtttctcatgat	6	12	13	10	2	2	1	2	1	1	0	3	2	2	1	1	2	2	5	1	2	0	2	rs767513722		C3N-01074_TP	C3N-01074_NB	G	G																c.421C>A	p.Arg141Ser	p.R141S	ENST00000302938	1/2	183	141	42	267	267	0	strelka-varscan	FAM71B,missense_variant,p.Arg141Ser,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;	T	ENST00000302938	Transcript	missense_variant	517/2515	421/1818	141/605	R/S	Cgc/Agc	rs767513722,COSM4683176	1		-1	FAM71B	HGNC	HGNC:28397	protein_coding	YES	CCDS4335.1	ENSP00000305596	Q8TC56	A0A140VJJ4	UPI000006F9DC	NM_130899.2	deleterious(0)		1/2		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2,Pfam_domain:PF12480											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	73	157165748	157165748	G	T	1	0	0	0	0	1	0	0	0	5472	1087	38	1		1	FAM71B	5	157165748	Missense_Mutation	SNP	G	C3N-01074_TP	406384	157165748	24372511	151	23588											
ATP10B	0	.	GRCh38	chr5	160603965	160603965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagttgcagagaacaatacCtgcatgccttcctgtccaga	12	10	8	11	0	0	2	0	0	0	2	2	3	2	2	4	0	5	3	4	0	4	4	rs8180469		C3N-01074_TP	C3N-01074_NB	C	C																c.3237G>T	p.Gln1079His	p.Q1079H	ENST00000327245	20/26	131	104	27	194	193	1	strelka-varscan	ATP10B,missense_variant,p.Gln1079His,ENST00000327245,NM_025153.2;ATP10B,upstream_gene_variant,,ENST00000523758,;ATP10B,non_coding_transcript_exon_variant,,ENST00000517815,;	A	ENST00000327245	Transcript	missense_variant,splice_region_variant	4084/7566	3237/4386	1079/1461	Q/H	caG/caT	rs8180469,COSM5334325	1		-1	ATP10B	HGNC	HGNC:13543	protein_coding	YES	CCDS43394.1	ENSP00000313600	O94823		UPI0000191DAE	NM_025153.2	deleterious(0)		20/26		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF79,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,Superfamily_domains:SSF56784											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	73	160603965	160603965	C	A	1	0	0	0	0	1	0	0	0	1269	695	24	2		2	ATP10B	5	160603965	Missense_Mutation	SNP	C	C3N-01074_TP	3438217	160603965	20934294	152	23589											
WWC1	0	.	GRCh38	chr5	168414401	168414401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacagtgaggcctggcctgGggtgctggactcagagaggg	7	7	19	8	0	1	3	1	2	0	1	1	5	1	4	2	6	1	1	2	6	0	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.995G>A	p.Gly332Glu	p.G332E	ENST00000521089	9/23	254	193	61	308	308	0	strelka-varscan	WWC1,missense_variant,p.Gly332Glu,ENST00000265293,NM_015238.2;WWC1,missense_variant,p.Gly294Glu,ENST00000393895,;WWC1,missense_variant,p.Gly332Glu,ENST00000521089,NM_001161662.1,NM_001161661.1;WWC1,missense_variant,p.Gly109Glu,ENST00000524228,;WWC1,non_coding_transcript_exon_variant,,ENST00000624315,;WWC1,non_coding_transcript_exon_variant,,ENST00000517425,;WWC1,non_coding_transcript_exon_variant,,ENST00000517646,;WWC1,non_coding_transcript_exon_variant,,ENST00000518334,;WWC1,downstream_gene_variant,,ENST00000519659,;	A	ENST00000521089	Transcript	missense_variant	998/3562	995/3360	332/1119	G/E	gGg/gAg		1		1	WWC1	HGNC	HGNC:29435	protein_coding	YES	CCDS54945.1	ENSP00000427772	Q8IX03		UPI00017A7149	NM_001161662.1,NM_001161661.1	deleterious(0)		9/23		hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF22																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	73	168414401	168414401	G	A	1	0	0	0	0	1	0	0	0	17969	1232	43	3		3	WWC1	5	168414401	Missense_Mutation	SNP	G	C3N-01074_TP	7810436	168414401	13123858	153	23590											
SLIT3	0	.	GRCh38	chr5	169300511	169300511	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggggcaggggtactcAcaggcgctcagcgttgcggg	5	6	21	9	3	2	0	2	0	0	0	2	0	2	0	0	8	3	4	0	8	1	2	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.197+2T>A		p.X66_splice	ENST00000332966		57	41	16	78	78	0	strelka-varscan	SLIT3,splice_donor_variant,,ENST00000519560,NM_003062.3;SLIT3,splice_donor_variant,,ENST00000332966,NM_001271946.1;SLIT3,splice_donor_variant,,ENST00000521130,;SLIT3,splice_donor_variant,,ENST00000518140,;	T	ENST00000332966	Transcript	splice_donor_variant	-/4895	197/4593	66/1530				1		-1	SLIT3	HGNC	HGNC:11087	protein_coding	YES	CCDS64311.1	ENSP00000332164	O75094		UPI0001E8F75D	NM_001271946.1				1/35																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	73	169300511	169300511	A	T	1	0	0	0	0	0	0	1	0	15032	173	6	4		4	SLIT3	5	169300511	Splice_Site	SNP	A	C3N-01074_TP	886110	169300511	12237748	154	23591											
DOCK2	0	.	GRCh38	chr5	169637334	169637334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccggcccagccatggcccCctggcgcaaagctgacaagg	8	3	12	18	2	0	1	0	1	0	0	0	1	0	1	6	4	2	2	6	4	2	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.8C>A	p.Pro3His	p.P3H	ENST00000256935	1/52	36	25	11	52	52	0	strelka-varscan	DOCK2,missense_variant,p.Pro3His,ENST00000256935,NM_004946.2;DOCK2,non_coding_transcript_exon_variant,,ENST00000522138,;DOCK2,missense_variant,p.Pro3His,ENST00000524185,;	A	ENST00000256935	Transcript	missense_variant	88/6097	8/5493	3/1830	P/H	cCc/cAc		1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2	tolerated(0.13)		1/52		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Gene3D:2.30.30.40																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	169637334	169637334	C	A	1	0	0	0	0	1	0	0	0	4502	623	22	2		2	DOCK2	5	169637334	Missense_Mutation	SNP	C	C3N-01074_TP	336823	169637334	11900925	155	23592											
FAF2	0	.	GRCh38	chr5	176498973	176498973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatgaggcctacctggcctCtctcagagctgaccaggaga	9	7	13	12	0	2	4	1	2	1	2	3	6	2	5	4	4	2	1	4	4	1	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.899C>G	p.Ser300Cys	p.S300C	ENST00000261942	9/11	182	146	36	159	159	0	strelka-varscan	FAF2,missense_variant,p.Ser300Cys,ENST00000261942,NM_014613.2;FAF2,non_coding_transcript_exon_variant,,ENST00000504983,;FAF2,downstream_gene_variant,,ENST00000513627,;	G	ENST00000261942	Transcript	missense_variant	952/4515	899/1338	300/445	S/C	tCt/tGt		1		1	FAF2	HGNC	HGNC:24666	protein_coding	YES	CCDS34296.1	ENSP00000261942	Q96CS3		UPI000007478A	NM_014613.2	deleterious(0.02)		9/11		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23322,hmmpanther:PTHR23322:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	73	176498973	176498973	C	G	1	0	0	0	0	1	0	0	0	5242	913	32	4		4	FAF2	5	176498973	Missense_Mutation	SNP	C	C3N-01074_TP	6861639	176498973	5039286	156	23593											
DSP	0	.	GRCh38	chr6	7585800	7585800	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggtcccgcagtgggtcccgGagaggaagctttgacgccac	7	6	16	12	3	0	2	0	1	0	1	2	4	2	3	3	4	1	2	3	4	1	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.8538G>C	p.=	p.R2846R	ENST00000379802	24/24	197	148	49	194	193	1	strelka-varscan-mutect	DSP,synonymous_variant,p.=,ENST00000379802,NM_004415.2;DSP,synonymous_variant,p.=,ENST00000418664,NM_001008844.1;SNRNP48,upstream_gene_variant,,ENST00000342415,NM_152551.3;SNRNP48,upstream_gene_variant,,ENST00000634363,;	C	ENST00000379802	Transcript	synonymous_variant	8879/9796	8538/8616	2846/2871	R	cgG/cgC		1		1	DSP	HGNC	HGNC:3052	protein_coding	YES	CCDS4501.1	ENSP00000369129	P15924		UPI000013C67F	NM_004415.2			24/24		Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF234																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	73	7585800	7585800	G	C	1	0	0	0	0	0	0	0	1	4602	1161	41	4		4	DSP	6	7585800	Silent	SNP	G	C3N-01074_TP		7585800	163220179	157	23594											
ZBED9	0	.	GRCh38	chr6	28586451	28586451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaacaattccaggatctgCtccttggtatgtatctctgg	9	13	8	11	0	2	0	0	0	2	0	5	1	4	1	3	3	2	3	3	3	4	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.267G>T	p.Glu89Asp	p.E89D	ENST00000452236	1/4	441	383	58	436	434	2	strelka-varscan	ZBED9,missense_variant,p.Glu89Asp,ENST00000452236,NM_052923.1;RP5-1186N24.3,upstream_gene_variant,,ENST00000499525,;ZBED9,non_coding_transcript_exon_variant,,ENST00000526291,;ZBED9,intron_variant,,ENST00000530247,;ZBED9,downstream_gene_variant,,ENST00000524745,;	A	ENST00000452236	Transcript	missense_variant	885/4877	267/3978	89/1325	E/D	gaG/gaT		1		-1	ZBED9	HGNC	HGNC:13851	protein_coding	YES	CCDS34355.1	ENSP00000395259	Q6R2W3		UPI00001618B7	NM_052923.1	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50804,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	28586451	28586451	C	A	1	0	0	0	0	1	0	0	0	18086	796	28	2		2	ZBED9	6	28586451	Missense_Mutation	SNP	C	C3N-01074_TP	21000651	28586451	142219528	158	23595											
ZFP57	0	.	GRCh38	chr6	29672911	29672911	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggccttctggtgtctGgagagataggatttcttgct	6	14	15	6	0	3	1	0	0	3	1	3	4	3	3	1	5	1	1	1	5	1	4	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1200C>A	p.=	p.S400S	ENST00000488757	4/4	934	678	256	760	760	0	strelka-varscan	ZFP57,synonymous_variant,p.=,ENST00000376883,;ZFP57,synonymous_variant,p.=,ENST00000488757,NM_001109809.2;ZFP57,synonymous_variant,p.=,ENST00000376881,;MOG,downstream_gene_variant,,ENST00000376894,;MOG,downstream_gene_variant,,ENST00000376917,NM_206809.3;MOG,downstream_gene_variant,,ENST00000431798,NM_206812.3;MOG,downstream_gene_variant,,ENST00000376888,NM_206814.5;MOG,downstream_gene_variant,,ENST00000376898,NM_002433.4;MOG,downstream_gene_variant,,ENST00000494692,NM_206811.3;MOG,downstream_gene_variant,,ENST00000396701,NM_206810.3;MOG,downstream_gene_variant,,ENST00000376891,NM_001008229.2;MOG,downstream_gene_variant,,ENST00000396704,NM_001008228.2;MOG,downstream_gene_variant,,ENST00000416766,;MOG,downstream_gene_variant,,ENST00000490427,NM_001170418.1;MOG,downstream_gene_variant,,ENST00000483013,;MOG,downstream_gene_variant,,ENST00000376889,;MOG,downstream_gene_variant,,ENST00000485211,;MOG,downstream_gene_variant,,ENST00000485885,;	T	ENST00000488757	Transcript	synonymous_variant	1351/1870	1200/1611	400/536	S	tcC/tcA		1		-1	ZFP57	HGNC	HGNC:18791	protein_coding	YES	CCDS43436.2	ENSP00000418259	Q9NU63		UPI0001951170	NM_001109809.2			4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF179,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	73	29672911	29672911	G	T	1	0	0	0	0	0	0	0	1	18226	1335	47	2		2	ZFP57	6	29672911	Silent	SNP	G	C3N-01074_TP	1086460	29672911	141133068	159	23596											
DXO	0	.	GRCh38	chr6	31971566	31971566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaaaggaaagggcccaGagtagagggcagggtctgtg	12	5	19	5	0	1	3	0	0	1	3	1	4	1	4	1	5	0	3	1	5	4	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.110C>A	p.Ser37Tyr	p.S37Y	ENST00000375349	2/7	445	328	117	320	319	1	strelka-varscan	DXO,missense_variant,p.Ser37Tyr,ENST00000375349,;DXO,missense_variant,p.Ser37Tyr,ENST00000337523,NM_005510.3;DXO,missense_variant,p.Ser37Tyr,ENST00000375356,;STK19,intron_variant,,ENST00000460018,;SKIV2L,downstream_gene_variant,,ENST00000375394,NM_006929.4;STK19,upstream_gene_variant,,ENST00000375331,NM_004197.1;STK19,upstream_gene_variant,,ENST00000375333,NM_032454.1;SKIV2L,downstream_gene_variant,,ENST00000491994,;DXO,upstream_gene_variant,,ENST00000495340,;DXO,non_coding_transcript_exon_variant,,ENST00000474587,;DXO,non_coding_transcript_exon_variant,,ENST00000487914,;DXO,intron_variant,,ENST00000478221,;SKIV2L,downstream_gene_variant,,ENST00000471818,;SKIV2L,downstream_gene_variant,,ENST00000461915,;STK19,upstream_gene_variant,,ENST00000463823,;STK19,upstream_gene_variant,,ENST00000466336,;SKIV2L,downstream_gene_variant,,ENST00000470453,;DXO,missense_variant,p.Ser37Tyr,ENST00000480240,;DXO,non_coding_transcript_exon_variant,,ENST00000477826,;DXO,non_coding_transcript_exon_variant,,ENST00000473976,;DXO,non_coding_transcript_exon_variant,,ENST00000485557,;DXO,non_coding_transcript_exon_variant,,ENST00000498357,;DXO,non_coding_transcript_exon_variant,,ENST00000492946,;DXO,non_coding_transcript_exon_variant,,ENST00000491327,;DXO,non_coding_transcript_exon_variant,,ENST00000460058,;STK19,intron_variant,,ENST00000466132,;SKIV2L,downstream_gene_variant,,ENST00000465703,;SKIV2L,downstream_gene_variant,,ENST00000474839,;STK19,upstream_gene_variant,,ENST00000473983,;STK19,upstream_gene_variant,,ENST00000492583,;STK19,upstream_gene_variant,,ENST00000479644,;SKIV2L,downstream_gene_variant,,ENST00000483553,;STK19,upstream_gene_variant,,ENST00000491861,;STK19,upstream_gene_variant,,ENST00000519179,;STK19,upstream_gene_variant,,ENST00000483801,;STK19,upstream_gene_variant,,ENST00000469907,;SKIV2L,downstream_gene_variant,,ENST00000484835,;SKIV2L,downstream_gene_variant,,ENST00000494058,;STK19,upstream_gene_variant,,ENST00000478486,;SKIV2L,downstream_gene_variant,,ENST00000485349,;STK19,upstream_gene_variant,,ENST00000484540,;STK19,upstream_gene_variant,,ENST00000471028,;	T	ENST00000375349	Transcript	missense_variant	522/1667	110/1191	37/396	S/Y	tCt/tAt		1		-1	DXO	HGNC	HGNC:2992	protein_coding	YES	CCDS4732.1	ENSP00000364498	O77932	A0A024RCW8	UPI00000710F6		deleterious(0.01)		2/7		hmmpanther:PTHR12395,hmmpanther:PTHR12395:SF9																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	73	31971566	31971566	G	T	1	0	0	0	0	1	0	0	0	4660	942	33	2		2	DXO	6	31971566	Missense_Mutation	SNP	G	C3N-01074_TP	2298655	31971566	138834413	160	23597											
PRRT1	0	.	GRCh38	chr6	32150480	32150480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacagtccccgcgtgcgtgGgcaccacgaagccaggggcc	7	3	14	17	4	0	0	0	0	0	0	1	1	1	0	6	3	2	1	6	3	1	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.446C>T	p.Pro149Leu	p.P149L	ENST00000211413	2/4	84	72	12	65	65	0	strelka-varscan	PRRT1,missense_variant,p.Pro149Leu,ENST00000211413,NM_030651.3;PRRT1,missense_variant,p.Pro68Leu,ENST00000375150,;PPT2,upstream_gene_variant,,ENST00000395523,;PPT2,upstream_gene_variant,,ENST00000324816,NM_001204103.1,NM_005155.6;PPT2,upstream_gene_variant,,ENST00000375137,;PPT2,upstream_gene_variant,,ENST00000361568,NM_138717.2;PPT2,upstream_gene_variant,,ENST00000375143,;PPT2,upstream_gene_variant,,ENST00000414204,;PPT2,upstream_gene_variant,,ENST00000424499,;PRRT1,downstream_gene_variant,,ENST00000428778,;PRRT1,intron_variant,,ENST00000472641,;PRRT1,upstream_gene_variant,,ENST00000467780,;PPT2-EGFL8,upstream_gene_variant,,ENST00000453656,;PPT2,upstream_gene_variant,,ENST00000493548,;PRRT1,downstream_gene_variant,,ENST00000486917,;PPT2,upstream_gene_variant,,ENST00000478521,;PRRT1,downstream_gene_variant,,ENST00000485392,;PRRT1,downstream_gene_variant,,ENST00000498575,;PRRT1,downstream_gene_variant,,ENST00000497552,;PRRT1,downstream_gene_variant,,ENST00000475826,;PRRT1,downstream_gene_variant,,ENST00000494332,;PPT2,upstream_gene_variant,,ENST00000465047,;PRRT1,non_coding_transcript_exon_variant,,ENST00000495191,;PPT2-EGFL8,upstream_gene_variant,,ENST00000422437,;PPT2-EGFL8,upstream_gene_variant,,ENST00000428388,;PPT2-EGFL8,upstream_gene_variant,,ENST00000583227,;PPT2-EGFL8,upstream_gene_variant,,ENST00000585246,;PPT2,upstream_gene_variant,,ENST00000436118,;	A	ENST00000211413	Transcript	missense_variant	571/1909	446/921	149/306	P/L	cCc/cTc		1		-1	PRRT1	HGNC	HGNC:13943	protein_coding	YES	CCDS4739.1	ENSP00000211413	Q99946		UPI000012FFED	NM_030651.3	deleterious_low_confidence(0.02)		2/4		hmmpanther:PTHR14948,hmmpanther:PTHR14948:SF21																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	32150480	32150480	G	A	1	0	0	0	0	1	0	0	0	12755	1232	43	3		3	PRRT1	6	32150480	Missense_Mutation	SNP	G	C3N-01074_TP	178914	32150480	138655499	161	23598											
PI16	0	.	GRCh38	chr6	36963612	36963612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcagtcgtccttgccaGgtaaggcccatagcatctgt	7	11	10	13	1	2	0	0	0	2	0	4	0	3	0	3	2	3	3	3	2	2	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1270G>A	p.Gly424Ser	p.G424S	ENST00000373674	5/7	106	82	24	117	117	0	strelka-varscan	PI16,missense_variant,p.Gly424Ser,ENST00000373674,NM_153370.2;PI16,missense_variant,p.Gly424Ser,ENST00000611814,NM_001199159.1;MTCH1,downstream_gene_variant,,ENST00000373627,NM_001271641.1;MTCH1,downstream_gene_variant,,ENST00000373616,NM_014341.2;PI16,intron_variant,,ENST00000491324,;	A	ENST00000373674	Transcript	missense_variant,splice_region_variant	1598/2190	1270/1392	424/463	G/S	Ggt/Agt		1		1	PI16	HGNC	HGNC:21245	protein_coding	YES	CCDS34440.1	ENSP00000362778	Q6UXB8		UPI000004C657	NM_153370.2	deleterious(0.02)		5/7																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	36963612	36963612	G	A	1	0	0	0	0	1	0	0	0	11958	1014	35	3		3	PI16	6	36963612	Missense_Mutation	SNP	G	C3N-01074_TP	4813132	36963612	133842367	162	23599											
LRFN2	0	.	GRCh38	chr6	40392425	40392425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagccccgcagcctcccCactgcccagggagctggagg	6	4	12	19	1	0	0	0	0	0	0	2	2	2	2	7	3	4	2	7	3	0	0			C3N-01074_TP	C3N-01074_NB	C	C																c.1888G>T	p.Gly630Trp	p.G630W	ENST00000338305	3/3	161	111	50	162	162	0	strelka-varscan	LRFN2,missense_variant,p.Gly630Trp,ENST00000338305,NM_020737.2;	A	ENST00000338305	Transcript	missense_variant	2431/3270	1888/2370	630/789	G/W	Ggg/Tgg	COSM3697857	1		-1	LRFN2	HGNC	HGNC:21226	protein_coding	YES	CCDS34443.1	ENSP00000345985	Q9ULH4		UPI00001C1E47	NM_020737.2	deleterious(0.02)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	73	40392425	40392425	C	A	1	0	0	0	0	1	0	0	0	8832	594	21	2		2	LRFN2	6	40392425	Missense_Mutation	SNP	C	C3N-01074_TP	3428813	40392425	130413554	163	23600											
EYS	0	.	GRCh38	chr6	64590858	64590858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagagatagtttgtgaaGggacaatggataaacaagtc	16	9	12	4	0	0	3	0	2	0	1	1	6	0	5	0	2	1	1	0	2	7	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.5009C>A	p.Pro1670His	p.P1670H	ENST00000370621	26/44	208	152	56	276	275	1	strelka-varscan-mutect	EYS,missense_variant,p.Pro1670His,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Pro1670His,ENST00000370621,NM_001292009.1;EYS,downstream_gene_variant,,ENST00000330816,;	T	ENST00000370621	Transcript	missense_variant	5536/10485	5009/9498	1670/3165	P/H	cCt/cAt		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	deleterious_low_confidence(0)		26/44																			MODERATE	1	SNV	1			1										PASS		rs1477933157	.												T	3	4	73	64590858	64590858	G	T	1	0	0	0	0	1	0	0	0	5200	1000	35	2		2	EYS	6	64590858	Missense_Mutation	SNP	G	C3N-01074_TP	24198433	64590858	106215121	164	23601											
EYS	0	.	GRCh38	chr6	64591333	64591333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtactgaaccggtgcagagCtgatgagtttaagatggtta	11	12	13	5	1	0	5	0	3	0	2	0	5	0	5	1	2	4	5	1	2	4	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.4534G>T	p.Ala1512Ser	p.A1512S	ENST00000370621	26/44	503	386	117	501	500	1	strelka-varscan-mutect	EYS,missense_variant,p.Ala1512Ser,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Ala1512Ser,ENST00000370621,NM_001292009.1;EYS,downstream_gene_variant,,ENST00000330816,;	A	ENST00000370621	Transcript	missense_variant	5061/10485	4534/9498	1512/3165	A/S	Gct/Tct		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	tolerated_low_confidence(0.16)		26/44																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	64591333	64591333	C	A	1	0	0	0	0	1	0	0	0	5200	797	28	2		2	EYS	6	64591333	Missense_Mutation	SNP	C	C3N-01074_TP	475	64591333	106214646	165	23602											
SENP6	0	.	GRCh38	chr6	75697501	75697501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagaaggattttatttttGtaccccttaatgaagcgtga	11	16	9	5	1	0	3	0	3	0	1	0	5	0	4	2	1	2	1	2	1	5	7	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.2272G>T	p.Val758Leu	p.V758L	ENST00000447266	18/24	152	129	23	192	192	0	strelka-varscan-mutect	SENP6,missense_variant,p.Val758Leu,ENST00000447266,NM_015571.3;SENP6,missense_variant,p.Val751Leu,ENST00000370010,NM_001100409.2;SENP6,missense_variant,p.Val374Leu,ENST00000503501,;SENP6,non_coding_transcript_exon_variant,,ENST00000474906,;	T	ENST00000447266	Transcript	missense_variant	2750/6501	2272/3339	758/1112	V/L	Gta/Tta		1		1	SENP6	HGNC	HGNC:20944	protein_coding	YES	CCDS47454.1	ENSP00000402527	Q9GZR1		UPI0000141B65	NM_015571.3	deleterious(0)		18/24		Gene3D:1euvA02,Pfam_domain:PF02902,PROSITE_profiles:PS50600,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF350,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	75697501	75697501	G	T	1	0	0	0	0	1	0	0	0	14326	1377	48	2		2	SENP6	6	75697501	Missense_Mutation	SNP	G	C3N-01074_TP	11106168	75697501	95108478	166	23603											
TTK	0	.	GRCh38	chr6	80039773	80039773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaacaccatttcagcaGataattaatcagatttctaa	17	11	6	7	0	3	2	2	0	1	2	3	3	3	3	1	1	2	1	1	1	5	5	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.2208G>T	p.Gln736His	p.Q736H	ENST00000369798	19/22	215	145	70	248	247	1	strelka-varscan-mutect	TTK,missense_variant,p.Gln735His,ENST00000509894,;TTK,missense_variant,p.Gln735His,ENST00000230510,NM_001166691.1;TTK,missense_variant,p.Gln736His,ENST00000369798,NM_003318.4;TTK,non_coding_transcript_exon_variant,,ENST00000504590,;	T	ENST00000369798	Transcript	missense_variant	2319/3010	2208/2574	736/857	Q/H	caG/caT		1		1	TTK	HGNC	HGNC:12401	protein_coding	YES	CCDS4993.1	ENSP00000358813	P33981		UPI0000073C7B	NM_003318.4	tolerated(1)		19/22		PROSITE_profiles:PS50011,hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF21,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	80039773	80039773	G	T	1	0	0	0	0	1	0	0	0	17232	933	33	2		2	TTK	6	80039773	Missense_Mutation	SNP	G	C3N-01074_TP	4342272	80039773	90766206	167	23604											
TBX18	0	.	GRCh38	chr6	84763941	84763941	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgagccggcccagacgtcgCcccagccggcggcgggagcg	5	1	17	18	8	0	1	0	0	0	1	1	3	0	2	6	4	3	0	6	4	0	0			C3N-01074_TP	C3N-01074_NB	C	C																c.241G>T	p.Ala81Ser	p.A81S	ENST00000369663	1/8	173	117	56	174	174	0	strelka-varscan-mutect	TBX18,missense_variant,p.Ala81Ser,ENST00000369663,NM_001080508.2;TBX18,upstream_gene_variant,,ENST00000606784,;TBX18,upstream_gene_variant,,ENST00000606325,;TBX18,upstream_gene_variant,,ENST00000606621,;TBX18,upstream_gene_variant,,ENST00000606521,;	A	ENST00000369663	Transcript	missense_variant	579/6245	241/1824	81/607	A/S	Gcg/Tcg	COSM5622482	1		-1	TBX18	HGNC	HGNC:11595	protein_coding	YES	CCDS34495.1	ENSP00000358677	O95935		UPI00001A3A8A	NM_001080508.2	tolerated(0.8)		1/8		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF20											1						MODERATE	1	SNV	1		1	1										PASS		rs1045759239	.												A	3	1	73	84763941	84763941	C	A	1	0	0	0	0	1	0	0	0	16058	739	26	2		2	TBX18	6	84763941	Missense_Mutation	SNP	C	C3N-01074_TP	4724168	84763941	86042038	168	23605											
ASCC3	0	.	GRCh38	chr6	100601932	100601932	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtcagagagcactcctaaTaaactatatagtgaacaaga	17	9	8	7	0	1	3	1	1	0	2	2	4	2	3	1	1	3	1	1	1	8	5	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.5181A>T	p.Leu1727Phe	p.L1727F	ENST00000369162	34/42	319	271	48	303	303	0	strelka-varscan-mutect	ASCC3,missense_variant,p.Leu1727Phe,ENST00000369162,NM_006828.3;	A	ENST00000369162	Transcript	missense_variant	5526/8146	5181/6609	1727/2202	L/F	ttA/ttT		1		-1	ASCC3	HGNC	HGNC:18697	protein_coding	YES	CCDS5046.1	ENSP00000358159	Q8N3C0		UPI000014145A	NM_006828.3	deleterious(0.02)		34/42		PROSITE_profiles:PS51194,PIRSF_domain:PIRSF039073,Superfamily_domains:SSF46785																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	100601932	100601932	T	A	1	0	0	0	0	1	0	0	0	1175	1420	49	4		4	ASCC3	6	100601932	Missense_Mutation	SNP	T	C3N-01074_TP	15837991	100601932	70204047	169	23606											
LAMA4	0	.	GRCh38	chr6	112216464	112216464	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgaaagaatccagcattGcatttctgcaacagacacac	14	9	8	10	0	1	3	0	1	1	2	2	3	2	3	1	0	4	3	1	0	3	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.201C>A	p.Cys67Ter	p.C67*	ENST00000230538	3/39	507	433	74	520	518	2	strelka-varscan-mutect	LAMA4,stop_gained,p.Cys67Ter,ENST00000230538,NM_001105206.2;LAMA4,stop_gained,p.Cys67Ter,ENST00000522006,NM_001105207.2,NM_002290.4;LAMA4,stop_gained,p.Cys67Ter,ENST00000389463,;LAMA4,stop_gained,p.Cys67Ter,ENST00000424408,;LAMA4,stop_gained,p.Cys67Ter,ENST00000521398,;LAMA4,stop_gained,p.Cys67Ter,ENST00000431543,;LAMA4,stop_gained,p.Cys67Ter,ENST00000519932,;LAMA4,stop_gained,p.Cys67Ter,ENST00000243219,;LAMA4,stop_gained,p.Cys67Ter,ENST00000521690,;RP1-142L7.9,downstream_gene_variant,,ENST00000603682,;LAMA4,non_coding_transcript_exon_variant,,ENST00000524032,;LAMA4,upstream_gene_variant,,ENST00000423735,;	T	ENST00000230538	Transcript	stop_gained	599/6547	201/5472	67/1823	C/*	tgC/tgA		1		-1	LAMA4	HGNC	HGNC:6484	protein_coding	YES	CCDS43491.1	ENSP00000230538		A0A0A0MQS9	UPI000153D541	NM_001105206.2			3/39		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF277																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	73	112216464	112216464	G	T	1	0	0	0	0	0	1	0	0	8512	1333	46	2		2	LAMA4	6	112216464	Nonsense_Mutation	SNP	G	C3N-01074_TP	11614532	112216464	58589515	170	23607											
VGLL2	0	.	GRCh38	chr6	117270984	117270984	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaggcgagccggcgggcgCcgcgtgggccgggcccgggg	4	1	22	14	8	0	0	0	0	0	0	0	1	0	0	4	7	1	0	4	7	1	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.833C>A	p.Ala278Asp	p.A278D	ENST00000326274	3/4	21	15	6	27	27	0	strelka-varscan-mutect	VGLL2,missense_variant,p.Ala278Asp,ENST00000326274,NM_182645.3;VGLL2,intron_variant,,ENST00000352536,NM_153453.1;	A	ENST00000326274	Transcript	missense_variant	1023/2212	833/954	278/317	A/D	gCc/gAc		1		1	VGLL2	HGNC	HGNC:20232	protein_coding	YES	CCDS5115.1	ENSP00000320957	Q8N8G2		UPI000006FF57	NM_182645.3	tolerated(0.09)		3/4		Low_complexity_(Seg):seg,hmmpanther:PTHR15950,hmmpanther:PTHR15950:SF17																	MODERATE	1	SNV	1			1										PASS		rs1319613362	.												A	3	1	73	117270984	117270984	C	A	1	0	0	0	0	1	0	0	0	17705	739	26	2		2	VGLL2	6	117270984	Missense_Mutation	SNP	C	C3N-01074_TP	5054520	117270984	53534995	171	23608											
NUS1	0	.	GRCh38	chr6	117675971	117675971	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagaagctgcctgtgcatAtgggcctggtgatcaccgag	8	9	15	9	1	1	2	1	1	0	1	1	4	1	2	3	3	3	2	3	3	2	1	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.301A>T	p.Met101Leu	p.M101L	ENST00000368494	1/5	234	196	38	314	313	1	strelka-varscan-mutect	NUS1,missense_variant,p.Met101Leu,ENST00000368494,NM_138459.3;	T	ENST00000368494	Transcript	missense_variant	470/4676	301/882	101/293	M/L	Atg/Ttg		1		1	NUS1	HGNC	HGNC:21042	protein_coding	YES	CCDS5118.1	ENSP00000357480	Q96E22		UPI000006FECA	NM_138459.3	tolerated(0.56)		1/5		Gene3D:1uehA00,hmmpanther:PTHR21528,hmmpanther:PTHR21528:SF0,Superfamily_domains:SSF64005																	MODERATE	1	SNV	1			1										PASS		rs988797644	.												T	3	4	73	117675971	117675971	A	T	1	0	0	0	0	1	0	0	0	10843	449	16	4		4	NUS1	6	117675971	Missense_Mutation	SNP	A	C3N-01074_TP	404987	117675971	53130008	172	23609											
TRDN	0	.	GRCh38	chr6	123438117	123438117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttttctttttgatatcttCtttttctgctggtaaaataa	9	22	4	6	0	4	1	0	1	4	0	4	1	4	1	0	1	1	2	0	1	4	10			C3N-01074_TP	C3N-01074_NB	C	C																c.997G>A	p.Glu333Lys	p.E333K	ENST00000334268	12/41	182	116	66	177	175	2	strelka-varscan-mutect	TRDN,missense_variant,p.Glu333Lys,ENST00000334268,NM_006073.3;RP11-532N4.2,intron_variant,,ENST00000587106,;RP11-532N4.2,upstream_gene_variant,,ENST00000625262,;RP11-532N4.2,upstream_gene_variant,,ENST00000629087,;RP11-532N4.2,upstream_gene_variant,,ENST00000418467,;RP11-532N4.2,upstream_gene_variant,,ENST00000589182,;RP11-532N4.2,upstream_gene_variant,,ENST00000628939,;RP11-532N4.2,upstream_gene_variant,,ENST00000587049,;RP11-532N4.2,upstream_gene_variant,,ENST00000610906,;RP11-532N4.2,upstream_gene_variant,,ENST00000618357,;RP11-532N4.2,upstream_gene_variant,,ENST00000434768,;RP11-532N4.2,upstream_gene_variant,,ENST00000625415,;RP11-532N4.2,upstream_gene_variant,,ENST00000619147,;RP11-532N4.2,upstream_gene_variant,,ENST00000615864,;RP11-532N4.2,upstream_gene_variant,,ENST00000427828,;	T	ENST00000334268	Transcript	missense_variant	1315/4770	997/2190	333/729	E/K	Gaa/Aaa	COSM1072861	1		-1	TRDN	HGNC	HGNC:12261	protein_coding	YES	CCDS55053.1	ENSP00000333984	Q13061		UPI0000D820CC	NM_006073.3	tolerated_low_confidence(0.1)		12/41		Low_complexity_(Seg):seg,hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	73	123438117	123438117	C	T	1	0	0	0	0	1	0	0	0	16957	927	32	3		3	TRDN	6	123438117	Missense_Mutation	SNP	C	C3N-01074_TP	5762146	123438117	47367862	173	23610											
ARFGEF3	0	.	GRCh38	chr6	138334778	138334778	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacatgggcgagtccctgAgcctgaaggccggtggtggg	7	6	18	10	2	0	2	0	2	0	0	1	3	1	2	3	5	2	1	3	5	1	0	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.5932A>C	p.Ser1978Arg	p.S1978R	ENST00000251691	33/34	109	96	13	158	158	0	strelka-varscan-mutect	ARFGEF3,missense_variant,p.Ser1978Arg,ENST00000251691,NM_020340.4;	C	ENST00000251691	Transcript	missense_variant	6098/14877	5932/6534	1978/2177	S/R	Agc/Cgc		1		1	ARFGEF3	HGNC	HGNC:21213	protein_coding	YES	CCDS5189.2	ENSP00000251691	Q5TH69		UPI000150AF4A	NM_020340.4	tolerated(0.41)		33/34																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	73	138334778	138334778	A	C	1	0	0	0	0	1	0	0	0	977	304	11	5		5	ARFGEF3	6	138334778	Missense_Mutation	SNP	A	C3N-01074_TP	14896661	138334778	32471201	174	23611											
NMBR	0	.	GRCh38	chr6	142075745	142075745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagagatgtcatacgcaccGctgaagagctgagtaggtag	12	8	13	8	2	2	4	2	2	0	2	2	5	2	4	1	1	2	5	1	1	4	3	rs768869842		C3N-01074_TP	C3N-01074_NB	G	G																c.1076C>G	p.Ala359Gly	p.A359G	ENST00000258042	3/3	316	259	57	297	297	0	strelka-varscan-mutect	NMBR,missense_variant,p.Ala359Gly,ENST00000258042,NM_002511.2;NMBR,splice_region_variant,,ENST00000480652,;	C	ENST00000258042	Transcript	missense_variant	1217/1354	1076/1173	359/390	A/G	gCg/gGg	rs768869842	1		-1	NMBR	HGNC	HGNC:7843	protein_coding	YES	CCDS5196.1	ENSP00000258042	P28336		UPI000013CFAB	NM_002511.2	tolerated(0.13)		3/3		hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF53,Prints_domain:PR00639																	MODERATE	1	SNV	1			1										PASS		rs768869842	.												C	3	2	73	142075745	142075745	G	C	1	0	0	0	0	1	0	0	0	10525	1087	38	4		4	NMBR	6	142075745	Missense_Mutation	SNP	G	C3N-01074_TP	3740967	142075745	28730234	175	23612											
PEX3	0	.	GRCh38	chr6	143468159	143468161	+	In_Frame_Del	DEL	ATA	ATA	-																															aaatatgggaggatctgaagAtaataagtaagcctgcatat																								novel		C3N-01074_TP	C3N-01074_NB	ATA	ATA																c.329_331delTAA	p.Ile110del	p.I110del	ENST00000367591	4/12	281	236	45	324	324	0	sindel-varindel-pindel	PEX3,inframe_deletion,p.Ile110del,ENST00000367591,NM_003630.2;PEX3,inframe_deletion,p.Ile66del,ENST00000367592,;	-	ENST00000367591	Transcript	inframe_deletion	388-390/1969	325-327/1122	109/373	I/-	ATA/-		1		1	PEX3	HGNC	HGNC:8858	protein_coding	YES	CCDS5199.1	ENSP00000356563	P56589		UPI00001316E1	NM_003630.2			4/12		hmmpanther:PTHR28080,hmmpanther:PTHR28080:SF1,Pfam_domain:PF04882																	MODERATE	1	deletion	1	4		1										PASS		.	.												-	7	5	73	143468159	143468159	ATA	-	1	0	1	0	1	0	0	0	0	11837	333	12	0		0	PEX3	6	143468159	In_Frame_Del	DEL	ATA	C3N-01074_TP	1392414	143468159	27337820	176	23613											
SYNE1	0	.	GRCh38	chr6	152505226	152505226	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatctagcagtcttgggatCcccagttctgtttcggcgat	6	13	12	10	2	3	0	0	0	3	0	5	3	4	2	2	3	1	3	2	3	1	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.753G>T	p.=	p.G251G	ENST00000367255	9/146	387	333	54	339	339	0	strelka-varscan-mutect	SYNE1,synonymous_variant,p.=,ENST00000367255,NM_182961.3;SYNE1,synonymous_variant,p.=,ENST00000423061,NM_033071.3;SYNE1,synonymous_variant,p.=,ENST00000341594,;SYNE1,synonymous_variant,p.=,ENST00000367248,;SYNE1,synonymous_variant,p.=,ENST00000367253,;SYNE1,synonymous_variant,p.=,ENST00000413186,;SYNE1,synonymous_variant,p.=,ENST00000537750,;SYNE1,synonymous_variant,p.=,ENST00000466159,;SYNE1,synonymous_variant,p.=,ENST00000610489,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	A	ENST00000367255	Transcript	synonymous_variant	1355/27748	753/26394	251/8797	G	ggG/ggT		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			9/146		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00033,Superfamily_domains:SSF47576																	LOW	1	SNV	1			1										PASS		rs1259174577	.												A	2	1	73	152505226	152505226	C	A	1	0	0	0	0	0	0	0	1	15837	842	30	2		2	SYNE1	6	152505226	Silent	SNP	C	C3N-01074_TP	9037067	152505226	18300753	177	23614											
ELFN1	0	.	GRCh38	chr7	1746115	1746115	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcctgcggccggcgaggtgGagcagtacaagctggtggag	7	6	19	9	3	0	0	0	0	0	0	0	3	0	2	2	6	5	3	2	6	2	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1519G>T	p.Glu507Ter	p.E507*	ENST00000424383	3/3	130	87	43	144	144	0	strelka-varscan-mutect	ELFN1,stop_gained,p.Glu507Ter,ENST00000424383,;ELFN1,stop_gained,p.Glu507Ter,ENST00000561626,NM_001128636.2;ELFN1-AS1,upstream_gene_variant,,ENST00000453348,;ELFN1-AS1,upstream_gene_variant,,ENST00000415399,;	T	ENST00000424383	Transcript	stop_gained	2006/3845	1519/2487	507/828	E/*	Gag/Tag		1		1	ELFN1	HGNC	HGNC:33154	protein_coding	YES	CCDS59046.1	ENSP00000456548	P0C7U0		UPI0000251E11				3/3		hmmpanther:PTHR24367:SF34,hmmpanther:PTHR24367																	HIGH		SNV	5			1										PASS		rs1205018884	.												T	4	4	73	1746115	1746115	G	T	1	0	0	0	0	0	1	0	0	4891	1175	41	2		2	ELFN1	7	1746115	Nonsense_Mutation	SNP	G	C3N-01074_TP		1746115	157599858	178	23615											
SDK1	0	.	GRCh38	chr7	4220267	4220267	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcacagccgggccagccGagggtaagtggaactccagg	11	5	14	11	2	1	0	1	0	0	0	2	2	2	1	4	4	3	1	4	4	3	2	rs200608621		C3N-01074_TP	C3N-01074_NB	G	G																c.5698G>T	p.Glu1900Ter	p.E1900*	ENST00000404826	39/45	108	76	32	95	95	0	strelka-varscan-mutect	SDK1,stop_gained,p.Glu1900Ter,ENST00000404826,NM_152744.3;SDK1,stop_gained,p.Glu1900Ter,ENST00000615806,;SDK1,stop_gained,p.Glu1880Ter,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;	T	ENST00000404826	Transcript	stop_gained	5837/10397	5698/6642	1900/2213	E/*	Gag/Tag	rs200608621,COSM4776107	1		1	SDK1	HGNC	HGNC:19307	protein_coding	YES	CCDS34590.1	ENSP00000385899	Q7Z5N4		UPI0000DBEEC4	NM_152744.3			39/45		hmmpanther:PTHR10489:SF36,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Superfamily_domains:SSF49265											0,1						HIGH	1	SNV	5		0,1	1										PASS		rs200608621	.												T	4	4	73	4220267	4220267	G	T	1	0	0	0	0	0	1	0	0	14243	1072	37	1		1	SDK1	7	4220267	Nonsense_Mutation	SNP	G	C3N-01074_TP	2474152	4220267	155125706	179	23616											
PAPOLB	0	.	GRCh38	chr7	4860325	4860325	+	Frame_Shift_Del	DEL	G	G	-																															cacatgatgaggcagcagctGgtgaagttcctttcttctta																								novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1486delC	p.Gln496SerfsTer21	p.Q496Sfs*21	ENST00000404991	1/1	371	327	44	413	413	0	sindel-varindel-pindel	PAPOLB,frameshift_variant,p.Gln496SerfsTer21,ENST00000404991,NM_020144.4;RADIL,intron_variant,,ENST00000399583,NM_018059.4;RADIL,intron_variant,,ENST00000445392,;	-	ENST00000404991	Transcript	frameshift_variant	1670/4262	1486/1914	496/637	Q/X	Cag/ag		1		-1	PAPOLB	HGNC	HGNC:15970	protein_coding	YES	CCDS78202.1	ENSP00000384700	Q9NRJ5	A4D1Z6	UPI00005CE292	NM_020144.4			1/1		PIRSF_domain:PIRSF018425,hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF19,Superfamily_domains:SSF55003																	HIGH		deletion				1										PASS		.	.												-	7	5	73	4860325	4860325	G	-	1	0	1	0	1	0	0	0	0	11510	1357	47	0		0	PAPOLB	7	4860325	Frame_Shift_Del	DEL	G	C3N-01074_TP	640058	4860325	154485648	180	23617											
TNRC18	0	.	GRCh38	chr7	5388916	5388916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagcctccttggcacccCcgcgccccgcttcggccacc	3	5	11	22	4	0	0	0	0	0	0	2	0	1	0	8	3	1	3	8	3	0	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.908G>T	p.Gly303Val	p.G303V	ENST00000430969	5/30	228	156	72	151	150	1	strelka-varscan-mutect	TNRC18,missense_variant,p.Gly303Val,ENST00000399537,;TNRC18,missense_variant,p.Gly303Val,ENST00000430969,NM_001080495.2;TNRC18,downstream_gene_variant,,ENST00000399434,;TNRC18,upstream_gene_variant,,ENST00000413081,;TNRC18,downstream_gene_variant,,ENST00000434361,;	A	ENST00000430969	Transcript	missense_variant	1257/10562	908/8907	303/2968	G/V	gGg/gTg		1		-1	TNRC18	HGNC	HGNC:11962	protein_coding	YES	CCDS47534.1	ENSP00000395538	O15417		UPI00016632FD	NM_001080495.2	tolerated(0.33)		5/30		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs1006921088	.												A	3	1	73	5388916	5388916	C	A	1	0	0	0	0	1	0	0	0	16812	623	22	2		2	TNRC18	7	5388916	Missense_Mutation	SNP	C	C3N-01074_TP	528591	5388916	153957057	181	23618											
PKD1L1	0	.	GRCh38	chr7	47835029	47835029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggctccactcgggcagacCccggggcttcctgcagaagg	6	6	15	14	2	0	2	0	0	0	2	3	2	2	2	4	5	1	4	4	5	1	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.6065G>A	p.Gly2022Glu	p.G2022E	ENST00000289672	39/57	133	97	36	119	119	0	strelka-varscan-mutect	PKD1L1,missense_variant,p.Gly2022Glu,ENST00000289672,NM_138295.3;HUS1,intron_variant,,ENST00000436444,;	T	ENST00000289672	Transcript	missense_variant	6116/9092	6065/8550	2022/2849	G/E	gGg/gAg		1		-1	PKD1L1	HGNC	HGNC:18053	protein_coding	YES	CCDS34633.1	ENSP00000289672	Q8TDX9		UPI0000130FA9	NM_138295.3	tolerated(0.46)		39/57		hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF145																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	47835029	47835029	C	T	1	0	0	0	0	1	0	0	0	12060	623	22	3		3	PKD1L1	7	47835029	Missense_Mutation	SNP	C	C3N-01074_TP	42446113	47835029	111510944	182	23619											
CLIP2	0	.	GRCh38	chr7	74338709	74338709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcgcggtgggcggcgtgcGctacttcgagtgcccggccc	2	7	18	14	7	0	0	0	0	0	0	1	1	0	0	2	5	3	1	2	5	1	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.383G>A	p.Arg128His	p.R128H	ENST00000223398	3/17	343	282	61	351	351	0	strelka-varscan-mutect	CLIP2,missense_variant,p.Arg128His,ENST00000223398,NM_003388.4;CLIP2,missense_variant,p.Arg128His,ENST00000361545,NM_032421.2;CLIP2,missense_variant,p.Arg128His,ENST00000395060,;	A	ENST00000223398	Transcript	missense_variant	710/5563	383/3141	128/1046	R/H	cGc/cAc		1		1	CLIP2	HGNC	HGNC:2586	protein_coding	YES	CCDS5569.1	ENSP00000223398	Q9UDT6		UPI000007061E	NM_003388.4	deleterious(0)		3/17		Gene3D:2.30.30.190,Pfam_domain:PF01302,PROSITE_patterns:PS00845,PROSITE_profiles:PS50245,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF10,SMART_domains:SM01052,Superfamily_domains:SSF74924																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	74338709	74338709	G	A	1	0	0	0	0	1	0	0	0	3302	1087	38	1		1	CLIP2	7	74338709	Missense_Mutation	SNP	G	C3N-01074_TP	26503680	74338709	85007264	183	23620											
MAGI2	0	.	GRCh38	chr7	78521627	78521627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggttctgctggcggctttGgggtaccgtagtaattgtct	4	15	14	8	2	2	0	0	0	2	0	2	0	2	0	1	5	2	6	1	5	3	6	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.557C>A	p.Pro186Gln	p.P186Q	ENST00000354212	4/22	250	191	59	274	273	1	strelka-varscan-mutect	MAGI2,missense_variant,p.Pro186Gln,ENST00000354212,NM_012301.3;MAGI2,missense_variant,p.Pro186Gln,ENST00000419488,NM_001301128.1;MAGI2,missense_variant,p.Pro23Gln,ENST00000629359,;MAGI2,missense_variant,p.Pro48Gln,ENST00000628980,;MAGI2,missense_variant,p.Pro48Gln,ENST00000535697,;MAGI2,missense_variant,p.Pro186Gln,ENST00000637441,;MAGI2,missense_variant,p.Pro186Gln,ENST00000522391,;MAGI2,missense_variant,p.Pro23Gln,ENST00000626691,;MAGI2,missense_variant,p.Pro23Gln,ENST00000628781,;MAGI2,missense_variant,p.Pro18Gln,ENST00000636717,;MAGI2,5_prime_UTR_variant,,ENST00000630991,;MAGI2,non_coding_transcript_exon_variant,,ENST00000635863,;MAGI2,non_coding_transcript_exon_variant,,ENST00000637728,;MAGI2,non_coding_transcript_exon_variant,,ENST00000517762,;MAGI2,upstream_gene_variant,,ENST00000637824,;MAGI2,missense_variant,p.Pro23Gln,ENST00000637486,;	T	ENST00000354212	Transcript	missense_variant	811/6880	557/4368	186/1455	P/Q	cCa/cAa		1		-1	MAGI2	HGNC	HGNC:18957	protein_coding	YES	CCDS5594.1	ENSP00000346151	Q86UL8		UPI00001615D2	NM_012301.3	deleterious(0)		4/22		Low_complexity_(Seg):seg,hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF27,Pfam_domain:PF00625,Gene3D:3.30.63.10,SMART_domains:SM00072,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	78521627	78521627	G	T	1	0	0	0	0	1	0	0	0	9109	1348	47	2		2	MAGI2	7	78521627	Missense_Mutation	SNP	G	C3N-01074_TP	4182918	78521627	80824346	184	23621											
CACNA2D1	0	.	GRCh38	chr7	81959745	81959745	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccgcttgtatgagcagTcgtgtgtcacatggacatgt	7	13	12	9	2	1	1	1	1	0	0	3	2	2	2	1	1	2	4	1	1	1	2	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.3051A>T	p.=	p.R1017R	ENST00000356860	37/39	391	331	60	412	412	0	strelka-varscan-mutect	CACNA2D1,synonymous_variant,p.=,ENST00000356860,NM_000722.3;CACNA2D1,synonymous_variant,p.=,ENST00000356253,;CACNA2D1,downstream_gene_variant,,ENST00000469297,;	A	ENST00000356860	Transcript	synonymous_variant	3390/7563	3051/3276	1017/1091	R	cgA/cgT		1		-1	CACNA2D1	HGNC	HGNC:1399	protein_coding	YES	CCDS5598.1	ENSP00000349320	P54289		UPI00003674CD	NM_000722.3			37/39		Pfam_domain:PF08473,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	73	81959745	81959745	T	A	1	0	0	0	0	0	0	0	1	2236	1654	58	4		4	CACNA2D1	7	81959745	Silent	SNP	T	C3N-01074_TP	3438118	81959745	77386228	185	23622											
PCLO	0	.	GRCh38	chr7	82953129	82953129	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccagatctttggagggTgatcccaagggccaactggt	11	8	13	9	0	1	2	0	1	1	1	2	4	2	3	3	4	2	0	3	4	3	1	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.7824A>T	p.=	p.S2608S	ENST00000333891	5/25	209	152	57	263	263	0	strelka-varscan-mutect	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	A	ENST00000333891	Transcript	synonymous_variant	8162/20329	7824/15429	2608/5142	S	tcA/tcT		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5			5/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	73	82953129	82953129	T	A	1	0	0	0	0	0	0	0	1	11671	1683	59	4		4	PCLO	7	82953129	Silent	SNP	T	C3N-01074_TP	993384	82953129	76392844	186	23623											
PEX1	0	.	GRCh38	chr7	92499745	92499745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctactctctcgtgcaattaCcccagctagtaaggtttttc	8	15	6	12	1	2	0	0	0	2	0	5	0	2	0	2	1	4	4	2	1	5	6	rs770527236		C3N-01074_TP	C3N-01074_NB	C	C																c.2677G>T	p.Val893Leu	p.V893L	ENST00000248633	16/24	496	407	89	433	433	0	strelka-varscan-mutect	PEX1,missense_variant,p.Val893Leu,ENST00000248633,NM_000466.2;PEX1,missense_variant,p.Val836Leu,ENST00000428214,NM_001282677.1;PEX1,missense_variant,p.Val571Leu,ENST00000438045,NM_001282678.1;PEX1,non_coding_transcript_exon_variant,,ENST00000496420,;PEX1,non_coding_transcript_exon_variant,,ENST00000484913,;PEX1,downstream_gene_variant,,ENST00000496092,;	A	ENST00000248633	Transcript	missense_variant	2773/4385	2677/3852	893/1283	V/L	Gta/Tta	rs770527236	1		-1	PEX1	HGNC	HGNC:8850	protein_coding	YES	CCDS5627.1	ENSP00000248633	O43933		UPI0000001C39	NM_000466.2	deleterious(0.02)		16/24		hmmpanther:PTHR23077:SF12,hmmpanther:PTHR23077,Pfam_domain:PF00004,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs770527236	.												A	3	1	73	92499745	92499745	C	A	1	0	0	0	0	1	0	0	0	11825	507	18	2		2	PEX1	7	92499745	Missense_Mutation	SNP	C	C3N-01074_TP	9546616	92499745	66846228	187	23624											
LMTK2	0	.	GRCh38	chr7	98204056	98204056	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccaagtacttttctccGccgccaccggcccggagcac	8	7	8	18	4	1	0	0	0	1	0	3	1	2	1	6	2	2	2	6	2	2	3	rs371508931		C3N-01074_TP	C3N-01074_NB	G	G																c.4353G>T	p.=	p.P1451P	ENST00000297293	13/14	607	408	199	478	478	0	strelka-varscan-mutect	LMTK2,synonymous_variant,p.=,ENST00000297293,NM_014916.3;	T	ENST00000297293	Transcript	synonymous_variant	4646/8946	4353/4512	1451/1503	P	ccG/ccT	rs371508931,COSM4971609	1		1	LMTK2	HGNC	HGNC:17880	protein_coding	YES	CCDS5654.1	ENSP00000297293	Q8IWU2		UPI000014F277	NM_014916.3			13/14													0,1						LOW	1	SNV	1		0,1	1										PASS		rs371508931	.												T	2	4	73	98204056	98204056	G	T	1	0	0	0	0	0	0	0	1	8786	1074	38	1		1	LMTK2	7	98204056	Silent	SNP	G	C3N-01074_TP	5704311	98204056	61141917	188	23625											
PVRIG	0	.	GRCh38	chr7	100221082	100221082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaccggccccagggccCtgccgcctgggcctccacac	5	4	11	21	2	0	0	0	0	0	0	1	0	1	0	8	3	2	1	8	3	0	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.812C>A	p.Pro271His	p.P271H	ENST00000317271	6/6	195	125	70	176	175	1	strelka-varscan-mutect	PVRIG,missense_variant,p.Pro271His,ENST00000317271,NM_024070.3;GATS,intron_variant,,ENST00000436886,NM_178831.6;GATS,intron_variant,,ENST00000454084,;GATS,intron_variant,,ENST00000440058,;GATS,intron_variant,,ENST00000437485,;GATS,downstream_gene_variant,,ENST00000538588,;PVRIG,downstream_gene_variant,,ENST00000471803,;STAG3,3_prime_UTR_variant,,ENST00000451963,;GATS,intron_variant,,ENST00000328453,;GATS,intron_variant,,ENST00000543273,;GATS,intron_variant,,ENST00000414739,;GATS,intron_variant,,ENST00000435519,;	A	ENST00000317271	Transcript	missense_variant	1175/1583	812/981	271/326	P/H	cCt/cAt		1		1	PVRIG	HGNC	HGNC:32190	protein_coding	YES	CCDS5690.1	ENSP00000316675	Q6DKI7		UPI000013FFF0	NM_024070.3	tolerated(0.17)		6/6		hmmpanther:PTHR39220,hmmpanther:PTHR39220:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	100221082	100221082	C	A	1	0	0	0	0	1	0	0	0	12996	681	24	2		2	PVRIG	7	100221082	Missense_Mutation	SNP	C	C3N-01074_TP	2017026	100221082	59124891	189	23626											
TFR2	0	.	GRCh38	chr7	100629263	100629263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccttaccgttgctcacCatggaggaaaaggtccgcac	10	8	10	13	2	1	1	1	1	0	0	2	3	2	3	4	3	2	3	4	3	3	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1380G>C	p.Met460Ile	p.M460I	ENST00000462107	11/19	682	563	119	529	529	0	strelka-varscan-mutect	TFR2,missense_variant,p.Met460Ile,ENST00000462107,;TFR2,missense_variant,p.Met460Ile,ENST00000223051,NM_003227.3,NM_001206855.1;TFR2,3_prime_UTR_variant,,ENST00000431692,;TFR2,3_prime_UTR_variant,,ENST00000490084,;TFR2,non_coding_transcript_exon_variant,,ENST00000465294,;TFR2,non_coding_transcript_exon_variant,,ENST00000476304,;TFR2,intron_variant,,ENST00000462090,;TFR2,intron_variant,,ENST00000473374,;TFR2,intron_variant,,ENST00000473963,;TFR2,upstream_gene_variant,,ENST00000461176,;TFR2,downstream_gene_variant,,ENST00000473571,;TFR2,downstream_gene_variant,,ENST00000475011,;	G	ENST00000462107	Transcript	missense_variant	1668/3131	1380/2406	460/801	M/I	atG/atC		1		-1	TFR2	HGNC	HGNC:11762	protein_coding	YES	CCDS34707.1	ENSP00000420525	Q9UP52		UPI0000136C99		tolerated(0.09)		11/19		hmmpanther:PTHR10404:SF33,hmmpanther:PTHR10404,Pfam_domain:PF04389,Gene3D:3.40.630.10,Superfamily_domains:SSF53187																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	73	100629263	100629263	C	G	1	0	0	0	0	1	0	0	0	16244	594	21	4		4	TFR2	7	100629263	Missense_Mutation	SNP	C	C3N-01074_TP	408181	100629263	58716710	190	23627											
MUC12	0	.	GRCh38	chr7	100991162	100991162	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacagcttcccacagcatccCcggctccacagacacaacac	12	5	5	19	1	0	1	0	0	0	1	3	1	3	1	4	1	4	3	4	1	2	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.599C>G	p.Pro200Arg	p.P200R	ENST00000536621	2/12	285	245	40	358	358	0	strelka-varscan-mutect	MUC12,missense_variant,p.Pro343Arg,ENST00000379442,;MUC12,missense_variant,p.Pro200Arg,ENST00000536621,NM_001164462.1;	G	ENST00000536621	Transcript	missense_variant	599/16321	599/16008	200/5335	P/R	cCc/cGc		1		1	MUC12	HGNC	HGNC:7510	protein_coding	YES	CCDS55139.1	ENSP00000441929	Q9UKN1		UPI0001B25898	NM_001164462.1	deleterious(0)		2/12		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs1414045561	.												G	3	3	73	100991162	100991162	C	G	1	0	0	0	0	1	0	0	0	9969	623	22	4		4	MUC12	7	100991162	Missense_Mutation	SNP	C	C3N-01074_TP	361899	100991162	58354811	191	23628											
MUC12	0	.	GRCh38	chr7	100991700	100991700	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccctgaaagctccacaacTtcaggccatagtgaagaatc	13	9	7	12	0	1	3	1	2	0	1	4	3	3	3	3	1	2	1	3	1	5	3	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.1137T>G	p.=	p.T379T	ENST00000536621	2/12	565	528	37	655	654	1	varscan-mutect	MUC12,synonymous_variant,p.=,ENST00000379442,;MUC12,synonymous_variant,p.=,ENST00000536621,NM_001164462.1;	G	ENST00000536621	Transcript	synonymous_variant	1137/16321	1137/16008	379/5335	T	acT/acG		1		1	MUC12	HGNC	HGNC:7510	protein_coding	YES	CCDS55139.1	ENSP00000441929	Q9UKN1		UPI0001B25898	NM_001164462.1			2/12		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	73	100991700	100991700	T	G	1	0	0	0	0	0	0	0	1	9969	1596	56	5		5	MUC12	7	100991700	Silent	SNP	T	C3N-01074_TP	538	100991700	58354273	192	23629											
VGF	0	.	GRCh38	chr7	101162801	101162801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggcccccggtcacccgcGggtgagctctgggagttcgg	3	7	17	14	4	2	1	1	1	1	0	3	2	2	2	3	5	1	3	3	5	0	1	rs767612486		C3N-01074_TP	C3N-01074_NB	G	G																c.1126C>A	p.Arg376Ser	p.R376S	ENST00000611537	4/4	214	142	72	190	190	0	strelka-varscan-mutect	VGF,missense_variant,p.Arg376Ser,ENST00000611537,;VGF,3_prime_UTR_variant,,ENST00000249330,NM_003378.3;VGF,3_prime_UTR_variant,,ENST00000445482,;AP1S1,downstream_gene_variant,,ENST00000337619,NM_001283.3;AP1S1,downstream_gene_variant,,ENST00000429457,;MIR4653,downstream_gene_variant,,ENST00000585107,;AP1S1,downstream_gene_variant,,ENST00000443943,;	T	ENST00000611537	Transcript	missense_variant	1331/1622	1126/1134	376/377	R/S	Cgc/Agc	rs767612486	1		-1	VGF	HGNC	HGNC:12684	protein_coding			ENSP00000480817		Q05BJ3	UPI0000E57486				4/4																			MODERATE		SNV	5			1										PASS		rs767612486	.												T	3	4	73	101162801	101162801	G	T	1	0	0	0	0	1	0	0	0	17703	1116	39	1		1	VGF	7	101162801	Missense_Mutation	SNP	G	C3N-01074_TP	171101	101162801	58183172	193	23630											
SPDYE6	0	.	GRCh38	chr7	102348359	102348359	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaaccgtcgtttctggaaCaggactatctgagagcggtt	9	11	13	8	3	2	1	0	1	2	1	3	5	2	4	1	4	3	2	1	4	3	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1074G>T	p.=	p.L358L	ENST00000563237	6/8	309	253	56	395	394	1	strelka-varscan-mutect	SPDYE6,synonymous_variant,p.=,ENST00000563237,NM_001146210.2;	A	ENST00000563237	Transcript	synonymous_variant	1495/1691	1074/1209	358/402	L	ctG/ctT		1		-1	SPDYE6	HGNC	HGNC:35465	protein_coding	YES	CCDS78265.1	ENSP00000485230		A0A096LNU6	UPI0001A5C537	NM_001146210.2			6/8		hmmpanther:PTHR31156,hmmpanther:PTHR31156:SF12,Pfam_domain:PF11357																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	73	102348359	102348359	C	A	1	0	0	0	0	0	0	0	1	15382	465	17	2		2	SPDYE6	7	102348359	Silent	SNP	C	C3N-01074_TP	1185558	102348359	56997614	194	23631											
SPDYE2	0	.	GRCh38	chr7	102554553	102554553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccatcctccctgagcacCacaaggacttcaacagtcag	12	6	6	17	0	2	1	2	1	0	0	4	2	4	2	4	1	2	1	4	1	2	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.355C>A	p.His119Asn	p.H119N	ENST00000507918	3/9	648	579	69	603	603	0	varscan-mutect	SPDYE2,missense_variant,p.His119Asn,ENST00000507918,NM_001031618.3;SPDYE2,missense_variant,p.His119Asn,ENST00000432940,;POLR2J3,intron_variant,,ENST00000513506,;RP11-514P8.7,intron_variant,,ENST00000514917,;SPDYE2,upstream_gene_variant,,ENST00000341656,;POLR2J3,intron_variant,,ENST00000503564,;POLR2J3,intron_variant,,ENST00000506060,;POLR2J3,intron_variant,,ENST00000511773,;POLR2J3,intron_variant,,ENST00000502415,;POLR2J3,intron_variant,,ENST00000504677,;POLR2J3,intron_variant,,ENST00000489144,;POLR2J3,intron_variant,,ENST00000464525,;POLR2J3,intron_variant,,ENST00000379340,;POLR2J3,intron_variant,,ENST00000486319,;POLR2J3,intron_variant,,ENST00000508848,;POLR2J3,intron_variant,,ENST00000507355,;	A	ENST00000507918	Transcript	missense_variant	829/1742	355/1209	119/402	H/N	Cac/Aac		1		1	SPDYE2	HGNC	HGNC:33841	protein_coding	YES	CCDS34716.2	ENSP00000421686	Q495Y8	I6XC90	UPI0001AE70B7	NM_001031618.3	deleterious(0)		3/9		hmmpanther:PTHR31156,hmmpanther:PTHR31156:SF12																	MODERATE	1	SNV	2			1										PASS		rs1185662626	.												A	3	1	73	102554553	102554553	C	A	1	0	0	0	0	1	0	0	0	15378	594	21	2		2	SPDYE2	7	102554553	Missense_Mutation	SNP	C	C3N-01074_TP	206194	102554553	56791420	195	23632											
CPED1	0	.	GRCh38	chr7	121128487	121128487	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctgggacaattccaactgGtaaagcaaaagtgacatttg	14	10	10	7	0	1	1	0	1	1	0	2	2	2	2	1	2	2	2	1	2	6	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1407+1G>C		p.X469_splice	ENST00000310396		158	116	42	145	145	0	strelka-varscan-mutect	CPED1,splice_donor_variant,,ENST00000310396,NM_024913.4;CPED1,splice_donor_variant,,ENST00000450913,NM_001105533.1;CPED1,splice_donor_variant,,ENST00000428526,;CPED1,splice_donor_variant,,ENST00000423795,;CPED1,splice_donor_variant,,ENST00000443817,;	C	ENST00000310396	Transcript	splice_donor_variant	-/5340	1407/3081	469/1026				1		1	CPED1	HGNC	HGNC:26159	protein_coding	YES	CCDS34739.1	ENSP00000309772	A4D0V7		UPI000013C813	NM_024913.4				11/22																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	73	121128487	121128487	G	C	1	0	0	0	0	0	0	1	0	3598	1275	44	4		4	CPED1	7	121128487	Splice_Site	SNP	G	C3N-01074_TP	18573934	121128487	38217486	196	23633											
SPAM1	0	.	GRCh38	chr7	123953636	123953636	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatcaagtggagtatcccaGatagttttcaccttccttct	11	14	6	10	0	3	1	2	0	1	1	5	2	5	2	3	1	0	2	3	1	4	6			C3N-01074_TP	C3N-01074_NB	G	G																c.66G>A	p.=	p.Q22Q	ENST00000340011	3/7	165	131	34	176	176	0	strelka-varscan-mutect	SPAM1,synonymous_variant,p.=,ENST00000340011,NM_003117.4;SPAM1,synonymous_variant,p.=,ENST00000439500,NM_001174046.1,NM_001174045.1;SPAM1,synonymous_variant,p.=,ENST00000460182,NM_001174044.1,NM_153189.2;SPAM1,synonymous_variant,p.=,ENST00000223028,;SPAM1,synonymous_variant,p.=,ENST00000402183,;SPAM1,synonymous_variant,p.=,ENST00000413927,;	A	ENST00000340011	Transcript	synonymous_variant	423/2349	66/1536	22/511	Q	caG/caA	COSM744749,COSM744750	1		1	SPAM1	HGNC	HGNC:11217	protein_coding	YES	CCDS5790.1	ENSP00000345849	P38567		UPI0000072166	NM_003117.4			3/7		hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF20,PIRSF_domain:PIRSF500773,PIRSF_domain:PIRSF038193,Prints_domain:PR00848											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	73	123953636	123953636	G	A	1	0	0	0	0	0	0	0	1	15317	933	33	3		3	SPAM1	7	123953636	Silent	SNP	G	C3N-01074_TP	2825149	123953636	35392337	197	23634											
GRM8	0	.	GRCh38	chr7	126533392	126533392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttttggtcagaagggctgCatagctgaaacacatgccaa	12	10	11	8	0	1	2	1	1	0	1	1	2	1	2	1	2	4	4	1	2	4	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1990G>T	p.Ala664Ser	p.A664S	ENST00000339582	9/11	237	148	89	314	313	1	strelka-varscan-mutect	GRM8,missense_variant,p.Ala664Ser,ENST00000339582,NM_000845.2;GRM8,missense_variant,p.Ala664Ser,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Ala172Ser,ENST00000444921,;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,missense_variant,p.Ala664Ser,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	A	ENST00000339582	Transcript	missense_variant	2799/4057	1990/2727	664/908	A/S	Gca/Tca		1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2	tolerated(0.91)		9/11		Pfam_domain:PF00003,Prints_domain:PR00248,Prints_domain:PR00593,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	126533392	126533392	C	A	1	0	0	0	0	1	0	0	0	6685	710	25	2		2	GRM8	7	126533392	Missense_Mutation	SNP	C	C3N-01074_TP	2579756	126533392	32812581	198	23635											
PRRT4	0	.	GRCh38	chr7	128351164	128351164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagatgagacgctgctgcCtgcgggccaagccccagggg	7	4	16	14	2	0	2	0	1	0	2	0	3	0	2	5	3	4	2	5	3	1	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2392G>T	p.Gly798Cys	p.G798C	ENST00000446477	6/6	191	141	50	188	188	0	strelka-varscan-mutect	PRRT4,missense_variant,p.Gly798Cys,ENST00000446477,NM_001174164.1;PRRT4,missense_variant,p.Gly798Cys,ENST00000535159,;PRRT4,missense_variant,p.Gln327His,ENST00000480290,;PRRT4,3_prime_UTR_variant,,ENST00000489835,NM_001114726.2;PRRT4,downstream_gene_variant,,ENST00000489517,;	A	ENST00000446477	Transcript	missense_variant	2706/3544	2392/2700	798/899	G/C	Ggc/Tgc		1		-1	PRRT4	HGNC	HGNC:37280	protein_coding	YES	CCDS55160.1	ENSP00000415026	C9JH25		UPI0000DD7E1D	NM_001174164.1	tolerated(0.06)		6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR35578,hmmpanther:PTHR35578:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	128351164	128351164	C	A	1	0	0	0	0	1	0	0	0	12758	681	24	2		2	PRRT4	7	128351164	Missense_Mutation	SNP	C	C3N-01074_TP	1817772	128351164	30994809	199	23636											
SMO	0	.	GRCh38	chr7	129205369	129205369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgcacagctacatcgCggccttcggggccgtcacgg	7	6	14	14	5	1	0	1	0	0	0	3	1	1	1	2	5	3	2	2	5	1	2	rs142599757		C3N-01074_TP	C3N-01074_NB	C	C																c.704C>T	p.Ala235Val	p.A235V	ENST00000249373	3/12	359	277	82	325	325	0	strelka-varscan-mutect	SMO,missense_variant,p.Ala235Val,ENST00000249373,NM_005631.4;RP11-286H14.8,downstream_gene_variant,,ENST00000466717,;SMO,upstream_gene_variant,,ENST00000462420,;SMO,upstream_gene_variant,,ENST00000495998,;	T	ENST00000249373	Transcript	missense_variant	984/3738	704/2364	235/787	A/V	gCg/gTg	rs142599757,COSM1226876	1		1	SMO	HGNC	HGNC:11119	protein_coding	YES	CCDS5811.1	ENSP00000249373	Q99835		UPI0000050447	NM_005631.4	deleterious(0.04)		3/12		PROSITE_profiles:PS50261,hmmpanther:PTHR11309:SF35,hmmpanther:PTHR11309,Pfam_domain:PF01534,SMART_domains:SM01330,Prints_domain:PR00489,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs142599757	.												T	3	4	73	129205369	129205369	C	T	1	0	0	0	0	1	0	0	0	15121	768	27	1		1	SMO	7	129205369	Missense_Mutation	SNP	C	C3N-01074_TP	854205	129205369	30140604	200	23637											
TRPV6	0	.	GRCh38	chr7	142885534	142885534	+	Nonsense_Mutation	SNP	C	C	A																															catggggtgtagggccggctCcttgggggcctgaggccgag																								novel		C3N-01074_TP	C3N-01074_NB	C	C																c.103G>T	p.Glu35Ter	p.E35*	ENST00000359396	1/15	62	44	18	49	49	0	strelka-varscan-mutect	TRPV6,stop_gained,p.Glu35Ter,ENST00000359396,NM_018646.5;TRPV6,intron_variant,,ENST00000436401,;RP11-114L10.2,intron_variant,,ENST00000438839,;TRPV6,upstream_gene_variant,,ENST00000615386,;	A	ENST00000359396	Transcript	stop_gained	229/2928	103/2298	35/765	E/*	Gag/Tag		1		-1	TRPV6	HGNC	HGNC:14006	protein_coding	YES		ENSP00000352358	Q9H1D0		UPI00064546CC	NM_018646.5			1/15																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	73	142885534	142885534	C	A	1	0	0	0	0	0	1	0	0	17106	864	30	2		2	TRPV6	7	142885534	Nonsense_Mutation	SNP	C	C3N-01074_TP	13680165	142885534	16460439	201	23638	496	2									
TRPV6	0	.	GRCh38	chr7	142885535	142885535	+	Missense_Mutation	SNP	C	C	A																															atggggtgtagggccggctcCttgggggcctgaggccgagg																								novel		C3N-01074_TP	C3N-01074_NB	C	C																c.102G>T	p.Lys34Asn	p.K34N	ENST00000359396	1/15	61	43	18	50	50	0	strelka-varscan-mutect	TRPV6,missense_variant,p.Lys34Asn,ENST00000359396,NM_018646.5;TRPV6,intron_variant,,ENST00000436401,;RP11-114L10.2,intron_variant,,ENST00000438839,;TRPV6,upstream_gene_variant,,ENST00000615386,;	A	ENST00000359396	Transcript	missense_variant	228/2928	102/2298	34/765	K/N	aaG/aaT		1		-1	TRPV6	HGNC	HGNC:14006	protein_coding	YES		ENSP00000352358	Q9H1D0		UPI00064546CC	NM_018646.5	deleterious_low_confidence(0.03)		1/15																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	142885535	142885535	C	A	1	0	0	0	0	1	0	0	0	17106	680	24	2		2	TRPV6	7	142885535	Missense_Mutation	SNP	C	C3N-01074_TP	1	142885535	16460438	202	23639	496	2									
C7orf34	0	.	GRCh38	chr7	142939575	142939575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgcacggatcctgctGggcactgggagcagggggcg	6	5	21	9	2	0	0	0	0	0	0	1	3	1	3	1	7	3	4	1	7	0	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.29G>T	p.Trp10Leu	p.W10L	ENST00000409607	1/2	68	52	16	66	66	0	strelka-varscan-mutect	C7orf34,missense_variant,p.Trp10Leu,ENST00000409607,NM_178829.4;C7orf34,intron_variant,,ENST00000458732,;KEL,downstream_gene_variant,,ENST00000355265,NM_000420.2;KEL,downstream_gene_variant,,ENST00000470850,;KEL,downstream_gene_variant,,ENST00000465697,;KEL,downstream_gene_variant,,ENST00000478969,;	T	ENST00000409607	Transcript	missense_variant	70/766	29/444	10/147	W/L	tGg/tTg		1		1	C7orf34	HGNC	HGNC:21750	protein_coding	YES	CCDS5876.2	ENSP00000386450	Q96L11		UPI00005A76EA	NM_178829.4	tolerated_low_confidence(0.39)		1/2		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	142939575	142939575	G	T	1	0	0	0	0	1	0	0	0	2139	1357	47	2		2	C7orf34	7	142939575	Missense_Mutation	SNP	G	C3N-01074_TP	54040	142939575	16406398	203	23640											
CTAGE4	0	.	GRCh38	chr7	144185820	144185820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccgagacctggattttacCccaaccccacattctgaagg	11	9	7	14	1	1	2	0	1	1	1	2	4	2	3	6	2	2	0	6	2	3	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2317C>T	p.Pro773Ser	p.P773S	ENST00000486333	1/1	56	47	9	76	76	0	varscan-mutect	CTAGE4,missense_variant,p.Pro773Ser,ENST00000486333,NM_198495.2;ARHGEF35,downstream_gene_variant,,ENST00000378115,NM_001003702.2;	T	ENST00000486333	Transcript	missense_variant	2355/2588	2317/2334	773/777	P/S	Ccc/Tcc		1		1	CTAGE4	HGNC	HGNC:24772	protein_coding	YES	CCDS55176.1	ENSP00000419539	Q8IX94		UPI00001C1E89	NM_198495.2	deleterious(0.03)		1/1		hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF39																	MODERATE		SNV				1										PASS		.	.												T	3	4	73	144185820	144185820	C	T	1	0	0	0	0	1	0	0	0	3798	623	22	3		3	CTAGE4	7	144185820	Missense_Mutation	SNP	C	C3N-01074_TP	1246245	144185820	15160153	204	23641											
CNTNAP2	0	.	GRCh38	chr7	146116884	146116884	+	Missense_Mutation	SNP	C	C	T																															cgggaggcgaaggatgcaggCggctccgcgcgccggctgcg																								novel		C3N-01074_TP	C3N-01074_NB	C	C																c.8C>T	p.Ala3Val	p.A3V	ENST00000361727	1/24	97	69	28	82	82	0	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Ala3Val,ENST00000361727,NM_014141.5;CNTNAP2,missense_variant,p.Ala3Val,ENST00000625365,;CNTNAP2,upstream_gene_variant,,ENST00000637150,;CNTNAP2,upstream_gene_variant,,ENST00000637105,;	T	ENST00000361727	Transcript	missense_variant	526/9896	8/3996	3/1331	A/V	gCg/gTg		1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	tolerated_low_confidence(0.47)		1/24		PROSITE_profiles:PS51257,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	146116884	146116884	C	T	1	0	0	0	0	1	0	0	0	3428	768	27	1		1	CNTNAP2	7	146116884	Missense_Mutation	SNP	C	C3N-01074_TP	1931064	146116884	13229089	205	23642	497	2									
CNTNAP2	0	.	GRCh38	chr7	146116885	146116885	+	Silent	SNP	G	G	T																															gggaggcgaaggatgcaggcGgctccgcgcgccggctgcgg																										C3N-01074_TP	C3N-01074_NB	G	G																c.9G>T	p.=	p.A3A	ENST00000361727	1/24	96	68	28	84	84	0	strelka-varscan-mutect	CNTNAP2,synonymous_variant,p.=,ENST00000361727,NM_014141.5;CNTNAP2,synonymous_variant,p.=,ENST00000625365,;CNTNAP2,upstream_gene_variant,,ENST00000637150,;CNTNAP2,upstream_gene_variant,,ENST00000637105,;	T	ENST00000361727	Transcript	synonymous_variant	527/9896	9/3996	3/1331	A	gcG/gcT	COSM4961903	1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5			1/24		PROSITE_profiles:PS51257,Cleavage_site_(Signalp):SignalP-noTM											1						LOW	1	SNV	1		1	1										PASS		rs1237807319	.												T	2	4	73	146116885	146116885	G	T	1	0	0	0	0	0	0	0	1	3428	1103	39	1		1	CNTNAP2	7	146116885	Silent	SNP	G	C3N-01074_TP	1	146116885	13229088	206	23643	497	2									
CNTNAP2	0	.	GRCh38	chr7	148229676	148229676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gattcgatacaacctgggtgGcacccgagagccatacaata	13	7	10	11	2	0	1	0	0	0	1	1	4	0	1	3	2	4	1	3	2	5	4	rs796052391		C3N-01074_TP	C3N-01074_NB	G	G																c.3278G>T	p.Gly1093Val	p.G1093V	ENST00000361727	20/24	529	457	72	451	450	1	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Gly1093Val,ENST00000361727,NM_014141.5;CNTNAP2,missense_variant,p.Gly152Val,ENST00000628930,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637020,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000627772,;	T	ENST00000361727	Transcript	missense_variant	3796/9896	3278/3996	1093/1331	G/V	gGc/gTc	rs796052391	1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	tolerated(0.26)		20/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644,SMART_domains:SM00282,Superfamily_domains:SSF49899										uncertain_significance							MODERATE	1	SNV	1		1	1										PASS		rs796052391	.												T	3	4	73	148229676	148229676	G	T	1	0	0	0	0	1	0	0	0	3428	1203	42	2		2	CNTNAP2	7	148229676	Missense_Mutation	SNP	G	C3N-01074_TP	2112791	148229676	11116297	207	23644											
GIMAP5	0	.	GRCh38	chr7	150742881	150742881	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacaggcagtaccaggccAaagtggaatggcaggtggag	13	5	15	8	0	0	0	0	0	0	0	0	2	0	2	2	6	2	3	2	6	4	2	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.742A>C	p.Lys248Gln	p.K248Q	ENST00000358647	3/3	315	257	58	299	299	0	strelka-varscan-mutect	GIMAP5,missense_variant,p.Lys248Gln,ENST00000358647,NM_018384.4;GIMAP1-GIMAP5,missense_variant,p.Lys452Gln,ENST00000611999,NM_001199577.1;GIMAP5,missense_variant,p.Lys248Gln,ENST00000498181,;GIMAP5,non_coding_transcript_exon_variant,,ENST00000479556,;GIMAP5,intron_variant,,ENST00000466347,;GIMAP5,downstream_gene_variant,,ENST00000493304,;GIMAP5,non_coding_transcript_exon_variant,,ENST00000476324,;GIMAP5,downstream_gene_variant,,ENST00000469272,;GIMAP3P,downstream_gene_variant,,ENST00000495150,;	C	ENST00000358647	Transcript	missense_variant	1109/2291	742/924	248/307	K/Q	Aaa/Caa		1		1	GIMAP5	HGNC	HGNC:18005	protein_coding	YES	CCDS5907.1	ENSP00000351473	Q96F15		UPI000004EC77	NM_018384.4	tolerated(0.28)		3/3		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10903:SF69,hmmpanther:PTHR10903																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	73	150742881	150742881	A	C	1	0	0	0	0	1	0	0	0	6262	131	5	5		5	GIMAP5	7	150742881	Missense_Mutation	SNP	A	C3N-01074_TP	2513205	150742881	8603092	208	23645											
DPP6	0	.	GRCh38	chr7	154807067	154807067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaactgcacctacttcagcGcttccttcagccatagcatg	10	10	7	14	1	2	1	2	0	0	1	3	1	3	1	3	0	6	3	3	0	3	5	rs755543207		C3N-01074_TP	C3N-01074_NB	G	G																c.1621G>T	p.Ala541Ser	p.A541S	ENST00000377770	16/26	149	116	33	161	159	2	strelka-varscan-mutect	DPP6,missense_variant,p.Ala477Ser,ENST00000404039,NM_001039350.2;DPP6,missense_variant,p.Ala479Ser,ENST00000332007,NM_001936.4;DPP6,missense_variant,p.Ala541Ser,ENST00000377770,NM_130797.3;DPP6,missense_variant,p.Ala434Ser,ENST00000427557,NM_001290252.1;DPP6,non_coding_transcript_exon_variant,,ENST00000493268,;	T	ENST00000377770	Transcript	missense_variant	1762/3710	1621/2598	541/865	A/S	Gct/Tct	rs755543207,COSM4410027,COSM4410028,COSM4410029	1		1	DPP6	HGNC	HGNC:3010	protein_coding	YES	CCDS75683.1	ENSP00000367001	P42658		UPI00001AE746	NM_130797.3	tolerated(0.07)		16/26		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs755543207	.												T	3	4	73	154807067	154807067	G	T	1	0	0	0	0	1	0	0	0	4545	1087	38	1		1	DPP6	7	154807067	Missense_Mutation	SNP	G	C3N-01074_TP	4064186	154807067	4538906	209	23646											
CSMD1	0	.	GRCh38	chr8	2966634	2966634	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgccgtgtcatgagcccTgaggtcttgtagccttccca	7	11	10	13	1	2	2	1	2	1	0	3	2	3	2	4	1	3	1	4	1	2	3			C3N-01074_TP	C3N-01074_NB	T	T																c.9039A>G	p.=	p.S3013S	ENST00000520002	59/71	312	276	36	242	242	0	strelka-varscan-mutect	CSMD1,synonymous_variant,p.=,ENST00000537824,;CSMD1,synonymous_variant,p.=,ENST00000335551,;CSMD1,synonymous_variant,p.=,ENST00000520002,;CSMD1,synonymous_variant,p.=,ENST00000602557,;CSMD1,synonymous_variant,p.=,ENST00000635120,NM_033225.5;CSMD1,intron_variant,,ENST00000400186,;CSMD1,intron_variant,,ENST00000602723,;	C	ENST00000520002	Transcript	synonymous_variant	9595/11740	9039/10698	3013/3565	S	tcA/tcG	COSM4674940,COSM4674941	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB				59/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535											1,1						LOW	1	SNV	5		1,1	1										PASS		rs1326037234	.												C	2	2	73	2966634	2966634	T	C	1	0	0	0	0	0	0	0	1	3745	1567	55	5		5	CSMD1	8	2966634	Silent	SNP	T	C3N-01074_TP		2966634	142172002	210	23647											
CSMD1	0	.	GRCh38	chr8	2978765	2978765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgcccgtgacgaatggCattttccacaaagcctggat	9	11	10	11	2	0	1	0	1	0	0	1	3	1	2	3	2	2	2	3	2	2	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.8416G>T	p.Ala2806Ser	p.A2806S	ENST00000520002	56/71	166	126	40	183	183	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Ala2667Ser,ENST00000537824,;CSMD1,missense_variant,p.Ala2223Ser,ENST00000335551,;CSMD1,missense_variant,p.Ala2806Ser,ENST00000520002,;CSMD1,missense_variant,p.Ala2806Ser,ENST00000602557,;CSMD1,missense_variant,p.Ala2805Ser,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Ala2748Ser,ENST00000400186,;CSMD1,missense_variant,p.Ala2748Ser,ENST00000602723,;	A	ENST00000520002	Transcript	missense_variant	8972/11740	8416/10698	2806/3565	A/S	Gcc/Tcc		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		tolerated(1)		56/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	2978765	2978765	C	A	1	0	0	0	0	1	0	0	0	3745	710	25	2		2	CSMD1	8	2978765	Missense_Mutation	SNP	C	C3N-01074_TP	12131	2978765	142159871	211	23648											
MFHAS1	0	.	GRCh38	chr8	8892734	8892734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggtgaggtggtggccgaGctcggccaccgccgggggca	4	5	19	13	5	0	1	0	1	0	0	2	2	0	1	4	7	1	2	4	7	0	0	rs376520770		C3N-01074_TP	C3N-01074_NB	G	G																c.325C>T	p.Leu109Phe	p.L109F	ENST00000276282	1/3	139	104	35	131	131	0	strelka-varscan-mutect	MFHAS1,missense_variant,p.Leu109Phe,ENST00000276282,NM_004225.2;RNU6-682P,upstream_gene_variant,,ENST00000363843,;	A	ENST00000276282	Transcript	missense_variant	912/6414	325/3159	109/1052	L/F	Ctc/Ttc	rs376520770,COSM4171820	1		-1	MFHAS1	HGNC	HGNC:16982	protein_coding	YES	CCDS34844.1	ENSP00000276282	Q9Y4C4		UPI000013DAB6	NM_004225.2	deleterious(0.01)		1/3		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF9,SMART_domains:SM00369,Superfamily_domains:SSF52058											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs376520770	.												A	3	1	73	8892734	8892734	G	A	1	0	0	0	0	1	0	0	0	9474	971	34	3		3	MFHAS1	8	8892734	Missense_Mutation	SNP	G	C3N-01074_TP	5913969	8892734	136245902	212	23649											
FAM167A	0	.	GRCh38	chr8	11444179	11444179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggggagcaagggctcctgcCccccacgctccccctcctcc	4	5	11	21	1	0	0	0	0	0	0	4	1	4	1	8	3	2	3	8	3	1	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.233G>T	p.Gly78Val	p.G78V	ENST00000284486	2/3	179	109	70	165	163	2	strelka-varscan-mutect	FAM167A,missense_variant,p.Gly78Val,ENST00000284486,NM_053279.2;FAM167A,missense_variant,p.Gly78Val,ENST00000534308,;FAM167A,missense_variant,p.Gly78Val,ENST00000528897,;FAM167A,missense_variant,p.Gly78Val,ENST00000531804,;FAM167A,intron_variant,,ENST00000527445,;FAM167A,upstream_gene_variant,,ENST00000531564,;FAM167A,downstream_gene_variant,,ENST00000528111,;	A	ENST00000284486	Transcript	missense_variant	772/4094	233/645	78/214	G/V	gGg/gTg		1		-1	FAM167A	HGNC	HGNC:15549	protein_coding	YES	CCDS5981.1	ENSP00000284486	Q96KS9		UPI0000127668	NM_053279.2	tolerated(0.15)		2/3		hmmpanther:PTHR32289,hmmpanther:PTHR32289:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	11444179	11444179	C	A	1	0	0	0	0	1	0	0	0	5329	623	22	2		2	FAM167A	8	11444179	Missense_Mutation	SNP	C	C3N-01074_TP	2551445	11444179	133694457	213	23650											
USP17L2	0	.	GRCh38	chr8	12137437	12137437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcttcgttttgttttgctCttgggggaatttccagtggt	4	18	13	6	1	1	0	0	0	1	0	3	1	2	1	1	4	1	4	1	4	1	7	rs760152249		C3N-01074_TP	C3N-01074_NB	C	C																c.1324G>A	p.Glu442Lys	p.E442K	ENST00000333796	1/1	453	173	280	374	374	0	strelka-varscan	USP17L2,missense_variant,p.Glu442Lys,ENST00000333796,NM_201402.2;USP17L7,upstream_gene_variant,,ENST00000530447,NM_001256869.1;FAM66D,intron_variant,,ENST00000434078,;	T	ENST00000333796	Transcript	missense_variant	1641/1910	1324/1593	442/530	E/K	Gag/Aag	rs760152249	1		-1	USP17L2	HGNC	HGNC:34434	protein_coding	YES	CCDS43713.1	ENSP00000333329	Q6R6M4		UPI0000198137	NM_201402.2	deleterious(0.03)		1/1																			MODERATE		SNV				1										PASS		.	.												T	3	4	73	12137437	12137437	C	T	1	0	0	0	0	1	0	0	0	17586	922	32	3		3	USP17L2	8	12137437	Missense_Mutation	SNP	C	C3N-01074_TP	693258	12137437	133001199	214	23651											
ADAM7	0	.	GRCh38	chr8	24482216	24482216	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgaagataaaatagaactAtattcaaatatagaaactac	22	10	4	5	0	1	4	1	1	0	3	1	4	1	4	0	0	3	0	0	0	12	8	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.780A>G	p.=	p.L260L	ENST00000175238	9/22	256	208	48	258	258	0	strelka-varscan-mutect	ADAM7,synonymous_variant,p.=,ENST00000175238,NM_003817.3;ADAM7,synonymous_variant,p.=,ENST00000380789,;ADAM7,synonymous_variant,p.=,ENST00000520720,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;	G	ENST00000175238	Transcript	synonymous_variant	863/3367	780/2265	260/754	L	ctA/ctG		1		1	ADAM7	HGNC	HGNC:214	protein_coding	YES	CCDS6045.1	ENSP00000175238	Q9H2U9		UPI000013C5CC	NM_003817.3			9/22		PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF21,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	73	24482216	24482216	A	G	1	0	0	0	0	0	0	0	1	295	436	16	5		5	ADAM7	8	24482216	Silent	SNP	A	C3N-01074_TP	12344779	24482216	120656420	215	23652											
ADAM7	0	.	GRCh38	chr8	24526768	24526768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttcagcacctcttatatgGaaggcatcaatgagaaccaa	15	10	7	9	0	3	1	2	1	1	1	3	3	3	2	2	2	2	2	2	2	6	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1538G>T	p.Gly513Val	p.G513V	ENST00000520720	15/15	152	130	22	169	169	0	strelka-varscan-mutect	ADAM7,missense_variant,p.Gly513Val,ENST00000520720,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;	T	ENST00000520720	Transcript	missense_variant	1668/1870	1538/1551	513/516	G/V	gGa/gTa		1		1	ADAM7	HGNC	HGNC:214	protein_coding			ENSP00000430400		E5RK87	UPI0001E8EF41		tolerated_low_confidence(0.05)		15/15																			MODERATE	1	SNV	1			1										PASS		rs1368474638	.												T	3	4	73	24526768	24526768	G	T	1	0	0	0	0	1	0	0	0	295	1174	41	2		2	ADAM7	8	24526768	Missense_Mutation	SNP	G	C3N-01074_TP	44552	24526768	120611868	216	23653											
DOCK5	0	.	GRCh38	chr8	25363047	25363047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cactcctctgttctccgcagGacttcctcatggaaactttt	7	14	6	14	1	3	0	1	0	2	0	6	2	5	2	3	2	1	2	3	2	1	4	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.2950G>C	p.Asp984His	p.D984H	ENST00000276440	29/52	188	145	43	206	206	0	strelka-varscan-mutect	DOCK5,missense_variant,p.Asp984His,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.Asp756His,ENST00000444569,;DOCK5,splice_region_variant,,ENST00000467709,;DOCK5,splice_region_variant,,ENST00000481728,;	C	ENST00000276440	Transcript	missense_variant,splice_region_variant	2994/10075	2950/5613	984/1870	D/H	Gac/Cac		1		1	DOCK5	HGNC	HGNC:23476	protein_coding	YES	CCDS6047.1	ENSP00000276440	Q9H7D0		UPI000022D4F3	NM_024940.6	deleterious(0)		29/52		hmmpanther:PTHR23317:SF68,hmmpanther:PTHR23317																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	73	25363047	25363047	G	C	1	0	0	0	0	1	0	0	0	4505	1188	41	4		4	DOCK5	8	25363047	Missense_Mutation	SNP	G	C3N-01074_TP	836279	25363047	119775589	217	23654											
TM2D2	0	.	GRCh38	chr8	38996280	38996280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcgcagcacccccggggcCctccggctgggcggcgccag	3	3	16	19	5	0	0	0	0	0	0	2	0	1	0	5	5	1	4	5	5	0	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.160G>T	p.Gly54Cys	p.G54C	ENST00000456397	1/4	260	216	44	194	194	0	strelka-varscan-mutect	TM2D2,missense_variant,p.Gly54Cys,ENST00000456397,NM_078473.2;TM2D2,5_prime_UTR_variant,,ENST00000397070,NM_031940.3;TM2D2,intron_variant,,ENST00000456845,NM_001024380.1,NM_001024381.1;TM2D2,intron_variant,,ENST00000522142,;TM2D2,intron_variant,,ENST00000517872,;TM2D2,intron_variant,,ENST00000520152,;ADAM9,upstream_gene_variant,,ENST00000487273,NM_003816.2;ADAM9,upstream_gene_variant,,ENST00000481513,;ADAM9,upstream_gene_variant,,ENST00000466936,;TM2D2,intron_variant,,ENST00000522434,;TM2D2,upstream_gene_variant,,ENST00000521060,;TM2D2,non_coding_transcript_exon_variant,,ENST00000519186,;ADAM9,upstream_gene_variant,,ENST00000379917,;ADAM9,upstream_gene_variant,,ENST00000481873,;ADAM9,upstream_gene_variant,,ENST00000468065,;TM2D2,upstream_gene_variant,,ENST00000524331,;	A	ENST00000456397	Transcript	missense_variant	254/3263	160/645	54/214	G/C	Ggc/Tgc		1		-1	TM2D2	HGNC	HGNC:24127	protein_coding	YES	CCDS6111.1	ENSP00000416050	Q9BX73		UPI000006FCA0	NM_078473.2	deleterious_low_confidence(0.05)		1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR21016,hmmpanther:PTHR21016:SF4																	MODERATE	1	SNV	1			1										PASS		rs1455742111	.												A	3	1	73	38996280	38996280	C	A	1	0	0	0	0	1	0	0	0	16409	623	22	2		2	TM2D2	8	38996280	Missense_Mutation	SNP	C	C3N-01074_TP	13633233	38996280	106142356	218	23655											
ADAM32	0	.	GRCh38	chr8	39270912	39270912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcacacagacatatgccagCcagtaagtagtttagaaggt	15	8	10	8	0	0	2	0	0	0	2	0	2	0	2	2	1	3	4	2	1	5	5	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2199C>A	p.Ser733Arg	p.S733R	ENST00000379907	20/25	241	192	49	287	287	0	strelka-varscan-mutect	ADAM32,missense_variant,p.Ser733Arg,ENST00000379907,NM_145004.5;ADAM32,missense_variant,p.Ser634Arg,ENST00000437682,NM_001313994.1;ADAM32,intron_variant,,ENST00000519315,;ADAM32,splice_region_variant,,ENST00000524303,;ADAM32,splice_region_variant,,ENST00000517416,;ADAM32,intron_variant,,ENST00000520691,;	A	ENST00000379907	Transcript	missense_variant,splice_region_variant	2326/2601	2199/2364	733/787	S/R	agC/agA		1		1	ADAM32	HGNC	HGNC:15479	protein_coding	YES	CCDS47846.1	ENSP00000369238	Q8TC27		UPI000013F62F	NM_145004.5	tolerated(0.13)		20/25																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	39270912	39270912	C	A	1	0	0	0	0	1	0	0	0	293	753	26	2		2	ADAM32	8	39270912	Missense_Mutation	SNP	C	C3N-01074_TP	274632	39270912	105867724	219	23656											
SNTG1	0	.	GRCh38	chr8	50449666	50449666	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatatgattttctcttttcAgggaggagcagaacataaca	14	13	8	6	0	2	2	1	1	1	1	3	4	2	4	0	2	3	1	0	2	4	7	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.220-2A>C		p.X74_splice	ENST00000522124		114	101	13	93	93	0	strelka-varscan-mutect	SNTG1,splice_acceptor_variant,,ENST00000522124,NM_018967.3;SNTG1,splice_acceptor_variant,,ENST00000518864,NM_001287813.1;SNTG1,splice_acceptor_variant,,ENST00000517473,NM_001287814.1;SNTG1,splice_acceptor_variant,,ENST00000523085,;SNTG1,splice_acceptor_variant,,ENST00000520825,;	C	ENST00000522124	Transcript	splice_acceptor_variant	-/3504	220/1554	74/517				1		1	SNTG1	HGNC	HGNC:13740	protein_coding	YES	CCDS6147.1	ENSP00000429842	Q9NSN8	A0A024R7Y0	UPI000004A0DD	NM_018967.3				5/18																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	73	50449666	50449666	A	C	1	0	0	0	0	0	0	1	0	15194	202	7	5		5	SNTG1	8	50449666	Splice_Site	SNP	A	C3N-01074_TP	11178754	50449666	94688970	220	23657											
NCOA2	0	.	GRCh38	chr8	70123910	70123910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacccatggaggacagccCtgacgtaggcacggaggtca	10	4	16	11	2	1	1	1	1	0	0	1	5	1	5	2	6	1	2	2	6	1	1	rs771376592		C3N-01074_TP	C3N-01074_NB	C	C																c.4267G>T	p.Gly1423Trp	p.G1423W	ENST00000452400	21/23	180	134	46	127	126	1	strelka-varscan-mutect	NCOA2,missense_variant,p.Gly1423Trp,ENST00000452400,NM_001321703.1,NM_001321707.1,NM_001321713.1,NM_006540.2;NCOA2,missense_variant,p.Gly549Trp,ENST00000518363,;NCOA2,3_prime_UTR_variant,,ENST00000518287,;NCOA2,downstream_gene_variant,,ENST00000521239,;	A	ENST00000452400	Transcript	missense_variant	4449/8447	4267/4395	1423/1464	G/W	Ggg/Tgg	rs771376592	1		-1	NCOA2	HGNC	HGNC:7669	protein_coding	YES	CCDS47872.1	ENSP00000399968	Q15596		UPI000012FE42	NM_001321703.1,NM_001321707.1,NM_001321713.1,NM_006540.2	deleterious(0)		21/23		hmmpanther:PTHR10684:SF2,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181																	MODERATE	1	SNV	1			1										PASS		rs771376592	.												A	3	1	73	70123910	70123910	C	A	1	0	0	0	0	1	0	0	0	10248	681	24	2		2	NCOA2	8	70123910	Missense_Mutation	SNP	C	C3N-01074_TP	19674244	70123910	75014726	221	23658											
ZFHX4	0	.	GRCh38	chr8	76855335	76855335	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgattttgatgagacttcatCgattaatacggcaatcagtg	12	13	9	7	3	2	2	2	2	0	1	3	5	2	2	0	1	1	1	0	1	3	5			C3N-01074_TP	C3N-01074_NB	C	C																c.8414C>A	p.Ser2805Ter	p.S2805*	ENST00000521891	10/11	309	234	75	229	228	1	strelka-varscan-mutect	ZFHX4,stop_gained,p.Ser2805Ter,ENST00000521891,NM_024721.4;ZFHX4,stop_gained,p.Ser2779Ter,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	A	ENST00000521891	Transcript	stop_gained	8862/14019	8414/10851	2805/3616	S/*	tCg/tAg	COSM1101803,COSM4397386	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4			10/11													1,1						HIGH	1	SNV	5		1,1	1										PASS		.	.												A	4	1	73	76855335	76855335	C	A	1	0	0	0	0	0	1	0	0	18213	893	31	1		1	ZFHX4	8	76855335	Nonsense_Mutation	SNP	C	C3N-01074_TP	6731425	76855335	68283301	222	23659											
DPY19L4	0	.	GRCh38	chr8	94766668	94766668	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattccttgaagtaaaattTggactaaatatgaccaagta	18	12	6	5	0	0	2	0	2	0	0	1	3	1	3	2	1	0	2	2	1	9	7	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.1158T>C	p.=	p.F386F	ENST00000414645	11/19	287	204	83	201	201	0	strelka-varscan-mutect	DPY19L4,synonymous_variant,p.=,ENST00000414645,NM_181787.2;DPY19L4,synonymous_variant,p.=,ENST00000523020,;	C	ENST00000414645	Transcript	synonymous_variant	1257/6197	1158/2172	386/723	F	ttT/ttC		1		1	DPY19L4	HGNC	HGNC:27829	protein_coding	YES	CCDS34924.1	ENSP00000389630	Q7Z388	A0A024R9F2	UPI00001A9D7A	NM_181787.2			11/19		hmmpanther:PTHR31488:SF2,hmmpanther:PTHR31488,Pfam_domain:PF10034																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	73	94766668	94766668	T	C	1	0	0	0	0	0	0	0	1	4558	1809	63	5		5	DPY19L4	8	94766668	Silent	SNP	T	C3N-01074_TP	17911333	94766668	50371968	223	23660											
RIMS2	0	.	GRCh38	chr8	103931323	103931323	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttacaattttgggagcaaaaGatctcccttccagggaagat	13	11	9	8	0	1	2	0	0	1	2	3	4	2	4	2	2	2	1	2	2	5	4			C3N-01074_TP	C3N-01074_NB	G	G																c.2305G>C	p.Asp769His	p.D769H	ENST00000504942	12/24	430	318	112	319	319	0	strelka-varscan-mutect	RIMS2,missense_variant,p.Asp561His,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Asp547His,ENST00000436393,;RIMS2,missense_variant,p.Asp769His,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Asp711His,ENST00000626043,;RIMS2,missense_variant,p.Asp561His,ENST00000408894,;RIMS2,missense_variant,p.Asp608His,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Asp757His,ENST00000632716,;RIMS2,missense_variant,p.Asp163His,ENST00000507677,;RIMS2,missense_variant,p.Asp561His,ENST00000515551,;	C	ENST00000504942	Transcript	missense_variant	2444/4228	2305/4050	769/1349	D/H	Gat/Cat	COSM3643558,COSM3643559,COSM3643560,COSM3643561,COSM3643562	1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0)		12/24		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15,SMART_domains:SM00239,Superfamily_domains:SSF49562											1,1,1,1,1						MODERATE	1	SNV	2		1,1,1,1,1	1										PASS		.	.												C	3	2	73	103931323	103931323	G	C	1	0	0	0	0	1	0	0	0	13543	942	33	4		4	RIMS2	8	103931323	Missense_Mutation	SNP	G	C3N-01074_TP	9164655	103931323	41207313	224	23661											
C8orf76	0	.	GRCh38	chr8	123231433	123231433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attactgctattcgcttccaCagaaaataaagagctctcag	14	11	6	10	1	1	2	1	0	1	2	4	2	2	2	1	0	3	3	1	0	6	5	rs756347830		C3N-01074_TP	C3N-01074_NB	C	C																c.682G>T	p.Val228Leu	p.V228L	ENST00000276704	4/6	1831	1354	477	410	409	1	strelka-varscan-mutect	C8orf76,missense_variant,p.Val228Leu,ENST00000276704,NM_032847.2;ZHX1-C8orf76,missense_variant,p.Val196Leu,ENST00000357082,NM_001204180.1;ZHX1-C8orf76,downstream_gene_variant,,ENST00000622816,;C8orf76,non_coding_transcript_exon_variant,,ENST00000521310,;C8orf76,non_coding_transcript_exon_variant,,ENST00000517760,;C8orf76,intron_variant,,ENST00000519791,;C8orf76,non_coding_transcript_exon_variant,,ENST00000518996,;	A	ENST00000276704	Transcript	missense_variant	734/1341	682/1143	228/380	V/L	Gtg/Ttg	rs756347830	1		-1	C8orf76	HGNC	HGNC:25924	protein_coding	YES	CCDS6341.1	ENSP00000276704	Q96K31		UPI000006E851	NM_032847.2	tolerated(0.37)		4/6		hmmpanther:PTHR31919,hmmpanther:PTHR31919:SF1																	MODERATE	1	SNV	1			1										PASS		rs756347830	.												A	3	1	73	123231433	123231433	C	A	1	0	0	0	0	1	0	0	0	2164	478	17	2		2	C8orf76	8	123231433	Missense_Mutation	SNP	C	C3N-01074_TP	19300110	123231433	21907203	225	23662											
TG	0	.	GRCh38	chr8	132941351	132941351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgttctgcctttcccccagGccaaggatccaccacaacac	9	9	6	17	0	1	0	0	0	1	0	3	1	3	1	6	2	2	1	6	2	2	3			C3N-01074_TP	C3N-01074_NB	G	G																c.5042G>T	p.Gly1681Val	p.G1681V	ENST00000220616	26/48	672	452	220	495	495	0	strelka-varscan-mutect	TG,missense_variant,p.Gly1681Val,ENST00000220616,NM_003235.4;TG,intron_variant,,ENST00000519178,;TG,splice_region_variant,,ENST00000523756,;	T	ENST00000220616	Transcript	missense_variant,splice_region_variant	5082/8450	5042/8307	1681/2768	G/V	gGc/gTc	COSM5335573	1		1	TG	HGNC	HGNC:11764	protein_coding	YES	CCDS34944.1	ENSP00000220616	P01266		UPI000013C79F	NM_003235.4	deleterious(0.01)		26/48		PIRSF_domain:PIRSF001831											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	73	132941351	132941351	G	T	1	0	0	0	0	1	0	0	0	16246	1217	42	2		2	TG	8	132941351	Missense_Mutation	SNP	G	C3N-01074_TP	9709918	132941351	12197285	226	23663											
KHDRBS3	0	.	GRCh38	chr8	135542759	135542759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggaaaggttccatgagaGacaaggccaaggtaatatta	15	9	12	5	0	0	2	0	1	0	1	1	4	1	3	2	4	0	2	2	4	6	5	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.313G>A	p.Asp105Asn	p.D105N	ENST00000355849	3/9	244	187	57	185	185	0	strelka-varscan-mutect	KHDRBS3,missense_variant,p.Asp105Asn,ENST00000355849,NM_006558.2;KHDRBS3,missense_variant,p.Asp77Asn,ENST00000524199,;KHDRBS3,missense_variant,p.Asp78Asn,ENST00000517394,;KHDRBS3,missense_variant,p.Asp20Asn,ENST00000524282,;KHDRBS3,intron_variant,,ENST00000520981,;KHDRBS3,missense_variant,p.Asp30Asn,ENST00000517859,;KHDRBS3,non_coding_transcript_exon_variant,,ENST00000519600,;	A	ENST00000355849	Transcript	missense_variant	723/1977	313/1041	105/346	D/N	Gac/Aac		1		1	KHDRBS3	HGNC	HGNC:18117	protein_coding	YES	CCDS6374.1	ENSP00000348108	O75525		UPI0000073E6F	NM_006558.2	deleterious(0)		3/9		hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF29,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	135542759	135542759	G	A	1	0	0	0	0	1	0	0	0	8069	942	33	3		3	KHDRBS3	8	135542759	Missense_Mutation	SNP	G	C3N-01074_TP	2601408	135542759	9595877	227	23664											
CCDC166	0	.	GRCh38	chr8	143707199	143707199	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccggggcccctgcgcAgccagccgtgcacacgcgcc	4	3	14	20	5	0	0	0	0	0	0	1	0	1	0	7	3	4	2	7	3	0	0	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.815T>A	p.Leu272Gln	p.L272Q	ENST00000542437	2/2	48	37	11	61	61	0	strelka-varscan-mutect	CCDC166,missense_variant,p.Leu272Gln,ENST00000542437,NM_001162914.1;RP11-429J17.4,downstream_gene_variant,,ENST00000527579,;ZNF707,intron_variant,,ENST00000527561,;ZNF707,upstream_gene_variant,,ENST00000508587,;	T	ENST00000542437	Transcript	missense_variant	815/1320	815/1320	272/439	L/Q	cTg/cAg		1		-1	CCDC166	HGNC	HGNC:41910	protein_coding	YES	CCDS55280.1	ENSP00000437468	P0CW27		UPI00016623E2	NM_001162914.1	deleterious(0)		2/2		hmmpanther:PTHR14845,hmmpanther:PTHR14845:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	73	143707199	143707199	A	T	1	0	0	0	0	1	0	0	0	2482	188	7	4		4	CCDC166	8	143707199	Missense_Mutation	SNP	A	C3N-01074_TP	8164440	143707199	1431437	228	23665											
TTC39B	0	.	GRCh38	chr9	15172040	15172040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatctgaggaaggttttctCcagaggtgaagagctgcctg	10	10	13	8	0	2	4	0	2	2	2	3	5	2	5	2	3	2	2	2	3	3	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2028G>T	p.Trp676Cys	p.W676C	ENST00000512701	20/20	179	127	52	202	202	0	strelka-varscan-mutect	TTC39B,missense_variant,p.Trp676Cys,ENST00000512701,NM_152574.2,NM_001168339.1;TTC39B,missense_variant,p.Trp663Cys,ENST00000380850,NM_001168340.1;TTC39B,missense_variant,p.Trp607Cys,ENST00000297615,NM_001168341.1;TTC39B,missense_variant,p.Trp511Cys,ENST00000507285,;TTC39B,missense_variant,p.Trp511Cys,ENST00000507993,NM_001168342.1;TTC39B,non_coding_transcript_exon_variant,,ENST00000380853,;	A	ENST00000512701	Transcript	missense_variant	2065/10483	2028/2049	676/682	W/C	tgG/tgT		1		-1	TTC39B	HGNC	HGNC:23704	protein_coding	YES	CCDS6477.2	ENSP00000422496	Q5VTQ0		UPI0001BE810F	NM_152574.2,NM_001168339.1	tolerated(0.05)		20/20		hmmpanther:PTHR31859,hmmpanther:PTHR31859:SF4																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	73	15172040	15172040	C	A	1	0	0	0	0	1	0	0	0	17217	856	30	2		2	TTC39B	9	15172040	Missense_Mutation	SNP	C	C3N-01074_TP		15172040	123222677	229	23666											
SLC24A2	0	.	GRCh38	chr9	19516383	19516383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgaatgacggtgtacaGgagccagggcagtgggagcc	9	7	17	8	1	1	2	0	2	1	0	1	4	1	4	2	4	3	2	2	4	2	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1756C>A	p.Leu586Met	p.L586M	ENST00000341998	10/10	152	111	41	240	240	0	strelka-varscan-mutect	SLC24A2,missense_variant,p.Leu586Met,ENST00000341998,NM_020344.3;SLC24A2,missense_variant,p.Leu569Met,ENST00000286344,NM_001193288.2;	T	ENST00000341998	Transcript	missense_variant	1818/10749	1756/1986	586/661	L/M	Ctg/Atg		1		-1	SLC24A2	HGNC	HGNC:10976	protein_coding	YES	CCDS6493.1	ENSP00000344801	Q9UI40		UPI000004FA46	NM_020344.3	tolerated(0.07)		10/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF41,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	19516383	19516383	G	T	1	0	0	0	0	1	0	0	0	14732	991	35	2		2	SLC24A2	9	19516383	Missense_Mutation	SNP	G	C3N-01074_TP	4344343	19516383	118878334	230	23667											
SPATA31A6	0	.	GRCh38	chr9	42186953	42186953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aattatagccagcttttctgGggcctcccctctctgcacag	7	12	8	14	0	2	0	0	0	2	0	4	0	3	0	4	2	3	2	4	2	3	4	rs778011715		C3N-01074_TP	C3N-01074_NB	G	G																c.1251G>T	p.Trp417Cys	p.W417C	ENST00000332857	4/4	571	479	92	625	625	0	strelka-varscan-mutect	SPATA31A6,missense_variant,p.Trp417Cys,ENST00000332857,NM_001145196.1;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	T	ENST00000332857	Transcript	missense_variant	1280/4209	1251/4032	417/1343	W/C	tgG/tgT	rs778011715	1		1	SPATA31A6	HGNC	HGNC:32006	protein_coding	YES	CCDS75837.1	ENSP00000329825	Q5VVP1		UPI0000197F6E	NM_001145196.1	deleterious(0)		4/4		hmmpanther:PTHR21859:SF18,hmmpanther:PTHR21859,Pfam_domain:PF14650																	MODERATE	1	SNV	5			1										PASS		rs778011715	.												T	3	4	73	42186953	42186953	G	T	1	0	0	0	0	1	0	0	0	15345	1241	43	2		2	SPATA31A6	9	42186953	Missense_Mutation	SNP	G	C3N-01074_TP	22670570	42186953	96207764	231	23668											
FOXD4L5	0	.	GRCh38	chr9	65283971	65283971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagcggccactaatgaagGcgcagatgccgctgagcgtg	10	5	16	10	4	0	3	0	2	0	1	0	4	0	4	2	3	3	2	2	3	3	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.407C>A	p.Ala136Asp	p.A136D	ENST00000377420	1/1	203	187	16	240	240	0	varscan-mutect	FOXD4L5,missense_variant,p.Ala136Asp,ENST00000377420,NM_001126334.1;RP11-15J10.1,downstream_gene_variant,,ENST00000445695,;	T	ENST00000377420	Transcript	missense_variant	1239/3109	407/1251	136/416	A/D	gCc/gAc		1		-1	FOXD4L5	HGNC	HGNC:18522	protein_coding	YES	CCDS47977.1	ENSP00000366637	Q5VV16		UPI0000458A33	NM_001126334.1	tolerated(0.44)		1/1		Gene3D:1.10.10.10,Pfam_domain:PF00250,Prints_domain:PR00053,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF149,SMART_domains:SM00339,Superfamily_domains:SSF46785																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	73	65283971	65283971	G	T	1	0	0	0	0	1	0	0	0	5863	1203	42	2		2	FOXD4L5	9	65283971	Missense_Mutation	SNP	G	C3N-01074_TP	23097018	65283971	73110746	232	23669											
FOXD4L4	0	.	GRCh38	chr9	65737552	65737552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgctcagcggcatctgcgCcttcattagtggccgcttcc	5	10	10	16	4	3	0	2	0	1	0	4	0	4	0	3	2	2	3	3	2	1	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.407C>A	p.Ala136Asp	p.A136D	ENST00000377413	1/1	296	281	15	484	483	1	varscan-mutect	FOXD4L4,missense_variant,p.Ala136Asp,ENST00000377413,NM_199244.3;CBWD5,downstream_gene_variant,,ENST00000377392,NM_001286835.1;CBWD5,downstream_gene_variant,,ENST00000382405,;CBWD5,downstream_gene_variant,,ENST00000430059,;CBWD5,downstream_gene_variant,,ENST00000429800,;CBWD5,downstream_gene_variant,,ENST00000377395,NM_001024916.3;CBWD5,downstream_gene_variant,,ENST00000489273,;CBWD5,downstream_gene_variant,,ENST00000476797,;CBWD5,downstream_gene_variant,,ENST00000468066,;CBWD5,downstream_gene_variant,,ENST00000486191,;CBWD5,downstream_gene_variant,,ENST00000485088,;CBWD5,downstream_gene_variant,,ENST00000461932,;CBWD5,downstream_gene_variant,,ENST00000480229,;CBWD5,downstream_gene_variant,,ENST00000377389,;CBWD5,downstream_gene_variant,,ENST00000486221,;CBWD5,downstream_gene_variant,,ENST00000497250,;CBWD5,downstream_gene_variant,,ENST00000463075,;CBWD5,downstream_gene_variant,,ENST00000491485,;CBWD5,downstream_gene_variant,,ENST00000480819,;	A	ENST00000377413	Transcript	missense_variant	998/2230	407/1251	136/416	A/D	gCc/gAc		1		1	FOXD4L4	HGNC	HGNC:23762	protein_coding	YES	CCDS75845.1	ENSP00000366630	Q8WXT5		UPI0000246F14	NM_199244.3	tolerated(0.49)		1/1		Gene3D:1.10.10.10,Pfam_domain:PF00250,Prints_domain:PR00053,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF149,SMART_domains:SM00339,Superfamily_domains:SSF46785																	MODERATE		SNV				1										PASS		.	.												A	3	1	73	65737552	65737552	C	A	1	0	0	0	0	1	0	0	0	5862	739	26	2		2	FOXD4L4	9	65737552	Missense_Mutation	SNP	C	C3N-01074_TP	453581	65737552	72657165	233	23670											
TMOD1	0	.	GRCh38	chr9	97546231	97546231	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagaaggatcagaccaccaAggcgcccacgggccccttta	11	4	11	15	2	1	2	1	0	0	2	1	3	1	3	5	3	0	1	5	3	3	2	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.167A>G	p.Lys56Arg	p.K56R	ENST00000259365	3/10	210	170	40	198	198	0	strelka-varscan-mutect	TMOD1,missense_variant,p.Lys56Arg,ENST00000259365,NM_003275.3;TMOD1,missense_variant,p.Lys56Arg,ENST00000395211,NM_001166116.1;	G	ENST00000259365	Transcript	missense_variant	380/3343	167/1080	56/359	K/R	aAg/aGg		1		1	TMOD1	HGNC	HGNC:11871	protein_coding	YES	CCDS6726.1	ENSP00000259365	P28289		UPI000013707E	NM_003275.3	deleterious(0.04)		3/10		hmmpanther:PTHR10901:SF8,hmmpanther:PTHR10901,Pfam_domain:PF03250																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	73	97546231	97546231	A	G	1	0	0	0	0	1	0	0	0	16709	72	3	5		5	TMOD1	9	97546231	Missense_Mutation	SNP	A	C3N-01074_TP	31808679	97546231	40848486	234	23671											
GABBR2	0	.	GRCh38	chr9	98394210	98394210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcattgatgatctccagtGtgtcggccacagcgttgtac	7	13	11	10	2	2	2	1	2	1	0	4	2	2	2	2	1	2	2	2	1	1	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1343C>T	p.Thr448Ile	p.T448I	ENST00000259455	9/19	220	176	44	232	232	0	strelka-varscan-mutect	GABBR2,missense_variant,p.Thr448Ile,ENST00000259455,NM_005458.7;GABBR2,non_coding_transcript_exon_variant,,ENST00000637410,;	A	ENST00000259455	Transcript	missense_variant	1803/5788	1343/2826	448/941	T/I	aCa/aTa		1		-1	GABBR2	HGNC	HGNC:4507	protein_coding	YES	CCDS6736.1	ENSP00000259455	O75899	H9NIL8	UPI0000035832	NM_005458.7	tolerated(0.2)		9/19		Prints_domain:PR01178,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF40,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	98394210	98394210	G	A	1	0	0	0	0	1	0	0	0	6027	1377	48	3		3	GABBR2	9	98394210	Missense_Mutation	SNP	G	C3N-01074_TP	847979	98394210	40000507	235	23672											
COL27A1	0	.	GRCh38	chr9	114183058	114183059	+	Frame_Shift_Ins	INS	-	-	T																															tggaaatccaggtctccccgINSgccctcctggagccaaagtg																								novel		C3N-01074_TP	C3N-01074_NB	-	-																c.1999_2000insT	p.Gly667ValfsTer26	p.G667Vfs*26	ENST00000356083	5/61	201	172	29	208	208	0	sindel-varindel-pindel	COL27A1,frameshift_variant,p.Gly667ValfsTer26,ENST00000356083,NM_032888.3;COL27A1,frameshift_variant,p.Gly614ValfsTer8,ENST00000451716,;COL27A1,frameshift_variant,p.Gly317ValfsTer8,ENST00000494090,;	T	ENST00000356083	Transcript	frameshift_variant	2390-2391/7790	1999-2000/5583	667/1860	G/VX	ggc/gTgc		1		1	COL27A1	HGNC	HGNC:22986	protein_coding	YES	CCDS6802.1	ENSP00000348385	Q8IZC6		UPI0000062271	NM_032888.3			5/61		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF549,Low_complexity_(Seg):seg																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	73	114183058	114183058	-	T	1	0	1	1	0	0	0	0	0	3474	1116	39	0		0	COL27A1	9	114183058	Frame_Shift_Ins	INS	-	C3N-01074_TP	15788848	114183058	24211659	236	23673											
WHRN	0	.	GRCh38	chr9	114406490	114406490	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatgggggcagaaggcagcCcccagccactgtggcctctg	7	6	15	13	0	1	2	0	1	1	1	1	2	1	2	4	4	2	2	4	4	1	0	rs111373159		C3N-01074_TP	C3N-01074_NB	C	C																c.2101G>T	p.Gly701Cys	p.G701C	ENST00000362057	9/12	190	138	52	252	252	0	strelka-varscan-mutect	WHRN,missense_variant,p.Gly701Cys,ENST00000362057,NM_015404.3,NM_001173425.1;WHRN,missense_variant,p.Gly350Cys,ENST00000374059,;WHRN,missense_variant,p.Gly318Cys,ENST00000265134,NM_001083885.2;	A	ENST00000362057	Transcript	missense_variant	2270/3566	2101/2724	701/907	G/C	Ggc/Tgc	rs111373159	1		-1	WHRN	HGNC	HGNC:16361	protein_coding	YES	CCDS6806.1	ENSP00000354623		A0A0C4DFT9	UPI00003519A7	NM_015404.3,NM_001173425.1	tolerated(0.09)		9/12		hmmpanther:PTHR23116:SF37,hmmpanther:PTHR23116																	MODERATE	1	SNV	1			1										PASS		rs111373159	.												A	3	1	73	114406490	114406490	C	A	1	0	0	0	0	1	0	0	0	17919	623	22	2		2	WHRN	9	114406490	Missense_Mutation	SNP	C	C3N-01074_TP	223432	114406490	23988227	237	23674											
OR1L4	0	.	GRCh38	chr9	122724361	122724361	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctatggccatcgaccggctGgtggccatctgcaacccctt	6	10	10	15	2	2	0	0	0	2	0	3	1	2	0	5	4	2	2	5	4	2	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.372G>C	p.=	p.L124L	ENST00000259466	1/1	219	164	55	328	328	0	strelka-varscan-mutect	OR1L4,synonymous_variant,p.=,ENST00000259466,NM_001005235.1;	C	ENST00000259466	Transcript	synonymous_variant	372/936	372/936	124/311	L	ctG/ctC		1		1	OR1L4	HGNC	HGNC:8216	protein_coding	YES	CCDS35129.1	ENSP00000259466	Q8NGR5		UPI0000061E7A	NM_001005235.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF342,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												C	2	2	73	122724361	122724361	G	C	1	0	0	0	0	0	0	0	1	11043	1335	47	4		4	OR1L4	9	122724361	Silent	SNP	G	C3N-01074_TP	8317871	122724361	15670356	238	23675											
ODF2	0	.	GRCh38	chr9	128484043	128484043	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaacagtcgcctgtgcAtgcagattaaggtacctatt	11	11	10	9	1	0	2	0	1	0	2	1	3	0	2	2	1	4	3	2	1	4	4	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.1093A>T	p.Met365Leu	p.M365L	ENST00000434106	11/21	361	290	71	386	386	0	strelka-varscan-mutect	ODF2,missense_variant,p.Met360Leu,ENST00000351030,NM_001242352.1;ODF2,missense_variant,p.Met365Leu,ENST00000434106,NM_153433.1;ODF2,missense_variant,p.Met341Leu,ENST00000393527,NM_002540.4,NM_153435.1;ODF2,missense_variant,p.Met365Leu,ENST00000604420,NM_001242353.1;ODF2,missense_variant,p.Met360Leu,ENST00000372807,;ODF2,missense_variant,p.Met341Leu,ENST00000444119,;ODF2,missense_variant,p.Met346Leu,ENST00000372791,NM_153437.2;ODF2,missense_variant,p.Met409Leu,ENST00000372814,NM_153432.1,NM_153439.1;ODF2,missense_variant,p.Met346Leu,ENST00000546203,NM_153440.1;ODF2,missense_variant,p.Met365Leu,ENST00000393533,NM_153436.1;ODF2,missense_variant,p.Met284Leu,ENST00000448249,NM_001242354.1;ODF2,missense_variant,p.Met308Leu,ENST00000421776,;	T	ENST00000434106	Transcript	missense_variant	1456/3890	1093/2490	365/829	M/L	Atg/Ttg		1		1	ODF2	HGNC	HGNC:8114	protein_coding	YES	CCDS56588.1	ENSP00000403453	Q5BJF6		UPI0000211922	NM_153433.1	tolerated(0.08)		11/21		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23162,hmmpanther:PTHR23162:SF8																	MODERATE	1	SNV	1			1										PASS		rs910853145	.												T	3	4	73	128484043	128484043	A	T	1	0	0	0	0	1	0	0	0	10905	217	8	4		4	ODF2	9	128484043	Missense_Mutation	SNP	A	C3N-01074_TP	5759682	128484043	9910674	239	23676											
HMCN2	0	.	GRCh38	chr9	130404913	130404914	+	Frame_Shift_Ins	INS	-	-	A																															cccagacctgtccaccaccgINSaaggctcccacgccttcttg																								novel		C3N-01074_TP	C3N-01074_NB	-	-																c.12135dupA	p.Gly4046ArgfsTer15	p.G4046Rfs*15	ENST00000624552	81/98	56	51	5	97	97	0	varindel-pindel	HMCN2,frameshift_variant,p.Gly4046ArgfsTer15,ENST00000624552,NM_001291815.1;RN7SL665P,downstream_gene_variant,,ENST00000578793,;HMCN2,3_prime_UTR_variant,,ENST00000487727,;HMCN2,non_coding_transcript_exon_variant,,ENST00000480829,;	A	ENST00000624552	Transcript	frameshift_variant	12133-12134/15610	12133-12134/15180	4045/5059	E/EX	gaa/gAaa		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1			81/98		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	insertion	5	2		1										PASS		.	.												A	7	5	73	130404913	130404913	-	A	1	0	1	1	0	0	0	0	0	7112	1059	37	0		0	HMCN2	9	130404913	Frame_Shift_Ins	INS	-	C3N-01074_TP	1920870	130404913	7989804	240	23677											
ABL1	0	.	GRCh38	chr9	130872146	130872146	+	Frame_Shift_Del	DEL	G	G	-																															caggaggacaccatggaggtGgaagagttcttgaaagaagc																								novel		C3N-01074_TP	C3N-01074_NB	G	G																c.898delG	p.Glu300LysfsTer4	p.E300Kfs*4	ENST00000372348	5/11	136	101	35	119	119	0	sindel-varindel-pindel	ABL1,frameshift_variant,p.Glu281LysfsTer4,ENST00000318560,NM_005157.5;ABL1,frameshift_variant,p.Glu300LysfsTer4,ENST00000372348,NM_007313.2;	-	ENST00000372348	Transcript	frameshift_variant	1271/3824	897/3450	299/1149	V/X	gtG/gt		1		1	ABL1	HGNC	HGNC:76	protein_coding	YES	CCDS35165.1	ENSP00000361423	P00519		UPI000013E4DE	NM_007313.2			5/11		PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF88,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	73	130872146	130872146	G	-	1	0	1	0	1	0	0	0	0	102	1335	47	0		0	ABL1	9	130872146	Frame_Shift_Del	DEL	G	C3N-01074_TP	467233	130872146	7522571	241	23678											
LAMC3	0	.	GRCh38	chr9	131009364	131009364	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggcggctcgcccaggcCtcgcacacgtgcggcagccc	4	6	14	17	5	0	0	0	0	0	0	2	0	0	0	3	4	2	3	3	4	0	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.150C>T	p.=	p.A50A	ENST00000361069	1/28	214	161	53	231	231	0	strelka-varscan-mutect	LAMC3,synonymous_variant,p.=,ENST00000361069,NM_006059.3;LAMC3,non_coding_transcript_exon_variant,,ENST00000480883,;	T	ENST00000361069	Transcript	synonymous_variant	283/6133	150/4728	50/1575	A	gcC/gcT		1		1	LAMC3	HGNC	HGNC:6494	protein_coding	YES	CCDS6938.1	ENSP00000354360	Q9Y6N6		UPI000013D6D3	NM_006059.3			1/28		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,SMART_domains:SM00136																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	73	131009364	131009364	C	T	1	0	0	0	0	0	0	0	1	8520	668	24	3		3	LAMC3	9	131009364	Silent	SNP	C	C3N-01074_TP	137218	131009364	7385353	242	23679											
PRRC2B	0	.	GRCh38	chr9	131485018	131485018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagctctccaggcggcgctgGctcaggcatccagcctccat	6	7	12	16	2	2	0	1	0	1	0	5	1	4	0	4	4	2	4	4	4	0	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.5636G>T	p.Gly1879Val	p.G1879V	ENST00000357304	24/31	182	132	50	178	178	0	strelka-varscan-mutect	PRRC2B,missense_variant,p.Gly1879Val,ENST00000357304,NM_013318.3;PRRC2B,missense_variant,p.Gly1185Val,ENST00000405995,;PRRC2B,upstream_gene_variant,,ENST00000320547,;PRRC2B,downstream_gene_variant,,ENST00000451855,;PRRC2B,upstream_gene_variant,,ENST00000458550,;SNORD62A,upstream_gene_variant,,ENST00000428514,;	T	ENST00000357304	Transcript	missense_variant	5691/11042	5636/6690	1879/2229	G/V	gGc/gTc		1		1	PRRC2B	HGNC	HGNC:28121	protein_coding	YES	CCDS48044.1	ENSP00000349856	Q5JSZ5		UPI00002374A3	NM_013318.3	tolerated(0.13)		24/31		hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	73	131485018	131485018	G	T	1	0	0	0	0	1	0	0	0	12749	1203	42	2		2	PRRC2B	9	131485018	Missense_Mutation	SNP	G	C3N-01074_TP	475654	131485018	6909699	243	23680											
KCNT1	0	.	GRCh38	chr9	135765648	135765648	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attacgtggtcatcctgtgcCccacggagatggatgtccag	8	10	12	11	2	1	1	1	0	0	1	3	3	3	2	4	3	2	0	4	3	1	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1225C>G	p.Pro409Ala	p.P409A	ENST00000371757	13/31	81	61	20	89	89	0	strelka-varscan-mutect	KCNT1,missense_variant,p.Pro364Ala,ENST00000628528,NM_001272003.1;KCNT1,missense_variant,p.Pro376Ala,ENST00000263604,;KCNT1,missense_variant,p.Pro409Ala,ENST00000371757,NM_020822.2;KCNT1,missense_variant,p.Pro390Ala,ENST00000631073,;KCNT1,missense_variant,p.Pro409Ala,ENST00000487664,;KCNT1,missense_variant,p.Pro370Ala,ENST00000486577,;KCNT1,missense_variant,p.Pro390Ala,ENST00000490355,;KCNT1,missense_variant,p.Pro390Ala,ENST00000488444,;KCNT1,missense_variant,p.Pro390Ala,ENST00000491806,;KCNT1,missense_variant,p.Pro356Ala,ENST00000630792,;KCNT1,upstream_gene_variant,,ENST00000636003,;KCNT1,upstream_gene_variant,,ENST00000637082,;KCNT1,upstream_gene_variant,,ENST00000636995,;KCNT1,upstream_gene_variant,,ENST00000637668,;KCNT1,upstream_gene_variant,,ENST00000637798,;KCNT1,3_prime_UTR_variant,,ENST00000460750,;KCNT1,non_coding_transcript_exon_variant,,ENST00000490363,;	G	ENST00000371757	Transcript	missense_variant	1292/4717	1225/3708	409/1235	P/A	Ccc/Gcc		1		1	KCNT1	HGNC	HGNC:18865	protein_coding	YES	CCDS35175.2	ENSP00000360822	Q5JUK3		UPI000192C42B	NM_020822.2	deleterious(0.04)		13/31		Gene3D:3.40.50.720,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	73	135765648	135765648	C	G	1	0	0	0	0	1	0	0	0	8007	623	22	4		4	KCNT1	9	135765648	Missense_Mutation	SNP	C	C3N-01074_TP	4280630	135765648	2629069	244	23681											
SDCCAG3	0	.	GRCh38	chr9	136407347	136407347	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtatgtgctgcagggcGacgtgccggcagggaccctc	8	6	16	11	3	0	0	0	0	0	0	1	2	0	1	2	4	3	4	2	4	2	1	rs373282483		C3N-01074_TP	C3N-01074_NB	G	G																c.617C>A	p.Ser206Ter	p.S206*	ENST00000357365	5/10	199	149	50	169	169	0	strelka-varscan-mutect	SDCCAG3,stop_gained,p.Ser183Ter,ENST00000298537,NM_006643.3;SDCCAG3,stop_gained,p.Ser206Ter,ENST00000357365,NM_001039707.1;SDCCAG3,stop_gained,p.Ser133Ter,ENST00000371725,NM_001039708.1;SDCCAG3,stop_gained,p.Ser156Ter,ENST00000371723,;PMPCA,upstream_gene_variant,,ENST00000371717,NM_015160.2;PMPCA,upstream_gene_variant,,ENST00000399219,NM_001282946.1,NM_001282944.1;SDCCAG3,upstream_gene_variant,,ENST00000417512,;SDCCAG3,downstream_gene_variant,,ENST00000446833,;SDCCAG3,non_coding_transcript_exon_variant,,ENST00000468963,;SDCCAG3,upstream_gene_variant,,ENST00000461693,;PMPCA,upstream_gene_variant,,ENST00000610649,;SDCCAG3,upstream_gene_variant,,ENST00000486441,;SDCCAG3,upstream_gene_variant,,ENST00000466579,;SDCCAG3,upstream_gene_variant,,ENST00000481114,;PMPCA,upstream_gene_variant,,ENST00000612553,;PMPCA,upstream_gene_variant,,ENST00000622209,;PMPCA,upstream_gene_variant,,ENST00000371720,;PMPCA,upstream_gene_variant,,ENST00000620412,;PMPCA,upstream_gene_variant,,ENST00000620895,;PMPCA,upstream_gene_variant,,ENST00000614402,;PMPCA,upstream_gene_variant,,ENST00000619192,;	T	ENST00000357365	Transcript	stop_gained	747/2304	617/1308	206/435	S/*	tCg/tAg	rs373282483,COSM213471	1		-1	SDCCAG3	HGNC	HGNC:10667	protein_coding	YES	CCDS43904.1	ENSP00000349929	Q96C92		UPI00006C511A	NM_001039707.1			5/10		hmmpanther:PTHR31259											0,1						HIGH		SNV	5		0,1	1										PASS		rs373282483	.												T	4	4	73	136407347	136407347	G	T	1	0	0	0	0	0	1	0	0	14229	1059	37	1		1	SDCCAG3	9	136407347	Nonsense_Mutation	SNP	G	C3N-01074_TP	641699	136407347	1987370	245	23682											
NOTCH1	0	.	GRCh38	chr9	136504825	136504825	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgcgcagctcctcctcGcggccgtagtaggggaagat	6	9	14	12	4	0	1	0	0	0	1	3	2	2	2	3	3	3	5	3	3	3	3	rs772314400		C3N-01074_TP	C3N-01074_NB	G	G																c.4866C>T	p.=	p.R1622R	ENST00000277541	26/34	298	242	56	282	282	0	strelka-varscan-mutect	NOTCH1,synonymous_variant,p.=,ENST00000277541,NM_017617.3;NOTCH1,non_coding_transcript_exon_variant,,ENST00000494783,;	A	ENST00000277541	Transcript	synonymous_variant	4942/9371	4866/7668	1622/2555	R	cgC/cgT	rs772314400,COSM308620	1		-1	NOTCH1	HGNC	HGNC:7881	protein_coding	YES	CCDS43905.1	ENSP00000277541	P46531		UPI0000210F68	NM_017617.3			26/34		PIRSF_domain:PIRSF002279,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF69,SMART_domains:SM01338											0,1						LOW	1	SNV	1		0,1	1										PASS		rs772314400	.												A	2	1	73	136504825	136504825	G	A	1	0	0	0	0	0	0	0	1	10592	1074	38	1		1	NOTCH1	9	136504825	Silent	SNP	G	C3N-01074_TP	97478	136504825	1889892	246	23683											
NOTCH1	0	.	GRCh38	chr9	136516092	136516092	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggcacagatgcccagtgaAgcctggggccggggagggga	8	4	19	10	1	0	2	0	1	0	1	0	4	0	4	3	7	2	1	3	7	1	0	rs770672556		C3N-01074_TP	C3N-01074_NB	A	A																c.1558T>A	p.Phe520Ile	p.F520I	ENST00000277541	10/34	283	232	51	263	263	0	strelka-mutect	NOTCH1,missense_variant,p.Phe520Ile,ENST00000277541,NM_017617.3;MIR4673,downstream_gene_variant,,ENST00000584777,;	T	ENST00000277541	Transcript	missense_variant,splice_region_variant	1634/9371	1558/7668	520/2555	F/I	Ttc/Atc	rs770672556	1		-1	NOTCH1	HGNC	HGNC:7881	protein_coding	YES	CCDS43905.1	ENSP00000277541	P46531		UPI0000210F68	NM_017617.3	deleterious(0)		10/34		Gene3D:2.10.25.10,Pfam_domain:PF00008,PIRSF_domain:PIRSF002279,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF69,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		rs770672556	.												T	3	4	73	136516092	136516092	A	T	1	0	0	0	0	1	0	0	0	10592	86	3	4		4	NOTCH1	9	136516092	Missense_Mutation	SNP	A	C3N-01074_TP	11267	136516092	1878625	247	23684											
NELFB	0	.	GRCh38	chr9	137272616	137272616	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctggagcctacaggccagGtgggtgcccgggggggctgc	4	5	19	13	1	0	0	0	0	0	0	0	1	0	1	4	7	4	1	4	7	1	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1596+1G>T		p.X532_splice	ENST00000634710		120	94	26	129	129	0	strelka-varscan-mutect	NELFB,splice_donor_variant,,ENST00000343053,;NELFB,splice_donor_variant,,ENST00000634710,NM_015456.3;	T	ENST00000634710	Transcript	splice_donor_variant	-/2565	1596/1743	532/580				1		1	NELFB	HGNC	HGNC:24324	protein_coding	YES	CCDS7040.1	ENSP00000489248	Q8WX92		UPI0000070699	NM_015456.3				12/12																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	73	137272616	137272616	G	T	1	0	0	0	0	0	0	1	0	10361	1275	44	2		2	NELFB	9	137272616	Splice_Site	SNP	G	C3N-01074_TP	756524	137272616	1122101	248	23685											
CACNA1B	0	.	GRCh38	chr9	138114410	138114410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtggggaaggtttatgcaGctctgatgatattcgacttc	9	13	12	7	1	1	2	0	2	1	0	3	4	1	3	0	3	2	3	0	3	3	5	rs763934366		C3N-01074_TP	C3N-01074_NB	G	G																c.5569G>T	p.Ala1857Ser	p.A1857S	ENST00000371372	41/47	260	219	41	264	264	0	strelka-varscan-mutect	CACNA1B,missense_variant,p.Ala1857Ser,ENST00000371372,NM_000718.3;CACNA1B,missense_variant,p.Ala1855Ser,ENST00000371363,;CACNA1B,missense_variant,p.Ala1858Ser,ENST00000371355,;CACNA1B,missense_variant,p.Ala1856Ser,ENST00000371357,;CACNA1B,missense_variant,p.Ala1857Ser,ENST00000277549,;CACNA1B,missense_variant,p.Ala1857Ser,ENST00000277551,NM_001243812.1;	T	ENST00000371372	Transcript	missense_variant	5714/9790	5569/7020	1857/2339	A/S	Gct/Tct	rs763934366	1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3	tolerated(0.06)		41/47		Pfam_domain:PF08763,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161,SMART_domains:SM01062																	MODERATE	1	SNV	5			1										PASS		rs763934366	.												T	3	4	73	138114410	138114410	G	T	1	0	0	0	0	1	0	0	0	2227	971	34	2		2	CACNA1B	9	138114410	Missense_Mutation	SNP	G	C3N-01074_TP	841794	138114410	280307	249	23686											
CACNA1B	0	.	GRCh38	chr9	138117979	138117979	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtggcatcaaagagtctgtCtcctggggcactcaaaggac	11	8	12	10	0	4	1	2	0	2	1	5	2	4	2	1	4	0	2	1	4	2	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.5811C>T	p.=	p.V1937V	ENST00000371372	43/47	66	50	16	82	82	0	strelka-varscan-mutect	CACNA1B,synonymous_variant,p.=,ENST00000371372,NM_000718.3;CACNA1B,synonymous_variant,p.=,ENST00000371363,;CACNA1B,synonymous_variant,p.=,ENST00000371355,;CACNA1B,synonymous_variant,p.=,ENST00000371357,;CACNA1B,synonymous_variant,p.=,ENST00000277549,;CACNA1B,synonymous_variant,p.=,ENST00000277551,NM_001243812.1;	T	ENST00000371372	Transcript	synonymous_variant	5956/9790	5811/7020	1937/2339	V	gtC/gtT		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3			43/47		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	73	138117979	138117979	C	T	1	0	0	0	0	0	0	0	1	2227	900	32	3		3	CACNA1B	9	138117979	Silent	SNP	C	C3N-01074_TP	3569	138117979	276738	250	23687											
FAM171A1	0	.	GRCh38	chr10	15283877	15283877	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaagatgaggaacgccttaCcaggtaaccggattggcttc	12	8	12	9	2	0	2	0	1	0	1	1	5	0	4	3	4	3	2	3	4	4	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.325+1G>C		p.X109_splice	ENST00000378116		176	146	30	198	198	0	strelka-varscan-mutect	FAM171A1,splice_donor_variant,,ENST00000378116,NM_001010924.1;FAM171A1,splice_donor_variant,,ENST00000455654,;	G	ENST00000378116	Transcript	splice_donor_variant	-/3952	325/2673	109/890				1		-1	FAM171A1	HGNC	HGNC:23522	protein_coding	YES	CCDS31154.1	ENSP00000367356	Q5VUB5		UPI00001414CA	NM_001010924.1				2/7																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	73	15283877	15283877	C	G	1	0	0	0	0	0	0	1	0	5337	521	18	4		4	FAM171A1	10	15283877	Splice_Site	SNP	C	C3N-01074_TP		15283877	118513545	251	23688											
CACNB2	0	.	GRCh38	chr10	18514259	18514259	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagacatagatgctactggcTtagatgcagaagaaaatgat	16	10	10	5	0	0	6	0	1	0	5	0	6	0	6	0	1	3	3	0	1	7	4	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.694T>A	p.Leu232Ile	p.L232I	ENST00000324631	7/14	602	419	183	564	564	0	strelka-varscan-mutect	CACNB2,missense_variant,p.Leu177Ile,ENST00000396576,NM_000724.3;CACNB2,missense_variant,p.Leu204Ile,ENST00000282343,NM_201571.3,NM_001167945.1;CACNB2,missense_variant,p.Leu184Ile,ENST00000377315,NM_201570.2;CACNB2,missense_variant,p.Leu232Ile,ENST00000324631,NM_201596.2,NM_201593.2;CACNB2,missense_variant,p.Leu178Ile,ENST00000377329,NM_201590.2;CACNB2,intron_variant,,ENST00000617363,;CACNB2,intron_variant,,ENST00000612134,;CACNB2,intron_variant,,ENST00000615785,;CACNB2,intron_variant,,ENST00000377319,;CACNB2,intron_variant,,ENST00000352115,NM_201597.2;CACNB2,intron_variant,,ENST00000377331,NM_201572.3;CACNB2,intron_variant,,ENST00000377328,;CACNB2,intron_variant,,ENST00000612743,;RP11-499P20.2,intron_variant,,ENST00000425669,;	A	ENST00000324631	Transcript	missense_variant	754/3446	694/1983	232/660	L/I	Tta/Ata		1		1	CACNB2	HGNC	HGNC:1402	protein_coding	YES	CCDS7125.1	ENSP00000320025	Q08289		UPI00001AEA80	NM_201596.2,NM_201593.2	tolerated(0.11)		7/14		hmmpanther:PTHR11824:SF9,hmmpanther:PTHR11824,Prints_domain:PR01628																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	18514259	18514259	T	A	1	0	0	0	0	1	0	0	0	2241	1606	56	4		4	CACNB2	10	18514259	Missense_Mutation	SNP	T	C3N-01074_TP	3230382	18514259	115283163	252	23689											
PTCHD3	0	.	GRCh38	chr10	27399032	27399032	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taaaaatagcaaaataacagGgtcattcctgtatagatgca	18	10	7	6	0	1	1	1	0	0	1	2	1	2	1	1	1	3	3	1	1	9	6	rs754250965		C3N-01074_TP	C3N-01074_NB	G	G																c.1566C>A	p.=	p.T522T	ENST00000438700	4/4	193	117	76	213	212	1	strelka-varscan-mutect	PTCHD3,synonymous_variant,p.=,ENST00000438700,NM_001034842.3;PTCHD3,intron_variant,,ENST00000622555,;	T	ENST00000438700	Transcript	synonymous_variant	1684/2529	1566/2304	522/767	T	acC/acA	rs754250965	1		-1	PTCHD3	HGNC	HGNC:24776	protein_coding	YES	CCDS31173.1	ENSP00000417658	Q3KNS1		UPI000004E892	NM_001034842.3			4/4		Gene3D:2j8sB01,Pfam_domain:PF02460,PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60,Superfamily_domains:SSF82866,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs754250965	.												T	2	4	73	27399032	27399032	G	T	1	0	0	0	0	0	0	0	1	12886	1219	43	2		2	PTCHD3	10	27399032	Silent	SNP	G	C3N-01074_TP	8884773	27399032	106398390	253	23690											
ZEB1	0	.	GRCh38	chr10	31527072	31527072	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaatgtgaaaaaccacaaggGgatgaggaagaggaggagga	18	3	17	3	0	0	3	0	2	0	1	0	9	0	8	1	6	1	0	1	6	5	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.3186G>T	p.=	p.G1062G	ENST00000361642	9/9	424	267	157	425	425	0	strelka-varscan-mutect	ZEB1,synonymous_variant,p.=,ENST00000446923,NM_001323656.1,NM_001323664.1,NM_001323657.1,NM_001323650.1,NM_001128128.2,NM_001174094.1;ZEB1,synonymous_variant,p.=,ENST00000361642,NM_001174096.1;ZEB1,synonymous_variant,p.=,ENST00000320985,NM_030751.5;ZEB1,synonymous_variant,p.=,ENST00000560721,NM_001174093.1;ZEB1,synonymous_variant,p.=,ENST00000542815,NM_001174095.1;ZEB1,downstream_gene_variant,,ENST00000559858,;ZEB1,3_prime_UTR_variant,,ENST00000437844,NM_001323663.1,NM_001323661.1,NM_001323644.1,NM_001323649.1,NM_001323659.1,NM_001323652.1,NM_001323673.1,NM_001323662.1,NM_001323676.1,NM_001323653.1,NM_001323655.1,NM_001323645.1,NM_001323647.1,NM_001323660.1,NM_001323671.1,NM_001323638.1,NM_001323665.1,NM_001323643.1,NM_001323677.1,NM_001323641.1,NM_001323642.1,NM_001323658.1,NM_001323651.1,NM_001323672.1,NM_001323654.1;ZEB1,non_coding_transcript_exon_variant,,ENST00000488625,;ZEB1,non_coding_transcript_exon_variant,,ENST00000542879,;ZEB1,downstream_gene_variant,,ENST00000558655,;	T	ENST00000361642	Transcript	synonymous_variant	3249/5990	3186/3378	1062/1125	G	ggG/ggT		1		1	ZEB1	HGNC	HGNC:11642	protein_coding	YES	CCDS53505.1	ENSP00000354487	P37275		UPI000068F51D	NM_001174096.1			9/9		hmmpanther:PTHR24391,hmmpanther:PTHR24391:SF17,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	73	31527072	31527072	G	T	1	0	0	0	0	0	0	0	1	18199	1219	43	2		2	ZEB1	10	31527072	Silent	SNP	G	C3N-01074_TP	4128040	31527072	102270350	254	23691											
ZNF25	0	.	GRCh38	chr10	37971707	37971707	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggctaagtaaatgactcaCctggaacttgttcattttct	11	14	8	8	0	3	1	2	1	1	0	3	2	3	2	1	2	1	3	1	2	4	6	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.15+1G>T		p.X5_splice	ENST00000302609		294	237	57	210	210	0	strelka-varscan-mutect	ZNF25,splice_donor_variant,,ENST00000302609,NM_145011.2;ZNF25,splice_donor_variant,,ENST00000374633,;ZNF25,splice_donor_variant,,ENST00000467975,;	A	ENST00000302609	Transcript	splice_donor_variant	-/4139	15/1371	5/456				1		-1	ZNF25	HGNC	HGNC:13043	protein_coding	YES	CCDS7195.1	ENSP00000302222	P17030		UPI0000071FFD	NM_145011.2				2/5																		HIGH	1	SNV	1			1										PASS		rs1286519553	.												A	5	1	73	37971707	37971707	C	A	1	0	0	0	0	0	0	1	0	18370	521	18	2		2	ZNF25	10	37971707	Splice_Site	SNP	C	C3N-01074_TP	6444635	37971707	95825715	255	23692											
ZNF487	0	.	GRCh38	chr10	43481475	43481475	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaagagacaggaaaatcaAgaccagcatttgcagaaagt	19	5	11	6	0	1	4	1	0	0	4	1	7	1	5	1	1	2	2	1	1	5	1	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.180A>T	p.Gln60His	p.Q60H	ENST00000437590	4/4	302	241	61	266	266	0	strelka-varscan-mutect	ZNF487,missense_variant,p.Gln60His,ENST00000437590,;ZNF487,missense_variant,p.Gln122His,ENST00000315429,;ZNF487,missense_variant,p.Gln28His,ENST00000456416,;	T	ENST00000437590	Transcript	missense_variant	407/2111	180/627	60/208	Q/H	caA/caT		1		1	ZNF487	HGNC	HGNC:23488	protein_coding	YES		ENSP00000392335	B1APH4		UPI00019151EB		deleterious(0.04)		4/4		hmmpanther:PTHR24381:SF30,hmmpanther:PTHR24381																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	73	43481475	43481475	A	T	1	0	0	0	0	1	0	0	0	18512	69	3	4		4	ZNF487	10	43481475	Missense_Mutation	SNP	A	C3N-01074_TP	5509768	43481475	90315947	256	23693											
WDFY4	0	.	GRCh38	chr10	48811603	48811603	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcctgggttccgtgtCttgaatgactttctggccca	4	15	10	12	1	2	2	0	2	2	0	4	2	4	2	3	2	1	2	3	2	1	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.5109C>A	p.=	p.V1703V	ENST00000325239	29/61	270	222	48	222	221	1	strelka-varscan-mutect	WDFY4,synonymous_variant,p.=,ENST00000325239,NM_020945.1;WDFY4,synonymous_variant,p.=,ENST00000374161,;	A	ENST00000325239	Transcript	synonymous_variant	5109/9555	5109/9555	1703/3184	V	gtC/gtA		1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1			29/61		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	73	48811603	48811603	C	A	1	0	0	0	0	0	0	0	1	17831	900	32	2		2	WDFY4	10	48811603	Silent	SNP	C	C3N-01074_TP	5330128	48811603	84985819	257	23694											
OGDHL	0	.	GRCh38	chr10	49747063	49747063	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctccacggtagaactgcTctgcctttgtcttcccctgc	5	13	7	16	1	3	1	0	0	3	1	5	1	4	1	4	1	4	2	4	1	2	3	rs373158682		C3N-01074_TP	C3N-01074_NB	T	T																c.1133A>T	p.Glu378Val	p.E378V	ENST00000374103	9/23	157	116	41	138	138	0	strelka-varscan-mutect	OGDHL,missense_variant,p.Glu378Val,ENST00000374103,NM_018245.2;OGDHL,missense_variant,p.Glu321Val,ENST00000419399,NM_001143996.1;OGDHL,missense_variant,p.Glu169Val,ENST00000432695,NM_001143997.1;OGDHL,upstream_gene_variant,,ENST00000496884,;	A	ENST00000374103	Transcript	missense_variant	1219/3704	1133/3033	378/1010	E/V	gAg/gTg	rs373158682	1		-1	OGDHL	HGNC	HGNC:25590	protein_coding	YES	CCDS7234.1	ENSP00000363216	Q9ULD0		UPI000013D6A4	NM_018245.2	tolerated(0.16)		9/23		Gene3D:3.40.50.970,Pfam_domain:PF00676,PIRSF_domain:PIRSF000157,hmmpanther:PTHR23152,hmmpanther:PTHR23152:SF5,Superfamily_domains:SSF52518,TIGRFAM_domain:TIGR00239																	MODERATE	1	SNV	1			1										PASS		rs373158682	.												A	3	1	73	49747063	49747063	T	A	1	0	0	0	0	1	0	0	0	10914	1551	54	4		4	OGDHL	10	49747063	Missense_Mutation	SNP	T	C3N-01074_TP	935460	49747063	84050359	258	23695											
PALD1	0	.	GRCh38	chr10	70538959	70538959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggatgtggccaacttccGgcgggtgccccgcatgccca	6	7	14	14	3	0	0	0	0	0	0	1	2	1	1	5	4	3	1	5	4	1	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1520G>T	p.Arg507Leu	p.R507L	ENST00000263563	13/20	426	319	107	314	314	0	strelka-varscan-mutect	PALD1,missense_variant,p.Arg507Leu,ENST00000263563,NM_014431.2;	T	ENST00000263563	Transcript	missense_variant	1788/4555	1520/2571	507/856	R/L	cGg/cTg		1		1	PALD1	HGNC	HGNC:23530	protein_coding	YES	CCDS31215.1	ENSP00000263563	Q9ULE6	A0A024QZM5	UPI00001C1EDC	NM_014431.2	deleterious(0)		13/20		hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF54,Gene3D:3.90.190.10,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	70538959	70538959	G	T	1	0	0	0	0	1	0	0	0	11486	1116	39	1		1	PALD1	10	70538959	Missense_Mutation	SNP	G	C3N-01074_TP	20791896	70538959	63258463	259	23696											
PLAU	0	.	GRCh38	chr10	73913079	73913079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgctcttcagctgggcctgGggaaacataattactgcagg	10	10	12	9	0	2	0	1	0	1	0	2	1	2	1	1	4	5	3	1	4	3	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.349G>T	p.Gly117Trp	p.G117W	ENST00000372764	5/11	164	111	53	118	118	0	strelka-varscan-mutect	PLAU,missense_variant,p.Gly100Trp,ENST00000446342,NM_001145031.1;PLAU,missense_variant,p.Gly117Trp,ENST00000372764,NM_001319191.1,NM_002658.3;C10orf55,splice_region_variant,,ENST00000412307,NM_001001791.2;PLAU,downstream_gene_variant,,ENST00000481390,;C10orf55,splice_region_variant,,ENST00000409178,;PLAU,non_coding_transcript_exon_variant,,ENST00000494287,;PLAU,downstream_gene_variant,,ENST00000496926,;	T	ENST00000372764	Transcript	missense_variant	442/2321	349/1296	117/431	G/W	Ggg/Tgg		1		1	PLAU	HGNC	HGNC:9052	protein_coding	YES	CCDS7339.1	ENSP00000361850	P00749		UPI000013CB02	NM_001319191.1,NM_002658.3	deleterious(0)		5/11		PROSITE_profiles:PS50070,hmmpanther:PTHR24264:SF18,hmmpanther:PTHR24264,Pfam_domain:PF00051,Gene3D:2.40.20.10,SMART_domains:SM00130,Superfamily_domains:SSF57440,Prints_domain:PR00018																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	73913079	73913079	G	T	1	0	0	0	0	1	0	0	0	12116	1246	43	2		2	PLAU	10	73913079	Missense_Mutation	SNP	G	C3N-01074_TP	3374120	73913079	59884343	260	23697											
LRIT1	0	.	GRCh38	chr10	84234192	84234192	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacctgatgctggccactCctggatggagctctgggccc	5	8	15	13	0	1	1	0	1	1	0	2	4	2	4	4	5	2	2	4	5	0	0			C3N-01074_TP	C3N-01074_NB	C	C																c.776G>T	p.Gly259Val	p.G259V	ENST00000372105	3/4	184	138	46	112	112	0	strelka-varscan-mutect	LRIT1,missense_variant,p.Gly259Val,ENST00000372105,NM_015613.2;	A	ENST00000372105	Transcript	missense_variant	798/2228	776/1872	259/623	G/V	gGa/gTa	COSM685177	1		-1	LRIT1	HGNC	HGNC:23404	protein_coding	YES	CCDS7373.1	ENSP00000361177	Q9P2V4		UPI000006F66C	NM_015613.2	tolerated(0.06)		3/4		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF9,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	73	84234192	84234192	C	A	1	0	0	0	0	1	0	0	0	8842	855	30	2		2	LRIT1	10	84234192	Missense_Mutation	SNP	C	C3N-01074_TP	10321113	84234192	49563230	261	23698											
LIPF	0	.	GRCh38	chr10	88667287	88667287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggttattcttttctttcagGcaggtccaaaatgtggctgc	7	15	11	8	0	3	0	1	0	2	0	4	0	4	0	1	4	1	3	1	4	3	5	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.20G>T	p.Ser7Ile	p.S7I	ENST00000394375	3/11	186	136	50	158	157	1	strelka-varscan-mutect	LIPF,missense_variant,p.Ser7Ile,ENST00000394375,NM_001198829.1;LIPF,missense_variant,p.Ser7Ile,ENST00000355843,NM_001198830.1;LIPF,splice_region_variant,,ENST00000238983,NM_004190.3;LIPF,splice_region_variant,,ENST00000608620,NM_001198828.1;LIPF,splice_region_variant,,ENST00000609378,;	T	ENST00000394375	Transcript	missense_variant,splice_region_variant	133/1470	20/1227	7/408	S/I	aGc/aTc		1		1	LIPF	HGNC	HGNC:6622	protein_coding	YES	CCDS55718.1	ENSP00000377900	P07098		UPI0001E92A2A	NM_001198829.1	tolerated(0.2)		3/11		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF15,PIRSF_domain:PIRSF000862																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	73	88667287	88667287	G	T	1	0	0	0	0	1	0	0	0	8743	1217	42	2		2	LIPF	10	88667287	Missense_Mutation	SNP	G	C3N-01074_TP	4433095	88667287	45130135	262	23699											
PPP1R3C	0	.	GRCh38	chr10	91630071	91630071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcacagtcctggggtgcCatctgtgtctgcaccccatc	7	10	10	14	0	2	0	0	0	2	0	4	0	3	0	4	2	3	2	4	2	1	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.810G>T	p.Met270Ile	p.M270I	ENST00000238994	2/2	368	255	113	380	380	0	strelka-varscan-mutect	PPP1R3C,missense_variant,p.Met270Ile,ENST00000238994,NM_005398.5;	A	ENST00000238994	Transcript	missense_variant	895/2524	810/954	270/317	M/I	atG/atT		1		-1	PPP1R3C	HGNC	HGNC:9293	protein_coding	YES	CCDS7416.1	ENSP00000238994	Q9UQK1		UPI000006EFF1	NM_005398.5	tolerated(0.2)		2/2		PIRSF_domain:PIRSF038207,PIRSF_domain:PIRSF500813,hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	91630071	91630071	C	A	1	0	0	0	0	1	0	0	0	12494	594	21	2		2	PPP1R3C	10	91630071	Missense_Mutation	SNP	C	C3N-01074_TP	2962784	91630071	42167351	263	23700											
ACSM6	0	.	GRCh38	chr10	95207366	95207366	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgaaaaccaagctcctgGtgtcagataagagctatgat	13	10	9	9	0	1	4	1	2	0	2	2	4	2	4	3	1	3	2	3	1	5	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.562G>C	p.Val188Leu	p.V188L	ENST00000341686	4/11	629	449	180	473	472	1	strelka-varscan-mutect	ACSM6,missense_variant,p.Val188Leu,ENST00000341686,NM_207321.2;ACSM6,missense_variant,p.Val188Leu,ENST00000394005,;ACSM6,3_prime_UTR_variant,,ENST00000327739,;ACSM6,3_prime_UTR_variant,,ENST00000404473,;	C	ENST00000341686	Transcript	missense_variant	687/1712	562/1443	188/480	V/L	Gtg/Ctg		1		1	ACSM6	HGNC	HGNC:31665	protein_coding	YES	CCDS7440.2	ENSP00000340296	Q6P461		UPI00017BCE82	NM_207321.2	deleterious(0.03)		4/11		Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF143,Superfamily_domains:SSF56801																	MODERATE	1	SNV	5			1										PASS		rs1270718616	.												C	3	2	73	95207366	95207366	G	C	1	0	0	0	0	1	0	0	0	230	1261	44	4		4	ACSM6	10	95207366	Missense_Mutation	SNP	G	C3N-01074_TP	3577295	95207366	38590056	264	23701											
SLIT1	0	.	GRCh38	chr10	97056409	97056409	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagagcagtgagaggttctGcaggtcctggaaggcatcgg	9	7	18	7	1	1	2	0	1	1	2	3	5	2	3	1	6	2	4	1	6	1	1			C3N-01074_TP	C3N-01074_NB	G	G																c.1213C>T	p.Gln405Ter	p.Q405*	ENST00000266058	13/37	249	181	68	201	201	0	strelka-varscan-mutect	SLIT1,stop_gained,p.Gln405Ter,ENST00000266058,NM_003061.2;SLIT1,stop_gained,p.Gln405Ter,ENST00000371070,;SLIT1,stop_gained,p.Gln398Ter,ENST00000314867,;SLIT1,downstream_gene_variant,,ENST00000371041,;	A	ENST00000266058	Transcript	stop_gained	1459/7925	1213/4605	405/1534	Q/*	Cag/Tag	COSM4645014,COSM4645015	1		-1	SLIT1	HGNC	HGNC:11085	protein_coding	YES	CCDS7453.1	ENSP00000266058	O75093		UPI00001F9491	NM_003061.2			13/37		Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF39,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												A	4	1	73	97056409	97056409	G	A	1	0	0	0	0	0	1	0	0	15030	1328	46	3		3	SLIT1	10	97056409	Nonsense_Mutation	SNP	G	C3N-01074_TP	1849043	97056409	36741013	265	23702											
SLIT1	0	.	GRCh38	chr10	97057231	97057231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagctgtagggtgtataggCctccaaacacaccacggggg	10	6	15	10	1	0	0	0	0	0	0	1	1	1	1	3	5	2	3	3	5	4	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1136G>A	p.Gly379Asp	p.G379D	ENST00000266058	12/37	218	175	43	215	215	0	strelka-varscan-mutect	SLIT1,missense_variant,p.Gly379Asp,ENST00000266058,NM_003061.2;SLIT1,missense_variant,p.Gly379Asp,ENST00000371070,;SLIT1,missense_variant,p.Gly372Asp,ENST00000314867,;SLIT1,downstream_gene_variant,,ENST00000371041,;	T	ENST00000266058	Transcript	missense_variant	1382/7925	1136/4605	379/1534	G/D	gGc/gAc		1		-1	SLIT1	HGNC	HGNC:11085	protein_coding	YES	CCDS7453.1	ENSP00000266058	O75093		UPI00001F9491	NM_003061.2	deleterious(0.05)		12/37		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF39,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	97057231	97057231	C	T	1	0	0	0	0	1	0	0	0	15030	739	26	3		3	SLIT1	10	97057231	Missense_Mutation	SNP	C	C3N-01074_TP	822	97057231	36740191	266	23703											
INA	0	.	GRCh38	chr10	103277662	103277662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgcgagctgcgcgacctgCgcgcgcagctggaggaggcc	6	3	18	14	7	0	0	0	0	0	0	0	4	0	2	2	3	5	3	2	3	0	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.451C>T	p.Arg151Cys	p.R151C	ENST00000369849	1/3	64	43	21	73	73	0	strelka-varscan-mutect	INA,missense_variant,p.Arg151Cys,ENST00000369849,NM_032727.3;	T	ENST00000369849	Transcript	missense_variant	500/3231	451/1500	151/499	R/C	Cgc/Tgc		1		1	INA	HGNC	HGNC:6057	protein_coding	YES	CCDS7545.1	ENSP00000358865	Q16352		UPI000012573C	NM_032727.3	deleterious(0)		1/3		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF132,hmmpanther:PTHR23239,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF90257																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	103277662	103277662	C	T	1	0	0	0	0	1	0	0	0	7632	768	27	1		1	INA	10	103277662	Missense_Mutation	SNP	C	C3N-01074_TP	6220431	103277662	30519760	267	23704											
PNLIPRP1	0	.	GRCh38	chr10	116598163	116598163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggatctagatggcatctggGcgggtaaagtcatggtgggg	8	10	18	5	1	3	1	1	0	2	1	3	2	3	2	0	7	0	2	0	7	3	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.811G>T	p.Ala271Ser	p.A271S	ENST00000528052	8/13	125	93	32	144	144	0	strelka-varscan-mutect	PNLIPRP1,missense_variant,p.Ala271Ser,ENST00000528052,NM_001303135.1;PNLIPRP1,missense_variant,p.Ala271Ser,ENST00000358834,NM_006229.3;PNLIPRP1,missense_variant,p.Ala271Ser,ENST00000534537,;PNLIPRP1,downstream_gene_variant,,ENST00000531984,;PNLIPRP1,downstream_gene_variant,,ENST00000530319,;PNLIPRP1,downstream_gene_variant,,ENST00000527980,;PNLIPRP1,downstream_gene_variant,,ENST00000471549,;PNLIPRP1,downstream_gene_variant,,ENST00000480870,;PNLIPRP1,downstream_gene_variant,,ENST00000525157,;PNLIPRP1,downstream_gene_variant,,ENST00000510125,;PNLIPRP1,missense_variant,p.Ala161Ser,ENST00000482833,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000526223,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000531825,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525820,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000534513,;PNLIPRP1,downstream_gene_variant,,ENST00000482159,;PNLIPRP1,downstream_gene_variant,,ENST00000497792,;PNLIPRP1,downstream_gene_variant,,ENST00000484402,;PNLIPRP1,downstream_gene_variant,,ENST00000529584,;	T	ENST00000528052	Transcript	missense_variant	882/1533	811/1404	271/467	A/S	Gcg/Tcg		1		1	PNLIPRP1	HGNC	HGNC:9156	protein_coding	YES	CCDS7595.1	ENSP00000433933	P54315		UPI000012E6AA	NM_001303135.1	tolerated(0.24)		8/13		Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF108,Superfamily_domains:SSF53474																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	73	116598163	116598163	G	T	1	0	0	0	0	1	0	0	0	12258	1217	42	2		2	PNLIPRP1	10	116598163	Missense_Mutation	SNP	G	C3N-01074_TP	13320501	116598163	17199259	268	23705											
HSPA12A	0	.	GRCh38	chr10	116674890	116674890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataagggtctggatctccCtccgggcgggcaccgcagtg	6	7	15	13	3	2	0	0	0	2	0	4	1	3	1	3	4	0	3	3	4	1	1			C3N-01074_TP	C3N-01074_NB	C	C																c.1919G>T	p.Arg640Met	p.R640M	ENST00000369209	12/12	439	306	133	359	358	1	strelka-varscan-mutect	HSPA12A,missense_variant,p.Arg657Met,ENST00000635765,;HSPA12A,missense_variant,p.Arg640Met,ENST00000369209,NM_025015.2;C10orf82,upstream_gene_variant,,ENST00000369210,NM_144661.2;C10orf82,upstream_gene_variant,,ENST00000588184,;RP11-498B4.5,downstream_gene_variant,,ENST00000433600,;C10orf82,upstream_gene_variant,,ENST00000588224,;C10orf82,upstream_gene_variant,,ENST00000467153,;	A	ENST00000369209	Transcript	missense_variant	2024/5722	1919/2028	640/675	R/M	aGg/aTg	COSM5588008	1		-1	HSPA12A	HGNC	HGNC:19022	protein_coding	YES	CCDS41569.1	ENSP00000358211	O43301		UPI00001B3DE3	NM_025015.2	deleterious(0)		12/12		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF46											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	73	116674890	116674890	C	A	1	0	0	0	0	1	0	0	0	7300	681	24	2		2	HSPA12A	10	116674890	Missense_Mutation	SNP	C	C3N-01074_TP	76727	116674890	17122532	269	23706											
TACC2	0	.	GRCh38	chr10	122086324	122086325	+	Frame_Shift_Del	DEL	CA	CA	-																															ctgtcctgtaggggagccccCacttgccttggaaaatgctg																								novel		C3N-01074_TP	C3N-01074_NB	CA	CA																c.3825_3826delAC	p.Leu1276CysfsTer37	p.L1276Cfs*37	ENST00000369005	4/23	224	187	37	238	238	0	sindel-varindel-pindel	TACC2,frameshift_variant,p.Leu1276CysfsTer37,ENST00000369005,NM_206862.3;TACC2,frameshift_variant,p.Leu1276CysfsTer37,ENST00000334433,;TACC2,frameshift_variant,p.Leu1276CysfsTer37,ENST00000515273,NM_001291877.1;TACC2,frameshift_variant,p.Leu1276CysfsTer37,ENST00000453444,;TACC2,frameshift_variant,p.Leu1276CysfsTer37,ENST00000515603,NM_001291876.1;TACC2,intron_variant,,ENST00000513429,NM_206861.2;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;	-	ENST00000369005	Transcript	frameshift_variant	4164-4165/9673	3824-3825/8847	1275/2948	P/X	cCA/c		1		1	TACC2	HGNC	HGNC:11523	protein_coding	YES	CCDS7626.1	ENSP00000358001	O95359		UPI0000246F6B	NM_206862.3			4/23		hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	73	122086324	122086324	CA	-	1	0	1	0	1	0	0	0	0	15898	594	21	0		0	TACC2	10	122086324	Frame_Shift_Del	DEL	CA	C3N-01074_TP	5411434	122086324	11711098	270	23707											
ADAM12	0	.	GRCh38	chr10	126049408	126049408	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attggtaccaatgactggccGgctggcacctccttgacact	8	10	10	13	1	0	2	0	2	0	0	1	2	1	2	4	4	1	3	4	4	2	3	rs780909978		C3N-01074_TP	C3N-01074_NB	G	G																c.1771C>A	p.=	p.R591R	ENST00000368679	16/23	395	288	107	290	290	0	strelka-varscan-mutect	ADAM12,synonymous_variant,p.=,ENST00000368679,NM_003474.5,NM_001288973.1;ADAM12,synonymous_variant,p.=,ENST00000368676,NM_021641.4,NM_001288974.1,NM_001288975.1;ADAM12,downstream_gene_variant,,ENST00000467145,;	T	ENST00000368679	Transcript	synonymous_variant	2081/7938	1771/2730	591/909	R	Cgg/Agg	rs780909978	1		-1	ADAM12	HGNC	HGNC:190	protein_coding	YES	CCDS7653.1	ENSP00000357668	O43184		UPI000036672C	NM_003474.5,NM_001288973.1			16/23		Pfam_domain:PF08516,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF112,SMART_domains:SM00608																	LOW	1	SNV	1			1										PASS		rs780909978	.												T	2	4	73	126049408	126049408	G	T	1	0	0	0	0	0	0	0	1	280	1115	39	1		1	ADAM12	10	126049408	Silent	SNP	G	C3N-01074_TP	3963084	126049408	7748014	271	23708											
CFAP46	0	.	GRCh38	chr10	132808587	132808587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcagagctcgaggtccagGcggctgccttgcgggaagtc	7	6	17	11	3	0	1	0	0	0	1	3	3	1	2	2	5	3	3	2	5	1	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.7982C>A	p.Ala2661Asp	p.A2661D	ENST00000368586	58/58	302	202	100	182	182	0	strelka-varscan-mutect	CFAP46,missense_variant,p.Ala2661Asp,ENST00000368586,NM_001200049.2;	T	ENST00000368586	Transcript	missense_variant	8083/8278	7982/8148	2661/2715	A/D	gCc/gAc		1		-1	CFAP46	HGNC	HGNC:25247	protein_coding	YES	CCDS58101.1	ENSP00000357575	Q8IYW2		UPI0001B79116	NM_001200049.2	tolerated_low_confidence(0.06)		58/58																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	73	132808587	132808587	G	T	1	0	0	0	0	1	0	0	0	3021	1203	42	2		2	CFAP46	10	132808587	Missense_Mutation	SNP	G	C3N-01074_TP	6759179	132808587	988835	272	23709											
MUC5AC	0	.	GRCh38	chr11	1186746	1186746	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctctgtccctacaagcagCacaacctccactgctacaac	12	7	4	18	0	1	0	0	0	1	0	3	0	3	0	4	0	7	3	4	0	5	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.8601C>T	p.=	p.S2867S	ENST00000621226	31/49	287	245	42	277	277	0	strelka-varscan-mutect	MUC5AC,synonymous_variant,p.=,ENST00000621226,NM_001304359.1;	T	ENST00000621226	Transcript	synonymous_variant	8648/17448	8601/16965	2867/5654	S	agC/agT		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1			31/49		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	73	1186746	1186746	C	T	1	0	0	0	0	0	0	0	1	9978	709	25	3		3	MUC5AC	11	1186746	Silent	SNP	C	C3N-01074_TP		1186746	133899876	273	23710											
BRSK2	0	.	GRCh38	chr11	1445385	1445385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggacatcgaccccgacGtgctggacagcatgcactca	10	6	12	13	3	1	0	1	0	0	0	2	5	1	3	2	3	3	3	2	3	0	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1042G>A	p.Val348Met	p.V348M	ENST00000382179	10/20	320	225	95	259	259	0	strelka-varscan-mutect	BRSK2,missense_variant,p.Val302Met,ENST00000308219,NM_003957.3;BRSK2,missense_variant,p.Val302Met,ENST00000528841,NM_001256627.1;BRSK2,missense_variant,p.Val348Met,ENST00000382179,NM_001256630.1;BRSK2,missense_variant,p.Val242Met,ENST00000528710,NM_001282218.1;BRSK2,missense_variant,p.Val302Met,ENST00000531197,NM_001256629.1;BRSK2,missense_variant,p.Val302Met,ENST00000526678,;BRSK2,downstream_gene_variant,,ENST00000528596,;BRSK2,downstream_gene_variant,,ENST00000524702,;BRSK2,missense_variant,p.Val302Met,ENST00000529433,;BRSK2,3_prime_UTR_variant,,ENST00000529951,;BRSK2,non_coding_transcript_exon_variant,,ENST00000531078,;	A	ENST00000382179	Transcript	missense_variant	1295/3576	1042/2301	348/766	V/M	Gtg/Atg		1		1	BRSK2	HGNC	HGNC:11405	protein_coding	YES	CCDS58108.1	ENSP00000371614	Q8IWQ3		UPI000035E827	NM_001256630.1	deleterious(0)		10/20		hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF84																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	73	1445385	1445385	G	A	1	0	0	0	0	1	0	0	0	1698	1145	40	1		1	BRSK2	11	1445385	Missense_Mutation	SNP	G	C3N-01074_TP	258639	1445385	133641237	274	23711											
SLC22A18	0	.	GRCh38	chr11	2922441	2922441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcctgccgtcccaggcctgGatgtccagcgtcttccactt	4	10	10	17	3	1	0	0	0	1	0	4	1	4	1	6	2	2	0	6	2	0	2	rs1129782		C3N-01074_TP	C3N-01074_NB	G	G																c.972G>T	p.Trp324Cys	p.W324C	ENST00000380574	10/11	151	91	60	122	122	0	strelka-varscan-mutect	SLC22A18,missense_variant,p.Trp324Cys,ENST00000380574,NM_001315501.1;SLC22A18,missense_variant,p.Trp324Cys,ENST00000312221,NM_002555.5;SLC22A18,missense_variant,p.Trp324Cys,ENST00000347936,NM_183233.2;SLC22A18,missense_variant,p.Trp226Cys,ENST00000449793,NM_001315502.1;SLC22A18,non_coding_transcript_exon_variant,,ENST00000441077,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000449603,;SLC22A18,downstream_gene_variant,,ENST00000498209,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000463571,;SLC22A18,non_coding_transcript_exon_variant,,ENST00000495518,;SLC22A18,downstream_gene_variant,,ENST00000467719,;	T	ENST00000380574	Transcript	missense_variant	1403/1755	972/1275	324/424	W/C	tgG/tgT	rs1129782	1		1	SLC22A18	HGNC	HGNC:10964	protein_coding	YES	CCDS7740.1	ENSP00000369948	Q96BI1		UPI0000070F3F	NM_001315501.1	deleterious(0.01)		10/11		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24002,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	MODERATE	1	SNV	5			1										PASS		rs1129782	.												T	3	4	73	2922441	2922441	G	T	1	0	0	0	0	1	0	0	0	14714	1188	41	2		2	SLC22A18	11	2922441	Missense_Mutation	SNP	G	C3N-01074_TP	1477056	2922441	132164181	275	23712											
HBD	0	.	GRCh38	chr11	5234167	5234168	+	Frame_Shift_Ins	INS	-	-	A																															tcaggagaggacagatccccINSaaaggactcaaagaacctct																								novel		C3N-01074_TP	C3N-01074_NB	-	-																c.138dupT	p.Gly47TrpfsTer7	p.G47Wfs*7	ENST00000380299	2/3	426	365	61	532	532	0	sindel-varindel-pindel	HBD,frameshift_variant,p.Gly47TrpfsTer7,ENST00000380299,NM_000519.3;HBD,frameshift_variant,p.Gly47TrpfsTer7,ENST00000429817,;HBD,frameshift_variant,p.Gly47TrpfsTer7,ENST00000292901,;HBD,intron_variant,,ENST00000417377,;HBB,upstream_gene_variant,,ENST00000380315,;	A	ENST00000380299	Transcript	frameshift_variant	353-354/785	138-139/444	46-47/147	-/X	-/T		1		-1	HBD	HGNC	HGNC:4829	protein_coding	YES	CCDS31376.1	ENSP00000369654	P02042	A0N071	UPI0000161DC2	NM_000519.3			2/3		PROSITE_profiles:PS01033,hmmpanther:PTHR11442:SF50,hmmpanther:PTHR11442,Pfam_domain:PF00042,Gene3D:1.10.490.10,Superfamily_domains:SSF46458																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	73	5234167	5234167	-	A	1	0	1	1	0	0	0	0	0	6865	594	21	0		0	HBD	11	5234167	Frame_Shift_Ins	INS	-	C3N-01074_TP	2311726	5234167	129852455	276	23713											
UBQLNL	0	.	GRCh38	chr11	5515398	5515398	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtggttgaccttgttaagGgtgtcattggctgaggtgtt	5	16	16	4	0	1	2	1	2	0	0	1	2	1	2	1	4	0	4	1	4	1	5	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1044C>T	p.=	p.T348T	ENST00000380184	1/1	264	181	83	296	296	0	strelka-varscan-mutect	UBQLNL,synonymous_variant,p.=,ENST00000380184,NM_145053.4;HBG2,intron_variant,,ENST00000380259,;OLFM5P,downstream_gene_variant,,ENST00000411807,;	A	ENST00000380184	Transcript	synonymous_variant	1308/2313	1044/1428	348/475	T	acC/acT		1		-1	UBQLNL	HGNC	HGNC:28294	protein_coding	YES	CCDS31385.1	ENSP00000369531	Q8IYU4		UPI000066D8EC	NM_145053.4			1/1		hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF9																	LOW		SNV				1										PASS		.	.												A	2	1	73	5515398	5515398	G	A	1	0	0	0	0	0	0	0	1	17424	1219	43	3		3	UBQLNL	11	5515398	Silent	SNP	G	C3N-01074_TP	281231	5515398	129571224	277	23714											
OR52N1	0	.	GRCh38	chr11	5788473	5788473	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccatgagcatgagcaccCcagactccatccctgtgaag	10	6	11	14	0	0	4	0	3	0	1	2	4	2	4	5	1	2	2	5	1	1	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.344G>T	p.Gly115Val	p.G115V	ENST00000317078	1/1	351	245	106	426	426	0	strelka-varscan-mutect	OR52N1,missense_variant,p.Gly115Val,ENST00000317078,NM_001001913.1;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	A	ENST00000317078	Transcript	missense_variant	344/963	344/963	115/320	G/V	gGg/gTg		1		-1	OR52N1	HGNC	HGNC:14853	protein_coding	YES	CCDS31398.1	ENSP00000322823	Q8NH53		UPI0000041BDD	NM_001001913.1	deleterious(0.02)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF145,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1467260512	.												A	3	1	73	5788473	5788473	C	A	1	0	0	0	0	1	0	0	0	11200	623	22	2		2	OR52N1	11	5788473	Missense_Mutation	SNP	C	C3N-01074_TP	273075	5788473	129298149	278	23715											
C11orf42	0	.	GRCh38	chr11	6210547	6210547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgcccccacctgtcccagCcccacctacgccacctcccc	5	6	5	25	1	0	0	0	0	0	0	2	0	2	0	11	0	3	0	11	0	1	1			C3N-01074_TP	C3N-01074_NB	C	C																c.770C>G	p.Ala257Gly	p.A257G	ENST00000316375	2/3	202	164	38	239	239	0	strelka-varscan-mutect	C11orf42,missense_variant,p.Ala257Gly,ENST00000316375,NM_173525.2;FAM160A2,downstream_gene_variant,,ENST00000265978,NM_032127.3;FAM160A2,downstream_gene_variant,,ENST00000449352,NM_001098794.1;FAM160A2,downstream_gene_variant,,ENST00000529360,;	G	ENST00000316375	Transcript	missense_variant	820/1142	770/1002	257/333	A/G	gCc/gGc	COSM5003445	1		1	C11orf42	HGNC	HGNC:28541	protein_coding	YES	CCDS7759.1	ENSP00000321021	Q8N5U0		UPI000013FD81	NM_173525.2	tolerated_low_confidence(0.25)		2/3		Pfam_domain:PF15668,hmmpanther:PTHR36872,hmmpanther:PTHR36872:SF1,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	73	6210547	6210547	C	G	1	0	0	0	0	1	0	0	0	1782	739	26	4		4	C11orf42	11	6210547	Missense_Mutation	SNP	C	C3N-01074_TP	422074	6210547	128876075	279	23716											
OR10A2	0	.	GRCh38	chr11	6870276	6870276	+	Silent	SNP	G	G	T																															agcccacctgtgctgaggctGgtctgtgcagacacagcact																								novel		C3N-01074_TP	C3N-01074_NB	G	G																c.522G>T	p.=	p.L174L	ENST00000307322	1/1	317	260	57	399	399	0	strelka-varscan-mutect	OR10A2,synonymous_variant,p.=,ENST00000307322,NM_001004460.1;RP11-413N10.3,intron_variant,,ENST00000637205,;	T	ENST00000307322	Transcript	synonymous_variant	584/1053	522/912	174/303	L	ctG/ctT		1		1	OR10A2	HGNC	HGNC:8161	protein_coding	YES	CCDS31415.1	ENSP00000303862	Q9H208		UPI000015F21C	NM_001004460.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	73	6870276	6870276	G	T	1	0	0	0	0	0	0	0	1	10966	1335	47	2		2	OR10A2	11	6870276	Silent	SNP	G	C3N-01074_TP	659729	6870276	128216346	280	23717	498	2									
OR10A2	0	.	GRCh38	chr11	6870277	6870277	+	Missense_Mutation	SNP	G	G	T																															gcccacctgtgctgaggctgGtctgtgcagacacagcactc																								novel		C3N-01074_TP	C3N-01074_NB	G	G																c.523G>T	p.Val175Phe	p.V175F	ENST00000307322	1/1	313	255	58	398	398	0	strelka-varscan-mutect	OR10A2,missense_variant,p.Val175Phe,ENST00000307322,NM_001004460.1;RP11-413N10.3,intron_variant,,ENST00000637205,;	T	ENST00000307322	Transcript	missense_variant	585/1053	523/912	175/303	V/F	Gtc/Ttc		1		1	OR10A2	HGNC	HGNC:8161	protein_coding	YES	CCDS31415.1	ENSP00000303862	Q9H208		UPI000015F21C	NM_001004460.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	73	6870277	6870277	G	T	1	0	0	0	0	1	0	0	0	10966	1261	44	2		2	OR10A2	11	6870277	Missense_Mutation	SNP	G	C3N-01074_TP	1	6870277	128216345	281	23718	498	2									
OR10A3	0	.	GRCh38	chr11	7938626	7938626	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagttttatcaaagtccTcttcatctcactgtttcgta	9	17	4	11	1	4	0	3	0	2	0	7	0	5	0	2	0	0	3	2	0	4	6	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.895A>T	p.Arg299Trp	p.R299W	ENST00000360759	1/1	158	112	46	189	188	1	strelka-varscan-mutect	OR10A3,missense_variant,p.Arg299Trp,ENST00000360759,NM_001003745.1;	A	ENST00000360759	Transcript	missense_variant	969/1061	895/945	299/314	R/W	Agg/Tgg		1		-1	OR10A3	HGNC	HGNC:8162	protein_coding	YES	CCDS31421.1	ENSP00000353988	P58181	A0A126GVZ2	UPI00000015AD	NM_001003745.1	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF30,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1218621958	.												A	3	1	73	7938626	7938626	T	A	1	0	0	0	0	1	0	0	0	10967	1550	54	4		4	OR10A3	11	7938626	Missense_Mutation	SNP	T	C3N-01074_TP	1068349	7938626	127147996	282	23719											
C11orf16	0	.	GRCh38	chr11	8926994	8926994	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagtgccagggccatactGctgttggcctggctcccaga	8	8	12	13	0	0	1	0	0	0	1	1	1	1	1	4	3	4	3	4	3	2	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.505C>G	p.Gln169Glu	p.Q169E	ENST00000326053	4/7	333	271	62	279	279	0	strelka-varscan-mutect	C11orf16,missense_variant,p.Gln169Glu,ENST00000326053,NM_020643.2;C11orf16,missense_variant,p.Gln169Glu,ENST00000525780,;C11orf16,downstream_gene_variant,,ENST00000528998,;C11orf16,downstream_gene_variant,,ENST00000526227,;C11orf16,downstream_gene_variant,,ENST00000527607,;C11orf16,downstream_gene_variant,,ENST00000528830,;	C	ENST00000326053	Transcript	missense_variant	612/1908	505/1404	169/467	Q/E	Cag/Gag		1		-1	C11orf16	HGNC	HGNC:1169	protein_coding	YES	CCDS7794.1	ENSP00000318999	Q9NQ32		UPI0000456489	NM_020643.2	deleterious(0)		4/7		hmmpanther:PTHR14343,hmmpanther:PTHR14343:SF3,Pfam_domain:PF15057																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	73	8926994	8926994	G	C	1	0	0	0	0	1	0	0	0	1777	1328	46	4		4	C11orf16	11	8926994	Missense_Mutation	SNP	G	C3N-01074_TP	988368	8926994	126159628	283	23720											
ALX4	0	.	GRCh38	chr11	44267571	44267571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcgaacctgctgcatctGcccaaaacgctcccgcttcc	7	9	8	17	3	1	0	0	0	1	0	4	1	3	0	4	1	5	5	4	1	3	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.829C>A	p.Gln277Lys	p.Q277K	ENST00000329255	3/4	296	256	40	294	293	1	strelka-varscan-mutect	ALX4,missense_variant,p.Gln277Lys,ENST00000329255,NM_021926.3;	T	ENST00000329255	Transcript	missense_variant	933/5750	829/1236	277/411	Q/K	Cag/Aag		1		-1	ALX4	HGNC	HGNC:450	protein_coding	YES	CCDS31468.1	ENSP00000332744	Q9H161		UPI000016A402	NM_021926.3	tolerated(0.26)		3/4		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF322																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	44267571	44267571	G	T	1	0	0	0	0	1	0	0	0	656	1328	46	2		2	ALX4	11	44267571	Missense_Mutation	SNP	G	C3N-01074_TP	35340577	44267571	90819051	284	23721											
OR4P4	0	.	GRCh38	chr11	55638446	55638446	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgctttgtattattttTgttttgctacattgctattt	5	24	5	7	0	1	0	0	0	1	0	1	0	1	0	1	0	4	5	1	0	4	11	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.89T>C	p.Leu30Ser	p.L30S	ENST00000314612	1/1	99	47	52	84	84	0	strelka-varscan-mutect	OR4P4,missense_variant,p.Leu30Ser,ENST00000314612,NM_001004124.2;	C	ENST00000314612	Transcript	missense_variant	89/939	89/939	30/312	L/S	tTg/tCg		1		1	OR4P4	HGNC	HGNC:15180	protein_coding	YES	CCDS31504.1	ENSP00000324831	Q8NGL7		UPI0000061E8A	NM_001004124.2	tolerated(0.23)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF386,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	73	55638446	55638446	T	C	1	0	0	0	0	1	0	0	0	11156	1821	63	5		5	OR4P4	11	55638446	Missense_Mutation	SNP	T	C3N-01074_TP	11370875	55638446	79448176	285	23722											
OR5D16	0	.	GRCh38	chr11	55839565	55839565	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccaaaaactccaggcacAcagtcaaagtggcctctgtg	13	7	8	13	0	2	0	1	0	1	0	4	0	4	0	3	2	1	1	3	2	3	0	rs750491150		C3N-01074_TP	C3N-01074_NB	A	A																c.814A>T	p.Thr272Ser	p.T272S	ENST00000378396	1/1	319	220	99	334	334	0	strelka-varscan-mutect	OR5D16,missense_variant,p.Thr272Ser,ENST00000378396,NM_001005496.1;	T	ENST00000378396	Transcript	missense_variant	814/987	814/987	272/328	T/S	Aca/Tca	rs750491150	1		1	OR5D16	HGNC	HGNC:15283	protein_coding	YES	CCDS31512.1	ENSP00000367649	Q8NGK9		UPI0000046198	NM_001005496.1	tolerated(0.24)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF243,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs750491150	.												T	3	4	73	55839565	55839565	A	T	1	0	0	0	0	1	0	0	0	11226	159	6	4		4	OR5D16	11	55839565	Missense_Mutation	SNP	A	C3N-01074_TP	201119	55839565	79247057	286	23723											
OR5M11	0	.	GRCh38	chr11	56543179	56543179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccagaaacagcacaaaaaGcagagactggagttccgggc	17	3	11	10	1	0	2	0	0	0	2	1	4	1	3	2	2	4	3	2	2	4	1	rs781692218		C3N-01074_TP	C3N-01074_NB	G	G																c.79C>T	p.Leu27Phe	p.L27F	ENST00000528616	1/1	254	211	43	216	216	0	strelka-varscan-mutect	OR5M11,missense_variant,p.Leu27Phe,ENST00000528616,NM_001005245.1;	A	ENST00000528616	Transcript	missense_variant	79/918	79/918	27/305	L/F	Ctt/Ttt	rs781692218,COSM5318905	1		-1	OR5M11	HGNC	HGNC:15291	protein_coding	YES	CCDS53629.1	ENSP00000432417	Q96RB7	A0A126GVL9	UPI00000405CF	NM_001005245.1	tolerated(0.24)		1/1		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF97,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV			0,1	1										PASS		rs781692218	.												A	3	1	73	56543179	56543179	G	A	1	0	0	0	0	1	0	0	0	11243	971	34	3		3	OR5M11	11	56543179	Missense_Mutation	SNP	G	C3N-01074_TP	703614	56543179	78543443	287	23724											
OR9Q2	0	.	GRCh38	chr11	58191251	58191251	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtcgctcttttctttggcaCcctcatcttcatgtacctgc	4	16	6	15	2	5	0	2	0	3	0	6	0	5	0	2	1	2	3	2	1	1	5	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.761C>A	p.Thr254Asn	p.T254N	ENST00000311591	1/1	169	98	71	253	249	4	strelka-varscan-mutect	OR9Q2,missense_variant,p.Thr254Asn,ENST00000311591,NM_001005283.2;	A	ENST00000311591	Transcript	missense_variant	818/1085	761/945	254/314	T/N	aCc/aAc		1		1	OR9Q2	HGNC	HGNC:15328	protein_coding	YES	CCDS31544.1	ENSP00000308714	Q8NGE9	A0A126GW85	UPI0000061ECB	NM_001005283.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF155,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	73	58191251	58191251	C	A	1	0	0	0	0	1	0	0	0	11322	507	18	2		2	OR9Q2	11	58191251	Missense_Mutation	SNP	C	C3N-01074_TP	1648072	58191251	76895371	288	23725											
OR5B17	0	.	GRCh38	chr11	58358938	58358938	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtccagcaggattaatatGatcatccccaggttcccagt	11	10	9	11	0	1	1	1	1	0	0	4	3	4	2	4	2	1	2	4	2	2	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.132C>A	p.=	p.I44I	ENST00000357377	1/1	263	223	40	297	296	1	strelka-varscan-mutect	OR5B17,synonymous_variant,p.=,ENST00000357377,NM_001005489.1;AP000435.3,upstream_gene_variant,,ENST00000528539,;	T	ENST00000357377	Transcript	synonymous_variant	132/946	132/945	44/314	I	atC/atA		1		-1	OR5B17	HGNC	HGNC:15267	protein_coding	YES	CCDS31548.1	ENSP00000349945	Q8NGF7	A0A126GVL8	UPI0000041DFA	NM_001005489.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF185,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	73	58358938	58358938	G	T	1	0	0	0	0	0	0	0	1	11220	1280	45	2		2	OR5B17	11	58358938	Silent	SNP	G	C3N-01074_TP	167687	58358938	76727684	289	23726											
MS4A14	0	.	GRCh38	chr11	60400426	60400426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcttacaggatacctcaCagtaaccgataagaaatcaa	17	10	5	9	1	3	1	2	0	1	1	3	3	3	2	2	1	3	1	2	1	7	6	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.290C>A	p.Thr97Lys	p.T97K	ENST00000531783	3/6	113	99	14	106	106	0	strelka-varscan-mutect	MS4A14,missense_variant,p.Thr97Lys,ENST00000300187,NM_032597.4;MS4A14,missense_variant,p.Thr97Lys,ENST00000531783,NM_001261828.1;MS4A14,missense_variant,p.Thr56Lys,ENST00000534688,;MS4A14,intron_variant,,ENST00000395001,NM_001261827.1;MS4A14,intron_variant,,ENST00000395005,NM_001079692.2;MS4A14,intron_variant,,ENST00000531787,;MS4A14,intron_variant,,ENST00000526375,;MS4A7,downstream_gene_variant,,ENST00000358246,NM_206940.1,NM_206938.1;MS4A14,missense_variant,p.Thr97Lys,ENST00000525397,;MS4A14,3_prime_UTR_variant,,ENST00000531949,;MS4A14,intron_variant,,ENST00000530662,;MS4A14,intron_variant,,ENST00000527841,;MS4A6E,downstream_gene_variant,,ENST00000532756,;	A	ENST00000531783	Transcript	missense_variant	381/2910	290/2139	97/712	T/K	aCa/aAa		1		1	MS4A14	HGNC	HGNC:30706	protein_coding	YES	CCDS58136.1	ENSP00000433761	Q96JA4		UPI0001F77AC2	NM_001261828.1	deleterious(0)		3/6		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	60400426	60400426	C	A	1	0	0	0	0	1	0	0	0	9835	478	17	2		2	MS4A14	11	60400426	Missense_Mutation	SNP	C	C3N-01074_TP	2041488	60400426	74686196	290	23727											
AHNAK	0	.	GRCh38	chr11	62530294	62530294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggtgccaatctgggcCatgaacatccacatctggag	10	9	10	12	0	3	1	1	1	2	0	4	2	4	2	3	3	2	0	3	3	2	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.4123G>A	p.Gly1375Ser	p.G1375S	ENST00000378024	5/5	456	311	145	471	470	1	strelka-varscan-mutect	AHNAK,missense_variant,p.Gly1375Ser,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,downstream_gene_variant,,ENST00000530285,;AHNAK,downstream_gene_variant,,ENST00000531324,;AHNAK,downstream_gene_variant,,ENST00000528508,;	T	ENST00000378024	Transcript	missense_variant	4398/18787	4123/17673	1375/5890	G/S	Ggc/Agc		1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2	tolerated(0.08)		5/5		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	73	62530294	62530294	C	T	1	0	0	0	0	1	0	0	0	491	594	21	3		3	AHNAK	11	62530294	Missense_Mutation	SNP	C	C3N-01074_TP	2129868	62530294	72556328	291	23728											
HRASLS5	0	.	GRCh38	chr11	63463570	63463570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taactgctccagcagccttcGctccttccatcagggcgtgc	6	10	9	16	2	1	0	1	0	0	0	5	0	4	0	4	1	5	3	4	1	1	3	rs35375575		C3N-01074_TP	C3N-01074_NB	G	G																c.773C>A	p.Ala258Glu	p.A258E	ENST00000301790	6/6	234	185	49	164	163	1	strelka-varscan-mutect	HRASLS5,missense_variant,p.Ala248Glu,ENST00000540857,NM_001146729.1;HRASLS5,missense_variant,p.Ser241Arg,ENST00000539221,NM_001146728.1;HRASLS5,missense_variant,p.Ala258Glu,ENST00000301790,NM_054108.3;HRASLS5,downstream_gene_variant,,ENST00000538712,;HRASLS5,3_prime_UTR_variant,,ENST00000536887,;HRASLS5,3_prime_UTR_variant,,ENST00000394615,;	T	ENST00000301790	Transcript	missense_variant	933/1166	773/840	258/279	A/E	gCg/gAg	rs35375575	1		-1	HRASLS5	HGNC	HGNC:24978	protein_coding	YES	CCDS8044.1	ENSP00000301790	Q96KN8		UPI000013E758	NM_054108.3	deleterious(0.01)		6/6		hmmpanther:PTHR13943,hmmpanther:PTHR13943:SF2																	MODERATE	1	SNV	1			1										PASS		rs35375575	.												T	3	4	73	63463570	63463570	G	T	1	0	0	0	0	1	0	0	0	7246	1087	38	1		1	HRASLS5	11	63463570	Missense_Mutation	SNP	G	C3N-01074_TP	933276	63463570	71623052	292	23729											
GAL3ST3	0	.	GRCh38	chr11	66042874	66042874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacgcgcggcccgcgcgcGccacgtggcgccagaaggtg	5	2	17	17	10	0	1	0	0	0	1	0	1	0	1	3	3	0	1	3	3	1	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.929C>A	p.Ala310Glu	p.A310E	ENST00000312006	3/3	67	34	33	60	60	0	strelka-varscan-mutect	GAL3ST3,missense_variant,p.Ala310Glu,ENST00000312006,NM_033036.2;GAL3ST3,missense_variant,p.Ala310Glu,ENST00000527878,;GAL3ST3,downstream_gene_variant,,ENST00000527048,;	T	ENST00000312006	Transcript	missense_variant	1211/2133	929/1296	310/431	A/E	gCg/gAg		1		-1	GAL3ST3	HGNC	HGNC:24144	protein_coding	YES	CCDS8128.1	ENSP00000308591	Q96A11		UPI0000071842	NM_033036.2	tolerated(0.98)		3/3		hmmpanther:PTHR14647:SF1,hmmpanther:PTHR14647,Pfam_domain:PF06990																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	66042874	66042874	G	T	1	0	0	0	0	1	0	0	0	6067	1087	38	1		1	GAL3ST3	11	66042874	Missense_Mutation	SNP	G	C3N-01074_TP	2579304	66042874	69043748	293	23730											
GPR152	0	.	GRCh38	chr11	67452632	67452632	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaccaggaagaccgtgtcCcagccaccttgggggtagga	9	5	14	13	1	0	1	0	0	0	1	1	3	1	3	6	4	1	1	6	4	2	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.93G>T	p.Trp31Cys	p.W31C	ENST00000312457	1/1	82	61	21	110	110	0	strelka-varscan-mutect	GPR152,missense_variant,p.Trp31Cys,ENST00000312457,NM_206997.1;CABP4,5_prime_UTR_variant,,ENST00000438189,NM_001300896.1,NM_001300895.1;CABP4,upstream_gene_variant,,ENST00000325656,NM_145200.3;CABP4,non_coding_transcript_exon_variant,,ENST00000542025,;CABP4,non_coding_transcript_exon_variant,,ENST00000538060,;CABP4,upstream_gene_variant,,ENST00000542233,;CABP4,non_coding_transcript_exon_variant,,ENST00000545040,;CABP4,upstream_gene_variant,,ENST00000545777,;	A	ENST00000312457	Transcript	missense_variant	98/1429	93/1413	31/470	W/C	tgG/tgT		1		-1	GPR152	HGNC	HGNC:23622	protein_coding	YES	CCDS8165.1	ENSP00000310255	Q8TDT2	A0A0I9RJ67	UPI000003B364	NM_206997.1	deleterious(0)		1/1		hmmpanther:PTHR11334:SF1,hmmpanther:PTHR11334,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE		SNV				1										PASS		.	.												A	3	1	73	67452632	67452632	C	A	1	0	0	0	0	1	0	0	0	6544	624	22	2		2	GPR152	11	67452632	Missense_Mutation	SNP	C	C3N-01074_TP	1409758	67452632	67633990	294	23731											
TENM4	0	.	GRCh38	chr11	78771057	78771057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacagccagctcctctcCagcccagctggcagacgcag	8	6	10	17	1	2	1	1	0	1	1	4	1	3	1	4	1	4	4	4	1	0	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2474G>T	p.Trp825Leu	p.W825L	ENST00000278550	18/34	340	225	115	275	274	1	strelka-varscan-mutect	TENM4,missense_variant,p.Trp825Leu,ENST00000278550,NM_001098816.2;TENM4,missense_variant,p.Trp130Leu,ENST00000533525,;	A	ENST00000278550	Transcript	missense_variant	2937/14000	2474/8310	825/2769	W/L	tGg/tTg		1		-1	TENM4	HGNC	HGNC:29945	protein_coding	YES	CCDS44688.1	ENSP00000278550	Q6N022		UPI0000DD8112	NM_001098816.2	deleterious(0)		18/34		PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF9,SMART_domains:SM00181																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	78771057	78771057	C	A	1	0	0	0	0	1	0	0	0	16174	595	21	2		2	TENM4	11	78771057	Missense_Mutation	SNP	C	C3N-01074_TP	11318425	78771057	56315565	295	23732											
FAT3	0	.	GRCh38	chr11	92844497	92844497	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggtggagatgcacagcagCgagttctacaagccagccta	11	6	13	11	2	1	1	0	0	1	1	1	3	1	1	2	2	6	3	2	2	3	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.10680C>T	p.=	p.S3560S	ENST00000525166	18/27	263	215	48	276	276	0	strelka-varscan-mutect	FAT3,synonymous_variant,p.=,ENST00000409404,NM_001008781.2;FAT3,synonymous_variant,p.=,ENST00000525166,;FAT3,synonymous_variant,p.=,ENST00000533797,;	T	ENST00000525166	Transcript	synonymous_variant	10702/18699	10680/13320	3560/4439	S	agC/agT		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895				18/27		hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	73	92844497	92844497	C	T	1	0	0	0	0	0	0	0	1	5551	767	27	1		1	FAT3	11	92844497	Silent	SNP	C	C3N-01074_TP	14073440	92844497	42242125	296	23733											
PIWIL4	0	.	GRCh38	chr11	94595401	94595401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggccggcagcagcgcctgGccaggcttgtggacaacatc	8	5	14	14	2	0	0	0	0	0	0	1	1	0	1	3	5	3	3	3	5	1	1			C3N-01074_TP	C3N-01074_NB	G	G																c.1243G>T	p.Ala415Ser	p.A415S	ENST00000299001	10/20	97	58	39	76	76	0	strelka-varscan-mutect	PIWIL4,missense_variant,p.Ala415Ser,ENST00000299001,NM_152431.2;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,missense_variant,p.Ala388Ser,ENST00000446230,;PIWIL4,missense_variant,p.Ala346Ser,ENST00000543336,;	T	ENST00000299001	Transcript	missense_variant	1454/3199	1243/2559	415/852	A/S	Gcc/Tcc	COSM5023072	1		1	PIWIL4	HGNC	HGNC:18444	protein_coding	YES	CCDS31656.1	ENSP00000299001	Q7Z3Z4	A0A140VKG8	UPI000006D0EC	NM_152431.2	tolerated(0.58)		10/20		hmmpanther:PTHR22891:SF43,hmmpanther:PTHR22891,Superfamily_domains:SSF101690											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	73	94595401	94595401	G	T	1	0	0	0	0	1	0	0	0	12056	1203	42	2		2	PIWIL4	11	94595401	Missense_Mutation	SNP	G	C3N-01074_TP	1750904	94595401	40491221	297	23734											
TRPC6	0	.	GRCh38	chr11	101504759	101504759	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccttctcacggagaacTgtctgccgccggtgagccag	6	8	11	16	3	2	2	1	1	2	1	4	3	3	2	5	2	3	0	5	2	1	1	rs141153400		C3N-01074_TP	C3N-01074_NB	T	T																c.210A>C	p.=	p.T70T	ENST00000344327	2/13	56	37	19	72	72	0	strelka-varscan-mutect	TRPC6,synonymous_variant,p.=,ENST00000344327,NM_004621.5;TRPC6,synonymous_variant,p.=,ENST00000532133,;TRPC6,synonymous_variant,p.=,ENST00000360497,;TRPC6,synonymous_variant,p.=,ENST00000348423,;TRPC6,non_coding_transcript_exon_variant,,ENST00000526713,;TRPC6,upstream_gene_variant,,ENST00000527240,;	G	ENST00000344327	Transcript	synonymous_variant	635/4612	210/2796	70/931	T	acA/acC	rs141153400	1		-1	TRPC6	HGNC	HGNC:12338	protein_coding	YES	CCDS8311.1	ENSP00000340913	Q9Y210		UPI00001374BA	NM_004621.5			2/13		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7																	LOW	1	SNV	1			1										PASS		rs141153400	.												G	2	3	73	101504759	101504759	T	G	1	0	0	0	0	0	0	0	1	17089	1567	55	5		5	TRPC6	11	101504759	Silent	SNP	T	C3N-01074_TP	6909358	101504759	33581863	298	23735											
UBE4A	0	.	GRCh38	chr11	118369536	118369536	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atatgagcaatgttgagcagGtaatattcttacgttcctaa	13	14	8	6	1	1	2	0	2	1	0	2	2	2	2	1	1	3	5	1	1	6	8	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.408+1G>T		p.X136_splice	ENST00000431736		213	139	74	166	166	0	strelka-varscan-mutect	UBE4A,splice_donor_variant,,ENST00000252108,NM_001204077.1;UBE4A,splice_donor_variant,,ENST00000431736,NM_004788.3;	T	ENST00000431736	Transcript	splice_donor_variant	-/6061	408/3222	136/1073				1		1	UBE4A	HGNC	HGNC:12499	protein_coding	YES	CCDS8396.1	ENSP00000387362	Q14139		UPI000013CD3F	NM_004788.3				4/19																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	73	118369536	118369536	G	T	1	0	0	0	0	0	0	1	0	17406	1275	44	2		2	UBE4A	11	118369536	Splice_Site	SNP	G	C3N-01074_TP	16864777	118369536	16717086	299	23736											
PHLDB1	0	.	GRCh38	chr11	118644084	118644084	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcagagcgctctactcAcccagaatggcacgggcagc	9	6	11	15	2	3	2	1	0	2	2	3	2	3	2	1	2	4	4	1	2	2	1	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.3031A>T	p.Thr1011Ser	p.T1011S	ENST00000361417	16/24	251	211	40	194	194	0	strelka-varscan-mutect	PHLDB1,missense_variant,p.Thr1011Ser,ENST00000361417,NM_015157.3;PHLDB1,missense_variant,p.Thr1011Ser,ENST00000600882,NM_001144758.2;PHLDB1,missense_variant,p.Thr964Ser,ENST00000356063,NM_001144759.2;PHLDB1,missense_variant,p.Thr286Ser,ENST00000534140,;PHLDB1,intron_variant,,ENST00000601898,;PHLDB1,downstream_gene_variant,,ENST00000613413,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000614369,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000527898,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000524713,;PHLDB1,intron_variant,,ENST00000528875,;PHLDB1,upstream_gene_variant,,ENST00000529005,;PHLDB1,downstream_gene_variant,,ENST00000527500,;PHLDB1,missense_variant,p.Thr964Ser,ENST00000530994,;PHLDB1,missense_variant,p.Thr964Ser,ENST00000528594,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000532517,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000392852,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000531987,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000526826,;PHLDB1,downstream_gene_variant,,ENST00000612681,;PHLDB1,upstream_gene_variant,,ENST00000526537,;PHLDB1,upstream_gene_variant,,ENST00000525226,;PHLDB1,downstream_gene_variant,,ENST00000526699,;	T	ENST00000361417	Transcript	missense_variant	3442/5753	3031/4134	1011/1377	T/S	Acc/Tcc		1		1	PHLDB1	HGNC	HGNC:23697	protein_coding	YES	CCDS8401.1	ENSP00000354498	Q86UU1	A0A024R3H6	UPI0000192101	NM_015157.3	tolerated(0.61)		16/24		hmmpanther:PTHR12156:SF23,hmmpanther:PTHR12156																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	118644084	118644084	A	T	1	0	0	0	0	1	0	0	0	11939	159	6	4		4	PHLDB1	11	118644084	Missense_Mutation	SNP	A	C3N-01074_TP	274548	118644084	16442538	300	23737											
TMEM225	0	.	GRCh38	chr11	123885365	123885365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccatcaccattaagactaCggcccaggaggagaaaagta	15	6	9	11	1	1	2	1	0	0	2	2	4	2	3	3	3	1	1	3	3	5	3	rs760483112		C3N-01074_TP	C3N-01074_NB	C	C																c.61G>T	p.Val21Leu	p.V21L	ENST00000375026	1/4	220	190	30	238	238	0	strelka-varscan-mutect	TMEM225,missense_variant,p.Val21Leu,ENST00000375026,NM_001013743.2;TMEM225,intron_variant,,ENST00000528595,;	A	ENST00000375026	Transcript	missense_variant	278/1107	61/678	21/225	V/L	Gta/Tta	rs760483112	1		-1	TMEM225	HGNC	HGNC:32390	protein_coding	YES	CCDS31697.1	ENSP00000364166	Q6GV28		UPI000443236D	NM_001013743.2	tolerated(1)		1/4		Transmembrane_helices:TMhelix,hmmpanther:PTHR36477																	MODERATE	1	SNV	1			1										PASS		rs760483112	.												A	3	1	73	123885365	123885365	C	A	1	0	0	0	0	1	0	0	0	16588	536	19	1		1	TMEM225	11	123885365	Missense_Mutation	SNP	C	C3N-01074_TP	5241281	123885365	11201257	301	23738											
OR10G4	0	.	GRCh38	chr11	124016288	124016288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcgcagagcctttcaGacctgtgcctcccactgtat	7	9	12	13	1	1	2	1	0	0	2	2	3	2	3	4	2	2	2	4	2	1	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.714G>T	p.Gln238His	p.Q238H	ENST00000320891	1/1	155	133	22	238	238	0	strelka-varscan-mutect	OR10G4,missense_variant,p.Gln238His,ENST00000320891,NM_001004462.1;	T	ENST00000320891	Transcript	missense_variant	714/936	714/936	238/311	Q/H	caG/caT		1		1	OR10G4	HGNC	HGNC:14809	protein_coding	YES	CCDS31702.1	ENSP00000325076	Q8NGN3	A0A126GWS5	UPI0000041BAD	NM_001004462.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF6,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	73	124016288	124016288	G	T	1	0	0	0	0	1	0	0	0	10977	933	33	2		2	OR10G4	11	124016288	Missense_Mutation	SNP	G	C3N-01074_TP	130923	124016288	11070334	302	23739											
OR8D1	0	.	GRCh38	chr11	124310084	124310084	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggccctctgaggagcggAtgtgaaggatgctgtagagg	9	7	17	8	2	1	3	0	2	1	1	1	6	1	6	2	5	2	2	2	5	2	1	rs199953194		C3N-01074_TP	C3N-01074_NB	A	A																c.683T>C	p.Ile228Thr	p.I228T	ENST00000357821	1/1	164	106	58	199	199	0	strelka-varscan-mutect	OR8D1,missense_variant,p.Ile228Thr,ENST00000357821,NM_001002917.1;	G	ENST00000357821	Transcript	missense_variant	754/1026	683/927	228/308	I/T	aTc/aCc	rs199953194	1		-1	OR8D1	HGNC	HGNC:8481	protein_coding	YES	CCDS31706.1	ENSP00000350474	Q8WZ84	A0A126GVG6	UPI0000041D9D	NM_001002917.1	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF66,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs199953194	.												G	3	3	73	124310084	124310084	A	G	1	0	0	0	0	1	0	0	0	11301	333	12	5		5	OR8D1	11	124310084	Missense_Mutation	SNP	A	C3N-01074_TP	293796	124310084	10776538	303	23740											
PANX3	0	.	GRCh38	chr11	124611627	124611627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaccgcaggggaccccGcctcaaaggactgcgtctgg	7	5	14	15	3	2	1	1	1	1	0	2	3	2	3	5	4	1	1	5	4	1	0	rs147954369		C3N-01074_TP	C3N-01074_NB	G	G																c.71G>T	p.Arg24Leu	p.R24L	ENST00000284288	1/4	242	203	39	198	198	0	strelka-varscan-mutect	PANX3,missense_variant,p.Arg24Leu,ENST00000284288,NM_052959.2;	T	ENST00000284288	Transcript	missense_variant	138/1667	71/1179	24/392	R/L	cGc/cTc	rs147954369,COSM3666159	1		1	PANX3	HGNC	HGNC:20573	protein_coding	YES	CCDS8447.1	ENSP00000284288	Q96QZ0		UPI0000131264	NM_052959.2	deleterious(0.02)		1/4		hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF3											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs147954369	.												T	3	4	73	124611627	124611627	G	T	1	0	0	0	0	1	0	0	0	11503	1087	38	1		1	PANX3	11	124611627	Missense_Mutation	SNP	G	C3N-01074_TP	301543	124611627	10474995	304	23741											
KIRREL3	0	.	GRCh38	chr11	126521454	126521454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttccctaccaccaggtaCtgtgggtaacctgtggagac	8	10	12	11	0	0	1	0	0	0	1	1	2	1	1	4	4	3	3	4	4	3	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.294G>T	p.Gln98His	p.Q98H	ENST00000525144	4/17	141	118	23	110	110	0	strelka-varscan-mutect	KIRREL3,missense_variant,p.Gln98His,ENST00000525144,NM_032531.3;KIRREL3,missense_variant,p.Gln98His,ENST00000529097,NM_001301097.1;KIRREL3,missense_variant,p.Gln98His,ENST00000525704,NM_001161707.1;	A	ENST00000525144	Transcript	missense_variant	544/3808	294/2337	98/778	Q/H	caG/caT		1		-1	KIRREL3	HGNC	HGNC:23204	protein_coding	YES	CCDS53723.1	ENSP00000435466	Q8IZU9		UPI00000740A0	NM_032531.3	deleterious(0)		4/17		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF49,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1367795436	.												A	3	1	73	126521454	126521454	C	A	1	0	0	0	0	1	0	0	0	8190	564	20	2		2	KIRREL3	11	126521454	Missense_Mutation	SNP	C	C3N-01074_TP	1909827	126521454	8565168	305	23742											
ST14	0	.	GRCh38	chr11	130194696	130194696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagcccctactacccaGgccactacccacccaacatt	12	6	3	20	0	1	0	1	0	0	0	1	0	1	0	6	1	6	0	6	1	5	4	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1072G>T	p.Gly358Cys	p.G358C	ENST00000278742	9/19	668	569	99	484	483	1	strelka-varscan-mutect	ST14,missense_variant,p.Gly358Cys,ENST00000278742,NM_021978.3;ST14,non_coding_transcript_exon_variant,,ENST00000530532,;ST14,non_coding_transcript_exon_variant,,ENST00000524718,;ST14,non_coding_transcript_exon_variant,,ENST00000530376,;	T	ENST00000278742	Transcript	missense_variant	1490/3539	1072/2568	358/855	G/C	Ggc/Tgc		1		1	ST14	HGNC	HGNC:11344	protein_coding	YES	CCDS8487.1	ENSP00000278742	Q9Y5Y6		UPI00000012E9	NM_021978.3	deleterious(0)		9/19		Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF036370,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	130194696	130194696	G	T	1	0	0	0	0	1	0	0	0	15589	1000	35	2		2	ST14	11	130194696	Missense_Mutation	SNP	G	C3N-01074_TP	3673242	130194696	4891926	306	23743											
ADAMTS8	0	.	GRCh38	chr11	130408570	130408570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaccacatggtcacagcCggccttgacacactggccac	9	6	9	17	1	1	1	1	1	0	0	2	1	2	1	5	3	1	0	5	3	0	1	rs776551880		C3N-01074_TP	C3N-01074_NB	C	C																c.1993G>A	p.Gly665Ser	p.G665S	ENST00000257359	8/9	329	228	101	269	269	0	strelka-varscan-mutect	ADAMTS8,missense_variant,p.Gly665Ser,ENST00000257359,NM_007037.4;RP11-121M22.1,downstream_gene_variant,,ENST00000616197,;ADAMTS8,non_coding_transcript_exon_variant,,ENST00000531752,;	T	ENST00000257359	Transcript	missense_variant	2700/4010	1993/2670	665/889	G/S	Ggc/Agc	rs776551880,COSM4019362,COSM4019363,COSM4019364	1		-1	ADAMTS8	HGNC	HGNC:224	protein_coding	YES	CCDS41732.1	ENSP00000257359	Q9UP79		UPI000013CF5D	NM_007037.4	deleterious(0)		8/9		hmmpanther:PTHR13723:SF41,hmmpanther:PTHR13723,Prints_domain:PR01857											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs776551880	.												T	3	4	73	130408570	130408570	C	T	1	0	0	0	0	1	0	0	0	316	652	23	1		1	ADAMTS8	11	130408570	Missense_Mutation	SNP	C	C3N-01074_TP	213874	130408570	4678052	307	23744											
KDM5A	0	.	GRCh38	chr12	318362	318362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccacatagagactagagcCcatatctatcaacatctgga	14	10	6	11	0	3	2	1	0	2	2	4	4	4	3	2	1	2	0	2	1	5	5	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2641G>T	p.Gly881Cys	p.G881C	ENST00000399788	19/28	482	202	280	287	287	0	strelka-varscan-mutect	KDM5A,missense_variant,p.Gly881Cys,ENST00000399788,NM_001042603.2;KDM5A,missense_variant,p.Gly500Cys,ENST00000544760,;KDM5A,downstream_gene_variant,,ENST00000541335,;	A	ENST00000399788	Transcript	missense_variant	3004/10763	2641/5073	881/1690	G/C	Ggc/Tgc		1		-1	KDM5A	HGNC	HGNC:9886	protein_coding	YES	CCDS41736.1	ENSP00000382688	P29375		UPI0000DB2E73	NM_001042603.2	deleterious(0)		19/28		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF17,Pfam_domain:PF08429																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	318362	318362	C	A	1	0	0	0	0	1	0	0	0	8051	623	22	2		2	KDM5A	12	318362	Missense_Mutation	SNP	C	C3N-01074_TP		318362	132956947	308	23745											
KCNA5	0	.	GRCh38	chr12	5044738	5044738	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctccctggacgtgttcgcGgacgagatacgcttctacca	7	10	11	13	5	2	1	0	0	2	1	4	4	2	3	2	2	2	2	2	2	2	4	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.591G>T	p.=	p.A197A	ENST00000252321	1/1	761	622	139	415	414	1	strelka-varscan-mutect	KCNA5,synonymous_variant,p.=,ENST00000252321,NM_002234.3;	T	ENST00000252321	Transcript	synonymous_variant	750/2800	591/1842	197/613	A	gcG/gcT		1		1	KCNA5	HGNC	HGNC:6224	protein_coding	YES	CCDS8536.1	ENSP00000252321	P22460		UPI000013CD56	NM_002234.3			1/1		Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25,SMART_domains:SM00225,Superfamily_domains:SSF54695																	LOW	1	SNV				1										PASS		rs1443012925	.												T	2	4	73	5044738	5044738	G	T	1	0	0	0	0	0	0	0	1	7922	1103	39	1		1	KCNA5	12	5044738	Silent	SNP	G	C3N-01074_TP	4726376	5044738	128230571	309	23746											
ACSM4	0	.	GRCh38	chr12	7324552	7324552	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcattgagcatccagcagTtgttgaatcggctgttgtca	9	13	10	9	1	2	2	2	2	0	0	4	2	3	2	1	1	2	6	1	1	1	4	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.1490T>A	p.Val497Asp	p.V497D	ENST00000399422	11/13	803	365	438	436	436	0	strelka-varscan-mutect	ACSM4,missense_variant,p.Val497Asp,ENST00000399422,NM_001080454.1;	A	ENST00000399422	Transcript	missense_variant	1538/2142	1490/1743	497/580	V/D	gTt/gAt		1		1	ACSM4	HGNC	HGNC:32016	protein_coding	YES	CCDS44825.1	ENSP00000382349	P0C7M7		UPI0000DD812A	NM_001080454.1	deleterious(0)		11/13		Low_complexity_(Seg):seg,hmmpanther:PTHR24095:SF127,hmmpanther:PTHR24095,Gene3D:3.30.300.30,Pfam_domain:PF13193,Superfamily_domains:SSF56801																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	7324552	7324552	T	A	1	0	0	0	0	1	0	0	0	228	1725	60	4		4	ACSM4	12	7324552	Missense_Mutation	SNP	T	C3N-01074_TP	2279814	7324552	125950757	310	23747											
MFAP5	0	.	GRCh38	chr12	8660895	8660895	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgacccccaggggtatcCagtctatagcaaaggaagag	13	8	11	9	0	1	2	0	1	1	1	2	3	2	3	3	3	1	2	3	3	6	5	rs724159961		C3N-01074_TP	C3N-01074_NB	C	C																c.62G>A	p.Trp21Ter	p.W21*	ENST00000359478	3/10	295	159	136	179	179	0	strelka-varscan-mutect	MFAP5,stop_gained,p.Trp21Ter,ENST00000359478,NM_003480.3;MFAP5,stop_gained,p.Trp21Ter,ENST00000433590,NM_001297711.1;MFAP5,stop_gained,p.Trp21Ter,ENST00000396549,NM_001297709.1;MFAP5,stop_gained,p.Trp11Ter,ENST00000535411,;MFAP5,stop_gained,p.Trp21Ter,ENST00000544889,;MFAP5,stop_gained,p.Trp21Ter,ENST00000535336,NM_001297712.1;MFAP5,stop_gained,p.Trp21Ter,ENST00000540087,;MFAP5,intron_variant,,ENST00000543369,NM_001297710.1;RP11-20D14.3,upstream_gene_variant,,ENST00000544922,;RP11-20D14.3,upstream_gene_variant,,ENST00000539089,;MFAP5,non_coding_transcript_exon_variant,,ENST00000538107,;MFAP5,upstream_gene_variant,,ENST00000538694,;MFAP5,stop_gained,p.Trp21Ter,ENST00000544211,;MFAP5,stop_gained,p.Trp21Ter,ENST00000537009,;MFAP5,non_coding_transcript_exon_variant,,ENST00000537128,;MFAP5,non_coding_transcript_exon_variant,,ENST00000534833,;	T	ENST00000359478	Transcript	stop_gained	250/2845	62/522	21/173	W/*	tGg/tAg	rs724159961	1		-1	MFAP5	HGNC	HGNC:29673	protein_coding	YES	CCDS8595.1	ENSP00000352455	Q13361		UPI000012F034	NM_003480.3			3/10		Pfam_domain:PF05507,hmmpanther:PTHR16485,hmmpanther:PTHR16485:SF6,Cleavage_site_(Signalp):SignalP-noTM										pathogenic							HIGH	1	SNV	1		1	1										PASS		rs724159961	.												T	4	4	73	8660895	8660895	C	T	1	0	0	0	0	0	1	0	0	9471	608	21	3		3	MFAP5	12	8660895	Nonsense_Mutation	SNP	C	C3N-01074_TP	1336343	8660895	124614414	311	23748											
PZP	0	.	GRCh38	chr12	9160393	9160393	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatagttcaagacataGatgttaggagcaaataggac	16	10	10	5	0	2	3	2	0	0	3	2	5	2	5	0	2	1	3	0	2	6	6	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.2970C>A	p.=	p.I990I	ENST00000261336	24/36	406	188	218	217	217	0	strelka-varscan-mutect	PZP,synonymous_variant,p.=,ENST00000261336,NM_002864.2;PZP,downstream_gene_variant,,ENST00000539983,;PZP,downstream_gene_variant,,ENST00000546197,;PZP,downstream_gene_variant,,ENST00000543108,;PZP,downstream_gene_variant,,ENST00000540995,;PZP,3_prime_UTR_variant,,ENST00000535230,;TPT1P12,upstream_gene_variant,,ENST00000448968,;	T	ENST00000261336	Transcript	synonymous_variant	2999/4610	2970/4449	990/1482	I	atC/atA		1		-1	PZP	HGNC	HGNC:9750	protein_coding	YES	CCDS8600.1	ENSP00000261336	P20742		UPI000013D168	NM_002864.2			24/36		Gene3D:1.50.10.20,Pfam_domain:PF10569,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF92,Superfamily_domains:SSF48239																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	73	9160393	9160393	G	T	1	0	0	0	0	0	0	0	1	13025	932	33	2		2	PZP	12	9160393	Silent	SNP	G	C3N-01074_TP	499498	9160393	124114916	312	23749											
CLEC9A	0	.	GRCh38	chr12	10061176	10061176	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaagaaaaactcatccaAcaagagagggcactgctaaa	19	4	8	10	0	1	2	1	0	0	2	2	3	2	2	1	1	4	3	1	1	7	1	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.222A>T	p.Gln74His	p.Q74H	ENST00000355819	6/9	692	630	62	373	373	0	strelka-varscan-mutect	CLEC9A,missense_variant,p.Gln74His,ENST00000355819,NM_207345.3;CLEC9A,non_coding_transcript_exon_variant,,ENST00000538482,;	T	ENST00000355819	Transcript	missense_variant	835/1734	222/726	74/241	Q/H	caA/caT		1		1	CLEC9A	HGNC	HGNC:26705	protein_coding	YES	CCDS8611.1	ENSP00000348074	Q6UXN8		UPI00001D696C	NM_207345.3	tolerated(0.13)		6/9		hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF171																	MODERATE	1	SNV	1			1										PASS		rs1158095754	.												T	3	4	73	10061176	10061176	A	T	1	0	0	0	0	1	0	0	0	3290	40	2	4		4	CLEC9A	12	10061176	Missense_Mutation	SNP	A	C3N-01074_TP	900783	10061176	123214133	313	23750											
EPS8	0	.	GRCh38	chr12	15670901	15670901	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacacactgctgacactgtcCcgtgcataattcttcctttg	8	13	7	13	1	1	1	0	1	1	0	3	2	3	1	2	0	2	2	2	0	1	4	rs779513717		C3N-01074_TP	C3N-01074_NB	C	C																c.159G>T	p.=	p.R53R	ENST00000281172	4/21	499	399	100	244	242	2	strelka-varscan-mutect	EPS8,synonymous_variant,p.=,ENST00000281172,NM_004447.5;EPS8,synonymous_variant,p.=,ENST00000543523,;EPS8,synonymous_variant,p.=,ENST00000543612,;EPS8,synonymous_variant,p.=,ENST00000544064,;EPS8,synonymous_variant,p.=,ENST00000536793,;EPS8,synonymous_variant,p.=,ENST00000535752,;EPS8,synonymous_variant,p.=,ENST00000546311,;EPS8,synonymous_variant,p.=,ENST00000543363,;RNU6-251P,downstream_gene_variant,,ENST00000363235,;EPS8,stop_gained,p.Gly28Ter,ENST00000536956,;EPS8,synonymous_variant,p.=,ENST00000543468,;EPS8,upstream_gene_variant,,ENST00000508018,;EPS8,upstream_gene_variant,,ENST00000546261,;	A	ENST00000281172	Transcript	synonymous_variant	596/4061	159/2469	53/822	R	cgG/cgT	rs779513717	1		-1	EPS8	HGNC	HGNC:3420	protein_coding	YES	CCDS31753.1	ENSP00000281172	Q12929		UPI000012A0BC	NM_004447.5			4/21		hmmpanther:PTHR12287:SF21,hmmpanther:PTHR12287																	LOW	1	SNV	1			1										PASS		rs779513717	.												A	2	1	73	15670901	15670901	C	A	1	0	0	0	0	0	0	0	1	5042	610	22	2		2	EPS8	12	15670901	Silent	SNP	C	C3N-01074_TP	5609725	15670901	117604408	314	23751											
SLCO1B1	0	.	GRCh38	chr12	21205988	21205988	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaataacttacatctcaccCtgtctagcaggttgcaaatc	12	11	7	11	0	2	0	1	0	2	0	4	1	2	1	1	2	4	3	1	2	5	4	rs74064211		C3N-01074_TP	C3N-01074_NB	C	C																c.1452C>A	p.=	p.P484P	ENST00000256958	11/15	570	253	317	379	379	0	strelka-varscan-mutect	SLCO1B1,synonymous_variant,p.=,ENST00000256958,NM_006446.4;	A	ENST00000256958	Transcript	synonymous_variant	1548/2229	1452/2076	484/691	P	ccC/ccA	rs74064211	1		1	SLCO1B1	HGNC	HGNC:10959	protein_coding	YES	CCDS8685.1	ENSP00000256958	Q9Y6L6	A0A024RAU7	UPI0000043BED	NM_006446.4			11/15		Gene3D:3.30.60.30,Pfam_domain:PF03137,Pfam_domain:PF07648,PROSITE_profiles:PS50850,PROSITE_profiles:PS51465,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF82,Superfamily_domains:SSF100895,TIGRFAM_domain:TIGR00805																	LOW	1	SNV	1			1										PASS		rs74064211	.												A	2	1	73	21205988	21205988	C	A	1	0	0	0	0	0	0	0	1	15009	668	24	2		2	SLCO1B1	12	21205988	Silent	SNP	C	C3N-01074_TP	5535087	21205988	112069321	315	23752											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3N-01074_TP	C3N-01074_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	974	353	621	440	439	1	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												A	3	1	73	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	C3N-01074_TP	4039363	25245351	108029958	316	23753											
OVCH1	0	.	GRCh38	chr12	29455334	29455334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctggacacagccagctccCcagctgacaatgccatagag	11	5	11	14	0	0	2	0	1	0	1	1	3	1	3	4	2	4	3	4	2	2	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2352G>T	p.Trp784Cys	p.W784C	ENST00000318184	20/28	702	639	63	202	202	0	strelka-varscan-mutect	OVCH1,missense_variant,p.Trp784Cys,ENST00000318184,NM_183378.2;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;OVCH1-AS1,intron_variant,,ENST00000550906,;	A	ENST00000318184	Transcript	missense_variant	2352/3405	2352/3405	784/1134	W/C	tgG/tgT		1		-1	OVCH1	HGNC	HGNC:23080	protein_coding	YES		ENSP00000326708	Q7RTY7		UPI000040640A	NM_183378.2	deleterious(0.01)		20/28		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24251,hmmpanther:PTHR24251:SF17,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	2			1										PASS		rs894730241	.												A	3	1	73	29455334	29455334	C	A	1	0	0	0	0	1	0	0	0	11393	624	22	2		2	OVCH1	12	29455334	Missense_Mutation	SNP	C	C3N-01074_TP	4209983	29455334	103819975	317	23754											
OVOS2	0	.	GRCh38	chr12	31125566	31125566	+	Missense_Mutation	SNP	C	C	A																															ttgggtttcctttctctttcCcagtagatgacattatctga																								novel		C3N-01074_TP	C3N-01074_NB	C	C																c.3489G>T	p.Trp1163Cys	p.W1163C	ENST00000632817	27/34	512	467	45	196	196	0	varscan-mutect	OVOS2,missense_variant,p.Trp1163Cys,ENST00000398963,;OVOS2,missense_variant,p.Trp1163Cys,ENST00000632817,;	A	ENST00000632817	Transcript	missense_variant	3489/4299	3489/4299	1163/1432	W/C	tgG/tgT		1		-1	OVOS2	Clone_based_vega_gene		protein_coding	YES		ENSP00000487815		A0A0J9YW53	UPI0001AE6AF7		deleterious(0)		27/34		hmmpanther:PTHR11412:SF77,hmmpanther:PTHR11412,Gene3D:1.50.10.20,Pfam_domain:PF07678,Superfamily_domains:SSF48239																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	31125566	31125566	C	A	1	0	0	0	0	1	0	0	0	11399	624	22	2		2	OVOS2	12	31125566	Missense_Mutation	SNP	C	C3N-01074_TP	1670232	31125566	102149743	318	23755	499	2									
OVOS2	0	.	GRCh38	chr12	31125567	31125567	+	Missense_Mutation	SNP	C	C	A																															tgggtttcctttctctttccCagtagatgacattatctgag																								novel		C3N-01074_TP	C3N-01074_NB	C	C																c.3488G>T	p.Trp1163Leu	p.W1163L	ENST00000632817	27/34	511	468	43	195	195	0	varscan-mutect	OVOS2,missense_variant,p.Trp1163Leu,ENST00000398963,;OVOS2,missense_variant,p.Trp1163Leu,ENST00000632817,;	A	ENST00000632817	Transcript	missense_variant	3488/4299	3488/4299	1163/1432	W/L	tGg/tTg		1		-1	OVOS2	Clone_based_vega_gene		protein_coding	YES		ENSP00000487815		A0A0J9YW53	UPI0001AE6AF7		deleterious(0)		27/34		hmmpanther:PTHR11412:SF77,hmmpanther:PTHR11412,Gene3D:1.50.10.20,Pfam_domain:PF07678,Superfamily_domains:SSF48239																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	31125567	31125567	C	A	1	0	0	0	0	1	0	0	0	11399	595	21	2		2	OVOS2	12	31125567	Missense_Mutation	SNP	C	C3N-01074_TP	1	31125567	102149742	319	23756	499	2									
OVOS2	0	.	GRCh38	chr12	31139215	31139215	+	Frame_Shift_Del	DEL	G	G	-																															catggtagaaataaccatacGgctctatacttggaaccatg																								rs538258593		C3N-01074_TP	C3N-01074_NB	G	G																c.1820delC	p.Pro607ArgfsTer35	p.P607Rfs*35	ENST00000632817	14/34	150	41	109	75	75	0	sindel-varindel	OVOS2,frameshift_variant,p.Pro607ArgfsTer35,ENST00000398963,;OVOS2,frameshift_variant,p.Pro607ArgfsTer35,ENST00000632817,;	-	ENST00000632817	Transcript	frameshift_variant	1820/4299	1820/4299	607/1432	P/X	cCg/cg	rs538258593	1		-1	OVOS2	Clone_based_vega_gene		protein_coding	YES		ENSP00000487815		A0A0J9YW53	UPI0001AE6AF7				14/34		hmmpanther:PTHR11412:SF77,hmmpanther:PTHR11412																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	73	31139215	31139215	G	-	1	0	1	0	1	0	0	0	0	11399	1116	39	0		0	OVOS2	12	31139215	Frame_Shift_Del	DEL	G	C3N-01074_TP	13648	31139215	102136094	320	23757											
ABCD2	0	.	GRCh38	chr12	39586199	39586199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggacattgtgtaggataCgttccagatcttggtctgta	9	14	12	6	1	2	1	0	0	2	1	3	4	3	3	1	3	1	3	1	3	3	6	rs151149571		C3N-01074_TP	C3N-01074_NB	C	C																c.1745G>T	p.Arg582Leu	p.R582L	ENST00000308666	7/10	258	222	36	261	261	0	strelka-varscan-mutect	ABCD2,missense_variant,p.Arg582Leu,ENST00000308666,NM_005164.3;	A	ENST00000308666	Transcript	missense_variant	1881/6238	1745/2223	582/740	R/L	cGt/cTt	rs151149571,COSM468309	1		-1	ABCD2	HGNC	HGNC:66	protein_coding	YES	CCDS8734.1	ENSP00000310688	Q9UBJ2		UPI000004C4C6	NM_005164.3	tolerated(0.28)		7/10		PROSITE_profiles:PS50893,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs151149571	.												A	3	1	73	39586199	39586199	C	A	1	0	0	0	0	1	0	0	0	65	536	19	1		1	ABCD2	12	39586199	Missense_Mutation	SNP	C	C3N-01074_TP	8446984	39586199	93689110	321	23758											
YAF2	0	.	GRCh38	chr12	42160748	42160748	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttttctccttaaagtcTgtaataatgactgtcagatc	10	18	6	7	0	3	2	1	1	2	1	5	2	3	2	1	0	0	2	1	0	4	6	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.456A>C	p.=	p.T152T	ENST00000327791	5/5	518	351	167	361	361	0	strelka-varscan-mutect	YAF2,synonymous_variant,p.=,ENST00000327791,NM_001190979.1;YAF2,synonymous_variant,p.=,ENST00000534854,NM_005748.4;YAF2,synonymous_variant,p.=,ENST00000380790,NM_001190977.1;YAF2,downstream_gene_variant,,ENST00000548917,;YAF2,non_coding_transcript_exon_variant,,ENST00000547622,;YAF2,downstream_gene_variant,,ENST00000547724,;YAF2,3_prime_UTR_variant,,ENST00000552109,;YAF2,3_prime_UTR_variant,,ENST00000547351,;YAF2,non_coding_transcript_exon_variant,,ENST00000550315,;YAF2,downstream_gene_variant,,ENST00000551268,;YAF2,downstream_gene_variant,,ENST00000546726,;YAF2,downstream_gene_variant,,ENST00000547254,;YAF2,downstream_gene_variant,,ENST00000552928,;YAF2,downstream_gene_variant,,ENST00000551528,;YAF2,downstream_gene_variant,,ENST00000546972,;YAF2,downstream_gene_variant,,ENST00000548661,;	G	ENST00000327791	Transcript	synonymous_variant	512/4156	456/615	152/204	T	acA/acC		1		-1	YAF2	HGNC	HGNC:17363	protein_coding	YES	CCDS53779.1	ENSP00000328004	Q8IY57		UPI00000742C8	NM_001190979.1			5/5		hmmpanther:PTHR12920																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	73	42160748	42160748	T	G	1	0	0	0	0	0	0	0	1	18025	1567	55	5		5	YAF2	12	42160748	Silent	SNP	T	C3N-01074_TP	2574549	42160748	91114561	322	23759											
COL2A1	0	.	GRCh38	chr12	47977113	47977113	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatactcacctggattccccGggctccagctggtcctgagg	6	9	12	14	1	1	1	1	1	0	0	4	3	4	2	5	4	2	2	5	4	1	2	rs374036874		C3N-01074_TP	C3N-01074_NB	G	G																c.3316C>A	p.=	p.R1106R	ENST00000380518	47/54	525	346	179	500	500	0	strelka-varscan-mutect	COL2A1,synonymous_variant,p.=,ENST00000380518,NM_001844.4;COL2A1,synonymous_variant,p.=,ENST00000337299,NM_033150.2;COL2A1,non_coding_transcript_exon_variant,,ENST00000493991,;COL2A1,non_coding_transcript_exon_variant,,ENST00000546974,;COL2A1,downstream_gene_variant,,ENST00000483376,;	T	ENST00000380518	Transcript	synonymous_variant	3481/5071	3316/4464	1106/1487	R	Cgg/Agg	rs374036874	1		-1	COL2A1	HGNC	HGNC:2200	protein_coding	YES	CCDS41778.1	ENSP00000369889	P02458		UPI0000D79713	NM_001844.4			47/54		hmmpanther:PTHR24023:SF548,hmmpanther:PTHR24023																	LOW	1	SNV	1			1										PASS		rs374036874	.												T	2	4	73	47977113	47977113	G	T	1	0	0	0	0	0	0	0	1	3476	1115	39	1		1	COL2A1	12	47977113	Silent	SNP	G	C3N-01074_TP	5816365	47977113	85298196	323	23760											
NCKAP5L	0	.	GRCh38	chr12	49795796	49795796	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcttttcggtgccaggcctGgctggcaccccattcttctc	3	13	10	15	1	3	0	0	0	3	0	5	0	3	0	4	4	1	2	4	4	0	4	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.2064C>T	p.=	p.A688A	ENST00000335999	8/13	218	172	46	184	184	0	strelka-varscan-mutect	NCKAP5L,synonymous_variant,p.=,ENST00000335999,NM_001037806.3;NCKAP5L,synonymous_variant,p.=,ENST00000433948,;	A	ENST00000335999	Transcript	synonymous_variant	2266/4900	2064/4005	688/1334	A	gcC/gcT		1		-1	NCKAP5L	HGNC	HGNC:29321	protein_coding	YES	CCDS41781.2	ENSP00000337998	Q9HCH0		UPI00006C1298	NM_001037806.3			8/13		hmmpanther:PTHR21740																	LOW	1	SNV	5			1										PASS		rs1370955489	.												A	2	1	73	49795796	49795796	G	A	1	0	0	0	0	0	0	0	1	10242	1335	47	3		3	NCKAP5L	12	49795796	Silent	SNP	G	C3N-01074_TP	1818683	49795796	83479513	324	23761											
FAM186A	0	.	GRCh38	chr12	50355080	50355080	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atactgagtggctccactagGcttctaatttcacctttgcc	8	14	7	12	0	2	1	1	1	1	0	3	1	3	1	3	2	2	2	3	2	3	6	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1752C>G	p.Ser584Arg	p.S584R	ENST00000327337	4/8	383	331	52	374	374	0	strelka-varscan-mutect	FAM186A,missense_variant,p.Ser584Arg,ENST00000543111,;FAM186A,missense_variant,p.Ser584Arg,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,;	C	ENST00000327337	Transcript	missense_variant	1752/7127	1752/7056	584/2351	S/R	agC/agG		1		-1	FAM186A	HGNC	HGNC:26980	protein_coding	YES	CCDS44878.1	ENSP00000329995	A6NE01		UPI00001D7978	NM_001145475.1	tolerated(0.25)		4/8		hmmpanther:PTHR33590,hmmpanther:PTHR33590:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	73	50355080	50355080	G	C	1	0	0	0	0	1	0	0	0	5361	1194	42	4		4	FAM186A	12	50355080	Missense_Mutation	SNP	G	C3N-01074_TP	559284	50355080	82920229	325	23762											
ANKRD33	0	.	GRCh38	chr12	51890803	51890803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccccttcactcctagaacGgctgcaggctaccttgagcc	7	9	9	16	1	1	2	1	1	0	1	2	2	2	2	5	2	5	3	5	2	3	4	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.857G>T	p.Arg286Leu	p.R286L	ENST00000301190	5/5	193	157	36	207	207	0	strelka-varscan-mutect	ANKRD33,missense_variant,p.Arg286Leu,ENST00000301190,NM_182608.3;ANKRD33,missense_variant,p.Arg161Leu,ENST00000340970,NM_001130015.1;ANKRD33,non_coding_transcript_exon_variant,,ENST00000547119,;ANKRD33,downstream_gene_variant,,ENST00000549316,;ANKRD33,3_prime_UTR_variant,,ENST00000549751,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548526,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548383,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000550652,;	T	ENST00000301190	Transcript	missense_variant	1084/1935	857/1359	286/452	R/L	cGg/cTg		1		1	ANKRD33	HGNC	HGNC:13788	protein_coding	YES	CCDS8815.1	ENSP00000301190	Q7Z3H0		UPI00003668C0	NM_182608.3	tolerated(0.3)		5/5		hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF29																	MODERATE	1	SNV	2			1										PASS		rs1195613220	.												T	3	4	73	51890803	51890803	G	T	1	0	0	0	0	1	0	0	0	765	1116	39	1		1	ANKRD33	12	51890803	Missense_Mutation	SNP	G	C3N-01074_TP	1535723	51890803	81384506	326	23763											
KRT71	0	.	GRCh38	chr12	52546402	52546402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgccagctcctccttggcCtggtgcagggcgccctccag	3	7	13	18	3	0	0	0	0	0	0	3	0	3	0	6	3	2	2	6	3	0	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1209G>C	p.Gln403His	p.Q403H	ENST00000267119	7/9	347	227	120	306	306	0	strelka-varscan-mutect	KRT71,missense_variant,p.Gln403His,ENST00000267119,NM_033448.2;	G	ENST00000267119	Transcript	missense_variant	1279/2265	1209/1572	403/523	Q/H	caG/caC		1		-1	KRT71	HGNC	HGNC:28927	protein_coding	YES	CCDS8831.1	ENSP00000267119	Q3SY84		UPI0000052B57	NM_033448.2	deleterious(0.02)		7/9		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF116,SMART_domains:SM01391,Superfamily_domains:SSF64593																	MODERATE	1	SNV	1			1										PASS		rs757049898	.												G	3	3	73	52546402	52546402	C	G	1	0	0	0	0	1	0	0	0	8366	680	24	4		4	KRT71	12	52546402	Missense_Mutation	SNP	C	C3N-01074_TP	655599	52546402	80728907	327	23764											
TESPA1	0	.	GRCh38	chr12	54962566	54962566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcccatgagattcttCtggaagaggctctttcttgc	6	15	9	11	0	4	2	0	1	4	2	5	4	5	3	2	2	2	1	2	2	1	5	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1332G>T	p.Gln444His	p.Q444H	ENST00000449076	9/11	353	304	49	418	418	0	strelka-varscan-mutect	TESPA1,missense_variant,p.Gln306His,ENST00000524622,NM_001261844.1,NM_014796.2;TESPA1,missense_variant,p.Gln444His,ENST00000449076,NM_001136030.2;TESPA1,missense_variant,p.Gln306His,ENST00000532804,;TESPA1,missense_variant,p.Gln444His,ENST00000316577,NM_001098815.2;TESPA1,missense_variant,p.Gln306His,ENST00000531122,;TESPA1,missense_variant,p.Gln44His,ENST00000528240,;TESPA1,intron_variant,,ENST00000532757,;TESPA1,downstream_gene_variant,,ENST00000526532,;TESPA1,downstream_gene_variant,,ENST00000533446,;TESPA1,downstream_gene_variant,,ENST00000524959,;TESPA1,3_prime_UTR_variant,,ENST00000524923,;TESPA1,downstream_gene_variant,,ENST00000525978,;	A	ENST00000449076	Transcript	missense_variant	1465/2010	1332/1566	444/521	Q/H	caG/caT		1		-1	TESPA1	HGNC	HGNC:29109	protein_coding	YES	CCDS44913.1	ENSP00000400892	A2RU30	A0A024RB73	UPI00001FC438	NM_001136030.2	tolerated_low_confidence(0.07)		9/11		hmmpanther:PTHR17469																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	73	54962566	54962566	C	A	1	0	0	0	0	1	0	0	0	16189	912	32	2		2	TESPA1	12	54962566	Missense_Mutation	SNP	C	C3N-01074_TP	2416164	54962566	78312743	328	23765											
OR6C75	0	.	GRCh38	chr12	55365952	55365952	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaatacctcagtggctcCtctcttgaatcccttcatat	8	14	5	14	0	4	1	3	1	1	0	7	1	6	1	3	1	1	2	3	1	4	4	rs570110426		C3N-01074_TP	C3N-01074_NB	C	C																c.842C>G	p.Pro281Arg	p.P281R	ENST00000343399	1/1	219	136	83	212	212	0	strelka-varscan-mutect	OR6C75,missense_variant,p.Pro281Arg,ENST00000343399,NM_001005497.1;	G	ENST00000343399	Transcript	missense_variant	842/939	842/939	281/312	P/R	cCt/cGt	rs570110426	1		1	OR6C75	HGNC	HGNC:31304	protein_coding	YES	CCDS31820.1	ENSP00000368987	A6NL08	A0A126GW92	UPI000023786C	NM_001005497.1	deleterious_low_confidence(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs570110426	.												G	3	3	73	55365952	55365952	C	G	1	0	0	0	0	1	0	0	0	11267	681	24	4		4	OR6C75	12	55365952	Missense_Mutation	SNP	C	C3N-01074_TP	403386	55365952	77909357	329	23766											
RBMS2	0	.	GRCh38	chr12	56571804	56571804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttggccaggttatctccaCccgtatccttcgagatacca	8	12	7	14	2	1	1	0	0	1	1	4	2	2	1	5	2	1	2	5	2	3	5	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.491C>G	p.Thr164Ser	p.T164S	ENST00000262031	5/14	50	45	5	44	44	0	varscan-mutect	RBMS2,missense_variant,p.Thr164Ser,ENST00000262031,NM_002898.3;RBMS2,missense_variant,p.Thr164Ser,ENST00000552247,;RBMS2,missense_variant,p.Thr39Ser,ENST00000550726,;RBMS2,intron_variant,,ENST00000542360,;RBMS2,non_coding_transcript_exon_variant,,ENST00000552228,;RBMS2,downstream_gene_variant,,ENST00000549945,;RBMS2,3_prime_UTR_variant,,ENST00000552916,;RBMS2,downstream_gene_variant,,ENST00000551369,;	G	ENST00000262031	Transcript	missense_variant	586/8382	491/1224	164/407	T/S	aCc/aGc		1		1	RBMS2	HGNC	HGNC:9909	protein_coding	YES	CCDS8923.1	ENSP00000262031	Q15434		UPI000006EEB0	NM_002898.3	deleterious(0.04)		5/14		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF429,hmmpanther:PTHR24012,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	73	56571804	56571804	C	G	1	0	0	0	0	1	0	0	0	13315	507	18	4		4	RBMS2	12	56571804	Missense_Mutation	SNP	C	C3N-01074_TP	1205852	56571804	76703505	330	23767											
NAV3	0	.	GRCh38	chr12	78118171	78118171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctggacttcctgaagacCccgagaaggcagggcagaaa	12	5	12	12	1	1	4	0	1	1	3	2	6	2	5	4	3	0	2	4	3	3	1	rs766000550		C3N-01074_TP	C3N-01074_NB	C	C																c.2914C>A	p.Pro972Thr	p.P972T	ENST00000397909	14/40	375	322	53	292	292	0	strelka-varscan-mutect	NAV3,missense_variant,p.Pro972Thr,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Pro972Thr,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Pro44Thr,ENST00000552895,;NAV3,upstream_gene_variant,,ENST00000550788,;	A	ENST00000397909	Transcript	missense_variant	3087/9821	2914/7158	972/2385	P/T	Ccc/Acc	rs766000550	1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	tolerated(0.13)		14/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	MODERATE	1	SNV	1			1										PASS		rs766000550	.												A	3	1	73	78118171	78118171	C	A	1	0	0	0	0	1	0	0	0	10194	623	22	2		2	NAV3	12	78118171	Missense_Mutation	SNP	C	C3N-01074_TP	21546367	78118171	55157138	331	23768											
CEP290	0	.	GRCh38	chr12	88080391	88080391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcttcatggttttcttGaagcctgatgtaaataaaca	12	16	6	7	0	4	2	2	2	2	0	4	2	4	2	1	1	2	2	1	1	5	7	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.5017C>A	p.Gln1673Lys	p.Q1673K	ENST00000552810	38/54	121	77	44	154	154	0	strelka-varscan-mutect	CEP290,missense_variant,p.Gln1673Lys,ENST00000552810,NM_025114.3;CEP290,missense_variant,p.Gln1675Lys,ENST00000309041,;CEP290,missense_variant,p.Gln733Lys,ENST00000547691,;	T	ENST00000552810	Transcript	missense_variant	5361/7948	5017/7440	1673/2479	Q/K	Caa/Aaa		1		-1	CEP290	HGNC	HGNC:29021	protein_coding	YES	CCDS55858.1	ENSP00000448012	O15078		UPI0000D60D15	NM_025114.3	tolerated(0.11)		38/54		hmmpanther:PTHR18879:SF20,hmmpanther:PTHR18879,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	88080391	88080391	G	T	1	0	0	0	0	1	0	0	0	2969	1304	45	2		2	CEP290	12	88080391	Missense_Mutation	SNP	G	C3N-01074_TP	9962220	88080391	45194918	332	23769											
CCER1	0	.	GRCh38	chr12	90954712	90954712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accgccgcccaggttcagagGgtcttcccttgtgtcgaggg	5	9	14	13	3	2	1	1	0	1	1	4	2	3	1	4	3	0	1	4	3	0	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.31C>A	p.Pro11Thr	p.P11T	ENST00000358859	1/1	142	109	33	104	103	1	strelka-varscan-mutect	CCER1,missense_variant,p.Pro11Thr,ENST00000358859,NM_152638.3;CCER1,intron_variant,,ENST00000548187,;CCER1,upstream_gene_variant,,ENST00000549707,;	T	ENST00000358859	Transcript	missense_variant	465/2962	31/1221	11/406	P/T	Cct/Act		1		-1	CCER1	HGNC	HGNC:28373	protein_coding	YES	CCDS9036.1	ENSP00000351727	Q8TC90		UPI000006EE70	NM_152638.3	deleterious(0)		1/1		hmmpanther:PTHR37337:SF1,hmmpanther:PTHR37337,Pfam_domain:PF15482																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	73	90954712	90954712	G	T	1	0	0	0	0	1	0	0	0	2574	1232	43	2		2	CCER1	12	90954712	Missense_Mutation	SNP	G	C3N-01074_TP	2874321	90954712	42320597	333	23770											
HCFC2	0	.	GRCh38	chr12	104087984	104087984	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacctttctcattccttcAggagtcaggatggaccctca	9	12	8	12	0	4	1	4	1	1	0	6	4	5	4	3	3	1	0	3	3	1	3	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.1232-2A>T		p.X411_splice	ENST00000229330		253	183	70	187	187	0	strelka-varscan-mutect	HCFC2,splice_acceptor_variant,,ENST00000229330,NM_013320.2;HCFC2,upstream_gene_variant,,ENST00000550335,;HCFC2,intron_variant,,ENST00000544223,;	T	ENST00000229330	Transcript	splice_acceptor_variant	-/5734	1232/2379	411/792				1		1	HCFC2	HGNC	HGNC:24972	protein_coding	YES	CCDS9097.1	ENSP00000229330	Q9Y5Z7		UPI000006CF31	NM_013320.2				8/14																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	73	104087984	104087984	A	T	1	0	0	0	0	0	0	1	0	6881	202	7	4		4	HCFC2	12	104087984	Splice_Site	SNP	A	C3N-01074_TP	13133272	104087984	29187325	334	23771											
CUX2	0	.	GRCh38	chr12	111348207	111348207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggagccttgcaccccaGtgccaaggtgaaccccaact	9	6	11	15	0	0	1	0	1	0	0	0	2	0	2	6	3	5	2	6	3	3	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.4343G>T	p.Ser1448Ile	p.S1448I	ENST00000261726	22/22	387	277	110	272	271	1	strelka-varscan-mutect	CUX2,missense_variant,p.Ser1448Ile,ENST00000261726,NM_015267.3;	T	ENST00000261726	Transcript	missense_variant	4497/6844	4343/4461	1448/1486	S/I	aGt/aTt		1		1	CUX2	HGNC	HGNC:19347	protein_coding	YES	CCDS41837.1	ENSP00000261726	O14529		UPI00001FBB07	NM_015267.3	deleterious_low_confidence(0)		22/22		hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	111348207	111348207	G	T	1	0	0	0	0	1	0	0	0	3875	1029	36	2		2	CUX2	12	111348207	Missense_Mutation	SNP	G	C3N-01074_TP	7260223	111348207	21927102	335	23772											
OAS1	0	.	GRCh38	chr12	112919632	112919632	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgggactcttgatccAgagaggacaaagctcctcag	11	8	12	10	0	3	2	2	1	1	1	5	5	5	4	2	3	1	1	2	3	1	1	rs754565362		C3N-01074_TP	C3N-01074_NB	A	A																c.1184A>T	p.Gln395Leu	p.Q395L	ENST00000445409	6/6	220	153	67	182	182	0	strelka-varscan-mutect	OAS1,missense_variant,p.Gln395Leu,ENST00000445409,NM_001032409.1;OAS1,3_prime_UTR_variant,,ENST00000202917,NM_016816.2;OAS1,intron_variant,,ENST00000551241,;OAS1,intron_variant,,ENST00000552526,;OAS1,downstream_gene_variant,,ENST00000452357,NM_002534.2;OAS1,downstream_gene_variant,,ENST00000550689,;OAS1,downstream_gene_variant,,ENST00000553152,;OAS1,downstream_gene_variant,,ENST00000550883,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS1,intron_variant,,ENST00000540589,;OAS1,downstream_gene_variant,,ENST00000549820,;	T	ENST00000445409	Transcript	missense_variant	1441/1684	1184/1245	395/414	Q/L	cAg/cTg	rs754565362	1		1	OAS1	HGNC	HGNC:8086	protein_coding	YES	CCDS31905.1	ENSP00000388001	P00973		UPI00005B2E03	NM_001032409.1	deleterious_low_confidence(0)		6/6																			MODERATE	1	SNV	1			1										PASS		rs754565362	.												T	3	4	73	112919632	112919632	A	T	1	0	0	0	0	1	0	0	0	10878	188	7	4		4	OAS1	12	112919632	Missense_Mutation	SNP	A	C3N-01074_TP	1571425	112919632	20355677	336	23773											
ORAI1	0	.	GRCh38	chr12	121627037	121627037	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccggacctcggctctgctctCcggcttcgccatggtgagct	3	10	12	16	4	2	1	0	1	2	0	5	2	2	2	4	4	2	4	4	4	0	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.101C>G	p.Ser34Cys	p.S34C	ENST00000617316	1/2	537	462	75	360	360	0	strelka-varscan-mutect	ORAI1,missense_variant,p.Ser34Cys,ENST00000617316,NM_032790.3;ORAI1,missense_variant,p.Ser34Cys,ENST00000611718,;	G	ENST00000617316	Transcript	missense_variant	488/2138	101/717	34/238	S/C	tCc/tGc		1		1	ORAI1	HGNC	HGNC:25896	protein_coding	YES		ENSP00000482568		A0A0B4J2E8	UPI0000036A44	NM_032790.3	deleterious(0)		1/2		Pfam_domain:PF07856,hmmpanther:PTHR31501,hmmpanther:PTHR31501:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	73	121627037	121627037	C	G	1	0	0	0	0	1	0	0	0	11323	855	30	4		4	ORAI1	12	121627037	Missense_Mutation	SNP	C	C3N-01074_TP	8707405	121627037	11648272	337	23774											
ZCCHC8	0	.	GRCh38	chr12	122481564	122481564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccgaattctccaattcagCctctttgagccaccctggtg	7	11	7	16	1	3	1	1	1	2	0	4	2	3	1	6	1	2	0	6	1	2	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.976G>T	p.Ala326Ser	p.A326S	ENST00000633063	10/14	380	275	105	243	242	1	strelka-varscan-mutect	ZCCHC8,missense_variant,p.Ala88Ser,ENST00000543897,;ZCCHC8,missense_variant,p.Ala326Ser,ENST00000633063,NM_017612.4;ZCCHC8,missense_variant,p.Ala88Ser,ENST00000536306,;ZCCHC8,missense_variant,p.Ala88Ser,ENST00000544054,;ZCCHC8,missense_variant,p.Ala88Ser,ENST00000536663,;ZCCHC8,downstream_gene_variant,,ENST00000540586,;ZCCHC8,non_coding_transcript_exon_variant,,ENST00000546149,;ZCCHC8,upstream_gene_variant,,ENST00000538116,;ZCCHC8,upstream_gene_variant,,ENST00000542892,;ZCCHC8,downstream_gene_variant,,ENST00000538493,;	A	ENST00000633063	Transcript	missense_variant	1209/2955	976/2124	326/707	A/S	Gct/Tct		1		-1	ZCCHC8	HGNC	HGNC:25265	protein_coding	YES		ENSP00000488055	Q6NZY4		UPI00001E0582	NM_017612.4	deleterious(0)		10/14		Pfam_domain:PF04046,hmmpanther:PTHR13316,hmmpanther:PTHR13316:SF0,SMART_domains:SM00581																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	122481564	122481564	C	A	1	0	0	0	0	1	0	0	0	18169	739	26	2		2	ZCCHC8	12	122481564	Missense_Mutation	SNP	C	C3N-01074_TP	854527	122481564	10793745	338	23775											
HIP1R	0	.	GRCh38	chr12	122857141	122857141	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcctggtgcgcgagacaGaggcggcgctgagccgggag	8	3	20	10	5	0	4	0	1	0	3	0	6	0	5	2	4	3	1	2	4	0	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1741G>T	p.Glu581Ter	p.E581*	ENST00000253083	18/32	666	474	192	447	446	1	strelka-varscan-mutect	HIP1R,stop_gained,p.Glu581Ter,ENST00000253083,NM_003959.2;HIP1R,upstream_gene_variant,,ENST00000535012,;HIP1R,upstream_gene_variant,,ENST00000537322,;HIP1R,non_coding_transcript_exon_variant,,ENST00000535831,;HIP1R,non_coding_transcript_exon_variant,,ENST00000452196,;HIP1R,upstream_gene_variant,,ENST00000536617,;HIP1R,downstream_gene_variant,,ENST00000536847,;HIP1R,upstream_gene_variant,,ENST00000538236,;HIP1R,upstream_gene_variant,,ENST00000541712,;HIP1R,downstream_gene_variant,,ENST00000536772,;	T	ENST00000253083	Transcript	stop_gained	1866/4539	1741/3207	581/1068	E/*	Gag/Tag		1		1	HIP1R	HGNC	HGNC:18415	protein_coding	YES	CCDS31922.1	ENSP00000253083	O75146		UPI000012C72C	NM_003959.2			18/32		hmmpanther:PTHR10407,hmmpanther:PTHR10407:SF10																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	73	122857141	122857141	G	T	1	0	0	0	0	0	1	0	0	7003	943	33	2		2	HIP1R	12	122857141	Nonsense_Mutation	SNP	G	C3N-01074_TP	375577	122857141	10418168	339	23776											
TMEM132C	0	.	GRCh38	chr12	128693921	128693921	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcacataccagtacctgagCgcccccctgtgtgtcaccgt	7	10	8	16	2	2	1	2	1	0	0	2	1	2	1	6	0	3	1	6	0	2	3	rs771980544		C3N-01074_TP	C3N-01074_NB	C	C																c.1542C>A	p.Ser514Arg	p.S514R	ENST00000435159	6/9	554	407	147	421	421	0	strelka-varscan-mutect	TMEM132C,missense_variant,p.Ser514Arg,ENST00000435159,NM_001136103.2;	A	ENST00000435159	Transcript	missense_variant	1542/4947	1542/3327	514/1108	S/R	agC/agA	rs771980544	1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2	deleterious(0.01)		6/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4,Pfam_domain:PF16070																	MODERATE	1	SNV	5			1										PASS		rs771980544	.												A	3	1	73	128693921	128693921	C	A	1	0	0	0	0	1	0	0	0	16491	767	27	1		1	TMEM132C	12	128693921	Missense_Mutation	SNP	C	C3N-01074_TP	5836780	128693921	4581388	340	23777											
TMEM132C	0	.	GRCh38	chr12	128705973	128705973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcatagaccgcggacCgggggcctgcgaggagagca	10	3	15	13	4	1	2	1	0	0	2	1	5	1	3	4	4	2	1	4	4	1	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.3005C>A	p.Pro1002Gln	p.P1002Q	ENST00000435159	9/9	267	182	85	232	232	0	strelka-varscan-mutect	TMEM132C,missense_variant,p.Pro1002Gln,ENST00000435159,NM_001136103.2;	A	ENST00000435159	Transcript	missense_variant	3005/4947	3005/3327	1002/1108	P/Q	cCg/cAg		1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2	tolerated(0.58)		9/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4																	MODERATE	1	SNV	5			1										PASS		rs1026852551	.												A	3	1	73	128705973	128705973	C	A	1	0	0	0	0	1	0	0	0	16491	652	23	1		1	TMEM132C	12	128705973	Missense_Mutation	SNP	C	C3N-01074_TP	12052	128705973	4569336	341	23778											
COL4A1	0	.	GRCh38	chr13	110206674	110206674	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcacttactctgggtccTggttttccgggttcaccttt	6	15	9	11	1	2	0	1	0	1	0	4	0	4	0	3	3	2	3	3	3	2	5	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.849A>T	p.=	p.P283P	ENST00000375820	15/52	413	211	202	482	482	0	strelka-varscan-mutect	COL4A1,synonymous_variant,p.=,ENST00000375820,NM_001845.5;COL4A1,synonymous_variant,p.=,ENST00000543140,NM_001303110.1;COL4A1,synonymous_variant,p.=,ENST00000615732,;	A	ENST00000375820	Transcript	synonymous_variant	971/6532	849/5010	283/1669	P	ccA/ccT		1		-1	COL4A1	HGNC	HGNC:2202	protein_coding	YES	CCDS9511.1	ENSP00000364979	P02462		UPI000004981D	NM_001845.5			15/52		Pfam_domain:PF01391,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	73	110206674	110206674	T	A	1	0	0	0	0	0	0	0	1	3478	1567	55	4		4	COL4A1	13	110206674	Silent	SNP	T	C3N-01074_TP		110206674	4157654	342	23779											
POTEG	0	.	GRCh38	chr14	19433881	19433881	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttgtccagatcttctcGacggacgtggtacctcggct	6	11	12	12	4	2	1	0	0	2	1	5	4	3	2	2	3	2	3	2	3	1	3	rs776577612		C3N-01074_TP	C3N-01074_NB	G	G																c.409C>A	p.=	p.R137R	ENST00000547848	1/11	506	439	67	763	763	0	varscan-mutect	POTEG,synonymous_variant,p.=,ENST00000547848,NM_001005356.2;POTEG,synonymous_variant,p.=,ENST00000547722,;POTEG,synonymous_variant,p.=,ENST00000622767,;	T	ENST00000547848	Transcript	synonymous_variant	461/2204	409/1527	137/508	R	Cga/Aga	rs776577612	1		-1	POTEG	HGNC	HGNC:33896	protein_coding	YES	CCDS73610.1	ENSP00000450853	Q6S5H5		UPI00004443FE	NM_001005356.2			1/11		hmmpanther:PTHR24118:SF43,hmmpanther:PTHR24118,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		rs776577612	.												T	2	4	73	19433881	19433881	G	T	1	0	0	0	0	0	0	0	1	12380	1066	37	1		1	POTEG	14	19433881	Silent	SNP	G	C3N-01074_TP		19433881	87609837	343	23780											
OR4Q3	0	.	GRCh38	chr14	19747805	19747805	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctatgacaggtatgttgcCatctgtaaccctttgcgcta	8	13	9	11	1	1	1	0	1	1	0	1	1	1	1	3	1	3	4	3	1	4	6			C3N-01074_TP	C3N-01074_NB	C	C																c.378C>A	p.=	p.A126A	ENST00000331723	1/1	289	215	74	517	517	0	strelka-varscan-mutect	OR4Q3,synonymous_variant,p.=,ENST00000331723,NM_172194.1;OR4N2,intron_variant,,ENST00000557414,;	A	ENST00000331723	Transcript	synonymous_variant	378/942	378/942	126/313	A	gcC/gcA	COSM5691854	1		1	OR4Q3	HGNC	HGNC:15426	protein_coding	YES	CCDS32020.1	ENSP00000330049	Q8NH05	A0A126GW32	UPI0000061EF0	NM_172194.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF208,hmmpanther:PTHR26451,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						LOW	1	SNV			1	1										PASS		.	.												A	2	1	73	19747805	19747805	C	A	1	0	0	0	0	0	0	0	1	11157	581	21	2		2	OR4Q3	14	19747805	Silent	SNP	C	C3N-01074_TP	313924	19747805	87295913	344	23781											
OR4K2	0	.	GRCh38	chr14	19876720	19876720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggcttcctggattatGggagttatgcattcaatgag	8	14	14	5	0	1	1	1	1	0	0	2	3	2	3	1	4	1	3	1	4	3	4	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.453G>T	p.Met151Ile	p.M151I	ENST00000298642	1/1	320	228	92	552	550	2	strelka-varscan-mutect	OR4K2,missense_variant,p.Met151Ile,ENST00000298642,NM_001005501.1;	T	ENST00000298642	Transcript	missense_variant	489/1078	453/945	151/314	M/I	atG/atT		1		1	OR4K2	HGNC	HGNC:14728	protein_coding	YES	CCDS32023.1	ENSP00000298642	Q8NGD2	A0A126GVP5	UPI0000041B4D	NM_001005501.1	tolerated(1)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF260,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	73	19876720	19876720	G	T	1	0	0	0	0	1	0	0	0	11149	1348	47	2		2	OR4K2	14	19876720	Missense_Mutation	SNP	G	C3N-01074_TP	128915	19876720	87166998	345	23782											
MYH6	0	.	GRCh38	chr14	23405680	23405680	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaaaagcaccgcgggctCgtgcaggaaggtcagcatgg	10	6	16	9	3	1	1	1	1	0	0	2	2	1	2	1	4	3	5	1	4	3	1	rs140596256		C3N-01074_TP	C3N-01074_NB	C	C																c.292G>T	p.Glu98Ter	p.E98*	ENST00000405093	4/39	322	190	132	382	381	1	strelka-varscan-mutect	MYH6,stop_gained,p.Glu98Ter,ENST00000405093,NM_002471.3;MYH6,stop_gained,p.Glu98Ter,ENST00000356287,;MYH6,non_coding_transcript_exon_variant,,ENST00000557461,;	A	ENST00000405093	Transcript	stop_gained	363/5941	292/5820	98/1939	E/*	Gag/Tag	rs140596256,COSM3885896	1		-1	MYH6	HGNC	HGNC:7576	protein_coding	YES	CCDS9600.1	ENSP00000386041	P13533		UPI0000160969	NM_002471.3			4/39		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF413,SMART_domains:SM00242,Superfamily_domains:SSF52540										uncertain_significance	0,1						HIGH	1	SNV	5		1,1	1										PASS		rs140596256	.												A	4	1	73	23405680	23405680	C	A	1	0	0	0	0	0	1	0	0	10038	893	31	1		1	MYH6	14	23405680	Nonsense_Mutation	SNP	C	C3N-01074_TP	3528960	23405680	83638038	346	23783											
FOXG1	0	.	GRCh38	chr14	28767933	28767933	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaagaacttcccttactaCcgcgagaacaagcagggctg	13	7	10	11	2	0	3	0	1	0	2	1	4	1	3	2	1	5	2	2	1	6	3			C3N-01074_TP	C3N-01074_NB	C	C																c.654C>G	p.Tyr218Ter	p.Y218*	ENST00000313071	1/1	1212	1129	83	507	507	0	strelka-varscan-mutect	FOXG1,stop_gained,p.Tyr218Ter,ENST00000313071,NM_005249.4;LINC01551,upstream_gene_variant,,ENST00000399387,;LINC01551,upstream_gene_variant,,ENST00000552957,;LINC01551,upstream_gene_variant,,ENST00000548213,;FOXG1-AS1,upstream_gene_variant,,ENST00000551395,;FOXG1-AS1,upstream_gene_variant,,ENST00000546560,;FOXG1-AS1,upstream_gene_variant,,ENST00000549487,;FOXG1,downstream_gene_variant,,ENST00000637817,;FOXG1,downstream_gene_variant,,ENST00000636893,;FOXG1,downstream_gene_variant,,ENST00000636353,;FOXG1,downstream_gene_variant,,ENST00000637220,;FOXG1,downstream_gene_variant,,ENST00000636346,;FOXG1,downstream_gene_variant,,ENST00000636604,;FOXG1,downstream_gene_variant,,ENST00000637351,;	G	ENST00000313071	Transcript	stop_gained	2546/4890	654/1470	218/489	Y/*	taC/taG	COSM5172962	1		1	FOXG1	HGNC	HGNC:3811	protein_coding	YES	CCDS9636.1	ENSP00000339004	P55316		UPI00001AE46C	NM_005249.4			1/1		Gene3D:1.10.10.10,Pfam_domain:PF00250,Prints_domain:PR00053,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF165,SMART_domains:SM00339,Superfamily_domains:SSF46785											1						HIGH		SNV			1	1										PASS		.	.												G	4	3	73	28767933	28767933	C	G	1	0	0	0	0	0	1	0	0	5869	518	18	4		4	FOXG1	14	28767933	Nonsense_Mutation	SNP	C	C3N-01074_TP	5362253	28767933	78275785	347	23784											
PRKD1	0	.	GRCh38	chr14	29597759	29597759	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaatcacaaagtttcacCtgttgatgaaaggatttgca	15	11	7	8	0	2	2	2	2	0	0	2	3	2	3	2	1	1	3	2	1	4	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2167-1G>T		p.X723_splice	ENST00000331968		189	157	32	110	110	0	strelka-varscan-mutect	PRKD1,splice_acceptor_variant,,ENST00000331968,NM_002742.2;PRKD1,splice_acceptor_variant,,ENST00000616995,;PRKD1,splice_acceptor_variant,,ENST00000415220,;PRKD1,upstream_gene_variant,,ENST00000490795,;	A	ENST00000331968	Transcript	splice_acceptor_variant	-/3726	2167/2739	723/912				1		-1	PRKD1	HGNC	HGNC:9407	protein_coding	YES	CCDS9637.1	ENSP00000333568	Q15139		UPI0000456761	NM_002742.2				15/17																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	73	29597759	29597759	C	A	1	0	0	0	0	0	0	1	0	12651	695	24	2		2	PRKD1	14	29597759	Splice_Site	SNP	C	C3N-01074_TP	829826	29597759	77445959	348	23785											
AKAP6	0	.	GRCh38	chr14	32678418	32678418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagcaagcgaaaggaagaGtttgctgatatgtcaaaagt	16	8	12	5	1	1	2	1	1	0	1	1	4	1	3	0	1	4	4	0	1	6	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.2838G>T	p.Glu946Asp	p.E946D	ENST00000280979	8/14	602	244	358	271	270	1	strelka-varscan-mutect	AKAP6,missense_variant,p.Glu946Asp,ENST00000280979,NM_004274.4;AKAP6,missense_variant,p.Glu946Asp,ENST00000557354,;AKAP6,missense_variant,p.Glu946Asp,ENST00000557272,;AKAP6,non_coding_transcript_exon_variant,,ENST00000555207,;AKAP6,non_coding_transcript_exon_variant,,ENST00000555950,;	T	ENST00000280979	Transcript	missense_variant	3008/15006	2838/6960	946/2319	E/D	gaG/gaT		1		1	AKAP6	HGNC	HGNC:376	protein_coding	YES	CCDS9644.1	ENSP00000280979	Q13023		UPI000013DC48	NM_004274.4	tolerated(0.09)		8/14		hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	32678418	32678418	G	T	1	0	0	0	0	1	0	0	0	539	1020	36	2		2	AKAP6	14	32678418	Missense_Mutation	SNP	G	C3N-01074_TP	3080659	32678418	74365300	349	23786											
SEC23A	0	.	GRCh38	chr14	39063329	39063329	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaaagtcatacctgatTgacaacctcaaaatatatgg	16	11	7	7	0	2	3	2	2	0	1	2	3	2	3	2	1	2	1	2	1	8	5	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.1393A>T	p.Asn465Tyr	p.N465Y	ENST00000307712	12/20	534	322	212	341	341	0	strelka-varscan-mutect	SEC23A,missense_variant,p.Asn263Tyr,ENST00000537403,;SEC23A,missense_variant,p.Asn465Tyr,ENST00000307712,NM_006364.2;SEC23A,missense_variant,p.Asn436Tyr,ENST00000545328,;SEC23A,downstream_gene_variant,,ENST00000553925,;	A	ENST00000307712	Transcript	missense_variant	1911/4135	1393/2298	465/765	N/Y	Aat/Tat		1		-1	SEC23A	HGNC	HGNC:10701	protein_coding	YES	CCDS9668.1	ENSP00000306881	Q15436		UPI000013EC46	NM_006364.2	deleterious(0)		12/20		Gene3D:2nutA01,Pfam_domain:PF08033,hmmpanther:PTHR11141,hmmpanther:PTHR11141:SF7,Superfamily_domains:SSF81995																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	39063329	39063329	T	A	1	0	0	0	0	1	0	0	0	14268	1826	63	4		4	SEC23A	14	39063329	Missense_Mutation	SNP	T	C3N-01074_TP	6384911	39063329	67980389	350	23787											
FSCB	0	.	GRCh38	chr14	44505315	44505315	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgatggagactgaactTcagcaggagcctcttctgca	10	10	11	10	0	3	3	1	2	2	1	3	5	3	4	1	2	5	3	1	2	2	3			C3N-01074_TP	C3N-01074_NB	T	T																c.1673A>T	p.Glu558Val	p.E558V	ENST00000340446	1/1	403	342	61	275	275	0	strelka-varscan-mutect	FSCB,missense_variant,p.Glu558Val,ENST00000340446,NM_032135.3;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	A	ENST00000340446	Transcript	missense_variant	1965/2938	1673/2478	558/825	E/V	gAa/gTa	COSM4245936	1		-1	FSCB	HGNC	HGNC:20494	protein_coding	YES	CCDS9679.1	ENSP00000344579	Q5H9T9		UPI00001FD466	NM_032135.3	tolerated(0.12)		1/1		hmmpanther:PTHR36135,Low_complexity_(Seg):seg											1						MODERATE		SNV			1	1										PASS		.	.												A	3	1	73	44505315	44505315	T	A	1	0	0	0	0	1	0	0	0	5939	1783	62	4		4	FSCB	14	44505315	Missense_Mutation	SNP	T	C3N-01074_TP	5441986	44505315	62538403	351	23788											
FRMD6	0	.	GRCh38	chr14	51725837	51725837	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagaaacagttgttaaGcttcgtggccagagtactga	11	12	10	8	1	2	3	1	1	1	2	3	3	2	3	1	1	3	4	1	1	3	5	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1551G>C	p.Lys517Asn	p.K517N	ENST00000344768	13/14	823	732	91	311	311	0	strelka-varscan-mutect	FRMD6,missense_variant,p.Lys509Asn,ENST00000395718,NM_152330.3;FRMD6,missense_variant,p.Lys509Asn,ENST00000356218,NM_001042481.2;FRMD6,missense_variant,p.Lys440Asn,ENST00000554167,;FRMD6,missense_variant,p.Lys517Asn,ENST00000344768,NM_001267046.1;FRMD6,missense_variant,p.Lys159Asn,ENST00000553556,NM_001267047.1;FRMD6,downstream_gene_variant,,ENST00000555703,;RNU6-301P,downstream_gene_variant,,ENST00000384277,;FRMD6,non_coding_transcript_exon_variant,,ENST00000557522,;	C	ENST00000344768	Transcript	missense_variant	1747/2972	1551/1869	517/622	K/N	aaG/aaC		1		1	FRMD6	HGNC	HGNC:19839	protein_coding	YES	CCDS58318.1	ENSP00000343899	Q96NE9		UPI00000473F6	NM_001267046.1	deleterious(0)		13/14		hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF9																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	73	51725837	51725837	G	C	1	0	0	0	0	1	0	0	0	5924	962	34	4		4	FRMD6	14	51725837	Missense_Mutation	SNP	G	C3N-01074_TP	7220522	51725837	55317881	352	23789											
IFT43	0	.	GRCh38	chr14	76058757	76058757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggtcatgatctgttcCacctatgttgaacactgtgt	7	16	10	8	0	2	2	1	2	1	0	3	2	3	2	2	2	1	2	2	2	2	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.331C>T	p.His111Tyr	p.H111Y	ENST00000556742	4/4	211	112	99	280	279	1	strelka-varscan-mutect	IFT43,missense_variant,p.His111Tyr,ENST00000556742,NM_001255995.1;IFT43,intron_variant,,ENST00000314067,NM_001102564.1;IFT43,intron_variant,,ENST00000238628,NM_052873.2;IFT43,intron_variant,,ENST00000553438,;IFT43,intron_variant,,ENST00000555305,;IFT43,intron_variant,,ENST00000554026,;IFT43,intron_variant,,ENST00000542766,;IFT43,intron_variant,,ENST00000554233,;IFT43,intron_variant,,ENST00000554423,;IFT43,intron_variant,,ENST00000555370,;	T	ENST00000556742	Transcript	missense_variant	334/848	331/342	111/113	H/Y	Cac/Tac		1		1	IFT43	HGNC	HGNC:29669	protein_coding		CCDS58330.1	ENSP00000451096	Q96FT9		UPI00001FD8DE	NM_001255995.1	deleterious_low_confidence(0)		4/4																			MODERATE		SNV	2			1										PASS		.	.												T	3	4	73	76058757	76058757	C	T	1	0	0	0	0	1	0	0	0	7465	594	21	3		3	IFT43	14	76058757	Missense_Mutation	SNP	C	C3N-01074_TP	24332920	76058757	30984961	353	23790											
MARK3	0	.	GRCh38	chr14	103458764	103458764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gactattaaagttcaagtctCctttgatttgcttagtctga	10	17	7	7	0	3	2	1	2	2	0	4	3	3	2	1	0	1	2	1	0	5	6	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.521C>T	p.Ser174Phe	p.S174F	ENST00000416682	7/17	148	99	49	201	201	0	strelka-varscan-mutect	MARK3,missense_variant,p.Ser174Phe,ENST00000416682,;MARK3,missense_variant,p.Ser174Phe,ENST00000335102,;MARK3,intron_variant,,ENST00000429436,NM_001128918.2;MARK3,intron_variant,,ENST00000303622,NM_002376.6;MARK3,intron_variant,,ENST00000216288,NM_001128920.2;MARK3,intron_variant,,ENST00000440884,NM_001128921.2;MARK3,intron_variant,,ENST00000553942,NM_001128919.2;MARK3,intron_variant,,ENST00000560417,;MARK3,non_coding_transcript_exon_variant,,ENST00000559268,;MARK3,intron_variant,,ENST00000561071,;MARK3,intron_variant,,ENST00000561164,;MARK3,intron_variant,,ENST00000558698,;MARK3,downstream_gene_variant,,ENST00000560731,;MARK3,intron_variant,,ENST00000558223,;	T	ENST00000416682	Transcript	missense_variant	1098/2969	521/2259	174/752	S/F	tCc/tTc		1		1	MARK3	HGNC	HGNC:6897	protein_coding			ENSP00000408092		A0A0A0MSZ1	UPI000002AE4D		tolerated_low_confidence(0.71)		7/17		PROSITE_profiles:PS50011,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	73	103458764	103458764	C	T	1	0	0	0	0	1	0	0	0	9239	855	30	3		3	MARK3	14	103458764	Missense_Mutation	SNP	C	C3N-01074_TP	27400007	103458764	3584954	354	23791											
UBE3A	0	.	GRCh38	chr15	25360405	25360405	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctggattgaagatttcCtccacaaccagctgaaaaaa	16	10	6	9	0	1	3	0	2	1	1	3	4	3	4	3	1	2	1	3	1	6	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1740G>A	p.=	p.E580E	ENST00000397954	8/14	415	307	108	475	475	0	strelka-varscan-mutect	UBE3A,synonymous_variant,p.=,ENST00000635914,;UBE3A,synonymous_variant,p.=,ENST00000638155,;UBE3A,synonymous_variant,p.=,ENST00000438097,;UBE3A,synonymous_variant,p.=,ENST00000638011,;UBE3A,synonymous_variant,p.=,ENST00000614096,NM_130839.2;UBE3A,synonymous_variant,p.=,ENST00000637886,;UBE3A,synonymous_variant,p.=,ENST00000630424,;UBE3A,synonymous_variant,p.=,ENST00000232165,NM_130838.1;UBE3A,synonymous_variant,p.=,ENST00000625778,;UBE3A,synonymous_variant,p.=,ENST00000566215,;UBE3A,synonymous_variant,p.=,ENST00000428984,;UBE3A,synonymous_variant,p.=,ENST00000397954,NM_000462.3;UBE3A,upstream_gene_variant,,ENST00000604860,;UBE3A,upstream_gene_variant,,ENST00000626176,;SNHG14,intron_variant,,ENST00000453082,;SNHG14,intron_variant,,ENST00000554726,;UBE3A,upstream_gene_variant,,ENST00000631247,;	T	ENST00000397954	Transcript	synonymous_variant	1985/2873	1740/2628	580/875	E	gaG/gaA		1		-1	UBE3A	HGNC	HGNC:12496	protein_coding	YES	CCDS45192.1	ENSP00000381045	Q05086		UPI0000161F3B	NM_000462.3			8/14		PROSITE_profiles:PS50237,hmmpanther:PTHR11254,PIRSF_domain:PIRSF037201,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	73	25360405	25360405	C	T	1	0	0	0	0	0	0	0	1	17402	680	24	3		3	UBE3A	15	25360405	Silent	SNP	C	C3N-01074_TP		25360405	76630784	355	23792											
GABRB3	0	.	GRCh38	chr15	26583354	26583354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcaatttccagagtgcaGttctgctcgtccagggggta	7	13	11	10	1	2	1	1	0	1	1	5	1	4	1	2	2	2	4	2	2	2	4	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.522C>A	p.Asn174Lys	p.N174K	ENST00000311550	5/9	609	510	99	580	579	1	strelka-varscan-mutect	GABRB3,missense_variant,p.Asn230Lys,ENST00000541819,;GABRB3,missense_variant,p.Asn89Lys,ENST00000622697,NM_001278631.1;GABRB3,missense_variant,p.Asn174Lys,ENST00000311550,NM_000814.5;GABRB3,missense_variant,p.Asn89Lys,ENST00000628124,NM_001191320.1;GABRB3,missense_variant,p.Asn89Lys,ENST00000636466,;GABRB3,missense_variant,p.Asn174Lys,ENST00000299267,NM_021912.4;GABRB3,missense_variant,p.Asn141Lys,ENST00000638099,;GABRB3,missense_variant,p.Asn103Lys,ENST00000400188,NM_001191321.2;GABRB3,missense_variant,p.Asn89Lys,ENST00000545868,;GABRB3,non_coding_transcript_exon_variant,,ENST00000635832,;GABRB3,non_coding_transcript_exon_variant,,ENST00000555094,;GABRB3,non_coding_transcript_exon_variant,,ENST00000636512,;GABRB3,missense_variant,p.Asn69Lys,ENST00000635994,;GABRB3,missense_variant,p.Leu101Met,ENST00000554556,;GABRB3,3_prime_UTR_variant,,ENST00000555632,;GABRB3,upstream_gene_variant,,ENST00000557765,;	T	ENST00000311550	Transcript	missense_variant	634/5781	522/1422	174/473	N/K	aaC/aaA		1		-1	GABRB3	HGNC	HGNC:4083	protein_coding	YES	CCDS10019.1	ENSP00000308725	P28472		UPI000012AFB0	NM_000814.5	deleterious(0.01)		5/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF571,PROSITE_patterns:PS00236,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR00252																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	26583354	26583354	G	T	1	0	0	0	0	1	0	0	0	6039	1020	36	2		2	GABRB3	15	26583354	Missense_Mutation	SNP	G	C3N-01074_TP	1222949	26583354	75407835	356	23793											
GABRG3	0	.	GRCh38	chr15	27527469	27527469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccatgaccaccctgagcaCcatcgccaggaagtccttgc	10	6	9	16	1	0	2	0	2	0	0	2	4	1	3	6	1	2	1	6	1	1	1			C3N-01074_TP	C3N-01074_NB	C	C																c.902C>G	p.Thr301Ser	p.T301S	ENST00000615808	8/10	119	97	22	142	142	0	strelka-varscan-mutect	GABRG3,missense_variant,p.Thr301Ser,ENST00000615808,NM_033223.4;GABRG3,missense_variant,p.Thr122Ser,ENST00000333743,;GABRG3,missense_variant,p.Thr243Ser,ENST00000554696,;GABRG3,missense_variant,p.Thr64Ser,ENST00000451330,;RP11-100M12.3,intron_variant,,ENST00000556642,;	G	ENST00000615808	Transcript	missense_variant	1156/10768	902/1404	301/467	T/S	aCc/aGc	COSM960062	1		1	GABRG3	HGNC	HGNC:4088	protein_coding	YES	CCDS45195.1	ENSP00000479113	Q99928		UPI000012AFCB	NM_033223.4	tolerated(0.12)		8/10		Gene3D:1.20.58.390,Pfam_domain:PF02932,Prints_domain:PR00253,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF195,Low_complexity_(Seg):seg,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	73	27527469	27527469	C	G	1	0	0	0	0	1	0	0	0	6044	507	18	4		4	GABRG3	15	27527469	Missense_Mutation	SNP	C	C3N-01074_TP	944115	27527469	74463720	357	23794											
APBA2	0	.	GRCh38	chr15	29054455	29054455	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactactgtgccagcaaaGagggctaccaggactactac	12	7	10	12	0	1	1	1	0	0	1	1	2	1	2	2	2	6	2	2	2	5	4	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.571G>T	p.Glu191Ter	p.E191*	ENST00000558402	5/16	734	628	106	724	720	4	strelka-varscan-mutect	APBA2,stop_gained,p.Glu191Ter,ENST00000558402,;APBA2,stop_gained,p.Glu191Ter,ENST00000558259,NM_005503.3;APBA2,stop_gained,p.Glu191Ter,ENST00000411764,NM_001130414.1;APBA2,stop_gained,p.Glu191Ter,ENST00000558330,;APBA2,stop_gained,p.Glu191Ter,ENST00000561069,;APBA2,stop_gained,p.Glu191Ter,ENST00000558358,;APBA2,downstream_gene_variant,,ENST00000560283,;APBA2,downstream_gene_variant,,ENST00000559709,;APBA2,downstream_gene_variant,,ENST00000558206,;APBA2,downstream_gene_variant,,ENST00000558804,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;	T	ENST00000558402	Transcript	stop_gained	1170/4031	571/2250	191/749	E/*	Gag/Tag		1		1	APBA2	HGNC	HGNC:579	protein_coding	YES	CCDS10022.1	ENSP00000453293	Q99767		UPI0000046798				5/16		hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	73	29054455	29054455	G	T	1	0	0	0	0	0	1	0	0	877	943	33	2		2	APBA2	15	29054455	Nonsense_Mutation	SNP	G	C3N-01074_TP	1526986	29054455	72936734	358	23795											
OTUD7A	0	.	GRCh38	chr15	31483629	31483629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttgacggtgcgcagggCggcggcgcgcgccgggctgt	2	6	21	12	9	0	1	0	1	0	0	0	1	0	1	1	5	1	3	1	5	0	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2446G>T	p.Ala816Ser	p.A816S	ENST00000307050	11/11	32	20	12	32	32	0	strelka-varscan-mutect	OTUD7A,missense_variant,p.Ala816Ser,ENST00000307050,NM_130901.1;	A	ENST00000307050	Transcript	missense_variant	2539/10770	2446/2781	816/926	A/S	Gcc/Tcc		1		-1	OTUD7A	HGNC	HGNC:20718	protein_coding	YES	CCDS10026.1	ENSP00000305926	Q8TE49		UPI0000073AA5	NM_130901.1	tolerated_low_confidence(0.5)		11/11		hmmpanther:PTHR13367:SF9,hmmpanther:PTHR13367																	MODERATE	1	SNV	1			1										PASS		rs1408480931	.												A	3	1	73	31483629	31483629	C	A	1	0	0	0	0	1	0	0	0	11387	768	27	1		1	OTUD7A	15	31483629	Missense_Mutation	SNP	C	C3N-01074_TP	2429174	31483629	70507560	359	23796											
GOLGA8O	0	.	GRCh38	chr15	32446528	32446528	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcatgggccgaggtgcCtcctccccctcactgtccag	4	8	11	18	2	1	0	1	0	0	0	5	1	4	0	6	3	1	1	6	3	0	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1314G>A	p.=	p.E438E	ENST00000509311	15/19	465	425	40	459	459	0	varscan-mutect	GOLGA8O,synonymous_variant,p.=,ENST00000509311,NM_001277308.1;GOLGA8O,downstream_gene_variant,,ENST00000562377,;RN7SL539P,downstream_gene_variant,,ENST00000610974,;	T	ENST00000509311	Transcript	synonymous_variant	1412/1997	1314/1899	438/632	E	gaG/gaA		1		-1	GOLGA8O	HGNC	HGNC:44406	protein_coding	YES	CCDS59252.1	ENSP00000423159	A6NCC3		UPI0000DD8295	NM_001277308.1			15/19		hmmpanther:PTHR10881:SF48,hmmpanther:PTHR10881,Pfam_domain:PF15070																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	73	32446528	32446528	C	T	1	0	0	0	0	0	0	0	1	6455	680	24	3		3	GOLGA8O	15	32446528	Silent	SNP	C	C3N-01074_TP	962899	32446528	69544661	360	23797											
GOLGA8A	0	.	GRCh38	chr15	34386697	34386697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggactgctgcttgttcttgGcacgggctctgacgcgcatg	5	11	14	11	3	2	1	0	1	2	0	2	2	2	2	0	3	2	6	0	3	0	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.213C>T	p.=	p.C71C	ENST00000359187	3/16	245	232	13	255	255	0	varscan-mutect	GOLGA8A,synonymous_variant,p.=,ENST00000432566,;GOLGA8A,synonymous_variant,p.=,ENST00000359187,NM_181077.3;MIR1233-1,upstream_gene_variant,,ENST00000408722,;GOLGA8A,non_coding_transcript_exon_variant,,ENST00000473125,;	A	ENST00000359187	Transcript	synonymous_variant	278/1877	213/1812	71/603	C	tgC/tgT		1		-1	GOLGA8A	HGNC	HGNC:31972	protein_coding	YES	CCDS10038.1	ENSP00000352111	A7E2F4		UPI000019C425	NM_181077.3			3/16		hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF7																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	73	34386697	34386697	G	A	1	0	0	0	0	0	0	0	1	6447	1195	42	3		3	GOLGA8A	15	34386697	Silent	SNP	G	C3N-01074_TP	1940169	34386697	67604492	361	23798											
ACTC1	0	.	GRCh38	chr15	34793514	34793514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtcaggatgcctctcttgCtctgggcttcatcacctacg	5	12	11	13	1	5	0	3	0	2	0	6	1	5	1	2	3	3	2	2	3	1	3			C3N-01074_TP	C3N-01074_NB	C	C																c.185G>A	p.Ser62Asn	p.S62N	ENST00000290378	3/7	248	210	38	308	307	1	strelka-varscan-mutect	ACTC1,missense_variant,p.Ser62Asn,ENST00000290378,NM_005159.4;RP11-814P5.1,intron_variant,,ENST00000503496,;RP11-814P5.1,downstream_gene_variant,,ENST00000558707,;ACTC1,upstream_gene_variant,,ENST00000557860,;ACTC1,upstream_gene_variant,,ENST00000560563,;	T	ENST00000290378	Transcript	missense_variant	841/4106	185/1134	62/377	S/N	aGc/aAc	COSM960891	1		-1	ACTC1	HGNC	HGNC:143	protein_coding	YES	CCDS10041.1	ENSP00000290378	P68032		UPI0000003F15	NM_005159.4	deleterious_low_confidence(0.04)		3/7		Gene3D:3.30.420.40,Pfam_domain:PF00022,Prints_domain:PR00190,PROSITE_patterns:PS00406,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF238,SMART_domains:SM00268,Superfamily_domains:SSF53067											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	73	34793514	34793514	C	T	1	0	0	0	0	1	0	0	0	238	797	28	3		3	ACTC1	15	34793514	Missense_Mutation	SNP	C	C3N-01074_TP	406817	34793514	67197675	362	23799											
THBS1	0	.	GRCh38	chr15	39587390	39587390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtctccatggtccgagtgGacctcctgttctacgagctg	5	12	12	12	2	2	0	0	0	2	0	5	3	4	1	4	3	2	2	4	3	1	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1164G>T	p.Trp388Cys	p.W388C	ENST00000260356	8/22	125	87	38	105	105	0	strelka-varscan-mutect	THBS1,missense_variant,p.Trp388Cys,ENST00000260356,NM_003246.2;THBS1,downstream_gene_variant,,ENST00000397591,;CTD-2033D15.2,downstream_gene_variant,,ENST00000478845,;CTD-2033D15.3,downstream_gene_variant,,ENST00000616754,;THBS1,upstream_gene_variant,,ENST00000560894,;THBS1,upstream_gene_variant,,ENST00000497720,;THBS1,upstream_gene_variant,,ENST00000466755,;THBS1,upstream_gene_variant,,ENST00000490247,;	T	ENST00000260356	Transcript	missense_variant	1329/7775	1164/3513	388/1170	W/C	tgG/tgT		1		1	THBS1	HGNC	HGNC:11785	protein_coding	YES	CCDS32194.1	ENSP00000260356	P07996		UPI00001FE219	NM_003246.2	deleterious(0)		8/22		PROSITE_profiles:PS50092,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	39587390	39587390	G	T	1	0	0	0	0	1	0	0	0	16286	1183	41	2		2	THBS1	15	39587390	Missense_Mutation	SNP	G	C3N-01074_TP	4793876	39587390	62403799	363	23800											
ATP8B4	0	.	GRCh38	chr15	49931269	49931269	+	Frame_Shift_Del	DEL	C	C	-																															tctagcggcagtcactagagCcccttcatcaggtgactgaa																								rs770589258		C3N-01074_TP	C3N-01074_NB	C	C																c.1492delG	p.Ala498LeufsTer2	p.A498Lfs*2	ENST00000284509	16/28	194	147	47	194	194	0	sindel-varindel-pindel	ATP8B4,frameshift_variant,p.Ala498LeufsTer2,ENST00000284509,NM_024837.3;ATP8B4,frameshift_variant,p.Ala498LeufsTer2,ENST00000559829,;ATP8B4,frameshift_variant,p.Ala498LeufsTer2,ENST00000557955,;ATP8B4,3_prime_UTR_variant,,ENST00000559726,;ATP8B4,intron_variant,,ENST00000558906,;ATP8B4,upstream_gene_variant,,ENST00000558458,;	-	ENST00000284509	Transcript	frameshift_variant	1634/5676	1492/3579	498/1192	A/X	Gct/ct	rs770589258	1		-1	ATP8B4	HGNC	HGNC:13536	protein_coding	YES	CCDS32238.1	ENSP00000284509	Q8TF62		UPI0000055904	NM_024837.3			16/28		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF80,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01652,Pfam_domain:PF13246,Superfamily_domains:SSF81660																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	73	49931269	49931269	C	-	1	0	1	0	1	0	0	0	0	1350	739	26	0		0	ATP8B4	15	49931269	Frame_Shift_Del	DEL	C	C3N-01074_TP	10343879	49931269	52059920	364	23801											
GLDN	0	.	GRCh38	chr15	51383815	51383815	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggcgggttgccaggacAcaacggattggatggacagc	10	5	16	10	3	0	0	0	0	0	0	0	4	0	4	2	6	4	1	2	6	1	2	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.464A>T	p.His155Leu	p.H155L	ENST00000335449	4/10	215	178	37	240	240	0	strelka-varscan-mutect	GLDN,missense_variant,p.His155Leu,ENST00000335449,NM_181789.2;GLDN,missense_variant,p.His31Leu,ENST00000396399,;GLDN,missense_variant,p.His118Leu,ENST00000560215,;GLDN,missense_variant,p.His31Leu,ENST00000612989,;GLDN,missense_variant,p.His41Leu,ENST00000558426,;GLDN,non_coding_transcript_exon_variant,,ENST00000464150,;GLDN,non_coding_transcript_exon_variant,,ENST00000560690,;GLDN,non_coding_transcript_exon_variant,,ENST00000558286,;GLDN,non_coding_transcript_exon_variant,,ENST00000559317,;GLDN,non_coding_transcript_exon_variant,,ENST00000561194,;	T	ENST00000335449	Transcript	missense_variant	520/4971	464/1656	155/551	H/L	cAc/cTc		1		1	GLDN	HGNC	HGNC:29514	protein_coding	YES	CCDS10140.2	ENSP00000335196	Q6ZMI3		UPI000015FAA3	NM_181789.2	tolerated(0.21)		4/10		Pfam_domain:PF01391,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF5,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		rs1161077771	.												T	3	4	73	51383815	51383815	A	T	1	0	0	0	0	1	0	0	0	6312	159	6	4		4	GLDN	15	51383815	Missense_Mutation	SNP	A	C3N-01074_TP	1452546	51383815	50607374	365	23802											
ZNF609	0	.	GRCh38	chr15	64499787	64499787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagcaagaaagaggtgcaggGgcgctcaggagatggtgcca	12	5	17	7	1	1	3	1	0	0	3	1	4	1	3	1	5	3	3	1	5	3	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.368G>T	p.Gly123Val	p.G123V	ENST00000326648	1/9	269	212	57	296	295	1	strelka-varscan-mutect	ZNF609,missense_variant,p.Gly123Val,ENST00000326648,NM_015042.1;ZNF609,missense_variant,p.Gly123Val,ENST00000416172,;ZNF609,upstream_gene_variant,,ENST00000558680,;	T	ENST00000326648	Transcript	missense_variant	496/8746	368/4236	123/1411	G/V	gGg/gTg		1		1	ZNF609	HGNC	HGNC:29003	protein_coding	YES	CCDS32270.1	ENSP00000316527	O15014		UPI00001D7783	NM_015042.1	deleterious(0)		1/9		hmmpanther:PTHR21564:SF3,hmmpanther:PTHR21564																	MODERATE	1	SNV	5			1										PASS		rs1181707944	.												T	3	4	73	64499787	64499787	G	T	1	0	0	0	0	1	0	0	0	18610	1232	43	2		2	ZNF609	15	64499787	Missense_Mutation	SNP	G	C3N-01074_TP	13115972	64499787	37491402	366	23803											
IGDCC3	0	.	GRCh38	chr15	65331206	65331206	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctcctgatactccagctCcggtgggtctggagaggcac	6	9	13	13	1	1	2	0	1	1	1	4	3	4	2	4	4	3	2	4	4	1	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1405G>T	p.Glu469Ter	p.E469*	ENST00000327987	9/14	150	119	31	144	144	0	varscan-mutect	IGDCC3,stop_gained,p.Glu469Ter,ENST00000327987,NM_004884.3;IGDCC3,stop_gained,p.Glu332Ter,ENST00000558354,;IGDCC3,downstream_gene_variant,,ENST00000559058,;IGDCC3,non_coding_transcript_exon_variant,,ENST00000559231,;	A	ENST00000327987	Transcript	stop_gained	1657/4479	1405/2445	469/814	E/*	Gag/Tag		1		-1	IGDCC3	HGNC	HGNC:9700	protein_coding	YES	CCDS10205.1	ENSP00000332773	Q8IVU1		UPI000019908F	NM_004884.3			9/14		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF106,SMART_domains:SM00060,Superfamily_domains:SSF49265																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	73	65331206	65331206	C	A	1	0	0	0	0	0	1	0	0	7474	864	30	2		2	IGDCC3	15	65331206	Nonsense_Mutation	SNP	C	C3N-01074_TP	831419	65331206	36659983	367	23804											
SLC24A1	0	.	GRCh38	chr15	65650851	65650851	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcctctgtccctggactGgcctgaaaccaggcagaagc	10	6	12	13	0	1	3	0	1	1	2	2	4	2	4	4	3	3	1	4	3	2	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.2702G>A	p.Trp901Ter	p.W901*	ENST00000261892	7/10	339	233	106	353	353	0	strelka-varscan-mutect	SLC24A1,stop_gained,p.Trp901Ter,ENST00000261892,NM_004727.2;SLC24A1,stop_gained,p.Trp901Ter,ENST00000339868,;SLC24A1,stop_gained,p.Trp883Ter,ENST00000537259,NM_001301033.1;SLC24A1,stop_gained,p.Trp901Ter,ENST00000399033,NM_001301031.1;SLC24A1,stop_gained,p.Trp883Ter,ENST00000546330,NM_001301032.1;SLC24A1,stop_gained,p.Trp787Ter,ENST00000544319,;SLC24A1,upstream_gene_variant,,ENST00000505666,;RP11-16E23.5,downstream_gene_variant,,ENST00000613686,;SLC24A1,non_coding_transcript_exon_variant,,ENST00000449142,;SLC24A1,non_coding_transcript_exon_variant,,ENST00000434116,;SLC24A1,downstream_gene_variant,,ENST00000539516,;	A	ENST00000261892	Transcript	stop_gained	2989/5768	2702/3300	901/1099	W/*	tGg/tAg		1		1	SLC24A1	HGNC	HGNC:10975	protein_coding	YES	CCDS45284.1	ENSP00000261892	O60721		UPI000013020C	NM_004727.2			7/10		hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF36,TIGRFAM_domain:TIGR00367																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	73	65650851	65650851	G	A	1	0	0	0	0	0	1	0	0	14731	1357	47	3		3	SLC24A1	15	65650851	Nonsense_Mutation	SNP	G	C3N-01074_TP	319645	65650851	36340338	368	23805											
ITGA11	0	.	GRCh38	chr15	68358548	68358548	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtagatgctgttggagccAtccaggacaatgacgatgtc	10	9	14	8	1	0	2	0	1	0	1	2	5	1	4	2	3	2	3	2	3	2	2	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.510T>A	p.Asp170Glu	p.D170E	ENST00000315757	6/30	183	129	54	165	165	0	strelka-varscan-mutect	ITGA11,missense_variant,p.Asp170Glu,ENST00000423218,;ITGA11,missense_variant,p.Asp170Glu,ENST00000315757,NM_001004439.1;ITGA11,non_coding_transcript_exon_variant,,ENST00000562826,;ITGA11,non_coding_transcript_exon_variant,,ENST00000568677,;ITGA11,non_coding_transcript_exon_variant,,ENST00000565868,;	T	ENST00000315757	Transcript	missense_variant	606/3955	510/3567	170/1188	D/E	gaT/gaA		1		-1	ITGA11	HGNC	HGNC:6136	protein_coding	YES	CCDS45291.1	ENSP00000327290	Q9UKX5		UPI00001FE74D	NM_001004439.1	deleterious(0)		6/30		PROSITE_profiles:PS50234,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300,Prints_domain:PR00453																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	68358548	68358548	A	T	1	0	0	0	0	1	0	0	0	7781	214	8	4		4	ITGA11	15	68358548	Missense_Mutation	SNP	A	C3N-01074_TP	2707697	68358548	33632641	369	23806											
LARP6	0	.	GRCh38	chr15	70832738	70832738	+	Nonsense_Mutation	SNP	C	C	A																															gatggctgcttccacctcctCgaactccacgatggcgcact																								novel		C3N-01074_TP	C3N-01074_NB	C	C																c.790G>T	p.Glu264Ter	p.E264*	ENST00000299213	3/3	61	51	10	82	82	0	strelka-varscan-mutect	LARP6,stop_gained,p.Glu264Ter,ENST00000299213,NM_018357.3;LARP6,downstream_gene_variant,,ENST00000559316,;	A	ENST00000299213	Transcript	stop_gained	861/4469	790/1476	264/491	E/*	Gag/Tag		1		-1	LARP6	HGNC	HGNC:24012	protein_coding	YES	CCDS32281.1	ENSP00000299213	Q9BRS8		UPI0000073C63	NM_018357.3			3/3		Gene3D:3.30.70.330,hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF71,Low_complexity_(Seg):seg,Superfamily_domains:SSF54928																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	73	70832738	70832738	C	A	1	0	0	0	0	0	1	0	0	8543	893	31	1		1	LARP6	15	70832738	Nonsense_Mutation	SNP	C	C3N-01074_TP	2474190	70832738	31158451	370	23807	500	2									
LARP6	0	.	GRCh38	chr15	70832739	70832739	+	Silent	SNP	G	G	A																															atggctgcttccacctcctcGaactccacgatggcgcactc																								rs371562863		C3N-01074_TP	C3N-01074_NB	G	G																c.789C>T	p.=	p.F263F	ENST00000299213	3/3	63	53	10	81	81	0	strelka-varscan-mutect	LARP6,synonymous_variant,p.=,ENST00000299213,NM_018357.3;LARP6,downstream_gene_variant,,ENST00000559316,;	A	ENST00000299213	Transcript	synonymous_variant	860/4469	789/1476	263/491	F	ttC/ttT	rs371562863,COSM173181	1		-1	LARP6	HGNC	HGNC:24012	protein_coding	YES	CCDS32281.1	ENSP00000299213	Q9BRS8		UPI0000073C63	NM_018357.3			3/3		Gene3D:3.30.70.330,hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF71,Low_complexity_(Seg):seg,Superfamily_domains:SSF54928											0,1						LOW	1	SNV	1		0,1	1										PASS		rs371562863	.												A	2	1	73	70832739	70832739	G	A	1	0	0	0	0	0	0	0	1	8543	1049	37	1		1	LARP6	15	70832739	Silent	SNP	G	C3N-01074_TP	1	70832739	31158450	371	23808	500	2									
C15orf59	0	.	GRCh38	chr15	73750992	73750992	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacctccctcagctccttggCcacctccttgagctcgcgaa	6	10	7	18	2	1	1	1	1	0	0	5	2	4	1	6	1	3	2	6	1	2	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.139G>T	p.Ala47Ser	p.A47S	ENST00000569673	2/3	184	161	23	166	166	0	strelka-varscan-mutect	C15orf59,missense_variant,p.Ala47Ser,ENST00000569673,;C15orf59,missense_variant,p.Ala47Ser,ENST00000379822,NM_001039614.2;C15orf59,missense_variant,p.Ala19Ser,ENST00000559817,;C15orf59-AS1,upstream_gene_variant,,ENST00000615095,;	A	ENST00000569673	Transcript	missense_variant	1344/6573	139/882	47/293	A/S	Gcc/Tcc		1		-1	C15orf59	HGNC	HGNC:33753	protein_coding	YES	CCDS32289.1	ENSP00000457205	Q2T9L4		UPI00001D778D		deleterious(0.03)		2/3		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	73	73750992	73750992	C	A	1	0	0	0	0	1	0	0	0	1850	739	26	2		2	C15orf59	15	73750992	Missense_Mutation	SNP	C	C3N-01074_TP	2918253	73750992	28240197	372	23809											
LINGO1	0	.	GRCh38	chr15	77615776	77615776	+	Missense_Mutation	SNP	G	G	T																															gggcggagcactcgcagcggGgcgggcagcccgtggccgag																								novel		C3N-01074_TP	C3N-01074_NB	G	G																c.131C>A	p.Pro44His	p.P44H	ENST00000355300	2/2	53	47	6	61	61	0	strelka-mutect	LINGO1,missense_variant,p.Pro44His,ENST00000355300,NM_032808.6;LINGO1,missense_variant,p.Pro38His,ENST00000561030,NM_001301199.1,NM_001301194.1,NM_001301191.1,NM_001301197.1,NM_001301200.1,NM_001301187.1,NM_001301189.1,NM_001301186.1,NM_001301195.1,NM_001301198.1,NM_001301192.1;LINGO1,missense_variant,p.Pro49His,ENST00000557798,;LINGO1,missense_variant,p.Pro38His,ENST00000561686,;LINGO1,missense_variant,p.Pro38His,ENST00000566711,;LINGO1,missense_variant,p.Pro38His,ENST00000567726,;LINGO1,missense_variant,p.Pro38His,ENST00000559893,;LINGO1,downstream_gene_variant,,ENST00000570216,;LINGO1,downstream_gene_variant,,ENST00000562933,;LINGO1,downstream_gene_variant,,ENST00000563316,;LINGO1,downstream_gene_variant,,ENST00000564472,;	T	ENST00000355300	Transcript	missense_variant	306/3055	131/1863	44/620	P/H	cCc/cAc		1		-1	LINGO1	HGNC	HGNC:21205	protein_coding	YES	CCDS45313.1	ENSP00000347451	Q96FE5		UPI00000377A0	NM_032808.6	deleterious(0.01)		2/2		Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF31,SMART_domains:SM00013																	MODERATE	1	SNV	1			1										PASS		rs1164446608	.												T	3	4	73	77615776	77615776	G	T	1	0	0	0	0	1	0	0	0	8735	1232	43	2		2	LINGO1	15	77615776	Missense_Mutation	SNP	G	C3N-01074_TP	3864784	77615776	24375413	373	23810	501	2									
LINGO1	0	.	GRCh38	chr15	77615778	77615778	+	Silent	SNP	C	C	A																															gcggagcactcgcagcggggCgggcagcccgtggccgagcc																								rs748472533		C3N-01074_TP	C3N-01074_NB	C	C																c.129G>T	p.=	p.P43P	ENST00000355300	2/2	51	36	15	61	61	0	strelka-varscan-mutect	LINGO1,synonymous_variant,p.=,ENST00000355300,NM_032808.6;LINGO1,synonymous_variant,p.=,ENST00000561030,NM_001301199.1,NM_001301194.1,NM_001301191.1,NM_001301197.1,NM_001301200.1,NM_001301187.1,NM_001301189.1,NM_001301186.1,NM_001301195.1,NM_001301198.1,NM_001301192.1;LINGO1,synonymous_variant,p.=,ENST00000557798,;LINGO1,synonymous_variant,p.=,ENST00000561686,;LINGO1,synonymous_variant,p.=,ENST00000566711,;LINGO1,synonymous_variant,p.=,ENST00000567726,;LINGO1,synonymous_variant,p.=,ENST00000559893,;LINGO1,downstream_gene_variant,,ENST00000570216,;LINGO1,downstream_gene_variant,,ENST00000562933,;LINGO1,downstream_gene_variant,,ENST00000563316,;LINGO1,downstream_gene_variant,,ENST00000564472,;	A	ENST00000355300	Transcript	synonymous_variant	304/3055	129/1863	43/620	P	ccG/ccT	rs748472533	1		-1	LINGO1	HGNC	HGNC:21205	protein_coding	YES	CCDS45313.1	ENSP00000347451	Q96FE5		UPI00000377A0	NM_032808.6			2/2		Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF31,SMART_domains:SM00013																	LOW	1	SNV	1			1										PASS		rs748472533	.												A	2	1	73	77615778	77615778	C	A	1	0	0	0	0	0	0	0	1	8735	755	27	1		1	LINGO1	15	77615778	Silent	SNP	C	C3N-01074_TP	2	77615778	24375411	374	23811	501	2									
GOLGA6L9	0	.	GRCh38	chr15	82434414	82434414	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagaggctgctggagaggGagaggctgctggacgaggtg	9	5	22	5	1	0	3	0	0	0	3	0	8	0	4	0	7	2	4	0	7	0	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.814G>T	p.Glu272Ter	p.E272*	ENST00000618348	6/9	542	481	61	595	594	1	varscan-mutect	GOLGA6L9,stop_gained,p.Glu272Ter,ENST00000618348,NM_198181.3;RP11-152F13.8,downstream_gene_variant,,ENST00000613086,;GOLGA6L9,non_coding_transcript_exon_variant,,ENST00000618706,;GOLGA6L9,downstream_gene_variant,,ENST00000558668,;	T	ENST00000618348	Transcript	stop_gained	874/1710	814/1299	272/432	E/*	Gag/Tag		1		1	GOLGA6L9	HGNC	HGNC:37229	protein_coding	YES	CCDS45326.1	ENSP00000481078	A6NEM1		UPI000442D01A	NM_198181.3			6/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF12,Low_complexity_(Seg):seg																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	73	82434414	82434414	G	T	1	0	0	0	0	0	1	0	0	6444	1175	41	2		2	GOLGA6L9	15	82434414	Nonsense_Mutation	SNP	G	C3N-01074_TP	4818636	82434414	19556775	375	23812											
SLC28A1	0	.	GRCh38	chr15	84895108	84895108	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggccatccccgcctgcTgctctggtttaagaggtgag	6	10	13	12	1	2	2	1	1	1	1	3	2	3	2	4	3	2	3	4	3	1	2	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.446T>C	p.Leu149Pro	p.L149P	ENST00000394573	6/19	271	177	94	257	257	0	strelka-varscan-mutect	SLC28A1,missense_variant,p.Leu149Pro,ENST00000394573,NM_004213.4;SLC28A1,missense_variant,p.Leu149Pro,ENST00000286749,NM_001287762.1;SLC28A1,missense_variant,p.Leu149Pro,ENST00000538177,NM_001287761.1;SLC28A1,missense_variant,p.Leu149Pro,ENST00000338602,NM_201651.2;	C	ENST00000394573	Transcript	missense_variant	669/2769	446/1950	149/649	L/P	cTg/cCg		1		1	SLC28A1	HGNC	HGNC:11001	protein_coding	YES	CCDS10334.1	ENSP00000378074	O00337		UPI000013DE67	NM_004213.4	tolerated(0.2)		6/19		Transmembrane_helices:TMhelix,hmmpanther:PTHR10590:SF16,hmmpanther:PTHR10590																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	73	84895108	84895108	T	C	1	0	0	0	0	1	0	0	0	14801	1580	55	5		5	SLC28A1	15	84895108	Missense_Mutation	SNP	T	C3N-01074_TP	2460694	84895108	17096081	376	23813											
NTRK3	0	.	GRCh38	chr15	87933016	87933016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaatccttgcttacctgaGgaacttattcaggtctccat	10	13	7	11	0	2	1	1	1	1	0	4	3	3	2	3	2	3	1	3	2	4	4			C3N-01074_TP	C3N-01074_NB	G	G																c.1885C>T	p.Leu629Phe	p.L629F	ENST00000360948	16/20	501	362	139	443	442	1	strelka-varscan-mutect	NTRK3,missense_variant,p.Leu629Phe,ENST00000394480,NM_002530.3;NTRK3,missense_variant,p.Leu621Phe,ENST00000558676,;NTRK3,missense_variant,p.Leu629Phe,ENST00000360948,NM_001012338.2;NTRK3,missense_variant,p.Leu621Phe,ENST00000357724,;NTRK3,missense_variant,p.Leu621Phe,ENST00000355254,NM_001243101.1;NTRK3,missense_variant,p.Leu629Phe,ENST00000626019,;NTRK3,missense_variant,p.Leu629Phe,ENST00000629765,;NTRK3,missense_variant,p.Leu621Phe,ENST00000557856,;NTRK3,missense_variant,p.Leu531Phe,ENST00000542733,NM_001320135.1;NTRK3,missense_variant,p.Leu26Phe,ENST00000558576,;NTRK3,non_coding_transcript_exon_variant,,ENST00000559680,;	A	ENST00000360948	Transcript	missense_variant	2191/3004	1885/2520	629/839	L/F	Ctc/Ttc	COSM5028023,COSM5028024	1		-1	NTRK3	HGNC	HGNC:8033	protein_coding	YES	CCDS32322.1	ENSP00000354207	Q16288	X5D2R1	UPI000006DC82	NM_001012338.2	deleterious(0)		16/20		Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF66,SMART_domains:SM00219,Superfamily_domains:SSF56112											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	73	87933016	87933016	G	A	1	0	0	0	0	1	0	0	0	10774	1014	35	3		3	NTRK3	15	87933016	Missense_Mutation	SNP	G	C3N-01074_TP	3037908	87933016	14058173	377	23814											
NR2F2	0	.	GRCh38	chr15	96332169	96332169	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggctcacagggcagcCaggcctcgcaggcgccgccc	5	3	14	19	4	1	0	1	0	0	0	2	0	1	0	5	4	2	3	5	4	0	0			C3N-01074_TP	C3N-01074_NB	C	C																c.64C>T	p.Gln22Ter	p.Q22*	ENST00000394166	1/3	130	122	8	87	87	0	strelka-varscan-mutect	NR2F2,stop_gained,p.Gln22Ter,ENST00000394166,NM_021005.3;NR2F2,intron_variant,,ENST00000421109,NM_001145155.1;NR2F2,upstream_gene_variant,,ENST00000394171,NM_001145156.1;NR2F2,upstream_gene_variant,,ENST00000453270,NM_001145157.1;NR2F2,upstream_gene_variant,,ENST00000559679,;NR2F2,upstream_gene_variant,,ENST00000410719,;NR2F2-AS1,upstream_gene_variant,,ENST00000502125,;NR2F2-AS1,upstream_gene_variant,,ENST00000561344,;NR2F2-AS1,upstream_gene_variant,,ENST00000560170,;NR2F2-AS1,upstream_gene_variant,,ENST00000560010,;	T	ENST00000394166	Transcript	stop_gained	1453/5275	64/1245	22/414	Q/*	Cag/Tag	COSM4985866	1		1	NR2F2	HGNC	HGNC:7976	protein_coding	YES	CCDS10375.1	ENSP00000377721	P24468	F1D8R0	UPI000000052E	NM_021005.3			1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF45											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	73	96332169	96332169	C	T	1	0	0	0	0	0	1	0	0	10684	595	21	3		3	NR2F2	15	96332169	Nonsense_Mutation	SNP	C	C3N-01074_TP	8399153	96332169	5659020	378	23815											
RHOT2	0	.	GRCh38	chr16	672509	672509	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggacacgagggagcaGcctcccggctacgccatcga	10	3	12	16	4	0	0	0	0	0	0	2	4	1	2	4	3	3	2	4	3	1	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1347G>A	p.=	p.Q449Q	ENST00000315082	16/19	147	118	29	166	166	0	strelka-varscan-mutect	RHOT2,synonymous_variant,p.=,ENST00000315082,NM_138769.2;WDR90,downstream_gene_variant,,ENST00000549091,;WDR90,downstream_gene_variant,,ENST00000293879,NM_145294.4;WDR90,downstream_gene_variant,,ENST00000547944,;RHBDL1,upstream_gene_variant,,ENST00000219551,NM_001318733.1;RHBDL1,upstream_gene_variant,,ENST00000352681,NM_001278720.1;WDR90,downstream_gene_variant,,ENST00000315764,;RHBDL1,upstream_gene_variant,,ENST00000561556,NM_001278721.1;RHOT2,downstream_gene_variant,,ENST00000563134,;RHOT2,downstream_gene_variant,,ENST00000561929,;WDR90,downstream_gene_variant,,ENST00000551100,;RHOT2,upstream_gene_variant,,ENST00000569197,;WDR90,downstream_gene_variant,,ENST00000546896,;RHOT2,downstream_gene_variant,,ENST00000569943,;RHOT2,non_coding_transcript_exon_variant,,ENST00000602564,;RHOT2,non_coding_transcript_exon_variant,,ENST00000568636,;RHOT2,non_coding_transcript_exon_variant,,ENST00000569675,;RHOT2,non_coding_transcript_exon_variant,,ENST00000569358,;RHOT2,non_coding_transcript_exon_variant,,ENST00000565004,;RHOT2,non_coding_transcript_exon_variant,,ENST00000561711,;WDR90,downstream_gene_variant,,ENST00000547407,;WDR90,downstream_gene_variant,,ENST00000552728,;WDR90,downstream_gene_variant,,ENST00000549024,;WDR90,downstream_gene_variant,,ENST00000553080,;RHBDL1,upstream_gene_variant,,ENST00000450775,;RHOT2,downstream_gene_variant,,ENST00000568950,;RHOT2,downstream_gene_variant,,ENST00000567017,;RHOT2,downstream_gene_variant,,ENST00000562333,;RHOT2,downstream_gene_variant,,ENST00000561983,;RHOT2,downstream_gene_variant,,ENST00000563637,;RHOT2,downstream_gene_variant,,ENST00000563776,;RHOT2,downstream_gene_variant,,ENST00000566965,;RHOT2,upstream_gene_variant,,ENST00000564659,;RHOT2,downstream_gene_variant,,ENST00000570280,;RHOT2,downstream_gene_variant,,ENST00000566214,;RHOT2,downstream_gene_variant,,ENST00000570092,;RHOT2,downstream_gene_variant,,ENST00000562708,;RHOT2,downstream_gene_variant,,ENST00000562598,;RHOT2,downstream_gene_variant,,ENST00000569706,;RHOT2,downstream_gene_variant,,ENST00000567589,;RHOT2,upstream_gene_variant,,ENST00000562957,;	A	ENST00000315082	Transcript	synonymous_variant	1461/2539	1347/1857	449/618	Q	caG/caA		1		1	RHOT2	HGNC	HGNC:21169	protein_coding	YES	CCDS10417.1	ENSP00000321971	Q8IXI1		UPI000007310B	NM_138769.2			16/19		Gene3D:3.40.50.300,PIRSF_domain:PIRSF037488,PROSITE_profiles:PS51423,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	73	672509	672509	G	A	1	0	0	0	0	0	0	0	1	13517	962	34	3		3	RHOT2	16	672509	Silent	SNP	G	C3N-01074_TP		672509	89665836	379	23816											
HAGHL	0	.	GRCh38	chr16	729415	729415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggcgcgggccctccttGcgctgcagtgggggctcctg	3	7	16	15	3	0	0	0	0	0	0	2	0	2	0	3	4	2	3	3	4	0	1	rs577972426		C3N-01074_TP	C3N-01074_NB	G	G																c.808G>C	p.Ala270Pro	p.A270P	ENST00000389703	8/8	217	175	42	194	194	0	strelka-varscan-mutect	HAGHL,missense_variant,p.Ala270Pro,ENST00000389703,NM_001290137.1,NM_001290139.1,NM_032304.3;HAGHL,3_prime_UTR_variant,,ENST00000549114,;HAGHL,3_prime_UTR_variant,,ENST00000341413,;HAGHL,3_prime_UTR_variant,,ENST00000564537,;NARFL,downstream_gene_variant,,ENST00000540986,NM_001304799.1;NARFL,downstream_gene_variant,,ENST00000568545,;NARFL,downstream_gene_variant,,ENST00000251588,NM_022493.2;CCDC78,upstream_gene_variant,,ENST00000293889,NM_001031737.2;CCDC78,upstream_gene_variant,,ENST00000345165,;HAGHL,downstream_gene_variant,,ENST00000561546,;NARFL,downstream_gene_variant,,ENST00000562421,;HAGHL,downstream_gene_variant,,ENST00000568141,;HAGHL,downstream_gene_variant,,ENST00000567414,;HAGHL,downstream_gene_variant,,ENST00000564545,;HAGHL,downstream_gene_variant,,ENST00000562141,;CCDC78,upstream_gene_variant,,ENST00000423653,;NARFL,downstream_gene_variant,,ENST00000567403,;HAGHL,downstream_gene_variant,,ENST00000563792,;HAGHL,downstream_gene_variant,,ENST00000562187,;HAGHL,intron_variant,,ENST00000563156,;HAGHL,upstream_gene_variant,,ENST00000569604,;NARFL,downstream_gene_variant,,ENST00000562862,;NARFL,downstream_gene_variant,,ENST00000569759,;HAGHL,non_coding_transcript_exon_variant,,ENST00000567696,;HAGHL,non_coding_transcript_exon_variant,,ENST00000389701,;CCDC78,upstream_gene_variant,,ENST00000482878,;CCDC78,upstream_gene_variant,,ENST00000481804,;CCDC78,upstream_gene_variant,,ENST00000478979,;NARFL,downstream_gene_variant,,ENST00000563051,;NARFL,downstream_gene_variant,,ENST00000566650,;NARFL,downstream_gene_variant,,ENST00000565425,;CCDC78,upstream_gene_variant,,ENST00000466708,;CCDC78,upstream_gene_variant,,ENST00000463539,;CCDC78,upstream_gene_variant,,ENST00000485091,;NARFL,downstream_gene_variant,,ENST00000565341,;NARFL,downstream_gene_variant,,ENST00000564285,;CCDC78,upstream_gene_variant,,ENST00000538176,;CCDC78,upstream_gene_variant,,ENST00000439619,;NARFL,downstream_gene_variant,,ENST00000562752,;CCDC78,upstream_gene_variant,,ENST00000482152,;CCDC78,upstream_gene_variant,,ENST00000460023,;CCDC78,upstream_gene_variant,,ENST00000471861,;HAGHL,downstream_gene_variant,,ENST00000561750,;HAGHL,downstream_gene_variant,,ENST00000569143,;CCDC78,upstream_gene_variant,,ENST00000544996,;CCDC78,upstream_gene_variant,,ENST00000474647,;HAGHL,downstream_gene_variant,,ENST00000569385,;HAGHL,downstream_gene_variant,,ENST00000561561,;	C	ENST00000389703	Transcript	missense_variant	1047/1347	808/849	270/282	A/P	Gcg/Ccg	rs577972426	1		1	HAGHL	HGNC	HGNC:14177	protein_coding	YES	CCDS32354.1	ENSP00000374353	Q6PII5		UPI00000498AB	NM_001290137.1,NM_001290139.1,NM_032304.3	deleterious_low_confidence(0)		8/8		hmmpanther:PTHR11935:SF77,hmmpanther:PTHR11935																	MODERATE	1	SNV	1			1										PASS		rs577972426	.												C	3	2	73	729415	729415	G	C	1	0	0	0	0	1	0	0	0	6832	1319	46	4		4	HAGHL	16	729415	Missense_Mutation	SNP	G	C3N-01074_TP	56906	729415	89608930	380	23817											
MMP25	0	.	GRCh38	chr16	3050387	3050387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attccccccagggccaggagCccgacatcctcatcgacttt	8	8	8	17	2	1	0	1	0	0	0	4	3	3	1	6	2	1	0	6	2	0	2	rs61747721		C3N-01074_TP	C3N-01074_NB	C	C																c.502C>T	p.Pro168Ser	p.P168S	ENST00000336577	4/10	237	179	58	182	181	1	strelka-varscan-mutect	MMP25,missense_variant,p.Pro168Ser,ENST00000336577,NM_022468.4;MMP25,missense_variant,p.Pro92Ser,ENST00000612971,;MMP25-AS1,downstream_gene_variant,,ENST00000573130,;MMP25-AS1,downstream_gene_variant,,ENST00000572574,;MMP25-AS1,downstream_gene_variant,,ENST00000576250,;MMP25-AS1,downstream_gene_variant,,ENST00000570949,;MMP25-AS1,downstream_gene_variant,,ENST00000573878,;MMP25-AS1,downstream_gene_variant,,ENST00000572930,;MMP25,non_coding_transcript_exon_variant,,ENST00000570755,;	T	ENST00000336577	Transcript	missense_variant	739/3554	502/1689	168/562	P/S	Ccc/Tcc	rs61747721	1		1	MMP25	HGNC	HGNC:14246	protein_coding	YES	CCDS10492.1	ENSP00000337816	Q9NPA2		UPI000003DC71	NM_022468.4	tolerated(0.09)		4/10		Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,Prints_domain:PR00138,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF142,SMART_domains:SM00235,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		rs61747721	.												T	3	4	73	3050387	3050387	C	T	1	0	0	0	0	1	0	0	0	9625	739	26	3		3	MMP25	16	3050387	Missense_Mutation	SNP	C	C3N-01074_TP	2320972	3050387	87287958	381	23818											
RBFOX1	0	.	GRCh38	chr16	7597410	7597410	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaatgacaaataaaaagAccgtcaacccttatacaaat	19	9	5	8	1	1	2	1	1	0	1	1	2	1	2	2	0	2	1	2	0	9	4	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.730A>C	p.Thr244Pro	p.T244P	ENST00000422070	9/16	223	168	55	247	247	0	strelka-varscan-mutect	RBFOX1,missense_variant,p.Thr201Pro,ENST00000550418,NM_018723.3;RBFOX1,missense_variant,p.Thr206Pro,ENST00000340209,;RBFOX1,missense_variant,p.Thr206Pro,ENST00000620507,;RBFOX1,missense_variant,p.Thr244Pro,ENST00000547372,;RBFOX1,missense_variant,p.Thr221Pro,ENST00000355637,NM_145893.2;RBFOX1,missense_variant,p.Thr221Pro,ENST00000311745,NM_145891.2;RBFOX1,missense_variant,p.Thr201Pro,ENST00000553186,NM_001142333.1;RBFOX1,missense_variant,p.Thr200Pro,ENST00000547605,;RBFOX1,missense_variant,p.Thr244Pro,ENST00000422070,NM_001308117.1;RBFOX1,missense_variant,p.Thr158Pro,ENST00000535565,;RBFOX1,missense_variant,p.Thr221Pro,ENST00000436368,NM_145892.2;RBFOX1,missense_variant,p.Thr201Pro,ENST00000547338,NM_001142334.1;RBFOX1,missense_variant,p.Thr218Pro,ENST00000552089,;RBFOX1,missense_variant,p.Thr201Pro,ENST00000551752,;RBFOX1,downstream_gene_variant,,ENST00000570626,;RBFOX1,non_coding_transcript_exon_variant,,ENST00000564850,;	C	ENST00000422070	Transcript	missense_variant	926/1684	730/1278	244/425	T/P	Acc/Ccc		1		1	RBFOX1	HGNC	HGNC:18222	protein_coding	YES	CCDS76818.1	ENSP00000391269		B7Z1U7	UPI0001914C99	NM_001308117.1	tolerated_low_confidence(0.21)		9/16		hmmpanther:PTHR15597:SF26,hmmpanther:PTHR15597,PIRSF_domain:PIRSF037932																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	73	7597410	7597410	A	C	1	0	0	0	0	1	0	0	0	13271	275	10	5		5	RBFOX1	16	7597410	Missense_Mutation	SNP	A	C3N-01074_TP	4547023	7597410	82740935	382	23819											
USP7	0	.	GRCh38	chr16	8923357	8923357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaaggaccgactcactcaGtctgctgaagcgctccacag	10	7	10	14	2	3	1	2	1	1	0	4	3	4	2	2	1	2	3	2	1	2	1			C3N-01074_TP	C3N-01074_NB	G	G																c.241C>A	p.Leu81Met	p.L81M	ENST00000344836	3/31	386	334	52	300	299	1	strelka-varscan-mutect	USP7,missense_variant,p.Leu81Met,ENST00000344836,NM_001321858.1,NM_003470.2;USP7,missense_variant,p.Leu65Met,ENST00000381886,NM_001286458.1,NM_001286457.1;USP7,missense_variant,p.Leu67Met,ENST00000566273,;USP7,missense_variant,p.Leu23Met,ENST00000569230,;USP7,missense_variant,p.Leu23Met,ENST00000566004,;USP7,missense_variant,p.Leu23Met,ENST00000564117,;USP7,5_prime_UTR_variant,,ENST00000563085,;USP7,non_coding_transcript_exon_variant,,ENST00000566224,;USP7,missense_variant,p.Leu81Met,ENST00000563961,;USP7,missense_variant,p.Leu23Met,ENST00000542333,;USP7,3_prime_UTR_variant,,ENST00000565455,;	T	ENST00000344836	Transcript	missense_variant	440/5412	241/3309	81/1102	L/M	Ctg/Atg	COSM4792276	1		-1	USP7	HGNC	HGNC:12630	protein_coding	YES	CCDS32385.1	ENSP00000343535	Q93009		UPI000013F0BE	NM_001321858.1,NM_003470.2	tolerated(0.17)		3/31		PROSITE_profiles:PS50144,Pfam_domain:PF00917,SMART_domains:SM00061,Superfamily_domains:SSF49599											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	73	8923357	8923357	G	T	1	0	0	0	0	1	0	0	0	17631	1020	36	2		2	USP7	16	8923357	Missense_Mutation	SNP	G	C3N-01074_TP	1325947	8923357	81414988	383	23820											
NOMO1	0	.	GRCh38	chr16	14863143	14863143	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggagacagatgctcatGgatcattttgttttaaagca	11	13	10	7	1	2	2	2	0	0	2	2	4	2	3	1	2	2	3	1	2	2	4	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1351G>T	p.Gly451Ter	p.G451*	ENST00000287667	12/31	136	113	23	159	158	1	strelka-varscan-mutect	NOMO1,stop_gained,p.Gly451Ter,ENST00000287667,NM_014287.3;NOMO1,stop_gained,p.Gly451Ter,ENST00000620755,;NOMO1,stop_gained,p.Gly284Ter,ENST00000610363,;NOMO1,downstream_gene_variant,,ENST00000566883,;RP11-719K4.7,upstream_gene_variant,,ENST00000603741,;	T	ENST00000287667	Transcript	stop_gained	1522/4355	1351/3669	451/1222	G/*	Gga/Tga		1		1	NOMO1	HGNC	HGNC:30060	protein_coding	YES	CCDS10556.1	ENSP00000287667	Q15155		UPI000013D37E	NM_014287.3			12/31		Gene3D:2.60.40.10,hmmpanther:PTHR23303																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	73	14863143	14863143	G	T	1	0	0	0	0	0	1	0	0	10575	1349	47	2		2	NOMO1	16	14863143	Nonsense_Mutation	SNP	G	C3N-01074_TP	5939786	14863143	75475202	384	23821											
HS3ST2	0	.	GRCh38	chr16	22814825	22814825	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acttctccagaagtcccgccCctgtgatccctccgggccga	6	8	9	18	3	1	2	0	1	1	1	5	3	4	2	7	1	0	0	7	1	1	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.215C>G	p.Pro72Arg	p.P72R	ENST00000261374	1/2	367	299	68	363	363	0	strelka-varscan-mutect	HS3ST2,missense_variant,p.Pro72Arg,ENST00000261374,NM_006043.1;CTC-591M7.1,upstream_gene_variant,,ENST00000636354,;CTC-591M7.1,upstream_gene_variant,,ENST00000636266,;HS3ST2,missense_variant,p.Pro72Arg,ENST00000473392,;	G	ENST00000261374	Transcript	missense_variant	649/2314	215/1104	72/367	P/R	cCc/cGc		1		1	HS3ST2	HGNC	HGNC:5195	protein_coding	YES	CCDS10606.1	ENSP00000261374	Q9Y278		UPI000004C63A	NM_006043.1	tolerated(0.61)		1/2		hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	73	22814825	22814825	C	G	1	0	0	0	0	1	0	0	0	7258	623	22	4		4	HS3ST2	16	22814825	Missense_Mutation	SNP	C	C3N-01074_TP	7951682	22814825	67523520	385	23822											
EARS2	0	.	GRCh38	chr16	23544561	23544561	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccttcttcaggagctccagCcgctggggtgagcagaaaca	9	8	12	12	1	2	2	1	1	1	1	4	3	4	3	3	3	4	3	3	3	1	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.438G>T	p.=	p.R146R	ENST00000563232	3/8	202	154	48	117	117	0	strelka-varscan-mutect	EARS2,synonymous_variant,p.=,ENST00000449606,NM_001083614.1;EARS2,synonymous_variant,p.=,ENST00000563459,;EARS2,synonymous_variant,p.=,ENST00000564501,;EARS2,synonymous_variant,p.=,ENST00000563232,NM_001308211.1;EARS2,splice_region_variant,,ENST00000564987,;EARS2,non_coding_transcript_exon_variant,,ENST00000564461,;EARS2,non_coding_transcript_exon_variant,,ENST00000566017,;EARS2,non_coding_transcript_exon_variant,,ENST00000561859,;EARS2,3_prime_UTR_variant,,ENST00000564668,;EARS2,3_prime_UTR_variant,,ENST00000562581,;EARS2,downstream_gene_variant,,ENST00000564997,;	A	ENST00000563232	Transcript	synonymous_variant	439/1709	438/1605	146/534	R	cgG/cgT		1		-1	EARS2	HGNC	HGNC:29419	protein_coding	YES	CCDS76844.1	ENSP00000456218	Q5JPH6		UPI000019839B	NM_001308211.1			3/8		HAMAP:MF_00022_B,hmmpanther:PTHR11451:SF26,hmmpanther:PTHR11451,Pfam_domain:PF00749,Gene3D:3.90.800.10,TIGRFAM_domain:TIGR00464,Superfamily_domains:SSF52374																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	73	23544561	23544561	C	A	1	0	0	0	0	0	0	0	1	4702	726	26	2		2	EARS2	16	23544561	Silent	SNP	C	C3N-01074_TP	729736	23544561	66793784	386	23823											
SPNS1	0	.	GRCh38	chr16	28982041	28982041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccttcccggagactcctGctcttcctctgacaggtgcc	4	11	9	17	1	2	2	0	1	2	1	5	3	5	2	5	2	3	1	5	2	0	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.950G>T	p.Cys317Phe	p.C317F	ENST00000311008	7/12	177	130	47	167	166	1	strelka-varscan-mutect	SPNS1,missense_variant,p.Cys317Phe,ENST00000311008,NM_001142448.1,NM_032038.2;SPNS1,missense_variant,p.Cys244Phe,ENST00000323081,NM_001142450.1;SPNS1,missense_variant,p.Cys362Phe,ENST00000565975,;SPNS1,missense_variant,p.Cys311Phe,ENST00000566059,;SPNS1,intron_variant,,ENST00000334536,NM_001142451.1;SPNS1,intron_variant,,ENST00000352260,NM_001142449.1;SPNS1,intron_variant,,ENST00000564476,;SPNS1,intron_variant,,ENST00000568829,;LAT,upstream_gene_variant,,ENST00000395456,NM_001014987.1;LAT,upstream_gene_variant,,ENST00000360872,NM_014387.3;LAT,upstream_gene_variant,,ENST00000395461,NM_001014989.1;LAT,upstream_gene_variant,,ENST00000454369,NM_001014988.1;LAT,upstream_gene_variant,,ENST00000564277,;SPNS1,downstream_gene_variant,,ENST00000567771,;LAT,upstream_gene_variant,,ENST00000566177,;SPNS1,downstream_gene_variant,,ENST00000568388,;LAT,upstream_gene_variant,,ENST00000570232,;LAT,upstream_gene_variant,,ENST00000630764,;RP11-264B17.4,upstream_gene_variant,,ENST00000567209,;SPNS1,intron_variant,,ENST00000561868,;RP11-264B17.3,upstream_gene_variant,,ENST00000354453,;LAT,upstream_gene_variant,,ENST00000563964,;RP11-264B17.3,non_coding_transcript_exon_variant,,ENST00000569969,;SPNS1,downstream_gene_variant,,ENST00000568900,;LAT,upstream_gene_variant,,ENST00000566270,;LAT,upstream_gene_variant,,ENST00000562701,;LAT,upstream_gene_variant,,ENST00000568899,;LAT,upstream_gene_variant,,ENST00000562472,;LAT,upstream_gene_variant,,ENST00000568440,;	T	ENST00000311008	Transcript	missense_variant	1327/2208	950/1587	317/528	C/F	tGc/tTc		1		1	SPNS1	HGNC	HGNC:30621	protein_coding	YES	CCDS10646.1	ENSP00000309945	Q9H2V7		UPI000004DB99	NM_001142448.1,NM_032038.2	deleterious(0)		7/12		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR23505,hmmpanther:PTHR23505:SF13,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	28982041	28982041	G	T	1	0	0	0	0	1	0	0	0	15427	1319	46	2		2	SPNS1	16	28982041	Missense_Mutation	SNP	G	C3N-01074_TP	5437480	28982041	61356304	387	23824											
ZNF720	0	.	GRCh38	chr16	31753982	31753982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taacaaaaacctcactgttaCaggaggtcaaaaacatgaaa	20	7	6	8	0	2	1	2	1	0	0	2	2	2	2	1	2	4	1	1	2	7	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.233C>A	p.Thr78Lys	p.T78K	ENST00000398696	2/2	263	190	73	284	284	0	strelka-varscan-mutect	ZNF720,missense_variant,p.Thr78Lys,ENST00000398696,;ZNF720,intron_variant,,ENST00000316491,NM_001130913.1;ZNF720,intron_variant,,ENST00000539915,;ZNF720,intron_variant,,ENST00000534369,;ZNF720,intron_variant,,ENST00000529515,;ZNF720,downstream_gene_variant,,ENST00000530881,;ZNF720,intron_variant,,ENST00000531864,;ZNF720,intron_variant,,ENST00000533488,;ZNF720,intron_variant,,ENST00000544044,;ZNF720,intron_variant,,ENST00000542684,;ZNF720,3_prime_UTR_variant,,ENST00000529943,;ZNF720,intron_variant,,ENST00000534277,;ZNF720,intron_variant,,ENST00000398707,;	A	ENST00000398696	Transcript	missense_variant	393/1339	233/537	78/178	T/K	aCa/aAa		1		1	ZNF720	HGNC	HGNC:26987	protein_coding			ENSP00000443758	Q7Z2F6		UPI00001C1064		tolerated(0.93)		2/2																			MODERATE		SNV	4			1										PASS		rs1366613643	.												A	3	1	73	31753982	31753982	C	A	1	0	0	0	0	1	0	0	0	18697	478	17	2		2	ZNF720	16	31753982	Missense_Mutation	SNP	C	C3N-01074_TP	2771941	31753982	58584363	388	23825											
PRSS54	0	.	GRCh38	chr16	58284683	58284683	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcaagatctttcacgaaGattttcctcaggacactcat	12	13	6	10	1	5	2	4	0	1	2	6	4	6	3	1	1	0	0	1	1	2	3	rs142166944		C3N-01074_TP	C3N-01074_NB	G	G																c.561C>A	p.=	p.I187I	ENST00000219301	6/7	290	197	93	252	251	1	strelka-varscan-mutect	PRSS54,synonymous_variant,p.=,ENST00000219301,NM_001305173.1,NM_001080492.1;PRSS54,synonymous_variant,p.=,ENST00000567164,;PRSS54,synonymous_variant,p.=,ENST00000543437,NM_001305174.1;PRSS54,synonymous_variant,p.=,ENST00000569079,;CCDC113,downstream_gene_variant,,ENST00000219299,NM_014157.3;CCDC113,downstream_gene_variant,,ENST00000443128,NM_001142302.1;PRSS54,downstream_gene_variant,,ENST00000569727,;PRSS54,non_coding_transcript_exon_variant,,ENST00000563336,;	T	ENST00000219301	Transcript	synonymous_variant	956/1810	561/1188	187/395	I	atC/atA	rs142166944,COSM971972,COSM971973	1		-1	PRSS54	HGNC	HGNC:26336	protein_coding	YES	CCDS32463.1	ENSP00000219301	Q6PEW0	A0A140VKC3	UPI0000199F24	NM_001305173.1,NM_001080492.1			6/7		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF208,SMART_domains:SM00020,Superfamily_domains:SSF50494											0,1,1						LOW		SNV	5		0,1,1	1										PASS		rs142166944	.												T	2	4	73	58284683	58284683	G	T	1	0	0	0	0	0	0	0	1	12782	932	33	2		2	PRSS54	16	58284683	Silent	SNP	G	C3N-01074_TP	26530701	58284683	32053662	389	23826											
CARMIL2	0	.	GRCh38	chr16	67647875	67647875	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggccgggcactggccAccaatgccgccttcgactcc	5	7	11	18	3	1	0	0	0	1	0	3	1	2	0	6	3	1	1	6	3	1	1	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.988A>T	p.Thr330Ser	p.T330S	ENST00000334583	13/38	95	84	11	114	114	0	strelka-varscan-mutect	CARMIL2,missense_variant,p.Thr330Ser,ENST00000334583,NM_001013838.1;CARMIL2,missense_variant,p.Thr330Ser,ENST00000545661,NM_001317026.1;CARMIL2,non_coding_transcript_exon_variant,,ENST00000602321,;CARMIL2,non_coding_transcript_exon_variant,,ENST00000602742,;CARMIL2,downstream_gene_variant,,ENST00000602563,;CARMIL2,upstream_gene_variant,,ENST00000602562,;CARMIL2,upstream_gene_variant,,ENST00000602633,;CARMIL2,upstream_gene_variant,,ENST00000602931,;CARMIL2,downstream_gene_variant,,ENST00000602467,;	T	ENST00000334583	Transcript	missense_variant	1316/4687	988/4308	330/1435	T/S	Acc/Tcc		1		1	CARMIL2	HGNC	HGNC:27089	protein_coding	YES	CCDS45513.1	ENSP00000334958	Q6F5E8		UPI00005194F2	NM_001013838.1	tolerated(0.5)		13/38		hmmpanther:PTHR24112:SF32,hmmpanther:PTHR24112,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	67647875	67647875	A	T	1	0	0	0	0	1	0	0	0	2352	159	6	4		4	CARMIL2	16	67647875	Missense_Mutation	SNP	A	C3N-01074_TP	9363192	67647875	22690470	390	23827											
NQO1	0	.	GRCh38	chr16	69711076	69711076	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcctcatcctgtaccTcttttttcattaagaatcct	7	20	2	12	0	4	1	2	0	2	1	7	1	6	1	4	0	1	1	4	0	3	7	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.725A>T	p.Glu242Val	p.E242V	ENST00000320623	6/6	342	300	42	313	313	0	strelka-varscan-mutect	NQO1,missense_variant,p.Glu242Val,ENST00000320623,NM_000903.2;NQO1,missense_variant,p.Glu208Val,ENST00000379047,NM_001025433.1;NQO1,missense_variant,p.Glu204Val,ENST00000379046,NM_001025434.1;NQO1,missense_variant,p.Glu170Val,ENST00000439109,NM_001286137.1;NQO1,missense_variant,p.Glu221Val,ENST00000564043,;NQO1,missense_variant,p.Glu204Val,ENST00000561500,;CTD-2033A16.1,downstream_gene_variant,,ENST00000562696,;	A	ENST00000320623	Transcript	missense_variant	1237/2912	725/825	242/274	E/V	gAg/gTg		1		-1	NQO1	HGNC	HGNC:2874	protein_coding	YES	CCDS10883.1	ENSP00000319788	P15559		UPI0000000C86	NM_000903.2	deleterious(0)		6/6		Superfamily_domains:SSF52218																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	69711076	69711076	T	A	1	0	0	0	0	1	0	0	0	10667	1565	54	4		4	NQO1	16	69711076	Missense_Mutation	SNP	T	C3N-01074_TP	2063201	69711076	20627269	391	23828											
PKD1L3	0	.	GRCh38	chr16	71949969	71949969	+	Frame_Shift_Del	DEL	G	G	-																															ttggacaggccatttgagatGggcttttttccttcttctga																								novel		C3N-01074_TP	C3N-01074_NB	G	G																c.3432delC	p.Ile1145SerfsTer9	p.I1145Sfs*9	ENST00000620267	21/30	293	204	89	266	266	0	sindel-varindel-pindel	PKD1L3,frameshift_variant,p.Ile1145SerfsTer9,ENST00000620267,NM_181536.1;	-	ENST00000620267	Transcript	frameshift_variant	3432/5199	3432/5199	1144/1732	P/X	ccC/cc		1		-1	PKD1L3	HGNC	HGNC:21716	protein_coding	YES	CCDS73912.1	ENSP00000480090	Q7Z443		UPI00001A36E5	NM_181536.1			21/30		hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF136																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	73	71949969	71949969	G	-	1	0	1	0	1	0	0	0	0	12061	1335	47	0		0	PKD1L3	16	71949969	Frame_Shift_Del	DEL	G	C3N-01074_TP	2238893	71949969	18388376	392	23829											
PMFBP1	0	.	GRCh38	chr16	72126027	72126027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttccgggataatgcatCataggcttctttggtgatgg	8	14	12	7	1	2	2	1	2	1	0	3	3	3	3	1	4	1	2	1	4	2	5	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2194G>T	p.Asp732Tyr	p.D732Y	ENST00000237353	15/21	323	274	49	311	311	0	strelka-varscan-mutect	PMFBP1,missense_variant,p.Asp737Tyr,ENST00000537465,;PMFBP1,missense_variant,p.Asp732Tyr,ENST00000237353,NM_031293.2;PMFBP1,missense_variant,p.Asp587Tyr,ENST00000355636,NM_001160213.1;PMFBP1,upstream_gene_variant,,ENST00000537792,;PMFBP1,3_prime_UTR_variant,,ENST00000379073,;PMFBP1,3_prime_UTR_variant,,ENST00000537392,;	A	ENST00000237353	Transcript	missense_variant	2456/3527	2194/3024	732/1007	D/Y	Gat/Tat		1		-1	PMFBP1	HGNC	HGNC:17728	protein_coding	YES	CCDS32483.1	ENSP00000237353	Q8TBY8		UPI0000141554	NM_031293.2	deleterious(0)		15/21		hmmpanther:PTHR18881,hmmpanther:PTHR18881:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	72126027	72126027	C	A	1	0	0	0	0	1	0	0	0	12241	826	29	2		2	PMFBP1	16	72126027	Missense_Mutation	SNP	C	C3N-01074_TP	176058	72126027	18212318	393	23830											
NUDT7	0	.	GRCh38	chr16	77741735	77741735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attacgtcacacgtcttggtCaccgttttattaatcatatc	10	16	5	10	3	4	0	3	0	1	0	5	0	4	0	1	1	1	1	1	1	4	6	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.502C>T	p.His168Tyr	p.H168Y	ENST00000268533	4/4	291	238	53	338	338	0	strelka-varscan-mutect	NUDT7,missense_variant,p.His168Tyr,ENST00000268533,NM_001105663.2;NUDT7,missense_variant,p.His153Tyr,ENST00000613075,NM_001243660.1;NUDT7,missense_variant,p.His115Tyr,ENST00000437314,NM_001243661.1;NUDT7,3_prime_UTR_variant,,ENST00000564085,NM_001243657.1;NUDT7,3_prime_UTR_variant,,ENST00000563839,;RP11-264M12.2,non_coding_transcript_exon_variant,,ENST00000563690,;NUDT7,non_coding_transcript_exon_variant,,ENST00000564031,;	T	ENST00000268533	Transcript	missense_variant	571/1096	502/717	168/238	H/Y	Cac/Tac		1		1	NUDT7	HGNC	HGNC:8054	protein_coding	YES	CCDS42195.1	ENSP00000268533	P0C024		UPI000003EFFE	NM_001105663.2	tolerated(1)		4/4		Gene3D:3.90.79.10,PROSITE_profiles:PS51462,hmmpanther:PTHR12992,Superfamily_domains:SSF55811																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	73	77741735	77741735	C	T	1	0	0	0	0	1	0	0	0	10808	826	29	3		3	NUDT7	16	77741735	Missense_Mutation	SNP	C	C3N-01074_TP	5615708	77741735	12596610	394	23831											
KCNG4	0	.	GRCh38	chr16	84222565	84222565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccaataggaggcggggatGctggtgaactccagcacccg	10	5	14	12	2	0	1	0	1	0	0	1	3	1	3	3	5	3	2	3	5	3	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1212C>A	p.Ser404Arg	p.S404R	ENST00000308251	3/3	183	109	74	308	308	0	strelka-varscan-mutect	KCNG4,missense_variant,p.Ser404Arg,ENST00000308251,NM_172347.2;	T	ENST00000308251	Transcript	missense_variant	1281/5179	1212/1560	404/519	S/R	agC/agA		1		-1	KCNG4	HGNC	HGNC:19697	protein_coding	YES	CCDS10945.1	ENSP00000312129	Q8TDN1	Q547S7	UPI00000557D8	NM_172347.2	deleterious(0)		3/3		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF167,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	84222565	84222565	G	T	1	0	0	0	0	1	0	0	0	7946	1310	46	2		2	KCNG4	16	84222565	Missense_Mutation	SNP	G	C3N-01074_TP	6480830	84222565	6115780	395	23832											
ZNF469	0	.	GRCh38	chr16	88429784	88429784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcggtctccaggcccccctGggctcccctcgccccccgct	2	6	10	23	3	1	0	0	0	1	0	4	0	2	0	9	3	1	2	9	3	0	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.2314G>T	p.Gly772Trp	p.G772W	ENST00000437464	1/2	130	104	26	176	175	1	strelka-varscan-mutect	ZNF469,missense_variant,p.Gly772Trp,ENST00000565624,;ZNF469,missense_variant,p.Gly772Trp,ENST00000437464,NM_001127464.2;	T	ENST00000437464	Transcript	missense_variant	2314/13203	2314/11778	772/3925	G/W	Ggg/Tgg		1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2	deleterious(0.01)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	73	88429784	88429784	G	T	1	0	0	0	0	1	0	0	0	18500	1348	47	2		2	ZNF469	16	88429784	Missense_Mutation	SNP	G	C3N-01074_TP	4207219	88429784	1908561	396	23833											
GSG2	0	.	GRCh38	chr17	3723955	3723955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catggcggcttcgctcccggGacctgggagccggcttttcc	3	9	14	15	4	0	0	0	0	0	0	3	2	2	2	4	5	1	3	4	5	0	3	rs772739493		C3N-01074_TP	C3N-01074_NB	G	G																c.20G>T	p.Gly7Val	p.G7V	ENST00000325418	1/1	48	22	26	86	86	0	strelka-varscan-mutect	GSG2,missense_variant,p.Gly7Val,ENST00000325418,NM_031965.2;ITGAE,intron_variant,,ENST00000263087,NM_002208.4;ITGAE,downstream_gene_variant,,ENST00000574026,;CTD-3195I5.3,downstream_gene_variant,,ENST00000571741,;ITGAE,downstream_gene_variant,,ENST00000571185,;ITGAE,upstream_gene_variant,,ENST00000570360,;ITGAE,upstream_gene_variant,,ENST00000572179,;ITGAE,intron_variant,,ENST00000570415,;ITGAE,upstream_gene_variant,,ENST00000572433,;	T	ENST00000325418	Transcript	missense_variant	53/2797	20/2397	7/798	G/V	gGa/gTa	rs772739493	1		1	GSG2	HGNC	HGNC:19682	protein_coding	YES	CCDS11036.1	ENSP00000325290	Q8TF76		UPI0000141654	NM_031965.2	tolerated_low_confidence(0.11)		1/1																			MODERATE		SNV				1										PASS		rs772739493	.												T	3	4	73	3723955	3723955	G	T	1	0	0	0	0	1	0	0	0	6706	1174	41	2		2	GSG2	17	3723955	Missense_Mutation	SNP	G	C3N-01074_TP		3723955	79533486	397	23834											
MYBBP1A	0	.	GRCh38	chr17	4555294	4555295	+	Frame_Shift_Del	DEL	AC	AC	-																															ctgcgtcgcttctccaggcgAcatcggctgggcgggatccc																								novel		C3N-01074_TP	C3N-01074_NB	AC	AC																c.30_31delGT	p.Met10IlefsTer36	p.M10Ifs*36	ENST00000381556	1/27	215	190	25	233	233	0	sindel-varindel-pindel	MYBBP1A,frameshift_variant,p.Met10IlefsTer36,ENST00000254718,NM_014520.3;MYBBP1A,frameshift_variant,p.Met10IlefsTer36,ENST00000381556,NM_001105538.1;MYBBP1A,upstream_gene_variant,,ENST00000573116,;GGT6,downstream_gene_variant,,ENST00000301395,NM_001288704.1,NM_153338.3;GGT6,downstream_gene_variant,,ENST00000574154,NM_001122890.2;GGT6,downstream_gene_variant,,ENST00000381550,NM_001288702.1;GGT6,downstream_gene_variant,,ENST00000573591,;GGT6,downstream_gene_variant,,ENST00000574584,NM_001288703.1;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000570986,;GGT6,downstream_gene_variant,,ENST00000575573,;	-	ENST00000381556	Transcript	frameshift_variant	92-93/4104	30-31/3999	10-11/1332	MS/IX	atGTcg/atcg		1		-1	MYBBP1A	HGNC	HGNC:7546	protein_coding	YES	CCDS42238.1	ENSP00000370968	Q9BQG0		UPI0000551C8B	NM_001105538.1			1/27		hmmpanther:PTHR13213,hmmpanther:PTHR13213:SF2																	HIGH		deletion	5			1										PASS		.	.												-	7	5	73	4555294	4555294	AC	-	1	0	1	0	1	0	0	0	0	10008	275	10	0		0	MYBBP1A	17	4555294	Frame_Shift_Del	DEL	AC	C3N-01074_TP	831339	4555294	78702147	398	23835											
TP53	0	.	GRCh38	chr17	7674893	7674893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agggcaccaccacactatgtCgaaaagtgtttctgtcatcc	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2	rs587778720		C3N-01074_TP	C3N-01074_NB	C	C																c.638G>C	p.Arg213Pro	p.R213P	ENST00000269305	6/11	438	242	196	477	477	0	strelka-varscan-mutect	TP53,missense_variant,p.Arg213Pro,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Arg213Pro,ENST00000420246,;TP53,missense_variant,p.Arg174Pro,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Arg174Pro,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg213Pro,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Arg174Pro,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Arg213Pro,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Arg174Pro,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Arg213Pro,ENST00000445888,;TP53,missense_variant,p.Arg174Pro,ENST00000619485,;TP53,missense_variant,p.Arg81Pro,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Arg54Pro,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Arg81Pro,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Arg54Pro,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Arg81Pro,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Arg54Pro,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Arg213Pro,ENST00000359597,;TP53,missense_variant,p.Arg202Pro,ENST00000615910,;TP53,missense_variant,p.Arg213Pro,ENST00000413465,;TP53,missense_variant,p.Arg81Pro,ENST00000509690,;TP53,missense_variant,p.Arg120Pro,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,missense_variant,p.Arg174Pro,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	G	ENST00000269305	Transcript	missense_variant	828/2579	638/1182	213/393	R/P	cGa/cCa	rs587778720,CM004906,CM022474,TP53_g.12707G>C,TP53_g.12707G>T,TP53_g.12707G>A,COSM10735,COSM11860,COSM131466,COSM131467,COSM131468,COSM131469,COSM1726594,COSM1741334,COSM241997,COSM241998,COSM241999,COSM242000,COSM3378349,COSM3403265,COSM3717650,COSM3717651,COSM3717652,COSM3717653,COSM3717654,COSM3717655,COSM43650	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		6/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										not_provided,pathogenic	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs587778720	.												G	3	3	73	7674893	7674893	C	G	1	0	0	0	0	1	0	0	0	16859	884	31	4		4	TP53	17	7674893	Missense_Mutation	SNP	C	C3N-01074_TP	3119599	7674893	75582548	399	23836											
DNAH2	0	.	GRCh38	chr17	7770914	7770914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgattctcacagtgcagcGtcagtggatgtacttagagg	10	11	13	7	1	2	2	2	1	1	1	3	4	2	3	0	2	3	2	0	2	2	3	rs140070507		C3N-01074_TP	C3N-01074_NB	G	G																c.4343G>A	p.Arg1448His	p.R1448H	ENST00000572933	27/86	126	61	65	175	175	0	strelka-varscan-mutect	DNAH2,missense_variant,p.Arg1448His,ENST00000572933,NM_020877.3;DNAH2,missense_variant,p.Arg1448His,ENST00000389173,;DNAH2,3_prime_UTR_variant,,ENST00000574518,;	A	ENST00000572933	Transcript	missense_variant	5803/14955	4343/13284	1448/4427	R/H	cGt/cAt	rs140070507,COSM3989382	1		1	DNAH2	HGNC	HGNC:2948	protein_coding	YES	CCDS32551.1	ENSP00000458355	Q9P225		UPI00005B2F0D	NM_020877.3	deleterious(0.02)		27/86		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF08393											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs140070507	.												A	3	1	73	7770914	7770914	G	A	1	0	0	0	0	1	0	0	0	4417	1145	40	1		1	DNAH2	17	7770914	Missense_Mutation	SNP	G	C3N-01074_TP	96021	7770914	75486527	400	23837											
CFAP52	0	.	GRCh38	chr17	9585944	9585944	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctggagagtacatcgcctCcggacaagtcacattcatgg	10	9	11	11	2	3	1	2	0	1	1	5	3	4	2	2	3	1	1	2	3	2	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.242C>A	p.Ser81Tyr	p.S81Y	ENST00000352665	2/14	172	92	80	229	229	0	strelka-varscan-mutect	CFAP52,missense_variant,p.Ser81Tyr,ENST00000352665,NM_145054.4;CFAP52,missense_variant,p.Ser81Tyr,ENST00000576499,;CFAP52,intron_variant,,ENST00000396219,NM_001080556.1;CFAP52,3_prime_UTR_variant,,ENST00000576630,;CFAP52,non_coding_transcript_exon_variant,,ENST00000576320,;CFAP52,intron_variant,,ENST00000575247,;CFAP52,intron_variant,,ENST00000572333,;CFAP52,intron_variant,,ENST00000574937,;RPL19P18,downstream_gene_variant,,ENST00000466869,;	A	ENST00000352665	Transcript	missense_variant	311/2193	242/1863	81/620	S/Y	tCc/tAc		1		1	CFAP52	HGNC	HGNC:16053	protein_coding	YES	CCDS11149.2	ENSP00000339449	Q8N1V2		UPI00001AECC1	NM_145054.4	deleterious(0)		2/14		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF14,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	9585944	9585944	C	A	1	0	0	0	0	1	0	0	0	3023	855	30	2		2	CFAP52	17	9585944	Missense_Mutation	SNP	C	C3N-01074_TP	1815030	9585944	73671497	401	23838											
MYH13	0	.	GRCh38	chr17	10359961	10359961	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtggggctgctcaccTgcattttgcctggctgtgtc	3	13	14	11	0	1	0	1	0	0	0	2	0	1	0	2	4	4	5	2	4	0	2	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.644A>C	p.Gln215Pro	p.Q215P	ENST00000418404	6/41	165	90	75	230	230	0	strelka-varscan-mutect	MYH13,missense_variant,p.Gln215Pro,ENST00000418404,;MYH13,missense_variant,p.Gln215Pro,ENST00000252172,NM_003802.2;MYH13,missense_variant,p.Gln215Pro,ENST00000621918,;	G	ENST00000418404	Transcript	missense_variant,splice_region_variant	808/6296	644/5817	215/1938	Q/P	cAg/cCg		1		-1	MYH13	HGNC	HGNC:7571	protein_coding	YES	CCDS45613.1	ENSP00000404570	Q9UKX3		UPI0000DB39EA		tolerated(0.08)		6/41		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF504,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		rs951790879	.												G	3	3	73	10359961	10359961	T	G	1	0	0	0	0	1	0	0	0	10032	1594	55	5		5	MYH13	17	10359961	Missense_Mutation	SNP	T	C3N-01074_TP	774017	10359961	72897480	402	23839											
MYOCD	0	.	GRCh38	chr17	12744311	12744311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaagtcccctccacctatGgactcagcctacgctcggct	8	8	9	16	2	1	1	1	0	0	1	4	3	3	2	5	2	2	2	5	2	3	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.846G>A	p.Met282Ile	p.M282I	ENST00000425538	8/14	397	240	157	404	403	1	strelka-varscan-mutect	MYOCD,missense_variant,p.Met282Ile,ENST00000425538,NM_001146312.2;MYOCD,missense_variant,p.Met282Ile,ENST00000343344,NM_153604.3;MYOCD,upstream_gene_variant,,ENST00000443061,;MYOCD,non_coding_transcript_exon_variant,,ENST00000395988,;	A	ENST00000425538	Transcript	missense_variant	1046/8466	846/2961	282/986	M/I	atG/atA		1		1	MYOCD	HGNC	HGNC:16067	protein_coding	YES	CCDS54091.1	ENSP00000401678	Q8IZQ8		UPI000022A2E2	NM_001146312.2	deleterious(0)		8/14		hmmpanther:PTHR22793:SF11,hmmpanther:PTHR22793																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	12744311	12744311	G	A	1	0	0	0	0	1	0	0	0	10088	1348	47	3		3	MYOCD	17	12744311	Missense_Mutation	SNP	G	C3N-01074_TP	2384350	12744311	70513130	403	23840											
MAPK7	0	.	GRCh38	chr17	19382201	19382201	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtaccccagcctgcctGcccaccccctggccctgcac	4	6	7	24	0	0	0	0	0	0	0	0	0	0	0	9	1	5	2	9	1	1	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1898G>C	p.Cys633Ser	p.C633S	ENST00000308406	5/7	226	181	45	272	272	0	strelka-varscan-mutect	MAPK7,missense_variant,p.Cys633Ser,ENST00000308406,NM_139033.2;MAPK7,missense_variant,p.Cys633Ser,ENST00000395604,NM_002749.3;MAPK7,missense_variant,p.Cys633Ser,ENST00000395602,NM_139034.2;MAPK7,missense_variant,p.Cys494Ser,ENST00000299612,NM_139032.2;MFAP4,downstream_gene_variant,,ENST00000395592,NM_001198695.1;MFAP4,downstream_gene_variant,,ENST00000497081,;MFAP4,downstream_gene_variant,,ENST00000299610,NM_002404.2;B9D1,upstream_gene_variant,,ENST00000477478,;B9D1,upstream_gene_variant,,ENST00000575403,NM_001243475.1;MAPK7,downstream_gene_variant,,ENST00000443215,;MAPK7,downstream_gene_variant,,ENST00000482850,;MAPK7,downstream_gene_variant,,ENST00000579284,;MAPK7,downstream_gene_variant,,ENST00000603493,;B9D1,upstream_gene_variant,,ENST00000487415,;MAPK7,intron_variant,,ENST00000571657,;MFAP4,downstream_gene_variant,,ENST00000574313,;MAPK7,downstream_gene_variant,,ENST00000572968,;MAPK7,downstream_gene_variant,,ENST00000573417,;B9D1,upstream_gene_variant,,ENST00000468679,;MAPK7,non_coding_transcript_exon_variant,,ENST00000570306,;MAPK7,non_coding_transcript_exon_variant,,ENST00000490660,;MFAP4,downstream_gene_variant,,ENST00000571210,;B9D1,upstream_gene_variant,,ENST00000476298,;MAPK7,downstream_gene_variant,,ENST00000572716,;MAPK7,downstream_gene_variant,,ENST00000581260,;MAPK7,downstream_gene_variant,,ENST00000573466,;MAPK7,downstream_gene_variant,,ENST00000486905,;MAPK7,downstream_gene_variant,,ENST00000572853,;	C	ENST00000308406	Transcript	missense_variant	2284/3149	1898/2451	633/816	C/S	tGc/tCc		1		1	MAPK7	HGNC	HGNC:6880	protein_coding	YES	CCDS11206.1	ENSP00000311005	Q13164	A0A024QZ20	UPI000006FED0	NM_139033.2	tolerated(0.64)		5/7		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	73	19382201	19382201	G	C	1	0	0	0	0	1	0	0	0	9206	1319	46	4		4	MAPK7	17	19382201	Missense_Mutation	SNP	G	C3N-01074_TP	6637890	19382201	63875240	404	23841											
NF1	0	.	GRCh38	chr17	31235771	31235771	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataatgacattctgtttcaAggtttgtatcattcattttg	11	19	6	5	0	4	1	3	1	1	0	4	1	4	1	0	1	0	3	0	1	4	8	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.3869A>T	p.Lys1290Met	p.K1290M	ENST00000358273	28/58	502	349	153	516	516	0	strelka-varscan-mutect	NF1,missense_variant,p.Lys1290Met,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Lys1290Met,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Lys956Met,ENST00000456735,;NF1,missense_variant,p.Lys1324Met,ENST00000579081,;NF1,missense_variant,p.Lys116Met,ENST00000466819,;NF1,missense_variant,p.Lys116Met,ENST00000479614,;NF1,splice_region_variant,,ENST00000495910,;NF1,splice_region_variant,,ENST00000493220,;	T	ENST00000358273	Transcript	missense_variant,splice_region_variant	4252/12425	3869/8520	1290/2839	K/M	aAg/aTg		1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2	deleterious(0)		28/58		Gene3D:1.10.494.10,PROSITE_profiles:PS50018,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF90,SMART_domains:SM00323,Superfamily_domains:SSF48350																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	31235771	31235771	A	T	1	0	0	0	0	1	0	0	0	10393	86	3	4		4	NF1	17	31235771	Missense_Mutation	SNP	A	C3N-01074_TP	11853570	31235771	52021670	405	23842											
TMEM132E	0	.	GRCh38	chr17	34638153	34638153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgggttggggctgccCggatgtggcgggccccacgc	3	6	19	13	3	0	0	0	0	0	0	0	2	0	2	4	7	1	2	4	7	0	1	rs368990611		C3N-01074_TP	C3N-01074_NB	C	C																c.2876C>A	p.Pro959Gln	p.P959Q	ENST00000321639	10/10	168	141	27	147	147	0	strelka-varscan-mutect	TMEM132E,missense_variant,p.Pro1049Gln,ENST00000631683,NM_001304438.1;TMEM132E,missense_variant,p.Pro959Gln,ENST00000321639,;TMEM132E,downstream_gene_variant,,ENST00000577271,;	A	ENST00000321639	Transcript	missense_variant	3204/4369	2876/2955	959/984	P/Q	cCg/cAg	rs368990611	1		1	TMEM132E	HGNC	HGNC:26991	protein_coding	YES		ENSP00000316532	Q6IEE7		UPI000035960F		tolerated(1)		10/10		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF7																	MODERATE	1	SNV	5			1										PASS		rs368990611	.												A	3	1	73	34638153	34638153	C	A	1	0	0	0	0	1	0	0	0	16493	652	23	1		1	TMEM132E	17	34638153	Missense_Mutation	SNP	C	C3N-01074_TP	3402382	34638153	48619288	406	23843											
MRM1	0	.	GRCh38	chr17	36607714	36607714	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggccggcacggtgggctgCccaagcacagaggatcccca	8	4	15	14	2	0	1	0	0	0	1	1	2	1	2	4	5	2	3	4	5	1	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.681C>T	p.=	p.C227C	ENST00000614766	3/5	251	178	73	191	191	0	strelka-varscan-mutect	MRM1,synonymous_variant,p.=,ENST00000614766,NM_024864.4;MRM1,synonymous_variant,p.=,ENST00000612760,;	T	ENST00000614766	Transcript	synonymous_variant	920/1857	681/1062	227/353	C	tgC/tgT		1		1	MRM1	HGNC	HGNC:26202	protein_coding	YES	CCDS32631.1	ENSP00000481559	Q6IN84		UPI000004B637	NM_024864.4			3/5		hmmpanther:PTHR12029,hmmpanther:PTHR12029:SF58,Pfam_domain:PF00588,Gene3D:3.40.1280.10,TIGRFAM_domain:TIGR00186,Superfamily_domains:SSF75217																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	73	36607714	36607714	C	T	1	0	0	0	0	0	0	0	1	9739	747	26	3		3	MRM1	17	36607714	Silent	SNP	C	C3N-01074_TP	1969561	36607714	46649727	407	23844											
PGAP3	0	.	GRCh38	chr17	39673256	39673256	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaccacgttgaccaggcCtgggtgccagtgggggcagg	7	5	16	13	1	0	1	0	1	0	0	0	1	0	1	5	5	1	2	5	5	0	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.695-1G>T		p.X232_splice	ENST00000300658		173	102	71	160	160	0	strelka-varscan-mutect	PGAP3,splice_acceptor_variant,,ENST00000300658,NM_033419.4;PGAP3,splice_acceptor_variant,,ENST00000378011,NM_001291726.1;PGAP3,splice_acceptor_variant,,ENST00000619169,;PGAP3,splice_acceptor_variant,,ENST00000429199,NM_001291728.1;PGAP3,intron_variant,,ENST00000579146,NM_001291733.1;PNMT,downstream_gene_variant,,ENST00000269582,NM_002686.4;PNMT,downstream_gene_variant,,ENST00000394246,;PNMT,downstream_gene_variant,,ENST00000581428,;PGAP3,splice_acceptor_variant,,ENST00000309862,;PGAP3,splice_acceptor_variant,,ENST00000577337,;PGAP3,downstream_gene_variant,,ENST00000584620,;PGAP3,downstream_gene_variant,,ENST00000580898,;PGAP3,downstream_gene_variant,,ENST00000582276,;	A	ENST00000300658	Transcript	splice_acceptor_variant	-/2737	695/963	232/320				1		-1	PGAP3	HGNC	HGNC:23719	protein_coding	YES	CCDS32641.1	ENSP00000300658	Q96FM1		UPI0000039EAA	NM_033419.4				6/7																		HIGH	1	SNV	1			1										PASS		rs1426093227	.												A	5	1	73	39673256	39673256	C	A	1	0	0	0	0	0	0	1	0	11869	695	24	2		2	PGAP3	17	39673256	Splice_Site	SNP	C	C3N-01074_TP	3065542	39673256	43584185	408	23845											
KRTAP2-1	0	.	GRCh38	chr17	41047019	41047019	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacaccacagccgtgcaCgacgaggggcagcaggtgat	10	4	14	13	3	0	1	0	1	0	0	0	3	0	1	2	3	4	4	2	3	0	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.249G>T	p.=	p.S83S	ENST00000391419	1/1	68	58	10	100	100	0	strelka-varscan-mutect	KRTAP2-1,synonymous_variant,p.=,ENST00000391419,NM_001123387.1;KRTAP2-1,synonymous_variant,p.=,ENST00000542137,;	A	ENST00000391419	Transcript	synonymous_variant	298/776	249/387	83/128	S	tcG/tcT		1		-1	KRTAP2-1	HGNC	HGNC:16775	protein_coding	YES	CCDS42325.1	ENSP00000375238	Q9BYU5		UPI00001606E4	NM_001123387.1			1/1		hmmpanther:PTHR23262:SF6,hmmpanther:PTHR23262																	LOW	1	SNV				1										PASS		rs1414077631	.												A	2	1	73	41047019	41047019	C	A	1	0	0	0	0	0	0	0	1	8420	523	19	1		1	KRTAP2-1	17	41047019	Silent	SNP	C	C3N-01074_TP	1373763	41047019	42210422	409	23846											
KRT34	0	.	GRCh38	chr17	41382045	41382045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccttctccaggtagctggCcaggcggtcgttcaggaact	7	9	12	13	2	2	0	1	0	1	0	4	1	2	1	3	5	2	3	3	5	2	3	rs781546162		C3N-01074_TP	C3N-01074_NB	C	C																c.328G>A	p.Ala110Thr	p.A110T	ENST00000394001	1/7	590	390	200	597	596	1	strelka-varscan-mutect	KRT34,missense_variant,p.Ala110Thr,ENST00000394001,NM_021013.3;	T	ENST00000394001	Transcript	missense_variant	359/1751	328/1311	110/436	A/T	Gcc/Acc	rs781546162,COSM4923265	1		-1	KRT34	HGNC	HGNC:6452	protein_coding	YES	CCDS11390.1	ENSP00000377570	O76011		UPI000013CD0C	NM_021013.3	deleterious(0.01)		1/7		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF165,SMART_domains:SM01391,Superfamily_domains:SSF64593											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs781546162	.												T	3	4	73	41382045	41382045	C	T	1	0	0	0	0	1	0	0	0	8353	739	26	3		3	KRT34	17	41382045	Missense_Mutation	SNP	C	C3N-01074_TP	335026	41382045	41875396	410	23847											
KRT38	0	.	GRCh38	chr17	41440879	41440879	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctccaggagccatggTgcaacccagagggcatgagg	9	7	14	11	0	1	2	0	1	1	1	2	3	2	3	3	4	4	3	3	4	1	1	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.43A>T	p.Thr15Ser	p.T15S	ENST00000246646	1/7	37	25	12	60	60	0	strelka-varscan-mutect	KRT38,missense_variant,p.Thr15Ser,ENST00000246646,NM_006771.3;	A	ENST00000246646	Transcript	missense_variant	43/2337	43/1371	15/456	T/S	Acc/Tcc		1		-1	KRT38	HGNC	HGNC:6456	protein_coding	YES	CCDS11392.1	ENSP00000246646	O76015		UPI000013CBF9	NM_006771.3	tolerated(1)		1/7		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF166																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	41440879	41440879	T	A	1	0	0	0	0	1	0	0	0	8357	1696	59	4		4	KRT38	17	41440879	Missense_Mutation	SNP	T	C3N-01074_TP	58834	41440879	41816562	411	23848											
KRT36	0	.	GRCh38	chr17	41488302	41488302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagggactccacctgagcctCcaggtcagccttgcacaggg	8	6	12	15	0	1	1	1	1	0	0	3	2	3	2	5	3	3	1	5	3	0	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.640G>A	p.Glu214Lys	p.E214K	ENST00000328119	3/7	226	149	77	203	203	0	strelka-varscan-mutect	KRT36,missense_variant,p.Glu164Lys,ENST00000393986,;KRT36,missense_variant,p.Glu214Lys,ENST00000328119,NM_003771.4;	T	ENST00000328119	Transcript	missense_variant	640/1644	640/1404	214/467	E/K	Gag/Aag		1		-1	KRT36	HGNC	HGNC:6454	protein_coding	YES	CCDS11395.1	ENSP00000329165	O76013		UPI000012DAFA	NM_003771.4	deleterious(0)		3/7		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,Prints_domain:PR01248,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF193,SMART_domains:SM01391,Superfamily_domains:SSF46579																	MODERATE	1	SNV	2			1										PASS		rs1404257939	.												T	3	4	73	41488302	41488302	C	T	1	0	0	0	0	1	0	0	0	8355	864	30	3		3	KRT36	17	41488302	Missense_Mutation	SNP	C	C3N-01074_TP	47423	41488302	41769139	412	23849											
CRHR1	0	.	GRCh38	chr17	45834704	45834704	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtggcccgtgccatgtcCatccccacctccccaacccg	6	6	8	21	3	0	0	0	0	0	0	3	1	3	0	9	1	2	0	9	1	1	0	rs551094849		C3N-01074_TP	C3N-01074_NB	C	C																c.663C>A	p.=	p.S221S	ENST00000634540	15/15	246	159	87	200	200	0	strelka-varscan-mutect	CRHR1,synonymous_variant,p.=,ENST00000634540,NM_001256299.2,NM_001303018.1;CRHR1,synonymous_variant,p.=,ENST00000293493,;CRHR1,synonymous_variant,p.=,ENST00000314537,NM_004382.4;CRHR1,synonymous_variant,p.=,ENST00000339069,NM_001303016.1,NM_001303020.1;CRHR1,synonymous_variant,p.=,ENST00000398285,NM_001145146.1;CRHR1,synonymous_variant,p.=,ENST00000577353,NM_001145148.1;CRHR1,synonymous_variant,p.=,ENST00000352855,NM_001145147.1;CRHR1,3_prime_UTR_variant,,ENST00000619154,;CRHR1,downstream_gene_variant,,ENST00000580876,;MAPT-AS1,intron_variant,,ENST00000634876,;CRHR1,3_prime_UTR_variant,,ENST00000347197,;CRHR1,3_prime_UTR_variant,,ENST00000535778,;CRHR1,3_prime_UTR_variant,,ENST00000583888,;CRHR1,downstream_gene_variant,,ENST00000582766,;CRHR1,downstream_gene_variant,,ENST00000581479,;CRHR1,downstream_gene_variant,,ENST00000580955,;	A	ENST00000634540	Transcript	synonymous_variant	1573/2695	663/723	221/240	S	tcC/tcA	rs551094849	1		1	CRHR1	EntrezGene	HGNC:2357	protein_coding	YES		ENSP00000488912		A0A024R9X9	UPI0000D4A34F	NM_001256299.2,NM_001303018.1			15/15		Prints_domain:PR01279,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF175																	LOW		SNV	2			1										PASS		rs551094849	.												A	2	1	73	45834704	45834704	C	A	1	0	0	0	0	0	0	0	1	3672	581	21	2		2	CRHR1	17	45834704	Silent	SNP	C	C3N-01074_TP	4346402	45834704	37422737	413	23850											
SPPL2C	0	.	GRCh38	chr17	45845663	45845663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatcccagtggacttcacgCcggccatgacaggcgtggtg	8	7	13	13	3	1	1	1	1	0	0	2	2	2	2	3	4	0	0	3	4	0	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.757C>A	p.Pro253Thr	p.P253T	ENST00000329196	1/1	255	197	58	246	245	1	strelka-varscan-mutect	SPPL2C,missense_variant,p.Pro253Thr,ENST00000329196,NM_175882.2;MAPT-AS1,intron_variant,,ENST00000634876,;MAPT-AS1,intron_variant,,ENST00000579599,;MAPT-AS1,intron_variant,,ENST00000579244,;MAPT-AS1,upstream_gene_variant,,ENST00000581125,;	A	ENST00000329196	Transcript	missense_variant	829/2238	757/2055	253/684	P/T	Ccg/Acg		1		1	SPPL2C	HGNC	HGNC:28902	protein_coding	YES	CCDS32673.1	ENSP00000332488	Q8IUH8		UPI0000EE80B4	NM_175882.2	deleterious(0.01)		1/1		Pfam_domain:PF04258,hmmpanther:PTHR12174,hmmpanther:PTHR12174:SF38,SMART_domains:SM00730,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												A	3	1	73	45845663	45845663	C	A	1	0	0	0	0	1	0	0	0	15443	739	26	2		2	SPPL2C	17	45845663	Missense_Mutation	SNP	C	C3N-01074_TP	10959	45845663	37411778	414	23851											
ACSF2	0	.	GRCh38	chr17	50460735	50460735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggcctcagctacgttcagGggtgcaccaaaaagcatctt	11	8	11	11	1	3	0	2	0	1	0	3	1	3	0	2	3	4	4	2	3	3	3	rs757956148		C3N-01074_TP	C3N-01074_NB	G	G																c.262G>T	p.Gly88Trp	p.G88W	ENST00000427954	3/17	328	226	102	207	204	3	strelka-varscan-mutect	ACSF2,missense_variant,p.Gly88Trp,ENST00000427954,NM_001288968.1;ACSF2,missense_variant,p.Gly63Trp,ENST00000300441,NM_025149.5;ACSF2,missense_variant,p.Gly63Trp,ENST00000502667,NM_001288969.1;ACSF2,missense_variant,p.Gly63Trp,ENST00000504392,NM_001288972.1,NM_001288970.1,NM_001288971.1;ACSF2,missense_variant,p.Gly63Trp,ENST00000506582,;CHAD,downstream_gene_variant,,ENST00000508540,NM_001267.2;CHAD,downstream_gene_variant,,ENST00000258969,;CHAD,downstream_gene_variant,,ENST00000506187,;ACSF2,upstream_gene_variant,,ENST00000509806,;ACSF2,3_prime_UTR_variant,,ENST00000503408,;ACSF2,non_coding_transcript_exon_variant,,ENST00000504945,;ACSF2,non_coding_transcript_exon_variant,,ENST00000570356,;ACSF2,intron_variant,,ENST00000510410,;ACSF2,upstream_gene_variant,,ENST00000506052,;ACSF2,upstream_gene_variant,,ENST00000508245,;ACSF2,upstream_gene_variant,,ENST00000507769,;ACSF2,upstream_gene_variant,,ENST00000513101,;ACSF2,upstream_gene_variant,,ENST00000510262,;	T	ENST00000427954	Transcript	missense_variant	305/2251	262/1923	88/640	G/W	Ggg/Tgg	rs757956148	1		1	ACSF2	HGNC	HGNC:26101	protein_coding	YES	CCDS74103.1	ENSP00000401831	Q96CM8		UPI00017A6F63	NM_001288968.1	deleterious(0)		3/17		hmmpanther:PTHR24095																	MODERATE		SNV	2			1										PASS		rs757956148	.												T	3	4	73	50460735	50460735	G	T	1	0	0	0	0	1	0	0	0	217	1232	43	2		2	ACSF2	17	50460735	Missense_Mutation	SNP	G	C3N-01074_TP	4615072	50460735	32796706	415	23852											
KIF2B	0	.	GRCh38	chr17	53824962	53824962	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattgcccggtctttgtcCattttggagcagaaaattga	9	14	10	8	1	1	2	0	1	1	1	2	3	2	3	2	2	3	2	2	2	2	5	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1929C>G	p.=	p.S643S	ENST00000268919	1/1	275	233	42	292	292	0	strelka-varscan-mutect	KIF2B,synonymous_variant,p.=,ENST00000268919,NM_032559.4;	G	ENST00000268919	Transcript	synonymous_variant	2062/2313	1929/2022	643/673	S	tcC/tcG		1		1	KIF2B	HGNC	HGNC:29443	protein_coding	YES	CCDS32685.1	ENSP00000268919	Q8N4N8	A0A140VKG5	UPI000013D7E6	NM_032559.4			1/1		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF524																	LOW	1	SNV				1										PASS		.	.												G	2	3	73	53824962	53824962	C	G	1	0	0	0	0	0	0	0	1	8163	581	21	4		4	KIF2B	17	53824962	Silent	SNP	C	C3N-01074_TP	3364227	53824962	29432479	416	23853											
OR4D2	0	.	GRCh38	chr17	58170031	58170031	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgaccgcctcattgccAtctcccggcccctccgctat	4	11	6	20	3	2	1	1	1	1	0	4	1	3	1	8	1	1	1	8	1	1	3	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.376A>T	p.Ile126Phe	p.I126F	ENST00000545221	1/1	709	459	250	651	650	1	strelka-varscan-mutect	OR4D2,missense_variant,p.Ile126Phe,ENST00000545221,NM_001004707.3;	T	ENST00000545221	Transcript	missense_variant	376/924	376/924	126/307	I/F	Atc/Ttc		1		1	OR4D2	HGNC	HGNC:8294	protein_coding	YES	CCDS32688.1	ENSP00000441354	P58180	A0A126GWK0	UPI0000000DB3	NM_001004707.3	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF348,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	73	58170031	58170031	A	T	1	0	0	0	0	1	0	0	0	11133	217	8	4		4	OR4D2	17	58170031	Missense_Mutation	SNP	A	C3N-01074_TP	4345069	58170031	25087410	417	23854											
TEX14	0	.	GRCh38	chr17	58622909	58622909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggttttgacccctctcatCgtggagtcgcaggtcacctc	5	11	11	14	3	2	1	2	1	1	0	6	2	2	2	3	3	0	2	3	3	0	2	rs145427452		C3N-01074_TP	C3N-01074_NB	C	C																c.355G>T	p.Asp119Tyr	p.D119Y	ENST00000240361	4/33	121	83	38	94	94	0	strelka-varscan-mutect	TEX14,missense_variant,p.Asp119Tyr,ENST00000389934,NM_198393.3;TEX14,missense_variant,p.Asp119Tyr,ENST00000240361,NM_001201457.1;TEX14,missense_variant,p.Asp119Tyr,ENST00000349033,NM_031272.4;TEX14,3_prime_UTR_variant,,ENST00000582740,;	A	ENST00000240361	Transcript	missense_variant	441/4911	355/4494	119/1497	D/Y	Gat/Tat	rs145427452	1		-1	TEX14	HGNC	HGNC:11737	protein_coding	YES	CCDS56042.1	ENSP00000240361	Q8IWB6		UPI0000DAC9CA	NM_001201457.1	deleterious(0)		4/33		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR23060,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs145427452	.												A	3	1	73	58622909	58622909	C	A	1	0	0	0	0	1	0	0	0	16200	884	31	1		1	TEX14	17	58622909	Missense_Mutation	SNP	C	C3N-01074_TP	452878	58622909	24634532	418	23855											
PSMD12	0	.	GRCh38	chr17	67344739	67344739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctcaacaagtgtggacCaacgcatcaactccattgtg	12	9	8	12	1	2	0	2	0	0	0	4	1	4	1	3	1	3	1	3	1	4	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.950G>C	p.Trp317Ser	p.W317S	ENST00000356126	9/11	126	117	9	118	118	0	varscan-mutect	PSMD12,missense_variant,p.Trp317Ser,ENST00000356126,NM_002816.3;PSMD12,missense_variant,p.Trp297Ser,ENST00000357146,NM_174871.2;PSMD12,3_prime_UTR_variant,,ENST00000584008,;PSMD12,downstream_gene_variant,,ENST00000584289,;PSMD12,upstream_gene_variant,,ENST00000577724,;	G	ENST00000356126	Transcript	missense_variant	1058/4406	950/1371	317/456	W/S	tGg/tCg		1		-1	PSMD12	HGNC	HGNC:9557	protein_coding	YES	CCDS11669.1	ENSP00000348442	O00232	A0A0S2Z489	UPI0000132792	NM_002816.3	deleterious(0)		9/11		Pfam_domain:PF01399,hmmpanther:PTHR10855,hmmpanther:PTHR10855:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	73	67344739	67344739	C	G	1	0	0	0	0	1	0	0	0	12846	595	21	4		4	PSMD12	17	67344739	Missense_Mutation	SNP	C	C3N-01074_TP	8721830	67344739	15912702	419	23856											
BTBD17	0	.	GRCh38	chr17	74360194	74360194	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcgctggagcaccgcctggGagtggttgatggaggtgcca	7	7	18	9	2	0	1	0	1	0	0	0	4	0	4	3	5	3	3	3	5	0	1			C3N-01074_TP	C3N-01074_NB	G	G																c.137C>G	p.Ser46Cys	p.S46C	ENST00000375366	2/3	144	109	35	145	145	0	strelka-varscan-mutect	BTBD17,missense_variant,p.Ser46Cys,ENST00000375366,NM_001080466.1;KIF19,downstream_gene_variant,,ENST00000389916,NM_153209.3;	C	ENST00000375366	Transcript	missense_variant	264/1805	137/1437	46/478	S/C	tCc/tGc	COSM5578141	1		-1	BTBD17	HGNC	HGNC:33758	protein_coding	YES	CCDS32719.1	ENSP00000364515	A6NE02		UPI00001D7961	NM_001080466.1	deleterious(0)		2/3		hmmpanther:PTHR24410:SF12,hmmpanther:PTHR24410,Gene3D:3.30.710.10,Superfamily_domains:SSF54695											1						MODERATE	1	SNV	2		1	1										PASS		rs1421201540	.												C	3	2	73	74360194	74360194	G	C	1	0	0	0	0	1	0	0	0	1716	1174	41	4		4	BTBD17	17	74360194	Missense_Mutation	SNP	G	C3N-01074_TP	7015455	74360194	8897247	420	23857											
CDR2L	0	.	GRCh38	chr17	75003844	75003844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccggcgtgcagacctcgCgccccatctcccgggacagc	6	4	12	19	6	1	1	0	0	1	1	3	2	1	2	5	2	2	1	5	2	0	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1168C>T	p.Arg390Cys	p.R390C	ENST00000337231	5/5	132	108	24	133	133	0	varscan-mutect	CDR2L,missense_variant,p.Arg390Cys,ENST00000337231,NM_014603.2;	T	ENST00000337231	Transcript	missense_variant	1580/3536	1168/1398	390/465	R/C	Cgc/Tgc		1		1	CDR2L	HGNC	HGNC:29999	protein_coding	YES	CCDS11710.2	ENSP00000336587	Q86X02	A0A024R8R6	UPI00005AE46D	NM_014603.2	deleterious(0)		5/5		hmmpanther:PTHR19232:SF10,hmmpanther:PTHR19232																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	75003844	75003844	C	T	1	0	0	0	0	1	0	0	0	2878	768	27	1		1	CDR2L	17	75003844	Missense_Mutation	SNP	C	C3N-01074_TP	643650	75003844	8253597	421	23858											
BAHCC1	0	.	GRCh38	chr17	81443235	81443235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcctgcgccgccggacgAggtctcagccatgaagaacc	9	5	12	15	4	1	2	1	1	1	1	2	4	1	3	5	2	4	0	5	2	2	0	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.1886A>G	p.Glu629Gly	p.E629G	ENST00000584436	5/29	256	206	50	258	258	0	strelka-varscan-mutect	BAHCC1,missense_variant,p.Glu629Gly,ENST00000584436,NM_001291324.1;BAHCC1,missense_variant,p.Glu629Gly,ENST00000307745,;BAHCC1,upstream_gene_variant,,ENST00000585224,;	G	ENST00000584436	Transcript	missense_variant	2253/10801	1886/7920	629/2639	E/G	gAg/gGg		1		1	BAHCC1	HGNC	HGNC:29279	protein_coding	YES	CCDS74173.1	ENSP00000462154		A0A075B747	UPI0003EAE637	NM_001291324.1	deleterious(0.02)		5/29		hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	73	81443235	81443235	A	G	1	0	0	0	0	1	0	0	0	1451	304	11	5		5	BAHCC1	17	81443235	Missense_Mutation	SNP	A	C3N-01074_TP	6439391	81443235	1814206	422	23859											
ACTG1	0	.	GRCh38	chr17	81510936	81510936	+	Frame_Shift_Del	DEL	C	C	-																															cctcgactcaccttgatcttCatggtgctgggcgccagggc																								novel		C3N-01074_TP	C3N-01074_NB	C	C																c.975delG	p.Met325IlefsTer65	p.M325Ifs*65	ENST00000575842	4/5	453	410	43	499	499	0	sindel-varindel-pindel	ACTG1,frameshift_variant,p.Met325IlefsTer65,ENST00000575842,;ACTG1,frameshift_variant,p.Met325IlefsTer65,ENST00000573283,NM_001199954.1;ACTG1,frameshift_variant,p.Met325IlefsTer65,ENST00000575087,;ACTG1,frameshift_variant,p.Met325IlefsTer65,ENST00000331925,NM_001614.3;ACTG1,frameshift_variant,p.Met325IlefsTer65,ENST00000615544,;ACTG1,downstream_gene_variant,,ENST00000575994,;ACTG1,downstream_gene_variant,,ENST00000571721,;ACTG1,downstream_gene_variant,,ENST00000571691,;ACTG1,downstream_gene_variant,,ENST00000575659,;ACTG1,downstream_gene_variant,,ENST00000570382,;RP13-766D20.2,upstream_gene_variant,,ENST00000430912,;ACTG1,frameshift_variant,p.Met325IlefsTer65,ENST00000576544,;ACTG1,3_prime_UTR_variant,,ENST00000572105,;ACTG1,non_coding_transcript_exon_variant,,ENST00000576917,;ACTG1,non_coding_transcript_exon_variant,,ENST00000576209,;ACTG1,non_coding_transcript_exon_variant,,ENST00000574671,;ACTG1,downstream_gene_variant,,ENST00000576214,;RP13-766D20.1,upstream_gene_variant,,ENST00000448147,;	-	ENST00000575842	Transcript	frameshift_variant	1402/2256	975/1128	325/375	M/X	atG/at		1		-1	ACTG1	HGNC	HGNC:144	protein_coding	YES	CCDS11782.1	ENSP00000458162	P63261		UPI0000000C38				4/5		hmmpanther:PTHR11937:SF244,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	73	81510936	81510936	C	-	1	0	1	0	1	0	0	0	0	239	826	29	0		0	ACTG1	17	81510936	Frame_Shift_Del	DEL	C	C3N-01074_TP	67701	81510936	1746505	423	23860											
SMCHD1	0	.	GRCh38	chr18	2707561	2707561	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatgctggtttcataacAggctccctgatagattgtca	11	14	8	8	0	2	2	2	1	0	1	3	2	3	2	1	2	2	3	1	2	4	6	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.2064-2A>C		p.X688_splice	ENST00000320876		151	100	51	154	153	1	strelka-varscan-mutect	SMCHD1,splice_acceptor_variant,,ENST00000320876,NM_015295.2;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,splice_acceptor_variant,,ENST00000577880,;SMCHD1,splice_acceptor_variant,,ENST00000584897,;SMCHD1,non_coding_transcript_exon_variant,,ENST00000581711,;SMCHD1,downstream_gene_variant,,ENST00000577300,;	C	ENST00000320876	Transcript	splice_acceptor_variant	-/8821	2064/6018	688/2005				1		1	SMCHD1	HGNC	HGNC:29090	protein_coding	YES	CCDS45822.1	ENSP00000326603	A6NHR9		UPI00001D7AAD	NM_015295.2				15/47																		HIGH		SNV	5			1										PASS		.	.												C	5	2	73	2707561	2707561	A	C	1	0	0	0	0	0	0	1	0	15081	202	7	5		5	SMCHD1	18	2707561	Splice_Site	SNP	A	C3N-01074_TP		2707561	77665724	424	23861											
PPP4R1	0	.	GRCh38	chr18	9550051	9550051	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taagcccagggcctcgcttaCctggcagacaaagacaaagg	13	5	11	12	1	0	2	0	0	0	2	1	2	0	2	3	3	2	2	3	3	4	2			C3N-01074_TP	C3N-01074_NB	C	C																c.2547+1G>T		p.X849_splice	ENST00000400556		241	166	75	239	238	1	strelka-varscan-mutect	PPP4R1,splice_donor_variant,,ENST00000400556,NM_001042388.2;PPP4R1,splice_donor_variant,,ENST00000400555,NM_005134.3;PPP4R1,splice_donor_variant,,ENST00000579609,;PPP4R1,downstream_gene_variant,,ENST00000584754,;PPP4R1,splice_donor_variant,,ENST00000582594,;PPP4R1,splice_donor_variant,,ENST00000285124,;PPP4R1,splice_donor_variant,,ENST00000578329,;PPP4R1,non_coding_transcript_exon_variant,,ENST00000578010,;	A	ENST00000400556	Transcript	splice_donor_variant	-/3925	2547/2853	849/950			COSM564310	1		-1	PPP4R1	HGNC	HGNC:9320	protein_coding	YES	CCDS42412.1	ENSP00000383402	Q8TF05		UPI000006D6DE	NM_001042388.2				18/19												1						HIGH	1	SNV	1		1	1										PASS		.	.												A	5	1	73	9550051	9550051	C	A	1	0	0	0	0	0	0	1	0	12525	521	18	2		2	PPP4R1	18	9550051	Splice_Site	SNP	C	C3N-01074_TP	6842490	9550051	70823234	425	23862											
ROCK1	0	.	GRCh38	chr18	21045342	21045342	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatgcaagaactacttcTgcagtatagaatcgtgccca	13	10	7	11	1	1	2	0	0	1	2	3	2	2	2	2	0	5	3	2	0	7	4	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.540A>T	p.=	p.A180A	ENST00000399799	5/33	186	135	51	181	181	0	strelka-varscan-mutect	ROCK1,synonymous_variant,p.=,ENST00000399799,NM_005406.2;ROCK1,synonymous_variant,p.=,ENST00000635540,;ROCK1,non_coding_transcript_exon_variant,,ENST00000582445,;	A	ENST00000399799	Transcript	synonymous_variant	1481/9484	540/4065	180/1354	A	gcA/gcT		1		-1	ROCK1	HGNC	HGNC:10251	protein_coding	YES	CCDS11870.2	ENSP00000382697	Q13464		UPI000006F0A4	NM_005406.2			5/33		PROSITE_profiles:PS50011,hmmpanther:PTHR22988:SF33,hmmpanther:PTHR22988,PIRSF_domain:PIRSF037568,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	73	21045342	21045342	T	A	1	0	0	0	0	0	0	0	1	13695	1567	55	4		4	ROCK1	18	21045342	Silent	SNP	T	C3N-01074_TP	11495291	21045342	59327943	426	23863											
GREB1L	0	.	GRCh38	chr18	21401270	21401270	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagaagcacttaaagtactAcctagtcagaagctcccagg	14	7	9	11	0	1	2	1	0	0	2	2	2	2	2	2	1	4	4	2	1	7	4			C3N-01074_TP	C3N-01074_NB	A	A																c.653A>T	p.Tyr218Phe	p.Y218F	ENST00000580732	6/33	402	305	97	252	251	1	strelka-varscan-mutect	GREB1L,missense_variant,p.Tyr218Phe,ENST00000580732,;GREB1L,missense_variant,p.Tyr218Phe,ENST00000424526,NM_001142966.1;GREB1L,missense_variant,p.Tyr218Phe,ENST00000269218,;GREB1L,missense_variant,p.Tyr16Phe,ENST00000579454,;RP11-296E23.1,intron_variant,,ENST00000584611,;GREB1L,non_coding_transcript_exon_variant,,ENST00000578368,;GREB1L,non_coding_transcript_exon_variant,,ENST00000584446,;	T	ENST00000580732	Transcript	missense_variant	1034/8749	653/5772	218/1923	Y/F	tAc/tTc	COSM2884839,COSM2884840	1		1	GREB1L	HGNC	HGNC:31042	protein_coding	YES	CCDS45836.1	ENSP00000464162	Q9C091		UPI0001642876		deleterious(0.02)		6/33		Pfam_domain:PF15782,hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF12											1,1						MODERATE		SNV	5		1,1	1										PASS		.	.												T	3	4	73	21401270	21401270	A	T	1	0	0	0	0	1	0	0	0	6640	391	14	4		4	GREB1L	18	21401270	Missense_Mutation	SNP	A	C3N-01074_TP	355928	21401270	58972015	427	23864											
CTAGE1	0	.	GRCh38	chr18	22415876	22415876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcggggagagatgaatCaggcacctttaaattaccaa	14	9	10	8	1	2	2	2	1	0	1	2	4	2	3	2	3	2	1	2	3	5	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1936G>T	p.Asp646Tyr	p.D646Y	ENST00000391403	1/1	772	553	219	741	739	2	strelka-varscan-mutect	CTAGE1,missense_variant,p.Asp646Tyr,ENST00000391403,NM_172241.2;CTAGE1,upstream_gene_variant,,ENST00000525417,;RP11-863N1.4,downstream_gene_variant,,ENST00000603437,;	A	ENST00000391403	Transcript	missense_variant	2040/4313	1936/2238	646/745	D/Y	Gat/Tat		1		-1	CTAGE1	HGNC	HGNC:24346	protein_coding	YES	CCDS45837.1	ENSP00000375220	Q96RT6		UPI00000721F4	NM_172241.2	deleterious(0)		1/1		hmmpanther:PTHR23158:SF39,hmmpanther:PTHR23158																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	73	22415876	22415876	C	A	1	0	0	0	0	1	0	0	0	3796	826	29	2		2	CTAGE1	18	22415876	Missense_Mutation	SNP	C	C3N-01074_TP	1014606	22415876	57957409	428	23865											
DSG4	0	.	GRCh38	chr18	31411115	31411115	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctctctttgtcagcttttTagcgcctacgccttgccggg	4	15	9	13	3	3	0	1	0	2	0	4	0	3	0	3	1	4	1	3	1	2	6	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.2079T>A	p.Phe693Leu	p.F693L	ENST00000359747	14/15	107	72	35	125	125	0	strelka-varscan-mutect	DSG4,missense_variant,p.Phe693Leu,ENST00000359747,NM_001134453.1;DSG4,intron_variant,,ENST00000308128,NM_177986.3;DSG1-AS1,intron_variant,,ENST00000581856,;DSG1-AS1,intron_variant,,ENST00000578477,;	A	ENST00000359747	Transcript	missense_variant	2108/4526	2079/3180	693/1059	F/L	ttT/ttA		1		1	DSG4	HGNC	HGNC:21307	protein_coding	YES	CCDS45845.1	ENSP00000352785	Q86SJ6		UPI000035DB4E	NM_001134453.1	deleterious(0.05)		14/15		hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	31411115	31411115	T	A	1	0	0	0	0	1	0	0	0	4600	1768	61	4		4	DSG4	18	31411115	Missense_Mutation	SNP	T	C3N-01074_TP	8995239	31411115	48962170	429	23866											
MOCOS	0	.	GRCh38	chr18	36199738	36199738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactgtgatcttcactgccGggagcacggctgctctcaaa	9	9	10	13	2	3	1	2	1	2	0	4	2	3	2	1	2	3	3	1	2	1	1	rs367827518		C3N-01074_TP	C3N-01074_NB	G	G																c.355G>T	p.Gly119Trp	p.G119W	ENST00000261326	4/15	332	228	104	275	274	1	strelka-varscan-mutect	MOCOS,missense_variant,p.Gly119Trp,ENST00000261326,NM_017947.2;	T	ENST00000261326	Transcript	missense_variant	376/6160	355/2667	119/888	G/W	Ggg/Tgg	rs367827518	1		1	MOCOS	HGNC	HGNC:18234	protein_coding	YES	CCDS11919.1	ENSP00000261326	Q96EN8		UPI000013D165	NM_017947.2	deleterious(0)		4/15		Gene3D:3.40.640.10,HAMAP:MF_03050,Pfam_domain:PF00266,hmmpanther:PTHR14237,hmmpanther:PTHR14237:SF19,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		rs367827518	.												T	3	4	73	36199738	36199738	G	T	1	0	0	0	0	1	0	0	0	9652	1116	39	1		1	MOCOS	18	36199738	Missense_Mutation	SNP	G	C3N-01074_TP	4788623	36199738	44173547	430	23867											
EPG5	0	.	GRCh38	chr18	45852555	45852555	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccatcttgaaggcaatggCcaggatgccttataaattgg	11	11	10	9	0	1	1	0	1	1	0	2	2	2	2	3	4	1	1	3	4	5	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.7652G>T	p.Gly2551Val	p.G2551V	ENST00000282041	44/44	396	300	96	309	307	2	strelka-varscan-mutect	EPG5,missense_variant,p.Gly2551Val,ENST00000282041,NM_020964.2;EPG5,missense_variant,p.Gly477Val,ENST00000590854,;EPG5,downstream_gene_variant,,ENST00000587262,;	A	ENST00000282041	Transcript	missense_variant	7687/12633	7652/7740	2551/2579	G/V	gGc/gTc		1		-1	EPG5	HGNC	HGNC:29331	protein_coding	YES	CCDS11926.2	ENSP00000282041	Q9HCE0		UPI00004F6F8A	NM_020964.2	deleterious(0.04)		44/44		hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	73	45852555	45852555	C	A	1	0	0	0	0	1	0	0	0	5010	739	26	2		2	EPG5	18	45852555	Missense_Mutation	SNP	C	C3N-01074_TP	9652817	45852555	34520730	431	23868											
C18orf25	0	.	GRCh38	chr18	46216142	46216142	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccgagtttatgagagtGactcctctaatcactgcatg	9	12	10	10	1	2	2	1	2	1	1	3	4	3	2	2	1	1	2	2	1	2	3	rs866720576		C3N-01074_TP	C3N-01074_NB	G	G																c.262G>T	p.Asp88Tyr	p.D88Y	ENST00000615052	2/5	505	362	143	440	440	0	strelka-varscan-mutect	C18orf25,missense_variant,p.Asp88Tyr,ENST00000615052,NM_145055.3;C18orf25,missense_variant,p.Asp88Tyr,ENST00000619301,NM_001008239.2;C18orf25,missense_variant,p.Asp88Tyr,ENST00000615553,;C18orf25,missense_variant,p.Asp88Tyr,ENST00000587591,;C18orf25,intron_variant,,ENST00000588730,;C18orf25,non_coding_transcript_exon_variant,,ENST00000619230,;	T	ENST00000615052	Transcript	missense_variant	636/5462	262/1215	88/404	D/Y	Gac/Tac	rs866720576	1		1	C18orf25	HGNC	HGNC:28172	protein_coding	YES	CCDS42430.1	ENSP00000481626		Q5BIX2	UPI0000071DC1	NM_145055.3	deleterious(0)		2/5		hmmpanther:PTHR22763,hmmpanther:PTHR22763:SF56,Pfam_domain:PF15303																	MODERATE	1	SNV	5			1										PASS		rs866720576	.												T	3	4	73	46216142	46216142	G	T	1	0	0	0	0	1	0	0	0	1898	1290	45	2		2	C18orf25	18	46216142	Missense_Mutation	SNP	G	C3N-01074_TP	363587	46216142	34157143	432	23869											
LOXHD1	0	.	GRCh38	chr18	46577796	46577796	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccagccgctgccggagccTttgccatcgtgtctgatcct	5	11	10	15	3	1	1	0	1	1	0	3	2	2	2	6	1	5	1	6	1	1	2	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.1881A>T	p.Lys627Asn	p.K627N	ENST00000536736	14/40	398	295	103	274	274	0	strelka-varscan-mutect	LOXHD1,missense_variant,p.Lys627Asn,ENST00000536736,NM_144612.6;LOXHD1,missense_variant,p.Lys627Asn,ENST00000441551,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;	A	ENST00000536736	Transcript	missense_variant	1881/6848	1881/6636	627/2211	K/N	aaA/aaT		1		-1	LOXHD1	HGNC	HGNC:26521	protein_coding			ENSP00000444586		F5GZB4	UPI0001A595CE	NM_144612.6	tolerated(0.11)		14/40		Gene3D:2.60.60.20,Pfam_domain:PF01477,PROSITE_profiles:PS50095,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF137,SMART_domains:SM00308,Superfamily_domains:SSF49723																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	73	46577796	46577796	T	A	1	0	0	0	0	1	0	0	0	8801	1606	56	4		4	LOXHD1	18	46577796	Missense_Mutation	SNP	T	C3N-01074_TP	361654	46577796	33795489	433	23870											
CCDC68	0	.	GRCh38	chr18	54928825	54928825	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatatgtagcactggattTgagttgcagtagcttgtttt	8	17	10	6	0	0	1	0	1	0	0	1	2	1	2	1	1	3	7	1	1	3	8	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.658A>C	p.Lys220Gln	p.K220Q	ENST00000591504	8/12	286	206	80	257	257	0	strelka-varscan-mutect	CCDC68,missense_variant,p.Lys220Gln,ENST00000591504,NM_025214.2;CCDC68,missense_variant,p.Lys220Gln,ENST00000432185,;CCDC68,missense_variant,p.Lys220Gln,ENST00000337363,NM_001143829.1;CCDC68,missense_variant,p.Lys88Gln,ENST00000592040,;CCDC68,downstream_gene_variant,,ENST00000592294,;	G	ENST00000591504	Transcript	missense_variant	933/4132	658/1008	220/335	K/Q	Aaa/Caa		1		-1	CCDC68	HGNC	HGNC:24350	protein_coding	YES	CCDS11959.1	ENSP00000466690	Q9H2F9	A0A024R2B9	UPI00000435F1	NM_025214.2	tolerated(0.37)		8/12		hmmpanther:PTHR23171,hmmpanther:PTHR23171:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	73	54928825	54928825	T	G	1	0	0	0	0	1	0	0	0	2540	1821	63	5		5	CCDC68	18	54928825	Missense_Mutation	SNP	T	C3N-01074_TP	8351029	54928825	25444460	434	23871											
ALPK2	0	.	GRCh38	chr18	58537458	58537458	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattctccaccttggctagaTtttctcctgtggcaccttca	7	15	6	13	0	3	1	1	0	2	1	5	1	3	1	4	2	0	2	4	2	2	6	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.2729A>T	p.Asn910Ile	p.N910I	ENST00000361673	5/13	98	82	16	107	107	0	strelka-varscan-mutect	ALPK2,missense_variant,p.Asn910Ile,ENST00000361673,NM_052947.3;RP11-1151B14.4,non_coding_transcript_exon_variant,,ENST00000591360,;ALPK2,downstream_gene_variant,,ENST00000587842,;ALPK2,upstream_gene_variant,,ENST00000589204,;	A	ENST00000361673	Transcript	missense_variant	2943/7303	2729/6513	910/2170	N/I	aAt/aTt		1		-1	ALPK2	HGNC	HGNC:20565	protein_coding	YES	CCDS11966.2	ENSP00000354991	Q86TB3		UPI000022A768	NM_052947.3	deleterious(0.04)		5/13		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	58537458	58537458	T	A	1	0	0	0	0	1	0	0	0	645	1493	52	4		4	ALPK2	18	58537458	Missense_Mutation	SNP	T	C3N-01074_TP	3608633	58537458	21835827	435	23872											
ZCCHC2	0	.	GRCh38	chr18	62524162	62524162	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcggcattgtggagccccgGgtcggcggcgggcttggctc	2	7	20	12	5	0	0	0	0	0	0	2	1	0	1	2	8	1	3	2	8	0	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.738G>T	p.=	p.R246R	ENST00000269499	1/14	309	212	97	305	304	1	strelka-varscan-mutect	ZCCHC2,synonymous_variant,p.=,ENST00000269499,NM_017742.5;ZCCHC2,synonymous_variant,p.=,ENST00000588676,;ZCCHC2,upstream_gene_variant,,ENST00000621048,;RP11-120K19.4,downstream_gene_variant,,ENST00000612025,;ZCCHC2,upstream_gene_variant,,ENST00000591632,;ZCCHC2,synonymous_variant,p.=,ENST00000585873,;	T	ENST00000269499	Transcript	synonymous_variant	1156/5959	738/3537	246/1178	R	cgG/cgT		1		1	ZCCHC2	HGNC	HGNC:22916	protein_coding	YES	CCDS45880.1	ENSP00000269499	Q9C0B9		UPI00016D385A	NM_017742.5			1/14		hmmpanther:PTHR16195,hmmpanther:PTHR16195:SF14																	LOW	1	SNV	5			1										PASS		rs1330761628	.												T	2	4	73	62524162	62524162	G	T	1	0	0	0	0	0	0	0	1	18162	1219	43	2		2	ZCCHC2	18	62524162	Silent	SNP	G	C3N-01074_TP	3986704	62524162	17849123	436	23873											
CCDC102B	0	.	GRCh38	chr18	68837105	68837105	+	Frame_Shift_Del	DEL	C	C	-																															aaagttcgagctgaaaggaaCagtgccagggaggaaggaag																								novel		C3N-01074_TP	C3N-01074_NB	C	C																c.342delC	p.Asn114LysfsTer12	p.N114Kfs*12	ENST00000360242	2/8	478	359	119	507	507	0	sindel-varindel-pindel	CCDC102B,frameshift_variant,p.Asn114LysfsTer12,ENST00000360242,NM_001093729.1,NM_024781.2;CCDC102B,frameshift_variant,p.Asn114LysfsTer12,ENST00000584156,;CCDC102B,frameshift_variant,p.Asn114LysfsTer12,ENST00000584775,;CCDC102B,frameshift_variant,p.Asn114LysfsTer?,ENST00000582371,;CCDC102B,frameshift_variant,p.Asn114LysfsTer12,ENST00000581520,;CCDC102B,upstream_gene_variant,,ENST00000358653,;CCDC102B,downstream_gene_variant,,ENST00000578970,;CCDC102B,non_coding_transcript_exon_variant,,ENST00000577772,;	-	ENST00000360242	Transcript	frameshift_variant	459/2711	342/1542	114/513	N/X	aaC/aa		1		1	CCDC102B	HGNC	HGNC:26295	protein_coding	YES	CCDS11996.2	ENSP00000353377	Q68D86		UPI0000201E87	NM_001093729.1,NM_024781.2			2/8		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF479,hmmpanther:PTHR13140																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	73	68837105	68837105	C	-	1	0	1	0	1	0	0	0	0	2435	477	17	0		0	CCDC102B	18	68837105	Frame_Shift_Del	DEL	C	C3N-01074_TP	6312943	68837105	11536180	437	23874											
ZNF407	0	.	GRCh38	chr18	74634708	74634708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgagctgcgtgtccattGtgagggtgaaggaggaaacg	10	8	18	5	2	0	3	0	3	0	0	1	5	1	5	1	4	3	1	1	4	2	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.3689G>T	p.Cys1230Phe	p.C1230F	ENST00000299687	1/8	316	214	102	285	285	0	strelka-varscan-mutect	ZNF407,missense_variant,p.Cys1230Phe,ENST00000299687,NM_017757.2;ZNF407,missense_variant,p.Cys1230Phe,ENST00000577538,NM_001146189.1;ZNF407,missense_variant,p.Cys1230Phe,ENST00000582337,;ZNF407,missense_variant,p.Cys1230Phe,ENST00000309902,NM_001146190.1;	T	ENST00000299687	Transcript	missense_variant	3689/7948	3689/6747	1230/2248	C/F	tGt/tTt		1		1	ZNF407	HGNC	HGNC:19904	protein_coding	YES	CCDS45885.1	ENSP00000299687	Q9C0G0		UPI0000F58ED1	NM_017757.2	tolerated(0.2)		1/8																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	74634708	74634708	G	T	1	0	0	0	0	1	0	0	0	18459	1377	48	2		2	ZNF407	18	74634708	Missense_Mutation	SNP	G	C3N-01074_TP	5797603	74634708	5738577	438	23875											
SMIM21	0	.	GRCh38	chr18	75410882	75410882	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttattctgcttctgctgtGttcctggatgacttcaaacg	7	17	8	9	1	3	1	1	1	2	0	4	2	4	2	1	1	3	3	1	1	2	6	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.288C>A	p.Asn96Lys	p.N96K	ENST00000579022	3/3	399	345	54	362	362	0	strelka-varscan-mutect	SMIM21,missense_variant,p.Asn96Lys,ENST00000579022,NM_001037331.3;SMIM21,missense_variant,p.His53Asn,ENST00000382638,;RP11-321M21.3,intron_variant,,ENST00000578340,;RP11-321M21.3,intron_variant,,ENST00000579386,;	T	ENST00000579022	Transcript	missense_variant	428/1834	288/306	96/101	N/K	aaC/aaA		1		-1	SMIM21	HGNC	HGNC:27598	protein_coding	YES	CCDS32845.1	ENSP00000462106	Q3B7S5		UPI00001B64CE	NM_001037331.3	deleterious_low_confidence(0)		3/3																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	75410882	75410882	G	T	1	0	0	0	0	1	0	0	0	15108	1368	48	2		2	SMIM21	18	75410882	Missense_Mutation	SNP	G	C3N-01074_TP	776174	75410882	4962403	439	23876											
SALL3	0	.	GRCh38	chr18	78993017	78993017	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgcagagcgcatccacGccgcctgccctggccccggg	5	3	13	20	5	0	1	0	0	0	1	1	1	1	1	7	2	3	2	7	2	0	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1026G>T	p.=	p.T342T	ENST00000537592	2/3	82	54	28	82	82	0	strelka-varscan-mutect	SALL3,synonymous_variant,p.=,ENST00000537592,NM_171999.3;SALL3,synonymous_variant,p.=,ENST00000536229,;SALL3,synonymous_variant,p.=,ENST00000575389,;SALL3,intron_variant,,ENST00000616649,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	T	ENST00000537592	Transcript	synonymous_variant	1026/6555	1026/3903	342/1300	T	acG/acT		1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3			2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46																	LOW	1	SNV	5			1										PASS		rs1267389959	.												T	2	4	73	78993017	78993017	G	T	1	0	0	0	0	0	0	0	1	14071	1074	38	1		1	SALL3	18	78993017	Silent	SNP	G	C3N-01074_TP	3582135	78993017	1380268	440	23877											
ADNP2	0	.	GRCh38	chr18	80136704	80136704	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcacccctggggtcctgCaggctgtctcgccaggggtg	3	9	15	14	1	2	0	1	0	1	0	4	0	3	0	4	5	1	2	4	5	0	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1291C>T	p.Gln431Ter	p.Q431*	ENST00000262198	4/4	113	79	34	144	143	1	strelka-varscan-mutect	ADNP2,stop_gained,p.Gln431Ter,ENST00000262198,NM_014913.3;ADNP2,intron_variant,,ENST00000561195,;ADNP2,downstream_gene_variant,,ENST00000560752,;ADNP2,downstream_gene_variant,,ENST00000559951,;ADNP2,downstream_gene_variant,,ENST00000560561,;	T	ENST00000262198	Transcript	stop_gained	1746/5393	1291/3396	431/1131	Q/*	Cag/Tag		1		1	ADNP2	HGNC	HGNC:23803	protein_coding	YES	CCDS32853.1	ENSP00000262198	Q6IQ32	A0A024R377	UPI0000071DEA	NM_014913.3			4/4																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	73	80136704	80136704	C	T	1	0	0	0	0	0	1	0	0	399	711	25	3		3	ADNP2	18	80136704	Nonsense_Mutation	SNP	C	C3N-01074_TP	1143687	80136704	236581	441	23878											
PLPPR3	0	.	GRCh38	chr19	812824	812824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgagccgggggacacgcccgGgggcttggccccgccgcgga	4	2	19	16	7	0	0	0	0	0	0	0	3	0	2	5	6	1	1	5	6	0	1	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1987C>A	p.Pro663Thr	p.P663T	ENST00000359894	7/7	17	8	9	17	17	0	strelka-varscan-mutect	PLPPR3,missense_variant,p.Pro663Thr,ENST00000359894,NM_024888.2;PLPPR3,missense_variant,p.Pro635Thr,ENST00000520876,NM_001270366.1;PTBP1,downstream_gene_variant,,ENST00000635647,;PTBP1,downstream_gene_variant,,ENST00000356948,NM_002819.4;PTBP1,downstream_gene_variant,,ENST00000394601,NM_031990.3;PTBP1,downstream_gene_variant,,ENST00000349038,NM_031991.3;PTBP1,downstream_gene_variant,,ENST00000350092,;PTBP1,downstream_gene_variant,,ENST00000627714,;PLPPR3,downstream_gene_variant,,ENST00000519502,;PTBP1,downstream_gene_variant,,ENST00000585956,;PLPPR3,downstream_gene_variant,,ENST00000517665,;PTBP1,downstream_gene_variant,,ENST00000587191,;PTBP1,downstream_gene_variant,,ENST00000585535,;MIR3187,upstream_gene_variant,,ENST00000583431,;PTBP1,downstream_gene_variant,,ENST00000586944,;PTBP1,downstream_gene_variant,,ENST00000585856,;PTBP1,downstream_gene_variant,,ENST00000621737,;PTBP1,downstream_gene_variant,,ENST00000585932,;	T	ENST00000359894	Transcript	missense_variant	2051/2387	1987/2241	663/746	P/T	Ccg/Acg		1		-1	PLPPR3	HGNC	HGNC:23497	protein_coding	YES	CCDS12043.1	ENSP00000352962	Q6T4P5		UPI00000730B6	NM_024888.2	tolerated(0.12)		7/7		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1478660281	.												T	3	4	73	812824	812824	G	T	1	0	0	0	0	1	0	0	0	12211	1232	43	2		2	PLPPR3	19	812824	Missense_Mutation	SNP	G	C3N-01074_TP		812824	57804792	442	23879											
STK11	0	.	GRCh38	chr19	1221229	1221229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagctacaacatcaccacgGgtctgtaccccttcgaaggg	11	7	10	13	2	2	0	1	0	1	0	3	2	2	0	3	2	4	2	3	2	5	3			C3N-01074_TP	C3N-01074_NB	G	G																c.751G>T	p.Gly251Cys	p.G251C	ENST00000326873	6/10	138	81	57	157	157	0	strelka-varscan-mutect	STK11,missense_variant,p.Gly251Cys,ENST00000586243,;STK11,missense_variant,p.Gly251Cys,ENST00000326873,NM_000455.4;STK11,upstream_gene_variant,,ENST00000585465,;STK11,downstream_gene_variant,,ENST00000585748,;STK11,downstream_gene_variant,,ENST00000585851,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000591133,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;STK11,downstream_gene_variant,,ENST00000593219,;	T	ENST00000326873	Transcript	missense_variant	1201/2611	751/1302	251/433	G/C	Ggt/Tgt	CM981868,COSM5305090,COSM5337089,COSM5337090,COSM564708	1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4	deleterious(0)		6/10		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1	1										PASS		.	.												T	3	4	73	1221229	1221229	G	T	1	0	0	0	0	1	0	0	0	15664	1232	43	2		2	STK11	19	1221229	Missense_Mutation	SNP	G	C3N-01074_TP	408405	1221229	57396387	443	23880											
MEX3D	0	.	GRCh38	chr19	1556642	1556642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgcgcttgatggtggcgcCcttgggccccaccaccagcc	5	7	13	16	2	0	1	0	1	0	0	0	2	0	1	6	3	2	1	6	3	0	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.877G>A	p.Gly293Ser	p.G293S	ENST00000402693	2/2	212	129	83	274	274	0	strelka-varscan-mutect	MEX3D,missense_variant,p.Gly293Ser,ENST00000402693,NM_203304.3,NM_001174118.1;MEX3D,missense_variant,p.Gly117Ser,ENST00000605173,;	T	ENST00000402693	Transcript	missense_variant	877/2850	877/1956	293/651	G/S	Ggc/Agc		1		-1	MEX3D	HGNC	HGNC:16734	protein_coding	YES	CCDS32865.2	ENSP00000384398	Q86XN8		UPI000059D61B	NM_203304.3,NM_001174118.1	deleterious(0)		2/2		PROSITE_profiles:PS50084,hmmpanther:PTHR23285,hmmpanther:PTHR23285:SF3,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	1556642	1556642	C	T	1	0	0	0	0	1	0	0	0	9465	623	22	3		3	MEX3D	19	1556642	Missense_Mutation	SNP	C	C3N-01074_TP	335413	1556642	57060974	444	23881											
SAFB2	0	.	GRCh38	chr19	5587257	5587257	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacttagtagcggcgggTgaagtgggggtacggggggg	6	7	24	4	3	0	1	0	1	0	0	0	2	0	2	0	8	2	2	0	8	4	3	rs746356562		C3N-01074_TP	C3N-01074_NB	T	T																c.2848A>C	p.Thr950Pro	p.T950P	ENST00000252542	21/21	126	118	8	117	116	1	varscan-mutect	SAFB2,missense_variant,p.Thr950Pro,ENST00000252542,NM_014649.2;SAFB2,non_coding_transcript_exon_variant,,ENST00000587802,;SAFB2,downstream_gene_variant,,ENST00000589925,;SAFB2,downstream_gene_variant,,ENST00000590000,;	G	ENST00000252542	Transcript	missense_variant	3113/3371	2848/2862	950/953	T/P	Acc/Ccc	rs746356562	1		-1	SAFB2	HGNC	HGNC:21605	protein_coding	YES	CCDS32879.1	ENSP00000252542	Q14151		UPI0000071DB7	NM_014649.2	deleterious(0)		21/21		hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF4																	MODERATE	1	SNV	1			1										PASS		rs746356562	.												G	3	3	73	5587257	5587257	T	G	1	0	0	0	0	1	0	0	0	14066	1696	59	5		5	SAFB2	19	5587257	Missense_Mutation	SNP	T	C3N-01074_TP	4030615	5587257	53030359	445	23882											
INSR	0	.	GRCh38	chr19	7172424	7172424	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttggcttctagctcagcTgccagattgtctaaggaaag	10	11	12	8	0	3	1	1	0	2	1	3	2	3	2	1	3	3	4	1	3	3	5	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.1134A>T	p.=	p.A378A	ENST00000302850	5/22	445	252	193	554	553	1	strelka-varscan-mutect	INSR,synonymous_variant,p.=,ENST00000341500,NM_001079817.1;INSR,synonymous_variant,p.=,ENST00000302850,NM_000208.2;INSR,upstream_gene_variant,,ENST00000600492,;INSR,non_coding_transcript_exon_variant,,ENST00000598216,;	A	ENST00000302850	Transcript	synonymous_variant	1277/4721	1134/4149	378/1382	A	gcA/gcT		1		-1	INSR	HGNC	HGNC:6091	protein_coding	YES	CCDS12176.1	ENSP00000303830	P06213		UPI000020324D	NM_000208.2			5/22		Gene3D:3.80.20.20,Pfam_domain:PF01030,PIRSF_domain:PIRSF000620,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF325,Low_complexity_(Seg):seg,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		rs1455977199	.												A	2	1	73	7172424	7172424	T	A	1	0	0	0	0	0	0	0	1	7675	1567	55	4		4	INSR	19	7172424	Silent	SNP	T	C3N-01074_TP	1585167	7172424	51445192	446	23883											
MUC16	0	.	GRCh38	chr19	8953510	8953510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtctttgtaagtggtcaGtctctcatgggaggtggtgc	6	14	15	6	0	4	0	2	0	2	0	5	1	4	1	0	4	1	1	0	4	1	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.23260C>A	p.Leu7754Met	p.L7754M	ENST00000397910	3/84	330	184	146	345	345	0	strelka-varscan-mutect	MUC16,missense_variant,p.Leu7754Met,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	23464/43816	23260/43524	7754/14507	L/M	Ctg/Atg		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	73	8953510	8953510	G	T	1	0	0	0	0	1	0	0	0	9972	1020	36	2		2	MUC16	19	8953510	Missense_Mutation	SNP	G	C3N-01074_TP	1781086	8953510	49664106	447	23884											
OR7G2	0	.	GRCh38	chr19	9103168	9103168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaacaggctgaaaaggaCgggctgcagttccggatcct	11	6	14	10	2	0	1	0	1	0	0	2	4	2	4	2	5	2	4	2	5	3	1	rs201831795		C3N-01074_TP	C3N-01074_NB	C	C																c.139G>A	p.Val47Ile	p.V47I	ENST00000305456	1/1	351	212	139	447	447	0	strelka-varscan-mutect	OR7G2,missense_variant,p.Val47Ile,ENST00000305456,NM_001005193.1;	T	ENST00000305456	Transcript	missense_variant	139/1038	139/1038	47/345	V/I	Gtc/Atc	rs201831795	1		-1	OR7G2	HGNC	HGNC:8466	protein_coding	YES	CCDS32897.1	ENSP00000303822	Q8NG99		UPI00000472B7	NM_001005193.1	tolerated(0.17)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF326,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs201831795	.												T	3	4	73	9103168	9103168	C	T	1	0	0	0	0	1	0	0	0	11293	536	19	1		1	OR7G2	19	9103168	Missense_Mutation	SNP	C	C3N-01074_TP	149658	9103168	49514448	448	23885											
SMARCA4	0	.	GRCh38	chr19	11023548	11023548	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggaggaaaccattctcAtcatccggcgtctccacaaa	13	8	8	12	2	3	1	2	1	2	0	6	3	4	3	3	3	1	0	3	3	2	1	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.2890A>T	p.Ile964Phe	p.I964F	ENST00000429416	21/36	378	295	83	380	379	1	strelka-varscan-mutect	SMARCA4,missense_variant,p.Ile964Phe,ENST00000429416,NM_001128844.1;SMARCA4,missense_variant,p.Ile1028Phe,ENST00000413806,;SMARCA4,missense_variant,p.Ile964Phe,ENST00000450717,NM_001128849.1;SMARCA4,missense_variant,p.Ile964Phe,ENST00000344626,NM_003072.3;SMARCA4,missense_variant,p.Ile964Phe,ENST00000590574,NM_001128847.1;SMARCA4,missense_variant,p.Ile964Phe,ENST00000589677,NM_001128846.1;SMARCA4,missense_variant,p.Ile964Phe,ENST00000541122,NM_001128845.1;SMARCA4,missense_variant,p.Ile964Phe,ENST00000444061,NM_001128848.1;SMARCA4,non_coding_transcript_exon_variant,,ENST00000586122,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000587988,;	T	ENST00000429416	Transcript	missense_variant	3171/5691	2890/4944	964/1647	I/F	Atc/Ttc		1		1	SMARCA4	HGNC	HGNC:11100	protein_coding	YES	CCDS12253.1	ENSP00000395654	P51532	A7E2E1	UPI000006F973	NM_001128844.1	deleterious(0.01)		21/36		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,Pfam_domain:PF00176,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	73	11023548	11023548	A	T	1	0	0	0	0	1	0	0	0	15063	217	8	4		4	SMARCA4	19	11023548	Missense_Mutation	SNP	A	C3N-01074_TP	1920380	11023548	47594068	449	23886											
ZNF490	0	.	GRCh38	chr19	12581492	12581492	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcccacattctttgcattTatgtggcttctctccatatt	6	20	4	11	0	2	0	0	0	2	0	5	0	4	0	2	1	1	2	2	1	2	8	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.583A>T	p.Lys195Ter	p.K195*	ENST00000311437	5/5	245	155	90	385	384	1	strelka-varscan-mutect	ZNF490,stop_gained,p.Lys195Ter,ENST00000311437,NM_020714.2;ZNF490,downstream_gene_variant,,ENST00000440366,;ZNF490,downstream_gene_variant,,ENST00000465656,;ZNF490,3_prime_UTR_variant,,ENST00000414906,;CTD-2192J16.20,upstream_gene_variant,,ENST00000593682,;	A	ENST00000311437	Transcript	stop_gained	706/4237	583/1590	195/529	K/*	Aaa/Taa		1		-1	ZNF490	HGNC	HGNC:23705	protein_coding	YES	CCDS12272.1	ENSP00000311521	Q9ULM2		UPI0000001C6F	NM_020714.2			5/5		Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF16,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	73	12581492	12581492	T	A	1	0	0	0	0	0	1	0	0	18514	1763	61	4		4	ZNF490	19	12581492	Nonsense_Mutation	SNP	T	C3N-01074_TP	1557944	12581492	46036124	450	23887											
ZNF486	0	.	GRCh38	chr19	20197880	20197880	+	Frame_Shift_Del	DEL	T	T	-																															ggcaaagcctttacatggtcTgcaggcctccataaacatag																								novel		C3N-01074_TP	C3N-01074_NB	T	T																c.1170delT	p.Ala391GlnfsTer31	p.A391Qfs*31	ENST00000335117	4/4	226	118	108	362	362	0	sindel-varindel	ZNF486,frameshift_variant,p.Ala391GlnfsTer31,ENST00000335117,NM_052852.3;CTC-260E6.6,intron_variant,,ENST00000585498,;CTC-260E6.6,intron_variant,,ENST00000593655,;CTC-260E6.6,intron_variant,,ENST00000586657,;	-	ENST00000335117	Transcript	frameshift_variant	1227/3837	1170/1392	390/463	S/X	tcT/tc		1		1	ZNF486	HGNC	HGNC:20807	protein_coding	YES	CCDS46029.1	ENSP00000335042	Q96H40		UPI00002376E8	NM_052852.3			4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF95,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	73	20197880	20197880	T	-	1	0	1	0	1	0	0	0	0	18511	1567	55	0		0	ZNF486	19	20197880	Frame_Shift_Del	DEL	T	C3N-01074_TP	7616388	20197880	38419736	451	23888	502	2									
ZNF486	0	.	GRCh38	chr19	20197881	20197881	+	Missense_Mutation	SNP	G	G	A																															gcaaagcctttacatggtctGcaggcctccataaacatagg																								rs781863131		C3N-01074_TP	C3N-01074_NB	G	G																c.1171G>A	p.Ala391Thr	p.A391T	ENST00000335117	4/4	253	135	118	356	355	1	strelka-mutect	ZNF486,missense_variant,p.Ala391Thr,ENST00000335117,NM_052852.3;CTC-260E6.6,intron_variant,,ENST00000585498,;CTC-260E6.6,intron_variant,,ENST00000593655,;CTC-260E6.6,intron_variant,,ENST00000586657,;	A	ENST00000335117	Transcript	missense_variant	1228/3837	1171/1392	391/463	A/T	Gca/Aca	rs781863131	1		1	ZNF486	HGNC	HGNC:20807	protein_coding	YES	CCDS46029.1	ENSP00000335042	Q96H40		UPI00002376E8	NM_052852.3	deleterious(0.04)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF95,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs781863131	.												A	3	1	73	20197881	20197881	G	A	1	0	0	0	0	1	0	0	0	18511	1319	46	3		3	ZNF486	19	20197881	Missense_Mutation	SNP	G	C3N-01074_TP	1	20197881	38419735	452	23889	502	2									
ZNF208	0	.	GRCh38	chr19	21987266	21987266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatattccaggactcttttCcttcctccagaaaaatgatc	11	14	4	12	0	2	2	1	1	1	1	7	3	6	3	4	1	0	0	4	1	3	5			C3N-01074_TP	C3N-01074_NB	C	C																c.176G>T	p.Gly59Val	p.G59V	ENST00000397126	3/4	109	73	36	154	154	0	strelka-varscan-mutect	ZNF208,missense_variant,p.Gly59Val,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Gly59Val,ENST00000609966,;ZNF208,missense_variant,p.Gly59Val,ENST00000601773,;ZNF208,missense_variant,p.Gly27Val,ENST00000597040,;ZNF208,missense_variant,p.Gly59Val,ENST00000599916,;ZNF208,missense_variant,p.Gly58Val,ENST00000599723,;ZNF208,downstream_gene_variant,,ENST00000601993,;	A	ENST00000397126	Transcript	missense_variant	325/3992	176/3843	59/1280	G/V	gGa/gTa	COSM710750,COSM710751,COSM710752	1		-1	ZNF208	HGNC	HGNC:12999	protein_coding	YES	CCDS54240.1	ENSP00000380315	O43345		UPI0001B23C28	NM_007153.3	deleterious(0.02)		3/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,SMART_domains:SM00349,Superfamily_domains:0044637											1,1,1						MODERATE	1	SNV	3		1,1,1	1										PASS		.	.												A	3	1	73	21987266	21987266	C	A	1	0	0	0	0	1	0	0	0	18343	855	30	2		2	ZNF208	19	21987266	Missense_Mutation	SNP	C	C3N-01074_TP	1789385	21987266	36630350	453	23890											
ZNF492	0	.	GRCh38	chr19	22664181	22664181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagagaaaccctacaaatGtaaagaatgtgggaaagcct	17	7	11	6	0	0	2	0	0	0	2	0	5	0	4	2	2	3	1	2	2	7	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.512G>T	p.Cys171Phe	p.C171F	ENST00000456783	4/4	115	85	30	191	191	0	strelka-varscan-mutect	ZNF492,missense_variant,p.Cys171Phe,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	T	ENST00000456783	Transcript	missense_variant	756/4245	512/1596	171/531	C/F	tGt/tTt		1		1	ZNF492	HGNC	HGNC:23707	protein_coding	YES	CCDS46032.1	ENSP00000413660	Q9P255		UPI00001C200B	NM_020855.2	deleterious(0.03)		4/4		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	22664181	22664181	G	T	1	0	0	0	0	1	0	0	0	18516	1377	48	2		2	ZNF492	19	22664181	Missense_Mutation	SNP	G	C3N-01074_TP	676915	22664181	35953435	454	23891											
ZNF728	0	.	GRCh38	chr19	22976019	22976019	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaattactttatgtttagTaaggctcgaaaatgtagtaa	15	15	8	3	1	0	1	0	1	0	0	1	2	0	1	0	1	1	5	0	1	9	8	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.1318A>T	p.Thr440Ser	p.T440S	ENST00000594710	4/4	172	106	66	326	326	0	strelka-varscan-mutect	ZNF728,missense_variant,p.Thr440Ser,ENST00000594710,NM_001267716.1;ZNF728,downstream_gene_variant,,ENST00000599851,;	A	ENST00000594710	Transcript	missense_variant	1464/2015	1318/1869	440/622	T/S	Act/Tct		1		-1	ZNF728	HGNC	HGNC:32463	protein_coding	YES	CCDS59370.1	ENSP00000471593	P0DKX0		UPI0002656E4B	NM_001267716.1	tolerated(0.19)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF239,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	73	22976019	22976019	T	A	1	0	0	0	0	1	0	0	0	18702	1638	57	4		4	ZNF728	19	22976019	Missense_Mutation	SNP	T	C3N-01074_TP	311838	22976019	35641597	455	23892											
ZNF536	0	.	GRCh38	chr19	30547981	30547981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgcactgtgactatgccGgcacgcagtcagcatcctta	8	9	10	14	3	1	1	1	1	0	0	3	1	3	1	3	1	2	4	3	1	2	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.2362G>T	p.Gly788Cys	p.G788C	ENST00000355537	4/5	81	56	25	89	89	0	strelka-varscan-mutect	ZNF536,missense_variant,p.Gly788Cys,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.Gly788Cys,ENST00000585628,;ZNF536,upstream_gene_variant,,ENST00000592773,;	T	ENST00000355537	Transcript	missense_variant	2509/4945	2362/3903	788/1300	G/C	Ggc/Tgc		1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	deleterious(0)		4/5		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1251303551	.												T	3	4	73	30547981	30547981	G	T	1	0	0	0	0	1	0	0	0	18547	1116	39	1		1	ZNF536	19	30547981	Missense_Mutation	SNP	G	C3N-01074_TP	7571962	30547981	28069635	456	23893											
ZNF536	0	.	GRCh38	chr19	30549038	30549038	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctgatggaaaggcccActctgaagaggatgtcccca	11	6	13	11	0	1	3	0	2	1	1	2	6	2	6	4	4	1	0	4	4	2	0	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.3419A>T	p.His1140Leu	p.H1140L	ENST00000355537	4/5	399	300	99	358	355	3	strelka-varscan-mutect	ZNF536,missense_variant,p.His1140Leu,ENST00000355537,NM_014717.1;ZNF536,downstream_gene_variant,,ENST00000585628,;ZNF536,upstream_gene_variant,,ENST00000592773,;CTD-2001J20.1,upstream_gene_variant,,ENST00000623331,;	T	ENST00000355537	Transcript	missense_variant	3566/4945	3419/3903	1140/1300	H/L	cAc/cTc		1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	tolerated_low_confidence(0.33)		4/5		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	30549038	30549038	A	T	1	0	0	0	0	1	0	0	0	18547	159	6	4		4	ZNF536	19	30549038	Missense_Mutation	SNP	A	C3N-01074_TP	1057	30549038	28068578	457	23894											
HPN	0	.	GRCh38	chr19	35060475	35060475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggatccctgctctccGgggactgggtgctgacagcc	4	8	17	12	1	1	1	0	1	1	0	3	3	2	3	3	5	3	2	3	5	0	0	rs868306911		C3N-01074_TP	C3N-01074_NB	G	G																c.583G>T	p.Gly195Trp	p.G195W	ENST00000262626	8/13	278	202	76	249	249	0	strelka-varscan-mutect	HPN,missense_variant,p.Gly195Trp,ENST00000262626,NM_182983.2;HPN,missense_variant,p.Gly195Trp,ENST00000392226,NM_002151.2;HPN,intron_variant,,ENST00000597419,;HPN,downstream_gene_variant,,ENST00000600390,;HPN-AS1,intron_variant,,ENST00000392227,;HPN,downstream_gene_variant,,ENST00000600675,;HPN,non_coding_transcript_exon_variant,,ENST00000593305,;HPN,non_coding_transcript_exon_variant,,ENST00000599363,;HPN,non_coding_transcript_exon_variant,,ENST00000541345,;HPN,downstream_gene_variant,,ENST00000596662,;	T	ENST00000262626	Transcript	missense_variant	1408/2363	583/1254	195/417	G/W	Ggg/Tgg	rs868306911,COSM4691065	1		1	HPN	HGNC	HGNC:5155	protein_coding	YES	CCDS32993.1	ENSP00000262626	P05981	A0A140VJK9	UPI000003FE67	NM_182983.2	deleterious(0.02)		8/13		Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF130,SMART_domains:SM00020,Superfamily_domains:SSF50494											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs868306911	.												T	3	4	73	35060475	35060475	G	T	1	0	0	0	0	1	0	0	0	7231	1116	39	1		1	HPN	19	35060475	Missense_Mutation	SNP	G	C3N-01074_TP	4511437	35060475	23557141	458	23895											
ZNF585B	0	.	GRCh38	chr19	37189701	37189701	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaccctgcagtgcccaTggttcctttccttgctccaa	5	13	6	17	0	1	0	1	0	1	0	5	0	4	0	5	1	3	3	5	1	1	3	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.252A>G	p.=	p.P84P	ENST00000532828	4/5	476	429	47	363	363	0	strelka-varscan-mutect	ZNF585B,synonymous_variant,p.=,ENST00000532828,NM_152279.3;ZNF585B,synonymous_variant,p.=,ENST00000531805,;ZNF585B,synonymous_variant,p.=,ENST00000527838,;ZNF585B,synonymous_variant,p.=,ENST00000591492,;ZNF585B,synonymous_variant,p.=,ENST00000586320,;CTC-454I21.3,intron_variant,,ENST00000588873,;CTC-454I21.3,synonymous_variant,p.=,ENST00000585860,;CTC-454I21.3,intron_variant,,ENST00000590245,;ZNF585B,downstream_gene_variant,,ENST00000392156,;ZNF585B,downstream_gene_variant,,ENST00000591273,;ZNF585B,downstream_gene_variant,,ENST00000526705,;	C	ENST00000532828	Transcript	synonymous_variant	504/6210	252/2310	84/769	P	ccA/ccG		1		-1	ZNF585B	HGNC	HGNC:30948	protein_coding	YES	CCDS12500.1	ENSP00000433773	Q52M93		UPI00001AF01B	NM_152279.3			4/5		PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF105,hmmpanther:PTHR24377,SMART_domains:SM00349																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	73	37189701	37189701	T	C	1	0	0	0	0	0	0	0	1	18592	1451	51	5		5	ZNF585B	19	37189701	Silent	SNP	T	C3N-01074_TP	2129226	37189701	21427915	459	23896											
ECH1	0	.	GRCh38	chr19	38817487	38817487	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtctcctggtatcgagtGatgatgtcacggaggtacca	10	10	13	8	2	2	2	1	2	1	0	4	4	2	3	2	4	1	2	2	4	3	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.438C>T	p.=	p.I146I	ENST00000221418	4/10	267	192	75	177	177	0	strelka-varscan-mutect	ECH1,synonymous_variant,p.=,ENST00000221418,NM_001398.2;AC104534.3,synonymous_variant,p.=,ENST00000594769,;ECH1,synonymous_variant,p.=,ENST00000601778,;ECH1,synonymous_variant,p.=,ENST00000595470,;AC104534.3,synonymous_variant,p.=,ENST00000602021,;LGALS4,upstream_gene_variant,,ENST00000307751,NM_006149.3;LGALS4,upstream_gene_variant,,ENST00000594209,;AC104534.2,upstream_gene_variant,,ENST00000594558,;LGALS4,upstream_gene_variant,,ENST00000597803,;ECH1,3_prime_UTR_variant,,ENST00000594164,;ECH1,non_coding_transcript_exon_variant,,ENST00000600178,;ECH1,non_coding_transcript_exon_variant,,ENST00000598707,;ECH1,non_coding_transcript_exon_variant,,ENST00000601060,;ECH1,non_coding_transcript_exon_variant,,ENST00000598316,;LGALS4,upstream_gene_variant,,ENST00000595278,;LGALS4,upstream_gene_variant,,ENST00000597153,;ECH1,upstream_gene_variant,,ENST00000594391,;ECH1,upstream_gene_variant,,ENST00000601333,;	A	ENST00000221418	Transcript	synonymous_variant	671/1411	438/987	146/328	I	atC/atT		1		-1	ECH1	HGNC	HGNC:3149	protein_coding	YES	CCDS33014.1	ENSP00000221418	Q13011		UPI0000071141	NM_001398.2			4/10		Gene3D:3.90.226.10,Pfam_domain:PF00378,hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF43,Superfamily_domains:SSF52096																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	73	38817487	38817487	G	A	1	0	0	0	0	0	0	0	1	4718	1280	45	3		3	ECH1	19	38817487	Silent	SNP	G	C3N-01074_TP	1627786	38817487	19800129	460	23897											
SUPT5H	0	.	GRCh38	chr19	39470119	39470119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccacacccaatcccccagGacatgttggagttcccagcc	9	6	7	19	0	0	0	0	0	0	0	2	2	2	2	7	2	1	2	7	2	1	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1375G>T	p.Asp459Tyr	p.D459Y	ENST00000599117	18/31	199	179	20	132	132	0	strelka-varscan-mutect	SUPT5H,missense_variant,p.Asp459Tyr,ENST00000599117,NM_001319990.1;SUPT5H,missense_variant,p.Asp455Tyr,ENST00000359191,NM_001319991.1;SUPT5H,missense_variant,p.Asp459Tyr,ENST00000598725,NM_001319990.1,NM_003169.3;SUPT5H,missense_variant,p.Asp459Tyr,ENST00000432763,NM_001111020.2,NM_001130824.1;SUPT5H,missense_variant,p.Asp455Tyr,ENST00000402194,NM_001130825.1;SUPT5H,downstream_gene_variant,,ENST00000593727,;SUPT5H,splice_region_variant,,ENST00000599335,;SUPT5H,non_coding_transcript_exon_variant,,ENST00000598117,;SUPT5H,downstream_gene_variant,,ENST00000598520,;SUPT5H,upstream_gene_variant,,ENST00000596208,;	T	ENST00000599117	Transcript	missense_variant,splice_region_variant	1742/3902	1375/3264	459/1087	D/Y	Gac/Tac		1		1	SUPT5H	HGNC	HGNC:11469	protein_coding	YES	CCDS12536.1	ENSP00000470252	O00267		UPI000006D81A	NM_001319990.1	deleterious(0)		18/31		hmmpanther:PTHR11125,PIRSF_domain:PIRSF036945																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	73	39470119	39470119	G	T	1	0	0	0	0	1	0	0	0	15786	1188	41	2		2	SUPT5H	19	39470119	Missense_Mutation	SNP	G	C3N-01074_TP	652632	39470119	19147497	461	23898											
CYP2A13	0	.	GRCh38	chr19	41088545	41088545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttgatgtcagtctggcGgcagaggaagagcaggggga	9	7	19	6	1	3	3	1	1	2	2	3	5	3	5	0	6	1	2	0	6	1	1	rs8192784		C3N-01074_TP	C3N-01074_NB	G	G																c.74G>A	p.Arg25Gln	p.R25Q	ENST00000330436	1/9	256	221	35	216	216	0	strelka-varscan-mutect	CYP2A13,missense_variant,p.Arg25Gln,ENST00000330436,NM_000766.4;	A	ENST00000330436	Transcript	missense_variant	74/1739	74/1485	25/494	R/Q	cGg/cAg	rs8192784	1		1	CYP2A13	HGNC	HGNC:2608	protein_coding	YES	CCDS12571.1	ENSP00000332679	Q16696		UPI000013E07A	NM_000766.4	tolerated(0.2)		1/9		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF186,Gene3D:1.10.630.10												24212786					MODERATE	1	SNV	1			1										PASS		rs8192784	.												A	3	1	73	41088545	41088545	G	A	1	0	0	0	0	1	0	0	0	3964	1116	39	1		1	CYP2A13	19	41088545	Missense_Mutation	SNP	G	C3N-01074_TP	1618426	41088545	17529071	462	23899											
PSG3	0	.	GRCh38	chr19	42738814	42738814	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggatcctgcgtcctcccGggtgacattctggatcagca	7	10	12	12	2	2	1	1	1	1	0	5	3	5	3	3	3	2	2	3	3	1	2	rs149473391		C3N-01074_TP	C3N-01074_NB	G	G																c.340C>A	p.=	p.R114R	ENST00000327495	2/7	419	304	115	362	362	0	strelka-varscan-mutect	PSG3,synonymous_variant,p.=,ENST00000327495,NM_021016.3;PSG3,synonymous_variant,p.=,ENST00000595140,;PSG3,synonymous_variant,p.=,ENST00000614582,;PSG3,non_coding_transcript_exon_variant,,ENST00000490592,;PSG3,synonymous_variant,p.=,ENST00000594378,;PSG3,non_coding_transcript_exon_variant,,ENST00000597009,;	T	ENST00000327495	Transcript	synonymous_variant	525/1961	340/1287	114/428	R	Cgg/Agg	rs149473391,COSM381157,COSM5265929	1		-1	PSG3	HGNC	HGNC:9520	protein_coding	YES	CCDS12611.1	ENSP00000332215	Q16557		UPI0000073DC1	NM_021016.3			2/7		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF669,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs149473391	.												T	2	4	73	42738814	42738814	G	T	1	0	0	0	0	0	0	0	1	12807	1115	39	1		1	PSG3	19	42738814	Silent	SNP	G	C3N-01074_TP	1650269	42738814	15878802	463	23900											
PSG9	0	.	GRCh38	chr19	43259130	43259130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatgtaggggatgggcaGcttcgctgtgtggataacag	8	10	18	5	1	0	1	0	1	0	0	1	3	0	3	0	5	2	4	0	5	2	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.715C>A	p.Leu239Met	p.L239M	ENST00000270077	4/6	158	118	40	206	206	0	strelka-varscan-mutect	PSG9,missense_variant,p.Leu239Met,ENST00000621109,;PSG9,missense_variant,p.Leu146Met,ENST00000418820,;PSG9,missense_variant,p.Leu239Met,ENST00000270077,NM_002784.4;PSG9,missense_variant,p.Leu146Met,ENST00000443718,NM_001301707.1;PSG9,intron_variant,,ENST00000244293,;PSG9,intron_variant,,ENST00000596730,;PSG9,intron_variant,,ENST00000593948,NM_001301708.1;PSG9,intron_variant,,ENST00000291752,NM_001301709.1;PSG9,non_coding_transcript_exon_variant,,ENST00000595404,;	T	ENST00000270077	Transcript	missense_variant	812/1705	715/1281	239/426	L/M	Ctg/Atg		1		-1	PSG9	HGNC	HGNC:9526	protein_coding	YES	CCDS12618.1	ENSP00000270077	Q00887		UPI00001327A5	NM_002784.4	tolerated(0.25)		4/6		hmmpanther:PTHR10489																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	43259130	43259130	G	T	1	0	0	0	0	1	0	0	0	12813	985	34	2		2	PSG9	19	43259130	Missense_Mutation	SNP	G	C3N-01074_TP	520316	43259130	15358486	464	23901											
ZNF234	0	.	GRCh38	chr19	44156467	44156467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagaaattttaccaatgtGatgagtacaaaaaatccttc	17	11	6	7	0	0	3	0	2	0	1	2	4	1	3	2	0	2	1	2	0	7	4			C3N-01074_TP	C3N-01074_NB	G	G																c.451G>A	p.Asp151Asn	p.D151N	ENST00000426739	6/6	166	109	57	198	198	0	strelka-varscan-mutect	ZNF234,missense_variant,p.Asp151Asn,ENST00000426739,NM_006630.2;ZNF234,missense_variant,p.Asp151Asn,ENST00000592437,NM_001144824.1;	A	ENST00000426739	Transcript	missense_variant	709/4551	451/2103	151/700	D/N	Gat/Aat	COSM4918008	1		1	ZNF234	HGNC	HGNC:13027	protein_coding	YES	CCDS46101.1	ENSP00000400878	Q14588	A0A024R0N3	UPI0000070C95	NM_006630.2	tolerated(1)		6/6		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	73	44156467	44156467	G	A	1	0	0	0	0	1	0	0	0	18364	1290	45	3		3	ZNF234	19	44156467	Missense_Mutation	SNP	G	C3N-01074_TP	897337	44156467	14461149	465	23902											
ZNF235	0	.	GRCh38	chr19	44288971	44288971	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgattcactagacagttgTcatccacagaagcttgaata	13	12	8	8	0	2	4	2	2	0	2	3	4	3	4	1	0	1	2	1	0	4	5	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.464A>T	p.Asp155Val	p.D155V	ENST00000291182	5/5	147	111	36	183	183	0	strelka-varscan-mutect	ZNF235,missense_variant,p.Asp155Val,ENST00000291182,NM_004234.4;ZNF235,missense_variant,p.Asp77Val,ENST00000616224,;ZNF235,missense_variant,p.Asp240Val,ENST00000591609,;ZNF235,intron_variant,,ENST00000589799,;ZNF235,intron_variant,,ENST00000589248,;ZNF235,non_coding_transcript_exon_variant,,ENST00000587921,;ZNF235,intron_variant,,ENST00000592844,;CTC-512J12.7,upstream_gene_variant,,ENST00000605717,;	A	ENST00000291182	Transcript	missense_variant	567/3188	464/2217	155/738	D/V	gAc/gTc		1		-1	ZNF235	HGNC	HGNC:12866	protein_coding	YES	CCDS33048.1	ENSP00000291182	Q14590		UPI00002025C2	NM_004234.4	deleterious(0.02)		5/5																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	44288971	44288971	T	A	1	0	0	0	0	1	0	0	0	18365	1667	58	4		4	ZNF235	19	44288971	Missense_Mutation	SNP	T	C3N-01074_TP	132504	44288971	14328645	466	23903											
PNMAL2	0	.	GRCh38	chr19	46494862	46494862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgatcacgatgcccaGgctctcgtcggaagagtcct	7	9	10	15	4	2	1	1	0	1	1	7	4	4	2	3	2	1	1	3	2	1	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.604C>A	p.Leu202Met	p.L202M	ENST00000599531	1/1	322	224	98	295	293	2	strelka-varscan-mutect	PNMAL2,missense_variant,p.Leu202Met,ENST00000599531,NM_020709.2;PPP5D1,intron_variant,,ENST00000602017,NM_001205281.1;CTB-158D10.3,non_coding_transcript_exon_variant,,ENST00000377652,;PNMAL2,intron_variant,,ENST00000594749,;PPP5D1,upstream_gene_variant,,ENST00000595691,;	T	ENST00000599531	Transcript	missense_variant	1637/5308	604/1908	202/635	L/M	Ctg/Atg		1		-1	PNMAL2	HGNC	HGNC:29206	protein_coding	YES	CCDS59400.1	ENSP00000473036	Q9ULN7		UPI0000237925	NM_020709.2	deleterious(0)		1/1		hmmpanther:PTHR23095:SF25,hmmpanther:PTHR23095																	MODERATE		SNV				1										PASS		.	.												T	3	4	73	46494862	46494862	G	T	1	0	0	0	0	1	0	0	0	12266	991	35	2		2	PNMAL2	19	46494862	Missense_Mutation	SNP	G	C3N-01074_TP	2205891	46494862	12122754	467	23904											
CA11	0	.	GRCh38	chr19	48639816	48639816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggctgagaatggccaggCcattggggccgcgggaggca	9	4	19	9	2	0	2	0	1	0	2	0	4	0	3	3	7	0	2	3	7	1	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.539G>T	p.Gly180Val	p.G180V	ENST00000084798	5/9	279	205	74	231	231	0	strelka-varscan-mutect	CA11,missense_variant,p.Gly180Val,ENST00000084798,NM_001217.3;DBP,upstream_gene_variant,,ENST00000222122,NM_001352.4;DBP,upstream_gene_variant,,ENST00000601104,;CA11,upstream_gene_variant,,ENST00000596080,;SEC1P,intron_variant,,ENST00000430145,;SEC1P,intron_variant,,ENST00000474419,;SEC1P,intron_variant,,ENST00000483163,;DBP,upstream_gene_variant,,ENST00000594723,;CA11,upstream_gene_variant,,ENST00000599267,;CA11,upstream_gene_variant,,ENST00000594088,;	A	ENST00000084798	Transcript	missense_variant	1219/1844	539/987	180/328	G/V	gGc/gTc		1		-1	CA11	HGNC	HGNC:1370	protein_coding	YES	CCDS12729.1	ENSP00000084798	O75493		UPI000004C652	NM_001217.3	deleterious(0)		5/9		PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF93,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057,Superfamily_domains:SSF51069																	MODERATE	1	SNV	1			1										PASS		rs1280737421	.												A	3	1	73	48639816	48639816	C	A	1	0	0	0	0	1	0	0	0	2198	739	26	2		2	CA11	19	48639816	Missense_Mutation	SNP	C	C3N-01074_TP	2144954	48639816	9977800	468	23905											
NTN5	0	.	GRCh38	chr19	48663520	48663520	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccctggtgtccgacatatTgcagtagttttgacactgag	9	13	10	9	1	0	2	0	2	0	0	1	3	1	2	2	1	2	3	2	1	3	6	rs570039276		C3N-01074_TP	C3N-01074_NB	T	T																c.1048A>T	p.Asn350Tyr	p.N350Y	ENST00000270235	6/7	202	148	54	211	211	0	strelka-varscan-mutect	NTN5,missense_variant,p.Asn350Tyr,ENST00000270235,NM_145807.2;NTN5,missense_variant,p.Asn31Tyr,ENST00000596844,;SEC1P,intron_variant,,ENST00000430145,;SEC1P,intron_variant,,ENST00000474419,;SEC1P,intron_variant,,ENST00000483163,;NTN5,non_coding_transcript_exon_variant,,ENST00000600468,;	A	ENST00000270235	Transcript	missense_variant	1144/1836	1048/1470	350/489	N/Y	Aat/Tat	rs570039276	1		-1	NTN5	HGNC	HGNC:25208	protein_coding	YES	CCDS33068.1	ENSP00000270235	Q8WTR8		UPI000007032D	NM_145807.2	deleterious(0.01)		6/7		PROSITE_profiles:PS50189,hmmpanther:PTHR10574,Gene3D:2.40.50.120,Superfamily_domains:SSF50242																	MODERATE	1	SNV	1			1										PASS		rs570039276	.												A	3	1	73	48663520	48663520	T	A	1	0	0	0	0	1	0	0	0	10768	1812	63	4		4	NTN5	19	48663520	Missense_Mutation	SNP	T	C3N-01074_TP	23704	48663520	9954096	469	23906											
KLK5	0	.	GRCh38	chr19	50943698	50943698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggttcgtgtagacacccGgtctgttgggccgggcacaa	8	8	15	10	3	1	2	0	0	1	2	2	2	1	2	2	4	0	4	2	4	2	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.815C>A	p.Pro272Gln	p.P272Q	ENST00000336334	6/6	195	133	62	154	154	0	strelka-varscan-mutect	KLK5,missense_variant,p.Pro272Gln,ENST00000336334,NM_012427.4;KLK5,missense_variant,p.Pro272Gln,ENST00000391809,NM_001077491.1;KLK5,missense_variant,p.Pro272Gln,ENST00000593428,NM_001077492.1;KLK5,non_coding_transcript_exon_variant,,ENST00000595585,;	T	ENST00000336334	Transcript	missense_variant	1168/1563	815/882	272/293	P/Q	cCg/cAg		1		-1	KLK5	HGNC	HGNC:6366	protein_coding	YES	CCDS12810.1	ENSP00000337733	Q9Y337	A0A024R4G4	UPI000003751F	NM_012427.4	deleterious(0)		6/6		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF270,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	50943698	50943698	G	T	1	0	0	0	0	1	0	0	0	8276	1116	39	1		1	KLK5	19	50943698	Missense_Mutation	SNP	G	C3N-01074_TP	2280178	50943698	7673918	470	23907											
SIGLECL1	0	.	GRCh38	chr19	51265537	51265537	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccaccatgcttggcccCtgggctaacagcaccatcag	9	8	8	16	0	1	0	1	0	0	0	2	0	2	0	5	2	3	3	5	2	1	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.192C>A	p.=	p.P64P	ENST00000316401	3/6	264	213	51	211	210	1	strelka-varscan-mutect	SIGLECL1,synonymous_variant,p.=,ENST00000316401,NM_173635.1;SIGLECL1,synonymous_variant,p.=,ENST00000614422,;SIGLECL1,synonymous_variant,p.=,ENST00000601727,;SIGLECL1,synonymous_variant,p.=,ENST00000597610,;SIGLECL1,intron_variant,,ENST00000597824,NM_001308437.1;SIGLECL1,downstream_gene_variant,,ENST00000596117,;CTD-3187F8.2,intron_variant,,ENST00000597569,;SIGLECL1,intron_variant,,ENST00000593968,;SIGLECL1,downstream_gene_variant,,ENST00000599553,;	A	ENST00000316401	Transcript	synonymous_variant	573/1708	192/594	64/197	P	ccC/ccA		1		1	SIGLECL1	HGNC	HGNC:26856	protein_coding	YES	CCDS12827.1	ENSP00000321249	Q8N7X8		UPI000006D35D	NM_173635.1			3/6		Gene3D:2.60.40.10,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF2,Superfamily_domains:SSF48726																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	73	51265537	51265537	C	A	1	0	0	0	0	0	0	0	1	14580	668	24	2		2	SIGLECL1	19	51265537	Silent	SNP	C	C3N-01074_TP	321839	51265537	7352079	471	23908											
SIGLEC8	0	.	GRCh38	chr19	51458089	51458089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcgttgctccaaatgtccCcaaggagttggaatcggccc	9	9	11	12	2	0	0	0	0	0	0	4	2	2	2	4	3	1	3	4	3	3	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.299G>T	p.Gly100Val	p.G100V	ENST00000321424	1/7	761	536	225	604	604	0	strelka-varscan-mutect	SIGLEC8,missense_variant,p.Gly100Val,ENST00000321424,NM_014442.2;SIGLEC8,missense_variant,p.Gly100Val,ENST00000430817,;SIGLEC8,missense_variant,p.Gly100Val,ENST00000340550,;SIGLEC8,upstream_gene_variant,,ENST00000597352,;	A	ENST00000321424	Transcript	missense_variant	366/2949	299/1500	100/499	G/V	gGg/gTg		1		-1	SIGLEC8	HGNC	HGNC:10877	protein_coding	YES	CCDS33086.1	ENSP00000321077	Q9NYZ4		UPI000013598B	NM_014442.2	deleterious(0)		1/7		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	51458089	51458089	C	A	1	0	0	0	0	1	0	0	0	14578	623	22	2		2	SIGLEC8	19	51458089	Missense_Mutation	SNP	C	C3N-01074_TP	192552	51458089	7159527	472	23909											
SIGLEC12	0	.	GRCh38	chr19	51491645	51491645	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtctctgcagtttctcacTtggggatgttgatctcggag	6	14	13	8	1	3	1	1	1	3	0	6	4	3	3	0	3	1	3	0	3	0	3	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.1784A>T	p.Lys595Met	p.K595M	ENST00000291707	8/8	307	217	90	238	238	0	strelka-varscan-mutect	SIGLEC12,missense_variant,p.Lys595Met,ENST00000291707,NM_053003.3;SIGLEC12,missense_variant,p.Lys477Met,ENST00000598614,NM_033329.2;CEACAM18,downstream_gene_variant,,ENST00000396477,NM_001278392.1;SIGLEC12,3_prime_UTR_variant,,ENST00000596742,;	A	ENST00000291707	Transcript	missense_variant	1840/2121	1784/1788	595/595	K/M	aAg/aTg		1		-1	SIGLEC12	HGNC	HGNC:15482	protein_coding	YES	CCDS12833.1	ENSP00000291707	Q96PQ1		UPI0000135992	NM_053003.3	deleterious(0)		8/8																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	51491645	51491645	T	A	1	0	0	0	0	1	0	0	0	14572	1623	56	4		4	SIGLEC12	19	51491645	Missense_Mutation	SNP	T	C3N-01074_TP	33556	51491645	7125971	473	23910											
HAS1	0	.	GRCh38	chr19	51713846	51713846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccttggccagtgccacgcCctgcacgcacagcagcaccc	7	4	10	20	3	0	0	0	0	0	0	0	0	0	0	5	1	4	4	5	1	0	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1318G>A	p.Gly440Ser	p.G440S	ENST00000222115	5/5	320	233	87	290	289	1	strelka-varscan-mutect	HAS1,missense_variant,p.Gly439Ser,ENST00000540069,NM_001297436.1;HAS1,missense_variant,p.Gly440Ser,ENST00000222115,NM_001523.3;HAS1,missense_variant,p.Gly447Ser,ENST00000601714,;HAS1,downstream_gene_variant,,ENST00000594621,;HAS1,downstream_gene_variant,,ENST00000601667,;SPACA6,downstream_gene_variant,,ENST00000573896,;	T	ENST00000222115	Transcript	missense_variant	1353/2087	1318/1737	440/578	G/S	Ggc/Agc		1		-1	HAS1	HGNC	HGNC:4818	protein_coding	YES	CCDS12838.1	ENSP00000222115	Q92839		UPI000006D531	NM_001523.3	tolerated(0.42)		5/5		Transmembrane_helices:TMhelix,hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	51713846	51713846	C	T	1	0	0	0	0	1	0	0	0	6847	623	22	3		3	HAS1	19	51713846	Missense_Mutation	SNP	C	C3N-01074_TP	222201	51713846	6903770	474	23911											
FPR1	0	.	GRCh38	chr19	51746060	51746060	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggaagggcgtggatcAgcctctcccggaagtcctgg	6	7	17	11	3	2	0	1	0	1	0	4	3	3	3	3	6	1	0	3	6	2	0	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.935T>A	p.Leu312Gln	p.L312Q	ENST00000595042	3/3	457	340	117	367	367	0	strelka-varscan-mutect	FPR1,missense_variant,p.Leu312Gln,ENST00000595042,NM_001193306.1;FPR1,missense_variant,p.Leu312Gln,ENST00000304748,NM_002029.3;FPR1,downstream_gene_variant,,ENST00000600815,;FPR1,downstream_gene_variant,,ENST00000594900,;	T	ENST00000595042	Transcript	missense_variant	1077/1965	935/1053	312/350	L/Q	cTg/cAg		1		-1	FPR1	HGNC	HGNC:3826	protein_coding	YES	CCDS12839.1	ENSP00000471493	P21462		UPI0000050484	NM_001193306.1	deleterious(0)		3/3		hmmpanther:PTHR24225:SF15,hmmpanther:PTHR24225,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00526																	MODERATE	1	SNV	2			1										PASS		rs1314613984	.												T	3	4	73	51746060	51746060	A	T	1	0	0	0	0	1	0	0	0	5904	188	7	4		4	FPR1	19	51746060	Missense_Mutation	SNP	A	C3N-01074_TP	32214	51746060	6871556	475	23912											
FPR2	0	.	GRCh38	chr19	51769067	51769067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgggcccagaaccacCgcactgtgagtctggccatg	8	7	12	14	1	2	2	0	1	2	1	2	2	2	2	4	2	1	1	4	2	1	0	rs763580618		C3N-01074_TP	C3N-01074_NB	C	C																c.409C>T	p.Arg137Cys	p.R137C	ENST00000598776	2/2	355	255	100	350	350	0	strelka-varscan-mutect	FPR2,missense_variant,p.Arg137Cys,ENST00000598776,NM_001462.3;FPR2,missense_variant,p.Arg137Cys,ENST00000340023,NM_001005738.1;FPR2,missense_variant,p.Arg137Cys,ENST00000598953,;FPR2,incomplete_terminal_codon_variant,p.=,ENST00000599326,;FPR1,intron_variant,,ENST00000594900,;FPR2,downstream_gene_variant,,ENST00000600258,;FPR2,downstream_gene_variant,,ENST00000600722,;	T	ENST00000598776	Transcript	missense_variant	1181/2621	409/1056	137/351	R/C	Cgc/Tgc	rs763580618,COSM4080708	1		1	FPR2	HGNC	HGNC:3827	protein_coding	YES	CCDS12840.1	ENSP00000468897	P25090	A0A024R4P3	UPI00000012D0	NM_001462.3	deleterious(0)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00526,PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF16,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs763580618	.												T	3	4	73	51769067	51769067	C	T	1	0	0	0	0	1	0	0	0	5905	652	23	1		1	FPR2	19	51769067	Missense_Mutation	SNP	C	C3N-01074_TP	23007	51769067	6848549	476	23913											
LILRA1	0	.	GRCh38	chr19	54596409	54596409	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgacctcagcccactcgggGacctacaggtgctacggctc	7	7	12	15	2	1	1	1	1	0	0	3	2	1	2	3	4	4	2	3	4	2	2	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1179G>C	p.=	p.G393G	ENST00000251372	7/10	710	486	224	575	575	0	strelka-varscan-mutect	LILRA1,synonymous_variant,p.=,ENST00000251372,NM_006863.3;LILRA1,synonymous_variant,p.=,ENST00000618665,;LILRA1,intron_variant,,ENST00000453777,NM_001278318.1;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,;	C	ENST00000251372	Transcript	synonymous_variant	1361/1910	1179/1470	393/489	G	ggG/ggC		1		1	LILRA1	HGNC	HGNC:6602	protein_coding	YES	CCDS12901.1	ENSP00000251372	O75019		UPI0000034C00	NM_006863.3			7/10		Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF117,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	73	54596409	54596409	G	C	1	0	0	0	0	0	0	0	1	8693	1161	41	4		4	LILRA1	19	54596409	Silent	SNP	G	C3N-01074_TP	2827342	54596409	4021207	477	23914											
NLRP7	0	.	GRCh38	chr19	54941681	54941681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgctccagaagggtctGcagagtccactctagctggg	8	8	13	12	0	2	2	0	0	2	2	4	2	4	2	2	2	4	4	2	2	2	1			C3N-01074_TP	C3N-01074_NB	G	G																c.31C>A	p.Gln11Lys	p.Q11K	ENST00000588756	4/13	120	109	11	149	148	1	strelka-varscan-mutect	NLRP7,missense_variant,p.Gln11Lys,ENST00000588756,;NLRP7,missense_variant,p.Gln11Lys,ENST00000328092,NM_139176.3;NLRP7,missense_variant,p.Gln11Lys,ENST00000592784,NM_001127255.1;NLRP7,missense_variant,p.Gln11Lys,ENST00000340844,NM_206828.3;NLRP7,missense_variant,p.Gln11Lys,ENST00000590030,;NLRP7,missense_variant,p.Gln11Lys,ENST00000590659,;NLRP7,missense_variant,p.Gln11Lys,ENST00000587103,;NLRP7,missense_variant,p.Gln11Lys,ENST00000587844,;NLRP7,missense_variant,p.Gln11Lys,ENST00000586379,;	T	ENST00000588756	Transcript	missense_variant	518/3826	31/3114	11/1037	Q/K	Cag/Aag	COSM4910748,COSM4910749,COSM4910750	1		-1	NLRP7	HGNC	HGNC:22947	protein_coding	YES	CCDS46183.1	ENSP00000467123	Q8WX94		UPI000174C6C4		tolerated(0.46)		4/13		Low_complexity_(Seg):seg,PROSITE_profiles:PS50824,hmmpanther:PTHR24106:SF14,hmmpanther:PTHR24106,Pfam_domain:PF02758,Gene3D:1.10.533.10,SMART_domains:SM01289,Superfamily_domains:SSF47986											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	73	54941681	54941681	G	T	1	0	0	0	0	1	0	0	0	10520	1328	46	2		2	NLRP7	19	54941681	Missense_Mutation	SNP	G	C3N-01074_TP	345272	54941681	3675935	478	23915											
NLRP2	0	.	GRCh38	chr19	54982177	54982177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagacaaagacaataggtGcaggtatatattgaagacga	19	8	10	4	1	0	4	0	1	0	3	0	5	0	4	0	2	1	2	0	2	9	6	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.479G>T	p.Cys160Phe	p.C160F	ENST00000543010	6/13	428	321	107	333	332	1	strelka-varscan-mutect	NLRP2,missense_variant,p.Cys160Phe,ENST00000543010,NM_001174081.1;NLRP2,missense_variant,p.Cys160Phe,ENST00000448584,NM_017852.3;NLRP2,missense_variant,p.Cys138Phe,ENST00000537859,NM_001174082.1;NLRP2,missense_variant,p.Cys157Phe,ENST00000263437,;NLRP2,missense_variant,p.Cys138Phe,ENST00000339757,;NLRP2,missense_variant,p.Cys136Phe,ENST00000391721,;NLRP2,missense_variant,p.Cys137Phe,ENST00000427260,NM_001174083.1;NLRP2,missense_variant,p.Cys91Phe,ENST00000585500,;NLRP2,missense_variant,p.Cys92Phe,ENST00000397169,;NLRP2,upstream_gene_variant,,ENST00000540005,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,downstream_gene_variant,,ENST00000588107,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;NLRP2,upstream_gene_variant,,ENST00000381637,;	T	ENST00000543010	Transcript	missense_variant	622/3576	479/3189	160/1062	C/F	tGc/tTc		1		1	NLRP2	HGNC	HGNC:22948	protein_coding	YES	CCDS12913.1	ENSP00000445135	Q9NX02		UPI000004C0CC	NM_001174081.1	tolerated(0.39)		6/13		hmmpanther:PTHR24106:SF129,hmmpanther:PTHR24106																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	54982177	54982177	G	T	1	0	0	0	0	1	0	0	0	10514	1319	46	2		2	NLRP2	19	54982177	Missense_Mutation	SNP	G	C3N-01074_TP	40496	54982177	3635439	479	23916											
ZNF835	0	.	GRCh38	chr19	56664336	56664336	+	Frame_Shift_Del	DEL	G	G	-																															gggtcaggtgcgcgatctgcGcgaaggccttggcgcactgg																										C3N-01074_TP	C3N-01074_NB	G	G																c.863delC	p.Ala288GlyfsTer6	p.A288Gfs*6	ENST00000537055	2/2	353	274	79	375	375	0	sindel-varindel-pindel	ZNF835,frameshift_variant,p.Ala288GlyfsTer6,ENST00000537055,NM_001005850.2;ZNF835,downstream_gene_variant,,ENST00000601659,;	-	ENST00000537055	Transcript	frameshift_variant	1095/3450	863/1614	288/537	A/X	gCg/gg	COSM2971119	1		-1	ZNF835	HGNC	HGNC:34332	protein_coding	YES	CCDS56105.1	ENSP00000444747	Q9Y2P0		UPI0000EE7244	NM_001005850.2			2/2		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF368,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						HIGH	1	deletion	2		1	1										PASS		.	.												-	7	5	73	56664336	56664336	G	-	1	0	1	0	1	0	0	0	0	18771	1087	38	0		0	ZNF835	19	56664336	Frame_Shift_Del	DEL	G	C3N-01074_TP	1682159	56664336	1953280	480	23917											
ANGPT4	0	.	GRCh38	chr20	890340	890340	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgctccagcttcgacCtcaagatcgtcttgatggcc	7	10	10	14	2	2	2	1	1	1	1	5	4	3	3	4	2	2	2	4	2	1	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.338G>T	p.Arg113Met	p.R113M	ENST00000381922	2/9	147	122	25	121	121	0	strelka-varscan-mutect	ANGPT4,missense_variant,p.Arg113Met,ENST00000381922,NM_015985.2;	A	ENST00000381922	Transcript	missense_variant	441/4676	338/1512	113/503	R/M	aGg/aTg		1		-1	ANGPT4	HGNC	HGNC:487	protein_coding	YES	CCDS13009.1	ENSP00000371347	Q9Y264		UPI0000062232	NM_015985.2	deleterious(0)		2/9		hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF31																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	890340	890340	C	A	1	0	0	0	0	1	0	0	0	710	681	24	2		2	ANGPT4	20	890340	Missense_Mutation	SNP	C	C3N-01074_TP		890340	63553827	481	23918											
TMC2	0	.	GRCh38	chr20	2613247	2613247	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaacgtacatcaccatcctGctgggggacttcctacgggc	8	9	11	13	2	1	0	1	0	0	0	3	1	3	1	3	3	4	3	3	3	3	4	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.1797G>C	p.=	p.L599L	ENST00000358864	14/20	214	177	37	230	230	0	strelka-varscan-mutect	TMC2,synonymous_variant,p.=,ENST00000358864,NM_080751.2;TMC2,non_coding_transcript_exon_variant,,ENST00000496948,;	C	ENST00000358864	Transcript	synonymous_variant	1812/3169	1797/2721	599/906	L	ctG/ctC		1		1	TMC2	HGNC	HGNC:16527	protein_coding	YES	CCDS13029.2	ENSP00000351732	Q8TDI7		UPI0000246C98	NM_080751.2			14/20		Transmembrane_helices:TMhelix,hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF17,Pfam_domain:PF07810																	LOW	1	SNV	1			1										PASS		rs1054308075	.												C	2	2	73	2613247	2613247	G	C	1	0	0	0	0	0	0	0	1	16431	1306	46	4		4	TMC2	20	2613247	Silent	SNP	G	C3N-01074_TP	1722907	2613247	61830920	482	23919											
LAMP5	0	.	GRCh38	chr20	9529659	9529659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagagcataaatgcccagtgGatgagcgggagcaactggaa	14	5	14	8	1	0	2	0	1	0	1	0	5	0	5	1	3	5	2	1	3	4	1			C3N-01074_TP	C3N-01074_NB	G	G																c.682G>A	p.Asp228Asn	p.D228N	ENST00000246070	6/6	104	61	43	116	116	0	strelka-varscan-mutect	LAMP5,missense_variant,p.Asp228Asn,ENST00000246070,NM_012261.3;LAMP5,missense_variant,p.Asp184Asn,ENST00000427562,NM_001199897.1;	A	ENST00000246070	Transcript	missense_variant	1174/2039	682/843	228/280	D/N	Gat/Aat	COSM5327010	1		1	LAMP5	HGNC	HGNC:16097	protein_coding	YES	CCDS13106.1	ENSP00000246070	Q9UJQ1		UPI0000128675	NM_012261.3	deleterious(0.01)		6/6		hmmpanther:PTHR11506,Pfam_domain:PF01299											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	73	9529659	9529659	G	A	1	0	0	0	0	1	0	0	0	8524	1174	41	3		3	LAMP5	20	9529659	Missense_Mutation	SNP	G	C3N-01074_TP	6916412	9529659	54914508	483	23920											
NINL	0	.	GRCh38	chr20	25476138	25476138	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatccttctctctctcCagcgctattttggtctcccc	4	16	5	16	1	4	0	1	0	3	0	9	0	6	0	4	1	1	1	4	1	1	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.3153G>A	p.=	p.L1051L	ENST00000278886	17/24	360	306	54	316	315	1	strelka-varscan-mutect	NINL,synonymous_variant,p.=,ENST00000278886,NM_025176.4;NINL,intron_variant,,ENST00000422516,NM_001318226.1;NINL,intron_variant,,ENST00000336104,;	T	ENST00000278886	Transcript	synonymous_variant	3227/4969	3153/4149	1051/1382	L	ctG/ctA		1		-1	NINL	HGNC	HGNC:29163	protein_coding	YES	CCDS33452.1	ENSP00000278886	Q9Y2I6		UPI0000206B64	NM_025176.4			17/24		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18905:SF12,hmmpanther:PTHR18905																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	73	25476138	25476138	C	T	1	0	0	0	0	0	0	0	1	10455	581	21	3		3	NINL	20	25476138	Silent	SNP	C	C3N-01074_TP	15946479	25476138	38968029	484	23921											
TTI1	0	.	GRCh38	chr20	38013076	38013076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgagctgttcatcagcCataatgaagctcactgtctt	9	15	7	10	0	4	2	3	2	1	0	4	2	4	2	1	0	3	3	1	0	2	5	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.741G>T	p.Met247Ile	p.M247I	ENST00000373448	3/9	269	242	27	298	298	0	strelka-varscan-mutect	TTI1,missense_variant,p.Met247Ile,ENST00000373448,NM_014657.2;TTI1,missense_variant,p.Met247Ile,ENST00000373447,NM_001303457.1;TTI1,missense_variant,p.Met247Ile,ENST00000449821,;TTI1,intron_variant,,ENST00000487362,;	A	ENST00000373448	Transcript	missense_variant	980/3958	741/3270	247/1089	M/I	atG/atT		1		-1	TTI1	HGNC	HGNC:29029	protein_coding	YES	CCDS13300.1	ENSP00000362547	O43156		UPI000012DB27	NM_014657.2	deleterious(0.01)		3/9		hmmpanther:PTHR18460,Gene3D:1.25.10.10,PIRSF_domain:PIRSF005250																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	38013076	38013076	C	A	1	0	0	0	0	1	0	0	0	17230	594	21	2		2	TTI1	20	38013076	Missense_Mutation	SNP	C	C3N-01074_TP	12536938	38013076	26431091	485	23922											
MYBL2	0	.	GRCh38	chr20	43699891	43699891	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctggacgcagtgcgaacAccagagcccttggaggaatt	11	7	13	10	2	1	1	0	0	1	1	1	6	1	4	2	3	3	1	2	3	2	2	rs762020366		C3N-01074_TP	C3N-01074_NB	A	A																c.798A>G	p.=	p.T266T	ENST00000217026	7/14	501	345	156	422	422	0	strelka-varscan-mutect	MYBL2,synonymous_variant,p.=,ENST00000396863,NM_001278610.1;MYBL2,synonymous_variant,p.=,ENST00000217026,NM_002466.3;	G	ENST00000217026	Transcript	synonymous_variant	925/2639	798/2103	266/700	T	acA/acG	rs762020366	1		1	MYBL2	HGNC	HGNC:7548	protein_coding	YES	CCDS13322.1	ENSP00000217026	P10244		UPI000012FAE1	NM_002466.3			7/14		hmmpanther:PTHR10641,hmmpanther:PTHR10641:SF461																	LOW	1	SNV	1			1										PASS		rs762020366	.												G	2	3	73	43699891	43699891	A	G	1	0	0	0	0	0	0	0	1	10010	146	6	5		5	MYBL2	20	43699891	Silent	SNP	A	C3N-01074_TP	5686815	43699891	20744276	486	23923											
OSER1	0	.	GRCh38	chr20	44197530	44197530	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcatcgagagaagtagagCtttctcctgcactgaactct	11	11	9	10	1	2	3	0	1	2	2	4	5	2	3	1	0	4	4	1	0	4	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.401G>T	p.Ser134Ile	p.S134I	ENST00000372970	6/6	473	403	70	486	486	0	strelka-varscan-mutect	OSER1,missense_variant,p.Ser134Ile,ENST00000372970,;OSER1,missense_variant,p.Ser134Ile,ENST00000255174,NM_016470.7;	A	ENST00000372970	Transcript	missense_variant	582/1616	401/879	134/292	S/I	aGc/aTc		1		-1	OSER1	HGNC	HGNC:16105	protein_coding	YES	CCDS13327.1	ENSP00000362061	Q9NX31		UPI000004A0E4		tolerated(0.19)		6/6		Pfam_domain:PF05604,hmmpanther:PTHR31383,hmmpanther:PTHR31383:SF2																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	73	44197530	44197530	C	A	1	0	0	0	0	1	0	0	0	11353	797	28	2		2	OSER1	20	44197530	Missense_Mutation	SNP	C	C3N-01074_TP	497639	44197530	20246637	487	23924											
PREX1	0	.	GRCh38	chr20	48642490	48642490	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagggcagctcatctcCtggcaggaggtagaagcagc	10	6	14	11	0	3	1	2	0	1	1	4	2	3	2	1	4	3	5	1	4	2	1	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.3602-1G>A		p.X1201_splice	ENST00000371941		59	47	12	71	71	0	strelka-mutect	PREX1,splice_acceptor_variant,,ENST00000371941,NM_020820.3;PREX1,non_coding_transcript_exon_variant,,ENST00000496915,;PREX1,splice_acceptor_variant,,ENST00000482556,;	T	ENST00000371941	Transcript	splice_acceptor_variant	-/6636	3602/4980	1201/1659				1		-1	PREX1	HGNC	HGNC:32594	protein_coding	YES	CCDS13410.1	ENSP00000361009	Q8TCU6		UPI000013D375	NM_020820.3				27/39																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	73	48642490	48642490	C	T	1	0	0	0	0	0	0	1	0	12610	695	24	3		3	PREX1	20	48642490	Splice_Site	SNP	C	C3N-01074_TP	4444960	48642490	15801677	488	23925											
SALL4	0	.	GRCh38	chr20	51791357	51791357	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttgtagagggccgcctCgtctttgggtttgacatcca	5	13	13	10	2	1	2	0	1	1	1	3	2	2	2	3	2	1	3	3	2	1	4			C3N-01074_TP	C3N-01074_NB	C	C																c.1126G>T	p.Glu376Ter	p.E376*	ENST00000217086	2/4	439	354	85	510	510	0	strelka-varscan-mutect	SALL4,stop_gained,p.Glu376Ter,ENST00000217086,NM_020436.3;SALL4,stop_gained,p.Glu376Ter,ENST00000395997,;SALL4,intron_variant,,ENST00000371539,;SALL4,downstream_gene_variant,,ENST00000483130,;SALL4,downstream_gene_variant,,ENST00000481363,;	A	ENST00000217086	Transcript	stop_gained	1238/5208	1126/3162	376/1053	E/*	Gag/Tag	COSM1240123	1		-1	SALL4	HGNC	HGNC:15924	protein_coding	YES	CCDS13438.1	ENSP00000217086	Q9UJQ4		UPI0000135527	NM_020436.3			2/4		hmmpanther:PTHR23233:SF19,hmmpanther:PTHR23233											1						HIGH	1	SNV	1		1	1										PASS		rs1428338003	.												A	4	1	73	51791357	51791357	C	A	1	0	0	0	0	0	1	0	0	14072	893	31	1		1	SALL4	20	51791357	Nonsense_Mutation	SNP	C	C3N-01074_TP	3148867	51791357	12652810	489	23926											
CASS4	0	.	GRCh38	chr20	56450616	56450616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggagccagagaagcagcaGttatatgacataccagccag	15	5	11	10	0	0	2	0	1	0	1	0	4	0	3	3	1	5	3	3	1	4	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.579G>T	p.Gln193His	p.Q193H	ENST00000360314	5/7	236	154	82	265	264	1	strelka-varscan-mutect	CASS4,missense_variant,p.Gln193His,ENST00000434344,NM_001164115.1;CASS4,missense_variant,p.Gln193His,ENST00000360314,NM_001164116.1,NM_020356.3,NM_001164114.1;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;	T	ENST00000360314	Transcript	missense_variant	804/2619	579/2361	193/786	Q/H	caG/caT		1		1	CASS4	HGNC	HGNC:15878	protein_coding	YES	CCDS33492.1	ENSP00000353462	Q9NQ75		UPI00001285DB	NM_001164116.1,NM_020356.3,NM_001164114.1	deleterious(0)		5/7		hmmpanther:PTHR10654:SF19,hmmpanther:PTHR10654																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	56450616	56450616	G	T	1	0	0	0	0	1	0	0	0	2382	1020	36	2		2	CASS4	20	56450616	Missense_Mutation	SNP	G	C3N-01074_TP	4659259	56450616	7993551	490	23927											
SYCP2	0	.	GRCh38	chr20	59881021	59881021	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcatgattccttggacctAcccttaaacaaaaatatgta	15	12	4	10	0	1	1	1	1	0	0	2	2	2	2	3	1	2	1	3	1	7	6	rs535578209		C3N-01074_TP	C3N-01074_NB	A	A																c.2717T>A	p.Val906Glu	p.V906E	ENST00000357552	30/45	133	99	34	194	194	0	strelka-varscan-mutect	SYCP2,missense_variant,p.Val906Glu,ENST00000357552,;SYCP2,missense_variant,p.Val906Glu,ENST00000371001,NM_014258.2;SYCP2,missense_variant,p.Val906Glu,ENST00000446834,;SYCP2,splice_region_variant,,ENST00000474749,;	T	ENST00000357552	Transcript	missense_variant,splice_region_variant	2943/5567	2717/4593	906/1530	V/E	gTa/gAa	rs535578209	1		-1	SYCP2	HGNC	HGNC:11490	protein_coding	YES	CCDS13482.1	ENSP00000350162	Q9BX26		UPI0000135683		tolerated(0.1)		30/45		hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12																	MODERATE	1	SNV	1			1										PASS		rs535578209	.												T	3	4	73	59881021	59881021	A	T	1	0	0	0	0	1	0	0	0	15822	405	14	4		4	SYCP2	20	59881021	Missense_Mutation	SNP	A	C3N-01074_TP	3430405	59881021	4563146	491	23928											
COL20A1	0	.	GRCh38	chr20	63321098	63321098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggacctcaaggaccccCagtgagtccagtggcgtctc	8	6	11	16	1	2	1	1	1	1	0	4	3	3	3	5	3	0	0	5	3	1	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.3239C>A	p.Pro1080Gln	p.P1080Q	ENST00000358894	26/36	204	124	80	145	145	0	strelka-varscan-mutect	COL20A1,missense_variant,p.Pro1087Gln,ENST00000422202,;COL20A1,missense_variant,p.Pro1080Gln,ENST00000358894,NM_020882.2;COL20A1,missense_variant,p.Pro183Gln,ENST00000415763,;COL20A1,missense_variant,p.Pro88Gln,ENST00000455906,;COL20A1,splice_region_variant,,ENST00000479501,;COL20A1,upstream_gene_variant,,ENST00000471582,;	A	ENST00000358894	Transcript	missense_variant,splice_region_variant	3339/4172	3239/3855	1080/1284	P/Q	cCa/cAa		1		1	COL20A1	HGNC	HGNC:14670	protein_coding	YES	CCDS46628.1	ENSP00000351767	Q9P218		UPI000051910D	NM_020882.2	deleterious(0)		26/36		Pfam_domain:PF01391,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF131,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	63321098	63321098	C	A	1	0	0	0	0	1	0	0	0	3467	608	21	2		2	COL20A1	20	63321098	Missense_Mutation	SNP	C	C3N-01074_TP	3440077	63321098	1123069	492	23929											
TPTE	0	.	GRCh38	chr21	10596040	10596041	+	Frame_Shift_Ins	INS	-	-	A																															tacaactggaatctccctccINSaagacggatactctttataa																								novel		C3N-01074_TP	C3N-01074_NB	-	-																c.1231dupA	p.Arg411LysfsTer20	p.R411Kfs*20	ENST00000618007	20/24	454	398	56	553	553	0	sindel-varindel-pindel	TPTE,frameshift_variant,p.Arg393LysfsTer20,ENST00000622113,NM_199259.3;TPTE,frameshift_variant,p.Arg411LysfsTer20,ENST00000618007,NM_199261.3;TPTE,frameshift_variant,p.Arg373LysfsTer20,ENST00000427445,NM_199260.3;TPTE,frameshift_variant,p.Arg273LysfsTer20,ENST00000612746,NM_001290224.1;AL078471.5,intron_variant,,ENST00000612267,;	A	ENST00000618007	Transcript	frameshift_variant	1559-1560/2150	1229-1230/1656	410/551	P/PX	cca/ccAa		1		1	TPTE	HGNC	HGNC:12023	protein_coding	YES	CCDS74771.1	ENSP00000484403	P56180		UPI000016A18A	NM_199261.3			20/24		hmmpanther:PTHR12305:SF56,hmmpanther:PTHR12305,Pfam_domain:PF10409,SMART_domains:SM01326,Superfamily_domains:SSF49562																	HIGH	1	insertion	1	2		1										PASS		.	.												A	7	5	73	10596040	10596040	-	A	1	0	1	1	0	0	0	0	0	16911	594	21	0		0	TPTE	21	10596040	Frame_Shift_Ins	INS	-	C3N-01074_TP		10596040	36113943	493	23930											
MRPL39	0	.	GRCh38	chr21	25592944	25592944	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaataagagggccctcactCacatcaatgaagtcacctat	14	8	8	11	0	4	2	4	1	0	1	4	3	4	3	2	2	0	0	2	2	5	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.789G>T	p.=	p.V263V	ENST00000307301	8/11	102	57	45	186	186	0	strelka-varscan-mutect	MRPL39,synonymous_variant,p.=,ENST00000307301,NM_080794.3;MRPL39,synonymous_variant,p.=,ENST00000352957,NM_017446.3;MRPL39,synonymous_variant,p.=,ENST00000419219,;	A	ENST00000307301	Transcript	synonymous_variant	831/1199	789/1062	263/353	V	gtG/gtT		1		-1	MRPL39	HGNC	HGNC:14027	protein_coding	YES	CCDS33522.1	ENSP00000305682	Q9NYK5		UPI00001AEAC0	NM_080794.3			8/11		Gene3D:1tkeA03,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF34,Superfamily_domains:SSF55186																	LOW	1	SNV	5			1										PASS		rs1457476495	.												A	2	1	73	25592944	25592944	C	A	1	0	0	0	0	0	0	0	1	9777	813	29	2		2	MRPL39	21	25592944	Silent	SNP	C	C3N-01074_TP	14996904	25592944	21117039	494	23931											
SYNJ1	0	.	GRCh38	chr21	32684120	32684120	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgtaccactctggcatCtgtaaccaataaagttaaat	15	11	6	9	0	2	0	0	0	2	0	2	1	2	0	2	1	3	4	2	1	8	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1236-1G>T		p.X412_splice	ENST00000433931		252	181	71	225	225	0	strelka-varscan-mutect	SYNJ1,splice_acceptor_variant,,ENST00000382499,NM_203446.2;SYNJ1,splice_acceptor_variant,,ENST00000357345,NM_001160302.1;SYNJ1,splice_acceptor_variant,,ENST00000382491,;SYNJ1,splice_acceptor_variant,,ENST00000630077,NM_001160306.1;SYNJ1,splice_acceptor_variant,,ENST00000433931,NM_003895.3;SYNJ1,splice_acceptor_variant,,ENST00000429236,;	A	ENST00000433931	Transcript	splice_acceptor_variant	-/4852	1236/4839	412/1612				1		-1	SYNJ1	HGNC	HGNC:11503	protein_coding	YES	CCDS33539.2	ENSP00000409667		J3KQV8	UPI0001A47572	NM_003895.3				9/31																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	73	32684120	32684120	C	A	1	0	0	0	0	0	0	1	0	15846	927	32	2		2	SYNJ1	21	32684120	Splice_Site	SNP	C	C3N-01074_TP	7091176	32684120	14025863	495	23932											
LSS	0	.	GRCh38	chr21	46209617	46209617	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaactcgggcctgtggtgCccgcccgcctggaagagaca	9	5	14	13	3	0	1	0	0	0	1	1	4	0	2	4	3	2	0	4	3	3	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.1203G>T	p.=	p.G401G	ENST00000397728	13/22	172	124	48	127	127	0	strelka-varscan-mutect	LSS,synonymous_variant,p.=,ENST00000397728,NM_002340.5;LSS,synonymous_variant,p.=,ENST00000457828,NM_001145437.1;LSS,synonymous_variant,p.=,ENST00000356396,NM_001001438.2;LSS,synonymous_variant,p.=,ENST00000522411,NM_001145436.1;	A	ENST00000397728	Transcript	synonymous_variant	1282/4936	1203/2199	401/732	G	ggG/ggT		1		-1	LSS	HGNC	HGNC:6708	protein_coding	YES	CCDS13733.1	ENSP00000380837	P48449		UPI000012A14D	NM_002340.5			13/22		Gene3D:1.50.10.20,Pfam_domain:PF13243,hmmpanther:PTHR11764,hmmpanther:PTHR11764:SF20,Superfamily_domains:SSF48239,TIGRFAM_domain:TIGR01787																	LOW	1	SNV	1			1										PASS		rs1426778237	.												A	2	1	73	46209617	46209617	C	A	1	0	0	0	0	0	0	0	1	8972	726	26	2		2	LSS	21	46209617	Silent	SNP	C	C3N-01074_TP	13525497	46209617	500366	496	23933											
MICAL3	0	.	GRCh38	chr22	17818490	17818490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccttccggctttggcaGgcccagccttttggggatgg	3	11	14	13	2	0	0	0	0	0	0	2	1	1	1	4	6	1	2	4	6	0	4	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.4171C>A	p.Leu1391Met	p.L1391M	ENST00000441493	26/32	174	146	28	209	209	0	strelka-varscan-mutect	MICAL3,missense_variant,p.Leu1391Met,ENST00000441493,NM_015241.2;MICAL3,upstream_gene_variant,,ENST00000577821,;MICAL3,downstream_gene_variant,,ENST00000498573,;MICAL3,downstream_gene_variant,,ENST00000578984,;MICAL3,upstream_gene_variant,,ENST00000579997,;MICAL3,upstream_gene_variant,,ENST00000580469,;	T	ENST00000441493	Transcript	missense_variant	4524/9445	4171/6009	1391/2002	L/M	Ctg/Atg		1		-1	MICAL3	HGNC	HGNC:24694	protein_coding	YES	CCDS46659.1	ENSP00000416015	Q7RTP6		UPI0001823FDE	NM_015241.2	tolerated_low_confidence(0.07)		26/32		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF239																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	73	17818490	17818490	G	T	1	0	0	0	0	1	0	0	0	9528	991	35	2		2	MICAL3	22	17818490	Missense_Mutation	SNP	G	C3N-01074_TP		17818490	32999978	497	23934											
TPST2	0	.	GRCh38	chr22	26541613	26541613	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggctgccagcagcaccctCcgcaccgacaggcgcatgct	7	4	11	19	4	0	0	0	0	0	0	1	1	1	0	5	2	4	6	5	2	0	0	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.18G>T	p.=	p.R6R	ENST00000338754	3/7	180	135	45	191	191	0	strelka-varscan-mutect	TPST2,synonymous_variant,p.=,ENST00000338754,NM_003595.3;TPST2,synonymous_variant,p.=,ENST00000403880,;TPST2,synonymous_variant,p.=,ENST00000398110,NM_001008566.1;TPST2,synonymous_variant,p.=,ENST00000442495,;TPST2,synonymous_variant,p.=,ENST00000454778,;TPST2,synonymous_variant,p.=,ENST00000440953,;TPST2,synonymous_variant,p.=,ENST00000450022,;TPST2,synonymous_variant,p.=,ENST00000453117,;TPST2,upstream_gene_variant,,ENST00000445720,;	A	ENST00000338754	Transcript	synonymous_variant	289/5697	18/1134	6/377	R	cgG/cgT		1		-1	TPST2	HGNC	HGNC:12021	protein_coding	YES	CCDS13839.1	ENSP00000339813	O60704	A0A024R1G9	UPI0000000C23	NM_003595.3			3/7		hmmpanther:PTHR12788,hmmpanther:PTHR12788:SF5,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	73	26541613	26541613	C	A	1	0	0	0	0	0	0	0	1	16909	842	30	2		2	TPST2	22	26541613	Silent	SNP	C	C3N-01074_TP	8723123	26541613	24276855	498	23935											
CRYBB1	0	.	GRCh38	chr22	26616140	26616140	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcacccccaggtccttacCctgtagttcccaggaggcag	7	8	10	16	0	0	0	0	0	0	0	2	1	2	1	5	3	2	4	5	3	2	3	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.180G>C	p.Arg60Ser	p.R60S	ENST00000215939	2/6	385	312	73	377	377	0	strelka-varscan-mutect	CRYBB1,missense_variant,p.Arg60Ser,ENST00000215939,NM_001887.3;	G	ENST00000215939	Transcript	missense_variant,splice_region_variant	311/1102	180/759	60/252	R/S	agG/agC		1		-1	CRYBB1	HGNC	HGNC:2397	protein_coding	YES	CCDS13840.1	ENSP00000215939	P53674		UPI000000165D	NM_001887.3	deleterious(0.01)		2/6		PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF12,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	73	26616140	26616140	C	G	1	0	0	0	0	1	0	0	0	3712	637	22	4		4	CRYBB1	22	26616140	Missense_Mutation	SNP	C	C3N-01074_TP	74527	26616140	24202328	499	23936											
BPIFC	0	.	GRCh38	chr22	32435809	32435809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtagagcatggagttgctGcgttctgggagcacaaaagg	11	9	15	6	1	1	1	0	0	1	1	1	3	1	3	0	3	4	6	0	3	3	3	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.819C>T	p.=	p.R273R	ENST00000397452	9/16	274	234	40	285	285	0	strelka-varscan-mutect	BPIFC,synonymous_variant,p.=,ENST00000397452,;BPIFC,synonymous_variant,p.=,ENST00000300399,NM_174932.2;BPIFC,synonymous_variant,p.=,ENST00000534972,;	A	ENST00000397452	Transcript	synonymous_variant	930/2091	819/1524	273/507	R	cgC/cgT		1		-1	BPIFC	HGNC	HGNC:16503	protein_coding	YES	CCDS13906.1	ENSP00000380594	Q8NFQ6		UPI0000071B53				9/16		hmmpanther:PTHR10504:SF17,hmmpanther:PTHR10504,Pfam_domain:PF02886,PIRSF_domain:PIRSF002417,Gene3D:1ewfA02,SMART_domains:SM00329,Superfamily_domains:SSF55394																	LOW	1	SNV	5			1										PASS		rs1363259632	.												A	2	1	73	32435809	32435809	G	A	1	0	0	0	0	0	0	0	1	1662	1306	46	3		3	BPIFC	22	32435809	Silent	SNP	G	C3N-01074_TP	5819669	32435809	18382659	500	23937											
FAM227A	0	.	GRCh38	chr22	38599818	38599818	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacattcttgccgtgctgcTgcagactggcatagttctgg	7	12	11	11	1	2	1	0	0	2	1	2	1	2	1	1	2	4	5	1	2	1	4	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.1310A>C	p.Gln437Pro	p.Q437P	ENST00000355830	14/19	169	142	27	184	184	0	strelka-varscan-mutect	FAM227A,missense_variant,p.Gln442Pro,ENST00000535113,NM_001291030.1,NM_001013647.1;FAM227A,missense_variant,p.Gln437Pro,ENST00000355830,;FAM227A,non_coding_transcript_exon_variant,,ENST00000540952,;FAM227A,non_coding_transcript_exon_variant,,ENST00000544346,;FAM227A,non_coding_transcript_exon_variant,,ENST00000541689,;	G	ENST00000355830	Transcript	missense_variant	1606/2417	1310/1941	437/646	Q/P	cAg/cCg		1		-1	FAM227A	HGNC	HGNC:44197	protein_coding	YES		ENSP00000348086		A0A0A0MRD0	UPI000165DBC2		tolerated(0.42)		14/19		hmmpanther:PTHR33560,hmmpanther:PTHR33560:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	73	38599818	38599818	T	G	1	0	0	0	0	1	0	0	0	5418	1580	55	5		5	FAM227A	22	38599818	Missense_Mutation	SNP	T	C3N-01074_TP	6164009	38599818	12218650	501	23938											
MAGEB5	0	.	GRCh38	chrX	26217994	26217994	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgatattgctccaggtgcCttctcatcacaatatgaaga	13	12	7	9	0	2	3	2	2	1	1	4	3	3	3	2	1	2	1	2	1	5	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.693C>A	p.=	p.A231A	ENST00000602297	2/2	149	83	66	188	188	0	strelka-varscan-mutect	MAGEB5,synonymous_variant,p.=,ENST00000602297,NM_001271752.1;	A	ENST00000602297	Transcript	synonymous_variant	940/1216	693/828	231/275	A	gcC/gcA		1		1	MAGEB5	HGNC	HGNC:23795	protein_coding	YES	CCDS65233.1	ENSP00000473493	Q9BZ81		UPI0000237754	NM_001271752.1			2/2		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF35																	LOW	1	SNV	3			1										PASS		.	.												A	2	1	73	26217994	26217994	C	A	1	0	0	0	0	0	0	0	1	9095	668	24	2		2	MAGEB5	23	26217994	Silent	SNP	C	C3N-01074_TP		26217994	129822901	502	23939											
MED14	0	.	GRCh38	chrX	40654458	40654458	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctgtctgggaatgtcTgcctgctgggttgtacctga	4	15	13	9	0	3	1	0	1	3	0	3	2	3	2	2	2	4	4	2	2	2	3	novel		C3N-01074_TP	C3N-01074_NB	T	T																c.4197A>T	p.=	p.A1399A	ENST00000324817	30/31	198	104	94	195	195	0	strelka-varscan-mutect	MED14,synonymous_variant,p.=,ENST00000324817,NM_004229.3;MED14,synonymous_variant,p.=,ENST00000433003,;MED14,synonymous_variant,p.=,ENST00000416199,;MED14,downstream_gene_variant,,ENST00000472736,;	A	ENST00000324817	Transcript	synonymous_variant	4316/7984	4197/4365	1399/1454	A	gcA/gcT		1		-1	MED14	HGNC	HGNC:2370	protein_coding	YES	CCDS14254.1	ENSP00000323720	O60244		UPI00001414B1	NM_004229.3			30/31		hmmpanther:PTHR12809																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	73	40654458	40654458	T	A	1	0	0	0	0	0	0	0	1	9371	1567	55	4		4	MED14	23	40654458	Silent	SNP	T	C3N-01074_TP	14436464	40654458	115386437	503	23940											
TSPYL2	0	.	GRCh38	chrX	53083189	53083189	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatctggaggcagtgaacAtcaaggcaggcaaagccttc	12	7	13	9	0	2	1	1	1	1	0	3	3	2	3	1	5	2	3	1	5	3	1	novel		C3N-01074_TP	C3N-01074_NB	A	A																c.691A>G	p.Ile231Val	p.I231V	ENST00000375442	1/7	255	180	75	264	264	0	strelka-varscan-mutect	TSPYL2,missense_variant,p.Ile231Val,ENST00000375442,NM_022117.3;TSPYL2,intron_variant,,ENST00000579390,;GPR173,downstream_gene_variant,,ENST00000332582,NM_018969.5;TSPYL2,missense_variant,p.Ile67Val,ENST00000578306,;TSPYL2,non_coding_transcript_exon_variant,,ENST00000556808,;TSPYL2,non_coding_transcript_exon_variant,,ENST00000553557,;TSPYL2,upstream_gene_variant,,ENST00000463525,;	G	ENST00000375442	Transcript	missense_variant	823/2815	691/2082	231/693	I/V	Atc/Gtc		1		1	TSPYL2	HGNC	HGNC:24358	protein_coding	YES	CCDS14350.1	ENSP00000364591	Q9H2G4		UPI000004B6D6	NM_022117.3	tolerated(0.08)		1/7		hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF72,Superfamily_domains:SSF143113																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	73	53083189	53083189	A	G	1	0	0	0	0	1	0	0	0	17167	217	8	5		5	TSPYL2	23	53083189	Missense_Mutation	SNP	A	C3N-01074_TP	12428731	53083189	102957706	504	23941											
TRO	0	.	GRCh38	chrX	54929435	54929435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttttggtggctctcccaGctccagtggtagctttggtg	3	15	13	10	0	1	0	0	0	1	0	3	0	2	0	2	4	2	5	2	4	1	4			C3N-01074_TP	C3N-01074_NB	G	G																c.2711G>T	p.Ser904Ile	p.S904I	ENST00000173898	12/13	90	59	31	145	145	0	strelka-varscan-mutect	TRO,missense_variant,p.Ser904Ile,ENST00000173898,NM_001039705.2;TRO,missense_variant,p.Ser435Ile,ENST00000420798,NM_001271183.1;TRO,missense_variant,p.Ser507Ile,ENST00000375041,NM_001271184.1;TRO,intron_variant,,ENST00000319167,NM_016157.3;TRO,intron_variant,,ENST00000375022,NM_177556.2;TRO,intron_variant,,ENST00000622017,;TRO,intron_variant,,ENST00000399736,NM_177557.2;PFKFB1,downstream_gene_variant,,ENST00000375006,NM_001271804.1,NM_002625.3;PFKFB1,downstream_gene_variant,,ENST00000545676,NM_001271805.1;PFKFB1,downstream_gene_variant,,ENST00000614686,;PFKFB1,downstream_gene_variant,,ENST00000374992,;TRO,downstream_gene_variant,,ENST00000431115,;SNORA11,downstream_gene_variant,,ENST00000408823,;TRO,intron_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000484031,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,intron_variant,,ENST00000445561,;TRO,downstream_gene_variant,,ENST00000469211,;	T	ENST00000173898	Transcript	missense_variant	2823/4647	2711/4296	904/1431	S/I	aGc/aTc	COSM4772339	1		1	TRO	HGNC	HGNC:12326	protein_coding	YES	CCDS43959.1	ENSP00000173898	Q12816		UPI000021208F	NM_001039705.2	deleterious(0)		12/13		Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	73	54929435	54929435	G	T	1	0	0	0	0	1	0	0	0	17079	971	34	2		2	TRO	23	54929435	Missense_Mutation	SNP	G	C3N-01074_TP	1846246	54929435	101111460	505	23942											
FAM46D	0	.	GRCh38	chrX	80443119	80443119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtgacaaaaatgccaagCtaaccaaagaatcctatcct	18	7	5	11	0	0	2	0	1	0	1	2	2	2	2	4	0	3	1	4	0	7	2	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.580C>A	p.Leu194Ile	p.L194I	ENST00000538312	5/5	141	104	37	156	156	0	strelka-varscan-mutect	FAM46D,missense_variant,p.Leu194Ile,ENST00000538312,NM_001170574.1;FAM46D,missense_variant,p.Leu194Ile,ENST00000308293,NM_152630.4;	A	ENST00000538312	Transcript	missense_variant	914/3106	580/1170	194/389	L/I	Cta/Ata		1		1	FAM46D	HGNC	HGNC:28399	protein_coding	YES	CCDS14446.1	ENSP00000443410	Q8NEK8		UPI0000073CF3	NM_001170574.1	tolerated(0.32)		5/5		hmmpanther:PTHR12974:SF30,hmmpanther:PTHR12974,Pfam_domain:PF07984,SMART_domains:SM01153																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	73	80443119	80443119	C	A	1	0	0	0	0	1	0	0	0	5446	796	28	2		2	FAM46D	23	80443119	Missense_Mutation	SNP	C	C3N-01074_TP	25513684	80443119	75597776	506	23943											
PCDH11X	0	.	GRCh38	chrX	91878657	91878657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagctgatgtatcctcacCaactagtgactatgtcaaga	13	11	8	9	0	2	3	2	2	0	1	3	4	3	3	2	0	2	2	2	0	6	4	novel		C3N-01074_TP	C3N-01074_NB	C	C																c.2417C>A	p.Pro806Gln	p.P806Q	ENST00000373094	2/7	223	106	117	217	217	0	strelka-varscan-mutect	PCDH11X,missense_variant,p.Pro806Gln,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Pro806Gln,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Pro806Gln,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Pro806Gln,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Pro806Gln,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Pro806Gln,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Pro806Gln,ENST00000395337,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000298274,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000361724,;	A	ENST00000373094	Transcript	missense_variant	3262/9179	2417/4044	806/1347	P/Q	cCa/cAa		1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4	tolerated(0.32)		2/7		Pfam_domain:PF08374,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF25																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	73	91878657	91878657	C	A	1	0	0	0	0	1	0	0	0	11595	594	21	2		2	PCDH11X	23	91878657	Missense_Mutation	SNP	C	C3N-01074_TP	11435538	91878657	64162238	507	23944											
TCEAL3	0	.	GRCh38	chrX	103609640	103609640	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggaggtaggggccagagGggcttacacgatatcccata	10	7	16	8	1	0	1	0	0	0	1	1	3	1	2	2	7	1	2	2	7	4	4	rs75427253		C3N-01074_TP	C3N-01074_NB	G	G																c.576G>A	p.=	p.R192R	ENST00000372628	3/3	70	66	4	121	121	0	varscan-mutect	TCEAL3,synonymous_variant,p.=,ENST00000372628,;TCEAL3,synonymous_variant,p.=,ENST00000243286,NM_001006933.1;TCEAL3,synonymous_variant,p.=,ENST00000372627,NM_032926.2;TCEAL3,intron_variant,,ENST00000477014,;	A	ENST00000372628	Transcript	synonymous_variant	934/1221	576/603	192/200	R	agG/agA	rs75427253	1		1	TCEAL3	HGNC	HGNC:28247	protein_coding	YES	CCDS14511.1	ENSP00000361711	Q969E4		UPI0000071CE7				3/3		hmmpanther:PTHR14754,hmmpanther:PTHR14754:SF17,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs75427253	.												A	2	1	73	103609640	103609640	G	A	1	0	0	0	0	0	0	0	1	16079	1223	43	3		3	TCEAL3	23	103609640	Silent	SNP	G	C3N-01074_TP	11730983	103609640	52431255	508	23945											
INTS6L	0	.	GRCh38	chrX	135577355	135577355	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaactaaccatgtgggcGgaaagggaccaccctcagcc	11	6	11	13	1	1	0	1	0	0	0	1	2	1	2	4	3	3	1	4	3	3	2	rs138551817		C3N-01074_TP	C3N-01074_NB	G	G																c.1936G>T	p.Gly646Ter	p.G646*	ENST00000370752	14/17	259	215	44	195	195	0	strelka-varscan-mutect	INTS6L,stop_gained,p.Gly646Ter,ENST00000370752,NM_182540.4;INTS6L,intron_variant,,ENST00000481908,;INTS6L,upstream_gene_variant,,ENST00000481429,;INTS6L,upstream_gene_variant,,ENST00000494957,;INTS6L,intron_variant,,ENST00000493637,;	T	ENST00000370752	Transcript	stop_gained	2270/3793	1936/2586	646/861	G/*	Gga/Tga	rs138551817	1		1	INTS6L	HGNC	HGNC:27334	protein_coding	YES	CCDS35401.1	ENSP00000359788	Q5JSJ4		UPI00004A3AAF	NM_182540.4			14/17		hmmpanther:PTHR12957,hmmpanther:PTHR12957:SF22																	HIGH	1	SNV	1			1										PASS		rs138551817	.												T	4	4	73	135577355	135577355	G	T	1	0	0	0	0	0	1	0	0	7685	1117	39	1		1	INTS6L	23	135577355	Nonsense_Mutation	SNP	G	C3N-01074_TP	31967715	135577355	20463540	509	23946											
GPR50	0	.	GRCh38	chrX	151180235	151180235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctggaccaaagtgctggcgGcccgtgaccctgcagggcag	7	6	15	13	2	1	1	0	1	1	0	1	2	1	2	3	4	2	3	3	4	1	0	novel		C3N-01074_TP	C3N-01074_NB	G	G																c.652G>T	p.Ala218Ser	p.A218S	ENST00000218316	2/2	141	51	90	116	116	0	strelka-varscan-mutect	GPR50,missense_variant,p.Ala218Ser,ENST00000218316,NM_004224.3;AF003625.3,upstream_gene_variant,,ENST00000602313,;GPR50-AS1,upstream_gene_variant,,ENST00000454196,;	T	ENST00000218316	Transcript	missense_variant	721/1951	652/1854	218/617	A/S	Gcc/Tcc		1		1	GPR50	HGNC	HGNC:4506	protein_coding	YES	CCDS44012.1	ENSP00000218316	Q13585		UPI000013C755	NM_004224.3	tolerated(0.18)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF51,hmmpanther:PTHR24242,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01151																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	73	151180235	151180235	G	T	1	0	0	0	0	1	0	0	0	6582	1203	42	2		2	GPR50	23	151180235	Missense_Mutation	SNP	G	C3N-01074_TP	15602880	151180235	4860660	510	23947											
AGRN	0	.	GRCh38	chr1	1046904	1046904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacaactccgcgttgggctGctgctctgatgggaagacgc	7	9	13	12	3	1	2	0	1	1	1	2	3	2	3	1	2	4	4	1	2	3	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.3335G>T	p.Cys1112Phe	p.C1112F	ENST00000379370	19/36	225	179	46	177	177	0	strelka-varscan-mutect	AGRN,missense_variant,p.Cys974Phe,ENST00000620552,NM_001305275.1;AGRN,missense_variant,p.Cys1112Phe,ENST00000379370,NM_198576.3;AGRN,upstream_gene_variant,,ENST00000419249,;AGRN,upstream_gene_variant,,ENST00000492947,;AGRN,downstream_gene_variant,,ENST00000479707,;AGRN,upstream_gene_variant,,ENST00000466223,;AGRN,upstream_gene_variant,,ENST00000478677,;	T	ENST00000379370	Transcript	missense_variant	3385/7323	3335/6138	1112/2045	C/F	tGc/tTc		1		1	AGRN	HGNC	HGNC:329	protein_coding	YES	CCDS30551.1	ENSP00000368678	O00468		UPI00001D7C8B	NM_198576.3	deleterious(0)		19/36		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF288																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	1046904	1046904	G	T	1	0	0	0	0	1	0	0	0	476	1319	46	2		2	AGRN	1	1046904	Missense_Mutation	SNP	G	C3N-01405_TP		1046904	247909518	1	23948											
TNFRSF9	0	.	GRCh38	chr1	7937697	7937697	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattatacgtactttgtccAgggtcgacagatgccacgtt	11	12	9	9	3	0	1	0	0	0	1	2	2	1	1	2	1	3	2	2	1	4	5	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.406T>C	p.Trp136Arg	p.W136R	ENST00000615230	6/9	150	128	22	147	147	0	strelka-varscan-mutect	TNFRSF9,missense_variant,p.Trp136Arg,ENST00000615230,NM_001561.5;TNFRSF9,missense_variant,p.Trp136Arg,ENST00000377507,;TNFRSF9,upstream_gene_variant,,ENST00000474475,;TNFRSF9,missense_variant,p.Trp58Arg,ENST00000492571,;RP5-892F13.2,upstream_gene_variant,,ENST00000603760,;	G	ENST00000615230	Transcript	missense_variant	667/5970	406/768	136/255	W/R	Tgg/Cgg		1		-1	TNFRSF9	HGNC	HGNC:11924	protein_coding	YES	CCDS92.1	ENSP00000478699	Q07011		UPI00001370F1	NM_001561.5	deleterious(0)		6/9		hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF136,Gene3D:2.10.50.10,SMART_domains:SM00208,Superfamily_domains:SSF57184																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	74	7937697	7937697	A	G	1	0	0	0	0	1	0	0	0	16774	188	7	5		5	TNFRSF9	1	7937697	Missense_Mutation	SNP	A	C3N-01405_TP	6890793	7937697	241018725	2	23949											
CASZ1	0	.	GRCh38	chr1	10654053	10654053	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagccggcgcggatgcagtgGaagtggttggtagccttgct	6	9	17	9	3	0	0	0	0	0	0	0	2	0	2	2	5	4	4	2	5	2	3	rs763713117		C3N-01405_TP	C3N-01405_NB	G	G																c.2004C>T	p.=	p.F668F	ENST00000377022	11/21	316	275	41	249	249	0	strelka-varscan-mutect	CASZ1,synonymous_variant,p.=,ENST00000377022,NM_001079843.2;CASZ1,synonymous_variant,p.=,ENST00000344008,NM_017766.4;RP4-734G22.3,non_coding_transcript_exon_variant,,ENST00000606802,;CASZ1,non_coding_transcript_exon_variant,,ENST00000496432,;CASZ1,downstream_gene_variant,,ENST00000492173,;CASZ1,upstream_gene_variant,,ENST00000490176,;	A	ENST00000377022	Transcript	synonymous_variant	2322/7936	2004/5280	668/1759	F	ttC/ttT	rs763713117	1		-1	CASZ1	HGNC	HGNC:26002	protein_coding	YES	CCDS41246.1	ENSP00000366221	Q86V15		UPI0000EBB7D6	NM_001079843.2			11/21		PROSITE_profiles:PS50157,hmmpanther:PTHR12451,hmmpanther:PTHR12451:SF0,SMART_domains:SM00355																	LOW	1	SNV	1			1										PASS		rs763713117	.												A	2	1	74	10654053	10654053	G	A	1	0	0	0	0	0	0	0	1	2384	1165	41	3		3	CASZ1	1	10654053	Silent	SNP	G	C3N-01405_TP	2716356	10654053	238302369	3	23950											
ACTL8	0	.	GRCh38	chr1	17823208	17823208	+	Missense_Mutation	SNP	T	T	A																															tgacacctttagctaccccaTcgagcggggccgcatcctca																								novel		C3N-01405_TP	C3N-01405_NB	T	T																c.200T>A	p.Ile67Asn	p.I67N	ENST00000375406	2/3	385	364	21	339	337	2	strelka-varscan-mutect	ACTL8,missense_variant,p.Ile67Asn,ENST00000375406,NM_030812.2;ACTL8,missense_variant,p.Ile67Asn,ENST00000617065,;	A	ENST00000375406	Transcript	missense_variant	416/1861	200/1101	67/366	I/N	aTc/aAc		1		1	ACTL8	HGNC	HGNC:24018	protein_coding	YES	CCDS183.1	ENSP00000364555	Q9H568		UPI000007008F	NM_030812.2	deleterious(0)		2/3		hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF208,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	17823208	17823208	T	A	1	0	0	0	0	1	0	0	0	246	1435	50	4		4	ACTL8	1	17823208	Missense_Mutation	SNP	T	C3N-01405_TP	7169155	17823208	231133214	4	23951	503	2									
ACTL8	0	.	GRCh38	chr1	17823209	17823209	+	Silent	SNP	C	C	A																															gacacctttagctaccccatCgagcggggccgcatcctcaa																								rs143679369		C3N-01405_TP	C3N-01405_NB	C	C																c.201C>A	p.=	p.I67I	ENST00000375406	2/3	383	361	22	333	333	0	strelka-varscan-mutect	ACTL8,synonymous_variant,p.=,ENST00000375406,NM_030812.2;ACTL8,synonymous_variant,p.=,ENST00000617065,;	A	ENST00000375406	Transcript	synonymous_variant	417/1861	201/1101	67/366	I	atC/atA	rs143679369	1		1	ACTL8	HGNC	HGNC:24018	protein_coding	YES	CCDS183.1	ENSP00000364555	Q9H568		UPI000007008F	NM_030812.2			2/3		hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF208,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190																	LOW	1	SNV	1			1										PASS		rs143679369	.												A	2	1	74	17823209	17823209	C	A	1	0	0	0	0	0	0	0	1	246	874	31	1		1	ACTL8	1	17823209	Silent	SNP	C	C3N-01405_TP	1	17823209	231133213	5	23952	503	2									
TAS1R2	0	.	GRCh38	chr1	18841753	18841753	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtggttgaggaaggtgcCgggaaggcagtcgatgcact	9	8	18	6	2	0	1	0	1	0	0	1	4	0	3	1	5	2	3	1	5	2	1	rs148798381		C3N-01405_TP	C3N-01405_NB	C	C																c.1567G>T	p.Gly523Cys	p.G523C	ENST00000375371	5/6	94	77	17	82	82	0	strelka-varscan-mutect	TAS1R2,missense_variant,p.Gly523Cys,ENST00000375371,NM_152232.2;	A	ENST00000375371	Transcript	missense_variant	1589/2542	1567/2520	523/839	G/C	Ggc/Tgc	rs148798381	1		-1	TAS1R2	HGNC	HGNC:14905	protein_coding	YES	CCDS187.1	ENSP00000364520	Q8TE23		UPI0000456168	NM_152232.2	deleterious(0)		5/6		hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF441,PROSITE_patterns:PS00980,Pfam_domain:PF07562																	MODERATE	1	SNV	2			1										PASS		rs148798381	.												A	3	1	74	18841753	18841753	C	A	1	0	0	0	0	1	0	0	0	15962	652	23	1		1	TAS1R2	1	18841753	Missense_Mutation	SNP	C	C3N-01405_TP	1018544	18841753	230114669	6	23953											
HNRNPR	0	.	GRCh38	chr1	23310999	23310999	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatatccacctctcccccCaccacgaccccgacctctaa	9	6	3	23	2	2	0	0	0	2	0	4	2	3	0	10	0	0	0	10	0	2	2	rs748400587		C3N-01405_TP	C3N-01405_NB	C	C																c.1366G>C	p.Gly456Arg	p.G456R	ENST00000374616	11/11	224	202	22	186	186	0	strelka-varscan-mutect	HNRNPR,missense_variant,p.Gly355Arg,ENST00000478691,NM_001102399.2,NM_001297621.1,NM_001102397.2;HNRNPR,missense_variant,p.Gly453Arg,ENST00000374612,NM_005826.4;HNRNPR,missense_variant,p.Gly456Arg,ENST00000374616,NM_001102398.2;HNRNPR,missense_variant,p.Gly453Arg,ENST00000302271,;HNRNPR,missense_variant,p.Gly314Arg,ENST00000606561,NM_001297622.1;HNRNPR,missense_variant,p.Gly415Arg,ENST00000427764,NM_001297620.1;HNRNPR,non_coding_transcript_exon_variant,,ENST00000476660,;HNRNPR,downstream_gene_variant,,ENST00000463552,;HNRNPR,downstream_gene_variant,,ENST00000470941,;HNRNPR,upstream_gene_variant,,ENST00000464516,;	G	ENST00000374616	Transcript	missense_variant	1475/2691	1366/1911	456/636	G/R	Ggg/Cgg	rs748400587,COSM425655,COSM425656	1		-1	HNRNPR	HGNC	HGNC:5047	protein_coding	YES	CCDS44085.1	ENSP00000363745	O43390		UPI000006F30B	NM_001102398.2	tolerated(0.43)		11/11		hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF482,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR01648											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs748400587	.												G	3	3	74	23310999	23310999	C	G	1	0	0	0	0	1	0	0	0	7167	594	21	4		4	HNRNPR	1	23310999	Missense_Mutation	SNP	C	C3N-01405_TP	4469246	23310999	225645423	7	23954											
SLC9A1	0	.	GRCh38	chr1	27102099	27102099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacagtgctggcaggatgcGctcggaaggcagggacttgg	8	6	19	8	2	0	0	0	0	0	0	1	4	0	4	0	7	2	4	0	7	1	1			C3N-01405_TP	C3N-01405_NB	G	G																c.1852C>T	p.Arg618Cys	p.R618C	ENST00000263980	9/12	278	248	30	245	245	0	strelka-varscan-mutect	SLC9A1,missense_variant,p.Arg618Cys,ENST00000263980,NM_003047.4;SLC9A1,downstream_gene_variant,,ENST00000374086,;SLC9A1,upstream_gene_variant,,ENST00000490329,;SLC9A1,non_coding_transcript_exon_variant,,ENST00000374089,;SLC9A1,non_coding_transcript_exon_variant,,ENST00000447808,;	A	ENST00000263980	Transcript	missense_variant	2428/4516	1852/2448	618/815	R/C	Cgc/Tgc	COSM907817	1		-1	SLC9A1	HGNC	HGNC:11071	protein_coding	YES	CCDS295.1	ENSP00000263980	P19634		UPI000012FD1B	NM_003047.4	deleterious(0)		9/12		Pfam_domain:PF16644,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF59,TIGRFAM_domain:TIGR00840											1						MODERATE	1	SNV	1		1	1										PASS		rs1189050207	.												A	3	1	74	27102099	27102099	G	A	1	0	0	0	0	1	0	0	0	14993	1087	38	1		1	SLC9A1	1	27102099	Missense_Mutation	SNP	G	C3N-01405_TP	3791100	27102099	221854323	8	23955											
ADGRB2	0	.	GRCh38	chr1	31741886	31741886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcccgtggcctggcacatgCggaagcggcgctgccagcct	5	6	15	15	4	0	0	0	0	0	0	0	1	0	1	4	4	5	2	4	4	1	0	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1499G>T	p.Arg500Leu	p.R500L	ENST00000373655	9/33	78	60	18	49	49	0	strelka-varscan-mutect	ADGRB2,missense_variant,p.Arg500Leu,ENST00000373658,;ADGRB2,missense_variant,p.Arg500Leu,ENST00000373655,NM_001294335.1;ADGRB2,missense_variant,p.Arg433Leu,ENST00000398542,;ADGRB2,missense_variant,p.Arg500Leu,ENST00000527361,NM_001294336.1;ADGRB2,missense_variant,p.Arg448Leu,ENST00000398556,;ADGRB2,missense_variant,p.Arg433Leu,ENST00000398547,;ADGRB2,missense_variant,p.Arg488Leu,ENST00000398538,;ADGRB2,missense_variant,p.Arg438Leu,ENST00000420125,;ADGRB2,missense_variant,p.Arg479Leu,ENST00000533175,;ADGRB2,non_coding_transcript_exon_variant,,ENST00000530134,;ADGRB2,downstream_gene_variant,,ENST00000468430,;ADGRB2,upstream_gene_variant,,ENST00000466109,;	A	ENST00000373655	Transcript	missense_variant	1841/5400	1499/4755	500/1584	R/L	cGc/cTc		1		-1	ADGRB2	HGNC	HGNC:944	protein_coding	YES	CCDS72747.1	ENSP00000362759	O60241		UPI000046FEC7	NM_001294335.1	deleterious(0.01)		9/33		PROSITE_profiles:PS50092,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF41,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		rs1222903561	.												A	3	1	74	31741886	31741886	C	A	1	0	0	0	0	1	0	0	0	356	768	27	1		1	ADGRB2	1	31741886	Missense_Mutation	SNP	C	C3N-01405_TP	4639787	31741886	217214536	9	23956											
GJB4	0	.	GRCh38	chr1	34761791	34761791	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggactgttacatctcccgGcccacggagaagaaggtctt	9	9	12	11	2	2	2	0	0	2	2	3	4	2	3	2	4	1	1	2	4	3	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.537G>T	p.=	p.R179R	ENST00000339480	2/2	282	241	41	230	230	0	strelka-varscan-mutect	GJB4,synonymous_variant,p.=,ENST00000339480,NM_153212.2;GJB5,downstream_gene_variant,,ENST00000338513,NM_005268.3;RP1-34M23.5,non_coding_transcript_exon_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	T	ENST00000339480	Transcript	synonymous_variant	907/2840	537/801	179/266	R	cgG/cgT		1		1	GJB4	HGNC	HGNC:4286	protein_coding	YES	CCDS383.1	ENSP00000345868	Q9NTQ9		UPI0000051E4B	NM_153212.2			2/2		Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206,PROSITE_patterns:PS00408,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF30,SMART_domains:SM01089																	LOW		SNV	2			1										PASS		.	.												T	2	4	74	34761791	34761791	G	T	1	0	0	0	0	0	0	0	1	6287	1190	42	2		2	GJB4	1	34761791	Silent	SNP	G	C3N-01405_TP	3019905	34761791	214194631	10	23957											
INPP5B	0	.	GRCh38	chr1	37931565	37931565	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccaggactttggtcttCgccccgagcgtccactggcc	5	8	11	17	3	1	0	0	0	1	0	3	2	2	1	6	3	1	0	6	3	0	2			C3N-01405_TP	C3N-01405_NB	C	C																c.880G>T	p.Glu294Ter	p.E294*	ENST00000373021	6/6	429	374	55	344	344	0	strelka-varscan-mutect	INPP5B,stop_gained,p.Glu294Ter,ENST00000373021,;INPP5B,intron_variant,,ENST00000373023,;INPP5B,intron_variant,,ENST00000458109,;INPP5B,intron_variant,,ENST00000373027,NM_001297434.1;INPP5B,intron_variant,,ENST00000373026,;INPP5B,intron_variant,,ENST00000373024,NM_005540.2;	A	ENST00000373021	Transcript	stop_gained	906/3934	880/960	294/319	E/*	Gaa/Taa	COSM4853980	1		-1	INPP5B	HGNC	HGNC:6077	protein_coding			ENSP00000362112		B1ARF3	UPI0000197DB9				6/6													1						HIGH		SNV	1		1	1										PASS		rs1205432572	.												A	4	1	74	37931565	37931565	C	A	1	0	0	0	0	0	1	0	0	7658	893	31	1		1	INPP5B	1	37931565	Nonsense_Mutation	SNP	C	C3N-01405_TP	3169774	37931565	211024857	11	23958											
TRIT1	0	.	GRCh38	chr1	39844623	39844623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctaagccatagacaggggGgacaatgggaccaggtccta	12	6	13	10	0	1	1	0	0	1	1	2	3	2	3	3	5	1	0	3	5	4	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1024C>T	p.Pro342Ser	p.P342S	ENST00000316891	9/11	208	188	20	156	156	0	strelka-varscan-mutect	TRIT1,missense_variant,p.Pro342Ser,ENST00000316891,NM_017646.4;TRIT1,missense_variant,p.Pro316Ser,ENST00000372818,NM_001312691.1;TRIT1,missense_variant,p.Pro38Ser,ENST00000537440,;TRIT1,missense_variant,p.Pro260Ser,ENST00000441669,NM_001312692.1;TRIT1,5_prime_UTR_variant,,ENST00000541099,;TRIT1,non_coding_transcript_exon_variant,,ENST00000491865,;TRIT1,non_coding_transcript_exon_variant,,ENST00000465417,;TRIT1,3_prime_UTR_variant,,ENST00000495175,;TRIT1,3_prime_UTR_variant,,ENST00000492612,;TRIT1,intron_variant,,ENST00000462797,;TRIT1,downstream_gene_variant,,ENST00000489945,;TRIT1,downstream_gene_variant,,ENST00000486825,;TRIT1,downstream_gene_variant,,ENST00000469476,;TRIT1,downstream_gene_variant,,ENST00000467774,;	A	ENST00000316891	Transcript	missense_variant	1039/2112	1024/1404	342/467	P/S	Ccc/Tcc		1		-1	TRIT1	HGNC	HGNC:20286	protein_coding	YES	CCDS30681.1	ENSP00000321810	Q9H3H1		UPI000006E2FB	NM_017646.4	deleterious(0)		9/11		HAMAP:MF_00185,PIRSF_domain:PIRSF039110,hmmpanther:PTHR11088,hmmpanther:PTHR11088:SF25																	MODERATE	1	SNV	1			1										PASS		rs1022582532	.												A	3	1	74	39844623	39844623	G	A	1	0	0	0	0	1	0	0	0	17058	1232	43	3		3	TRIT1	1	39844623	Missense_Mutation	SNP	G	C3N-01405_TP	1913058	39844623	209111799	12	23959											
MFSD2A	0	.	GRCh38	chr1	39968681	39968681	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgctgggcctgctgctcTtcaaaatgtaccccattgat	7	13	8	13	0	2	1	1	1	1	0	3	1	3	1	4	1	4	4	4	1	3	3	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.1504T>G	p.Phe502Val	p.F502V	ENST00000372809	13/14	267	244	23	236	236	0	strelka-varscan-mutect	MFSD2A,missense_variant,p.Phe502Val,ENST00000372809,NM_001136493.2;MFSD2A,missense_variant,p.Phe489Val,ENST00000372811,NM_032793.4,NM_001287809.1;MFSD2A,missense_variant,p.Phe333Val,ENST00000420632,NM_001287808.1;MFSD2A,downstream_gene_variant,,ENST00000434861,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000480630,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000483824,;MFSD2A,non_coding_transcript_exon_variant,,ENST00000491515,;MFSD2A,downstream_gene_variant,,ENST00000469745,;MFSD2A,downstream_gene_variant,,ENST00000481612,;MFSD2A,downstream_gene_variant,,ENST00000459917,;	G	ENST00000372809	Transcript	missense_variant	1647/2173	1504/1632	502/543	F/V	Ttc/Gtc		1		1	MFSD2A	HGNC	HGNC:25897	protein_coding	YES	CCDS44118.1	ENSP00000361895	Q8NA29		UPI0000072562	NM_001136493.2	deleterious(0.05)		13/14		Transmembrane_helices:TMhelix,hmmpanther:PTHR11328:SF29,hmmpanther:PTHR11328,Pfam_domain:PF13347,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	74	39968681	39968681	T	G	1	0	0	0	0	1	0	0	0	9487	1609	56	5		5	MFSD2A	1	39968681	Missense_Mutation	SNP	T	C3N-01405_TP	124058	39968681	208987741	13	23960											
NFYC	0	.	GRCh38	chr1	40747568	40747568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaactcccactggctcGtattaagaagattatgaaac	14	9	9	9	1	0	3	0	1	0	2	2	4	1	4	1	2	2	3	1	2	6	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.140G>A	p.Arg47His	p.R47H	ENST00000425457	3/11	205	185	20	198	198	0	strelka-varscan-mutect	NFYC,missense_variant,p.Arg47His,ENST00000372652,NM_001308115.1;NFYC,missense_variant,p.Arg47His,ENST00000308733,NM_001308114.1;NFYC,missense_variant,p.Arg47His,ENST00000447388,NM_014223.4;NFYC,missense_variant,p.Arg47His,ENST00000456393,NM_001142587.1;NFYC,missense_variant,p.Arg47His,ENST00000372653,NM_001142590.1;NFYC,missense_variant,p.Arg47His,ENST00000440226,;NFYC,missense_variant,p.Arg47His,ENST00000425457,NM_001142588.1;NFYC,missense_variant,p.Arg47His,ENST00000372654,;NFYC,missense_variant,p.Arg47His,ENST00000427410,NM_001142589.1;NFYC,missense_variant,p.Arg47His,ENST00000372651,;NFYC,missense_variant,p.Arg47His,ENST00000372669,;NFYC,missense_variant,p.Arg47His,ENST00000453631,;NFYC,missense_variant,p.Arg47His,ENST00000534399,;NFYC,missense_variant,p.Arg47His,ENST00000416859,;NFYC,missense_variant,p.Arg47His,ENST00000531464,;NFYC,missense_variant,p.Arg47His,ENST00000525290,;NFYC,intron_variant,,ENST00000530965,;NFYC,non_coding_transcript_exon_variant,,ENST00000467203,;NFYC,intron_variant,,ENST00000424419,;	A	ENST00000425457	Transcript	missense_variant	300/1536	140/1065	47/354	R/H	cGt/cAt		1		1	NFYC	HGNC	HGNC:7806	protein_coding	YES	CCDS44120.1	ENSP00000396620	Q13952		UPI0000D4DA2D	NM_001142588.1	deleterious(0.01)		3/11		Gene3D:1.10.20.10,Pfam_domain:PF00808,hmmpanther:PTHR10252,hmmpanther:PTHR10252:SF8,Superfamily_domains:SSF47113																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	74	40747568	40747568	G	A	1	0	0	0	0	1	0	0	0	10427	1145	40	1		1	NFYC	1	40747568	Missense_Mutation	SNP	G	C3N-01405_TP	778887	40747568	208208854	14	23961											
NFYC	0	.	GRCh38	chr1	40762929	40762929	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggagaaggtcagcaggtGcagattgtccaggctcagcc	9	8	15	9	0	2	2	2	0	0	2	3	3	3	2	2	4	3	4	2	4	1	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.603G>T	p.=	p.V201V	ENST00000425457	7/11	78	67	11	79	79	0	strelka-varscan-mutect	NFYC,synonymous_variant,p.=,ENST00000372652,NM_001308115.1;NFYC,synonymous_variant,p.=,ENST00000308733,NM_001308114.1;NFYC,synonymous_variant,p.=,ENST00000447388,NM_014223.4;NFYC,synonymous_variant,p.=,ENST00000456393,NM_001142587.1;NFYC,synonymous_variant,p.=,ENST00000440226,;NFYC,synonymous_variant,p.=,ENST00000425457,NM_001142588.1;NFYC,synonymous_variant,p.=,ENST00000372654,;NFYC,synonymous_variant,p.=,ENST00000427410,NM_001142589.1;NFYC,synonymous_variant,p.=,ENST00000372651,;NFYC,synonymous_variant,p.=,ENST00000372669,;NFYC,synonymous_variant,p.=,ENST00000414185,;NFYC,synonymous_variant,p.=,ENST00000416859,;NFYC,intron_variant,,ENST00000372653,NM_001142590.1;NFYC,downstream_gene_variant,,ENST00000525290,;NFYC,upstream_gene_variant,,ENST00000483091,;NFYC,non_coding_transcript_exon_variant,,ENST00000424419,;NFYC,non_coding_transcript_exon_variant,,ENST00000525349,;NFYC,downstream_gene_variant,,ENST00000467203,;	T	ENST00000425457	Transcript	synonymous_variant	763/1536	603/1065	201/354	V	gtG/gtT		1		1	NFYC	HGNC	HGNC:7806	protein_coding	YES	CCDS44120.1	ENSP00000396620	Q13952		UPI0000D4DA2D	NM_001142588.1			7/11		hmmpanther:PTHR10252,hmmpanther:PTHR10252:SF8,Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		rs941749774	.												T	2	4	74	40762929	40762929	G	T	1	0	0	0	0	0	0	0	1	10427	1306	46	2		2	NFYC	1	40762929	Silent	SNP	G	C3N-01405_TP	15361	40762929	208193493	15	23962											
MAST2	0	.	GRCh38	chr1	46031160	46031160	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccctcaggaggcaaccAcaggagggtatatgggtcct	11	6	13	11	0	1	0	1	0	0	0	2	2	2	2	3	5	2	3	3	5	3	2	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.2862A>G	p.=	p.P954P	ENST00000361297	23/29	54	44	10	35	35	0	strelka-varscan-mutect	MAST2,synonymous_variant,p.=,ENST00000361297,NM_001324320.1,NM_001319245.1,NM_015112.2;MAST2,synonymous_variant,p.=,ENST00000372009,;MAST2,downstream_gene_variant,,ENST00000372008,;MAST2,downstream_gene_variant,,ENST00000477968,;MAST2,upstream_gene_variant,,ENST00000492813,;	G	ENST00000361297	Transcript	synonymous_variant	3145/5738	2862/5397	954/1798	P	ccA/ccG		1		1	MAST2	HGNC	HGNC:19035	protein_coding	YES	CCDS41326.1	ENSP00000354671	Q6P0Q8		UPI0000458AEB	NM_001324320.1,NM_001319245.1,NM_015112.2			23/29																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	74	46031160	46031160	A	G	1	0	0	0	0	0	0	0	1	9251	146	6	5		5	MAST2	1	46031160	Silent	SNP	A	C3N-01405_TP	5268231	46031160	202925262	16	23963											
DMBX1	0	.	GRCh38	chr1	46511195	46511195	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaccgtgaggaggacccCagggcaggggctgaggaccc	8	2	18	13	2	0	2	0	2	0	0	0	6	0	6	5	7	0	2	5	7	0	0	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.594C>A	p.=	p.P198P	ENST00000360032	3/4	179	145	34	122	122	0	strelka-varscan-mutect	DMBX1,synonymous_variant,p.=,ENST00000371956,NM_147192.2;DMBX1,synonymous_variant,p.=,ENST00000360032,NM_172225.1;	A	ENST00000360032	Transcript	synonymous_variant	608/2880	594/1134	198/377	P	ccC/ccA		1		1	DMBX1	HGNC	HGNC:19026	protein_coding	YES	CCDS536.1	ENSP00000353132	Q8NFW5		UPI0000070B63	NM_172225.1			3/4																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	46511195	46511195	C	A	1	0	0	0	0	0	0	0	1	4385	581	21	2		2	DMBX1	1	46511195	Silent	SNP	C	C3N-01405_TP	480035	46511195	202445227	17	23964											
FOXD2	0	.	GRCh38	chr1	47438600	47438600	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgttgagcgagatctgcgaGttcatcagcggccgcttccc	7	9	12	13	5	3	2	2	1	1	1	4	4	4	2	2	1	3	3	2	1	0	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.465G>C	p.Glu155Asp	p.E155D	ENST00000334793	1/1	468	351	117	338	338	0	strelka-varscan-mutect	FOXD2,missense_variant,p.Glu155Asp,ENST00000334793,NM_004474.3;FOXD2-AS1,upstream_gene_variant,,ENST00000445551,;	C	ENST00000334793	Transcript	missense_variant	2584/4675	465/1488	155/495	E/D	gaG/gaC		1		1	FOXD2	HGNC	HGNC:3803	protein_coding	YES	CCDS30708.1	ENSP00000335493	O60548		UPI000014153E	NM_004474.3	tolerated(0.3)		1/1		Gene3D:1.10.10.10,Pfam_domain:PF00250,Prints_domain:PR00053,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF168,SMART_domains:SM00339,Superfamily_domains:SSF46785																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	74	47438600	47438600	G	C	1	0	0	0	0	1	0	0	0	5857	1020	36	4		4	FOXD2	1	47438600	Missense_Mutation	SNP	G	C3N-01405_TP	927405	47438600	201517822	18	23965											
LRRC53	0	.	GRCh38	chr1	74480345	74480345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcattcctgagcgtgtGagcagaagacttaatgtagt	10	12	12	7	1	0	4	0	2	0	2	1	4	1	4	1	1	2	3	1	1	3	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.712C>A	p.His238Asn	p.H238N	ENST00000294635	3/5	205	175	30	177	176	1	strelka-varscan-mutect	LRRC53,missense_variant,p.His238Asn,ENST00000294635,;TNNI3K,intron_variant,,ENST00000326637,NM_015978.2;FPGT-TNNI3K,intron_variant,,ENST00000557284,NM_001112808.2;	T	ENST00000294635	Transcript	missense_variant	827/3859	712/3744	238/1247	H/N	Cac/Aac		1		-1	LRRC53	HGNC	HGNC:25255	protein_coding	YES		ENSP00000294635	A6NM62		UPI000178DEDE		tolerated(0.06)		3/5		Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	74	74480345	74480345	G	T	1	0	0	0	0	1	0	0	0	8905	1290	45	2		2	LRRC53	1	74480345	Missense_Mutation	SNP	G	C3N-01405_TP	27041745	74480345	174476077	19	23966											
RABGGTB	0	.	GRCh38	chr1	75791549	75791549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatttggttgcagaccagGttctgaatcccatgctgggc	7	12	13	9	0	1	2	0	1	1	1	2	3	2	3	2	4	2	4	2	4	1	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.557G>T	p.Gly186Val	p.G186V	ENST00000319942	6/9	196	168	28	144	144	0	strelka-varscan-mutect	RABGGTB,missense_variant,p.Gly186Val,ENST00000319942,NM_004582.3;RABGGTB,downstream_gene_variant,,ENST00000370826,;SNORD45A,downstream_gene_variant,,ENST00000384512,;SNORD45C,downstream_gene_variant,,ENST00000383893,;SNORD45B,downstream_gene_variant,,ENST00000364617,;RABGGTB,non_coding_transcript_exon_variant,,ENST00000496055,;RABGGTB,non_coding_transcript_exon_variant,,ENST00000471759,;RABGGTB,non_coding_transcript_exon_variant,,ENST00000461653,;RABGGTB,non_coding_transcript_exon_variant,,ENST00000491266,;RABGGTB,non_coding_transcript_exon_variant,,ENST00000470201,;RABGGTB,non_coding_transcript_exon_variant,,ENST00000485459,;RABGGTB,non_coding_transcript_exon_variant,,ENST00000473406,;RABGGTB,non_coding_transcript_exon_variant,,ENST00000467748,;RABGGTB,downstream_gene_variant,,ENST00000497648,;RABGGTB,upstream_gene_variant,,ENST00000459697,;RABGGTB,downstream_gene_variant,,ENST00000489450,;RABGGTB,downstream_gene_variant,,ENST00000462042,;ACADM,downstream_gene_variant,,ENST00000528016,;	T	ENST00000319942	Transcript	missense_variant	628/1496	557/996	186/331	G/V	gGt/gTt		1		1	RABGGTB	HGNC	HGNC:9796	protein_coding	YES	CCDS669.1	ENSP00000317473	P53611	Q6IB63	UPI0000131891	NM_004582.3	deleterious(0)		6/9		Gene3D:1.50.10.20,Pfam_domain:PF00432,hmmpanther:PTHR11774,hmmpanther:PTHR11774:SF11,Superfamily_domains:SSF48239																	MODERATE	1	SNV	1			1										PASS		rs1175443975	.												T	3	4	74	75791549	75791549	G	T	1	0	0	0	0	1	0	0	0	13127	1261	44	2		2	RABGGTB	1	75791549	Missense_Mutation	SNP	G	C3N-01405_TP	1311204	75791549	173164873	20	23967											
COL11A1	0	.	GRCh38	chr1	102995882	102995882	+	Missense_Mutation	SNP	C	C	A																															accttttcacctttagatccCttgagacctctgacaccatc																								rs140608161		C3N-01405_TP	C3N-01405_NB	C	C																c.2322G>T	p.Lys774Asn	p.K774N	ENST00000370096	28/67	254	204	50	280	280	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Lys786Asn,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Lys774Asn,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Lys735Asn,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Lys658Asn,ENST00000512756,NM_080630.3;COL11A1,missense_variant,p.Lys547Asn,ENST00000635193,;	A	ENST00000370096	Transcript	missense_variant	2635/7286	2322/5421	774/1806	K/N	aaG/aaT	rs140608161	1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0)		28/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42																	MODERATE	1	SNV	1			1										PASS		rs140608161	.												A	3	1	74	102995882	102995882	C	A	1	0	0	0	0	1	0	0	0	3455	680	24	2		2	COL11A1	1	102995882	Missense_Mutation	SNP	C	C3N-01405_TP	27204333	102995882	145960540	21	23968	504	2									
COL11A1	0	.	GRCh38	chr1	102995884	102995884	+	Nonsense_Mutation	SNP	T	T	A																															cttttcacctttagatccctTgagacctctgacaccatctg																								novel		C3N-01405_TP	C3N-01405_NB	T	T																c.2320A>T	p.Lys774Ter	p.K774*	ENST00000370096	28/67	252	201	51	286	286	0	strelka-varscan-mutect	COL11A1,stop_gained,p.Lys786Ter,ENST00000358392,NM_080629.2;COL11A1,stop_gained,p.Lys774Ter,ENST00000370096,NM_001854.3;COL11A1,stop_gained,p.Lys735Ter,ENST00000353414,NM_001190709.1;COL11A1,stop_gained,p.Lys658Ter,ENST00000512756,NM_080630.3;COL11A1,stop_gained,p.Lys547Ter,ENST00000635193,;	A	ENST00000370096	Transcript	stop_gained	2633/7286	2320/5421	774/1806	K/*	Aag/Tag		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3			28/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	74	102995884	102995884	T	A	1	0	0	0	0	0	1	0	0	3455	1821	63	4		4	COL11A1	1	102995884	Nonsense_Mutation	SNP	T	C3N-01405_TP	2	102995884	145960538	22	23969	504	2									
COL11A1	0	.	GRCh38	chr1	103004618	103004618	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaacataccctcattccaTcatcaccaggaggacctgga	13	9	6	13	0	3	0	3	0	0	0	4	3	4	3	4	3	2	0	4	3	2	3	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.1889A>T	p.Asp630Val	p.D630V	ENST00000370096	19/67	265	213	52	278	278	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Asp642Val,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Asp630Val,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Asp591Val,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Asp514Val,ENST00000512756,NM_080630.3;COL11A1,downstream_gene_variant,,ENST00000427239,;COL11A1,non_coding_transcript_exon_variant,,ENST00000461720,;COL11A1,upstream_gene_variant,,ENST00000475980,;COL11A1,missense_variant,p.Asp403Val,ENST00000635193,;	A	ENST00000370096	Transcript	missense_variant	2202/7286	1889/5421	630/1806	D/V	gAt/gTt		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0.02)		19/67		Pfam_domain:PF01391,Pfam_domain:PF01391,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	103004618	103004618	T	A	1	0	0	0	0	1	0	0	0	3455	1435	50	4		4	COL11A1	1	103004618	Missense_Mutation	SNP	T	C3N-01405_TP	8734	103004618	145951804	23	23970											
AMY2B	0	.	GRCh38	chr1	103579453	103579453	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatttttctattagtaacTctgctgaggatccatttatt	9	19	5	8	0	3	1	1	1	2	0	4	2	4	2	1	1	2	2	1	1	4	8	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.1489T>G	p.Ser497Ala	p.S497A	ENST00000361355	12/12	281	241	40	304	304	0	strelka-varscan-mutect	AMY2B,missense_variant,p.Ser497Ala,ENST00000361355,NM_020978.4;AMY2B,missense_variant,p.Ser497Ala,ENST00000610648,;AMY2B,non_coding_transcript_exon_variant,,ENST00000491397,;AMY2B,non_coding_transcript_exon_variant,,ENST00000481821,;AMY2B,downstream_gene_variant,,ENST00000462971,;AMY2B,3_prime_UTR_variant,,ENST00000477657,;	G	ENST00000361355	Transcript	missense_variant	2105/2181	1489/1536	497/511	S/A	Tct/Gct		1		1	AMY2B	HGNC	HGNC:478	protein_coding	YES	CCDS782.1	ENSP00000354610	P19961		UPI0000000CB1	NM_020978.4	tolerated(0.37)		12/12		hmmpanther:PTHR10357:SF105,hmmpanther:PTHR10357,Pfam_domain:PF02806,Gene3D:2.60.40.1180,SMART_domains:SM00632,Superfamily_domains:SSF51011																	MODERATE	1	SNV	1			1										PASS		rs1160741045	.												G	3	3	74	103579453	103579453	T	G	1	0	0	0	0	1	0	0	0	692	1551	54	5		5	AMY2B	1	103579453	Missense_Mutation	SNP	T	C3N-01405_TP	574835	103579453	145376969	24	23971											
SPAG17	0	.	GRCh38	chr1	117996406	117996406	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctcttggagaacaacagTatttgattctttatatgcca	11	15	8	7	0	2	2	0	1	2	1	2	3	2	2	1	2	3	2	1	2	5	7	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.5017A>T	p.Thr1673Ser	p.T1673S	ENST00000336338	34/49	100	81	19	97	97	0	strelka-mutect	SPAG17,missense_variant,p.Thr1673Ser,ENST00000336338,NM_206996.2;SPAG17,missense_variant,p.Thr153Ser,ENST00000437255,;	A	ENST00000336338	Transcript	missense_variant	5083/6924	5017/6672	1673/2223	T/S	Act/Tct		1		-1	SPAG17	HGNC	HGNC:26620	protein_coding	YES	CCDS899.1	ENSP00000337804	Q6Q759		UPI00001601FD	NM_206996.2	deleterious(0.04)		34/49		hmmpanther:PTHR21963																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	117996406	117996406	T	A	1	0	0	0	0	1	0	0	0	15310	1638	57	4		4	SPAG17	1	117996406	Missense_Mutation	SNP	T	C3N-01405_TP	14416953	117996406	130960016	25	23972											
SF3B4	0	.	GRCh38	chr1	149924014	149924014	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caagctgcatctgagacatcCctatgaaaataaaatagaca	18	8	6	9	0	1	3	0	2	1	2	2	4	2	3	1	0	2	2	1	0	7	3	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.914G>C	p.Gly305Ala	p.G305A	ENST00000271628	5/6	360	174	186	166	166	0	strelka-varscan-mutect	SF3B4,missense_variant,p.Gly305Ala,ENST00000271628,NM_005850.4;MTMR11,downstream_gene_variant,,ENST00000439741,NM_001145862.1;MTMR11,downstream_gene_variant,,ENST00000369140,NM_181873.3;SF3B4,downstream_gene_variant,,ENST00000457312,;MTMR11,downstream_gene_variant,,ENST00000492824,;MTMR11,downstream_gene_variant,,ENST00000482025,;MTMR11,downstream_gene_variant,,ENST00000466496,;MTMR11,downstream_gene_variant,,ENST00000482343,;	G	ENST00000271628	Transcript	missense_variant,splice_region_variant	1499/2085	914/1275	305/424	G/A	gGg/gCg		1		-1	SF3B4	HGNC	HGNC:10771	protein_coding	YES	CCDS72900.1	ENSP00000271628	Q15427		UPI0000135472	NM_005850.4	tolerated(0.31)		5/6		Low_complexity_(Seg):seg,Prints_domain:PR01217																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	149924014	149924014	C	G	1	0	0	0	0	1	0	0	0	14431	637	22	4		4	SF3B4	1	149924014	Missense_Mutation	SNP	C	C3N-01405_TP	31927608	149924014	99032408	26	23973											
LCE2D	0	.	GRCh38	chr1	152664221	152664221	+	Missense_Mutation	SNP	C	C	A																															cccaccacagtgcccagctcCatgttcccctgcagtctctt																								novel		C3N-01405_TP	C3N-01405_NB	C	C																c.116C>A	p.Pro39Gln	p.P39Q	ENST00000368784	2/2	455	429	26	237	237	0	varscan-mutect	LCE2D,missense_variant,p.Pro39Gln,ENST00000368784,NM_178430.3;	A	ENST00000368784	Transcript	missense_variant	171/609	116/333	39/110	P/Q	cCa/cAa		1		1	LCE2D	HGNC	HGNC:16518	protein_coding	YES	CCDS1018.1	ENSP00000357773	Q5TA82		UPI00001927D4	NM_178430.3	tolerated_low_confidence(0.66)		2/2		Prints_domain:PR00021,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF51,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	152664221	152664221	C	A	1	0	0	0	0	1	0	0	0	8573	594	21	2		2	LCE2D	1	152664221	Missense_Mutation	SNP	C	C3N-01405_TP	2740207	152664221	96292201	27	23974	505	2									
LCE2D	0	.	GRCh38	chr1	152664222	152664222	+	Silent	SNP	A	A	T																															ccaccacagtgcccagctccAtgttcccctgcagtctcttc																								novel		C3N-01405_TP	C3N-01405_NB	A	A																c.117A>T	p.=	p.P39P	ENST00000368784	2/2	453	427	26	237	237	0	varscan-mutect	LCE2D,synonymous_variant,p.=,ENST00000368784,NM_178430.3;	T	ENST00000368784	Transcript	synonymous_variant	172/609	117/333	39/110	P	ccA/ccT		1		1	LCE2D	HGNC	HGNC:16518	protein_coding	YES	CCDS1018.1	ENSP00000357773	Q5TA82		UPI00001927D4	NM_178430.3			2/2		Prints_domain:PR00021,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF51,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	74	152664222	152664222	A	T	1	0	0	0	0	0	0	0	1	8573	204	8	4		4	LCE2D	1	152664222	Silent	SNP	A	C3N-01405_TP	1	152664222	96292200	28	23975	505	2									
SPRR3	0	.	GRCh38	chr1	153003489	153003489	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagccatgtccttcaacgGtcactccaggcccagctcag	9	7	9	16	1	3	1	3	0	0	1	5	1	5	1	4	2	3	1	4	2	1	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.469G>C	p.Val157Leu	p.V157L	ENST00000331860	3/3	238	218	20	124	124	0	strelka-varscan-mutect	SPRR3,missense_variant,p.Val157Leu,ENST00000331860,NM_005416.2;SPRR3,missense_variant,p.Val157Leu,ENST00000295367,NM_001097589.1;SPRR3,missense_variant,p.Val157Leu,ENST00000443178,;SPRR3,downstream_gene_variant,,ENST00000495845,;	C	ENST00000331860	Transcript	missense_variant	619/985	469/510	157/169	V/L	Gtc/Ctc		1		1	SPRR3	HGNC	HGNC:11268	protein_coding	YES	CCDS1033.1	ENSP00000330391	Q9UBC9		UPI0000127F1F	NM_005416.2	deleterious(0.04)		3/3		Pfam_domain:PF02389,Prints_domain:PR00021																	MODERATE	1	SNV	3			1										PASS		.	.												C	3	2	74	153003489	153003489	G	C	1	0	0	0	0	1	0	0	0	15458	1261	44	4		4	SPRR3	1	153003489	Missense_Mutation	SNP	G	C3N-01405_TP	339267	153003489	95952933	29	23976											
NUP210L	0	.	GRCh38	chr1	154001947	154001947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggcctgtagcagctcctCtgactgcggtcgaaccttga	7	9	13	12	2	1	2	0	2	1	0	3	4	2	2	3	2	4	3	3	2	2	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.4969G>C	p.Glu1657Gln	p.E1657Q	ENST00000368559	36/40	297	269	28	173	173	0	strelka-varscan-mutect	NUP210L,missense_variant,p.Glu1657Gln,ENST00000368559,NM_207308.2;NUP210L,intron_variant,,ENST00000271854,NM_001159484.1;NUP210L,intron_variant,,ENST00000368553,;	G	ENST00000368559	Transcript	missense_variant	5041/5889	4969/5667	1657/1888	E/Q	Gag/Cag		1		-1	NUP210L	HGNC	HGNC:29915	protein_coding	YES	CCDS41399.1	ENSP00000357547	Q5VU65		UPI000023724F	NM_207308.2	tolerated(0.15)		36/40		hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	74	154001947	154001947	C	G	1	0	0	0	0	1	0	0	0	10826	922	32	4		4	NUP210L	1	154001947	Missense_Mutation	SNP	C	C3N-01405_TP	998458	154001947	94954475	30	23977											
IQGAP3	0	.	GRCh38	chr1	156533011	156533011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctacgggtgttggagtcatCagcatctgcctctagtcctt	6	13	11	11	1	4	0	2	0	2	0	5	1	5	1	2	2	3	3	2	2	2	4	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.4072G>A	p.Asp1358Asn	p.D1358N	ENST00000361170	32/38	400	379	21	225	225	0	strelka-varscan-mutect	IQGAP3,missense_variant,p.Asp1358Asn,ENST00000361170,NM_178229.4;IQGAP3,downstream_gene_variant,,ENST00000498755,;IQGAP3,downstream_gene_variant,,ENST00000476565,;IQGAP3,missense_variant,p.Asp1315Asn,ENST00000491900,;	T	ENST00000361170	Transcript	missense_variant	4083/5988	4072/4896	1358/1631	D/N	Gat/Aat		1		-1	IQGAP3	HGNC	HGNC:20669	protein_coding	YES	CCDS1144.1	ENSP00000354451	Q86VI3		UPI000046FFDD	NM_178229.4	tolerated(0.07)		32/38		hmmpanther:PTHR14149:SF10,hmmpanther:PTHR14149																	MODERATE	1	SNV	1			1										PASS		rs1442287727	.												T	3	4	74	156533011	156533011	C	T	1	0	0	0	0	1	0	0	0	7722	826	29	3		3	IQGAP3	1	156533011	Missense_Mutation	SNP	C	C3N-01405_TP	2531064	156533011	92423411	31	23978											
INSRR	0	.	GRCh38	chr1	156843188	156843188	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggcccagttcccggattAtcgagatctgctcccgaggc	6	9	11	15	3	1	1	0	0	1	1	4	4	3	2	4	3	1	2	4	3	1	2	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.2942T>A	p.Ile981Lys	p.I981K	ENST00000368195	17/22	431	390	41	243	243	0	strelka-varscan-mutect	INSRR,missense_variant,p.Ile981Lys,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;	T	ENST00000368195	Transcript	missense_variant	3339/5101	2942/3894	981/1297	I/K	aTa/aAa		1		-1	INSRR	HGNC	HGNC:6093	protein_coding	YES	CCDS1160.1	ENSP00000357178	P14616		UPI000012D8BD	NM_014215.2	deleterious(0)		17/22		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF338,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000620,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	74	156843188	156843188	A	T	1	0	0	0	0	1	0	0	0	7676	449	16	4		4	INSRR	1	156843188	Missense_Mutation	SNP	A	C3N-01405_TP	310177	156843188	92113234	32	23979											
PEAR1	0	.	GRCh38	chr1	156906790	156906790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccctggctactatggccCtgcctgccagttccgctgcc	4	10	9	18	1	0	0	0	0	0	0	1	0	1	0	7	2	5	3	7	2	3	4	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.554C>A	p.Pro185His	p.P185H	ENST00000338302	7/24	652	352	300	355	355	0	strelka-varscan-mutect	PEAR1,missense_variant,p.Pro185His,ENST00000338302,;PEAR1,missense_variant,p.Pro185His,ENST00000292357,NM_001080471.1;PEAR1,downstream_gene_variant,,ENST00000455314,;PEAR1,non_coding_transcript_exon_variant,,ENST00000469390,;PEAR1,downstream_gene_variant,,ENST00000444016,;PEAR1,upstream_gene_variant,,ENST00000482505,;	A	ENST00000338302	Transcript	missense_variant	779/4970	554/3114	185/1037	P/H	cCt/cAt		1		1	PEAR1	HGNC	HGNC:33631	protein_coding	YES	CCDS30892.1	ENSP00000344465	Q5VY43		UPI000045889A		tolerated(0.09)		7/24		hmmpanther:PTHR24052,hmmpanther:PTHR24052:SF12,Gene3D:2gy5A03,SMART_domains:SM00180,PD936484																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	74	156906790	156906790	C	A	1	0	0	0	0	1	0	0	0	11801	681	24	2		2	PEAR1	1	156906790	Missense_Mutation	SNP	C	C3N-01405_TP	63602	156906790	92049632	33	23980											
SPTA1	0	.	GRCh38	chr1	158623128	158623128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcagaaatcagtttgtccTtcaggtcagtgatctcggga	10	11	12	8	1	4	2	3	1	1	1	6	4	5	3	1	2	1	2	1	2	1	2	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.5975A>G	p.Lys1992Arg	p.K1992R	ENST00000368147	43/52	810	760	50	424	424	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Lys1992Arg,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000461624,;SPTA1,upstream_gene_variant,,ENST00000484520,;	C	ENST00000368147	Transcript	missense_variant	6156/7999	5975/7260	1992/2419	K/R	aAg/aGg		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0.02)		43/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	74	158623128	158623128	T	C	1	0	0	0	0	1	0	0	0	15472	1609	56	5		5	SPTA1	1	158623128	Missense_Mutation	SNP	T	C3N-01405_TP	1716338	158623128	90333294	34	23981											
SPTA1	0	.	GRCh38	chr1	158656642	158656642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaatagaaaggcctcatgCttctttagaagagcctgcat	12	12	8	9	0	3	3	1	0	2	3	3	3	3	3	2	1	3	2	2	1	5	5	rs759064678		C3N-01405_TP	C3N-01405_NB	C	C																c.2820G>T	p.Lys940Asn	p.K940N	ENST00000368147	20/52	490	272	218	345	345	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Lys940Asn,ENST00000368147,NM_003126.2;	A	ENST00000368147	Transcript	missense_variant	3001/7999	2820/7260	940/2419	K/N	aaG/aaT	rs759064678,COSM1335232,COSM897820	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0)		20/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs759064678	.												A	3	1	74	158656642	158656642	C	A	1	0	0	0	0	1	0	0	0	15472	796	28	2		2	SPTA1	1	158656642	Missense_Mutation	SNP	C	C3N-01405_TP	33514	158656642	90299780	35	23982											
SPTA1	0	.	GRCh38	chr1	158662792	158662792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcagctgcagatggagaaGgtctaagagcttcttctttc	11	12	10	8	0	4	3	1	0	3	3	5	4	4	3	0	2	3	3	0	2	3	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.2374C>A	p.Leu792Ile	p.L792I	ENST00000368147	17/52	570	307	263	390	390	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Leu792Ile,ENST00000368147,NM_003126.2;	T	ENST00000368147	Transcript	missense_variant	2555/7999	2374/7260	792/2419	L/I	Ctt/Att		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	tolerated(0.46)		17/52		Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Gene3D:1.20.58.60,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	158662792	158662792	G	T	1	0	0	0	0	1	0	0	0	15472	1000	35	2		2	SPTA1	1	158662792	Missense_Mutation	SNP	G	C3N-01405_TP	6150	158662792	90293630	36	23983											
IGSF8	0	.	GRCh38	chr1	160094100	160094100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcatgcaccgtcatgcgtgGgggtgaggttggggcctggc	4	9	18	10	2	2	1	2	1	0	0	2	1	2	1	2	6	2	2	2	6	0	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.514C>A	p.Pro172Thr	p.P172T	ENST00000368086	3/7	410	334	76	190	190	0	strelka-varscan-mutect	IGSF8,missense_variant,p.Pro172Thr,ENST00000368086,NM_001320247.1;IGSF8,missense_variant,p.Pro172Thr,ENST00000314485,NM_052868.4;IGSF8,missense_variant,p.Pro172Thr,ENST00000614243,NM_001206665.2;IGSF8,missense_variant,p.Pro172Thr,ENST00000448417,;KCNJ9,downstream_gene_variant,,ENST00000368088,NM_004983.2;IGSF8,non_coding_transcript_exon_variant,,ENST00000460351,;	T	ENST00000368086	Transcript	missense_variant	731/2366	514/1842	172/613	P/T	Cca/Aca		1		-1	IGSF8	HGNC	HGNC:17813	protein_coding	YES	CCDS1195.1	ENSP00000357065	Q969P0		UPI0000073CBA	NM_001320247.1	tolerated(1)		3/7		hmmpanther:PTHR12207:SF22,hmmpanther:PTHR12207,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	160094100	160094100	G	T	1	0	0	0	0	1	0	0	0	7512	1232	43	2		2	IGSF8	1	160094100	Missense_Mutation	SNP	G	C3N-01405_TP	1431308	160094100	88862322	37	23984											
SUCO	0	.	GRCh38	chr1	172532759	172532759	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcaaactacaactccCaaaggcccttgcgcggactc	12	5	10	14	2	0	0	0	0	0	0	2	2	1	2	2	4	4	1	2	4	5	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.287C>G	p.Pro96Arg	p.P96R	ENST00000367723	1/23	186	168	18	97	97	0	strelka-varscan-mutect	SUCO,missense_variant,p.Pro96Arg,ENST00000367723,NM_016227.3;SUCO,missense_variant,p.Pro96Arg,ENST00000608151,;SUCO,upstream_gene_variant,,ENST00000263688,NM_014283.4;SUCO,upstream_gene_variant,,ENST00000616058,NM_001282751.1;SUCO,upstream_gene_variant,,ENST00000610051,NM_001282750.1;SUCO,upstream_gene_variant,,ENST00000608566,;	G	ENST00000367723	Transcript	missense_variant	411/5916	287/4218	96/1405	P/R	cCa/cGa		1		1	SUCO	HGNC	HGNC:1240	protein_coding	YES	CCDS65726.1	ENSP00000356696	Q9UBS9	A0A024R929	UPI0000EE3C11	NM_016227.3	tolerated_low_confidence(0.4)		1/23																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	172532759	172532759	C	G	1	0	0	0	0	1	0	0	0	15751	594	21	4		4	SUCO	1	172532759	Missense_Mutation	SNP	C	C3N-01405_TP	12438659	172532759	76423663	38	23985											
TNN	0	.	GRCh38	chr1	175135867	175135867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttccagaggcggaacactgGgcagctggatttcttcaagc	9	9	12	11	1	2	1	1	0	1	1	3	3	3	3	1	4	3	2	1	4	2	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.3353G>T	p.Gly1118Val	p.G1118V	ENST00000239462	16/19	230	200	30	223	223	0	strelka-varscan-mutect	TNN,missense_variant,p.Gly1118Val,ENST00000239462,NM_022093.1;TNN,missense_variant,p.Gly941Val,ENST00000621086,;TNN,missense_variant,p.Gly941Val,ENST00000622870,;	T	ENST00000239462	Transcript	missense_variant	3466/5008	3353/3900	1118/1299	G/V	gGg/gTg		1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1	deleterious(0)		16/19		PROSITE_profiles:PS51406,hmmpanther:PTHR19143:SF252,hmmpanther:PTHR19143,Pfam_domain:PF00147,Gene3D:3.90.215.10,SMART_domains:SM00186,Superfamily_domains:SSF56496																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	74	175135867	175135867	G	T	1	0	0	0	0	1	0	0	0	16796	1232	43	2		2	TNN	1	175135867	Missense_Mutation	SNP	G	C3N-01405_TP	2603108	175135867	73820555	39	23986											
TNR	0	.	GRCh38	chr1	175324376	175324376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgtgcctggactcccCgtacttcccattgaggttgg	5	12	11	13	1	0	2	0	2	0	0	2	3	2	3	4	3	2	2	4	3	1	4	rs565736776		C3N-01405_TP	C3N-01405_NB	C	C																c.3937G>T	p.Gly1313Trp	p.G1313W	ENST00000367674	22/23	191	171	20	152	152	0	strelka-varscan-mutect	TNR,missense_variant,p.Gly1313Trp,ENST00000367674,;TNR,missense_variant,p.Gly1313Trp,ENST00000263525,NM_003285.2;RP3-518E13.2,intron_variant,,ENST00000569593,;	A	ENST00000367674	Transcript	missense_variant	4646/12949	3937/4077	1313/1358	G/W	Ggg/Tgg	rs565736776	1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C		deleterious(0)		22/23		Gene3D:4.10.530.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF254,SMART_domains:SM00186,Superfamily_domains:SSF56496																	MODERATE		SNV	5			1										PASS		rs565736776	.												A	3	1	74	175324376	175324376	C	A	1	0	0	0	0	1	0	0	0	16811	652	23	1		1	TNR	1	175324376	Missense_Mutation	SNP	C	C3N-01405_TP	188509	175324376	73632046	40	23987											
PAPPA2	0	.	GRCh38	chr1	176765817	176765817	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcaggccagcagtgggCagtacatcaggcccatgcag	9	6	12	14	0	2	0	2	0	0	0	2	0	2	0	3	3	3	4	3	3	1	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.4303C>A	p.Gln1435Lys	p.Q1435K	ENST00000367662	15/23	144	108	36	131	131	0	strelka-varscan-mutect	PAPPA2,missense_variant,p.Gln1435Lys,ENST00000367662,NM_020318.2;	A	ENST00000367662	Transcript	missense_variant	5467/9691	4303/5376	1435/1791	Q/K	Cag/Aag		1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2	tolerated(1)		15/23		hmmpanther:PTHR19325:SF1,hmmpanther:PTHR19325,SMART_domains:SM00032																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	176765817	176765817	C	A	1	0	0	0	0	1	0	0	0	11513	711	25	2		2	PAPPA2	1	176765817	Missense_Mutation	SNP	C	C3N-01405_TP	1441441	176765817	72190605	41	23988											
ASTN1	0	.	GRCh38	chr1	176894748	176894748	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcttggtgccggagtcTgacaagctggtgatgtattc	7	13	14	7	1	1	2	0	2	1	0	2	3	1	3	1	3	3	3	1	3	2	3	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.2754A>T	p.=	p.S918S	ENST00000361833	17/23	321	289	32	271	271	0	strelka-varscan-mutect	ASTN1,synonymous_variant,p.=,ENST00000361833,NM_004319.2;ASTN1,synonymous_variant,p.=,ENST00000367657,NM_001286164.1;ASTN1,synonymous_variant,p.=,ENST00000424564,NM_207108.2;	A	ENST00000361833	Transcript	synonymous_variant	2768/7116	2754/3885	918/1294	S	tcA/tcT		1		-1	ASTN1	HGNC	HGNC:773	protein_coding	YES	CCDS1319.1	ENSP00000354536	O14525		UPI0000160388	NM_004319.2			17/23		hmmpanther:PTHR16592:SF8,hmmpanther:PTHR16592,SMART_domains:SM00457																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	176894748	176894748	T	A	1	0	0	0	0	0	0	0	1	1211	1567	55	4		4	ASTN1	1	176894748	Silent	SNP	T	C3N-01405_TP	128931	176894748	72061674	42	23989											
SEC16B	0	.	GRCh38	chr1	177932770	177932770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtcagtgagaggcccaGgccagcctggtggggagaag	9	5	19	8	0	1	2	1	1	0	2	1	4	1	2	3	6	1	0	3	6	1	0	rs762261014		C3N-01405_TP	C3N-01405_NB	G	G																c.2860C>A	p.Leu954Met	p.L954M	ENST00000308284	23/26	189	164	25	153	152	1	strelka-varscan-mutect	SEC16B,missense_variant,p.Leu954Met,ENST00000308284,NM_033127.2;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000354921,;SEC16B,non_coding_transcript_exon_variant,,ENST00000495165,;SEC16B,intron_variant,,ENST00000327037,;SEC16B,upstream_gene_variant,,ENST00000441371,;SEC16B,3_prime_UTR_variant,,ENST00000528461,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000466953,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000464428,;	T	ENST00000308284	Transcript	missense_variant	2950/3985	2860/3183	954/1060	L/M	Ctg/Atg	rs762261014	1		-1	SEC16B	HGNC	HGNC:30301	protein_coding	YES	CCDS44281.1	ENSP00000308339	Q96JE7		UPI0000203C4D	NM_033127.2	tolerated(0.2)		23/26		Low_complexity_(Seg):seg,hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF11																	MODERATE	1	SNV	1			1										PASS		rs762261014	.												T	3	4	74	177932770	177932770	G	T	1	0	0	0	0	1	0	0	0	14264	991	35	2		2	SEC16B	1	177932770	Missense_Mutation	SNP	G	C3N-01405_TP	1038022	177932770	71023652	43	23990											
TDRD5	0	.	GRCh38	chr1	179662104	179662104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgtcttctgttacattttagGatgagatccccactggaatg	9	15	9	8	0	2	1	0	1	2	1	3	4	3	3	2	2	1	1	2	2	3	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.2323G>C	p.Asp775His	p.D775H	ENST00000444136	15/18	52	42	10	60	60	0	strelka-varscan-mutect	TDRD5,missense_variant,p.Asp775His,ENST00000444136,NM_001199085.1,NM_001199089.1;TDRD5,missense_variant,p.Asp721His,ENST00000367614,NM_001199091.1;TDRD5,missense_variant,p.Asp721His,ENST00000294848,NM_173533.3;TDRD5,missense_variant,p.Asp231His,ENST00000417329,;	C	ENST00000444136	Transcript	missense_variant,splice_region_variant	2841/3946	2323/3108	775/1035	D/H	Gat/Cat		1		1	TDRD5	HGNC	HGNC:20614	protein_coding	YES	CCDS55663.1	ENSP00000406052	Q8NAT2		UPI000022AC96	NM_001199085.1,NM_001199089.1	deleterious(0.01)		15/18		hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF19																	MODERATE	1	SNV	1			1										PASS		rs1295276272	.												C	3	2	74	179662104	179662104	G	C	1	0	0	0	0	1	0	0	0	16143	1188	41	4		4	TDRD5	1	179662104	Missense_Mutation	SNP	G	C3N-01405_TP	1729334	179662104	69294318	44	23991											
COLGALT2	0	.	GRCh38	chr1	183964059	183964059	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaaagccaacaatcagaaAacatactgctgagtgacaag	19	5	8	9	0	1	3	1	2	0	1	1	4	1	3	1	0	5	1	1	0	7	1	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.5T>A	p.Phe2Tyr	p.F2Y	ENST00000367520	1/7	63	48	15	44	44	0	strelka-varscan-mutect	COLGALT2,missense_variant,p.Phe2Tyr,ENST00000367520,;COLGALT2,intron_variant,,ENST00000361927,NM_001303420.1,NM_015101.3,NM_001303421.1;	T	ENST00000367520	Transcript	missense_variant	442/2325	5/1092	2/363	F/Y	tTt/tAt		1		-1	COLGALT2	HGNC	HGNC:16790	protein_coding			ENSP00000356490		Q5SXQ3	UPI00004701F5				1/7																			MODERATE		SNV	2			1										PASS		.	.												T	3	4	74	183964059	183964059	A	T	1	0	0	0	0	1	0	0	0	3504	14	1	4		4	COLGALT2	1	183964059	Missense_Mutation	SNP	A	C3N-01405_TP	4301955	183964059	64992363	45	23992											
PRG4	0	.	GRCh38	chr1	186307101	186307101	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactcccaaggagcctacacCcaccactcccaaggagcctg	11	4	7	19	0	0	0	0	0	0	0	2	2	2	2	6	2	3	0	6	2	3	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1382C>A	p.Pro461His	p.P461H	ENST00000445192	7/13	493	374	119	416	415	1	strelka-varscan-mutect	PRG4,missense_variant,p.Pro461His,ENST00000445192,NM_005807.4;PRG4,missense_variant,p.Pro420His,ENST00000367483,NM_001127708.2;PRG4,missense_variant,p.Pro418His,ENST00000635041,NM_001303232.1;PRG4,missense_variant,p.Pro368His,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,missense_variant,p.Pro327His,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	A	ENST00000445192	Transcript	missense_variant	1427/5044	1382/4215	461/1404	P/H	cCc/cAc		1		1	PRG4	HGNC	HGNC:9364	protein_coding	YES	CCDS1369.1	ENSP00000399679	Q92954		UPI0004620CBB	NM_005807.4	deleterious(0)		7/13		Low_complexity_(Seg):seg,hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	74	186307101	186307101	C	A	1	0	0	0	0	1	0	0	0	12615	623	22	2		2	PRG4	1	186307101	Missense_Mutation	SNP	C	C3N-01405_TP	2343042	186307101	62649321	46	23993											
BRINP3	0	.	GRCh38	chr1	190098238	190098238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaagtgctgaatcctgggatCcctgagtataggggtagtcc	10	10	13	8	0	0	2	0	2	0	0	3	3	3	3	3	3	1	3	3	3	5	3	rs539178233		C3N-01405_TP	C3N-01405_NB	C	C																c.2081G>A	p.Gly694Glu	p.G694E	ENST00000367462	8/8	173	156	17	144	144	0	strelka-varscan-mutect	BRINP3,missense_variant,p.Gly694Glu,ENST00000367462,NM_199051.1;	T	ENST00000367462	Transcript	missense_variant	2566/3142	2081/2301	694/766	G/E	gGa/gAa	rs539178233,COSM3480447	1		-1	BRINP3	HGNC	HGNC:22393	protein_coding	YES	CCDS1373.1	ENSP00000356432	Q76B58		UPI00001C1D9A	NM_199051.1	deleterious(0.03)		8/8		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs539178233	.												T	3	4	74	190098238	190098238	C	T	1	0	0	0	0	1	0	0	0	1687	855	30	3		3	BRINP3	1	190098238	Missense_Mutation	SNP	C	C3N-01405_TP	3791137	190098238	58858184	47	23994											
F13B	0	.	GRCh38	chr1	197050787	197050787	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatcaaaacatctgtattCtactgaagagccattttcat	13	14	6	8	0	4	3	2	2	2	1	4	3	4	3	1	0	3	1	1	0	5	5	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1648G>C	p.Glu550Gln	p.E550Q	ENST00000367412	10/12	191	163	28	194	194	0	strelka-varscan-mutect	F13B,missense_variant,p.Glu550Gln,ENST00000367412,NM_001994.2;F13B,non_coding_transcript_exon_variant,,ENST00000490002,;	G	ENST00000367412	Transcript	missense_variant	1692/2217	1648/1986	550/661	E/Q	Gaa/Caa		1		-1	F13B	HGNC	HGNC:3534	protein_coding	YES	CCDS1388.1	ENSP00000356382	P05160		UPI000013D8E0	NM_001994.2	tolerated(0.59)		10/12		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF314,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	197050787	197050787	C	G	1	0	0	0	0	1	0	0	0	5209	922	32	4		4	F13B	1	197050787	Missense_Mutation	SNP	C	C3N-01405_TP	6952549	197050787	51905635	48	23995											
NAV1	0	.	GRCh38	chr1	201649347	201649347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggccaggaggagcgcGccttcctcaaggtggacccc	8	4	14	15	2	1	0	1	0	0	0	2	3	2	3	6	5	1	0	6	5	2	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.679G>T	p.Ala227Ser	p.A227S	ENST00000367296	1/30	146	130	16	98	98	0	strelka-varscan-mutect	NAV1,missense_variant,p.Ala227Ser,ENST00000367296,NM_020443.4;NAV1,missense_variant,p.Ala240Ser,ENST00000367302,;	T	ENST00000367296	Transcript	missense_variant	1099/13091	679/5634	227/1877	A/S	Gcc/Tcc		1		1	NAV1	HGNC	HGNC:15989	protein_coding	YES	CCDS1414.2	ENSP00000356265	Q8NEY1		UPI00004562D4	NM_020443.4	tolerated(0.64)		1/30		hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF3																	MODERATE	1	SNV	5			1										PASS		rs1350152222	.												T	3	4	74	201649347	201649347	G	T	1	0	0	0	0	1	0	0	0	10192	1087	38	1		1	NAV1	1	201649347	Missense_Mutation	SNP	G	C3N-01405_TP	4598560	201649347	47307075	49	23996											
ATP2B4	0	.	GRCh38	chr1	203722567	203722567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgtttttaacaccttcGtgctgatgcagctcttcaat	8	16	6	11	1	2	1	1	1	1	0	3	1	2	1	2	0	4	4	2	0	2	6	rs748753019		C3N-01405_TP	C3N-01405_NB	G	G																c.2902G>T	p.Val968Leu	p.V968L	ENST00000357681	18/21	469	408	61	357	356	1	strelka-varscan-mutect	ATP2B4,missense_variant,p.Val968Leu,ENST00000357681,NM_001684.4;ATP2B4,missense_variant,p.Val968Leu,ENST00000367218,NM_001001396.2;ATP2B4,missense_variant,p.Val968Leu,ENST00000341360,;ATP2B4,upstream_gene_variant,,ENST00000356729,;ATP2B4,upstream_gene_variant,,ENST00000458092,;ATP2B4,upstream_gene_variant,,ENST00000466407,;ATP2B4,upstream_gene_variant,,ENST00000484746,;	T	ENST00000357681	Transcript	missense_variant	4025/8968	2902/3618	968/1205	V/L	Gtg/Ttg	rs748753019	1		1	ATP2B4	HGNC	HGNC:817	protein_coding	YES	CCDS1440.1	ENSP00000350310	P23634	A0A024R968	UPI000002A464	NM_001684.4	deleterious(0.01)		18/21		Transmembrane_helices:TMhelix,hmmpanther:PTHR24093:SF276,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01517,Pfam_domain:PF00689,Gene3D:1.20.1110.10,Superfamily_domains:0049473																	MODERATE	1	SNV	1			1										PASS		rs748753019	.												T	3	4	74	203722567	203722567	G	T	1	0	0	0	0	1	0	0	0	1295	1145	40	1		1	ATP2B4	1	203722567	Missense_Mutation	SNP	G	C3N-01405_TP	2073220	203722567	45233855	50	23997											
NFASC	0	.	GRCh38	chr1	204981982	204981982	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgacttcgggaagggccCtgagccagagtccgtcatcg	10	7	13	11	3	1	3	1	2	0	1	4	4	2	4	3	2	1	0	3	2	2	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.2432C>G	p.Pro811Arg	p.P811R	ENST00000339876	21/30	50	39	11	49	49	0	strelka-varscan-mutect	NFASC,missense_variant,p.Pro811Arg,ENST00000339876,NM_001005388.2;NFASC,missense_variant,p.Pro811Arg,ENST00000401399,;NFASC,missense_variant,p.Pro807Arg,ENST00000539706,NM_001160332.1;NFASC,missense_variant,p.Pro807Arg,ENST00000360049,NM_015090.3;NFASC,missense_variant,p.Pro790Arg,ENST00000404076,;NFASC,missense_variant,p.Pro807Arg,ENST00000404907,;NFASC,missense_variant,p.Pro798Arg,ENST00000430393,NM_001160331.1;NFASC,missense_variant,p.Pro781Arg,ENST00000367173,;NFASC,missense_variant,p.Pro807Arg,ENST00000513543,;NFASC,missense_variant,p.Pro43Arg,ENST00000425360,;NFASC,downstream_gene_variant,,ENST00000403080,NM_001160333.1,NM_001005389.1;NFASC,non_coding_transcript_exon_variant,,ENST00000404977,;NFASC,non_coding_transcript_exon_variant,,ENST00000471392,;NFASC,non_coding_transcript_exon_variant,,ENST00000468328,;NFASC,upstream_gene_variant,,ENST00000495396,;NFASC,3_prime_UTR_variant,,ENST00000504476,;NFASC,non_coding_transcript_exon_variant,,ENST00000512826,;	G	ENST00000339876	Transcript	missense_variant	2760/10333	2432/3723	811/1240	P/R	cCt/cGt		1		1	NFASC	HGNC	HGNC:29866	protein_coding	YES	CCDS53460.1	ENSP00000344786	O94856		UPI0000237208	NM_001005388.2	deleterious(0)		21/30		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF715,Pfam_domain:PF00041,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	74	204981982	204981982	C	G	1	0	0	0	0	1	0	0	0	10396	681	24	4		4	NFASC	1	204981982	Missense_Mutation	SNP	C	C3N-01405_TP	1259415	204981982	43974440	51	23998											
USH2A	0	.	GRCh38	chr1	215888840	215888840	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggaacatccttttgaagtGcaggcttctacctgaaactt	11	12	9	9	0	1	2	0	2	1	0	2	3	2	3	2	2	4	2	2	2	4	5	rs766915522		C3N-01405_TP	C3N-01405_NB	G	G																c.7809C>A	p.Cys2603Ter	p.C2603*	ENST00000307340	41/72	413	323	90	318	318	0	strelka-varscan	USH2A,stop_gained,p.Cys2603Ter,ENST00000307340,NM_206933.2;RP5-1111A8.3,intron_variant,,ENST00000414995,;	T	ENST00000307340	Transcript	stop_gained	8196/18883	7809/15609	2603/5202	C/*	tgC/tgA	rs766915522	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			41/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	74	215888840	215888840	G	T	1	0	0	0	0	0	1	0	0	17570	1311	46	2		2	USH2A	1	215888840	Nonsense_Mutation	SNP	G	C3N-01405_TP	10906858	215888840	33067582	52	23999											
GPATCH2	0	.	GRCh38	chr1	217514822	217514822	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacacactgagtactcacTcatggtgatgagaatccggg	13	9	10	9	1	2	3	2	3	0	1	3	4	3	3	1	2	2	1	1	2	4	2	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.1166A>G	p.Asp389Gly	p.D389G	ENST00000366935	6/10	161	128	33	118	118	0	strelka-varscan	GPATCH2,missense_variant,p.Asp389Gly,ENST00000366935,NM_018040.3;GPATCH2,splice_region_variant,,ENST00000470014,;GPATCH2,splice_region_variant,,ENST00000485274,;	C	ENST00000366935	Transcript	missense_variant,splice_region_variant	1277/5851	1166/1587	389/528	D/G	gAc/gGc		1		-1	GPATCH2	HGNC	HGNC:25499	protein_coding	YES	CCDS1518.1	ENSP00000355902	Q9NW75		UPI000004A012	NM_018040.3	deleterious(0)		6/10		hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF4																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	74	217514822	217514822	T	C	1	0	0	0	0	1	0	0	0	6491	1565	54	5		5	GPATCH2	1	217514822	Missense_Mutation	SNP	T	C3N-01405_TP	1625982	217514822	31441600	53	24000											
SPATA17	0	.	GRCh38	chr1	217774460	217774460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggactccaccagccttactGattggctagcttgtacaagc	10	10	9	12	0	0	1	0	1	0	0	1	2	1	2	3	2	5	3	3	2	4	5	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.646G>A	p.Asp216Asn	p.D216N	ENST00000366933	7/11	292	249	43	241	241	0	strelka-varscan	SPATA17,missense_variant,p.Asp216Asn,ENST00000366933,NM_138796.3;SPATA17,non_coding_transcript_exon_variant,,ENST00000492747,;SPATA17,downstream_gene_variant,,ENST00000470448,;	A	ENST00000366933	Transcript	missense_variant	701/5818	646/1086	216/361	D/N	Gat/Aat		1		1	SPATA17	HGNC	HGNC:25184	protein_coding	YES	CCDS1519.1	ENSP00000355900	Q96L03		UPI00000717C2	NM_138796.3	tolerated(0.42)		7/11		hmmpanther:PTHR22706																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	217774460	217774460	G	A	1	0	0	0	0	1	0	0	0	15332	1290	45	3		3	SPATA17	1	217774460	Missense_Mutation	SNP	G	C3N-01405_TP	259638	217774460	31181962	54	24001											
WNT9A	0	.	GRCh38	chr1	227925512	227925512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatggtcaggggctcgctgcCcgtcagcctgggcacagaga	7	6	16	12	2	2	1	2	0	0	1	3	3	2	1	2	4	2	3	2	4	0	0	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.103G>T	p.Gly35Cys	p.G35C	ENST00000272164	2/4	58	39	19	44	44	0	strelka-varscan	WNT9A,missense_variant,p.Gly35Cys,ENST00000272164,NM_003395.2;	A	ENST00000272164	Transcript	missense_variant	114/3971	103/1098	35/365	G/C	Ggc/Tgc		1		-1	WNT9A	HGNC	HGNC:12778	protein_coding	YES	CCDS31045.1	ENSP00000272164	O14904	D9ZGG3	UPI000005104B	NM_003395.2	deleterious(0)		2/4		hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	227925512	227925512	C	A	1	0	0	0	0	1	0	0	0	17954	623	22	2		2	WNT9A	1	227925512	Missense_Mutation	SNP	C	C3N-01405_TP	10151052	227925512	21030910	55	24002											
OBSCN	0	.	GRCh38	chr1	228212238	228212238	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgggcggcgcctgggtgAgcccgacggcccccgcgtgc	3	3	19	16	7	0	1	0	1	0	0	0	3	0	2	4	5	2	0	4	5	0	0	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.455A>G	p.Glu152Gly	p.E152G	ENST00000570156	2/116	333	308	25	245	245	0	strelka-varscan	OBSCN,missense_variant,p.Glu152Gly,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Glu152Gly,ENST00000366707,;OBSCN,missense_variant,p.Glu152Gly,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Glu152Gly,ENST00000636875,;OBSCN,missense_variant,p.Glu152Gly,ENST00000284548,NM_052843.3;C1orf145,intron_variant,,ENST00000295012,;OBSCN,upstream_gene_variant,,ENST00000493977,;C1orf145,intron_variant,,ENST00000337335,;C1orf145,intron_variant,,ENST00000472613,;	G	ENST00000570156	Transcript	missense_variant	529/26925	455/26772	152/8923	E/G	gAg/gGg		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	tolerated(0.08)		2/116		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF708,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	74	228212238	228212238	A	G	1	0	0	0	0	1	0	0	0	10889	304	11	5		5	OBSCN	1	228212238	Missense_Mutation	SNP	A	C3N-01405_TP	286726	228212238	20744184	56	24003											
OBSCN	0	.	GRCh38	chr1	228264358	228264358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtacagctgcaaggccgggGatcagcggctgtccttccac	8	7	13	13	2	1	0	1	0	0	0	3	1	3	1	3	4	4	4	3	4	2	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.5380G>T	p.Asp1794Tyr	p.D1794Y	ENST00000570156	18/116	122	99	23	121	121	0	strelka-varscan	OBSCN,missense_variant,p.Asp1794Tyr,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Asp1794Tyr,ENST00000366707,;OBSCN,missense_variant,p.Asp1610Tyr,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Asp1610Tyr,ENST00000636875,;OBSCN,missense_variant,p.Asp1610Tyr,ENST00000284548,NM_052843.3;	T	ENST00000570156	Transcript	missense_variant	5454/26925	5380/26772	1794/8923	D/Y	Gat/Tat		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	deleterious(0)		18/116		Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	74	228264358	228264358	G	T	1	0	0	0	0	1	0	0	0	10889	1174	41	2		2	OBSCN	1	228264358	Missense_Mutation	SNP	G	C3N-01405_TP	52120	228264358	20692064	57	24004											
DISC1	0	.	GRCh38	chr1	231694292	231694292	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcagcaggctctctgccAtcagcagagttgagtagcaa	10	7	13	11	1	2	2	1	1	1	1	3	2	2	2	1	2	4	7	1	2	2	2	rs542010946		C3N-01405_TP	C3N-01405_NB	A	A																c.534A>T	p.=	p.P178P	ENST00000366633	2/10	500	440	60	378	378	0	strelka-varscan-mutect	DISC1,synonymous_variant,p.=,ENST00000439617,NM_001164537.1,NM_018662.2;DISC1,synonymous_variant,p.=,ENST00000622252,;DISC1,synonymous_variant,p.=,ENST00000366637,NM_001012957.1;DISC1,synonymous_variant,p.=,ENST00000620189,NM_001164540.1;DISC1,synonymous_variant,p.=,ENST00000602281,NM_001164542.1,NM_001164544.1;DISC1,synonymous_variant,p.=,ENST00000366633,NM_001164539.1;DISC1,synonymous_variant,p.=,ENST00000539444,NM_001164545.1,NM_001164548.1;DISC1,synonymous_variant,p.=,ENST00000317586,NM_001012958.1;DISC1,synonymous_variant,p.=,ENST00000535983,NM_001164541.1,NM_001164538.1;DISC1,synonymous_variant,p.=,ENST00000628350,NM_001164546.1,NM_001164549.1,NM_001164547.1;DISC1,synonymous_variant,p.=,ENST00000537876,;DISC1,synonymous_variant,p.=,ENST00000366636,NM_001012959.1;DISC1,intron_variant,,ENST00000602873,NM_001164556.1;DISC1,downstream_gene_variant,,ENST00000602600,;DISC1,synonymous_variant,p.=,ENST00000535944,;DISC1,synonymous_variant,p.=,ENST00000295051,;DISC1,synonymous_variant,p.=,ENST00000602822,;DISC1,synonymous_variant,p.=,ENST00000602713,;DISC1,synonymous_variant,p.=,ENST00000602700,;DISC1,synonymous_variant,p.=,ENST00000366632,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602567,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;DISC1,3_prime_UTR_variant,,ENST00000422590,;DISC1,non_coding_transcript_exon_variant,,ENST00000468399,;	T	ENST00000366633	Transcript	synonymous_variant	587/2676	534/2268	178/755	P	ccA/ccT	rs542010946	1		1	DISC1	HGNC	HGNC:2888	protein_coding	YES	CCDS53482.1	ENSP00000355593	Q9NRI5		UPI0001A61692	NM_001164539.1			2/10		hmmpanther:PTHR14332,hmmpanther:PTHR14332:SF4																	LOW	1	SNV	1			1										PASS		rs542010946	.												T	2	4	74	231694292	231694292	A	T	1	0	0	0	0	0	0	0	1	4344	204	8	4		4	DISC1	1	231694292	Silent	SNP	A	C3N-01405_TP	3429934	231694292	17262130	58	24005											
DISC1	0	.	GRCh38	chr1	231694369	231694369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccctcctggctctcacaGtgcctttacctcaagcttta	8	12	5	16	0	2	0	2	0	1	0	4	0	3	0	5	1	4	2	5	1	4	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.611G>A	p.Ser204Asn	p.S204N	ENST00000366633	2/10	576	500	76	521	521	0	strelka-varscan-mutect	DISC1,missense_variant,p.Ser204Asn,ENST00000439617,NM_001164537.1,NM_018662.2;DISC1,missense_variant,p.Ser204Asn,ENST00000622252,;DISC1,missense_variant,p.Ser204Asn,ENST00000366637,NM_001012957.1;DISC1,missense_variant,p.Ser204Asn,ENST00000620189,NM_001164540.1;DISC1,missense_variant,p.Ser204Asn,ENST00000602281,NM_001164542.1,NM_001164544.1;DISC1,missense_variant,p.Ser204Asn,ENST00000366633,NM_001164539.1;DISC1,missense_variant,p.Ser204Asn,ENST00000539444,NM_001164545.1,NM_001164548.1;DISC1,missense_variant,p.Ser204Asn,ENST00000317586,NM_001012958.1;DISC1,missense_variant,p.Ser204Asn,ENST00000535983,NM_001164541.1,NM_001164538.1;DISC1,missense_variant,p.Ser204Asn,ENST00000628350,NM_001164546.1,NM_001164549.1,NM_001164547.1;DISC1,missense_variant,p.Ser204Asn,ENST00000537876,;DISC1,missense_variant,p.Ser204Asn,ENST00000366636,NM_001012959.1;DISC1,intron_variant,,ENST00000602873,NM_001164556.1;DISC1,downstream_gene_variant,,ENST00000602600,;DISC1,missense_variant,p.Ser204Asn,ENST00000535944,;DISC1,missense_variant,p.Ser204Asn,ENST00000295051,;DISC1,missense_variant,p.Ser204Asn,ENST00000602822,;DISC1,missense_variant,p.Ser204Asn,ENST00000602713,;DISC1,missense_variant,p.Ser204Asn,ENST00000602700,;DISC1,missense_variant,p.Ser204Asn,ENST00000366632,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602567,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;DISC1,3_prime_UTR_variant,,ENST00000422590,;DISC1,non_coding_transcript_exon_variant,,ENST00000468399,;	A	ENST00000366633	Transcript	missense_variant	664/2676	611/2268	204/755	S/N	aGt/aAt		1		1	DISC1	HGNC	HGNC:2888	protein_coding	YES	CCDS53482.1	ENSP00000355593	Q9NRI5		UPI0001A61692	NM_001164539.1	deleterious(0.02)		2/10		hmmpanther:PTHR14332,hmmpanther:PTHR14332:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	231694369	231694369	G	A	1	0	0	0	0	1	0	0	0	4344	1029	36	3		3	DISC1	1	231694369	Missense_Mutation	SNP	G	C3N-01405_TP	77	231694369	17262053	59	24006											
NID1	0	.	GRCh38	chr1	236048947	236048947	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccgggatgggattcttTggccgggggttcactcgtag	5	10	17	9	3	2	0	1	0	1	0	3	3	2	2	2	5	1	2	2	5	1	4	rs146770492		C3N-01405_TP	C3N-01405_NB	T	T																c.268A>T	p.Lys90Ter	p.K90*	ENST00000264187	2/20	332	268	64	275	275	0	strelka-varscan-mutect	NID1,stop_gained,p.Lys90Ter,ENST00000264187,NM_002508.2;NID1,stop_gained,p.Lys90Ter,ENST00000366595,;	A	ENST00000264187	Transcript	stop_gained	351/5864	268/3744	90/1247	K/*	Aaa/Taa	rs146770492	1		-1	NID1	HGNC	HGNC:7821	protein_coding	YES	CCDS1608.1	ENSP00000264187	P14543		UPI000013D4D9	NM_002508.2			2/20																			HIGH	1	SNV	1			1										PASS		rs146770492	.												A	4	1	74	236048947	236048947	T	A	1	0	0	0	0	0	1	0	0	10447	1821	63	4		4	NID1	1	236048947	Nonsense_Mutation	SNP	T	C3N-01405_TP	4354578	236048947	12907475	60	24007											
ACTN2	0	.	GRCh38	chr1	236761144	236761144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgccgagcaggtcatcGcctccttccggatcctggct	6	9	10	16	3	1	0	1	0	0	0	5	2	4	1	5	3	2	2	5	3	0	1	rs200854335		C3N-01405_TP	C3N-01405_NB	G	G																c.2497G>A	p.Ala833Thr	p.A833T	ENST00000542672	20/21	469	441	28	363	363	0	strelka-varscan-mutect	ACTN2,missense_variant,p.Ala625Thr,ENST00000546208,NM_001278344.1;ACTN2,missense_variant,p.Ala833Thr,ENST00000542672,NM_001278343.1;ACTN2,missense_variant,p.Ala833Thr,ENST00000366578,NM_001103.3;ACTN2,non_coding_transcript_exon_variant,,ENST00000461367,;	A	ENST00000542672	Transcript	missense_variant	2717/4906	2497/2685	833/894	A/T	Gcc/Acc	rs200854335,COSM1340383,COSM5154476,COSM5269719,COSM533501	1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1	tolerated(0.11)		20/21		Gene3D:1.10.238.10,Pfam_domain:PF08726,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,SMART_domains:SM01184,Superfamily_domains:SSF47473										uncertain_significance	0,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1	1										PASS		rs200854335	.												A	3	1	74	236761144	236761144	G	A	1	0	0	0	0	1	0	0	0	249	1087	38	1		1	ACTN2	1	236761144	Missense_Mutation	SNP	G	C3N-01405_TP	712197	236761144	12195278	61	24008											
GREM2	0	.	GRCh38	chr1	240493440	240493440	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccttcaccagcaccgcCaccaggaacaaggacaggga	13	2	10	16	1	1	0	1	0	0	0	1	3	1	3	6	3	2	1	6	3	2	1			C3N-01405_TP	C3N-01405_NB	C	C																c.36G>T	p.=	p.V12V	ENST00000318160	2/2	54	37	17	43	43	0	strelka-varscan-mutect	GREM2,synonymous_variant,p.=,ENST00000318160,NM_022469.3;	A	ENST00000318160	Transcript	synonymous_variant	303/4170	36/507	12/168	V	gtG/gtT	COSM3804551	1		-1	GREM2	HGNC	HGNC:17655	protein_coding	YES	CCDS31070.1	ENSP00000318650	Q9H772	A0A024R3Y1	UPI000006F961	NM_022469.3			2/2		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15283:SF2,hmmpanther:PTHR15283,PIRSF_domain:PIRSF037254											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	74	240493440	240493440	C	A	1	0	0	0	0	0	0	0	1	6642	581	21	2		2	GREM2	1	240493440	Silent	SNP	C	C3N-01405_TP	3732296	240493440	8462982	62	24009											
OR14I1	0	.	GRCh38	chr1	248681583	248681583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcatgatgacaatgagctggGgggagcaggtggagaaggct	11	6	19	5	0	0	4	0	3	0	1	0	6	0	5	0	6	2	4	0	6	2	0	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.722C>A	p.Pro241His	p.P241H	ENST00000342623	1/1	125	111	14	134	134	0	strelka-varscan-mutect	OR14I1,missense_variant,p.Pro241His,ENST00000342623,NM_001004734.1;	T	ENST00000342623	Transcript	missense_variant	722/936	722/936	241/311	P/H	cCc/cAc		1		-1	OR14I1	HGNC	HGNC:19575	protein_coding	YES	CCDS31125.1	ENSP00000339726	A6ND48		UPI0000199BC9	NM_001004734.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF316,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1272040059	.												T	3	4	74	248681583	248681583	G	T	1	0	0	0	0	1	0	0	0	11024	1232	43	2		2	OR14I1	1	248681583	Missense_Mutation	SNP	G	C3N-01405_TP	8188143	248681583	274839	63	24010											
TPO	0	.	GRCh38	chr2	1456174	1456174	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atggcatggggacaatacatCgaccacgacatcgcgttcac	12	7	10	12	4	1	0	1	0	0	0	3	3	1	1	1	3	1	2	1	3	2	2	rs756113203		C3N-01405_TP	C3N-01405_NB	C	C																c.711C>G	p.Ile237Met	p.I237M	ENST00000345913	7/17	554	449	105	416	416	0	strelka-varscan-mutect	TPO,missense_variant,p.Ile166Met,ENST00000422464,;TPO,missense_variant,p.Ile237Met,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Ile237Met,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Ile237Met,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,missense_variant,p.Ile237Met,ENST00000346956,NM_175721.3;TPO,missense_variant,p.Ile237Met,ENST00000382198,NM_175722.3;TPO,downstream_gene_variant,,ENST00000423320,;TPO,intron_variant,,ENST00000497517,;	G	ENST00000345913	Transcript	missense_variant	802/3145	711/2802	237/933	I/M	atC/atG	rs756113203	1		1	TPO	HGNC	HGNC:12015	protein_coding	YES	CCDS1643.1	ENSP00000318820	P07202		UPI000013D480	NM_000547.5	deleterious(0.03)		7/17		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF60,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457																	MODERATE	1	SNV	1			1										PASS		rs756113203	.												G	3	3	74	1456174	1456174	C	G	1	0	0	0	0	1	0	0	0	16891	874	31	4		4	TPO	2	1456174	Missense_Mutation	SNP	C	C3N-01405_TP		1456174	240737355	64	24011											
TPO	0	.	GRCh38	chr2	1484686	1484686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaggctatgactccaccGccaaccccactgtgtccaac	11	7	7	16	1	0	2	0	2	0	0	2	2	2	2	6	1	2	1	6	1	4	1	rs761068957		C3N-01405_TP	C3N-01405_NB	G	G																c.1429G>A	p.Ala477Thr	p.A477T	ENST00000345913	9/17	502	410	92	437	437	0	strelka-varscan-mutect	TPO,missense_variant,p.Ala406Thr,ENST00000422464,;TPO,missense_variant,p.Ala477Thr,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Ala477Thr,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Ala477Thr,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,missense_variant,p.Ala477Thr,ENST00000346956,NM_175721.3;TPO,missense_variant,p.Ala304Thr,ENST00000382198,NM_175722.3;TPO,missense_variant,p.Ala9Thr,ENST00000446278,;TPO,missense_variant,p.Ala8Thr,ENST00000469607,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;TPO,non_coding_transcript_exon_variant,,ENST00000462973,;	A	ENST00000345913	Transcript	missense_variant	1520/3145	1429/2802	477/933	A/T	Gcc/Acc	rs761068957,COSM4987513,COSM4987514	1		1	TPO	HGNC	HGNC:12015	protein_coding	YES	CCDS1643.1	ENSP00000318820	P07202		UPI000013D480	NM_000547.5	tolerated(0.08)		9/17		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF60,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs761068957	.												A	3	1	74	1484686	1484686	G	A	1	0	0	0	0	1	0	0	0	16891	1087	38	1		1	TPO	2	1484686	Missense_Mutation	SNP	G	C3N-01405_TP	28512	1484686	240708843	65	24012											
APOB	0	.	GRCh38	chr2	21007671	21007671	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tattcaggaagtctatcttcCctgttaaccttaatggaaaa	13	14	6	8	0	3	0	1	0	2	0	4	2	4	2	2	2	1	1	2	2	7	6	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.9197G>T	p.Gly3066Val	p.G3066V	ENST00000233242	26/29	287	220	67	219	218	1	strelka-varscan-mutect	APOB,missense_variant,p.Gly3066Val,ENST00000233242,NM_000384.2;	A	ENST00000233242	Transcript	missense_variant	9325/14121	9197/13692	3066/4563	G/V	gGg/gTg		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	deleterious(0)		26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	21007671	21007671	C	A	1	0	0	0	0	1	0	0	0	907	623	22	2		2	APOB	2	21007671	Missense_Mutation	SNP	C	C3N-01405_TP	19522985	21007671	221185858	66	24013											
ADCY3	0	.	GRCh38	chr2	24834850	24834850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagctggttgagctcgtgCtcatcttcagaggcatccac	8	10	11	12	1	3	2	2	1	1	1	5	2	4	2	1	2	4	6	1	2	0	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1749G>T	p.Glu583Asp	p.E583D	ENST00000260600	9/21	223	189	34	156	156	0	strelka-varscan-mutect	ADCY3,missense_variant,p.Glu583Asp,ENST00000260600,NM_004036.3;ADCY3,missense_variant,p.Glu583Asp,ENST00000405392,NM_001320613.1;ADCY3,missense_variant,p.Glu276Asp,ENST00000606682,;ADCY3,downstream_gene_variant,,ENST00000435135,;ADCY3,downstream_gene_variant,,ENST00000427849,;ADCY3,upstream_gene_variant,,ENST00000455323,;ADCY3,upstream_gene_variant,,ENST00000450524,;ADCY3,downstream_gene_variant,,ENST00000454027,;	A	ENST00000260600	Transcript	missense_variant	2601/5050	1749/3435	583/1144	E/D	gaG/gaT		1		-1	ADCY3	HGNC	HGNC:234	protein_coding	YES	CCDS1715.1	ENSP00000260600	O60266		UPI000013D0ED	NM_004036.3	tolerated(0.1)		9/21		Low_complexity_(Seg):seg,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF291,PIRSF_domain:PIRSF039050																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	24834850	24834850	C	A	1	0	0	0	0	1	0	0	0	339	796	28	2		2	ADCY3	2	24834850	Missense_Mutation	SNP	C	C3N-01405_TP	3827179	24834850	217358679	67	24014											
C2orf71	0	.	GRCh38	chr2	29070654	29070654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaaggtgggaggctgcGgtcggccacctggctggcgg	4	6	20	11	3	0	0	0	0	0	0	2	1	1	1	3	9	1	2	3	9	1	0	rs757774860		C3N-01405_TP	C3N-01405_NB	G	G																c.3608C>A	p.Pro1203Gln	p.P1203Q	ENST00000331664	1/2	457	343	114	298	298	0	strelka-varscan	C2orf71,missense_variant,p.Pro1203Gln,ENST00000331664,NM_001029883.2;	T	ENST00000331664	Transcript	missense_variant	3608/7044	3608/3867	1203/1288	P/Q	cCg/cAg	rs757774860,COSM3380137	1		-1	C2orf71	HGNC	HGNC:34383	protein_coding	YES	CCDS42669.1	ENSP00000332809	A6NGG8		UPI0000251DD8	NM_001029883.2	tolerated(0.26)		1/2		Pfam_domain:PF15449,hmmpanther:PTHR22017											0,1						MODERATE	1	SNV	2		0,1	1										PASS		.	.												T	3	4	74	29070654	29070654	G	T	1	0	0	0	0	1	0	0	0	2045	1116	39	1		1	C2orf71	2	29070654	Missense_Mutation	SNP	G	C3N-01405_TP	4235804	29070654	213122875	68	24015											
ALK	0	.	GRCh38	chr2	29193742	29193742	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttgcagccttgccagAggaggtggtaggcagaggtg	7	11	16	7	0	1	2	0	0	1	2	1	3	1	3	2	5	3	3	2	5	1	4	rs763814257		C3N-01405_TP	C3N-01405_NB	A	A																c.4345T>A	p.Ser1449Thr	p.S1449T	ENST00000389048	29/29	83	64	19	55	55	0	strelka-varscan	ALK,missense_variant,p.Ser1449Thr,ENST00000389048,NM_004304.4;ALK,missense_variant,p.Ser1072Thr,ENST00000618119,;ALK,missense_variant,p.Ser409Thr,ENST00000431873,;CLIP4,downstream_gene_variant,,ENST00000401617,;	T	ENST00000389048	Transcript	missense_variant	5252/6220	4345/4863	1449/1620	S/T	Tct/Act	rs763814257	1		-1	ALK	HGNC	HGNC:427	protein_coding	YES	CCDS33172.1	ENSP00000373700	Q9UM73		UPI00001684DA	NM_004304.4	tolerated(0.39)		29/29		Low_complexity_(Seg):seg,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF276																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	29193742	29193742	A	T	1	0	0	0	0	1	0	0	0	625	304	11	4		4	ALK	2	29193742	Missense_Mutation	SNP	A	C3N-01405_TP	123088	29193742	212999787	69	24016											
EHD3	0	.	GRCh38	chr2	31260663	31260663	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagatgcgagtggtgctgaAcaaagctgaccagatcgaga	14	6	13	8	2	0	5	0	2	0	3	1	7	0	5	1	1	4	2	1	1	3	0	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.656A>T	p.Asn219Ile	p.N219I	ENST00000322054	4/6	180	150	30	111	111	0	strelka-varscan	EHD3,missense_variant,p.Asn219Ile,ENST00000322054,NM_014600.2;	T	ENST00000322054	Transcript	missense_variant	941/4636	656/1608	219/535	N/I	aAc/aTc		1		1	EHD3	HGNC	HGNC:3244	protein_coding	YES	CCDS1774.1	ENSP00000327116	Q9NZN3		UPI0000140D07	NM_014600.2	deleterious(0)		4/6		Gene3D:3.40.50.300,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00350,PROSITE_profiles:PS51718,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF67,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	31260663	31260663	A	T	1	0	0	0	0	1	0	0	0	4815	43	2	4		4	EHD3	2	31260663	Missense_Mutation	SNP	A	C3N-01405_TP	2066921	31260663	210932866	70	24017											
SRD5A2	0	.	GRCh38	chr2	31531441	31531441	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatagtcactatgaatgttTattcccattcccaaaataaa	16	14	3	8	0	1	1	1	1	0	0	3	1	3	1	2	0	0	1	2	0	9	8	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.477A>T	p.=	p.I159I	ENST00000622030	3/5	261	207	54	218	218	0	strelka-varscan	SRD5A2,synonymous_variant,p.=,ENST00000622030,NM_000348.3;AL133247.2,intron_variant,,ENST00000435713,;	A	ENST00000622030	Transcript	synonymous_variant	644/4648	477/765	159/254	I	atA/atT		1		-1	SRD5A2	HGNC	HGNC:11285	protein_coding	YES	CCDS74503.1	ENSP00000477587	P31213		UPI000017954A	NM_000348.3			3/5		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50244,hmmpanther:PTHR10556,PIRSF_domain:PIRSF015596,Pfam_domain:PF02544																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	31531441	31531441	T	A	1	0	0	0	0	0	0	0	1	15496	1744	61	4		4	SRD5A2	2	31531441	Silent	SNP	T	C3N-01405_TP	270778	31531441	210662088	71	24018											
VIT	0	.	GRCh38	chr2	36775044	36775044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgccttccagaaacCtgttggagcggatgtcagcc	9	8	13	11	1	1	1	1	0	0	1	2	4	2	4	4	3	5	2	4	3	1	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.779C>A	p.Pro260His	p.P260H	ENST00000379242	9/16	224	171	53	135	135	0	strelka-varscan	VIT,missense_variant,p.Pro260His,ENST00000379242,NM_053276.3;VIT,missense_variant,p.Pro260His,ENST00000389975,NM_001177969.1;VIT,missense_variant,p.Pro260His,ENST00000401530,NM_001177970.1;VIT,missense_variant,p.Pro27His,ENST00000464309,;VIT,5_prime_UTR_variant,,ENST00000497382,;VIT,intron_variant,,ENST00000379241,NM_001177971.1;VIT,intron_variant,,ENST00000404084,;	A	ENST00000379242	Transcript	missense_variant	1081/2810	779/2082	260/693	P/H	cCt/cAt		1		1	VIT	HGNC	HGNC:12697	protein_coding	YES	CCDS33180.1	ENSP00000368544	Q6UXI7		UPI000006E0F8	NM_053276.3	deleterious(0)		9/16																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	74	36775044	36775044	C	A	1	0	0	0	0	1	0	0	0	17718	681	24	2		2	VIT	2	36775044	Missense_Mutation	SNP	C	C3N-01405_TP	5243603	36775044	205418485	72	24019											
DYNC2LI1	0	.	GRCh38	chr2	43800850	43800850	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtttaaagtttaccagtAaatcagaagctctattacta	14	16	5	6	0	2	1	1	0	1	1	2	1	2	1	1	0	3	4	1	0	9	9	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.667A>G	p.Lys223Glu	p.K223E	ENST00000605786	9/13	163	109	54	137	137	0	strelka-varscan	DYNC2LI1,missense_variant,p.Lys222Glu,ENST00000260605,NM_016008.3;DYNC2LI1,missense_variant,p.Lys223Glu,ENST00000605786,NM_001193464.1;DYNC2LI1,missense_variant,p.Lys206Glu,ENST00000378587,;DYNC2LI1,non_coding_transcript_exon_variant,,ENST00000489222,;DYNC2LI1,downstream_gene_variant,,ENST00000462426,;DYNC2LI1,downstream_gene_variant,,ENST00000479242,;DYNC2LI1,upstream_gene_variant,,ENST00000482738,;	G	ENST00000605786	Transcript	missense_variant	724/1346	667/1059	223/352	K/E	Aaa/Gaa		1		1	DYNC2LI1	HGNC	HGNC:24595	protein_coding	YES	CCDS62903.1	ENSP00000474032	Q8TCX1		UPI00000704B1	NM_001193464.1	deleterious(0.04)		9/13		Gene3D:3.40.50.300,hmmpanther:PTHR13236																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	43800850	43800850	A	G	1	0	0	0	0	1	0	0	0	4671	363	13	5		5	DYNC2LI1	2	43800850	Missense_Mutation	SNP	A	C3N-01405_TP	7025806	43800850	198392679	73	24020											
LRPPRC	0	.	GRCh38	chr2	43976146	43976146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaggttgaacattacccaGctctggcatgccctgtcaca	9	11	8	13	0	2	1	1	1	1	0	2	1	2	1	2	2	4	3	2	2	3	3	rs540075575		C3N-01405_TP	C3N-01405_NB	G	G																c.734C>A	p.Ala245Asp	p.A245D	ENST00000260665	6/38	205	155	50	179	179	0	strelka-varscan	LRPPRC,missense_variant,p.Ala245Asp,ENST00000260665,NM_133259.3;LRPPRC,missense_variant,p.Ala245Asp,ENST00000409946,;LRPPRC,missense_variant,p.Ala245Asp,ENST00000409659,;LRPPRC,missense_variant,p.Ala219Asp,ENST00000447246,;	T	ENST00000260665	Transcript	missense_variant	792/6335	734/4185	245/1394	A/D	gCt/gAt	rs540075575	1		-1	LRPPRC	HGNC	HGNC:15714	protein_coding	YES	CCDS33189.1	ENSP00000260665	P42704	E5KNY5	UPI000019B4D2	NM_133259.3	deleterious(0)		6/38		PROSITE_profiles:PS51375,hmmpanther:PTHR24015,hmmpanther:PTHR24015:SF187,TIGRFAM_domain:TIGR00756,Pfam_domain:PF17177																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	43976146	43976146	G	T	1	0	0	0	0	1	0	0	0	8860	985	34	2		2	LRPPRC	2	43976146	Missense_Mutation	SNP	G	C3N-01405_TP	175296	43976146	198217383	74	24021											
NRXN1	0	.	GRCh38	chr2	50053295	50053295	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctaatgggttcttttgtcggGggctttcctcttctggctgt	2	18	12	9	1	3	0	0	0	3	0	5	0	4	0	1	4	0	3	1	4	1	6	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.4224C>A	p.=	p.P1408P	ENST00000404971	22/24	240	195	45	175	175	0	strelka-varscan	NRXN1,synonymous_variant,p.=,ENST00000406316,NM_004801.4;NRXN1,synonymous_variant,p.=,ENST00000625672,;NRXN1,synonymous_variant,p.=,ENST00000404971,NM_001135659.1;NRXN1,synonymous_variant,p.=,ENST00000401669,;NRXN1,synonymous_variant,p.=,ENST00000405472,;NRXN1,synonymous_variant,p.=,ENST00000630543,;NRXN1,synonymous_variant,p.=,ENST00000342183,NM_138735.2;NRXN1,synonymous_variant,p.=,ENST00000401710,;NRXN1,synonymous_variant,p.=,ENST00000628364,;NRXN1,synonymous_variant,p.=,ENST00000611589,;NRXN1,non_coding_transcript_exon_variant,,ENST00000637889,;NRXN1,non_coding_transcript_exon_variant,,ENST00000635264,;NRXN1,3_prime_UTR_variant,,ENST00000637906,;	T	ENST00000404971	Transcript	synonymous_variant	5564/7578	4224/4644	1408/1547	P	ccC/ccA		1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1			22/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	74	50053295	50053295	G	T	1	0	0	0	0	0	0	0	1	10724	1219	43	2		2	NRXN1	2	50053295	Silent	SNP	G	C3N-01405_TP	6077149	50053295	192140234	75	24022											
NRXN1	0	.	GRCh38	chr2	50053493	50053493	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaactttcaagccattGtagtacagcccagagagctg	12	10	9	10	0	2	2	2	0	0	2	2	3	2	2	2	0	5	3	2	0	4	5	rs774439924		C3N-01405_TP	C3N-01405_NB	G	G																c.4026C>A	p.Tyr1342Ter	p.Y1342*	ENST00000404971	22/24	439	341	98	298	298	0	strelka-varscan	NRXN1,stop_gained,p.Tyr1272Ter,ENST00000406316,NM_004801.4;NRXN1,stop_gained,p.Tyr1294Ter,ENST00000625672,;NRXN1,stop_gained,p.Tyr1342Ter,ENST00000404971,NM_001135659.1;NRXN1,stop_gained,p.Tyr1302Ter,ENST00000401669,;NRXN1,stop_gained,p.Tyr1290Ter,ENST00000405472,;NRXN1,stop_gained,p.Tyr1294Ter,ENST00000630543,;NRXN1,stop_gained,p.Tyr237Ter,ENST00000342183,NM_138735.2;NRXN1,stop_gained,p.Tyr267Ter,ENST00000401710,;NRXN1,stop_gained,p.Tyr267Ter,ENST00000628364,;NRXN1,5_prime_UTR_variant,,ENST00000611589,;NRXN1,non_coding_transcript_exon_variant,,ENST00000637889,;NRXN1,non_coding_transcript_exon_variant,,ENST00000635264,;NRXN1,3_prime_UTR_variant,,ENST00000637906,;	T	ENST00000404971	Transcript	stop_gained	5366/7578	4026/4644	1342/1547	Y/*	taC/taA	rs774439924	1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1			22/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	74	50053493	50053493	G	T	1	0	0	0	0	0	1	0	0	10724	1372	48	2		2	NRXN1	2	50053493	Nonsense_Mutation	SNP	G	C3N-01405_TP	198	50053493	192140036	76	24023											
AFTPH	0	.	GRCh38	chr2	64552384	64552384	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtttcagaaataagcAtagtgactaacagaggtttc	13	14	9	5	0	1	3	1	1	0	2	2	3	1	3	0	1	2	3	0	1	4	6	rs138916712		C3N-01405_TP	C3N-01405_NB	A	A																c.910A>T	p.Ile304Leu	p.I304L	ENST00000238855	2/10	187	136	51	129	129	0	strelka-varscan	AFTPH,missense_variant,p.Ile304Leu,ENST00000238855,NM_203437.3;AFTPH,missense_variant,p.Ile304Leu,ENST00000238856,NM_001002243.2,NM_017657.4;AFTPH,missense_variant,p.Ile304Leu,ENST00000409933,;AFTPH,upstream_gene_variant,,ENST00000409183,;AC008074.1,downstream_gene_variant,,ENST00000623932,;AFTPH,non_coding_transcript_exon_variant,,ENST00000498706,;AFTPH,upstream_gene_variant,,ENST00000487769,;	T	ENST00000238855	Transcript	missense_variant	1250/4113	910/2811	304/936	I/L	Ata/Tta	rs138916712	1		1	AFTPH	HGNC	HGNC:25951	protein_coding	YES	CCDS46303.1	ENSP00000238855	Q6ULP2		UPI00003E1F8E	NM_203437.3	tolerated_low_confidence(1)		2/10		hmmpanther:PTHR16156:SF9,hmmpanther:PTHR16156																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	74	64552384	64552384	A	T	1	0	0	0	0	1	0	0	0	441	217	8	4		4	AFTPH	2	64552384	Missense_Mutation	SNP	A	C3N-01405_TP	14498891	64552384	177641145	77	24024											
MEIS1	0	.	GRCh38	chr2	66569095	66569095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgggcatggaggggcagtGgcactacatgtaaccttcat	10	10	13	8	0	1	0	1	0	0	0	1	1	1	1	1	5	2	4	1	5	3	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1160G>T	p.Trp387Leu	p.W387L	ENST00000272369	12/13	241	197	44	132	132	0	strelka-varscan	MEIS1,missense_variant,p.Trp387Leu,ENST00000272369,NM_002398.2;MEIS1,missense_variant,p.Trp322Leu,ENST00000495021,;MEIS1,3_prime_UTR_variant,,ENST00000488550,;MEIS1,intron_variant,,ENST00000398506,;MEIS1,downstream_gene_variant,,ENST00000560281,;AC007392.3,upstream_gene_variant,,ENST00000433396,;MEIS1,non_coding_transcript_exon_variant,,ENST00000409517,;MEIS1,intron_variant,,ENST00000542964,;MEIS1,downstream_gene_variant,,ENST00000475239,;MEIS1,downstream_gene_variant,,ENST00000606455,;MEIS1,downstream_gene_variant,,ENST00000450027,;	T	ENST00000272369	Transcript	missense_variant	1617/4291	1160/1173	387/390	W/L	tGg/tTg		1		1	MEIS1	HGNC	HGNC:7000	protein_coding	YES	CCDS46309.1	ENSP00000272369	O00470		UPI000000DA5A	NM_002398.2	deleterious_low_confidence(0)		12/13		hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF126																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	66569095	66569095	G	T	1	0	0	0	0	1	0	0	0	9411	1357	47	2		2	MEIS1	2	66569095	Missense_Mutation	SNP	G	C3N-01405_TP	2016711	66569095	175624434	78	24025											
RAB11FIP5	0	.	GRCh38	chr2	73089189	73089189	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgctgaagggagacctTggcttgtccttcatggacag	8	12	12	9	0	2	2	1	1	1	1	3	4	3	3	2	3	1	2	2	3	1	4	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.558A>C	p.=	p.P186P	ENST00000258098	2/5	593	490	103	399	399	0	strelka-varscan	RAB11FIP5,synonymous_variant,p.=,ENST00000486777,;RAB11FIP5,synonymous_variant,p.=,ENST00000258098,NM_015470.2;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000493523,;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000475951,;RAB11FIP5,upstream_gene_variant,,ENST00000482554,;RAB11FIP5,upstream_gene_variant,,ENST00000479196,;	G	ENST00000258098	Transcript	synonymous_variant	799/4342	558/1962	186/653	P	ccA/ccC		1		-1	RAB11FIP5	HGNC	HGNC:24845	protein_coding	YES	CCDS1923.1	ENSP00000258098	Q9BXF6		UPI000007079C	NM_015470.2			2/5		hmmpanther:PTHR15746:SF14,hmmpanther:PTHR15746																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	74	73089189	73089189	T	G	1	0	0	0	0	0	0	0	1	13055	1799	63	5		5	RAB11FIP5	2	73089189	Silent	SNP	T	C3N-01405_TP	6520094	73089189	169104340	79	24026											
REG1A	0	.	GRCh38	chr2	79120925	79120925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctgtctcagagccaaGgtaagatctcttttccacca	9	14	7	11	0	3	2	1	0	3	2	6	2	4	2	3	1	1	2	3	1	2	4			C3N-01405_TP	C3N-01405_NB	G	G																c.64G>T	p.Gly22Cys	p.G22C	ENST00000233735	2/6	72	65	7	56	56	0	strelka-varscan	REG1A,missense_variant,p.Gly22Cys,ENST00000233735,NM_002909.4;REG1A,splice_region_variant,,ENST00000488524,;REG1A,splice_region_variant,,ENST00000485184,;REG1A,splice_region_variant,,ENST00000461579,;	T	ENST00000233735	Transcript	missense_variant,splice_region_variant	167/808	64/501	22/166	G/C	Ggc/Tgc	COSM5646780	1		1	REG1A	HGNC	HGNC:9951	protein_coding	YES	CCDS1964.1	ENSP00000233735	P05451		UPI000012E72D	NM_002909.4	deleterious(0)		2/6		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF55											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	74	79120925	79120925	G	T	1	0	0	0	0	1	0	0	0	13380	1014	35	2		2	REG1A	2	79120925	Missense_Mutation	SNP	G	C3N-01405_TP	6031736	79120925	163072604	80	24027											
CTNNA2	0	.	GRCh38	chr2	80545022	80545022	+	Missense_Mutation	SNP	G	G	T																															catctccaacaatgaagaagGggtgaaattagttcggatgg																								novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1331G>T	p.Gly444Val	p.G444V	ENST00000402739	9/18	175	160	15	173	173	0	strelka-varscan	CTNNA2,missense_variant,p.Gly444Val,ENST00000466387,;CTNNA2,missense_variant,p.Gly444Val,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Gly444Val,ENST00000402739,NM_001282597.2;CTNNA2,missense_variant,p.Gly444Val,ENST00000629316,NM_001164883.1;CTNNA2,missense_variant,p.Gly60Val,ENST00000361291,NM_001320810.1;CTNNA2,missense_variant,p.Gly123Val,ENST00000343114,NM_001282599.1;CTNNA2,missense_variant,p.Gly76Val,ENST00000541047,NM_001282600.1;CTNNA2,missense_variant,p.Gly60Val,ENST00000540488,;CTNNA2,missense_variant,p.Gly109Val,ENST00000409550,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000493024,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000465616,;	T	ENST00000402739	Transcript	missense_variant	1336/3684	1331/2862	444/953	G/V	gGg/gTg		1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2	deleterious(0)		9/18		Gene3D:1.20.120.230,Pfam_domain:PF01044,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Superfamily_domains:SSF47220																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	80545022	80545022	G	T	1	0	0	0	0	1	0	0	0	3822	1232	43	2		2	CTNNA2	2	80545022	Missense_Mutation	SNP	G	C3N-01405_TP	1424097	80545022	161648507	81	24028	506	2									
CTNNA2	0	.	GRCh38	chr2	80545023	80545023	+	Silent	SNP	G	G	C																															atctccaacaatgaagaaggGgtgaaattagttcggatggc																								novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1332G>C	p.=	p.G444G	ENST00000402739	9/18	174	159	15	174	174	0	strelka-varscan	CTNNA2,synonymous_variant,p.=,ENST00000466387,;CTNNA2,synonymous_variant,p.=,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,synonymous_variant,p.=,ENST00000402739,NM_001282597.2;CTNNA2,synonymous_variant,p.=,ENST00000629316,NM_001164883.1;CTNNA2,synonymous_variant,p.=,ENST00000361291,NM_001320810.1;CTNNA2,synonymous_variant,p.=,ENST00000343114,NM_001282599.1;CTNNA2,synonymous_variant,p.=,ENST00000541047,NM_001282600.1;CTNNA2,synonymous_variant,p.=,ENST00000540488,;CTNNA2,synonymous_variant,p.=,ENST00000409550,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000493024,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000465616,;	C	ENST00000402739	Transcript	synonymous_variant	1337/3684	1332/2862	444/953	G	ggG/ggC		1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2			9/18		Gene3D:1.20.120.230,Pfam_domain:PF01044,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23,Superfamily_domains:SSF47220																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	74	80545023	80545023	G	C	1	0	0	0	0	0	0	0	1	3822	1219	43	4		4	CTNNA2	2	80545023	Silent	SNP	G	C3N-01405_TP	1	80545023	161648506	82	24029	506	2									
DNAH6	0	.	GRCh38	chr2	84707000	84707000	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgaatatgacaaaggtgtAaatgaaaaagaaagcctggg	19	7	12	3	0	0	4	0	3	0	1	0	5	0	4	1	2	1	1	1	2	8	2	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.8832A>G	p.=	p.V2944V	ENST00000389394	53/77	150	113	37	157	157	0	strelka-varscan	DNAH6,synonymous_variant,p.=,ENST00000389394,NM_001370.1;DNAH6,synonymous_variant,p.=,ENST00000237449,;	G	ENST00000389394	Transcript	synonymous_variant	8969/12795	8832/12477	2944/4158	V	gtA/gtG		1		1	DNAH6	HGNC	HGNC:2951	protein_coding	YES	CCDS46348.1	ENSP00000374045	Q9C0G6		UPI000163AC9D	NM_001370.1			53/77		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136,Pfam_domain:PF12777																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	74	84707000	84707000	A	G	1	0	0	0	0	0	0	0	1	4420	349	13	5		5	DNAH6	2	84707000	Silent	SNP	A	C3N-01405_TP	4161977	84707000	157486529	83	24030											
SNRNP200	0	.	GRCh38	chr2	96297424	96297424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacctcttcatagcccttaCgctggcgacggaaggatcca	9	8	10	14	3	2	0	1	0	1	0	3	3	3	2	3	3	2	2	3	3	3	3	rs754637490		C3N-01405_TP	C3N-01405_NB	C	C																c.1316G>T	p.Arg439Leu	p.R439L	ENST00000323853	11/45	465	380	85	327	327	0	strelka-varscan	SNRNP200,missense_variant,p.Arg439Leu,ENST00000323853,NM_014014.4;	A	ENST00000323853	Transcript	missense_variant	1394/7165	1316/6411	439/2136	R/L	cGt/cTt	rs754637490	1		-1	SNRNP200	HGNC	HGNC:30859	protein_coding	YES	CCDS2020.1	ENSP00000317123	O75643		UPI0000207C53	NM_014014.4	tolerated(0.63)		11/45		PIRSF_domain:PIRSF039073,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	96297424	96297424	C	A	1	0	0	0	0	1	0	0	0	15172	536	19	1		1	SNRNP200	2	96297424	Missense_Mutation	SNP	C	C3N-01405_TP	11590424	96297424	145896105	84	24031											
RNF149	0	.	GRCh38	chr2	101308278	101308278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacccagggcgcggcccctCggccgccgggctcgggcacg	3	2	17	19	8	0	0	0	0	0	0	2	1	0	0	5	5	0	2	5	5	0	0	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.311G>T	p.Arg104Leu	p.R104L	ENST00000295317	1/7	225	199	26	160	160	0	strelka-varscan	RNF149,missense_variant,p.Arg104Leu,ENST00000295317,NM_173647.3;MIR5696,upstream_gene_variant,,ENST00000578474,;RNF149,missense_variant,p.Arg104Leu,ENST00000424632,;	A	ENST00000295317	Transcript	missense_variant	419/2458	311/1203	104/400	R/L	cGa/cTa		1		-1	RNF149	HGNC	HGNC:23137	protein_coding	YES	CCDS2051.1	ENSP00000295317	Q8NC42		UPI0000366F4A	NM_173647.3	tolerated(0.4)		1/7		Gene3D:3.50.30.30,hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF39,Superfamily_domains:SSF52025																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	101308278	101308278	C	A	1	0	0	0	0	1	0	0	0	13628	884	31	1		1	RNF149	2	101308278	Missense_Mutation	SNP	C	C3N-01405_TP	5010854	101308278	140885251	85	24032											
IL18R1	0	.	GRCh38	chr2	102386925	102386925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatattggtgaaagcaatCtaaatgttttatataattgc	17	15	6	3	0	1	1	0	1	1	0	1	1	1	1	0	1	2	2	0	1	10	8	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.874C>A	p.Leu292Ile	p.L292I	ENST00000409599	9/12	331	280	51	245	243	2	strelka-varscan	IL18R1,missense_variant,p.Leu292Ile,ENST00000409599,;IL18R1,missense_variant,p.Leu292Ile,ENST00000233957,NM_003855.3,NM_001282399.1;IL18R1,missense_variant,p.Leu292Ile,ENST00000410040,;	A	ENST00000409599	Transcript	missense_variant	1230/3854	874/1626	292/541	L/I	Cta/Ata		1		1	IL18R1	HGNC	HGNC:5988	protein_coding	YES	CCDS2060.1	ENSP00000387211	Q13478		UPI000012D871		tolerated(0.06)		9/12		PROSITE_profiles:PS50835,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF6,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	74	102386925	102386925	C	A	1	0	0	0	0	1	0	0	0	7555	912	32	2		2	IL18R1	2	102386925	Missense_Mutation	SNP	C	C3N-01405_TP	1078647	102386925	139806604	86	24033											
ST6GAL2	0	.	GRCh38	chr2	106843733	106843733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaccggctgggtgggcgCggggcagcgcctggcgtgcg	4	4	22	11	6	0	0	0	0	0	0	0	1	0	1	2	7	3	2	2	7	1	0	rs751305558		C3N-01405_TP	C3N-01405_NB	C	C																c.245G>A	p.Arg82His	p.R82H	ENST00000409382	2/6	98	81	17	72	72	0	strelka-varscan	ST6GAL2,missense_variant,p.Arg82His,ENST00000409382,NM_001142351.1;ST6GAL2,missense_variant,p.Arg82His,ENST00000361686,NM_001322362.1,NM_032528.2;ST6GAL2,missense_variant,p.Arg82His,ENST00000409087,NM_001142352.1;ST6GAL2,downstream_gene_variant,,ENST00000419159,;AC016994.2,downstream_gene_variant,,ENST00000425419,;	T	ENST00000409382	Transcript	missense_variant	856/7275	245/1590	82/529	R/H	cGc/cAc	rs751305558	1		-1	ST6GAL2	HGNC	HGNC:10861	protein_coding	YES	CCDS2073.1	ENSP00000386942	Q96JF0		UPI000007477B	NM_001142351.1			2/6		hmmpanther:PTHR13713:SF61,hmmpanther:PTHR13713																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	106843733	106843733	C	T	1	0	0	0	0	1	0	0	0	15600	768	27	1		1	ST6GAL2	2	106843733	Missense_Mutation	SNP	C	C3N-01405_TP	4456808	106843733	135349796	87	24034											
LRP1B	0	.	GRCh38	chr2	140867687	140867687	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccctgtccacttattggcTttggacaatgtgttggtcct	5	16	10	10	0	0	0	0	0	0	0	2	1	2	1	3	3	1	2	3	3	2	4	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.4482A>T	p.Lys1494Asn	p.K1494N	ENST00000389484	27/91	176	166	10	157	157	0	strelka-varscan	LRP1B,missense_variant,p.Lys1494Asn,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Lys639Asn,ENST00000434794,;	A	ENST00000389484	Transcript	missense_variant	5454/16535	4482/13800	1494/4599	K/N	aaA/aaT		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0)		27/91		PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	140867687	140867687	T	A	1	0	0	0	0	1	0	0	0	8850	1606	56	4		4	LRP1B	2	140867687	Missense_Mutation	SNP	T	C3N-01405_TP	34023954	140867687	101325842	88	24035											
KCNJ3	0	.	GRCh38	chr2	154855134	154855134	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttcaacgaataagttcaGttccgggcaactcagaagaa	16	8	8	9	2	3	2	3	0	0	2	4	3	4	2	1	1	3	3	1	1	7	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1327G>C	p.Val443Leu	p.V443L	ENST00000295101	3/3	178	162	16	162	162	0	strelka-varscan	KCNJ3,missense_variant,p.Val443Leu,ENST00000295101,NM_002239.3;KCNJ3,3_prime_UTR_variant,,ENST00000544049,NM_001260508.1;KCNJ3,downstream_gene_variant,,ENST00000493505,;	C	ENST00000295101	Transcript	missense_variant	1804/5021	1327/1506	443/501	V/L	Gtt/Ctt		1		1	KCNJ3	HGNC	HGNC:6264	protein_coding	YES	CCDS2200.1	ENSP00000295101	P48549		UPI000012D899	NM_002239.3	tolerated_low_confidence(0.2)		3/3		Prints_domain:PR01327																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	74	154855134	154855134	G	C	1	0	0	0	0	1	0	0	0	7969	1029	36	4		4	KCNJ3	2	154855134	Missense_Mutation	SNP	G	C3N-01405_TP	13987447	154855134	87338395	89	24036											
CCDC148	0	.	GRCh38	chr2	158220617	158220617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgtcttttagtgactGttcagcgattaatttcttca	7	20	6	8	1	5	1	2	1	3	0	6	2	5	1	0	0	1	1	0	0	2	7	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1348C>A	p.Gln450Lys	p.Q450K	ENST00000283233	11/14	167	129	38	213	213	0	strelka-varscan	CCDC148,missense_variant,p.Gln450Lys,ENST00000283233,NM_138803.3,NM_001301684.1;CCDC148,missense_variant,p.Gln459Lys,ENST00000409187,;CCDC148-AS1,intron_variant,,ENST00000412781,;CCDC148,3_prime_UTR_variant,,ENST00000454257,;CCDC148,3_prime_UTR_variant,,ENST00000448656,;	T	ENST00000283233	Transcript	missense_variant	1662/3122	1348/1776	450/591	Q/K	Cag/Aag		1		-1	CCDC148	HGNC	HGNC:25191	protein_coding	YES	CCDS33304.1	ENSP00000283233	Q8NFR7		UPI0000208F63	NM_138803.3,NM_001301684.1	deleterious(0)		11/14		hmmpanther:PTHR21549,hmmpanther:PTHR21549:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	158220617	158220617	G	T	1	0	0	0	0	1	0	0	0	2468	1386	48	2		2	CCDC148	2	158220617	Missense_Mutation	SNP	G	C3N-01405_TP	3365483	158220617	83972912	90	24037											
PLA2R1	0	.	GRCh38	chr2	159984005	159984005	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttgcaagatgagctccAaattcttcgcaaaatgcttc	13	11	7	10	1	1	2	0	1	1	1	4	2	2	2	1	0	4	5	1	0	5	4	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.2106T>C	p.=	p.F702F	ENST00000283243	13/30	107	80	27	135	135	0	strelka-varscan	PLA2R1,synonymous_variant,p.=,ENST00000283243,NM_007366.4,NM_001195641.1;PLA2R1,synonymous_variant,p.=,ENST00000392771,NM_001007267.2;	G	ENST00000283243	Transcript	synonymous_variant	2313/14371	2106/4392	702/1463	F	ttT/ttC		1		-1	PLA2R1	HGNC	HGNC:9042	protein_coding	YES	CCDS33309.1	ENSP00000283243	Q13018		UPI00001AEA9D	NM_007366.4,NM_001195641.1			13/30		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF74,SMART_domains:SM00034,Superfamily_domains:SSF56436																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	74	159984005	159984005	A	G	1	0	0	0	0	0	0	0	1	12106	127	5	5		5	PLA2R1	2	159984005	Silent	SNP	A	C3N-01405_TP	1763388	159984005	82209524	91	24038											
SCN7A	0	.	GRCh38	chr2	166429244	166429244	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagcaatatcaacagtacTgcattcagatgagctagatt	15	11	8	7	0	2	3	2	1	0	2	2	4	2	3	0	0	5	4	0	0	6	6			C3N-01405_TP	C3N-01405_NB	T	T																c.2623A>T	p.Ser875Cys	p.S875C	ENST00000409855	16/25	171	126	45	173	173	0	strelka-varscan	SCN7A,missense_variant,p.Ser875Cys,ENST00000619410,;SCN7A,missense_variant,p.Ser875Cys,ENST00000621965,;SCN7A,missense_variant,p.Ser875Cys,ENST00000409855,NM_002976.3;SCN7A,downstream_gene_variant,,ENST00000419992,;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	A	ENST00000409855	Transcript	missense_variant	2750/7183	2623/5049	875/1682	S/C	Agt/Tgt	COSM3313741,COSM3313742	1		-1	SCN7A	HGNC	HGNC:10594	protein_coding	YES	CCDS46442.1	ENSP00000386796	Q01118		UPI0000209019	NM_002976.3	deleterious(0.01)		16/25		Low_complexity_(Seg):seg,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14,Pfam_domain:PF06512											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	74	166429244	166429244	T	A	1	0	0	0	0	1	0	0	0	14192	1580	55	4		4	SCN7A	2	166429244	Missense_Mutation	SNP	T	C3N-01405_TP	6445239	166429244	75764285	92	24039											
SCN7A	0	.	GRCh38	chr2	166465882	166465882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaagttgcccatgaagagcCccatcccaattagagaaaat	15	8	7	11	0	1	3	1	1	0	2	2	4	2	3	4	0	2	1	4	0	6	2	rs560243693		C3N-01405_TP	C3N-01405_NB	C	C																c.770G>T	p.Gly257Val	p.G257V	ENST00000409855	7/25	325	259	66	275	275	0	strelka-varscan	SCN7A,missense_variant,p.Gly257Val,ENST00000619410,;SCN7A,missense_variant,p.Gly257Val,ENST00000621965,;SCN7A,missense_variant,p.Gly257Val,ENST00000409855,NM_002976.3;SCN7A,missense_variant,p.Gly257Val,ENST00000419992,;SCN7A,missense_variant,p.Gly257Val,ENST00000441411,;SCN7A,missense_variant,p.Gly257Val,ENST00000424326,;SCN7A,upstream_gene_variant,,ENST00000497562,;	A	ENST00000409855	Transcript	missense_variant	897/7183	770/5049	257/1682	G/V	gGg/gTg	rs560243693	1		-1	SCN7A	HGNC	HGNC:10594	protein_coding	YES	CCDS46442.1	ENSP00000386796	Q01118		UPI0000209019	NM_002976.3	deleterious(0)		7/25		Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	166465882	166465882	C	A	1	0	0	0	0	1	0	0	0	14192	623	22	2		2	SCN7A	2	166465882	Missense_Mutation	SNP	C	C3N-01405_TP	36638	166465882	75727647	93	24040											
G6PC2	0	.	GRCh38	chr2	168907954	168907954	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttcctccagatcccgactCacgaagagcatttattttat	11	14	5	11	2	1	2	1	0	0	2	4	4	4	2	3	0	1	1	3	0	3	5	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.943C>G	p.His315Asp	p.H315D	ENST00000375363	5/5	456	358	98	375	375	0	strelka-varscan	G6PC2,missense_variant,p.His315Asp,ENST00000375363,NM_021176.2;SPC25,intron_variant,,ENST00000451987,;G6PC2,downstream_gene_variant,,ENST00000429379,NM_001081686.1;G6PC2,downstream_gene_variant,,ENST00000421979,;G6PC2,non_coding_transcript_exon_variant,,ENST00000461586,;SPC25,intron_variant,,ENST00000472216,;G6PC2,3_prime_UTR_variant,,ENST00000282075,;	G	ENST00000375363	Transcript	missense_variant	1035/1214	943/1068	315/355	H/D	Cac/Gac		1		1	G6PC2	HGNC	HGNC:28906	protein_coding	YES	CCDS2230.1	ENSP00000364512	Q9NQR9		UPI0000048D51	NM_021176.2	tolerated(0.46)		5/5		PIRSF_domain:PIRSF000905,hmmpanther:PTHR12591,hmmpanther:PTHR12591:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	168907954	168907954	C	G	1	0	0	0	0	1	0	0	0	6015	826	29	4		4	G6PC2	2	168907954	Missense_Mutation	SNP	C	C3N-01405_TP	2442072	168907954	73285575	94	24041											
LRP2	0	.	GRCh38	chr2	169280391	169280391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaaaactctttgcaggtGatagtggaaagccacaccca	15	7	8	11	0	1	1	0	1	1	0	1	2	1	2	3	2	3	1	3	2	5	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1300C>A	p.His434Asn	p.H434N	ENST00000263816	11/79	247	227	20	209	209	0	strelka-varscan	LRP2,missense_variant,p.His434Asn,ENST00000263816,NM_004525.2;LRP2,missense_variant,p.His434Asn,ENST00000443831,;	T	ENST00000263816	Transcript	missense_variant	1586/15808	1300/13968	434/4655	H/N	Cac/Aac		1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2	tolerated(0.47)		11/79		Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	169280391	169280391	G	T	1	0	0	0	0	1	0	0	0	8851	1290	45	2		2	LRP2	2	169280391	Missense_Mutation	SNP	G	C3N-01405_TP	372437	169280391	72913138	95	24042											
UBR3	0	.	GRCh38	chr2	169895194	169895194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcagatcaatccataatGgatgttttgaagcataaaag	15	12	9	5	0	1	2	1	1	0	1	2	3	2	3	1	1	2	3	1	1	5	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1119G>T	p.Met373Ile	p.M373I	ENST00000418381	7/39	60	51	9	96	96	0	strelka-varscan	UBR3,missense_variant,p.Met373Ile,ENST00000272793,;UBR3,missense_variant,p.Met373Ile,ENST00000418381,NM_172070.3;	T	ENST00000418381	Transcript	missense_variant	1119/7951	1119/5667	373/1888	M/I	atG/atT		1		1	UBR3	HGNC	HGNC:30467	protein_coding	YES	CCDS2238.2	ENSP00000396068	Q6ZT12		UPI00015FA088	NM_172070.3	tolerated(0.23)		7/39		hmmpanther:PTHR21497																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	74	169895194	169895194	G	T	1	0	0	0	0	1	0	0	0	17427	1348	47	2		2	UBR3	2	169895194	Missense_Mutation	SNP	G	C3N-01405_TP	614803	169895194	72298335	96	24043											
SP3	0	.	GRCh38	chr2	173955575	173955575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggagaaacccgctcacCagtcctttctgaattgtctg	10	11	8	12	1	4	2	2	1	2	1	5	3	5	2	3	1	1	1	3	1	2	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.937G>T	p.Gly313Cys	p.G313C	ENST00000310015	4/7	290	229	61	293	292	1	strelka-varscan	SP3,missense_variant,p.Gly313Cys,ENST00000310015,NM_003111.4,NM_001172712.1;SP3,missense_variant,p.Gly245Cys,ENST00000418194,NM_001017371.4;SP3,missense_variant,p.Gly270Cys,ENST00000416195,;SP3,downstream_gene_variant,,ENST00000483084,;SP3,downstream_gene_variant,,ENST00000462904,;SP3,downstream_gene_variant,,ENST00000490182,;	A	ENST00000310015	Transcript	missense_variant	1468/6359	937/2346	313/781	G/C	Ggt/Tgt		1		-1	SP3	HGNC	HGNC:11208	protein_coding	YES	CCDS2254.1	ENSP00000310301	Q02447		UPI000019B3E0	NM_003111.4,NM_001172712.1	deleterious(0.01)		4/7		hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	173955575	173955575	C	A	1	0	0	0	0	1	0	0	0	15291	594	21	2		2	SP3	2	173955575	Missense_Mutation	SNP	C	C3N-01405_TP	4060381	173955575	68237954	97	24044											
HOXD9	0	.	GRCh38	chr2	176123286	176123286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccccggcccccgccacggCcgcctccaccacctcctcct	3	4	8	26	4	0	0	0	0	0	0	3	0	3	0	12	3	0	0	12	3	0	0	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.518C>A	p.Ala173Asp	p.A173D	ENST00000249499	1/2	74	55	19	57	57	0	strelka-varscan	HOXD9,missense_variant,p.Ala173Asp,ENST00000249499,NM_014213.3;HOXD10,downstream_gene_variant,,ENST00000249501,NM_002148.3;HOXD-AS2,intron_variant,,ENST00000440016,;HOXD10,downstream_gene_variant,,ENST00000490088,;HOXD10,downstream_gene_variant,,ENST00000549469,;	A	ENST00000249499	Transcript	missense_variant	567/1870	518/1059	173/352	A/D	gCc/gAc		1		1	HOXD9	HGNC	HGNC:5140	protein_coding	YES	CCDS2267.2	ENSP00000249499	P28356		UPI000004A10E	NM_014213.3	tolerated(0.64)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF113,Pfam_domain:PF04617																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	176123286	176123286	C	A	1	0	0	0	0	1	0	0	0	7220	739	26	2		2	HOXD9	2	176123286	Missense_Mutation	SNP	C	C3N-01405_TP	2167711	176123286	66070243	98	24045											
DNAJC10	0	.	GRCh38	chr2	182743677	182743677	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccgtctctagcagtatttaAaggacaaggaaccaaagaat	16	8	9	8	1	1	1	0	0	1	1	2	3	1	3	2	2	2	2	2	2	8	4	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.1271A>T	p.Lys424Ile	p.K424I	ENST00000264065	14/24	192	180	12	218	218	0	strelka-varscan	DNAJC10,missense_variant,p.Lys424Ile,ENST00000264065,NM_018981.2;DNAJC10,missense_variant,p.Lys378Ile,ENST00000616986,NM_001271581.1;DNAJC10,intron_variant,,ENST00000613960,;DNAJC10,downstream_gene_variant,,ENST00000537515,;DNAJC10,3_prime_UTR_variant,,ENST00000418559,;DNAJC10,non_coding_transcript_exon_variant,,ENST00000491074,;DNAJC10,downstream_gene_variant,,ENST00000444005,;	T	ENST00000264065	Transcript	missense_variant	1686/20129	1271/2382	424/793	K/I	aAa/aTa		1		1	DNAJC10	HGNC	HGNC:24637	protein_coding	YES	CCDS33345.1	ENSP00000264065	Q8IXB1		UPI000007376C	NM_018981.2	deleterious(0)		14/24		hmmpanther:PTHR24078:SF235,hmmpanther:PTHR24078,Gene3D:3.40.30.10,PIRSF_domain:PIRSF037293,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	182743677	182743677	A	T	1	0	0	0	0	1	0	0	0	4443	14	1	4		4	DNAJC10	2	182743677	Missense_Mutation	SNP	A	C3N-01405_TP	6620391	182743677	59449852	99	24046											
ZNF804A	0	.	GRCh38	chr2	184935946	184935946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaagatgctaccactgttGctgaagatccagaaagtgca	14	9	9	9	0	0	4	0	1	0	3	1	4	1	4	2	0	4	4	2	0	5	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.550G>T	p.Ala184Ser	p.A184S	ENST00000302277	4/4	164	119	45	142	142	0	strelka-varscan	ZNF804A,missense_variant,p.Ala184Ser,ENST00000302277,NM_194250.1;ZNF804A,missense_variant,p.Ala99Ser,ENST00000613975,;	T	ENST00000302277	Transcript	missense_variant	1144/4690	550/3630	184/1209	A/S	Gct/Tct		1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1	tolerated(0.84)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	184935946	184935946	G	T	1	0	0	0	0	1	0	0	0	18755	1319	46	2		2	ZNF804A	2	184935946	Missense_Mutation	SNP	G	C3N-01405_TP	2192269	184935946	57257583	100	24047											
DNAH7	0	.	GRCh38	chr2	195897746	195897746	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagcagcaaaatttcttcaTtttcatttggatatttcagc	12	17	5	7	0	4	0	3	0	1	0	4	1	4	1	0	1	3	2	0	1	4	8	rs769316672		C3N-01405_TP	C3N-01405_NB	T	T																c.4568A>T	p.Asn1523Ile	p.N1523I	ENST00000312428	29/65	60	40	20	75	74	1	strelka-varscan	DNAH7,missense_variant,p.Asn1523Ile,ENST00000312428,NM_018897.2;DNAH7,non_coding_transcript_exon_variant,,ENST00000475293,;	A	ENST00000312428	Transcript	missense_variant	4669/12394	4568/12075	1523/4024	N/I	aAt/aTt	rs769316672	1		-1	DNAH7	HGNC	HGNC:18661	protein_coding	YES	CCDS42794.1	ENSP00000311273	Q8WXX0		UPI0000141B95	NM_018897.2	deleterious(0)		29/65		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	195897746	195897746	T	A	1	0	0	0	0	1	0	0	0	4421	1493	52	4		4	DNAH7	2	195897746	Missense_Mutation	SNP	T	C3N-01405_TP	10961800	195897746	46295783	101	24048											
MARCH4	0	.	GRCh38	chr2	216259317	216259317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggcctctgctctcacaCtgtcgtgactctcatgacca	6	11	8	16	2	3	2	2	2	3	0	7	2	4	2	3	1	1	1	3	1	0	0	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1228G>A	p.Val410Met	p.V410M	ENST00000273067	4/4	13	7	6	16	16	0	strelka-varscan	MARCH4,missense_variant,p.Val410Met,ENST00000273067,NM_020814.2;AC012513.6,upstream_gene_variant,,ENST00000417481,;	T	ENST00000273067	Transcript	missense_variant	2995/4447	1228/1233	410/410	V/M	Gtg/Atg		1		-1	MARCH4	HGNC	HGNC:29269	protein_coding	YES	CCDS33376.1	ENSP00000273067	Q9P2E8		UPI00001C1DB9	NM_020814.2	deleterious(0)		4/4																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	216259317	216259317	C	T	1	0	0	0	0	1	0	0	0	9228	565	20	3		3	MARCH4	2	216259317	Missense_Mutation	SNP	C	C3N-01405_TP	20361571	216259317	25934212	102	24049											
PTPRN	0	.	GRCh38	chr2	219294992	219294992	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacctgcggaagtccagcagGggccgcgtggaggccggtgt	6	5	18	12	4	0	0	0	0	0	0	1	2	1	2	4	6	2	1	4	6	1	0			C3N-01405_TP	C3N-01405_NB	G	G																c.2658C>A	p.=	p.P886P	ENST00000295718	19/23	113	78	35	105	105	0	strelka-varscan	PTPRN,synonymous_variant,p.=,ENST00000295718,NM_002846.3;PTPRN,synonymous_variant,p.=,ENST00000409251,NM_001199763.1;PTPRN,synonymous_variant,p.=,ENST00000423636,NM_001199764.1;PTPRN,synonymous_variant,p.=,ENST00000443981,;MIR153-1,upstream_gene_variant,,ENST00000384914,;AC114803.3,upstream_gene_variant,,ENST00000417355,;PTPRN,non_coding_transcript_exon_variant,,ENST00000497977,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,upstream_gene_variant,,ENST00000460801,;PTPRN,downstream_gene_variant,,ENST00000489650,;PTPRN,downstream_gene_variant,,ENST00000486480,;	T	ENST00000295718	Transcript	synonymous_variant	2899/3784	2658/2940	886/979	P	ccC/ccA	COSM719895	1		-1	PTPRN	HGNC	HGNC:9676	protein_coding	YES	CCDS2440.1	ENSP00000295718	Q16849		UPI0000132999	NM_002846.3			19/23		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	74	219294992	219294992	G	T	1	0	0	0	0	0	0	0	1	12961	1219	43	2		2	PTPRN	2	219294992	Silent	SNP	G	C3N-01405_TP	3035675	219294992	22898537	103	24050											
SPEG	0	.	GRCh38	chr2	219484101	219484101	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaccccagcctgcccaagAcaaggctccagagcccaggc	10	2	10	19	1	0	2	0	0	0	2	1	2	1	2	6	2	3	2	6	2	2	0	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.6638A>T	p.Asp2213Val	p.D2213V	ENST00000312358	30/41	270	208	62	234	234	0	strelka-varscan	SPEG,missense_variant,p.Asp2213Val,ENST00000312358,NM_005876.4;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	T	ENST00000312358	Transcript	missense_variant	6770/10782	6638/9804	2213/3267	D/V	gAc/gTc		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	deleterious(0.01)		30/41		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF728,Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	74	219484101	219484101	A	T	1	0	0	0	0	1	0	0	0	15387	275	10	4		4	SPEG	2	219484101	Missense_Mutation	SNP	A	C3N-01405_TP	189109	219484101	22709428	104	24051											
NYAP2	0	.	GRCh38	chr2	225409048	225409048	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgaaactaacctagcCtatttgaaagagaagaatga	20	8	8	5	0	0	6	0	3	0	3	0	7	0	6	2	0	3	0	2	0	8	4	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.168C>G	p.=	p.A56A	ENST00000636099	3/7	209	158	51	223	223	0	strelka-varscan	NYAP2,synonymous_variant,p.=,ENST00000636099,;NYAP2,synonymous_variant,p.=,ENST00000272907,NM_020864.1;	G	ENST00000636099	Transcript	synonymous_variant	1214/5461	168/1962	56/653	A	gcC/gcG		1		1	NYAP2	HGNC	HGNC:29291	protein_coding	YES	CCDS46529.1	ENSP00000490942			UPI00001C1DB6				3/7		hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF1,Pfam_domain:PF15439																	LOW	1	SNV				1										PASS		.	.												G	2	3	74	225409048	225409048	C	G	1	0	0	0	0	0	0	0	1	10873	668	24	4		4	NYAP2	2	225409048	Silent	SNP	C	C3N-01405_TP	5924947	225409048	16784481	105	24052											
SNED1	0	.	GRCh38	chr2	241053295	241053295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgggtctgccagccacaCggtgtctggagtgagcctcc	6	8	13	14	2	2	1	0	1	2	0	4	2	4	2	5	3	3	0	5	3	0	0	rs376197439		C3N-01405_TP	C3N-01405_NB	C	C																c.2226C>G	p.His742Gln	p.H742Q	ENST00000310397	16/32	38	31	7	44	44	0	strelka-varscan-mutect	SNED1,missense_variant,p.His742Gln,ENST00000310397,NM_001080437.1;SNED1,missense_variant,p.His742Gln,ENST00000405547,;SNED1,missense_variant,p.His742Gln,ENST00000401884,;SNED1,downstream_gene_variant,,ENST00000401644,;SNED1,downstream_gene_variant,,ENST00000431690,;AC005237.4,intron_variant,,ENST00000458377,;SNED1,non_coding_transcript_exon_variant,,ENST00000469006,;SNED1,downstream_gene_variant,,ENST00000483962,;	G	ENST00000310397	Transcript	missense_variant	2226/8174	2226/4242	742/1413	H/Q	caC/caG	rs376197439,COSM2910037,COSM4311757	1		1	SNED1	HGNC	HGNC:24696	protein_coding	YES	CCDS46562.1	ENSP00000308893	Q8TER0		UPI0000DD7AB0	NM_001080437.1	tolerated(1)		16/32		PROSITE_profiles:PS50923,hmmpanther:PTHR24033,Gene3D:2gy5A03,SMART_domains:SM00032,Superfamily_domains:SSF57535											0,1,1						MODERATE		SNV	5		0,1,1	1										PASS		rs376197439	.												G	3	3	74	241053295	241053295	C	G	1	0	0	0	0	1	0	0	0	15166	535	19	4		4	SNED1	2	241053295	Missense_Mutation	SNP	C	C3N-01405_TP	15644247	241053295	1140234	106	24053											
CHL1	0	.	GRCh38	chr3	365997	365997	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatcctcgtatccccaaaTtgcatatgcttgaattacat	13	13	5	10	1	0	2	0	1	0	1	3	2	2	2	3	0	3	3	3	0	6	5	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.1633T>A	p.Leu545Met	p.L545M	ENST00000256509	15/28	210	188	22	159	158	1	strelka-mutect	CHL1,missense_variant,p.Leu545Met,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Leu545Met,ENST00000620033,NM_001253388.1;CHL1,missense_variant,p.Leu529Met,ENST00000397491,NM_001253387.1;CHL1-AS1,intron_variant,,ENST00000417612,;CHL1-AS1,intron_variant,,ENST00000608098,;CHL1,downstream_gene_variant,,ENST00000471332,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	A	ENST00000256509	Transcript	missense_variant	2275/8023	1633/3675	545/1224	L/M	Ttg/Atg		1		1	CHL1	HGNC	HGNC:1939	protein_coding	YES	CCDS2556.1	ENSP00000256509	O00533		UPI000013CF0F	NM_006614.3	deleterious(0.01)		15/28		Gene3D:2.60.40.10,Pfam_domain:PF00047,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF653,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	365997	365997	T	A	1	0	0	0	0	1	0	0	0	3108	1490	52	4		4	CHL1	3	365997	Missense_Mutation	SNP	T	C3N-01405_TP		365997	197929562	107	24054											
TOP2B	0	.	GRCh38	chr3	25598354	25598354	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcttcttcatcagactCtgcaaaatattttacttctt	10	19	2	10	0	7	1	2	0	5	1	7	1	7	1	0	0	2	1	0	0	4	8	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.4819G>T	p.Glu1607Ter	p.E1607*	ENST00000435706	36/36	128	120	8	118	118	0	strelka-varscan-mutect	TOP2B,stop_gained,p.Glu1607Ter,ENST00000435706,NM_001068.3;TOP2B,stop_gained,p.Glu1612Ter,ENST00000264331,;RARB,downstream_gene_variant,,ENST00000330688,NM_001290266.1,NM_001290277.1,NM_000965.4;RARB,downstream_gene_variant,,ENST00000437042,NM_001290276.1,NM_016152.3;RARB,downstream_gene_variant,,ENST00000458646,NM_001290217.1;RARB,downstream_gene_variant,,ENST00000383772,NM_001290216.1;RARB,downstream_gene_variant,,ENST00000462272,;RARB,downstream_gene_variant,,ENST00000479097,;RARB,downstream_gene_variant,,ENST00000480001,;TOP2B,3_prime_UTR_variant,,ENST00000413971,;	A	ENST00000435706	Transcript	stop_gained	5021/5389	4819/4866	1607/1621	E/*	Gag/Tag		1		-1	TOP2B	HGNC	HGNC:11990	protein_coding	YES	CCDS46776.1	ENSP00000396704	Q02880		UPI000002B59A	NM_001068.3			36/36																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	74	25598354	25598354	C	A	1	0	0	0	0	0	1	0	0	16842	922	32	2		2	TOP2B	3	25598354	Nonsense_Mutation	SNP	C	C3N-01405_TP	25232357	25598354	172697205	108	24055											
CCDC13	0	.	GRCh38	chr3	42752660	42752660	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgccatcaacagccggttcTtttttgatagctccacaatt	9	14	6	12	1	2	1	1	1	1	0	3	1	3	1	3	1	4	2	3	1	3	6	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.428A>G	p.Lys143Arg	p.K143R	ENST00000310232	4/16	256	209	47	232	232	0	strelka-varscan-mutect	CCDC13,missense_variant,p.Lys143Arg,ENST00000310232,NM_144719.3;CCDC13,non_coding_transcript_exon_variant,,ENST00000435327,;CCDC13,non_coding_transcript_exon_variant,,ENST00000492806,;CCDC13,non_coding_transcript_exon_variant,,ENST00000479576,;RP4-613B23.5,downstream_gene_variant,,ENST00000431549,;	C	ENST00000310232	Transcript	missense_variant	512/2943	428/2148	143/715	K/R	aAg/aGg		1		-1	CCDC13	HGNC	HGNC:26358	protein_coding	YES	CCDS2705.1	ENSP00000309836	Q8IYE1		UPI00001AEF4E	NM_144719.3	tolerated(0.37)		4/16		hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	74	42752660	42752660	T	C	1	0	0	0	0	1	0	0	0	2457	1609	56	5		5	CCDC13	3	42752660	Missense_Mutation	SNP	T	C3N-01405_TP	17154306	42752660	155542899	109	24056											
LMOD3	0	.	GRCh38	chr3	69120007	69120007	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcttttcttttaaatactgGgccatatttttattacgttt	9	21	5	6	1	1	0	0	0	1	0	1	0	1	0	1	1	3	2	1	1	6	11	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.348C>A	p.=	p.A116A	ENST00000420581	2/3	127	94	33	129	129	0	strelka-varscan-mutect	LMOD3,synonymous_variant,p.=,ENST00000420581,;LMOD3,synonymous_variant,p.=,ENST00000475434,;LMOD3,synonymous_variant,p.=,ENST00000489031,NM_001304418.1,NM_198271.4;	T	ENST00000420581	Transcript	synonymous_variant	528/4086	348/1683	116/560	A	gcC/gcA		1		-1	LMOD3	HGNC	HGNC:6649	protein_coding	YES	CCDS46862.1	ENSP00000414670	Q0VAK6		UPI00001612AC				2/3		hmmpanther:PTHR10901:SF3,hmmpanther:PTHR10901,Pfam_domain:PF03250																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	74	69120007	69120007	G	T	1	0	0	0	0	0	0	0	1	8785	1219	43	2		2	LMOD3	3	69120007	Silent	SNP	G	C3N-01405_TP	26367347	69120007	129175552	110	24057											
FRG2C	0	.	GRCh38	chr3	75665643	75665643	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccataggggaagttccAgggcttgcactgggcgcagc	8	6	14	13	1	0	0	0	0	0	0	1	1	1	1	3	4	2	4	3	4	2	3	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.451A>T	p.Arg151Trp	p.R151W	ENST00000308062	4/4	394	316	78	305	305	0	strelka-varscan-mutect	FRG2C,missense_variant,p.Arg151Trp,ENST00000308062,NM_001124759.1;FRG2C,missense_variant,p.Arg150Trp,ENST00000464571,;DUX4L26,upstream_gene_variant,,ENST00000489078,;	T	ENST00000308062	Transcript	missense_variant	501/2078	451/849	151/282	R/W	Agg/Tgg		1		1	FRG2C	HGNC	HGNC:33626	protein_coding	YES	CCDS43108.1	ENSP00000312299	A6NGY1		UPI0000160BC9	NM_001124759.1	deleterious(0.01)		4/4		Pfam_domain:PF15315,Prints_domain:PR02074,hmmpanther:PTHR31883,hmmpanther:PTHR31883:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	74	75665643	75665643	A	T	1	0	0	0	0	1	0	0	0	5917	179	7	4		4	FRG2C	3	75665643	Missense_Mutation	SNP	A	C3N-01405_TP	6545636	75665643	122629916	111	24058											
ROBO1	0	.	GRCh38	chr3	78639777	78639777	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtgaggttgctgtcgcTgtttccattgcctgccgtgc	3	14	14	10	2	0	1	0	1	0	0	2	1	1	1	3	2	4	5	3	2	1	4	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.3004A>T	p.Ser1002Cys	p.S1002C	ENST00000464233	22/31	133	106	27	104	103	1	strelka-varscan-mutect	ROBO1,missense_variant,p.Ser882Cys,ENST00000436010,;ROBO1,missense_variant,p.Ser957Cys,ENST00000618833,;ROBO1,missense_variant,p.Ser876Cys,ENST00000618846,;ROBO1,missense_variant,p.Ser1002Cys,ENST00000464233,NM_002941.3;ROBO1,missense_variant,p.Ser957Cys,ENST00000495273,NM_133631.3;ROBO1,missense_variant,p.Ser957Cys,ENST00000467549,NM_001145845.1;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;	A	ENST00000464233	Transcript	missense_variant	3118/6742	3004/4956	1002/1651	S/C	Agc/Tgc		1		-1	ROBO1	HGNC	HGNC:10249	protein_coding	YES	CCDS54611.1	ENSP00000420321	Q9Y6N7		UPI00000713D9	NM_002941.3	deleterious(0.01)		22/31		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF107																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	74	78639777	78639777	T	A	1	0	0	0	0	1	0	0	0	13691	1580	55	4		4	ROBO1	3	78639777	Missense_Mutation	SNP	T	C3N-01405_TP	2974134	78639777	119655782	112	24059											
OR5AC2	0	.	GRCh38	chr3	98087369	98087369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccatgtacttattccttgGtggtttagccttttcagatg	6	17	9	9	0	1	1	1	0	0	1	2	1	2	1	3	2	2	2	3	2	3	8	rs145997815		C3N-01405_TP	C3N-01405_NB	G	G																c.197G>T	p.Gly66Val	p.G66V	ENST00000358642	1/1	163	127	36	106	106	0	strelka-varscan-mutect	OR5AC2,missense_variant,p.Gly66Val,ENST00000358642,NM_054106.1;	T	ENST00000358642	Transcript	missense_variant	197/930	197/930	66/309	G/V	gGt/gTt	rs145997815	1		1	OR5AC2	HGNC	HGNC:15431	protein_coding	YES	CCDS33796.1	ENSP00000351466	Q9NZP5		UPI0000441EFD	NM_054106.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF96,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs145997815	.												T	3	4	74	98087369	98087369	G	T	1	0	0	0	0	1	0	0	0	11213	1261	44	2		2	OR5AC2	3	98087369	Missense_Mutation	SNP	G	C3N-01405_TP	19447592	98087369	100208190	113	24060											
SIDT1	0	.	GRCh38	chr3	113616118	113616118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatttgggaattttccggcGggctgccatggtgttctaca	7	13	13	8	2	1	1	0	0	1	1	2	2	2	2	2	4	2	2	2	4	2	5	rs376051655		C3N-01405_TP	C3N-01405_NB	G	G																c.2000G>T	p.Arg667Leu	p.R667L	ENST00000393830	21/26	345	282	63	282	282	0	strelka-varscan-mutect	SIDT1,missense_variant,p.Arg662Leu,ENST00000264852,NM_001322294.1,NM_001322299.1,NM_017699.2;SIDT1,missense_variant,p.Arg667Leu,ENST00000393830,NM_001308350.1;SIDT1,non_coding_transcript_exon_variant,,ENST00000463226,;SIDT1,non_coding_transcript_exon_variant,,ENST00000481891,;	T	ENST00000393830	Transcript	missense_variant	2039/2572	2000/2499	667/832	R/L	cGg/cTg	rs376051655	1		1	SIDT1	HGNC	HGNC:25967	protein_coding	YES	CCDS77790.1	ENSP00000377416	Q9NXL6		UPI0000DA58D9	NM_001308350.1	deleterious(0.02)		21/26		Pfam_domain:PF13965,hmmpanther:PTHR12185,hmmpanther:PTHR12185:SF15																	MODERATE	1	SNV	1			1										PASS		rs376051655	.												T	3	4	74	113616118	113616118	G	T	1	0	0	0	0	1	0	0	0	14566	1116	39	1		1	SIDT1	3	113616118	Missense_Mutation	SNP	G	C3N-01405_TP	15528749	113616118	84679441	114	24061											
ALDH1L1	0	.	GRCh38	chr3	126110109	126110109	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcttccgcacctcttctaCctgcagaaagtcctccaagt	9	11	5	16	1	3	1	0	0	3	1	6	1	6	1	5	0	2	2	5	0	3	3	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.2212G>T	p.Val738Leu	p.V738L	ENST00000273450	20/23	109	99	10	75	75	0	strelka-varscan-mutect	ALDH1L1,missense_variant,p.Val728Leu,ENST00000393434,NM_012190.3;ALDH1L1,missense_variant,p.Val738Leu,ENST00000273450,NM_001270364.1;ALDH1L1,missense_variant,p.Val728Leu,ENST00000472186,;ALDH1L1,missense_variant,p.Val627Leu,ENST00000452905,NM_001270365.1;ALDH1L1,splice_region_variant,,ENST00000455064,;ALDH1L1,splice_region_variant,,ENST00000393431,;ALDH1L1-AS1,downstream_gene_variant,,ENST00000512384,;ALDH1L1,splice_region_variant,,ENST00000467370,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000462808,;	A	ENST00000273450	Transcript	missense_variant,splice_region_variant	2430/3179	2212/2739	738/912	V/L	Gta/Tta		1		-1	ALDH1L1	HGNC	HGNC:3978	protein_coding	YES	CCDS58851.1	ENSP00000273450	O75891		UPI0000425C57	NM_001270364.1	tolerated(0.07)		20/23		Gene3D:3.40.309.10,Pfam_domain:PF00171,PIRSF_domain:PIRSF036489,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF120,Low_complexity_(Seg):seg,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	126110109	126110109	C	A	1	0	0	0	0	1	0	0	0	594	521	18	2		2	ALDH1L1	3	126110109	Missense_Mutation	SNP	C	C3N-01405_TP	12493991	126110109	72185450	115	24062											
COL6A5	0	.	GRCh38	chr3	130422756	130422756	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaattcctgggggacctGgacccaaaggatttagggga	10	8	15	8	0	0	0	0	0	0	0	1	5	1	5	3	7	0	0	3	7	3	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.5074G>T	p.Gly1692Ter	p.G1692*	ENST00000265379	28/43	167	140	27	147	147	0	strelka-varscan-mutect	COL6A5,stop_gained,p.Gly1692Ter,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,stop_gained,p.Gly1692Ter,ENST00000312481,;	T	ENST00000265379	Transcript	stop_gained	5568/9214	5074/7836	1692/2611	G/*	Gga/Tga		1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1			28/43		Low_complexity_(Seg):seg,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF133																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	74	130422756	130422756	G	T	1	0	0	0	0	0	1	0	0	3491	1349	47	2		2	COL6A5	3	130422756	Nonsense_Mutation	SNP	G	C3N-01405_TP	4312647	130422756	67872803	116	24063											
BFSP2	0	.	GRCh38	chr3	133472482	133472482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggagcagcagcaacaggaGcgcgcgcatctgctggcccg	8	3	16	14	5	1	0	0	0	1	0	1	2	1	2	1	3	6	5	1	3	1	0	rs747506203		C3N-01405_TP	C3N-01405_NB	G	G																c.1161G>T	p.Glu387Asp	p.E387D	ENST00000302334	6/7	471	377	94	332	332	0	strelka-varscan-mutect	BFSP2,missense_variant,p.Glu387Asp,ENST00000302334,NM_003571.3;BFSP2,non_coding_transcript_exon_variant,,ENST00000511434,;BFSP2,non_coding_transcript_exon_variant,,ENST00000510039,;BFSP2,non_coding_transcript_exon_variant,,ENST00000503047,;	T	ENST00000302334	Transcript	missense_variant	1250/1558	1161/1248	387/415	E/D	gaG/gaT	rs747506203	1		1	BFSP2	HGNC	HGNC:1041	protein_coding	YES	CCDS33859.1	ENSP00000304987	Q13515		UPI00001268CA	NM_003571.3	tolerated(0.98)		6/7		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF32,Gene3D:1.20.5.170,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF64593																	MODERATE	1	SNV	1			1										PASS		rs747506203	.												T	3	4	74	133472482	133472482	G	T	1	0	0	0	0	1	0	0	0	1564	962	34	2		2	BFSP2	3	133472482	Missense_Mutation	SNP	G	C3N-01405_TP	3049726	133472482	64823077	117	24064											
CHST2	0	.	GRCh38	chr3	143121553	143121553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggggcgcaacctcaccaCgctgggcatcttcggcgcag	6	5	15	15	5	2	0	1	0	1	0	3	0	2	0	2	5	1	4	2	5	1	1			C3N-01405_TP	C3N-01405_NB	C	C																c.737C>T	p.Thr246Met	p.T246M	ENST00000309575	2/2	95	78	17	56	56	0	strelka-varscan-mutect	CHST2,missense_variant,p.Thr246Met,ENST00000309575,NM_004267.4;RP11-80H8.4,upstream_gene_variant,,ENST00000483262,;	T	ENST00000309575	Transcript	missense_variant	2121/4582	737/1593	246/530	T/M	aCg/aTg	COSM4672339	1		1	CHST2	HGNC	HGNC:1970	protein_coding	YES	CCDS3129.1	ENSP00000307911	Q9Y4C5	V9HVX9	UPI0000073CBC	NM_004267.4	deleterious(0.01)		2/2		Pfam_domain:PF00685,PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF3											1						MODERATE	1	SNV	1		1	1										PASS		rs1352238913	.												T	3	4	74	143121553	143121553	C	T	1	0	0	0	0	1	0	0	0	3164	536	19	1		1	CHST2	3	143121553	Missense_Mutation	SNP	C	C3N-01405_TP	9649071	143121553	55174006	118	24065											
MED12L	0	.	GRCh38	chr3	151430344	151430344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagcagcagcagcagacgGccgccttggtgcggcagctc	7	4	14	16	3	0	1	0	0	0	1	1	1	0	1	3	3	6	6	3	3	0	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.6349G>T	p.Ala2117Ser	p.A2117S	ENST00000474524	42/43	164	137	27	127	127	0	strelka-varscan-mutect	MED12L,missense_variant,p.Ala2117Ser,ENST00000474524,NM_053002.5;MED12L,missense_variant,p.Ala1781Ser,ENST00000273432,;IGSF10,intron_variant,,ENST00000489791,;IGSF10,downstream_gene_variant,,ENST00000282466,NM_178822.4;MED12L,downstream_gene_variant,,ENST00000488092,;IGSF10,downstream_gene_variant,,ENST00000497472,;	T	ENST00000474524	Transcript	missense_variant	6387/10744	6349/6438	2117/2145	A/S	Gcc/Tcc		1		1	MED12L	HGNC	HGNC:16050	protein_coding	YES	CCDS33876.1	ENSP00000417235	Q86YW9		UPI000020A46B	NM_053002.5	deleterious_low_confidence(0)		42/43		Low_complexity_(Seg):seg,hmmpanther:PTHR13992:SF22,hmmpanther:PTHR13992																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	151430344	151430344	G	T	1	0	0	0	0	1	0	0	0	9368	1203	42	2		2	MED12L	3	151430344	Missense_Mutation	SNP	G	C3N-01405_TP	8308791	151430344	46865215	119	24066											
RSRC1	0	.	GRCh38	chr3	158354886	158354886	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacaggccaaagccagactAcagctggttcttgaagctgc	12	7	11	11	0	1	2	0	1	1	1	1	3	1	2	2	2	6	3	2	2	4	3			C3N-01405_TP	C3N-01405_NB	A	A																c.561A>G	p.=	p.L187L	ENST00000611884	6/10	96	72	24	66	66	0	strelka-varscan-mutect	RSRC1,synonymous_variant,p.=,ENST00000464171,;RSRC1,synonymous_variant,p.=,ENST00000611884,NM_001271838.1;RSRC1,synonymous_variant,p.=,ENST00000295930,NM_016625.3;RSRC1,synonymous_variant,p.=,ENST00000312179,NM_001271834.1;RSRC1,synonymous_variant,p.=,ENST00000480820,;RSRC1,synonymous_variant,p.=,ENST00000475278,;RSRC1,synonymous_variant,p.=,ENST00000482822,;RSRC1,synonymous_variant,p.=,ENST00000476899,;RSRC1,synonymous_variant,p.=,ENST00000471994,;RSRC1,non_coding_transcript_exon_variant,,ENST00000471911,;RSRC1,3_prime_UTR_variant,,ENST00000480119,;RSRC1,3_prime_UTR_variant,,ENST00000477788,;	G	ENST00000611884	Transcript	synonymous_variant	735/1738	561/1005	187/334	L	ctA/ctG	COSM1536876	1		1	RSRC1	HGNC	HGNC:24152	protein_coding	YES	CCDS3181.1	ENSP00000481697	Q96IZ7		UPI000006EB23	NM_001271838.1			6/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31968,hmmpanther:PTHR31968:SF3											1						LOW	1	SNV	5		1	1										PASS		.	.												G	2	3	74	158354886	158354886	A	G	1	0	0	0	0	0	0	0	1	13972	378	14	5		5	RSRC1	3	158354886	Silent	SNP	A	C3N-01405_TP	6924542	158354886	39940673	120	24067											
SI	0	.	GRCh38	chr3	164992362	164992362	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggaccccataagaactgcTtgaatatatcccaggttggt	11	11	9	10	0	0	2	0	1	0	1	1	3	1	3	3	3	2	2	3	3	5	5	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.4877A>T	p.Lys1626Met	p.K1626M	ENST00000264382	42/48	287	223	64	232	232	0	strelka-varscan-mutect	SI,missense_variant,p.Lys1626Met,ENST00000264382,NM_001041.3;	A	ENST00000264382	Transcript	missense_variant	4940/6011	4877/5484	1626/1827	K/M	aAg/aTg		1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	deleterious(0.01)		42/48		Pfam_domain:PF01055,Superfamily_domains:SSF51011																	MODERATE	1	SNV	1			1										PASS		rs1305513594	.												A	3	1	74	164992362	164992362	T	A	1	0	0	0	0	1	0	0	0	14561	1609	56	4		4	SI	3	164992362	Missense_Mutation	SNP	T	C3N-01405_TP	6637476	164992362	33303197	121	24068											
BCHE	0	.	GRCh38	chr3	165829680	165829680	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacggaagtttggaggatcGgtgttcaaaatagtagaaaa	15	9	12	5	2	1	1	1	0	0	1	2	4	1	4	1	4	0	3	1	4	7	4	rs530517316		C3N-01405_TP	C3N-01405_NB	G	G																c.1354C>A	p.=	p.R452R	ENST00000264381	2/4	295	237	58	235	235	0	strelka-varscan-mutect	BCHE,synonymous_variant,p.=,ENST00000264381,NM_000055.2;BCHE,intron_variant,,ENST00000488954,;BCHE,intron_variant,,ENST00000479451,;BCHE,synonymous_variant,p.=,ENST00000482958,;BCHE,synonymous_variant,p.=,ENST00000497011,;	T	ENST00000264381	Transcript	synonymous_variant	1521/2454	1354/1809	452/602	R	Cga/Aga	rs530517316,CM034211,COSM1040847	1		-1	BCHE	HGNC	HGNC:983	protein_coding	YES	CCDS3198.1	ENSP00000264381	P06276		UPI0000127866	NM_000055.2			2/4		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF215,Superfamily_domains:SSF53474											0,0,1						LOW	1	SNV	1		0,1,1	1										PASS		rs530517316	.												T	2	4	74	165829680	165829680	G	T	1	0	0	0	0	0	0	0	1	1505	1124	39	1		1	BCHE	3	165829680	Silent	SNP	G	C3N-01405_TP	837318	165829680	32465879	122	24069											
YEATS2	0	.	GRCh38	chr3	183803989	183803989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaaattttttttttaagtgGcaaagagcaatgacaatgcg	15	13	9	4	1	0	2	0	1	0	1	0	3	0	2	0	1	2	2	0	1	6	5	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.3585G>T	p.Trp1195Cys	p.W1195C	ENST00000305135	27/31	189	178	11	128	127	1	varscan-mutect	YEATS2,missense_variant,p.Trp1195Cys,ENST00000305135,NM_018023.4;YEATS2-AS1,downstream_gene_variant,,ENST00000425008,;YEATS2-AS1,downstream_gene_variant,,ENST00000609195,;YEATS2-AS1,downstream_gene_variant,,ENST00000625709,;YEATS2-AS1,downstream_gene_variant,,ENST00000609871,;YEATS2,non_coding_transcript_exon_variant,,ENST00000472593,;YEATS2,upstream_gene_variant,,ENST00000468850,;YEATS2,downstream_gene_variant,,ENST00000497765,;YEATS2,upstream_gene_variant,,ENST00000481343,;	T	ENST00000305135	Transcript	missense_variant,splice_region_variant	3780/6506	3585/4269	1195/1422	W/C	tgG/tgT		1		1	YEATS2	HGNC	HGNC:25489	protein_coding	YES	CCDS43175.1	ENSP00000306983	Q9ULM3		UPI00001BB2B9	NM_018023.4	deleterious(0)		27/31																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	183803989	183803989	G	T	1	0	0	0	0	1	0	0	0	18034	1217	42	2		2	YEATS2	3	183803989	Missense_Mutation	SNP	G	C3N-01405_TP	17974309	183803989	14491570	123	24070											
DGKG	0	.	GRCh38	chr3	186298078	186298078	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacctgcgctgttggccTcactgttgctggctccctcc	2	13	11	15	1	1	0	1	0	0	0	3	0	3	0	4	2	3	6	4	2	1	3	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.296A>C	p.Glu99Ala	p.E99A	ENST00000265022	4/25	110	87	23	79	79	0	strelka-varscan-mutect	DGKG,missense_variant,p.Glu99Ala,ENST00000265022,NM_001346.2;DGKG,missense_variant,p.Glu99Ala,ENST00000344484,NM_001080744.1;DGKG,missense_variant,p.Glu99Ala,ENST00000382164,NM_001080745.1;DGKG,non_coding_transcript_exon_variant,,ENST00000480809,;	G	ENST00000265022	Transcript	missense_variant	836/5805	296/2376	99/791	E/A	gAg/gCg		1		-1	DGKG	HGNC	HGNC:2853	protein_coding	YES	CCDS3274.1	ENSP00000265022	P49619		UPI000013D5AB	NM_001346.2	tolerated(0.3)		4/25		hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF36,Pfam_domain:PF14513																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	186298078	186298078	T	G	1	0	0	0	0	1	0	0	0	4275	1551	54	5		5	DGKG	3	186298078	Missense_Mutation	SNP	T	C3N-01405_TP	2494089	186298078	11997481	124	24071											
MB21D2	0	.	GRCh38	chr3	192798893	192798893	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taggggctaatagccttgggCcgggacagcagtttaatgat	10	10	14	7	1	0	1	0	1	0	0	0	2	0	2	2	4	2	3	2	4	4	6	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.969G>T	p.=	p.R323R	ENST00000392452	2/2	133	92	41	77	77	0	strelka-varscan-mutect	MB21D2,synonymous_variant,p.=,ENST00000392452,NM_178496.3;	A	ENST00000392452	Transcript	synonymous_variant	1290/3368	969/1476	323/491	R	cgG/cgT		1		-1	MB21D2	HGNC	HGNC:30438	protein_coding	YES	CCDS3302.2	ENSP00000376246	Q8IYB1		UPI000013FAFE	NM_178496.3			2/2		hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF47,Pfam_domain:PF03281,SMART_domains:SM01265																	LOW	1	SNV	1			1										PASS		rs1227976692	.												A	2	1	74	192798893	192798893	C	A	1	0	0	0	0	0	0	0	1	9270	726	26	2		2	MB21D2	3	192798893	Silent	SNP	C	C3N-01405_TP	6500815	192798893	5496666	125	24072											
MELTF	0	.	GRCh38	chr3	197021465	197021465	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcccctgccccttccgcCaggcacctgcggaggagaag	7	5	12	17	3	0	1	0	0	0	1	2	3	2	2	7	3	2	1	7	3	1	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.651G>T	p.=	p.L217L	ENST00000296350	6/16	264	201	63	187	187	0	strelka-varscan-mutect	MELTF,synonymous_variant,p.=,ENST00000296350,NM_005929.5;MELTF,synonymous_variant,p.=,ENST00000296351,NM_033316.3;MELTF,downstream_gene_variant,,ENST00000439320,;MELTF,non_coding_transcript_exon_variant,,ENST00000489445,;MELTF,downstream_gene_variant,,ENST00000473501,;MELTF,downstream_gene_variant,,ENST00000491399,;	A	ENST00000296350	Transcript	synonymous_variant	765/3963	651/2217	217/738	L	ctG/ctT		1		-1	MELTF	HGNC	HGNC:7037	protein_coding	YES	CCDS3325.1	ENSP00000296350	P08582		UPI000013E329	NM_005929.5			6/16		Gene3D:3.40.190.10,Pfam_domain:PF00405,PIRSF_domain:PIRSF002549,Prints_domain:PR00422,PROSITE_patterns:PS00206,PROSITE_profiles:PS51408,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF21,SMART_domains:SM00094,Superfamily_domains:SSF53850																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	197021465	197021465	C	A	1	0	0	0	0	0	0	0	1	9415	581	21	2		2	MELTF	3	197021465	Silent	SNP	C	C3N-01405_TP	4222572	197021465	1274094	126	24073											
PDE6B	0	.	GRCh38	chr4	625650	625650	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctcagtgaggagcaggcCcggagctttctggaccagaa	10	6	14	11	1	2	2	1	1	1	1	2	5	2	5	3	4	3	2	3	4	1	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.24C>A	p.=	p.A8A	ENST00000496514	1/22	260	227	33	181	181	0	strelka-varscan-mutect	PDE6B,synonymous_variant,p.=,ENST00000255622,NM_001145291.1;PDE6B,synonymous_variant,p.=,ENST00000496514,NM_000283.3;	A	ENST00000496514	Transcript	synonymous_variant	45/3232	24/2565	8/854	A	gcC/gcA		1		1	PDE6B	HGNC	HGNC:8786	protein_coding	YES	CCDS33932.1	ENSP00000420295	P35913		UPI0000DBEE72	NM_000283.3			1/22		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF73																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	625650	625650	C	A	1	0	0	0	0	0	0	0	1	11734	610	22	2		2	PDE6B	4	625650	Silent	SNP	C	C3N-01405_TP		625650	189588905	127	24074											
LETM1	0	.	GRCh38	chr4	1834847	1834847	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagacgtatcacagcacctTctggaaaaacacagagaagt	16	7	8	10	1	3	2	2	0	1	2	3	4	3	3	1	1	2	2	1	1	4	2	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.874A>T	p.Lys292Ter	p.K292*	ENST00000302787	5/14	150	132	18	108	107	1	strelka-varscan-mutect	LETM1,stop_gained,p.Lys292Ter,ENST00000302787,NM_012318.2;LETM1,non_coding_transcript_exon_variant,,ENST00000505551,;LETM1,non_coding_transcript_exon_variant,,ENST00000466175,;LETM1,non_coding_transcript_exon_variant,,ENST00000512669,;LETM1,upstream_gene_variant,,ENST00000511977,;	A	ENST00000302787	Transcript	stop_gained,splice_region_variant	1171/5462	874/2220	292/739	K/*	Aag/Tag		1		-1	LETM1	HGNC	HGNC:6556	protein_coding	YES	CCDS3355.1	ENSP00000305653	O95202		UPI0000073989	NM_012318.2			5/14		PROSITE_profiles:PS51758,hmmpanther:PTHR14009:SF8,hmmpanther:PTHR14009,Pfam_domain:PF07766																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	74	1834847	1834847	T	A	1	0	0	0	0	0	1	0	0	8639	1797	62	4		4	LETM1	4	1834847	Nonsense_Mutation	SNP	T	C3N-01405_TP	1209197	1834847	188379708	128	24075											
RGS12	0	.	GRCh38	chr4	3430603	3430603	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacggccgggagagcgcCtcccagcctggcgagcagtg	7	3	17	14	4	0	1	0	0	0	1	1	3	1	1	4	4	4	2	4	4	1	0	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.3762C>G	p.=	p.A1254A	ENST00000344733	17/18	104	94	10	75	75	0	strelka-varscan-mutect	RGS12,synonymous_variant,p.=,ENST00000382788,NM_002926.3;RGS12,synonymous_variant,p.=,ENST00000344733,NM_198229.2;RGS12,synonymous_variant,p.=,ENST00000336727,;RGS12,synonymous_variant,p.=,ENST00000338806,NM_198227.1;RGS12,intron_variant,,ENST00000509772,;RGS12,downstream_gene_variant,,ENST00000508158,;RGS12,downstream_gene_variant,,ENST00000515521,;RGS12,downstream_gene_variant,,ENST00000507246,;RGS12,non_coding_transcript_exon_variant,,ENST00000504194,;RGS12,downstream_gene_variant,,ENST00000513991,;RGS12,downstream_gene_variant,,ENST00000507041,;	G	ENST00000344733	Transcript	synonymous_variant	4666/5469	3762/4344	1254/1447	A	gcC/gcG		1		1	RGS12	HGNC	HGNC:9994	protein_coding	YES	CCDS3366.1	ENSP00000339381	O14924		UPI0000133830	NM_198229.2			17/18		Pfam_domain:PF16612																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	74	3430603	3430603	C	G	1	0	0	0	0	0	0	0	1	13466	668	24	4		4	RGS12	4	3430603	Silent	SNP	C	C3N-01405_TP	1595756	3430603	186783952	129	24076											
C4orf50	0	.	GRCh38	chr4	5980246	5980246	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcagcgccctggtccctGagctggcactgcagggtcag	5	7	16	13	1	1	1	1	1	0	0	2	1	2	1	2	4	3	4	2	4	0	0	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.3792C>G	p.=	p.L1264L	ENST00000531445	7/12	144	126	18	90	90	0	strelka-varscan-mutect	C4orf50,synonymous_variant,p.=,ENST00000531445,;C4orf50,synonymous_variant,p.=,ENST00000324058,;	C	ENST00000531445	Transcript	synonymous_variant	3868/6860	3792/4527	1264/1508	L	ctC/ctG		1		-1	C4orf50	HGNC	HGNC:33766	protein_coding	YES		ENSP00000437121		E9PNW5					7/12		hmmpanther:PTHR36866,Pfam_domain:PF15030																	LOW	1	SNV	1			1										PASS		rs1410848481	.												C	2	2	74	5980246	5980246	G	C	1	0	0	0	0	0	0	0	1	2089	1277	45	4		4	C4orf50	4	5980246	Silent	SNP	G	C3N-01405_TP	2549643	5980246	184234309	130	24077											
CPZ	0	.	GRCh38	chr4	8606736	8606736	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggttggccatgttttcaGggtgccggctacaacgggtg	5	10	18	8	2	1	0	1	0	0	0	1	0	1	0	2	6	3	3	2	6	2	4			C3N-01405_TP	C3N-01405_NB	G	G																c.907-1G>T		p.X303_splice	ENST00000360986		144	105	39	103	103	0	strelka-varscan-mutect	CPZ,splice_acceptor_variant,,ENST00000382480,NM_001014448.2;CPZ,splice_acceptor_variant,,ENST00000360986,NM_001014447.2;CPZ,splice_acceptor_variant,,ENST00000315782,NM_003652.3;GPR78,splice_acceptor_variant,,ENST00000514302,;GPR78,splice_acceptor_variant,,ENST00000513120,;CPZ,splice_acceptor_variant,,ENST00000515606,;	T	ENST00000360986	Transcript	splice_acceptor_variant	-/2267	907/1959	303/652			COSM5351129	1		1	CPZ	HGNC	HGNC:2333	protein_coding	YES	CCDS33953.1	ENSP00000354255	Q66K79		UPI000020BCC5	NM_001014447.2				5/10												1						HIGH	1	SNV	1		1	1										PASS		.	.												T	5	4	74	8606736	8606736	G	T	1	0	0	0	0	0	0	1	0	3637	1014	35	2		2	CPZ	4	8606736	Splice_Site	SNP	G	C3N-01405_TP	2626490	8606736	181607819	131	24078											
FAM184B	0	.	GRCh38	chr4	17639291	17639291	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggcctggagctgggcctgGgcactactgaaatctgccac	7	7	14	13	1	1	1	0	1	1	0	1	2	1	2	3	4	3	2	3	4	2	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.2625C>T	p.=	p.A875A	ENST00000265018	14/18	254	173	81	190	190	0	strelka-varscan-mutect	FAM184B,synonymous_variant,p.=,ENST00000265018,NM_015688.1;	A	ENST00000265018	Transcript	synonymous_variant	2838/6622	2625/3183	875/1060	A	gcC/gcT		1		-1	FAM184B	HGNC	HGNC:29235	protein_coding	YES	CCDS47033.1	ENSP00000265018	Q9ULE4		UPI000020BD7C	NM_015688.1			14/18		Low_complexity_(Seg):seg,hmmpanther:PTHR18870:SF8,hmmpanther:PTHR18870,Coiled-coils_(Ncoils):Coil																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	17639291	17639291	G	A	1	0	0	0	0	0	0	0	1	5359	1219	43	3		3	FAM184B	4	17639291	Silent	SNP	G	C3N-01405_TP	9032555	17639291	172575264	132	24079											
SLIT2	0	.	GRCh38	chr4	20618901	20618901	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagggcagtgctgtggaccGctgaggagcaagcggcggaa	9	4	20	8	3	0	1	0	1	0	0	0	5	0	5	1	6	3	4	1	6	2	0	rs763687239		C3N-01405_TP	C3N-01405_NB	G	G																c.4482G>T	p.=	p.P1494P	ENST00000504154	37/37	247	226	21	172	172	0	strelka-varscan-mutect	SLIT2,synonymous_variant,p.=,ENST00000504154,NM_004787.2;SLIT2,synonymous_variant,p.=,ENST00000622093,;SLIT2,synonymous_variant,p.=,ENST00000503823,NM_001289136.1;SLIT2,synonymous_variant,p.=,ENST00000273739,;SLIT2,synonymous_variant,p.=,ENST00000503837,NM_001289135.1;SLIT2,intron_variant,,ENST00000512993,;SLIT2,non_coding_transcript_exon_variant,,ENST00000508541,;	T	ENST00000504154	Transcript	synonymous_variant	4734/6390	4482/4590	1494/1529	P	ccG/ccT	rs763687239,COSM1054495,COSM5278158	1		1	SLIT2	HGNC	HGNC:11086	protein_coding	YES	CCDS3426.1	ENSP00000422591	O94813		UPI00000747E4	NM_004787.2			37/37		PROSITE_profiles:PS01225,PROSITE_patterns:PS01185,SMART_domains:SM00041											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs763687239	.												T	2	4	74	20618901	20618901	G	T	1	0	0	0	0	0	0	0	1	15031	1074	38	1		1	SLIT2	4	20618901	Silent	SNP	G	C3N-01405_TP	2979610	20618901	169595654	133	24080											
LIMCH1	0	.	GRCh38	chr4	41646630	41646630	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgccaaaaattctggaaAgaagccattcaacagagcca	18	6	8	9	0	2	3	1	0	1	3	2	4	2	4	3	1	4	0	3	1	5	2	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.1402A>T	p.Arg468Ter	p.R468*	ENST00000313860	12/27	366	258	108	260	260	0	strelka-varscan-mutect	LIMCH1,stop_gained,p.Arg468Ter,ENST00000313860,NM_014988.3;LIMCH1,stop_gained,p.Arg314Ter,ENST00000396595,NM_001112719.2;LIMCH1,stop_gained,p.Arg302Ter,ENST00000381753,NM_001112720.2;LIMCH1,stop_gained,p.Arg853Ter,ENST00000503057,;LIMCH1,stop_gained,p.Arg297Ter,ENST00000513024,NM_001289124.1;LIMCH1,stop_gained,p.Arg456Ter,ENST00000512820,NM_001289122.1;LIMCH1,stop_gained,p.Arg468Ter,ENST00000512946,NM_001112717.2;LIMCH1,stop_gained,p.Arg468Ter,ENST00000508501,NM_001112718.2;LIMCH1,stop_gained,p.Arg468Ter,ENST00000512632,;LIMCH1,stop_gained,p.Arg309Ter,ENST00000514096,;LIMCH1,stop_gained,p.Arg302Ter,ENST00000509277,;LIMCH1,stop_gained,p.Arg309Ter,ENST00000511496,;LIMCH1,stop_gained,p.Arg303Ter,ENST00000508466,;	T	ENST00000313860	Transcript	stop_gained	1456/6165	1402/3252	468/1083	R/*	Aga/Tga		1		1	LIMCH1	HGNC	HGNC:29191	protein_coding	YES	CCDS33977.1	ENSP00000316891	Q9UPQ0		UPI0000D61554	NM_014988.3			12/27		hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF3																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	74	41646630	41646630	A	T	1	0	0	0	0	0	1	0	0	8705	64	3	4		4	LIMCH1	4	41646630	Nonsense_Mutation	SNP	A	C3N-01405_TP	21027729	41646630	148567925	134	24081											
GRXCR1	0	.	GRCh38	chr4	42963133	42963133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cattgatggccattaccttgGggtaagtaagctgcccagga	10	10	12	9	0	0	1	0	1	0	0	0	2	0	2	3	4	3	3	3	4	3	5	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.626G>T	p.Gly209Val	p.G209V	ENST00000399770	2/4	298	275	23	195	194	1	strelka-varscan-mutect	GRXCR1,missense_variant,p.Gly209Val,ENST00000399770,NM_001080476.2;	T	ENST00000399770	Transcript	missense_variant,splice_region_variant	626/991	626/873	209/290	G/V	gGg/gTg		1		1	GRXCR1	HGNC	HGNC:31673	protein_coding	YES	CCDS43225.1	ENSP00000382670	A8MXD5		UPI00004191A5	NM_001080476.2	deleterious(0)		2/4		PROSITE_profiles:PS51354,hmmpanther:PTHR10168:SF65,hmmpanther:PTHR10168,Gene3D:3.40.30.10,Superfamily_domains:SSF52833																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	74	42963133	42963133	G	T	1	0	0	0	0	1	0	0	0	6694	1246	43	2		2	GRXCR1	4	42963133	Missense_Mutation	SNP	G	C3N-01405_TP	1316503	42963133	147251422	135	24082											
ATP10D	0	.	GRCh38	chr4	47591316	47591316	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgtgtgaaactgctttaGatcaaggctactctgaaact	11	13	8	9	0	3	3	1	2	2	1	3	3	3	3	0	1	4	2	0	1	5	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.4216G>C	p.Asp1406His	p.D1406H	ENST00000273859	23/23	188	158	30	116	116	0	strelka-varscan-mutect	ATP10D,missense_variant,p.Asp1406His,ENST00000273859,NM_020453.3;CORIN,downstream_gene_variant,,ENST00000273857,NM_006587.3;CORIN,downstream_gene_variant,,ENST00000610355,NM_001278585.1;CORIN,downstream_gene_variant,,ENST00000508498,;CORIN,downstream_gene_variant,,ENST00000502252,;CORIN,downstream_gene_variant,,ENST00000505909,;ATP10D,downstream_gene_variant,,ENST00000505476,;ATP10D,downstream_gene_variant,,ENST00000505277,;ATP10D,3_prime_UTR_variant,,ENST00000503288,;	C	ENST00000273859	Transcript	missense_variant	4485/6655	4216/4281	1406/1426	D/H	Gat/Cat		1		1	ATP10D	HGNC	HGNC:13549	protein_coding	YES	CCDS3476.1	ENSP00000273859	Q9P241		UPI00001AE9B7	NM_020453.3	deleterious_low_confidence(0)		23/23																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	74	47591316	47591316	G	C	1	0	0	0	0	1	0	0	0	1270	942	33	4		4	ATP10D	4	47591316	Missense_Mutation	SNP	G	C3N-01405_TP	4628183	47591316	142623239	136	24083											
KDR	0	.	GRCh38	chr4	55096254	55096254	+	Frame_Shift_Del	DEL	A	A	-																															ggcttggtacaggcacctagAaggttgaccacattgagatg																								novel		C3N-01405_TP	C3N-01405_NB	A	A																c.2703delT	p.Leu902Ter	p.L902*	ENST00000263923	19/30	382	313	69	213	213	0	sindel-varindel	KDR,frameshift_variant,p.Leu902Ter,ENST00000263923,NM_002253.2;RP11-530I17.1,downstream_gene_variant,,ENST00000511222,;KDR,non_coding_transcript_exon_variant,,ENST00000509309,;	-	ENST00000263923	Transcript	frameshift_variant	2999/5831	2703/4071	901/1356	L/X	ctT/ct		1		-1	KDR	HGNC	HGNC:6307	protein_coding	YES	CCDS3497.1	ENSP00000263923	P35968	A0A024RD88	UPI000003AE04	NM_002253.2			19/30		Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_patterns:PS00240,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,SMART_domains:SM00219,Superfamily_domains:SSF56112																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	74	55096254	55096254	A	-	1	0	1	0	1	0	0	0	0	8059	233	9	0		0	KDR	4	55096254	Frame_Shift_Del	DEL	A	C3N-01405_TP	7504938	55096254	135118301	137	24084	507	2									
KDR	0	.	GRCh38	chr4	55096257	55096257	+	Missense_Mutation	SNP	G	G	T																															ttggtacaggcacctagaagGttgaccacattgagatggtg																								novel		C3N-01405_TP	C3N-01405_NB	G	G																c.2700C>A	p.Asn900Lys	p.N900K	ENST00000263923	19/30	427	349	78	223	223	0	strelka-varscan	KDR,missense_variant,p.Asn900Lys,ENST00000263923,NM_002253.2;RP11-530I17.1,downstream_gene_variant,,ENST00000511222,;KDR,non_coding_transcript_exon_variant,,ENST00000509309,;	T	ENST00000263923	Transcript	missense_variant	2996/5831	2700/4071	900/1356	N/K	aaC/aaA		1		-1	KDR	HGNC	HGNC:6307	protein_coding	YES	CCDS3497.1	ENSP00000263923	P35968	A0A024RD88	UPI000003AE04	NM_002253.2	deleterious(0)		19/30		Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_patterns:PS00240,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	55096257	55096257	G	T	1	0	0	0	0	1	0	0	0	8059	1252	44	2		2	KDR	4	55096257	Missense_Mutation	SNP	G	C3N-01405_TP	3	55096257	135118298	138	24085	507	2									
EPHA5	0	.	GRCh38	chr4	65490536	65490536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggccgctttgccggggaaGgtacctgacatgaccgccac	8	6	13	14	3	0	2	0	2	0	0	0	3	0	3	5	4	2	2	5	4	2	2	rs746506231		C3N-01405_TP	C3N-01405_NB	G	G																c.1243C>A	p.Leu415Ile	p.L415I	ENST00000622150	5/18	489	330	159	355	355	0	strelka-varscan	EPHA5,missense_variant,p.Leu415Ile,ENST00000622150,NM_001281765.1;EPHA5,missense_variant,p.Leu415Ile,ENST00000613740,NM_001281766.1;EPHA5,missense_variant,p.Leu415Ile,ENST00000273854,NM_004439.6;EPHA5,missense_variant,p.Leu415Ile,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Leu415Ile,ENST00000354839,NM_182472.3;EPHA5,intron_variant,,ENST00000432638,;	T	ENST00000622150	Transcript	missense_variant	1996/8421	1243/3117	415/1038	L/I	Ctt/Att	rs746506231	1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1	tolerated(0.41)		5/18		Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	65490536	65490536	G	T	1	0	0	0	0	1	0	0	0	5017	1000	35	2		2	EPHA5	4	65490536	Missense_Mutation	SNP	G	C3N-01405_TP	10394279	65490536	124724019	139	24086											
FRAS1	0	.	GRCh38	chr4	78477910	78477910	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagtttcactgtggagctCagcatgccagcttatgccct	8	11	11	11	0	2	1	2	0	0	1	2	3	2	2	2	1	5	4	2	1	1	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.7947C>T	p.=	p.L2649L	ENST00000512123	55/74	255	173	82	213	213	0	strelka-varscan	FRAS1,synonymous_variant,p.=,ENST00000512123,NM_025074.6;	T	ENST00000512123	Transcript	synonymous_variant	8387/15624	7947/12039	2649/4012	L	ctC/ctT		1		1	FRAS1	HGNC	HGNC:19185	protein_coding	YES	CCDS54771.1	ENSP00000422834	Q86XX4		UPI000021D4C2	NM_025074.6			55/74		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF29,SMART_domains:SM00237,Superfamily_domains:SSF141072																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	74	78477910	78477910	C	T	1	0	0	0	0	0	0	0	1	5908	813	29	3		3	FRAS1	4	78477910	Silent	SNP	C	C3N-01405_TP	12987374	78477910	111736645	140	24087											
MAPK10	0	.	GRCh38	chr4	86067879	86067879	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccacatagtttcttacTgtgggttgcaatttcttcat	7	19	6	9	0	4	0	1	0	3	0	5	0	4	0	1	1	2	3	1	1	3	7	rs752807441		C3N-01405_TP	C3N-01405_NB	T	T																c.879A>T	p.=	p.T293T	ENST00000359221	10/14	155	112	43	128	127	1	strelka-varscan	MAPK10,synonymous_variant,p.=,ENST00000395161,;MAPK10,synonymous_variant,p.=,ENST00000395169,NM_138980.2;MAPK10,synonymous_variant,p.=,ENST00000395166,;MAPK10,synonymous_variant,p.=,ENST00000359221,NM_138982.2;MAPK10,synonymous_variant,p.=,ENST00000449047,;MAPK10,synonymous_variant,p.=,ENST00000361569,NM_002753.3;MAPK10,synonymous_variant,p.=,ENST00000395160,NM_138981.2;MAPK10,synonymous_variant,p.=,ENST00000395157,;MAPK10,synonymous_variant,p.=,ENST00000515400,;MAPK10,non_coding_transcript_exon_variant,,ENST00000489368,;MAPK10,3_prime_UTR_variant,,ENST00000310816,;MAPK10,non_coding_transcript_exon_variant,,ENST00000508262,;	A	ENST00000359221	Transcript	synonymous_variant	1406/2672	879/1395	293/464	T	acA/acT	rs752807441	1		-1	MAPK10	HGNC	HGNC:6872	protein_coding	YES	CCDS34026.1	ENSP00000352157	P53779		UPI0000049042	NM_138982.2			10/14		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF162,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	86067879	86067879	T	A	1	0	0	0	0	0	0	0	1	9196	1567	55	4		4	MAPK10	4	86067879	Silent	SNP	T	C3N-01405_TP	7589969	86067879	104146676	141	24088											
GALNTL6	0	.	GRCh38	chr4	172813652	172813652	+	Missense_Mutation	SNP	C	C	A																															gccatgcgaggagccttcgaCtgggaaatgtactacaaaag																								novel		C3N-01405_TP	C3N-01405_NB	C	C																c.852C>A	p.Asp284Glu	p.D284E	ENST00000506823	7/13	85	68	17	74	74	0	strelka-varscan	GALNTL6,missense_variant,p.Asp284Glu,ENST00000506823,NM_001034845.2;GALNTL6,missense_variant,p.Asp267Glu,ENST00000508122,;GALNTL6,missense_variant,p.Asp100Glu,ENST00000616459,;	A	ENST00000506823	Transcript	missense_variant	1509/3922	852/1806	284/601	D/E	gaC/gaA		1		1	GALNTL6	HGNC	HGNC:33844	protein_coding	YES	CCDS34104.1	ENSP00000423313	Q49A17	E5D8G0	UPI000058EB5C	NM_001034845.2	deleterious(0)		7/13		Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF40,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	172813652	172813652	C	A	1	0	0	0	0	1	0	0	0	6093	564	20	2		2	GALNTL6	4	172813652	Missense_Mutation	SNP	C	C3N-01405_TP	86745773	172813652	17400903	142	24089	508	2									
GALNTL6	0	.	GRCh38	chr4	172813656	172813656	+	Missense_Mutation	SNP	G	G	A																															tgcgaggagccttcgactggGaaatgtactacaaaagaatc																								novel		C3N-01405_TP	C3N-01405_NB	G	G																c.856G>A	p.Glu286Lys	p.E286K	ENST00000506823	7/13	81	67	14	65	65	0	strelka-varscan	GALNTL6,missense_variant,p.Glu286Lys,ENST00000506823,NM_001034845.2;GALNTL6,missense_variant,p.Glu269Lys,ENST00000508122,;GALNTL6,missense_variant,p.Glu102Lys,ENST00000616459,;	A	ENST00000506823	Transcript	missense_variant	1513/3922	856/1806	286/601	E/K	Gaa/Aaa		1		1	GALNTL6	HGNC	HGNC:33844	protein_coding	YES	CCDS34104.1	ENSP00000423313	Q49A17	E5D8G0	UPI000058EB5C	NM_001034845.2	tolerated(0.18)		7/13		Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF40,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	172813656	172813656	G	A	1	0	0	0	0	1	0	0	0	6093	1175	41	3		3	GALNTL6	4	172813656	Missense_Mutation	SNP	G	C3N-01405_TP	4	172813656	17400899	143	24090	508	2									
SLC9A3	0	.	GRCh38	chr5	479935	479935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccgtctcatgaggaccctGctgaggaacttcctgtcgaa	9	9	11	12	2	1	2	1	2	1	0	4	6	2	4	3	2	2	1	3	2	2	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1548C>A	p.Ser516Arg	p.S516R	ENST00000264938	10/17	221	205	16	98	98	0	strelka-varscan-mutect	SLC9A3,missense_variant,p.Ser516Arg,ENST00000264938,NM_004174.2;SLC9A3,missense_variant,p.Ser507Arg,ENST00000514375,NM_001284351.1;CTD-2228K2.7,non_coding_transcript_exon_variant,,ENST00000607286,;CTD-2228K2.7,non_coding_transcript_exon_variant,,ENST00000606288,;CTD-2228K2.7,non_coding_transcript_exon_variant,,ENST00000607005,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606319,;CTD-2228K2.7,non_coding_transcript_exon_variant,,ENST00000534918,;CTD-2228K2.7,non_coding_transcript_exon_variant,,ENST00000606107,;SLC9A3,non_coding_transcript_exon_variant,,ENST00000507407,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606074,;	T	ENST00000264938	Transcript	missense_variant	1558/2584	1548/2505	516/834	S/R	agC/agA		1		-1	SLC9A3	HGNC	HGNC:11073	protein_coding	YES	CCDS3855.1	ENSP00000264938	P48764		UPI000013D597	NM_004174.2	tolerated(0.1)		10/17		hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF90,TIGRFAM_domain:TIGR00840																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	479935	479935	G	T	1	0	0	0	0	1	0	0	0	14995	1310	46	2		2	SLC9A3	5	479935	Missense_Mutation	SNP	G	C3N-01405_TP		479935	181058324	144	24091											
CTNND2	0	.	GRCh38	chr5	11022859	11022859	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccatgttcttggtaatcActtcgtgcagtgtgcagcag	7	14	10	10	1	3	0	1	0	2	0	5	0	3	0	1	1	3	5	1	1	1	4	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.2909T>A	p.Val970Glu	p.V970E	ENST00000304623	17/22	663	617	46	348	347	1	strelka-varscan-mutect	CTNND2,missense_variant,p.Val970Glu,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Val879Glu,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.Val633Glu,ENST00000503622,NM_001288716.1;CTNND2,missense_variant,p.Val65Glu,ENST00000458100,;RNU6-429P,upstream_gene_variant,,ENST00000384582,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,upstream_gene_variant,,ENST00000506324,;CTNND2,missense_variant,p.Val749Glu,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	T	ENST00000304623	Transcript	missense_variant	3099/5481	2909/3678	970/1225	V/E	gTg/gAg		1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	deleterious(0)		17/22		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	11022859	11022859	A	T	1	0	0	0	0	1	0	0	0	3829	159	6	4		4	CTNND2	5	11022859	Missense_Mutation	SNP	A	C3N-01405_TP	10542924	11022859	170515400	145	24092											
CTNND2	0	.	GRCh38	chr5	11346376	11346376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaggtttttacccacctggGatctttctgaatgctatcaa	11	14	7	9	0	3	1	1	1	2	0	3	2	3	2	2	2	2	2	2	2	5	5			C3N-01405_TP	C3N-01405_NB	G	G																c.1624C>A	p.Pro542Thr	p.P542T	ENST00000304623	9/22	28	14	14	23	23	0	strelka-varscan-mutect	CTNND2,missense_variant,p.Pro542Thr,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Pro451Thr,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.Pro205Thr,ENST00000503622,NM_001288716.1;CTNND2,downstream_gene_variant,,ENST00000502551,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,downstream_gene_variant,,ENST00000504354,;CTNND2,downstream_gene_variant,,ENST00000506735,;CTNND2,missense_variant,p.Pro296Thr,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	T	ENST00000304623	Transcript	missense_variant	1814/5481	1624/3678	542/1225	P/T	Ccc/Acc	COSM1695385	1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	deleterious(0)		9/22		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	74	11346376	11346376	G	T	1	0	0	0	0	1	0	0	0	3829	1188	41	2		2	CTNND2	5	11346376	Missense_Mutation	SNP	G	C3N-01405_TP	323517	11346376	170191883	146	24093											
CDH18	0	.	GRCh38	chr5	19483483	19483483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccatcagagatcataatgGgcagataatacacatcctga	16	8	7	10	0	2	3	2	1	0	2	3	4	3	3	2	1	1	1	2	1	3	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1700C>G	p.Pro567Arg	p.P567R	ENST00000507958	14/15	268	134	134	169	169	0	strelka-varscan-mutect	CDH18,missense_variant,p.Pro567Arg,ENST00000507958,NM_001291956.1;CDH18,missense_variant,p.Pro567Arg,ENST00000382275,NM_004934.3;CDH18,missense_variant,p.Pro567Arg,ENST00000274170,;CDH18,intron_variant,,ENST00000506372,NM_001291957.1;CDH18,intron_variant,,ENST00000502796,NM_001167667.1;CDH18,intron_variant,,ENST00000515257,;CDH18,upstream_gene_variant,,ENST00000510297,;	C	ENST00000507958	Transcript	missense_variant	2691/3542	1700/2373	567/790	P/R	cCc/cGc		1		-1	CDH18	HGNC	HGNC:1757	protein_coding	YES	CCDS3889.1	ENSP00000425093	Q13634		UPI0000126DBD	NM_001291956.1	deleterious(0)		14/15		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	74	19483483	19483483	G	C	1	0	0	0	0	1	0	0	0	2806	1232	43	4		4	CDH18	5	19483483	Missense_Mutation	SNP	G	C3N-01405_TP	8137107	19483483	162054776	147	24094											
CDH12	0	.	GRCh38	chr5	21842195	21842195	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggattgtcattgacatcGgtgagagtgatgttgactat	9	14	14	4	1	1	4	1	4	0	1	2	6	1	5	0	3	0	1	0	3	1	4	rs76592602		C3N-01405_TP	C3N-01405_NB	G	G																c.780C>A	p.=	p.T260T	ENST00000382254	8/15	181	105	76	91	91	0	strelka-varscan-mutect	CDH12,synonymous_variant,p.=,ENST00000382254,NM_004061.3;CDH12,synonymous_variant,p.=,ENST00000504376,;CDH12,synonymous_variant,p.=,ENST00000522262,;CDH12,non_coding_transcript_exon_variant,,ENST00000521384,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;	T	ENST00000382254	Transcript	synonymous_variant	1867/4164	780/2385	260/794	T	acC/acA	rs76592602	1		-1	CDH12	HGNC	HGNC:1751	protein_coding	YES	CCDS3890.1	ENSP00000371689	P55289		UPI00000622EB	NM_004061.3			8/15		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF96,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs76592602	.												T	2	4	74	21842195	21842195	G	T	1	0	0	0	0	0	0	0	1	2801	1103	39	1		1	CDH12	5	21842195	Silent	SNP	G	C3N-01405_TP	2358712	21842195	159696064	148	24095											
PRDM9	0	.	GRCh38	chr5	23509473	23509473	+	Frame_Shift_Del	DEL	A	A	-																															tctgttacttcctctaggtcAaagatgccttcaaagacatt																								novel		C3N-01405_TP	C3N-01405_NB	A	A																c.75delA	p.Asp26MetfsTer29	p.D26Mfs*29	ENST00000296682	3/11	376	196	180	256	256	0	sindel-varindel-pindel	PRDM9,frameshift_variant,p.Asp26MetfsTer29,ENST00000296682,NM_020227.2;PRDM9,frameshift_variant,p.Asp26MetfsTer29,ENST00000502755,;PRDM9,intron_variant,,ENST00000635252,;	-	ENST00000296682	Transcript	frameshift_variant	255/3691	73/2685	25/894	K/X	Aaa/aa		1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2			3/11		PROSITE_profiles:PS50806																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	74	23509473	23509473	A	-	1	0	1	0	1	0	0	0	0	12595	144	5	0		0	PRDM9	5	23509473	Frame_Shift_Del	DEL	A	C3N-01405_TP	1667278	23509473	158028786	149	24096											
EGFLAM	0	.	GRCh38	chr5	38409068	38409068	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgggaggggggatttcaTgtccctggctatcatccgac	8	9	13	11	2	2	0	2	0	0	0	4	3	4	2	2	5	0	1	2	5	1	2	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.1313T>A	p.Met438Lys	p.M438K	ENST00000354891	10/23	247	140	107	138	138	0	strelka-varscan-mutect	EGFLAM,missense_variant,p.Met438Lys,ENST00000322350,NM_152403.3;EGFLAM,missense_variant,p.Met438Lys,ENST00000354891,NM_001205301.1;EGFLAM,missense_variant,p.Met204Lys,ENST00000336740,NM_182798.2;EGFLAM,intron_variant,,ENST00000397202,;	A	ENST00000354891	Transcript	missense_variant	1659/3963	1313/3054	438/1017	M/K	aTg/aAg		1		1	EGFLAM	HGNC	HGNC:26810	protein_coding	YES	CCDS56363.1	ENSP00000346964	Q63HQ2		UPI000022C806	NM_001205301.1	deleterious(0)		10/23		PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.120.200,Pfam_domain:PF00054,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs1391961685	.												A	3	1	74	38409068	38409068	T	A	1	0	0	0	0	1	0	0	0	4802	1464	51	4		4	EGFLAM	5	38409068	Missense_Mutation	SNP	T	C3N-01405_TP	14899595	38409068	143129191	150	24097											
C6	0	.	GRCh38	chr5	41160252	41160252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcggccattattagggcatGgagcacactggcaaggatcg	10	8	14	9	2	0	0	0	0	0	0	2	2	0	2	1	5	1	3	1	5	3	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1574C>T	p.Pro525Leu	p.P525L	ENST00000263413	11/18	543	304	239	298	298	0	strelka-varscan-mutect	C6,missense_variant,p.Pro525Leu,ENST00000263413,NM_001115131.2;C6,missense_variant,p.Pro525Leu,ENST00000337836,NM_000065.3;C6,non_coding_transcript_exon_variant,,ENST00000475349,;C6,downstream_gene_variant,,ENST00000473450,;C6,non_coding_transcript_exon_variant,,ENST00000511470,;	A	ENST00000263413	Transcript	missense_variant	1839/3661	1574/2805	525/934	P/L	cCa/cTa		1		-1	C6	HGNC	HGNC:1339	protein_coding	YES	CCDS3936.1	ENSP00000263413	P13671		UPI000013D401	NM_001115131.2	deleterious(0.01)		11/18		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,Prints_domain:PR00764																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	41160252	41160252	G	A	1	0	0	0	0	1	0	0	0	2111	1348	47	3		3	C6	5	41160252	Missense_Mutation	SNP	G	C3N-01405_TP	2751184	41160252	140378007	151	24098											
C6	0	.	GRCh38	chr5	41199779	41199779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacattaccactgtcacagCgaaatttattcttgcagtca	13	13	5	10	1	3	0	2	0	1	0	3	1	3	0	1	0	4	1	1	0	4	6	rs757730138		C3N-01405_TP	C3N-01405_NB	C	C																c.434G>C	p.Arg145Pro	p.R145P	ENST00000263413	4/18	492	287	205	280	280	0	strelka-varscan-mutect	C6,missense_variant,p.Arg145Pro,ENST00000263413,NM_001115131.2;C6,missense_variant,p.Arg145Pro,ENST00000337836,NM_000065.3;C6,downstream_gene_variant,,ENST00000417809,;C6,downstream_gene_variant,,ENST00000433294,;	G	ENST00000263413	Transcript	missense_variant	699/3661	434/2805	145/934	R/P	cGc/cCc	rs757730138,COSM738765	1		-1	C6	HGNC	HGNC:1339	protein_coding	YES	CCDS3936.1	ENSP00000263413	P13671		UPI000013D401	NM_001115131.2	deleterious(0.04)		4/18		PROSITE_profiles:PS50068,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00764											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs757730138	.												G	3	3	74	41199779	41199779	C	G	1	0	0	0	0	1	0	0	0	2111	768	27	4		4	C6	5	41199779	Missense_Mutation	SNP	C	C3N-01405_TP	39527	41199779	140338480	152	24099											
C6	0	.	GRCh38	chr5	41203221	41203221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagtacaagacagagcGtctggccatgccttgagagc	12	7	13	9	1	1	4	0	2	1	3	1	6	1	4	2	1	4	1	2	1	3	2	rs150931891		C3N-01405_TP	C3N-01405_NB	G	G																c.10C>T	p.Arg4Cys	p.R4C	ENST00000263413	2/18	446	409	37	255	255	0	strelka-varscan-mutect	C6,missense_variant,p.Arg4Cys,ENST00000263413,NM_001115131.2;C6,missense_variant,p.Arg4Cys,ENST00000337836,NM_000065.3;C6,missense_variant,p.Arg4Cys,ENST00000417809,;C6,missense_variant,p.Arg4Cys,ENST00000433294,;	A	ENST00000263413	Transcript	missense_variant	275/3661	10/2805	4/934	R/C	Cgc/Tgc	rs150931891,COSM3855304	1		-1	C6	HGNC	HGNC:1339	protein_coding	YES	CCDS3936.1	ENSP00000263413	P13671		UPI000013D401	NM_001115131.2	tolerated(0.12)		2/18		Cleavage_site_(Signalp):SignalP-noTM											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs150931891	.												A	3	1	74	41203221	41203221	G	A	1	0	0	0	0	1	0	0	0	2111	1145	40	1		1	C6	5	41203221	Missense_Mutation	SNP	G	C3N-01405_TP	3442	41203221	140335038	153	24100											
FAM169A	0	.	GRCh38	chr5	74781765	74781765	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccccctcctcaccctggtCttccaatgaggaagtagtat	9	11	7	14	0	2	1	1	1	1	0	4	2	4	2	5	2	1	2	5	2	5	4	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1708G>C	p.Asp570His	p.D570H	ENST00000389156	13/13	144	127	17	125	125	0	strelka-varscan-mutect	FAM169A,missense_variant,p.Asp570His,ENST00000389156,NM_015566.2;FAM169A,missense_variant,p.Asp510His,ENST00000510496,;NSA2,downstream_gene_variant,,ENST00000610426,NM_014886.4;NSA2,downstream_gene_variant,,ENST00000296802,NM_001271665.1;NSA2,downstream_gene_variant,,ENST00000515524,;RNU6-1330P,downstream_gene_variant,,ENST00000362775,;FAM169A,3_prime_UTR_variant,,ENST00000514215,;FAM169A,3_prime_UTR_variant,,ENST00000510609,;	G	ENST00000389156	Transcript	missense_variant	1799/5990	1708/2013	570/670	D/H	Gac/Cac		1		-1	FAM169A	HGNC	HGNC:29138	protein_coding	YES	CCDS43330.1	ENSP00000373808	Q9Y6X4		UPI000013E38E	NM_015566.2	deleterious(0)		13/13		hmmpanther:PTHR22442:SF3,hmmpanther:PTHR22442																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	74781765	74781765	C	G	1	0	0	0	0	1	0	0	0	5333	913	32	4		4	FAM169A	5	74781765	Missense_Mutation	SNP	C	C3N-01405_TP	33578544	74781765	106756494	154	24101											
ANKRD31	0	.	GRCh38	chr5	75104498	75104498	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgccagagattctgatgcCcctgtaggtgattgctggga	7	12	14	8	0	1	3	0	2	1	1	1	5	1	4	3	2	3	2	3	2	1	3	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.4890G>T	p.=	p.G1630G	ENST00000274361	21/25	170	119	51	199	199	0	strelka-varscan-mutect	ANKRD31,synonymous_variant,p.=,ENST00000506364,;ANKRD31,synonymous_variant,p.=,ENST00000274361,NM_001164443.1;ANKRD31,non_coding_transcript_exon_variant,,ENST00000504022,;	A	ENST00000274361	Transcript	synonymous_variant	5082/6036	4890/5622	1630/1873	G	ggG/ggT		1		-1	ANKRD31	HGNC	HGNC:26853	protein_coding	YES	CCDS47233.1	ENSP00000274361	Q8N7Z5		UPI00001D7FAE	NM_001164443.1			21/25		hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF14																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	74	75104498	75104498	C	A	1	0	0	0	0	0	0	0	1	764	610	22	2		2	ANKRD31	5	75104498	Silent	SNP	C	C3N-01405_TP	322733	75104498	106433761	155	24102											
ARSB	0	.	GRCh38	chr5	78985161	78985161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccggcggcgccaacaacaGcagcagcagcagcgggagga	11	0	16	14	4	0	0	0	0	0	0	0	2	0	2	2	4	7	4	2	4	2	0	rs766870239		C3N-01405_TP	C3N-01405_NB	G	G																c.88C>T	p.=	p.L30L	ENST00000264914	1/8	42	38	4	34	34	0	strelka-mutect	ARSB,synonymous_variant,p.=,ENST00000264914,NM_000046.3;ARSB,synonymous_variant,p.=,ENST00000396151,NM_198709.2;ARSB,synonymous_variant,p.=,ENST00000565165,;ARSB,synonymous_variant,p.=,ENST00000521117,;	A	ENST00000264914	Transcript	synonymous_variant	625/5327	88/1602	30/533	L	Ctg/Ttg	rs766870239,COSM3856419,COSM3856420	1		-1	ARSB	HGNC	HGNC:714	protein_coding	YES	CCDS4043.1	ENSP00000264914	P15848	A0A024RAJ9	UPI00001260A3	NM_000046.3			1/8		hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF230,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs766870239	.												A	2	1	74	78985161	78985161	G	A	1	0	0	0	0	0	0	0	1	1131	962	34	3		3	ARSB	5	78985161	Silent	SNP	G	C3N-01405_TP	3880663	78985161	102553098	156	24103											
CMYA5	0	.	GRCh38	chr5	79791027	79791027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctacacatttcctcaaGtgggacagtgatcagctttg	9	13	9	10	0	3	1	2	1	1	0	4	2	4	2	1	1	3	2	1	1	2	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.11747G>T	p.Ser3916Ile	p.S3916I	ENST00000446378	11/13	125	92	33	173	173	0	strelka-varscan-mutect	CMYA5,missense_variant,p.Ser3916Ile,ENST00000446378,NM_153610.4;CTC-431G16.2,intron_variant,,ENST00000421252,;CMYA5,non_coding_transcript_exon_variant,,ENST00000506603,;	T	ENST00000446378	Transcript	missense_variant	11778/12847	11747/12210	3916/4069	S/I	aGt/aTt		1		1	CMYA5	HGNC	HGNC:14305	protein_coding	YES	CCDS47238.1	ENSP00000394770	Q8N3K9		UPI00004F9478	NM_153610.4	deleterious(0)		11/13		PROSITE_profiles:PS50188,hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7,Superfamily_domains:SSF49899																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	74	79791027	79791027	G	T	1	0	0	0	0	1	0	0	0	3368	1029	36	2		2	CMYA5	5	79791027	Missense_Mutation	SNP	G	C3N-01405_TP	805866	79791027	101747232	157	24104											
RASGRF2	0	.	GRCh38	chr5	81212512	81212512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatcacctcggccttaaaCagaagtgccatctacaggct	12	8	9	12	1	2	2	1	0	1	2	3	3	2	2	3	2	3	1	3	2	4	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.3303C>A	p.Asn1101Lys	p.N1101K	ENST00000265080	23/27	140	105	35	113	113	0	strelka-varscan-mutect	RASGRF2,missense_variant,p.Asn1101Lys,ENST00000265080,NM_006909.2;CKMT2-AS1,intron_variant,,ENST00000511495,;CKMT2-AS1,intron_variant,,ENST00000503483,;RASGRF2,missense_variant,p.Asn1101Lys,ENST00000503795,;	A	ENST00000265080	Transcript	missense_variant	3370/8167	3303/3714	1101/1237	N/K	aaC/aaA		1		1	RASGRF2	HGNC	HGNC:9876	protein_coding	YES	CCDS4052.1	ENSP00000265080	O14827		UPI0000047ABF	NM_006909.2	deleterious(0.04)		23/27		PROSITE_profiles:PS50009,hmmpanther:PTHR23113:SF187,hmmpanther:PTHR23113,Pfam_domain:PF00617,Gene3D:2ii0A02,SMART_domains:SM00147,Superfamily_domains:0041591																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	81212512	81212512	C	A	1	0	0	0	0	1	0	0	0	13234	477	17	2		2	RASGRF2	5	81212512	Missense_Mutation	SNP	C	C3N-01405_TP	1421485	81212512	100325747	158	24105											
FBN2	0	.	GRCh38	chr5	128336025	128336025	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcgtagcctgatatccAggattgcaagagcactgata	11	10	11	9	1	1	3	0	2	1	1	2	4	2	4	2	2	3	3	2	2	4	4	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.3687T>C	p.=	p.P1229P	ENST00000508053	34/71	417	310	107	367	367	0	strelka-varscan-mutect	FBN2,synonymous_variant,p.=,ENST00000508053,;FBN2,synonymous_variant,p.=,ENST00000262464,NM_001999.3;FBN2,synonymous_variant,p.=,ENST00000619499,;FBN2,synonymous_variant,p.=,ENST00000508989,;FBN2,synonymous_variant,p.=,ENST00000507835,;	G	ENST00000508053	Transcript	synonymous_variant	4662/11132	3687/8739	1229/2912	P	ccT/ccC		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468				34/71		Gene3D:2.10.25.10,PD968187,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184,Superfamily_domains:SSF57196																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	74	128336025	128336025	A	G	1	0	0	0	0	0	0	0	1	5566	175	7	5		5	FBN2	5	128336025	Silent	SNP	A	C3N-01405_TP	47123513	128336025	53202234	159	24106											
SMAD5	0	.	GRCh38	chr5	136177387	136177387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaaccagcaccccatgttgGattgagattcatcttcatgg	10	12	9	10	0	3	1	2	1	1	1	3	3	3	2	3	2	2	3	3	2	1	5	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1305G>T	p.Trp435Cys	p.W435C	ENST00000545279	8/8	264	184	80	288	288	0	strelka-varscan-mutect	SMAD5,missense_variant,p.Trp435Cys,ENST00000545279,NM_005903.6,NM_001001419.2;SMAD5,missense_variant,p.Trp435Cys,ENST00000545620,NM_001001420.2;SMAD5,downstream_gene_variant,,ENST00000507637,;SMAD5,downstream_gene_variant,,ENST00000514777,;SMAD5,intron_variant,,ENST00000513418,;	T	ENST00000545279	Transcript	missense_variant	1667/7012	1305/1398	435/465	W/C	tgG/tgT		1		1	SMAD5	HGNC	HGNC:6771	protein_coding	YES	CCDS75308.1	ENSP00000441954	Q99717	Q68DB7	UPI0000135A7E	NM_005903.6,NM_001001419.2	deleterious(0)		8/8		PROSITE_profiles:PS51076,hmmpanther:PTHR13703:SF36,hmmpanther:PTHR13703,Gene3D:2.60.200.10,Pfam_domain:PF03166,SMART_domains:SM00524,Superfamily_domains:SSF49879																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	136177387	136177387	G	T	1	0	0	0	0	1	0	0	0	15054	1183	41	2		2	SMAD5	5	136177387	Missense_Mutation	SNP	G	C3N-01405_TP	7841362	136177387	45360872	160	24107											
KLHL3	0	.	GRCh38	chr5	137634036	137634036	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccccgaggttctcccataCctgcgccactgcggcgggtg	5	7	12	17	4	1	0	0	0	1	0	2	1	1	0	5	3	3	1	5	3	1	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1450+1G>T		p.X484_splice	ENST00000309755		256	189	67	248	248	0	strelka-varscan-mutect	KLHL3,splice_donor_variant,,ENST00000508657,NM_001257194.1;KLHL3,splice_donor_variant,,ENST00000309755,NM_017415.2;KLHL3,splice_donor_variant,,ENST00000506491,NM_001257195.1;KLHL3,downstream_gene_variant,,ENST00000505853,;KLHL3,splice_donor_variant,,ENST00000506873,;KLHL3,downstream_gene_variant,,ENST00000502381,;KLHL3,intron_variant,,ENST00000504208,;KLHL3,upstream_gene_variant,,ENST00000447439,;	A	ENST00000309755	Transcript	splice_donor_variant	-/6806	1450/1764	484/587				1		-1	KLHL3	HGNC	HGNC:6354	protein_coding	YES	CCDS4192.1	ENSP00000312397	Q9UH77		UPI000012DE05	NM_017415.2				12/14																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	74	137634036	137634036	C	A	1	0	0	0	0	0	0	1	0	8248	521	18	2		2	KLHL3	5	137634036	Splice_Site	SNP	C	C3N-01405_TP	1456649	137634036	43904223	161	24108											
PCDHB5	0	.	GRCh38	chr5	141135795	141135795	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagttttttcaaactgatCtgcagctcacagatataaat	13	14	6	8	0	3	2	2	1	1	1	3	2	3	2	0	0	4	4	0	0	4	5	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.361C>T	p.=	p.L121L	ENST00000231134	1/1	136	97	39	122	122	0	strelka-varscan-mutect	PCDHB5,synonymous_variant,p.=,ENST00000231134,NM_015669.4;PCDHB5,intron_variant,,ENST00000623915,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;CH17-140K24.2,downstream_gene_variant,,ENST00000624192,;	T	ENST00000231134	Transcript	synonymous_variant	578/3408	361/2388	121/795	L	Ctg/Ttg		1		1	PCDHB5	HGNC	HGNC:8690	protein_coding	YES	CCDS4247.1	ENSP00000231134	Q9Y5E4		UPI0000169DEA	NM_015669.4			1/1		PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF90																	LOW	1	SNV				1										PASS		.	.												T	2	4	74	141135795	141135795	C	T	1	0	0	0	0	0	0	0	1	11632	912	32	3		3	PCDHB5	5	141135795	Silent	SNP	C	C3N-01405_TP	3501759	141135795	40402464	162	24109											
PCDHB13	0	.	GRCh38	chr5	141215443	141215443	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctcaatatgaccgtgctGatcgccgatgtcaatgacaa	12	9	9	11	3	2	3	2	3	0	0	3	4	2	3	2	0	2	2	2	0	4	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1320G>C	p.=	p.L440L	ENST00000341948	1/1	352	263	89	338	337	1	strelka-varscan-mutect	PCDHB13,synonymous_variant,p.=,ENST00000341948,NM_018933.3;PCDHB12,downstream_gene_variant,,ENST00000239450,NM_018932.3;PCDHB12,downstream_gene_variant,,ENST00000622978,;PCDHB12,downstream_gene_variant,,ENST00000624949,;CH17-140K24.2,intron_variant,,ENST00000624192,;	C	ENST00000341948	Transcript	synonymous_variant	1525/5061	1320/2397	440/798	L	ctG/ctC		1		1	PCDHB13	HGNC	HGNC:8684	protein_coding	YES	CCDS4255.1	ENSP00000345491	Q9Y5F0		UPI0000047816	NM_018933.3			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF129,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	LOW	1	SNV				1										PASS		.	.												C	2	2	74	141215443	141215443	G	C	1	0	0	0	0	0	0	0	1	11625	1277	45	4		4	PCDHB13	5	141215443	Silent	SNP	G	C3N-01405_TP	79648	141215443	40322816	163	24110											
PCDHGB4	0	.	GRCh38	chr5	141389433	141389433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggtgttcgcgcagcgcGccttcgaccacgagcagctg	5	7	16	13	6	0	0	0	0	0	0	2	2	0	0	2	2	3	4	2	2	0	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1549G>T	p.Ala517Ser	p.A517S	ENST00000519479	1/4	427	379	48	383	383	0	strelka-varscan-mutect	PCDHGB4,missense_variant,p.Ala517Ser,ENST00000615384,NM_032098.1;PCDHGB4,missense_variant,p.Ala517Ser,ENST00000519479,NM_003736.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA8,upstream_gene_variant,,ENST00000610569,NM_014004.2;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1;PCDHGA7,downstream_gene_variant,,ENST00000617050,NM_032087.2;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000519479	Transcript	missense_variant	1549/4578	1549/2772	517/923	A/S	Gcc/Tcc		1		1	PCDHGB4	HGNC	HGNC:8711	protein_coding	YES	CCDS54928.1	ENSP00000428288	Q9UN71		UPI000006F773	NM_003736.2	tolerated(1)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF117,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	141389433	141389433	G	T	1	0	0	0	0	1	0	0	0	11652	1087	38	1		1	PCDHGB4	5	141389433	Missense_Mutation	SNP	G	C3N-01405_TP	173990	141389433	40148826	164	24111											
ADAM19	0	.	GRCh38	chr5	157488335	157488335	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctggacgactccgtcCtctctatttgagacccgggc	5	10	10	16	3	1	1	0	1	1	1	5	4	4	2	5	2	0	0	5	2	1	2			C3N-01405_TP	C3N-01405_NB	C	C																c.2480G>C	p.Arg827Thr	p.R827T	ENST00000257527	21/23	186	138	48	170	170	0	strelka-varscan-mutect	ADAM19,missense_variant,p.Arg827Thr,ENST00000257527,NM_033274.4;ADAM19,missense_variant,p.Arg827Thr,ENST00000517905,;ADAM19,missense_variant,p.Arg398Thr,ENST00000517374,;ADAM19,3_prime_UTR_variant,,ENST00000517951,;	G	ENST00000257527	Transcript	missense_variant	2559/6481	2480/2757	827/918	R/T	aGg/aCg	COSM3613282,COSM3613283,COSM3613284,COSM4906070	1		-1	ADAM19	HGNC	HGNC:197	protein_coding	YES	CCDS4338.1	ENSP00000257527	Q9H013		UPI000013CF6A	NM_033274.4	tolerated(0.33)		21/23													1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												G	3	3	74	157488335	157488335	C	G	1	0	0	0	0	1	0	0	0	284	681	24	4		4	ADAM19	5	157488335	Missense_Mutation	SNP	C	C3N-01405_TP	16098902	157488335	24049924	165	24112											
EBF1	0	.	GRCh38	chr5	159099434	159099434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccagcggctcttccttCatgctgcttccactccgttg	3	13	8	17	2	2	0	1	0	1	0	5	0	5	0	4	1	4	4	4	1	0	4	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.45G>T	p.Met15Ile	p.M15I	ENST00000313708	1/16	134	100	34	178	177	1	strelka-varscan-mutect	EBF1,missense_variant,p.Met15Ile,ENST00000313708,NM_001324107.1,NM_024007.3,NM_001290360.1;EBF1,missense_variant,p.Met15Ile,ENST00000380654,NM_182708.1;EBF1,missense_variant,p.Met15Ile,ENST00000517373,;RP11-175K6.1,upstream_gene_variant,,ENST00000499583,;RP11-175K6.1,upstream_gene_variant,,ENST00000517335,;RP11-175K6.1,upstream_gene_variant,,ENST00000523301,;EBF1,non_coding_transcript_exon_variant,,ENST00000518836,;EBF1,upstream_gene_variant,,ENST00000523315,;EBF1,upstream_gene_variant,,ENST00000519739,;EBF1,upstream_gene_variant,,ENST00000522192,;	A	ENST00000313708	Transcript	missense_variant	328/5250	45/1776	15/591	M/I	atG/atT		1		-1	EBF1	HGNC	HGNC:3126	protein_coding	YES	CCDS4343.1	ENSP00000322898	Q9UH73		UPI000000D95E	NM_001324107.1,NM_024007.3,NM_001290360.1	deleterious_low_confidence(0.04)		1/16		hmmpanther:PTHR10747																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	159099434	159099434	C	A	1	0	0	0	0	1	0	0	0	4704	826	29	2		2	EBF1	5	159099434	Missense_Mutation	SNP	C	C3N-01405_TP	1611099	159099434	22438825	166	24113											
KCNMB1	0	.	GRCh38	chr5	170383693	170383693	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtacctgctggttctggtCccgagtgtcctccgtgtggt	3	13	13	12	2	1	0	0	0	1	0	4	1	4	0	4	3	2	3	4	3	1	2			C3N-01405_TP	C3N-01405_NB	C	C																c.292G>T	p.Asp98Tyr	p.D98Y	ENST00000274629	3/4	397	313	84	366	365	1	strelka-varscan-mutect	KCNMB1,missense_variant,p.Asp98Tyr,ENST00000274629,NM_004137.3;KCNMB1,missense_variant,p.Asp98Tyr,ENST00000521859,;KCNIP1,intron_variant,,ENST00000377360,NM_001034838.2;KCNIP1,intron_variant,,ENST00000518527,;KCNIP1,intron_variant,,ENST00000517344,;	A	ENST00000274629	Transcript	missense_variant	735/5052	292/576	98/191	D/Y	Gac/Tac	COSM1696729	1		-1	KCNMB1	HGNC	HGNC:6285	protein_coding	YES	CCDS4373.1	ENSP00000274629	Q16558		UPI0000000DBA	NM_004137.3	deleterious(0)		3/4		hmmpanther:PTHR10258:SF1,hmmpanther:PTHR10258,Pfam_domain:PF03185,Prints_domain:PR01450											1						MODERATE	1	SNV	1		1	1										PASS		rs1211658154	.												A	3	1	74	170383693	170383693	C	A	1	0	0	0	0	1	0	0	0	7991	855	30	2		2	KCNMB1	5	170383693	Missense_Mutation	SNP	C	C3N-01405_TP	11284259	170383693	11154566	167	24114											
GMPR	0	.	GRCh38	chr6	16250296	16250296	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctagcactccatgtttAcagcaattcataagcattac	12	15	4	10	0	2	0	1	0	1	0	3	0	3	0	1	0	5	4	1	0	5	8	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.220A>C	p.Thr74Pro	p.T74P	ENST00000259727	3/9	233	218	15	191	191	0	strelka-varscan-mutect	GMPR,missense_variant,p.Thr74Pro,ENST00000259727,NM_006877.3;	C	ENST00000259727	Transcript	missense_variant	334/1515	220/1038	74/345	T/P	Aca/Cca		1		1	GMPR	HGNC	HGNC:4376	protein_coding	YES	CCDS4537.1	ENSP00000259727	P36959		UPI000012B8B2	NM_006877.3	deleterious(0.01)		3/9		Gene3D:3.20.20.70,HAMAP:MF_00596,Pfam_domain:PF00478,PIRSF_domain:PIRSF000235,hmmpanther:PTHR11911,hmmpanther:PTHR11911:SF61,SMART_domains:SM01240,Superfamily_domains:SSF51412,TIGRFAM_domain:TIGR01305																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	74	16250296	16250296	A	C	1	0	0	0	0	1	0	0	0	6376	391	14	5		5	GMPR	6	16250296	Missense_Mutation	SNP	A	C3N-01405_TP		16250296	154555683	168	24115											
NUP153	0	.	GRCh38	chr6	17637613	17637613	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtaactttgttctggagTagacatgtatcacactgcca	10	14	8	9	0	3	1	1	0	2	1	3	2	3	2	1	1	2	4	1	1	3	5	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.2097A>T	p.=	p.L699L	ENST00000537253	17/23	283	194	89	224	224	0	strelka-varscan-mutect	NUP153,synonymous_variant,p.=,ENST00000537253,NM_001278209.1;NUP153,synonymous_variant,p.=,ENST00000613258,NM_001278210.1;NUP153,synonymous_variant,p.=,ENST00000262077,NM_005124.3;	A	ENST00000537253	Transcript	synonymous_variant	2544/6030	2097/4521	699/1506	L	ctA/ctT		1		-1	NUP153	HGNC	HGNC:8062	protein_coding	YES	CCDS64359.1	ENSP00000444029	P49790		UPI0001AE7240	NM_001278209.1			17/23		PROSITE_profiles:PS50199,hmmpanther:PTHR23193:SF26,hmmpanther:PTHR23193,PROSITE_patterns:PS01358,Pfam_domain:PF00641,SMART_domains:SM00547,Superfamily_domains:SSF90209																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	74	17637613	17637613	T	A	1	0	0	0	0	0	0	0	1	10820	1625	57	4		4	NUP153	6	17637613	Silent	SNP	T	C3N-01405_TP	1387317	17637613	153168366	169	24116											
SLC17A4	0	.	GRCh38	chr6	25769069	25769069	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaacaaatgaacttgagcaTtgccatcccagctatggtga	13	9	8	11	0	0	3	0	3	0	0	1	3	1	3	3	1	5	2	3	1	4	3	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.176T>C	p.Ile59Thr	p.I59T	ENST00000377905	3/12	478	431	47	343	343	0	strelka-varscan	SLC17A4,missense_variant,p.Ile5Thr,ENST00000439485,NM_001286121.1;SLC17A4,missense_variant,p.Ile59Thr,ENST00000377905,NM_005495.2;SLC17A4,missense_variant,p.Ile5Thr,ENST00000397076,;	C	ENST00000377905	Transcript	missense_variant	295/3616	176/1494	59/497	I/T	aTt/aCt		1		1	SLC17A4	HGNC	HGNC:10932	protein_coding	YES	CCDS4564.1	ENSP00000367137	Q9Y2C5	A0A024R013	UPI0000073585	NM_005495.2	deleterious(0)		3/12		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF284,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	74	25769069	25769069	T	C	1	0	0	0	0	1	0	0	0	14684	1493	52	5		5	SLC17A4	6	25769069	Missense_Mutation	SNP	T	C3N-01405_TP	8131456	25769069	145036910	170	24117											
HIST1H2AH	0	.	GRCh38	chr6	27147492	27147492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgctgcctaagaagactGagagccaccataaggccaaa	14	6	10	11	0	0	3	0	1	0	3	0	4	0	3	4	1	4	2	4	1	4	2			C3N-01405_TP	C3N-01405_NB	G	G																c.364G>A	p.Glu122Lys	p.E122K	ENST00000377459	1/1	183	165	18	137	137	0	strelka-varscan	HIST1H2AH,missense_variant,p.Glu122Lys,ENST00000377459,NM_080596.2;HIST1H2BK,upstream_gene_variant,,ENST00000356950,NM_080593.2;MIR3143,upstream_gene_variant,,ENST00000584253,;	A	ENST00000377459	Transcript	missense_variant	364/387	364/387	122/128	E/K	Gag/Aag	COSM4835669	1		1	HIST1H2AH	HGNC	HGNC:13671	protein_coding	YES	CCDS4622.1	ENSP00000366679	Q96KK5	A3KPC7	UPI0000073C8A	NM_080596.2	tolerated_low_confidence(0.21)		1/1		hmmpanther:PTHR23430,Gene3D:1.10.20.10,Pfam_domain:PF16211,SMART_domains:SM00414											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	74	27147492	27147492	G	A	1	0	0	0	0	1	0	0	0	7022	1291	45	3		3	HIST1H2AH	6	27147492	Missense_Mutation	SNP	G	C3N-01405_TP	1378423	27147492	143658487	171	24118											
VARS2	0	.	GRCh38	chr6	30922192	30922192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgctgttctgggtgggccGcatggtcatgttggggaccc	3	12	16	10	1	3	0	1	0	2	0	3	1	3	1	2	5	1	4	2	5	0	2			C3N-01405_TP	C3N-01405_NB	G	G																c.1973G>T	p.Arg658Leu	p.R658L	ENST00000541562	20/30	162	146	16	121	120	1	strelka-varscan	VARS2,missense_variant,p.Arg628Leu,ENST00000321897,NM_020442.5;VARS2,missense_variant,p.Arg626Leu,ENST00000542001,;VARS2,missense_variant,p.Arg658Leu,ENST00000541562,NM_001167734.1;VARS2,missense_variant,p.Arg488Leu,ENST00000625423,NM_001167733.2;VARS2,downstream_gene_variant,,ENST00000428017,;VARS2,non_coding_transcript_exon_variant,,ENST00000476162,;VARS2,downstream_gene_variant,,ENST00000467717,;VARS2,non_coding_transcript_exon_variant,,ENST00000477288,;VARS2,non_coding_transcript_exon_variant,,ENST00000469358,;VARS2,upstream_gene_variant,,ENST00000473916,;VARS2,downstream_gene_variant,,ENST00000490699,;VARS2,upstream_gene_variant,,ENST00000477052,;	T	ENST00000541562	Transcript	missense_variant	2054/3566	1973/3282	658/1093	R/L	cGc/cTc	COSM185214	1		1	VARS2	HGNC	HGNC:21642	protein_coding	YES	CCDS54980.1	ENSP00000441000	Q5ST30		UPI0001BDAB0F	NM_001167734.1	deleterious(0)		20/30		hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF71,Gene3D:3.40.50.620,Pfam_domain:PF00133,TIGRFAM_domain:TIGR00422,Superfamily_domains:SSF52374,Prints_domain:PR00986											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	74	30922192	30922192	G	T	1	0	0	0	0	1	0	0	0	17669	1087	38	1		1	VARS2	6	30922192	Missense_Mutation	SNP	G	C3N-01405_TP	3774700	30922192	139883787	172	24119											
TCF19	0	.	GRCh38	chr6	31161894	31161894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggaggaaatctgttcaccGagtgttggcggaactggatg	9	10	15	7	3	2	0	1	0	1	0	3	5	2	4	1	5	1	2	1	5	2	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.686G>T	p.Arg229Leu	p.R229L	ENST00000376257	3/4	187	173	14	141	141	0	strelka-varscan	TCF19,missense_variant,p.Arg229Leu,ENST00000376257,NM_007109.2;TCF19,missense_variant,p.Arg229Leu,ENST00000376255,NM_001077511.1;TCF19,missense_variant,p.Arg149Leu,ENST00000542218,;CCHCR1,upstream_gene_variant,,ENST00000396268,NM_001105564.1;CCHCR1,upstream_gene_variant,,ENST00000376266,NM_019052.3;CCHCR1,upstream_gene_variant,,ENST00000451521,NM_001105563.1;CCHCR1,upstream_gene_variant,,ENST00000396263,;POU5F1,downstream_gene_variant,,ENST00000513407,NM_001285986.1;POU5F1,downstream_gene_variant,,ENST00000471529,;POU5F1,downstream_gene_variant,,ENST00000620031,NM_001173531.2,NM_001285987.1,NM_203289.5;POU5F1,downstream_gene_variant,,ENST00000259915,NM_002701.5;POU5F1,downstream_gene_variant,,ENST00000606567,;POU5F1,downstream_gene_variant,,ENST00000512818,;POU5F1,downstream_gene_variant,,ENST00000441888,;CCHCR1,upstream_gene_variant,,ENST00000506831,;CCHCR1,upstream_gene_variant,,ENST00000426967,;CCHCR1,upstream_gene_variant,,ENST00000448162,;CCHCR1,upstream_gene_variant,,ENST00000455279,;CCHCR1,upstream_gene_variant,,ENST00000448141,;CCHCR1,upstream_gene_variant,,ENST00000502557,;CCHCR1,upstream_gene_variant,,ENST00000507829,;CCHCR1,upstream_gene_variant,,ENST00000507751,;CCHCR1,upstream_gene_variant,,ENST00000503420,;CCHCR1,upstream_gene_variant,,ENST00000508683,;CCHCR1,upstream_gene_variant,,ENST00000503934,;CCHCR1,upstream_gene_variant,,ENST00000507226,;CCHCR1,upstream_gene_variant,,ENST00000513222,;CCHCR1,upstream_gene_variant,,ENST00000507892,;CCHCR1,upstream_gene_variant,,ENST00000428174,;TCF19,non_coding_transcript_exon_variant,,ENST00000496421,;CCHCR1,upstream_gene_variant,,ENST00000480060,;CCHCR1,upstream_gene_variant,,ENST00000509552,;POU5F1,downstream_gene_variant,,ENST00000461401,;CCHCR1,upstream_gene_variant,,ENST00000475684,;CCHCR1,upstream_gene_variant,,ENST00000488920,;CCHCR1,upstream_gene_variant,,ENST00000508852,;CCHCR1,upstream_gene_variant,,ENST00000507459,;CCHCR1,upstream_gene_variant,,ENST00000512418,;CCHCR1,upstream_gene_variant,,ENST00000505392,;	T	ENST00000376257	Transcript	missense_variant	1440/3290	686/1038	229/345	R/L	cGa/cTa		1		1	TCF19	HGNC	HGNC:11629	protein_coding	YES	CCDS43446.1	ENSP00000365433	Q9Y242		UPI0000071646	NM_007109.2	tolerated(0.14)		3/4		hmmpanther:PTHR15464,hmmpanther:PTHR15464:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	31161894	31161894	G	T	1	0	0	0	0	1	0	0	0	16096	1058	37	1		1	TCF19	6	31161894	Missense_Mutation	SNP	G	C3N-01405_TP	239702	31161894	139644085	173	24120											
BTNL2	0	.	GRCh38	chr6	32396154	32396154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcagggtcagtctgccCtcgtcaatggcgtcactcac	7	10	10	14	2	6	0	4	0	2	0	7	0	6	0	1	2	2	1	1	2	1	0	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.963G>C	p.Glu321Asp	p.E321D	ENST00000454136	5/7	335	242	93	256	256	0	strelka-varscan	BTNL2,missense_variant,p.Glu321Asp,ENST00000454136,NM_001304561.1;BTNL2,missense_variant,p.Glu321Asp,ENST00000374993,;BTNL2,missense_variant,p.Glu44Asp,ENST00000544175,;HCG23,downstream_gene_variant,,ENST00000426643,;BTNL2,3_prime_UTR_variant,,ENST00000465865,;	G	ENST00000454136	Transcript	missense_variant	968/1460	963/1449	321/482	E/D	gaG/gaC		1		-1	BTNL2	HGNC	HGNC:1142	protein_coding	YES	CCDS78126.1	ENSP00000390613		F8WBA1	UPI0001B79374	NM_001304561.1	deleterious(0.04)		5/7		PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF15,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	74	32396154	32396154	C	G	1	0	0	0	0	1	0	0	0	1741	680	24	4		4	BTNL2	6	32396154	Missense_Mutation	SNP	C	C3N-01405_TP	1234260	32396154	138409825	174	24121											
CLPSL2	0	.	GRCh38	chr6	35777472	35777472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacagaaaatcacagacaGgtgcttccaccactctgagt	13	7	7	14	0	2	3	1	1	1	2	3	3	3	3	3	1	1	1	3	1	2	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.98G>T	p.Arg33Met	p.R33M	ENST00000360454	2/4	122	83	39	78	78	0	strelka-varscan	CLPSL2,missense_variant,p.Arg33Met,ENST00000360454,NM_001286550.1;CLPSL2,missense_variant,p.Arg33Met,ENST00000403376,NM_207409.3;CLPSL1,upstream_gene_variant,,ENST00000373861,NM_001010886.3;CLPSL2,non_coding_transcript_exon_variant,,ENST00000481904,;CLPSL2,intron_variant,,ENST00000467122,;	T	ENST00000360454	Transcript	missense_variant	102/488	98/462	33/153	R/M	aGg/aTg		1		1	CLPSL2	HGNC	HGNC:21250	protein_coding	YES	CCDS69095.1	ENSP00000353639	Q6UWE3		UPI000045742B	NM_001286550.1	deleterious_low_confidence(0)		2/4		hmmpanther:PTHR10041,hmmpanther:PTHR10041:SF3,Gene3D:2.10.80.10,Pfam_domain:PF15083																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	35777472	35777472	G	T	1	0	0	0	0	1	0	0	0	3325	1000	35	2		2	CLPSL2	6	35777472	Missense_Mutation	SNP	G	C3N-01405_TP	3381318	35777472	135028507	175	24122											
GLTSCR1L	0	.	GRCh38	chr6	42865013	42865013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccagtcagtgctctcccgGccctgaggggcaccggaaaa	8	5	14	14	2	2	1	1	1	1	0	3	2	2	2	4	5	1	2	4	5	2	0	rs769380369		C3N-01405_TP	C3N-01405_NB	G	G																c.2807G>T	p.Gly936Val	p.G936V	ENST00000314073	13/13	291	246	45	218	218	0	strelka-varscan	GLTSCR1L,missense_variant,p.Gly936Val,ENST00000314073,NM_001318819.1;GLTSCR1L,missense_variant,p.Gly936Val,ENST00000394168,NM_015349.1;GLTSCR1L,missense_variant,p.Gly936Val,ENST00000614467,;	T	ENST00000314073	Transcript	missense_variant	2983/6530	2807/3240	936/1079	G/V	gGc/gTc	rs769380369	1		1	GLTSCR1L	HGNC	HGNC:21111	protein_coding	YES	CCDS34451.1	ENSP00000313933	Q6AI39		UPI0000161939	NM_001318819.1	tolerated_low_confidence(0.23)		13/13		hmmpanther:PTHR15572																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	42865013	42865013	G	T	1	0	0	0	0	1	0	0	0	6351	1203	42	2		2	GLTSCR1L	6	42865013	Missense_Mutation	SNP	G	C3N-01405_TP	7087541	42865013	127940966	176	24123											
TTBK1	0	.	GRCh38	chr6	43284251	43284251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatgcctgttgcagccCagcagcccgccagcagatcc	7	6	10	18	1	0	1	0	0	0	1	1	1	1	1	6	0	7	4	6	0	0	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.3511C>G	p.Gln1171Glu	p.Q1171E	ENST00000259750	14/15	104	78	26	62	62	0	strelka-varscan	TTBK1,missense_variant,p.Gln1171Glu,ENST00000259750,NM_032538.1;	G	ENST00000259750	Transcript	missense_variant	3594/6932	3511/3966	1171/1321	Q/E	Cag/Gag		1		1	TTBK1	HGNC	HGNC:19140	protein_coding	YES	CCDS34455.1	ENSP00000259750	Q5TCY1		UPI000041512B	NM_032538.1	tolerated_low_confidence(0.39)		14/15																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	43284251	43284251	C	G	1	0	0	0	0	1	0	0	0	17186	595	21	4		4	TTBK1	6	43284251	Missense_Mutation	SNP	C	C3N-01405_TP	419238	43284251	127521728	177	24124											
PGK2	0	.	GRCh38	chr6	49786322	49786322	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttctcgtcaaacttgtccCcagtaacaaaatcaacagga	14	9	6	12	2	3	0	2	0	1	0	5	1	4	1	2	1	3	2	2	1	5	3	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.866G>T	p.Gly289Val	p.G289V	ENST00000304801	1/1	253	218	35	218	217	1	strelka-varscan	PGK2,missense_variant,p.Gly289Val,ENST00000304801,NM_138733.4;	A	ENST00000304801	Transcript	missense_variant	986/1657	866/1254	289/417	G/V	gGg/gTg		1		-1	PGK2	HGNC	HGNC:8898	protein_coding	YES	CCDS4930.1	ENSP00000305995	P07205	A0A140VJR3	UPI0000001C72	NM_138733.4	deleterious(0)		1/1		Gene3D:3.40.50.1270,HAMAP:MF_00145,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF10,Superfamily_domains:SSF53748																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	74	49786322	49786322	C	A	1	0	0	0	0	1	0	0	0	11880	623	22	2		2	PGK2	6	49786322	Missense_Mutation	SNP	C	C3N-01405_TP	6502071	49786322	121019657	178	24125											
EYS	0	.	GRCh38	chr6	65405329	65405329	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcttttccaaaaaagcaGagaaacacaaggttttgctg	14	11	7	9	0	1	1	0	0	1	1	3	2	3	1	2	1	3	3	2	1	5	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.901C>T	p.=	p.L301L	ENST00000370621	6/44	183	155	28	189	189	0	strelka-varscan	EYS,synonymous_variant,p.=,ENST00000503581,NM_001142800.1;EYS,synonymous_variant,p.=,ENST00000370621,NM_001292009.1;EYS,synonymous_variant,p.=,ENST00000393380,NM_001142801.1;EYS,synonymous_variant,p.=,ENST00000342421,NM_198283.1;	A	ENST00000370621	Transcript	synonymous_variant	1428/10485	901/9498	301/3165	L	Ctg/Ttg		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1			6/44		hmmpanther:PTHR24033																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	65405329	65405329	G	A	1	0	0	0	0	0	0	0	1	5200	933	33	3		3	EYS	6	65405329	Silent	SNP	G	C3N-01405_TP	15619007	65405329	105400650	179	24126											
RRAGD	0	.	GRCh38	chr6	89372480	89372480	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaaagcaaacgagagcCaggaactttgtcacctcttt	13	9	8	11	1	2	2	1	1	1	1	2	4	2	3	2	1	4	1	2	1	3	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1008G>C	p.=	p.L336L	ENST00000369415	6/7	106	90	16	121	121	0	strelka-varscan	RRAGD,synonymous_variant,p.=,ENST00000369415,NM_021244.4;RRAGD,synonymous_variant,p.=,ENST00000359203,;	G	ENST00000369415	Transcript	synonymous_variant	1285/4900	1008/1203	336/400	L	ctG/ctC		1		-1	RRAGD	HGNC	HGNC:19903	protein_coding	YES	CCDS5022.1	ENSP00000358423	Q9NQL2		UPI000006E549	NM_021244.4			6/7		hmmpanther:PTHR11259,hmmpanther:PTHR11259:SF5																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	74	89372480	89372480	C	G	1	0	0	0	0	0	0	0	1	13929	581	21	4		4	RRAGD	6	89372480	Silent	SNP	C	C3N-01405_TP	23967151	89372480	81433499	180	24127											
GPR63	0	.	GRCh38	chr6	96799012	96799012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcaaaatcacataagcCtggtagcctggattggttgt	13	11	10	7	0	2	0	2	0	0	0	2	2	2	1	2	3	2	2	2	3	5	4	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.720G>T	p.Gln240His	p.Q240H	ENST00000229955	2/2	168	111	57	186	185	1	strelka-varscan	GPR63,missense_variant,p.Gln240His,ENST00000229955,NM_030784.3,NM_001143957.2;RP3-417O22.3,downstream_gene_variant,,ENST00000442184,;	A	ENST00000229955	Transcript	missense_variant	1066/5952	720/1260	240/419	Q/H	caG/caT		1		-1	GPR63	HGNC	HGNC:13302	protein_coding	YES	CCDS5036.1	ENSP00000229955	Q9BZJ6	A8K1C4	UPI0000037594	NM_030784.3,NM_001143957.2	tolerated(0.23)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF1,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	96799012	96799012	C	A	1	0	0	0	0	1	0	0	0	6588	680	24	2		2	GPR63	6	96799012	Missense_Mutation	SNP	C	C3N-01405_TP	7426532	96799012	74006967	181	24128											
KLHL32	0	.	GRCh38	chr6	97085342	97085342	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgaagagcagatctggcagGtaagggcgctgtgcacggtc	9	7	17	8	2	1	3	0	1	1	2	2	3	1	3	0	4	2	5	0	4	2	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.627+1G>C		p.X209_splice	ENST00000369261		98	78	20	103	103	0	strelka-varscan	KLHL32,splice_donor_variant,,ENST00000536676,NM_001286250.1;KLHL32,splice_donor_variant,,ENST00000369261,NM_001323260.1,NM_052904.3;KLHL32,splice_donor_variant,,ENST00000539200,NM_001286251.1;KLHL32,splice_donor_variant,,ENST00000620278,NM_001286254.1;KLHL32,splice_donor_variant,,ENST00000447886,;KLHL32,intron_variant,,ENST00000544166,;KLHL32,intron_variant,,ENST00000369254,;	C	ENST00000369261	Transcript	splice_donor_variant	-/3698	627/1863	209/620				1		1	KLHL32	HGNC	HGNC:21221	protein_coding	YES	CCDS5038.1	ENSP00000358265	Q96NJ5		UPI000020DFAB	NM_001323260.1,NM_052904.3				6/10																		HIGH	1	SNV	2			1										PASS		.	.												C	5	2	74	97085342	97085342	G	C	1	0	0	0	0	0	0	1	0	8251	1275	44	4		4	KLHL32	6	97085342	Splice_Site	SNP	G	C3N-01405_TP	286330	97085342	73720637	182	24129											
ENPP1	0	.	GRCh38	chr6	131852196	131852196	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaagttgggtagaagAaccatgtgagagcattaatg	16	9	13	3	0	0	4	0	2	0	4	0	6	0	4	1	1	2	3	1	1	6	3	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.578A>T	p.Glu193Val	p.E193V	ENST00000360971	5/25	249	177	72	251	251	0	strelka-varscan-mutect	ENPP1,missense_variant,p.Glu193Val,ENST00000360971,NM_006208.2;ENPP1,missense_variant,p.Glu193Val,ENST00000513998,;ENPP1,downstream_gene_variant,,ENST00000486853,;	T	ENST00000360971	Transcript	missense_variant	598/7442	578/2778	193/925	E/V	gAa/gTa		1		1	ENPP1	HGNC	HGNC:3356	protein_coding	YES	CCDS5150.2	ENSP00000354238	P22413		UPI00001303F0	NM_006208.2	deleterious(0.01)		5/25		hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF77																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	131852196	131852196	A	T	1	0	0	0	0	1	0	0	0	4974	246	9	4		4	ENPP1	6	131852196	Missense_Mutation	SNP	A	C3N-01405_TP	34766854	131852196	38953783	183	24130											
CYP2W1	0	.	GRCh38	chr7	985270	985270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccccgtgtttgtgtccCtgctgggtctcatcgatgag	4	12	14	11	2	1	1	1	1	1	0	4	3	2	2	3	2	1	2	3	2	0	1	rs769483359		C3N-01405_TP	C3N-01405_NB	C	C																c.592C>A	p.Leu198Met	p.L198M	ENST00000308919	4/9	211	137	74	154	153	1	strelka-varscan-mutect	CYP2W1,missense_variant,p.Leu142Met,ENST00000340150,;CYP2W1,missense_variant,p.Leu198Met,ENST00000308919,NM_017781.2;CYP2W1,upstream_gene_variant,,ENST00000415893,;CYP2W1,upstream_gene_variant,,ENST00000462453,;CYP2W1,upstream_gene_variant,,ENST00000468456,;	A	ENST00000308919	Transcript	missense_variant	605/2304	592/1473	198/490	L/M	Ctg/Atg	rs769483359	1		1	CYP2W1	HGNC	HGNC:20243	protein_coding	YES	CCDS5319.2	ENSP00000310149	Q8TAV3		UPI000013C59A	NM_017781.2	deleterious(0)		4/9		hmmpanther:PTHR24300:SF183,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		rs769483359	.												A	3	1	74	985270	985270	C	A	1	0	0	0	0	1	0	0	0	3979	680	24	2		2	CYP2W1	7	985270	Missense_Mutation	SNP	C	C3N-01405_TP		985270	158360703	184	24131											
VWDE	0	.	GRCh38	chr7	12370850	12370850	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcacggataaatgccccAgaagaaaaccagatctgaaa	18	5	8	10	1	2	4	1	1	1	3	2	5	2	5	3	1	3	1	3	1	6	1	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.1602T>A	p.=	p.S534S	ENST00000275358	11/29	146	91	55	115	115	0	strelka-varscan-mutect	VWDE,synonymous_variant,p.=,ENST00000275358,NM_001135924.1;VWDE,5_prime_UTR_variant,,ENST00000614403,;VWDE,missense_variant,p.Trp347Arg,ENST00000521169,;VWDE,synonymous_variant,p.=,ENST00000452576,;	T	ENST00000275358	Transcript	synonymous_variant	1791/5260	1602/4773	534/1590	S	tcT/tcA		1		-1	VWDE	HGNC	HGNC:21897	protein_coding	YES	CCDS47544.1	ENSP00000275358	Q8N2E2		UPI00006C0B98	NM_001135924.1			11/29		PROSITE_profiles:PS51233,Pfam_domain:PF00094,SMART_domains:SM00216																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	74	12370850	12370850	A	T	1	0	0	0	0	0	0	0	1	17805	175	7	4		4	VWDE	7	12370850	Silent	SNP	A	C3N-01405_TP	11385580	12370850	146975123	185	24132											
POU6F2	0	.	GRCh38	chr7	39433272	39433272	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcacgctgtcacccatcaagCccggccagcaggtaaatgtt	10	8	9	14	2	3	0	3	0	0	0	3	0	3	0	3	2	2	4	3	2	3	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1222C>G	p.Pro408Ala	p.P408A	ENST00000403058	8/11	146	88	58	96	96	0	strelka-varscan	POU6F2,missense_variant,p.Pro408Ala,ENST00000518318,NM_001166018.1;POU6F2,missense_variant,p.Pro353Ala,ENST00000559001,;POU6F2,missense_variant,p.Pro408Ala,ENST00000403058,NM_007252.3;POU6F2,missense_variant,p.Pro353Ala,ENST00000524147,;POU6F2,missense_variant,p.Pro400Ala,ENST00000520104,;POU6F2,missense_variant,p.Pro107Ala,ENST00000416452,;	G	ENST00000403058	Transcript	missense_variant	1376/2335	1222/2076	408/691	P/A	Ccc/Gcc		1		1	POU6F2	HGNC	HGNC:21694	protein_coding	YES	CCDS34620.2	ENSP00000384004	P78424		UPI0000480E81	NM_007252.3	tolerated(0.06)		8/11		hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF68																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	74	39433272	39433272	C	G	1	0	0	0	0	1	0	0	0	12401	739	26	4		4	POU6F2	7	39433272	Missense_Mutation	SNP	C	C3N-01405_TP	27062422	39433272	119912701	186	24133											
GCK	0	.	GRCh38	chr7	44145709	44145709	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctcaggatgttgtagatCtgcttgcggtcgcccgtgtc	4	13	14	10	3	2	1	1	0	1	1	4	2	2	2	1	2	3	4	1	2	1	3	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1044G>C	p.Gln348His	p.Q348H	ENST00000345378	9/10	309	259	50	198	198	0	strelka-varscan-mutect	GCK,missense_variant,p.Gln347His,ENST00000403799,NM_000162.3;GCK,missense_variant,p.Gln346His,ENST00000395796,NM_033508.1;GCK,missense_variant,p.Gln348His,ENST00000345378,NM_033507.1;GCK,missense_variant,p.Gln346His,ENST00000616242,;GCK,missense_variant,p.Gln330His,ENST00000437084,;GCK,missense_variant,p.Gln31His,ENST00000336642,;MYL7,upstream_gene_variant,,ENST00000458240,;MYL7,upstream_gene_variant,,ENST00000457314,;MYL7,upstream_gene_variant,,ENST00000223364,NM_021223.2;MYL7,upstream_gene_variant,,ENST00000447951,;MYL7,upstream_gene_variant,,ENST00000431007,;GCK,non_coding_transcript_exon_variant,,ENST00000473353,;MYL7,upstream_gene_variant,,ENST00000434895,;GCK,non_coding_transcript_exon_variant,,ENST00000459642,;MYL7,upstream_gene_variant,,ENST00000457910,;MYL7,upstream_gene_variant,,ENST00000431289,;	G	ENST00000345378	Transcript	missense_variant	1206/2421	1044/1401	348/466	Q/H	caG/caC		1		-1	GCK	HGNC	HGNC:4195	protein_coding	YES	CCDS5480.1	ENSP00000223366	P35557		UPI000002AB76	NM_033507.1	deleterious(0.02)		9/10		Gene3D:3.40.367.20,Pfam_domain:PF03727,PROSITE_profiles:PS51748,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF3,Superfamily_domains:SSF53067																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	74	44145709	44145709	C	G	1	0	0	0	0	1	0	0	0	6163	912	32	4		4	GCK	7	44145709	Missense_Mutation	SNP	C	C3N-01405_TP	4712437	44145709	115200264	187	24134											
NACAD	0	.	GRCh38	chr7	45084326	45084326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtggctgcagccacaggCtttggggctgatgagagatc	8	9	15	9	1	0	3	0	2	0	1	2	4	0	3	1	4	2	4	1	4	0	1	rs377425677		C3N-01405_TP	C3N-01405_NB	C	C																c.1854G>A	p.=	p.K618K	ENST00000490531	2/8	280	263	17	180	177	3	varscan-mutect	NACAD,synonymous_variant,p.=,ENST00000490531,NM_001146334.1;NACAD,upstream_gene_variant,,ENST00000460409,;	T	ENST00000490531	Transcript	synonymous_variant	1874/4780	1854/4689	618/1562	K	aaG/aaA	rs377425677	1		-1	NACAD	HGNC	HGNC:22196	protein_coding	YES	CCDS47582.1	ENSP00000420477	O15069		UPI00001D747D	NM_001146334.1			2/8		hmmpanther:PTHR21713:SF1,hmmpanther:PTHR21713																	LOW	1	SNV	5			1										PASS		rs377425677	.												T	2	4	74	45084326	45084326	C	T	1	0	0	0	0	0	0	0	1	10141	796	28	3		3	NACAD	7	45084326	Silent	SNP	C	C3N-01405_TP	938617	45084326	114261647	188	24135											
MAGI2	0	.	GRCh38	chr7	78256506	78256506	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactctgaccaataggaacaGactggaaaagtttgacaaca	17	7	8	9	0	1	3	0	2	1	1	1	5	1	5	1	2	2	1	1	2	6	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1484C>G	p.Ser495Cys	p.S495C	ENST00000354212	10/22	404	359	45	272	272	0	strelka-varscan	MAGI2,missense_variant,p.Ser495Cys,ENST00000354212,NM_012301.3;MAGI2,missense_variant,p.Ser495Cys,ENST00000419488,NM_001301128.1;MAGI2,missense_variant,p.Ser332Cys,ENST00000629359,;MAGI2,missense_variant,p.Ser357Cys,ENST00000628980,;MAGI2,missense_variant,p.Ser357Cys,ENST00000535697,;MAGI2,missense_variant,p.Ser495Cys,ENST00000637441,;MAGI2,missense_variant,p.Ser185Cys,ENST00000636039,;MAGI2,missense_variant,p.Ser495Cys,ENST00000522391,;MAGI2,missense_variant,p.Ser332Cys,ENST00000626691,;MAGI2,missense_variant,p.Ser104Cys,ENST00000519748,;MAGI2,missense_variant,p.Ser104Cys,ENST00000637282,;MAGI2,missense_variant,p.Ser272Cys,ENST00000630991,;MAGI2,missense_variant,p.Ser185Cys,ENST00000636178,;MAGI2,missense_variant,p.Ser332Cys,ENST00000628781,;MAGI2,missense_variant,p.Ser327Cys,ENST00000636717,;MAGI2,downstream_gene_variant,,ENST00000636593,;MAGI2,downstream_gene_variant,,ENST00000636936,;MAGI2,missense_variant,p.Ser332Cys,ENST00000637486,;MAGI2,non_coding_transcript_exon_variant,,ENST00000520379,;	C	ENST00000354212	Transcript	missense_variant	1738/6880	1484/4368	495/1455	S/C	tCt/tGt		1		-1	MAGI2	HGNC	HGNC:18957	protein_coding	YES	CCDS5594.1	ENSP00000346151	Q86UL8		UPI00001615D2	NM_012301.3	deleterious(0.03)		10/22		PROSITE_profiles:PS50106,hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF27,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	74	78256506	78256506	G	C	1	0	0	0	0	1	0	0	0	9109	942	33	4		4	MAGI2	7	78256506	Missense_Mutation	SNP	G	C3N-01405_TP	33172180	78256506	81089467	189	24136											
HGF	0	.	GRCh38	chr7	81752145	81752145	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacactgaggaatgtcacaGacttcgtagcgtacctctgg	11	9	11	10	2	2	2	1	1	1	1	3	4	2	3	1	2	3	2	1	2	4	3			C3N-01405_TP	C3N-01405_NB	G	G																c.600C>A	p.=	p.V200V	ENST00000222390	5/18	252	197	55	245	245	0	strelka-varscan	HGF,synonymous_variant,p.=,ENST00000222390,NM_000601.4;HGF,synonymous_variant,p.=,ENST00000457544,NM_001010932.1;HGF,synonymous_variant,p.=,ENST00000423064,NM_001010934.1;HGF,synonymous_variant,p.=,ENST00000444829,NM_001010931.1;HGF,synonymous_variant,p.=,ENST00000453411,NM_001010933.1;HGF,downstream_gene_variant,,ENST00000354224,;HGF,downstream_gene_variant,,ENST00000453018,;HGF,non_coding_transcript_exon_variant,,ENST00000465234,;	T	ENST00000222390	Transcript	synonymous_variant	827/5989	600/2187	200/728	V	gtC/gtA	COSM3882619	1		-1	HGF	HGNC	HGNC:4893	protein_coding	YES	CCDS5597.1	ENSP00000222390	P14210		UPI000000D92B	NM_000601.4			5/18		PROSITE_profiles:PS50070,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152,Gene3D:2.40.20.10,Pfam_domain:PF00051,SMART_domains:SM00130,Superfamily_domains:SSF57440											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	74	81752145	81752145	G	T	1	0	0	0	0	0	0	0	1	6969	929	33	2		2	HGF	7	81752145	Silent	SNP	G	C3N-01405_TP	3495639	81752145	77593828	190	24137											
PCLO	0	.	GRCh38	chr7	82954431	82954431	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcagagggtgggacagaTgtagcactttctgaaggctc	9	10	15	7	0	2	3	1	1	1	2	3	4	2	4	0	3	1	3	0	3	2	2	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.6522A>T	p.=	p.T2174T	ENST00000333891	5/25	233	198	35	203	203	0	strelka-varscan	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	A	ENST00000333891	Transcript	synonymous_variant	6860/20329	6522/15429	2174/5142	T	acA/acT		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5			5/25		Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	74	82954431	82954431	T	A	1	0	0	0	0	0	0	0	1	11671	1451	51	4		4	PCLO	7	82954431	Silent	SNP	T	C3N-01405_TP	1202286	82954431	76391542	191	24138											
PCLO	0	.	GRCh38	chr7	82966481	82966481	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatttaaacaaagccattCttgaatctgtgggaaaaaaa	18	10	7	6	0	2	1	0	1	2	0	2	2	2	2	1	1	2	1	1	1	8	4	rs780629154		C3N-01405_TP	C3N-01405_NB	C	C																c.3307G>T	p.Glu1103Ter	p.E1103*	ENST00000333891	4/25	60	51	9	51	51	0	strelka-varscan	PCLO,stop_gained,p.Glu1103Ter,ENST00000333891,NM_033026.5;PCLO,stop_gained,p.Glu1103Ter,ENST00000423517,NM_014510.2;PCLO,non_coding_transcript_exon_variant,,ENST00000461143,;	A	ENST00000333891	Transcript	stop_gained	3645/20329	3307/15429	1103/5142	E/*	Gaa/Taa	rs780629154	1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5			4/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113,Gene3D:3.30.40.10,Pfam_domain:PF05715,Superfamily_domains:SSF57903																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	74	82966481	82966481	C	A	1	0	0	0	0	0	1	0	0	11671	922	32	2		2	PCLO	7	82966481	Nonsense_Mutation	SNP	C	C3N-01405_TP	12050	82966481	76379492	192	24139											
GRM3	0	.	GRCh38	chr7	86839344	86839344	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacccttggtcaaagcatcGggccgagaactctgctacat	11	8	9	13	2	2	1	1	0	1	1	3	2	2	1	2	2	4	2	2	2	3	2	rs375932723		C3N-01405_TP	C3N-01405_NB	G	G																c.1830G>T	p.=	p.S610S	ENST00000361669	4/6	300	268	32	264	263	1	strelka-varscan	GRM3,synonymous_variant,p.=,ENST00000361669,NM_000840.2;GRM3,intron_variant,,ENST00000439827,;	T	ENST00000361669	Transcript	synonymous_variant	2929/4268	1830/2640	610/879	S	tcG/tcT	rs375932723	1		1	GRM3	HGNC	HGNC:4595	protein_coding	YES	CCDS5600.1	ENSP00000355316	Q14832	A4D1D0	UPI0000153EFC	NM_000840.2			4/6		PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF107,Pfam_domain:PF00003,Prints_domain:PR00248																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	74	86839344	86839344	G	T	1	0	0	0	0	0	0	0	1	6680	1103	39	1		1	GRM3	7	86839344	Silent	SNP	G	C3N-01405_TP	3872863	86839344	72506629	193	24140											
ERVW-1	0	.	GRCh38	chr7	92469028	92469028	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatagctgctagaggtcctaAgaaggggagaatccagggca	13	7	14	7	0	0	3	0	0	0	3	2	4	2	3	2	4	2	3	2	4	6	4	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.1354T>A	p.Leu452Ile	p.L452I	ENST00000493463	1/1	233	200	33	200	199	1	strelka-varscan	ERVW-1,missense_variant,p.Leu452Ile,ENST00000493463,NM_014590.3;ERVW-1,missense_variant,p.Leu452Ile,ENST00000603053,NM_001130925.1;AC007566.10,intron_variant,,ENST00000427458,;ERVW-1,intron_variant,,ENST00000604270,;ERVW-1,intron_variant,,ENST00000603704,;	T	ENST00000493463	Transcript	missense_variant	2278/2925	1354/1617	452/538	L/I	Tta/Ata		1		-1	ERVW-1	HGNC	HGNC:13525	protein_coding	YES	CCDS5626.1	ENSP00000419945	Q9UQF0	D0EYG5	UPI00000389BB	NM_014590.3	deleterious(0.02)		1/1		Pfam_domain:PF00429,hmmpanther:PTHR10424,hmmpanther:PTHR10424:SF48,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												T	3	4	74	92469028	92469028	A	T	1	0	0	0	0	1	0	0	0	5108	69	3	4		4	ERVW-1	7	92469028	Missense_Mutation	SNP	A	C3N-01405_TP	5629684	92469028	66876945	194	24141											
TRRAP	0	.	GRCh38	chr7	99011396	99011396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgacataaacgacgcgactgGagacctggatgccaaccgtc	12	6	11	12	4	0	2	0	1	0	1	1	6	0	3	3	2	3	0	3	2	3	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.11156G>A	p.Gly3719Glu	p.G3719E	ENST00000359863	71/72	265	241	24	150	150	0	strelka-varscan	TRRAP,missense_variant,p.Gly3719Glu,ENST00000359863,NM_001244580.1;TRRAP,missense_variant,p.Gly3708Glu,ENST00000628380,;TRRAP,missense_variant,p.Gly3690Glu,ENST00000355540,NM_003496.3;TRRAP,missense_variant,p.Gly3708Glu,ENST00000446306,;TRRAP,missense_variant,p.Gly3448Glu,ENST00000456197,;AC004893.11,upstream_gene_variant,,ENST00000360902,;	A	ENST00000359863	Transcript	missense_variant	11365/12677	11156/11580	3719/3859	G/E	gGa/gAa		1		1	TRRAP	HGNC	HGNC:12347	protein_coding	YES	CCDS59066.1	ENSP00000352925	Q9Y4A5		UPI00004575B4	NM_001244580.1	tolerated(0.12)		71/72		Gene3D:1.10.1070.11,Pfam_domain:PF00454,PROSITE_profiles:PS50290,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1,SMART_domains:SM00146,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	99011396	99011396	G	A	1	0	0	0	0	1	0	0	0	17107	1174	41	3		3	TRRAP	7	99011396	Missense_Mutation	SNP	G	C3N-01405_TP	6542368	99011396	60334577	195	24142											
MUC17	0	.	GRCh38	chr7	101041412	101041412	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggtactagcatgccaacCtcaacttatagtgaaggaag	14	8	10	9	1	1	1	1	1	0	0	1	3	1	2	2	2	5	2	2	2	8	4	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.9996C>A	p.=	p.T3332T	ENST00000306151	3/13	170	148	22	173	173	0	strelka-varscan	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,synonymous_variant,p.=,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	A	ENST00000306151	Transcript	synonymous_variant	10060/14247	9996/13482	3332/4493	T	acC/acA		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1			3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	101041412	101041412	C	A	1	0	0	0	0	0	0	0	1	9973	668	24	2		2	MUC17	7	101041412	Silent	SNP	C	C3N-01405_TP	2030016	101041412	58304561	196	24143											
RELN	0	.	GRCh38	chr7	103492004	103492004	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaggtcaccacaagaaGtggcttcacaacccaccaca	16	5	7	13	0	2	2	2	1	0	1	2	2	2	2	3	2	1	1	3	2	5	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.9392C>G	p.Thr3131Ser	p.T3131S	ENST00000428762	58/65	317	280	37	342	342	0	strelka-varscan	RELN,missense_variant,p.Thr3131Ser,ENST00000424685,;RELN,missense_variant,p.Thr3131Ser,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Thr3131Ser,ENST00000343529,NM_173054.2;CTB-107G13.1,intron_variant,,ENST00000422488,;	C	ENST00000428762	Transcript	missense_variant	9552/11571	9392/10383	3131/3460	T/S	aCt/aGt		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3	tolerated(0.87)		58/65		hmmpanther:PTHR11841																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	74	103492004	103492004	G	C	1	0	0	0	0	1	0	0	0	13390	1029	36	4		4	RELN	7	103492004	Missense_Mutation	SNP	G	C3N-01405_TP	2450592	103492004	55853969	197	24144											
PUS7	0	.	GRCh38	chr7	105470824	105470824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttgcccattcttctctgCatttaaccaagtagcccttt	7	17	4	13	0	3	0	0	0	3	0	4	0	3	0	3	0	4	2	3	0	3	7	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1262G>T	p.Cys421Phe	p.C421F	ENST00000356362	11/16	64	43	21	45	45	0	strelka-varscan	PUS7,missense_variant,p.Cys421Phe,ENST00000356362,NM_001318163.1,NM_001318164.1,NM_019042.3;PUS7,missense_variant,p.Cys421Phe,ENST00000469408,;PUS7,missense_variant,p.Cys421Phe,ENST00000481939,;PUS7,non_coding_transcript_exon_variant,,ENST00000478208,;	A	ENST00000356362	Transcript	missense_variant	1477/3480	1262/1986	421/661	C/F	tGc/tTc		1		-1	PUS7	HGNC	HGNC:26033	protein_coding	YES	CCDS34725.1	ENSP00000348722	Q96PZ0		UPI00001D483E	NM_001318163.1,NM_001318164.1,NM_019042.3	deleterious(0.05)		11/16		Pfam_domain:PF01142,PROSITE_profiles:PS50984,hmmpanther:PTHR13326,hmmpanther:PTHR13326:SF1,TIGRFAM_domain:TIGR00094																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	74	105470824	105470824	C	A	1	0	0	0	0	1	0	0	0	12991	710	25	2		2	PUS7	7	105470824	Missense_Mutation	SNP	C	C3N-01405_TP	1978820	105470824	53875149	198	24145											
CPED1	0	.	GRCh38	chr7	121130217	121130217	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcctggctcagtcctgacCcaatactggtctcttttaaa	10	13	6	12	0	2	1	1	1	1	0	5	1	4	1	3	2	1	1	3	2	5	3	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1500C>A	p.=	p.T500T	ENST00000310396	12/23	258	226	32	224	224	0	strelka-varscan	CPED1,synonymous_variant,p.=,ENST00000310396,NM_024913.4;CPED1,synonymous_variant,p.=,ENST00000450913,NM_001105533.1;CPED1,synonymous_variant,p.=,ENST00000428526,;CPED1,synonymous_variant,p.=,ENST00000423795,;CPED1,synonymous_variant,p.=,ENST00000443817,;	A	ENST00000310396	Transcript	synonymous_variant	1967/5340	1500/3081	500/1026	T	acC/acA		1		1	CPED1	HGNC	HGNC:26159	protein_coding	YES	CCDS34739.1	ENSP00000309772	A4D0V7		UPI000013C813	NM_024913.4			12/23		hmmpanther:PTHR14776																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	121130217	121130217	C	A	1	0	0	0	0	0	0	0	1	3598	610	22	2		2	CPED1	7	121130217	Silent	SNP	C	C3N-01405_TP	15659393	121130217	38215756	199	24146											
CPED1	0	.	GRCh38	chr7	121141987	121141987	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctttgccagctaccCtctgggcttaggaatgaaca	9	10	9	13	0	1	1	0	1	1	0	2	2	2	2	3	2	5	3	3	2	4	3	rs750206720		C3N-01405_TP	C3N-01405_NB	C	C																c.1901C>A	p.Pro634His	p.P634H	ENST00000310396	16/23	89	78	11	62	62	0	strelka-varscan	CPED1,missense_variant,p.Pro634His,ENST00000310396,NM_024913.4;CPED1,missense_variant,p.Pro634His,ENST00000450913,NM_001105533.1;CPED1,missense_variant,p.Pro414His,ENST00000423795,;	A	ENST00000310396	Transcript	missense_variant	2368/5340	1901/3081	634/1026	P/H	cCt/cAt	rs750206720	1		1	CPED1	HGNC	HGNC:26159	protein_coding	YES	CCDS34739.1	ENSP00000309772	A4D0V7		UPI000013C813	NM_024913.4	deleterious(0)		16/23		Pfam_domain:PF12733,hmmpanther:PTHR14776																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	121141987	121141987	C	A	1	0	0	0	0	1	0	0	0	3598	681	24	2		2	CPED1	7	121141987	Missense_Mutation	SNP	C	C3N-01405_TP	11770	121141987	38203986	200	24147											
GRM8	0	.	GRCh38	chr7	126902615	126902615	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaaattctcctcccagaaTtctgcaaaccacacatttct	13	11	2	15	0	3	1	0	0	3	1	5	1	4	1	4	0	2	1	4	0	4	3	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.1083A>T	p.Glu361Asp	p.E361D	ENST00000339582	6/11	135	113	22	117	117	0	strelka-varscan	GRM8,missense_variant,p.Glu361Asp,ENST00000339582,NM_000845.2;GRM8,missense_variant,p.Glu361Asp,ENST00000358373,NM_001127323.1;GRM8,downstream_gene_variant,,ENST00000457830,;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,non_coding_transcript_exon_variant,,ENST00000448250,;GRM8,missense_variant,p.Glu361Asp,ENST00000472701,;GRM8,missense_variant,p.Glu361Asp,ENST00000341617,;	A	ENST00000339582	Transcript	missense_variant	1892/4057	1083/2727	361/908	E/D	gaA/gaT		1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2	tolerated(0.09)		6/11		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Superfamily_domains:SSF53822																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	74	126902615	126902615	T	A	1	0	0	0	0	1	0	0	0	6685	1490	52	4		4	GRM8	7	126902615	Missense_Mutation	SNP	T	C3N-01405_TP	5760628	126902615	32443358	201	24148											
PAX4	0	.	GRCh38	chr7	127613807	127613807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagatagtccgattccggtGgccggtccctgggtgggtac	6	9	16	10	3	0	1	0	0	0	1	3	3	3	1	4	5	1	1	4	5	3	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.487C>A	p.His163Asn	p.H163N	ENST00000341640	4/9	248	206	42	190	190	0	strelka-varscan	PAX4,missense_variant,p.His163Asn,ENST00000341640,NM_006193.2;PAX4,missense_variant,p.His161Asn,ENST00000463946,;PAX4,missense_variant,p.His161Asn,ENST00000611453,;PAX4,missense_variant,p.His163Asn,ENST00000378740,;PAX4,missense_variant,p.His171Asn,ENST00000338516,;PAX4,missense_variant,p.His161Asn,ENST00000483494,;PAX4,non_coding_transcript_exon_variant,,ENST00000477423,;	T	ENST00000341640	Transcript	missense_variant	693/2010	487/1032	163/343	H/N	Cac/Aac		1		-1	PAX4	HGNC	HGNC:8618	protein_coding	YES	CCDS5797.1	ENSP00000339906	O43316		UPI000013C824	NM_006193.2	tolerated(0.05)		4/9		PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF14,hmmpanther:PTHR24329,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	127613807	127613807	G	T	1	0	0	0	0	1	0	0	0	11566	1348	47	2		2	PAX4	7	127613807	Missense_Mutation	SNP	G	C3N-01405_TP	711192	127613807	31732166	202	24149											
KLHDC10	0	.	GRCh38	chr7	130125868	130125868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttttttctccaagatcCatgcatacaaccttgaaacg	11	15	4	11	1	2	2	0	1	2	1	4	2	3	2	3	0	4	1	3	0	4	6	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.868C>T	p.His290Tyr	p.H290Y	ENST00000335420	7/10	221	174	47	213	213	0	strelka-varscan	KLHDC10,missense_variant,p.His290Tyr,ENST00000335420,NM_014997.3;KLHDC10,downstream_gene_variant,,ENST00000468226,;	T	ENST00000335420	Transcript	missense_variant	1002/6437	868/1329	290/442	H/Y	Cat/Tat		1		1	KLHDC10	HGNC	HGNC:22194	protein_coding	YES	CCDS5815.1	ENSP00000334140	Q6PID8		UPI0000160705	NM_014997.3	tolerated(0.13)		7/10		Superfamily_domains:0052715,Gene3D:1zgkA00,Pfam_domain:PF01344,hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF306,SMART_domains:SM00612,Superfamily_domains:SSF101898																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	130125868	130125868	C	T	1	0	0	0	0	1	0	0	0	8220	608	21	3		3	KLHDC10	7	130125868	Missense_Mutation	SNP	C	C3N-01405_TP	2512061	130125868	29220105	203	24150											
COPG2	0	.	GRCh38	chr7	130610978	130610978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagtttcttttagtaagcGactggcaattcggatcagca	10	13	9	9	2	3	0	2	0	1	0	4	2	3	1	0	2	2	4	0	2	3	5	rs782715453		C3N-01405_TP	C3N-01405_NB	G	G																c.712C>T	p.Arg238Cys	p.R238C	ENST00000425248	9/24	192	146	46	178	178	0	strelka-varscan	COPG2,missense_variant,p.Arg238Cys,ENST00000425248,NM_012133.5;COPG2,missense_variant,p.Arg238Cys,ENST00000330992,NM_001290033.1;	A	ENST00000425248	Transcript	missense_variant	792/3134	712/2616	238/871	R/C	Cgc/Tgc	rs782715453	1		-1	COPG2	HGNC	HGNC:2237	protein_coding	YES	CCDS75662.1	ENSP00000402346	Q9UBF2	A0A140VK12	UPI0000000960	NM_012133.5	deleterious(0)		9/24		hmmpanther:PTHR10261:SF4,hmmpanther:PTHR10261,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037093,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	130610978	130610978	G	A	1	0	0	0	0	1	0	0	0	3524	1058	37	1		1	COPG2	7	130610978	Missense_Mutation	SNP	G	C3N-01405_TP	485110	130610978	28734995	204	24151											
NUP205	0	.	GRCh38	chr7	135587870	135587871	+	Frame_Shift_Del	DEL	AA	AA	-																															tgcagattggcgagctatatAaaaagaacccttttcatctg																								novel		C3N-01405_TP	C3N-01405_NB	AA	AA																c.1354_1355delAA	p.Lys452GlufsTer47	p.K452Efs*47	ENST00000285968	10/43	87	70	17	74	74	0	sindel-varindel-pindel	NUP205,frameshift_variant,p.Lys452GlufsTer47,ENST00000285968,NM_015135.2;	-	ENST00000285968	Transcript	frameshift_variant	1377-1378/6266	1351-1352/6039	451/2012	K/X	AAa/a		1		1	NUP205	HGNC	HGNC:18658	protein_coding	YES	CCDS34759.1	ENSP00000285968	Q92621		UPI00001D74D8	NM_015135.2			10/43		Pfam_domain:PF11894,hmmpanther:PTHR31344,hmmpanther:PTHR31344:SF0																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	74	135587870	135587870	AA	-	1	0	1	0	1	0	0	0	0	10824	363	13	0		0	NUP205	7	135587870	Frame_Shift_Del	DEL	AA	C3N-01405_TP	4976892	135587870	23758103	205	24152											
MGAM	0	.	GRCh38	chr7	142056051	142056051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actacatggggctggaggagGacggcagtgcccatggagtg	9	6	18	8	1	0	0	0	0	0	0	0	4	0	4	1	7	2	2	1	7	1	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.3535G>T	p.Asp1179Tyr	p.D1179Y	ENST00000549489	29/48	294	264	30	255	255	0	strelka-varscan	MGAM,missense_variant,p.Asp1179Tyr,ENST00000475668,;MGAM,missense_variant,p.Asp1179Tyr,ENST00000549489,NM_004668.2;MGAM,missense_variant,p.Asp1179Tyr,ENST00000620571,;	T	ENST00000549489	Transcript	missense_variant	3630/6525	3535/5574	1179/1857	D/Y	Gac/Tac		1		1	MGAM	HGNC	HGNC:7043	protein_coding	YES	CCDS47727.1	ENSP00000447378	O43451		UPI000183CB7B	NM_004668.2	deleterious(0)		29/48		Superfamily_domains:SSF74650																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	142056051	142056051	G	T	1	0	0	0	0	1	0	0	0	9499	1174	41	2		2	MGAM	7	142056051	Missense_Mutation	SNP	G	C3N-01405_TP	6468181	142056051	17289922	206	24153											
MGAM2	0	.	GRCh38	chr7	142140832	142140832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actctgacatagactacatgGatggaaagaaggatttcact	15	10	9	7	0	2	3	1	1	1	2	2	6	2	6	0	3	1	0	0	3	4	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1117G>T	p.Asp373Tyr	p.D373Y	ENST00000477922	11/48	166	136	30	173	173	0	strelka-varscan	MGAM2,missense_variant,p.Asp373Tyr,ENST00000477922,NM_001293626.1;MGAM2,missense_variant,p.Asp373Tyr,ENST00000550469,;	T	ENST00000477922	Transcript	missense_variant	1171/7867	1117/7548	373/2515	D/Y	Gat/Tat		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	deleterious(0)		11/48		Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF55,Superfamily_domains:SSF51445																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	74	142140832	142140832	G	T	1	0	0	0	0	1	0	0	0	9500	1174	41	2		2	MGAM2	7	142140832	Missense_Mutation	SNP	G	C3N-01405_TP	84781	142140832	17205141	207	24154											
NOBOX	0	.	GRCh38	chr7	144398553	144398553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcctggggctccagctcCtccaaatatgaacagggggg	10	8	12	11	0	0	1	0	1	0	0	4	1	4	1	4	5	2	2	4	5	4	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1503G>T	p.Glu501Asp	p.E501D	ENST00000467773	9/10	114	101	13	76	76	0	strelka-varscan	NOBOX,missense_variant,p.Glu501Asp,ENST00000467773,NM_001080413.3;NOBOX,missense_variant,p.Glu469Asp,ENST00000483238,;	A	ENST00000467773	Transcript	missense_variant	1503/2076	1503/2076	501/691	E/D	gaG/gaT		1		-1	NOBOX	HGNC	HGNC:22448	protein_coding	YES		ENSP00000419457	O60393		UPI00019B220B	NM_001080413.3	deleterious(0.04)		9/10																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	74	144398553	144398553	C	A	1	0	0	0	0	1	0	0	0	10554	680	24	2		2	NOBOX	7	144398553	Missense_Mutation	SNP	C	C3N-01405_TP	2257721	144398553	14947420	208	24155											
SSPO	0	.	GRCh38	chr7	149827805	149827805	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtggcagcaggtggccccGggggagctggggctctgcga	5	5	20	11	3	1	0	0	0	1	0	1	2	1	1	2	7	3	4	2	7	0	0	rs780559328		C3N-01405_TP	C3N-01405_NB	G	G																c.14811G>T	p.=	p.P4937P	ENST00000378016	102/107	65	51	14	44	44	0	strelka-varscan	SSPO,synonymous_variant,p.=,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,non_coding_transcript_exon_variant,,ENST00000492965,;SSPO,non_coding_transcript_exon_variant,,ENST00000488835,;SSPO,non_coding_transcript_exon_variant,,ENST00000461331,;SSPO,non_coding_transcript_exon_variant,,ENST00000465639,;SSPO,non_coding_transcript_exon_variant,,ENST00000472850,;	T	ENST00000378016	Transcript	synonymous_variant	14811/15589	14811/15453	4937/5150	P	ccG/ccT	rs780559328	1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2			102/107		Gene3D:2.10.25.10,Superfamily_domains:SSF57567																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	74	149827805	149827805	G	T	1	0	0	0	0	0	0	0	1	15566	1103	39	1		1	SSPO	7	149827805	Silent	SNP	G	C3N-01405_TP	5429252	149827805	9518168	209	24156											
ATG9B	0	.	GRCh38	chr7	151017116	151017116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccaggcagctgcatcttGttgtactcggccccagaggt	7	9	11	14	1	1	1	0	0	1	1	2	1	1	1	4	3	3	5	4	3	1	3	rs534489154		C3N-01405_TP	C3N-01405_NB	G	G																c.2209C>A	p.Gln737Lys	p.Q737K	ENST00000605952	9/17	167	151	16	161	161	0	strelka-varscan	ATG9B,missense_variant,p.Gln737Lys,ENST00000469530,NM_173681.5;NOS3,downstream_gene_variant,,ENST00000297494,NM_000603.4;NOS3,downstream_gene_variant,,ENST00000461406,;ATG9B,non_coding_transcript_exon_variant,,ENST00000617967,;ATG9B,non_coding_transcript_exon_variant,,ENST00000611177,;ATG9B,downstream_gene_variant,,ENST00000473409,;NOS3,downstream_gene_variant,,ENST00000477227,;NOS3,downstream_gene_variant,,ENST00000468293,;ATG9B,upstream_gene_variant,,ENST00000476282,;ATG9B,downstream_gene_variant,,ENST00000466157,;ATG9B,upstream_gene_variant,,ENST00000498521,;ATG9B,missense_variant,p.Gln737Lys,ENST00000605952,;ATG9B,upstream_gene_variant,,ENST00000404733,;ATG9B,downstream_gene_variant,,ENST00000473134,;ATG9B,upstream_gene_variant,,ENST00000471797,;NOS3,downstream_gene_variant,,ENST00000475454,;	T	ENST00000605952	Transcript	missense_variant,NMD_transcript_variant	2285/4572	2209/2775	737/924	Q/K	Caa/Aaa	rs534489154	1		-1	ATG9B	HGNC	HGNC:21899	nonsense_mediated_decay	YES		ENSP00000475737	Q674R7		UPI00004286C0		tolerated(0.21)		9/17		hmmpanther:PTHR13038:SF14,hmmpanther:PTHR13038																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	74	151017116	151017116	G	T	1	0	0	0	0	1	0	0	0	1255	1386	48	2		2	ATG9B	7	151017116	Missense_Mutation	SNP	G	C3N-01405_TP	1189311	151017116	8328857	210	24157											
MSR1	0	.	GRCh38	chr8	16177977	16177977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttgattgtgaaagtgatcCcactgctccatacttctatg	9	15	8	9	0	1	3	0	3	1	0	3	3	3	3	2	0	2	2	2	0	3	5	rs747530059		C3N-01405_TP	C3N-01405_NB	C	C																c.12G>T	p.Trp4Cys	p.W4C	ENST00000262101	2/10	271	207	64	293	293	0	strelka-varscan-mutect	MSR1,missense_variant,p.Trp4Cys,ENST00000350896,NM_138716.2;MSR1,missense_variant,p.Trp4Cys,ENST00000381998,NM_002445.3;MSR1,missense_variant,p.Trp4Cys,ENST00000262101,NM_138715.2;MSR1,missense_variant,p.Trp22Cys,ENST00000445506,;MSR1,missense_variant,p.Trp4Cys,ENST00000355282,;MSR1,missense_variant,p.Trp15Cys,ENST00000518026,;MSR1,missense_variant,p.Trp4Cys,ENST00000518960,;MSR1,missense_variant,p.Trp4Cys,ENST00000519060,;	A	ENST00000262101	Transcript	missense_variant	134/2132	12/1356	4/451	W/C	tgG/tgT	rs747530059	1		-1	MSR1	HGNC	HGNC:7376	protein_coding	YES	CCDS5995.1	ENSP00000262101	P21757		UPI000012F686	NM_138715.2	deleterious(0.04)		2/10																			MODERATE	1	SNV	1			1										PASS		rs747530059	.												A	3	1	74	16177977	16177977	C	A	1	0	0	0	0	1	0	0	0	9869	624	22	2		2	MSR1	8	16177977	Missense_Mutation	SNP	C	C3N-01405_TP		16177977	128960659	211	24158											
GFRA2	0	.	GRCh38	chr8	21705089	21705089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggacaccacgatgccagtgGggctggagtccacatagtta	10	7	14	10	1	0	0	0	0	0	0	1	3	1	2	3	4	1	2	3	4	2	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.941C>A	p.Pro314His	p.P314H	ENST00000524240	6/9	160	109	51	130	129	1	strelka-varscan-mutect	GFRA2,missense_variant,p.Pro314His,ENST00000524240,NM_001495.4;GFRA2,missense_variant,p.Pro314His,ENST00000517328,;GFRA2,missense_variant,p.Pro181His,ENST00000518077,NM_001165039.1;GFRA2,missense_variant,p.Pro209His,ENST00000517892,NM_001165038.1;GFRA2,3_prime_UTR_variant,,ENST00000306793,;	T	ENST00000524240	Transcript	missense_variant	1592/4921	941/1395	314/464	P/H	cCc/cAc		1		-1	GFRA2	HGNC	HGNC:4244	protein_coding	YES	CCDS47816.1	ENSP00000428518	O00451		UPI000000D9B1	NM_001495.4	tolerated(0.57)		6/9		hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF4,PIRSF_domain:PIRSF038071,Pfam_domain:PF02351,SMART_domains:SM00907,Superfamily_domains:0042655																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	21705089	21705089	G	T	1	0	0	0	0	1	0	0	0	6222	1232	43	2		2	GFRA2	8	21705089	Missense_Mutation	SNP	G	C3N-01405_TP	5527112	21705089	123433547	212	24159											
TEX15	0	.	GRCh38	chr8	30846178	30846178	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatgagtcttgactggttAgcctcctctttctcccataa	8	14	7	12	0	3	3	0	2	3	1	5	3	4	3	3	1	1	1	3	1	2	4	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.2840T>A	p.Leu947Gln	p.L947Q	ENST00000256246	1/4	125	92	33	139	139	0	strelka-varscan-mutect	TEX15,missense_variant,p.Leu947Gln,ENST00000256246,NM_031271.3;TEX15,downstream_gene_variant,,ENST00000523186,;	T	ENST00000256246	Transcript	missense_variant	2915/10187	2840/8370	947/2789	L/Q	cTa/cAa		1		-1	TEX15	HGNC	HGNC:11738	protein_coding	YES	CCDS6080.1	ENSP00000256246	Q9BXT5		UPI000013CEF9	NM_031271.3	deleterious(0.01)		1/4		hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	30846178	30846178	A	T	1	0	0	0	0	1	0	0	0	16201	420	15	4		4	TEX15	8	30846178	Missense_Mutation	SNP	A	C3N-01405_TP	9141089	30846178	114292458	213	24160											
TACC1	0	.	GRCh38	chr8	38787644	38787644	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaaatggacgtggtctgCggtacgcggcggggccgccg	5	5	20	11	8	1	0	0	0	1	0	1	2	1	1	2	7	2	1	2	7	2	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.62C>A	p.Ala21Glu	p.A21E	ENST00000317827	1/13	115	102	13	97	97	0	strelka-varscan-mutect	TACC1,missense_variant,p.Ala21Glu,ENST00000317827,NM_006283.2;TACC1,missense_variant,p.Ala21Glu,ENST00000276520,NM_001122824.1;TACC1,missense_variant,p.Ala21Glu,ENST00000524354,;TACC1,intron_variant,,ENST00000519416,;TACC1,intron_variant,,ENST00000520615,NM_001146216.2;TACC1,intron_variant,,ENST00000518415,;TACC1,intron_variant,,ENST00000520340,;TACC1,intron_variant,,ENST00000522904,;TACC1,intron_variant,,ENST00000521642,;TACC1,intron_variant,,ENST00000521050,;TACC1,upstream_gene_variant,,ENST00000520973,;TACC1,upstream_gene_variant,,ENST00000521935,;TACC1,upstream_gene_variant,,ENST00000521528,;TACC1,intron_variant,,ENST00000522752,;TACC1,intron_variant,,ENST00000523239,;TACC1,intron_variant,,ENST00000522544,;TACC1,upstream_gene_variant,,ENST00000523834,;TACC1,upstream_gene_variant,,ENST00000521154,;	A	ENST00000317827	Transcript	missense_variant	441/7802	62/2418	21/805	A/E	gCg/gAg		1		1	TACC1	HGNC	HGNC:11522	protein_coding	YES	CCDS6109.1	ENSP00000321703	O75410		UPI000013DACE	NM_006283.2	deleterious(0)		1/13		hmmpanther:PTHR13924																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	38787644	38787644	C	A	1	0	0	0	0	1	0	0	0	15897	768	27	1		1	TACC1	8	38787644	Missense_Mutation	SNP	C	C3N-01405_TP	7941466	38787644	106350992	214	24161											
HGSNAT	0	.	GRCh38	chr8	43199568	43199568	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagattttttggaaaatctGatggctcccactgagatgtg	11	13	11	6	0	1	3	0	2	1	2	2	6	2	4	1	2	0	1	1	2	3	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1907G>C	p.Ter636SerextTer12	p.*636Sext*12	ENST00000379644	18/18	31	23	8	30	30	0	strelka-varscan-mutect	HGSNAT,stop_lost,p.Ter636SerextTer12,ENST00000379644,NM_152419.2;HGSNAT,stop_lost,p.Ter353SerextTer12,ENST00000521576,;HGSNAT,downstream_gene_variant,,ENST00000524016,;HGSNAT,non_coding_transcript_exon_variant,,ENST00000519705,;HGSNAT,downstream_gene_variant,,ENST00000523989,;	C	ENST00000379644	Transcript	stop_lost	1949/5236	1907/1908	636/635	*/S	tGa/tCa		1		1	HGSNAT	HGNC	HGNC:26527	protein_coding	YES	CCDS47852.1	ENSP00000368965	Q68CP4		UPI000057A06E	NM_152419.2			18/18																			HIGH	1	SNV	2			1										PASS		.	.												C	4	2	74	43199568	43199568	G	C	1	0	0	0	0	0	0	0	0	6973	1285	45	4		4	HGSNAT	8	43199568	Nonstop_Mutation	SNP	G	C3N-01405_TP	4411924	43199568	101939068	215	24162											
ARFGEF1	0	.	GRCh38	chr8	67216650	67216650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttctccagaattgggtcgCcaggtcaacagcctttaaga	10	11	10	10	1	2	2	1	0	1	2	4	2	2	2	3	2	2	1	3	2	3	4	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.4626G>T	p.Trp1542Cys	p.W1542C	ENST00000262215	33/39	161	139	22	87	87	0	strelka-varscan-mutect	ARFGEF1,missense_variant,p.Trp1542Cys,ENST00000262215,NM_006421.4;ARFGEF1,missense_variant,p.Trp1021Cys,ENST00000520381,;ARFGEF1,missense_variant,p.Trp503Cys,ENST00000518230,;	A	ENST00000262215	Transcript	missense_variant	5016/7225	4626/5550	1542/1849	W/C	tgG/tgT		1		-1	ARFGEF1	HGNC	HGNC:15772	protein_coding	YES	CCDS6199.1	ENSP00000262215	Q9Y6D6	A0A024R7X0	UPI000013D275	NM_006421.4	deleterious(0)		33/39		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	67216650	67216650	C	A	1	0	0	0	0	1	0	0	0	975	740	26	2		2	ARFGEF1	8	67216650	Missense_Mutation	SNP	C	C3N-01405_TP	24017082	67216650	77921986	216	24163											
SULF1	0	.	GRCh38	chr8	69603247	69603247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacgatcctggatattgctGggctcgacacacctcctgat	8	10	9	14	2	0	1	0	1	0	0	3	4	2	2	4	2	1	2	4	2	1	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1117G>T	p.Gly373Trp	p.G373W	ENST00000260128	11/23	296	184	112	194	193	1	strelka-varscan-mutect	SULF1,missense_variant,p.Gly373Trp,ENST00000260128,NM_015170.2;SULF1,missense_variant,p.Gly373Trp,ENST00000458141,NM_001128204.1;SULF1,missense_variant,p.Gly373Trp,ENST00000402687,NM_001128205.1;SULF1,missense_variant,p.Gly373Trp,ENST00000419716,NM_001128206.1;SULF1,missense_variant,p.Gly157Trp,ENST00000616868,;SULF1,non_coding_transcript_exon_variant,,ENST00000521946,;	T	ENST00000260128	Transcript	missense_variant	1834/5710	1117/2616	373/871	G/W	Ggg/Tgg		1		1	SULF1	HGNC	HGNC:20391	protein_coding	YES	CCDS6204.1	ENSP00000260128	Q8IWU6	A0A024R809	UPI000003FD82	NM_015170.2	deleterious(0)		11/23		hmmpanther:PTHR10342:SF210,hmmpanther:PTHR10342,PIRSF_domain:PIRSF036665,Gene3D:3.40.720.10,Pfam_domain:PF00884,Superfamily_domains:SSF53649																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	74	69603247	69603247	G	T	1	0	0	0	0	1	0	0	0	15758	1348	47	2		2	SULF1	8	69603247	Missense_Mutation	SNP	G	C3N-01405_TP	2386597	69603247	75535389	217	24164											
SLCO5A1	0	.	GRCh38	chr8	69831974	69831974	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccaccctgacacaggccgtCgttgggggccgaggcgttca	6	6	15	14	4	1	1	1	1	0	0	2	2	1	1	4	4	0	2	4	4	0	2			C3N-01405_TP	C3N-01405_NB	C	C																c.700G>C	p.Asp234His	p.D234H	ENST00000260126	2/10	118	99	19	73	73	0	strelka-varscan-mutect	SLCO5A1,missense_variant,p.Asp234His,ENST00000260126,NM_030958.2;SLCO5A1,missense_variant,p.Asp234His,ENST00000524945,NM_001146008.1;SLCO5A1,missense_variant,p.Asp234His,ENST00000530307,NM_001146009.1;RP11-159H10.3,upstream_gene_variant,,ENST00000528800,;RP11-159H10.3,upstream_gene_variant,,ENST00000501104,;RP11-159H10.3,upstream_gene_variant,,ENST00000533300,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000528658,;SLCO5A1,downstream_gene_variant,,ENST00000531422,;SLCO5A1,downstream_gene_variant,,ENST00000524703,;SLCO5A1,missense_variant,p.Asp234His,ENST00000526750,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000532388,;	G	ENST00000260126	Transcript	missense_variant	1407/9076	700/2547	234/848	D/H	Gac/Cac	COSM1101382	1		-1	SLCO5A1	HGNC	HGNC:19046	protein_coding	YES	CCDS6205.1	ENSP00000260126	Q9H2Y9		UPI0000140F53	NM_030958.2	deleterious(0.01)		2/10		PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF91,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	74	69831974	69831974	C	G	1	0	0	0	0	1	0	0	0	15018	884	31	4		4	SLCO5A1	8	69831974	Missense_Mutation	SNP	C	C3N-01405_TP	228727	69831974	75306662	218	24165											
PRDM14	0	.	GRCh38	chr8	70058683	70058683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatgaagaatgtggatcCgaagccggtcccgcttctca	11	8	11	11	3	1	2	1	1	1	1	4	5	3	3	3	2	2	1	3	2	4	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1343G>T	p.Arg448Leu	p.R448L	ENST00000276594	6/8	360	305	55	227	227	0	strelka-varscan-mutect	PRDM14,missense_variant,p.Arg448Leu,ENST00000276594,NM_024504.3;	A	ENST00000276594	Transcript	missense_variant	1545/2344	1343/1716	448/571	R/L	cGg/cTg		1		-1	PRDM14	HGNC	HGNC:14001	protein_coding	YES	CCDS6206.1	ENSP00000276594	Q9GZV8		UPI0000132186	NM_024504.3	deleterious(0)		6/8		PROSITE_profiles:PS50157,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1211840014	.												A	3	1	74	70058683	70058683	C	A	1	0	0	0	0	1	0	0	0	12586	652	23	1		1	PRDM14	8	70058683	Missense_Mutation	SNP	C	C3N-01405_TP	226709	70058683	75079953	219	24166											
KCNB2	0	.	GRCh38	chr8	72568017	72568017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgatcggcatccaggaGccttcacttccattttaaat	9	15	6	11	1	2	1	1	1	1	0	5	2	4	2	3	2	1	1	3	2	2	5	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.283G>A	p.Ala95Thr	p.A95T	ENST00000523207	2/3	325	291	34	178	178	0	strelka-varscan-mutect	KCNB2,missense_variant,p.Ala95Thr,ENST00000523207,NM_004770.2;	A	ENST00000523207	Transcript	missense_variant	871/3582	283/2736	95/911	A/T	Gcc/Acc		1		1	KCNB2	HGNC	HGNC:6232	protein_coding	YES	CCDS6209.1	ENSP00000430846	Q92953		UPI000012DC85	NM_004770.2	tolerated(0.09)		2/3		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF134,Gene3D:3.30.710.10,Pfam_domain:PF02214,SMART_domains:SM00225,Superfamily_domains:SSF54695,Prints_domain:PR01491,Prints_domain:PR00169																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	72568017	72568017	G	A	1	0	0	0	0	1	0	0	0	7929	971	34	3		3	KCNB2	8	72568017	Missense_Mutation	SNP	G	C3N-01405_TP	2509334	72568017	72570619	220	24167											
KIAA1429	0	.	GRCh38	chr8	94511258	94511258	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccagaaaaaaatccttcaGgaaccttcaagattgaagaa	18	8	7	8	0	2	4	2	1	0	3	4	5	4	5	3	1	1	0	3	1	7	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.3317C>G	p.Pro1106Arg	p.P1106R	ENST00000297591	13/24	405	264	141	273	273	0	strelka-varscan-mutect	KIAA1429,missense_variant,p.Pro1106Arg,ENST00000297591,NM_015496.4;KIAA1429,missense_variant,p.Pro1106Arg,ENST00000421249,NM_183009.2;KIAA1429,non_coding_transcript_exon_variant,,ENST00000523405,;KIAA1429,missense_variant,p.Pro459Arg,ENST00000522263,;KIAA1429,non_coding_transcript_exon_variant,,ENST00000521080,;	C	ENST00000297591	Transcript	missense_variant	3393/6528	3317/5439	1106/1812	P/R	cCt/cGt		1		-1	KIAA1429	HGNC	HGNC:24500	protein_coding	YES	CCDS34923.1	ENSP00000297591	Q69YN4		UPI00001BBB23	NM_015496.4	deleterious(0)		13/24		hmmpanther:PTHR23185																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	74	94511258	94511258	G	C	1	0	0	0	0	1	0	0	0	8114	1000	35	4		4	KIAA1429	8	94511258	Missense_Mutation	SNP	G	C3N-01405_TP	21943241	94511258	50627378	221	24168											
RIMS2	0	.	GRCh38	chr8	103885896	103885896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaggaccacaaaccatagtCctcctacccccaggaggagt	14	5	8	14	0	0	0	0	0	0	0	2	3	2	3	6	3	2	0	6	3	4	2			C3N-01405_TP	C3N-01405_NB	C	C																c.1297C>T	p.Pro433Ser	p.P433S	ENST00000504942	4/24	255	234	21	137	137	0	strelka-varscan-mutect	RIMS2,missense_variant,p.Pro241Ser,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Pro211Ser,ENST00000436393,;RIMS2,missense_variant,p.Pro433Ser,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Pro375Ser,ENST00000626043,;RIMS2,missense_variant,p.Pro241Ser,ENST00000408894,;RIMS2,missense_variant,p.Pro241Ser,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Pro437Ser,ENST00000632716,;RIMS2,missense_variant,p.Pro241Ser,ENST00000515551,;	T	ENST00000504942	Transcript	missense_variant	1436/4228	1297/4050	433/1349	P/S	Cct/Tct	COSM3951086,COSM3951087,COSM3951088,COSM3951089,COSM3951090	1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	tolerated_low_confidence(0.1)		4/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15											1,1,1,1,1						MODERATE	1	SNV	2		1,1,1,1,1	1										PASS		rs1020266564	.												T	3	4	74	103885896	103885896	C	T	1	0	0	0	0	1	0	0	0	13543	855	30	3		3	RIMS2	8	103885896	Missense_Mutation	SNP	C	C3N-01405_TP	9374638	103885896	41252740	222	24169											
CSMD3	0	.	GRCh38	chr8	112311078	112311078	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcggaatcctcgatcacaGgcccaacggaccacactgtt	11	7	9	14	3	1	0	1	0	0	0	4	3	2	2	3	3	1	1	3	3	2	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.7785C>A	p.=	p.A2595A	ENST00000297405	50/71	369	301	68	247	247	0	strelka-varscan-mutect	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000455883,NM_052900.2;CSMD3,synonymous_variant,p.=,ENST00000339701,;CSMD3,non_coding_transcript_exon_variant,,ENST00000492692,;	T	ENST00000297405	Transcript	synonymous_variant	8030/13212	7785/11124	2595/3707	A	gcC/gcA		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			50/71		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	74	112311078	112311078	G	T	1	0	0	0	0	0	0	0	1	3747	987	35	2		2	CSMD3	8	112311078	Silent	SNP	G	C3N-01405_TP	8425182	112311078	32827558	223	24170											
CSMD3	0	.	GRCh38	chr8	112685522	112685522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcagccccagtaaaggttCcaagaattggggattctgga	11	9	11	10	0	2	1	1	0	1	1	3	3	3	3	4	4	1	2	4	4	4	4			C3N-01405_TP	C3N-01405_NB	C	C																c.2366G>T	p.Gly789Val	p.G789V	ENST00000297405	15/71	327	287	40	208	208	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Gly789Val,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Gly749Val,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Gly685Val,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Gly129Val,ENST00000339701,;	A	ENST00000297405	Transcript	missense_variant	2611/13212	2366/11124	789/3707	G/V	gGa/gTa	COSM1732891,COSM1732892	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		15/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	74	112685522	112685522	C	A	1	0	0	0	0	1	0	0	0	3747	855	30	2		2	CSMD3	8	112685522	Missense_Mutation	SNP	C	C3N-01405_TP	374444	112685522	32453114	224	24171											
CSMD3	0	.	GRCh38	chr8	112829729	112829729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacttcgcccccatcgcCaattgtcaaggtatcatagc	10	10	6	15	2	2	0	2	0	0	0	5	0	3	0	4	1	2	1	4	1	5	4	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1816G>A	p.Gly606Ser	p.G606S	ENST00000297405	12/71	599	492	107	313	313	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Gly606Ser,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Gly566Ser,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Gly502Ser,ENST00000455883,NM_052900.2;	T	ENST00000297405	Transcript	missense_variant	2061/13212	1816/11124	606/3707	G/S	Ggc/Agc		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0.03)		12/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	112829729	112829729	C	T	1	0	0	0	0	1	0	0	0	3747	594	21	3		3	CSMD3	8	112829729	Missense_Mutation	SNP	C	C3N-01405_TP	144207	112829729	32308907	225	24172											
HAS2	0	.	GRCh38	chr8	121629327	121629327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaggatacatagaaacCtctcacaatgcatctgtaat	14	12	5	10	0	3	1	2	0	3	1	5	2	3	2	1	1	3	2	1	1	5	4	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.14G>A	p.Arg5Lys	p.R5K	ENST00000303924	2/4	132	114	18	77	77	0	strelka-varscan-mutect	HAS2,missense_variant,p.Arg5Lys,ENST00000303924,NM_005328.2;	T	ENST00000303924	Transcript	missense_variant	552/4190	14/1659	5/552	R/K	aGg/aAg		1		-1	HAS2	HGNC	HGNC:4819	protein_coding	YES	CCDS6335.1	ENSP00000306991	Q92819		UPI000012C0A9	NM_005328.2	tolerated(0.82)		2/4		hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF7																	MODERATE	1	SNV	1			1										PASS		rs1452705240	.												T	3	4	74	121629327	121629327	C	T	1	0	0	0	0	1	0	0	0	6848	681	24	3		3	HAS2	8	121629327	Missense_Mutation	SNP	C	C3N-01405_TP	8799598	121629327	23509309	226	24173											
ADCY8	0	.	GRCh38	chr8	130821369	130821369	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccatggtagaacacagccagGaggaacatggccatcagtag	14	5	12	10	0	1	1	1	0	0	1	1	3	1	3	3	4	3	2	3	4	4	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.2727C>T	p.=	p.L909L	ENST00000286355	13/18	284	244	40	192	192	0	strelka-varscan-mutect	ADCY8,synonymous_variant,p.=,ENST00000286355,NM_001115.2;ADCY8,synonymous_variant,p.=,ENST00000377928,;	A	ENST00000286355	Transcript	synonymous_variant	4820/5938	2727/3756	909/1251	L	ctC/ctT		1		-1	ADCY8	HGNC	HGNC:239	protein_coding	YES	CCDS6363.1	ENSP00000286355	P40145	A0A0K0K1K3	UPI000012887C	NM_001115.2			13/18		Low_complexity_(Seg):seg,hmmpanther:PTHR11920:SF320,hmmpanther:PTHR11920,PIRSF_domain:PIRSF039050																	LOW	1	SNV	1			1										PASS		rs1429233594	.												A	2	1	74	130821369	130821369	G	A	1	0	0	0	0	0	0	0	1	344	1161	41	3		3	ADCY8	8	130821369	Silent	SNP	G	C3N-01405_TP	9192042	130821369	14317267	227	24174											
TG	0	.	GRCh38	chr8	132871375	132871375	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgtcagctacagaaacAgcagatcttactgagtggct	12	12	9	8	0	2	3	1	1	1	2	2	3	2	3	0	1	5	3	0	1	3	4	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.302A>T	p.Gln101Leu	p.Q101L	ENST00000220616	4/48	672	398	274	422	422	0	strelka-varscan-mutect	TG,missense_variant,p.Gln101Leu,ENST00000220616,NM_003235.4;TG,3_prime_UTR_variant,,ENST00000523901,;	T	ENST00000220616	Transcript	missense_variant	342/8450	302/8307	101/2768	Q/L	cAg/cTg		1		1	TG	HGNC	HGNC:11764	protein_coding	YES	CCDS34944.1	ENSP00000220616	P01266		UPI000013C79F	NM_003235.4	deleterious(0.02)		4/48		PROSITE_profiles:PS51162,hmmpanther:PTHR14093:SF16,hmmpanther:PTHR14093,Pfam_domain:PF00086,PIRSF_domain:PIRSF001831,Superfamily_domains:SSF57610																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	132871375	132871375	A	T	1	0	0	0	0	1	0	0	0	16246	188	7	4		4	TG	8	132871375	Missense_Mutation	SNP	A	C3N-01405_TP	2050006	132871375	12267261	228	24175											
TG	0	.	GRCh38	chr8	132882957	132882957	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgtggacgcccaggggaagGaaatgcatggaacccggcag	11	4	17	9	2	0	0	0	0	0	0	0	4	0	4	2	6	2	2	2	6	3	0	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1033G>T	p.Glu345Ter	p.E345*	ENST00000220616	8/48	219	168	51	139	139	0	strelka-varscan-mutect	TG,stop_gained,p.Glu345Ter,ENST00000220616,NM_003235.4;TG,non_coding_transcript_exon_variant,,ENST00000520769,;TG,downstream_gene_variant,,ENST00000523901,;	T	ENST00000220616	Transcript	stop_gained	1073/8450	1033/8307	345/2768	E/*	Gaa/Taa		1		1	TG	HGNC	HGNC:11764	protein_coding	YES	CCDS34944.1	ENSP00000220616	P01266		UPI000013C79F	NM_003235.4			8/48		PROSITE_profiles:PS51162,hmmpanther:PTHR14093:SF16,hmmpanther:PTHR14093,Pfam_domain:PF00086,PIRSF_domain:PIRSF001831,Gene3D:4.10.800.10,SMART_domains:SM00211,Superfamily_domains:SSF57610																	HIGH	1	SNV	1			1										PASS		rs1049761427	.												T	4	4	74	132882957	132882957	G	T	1	0	0	0	0	0	1	0	0	16246	1175	41	2		2	TG	8	132882957	Nonsense_Mutation	SNP	G	C3N-01405_TP	11582	132882957	12255679	229	24176											
FAM135B	0	.	GRCh38	chr8	138265741	138265741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatgaactcggaagaccaCagcatcatttatgggtacct	14	10	8	9	1	1	2	1	1	0	1	2	3	1	3	2	2	3	2	2	2	6	4	rs768257554		C3N-01405_TP	C3N-01405_NB	C	C																c.259G>T	p.Val87Leu	p.V87L	ENST00000395297	4/20	273	229	44	155	155	0	strelka-varscan-mutect	FAM135B,missense_variant,p.Val87Leu,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Val87Leu,ENST00000160713,;FAM135B,downstream_gene_variant,,ENST00000517849,;FAM135B,missense_variant,p.Val87Leu,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;	A	ENST00000395297	Transcript	missense_variant	430/6962	259/4221	87/1406	V/L	Gtg/Ttg	rs768257554	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	tolerated(0.09)		4/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482																	MODERATE	1	SNV	5			1										PASS		rs768257554	.												A	3	1	74	138265741	138265741	C	A	1	0	0	0	0	1	0	0	0	5299	478	17	2		2	FAM135B	8	138265741	Missense_Mutation	SNP	C	C3N-01405_TP	5382784	138265741	6872895	230	24177											
COL22A1	0	.	GRCh38	chr8	138613915	138613915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcccagtgggtccagtGtcaccctggaacaaagacag	10	7	13	11	0	1	1	1	0	0	1	2	2	2	2	3	3	1	0	3	3	2	0	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.3930C>T	p.=	p.D1310D	ENST00000303045	56/65	360	315	45	170	170	0	strelka-varscan-mutect	COL22A1,synonymous_variant,p.=,ENST00000303045,NM_152888.2;COL22A1,synonymous_variant,p.=,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;COL22A1,non_coding_transcript_exon_variant,,ENST00000487854,;	A	ENST00000303045	Transcript	synonymous_variant	4377/6346	3930/4881	1310/1626	D	gaC/gaT		1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2			56/65		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,Pfam_domain:PF01391																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	138613915	138613915	G	A	1	0	0	0	0	0	0	0	1	3469	1391	48	3		3	COL22A1	8	138613915	Silent	SNP	G	C3N-01405_TP	348174	138613915	6524721	231	24178											
ADGRB1	0	.	GRCh38	chr8	142479378	142479378	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agttgcagcgtcacgtgtggGgctggcagccagcgacggga	7	6	18	10	4	1	0	1	0	0	0	1	2	1	1	1	4	4	4	1	4	0	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1617G>T	p.=	p.G539G	ENST00000517894	8/31	39	35	4	22	22	0	strelka-mutect	ADGRB1,synonymous_variant,p.=,ENST00000517894,;ADGRB1,synonymous_variant,p.=,ENST00000323289,NM_001702.2;ADGRB1,synonymous_variant,p.=,ENST00000521208,;ADGRB1,non_coding_transcript_exon_variant,,ENST00000518820,;	T	ENST00000517894	Transcript	synonymous_variant	2511/6241	1617/4755	539/1584	G	ggG/ggT		1		1	ADGRB1	HGNC	HGNC:943	protein_coding	YES	CCDS64985.1	ENSP00000430945	O14514		UPI00002109E8				8/31		PROSITE_profiles:PS50092,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	74	142479378	142479378	G	T	1	0	0	0	0	0	0	0	1	355	1219	43	2		2	ADGRB1	8	142479378	Silent	SNP	G	C3N-01405_TP	3865463	142479378	2659258	232	24179											
MROH6	0	.	GRCh38	chr8	143571679	143571679	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttaccgatcggcgggcAgagagcggggtagcagcgca	8	5	19	9	5	0	1	0	0	0	1	1	3	0	1	1	5	4	5	1	5	2	2	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.590T>C	p.Leu197Pro	p.L197P	ENST00000398882	3/14	398	340	58	207	207	0	strelka-varscan-mutect	MROH6,missense_variant,p.Leu197Pro,ENST00000398882,NM_001100878.1;MROH6,missense_variant,p.Leu197Pro,ENST00000529971,;NAPRT,downstream_gene_variant,,ENST00000449291,NM_145201.5;MROH6,upstream_gene_variant,,ENST00000533679,;NAPRT,downstream_gene_variant,,ENST00000435154,;MROH6,upstream_gene_variant,,ENST00000524906,;MROH6,upstream_gene_variant,,ENST00000534459,;NAPRT,downstream_gene_variant,,ENST00000426292,NM_001286829.1;MROH6,upstream_gene_variant,,ENST00000532862,;RP11-661A12.9,upstream_gene_variant,,ENST00000531730,;MROH6,upstream_gene_variant,,ENST00000532704,;MROH6,upstream_gene_variant,,ENST00000533582,;MROH6,upstream_gene_variant,,ENST00000533210,;NAPRT,downstream_gene_variant,,ENST00000340490,;NAPRT,downstream_gene_variant,,ENST00000464332,;NAPRT,downstream_gene_variant,,ENST00000480946,;NAPRT,downstream_gene_variant,,ENST00000525583,;NAPRT,downstream_gene_variant,,ENST00000488096,;NAPRT,downstream_gene_variant,,ENST00000532645,;MROH6,upstream_gene_variant,,ENST00000533120,;NAPRT,downstream_gene_variant,,ENST00000460623,;MROH6,upstream_gene_variant,,ENST00000533083,;NAPRT,downstream_gene_variant,,ENST00000529179,;NAPRT,downstream_gene_variant,,ENST00000498076,;	G	ENST00000398882	Transcript	missense_variant	847/3469	590/2160	197/719	L/P	cTg/cCg		1		-1	MROH6	HGNC	HGNC:27814	protein_coding	YES	CCDS47928.1	ENSP00000381857	A6NGR9		UPI0000DD7EFB	NM_001100878.1	deleterious(0.03)		3/14		hmmpanther:PTHR23120:SF7,hmmpanther:PTHR23120																	MODERATE		SNV	5			1										PASS		rs1278043713	.												G	3	3	74	143571679	143571679	A	G	1	0	0	0	0	1	0	0	0	9746	188	7	5		5	MROH6	8	143571679	Missense_Mutation	SNP	A	C3N-01405_TP	1092301	143571679	1566957	233	24180											
GLDC	0	.	GRCh38	chr9	6553371	6553371	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atactcccaggcctcaccttGatataagcccaggaaatggg	12	8	9	12	0	1	1	1	1	0	0	2	2	2	2	4	3	2	0	4	3	4	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.2454C>G	p.Ile818Met	p.I818M	ENST00000321612	20/25	291	239	52	164	164	0	strelka-varscan-mutect	GLDC,missense_variant,p.Ile818Met,ENST00000321612,NM_000170.2;GLDC,downstream_gene_variant,,ENST00000460457,;GLDC,downstream_gene_variant,,ENST00000467946,;	C	ENST00000321612	Transcript	missense_variant	2605/3767	2454/3063	818/1020	I/M	atC/atG		1		-1	GLDC	HGNC	HGNC:4313	protein_coding	YES	CCDS34987.1	ENSP00000370737	P23378		UPI0000684276	NM_000170.2	deleterious(0.02)		20/25		HAMAP:MF_00711,hmmpanther:PTHR11773,hmmpanther:PTHR11773:SF1,TIGRFAM_domain:TIGR00461,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	74	6553371	6553371	G	C	1	0	0	0	0	1	0	0	0	6311	1304	45	4		4	GLDC	9	6553371	Missense_Mutation	SNP	G	C3N-01405_TP		6553371	131841346	234	24181											
GLDC	0	.	GRCh38	chr9	6604626	6604626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaggcatcattctcacCaagctttctcggacagcaaa	11	10	6	14	1	3	0	2	0	2	0	6	1	4	1	2	2	2	3	2	2	2	3	rs563039693		C3N-01405_TP	C3N-01405_NB	C	C																c.1020G>T	p.Leu340Phe	p.L340F	ENST00000321612	7/25	250	212	38	208	208	0	strelka-varscan-mutect	GLDC,missense_variant,p.Leu340Phe,ENST00000321612,NM_000170.2;GLDC,intron_variant,,ENST00000463305,;	A	ENST00000321612	Transcript	missense_variant	1171/3767	1020/3063	340/1020	L/F	ttG/ttT	rs563039693	1		-1	GLDC	HGNC	HGNC:4313	protein_coding	YES	CCDS34987.1	ENSP00000370737	P23378		UPI0000684276	NM_000170.2	tolerated(0.49)		7/25		HAMAP:MF_00711,hmmpanther:PTHR11773,hmmpanther:PTHR11773:SF1,Gene3D:3.40.640.10,Pfam_domain:PF02347,TIGRFAM_domain:TIGR00461,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		rs563039693	.												A	3	1	74	6604626	6604626	C	A	1	0	0	0	0	1	0	0	0	6311	593	21	2		2	GLDC	9	6604626	Missense_Mutation	SNP	C	C3N-01405_TP	51255	6604626	131790091	235	24182											
PTPRD	0	.	GRCh38	chr9	8733779	8733779	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaaggggagaatggcttaCtctcagcatccgtgcggagg	10	7	16	8	2	1	2	1	0	1	2	3	5	2	3	1	5	3	2	1	5	3	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.64+1G>A		p.X22_splice	ENST00000381196		186	161	25	204	204	0	strelka-varscan-mutect	PTPRD,splice_donor_variant,,ENST00000381196,NM_002839.3;PTPRD,splice_donor_variant,,ENST00000356435,;PTPRD,splice_donor_variant,,ENST00000355233,NM_130392.3;PTPRD,splice_donor_variant,,ENST00000397617,;PTPRD,splice_donor_variant,,ENST00000397611,NM_001040712.2;PTPRD,splice_donor_variant,,ENST00000537002,NM_130393.3;PTPRD,splice_donor_variant,,ENST00000540109,;PTPRD,splice_donor_variant,,ENST00000486161,NM_130391.3;PTPRD,splice_donor_variant,,ENST00000397606,NM_001171025.1;PTPRD,splice_donor_variant,,ENST00000463477,;PTPRD,splice_donor_variant,,ENST00000481079,;	T	ENST00000381196	Transcript	splice_donor_variant	-/9911	64/5739	22/1912				1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3				9/42																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	74	8733779	8733779	C	T	1	0	0	0	0	0	0	1	0	12953	579	20	3		3	PTPRD	9	8733779	Splice_Site	SNP	C	C3N-01405_TP	2129153	8733779	129660938	236	24183											
BNC2	0	.	GRCh38	chr9	16436711	16436711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cataggcatgtgaaggcgagGattggggtttgcactgtggc	8	10	17	6	1	0	1	0	1	0	0	0	3	0	2	0	6	1	3	0	6	2	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1483C>A	p.Pro495Thr	p.P495T	ENST00000380672	6/7	457	350	107	417	417	0	strelka-varscan-mutect	BNC2,missense_variant,p.Pro495Thr,ENST00000380672,NM_001317940.1,NM_017637.5;BNC2,missense_variant,p.Pro321Thr,ENST00000545497,;BNC2,missense_variant,p.Pro452Thr,ENST00000418777,;BNC2,missense_variant,p.Pro428Thr,ENST00000380667,;BNC2,upstream_gene_variant,,ENST00000411752,;BNC2,downstream_gene_variant,,ENST00000380666,;BNC2,downstream_gene_variant,,ENST00000603713,;BNC2,missense_variant,p.Pro495Thr,ENST00000484726,;	T	ENST00000380672	Transcript	missense_variant	1541/12844	1483/3300	495/1099	P/T	Cct/Act		1		-1	BNC2	HGNC	HGNC:30988	protein_coding	YES	CCDS6482.2	ENSP00000370047	Q6ZN30		UPI000035E7B0	NM_001317940.1,NM_017637.5	deleterious(0)		6/7		hmmpanther:PTHR15021:SF2,hmmpanther:PTHR15021,SMART_domains:SM00355																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	74	16436711	16436711	G	T	1	0	0	0	0	1	0	0	0	1631	1174	41	2		2	BNC2	9	16436711	Missense_Mutation	SNP	G	C3N-01405_TP	7702932	16436711	121958006	237	24184											
FRMPD1	0	.	GRCh38	chr9	37746709	37746709	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcccgtcagtgcacGgccctcacggccgccgtgtt	3	8	12	18	5	2	0	2	0	0	0	3	0	3	0	5	3	1	2	5	3	0	1			C3N-01405_TP	C3N-01405_NB	G	G																c.4677G>T	p.=	p.T1559T	ENST00000539465	16/16	222	167	55	178	176	2	strelka-varscan-mutect	FRMPD1,synonymous_variant,p.=,ENST00000539465,;FRMPD1,synonymous_variant,p.=,ENST00000377765,NM_014907.2;RP11-613M10.9,intron_variant,,ENST00000540557,;	T	ENST00000539465	Transcript	synonymous_variant	5270/5465	4677/4737	1559/1578	T	acG/acT	COSM2775846	1		1	FRMPD1	HGNC	HGNC:29159	protein_coding	YES	CCDS6612.1	ENSP00000444411	Q5SYB0		UPI000013D2CC				16/16													1						LOW	1	SNV	1		1	1										PASS		rs903349045	.												T	2	4	74	37746709	37746709	G	T	1	0	0	0	0	0	0	0	1	5927	1103	39	1		1	FRMPD1	9	37746709	Silent	SNP	G	C3N-01405_TP	21309998	37746709	100648008	238	24185											
GDA	0	.	GRCh38	chr9	72202636	72202636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagtattcctttgctggaaGtagcatagacctgccactct	9	13	8	11	0	2	1	1	0	1	1	3	2	3	2	3	1	3	4	3	1	4	5	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.278G>T	p.Ser93Ile	p.S93I	ENST00000238018	3/16	158	141	17	163	162	1	strelka-varscan-mutect	GDA,missense_variant,p.Ser19Ile,ENST00000545168,NM_001242507.2,NM_001242506.2;GDA,missense_variant,p.Ser93Ile,ENST00000358399,NM_004293.4;GDA,missense_variant,p.Ser93Ile,ENST00000238018,NM_001242505.2;GDA,missense_variant,p.Ser51Ile,ENST00000376986,;GDA,non_coding_transcript_exon_variant,,ENST00000477618,;GDA,missense_variant,p.Ser93Ile,ENST00000475764,;	T	ENST00000238018	Transcript	missense_variant	487/2074	278/1416	93/471	S/I	aGt/aTt		1		1	GDA	HGNC	HGNC:4212	protein_coding	YES	CCDS56576.1	ENSP00000238018	Q9Y2T3		UPI000015828B	NM_001242505.2	tolerated(0.07)		3/16		Gene3D:3.20.20.140,Pfam_domain:PF01979,hmmpanther:PTHR11271,hmmpanther:PTHR11271:SF6,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR02967																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	72202636	72202636	G	T	1	0	0	0	0	1	0	0	0	6178	1029	36	2		2	GDA	9	72202636	Missense_Mutation	SNP	G	C3N-01405_TP	34455927	72202636	66192081	239	24186											
CEP78	0	.	GRCh38	chr9	78248339	78248339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtcctccagaatggaaGgagtgccaaatcagaggtat	16	7	11	7	0	1	2	1	0	0	2	3	4	3	4	3	3	1	1	3	3	6	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.941G>T	p.Arg314Met	p.R314M	ENST00000376597	7/16	175	130	45	202	202	0	strelka-varscan-mutect	CEP78,missense_variant,p.Arg314Met,ENST00000424347,;CEP78,missense_variant,p.Arg314Met,ENST00000415759,NM_032171.1;CEP78,missense_variant,p.Arg314Met,ENST00000376597,NM_001098802.1;CEP78,missense_variant,p.Arg314Met,ENST00000277082,;CEP78,missense_variant,p.Arg314Met,ENST00000376598,;CEP78,intron_variant,,ENST00000476652,;CEP78,upstream_gene_variant,,ENST00000487108,;CEP78,non_coding_transcript_exon_variant,,ENST00000536374,;	T	ENST00000376597	Transcript	missense_variant	1085/2618	941/2169	314/722	R/M	aGg/aTg		1		1	CEP78	HGNC	HGNC:25740	protein_coding	YES	CCDS47984.1	ENSP00000365782	Q5JTW2		UPI000153BFA4	NM_001098802.1	deleterious(0.03)		7/16		hmmpanther:PTHR24110,hmmpanther:PTHR24110:SF3,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	78248339	78248339	G	T	1	0	0	0	0	1	0	0	0	2983	1000	35	2		2	CEP78	9	78248339	Missense_Mutation	SNP	G	C3N-01405_TP	6045703	78248339	60146378	240	24187											
WNK2	0	.	GRCh38	chr9	93229843	93229843	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcattgtgctggtgacggagCtgatgacctcagggacgctg	7	9	16	9	2	1	3	1	3	0	0	1	5	1	5	1	3	2	4	1	3	0	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.829C>A	p.Leu277Met	p.L277M	ENST00000297954	2/30	145	127	18	89	88	1	strelka-varscan-mutect	WNK2,missense_variant,p.Leu273Met,ENST00000432730,;WNK2,missense_variant,p.Leu277Met,ENST00000297954,NM_001282394.1;WNK2,missense_variant,p.Leu277Met,ENST00000395477,NM_006648.3;WNK2,missense_variant,p.Leu277Met,ENST00000448039,;WNK2,5_prime_UTR_variant,,ENST00000427277,;	A	ENST00000297954	Transcript	missense_variant	829/7138	829/6894	277/2297	L/M	Ctg/Atg		1		1	WNK2	HGNC	HGNC:14542	protein_coding	YES	CCDS75858.1	ENSP00000297954	Q9Y3S1		UPI0000236D76	NM_001282394.1	deleterious(0)		2/30		PROSITE_profiles:PS50011,hmmpanther:PTHR13902:SF10,hmmpanther:PTHR13902,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs1363811526	.												A	3	1	74	93229843	93229843	C	A	1	0	0	0	0	1	0	0	0	17934	796	28	2		2	WNK2	9	93229843	Missense_Mutation	SNP	C	C3N-01405_TP	14981504	93229843	45164874	241	24188											
SLC35D2	0	.	GRCh38	chr9	96351142	96351142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaataatggcaaagacaCtgaggatgatgttgagtgaa	16	8	13	4	1	0	6	0	4	0	2	0	8	0	7	0	2	0	2	0	2	4	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.449G>T	p.Ser150Ile	p.S150I	ENST00000253270	6/12	223	180	43	222	222	0	strelka-varscan-mutect	SLC35D2,missense_variant,p.Ser150Ile,ENST00000253270,NM_007001.2;SLC35D2,missense_variant,p.Ser150Ile,ENST00000375259,NM_001286990.1;SLC35D2,missense_variant,p.Ser150Ile,ENST00000375257,;SLC35D2,non_coding_transcript_exon_variant,,ENST00000482643,;	A	ENST00000253270	Transcript	missense_variant	512/1613	449/1014	150/337	S/I	aGt/aTt		1		-1	SLC35D2	HGNC	HGNC:20799	protein_coding	YES	CCDS6717.1	ENSP00000253270	Q76EJ3	A0A024R9N5	UPI000003778E	NM_007001.2	deleterious(0.01)		6/12		Pfam_domain:PF03151,hmmpanther:PTHR11132,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	96351142	96351142	C	A	1	0	0	0	0	1	0	0	0	14852	565	20	2		2	SLC35D2	9	96351142	Missense_Mutation	SNP	C	C3N-01405_TP	3121299	96351142	42043575	242	24189											
NUTM2G	0	.	GRCh38	chr9	96932213	96932213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaggtggcccccatcGtgtccccagggaacgctggg	5	6	14	16	2	0	0	0	0	0	0	2	1	1	1	5	4	2	1	5	4	1	0	rs200771234,rs780462082		C3N-01405_TP	C3N-01405_NB	G	G																c.508G>T	p.Val170Leu	p.V170L	ENST00000372322	2/7	588	553	35	430	430	0	varscan-mutect	NUTM2G,missense_variant,p.Val170Leu,ENST00000354649,NM_001045477.2;NUTM2G,missense_variant,p.Val170Leu,ENST00000372322,NM_001170741.1;MFSD14C,intron_variant,,ENST00000637409,;MFSD14C,intron_variant,,ENST00000506067,;MFSD14C,intron_variant,,ENST00000637076,;MFSD14C,downstream_gene_variant,,ENST00000637099,;	T	ENST00000372322	Transcript	missense_variant	529/2516	508/2226	170/741	V/L	Gtg/Ttg	rs200771234,rs780462082,COSM2733876,COSM2733877	1		1	NUTM2G	HGNC	HGNC:23449	protein_coding	YES	CCDS55329.1	ENSP00000361397	Q5VZR2		UPI000175026B	NM_001170741.1	deleterious(0.05)		2/7		Pfam_domain:PF12881,hmmpanther:PTHR22879,hmmpanther:PTHR22879:SF12											0,0,1,1						MODERATE	1	SNV	5		0,0,1,1	1										PASS		rs200771234	.												T	3	4	74	96932213	96932213	G	T	1	0	0	0	0	1	0	0	0	10852	1145	40	1		1	NUTM2G	9	96932213	Missense_Mutation	SNP	G	C3N-01405_TP	581071	96932213	41462504	243	24190											
GRIN3A	0	.	GRCh38	chr9	101737308	101737308	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtggaaactcgtggcgCacgatgctgatcactggaat	9	9	12	11	4	1	1	1	1	0	0	3	4	2	3	1	3	2	2	1	3	2	0	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.672G>A	p.=	p.V224V	ENST00000361820	1/9	265	244	21	209	209	0	strelka-varscan-mutect	GRIN3A,synonymous_variant,p.=,ENST00000361820,NM_133445.2;	T	ENST00000361820	Transcript	synonymous_variant	1273/7770	672/3348	224/1115	V	gtG/gtA		1		-1	GRIN3A	HGNC	HGNC:16767	protein_coding	YES	CCDS6758.1	ENSP00000355155	Q8TCU5		UPI0000367661	NM_133445.2			1/9		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	74	101737308	101737308	C	T	1	0	0	0	0	0	0	0	1	6665	697	25	3		3	GRIN3A	9	101737308	Silent	SNP	C	C3N-01405_TP	4805095	101737308	36657409	244	24191											
ZNF462	0	.	GRCh38	chr9	106925245	106925245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggttccagtgccccttttgtCctttcctcaccatgcatcga	5	14	7	15	1	1	0	1	0	0	0	5	1	4	0	6	1	2	2	6	1	0	4	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1333C>G	p.Pro445Ala	p.P445A	ENST00000277225	3/13	229	197	32	143	143	0	strelka-varscan-mutect	ZNF462,missense_variant,p.Pro445Ala,ENST00000277225,NM_021224.4;ZNF462,intron_variant,,ENST00000472574,;ZNF462,upstream_gene_variant,,ENST00000374686,;ZNF462,upstream_gene_variant,,ENST00000441147,;ZNF462,upstream_gene_variant,,ENST00000497489,;ZNF462,upstream_gene_variant,,ENST00000480607,;	G	ENST00000277225	Transcript	missense_variant	1622/10414	1333/7521	445/2506	P/A	Cct/Gct		1		1	ZNF462	HGNC	HGNC:21684	protein_coding	YES	CCDS35096.1	ENSP00000277225	Q96JM2		UPI0000470106	NM_021224.4	tolerated_low_confidence(0.94)		3/13		SMART_domains:SM00355																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	106925245	106925245	C	G	1	0	0	0	0	1	0	0	0	18497	855	30	4		4	ZNF462	9	106925245	Missense_Mutation	SNP	C	C3N-01405_TP	5187937	106925245	31469472	245	24192											
C5	0	.	GRCh38	chr9	121021544	121021544	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtcactccagatgggagatTaagcacaaaggaagctactc	14	7	10	10	1	1	2	1	0	0	2	3	4	2	3	1	2	3	2	1	2	4	2	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.1267A>G	p.Asn423Asp	p.N423D	ENST00000223642	11/41	233	189	44	272	271	1	strelka-varscan-mutect	C5,missense_variant,p.Asn423Asp,ENST00000223642,NM_001317163.1,NM_001735.2;C5,downstream_gene_variant,,ENST00000460578,;	C	ENST00000223642	Transcript	missense_variant	1297/5465	1267/5031	423/1676	N/D	Aat/Gat		1		-1	C5	HGNC	HGNC:1331	protein_coding	YES	CCDS6826.1	ENSP00000223642	P01031		UPI000013C838	NM_001317163.1,NM_001735.2	deleterious(0.03)		11/41		hmmpanther:PTHR11412:SF83,hmmpanther:PTHR11412																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	74	121021544	121021544	T	C	1	0	0	0	0	1	0	0	0	2091	1754	61	5		5	C5	9	121021544	Missense_Mutation	SNP	T	C3N-01405_TP	14096299	121021544	17373173	246	24193											
SETX	0	.	GRCh38	chr9	132329332	132329332	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attcgatgtggacactttttCcaaagcatcagtgctagaat	12	13	8	8	1	1	1	1	0	0	1	3	3	2	2	1	1	2	2	1	1	3	4	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.2266G>C	p.Glu756Gln	p.E756Q	ENST00000224140	10/26	173	154	19	130	130	0	strelka-varscan-mutect	SETX,missense_variant,p.Glu756Gln,ENST00000224140,NM_015046.5;	G	ENST00000224140	Transcript	missense_variant	2449/11100	2266/8034	756/2677	E/Q	Gaa/Caa		1		-1	SETX	HGNC	HGNC:445	protein_coding	YES	CCDS6947.1	ENSP00000224140	Q7Z333		UPI0000210D28	NM_015046.5	tolerated(0.16)		10/26																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	132329332	132329332	C	G	1	0	0	0	0	1	0	0	0	14420	864	30	4		4	SETX	9	132329332	Missense_Mutation	SNP	C	C3N-01405_TP	11307788	132329332	6065385	247	24194											
FAM171A1	0	.	GRCh38	chr10	15284052	15284052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagatctcgatgagcgcatCtgctacgggctggtgggtgc	7	9	16	9	3	2	2	0	1	2	1	3	4	2	2	0	3	4	3	0	3	2	1	rs373169282		C3N-01405_TP	C3N-01405_NB	C	C																c.151G>A	p.Asp51Asn	p.D51N	ENST00000378116	2/8	450	376	74	260	259	1	strelka-varscan-mutect	FAM171A1,missense_variant,p.Asp51Asn,ENST00000378116,NM_001010924.1;FAM171A1,missense_variant,p.Asp51Asn,ENST00000455654,;	T	ENST00000378116	Transcript	missense_variant	158/3952	151/2673	51/890	D/N	Gat/Aat	rs373169282	1		-1	FAM171A1	HGNC	HGNC:23522	protein_coding	YES	CCDS31154.1	ENSP00000367356	Q5VUB5		UPI00001414CA	NM_001010924.1	tolerated(0.38)		2/8		hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF1,Pfam_domain:PF10577																	MODERATE	1	SNV	1			1										PASS		rs373169282	.												T	3	4	74	15284052	15284052	C	T	1	0	0	0	0	1	0	0	0	5337	913	32	3		3	FAM171A1	10	15284052	Missense_Mutation	SNP	C	C3N-01405_TP		15284052	118513370	248	24195											
CUBN	0	.	GRCh38	chr10	16836376	16836376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgaaatcttgaatttcCgtgaccctgaaatgaaatgg	14	11	9	7	1	1	5	0	5	1	0	2	6	2	5	2	1	1	0	2	1	5	2	rs146027947		C3N-01405_TP	C3N-01405_NB	C	C																c.10039G>C	p.Gly3347Arg	p.G3347R	ENST00000377833	63/67	293	211	82	208	208	0	strelka-varscan-mutect	CUBN,missense_variant,p.Gly3347Arg,ENST00000377833,NM_001081.3;	G	ENST00000377833	Transcript	missense_variant	10105/11949	10039/10872	3347/3623	G/R	Gga/Cga	rs146027947,COSM3997868	1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3	tolerated(0.59)		63/67		PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs146027947	.												G	3	3	74	16836376	16836376	C	G	1	0	0	0	0	1	0	0	0	3861	661	23	4		4	CUBN	10	16836376	Missense_Mutation	SNP	C	C3N-01405_TP	1552324	16836376	116961046	249	24196											
SLC39A12	0	.	GRCh38	chr10	18000692	18000692	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccattagcttgttagcaatCatgattctggttggggacag	9	13	12	7	0	2	1	1	1	1	0	2	2	2	2	1	3	2	4	1	3	3	5	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1626C>G	p.Ile542Met	p.I542M	ENST00000377369	11/13	223	172	51	146	146	0	strelka-varscan-mutect	SLC39A12,missense_variant,p.Ile542Met,ENST00000377369,NM_001145195.1;SLC39A12,missense_variant,p.Ile541Met,ENST00000377371,NM_001282733.1;SLC39A12,missense_variant,p.Ile505Met,ENST00000377374,NM_152725.3;SLC39A12,missense_variant,p.Ile408Met,ENST00000539911,NM_001282734.1;SLC39A12-AS1,downstream_gene_variant,,ENST00000439319,;SLC39A12-AS1,downstream_gene_variant,,ENST00000445287,;	G	ENST00000377369	Transcript	missense_variant	1899/2808	1626/2076	542/691	I/M	atC/atG		1		1	SLC39A12	HGNC	HGNC:20860	protein_coding	YES	CCDS44362.1	ENSP00000366586	Q504Y0		UPI00004044FC	NM_001145195.1	deleterious(0.02)		11/13		Transmembrane_helices:TMhelix,hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191,Pfam_domain:PF02535																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	18000692	18000692	C	G	1	0	0	0	0	1	0	0	0	14893	816	29	4		4	SLC39A12	10	18000692	Missense_Mutation	SNP	C	C3N-01405_TP	1164316	18000692	115796730	250	24197											
GPR158	0	.	GRCh38	chr10	25596739	25596739	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcctacctgaacagcAgtatcaattcagcctggagt	11	10	9	11	0	2	1	2	1	0	0	3	3	3	3	3	2	4	2	3	2	4	3	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.2095A>G	p.Ser699Gly	p.S699G	ENST00000376351	10/11	203	161	42	128	128	0	strelka-varscan-mutect	GPR158,missense_variant,p.Ser699Gly,ENST00000376351,NM_020752.2;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	G	ENST00000376351	Transcript	missense_variant	2454/6959	2095/3648	699/1215	S/G	Agt/Ggt		1		1	GPR158	HGNC	HGNC:23689	protein_coding	YES	CCDS31166.1	ENSP00000365529	Q5T848		UPI0000199875	NM_020752.2	deleterious(0)		10/11		hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	25596739	25596739	A	G	1	0	0	0	0	1	0	0	0	6549	188	7	5		5	GPR158	10	25596739	Missense_Mutation	SNP	A	C3N-01405_TP	7596047	25596739	108200683	251	24198											
GPR158	0	.	GRCh38	chr10	25598209	25598209	+	Frame_Shift_Del	DEL	A	A	-																															aaaaaactaacacaaaaactAaaagaagacagcgaggctga																										C3N-01405_TP	C3N-01405_NB	A	A																c.2586delA	p.Glu863LysfsTer44	p.E863Kfs*44	ENST00000376351	11/11	322	229	93	253	252	1	sindel-varindel-pindel	GPR158,frameshift_variant,p.Glu863LysfsTer44,ENST00000376351,NM_020752.2;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;	-	ENST00000376351	Transcript	frameshift_variant	2942/6959	2583/3648	861/1215	L/X	ctA/ct	COSM4946459	1		1	GPR158	HGNC	HGNC:23689	protein_coding	YES	CCDS31166.1	ENSP00000365529	Q5T848		UPI0000199875	NM_020752.2			11/11		hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546											1						HIGH	1	deletion	1	3	1	1										PASS		.	.												-	7	5	74	25598209	25598209	A	-	1	0	1	0	1	0	0	0	0	6549	349	13	0		0	GPR158	10	25598209	Frame_Shift_Del	DEL	A	C3N-01405_TP	1470	25598209	108199213	252	24199											
PCDH15	0	.	GRCh38	chr10	53806596	53806596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtcacagttttgtcattgGtatatggaggttgttccagg	7	16	13	5	0	2	0	2	0	0	0	3	1	3	1	1	5	0	4	1	5	2	7	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.5029C>A	p.Pro1677Thr	p.P1677T	ENST00000614895	35/35	186	163	23	134	134	0	strelka-varscan-mutect	PCDH15,missense_variant,p.Pro1677Thr,ENST00000614895,;PCDH15,missense_variant,p.Pro1673Thr,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Pro1672Thr,ENST00000414778,;PCDH15,missense_variant,p.Pro1671Thr,ENST00000616114,;PCDH15,missense_variant,p.Pro1678Thr,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Pro412Thr,ENST00000495484,;PCDH15,missense_variant,p.Pro456Thr,ENST00000618301,;PCDH15,downstream_gene_variant,,ENST00000617271,NM_001142770.1;PCDH15,downstream_gene_variant,,ENST00000613657,NM_001142769.1;PCDH15,downstream_gene_variant,,ENST00000395445,;PCDH15,downstream_gene_variant,,ENST00000395438,;PCDH15,downstream_gene_variant,,ENST00000612394,;PCDH15,downstream_gene_variant,,ENST00000409834,;PCDH15,downstream_gene_variant,,ENST00000395446,;PCDH15,downstream_gene_variant,,ENST00000395440,;PCDH15,downstream_gene_variant,,ENST00000395442,;PCDH15,downstream_gene_variant,,ENST00000615043,;PCDH15,downstream_gene_variant,,ENST00000414367,;PCDH15,downstream_gene_variant,,ENST00000476074,;	T	ENST00000614895	Transcript	missense_variant	5424/9249	5029/5046	1677/1681	P/T	Cca/Aca		1		-1	PCDH15	HGNC	HGNC:14674	protein_coding			ENSP00000478512		A0A087WUA8	UPI0004E4CB60		deleterious_low_confidence(0)		35/35																			MODERATE		SNV	5			1										PASS		.	.												T	3	4	74	53806596	53806596	G	T	1	0	0	0	0	1	0	0	0	11598	1261	44	2		2	PCDH15	10	53806596	Missense_Mutation	SNP	G	C3N-01405_TP	28208387	53806596	79990826	253	24200											
IPMK	0	.	GRCh38	chr10	58199273	58199273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttgttaagcttcttcCgtaatgctggttttctgtct	4	22	7	8	1	4	0	0	0	4	0	5	0	5	0	1	1	2	5	1	1	2	9	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.595G>A	p.Gly199Arg	p.G199R	ENST00000373935	5/6	172	162	10	128	128	0	strelka-varscan-mutect	IPMK,missense_variant,p.Gly199Arg,ENST00000373935,NM_152230.4;	T	ENST00000373935	Transcript	missense_variant	918/6133	595/1251	199/416	G/R	Gga/Aga		1		-1	IPMK	HGNC	HGNC:20739	protein_coding	YES	CCDS7250.1	ENSP00000363046	Q8NFU5		UPI000006FB8E	NM_152230.4	deleterious(0.02)		5/6		hmmpanther:PTHR12400:SF51,hmmpanther:PTHR12400,Pfam_domain:PF03770,Superfamily_domains:SSF56104																	MODERATE	1	SNV	1			1										PASS		rs1350051529	.												T	3	4	74	58199273	58199273	C	T	1	0	0	0	0	1	0	0	0	7695	661	23	1		1	IPMK	10	58199273	Missense_Mutation	SNP	C	C3N-01405_TP	4392677	58199273	75598149	254	24201											
CCDC6	0	.	GRCh38	chr10	59906230	59906230	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttgttctcttgctgcagCgaggccaggcggttggtgag	5	11	15	10	2	1	1	0	1	1	0	2	2	1	1	2	4	3	4	2	4	0	4	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.195G>C	p.=	p.S65S	ENST00000263102	1/9	447	414	33	286	286	0	strelka-varscan-mutect	CCDC6,synonymous_variant,p.=,ENST00000263102,NM_005436.4;	G	ENST00000263102	Transcript	synonymous_variant	427/5811	195/1425	65/474	S	tcG/tcC		1		-1	CCDC6	HGNC	HGNC:18782	protein_coding	YES	CCDS7257.1	ENSP00000263102	Q16204		UPI000035B25A	NM_005436.4			1/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15276,hmmpanther:PTHR15276:SF0,Pfam_domain:PF09755																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	74	59906230	59906230	C	G	1	0	0	0	0	0	0	0	1	2532	755	27	4		4	CCDC6	10	59906230	Silent	SNP	C	C3N-01405_TP	1706957	59906230	73891192	255	24202											
TMEM26	0	.	GRCh38	chr10	61410416	61410416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttctgccagtcccgctgaGagggcccactctcagaggtc	6	8	12	15	2	2	2	1	1	2	2	5	3	3	2	3	2	1	2	3	2	0	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1013C>A	p.Ser338Tyr	p.S338Y	ENST00000399298	6/6	376	262	114	234	233	1	strelka-varscan-mutect	TMEM26,missense_variant,p.Ser338Tyr,ENST00000399298,NM_178505.6;TMEM26,downstream_gene_variant,,ENST00000277749,;TMEM26,non_coding_transcript_exon_variant,,ENST00000507507,;TMEM26,missense_variant,p.Ser338Tyr,ENST00000503886,;TMEM26,downstream_gene_variant,,ENST00000488505,;	T	ENST00000399298	Transcript	missense_variant	1382/5151	1013/1107	338/368	S/Y	tCt/tAt		1		-1	TMEM26	HGNC	HGNC:28550	protein_coding	YES	CCDS41530.1	ENSP00000382237	Q6ZUK4		UPI00001C0B3F	NM_178505.6	deleterious(0.04)		6/6		hmmpanther:PTHR22168,hmmpanther:PTHR22168:SF3																	MODERATE	1	SNV	1			1										PASS		rs1266792461	.												T	3	4	74	61410416	61410416	G	T	1	0	0	0	0	1	0	0	0	16620	942	33	2		2	TMEM26	10	61410416	Missense_Mutation	SNP	G	C3N-01405_TP	1504186	61410416	72387006	256	24203											
MYPN	0	.	GRCh38	chr10	68158598	68158598	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagggactttaatagaagAttctccagattttaggattt	14	14	9	4	0	1	4	0	0	1	4	2	6	1	6	1	2	0	0	1	2	5	7	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.1430A>G	p.Asp477Gly	p.D477G	ENST00000358913	7/20	365	290	75	282	282	0	strelka-varscan-mutect	MYPN,missense_variant,p.Asp183Gly,ENST00000613327,NM_001256268.1;MYPN,missense_variant,p.Asp477Gly,ENST00000358913,NM_032578.3;MYPN,missense_variant,p.Asp477Gly,ENST00000540630,NM_001256267.1;MYPN,missense_variant,p.Asp202Gly,ENST00000354393,;MYPN,missense_variant,p.Asp477Gly,ENST00000373675,;RN7SKP202,downstream_gene_variant,,ENST00000410439,;	G	ENST00000358913	Transcript	missense_variant	1918/6013	1430/3963	477/1320	D/G	gAt/gGt		1		1	MYPN	HGNC	HGNC:23246	protein_coding	YES	CCDS7275.1	ENSP00000351790	Q86TC9		UPI00002288CF	NM_032578.3	deleterious(0.01)		7/20		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF617,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	68158598	68158598	A	G	1	0	0	0	0	1	0	0	0	10099	333	12	5		5	MYPN	10	68158598	Missense_Mutation	SNP	A	C3N-01405_TP	6748182	68158598	65638824	257	24204											
CDH23	0	.	GRCh38	chr10	71793340	71793340	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccatcgacagagaggagcagGagtcctacaggctaacggtg	12	5	14	10	2	0	1	0	0	0	1	2	5	1	3	2	4	3	2	2	4	2	2	rs111033473		C3N-01405_TP	C3N-01405_NB	G	G																c.6427G>C	p.Glu2143Gln	p.E2143Q	ENST00000224721	48/70	531	361	170	345	345	0	strelka-varscan-mutect	CDH23,missense_variant,p.Glu2143Gln,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Glu2138Gln,ENST00000622827,;CDH23,upstream_gene_variant,,ENST00000398788,NM_001171933.1;CDH23,upstream_gene_variant,,ENST00000619887,NM_001171934.1;MIR7152,downstream_gene_variant,,ENST00000619512,;CDH23,upstream_gene_variant,,ENST00000475158,;	C	ENST00000224721	Transcript	missense_variant	6817/11139	6427/10080	2143/3359	E/Q	Gag/Cag	rs111033473	1		1	CDH23	HGNC	HGNC:13733	protein_coding			ENSP00000224721		A0A0A0MQS6	UPI0002B831D5	NM_022124.5	tolerated(0.57)		48/70		PROSITE_profiles:PS50268,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313										likely_pathogenic							MODERATE		SNV	5		1	1										PASS		.	.												C	3	2	74	71793340	71793340	G	C	1	0	0	0	0	1	0	0	0	2811	1175	41	4		4	CDH23	10	71793340	Missense_Mutation	SNP	G	C3N-01405_TP	3634742	71793340	62004082	258	24205											
SEC24C	0	.	GRCh38	chr10	73769720	73769720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagaactgtgctagcccctCctctgcaggacaggtggggc	9	7	13	12	0	1	1	0	0	1	1	2	2	2	2	3	4	4	2	3	4	3	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.2669C>A	p.Ser890Tyr	p.S890Y	ENST00000339365	20/24	245	204	41	146	146	0	strelka-varscan-mutect	SEC24C,missense_variant,p.Ser890Tyr,ENST00000339365,NM_004922.3;SEC24C,missense_variant,p.Ser890Tyr,ENST00000345254,NM_198597.2;FUT11,upstream_gene_variant,,ENST00000394790,NM_001284194.1;FUT11,upstream_gene_variant,,ENST00000372841,NM_173540.2;RP11-574K11.32,non_coding_transcript_exon_variant,,ENST00000623453,;SEC24C,non_coding_transcript_exon_variant,,ENST00000496827,;FUT11,upstream_gene_variant,,ENST00000465695,;FUT11,upstream_gene_variant,,ENST00000489264,;SEC24C,missense_variant,p.Ser890Tyr,ENST00000465076,;SEC24C,3_prime_UTR_variant,,ENST00000635550,;	A	ENST00000339365	Transcript	missense_variant	2831/4513	2669/3285	890/1094	S/Y	tCc/tAc		1		1	SEC24C	HGNC	HGNC:10705	protein_coding	YES	CCDS7332.1	ENSP00000343405	P53992	A0A024QZM6	UPI000013F621	NM_004922.3	deleterious(0)		20/24		Pfam_domain:PF04815,hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF5,Superfamily_domains:SSF81811																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	74	73769720	73769720	C	A	1	0	0	0	0	1	0	0	0	14273	855	30	2		2	SEC24C	10	73769720	Missense_Mutation	SNP	C	C3N-01405_TP	1976380	73769720	60027702	259	24206											
MYOF	0	.	GRCh38	chr10	93329731	93329731	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatcggttttccagatcaaTaattgtttctcctacttttt	9	19	5	8	1	2	1	1	0	1	1	5	2	3	1	2	1	1	2	2	1	4	8	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.4915A>T	p.Ile1639Phe	p.I1639F	ENST00000359263	44/54	327	306	21	287	287	0	strelka-varscan-mutect	MYOF,missense_variant,p.Ile1639Phe,ENST00000359263,NM_013451.3;MYOF,missense_variant,p.Ile1626Phe,ENST00000358334,NM_133337.2;MYOF,non_coding_transcript_exon_variant,,ENST00000485212,;MYOF,missense_variant,p.Ile1033Phe,ENST00000463743,;	A	ENST00000359263	Transcript	missense_variant	4915/6719	4915/6186	1639/2061	I/F	Att/Ttt		1		-1	MYOF	HGNC	HGNC:3656	protein_coding	YES	CCDS41551.1	ENSP00000352208	Q9NZM1		UPI000012FBA1	NM_013451.3	deleterious(0)		44/54		Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF40,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	93329731	93329731	T	A	1	0	0	0	0	1	0	0	0	10090	1406	49	4		4	MYOF	10	93329731	Missense_Mutation	SNP	T	C3N-01405_TP	19560011	93329731	40467691	260	24207											
GLRX3	0	.	GRCh38	chr10	130175028	130175028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaaaagcttactcaaattGgccaacataccctcagctgt	14	11	5	11	0	2	0	2	0	0	0	2	0	2	0	2	1	5	2	2	1	6	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.896G>T	p.Trp299Leu	p.W299L	ENST00000368644	10/12	178	141	37	239	239	0	strelka-varscan-mutect	GLRX3,missense_variant,p.Trp299Leu,ENST00000368644,NM_001199868.1;GLRX3,missense_variant,p.Trp299Leu,ENST00000331244,NM_006541.4;GLRX3,upstream_gene_variant,,ENST00000496195,;GLRX3,missense_variant,p.Trp299Leu,ENST00000481034,;	T	ENST00000368644	Transcript	missense_variant	918/3827	896/1008	299/335	W/L	tGg/tTg		1		1	GLRX3	HGNC	HGNC:15987	protein_coding	YES	CCDS7661.1	ENSP00000357633	O76003	A0A140VJK1	UPI000006E4EA	NM_001199868.1	deleterious(0)		10/12		PROSITE_profiles:PS51354,hmmpanther:PTHR10293,hmmpanther:PTHR10293:SF40,TIGRFAM_domain:TIGR00365,Pfam_domain:PF00462,Gene3D:3.40.30.10,Superfamily_domains:SSF52833																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	74	130175028	130175028	G	T	1	0	0	0	0	1	0	0	0	6340	1357	47	2		2	GLRX3	10	130175028	Missense_Mutation	SNP	G	C3N-01405_TP	36845297	130175028	3622394	261	24208											
ADGRA1	0	.	GRCh38	chr10	133127242	133127242	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccccggcaggttttacctCgtcagcggaggggtcccctt	4	10	12	15	3	1	0	1	0	0	0	4	1	3	1	5	5	2	2	5	5	1	3			C3N-01405_TP	C3N-01405_NB	C	C																c.411C>T	p.=	p.L137L	ENST00000392607	6/7	69	51	18	58	58	0	strelka-varscan-mutect	ADGRA1,synonymous_variant,p.=,ENST00000607359,;ADGRA1,synonymous_variant,p.=,ENST00000392607,NM_001083909.2;ADGRA1,synonymous_variant,p.=,ENST00000392606,NM_001291085.1;	T	ENST00000392607	Transcript	synonymous_variant	847/4283	411/1683	137/560	L	ctC/ctT	COSM916440	1		1	ADGRA1	HGNC	HGNC:13838	protein_coding	YES	CCDS41580.1	ENSP00000376384	Q86SQ6		UPI00003D41AD	NM_001083909.2			6/7		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF261,Pfam_domain:PF00002											1						LOW	1	SNV	5		1	1										PASS		rs1309435104	.												T	2	4	74	133127242	133127242	C	T	1	0	0	0	0	0	0	0	1	352	871	31	1		1	ADGRA1	10	133127242	Silent	SNP	C	C3N-01405_TP	2952214	133127242	670180	262	24209											
ANO9	0	.	GRCh38	chr11	421013	421013	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatggccatctgcacgaaGaggtccatcatgcagccgct	10	8	11	12	2	2	2	1	1	1	1	3	3	3	2	3	2	3	3	3	2	1	0	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1422C>T	p.=	p.L474L	ENST00000332826	17/23	47	43	4	53	53	0	strelka-mutect	ANO9,synonymous_variant,p.=,ENST00000332826,NM_001012302.2;SIGIRR,upstream_gene_variant,,ENST00000332725,NM_021805.2,NM_001135053.1;SIGIRR,upstream_gene_variant,,ENST00000397632,;ANO9,non_coding_transcript_exon_variant,,ENST00000532094,;ANO9,non_coding_transcript_exon_variant,,ENST00000526142,;ANO9,non_coding_transcript_exon_variant,,ENST00000528927,;ANO9,non_coding_transcript_exon_variant,,ENST00000534161,;ANO9,non_coding_transcript_exon_variant,,ENST00000525804,;SIGIRR,upstream_gene_variant,,ENST00000527295,;ANO9,upstream_gene_variant,,ENST00000524802,;	A	ENST00000332826	Transcript	synonymous_variant	1507/2542	1422/2349	474/782	L	ctC/ctT		1		-1	ANO9	HGNC	HGNC:20679	protein_coding	YES	CCDS31326.1	ENSP00000332788	A1A5B4		UPI0001505B10	NM_001012302.2			17/23		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF37,Pfam_domain:PF04547																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	421013	421013	G	A	1	0	0	0	0	0	0	0	1	811	929	33	3		3	ANO9	11	421013	Silent	SNP	G	C3N-01405_TP		421013	134665609	263	24210											
HRAS	0	.	GRCh38	chr11	532690	532690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggccactctcatcaggaggGttcagcttccgcagcttgtg	6	10	13	12	1	3	0	3	0	1	0	5	1	4	1	2	3	2	4	2	3	0	3	rs765180494		C3N-01405_TP	C3N-01405_NB	G	G																c.516C>A	p.Asn172Lys	p.N172K	ENST00000451590	5/5	382	336	46	293	293	0	strelka-varscan-mutect	HRAS,missense_variant,p.Asn172Lys,ENST00000451590,NM_005343.2,NM_001130442.1;HRAS,missense_variant,p.Asn172Lys,ENST00000397596,;HRAS,missense_variant,p.Asn172Lys,ENST00000311189,;HRAS,3_prime_UTR_variant,,ENST00000417302,NM_176795.3;HRAS,3_prime_UTR_variant,,ENST00000397594,;LRRC56,upstream_gene_variant,,ENST00000270115,NM_198075.3;RP13-46H24.1,downstream_gene_variant,,ENST00000526431,;HRAS,non_coding_transcript_exon_variant,,ENST00000462734,;HRAS,non_coding_transcript_exon_variant,,ENST00000479482,;HRAS,intron_variant,,ENST00000478324,;HRAS,downstream_gene_variant,,ENST00000468682,;HRAS,downstream_gene_variant,,ENST00000482021,;HRAS,3_prime_UTR_variant,,ENST00000493230,NM_001318054.1;	T	ENST00000451590	Transcript	missense_variant	704/1151	516/570	172/189	N/K	aaC/aaA	rs765180494	1		-1	HRAS	HGNC	HGNC:5173	protein_coding	YES	CCDS7698.1	ENSP00000407586	P01112	X5D945	UPI0000001251	NM_005343.2,NM_001130442.1	tolerated(0.22)		5/5		PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF184																	MODERATE		SNV	2			1										PASS		rs765180494	.												T	3	4	74	532690	532690	G	T	1	0	0	0	0	1	0	0	0	7243	1252	44	2		2	HRAS	11	532690	Missense_Mutation	SNP	G	C3N-01405_TP	111677	532690	134553932	264	24211											
BRSK2	0	.	GRCh38	chr11	1443362	1443362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtatgacggccggaaggcgGacgtgtggagctgcggcgtc	7	6	19	9	6	0	1	0	1	0	0	1	4	0	4	1	6	2	2	1	6	2	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.730G>A	p.Asp244Asn	p.D244N	ENST00000382179	7/20	120	86	34	115	115	0	strelka-varscan-mutect	BRSK2,missense_variant,p.Asp198Asn,ENST00000308219,NM_003957.3;BRSK2,missense_variant,p.Asp198Asn,ENST00000528841,NM_001256627.1;BRSK2,missense_variant,p.Asp244Asn,ENST00000382179,NM_001256630.1;BRSK2,missense_variant,p.Asp138Asn,ENST00000528710,NM_001282218.1;BRSK2,missense_variant,p.Asp198Asn,ENST00000531197,NM_001256629.1;BRSK2,missense_variant,p.Asp198Asn,ENST00000526678,;BRSK2,downstream_gene_variant,,ENST00000528596,;BRSK2,downstream_gene_variant,,ENST00000524702,;BRSK2,missense_variant,p.Asp198Asn,ENST00000529433,;BRSK2,missense_variant,p.Asp104Asn,ENST00000529951,;BRSK2,non_coding_transcript_exon_variant,,ENST00000531078,;	A	ENST00000382179	Transcript	missense_variant	983/3576	730/2301	244/766	D/N	Gac/Aac		1		1	BRSK2	HGNC	HGNC:11405	protein_coding	YES	CCDS58108.1	ENSP00000371614	Q8IWQ3		UPI000035E827	NM_001256630.1	deleterious(0)		7/20		PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF84,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	74	1443362	1443362	G	A	1	0	0	0	0	1	0	0	0	1698	1174	41	3		3	BRSK2	11	1443362	Missense_Mutation	SNP	G	C3N-01405_TP	910672	1443362	133643260	265	24212											
OR51B4	0	.	GRCh38	chr11	5301169	5301169	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcatgtttcccaaaccTgtgaatgaatgacagtccca	12	10	9	10	0	0	3	0	3	0	0	2	3	2	3	3	1	2	2	3	1	3	1	rs772754106		C3N-01405_TP	C3N-01405_NB	T	T																c.778A>T	p.Arg260Trp	p.R260W	ENST00000380224	1/1	182	141	41	169	169	0	strelka-varscan-mutect	OR51B4,missense_variant,p.Arg260Trp,ENST00000380224,NM_033179.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,downstream_gene_variant,,ENST00000420465,;	A	ENST00000380224	Transcript	missense_variant	828/983	778/933	260/310	R/W	Agg/Tgg	rs772754106	1		-1	OR51B4	HGNC	HGNC:14708	protein_coding	YES	CCDS7757.1	ENSP00000369573	Q9Y5P0		UPI0000041B31	NM_033179.2	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF154,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs772754106	.												A	3	1	74	5301169	5301169	T	A	1	0	0	0	0	1	0	0	0	11164	1579	55	4		4	OR51B4	11	5301169	Missense_Mutation	SNP	T	C3N-01405_TP	3857807	5301169	129785453	266	24213											
TRIM34	0	.	GRCh38	chr11	5634763	5634763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacgctggataagtttgcaGaggctgaggatgagctagtt	11	10	15	5	1	0	4	0	2	0	2	0	6	0	6	0	3	2	6	0	3	2	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1714G>A	p.Glu572Lys	p.E572K	ENST00000354852	10/14	154	112	42	189	189	0	strelka-varscan-mutect	TRIM6-TRIM34,missense_variant,p.Glu572Lys,ENST00000354852,NM_001003819.3;TRIM34,missense_variant,p.Glu218Lys,ENST00000514226,NM_001003827.1;TRIM34,missense_variant,p.Glu218Lys,ENST00000429814,NM_021616.5;HBG2,intron_variant,,ENST00000380259,;TRIM34,upstream_gene_variant,,ENST00000495668,;TRIM34,non_coding_transcript_exon_variant,,ENST00000491385,;	A	ENST00000354852	Transcript	missense_variant	1887/3391	1714/2529	572/842	E/K	Gag/Aag		1		1	TRIM6-TRIM34	HGNC	HGNC:33440	protein_coding	YES	CCDS31388.1	ENSP00000346916		B2RNG4	UPI000041A254	NM_001003819.3	tolerated(0.27)		10/14		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103:SF51,hmmpanther:PTHR24103																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	74	5634763	5634763	G	A	1	0	0	0	0	1	0	0	0	16997	943	33	3		3	TRIM34	11	5634763	Missense_Mutation	SNP	G	C3N-01405_TP	333594	5634763	129451859	267	24214											
OR10A2	0	.	GRCh38	chr11	6870085	6870085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcatatgaccgctatGtggccatctgcagtcccttg	7	11	10	13	1	1	1	0	1	1	0	2	1	2	1	4	2	1	3	4	2	2	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.331G>C	p.Val111Leu	p.V111L	ENST00000307322	1/1	273	199	74	259	259	0	strelka-varscan-mutect	OR10A2,missense_variant,p.Val111Leu,ENST00000307322,NM_001004460.1;RP11-413N10.3,intron_variant,,ENST00000637205,;	C	ENST00000307322	Transcript	missense_variant	393/1053	331/912	111/303	V/L	Gtg/Ctg		1		1	OR10A2	HGNC	HGNC:8161	protein_coding	YES	CCDS31415.1	ENSP00000303862	Q9H208		UPI000015F21C	NM_001004460.1	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF148,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	74	6870085	6870085	G	C	1	0	0	0	0	1	0	0	0	10966	1377	48	4		4	OR10A2	11	6870085	Missense_Mutation	SNP	G	C3N-01405_TP	1235322	6870085	128216537	268	24215											
SAAL1	0	.	GRCh38	chr11	18092245	18092245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aattatatagtaagacttacCcaagatttttatcactgctg	14	15	5	7	0	1	2	1	0	0	2	1	2	1	2	1	0	2	2	1	0	8	8	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.413G>T	p.Gly138Val	p.G138V	ENST00000524803	4/12	135	92	43	150	149	1	strelka-varscan-mutect	SAAL1,missense_variant,p.Gly138Val,ENST00000524803,NM_138421.2;SAAL1,missense_variant,p.Gly138Val,ENST00000300013,;SAAL1,missense_variant,p.Gly138Val,ENST00000529318,;SAAL1,missense_variant,p.Gly27Val,ENST00000531751,;SAAL1,missense_variant,p.Gly138Val,ENST00000530180,;SAAL1,intron_variant,,ENST00000532452,;SAAL1,upstream_gene_variant,,ENST00000530436,;SAAL1,splice_region_variant,,ENST00000533851,;SAAL1,downstream_gene_variant,,ENST00000530736,;SAAL1,missense_variant,p.Gly138Val,ENST00000531581,;SAAL1,upstream_gene_variant,,ENST00000528002,;	A	ENST00000524803	Transcript	missense_variant,splice_region_variant	463/1582	413/1425	138/474	G/V	gGg/gTg		1		-1	SAAL1	HGNC	HGNC:25158	protein_coding	YES	CCDS31439.1	ENSP00000432487	Q96ER3	G1UCX3	UPI00001F9E3B	NM_138421.2	tolerated(0.34)		4/12		Gene3D:1.25.10.10,hmmpanther:PTHR23424,hmmpanther:PTHR23424:SF4,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	18092245	18092245	C	A	1	0	0	0	0	1	0	0	0	14060	637	22	2		2	SAAL1	11	18092245	Missense_Mutation	SNP	C	C3N-01405_TP	11222160	18092245	116994377	269	24216											
NAV2	0	.	GRCh38	chr11	20054091	20054091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtccaggtatactcccaCctcccagcttcgcacgcaag	8	9	7	17	2	1	0	0	0	1	0	5	0	4	0	4	1	2	4	4	1	3	3	rs751924820		C3N-01405_TP	C3N-01405_NB	C	C																c.4562C>T	p.Thr1521Ile	p.T1521I	ENST00000396087	19/41	220	161	59	238	238	0	strelka-varscan-mutect	NAV2,missense_variant,p.Thr1521Ile,ENST00000527559,;NAV2,missense_variant,p.Thr1498Ile,ENST00000540292,;NAV2,missense_variant,p.Thr1498Ile,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.Thr1498Ile,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.Thr1434Ile,ENST00000360655,NM_001111018.1;NAV2,missense_variant,p.Thr1521Ile,ENST00000396087,NM_001244963.1;NAV2,missense_variant,p.Thr562Ile,ENST00000533917,NM_001111019.2;NAV2,missense_variant,p.Thr547Ile,ENST00000525322,;NAV2-AS2,upstream_gene_variant,,ENST00000533767,;	T	ENST00000396087	Transcript	missense_variant	4661/7882	4562/7467	1521/2488	T/I	aCc/aTc	rs751924820	1		1	NAV2	HGNC	HGNC:15997	protein_coding	YES	CCDS58126.1	ENSP00000379396	Q8IVL1		UPI00001E0580	NM_001244963.1	deleterious(0)		19/41		hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784																	MODERATE		SNV	5			1										PASS		rs751924820	.												T	3	4	74	20054091	20054091	C	T	1	0	0	0	0	1	0	0	0	10193	507	18	3		3	NAV2	11	20054091	Missense_Mutation	SNP	C	C3N-01405_TP	1961846	20054091	115032531	270	24217											
CCDC73	0	.	GRCh38	chr11	32614594	32614594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttaaaatactgttaaatGatgttttgttattttcaacc	13	19	4	5	0	1	1	1	1	0	0	1	1	1	1	1	0	2	3	1	0	7	9	rs562518207		C3N-01405_TP	C3N-01405_NB	G	G																c.1724C>T	p.Ser575Leu	p.S575L	ENST00000335185	16/18	109	75	34	155	155	0	strelka-varscan-mutect	CCDC73,missense_variant,p.Ser575Leu,ENST00000335185,NM_001008391.3;CCDC73,intron_variant,,ENST00000528333,;CCDC73,downstream_gene_variant,,ENST00000534415,;	A	ENST00000335185	Transcript	missense_variant	1768/3849	1724/3240	575/1079	S/L	tCa/tTa	rs562518207	1		-1	CCDC73	HGNC	HGNC:23261	protein_coding	YES	CCDS41630.1	ENSP00000335325	Q6ZRK6		UPI000066725E	NM_001008391.3	tolerated(0.16)		16/18		Pfam_domain:PF15818,hmmpanther:PTHR28660,hmmpanther:PTHR28660:SF1																	MODERATE	1	SNV	2			1										PASS		rs562518207	.												A	3	1	74	32614594	32614594	G	A	1	0	0	0	0	1	0	0	0	2546	1294	45	3		3	CCDC73	11	32614594	Missense_Mutation	SNP	G	C3N-01405_TP	12560503	32614594	102472028	271	24218											
TRIM44	0	.	GRCh38	chr11	35663169	35663169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcacgacggcacgtgtgacGagtgcgagcccgacgaggct	8	5	15	13	7	1	1	1	1	0	0	1	6	1	1	1	2	2	2	1	2	0	0	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.58G>A	p.Glu20Lys	p.E20K	ENST00000299413	1/5	23	14	9	14	14	0	strelka-varscan-mutect	TRIM44,missense_variant,p.Glu20Lys,ENST00000299413,NM_017583.5;RP1-276E15.1,downstream_gene_variant,,ENST00000525573,;	A	ENST00000299413	Transcript	missense_variant	365/12964	58/1035	20/344	E/K	Gag/Aag		1		1	TRIM44	HGNC	HGNC:19016	protein_coding	YES	CCDS31461.1	ENSP00000299413	Q96DX7		UPI00000725C5	NM_017583.5	tolerated(0.15)		1/5		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF365																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	35663169	35663169	G	A	1	0	0	0	0	1	0	0	0	17009	1059	37	1		1	TRIM44	11	35663169	Missense_Mutation	SNP	G	C3N-01405_TP	3048575	35663169	99423453	272	24219											
OR4C15	0	.	GRCh38	chr11	55554413	55554413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaaattttcctttgtcCtaattgcagactatacatga	13	14	6	8	0	0	2	0	1	0	1	2	3	2	2	2	0	3	2	2	0	5	7	rs757414964		C3N-01405_TP	C3N-01405_NB	C	C																c.107C>A	p.Pro36His	p.P36H	ENST00000314644	1/1	188	154	34	261	260	1	strelka-varscan-mutect	OR4C15,missense_variant,p.Pro36His,ENST00000314644,NM_001001920.1;	A	ENST00000314644	Transcript	missense_variant	107/1113	107/1113	36/370	P/H	cCt/cAt	rs757414964,COSM145722	1		1	OR4C15	HGNC	HGNC:15171	protein_coding	YES	CCDS31501.1	ENSP00000324958	Q8NGM1		UPI00003B288E	NM_001001920.1	tolerated_low_confidence(0.23)		1/1													0,1						MODERATE	1	SNV			0,1	1										PASS		rs757414964	.												A	3	1	74	55554413	55554413	C	A	1	0	0	0	0	1	0	0	0	11125	681	24	2		2	OR4C15	11	55554413	Missense_Mutation	SNP	C	C3N-01405_TP	19891244	55554413	79532209	273	24220											
OR5D14	0	.	GRCh38	chr11	55795696	55795696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaggaaaccttgggatGatcataataatcaagattaa	16	11	10	4	0	2	2	2	1	0	1	2	4	2	4	1	3	1	1	1	3	6	5			C3N-01405_TP	C3N-01405_NB	G	G																c.141G>T	p.Met47Ile	p.M47I	ENST00000335605	1/1	101	77	24	127	127	0	strelka-varscan-mutect	OR5D14,missense_variant,p.Met47Ile,ENST00000335605,NM_001004735.1;	T	ENST00000335605	Transcript	missense_variant	141/945	141/945	47/314	M/I	atG/atT	COSM4194741	1		1	OR5D14	HGNC	HGNC:15281	protein_coding	YES	CCDS31508.1	ENSP00000334456	Q8NGL3		UPI000004B1F6	NM_001004735.1	tolerated(0.14)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF67,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	74	55795696	55795696	G	T	1	0	0	0	0	1	0	0	0	11225	1290	45	2		2	OR5D14	11	55795696	Missense_Mutation	SNP	G	C3N-01405_TP	241283	55795696	79290926	274	24221											
OR5W2	0	.	GRCh38	chr11	55913981	55913981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcaataaaaccaaagacgGtgaataacactaactcattg	18	9	6	8	1	2	2	2	1	0	1	2	2	2	2	1	1	3	1	1	1	7	5	rs781229540		C3N-01405_TP	C3N-01405_NB	G	G																c.602C>A	p.Thr201Asn	p.T201N	ENST00000344514	1/1	115	84	31	103	103	0	strelka-mutect	OR5W2,missense_variant,p.Thr201Asn,ENST00000344514,NM_001001960.1;	T	ENST00000344514	Transcript	missense_variant	602/933	602/933	201/310	T/N	aCc/aAc	rs781229540	1		-1	OR5W2	HGNC	HGNC:15299	protein_coding	YES	CCDS31513.1	ENSP00000342448	Q8NH69		UPI0000061E8D	NM_001001960.1	deleterious(0.03)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF58,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs781229540	.												T	3	4	74	55913981	55913981	G	T	1	0	0	0	0	1	0	0	0	11253	1261	44	2		2	OR5W2	11	55913981	Missense_Mutation	SNP	G	C3N-01405_TP	118285	55913981	79172641	275	24222											
OR5M11	0	.	GRCh38	chr11	56543231	56543231	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtaaaatgaattctgtGattgcactgccatttgtgtt	11	15	8	7	0	1	2	0	2	1	0	1	2	1	2	2	0	2	3	2	0	4	5	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.27C>A	p.=	p.I9I	ENST00000528616	1/1	75	55	20	79	79	0	strelka-varscan-mutect	OR5M11,synonymous_variant,p.=,ENST00000528616,NM_001005245.1;	T	ENST00000528616	Transcript	synonymous_variant	27/918	27/918	9/305	I	atC/atA		1		-1	OR5M11	HGNC	HGNC:15291	protein_coding	YES	CCDS53629.1	ENSP00000432417	Q96RB7	A0A126GVL9	UPI00000405CF	NM_001005245.1			1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF97,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	74	56543231	56543231	G	T	1	0	0	0	0	0	0	0	1	11243	1280	45	2		2	OR5M11	11	56543231	Silent	SNP	G	C3N-01405_TP	629250	56543231	78543391	276	24223											
OR5AP2	0	.	GRCh38	chr11	56642035	56642035	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgagaactgggtagagcagGgggttccaaatggctgcata	12	7	15	7	1	0	2	0	0	0	2	1	3	1	2	1	4	3	5	1	4	4	3	rs374654172		C3N-01405_TP	C3N-01405_NB	G	G																c.405C>T	p.=	p.P135P	ENST00000302981	1/1	178	127	51	157	156	1	strelka-varscan-mutect	OR5AP2,synonymous_variant,p.=,ENST00000544374,;OR5AP2,synonymous_variant,p.=,ENST00000302981,NM_001002925.1;	A	ENST00000302981	Transcript	synonymous_variant	405/951	405/951	135/316	P	ccC/ccT	rs374654172,COSM5296543	1		-1	OR5AP2	HGNC	HGNC:15258	protein_coding	YES	CCDS31534.1	ENSP00000303111	Q8NGF4		UPI0000061EE6	NM_001002925.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF151,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245											0,1						LOW	1	SNV			0,1	1										PASS		rs374654172	.												A	2	1	74	56642035	56642035	G	A	1	0	0	0	0	0	0	0	1	11216	1219	43	3		3	OR5AP2	11	56642035	Silent	SNP	G	C3N-01405_TP	98804	56642035	78444587	277	24224											
GLYAT	0	.	GRCh38	chr11	58715347	58715347	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagacaaccactgtattaAaatcaggccacttgtccacc	13	8	7	13	0	1	1	1	0	0	1	2	1	2	1	4	2	1	2	4	2	4	3	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.158T>A	p.Phe53Tyr	p.F53Y	ENST00000611865	2/5	149	109	40	167	167	0	strelka-varscan-mutect	GLYAT,missense_variant,p.Phe53Tyr,ENST00000611865,;GLYAT,missense_variant,p.Phe53Tyr,ENST00000344743,NM_201648.2;GLYAT,missense_variant,p.Phe53Tyr,ENST00000278400,NM_005838.3;GLYAT,missense_variant,p.Phe53Tyr,ENST00000529732,;GLYAT,upstream_gene_variant,,ENST00000586098,;	T	ENST00000611865	Transcript	missense_variant	158/1899	158/891	53/296	F/Y	tTt/tAt		1		-1	GLYAT	HGNC	HGNC:13734	protein_coding	YES	CCDS7970.1	ENSP00000484592	Q6IB77		UPI00003667C7		tolerated(0.58)		2/5		hmmpanther:PTHR15298:SF9,hmmpanther:PTHR15298,Pfam_domain:PF06021,Superfamily_domains:SSF55729																	MODERATE	1	SNV	3			1										PASS		.	.												T	3	4	74	58715347	58715347	A	T	1	0	0	0	0	1	0	0	0	6356	14	1	4		4	GLYAT	11	58715347	Missense_Mutation	SNP	A	C3N-01405_TP	2073312	58715347	76371275	278	24225											
OR5A1	0	.	GRCh38	chr11	59443519	59443519	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtctgtctgagtgcctcctCctgactgctatggcatacga	6	12	11	12	1	2	2	0	2	2	0	4	3	4	2	3	2	3	2	3	2	2	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.351C>T	p.=	p.L117L	ENST00000302030	1/1	157	143	14	105	105	0	strelka-varscan-mutect	OR5A1,synonymous_variant,p.=,ENST00000302030,NM_001004728.1;	T	ENST00000302030	Transcript	synonymous_variant	376/1051	351/948	117/315	L	ctC/ctT		1		1	OR5A1	HGNC	HGNC:8319	protein_coding	YES	CCDS31561.1	ENSP00000303096	Q8NGJ0		UPI0000041C97	NM_001004728.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF354,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	74	59443519	59443519	C	T	1	0	0	0	0	0	0	0	1	11211	842	30	3		3	OR5A1	11	59443519	Silent	SNP	C	C3N-01405_TP	728172	59443519	75643103	279	24226											
FLRT1	0	.	GRCh38	chr11	64117356	64117356	+	Frame_Shift_Del	DEL	C	C	-																															tgccagggccctgagaaggtCcggggcatggccatcaagga																								rs550169038		C3N-01405_TP	C3N-01405_NB	C	C																c.1090delC	p.Arg364GlyfsTer80	p.R364Gfs*80	ENST00000246841	2/2	77	63	14	85	85	0	sindel-varindel-pindel	FLRT1,frameshift_variant,p.Arg364GlyfsTer80,ENST00000246841,NM_013280.4;MACROD1,intron_variant,,ENST00000255681,NM_014067.3;RP11-21A7A.3,downstream_gene_variant,,ENST00000543817,;MACROD1,intron_variant,,ENST00000542359,;MACROD1,intron_variant,,ENST00000543422,;MACROD1,intron_variant,,ENST00000545464,;	-	ENST00000246841	Transcript	frameshift_variant	2132/3949	1089/2025	363/674	V/X	gtC/gt	rs550169038	1		1	FLRT1	HGNC	HGNC:3760	protein_coding	YES	CCDS8057.1	ENSP00000246841	Q9NZU1		UPI0000039F94	NM_013280.4			2/2		Gene3D:3.80.10.10,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF30,SMART_domains:SM00082,Superfamily_domains:SSF52058																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	74	64117356	64117356	C	-	1	0	1	0	1	0	0	0	0	5794	842	30	0		0	FLRT1	11	64117356	Frame_Shift_Del	DEL	C	C3N-01405_TP	4673837	64117356	70969266	280	24227											
CDC42BPG	0	.	GRCh38	chr11	64829618	64829618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcctcacccaggccccCgcgggatggtggcagctcct	5	6	13	17	2	1	0	1	0	0	0	2	1	2	1	5	4	2	2	5	4	0	0	rs374392572		C3N-01405_TP	C3N-01405_NB	C	C																c.3820G>T	p.Gly1274Trp	p.G1274W	ENST00000342711	30/37	423	321	102	311	311	0	strelka-varscan-mutect	CDC42BPG,missense_variant,p.Gly1274Trp,ENST00000342711,NM_017525.2;CDC42BPG,downstream_gene_variant,,ENST00000491280,;CDC42BPG,downstream_gene_variant,,ENST00000468512,;CDC42BPG,downstream_gene_variant,,ENST00000480767,;	A	ENST00000342711	Transcript	missense_variant	3820/5742	3820/4656	1274/1551	G/W	Ggg/Tgg	rs374392572	1		-1	CDC42BPG	HGNC	HGNC:29829	protein_coding	YES	CCDS31601.1	ENSP00000345133	Q6DT37		UPI000047C9E2	NM_017525.2	tolerated(0.18)		30/37		Low_complexity_(Seg):seg,PROSITE_profiles:PS50219,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF22,Pfam_domain:PF00780,SMART_domains:SM00036																	MODERATE	1	SNV	1			1										PASS		rs374392572	.												A	3	1	74	64829618	64829618	C	A	1	0	0	0	0	1	0	0	0	2777	652	23	1		1	CDC42BPG	11	64829618	Missense_Mutation	SNP	C	C3N-01405_TP	712262	64829618	70257004	281	24228											
EED	0	.	GRCh38	chr11	86245330	86245330	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacagcaatccagacctctCtggagacgagaatgtaagtg	14	7	11	9	1	1	3	0	0	1	3	3	6	2	3	2	1	2	2	2	1	4	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.101C>G	p.Ser34Cys	p.S34C	ENST00000351625	1/13	262	201	61	187	187	0	strelka-varscan-mutect	EED,missense_variant,p.Ser34Cys,ENST00000263360,NM_003797.3;EED,missense_variant,p.Ser34Cys,ENST00000327320,NM_152991.2;EED,missense_variant,p.Ser34Cys,ENST00000528180,;EED,missense_variant,p.Ser34Cys,ENST00000351625,NM_001308007.1;EED,missense_variant,p.Ser33Cys,ENST00000534595,;EED,non_coding_transcript_exon_variant,,ENST00000525244,;	G	ENST00000351625	Transcript	missense_variant	108/1696	101/1401	34/466	S/C	tCt/tGt		1		1	EED	HGNC	HGNC:3188	protein_coding	YES	CCDS76463.1	ENSP00000338186	O75530		UPI00003534F9	NM_001308007.1	deleterious(0)		1/13		hmmpanther:PTHR10253																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	86245330	86245330	C	G	1	0	0	0	0	1	0	0	0	4751	913	32	4		4	EED	11	86245330	Missense_Mutation	SNP	C	C3N-01405_TP	21415712	86245330	48841292	282	24229											
CNTN5	0	.	GRCh38	chr11	100193648	100193648	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagagggtggacatttTgaaagcatcagggccgtaag	13	7	16	5	1	1	2	1	1	0	1	1	5	1	4	1	4	1	2	1	4	3	3	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.1869T>A	p.Phe623Leu	p.F623L	ENST00000524871	15/25	239	183	56	269	269	0	strelka-varscan-mutect	CNTN5,missense_variant,p.Phe623Leu,ENST00000524871,NM_014361.3;CNTN5,missense_variant,p.Phe607Leu,ENST00000279463,;CNTN5,missense_variant,p.Phe545Leu,ENST00000619298,;CNTN5,missense_variant,p.Phe623Leu,ENST00000527185,NM_001243271.1;CNTN5,missense_variant,p.Phe623Leu,ENST00000528682,NM_001243270.1;CNTN5,missense_variant,p.Phe549Leu,ENST00000418526,NM_175566.2;CNTN5,non_coding_transcript_exon_variant,,ENST00000524560,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	A	ENST00000524871	Transcript	missense_variant	2159/6258	1869/3303	623/1100	F/L	ttT/ttA		1		1	CNTN5	HGNC	HGNC:2175	protein_coding	YES	CCDS53696.1	ENSP00000435637	O94779		UPI000006DAB0	NM_014361.3	deleterious(0.04)		15/25		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	100193648	100193648	T	A	1	0	0	0	0	1	0	0	0	3425	1809	63	4		4	CNTN5	11	100193648	Missense_Mutation	SNP	T	C3N-01405_TP	13948318	100193648	34892974	283	24230											
GUCY1A2	0	.	GRCh38	chr11	107017907	107017907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcggcagctgcggccGggctgggctccagcggcccg	3	3	19	16	6	0	0	0	0	0	0	1	0	1	0	3	6	4	5	3	6	0	0	rs772392728		C3N-01405_TP	C3N-01405_NB	G	G																c.149C>A	p.Pro50Gln	p.P50Q	ENST00000282249	1/9	50	38	12	47	47	0	strelka-varscan-mutect	GUCY1A2,missense_variant,p.Pro50Gln,ENST00000526355,NM_000855.2;GUCY1A2,missense_variant,p.Pro50Gln,ENST00000282249,NM_001256424.1;GUCY1A2,missense_variant,p.Pro50Gln,ENST00000347596,;	T	ENST00000282249	Transcript	missense_variant	539/3047	149/2292	50/763	P/Q	cCg/cAg	rs772392728	1		-1	GUCY1A2	HGNC	HGNC:4684	protein_coding	YES	CCDS58170.1	ENSP00000282249	P33402		UPI000002A79C	NM_001256424.1	tolerated_low_confidence(0.23)		1/9		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs772392728	.												T	3	4	74	107017907	107017907	G	T	1	0	0	0	0	1	0	0	0	6775	1116	39	1		1	GUCY1A2	11	107017907	Missense_Mutation	SNP	G	C3N-01405_TP	6824259	107017907	28068715	284	24231											
NCAM1	0	.	GRCh38	chr11	113260246	113260246	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtatgaggtctacgtggTggctgagaaccagcaaggaa	12	8	15	6	1	1	3	0	3	1	1	1	5	1	4	1	4	3	3	1	4	5	2	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.2132T>A	p.Val711Glu	p.V711E	ENST00000619839	18/21	244	216	28	189	189	0	strelka-varscan-mutect	NCAM1,missense_variant,p.Val711Glu,ENST00000615285,;NCAM1,missense_variant,p.Val685Glu,ENST00000615112,;NCAM1,missense_variant,p.Val675Glu,ENST00000618266,;NCAM1,missense_variant,p.Val685Glu,ENST00000316851,NM_181351.4;NCAM1,missense_variant,p.Val710Glu,ENST00000621518,;NCAM1,missense_variant,p.Val675Glu,ENST00000621128,NM_001242608.1;NCAM1,missense_variant,p.Val711Glu,ENST00000619839,NM_001242607.1;NCAM1,missense_variant,p.Val675Glu,ENST00000531044,NM_000615.6;NCAM1,missense_variant,p.Val710Glu,ENST00000621850,NM_001076682.3;NCAM1,missense_variant,p.Val674Glu,ENST00000401611,;NCAM1,missense_variant,p.Val23Glu,ENST00000528158,;NCAM1,missense_variant,p.Val184Glu,ENST00000533073,;NCAM1,missense_variant,p.Val254Glu,ENST00000526322,;NCAM1,missense_variant,p.Val199Glu,ENST00000528590,;NCAM1,missense_variant,p.Val93Glu,ENST00000620046,;NCAM1,missense_variant,p.Val52Glu,ENST00000524916,;NCAM1,downstream_gene_variant,,ENST00000530543,;NCAM1,non_coding_transcript_exon_variant,,ENST00000611284,;NCAM1,3_prime_UTR_variant,,ENST00000531817,;NCAM1,non_coding_transcript_exon_variant,,ENST00000525691,;NCAM1,non_coding_transcript_exon_variant,,ENST00000530090,;NCAM1,non_coding_transcript_exon_variant,,ENST00000534516,;NCAM1,non_coding_transcript_exon_variant,,ENST00000525355,;	A	ENST00000619839	Transcript	missense_variant	2470/2993	2132/2655	711/884	V/E	gTg/gAg		1		1	NCAM1	HGNC	HGNC:7656	protein_coding	YES	CCDS73384.1	ENSP00000480132		A0A087WWD4	UPI00021269F1	NM_001242607.1	deleterious(0)		18/21		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF34,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	74	113260246	113260246	T	A	1	0	0	0	0	1	0	0	0	10218	1696	59	4		4	NCAM1	11	113260246	Missense_Mutation	SNP	T	C3N-01405_TP	6242339	113260246	21826376	285	24232											
H2AFX	0	.	GRCh38	chr11	119095298	119095298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccttccgcagcagccGgtgtacacggcccactggga	6	6	14	15	3	0	0	0	0	0	0	1	1	1	1	4	4	3	3	4	4	1	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.97C>T	p.Arg33Trp	p.R33W	ENST00000530167	1/1	129	117	12	87	87	0	strelka-varscan-mutect	H2AFX,missense_variant,p.Arg33Trp,ENST00000530167,NM_002105.2;DPAGT1,downstream_gene_variant,,ENST00000409993,;DPAGT1,downstream_gene_variant,,ENST00000354202,NM_001382.3;HMBS,downstream_gene_variant,,ENST00000537841,;HMBS,downstream_gene_variant,,ENST00000442944,;HMBS,downstream_gene_variant,,ENST00000278715,NM_000190.3;HMBS,downstream_gene_variant,,ENST00000542729,NM_001258209.1;HMBS,downstream_gene_variant,,ENST00000392841,NM_001024382.1;HMBS,downstream_gene_variant,,ENST00000544387,NM_001258208.1;HMBS,downstream_gene_variant,,ENST00000543090,;HMBS,downstream_gene_variant,,ENST00000539986,;HMBS,downstream_gene_variant,,ENST00000535253,;HMBS,downstream_gene_variant,,ENST00000546302,;DPAGT1,downstream_gene_variant,,ENST00000636404,;HMBS,downstream_gene_variant,,ENST00000534956,;H2AFX,missense_variant,p.Arg33Trp,ENST00000375167,;DPAGT1,downstream_gene_variant,,ENST00000481084,;DPAGT1,downstream_gene_variant,,ENST00000461999,;HMBS,downstream_gene_variant,,ENST00000546226,;DPAGT1,downstream_gene_variant,,ENST00000392834,;HMBS,downstream_gene_variant,,ENST00000543543,;DPAGT1,downstream_gene_variant,,ENST00000414373,;HMBS,downstream_gene_variant,,ENST00000542044,;HMBS,downstream_gene_variant,,ENST00000544182,;HMBS,downstream_gene_variant,,ENST00000545621,;DPAGT1,downstream_gene_variant,,ENST00000533687,;DPAGT1,downstream_gene_variant,,ENST00000525456,;DPAGT1,downstream_gene_variant,,ENST00000442480,;HMBS,downstream_gene_variant,,ENST00000542822,;HMBS,downstream_gene_variant,,ENST00000542345,;HMBS,downstream_gene_variant,,ENST00000539045,;HMBS,downstream_gene_variant,,ENST00000535793,;DPAGT1,downstream_gene_variant,,ENST00000530052,;HMBS,downstream_gene_variant,,ENST00000544360,;DPAGT1,downstream_gene_variant,,ENST00000524658,;	A	ENST00000530167	Transcript	missense_variant	170/1614	97/432	33/143	R/W	Cgg/Tgg		1		-1	H2AFX	HGNC	HGNC:4739	protein_coding	YES	CCDS8410.1	ENSP00000434024	P16104		UPI0000048D69	NM_002105.2	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR23430,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620																	MODERATE		SNV				1										PASS		rs1364679785	.												A	3	1	74	119095298	119095298	G	A	1	0	0	0	0	1	0	0	0	6809	1115	39	1		1	H2AFX	11	119095298	Missense_Mutation	SNP	G	C3N-01405_TP	5835052	119095298	15991324	286	24233											
BSX	0	.	GRCh38	chr11	122981577	122981577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggccacctctctcagcGgcttgggcttgtgcagcagg	4	9	15	13	1	2	0	1	0	1	0	3	0	2	0	2	5	3	4	2	5	0	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.95C>A	p.Pro32Gln	p.P32Q	ENST00000343035	1/3	166	133	33	139	139	0	strelka-varscan-mutect	BSX,missense_variant,p.Pro32Gln,ENST00000343035,NM_001098169.1;	T	ENST00000343035	Transcript	missense_variant	144/830	95/702	32/233	P/Q	cCg/cAg		1		-1	BSX	HGNC	HGNC:20450	protein_coding	YES	CCDS41728.1	ENSP00000344285	Q3C1V8		UPI000036683F	NM_001098169.1	deleterious(0.05)		1/3		hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF35																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	74	122981577	122981577	G	T	1	0	0	0	0	1	0	0	0	1710	1116	39	1		1	BSX	11	122981577	Missense_Mutation	SNP	G	C3N-01405_TP	3886279	122981577	12105045	287	24234											
OR10G8	0	.	GRCh38	chr11	124029763	124029763	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcatcctgctggtgatCagggtggattctcacctcca	6	12	9	14	0	3	1	3	1	1	0	7	2	6	2	4	3	1	1	4	3	0	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.141C>A	p.=	p.I47I	ENST00000431524	1/1	363	287	76	295	295	0	strelka-varscan-mutect	OR10G8,synonymous_variant,p.=,ENST00000431524,NM_001004464.1;	A	ENST00000431524	Transcript	synonymous_variant	174/1045	141/936	47/311	I	atC/atA		1		1	OR10G8	HGNC	HGNC:14845	protein_coding	YES	CCDS31704.1	ENSP00000389072	Q8NGN5	A0A126GVX3	UPI0000040A8F	NM_001004464.1			1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF146,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												A	2	1	74	124029763	124029763	C	A	1	0	0	0	0	0	0	0	1	10980	816	29	2		2	OR10G8	11	124029763	Silent	SNP	C	C3N-01405_TP	1048186	124029763	11056859	288	24235											
ESAM	0	.	GRCh38	chr11	124754274	124754274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggtacaagaggaccagcCcagccagcaaccccagtcca	12	3	11	15	0	0	1	0	0	0	1	1	2	1	2	6	3	5	2	6	3	3	1	rs764306357		C3N-01405_TP	C3N-01405_NB	C	C																c.797G>T	p.Gly266Val	p.G266V	ENST00000278927	6/7	194	171	23	149	149	0	strelka-varscan-mutect	ESAM,missense_variant,p.Gly266Val,ENST00000278927,NM_138961.2;ESAM,missense_variant,p.Gly139Val,ENST00000435477,;ESAM,missense_variant,p.Gly87Val,ENST00000444566,;VSIG2,upstream_gene_variant,,ENST00000403470,;VSIG2,upstream_gene_variant,,ENST00000326621,NM_014312.3;RP11-677M14.3,upstream_gene_variant,,ENST00000504932,;ESAM,3_prime_UTR_variant,,ENST00000417453,;ESAM,non_coding_transcript_exon_variant,,ENST00000464067,;ESAM,non_coding_transcript_exon_variant,,ENST00000485116,;	A	ENST00000278927	Transcript	missense_variant	927/1826	797/1173	266/390	G/V	gGg/gTg	rs764306357	1		-1	ESAM	HGNC	HGNC:17474	protein_coding	YES	CCDS8453.1	ENSP00000278927	Q96AP7		UPI000003721A	NM_138961.2	tolerated(0.65)		6/7		hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF126,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs764306357	.												A	3	1	74	124754274	124754274	C	A	1	0	0	0	0	1	0	0	0	5109	623	22	2		2	ESAM	11	124754274	Missense_Mutation	SNP	C	C3N-01405_TP	724511	124754274	10332348	289	24236											
ROBO4	0	.	GRCh38	chr11	124895191	124895191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcctgaggtggggcactggGcactggaggggtggaagaga	8	7	20	6	0	0	2	0	1	0	1	1	5	1	4	1	8	0	2	1	8	1	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1039C>T	p.Pro347Ser	p.P347S	ENST00000306534	7/18	139	125	14	137	137	0	strelka-mutect	ROBO4,missense_variant,p.Pro347Ser,ENST00000306534,NM_019055.5;ROBO4,missense_variant,p.Pro202Ser,ENST00000533054,NM_001301088.1;RP11-664I21.6,downstream_gene_variant,,ENST00000524433,;ROBO4,downstream_gene_variant,,ENST00000526899,;ROBO4,downstream_gene_variant,,ENST00000527279,;ROBO4,downstream_gene_variant,,ENST00000529941,;ROBO4,upstream_gene_variant,,ENST00000534407,;ROBO4,upstream_gene_variant,,ENST00000532216,;ROBO4,upstream_gene_variant,,ENST00000525182,;ROBO4,downstream_gene_variant,,ENST00000533337,;ROBO4,downstream_gene_variant,,ENST00000532300,;	A	ENST00000306534	Transcript	missense_variant,splice_region_variant	1525/4710	1039/3024	347/1007	P/S	Ccc/Tcc		1		-1	ROBO4	HGNC	HGNC:17985	protein_coding	YES	CCDS8455.1	ENSP00000304945	Q8WZ75		UPI000004A023	NM_019055.5	deleterious(0)		7/18		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	124895191	124895191	G	A	1	0	0	0	0	1	0	0	0	13694	1217	42	3		3	ROBO4	11	124895191	Missense_Mutation	SNP	G	C3N-01405_TP	140917	124895191	10191431	290	24237											
EI24	0	.	GRCh38	chr11	125579048	125579048	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcttcaaccttttgctgCaggctcttttcctcattcag	5	17	6	13	0	5	0	3	0	2	0	6	0	6	0	2	1	4	4	2	1	1	6	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.541C>T	p.Gln181Ter	p.Q181*	ENST00000278903	7/11	210	154	56	175	175	0	strelka-varscan-mutect	EI24,stop_gained,p.Gln181Ter,ENST00000278903,NM_004879.4;EI24,stop_gained,p.Gln8Ter,ENST00000618552,;EI24,stop_gained,p.Gln181Ter,ENST00000620753,;EI24,stop_gained,p.Gln181Ter,ENST00000527235,;EI24,stop_gained,p.Gln167Ter,ENST00000534546,NM_001290135.1;EI24,stop_gained,p.Gln8Ter,ENST00000615917,;EI24,stop_gained,p.Gln181Ter,ENST00000527842,;EI24,downstream_gene_variant,,ENST00000524723,;EI24,downstream_gene_variant,,ENST00000527131,;EI24,downstream_gene_variant,,ENST00000527520,;RNU6-1156P,downstream_gene_variant,,ENST00000410365,;STT3A-AS1,intron_variant,,ENST00000530526,;EI24,3_prime_UTR_variant,,ENST00000531636,;EI24,downstream_gene_variant,,ENST00000529765,;EI24,upstream_gene_variant,,ENST00000530540,;	T	ENST00000278903	Transcript	stop_gained	969/2455	541/1023	181/340	Q/*	Cag/Tag		1		1	EI24	HGNC	HGNC:13276	protein_coding	YES	CCDS73410.1	ENSP00000278903	O14681	A0A024R3I8	UPI000006CFDB	NM_004879.4			7/11		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR21389:SF0,hmmpanther:PTHR21389,Pfam_domain:PF07264																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	74	125579048	125579048	C	T	1	0	0	0	0	0	1	0	0	4821	711	25	3		3	EI24	11	125579048	Nonsense_Mutation	SNP	C	C3N-01405_TP	683857	125579048	9507574	291	24238											
GLB1L2	0	.	GRCh38	chr11	134370316	134370316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctctccctcccccacctGaccttcttcccaagatgccg	5	10	4	22	1	2	2	0	1	2	1	6	2	5	2	8	0	1	0	8	0	1	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1132G>T	p.Asp378Tyr	p.D378Y	ENST00000535456	12/19	279	246	33	146	145	1	strelka-varscan-mutect	GLB1L2,missense_variant,p.Asp378Tyr,ENST00000535456,NM_138342.3;GLB1L2,missense_variant,p.Asp378Tyr,ENST00000339772,;GLB1L2,non_coding_transcript_exon_variant,,ENST00000529077,;GLB1L2,downstream_gene_variant,,ENST00000533324,;	T	ENST00000535456	Transcript	missense_variant	1320/3365	1132/1911	378/636	D/Y	Gac/Tac		1		1	GLB1L2	HGNC	HGNC:25129	protein_coding	YES	CCDS31724.1	ENSP00000444628	Q8IW92	A0A024R3N9	UPI0000074534	NM_138342.3	deleterious(0.02)		12/19		Low_complexity_(Seg):seg,hmmpanther:PTHR23421:SF53,hmmpanther:PTHR23421,PIRSF_domain:PIRSF006336																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	134370316	134370316	G	T	1	0	0	0	0	1	0	0	0	6307	1290	45	2		2	GLB1L2	11	134370316	Missense_Mutation	SNP	G	C3N-01405_TP	8791268	134370316	716306	292	24239											
WNK1	0	.	GRCh38	chr12	890462	890462	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttttacagcctgtgtccAtggcggctccaacagcaatc	8	11	10	12	1	0	0	0	0	0	0	3	0	2	0	3	2	4	3	3	2	3	2	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.6214A>T	p.Met2072Leu	p.M2072L	ENST00000340908	22/28	335	285	50	391	391	0	strelka-varscan-mutect	WNK1,missense_variant,p.Met2233Leu,ENST00000530271,;WNK1,missense_variant,p.Met2080Leu,ENST00000537687,NM_001184985.1;WNK1,missense_variant,p.Met2072Leu,ENST00000340908,NM_213655.4;WNK1,missense_variant,p.Met1820Leu,ENST00000315939,NM_018979.3;WNK1,missense_variant,p.Met1573Leu,ENST00000535572,NM_014823.2;	T	ENST00000340908	Transcript	missense_variant	6857/11208	6214/7905	2072/2634	M/L	Atg/Ttg		1		1	WNK1	HGNC	HGNC:14540	protein_coding	YES	CCDS73419.1	ENSP00000341292	Q9H4A3		UPI0001DD21C4	NM_213655.4	tolerated_low_confidence(0.14)		22/28		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF46																	MODERATE	1	SNV	5			1										PASS		rs1007706533	.												T	3	4	74	890462	890462	A	T	1	0	0	0	0	1	0	0	0	17933	217	8	4		4	WNK1	12	890462	Missense_Mutation	SNP	A	C3N-01405_TP		890462	132384847	293	24240											
NTF3	0	.	GRCh38	chr12	5494884	5494884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaacatcccaaacctacGtccgagcactgacttcagag	14	6	7	14	2	1	2	1	1	0	1	3	3	3	2	3	0	4	2	3	0	4	2	rs777521890		C3N-01405_TP	C3N-01405_NB	G	G																c.709G>A	p.Val237Ile	p.V237I	ENST00000423158	2/2	180	154	26	156	156	0	strelka-varscan-mutect	NTF3,missense_variant,p.Val237Ile,ENST00000423158,NM_001102654.1;NTF3,missense_variant,p.Val224Ile,ENST00000331010,NM_002527.4;NTF3,intron_variant,,ENST00000535299,;NTF3,downstream_gene_variant,,ENST00000543548,;	A	ENST00000423158	Transcript	missense_variant	921/1336	709/813	237/270	V/I	Gtc/Atc	rs777521890	1		1	NTF3	HGNC	HGNC:8023	protein_coding	YES	CCDS44806.1	ENSP00000397297	P20783		UPI0000D4F126	NM_001102654.1	deleterious(0)		2/2		Gene3D:2.10.90.10,PD002052,Pfam_domain:PF00243,PIRSF_domain:PIRSF001789,Prints_domain:PR00268,PROSITE_profiles:PS50270,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF4,SMART_domains:SM00140,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		rs777521890	.												A	3	1	74	5494884	5494884	G	A	1	0	0	0	0	1	0	0	0	10760	1145	40	1		1	NTF3	12	5494884	Missense_Mutation	SNP	G	C3N-01405_TP	4604422	5494884	127780425	294	24241											
GDF3	0	.	GRCh38	chr12	7689977	7689977	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaaatgggagacagcttGgtggggatacacacagcctg	12	7	15	7	0	0	1	0	0	0	1	0	4	0	3	1	5	3	1	1	5	2	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.996C>G	p.=	p.T332T	ENST00000329913	2/2	270	212	58	222	222	0	strelka-varscan-mutect	GDF3,synonymous_variant,p.=,ENST00000329913,NM_020634.1;	C	ENST00000329913	Transcript	synonymous_variant	1044/1239	996/1095	332/364	T	acC/acG		1		-1	GDF3	HGNC	HGNC:4218	protein_coding	YES	CCDS8581.1	ENSP00000331745	Q9NR23		UPI0000049E0E	NM_020634.1			2/2		PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF38,Gene3D:2.10.90.10,Pfam_domain:PF00019,SMART_domains:SM00204,Superfamily_domains:SSF57501																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	74	7689977	7689977	G	C	1	0	0	0	0	0	0	0	1	6187	1335	47	4		4	GDF3	12	7689977	Silent	SNP	G	C3N-01405_TP	2195093	7689977	125585332	295	24242											
KLRB1	0	.	GRCh38	chr12	9598542	9598542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcaggctggattctttgGtggaacaatcagctagactg	10	10	13	8	0	2	1	1	0	1	1	2	3	2	3	0	4	3	4	0	4	3	3	rs768631912		C3N-01405_TP	C3N-01405_NB	G	G																c.371C>A	p.Thr124Asn	p.T124N	ENST00000229402	4/6	121	110	11	95	95	0	strelka-varscan-mutect	KLRB1,missense_variant,p.Thr124Asn,ENST00000229402,NM_002258.2;	T	ENST00000229402	Transcript	missense_variant	418/1448	371/678	124/225	T/N	aCc/aAc	rs768631912	1		-1	KLRB1	HGNC	HGNC:6373	protein_coding	YES	CCDS8601.1	ENSP00000229402	Q12918		UPI000006E273	NM_002258.2	tolerated(0.14)		4/6		PROSITE_profiles:PS50041,hmmpanther:PTHR22800:SF181,hmmpanther:PTHR22800,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		rs768631912	.												T	3	4	74	9598542	9598542	G	T	1	0	0	0	0	1	0	0	0	8283	1261	44	2		2	KLRB1	12	9598542	Missense_Mutation	SNP	G	C3N-01405_TP	1908565	9598542	123676767	296	24243											
TAS2R9	0	.	GRCh38	chr12	10809623	10809623	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaaaaggtgataccacatAtcatcattctttggaacact	14	13	6	8	0	3	2	2	2	1	0	3	3	3	3	1	2	2	0	1	2	5	5	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.453T>A	p.Asp151Glu	p.D151E	ENST00000240691	1/1	173	157	16	187	187	0	strelka-varscan-mutect	TAS2R9,missense_variant,p.Asp151Glu,ENST00000240691,NM_023917.2;TAS2R8,upstream_gene_variant,,ENST00000240615,NM_023918.1;	T	ENST00000240691	Transcript	missense_variant	546/1032	453/939	151/312	D/E	gaT/gaA		1		-1	TAS2R9	HGNC	HGNC:14917	protein_coding	YES	CCDS8633.1	ENSP00000240691	Q9NYW1		UPI0000038B11	NM_023917.2	tolerated(0.18)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF29,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	74	10809623	10809623	A	T	1	0	0	0	0	1	0	0	0	15987	446	16	4		4	TAS2R9	12	10809623	Missense_Mutation	SNP	A	C3N-01405_TP	1211081	10809623	122465686	297	24244											
CAPZA3	0	.	GRCh38	chr12	18738409	18738409	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaaacttatgcaccaccaAggtgagtgtgcaggccacca	14	6	10	11	0	0	1	0	1	0	0	0	2	0	1	4	2	3	2	4	2	4	1	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.141A>T	p.Gln47His	p.Q47H	ENST00000317658	1/1	219	194	25	194	194	0	strelka-varscan-mutect	CAPZA3,missense_variant,p.Gln47His,ENST00000317658,NM_033328.2;PLCZ1,upstream_gene_variant,,ENST00000266505,NM_033123.3;PLCZ1,upstream_gene_variant,,ENST00000539875,;PLCZ1,upstream_gene_variant,,ENST00000543242,;PLCZ1,upstream_gene_variant,,ENST00000541966,;PLCZ1,upstream_gene_variant,,ENST00000539072,;RP11-361I14.2,downstream_gene_variant,,ENST00000536931,;PLCZ1,upstream_gene_variant,,ENST00000545129,;PLCZ1,upstream_gene_variant,,ENST00000541109,;PLCZ1,upstream_gene_variant,,ENST00000318197,;PLCZ1,upstream_gene_variant,,ENST00000539207,;PLCZ1,upstream_gene_variant,,ENST00000544849,;PLCZ1,upstream_gene_variant,,ENST00000535429,;	T	ENST00000317658	Transcript	missense_variant	309/1087	141/900	47/299	Q/H	caA/caT		1		1	CAPZA3	HGNC	HGNC:24205	protein_coding	YES	CCDS8681.1	ENSP00000326238	Q96KX2	A0A140VKF6	UPI00001270FE	NM_033328.2	deleterious(0.02)		1/1		hmmpanther:PTHR10653,hmmpanther:PTHR10653:SF6,Pfam_domain:PF01267,Superfamily_domains:SSF90096																	MODERATE		SNV				1										PASS		.	.												T	3	4	74	18738409	18738409	A	T	1	0	0	0	0	1	0	0	0	2337	69	3	4		4	CAPZA3	12	18738409	Missense_Mutation	SNP	A	C3N-01405_TP	7928786	18738409	114536900	298	24245											
SLCO1C1	0	.	GRCh38	chr12	20722047	20722047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaataatggaaatggcaaGaggtaagtcaaattcttgat	19	10	9	3	0	2	2	1	1	1	1	2	3	2	3	0	3	0	2	0	3	7	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1019G>C	p.Arg340Thr	p.R340T	ENST00000545604	9/16	78	73	5	78	78	0	strelka-varscan-mutect	SLCO1C1,missense_variant,p.Arg340Thr,ENST00000266509,NM_017435.4;SLCO1C1,missense_variant,p.Arg222Thr,ENST00000545102,NM_001145944.1;SLCO1C1,missense_variant,p.Arg340Thr,ENST00000545604,NM_001145946.1;SLCO1C1,missense_variant,p.Arg291Thr,ENST00000540354,NM_001145945.1;SLCO1C1,splice_region_variant,,ENST00000539415,;	C	ENST00000545604	Transcript	missense_variant,splice_region_variant	1249/2557	1019/2193	340/730	R/T	aGa/aCa		1		1	SLCO1C1	HGNC	HGNC:13819	protein_coding	YES	CCDS53757.1	ENSP00000444149	Q9NYB5		UPI00004C3E1B	NM_001145946.1	tolerated(0.16)		9/16		hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF99,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Superfamily_domains:SSF103473																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	74	20722047	20722047	G	C	1	0	0	0	0	1	0	0	0	15012	956	33	4		4	SLCO1C1	12	20722047	Missense_Mutation	SNP	G	C3N-01405_TP	1983638	20722047	112553262	299	24246											
SLCO1A2	0	.	GRCh38	chr12	21300390	21300390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgacctcttctttttGtttgtcttcattttcatttt	3	26	3	9	0	6	1	2	1	4	0	6	1	6	1	1	0	0	1	1	0	0	11	rs373482983		C3N-01405_TP	C3N-01405_NB	G	G																c.868C>A	p.Gln290Lys	p.Q290K	ENST00000307378	9/16	104	97	7	102	102	0	varscan-mutect	SLCO1A2,missense_variant,p.Gln290Lys,ENST00000307378,NM_021094.3,NM_134431.3;SLCO1A2,missense_variant,p.Gln158Lys,ENST00000458504,;SLCO1A2,downstream_gene_variant,,ENST00000413682,;SLCO1A2,3_prime_UTR_variant,,ENST00000544290,;SLCO1A2,3_prime_UTR_variant,,ENST00000544020,;SLCO1A2,non_coding_transcript_exon_variant,,ENST00000480394,;SLCO1A2,non_coding_transcript_exon_variant,,ENST00000463718,;	T	ENST00000307378	Transcript	missense_variant	1589/7682	868/2013	290/670	Q/K	Caa/Aaa	rs373482983	1		-1	SLCO1A2	HGNC	HGNC:10956	protein_coding	YES	CCDS8686.1	ENSP00000305974	P46721	A0A024RAT5	UPI0000037575	NM_021094.3,NM_134431.3	tolerated(1)		9/16		Gene3D:1.20.1250.20,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF16,Low_complexity_(Seg):seg,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805																	MODERATE	1	SNV	1			1										PASS		rs373482983	.												T	3	4	74	21300390	21300390	G	T	1	0	0	0	0	1	0	0	0	15008	1386	48	2		2	SLCO1A2	12	21300390	Missense_Mutation	SNP	G	C3N-01405_TP	578343	21300390	111974919	300	24247											
ADAMTS20	0	.	GRCh38	chr12	43468603	43468603	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagaaggtacttacgtgTgcccaagctcatgggctata	11	10	11	9	1	1	2	1	1	0	1	1	2	1	2	1	2	4	3	1	2	6	4	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.1220A>T	p.His407Leu	p.H407L	ENST00000389420	8/39	246	174	72	219	219	0	strelka-varscan-mutect	ADAMTS20,missense_variant,p.His407Leu,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.His407Leu,ENST00000395541,;ADAMTS20,missense_variant,p.His407Leu,ENST00000553158,;	A	ENST00000389420	Transcript	missense_variant	1220/6076	1220/5733	407/1910	H/L	cAc/cTc		1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3	deleterious(0)		8/39		PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	43468603	43468603	T	A	1	0	0	0	0	1	0	0	0	310	1710	59	4		4	ADAMTS20	12	43468603	Missense_Mutation	SNP	T	C3N-01405_TP	22168213	43468603	89806706	301	24248											
TROAP	0	.	GRCh38	chr12	49329977	49329977	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acagaacccccagcctccagGaggtgaagattcaagtgagt	13	6	11	11	0	1	4	1	2	0	2	2	5	2	5	4	2	2	0	4	2	3	1	rs780443691		C3N-01405_TP	C3N-01405_NB	G	G																c.1285G>C	p.Glu429Gln	p.E429Q	ENST00000257909	12/15	154	107	47	101	101	0	strelka-varscan-mutect	TROAP,missense_variant,p.Glu429Gln,ENST00000551245,;TROAP,missense_variant,p.Glu429Gln,ENST00000257909,NM_005480.3;TROAP,missense_variant,p.Glu137Gln,ENST00000547923,;C1QL4,downstream_gene_variant,,ENST00000334221,NM_001008223.1;TROAP,downstream_gene_variant,,ENST00000547807,;TROAP,downstream_gene_variant,,ENST00000550346,;TROAP,downstream_gene_variant,,ENST00000551567,;TROAP,downstream_gene_variant,,ENST00000551192,;TROAP,downstream_gene_variant,,ENST00000546735,;TROAP,downstream_gene_variant,,ENST00000546776,;TROAP,downstream_gene_variant,,ENST00000549891,;TROAP,downstream_gene_variant,,ENST00000548817,;	C	ENST00000257909	Transcript	missense_variant	1361/2527	1285/2337	429/778	E/Q	Gag/Cag	rs780443691,COSM324004	1		1	TROAP	HGNC	HGNC:12327	protein_coding	YES	CCDS8784.1	ENSP00000257909	Q12815		UPI000007108A	NM_005480.3	tolerated(0.05)		12/15		hmmpanther:PTHR15289,hmmpanther:PTHR15289:SF3											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs780443691	.												C	3	2	74	49329977	49329977	G	C	1	0	0	0	0	1	0	0	0	17080	1175	41	4		4	TROAP	12	49329977	Missense_Mutation	SNP	G	C3N-01405_TP	5861374	49329977	83945332	302	24249											
FAM186A	0	.	GRCh38	chr12	50353204	50353204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccaattcctgagcctgctGaggggtgagagagaccctca	9	7	12	13	0	1	4	1	3	0	2	2	6	2	4	5	2	2	1	5	2	1	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.3628C>G	p.Gln1210Glu	p.Q1210E	ENST00000327337	4/8	309	291	18	230	230	0	varscan-mutect	FAM186A,missense_variant,p.Gln1210Glu,ENST00000543111,;FAM186A,missense_variant,p.Gln1210Glu,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,;	C	ENST00000327337	Transcript	missense_variant	3628/7127	3628/7056	1210/2351	Q/E	Cag/Gag		1		-1	FAM186A	HGNC	HGNC:26980	protein_coding	YES	CCDS44878.1	ENSP00000329995	A6NE01		UPI00001D7978	NM_001145475.1	tolerated(0.34)		4/8		hmmpanther:PTHR33590,hmmpanther:PTHR33590:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	74	50353204	50353204	G	C	1	0	0	0	0	1	0	0	0	5361	1299	45	4		4	FAM186A	12	50353204	Missense_Mutation	SNP	G	C3N-01405_TP	1023227	50353204	82922105	303	24250											
HOXC9	0	.	GRCh38	chr12	54000281	54000281	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtccaggtttccggccacCggggctcatcccgccgccgc	3	6	13	19	6	1	0	1	0	0	0	4	0	4	0	7	4	0	2	7	4	0	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.93C>A	p.=	p.T31T	ENST00000303450	1/2	465	325	140	323	323	0	strelka-varscan-mutect	HOXC9,synonymous_variant,p.=,ENST00000303450,NM_006897.1;HOXC9,synonymous_variant,p.=,ENST00000508190,;RP11-834C11.12,intron_variant,,ENST00000513209,;HOXC6,intron_variant,,ENST00000504315,;HOXC6,intron_variant,,ENST00000509328,;HOXC-AS1,upstream_gene_variant,,ENST00000505700,;HOXC-AS2,upstream_gene_variant,,ENST00000513533,;HOXC-AS1,upstream_gene_variant,,ENST00000512427,;HOXC9,intron_variant,,ENST00000504557,;HOXC-AS2,upstream_gene_variant,,ENST00000604081,;	A	ENST00000303450	Transcript	synonymous_variant	163/1516	93/783	31/260	T	acC/acA		1		1	HOXC9	HGNC	HGNC:5130	protein_coding	YES	CCDS8869.1	ENSP00000302836	P31274	A0A024RAZ6	UPI000012CF79	NM_006897.1			1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF145,Pfam_domain:PF04617,PIRSF_domain:PIRSF037109																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	54000281	54000281	C	A	1	0	0	0	0	0	0	0	1	7211	639	23	1		1	HOXC9	12	54000281	Silent	SNP	C	C3N-01405_TP	3647077	54000281	79275028	304	24251											
HOXC9	0	.	GRCh38	chr12	54002470	54002470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attcacgcccgctccacgagGaagaagcgctgcccctacac	10	5	9	17	4	1	1	1	0	0	1	2	3	2	2	4	1	3	2	4	1	3	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.579G>T	p.Arg193Ser	p.R193S	ENST00000303450	2/2	168	140	28	133	133	0	strelka-varscan-mutect	HOXC9,missense_variant,p.Arg193Ser,ENST00000303450,NM_006897.1;HOXC9,missense_variant,p.Arg193Ser,ENST00000508190,;RP11-834C11.12,intron_variant,,ENST00000513209,;HOXC6,intron_variant,,ENST00000504315,;HOXC6,intron_variant,,ENST00000509328,;HOXC-AS1,upstream_gene_variant,,ENST00000505700,;HOXC-AS1,upstream_gene_variant,,ENST00000512427,;HOXC9,non_coding_transcript_exon_variant,,ENST00000504557,;	T	ENST00000303450	Transcript	missense_variant	649/1516	579/783	193/260	R/S	agG/agT		1		1	HOXC9	HGNC	HGNC:5130	protein_coding	YES	CCDS8869.1	ENSP00000302836	P31274	A0A024RAZ6	UPI000012CF79	NM_006897.1	deleterious(0)		2/2		PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF145,Gene3D:1.10.10.60,Pfam_domain:PF00046,PIRSF_domain:PIRSF037109,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	54002470	54002470	G	T	1	0	0	0	0	1	0	0	0	7211	1165	41	2		2	HOXC9	12	54002470	Missense_Mutation	SNP	G	C3N-01405_TP	2189	54002470	79272839	305	24252											
TESPA1	0	.	GRCh38	chr12	54963003	54963003	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtggggtggtggtggccGgtctcgggggcatgtgtaca	3	11	21	6	2	1	0	0	0	1	0	2	0	1	0	1	8	1	3	1	8	1	2	rs753442863		C3N-01405_TP	C3N-01405_NB	G	G																c.895C>A	p.=	p.R299R	ENST00000449076	9/11	193	174	19	143	143	0	strelka-varscan-mutect	TESPA1,synonymous_variant,p.=,ENST00000524622,NM_001261844.1,NM_014796.2;TESPA1,synonymous_variant,p.=,ENST00000449076,NM_001136030.2;TESPA1,synonymous_variant,p.=,ENST00000532804,;TESPA1,synonymous_variant,p.=,ENST00000316577,NM_001098815.2;TESPA1,synonymous_variant,p.=,ENST00000531122,;TESPA1,intron_variant,,ENST00000532757,;TESPA1,downstream_gene_variant,,ENST00000524668,;TESPA1,downstream_gene_variant,,ENST00000526532,;TESPA1,upstream_gene_variant,,ENST00000528240,;TESPA1,downstream_gene_variant,,ENST00000533446,;TESPA1,downstream_gene_variant,,ENST00000524959,;TESPA1,3_prime_UTR_variant,,ENST00000524923,;TESPA1,downstream_gene_variant,,ENST00000525978,;	T	ENST00000449076	Transcript	synonymous_variant	1028/2010	895/1566	299/521	R	Cgg/Agg	rs753442863,COSM5130233,COSM5130234	1		-1	TESPA1	HGNC	HGNC:29109	protein_coding	YES	CCDS44913.1	ENSP00000400892	A2RU30	A0A024RB73	UPI00001FC438	NM_001136030.2			9/11		Low_complexity_(Seg):seg,hmmpanther:PTHR17469											0,1,1						LOW	1	SNV	2		0,1,1	1										PASS		rs753442863	.												T	2	4	74	54963003	54963003	G	T	1	0	0	0	0	0	0	0	1	16189	1115	39	1		1	TESPA1	12	54963003	Silent	SNP	G	C3N-01405_TP	960533	54963003	78312306	306	24253											
DPY19L2	0	.	GRCh38	chr12	63580693	63580693	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtatttgatccactgtaaAagttcttcctgaggcaaatt	11	15	7	8	0	1	2	0	2	1	0	3	2	3	2	2	1	0	4	2	1	4	6	rs755975116		C3N-01405_TP	C3N-01405_NB	A	A																c.1869T>G	p.=	p.L623L	ENST00000324472	19/22	93	81	12	80	80	0	varscan-mutect	DPY19L2,synonymous_variant,p.=,ENST00000324472,NM_173812.4;DPY19L2,non_coding_transcript_exon_variant,,ENST00000413230,;DPY19L2,intron_variant,,ENST00000439061,;	C	ENST00000324472	Transcript	synonymous_variant	2053/4060	1869/2277	623/758	L	ctT/ctG	rs755975116	1		-1	DPY19L2	HGNC	HGNC:19414	protein_coding	YES	CCDS31851.1	ENSP00000315988	Q6NUT2		UPI000006EC0C	NM_173812.4			19/22		Pfam_domain:PF10034,hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF6																	LOW	1	SNV	1			1										PASS		rs755975116	.												C	2	2	74	63580693	63580693	A	C	1	0	0	0	0	0	0	0	1	4556	1	1	5		5	DPY19L2	12	63580693	Silent	SNP	A	C3N-01405_TP	8617690	63580693	69694616	307	24254											
HELB	0	.	GRCh38	chr12	66309955	66309955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttttgaaggatattggtGtggtgacatatgagaagtcc	11	14	13	3	0	0	3	0	3	0	1	1	5	1	4	1	3	0	1	1	3	4	5	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1027G>T	p.Val343Leu	p.V343L	ENST00000247815	4/13	226	141	85	168	168	0	strelka-varscan-mutect	HELB,missense_variant,p.Val343Leu,ENST00000247815,NM_033647.3;HELB,missense_variant,p.Val343Leu,ENST00000545134,;HELB,missense_variant,p.Val343Leu,ENST00000542394,;HELB,missense_variant,p.Val343Leu,ENST00000440906,;	T	ENST00000247815	Transcript	missense_variant	1086/12866	1027/3264	343/1087	V/L	Gtg/Ttg		1		1	HELB	HGNC	HGNC:17196	protein_coding	YES	CCDS8976.1	ENSP00000247815	Q8NG08		UPI000013CC2D	NM_033647.3	deleterious(0.01)		4/13		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF135,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1450391472	.												T	3	4	74	66309955	66309955	G	T	1	0	0	0	0	1	0	0	0	6927	1377	48	2		2	HELB	12	66309955	Missense_Mutation	SNP	G	C3N-01405_TP	2729262	66309955	66965354	308	24255											
NAV3	0	.	GRCh38	chr12	78177625	78177625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtatgtacatacaggtcacCccttgtctggccaccaaaga	11	10	8	12	0	2	1	1	0	1	1	2	1	2	1	4	2	2	2	4	2	4	4	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.5303C>T	p.Pro1768Leu	p.P1768L	ENST00000397909	28/40	194	136	58	179	179	0	strelka-varscan-mutect	NAV3,missense_variant,p.Pro1768Leu,ENST00000397909,NM_001024383.1;NAV3,intron_variant,,ENST00000536525,NM_014903.5;NAV3,intron_variant,,ENST00000552895,;NAV3,intron_variant,,ENST00000550788,;NAV3,upstream_gene_variant,,ENST00000552300,;NAV3,upstream_gene_variant,,ENST00000548948,;	T	ENST00000397909	Transcript	missense_variant	5476/9821	5303/7158	1768/2385	P/L	cCc/cTc		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	tolerated(0.3)		28/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	MODERATE	1	SNV	1			1										PASS		rs1377149299	.												T	3	4	74	78177625	78177625	C	T	1	0	0	0	0	1	0	0	0	10194	637	22	3		3	NAV3	12	78177625	Missense_Mutation	SNP	C	C3N-01405_TP	11867670	78177625	55097684	309	24256											
PTPRQ	0	.	GRCh38	chr12	80506155	80506155	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttatctcaagagaagtaatGgaaatgaggaaagaactata	19	10	9	3	0	1	3	1	1	1	2	2	6	1	5	0	2	1	1	0	2	9	5	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.2404G>T	p.Gly802Ter	p.G802*	ENST00000614701	15/45	112	67	45	129	128	1	strelka-varscan-mutect	PTPRQ,stop_gained,p.Gly802Ter,ENST00000614701,NM_001145026.1;PTPRQ,stop_gained,p.Gly844Ter,ENST00000616559,;	T	ENST00000614701	Transcript	stop_gained	2582/8289	2404/6900	802/2299	G/*	Gga/Tga		1		1	PTPRQ	HGNC	HGNC:9679	protein_coding	YES	CCDS73501.1	ENSP00000482885		A0A087WZU1	UPI000192953C	NM_001145026.1			15/45		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF414,SMART_domains:SM00060,Superfamily_domains:SSF49265																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	74	80506155	80506155	G	T	1	0	0	0	0	0	1	0	0	12964	1349	47	2		2	PTPRQ	12	80506155	Nonsense_Mutation	SNP	G	C3N-01405_TP	2328530	80506155	52769154	310	24257											
EPYC	0	.	GRCh38	chr12	90971874	90971874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aataaatgtcaaagtggttgGcaattctgggagctgcctta	12	12	11	6	0	2	0	1	0	1	0	2	1	2	1	1	3	2	3	1	3	6	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.628C>A	p.Pro210Thr	p.P210T	ENST00000261172	5/7	239	153	86	214	214	0	strelka-varscan-mutect	EPYC,missense_variant,p.Pro210Thr,ENST00000261172,NM_004950.4;EPYC,missense_variant,p.Pro210Thr,ENST00000551767,;EPYC,downstream_gene_variant,,ENST00000550203,;	T	ENST00000261172	Transcript	missense_variant	721/1539	628/969	210/322	P/T	Cca/Aca		1		-1	EPYC	HGNC	HGNC:3053	protein_coding	YES	CCDS31870.1	ENSP00000261172	Q99645	A0A024RBC3	UPI000013D136	NM_004950.4	deleterious(0)		5/7		PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF123,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	90971874	90971874	G	T	1	0	0	0	0	1	0	0	0	5049	1203	42	2		2	EPYC	12	90971874	Missense_Mutation	SNP	G	C3N-01405_TP	10465719	90971874	42303435	311	24258											
SOCS2	0	.	GRCh38	chr12	93574886	93574886	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaatcgaataccaagacGgaaaattcagattggactct	15	10	8	8	3	2	2	1	0	1	2	4	6	2	4	1	2	1	0	1	2	6	4			C3N-01405_TP	C3N-01405_NB	G	G																c.304G>T	p.Gly102Ter	p.G102*	ENST00000622746	3/3	315	217	98	231	231	0	strelka-varscan-mutect	SOCS2,stop_gained,p.Gly102Ter,ENST00000622746,NM_001270469.1,NM_001270470.1;SOCS2,stop_gained,p.Gly102Ter,ENST00000340600,NM_003877.4,NM_001270471.1;SOCS2,stop_gained,p.Gly102Ter,ENST00000549122,;SOCS2,stop_gained,p.Gly102Ter,ENST00000549206,NM_001270467.1;SOCS2,stop_gained,p.Gly102Ter,ENST00000551556,;SOCS2,stop_gained,p.Gly102Ter,ENST00000536696,NM_001270468.1;SOCS2,stop_gained,p.Gly102Ter,ENST00000549887,;SOCS2,stop_gained,p.Gly102Ter,ENST00000548091,;SOCS2,3_prime_UTR_variant,,ENST00000548537,;SOCS2,upstream_gene_variant,,ENST00000551883,;SOCS2,upstream_gene_variant,,ENST00000549510,;SOCS2,downstream_gene_variant,,ENST00000547229,;SOCS2-AS1,upstream_gene_variant,,ENST00000499137,;SOCS2-AS1,upstream_gene_variant,,ENST00000500986,;SOCS2-AS1,upstream_gene_variant,,ENST00000551626,;	T	ENST00000622746	Transcript	stop_gained	1023/2881	304/597	102/198	G/*	Gga/Tga	COSM4045433	1		1	SOCS2	HGNC	HGNC:19382	protein_coding	YES	CCDS9047.1	ENSP00000481249	O14508	A0A024RBD2	UPI0000135B63	NM_001270469.1,NM_001270470.1			3/3		Gene3D:3.30.505.10,Pfam_domain:PF00017,PROSITE_profiles:PS50001,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF75,SMART_domains:SM00252,Superfamily_domains:SSF55550											1						HIGH		SNV	3		1	1										PASS		rs1225826658	.												T	4	4	74	93574886	93574886	G	T	1	0	0	0	0	0	1	0	0	15235	1117	39	1		1	SOCS2	12	93574886	Nonsense_Mutation	SNP	G	C3N-01405_TP	2603012	93574886	39700423	312	24259											
UHRF1BP1L	0	.	GRCh38	chr12	100058976	100058976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctataatactccttcaagagCttcttccgcttcaatcggcc	9	13	5	14	2	3	1	2	0	1	1	6	1	5	1	3	1	2	2	3	1	5	7	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.2301G>T	p.Lys767Asn	p.K767N	ENST00000279907	14/21	362	270	92	273	273	0	strelka-varscan-mutect	UHRF1BP1L,missense_variant,p.Lys767Asn,ENST00000279907,NM_015054.1;UHRF1BP1L,missense_variant,p.Lys417Asn,ENST00000545232,;	A	ENST00000279907	Transcript	missense_variant	2514/5168	2301/4395	767/1464	K/N	aaG/aaT		1		-1	UHRF1BP1L	HGNC	HGNC:29102	protein_coding	YES	CCDS31882.1	ENSP00000279907	A0JNW5		UPI0000160563	NM_015054.1	deleterious(0.01)		14/21		hmmpanther:PTHR22774,hmmpanther:PTHR22774:SF17,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	100058976	100058976	C	A	1	0	0	0	0	1	0	0	0	17493	796	28	2		2	UHRF1BP1L	12	100058976	Missense_Mutation	SNP	C	C3N-01405_TP	6484090	100058976	33216333	313	24260											
PARPBP	0	.	GRCh38	chr12	102178665	102178665	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagccttattagttctttTggacgaagaagcagctaatg	13	12	10	6	1	1	1	0	0	1	1	1	4	1	2	1	1	3	3	1	1	6	6	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.1079T>C	p.Leu360Ser	p.L360S	ENST00000327680	8/11	127	117	10	116	116	0	strelka-varscan-mutect	PARPBP,missense_variant,p.Leu360Ser,ENST00000327680,NM_001319994.1,NM_017915.3;PARPBP,missense_variant,p.Leu437Ser,ENST00000541394,;PARPBP,missense_variant,p.Leu279Ser,ENST00000392911,;PARPBP,intron_variant,,ENST00000417507,;PARPBP,intron_variant,,ENST00000412715,;PARPBP,intron_variant,,ENST00000543784,;PARPBP,intron_variant,,ENST00000535811,;PARPBP,3_prime_UTR_variant,,ENST00000457614,;	C	ENST00000327680	Transcript	missense_variant	1124/3014	1079/1740	360/579	L/S	tTg/tCg		1		1	PARPBP	HGNC	HGNC:26074	protein_coding	YES	CCDS9090.2	ENSP00000332915	Q9NWS1		UPI000004A06B	NM_001319994.1,NM_017915.3	deleterious(0.01)		8/11		hmmpanther:PTHR32121																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	74	102178665	102178665	T	C	1	0	0	0	0	1	0	0	0	11547	1821	63	5		5	PARPBP	12	102178665	Missense_Mutation	SNP	T	C3N-01405_TP	2119689	102178665	31096644	314	24261											
PWP1	0	.	GRCh38	chr12	107688701	107688701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgcacccaggcacgcccaaGagagcccctggaggatggtg	10	3	14	14	2	0	1	0	0	0	1	0	4	0	3	4	4	1	2	4	4	1	0	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.218G>A	p.Arg73Lys	p.R73K	ENST00000412830	3/15	292	232	60	242	242	0	strelka-varscan-mutect	PWP1,missense_variant,p.Arg73Lys,ENST00000412830,NM_001317962.1,NM_007062.1;PWP1,missense_variant,p.Arg11Lys,ENST00000541166,;PWP1,missense_variant,p.Arg11Lys,ENST00000547995,;PWP1,missense_variant,p.Arg73Lys,ENST00000552760,;PWP1,upstream_gene_variant,,ENST00000547120,;	A	ENST00000412830	Transcript	missense_variant	386/2621	218/1506	73/501	R/K	aGa/aAa		1		1	PWP1	HGNC	HGNC:17015	protein_coding	YES	CCDS9114.1	ENSP00000387365	Q13610	A0A024RBH5	UPI0000132B9C	NM_001317962.1,NM_007062.1	tolerated(0.81)		3/15		hmmpanther:PTHR14091																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	107688701	107688701	G	A	1	0	0	0	0	1	0	0	0	12997	942	33	3		3	PWP1	12	107688701	Missense_Mutation	SNP	G	C3N-01405_TP	5510036	107688701	25586608	315	24262											
NOS1	0	.	GRCh38	chr12	117259077	117259077	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggtgctggtgaccacaagGaccagagtttcatgttccag	11	9	12	9	0	1	2	1	1	0	1	2	3	2	3	3	3	1	3	3	3	2	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.2421C>A	p.=	p.V807V	ENST00000618760	15/30	173	159	14	111	109	2	strelka-varscan	NOS1,synonymous_variant,p.=,ENST00000618760,NM_001204218.1;NOS1,synonymous_variant,p.=,ENST00000317775,NM_001204214.1,NM_000620.4,NM_001204213.1;NOS1,synonymous_variant,p.=,ENST00000338101,;NOS1,synonymous_variant,p.=,ENST00000344089,;	T	ENST00000618760	Transcript	synonymous_variant	3132/12283	2421/4407	807/1468	V	gtC/gtA		1		-1	NOS1	HGNC	HGNC:7872	protein_coding	YES	CCDS55890.1	ENSP00000477999	P29475		UPI00001FBC10	NM_001204218.1			15/30		Low_complexity_(Seg):seg,PROSITE_profiles:PS50902,hmmpanther:PTHR19384:SF63,hmmpanther:PTHR19384,Gene3D:3.40.50.360,Pfam_domain:PF00258,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF52218																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	74	117259077	117259077	G	T	1	0	0	0	0	0	0	0	1	10586	1161	41	2		2	NOS1	12	117259077	Silent	SNP	G	C3N-01405_TP	9570376	117259077	16016232	316	24263											
ACADS	0	.	GRCh38	chr12	120738532	120738532	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccagggcggtccccacaGcaaaccctggacatgggccg	9	4	13	15	2	0	1	0	1	0	0	1	2	1	2	5	4	2	1	5	4	1	0			C3N-01405_TP	C3N-01405_NB	G	G																c.796-1G>T		p.X266_splice	ENST00000242592		360	253	107	241	241	0	strelka-varscan-mutect	ACADS,splice_acceptor_variant,,ENST00000242592,NM_000017.3;ACADS,splice_acceptor_variant,,ENST00000411593,NM_001302554.1;RP11-173P15.7,downstream_gene_variant,,ENST00000542620,;ACADS,downstream_gene_variant,,ENST00000539690,;	T	ENST00000242592	Transcript	splice_acceptor_variant	-/1950	796/1239	266/412			COSM3968028	1		1	ACADS	HGNC	HGNC:90	protein_coding	YES	CCDS9207.1	ENSP00000242592	P16219	E5KSD5	UPI000004A863	NM_000017.3				6/9												1						HIGH	1	SNV	1		1	1										PASS		.	.												T	5	4	74	120738532	120738532	G	T	1	0	0	0	0	0	0	1	0	157	985	34	2		2	ACADS	12	120738532	Splice_Site	SNP	G	C3N-01405_TP	3479455	120738532	12536777	317	24264											
IL31	0	.	GRCh38	chr12	122174165	122174165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccagtgatacctgagtgaGaggccatggcgagagagagc	12	5	16	8	1	0	5	0	3	0	3	0	9	0	5	3	2	2	0	3	2	1	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.8C>T	p.Ser3Phe	p.S3F	ENST00000377035	1/3	295	274	21	203	203	0	strelka-varscan-mutect	IL31,missense_variant,p.Ser3Phe,ENST00000377035,NM_001014336.1;LRRC43,intron_variant,,ENST00000537729,;	A	ENST00000377035	Transcript	missense_variant	35/904	8/495	3/164	S/F	tCt/tTt		1		-1	IL31	HGNC	HGNC:19372	protein_coding	YES	CCDS31919.1	ENSP00000366234	Q6EBC2		UPI00003BF6FE	NM_001014336.1	deleterious(0.01)		1/3		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR38652:SF1,hmmpanther:PTHR38652																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	122174165	122174165	G	A	1	0	0	0	0	1	0	0	0	7589	942	33	3		3	IL31	12	122174165	Missense_Mutation	SNP	G	C3N-01405_TP	1435633	122174165	11101144	318	24265											
DNAH10	0	.	GRCh38	chr12	123864718	123864718	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggctccaagcacactgtgcCctgctctttgaggcaagtag	8	9	11	13	1	1	1	0	1	1	0	2	1	2	1	2	2	3	5	2	2	3	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.6678C>A	p.=	p.A2226A	ENST00000638045	39/78	183	123	60	126	126	0	strelka-varscan-mutect	DNAH10,synonymous_variant,p.=,ENST00000409039,;DNAH10,synonymous_variant,p.=,ENST00000638045,NM_207437.3;DNAH10,3_prime_UTR_variant,,ENST00000497783,;	A	ENST00000638045	Transcript	synonymous_variant	6703/13678	6678/13416	2226/4471	A	gcC/gcA		1		1	DNAH10	HGNC	HGNC:2941	protein_coding	YES	CCDS9255.2	ENSP00000489675			UPI00014F7B89	NM_207437.3			39/78		hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF07728,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV				1										PASS		.	.												A	2	1	74	123864718	123864718	C	A	1	0	0	0	0	0	0	0	1	4411	610	22	2		2	DNAH10	12	123864718	Silent	SNP	C	C3N-01405_TP	1690553	123864718	9410591	319	24266											
ULK1	0	.	GRCh38	chr12	131916573	131916573	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcggccaggcgaggaccCcaagggcccctttggccggt	5	5	15	16	3	0	0	0	0	0	0	0	2	0	1	7	6	1	0	7	6	1	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.2054C>G	p.Pro685Arg	p.P685R	ENST00000321867	20/28	92	83	9	67	67	0	strelka-varscan-mutect	ULK1,missense_variant,p.Pro685Arg,ENST00000321867,NM_003565.2;ULK1,non_coding_transcript_exon_variant,,ENST00000541761,;ULK1,upstream_gene_variant,,ENST00000540568,;ULK1,upstream_gene_variant,,ENST00000544718,;ULK1,upstream_gene_variant,,ENST00000540647,;	G	ENST00000321867	Transcript	missense_variant	2405/5310	2054/3153	685/1050	P/R	cCc/cGc		1		1	ULK1	HGNC	HGNC:12558	protein_coding	YES	CCDS9274.1	ENSP00000324560	O75385		UPI00001FB0D9	NM_003565.2	tolerated(0.54)		20/28		PIRSF_domain:PIRSF000580,hmmpanther:PTHR24348,hmmpanther:PTHR24348:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	131916573	131916573	C	G	1	0	0	0	0	1	0	0	0	17499	623	22	4		4	ULK1	12	131916573	Missense_Mutation	SNP	C	C3N-01405_TP	8051855	131916573	1358736	320	24267											
SACS	0	.	GRCh38	chr13	23333597	23333597	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagtacgtagcatgttcCaaattttccaatgcttacat	12	15	6	8	1	0	0	0	0	0	0	2	0	2	0	2	0	4	6	2	0	6	7			C3N-01405_TP	C3N-01405_NB	C	C																c.10279G>C	p.Gly3427Arg	p.G3427R	ENST00000382292	9/9	337	263	74	274	274	0	strelka-varscan-mutect	SACS,missense_variant,p.Gly3427Arg,ENST00000382292,NM_014363.5;SACS,missense_variant,p.Gly2677Arg,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	G	ENST00000382292	Transcript	missense_variant	10553/15324	10279/13740	3427/4579	G/R	Gga/Cga	COSM1365877,COSM1365878	1		-1	SACS	HGNC	HGNC:10519	protein_coding	YES	CCDS9300.2	ENSP00000371729	Q9NZJ4		UPI000047039D	NM_014363.5	tolerated(0.33)		9/9		hmmpanther:PTHR15600,hmmpanther:PTHR15600:SF28											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												G	3	3	74	23333597	23333597	C	G	1	0	0	0	0	1	0	0	0	14063	603	21	4		4	SACS	13	23333597	Missense_Mutation	SNP	C	C3N-01405_TP		23333597	91030731	321	24268											
FLT1	0	.	GRCh38	chr13	28322942	28322942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggctccatgtgtagtgctGcatcctttgaagagaccgaa	10	11	11	9	1	0	2	0	1	0	1	2	4	2	2	3	1	2	4	3	1	4	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.2801C>T	p.Ala934Val	p.A934V	ENST00000282397	21/30	302	234	68	251	251	0	strelka-varscan-mutect	FLT1,missense_variant,p.Ala934Val,ENST00000282397,NM_002019.4;FLT1,missense_variant,p.Ala29Val,ENST00000615611,;FLT1,5_prime_UTR_variant,,ENST00000540678,;FLT1,upstream_gene_variant,,ENST00000543394,;	A	ENST00000282397	Transcript	missense_variant	3053/7092	2801/4017	934/1338	A/V	gCa/gTa		1		-1	FLT1	HGNC	HGNC:3763	protein_coding	YES	CCDS9330.1	ENSP00000282397	P17948	L7RSL3	UPI000013DCDD	NM_002019.4	tolerated(0.12)		21/30		Pfam_domain:PF07714,PROSITE_profiles:PS50011,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	28322942	28322942	G	A	1	0	0	0	0	1	0	0	0	5797	1333	46	3		3	FLT1	13	28322942	Missense_Mutation	SNP	G	C3N-01405_TP	4989345	28322942	86041386	322	24269											
BRCA2	0	.	GRCh38	chr13	32337625	32337625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcatataacccctcagatGttattttccaagcaggattt	12	14	6	9	0	2	1	2	0	0	1	3	2	3	2	3	1	2	2	3	1	4	6	rs80358574		C3N-01405_TP	C3N-01405_NB	G	G																c.3270G>T	p.Met1090Ile	p.M1090I	ENST00000380152	11/27	44	34	10	47	47	0	strelka-varscan-mutect	BRCA2,missense_variant,p.Met1090Ile,ENST00000380152,;BRCA2,missense_variant,p.Met1090Ile,ENST00000544455,NM_000059.3;BRCA2,non_coding_transcript_exon_variant,,ENST00000614259,;BRCA2,downstream_gene_variant,,ENST00000530893,;	T	ENST00000380152	Transcript	missense_variant	3503/11986	3270/10257	1090/3418	M/I	atG/atT	rs80358574	1		1	BRCA2	HGNC	HGNC:1101	protein_coding	YES	CCDS9344.1	ENSP00000369497	P51587		UPI00001FCBCC		tolerated(0.41)		11/27		hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,PIRSF_domain:PIRSF002397										uncertain_significance,not_provided							MODERATE	1	SNV	5		1	1										PASS		rs80358574	.												T	3	4	74	32337625	32337625	G	T	1	0	0	0	0	1	0	0	0	1669	1377	48	2		2	BRCA2	13	32337625	Missense_Mutation	SNP	G	C3N-01405_TP	4014683	32337625	82026703	323	24270											
FREM2	0	.	GRCh38	chr13	38690161	38690161	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccggccagtggatgatgaAgtgcccatactgagccatcc	9	8	12	12	1	0	3	0	3	0	0	2	4	2	4	5	2	3	0	5	2	2	1	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.2817A>C	p.Glu939Asp	p.E939D	ENST00000280481	1/24	289	207	82	237	237	0	strelka-varscan-mutect	FREM2,missense_variant,p.Glu939Asp,ENST00000280481,NM_207361.5;	C	ENST00000280481	Transcript	missense_variant	3033/16070	2817/9510	939/3169	E/D	gaA/gaC		1		1	FREM2	HGNC	HGNC:25396	protein_coding	YES	CCDS31960.1	ENSP00000280481	Q5SZK8		UPI000443805C	NM_207361.5	deleterious(0.03)		1/24		hmmpanther:PTHR11878:SF32,hmmpanther:PTHR11878																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	74	38690161	38690161	A	C	1	0	0	0	0	1	0	0	0	5912	69	3	5		5	FREM2	13	38690161	Missense_Mutation	SNP	A	C3N-01405_TP	6352536	38690161	75674167	324	24271											
INTS6	0	.	GRCh38	chr13	51452027	51452027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaccagcatatacctgtctCctctgctggcagggtcccgg	6	10	11	14	1	2	1	0	1	2	0	4	1	3	1	4	3	3	3	4	3	2	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.140G>T	p.Gly47Val	p.G47V	ENST00000311234	2/18	241	192	49	245	245	0	strelka-varscan-mutect	INTS6,missense_variant,p.Gly47Val,ENST00000442263,NM_001039938.1;INTS6,missense_variant,p.Gly34Val,ENST00000398119,NM_001039937.1;INTS6,missense_variant,p.Gly47Val,ENST00000311234,NM_012141.2;INTS6,missense_variant,p.Gly34Val,ENST00000483288,;INTS6,missense_variant,p.Gly34Val,ENST00000485178,;INTS6,upstream_gene_variant,,ENST00000491189,;INTS6,upstream_gene_variant,,ENST00000488009,;INTS6-AS1,upstream_gene_variant,,ENST00000601034,;INTS6-AS1,upstream_gene_variant,,ENST00000594604,;INTS6-AS1,upstream_gene_variant,,ENST00000598905,;INTS6-AS1,upstream_gene_variant,,ENST00000594959,;INTS6-AS1,upstream_gene_variant,,ENST00000601572,;INTS6-AS1,upstream_gene_variant,,ENST00000596050,;INTS6-AS1,upstream_gene_variant,,ENST00000598864,;INTS6-AS1,upstream_gene_variant,,ENST00000599315,;INTS6-AS1,upstream_gene_variant,,ENST00000595435,;INTS6-AS1,upstream_gene_variant,,ENST00000597745,;INTS6-AS1,upstream_gene_variant,,ENST00000602089,;INTS6-AS1,upstream_gene_variant,,ENST00000593672,;INTS6-AS1,upstream_gene_variant,,ENST00000594358,;INTS6-AS1,upstream_gene_variant,,ENST00000596180,;INTS6-AS1,upstream_gene_variant,,ENST00000593429,;INTS6-AS1,upstream_gene_variant,,ENST00000593709,;INTS6-AS1,upstream_gene_variant,,ENST00000601318,;INTS6-AS1,upstream_gene_variant,,ENST00000593928,;INTS6-AS1,upstream_gene_variant,,ENST00000600477,;INTS6-AS1,upstream_gene_variant,,ENST00000596303,;INTS6-AS1,upstream_gene_variant,,ENST00000626895,;INTS6-AS1,upstream_gene_variant,,ENST00000594488,;INTS6-AS1,upstream_gene_variant,,ENST00000629988,;INTS6-AS1,upstream_gene_variant,,ENST00000434512,;INTS6-AS1,upstream_gene_variant,,ENST00000595997,;INTS6-AS1,upstream_gene_variant,,ENST00000610618,;INTS6-AS1,upstream_gene_variant,,ENST00000595424,;INTS6,non_coding_transcript_exon_variant,,ENST00000491723,;INTS6,non_coding_transcript_exon_variant,,ENST00000461515,;INTS6,non_coding_transcript_exon_variant,,ENST00000486195,;RPS4XP16,upstream_gene_variant,,ENST00000595905,;RPS4XP16,upstream_gene_variant,,ENST00000596904,;INTS6,upstream_gene_variant,,ENST00000491997,;INTS6,missense_variant,p.Gly47Val,ENST00000469430,;	A	ENST00000311234	Transcript	missense_variant	613/3662	140/2664	47/887	G/V	gGa/gTa		1		-1	INTS6	HGNC	HGNC:14879	protein_coding	YES	CCDS9428.1	ENSP00000310260	Q9UL03	A0A024RDU0	UPI0000030C84	NM_012141.2	deleterious(0.02)		2/18		PROSITE_profiles:PS50234,hmmpanther:PTHR12957:SF23,hmmpanther:PTHR12957,Pfam_domain:PF13519,Gene3D:3.40.50.410,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	51452027	51452027	C	A	1	0	0	0	0	1	0	0	0	7684	855	30	2		2	INTS6	13	51452027	Missense_Mutation	SNP	C	C3N-01405_TP	12761866	51452027	62912301	325	24272											
ATP7B	0	.	GRCh38	chr13	51937493	51937493	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgataaggacgacgtCggctgcctcgatggccacat	9	8	11	13	4	1	1	0	1	1	0	3	4	1	2	2	3	1	1	2	3	1	1	rs199821556		C3N-01405_TP	C3N-01405_NB	C	C																c.3886G>T	p.Asp1296Tyr	p.D1296Y	ENST00000242839	18/21	491	367	124	384	384	0	strelka-varscan-mutect	ATP7B,missense_variant,p.Asp1296Tyr,ENST00000242839,NM_000053.3;ATP7B,missense_variant,p.Asp1218Tyr,ENST00000448424,;ATP7B,missense_variant,p.Asp1185Tyr,ENST00000400366,NM_001243182.1;ATP7B,missense_variant,p.Asp1089Tyr,ENST00000344297,NM_001005918.2;ATP7B,missense_variant,p.Asp1248Tyr,ENST00000634844,;ATP7B,missense_variant,p.Asp1231Tyr,ENST00000418097,;ATP7B,missense_variant,p.Asp866Tyr,ENST00000400370,;ATP7B,upstream_gene_variant,,ENST00000634519,;ATP7B,3_prime_UTR_variant,,ENST00000634308,;ATP7B,3_prime_UTR_variant,,ENST00000634296,;ATP7B,non_coding_transcript_exon_variant,,ENST00000634810,;ATP7B,non_coding_transcript_exon_variant,,ENST00000634620,;	A	ENST00000242839	Transcript	missense_variant	4043/6638	3886/4398	1296/1465	D/Y	Gac/Tac	rs199821556,CM023025	1		-1	ATP7B	HGNC	HGNC:870	protein_coding	YES	CCDS41892.1	ENSP00000242839	P35670	A0A024RDX3	UPI00001FCE15	NM_000053.3	deleterious(0)		18/21		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF326,TIGRFAM_domain:TIGR01494,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01525,Superfamily_domains:SSF56784,Prints_domain:PR00119										uncertain_significance							MODERATE	1	SNV	1		1,1	1										PASS		rs199821556	.												A	3	1	74	51937493	51937493	C	A	1	0	0	0	0	1	0	0	0	1344	884	31	1		1	ATP7B	13	51937493	Missense_Mutation	SNP	C	C3N-01405_TP	485466	51937493	62426835	326	24273											
CCDC168	0	.	GRCh38	chr13	102733240	102733240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctatattttggggggcattCcagttggtgacgatacttat	8	16	11	6	1	1	1	0	1	1	0	2	2	2	1	1	4	1	2	1	4	4	8	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.17457G>T	p.Trp5819Cys	p.W5819C	ENST00000322527	4/4	167	147	20	146	146	0	strelka-varscan-mutect	CCDC168,missense_variant,p.Trp5819Cys,ENST00000322527,NM_001146197.1;	A	ENST00000322527	Transcript	missense_variant	17595/21466	17457/21246	5819/7081	W/C	tgG/tgT		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	tolerated(0.18)		4/4		hmmpanther:PTHR35542,hmmpanther:PTHR35542:SF1																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	74	102733240	102733240	C	A	1	0	0	0	0	1	0	0	0	2484	856	30	2		2	CCDC168	13	102733240	Missense_Mutation	SNP	C	C3N-01405_TP	50795747	102733240	11631088	327	24274											
CCDC168	0	.	GRCh38	chr13	102741635	102741635	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcttcttgtttcagcAattcttgctcctggcaagtc	9	16	6	10	0	4	0	1	0	3	0	6	0	5	0	1	1	2	4	1	1	4	6	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.9062T>G	p.Leu3021Trp	p.L3021W	ENST00000322527	4/4	212	166	46	239	239	0	strelka-varscan-mutect	CCDC168,missense_variant,p.Leu3021Trp,ENST00000322527,NM_001146197.1;LINC00283,upstream_gene_variant,,ENST00000430111,;	C	ENST00000322527	Transcript	missense_variant	9200/21466	9062/21246	3021/7081	L/W	tTg/tGg		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	deleterious(0.03)		4/4																			MODERATE	1	SNV	3			1										PASS		.	.												C	3	2	74	102741635	102741635	A	C	1	0	0	0	0	1	0	0	0	2484	131	5	5		5	CCDC168	13	102741635	Missense_Mutation	SNP	A	C3N-01405_TP	8395	102741635	11622693	328	24275											
COL4A2	0	.	GRCh38	chr13	110450380	110450380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcatccctgcgctctacgGgggcccacctggacctgatg	5	7	13	16	3	1	1	0	1	1	0	2	2	2	2	4	4	2	2	4	4	1	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1265G>T	p.Gly422Val	p.G422V	ENST00000360467	20/48	257	220	37	187	187	0	strelka-varscan-mutect	COL4A2,missense_variant,p.Gly422Val,ENST00000360467,NM_001846.2;	T	ENST00000360467	Transcript	missense_variant	1571/6281	1265/5139	422/1712	G/V	gGg/gTg		1		1	COL4A2	HGNC	HGNC:2203	protein_coding	YES	CCDS41907.1	ENSP00000353654	P08572	A0A024RDW8	UPI000041C713	NM_001846.2	tolerated(0.09)		20/48		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs1338436328	.												T	3	4	74	110450380	110450380	G	T	1	0	0	0	0	1	0	0	0	3479	1232	43	2		2	COL4A2	13	110450380	Missense_Mutation	SNP	G	C3N-01405_TP	7708745	110450380	3913948	329	24276											
OR11H12	0	.	GRCh38	chr14	18602032	18602032	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcaatccccttatctatAgcctccagaataaggagata	13	12	5	11	0	3	2	1	0	2	2	5	3	5	2	4	1	1	0	4	1	7	6	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.916A>T	p.Ser306Cys	p.S306C	ENST00000550708	1/1	127	84	43	81	81	0	strelka-varscan-mutect	OR11H12,missense_variant,p.Ser306Cys,ENST00000550708,NM_001013354.1;	T	ENST00000550708	Transcript	missense_variant	988/1085	916/981	306/326	S/C	Agc/Tgc		1		1	OR11H12	HGNC	HGNC:30738	protein_coding	YES	CCDS32017.1	ENSP00000449002	B2RN74		UPI00004EAFF2	NM_001013354.1	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF201,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	74	18602032	18602032	A	T	1	0	0	0	0	1	0	0	0	11003	420	15	4		4	OR11H12	14	18602032	Missense_Mutation	SNP	A	C3N-01405_TP		18602032	88441686	330	24277											
ARHGAP5	0	.	GRCh38	chr14	32152521	32152521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagatacgtgataacacatCtaaacaggtatttttatttt	14	16	5	6	1	2	2	1	1	1	1	2	2	2	2	0	1	3	1	0	1	6	9	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.4174C>T	p.=	p.L1392L	ENST00000345122	6/7	221	208	13	121	121	0	varscan-mutect	ARHGAP5,synonymous_variant,p.=,ENST00000345122,NM_001030055.1;ARHGAP5,synonymous_variant,p.=,ENST00000396582,;ARHGAP5,synonymous_variant,p.=,ENST00000432921,;ARHGAP5,synonymous_variant,p.=,ENST00000539826,;ARHGAP5,synonymous_variant,p.=,ENST00000556611,NM_001173.2;ARHGAP5,synonymous_variant,p.=,ENST00000433497,;ARHGAP5,synonymous_variant,p.=,ENST00000554090,;ARHGAP5,3_prime_UTR_variant,,ENST00000557643,;ARHGAP5,upstream_gene_variant,,ENST00000216743,;	T	ENST00000345122	Transcript	synonymous_variant	4489/9604	4174/4509	1392/1502	L	Cta/Tta		1		1	ARHGAP5	HGNC	HGNC:675	protein_coding	YES	CCDS32062.1	ENSP00000371897	Q13017		UPI000057B85C	NM_001030055.1			6/7		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4,SMART_domains:SM00324,Superfamily_domains:SSF48350																	LOW	1	SNV	5			1										PASS		rs1374270897	.												T	2	4	74	32152521	32152521	C	T	1	0	0	0	0	0	0	0	1	1016	912	32	3		3	ARHGAP5	14	32152521	Silent	SNP	C	C3N-01405_TP	13550489	32152521	74891197	331	24278											
TTC6	0	.	GRCh38	chr14	37622280	37622280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcgccgcagcccggacGtcgagaagatacccttcgct	7	7	11	16	6	0	2	0	0	0	2	3	4	1	3	4	1	3	2	4	1	2	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.77G>T	p.Arg26Leu	p.R26L	ENST00000556845	3/3	215	198	17	167	167	0	strelka-varscan-mutect	TTC6,missense_variant,p.Arg26Leu,ENST00000556845,;TTC6,synonymous_variant,p.=,ENST00000553443,;TTC6,synonymous_variant,p.=,ENST00000533625,;	T	ENST00000556845	Transcript	missense_variant	473/511	77/115	26/38	R/L	cGt/cTt		1		1	TTC6	HGNC	HGNC:19739	protein_coding			ENSP00000450572		G3V2C3	UPI00021CF1B3				3/3		Low_complexity_(Seg):seg																	MODERATE		SNV	3			1										PASS		.	.												T	3	4	74	37622280	37622280	G	T	1	0	0	0	0	1	0	0	0	17221	1132	40	1		1	TTC6	14	37622280	Missense_Mutation	SNP	G	C3N-01405_TP	5469759	37622280	69421438	332	24279											
SOCS4	0	.	GRCh38	chr14	55043254	55043254	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagaaaggaagcacagctgTtcatccattgagttggactt	13	10	10	8	0	1	2	1	1	0	1	2	4	2	4	1	2	2	4	1	2	3	4	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.213T>C	p.=	p.C71C	ENST00000395472	2/2	233	192	41	175	175	0	strelka-varscan-mutect	SOCS4,synonymous_variant,p.=,ENST00000395472,NM_080867.2;SOCS4,synonymous_variant,p.=,ENST00000339298,;SOCS4,synonymous_variant,p.=,ENST00000555846,NM_199421.1;	C	ENST00000395472	Transcript	synonymous_variant	545/6779	213/1323	71/440	C	tgT/tgC		1		1	SOCS4	HGNC	HGNC:19392	protein_coding	YES	CCDS9722.1	ENSP00000378855	Q8WXH5	Q5H9R6	UPI000000CC33	NM_080867.2			2/2		Pfam_domain:PF12610																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	74	55043254	55043254	T	C	1	0	0	0	0	0	0	0	1	15237	1731	60	5		5	SOCS4	14	55043254	Silent	SNP	T	C3N-01405_TP	17420974	55043254	52000464	333	24280											
RTN1	0	.	GRCh38	chr14	59607377	59607377	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagagtgcggccagggcCaggtaggccacgacgctcac	8	4	16	13	3	1	1	1	1	0	1	1	3	1	1	3	4	1	3	3	4	1	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1881G>T	p.=	p.L627L	ENST00000267484	4/9	447	347	100	347	346	1	strelka-varscan-mutect	RTN1,synonymous_variant,p.=,ENST00000267484,NM_021136.2;RTN1,synonymous_variant,p.=,ENST00000611068,;RTN1,synonymous_variant,p.=,ENST00000342503,NM_206852.2;RTN1,synonymous_variant,p.=,ENST00000395090,;RTN1,non_coding_transcript_exon_variant,,ENST00000557422,;RTN1,non_coding_transcript_exon_variant,,ENST00000432103,;RTN1,non_coding_transcript_exon_variant,,ENST00000474911,;RTN1,upstream_gene_variant,,ENST00000481205,;RTN1,upstream_gene_variant,,ENST00000490111,;	A	ENST00000267484	Transcript	synonymous_variant	2217/3435	1881/2331	627/776	L	ctG/ctT		1		-1	RTN1	HGNC	HGNC:10467	protein_coding	YES	CCDS9740.1	ENSP00000267484	Q16799		UPI00001352DA	NM_021136.2			4/9		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50845,hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994,Pfam_domain:PF02453																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	59607377	59607377	C	A	1	0	0	0	0	0	0	0	1	13985	581	21	2		2	RTN1	14	59607377	Silent	SNP	C	C3N-01405_TP	4564123	59607377	47436341	334	24281											
ZFYVE26	0	.	GRCh38	chr14	67762241	67762241	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgtggactctaggtactCaaccacatcctgcaccagcc	10	8	7	16	0	2	0	1	0	1	0	3	1	3	1	4	2	4	2	4	2	3	2			C3N-01405_TP	C3N-01405_NB	C	C																c.6331G>C	p.Glu2111Gln	p.E2111Q	ENST00000347230	34/42	411	355	56	282	282	0	strelka-varscan-mutect	ZFYVE26,missense_variant,p.Glu2111Gln,ENST00000347230,NM_015346.3;ZFYVE26,missense_variant,p.Glu2111Gln,ENST00000555452,;ZFYVE26,upstream_gene_variant,,ENST00000557306,;ZFYVE26,3_prime_UTR_variant,,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000394455,;	G	ENST00000347230	Transcript	missense_variant	6470/9675	6331/7620	2111/2539	E/Q	Gag/Cag	COSM698889	1		-1	ZFYVE26	HGNC	HGNC:20761	protein_coding	YES	CCDS9788.1	ENSP00000251119	Q68DK2		UPI00001FD735	NM_015346.3	tolerated(1)		34/42													1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	74	67762241	67762241	C	G	1	0	0	0	0	1	0	0	0	18245	835	29	4		4	ZFYVE26	14	67762241	Missense_Mutation	SNP	C	C3N-01405_TP	8154864	67762241	39281477	335	24282											
ZNF410	0	.	GRCh38	chr14	73898141	73898141	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattcagggaatgatttcctCtccagtgagagcacagacag	12	9	11	9	0	2	3	1	2	1	2	4	6	3	4	2	1	1	1	2	1	1	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.510C>G	p.=	p.L170L	ENST00000442160	6/14	243	179	64	209	209	0	strelka-varscan-mutect	ZNF410,synonymous_variant,p.=,ENST00000555044,NM_021188.2,NM_001242928.1;ZNF410,synonymous_variant,p.=,ENST00000324593,NM_001242926.1;ZNF410,synonymous_variant,p.=,ENST00000334521,;ZNF410,synonymous_variant,p.=,ENST00000442160,NM_001242924.1;ZNF410,synonymous_variant,p.=,ENST00000540593,NM_001242927.1;ZNF410,synonymous_variant,p.=,ENST00000615736,;ZNF410,synonymous_variant,p.=,ENST00000556797,;ZNF410,synonymous_variant,p.=,ENST00000557363,;ZNF410,downstream_gene_variant,,ENST00000556160,;ZNF410,downstream_gene_variant,,ENST00000556659,;ZNF410,downstream_gene_variant,,ENST00000557495,;ZNF410,downstream_gene_variant,,ENST00000555730,;ZNF410,downstream_gene_variant,,ENST00000554797,;RP5-1021I20.5,intron_variant,,ENST00000554009,;ZNF410,non_coding_transcript_exon_variant,,ENST00000412490,;ZNF410,non_coding_transcript_exon_variant,,ENST00000541357,;ZNF410,non_coding_transcript_exon_variant,,ENST00000555602,;ZNF410,synonymous_variant,p.=,ENST00000398139,;RP5-1021I20.4,3_prime_UTR_variant,,ENST00000556551,;ZNF410,3_prime_UTR_variant,,ENST00000556396,;ZNF410,3_prime_UTR_variant,,ENST00000554582,;	G	ENST00000442160	Transcript	synonymous_variant	704/2076	510/1551	170/516	L	ctC/ctG		1		1	ZNF410	HGNC	HGNC:20144	protein_coding	YES	CCDS55929.1	ENSP00000407130	Q86VK4		UPI00017A6BE1	NM_001242924.1			6/14																			LOW	1	SNV	1			1										PASS		rs1490364649	.												G	2	3	74	73898141	73898141	C	G	1	0	0	0	0	0	0	0	1	18462	900	32	4		4	ZNF410	14	73898141	Silent	SNP	C	C3N-01405_TP	6135900	73898141	33145577	336	24283											
SERPINA9	0	.	GRCh38	chr14	94469631	94469631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggagacactcacaggggaGaagaagatgttctgactcgg	12	7	15	7	1	2	5	1	1	1	4	3	7	2	5	0	4	0	1	0	4	2	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.264C>G	p.Phe88Leu	p.F88L	ENST00000337425	2/5	168	117	51	135	135	0	strelka-varscan-mutect	SERPINA9,missense_variant,p.Phe88Leu,ENST00000337425,NM_001284275.1,NM_175739.3;SERPINA9,missense_variant,p.Phe88Leu,ENST00000298845,NM_001042518.1;SERPINA9,missense_variant,p.Phe70Leu,ENST00000380365,;SERPINA9,missense_variant,p.Phe52Leu,ENST00000546329,;SERPINA9,5_prime_UTR_variant,,ENST00000448305,;SERPINA9,intron_variant,,ENST00000424550,NM_001284276.1;RP11-349I1.2,downstream_gene_variant,,ENST00000536735,;SERPINA9,downstream_gene_variant,,ENST00000539349,;SERPINA9,missense_variant,p.Leu116Val,ENST00000538527,;	C	ENST00000337425	Transcript	missense_variant	339/1755	264/1308	88/435	F/L	ttC/ttG		1		-1	SERPINA9	HGNC	HGNC:15995	protein_coding	YES	CCDS41982.1	ENSP00000337133	Q86WD7		UPI000024706E	NM_001284275.1,NM_175739.3	deleterious(0.03)		2/5		hmmpanther:PTHR11461:SF40,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	74	94469631	94469631	G	C	1	0	0	0	0	1	0	0	0	14371	933	33	4		4	SERPINA9	14	94469631	Missense_Mutation	SNP	G	C3N-01405_TP	20571490	94469631	12574087	337	24284											
BCL11B	0	.	GRCh38	chr14	99175566	99175566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcacgacttgctcttggCtggcggctgcgggggcggcg	2	8	18	13	6	1	0	0	0	1	0	2	1	1	0	0	6	2	4	0	6	0	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1270G>A	p.Ala424Thr	p.A424T	ENST00000357195	4/4	97	86	11	98	98	0	strelka-varscan-mutect	BCL11B,missense_variant,p.Ala353Thr,ENST00000345514,NM_001282238.1,NM_022898.2;BCL11B,missense_variant,p.Ala424Thr,ENST00000357195,NM_001282237.1,NM_138576.3;BCL11B,missense_variant,p.Ala230Thr,ENST00000443726,;	T	ENST00000357195	Transcript	missense_variant	1280/7559	1270/2685	424/894	A/T	Gcc/Acc		1		-1	BCL11B	HGNC	HGNC:13222	protein_coding	YES	CCDS9950.1	ENSP00000349723	Q9C0K0	L8B7P7	UPI000006E083	NM_001282237.1,NM_138576.3	tolerated(0.6)		4/4		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1163567345	.												T	3	4	74	99175566	99175566	C	T	1	0	0	0	0	1	0	0	0	1511	797	28	3		3	BCL11B	14	99175566	Missense_Mutation	SNP	C	C3N-01405_TP	4705935	99175566	7868152	338	24285											
BCL11B	0	.	GRCh38	chr14	99176040	99176040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccggcccgagcggcggcgGgatggtgagccgcggcgtga	4	4	20	13	8	0	2	0	2	0	0	1	4	1	3	3	6	2	0	3	6	0	0	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.796C>A	p.Pro266Thr	p.P266T	ENST00000357195	4/4	110	94	16	68	67	1	strelka-varscan-mutect	BCL11B,missense_variant,p.Pro195Thr,ENST00000345514,NM_001282238.1,NM_022898.2;BCL11B,missense_variant,p.Pro266Thr,ENST00000357195,NM_001282237.1,NM_138576.3;BCL11B,missense_variant,p.Pro72Thr,ENST00000443726,;	T	ENST00000357195	Transcript	missense_variant	806/7559	796/2685	266/894	P/T	Ccg/Acg		1		-1	BCL11B	HGNC	HGNC:13222	protein_coding	YES	CCDS9950.1	ENSP00000349723	Q9C0K0	L8B7P7	UPI000006E083	NM_001282237.1,NM_138576.3	deleterious(0.02)		4/4		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45																	MODERATE	1	SNV	1			1										PASS		rs1290896821	.												T	3	4	74	99176040	99176040	G	T	1	0	0	0	0	1	0	0	0	1511	1232	43	2		2	BCL11B	14	99176040	Missense_Mutation	SNP	G	C3N-01405_TP	474	99176040	7867678	339	24286											
TDRD9	0	.	GRCh38	chr14	103998677	103998677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgaagatacaaattatCagagtctgcgattgagttgg	13	12	12	4	1	2	5	1	3	1	2	2	6	2	5	0	1	2	1	0	1	4	4	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1432C>A	p.Gln478Lys	p.Q478K	ENST00000409874	13/36	171	153	18	196	196	0	strelka-varscan-mutect	TDRD9,missense_variant,p.Gln478Lys,ENST00000409874,NM_153046.2;TDRD9,missense_variant,p.Gln193Lys,ENST00000339063,;TDRD9,missense_variant,p.Gln205Lys,ENST00000557332,;	A	ENST00000409874	Transcript	missense_variant	1480/4782	1432/4149	478/1382	Q/K	Cag/Aag		1		1	TDRD9	HGNC	HGNC:20122	protein_coding	YES	CCDS9987.2	ENSP00000387303	Q8NDG6		UPI0001642306	NM_153046.2	deleterious(0.02)		13/36		PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF113,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	74	103998677	103998677	C	A	1	0	0	0	0	1	0	0	0	16146	827	29	2		2	TDRD9	14	103998677	Missense_Mutation	SNP	C	C3N-01405_TP	4822637	103998677	3045041	340	24287											
TMEM121	0	.	GRCh38	chr14	105529140	105529140	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactacaaggcggcgcggcgCggcgcggcggaccccgtggc	6	2	18	15	9	0	0	0	0	0	0	0	1	0	1	2	7	2	0	2	7	3	1			C3N-01405_TP	C3N-01405_NB	C	C																c.306C>G	p.=	p.R102R	ENST00000392519	2/2	237	181	56	185	185	0	strelka-varscan-mutect	TMEM121,synonymous_variant,p.=,ENST00000392519,NM_025268.2;TMEM121,synonymous_variant,p.=,ENST00000431372,;TMEM121,downstream_gene_variant,,ENST00000552019,;	G	ENST00000392519	Transcript	synonymous_variant	470/1532	306/960	102/319	R	cgC/cgG	COSM1267997	1		1	TMEM121	HGNC	HGNC:20511	protein_coding	YES	CCDS10006.1	ENSP00000376304	Q9BTD3		UPI0000073639	NM_025268.2			2/2		Pfam_domain:PF14997,hmmpanther:PTHR31046,hmmpanther:PTHR31046:SF0											1						LOW	1	SNV	1		1	1										PASS		.	.												G	2	3	74	105529140	105529140	C	G	1	0	0	0	0	0	0	0	1	16479	755	27	4		4	TMEM121	14	105529140	Silent	SNP	C	C3N-01405_TP	1530463	105529140	1514578	341	24288											
NPAP1	0	.	GRCh38	chr15	24677795	24677795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaactctttggaaaagaagCcacccctcagcccaaatttg	13	8	6	14	0	2	1	1	0	1	1	2	2	2	2	5	1	3	0	5	1	5	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1928C>A	p.Ala643Asp	p.A643D	ENST00000329468	1/1	278	215	63	204	203	1	strelka-varscan-mutect	NPAP1,missense_variant,p.Ala643Asp,ENST00000329468,NM_018958.2;	A	ENST00000329468	Transcript	missense_variant	1928/7526	1928/3471	643/1156	A/D	gCc/gAc		1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2	tolerated(0.49)		1/1		hmmpanther:PTHR23193:SF15,hmmpanther:PTHR23193																	MODERATE	1	SNV				1										PASS		rs1190298963	.												A	3	1	74	24677795	24677795	C	A	1	0	0	0	0	1	0	0	0	10609	739	26	2		2	NPAP1	15	24677795	Missense_Mutation	SNP	C	C3N-01405_TP		24677795	77313394	342	24289											
HERC2	0	.	GRCh38	chr15	28233161	28233161	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttacctctctttttccttcGttctcgaattatcttttgag	5	21	4	11	2	3	1	0	1	3	0	7	2	4	1	2	0	1	1	2	0	3	8	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.4660C>A	p.=	p.R1554R	ENST00000261609	30/93	166	153	13	173	173	0	varscan-mutect	HERC2,synonymous_variant,p.=,ENST00000261609,NM_004667.5;HERC2,upstream_gene_variant,,ENST00000569335,;	T	ENST00000261609	Transcript	synonymous_variant	4769/15337	4660/14505	1554/4834	R	Cga/Aga		1		-1	HERC2	HGNC	HGNC:4868	protein_coding	YES	CCDS10021.1	ENSP00000261609	O95714		UPI00004578F7	NM_004667.5			30/93		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1262852390	.												T	2	4	74	28233161	28233161	G	T	1	0	0	0	0	0	0	0	1	6942	1153	40	1		1	HERC2	15	28233161	Silent	SNP	G	C3N-01405_TP	3555366	28233161	73758028	343	24290											
RYR3	0	.	GRCh38	chr15	33586086	33586086	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacatcaagtcgatcatctcCctgttggataagcacgggcg	10	9	10	12	3	3	0	2	0	1	0	5	2	3	1	1	2	1	2	1	2	2	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1758C>A	p.=	p.S586S	ENST00000634891	16/104	160	121	39	152	152	0	strelka-varscan-mutect	RYR3,synonymous_variant,p.=,ENST00000634891,NM_001036.4;RYR3,synonymous_variant,p.=,ENST00000622037,;RYR3,synonymous_variant,p.=,ENST00000415757,NM_001243996.2;RYR3,synonymous_variant,p.=,ENST00000389232,;RYR3,synonymous_variant,p.=,ENST00000634418,;	A	ENST00000634891	Transcript	synonymous_variant	1859/15591	1758/14613	586/4870	S	tcC/tcA		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4			16/104		Pfam_domain:PF01365,PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		rs1453797967	.												A	2	1	74	33586086	33586086	C	A	1	0	0	0	0	0	0	0	1	14030	610	22	2		2	RYR3	15	33586086	Silent	SNP	C	C3N-01405_TP	5352925	33586086	68405103	344	24291											
MAPKBP1	0	.	GRCh38	chr15	41817664	41817664	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacgtggtgcggaagacGaccctctatgacatggatgt	10	8	12	11	3	1	2	0	1	1	1	1	5	1	4	2	3	1	0	2	3	2	1	rs749115120		C3N-01405_TP	C3N-01405_NB	G	G																c.1851G>T	p.=	p.T617T	ENST00000456763	17/32	239	188	51	257	257	0	strelka-varscan-mutect	MAPKBP1,synonymous_variant,p.=,ENST00000457542,NM_014994.2;MAPKBP1,synonymous_variant,p.=,ENST00000456763,NM_001128608.1;MAPKBP1,synonymous_variant,p.=,ENST00000514566,NM_001265611.1;MAPKBP1,3_prime_UTR_variant,,ENST00000512970,;MAPKBP1,3_prime_UTR_variant,,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;MAPKBP1,downstream_gene_variant,,ENST00000502292,;MAPKBP1,downstream_gene_variant,,ENST00000515164,;MAPKBP1,upstream_gene_variant,,ENST00000508050,;MAPKBP1,upstream_gene_variant,,ENST00000512433,;MAPKBP1,upstream_gene_variant,,ENST00000502695,;MAPKBP1,upstream_gene_variant,,ENST00000506301,;MAPKBP1,downstream_gene_variant,,ENST00000503526,;	T	ENST00000456763	Transcript	synonymous_variant	2047/7158	1851/4545	617/1514	T	acG/acT	rs749115120	1		1	MAPKBP1	HGNC	HGNC:29536	protein_coding	YES	CCDS45239.1	ENSP00000393099	O60336		UPI00002375CB	NM_001128608.1			17/32		PROSITE_profiles:PS50294,hmmpanther:PTHR22847:SF432,hmmpanther:PTHR22847,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		rs749115120	.												T	2	4	74	41817664	41817664	G	T	1	0	0	0	0	0	0	0	1	9216	1045	37	1		1	MAPKBP1	15	41817664	Silent	SNP	G	C3N-01405_TP	8231578	41817664	60173525	345	24292											
MAPKBP1	0	.	GRCh38	chr15	41825207	41825207	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctgggggtgctatttcAggtggctggctgcaagatgc	6	12	15	8	0	2	1	1	0	1	1	2	1	2	1	0	5	3	4	0	5	2	3	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.4318-2A>T		p.X1440_splice	ENST00000456763		34	25	9	34	34	0	strelka-varscan-mutect	MAPKBP1,splice_acceptor_variant,,ENST00000457542,NM_014994.2;MAPKBP1,splice_acceptor_variant,,ENST00000456763,NM_001128608.1;MAPKBP1,splice_acceptor_variant,,ENST00000514566,NM_001265611.1;JMJD7-PLA2G4B,upstream_gene_variant,,ENST00000382448,NM_005090.3;JMJD7-PLA2G4B,upstream_gene_variant,,ENST00000342159,NM_001198588.1;JMJD7,upstream_gene_variant,,ENST00000397299,NM_001114632.1;JMJD7,upstream_gene_variant,,ENST00000408047,;JMJD7,upstream_gene_variant,,ENST00000431823,;RP11-23P13.4,non_coding_transcript_exon_variant,,ENST00000510176,;RP11-23P13.4,downstream_gene_variant,,ENST00000512295,;JMJD7,upstream_gene_variant,,ENST00000405106,;MAPKBP1,splice_acceptor_variant,,ENST00000505061,;MAPKBP1,splice_acceptor_variant,,ENST00000512970,;MAPKBP1,splice_acceptor_variant,,ENST00000505373,;JMJD7-PLA2G4B,upstream_gene_variant,,ENST00000491746,;JMJD7-PLA2G4B,upstream_gene_variant,,ENST00000490848,;MAPKBP1,downstream_gene_variant,,ENST00000508050,;MAPKBP1,downstream_gene_variant,,ENST00000512433,;MAPKBP1,downstream_gene_variant,,ENST00000502695,;MAPKBP1,downstream_gene_variant,,ENST00000506301,;	T	ENST00000456763	Transcript	splice_acceptor_variant	-/7158	4318/4545	1440/1514				1		1	MAPKBP1	HGNC	HGNC:29536	protein_coding	YES	CCDS45239.1	ENSP00000393099	O60336		UPI00002375CB	NM_001128608.1				31/31																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	74	41825207	41825207	A	T	1	0	0	0	0	0	0	1	0	9216	202	7	4		4	MAPKBP1	15	41825207	Splice_Site	SNP	A	C3N-01405_TP	7543	41825207	60165982	346	24293											
CAPN3	0	.	GRCh38	chr15	42394264	42394264	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtgcttaaggtcccgttCaaaggtgagaaagtgaagct	11	11	13	6	1	1	2	1	2	0	1	2	3	2	2	1	2	2	3	1	2	4	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1038C>G	p.Phe346Leu	p.F346L	ENST00000397163	8/24	364	305	59	313	313	0	strelka-varscan-mutect	CAPN3,missense_variant,p.Phe346Leu,ENST00000397163,NM_000070.2;CAPN3,missense_variant,p.Phe298Leu,ENST00000318023,;CAPN3,missense_variant,p.Phe298Leu,ENST00000349748,NM_173087.1;CAPN3,missense_variant,p.Phe346Leu,ENST00000357568,NM_024344.1;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000495723,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000466369,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000549793,;RP11-164J13.1,non_coding_transcript_exon_variant,,ENST00000483208,;CAPN3,non_coding_transcript_exon_variant,,ENST00000638141,;	G	ENST00000397163	Transcript	missense_variant	1257/3228	1038/2466	346/821	F/L	ttC/ttG		1		1	CAPN3	HGNC	HGNC:1480	protein_coding	YES	CCDS45245.1	ENSP00000380349	P20807		UPI000000103F	NM_000070.2	tolerated(0.17)		8/24		PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF320,Pfam_domain:PF00648,Gene3D:3.90.70.10,SMART_domains:SM00230,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		rs1469128441	.												G	3	3	74	42394264	42394264	C	G	1	0	0	0	0	1	0	0	0	2322	825	29	4		4	CAPN3	15	42394264	Missense_Mutation	SNP	C	C3N-01405_TP	569057	42394264	59596925	347	24294											
TGM7	0	.	GRCh38	chr15	43279216	43279216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgccagacacgcggatgagCttttcgtccgttagcttgtt	7	13	11	10	4	0	2	0	1	0	1	2	3	1	3	2	1	3	4	2	1	1	5	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1740G>T	p.Lys580Asn	p.K580N	ENST00000452443	11/13	169	138	31	165	165	0	strelka-varscan-mutect	TGM7,missense_variant,p.Lys580Asn,ENST00000452443,NM_052955.2;TGM7,upstream_gene_variant,,ENST00000562372,;	A	ENST00000452443	Transcript	missense_variant	1745/2313	1740/2133	580/710	K/N	aaG/aaT		1		-1	TGM7	HGNC	HGNC:30790	protein_coding	YES	CCDS32213.1	ENSP00000389466	Q96PF1		UPI0000049F68	NM_052955.2	deleterious(0.05)		11/13		hmmpanther:PTHR11590:SF41,hmmpanther:PTHR11590,PIRSF_domain:PIRSF000459,Gene3D:2.60.40.10,Superfamily_domains:SSF49309																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	43279216	43279216	C	A	1	0	0	0	0	1	0	0	0	16268	796	28	2		2	TGM7	15	43279216	Missense_Mutation	SNP	C	C3N-01405_TP	884952	43279216	58711973	348	24295											
IL16	0	.	GRCh38	chr15	81282722	81282722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttcgtccacacgctgtcaCcaggatccgtggcgcacctg	6	10	10	15	4	1	0	1	0	0	0	4	1	3	1	4	2	0	2	4	2	0	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1165C>A	p.Pro389Thr	p.P389T	ENST00000302987	8/18	174	133	41	139	139	0	strelka-varscan-mutect	IL16,missense_variant,p.Pro389Thr,ENST00000394660,NM_001172128.1;IL16,missense_variant,p.Pro389Thr,ENST00000302987,NM_172217.3;IL16,missense_variant,p.Pro389Thr,ENST00000559383,;IL16,missense_variant,p.Pro389Thr,ENST00000360547,;IL16,missense_variant,p.Pro106Thr,ENST00000560115,;IL16,missense_variant,p.Pro389Thr,ENST00000560241,;	A	ENST00000302987	Transcript	missense_variant	1165/3999	1165/3999	389/1332	P/T	Cca/Aca		1		1	IL16	HGNC	HGNC:5980	protein_coding	YES	CCDS42069.1	ENSP00000302935	Q14005		UPI0000229CE7	NM_172217.3	deleterious(0)		8/18		PROSITE_profiles:PS50106,hmmpanther:PTHR11324:SF2,hmmpanther:PTHR11324,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	81282722	81282722	C	A	1	0	0	0	0	1	0	0	0	7541	507	18	2		2	IL16	15	81282722	Missense_Mutation	SNP	C	C3N-01405_TP	38003506	81282722	20708467	349	24296											
ADAMTSL3	0	.	GRCh38	chr15	83820019	83820019	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttgcaacacggactcctTggacatgtgtatcagtggca	9	11	11	10	2	1	0	1	0	0	0	3	2	2	2	1	3	2	4	1	3	2	3	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.572T>A	p.Leu191Ter	p.L191*	ENST00000286744	6/30	201	155	46	181	181	0	strelka-varscan-mutect	ADAMTSL3,stop_gained,p.Leu191Ter,ENST00000286744,NM_207517.2;ADAMTSL3,stop_gained,p.Leu191Ter,ENST00000567476,NM_001301110.1;RNU6-1339P,downstream_gene_variant,,ENST00000363574,;ADAMTSL3,downstream_gene_variant,,ENST00000565653,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000569510,;	A	ENST00000286744	Transcript	stop_gained	796/7336	572/5076	191/1691	L/*	tTg/tAg		1		1	ADAMTSL3	HGNC	HGNC:14633	protein_coding	YES	CCDS10326.1	ENSP00000286744	P82987		UPI00001615A5	NM_207517.2			6/30		Prints_domain:PR01857,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF169																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	74	83820019	83820019	T	A	1	0	0	0	0	0	1	0	0	320	1821	63	4		4	ADAMTSL3	15	83820019	Nonsense_Mutation	SNP	T	C3N-01405_TP	2537297	83820019	18171170	350	24297											
ST8SIA2	0	.	GRCh38	chr15	92444868	92444868	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaacgagcttatcctgAagcaccacgtcaacgtgcgc	10	7	11	13	4	2	1	2	1	0	0	3	2	3	1	2	1	5	2	2	1	4	1	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.781A>T	p.Lys261Ter	p.K261*	ENST00000268164	5/6	225	164	61	165	165	0	strelka-varscan-mutect	ST8SIA2,stop_gained,p.Lys261Ter,ENST00000268164,NM_006011.3;ST8SIA2,stop_gained,p.Lys240Ter,ENST00000539113,;ST8SIA2,stop_gained,p.Lys218Ter,ENST00000555434,;ST8SIA2,non_coding_transcript_exon_variant,,ENST00000556382,;	T	ENST00000268164	Transcript	stop_gained	1018/5708	781/1128	261/375	K/*	Aag/Tag		1		1	ST8SIA2	HGNC	HGNC:10870	protein_coding	YES	CCDS10372.1	ENSP00000268164	Q92186	B2R9U8	UPI0000135970	NM_006011.3			5/6		hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF30,PIRSF_domain:PIRSF005557,Pfam_domain:PF00777																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	74	92444868	92444868	A	T	1	0	0	0	0	0	1	0	0	15610	247	9	4		4	ST8SIA2	15	92444868	Nonsense_Mutation	SNP	A	C3N-01405_TP	8624849	92444868	9546321	351	24298											
FAM169B	0	.	GRCh38	chr15	98480745	98480745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaataatggcgtttagaatGaaaagcacaaccctttcccc	16	9	6	10	1	0	2	0	1	0	1	1	2	1	2	3	1	2	2	3	1	8	4			C3N-01405_TP	C3N-01405_NB	G	G																c.39C>A	p.Phe13Leu	p.F13L	ENST00000332908	2/5	104	80	24	120	120	0	strelka-varscan-mutect	FAM169B,missense_variant,p.Phe13Leu,ENST00000332908,NM_182562.2;FAM169B,non_coding_transcript_exon_variant,,ENST00000558256,;FAM169B,non_coding_transcript_exon_variant,,ENST00000636796,;	T	ENST00000332908	Transcript	missense_variant	39/579	39/579	13/192	F/L	ttC/ttA	COSM1659815	1		-1	FAM169B	HGNC	HGNC:26835	protein_coding	YES	CCDS45360.1	ENSP00000332615	Q8N8A8	A0A0A0MR76	UPI0000199E5A	NM_182562.2	deleterious(0)		2/5		hmmpanther:PTHR22442											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	74	98480745	98480745	G	T	1	0	0	0	0	1	0	0	0	5334	1281	45	2		2	FAM169B	15	98480745	Missense_Mutation	SNP	G	C3N-01405_TP	6035877	98480745	3510444	352	24299											
BAIAP3	0	.	GRCh38	chr16	1346670	1346670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacgcctcgctggtgaaGgggaacctgagcaggtgcgg	8	6	17	10	3	0	3	0	3	0	0	1	4	0	4	2	5	4	2	2	5	3	0	rs542503250		C3N-01405_TP	C3N-01405_NB	G	G																c.2733G>T	p.Lys911Asn	p.K911N	ENST00000324385	27/34	206	163	43	177	177	0	strelka-varscan-mutect	BAIAP3,missense_variant,p.Lys893Asn,ENST00000628027,;BAIAP3,missense_variant,p.Lys911Asn,ENST00000324385,NM_003933.4;BAIAP3,missense_variant,p.Lys893Asn,ENST00000397488,NM_001286464.1;BAIAP3,missense_variant,p.Lys876Asn,ENST00000426824,NM_001199097.1;BAIAP3,missense_variant,p.Lys840Asn,ENST00000421665,NM_001199096.1;BAIAP3,missense_variant,p.Lys848Asn,ENST00000568887,NM_001199099.1;BAIAP3,missense_variant,p.Lys853Asn,ENST00000562208,NM_001199098.1;BAIAP3,missense_variant,p.Lys133Asn,ENST00000561793,;BAIAP3,intron_variant,,ENST00000566162,;TSR3,downstream_gene_variant,,ENST00000007390,NM_001001410.2;BAIAP3,non_coding_transcript_exon_variant,,ENST00000564213,;BAIAP3,non_coding_transcript_exon_variant,,ENST00000567203,;BAIAP3,downstream_gene_variant,,ENST00000567825,;BAIAP3,upstream_gene_variant,,ENST00000566389,;BAIAP3,downstream_gene_variant,,ENST00000568198,;TSR3,downstream_gene_variant,,ENST00000566296,;BAIAP3,downstream_gene_variant,,ENST00000561602,;	T	ENST00000324385	Transcript	missense_variant	2891/4678	2733/3564	911/1187	K/N	aaG/aaT	rs542503250	1		1	BAIAP3	HGNC	HGNC:948	protein_coding	YES	CCDS10434.1	ENSP00000324510	O94812		UPI0000071E58	NM_003933.4	deleterious(0.01)		27/34		PROSITE_profiles:PS51259,hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF65																	MODERATE	1	SNV	1			1										PASS		rs542503250	.												T	3	4	74	1346670	1346670	G	T	1	0	0	0	0	1	0	0	0	1456	991	35	2		2	BAIAP3	16	1346670	Missense_Mutation	SNP	G	C3N-01405_TP		1346670	88991675	353	24300											
PKD1	0	.	GRCh38	chr16	2110740	2110740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgcagctccagcccaaggGagccattgaccttgatgctg	8	8	12	13	0	0	2	0	2	0	0	1	3	1	3	4	1	5	4	4	1	1	2	rs563980883		C3N-01405_TP	C3N-01405_NB	G	G																c.4427C>T	p.Ser1476Phe	p.S1476F	ENST00000262304	15/46	291	259	32	266	266	0	varscan-mutect	PKD1,missense_variant,p.Ser1476Phe,ENST00000262304,NM_001009944.2;PKD1,missense_variant,p.Ser1476Phe,ENST00000423118,NM_000296.3;PKD1,intron_variant,,ENST00000488185,;PKD1,intron_variant,,ENST00000483024,;PKD1,upstream_gene_variant,,ENST00000612014,;RP11-304L19.4,upstream_gene_variant,,ENST00000568795,;PKD1,intron_variant,,ENST00000468674,;PKD1,upstream_gene_variant,,ENST00000561991,;PKD1,upstream_gene_variant,,ENST00000473780,;PKD1,upstream_gene_variant,,ENST00000483558,;PKD1,upstream_gene_variant,,ENST00000564865,;PKD1,intron_variant,,ENST00000483731,;PKD1,intron_variant,,ENST00000415938,;PKD1,intron_variant,,ENST00000568591,;PKD1,intron_variant,,ENST00000565639,;PKD1,intron_variant,,ENST00000569983,;PKD1,upstream_gene_variant,,ENST00000487932,;PKD1,upstream_gene_variant,,ENST00000486339,;PKD1,upstream_gene_variant,,ENST00000496574,;PKD1,downstream_gene_variant,,ENST00000469241,;PKD1,upstream_gene_variant,,ENST00000564890,;	A	ENST00000262304	Transcript	missense_variant	4636/14138	4427/12912	1476/4303	S/F	tCc/tTc	rs563980883	1		-1	PKD1	HGNC	HGNC:9008	protein_coding	YES	CCDS32369.1	ENSP00000262304	P98161		UPI00001B0454	NM_001009944.2	deleterious(0)		15/46		Gene3D:2.60.40.670,Pfam_domain:PF00801,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF143,SMART_domains:SM00089,TIGRFAM_domain:TIGR00864																	MODERATE	1	SNV	1			1										PASS		rs563980883	.												A	3	1	74	2110740	2110740	G	A	1	0	0	0	0	1	0	0	0	12059	1174	41	3		3	PKD1	16	2110740	Missense_Mutation	SNP	G	C3N-01405_TP	764070	2110740	88227605	354	24301											
ZNF423	0	.	GRCh38	chr16	49638133	49638133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggtggctgtccaggtggCagtagacaccttccactgag	7	8	14	12	1	0	2	0	1	0	1	2	2	2	2	4	4	0	3	4	4	1	2			C3N-01405_TP	C3N-01405_NB	C	C																c.1019G>C	p.Cys340Ser	p.C340S	ENST00000561648	5/9	445	332	113	441	441	0	strelka-varscan-mutect	ZNF423,missense_variant,p.Cys340Ser,ENST00000561648,;ZNF423,missense_variant,p.Cys280Ser,ENST00000563137,;ZNF423,missense_variant,p.Cys340Ser,ENST00000262383,NM_015069.3;ZNF423,missense_variant,p.Cys280Ser,ENST00000562871,;ZNF423,missense_variant,p.Cys223Ser,ENST00000535559,;ZNF423,missense_variant,p.Cys280Ser,ENST00000562520,NM_001271620.1;ZNF423,missense_variant,p.Cys223Ser,ENST00000567169,;	G	ENST00000561648	Transcript	missense_variant	1320/7907	1019/3855	340/1284	C/S	tGc/tCc	COSM971186,COSM971187	1		-1	ZNF423	HGNC	HGNC:16762	protein_coding	YES	CCDS32445.1	ENSP00000455426	Q2M1K9		UPI0000353ABC		tolerated(0.81)		5/9		PROSITE_patterns:PS00028,SMART_domains:SM00355											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												G	3	3	74	49638133	49638133	C	G	1	0	0	0	0	1	0	0	0	18470	710	25	4		4	ZNF423	16	49638133	Missense_Mutation	SNP	C	C3N-01405_TP	47527393	49638133	40700212	355	24302											
CETP	0	.	GRCh38	chr16	56969638	56969638	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgatcagtccattgacttCgagatcgactctgccattga	10	13	8	10	2	2	4	1	3	1	1	5	6	3	4	2	0	1	0	2	0	0	4			C3N-01405_TP	C3N-01405_NB	C	C																c.396C>T	p.=	p.F132F	ENST00000200676	4/16	609	537	72	543	543	0	strelka-varscan-mutect	CETP,synonymous_variant,p.=,ENST00000200676,NM_000078.2;CETP,synonymous_variant,p.=,ENST00000566128,;CETP,synonymous_variant,p.=,ENST00000379780,NM_001286085.1;CETP,non_coding_transcript_exon_variant,,ENST00000569082,;	T	ENST00000200676	Transcript	synonymous_variant	526/1791	396/1482	132/493	F	ttC/ttT	COSM5583382	1		1	CETP	HGNC	HGNC:1869	protein_coding	YES	CCDS10772.1	ENSP00000200676	P11597	A0A0S2Z3F6	UPI000013C62C	NM_000078.2			4/16		hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF12,Gene3D:1ewfA01,Pfam_domain:PF01273,PIRSF_domain:PIRSF037185,SMART_domains:SM00328,Superfamily_domains:SSF55394											1						LOW	1	SNV	1		1	1										PASS		rs879848326	.												T	2	4	74	56969638	56969638	C	T	1	0	0	0	0	0	0	0	1	3009	883	31	1		1	CETP	16	56969638	Silent	SNP	C	C3N-01405_TP	7331505	56969638	33368707	356	24303											
RP11-457D20.2	0	.	GRCh38	chr16	60358750	60358750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttttgcgggaactgtggCcggcagctctgggtggagaa	6	11	16	8	2	2	1	0	0	2	1	2	3	2	2	1	5	3	2	1	5	2	3	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.731G>T	p.Gly244Val	p.G244V	ENST00000614215	1/1	203	160	43	194	194	0	strelka-varscan-mutect	RP11-457D20.2,missense_variant,p.Gly244Val,ENST00000614215,NM_001282301.1;RP11-354I13.2,upstream_gene_variant,,ENST00000565506,;RP11-354I13.2,upstream_gene_variant,,ENST00000565133,;RP11-457D20.1,downstream_gene_variant,,ENST00000563482,;	A	ENST00000614215	Transcript	missense_variant	731/1026	731/1026	244/341	G/V	gGc/gTc		1		-1	RP11-457D20.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000482925	A8MU76		UPI00017616FE	NM_001282301.1	tolerated(0.26)		1/1		Pfam_domain:PF15229,hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF76																	MODERATE		SNV				1										PASS		rs1338865527	.												A	3	1	74	60358750	60358750	C	A	1	0	0	0	0	1	0	0	0	13744	739	26	2		2	RP11-457D20.2	16	60358750	Missense_Mutation	SNP	C	C3N-01405_TP	3389112	60358750	29979595	357	24304											
LCAT	0	.	GRCh38	chr16	67942530	67942530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaagacaggcttcccatagGcagcgtgcatctcctccacc	9	7	10	15	1	1	1	0	0	1	1	4	2	3	2	4	3	2	3	4	3	2	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.581C>T	p.Ala194Val	p.A194V	ENST00000264005	5/6	322	289	33	289	288	1	strelka-varscan-mutect	LCAT,missense_variant,p.Ala194Val,ENST00000264005,NM_000229.1;LCAT,missense_variant,p.Ala122Val,ENST00000570980,;LCAT,missense_variant,p.Ala17Val,ENST00000576450,;LCAT,intron_variant,,ENST00000570369,;SLC12A4,downstream_gene_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,downstream_gene_variant,,ENST00000422611,NM_001145962.1;SLC12A4,downstream_gene_variant,,ENST00000576616,;SLC12A4,downstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,downstream_gene_variant,,ENST00000572037,;SLC12A4,downstream_gene_variant,,ENST00000537830,NM_001145963.1;LCAT,upstream_gene_variant,,ENST00000570396,;LCAT,missense_variant,p.Ala75Val,ENST00000573538,;LCAT,3_prime_UTR_variant,,ENST00000575467,;LCAT,non_coding_transcript_exon_variant,,ENST00000575277,;LCAT,non_coding_transcript_exon_variant,,ENST00000573846,;SLC12A4,downstream_gene_variant,,ENST00000570802,;SLC12A4,downstream_gene_variant,,ENST00000573023,;SLC12A4,downstream_gene_variant,,ENST00000575857,;SLC12A4,downstream_gene_variant,,ENST00000570616,;	A	ENST00000264005	Transcript	missense_variant	611/1507	581/1323	194/440	A/V	gCc/gTc		1		-1	LCAT	HGNC	HGNC:6522	protein_coding	YES	CCDS10854.1	ENSP00000264005	P04180	A0A140VK24	UPI0000000DE7	NM_000229.1	tolerated(0.25)		5/6		Gene3D:3.40.50.1820,Pfam_domain:PF02450,hmmpanther:PTHR11440,hmmpanther:PTHR11440:SF18,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	67942530	67942530	G	A	1	0	0	0	0	1	0	0	0	8563	1203	42	3		3	LCAT	16	67942530	Missense_Mutation	SNP	G	C3N-01405_TP	7583780	67942530	22395815	358	24305											
GCSH	0	.	GRCh38	chr16	81096154	81096154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcagagcgggtccagtgCgcagcgtacggacggcgccc	8	3	17	13	6	0	2	0	0	0	2	1	3	1	3	2	3	5	3	2	3	1	1	rs76867061		C3N-01405_TP	C3N-01405_NB	C	C																c.125G>T	p.Arg42Leu	p.R42L	ENST00000315467	1/5	32	27	5	26	26	0	strelka-varscan	GCSH,missense_variant,p.Arg42Leu,ENST00000315467,NM_004483.4;GCSH,missense_variant,p.Arg30Leu,ENST00000569885,;GCSH,missense_variant,p.Arg42Leu,ENST00000566566,;PKD1L2,downstream_gene_variant,,ENST00000534142,;GCSH,missense_variant,p.Arg37Leu,ENST00000564386,;GCSH,missense_variant,p.Arg42Leu,ENST00000564477,;GCSH,synonymous_variant,p.=,ENST00000561801,;PKD1L2,downstream_gene_variant,,ENST00000534447,;PKD1L2,downstream_gene_variant,,ENST00000525539,NM_052892.3;PKD1L2,downstream_gene_variant,,ENST00000533478,NM_001278425.1;	A	ENST00000315467	Transcript	missense_variant	250/1552	125/522	42/173	R/L	cGc/cTc	rs76867061	1		-1	GCSH	HGNC	HGNC:4208	protein_coding	YES	CCDS10933.1	ENSP00000319531	P23434		UPI000013FAFB	NM_004483.4	tolerated(0.17)		1/5		hmmpanther:PTHR11715,hmmpanther:PTHR11715:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	81096154	81096154	C	A	1	0	0	0	0	1	0	0	0	6177	768	27	1		1	GCSH	16	81096154	Missense_Mutation	SNP	C	C3N-01405_TP	13153624	81096154	9242191	359	24306											
DHRS7C	0	.	GRCh38	chr17	9772777	9772777	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtctcacatttccaaatGgaagcttcccagtttccttg	10	13	7	11	0	1	0	1	0	1	0	5	2	4	1	3	1	1	2	3	1	3	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.720C>T	p.=	p.S240S	ENST00000330255	5/6	128	111	17	114	114	0	strelka-varscan-mutect	DHRS7C,synonymous_variant,p.=,ENST00000330255,NM_001220493.1;DHRS7C,synonymous_variant,p.=,ENST00000571134,NM_001105571.2;DHRS7C,intron_variant,,ENST00000571771,;RP11-477N12.6,intron_variant,,ENST00000634974,;	A	ENST00000330255	Transcript	synonymous_variant	733/1006	720/939	240/312	S	tcC/tcT		1		-1	DHRS7C	HGNC	HGNC:32423	protein_coding	YES	CCDS56020.1	ENSP00000327975	A6NNS2		UPI000178DECB	NM_001220493.1			5/6		Gene3D:3.40.50.720,Superfamily_domains:SSF51735																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	9772777	9772777	G	A	1	0	0	0	0	0	0	0	1	4301	1335	47	3		3	DHRS7C	17	9772777	Silent	SNP	G	C3N-01405_TP		9772777	73484664	360	24307											
FAM83G	0	.	GRCh38	chr17	18988397	18988397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgtcggtgaacatgtcCatgaccacagctatcacctg	10	9	8	14	2	1	2	1	2	0	0	4	2	3	2	4	1	2	1	4	1	2	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.540G>T	p.Met180Ile	p.M180I	ENST00000388995	3/6	116	86	30	79	79	0	strelka-varscan-mutect	FAM83G,missense_variant,p.Met180Ile,ENST00000388995,NM_001039999.2;FAM83G,missense_variant,p.Met180Ile,ENST00000345041,;SLC5A10,intron_variant,,ENST00000317977,NM_001282417.1;SLC5A10,intron_variant,,ENST00000395647,NM_152351.4;SLC5A10,intron_variant,,ENST00000395645,NM_001042450.2;SLC5A10,intron_variant,,ENST00000417251,NM_001270649.1;SLC5A10,intron_variant,,ENST00000395643,NM_001270648.1;FAM83G,non_coding_transcript_exon_variant,,ENST00000399096,;RP11-28B23.1,upstream_gene_variant,,ENST00000573133,;	A	ENST00000388995	Transcript	missense_variant	764/5266	540/2472	180/823	M/I	atG/atT		1		-1	FAM83G	HGNC	HGNC:32554	protein_coding	YES	CCDS42276.1	ENSP00000373647	A6ND36		UPI0000E03260	NM_001039999.2	deleterious(0)		3/6		hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF5,Pfam_domain:PF07894,Gene3D:3.30.870.10,Superfamily_domains:SSF56024																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	74	18988397	18988397	C	A	1	0	0	0	0	1	0	0	0	5497	594	21	2		2	FAM83G	17	18988397	Missense_Mutation	SNP	C	C3N-01405_TP	9215620	18988397	64269044	361	24308											
SLC47A2	0	.	GRCh38	chr17	19679992	19679992	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcccaggtctggttgcAgtgctctctgctctctgctg	3	13	12	13	0	4	0	1	0	3	0	6	0	4	0	1	3	4	5	1	3	0	1	rs772470758		C3N-01405_TP	C3N-01405_NB	A	A																c.1548T>A	p.=	p.T516T	ENST00000325411	16/17	121	102	19	121	121	0	strelka-varscan-mutect	SLC47A2,synonymous_variant,p.=,ENST00000350657,NM_001256663.1;SLC47A2,synonymous_variant,p.=,ENST00000325411,NM_001099646.1,NM_152908.3;ALDH3A2,downstream_gene_variant,,ENST00000176643,;ALDH3A2,downstream_gene_variant,,ENST00000339618,NM_001031806.1;ALDH3A2,downstream_gene_variant,,ENST00000631291,;ALDH3A2,downstream_gene_variant,,ENST00000395575,;ALDH3A2,downstream_gene_variant,,ENST00000579855,NM_000382.2;ALDH3A2,downstream_gene_variant,,ENST00000581518,;ALDH3A2,downstream_gene_variant,,ENST00000630662,;ALDH3A2,downstream_gene_variant,,ENST00000571163,;ALDH3A2,downstream_gene_variant,,ENST00000575384,;SLC47A2,non_coding_transcript_exon_variant,,ENST00000463318,;ALDH3A2,downstream_gene_variant,,ENST00000574597,;SLC47A2,3_prime_UTR_variant,,ENST00000574239,;SLC47A2,non_coding_transcript_exon_variant,,ENST00000467609,;ALDH3A2,downstream_gene_variant,,ENST00000472059,;ALDH3A2,downstream_gene_variant,,ENST00000573505,;ALDH3A2,downstream_gene_variant,,ENST00000582991,;ALDH3A2,downstream_gene_variant,,ENST00000476965,;ALDH3A2,downstream_gene_variant,,ENST00000573565,;ALDH3A2,downstream_gene_variant,,ENST00000573947,;	T	ENST00000325411	Transcript	synonymous_variant	1599/2258	1548/1809	516/602	T	acT/acA	rs772470758	1		-1	SLC47A2	HGNC	HGNC:26439	protein_coding	YES	CCDS11211.1	ENSP00000326671	Q86VL8		UPI0000190813	NM_001099646.1,NM_152908.3			16/17		hmmpanther:PTHR11206,hmmpanther:PTHR11206:SF81																	LOW	1	SNV	1			1										PASS		rs772470758	.												T	2	4	74	19679992	19679992	A	T	1	0	0	0	0	0	0	0	1	14925	175	7	4		4	SLC47A2	17	19679992	Silent	SNP	A	C3N-01405_TP	691595	19679992	63577449	362	24309											
NF1	0	.	GRCh38	chr17	31214524	31214524	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacctggagacaagaagctAtaagtatcttctcttgtcca	13	11	8	9	0	2	3	0	0	2	3	4	4	3	3	2	1	1	2	2	1	5	5	rs137854557		C3N-01405_TP	C3N-01405_NB	A	A																c.1466A>G	p.Tyr489Cys	p.Y489C	ENST00000358273	13/58	162	133	29	192	192	0	strelka-varscan-mutect	NF1,missense_variant,p.Tyr489Cys,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Tyr489Cys,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Tyr155Cys,ENST00000456735,;NF1,missense_variant,p.Tyr489Cys,ENST00000431387,NM_001128147.2;NF1,missense_variant,p.Tyr523Cys,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;	G	ENST00000358273	Transcript	missense_variant	1849/12425	1466/8520	489/2839	Y/C	tAt/tGt	rs137854557,CS992455,COSM1290665,COSM329089	1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2	tolerated(0.08)		13/58		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF90										pathogenic	0,0,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs137854557	.												G	3	3	74	31214524	31214524	A	G	1	0	0	0	0	1	0	0	0	10393	449	16	5		5	NF1	17	31214524	Missense_Mutation	SNP	A	C3N-01405_TP	11534532	31214524	52042917	363	24310											
GGNBP2	0	.	GRCh38	chr17	36586171	36586171	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataaaaagaagaagaagaaAagcaagatactgaaatgtga	25	5	9	2	0	0	7	0	2	0	5	0	7	0	7	0	0	2	1	0	0	12	2	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.1614A>T	p.Lys538Asn	p.K538N	ENST00000613102	12/14	146	120	26	104	104	0	strelka-varscan-mutect	GGNBP2,missense_variant,p.Lys538Asn,ENST00000613102,NM_024835.4;GGNBP2,missense_variant,p.Lys13Asn,ENST00000615952,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000612563,;GGNBP2,downstream_gene_variant,,ENST00000617860,;GGNBP2,downstream_gene_variant,,ENST00000618837,;GGNBP2,downstream_gene_variant,,ENST00000619573,;GGNBP2,upstream_gene_variant,,ENST00000620927,;	T	ENST00000613102	Transcript	missense_variant	1930/2847	1614/2094	538/697	K/N	aaA/aaT		1		1	GGNBP2	HGNC	HGNC:19357	protein_coding	YES	CCDS11314.1	ENSP00000478220	Q9H3C7		UPI00000728CB	NM_024835.4	tolerated_low_confidence(0.35)		12/14		Low_complexity_(Seg):seg,hmmpanther:PTHR13601																	MODERATE	1	SNV	1			1										PASS		rs1294064517	.												T	3	4	74	36586171	36586171	A	T	1	0	0	0	0	1	0	0	0	6235	11	1	4		4	GGNBP2	17	36586171	Missense_Mutation	SNP	A	C3N-01405_TP	5371647	36586171	46671270	364	24311											
HAP1	0	.	GRCh38	chr17	41724986	41724986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctctgcctcttccatcacCccttcctcagccggcacctt	5	11	5	20	1	4	0	2	0	2	0	6	0	6	0	7	1	3	2	7	1	0	3	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1575G>A	p.=	p.G525G	ENST00000347901	11/11	168	142	26	107	107	0	strelka-varscan-mutect	HAP1,synonymous_variant,p.=,ENST00000393939,NM_001079871.1;HAP1,synonymous_variant,p.=,ENST00000310778,;HAP1,synonymous_variant,p.=,ENST00000347901,NM_177977.2;HAP1,synonymous_variant,p.=,ENST00000341193,NM_001079870.1;HAP1,synonymous_variant,p.=,ENST00000458656,;HAP1,intron_variant,,ENST00000442364,;HAP1,intron_variant,,ENST00000455021,;	T	ENST00000347901	Transcript	synonymous_variant	1585/3931	1575/1860	525/619	G	ggG/ggA		1		-1	HAP1	HGNC	HGNC:4812	protein_coding	YES	CCDS11406.1	ENSP00000334002	P54257		UPI000024700D	NM_177977.2			11/11		hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF14																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	74	41724986	41724986	C	T	1	0	0	0	0	0	0	0	1	6839	610	22	3		3	HAP1	17	41724986	Silent	SNP	C	C3N-01405_TP	5138815	41724986	41532455	365	24312											
PLCD3	0	.	GRCh38	chr17	45121064	45121064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgcgctggcgcgaaggcaCccccgaagcgccgcaggccc	7	1	15	18	7	0	0	0	0	0	0	0	2	0	0	4	3	2	3	4	3	2	0	rs774017109		C3N-01405_TP	C3N-01405_NB	C	C																c.392G>T	p.Gly131Val	p.G131V	ENST00000619929	3/15	150	124	26	112	112	0	strelka-varscan-mutect	PLCD3,missense_variant,p.Gly131Val,ENST00000619929,NM_133373.4;PLCD3,missense_variant,p.Gly108Val,ENST00000590644,;PLCD3,missense_variant,p.Gly67Val,ENST00000538093,;PLCD3,upstream_gene_variant,,ENST00000611986,;PLCD3,downstream_gene_variant,,ENST00000544446,;PLCD3,upstream_gene_variant,,ENST00000538988,;PLCD3,upstream_gene_variant,,ENST00000546350,;PLCD3,upstream_gene_variant,,ENST00000542173,;	A	ENST00000619929	Transcript	missense_variant	480/6107	392/2370	131/789	G/V	gGt/gTt	rs774017109	1		-1	PLCD3	HGNC	HGNC:9061	protein_coding	YES	CCDS74077.1	ENSP00000479636	Q8N3E9		UPI0000070705	NM_133373.4	tolerated(0.14)		3/15		Gene3D:2.30.29.30,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF33,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		rs774017109	.												A	3	1	74	45121064	45121064	C	A	1	0	0	0	0	1	0	0	0	12126	507	18	2		2	PLCD3	17	45121064	Missense_Mutation	SNP	C	C3N-01405_TP	3396078	45121064	38136377	366	24313											
SPPL2C	0	.	GRCh38	chr17	45846107	45846107	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttcaccaaaaccggtGagagcatcatggcgcaggtt	10	9	10	12	2	3	1	2	1	1	1	3	2	3	1	3	3	2	3	3	3	2	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1201G>T	p.Glu401Ter	p.E401*	ENST00000329196	1/1	304	246	58	196	196	0	strelka-varscan-mutect	SPPL2C,stop_gained,p.Glu401Ter,ENST00000329196,NM_175882.2;MAPT-AS1,intron_variant,,ENST00000634876,;MAPT-AS1,intron_variant,,ENST00000579599,;MAPT-AS1,intron_variant,,ENST00000579244,;MAPT-AS1,upstream_gene_variant,,ENST00000581125,;	T	ENST00000329196	Transcript	stop_gained	1273/2238	1201/2055	401/684	E/*	Gag/Tag		1		1	SPPL2C	HGNC	HGNC:28902	protein_coding	YES	CCDS32673.1	ENSP00000332488	Q8IUH8		UPI0000EE80B4	NM_175882.2			1/1		Pfam_domain:PF04258,hmmpanther:PTHR12174,hmmpanther:PTHR12174:SF38,SMART_domains:SM00730																	HIGH		SNV				1										PASS		.	.												T	4	4	74	45846107	45846107	G	T	1	0	0	0	0	0	1	0	0	15443	1291	45	2		2	SPPL2C	17	45846107	Nonsense_Mutation	SNP	G	C3N-01405_TP	725043	45846107	37411334	367	24314											
SPOP	0	.	GRCh38	chr17	49621998	49621998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtagaacttttaatgacttCacccatttcctcccggcaaa	11	13	5	12	1	1	2	1	1	0	1	3	2	3	2	3	1	1	2	3	1	4	5			C3N-01405_TP	C3N-01405_NB	C	C																c.148G>A	p.Glu50Lys	p.E50K	ENST00000393328	4/11	275	194	81	236	236	0	strelka-varscan-mutect	SPOP,missense_variant,p.Glu50Lys,ENST00000393328,NM_003563.3,NM_001007226.1;SPOP,missense_variant,p.Glu50Lys,ENST00000347630,NM_001007227.1,NM_001007229.1,NM_001007230.1;SPOP,missense_variant,p.Glu50Lys,ENST00000503676,;SPOP,missense_variant,p.Glu50Lys,ENST00000504102,NM_001007228.1;SPOP,missense_variant,p.Glu50Lys,ENST00000509079,;SPOP,missense_variant,p.Glu50Lys,ENST00000505581,;SPOP,missense_variant,p.Glu50Lys,ENST00000507970,;SPOP,missense_variant,p.Glu50Lys,ENST00000514121,;SPOP,missense_variant,p.Glu50Lys,ENST00000510476,;SPOP,missense_variant,p.Glu50Lys,ENST00000515508,;SPOP,downstream_gene_variant,,ENST00000451526,;SPOP,downstream_gene_variant,,ENST00000508805,;SPOP,non_coding_transcript_exon_variant,,ENST00000513080,;SPOP,downstream_gene_variant,,ENST00000502385,;SPOP,3_prime_UTR_variant,,ENST00000506399,;SPOP,3_prime_UTR_variant,,ENST00000504212,;SPOP,upstream_gene_variant,,ENST00000509869,;SPOP,downstream_gene_variant,,ENST00000509765,;	T	ENST00000393328	Transcript	missense_variant	514/2985	148/1125	50/374	E/K	Gaa/Aaa	COSM980818	1		-1	SPOP	HGNC	HGNC:11254	protein_coding	YES	CCDS11551.1	ENSP00000377001	O43791		UPI0000003F5C	NM_003563.3,NM_001007226.1	tolerated(0.06)		4/11		Gene3D:2.60.210.10,PROSITE_profiles:PS50144,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF97,SMART_domains:SM00061,Superfamily_domains:SSF49599											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	74	49621998	49621998	C	T	1	0	0	0	0	1	0	0	0	15437	835	29	3		3	SPOP	17	49621998	Missense_Mutation	SNP	C	C3N-01405_TP	3775891	49621998	33635443	368	24315											
CACNA1G	0	.	GRCh38	chr17	50575687	50575687	+	Frame_Shift_Del	DEL	C	C	-																															ccctggctagcttctctgagCccggcagctgctatgaggag																								novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1287delC	p.Gly430AlafsTer134	p.G430Afs*134	ENST00000359106	8/38	501	391	110	377	377	0	sindel-varindel-pindel	CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000354983,NM_198396.2;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000352832,NM_198387.2;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000359106,NM_018896.4;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000360761,NM_198382.2;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000442258,NM_198388.2;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000429973,NM_198386.2;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000507336,NM_198377.2;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000358244,NM_198376.2;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000507510,NM_198385.2;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000515765,NM_198380.2;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000515411,NM_001256324.1;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000502264,NM_198383.2;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000510115,NM_198379.2;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000514079,NM_001256325.1;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000513689,NM_001256326.1;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000515165,NM_198384.2;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000507609,NM_001256327.1;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000512389,NM_198378.2;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000514181,NM_001256328.1;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000513964,NM_001256360.1,NM_001256361.1,NM_001256330.1;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000510366,NM_001256331.1;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000514717,NM_001256332.1;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000505165,NM_001256333.1;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000507896,NM_001256334.1;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000416767,;CACNA1G,downstream_gene_variant,,ENST00000570567,;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000506406,;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000504076,;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000511765,;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000503436,;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000511768,;CACNA1G,frameshift_variant,p.Gly430AlafsTer134,ENST00000503607,;	-	ENST00000359106	Transcript	frameshift_variant	1285/7648	1285/7134	429/2377	P/X	Ccc/cc		1		1	CACNA1G	HGNC	HGNC:1394	protein_coding	YES	CCDS45730.1	ENSP00000352011	O43497		UPI000012727A	NM_018896.4			8/38		Prints_domain:PR01629,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	74	50575687	50575687	C	-	1	0	1	0	1	0	0	0	0	2232	739	26	0		0	CACNA1G	17	50575687	Frame_Shift_Del	DEL	C	C3N-01405_TP	953689	50575687	32681754	369	24316											
CACNA1G	0	.	GRCh38	chr17	50626407	50626407	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctacgtcctggctggatGagcagaggagacactctatc	9	8	13	11	1	1	3	0	1	1	2	3	5	2	4	2	4	2	2	2	4	2	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.6790G>T	p.Glu2264Ter	p.E2264*	ENST00000359106	38/38	110	95	15	67	67	0	strelka-mutect	CACNA1G,stop_gained,p.Glu2230Ter,ENST00000354983,NM_198396.2;CACNA1G,stop_gained,p.Glu2137Ter,ENST00000352832,NM_198387.2;CACNA1G,stop_gained,p.Glu2264Ter,ENST00000359106,NM_018896.4;CACNA1G,stop_gained,p.Glu2148Ter,ENST00000360761,NM_198382.2;CACNA1G,stop_gained,p.Glu2130Ter,ENST00000442258,NM_198388.2;CACNA1G,stop_gained,p.Glu2153Ter,ENST00000429973,NM_198386.2;CACNA1G,stop_gained,p.Glu2253Ter,ENST00000507336,NM_198377.2;CACNA1G,stop_gained,p.Glu2058Ter,ENST00000358244,NM_198376.2;CACNA1G,stop_gained,p.Glu2219Ter,ENST00000507510,NM_198385.2;CACNA1G,stop_gained,p.Glu2208Ter,ENST00000515765,NM_198380.2;CACNA1G,stop_gained,p.Glu2201Ter,ENST00000515411,NM_001256324.1;CACNA1G,stop_gained,p.Glu2193Ter,ENST00000502264,NM_198383.2;CACNA1G,stop_gained,p.Glu2185Ter,ENST00000510115,NM_198379.2;CACNA1G,stop_gained,p.Glu2178Ter,ENST00000514079,NM_001256325.1;CACNA1G,stop_gained,p.Glu2174Ter,ENST00000513689,NM_001256326.1;CACNA1G,stop_gained,p.Glu2171Ter,ENST00000515165,NM_198384.2;CACNA1G,stop_gained,p.Glu2164Ter,ENST00000507609,NM_001256327.1;CACNA1G,stop_gained,p.Glu2160Ter,ENST00000512389,NM_198378.2;CACNA1G,stop_gained,p.Glu2146Ter,ENST00000514181,NM_001256328.1;CACNA1G,stop_gained,p.Glu2137Ter,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,stop_gained,p.Glu2126Ter,ENST00000513964,NM_001256360.1,NM_001256361.1,NM_001256330.1;CACNA1G,stop_gained,p.Glu2119Ter,ENST00000510366,NM_001256331.1;CACNA1G,stop_gained,p.Glu2114Ter,ENST00000514717,NM_001256332.1;CACNA1G,stop_gained,p.Glu2092Ter,ENST00000505165,NM_001256333.1;CACNA1G,stop_gained,p.Glu2081Ter,ENST00000507896,NM_001256334.1;CTB-22K21.2,downstream_gene_variant,,ENST00000502435,;CACNA1G,3_prime_UTR_variant,,ENST00000506406,;CACNA1G,3_prime_UTR_variant,,ENST00000504076,;CACNA1G,3_prime_UTR_variant,,ENST00000511765,;CACNA1G,3_prime_UTR_variant,,ENST00000503436,;CACNA1G,3_prime_UTR_variant,,ENST00000511768,;CACNA1G,3_prime_UTR_variant,,ENST00000503607,;	T	ENST00000359106	Transcript	stop_gained	6790/7648	6790/7134	2264/2377	E/*	Gag/Tag		1		1	CACNA1G	HGNC	HGNC:1394	protein_coding	YES	CCDS45730.1	ENSP00000352011	O43497		UPI000012727A	NM_018896.4			38/38		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	74	50626407	50626407	G	T	1	0	0	0	0	0	1	0	0	2232	1291	45	2		2	CACNA1G	17	50626407	Nonsense_Mutation	SNP	G	C3N-01405_TP	50720	50626407	32631034	370	24317											
TSPOAP1	0	.	GRCh38	chr17	58310111	58310111	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagttgcggccgtggtcCacgagggagttcaccagatg	7	9	15	10	3	2	2	1	1	1	1	3	4	3	3	3	3	1	2	3	3	0	2			C3N-01405_TP	C3N-01405_NB	C	C																c.3747G>T	p.=	p.V1249V	ENST00000343736	21/32	176	131	45	118	118	0	strelka-varscan-mutect	TSPOAP1,synonymous_variant,p.=,ENST00000268893,NM_024418.2;TSPOAP1,synonymous_variant,p.=,ENST00000343736,NM_001261835.1,NM_004758.3;TSPOAP1,synonymous_variant,p.=,ENST00000582679,;TSPOAP1,upstream_gene_variant,,ENST00000581675,;TSPOAP1,upstream_gene_variant,,ENST00000580669,;TSPOAP1,upstream_gene_variant,,ENST00000581692,;TSPOAP1,upstream_gene_variant,,ENST00000578511,;TSPOAP1,upstream_gene_variant,,ENST00000577871,;TSPOAP1,upstream_gene_variant,,ENST00000578486,;TSPOAP1,downstream_gene_variant,,ENST00000585149,;	A	ENST00000343736	Transcript	synonymous_variant	3911/5947	3747/5574	1249/1857	V	gtG/gtT	COSM4545277,COSM4545278	1		-1	TSPOAP1	HGNC	HGNC:16831	protein_coding	YES	CCDS11605.1	ENSP00000345824	O95153		UPI000013D7E3	NM_001261835.1,NM_004758.3			21/32		hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF20											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	74	58310111	58310111	C	A	1	0	0	0	0	0	0	0	1	17163	581	21	2		2	TSPOAP1	17	58310111	Silent	SNP	C	C3N-01405_TP	7683704	58310111	24947330	371	24318											
TEX14	0	.	GRCh38	chr17	58586038	58586038	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgccaaggaggtactgTgagctgtccagtagctgctt	9	10	14	8	0	0	1	0	1	0	0	1	3	1	3	2	3	5	5	2	3	3	3	rs750735439		C3N-01405_TP	C3N-01405_NB	T	T																c.2851A>T	p.Thr951Ser	p.T951S	ENST00000240361	18/33	179	143	36	113	113	0	strelka-varscan-mutect	TEX14,missense_variant,p.Thr945Ser,ENST00000389934,NM_198393.3;TEX14,missense_variant,p.Thr951Ser,ENST00000240361,NM_001201457.1;TEX14,missense_variant,p.Thr945Ser,ENST00000349033,NM_031272.4;TEX14,3_prime_UTR_variant,,ENST00000582740,;	A	ENST00000240361	Transcript	missense_variant	2937/4911	2851/4494	951/1497	T/S	Aca/Tca	rs750735439	1		-1	TEX14	HGNC	HGNC:11737	protein_coding	YES	CCDS56042.1	ENSP00000240361	Q8IWB6		UPI0000DAC9CA	NM_001201457.1	tolerated(0.67)		18/33		hmmpanther:PTHR23060																	MODERATE	1	SNV	1			1										PASS		rs750735439	.												A	3	1	74	58586038	58586038	T	A	1	0	0	0	0	1	0	0	0	16200	1696	59	4		4	TEX14	17	58586038	Missense_Mutation	SNP	T	C3N-01405_TP	275927	58586038	24671403	372	24319											
NOL11	0	.	GRCh38	chr17	67719722	67719722	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcagtgaaacaaggtcaaAttataacatgtccagctgtg	14	10	10	7	0	2	1	2	1	0	0	3	1	3	1	1	2	3	1	1	2	5	2	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.190A>T	p.Ile64Phe	p.I64F	ENST00000253247	2/18	222	195	27	176	176	0	strelka-mutect	NOL11,missense_variant,p.Ile64Phe,ENST00000253247,NM_015462.4,NM_001303272.1;NOL11,missense_variant,p.Ile83Phe,ENST00000581106,;NOL11,upstream_gene_variant,,ENST00000580833,;NOL11,non_coding_transcript_exon_variant,,ENST00000581966,;NOL11,missense_variant,p.Ile64Phe,ENST00000581375,;NOL11,non_coding_transcript_exon_variant,,ENST00000584942,;NOL11,upstream_gene_variant,,ENST00000580914,;	T	ENST00000253247	Transcript	missense_variant	305/2947	190/2160	64/719	I/F	Att/Ttt		1		1	NOL11	HGNC	HGNC:24557	protein_coding	YES	CCDS11671.1	ENSP00000253247	Q9H8H0		UPI0000072B83	NM_015462.4,NM_001303272.1	tolerated(0.06)		2/18		hmmpanther:PTHR15633,hmmpanther:PTHR15633:SF2,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	67719722	67719722	A	T	1	0	0	0	0	1	0	0	0	10564	101	4	4		4	NOL11	17	67719722	Missense_Mutation	SNP	A	C3N-01405_TP	9133684	67719722	15537719	373	24320											
USH1G	0	.	GRCh38	chr17	74919597	74919597	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatcaaagcctcgaggtcGatcttctcctgccgcaggag	9	8	11	13	3	3	0	1	0	2	0	6	3	3	1	3	2	3	2	3	2	1	1	rs766986350		C3N-01405_TP	C3N-01405_NB	G	G																c.1239C>A	p.=	p.I413I	ENST00000614341	2/3	492	405	87	304	304	0	strelka-varscan-mutect	USH1G,synonymous_variant,p.=,ENST00000614341,NM_001282489.2,NM_173477.4;OTOP2,upstream_gene_variant,,ENST00000331427,NM_178160.2;USH1G,3_prime_UTR_variant,,ENST00000579243,;OTOP2,upstream_gene_variant,,ENST00000584711,;	T	ENST00000614341	Transcript	synonymous_variant	1422/3558	1239/1386	413/461	I	atC/atA	rs766986350	1		-1	USH1G	HGNC	HGNC:16356	protein_coding	YES	CCDS32725.1	ENSP00000480279	Q495M9		UPI00001BC010	NM_001282489.2,NM_173477.4			2/3		hmmpanther:PTHR24161:SF24,hmmpanther:PTHR24161,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,Superfamily_domains:SSF47769																	LOW	1	SNV	1			1										PASS		rs766986350	.												T	2	4	74	74919597	74919597	G	T	1	0	0	0	0	0	0	0	1	17569	1048	37	1		1	USH1G	17	74919597	Silent	SNP	G	C3N-01405_TP	7199875	74919597	8337844	374	24321											
MYADML2	0	.	GRCh38	chr17	81941146	81941146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagcacaggctgtagacgGccacgcaccactgggtggcc	9	4	15	13	2	0	1	0	0	0	1	0	2	0	2	3	5	1	4	3	5	2	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.596C>A	p.Ala199Asp	p.A199D	ENST00000409745	3/3	265	199	66	161	161	0	strelka-varscan-mutect	MYADML2,missense_variant,p.Ala199Asp,ENST00000409745,NM_001145113.2;PYCR1,intron_variant,,ENST00000582198,;PYCR1,upstream_gene_variant,,ENST00000619204,NM_001282280.1;PYCR1,upstream_gene_variant,,ENST00000337943,NM_153824.2;PYCR1,upstream_gene_variant,,ENST00000329875,NM_006907.3;PYCR1,upstream_gene_variant,,ENST00000403172,NM_001282279.1;PYCR1,upstream_gene_variant,,ENST00000629768,;PYCR1,upstream_gene_variant,,ENST00000402252,NM_001282281.1;PYCR1,upstream_gene_variant,,ENST00000577756,;PYCR1,upstream_gene_variant,,ENST00000584848,;PYCR1,upstream_gene_variant,,ENST00000405481,;PYCR1,upstream_gene_variant,,ENST00000585215,;PYCR1,upstream_gene_variant,,ENST00000579366,;PYCR1,upstream_gene_variant,,ENST00000585244,;PYCR1,upstream_gene_variant,,ENST00000579698,;PYCR1,upstream_gene_variant,,ENST00000581271,;PYCR1,upstream_gene_variant,,ENST00000577624,;PYCR1,upstream_gene_variant,,ENST00000583564,;AC137723.5,upstream_gene_variant,,ENST00000415556,;	T	ENST00000409745	Transcript	missense_variant	951/2452	596/924	199/307	A/D	gCc/gAc		1		-1	MYADML2	HGNC	HGNC:34548	protein_coding	YES	CCDS45815.1	ENSP00000386702	A6NDP7		UPI0000EE5F22	NM_001145113.2	deleterious(0)		3/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS51225,hmmpanther:PTHR17068:SF5,hmmpanther:PTHR17068,Pfam_domain:PF01284																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	81941146	81941146	G	T	1	0	0	0	0	1	0	0	0	10006	1203	42	2		2	MYADML2	17	81941146	Missense_Mutation	SNP	G	C3N-01405_TP	7021549	81941146	1316295	375	24322											
TMEM200C	0	.	GRCh38	chr18	5891985	5891985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcttggctttccgcttgcGcttgggtatctggcttgggg	1	16	14	10	2	2	0	0	0	2	0	3	0	3	0	1	5	1	5	1	5	1	7	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.79C>G	p.Arg27Gly	p.R27G	ENST00000581347	3/3	227	171	56	238	238	0	strelka-varscan-mutect	TMEM200C,missense_variant,p.Arg27Gly,ENST00000581347,;TMEM200C,missense_variant,p.Arg27Gly,ENST00000383490,NM_001080209.1;RP11-945C19.4,intron_variant,,ENST00000577694,;RP11-945C19.4,downstream_gene_variant,,ENST00000582939,;RP11-945C19.4,downstream_gene_variant,,ENST00000580845,;	C	ENST00000581347	Transcript	missense_variant	725/10638	79/1866	27/621	R/G	Cgc/Ggc		1		-1	TMEM200C	HGNC	HGNC:37208	protein_coding	YES	CCDS45825.1	ENSP00000463375	A6NKL6		UPI000020198E		deleterious(0)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR31815,hmmpanther:PTHR31815:SF2,Pfam_domain:PF10177																	MODERATE		SNV	5			1										PASS		rs1287027998	.												C	3	2	74	5891985	5891985	G	C	1	0	0	0	0	1	0	0	0	16564	1087	38	4		4	TMEM200C	18	5891985	Missense_Mutation	SNP	G	C3N-01405_TP		5891985	74481300	376	24323											
TMEM241	0	.	GRCh38	chr18	23352274	23352274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtactgaacatgagaaaGaatcccaaaaatccactgga	18	7	7	9	0	0	3	0	2	0	2	2	5	2	4	2	1	2	1	2	1	6	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.687C>G	p.Phe229Leu	p.F229L	ENST00000383233	13/15	137	120	17	116	116	0	strelka-varscan-mutect	TMEM241,missense_variant,p.Phe229Leu,ENST00000383233,NM_032933.4;TMEM241,missense_variant,p.Phe190Leu,ENST00000578520,;TMEM241,3_prime_UTR_variant,,ENST00000542162,;TMEM241,3_prime_UTR_variant,,ENST00000473688,;TMEM241,3_prime_UTR_variant,,ENST00000477053,;TMEM241,3_prime_UTR_variant,,ENST00000581444,;TMEM241,3_prime_UTR_variant,,ENST00000460322,;TMEM241,non_coding_transcript_exon_variant,,ENST00000583048,;TMEM241,downstream_gene_variant,,ENST00000497608,;TMEM241,downstream_gene_variant,,ENST00000482411,;TMEM241,downstream_gene_variant,,ENST00000577531,;	C	ENST00000383233	Transcript	missense_variant	740/2934	687/891	229/296	F/L	ttC/ttG		1		-1	TMEM241	HGNC	HGNC:31723	protein_coding	YES	CCDS11876.2	ENSP00000372720	Q24JQ0		UPI000022A6E0	NM_032933.4	deleterious(0.01)		13/15		Transmembrane_helices:TMhelix,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF111																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	74	23352274	23352274	G	C	1	0	0	0	0	1	0	0	0	16601	933	33	4		4	TMEM241	18	23352274	Missense_Mutation	SNP	G	C3N-01405_TP	17460289	23352274	57021011	377	24324											
LAMA3	0	.	GRCh38	chr18	23847576	23847576	+	Frame_Shift_Del	DEL	C	C	-																															acacactcattcagcttccaCcccatggccggctgcgaagg																								novel		C3N-01405_TP	C3N-01405_NB	C	C																c.4047delC	p.Met1350TrpfsTer81	p.M1350Wfs*81	ENST00000313654	32/75	478	427	51	402	402	0	sindel-varindel-pindel	LAMA3,frameshift_variant,p.Met1350TrpfsTer81,ENST00000313654,NM_198129.2;LAMA3,frameshift_variant,p.Met1350TrpfsTer81,ENST00000399516,NM_001127717.2;	-	ENST00000313654	Transcript	frameshift_variant	4285/10661	4044/10002	1348/3333	H/X	caC/ca		1		1	LAMA3	HGNC	HGNC:6483	protein_coding	YES	CCDS42419.1	ENSP00000324532	Q16787		UPI000035154D	NM_198129.2			32/75		Gene3D:2.10.25.10,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF285,SMART_domains:SM00180																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	74	23847576	23847576	C	-	1	0	1	0	1	0	0	0	0	8511	506	18	0		0	LAMA3	18	23847576	Frame_Shift_Del	DEL	C	C3N-01405_TP	495302	23847576	56525709	378	24325											
ZNF521	0	.	GRCh38	chr18	25225314	25225314	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcccatcgtgactgttgtgGgactcctggctgttggtcag	4	13	13	11	1	1	1	1	1	0	0	4	2	3	2	2	3	0	3	2	3	0	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.2604C>A	p.=	p.S868S	ENST00000361524	4/8	403	352	51	294	294	0	strelka-varscan-mutect	ZNF521,synonymous_variant,p.=,ENST00000361524,NM_015461.2;ZNF521,synonymous_variant,p.=,ENST00000584787,NM_001308225.1;ZNF521,synonymous_variant,p.=,ENST00000538137,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,synonymous_variant,p.=,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	T	ENST00000361524	Transcript	synonymous_variant	2753/4871	2604/3936	868/1311	S	tcC/tcA		1		-1	ZNF521	HGNC	HGNC:24605	protein_coding	YES	CCDS32806.1	ENSP00000354794	Q96K83		UPI000006F982	NM_015461.2			4/8		hmmpanther:PTHR24402:SF222,hmmpanther:PTHR24402																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	74	25225314	25225314	G	T	1	0	0	0	0	0	0	0	1	18537	1219	43	2		2	ZNF521	18	25225314	Silent	SNP	G	C3N-01405_TP	1377738	25225314	55147971	379	24326											
ASXL3	0	.	GRCh38	chr18	33738690	33738690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctatggtagaaattcCacctaaagatataatggcag	14	11	8	8	0	0	2	0	0	0	2	1	2	1	2	3	2	1	2	3	2	7	7	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1286C>A	p.Pro429Gln	p.P429Q	ENST00000269197	11/12	164	138	26	137	137	0	strelka-varscan-mutect	ASXL3,missense_variant,p.Pro429Gln,ENST00000269197,NM_030632.1;ASXL3,3_prime_UTR_variant,,ENST00000592288,;	A	ENST00000269197	Transcript	missense_variant	1341/11399	1286/6747	429/2248	P/Q	cCa/cAa		1		1	ASXL3	HGNC	HGNC:29357	protein_coding	YES	CCDS45847.1	ENSP00000269197	Q9C0F0		UPI000156D0F3	NM_030632.1	deleterious_low_confidence(0)		11/12		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	74	33738690	33738690	C	A	1	0	0	0	0	1	0	0	0	1216	594	21	2		2	ASXL3	18	33738690	Missense_Mutation	SNP	C	C3N-01405_TP	8513376	33738690	46634595	380	24327											
ELP2	0	.	GRCh38	chr18	36171063	36171076	+	Frame_Shift_Del	DEL	GGATTGGAGTGTGG	GGATTGGAGTGTGG	-																															acagatacgtggttgcagtaGgattggagtgtggaaagatt																								novel		C3N-01405_TP	C3N-01405_NB	GGATTGGAGTGTGG	GGATTGGAGTGTGG																c.2422_2435delGGATTGGAGTGTGG	p.Gly808LysfsTer11	p.G808Kfs*11	ENST00000442325	22/23	405	359	46	434	434	0	sindel-varindel-pindel	ELP2,frameshift_variant,p.Gly743LysfsTer11,ENST00000358232,NM_018255.2;ELP2,frameshift_variant,p.Gly808LysfsTer11,ENST00000442325,NM_001242875.1;ELP2,frameshift_variant,p.Gly738LysfsTer11,ENST00000350494,NM_001242876.1;ELP2,frameshift_variant,p.Gly717LysfsTer11,ENST00000351393,NM_001242877.1;ELP2,frameshift_variant,p.Gly673LysfsTer11,ENST00000423854,NM_001242879.1;ELP2,frameshift_variant,p.Gly673LysfsTer11,ENST00000542824,NM_001242878.1;ELP2,non_coding_transcript_exon_variant,,ENST00000545302,;ELP2,3_prime_UTR_variant,,ENST00000539560,;ELP2,3_prime_UTR_variant,,ENST00000540766,;ELP2,non_coding_transcript_exon_variant,,ENST00000541748,;ELP2,non_coding_transcript_exon_variant,,ENST00000536830,;ELP2,non_coding_transcript_exon_variant,,ENST00000544274,;	-	ENST00000442325	Transcript	frameshift_variant	2458-2471/2722	2422-2435/2676	808-812/891	GLECG/X	GGATTGGAGTGTGGa/a		1		1	ELP2	HGNC	HGNC:18248	protein_coding	YES	CCDS56065.1	ENSP00000414851	Q6IA86		UPI0000E03DE9	NM_001242875.1			22/23		hmmpanther:PTHR22847:SF471,hmmpanther:PTHR22847,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	74	36171063	36171063	GGATTGGAGTGTGG	-	1	0	1	0	1	0	0	0	0	4914	1001	35	0		0	ELP2	18	36171063	Frame_Shift_Del	DEL	GGATTGGAGTGTGG	C3N-01405_TP	2432373	36171063	44202222	381	24328											
SYT4	0	.	GRCh38	chr18	43271765	43271765	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgagcttttaagacaaccAcagttagagtgtttgtggtg	10	13	12	6	1	0	2	0	0	0	2	1	3	0	2	1	1	2	3	1	1	3	4	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.917T>C	p.Val306Ala	p.V306A	ENST00000255224	3/4	200	174	26	207	207	0	strelka-varscan-mutect	SYT4,missense_variant,p.Val306Ala,ENST00000255224,NM_020783.3;SYT4,missense_variant,p.Val288Ala,ENST00000590752,;SYT4,missense_variant,p.Val36Ala,ENST00000596867,;SYT4,missense_variant,p.Val133Ala,ENST00000593720,;SYT4,non_coding_transcript_exon_variant,,ENST00000585604,;SYT4,non_coding_transcript_exon_variant,,ENST00000589479,;SYT4,intron_variant,,ENST00000586678,;SYT4,downstream_gene_variant,,ENST00000591820,;	G	ENST00000255224	Transcript	missense_variant	1286/4110	917/1278	306/425	V/A	gTg/gCg		1		-1	SYT4	HGNC	HGNC:11512	protein_coding	YES	CCDS11922.1	ENSP00000255224	Q9H2B2		UPI000013669E	NM_020783.3	deleterious(0.02)		3/4		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF114,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	43271765	43271765	A	G	1	0	0	0	0	1	0	0	0	15870	159	6	5		5	SYT4	18	43271765	Missense_Mutation	SNP	A	C3N-01405_TP	7100702	43271765	37101520	382	24329											
TCF4	0	.	GRCh38	chr18	55279580	55279580	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaggagctagggaaagtgCtggttgctggtttggaggaa	11	9	18	3	0	0	1	0	0	0	1	0	5	0	5	0	6	3	5	0	6	4	3	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.932G>C	p.Ser311Thr	p.S311T	ENST00000398339	10/21	410	364	46	380	380	0	strelka-varscan-mutect	TCF4,missense_variant,p.Ser185Thr,ENST00000636400,;TCF4,missense_variant,p.Ser209Thr,ENST00000356073,NM_003199.2;TCF4,missense_variant,p.Ser125Thr,ENST00000616053,;TCF4,missense_variant,p.Ser209Thr,ENST00000635822,;TCF4,missense_variant,p.Ser209Thr,ENST00000638154,;TCF4,missense_variant,p.Ser79Thr,ENST00000636822,;TCF4,missense_variant,p.Ser209Thr,ENST00000629387,;TCF4,missense_variant,p.Ser209Thr,ENST00000564999,;TCF4,missense_variant,p.Ser209Thr,ENST00000354452,NM_001083962.1;TCF4,missense_variant,p.Ser49Thr,ENST00000570287,NM_001243235.1;TCF4,missense_variant,p.Ser185Thr,ENST00000537578,NM_001243227.1;TCF4,missense_variant,p.Ser215Thr,ENST00000564403,NM_001243228.1;TCF4,missense_variant,p.Ser184Thr,ENST00000568740,;TCF4,missense_variant,p.Ser185Thr,ENST00000540999,NM_001306207.1;TCF4,missense_variant,p.Ser311Thr,ENST00000398339,NM_001243226.2;TCF4,missense_variant,p.Ser167Thr,ENST00000543082,NM_001243231.1;TCF4,missense_variant,p.Ser185Thr,ENST00000568673,;TCF4,missense_variant,p.Ser49Thr,ENST00000457482,NM_001243234.1;TCF4,missense_variant,p.Ser125Thr,ENST00000565018,;TCF4,missense_variant,p.Ser138Thr,ENST00000544241,NM_001243232.1;TCF4,missense_variant,p.Ser79Thr,ENST00000561992,NM_001243233.1;TCF4,missense_variant,p.Ser149Thr,ENST00000566279,;TCF4,missense_variant,p.Ser207Thr,ENST00000566286,NM_001243230.1;TCF4,missense_variant,p.Ser79Thr,ENST00000537856,;TCF4,missense_variant,p.Ser149Thr,ENST00000567880,;TCF4,missense_variant,p.Ser138Thr,ENST00000564228,NM_001306208.1;TCF4,missense_variant,p.Ser79Thr,ENST00000570177,;TCF4,missense_variant,p.Ser49Thr,ENST00000561831,NM_001243236.1;TCF4,missense_variant,p.Ser49Thr,ENST00000630720,;TCF4,missense_variant,p.Ser79Thr,ENST00000628078,;TCF4,missense_variant,p.Ser79Thr,ENST00000562030,;TCF4,missense_variant,p.Ser196Thr,ENST00000566514,;TCF4,missense_variant,p.Ser185Thr,ENST00000627685,;TCF4,missense_variant,p.Ser213Thr,ENST00000568169,;TCF4,missense_variant,p.Ser209Thr,ENST00000626595,;TCF4,missense_variant,p.Ser79Thr,ENST00000630712,;TCF4,missense_variant,p.Ser79Thr,ENST00000628636,;TCF4,missense_variant,p.Ser79Thr,ENST00000629343,;TCF4,missense_variant,p.Ser185Thr,ENST00000565908,;TCF4,missense_variant,p.Ser79Thr,ENST00000625849,;TCF4,missense_variant,p.Ser132Thr,ENST00000630319,;TCF4,missense_variant,p.Ser139Thr,ENST00000630828,;TCF4,missense_variant,p.Ser79Thr,ENST00000566777,;TCF4,missense_variant,p.Ser79Thr,ENST00000630268,;TCF4,missense_variant,p.Ser79Thr,ENST00000625925,;TCF4,missense_variant,p.Ser79Thr,ENST00000562607,;TCF4,missense_variant,p.Ser79Thr,ENST00000568186,;TCF4,missense_variant,p.Ser79Thr,ENST00000569012,;TCF4,missense_variant,p.Ser79Thr,ENST00000562638,;TCF4,5_prime_UTR_variant,,ENST00000637169,;TCF4,5_prime_UTR_variant,,ENST00000626584,;TCF4,upstream_gene_variant,,ENST00000570146,;TCF4,downstream_gene_variant,,ENST00000626425,;TCF4,non_coding_transcript_exon_variant,,ENST00000637239,;TCF4,non_coding_transcript_exon_variant,,ENST00000637250,;TCF4,non_coding_transcript_exon_variant,,ENST00000635990,;TCF4,non_coding_transcript_exon_variant,,ENST00000563760,;TCF4,non_coding_transcript_exon_variant,,ENST00000565580,;TCF4,non_coding_transcript_exon_variant,,ENST00000631043,;TCF4,non_coding_transcript_exon_variant,,ENST00000637068,;TCF4,intron_variant,,ENST00000627136,;TCF4,missense_variant,p.Ala76Pro,ENST00000637923,;TCF4,missense_variant,p.Ser49Thr,ENST00000628689,;TCF4,3_prime_UTR_variant,,ENST00000636751,;TCF4,3_prime_UTR_variant,,ENST00000637115,;TCF4,non_coding_transcript_exon_variant,,ENST00000563686,;TCF4,non_coding_transcript_exon_variant,,ENST00000562680,;	G	ENST00000398339	Transcript	missense_variant	1062/2551	932/2322	311/773	S/T	aGc/aCc		1		-1	TCF4	HGNC	HGNC:11634	protein_coding	YES	CCDS58631.1	ENSP00000381382		E9PH57	UPI0000EE5B9B	NM_001243226.2	tolerated(0.15)		10/21		hmmpanther:PTHR11793:SF10,hmmpanther:PTHR11793																	MODERATE	1	SNV	1			1										PASS		rs1450223406	.												G	3	3	74	55279580	55279580	C	G	1	0	0	0	0	1	0	0	0	16102	797	28	4		4	TCF4	18	55279580	Missense_Mutation	SNP	C	C3N-01405_TP	12007815	55279580	25093705	383	24330											
MALT1	0	.	GRCh38	chr18	58741883	58741883	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatatgggtaagtgtcaccTtaccaaaggcaaacaggctc	14	8	10	9	0	1	1	1	0	0	1	2	1	1	1	2	3	2	3	2	3	5	3	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.1622T>C	p.Leu541Pro	p.L541P	ENST00000348428	14/17	44	39	5	33	33	0	strelka-mutect	MALT1,missense_variant,p.Leu541Pro,ENST00000348428,NM_006785.3;MALT1,missense_variant,p.Leu530Pro,ENST00000345724,NM_173844.2;RP11-126O1.4,intron_variant,,ENST00000588835,;MALT1,non_coding_transcript_exon_variant,,ENST00000589873,;MALT1,non_coding_transcript_exon_variant,,ENST00000587438,;	C	ENST00000348428	Transcript	missense_variant	1880/9368	1622/2475	541/824	L/P	cTt/cCt		1		1	MALT1	HGNC	HGNC:6819	protein_coding	YES	CCDS11967.1	ENSP00000319279	Q9UDY8		UPI000004D05E	NM_006785.3	tolerated(0.09)		14/17		Pfam_domain:PF00656,hmmpanther:PTHR22576,hmmpanther:PTHR22576:SF29,Superfamily_domains:SSF52129																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	74	58741883	58741883	T	C	1	0	0	0	0	1	0	0	0	9123	1609	56	5		5	MALT1	18	58741883	Missense_Mutation	SNP	T	C3N-01405_TP	3462303	58741883	21631402	384	24331											
ZNF532	0	.	GRCh38	chr18	58953550	58953550	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acattgaaaagtattgaaggGcctccaaacttgggtataaa	16	10	9	6	0	0	2	0	2	0	0	1	2	1	2	2	2	1	2	2	2	8	6			C3N-01405_TP	C3N-01405_NB	G	G																c.2901G>C	p.=	p.G967G	ENST00000336078	8/11	116	100	16	116	116	0	varscan-mutect	ZNF532,synonymous_variant,p.=,ENST00000336078,NM_001318726.1,NM_001318727.1,NM_001318728.1,NM_018181.4;ZNF532,synonymous_variant,p.=,ENST00000589288,;ZNF532,synonymous_variant,p.=,ENST00000591083,;ZNF532,synonymous_variant,p.=,ENST00000591808,;ZNF532,synonymous_variant,p.=,ENST00000591230,;ZNF532,intron_variant,,ENST00000586997,;ZNF532,non_coding_transcript_exon_variant,,ENST00000592249,;ZNF532,synonymous_variant,p.=,ENST00000585662,;	C	ENST00000336078	Transcript	synonymous_variant	3677/6696	2901/3906	967/1301	G	ggG/ggC	COSM1289153	1		1	ZNF532	HGNC	HGNC:30940	protein_coding	YES	CCDS11969.1	ENSP00000338217	Q9HCE3	A0A024R283	UPI000013D30C	NM_001318726.1,NM_001318727.1,NM_001318728.1,NM_018181.4			8/11		hmmpanther:PTHR26374,hmmpanther:PTHR26374:SF204											1						LOW	1	SNV	1		1	1										PASS		.	.												C	2	2	74	58953550	58953550	G	C	1	0	0	0	0	0	0	0	1	18545	1190	42	4		4	ZNF532	18	58953550	Silent	SNP	G	C3N-01405_TP	211667	58953550	21419735	385	24332											
HCN2	0	.	GRCh38	chr19	616296	616296	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctcgctgcctcacggcgCccccggccccgcggcctcca	2	4	11	24	6	1	0	1	0	0	0	3	0	2	0	8	3	1	1	8	3	0	0	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.2492C>A	p.Ala831Asp	p.A831D	ENST00000251287	8/8	54	47	7	67	67	0	strelka-varscan-mutect	HCN2,missense_variant,p.Ala831Asp,ENST00000251287,NM_001194.3;POLRMT,downstream_gene_variant,,ENST00000588649,NM_005035.3;POLRMT,downstream_gene_variant,,ENST00000590336,;POLRMT,downstream_gene_variant,,ENST00000587057,;POLRMT,downstream_gene_variant,,ENST00000589961,;POLRMT,downstream_gene_variant,,ENST00000592633,;	A	ENST00000251287	Transcript	missense_variant	2545/3408	2492/2670	831/889	A/D	gCc/gAc		1		1	HCN2	HGNC	HGNC:4846	protein_coding	YES	CCDS12035.1	ENSP00000251287	Q9UL51		UPI000013CCF6	NM_001194.3	deleterious_low_confidence(0.04)		8/8		Low_complexity_(Seg):seg,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF372																	MODERATE	1	SNV	1			1										PASS		rs1381620056	.												A	3	1	74	616296	616296	C	A	1	0	0	0	0	1	0	0	0	6884	739	26	2		2	HCN2	19	616296	Missense_Mutation	SNP	C	C3N-01405_TP		616296	58001320	386	24333											
SAFB	0	.	GRCh38	chr19	5668185	5668185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcagctttgccccaggcgGggcctcccggggccacccca	4	4	14	19	3	0	0	0	0	0	0	1	0	1	0	7	6	2	2	7	6	0	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.2648G>T	p.Gly883Val	p.G883V	ENST00000588852	21/21	140	111	29	111	111	0	strelka-varscan-mutect	SAFB,missense_variant,p.Gly881Val,ENST00000292123,NM_001320572.1,NM_002967.3;SAFB,missense_variant,p.Gly882Val,ENST00000592224,NM_001201339.1;SAFB,missense_variant,p.Gly883Val,ENST00000588852,NM_001201338.1;SAFB,missense_variant,p.Gly814Val,ENST00000454510,NM_001201340.1;SAFB,downstream_gene_variant,,ENST00000589006,;SAFB,3_prime_UTR_variant,,ENST00000589863,NM_001320571.1;SAFB,non_coding_transcript_exon_variant,,ENST00000591991,;SAFB,non_coding_transcript_exon_variant,,ENST00000592555,;SAFB,downstream_gene_variant,,ENST00000586281,;	T	ENST00000588852	Transcript	missense_variant	2701/2842	2648/2754	883/917	G/V	gGg/gTg		1		1	SAFB	HGNC	HGNC:10520	protein_coding	YES	CCDS59339.1	ENSP00000467423	Q15424		UPI0000E5BE82	NM_001201338.1	deleterious(0)		21/21		hmmpanther:PTHR15683:SF6,hmmpanther:PTHR15683																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	5668185	5668185	G	T	1	0	0	0	0	1	0	0	0	14065	1232	43	2		2	SAFB	19	5668185	Missense_Mutation	SNP	G	C3N-01405_TP	5051889	5668185	52949431	387	24334											
ADGRE1	0	.	GRCh38	chr19	6896523	6896523	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaaaatcacttcaaggatCcaggagtgcgatgcaaaggt	14	7	12	8	1	2	0	2	0	0	0	3	3	3	2	1	4	2	2	1	4	4	1			C3N-01405_TP	C3N-01405_NB	C	C																c.220C>A	p.Pro74Thr	p.P74T	ENST00000312053	3/21	99	69	30	87	87	0	strelka-varscan-mutect	ADGRE1,missense_variant,p.Pro74Thr,ENST00000312053,NM_001974.4;ADGRE1,missense_variant,p.Pro74Thr,ENST00000381404,NM_001256252.1;ADGRE1,missense_variant,p.Pro74Thr,ENST00000250572,NM_001256253.1;ADGRE1,missense_variant,p.Pro74Thr,ENST00000381407,NM_001256254.1;ADGRE1,missense_variant,p.Pro74Thr,ENST00000450315,NM_001256255.1;ADGRE1,missense_variant,p.Pro40Thr,ENST00000595026,;CTC-312O10.3,non_coding_transcript_exon_variant,,ENST00000624996,;ADGRE1,non_coding_transcript_exon_variant,,ENST00000601198,;ADGRE1,non_coding_transcript_exon_variant,,ENST00000596944,;CTC-312O10.2,upstream_gene_variant,,ENST00000595362,;	A	ENST00000312053	Transcript	missense_variant	257/3128	220/2661	74/886	P/T	Cca/Aca	COSM713972	1		1	ADGRE1	HGNC	HGNC:3336	protein_coding	YES	CCDS12175.1	ENSP00000311545	Q14246		UPI0000203241	NM_001974.4	tolerated(0.11)		3/21		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF303,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	74	6896523	6896523	C	A	1	0	0	0	0	1	0	0	0	359	855	30	2		2	ADGRE1	19	6896523	Missense_Mutation	SNP	C	C3N-01405_TP	1228338	6896523	51721093	388	24335											
INSR	0	.	GRCh38	chr19	7117253	7117253	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgtcctcaaactccatctCcagctcctcactctcgggag	8	10	6	17	1	4	0	2	0	2	0	9	1	7	1	4	1	2	1	4	1	1	0	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.3952G>T	p.Glu1318Ter	p.E1318*	ENST00000302850	22/22	308	244	64	269	269	0	strelka-varscan-mutect	INSR,stop_gained,p.Glu1306Ter,ENST00000341500,NM_001079817.1;INSR,stop_gained,p.Glu1318Ter,ENST00000302850,NM_000208.2;INSR,downstream_gene_variant,,ENST00000601099,;	A	ENST00000302850	Transcript	stop_gained	4095/4721	3952/4149	1318/1382	E/*	Gag/Tag		1		-1	INSR	HGNC	HGNC:6091	protein_coding	YES	CCDS12176.1	ENSP00000303830	P06213		UPI000020324D	NM_000208.2			22/22		PIRSF_domain:PIRSF000620,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF325,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	74	7117253	7117253	C	A	1	0	0	0	0	0	1	0	0	7675	864	30	2		2	INSR	19	7117253	Nonsense_Mutation	SNP	C	C3N-01405_TP	220730	7117253	51500363	389	24336											
EVI5L	0	.	GRCh38	chr19	7847921	7847921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggagaagctgctcaaGgtggggggcggccaggcagg	10	3	21	7	1	1	1	1	0	0	1	1	3	1	2	1	9	2	3	1	9	3	0	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.327G>T	p.Lys109Asn	p.K109N	ENST00000538904	2/19	70	59	11	50	50	0	strelka-varscan-mutect	EVI5L,missense_variant,p.Lys109Asn,ENST00000270530,NM_145245.4;EVI5L,missense_variant,p.Lys109Asn,ENST00000538904,NM_001159944.2;EVI5L,upstream_gene_variant,,ENST00000599036,;EVI5L,upstream_gene_variant,,ENST00000601984,;EVI5L,upstream_gene_variant,,ENST00000597440,;	T	ENST00000538904	Transcript	missense_variant,splice_region_variant	327/2418	327/2418	109/805	K/N	aaG/aaT		1		1	EVI5L	HGNC	HGNC:30464	protein_coding	YES	CCDS54209.1	ENSP00000445905	Q96CN4		UPI00019145BF	NM_001159944.2	deleterious(0)		2/19		Low_complexity_(Seg):seg,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF254,Gene3D:2qq8A02,Superfamily_domains:SSF47923																	MODERATE	1	SNV	1			1										PASS		rs1226460301	.												T	3	4	74	7847921	7847921	G	T	1	0	0	0	0	1	0	0	0	5157	1014	35	2		2	EVI5L	19	7847921	Missense_Mutation	SNP	G	C3N-01405_TP	730668	7847921	50769695	390	24337											
MUC16	0	.	GRCh38	chr19	8922971	8922971	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtggcgttgaacttcCtggaaccagggtgccgcatg	6	11	13	11	2	1	1	0	1	1	0	3	2	2	2	3	3	3	2	3	3	2	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.36290G>C	p.Arg12097Thr	p.R12097T	ENST00000397910	9/84	136	96	40	180	180	0	strelka-varscan-mutect	MUC16,missense_variant,p.Arg12097Thr,ENST00000397910,NM_024690.2;	G	ENST00000397910	Transcript	missense_variant	36494/43816	36290/43524	12097/14507	R/T	aGg/aCg		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			9/84		PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Gene3D:1ivzA00,Pfam_domain:PF01390,SMART_domains:SM00200,Superfamily_domains:0047452																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	74	8922971	8922971	C	G	1	0	0	0	0	1	0	0	0	9972	681	24	4		4	MUC16	19	8922971	Missense_Mutation	SNP	C	C3N-01405_TP	1075050	8922971	49694645	391	24338											
MUC16	0	.	GRCh38	chr19	8949971	8949971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagctgtgttttctgaaagCtgaattgcctctgtctccat	8	15	8	10	0	3	2	0	2	3	0	4	2	3	2	2	0	3	3	2	0	2	3	rs747191511		C3N-01405_TP	C3N-01405_NB	C	C																c.26799G>T	p.Gln8933His	p.Q8933H	ENST00000397910	3/84	185	145	40	200	200	0	strelka-varscan-mutect	MUC16,missense_variant,p.Gln8933His,ENST00000397910,NM_024690.2;	A	ENST00000397910	Transcript	missense_variant	27003/43816	26799/43524	8933/14507	Q/H	caG/caT	rs747191511	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			MODERATE	1	SNV	5			1										PASS		rs747191511	.												A	3	1	74	8949971	8949971	C	A	1	0	0	0	0	1	0	0	0	9972	796	28	2		2	MUC16	19	8949971	Missense_Mutation	SNP	C	C3N-01405_TP	27000	8949971	49667645	392	24339											
MUC16	0	.	GRCh38	chr19	8972433	8972433	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggtaaagaagcggacttAgtatccaaacttgggacctc	12	10	11	8	1	0	1	0	0	0	1	2	3	1	3	2	3	2	3	2	3	6	5	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.8706T>A	p.=	p.T2902T	ENST00000397910	1/84	130	98	32	134	133	1	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	synonymous_variant	8910/43816	8706/43524	2902/14507	T	acT/acA		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	74	8972433	8972433	A	T	1	0	0	0	0	0	0	0	1	9972	407	15	4		4	MUC16	19	8972433	Silent	SNP	A	C3N-01405_TP	22462	8972433	49645183	393	24340											
OR7E24	0	.	GRCh38	chr19	9251076	9251076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaattctctttttttttttCctcaaaaggtgtccgagcta	8	18	5	10	1	2	0	1	0	1	0	5	1	4	0	3	1	1	1	3	1	4	7	rs756873275		C3N-01405_TP	C3N-01405_NB	C	C																c.33C>T	p.=	p.F11F	ENST00000456448	1/1	69	64	5	56	56	0	varscan-mutect	OR7E24,synonymous_variant,p.=,ENST00000456448,NM_001079935.1;	T	ENST00000456448	Transcript	synonymous_variant	147/1550	33/1020	11/339	F	ttC/ttT	rs756873275	1		1	OR7E24	HGNC	HGNC:8396	protein_coding	YES	CCDS45955.1	ENSP00000387523	Q6IFN5		UPI00003B2886	NM_001079935.1			1/1																			LOW	1	SNV				1										PASS		rs1173215882	.												T	2	4	74	9251076	9251076	C	T	1	0	0	0	0	0	0	0	1	11291	854	30	3		3	OR7E24	19	9251076	Silent	SNP	C	C3N-01405_TP	278643	9251076	49366540	394	24341											
ANGPTL6	0	.	GRCh38	chr19	10096085	10096085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcggaacttgacgtccAgctggtggaaccgggcggct	6	7	16	12	5	0	1	0	1	0	0	2	3	1	3	2	5	3	3	2	5	2	1	rs771917209		C3N-01405_TP	C3N-01405_NB	A	A																c.479T>A	p.Leu160Gln	p.L160Q	ENST00000253109	2/6	76	61	15	53	53	0	strelka-varscan-mutect	ANGPTL6,missense_variant,p.Leu160Gln,ENST00000253109,NM_031917.2;ANGPTL6,missense_variant,p.Leu160Gln,ENST00000592641,NM_001321411.1;ANGPTL6,missense_variant,p.Leu160Gln,ENST00000589181,;C19orf66,downstream_gene_variant,,ENST00000397881,;C19orf66,downstream_gene_variant,,ENST00000253110,NM_018381.2;C19orf66,downstream_gene_variant,,ENST00000591813,NM_001308277.1;C19orf66,downstream_gene_variant,,ENST00000593131,;ANGPTL6,non_coding_transcript_exon_variant,,ENST00000586910,;C19orf66,downstream_gene_variant,,ENST00000585919,;C19orf66,downstream_gene_variant,,ENST00000586730,;C19orf66,downstream_gene_variant,,ENST00000587710,;	T	ENST00000253109	Transcript	missense_variant	718/1900	479/1413	160/470	L/Q	cTg/cAg	rs771917209	1		-1	ANGPTL6	HGNC	HGNC:23140	protein_coding	YES	CCDS12224.1	ENSP00000253109	Q8NI99	A0A024R7A9	UPI000004BA54	NM_031917.2	deleterious(0)		2/6		hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF209																	MODERATE	1	SNV	1			1										PASS		rs771917209	.												T	3	4	74	10096085	10096085	A	T	1	0	0	0	0	1	0	0	0	716	188	7	4		4	ANGPTL6	19	10096085	Missense_Mutation	SNP	A	C3N-01405_TP	845009	10096085	48521531	395	24342											
KEAP1	0	.	GRCh38	chr19	10499890	10499903	+	Frame_Shift_Del	DEL	GCCATGCTGGGAGG	GCCATGCTGGGAGG	-																															gtgtagctgaaggtgcggttGccatgctgggagggcgtcac																								novel		C3N-01405_TP	C3N-01405_NB	GCCATGCTGGGAGG	GCCATGCTGGGAGG																c.131_144delCCTCCCAGCATGGC	p.Pro44GlnfsTer30	p.P44Qfs*30	ENST00000171111	2/6	77	67	10	65	65	0	sindel-pindel	KEAP1,frameshift_variant,p.Pro44GlnfsTer30,ENST00000171111,NM_203500.1;KEAP1,frameshift_variant,p.Pro44GlnfsTer30,ENST00000393623,NM_012289.3;KEAP1,frameshift_variant,p.Pro44GlnfsTer30,ENST00000591419,;KEAP1,frameshift_variant,p.Pro44GlnfsTer30,ENST00000592055,;KEAP1,frameshift_variant,p.Pro44GlnfsTer30,ENST00000591039,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000585845,;	-	ENST00000171111	Transcript	frameshift_variant	679-692/2955	131-144/1875	44-48/624	PSQHG/X	cCCTCCCAGCATGGC/c		1		-1	KEAP1	HGNC	HGNC:23177	protein_coding	YES	CCDS12239.1	ENSP00000171111	Q14145	A0A024R7C0	UPI000007139C	NM_203500.1			2/6		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,PIRSF_domain:PIRSF037037																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	74	10499890	10499890	GCCATGCTGGGAGG	-	1	0	1	0	1	0	0	0	0	8061	1306	46	0		0	KEAP1	19	10499890	Frame_Shift_Del	DEL	GCCATGCTGGGAGG	C3N-01405_TP	403805	10499890	48117726	396	24343											
CACNA1A	0	.	GRCh38	chr19	13255182	13255182	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accacgaactgccacatgcgGtactggaagctctgcttgtt	9	10	10	12	2	1	0	0	0	1	0	1	2	1	1	2	2	6	4	2	2	3	3	rs370203027		C3N-01405_TP	C3N-01405_NB	G	G																c.4668C>A	p.Tyr1556Ter	p.Y1556*	ENST00000360228	29/47	99	70	29	87	87	0	strelka-varscan-mutect	CACNA1A,stop_gained,p.Tyr1557Ter,ENST00000638009,NM_001127221.1;CACNA1A,stop_gained,p.Tyr1557Ter,ENST00000635895,;CACNA1A,stop_gained,p.Tyr1557Ter,ENST00000637769,;CACNA1A,stop_gained,p.Tyr1556Ter,ENST00000360228,NM_001127222.1;CACNA1A,stop_gained,p.Tyr1560Ter,ENST00000614285,;CACNA1A,stop_gained,p.Tyr1510Ter,ENST00000637736,;CACNA1A,stop_gained,p.Tyr1557Ter,ENST00000636389,;CACNA1A,stop_gained,p.Tyr1560Ter,ENST00000638029,NM_023035.2;CACNA1A,stop_gained,p.Tyr1560Ter,ENST00000637432,NM_000068.3;CACNA1A,stop_gained,p.Tyr1558Ter,ENST00000573710,;CACNA1A,stop_gained,p.Tyr1557Ter,ENST00000635727,;CACNA1A,stop_gained,p.Tyr1557Ter,ENST00000636012,;CACNA1A,stop_gained,p.Tyr1557Ter,ENST00000637276,;CACNA1A,stop_gained,p.Tyr1558Ter,ENST00000637927,;CACNA1A,stop_gained,p.Tyr1557Ter,ENST00000636549,NM_001174080.1;CACNA1A,stop_gained,p.Tyr43Ter,ENST00000587525,;CACNA1A,stop_gained,p.Tyr22Ter,ENST00000637819,;CACNA1A,intron_variant,,ENST00000637297,;CACNA1A,upstream_gene_variant,,ENST00000585802,;CACNA1A,upstream_gene_variant,,ENST00000636473,;CACNA1A,upstream_gene_variant,,ENST00000574822,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000637004,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000636816,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000635742,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000635917,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000637692,;CACNA1A,downstream_gene_variant,,ENST00000590205,;CACNA1A,downstream_gene_variant,,ENST00000637168,;CACNA1A,downstream_gene_variant,,ENST00000636984,;CACNA1A,upstream_gene_variant,,ENST00000573891,;CACNA1A,upstream_gene_variant,,ENST00000636058,;	T	ENST00000360228	Transcript	stop_gained	4903/8627	4668/7521	1556/2506	Y/*	taC/taA	rs370203027,COSM3529028,COSM3529029,COSM3529030,COSM3529031	1		-1	CACNA1A	HGNC	HGNC:1388	protein_coding	YES	CCDS45998.1	ENSP00000353362	O00555		UPI0000141565	NM_001127222.1			29/47		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Gene3D:1.20.120.350											0,1,1,1,1						HIGH	1	SNV	1		0,1,1,1,1	1										PASS		rs370203027	.												T	4	4	74	13255182	13255182	G	T	1	0	0	0	0	0	1	0	0	2226	1256	44	2		2	CACNA1A	19	13255182	Nonsense_Mutation	SNP	G	C3N-01405_TP	2755292	13255182	45362434	397	24344											
COMP	0	.	GRCh38	chr19	18790922	18790922	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttcccgaagcatctgcggGcccaggtctgagcctgcggc	6	7	14	14	3	2	1	0	1	2	0	3	2	3	1	3	3	4	2	3	3	1	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.93C>T	p.=	p.G31G	ENST00000222271	2/19	317	272	45	220	220	0	strelka-varscan-mutect	COMP,synonymous_variant,p.=,ENST00000222271,NM_000095.2;COMP,synonymous_variant,p.=,ENST00000425807,;COMP,5_prime_UTR_variant,,ENST00000542601,;COMP,upstream_gene_variant,,ENST00000612179,;	A	ENST00000222271	Transcript	synonymous_variant	138/2461	93/2274	31/757	G	ggC/ggT		1		-1	COMP	HGNC	HGNC:2227	protein_coding	YES	CCDS12385.1	ENSP00000222271	P49747		UPI000013C7F6	NM_000095.2			2/19		Gene3D:1.20.5.10,Pfam_domain:PF11598,Superfamily_domains:0053531																	LOW	1	SNV	1			1										PASS		rs1172549461	.												A	2	1	74	18790922	18790922	G	A	1	0	0	0	0	0	0	0	1	3516	1190	42	3		3	COMP	19	18790922	Silent	SNP	G	C3N-01405_TP	5535740	18790922	39826694	398	24345											
HKR1	0	.	GRCh38	chr19	37363007	37363007	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacacctggtcagacacaaGaggacacattcaggagagaa	16	5	10	10	0	3	3	3	0	0	3	3	6	3	5	1	3	0	0	1	3	2	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1212G>C	p.Lys404Asn	p.K404N	ENST00000324411	6/6	178	132	46	185	185	0	strelka-varscan-mutect	HKR1,missense_variant,p.Lys131Asn,ENST00000591471,;HKR1,missense_variant,p.Lys404Asn,ENST00000324411,NM_181786.2;HKR1,missense_variant,p.Lys131Asn,ENST00000544914,;HKR1,missense_variant,p.Lys385Asn,ENST00000392153,;HKR1,missense_variant,p.Lys343Asn,ENST00000541583,;HKR1,missense_variant,p.Lys386Asn,ENST00000589392,;HKR1,intron_variant,,ENST00000591134,;HKR1,downstream_gene_variant,,ENST00000591259,;HKR1,downstream_gene_variant,,ENST00000590582,;HKR1,downstream_gene_variant,,ENST00000592768,;HKR1,downstream_gene_variant,,ENST00000585623,;HKR1,downstream_gene_variant,,ENST00000592168,;HKR1,downstream_gene_variant,,ENST00000591391,;HKR1,downstream_gene_variant,,ENST00000591417,;HKR1,downstream_gene_variant,,ENST00000586897,;HKR1,non_coding_transcript_exon_variant,,ENST00000588820,;HKR1,downstream_gene_variant,,ENST00000590570,;	C	ENST00000324411	Transcript	missense_variant	1481/2929	1212/1980	404/659	K/N	aaG/aaC		1		1	HKR1	HGNC	HGNC:4928	protein_coding	YES	CCDS12502.1	ENSP00000315505	P10072		UPI00001AE470	NM_181786.2	deleterious(0)		6/6		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF129,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	74	37363007	37363007	G	C	1	0	0	0	0	1	0	0	0	7083	933	33	4		4	HKR1	19	37363007	Missense_Mutation	SNP	G	C3N-01405_TP	18572085	37363007	21254609	399	24346											
AXL	0	.	GRCh38	chr19	41257528	41257528	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgtgggagattgccacAagaggccaaaccccatatcc	14	6	9	12	0	0	2	0	0	0	2	1	3	1	2	5	2	2	0	5	2	4	2	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.2232A>G	p.=	p.T744T	ENST00000301178	19/20	224	173	51	181	181	0	strelka-varscan-mutect	AXL,synonymous_variant,p.=,ENST00000301178,NM_021913.4;AXL,synonymous_variant,p.=,ENST00000359092,NM_001699.5;AXL,synonymous_variant,p.=,ENST00000593513,NM_001278599.1;HNRNPUL1,upstream_gene_variant,,ENST00000352456,;HNRNPUL1,upstream_gene_variant,,ENST00000595018,NM_144732.3;	G	ENST00000301178	Transcript	synonymous_variant	2422/4737	2232/2685	744/894	T	acA/acG		1		1	AXL	HGNC	HGNC:905	protein_coding	YES	CCDS12575.1	ENSP00000301178	P30530		UPI000014319B	NM_021913.4			19/20		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF323,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	74	41257528	41257528	A	G	1	0	0	0	0	0	0	0	1	1395	117	5	5		5	AXL	19	41257528	Silent	SNP	A	C3N-01405_TP	3894521	41257528	17360088	400	24347											
TGFB1	0	.	GRCh38	chr19	41348354	41348354	+	Frame_Shift_Del	DEL	C	C	-																															cctcagcagacgcagctctgCccgggagagcaacacgggtt																								novel		C3N-01405_TP	C3N-01405_NB	C	C																c.457delG	p.Ala153GlnfsTer6	p.A153Qfs*6	ENST00000221930	2/7	316	225	91	327	327	0	sindel-varindel-pindel	TGFB1,frameshift_variant,p.Ala153GlnfsTer6,ENST00000221930,NM_000660.5;TMEM91,upstream_gene_variant,,ENST00000539627,;CTC-435M10.3,upstream_gene_variant,,ENST00000604424,;TGFB1,upstream_gene_variant,,ENST00000600196,;TGFB1,upstream_gene_variant,,ENST00000597453,;	-	ENST00000221930	Transcript	frameshift_variant	1324/2769	457/1173	153/390	A/X	Gca/ca		1		-1	TGFB1	HGNC	HGNC:11766	protein_coding	YES	CCDS33031.1	ENSP00000221930	P01137		UPI000013C7E1	NM_000660.5			2/7		Low_complexity_(Seg):seg,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF125,PIRSF_domain:PIRSF001787,Pfam_domain:PF00688,Prints_domain:PR01424																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	74	41348354	41348354	C	-	1	0	1	0	1	0	0	0	0	16249	739	26	0		0	TGFB1	19	41348354	Frame_Shift_Del	DEL	C	C3N-01405_TP	90826	41348354	17269262	401	24348											
GPR32	0	.	GRCh38	chr19	50771482	50771482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaatctaccacccccggatGctgctcatcctccaggctag	9	8	8	16	1	2	0	1	0	1	0	4	2	4	1	5	2	3	3	5	2	3	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.882G>A	p.Met294Ile	p.M294I	ENST00000270590	1/1	150	132	18	160	160	0	strelka-varscan-mutect	GPR32,missense_variant,p.Met294Ile,ENST00000270590,NM_001506.2;CTD-2568A17.1,downstream_gene_variant,,ENST00000563228,;	A	ENST00000270590	Transcript	missense_variant	1019/1269	882/1071	294/356	M/I	atG/atA		1		1	GPR32	HGNC	HGNC:4487	protein_coding	YES	CCDS12801.1	ENSP00000270590	O75388	H9NIL6	UPI000005045C	NM_001506.2	tolerated(0.16)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF27,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	74	50771482	50771482	G	A	1	0	0	0	0	1	0	0	0	6572	1319	46	3		3	GPR32	19	50771482	Missense_Mutation	SNP	G	C3N-01405_TP	9423128	50771482	7846134	402	24349											
PPP6R1	0	.	GRCh38	chr19	55230835	55230835	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccttctgtggtctggggggGctggtgggccccggaggctg	1	9	20	11	1	2	0	0	0	2	0	2	1	2	1	3	8	0	2	3	8	0	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.2509C>G	p.Pro837Ala	p.P837A	ENST00000412770	22/24	157	140	17	135	135	0	strelka-varscan-mutect	PPP6R1,missense_variant,p.Pro837Ala,ENST00000412770,NM_014931.3;PPP6R1,missense_variant,p.Pro837Ala,ENST00000587283,;TMEM86B,upstream_gene_variant,,ENST00000327042,NM_173804.4;MIR6804,downstream_gene_variant,,ENST00000614724,;PPP6R1,non_coding_transcript_exon_variant,,ENST00000587457,;CTD-2587H24.14,upstream_gene_variant,,ENST00000586923,;TMEM86B,upstream_gene_variant,,ENST00000585416,;TMEM86B,upstream_gene_variant,,ENST00000589190,;	C	ENST00000412770	Transcript	missense_variant	3076/3961	2509/2646	837/881	P/A	Ccc/Gcc		1		-1	PPP6R1	HGNC	HGNC:29195	protein_coding	YES	CCDS46186.1	ENSP00000414202	Q9UPN7		UPI0000202C6D	NM_014931.3	tolerated_low_confidence(0.26)		22/24		hmmpanther:PTHR12634:SF13,hmmpanther:PTHR12634																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	74	55230835	55230835	G	C	1	0	0	0	0	1	0	0	0	12534	1203	42	4		4	PPP6R1	19	55230835	Missense_Mutation	SNP	G	C3N-01405_TP	4459353	55230835	3386781	403	24350											
IL11	0	.	GRCh38	chr19	55366103	55366103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggcggccctgatgcccccCcaggctgaggaggggggcgc	4	4	19	14	2	0	2	0	2	0	0	0	3	0	3	4	7	1	1	4	7	0	0	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.504G>T	p.Trp168Cys	p.W168C	ENST00000264563	5/5	172	127	45	125	124	1	strelka-varscan-mutect	IL11,missense_variant,p.Trp168Cys,ENST00000264563,NM_000641.3;IL11,missense_variant,p.Trp168Cys,ENST00000585513,;IL11,missense_variant,p.Trp89Cys,ENST00000590625,NM_001267718.1;FAM71E2,upstream_gene_variant,,ENST00000424985,NM_001145402.1;IL11,downstream_gene_variant,,ENST00000587093,;FAM71E2,upstream_gene_variant,,ENST00000585734,;	A	ENST00000264563	Transcript	missense_variant	567/2281	504/600	168/199	W/C	tgG/tgT		1		-1	IL11	HGNC	HGNC:5966	protein_coding	YES	CCDS12923.1	ENSP00000264563	P20809	A8K3F7	UPI000000D8E5	NM_000641.3	deleterious(0)		5/5		Pfam_domain:PF07400,hmmpanther:PTHR16922,hmmpanther:PTHR16922:SF0,Superfamily_domains:SSF47266																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	55366103	55366103	C	A	1	0	0	0	0	1	0	0	0	7530	624	22	2		2	IL11	19	55366103	Missense_Mutation	SNP	C	C3N-01405_TP	135268	55366103	3251513	404	24351											
ZSCAN5A	0	.	GRCh38	chr19	56222031	56222031	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttggcttcttggccatcCgggtgactgactgggctcgc	3	11	14	13	2	1	2	0	2	1	0	3	2	2	2	3	4	0	2	3	4	0	3	rs765875730		C3N-01405_TP	C3N-01405_NB	C	C																c.1035G>T	p.=	p.P345P	ENST00000391713	5/5	257	182	75	207	207	0	strelka-varscan-mutect	ZSCAN5A,synonymous_variant,p.=,ENST00000391713,NM_024303.1;ZSCAN5A,synonymous_variant,p.=,ENST00000587340,NM_001322072.1;ZSCAN5A,synonymous_variant,p.=,ENST00000592355,;ZSCAN5A,synonymous_variant,p.=,ENST00000587492,;ZSCAN5A,downstream_gene_variant,,ENST00000592679,;ZSCAN5A,downstream_gene_variant,,ENST00000593106,;ZSCAN5A,downstream_gene_variant,,ENST00000592509,;ZSCAN5A,downstream_gene_variant,,ENST00000588442,;ZSCAN5A,downstream_gene_variant,,ENST00000588955,;ZSCAN5A,downstream_gene_variant,,ENST00000592101,;CTD-2086L14.1,upstream_gene_variant,,ENST00000474329,;	A	ENST00000391713	Transcript	synonymous_variant	1201/3562	1035/1491	345/496	P	ccG/ccT	rs765875730	1		-1	ZSCAN5A	HGNC	HGNC:23710	protein_coding	YES	CCDS12941.1	ENSP00000375593	Q9BUG6	A0A024R4S6	UPI0000072024	NM_024303.1			5/5		hmmpanther:PTHR10032:SF164,hmmpanther:PTHR10032																	LOW	1	SNV	1			1										PASS		rs765875730	.												A	2	1	74	56222031	56222031	C	A	1	0	0	0	0	0	0	0	1	18837	639	23	1		1	ZSCAN5A	19	56222031	Silent	SNP	C	C3N-01405_TP	855928	56222031	2395585	405	24352											
ZIK1	0	.	GRCh38	chr19	57588646	57588646	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgatgctggagaacttTgcccttgtagcctcactggg	8	11	13	9	0	1	2	1	1	0	1	1	4	1	2	2	2	4	2	2	2	3	3	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.180T>A	p.Phe60Leu	p.F60L	ENST00000597850	3/4	31	18	13	28	28	0	strelka-varscan-mutect	ZIK1,missense_variant,p.Phe60Leu,ENST00000597850,NM_001010879.2;ZIK1,missense_variant,p.Phe47Leu,ENST00000536878,NM_001321145.1;ZIK1,missense_variant,p.Phe5Leu,ENST00000599456,;ZIK1,missense_variant,p.Phe41Leu,ENST00000600053,;ZIK1,missense_variant,p.Phe33Leu,ENST00000598689,;ZIK1,intron_variant,,ENST00000307468,;ZIK1,downstream_gene_variant,,ENST00000597219,;ZIK1,downstream_gene_variant,,ENST00000598726,;	A	ENST00000597850	Transcript	missense_variant	395/4181	180/1464	60/487	F/L	ttT/ttA		1		1	ZIK1	HGNC	HGNC:33104	protein_coding	YES	CCDS33135.1	ENSP00000472867	Q3SY52		UPI00001609B2	NM_001010879.2	tolerated(0.37)		3/4		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF219,SMART_domains:SM00349																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	57588646	57588646	T	A	1	0	0	0	0	1	0	0	0	18261	1809	63	4		4	ZIK1	19	57588646	Missense_Mutation	SNP	T	C3N-01405_TP	1366615	57588646	1028970	406	24353											
SNRPB	0	.	GRCh38	chr20	2463814	2463814	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggagcctggggcatgggaAccccagctgggattcctctg	7	7	15	12	0	1	0	0	0	1	0	2	3	2	3	4	5	3	2	4	5	1	1	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.353T>C	p.Val118Ala	p.V118A	ENST00000438552	4/7	149	118	31	109	109	0	strelka-varscan-mutect	SNRPB,missense_variant,p.Val118Ala,ENST00000381342,NM_003091.3;SNRPB,missense_variant,p.Val118Ala,ENST00000438552,NM_198216.1;SNRPB,3_prime_UTR_variant,,ENST00000474384,;RP4-734P14.4,downstream_gene_variant,,ENST00000461548,;	G	ENST00000438552	Transcript	missense_variant	516/1008	353/723	118/240	V/A	gTt/gCt		1		-1	SNRPB	HGNC	HGNC:11153	protein_coding	YES	CCDS13026.1	ENSP00000412566	P14678		UPI00001351FF	NM_198216.1	tolerated(0.35)		4/7		hmmpanther:PTHR10701:SF3,hmmpanther:PTHR10701,PIRSF_domain:PIRSF037187,Superfamily_domains:SSF50182																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	74	2463814	2463814	A	G	1	0	0	0	0	1	0	0	0	15181	43	2	5		5	SNRPB	20	2463814	Missense_Mutation	SNP	A	C3N-01405_TP		2463814	61980353	407	24354											
XRN2	0	.	GRCh38	chr20	21365484	21365484	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgtaatgcttccaggAgcaaggtaacaacagtaaat	17	8	9	7	0	0	0	0	0	0	0	1	1	1	1	1	2	5	6	1	2	7	4	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.2319A>T	p.=	p.G773G	ENST00000377191	25/30	164	131	33	149	149	0	strelka-varscan-mutect	XRN2,synonymous_variant,p.=,ENST00000377191,NM_001317960.1,NM_012255.3;	T	ENST00000377191	Transcript	synonymous_variant	2414/3437	2319/2853	773/950	G	ggA/ggT		1		1	XRN2	HGNC	HGNC:12836	protein_coding	YES	CCDS13144.1	ENSP00000366396	Q9H0D6		UPI0000037D02	NM_001317960.1,NM_012255.3			25/30		PIRSF_domain:PIRSF037239,hmmpanther:PTHR12341,hmmpanther:PTHR12341:SF35																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	74	21365484	21365484	A	T	1	0	0	0	0	0	0	0	1	18018	318	11	4		4	XRN2	20	21365484	Silent	SNP	A	C3N-01405_TP	18901670	21365484	43078683	408	24355											
NKX2-4	0	.	GRCh38	chr20	21396257	21396257	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtttcatcttgtaccggTggttctggaaccagatcttg	6	14	11	10	2	4	1	1	0	3	1	4	2	4	2	3	3	2	3	3	3	2	5	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.719A>T	p.His240Leu	p.H240L	ENST00000351817	2/2	511	451	60	393	393	0	strelka-varscan-mutect	NKX2-4,missense_variant,p.His240Leu,ENST00000351817,NM_033176.1;RP11-227D2.3,upstream_gene_variant,,ENST00000419666,;RP11-227D2.3,upstream_gene_variant,,ENST00000552439,;	A	ENST00000351817	Transcript	missense_variant	1348/2238	719/1065	240/354	H/L	cAc/cTc		1		-1	NKX2-4	HGNC	HGNC:7837	protein_coding	YES	CCDS42855.1	ENSP00000345147	Q9H2Z4		UPI00001AE6EC	NM_033176.1	deleterious(0)		2/2		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50071,hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF40,PROSITE_patterns:PS00027,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	74	21396257	21396257	T	A	1	0	0	0	0	1	0	0	0	10488	1696	59	4		4	NKX2-4	20	21396257	Missense_Mutation	SNP	T	C3N-01405_TP	30773	21396257	43047910	409	24356											
SUN5	0	.	GRCh38	chr20	32995649	32995649	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggcttccatctcctggagCttggcaatgagctggttcat	7	13	11	10	0	2	1	1	1	1	0	4	2	3	2	2	4	2	5	2	4	1	3	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.504G>T	p.Lys168Asn	p.K168N	ENST00000356173	8/13	222	206	16	190	190	0	strelka-varscan-mutect	SUN5,missense_variant,p.Lys168Asn,ENST00000356173,NM_080675.3;SUN5,missense_variant,p.Lys143Asn,ENST00000375523,;SUN5,downstream_gene_variant,,ENST00000420875,;SUN5,downstream_gene_variant,,ENST00000375519,;	A	ENST00000356173	Transcript	missense_variant	597/1254	504/1140	168/379	K/N	aaG/aaT		1		-1	SUN5	HGNC	HGNC:16252	protein_coding	YES	CCDS13209.1	ENSP00000348496	Q8TC36		UPI0000135D7C	NM_080675.3	deleterious(0.03)		8/13		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12911,hmmpanther:PTHR12911:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	32995649	32995649	C	A	1	0	0	0	0	1	0	0	0	15780	796	28	2		2	SUN5	20	32995649	Missense_Mutation	SNP	C	C3N-01405_TP	11599392	32995649	31448518	410	24357											
CHD6	0	.	GRCh38	chr20	41564027	41564027	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtacctgtagacttgggagtGaagatatctgggttctgaac	10	12	13	6	0	2	4	0	2	2	2	2	5	2	5	1	2	2	3	1	2	5	5	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.122C>G	p.Ser41Ter	p.S41*	ENST00000373222	2/7	129	103	26	119	119	0	strelka-varscan-mutect	CHD6,stop_gained,p.Ser41Ter,ENST00000373222,;CHD6,intron_variant,,ENST00000373233,NM_032221.4;CHD6,intron_variant,,ENST00000440647,;CHD6,intron_variant,,ENST00000482596,;	C	ENST00000373222	Transcript	stop_gained	161/2477	122/1122	41/373	S/*	tCa/tGa		1		-1	CHD6	HGNC	HGNC:19057	protein_coding			ENSP00000362319	Q8TD26		UPI0000470956				2/7																			HIGH		SNV	1			1										PASS		.	.												C	4	2	74	41564027	41564027	G	C	1	0	0	0	0	0	1	0	0	3088	1294	45	4		4	CHD6	20	41564027	Nonsense_Mutation	SNP	G	C3N-01405_TP	8568378	41564027	22880140	411	24358											
PTPRT	0	.	GRCh38	chr20	42106867	42106867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccccttcattctcggcCatgtcaagcatggtgtcaat	9	11	7	14	1	4	0	3	0	1	0	5	0	4	0	4	2	1	1	4	2	2	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.3366G>T	p.Met1122Ile	p.M1122I	ENST00000373198	25/32	199	183	16	153	153	0	strelka-varscan-mutect	PTPRT,missense_variant,p.Met1122Ile,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Met1125Ile,ENST00000373193,;PTPRT,missense_variant,p.Met1093Ile,ENST00000373201,;PTPRT,missense_variant,p.Met1102Ile,ENST00000373190,;PTPRT,missense_variant,p.Met1113Ile,ENST00000373184,;PTPRT,missense_variant,p.Met1112Ile,ENST00000356100,;PTPRT,missense_variant,p.Met1103Ile,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Met721Ile,ENST00000612229,;PTPRT,missense_variant,p.Met738Ile,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	A	ENST00000373198	Transcript	missense_variant	3602/12746	3366/4383	1122/1460	M/I	atG/atT		1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	deleterious(0)		25/32		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	74	42106867	42106867	C	A	1	0	0	0	0	1	0	0	0	12967	594	21	2		2	PTPRT	20	42106867	Missense_Mutation	SNP	C	C3N-01405_TP	542840	42106867	22337300	412	24359											
SRSF6	0	.	GRCh38	chr20	43460054	43460054	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttatgcgacaagcaggtGaagtaacctatgcggatgcc	12	10	11	8	2	0	1	0	1	0	0	0	3	0	2	2	2	5	2	2	2	5	4			C3N-01405_TP	C3N-01405_NB	G	G																c.403G>T	p.Glu135Ter	p.E135*	ENST00000244020	4/6	268	212	56	234	234	0	strelka-varscan-mutect	SRSF6,stop_gained,p.Glu135Ter,ENST00000244020,NM_006275.5;SRSF6,3_prime_UTR_variant,,ENST00000483871,;	T	ENST00000244020	Transcript	stop_gained	509/4325	403/1035	135/344	E/*	Gaa/Taa	COSM5039658	1		1	SRSF6	HGNC	HGNC:10788	protein_coding	YES	CCDS13318.1	ENSP00000244020	Q13247		UPI00001358C1	NM_006275.5			4/6		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF487,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	74	43460054	43460054	G	T	1	0	0	0	0	0	1	0	0	15543	1291	45	2		2	SRSF6	20	43460054	Nonsense_Mutation	SNP	G	C3N-01405_TP	1353187	43460054	20984113	413	24360											
OSER1	0	.	GRCh38	chr20	44197195	44197195	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatcggggagagccagacaGagttctggcgtgcagcgact	9	6	17	9	3	1	3	0	0	1	3	2	6	1	4	1	4	3	2	1	4	0	1	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.736C>G	p.Leu246Val	p.L246V	ENST00000372970	6/6	207	167	40	137	137	0	strelka-varscan-mutect	OSER1,missense_variant,p.Leu246Val,ENST00000372970,;OSER1,missense_variant,p.Leu246Val,ENST00000255174,NM_016470.7;	C	ENST00000372970	Transcript	missense_variant	917/1616	736/879	246/292	L/V	Ctg/Gtg		1		-1	OSER1	HGNC	HGNC:16105	protein_coding	YES	CCDS13327.1	ENSP00000362061	Q9NX31		UPI000004A0E4		tolerated(0.32)		6/6		hmmpanther:PTHR31383,hmmpanther:PTHR31383:SF2																	MODERATE	1	SNV	3			1										PASS		.	.												C	3	2	74	44197195	44197195	G	C	1	0	0	0	0	1	0	0	0	11353	933	33	4		4	OSER1	20	44197195	Missense_Mutation	SNP	G	C3N-01405_TP	737141	44197195	20246972	414	24361											
RBPJL	0	.	GRCh38	chr20	45316768	45316768	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgcgcgctcccatcacaAtccccatgagcctggtgcgc	6	7	11	17	3	1	1	1	1	0	0	3	1	3	1	4	2	3	2	4	2	1	0	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.1363A>T	p.Ile455Phe	p.I455F	ENST00000343694	12/12	251	208	43	189	189	0	strelka-varscan-mutect	RBPJL,missense_variant,p.Ile455Phe,ENST00000343694,NM_014276.3;RBPJL,missense_variant,p.Asn458Ile,ENST00000372741,NM_001281448.1;RBPJL,missense_variant,p.Ile454Phe,ENST00000372743,NM_001281449.1;RBPJL,missense_variant,p.Asn171Ile,ENST00000464504,;RBPJL,non_coding_transcript_exon_variant,,ENST00000622729,;	T	ENST00000343694	Transcript	missense_variant	1435/2489	1363/1554	455/517	I/F	Atc/Ttc		1		1	RBPJL	HGNC	HGNC:13761	protein_coding	YES	CCDS13349.1	ENSP00000341243	Q9UBG7		UPI0000047297	NM_014276.3	deleterious(0)		12/12		Gene3D:2.60.40.10,hmmpanther:PTHR10665,hmmpanther:PTHR10665:SF2,Superfamily_domains:SSF81296																	MODERATE	1	SNV	2			1										PASS		rs1056529995	.												T	3	4	74	45316768	45316768	A	T	1	0	0	0	0	1	0	0	0	13330	101	4	4		4	RBPJL	20	45316768	Missense_Mutation	SNP	A	C3N-01405_TP	1119573	45316768	19127399	415	24362											
SULF2	0	.	GRCh38	chr20	47676560	47676560	+	Missense_Mutation	SNP	C	C	A																															aggtccttcacacgctggtaCttgggcagaaagttctcctc																								novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1314G>T	p.Lys438Asn	p.K438N	ENST00000359930	10/21	257	234	23	193	193	0	strelka-varscan-mutect	SULF2,missense_variant,p.Lys438Asn,ENST00000359930,NM_018837.3;SULF2,missense_variant,p.Lys438Asn,ENST00000484875,NM_001161841.1;SULF2,missense_variant,p.Lys438Asn,ENST00000467815,NM_198596.2;CTD-2653D5.1,upstream_gene_variant,,ENST00000526566,;SULF2,non_coding_transcript_exon_variant,,ENST00000465769,;	A	ENST00000359930	Transcript	missense_variant	2166/4915	1314/2613	438/870	K/N	aaG/aaT		1		-1	SULF2	HGNC	HGNC:20392	protein_coding	YES	CCDS13408.1	ENSP00000353007	Q8IWU5		UPI000003FFBA	NM_018837.3	deleterious(0.01)		10/21		hmmpanther:PTHR10342:SF67,hmmpanther:PTHR10342,PIRSF_domain:PIRSF036665																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	47676560	47676560	C	A	1	0	0	0	0	1	0	0	0	15759	564	20	2		2	SULF2	20	47676560	Missense_Mutation	SNP	C	C3N-01405_TP	2359792	47676560	16767607	416	24363	509	2									
SULF2	0	.	GRCh38	chr20	47676561	47676561	+	Missense_Mutation	SNP	T	T	A																															ggtccttcacacgctggtacTtgggcagaaagttctcctcc																								rs143195457		C3N-01405_TP	C3N-01405_NB	T	T																c.1313A>T	p.Lys438Met	p.K438M	ENST00000359930	10/21	257	234	23	190	190	0	strelka-varscan-mutect	SULF2,missense_variant,p.Lys438Met,ENST00000359930,NM_018837.3;SULF2,missense_variant,p.Lys438Met,ENST00000484875,NM_001161841.1;SULF2,missense_variant,p.Lys438Met,ENST00000467815,NM_198596.2;CTD-2653D5.1,upstream_gene_variant,,ENST00000526566,;SULF2,non_coding_transcript_exon_variant,,ENST00000465769,;	A	ENST00000359930	Transcript	missense_variant	2165/4915	1313/2613	438/870	K/M	aAg/aTg	rs143195457	1		-1	SULF2	HGNC	HGNC:20392	protein_coding	YES	CCDS13408.1	ENSP00000353007	Q8IWU5		UPI000003FFBA	NM_018837.3	deleterious(0)		10/21		hmmpanther:PTHR10342:SF67,hmmpanther:PTHR10342,PIRSF_domain:PIRSF036665																	MODERATE	1	SNV	1			1										PASS		rs143195457	.												A	3	1	74	47676561	47676561	T	A	1	0	0	0	0	1	0	0	0	15759	1609	56	4		4	SULF2	20	47676561	Missense_Mutation	SNP	T	C3N-01405_TP	1	47676561	16767606	417	24364	509	2									
PREX1	0	.	GRCh38	chr20	48676244	48676244	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggaagcactgacttgtaGgtcttcaggtggtaatcacg	9	10	13	9	2	3	1	2	1	1	0	3	2	3	2	1	4	1	3	1	4	3	4	rs6019366		C3N-01405_TP	C3N-01405_NB	G	G																c.1614C>A	p.=	p.T538T	ENST00000371941	14/40	316	265	51	235	235	0	strelka-varscan-mutect	PREX1,synonymous_variant,p.=,ENST00000371941,NM_020820.3;	T	ENST00000371941	Transcript	synonymous_variant	1637/6636	1614/4980	538/1659	T	acC/acA	rs6019366	1		-1	PREX1	HGNC	HGNC:32594	protein_coding	YES	CCDS13410.1	ENSP00000361009	Q8TCU6		UPI000013D375	NM_020820.3			14/40		PROSITE_profiles:PS50186,hmmpanther:PTHR22829:SF6,hmmpanther:PTHR22829,Gene3D:1.10.10.10,Pfam_domain:PF00610,SMART_domains:SM00049,Superfamily_domains:SSF46785																	LOW	1	SNV	1			1										PASS		rs6019366	.												T	2	4	74	48676244	48676244	G	T	1	0	0	0	0	0	0	0	1	12610	987	35	2		2	PREX1	20	48676244	Silent	SNP	G	C3N-01405_TP	999683	48676244	15767923	418	24365											
PHACTR3	0	.	GRCh38	chr20	59773278	59773278	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcctcccacaccccaGgccaagccacactcttccaa	9	7	4	21	0	1	0	0	0	1	0	4	0	4	0	7	1	2	1	7	1	2	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.752-1G>T		p.X251_splice	ENST00000371015		105	98	7	64	64	0	strelka-varscan-mutect	PHACTR3,splice_acceptor_variant,,ENST00000371015,NM_080672.4;PHACTR3,splice_acceptor_variant,,ENST00000395636,NM_183244.1;PHACTR3,splice_acceptor_variant,,ENST00000541461,NM_001281507.1;PHACTR3,splice_acceptor_variant,,ENST00000359926,NM_001199505.1;PHACTR3,splice_acceptor_variant,,ENST00000355648,NM_001199506.1;PHACTR3,splice_acceptor_variant,,ENST00000361300,NM_183246.1;	T	ENST00000371015	Transcript	splice_acceptor_variant	-/2728	752/1680	251/559				1		1	PHACTR3	HGNC	HGNC:15833	protein_coding	YES	CCDS13480.1	ENSP00000360054	Q96KR7		UPI000006D452	NM_080672.4				5/12																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	74	59773278	59773278	G	T	1	0	0	0	0	0	0	1	0	11900	1014	35	2		2	PHACTR3	20	59773278	Splice_Site	SNP	G	C3N-01405_TP	11097034	59773278	4670889	419	24366											
KCNQ2	0	.	GRCh38	chr20	63414977	63414977	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcggtccccgaagctcCagctcttgggcaccttgctg	4	9	13	15	2	1	0	0	0	1	0	3	1	3	0	4	3	4	5	4	3	1	2	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1451G>A	p.Trp484Ter	p.W484*	ENST00000359125	13/17	371	313	58	235	235	0	strelka-varscan-mutect	KCNQ2,stop_gained,p.Trp466Ter,ENST00000626839,NM_172106.1;KCNQ2,stop_gained,p.Trp484Ter,ENST00000359125,NM_172107.2;KCNQ2,stop_gained,p.Trp456Ter,ENST00000370224,;KCNQ2,stop_gained,p.Trp283Ter,ENST00000637193,;KCNQ2,stop_gained,p.Trp444Ter,ENST00000625514,;KCNQ2,stop_gained,p.Trp456Ter,ENST00000629241,;KCNQ2,stop_gained,p.Trp456Ter,ENST00000360480,NM_004518.4;KCNQ2,stop_gained,p.Trp454Ter,ENST00000344462,NM_172108.3;KCNQ2,stop_gained,p.Trp340Ter,ENST00000357249,;KCNQ2,stop_gained,p.Trp456Ter,ENST00000629676,;KCNQ2,stop_gained,p.Trp171Ter,ENST00000627221,;KCNQ2,stop_gained,p.Trp20Ter,ENST00000629318,;KCNQ2,upstream_gene_variant,,ENST00000636614,;KCNQ2,downstream_gene_variant,,ENST00000635867,;KCNQ2,upstream_gene_variant,,ENST00000636499,;KCNQ2,downstream_gene_variant,,ENST00000637584,;	T	ENST00000359125	Transcript	stop_gained	1578/3253	1451/2619	484/872	W/*	tGg/tAg		1		-1	KCNQ2	HGNC	HGNC:6296	protein_coding	YES	CCDS13520.1	ENSP00000352035	O43526		UPI00001279ED	NM_172107.2			13/17		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF6,Pfam_domain:PF03520																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	74	63414977	63414977	C	T	1	0	0	0	0	0	1	0	0	7999	595	21	3		3	KCNQ2	20	63414977	Nonsense_Mutation	SNP	C	C3N-01405_TP	3641699	63414977	1029190	420	24367											
TPTE	0	.	GRCh38	chr21	10578535	10578535	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagatggtggttttcacCaaggaagtaaatgagtggat	13	11	13	4	0	2	2	2	1	0	1	2	4	2	4	1	4	0	2	1	4	4	3	rs759764021		C3N-01405_TP	C3N-01405_NB	C	C																c.957C>A	p.=	p.T319T	ENST00000618007	17/24	385	345	40	405	405	0	varscan-mutect	TPTE,synonymous_variant,p.=,ENST00000622113,NM_199259.3;TPTE,synonymous_variant,p.=,ENST00000618007,NM_199261.3;TPTE,synonymous_variant,p.=,ENST00000427445,NM_199260.3;TPTE,synonymous_variant,p.=,ENST00000612746,NM_001290224.1;AL078471.5,non_coding_transcript_exon_variant,,ENST00000612267,;CYCSP41,downstream_gene_variant,,ENST00000616920,;	A	ENST00000618007	Transcript	synonymous_variant	1287/2150	957/1656	319/551	T	acC/acA	rs759764021	1		1	TPTE	HGNC	HGNC:12023	protein_coding	YES	CCDS74771.1	ENSP00000484403	P56180		UPI000016A18A	NM_199261.3			17/24		PROSITE_profiles:PS51181,hmmpanther:PTHR12305:SF56,hmmpanther:PTHR12305,Pfam_domain:PF00782,Gene3D:3.90.190.10,Superfamily_domains:SSF52799																	LOW	1	SNV	1			1										PASS		rs759764021	.												A	2	1	74	10578535	10578535	C	A	1	0	0	0	0	0	0	0	1	16911	581	21	2		2	TPTE	21	10578535	Silent	SNP	C	C3N-01405_TP		10578535	36131448	421	24368											
SON	0	.	GRCh38	chr21	33553993	33553993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accctggtgttagtgaagctGatgcaggagaaactctatct	11	11	11	8	0	2	3	0	2	2	1	2	4	2	3	1	2	3	3	1	2	4	2	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.4762G>C	p.Asp1588His	p.D1588H	ENST00000356577	3/12	274	214	60	209	209	0	strelka-varscan-mutect	SON,missense_variant,p.Asp1588His,ENST00000356577,NM_138927.2;SON,missense_variant,p.Asp1588His,ENST00000381679,NM_001291411.1;SON,missense_variant,p.Asp1588His,ENST00000300278,NM_032195.2;SON,missense_variant,p.Asp583His,ENST00000436227,;SON,intron_variant,,ENST00000381692,NM_001291412.1;SON,upstream_gene_variant,,ENST00000421541,;SON,downstream_gene_variant,,ENST00000290239,;SON,missense_variant,p.Asp1588His,ENST00000455528,;	C	ENST00000356577	Transcript	missense_variant	5237/8813	4762/7281	1588/2426	D/H	Gat/Cat		1		1	SON	HGNC	HGNC:11183	protein_coding	YES	CCDS13629.1	ENSP00000348984	P18583		UPI0000140BFD	NM_138927.2	deleterious_low_confidence(0)		3/12		hmmpanther:PTHR23106,hmmpanther:PTHR23106:SF13																	MODERATE	1	SNV	1			1										PASS		rs1326366375	.												C	3	2	74	33553993	33553993	G	C	1	0	0	0	0	1	0	0	0	15248	1290	45	4		4	SON	21	33553993	Missense_Mutation	SNP	G	C3N-01405_TP	22975458	33553993	13155990	422	24369											
KRTAP10-9	0	.	GRCh38	chr21	44627991	44627991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgtcccttctctgccgcCctgtgtgctcccgcccggcc	0	11	11	19	3	1	0	0	0	1	0	4	0	3	0	6	1	2	1	6	1	0	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.820C>A	p.Pro274Thr	p.P274T	ENST00000397911	1/1	211	153	58	135	135	0	strelka-varscan-mutect	KRTAP10-9,missense_variant,p.Pro274Thr,ENST00000397911,NM_198690.2;KRTAP10-9,missense_variant,p.Pro174Thr,ENST00000616529,;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;KRTAP10-9,intron_variant,,ENST00000484861,;	A	ENST00000397911	Transcript	missense_variant	869/1171	820/879	274/292	P/T	Cct/Act		1		1	KRTAP10-9	HGNC	HGNC:22971	protein_coding	YES	CCDS42961.1	ENSP00000381009	P60411		UPI000036709D	NM_198690.2	deleterious(0.01)		1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF72																	MODERATE		SNV				1										PASS		.	.												A	3	1	74	44627991	44627991	C	A	1	0	0	0	0	1	0	0	0	8399	623	22	2		2	KRTAP10-9	21	44627991	Missense_Mutation	SNP	C	C3N-01405_TP	11073998	44627991	2081992	423	24370											
SLC7A4	0	.	GRCh38	chr22	21031518	21031519	+	Frame_Shift_Ins	INS	-	-	G																															aacaggtaggcagagcccgtINSgcgtggcacacgtgccccaa																								novel		C3N-01405_TP	C3N-01405_NB	-	-																c.294dupC	p.Thr99HisfsTer56	p.T99Hfs*56	ENST00000382932	2/5	65	53	12	76	75	1	sindel-varindel	SLC7A4,frameshift_variant,p.Thr99HisfsTer56,ENST00000382932,NM_004173.2;SLC7A4,frameshift_variant,p.Thr99HisfsTer56,ENST00000403586,;P2RX6,downstream_gene_variant,,ENST00000413302,NM_005446.3;P2RX6,downstream_gene_variant,,ENST00000401443,NM_001159554.1;SLC7A4,downstream_gene_variant,,ENST00000426145,;MIR649,downstream_gene_variant,,ENST00000384843,;AC002472.11,intron_variant,,ENST00000450652,;P2RX6P,downstream_gene_variant,,ENST00000439119,;P2RX6,downstream_gene_variant,,ENST00000442475,;P2RX6,downstream_gene_variant,,ENST00000432930,;P2RX6,downstream_gene_variant,,ENST00000422210,;P2RX6,downstream_gene_variant,,ENST00000487342,;	G	ENST00000382932	Transcript	frameshift_variant	362-363/2313	294-295/1908	98-99/635	-/X	-/C		1		-1	SLC7A4	HGNC	HGNC:11062	protein_coding	YES	CCDS33608.1	ENSP00000372390	O43246		UPI0000169EC7	NM_004173.2			2/5		hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF410,Pfam_domain:PF13520																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	74	21031518	21031518	-	G	1	0	1	1	0	0	0	0	0	14982	1696	59	0		0	SLC7A4	22	21031518	Frame_Shift_Ins	INS	-	C3N-01405_TP		21031518	29786950	424	24371	510	2									
SLC7A4	0	.	GRCh38	chr22	21031522	21031522	+	Silent	SNP	T	T	G																															aggtaggcagagcccgtgcgTggcacacgtgccccaaattc																								novel		C3N-01405_TP	C3N-01405_NB	T	T																c.291A>C	p.=	p.P97P	ENST00000382932	2/5	74	63	11	81	81	0	strelka-varscan-mutect	SLC7A4,synonymous_variant,p.=,ENST00000382932,NM_004173.2;SLC7A4,synonymous_variant,p.=,ENST00000403586,;P2RX6,downstream_gene_variant,,ENST00000413302,NM_005446.3;P2RX6,downstream_gene_variant,,ENST00000401443,NM_001159554.1;SLC7A4,downstream_gene_variant,,ENST00000426145,;MIR649,downstream_gene_variant,,ENST00000384843,;AC002472.11,intron_variant,,ENST00000450652,;P2RX6P,downstream_gene_variant,,ENST00000439119,;P2RX6,downstream_gene_variant,,ENST00000442475,;P2RX6,downstream_gene_variant,,ENST00000432930,;P2RX6,downstream_gene_variant,,ENST00000422210,;P2RX6,downstream_gene_variant,,ENST00000487342,;	G	ENST00000382932	Transcript	synonymous_variant	359/2313	291/1908	97/635	P	ccA/ccC		1		-1	SLC7A4	HGNC	HGNC:11062	protein_coding	YES	CCDS33608.1	ENSP00000372390	O43246		UPI0000169EC7	NM_004173.2			2/5		hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF410,Pfam_domain:PF13520																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	74	21031522	21031522	T	G	1	0	0	0	0	0	0	0	1	14982	1683	59	5		5	SLC7A4	22	21031522	Silent	SNP	T	C3N-01405_TP	4	21031522	29786946	425	24372	510	2									
MTMR3	0	.	GRCh38	chr22	30020207	30020207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagttctacagacatgttaGtggaagataaggtgaagtca	15	10	11	5	0	2	3	1	1	1	2	2	4	2	4	0	2	1	2	0	2	5	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.2548G>T	p.Val850Leu	p.V850L	ENST00000401950	17/20	393	299	94	360	360	0	strelka-varscan-mutect	MTMR3,missense_variant,p.Val850Leu,ENST00000333027,NM_153050.2;MTMR3,missense_variant,p.Val850Leu,ENST00000401950,NM_021090.3;MTMR3,missense_variant,p.Val714Leu,ENST00000323630,;MTMR3,missense_variant,p.Val850Leu,ENST00000351488,NM_153051.2;MTMR3,missense_variant,p.Val850Leu,ENST00000406629,;RP3-394A18.1,non_coding_transcript_exon_variant,,ENST00000624945,;HORMAD2-AS1,intron_variant,,ENST00000429350,;HORMAD2-AS1,intron_variant,,ENST00000453743,;MTMR3,upstream_gene_variant,,ENST00000491251,;MTMR3,downstream_gene_variant,,ENST00000492087,;	T	ENST00000401950	Transcript	missense_variant	2890/6018	2548/3597	850/1198	V/L	Gtg/Ttg		1		1	MTMR3	HGNC	HGNC:7451	protein_coding	YES	CCDS13870.1	ENSP00000384651	Q13615		UPI0000073EF2	NM_021090.3	tolerated_low_confidence(0.28)		17/20																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	30020207	30020207	G	T	1	0	0	0	0	1	0	0	0	9932	1029	36	2		2	MTMR3	22	30020207	Missense_Mutation	SNP	G	C3N-01405_TP	8988685	30020207	20798261	426	24373											
KLHDC7B	0	.	GRCh38	chr22	50549462	50549462	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcctggaccccacgcgcGccactccccgcaggcacctt	6	4	10	21	5	0	0	0	0	0	0	1	2	1	1	7	2	0	2	7	2	0	1			C3N-01405_TP	C3N-01405_NB	G	G																c.1296G>T	p.=	p.A432A	ENST00000395676	1/1	132	96	36	112	111	1	strelka-varscan-mutect	KLHDC7B,synonymous_variant,p.=,ENST00000395676,NM_138433.3;SYCE3,downstream_gene_variant,,ENST00000406915,NM_001123225.1;SYCE3,downstream_gene_variant,,ENST00000402753,;CTA-384D8.31,downstream_gene_variant,,ENST00000434237,;	T	ENST00000395676	Transcript	synonymous_variant	1430/2991	1296/1785	432/594	A	gcG/gcT	COSM1130397	1		1	KLHDC7B	HGNC	HGNC:25145	protein_coding	YES	CCDS14097.2	ENSP00000379034	Q96G42		UPI00005A75D4	NM_138433.3			1/1		hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF206,Pfam_domain:PF01344,Gene3D:1zgkA00,SMART_domains:SM00612,Superfamily_domains:0052715											1						LOW		SNV			1	1										PASS		.	.												T	2	4	74	50549462	50549462	G	T	1	0	0	0	0	0	0	0	1	8225	1074	38	1		1	KLHDC7B	22	50549462	Silent	SNP	G	C3N-01405_TP	20529255	50549462	269006	427	24374											
ARSA	0	.	GRCh38	chr22	50626847	50626847	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttacgtgagaggcatagTacaggaagaaggggcgatcc	13	6	14	8	2	0	2	0	1	0	2	1	5	1	3	1	4	2	2	1	4	5	3	novel		C3N-01405_TP	C3N-01405_NB	T	T																c.671A>T	p.Tyr224Phe	p.Y224F	ENST00000216124	3/8	130	93	37	75	75	0	strelka-varscan-mutect	ARSA,missense_variant,p.Tyr224Phe,ENST00000216124,NM_000487.5;ARSA,missense_variant,p.Tyr224Phe,ENST00000395621,NM_001085425.2;ARSA,missense_variant,p.Tyr224Phe,ENST00000356098,NM_001085426.2;ARSA,missense_variant,p.Tyr224Phe,ENST00000395619,NM_001085427.2;ARSA,missense_variant,p.Tyr138Phe,ENST00000453344,NM_001085428.2;ARSA,upstream_gene_variant,,ENST00000610191,;ARSA,non_coding_transcript_exon_variant,,ENST00000551731,;ARSA,upstream_gene_variant,,ENST00000608497,;	A	ENST00000216124	Transcript	missense_variant	1064/2050	671/1530	224/509	Y/F	tAc/tTc		1		-1	ARSA	HGNC	HGNC:713	protein_coding	YES	CCDS14100.2	ENSP00000216124		A0A0C4DFZ2	UPI000013C6C4	NM_000487.5	deleterious(0.01)		3/8		Gene3D:3.40.720.10,Pfam_domain:PF00884,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF229,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		rs1189586905	.												A	3	1	74	50626847	50626847	T	A	1	0	0	0	0	1	0	0	0	1130	1638	57	4		4	ARSA	22	50626847	Missense_Mutation	SNP	T	C3N-01405_TP	77385	50626847	191621	428	24375											
SHOX	0	.	GRCh38	chrX	644450	644450	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacccgcacctgcacccgcaCctggcggcgcacgcgcccta	6	3	10	22	6	0	0	0	0	0	0	0	0	0	0	5	2	1	4	5	2	1	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.693C>A	p.His231Gln	p.H231Q	ENST00000381578	6/6	291	237	54	261	261	0	strelka-varscan-mutect	SHOX,missense_variant,p.His231Gln,ENST00000381578,NM_000451.3;SHOX,missense_variant,p.His231Gln,ENST00000554971,;SHOX,intron_variant,,ENST00000334060,NM_006883.2;SHOX,intron_variant,,ENST00000381575,;	A	ENST00000381578	Transcript	missense_variant	1384/3757	693/879	231/292	H/Q	caC/caA		1		1	SHOX	HGNC	HGNC:10853	protein_coding	YES	CCDS14107.1	ENSP00000370990	O15266	A0A024R385	UPI0000053471	NM_000451.3	tolerated(0.14)		6/6		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF290,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	74	644450	644450	C	A	1	0	0	0	0	1	0	0	0	14551	506	18	2		2	SHOX	23	644450	Missense_Mutation	SNP	C	C3N-01405_TP		644450	155396445	429	24376											
ARSF	0	.	GRCh38	chrX	3084452	3084452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctcaccctaacctttGggaagctgagcggctgggtc	7	9	11	14	1	1	1	1	1	0	0	3	2	2	2	4	3	3	2	4	3	2	2			C3N-01405_TP	C3N-01405_NB	G	G																c.616G>T	p.Gly206Trp	p.G206W	ENST00000381127	6/11	162	120	42	146	146	0	strelka-varscan-mutect	ARSF,missense_variant,p.Gly206Trp,ENST00000381127,NM_001201538.1,NM_001201539.1;ARSF,missense_variant,p.Gly206Trp,ENST00000359361,NM_004042.4;	T	ENST00000381127	Transcript	missense_variant	837/2164	616/1773	206/590	G/W	Ggg/Tgg	COSM5596300	1		1	ARSF	HGNC	HGNC:721	protein_coding	YES	CCDS14123.1	ENSP00000370519	P54793		UPI00001A9629	NM_001201538.1,NM_001201539.1	tolerated(0.18)		6/11		hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF220,Pfam_domain:PF00884,Superfamily_domains:SSF53649											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	74	3084452	3084452	G	T	1	0	0	0	0	1	0	0	0	1134	1348	47	2		2	ARSF	23	3084452	Missense_Mutation	SNP	G	C3N-01405_TP	2440002	3084452	152956443	430	24377											
BCOR	0	.	GRCh38	chrX	40062370	40062370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgaactgggctccggccgCtttctgaatctccggacagt	6	10	11	14	4	2	1	0	1	2	0	5	3	4	2	4	3	1	2	4	3	2	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.4197G>T	p.Lys1399Asn	p.K1399N	ENST00000378444	10/15	232	174	58	195	195	0	strelka-varscan-mutect	BCOR,missense_variant,p.Lys1365Asn,ENST00000342274,NM_001123383.1;BCOR,missense_variant,p.Lys1399Asn,ENST00000378444,NM_001123385.1;BCOR,missense_variant,p.Lys1347Asn,ENST00000378455,NM_001123384.1;BCOR,missense_variant,p.Lys1365Asn,ENST00000397354,NM_017745.5;BCOR,missense_variant,p.Lys242Asn,ENST00000378463,;BCOR,missense_variant,p.Lys72Asn,ENST00000442018,;BCOR,missense_variant,p.Lys94Asn,ENST00000427012,;BCOR,missense_variant,p.Lys269Asn,ENST00000413905,;BCOR,downstream_gene_variant,,ENST00000406200,;	A	ENST00000378444	Transcript	missense_variant	4426/6358	4197/5268	1399/1755	K/N	aaG/aaT		1		-1	BCOR	HGNC	HGNC:20893	protein_coding	YES	CCDS48093.1	ENSP00000367705	Q6W2J9		UPI00002318CF	NM_001123385.1	deleterious(0.02)		10/15		hmmpanther:PTHR24117:SF8,hmmpanther:PTHR24117,Pfam_domain:PF15808																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	40062370	40062370	C	A	1	0	0	0	0	1	0	0	0	1533	796	28	2		2	BCOR	23	40062370	Missense_Mutation	SNP	C	C3N-01405_TP	36977918	40062370	115978525	431	24378											
KDM5C	0	.	GRCh38	chrX	53192776	53192776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagactccaggggccggccCccaggagctgaggtctgaac	9	4	15	13	1	1	3	0	2	1	1	2	5	2	4	4	5	2	1	4	5	2	0	rs782299839		C3N-01405_TP	C3N-01405_NB	C	C																c.4108G>T	p.Gly1370Trp	p.G1370W	ENST00000452825	24/24	22	13	9	13	13	0	strelka-varscan-mutect	KDM5C,missense_variant,p.Gly1370Trp,ENST00000452825,NM_001146702.1;KDM5C,3_prime_UTR_variant,,ENST00000375401,NM_004187.3;KDM5C,3_prime_UTR_variant,,ENST00000404049,NM_001282622.1;KDM5C,downstream_gene_variant,,ENST00000375379,;KDM5C,downstream_gene_variant,,ENST00000375383,;MIR6895,downstream_gene_variant,,ENST00000613497,;KDM5C,downstream_gene_variant,,ENST00000477109,;	A	ENST00000452825	Transcript	missense_variant	4641/6096	4108/4140	1370/1379	G/W	Ggg/Tgg	rs782299839	1		-1	KDM5C	HGNC	HGNC:11114	protein_coding		CCDS55417.1	ENSP00000445176	P41229		UPI000199A537	NM_001146702.1	deleterious_low_confidence(0.02)		24/24																			MODERATE		SNV	5			1										PASS		rs782299839	.												A	3	1	74	53192776	53192776	C	A	1	0	0	0	0	1	0	0	0	8053	623	22	2		2	KDM5C	23	53192776	Missense_Mutation	SNP	C	C3N-01405_TP	13130406	53192776	102848119	432	24379											
NONO	0	.	GRCh38	chrX	71294421	71294421	+	Frame_Shift_Del	DEL	G	G	-																															gagagggctgtagtcattgtGgatgatcgaggaaggccctc																								rs776947124		C3N-01405_TP	C3N-01405_NB	G	G																c.544delG	p.Asp182MetfsTer34	p.D182Mfs*34	ENST00000276079	5/12	145	112	33	163	163	0	sindel-pindel	NONO,frameshift_variant,p.Asp93MetfsTer34,ENST00000535149,NM_001145410.1;NONO,frameshift_variant,p.Asp182MetfsTer34,ENST00000276079,NM_007363.4;NONO,frameshift_variant,p.Asp182MetfsTer34,ENST00000373841,NM_001145409.1;NONO,frameshift_variant,p.Asp182MetfsTer34,ENST00000373856,NM_001145408.1;NONO,frameshift_variant,p.Asp182MetfsTer?,ENST00000454976,;NONO,frameshift_variant,p.Asp44MetfsTer34,ENST00000418921,;NONO,intron_variant,,ENST00000413858,;NONO,downstream_gene_variant,,ENST00000420903,;NONO,downstream_gene_variant,,ENST00000450092,;NONO,non_coding_transcript_exon_variant,,ENST00000490044,;NONO,non_coding_transcript_exon_variant,,ENST00000471419,;NONO,intron_variant,,ENST00000474431,;NONO,intron_variant,,ENST00000472185,;NONO,upstream_gene_variant,,ENST00000473525,;NONO,downstream_gene_variant,,ENST00000486613,;	-	ENST00000276079	Transcript	frameshift_variant	748/2713	543/1416	181/471	V/X	gtG/gt	rs776947124	1		1	NONO	HGNC	HGNC:7871	protein_coding	YES	CCDS14410.1	ENSP00000276079	Q15233	A0A0S2Z4Z9	UPI000002EFDD	NM_007363.4			5/12		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF15,SMART_domains:SM00360,Superfamily_domains:SSF54928																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	74	71294421	71294421	G	-	1	0	1	0	1	0	0	0	0	10578	1335	47	0		0	NONO	23	71294421	Frame_Shift_Del	DEL	G	C3N-01405_TP	18101645	71294421	84746474	433	24380											
GPR174	0	.	GRCh38	chrX	79171716	79171716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgattctaacctgtgcaGgggtattcctaatttgcttt	9	16	9	7	0	1	2	0	1	1	1	2	2	2	2	2	2	3	3	2	2	3	7	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.709G>A	p.Gly237Arg	p.G237R	ENST00000276077	1/1	119	88	31	107	107	0	strelka-varscan-mutect	GPR174,missense_variant,p.Gly237Arg,ENST00000276077,NM_032553.1;	A	ENST00000276077	Transcript	missense_variant	745/1258	709/1002	237/333	G/R	Ggg/Agg		1		1	GPR174	HGNC	HGNC:30245	protein_coding	YES	CCDS14443.1	ENSP00000276077	Q9BXC1		UPI0000050477	NM_032553.1	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF4,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1467607894	.												A	3	1	74	79171716	79171716	G	A	1	0	0	0	0	1	0	0	0	6556	1000	35	3		3	GPR174	23	79171716	Missense_Mutation	SNP	G	C3N-01405_TP	7877295	79171716	76869179	434	24381											
GPR174	0	.	GRCh38	chrX	79171909	79171909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccactaatgagttccgaaGacggctttcaagacaagatt	13	11	8	9	2	1	4	1	1	0	3	3	5	3	4	2	1	0	2	2	1	4	5			C3N-01405_TP	C3N-01405_NB	G	G																c.902G>T	p.Arg301Ile	p.R301I	ENST00000276077	1/1	65	50	15	51	50	1	strelka-varscan-mutect	GPR174,missense_variant,p.Arg301Ile,ENST00000276077,NM_032553.1;	T	ENST00000276077	Transcript	missense_variant	938/1258	902/1002	301/333	R/I	aGa/aTa	COSM488659	1		1	GPR174	HGNC	HGNC:30245	protein_coding	YES	CCDS14443.1	ENSP00000276077	Q9BXC1		UPI0000050477	NM_032553.1	tolerated(0.08)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF4,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	74	79171909	79171909	G	T	1	0	0	0	0	1	0	0	0	6556	942	33	2		2	GPR174	23	79171909	Missense_Mutation	SNP	G	C3N-01405_TP	193	79171909	76868986	435	24382											
POF1B	0	.	GRCh38	chrX	85303457	85303457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagggttggttatgagagGaatatatttcttgccgcaac	10	13	13	5	1	1	1	0	1	1	1	1	4	1	3	1	4	2	3	1	4	5	6	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1598C>A	p.Ser533Tyr	p.S533Y	ENST00000373145	15/16	85	58	27	101	100	1	strelka-varscan-mutect	POF1B,missense_variant,p.Ser533Tyr,ENST00000262753,NM_024921.3;POF1B,missense_variant,p.Ser533Tyr,ENST00000373145,NM_001307940.1;	T	ENST00000373145	Transcript	missense_variant	1718/1972	1598/1788	533/595	S/Y	tCc/tAc		1		-1	POF1B	HGNC	HGNC:13711	protein_coding	YES	CCDS78497.1	ENSP00000362238	Q8WVV4		UPI00001AE9F1	NM_001307940.1	deleterious_low_confidence(0)		15/16		hmmpanther:PTHR22546																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	85303457	85303457	G	T	1	0	0	0	0	1	0	0	0	12291	1174	41	2		2	POF1B	23	85303457	Missense_Mutation	SNP	G	C3N-01405_TP	6131548	85303457	70737438	436	24383											
PCDH11X	0	.	GRCh38	chrX	91877114	91877114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctctttcagcaatctaGtctccaacattgccaggaga	11	12	6	12	0	4	1	1	0	3	1	6	2	4	1	2	1	3	1	2	1	3	4	rs6618811		C3N-01405_TP	C3N-01405_NB	G	G																c.874G>T	p.Val292Phe	p.V292F	ENST00000373094	2/7	59	45	14	40	40	0	strelka-varscan-mutect	PCDH11X,missense_variant,p.Val292Phe,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Val292Phe,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Val292Phe,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Val292Phe,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Val292Phe,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Val292Phe,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Val292Phe,ENST00000395337,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000298274,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000361724,;	T	ENST00000373094	Transcript	missense_variant	1719/9179	874/4044	292/1347	V/F	Gtc/Ttc	rs6618811	1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4	deleterious(0)		2/7		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF25,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs6618811	.												T	3	4	74	91877114	91877114	G	T	1	0	0	0	0	1	0	0	0	11595	1029	36	2		2	PCDH11X	23	91877114	Missense_Mutation	SNP	G	C3N-01405_TP	6573657	91877114	64163781	437	24384											
TMEM35A	0	.	GRCh38	chrX	101094605	101094605	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagctatgttcgagccctCcctctgctgaagaaaatggg	11	9	11	10	1	1	3	0	1	1	2	3	4	2	3	2	1	3	3	2	1	5	2	rs748303170		C3N-01405_TP	C3N-01405_NB	C	C																c.153C>A	p.=	p.L51L	ENST00000372930	2/2	46	38	8	48	48	0	strelka-varscan-mutect	TMEM35A,synonymous_variant,p.=,ENST00000372930,NM_021637.2;CENPI,upstream_gene_variant,,ENST00000403304,;CENPI,upstream_gene_variant,,ENST00000435570,;TRMT2B-AS1,upstream_gene_variant,,ENST00000443801,;TMEM35A,non_coding_transcript_exon_variant,,ENST00000478351,;	A	ENST00000372930	Transcript	synonymous_variant	436/2195	153/504	51/167	L	ctC/ctA	rs748303170	1		1	TMEM35A	HGNC	HGNC:25864	protein_coding	YES	CCDS14478.1	ENSP00000362021	Q53FP2		UPI0000035FFB	NM_021637.2			2/2		Pfam_domain:PF13564,hmmpanther:PTHR13163,hmmpanther:PTHR13163:SF0																	LOW	1	SNV	1			1										PASS		rs748303170	.												A	2	1	74	101094605	101094605	C	A	1	0	0	0	0	0	0	0	1	16633	842	30	2		2	TMEM35A	23	101094605	Silent	SNP	C	C3N-01405_TP	9217491	101094605	54946290	438	24385											
ESX1	0	.	GRCh38	chrX	104250738	104250738	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctaggtagttgtggcacCagatgaacacacaaagcagg	13	7	13	8	0	1	2	0	1	1	1	1	2	1	2	1	4	2	4	1	4	4	3	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.711G>T	p.=	p.L237L	ENST00000372588	4/4	139	104	35	127	127	0	strelka-varscan-mutect	ESX1,synonymous_variant,p.=,ENST00000372588,NM_153448.3;	A	ENST00000372588	Transcript	synonymous_variant	795/1495	711/1221	237/406	L	ctG/ctT		1		-1	ESX1	HGNC	HGNC:14865	protein_coding	YES	CCDS14516.1	ENSP00000361669	Q8N693		UPI0000073D09	NM_153448.3			4/4		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	104250738	104250738	C	A	1	0	0	0	0	0	0	0	1	5125	581	21	2		2	ESX1	23	104250738	Silent	SNP	C	C3N-01405_TP	3156133	104250738	51790157	439	24386											
PAK3	0	.	GRCh38	chrX	111194311	111194311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgttatagctacttggtgGgtgatgaactatgggtagtc	8	15	13	5	0	0	2	0	2	0	0	1	2	0	2	0	3	3	3	0	3	6	7	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1111G>T	p.Gly371Cys	p.G371C	ENST00000360648	12/16	178	138	40	189	189	0	strelka-varscan-mutect	PAK3,missense_variant,p.Gly335Cys,ENST00000372007,NM_001324327.1,NM_001324326.1,NM_001324331.1,NM_001324333.1,NM_001324332.1,NM_001324334.1,NM_001324328.1,NM_001324330.1,NM_001324325.1,NM_002578.3;PAK3,missense_variant,p.Gly356Cys,ENST00000519681,;PAK3,missense_variant,p.Gly350Cys,ENST00000372010,;PAK3,missense_variant,p.Gly335Cys,ENST00000446737,NM_001128166.1;PAK3,missense_variant,p.Gly335Cys,ENST00000425146,NM_001128167.1;PAK3,missense_variant,p.Gly371Cys,ENST00000360648,NM_001128168.1;PAK3,missense_variant,p.Gly356Cys,ENST00000417227,NM_001128172.1;PAK3,missense_variant,p.Gly350Cys,ENST00000262836,NM_001128173.1;PAK3,missense_variant,p.Gly334Cys,ENST00000620137,;PAK3,missense_variant,p.Gly371Cys,ENST00000518291,;	T	ENST00000360648	Transcript	missense_variant	1138/2241	1111/1743	371/580	G/C	Ggt/Tgt		1		1	PAK3	HGNC	HGNC:8592	protein_coding	YES	CCDS48151.1	ENSP00000353864	O75914		UPI0000D61DBC	NM_001128168.1	deleterious(0.02)		12/16		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF250,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	74	111194311	111194311	G	T	1	0	0	0	0	1	0	0	0	11482	1232	43	2		2	PAK3	23	111194311	Missense_Mutation	SNP	G	C3N-01405_TP	6943573	111194311	44846584	440	24387											
RBMXL3	0	.	GRCh38	chrX	115190145	115190145	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggcaagatggctactCaggcccgcgggtccgggagc	6	5	19	11	3	1	1	1	0	0	1	2	2	2	2	2	6	2	2	2	6	2	1	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.704C>A	p.Ser235Ter	p.S235*	ENST00000424776	1/1	39	27	12	36	36	0	strelka-varscan-mutect	RBMXL3,stop_gained,p.Ser235Ter,ENST00000424776,NM_001145346.1;LRCH2,intron_variant,,ENST00000317135,NM_020871.3;LRCH2,intron_variant,,ENST00000538422,NM_001243963.1;	A	ENST00000424776	Transcript	stop_gained	719/3442	704/3204	235/1067	S/*	tCa/tAa		1		1	RBMXL3	HGNC	HGNC:26859	protein_coding	YES	CCDS55478.1	ENSP00000417451	Q8N7X1		UPI0001932819	NM_001145346.1			1/1																			HIGH		SNV				1										PASS		.	.												A	4	1	74	115190145	115190145	C	A	1	0	0	0	0	0	1	0	0	13321	838	29	2		2	RBMXL3	23	115190145	Nonsense_Mutation	SNP	C	C3N-01405_TP	3995834	115190145	40850750	441	24388											
IL13RA1	0	.	GRCh38	chrX	118741055	118741055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatttgagtgtctctgttGaaaacctctgcacagtaata	13	13	7	8	0	2	2	0	2	2	0	3	2	2	2	1	0	2	3	1	0	5	4	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.127G>A	p.Glu43Lys	p.E43K	ENST00000371666	2/11	123	94	29	129	129	0	strelka-varscan-mutect	IL13RA1,missense_variant,p.Glu43Lys,ENST00000371666,NM_001560.2;IL13RA1,missense_variant,p.Glu43Lys,ENST00000371642,;SNORA35,downstream_gene_variant,,ENST00000458908,;	A	ENST00000371666	Transcript	missense_variant	194/4036	127/1284	43/427	E/K	Gaa/Aaa		1		1	IL13RA1	HGNC	HGNC:5974	protein_coding	YES	CCDS14573.1	ENSP00000360730	P78552		UPI0000000CA3	NM_001560.2	tolerated(0.21)		2/11		PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF89																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	74	118741055	118741055	G	A	1	0	0	0	0	1	0	0	0	7537	1291	45	3		3	IL13RA1	23	118741055	Missense_Mutation	SNP	G	C3N-01405_TP	3550910	118741055	37299840	442	24389											
GLUD2	0	.	GRCh38	chrX	121048773	121048773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccattctgggcttccccaaGgcaaagccctatgaaggaag	11	8	10	12	0	1	1	0	1	1	0	3	2	3	2	4	3	1	2	4	3	5	3	novel		C3N-01405_TP	C3N-01405_NB	G	G																c.1089G>T	p.Lys363Asn	p.K363N	ENST00000328078	1/1	216	152	64	218	218	0	strelka-varscan-mutect	GLUD2,missense_variant,p.Lys363Asn,ENST00000328078,NM_012084.3;	T	ENST00000328078	Transcript	missense_variant	1186/2493	1089/1677	363/558	K/N	aaG/aaT		1		1	GLUD2	HGNC	HGNC:4336	protein_coding	YES	CCDS14603.1	ENSP00000327589	P49448	A0A140VK14	UPI0000129301	NM_012084.3	tolerated(1)		1/1		Gene3D:3.40.50.720,Pfam_domain:PF00208,hmmpanther:PTHR11606,hmmpanther:PTHR11606:SF15,SMART_domains:SM00839,Superfamily_domains:SSF51735																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	74	121048773	121048773	G	T	1	0	0	0	0	1	0	0	0	6354	991	35	2		2	GLUD2	23	121048773	Missense_Mutation	SNP	G	C3N-01405_TP	2307718	121048773	34992122	443	24390											
GPR119	0	.	GRCh38	chrX	130385266	130385266	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagagctggtctgtgagtAggccagagatggccacacca	10	7	15	9	0	1	3	0	1	1	2	1	5	1	3	3	4	1	2	3	4	1	1	novel		C3N-01405_TP	C3N-01405_NB	A	A																c.182T>G	p.Leu61Arg	p.L61R	ENST00000276218	1/1	86	60	26	77	77	0	strelka-varscan-mutect	GPR119,missense_variant,p.Leu61Arg,ENST00000276218,NM_178471.2;	C	ENST00000276218	Transcript	missense_variant	182/1008	182/1008	61/335	L/R	cTa/cGa		1		-1	GPR119	HGNC	HGNC:19060	protein_coding	YES	CCDS14625.1	ENSP00000276218	Q8TDV5		UPI000003AFD2	NM_178471.2	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF7,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	74	130385266	130385266	A	C	1	0	0	0	0	1	0	0	0	6527	420	15	5		5	GPR119	23	130385266	Missense_Mutation	SNP	A	C3N-01405_TP	9336493	130385266	25655629	444	24391											
CT45A10	0	.	GRCh38	chrX	135883144	135883144	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggtaacgtttcctccCacaggtgcattgctaccagg	7	12	10	12	1	0	0	0	0	0	0	2	0	2	0	3	3	5	5	3	3	2	5			C3N-01405_TP	C3N-01405_NB	C	C																c.282G>T	p.=	p.V94V	ENST00000611668	3/5	209	157	52	215	215	0	strelka-varscan-mutect	CT45A10,synonymous_variant,p.=,ENST00000611668,NM_001291527.1,NM_001291528.1;CT45A10,synonymous_variant,p.=,ENST00000617981,NM_001291529.1,NM_001291530.1;	A	ENST00000611668	Transcript	synonymous_variant	527/1010	282/570	94/189	V	gtG/gtT	COSM3231111	1		-1	CT45A10	HGNC	HGNC:51263	protein_coding	YES	CCDS76035.1	ENSP00000484601	P0DMU9		UPI00002125B4	NM_001291527.1,NM_001291528.1			3/5		hmmpanther:PTHR12957,hmmpanther:PTHR12957:SF8											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	74	135883144	135883144	C	A	1	0	0	0	0	0	0	0	1	3789	581	21	2		2	CT45A10	23	135883144	Silent	SNP	C	C3N-01405_TP	5497878	135883144	20157751	445	24392											
MCF2	0	.	GRCh38	chrX	139604977	139604977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggattatccatctccgctCtataaccctacccaaaataa	13	11	3	14	1	2	0	0	0	2	0	4	1	3	1	4	1	2	1	4	1	7	5	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.1793G>A	p.Arg598Lys	p.R598K	ENST00000519895	18/29	37	23	14	40	40	0	strelka-mutect	MCF2,missense_variant,p.Arg582Lys,ENST00000520602,;MCF2,missense_variant,p.Arg582Lys,ENST00000414978,NM_001099855.1;MCF2,missense_variant,p.Arg522Lys,ENST00000370576,NM_005369.4;MCF2,missense_variant,p.Arg483Lys,ENST00000536274,NM_001171877.1;MCF2,missense_variant,p.Arg598Lys,ENST00000519895,NM_001171876.1;MCF2,missense_variant,p.Arg538Lys,ENST00000338585,NM_001171879.1;MCF2,missense_variant,p.Arg522Lys,ENST00000370573,NM_001171878.1;MCF2,missense_variant,p.Arg26Lys,ENST00000437564,;MCF2,missense_variant,p.Arg125Lys,ENST00000446225,;MCF2,downstream_gene_variant,,ENST00000483690,;	T	ENST00000519895	Transcript	missense_variant	1959/3346	1793/3006	598/1001	R/K	aGa/aAa		1		-1	MCF2	HGNC	HGNC:6940	protein_coding	YES	CCDS55517.1	ENSP00000430276	P10911		UPI0001C33995	NM_001171876.1	tolerated(0.59)		18/29		PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF138,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	74	139604977	139604977	C	T	1	0	0	0	0	1	0	0	0	9309	913	32	3		3	MCF2	23	139604977	Missense_Mutation	SNP	C	C3N-01405_TP	3721833	139604977	16435918	446	24393											
ATP2B3	0	.	GRCh38	chrX	153562164	153562164	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagtttggcgggaagccCttcagctgctccccactatc	6	10	10	15	1	1	0	1	0	0	0	4	1	3	1	4	2	3	3	4	2	2	3	novel		C3N-01405_TP	C3N-01405_NB	C	C																c.3081C>A	p.=	p.P1027P	ENST00000263519	18/20	115	86	29	105	105	0	strelka-varscan-mutect	ATP2B3,synonymous_variant,p.=,ENST00000370186,;ATP2B3,synonymous_variant,p.=,ENST00000263519,NM_001001344.2;ATP2B3,synonymous_variant,p.=,ENST00000349466,;ATP2B3,synonymous_variant,p.=,ENST00000359149,NM_021949.3;ATP2B3,synonymous_variant,p.=,ENST00000393842,;ATP2B3,downstream_gene_variant,,ENST00000460549,;	A	ENST00000263519	Transcript	synonymous_variant	3207/6420	3081/3663	1027/1220	P	ccC/ccA		1		1	ATP2B3	HGNC	HGNC:816	protein_coding	YES	CCDS35440.1	ENSP00000263519	Q16720		UPI00001AE881	NM_001001344.2			18/20		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF284,Gene3D:1.20.1110.10,TIGRFAM_domain:TIGR01517,Pfam_domain:PF00689,Superfamily_domains:0049473																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	74	153562164	153562164	C	A	1	0	0	0	0	0	0	0	1	1294	668	24	2		2	ATP2B3	23	153562164	Silent	SNP	C	C3N-01405_TP	13957187	153562164	2478731	447	24394											
PRAMEF1	0	.	GRCh38	chr1	12794462	12794462	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaaaataaaattgatcaccTtcttcagtgggcacctggaa	14	12	7	8	0	3	1	2	1	1	0	3	2	3	2	2	2	0	1	2	2	5	5	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.835T>G	p.Phe279Val	p.F279V	ENST00000332296	3/4	317	281	36	390	390	0	strelka-varscan-mutect	PRAMEF1,missense_variant,p.Phe279Val,ENST00000332296,NM_001291380.1,NM_023013.4;PRAMEF1,upstream_gene_variant,,ENST00000400814,;	G	ENST00000332296	Transcript	missense_variant	938/2160	835/1425	279/474	F/V	Ttc/Gtc		1		1	PRAMEF1	HGNC	HGNC:28840	protein_coding	YES	CCDS148.1	ENSP00000332134	O95521		UPI0004620BB8	NM_001291380.1,NM_023013.4	deleterious(0.01)		3/4		Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF2,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	75	12794462	12794462	T	G	1	0	0	0	0	1	0	0	0	12554	1609	56	5		5	PRAMEF1	1	12794462	Missense_Mutation	SNP	T	C3N-01410_TP		12794462	236161960	1	24395											
FHAD1	0	.	GRCh38	chr1	15381423	15381423	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagaggagctgttgagaGgatatgaaaaggacgttgaa	16	7	16	2	1	0	4	0	3	0	2	0	9	0	8	0	4	1	3	0	4	5	3	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.3928G>T	p.Gly1310Ter	p.G1310*	ENST00000358897	29/31	222	142	80	229	229	0	strelka-varscan-mutect	FHAD1,stop_gained,p.Gly1310Ter,ENST00000358897,NM_052929.1;FHAD1,stop_gained,p.Gly1310Ter,ENST00000375998,;FHAD1,stop_gained,p.Gly629Ter,ENST00000444385,;FHAD1,stop_gained,p.Gly545Ter,ENST00000314668,;FHAD1,stop_gained,p.Gly581Ter,ENST00000529606,;FHAD1,non_coding_transcript_exon_variant,,ENST00000471347,;FHAD1,non_coding_transcript_exon_variant,,ENST00000477846,;FHAD1,non_coding_transcript_exon_variant,,ENST00000495195,;FHAD1,upstream_gene_variant,,ENST00000472086,;FHAD1,stop_gained,p.Gly327Ter,ENST00000481324,;	T	ENST00000358897	Transcript	stop_gained	4066/5090	3928/4239	1310/1412	G/*	Gga/Tga		1		1	FHAD1	HGNC	HGNC:29408	protein_coding	YES		ENSP00000351770	B1AJZ9		UPI0001761703	NM_052929.1			29/31		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18853,hmmpanther:PTHR18853:SF7																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	75	15381423	15381423	G	T	1	0	0	0	0	0	1	0	0	5740	1001	35	2		2	FHAD1	1	15381423	Nonsense_Mutation	SNP	G	C3N-01410_TP	2586961	15381423	233574999	2	24396											
SPEN	0	.	GRCh38	chr1	15929284	15929284	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggaggatgctcgcgtgcTttcaaaaaagcagcctgacg	11	8	13	9	3	1	1	1	1	0	0	2	4	1	3	1	2	4	3	1	2	3	1	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.3044T>A	p.Leu1015His	p.L1015H	ENST00000375759	11/15	180	150	30	208	208	0	strelka-varscan-mutect	SPEN,missense_variant,p.Leu1015His,ENST00000375759,NM_015001.2;	A	ENST00000375759	Transcript	missense_variant	3248/12232	3044/10995	1015/3664	L/H	cTt/cAt		1		1	SPEN	HGNC	HGNC:17575	protein_coding	YES	CCDS164.1	ENSP00000364912	Q96T58		UPI000006FF0C	NM_015001.2	tolerated(0.19)		11/15		hmmpanther:PTHR23189:SF48,hmmpanther:PTHR23189																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	15929284	15929284	T	A	1	0	0	0	0	1	0	0	0	15389	1609	56	4		4	SPEN	1	15929284	Missense_Mutation	SNP	T	C3N-01410_TP	547861	15929284	233027138	3	24397											
SNRNP40	0	.	GRCh38	chr1	31293267	31293267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaggtggatccgttggggtGgaacttgcagcagtagactt	9	11	15	6	1	0	1	0	0	0	1	1	3	1	3	1	5	3	4	1	5	3	5	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.223C>T	p.His75Tyr	p.H75Y	ENST00000263694	2/10	206	127	79	223	222	1	strelka-varscan-mutect	SNRNP40,missense_variant,p.His75Tyr,ENST00000263694,NM_004814.2;ZCCHC17,upstream_gene_variant,,ENST00000373714,NM_001282568.1;ZCCHC17,upstream_gene_variant,,ENST00000546109,NM_001282569.1;ZCCHC17,upstream_gene_variant,,ENST00000615916,NM_001282566.1;ZCCHC17,upstream_gene_variant,,ENST00000344147,NM_016505.3;ZCCHC17,upstream_gene_variant,,ENST00000616393,NM_001282571.1;ZCCHC17,upstream_gene_variant,,ENST00000618216,NM_001282572.1,NM_001282574.1;ZCCHC17,upstream_gene_variant,,ENST00000616859,NM_001282573.1;ZCCHC17,upstream_gene_variant,,ENST00000627541,NM_001282570.1,NM_001282567.1;SNRNP40,non_coding_transcript_exon_variant,,ENST00000463988,;ZCCHC17,upstream_gene_variant,,ENST00000479629,;SNRNP40,upstream_gene_variant,,ENST00000474025,;	A	ENST00000263694	Transcript	missense_variant	242/1597	223/1074	75/357	H/Y	Cac/Tac		1		-1	SNRNP40	HGNC	HGNC:30857	protein_coding	YES	CCDS340.1	ENSP00000263694	Q96DI7	A0MNP2	UPI000006FD38	NM_004814.2	tolerated(0.1)		2/10		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF501,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	31293267	31293267	G	A	1	0	0	0	0	1	0	0	0	15176	1348	47	3		3	SNRNP40	1	31293267	Missense_Mutation	SNP	G	C3N-01410_TP	15363983	31293267	217663155	4	24398											
SFPQ	0	.	GRCh38	chr1	35190883	35190883	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaaacataaggtgaaagaTtacgaacagaaagggcagca	19	5	12	5	1	0	3	0	1	0	2	0	5	0	4	0	3	4	2	0	3	6	2			C3N-01410_TP	C3N-01410_NB	T	T																c.1130A>G	p.Asn377Ser	p.N377S	ENST00000357214	3/10	320	261	59	348	348	0	strelka-varscan-mutect	SFPQ,missense_variant,p.Asn377Ser,ENST00000357214,NM_005066.2;SFPQ,upstream_gene_variant,,ENST00000470472,;SFPQ,upstream_gene_variant,,ENST00000460428,;	C	ENST00000357214	Transcript	missense_variant	1229/3747	1130/2124	377/707	N/S	aAt/aGt	COSM5443485	1		-1	SFPQ	HGNC	HGNC:10774	protein_coding	YES	CCDS388.1	ENSP00000349748	P23246		UPI00001358B9	NM_005066.2	deleterious(0.01)		3/10		PROSITE_profiles:PS50102,hmmpanther:PTHR23189:SF42,hmmpanther:PTHR23189,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928											1						MODERATE	1	SNV	1		1	1										PASS		rs1324288871	.												C	3	2	75	35190883	35190883	T	C	1	0	0	0	0	1	0	0	0	14438	1493	52	5		5	SFPQ	1	35190883	Missense_Mutation	SNP	T	C3N-01410_TP	3897616	35190883	213765539	5	24399											
FOXD2	0	.	GRCh38	chr1	47438583	47438583	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccccaagaagcggctgacgTtgagcgagatctgcgagttc	9	7	14	11	4	1	4	0	2	1	2	2	6	1	4	2	1	3	3	2	1	2	2			C3N-01410_TP	C3N-01410_NB	T	T																c.448T>C	p.=	p.L150L	ENST00000334793	1/1	422	304	118	345	345	0	strelka-varscan-mutect	FOXD2,synonymous_variant,p.=,ENST00000334793,NM_004474.3;FOXD2-AS1,upstream_gene_variant,,ENST00000445551,;	C	ENST00000334793	Transcript	synonymous_variant	2567/4675	448/1488	150/495	L	Ttg/Ctg	COSM681859	1		1	FOXD2	HGNC	HGNC:3803	protein_coding	YES	CCDS30708.1	ENSP00000335493	O60548		UPI000014153E	NM_004474.3			1/1		Gene3D:1.10.10.10,Pfam_domain:PF00250,Prints_domain:PR00053,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF168,SMART_domains:SM00339,Superfamily_domains:SSF46785											1						LOW	1	SNV			1	1										PASS		rs930070272	.												C	2	2	75	47438583	47438583	T	C	1	0	0	0	0	0	0	0	1	5857	1722	60	5		5	FOXD2	1	47438583	Silent	SNP	T	C3N-01410_TP	12247700	47438583	201517839	6	24400											
COL11A1	0	.	GRCh38	chr1	102962652	102962652	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttttctgaagcatgttgtaCctttgcaccttcttttcctg	5	19	7	10	0	2	1	0	1	2	0	3	1	3	1	3	0	3	5	3	0	2	8	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.3024+1G>T		p.X1008_splice	ENST00000370096		228	152	76	340	340	0	strelka-varscan-mutect	COL11A1,splice_donor_variant,,ENST00000358392,NM_080629.2;COL11A1,splice_donor_variant,,ENST00000370096,NM_001854.3;COL11A1,splice_donor_variant,,ENST00000353414,NM_001190709.1;COL11A1,splice_donor_variant,,ENST00000512756,NM_080630.3;COL11A1,splice_donor_variant,,ENST00000635193,;COL11A1,splice_donor_variant,,ENST00000465209,;	A	ENST00000370096	Transcript	splice_donor_variant	-/7286	3024/5421	1008/1806				1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3				39/66																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	75	102962652	102962652	C	A	1	0	0	0	0	0	0	1	0	3455	521	18	2		2	COL11A1	1	102962652	Splice_Site	SNP	C	C3N-01410_TP	55524069	102962652	145993770	7	24401											
MAN1A2	0	.	GRCh38	chr1	117502961	117502961	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcttttttcttgctgAaacattaaagtaagtatata	14	15	7	5	0	1	2	0	1	1	1	1	2	1	2	0	0	3	5	0	0	7	9	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.1784A>G	p.Glu595Gly	p.E595G	ENST00000356554	12/13	210	147	63	128	128	0	strelka-varscan-mutect	MAN1A2,missense_variant,p.Glu595Gly,ENST00000356554,NM_006699.3;MAN1A2,missense_variant,p.Glu328Gly,ENST00000449370,;MAN1A2,missense_variant,p.Glu162Gly,ENST00000421535,;MAN1A2,missense_variant,p.Glu34Gly,ENST00000422329,;	G	ENST00000356554	Transcript	missense_variant	2519/8576	1784/1926	595/641	E/G	gAa/gGa		1		1	MAN1A2	HGNC	HGNC:6822	protein_coding	YES	CCDS895.1	ENSP00000348959	O60476		UPI0000052B45	NM_006699.3	deleterious(0)		12/13		Gene3D:1.50.10.50,Pfam_domain:PF01532,Prints_domain:PR00747,hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF40,Superfamily_domains:SSF48225																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	75	117502961	117502961	A	G	1	0	0	0	0	1	0	0	0	9132	246	9	5		5	MAN1A2	1	117502961	Missense_Mutation	SNP	A	C3N-01410_TP	14540309	117502961	131453461	8	24402											
LIX1L	0	.	GRCh38	chr1	145936427	145936427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcttcatccagctcccgCtcagtagaggccagctctct	6	9	10	16	2	3	1	2	0	1	1	6	1	5	1	3	2	2	5	3	2	1	2	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.897G>T	p.Glu299Asp	p.E299D	ENST00000604000	6/6	575	371	204	457	457	0	strelka-varscan-mutect	LIX1L,missense_variant,p.Glu299Asp,ENST00000604000,NM_153713.2;CH17-270A2.2,intron_variant,,ENST00000625258,;RP11-315I20.1,non_coding_transcript_exon_variant,,ENST00000601726,;RP11-315I20.1,intron_variant,,ENST00000598354,;RP11-315I20.1,intron_variant,,ENST00000630257,;RP11-315I20.1,intron_variant,,ENST00000598103,;RP11-315I20.1,intron_variant,,ENST00000599626,;RP11-315I20.1,intron_variant,,ENST00000599469,;RP11-315I20.1,intron_variant,,ENST00000597144,;RP11-315I20.1,intron_variant,,ENST00000595518,;RP11-315I20.1,intron_variant,,ENST00000595494,;RP11-315I20.1,intron_variant,,ENST00000600340,;RP11-315I20.1,intron_variant,,ENST00000412239,;RP11-315I20.1,intron_variant,,ENST00000599147,;RP11-315I20.1,intron_variant,,ENST00000437797,;RP11-315I20.1,intron_variant,,ENST00000448561,;RP11-315I20.1,intron_variant,,ENST00000421764,;RP11-315I20.1,upstream_gene_variant,,ENST00000366105,;RP11-315I20.1,upstream_gene_variant,,ENST00000437207,;CH17-270A2.2,intron_variant,,ENST00000630636,;	A	ENST00000604000	Transcript	missense_variant	971/3975	897/1014	299/337	E/D	gaG/gaT		1		-1	LIX1L	HGNC	HGNC:28715	protein_coding	YES	CCDS72873.1	ENSP00000474487	Q8IVB5		UPI0000074663	NM_153713.2	tolerated(0.08)		6/6		hmmpanther:PTHR31139,Pfam_domain:PF14954																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	145936427	145936427	C	A	1	0	0	0	0	1	0	0	0	8755	796	28	2		2	LIX1L	1	145936427	Missense_Mutation	SNP	C	C3N-01410_TP	28433466	145936427	103019995	9	24403											
KPRP	0	.	GRCh38	chr1	152760746	152760746	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaagcttctgtccaccacgGcgtcttgaccagtgtccaga	8	9	9	15	2	2	2	0	1	2	1	4	2	4	2	5	1	1	1	5	1	1	2	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1158G>T	p.=	p.R386R	ENST00000606109	1/1	307	270	37	199	199	0	strelka-varscan-mutect	KPRP,synonymous_variant,p.=,ENST00000606109,NM_001025231.1;	T	ENST00000606109	Transcript	synonymous_variant	1186/2492	1158/1740	386/579	R	cgG/cgT		1		1	KPRP	HGNC	HGNC:31823	protein_coding	YES	CCDS30862.1	ENSP00000475216	Q5T749		UPI0000199942	NM_001025231.1			1/1																			LOW	1	SNV				1										PASS		.	.												T	2	4	75	152760746	152760746	G	T	1	0	0	0	0	0	0	0	1	8316	1190	42	2		2	KPRP	1	152760746	Silent	SNP	G	C3N-01410_TP	6824319	152760746	96195676	10	24404											
KCNN3	0	.	GRCh38	chr1	154869293	154869293	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgggcatggttgtcctcCcgggaggagatgacgatctc	6	10	16	9	2	1	2	0	1	1	1	4	5	3	3	2	5	0	2	2	5	0	1			C3N-01410_TP	C3N-01410_NB	C	C																c.672G>C	p.=	p.R224R	ENST00000618040	1/9	225	178	47	126	126	0	strelka-varscan-mutect	KCNN3,synonymous_variant,p.=,ENST00000618040,NM_001204087.1;KCNN3,synonymous_variant,p.=,ENST00000271915,NM_002249.5;KCNN3,upstream_gene_variant,,ENST00000358505,;	G	ENST00000618040	Transcript	synonymous_variant	986/13057	672/2241	224/746	R	cgG/cgC	COSM1491778	1		-1	KCNN3	HGNC	HGNC:6292	protein_coding	YES	CCDS72928.1	ENSP00000481848		A0A087WYJ0	UPI0001F936D2	NM_001204087.1			1/9		hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF40											1						LOW	1	SNV	5		1	1										PASS		.	.												G	2	3	75	154869293	154869293	C	G	1	0	0	0	0	0	0	0	1	7996	610	22	4		4	KCNN3	1	154869293	Silent	SNP	C	C3N-01410_TP	2108547	154869293	94087129	11	24405											
FCRL2	0	.	GRCh38	chr1	157769919	157769919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgatcctgtgagtcaccGtttctgccttgcaccagtaa	7	14	8	12	1	3	2	1	2	2	0	4	2	4	2	4	0	2	3	4	0	1	4	rs756244463		C3N-01410_TP	C3N-01410_NB	G	G																c.542C>T	p.Thr181Met	p.T181M	ENST00000361516	4/12	131	105	26	123	122	1	strelka-varscan-mutect	FCRL2,missense_variant,p.Thr181Met,ENST00000361516,NM_030764.3;FCRL2,intron_variant,,ENST00000368181,;FCRL2,upstream_gene_variant,,ENST00000469986,;FCRL2,non_coding_transcript_exon_variant,,ENST00000368178,;FCRL2,non_coding_transcript_exon_variant,,ENST00000462774,;	A	ENST00000361516	Transcript	missense_variant	591/2579	542/1527	181/508	T/M	aCg/aTg	rs756244463,COSM2149629	1		-1	FCRL2	HGNC	HGNC:14875	protein_coding	YES	CCDS1168.1	ENSP00000355157	Q96LA5		UPI000006E1F3	NM_030764.3	deleterious(0.04)		4/12		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF61,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs756244463	.												A	3	1	75	157769919	157769919	G	A	1	0	0	0	0	1	0	0	0	5658	1145	40	1		1	FCRL2	1	157769919	Missense_Mutation	SNP	G	C3N-01410_TP	2900626	157769919	91186503	12	24406											
CD1B	0	.	GRCh38	chr1	158329980	158329980	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattagtgcacagaatttcTgtgccctgctgccaccttct	7	14	8	12	0	2	2	0	1	2	1	2	2	2	2	3	0	4	2	3	0	2	3	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.479A>C	p.Gln160Pro	p.Q160P	ENST00000368168	3/6	364	300	64	357	357	0	strelka-varscan-mutect	CD1B,missense_variant,p.Gln160Pro,ENST00000368168,NM_001764.2;CD1B,missense_variant,p.Gln128Pro,ENST00000451207,;	G	ENST00000368168	Transcript	missense_variant	587/1395	479/1002	160/333	Q/P	cAg/cCg		1		-1	CD1B	HGNC	HGNC:1635	protein_coding	YES	CCDS1176.1	ENSP00000357150	P29016		UPI0000127333	NM_001764.2	deleterious(0.01)		3/6		hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF130,Pfam_domain:PF16497,Gene3D:3.30.500.10,Superfamily_domains:SSF54452																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	75	158329980	158329980	T	G	1	0	0	0	0	1	0	0	0	2678	1580	55	5		5	CD1B	1	158329980	Missense_Mutation	SNP	T	C3N-01410_TP	560061	158329980	90626442	13	24407											
OR10K2	0	.	GRCh38	chr1	158420430	158420430	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacaggcacaggcagcaGccactagtcccatacacacc	13	3	8	17	0	0	0	0	0	0	0	1	0	1	0	4	2	4	3	4	2	2	2	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.437C>A	p.Ala146Asp	p.A146D	ENST00000314902	1/1	454	398	56	423	423	0	strelka-varscan-mutect	OR10K2,missense_variant,p.Ala146Asp,ENST00000314902,NM_001004476.1;	T	ENST00000314902	Transcript	missense_variant	437/939	437/939	146/312	A/D	gCt/gAt		1		-1	OR10K2	HGNC	HGNC:14826	protein_coding	YES	CCDS30896.1	ENSP00000324251	Q6IF99	A0A126GV65	UPI0000041BC2	NM_001004476.1	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF400,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1031316708	.												T	3	4	75	158420430	158420430	G	T	1	0	0	0	0	1	0	0	0	10991	971	34	2		2	OR10K2	1	158420430	Missense_Mutation	SNP	G	C3N-01410_TP	90450	158420430	90535992	14	24408											
CADM3	0	.	GRCh38	chr1	159200907	159200907	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaggggacgacaagaaGgaatatttcatctagaggcg	14	7	14	6	2	3	2	2	0	1	2	3	6	3	5	0	5	0	0	0	5	5	3			C3N-01410_TP	C3N-01410_NB	G	G																c.1284G>A	p.=	p.K428K	ENST00000368124	10/10	60	41	19	47	47	0	strelka-varscan-mutect	CADM3,synonymous_variant,p.=,ENST00000368125,NM_001127173.1;CADM3,synonymous_variant,p.=,ENST00000368124,NM_021189.3;ACKR1,upstream_gene_variant,,ENST00000537147,;ACKR1,upstream_gene_variant,,ENST00000368122,NM_002036.3;ACKR1,upstream_gene_variant,,ENST00000368121,NM_001122951.2;CADM3,downstream_gene_variant,,ENST00000416746,;ACKR1,upstream_gene_variant,,ENST00000435307,;CADM3-AS1,non_coding_transcript_exon_variant,,ENST00000415675,;CADM3-AS1,downstream_gene_variant,,ENST00000609696,;	A	ENST00000368124	Transcript	synonymous_variant	1441/2546	1284/1299	428/432	K	aaG/aaA	COSM3476435	1		1	CADM3	HGNC	HGNC:17601	protein_coding	YES	CCDS1182.1	ENSP00000357106	Q8N126		UPI000006E8A2	NM_021189.3			10/10		hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF57											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	75	159200907	159200907	G	A	1	0	0	0	0	0	0	0	1	2258	991	35	3		3	CADM3	1	159200907	Silent	SNP	G	C3N-01410_TP	780477	159200907	89755515	15	24409											
VANGL2	0	.	GRCh38	chr1	160419443	160419443	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatgctcgggagcgcagcTaccagggcgtggtgcagttc	6	8	17	10	3	0	0	0	0	0	0	2	2	0	2	1	4	5	5	1	4	1	2	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.634T>A	p.Tyr212Asn	p.Y212N	ENST00000368061	4/8	336	277	59	318	318	0	strelka-varscan-mutect	VANGL2,missense_variant,p.Tyr212Asn,ENST00000368061,NM_020335.2;VANGL2,upstream_gene_variant,,ENST00000483408,;	A	ENST00000368061	Transcript	missense_variant	1108/5340	634/1566	212/521	Y/N	Tac/Aac		1		1	VANGL2	HGNC	HGNC:15511	protein_coding	YES	CCDS30915.1	ENSP00000357040	Q9ULK5		UPI00001C1D79	NM_020335.2	deleterious(0)		4/8		hmmpanther:PTHR20886,PIRSF_domain:PIRSF007991,Pfam_domain:PF06638																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	75	160419443	160419443	T	A	1	0	0	0	0	1	0	0	0	17665	1522	53	4		4	VANGL2	1	160419443	Missense_Mutation	SNP	T	C3N-01410_TP	1218536	160419443	88536979	16	24410											
KCNT2	0	.	GRCh38	chr1	196258239	196258239	+	Missense_Mutation	SNP	C	C	G																															gtgtttcattctatttttcaCaagttcagcaagctcttgtc																										C3N-01410_TP	C3N-01410_NB	C	C																c.3166G>C	p.Val1056Leu	p.V1056L	ENST00000294725	26/28	154	103	51	149	149	0	strelka-varscan	KCNT2,missense_variant,p.Val1032Leu,ENST00000367433,NM_001287819.1;KCNT2,missense_variant,p.Val1056Leu,ENST00000294725,NM_198503.3;KCNT2,missense_variant,p.Val989Leu,ENST00000609185,NM_001287820.1;KCNT2,3_prime_UTR_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;	G	ENST00000294725	Transcript	missense_variant	4082/4409	3166/3408	1056/1135	V/L	Gtg/Ctg	COSM1500145,COSM5263265	1		-1	KCNT2	HGNC	HGNC:18866	protein_coding	YES	CCDS1384.1	ENSP00000294725	Q6UVM3	A9LNM6	UPI00001E0966	NM_198503.3	deleterious(0)		26/28		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	75	196258239	196258239	C	G	1	0	0	0	0	1	0	0	0	8008	478	17	4		4	KCNT2	1	196258239	Missense_Mutation	SNP	C	C3N-01410_TP	35838796	196258239	52698183	17	24411	511	2									
KCNT2	0	.	GRCh38	chr1	196258240	196258240	+	Silent	SNP	A	A	T																															tgtttcattctatttttcacAagttcagcaagctcttgtct																								novel		C3N-01410_TP	C3N-01410_NB	A	A																c.3165T>A	p.=	p.L1055L	ENST00000294725	26/28	157	103	54	152	152	0	strelka-varscan	KCNT2,synonymous_variant,p.=,ENST00000367433,NM_001287819.1;KCNT2,synonymous_variant,p.=,ENST00000294725,NM_198503.3;KCNT2,synonymous_variant,p.=,ENST00000609185,NM_001287820.1;KCNT2,3_prime_UTR_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;	T	ENST00000294725	Transcript	synonymous_variant	4081/4409	3165/3408	1055/1135	L	ctT/ctA		1		-1	KCNT2	HGNC	HGNC:18866	protein_coding	YES	CCDS1384.1	ENSP00000294725	Q6UVM3	A9LNM6	UPI00001E0966	NM_198503.3			26/28		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	75	196258240	196258240	A	T	1	0	0	0	0	0	0	0	1	8008	117	5	4		4	KCNT2	1	196258240	Silent	SNP	A	C3N-01410_TP	1	196258240	52698182	18	24412	511	2									
PLEKHA6	0	.	GRCh38	chr1	204249211	204249211	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcggagctgctgcaccagCcggtcctgctccctcaccac	5	7	10	19	2	1	0	1	0	0	0	4	1	3	1	5	2	5	5	5	2	0	0	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1647G>T	p.=	p.R549R	ENST00000272203	11/23	153	128	25	140	140	0	strelka-varscan	PLEKHA6,synonymous_variant,p.=,ENST00000272203,NM_014935.4;PLEKHA6,synonymous_variant,p.=,ENST00000637508,;PLEKHA6,synonymous_variant,p.=,ENST00000414478,;	A	ENST00000272203	Transcript	synonymous_variant	1964/7401	1647/3147	549/1048	R	cgG/cgT		1		-1	PLEKHA6	HGNC	HGNC:17053	protein_coding	YES	CCDS1444.1	ENSP00000272203	Q9Y2H5		UPI000013D935	NM_014935.4			11/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12752,hmmpanther:PTHR12752:SF5																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	75	204249211	204249211	C	A	1	0	0	0	0	0	0	0	1	12153	726	26	2		2	PLEKHA6	1	204249211	Silent	SNP	C	C3N-01410_TP	7990971	204249211	44707211	19	24413											
LRRN2	0	.	GRCh38	chr1	204618713	204618713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggcttggggggaagcttCgtggggagatgaggggcaaa	9	6	22	4	1	0	2	0	1	0	1	1	5	0	4	0	9	1	3	0	9	2	2	rs138573874		C3N-01410_TP	C3N-01410_NB	C	C																c.1280G>A	p.Arg427Gln	p.R427Q	ENST00000367175	1/1	61	44	17	53	53	0	strelka-varscan	LRRN2,missense_variant,p.Arg427Gln,ENST00000367175,;LRRN2,missense_variant,p.Arg427Gln,ENST00000367177,NM_201630.1;LRRN2,missense_variant,p.Arg427Gln,ENST00000367176,NM_006338.2;RP11-430C7.4,downstream_gene_variant,,ENST00000453895,;LRRN2,downstream_gene_variant,,ENST00000496057,;	T	ENST00000367175	Transcript	missense_variant	3493/5036	1280/2142	427/713	R/Q	cGa/cAa	rs138573874,COSM2214523	1		-1	LRRN2	HGNC	HGNC:16914	protein_coding	YES	CCDS1448.1	ENSP00000356143	O75325	A0A024R993	UPI000013E8AC		tolerated(0.2)		1/1		PROSITE_profiles:PS50835,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF162,Superfamily_domains:SSF48726											0,1						MODERATE		SNV			0,1	1										PASS		.	.												T	3	4	75	204618713	204618713	C	T	1	0	0	0	0	1	0	0	0	8941	884	31	1		1	LRRN2	1	204618713	Missense_Mutation	SNP	C	C3N-01410_TP	369502	204618713	44337709	20	24414											
GUK1	0	.	GRCh38	chr1	228140319	228140319	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggatgctgcggcgcccgcTggccgggctggctgcggccg	1	5	19	16	7	0	0	0	0	0	0	0	1	0	1	4	6	3	4	4	6	0	0	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.17T>C	p.Leu6Pro	p.L6P	ENST00000366728	1/7	209	180	29	178	178	0	strelka-varscan	GUK1,missense_variant,p.Leu6Pro,ENST00000391865,NM_001159390.1;GUK1,missense_variant,p.Leu6Pro,ENST00000366723,;GUK1,missense_variant,p.Leu6Pro,ENST00000366728,NM_001242840.1;GUK1,missense_variant,p.Leu6Pro,ENST00000453943,;GUK1,5_prime_UTR_variant,,ENST00000312726,NM_000858.5;GUK1,5_prime_UTR_variant,,ENST00000366726,;GUK1,5_prime_UTR_variant,,ENST00000435153,;GUK1,5_prime_UTR_variant,,ENST00000366722,;GUK1,intron_variant,,ENST00000366730,NM_001242839.1;GUK1,upstream_gene_variant,,ENST00000366718,NM_001159391.1;GUK1,upstream_gene_variant,,ENST00000412265,;GUK1,upstream_gene_variant,,ENST00000366721,;GUK1,non_coding_transcript_exon_variant,,ENST00000492871,;GUK1,non_coding_transcript_exon_variant,,ENST00000485083,;GUK1,non_coding_transcript_exon_variant,,ENST00000498092,;GUK1,non_coding_transcript_exon_variant,,ENST00000469973,;GUK1,non_coding_transcript_exon_variant,,ENST00000485838,;GUK1,non_coding_transcript_exon_variant,,ENST00000493209,;GUK1,non_coding_transcript_exon_variant,,ENST00000493138,;GUK1,non_coding_transcript_exon_variant,,ENST00000462807,;GUK1,upstream_gene_variant,,ENST00000470040,;GUK1,upstream_gene_variant,,ENST00000491613,;GUK1,upstream_gene_variant,,ENST00000460224,;GUK1,upstream_gene_variant,,ENST00000485733,;GUK1,upstream_gene_variant,,ENST00000472939,;GUK1,upstream_gene_variant,,ENST00000484953,;	C	ENST00000366728	Transcript	missense_variant	30/842	17/726	6/241	L/P	cTg/cCg		1		1	GUK1	HGNC	HGNC:4693	protein_coding	YES	CCDS55689.1	ENSP00000355689	Q16774		UPI000046FFA0	NM_001242840.1	deleterious_low_confidence(0)		1/7		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	75	228140319	228140319	T	C	1	0	0	0	0	1	0	0	0	6782	1594	55	5		5	GUK1	1	228140319	Missense_Mutation	SNP	T	C3N-01410_TP	23521606	228140319	20816103	21	24415											
RYR2	0	.	GRCh38	chr1	237610861	237610861	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttcctgtcacacgtcCtgtggagcagaatgcccaac	9	9	10	13	1	1	1	1	0	0	1	3	2	3	2	3	1	4	3	3	1	2	1	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.4783C>A	p.Leu1595Met	p.L1595M	ENST00000366574	36/105	269	236	33	264	264	0	strelka-varscan	RYR2,missense_variant,p.Leu1595Met,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Leu1579Met,ENST00000360064,;	A	ENST00000366574	Transcript	missense_variant	5100/16562	4783/14904	1595/4967	L/M	Ctg/Atg		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.21)		36/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	237610861	237610861	C	A	1	0	0	0	0	1	0	0	0	14029	680	24	2		2	RYR2	1	237610861	Missense_Mutation	SNP	C	C3N-01410_TP	9470542	237610861	11345561	22	24416											
RGS7	0	.	GRCh38	chr1	240930752	240930752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggctcccaacaatttgatGgccaaaaatagggggtctgc	11	8	11	11	1	1	1	0	1	1	0	2	1	2	1	3	4	2	1	3	4	5	2	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.350C>A	p.Pro117Gln	p.P117Q	ENST00000366565	6/18	270	175	95	308	307	1	strelka-varscan	RGS7,missense_variant,p.Pro117Gln,ENST00000366565,NM_002924.5;RGS7,missense_variant,p.Pro117Gln,ENST00000366564,NM_001282778.1;RGS7,missense_variant,p.Pro117Gln,ENST00000366563,NM_001282775.1;RGS7,intron_variant,,ENST00000348120,NM_001282773.1;	T	ENST00000366565	Transcript	missense_variant	732/2494	350/1464	117/487	P/Q	cCa/cAa		1		-1	RGS7	HGNC	HGNC:10003	protein_coding	YES	CCDS31071.1	ENSP00000355523	P49802		UPI000040E182	NM_002924.5	deleterious(0)		6/18		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF26,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	240930752	240930752	G	T	1	0	0	0	0	1	0	0	0	13481	1348	47	2		2	RGS7	1	240930752	Missense_Mutation	SNP	G	C3N-01410_TP	3319891	240930752	8025670	23	24417											
WDR64	0	.	GRCh38	chr1	241775122	241775122	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagggaagactactgaaagaTatgctacctttcacaaaaca	17	9	7	8	0	1	3	1	1	0	2	1	4	1	4	1	1	4	1	1	1	8	5	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.2418T>C	p.=	p.D806D	ENST00000366552	20/27	147	96	51	186	186	0	strelka-varscan	WDR64,synonymous_variant,p.=,ENST00000366552,NM_144625.4;WDR64,synonymous_variant,p.=,ENST00000425826,;WDR64,intron_variant,,ENST00000437684,;WDR64,intron_variant,,ENST00000414635,;WDR64,synonymous_variant,p.=,ENST00000472717,;WDR64,non_coding_transcript_exon_variant,,ENST00000478331,;	C	ENST00000366552	Transcript	synonymous_variant	2625/4371	2418/3246	806/1081	D	gaT/gaC		1		1	WDR64	HGNC	HGNC:26570	protein_coding	YES		ENSP00000355510	B1ANS9		UPI0000519142	NM_144625.4			20/27		Gene3D:2.130.10.10,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF124,Superfamily_domains:SSF50978																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	75	241775122	241775122	T	C	1	0	0	0	0	0	0	0	1	17874	1403	49	5		5	WDR64	1	241775122	Silent	SNP	T	C3N-01410_TP	844370	241775122	7181300	24	24418											
ZNF669	0	.	GRCh38	chr1	247100949	247100949	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttatagggtttttctcCtgtgtgagttctctgatgtc	6	19	9	7	0	2	2	0	2	2	0	5	2	2	2	1	1	0	2	1	1	2	6	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.820G>T	p.Gly274Ter	p.G274*	ENST00000343381	4/4	126	98	28	141	141	0	strelka-varscan	ZNF669,stop_gained,p.Gly274Ter,ENST00000343381,NM_024804.2;ZNF669,stop_gained,p.Gly188Ter,ENST00000448299,NM_001142572.1;ZNF669,3_prime_UTR_variant,,ENST00000366501,;ZNF669,downstream_gene_variant,,ENST00000476158,;ZNF669,downstream_gene_variant,,ENST00000366500,;	A	ENST00000343381	Transcript	stop_gained	993/1951	820/1395	274/464	G/*	Gga/Tga		1		-1	ZNF669	HGNC	HGNC:25736	protein_coding	YES	CCDS31088.1	ENSP00000342818	Q96BR6	A0A024R5S3	UPI000013E1E0	NM_024804.2			4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF127,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	75	247100949	247100949	C	A	1	0	0	0	0	0	1	0	0	18650	690	24	2		2	ZNF669	1	247100949	Nonsense_Mutation	SNP	C	C3N-01410_TP	5325827	247100949	1855473	25	24419											
OR2T10	0	.	GRCh38	chr1	248593351	248593351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatgccaggaggagacataCcctatggctcatgagcacag	12	7	12	10	0	1	3	1	2	0	1	1	5	1	4	2	3	3	2	2	3	2	2	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.418G>T	p.Val140Leu	p.V140L	ENST00000330500	1/1	331	285	46	381	380	1	strelka-varscan	OR2T10,missense_variant,p.Val140Leu,ENST00000330500,NM_001004693.1;Y_RNA,downstream_gene_variant,,ENST00000364732,;	A	ENST00000330500	Transcript	missense_variant	418/939	418/939	140/312	V/L	Gta/Tta		1		-1	OR2T10	HGNC	HGNC:19573	protein_coding	YES	CCDS31121.1	ENSP00000329210	Q8NGZ9	A0A126GV79	UPI000004F23B	NM_001004693.1	tolerated(0.32)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF101,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	75	248593351	248593351	C	A	1	0	0	0	0	1	0	0	0	11095	507	18	2		2	OR2T10	1	248593351	Missense_Mutation	SNP	C	C3N-01410_TP	1492402	248593351	363071	26	24420											
GREB1	0	.	GRCh38	chr2	11634195	11634195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagcacatcgaggcggccCccgacatcatgcactacgcc	9	5	10	17	4	1	0	1	0	0	0	2	2	1	0	3	2	4	3	3	2	1	1	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.5056C>A	p.Pro1686Thr	p.P1686T	ENST00000381486	29/33	354	274	80	379	379	0	strelka-varscan-mutect	GREB1,missense_variant,p.Pro1686Thr,ENST00000381486,NM_014668.3;GREB1,missense_variant,p.Pro1686Thr,ENST00000234142,;GREB1,missense_variant,p.Pro684Thr,ENST00000396123,;	A	ENST00000381486	Transcript	missense_variant	5356/8484	5056/5850	1686/1949	P/T	Ccc/Acc		1		1	GREB1	HGNC	HGNC:24885	protein_coding	YES	CCDS42655.1	ENSP00000370896	Q4ZG55		UPI0000163937	NM_014668.3	deleterious(0.02)		29/33		Pfam_domain:PF15782,hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	75	11634195	11634195	C	A	1	0	0	0	0	1	0	0	0	6639	623	22	2		2	GREB1	2	11634195	Missense_Mutation	SNP	C	C3N-01410_TP		11634195	230559334	27	24421											
TRIB2	0	.	GRCh38	chr2	12718552	12718552	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcgtgccgtgcatctgcAcagcggagaggagctggtgt	6	11	15	9	3	1	1	0	0	1	1	2	3	1	2	1	3	5	3	1	3	0	2	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.245A>C	p.His82Pro	p.H82P	ENST00000155926	1/3	148	115	33	135	135	0	strelka-varscan-mutect	TRIB2,missense_variant,p.His82Pro,ENST00000155926,NM_021643.3;TRIB2,missense_variant,p.His82Pro,ENST00000405331,;TRIB2,intron_variant,,ENST00000381465,;RP11-333O1.1,downstream_gene_variant,,ENST00000569860,;TRIB2,downstream_gene_variant,,ENST00000483034,;	C	ENST00000155926	Transcript	missense_variant	1664/4391	245/1032	82/343	H/P	cAc/cCc		1		1	TRIB2	HGNC	HGNC:30809	protein_coding	YES	CCDS1683.1	ENSP00000155926	Q92519		UPI0000051C55	NM_021643.3	tolerated(0.35)		1/3		Gene3D:3.30.200.20,PROSITE_profiles:PS50011,hmmpanther:PTHR22961,hmmpanther:PTHR22961:SF15,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	75	12718552	12718552	A	C	1	0	0	0	0	1	0	0	0	16972	159	6	5		5	TRIB2	2	12718552	Missense_Mutation	SNP	A	C3N-01410_TP	1084357	12718552	229474977	28	24422											
APOB	0	.	GRCh38	chr2	21006451	21006451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcaactgctcctttagCggtagagtacagcattgaag	10	11	12	8	1	1	2	1	1	0	1	2	2	2	2	1	2	5	4	1	2	5	5	rs150790543		C3N-01410_TP	C3N-01410_NB	C	C																c.10417G>A	p.Ala3473Thr	p.A3473T	ENST00000233242	26/29	301	227	74	251	251	0	strelka-varscan	APOB,missense_variant,p.Ala3473Thr,ENST00000233242,NM_000384.2;	T	ENST00000233242	Transcript	missense_variant	10545/14121	10417/13692	3473/4563	A/T	Gct/Act	rs150790543,COSM1245204	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	tolerated(0.19)		26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	75	21006451	21006451	C	T	1	0	0	0	0	1	0	0	0	907	768	27	1		1	APOB	2	21006451	Missense_Mutation	SNP	C	C3N-01410_TP	8287899	21006451	221187078	29	24423											
CGREF1	0	.	GRCh38	chr2	27102405	27102405	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacttctgtccttcctaGtccctttaggtagctctgca	5	16	7	13	0	2	0	0	0	2	0	5	0	5	0	3	1	3	4	3	1	3	7	rs768771588		C3N-01410_TP	C3N-01410_NB	G	G																c.172C>G	p.Leu58Val	p.L58V	ENST00000402394	4/6	294	259	35	273	272	1	strelka-varscan	CGREF1,missense_variant,p.Leu58Val,ENST00000402394,NM_006569.5;CGREF1,missense_variant,p.Leu58Val,ENST00000312734,;CGREF1,missense_variant,p.Leu58Val,ENST00000402550,NM_001166240.1;CGREF1,missense_variant,p.Leu180Val,ENST00000404694,;CGREF1,missense_variant,p.Leu58Val,ENST00000405600,NM_001166239.1;CGREF1,missense_variant,p.Leu58Val,ENST00000260595,;KHK,downstream_gene_variant,,ENST00000260599,NM_000221.2;KHK,downstream_gene_variant,,ENST00000260598,NM_006488.2;KHK,downstream_gene_variant,,ENST00000429697,;KHK,downstream_gene_variant,,ENST00000490823,;CGREF1,non_coding_transcript_exon_variant,,ENST00000467539,;CGREF1,intron_variant,,ENST00000440612,;KHK,downstream_gene_variant,,ENST00000464371,;KHK,downstream_gene_variant,,ENST00000469936,;	C	ENST00000402394	Transcript	missense_variant	441/1906	172/957	58/318	L/V	Cta/Gta	rs768771588	1		-1	CGREF1	HGNC	HGNC:16962	protein_coding	YES	CCDS33162.2	ENSP00000385452	Q99674		UPI000013D0EB	NM_006569.5	tolerated(0.06)		4/6		hmmpanther:PTHR23104,hmmpanther:PTHR23104:SF11																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	75	27102405	27102405	G	C	1	0	0	0	0	1	0	0	0	3063	1020	36	4		4	CGREF1	2	27102405	Missense_Mutation	SNP	G	C3N-01410_TP	6095954	27102405	215091124	30	24424											
C2orf16	0	.	GRCh38	chr2	27578872	27578873	+	Frame_Shift_Ins	INS	-	-	A																															gtatccagagctttggatatINSaaaaaaccctgggacagata																								novel		C3N-01410_TP	C3N-01410_NB	-	-																c.2306dupA	p.Asn769LysfsTer10	p.N769Kfs*10	ENST00000408964	1/1	283	253	30	273	273	0	sindel-varindel-pindel	C2orf16,frameshift_variant,p.Asn769LysfsTer10,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271289.1,NM_001271318.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271287.1,NM_001271288.1;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000379717,;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,;	A	ENST00000408964	Transcript	frameshift_variant	2351-2352/6199	2300-2301/5955	767/1984	I/IX	ata/atAa		1		1	C2orf16	HGNC	HGNC:25275	protein_coding	YES	CCDS42666.1	ENSP00000386190	Q68DN1		UPI0000D61179	NM_032266.3			1/1		hmmpanther:PTHR33888																	HIGH		insertion		6		1										PASS		.	.												A	7	5	75	27578872	27578872	-	A	1	0	1	1	0	0	0	0	0	2032	1406	49	0		0	C2orf16	2	27578872	Frame_Shift_Ins	INS	-	C3N-01410_TP	476467	27578872	214614657	31	24425											
CAPN14	0	.	GRCh38	chr2	31194408	31194408	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaagtccctaagtccaataCcagaattctccgtcattgtc	11	11	5	14	1	2	1	1	0	1	1	6	1	4	1	5	0	1	0	5	0	5	4	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.950+1G>A		p.X317_splice	ENST00000403897		261	187	74	265	265	0	strelka-varscan	CAPN14,splice_donor_variant,,ENST00000403897,NM_001145122.1;CAPN14,splice_donor_variant,,ENST00000398824,NM_001321270.1;	T	ENST00000403897	Transcript	splice_donor_variant	-/2197	950/2055	317/684				1		-1	CAPN14	HGNC	HGNC:16664	protein_coding	YES	CCDS46254.1	ENSP00000385247	A8MX76		UPI000173A463	NM_001145122.1				9/21																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	75	31194408	31194408	C	T	1	0	0	0	0	0	0	1	0	2319	521	18	3		3	CAPN14	2	31194408	Splice_Site	SNP	C	C3N-01410_TP	3615536	31194408	210999121	32	24426											
IMMT	0	.	GRCh38	chr2	86144466	86144466	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaatgcaataggaagcAtatgacagtaatttaaatgt	16	12	8	5	0	1	1	1	1	0	0	1	2	1	2	0	1	3	4	0	1	8	5	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.2079T>A	p.Tyr693Ter	p.Y693*	ENST00000410111	15/15	487	332	155	390	390	0	strelka-varscan-mutect	IMMT,stop_gained,p.Tyr693Ter,ENST00000410111,NM_006839.2;IMMT,stop_gained,p.Tyr682Ter,ENST00000449247,NM_001100170.1;IMMT,stop_gained,p.Tyr692Ter,ENST00000442664,NM_001100169.1;IMMT,stop_gained,p.Tyr594Ter,ENST00000254636,;IMMT,stop_gained,p.Tyr646Ter,ENST00000409051,;IMMT,stop_gained,p.Tyr548Ter,ENST00000419070,;IMMT,stop_gained,p.Tyr307Ter,ENST00000620815,;PTCD3,downstream_gene_variant,,ENST00000254630,NM_017952.5;	T	ENST00000410111	Transcript	stop_gained	2467/3001	2079/2277	693/758	Y/*	taT/taA		1		-1	IMMT	HGNC	HGNC:6047	protein_coding	YES	CCDS46355.1	ENSP00000387262	Q16891		UPI0000073828	NM_006839.2			15/15		hmmpanther:PTHR15415:SF7,hmmpanther:PTHR15415,Pfam_domain:PF09731																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	75	86144466	86144466	A	T	1	0	0	0	0	0	1	0	0	7621	224	8	4		4	IMMT	2	86144466	Nonsense_Mutation	SNP	A	C3N-01410_TP	54950058	86144466	156049063	33	24427											
ANAPC1	0	.	GRCh38	chr2	111778681	111778681	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggatccatacctgatcCattgcgatgtatgcaggcaa	10	13	9	9	1	0	1	0	1	0	0	2	3	2	2	3	2	3	3	3	2	3	5	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.5379G>T	p.Met1793Ile	p.M1793I	ENST00000341068	45/48	86	73	13	85	85	0	strelka-varscan-mutect	ANAPC1,missense_variant,p.Met1793Ile,ENST00000341068,NM_022662.3;ANAPC1,missense_variant,p.Met1328Ile,ENST00000427997,;ANAPC1,non_coding_transcript_exon_variant,,ENST00000462785,;	A	ENST00000341068	Transcript	missense_variant	6152/8262	5379/5835	1793/1944	M/I	atG/atT		1		-1	ANAPC1	HGNC	HGNC:19988	protein_coding	YES	CCDS2093.1	ENSP00000339109	Q9H1A4		UPI000006EC6E	NM_022662.3	tolerated(1)		45/48		hmmpanther:PTHR12827																	MODERATE	1	SNV	1			1										PASS		rs1422897069	.												A	3	1	75	111778681	111778681	C	A	1	0	0	0	0	1	0	0	0	695	594	21	2		2	ANAPC1	2	111778681	Missense_Mutation	SNP	C	C3N-01410_TP	25634215	111778681	130414848	34	24428											
CNTNAP5	0	.	GRCh38	chr2	124446766	124446766	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaggtgacagcaaagcGcggctcagcagcagcttgcc	10	6	12	13	2	2	1	2	1	0	0	2	1	2	1	1	2	6	5	1	2	1	2	rs370435489		C3N-01410_TP	C3N-01410_NB	G	G																c.747G>T	p.=	p.A249A	ENST00000431078	6/24	67	55	12	76	76	0	strelka-varscan-mutect	CNTNAP5,synonymous_variant,p.=,ENST00000431078,NM_130773.3;	T	ENST00000431078	Transcript	synonymous_variant	1111/5284	747/3921	249/1306	A	gcG/gcT	rs370435489	1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3			6/24		PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF665,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		rs370435489	.												T	2	4	75	124446766	124446766	G	T	1	0	0	0	0	0	0	0	1	3432	1074	38	1		1	CNTNAP5	2	124446766	Silent	SNP	G	C3N-01410_TP	12668085	124446766	117746763	35	24429											
PROC	0	.	GRCh38	chr2	127423380	127423380	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgcctggctacaagctgggGgacgacctcctgcagtgtca	7	7	14	13	2	1	0	1	0	0	0	2	2	2	1	3	3	3	3	3	3	2	1			C3N-01410_TP	C3N-01410_NB	G	G																c.507G>A	p.=	p.G169G	ENST00000234071	6/9	77	66	11	86	86	0	strelka-varscan-mutect	PROC,synonymous_variant,p.=,ENST00000234071,NM_000312.3;PROC,synonymous_variant,p.=,ENST00000409048,;PROC,synonymous_variant,p.=,ENST00000402125,;PROC,synonymous_variant,p.=,ENST00000442644,;PROC,downstream_gene_variant,,ENST00000427769,;PROC,downstream_gene_variant,,ENST00000429925,;MIR4783,downstream_gene_variant,,ENST00000580343,;PROC,non_coding_transcript_exon_variant,,ENST00000464089,;PROC,downstream_gene_variant,,ENST00000431364,;PROC,downstream_gene_variant,,ENST00000474030,;PROC,downstream_gene_variant,,ENST00000419985,;	A	ENST00000234071	Transcript	synonymous_variant	594/1773	507/1386	169/461	G	ggG/ggA	COSM5523583,COSM5523584	1		1	PROC	HGNC	HGNC:9451	protein_coding	YES	CCDS2145.1	ENSP00000234071	P04070		UPI0000001646	NM_000312.3			6/9		hmmpanther:PTHR24278,hmmpanther:PTHR24278:SF0,PROSITE_patterns:PS01186,PIRSF_domain:PIRSF001143,Pfam_domain:PF14670,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF50494											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	75	127423380	127423380	G	A	1	0	0	0	0	0	0	0	1	12679	1219	43	3		3	PROC	2	127423380	Silent	SNP	G	C3N-01410_TP	2976614	127423380	114770149	36	24430											
MYO7B	0	.	GRCh38	chr2	127625466	127625466	+	Frame_Shift_Del	DEL	C	C	-																															gagctgctgcccagctgcatCccccacaagctgtacaggac																								novel		C3N-01410_TP	C3N-01410_NB	C	C																c.4072delC	p.His1358ThrfsTer70	p.H1358Tfs*70	ENST00000428314	30/47	99	79	20	118	118	0	sindel-varindel-pindel	MYO7B,frameshift_variant,p.His1358ThrfsTer70,ENST00000428314,NM_001080527.1;MYO7B,frameshift_variant,p.His1358ThrfsTer70,ENST00000409816,;MYO7B,frameshift_variant,p.His211ThrfsTer70,ENST00000409090,;MYO7B,downstream_gene_variant,,ENST00000437387,;RP11-286H15.1,downstream_gene_variant,,ENST00000609697,;MYO7B,non_coding_transcript_exon_variant,,ENST00000496841,;MYO7B,non_coding_transcript_exon_variant,,ENST00000491278,;	-	ENST00000428314	Transcript	frameshift_variant	4121/6715	4068/6351	1356/2116	I/X	atC/at		1		1	MYO7B	HGNC	HGNC:7607	protein_coding	YES	CCDS46405.1	ENSP00000415090	Q6PIF6		UPI00006C04F0	NM_001080527.1			30/47		Gene3D:1.20.80.10,PROSITE_profiles:PS50057,SMART_domains:SM00295,Superfamily_domains:SSF47031																	HIGH	1	deletion	5	4		1										PASS		.	.												-	7	5	75	127625466	127625466	C	-	1	0	1	0	1	0	0	0	0	10084	845	30	0		0	MYO7B	2	127625466	Frame_Shift_Del	DEL	C	C3N-01410_TP	202086	127625466	114568063	37	24431											
LRP1B	0	.	GRCh38	chr2	140274460	140274460	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgtctttatttataatgCagtgccccccatggcacctt	8	14	6	13	0	1	0	0	0	1	0	1	0	1	0	4	1	2	2	4	1	3	6	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.13106G>T	p.Cys4369Phe	p.C4369F	ENST00000389484	85/91	228	193	35	346	346	0	strelka-mutect	LRP1B,missense_variant,p.Cys4369Phe,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Cys601Phe,ENST00000437977,;LRP1B,missense_variant,p.Cys101Phe,ENST00000442974,;	A	ENST00000389484	Transcript	missense_variant	14078/16535	13106/13800	4369/4599	C/F	tGc/tTc		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0)		85/91		SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	140274460	140274460	C	A	1	0	0	0	0	1	0	0	0	8850	710	25	2		2	LRP1B	2	140274460	Missense_Mutation	SNP	C	C3N-01410_TP	12648994	140274460	101919069	38	24432											
GTDC1	0	.	GRCh38	chr2	144208613	144208613	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaattacctgtaatgctCactgatgggaatggtctgag	10	13	10	8	0	3	2	1	2	2	0	3	3	3	3	1	2	2	2	1	2	4	3	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.169G>T	p.Glu57Ter	p.E57*	ENST00000392869	3/11	125	106	19	98	98	0	strelka-varscan-mutect	GTDC1,stop_gained,p.Glu57Ter,ENST00000392869,;GTDC1,stop_gained,p.Glu57Ter,ENST00000409214,NM_001006636.3;GTDC1,stop_gained,p.Glu57Ter,ENST00000542155,NM_001164629.3;GTDC1,stop_gained,p.Glu57Ter,ENST00000344850,;GTDC1,stop_gained,p.Glu57Ter,ENST00000392867,NM_024659.4;GTDC1,stop_gained,p.Glu57Ter,ENST00000241391,NM_001284233.1;GTDC1,stop_gained,p.Glu57Ter,ENST00000409298,;GTDC1,stop_gained,p.Glu57Ter,ENST00000437114,;GTDC1,stop_gained,p.Glu57Ter,ENST00000417450,;GTDC1,intron_variant,,ENST00000463875,NM_001284234.1;GTDC1,downstream_gene_variant,,ENST00000467352,;GTDC1,stop_gained,p.Glu57Ter,ENST00000415569,;GTDC1,stop_gained,p.Glu57Ter,ENST00000392871,;GTDC1,stop_gained,p.Glu57Ter,ENST00000429978,;GTDC1,non_coding_transcript_exon_variant,,ENST00000491448,;GTDC1,non_coding_transcript_exon_variant,,ENST00000484303,;	A	ENST00000392869	Transcript	stop_gained	322/10514	169/1377	57/458	E/*	Gag/Tag		1		-1	GTDC1	HGNC	HGNC:20887	protein_coding	YES	CCDS33300.1	ENSP00000376608	Q4AE62		UPI000022BC3B				3/11		hmmpanther:PTHR13615,hmmpanther:PTHR13615:SF3,Pfam_domain:PF12038																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	75	144208613	144208613	C	A	1	0	0	0	0	0	1	0	0	6733	835	29	2		2	GTDC1	2	144208613	Nonsense_Mutation	SNP	C	C3N-01410_TP	3934153	144208613	97984916	39	24433											
NEB	0	.	GRCh38	chr2	151640501	151640501	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacccccagcatgtccaCtgggctgctgaacttggtct	7	9	9	16	0	1	1	0	1	1	0	2	1	2	1	4	2	3	3	4	2	1	1	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.8539G>T	p.Val2847Leu	p.V2847L	ENST00000618972	61/183	354	274	80	457	457	0	strelka-varscan-mutect	NEB,missense_variant,p.Val2847Leu,ENST00000618972,NM_001271208.1;NEB,missense_variant,p.Val2847Leu,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Val2847Leu,ENST00000427231,NM_001164507.1;NEB,missense_variant,p.Val2847Leu,ENST00000603639,;NEB,missense_variant,p.Val2847Leu,ENST00000604864,;NEB,missense_variant,p.Val2847Leu,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Val2847Leu,ENST00000172853,;	A	ENST00000618972	Transcript	missense_variant	8742/26307	8539/25683	2847/8560	V/L	Gtg/Ttg		1		-1	NEB	HGNC	HGNC:7720	protein_coding	YES	CCDS74588.1	ENSP00000484342		A0A087X1N7	UPI0004E4CCB0	NM_001271208.1	tolerated(0.44)		61/183		PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	75	151640501	151640501	C	A	1	0	0	0	0	1	0	0	0	10326	565	20	2		2	NEB	2	151640501	Missense_Mutation	SNP	C	C3N-01410_TP	7431888	151640501	90553028	40	24434											
TTN	0	.	GRCh38	chr2	178720180	178720180	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaacagaaattggctggAagccctccactatggcccgt	12	7	10	12	1	0	2	0	0	0	2	1	3	1	3	3	3	2	1	3	3	4	2	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.23462T>A	p.Phe7821Tyr	p.F7821Y	ENST00000589042	81/363	202	172	30	171	171	0	strelka-varscan-mutect	TTN,missense_variant,p.Phe7821Tyr,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Phe7504Tyr,ENST00000591111,;TTN,missense_variant,p.Phe7504Tyr,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Phe6577Tyr,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,;	T	ENST00000589042	Transcript	missense_variant	23687/109224	23462/107976	7821/35991	F/Y	tTc/tAc		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			81/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	75	178720180	178720180	A	T	1	0	0	0	0	1	0	0	0	17245	246	9	4		4	TTN	2	178720180	Missense_Mutation	SNP	A	C3N-01410_TP	27079679	178720180	63473349	41	24435											
TTN	0	.	GRCh38	chr2	178775882	178775882	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttactgcgcagctcttcCgactcttcaggcactttttc	7	15	6	13	2	3	0	1	0	2	0	5	1	4	0	1	1	3	3	1	1	2	6	rs573823772		C3N-01410_TP	C3N-01410_NB	C	C																c.5982G>A	p.=	p.S1994S	ENST00000589042	28/363	265	221	44	243	243	0	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.4;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN,synonymous_variant,p.=,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000629094,;TTN-AS1,upstream_gene_variant,,ENST00000582038,;TTN-AS1,downstream_gene_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000584485,;TTN-AS1,downstream_gene_variant,,ENST00000610005,;	T	ENST00000589042	Transcript	synonymous_variant	6207/109224	5982/107976	1994/35991	S	tcG/tcA	rs573823772,COSM3379936,COSM3379937,COSM3379938,COSM3379939,COSM3379941	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			28/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10											0,1,1,1,1,1						LOW	1	SNV	5		0,1,1,1,1,1	1										PASS		rs573823772	.												T	2	4	75	178775882	178775882	C	T	1	0	0	0	0	0	0	0	1	17245	639	23	1		1	TTN	2	178775882	Silent	SNP	C	C3N-01410_TP	55702	178775882	63417647	42	24436											
CRYGC	0	.	GRCh38	chr2	208128398	208128398	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaagcggtcctggatgctGgggcagtcttcactcagctc	6	10	14	11	1	3	0	2	0	1	0	5	2	4	2	1	5	3	3	1	5	1	1	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.330C>A	p.=	p.P110P	ENST00000282141	3/3	262	175	87	281	280	1	strelka-varscan-mutect	CRYGC,synonymous_variant,p.=,ENST00000282141,NM_020989.3;CRYGD,upstream_gene_variant,,ENST00000264376,NM_006891.3;	T	ENST00000282141	Transcript	synonymous_variant	368/629	330/525	110/174	P	ccC/ccA		1		-1	CRYGC	HGNC	HGNC:2410	protein_coding	YES	CCDS2379.1	ENSP00000282141	P07315	A0A0X8GLL6	UPI000013DCBD	NM_020989.3			3/3		PROSITE_profiles:PS50915,hmmpanther:PTHR11818:SF32,hmmpanther:PTHR11818,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695																	LOW	1	SNV	1			1										PASS		rs864309689	.												T	2	4	75	208128398	208128398	G	T	1	0	0	0	0	0	0	0	1	3718	1335	47	2		2	CRYGC	2	208128398	Silent	SNP	G	C3N-01410_TP	29352516	208128398	34065131	43	24437											
ABCA12	0	.	GRCh38	chr2	214978450	214978450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatttttttgtgactctttgGtcaagttcagaaagacctag	10	17	8	6	0	3	3	2	1	1	2	3	3	3	3	1	1	0	1	1	1	4	7	rs142794443		C3N-01410_TP	C3N-01410_NB	G	G																c.4994C>A	p.Thr1665Asn	p.T1665N	ENST00000272895	33/53	309	266	43	330	328	2	strelka-varscan-mutect	ABCA12,missense_variant,p.Thr1665Asn,ENST00000272895,NM_173076.2;ABCA12,missense_variant,p.Thr1347Asn,ENST00000389661,NM_015657.3;	T	ENST00000272895	Transcript	missense_variant	5214/9100	4994/7788	1665/2595	T/N	aCc/aAc	rs142794443	1		-1	ABCA12	HGNC	HGNC:14637	protein_coding	YES	CCDS33372.1	ENSP00000272895	Q86UK0		UPI000019AB7A	NM_173076.2	deleterious(0.01)		33/53		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF29																	MODERATE	1	SNV	1			1										PASS		rs142794443	.												T	3	4	75	214978450	214978450	G	T	1	0	0	0	0	1	0	0	0	34	1261	44	2		2	ABCA12	2	214978450	Missense_Mutation	SNP	G	C3N-01410_TP	6850052	214978450	27215079	44	24438											
ESPNL	0	.	GRCh38	chr2	238130924	238130924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagacctggccagcctgcGcaaggagcgcatcatcatgc	9	5	11	16	2	2	1	2	0	0	1	2	2	2	2	4	2	4	2	4	2	1	0	rs772056400		C3N-01410_TP	C3N-01410_NB	G	G																c.2210G>T	p.Arg737Leu	p.R737L	ENST00000343063	9/9	147	120	27	91	91	0	strelka-varscan-mutect	ESPNL,missense_variant,p.Arg737Leu,ENST00000343063,NM_194312.2;ESPNL,missense_variant,p.Arg693Leu,ENST00000409169,;ESPNL,missense_variant,p.Arg369Leu,ENST00000409506,NM_001308370.1;ESPNL,5_prime_UTR_variant,,ENST00000612395,;ESPNL,downstream_gene_variant,,ENST00000423032,;ESPNL,non_coding_transcript_exon_variant,,ENST00000477241,;	T	ENST00000343063	Transcript	missense_variant	2473/4836	2210/3018	737/1005	R/L	cGc/cTc	rs772056400	1		1	ESPNL	HGNC	HGNC:27937	protein_coding	YES	CCDS2525.1	ENSP00000339115	Q6ZVH7		UPI000022BC90	NM_194312.2	deleterious(0)		9/9		hmmpanther:PTHR24153:SF0,hmmpanther:PTHR24153																	MODERATE	1	SNV	2			1										PASS		rs772056400	.												T	3	4	75	238130924	238130924	G	T	1	0	0	0	0	1	0	0	0	5117	1087	38	1		1	ESPNL	2	238130924	Missense_Mutation	SNP	G	C3N-01410_TP	23152474	238130924	4062605	45	24439											
CHL1	0	.	GRCh38	chr3	399085	399085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgatgtgtgcgattgctCttctcacactactattatta	9	16	7	9	1	2	1	1	1	2	0	3	3	2	1	0	0	3	1	0	0	4	6	rs763802045		C3N-01410_TP	C3N-01410_NB	C	C																c.3322C>A	p.Leu1108Ile	p.L1108I	ENST00000256509	26/28	177	111	66	259	259	0	strelka-varscan-mutect	CHL1,missense_variant,p.Leu1108Ile,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Leu1055Ile,ENST00000620033,NM_001253388.1;CHL1,missense_variant,p.Leu1092Ile,ENST00000397491,NM_001253387.1;CHL1,missense_variant,p.Leu242Ile,ENST00000445697,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	A	ENST00000256509	Transcript	missense_variant	3964/8023	3322/3675	1108/1224	L/I	Ctt/Att	rs763802045	1		1	CHL1	HGNC	HGNC:1939	protein_coding	YES	CCDS2556.1	ENSP00000256509	O00533		UPI000013CF0F	NM_006614.3	deleterious(0.03)		26/28		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs763802045	.												A	3	1	75	399085	399085	C	A	1	0	0	0	0	1	0	0	0	3108	913	32	2		2	CHL1	3	399085	Missense_Mutation	SNP	C	C3N-01410_TP		399085	197896474	46	24440											
ARPP21	0	.	GRCh38	chr3	35729507	35729507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcaacaggcatcccgcCtggaagcatccttcttaatc	10	9	8	14	1	1	0	0	0	1	0	4	1	3	1	3	2	4	4	3	2	3	2	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1328C>A	p.Pro443His	p.P443H	ENST00000417925	13/19	194	118	76	159	159	0	strelka-varscan-mutect	ARPP21,missense_variant,p.Pro477His,ENST00000187397,NM_016300.4;ARPP21,missense_variant,p.Pro423His,ENST00000444190,NM_001267617.1;ARPP21,missense_variant,p.Pro443His,ENST00000417925,NM_001267619.1;ARPP21,missense_variant,p.Pro250His,ENST00000425289,;ARPP21,non_coding_transcript_exon_variant,,ENST00000476327,;ARPP21,missense_variant,p.Pro135His,ENST00000457165,;ARPP21,3_prime_UTR_variant,,ENST00000427590,;ARPP21,downstream_gene_variant,,ENST00000481854,;	A	ENST00000417925	Transcript	missense_variant	1542/3086	1328/2442	443/813	P/H	cCt/cAt		1		1	ARPP21	HGNC	HGNC:16968	protein_coding	YES	CCDS58823.1	ENSP00000412326	Q9UBL0		UPI0000209B3D	NM_001267619.1	deleterious(0)		13/19		hmmpanther:PTHR15672,hmmpanther:PTHR15672:SF14																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	75	35729507	35729507	C	A	1	0	0	0	0	1	0	0	0	1121	681	24	2		2	ARPP21	3	35729507	Missense_Mutation	SNP	C	C3N-01410_TP	35330422	35729507	162566052	47	24441											
SCN10A	0	.	GRCh38	chr3	38713994	38713994	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagaaagagcccgcagtggCcgcagagcgcgaagggttcg	10	3	17	11	6	0	3	0	0	0	3	1	5	0	3	2	2	2	3	2	2	2	1	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.3768G>T	p.=	p.R1256R	ENST00000449082	21/27	192	136	56	238	238	0	strelka-varscan-mutect	SCN10A,synonymous_variant,p.=,ENST00000449082,NM_001293306.2,NM_006514.3,NM_001293307.2;	A	ENST00000449082	Transcript	synonymous_variant	3768/6418	3768/5871	1256/1956	R	cgG/cgT		1		-1	SCN10A	HGNC	HGNC:10582	protein_coding	YES	CCDS33736.1	ENSP00000390600	Q9Y5Y9		UPI0000209BDA	NM_001293306.2,NM_006514.3,NM_001293307.2			21/27		Low_complexity_(Seg):seg,hmmpanther:PTHR10037:SF208,hmmpanther:PTHR10037,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	75	38713994	38713994	C	A	1	0	0	0	0	0	0	0	1	14181	726	26	2		2	SCN10A	3	38713994	Silent	SNP	C	C3N-01410_TP	2984487	38713994	159581565	48	24442											
SCN10A	0	.	GRCh38	chr3	38752450	38752450	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagatatctcggccaggggaCcggaaatggaacacactgcc	12	5	13	11	2	1	1	0	0	1	1	2	5	1	4	3	5	2	0	3	5	3	1			C3N-01410_TP	C3N-01410_NB	C	C																c.1524G>T	p.=	p.R508R	ENST00000449082	11/27	65	39	26	96	96	0	strelka-varscan-mutect	SCN10A,synonymous_variant,p.=,ENST00000449082,NM_001293306.2,NM_006514.3,NM_001293307.2;	A	ENST00000449082	Transcript	synonymous_variant	1524/6418	1524/5871	508/1956	R	cgG/cgT	COSM5399283	1		-1	SCN10A	HGNC	HGNC:10582	protein_coding	YES	CCDS33736.1	ENSP00000390600	Q9Y5Y9		UPI0000209BDA	NM_001293306.2,NM_006514.3,NM_001293307.2			11/27		hmmpanther:PTHR10037:SF208,hmmpanther:PTHR10037											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	75	38752450	38752450	C	A	1	0	0	0	0	0	0	0	1	14181	494	18	2		2	SCN10A	3	38752450	Silent	SNP	C	C3N-01410_TP	38456	38752450	159543109	49	24443											
DOCK3	0	.	GRCh38	chr3	51270884	51270884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttcaccgtgcaagaggtgGcagagtttgtgagagggaca	10	9	16	6	1	1	3	1	1	0	3	1	5	1	4	1	3	1	4	1	3	1	2	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.2425G>A	p.Ala809Thr	p.A809T	ENST00000266037	24/53	190	122	68	215	214	1	strelka-varscan	DOCK3,missense_variant,p.Ala809Thr,ENST00000266037,NM_004947.4;	A	ENST00000266037	Transcript	missense_variant	2448/8755	2425/6093	809/2030	A/T	Gca/Aca		1		1	DOCK3	HGNC	HGNC:2989	protein_coding	YES	CCDS46835.1	ENSP00000266037	Q8IZD9		UPI000007412C	NM_004947.4	tolerated(0.1)		24/53		hmmpanther:PTHR23317:SF66,hmmpanther:PTHR23317,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	51270884	51270884	G	A	1	0	0	0	0	1	0	0	0	4503	1203	42	3		3	DOCK3	3	51270884	Missense_Mutation	SNP	G	C3N-01410_TP	12518434	51270884	147024675	50	24444											
GXYLT2	0	.	GRCh38	chr3	72888471	72888471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcgtccgcgcccccgagcgGgccgccggggcgctgcgaga	3	2	18	18	10	0	1	0	0	0	1	1	3	1	1	5	3	2	1	5	3	0	0	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.238G>T	p.Gly80Cys	p.G80C	ENST00000389617	1/7	27	19	8	37	37	0	strelka-varscan	GXYLT2,missense_variant,p.Gly80Cys,ENST00000389617,NM_001080393.1;LAPTM4BP2,downstream_gene_variant,,ENST00000604542,;	T	ENST00000389617	Transcript	missense_variant	399/3260	238/1332	80/443	G/C	Ggc/Tgc		1		1	GXYLT2	HGNC	HGNC:33383	protein_coding	YES	CCDS46870.1	ENSP00000374268	A0PJZ3		UPI00001D7E8F	NM_001080393.1	deleterious(0)		1/7		Low_complexity_(Seg):seg,hmmpanther:PTHR12270,hmmpanther:PTHR12270:SF15																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	75	72888471	72888471	G	T	1	0	0	0	0	1	0	0	0	6787	1232	43	2		2	GXYLT2	3	72888471	Missense_Mutation	SNP	G	C3N-01410_TP	21617587	72888471	125407088	51	24445											
PDZRN3	0	.	GRCh38	chr3	73391096	73391096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcttgtcctggctgttCattctgtagaggtccacttc	5	14	9	13	0	2	1	1	0	1	1	5	1	4	1	3	2	1	4	3	2	1	5	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1275G>T	p.Met425Ile	p.M425I	ENST00000263666	6/10	132	111	21	166	166	0	strelka-varscan	PDZRN3,missense_variant,p.Met425Ile,ENST00000263666,NM_015009.2;PDZRN3,missense_variant,p.Met82Ile,ENST00000462146,NM_001303141.1;PDZRN3,missense_variant,p.Met142Ile,ENST00000479530,NM_001303142.1;PDZRN3,missense_variant,p.Met82Ile,ENST00000466780,NM_001303140.1;PDZRN3,missense_variant,p.Met22Ile,ENST00000494559,;PDZRN3,missense_variant,p.Met123Ile,ENST00000492909,NM_001303139.1;PDZRN3,non_coding_transcript_exon_variant,,ENST00000466348,;PDZRN3,downstream_gene_variant,,ENST00000498048,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000477434,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000484487,;PDZRN3,upstream_gene_variant,,ENST00000478209,;	A	ENST00000263666	Transcript	missense_variant	1390/4248	1275/3201	425/1066	M/I	atG/atT		1		-1	PDZRN3	HGNC	HGNC:17704	protein_coding	YES	CCDS33789.1	ENSP00000263666	Q9UPQ7		UPI00001C1DE6	NM_015009.2	tolerated(0.21)		6/10		PROSITE_profiles:PS50106,hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545,Pfam_domain:PF00595,Gene3D:2.30.42.10,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	73391096	73391096	C	A	1	0	0	0	0	1	0	0	0	11797	826	29	2		2	PDZRN3	3	73391096	Missense_Mutation	SNP	C	C3N-01410_TP	502625	73391096	124904463	52	24446											
CBLB	0	.	GRCh38	chr3	105702275	105702275	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacacatcccgagggcacCatgcttcaagaggcattggc	12	6	10	13	1	1	1	1	0	0	1	2	2	2	1	2	3	2	3	2	3	2	2	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1778G>T	p.Trp593Leu	p.W593L	ENST00000264122	12/19	398	225	173	357	356	1	strelka-varscan	CBLB,missense_variant,p.Trp593Leu,ENST00000264122,NM_001321786.1,NM_001321788.1,NM_170662.3;CBLB,missense_variant,p.Trp593Leu,ENST00000403724,;CBLB,missense_variant,p.Trp593Leu,ENST00000405772,;CBLB,upstream_gene_variant,,ENST00000394030,;	A	ENST00000264122	Transcript	missense_variant	2100/6780	1778/2949	593/982	W/L	tGg/tTg		1		-1	CBLB	HGNC	HGNC:1542	protein_coding	YES	CCDS2948.1	ENSP00000264122	Q13191		UPI00001AE89F	NM_001321786.1,NM_001321788.1,NM_170662.3	tolerated_low_confidence(0.1)		12/19		hmmpanther:PTHR23007:SF3,hmmpanther:PTHR23007																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	105702275	105702275	C	A	1	0	0	0	0	1	0	0	0	2402	595	21	2		2	CBLB	3	105702275	Missense_Mutation	SNP	C	C3N-01410_TP	32311179	105702275	92593284	53	24447											
PLA1A	0	.	GRCh38	chr3	119628779	119628779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaaccaagtgaaattcaaGtttcagtcttccaaccgagt	15	11	6	9	1	3	1	2	1	1	0	4	2	4	1	3	0	2	1	3	0	6	4	rs374852182		C3N-01410_TP	C3N-01410_NB	G	G																c.1200G>T	p.Lys400Asn	p.K400N	ENST00000273371	10/11	262	142	120	268	268	0	strelka-varscan	PLA1A,missense_variant,p.Lys400Asn,ENST00000273371,NM_015900.3;PLA1A,missense_variant,p.Lys384Asn,ENST00000494440,NM_001293225.1;PLA1A,missense_variant,p.Lys384Asn,ENST00000495992,NM_001206960.1;PLA1A,missense_variant,p.Lys227Asn,ENST00000488919,NM_001206961.1;	T	ENST00000273371	Transcript	missense_variant	1272/1786	1200/1371	400/456	K/N	aaG/aaT	rs374852182	1		1	PLA1A	HGNC	HGNC:17661	protein_coding	YES	CCDS2991.1	ENSP00000273371	Q53H76		UPI0000073F97	NM_015900.3	deleterious(0)		10/11		hmmpanther:PTHR11610:SF111,hmmpanther:PTHR11610,PIRSF_domain:PIRSF000865																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	119628779	119628779	G	T	1	0	0	0	0	1	0	0	0	12084	1020	36	2		2	PLA1A	3	119628779	Missense_Mutation	SNP	G	C3N-01410_TP	13926504	119628779	78666780	54	24448											
ERICH6	0	.	GRCh38	chr3	150659903	150659903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattcttagttaaatttcttCatttattatatttcttattg	10	24	2	5	0	4	0	1	0	3	0	4	0	4	0	0	0	0	1	0	0	7	12			C3N-01410_TP	C3N-01410_NB	C	C																c.1981G>A	p.Glu661Lys	p.E661K	ENST00000295910	14/14	85	48	37	91	91	0	strelka-varscan	ERICH6,missense_variant,p.Glu661Lys,ENST00000295910,NM_152394.4;ERICH6,missense_variant,p.Glu515Lys,ENST00000491361,NM_001308234.1;ERICH6,non_coding_transcript_exon_variant,,ENST00000491716,;	T	ENST00000295910	Transcript	missense_variant	2034/2052	1981/1992	661/663	E/K	Gaa/Aaa	COSM4533440	1		-1	ERICH6	HGNC	HGNC:28602	protein_coding	YES	CCDS3151.2	ENSP00000295910	Q7L0X2		UPI000023281A	NM_152394.4	tolerated(0.09)		14/14		hmmpanther:PTHR23093											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	75	150659903	150659903	C	T	1	0	0	0	0	1	0	0	0	5086	835	29	3		3	ERICH6	3	150659903	Missense_Mutation	SNP	C	C3N-01410_TP	31031124	150659903	47635656	55	24449											
ZBBX	0	.	GRCh38	chr3	167333921	167333921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcctctttgggttcatctGgattaacatcctttataaac	9	17	5	10	0	4	0	1	0	3	0	6	1	5	1	2	2	2	1	2	2	4	6	rs868172448		C3N-01410_TP	C3N-01410_NB	G	G																c.593C>G	p.Pro198Arg	p.P198R	ENST00000455345	9/21	130	79	51	117	117	0	strelka-varscan	ZBBX,missense_variant,p.Pro198Arg,ENST00000392766,NM_024687.3;ZBBX,missense_variant,p.Pro198Arg,ENST00000455345,NM_001199201.1;ZBBX,missense_variant,p.Pro198Arg,ENST00000307529,;ZBBX,missense_variant,p.Pro169Arg,ENST00000392767,;ZBBX,missense_variant,p.Pro169Arg,ENST00000392764,NM_001199202.1;ZBBX,intron_variant,,ENST00000469220,;	C	ENST00000455345	Transcript	missense_variant	877/3185	593/2520	198/839	P/R	cCa/cGa	rs868172448	1		-1	ZBBX	HGNC	HGNC:26245	protein_coding	YES	CCDS56296.1	ENSP00000390232	A8MT70		UPI000020A746	NM_001199201.1	deleterious(0)		9/21		hmmpanther:PTHR28634																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	75	167333921	167333921	G	C	1	0	0	0	0	1	0	0	0	18078	1348	47	4		4	ZBBX	3	167333921	Missense_Mutation	SNP	G	C3N-01410_TP	16674018	167333921	30961638	56	24450											
CCDC39	0	.	GRCh38	chr3	180651534	180651534	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttttagttttttgtaacCtgaagagggtttatcacaaa	12	17	8	4	0	1	2	1	1	0	1	1	3	1	2	1	1	1	3	1	1	5	9	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1035-1G>T		p.X345_splice	ENST00000442201		124	64	60	174	174	0	strelka-varscan	CCDC39,splice_acceptor_variant,,ENST00000442201,NM_181426.1;CCDC39,splice_acceptor_variant,,ENST00000476379,;	A	ENST00000442201	Transcript	splice_acceptor_variant	-/3279	1035/2826	345/941				1		-1	CCDC39	HGNC	HGNC:25244	protein_coding	YES	CCDS46964.1	ENSP00000405708	Q9UFE4		UPI00015D7298	NM_181426.1				8/19																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	75	180651534	180651534	C	A	1	0	0	0	0	0	0	1	0	2520	695	24	2		2	CCDC39	3	180651534	Splice_Site	SNP	C	C3N-01410_TP	13317613	180651534	17644025	57	24451											
TNK2	0	.	GRCh38	chr3	195870135	195870135	+	Frame_Shift_Del	DEL	G	G	-																															tttcacccctcctagatgctGggggggccgggaggtgctca																								rs757643410		C3N-01410_TP	C3N-01410_NB	G	G																c.1711delC	p.Gln571SerfsTer3	p.Q571Sfs*3	ENST00000381916	11/15	23	10	13	13	13	0	sindel-varindel	TNK2,frameshift_variant,p.Gln508SerfsTer3,ENST00000333602,NM_005781.4;TNK2,frameshift_variant,p.Gln540SerfsTer3,ENST00000428187,NM_001308046.1;TNK2,frameshift_variant,p.Gln571SerfsTer3,ENST00000381916,NM_001010938.1;TNK2,frameshift_variant,p.Gln60SerfsTer3,ENST00000416152,;TNK2,frameshift_variant,p.Gln118SerfsTer3,ENST00000424563,;TNK2,frameshift_variant,p.Gln153SerfsTer3,ENST00000411741,;TNK2,non_coding_transcript_exon_variant,,ENST00000478623,;TNK2,non_coding_transcript_exon_variant,,ENST00000495247,;TNK2,downstream_gene_variant,,ENST00000486523,;TNK2,3_prime_UTR_variant,,ENST00000439230,;TNK2,non_coding_transcript_exon_variant,,ENST00000481865,;TNK2,non_coding_transcript_exon_variant,,ENST00000464041,;TNK2,non_coding_transcript_exon_variant,,ENST00000489628,;TNK2,non_coding_transcript_exon_variant,,ENST00000478715,;TNK2,upstream_gene_variant,,ENST00000420716,;TNK2,downstream_gene_variant,,ENST00000468680,;	-	ENST00000381916	Transcript	frameshift_variant	1856/4223	1711/3261	571/1086	Q/X	Cag/ag	rs757643410,COSM1421943,COSM1421944,COSM1421945	1		-1	TNK2	HGNC	HGNC:19297	protein_coding	YES	CCDS33927.1	ENSP00000371341	Q07912		UPI00004C9B08	NM_001010938.1			11/15		Pfam_domain:PF09027											0,1,1,1						HIGH	1	deletion	2		0,1,1,1	1										PASS		.	.												-	7	5	75	195870135	195870135	G	-	1	0	1	0	1	0	0	0	0	16791	1357	47	0		0	TNK2	3	195870135	Frame_Shift_Del	DEL	G	C3N-01410_TP	15218601	195870135	2425424	58	24452											
PROM1	0	.	GRCh38	chr4	16006673	16006673	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcagcagagagcagatgAccaggccacccagccacctg	11	3	13	14	0	1	3	1	1	0	2	1	4	1	3	5	2	3	2	5	2	0	0	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.1319T>A	p.Val440Asp	p.V440D	ENST00000510224	13/28	158	129	29	202	202	0	strelka-varscan-mutect	PROM1,missense_variant,p.Val431Asp,ENST00000505450,NM_001145848.1;PROM1,missense_variant,p.Val431Asp,ENST00000508167,NM_001145847.1;PROM1,missense_variant,p.Val440Asp,ENST00000510224,;PROM1,missense_variant,p.Val440Asp,ENST00000447510,NM_006017.2;PROM1,missense_variant,p.Val440Asp,ENST00000540805,NM_001145849.1,NM_001145851.1;PROM1,missense_variant,p.Val440Asp,ENST00000539194,NM_001145850.1,NM_001145852.1;PROM1,3_prime_UTR_variant,,ENST00000511153,;	T	ENST00000510224	Transcript	missense_variant	1568/4006	1319/2598	440/865	V/D	gTc/gAc		1		-1	PROM1	HGNC	HGNC:9454	protein_coding	YES	CCDS47029.1	ENSP00000426809	O43490		UPI000004ECD6		deleterious(0)		13/28		Transmembrane_helices:TMhelix,hmmpanther:PTHR22730,hmmpanther:PTHR22730:SF3,Pfam_domain:PF05478																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	75	16006673	16006673	A	T	1	0	0	0	0	1	0	0	0	12687	275	10	4		4	PROM1	4	16006673	Missense_Mutation	SNP	A	C3N-01410_TP		16006673	174207882	59	24453											
CORIN	0	.	GRCh38	chr4	47680236	47680236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtccccgcagcgatgctctGttgtgggattgcaatctgga	6	11	13	11	3	2	0	0	0	2	0	3	3	3	2	2	2	3	4	2	2	1	2	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1037C>A	p.Thr346Lys	p.T346K	ENST00000273857	8/22	169	145	24	147	147	0	strelka-varscan-mutect	CORIN,missense_variant,p.Thr346Lys,ENST00000273857,NM_006587.3;CORIN,missense_variant,p.Thr207Lys,ENST00000508498,;CORIN,missense_variant,p.Thr279Lys,ENST00000502252,;CORIN,intron_variant,,ENST00000610355,NM_001278585.1;CORIN,intron_variant,,ENST00000505909,;CORIN,intron_variant,,ENST00000504584,NM_001278586.1;CORIN,non_coding_transcript_exon_variant,,ENST00000502726,;CORIN,intron_variant,,ENST00000503821,;	T	ENST00000273857	Transcript	missense_variant	1037/4852	1037/3129	346/1042	T/K	aCa/aAa		1		-1	CORIN	HGNC	HGNC:19012	protein_coding	YES	CCDS3477.1	ENSP00000273857	Q9Y5Q5		UPI0000168657	NM_006587.3	tolerated(1)		8/22		Gene3D:4.10.400.10,Pfam_domain:PF00057,PIRSF_domain:PIRSF036376,PROSITE_profiles:PS50068,hmmpanther:PTHR24270,SMART_domains:SM00192,Superfamily_domains:SSF57424																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	47680236	47680236	G	T	1	0	0	0	0	1	0	0	0	3546	1377	48	2		2	CORIN	4	47680236	Missense_Mutation	SNP	G	C3N-01410_TP	31673563	47680236	142534319	60	24454											
FRYL	0	.	GRCh38	chr4	48595902	48595902	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagatactcacctttgAgttacagtgttgctttcaca	12	13	7	9	0	2	2	2	1	0	1	2	2	2	2	1	0	4	4	1	0	3	5	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.1134T>G	p.=	p.T378T	ENST00000358350	14/64	137	123	14	130	129	1	strelka-varscan-mutect	FRYL,synonymous_variant,p.=,ENST00000358350,NM_015030.1;FRYL,synonymous_variant,p.=,ENST00000503238,;FRYL,synonymous_variant,p.=,ENST00000507711,;FRYL,synonymous_variant,p.=,ENST00000506685,;	C	ENST00000358350	Transcript	synonymous_variant	1739/11706	1134/9042	378/3013	T	acT/acG		1		-1	FRYL	HGNC	HGNC:29127	protein_coding	YES	CCDS43227.1	ENSP00000351113	O94915		UPI0000EBC149	NM_015030.1			14/64		Pfam_domain:PF14222,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF9																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	75	48595902	48595902	A	C	1	0	0	0	0	0	0	0	1	5936	318	11	5		5	FRYL	4	48595902	Silent	SNP	A	C3N-01410_TP	915666	48595902	141618653	61	24455											
PDGFRA	0	.	GRCh38	chr4	54267420	54267420	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgcccgccaggctaccagGgaggtcaaagaaatgaagaa	14	4	13	10	1	1	3	1	1	0	2	1	4	1	4	3	3	2	2	3	3	5	1	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.891G>A	p.=	p.R297R	ENST00000257290	6/23	384	313	71	369	369	0	strelka-varscan-mutect	PDGFRA,synonymous_variant,p.=,ENST00000257290,NM_006206.4;RP11-231C18.3,intron_variant,,ENST00000507166,;PDGFRA,downstream_gene_variant,,ENST00000508170,;PDGFRA,downstream_gene_variant,,ENST00000504461,;PDGFRA,downstream_gene_variant,,ENST00000503856,;PDGFRA,downstream_gene_variant,,ENST00000512522,;PDGFRA,synonymous_variant,p.=,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;	A	ENST00000257290	Transcript	synonymous_variant	1222/6576	891/3270	297/1089	R	agG/agA		1		1	PDGFRA	HGNC	HGNC:8803	protein_coding	YES	CCDS3495.1	ENSP00000257290	P16234		UPI0000131793	NM_006206.4			6/23		PROSITE_profiles:PS50835,hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000615,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	75	54267420	54267420	G	A	1	0	0	0	0	0	0	0	1	11749	1223	43	3		3	PDGFRA	4	54267420	Silent	SNP	G	C3N-01410_TP	5671518	54267420	135947135	62	24456											
ADGRL3	0	.	GRCh38	chr4	62070127	62070127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggggcttctgaacaatgCcagggatacaagtgtcatgg	12	8	14	7	0	2	2	1	1	1	1	2	3	2	3	1	4	3	1	1	4	4	2			C3N-01410_TP	C3N-01410_NB	C	C																c.3629C>T	p.Ala1210Val	p.A1210V	ENST00000514591	25/25	96	80	16	94	94	0	strelka-varscan-mutect	ADGRL3,missense_variant,p.Ala1210Val,ENST00000514591,NM_015236.4;ADGRL3,missense_variant,p.Ala1321Val,ENST00000506720,;ADGRL3,missense_variant,p.Ala1312Val,ENST00000506746,;ADGRL3,missense_variant,p.Ala1269Val,ENST00000507625,;ADGRL3,missense_variant,p.Ala1253Val,ENST00000508946,;ADGRL3,missense_variant,p.Ala1244Val,ENST00000514996,;ADGRL3,missense_variant,p.Ala659Val,ENST00000502815,;ADGRL3,synonymous_variant,p.=,ENST00000512091,NM_001322246.1;ADGRL3,synonymous_variant,p.=,ENST00000509896,;ADGRL3,synonymous_variant,p.=,ENST00000511324,;ADGRL3,synonymous_variant,p.=,ENST00000508693,;ADGRL3,synonymous_variant,p.=,ENST00000507164,;ADGRL3,synonymous_variant,p.=,ENST00000506700,;ADGRL3,synonymous_variant,p.=,ENST00000504896,;ADGRL3,synonymous_variant,p.=,ENST00000514157,;ADGRL3-AS1,downstream_gene_variant,,ENST00000506704,;ADGRL3-AS1,downstream_gene_variant,,ENST00000504135,;ADGRL3-AS1,downstream_gene_variant,,ENST00000509461,;	T	ENST00000514591	Transcript	missense_variant	3958/6297	3629/4410	1210/1469	A/V	gCc/gTc	COSM3303208,COSM3303209,COSM3303210	1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4	tolerated(0.09)		25/25		hmmpanther:PTHR12011:SF60,hmmpanther:PTHR12011,Pfam_domain:PF02354											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												T	3	4	75	62070127	62070127	C	T	1	0	0	0	0	1	0	0	0	377	748	26	3		3	ADGRL3	4	62070127	Missense_Mutation	SNP	C	C3N-01410_TP	7802707	62070127	128144428	63	24457											
SLC4A4	0	.	GRCh38	chr4	71339446	71339446	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccccctcagctcttcacGgaactggatgagctgctggc	6	9	11	15	1	3	1	2	1	1	0	4	3	4	3	2	3	4	4	2	3	1	1	rs772559707		C3N-01410_TP	C3N-01410_NB	G	G																c.330G>C	p.=	p.T110T	ENST00000425175	4/25	279	196	83	251	251	0	strelka-varscan-mutect	SLC4A4,synonymous_variant,p.=,ENST00000340595,NM_003759.3;SLC4A4,synonymous_variant,p.=,ENST00000425175,NM_001134742.1;SLC4A4,synonymous_variant,p.=,ENST00000264485,NM_001098484.2;SLC4A4,synonymous_variant,p.=,ENST00000351898,;SLC4A4,synonymous_variant,p.=,ENST00000512686,;SLC4A4,non_coding_transcript_exon_variant,,ENST00000514331,;	C	ENST00000425175	Transcript	synonymous_variant	447/7596	330/3285	110/1094	T	acG/acC	rs772559707	1		1	SLC4A4	HGNC	HGNC:11030	protein_coding	YES	CCDS47071.1	ENSP00000393557	Q9Y6R1	A5JJ20	UPI000152897D	NM_001134742.1			4/25		Gene3D:1hynR00,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF10,Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834																	LOW	1	SNV	5			1										PASS		rs772559707	.												C	2	2	75	71339446	71339446	G	C	1	0	0	0	0	0	0	0	1	14933	1103	39	4		4	SLC4A4	4	71339446	Silent	SNP	G	C3N-01410_TP	9269319	71339446	118875109	64	24458											
PKD2	0	.	GRCh38	chr4	88008163	88008163	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagccgggggcttgggggcTaccacggcgcgggccacccg	4	3	20	14	5	0	0	0	0	0	0	0	1	0	1	4	7	2	2	4	7	1	2	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.430T>G	p.Tyr144Asp	p.Y144D	ENST00000237596	1/15	157	140	17	133	133	0	strelka-varscan-mutect	PKD2,missense_variant,p.Tyr144Asp,ENST00000237596,NM_000297.3;PKD2,upstream_gene_variant,,ENST00000506727,;	G	ENST00000237596	Transcript	missense_variant	496/5056	430/2907	144/968	Y/D	Tac/Gac		1		1	PKD2	HGNC	HGNC:9009	protein_coding	YES	CCDS3627.1	ENSP00000237596	Q13563		UPI000013CA1D	NM_000297.3	tolerated(0.12)		1/15		hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF114																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	75	88008163	88008163	T	G	1	0	0	0	0	1	0	0	0	12062	1522	53	5		5	PKD2	4	88008163	Missense_Mutation	SNP	T	C3N-01410_TP	16668717	88008163	102206392	65	24459											
FAT4	0	.	GRCh38	chr4	125448975	125448975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctttctcctcttacgaGaaacttgatataacagtatt	11	15	4	11	1	2	2	0	1	2	1	4	3	3	2	3	0	3	1	3	0	5	7	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.7959G>T	p.Glu2653Asp	p.E2653D	ENST00000394329	9/17	173	155	18	207	207	0	strelka-varscan-mutect	FAT4,missense_variant,p.Glu2653Asp,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,missense_variant,p.Glu951Asp,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;	T	ENST00000394329	Transcript	missense_variant	7972/16123	7959/14946	2653/4981	E/D	gaG/gaT		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	tolerated(0.61)		9/17		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	75	125448975	125448975	G	T	1	0	0	0	0	1	0	0	0	5552	933	33	2		2	FAT4	4	125448975	Missense_Mutation	SNP	G	C3N-01410_TP	37440812	125448975	64765580	66	24460											
SMAD1	0	.	GRCh38	chr4	145553799	145553799	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tataggagttcatctttattAtgttggaggggaggtgtatg	9	16	14	2	0	2	0	1	0	1	0	2	3	2	3	0	5	0	3	0	5	5	8	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.1013A>G	p.Tyr338Cys	p.Y338C	ENST00000515385	6/7	104	85	19	114	114	0	strelka-varscan-mutect	SMAD1,missense_variant,p.Tyr338Cys,ENST00000515385,;SMAD1,missense_variant,p.Tyr338Cys,ENST00000302085,NM_005900.2;SMAD1,missense_variant,p.Tyr338Cys,ENST00000394092,NM_001003688.1;SMAD1,non_coding_transcript_exon_variant,,ENST00000510948,;SMAD1,non_coding_transcript_exon_variant,,ENST00000511125,;SMAD1,non_coding_transcript_exon_variant,,ENST00000511255,;	G	ENST00000515385	Transcript	missense_variant	1555/2085	1013/1398	338/465	Y/C	tAt/tGt		1		1	SMAD1	HGNC	HGNC:6767	protein_coding	YES	CCDS3765.1	ENSP00000426568	Q15797		UPI0000135A76		deleterious(0.01)		6/7		Gene3D:2.60.200.10,Pfam_domain:PF03166,PROSITE_profiles:PS51076,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF23,SMART_domains:SM00524,Superfamily_domains:SSF49879																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	75	145553799	145553799	A	G	1	0	0	0	0	1	0	0	0	15050	449	16	5		5	SMAD1	4	145553799	Missense_Mutation	SNP	A	C3N-01410_TP	20104824	145553799	44660756	67	24461											
POU4F2	0	.	GRCh38	chr4	146639314	146639314	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgctggtggtggcggcggCggcggcggcggcggcggcgg	2	3	25	11	10	0	0	0	0	0	0	0	0	0	0	0	12	1	1	0	12	1	0			C3N-01410_TP	C3N-01410_NB	C	C																c.174C>T	p.=	p.G58G	ENST00000281321	1/2	95	87	8	150	149	1	varscan-mutect	POU4F2,synonymous_variant,p.=,ENST00000281321,NM_004575.2;	T	ENST00000281321	Transcript	synonymous_variant	422/3144	174/1230	58/409	G	ggC/ggT	COSM5459091	1		1	POU4F2	HGNC	HGNC:9219	protein_coding	YES	CCDS34074.1	ENSP00000281321	Q12837		UPI000013DC6C	NM_004575.2			1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR11636:SF41,hmmpanther:PTHR11636											1						LOW	1	SNV	1		1	1										PASS		rs1444760801	.												T	2	4	75	146639314	146639314	C	T	1	0	0	0	0	0	0	0	1	12395	755	27	1		1	POU4F2	4	146639314	Silent	SNP	C	C3N-01410_TP	1085515	146639314	43575241	68	24462											
GLRA3	0	.	GRCh38	chr4	174644032	174644032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcccattccataggctgtGaagctgaatcggctttccct	7	12	10	12	1	0	2	0	2	0	0	4	2	3	2	3	3	1	3	3	3	3	3	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1149C>T	p.=	p.F383F	ENST00000274093	10/10	117	99	18	86	86	0	strelka-varscan-mutect	GLRA3,synonymous_variant,p.=,ENST00000274093,NM_006529.3;GLRA3,synonymous_variant,p.=,ENST00000340217,NM_001042543.2;	A	ENST00000274093	Transcript	synonymous_variant	1652/8770	1149/1395	383/464	F	ttC/ttT		1		-1	GLRA3	HGNC	HGNC:4328	protein_coding	YES	CCDS3822.1	ENSP00000274093	O75311		UPI0000001C50	NM_006529.3			10/10		hmmpanther:PTHR18945:SF455,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	75	174644032	174644032	G	A	1	0	0	0	0	0	0	0	1	6335	1281	45	3		3	GLRA3	4	174644032	Silent	SNP	G	C3N-01410_TP	28004718	174644032	15570523	69	24463											
TENM3	0	.	GRCh38	chr4	182681888	182681888	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcactgcagtccaggatggGgaggtagcaattgtgaaata	12	9	14	6	0	1	1	1	1	0	0	2	3	2	3	1	4	2	3	1	4	4	3	rs754999907		C3N-01410_TP	C3N-01410_NB	G	G																c.1909G>T	p.Gly637Ter	p.G637*	ENST00000511685	11/28	171	133	38	223	222	1	strelka-varscan-mutect	TENM3,stop_gained,p.Gly637Ter,ENST00000511685,NM_001080477.2;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;TENM3,non_coding_transcript_exon_variant,,ENST00000507737,;	T	ENST00000511685	Transcript	stop_gained	2032/10896	1909/8100	637/2699	G/*	Gga/Tga	rs754999907,COSM3780248	1		1	TENM3	HGNC	HGNC:29944	protein_coding	YES	CCDS47165.1	ENSP00000424226	Q9P273	A0A140VJW8	UPI00006C0820	NM_001080477.2			11/28		Gene3D:2.10.25.10,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,SMART_domains:SM00181											0,1						HIGH	1	SNV	5		0,1	1										PASS		rs754999907	.												T	4	4	75	182681888	182681888	G	T	1	0	0	0	0	0	1	0	0	16173	1233	43	2		2	TENM3	4	182681888	Nonsense_Mutation	SNP	G	C3N-01410_TP	8037856	182681888	7532667	70	24464											
SLC12A7	0	.	GRCh38	chr5	1111938	1111938	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccgctcggcagtctcgtcCccgccgccgtcggcgtgagc	2	7	14	18	8	1	1	0	1	1	0	6	1	3	1	5	2	1	2	5	2	0	0	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.54G>T	p.=	p.G18G	ENST00000264930	1/24	43	37	6	24	24	0	strelka-mutect	SLC12A7,synonymous_variant,p.=,ENST00000264930,NM_006598.2;	A	ENST00000264930	Transcript	synonymous_variant	98/5280	54/3252	18/1083	G	ggG/ggT		1		-1	SLC12A7	HGNC	HGNC:10915	protein_coding	YES	CCDS34129.1	ENSP00000264930	Q9Y666		UPI0000141815	NM_006598.2			1/24																			LOW	1	SNV	1			1										PASS		rs965334624	.												A	2	1	75	1111938	1111938	C	A	1	0	0	0	0	0	0	0	1	14653	610	22	2		2	SLC12A7	5	1111938	Silent	SNP	C	C3N-01410_TP		1111938	180426321	71	24465											
SEMA5A	0	.	GRCh38	chr5	9066490	9066490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gattctctgtcttcccacttCcagcaaattcggatcagcca	9	12	6	14	1	3	0	1	0	2	0	7	2	5	1	3	1	2	1	3	1	1	4	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.2230G>A	p.Glu744Lys	p.E744K	ENST00000382496	17/23	453	329	124	418	418	0	strelka-varscan-mutect	SEMA5A,missense_variant,p.Glu744Lys,ENST00000382496,NM_003966.2;	T	ENST00000382496	Transcript	missense_variant	2896/11762	2230/3225	744/1074	E/K	Gaa/Aaa		1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2	tolerated(0.4)		17/23		hmmpanther:PTHR11036:SF78,hmmpanther:PTHR11036																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	9066490	9066490	C	T	1	0	0	0	0	1	0	0	0	14313	864	30	3		3	SEMA5A	5	9066490	Missense_Mutation	SNP	C	C3N-01410_TP	7954552	9066490	172471769	72	24466											
MARCH6	0	.	GRCh38	chr5	10390432	10390432	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagagagcagatagtccatGggggagcaccaatttggttg	11	9	15	6	0	0	3	0	1	0	2	1	5	1	4	2	3	2	3	2	3	2	3	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.508G>C	p.Gly170Arg	p.G170R	ENST00000274140	6/26	243	177	66	241	241	0	strelka-varscan-mutect	MARCH6,missense_variant,p.Gly170Arg,ENST00000274140,NM_005885.3;MARCH6,missense_variant,p.Gly122Arg,ENST00000449913,NM_001270660.1;MARCH6,missense_variant,p.Gly65Arg,ENST00000503788,NM_001270661.1;MARCH6,non_coding_transcript_exon_variant,,ENST00000507863,;MARCH6,non_coding_transcript_exon_variant,,ENST00000510872,;MARCH6,3_prime_UTR_variant,,ENST00000502795,;MARCH6,non_coding_transcript_exon_variant,,ENST00000511802,;MARCH6,non_coding_transcript_exon_variant,,ENST00000506131,;	C	ENST00000274140	Transcript	missense_variant	640/9569	508/2733	170/910	G/R	Ggg/Cgg		1		1	MARCH6	HGNC	HGNC:30550	protein_coding	YES	CCDS34135.1	ENSP00000274140	O60337		UPI00001B94D6	NM_005885.3	deleterious(0)		6/26		hmmpanther:PTHR13145																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	75	10390432	10390432	G	C	1	0	0	0	0	1	0	0	0	9230	1348	47	4		4	MARCH6	5	10390432	Missense_Mutation	SNP	G	C3N-01410_TP	1323942	10390432	171147827	73	24467											
CDH18	0	.	GRCh38	chr5	19473315	19473315	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggtagtgataatcctGgtctgattgtgtcgttgctg	7	15	12	7	1	1	2	0	2	1	0	4	2	3	2	2	2	1	3	2	2	3	4	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.2284C>G	p.Gln762Glu	p.Q762E	ENST00000507958	15/15	374	276	98	274	274	0	strelka-varscan	CDH18,missense_variant,p.Gln762Glu,ENST00000507958,NM_001291956.1;CDH18,missense_variant,p.Gln762Glu,ENST00000382275,NM_004934.3;CDH18,missense_variant,p.Gln762Glu,ENST00000274170,;CDH18,downstream_gene_variant,,ENST00000506372,NM_001291957.1;CDH18,downstream_gene_variant,,ENST00000502796,NM_001167667.1;CDH18,downstream_gene_variant,,ENST00000515257,;CDH18,non_coding_transcript_exon_variant,,ENST00000510297,;	C	ENST00000507958	Transcript	missense_variant	3275/3542	2284/2373	762/790	Q/E	Cag/Gag		1		-1	CDH18	HGNC	HGNC:1757	protein_coding	YES	CCDS3889.1	ENSP00000425093	Q13634		UPI0000126DBD	NM_001291956.1	tolerated(0.19)		15/15		hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Pfam_domain:PF01049,Gene3D:4.10.900.10																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	75	19473315	19473315	G	C	1	0	0	0	0	1	0	0	0	2806	1357	47	4		4	CDH18	5	19473315	Missense_Mutation	SNP	G	C3N-01410_TP	9082883	19473315	162064944	74	24468											
MROH2B	0	.	GRCh38	chr5	41009982	41009982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtatccatgtgaaagctgGctatctgggagatggcttct	8	13	12	8	0	2	2	0	1	2	1	3	3	3	2	1	3	1	4	1	3	3	3			C3N-01410_TP	C3N-01410_NB	G	G																c.3233C>A	p.Ala1078Asp	p.A1078D	ENST00000399564	31/42	226	169	57	204	204	0	strelka-varscan-mutect	MROH2B,missense_variant,p.Ala1078Asp,ENST00000399564,NM_173489.4;MROH2B,missense_variant,p.Ala633Asp,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;	T	ENST00000399564	Transcript	missense_variant	3684/5239	3233/4758	1078/1585	A/D	gCc/gAc	COSM592491	1		-1	MROH2B	HGNC	HGNC:26857	protein_coding	YES	CCDS47202.1	ENSP00000382476	Q7Z745		UPI000020CA04	NM_173489.4	deleterious(0)		31/42		hmmpanther:PTHR23120:SF22,hmmpanther:PTHR23120,Gene3D:1.25.10.10											1						MODERATE	1	SNV	1		1	1										PASS		rs1343869368	.												T	3	4	75	41009982	41009982	G	T	1	0	0	0	0	1	0	0	0	9745	1203	42	2		2	MROH2B	5	41009982	Missense_Mutation	SNP	G	C3N-01410_TP	21536667	41009982	140528277	75	24469											
AP3B1	0	.	GRCh38	chr5	78227532	78227532	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgaattagttggtttgggtCctaaaaatagtgcaaaaata	16	12	9	4	1	0	0	0	0	0	0	1	1	1	0	1	2	1	3	1	2	9	6	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.376G>T	p.Asp126Tyr	p.D126Y	ENST00000255194	5/27	277	240	37	291	290	1	strelka-varscan	AP3B1,missense_variant,p.Asp126Tyr,ENST00000255194,NM_003664.4;AP3B1,missense_variant,p.Asp77Tyr,ENST00000519295,NM_001271769.1;	A	ENST00000255194	Transcript	missense_variant,splice_region_variant	552/5838	376/3285	126/1094	D/Y	Gac/Tac		1		-1	AP3B1	HGNC	HGNC:566	protein_coding	YES	CCDS4041.1	ENSP00000255194	O00203	A0A0S2Z5J4	UPI00001AE77D	NM_003664.4	deleterious(0)		5/27		Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037096,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	78227532	78227532	C	A	1	0	0	0	0	1	0	0	0	860	869	30	2		2	AP3B1	5	78227532	Missense_Mutation	SNP	C	C3N-01410_TP	37217550	78227532	103310727	76	24470											
CMYA5	0	.	GRCh38	chr5	79737137	79737137	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggatttccatctaaagaatCcgaaaggactttagctcgtc	13	11	8	9	2	1	1	0	0	1	1	5	4	3	3	2	2	1	1	2	2	5	4	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.8372C>A	p.Ser2791Tyr	p.S2791Y	ENST00000446378	2/13	217	180	37	156	156	0	strelka-varscan	CMYA5,missense_variant,p.Ser2791Tyr,ENST00000446378,NM_153610.4;CMYA5,upstream_gene_variant,,ENST00000506603,;	A	ENST00000446378	Transcript	missense_variant	8403/12847	8372/12210	2791/4069	S/Y	tCc/tAc		1		1	CMYA5	HGNC	HGNC:14305	protein_coding	YES	CCDS47238.1	ENSP00000394770	Q8N3K9		UPI00004F9478	NM_153610.4	deleterious(0)		2/13		hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	75	79737137	79737137	C	A	1	0	0	0	0	1	0	0	0	3368	855	30	2		2	CMYA5	5	79737137	Missense_Mutation	SNP	C	C3N-01410_TP	1509605	79737137	101801122	77	24471											
EDIL3	0	.	GRCh38	chr5	84064698	84064698	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatagttaatttgagacttAcccgacagttcacagccaag	15	10	7	9	1	1	1	1	1	0	1	1	3	1	1	2	0	2	2	2	0	5	5	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.952+2T>G		p.X318_splice	ENST00000296591		84	69	15	81	81	0	strelka-varscan	EDIL3,splice_donor_variant,,ENST00000296591,NM_005711.4;EDIL3,splice_donor_variant,,ENST00000380138,NM_001278642.1;EDIL3,splice_donor_variant,,ENST00000510271,;	C	ENST00000296591	Transcript	splice_donor_variant	-/4727	952/1443	318/480				1		-1	EDIL3	HGNC	HGNC:3173	protein_coding	YES	CCDS4062.1	ENSP00000296591	O43854		UPI000004D126	NM_005711.4				8/10																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	75	84064698	84064698	A	C	1	0	0	0	0	0	0	1	0	4743	405	14	5		5	EDIL3	5	84064698	Splice_Site	SNP	A	C3N-01410_TP	4327561	84064698	97473561	78	24472											
CAST	0	.	GRCh38	chr5	96766104	96766104	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggagaaagagatgacactAtcccacctgaatacagacat	16	8	8	9	0	0	5	0	2	0	3	1	7	1	5	2	1	1	0	2	1	4	3	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.1966A>G	p.Ile656Val	p.I656V	ENST00000395812	25/30	171	146	25	149	149	0	strelka-varscan-mutect	CAST,missense_variant,p.Ile656Val,ENST00000395812,NM_001042440.3;CAST,missense_variant,p.Ile614Val,ENST00000395813,;CAST,missense_variant,p.Ile592Val,ENST00000309190,NM_173060.3,NM_001284212.1;CAST,missense_variant,p.Ile366Val,ENST00000437034,;CAST,missense_variant,p.Ile336Val,ENST00000325674,;CAST,missense_variant,p.Ile599Val,ENST00000511049,;CAST,missense_variant,p.Ile601Val,ENST00000338252,NM_001190442.1;CAST,missense_variant,p.Ile697Val,ENST00000508830,;CAST,missense_variant,p.Ile614Val,ENST00000341926,;CAST,missense_variant,p.Ile600Val,ENST00000511782,;CAST,missense_variant,p.Ile660Val,ENST00000508608,;CAST,missense_variant,p.Ile542Val,ENST00000504465,NM_001284213.1;CAST,missense_variant,p.Ile675Val,ENST00000510756,;CAST,missense_variant,p.Ile579Val,ENST00000509903,;CAST,missense_variant,p.Ile614Val,ENST00000510156,;CAST,missense_variant,p.Ile371Val,ENST00000510500,;CAST,missense_variant,p.Ile329Val,ENST00000508579,;CAST,missense_variant,p.Ile337Val,ENST00000515663,;ERAP1,intron_variant,,ENST00000296754,NM_016442.3;CAST,non_coding_transcript_exon_variant,,ENST00000348386,;CAST,missense_variant,p.Ile356Val,ENST00000484552,;CAST,missense_variant,p.Ile109Val,ENST00000510098,;CAST,upstream_gene_variant,,ENST00000509529,;	G	ENST00000395812	Transcript	missense_variant	2152/4506	1966/2253	656/750	I/V	Atc/Gtc		1		1	CAST	HGNC	HGNC:1515	protein_coding	YES	CCDS54882.1	ENSP00000379157	P20810		UPI0000DA4C59	NM_001042440.3	deleterious(0.01)		25/30		hmmpanther:PTHR10077,hmmpanther:PTHR10077:SF0,Pfam_domain:PF00748																	MODERATE	1	SNV	1			1										PASS		rs1265097638	.												G	3	3	75	96766104	96766104	A	G	1	0	0	0	0	1	0	0	0	2383	449	16	5		5	CAST	5	96766104	Missense_Mutation	SNP	A	C3N-01410_TP	12701406	96766104	84772155	79	24473											
MCC	0	.	GRCh38	chr5	113488372	113488372	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgccgccgccgcTgctggagctccccgcagccg	2	3	14	22	8	0	0	0	0	0	0	1	1	1	1	9	1	3	4	9	1	0	0	rs201571604		C3N-01410_TP	C3N-01410_NB	T	T																c.43A>G	p.Ser15Gly	p.S15G	ENST00000408903	1/19	193	179	14	211	209	2	varscan-mutect	MCC,missense_variant,p.Ser15Gly,ENST00000408903,NM_001085377.1;MCC,non_coding_transcript_exon_variant,,ENST00000511242,;	C	ENST00000408903	Transcript	missense_variant	459/3476	43/3060	15/1019	S/G	Agc/Ggc	rs201571604	1		-1	MCC	HGNC	HGNC:6935	protein_coding	YES	CCDS43351.1	ENSP00000386227	P23508		UPI00015E06EA	NM_001085377.1			1/19		hmmpanther:PTHR23347,hmmpanther:PTHR23347:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		rs201571604	.												C	3	2	75	113488372	113488372	T	C	1	0	0	0	0	1	0	0	0	9303	1580	55	5		5	MCC	5	113488372	Missense_Mutation	SNP	T	C3N-01410_TP	16722268	113488372	68049887	80	24474											
DDX46	0	.	GRCh38	chr5	134767047	134767047	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggaaataaaagcaagAaaactgagaataggtaatgt	19	8	10	4	0	0	2	0	1	0	2	1	4	1	3	1	2	2	2	1	2	9	3	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.337A>G	p.Lys113Glu	p.K113E	ENST00000452510	3/23	105	85	20	110	110	0	strelka-varscan	DDX46,missense_variant,p.Lys113Glu,ENST00000452510,NM_001300860.1;DDX46,missense_variant,p.Lys113Glu,ENST00000354283,NM_014829.3;DDX46,intron_variant,,ENST00000628477,;DDX46,intron_variant,,ENST00000507392,;	G	ENST00000452510	Transcript	missense_variant	495/5689	337/3099	113/1032	K/E	Aaa/Gaa		1		1	DDX46	HGNC	HGNC:18681	protein_coding	YES	CCDS75306.1	ENSP00000416534		A0A0C4DG89	UPI000006F4C9	NM_001300860.1	tolerated(0.37)		3/23																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	75	134767047	134767047	A	G	1	0	0	0	0	1	0	0	0	4167	247	9	5		5	DDX46	5	134767047	Missense_Mutation	SNP	A	C3N-01410_TP	21278675	134767047	46771212	81	24475											
PCDHA13	0	.	GRCh38	chr5	140883708	140883708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttcacggtgtctgctcaGgacgcggacgcacaggagaa	10	7	13	11	4	4	1	2	0	2	1	4	4	4	3	0	4	1	2	0	4	1	1	rs782444555		C3N-01410_TP	C3N-01410_NB	G	G																c.1440G>T	p.Gln480His	p.Q480H	ENST00000289272	1/4	619	531	88	544	544	0	strelka-varscan	PCDHA13,missense_variant,p.Gln480His,ENST00000289272,NM_018904.2;PCDHA13,missense_variant,p.Gln480His,ENST00000409494,;PCDHA13,missense_variant,p.Gln480His,ENST00000617769,NM_031865.1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA11,intron_variant,,ENST00000398640,NM_018902.4;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA12,intron_variant,,ENST00000398631,NM_018903.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA11,intron_variant,,ENST00000617408,;AC005609.17,upstream_gene_variant,,ENST00000625195,;	T	ENST00000289272	Transcript	missense_variant	1440/5260	1440/2853	480/950	Q/H	caG/caT	rs782444555	1		1	PCDHA13	HGNC	HGNC:8667	protein_coding	YES	CCDS4240.1	ENSP00000289272	Q9Y5I0		UPI00001273D6	NM_018904.2	tolerated_low_confidence(0.13)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	140883708	140883708	G	T	1	0	0	0	0	1	0	0	0	11610	991	35	2		2	PCDHA13	5	140883708	Missense_Mutation	SNP	G	C3N-01410_TP	6116661	140883708	40654551	82	24476											
PCDHB8	0	.	GRCh38	chr5	141180007	141180007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtgctcggccaccgccaCgctgcacgtgctcctggtgg	3	8	13	17	5	0	0	0	0	0	0	3	0	2	0	5	3	3	4	5	3	0	0	rs781988348		C3N-01410_TP	C3N-01410_NB	C	C																c.1973C>A	p.Thr658Lys	p.T658K	ENST00000239444	1/1	468	347	121	418	418	0	strelka-varscan	PCDHB8,missense_variant,p.Thr658Lys,ENST00000239444,NM_019120.4;PCDHB16,upstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.3;PCDHB16,upstream_gene_variant,,ENST00000625044,;CH17-140K24.5,upstream_gene_variant,,ENST00000623884,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,downstream_gene_variant,,ENST00000624549,;CH17-140K24.7,downstream_gene_variant,,ENST00000624089,;CH17-140K24.4,intron_variant,,ENST00000623995,;CH17-140K24.5,upstream_gene_variant,,ENST00000623407,;	A	ENST00000239444	Transcript	missense_variant	2218/2740	1973/2406	658/801	T/K	aCg/aAg	rs781988348,COSM314002	1		1	PCDHB8	HGNC	HGNC:8693	protein_coding	YES	CCDS4250.1	ENSP00000239444	Q9UN66		UPI000192C41A	NM_019120.4	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1						MODERATE		SNV			0,1	1										PASS		.	.												A	3	1	75	141180007	141180007	C	A	1	0	0	0	0	1	0	0	0	11635	536	19	1		1	PCDHB8	5	141180007	Missense_Mutation	SNP	C	C3N-01410_TP	296299	141180007	40358252	83	24477											
PCDHB12	0	.	GRCh38	chr5	141211132	141211132	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggtggacgtgagtggcaCcgggaccctgtcccagagct	6	8	15	12	2	1	2	0	1	1	1	2	4	2	4	3	4	1	2	3	4	0	0	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.2225C>G	p.Thr742Ser	p.T742S	ENST00000239450	1/1	208	156	52	242	242	0	strelka-varscan	PCDHB12,missense_variant,p.Thr742Ser,ENST00000239450,NM_018932.3;PCDHB12,missense_variant,p.Thr405Ser,ENST00000624949,;PCDHB12,3_prime_UTR_variant,,ENST00000622978,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.3;CH17-140K24.2,intron_variant,,ENST00000624192,;	G	ENST00000239450	Transcript	missense_variant	2414/3853	2225/2388	742/795	T/S	aCc/aGc		1		1	PCDHB12	HGNC	HGNC:8683	protein_coding	YES	CCDS4254.1	ENSP00000239450	Q9Y5F1		UPI000000DAFD	NM_018932.3	deleterious_low_confidence(0.04)		1/1		hmmpanther:PTHR24028:SF59,hmmpanther:PTHR24028,Pfam_domain:PF16492																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	75	141211132	141211132	C	G	1	0	0	0	0	1	0	0	0	11624	507	18	4		4	PCDHB12	5	141211132	Missense_Mutation	SNP	C	C3N-01410_TP	31125	141211132	40327127	84	24478											
SLC36A2	0	.	GRCh38	chr5	151343583	151343583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagcccatcaccagcaGactgagtgggcccatctgga	12	6	11	12	0	2	3	1	2	1	1	2	4	2	4	3	2	2	1	3	2	2	0	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.271C>A	p.Leu91Met	p.L91M	ENST00000335244	3/10	213	174	39	183	183	0	strelka-varscan	SLC36A2,missense_variant,p.Leu91Met,ENST00000335244,NM_181776.2;SLC36A2,missense_variant,p.Leu91Met,ENST00000521967,;SLC36A2,missense_variant,p.Leu91Met,ENST00000518617,;SLC36A2,missense_variant,p.Leu91Met,ENST00000518280,;SLC36A2,non_coding_transcript_exon_variant,,ENST00000522829,;	T	ENST00000335244	Transcript	missense_variant	401/3421	271/1452	91/483	L/M	Ctg/Atg		1		-1	SLC36A2	HGNC	HGNC:18762	protein_coding	YES	CCDS4315.1	ENSP00000334223	Q495M3		UPI000020D008	NM_181776.2	deleterious(0.01)		3/10		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF185,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	151343583	151343583	G	T	1	0	0	0	0	1	0	0	0	14872	933	33	2		2	SLC36A2	5	151343583	Missense_Mutation	SNP	G	C3N-01410_TP	10132451	151343583	30194676	85	24479											
FAM71B	0	.	GRCh38	chr5	157162457	157162457	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctcctctttaaatggatTtggtttcaaagacgatcatc	10	15	8	8	1	3	1	2	0	1	1	5	3	4	2	1	3	0	2	1	3	3	4	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.1808A>T	p.Lys603Ile	p.K603I	ENST00000302938	2/2	97	80	17	89	89	0	strelka-varscan-mutect	FAM71B,missense_variant,p.Lys603Ile,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;MED7,upstream_gene_variant,,ENST00000524289,;	A	ENST00000302938	Transcript	missense_variant	1904/2515	1808/1818	603/605	K/I	aAa/aTa		1		-1	FAM71B	HGNC	HGNC:28397	protein_coding	YES	CCDS4335.1	ENSP00000305596	Q8TC56	A0A140VJJ4	UPI000006F9DC	NM_130899.2	deleterious(0)		2/2		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	157162457	157162457	T	A	1	0	0	0	0	1	0	0	0	5472	1841	64	4		4	FAM71B	5	157162457	Missense_Mutation	SNP	T	C3N-01410_TP	5818874	157162457	24375802	86	24480											
ATP10B	0	.	GRCh38	chr5	160670627	160670627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggatgaagtctcccacgcGcacatccttccagcacttct	8	11	7	15	2	2	1	0	1	2	0	5	2	4	2	3	1	1	2	3	1	1	3	rs185209751		C3N-01410_TP	C3N-01410_NB	G	G																c.511C>A	p.Arg171Ser	p.R171S	ENST00000327245	7/26	204	176	28	207	207	0	strelka-varscan-mutect	ATP10B,missense_variant,p.Arg171Ser,ENST00000327245,NM_025153.2;ATP10B,non_coding_transcript_exon_variant,,ENST00000326831,;ATP10B,non_coding_transcript_exon_variant,,ENST00000517802,;ATP10B,non_coding_transcript_exon_variant,,ENST00000521033,;	T	ENST00000327245	Transcript	missense_variant	1358/7566	511/4386	171/1461	R/S	Cgc/Agc	rs185209751	1		-1	ATP10B	HGNC	HGNC:13543	protein_coding	YES	CCDS43394.1	ENSP00000313600	O94823		UPI0000191DAE	NM_025153.2	tolerated(0.08)		7/26		hmmpanther:PTHR24092:SF79,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122,Gene3D:2.70.150.10,Superfamily_domains:0049471																	MODERATE	1	SNV	1			1										PASS		rs185209751	.												T	3	4	75	160670627	160670627	G	T	1	0	0	0	0	1	0	0	0	1269	1087	38	1		1	ATP10B	5	160670627	Missense_Mutation	SNP	G	C3N-01410_TP	3508170	160670627	20867632	87	24481											
WWC1	0	.	GRCh38	chr5	168464869	168464869	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagctcaaggagcagctGgaacaagccaagagccacgg	15	2	14	10	1	1	1	1	0	0	1	1	4	1	4	2	4	6	3	2	4	5	0	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.3075G>T	p.=	p.L1025L	ENST00000521089	21/23	304	224	80	300	300	0	strelka-varscan-mutect	WWC1,synonymous_variant,p.=,ENST00000265293,NM_015238.2;WWC1,synonymous_variant,p.=,ENST00000393895,;WWC1,synonymous_variant,p.=,ENST00000521089,NM_001161662.1,NM_001161661.1;WWC1,synonymous_variant,p.=,ENST00000524228,;WWC1,synonymous_variant,p.=,ENST00000524038,;WWC1,non_coding_transcript_exon_variant,,ENST00000522140,;WWC1,upstream_gene_variant,,ENST00000521391,;WWC1,upstream_gene_variant,,ENST00000518204,;	T	ENST00000521089	Transcript	synonymous_variant	3078/3562	3075/3360	1025/1119	L	ctG/ctT		1		1	WWC1	HGNC	HGNC:29435	protein_coding	YES	CCDS54945.1	ENSP00000427772	Q8IX03		UPI00017A7149	NM_001161662.1,NM_001161661.1			21/23		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF22																	LOW	1	SNV	2			1										PASS		rs1309751024	.												T	2	4	75	168464869	168464869	G	T	1	0	0	0	0	0	0	0	1	17969	1335	47	2		2	WWC1	5	168464869	Silent	SNP	G	C3N-01410_TP	7794242	168464869	13073390	88	24482											
DOCK2	0	.	GRCh38	chr5	169699453	169699453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccaagggggacagtggagGgcaaggtaaagtgccaatat	13	6	15	7	0	0	0	0	0	0	0	1	2	1	2	2	5	1	2	2	5	6	2	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1127G>T	p.Gly376Val	p.G376V	ENST00000256935	12/52	80	58	22	73	73	0	strelka-varscan-mutect	DOCK2,missense_variant,p.Gly376Val,ENST00000256935,NM_004946.2;DOCK2,upstream_gene_variant,,ENST00000520908,;DOCK2,upstream_gene_variant,,ENST00000540750,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523684,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519734,;DOCK2,missense_variant,p.Gly376Val,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000519223,;	T	ENST00000256935	Transcript	missense_variant	1207/6097	1127/5493	376/1830	G/V	gGg/gTg		1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2	deleterious(0.01)		12/52		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Pfam_domain:PF16172																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	169699453	169699453	G	T	1	0	0	0	0	1	0	0	0	4502	1246	43	2		2	DOCK2	5	169699453	Missense_Mutation	SNP	G	C3N-01410_TP	1234584	169699453	11838806	89	24483											
FGFR4	0	.	GRCh38	chr5	177092425	177092425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggtgtacagcgatgccCagccccacatccagtggctg	9	6	12	14	1	0	0	0	0	0	0	1	1	1	0	4	2	4	3	4	2	2	1	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.832C>A	p.Gln278Lys	p.Q278K	ENST00000292408	7/18	86	53	33	83	82	1	strelka-varscan-mutect	FGFR4,missense_variant,p.Gln278Lys,ENST00000292408,NM_213647.2,NM_002011.4;FGFR4,missense_variant,p.Gln278Lys,ENST00000393648,NM_001291980.1;FGFR4,missense_variant,p.Gln278Lys,ENST00000502906,;FGFR4,missense_variant,p.Gln278Lys,ENST00000393637,NM_022963.3;FGFR4,upstream_gene_variant,,ENST00000511076,;FGFR4,downstream_gene_variant,,ENST00000503708,;FGFR4,downstream_gene_variant,,ENST00000510911,;FGFR4,downstream_gene_variant,,ENST00000513166,;FGFR4,downstream_gene_variant,,ENST00000514472,;FGFR4,downstream_gene_variant,,ENST00000507708,;FGFR4,non_coding_transcript_exon_variant,,ENST00000509511,;FGFR4,non_coding_transcript_exon_variant,,ENST00000508139,;FGFR4,downstream_gene_variant,,ENST00000430285,;FGFR4,downstream_gene_variant,,ENST00000426612,;FGFR4,upstream_gene_variant,,ENST00000483872,;FGFR4,upstream_gene_variant,,ENST00000513423,;	A	ENST00000292408	Transcript	missense_variant	1077/3122	832/2409	278/802	Q/K	Cag/Aag		1		1	FGFR4	HGNC	HGNC:3691	protein_coding	YES	CCDS4410.1	ENSP00000292408	P22455		UPI000012A72D	NM_213647.2,NM_002011.4	deleterious(0.02)		7/18		Gene3D:2.60.40.10,Pfam_domain:PF13927,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF343,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	177092425	177092425	C	A	1	0	0	0	0	1	0	0	0	5732	595	21	2		2	FGFR4	5	177092425	Missense_Mutation	SNP	C	C3N-01410_TP	7392972	177092425	4445834	90	24484											
NSD1	0	.	GRCh38	chr5	177257135	177257135	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctgctaatccagccaaTgtttctgcatctaaaggtat	11	13	7	10	0	2	0	0	0	2	0	3	0	3	0	2	1	4	5	2	1	5	4	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.4950T>G	p.Asn1650Lys	p.N1650K	ENST00000439151	13/23	325	282	43	313	313	0	strelka-varscan-mutect	NSD1,missense_variant,p.Asn1650Lys,ENST00000439151,NM_022455.4;NSD1,missense_variant,p.Asn1381Lys,ENST00000354179,NM_172349.2;NSD1,missense_variant,p.Asn1381Lys,ENST00000347982,;	G	ENST00000439151	Transcript	missense_variant	4995/12892	4950/8091	1650/2696	N/K	aaT/aaG		1		1	NSD1	HGNC	HGNC:14234	protein_coding	YES	CCDS4412.1	ENSP00000395929	Q96L73		UPI000006F9C6	NM_022455.4	tolerated(0.08)		13/23		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312,SMART_domains:SM00249																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	75	177257135	177257135	T	G	1	0	0	0	0	1	0	0	0	10728	1461	51	5		5	NSD1	5	177257135	Missense_Mutation	SNP	T	C3N-01410_TP	164710	177257135	4281124	91	24485											
NSD1	0	.	GRCh38	chr5	177280604	177280604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtacagatcttcactgcaGacttatctgaaataccccgt	11	11	8	11	1	3	3	1	1	2	2	3	3	3	3	2	1	3	2	2	1	4	4	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.5662G>T	p.Asp1888Tyr	p.D1888Y	ENST00000439151	18/23	422	346	76	342	342	0	strelka-varscan-mutect	NSD1,missense_variant,p.Asp1888Tyr,ENST00000439151,NM_022455.4;NSD1,missense_variant,p.Asp1619Tyr,ENST00000354179,NM_172349.2;NSD1,missense_variant,p.Asp1619Tyr,ENST00000347982,;NSD1,downstream_gene_variant,,ENST00000503056,;	T	ENST00000439151	Transcript	missense_variant	5707/12892	5662/8091	1888/2696	D/Y	Gac/Tac		1		1	NSD1	HGNC	HGNC:14234	protein_coding	YES	CCDS4412.1	ENSP00000395929	Q96L73		UPI000006F9C6	NM_022455.4	deleterious(0.01)		18/23		Gene3D:2.170.270.10,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312,Superfamily_domains:SSF82199																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	177280604	177280604	G	T	1	0	0	0	0	1	0	0	0	10728	942	33	2		2	NSD1	5	177280604	Missense_Mutation	SNP	G	C3N-01410_TP	23469	177280604	4257655	92	24486											
DSP	0	.	GRCh38	chr6	7562655	7562655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgtctttgtgtcgcaggcgGagatggacatggtggcctgg	5	12	17	7	2	1	1	0	0	1	1	2	3	1	2	1	6	0	1	1	6	0	2	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.601G>A	p.Glu201Lys	p.E201K	ENST00000379802	5/24	585	386	199	549	549	0	strelka-varscan-mutect	DSP,missense_variant,p.Glu201Lys,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Glu201Lys,ENST00000418664,NM_001008844.1;DSP,non_coding_transcript_exon_variant,,ENST00000506617,;	A	ENST00000379802	Transcript	missense_variant	942/9796	601/8616	201/2871	E/K	Gag/Aag		1		1	DSP	HGNC	HGNC:3052	protein_coding	YES	CCDS4501.1	ENSP00000369129	P15924		UPI000013C67F	NM_004415.2	tolerated(0.16)		5/24		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF234,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	7562655	7562655	G	A	1	0	0	0	0	1	0	0	0	4602	1188	41	3		3	DSP	6	7562655	Missense_Mutation	SNP	G	C3N-01410_TP		7562655	163243324	93	24487											
TRIM10	0	.	GRCh38	chr6	30160749	30160749	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagcgggtaaggcaggccCggcagaagttgtggccgcag	9	5	18	9	3	0	1	0	0	0	1	0	1	0	1	2	5	1	6	2	5	3	3	rs758582202		C3N-01410_TP	C3N-01410_NB	C	C																c.110G>C	p.Arg37Pro	p.R37P	ENST00000449742	1/7	276	194	82	285	285	0	strelka-varscan-mutect	TRIM10,missense_variant,p.Arg37Pro,ENST00000449742,NM_006778.3;TRIM10,missense_variant,p.Arg37Pro,ENST00000376704,NM_052828.2;TRIM15,upstream_gene_variant,,ENST00000619857,;TRIM15,upstream_gene_variant,,ENST00000376694,NM_033229.2;TRIM15,upstream_gene_variant,,ENST00000376688,;	G	ENST00000449742	Transcript	missense_variant	186/3546	110/1446	37/481	R/P	cGg/cCg	rs758582202	1		-1	TRIM10	HGNC	HGNC:10072	protein_coding	YES	CCDS34375.1	ENSP00000397073	Q9UDY6		UPI000000D736	NM_006778.3	deleterious(0)		1/7		Gene3D:3.30.40.10,Pfam_domain:PF15227,PROSITE_patterns:PS00518,PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF329,SMART_domains:SM00184,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		rs758582202	.												G	3	3	75	30160749	30160749	C	G	1	0	0	0	0	1	0	0	0	16975	652	23	4		4	TRIM10	6	30160749	Missense_Mutation	SNP	C	C3N-01410_TP	22598094	30160749	140645230	94	24488											
TCP11	0	.	GRCh38	chr6	35118459	35118459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaatagagaccgctgcacaCcaagaaccaaacagcatttg	16	6	7	12	1	0	2	0	0	0	2	0	3	0	2	3	0	4	3	3	0	5	3	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1361G>T	p.Gly454Val	p.G454V	ENST00000311875	10/10	236	147	89	190	190	0	strelka-varscan-mutect	TCP11,missense_variant,p.Gly454Val,ENST00000311875,NM_001093728.2;TCP11,missense_variant,p.Gly378Val,ENST00000611141,NM_001261821.1,NM_001261820.1;TCP11,missense_variant,p.Gly379Val,ENST00000244645,NM_018679.5;TCP11,missense_variant,p.Gly379Val,ENST00000373979,;TCP11,missense_variant,p.Gly449Val,ENST00000444780,NM_001261817.1;TCP11,missense_variant,p.Gly403Val,ENST00000412155,NM_001261819.1;TCP11,missense_variant,p.Gly408Val,ENST00000373974,NM_001261818.1;TCP11,missense_variant,p.Gly441Val,ENST00000512012,;TCP11,missense_variant,p.Gly378Val,ENST00000418521,;TCP11,intron_variant,,ENST00000502480,;TCP11,downstream_gene_variant,,ENST00000486638,;TCP11,downstream_gene_variant,,ENST00000507706,;TCP11,downstream_gene_variant,,ENST00000492680,;TCP11,downstream_gene_variant,,ENST00000505400,;TCP11,3_prime_UTR_variant,,ENST00000504758,;TCP11,3_prime_UTR_variant,,ENST00000505911,;TCP11,3_prime_UTR_variant,,ENST00000455706,;TCP11,downstream_gene_variant,,ENST00000427376,;TCP11,downstream_gene_variant,,ENST00000469514,;TCP11,downstream_gene_variant,,ENST00000479418,;TCP11,downstream_gene_variant,,ENST00000509988,;TCP11,downstream_gene_variant,,ENST00000505335,;	A	ENST00000311875	Transcript	missense_variant	1779/2166	1361/1551	454/516	G/V	gGt/gTt		1		-1	TCP11	HGNC	HGNC:11658	protein_coding	YES	CCDS47413.1	ENSP00000308708	Q8WWU5	A0A140VK95	UPI0000EE4D7F	NM_001093728.2	deleterious(0)		10/10		Pfam_domain:PF05794,hmmpanther:PTHR12832,hmmpanther:PTHR12832:SF14																	MODERATE	1	SNV	2			1										PASS		rs1353727033	.												A	3	1	75	35118459	35118459	C	A	1	0	0	0	0	1	0	0	0	16120	507	18	2		2	TCP11	6	35118459	Missense_Mutation	SNP	C	C3N-01410_TP	4957710	35118459	135687520	95	24489											
PEX6	0	.	GRCh38	chr6	42965742	42965742	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggccaaagagtccagttCatcaaagaagataatgcatg	15	8	11	7	0	2	3	2	0	0	3	3	3	3	3	2	2	1	2	2	2	4	2	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.2410G>T	p.Glu804Ter	p.E804*	ENST00000304611	13/17	343	238	105	292	291	1	strelka-varscan-mutect	PEX6,stop_gained,p.Glu804Ter,ENST00000304611,NM_000287.3;PEX6,missense_variant,p.Met721Ile,ENST00000244546,;GNMT,downstream_gene_variant,,ENST00000372808,NM_018960.4;	A	ENST00000304611	Transcript	stop_gained	2480/3478	2410/2943	804/980	E/*	Gaa/Taa		1		-1	PEX6	HGNC	HGNC:8859	protein_coding	YES	CCDS4877.1	ENSP00000303511	Q13608	A0A024RD09	UPI00001316EC	NM_000287.3			13/17		Gene3D:3.40.50.300,Pfam_domain:PF00004,hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF9,SMART_domains:SM00382,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	75	42965742	42965742	C	A	1	0	0	0	0	0	1	0	0	11840	835	29	2		2	PEX6	6	42965742	Nonsense_Mutation	SNP	C	C3N-01410_TP	7847283	42965742	127840237	96	24490											
IL17A	0	.	GRCh38	chr6	52189140	52189140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaacgctgatgggaacGtggactaccacatgaactct	12	8	10	11	2	2	2	1	2	1	0	2	4	2	4	1	2	4	2	1	2	4	1	rs745674559		C3N-01410_TP	C3N-01410_NB	G	G																c.316G>A	p.Val106Met	p.V106M	ENST00000340057	3/3	297	260	37	246	244	2	strelka-mutect	IL17A,missense_variant,p.Val106Met,ENST00000340057,NM_002190.2;	A	ENST00000340057	Transcript	missense_variant	361/1859	316/468	106/155	V/M	Gtg/Atg	rs745674559,COSM5139528	1		1	IL17A	HGNC	HGNC:5981	protein_coding	YES	CCDS4937.1	ENSP00000344192	Q16552		UPI0000047D95	NM_002190.2	tolerated(0.23)		3/3		hmmpanther:PTHR21295:SF2,hmmpanther:PTHR21295,Pfam_domain:PF06083,Gene3D:2.10.90.10,Superfamily_domains:SSF57501											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs745674559	.												A	3	1	75	52189140	52189140	G	A	1	0	0	0	0	1	0	0	0	7542	1145	40	1		1	IL17A	6	52189140	Missense_Mutation	SNP	G	C3N-01410_TP	9223398	52189140	118616839	97	24491											
EYS	0	.	GRCh38	chr6	64591297	64591297	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatagcctgatattcacTgggattgaaggcttttgtac	11	14	10	6	0	1	2	1	2	0	0	1	3	1	3	1	2	2	3	1	2	5	8	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.4570A>T	p.Ser1524Cys	p.S1524C	ENST00000370621	26/44	379	266	113	313	313	0	strelka-varscan-mutect	EYS,missense_variant,p.Ser1524Cys,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Ser1524Cys,ENST00000370621,NM_001292009.1;EYS,downstream_gene_variant,,ENST00000330816,;	A	ENST00000370621	Transcript	missense_variant	5097/10485	4570/9498	1524/3165	S/C	Agt/Tgt		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	deleterious(0)		26/44																			MODERATE	1	SNV	1			1										PASS		rs1424789262	.												A	3	1	75	64591297	64591297	T	A	1	0	0	0	0	1	0	0	0	5200	1580	55	4		4	EYS	6	64591297	Missense_Mutation	SNP	T	C3N-01410_TP	12402157	64591297	106214682	98	24492											
EYS	0	.	GRCh38	chr6	64591510	64591510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagttgcacttatggaggCagctataagcaggaatccac	12	9	12	8	0	0	0	0	0	0	0	1	3	1	3	1	4	3	5	1	4	4	4	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.4357G>A	p.Ala1453Thr	p.A1453T	ENST00000370621	26/44	446	383	63	371	369	2	strelka-varscan-mutect	EYS,missense_variant,p.Ala1453Thr,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Ala1453Thr,ENST00000370621,NM_001292009.1;EYS,downstream_gene_variant,,ENST00000330816,;	T	ENST00000370621	Transcript	missense_variant	4884/10485	4357/9498	1453/3165	A/T	Gcc/Acc		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	tolerated(0.13)		26/44																			MODERATE	1	SNV	1			1										PASS		rs761238771	.												T	3	4	75	64591510	64591510	C	T	1	0	0	0	0	1	0	0	0	5200	710	25	3		3	EYS	6	64591510	Missense_Mutation	SNP	C	C3N-01410_TP	213	64591510	106214469	99	24493											
RWDD2A	0	.	GRCh38	chr6	83195896	83195896	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaccatatatatcagcAggacctaaggaaaaagattt	17	9	7	8	0	2	1	2	0	0	1	2	3	2	3	2	2	1	1	2	2	6	5	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.503A>T	p.Gln168Leu	p.Q168L	ENST00000369724	3/3	170	105	65	164	164	0	strelka-varscan-mutect	RWDD2A,missense_variant,p.Gln168Leu,ENST00000369724,NM_001322335.1,NM_033411.3;PGM3,upstream_gene_variant,,ENST00000513973,NM_015599.2;PGM3,upstream_gene_variant,,ENST00000616566,NM_001199918.1;PGM3,upstream_gene_variant,,ENST00000283977,;PGM3,upstream_gene_variant,,ENST00000512866,NM_001199919.1;PGM3,upstream_gene_variant,,ENST00000506587,NM_001199917.1;PGM3,upstream_gene_variant,,ENST00000510258,;PGM3,upstream_gene_variant,,ENST00000508748,;PGM3,upstream_gene_variant,,ENST00000503094,;PGM3,upstream_gene_variant,,ENST00000507554,;PGM3,upstream_gene_variant,,ENST00000515333,;PGM3,upstream_gene_variant,,ENST00000505470,;	T	ENST00000369724	Transcript	missense_variant	708/3744	503/879	168/292	Q/L	cAg/cTg		1		1	RWDD2A	HGNC	HGNC:21385	protein_coding	YES	CCDS4998.1	ENSP00000358739	Q9UIY3		UPI0000139BF2	NM_001322335.1,NM_033411.3	deleterious(0.01)		3/3		hmmpanther:PTHR15955:SF2,hmmpanther:PTHR15955,PIRSF_domain:PIRSF038021,Pfam_domain:PF06544																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	83195896	83195896	A	T	1	0	0	0	0	1	0	0	0	14016	188	7	4		4	RWDD2A	6	83195896	Missense_Mutation	SNP	A	C3N-01410_TP	18604386	83195896	87610083	100	24494											
TBX18	0	.	GRCh38	chr6	84744267	84744267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcactaaggcccacctgttgCgcccggagtctcggaagcct	7	8	11	15	3	2	0	1	0	1	0	3	2	2	2	4	3	2	1	4	3	2	2	rs372777291		C3N-01410_TP	C3N-01410_NB	C	C																c.998G>C	p.Arg333Pro	p.R333P	ENST00000369663	6/8	175	115	60	242	242	0	strelka-varscan-mutect	TBX18,missense_variant,p.Arg333Pro,ENST00000369663,NM_001080508.2;TBX18,missense_variant,p.Arg175Pro,ENST00000606784,;TBX18,missense_variant,p.Arg175Pro,ENST00000606325,;TBX18,non_coding_transcript_exon_variant,,ENST00000606521,;TBX18,upstream_gene_variant,,ENST00000607343,;	G	ENST00000369663	Transcript	missense_variant	1336/6245	998/1824	333/607	R/P	cGc/cCc	rs372777291,COSM1082160	1		-1	TBX18	HGNC	HGNC:11595	protein_coding	YES	CCDS34495.1	ENSP00000358677	O95935		UPI00001A3A8A	NM_001080508.2	deleterious(0.01)		6/8		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF20,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs372777291	.												G	3	3	75	84744267	84744267	C	G	1	0	0	0	0	1	0	0	0	16058	768	27	4		4	TBX18	6	84744267	Missense_Mutation	SNP	C	C3N-01410_TP	1548371	84744267	86061712	101	24495											
SYNE1	0	.	GRCh38	chr6	152442129	152442129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggccatccagtgtgctCtccagcttccgcagctcctc	5	10	8	18	1	1	0	0	0	1	0	7	0	5	0	6	1	3	4	6	1	0	1	rs752836961		C3N-01410_TP	C3N-01410_NB	C	C																c.3954G>T	p.Glu1318Asp	p.E1318D	ENST00000367255	31/146	255	199	56	295	295	0	strelka-varscan-mutect	SYNE1,missense_variant,p.Glu1318Asp,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Glu1325Asp,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Glu1367Asp,ENST00000341594,;SYNE1,missense_variant,p.Glu1308Asp,ENST00000367248,;SYNE1,missense_variant,p.Glu1318Asp,ENST00000367253,;SYNE1,missense_variant,p.Glu1318Asp,ENST00000413186,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;	A	ENST00000367255	Transcript	missense_variant	4556/27748	3954/26394	1318/8797	E/D	gaG/gaT	rs752836961	1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			31/146		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267																	MODERATE	1	SNV	1			1										PASS		rs752836961	.												A	3	1	75	152442129	152442129	C	A	1	0	0	0	0	1	0	0	0	15837	912	32	2		2	SYNE1	6	152442129	Missense_Mutation	SNP	C	C3N-01410_TP	67697862	152442129	18363850	102	24496											
HDAC9	0	.	GRCh38	chr7	18585455	18585455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagaagcagcttctgatagCagagtttcagaaacagcatg	14	8	10	9	0	2	4	1	1	1	3	2	4	2	4	1	0	5	5	1	0	3	3	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.197C>A	p.Ala66Glu	p.A66E	ENST00000441542	2/25	395	337	58	324	324	0	strelka-varscan-mutect	HDAC9,missense_variant,p.Ala66Glu,ENST00000406451,NM_001321897.1,NM_178423.1;HDAC9,missense_variant,p.Ala66Glu,ENST00000622668,NM_001321879.1,NM_001321885.1,NM_001321893.1,NM_001321891.1,NM_001321894.1,NM_001204146.1;HDAC9,missense_variant,p.Ala66Glu,ENST00000405010,NM_001321869.1,NM_001321870.1,NM_001321874.1,NM_001321875.1,NM_001321884.1,NM_001321886.1,NM_001321887.1,NM_001321890.1,NM_001321899.1,NM_001321900.1,NM_001321901.1,NM_001321902.1,NM_014707.1;HDAC9,missense_variant,p.Ala94Glu,ENST00000406072,NM_001321871.1,NM_001321872.1,NM_001321873.1,NM_001321888.1,NM_001321895.1,NM_001321898.1;HDAC9,missense_variant,p.Ala66Glu,ENST00000401921,;HDAC9,missense_variant,p.Ala66Glu,ENST00000441542,NM_178425.2;HDAC9,missense_variant,p.Ala66Glu,ENST00000432645,NM_058176.2;HDAC9,missense_variant,p.Ala108Glu,ENST00000417496,NM_001204144.1;HDAC9,missense_variant,p.Ala66Glu,ENST00000428307,NM_001204145.1;HDAC9,missense_variant,p.Ala35Glu,ENST00000456174,NM_001204148.1;HDAC9,missense_variant,p.Ala35Glu,ENST00000524023,NM_001204147.1;HDAC9,missense_variant,p.Ala66Glu,ENST00000413380,;HDAC9,missense_variant,p.Ala35Glu,ENST00000441986,;HDAC9,missense_variant,p.Ala66Glu,ENST00000413509,;HDAC9,missense_variant,p.Ala35Glu,ENST00000430454,;HDAC9,downstream_gene_variant,,ENST00000433709,;HDAC9,non_coding_transcript_exon_variant,,ENST00000476135,;HDAC9,3_prime_UTR_variant,,ENST00000446646,;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,non_coding_transcript_exon_variant,,ENST00000461159,;	A	ENST00000441542	Transcript	missense_variant	197/3210	197/3210	66/1069	A/E	gCa/gAa		1		1	HDAC9	HGNC	HGNC:14065	protein_coding	YES	CCDS47553.1	ENSP00000408617	Q9UKV0		UPI000019AB75	NM_178425.2	deleterious(0.01)		2/25		Pfam_domain:PF12203,PIRSF_domain:PIRSF037911,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	18585455	18585455	C	A	1	0	0	0	0	1	0	0	0	6901	710	25	2		2	HDAC9	7	18585455	Missense_Mutation	SNP	C	C3N-01410_TP		18585455	140760518	103	24497											
POM121L12	0	.	GRCh38	chr7	53036497	53036497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcgacaacgccttcctgcGgcagctgcagtagggtctcc	7	7	13	14	3	1	0	0	0	1	0	3	1	2	0	3	3	4	4	3	3	2	2	rs765574512		C3N-01410_TP	C3N-01410_NB	G	G																c.826G>A	p.Gly276Ser	p.G276S	ENST00000408890	1/1	129	103	26	126	126	0	strelka-varscan-mutect	POM121L12,missense_variant,p.Gly276Ser,ENST00000408890,NM_182595.3;	A	ENST00000408890	Transcript	missense_variant	856/1283	826/891	276/296	G/S	Ggc/Agc	rs765574512	1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3	deleterious_low_confidence(0.02)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30																	MODERATE	1	SNV				1										PASS		rs765574512	.												A	3	1	75	53036497	53036497	G	A	1	0	0	0	0	1	0	0	0	12352	1116	39	1		1	POM121L12	7	53036497	Missense_Mutation	SNP	G	C3N-01410_TP	34451042	53036497	106309476	104	24498											
SEPT14	0	.	GRCh38	chr7	55807207	55807207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagattttccatattggtaCaaagaagcatatctcggagc	13	13	8	7	1	1	2	0	0	1	2	3	3	2	3	1	2	3	2	1	2	6	7	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.869G>A	p.Cys290Tyr	p.C290Y	ENST00000388975	8/10	143	125	18	165	163	2	strelka-varscan-mutect	SEPT14,missense_variant,p.Cys290Tyr,ENST00000388975,NM_207366.2;RP11-419M24.1,downstream_gene_variant,,ENST00000443044,;	T	ENST00000388975	Transcript	missense_variant	986/3785	869/1299	290/432	C/Y	tGt/tAt		1		-1	SEPT14	HGNC	HGNC:33280	protein_coding	YES	CCDS5519.2	ENSP00000373627	Q6ZU15		UPI0000E0AB69	NM_207366.2	tolerated(0.06)		8/10		PROSITE_profiles:PS51719,hmmpanther:PTHR18884:SF51,hmmpanther:PTHR18884,Pfam_domain:PF00735,PIRSF_domain:PIRSF006698																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	75	55807207	55807207	C	T	1	0	0	0	0	1	0	0	0	14339	478	17	3		3	SEPT14	7	55807207	Missense_Mutation	SNP	C	C3N-01410_TP	2770710	55807207	103538766	105	24499											
WBSCR28	0	.	GRCh38	chr7	73865763	73865763	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagctggccgaggcccagGaggttgaaccccaggaggtc	8	4	15	14	1	0	1	0	1	0	0	1	4	0	3	5	6	2	2	5	6	1	1			C3N-01410_TP	C3N-01410_NB	G	G																c.688G>T	p.Glu230Ter	p.E230*	ENST00000320531	3/3	303	260	43	282	282	0	strelka-varscan-mutect	WBSCR28,stop_gained,p.Glu230Ter,ENST00000320531,NM_182504.3;WBSCR28,3_prime_UTR_variant,,ENST00000426490,;	T	ENST00000320531	Transcript	stop_gained	724/854	688/798	230/265	E/*	Gag/Tag	COSM3640406	1		1	WBSCR28	HGNC	HGNC:23018	protein_coding	YES	CCDS43597.1	ENSP00000316775	Q6UE05		UPI00001408E5	NM_182504.3			3/3		hmmpanther:PTHR37369,Pfam_domain:PF15164											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	75	73865763	73865763	G	T	1	0	0	0	0	0	1	0	0	17826	1175	41	2		2	WBSCR28	7	73865763	Nonsense_Mutation	SNP	G	C3N-01410_TP	18058556	73865763	85480210	106	24500											
PCLO	0	.	GRCh38	chr7	82822547	82822547	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggcagcagctatggcagcCcctgcatcttccaggtgggt	6	9	13	13	1	1	0	0	0	1	0	3	0	2	0	3	4	4	5	3	4	1	2	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.14739G>T	p.=	p.G4913G	ENST00000333891	20/25	475	326	149	428	426	2	strelka-varscan-mutect	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,synonymous_variant,p.=,ENST00000618073,;PCLO,non_coding_transcript_exon_variant,,ENST00000426442,;PCLO,non_coding_transcript_exon_variant,,ENST00000432078,;	A	ENST00000333891	Transcript	synonymous_variant	15077/20329	14739/15429	4913/5142	G	ggG/ggT		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5			20/25		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	75	82822547	82822547	C	A	1	0	0	0	0	0	0	0	1	11671	610	22	2		2	PCLO	7	82822547	Silent	SNP	C	C3N-01410_TP	8956784	82822547	76523426	107	24501											
FZD1	0	.	GRCh38	chr7	91266575	91266575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggccttccgggaccagtgGgaacgcagctgggtggccca	7	5	16	13	2	0	0	0	0	0	0	1	2	1	2	4	5	2	2	4	5	1	1	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1695G>T	p.Trp565Cys	p.W565C	ENST00000287934	1/1	194	160	34	176	176	0	strelka-varscan-mutect	FZD1,missense_variant,p.Trp565Cys,ENST00000287934,NM_003505.1;	T	ENST00000287934	Transcript	missense_variant	2212/6963	1695/1944	565/647	W/C	tgG/tgT		1		1	FZD1	HGNC	HGNC:4038	protein_coding	YES	CCDS5620.1	ENSP00000287934	Q9UP38		UPI000005104D	NM_003505.1	deleterious(0)		1/1		PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF81,Pfam_domain:PF01534,SMART_domains:SM01330																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	75	91266575	91266575	G	T	1	0	0	0	0	1	0	0	0	5999	1241	43	2		2	FZD1	7	91266575	Missense_Mutation	SNP	G	C3N-01410_TP	8444028	91266575	68079398	108	24502											
ZAN	0	.	GRCh38	chr7	100750867	100750867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaacacctccgtcaccGtcccctcaggacaccaacag	11	4	8	18	2	2	1	2	0	0	1	4	2	4	2	6	2	2	1	6	2	2	0			C3N-01410_TP	C3N-01410_NB	G	G																c.1492G>A	p.Val498Ile	p.V498I	ENST00000613979	12/48	49	40	9	34	34	0	strelka-varscan-mutect	ZAN,missense_variant,p.Val498Ile,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Val498Ile,ENST00000618565,;ZAN,missense_variant,p.Val498Ile,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Val498Ile,ENST00000546292,;ZAN,missense_variant,p.Val498Ile,ENST00000542585,;ZAN,missense_variant,p.Val498Ile,ENST00000538115,;ZAN,missense_variant,p.Val498Ile,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,;	A	ENST00000613979	Transcript	missense_variant	1657/8669	1492/8439	498/2812	V/I	Gtc/Atc	COSM5165912	1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.2	tolerated(1)		12/48		Pfam_domain:PF00629,PROSITE_profiles:PS50060,SMART_domains:SM00137,Superfamily_domains:SSF49899											1						MODERATE	1	SNV	1		1	1										PASS		rs1301080537	.												A	3	1	75	100750867	100750867	G	A	1	0	0	0	0	1	0	0	0	18074	1145	40	1		1	ZAN	7	100750867	Missense_Mutation	SNP	G	C3N-01410_TP	9484292	100750867	58595106	109	24503											
CDHR3	0	.	GRCh38	chr7	106017928	106017928	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tactccatctccactggaggGgccagcctccagtatccaaa	10	8	8	15	0	1	0	0	0	1	0	5	1	4	1	6	3	2	1	6	3	3	2	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1509G>T	p.=	p.G503G	ENST00000317716	12/19	258	176	82	253	253	0	strelka-varscan-mutect	CDHR3,synonymous_variant,p.=,ENST00000317716,NM_152750.4;CDHR3,synonymous_variant,p.=,ENST00000478080,NM_001301161.1;CDHR3,intron_variant,,ENST00000466045,;CDHR3,intron_variant,,ENST00000468477,;CDHR3,intron_variant,,ENST00000470188,;CDHR3,downstream_gene_variant,,ENST00000496633,;	T	ENST00000317716	Transcript	synonymous_variant	1589/3813	1509/2658	503/885	G	ggG/ggT		1		1	CDHR3	HGNC	HGNC:26308	protein_coding	YES	CCDS47684.1	ENSP00000325954	Q6ZTQ4		UPI00001C0C6E	NM_152750.4			12/19		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF336,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs1359852987	.												T	2	4	75	106017928	106017928	G	T	1	0	0	0	0	0	0	0	1	2823	1219	43	2		2	CDHR3	7	106017928	Silent	SNP	G	C3N-01410_TP	5267061	106017928	53328045	110	24504											
NRCAM	0	.	GRCh38	chr7	108191270	108191270	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccgtaaacgggagctggAgttggagtaggagctagaaa	13	8	15	5	2	0	1	0	0	0	1	0	5	0	5	1	4	4	5	1	4	6	5	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.1917T>A	p.=	p.T639T	ENST00000379028	19/33	177	126	51	211	211	0	strelka-varscan-mutect	NRCAM,synonymous_variant,p.=,ENST00000379028,;NRCAM,synonymous_variant,p.=,ENST00000413765,NM_001193582.1;NRCAM,synonymous_variant,p.=,ENST00000379024,NM_001193583.1,NM_001193584.1;NRCAM,synonymous_variant,p.=,ENST00000425651,NM_001037132.2;NRCAM,synonymous_variant,p.=,ENST00000379022,;NRCAM,intron_variant,,ENST00000351718,NM_005010.4;NRCAM,intron_variant,,ENST00000613830,;	T	ENST00000379028	Transcript	synonymous_variant	2403/6685	1917/3915	639/1304	T	acT/acA		1		-1	NRCAM	HGNC	HGNC:7994	protein_coding	YES	CCDS47686.1	ENSP00000368314	Q92823		UPI00005E2661				19/33		Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF42,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	75	108191270	108191270	A	T	1	0	0	0	0	0	0	0	1	10700	291	11	4		4	NRCAM	7	108191270	Silent	SNP	A	C3N-01410_TP	2173342	108191270	51154703	111	24505											
CFTR	0	.	GRCh38	chr7	117594988	117594988	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactacatggaacacataccTtcgatatattactgtccaca	14	11	5	11	1	0	0	0	0	0	0	2	3	1	1	2	1	4	0	2	1	6	6	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.2549T>A	p.Leu850His	p.L850H	ENST00000003084	15/27	326	269	57	362	362	0	strelka-varscan-mutect	CFTR,missense_variant,p.Leu850His,ENST00000003084,NM_000492.3;CFTR,missense_variant,p.Leu820His,ENST00000426809,;	A	ENST00000003084	Transcript	missense_variant	2681/6132	2549/4443	850/1480	L/H	cTt/cAt		1		1	CFTR	HGNC	HGNC:1884	protein_coding	YES	CCDS5773.1	ENSP00000003084	P13569	A0A024R730	UPI000013C4D4	NM_000492.3	deleterious(0)		15/27		Prints_domain:PR01851,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF19,Superfamily_domains:SSF90123,TIGRFAM_domain:TIGR01271																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	117594988	117594988	T	A	1	0	0	0	0	1	0	0	0	3052	1609	56	4		4	CFTR	7	117594988	Missense_Mutation	SNP	T	C3N-01410_TP	9403718	117594988	41750985	112	24506											
POT1	0	.	GRCh38	chr7	124853123	124853123	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtatgaaggctatagattcTaagaaagcttccaacctaaa	16	10	8	7	0	1	3	0	1	1	2	2	3	2	3	2	2	2	3	2	2	9	7	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.718A>T	p.Arg240Ter	p.R240*	ENST00000357628	10/19	102	65	37	103	103	0	strelka-varscan-mutect	POT1,stop_gained,p.Arg240Ter,ENST00000357628,NM_015450.2;POT1,stop_gained,p.Arg109Ter,ENST00000393329,NM_001042594.1;POT1,stop_gained,p.Arg38Ter,ENST00000610141,;POT1,stop_gained,p.Arg240Ter,ENST00000609106,;POT1,stop_gained,p.Arg240Ter,ENST00000608057,;POT1,stop_gained,p.Arg240Ter,ENST00000607932,;POT1,non_coding_transcript_exon_variant,,ENST00000608126,;	A	ENST00000357628	Transcript	stop_gained	1317/4080	718/1905	240/634	R/*	Aga/Tga		1		-1	POT1	HGNC	HGNC:17284	protein_coding	YES	CCDS5793.1	ENSP00000350249	Q9NUX5	A0A024R739	UPI0000073E3F	NM_015450.2			10/19		Gene3D:1xjvA02,Pfam_domain:PF16686,hmmpanther:PTHR14513,hmmpanther:PTHR14513:SF2,Superfamily_domains:SSF50249																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	75	124853123	124853123	T	A	1	0	0	0	0	0	1	0	0	12374	1530	53	4		4	POT1	7	124853123	Nonsense_Mutation	SNP	T	C3N-01410_TP	7258135	124853123	34492850	113	24507											
MGAM2	0	.	GRCh38	chr7	142187813	142187813	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgcagcaatgaaatgctaAataacccaccctatatgcca	15	8	6	12	0	0	1	0	1	0	0	0	1	0	1	3	0	5	4	3	0	7	4	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.4186A>C	p.Asn1396His	p.N1396H	ENST00000477922	36/48	130	116	14	116	116	0	strelka-varscan-mutect	MGAM2,missense_variant,p.Asn1396His,ENST00000477922,NM_001293626.1;MGAM2,non_coding_transcript_exon_variant,,ENST00000496337,;	C	ENST00000477922	Transcript	missense_variant	4240/7867	4186/7548	1396/2515	N/H	Aat/Cat		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	deleterious(0.01)		36/48		Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF55																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	75	142187813	142187813	A	C	1	0	0	0	0	1	0	0	0	9500	14	1	5		5	MGAM2	7	142187813	Missense_Mutation	SNP	A	C3N-01410_TP	17334690	142187813	17158160	114	24508											
TNKS	0	.	GRCh38	chr8	9751777	9751777	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcactggccctttagcaGagttggccgtaggaggagcc	8	8	13	12	1	1	1	1	0	0	1	1	3	1	3	4	4	2	3	4	4	2	4	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.3001G>T	p.Glu1001Ter	p.E1001*	ENST00000310430	19/27	403	197	206	280	280	0	strelka-varscan-mutect	TNKS,stop_gained,p.Glu1001Ter,ENST00000310430,NM_003747.2;TNKS,stop_gained,p.Glu764Ter,ENST00000518281,;TNKS,downstream_gene_variant,,ENST00000519191,;TNKS,downstream_gene_variant,,ENST00000518635,;	T	ENST00000310430	Transcript	stop_gained	3027/9620	3001/3984	1001/1327	E/*	Gag/Tag		1		1	TNKS	HGNC	HGNC:11941	protein_coding	YES	CCDS5974.1	ENSP00000311579	O95271		UPI000013F00D	NM_003747.2			19/27		hmmpanther:PTHR24180,hmmpanther:PTHR24180:SF3																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	75	9751777	9751777	G	T	1	0	0	0	0	0	1	0	0	16792	943	33	2		2	TNKS	8	9751777	Nonsense_Mutation	SNP	G	C3N-01410_TP		9751777	135386859	115	24509											
DEFB135	0	.	GRCh38	chr8	11984512	11984512	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaaatgtctaaaaaacgaAcaatatcgtattttgtgtga	17	12	6	6	2	1	1	0	1	1	0	2	2	1	1	1	0	2	1	1	0	9	5	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.156A>T	p.Glu52Asp	p.E52D	ENST00000382208	2/2	89	81	8	53	53	0	strelka-varscan-mutect	DEFB135,missense_variant,p.Glu52Asp,ENST00000382208,NM_001033017.2;	T	ENST00000382208	Transcript	missense_variant	156/234	156/234	52/77	E/D	gaA/gaT		1		1	DEFB135	HGNC	HGNC:32400	protein_coding	YES	CCDS43710.1	ENSP00000371643	Q30KP9		UPI0000591BA1	NM_001033017.2	deleterious(0)		2/2		hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF21,Pfam_domain:PF13841,PD866254																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	11984512	11984512	A	T	1	0	0	0	0	1	0	0	0	4223	40	2	4		4	DEFB135	8	11984512	Missense_Mutation	SNP	A	C3N-01410_TP	2232735	11984512	133154124	116	24510											
REEP4	0	.	GRCh38	chr8	22139051	22139051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcagcctgccggccagcGccccctgactctgcgagggg	4	5	14	18	4	1	1	0	1	1	0	2	2	2	1	6	3	4	1	6	3	0	0	rs756827594		C3N-01410_TP	C3N-01410_NB	G	G																c.428C>A	p.Ala143Glu	p.A143E	ENST00000306306	6/8	54	44	10	35	35	0	strelka-varscan-mutect	REEP4,missense_variant,p.Ala143Glu,ENST00000306306,NM_025232.2;REEP4,missense_variant,p.Ala143Glu,ENST00000523293,;REEP4,intron_variant,,ENST00000334530,NM_001316965.1;REEP4,downstream_gene_variant,,ENST00000521744,;REEP4,non_coding_transcript_exon_variant,,ENST00000519074,;REEP4,non_coding_transcript_exon_variant,,ENST00000518664,;REEP4,downstream_gene_variant,,ENST00000519875,;	T	ENST00000306306	Transcript	missense_variant	897/1710	428/774	143/257	A/E	gCg/gAg	rs756827594	1		-1	REEP4	HGNC	HGNC:26176	protein_coding	YES	CCDS6024.1	ENSP00000303482	Q9H6H4		UPI000006E42E	NM_025232.2	deleterious(0)		6/8		hmmpanther:PTHR12300,hmmpanther:PTHR12300:SF36																	MODERATE	1	SNV	1			1										PASS		rs756827594	.												T	3	4	75	22139051	22139051	G	T	1	0	0	0	0	1	0	0	0	13377	1087	38	1		1	REEP4	8	22139051	Missense_Mutation	SNP	G	C3N-01410_TP	10154539	22139051	122999585	117	24511											
SFTPC	0	.	GRCh38	chr8	22163774	22163774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctgactctagcacaGcccctctttactgatgagaa	9	12	8	12	0	3	3	0	3	3	1	3	4	3	3	2	1	3	2	2	1	3	4	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.440G>A	p.Ser147Asn	p.S147N	ENST00000437090	5/5	410	366	44	302	302	0	strelka-varscan-mutect	SFTPC,missense_variant,p.Ser147Asn,ENST00000437090,;SFTPC,3_prime_UTR_variant,,ENST00000522109,;SFTPC,intron_variant,,ENST00000521315,NM_001172357.1;SFTPC,intron_variant,,ENST00000318561,NM_001317778.1,NM_001317780.1,NM_003018.3,NM_001172410.1;SFTPC,intron_variant,,ENST00000524255,;SFTPC,intron_variant,,ENST00000520605,;SFTPC,intron_variant,,ENST00000523296,;BMP1,upstream_gene_variant,,ENST00000306385,NM_006129.4;BMP1,upstream_gene_variant,,ENST00000354870,;BMP1,upstream_gene_variant,,ENST00000306349,NM_001199.3;BMP1,upstream_gene_variant,,ENST00000397814,;SFTPC,downstream_gene_variant,,ENST00000522880,;SFTPC,downstream_gene_variant,,ENST00000524318,;SFTPC,downstream_gene_variant,,ENST00000524350,;BMP1,upstream_gene_variant,,ENST00000520970,;BMP1,upstream_gene_variant,,ENST00000520626,;BMP1,upstream_gene_variant,,ENST00000520982,;BMP1,upstream_gene_variant,,ENST00000471755,;BMP1,upstream_gene_variant,,ENST00000518913,;BMP1,upstream_gene_variant,,ENST00000483364,;BMP1,upstream_gene_variant,,ENST00000521385,;BMP1,upstream_gene_variant,,ENST00000518656,;SFTPC,downstream_gene_variant,,ENST00000518615,;SFTPC,downstream_gene_variant,,ENST00000522630,;	A	ENST00000437090	Transcript	missense_variant	471/773	440/486	147/161	S/N	aGc/aAc		1		1	SFTPC	HGNC	HGNC:10802	protein_coding			ENSP00000407931		C9JYF6	UPI000020FCC2		tolerated_low_confidence(0.2)		5/5		PROSITE_profiles:PS50869,hmmpanther:PTHR10800,SMART_domains:SM00019,SMART_domains:SM01039																	MODERATE		SNV	3			1										PASS		.	.												A	3	1	75	22163774	22163774	G	A	1	0	0	0	0	1	0	0	0	14452	985	34	3		3	SFTPC	8	22163774	Missense_Mutation	SNP	G	C3N-01410_TP	24723	22163774	122974862	118	24512											
FUT10	0	.	GRCh38	chr8	33461401	33461401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagcagaaagacggtggCtgtgacgcacaggcaagatg	14	4	15	8	2	0	4	0	1	0	3	0	5	0	4	0	3	1	4	0	3	3	0	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.52G>A	p.Ala18Thr	p.A18T	ENST00000327671	2/5	101	84	17	56	56	0	strelka-varscan-mutect	FUT10,missense_variant,p.Ala18Thr,ENST00000327671,NM_032664.3;FUT10,intron_variant,,ENST00000518672,;FUT10,intron_variant,,ENST00000524021,;FUT10,non_coding_transcript_exon_variant,,ENST00000520503,;FUT10,non_coding_transcript_exon_variant,,ENST00000416169,;FUT10,non_coding_transcript_exon_variant,,ENST00000520767,;	T	ENST00000327671	Transcript	missense_variant	684/3825	52/1440	18/479	A/T	Gcc/Acc		1		-1	FUT10	HGNC	HGNC:19234	protein_coding	YES	CCDS6088.1	ENSP00000332757	Q6P4F1		UPI00001C0364	NM_032664.3	tolerated(0.13)		2/5		PIRSF_domain:PIRSF037332,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	33461401	33461401	C	T	1	0	0	0	0	1	0	0	0	5974	797	28	3		3	FUT10	8	33461401	Missense_Mutation	SNP	C	C3N-01410_TP	11297627	33461401	111677235	119	24513											
RGS20	0	.	GRCh38	chr8	53879274	53879274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtccttcccgcctgcacAgctcccagactcgcccgccg	5	6	8	22	4	0	1	0	0	0	1	4	1	3	1	7	0	2	2	7	0	0	1	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.182A>G	p.Gln61Arg	p.Q61R	ENST00000297313	2/6	541	500	41	243	243	0	strelka-varscan-mutect	RGS20,missense_variant,p.Gln61Arg,ENST00000297313,NM_170587.3;RGS20,intron_variant,,ENST00000344277,NM_001286673.1;RGS20,upstream_gene_variant,,ENST00000276500,NM_003702.4;RGS20,upstream_gene_variant,,ENST00000522225,;RP11-1070A24.2,upstream_gene_variant,,ENST00000606037,;RGS20,upstream_gene_variant,,ENST00000523414,;RGS20,upstream_gene_variant,,ENST00000523064,;RGS20,upstream_gene_variant,,ENST00000518286,;RGS20,intron_variant,,ENST00000517659,NM_001286675.1;RGS20,intron_variant,,ENST00000523280,NM_001286674.1;	G	ENST00000297313	Transcript	missense_variant	274/2104	182/1167	61/388	Q/R	cAg/cGg		1		1	RGS20	HGNC	HGNC:14600	protein_coding	YES	CCDS6155.1	ENSP00000297313	O76081		UPI000013383C	NM_170587.3	tolerated_low_confidence(0.26)		2/6																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	75	53879274	53879274	A	G	1	0	0	0	0	1	0	0	0	13474	188	7	5		5	RGS20	8	53879274	Missense_Mutation	SNP	A	C3N-01410_TP	20417873	53879274	91259362	120	24514											
ZFHX4	0	.	GRCh38	chr8	76851514	76851514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagggcccaattttacgatGgaaaaattccttgatccatc	14	11	7	9	1	0	1	0	1	0	0	3	3	2	2	3	2	1	0	3	2	5	4	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.4593G>T	p.Met1531Ile	p.M1531I	ENST00000521891	10/11	455	419	36	216	215	1	strelka-varscan-mutect	ZFHX4,missense_variant,p.Met1531Ile,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Met1505Ile,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;	T	ENST00000521891	Transcript	missense_variant	5041/14019	4593/10851	1531/3616	M/I	atG/atT		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0)		10/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	75	76851514	76851514	G	T	1	0	0	0	0	1	0	0	0	18213	1348	47	2		2	ZFHX4	8	76851514	Missense_Mutation	SNP	G	C3N-01410_TP	22972240	76851514	68287122	121	24515											
CNBD1	0	.	GRCh38	chr8	86866549	86866549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcacatgacagctattaaCaatgtgcctcctcctccact	10	12	4	15	0	1	1	1	1	1	0	5	1	4	1	4	0	3	1	4	0	3	2	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.54C>G	p.Asn18Lys	p.N18K	ENST00000518476	1/11	235	206	29	243	243	0	strelka-varscan-mutect	CNBD1,missense_variant,p.Asn18Lys,ENST00000518476,NM_173538.2;CNBD1,non_coding_transcript_exon_variant,,ENST00000517748,;	G	ENST00000518476	Transcript	missense_variant	105/1594	54/1311	18/436	N/K	aaC/aaG		1		1	CNBD1	HGNC	HGNC:26663	protein_coding	YES	CCDS55259.1	ENSP00000430073	Q8NA66		UPI000006EA68	NM_173538.2	tolerated(0.15)		1/11		hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF142																	MODERATE	1	SNV	1			1										PASS		rs1369119298	.												G	3	3	75	86866549	86866549	C	G	1	0	0	0	0	1	0	0	0	3369	477	17	4		4	CNBD1	8	86866549	Missense_Mutation	SNP	C	C3N-01410_TP	10015035	86866549	58272087	122	24516											
SLC30A8	0	.	GRCh38	chr8	117157748	117157748	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgactggcgtgctagTgtacctggcatgtgagcgcc	5	10	17	9	2	0	2	0	2	0	0	0	2	0	2	2	4	3	3	2	4	2	2	rs578012694		C3N-01410_TP	C3N-01410_NB	T	T																c.476T>A	p.Val159Glu	p.V159E	ENST00000456015	4/8	192	140	52	211	211	0	strelka-varscan-mutect	SLC30A8,missense_variant,p.Val110Glu,ENST00000427715,NM_001172815.1,NM_001172813.1;SLC30A8,missense_variant,p.Val110Glu,ENST00000519688,NM_001172814.1;SLC30A8,missense_variant,p.Val159Glu,ENST00000456015,NM_173851.2;SLC30A8,missense_variant,p.Val110Glu,ENST00000521243,NM_001172811.1;SLC30A8,downstream_gene_variant,,ENST00000518521,;SLC30A8,downstream_gene_variant,,ENST00000524274,;	A	ENST00000456015	Transcript	missense_variant	476/2520	476/1110	159/369	V/E	gTg/gAg	rs578012694	1		1	SLC30A8	HGNC	HGNC:20303	protein_coding	YES	CCDS6322.1	ENSP00000415011	Q8IWU4		UPI00001B00D6	NM_173851.2	deleterious(0)		4/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR11562:SF37,hmmpanther:PTHR11562,Gene3D:3h90A01,Pfam_domain:PF01545,TIGRFAM_domain:TIGR01297,Superfamily_domains:0054606																	MODERATE	1	SNV	1			1										PASS		rs578012694	.												A	3	1	75	117157748	117157748	T	A	1	0	0	0	0	1	0	0	0	14831	1696	59	4		4	SLC30A8	8	117157748	Missense_Mutation	SNP	T	C3N-01410_TP	30291199	117157748	27980888	123	24517											
EPPK1	0	.	GRCh38	chr8	143868402	143868402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagcttccggttctccaCggggtcgatgatgaagccgg	6	9	15	11	4	2	2	1	2	1	0	5	3	3	2	3	5	2	2	3	5	1	2	rs201170631		C3N-01410_TP	C3N-01410_NB	C	C																c.4852G>T	p.Val1618Leu	p.V1618L	ENST00000615648	2/2	197	144	53	130	130	0	strelka-varscan-mutect	EPPK1,missense_variant,p.Val1618Leu,ENST00000615648,NM_031308.3;EPPK1,missense_variant,p.Val1593Leu,ENST00000568225,;	A	ENST00000615648	Transcript	missense_variant	4924/16002	4852/15267	1618/5088	V/L	Gtg/Ttg	rs201170631	1		-1	EPPK1	HGNC	HGNC:15577	protein_coding	YES	CCDS75800.1	ENSP00000484472		A0A087X1U6	UPI0002065B93	NM_031308.3	tolerated(0.12)		2/2		Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF252,SMART_domains:SM00250,Superfamily_domains:SSF75399																	MODERATE	1	SNV	5			1										PASS		rs201170631	.												A	3	1	75	143868402	143868402	C	A	1	0	0	0	0	1	0	0	0	5038	536	19	1		1	EPPK1	8	143868402	Missense_Mutation	SNP	C	C3N-01410_TP	26710654	143868402	1270234	124	24518											
EPPK1	0	.	GRCh38	chr8	143868510	143868510	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggatgctcatcctctcctGggtgccctggataaggaccc	6	10	12	13	0	2	0	1	0	1	0	4	3	3	3	4	4	2	1	4	4	1	1	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.4744C>T	p.Gln1582Ter	p.Q1582*	ENST00000615648	2/2	171	128	43	89	89	0	strelka-varscan-mutect	EPPK1,stop_gained,p.Gln1582Ter,ENST00000615648,NM_031308.3;EPPK1,stop_gained,p.Gln1557Ter,ENST00000568225,;	A	ENST00000615648	Transcript	stop_gained	4816/16002	4744/15267	1582/5088	Q/*	Cag/Tag		1		-1	EPPK1	HGNC	HGNC:15577	protein_coding	YES	CCDS75800.1	ENSP00000484472		A0A087X1U6	UPI0002065B93	NM_031308.3			2/2		Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF252,SMART_domains:SM00250,Superfamily_domains:SSF75399																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	75	143868510	143868510	G	A	1	0	0	0	0	0	1	0	0	5038	1357	47	3		3	EPPK1	8	143868510	Nonsense_Mutation	SNP	G	C3N-01410_TP	108	143868510	1270126	125	24519											
PAX5	0	.	GRCh38	chr9	36882006	36882006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgacagtgcaaactcaccaGgcaccatccctgtcagcgtc	10	6	8	17	2	2	0	2	0	0	0	4	1	3	0	4	1	3	2	4	1	1	0	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1010C>A	p.Pro337His	p.P337H	ENST00000358127	8/10	213	159	54	180	180	0	strelka-varscan-mutect	PAX5,missense_variant,p.Pro337His,ENST00000358127,NM_016734.2;PAX5,missense_variant,p.Pro337His,ENST00000377853,NM_001280548.1;PAX5,missense_variant,p.Pro294His,ENST00000414447,NM_001280554.1;PAX5,missense_variant,p.Pro229His,ENST00000522003,NM_001280556.1;PAX5,missense_variant,p.Pro294His,ENST00000520281,NM_001280553.1;PAX5,missense_variant,p.Pro164His,ENST00000524340,;PAX5,intron_variant,,ENST00000377852,NM_001280547.1;PAX5,intron_variant,,ENST00000523241,NM_001280549.1;PAX5,intron_variant,,ENST00000520154,NM_001280550.1;PAX5,intron_variant,,ENST00000377847,NM_001280552.1;PAX5,intron_variant,,ENST00000446742,NM_001280555.1;PAX5,intron_variant,,ENST00000523145,NM_001280551.1;PAX5,intron_variant,,ENST00000522932,;PAX5,splice_region_variant,,ENST00000377840,;PAX5,splice_region_variant,,ENST00000523493,;	T	ENST00000358127	Transcript	missense_variant,splice_region_variant	1164/8615	1010/1176	337/391	P/H	cCt/cAt		1		-1	PAX5	HGNC	HGNC:8619	protein_coding	YES	CCDS6607.1	ENSP00000350844	Q02548		UPI000013136C	NM_016734.2	deleterious(0.01)		8/10		Pfam_domain:PF12403																	MODERATE	1	SNV	1			1										PASS		rs1443254567	.												T	3	4	75	36882006	36882006	G	T	1	0	0	0	0	1	0	0	0	11567	1014	35	2		2	PAX5	9	36882006	Missense_Mutation	SNP	G	C3N-01410_TP		36882006	101512711	126	24520											
ABCA1	0	.	GRCh38	chr9	104791970	104791970	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcccacgcaaatcctgtcaAcagcaggcttccgcttcctt	8	10	7	16	2	1	0	1	0	0	0	4	0	4	0	4	1	3	4	4	1	2	3	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.5786T>C	p.Val1929Ala	p.V1929A	ENST00000374736	43/50	362	298	64	433	433	0	strelka-varscan-mutect	ABCA1,missense_variant,p.Val1929Ala,ENST00000374736,NM_005502.3;	G	ENST00000374736	Transcript	missense_variant	6181/10494	5786/6786	1929/2261	V/A	gTt/gCt		1		-1	ABCA1	HGNC	HGNC:29	protein_coding	YES	CCDS6762.1	ENSP00000363868	O95477		UPI000013E441	NM_005502.3	deleterious(0)		43/50		PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF34,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	75	104791970	104791970	A	G	1	0	0	0	0	1	0	0	0	32	43	2	5		5	ABCA1	9	104791970	Missense_Mutation	SNP	A	C3N-01410_TP	67909964	104791970	33602747	127	24521											
PAPPA	0	.	GRCh38	chr9	116396557	116396557	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaggtgactgtgcttgtCgggacccccaggcccaagaa	10	7	12	12	1	0	2	0	1	0	1	1	3	0	3	3	3	2	1	3	3	4	2	rs750316557		C3N-01410_TP	C3N-01410_NB	C	C																c.4825C>A	p.=	p.R1609R	ENST00000328252	22/22	126	87	39	139	138	1	strelka-varscan-mutect	PAPPA,synonymous_variant,p.=,ENST00000328252,NM_002581.3;PAPPA-AS1,downstream_gene_variant,,ENST00000445861,;PAPPA,non_coding_transcript_exon_variant,,ENST00000483254,;	A	ENST00000328252	Transcript	synonymous_variant	5194/10959	4825/4884	1609/1627	R	Cgg/Agg	rs750316557	1		1	PAPPA	HGNC	HGNC:8602	protein_coding	YES	CCDS6813.1	ENSP00000330658	Q13219		UPI00001E0589	NM_002581.3			22/22		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347																	LOW	1	SNV	1			1										PASS		rs750316557	.												A	2	1	75	116396557	116396557	C	A	1	0	0	0	0	0	0	0	1	11512	875	31	1		1	PAPPA	9	116396557	Silent	SNP	C	C3N-01410_TP	11604587	116396557	21998160	128	24522											
PRRC2B	0	.	GRCh38	chr9	131447792	131447792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggacgccgatgccgatGatggctgggcaggtgggcag	7	7	18	9	3	1	1	0	1	1	0	1	4	1	2	2	5	1	3	2	5	0	0	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1108G>T	p.Asp370Tyr	p.D370Y	ENST00000357304	8/31	46	35	11	58	58	0	strelka-mutect	PRRC2B,missense_variant,p.Asp370Tyr,ENST00000357304,NM_013318.3;PRRC2B,missense_variant,p.Asp370Tyr,ENST00000405995,;PRRC2B,non_coding_transcript_exon_variant,,ENST00000489593,;	T	ENST00000357304	Transcript	missense_variant	1163/11042	1108/6690	370/2229	D/Y	Gat/Tat		1		1	PRRC2B	HGNC	HGNC:28121	protein_coding	YES	CCDS48044.1	ENSP00000349856	Q5JSZ5		UPI00002374A3	NM_013318.3	deleterious(0)		8/31		Low_complexity_(Seg):seg,hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	75	131447792	131447792	G	T	1	0	0	0	0	1	0	0	0	12749	1290	45	2		2	PRRC2B	9	131447792	Missense_Mutation	SNP	G	C3N-01410_TP	15051235	131447792	6946925	129	24523											
PAEP	0	.	GRCh38	chr9	135561854	135561854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggtctgtggtgtcccggCcatggacatcccccagacca	6	8	11	16	1	1	1	0	0	1	1	3	2	3	2	6	4	0	0	6	4	0	0	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.53C>A	p.Ala18Asp	p.A18D	ENST00000479141	1/7	89	60	29	102	102	0	strelka-varscan-mutect	PAEP,missense_variant,p.Ala18Asp,ENST00000479141,NM_002571.2;PAEP,missense_variant,p.Ala18Asp,ENST00000371766,;PAEP,missense_variant,p.Ala4Asp,ENST00000433563,;PAEP,missense_variant,p.Ala18Asp,ENST00000277508,NM_001018049.1;PAEP,missense_variant,p.Ala18Asp,ENST00000611414,;PAEP,upstream_gene_variant,,ENST00000454923,;PAEP,upstream_gene_variant,,ENST00000457014,;PAEP,upstream_gene_variant,,ENST00000418284,;PAEP,missense_variant,p.Ala18Asp,ENST00000371768,;	A	ENST00000479141	Transcript	missense_variant	97/990	53/543	18/180	A/D	gCc/gAc		1		1	PAEP	HGNC	HGNC:8573	protein_coding	YES	CCDS35173.1	ENSP00000417898	P09466	A0A024R8D8	UPI0000038E3A	NM_002571.2	tolerated(0.1)		1/7		hmmpanther:PTHR11430,hmmpanther:PTHR11430:SF72,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	135561854	135561854	C	A	1	0	0	0	0	1	0	0	0	11460	739	26	2		2	PAEP	9	135561854	Missense_Mutation	SNP	C	C3N-01410_TP	4114062	135561854	2832863	130	24524											
DIP2C	0	.	GRCh38	chr10	440904	440904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtccatcgaggtctgcaCgaccagggacctgcgtttgg	6	8	15	12	4	1	0	0	0	1	0	3	3	2	1	3	4	2	2	3	4	0	1	rs748869768		C3N-01410_TP	C3N-01410_NB	C	C																c.361G>A	p.Val121Met	p.V121M	ENST00000280886	4/37	104	72	32	153	153	0	strelka-varscan-mutect	DIP2C,missense_variant,p.Val121Met,ENST00000280886,NM_014974.2;DIP2C,missense_variant,p.Val102Met,ENST00000381496,;DIP2C,missense_variant,p.Val177Met,ENST00000634311,;RP11-490E15.2,intron_variant,,ENST00000425723,;	T	ENST00000280886	Transcript	missense_variant	451/7888	361/4671	121/1556	V/M	Gtg/Atg	rs748869768,COSM5687240,COSM5687241,COSM5687242	1		-1	DIP2C	HGNC	HGNC:29150	protein_coding	YES	CCDS7054.1	ENSP00000280886	Q9Y2E4		UPI00001833B9	NM_014974.2	deleterious(0.03)		4/37		hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs748869768	.												T	3	4	75	440904	440904	C	T	1	0	0	0	0	1	0	0	0	4334	536	19	1		1	DIP2C	10	440904	Missense_Mutation	SNP	C	C3N-01410_TP		440904	133356518	131	24525											
FAM107B	0	.	GRCh38	chr10	14667652	14667652	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgatgtcattttctgctCcagctcgaggcatttaggtt	7	15	9	10	1	2	1	1	1	1	0	4	2	3	1	2	2	2	4	2	2	1	5			C3N-01410_TP	C3N-01410_NB	C	C																c.451G>T	p.Glu151Ter	p.E151*	ENST00000181796	2/5	151	119	32	195	194	1	strelka-varscan-mutect	FAM107B,stop_gained,p.Glu151Ter,ENST00000181796,NM_031453.3;RNA5SP302,upstream_gene_variant,,ENST00000364896,;FAM107B,stop_gained,p.Glu151Ter,ENST00000487335,;	A	ENST00000181796	Transcript	stop_gained	685/3785	451/921	151/306	E/*	Gag/Tag	COSM32625	1		-1	FAM107B	HGNC	HGNC:23726	protein_coding	YES	CCDS7102.1	ENSP00000181796	Q9H098		UPI00001C0E1E	NM_031453.3			2/5		hmmpanther:PTHR16768:SF1,hmmpanther:PTHR16768											1						HIGH	1	SNV	2		1	1										PASS		.	.												A	4	1	75	14667652	14667652	C	A	1	0	0	0	0	0	1	0	0	5258	864	30	2		2	FAM107B	10	14667652	Nonsense_Mutation	SNP	C	C3N-01410_TP	14226748	14667652	119129770	132	24526											
DCLRE1C	0	.	GRCh38	chr10	14936585	14936585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaagagagtcacaacaatCtcttccttctaaaaagaaaa	18	9	6	8	0	3	2	1	0	2	2	5	3	4	2	1	1	1	1	1	1	8	4	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.315G>T	p.Glu105Asp	p.E105D	ENST00000378278	5/14	179	136	43	273	273	0	strelka-varscan-mutect	DCLRE1C,missense_variant,p.Glu105Asp,ENST00000378289,;DCLRE1C,missense_variant,p.Glu105Asp,ENST00000378278,NM_001033855.2;DCLRE1C,5_prime_UTR_variant,,ENST00000378255,NM_001289079.1;DCLRE1C,5_prime_UTR_variant,,ENST00000396817,NM_001033858.2;DCLRE1C,5_prime_UTR_variant,,ENST00000378254,NM_001289077.1;DCLRE1C,5_prime_UTR_variant,,ENST00000378258,NM_001033857.2;DCLRE1C,5_prime_UTR_variant,,ENST00000418843,;DCLRE1C,5_prime_UTR_variant,,ENST00000378241,;DCLRE1C,intron_variant,,ENST00000378246,NM_022487.3;DCLRE1C,intron_variant,,ENST00000378249,NM_001289078.1;DCLRE1C,intron_variant,,ENST00000357717,NM_001289076.1;DCLRE1C,intron_variant,,ENST00000456122,;	A	ENST00000378278	Transcript	missense_variant	353/2354	315/2079	105/692	E/D	gaG/gaT		1		-1	DCLRE1C	HGNC	HGNC:17642	protein_coding	YES	CCDS31149.1	ENSP00000367527	Q96SD1		UPI000013EEDC	NM_001033855.2	tolerated(0.81)		5/14		hmmpanther:PTHR23240,hmmpanther:PTHR23240:SF8,Pfam_domain:PF12706,Gene3D:3.60.15.10,Superfamily_domains:SSF56281																	MODERATE	1	SNV	1			1										PASS		rs1477434785	.												A	3	1	75	14936585	14936585	C	A	1	0	0	0	0	1	0	0	0	4098	912	32	2		2	DCLRE1C	10	14936585	Missense_Mutation	SNP	C	C3N-01410_TP	268933	14936585	118860837	133	24527											
MLLT10	0	.	GRCh38	chr10	21726268	21726268	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atactctatctggatcttctCtcagtcaggcaccatctcat	9	14	5	13	0	7	0	3	0	5	0	9	1	7	1	1	2	1	1	1	2	2	3	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1903C>G	p.Leu635Val	p.L635V	ENST00000307729	15/23	150	122	28	212	212	0	strelka-varscan-mutect	MLLT10,missense_variant,p.Leu651Val,ENST00000377072,NM_004641.3;MLLT10,missense_variant,p.Leu635Val,ENST00000307729,;MLLT10,missense_variant,p.Leu635Val,ENST00000631589,;MLLT10,missense_variant,p.Leu635Val,ENST00000377059,NM_001195626.1;MLLT10,missense_variant,p.Leu294Val,ENST00000438473,;	G	ENST00000307729	Transcript	missense_variant	2081/5032	1903/3207	635/1068	L/V	Ctc/Gtc		1		1	MLLT10	HGNC	HGNC:16063	protein_coding	YES	CCDS55708.1	ENSP00000307411	P55197		UPI00001F8FF7		deleterious(0.01)		15/23		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF93																	MODERATE	1	SNV	1			1										PASS		rs1220079829	.												G	3	3	75	21726268	21726268	C	G	1	0	0	0	0	1	0	0	0	9589	913	32	4		4	MLLT10	10	21726268	Missense_Mutation	SNP	C	C3N-01410_TP	6789683	21726268	112071154	134	24528											
PIP4K2A	0	.	GRCh38	chr10	22607954	22607954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttgatcatcaattccaaaCctctcccgcaggttacggaa	11	11	6	13	2	4	1	2	1	2	0	6	2	5	2	3	2	2	2	3	2	4	3	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.312G>T	p.Arg104Ser	p.R104S	ENST00000376573	3/10	113	104	9	169	169	0	strelka-varscan-mutect	PIP4K2A,missense_variant,p.Arg104Ser,ENST00000376573,NM_005028.4;PIP4K2A,missense_variant,p.Arg45Ser,ENST00000545335,;PIP4K2A,non_coding_transcript_exon_variant,,ENST00000422321,;PIP4K2A,non_coding_transcript_exon_variant,,ENST00000432610,;	A	ENST00000376573	Transcript	missense_variant	541/3802	312/1221	104/406	R/S	agG/agT		1		-1	PIP4K2A	HGNC	HGNC:8997	protein_coding	YES	CCDS7141.1	ENSP00000365757	P48426		UPI0000001052	NM_005028.4	deleterious(0)		3/10		Gene3D:2gk9B01,PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF21,SMART_domains:SM00330,Superfamily_domains:SSF56104																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	22607954	22607954	C	A	1	0	0	0	0	1	0	0	0	12031	506	18	2		2	PIP4K2A	10	22607954	Missense_Mutation	SNP	C	C3N-01410_TP	881686	22607954	111189468	135	24529											
LYZL2	0	.	GRCh38	chr10	30612853	30612853	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttgtgtctctttaacaaTtttcttggcacagataatcg	9	17	6	9	1	2	1	0	0	2	1	5	1	3	1	1	1	1	1	1	1	3	7	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.484A>G	p.Ile162Val	p.I162V	ENST00000375318	4/5	171	142	29	132	132	0	strelka-varscan-mutect	LYZL2,missense_variant,p.Ile162Val,ENST00000375318,NM_183058.2;	C	ENST00000375318	Transcript	missense_variant	541/818	484/585	162/194	I/V	Att/Gtt		1		-1	LYZL2	HGNC	HGNC:29613	protein_coding	YES	CCDS7167.2	ENSP00000364467	Q7Z4W2	A0A080YUZ9	UPI0000160E06	NM_183058.2	tolerated(0.52)		4/5		PROSITE_profiles:PS51348,hmmpanther:PTHR11407:SF35,hmmpanther:PTHR11407,Gene3D:1.10.530.10,Pfam_domain:PF00062,SMART_domains:SM00263,Superfamily_domains:SSF53955,Prints_domain:PR00135																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	75	30612853	30612853	T	C	1	0	0	0	0	1	0	0	0	9045	1493	52	5		5	LYZL2	10	30612853	Missense_Mutation	SNP	T	C3N-01410_TP	8004899	30612853	103184569	136	24530											
ANKRD30A	0	.	GRCh38	chr10	37141923	37141923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgacaaaattcaatgtttGgagaaagcgacatctggaaa	16	10	9	6	1	3	2	1	1	2	1	3	5	3	3	0	2	1	1	0	2	5	2	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.858G>T	p.Leu286Phe	p.L286F	ENST00000361713	7/36	262	222	40	296	296	0	strelka-varscan-mutect	ANKRD30A,missense_variant,p.Leu286Phe,ENST00000374660,;ANKRD30A,missense_variant,p.Leu342Phe,ENST00000611781,;ANKRD30A,missense_variant,p.Leu286Phe,ENST00000602533,;ANKRD30A,missense_variant,p.Leu286Phe,ENST00000361713,NM_052997.2;	T	ENST00000361713	Transcript	missense_variant	957/4405	858/4026	286/1341	L/F	ttG/ttT		1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2	tolerated(0.13)		7/36		hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	75	37141923	37141923	G	T	1	0	0	0	0	1	0	0	0	761	1339	47	2		2	ANKRD30A	10	37141923	Missense_Mutation	SNP	G	C3N-01410_TP	6529070	37141923	96655499	137	24531											
PCDH15	0	.	GRCh38	chr10	54020330	54020330	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaaagcgatagttctccTgtaaatggatgtagtgcaaa	14	12	9	6	1	1	0	0	0	1	0	2	2	1	1	1	1	2	4	1	1	7	5	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.2628A>T	p.=	p.T876T	ENST00000373957	21/35	427	353	74	428	427	1	strelka-varscan-mutect	PCDH15,synonymous_variant,p.=,ENST00000614895,;PCDH15,synonymous_variant,p.=,ENST00000373965,NM_001142772.1;PCDH15,synonymous_variant,p.=,ENST00000414778,;PCDH15,synonymous_variant,p.=,ENST00000617051,;PCDH15,synonymous_variant,p.=,ENST00000373957,NM_001142763.1;PCDH15,synonymous_variant,p.=,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,synonymous_variant,p.=,ENST00000395430,NM_001142766.1;PCDH15,synonymous_variant,p.=,ENST00000395433,NM_001142773.1;PCDH15,synonymous_variant,p.=,ENST00000395432,NM_001142767.1;PCDH15,synonymous_variant,p.=,ENST00000320301,NM_033056.3;PCDH15,synonymous_variant,p.=,ENST00000622048,;PCDH15,synonymous_variant,p.=,ENST00000437009,NM_001142765.1;PCDH15,synonymous_variant,p.=,ENST00000617271,NM_001142770.1;PCDH15,synonymous_variant,p.=,ENST00000613657,NM_001142769.1;PCDH15,synonymous_variant,p.=,ENST00000395445,;PCDH15,synonymous_variant,p.=,ENST00000616114,;PCDH15,synonymous_variant,p.=,ENST00000395438,;PCDH15,synonymous_variant,p.=,ENST00000612394,;PCDH15,synonymous_variant,p.=,ENST00000621708,NM_001142771.1;PCDH15,synonymous_variant,p.=,ENST00000409834,;PCDH15,synonymous_variant,p.=,ENST00000373955,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	A	ENST00000373957	Transcript	synonymous_variant	3023/7032	2628/5889	876/1962	T	acA/acT		1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1			21/35		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	75	54020330	54020330	T	A	1	0	0	0	0	0	0	0	1	11598	1567	55	4		4	PCDH15	10	54020330	Silent	SNP	T	C3N-01410_TP	16878407	54020330	79777092	138	24532											
PCDH15	0	.	GRCh38	chr10	54236920	54236920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggcgtaacaataatgggGttcagttcttcctgaaaaaa	13	11	11	6	1	2	1	1	1	1	0	3	1	3	1	1	4	1	3	1	4	6	5			C3N-01410_TP	C3N-01410_NB	G	G																c.903C>A	p.Asn301Lys	p.N301K	ENST00000373957	10/35	372	282	90	388	385	3	strelka-varscan-mutect	PCDH15,missense_variant,p.Asn301Lys,ENST00000614895,;PCDH15,missense_variant,p.Asn296Lys,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Asn296Lys,ENST00000414778,;PCDH15,missense_variant,p.Asn301Lys,ENST00000617051,;PCDH15,missense_variant,p.Asn301Lys,ENST00000373957,NM_001142763.1;PCDH15,missense_variant,p.Asn296Lys,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,missense_variant,p.Asn296Lys,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Asn274Lys,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Asn259Lys,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Asn296Lys,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Asn296Lys,ENST00000622048,;PCDH15,missense_variant,p.Asn296Lys,ENST00000437009,NM_001142765.1;PCDH15,missense_variant,p.Asn296Lys,ENST00000617271,NM_001142770.1;PCDH15,missense_variant,p.Asn301Lys,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Asn296Lys,ENST00000395445,;PCDH15,missense_variant,p.Asn296Lys,ENST00000616114,;PCDH15,missense_variant,p.Asn296Lys,ENST00000395438,;PCDH15,missense_variant,p.Asn301Lys,ENST00000612394,;PCDH15,missense_variant,p.Asn301Lys,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Asn296Lys,ENST00000373955,;PCDH15,missense_variant,p.Asn296Lys,ENST00000395446,;PCDH15,missense_variant,p.Asn296Lys,ENST00000395440,;PCDH15,missense_variant,p.Asn296Lys,ENST00000395442,;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,missense_variant,p.Asn296Lys,ENST00000448885,;PCDH15,missense_variant,p.Asn296Lys,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	T	ENST00000373957	Transcript	missense_variant	1298/7032	903/5889	301/1962	N/K	aaC/aaA	COSM1180220,COSM1180221,COSM1180222,COSM1180223	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1	deleterious(0.04)		10/35		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF11,hmmpanther:PTHR24028,Superfamily_domains:SSF49313											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		rs1280363858	.												T	3	4	75	54236920	54236920	G	T	1	0	0	0	0	1	0	0	0	11598	1252	44	2		2	PCDH15	10	54236920	Missense_Mutation	SNP	G	C3N-01410_TP	216590	54236920	79560502	139	24533											
LRRTM3	0	.	GRCh38	chr10	66928183	66928183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttccataaaatcatcgcgGgcagcgtggcgcttttcctg	7	12	10	12	4	1	0	1	0	0	0	4	0	3	0	2	2	1	2	2	2	2	4	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1267G>T	p.Gly423Cys	p.G423C	ENST00000361320	2/3	279	185	94	209	206	3	strelka-varscan-mutect	LRRTM3,missense_variant,p.Gly423Cys,ENST00000361320,NM_178011.4;CTNNA3,intron_variant,,ENST00000433211,NM_001127384.2,NM_013266.3;CTNNA3,intron_variant,,ENST00000494580,;	T	ENST00000361320	Transcript	missense_variant	1845/4358	1267/1746	423/581	G/C	Ggc/Tgc		1		1	LRRTM3	HGNC	HGNC:19410	protein_coding	YES	CCDS7270.1	ENSP00000355187	Q86VH5		UPI0000088C0F	NM_178011.4	deleterious(0)		2/3		Transmembrane_helices:TMhelix,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF54																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	66928183	66928183	G	T	1	0	0	0	0	1	0	0	0	8947	1232	43	2		2	LRRTM3	10	66928183	Missense_Mutation	SNP	G	C3N-01410_TP	12691263	66928183	66869239	140	24534											
OIT3	0	.	GRCh38	chr10	72913354	72913354	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgaagtgaacatccccagGgagctggttggtggcctgga	9	9	15	8	0	0	2	0	2	0	0	1	4	1	4	3	5	2	2	3	5	2	2	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.837G>C	p.Arg279Ser	p.R279S	ENST00000334011	6/9	76	64	12	43	43	0	strelka-varscan-mutect	OIT3,missense_variant,p.Arg279Ser,ENST00000334011,NM_152635.2;OIT3,missense_variant,p.Arg279Ser,ENST00000622652,;NPM1P24,downstream_gene_variant,,ENST00000428039,;	C	ENST00000334011	Transcript	missense_variant	1055/2365	837/1638	279/545	R/S	agG/agC		1		1	OIT3	HGNC	HGNC:29953	protein_coding	YES	CCDS7318.1	ENSP00000333900	Q8WWZ8		UPI00000389F9	NM_152635.2	deleterious(0.05)		6/9		PROSITE_profiles:PS51034,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF326,Pfam_domain:PF00100,SMART_domains:SM00241																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	75	72913354	72913354	G	C	1	0	0	0	0	1	0	0	0	10924	1223	43	4		4	OIT3	10	72913354	Missense_Mutation	SNP	G	C3N-01410_TP	5985171	72913354	60884068	141	24535											
C10orf99	0	.	GRCh38	chr10	84184726	84184726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcaagcttgagccagagcCccgcctttgggtggtgcctg	6	9	14	12	1	0	2	0	1	0	1	0	2	0	2	5	2	5	2	5	2	1	2	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.206C>A	p.Pro69His	p.P69H	ENST00000372126	3/3	258	212	46	211	211	0	strelka-varscan-mutect	C10orf99,missense_variant,p.Pro69His,ENST00000372126,NM_207373.2;C10orf99,intron_variant,,ENST00000472542,;	A	ENST00000372126	Transcript	missense_variant	320/888	206/246	69/81	P/H	cCc/cAc		1		1	C10orf99	HGNC	HGNC:31428	protein_coding	YES	CCDS7371.1	ENSP00000361199	Q6UWK7		UPI0000046D02	NM_207373.2	tolerated(0.6)		3/3		Pfam_domain:PF15854																	MODERATE	1	SNV	1			1										PASS		rs1384994724	.												A	3	1	75	84184726	84184726	C	A	1	0	0	0	0	1	0	0	0	1775	623	22	2		2	C10orf99	10	84184726	Missense_Mutation	SNP	C	C3N-01410_TP	11271372	84184726	49612696	142	24536											
CDHR1	0	.	GRCh38	chr10	84214269	84214269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgggtgctccgcaagcGgcccagccctgcgccccgca	4	3	15	19	6	0	0	0	0	0	0	1	0	1	0	5	3	4	3	5	3	1	0	rs767546090		C3N-01410_TP	C3N-01410_NB	G	G																c.2228G>T	p.Arg743Leu	p.R743L	ENST00000623527	17/17	608	409	199	587	587	0	strelka-varscan-mutect	CDHR1,missense_variant,p.Arg743Leu,ENST00000623527,NM_033100.3;CDHR1,missense_variant,p.Arg482Leu,ENST00000372117,;CDHR1,intron_variant,,ENST00000332904,NM_001171971.2;CDHR1,intron_variant,,ENST00000623399,;CDHR1,non_coding_transcript_exon_variant,,ENST00000459673,;CDHR1,downstream_gene_variant,,ENST00000622973,;	T	ENST00000623527	Transcript	missense_variant	2354/6781	2228/2580	743/859	R/L	cGg/cTg	rs767546090	1		1	CDHR1	HGNC	HGNC:14550	protein_coding	YES	CCDS7372.1	ENSP00000485478	Q96JP9	F1T0L2	UPI0000161C2F	NM_033100.3	deleterious_low_confidence(0)		17/17		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF340																	MODERATE	1	SNV	1			1										PASS		rs767546090	.												T	3	4	75	84214269	84214269	G	T	1	0	0	0	0	1	0	0	0	2821	1116	39	1		1	CDHR1	10	84214269	Missense_Mutation	SNP	G	C3N-01410_TP	29543	84214269	49583153	143	24537											
HTR7	0	.	GRCh38	chr10	90749444	90749444	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcctggctgatcaagcaCaccttatcatcatttacatt	12	13	5	11	0	3	1	3	1	0	0	4	1	4	1	2	1	2	2	2	1	4	4	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.690G>T	p.=	p.V230V	ENST00000336152	2/4	208	149	59	186	186	0	strelka-varscan-mutect	HTR7,synonymous_variant,p.=,ENST00000336152,NM_019859.3;HTR7,synonymous_variant,p.=,ENST00000371719,NM_019860.3;HTR7,synonymous_variant,p.=,ENST00000277874,NM_000872.4;	A	ENST00000336152	Transcript	synonymous_variant	717/3126	690/1440	230/479	V	gtG/gtT		1		-1	HTR7	HGNC	HGNC:5302	protein_coding	YES	CCDS7408.1	ENSP00000337949	P34969		UPI0000049B68	NM_019859.3			2/4		PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF116,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	75	90749444	90749444	C	A	1	0	0	0	0	0	0	0	1	7348	465	17	2		2	HTR7	10	90749444	Silent	SNP	C	C3N-01410_TP	6535175	90749444	43047978	144	24538											
CPN1	0	.	GRCh38	chr10	100081568	100081568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtggcgaaaggtcaccgGggcaaccaacttgaagagaa	13	5	15	8	2	1	2	1	1	0	1	1	4	1	2	2	5	2	1	2	5	5	1	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.58C>A	p.Pro20Thr	p.P20T	ENST00000370418	1/9	527	461	66	483	481	2	strelka-varscan-mutect	CPN1,missense_variant,p.Pro20Thr,ENST00000370418,NM_001308.2;	T	ENST00000370418	Transcript	missense_variant	310/1863	58/1377	20/458	P/T	Ccg/Acg		1		-1	CPN1	HGNC	HGNC:2312	protein_coding	YES	CCDS7486.1	ENSP00000359446	P15169		UPI00000012AC	NM_001308.2	tolerated(0.1)		1/9		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11532:SF7,hmmpanther:PTHR11532,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	100081568	100081568	G	T	1	0	0	0	0	1	0	0	0	3604	1232	43	2		2	CPN1	10	100081568	Missense_Mutation	SNP	G	C3N-01410_TP	9332124	100081568	33715854	145	24539											
PKD2L1	0	.	GRCh38	chr10	100293362	100293362	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgaatatgtgtcattgatGatggccaggaacatgttctg	10	14	11	6	0	3	3	1	3	2	0	3	4	3	4	1	2	1	1	1	2	3	3	rs777226908		C3N-01410_TP	C3N-01410_NB	G	G																c.1677C>T	p.=	p.I559I	ENST00000318222	10/16	159	95	64	187	187	0	strelka-varscan-mutect	PKD2L1,synonymous_variant,p.=,ENST00000318222,NM_001253837.1,NM_016112.2;PKD2L1,intron_variant,,ENST00000465680,;PKD2L1,3_prime_UTR_variant,,ENST00000528248,;	A	ENST00000318222	Transcript	synonymous_variant	2060/3043	1677/2418	559/805	I	atC/atT	rs777226908	1		-1	PKD2L1	HGNC	HGNC:9011	protein_coding	YES	CCDS7492.1	ENSP00000325296	Q9P0L9		UPI0000130FED	NM_001253837.1,NM_016112.2			10/16		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF105,Pfam_domain:PF08016,Superfamily_domains:SSF81324,Prints_domain:PR01433																	LOW	1	SNV	1			1										PASS		rs777226908	.												A	2	1	75	100293362	100293362	G	A	1	0	0	0	0	0	0	0	1	12063	1280	45	3		3	PKD2L1	10	100293362	Silent	SNP	G	C3N-01410_TP	211794	100293362	33504060	146	24540											
RBM20	0	.	GRCh38	chr10	110821795	110821795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagagggcccggcagcCaagcccatttgtggatgatt	10	7	15	9	1	0	3	0	1	0	2	0	5	0	4	3	4	2	1	3	4	1	2	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.3176C>A	p.Pro1059Gln	p.P1059Q	ENST00000369519	11/14	324	219	105	145	145	0	strelka-varscan-mutect	RBM20,missense_variant,p.Pro1059Gln,ENST00000369519,NM_001134363.2;RBM20,upstream_gene_variant,,ENST00000471172,;	A	ENST00000369519	Transcript	missense_variant	3234/7233	3176/3684	1059/1227	P/Q	cCa/cAa		1		1	RBM20	HGNC	HGNC:27424	protein_coding	YES	CCDS44477.1	ENSP00000358532	Q5T481		UPI00044338F1	NM_001134363.2	tolerated(0.1)		11/14																			MODERATE	1	SNV	1			1										PASS		rs1478811231	.												A	3	1	75	110821795	110821795	C	A	1	0	0	0	0	1	0	0	0	13287	594	21	2		2	RBM20	10	110821795	Missense_Mutation	SNP	C	C3N-01410_TP	10528433	110821795	22975627	147	24541											
AFAP1L2	0	.	GRCh38	chr10	114310361	114310361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaggcttactttctggCagttaaagcgctgggcatcc	8	10	13	10	1	1	1	0	0	1	1	2	1	2	1	1	4	2	6	1	4	3	3	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.875G>T	p.Cys292Phe	p.C292F	ENST00000304129	8/19	99	81	18	101	101	0	strelka-mutect	AFAP1L2,missense_variant,p.Cys292Phe,ENST00000369271,NM_032550.3;AFAP1L2,missense_variant,p.Cys292Phe,ENST00000304129,NM_001287824.1,NM_001001936.2;AFAP1L2,missense_variant,p.Cys310Phe,ENST00000419268,;	A	ENST00000304129	Transcript	missense_variant	905/3705	875/2457	292/818	C/F	tGc/tTc		1		-1	AFAP1L2	HGNC	HGNC:25901	protein_coding	YES	CCDS31286.1	ENSP00000303042	Q8N4X5		UPI0000071FAF	NM_001287824.1,NM_001001936.2	deleterious(0.04)		8/19		hmmpanther:PTHR14338:SF4,hmmpanther:PTHR14338																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	114310361	114310361	C	A	1	0	0	0	0	1	0	0	0	432	710	25	2		2	AFAP1L2	10	114310361	Missense_Mutation	SNP	C	C3N-01410_TP	3488566	114310361	19487061	148	24542											
ATRNL1	0	.	GRCh38	chr10	115301879	115301879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaatcaaaatgcgaggcCgtgcaaaaagccatgctctc	14	7	8	12	2	2	0	1	0	1	0	4	1	3	0	3	1	4	2	3	1	5	0	rs202112185		C3N-01410_TP	C3N-01410_NB	C	C																c.2654C>A	p.Pro885Gln	p.P885Q	ENST00000355044	17/29	99	64	35	120	120	0	varscan-mutect	ATRNL1,missense_variant,p.Pro885Gln,ENST00000355044,NM_207303.4;ATRNL1,missense_variant,p.Pro15Gln,ENST00000526373,;ATRNL1,upstream_gene_variant,,ENST00000534530,;	A	ENST00000355044	Transcript	missense_variant	2780/8479	2654/4140	885/1379	P/Q	cCg/cAg	rs202112185	1		1	ATRNL1	HGNC	HGNC:29063	protein_coding	YES	CCDS7592.1	ENSP00000347152	Q5VV63		UPI000021CCF8	NM_207303.4	tolerated(1)		17/29		hmmpanther:PTHR10574:SF224,hmmpanther:PTHR10574																	MODERATE	1	SNV	1			1										PASS		rs202112185	.												A	3	1	75	115301879	115301879	C	A	1	0	0	0	0	1	0	0	0	1360	652	23	1		1	ATRNL1	10	115301879	Missense_Mutation	SNP	C	C3N-01410_TP	991518	115301879	18495543	149	24543											
NSMCE4A	0	.	GRCh38	chr10	121965369	121965369	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcacagggcactctcCgtatattgaacccaacctaa	11	10	7	13	1	1	1	0	1	1	0	2	1	1	1	3	2	2	3	3	2	5	5	rs143064887		C3N-01410_TP	C3N-01410_NB	C	C																c.670G>T	p.Gly224Ter	p.G224*	ENST00000369023	5/11	169	115	54	171	171	0	strelka-varscan-mutect	NSMCE4A,stop_gained,p.Gly224Ter,ENST00000369023,NM_001167865.1,NM_017615.2;NSMCE4A,stop_gained,p.Gly224Ter,ENST00000369017,;RP11-500G22.5,upstream_gene_variant,,ENST00000620490,;NSMCE4A,non_coding_transcript_exon_variant,,ENST00000489266,;NSMCE4A,non_coding_transcript_exon_variant,,ENST00000468209,;NSMCE4A,non_coding_transcript_exon_variant,,ENST00000464321,;NSMCE4A,downstream_gene_variant,,ENST00000472431,;NSMCE4A,downstream_gene_variant,,ENST00000465189,;NSMCE4A,downstream_gene_variant,,ENST00000481320,;NSMCE4A,upstream_gene_variant,,ENST00000483541,;	A	ENST00000369023	Transcript	stop_gained	722/1394	670/1158	224/385	G/*	Gga/Tga	rs143064887,COSM4573419	1		-1	NSMCE4A	HGNC	HGNC:25935	protein_coding	YES	CCDS7624.1	ENSP00000358019	Q9NXX6		UPI000013D40C	NM_001167865.1,NM_017615.2			5/11		hmmpanther:PTHR16140,hmmpanther:PTHR16140:SF2											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs143064887	.												A	4	1	75	121965369	121965369	C	A	1	0	0	0	0	0	1	0	0	10738	661	23	1		1	NSMCE4A	10	121965369	Nonsense_Mutation	SNP	C	C3N-01410_TP	6663490	121965369	11832053	150	24544											
TCERG1L	0	.	GRCh38	chr10	131260386	131260386	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaccatggcagcggcggcGgcggtggcgatggcaatggc	7	4	20	10	5	0	1	0	0	0	1	0	3	0	1	1	8	1	2	1	8	1	0	rs149055623		C3N-01410_TP	C3N-01410_NB	G	G																c.729C>G	p.=	p.A243A	ENST00000368642	4/12	51	37	14	45	45	0	strelka-varscan-mutect	TCERG1L,synonymous_variant,p.=,ENST00000368642,NM_174937.3;TCERG1L,upstream_gene_variant,,ENST00000483040,;	C	ENST00000368642	Transcript	synonymous_variant	815/2618	729/1761	243/586	A	gcC/gcG	rs149055623,COSM3665587,COSM4781383	1		-1	TCERG1L	HGNC	HGNC:23533	protein_coding	YES	CCDS7662.2	ENSP00000357631	Q5VWI1		UPI00004589C8	NM_174937.3			4/12		hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF5,Low_complexity_(Seg):seg											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs149055623	.												C	2	2	75	131260386	131260386	G	C	1	0	0	0	0	0	0	0	1	16093	1103	39	4		4	TCERG1L	10	131260386	Silent	SNP	G	C3N-01410_TP	9295017	131260386	2537036	151	24545											
MUC5B	0	.	GRCh38	chr11	1245652	1245652	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccaggcccagcctggTgtccccctgcgggagttggg	3	7	16	15	2	0	0	0	0	0	0	1	1	1	1	5	4	3	1	5	4	0	1	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.8772T>C	p.=	p.G2924G	ENST00000529681	31/49	108	83	25	80	80	0	strelka-varscan-mutect	MUC5B,synonymous_variant,p.=,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;	C	ENST00000529681	Transcript	synonymous_variant	8830/17911	8772/17289	2924/5762	G	ggT/ggC		1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2			31/49		Pfam_domain:PF13330																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	75	1245652	1245652	T	C	1	0	0	0	0	0	0	0	1	9979	1683	59	5		5	MUC5B	11	1245652	Silent	SNP	T	C3N-01410_TP		1245652	133840970	152	24546											
MUC5B	0	.	GRCh38	chr11	1249759	1249759	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accacacccacagccaccagTtccaaagccacttcctcctc	11	6	3	21	0	0	0	0	0	0	0	4	0	3	0	8	0	2	1	8	0	1	2	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.12879T>C	p.=	p.S4293S	ENST00000529681	31/49	229	185	44	254	254	0	strelka-varscan-mutect	MUC5B,synonymous_variant,p.=,ENST00000529681,NM_002458.2;RP11-532E4.2,upstream_gene_variant,,ENST00000532061,;	C	ENST00000529681	Transcript	synonymous_variant	12937/17911	12879/17289	4293/5762	S	agT/agC		1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2			31/49		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	75	1249759	1249759	T	C	1	0	0	0	0	0	0	0	1	9979	1722	60	5		5	MUC5B	11	1249759	Silent	SNP	T	C3N-01410_TP	4107	1249759	133836863	153	24547											
TRPM5	0	.	GRCh38	chr11	2412915	2412915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccccaggaacacagtcaCgggagcgccccagaatttcc	10	6	10	15	2	1	1	1	0	0	1	3	3	3	3	5	2	2	1	5	2	2	2	rs754942616		C3N-01410_TP	C3N-01410_NB	C	C																c.2194G>A	p.Val732Met	p.V732M	ENST00000155858	15/24	261	208	53	298	298	0	strelka-varscan-mutect	TRPM5,missense_variant,p.Val732Met,ENST00000155858,NM_014555.3;TRPM5,missense_variant,p.Val726Met,ENST00000533881,;TRPM5,missense_variant,p.Val732Met,ENST00000533060,;TRPM5,missense_variant,p.Val732Met,ENST00000528453,;	T	ENST00000155858	Transcript	missense_variant	2203/3929	2194/3498	732/1165	V/M	Gtg/Atg	rs754942616,COSM428852	1		-1	TRPM5	HGNC	HGNC:14323	protein_coding	YES	CCDS31340.1	ENSP00000155858	Q9NZQ8		UPI000003B069	NM_014555.3	deleterious(0)		15/24		Transmembrane_helices:TMhelix,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF5											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs754942616	.												T	3	4	75	2412915	2412915	C	T	1	0	0	0	0	1	0	0	0	17095	536	19	1		1	TRPM5	11	2412915	Missense_Mutation	SNP	C	C3N-01410_TP	1163156	2412915	132673707	154	24548											
RRM1	0	.	GRCh38	chr11	4106046	4106046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttggttttatttttgtagGctcagatcaccatgaaagta	10	17	8	6	0	3	2	2	1	1	1	3	2	3	2	1	2	0	4	1	2	4	7	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.109G>T	p.Ala37Ser	p.A37S	ENST00000300738	3/19	225	179	46	245	245	0	strelka-varscan-mutect	RRM1,missense_variant,p.Ala37Ser,ENST00000300738,NM_001033.3;RRM1,splice_region_variant,,ENST00000526865,;RRM1,splice_region_variant,,ENST00000532710,;RRM1,missense_variant,p.Arg65Ser,ENST00000532170,;RRM1,splice_region_variant,,ENST00000526350,;RRM1,splice_region_variant,,ENST00000530368,;RRM1,intron_variant,,ENST00000533349,NM_001318064.1;	T	ENST00000300738	Transcript	missense_variant,splice_region_variant	313/3076	109/2379	37/792	A/S	Gct/Tct		1		1	RRM1	HGNC	HGNC:10451	protein_coding	YES	CCDS7750.1	ENSP00000300738	P23921		UPI0000000C7C	NM_001033.3	tolerated_low_confidence(0.1)		3/19		PROSITE_profiles:PS51161,hmmpanther:PTHR11573,Pfam_domain:PF03477,Superfamily_domains:SSF48168																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	4106046	4106046	G	T	1	0	0	0	0	1	0	0	0	13935	1217	42	2		2	RRM1	11	4106046	Missense_Mutation	SNP	G	C3N-01410_TP	1693131	4106046	130980576	155	24549											
OR51A7	0	.	GRCh38	chr11	4908169	4908169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatcactttgccaagcacaAaagccctcttgttgtgatcc	10	11	7	13	0	2	1	1	1	1	0	3	1	3	1	3	0	3	3	3	0	3	3	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.800A>G	p.Lys267Arg	p.K267R	ENST00000359350	1/1	310	260	50	325	325	0	strelka-varscan-mutect	OR51A7,missense_variant,p.Lys267Arg,ENST00000359350,NM_001004749.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	G	ENST00000359350	Transcript	missense_variant	800/939	800/939	267/312	K/R	aAa/aGa		1		1	OR51A7	HGNC	HGNC:15188	protein_coding	YES	CCDS31364.1	ENSP00000352305	Q8NH64		UPI0000041C23	NM_001004749.1	tolerated(0.25)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF120,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												G	3	3	75	4908169	4908169	A	G	1	0	0	0	0	1	0	0	0	11163	14	1	5		5	OR51A7	11	4908169	Missense_Mutation	SNP	A	C3N-01410_TP	802123	4908169	130178453	156	24550											
OR52E8	0	.	GRCh38	chr11	5857407	5857407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaaaggcagcctccaaaaGatatttctttggtattgaac	14	11	9	7	0	1	3	0	1	1	2	2	4	2	3	2	2	2	2	2	2	6	5			C3N-01410_TP	C3N-01410_NB	G	G																c.296C>G	p.Ser99Cys	p.S99C	ENST00000537935	1/1	192	160	32	198	198	0	strelka-varscan-mutect	OR52E8,missense_variant,p.Ser99Cys,ENST00000537935,NM_001005168.1;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	C	ENST00000537935	Transcript	missense_variant	328/1061	296/954	99/317	S/C	tCt/tGt	COSM3450174	1		-1	OR52E8	HGNC	HGNC:15217	protein_coding	YES	CCDS31400.1	ENSP00000444054	Q6IFG1	A0A126GVH0	UPI000004B211	NM_001005168.1	tolerated(0.1)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF170,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245											1						MODERATE	1	SNV			1	1										PASS		.	.												C	3	2	75	5857407	5857407	G	C	1	0	0	0	0	1	0	0	0	11191	942	33	4		4	OR52E8	11	5857407	Missense_Mutation	SNP	G	C3N-01410_TP	949238	5857407	129229215	157	24551											
OR56A4	0	.	GRCh38	chr11	6002749	6002749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagatggccaggaccttggGgatgacggtgaggcagagca	11	5	18	7	1	0	4	0	2	0	2	0	7	0	6	2	6	1	2	2	6	1	1			C3N-01410_TP	C3N-01410_NB	G	G																c.400C>T	p.Pro134Ser	p.P134S	ENST00000330728	1/1	127	104	23	141	140	1	strelka-varscan-mutect	OR56A4,missense_variant,p.Pro134Ser,ENST00000330728,NM_001005179.2;	A	ENST00000330728	Transcript	missense_variant	446/1209	400/1098	134/365	P/S	Ccc/Tcc	COSM1298261	1		-1	OR56A4	HGNC	HGNC:14791	protein_coding	YES	CCDS31404.1	ENSP00000328215	Q8NGH8		UPI000041A756	NM_001005179.2	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF81,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	75	6002749	6002749	G	A	1	0	0	0	0	1	0	0	0	11207	1232	43	3		3	OR56A4	11	6002749	Missense_Mutation	SNP	G	C3N-01410_TP	145342	6002749	129083873	158	24552											
ILK	0	.	GRCh38	chr11	6609379	6609379	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagtacaaggaagagcagGgacttcaatgaagagtgtcc	14	7	14	6	0	1	3	1	1	0	2	2	6	2	6	1	3	2	2	1	3	5	2			C3N-01410_TP	C3N-01410_NB	G	G																c.699G>C	p.Arg233Ser	p.R233S	ENST00000396751	7/12	493	403	90	518	518	0	strelka-varscan-mutect	ILK,missense_variant,p.Arg233Ser,ENST00000396751,NM_001014795.2;ILK,missense_variant,p.Arg233Ser,ENST00000299421,NM_001014794.2,NM_004517.3;ILK,missense_variant,p.Arg264Ser,ENST00000537806,;ILK,missense_variant,p.Arg233Ser,ENST00000420936,;ILK,missense_variant,p.Arg99Ser,ENST00000532063,NM_001278442.1;ILK,missense_variant,p.Arg172Ser,ENST00000528995,NM_001278441.1;ILK,intron_variant,,ENST00000526318,;TPP1,downstream_gene_variant,,ENST00000299427,NM_000391.3;TPP1,downstream_gene_variant,,ENST00000533371,;TAF10,downstream_gene_variant,,ENST00000299424,NM_006284.3;TAF10,downstream_gene_variant,,ENST00000527248,;ILK,downstream_gene_variant,,ENST00000627400,;RP11-732A19.2,intron_variant,,ENST00000527398,;RP11-732A19.8,upstream_gene_variant,,ENST00000527191,;ILK,non_coding_transcript_exon_variant,,ENST00000534706,;ILK,downstream_gene_variant,,ENST00000534565,;ILK,downstream_gene_variant,,ENST00000524735,;TAF10,downstream_gene_variant,,ENST00000531760,;ILK,3_prime_UTR_variant,,ENST00000526711,;ILK,3_prime_UTR_variant,,ENST00000527121,;TAF10,non_coding_transcript_exon_variant,,ENST00000616342,;ILK,non_coding_transcript_exon_variant,,ENST00000530016,;ILK,non_coding_transcript_exon_variant,,ENST00000528784,;ILK,downstream_gene_variant,,ENST00000526114,;TAF10,downstream_gene_variant,,ENST00000532344,;	C	ENST00000396751	Transcript	missense_variant	1155/2074	699/1359	233/452	R/S	agG/agC	COSM5373329	1		1	ILK	HGNC	HGNC:6040	protein_coding	YES	CCDS7768.1	ENSP00000379975	Q13418	V9HWF0	UPI0000000DC2	NM_001014795.2	deleterious(0.04)		7/12		Gene3D:3.30.200.20,Pfam_domain:PF07714,PIRSF_domain:PIRSF000654,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF30,Superfamily_domains:SSF56112											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	75	6609379	6609379	G	C	1	0	0	0	0	1	0	0	0	7616	1223	43	4		4	ILK	11	6609379	Missense_Mutation	SNP	G	C3N-01410_TP	606630	6609379	128477243	159	24553											
DCHS1	0	.	GRCh38	chr11	6625638	6625638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggttgggggatggtggggCgattgtcattggtgtcgatg	5	12	21	3	2	1	0	1	0	0	0	2	3	1	1	0	7	0	1	0	7	0	3	rs768078918		C3N-01410_TP	C3N-01410_NB	C	C																c.6821G>T	p.Arg2274Leu	p.R2274L	ENST00000299441	18/21	161	135	26	171	171	0	strelka-varscan-mutect	DCHS1,missense_variant,p.Arg2274Leu,ENST00000299441,NM_003737.3;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;RP11-732A19.6,upstream_gene_variant,,ENST00000526633,;	A	ENST00000299441	Transcript	missense_variant	7233/10765	6821/9897	2274/3298	R/L	cGc/cTc	rs768078918,COSM4676444	1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3	deleterious(0.03)		18/21		Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF335,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs768078918	.												A	3	1	75	6625638	6625638	C	A	1	0	0	0	0	1	0	0	0	4090	768	27	1		1	DCHS1	11	6625638	Missense_Mutation	SNP	C	C3N-01410_TP	16259	6625638	128460984	160	24554											
ZBED5	0	.	GRCh38	chr11	10853782	10853782	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctggtctagcacatttttTagagatgtaggcattatttt	9	17	9	6	0	1	1	0	0	1	1	1	2	1	1	1	2	1	3	1	2	4	8	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.1164A>G	p.=	p.L388L	ENST00000432999	3/3	167	135	32	146	146	0	strelka-varscan-mutect	ZBED5,synonymous_variant,p.=,ENST00000432999,NM_021211.3,NM_001143667.1;ZBED5,synonymous_variant,p.=,ENST00000413761,;ZBED5,downstream_gene_variant,,ENST00000526020,;ZBED5,downstream_gene_variant,,ENST00000534690,;ZBED5,downstream_gene_variant,,ENST00000526852,;ZBED5,downstream_gene_variant,,ENST00000528289,;ZBED5-AS1,upstream_gene_variant,,ENST00000501079,;ZBED5-AS1,upstream_gene_variant,,ENST00000529014,;ZBED5,intron_variant,,ENST00000525350,;ZBED5,intron_variant,,ENST00000533925,;ZBED5,downstream_gene_variant,,ENST00000530570,;	C	ENST00000432999	Transcript	synonymous_variant	1663/2741	1164/2082	388/693	L	ctA/ctG		1		-1	ZBED5	HGNC	HGNC:30803	protein_coding	YES		ENSP00000398106	Q49AG3		UPI000013CCBF	NM_021211.3,NM_001143667.1			3/3		hmmpanther:PTHR11697:SF118,hmmpanther:PTHR11697,Superfamily_domains:SSF53098																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	75	10853782	10853782	T	C	1	0	0	0	0	0	0	0	1	18082	1741	61	5		5	ZBED5	11	10853782	Silent	SNP	T	C3N-01410_TP	4228144	10853782	124232840	161	24555											
TEAD1	0	.	GRCh38	chr11	12883110	12883110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttttctcgagcagcaGcgagacccagactcggtgag	9	8	12	12	3	2	3	1	1	1	2	4	5	2	3	1	1	4	3	1	1	0	2	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.684G>T	p.Gln228His	p.Q228H	ENST00000527636	9/13	368	299	69	420	419	1	strelka-varscan-mutect	TEAD1,missense_variant,p.Gln132His,ENST00000526600,;TEAD1,missense_variant,p.Gln217His,ENST00000334310,;TEAD1,missense_variant,p.Gln228His,ENST00000527575,;TEAD1,missense_variant,p.Gln228His,ENST00000527636,NM_021961.5;	T	ENST00000527636	Transcript	missense_variant	1135/2544	684/1281	228/426	Q/H	caG/caT		1		1	TEAD1	HGNC	HGNC:11714	protein_coding	YES	CCDS7810.2	ENSP00000435233		H0YE88	UPI000013D412	NM_021961.5	deleterious(0.03)		9/13		hmmpanther:PTHR11834,PIRSF_domain:PIRSF002603																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	12883110	12883110	G	T	1	0	0	0	0	1	0	0	0	16149	962	34	2		2	TEAD1	11	12883110	Missense_Mutation	SNP	G	C3N-01410_TP	2029328	12883110	122203512	162	24556											
SPON1	0	.	GRCh38	chr11	14075353	14075353	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttcacagggccagcaTcgtacaaaaacgcattattt	12	12	6	11	2	2	0	1	0	1	0	3	0	2	0	1	1	3	3	1	1	4	5	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.488T>A	p.Ile163Asn	p.I163N	ENST00000576479	4/16	191	154	37	217	217	0	strelka-varscan-mutect	SPON1,missense_variant,p.Ile163Asn,ENST00000576479,NM_006108.3;	A	ENST00000576479	Transcript	missense_variant	704/4837	488/2424	163/807	I/N	aTc/aAc		1		1	SPON1	HGNC	HGNC:11252	protein_coding	YES	CCDS73262.1	ENSP00000460236	Q9HCB6		UPI000044404A	NM_006108.3	deleterious(0)		4/16		PROSITE_profiles:PS51019,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF18,Pfam_domain:PF02014																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	14075353	14075353	T	A	1	0	0	0	0	1	0	0	0	15435	1435	50	4		4	SPON1	11	14075353	Missense_Mutation	SNP	T	C3N-01410_TP	1192243	14075353	121011269	163	24557											
SLC6A5	0	.	GRCh38	chr11	20652381	20652381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtgctcggatggctaatGctcgcctgttccgtcatctg	5	13	12	11	3	2	0	1	0	1	0	5	1	3	1	2	3	2	4	2	3	1	2	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.2163G>T	p.Met721Ile	p.M721I	ENST00000525748	15/16	358	299	59	381	379	2	strelka-varscan-mutect	SLC6A5,missense_variant,p.Met721Ile,ENST00000525748,NM_004211.3;SLC6A5,non_coding_transcript_exon_variant,,ENST00000528440,;SLC6A5,3_prime_UTR_variant,,ENST00000298923,;	T	ENST00000525748	Transcript	missense_variant	2436/7084	2163/2394	721/797	M/I	atG/atT		1		1	SLC6A5	HGNC	HGNC:11051	protein_coding	YES	CCDS7854.1	ENSP00000434364	Q9Y345		UPI00004564A5	NM_004211.3	tolerated(0.08)		15/16		Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF158,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	20652381	20652381	G	T	1	0	0	0	0	1	0	0	0	14970	1319	46	2		2	SLC6A5	11	20652381	Missense_Mutation	SNP	G	C3N-01410_TP	6577028	20652381	114434241	164	24558											
OR4A16	0	.	GRCh38	chr11	55343792	55343792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actttataggactcactgtgGttgccaatggtggaataatt	11	14	10	6	0	1	0	1	0	0	0	1	2	1	2	1	4	1	1	1	4	5	6	rs570625324		C3N-01410_TP	C3N-01410_NB	G	G																c.592G>T	p.Val198Phe	p.V198F	ENST00000314721	1/1	377	311	66	310	310	0	strelka-varscan-mutect	OR4A16,missense_variant,p.Val198Phe,ENST00000314721,NM_001005274.1;	T	ENST00000314721	Transcript	missense_variant	592/987	592/987	198/328	V/F	Gtt/Ttt	rs570625324,COSM2157031	1		1	OR4A16	HGNC	HGNC:15153	protein_coding	YES	CCDS31499.1	ENSP00000325128	Q8NH70	A0A126GW87	UPI0000061EB2	NM_001005274.1	deleterious_low_confidence(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF355,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs570625324	.												T	3	4	75	55343792	55343792	G	T	1	0	0	0	0	1	0	0	0	11118	1261	44	2		2	OR4A16	11	55343792	Missense_Mutation	SNP	G	C3N-01410_TP	34691411	55343792	79742830	165	24559											
OR5D18	0	.	GRCh38	chr11	55820445	55820445	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaactccaggcacacagtCaaagtggcctctgtgtttta	13	10	8	10	0	2	0	1	0	1	0	3	0	3	0	2	2	1	2	2	2	4	2	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.816C>A	p.=	p.V272V	ENST00000333976	1/1	213	182	31	192	192	0	strelka-varscan-mutect	OR5D18,synonymous_variant,p.=,ENST00000333976,NM_001001952.1;	A	ENST00000333976	Transcript	synonymous_variant	816/942	816/942	272/313	V	gtC/gtA		1		1	OR5D18	HGNC	HGNC:15285	protein_coding	YES	CCDS31510.1	ENSP00000335025	Q8NGL1		UPI0000046197	NM_001001952.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	75	55820445	55820445	C	A	1	0	0	0	0	0	0	0	1	11227	813	29	2		2	OR5D18	11	55820445	Silent	SNP	C	C3N-01410_TP	476653	55820445	79266177	166	24560											
OR10AG1	0	.	GRCh38	chr11	55967733	55967733	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aataagtgatagtacctgctCcaaagaataagattacaact	18	10	6	7	0	0	3	0	1	0	2	1	3	1	3	2	0	4	2	2	0	9	5	rs867582684		C3N-01410_TP	C3N-01410_NB	C	C																c.731G>T	p.Gly244Val	p.G244V	ENST00000312345	1/1	186	117	69	192	192	0	strelka-varscan-mutect	OR10AG1,missense_variant,p.Gly244Val,ENST00000312345,NM_001005491.1;	A	ENST00000312345	Transcript	missense_variant	731/906	731/906	244/301	G/V	gGa/gTa	rs867582684	1		-1	OR10AG1	HGNC	HGNC:19607	protein_coding	YES	CCDS31514.1	ENSP00000311477	Q8NH19	A0A126GVM8	UPI000004B22B	NM_001005491.1	deleterious(0.04)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF159,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs867582684	.												A	3	1	75	55967733	55967733	C	A	1	0	0	0	0	1	0	0	0	10972	855	30	2		2	OR10AG1	11	55967733	Missense_Mutation	SNP	C	C3N-01410_TP	147288	55967733	79118889	167	24561											
OR4D9	0	.	GRCh38	chr11	59515776	59515776	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatcctataatttacacGctgaggaatcaggaaatgaa	16	10	7	8	1	2	2	2	2	0	0	3	4	3	4	1	2	1	1	1	2	7	4	rs145790540		C3N-01410_TP	C3N-01410_NB	G	G																c.864G>C	p.=	p.T288T	ENST00000329328	1/1	140	102	38	171	171	0	strelka-varscan-mutect	OR4D9,synonymous_variant,p.=,ENST00000329328,NM_001004711.1;	C	ENST00000329328	Transcript	synonymous_variant	864/945	864/945	288/314	T	acG/acC	rs145790540	1		1	OR4D9	HGNC	HGNC:15178	protein_coding	YES	CCDS31564.1	ENSP00000328563	Q8NGE8	A0A126GVP8	UPI0000061EE8	NM_001004711.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF272,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs145790540	.												C	2	2	75	59515776	59515776	G	C	1	0	0	0	0	0	0	0	1	11136	1074	38	4		4	OR4D9	11	59515776	Silent	SNP	G	C3N-01410_TP	3548043	59515776	75570846	168	24562											
CTSC	0	.	GRCh38	chr11	88312507	88312507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcatgcacccacccagtCattgtctcgttgcagtaagt	10	11	7	13	1	3	0	2	0	1	0	4	0	3	0	2	0	2	4	2	0	1	3	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.366G>T	p.Met122Ile	p.M122I	ENST00000227266	3/7	177	60	117	145	145	0	strelka-varscan-mutect	CTSC,missense_variant,p.Met122Ile,ENST00000227266,NM_001814.4;CTSC,missense_variant,p.Met79Ile,ENST00000527018,;CTSC,non_coding_transcript_exon_variant,,ENST00000533865,;	A	ENST00000227266	Transcript	missense_variant	481/1921	366/1392	122/463	M/I	atG/atT		1		-1	CTSC	HGNC	HGNC:2528	protein_coding	YES	CCDS8282.1	ENSP00000227266	P53634		UPI000006D22D	NM_001814.4	tolerated(0.09)		3/7		Pfam_domain:PF08773,Gene3D:2djfA00,Superfamily_domains:SSF75001																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	88312507	88312507	C	A	1	0	0	0	0	1	0	0	0	3840	826	29	2		2	CTSC	11	88312507	Missense_Mutation	SNP	C	C3N-01410_TP	28796731	88312507	46774115	169	24563											
CUL5	0	.	GRCh38	chr11	108072390	108072390	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatggtatagagccaatgttGaaagacttggaggaacatat	16	10	11	4	0	0	3	0	1	0	2	0	5	0	5	1	3	2	2	1	3	7	5	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.933G>C	p.Leu311Phe	p.L311F	ENST00000393094	9/19	125	98	27	138	138	0	strelka-varscan-mutect	CUL5,missense_variant,p.Leu311Phe,ENST00000393094,NM_003478.3;CUL5,upstream_gene_variant,,ENST00000531843,;CUL5,missense_variant,p.Leu311Phe,ENST00000531427,;	C	ENST00000393094	Transcript	missense_variant	1549/6351	933/2343	311/780	L/F	ttG/ttC		1		1	CUL5	HGNC	HGNC:2556	protein_coding	YES	CCDS31668.1	ENSP00000376808	Q93034		UPI00001380B0	NM_003478.3	deleterious(0.01)		9/19		Gene3D:1.20.1310.10,Pfam_domain:PF00888,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF76,Superfamily_domains:SSF74788																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	75	108072390	108072390	G	C	1	0	0	0	0	1	0	0	0	3869	1281	45	4		4	CUL5	11	108072390	Missense_Mutation	SNP	G	C3N-01410_TP	19759883	108072390	27014232	170	24564											
ATM	0	.	GRCh38	chr11	108257499	108257499	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctctaatgcaatgtgcaGgagaaagtatcactctgttt	12	13	9	7	0	3	1	1	0	2	1	4	2	3	1	0	1	2	4	0	1	4	3	rs587779819		C3N-01410_TP	C3N-01410_NB	G	G																c.2269G>T	p.Gly757Ter	p.G757*	ENST00000278616	15/63	209	105	104	245	245	0	strelka-varscan-mutect	ATM,stop_gained,p.Gly757Ter,ENST00000278616,NM_000051.3;ATM,stop_gained,p.Gly757Ter,ENST00000452508,;ATM,stop_gained,p.Gly757Ter,ENST00000527805,;ATM,downstream_gene_variant,,ENST00000525012,;ATM,downstream_gene_variant,,ENST00000533526,;	T	ENST00000278616	Transcript	stop_gained	2654/13147	2269/9171	757/3056	G/*	Gga/Tga	rs587779819	1		1	ATM	HGNC	HGNC:795	protein_coding	YES	CCDS31669.1	ENSP00000278616	Q13315	A0A024R3C7	UPI000016B511	NM_000051.3			15/63		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF72										uncertain_significance							HIGH	1	SNV	5		1	1										PASS		rs587779819	.												T	4	4	75	108257499	108257499	G	T	1	0	0	0	0	0	1	0	0	1261	1001	35	2		2	ATM	11	108257499	Nonsense_Mutation	SNP	G	C3N-01410_TP	185109	108257499	26829123	171	24565											
NCAM1	0	.	GRCh38	chr11	113232723	113232723	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttccttctaaaggtgacCccagactctgagaatgattt	10	14	7	10	0	3	4	0	3	3	2	4	5	4	4	3	1	0	0	3	1	3	5	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1509C>A	p.=	p.T503T	ENST00000619839	13/21	155	65	90	141	141	0	strelka-varscan-mutect	NCAM1,synonymous_variant,p.=,ENST00000615285,;NCAM1,synonymous_variant,p.=,ENST00000615112,;NCAM1,synonymous_variant,p.=,ENST00000618266,;NCAM1,synonymous_variant,p.=,ENST00000316851,NM_181351.4;NCAM1,synonymous_variant,p.=,ENST00000621518,;NCAM1,synonymous_variant,p.=,ENST00000621128,NM_001242608.1;NCAM1,synonymous_variant,p.=,ENST00000619839,NM_001242607.1;NCAM1,synonymous_variant,p.=,ENST00000531044,NM_000615.6;NCAM1,synonymous_variant,p.=,ENST00000621850,NM_001076682.3;NCAM1,synonymous_variant,p.=,ENST00000401611,;NCAM1,synonymous_variant,p.=,ENST00000526322,;NCAM1,synonymous_variant,p.=,ENST00000530543,;NCAM1,intron_variant,,ENST00000620046,;NCAM1,upstream_gene_variant,,ENST00000533073,;NCAM1,upstream_gene_variant,,ENST00000528590,;NCAM1,downstream_gene_variant,,ENST00000613217,;NCAM1,non_coding_transcript_exon_variant,,ENST00000611284,;NCAM1,non_coding_transcript_exon_variant,,ENST00000534046,;NCAM1,upstream_gene_variant,,ENST00000531817,;NCAM1,upstream_gene_variant,,ENST00000525355,;	A	ENST00000619839	Transcript	synonymous_variant	1847/2993	1509/2655	503/884	T	acC/acA		1		1	NCAM1	HGNC	HGNC:7656	protein_coding	YES	CCDS73384.1	ENSP00000480132		A0A087WWD4	UPI00021269F1	NM_001242607.1			13/21		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF34,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	75	113232723	113232723	C	A	1	0	0	0	0	0	0	0	1	10218	637	22	2		2	NCAM1	11	113232723	Silent	SNP	C	C3N-01410_TP	4975224	113232723	21853899	172	24566											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3N-01410_TP	C3N-01410_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	355	220	135	303	303	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												A	3	1	75	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	C3N-01410_TP		25245351	108029958	173	24567											
SSPN	0	.	GRCh38	chr12	26195788	26195788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgggggcccccaaggagtGcggggaggaggagccccgga	8	1	20	12	3	0	0	0	0	0	0	0	5	0	5	4	8	2	0	4	8	1	0	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.116G>T	p.Cys39Phe	p.C39F	ENST00000242729	1/3	96	65	31	87	87	0	strelka-varscan-mutect	SSPN,missense_variant,p.Cys39Phe,ENST00000242729,NM_005086.4;SSPN,missense_variant,p.Cys39Phe,ENST00000535504,;SSPN,intron_variant,,ENST00000422622,NM_001135823.1;SSPN,intron_variant,,ENST00000540266,;SSPN,intron_variant,,ENST00000538142,;SSPN,intron_variant,,ENST00000544231,;SSPN,intron_variant,,ENST00000534829,;	T	ENST00000242729	Transcript	missense_variant	293/2788	116/732	39/243	C/F	tGc/tTc		1		1	SSPN	HGNC	HGNC:11322	protein_coding	YES	CCDS8707.1	ENSP00000242729	Q14714		UPI0000135FF0	NM_005086.4	tolerated(0.53)		1/3		hmmpanther:PTHR15260																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	26195788	26195788	G	T	1	0	0	0	0	1	0	0	0	15565	1319	46	2		2	SSPN	12	26195788	Missense_Mutation	SNP	G	C3N-01410_TP	950437	26195788	107079521	174	24568											
PKP2	0	.	GRCh38	chr12	32869030	32869030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctcgagcatactcactGctcgctccagagtcatctcc	7	10	7	17	2	3	1	2	0	1	1	7	2	4	1	3	0	4	3	3	0	1	1	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1067C>A	p.Ala356Glu	p.A356E	ENST00000070846	4/14	317	279	38	329	329	0	strelka-varscan-mutect	PKP2,missense_variant,p.Ala356Glu,ENST00000340811,NM_001005242.2;PKP2,missense_variant,p.Ala356Glu,ENST00000070846,NM_004572.3;	T	ENST00000070846	Transcript	missense_variant	1092/4241	1067/2646	356/881	A/E	gCa/gAa		1		-1	PKP2	HGNC	HGNC:9024	protein_coding	YES	CCDS8731.1	ENSP00000070846	Q99959		UPI000013C576	NM_004572.3	deleterious(0.03)		4/14		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF25,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	32869030	32869030	G	T	1	0	0	0	0	1	0	0	0	12081	1319	46	2		2	PKP2	12	32869030	Missense_Mutation	SNP	G	C3N-01410_TP	6673242	32869030	100406279	175	24569											
ADAMTS20	0	.	GRCh38	chr12	43376094	43376094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagttttcttcaccttGgaccagtgttaaatattcct	12	15	6	8	0	2	1	1	0	1	1	3	2	3	2	3	1	0	2	3	1	5	7	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.5275C>A	p.Gln1759Lys	p.Q1759K	ENST00000389420	35/39	178	144	34	140	140	0	strelka-varscan-mutect	ADAMTS20,missense_variant,p.Gln1759Lys,ENST00000389420,NM_025003.3;	T	ENST00000389420	Transcript	missense_variant	5275/6076	5275/5733	1759/1910	Q/K	Caa/Aaa		1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3	tolerated(1)		35/39		PROSITE_profiles:PS51046,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF08685																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	43376094	43376094	G	T	1	0	0	0	0	1	0	0	0	310	1357	47	2		2	ADAMTS20	12	43376094	Missense_Mutation	SNP	G	C3N-01410_TP	10507064	43376094	89899215	176	24570											
KRT18	0	.	GRCh38	chr12	52951810	52951810	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgctcacagagctgagacGtacagtccagtccttggaga	11	7	12	11	2	1	3	1	1	0	3	3	6	3	3	2	1	2	3	2	1	1	2	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.902G>C	p.Arg301Pro	p.R301P	ENST00000388835	5/7	549	472	77	451	451	0	strelka-varscan-mutect	KRT18,missense_variant,p.Arg301Pro,ENST00000550600,;KRT18,missense_variant,p.Arg301Pro,ENST00000388835,NM_000224.2;KRT18,missense_variant,p.Arg301Pro,ENST00000388837,NM_199187.1;KRT8,upstream_gene_variant,,ENST00000619952,;KRT8,upstream_gene_variant,,ENST00000552551,;KRT8,upstream_gene_variant,,ENST00000546897,NM_001256293.1;KRT8,upstream_gene_variant,,ENST00000546826,;KRT8,upstream_gene_variant,,ENST00000548998,;KRT8,upstream_gene_variant,,ENST00000549198,;KRT8,upstream_gene_variant,,ENST00000551318,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT18,non_coding_transcript_exon_variant,,ENST00000548496,;KRT18,non_coding_transcript_exon_variant,,ENST00000546656,;KRT18,downstream_gene_variant,,ENST00000548015,;KRT8,upstream_gene_variant,,ENST00000546921,;	C	ENST00000388835	Transcript	missense_variant	1112/1562	902/1293	301/430	R/P	cGt/cCt		1		1	KRT18	HGNC	HGNC:6430	protein_coding	YES	CCDS31809.1	ENSP00000373487	P05783	A0A024RAY2	UPI000004284B	NM_000224.2	deleterious(0.03)		5/7		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF35,Pfam_domain:PF00038,SMART_domains:SM01391,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		rs1169724462	.												C	3	2	75	52951810	52951810	G	C	1	0	0	0	0	1	0	0	0	8337	1145	40	4		4	KRT18	12	52951810	Missense_Mutation	SNP	G	C3N-01410_TP	9575716	52951810	80323499	177	24571											
TNS2	0	.	GRCh38	chr12	53054304	53054304	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgctcatggagcggcgcTgggacttagacctcacctac	8	7	11	15	3	2	1	2	0	0	1	2	3	2	3	3	3	2	2	3	3	2	2	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.415T>A	p.Trp139Arg	p.W139R	ENST00000314276	7/29	285	210	75	223	223	0	strelka-varscan-mutect	TNS2,missense_variant,p.Trp129Arg,ENST00000314250,NM_170754.2;TNS2,missense_variant,p.Trp139Arg,ENST00000314276,NM_015319.2;TNS2,missense_variant,p.Trp5Arg,ENST00000379902,NM_198316.1;TNS2,missense_variant,p.Trp129Arg,ENST00000552570,;TNS2,missense_variant,p.Trp129Arg,ENST00000549700,;TNS2,missense_variant,p.Trp129Arg,ENST00000546602,;TNS2,upstream_gene_variant,,ENST00000602335,;MIR6757,upstream_gene_variant,,ENST00000612099,;RP11-983P16.4,intron_variant,,ENST00000546793,;RP11-983P16.4,intron_variant,,ENST00000550601,;RP11-983P16.4,intron_variant,,ENST00000551890,;TNS2,non_coding_transcript_exon_variant,,ENST00000549311,;TNS2,non_coding_transcript_exon_variant,,ENST00000549498,;TNS2,non_coding_transcript_exon_variant,,ENST00000551693,;TNS2,upstream_gene_variant,,ENST00000547223,;TNS2,downstream_gene_variant,,ENST00000552403,;TNS2,downstream_gene_variant,,ENST00000551302,;TNS2,upstream_gene_variant,,ENST00000546759,;TNS2,upstream_gene_variant,,ENST00000549789,;	A	ENST00000314276	Transcript	missense_variant	610/4944	415/4260	139/1419	W/R	Tgg/Agg		1		1	TNS2	HGNC	HGNC:19737	protein_coding	YES	CCDS8842.1	ENSP00000319756	Q63HR2		UPI000013F790	NM_015319.2	tolerated(0.05)		7/29		PROSITE_profiles:PS51181,hmmpanther:PTHR12305:SF58,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	53054304	53054304	T	A	1	0	0	0	0	1	0	0	0	16817	1580	55	4		4	TNS2	12	53054304	Missense_Mutation	SNP	T	C3N-01410_TP	102494	53054304	80221005	178	24572											
TIMELESS	0	.	GRCh38	chr12	56429047	56429047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatgaagaaagccaaggcCcacatataataggtctcatc	15	7	8	11	0	1	2	1	1	1	1	3	2	1	2	3	2	1	0	3	2	6	3	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1140G>T	p.Trp380Cys	p.W380C	ENST00000553532	11/29	351	239	112	393	393	0	strelka-varscan-mutect	TIMELESS,missense_variant,p.Trp380Cys,ENST00000553532,NM_003920.3;TIMELESS,missense_variant,p.Trp379Cys,ENST00000229201,;TIMELESS,upstream_gene_variant,,ENST00000557589,;	A	ENST00000553532	Transcript	missense_variant	1291/5121	1140/3627	380/1208	W/C	tgG/tgT		1		-1	TIMELESS	HGNC	HGNC:11813	protein_coding	YES	CCDS8918.1	ENSP00000450607	Q9UNS1		UPI000013C8EA	NM_003920.3	deleterious(0)		11/29		hmmpanther:PTHR22940,hmmpanther:PTHR22940:SF4																	MODERATE	1	SNV	1			1										PASS		rs1336041942	.												A	3	1	75	56429047	56429047	C	A	1	0	0	0	0	1	0	0	0	16342	624	22	2		2	TIMELESS	12	56429047	Missense_Mutation	SNP	C	C3N-01410_TP	3374743	56429047	76846262	179	24573											
NAV3	0	.	GRCh38	chr12	78177168	78177168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctttcaaacaagcctttGggaagaaaaagtccaccaag	15	9	8	9	0	2	1	1	0	1	1	3	2	3	2	3	1	2	1	3	1	6	3	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.5152G>T	p.Gly1718Trp	p.G1718W	ENST00000397909	27/40	300	256	44	314	314	0	strelka-varscan-mutect	NAV3,missense_variant,p.Gly1718Trp,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Gly1718Trp,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Gly613Trp,ENST00000552895,;NAV3,missense_variant,p.Gly340Trp,ENST00000550788,;NAV3,upstream_gene_variant,,ENST00000552300,;NAV3,upstream_gene_variant,,ENST00000548948,;	T	ENST00000397909	Transcript	missense_variant	5325/9821	5152/7158	1718/2385	G/W	Ggg/Tgg		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	deleterious(0)		27/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	78177168	78177168	G	T	1	0	0	0	0	1	0	0	0	10194	1348	47	2		2	NAV3	12	78177168	Missense_Mutation	SNP	G	C3N-01410_TP	21748121	78177168	55098141	180	24574											
LUM	0	.	GRCh38	chr12	91108422	91108422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagctcaagtcaaggtattcGagtgatttaagacctttaaa	15	12	8	6	1	2	2	2	1	0	1	3	3	2	2	1	1	1	2	1	1	7	6	rs144214151		C3N-01410_TP	C3N-01410_NB	G	G																c.558C>T	p.=	p.L186L	ENST00000266718	2/3	252	231	21	162	162	0	strelka-varscan-mutect	LUM,synonymous_variant,p.=,ENST00000266718,NM_002345.3;LUM,non_coding_transcript_exon_variant,,ENST00000546642,;LUM,intron_variant,,ENST00000548071,;	A	ENST00000266718	Transcript	synonymous_variant	1013/3008	558/1017	186/338	L	ctC/ctT	rs144214151,COSM944377	1		-1	LUM	HGNC	HGNC:6724	protein_coding	YES	CCDS9038.1	ENSP00000266718	P51884		UPI0000001C4D	NM_002345.3			2/3		PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF119,Pfam_domain:PF13516,Gene3D:3.80.10.10,SMART_domains:SM00365,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058,Prints_domain:PR00019											0,1						LOW	1	SNV	1		0,1	1										PASS		rs144214151	.												A	2	1	75	91108422	91108422	G	A	1	0	0	0	0	0	0	0	1	8992	1045	37	1		1	LUM	12	91108422	Silent	SNP	G	C3N-01410_TP	12931254	91108422	42166887	181	24575											
PLXNC1	0	.	GRCh38	chr12	94301014	94301014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcagtgattgcccaggCattcatggatgcattttctc	7	16	9	9	0	3	1	2	1	1	0	4	2	3	2	1	2	2	2	1	2	0	5	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.4343C>T	p.Ala1448Val	p.A1448V	ENST00000258526	28/31	190	154	36	129	129	0	strelka-varscan-mutect	PLXNC1,missense_variant,p.Ala1448Val,ENST00000258526,NM_005761.2;PLXNC1,missense_variant,p.Ala495Val,ENST00000547057,;PLXNC1,missense_variant,p.Ala187Val,ENST00000545312,;PLXNC1,3_prime_UTR_variant,,ENST00000549217,;	T	ENST00000258526	Transcript	missense_variant	4592/7346	4343/4707	1448/1568	A/V	gCa/gTa		1		1	PLXNC1	HGNC	HGNC:9106	protein_coding	YES	CCDS9049.1	ENSP00000258526	O60486		UPI0000038AF4	NM_005761.2	deleterious(0)		28/31		hmmpanther:PTHR22625:SF4,hmmpanther:PTHR22625,Pfam_domain:PF08337,Superfamily_domains:SSF48350																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	94301014	94301014	C	T	1	0	0	0	0	1	0	0	0	12232	710	25	3		3	PLXNC1	12	94301014	Missense_Mutation	SNP	C	C3N-01410_TP	3192592	94301014	38974295	182	24576											
TMCC3	0	.	GRCh38	chr12	94582085	94582085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgctctccatgcaatgggGggcagttcgagatttcacgt	7	11	13	10	2	2	1	1	0	1	1	4	2	2	1	1	3	2	5	1	3	1	2	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.532C>T	p.Pro178Ser	p.P178S	ENST00000261226	2/4	224	194	30	187	187	0	strelka-varscan-mutect	TMCC3,missense_variant,p.Pro178Ser,ENST00000261226,NM_020698.3;TMCC3,missense_variant,p.Pro147Ser,ENST00000551457,NM_001301036.1;TMCC3,downstream_gene_variant,,ENST00000548918,;	A	ENST00000261226	Transcript	missense_variant	664/5877	532/1434	178/477	P/S	Ccc/Tcc		1		-1	TMCC3	HGNC	HGNC:29199	protein_coding	YES	CCDS31877.1	ENSP00000261226	Q9ULS5		UPI00001FB2DD	NM_020698.3	tolerated(0.62)		2/4		Pfam_domain:PF10267,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	94582085	94582085	G	A	1	0	0	0	0	1	0	0	0	16440	1232	43	3		3	TMCC3	12	94582085	Missense_Mutation	SNP	G	C3N-01410_TP	281071	94582085	38693224	183	24577											
ANKS1B	0	.	GRCh38	chr12	99246473	99246473	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatgaccttattctcccCagagtacaggctctctccac	9	10	7	15	0	2	2	0	1	2	1	5	2	3	2	4	2	1	3	4	2	3	3	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.2148G>T	p.=	p.L716L	ENST00000547776	13/26	184	152	32	128	128	0	strelka-varscan-mutect	ANKS1B,synonymous_variant,p.=,ENST00000547776,NM_152788.4;ANKS1B,synonymous_variant,p.=,ENST00000547010,;ANKS1B,downstream_gene_variant,,ENST00000549866,;ANKS1B,upstream_gene_variant,,ENST00000550778,;ANKS1B,non_coding_transcript_exon_variant,,ENST00000550833,;ANKS1B,non_coding_transcript_exon_variant,,ENST00000546631,;ANKS1B,downstream_gene_variant,,ENST00000550157,;	A	ENST00000547776	Transcript	synonymous_variant	2148/3885	2148/3747	716/1248	L	ctG/ctT		1		-1	ANKS1B	HGNC	HGNC:24600	protein_coding	YES	CCDS55872.1	ENSP00000449629	Q7Z6G8		UPI00003FE521	NM_152788.4			13/26		hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3																	LOW	1	SNV	1			1										PASS		rs1458384655	.												A	2	1	75	99246473	99246473	C	A	1	0	0	0	0	0	0	0	1	795	581	21	2		2	ANKS1B	12	99246473	Silent	SNP	C	C3N-01410_TP	4664388	99246473	34028836	184	24578											
SVOP	0	.	GRCh38	chr12	108938864	108938864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttccccagcggcatgggaGctccgttttcagttgctatc	5	13	11	12	2	1	0	1	0	0	0	4	1	3	1	3	2	3	6	3	2	1	5	rs374889554		C3N-01410_TP	C3N-01410_NB	G	G																c.860C>A	p.Ala287Asp	p.A287D	ENST00000610966	9/16	275	214	61	274	274	0	strelka-varscan-mutect	SVOP,missense_variant,p.Ala287Asp,ENST00000610966,NM_018711.4;SVOP,non_coding_transcript_exon_variant,,ENST00000551211,;SVOP,downstream_gene_variant,,ENST00000550436,;	T	ENST00000610966	Transcript	missense_variant	1232/6813	860/1647	287/548	A/D	gCt/gAt	rs374889554	1		-1	SVOP	HGNC	HGNC:25417	protein_coding	YES	CCDS73520.1	ENSP00000479104	Q8N4V2		UPI000006E50F	NM_018711.4	deleterious(0.04)		9/16		PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF280,hmmpanther:PTHR24064,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00898,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		rs374889554	.												T	3	4	75	108938864	108938864	G	T	1	0	0	0	0	1	0	0	0	15808	971	34	2		2	SVOP	12	108938864	Missense_Mutation	SNP	G	C3N-01410_TP	9692391	108938864	24336445	185	24579											
UBE3B	0	.	GRCh38	chr12	109521157	109521157	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctcttggcaggacggctacGagcagcttaggcagctctcc	7	8	13	13	2	2	0	0	0	2	0	3	2	2	1	1	4	4	7	1	4	2	3	rs145812083		C3N-01410_TP	C3N-01410_NB	G	G																c.2086G>C	p.Glu696Gln	p.E696Q	ENST00000342494	20/28	121	85	36	93	93	0	strelka-varscan-mutect	UBE3B,missense_variant,p.Glu696Gln,ENST00000342494,NM_130466.3;UBE3B,missense_variant,p.Glu696Gln,ENST00000434735,NM_183415.2;UBE3B,missense_variant,p.Glu696Gln,ENST00000539599,;UBE3B,3_prime_UTR_variant,,ENST00000449510,;UBE3B,non_coding_transcript_exon_variant,,ENST00000538070,;UBE3B,non_coding_transcript_exon_variant,,ENST00000539584,;	C	ENST00000342494	Transcript	missense_variant	2681/5722	2086/3207	696/1068	E/Q	Gag/Cag	rs145812083	1		1	UBE3B	HGNC	HGNC:13478	protein_coding	YES	CCDS9129.1	ENSP00000340596	Q7Z3V4	A0A024RBI2	UPI000013DC3B	NM_130466.3	tolerated(0.42)		20/28		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF352,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		rs145812083	.												C	3	2	75	109521157	109521157	G	C	1	0	0	0	0	1	0	0	0	17403	1059	37	4		4	UBE3B	12	109521157	Missense_Mutation	SNP	G	C3N-01410_TP	582293	109521157	23754152	186	24580											
ATXN2	0	.	GRCh38	chr12	111552319	111552319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtccatatctttaaactgtaCcacaacaaagtctgaacatt	15	12	4	10	0	2	1	0	1	2	0	3	1	3	1	2	0	4	1	2	0	7	5	rs776233562		C3N-01410_TP	C3N-01410_NB	C	C																c.1012G>T	p.Val338Leu	p.V338L	ENST00000377617	5/25	169	119	50	125	124	1	strelka-varscan-mutect	ATXN2,missense_variant,p.Val338Leu,ENST00000377617,NM_002973.3;ATXN2,missense_variant,p.Val338Leu,ENST00000550104,;ATXN2,missense_variant,p.Val49Leu,ENST00000616825,;ATXN2,missense_variant,p.Val178Leu,ENST00000608853,;ATXN2,missense_variant,p.Val73Leu,ENST00000389153,;ATXN2,missense_variant,p.Val73Leu,ENST00000542287,;ATXN2,missense_variant,p.Val49Leu,ENST00000535949,;ATXN2,missense_variant,p.Val81Leu,ENST00000548492,;ATXN2,intron_variant,,ENST00000549455,;ATXN2,missense_variant,p.Val259Leu,ENST00000483311,;ATXN2,non_coding_transcript_exon_variant,,ENST00000392645,;ATXN2,non_coding_transcript_exon_variant,,ENST00000471866,;	A	ENST00000377617	Transcript	missense_variant	1174/4702	1012/3942	338/1313	V/L	Gta/Tta	rs776233562	1		-1	ATXN2	HGNC	HGNC:10555	protein_coding	YES	CCDS31902.1	ENSP00000366843	Q99700		UPI0000DBEEFC	NM_002973.3	tolerated(0.08)		5/25		hmmpanther:PTHR12854:SF11,hmmpanther:PTHR12854,Pfam_domain:PF14438																	MODERATE	1	SNV	1			1										PASS		rs776233562	.												A	3	1	75	111552319	111552319	C	A	1	0	0	0	0	1	0	0	0	1365	507	18	2		2	ATXN2	12	111552319	Missense_Mutation	SNP	C	C3N-01410_TP	2031162	111552319	21722990	187	24581											
KNTC1	0	.	GRCh38	chr12	122573181	122573181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccgaatgtttgataaaGtgctggccccagagcttatt	9	14	10	8	1	0	2	0	1	0	1	1	3	1	2	3	1	2	4	3	1	4	5	rs759849356		C3N-01410_TP	C3N-01410_NB	G	G																c.2179G>T	p.Val727Leu	p.V727L	ENST00000333479	26/64	290	241	49	241	240	1	strelka-varscan-mutect	KNTC1,missense_variant,p.Val727Leu,ENST00000333479,NM_014708.4;KNTC1,missense_variant,p.Val690Leu,ENST00000450485,;	T	ENST00000333479	Transcript	missense_variant	2356/6975	2179/6630	727/2209	V/L	Gtg/Ttg	rs759849356,COSM4654688	1		1	KNTC1	HGNC	HGNC:17255	protein_coding	YES	CCDS45002.1	ENSP00000328236	P50748		UPI0000047FD6	NM_014708.4	deleterious(0.01)		26/64		hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs759849356	.												T	3	4	75	122573181	122573181	G	T	1	0	0	0	0	1	0	0	0	8308	1029	36	2		2	KNTC1	12	122573181	Missense_Mutation	SNP	G	C3N-01410_TP	11020862	122573181	10702128	188	24582											
MMP17	0	.	GRCh38	chr12	131845166	131845166	+	Silent	SNP	G	G	T																															agcactcactttgacgcggtGgcccagatccggggtgaagc																								novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1017G>T	p.=	p.V339V	ENST00000360564	7/10	302	236	66	296	296	0	strelka-varscan-mutect	MMP17,synonymous_variant,p.=,ENST00000360564,NM_016155.4;MMP17,synonymous_variant,p.=,ENST00000535291,;MMP17,synonymous_variant,p.=,ENST00000534865,;MMP17,5_prime_UTR_variant,,ENST00000542648,;MMP17,downstream_gene_variant,,ENST00000545671,;MMP17,upstream_gene_variant,,ENST00000535004,;MMP17,downstream_gene_variant,,ENST00000545790,;MMP17,non_coding_transcript_exon_variant,,ENST00000535182,;MMP17,5_prime_UTR_variant,,ENST00000537848,;MMP17,downstream_gene_variant,,ENST00000542142,;MMP17,upstream_gene_variant,,ENST00000535271,;	T	ENST00000360564	Transcript	synonymous_variant	1119/2411	1017/1812	339/603	V	gtG/gtT		1		1	MMP17	HGNC	HGNC:7163	protein_coding	YES	CCDS31927.1	ENSP00000353767	Q9ULZ9		UPI00001AF305	NM_016155.4			7/10		Gene3D:2.110.10.10,Pfam_domain:PF00045,PIRSF_domain:PIRSF001191,PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF21,SMART_domains:SM00120,Superfamily_domains:SSF50923																	LOW	1	SNV	1			1										PASS		rs1192143072	.												T	2	4	75	131845166	131845166	G	T	1	0	0	0	0	0	0	0	1	9619	1335	47	2		2	MMP17	12	131845166	Silent	SNP	G	C3N-01410_TP	9271985	131845166	1430143	189	24583	512	2									
MMP17	0	.	GRCh38	chr12	131845167	131845167	+	Missense_Mutation	SNP	G	G	T																															gcactcactttgacgcggtgGcccagatccggggtgaagct																								novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1018G>T	p.Ala340Ser	p.A340S	ENST00000360564	7/10	299	235	64	293	291	2	strelka-varscan-mutect	MMP17,missense_variant,p.Ala340Ser,ENST00000360564,NM_016155.4;MMP17,missense_variant,p.Ala256Ser,ENST00000535291,;MMP17,missense_variant,p.Ala181Ser,ENST00000534865,;MMP17,5_prime_UTR_variant,,ENST00000542648,;MMP17,downstream_gene_variant,,ENST00000545671,;MMP17,upstream_gene_variant,,ENST00000535004,;MMP17,downstream_gene_variant,,ENST00000545790,;MMP17,non_coding_transcript_exon_variant,,ENST00000535182,;MMP17,5_prime_UTR_variant,,ENST00000537848,;MMP17,downstream_gene_variant,,ENST00000542142,;MMP17,upstream_gene_variant,,ENST00000535271,;	T	ENST00000360564	Transcript	missense_variant	1120/2411	1018/1812	340/603	A/S	Gcc/Tcc		1		1	MMP17	HGNC	HGNC:7163	protein_coding	YES	CCDS31927.1	ENSP00000353767	Q9ULZ9		UPI00001AF305	NM_016155.4	deleterious(0.02)		7/10		Gene3D:2.110.10.10,Pfam_domain:PF00045,PIRSF_domain:PIRSF001191,PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF21,SMART_domains:SM00120,Superfamily_domains:SSF50923																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	131845167	131845167	G	T	1	0	0	0	0	1	0	0	0	9619	1203	42	2		2	MMP17	12	131845167	Missense_Mutation	SNP	G	C3N-01410_TP	1	131845167	1430142	190	24584	512	2									
RNF6	0	.	GRCh38	chr13	26215186	26215186	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attccatttcttaaccttccCaatgttgagaaagatccttc	11	15	4	11	0	1	2	0	1	1	2	5	3	4	2	4	0	1	1	4	0	3	6	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.696G>T	p.Leu232Phe	p.L232F	ENST00000381588	5/5	227	97	130	182	181	1	strelka-varscan-mutect	RNF6,missense_variant,p.Leu232Phe,ENST00000381588,NM_005977.3;RNF6,missense_variant,p.Leu232Phe,ENST00000381570,NM_183044.2;RNF6,missense_variant,p.Leu232Phe,ENST00000346166,NM_183043.2;RNF6,non_coding_transcript_exon_variant,,ENST00000498039,;RNF6,intron_variant,,ENST00000468480,;RNF6,downstream_gene_variant,,ENST00000476347,;	A	ENST00000381588	Transcript	missense_variant	1288/3706	696/2058	232/685	L/F	ttG/ttT		1		-1	RNF6	HGNC	HGNC:10069	protein_coding	YES	CCDS9316.1	ENSP00000371000	Q9Y252	A0A024RDP2	UPI0000000A0A	NM_005977.3	tolerated(0.15)		5/5																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	26215186	26215186	C	A	1	0	0	0	0	1	0	0	0	13678	593	21	2		2	RNF6	13	26215186	Missense_Mutation	SNP	C	C3N-01410_TP		26215186	88149142	191	24585											
BRCA2	0	.	GRCh38	chr13	32356465	32356465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgccagagatatacaGgatatgcgaattaagaagaa	19	7	10	5	1	0	4	0	0	0	4	0	7	0	5	1	1	3	0	1	1	8	4	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.7473G>T	p.Gln2491His	p.Q2491H	ENST00000380152	15/27	304	152	152	287	287	0	strelka-varscan-mutect	BRCA2,missense_variant,p.Gln2491His,ENST00000380152,;BRCA2,missense_variant,p.Gln2491His,ENST00000544455,NM_000059.3;BRCA2,non_coding_transcript_exon_variant,,ENST00000614259,;	T	ENST00000380152	Transcript	missense_variant	7706/11986	7473/10257	2491/3418	Q/H	caG/caT		1		1	BRCA2	HGNC	HGNC:1101	protein_coding	YES	CCDS9344.1	ENSP00000369497	P51587		UPI00001FCBCC		deleterious(0)		15/27		hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,PIRSF_domain:PIRSF002397,Pfam_domain:PF09169,Superfamily_domains:SSF81872																	MODERATE	1	SNV	5			1										PASS		rs80359653	.												T	3	4	75	32356465	32356465	G	T	1	0	0	0	0	1	0	0	0	1669	991	35	2		2	BRCA2	13	32356465	Missense_Mutation	SNP	G	C3N-01410_TP	6141279	32356465	82007863	192	24586											
NEK5	0	.	GRCh38	chr13	52065565	52065565	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcgctcctccatcccActgcctcctgtttcccacag	5	10	7	19	1	0	1	0	1	0	0	5	1	5	1	6	1	1	2	6	1	0	1	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.1969T>A	p.Trp657Arg	p.W657R	ENST00000355568	22/22	199	107	92	167	167	0	strelka-varscan-mutect	NEK5,missense_variant,p.Trp657Arg,ENST00000355568,NM_199289.2;NEK5,missense_variant,p.Trp657Arg,ENST00000617045,;NEK5,upstream_gene_variant,,ENST00000529080,;NEK5,3_prime_UTR_variant,,ENST00000465811,;	T	ENST00000355568	Transcript	missense_variant	2109/2918	1969/2127	657/708	W/R	Tgg/Agg		1		-1	NEK5	HGNC	HGNC:7748	protein_coding	YES	CCDS31979.1	ENSP00000347767	Q6P3R8		UPI0000227E77	NM_199289.2	deleterious(0.01)		22/22		hmmpanther:PTHR24362,hmmpanther:PTHR24362:SF292																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	52065565	52065565	A	T	1	0	0	0	0	1	0	0	0	10355	159	6	4		4	NEK5	13	52065565	Missense_Mutation	SNP	A	C3N-01410_TP	19709100	52065565	62298763	193	24587											
CCDC168	0	.	GRCh38	chr13	102735607	102735607	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgctttgctttcaggtcTgtacatttggggagcatttt	7	18	10	6	0	2	0	1	0	1	0	2	1	2	1	0	3	4	4	0	3	2	7	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.15090A>T	p.=	p.T5030T	ENST00000322527	4/4	216	149	67	238	238	0	strelka-varscan-mutect	CCDC168,synonymous_variant,p.=,ENST00000322527,NM_001146197.1;	A	ENST00000322527	Transcript	synonymous_variant	15228/21466	15090/21246	5030/7081	T	acA/acT		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1			4/4		Pfam_domain:PF15804,hmmpanther:PTHR35542,hmmpanther:PTHR35542:SF1																	LOW	1	SNV	3			1										PASS		.	.												A	2	1	75	102735607	102735607	T	A	1	0	0	0	0	0	0	0	1	2484	1567	55	4		4	CCDC168	13	102735607	Silent	SNP	T	C3N-01410_TP	50670042	102735607	11628721	194	24588											
KLHL33	0	.	GRCh38	chr14	20430260	20430260	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagccaacaccgtgcaGccacaaaggcctcaaactcc	13	3	7	18	1	1	0	1	0	0	0	2	0	2	0	6	1	6	1	6	1	3	0	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.416C>G	p.Ala139Gly	p.A139G	ENST00000344581	2/4	320	252	68	349	349	0	strelka-varscan-mutect	KLHL33,missense_variant,p.Ala403Gly,ENST00000637228,;KLHL33,missense_variant,p.Ala403Gly,ENST00000636854,;KLHL33,missense_variant,p.Ala139Gly,ENST00000344581,NM_001109997.2;	C	ENST00000344581	Transcript	missense_variant	639/1863	416/1602	139/533	A/G	gCt/gGt		1		-1	KLHL33	HGNC	HGNC:31952	protein_coding	YES	CCDS53882.1	ENSP00000341549	A6NCF5		UPI00016630E8	NM_001109997.2	tolerated(0.11)		2/4		hmmpanther:PTHR24412:SF195,hmmpanther:PTHR24412,Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,SMART_domains:SM00875																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	75	20430260	20430260	G	C	1	0	0	0	0	1	0	0	0	8252	971	34	4		4	KLHL33	14	20430260	Missense_Mutation	SNP	G	C3N-01410_TP		20430260	86613458	195	24589											
TRIM9	0	.	GRCh38	chr14	50982948	50982948	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttattccatacctgccaAcagctttttaatgtcaactg	11	14	6	10	0	1	0	1	0	0	0	2	0	2	0	3	1	5	2	3	1	5	6	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.1840T>A	p.Leu614Met	p.L614M	ENST00000338969	10/12	140	64	76	69	69	0	strelka-varscan-mutect	TRIM9,missense_variant,p.Leu614Met,ENST00000338969,;TRIM9,intron_variant,,ENST00000298355,NM_015163.5;TRIM9,non_coding_transcript_exon_variant,,ENST00000557456,;TRIM9,non_coding_transcript_exon_variant,,ENST00000555933,;TRIM9,upstream_gene_variant,,ENST00000555170,;	T	ENST00000338969	Transcript	missense_variant	2230/3312	1840/2409	614/802	L/M	Ttg/Atg		1		-1	TRIM9	HGNC	HGNC:16288	protein_coding			ENSP00000342970	Q9C026		UPI00001B57AD		tolerated_low_confidence(0.14)		10/12		PROSITE_profiles:PS50188																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	75	50982948	50982948	A	T	1	0	0	0	0	1	0	0	0	17046	40	2	4		4	TRIM9	14	50982948	Missense_Mutation	SNP	A	C3N-01410_TP	30552688	50982948	56060770	196	24590											
ADAM21	0	.	GRCh38	chr14	70458054	70458054	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtagcacgccaacagttGgaatttgaagaggctgagaa	15	7	13	6	1	0	3	0	2	0	2	0	6	0	4	1	2	2	4	1	2	6	3	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.555G>A	p.=	p.L185L	ENST00000603540	2/2	218	114	104	162	162	0	strelka-varscan-mutect	ADAM21,synonymous_variant,p.=,ENST00000603540,NM_003813.3;RP11-486O13.4,intron_variant,,ENST00000556646,;	A	ENST00000603540	Transcript	synonymous_variant	813/2658	555/2169	185/722	L	ttG/ttA		1		1	ADAM21	HGNC	HGNC:200	protein_coding	YES	CCDS9804.1	ENSP00000474385	Q9UKJ8		UPI000013D756	NM_003813.3			2/2		hmmpanther:PTHR11905:SF116,hmmpanther:PTHR11905																	LOW	1	SNV	3			1										PASS		.	.												A	2	1	75	70458054	70458054	G	A	1	0	0	0	0	0	0	0	1	287	1339	47	3		3	ADAM21	14	70458054	Silent	SNP	G	C3N-01410_TP	19475106	70458054	36585664	197	24591											
SERPINA4	0	.	GRCh38	chr14	94564008	94564008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaacttctacgacactGtgggcacaatccagcttatc	12	9	6	14	1	1	0	0	0	1	0	3	1	2	0	2	1	3	2	2	1	4	3	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.526G>C	p.Val176Leu	p.V176L	ENST00000557004	2/5	698	627	71	526	526	0	strelka-varscan-mutect	SERPINA4,missense_variant,p.Val176Leu,ENST00000557004,NM_006215.3;SERPINA4,missense_variant,p.Val176Leu,ENST00000555095,NM_001289032.1;SERPINA4,missense_variant,p.Val176Leu,ENST00000298841,NM_001289033.1;SERPINA5,intron_variant,,ENST00000553780,;SERPINA5,intron_variant,,ENST00000554220,;	C	ENST00000557004	Transcript	missense_variant	947/2012	526/1284	176/427	V/L	Gtg/Ctg		1		1	SERPINA4	HGNC	HGNC:8948	protein_coding	YES	CCDS9927.1	ENSP00000450838	P29622	A0A024R6I9	UPI000000CBEF	NM_006215.3	tolerated(0.32)		2/5		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF194,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	75	94564008	94564008	G	C	1	0	0	0	0	1	0	0	0	14367	1377	48	4		4	SERPINA4	14	94564008	Missense_Mutation	SNP	G	C3N-01410_TP	24105954	94564008	12479710	198	24592											
NPAP1	0	.	GRCh38	chr15	24677149	24677149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctttgcccatccctGacttggctgacctggctact	5	12	8	16	0	0	2	0	2	0	0	2	2	2	2	4	2	3	3	4	2	1	3	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1282G>T	p.Asp428Tyr	p.D428Y	ENST00000329468	1/1	158	124	34	140	140	0	strelka-varscan-mutect	NPAP1,missense_variant,p.Asp428Tyr,ENST00000329468,NM_018958.2;	T	ENST00000329468	Transcript	missense_variant	1282/7526	1282/3471	428/1156	D/Y	Gac/Tac		1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2	tolerated(0.3)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	75	24677149	24677149	G	T	1	0	0	0	0	1	0	0	0	10609	1290	45	2		2	NPAP1	15	24677149	Missense_Mutation	SNP	G	C3N-01410_TP		24677149	77314040	199	24593											
GABRA5	0	.	GRCh38	chr15	26869256	26869256	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcttattgggaatggacaAtggaatgttctctggtttta	10	17	10	4	0	2	0	0	0	2	0	3	3	2	3	0	4	0	2	0	4	5	6	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.8A>G	p.Asn3Ser	p.N3S	ENST00000335625	3/11	110	87	23	114	114	0	strelka-varscan-mutect	GABRA5,missense_variant,p.Asn3Ser,ENST00000335625,NM_000810.3;GABRA5,missense_variant,p.Asn3Ser,ENST00000400081,NM_001165037.1;GABRA5,missense_variant,p.Asn3Ser,ENST00000355395,;GABRA5,missense_variant,p.Asn3Ser,ENST00000554596,;GABRA5,missense_variant,p.Asn3Ser,ENST00000554038,;GABRA5,missense_variant,p.Asn3Ser,ENST00000554599,;GABRA5,missense_variant,p.Asn3Ser,ENST00000555060,;GABRB3,intron_variant,,ENST00000541819,;GABRA5,intron_variant,,ENST00000555182,;GABRA5,non_coding_transcript_exon_variant,,ENST00000557449,;GABRA5,non_coding_transcript_exon_variant,,ENST00000557484,;	G	ENST00000335625	Transcript	missense_variant	896/3251	8/1389	3/462	N/S	aAt/aGt		1		1	GABRA5	HGNC	HGNC:4079	protein_coding	YES	CCDS45194.1	ENSP00000335592	P31644		UPI000002D731	NM_000810.3	tolerated_low_confidence(0.45)		3/11		Prints_domain:PR01618,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF23,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	75	26869256	26869256	A	G	1	0	0	0	0	1	0	0	0	6035	101	4	5		5	GABRA5	15	26869256	Missense_Mutation	SNP	A	C3N-01410_TP	2192107	26869256	75121933	200	24594											
FAM63B	0	.	GRCh38	chr15	58851902	58851903	+	Frame_Shift_Ins	INS	-	-	CAATA																															aagaggacagacgggcttctINScaatactatcaggaacagga																								novel		C3N-01410_TP	C3N-01410_NB	-	-																c.1676_1680dupAATAC	p.Tyr561AsnfsTer98	p.Y561Nfs*98	ENST00000559228	8/9	105	87	18	122	122	0	sindel-pindel	FAM63B,frameshift_variant,p.Tyr561AsnfsTer98,ENST00000559228,NM_001040450.1;FAM63B,frameshift_variant,p.Tyr561AsnfsTer97,ENST00000450403,NM_001040453.1;RP11-30K9.5,downstream_gene_variant,,ENST00000558042,;FAM63B,3_prime_UTR_variant,,ENST00000316848,;FAM63B,3_prime_UTR_variant,,ENST00000560289,;	CAATA	ENST00000559228	Transcript	frameshift_variant	1756-1757/9238	1674-1675/1866	558-559/621	-/QX	-/CAATA		1		1	FAM63B	HGNC	HGNC:26954	protein_coding	YES	CCDS42046.1	ENSP00000452885	Q8NBR6		UPI0000D74C47	NM_001040450.1			8/9		Low_complexity_(Seg):seg,hmmpanther:PTHR18063,hmmpanther:PTHR18063:SF8																	HIGH	1	insertion	2	6		1										PASS		.	.												CAATA	7	5	75	58851902	58851902	-	CAATA	1	0	1	1	0	0	0	0	0	5463	1538	54	0		0	FAM63B	15	58851902	Frame_Shift_Ins	INS	-	C3N-01410_TP	31982646	58851902	43139287	201	24595											
MYO9A	0	.	GRCh38	chr15	71938918	71938918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgttctgggatttttcCgggttatacctagcaaaatt	9	15	11	6	1	1	0	0	0	1	0	2	2	2	1	2	3	2	3	2	3	5	7	rs770800325		C3N-01410_TP	C3N-01410_NB	C	C																c.2312G>T	p.Arg771Leu	p.R771L	ENST00000356056	16/42	159	128	31	203	203	0	strelka-varscan-mutect	MYO9A,missense_variant,p.Arg771Leu,ENST00000356056,NM_006901.3;MYO9A,missense_variant,p.Arg771Leu,ENST00000564571,;MYO9A,missense_variant,p.Arg771Leu,ENST00000444904,;MYO9A,missense_variant,p.Arg391Leu,ENST00000566885,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563542,;MYO9A,non_coding_transcript_exon_variant,,ENST00000566744,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563648,;MYO9A,non_coding_transcript_exon_variant,,ENST00000567095,;MYO9A,non_coding_transcript_exon_variant,,ENST00000565528,;	A	ENST00000356056	Transcript	missense_variant	2785/12411	2312/7647	771/2548	R/L	cGg/cTg	rs770800325	1		-1	MYO9A	HGNC	HGNC:7608	protein_coding	YES	CCDS10239.1	ENSP00000348349	B2RTY4		UPI000013D213	NM_006901.3	deleterious(0.01)		16/42		PROSITE_profiles:PS51456,SMART_domains:SM00242																	MODERATE	1	SNV	1			1										PASS		rs770800325	.												A	3	1	75	71938918	71938918	C	A	1	0	0	0	0	1	0	0	0	10085	652	23	1		1	MYO9A	15	71938918	Missense_Mutation	SNP	C	C3N-01410_TP	13087016	71938918	30052271	202	24596											
NPTN	0	.	GRCh38	chr15	73561925	73561925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacttaatttgtgtttctCtggcgcaagtttttatcttt	7	21	7	6	1	2	0	0	0	2	0	3	0	2	0	0	1	1	4	0	1	4	8	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1182G>T	p.Gln394His	p.Q394H	ENST00000345330	8/9	95	78	17	112	112	0	strelka-varscan-mutect	NPTN,missense_variant,p.Gln278His,ENST00000351217,NM_017455.3;NPTN,missense_variant,p.Gln394His,ENST00000345330,NM_012428.3;NPTN,missense_variant,p.Gln390His,ENST00000563691,NM_001161363.1;NPTN,missense_variant,p.Gln274His,ENST00000562924,NM_001161364.1;NPTN,3_prime_UTR_variant,,ENST00000565325,;REC114,downstream_gene_variant,,ENST00000331090,NM_001042367.1;REC114,downstream_gene_variant,,ENST00000560581,;NPTN,non_coding_transcript_exon_variant,,ENST00000561898,;	A	ENST00000345330	Transcript	missense_variant	1380/2444	1182/1197	394/398	Q/H	caG/caT		1		-1	NPTN	HGNC	HGNC:17867	protein_coding	YES	CCDS10249.1	ENSP00000290401	Q9Y639		UPI0000072D5C	NM_012428.3	deleterious(0.03)		8/9		hmmpanther:PTHR10075:SF5,hmmpanther:PTHR10075																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	73561925	73561925	C	A	1	0	0	0	0	1	0	0	0	10657	912	32	2		2	NPTN	15	73561925	Missense_Mutation	SNP	C	C3N-01410_TP	1623007	73561925	28429264	203	24597											
LINGO1	0	.	GRCh38	chr15	77614895	77614895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagagacattgagcacgcGcaggtagttgaggccgcgga	10	5	16	10	4	0	3	0	2	0	1	0	5	0	4	2	3	1	4	2	3	1	3	rs763246298		C3N-01410_TP	C3N-01410_NB	G	G																c.1012C>T	p.Arg338Cys	p.R338C	ENST00000355300	2/2	295	236	59	261	261	0	strelka-varscan-mutect	LINGO1,missense_variant,p.Arg338Cys,ENST00000355300,NM_032808.6;LINGO1,missense_variant,p.Arg332Cys,ENST00000561030,NM_001301199.1,NM_001301194.1,NM_001301191.1,NM_001301197.1,NM_001301200.1,NM_001301187.1,NM_001301189.1,NM_001301186.1,NM_001301195.1,NM_001301198.1,NM_001301192.1;LINGO1,downstream_gene_variant,,ENST00000557798,;LINGO1,downstream_gene_variant,,ENST00000561686,;LINGO1,downstream_gene_variant,,ENST00000566711,;LINGO1,downstream_gene_variant,,ENST00000567726,;LINGO1,downstream_gene_variant,,ENST00000570216,;LINGO1,downstream_gene_variant,,ENST00000562933,;LINGO1,downstream_gene_variant,,ENST00000563316,;LINGO1,downstream_gene_variant,,ENST00000559893,;LINGO1,downstream_gene_variant,,ENST00000564472,;	A	ENST00000355300	Transcript	missense_variant	1187/3055	1012/1863	338/620	R/C	Cgc/Tgc	rs763246298,COSM965260	1		-1	LINGO1	HGNC	HGNC:21205	protein_coding	YES	CCDS45313.1	ENSP00000347451	Q96FE5		UPI00000377A0	NM_032808.6	deleterious(0)		2/2		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF31,SMART_domains:SM00369,Superfamily_domains:SSF52058											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs763246298	.												A	3	1	75	77614895	77614895	G	A	1	0	0	0	0	1	0	0	0	8735	1087	38	1		1	LINGO1	15	77614895	Missense_Mutation	SNP	G	C3N-01410_TP	4052970	77614895	24376294	204	24598											
CHSY1	0	.	GRCh38	chr15	101178492	101178492	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggttcacccggcggtaGccgtactggatctctttgaa	7	11	13	10	3	2	1	1	1	1	0	3	2	2	2	2	5	2	3	2	5	3	4	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1305C>T	p.=	p.G435G	ENST00000254190	3/3	259	182	77	156	156	0	strelka-varscan-mutect	CHSY1,synonymous_variant,p.=,ENST00000254190,NM_014918.4;CHSY1,non_coding_transcript_exon_variant,,ENST00000543813,;CHSY1,downstream_gene_variant,,ENST00000561414,;CHSY1,downstream_gene_variant,,ENST00000560766,;	A	ENST00000254190	Transcript	synonymous_variant	1781/4550	1305/2409	435/802	G	ggC/ggT		1		-1	CHSY1	HGNC	HGNC:17198	protein_coding	YES	CCDS10390.1	ENSP00000254190	Q86X52		UPI000000DB6C	NM_014918.4			3/3		hmmpanther:PTHR12369:SF16,hmmpanther:PTHR12369,Pfam_domain:PF05679																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	75	101178492	101178492	G	A	1	0	0	0	0	0	0	0	1	3172	958	34	3		3	CHSY1	15	101178492	Silent	SNP	G	C3N-01410_TP	23563597	101178492	812697	205	24599											
RAB11FIP3	0	.	GRCh38	chr16	520497	520497	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcagaacgaggagctgaaCgggcagatcattaccctcag	13	5	13	10	2	2	3	2	1	0	2	2	6	2	4	1	2	5	3	1	2	3	1	rs201637223		C3N-01410_TP	C3N-01410_NB	C	C																c.2055C>T	p.=	p.N685N	ENST00000262305	13/14	187	132	55	194	194	0	strelka-varscan-mutect	RAB11FIP3,synonymous_variant,p.=,ENST00000262305,NM_014700.3;RAB11FIP3,synonymous_variant,p.=,ENST00000434585,;RAB11FIP3,synonymous_variant,p.=,ENST00000450428,NM_001142272.1;LINC00235,downstream_gene_variant,,ENST00000622160,;RAB11FIP3,downstream_gene_variant,,ENST00000487899,;RAB11FIP3,downstream_gene_variant,,ENST00000461009,;RAB11FIP3,downstream_gene_variant,,ENST00000464263,;	T	ENST00000262305	Transcript	synonymous_variant	2443/4831	2055/2271	685/756	N	aaC/aaT	rs201637223,COSM3691060,COSM3691061	1		1	RAB11FIP3	HGNC	HGNC:17224	protein_coding	YES	CCDS32351.1	ENSP00000262305	O75154		UPI0000129C9C	NM_014700.3			13/14		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15726,hmmpanther:PTHR15726:SF6											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs201637223	.												T	2	4	75	520497	520497	C	T	1	0	0	0	0	0	0	0	1	13053	535	19	1		1	RAB11FIP3	16	520497	Silent	SNP	C	C3N-01410_TP		520497	89817848	206	24600											
WDR90	0	.	GRCh38	chr16	662831	662831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcacacgtctcatcagtgGccacaggagcaaggtgaggg	11	5	14	11	1	2	1	2	1	1	0	3	2	2	2	1	4	2	2	1	4	1	0	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.4298G>T	p.Gly1433Val	p.G1433V	ENST00000293879	34/41	140	95	45	139	139	0	strelka-varscan-mutect	WDR90,missense_variant,p.Gly1435Val,ENST00000549091,;WDR90,missense_variant,p.Gly1433Val,ENST00000293879,NM_145294.4;WDR90,upstream_gene_variant,,ENST00000547944,;WDR90,upstream_gene_variant,,ENST00000315764,;WDR90,upstream_gene_variant,,ENST00000551100,;WDR90,downstream_gene_variant,,ENST00000550739,;WDR90,upstream_gene_variant,,ENST00000546896,;WDR90,non_coding_transcript_exon_variant,,ENST00000548603,;WDR90,upstream_gene_variant,,ENST00000547543,;WDR90,downstream_gene_variant,,ENST00000548844,;WDR90,non_coding_transcript_exon_variant,,ENST00000547407,;WDR90,non_coding_transcript_exon_variant,,ENST00000546516,;WDR90,non_coding_transcript_exon_variant,,ENST00000552683,;WDR90,non_coding_transcript_exon_variant,,ENST00000549024,;WDR90,intron_variant,,ENST00000552728,;WDR90,downstream_gene_variant,,ENST00000552943,;WDR90,upstream_gene_variant,,ENST00000553080,;WDR90,downstream_gene_variant,,ENST00000546923,;WDR90,upstream_gene_variant,,ENST00000548448,;WDR90,downstream_gene_variant,,ENST00000550902,;	T	ENST00000293879	Transcript	missense_variant	4298/5488	4298/5247	1433/1748	G/V	gGc/gTc		1		1	WDR90	HGNC	HGNC:26960	protein_coding	YES	CCDS42092.1	ENSP00000293879	Q96KV7		UPI0000D67C48	NM_145294.4	deleterious(0)		34/41		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF24,hmmpanther:PTHR13720,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50998																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	75	662831	662831	G	T	1	0	0	0	0	1	0	0	0	17893	1203	42	2		2	WDR90	16	662831	Missense_Mutation	SNP	G	C3N-01410_TP	142334	662831	89675514	207	24601											
ZSCAN10	0	.	GRCh38	chr16	3090374	3090374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacagctgcgggaagctcaCcccgcagtccgcgcagatga	10	4	13	14	4	1	3	1	1	0	2	2	4	2	4	3	1	3	4	3	1	1	0	rs537870698		C3N-01410_TP	C3N-01410_NB	C	C																c.649G>T	p.Val217Leu	p.V217L	ENST00000538082	5/5	195	139	56	143	143	0	strelka-varscan-mutect	ZSCAN10,missense_variant,p.Val354Leu,ENST00000576985,NM_032805.2;ZSCAN10,missense_variant,p.Val299Leu,ENST00000252463,;ZSCAN10,missense_variant,p.Val217Leu,ENST00000538082,NM_001282416.1;ZSCAN10,5_prime_UTR_variant,,ENST00000575108,NM_001282415.1;ZSCAN10,5_prime_UTR_variant,,ENST00000572431,;ZSCAN10,downstream_gene_variant,,ENST00000576483,;ZSCAN10,downstream_gene_variant,,ENST00000572548,;RP11-473M20.9,upstream_gene_variant,,ENST00000571404,;RP11-473M20.9,upstream_gene_variant,,ENST00000574387,;RNU1-22P,downstream_gene_variant,,ENST00000363334,;ZSCAN10,non_coding_transcript_exon_variant,,ENST00000571903,;ZSCAN10,downstream_gene_variant,,ENST00000577059,;	A	ENST00000538082	Transcript	missense_variant	965/2350	649/1932	217/643	V/L	Gtg/Ttg	rs537870698	1		-1	ZSCAN10	HGNC	HGNC:12997	protein_coding	YES	CCDS61814.1	ENSP00000440047	Q96SZ4		UPI0001639829	NM_001282416.1	tolerated(0.34)		5/5		PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF369,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	4			1										PASS		rs537870698	.												A	3	1	75	3090374	3090374	C	A	1	0	0	0	0	1	0	0	0	18821	507	18	2		2	ZSCAN10	16	3090374	Missense_Mutation	SNP	C	C3N-01410_TP	2427543	3090374	87247971	208	24602											
ACSM2B	0	.	GRCh38	chr16	20548457	20548457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccatcatactcttgattGgataactggagagtgtctgg	10	12	10	9	0	3	2	1	1	2	1	3	4	3	3	1	3	2	0	1	3	2	4	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.911C>A	p.Pro304Gln	p.P304Q	ENST00000329697	7/14	250	198	52	264	264	0	strelka-varscan-mutect	ACSM2B,missense_variant,p.Pro304Gln,ENST00000329697,NM_001105069.1;ACSM2B,missense_variant,p.Pro304Gln,ENST00000414188,;ACSM2B,missense_variant,p.Pro304Gln,ENST00000565232,;ACSM2B,missense_variant,p.Pro304Gln,ENST00000567001,NM_182617.3;ACSM2B,missense_variant,p.Pro225Gln,ENST00000565322,;ACSM2B,missense_variant,p.Pro73Gln,ENST00000567288,;ACSM2B,downstream_gene_variant,,ENST00000569163,;ACSM2B,upstream_gene_variant,,ENST00000568098,;ACSM2B,3_prime_UTR_variant,,ENST00000569327,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000566998,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569364,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000563943,;ACSM2B,upstream_gene_variant,,ENST00000569131,;	T	ENST00000329697	Transcript	missense_variant	1080/2935	911/1734	304/577	P/Q	cCa/cAa		1		-1	ACSM2B	HGNC	HGNC:30931	protein_coding	YES	CCDS10586.1	ENSP00000327453	Q68CK6		UPI00001AFAA7	NM_001105069.1	deleterious(0.01)		7/14		Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF188,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	20548457	20548457	G	T	1	0	0	0	0	1	0	0	0	226	1348	47	2		2	ACSM2B	16	20548457	Missense_Mutation	SNP	G	C3N-01410_TP	17458083	20548457	69789888	209	24603											
ZNF629	0	.	GRCh38	chr16	30782066	30782066	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcctgagatgctccaggagGacggaagagctcttccccag	9	7	12	13	1	1	2	0	1	1	2	4	6	4	5	4	3	2	2	4	3	1	1	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.2262C>T	p.=	p.V754V	ENST00000262525	3/3	25	14	11	36	36	0	strelka-mutect	ZNF629,synonymous_variant,p.=,ENST00000262525,NM_001080417.1;	A	ENST00000262525	Transcript	synonymous_variant	2470/6087	2262/2610	754/869	V	gtC/gtT		1		-1	ZNF629	HGNC	HGNC:29008	protein_coding	YES	CCDS45463.1	ENSP00000262525	Q9UEG4		UPI00001C1FA5	NM_001080417.1			3/3		Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	75	30782066	30782066	G	A	1	0	0	0	0	0	0	0	1	18628	1161	41	3		3	ZNF629	16	30782066	Silent	SNP	G	C3N-01410_TP	10233609	30782066	59556279	210	24604											
ITGAX	0	.	GRCh38	chr16	31379788	31379788	+	Missense_Mutation	SNP	T	T	A																															gggacagagggacctgcctgTcagcatcaacttctgggtgc																								novel		C3N-01410_TP	C3N-01410_NB	T	T																c.2900T>A	p.Val967Asp	p.V967D	ENST00000562522	25/31	133	109	24	175	175	0	strelka-varscan-mutect	ITGAX,missense_variant,p.Val967Asp,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Val967Asp,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;	A	ENST00000562522	Transcript	missense_variant	2933/3990	2900/3510	967/1169	V/D	gTc/gAc		1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	deleterious(0)		25/31		Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	31379788	31379788	T	A	1	0	0	0	0	1	0	0	0	7796	1667	58	4		4	ITGAX	16	31379788	Missense_Mutation	SNP	T	C3N-01410_TP	597722	31379788	58958557	211	24605	513	2									
ITGAX	0	.	GRCh38	chr16	31379789	31379789	+	Silent	SNP	C	C	A																															ggacagagggacctgcctgtCagcatcaacttctgggtgcc																								novel		C3N-01410_TP	C3N-01410_NB	C	C																c.2901C>A	p.=	p.V967V	ENST00000562522	25/31	132	109	23	176	176	0	strelka-varscan-mutect	ITGAX,synonymous_variant,p.=,ENST00000268296,NM_000887.4;ITGAX,synonymous_variant,p.=,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;	A	ENST00000562522	Transcript	synonymous_variant	2934/3990	2901/3510	967/1169	V	gtC/gtA		1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1			25/31		Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,Superfamily_domains:SSF69179																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	75	31379789	31379789	C	A	1	0	0	0	0	0	0	0	1	7796	813	29	2		2	ITGAX	16	31379789	Silent	SNP	C	C3N-01410_TP	1	31379789	58958556	212	24606	513	2									
CES2	0	.	GRCh38	chr16	66938114	66938114	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccatgtgaagggcgccAatgccggggtccaaaccttc	8	9	12	12	2	0	1	0	1	0	0	3	1	2	1	5	3	2	0	5	3	3	2	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.346A>T	p.Asn116Tyr	p.N116Y	ENST00000317091	2/12	292	155	137	247	247	0	strelka-varscan-mutect	CES2,missense_variant,p.Asn116Tyr,ENST00000317091,NM_003869.5;CES2,missense_variant,p.Asn116Tyr,ENST00000417689,NM_198061.2;CES2,intron_variant,,ENST00000561697,;CES2,downstream_gene_variant,,ENST00000566182,;CES2,upstream_gene_variant,,ENST00000564420,;FAM96B,upstream_gene_variant,,ENST00000567511,;FAM96B,upstream_gene_variant,,ENST00000422424,NM_016062.3;FAM96B,upstream_gene_variant,,ENST00000568572,;RP11-361L15.4,upstream_gene_variant,,ENST00000566869,;CES2,3_prime_UTR_variant,,ENST00000568470,;CES2,3_prime_UTR_variant,,ENST00000570032,;CES2,non_coding_transcript_exon_variant,,ENST00000566359,;CES2,upstream_gene_variant,,ENST00000568347,;FAM96B,upstream_gene_variant,,ENST00000563490,;FAM96B,upstream_gene_variant,,ENST00000562362,;FAM96B,upstream_gene_variant,,ENST00000569299,;CES2,upstream_gene_variant,,ENST00000561843,;CES2,upstream_gene_variant,,ENST00000567128,;CES2,upstream_gene_variant,,ENST00000563988,;	T	ENST00000317091	Transcript	missense_variant	1330/3927	346/1872	116/623	N/Y	Aat/Tat		1		1	CES2	HGNC	HGNC:1864	protein_coding	YES	CCDS10825.1	ENSP00000317842		A0A024R6X1	UPI0000074733	NM_003869.5	deleterious(0)		2/12		hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF149,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	66938114	66938114	A	T	1	0	0	0	0	1	0	0	0	3002	130	5	4		4	CES2	16	66938114	Missense_Mutation	SNP	A	C3N-01410_TP	35558325	66938114	23400231	213	24607											
MTSS1L	0	.	GRCh38	chr16	70674463	70674463	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaggtggaactgggtgagTatgtttgggcacccccaggc	8	8	16	9	0	0	1	0	1	0	0	0	3	0	2	2	5	1	3	2	5	2	2	rs748292625		C3N-01410_TP	C3N-01410_NB	T	T																c.896A>G	p.Tyr299Cys	p.Y299C	ENST00000338779	11/15	290	199	91	322	321	1	strelka-varscan-mutect	MTSS1L,missense_variant,p.Tyr299Cys,ENST00000338779,NM_138383.2;MTSS1L,missense_variant,p.Tyr298Cys,ENST00000616026,;MTSS1L,intron_variant,,ENST00000562883,;MTSS1L,downstream_gene_variant,,ENST00000576338,;	C	ENST00000338779	Transcript	missense_variant	1171/4992	896/2244	299/747	Y/C	tAc/tGc	rs748292625,COSM3273347	1		-1	MTSS1L	HGNC	HGNC:25094	protein_coding	YES	CCDS32476.1	ENSP00000341171	Q765P7		UPI00001D627C	NM_138383.2	tolerated(0.14)		11/15		hmmpanther:PTHR15708											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs748292625	.												C	3	2	75	70674463	70674463	T	C	1	0	0	0	0	1	0	0	0	9960	1638	57	5		5	MTSS1L	16	70674463	Missense_Mutation	SNP	T	C3N-01410_TP	3736349	70674463	19663882	214	24608											
PIEZO1	0	.	GRCh38	chr16	88733987	88733987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcctcctcctcctcctcctCctgctgctgctgctgatgct	1	14	6	20	0	0	1	0	1	0	0	7	1	7	1	7	0	5	5	7	0	0	0	rs202139830		C3N-01410_TP	C3N-01410_NB	C	C																c.2248G>C	p.Glu750Gln	p.E750Q	ENST00000301015	17/51	52	48	4	52	52	0	strelka-mutect	PIEZO1,missense_variant,p.Glu750Gln,ENST00000301015,NM_001142864.2;RP5-1142A6.2,intron_variant,,ENST00000440406,;RP5-1142A6.2,upstream_gene_variant,,ENST00000567968,;PIEZO1,upstream_gene_variant,,ENST00000490756,;	G	ENST00000301015	Transcript	missense_variant	2495/8072	2248/7566	750/2521	E/Q	Gag/Cag	rs202139830,COSM4908184	1		-1	PIEZO1	HGNC	HGNC:28993	protein_coding	YES	CCDS54058.1	ENSP00000301015	Q92508		UPI0001B300F3	NM_001142864.2	tolerated(0.45)		17/51		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs202139830	.												G	3	3	75	88733987	88733987	C	G	1	0	0	0	0	1	0	0	0	11974	864	30	4		4	PIEZO1	16	88733987	Missense_Mutation	SNP	C	C3N-01410_TP	18059524	88733987	1604358	215	24609											
DPEP1	0	.	GRCh38	chr16	89637866	89637866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctggaggacgtctccaaGtatccagacctgatcgctga	9	8	13	11	2	1	3	0	2	1	1	4	5	2	5	3	3	0	3	3	3	2	1	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.960G>T	p.Lys320Asn	p.K320N	ENST00000393092	10/11	191	119	72	156	156	0	strelka-varscan-mutect	DPEP1,missense_variant,p.Lys320Asn,ENST00000393092,NM_004413.3;DPEP1,missense_variant,p.Lys320Asn,ENST00000421184,NM_001128141.2;DPEP1,missense_variant,p.Lys320Asn,ENST00000261615,;DPEP1,downstream_gene_variant,,ENST00000570029,;DPEP1,downstream_gene_variant,,ENST00000568281,;DPEP1,non_coding_transcript_exon_variant,,ENST00000564281,;DPEP1,non_coding_transcript_exon_variant,,ENST00000564645,;DPEP1,downstream_gene_variant,,ENST00000565249,;DPEP1,downstream_gene_variant,,ENST00000561484,;	T	ENST00000393092	Transcript	missense_variant	1251/1734	960/1236	320/411	K/N	aaG/aaT		1		1	DPEP1	HGNC	HGNC:3002	protein_coding	YES	CCDS10982.1	ENSP00000376807	P16444	A0A140VJI3	UPI000006DF95	NM_004413.3	deleterious(0.01)		10/11		PROSITE_profiles:PS51365,hmmpanther:PTHR10443,hmmpanther:PTHR10443:SF17,Gene3D:3.20.20.140,Pfam_domain:PF01244,Superfamily_domains:SSF51556																	MODERATE	1	SNV	1			1										PASS		rs1424925632	.												T	3	4	75	89637866	89637866	G	T	1	0	0	0	0	1	0	0	0	4527	1020	36	2		2	DPEP1	16	89637866	Missense_Mutation	SNP	G	C3N-01410_TP	903879	89637866	700479	216	24610											
ANKFY1	0	.	GRCh38	chr17	4197376	4197376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgctccccagcttacctcCccttgctgtcctgcatgttg	3	14	7	17	0	1	0	0	0	1	0	4	0	4	0	6	0	5	5	6	0	1	3	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1226G>T	p.Gly409Val	p.G409V	ENST00000570535	8/25	249	185	64	165	163	2	strelka-varscan-mutect	ANKFY1,missense_variant,p.Gly367Val,ENST00000341657,;ANKFY1,missense_variant,p.Gly409Val,ENST00000570535,NM_001257999.1;ANKFY1,missense_variant,p.Gly367Val,ENST00000574367,NM_016376.3;ANKFY1,3_prime_UTR_variant,,ENST00000572412,;ANKFY1,non_coding_transcript_exon_variant,,ENST00000570934,;ANKFY1,non_coding_transcript_exon_variant,,ENST00000573250,;	A	ENST00000570535	Transcript	missense_variant	1343/6458	1226/3636	409/1211	G/V	gGg/gTg		1		-1	ANKFY1	HGNC	HGNC:20763	protein_coding	YES	CCDS58502.1	ENSP00000459943	Q9P2R3		UPI00003FECB0	NM_001257999.1	deleterious(0)		8/25		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24189,hmmpanther:PTHR24189:SF34,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	4197376	4197376	C	A	1	0	0	0	0	1	0	0	0	728	637	22	2		2	ANKFY1	17	4197376	Missense_Mutation	SNP	C	C3N-01410_TP		4197376	79060065	217	24611											
ZNF594	0	.	GRCh38	chr17	5182551	5182551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaccacactgattacacCaataagctttcgcttcctgg	10	11	5	15	1	0	1	0	1	0	0	2	1	1	1	4	1	3	2	4	1	4	5	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1706G>T	p.Trp569Leu	p.W569L	ENST00000399604	1/1	426	303	123	379	379	0	strelka-varscan-mutect	ZNF594,missense_variant,p.Trp569Leu,ENST00000399604,;ZNF594,missense_variant,p.Trp569Leu,ENST00000575779,NM_032530.1;ZNF594,downstream_gene_variant,,ENST00000576772,;	A	ENST00000399604	Transcript	missense_variant	1847/4862	1706/2424	569/807	W/L	tGg/tTg		1		-1	ZNF594	HGNC	HGNC:29392	protein_coding	YES	CCDS42241.1	ENSP00000382513	Q96JF6		UPI00001C1FDF		tolerated(0.07)		1/1		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF155,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV				1										PASS		rs1471951438	.												A	3	1	75	5182551	5182551	C	A	1	0	0	0	0	1	0	0	0	18599	595	21	2		2	ZNF594	17	5182551	Missense_Mutation	SNP	C	C3N-01410_TP	985175	5182551	78074890	218	24612											
DHRS7C	0	.	GRCh38	chr17	9771556	9771556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacggcgaaaaagaactccgGgaagaaggtgcggacgtaca	15	3	14	9	5	0	2	0	0	0	2	1	5	1	4	1	4	3	1	1	4	6	1	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.871C>A	p.Pro291Thr	p.P291T	ENST00000330255	6/6	32	23	9	29	29	0	strelka-varscan-mutect	DHRS7C,missense_variant,p.Pro291Thr,ENST00000330255,NM_001220493.1;DHRS7C,missense_variant,p.Pro290Thr,ENST00000571134,NM_001105571.2;DHRS7C,missense_variant,p.Pro111Thr,ENST00000571771,;RP11-477N12.6,intron_variant,,ENST00000634974,;	T	ENST00000330255	Transcript	missense_variant	884/1006	871/939	291/312	P/T	Ccg/Acg		1		-1	DHRS7C	HGNC	HGNC:32423	protein_coding	YES	CCDS56020.1	ENSP00000327975	A6NNS2		UPI000178DECB	NM_001220493.1	deleterious(0)		6/6																			MODERATE	1	SNV	1			1										PASS		rs957007375	.												T	3	4	75	9771556	9771556	G	T	1	0	0	0	0	1	0	0	0	4301	1232	43	2		2	DHRS7C	17	9771556	Missense_Mutation	SNP	G	C3N-01410_TP	4589005	9771556	73485885	219	24613											
TLCD1	0	.	GRCh38	chr17	28724650	28724651	+	Frame_Shift_Ins	INS	-	-	C																															agcaggaaggtgcccagggtINScctctggttcacataacgca																								novel		C3N-01410_TP	C3N-01410_NB	-	-																c.603dupG	p.Thr202AspfsTer28	p.T202Dfs*28	ENST00000292090	4/4	287	235	52	346	346	0	sindel-varindel-pindel	TLCD1,frameshift_variant,p.Thr202AspfsTer28,ENST00000292090,NM_138463.3;TLCD1,frameshift_variant,p.Thr155AspfsTer28,ENST00000394933,NM_001160407.1;TLCD1,frameshift_variant,p.Thr131AspfsTer?,ENST00000580518,;TLCD1,frameshift_variant,p.Pro40ThrfsTer47,ENST00000581236,;NEK8,upstream_gene_variant,,ENST00000268766,NM_178170.2;RPL23A,downstream_gene_variant,,ENST00000422514,NM_000984.5;RPL23A,downstream_gene_variant,,ENST00000394938,;NEK8,upstream_gene_variant,,ENST00000579060,;NEK8,upstream_gene_variant,,ENST00000579671,;RPL23A,downstream_gene_variant,,ENST00000472628,;RPL23A,downstream_gene_variant,,ENST00000496182,;RPL23A,downstream_gene_variant,,ENST00000578181,;RPL23A,downstream_gene_variant,,ENST00000355731,;RPL23A,downstream_gene_variant,,ENST00000394935,;SNORD4B,downstream_gene_variant,,ENST00000459083,;SNORD4A,downstream_gene_variant,,ENST00000459174,;SNORD42B,downstream_gene_variant,,ENST00000458893,;SNORD42A,downstream_gene_variant,,ENST00000459584,;AC010761.8,upstream_gene_variant,,ENST00000582718,;AC010761.14,upstream_gene_variant,,ENST00000587898,;NEK8,upstream_gene_variant,,ENST00000593261,;NEK8,upstream_gene_variant,,ENST00000543014,;NEK8,upstream_gene_variant,,ENST00000584342,;RPL23A,downstream_gene_variant,,ENST00000582736,;NEK8,upstream_gene_variant,,ENST00000581000,;RPL23A,downstream_gene_variant,,ENST00000580755,;	C	ENST00000292090	Transcript	frameshift_variant	714-715/1017	603-604/744	201-202/247	-/X	-/G		1		-1	TLCD1	HGNC	HGNC:25177	protein_coding	YES	CCDS11242.1	ENSP00000292090	Q96CP7		UPI000006DF3D	NM_138463.3			4/4		PROSITE_profiles:PS50922,hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF5,Pfam_domain:PF03798,SMART_domains:SM00724																	HIGH	1	insertion	1			1										PASS		.	.												C	7	5	75	28724650	28724650	-	C	1	0	1	1	0	0	0	0	0	16380	1667	58	0		0	TLCD1	17	28724650	Frame_Shift_Ins	INS	-	C3N-01410_TP	18953094	28724650	54532791	220	24614											
TAOK1	0	.	GRCh38	chr17	29467211	29467211	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttatagtggaaagcagtctActgaggtaggttaaatatgt	13	13	11	4	0	1	1	0	1	1	0	1	2	1	2	0	3	2	3	0	3	8	6	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.199A>T	p.Thr67Ser	p.T67S	ENST00000261716	3/20	88	49	39	123	121	2	strelka-varscan-mutect	TAOK1,missense_variant,p.Thr67Ser,ENST00000261716,NM_020791.2;TAOK1,missense_variant,p.Thr67Ser,ENST00000536202,NM_025142.1;TAOK1,missense_variant,p.Thr67Ser,ENST00000583121,;	T	ENST00000261716	Transcript	missense_variant	718/12407	199/3006	67/1001	T/S	Act/Tct		1		1	TAOK1	HGNC	HGNC:29259	protein_coding	YES	CCDS32601.1	ENSP00000261716	Q7L7X3	A0A024QZ70	UPI000004A033	NM_020791.2	tolerated(0.38)		3/20		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF369,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	29467211	29467211	A	T	1	0	0	0	0	1	0	0	0	15946	405	14	4		4	TAOK1	17	29467211	Missense_Mutation	SNP	A	C3N-01410_TP	742561	29467211	53790230	221	24615											
PSME3	0	.	GRCh38	chr17	42841530	42841530	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgatcctgaaaaatatCgagaagatcaaacggccccg	16	6	9	10	3	1	4	1	2	0	2	3	6	2	4	3	1	1	0	3	1	5	1	rs202070240		C3N-01410_TP	C3N-01410_NB	C	C																c.756C>A	p.=	p.I252I	ENST00000293362	11/11	112	98	14	117	116	1	strelka-varscan-mutect	PSME3,synonymous_variant,p.=,ENST00000541124,;PSME3,synonymous_variant,p.=,ENST00000622892,;PSME3,synonymous_variant,p.=,ENST00000293362,NM_176863.2;PSME3,synonymous_variant,p.=,ENST00000545225,;PSME3,synonymous_variant,p.=,ENST00000441946,NM_001267045.1;PSME3,synonymous_variant,p.=,ENST00000590720,NM_005789.3;PSME3,synonymous_variant,p.=,ENST00000592169,;AOC2,upstream_gene_variant,,ENST00000253799,NM_009590.2;AOC2,upstream_gene_variant,,ENST00000452774,NM_001158.3;PSME3,downstream_gene_variant,,ENST00000585805,;PSME3,downstream_gene_variant,,ENST00000591152,;PSME3,downstream_gene_variant,,ENST00000589469,;PSME3,downstream_gene_variant,,ENST00000586114,;PSME3,3_prime_UTR_variant,,ENST00000543428,;PSME3,downstream_gene_variant,,ENST00000586312,;PSME3,downstream_gene_variant,,ENST00000593111,;PSME3,downstream_gene_variant,,ENST00000591722,;	A	ENST00000293362	Transcript	synonymous_variant	917/3144	756/804	252/267	I	atC/atA	rs202070240,COSM3189638	1		1	PSME3	HGNC	HGNC:9570	protein_coding	YES	CCDS11442.1	ENSP00000293362	P61289		UPI000002B1BA	NM_176863.2			11/11		Gene3D:1.20.120.180,Pfam_domain:PF02252,hmmpanther:PTHR10660,hmmpanther:PTHR10660:SF4,Superfamily_domains:SSF47216											0,1						LOW	1	SNV	1		0,1	1										PASS		rs202070240	.												A	2	1	75	42841530	42841530	C	A	1	0	0	0	0	0	0	0	1	12859	874	31	1		1	PSME3	17	42841530	Silent	SNP	C	C3N-01410_TP	13374319	42841530	40415911	222	24616											
DBF4B	0	.	GRCh38	chr17	44750863	44750863	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactcctttgccccggcGgacattcctgttaagggccc	8	9	10	14	2	0	0	0	0	0	0	2	2	2	1	5	3	2	1	5	3	3	3			C3N-01410_TP	C3N-01410_NB	G	G																c.1458G>T	p.=	p.A486A	ENST00000315005	14/14	423	365	58	361	361	0	strelka-varscan-mutect	DBF4B,synonymous_variant,p.=,ENST00000315005,NM_145663.2;DBF4B,intron_variant,,ENST00000393547,NM_025104.3;DBF4B,downstream_gene_variant,,ENST00000526924,;DBF4B,downstream_gene_variant,,ENST00000527862,;	T	ENST00000315005	Transcript	synonymous_variant	1596/2997	1458/1848	486/615	A	gcG/gcT	COSM5123012	1		1	DBF4B	HGNC	HGNC:17883	protein_coding	YES	CCDS11485.1	ENSP00000323663	Q8NFT6		UPI00000473C7	NM_145663.2			14/14		hmmpanther:PTHR15375:SF24,hmmpanther:PTHR15375											1						LOW	1	SNV	1		1	1										PASS		rs1156354839	.												T	2	4	75	44750863	44750863	G	T	1	0	0	0	0	0	0	0	1	4049	1103	39	1		1	DBF4B	17	44750863	Silent	SNP	G	C3N-01410_TP	1909333	44750863	38506578	223	24617											
BAHCC1	0	.	GRCh38	chr17	81461425	81461425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccggcccttgtgggcaaGgacaagaaggggcgggcacc	9	3	16	13	2	0	1	0	0	0	1	0	2	0	2	3	6	0	2	3	6	3	1	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.6855G>T	p.Lys2285Asn	p.K2285N	ENST00000584436	27/29	53	36	17	32	32	0	strelka-varscan-mutect	BAHCC1,missense_variant,p.Lys2285Asn,ENST00000584436,NM_001291324.1;BAHCC1,missense_variant,p.Lys2254Asn,ENST00000307745,;RP11-1055B8.8,intron_variant,,ENST00000572590,;BAHCC1,downstream_gene_variant,,ENST00000578541,;BAHCC1,downstream_gene_variant,,ENST00000584330,;BAHCC1,upstream_gene_variant,,ENST00000582709,;	T	ENST00000584436	Transcript	missense_variant	7222/10801	6855/7920	2285/2639	K/N	aaG/aaT		1		1	BAHCC1	HGNC	HGNC:29279	protein_coding	YES	CCDS74173.1	ENSP00000462154		A0A075B747	UPI0003EAE637	NM_001291324.1	deleterious(0)		27/29		hmmpanther:PTHR12505:SF22,hmmpanther:PTHR12505																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	75	81461425	81461425	G	T	1	0	0	0	0	1	0	0	0	1451	991	35	2		2	BAHCC1	17	81461425	Missense_Mutation	SNP	G	C3N-01410_TP	36710562	81461425	1796016	224	24618											
PIEZO2	0	.	GRCh38	chr18	10800436	10800436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcttgggtggatggtgtGgtaatccacggggttgccgt	5	11	18	7	2	0	0	0	0	0	0	1	1	1	1	2	7	1	3	2	7	1	3	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1279C>A	p.His427Asn	p.H427N	ENST00000503781	11/52	131	102	29	144	144	0	strelka-varscan-mutect	PIEZO2,missense_variant,p.His376Asn,ENST00000383408,;PIEZO2,missense_variant,p.His427Asn,ENST00000302079,;PIEZO2,missense_variant,p.His427Asn,ENST00000580640,;PIEZO2,missense_variant,p.His427Asn,ENST00000503781,NM_022068.3;PIEZO2,missense_variant,p.His137Asn,ENST00000579112,;PIEZO2,missense_variant,p.His427Asn,ENST00000582913,;	T	ENST00000503781	Transcript	missense_variant	1279/8259	1279/8259	427/2752	H/N	Cac/Aac		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3	tolerated(0.17)		11/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	10800436	10800436	G	T	1	0	0	0	0	1	0	0	0	11975	1348	47	2		2	PIEZO2	18	10800436	Missense_Mutation	SNP	G	C3N-01410_TP		10800436	69572849	225	24619											
GREB1L	0	.	GRCh38	chr18	21496664	21496664	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatcgacctggagcggccCcagagcaacagcagcgctgt	9	5	12	15	3	1	1	1	0	0	1	2	3	1	2	3	2	5	3	3	2	1	0	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.3357C>A	p.=	p.P1119P	ENST00000580732	21/33	200	160	40	211	211	0	strelka-varscan-mutect	GREB1L,synonymous_variant,p.=,ENST00000580732,;GREB1L,synonymous_variant,p.=,ENST00000424526,NM_001142966.1;GREB1L,synonymous_variant,p.=,ENST00000269218,;GREB1L,non_coding_transcript_exon_variant,,ENST00000578955,;	A	ENST00000580732	Transcript	synonymous_variant	3738/8749	3357/5772	1119/1923	P	ccC/ccA		1		1	GREB1L	HGNC	HGNC:31042	protein_coding	YES	CCDS45836.1	ENSP00000464162	Q9C091		UPI0001642876				21/33		Pfam_domain:PF15782,hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF12																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	75	21496664	21496664	C	A	1	0	0	0	0	0	0	0	1	6640	610	22	2		2	GREB1L	18	21496664	Silent	SNP	C	C3N-01410_TP	10696228	21496664	58876621	226	24620											
DSC1	0	.	GRCh38	chr18	31134613	31134613	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttttactggcagaattaTccagaaagaattgaaaaggt	16	12	9	4	0	0	4	0	1	0	3	1	4	1	4	1	2	1	2	1	2	7	5	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.1835A>T	p.Asp612Val	p.D612V	ENST00000257198	12/16	137	107	30	132	132	0	strelka-mutect	DSC1,missense_variant,p.Asp612Val,ENST00000257197,NM_004948.3;DSC1,missense_variant,p.Asp612Val,ENST00000257198,NM_024421.2;DSCAS,intron_variant,,ENST00000581836,;RP11-408H20.3,downstream_gene_variant,,ENST00000582307,;	A	ENST00000257198	Transcript	missense_variant	2097/4225	1835/2685	612/894	D/V	gAt/gTt		1		-1	DSC1	HGNC	HGNC:3035	protein_coding	YES	CCDS11894.1	ENSP00000257198	Q08554		UPI000006DF10	NM_024421.2	deleterious(0.03)		12/16		PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF8,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	2			1										PASS		rs1340530110	.												A	3	1	75	31134613	31134613	T	A	1	0	0	0	0	1	0	0	0	4586	1435	50	4		4	DSC1	18	31134613	Missense_Mutation	SNP	T	C3N-01410_TP	9637949	31134613	49238672	227	24621											
POLI	0	.	GRCh38	chr18	54282978	54282978	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagctcagttttggagAggataactcccctgtgatac	12	10	9	10	0	1	2	1	1	0	1	2	4	2	3	3	2	3	2	3	2	4	4	rs765990947		C3N-01410_TP	C3N-01410_NB	A	A																c.938A>T	p.Glu313Val	p.E313V	ENST00000579534	6/10	132	105	27	135	135	0	strelka-varscan-mutect	POLI,missense_variant,p.Glu313Val,ENST00000579534,NM_007195.2;POLI,missense_variant,p.Glu210Val,ENST00000579434,;POLI,missense_variant,p.Glu251Val,ENST00000217800,;POLI,missense_variant,p.Glu234Val,ENST00000406285,;POLI,missense_variant,p.Glu25Val,ENST00000579823,;POLI,downstream_gene_variant,,ENST00000583136,;POLI,downstream_gene_variant,,ENST00000577612,;POLI,downstream_gene_variant,,ENST00000580880,;POLI,upstream_gene_variant,,ENST00000582366,;POLI,downstream_gene_variant,,ENST00000580905,;POLI,missense_variant,p.Glu40Val,ENST00000585023,;POLI,missense_variant,p.Glu42Val,ENST00000581950,;POLI,downstream_gene_variant,,ENST00000577971,;POLI,upstream_gene_variant,,ENST00000577361,;POLI,upstream_gene_variant,,ENST00000583576,;	T	ENST00000579534	Transcript	missense_variant	1081/6133	938/2223	313/740	E/V	gAg/gTg	rs765990947	1		1	POLI	HGNC	HGNC:9182	protein_coding	YES	CCDS11954.2	ENSP00000462664	Q9UNA4		UPI00004DDD95	NM_007195.2	tolerated(0.19)		6/10		Gene3D:1.10.150.20,hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF10,Superfamily_domains:SSF56672																	MODERATE	1	SNV	1			1										PASS		rs765990947	.												T	3	4	75	54282978	54282978	A	T	1	0	0	0	0	1	0	0	0	12313	304	11	4		4	POLI	18	54282978	Missense_Mutation	SNP	A	C3N-01410_TP	23148365	54282978	26090307	228	24622											
FECH	0	.	GRCh38	chr18	57586608	57586608	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcagccatgtttgcgcCgagtgaacgcattgcctggg	6	8	15	12	4	0	1	0	1	0	0	0	2	0	1	4	2	4	3	4	2	1	2	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.13G>T	p.Gly5Cys	p.G5C	ENST00000382873	1/11	254	208	46	287	287	0	strelka-varscan-mutect	FECH,missense_variant,p.Gly5Cys,ENST00000262093,NM_000140.3;FECH,missense_variant,p.Gly5Cys,ENST00000382873,NM_001012515.2;FECH,missense_variant,p.Gly5Cys,ENST00000592699,;FECH,missense_variant,p.Gly5Cys,ENST00000585747,;FECH,5_prime_UTR_variant,,ENST00000591215,;RP11-706P11.2,downstream_gene_variant,,ENST00000611316,;FECH,non_coding_transcript_exon_variant,,ENST00000585699,;FECH,missense_variant,p.Gly5Cys,ENST00000585494,;FECH,non_coding_transcript_exon_variant,,ENST00000585878,;FECH,non_coding_transcript_exon_variant,,ENST00000592111,;	A	ENST00000382873	Transcript	missense_variant	47/2526	13/1290	5/429	G/C	Ggc/Tgc		1		-1	FECH	HGNC	HGNC:3647	protein_coding	YES	CCDS32836.1	ENSP00000372326	P22830		UPI00004E55EB	NM_001012515.2	deleterious_low_confidence(0)		1/11		hmmpanther:PTHR11108,hmmpanther:PTHR11108:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		rs1310448576	.												A	3	1	75	57586608	57586608	C	A	1	0	0	0	0	1	0	0	0	5671	652	23	1		1	FECH	18	57586608	Missense_Mutation	SNP	C	C3N-01410_TP	3303630	57586608	22786677	229	24623											
STK11	0	.	GRCh38	chr19	1218501	1218501	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacgaagagaagcagaaaatAtatcctttccggtgttggga	15	9	11	6	2	0	2	0	0	0	2	2	5	2	3	2	2	2	2	2	2	7	4			C3N-01410_TP	C3N-01410_NB	A	A																c.374+1A>G		p.X125_splice	ENST00000326873		195	139	56	215	215	0	strelka-varscan-mutect	STK11,splice_donor_variant,,ENST00000586243,;STK11,splice_donor_variant,,ENST00000326873,NM_000455.4;STK11,splice_donor_variant,,ENST00000585748,;STK11,intron_variant,,ENST00000585851,;STK11,upstream_gene_variant,,ENST00000585465,;STK11,splice_donor_variant,,ENST00000589152,;STK11,splice_donor_variant,,ENST00000586358,;STK11,splice_donor_variant,,ENST00000593219,;STK11,upstream_gene_variant,,ENST00000591133,;	G	ENST00000326873	Transcript	splice_donor_variant	-/2611	374/1302	125/433			CS021376	1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4				2/9																		HIGH	1	SNV	1		1	1										PASS		rs1131690951	.												G	5	3	75	1218501	1218501	A	G	1	0	0	0	0	0	0	1	0	15664	463	16	5		5	STK11	19	1218501	Splice_Site	SNP	A	C3N-01410_TP		1218501	57399115	230	24624											
PDE4A	0	.	GRCh38	chr19	10454864	10454864	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgtgagctcacacacctGtcagaaatgagcaggtccgg	12	6	11	12	2	2	3	2	2	0	1	3	3	3	3	3	2	3	2	3	2	2	0	rs749421091		C3N-01410_TP	C3N-01410_NB	G	G																c.819G>T	p.=	p.L273L	ENST00000380702	7/15	172	108	64	254	254	0	strelka-varscan-mutect	PDE4A,synonymous_variant,p.=,ENST00000380702,NM_001111307.1;PDE4A,synonymous_variant,p.=,ENST00000592685,NM_001243121.1;PDE4A,synonymous_variant,p.=,ENST00000293683,NM_001111308.1;PDE4A,synonymous_variant,p.=,ENST00000344979,NM_006202.2;PDE4A,synonymous_variant,p.=,ENST00000440014,NM_001111309.1;PDE4A,synonymous_variant,p.=,ENST00000591971,;PDE4A,synonymous_variant,p.=,ENST00000589073,;PDE4A,non_coding_transcript_exon_variant,,ENST00000586275,;PDE4A,upstream_gene_variant,,ENST00000590407,;	T	ENST00000380702	Transcript	synonymous_variant	929/4781	819/2661	273/886	L	ctG/ctT	rs749421091	1		1	PDE4A	HGNC	HGNC:8780	protein_coding	YES	CCDS45961.1	ENSP00000370078	P27815		UPI0000047003	NM_001111307.1			7/15		hmmpanther:PTHR11347:SF74,hmmpanther:PTHR11347																	LOW	1	SNV	1			1										PASS		rs749421091	.												T	2	4	75	10454864	10454864	G	T	1	0	0	0	0	0	0	0	1	11727	1364	48	2		2	PDE4A	19	10454864	Silent	SNP	G	C3N-01410_TP	9236363	10454864	48162752	231	24625											
PODNL1	0	.	GRCh38	chr19	13936040	13936040	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcgaaggcctcgtcaggCaggcctgggagagtaggggg	8	5	19	9	2	1	1	1	0	0	1	3	4	1	1	2	6	0	2	2	6	2	1	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.345G>T	p.=	p.L115L	ENST00000339560	4/8	96	58	38	122	122	0	strelka-varscan-mutect	PODNL1,synonymous_variant,p.=,ENST00000538517,NM_001146255.1;PODNL1,synonymous_variant,p.=,ENST00000339560,NM_024825.3;PODNL1,synonymous_variant,p.=,ENST00000538371,NM_001146254.1;PODNL1,intron_variant,,ENST00000254320,;PODNL1,intron_variant,,ENST00000586075,;PODNL1,intron_variant,,ENST00000585607,;PODNL1,upstream_gene_variant,,ENST00000587954,;PODNL1,upstream_gene_variant,,ENST00000588872,;PODNL1,downstream_gene_variant,,ENST00000587458,;PODNL1,upstream_gene_variant,,ENST00000588764,;PODNL1,upstream_gene_variant,,ENST00000591353,;PODNL1,intron_variant,,ENST00000587288,;	A	ENST00000339560	Transcript	synonymous_variant	619/2165	345/1539	115/512	L	ctG/ctT		1		-1	PODNL1	HGNC	HGNC:26275	protein_coding	YES	CCDS12300.1	ENSP00000345175	Q6PEZ8		UPI0000366D47	NM_024825.3			4/8		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF59,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52047																	LOW	1	SNV	1			1										PASS		rs1406827267	.												A	2	1	75	13936040	13936040	C	A	1	0	0	0	0	0	0	0	1	12288	724	25	2		2	PODNL1	19	13936040	Silent	SNP	C	C3N-01410_TP	3481176	13936040	44681576	232	24626											
CYP4F12	0	.	GRCh38	chr19	15683666	15683666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacgctgtcatccgggagcGgcgtcgcaccctccccactc	6	6	11	18	5	1	1	1	0	0	1	5	2	3	2	4	2	1	2	4	2	0	0	rs781561176		C3N-01410_TP	C3N-01410_NB	G	G																c.821G>T	p.Arg274Leu	p.R274L	ENST00000550308	7/13	74	48	26	120	120	0	strelka-varscan-mutect	CYP4F12,missense_variant,p.Arg274Leu,ENST00000550308,NM_023944.3;CYP4F12,missense_variant,p.Arg274Leu,ENST00000324632,;CYP4F12,downstream_gene_variant,,ENST00000551607,;CYP4F12,3_prime_UTR_variant,,ENST00000517734,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000546608,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000550627,;CYP4F12,non_coding_transcript_exon_variant,,ENST00000518629,;CYP4F12,downstream_gene_variant,,ENST00000430608,;CYP4F12,downstream_gene_variant,,ENST00000451750,;CYP4F12,downstream_gene_variant,,ENST00000546792,;CYP4F12,downstream_gene_variant,,ENST00000548237,;CYP4F12,downstream_gene_variant,,ENST00000548501,;CYP4F12,downstream_gene_variant,,ENST00000547332,;CYP4F12,downstream_gene_variant,,ENST00000547471,;CYP4F12,downstream_gene_variant,,ENST00000549622,;CYP4F12,downstream_gene_variant,,ENST00000548435,;	T	ENST00000550308	Transcript	missense_variant	1201/2044	821/1575	274/524	R/L	cGg/cTg	rs781561176,COSM4879367	1		1	CYP4F12	HGNC	HGNC:18857	protein_coding	YES	CCDS42517.1	ENSP00000448998		A0A0A0MR49	UPI00020B9EFD	NM_023944.3	deleterious(0)		7/13		hmmpanther:PTHR24291:SF27,hmmpanther:PTHR24291,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs781561176	.												T	3	4	75	15683666	15683666	G	T	1	0	0	0	0	1	0	0	0	3990	1116	39	1		1	CYP4F12	19	15683666	Missense_Mutation	SNP	G	C3N-01410_TP	1747626	15683666	42933950	233	24627											
ZNF257	0	.	GRCh38	chr19	22088396	22088396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttaaccagtcctcagctCttactcgacataagatgact	11	12	5	13	1	2	2	1	1	1	1	4	3	3	2	3	0	3	1	3	0	3	4			C3N-01410_TP	C3N-01410_NB	C	C																c.646C>T	p.Leu216Phe	p.L216F	ENST00000594947	4/4	124	99	25	117	117	0	strelka-varscan-mutect	ZNF257,missense_variant,p.Leu216Phe,ENST00000594947,NM_033468.2;ZNF257,3_prime_UTR_variant,,ENST00000600162,;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,3_prime_UTR_variant,,ENST00000435820,NM_001316996.1;	T	ENST00000594947	Transcript	missense_variant	790/3874	646/1692	216/563	L/F	Ctt/Ttt	COSM4503699	1		1	ZNF257	HGNC	HGNC:13498	protein_coding	YES	CCDS46030.1	ENSP00000470209	Q9Y2Q1		UPI0000E045CA	NM_033468.2	tolerated(0.16)		4/4		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	4		1	1										PASS		.	.												T	3	4	75	22088396	22088396	C	T	1	0	0	0	0	1	0	0	0	18376	913	32	3		3	ZNF257	19	22088396	Missense_Mutation	SNP	C	C3N-01410_TP	6404730	22088396	36529220	234	24628											
ZNF254	0	.	GRCh38	chr19	24126399	24126399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtgtggatgagtataaGgtgaacaaagaaggttataa	19	9	12	1	0	0	3	0	2	0	1	0	4	0	4	0	3	1	2	0	3	9	4	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.399G>T	p.Lys133Asn	p.K133N	ENST00000357002	4/4	74	40	34	85	85	0	strelka-varscan-mutect	ZNF254,missense_variant,p.Lys92Asn,ENST00000613065,NM_001278677.1,NM_001278661.1,NM_001278662.1;ZNF254,missense_variant,p.Lys60Asn,ENST00000611359,NM_001278664.1;ZNF254,missense_variant,p.Lys133Asn,ENST00000357002,NM_203282.3;ZNF254,missense_variant,p.Lys48Asn,ENST00000616028,NM_001278663.1,NM_001278678.1;ZNF254,3_prime_UTR_variant,,ENST00000594886,;ZNF254,downstream_gene_variant,,ENST00000595187,;	T	ENST00000357002	Transcript	missense_variant	514/3967	399/1980	133/659	K/N	aaG/aaT		1		1	ZNF254	HGNC	HGNC:13047	protein_coding	YES	CCDS32983.1	ENSP00000349494	O75437		UPI0000366DB6	NM_203282.3	tolerated(0.09)		4/4																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	24126399	24126399	G	T	1	0	0	0	0	1	0	0	0	18374	991	35	2		2	ZNF254	19	24126399	Missense_Mutation	SNP	G	C3N-01410_TP	2038003	24126399	34491217	235	24629											
PSG5	0	.	GRCh38	chr19	43186357	43186357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcacctgtgagcaggagccCcttccaggtgatgtgctgtg	6	10	13	12	0	1	2	1	2	0	0	2	3	2	3	4	2	3	2	4	2	0	1			C3N-01410_TP	C3N-01410_NB	C	C																c.49G>T	p.Gly17Trp	p.G17W	ENST00000366175	1/6	188	159	29	226	226	0	strelka-varscan-mutect	PSG5,missense_variant,p.Gly17Trp,ENST00000404580,;PSG5,missense_variant,p.Gly17Trp,ENST00000599812,;PSG5,missense_variant,p.Gly17Trp,ENST00000366175,;PSG5,missense_variant,p.Gly17Trp,ENST00000342951,NM_001130014.1,NM_002781.3;PSG5,missense_variant,p.Gly17Trp,ENST00000407356,;PSG5,missense_variant,p.Gly17Trp,ENST00000407568,;PSG5,non_coding_transcript_exon_variant,,ENST00000401992,;PSG5,upstream_gene_variant,,ENST00000489220,;PSG5,non_coding_transcript_exon_variant,,ENST00000600817,;	A	ENST00000366175	Transcript	missense_variant	180/1766	49/1008	17/335	G/W	Ggg/Tgg	COSM3535173	1		-1	PSG5	HGNC	HGNC:9522	protein_coding	YES	CCDS12617.1	ENSP00000382334	Q15238	A0A024R0S1	UPI000013C7B9		deleterious(0)		1/6		Cleavage_site_(Signalp):SignalP-noTM											1						MODERATE	1	SNV	5		1	1										PASS		rs951631742	.												A	3	1	75	43186357	43186357	C	A	1	0	0	0	0	1	0	0	0	12809	623	22	2		2	PSG5	19	43186357	Missense_Mutation	SNP	C	C3N-01410_TP	19059958	43186357	15431259	236	24630											
EML2	0	.	GRCh38	chr19	45634470	45634470	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctcggccacggtagccatAgctggagccacccaggggct	7	6	14	14	2	1	0	0	0	1	0	2	1	1	1	4	5	3	3	4	5	2	2	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.784T>C	p.Tyr262His	p.Y262H	ENST00000587152	7/22	155	132	23	180	179	1	strelka-varscan-mutect	EML2,missense_variant,p.Tyr208His,ENST00000536630,NM_001193269.1;EML2,missense_variant,p.Tyr262His,ENST00000587152,NM_001193268.1;EML2,missense_variant,p.Tyr61His,ENST00000589876,;EML2,missense_variant,p.Tyr61His,ENST00000245925,NM_012155.2;EML2,missense_variant,p.Tyr39His,ENST00000586770,;EML2,missense_variant,p.Tyr39His,ENST00000593255,;EML2,missense_variant,p.Tyr39His,ENST00000590018,;EML2,missense_variant,p.Tyr39His,ENST00000591721,;EML2,missense_variant,p.Tyr39His,ENST00000590043,;EML2,upstream_gene_variant,,ENST00000588496,;EML2,upstream_gene_variant,,ENST00000588272,;EML2,downstream_gene_variant,,ENST00000362196,;EML2,upstream_gene_variant,,ENST00000586902,;EML2,upstream_gene_variant,,ENST00000590580,;EML2,missense_variant,p.Tyr219His,ENST00000399594,;EML2,missense_variant,p.Tyr61His,ENST00000588308,;EML2,splice_region_variant,,ENST00000588000,;EML2,splice_region_variant,,ENST00000588610,;EML2,splice_region_variant,,ENST00000588889,;EML2,non_coding_transcript_exon_variant,,ENST00000587804,;EML2,intron_variant,,ENST00000586195,;EML2,upstream_gene_variant,,ENST00000592853,;	G	ENST00000587152	Transcript	missense_variant,splice_region_variant	969/2763	784/2553	262/850	Y/H	Tat/Cat		1		-1	EML2	HGNC	HGNC:18035	protein_coding	YES	CCDS59399.1	ENSP00000468312	O95834		UPI0001DD21BF	NM_001193268.1	deleterious(0.01)		7/22		Pfam_domain:PF03451,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF32,Superfamily_domains:SSF50998																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	75	45634470	45634470	A	G	1	0	0	0	0	1	0	0	0	4940	434	15	5		5	EML2	19	45634470	Missense_Mutation	SNP	A	C3N-01410_TP	2448113	45634470	12983146	237	24631											
AP2A1	0	.	GRCh38	chr19	49795630	49795630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgctcttccccgccagAtcgtctcctctgcctccacc	3	13	5	20	2	4	1	0	0	4	1	8	1	6	1	7	0	2	1	7	0	0	3	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.706A>G	p.Ile236Val	p.I236V	ENST00000359032	7/24	105	48	57	108	108	0	strelka-varscan-mutect	AP2A1,missense_variant,p.Ile236Val,ENST00000354293,NM_130787.2;AP2A1,missense_variant,p.Ile236Val,ENST00000359032,NM_014203.2;MIR6799,downstream_gene_variant,,ENST00000620297,;AP2A1,splice_region_variant,,ENST00000600199,;AP2A1,splice_region_variant,,ENST00000597774,;	G	ENST00000359032	Transcript	missense_variant,splice_region_variant	706/3286	706/2934	236/977	I/V	Atc/Gtc		1		1	AP2A1	HGNC	HGNC:561	protein_coding	YES	CCDS46148.1	ENSP00000351926	O95782		UPI0000167B50	NM_014203.2	tolerated(0.1)		7/24		hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF19,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037091,Pfam_domain:PF01602,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	75	49795630	49795630	A	G	1	0	0	0	0	1	0	0	0	855	347	12	5		5	AP2A1	19	49795630	Missense_Mutation	SNP	A	C3N-01410_TP	4161160	49795630	8821986	238	24632											
CTU1	0	.	GRCh38	chr19	51104252	51104252	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcagctcccagcgcgcCgcctggcgccgcacggccgc	4	2	15	20	8	0	0	0	0	0	0	1	0	1	0	5	3	3	3	5	3	0	0	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.318G>T	p.=	p.A106A	ENST00000421832	2/3	233	131	102	205	205	0	strelka-varscan-mutect	CTU1,synonymous_variant,p.=,ENST00000421832,NM_145232.3;	A	ENST00000421832	Transcript	synonymous_variant	363/2087	318/1047	106/348	A	gcG/gcT		1		-1	CTU1	HGNC	HGNC:29590	protein_coding	YES	CCDS12824.1	ENSP00000390011	Q7Z7A3		UPI000013D897	NM_145232.3			2/3		Low_complexity_(Seg):seg,HAMAP:MF_03053,hmmpanther:PTHR11807,hmmpanther:PTHR11807:SF12,PIRSF_domain:PIRSF004976,Pfam_domain:PF01171,Gene3D:3.40.50.620,Superfamily_domains:SSF52402																	LOW	1	SNV	2			1										PASS		rs1377150979	.												A	2	1	75	51104252	51104252	C	A	1	0	0	0	0	0	0	0	1	3856	639	23	1		1	CTU1	19	51104252	Silent	SNP	C	C3N-01410_TP	1308622	51104252	7513364	239	24633											
ZNF578	0	.	GRCh38	chr19	52511137	52511137	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaaggaaacatcagataatCcatttaggagaaaaacaata	21	8	7	5	0	1	2	1	0	0	2	2	4	2	3	1	2	2	1	1	2	8	5	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.756C>A	p.=	p.I252I	ENST00000421239	6/6	206	104	102	183	183	0	strelka-varscan-mutect	ZNF578,synonymous_variant,p.=,ENST00000421239,NM_001099694.1;ZNF578,synonymous_variant,p.=,ENST00000601120,;CTD-3099C6.5,downstream_gene_variant,,ENST00000599143,;	A	ENST00000421239	Transcript	synonymous_variant	1000/2017	756/1773	252/590	I	atC/atA		1		1	ZNF578	HGNC	HGNC:26449	protein_coding	YES	CCDS54310.1	ENSP00000459216	Q96N58		UPI000048A457	NM_001099694.1			6/6		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	75	52511137	52511137	C	A	1	0	0	0	0	0	0	0	1	18584	845	30	2		2	ZNF578	19	52511137	Silent	SNP	C	C3N-01410_TP	1406885	52511137	6106479	240	24634											
ZNF160	0	.	GRCh38	chr19	53068754	53068754	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccacagtcattacactTgtaaggtttttctccagtat	9	16	6	10	0	3	0	1	0	2	0	4	0	3	0	2	1	2	3	2	1	3	6	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.1780A>C	p.Lys594Gln	p.K594Q	ENST00000429604	7/7	171	85	86	174	174	0	strelka-varscan-mutect	ZNF160,missense_variant,p.Lys558Gln,ENST00000601421,;ZNF160,missense_variant,p.Lys594Gln,ENST00000429604,NM_001322132.1,NM_001322129.1,NM_001322138.1,NM_001322134.1,NM_001322131.1,NM_001322133.1,NM_198893.2,NM_001102603.1;ZNF160,missense_variant,p.Lys594Gln,ENST00000599056,NM_001322138.1;ZNF160,missense_variant,p.Lys594Gln,ENST00000418871,NM_001322135.1,NM_001322128.1,NM_001322138.1,NM_001322136.1,NM_033288.3;ZNF160,downstream_gene_variant,,ENST00000599247,;ZNF160,downstream_gene_variant,,ENST00000355147,NM_001322126.1;ZNF160,downstream_gene_variant,,ENST00000601982,;	G	ENST00000429604	Transcript	missense_variant	2196/4336	1780/2457	594/818	K/Q	Aag/Cag		1		-1	ZNF160	HGNC	HGNC:12948	protein_coding	YES	CCDS12859.1	ENSP00000406201	Q9HCG1	A0A024R4Q2	UPI0000202B37	NM_001322132.1,NM_001322129.1,NM_001322138.1,NM_001322134.1,NM_001322131.1,NM_001322133.1,NM_198893.2,NM_001102603.1	deleterious(0.05)		7/7		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF132,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		.	.												G	3	3	75	53068754	53068754	T	G	1	0	0	0	0	1	0	0	0	18320	1821	63	5		5	ZNF160	19	53068754	Missense_Mutation	SNP	T	C3N-01410_TP	557617	53068754	5548862	241	24635											
ZNF329	0	.	GRCh38	chr19	58128772	58128772	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgatgcacaatcaggttGtagttcttggagaaggactt	10	14	11	6	0	2	2	1	1	1	1	2	4	2	3	0	3	1	4	0	3	3	6	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.732C>A	p.Tyr244Ter	p.Y244*	ENST00000597186	5/5	60	39	21	57	57	0	strelka-varscan-mutect	ZNF329,stop_gained,p.Tyr244Ter,ENST00000597186,;ZNF329,stop_gained,p.Tyr244Ter,ENST00000598312,NM_024620.3;ZNF329,stop_gained,p.Tyr244Ter,ENST00000358067,;ZNF329,downstream_gene_variant,,ENST00000601887,;ZNF329,stop_gained,p.Tyr244Ter,ENST00000500161,;	T	ENST00000597186	Transcript	stop_gained	1410/3930	732/1626	244/541	Y/*	taC/taA		1		-1	ZNF329	HGNC	HGNC:14209	protein_coding	YES	CCDS12972.1	ENSP00000470323	Q86UD4	A0A024R4Q4	UPI0000246E79				5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF118,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	75	58128772	58128772	G	T	1	0	0	0	0	0	1	0	0	18419	1372	48	2		2	ZNF329	19	58128772	Nonsense_Mutation	SNP	G	C3N-01410_TP	5060018	58128772	488844	242	24636											
SLC27A5	0	.	GRCh38	chr19	58509869	58509869	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatctaagcagccgaggatCccaacgacaagtcccatcac	14	5	8	14	2	2	1	1	0	1	1	4	4	4	2	3	1	3	1	3	1	3	1	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1035G>T	p.=	p.G345G	ENST00000263093	3/10	101	49	52	104	104	0	strelka-varscan-mutect	SLC27A5,synonymous_variant,p.=,ENST00000263093,NM_012254.2;SLC27A5,synonymous_variant,p.=,ENST00000601355,NM_001321196.1;ZBTB45,downstream_gene_variant,,ENST00000594051,NM_001316979.1;ZBTB45,downstream_gene_variant,,ENST00000354590,NM_032792.2;ZBTB45,downstream_gene_variant,,ENST00000600990,;SLC27A5,non_coding_transcript_exon_variant,,ENST00000593745,;SLC27A5,non_coding_transcript_exon_variant,,ENST00000594683,;	A	ENST00000263093	Transcript	synonymous_variant	1145/2361	1035/2073	345/690	G	ggG/ggT		1		-1	SLC27A5	HGNC	HGNC:10999	protein_coding	YES	CCDS12983.1	ENSP00000263093	Q9Y2P5		UPI0000072ECE	NM_012254.2			3/10		Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF99,Superfamily_domains:SSF56801																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	75	58509869	58509869	C	A	1	0	0	0	0	0	0	0	1	14799	842	30	2		2	SLC27A5	19	58509869	Silent	SNP	C	C3N-01410_TP	381097	58509869	107747	243	24637											
TMC2	0	.	GRCh38	chr20	2641349	2641349	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcagagacctccccacTgatggctaggactccaggga	9	7	12	13	0	1	2	1	1	0	1	3	5	3	4	4	3	1	2	4	3	1	1	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.2719T>A	p.Ter907ArgextTer44	p.*907Rext*44	ENST00000358864	20/20	132	107	25	89	89	0	strelka-varscan-mutect	TMC2,stop_lost,p.Ter907ArgextTer44,ENST00000358864,NM_080751.2;	A	ENST00000358864	Transcript	stop_lost	2734/3169	2719/2721	907/906	*/R	Tga/Aga		1		1	TMC2	HGNC	HGNC:16527	protein_coding	YES	CCDS13029.2	ENSP00000351732	Q8TDI7		UPI0000246C98	NM_080751.2			20/20																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	75	2641349	2641349	T	A	1	0	0	0	0	0	0	0	0	16431	1593	55	4		4	TMC2	20	2641349	Nonstop_Mutation	SNP	T	C3N-01410_TP		2641349	61802818	244	24638											
FAM83C	0	.	GRCh38	chr20	35292111	35292111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggcagctcccgctcctcgGagatgacccgcaggtaggca	8	5	14	14	3	0	2	0	1	0	1	3	3	2	2	3	4	1	6	3	4	1	1	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.194C>A	p.Ser65Tyr	p.S65Y	ENST00000374408	1/4	384	324	60	377	377	0	strelka-varscan-mutect	FAM83C,missense_variant,p.Ser65Tyr,ENST00000374408,NM_178468.5;	T	ENST00000374408	Transcript	missense_variant	291/3145	194/2244	65/747	S/Y	tCc/tAc		1		-1	FAM83C	HGNC	HGNC:16121	protein_coding	YES	CCDS13251.1	ENSP00000363529	Q9BQN1		UPI0000072DC0	NM_178468.5	deleterious(0)		1/4		Pfam_domain:PF07894,hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	75	35292111	35292111	G	T	1	0	0	0	0	1	0	0	0	5493	1174	41	2		2	FAM83C	20	35292111	Missense_Mutation	SNP	G	C3N-01410_TP	32650762	35292111	29152056	245	24639											
CPNE1	0	.	GRCh38	chr20	35632007	35632007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaactccagaaatggatCtgattttcccaggaagtcct	13	10	9	9	0	1	3	0	1	1	2	4	6	4	5	3	2	1	0	3	2	4	2	rs773196207		C3N-01410_TP	C3N-01410_NB	C	C																c.490G>T	p.Asp164Tyr	p.D164Y	ENST00000317677	6/16	199	140	59	199	199	0	strelka-varscan-mutect	CPNE1,missense_variant,p.Asp159Tyr,ENST00000352393,NM_152928.2;CPNE1,missense_variant,p.Asp164Tyr,ENST00000317677,NM_003915.5;CPNE1,missense_variant,p.Asp159Tyr,ENST00000397443,NM_001198863.1,NM_152925.2,NM_152927.2,NM_152926.2;CPNE1,missense_variant,p.Asp159Tyr,ENST00000437340,;CPNE1,missense_variant,p.Asp159Tyr,ENST00000397442,;CPNE1,missense_variant,p.Asp135Tyr,ENST00000430570,;CPNE1,missense_variant,p.Asp159Tyr,ENST00000414664,;CPNE1,missense_variant,p.Asp135Tyr,ENST00000412056,;CPNE1,missense_variant,p.Asp159Tyr,ENST00000434795,;CPNE1,missense_variant,p.Asp159Tyr,ENST00000420363,;CPNE1,missense_variant,p.Asp159Tyr,ENST00000439806,;CPNE1,missense_variant,p.Asp159Tyr,ENST00000440240,;CPNE1,missense_variant,p.Asp135Tyr,ENST00000416778,;CPNE1,missense_variant,p.Asp135Tyr,ENST00000458038,;CPNE1,downstream_gene_variant,,ENST00000437100,;CPNE1,upstream_gene_variant,,ENST00000415920,;CPNE1,downstream_gene_variant,,ENST00000414711,;CPNE1,downstream_gene_variant,,ENST00000435747,;CPNE1,upstream_gene_variant,,ENST00000498814,;CPNE1,upstream_gene_variant,,ENST00000498056,;CPNE1,missense_variant,p.Asp159Tyr,ENST00000401607,;CPNE1,3_prime_UTR_variant,,ENST00000439669,;CPNE1,non_coding_transcript_exon_variant,,ENST00000483359,;CPNE1,non_coding_transcript_exon_variant,,ENST00000483495,;CPNE1,non_coding_transcript_exon_variant,,ENST00000486021,;RP1-309K20.6,downstream_gene_variant,,ENST00000541176,;CPNE1,upstream_gene_variant,,ENST00000473373,;RP1-309K20.6,downstream_gene_variant,,ENST00000454607,;RP1-309K20.6,downstream_gene_variant,,ENST00000441563,;	A	ENST00000317677	Transcript	missense_variant	625/1961	490/1629	164/542	D/Y	Gat/Tat	rs773196207	1		-1	CPNE1	HGNC	HGNC:2314	protein_coding	YES	CCDS46595.1	ENSP00000317257		B0QZ18	UPI0000D4B36B	NM_003915.5	deleterious(0.01)		6/16		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF2,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		rs773196207	.												A	3	1	75	35632007	35632007	C	A	1	0	0	0	0	1	0	0	0	3606	913	32	2		2	CPNE1	20	35632007	Missense_Mutation	SNP	C	C3N-01410_TP	339896	35632007	28812160	246	24640											
CTCFL	0	.	GRCh38	chr20	57498666	57498666	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctcctgggaactgttCtcccttcgtggtggaagcct	5	13	10	13	1	2	0	0	0	2	0	6	2	3	2	3	3	2	1	3	3	2	2	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1876G>T	p.Glu626Ter	p.E626*	ENST00000423479	11/12	159	107	52	153	153	0	strelka-varscan-mutect	CTCFL,stop_gained,p.Glu626Ter,ENST00000608263,NM_001269041.1;CTCFL,stop_gained,p.Glu576Ter,ENST00000429804,NM_001269046.1;CTCFL,stop_gained,p.Glu626Ter,ENST00000609232,NM_080618.3;CTCFL,stop_gained,p.Glu626Ter,ENST00000243914,;CTCFL,stop_gained,p.Glu626Ter,ENST00000371196,NM_001269042.1,NM_001269040.1;CTCFL,stop_gained,p.Glu626Ter,ENST00000423479,NM_001269043.1;CTCFL,downstream_gene_variant,,ENST00000608440,NM_001269044.1;CTCFL,downstream_gene_variant,,ENST00000433949,NM_001269049.1;CTCFL,downstream_gene_variant,,ENST00000502686,NM_001269054.1;CTCFL,downstream_gene_variant,,ENST00000426658,;CTCFL,downstream_gene_variant,,ENST00000422109,;	A	ENST00000423479	Transcript	stop_gained	1967/2478	1876/2103	626/700	E/*	Gaa/Taa		1		-1	CTCFL	HGNC	HGNC:16234	protein_coding	YES	CCDS58780.1	ENSP00000415579	Q8NI51		UPI000157860F	NM_001269043.1			11/12		hmmpanther:PTHR24375:SF96,hmmpanther:PTHR24375																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	75	57498666	57498666	C	A	1	0	0	0	0	0	1	0	0	3808	922	32	2		2	CTCFL	20	57498666	Nonsense_Mutation	SNP	C	C3N-01410_TP	21866659	57498666	6945501	247	24641											
TUBB1	0	.	GRCh38	chr20	59024141	59024141	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgagcggcataaccacCtccctccggttcccgggtca	8	7	9	17	3	1	1	1	1	0	0	4	1	4	1	6	3	2	2	6	3	1	2	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.714C>A	p.=	p.T238T	ENST00000217133	4/4	356	255	101	334	333	1	strelka-varscan-mutect	TUBB1,synonymous_variant,p.=,ENST00000217133,NM_030773.3;ATP5E,downstream_gene_variant,,ENST00000243997,NM_006886.3;ATP5E,downstream_gene_variant,,ENST00000395659,;ATP5E,downstream_gene_variant,,ENST00000395663,;	A	ENST00000217133	Transcript	synonymous_variant	983/3496	714/1356	238/451	T	acC/acA		1		1	TUBB1	HGNC	HGNC:16257	protein_coding	YES	CCDS13475.1	ENSP00000217133	Q9H4B7		UPI0000071B14	NM_030773.3			4/4		Gene3D:3.40.50.1440,Prints_domain:PR01163,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF112,SMART_domains:SM00864,Superfamily_domains:SSF52490																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	75	59024141	59024141	C	A	1	0	0	0	0	0	0	0	1	17264	668	24	2		2	TUBB1	20	59024141	Silent	SNP	C	C3N-01410_TP	1525475	59024141	5420026	248	24642											
UBASH3A	0	.	GRCh38	chr21	42426701	42426701	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccttcccctgcaggatgTacaccttcagtctagccaca	8	12	6	15	0	2	0	1	0	1	0	4	1	4	1	5	1	3	2	5	1	2	5	novel		C3N-01410_TP	C3N-01410_NB	T	T																c.1051T>A	p.Tyr351Asn	p.Y351N	ENST00000319294	8/15	127	77	50	136	136	0	strelka-varscan-mutect	UBASH3A,missense_variant,p.Tyr351Asn,ENST00000319294,NM_018961.3;UBASH3A,missense_variant,p.Tyr313Asn,ENST00000291535,NM_001001895.2;UBASH3A,missense_variant,p.Tyr313Asn,ENST00000398367,NM_001243467.1;UBASH3A,missense_variant,p.Tyr313Asn,ENST00000473381,;UBASH3A,missense_variant,p.Tyr313Asn,ENST00000635325,;	A	ENST00000319294	Transcript	missense_variant	1082/2504	1051/1986	351/661	Y/N	Tac/Aac		1		1	UBASH3A	HGNC	HGNC:12462	protein_coding	YES	CCDS13687.1	ENSP00000317327	P57075		UPI0000137941	NM_018961.3	deleterious(0.01)		8/15		hmmpanther:PTHR16469:SF7,hmmpanther:PTHR16469																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	42426701	42426701	T	A	1	0	0	0	0	1	0	0	0	17361	1652	57	4		4	UBASH3A	21	42426701	Missense_Mutation	SNP	T	C3N-01410_TP		42426701	4283282	249	24643											
KRTAP10-2	0	.	GRCh38	chr21	44550779	44550779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagggacacagaggaggagGgtctgcagcaggaggaggtg	11	3	22	5	0	1	1	0	0	1	1	1	7	1	7	0	8	2	2	0	8	0	0	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.680C>A	p.Pro227His	p.P227H	ENST00000391621	1/1	291	192	99	419	419	0	strelka-varscan-mutect	KRTAP10-2,missense_variant,p.Pro227His,ENST00000391621,NM_198693.3;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000397916,;KRTAP10-2,intron_variant,,ENST00000498210,;	T	ENST00000391621	Transcript	missense_variant	727/1149	680/768	227/255	P/H	cCc/cAc		1		-1	KRTAP10-2	HGNC	HGNC:22967	protein_coding	YES	CCDS42955.1	ENSP00000375479	P60368		UPI000021C438	NM_198693.3	deleterious(0)		1/1		Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF8,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		.	.												T	3	4	75	44550779	44550779	G	T	1	0	0	0	0	1	0	0	0	8392	1232	43	2		2	KRTAP10-2	21	44550779	Missense_Mutation	SNP	G	C3N-01410_TP	2124078	44550779	2159204	250	24644											
IFT27	0	.	GRCh38	chr22	36766138	36766138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaccacgtgctacttgcCaatttatccagcatttccga	12	11	6	12	2	0	1	0	0	0	1	2	2	2	1	4	0	4	2	4	0	4	5	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.234G>T	p.Leu78Phe	p.L78F	ENST00000433985	4/7	195	110	85	240	240	0	strelka-varscan-mutect	IFT27,missense_variant,p.Leu77Phe,ENST00000340630,NM_006860.4;IFT27,missense_variant,p.Leu78Phe,ENST00000433985,NM_001177701.2;IFT27,missense_variant,p.Leu117Phe,ENST00000417951,;IFT27,missense_variant,p.Leu37Phe,ENST00000440696,;IFT27,missense_variant,p.Leu77Phe,ENST00000430701,;IFT27,missense_variant,p.Leu53Phe,ENST00000415653,;IFT27,splice_region_variant,,ENST00000471809,;IFT27,splice_region_variant,,ENST00000495555,;IFT27,downstream_gene_variant,,ENST00000465023,;	A	ENST00000433985	Transcript	missense_variant,splice_region_variant	660/1095	234/561	78/186	L/F	ttG/ttT		1		-1	IFT27	HGNC	HGNC:18626	protein_coding	YES	CCDS54523.1	ENSP00000393541	Q9BW83		UPI000013314C	NM_001177701.2	tolerated(0.54)		4/7		PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF547,hmmpanther:PTHR24073,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	36766138	36766138	C	A	1	0	0	0	0	1	0	0	0	7464	608	21	2		2	IFT27	22	36766138	Missense_Mutation	SNP	C	C3N-01410_TP		36766138	14052330	251	24645											
AKAP17A	0	.	GRCh38	chrX	1601369	1601369	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggaggccacgcaaggagcgGcggccccacaagaagcacgc	11	0	16	14	4	0	1	0	0	0	1	0	3	0	3	3	5	2	2	3	5	3	0	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.1863G>T	p.=	p.R621R	ENST00000313871	5/5	66	53	13	55	55	0	strelka-varscan-mutect	AKAP17A,synonymous_variant,p.=,ENST00000313871,NM_005088.2;AKAP17A,downstream_gene_variant,,ENST00000381261,;AKAP17A,3_prime_UTR_variant,,ENST00000474361,;	T	ENST00000313871	Transcript	synonymous_variant	2059/3204	1863/2088	621/695	R	cgG/cgT		1		1	AKAP17A	HGNC	HGNC:18783	protein_coding	YES	CCDS14116.1	ENSP00000324827	Q02040		UPI00001AF072	NM_005088.2			5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR12484,hmmpanther:PTHR12484:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	75	1601369	1601369	G	T	1	0	0	0	0	0	0	0	1	534	1190	42	2		2	AKAP17A	23	1601369	Silent	SNP	G	C3N-01410_TP		1601369	154439526	252	24646											
DHRSX	0	.	GRCh38	chrX	2266940	2266940	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctgagggaccatcatCaccccagctggacaaaagag	12	7	9	13	0	3	2	2	1	1	1	4	4	4	4	4	2	1	1	4	2	2	1	rs771423972		C3N-01410_TP	C3N-01410_NB	C	C																c.396G>T	p.=	p.V132V	ENST00000334651	5/7	198	170	28	196	196	0	strelka-varscan-mutect	DHRSX,synonymous_variant,p.=,ENST00000334651,NM_145177.2;DHRSX,synonymous_variant,p.=,ENST00000444280,;DHRSX,synonymous_variant,p.=,ENST00000412516,;DHRSX,upstream_gene_variant,,ENST00000464935,;DHRSX,3_prime_UTR_variant,,ENST00000441131,;	A	ENST00000334651	Transcript	synonymous_variant	449/2571	396/993	132/330	V	gtG/gtT	rs771423972	1		-1	DHRSX	HGNC	HGNC:18399	protein_coding	YES	CCDS35195.1	ENSP00000334113	Q8N5I4		UPI0000D61D1C	NM_145177.2			5/7		hmmpanther:PTHR24319,hmmpanther:PTHR24319:SF33,Gene3D:3.40.50.720,Pfam_domain:PF00106,Superfamily_domains:SSF51735,Prints_domain:PR00081																	LOW	1	SNV	1			1										PASS		rs771423972	.												A	2	1	75	2266940	2266940	C	A	1	0	0	0	0	0	0	0	1	4303	813	29	2		2	DHRSX	23	2266940	Silent	SNP	C	C3N-01410_TP	665571	2266940	153773955	253	24647											
MAGEB6P1	0	.	GRCh38	chrX	26161761	26161761	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaccagtcccggtttataCccacatctgtatgaagacgc	12	9	7	13	2	1	2	0	1	1	1	2	2	2	2	3	1	2	2	3	1	5	4	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1161C>A	p.Tyr387Ter	p.Y387*	ENST00000416929	1/1	129	62	67	98	98	0	strelka-varscan-mutect	MAGEB6P1,stop_gained,p.Tyr387Ter,ENST00000416929,;	A	ENST00000416929	Transcript	stop_gained	1161/1224	1161/1224	387/407	Y/*	taC/taA		1		1	MAGEB6P1	HGNC	HGNC:28824	protein_coding	YES		ENSP00000488257		A0A0J9YX57	UPI0000237759				1/1		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF80,hmmpanther:PTHR11736																	HIGH	1	SNV				1										PASS		.	.												A	4	1	75	26161761	26161761	C	A	1	0	0	0	0	0	1	0	0	9097	518	18	2		2	MAGEB6P1	23	26161761	Nonsense_Mutation	SNP	C	C3N-01410_TP	23894821	26161761	129879134	254	24648											
FGD1	0	.	GRCh38	chrX	54468858	54468858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcattggcaatgtgaaacaCcttttgctgcacagtcaact	11	12	7	11	0	2	1	2	1	0	0	2	1	2	1	1	1	4	3	1	1	3	3	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1120G>T	p.Val374Leu	p.V374L	ENST00000375135	5/18	222	110	112	165	165	0	strelka-varscan-mutect	FGD1,missense_variant,p.Val374Leu,ENST00000375135,NM_004463.2;	A	ENST00000375135	Transcript	missense_variant	1854/4275	1120/2886	374/961	V/L	Gtg/Ttg		1		-1	FGD1	HGNC	HGNC:3663	protein_coding	YES	CCDS14359.1	ENSP00000364277	P98174	A0A024R9Y5	UPI000012A705	NM_004463.2	tolerated(1)		5/18		PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF79,Gene3D:1.20.900.10,Superfamily_domains:SSF48065																	MODERATE	1	SNV	1			1										PASS		rs1397655152	.												A	3	1	75	54468858	54468858	C	A	1	0	0	0	0	1	0	0	0	5696	507	18	2		2	FGD1	23	54468858	Missense_Mutation	SNP	C	C3N-01410_TP	28307097	54468858	101572037	255	24649											
AMER1	0	.	GRCh38	chrX	64191797	64191797	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	catctccactgtagctgtctCggggtagacaatccctgcgg	7	10	11	13	2	2	1	0	0	2	1	5	1	3	1	2	3	2	3	2	3	3	2			C3N-01410_TP	C3N-01410_NB	C	C																c.1490G>C	p.Arg497Pro	p.R497P	ENST00000330258	2/2	101	37	64	58	58	0	strelka-varscan-mutect	AMER1,missense_variant,p.Arg497Pro,ENST00000330258,NM_152424.3;AMER1,missense_variant,p.Arg497Pro,ENST00000374869,;	G	ENST00000330258	Transcript	missense_variant	1763/8443	1490/3408	497/1135	R/P	cGa/cCa	COSM3390741,COSM3390742	1		-1	AMER1	HGNC	HGNC:26837	protein_coding	YES	CCDS14377.2	ENSP00000329117	Q5JTC6		UPI0000EDA0FC	NM_152424.3	deleterious(0)		2/2		hmmpanther:PTHR22237:SF0,hmmpanther:PTHR22237,Pfam_domain:PF09422											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1259792397	.												G	3	3	75	64191797	64191797	C	G	1	0	0	0	0	1	0	0	0	667	884	31	4		4	AMER1	23	64191797	Missense_Mutation	SNP	C	C3N-01410_TP	9722939	64191797	91849098	256	24650											
NRK	0	.	GRCh38	chrX	105946324	105946324	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatattcacaggtatttccaAcacttgatcataagccagtg	13	13	6	9	0	2	1	2	1	0	0	3	1	3	1	2	1	2	1	2	1	5	7	novel		C3N-01410_TP	C3N-01410_NB	A	A																c.4213A>G	p.Thr1405Ala	p.T1405A	ENST00000243300	26/29	52	38	14	36	36	0	strelka-varscan-mutect	NRK,missense_variant,p.Thr1405Ala,ENST00000243300,NM_198465.3;NRK,upstream_gene_variant,,ENST00000540278,;	G	ENST00000243300	Transcript	missense_variant	4516/8062	4213/4749	1405/1582	T/A	Aca/Gca		1		1	NRK	HGNC	HGNC:25391	protein_coding	YES	CCDS65305.1	ENSP00000434830	Q7Z2Y5		UPI0000418886	NM_198465.3	deleterious(0.03)		26/29		PROSITE_profiles:PS50219,Pfam_domain:PF00780,SMART_domains:SM00036																	MODERATE	1	SNV	1			1										PASS		rs1378907401	.												G	3	3	75	105946324	105946324	A	G	1	0	0	0	0	1	0	0	0	10713	43	2	5		5	NRK	23	105946324	Missense_Mutation	SNP	A	C3N-01410_TP	41754527	105946324	50094571	257	24651											
ZBTB33	0	.	GRCh38	chrX	120255049	120255049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcatgaaattcatcacaCaggggagcgaaggtatcagt	16	7	11	7	1	3	1	3	1	0	0	3	3	3	2	0	3	2	2	0	3	4	2			C3N-01410_TP	C3N-01410_NB	C	C																c.1634C>T	p.Thr545Ile	p.T545I	ENST00000326624	2/2	194	76	118	167	167	0	strelka-varscan-mutect	ZBTB33,missense_variant,p.Thr545Ile,ENST00000326624,NM_006777.3;ZBTB33,missense_variant,p.Thr545Ile,ENST00000557385,NM_001184742.1;TMEM255A,downstream_gene_variant,,ENST00000371369,NM_001104544.1;TMEM255A,downstream_gene_variant,,ENST00000309720,NM_017938.3;TMEM255A,downstream_gene_variant,,ENST00000440464,NM_001104545.1;TMEM255A,downstream_gene_variant,,ENST00000371352,;	T	ENST00000326624	Transcript	missense_variant	1862/5211	1634/2019	545/672	T/I	aCa/aTa	COSM4850664	1		1	ZBTB33	HGNC	HGNC:16682	protein_coding	YES	CCDS14596.1	ENSP00000314153	Q86T24		UPI0000072F87	NM_006777.3	deleterious(0)		2/2		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF301,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	75	120255049	120255049	C	T	1	0	0	0	0	1	0	0	0	18105	478	17	3		3	ZBTB33	23	120255049	Missense_Mutation	SNP	C	C3N-01410_TP	14308725	120255049	35785846	258	24652											
TEX13C	0	.	GRCh38	chrX	125322060	125322060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggtccccctgggggacagCcacagcctgaagaaagatcc	11	5	12	13	0	0	3	0	1	0	2	2	4	2	4	5	3	2	0	5	3	2	0	rs747192018		C3N-01410_TP	C3N-01410_NB	C	C																c.1941C>A	p.Ser647Arg	p.S647R	ENST00000632600	1/1	116	55	61	91	91	0	strelka-varscan-mutect	TEX13C,missense_variant,p.Ser647Arg,ENST00000632600,NM_001195272.1;RP13-147D17.1,downstream_gene_variant,,ENST00000394467,;	A	ENST00000632600	Transcript	missense_variant	1941/5095	1941/2982	647/993	S/R	agC/agA	rs747192018	1		1	TEX13C	HGNC	HGNC:52277	protein_coding	YES		ENSP00000488022	A0A0J9YWL9		UPI000016014C	NM_001195272.1	tolerated(0.12)		1/1																			MODERATE	1	SNV				1										PASS		rs747192018	.												A	3	1	75	125322060	125322060	C	A	1	0	0	0	0	1	0	0	0	16199	738	26	2		2	TEX13C	23	125322060	Missense_Mutation	SNP	C	C3N-01410_TP	5067011	125322060	30718835	259	24653											
GPR101	0	.	GRCh38	chrX	137030268	137030268	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgcagaagaacttcttCagcatgtcctggatttcctt	8	15	7	11	0	2	2	1	0	1	2	5	3	5	3	3	1	3	2	3	1	2	5	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.1407G>T	p.=	p.L469L	ENST00000298110	1/1	85	70	15	61	61	0	strelka-varscan-mutect	GPR101,synonymous_variant,p.=,ENST00000298110,NM_054021.1;	A	ENST00000298110	Transcript	synonymous_variant	1407/1527	1407/1527	469/508	L	ctG/ctT		1		-1	GPR101	HGNC	HGNC:14963	protein_coding	YES	CCDS14662.1	ENSP00000298110	Q96P66		UPI000003BCCD	NM_054021.1			1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF2,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	75	137030268	137030268	C	A	1	0	0	0	0	0	0	0	1	6524	813	29	2		2	GPR101	23	137030268	Silent	SNP	C	C3N-01410_TP	11708208	137030268	19010627	260	24654											
ZIC3	0	.	GRCh38	chrX	137567270	137567270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcgtggggagctgttCggccgtgctgacccataccg	4	8	17	12	4	0	1	0	1	0	0	1	2	0	2	3	4	4	4	3	4	1	2	novel		C3N-01410_TP	C3N-01410_NB	C	C																c.579C>A	p.Phe193Leu	p.F193L	ENST00000287538	1/3	169	119	50	118	118	0	strelka-varscan-mutect	ZIC3,missense_variant,p.Phe193Leu,ENST00000287538,NM_003413.3;ZIC3,missense_variant,p.Phe193Leu,ENST00000370606,;RP1-137H15.2,upstream_gene_variant,,ENST00000442841,;RP1-137H15.2,upstream_gene_variant,,ENST00000456631,;ZIC3,upstream_gene_variant,,ENST00000478471,;	A	ENST00000287538	Transcript	missense_variant	1129/3469	579/1404	193/467	F/L	ttC/ttA		1		1	ZIC3	HGNC	HGNC:12874	protein_coding	YES	CCDS14663.1	ENSP00000287538	O60481		UPI000013C3DD	NM_003413.3	tolerated(0.12)		1/3		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF25																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	75	137567270	137567270	C	A	1	0	0	0	0	1	0	0	0	18259	883	31	1		1	ZIC3	23	137567270	Missense_Mutation	SNP	C	C3N-01410_TP	537002	137567270	18473625	261	24655											
AFF2	0	.	GRCh38	chrX	148966853	148966853	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaatactgctattgccActgctactgtcactgctact	9	13	5	14	0	2	0	2	0	0	0	2	0	2	0	2	0	7	3	2	0	5	5			C3N-01410_TP	C3N-01410_NB	A	A																c.2977A>T	p.Thr993Ser	p.T993S	ENST00000370460	14/21	173	82	91	148	148	0	strelka-varscan-mutect	AFF2,missense_variant,p.Thr993Ser,ENST00000370460,NM_001169123.1,NM_002025.3;AFF2,missense_variant,p.Thr634Ser,ENST00000286437,NM_001170628.1;AFF2,missense_variant,p.Thr958Ser,ENST00000342251,NM_001169122.1;AFF2,missense_variant,p.Thr958Ser,ENST00000370457,NM_001169124.1,NM_001169125.1;	T	ENST00000370460	Transcript	missense_variant	3456/13746	2977/3936	993/1311	T/S	Act/Tct	COSM1466238,COSM1466239,COSM1466240	1		1	AFF2	HGNC	HGNC:3776	protein_coding	YES	CCDS14684.1	ENSP00000359489	P51816		UPI000049E130	NM_001169123.1,NM_002025.3	tolerated(0.53)		14/21		Low_complexity_(Seg):seg,Pfam_domain:PF05110											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												T	3	4	75	148966853	148966853	A	T	1	0	0	0	0	1	0	0	0	434	159	6	4		4	AFF2	23	148966853	Missense_Mutation	SNP	A	C3N-01410_TP	11399583	148966853	7074042	262	24656											
PLXNB3	0	.	GRCh38	chrX	153772928	153772928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcctcgctggggcccccagGcagggggcacccagctcacc	5	4	14	18	1	1	0	1	0	0	0	3	0	2	0	5	5	1	4	5	5	0	0	novel		C3N-01410_TP	C3N-01410_NB	G	G																c.2887G>A	p.Ala963Thr	p.A963T	ENST00000538966	18/37	25	9	16	37	37	0	strelka-varscan-mutect	PLXNB3,missense_variant,p.Ala963Thr,ENST00000538966,NM_001163257.1;PLXNB3,missense_variant,p.Ala940Thr,ENST00000361971,NM_005393.2;SRPK3,upstream_gene_variant,,ENST00000489426,;PLXNB3,upstream_gene_variant,,ENST00000411613,;PLXNB3,upstream_gene_variant,,ENST00000448847,;PLXNB3,upstream_gene_variant,,ENST00000455214,;PLXNB3,upstream_gene_variant,,ENST00000485980,;PLXNB3,upstream_gene_variant,,ENST00000482654,;	A	ENST00000538966	Transcript	missense_variant	3158/6377	2887/5799	963/1932	A/T	Gca/Aca		1		1	PLXNB3	HGNC	HGNC:9105	protein_coding	YES	CCDS55536.1	ENSP00000442736	Q9ULL4		UPI0001AFF680	NM_001163257.1	deleterious(0)		18/37		Gene3D:2.60.40.10,Pfam_domain:PF01833,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,SMART_domains:SM00429,Superfamily_domains:SSF81296																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	75	153772928	153772928	G	A	1	0	0	0	0	1	0	0	0	12231	1203	42	3		3	PLXNB3	23	153772928	Missense_Mutation	SNP	G	C3N-01410_TP	4806075	153772928	2267967	263	24657											
SRPK3	0	.	GRCh38	chrX	153784016	153784016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcggctccacatcctCttcaggctgtcaccccgggg	5	7	13	16	2	3	0	2	0	1	0	5	0	5	0	4	5	1	3	4	5	0	1	rs782203334		C3N-01410_TP	C3N-01410_NB	C	C																c.950C>A	p.Ser317Tyr	p.S317Y	ENST00000370101	10/15	63	27	36	37	37	0	strelka-varscan-mutect	SRPK3,missense_variant,p.Ser384Tyr,ENST00000489426,;SRPK3,missense_variant,p.Ser317Tyr,ENST00000370101,NM_014370.3;SRPK3,missense_variant,p.Ser316Tyr,ENST00000393786,NM_001170761.1;SRPK3,missense_variant,p.Ser316Tyr,ENST00000370108,;SRPK3,missense_variant,p.Ser316Tyr,ENST00000370104,NM_001170760.1;SRPK3,missense_variant,p.Ser274Tyr,ENST00000370100,;PLXNB3,downstream_gene_variant,,ENST00000538966,NM_001163257.1;PLXNB3,downstream_gene_variant,,ENST00000361971,NM_005393.2;IDH3G,downstream_gene_variant,,ENST00000370092,NM_174869.2;IDH3G,downstream_gene_variant,,ENST00000370093,;IDH3G,downstream_gene_variant,,ENST00000427365,;IDH3G,downstream_gene_variant,,ENST00000217901,NM_004135.3;IDH3G,downstream_gene_variant,,ENST00000619865,;IDH3G,downstream_gene_variant,,ENST00000444450,;IDH3G,downstream_gene_variant,,ENST00000454076,;SRPK3,downstream_gene_variant,,ENST00000430541,;IDH3G,downstream_gene_variant,,ENST00000444338,;SRPK3,upstream_gene_variant,,ENST00000458681,;IDH3G,downstream_gene_variant,,ENST00000497043,;IDH3G,downstream_gene_variant,,ENST00000461215,;IDH3G,downstream_gene_variant,,ENST00000495356,;PLXNB3,downstream_gene_variant,,ENST00000472415,;PLXNB3,downstream_gene_variant,,ENST00000469190,;	A	ENST00000370101	Transcript	missense_variant	996/1958	950/1704	317/567	S/Y	tCt/tAt	rs782203334	1		1	SRPK3	HGNC	HGNC:11402	protein_coding	YES	CCDS35441.1	ENSP00000359119	Q9UPE1		UPI000050571A	NM_014370.3	tolerated(0.06)		10/15		Low_complexity_(Seg):seg,PROSITE_profiles:PS50011,SMART_domains:SM00220																	MODERATE	1	SNV	1			1										PASS		rs782203334	.												A	3	1	75	153784016	153784016	C	A	1	0	0	0	0	1	0	0	0	15522	913	32	2		2	SRPK3	23	153784016	Missense_Mutation	SNP	C	C3N-01410_TP	11088	153784016	2256879	264	24658											
ENO1	0	.	GRCh38	chr1	8866460	8866460	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaactcctgcatggccagCttgttgccagcatgagaacc	10	9	10	12	0	0	2	0	2	0	1	1	3	1	2	4	1	6	4	4	1	2	2	novel		C3N-01413_TP	C3N-01413_NB	C	C																c.486G>A	p.=	p.K162K	ENST00000234590	7/12	260	247	13	259	259	0	strelka-varscan-mutect	ENO1,synonymous_variant,p.=,ENST00000234590,NM_001428.3;ENO1,synonymous_variant,p.=,ENST00000497492,;MIR6728,downstream_gene_variant,,ENST00000618792,;ENO1,non_coding_transcript_exon_variant,,ENST00000464920,;ENO1,downstream_gene_variant,,ENST00000492343,;ENO1,downstream_gene_variant,,ENST00000486051,;	T	ENST00000234590	Transcript	synonymous_variant	606/1783	486/1305	162/434	K	aaG/aaA		1		-1	ENO1	HGNC	HGNC:3350	protein_coding	YES	CCDS97.1	ENSP00000234590	P06733	A0A024R4F1	UPI000013C9AF	NM_001428.3			7/12		HAMAP:MF_00318,hmmpanther:PTHR11902,TIGRFAM_domain:TIGR01060,Pfam_domain:PF00113,Gene3D:3.20.20.120,PIRSF_domain:PIRSF001400,SMART_domains:SM01192,Superfamily_domains:SSF51604																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	76	8866460	8866460	C	T	1	0	0	0	0	0	0	0	1	4965	796	28	3		3	ENO1	1	8866460	Silent	SNP	C	C3N-01413_TP		8866460	240089962	1	24659											
ZNF362	0	.	GRCh38	chr1	33295290	33295290	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactgctgcagcatgtgtggGcgggcctacacctcggtgag	6	9	15	11	2	0	1	0	1	0	0	1	1	0	1	2	3	5	3	2	3	2	2	rs867453488		C3N-01413_TP	C3N-01413_NB	G	G																c.1131G>C	p.=	p.G377G	ENST00000539719	8/9	164	140	24	129	129	0	strelka-varscan-mutect	ZNF362,synonymous_variant,p.=,ENST00000539719,NM_152493.2;ZNF362,synonymous_variant,p.=,ENST00000373428,;	C	ENST00000539719	Transcript	synonymous_variant	1301/3106	1131/1263	377/420	G	ggG/ggC	rs867453488	1		1	ZNF362	HGNC	HGNC:18079	protein_coding	YES	CCDS377.1	ENSP00000446335	Q5T0B9		UPI000013E046	NM_152493.2			8/9		PROSITE_profiles:PS50157,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	5			1										PASS		rs867453488	.												C	2	2	76	33295290	33295290	G	C	1	0	0	0	0	0	0	0	1	18440	1190	42	4		4	ZNF362	1	33295290	Silent	SNP	G	C3N-01413_TP	24428830	33295290	215661132	2	24660											
MAST2	0	.	GRCh38	chr1	46025689	46025689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttgcagggggagactgtgCcactctgctgaagaatattg	9	11	14	7	0	1	3	0	1	1	2	1	4	1	3	1	2	3	3	1	2	3	3	novel		C3N-01413_TP	C3N-01413_NB	C	C																c.1793C>T	p.Ala598Val	p.A598V	ENST00000361297	16/29	169	150	19	146	146	0	strelka-varscan-mutect	MAST2,missense_variant,p.Ala598Val,ENST00000361297,NM_001324320.1,NM_001319245.1,NM_015112.2;MAST2,missense_variant,p.Ala236Val,ENST00000372009,;MAST2,missense_variant,p.Ala483Val,ENST00000372008,;MAST2,upstream_gene_variant,,ENST00000477968,;MAST2,downstream_gene_variant,,ENST00000467367,;MAST2,downstream_gene_variant,,ENST00000498668,;	T	ENST00000361297	Transcript	missense_variant	2076/5738	1793/5397	598/1798	A/V	gCc/gTc		1		1	MAST2	HGNC	HGNC:19035	protein_coding	YES	CCDS41326.1	ENSP00000354671	Q6P0Q8		UPI0000458AEB	NM_001324320.1,NM_001319245.1,NM_015112.2	deleterious_low_confidence(0)		16/29		PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF136,hmmpanther:PTHR24356,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	76	46025689	46025689	C	T	1	0	0	0	0	1	0	0	0	9251	739	26	3		3	MAST2	1	46025689	Missense_Mutation	SNP	C	C3N-01413_TP	12730399	46025689	202930733	3	24661											
ZYG11B	0	.	GRCh38	chr1	52779899	52779899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgcagaagcactgaagcGttacagtgaacgggcattct	12	9	12	8	2	1	3	0	2	1	1	1	4	1	3	0	1	5	4	0	1	4	3	rs753924795		C3N-01413_TP	C3N-01413_NB	G	G																c.998G>A	p.Arg333His	p.R333H	ENST00000294353	4/14	273	256	17	297	297	0	strelka-varscan-mutect	ZYG11B,missense_variant,p.Arg333His,ENST00000294353,NM_024646.2;ZYG11B,missense_variant,p.Arg333His,ENST00000545132,;	A	ENST00000294353	Transcript	missense_variant	1143/8093	998/2235	333/744	R/H	cGt/cAt	rs753924795,COSM2193055	1		1	ZYG11B	HGNC	HGNC:25820	protein_coding	YES	CCDS30717.1	ENSP00000294353	Q9C0D3		UPI00001C1D70	NM_024646.2	deleterious(0.01)		4/14		hmmpanther:PTHR12904:SF21,hmmpanther:PTHR12904											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs753924795	.												A	3	1	76	52779899	52779899	G	A	1	0	0	0	0	1	0	0	0	18857	1145	40	1		1	ZYG11B	1	52779899	Missense_Mutation	SNP	G	C3N-01413_TP	6754210	52779899	196176523	4	24662											
ASB17	0	.	GRCh38	chr1	75922258	75922258	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttctaagattccatatTgcagtagtattttgaagata	12	17	6	6	0	2	3	0	1	2	2	3	3	3	3	1	0	1	3	1	0	6	10	novel		C3N-01413_TP	C3N-01413_NB	T	T																c.503A>T	p.Gln168Leu	p.Q168L	ENST00000284142	2/3	258	244	14	282	282	0	strelka-varscan-mutect	ASB17,missense_variant,p.Gln168Leu,ENST00000284142,NM_080868.2;	A	ENST00000284142	Transcript	missense_variant	643/1107	503/888	168/295	Q/L	cAa/cTa		1		-1	ASB17	HGNC	HGNC:19769	protein_coding	YES	CCDS671.1	ENSP00000284142	Q8WXJ9		UPI0000073CD7	NM_080868.2	tolerated(0.08)		2/3		Gene3D:1.25.40.20,hmmpanther:PTHR20966,hmmpanther:PTHR20966:SF2,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	76	75922258	75922258	T	A	1	0	0	0	0	1	0	0	0	1163	1812	63	4		4	ASB17	1	75922258	Missense_Mutation	SNP	T	C3N-01413_TP	23142359	75922258	173034164	5	24663											
FCER1A	0	.	GRCh38	chr1	159304157	159304157	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacaagttaatgagagtgaAcctgtgtacctggaagtctt	13	11	10	7	0	1	2	0	2	1	1	1	4	1	3	2	1	3	2	2	1	6	3	novel		C3N-01413_TP	C3N-01413_NB	A	A																c.306A>G	p.=	p.E102E	ENST00000368115	4/6	148	97	51	129	129	0	strelka-varscan-mutect	FCER1A,synonymous_variant,p.=,ENST00000368115,NM_002001.3;FCER1A,synonymous_variant,p.=,ENST00000368114,;	G	ENST00000368115	Transcript	synonymous_variant	405/1165	306/774	102/257	E	gaA/gaG		1		1	FCER1A	HGNC	HGNC:3609	protein_coding	YES	CCDS1184.1	ENSP00000357097	P12319		UPI000002CFDB	NM_002001.3			4/6		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF12,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	76	159304157	159304157	A	G	1	0	0	0	0	0	0	0	1	5637	40	2	5		5	FCER1A	1	159304157	Silent	SNP	A	C3N-01413_TP	83381899	159304157	89652265	6	24664											
FCRLB	0	.	GRCh38	chr1	161727549	161727549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgagccgggtggtcCtggaattaaaggagccacag	9	8	14	10	1	1	1	0	1	1	0	2	3	2	3	4	4	2	0	4	4	3	2	novel		C3N-01413_TP	C3N-01413_NB	C	C																c.1168C>T	p.=	p.L390L	ENST00000367948	8/8	294	211	83	184	184	0	strelka-varscan-mutect	FCRLB,synonymous_variant,p.=,ENST00000367948,NM_001320241.1,NM_001002901.3;FCRLB,3_prime_UTR_variant,,ENST00000336830,NM_001288831.1;FCRLB,3_prime_UTR_variant,,ENST00000367944,NM_001288832.1;FCRLB,3_prime_UTR_variant,,ENST00000367946,NM_001288829.1;FCRLB,3_prime_UTR_variant,,ENST00000367945,NM_001288830.1;FCRLB,non_coding_transcript_exon_variant,,ENST00000495397,;	T	ENST00000367948	Transcript	synonymous_variant	1383/1977	1168/1281	390/426	L	Ctg/Ttg		1		1	FCRLB	HGNC	HGNC:26431	protein_coding	YES	CCDS30927.1	ENSP00000356925	Q6BAA4		UPI00003FF782	NM_001320241.1,NM_001002901.3			8/8																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	76	161727549	161727549	C	T	1	0	0	0	0	0	0	0	1	5663	680	24	3		3	FCRLB	1	161727549	Silent	SNP	C	C3N-01413_TP	2423392	161727549	87228873	7	24665											
MTIF2	0	.	GRCh38	chr2	55236650	55236650	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacatttttaatgtaattttAaaatcctggatcccaagaag	15	15	5	6	0	0	1	0	0	0	1	2	2	2	2	2	1	1	1	2	1	7	7	novel		C3N-01413_TP	C3N-01413_NB	A	A																c.2182T>C	p.Ter728GlnextTer?	p.*728Qext*?	ENST00000263629	16/16	70	63	7	74	74	0	strelka-varscan	MTIF2,stop_lost,p.Ter728GlnextTer?,ENST00000263629,NM_001321001.1,NM_001005369.1,NM_002453.2;MTIF2,stop_lost,p.Ter728GlnextTer?,ENST00000403721,NM_001321002.1;MTIF2,stop_lost,p.Ter728GlnextTer?,ENST00000394600,;CLHC1,upstream_gene_variant,,ENST00000401408,NM_152385.2;CLHC1,upstream_gene_variant,,ENST00000407122,;CLHC1,upstream_gene_variant,,ENST00000406076,NM_001135598.1;RPS27A,downstream_gene_variant,,ENST00000272317,NM_002954.5;MTIF2,downstream_gene_variant,,ENST00000418823,;RPS27A,downstream_gene_variant,,ENST00000404735,NM_001177413.1;RPS27A,downstream_gene_variant,,ENST00000402285,NM_001135592.2;CLHC1,upstream_gene_variant,,ENST00000451916,;RPS27A,downstream_gene_variant,,ENST00000449323,;CLHC1,upstream_gene_variant,,ENST00000494539,;CLHC1,upstream_gene_variant,,ENST00000487320,;CLHC1,upstream_gene_variant,,ENST00000463300,;CLHC1,upstream_gene_variant,,ENST00000464243,;CLHC1,upstream_gene_variant,,ENST00000466020,;CLHC1,upstream_gene_variant,,ENST00000428621,;RPS27A,downstream_gene_variant,,ENST00000495843,;RPS27A,downstream_gene_variant,,ENST00000468810,;RPS27A,downstream_gene_variant,,ENST00000463185,;RPS27A,downstream_gene_variant,,ENST00000478196,;RPS27A,downstream_gene_variant,,ENST00000471772,;RPS27A,downstream_gene_variant,,ENST00000494756,;	G	ENST00000263629	Transcript	stop_lost	2498/2528	2182/2184	728/727	*/Q	Taa/Caa		1		-1	MTIF2	HGNC	HGNC:7441	protein_coding	YES	CCDS1853.1	ENSP00000263629	P46199		UPI000013D42F	NM_001321001.1,NM_001005369.1,NM_002453.2			16/16																			HIGH	1	SNV	1			1										PASS		.	.												G	4	3	76	55236650	55236650	A	G	1	0	0	0	0	0	0	0	0	9923	375	13	5		5	MTIF2	2	55236650	Nonstop_Mutation	SNP	A	C3N-01413_TP		55236650	186956879	8	24666											
KANSL3	0	.	GRCh38	chr2	96631375	96631375	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcagtcctggcaaagAtgacatgccgttcacactca	11	9	8	13	1	3	2	3	1	0	1	4	2	4	2	2	1	2	3	2	1	1	1	novel		C3N-01413_TP	C3N-01413_NB	A	A																c.323T>C	p.Ile108Thr	p.I108T	ENST00000431828	3/21	272	247	25	260	260	0	strelka-varscan	KANSL3,missense_variant,p.Ile108Thr,ENST00000431828,NM_001115016.2;KANSL3,intron_variant,,ENST00000448075,;KANSL3,non_coding_transcript_exon_variant,,ENST00000487070,;KANSL3,non_coding_transcript_exon_variant,,ENST00000475820,;KANSL3,missense_variant,p.Ile108Thr,ENST00000420155,;KANSL3,missense_variant,p.Ile37Thr,ENST00000447759,;KANSL3,missense_variant,p.Ile108Thr,ENST00000597150,;KANSL3,missense_variant,p.Ile108Thr,ENST00000444759,;KANSL3,missense_variant,p.Ile108Thr,ENST00000451819,;KANSL3,missense_variant,p.Ile21Thr,ENST00000418735,;KANSL3,3_prime_UTR_variant,,ENST00000354204,;KANSL3,3_prime_UTR_variant,,ENST00000425656,;KANSL3,3_prime_UTR_variant,,ENST00000452268,;KANSL3,intron_variant,,ENST00000416138,;	G	ENST00000431828	Transcript	missense_variant	400/5153	323/2637	108/878	I/T	aTc/aCc		1		-1	KANSL3	HGNC	HGNC:25473	protein_coding	YES	CCDS46361.1	ENSP00000396749	Q9P2N6		UPI0000207C82	NM_001115016.2	tolerated(0.38)		3/21		hmmpanther:PTHR13136																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	76	96631375	96631375	A	G	1	0	0	0	0	1	0	0	0	7892	333	12	5		5	KANSL3	2	96631375	Missense_Mutation	SNP	A	C3N-01413_TP	41394725	96631375	145562154	9	24667											
MARCH7	0	.	GRCh38	chr2	159762956	159762956	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacaaagcttttctgataTgatgggaaatacaaatgaac	17	10	8	6	1	1	3	0	3	1	0	1	5	1	4	0	1	4	1	0	1	7	4	novel		C3N-01413_TP	C3N-01413_NB	T	T																c.1970T>C	p.Met657Thr	p.M657T	ENST00000259050	8/10	187	170	17	205	205	0	strelka-varscan	MARCH7,missense_variant,p.Met657Thr,ENST00000259050,NM_022826.3;MARCH7,missense_variant,p.Met601Thr,ENST00000539065,NM_001282806.1;MARCH7,missense_variant,p.Met657Thr,ENST00000409175,NM_001282805.1;MARCH7,missense_variant,p.Met619Thr,ENST00000409591,NM_001282807.1;MARCH7,missense_variant,p.Met90Thr,ENST00000420397,;MARCH7,non_coding_transcript_exon_variant,,ENST00000478396,;	C	ENST00000259050	Transcript	missense_variant	2092/5922	1970/2115	657/704	M/T	aTg/aCg		1		1	MARCH7	HGNC	HGNC:17393	protein_coding	YES	CCDS2210.1	ENSP00000259050	Q9H992		UPI00000733EE	NM_022826.3	deleterious(0)		8/10		hmmpanther:PTHR14471:SF1,hmmpanther:PTHR14471																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	76	159762956	159762956	T	C	1	0	0	0	0	1	0	0	0	9231	1464	51	5		5	MARCH7	2	159762956	Missense_Mutation	SNP	T	C3N-01413_TP	63131581	159762956	82430573	10	24668											
CHRNG	0	.	GRCh38	chr2	232542497	232542497	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccatcgagtggatttTcattgaccctgaggccttca	9	11	9	12	1	2	3	2	2	0	1	3	5	2	4	4	2	0	0	4	2	0	4	novel		C3N-01413_TP	C3N-01413_NB	T	T																c.581T>A	p.Phe194Tyr	p.F194Y	ENST00000389494	6/12	389	360	29	347	346	1	strelka-varscan-mutect	CHRNG,missense_variant,p.Phe194Tyr,ENST00000389494,NM_005199.4;CHRNG,missense_variant,p.Phe142Tyr,ENST00000389492,;CHRNG,downstream_gene_variant,,ENST00000485094,;	A	ENST00000389494	Transcript	missense_variant	602/2262	581/1554	194/517	F/Y	tTc/tAc		1		1	CHRNG	HGNC	HGNC:1967	protein_coding	YES	CCDS33400.1	ENSP00000374145	P07510		UPI000022BE9E	NM_005199.4	tolerated(1)		6/12		hmmpanther:PTHR18945:SF60,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932																	MODERATE	1	SNV	5			1										PASS		rs1403722602	.												A	3	1	76	232542497	232542497	T	A	1	0	0	0	0	1	0	0	0	3156	1783	62	4		4	CHRNG	2	232542497	Missense_Mutation	SNP	T	C3N-01413_TP	72779541	232542497	9651032	11	24669											
ITIH1	0	.	GRCh38	chr3	52784434	52784434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catggagaacaacggacgggCccagagaatctacgaggacc	14	3	13	11	3	1	2	0	0	1	2	1	7	1	4	2	4	3	0	2	4	4	1	novel		C3N-01413_TP	C3N-01413_NB	C	C																c.1364C>T	p.Ala455Val	p.A455V	ENST00000273283	11/22	181	156	25	139	138	1	strelka-varscan-mutect	ITIH1,missense_variant,p.Ala455Val,ENST00000273283,NM_002215.3,NM_001166434.2;ITIH1,missense_variant,p.Ala167Val,ENST00000537050,NM_001166435.2,NM_001166436.2;ITIH1,missense_variant,p.Ala8Val,ENST00000428133,;ITIH1,upstream_gene_variant,,ENST00000405128,;ITIH1,non_coding_transcript_exon_variant,,ENST00000628722,;ITIH1,downstream_gene_variant,,ENST00000487686,;ITIH1,downstream_gene_variant,,ENST00000478667,;ITIH1,downstream_gene_variant,,ENST00000480409,;ITIH1,upstream_gene_variant,,ENST00000482836,;ITIH1,downstream_gene_variant,,ENST00000494603,;ITIH1,upstream_gene_variant,,ENST00000484844,;	T	ENST00000273283	Transcript	missense_variant	1388/2911	1364/2736	455/911	A/V	gCc/gTc		1		1	ITIH1	HGNC	HGNC:6166	protein_coding	YES	CCDS2864.1	ENSP00000273283	P19827		UPI000012DA1C	NM_002215.3,NM_001166434.2	deleterious(0.03)		11/22		PROSITE_profiles:PS50234,hmmpanther:PTHR10338:SF106,hmmpanther:PTHR10338,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	76	52784434	52784434	C	T	1	0	0	0	0	1	0	0	0	7809	739	26	3		3	ITIH1	3	52784434	Missense_Mutation	SNP	C	C3N-01413_TP		52784434	145511125	12	24670											
SLMAP	0	.	GRCh38	chr3	57860792	57860792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaaagagtccctgaggcggGttcttcaggagaaaattgaa	13	8	12	8	1	2	4	1	2	1	2	3	5	3	4	2	3	0	1	2	3	4	3	novel		C3N-01413_TP	C3N-01413_NB	G	G																c.781G>C	p.Val261Leu	p.V261L	ENST00000428312	8/22	204	175	29	236	236	0	strelka-varscan-mutect	SLMAP,missense_variant,p.Val261Leu,ENST00000383718,;SLMAP,missense_variant,p.Val261Leu,ENST00000295951,;SLMAP,missense_variant,p.Val261Leu,ENST00000295952,NM_007159.3;SLMAP,missense_variant,p.Val261Leu,ENST00000428312,NM_001304420.1;SLMAP,missense_variant,p.Val261Leu,ENST00000449503,NM_001304421.1;SLMAP,upstream_gene_variant,,ENST00000416658,;SLMAP,upstream_gene_variant,,ENST00000465203,;SLMAP,upstream_gene_variant,,ENST00000475055,;SLMAP,non_coding_transcript_exon_variant,,ENST00000467901,;	C	ENST00000428312	Transcript	missense_variant	875/4132	781/2487	261/828	V/L	Gtt/Ctt		1		1	SLMAP	HGNC	HGNC:16643	protein_coding	YES	CCDS77757.1	ENSP00000398661	Q14BN4		UPI00005796CD	NM_001304420.1	tolerated(0.15)		8/22		hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	76	57860792	57860792	G	C	1	0	0	0	0	1	0	0	0	15040	1261	44	4		4	SLMAP	3	57860792	Missense_Mutation	SNP	G	C3N-01413_TP	5076358	57860792	140434767	13	24671											
DCBLD2	0	.	GRCh38	chr3	98901239	98901239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggagcgggagagggggaGcgcggcccaggcgggggcgg	6	0	27	8	5	0	1	0	0	0	1	0	5	0	3	1	9	2	0	1	9	0	0	rs190637453		C3N-01413_TP	C3N-01413_NB	G	G																c.88C>T	p.Leu30Phe	p.L30F	ENST00000326840	1/16	171	150	21	143	143	0	strelka-varscan-mutect	DCBLD2,missense_variant,p.Leu30Phe,ENST00000326840,NM_080927.3;DCBLD2,missense_variant,p.Leu30Phe,ENST00000326857,;DCBLD2,upstream_gene_variant,,ENST00000449482,;CTD-2021J15.1,upstream_gene_variant,,ENST00000474798,;DCBLD2,upstream_gene_variant,,ENST00000469648,;	A	ENST00000326840	Transcript	missense_variant	451/6122	88/2328	30/775	L/F	Ctc/Ttc	rs190637453	1		-1	DCBLD2	HGNC	HGNC:24627	protein_coding	YES	CCDS46878.1	ENSP00000321573	Q96PD2		UPI0000072ABB	NM_080927.3	deleterious_low_confidence(0)		1/16		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs190637453	.												A	3	1	76	98901239	98901239	G	A	1	0	0	0	0	1	0	0	0	4083	971	34	3		3	DCBLD2	3	98901239	Missense_Mutation	SNP	G	C3N-01413_TP	41040447	98901239	99394320	14	24672											
ATR	0	.	GRCh38	chr3	142556086	142556086	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtacagacaagttgaccaAgtatagaagcaaattctttc	16	10	8	7	0	1	3	0	1	1	2	2	4	1	3	1	0	2	4	1	0	7	6	novel		C3N-01413_TP	C3N-01413_NB	A	A																c.2132T>G	p.Leu711Arg	p.L711R	ENST00000350721	10/47	185	171	14	186	185	1	strelka-varscan-mutect	ATR,missense_variant,p.Leu711Arg,ENST00000350721,NM_001184.3;ATR,downstream_gene_variant,,ENST00000515149,;ATR,non_coding_transcript_exon_variant,,ENST00000515863,;ATR,downstream_gene_variant,,ENST00000507148,;	C	ENST00000350721	Transcript	missense_variant	2254/8249	2132/7935	711/2644	L/R	cTt/cGt		1		-1	ATR	HGNC	HGNC:882	protein_coding	YES	CCDS3124.1	ENSP00000343741	Q13535		UPI0000031A31	NM_001184.3	deleterious(0.01)		10/47		Gene3D:1.25.10.10,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF69,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	76	142556086	142556086	A	C	1	0	0	0	0	1	0	0	0	1356	72	3	5		5	ATR	3	142556086	Missense_Mutation	SNP	A	C3N-01413_TP	43654847	142556086	55739473	15	24673											
SHOX2	0	.	GRCh38	chr3	158105829	158105829	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccgccgcctccgcctcCtccgccgccgcctccgccgg	0	5	10	26	9	0	0	0	0	0	0	5	0	5	0	13	1	0	0	13	1	0	0	novel		C3N-01413_TP	C3N-01413_NB	C	C																c.196G>T	p.Gly66Ter	p.G66*	ENST00000389589	1/6	131	124	7	103	103	0	varscan-mutect	SHOX2,stop_gained,p.Gly66Ter,ENST00000441443,NM_006884.3;SHOX2,stop_gained,p.Gly66Ter,ENST00000389589,NM_003030.4;SHOX2,stop_gained,p.Gly66Ter,ENST00000483851,NM_001163678.1;RSRC1,upstream_gene_variant,,ENST00000464171,;RSRC1,upstream_gene_variant,,ENST00000611884,NM_001271838.1;RSRC1,upstream_gene_variant,,ENST00000295930,NM_016625.3;SHOX2,upstream_gene_variant,,ENST00000425436,;RSRC1,upstream_gene_variant,,ENST00000312179,NM_001271834.1;RSRC1,upstream_gene_variant,,ENST00000480820,;RSRC1,upstream_gene_variant,,ENST00000475278,;RSRC1,upstream_gene_variant,,ENST00000476899,;RSRC1,upstream_gene_variant,,ENST00000471994,;RSRC1,upstream_gene_variant,,ENST00000494002,;SHOX2,upstream_gene_variant,,ENST00000554685,;RSRC1,upstream_gene_variant,,ENST00000471911,;RSRC1,upstream_gene_variant,,ENST00000468344,;SHOX2,upstream_gene_variant,,ENST00000490689,;RSRC1,upstream_gene_variant,,ENST00000480119,;	A	ENST00000389589	Transcript	stop_gained	332/2072	196/1068	66/355	G/*	Gga/Tga		1		-1	SHOX2	HGNC	HGNC:10854	protein_coding	YES	CCDS33884.2	ENSP00000374240	O60902		UPI0000169EC9	NM_003030.4			1/6		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF290,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	76	158105829	158105829	C	A	1	0	0	0	0	0	1	0	0	14552	690	24	2		2	SHOX2	3	158105829	Nonsense_Mutation	SNP	C	C3N-01413_TP	15549743	158105829	40189730	16	24674											
SLC34A2	0	.	GRCh38	chr4	25667891	25667891	+	Frame_Shift_Del	DEL	C	C	-																															atcctctagtgctcactgttCgggctgccatccccattatc																								rs552759498		C3N-01413_TP	C3N-01413_NB	C	C																c.535delC	p.Arg179GlyfsTer66	p.R179Gfs*66	ENST00000382051	6/13	369	338	31	386	386	0	sindel-varindel-pindel	SLC34A2,frameshift_variant,p.Arg179GlyfsTer66,ENST00000382051,NM_006424.2;SLC34A2,frameshift_variant,p.Arg178GlyfsTer66,ENST00000503434,NM_001177999.1;SLC34A2,frameshift_variant,p.Arg178GlyfsTer66,ENST00000504570,NM_001177998.1;SLC34A2,downstream_gene_variant,,ENST00000507530,;SLC34A2,downstream_gene_variant,,ENST00000513204,;SLC34A2,non_coding_transcript_exon_variant,,ENST00000510033,;	-	ENST00000382051	Transcript	frameshift_variant	585/4122	535/2073	179/690	R/X	Cgg/gg	rs552759498,COSM1226285	1		1	SLC34A2	HGNC	HGNC:11020	protein_coding	YES	CCDS3435.1	ENSP00000371483	O95436		UPI000013DF24	NM_006424.2			6/13		hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF23,Pfam_domain:PF02690,TIGRFAM_domain:TIGR01013											0,1						HIGH	1	deletion	1		0,1	1										PASS		.	.												-	7	5	76	25667891	25667891	C	-	1	0	1	0	1	0	0	0	0	14838	875	31	0		0	SLC34A2	4	25667891	Frame_Shift_Del	DEL	C	C3N-01413_TP		25667891	164546664	17	24675											
CWH43	0	.	GRCh38	chr4	49017282	49017282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttggtgtgggattgttggGattaggactacggcataaag	9	13	16	3	1	0	0	0	0	0	0	0	3	0	3	0	5	1	3	0	5	4	6	rs765646676		C3N-01413_TP	C3N-01413_NB	G	G																c.1220G>T	p.Gly407Val	p.G407V	ENST00000226432	9/16	174	159	15	180	179	1	strelka-varscan-mutect	CWH43,missense_variant,p.Gly407Val,ENST00000226432,NM_025087.2;CWH43,missense_variant,p.Gly380Val,ENST00000513409,NM_001286791.1;CWH43,3_prime_UTR_variant,,ENST00000514053,;CWH43,non_coding_transcript_exon_variant,,ENST00000506221,;TPI1P4,upstream_gene_variant,,ENST00000513630,;	T	ENST00000226432	Transcript	missense_variant	1403/2472	1220/2100	407/699	G/V	gGa/gTa	rs765646676	1		1	CWH43	HGNC	HGNC:26133	protein_coding	YES	CCDS3486.1	ENSP00000226432	Q9H720		UPI000020BC89	NM_025087.2	deleterious(0.01)		9/16		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR14859,hmmpanther:PTHR14859:SF1																	MODERATE	1	SNV	1			1										PASS		rs765646676	.												T	3	4	76	49017282	49017282	G	T	1	0	0	0	0	1	0	0	0	3883	1174	41	2		2	CWH43	4	49017282	Missense_Mutation	SNP	G	C3N-01413_TP	23349391	49017282	141197273	18	24676											
NPY1R	0	.	GRCh38	chr4	163326127	163326127	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccaccctcgagggttgAttatcagctgatgtcgttcc	6	13	10	12	2	2	2	1	2	1	0	6	3	3	2	3	1	1	3	3	1	1	3	novel		C3N-01413_TP	C3N-01413_NB	A	A																c.428T>G	p.Ile143Ser	p.I143S	ENST00000296533	2/3	326	298	28	377	377	0	strelka-varscan-mutect	NPY1R,missense_variant,p.Ile143Ser,ENST00000296533,NM_000909.5;NPY1R,5_prime_UTR_variant,,ENST00000512819,;NPY1R,intron_variant,,ENST00000509586,;NPY1R,intron_variant,,ENST00000504391,;NPY1R,downstream_gene_variant,,ENST00000515701,;NPY1R,downstream_gene_variant,,ENST00000511901,;NPY1R,downstream_gene_variant,,ENST00000504790,;	C	ENST00000296533	Transcript	missense_variant	960/3029	428/1155	143/384	I/S	aTc/aGc		1		-1	NPY1R	HGNC	HGNC:7956	protein_coding	YES	CCDS34089.1	ENSP00000354652	P25929		UPI000002D509	NM_000909.5	deleterious(0)		2/3		PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF222,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	76	163326127	163326127	A	C	1	0	0	0	0	1	0	0	0	10663	333	12	5		5	NPY1R	4	163326127	Missense_Mutation	SNP	A	C3N-01413_TP	114308845	163326127	26888428	19	24677											
SLC1A3	0	.	GRCh38	chr5	36683939	36683939	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactatggtcattgtgctGacatctgtcggcctgcccac	6	12	10	13	1	3	1	2	1	1	0	4	1	3	1	2	2	2	1	2	2	1	2	novel		C3N-01413_TP	C3N-01413_NB	G	G																c.1365G>T	p.=	p.L455L	ENST00000265113	9/10	465	438	27	350	350	0	strelka-varscan-mutect	SLC1A3,synonymous_variant,p.=,ENST00000265113,NM_004172.4;SLC1A3,synonymous_variant,p.=,ENST00000613445,NM_001289939.1;SLC1A3,synonymous_variant,p.=,ENST00000612708,NM_001289940.1;SLC1A3,intron_variant,,ENST00000381918,NM_001166695.2;CTD-2353F22.1,intron_variant,,ENST00000510740,;SLC1A3,non_coding_transcript_exon_variant,,ENST00000506178,;	T	ENST00000265113	Transcript	synonymous_variant	1841/4170	1365/1629	455/542	L	ctG/ctT		1		1	SLC1A3	HGNC	HGNC:10941	protein_coding	YES	CCDS3919.1	ENSP00000265113	P43003	A0A024R050	UPI0000129B0F	NM_004172.4			9/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF24,Gene3D:2nwlC00,Pfam_domain:PF00375,Superfamily_domains:0053221,Prints_domain:PR00173																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	76	36683939	36683939	G	T	1	0	0	0	0	0	0	0	1	14699	1277	45	2		2	SLC1A3	5	36683939	Silent	SNP	G	C3N-01413_TP		36683939	144854320	20	24678											
TNFRSF21	0	.	GRCh38	chr6	47286549	47286549	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgtgccaatgagattcGaggccttctgttctggctga	7	13	13	8	1	2	2	0	2	2	1	3	4	2	2	2	3	1	3	2	3	2	4	rs566872069		C3N-01413_TP	C3N-01413_NB	G	G																c.143C>A	p.Ser48Ter	p.S48*	ENST00000296861	2/6	101	85	16	87	87	0	strelka-varscan-mutect	TNFRSF21,stop_gained,p.Ser48Ter,ENST00000296861,NM_014452.4;	T	ENST00000296861	Transcript	stop_gained	537/3595	143/1968	48/655	S/*	tCg/tAg	rs566872069	1		-1	TNFRSF21	HGNC	HGNC:13469	protein_coding	YES	CCDS4921.1	ENSP00000296861	O75509	A0A024RD71	UPI000004680F	NM_014452.4			2/6		hmmpanther:PTHR23097:SF127,hmmpanther:PTHR23097																	HIGH	1	SNV	1			1										PASS		rs566872069	.												T	4	4	76	47286549	47286549	G	T	1	0	0	0	0	0	1	0	0	16769	1059	37	1		1	TNFRSF21	6	47286549	Nonsense_Mutation	SNP	G	C3N-01413_TP		47286549	123519430	21	24679											
DST	0	.	GRCh38	chr6	56592199	56592199	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttggtctcttctaattGcctttgaagatttttggggt	6	19	9	7	0	2	2	0	1	2	1	3	2	2	2	2	3	2	0	2	3	3	8	novel		C3N-01413_TP	C3N-01413_NB	G	G																c.6115C>T	p.Gln2039Ter	p.Q2039*	ENST00000312431	41/95	489	450	39	396	396	0	strelka-varscan	DST,stop_gained,p.Gln4085Ter,ENST00000361203,;DST,stop_gained,p.Gln1999Ter,ENST00000421834,NM_183380.3;DST,stop_gained,p.Gln2039Ter,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,stop_gained,p.Gln1999Ter,ENST00000370788,;DST,stop_gained,p.Gln1673Ter,ENST00000244364,NM_015548.4;DST,stop_gained,p.Gln333Ter,ENST00000518398,;	A	ENST00000312431	Transcript	stop_gained	6241/17756	6115/16614	2039/5537	Q/*	Caa/Taa		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1			41/95		hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	76	56592199	56592199	G	A	1	0	0	0	0	0	1	0	0	4604	1328	46	3		3	DST	6	56592199	Nonsense_Mutation	SNP	G	C3N-01413_TP	9305650	56592199	114213780	22	24680											
EGFR	0	.	GRCh38	chr7	55174772	55174786	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-																															aaaattcccgtcgctatcaaGgaattaagagaagcaacatc																								rs121913421		C3N-01413_TP	C3N-01413_NB	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC																c.2235_2249delGGAATTAAGAGAAGC	p.Glu746_Ala750del	p.E746_A750del	ENST00000275493	19/28	472	344	128	498	498	0	sindel-varindel-pindel	EGFR,inframe_deletion,p.Glu746_Ala750del,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000454757,;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	-	ENST00000275493	Transcript	inframe_deletion	2412-2426/9821	2235-2249/3633	745-750/1210	KELREA/K	aaGGAATTAAGAGAAGCa/aaa	rs121913421,COSM6223	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1						MODERATE	1	deletion	1		1,1	1										PASS		.	.												-	7	5	76	55174772	55174772	GGAATTAAGAGAAGC	-	1	0	1	0	1	0	0	0	0	4803	991	35	0		0	EGFR	7	55174772	In_Frame_Del	DEL	GGAATTAAGAGAAGC	C3N-01413_TP		55174772	104171201	23	24681											
NOBOX	0	.	GRCh38	chr7	144401231	144401231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgagttaggggcacccGgagatgatgttggggccaga	8	7	19	7	1	0	4	0	2	0	2	0	5	0	4	2	6	0	4	2	6	1	2	rs750862438		C3N-01413_TP	C3N-01413_NB	G	G																c.659C>T	p.Pro220Leu	p.P220L	ENST00000467773	4/10	237	225	12	191	191	0	strelka-mutect	NOBOX,missense_variant,p.Pro220Leu,ENST00000467773,NM_001080413.3;NOBOX,missense_variant,p.Pro220Leu,ENST00000483238,;	A	ENST00000467773	Transcript	missense_variant	659/2076	659/2076	220/691	P/L	cCg/cTg	rs750862438,COSM5062274,COSM5062275	1		-1	NOBOX	HGNC	HGNC:22448	protein_coding	YES		ENSP00000419457	O60393		UPI00019B220B	NM_001080413.3	deleterious(0.03)		4/10													0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs750862438	.												A	3	1	76	144401231	144401231	G	A	1	0	0	0	0	1	0	0	0	10554	1116	39	1		1	NOBOX	7	144401231	Missense_Mutation	SNP	G	C3N-01413_TP	89226459	144401231	14944742	24	24682											
SMARCA2	0	.	GRCh38	chr9	2047332	2047332	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcagccgcgcagccgccCgcggccgcagtgcccgggcc	3	1	15	22	8	0	0	0	0	0	0	0	0	0	0	7	2	3	3	7	2	0	0	novel		C3N-01413_TP	C3N-01413_NB	C	C																c.894C>T	p.=	p.P298P	ENST00000382203	5/34	52	46	6	18	18	0	strelka-mutect	SMARCA2,synonymous_variant,p.=,ENST00000382203,NM_001289396.1;SMARCA2,synonymous_variant,p.=,ENST00000357248,NM_139045.3;SMARCA2,synonymous_variant,p.=,ENST00000349721,NM_003070.4;SMARCA2,synonymous_variant,p.=,ENST00000382194,;SMARCA2,synonymous_variant,p.=,ENST00000450198,NM_001289397.1;SMARCA2,synonymous_variant,p.=,ENST00000635226,;SMARCA2,downstream_gene_variant,,ENST00000637806,;SMARCA2,downstream_gene_variant,,ENST00000636559,;SMARCA2,downstream_gene_variant,,ENST00000637103,;SMARCA2,downstream_gene_variant,,ENST00000636903,;RP11-264I13.2,upstream_gene_variant,,ENST00000426860,;SMARCA2,synonymous_variant,p.=,ENST00000634760,;	T	ENST00000382203	Transcript	synonymous_variant	1103/5867	894/4773	298/1590	P	ccC/ccT		1		1	SMARCA2	HGNC	HGNC:11098	protein_coding	YES	CCDS34977.1	ENSP00000371638	P51531		UPI00001AE8EB	NM_001289396.1			5/34		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF541,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	76	2047332	2047332	C	T	1	0	0	0	0	0	0	0	1	15062	639	23	1		1	SMARCA2	9	2047332	Silent	SNP	C	C3N-01413_TP		2047332	136347385	25	24683											
KIF24	0	.	GRCh38	chr9	34306372	34306372	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctccctcatgcccaggggGcgttttcgaacacaaactct	9	9	8	15	2	2	0	1	0	1	0	4	1	3	0	3	2	3	1	3	2	2	2	novel		C3N-01413_TP	C3N-01413_NB	G	G																c.693C>T	p.=	p.R231R	ENST00000402558	2/12	143	129	14	153	152	1	strelka-varscan-mutect	KIF24,synonymous_variant,p.=,ENST00000402558,NM_194313.2;KIF24,synonymous_variant,p.=,ENST00000379174,;	A	ENST00000402558	Transcript	synonymous_variant	718/6131	693/4107	231/1368	R	cgC/cgT		1		-1	KIF24	HGNC	HGNC:19916	protein_coding	YES	CCDS6551.2	ENSP00000384433	Q5T7B8		UPI00004F9D23	NM_194313.2			2/12		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF410,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	76	34306372	34306372	G	A	1	0	0	0	0	0	0	0	1	8157	1190	42	3		3	KIF24	9	34306372	Silent	SNP	G	C3N-01413_TP	32259040	34306372	104088345	26	24684											
CYP2C8	0	.	GRCh38	chr10	95038923	95038923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggcatgaagtagtcaCttttcttaaagttgccattc	13	13	8	7	0	2	2	1	1	1	1	3	2	2	2	1	1	1	3	1	1	5	6	novel		C3N-01413_TP	C3N-01413_NB	C	C																c.1265G>A	p.Ser422Asn	p.S422N	ENST00000371270	8/9	299	262	37	319	319	0	strelka-mutect	CYP2C8,missense_variant,p.Ser352Asn,ENST00000539050,NM_001198855.1;CYP2C8,missense_variant,p.Ser352Asn,ENST00000623108,NM_001198853.1;CYP2C8,missense_variant,p.Ser422Asn,ENST00000371270,NM_000770.3;CYP2C8,missense_variant,p.Ser320Asn,ENST00000535898,NM_001198854.1;CYP2C8,downstream_gene_variant,,ENST00000628935,;CYP2C8,3_prime_UTR_variant,,ENST00000490994,;CYP2C8,3_prime_UTR_variant,,ENST00000527420,;CYP2C8,3_prime_UTR_variant,,ENST00000525991,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000527953,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000526814,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000533320,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000531714,;CYP2C8,downstream_gene_variant,,ENST00000479946,;	T	ENST00000371270	Transcript	missense_variant	1360/1923	1265/1473	422/490	S/N	aGt/aAt		1		-1	CYP2C8	HGNC	HGNC:2622	protein_coding	YES	CCDS7438.1	ENSP00000360317	P10632		UPI0000128256	NM_000770.3	tolerated(0.14)		8/9		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF187,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	76	95038923	95038923	C	T	1	0	0	0	0	1	0	0	0	3970	565	20	3		3	CYP2C8	10	95038923	Missense_Mutation	SNP	C	C3N-01413_TP		95038923	38758499	27	24685											
CCDC186	0	.	GRCh38	chr10	114157577	114157577	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaattgtgttcatatgctGcttctcagtttctgttcttt	5	23	6	7	0	4	0	2	0	3	0	5	0	4	0	0	0	2	5	0	0	2	9	novel		C3N-01413_TP	C3N-01413_NB	G	G																c.736C>T	p.Gln246Ter	p.Q246*	ENST00000369287	3/16	183	173	10	227	227	0	strelka-mutect	CCDC186,stop_gained,p.Gln246Ter,ENST00000369287,NM_001321829.1,NM_018017.2;CCDC186,downstream_gene_variant,,ENST00000369285,NM_153249.1;CCDC186,downstream_gene_variant,,ENST00000369286,;	A	ENST00000369287	Transcript	stop_gained	1003/7245	736/2697	246/898	Q/*	Cag/Tag		1		-1	CCDC186	HGNC	HGNC:24349	protein_coding	YES	CCDS7587.1	ENSP00000358293	Q7Z3E2		UPI00001D3EF5	NM_001321829.1,NM_018017.2			3/16		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18911																	HIGH	1	SNV	1			1										PASS		rs1467549823	.												A	4	1	76	114157577	114157577	G	A	1	0	0	0	0	0	1	0	0	2502	1328	46	3		3	CCDC186	10	114157577	Nonsense_Mutation	SNP	G	C3N-01413_TP	19118654	114157577	19639845	28	24686											
TACC2	0	.	GRCh38	chr10	122143587	122143588	+	Frame_Shift_Ins	INS	-	-	G																															ccagcatctccccagctgctINSgcccatgcgggtcttcctcc																								novel		C3N-01413_TP	C3N-01413_NB	-	-																c.5716dupG	p.Ala1906GlyfsTer22	p.A1906Gfs*22	ENST00000369005	7/23	131	105	26	123	123	0	sindel-varindel-pindel	TACC2,frameshift_variant,p.Ala1906GlyfsTer22,ENST00000369005,NM_206862.3;TACC2,frameshift_variant,p.Ala1906GlyfsTer22,ENST00000334433,;TACC2,intron_variant,,ENST00000515273,NM_001291877.1;TACC2,intron_variant,,ENST00000453444,;TACC2,intron_variant,,ENST00000515603,NM_001291876.1;TACC2,intron_variant,,ENST00000513429,NM_206861.2;TACC2,intron_variant,,ENST00000358010,;TACC2,intron_variant,,ENST00000369000,;TACC2,intron_variant,,ENST00000369001,NM_001291879.1;TACC2,non_coding_transcript_exon_variant,,ENST00000493951,;TACC2,intron_variant,,ENST00000492237,;	G	ENST00000369005	Transcript	frameshift_variant	6055-6056/9673	5715-5716/8847	1905-1906/2948	-/X	-/G		1		1	TACC2	HGNC	HGNC:11523	protein_coding	YES	CCDS7626.1	ENSP00000358001	O95359		UPI0000246F6B	NM_206862.3			7/23		Low_complexity_(Seg):seg,hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11																	HIGH	1	insertion	1	1		1										PASS		.	.												G	7	5	76	122143587	122143587	-	G	1	0	1	1	0	0	0	0	0	15898	1567	55	0		0	TACC2	10	122143587	Frame_Shift_Ins	INS	-	C3N-01413_TP	7986010	122143587	11653835	29	24687											
UCP2	0	.	GRCh38	chr11	73978074	73978074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctggctgtagcgcgcactGgcccctgactttctccttgg	3	11	12	15	3	1	1	0	1	1	0	2	1	1	1	3	3	1	4	3	3	1	3	rs562888818		C3N-01413_TP	C3N-01413_NB	G	G																c.149C>G	p.Pro50Arg	p.P50R	ENST00000310473	4/8	273	256	17	253	252	1	strelka-varscan-mutect	UCP2,missense_variant,p.Pro50Arg,ENST00000310473,NM_003355.2;UCP2,missense_variant,p.Pro50Arg,ENST00000536983,;UCP2,missense_variant,p.Pro23Arg,ENST00000544615,;UCP2,downstream_gene_variant,,ENST00000539764,;UCP2,upstream_gene_variant,,ENST00000545212,;UCP2,downstream_gene_variant,,ENST00000542615,;UCP2,downstream_gene_variant,,ENST00000541027,;UCP2,downstream_gene_variant,,ENST00000539330,;UCP2,downstream_gene_variant,,ENST00000543714,;UCP2,upstream_gene_variant,,ENST00000545562,;	C	ENST00000310473	Transcript	missense_variant	992/2113	149/930	50/309	P/R	cCa/cGa	rs562888818	1		-1	UCP2	HGNC	HGNC:12518	protein_coding	YES	CCDS8228.1	ENSP00000312029	P55851	A0A024R5N5	UPI000003627C	NM_003355.2	tolerated(0.1)		4/8		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,Prints_domain:PR00784,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF167																	MODERATE	1	SNV	1			1										PASS		rs562888818	.												C	3	2	76	73978074	73978074	G	C	1	0	0	0	0	1	0	0	0	17455	1348	47	4		4	UCP2	11	73978074	Missense_Mutation	SNP	G	C3N-01413_TP		73978074	61108548	30	24688											
PANX3	0	.	GRCh38	chr11	124611647	124611647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcctcaaaggactgcgtctgGaactgcccctggaccggata	9	7	12	13	2	2	0	1	0	1	0	2	4	2	4	4	4	3	0	4	4	3	1			C3N-01413_TP	C3N-01413_NB	G	G																c.91G>A	p.Glu31Lys	p.E31K	ENST00000284288	1/4	214	200	14	164	164	0	strelka-varscan-mutect	PANX3,missense_variant,p.Glu31Lys,ENST00000284288,NM_052959.2;	A	ENST00000284288	Transcript	missense_variant	158/1667	91/1179	31/392	E/K	Gaa/Aaa	COSM3444840	1		1	PANX3	HGNC	HGNC:20573	protein_coding	YES	CCDS8447.1	ENSP00000284288	Q96QZ0		UPI0000131264	NM_052959.2	deleterious(0)		1/4		PROSITE_profiles:PS51013,hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF3											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	76	124611647	124611647	G	A	1	0	0	0	0	1	0	0	0	11503	1175	41	3		3	PANX3	11	124611647	Missense_Mutation	SNP	G	C3N-01413_TP	50633573	124611647	10474975	31	24689											
TMEM132D	0	.	GRCh38	chr12	129699891	129699891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttcctcacggtctttGgtatatagtggatggccacg	6	14	10	11	2	2	0	1	0	1	0	4	1	4	1	3	4	0	1	3	4	3	5	novel		C3N-01413_TP	C3N-01413_NB	G	G																c.887C>T	p.Pro296Leu	p.P296L	ENST00000422113	2/9	273	252	21	277	277	0	strelka-varscan-mutect	TMEM132D,missense_variant,p.Pro296Leu,ENST00000422113,NM_133448.2;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;	A	ENST00000422113	Transcript	missense_variant	1214/5776	887/3300	296/1099	P/L	cCa/cTa		1		-1	TMEM132D	HGNC	HGNC:29411	protein_coding	YES	CCDS9266.1	ENSP00000408581	Q14C87		UPI000023759C	NM_133448.2	tolerated(0.2)		2/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	76	129699891	129699891	G	A	1	0	0	0	0	1	0	0	0	16492	1348	47	3		3	TMEM132D	12	129699891	Missense_Mutation	SNP	G	C3N-01413_TP		129699891	3575418	32	24690											
MGA	0	.	GRCh38	chr15	41762210	41762210	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggcacaaaaaagaaaaaAgaagatgggatcagatgagt	22	4	12	3	0	1	6	1	1	0	5	1	7	1	7	0	2	0	1	0	2	7	0	novel		C3N-01413_TP	C3N-01413_NB	A	A																c.7592A>C	p.Lys2531Thr	p.K2531T	ENST00000219905	22/24	326	282	44	341	341	0	strelka-varscan-mutect	MGA,missense_variant,p.Lys2322Thr,ENST00000566586,;MGA,missense_variant,p.Lys2531Thr,ENST00000219905,NM_001164273.1;MGA,missense_variant,p.Lys2531Thr,ENST00000570161,;MGA,missense_variant,p.Lys2322Thr,ENST00000545763,NM_001080541.2;MGA,downstream_gene_variant,,ENST00000564190,;MGA,non_coding_transcript_exon_variant,,ENST00000568255,;	C	ENST00000219905	Transcript	missense_variant	7773/12042	7592/9198	2531/3065	K/T	aAg/aCg		1		1	MGA	HGNC	HGNC:14010	protein_coding	YES	CCDS55959.1	ENSP00000219905	Q8IWI9		UPI0001B2337E	NM_001164273.1	deleterious(0)		22/24		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	76	41762210	41762210	A	C	1	0	0	0	0	1	0	0	0	9498	72	3	5		5	MGA	15	41762210	Missense_Mutation	SNP	A	C3N-01413_TP		41762210	60228979	33	24691											
MYO5C	0	.	GRCh38	chr15	52224946	52224946	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaaccaaagttctccaTcctcatttaaatgttccaga	15	11	4	11	0	2	1	1	0	1	1	5	1	4	1	4	0	2	3	4	0	5	4	novel		C3N-01413_TP	C3N-01413_NB	T	T																c.3401A>T	p.Asp1134Val	p.D1134V	ENST00000261839	28/41	270	253	17	342	341	1	strelka-varscan-mutect	MYO5C,missense_variant,p.Asp1134Val,ENST00000261839,NM_018728.3;MYO5C,3_prime_UTR_variant,,ENST00000560809,;MYO5C,downstream_gene_variant,,ENST00000558902,;	A	ENST00000261839	Transcript	missense_variant	3563/6971	3401/5229	1134/1742	D/V	gAt/gTt		1		-1	MYO5C	HGNC	HGNC:7604	protein_coding	YES	CCDS42036.1	ENSP00000261839	Q9NQX4		UPI000013D20E	NM_018728.3	tolerated(0.08)		28/41		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	76	52224946	52224946	T	A	1	0	0	0	0	1	0	0	0	10081	1435	50	4		4	MYO5C	15	52224946	Missense_Mutation	SNP	T	C3N-01413_TP	10462736	52224946	49766243	34	24692											
IGDCC4	0	.	GRCh38	chr15	65386002	65386002	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggggccaagccgagctctGgagtacagcgcgggattccc	7	5	17	12	3	1	0	0	0	1	0	2	3	2	2	3	5	4	2	3	5	2	2	novel		C3N-01413_TP	C3N-01413_NB	G	G																c.3009C>T	p.=	p.S1003S	ENST00000352385	18/20	78	71	7	97	97	0	strelka-varscan-mutect	IGDCC4,synonymous_variant,p.=,ENST00000352385,NM_020962.2;IGDCC4,upstream_gene_variant,,ENST00000558048,;IGDCC4,non_coding_transcript_exon_variant,,ENST00000559327,;IGDCC4,non_coding_transcript_exon_variant,,ENST00000560319,;IGDCC4,non_coding_transcript_exon_variant,,ENST00000561309,;	A	ENST00000352385	Transcript	synonymous_variant	3219/6508	3009/3753	1003/1250	S	tcC/tcT		1		-1	IGDCC4	HGNC	HGNC:13770	protein_coding	YES	CCDS10206.1	ENSP00000319623	Q8TDY8		UPI000006F31C	NM_020962.2			18/20		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF40																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	76	65386002	65386002	G	A	1	0	0	0	0	0	0	0	1	7475	1335	47	3		3	IGDCC4	15	65386002	Silent	SNP	G	C3N-01413_TP	13161056	65386002	36605187	35	24693											
GPR139	0	.	GRCh38	chr16	20031900	20031900	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttgaagaaagccttgagCgtggcggctgccatggtgcg	8	8	15	10	3	0	3	0	2	0	1	0	3	0	3	2	3	4	1	2	3	2	2	rs758294318		C3N-01413_TP	C3N-01413_NB	C	C																c.897G>A	p.=	p.T299T	ENST00000570682	2/2	405	376	29	354	354	0	strelka-varscan-mutect	GPR139,synonymous_variant,p.=,ENST00000570682,NM_001002911.2;GPR139,3_prime_UTR_variant,,ENST00000326571,;	T	ENST00000570682	Transcript	synonymous_variant	1198/1613	897/1062	299/353	T	acG/acA	rs758294318,COSM471421,COSM5251403	1		-1	GPR139	HGNC	HGNC:19995	protein_coding	YES	CCDS32398.1	ENSP00000458791	Q6DWJ6	A0A142CHG1	UPI000004C566	NM_001002911.2			2/2		hmmpanther:PTHR22751,hmmpanther:PTHR22751:SF49,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs758294318	.												T	2	4	76	20031900	20031900	C	T	1	0	0	0	0	0	0	0	1	6534	755	27	1		1	GPR139	16	20031900	Silent	SNP	C	C3N-01413_TP		20031900	70306445	36	24694											
RP11-566K11.2	0	.	GRCh38	chr16	89919426	89919426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgagcttggtggagaaCgcgctggtggtggccaccat	6	9	17	9	2	0	2	0	1	0	1	0	3	0	2	2	6	2	2	2	6	1	1	rs373707533		C3N-01413_TP	C3N-01413_NB	C	C																c.168C>T	p.=	p.N56N	ENST00000555147	1/1	294	276	18	246	246	0	strelka-varscan-mutect	MC1R,synonymous_variant,p.=,ENST00000555427,;MC1R,synonymous_variant,p.=,ENST00000555147,NM_002386.3;RP11-566K11.2,synonymous_variant,p.=,ENST00000556922,;TUBB3,upstream_gene_variant,,ENST00000554444,NM_001197181.1;TUBB3,upstream_gene_variant,,ENST00000315491,NM_006086.3;TUBB3,upstream_gene_variant,,ENST00000554336,;TUBB3,upstream_gene_variant,,ENST00000555810,;TUBB3,upstream_gene_variant,,ENST00000553967,;TUBB3,upstream_gene_variant,,ENST00000555576,;TUBB3,upstream_gene_variant,,ENST00000625617,;TUBB3,upstream_gene_variant,,ENST00000556565,;RP11-566K11.4,downstream_gene_variant,,ENST00000554623,;TUBB3,upstream_gene_variant,,ENST00000554116,;MC1R,downstream_gene_variant,,ENST00000539976,;TUBB3,upstream_gene_variant,,ENST00000555609,;TUBB3,upstream_gene_variant,,ENST00000556536,;TUBB3,upstream_gene_variant,,ENST00000557262,;TUBB3,upstream_gene_variant,,ENST00000557490,;TUBB3,upstream_gene_variant,,ENST00000554927,;RP11-566K11.7,downstream_gene_variant,,ENST00000570217,;TUBB3,upstream_gene_variant,,ENST00000553656,;	T	ENST00000555147	Transcript	synonymous_variant	1548/3099	168/954	56/317	N	aaC/aaT	rs373707533,COSM2923832	1		1	MC1R	HGNC	HGNC:6929	protein_coding	YES	CCDS56011.1	ENSP00000451605	Q01726	Q1JUL4	UPI00000622C3	NM_002386.3			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF2,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237											0,1						LOW		SNV			0,1	1										PASS		rs373707533	.												T	2	4	76	89919426	89919426	C	T	1	0	0	0	0	0	0	0	1	13753	535	19	1		1	RP11-566K11.2	16	89919426	Silent	SNP	C	C3N-01413_TP	69887526	89919426	418919	37	24695											
TP53	0	.	GRCh38	chr17	7674963	7674963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcggataagatgctgaggagGggccagacctaagagcaatc	13	6	14	8	1	0	4	0	1	0	3	2	6	0	6	2	4	2	2	2	4	3	2			C3N-01413_TP	C3N-01413_NB	G	G																c.568C>A	p.Pro190Thr	p.P190T	ENST00000269305	6/11	450	397	53	454	452	2	strelka-varscan-mutect	TP53,missense_variant,p.Pro190Thr,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Pro190Thr,ENST00000420246,;TP53,missense_variant,p.Pro151Thr,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Pro151Thr,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Pro190Thr,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Pro151Thr,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Pro190Thr,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Pro151Thr,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Pro190Thr,ENST00000445888,;TP53,missense_variant,p.Pro151Thr,ENST00000619485,;TP53,missense_variant,p.Pro58Thr,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Pro31Thr,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Pro58Thr,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Pro31Thr,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Pro58Thr,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Pro31Thr,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Pro190Thr,ENST00000359597,;TP53,missense_variant,p.Pro179Thr,ENST00000615910,;TP53,missense_variant,p.Pro190Thr,ENST00000413465,;TP53,missense_variant,p.Pro58Thr,ENST00000509690,;TP53,missense_variant,p.Pro97Thr,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,missense_variant,p.Pro151Thr,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	T	ENST00000269305	Transcript	missense_variant	758/2579	568/1182	190/393	P/T	Cct/Act	TP53_g.12637C>A,TP53_g.12637C>T,TP53_g.12637del,TP53_g.12637C>G,COSM1736075,COSM1736076,COSM1736077,COSM1736078,COSM1736079,COSM44426,COSM44438,COSM44682,COSM44936,COSM5610913	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0.02)		6/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417											0,0,0,0,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		0,0,0,0,1,1,1,1,1,1,1,1,1,1	1										PASS		rs876660254	.												T	3	4	76	7674963	7674963	G	T	1	0	0	0	0	1	0	0	0	16859	1232	43	2		2	TP53	17	7674963	Missense_Mutation	SNP	G	C3N-01413_TP		7674963	75582478	38	24696											
SHMT1	0	.	GRCh38	chr17	18353776	18353776	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaatcagctccaatccAaccctctgccggttactctc	9	9	7	16	1	3	0	1	0	2	0	6	1	5	0	4	2	4	3	4	2	4	1	novel		C3N-01413_TP	C3N-01413_NB	A	A																c.138T>A	p.=	p.V46V	ENST00000316694	3/12	475	409	66	441	441	0	strelka-varscan-mutect	SHMT1,synonymous_variant,p.=,ENST00000316694,NM_004169.4;SHMT1,synonymous_variant,p.=,ENST00000354098,NM_148918.2;SHMT1,synonymous_variant,p.=,ENST00000582653,;SHMT1,5_prime_UTR_variant,,ENST00000352886,NM_001281786.1;SHMT1,downstream_gene_variant,,ENST00000583780,;SHMT1,synonymous_variant,p.=,ENST00000580002,;SHMT1,non_coding_transcript_exon_variant,,ENST00000579558,;SHMT1,non_coding_transcript_exon_variant,,ENST00000395682,;	T	ENST00000316694	Transcript	synonymous_variant	273/2464	138/1452	46/483	V	gtT/gtA		1		-1	SHMT1	HGNC	HGNC:10850	protein_coding	YES	CCDS11196.1	ENSP00000318868	P34896		UPI0000001C71	NM_004169.4			3/12		HAMAP:MF_00051,hmmpanther:PTHR11680:SF14,hmmpanther:PTHR11680,Pfam_domain:PF00464,PIRSF_domain:PIRSF000412,Superfamily_domains:SSF53383																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	76	18353776	18353776	A	T	1	0	0	0	0	0	0	0	1	14548	117	5	4		4	SHMT1	17	18353776	Silent	SNP	A	C3N-01413_TP	10678813	18353776	64903665	39	24697											
KRTAP4-4	0	.	GRCh38	chr17	41160367	41160367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacacagactggcagcactGgggcctgcagcagctggggc	8	4	16	13	0	0	1	0	0	0	1	0	1	0	1	1	5	4	6	1	5	0	0	novel		C3N-01413_TP	C3N-01413_NB	G	G																c.325C>A	p.Gln109Lys	p.Q109K	ENST00000390661	1/1	538	479	59	434	430	4	strelka-varscan-mutect	KRTAP4-4,missense_variant,p.Gln109Lys,ENST00000390661,NM_032524.1;	T	ENST00000390661	Transcript	missense_variant	365/1081	325/501	109/166	Q/K	Cag/Aag		1		-1	KRTAP4-4	HGNC	HGNC:16928	protein_coding	YES	CCDS11383.1	ENSP00000375076	Q9BYR3		UPI000006DEC1	NM_032524.1			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF57,Pfam_domain:PF13885																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	76	41160367	41160367	G	T	1	0	0	0	0	1	0	0	0	8447	1357	47	2		2	KRTAP4-4	17	41160367	Missense_Mutation	SNP	G	C3N-01413_TP	22806591	41160367	42097074	40	24698											
GATA6	0	.	GRCh38	chr18	22172112	22172114	+	In_Frame_Del	DEL	ACC	ACC	-																															gcggccgctgaacgggacgtAccaccaccaccaccaccacc																								rs587780342		C3N-01413_TP	C3N-01413_NB	ACC	ACC																c.996_998delCCA	p.His333del	p.H333del	ENST00000269216	2/7	27	20	7	26	26	0	sindel-varindel	GATA6,inframe_deletion,p.His333del,ENST00000269216,NM_005257.5;GATA6,inframe_deletion,p.His333del,ENST00000581694,;GATA6-AS1,upstream_gene_variant,,ENST00000583490,;GATA6-AS1,upstream_gene_variant,,ENST00000584373,;GATA6-AS1,upstream_gene_variant,,ENST00000579431,;GATA6-AS1,upstream_gene_variant,,ENST00000584201,;RP11-627G18.2,downstream_gene_variant,,ENST00000578504,;	-	ENST00000269216	Transcript	inframe_deletion	1245-1247/3770	968-970/1788	323-324/595	YH/Y	tACCac/tac	rs587780342,TMP_ESP_18_19752073_19752075,COSM4686489	1		1	GATA6	HGNC	HGNC:4174	protein_coding	YES	CCDS11872.1	ENSP00000269216	Q92908		UPI0000201AC8	NM_005257.5			2/7		Pfam_domain:PF05349,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF23,Low_complexity_(Seg):seg										benign	0,0,1						MODERATE	1	deletion	1	28	1,0,1	1										PASS		.	.												-	7	5	76	22172112	22172112	ACC	-	1	0	1	0	1	0	0	0	0	6128	391	14	0		0	GATA6	18	22172112	In_Frame_Del	DEL	ACC	C3N-01413_TP		22172112	58201173	41	24699											
RBBP8	0	.	GRCh38	chr18	22949639	22949639	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgcacaaagactagaagaAttcttcaccaaaaatcaaca	20	7	5	9	0	3	3	2	0	1	3	3	4	3	3	1	0	2	1	1	0	7	3	novel		C3N-01413_TP	C3N-01413_NB	A	A																c.174A>G	p.=	p.E58E	ENST00000399722	4/19	279	243	36	312	312	0	strelka-varscan-mutect	RBBP8,synonymous_variant,p.=,ENST00000399722,NM_203291.1;RBBP8,synonymous_variant,p.=,ENST00000327155,NM_002894.2;RBBP8,synonymous_variant,p.=,ENST00000399725,NM_203292.1;RBBP8,synonymous_variant,p.=,ENST00000360790,;RBBP8,synonymous_variant,p.=,ENST00000399721,;RBBP8,synonymous_variant,p.=,ENST00000582354,;RBBP8,synonymous_variant,p.=,ENST00000581819,;RBBP8,synonymous_variant,p.=,ENST00000579124,;RBBP8,non_coding_transcript_exon_variant,,ENST00000580892,;	G	ENST00000399722	Transcript	synonymous_variant	525/3293	174/2694	58/897	E	gaA/gaG		1		1	RBBP8	HGNC	HGNC:9891	protein_coding	YES	CCDS11875.1	ENSP00000382628	Q99708	A0A024RC34	UPI000013D1A9	NM_203291.1			4/19		hmmpanther:PTHR15107:SF4,hmmpanther:PTHR15107,Pfam_domain:PF10482																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	76	22949639	22949639	A	G	1	0	0	0	0	0	0	0	1	13266	98	4	5		5	RBBP8	18	22949639	Silent	SNP	A	C3N-01413_TP	777527	22949639	57423646	42	24700											
MAPK4	0	.	GRCh38	chr18	50715204	50715204	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctggctgagatgcttacGgggagaatgctctttgctgg	7	12	14	8	1	1	2	0	1	1	2	2	4	2	2	1	4	4	4	1	4	2	2	rs550266883		C3N-01413_TP	C3N-01413_NB	G	G																c.672G>A	p.=	p.T224T	ENST00000400384	3/6	138	124	14	154	154	0	strelka-varscan-mutect	MAPK4,synonymous_variant,p.=,ENST00000400384,NM_002747.3;MAPK4,synonymous_variant,p.=,ENST00000592595,NM_001292040.1;MAPK4,synonymous_variant,p.=,ENST00000540640,NM_001292039.1;	A	ENST00000400384	Transcript	synonymous_variant	1708/4770	672/1764	224/587	T	acG/acA	rs550266883,COSM1257316	1		1	MAPK4	HGNC	HGNC:6878	protein_coding	YES	CCDS42437.1	ENSP00000383234	P31152		UPI0000201D20	NM_002747.3			3/6		PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF25,hmmpanther:PTHR24055,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1						LOW	1	SNV	1		0,1	1										PASS		rs550266883	.												A	2	1	76	50715204	50715204	G	A	1	0	0	0	0	0	0	0	1	9204	1103	39	1		1	MAPK4	18	50715204	Silent	SNP	G	C3N-01413_TP	27765565	50715204	29658081	43	24701											
ZNF8	0	.	GRCh38	chr19	58295055	58295055	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatccctggcccagcaccAgcggaagcacgcgggggaga	9	3	14	15	3	1	1	1	0	0	1	2	3	2	2	3	4	3	2	3	4	1	0	novel		C3N-01413_TP	C3N-01413_NB	A	A																c.1247A>T	p.Gln416Leu	p.Q416L	ENST00000621650	4/4	255	217	38	250	250	0	strelka-varscan-mutect	ZNF8,missense_variant,p.Gln416Leu,ENST00000621650,NM_021089.2;AC010642.1,3_prime_UTR_variant,,ENST00000591325,;CTD-3138B18.4,3_prime_UTR_variant,,ENST00000637233,;	T	ENST00000621650	Transcript	missense_variant	1378/9128	1247/1728	416/575	Q/L	cAg/cTg		1		1	ZNF8	HGNC	HGNC:13154	protein_coding	YES	CCDS12974.1	ENSP00000477716	P17098		UPI0000185FEA	NM_021089.2	tolerated(0.05)		4/4		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF186,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	76	58295055	58295055	A	T	1	0	0	0	0	1	0	0	0	18752	188	7	4		4	ZNF8	19	58295055	Missense_Mutation	SNP	A	C3N-01413_TP		58295055	322561	44	24702											
POFUT1	0	.	GRCh38	chr20	32234636	32234636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcttcggcatggacaggcCccctaagctgcgggacgagt	7	9	13	12	3	1	0	0	0	1	0	2	3	1	2	2	4	2	2	2	4	1	3	novel		C3N-01413_TP	C3N-01413_NB	C	C																c.1142C>T	p.Pro381Leu	p.P381L	ENST00000375749	7/7	74	67	7	59	59	0	strelka-varscan-mutect	POFUT1,missense_variant,p.Pro381Leu,ENST00000375749,NM_015352.1;POFUT1,upstream_gene_variant,,ENST00000408740,;POFUT1,downstream_gene_variant,,ENST00000486717,;POFUT1,downstream_gene_variant,,ENST00000465791,;POFUT1,upstream_gene_variant,,ENST00000434904,;	T	ENST00000375749	Transcript	missense_variant	1204/5235	1142/1167	381/388	P/L	cCc/cTc		1		1	POFUT1	HGNC	HGNC:14988	protein_coding	YES	CCDS13198.1	ENSP00000364902	Q9H488		UPI0000130C42	NM_015352.1	deleterious(0.05)		7/7		hmmpanther:PTHR21420,hmmpanther:PTHR21420:SF3																	MODERATE	1	SNV	1			1										PASS		rs1442284952	.												T	3	4	76	32234636	32234636	C	T	1	0	0	0	0	1	0	0	0	12292	623	22	3		3	POFUT1	20	32234636	Missense_Mutation	SNP	C	C3N-01413_TP		32234636	32209531	45	24703											
DSCAM	0	.	GRCh38	chr21	40013213	40013213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctctcgtggaggaggCggaggaggcggcttccatcg	5	9	16	11	4	1	0	0	0	1	0	6	4	3	4	2	7	0	1	2	7	0	2	rs750989668		C3N-01413_TP	C3N-01413_NB	C	C																c.5860G>A	p.Ala1954Thr	p.A1954T	ENST00000400454	33/33	132	96	36	119	119	0	strelka-varscan-mutect	DSCAM,missense_variant,p.Ala1954Thr,ENST00000400454,NM_001389.3,NM_001271534.1;DSCAM,missense_variant,p.Ala1789Thr,ENST00000617870,;DSCAM,missense_variant,p.Ala1688Thr,ENST00000404019,;	T	ENST00000400454	Transcript	missense_variant	6338/8552	5860/6039	1954/2012	A/T	Gcc/Acc	rs750989668	1		-1	DSCAM	HGNC	HGNC:3039	protein_coding	YES	CCDS42929.1	ENSP00000383303	O60469		UPI00000422DF	NM_001389.3,NM_001271534.1	tolerated_low_confidence(0.4)		33/33		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16																	MODERATE	1	SNV	1			1										PASS		rs750989668	.												T	3	4	76	40013213	40013213	C	T	1	0	0	0	0	1	0	0	0	4589	768	27	1		1	DSCAM	21	40013213	Missense_Mutation	SNP	C	C3N-01413_TP		40013213	6696770	46	24704											
TCEAL3	0	.	GRCh38	chrX	103609640	103609640	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggaggtaggggccagagGggcttacacgatatcccata	10	7	16	8	1	0	1	0	0	0	1	1	3	1	2	2	7	1	2	2	7	4	4	rs75427253		C3N-01413_TP	C3N-01413_NB	G	G																c.576G>A	p.=	p.R192R	ENST00000372628	3/3	202	190	12	164	161	3	varscan-mutect	TCEAL3,synonymous_variant,p.=,ENST00000372628,;TCEAL3,synonymous_variant,p.=,ENST00000243286,NM_001006933.1;TCEAL3,synonymous_variant,p.=,ENST00000372627,NM_032926.2;TCEAL3,intron_variant,,ENST00000477014,;	A	ENST00000372628	Transcript	synonymous_variant	934/1221	576/603	192/200	R	agG/agA	rs75427253	1		1	TCEAL3	HGNC	HGNC:28247	protein_coding	YES	CCDS14511.1	ENSP00000361711	Q969E4		UPI0000071CE7				3/3		hmmpanther:PTHR14754,hmmpanther:PTHR14754:SF17,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs75427253	.												A	2	1	76	103609640	103609640	G	A	1	0	0	0	0	0	0	0	1	16079	1223	43	3		3	TCEAL3	23	103609640	Silent	SNP	G	C3N-01413_TP		103609640	52431255	47	24705											
ATP6AP1	0	.	GRCh38	chrX	154435284	154435284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttccccaggttcattctgGccaaccgcctctacccagtg	6	10	7	18	1	3	0	1	0	2	0	4	0	4	0	7	2	2	1	7	2	2	4	novel		C3N-01413_TP	C3N-01413_NB	G	G																c.982G>A	p.Ala328Thr	p.A328T	ENST00000369762	9/10	301	263	38	198	198	0	strelka-varscan-mutect	ATP6AP1,missense_variant,p.Ala139Thr,ENST00000619046,;ATP6AP1,missense_variant,p.Ala328Thr,ENST00000369762,NM_001183.5;ATP6AP1,missense_variant,p.Ala242Thr,ENST00000422890,;GDI1,upstream_gene_variant,,ENST00000447750,NM_001493.2;GDI1,upstream_gene_variant,,ENST00000630693,;ATP6AP1,downstream_gene_variant,,ENST00000449556,;GDI1,upstream_gene_variant,,ENST00000475976,;GDI1,upstream_gene_variant,,ENST00000485143,;ATP6AP1,downstream_gene_variant,,ENST00000484908,;GDI1,upstream_gene_variant,,ENST00000471972,;ATP6AP1,3_prime_UTR_variant,,ENST00000455205,;ATP6AP1,3_prime_UTR_variant,,ENST00000429585,;ATP6AP1,non_coding_transcript_exon_variant,,ENST00000491569,;GDI1,upstream_gene_variant,,ENST00000491154,;GDI1,upstream_gene_variant,,ENST00000481304,;GDI1,upstream_gene_variant,,ENST00000489589,;GDI1,upstream_gene_variant,,ENST00000434049,;ATP6AP1,downstream_gene_variant,,ENST00000439372,;ATP6AP1,downstream_gene_variant,,ENST00000446552,;GDI1,upstream_gene_variant,,ENST00000445564,;GDI1,upstream_gene_variant,,ENST00000415109,;	A	ENST00000369762	Transcript	missense_variant	1043/2099	982/1413	328/470	A/T	Gcc/Acc		1		1	ATP6AP1	HGNC	HGNC:868	protein_coding	YES	CCDS35451.1	ENSP00000358777	Q15904		UPI000013811E	NM_001183.5	tolerated(0.62)		9/10		Pfam_domain:PF05827,hmmpanther:PTHR12471,hmmpanther:PTHR12471:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	76	154435284	154435284	G	A	1	0	0	0	0	1	0	0	0	1318	1203	42	3		3	ATP6AP1	23	154435284	Missense_Mutation	SNP	G	C3N-01413_TP	50825644	154435284	1605611	48	24706											
GABRD	0	.	GRCh38	chr1	2029162	2029162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacctgcggaggaaccgcgGcgtgtacatcatccaatcct	9	7	10	15	4	1	0	1	0	0	0	3	2	3	2	5	3	3	1	5	3	3	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.743G>A	p.Gly248Asp	p.G248D	ENST00000378585	7/9	173	137	36	300	300	0	strelka-varscan-mutect	GABRD,missense_variant,p.Gly248Asp,ENST00000378585,NM_000815.4;	A	ENST00000378585	Transcript	missense_variant	843/1928	743/1359	248/452	G/D	gGc/gAc		1		1	GABRD	HGNC	HGNC:4084	protein_coding	YES	CCDS36.1	ENSP00000367848	O14764		UPI0000070D0A	NM_000815.4	deleterious(0.01)		7/9		Prints_domain:PR00252,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF34,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	2029162	2029162	G	A	1	0	0	0	0	1	0	0	0	6040	1203	42	3		3	GABRD	1	2029162	Missense_Mutation	SNP	G	C3N-01414_TP		2029162	246927260	1	24707											
SKI	0	.	GRCh38	chr1	2303023	2303023	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagacccaaaacagatgacAcctcttcccagtcccccgcg	12	6	6	17	2	1	3	0	1	1	2	3	3	3	3	5	0	1	0	5	0	3	2	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1015A>G	p.Thr339Ala	p.T339A	ENST00000378536	2/7	352	313	39	553	553	0	strelka-varscan-mutect	SKI,missense_variant,p.Thr339Ala,ENST00000378536,NM_003036.3;SKI,non_coding_transcript_exon_variant,,ENST00000478223,;SKI,non_coding_transcript_exon_variant,,ENST00000508416,;SKI,upstream_gene_variant,,ENST00000507179,;	G	ENST00000378536	Transcript	missense_variant	1087/5613	1015/2187	339/728	T/A	Acc/Gcc		1		1	SKI	HGNC	HGNC:10896	protein_coding	YES	CCDS39.1	ENSP00000367797	P12755		UPI00001359DE	NM_003036.3	tolerated(0.8)		2/7		hmmpanther:PTHR10005:SF15,hmmpanther:PTHR10005																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	77	2303023	2303023	A	G	1	0	0	0	0	1	0	0	0	14619	159	6	5		5	SKI	1	2303023	Missense_Mutation	SNP	A	C3N-01414_TP	273861	2303023	246653399	2	24708											
TAS1R1	0	.	GRCh38	chr1	6575048	6575048	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaagcctgggccctcTccaggcacatcactggggtg	7	7	12	15	0	3	1	2	0	1	1	4	1	3	1	4	4	1	1	4	4	1	0	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.916T>C	p.Ser306Pro	p.S306P	ENST00000333172	3/6	44	32	12	61	61	0	strelka-varscan-mutect	TAS1R1,missense_variant,p.Ser306Pro,ENST00000333172,NM_138697.3;TAS1R1,missense_variant,p.Ser232Pro,ENST00000411823,;TAS1R1,intron_variant,,ENST00000351136,NM_177540.2;TAS1R1,intron_variant,,ENST00000415267,;ZBTB48,upstream_gene_variant,,ENST00000377674,NM_005341.3,NM_001278647.1,NM_001278648.1;ZBTB48,upstream_gene_variant,,ENST00000319084,;ZBTB48,upstream_gene_variant,,ENST00000435905,;	C	ENST00000333172	Transcript	missense_variant	1109/2892	916/2526	306/841	S/P	Tcc/Ccc		1		1	TAS1R1	HGNC	HGNC:14448	protein_coding	YES	CCDS81.1	ENSP00000331867	Q7RTX1		UPI000004737B	NM_138697.3	deleterious(0.01)		3/6		hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF3,Pfam_domain:PF01094,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	6575048	6575048	T	C	1	0	0	0	0	1	0	0	0	15961	1551	54	5		5	TAS1R1	1	6575048	Missense_Mutation	SNP	T	C3N-01414_TP	4272025	6575048	242381374	3	24709											
PRAMEF7	0	.	GRCh38	chr1	12920408	12920408	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcccagtcactgcctcTgttgaatgcctgccatcagg	7	10	11	13	0	3	1	2	1	1	0	3	2	3	2	4	2	4	1	4	2	1	1	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.1420T>A	p.Cys474Ser	p.C474S	ENST00000616979	4/4	160	144	16	257	257	0	varscan-mutect	PRAMEF7,missense_variant,p.Cys474Ser,ENST00000616979,NM_001012277.4;PRAMEF7,missense_variant,p.Cys474Ser,ENST00000330881,;RNU6-1072P,upstream_gene_variant,,ENST00000384703,;	A	ENST00000616979	Transcript	missense_variant	1518/1592	1420/1425	474/474	C/S	Tgt/Agt		1		1	PRAMEF7	HGNC	HGNC:28415	protein_coding	YES	CCDS30593.1	ENSP00000484237	Q5VXH5		UPI000058F1DF	NM_001012277.4	deleterious(0)		4/4		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	77	12920408	12920408	T	A	1	0	0	0	0	1	0	0	0	12569	1580	55	4		4	PRAMEF7	1	12920408	Missense_Mutation	SNP	T	C3N-01414_TP	6345360	12920408	236036014	4	24710											
CLCNKA	0	.	GRCh38	chr1	16027310	16027310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacatcagtgtcgcccccagGcgtcctgttcagcatcgagg	7	8	12	14	3	2	0	2	0	0	0	5	2	3	0	3	2	1	2	3	2	0	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.656G>T	p.Gly219Val	p.G219V	ENST00000331433	8/20	262	225	37	392	391	1	strelka-varscan-mutect	CLCNKA,missense_variant,p.Gly219Val,ENST00000375692,NM_001042704.1;CLCNKA,missense_variant,p.Gly219Val,ENST00000331433,NM_004070.3;CLCNKA,missense_variant,p.Gly176Val,ENST00000439316,NM_001257139.1;CLCNKA,splice_region_variant,,ENST00000464764,;CLCNKA,splice_region_variant,,ENST00000491433,;CLCNKA,downstream_gene_variant,,ENST00000495784,;	T	ENST00000331433	Transcript	missense_variant,splice_region_variant	675/2475	656/2064	219/687	G/V	gGc/gTc		1		1	CLCNKA	HGNC	HGNC:2026	protein_coding	YES	CCDS167.1	ENSP00000332771	P51800		UPI0000127993	NM_004070.3	deleterious(0.01)		8/20		Gene3D:1otsB00,Pfam_domain:PF00654,Prints_domain:PR00762,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF95,Superfamily_domains:SSF81340,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1286133127	.												T	3	4	77	16027310	16027310	G	T	1	0	0	0	0	1	0	0	0	3233	1217	42	2		2	CLCNKA	1	16027310	Missense_Mutation	SNP	G	C3N-01414_TP	3106902	16027310	232929112	5	24711											
C1QC	0	.	GRCh38	chr1	22647232	22647232	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctccatctccaggaatcCcagccattcccgggatccga	8	9	7	17	2	2	0	0	0	2	0	7	3	5	2	6	2	1	0	6	2	1	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.187C>A	p.Pro63Thr	p.P63T	ENST00000374639	3/3	222	169	53	338	338	0	strelka-varscan-mutect	C1QC,missense_variant,p.Pro63Thr,ENST00000374639,NM_001114101.1;C1QC,missense_variant,p.Pro63Thr,ENST00000374640,NM_172369.3;C1QC,missense_variant,p.Pro63Thr,ENST00000374637,;	A	ENST00000374639	Transcript	missense_variant	305/1183	187/738	63/245	P/T	Cca/Aca		1		1	C1QC	HGNC	HGNC:1245	protein_coding	YES	CCDS227.1	ENSP00000363770	P02747	A0A024RAA7	UPI0000126BF3	NM_001114101.1	deleterious(0.03)		3/3		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF558,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	77	22647232	22647232	C	A	1	0	0	0	0	1	0	0	0	1935	637	22	2		2	C1QC	1	22647232	Missense_Mutation	SNP	C	C3N-01414_TP	6619922	22647232	226309190	6	24712											
SPOCD1	0	.	GRCh38	chr1	31792308	31792308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctccacagaggccagccCgtggcgctgcctatcattga	7	8	12	14	2	1	2	1	1	0	1	2	2	2	2	4	2	3	2	4	2	1	2	rs751875735		C3N-01414_TP	C3N-01414_NB	C	C																c.2869G>T	p.Gly957Trp	p.G957W	ENST00000360482	15/16	302	265	37	465	465	0	strelka-varscan-mutect	SPOCD1,missense_variant,p.Gly957Trp,ENST00000360482,NM_144569.5;SPOCD1,missense_variant,p.Gly957Trp,ENST00000533231,NM_001281987.1;SPOCD1,missense_variant,p.Gly450Trp,ENST00000257100,NM_001281988.1;SPOCD1,missense_variant,p.Gly393Trp,ENST00000452755,;SPOCD1,downstream_gene_variant,,ENST00000528579,;RP11-84A19.3,downstream_gene_variant,,ENST00000527035,;SPOCD1,intron_variant,,ENST00000473361,;SPOCD1,downstream_gene_variant,,ENST00000485944,;SPOCD1,downstream_gene_variant,,ENST00000468720,;SPOCD1,downstream_gene_variant,,ENST00000460061,;SPOCD1,downstream_gene_variant,,ENST00000531039,;SPOCD1,downstream_gene_variant,,ENST00000532604,;	A	ENST00000360482	Transcript	missense_variant	2999/3960	2869/3651	957/1216	G/W	Ggg/Tgg	rs751875735	1		-1	SPOCD1	HGNC	HGNC:26338	protein_coding	YES	CCDS347.1	ENSP00000353670	Q6ZMY3		UPI000035E7DD	NM_144569.5	deleterious(0)		15/16		hmmpanther:PTHR11477:SF18,hmmpanther:PTHR11477,Pfam_domain:PF07744																	MODERATE	1	SNV	2			1										PASS		rs751875735	.												A	3	1	77	31792308	31792308	C	A	1	0	0	0	0	1	0	0	0	15431	652	23	1		1	SPOCD1	1	31792308	Missense_Mutation	SNP	C	C3N-01414_TP	9145076	31792308	217164114	7	24713											
AGO3	0	.	GRCh38	chr1	36055106	36055106	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatgctcacctggtagcatTtagagccagatatcatcttg	10	14	8	9	0	3	2	2	0	1	2	3	2	3	2	2	1	3	3	2	1	4	6	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.2435T>G	p.Phe812Cys	p.F812C	ENST00000373191	18/19	264	242	22	436	434	2	strelka-varscan-mutect	AGO3,missense_variant,p.Phe812Cys,ENST00000373191,NM_024852.3;AGO3,missense_variant,p.Phe578Cys,ENST00000246314,NM_177422.2;AGO3,3_prime_UTR_variant,,ENST00000634486,;AGO3,non_coding_transcript_exon_variant,,ENST00000471099,;	G	ENST00000373191	Transcript	missense_variant	2784/19687	2435/2583	812/860	F/C	tTt/tGt		1		1	AGO3	HGNC	HGNC:18421	protein_coding	YES	CCDS399.1	ENSP00000362287	Q9H9G7		UPI0000141361	NM_024852.3	deleterious(0)		18/19		HAMAP:MF_03032,PROSITE_profiles:PS50822,hmmpanther:PTHR22891:SF3,hmmpanther:PTHR22891,Pfam_domain:PF02171,Gene3D:3.30.420.10,SMART_domains:SM00950,Superfamily_domains:SSF53098																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	77	36055106	36055106	T	G	1	0	0	0	0	1	0	0	0	466	1841	64	5		5	AGO3	1	36055106	Missense_Mutation	SNP	T	C3N-01414_TP	4262798	36055106	212901316	8	24714											
ERI3	0	.	GRCh38	chr1	44319642	44319642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttacctctgtacagaatgGggtaagctgtggatggacta	10	11	12	8	0	1	1	0	0	1	1	1	3	1	3	2	4	3	3	2	4	5	4	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.592C>T	p.Pro198Ser	p.P198S	ENST00000372257	4/9	146	129	17	239	238	1	strelka-varscan-mutect	ERI3,missense_variant,p.Pro198Ser,ENST00000372257,NM_001301698.1,NM_024066.2;ERI3,missense_variant,p.Pro83Ser,ENST00000372259,;ERI3,missense_variant,p.Pro37Ser,ENST00000456170,;ERI3,missense_variant,p.Pro196Ser,ENST00000457571,;ERI3,missense_variant,p.Pro80Ser,ENST00000452396,;ERI3,non_coding_transcript_exon_variant,,ENST00000495828,;	A	ENST00000372257	Transcript	missense_variant	774/1684	592/1014	198/337	P/S	Cca/Tca		1		-1	ERI3	HGNC	HGNC:17276	protein_coding	YES	CCDS30696.1	ENSP00000361331	O43414		UPI00001C1D9B	NM_001301698.1,NM_024066.2	tolerated(0.22)		4/9		Gene3D:3.30.420.10,Pfam_domain:PF00929,hmmpanther:PTHR23044,SMART_domains:SM00479,Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	44319642	44319642	G	A	1	0	0	0	0	1	0	0	0	5080	1232	43	3		3	ERI3	1	44319642	Missense_Mutation	SNP	G	C3N-01414_TP	8264536	44319642	204636780	9	24715											
USP24	0	.	GRCh38	chr1	55166567	55166567	+	Splice_Site	DEL	C	C	-																															atattaacaaaagtcatataCcttatttaccaaatccacaa																								novel		C3N-01414_TP	C3N-01414_NB	C	C																c.861+1delG		p.X287_splice	ENST00000294383		150	112	38	332	331	1	sindel-varindel-pindel	USP24,splice_donor_variant,,ENST00000294383,NM_015306.2;	-	ENST00000294383	Transcript	splice_donor_variant	-/10549	861/7863	287/2620				1		-1	USP24	HGNC	HGNC:12623	protein_coding	YES	CCDS44154.2	ENSP00000294383	Q9UPU5		UPI000059CFDE	NM_015306.2				6/67																		HIGH	1	deletion	5			1										PASS		.	.												-	8	5	77	55166567	55166567	C	-	1	0	1	0	1	0	0	1	0	17596	521	18	0		0	USP24	1	55166567	Splice_Site	DEL	C	C3N-01414_TP	10846925	55166567	193789855	10	24716											
LRRC7	0	.	GRCh38	chr1	70036558	70036558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggatcctctaatacccGggttaaagtggggtccttgc	8	11	11	11	1	2	0	1	0	1	0	4	1	4	1	3	4	2	1	3	4	4	4	rs140092259		C3N-01414_TP	C3N-01414_NB	G	G																c.2108G>T	p.Arg703Leu	p.R703L	ENST00000035383	18/25	180	151	29	333	331	2	strelka-varscan-mutect	LRRC7,missense_variant,p.Arg708Leu,ENST00000310961,;LRRC7,missense_variant,p.Arg703Leu,ENST00000035383,NM_020794.2;LRRC7,intron_variant,,ENST00000415775,;	T	ENST00000035383	Transcript	missense_variant	2138/5000	2108/4614	703/1537	R/L	cGg/cTg	rs140092259,COSM464911,COSM71495	1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2	tolerated_low_confidence(0.14)		18/25													0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs140092259	.												T	3	4	77	70036558	70036558	G	T	1	0	0	0	0	1	0	0	0	8916	1116	39	1		1	LRRC7	1	70036558	Missense_Mutation	SNP	G	C3N-01414_TP	14869991	70036558	178919864	11	24717											
ASB17	0	.	GRCh38	chr1	75922293	75922293	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatattagactgtcttgtCtgagctacataaaagagagg	15	11	10	5	0	2	4	0	1	2	3	2	5	2	4	0	1	2	1	0	1	6	5			C3N-01414_TP	C3N-01414_NB	C	C																c.468G>C	p.Gln156His	p.Q156H	ENST00000284142	2/3	115	97	18	273	273	0	strelka-varscan-mutect	ASB17,missense_variant,p.Gln156His,ENST00000284142,NM_080868.2;	G	ENST00000284142	Transcript	missense_variant	608/1107	468/888	156/295	Q/H	caG/caC	COSM426695	1		-1	ASB17	HGNC	HGNC:19769	protein_coding	YES	CCDS671.1	ENSP00000284142	Q8WXJ9		UPI0000073CD7	NM_080868.2	deleterious(0.01)		2/3		Gene3D:1.25.40.20,hmmpanther:PTHR20966,hmmpanther:PTHR20966:SF2,Superfamily_domains:SSF48403											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	77	75922293	75922293	C	G	1	0	0	0	0	1	0	0	0	1163	912	32	4		4	ASB17	1	75922293	Missense_Mutation	SNP	C	C3N-01414_TP	5885735	75922293	173034129	12	24718											
PKN2	0	.	GRCh38	chr1	88771460	88771460	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaacttcggatggaagAattaaggcatcattttagga	13	13	10	5	1	2	2	1	1	1	1	3	5	2	5	0	4	1	1	0	4	5	5	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.662A>T	p.Glu221Val	p.E221V	ENST00000370521	5/22	132	98	34	294	294	0	strelka-varscan-mutect	PKN2,missense_variant,p.Glu221Val,ENST00000370521,NM_006256.2;PKN2,missense_variant,p.Glu221Val,ENST00000370513,;PKN2,missense_variant,p.Glu221Val,ENST00000316005,;PKN2,missense_variant,p.Glu3Val,ENST00000436111,;	T	ENST00000370521	Transcript	missense_variant	1021/6121	662/2955	221/984	E/V	gAa/gTa		1		1	PKN2	HGNC	HGNC:9406	protein_coding	YES	CCDS714.1	ENSP00000359552	Q16513		UPI000004D291	NM_006256.2	deleterious(0)		5/22		Pfam_domain:PF02185,Gene3D:1.10.287.160,SMART_domains:SM00742,Superfamily_domains:SSF46585																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	88771460	88771460	A	T	1	0	0	0	0	1	0	0	0	12076	246	9	4		4	PKN2	1	88771460	Missense_Mutation	SNP	A	C3N-01414_TP	12849167	88771460	160184962	13	24719											
GFI1	0	.	GRCh38	chr1	92476173	92476173	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagctctggctgaatgcCttgccgcacacctggcactt	6	11	11	13	1	1	1	0	1	1	0	1	2	1	2	3	3	3	4	3	3	1	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1125G>T	p.Lys375Asn	p.K375N	ENST00000370332	7/7	334	286	48	528	525	3	strelka-varscan-mutect	GFI1,missense_variant,p.Lys375Asn,ENST00000370332,NM_001127215.1;GFI1,missense_variant,p.Lys375Asn,ENST00000294702,NM_005263.3;GFI1,missense_variant,p.Lys375Asn,ENST00000427103,NM_001127216.1;	A	ENST00000370332	Transcript	missense_variant	1444/2855	1125/1269	375/422	K/N	aaG/aaT		1		-1	GFI1	HGNC	HGNC:4237	protein_coding	YES	CCDS30773.1	ENSP00000359357	Q99684		UPI000006D7FD	NM_001127215.1	deleterious(0.02)		7/7		PROSITE_profiles:PS50157,hmmpanther:PTHR19303:SF239,hmmpanther:PTHR19303,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	92476173	92476173	C	A	1	0	0	0	0	1	0	0	0	6213	680	24	2		2	GFI1	1	92476173	Missense_Mutation	SNP	C	C3N-01414_TP	3704713	92476173	156480249	14	24720											
ABCA4	0	.	GRCh38	chr1	94019668	94019668	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggatttgttcacccgctCctggatcaaataaaggacaa	12	11	8	10	1	2	0	2	0	0	0	3	3	3	3	2	3	0	2	2	3	4	4			C3N-01414_TP	C3N-01414_NB	C	C																c.5110G>T	p.Glu1704Ter	p.E1704*	ENST00000370225	36/50	267	235	32	477	477	0	strelka-mutect	ABCA4,stop_gained,p.Glu1704Ter,ENST00000370225,NM_000350.2;ABCA4,stop_gained,p.Glu496Ter,ENST00000536513,;ABCA4,non_coding_transcript_exon_variant,,ENST00000460514,;ABCA4,non_coding_transcript_exon_variant,,ENST00000470771,;	A	ENST00000370225	Transcript	stop_gained	5197/7309	5110/6822	1704/2273	E/*	Gag/Tag	CD109660	1		-1	ABCA4	HGNC	HGNC:34	protein_coding	YES	CCDS747.1	ENSP00000359245	P78363		UPI000012511C	NM_000350.2			36/50		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,Pfam_domain:PF12698,TIGRFAM_domain:TIGR01257																	HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	77	94019668	94019668	C	A	1	0	0	0	0	0	1	0	0	38	864	30	2		2	ABCA4	1	94019668	Nonsense_Mutation	SNP	C	C3N-01414_TP	1543495	94019668	154936754	15	24721											
DPYD	0	.	GRCh38	chr1	97193249	97193249	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaatggcactgcatacCtagaaaagacagagcagtca	15	8	9	9	0	2	4	1	1	1	3	2	4	2	4	1	1	3	3	1	1	5	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.2443-1G>A		p.X815_splice	ENST00000370192		329	294	35	486	486	0	strelka-varscan-mutect	DPYD,splice_acceptor_variant,,ENST00000370192,NM_000110.3;DPYD-AS1,intron_variant,,ENST00000422980,;	T	ENST00000370192	Transcript	splice_acceptor_variant	-/4412	2443/3078	815/1025				1		-1	DPYD	HGNC	HGNC:3012	protein_coding	YES	CCDS30777.1	ENSP00000359211	Q12882		UPI00000727C7	NM_000110.3				19/22																		HIGH	1	SNV	1			1										PASS		rs1319681736	.												T	5	4	77	97193249	97193249	C	T	1	0	0	0	0	0	0	1	0	4560	695	24	3		3	DPYD	1	97193249	Splice_Site	SNP	C	C3N-01414_TP	3173581	97193249	151763173	16	24722											
PLPPR4	0	.	GRCh38	chr1	99305838	99305838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaattgctcatacagaaGgcatcctcaaccgaaaccac	15	7	7	12	1	2	1	2	0	0	1	3	3	3	2	3	2	4	2	3	2	5	2	rs761930735		C3N-01414_TP	C3N-01414_NB	G	G																c.1120G>T	p.Gly374Cys	p.G374C	ENST00000370185	7/7	277	209	68	474	474	0	strelka-varscan-mutect	PLPPR4,missense_variant,p.Gly374Cys,ENST00000370185,NM_014839.4;PLPPR4,missense_variant,p.Gly316Cys,ENST00000457765,NM_001166252.1;PLPPR4,missense_variant,p.Gly216Cys,ENST00000370184,;	T	ENST00000370185	Transcript	missense_variant	1617/5369	1120/2292	374/763	G/C	Ggc/Tgc	rs761930735	1		1	PLPPR4	HGNC	HGNC:23496	protein_coding	YES	CCDS757.1	ENSP00000359204	Q7Z2D5		UPI0000161229	NM_014839.4	deleterious(0)		7/7		hmmpanther:PTHR10165:SF13,hmmpanther:PTHR10165																	MODERATE	1	SNV	1			1										PASS		rs761930735	.												T	3	4	77	99305838	99305838	G	T	1	0	0	0	0	1	0	0	0	12212	1000	35	2		2	PLPPR4	1	99305838	Missense_Mutation	SNP	G	C3N-01414_TP	2112589	99305838	149650584	17	24723											
COL11A1	0	.	GRCh38	chr1	102940339	102940339	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataccaaccttgtctccgtcTtccccaggggagccggcagg	7	8	11	15	2	2	0	0	0	2	0	4	1	3	1	6	4	3	1	6	4	2	3	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.3372A>T	p.Glu1124Asp	p.E1124D	ENST00000370096	43/67	267	232	35	454	453	1	strelka-varscan-mutect	COL11A1,missense_variant,p.Glu1136Asp,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Glu1124Asp,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Glu1085Asp,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Glu1008Asp,ENST00000512756,NM_080630.3;COL11A1,3_prime_UTR_variant,,ENST00000635193,;	A	ENST00000370096	Transcript	missense_variant	3685/7286	3372/5421	1124/1806	E/D	gaA/gaT		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	tolerated(0.08)		43/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	102940339	102940339	T	A	1	0	0	0	0	1	0	0	0	3455	1606	56	4		4	COL11A1	1	102940339	Missense_Mutation	SNP	T	C3N-01414_TP	3634501	102940339	146016083	18	24724											
SPAG17	0	.	GRCh38	chr1	117996641	117996641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgatgattcttttcaaGgtgcatagaggacagactat	11	14	10	6	0	2	4	1	2	1	2	2	5	2	5	0	2	2	2	0	2	3	6	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.4879C>A	p.Leu1627Ile	p.L1627I	ENST00000336338	33/49	140	105	35	317	317	0	strelka-varscan-mutect	SPAG17,missense_variant,p.Leu1627Ile,ENST00000336338,NM_206996.2;SPAG17,missense_variant,p.Leu107Ile,ENST00000437255,;	T	ENST00000336338	Transcript	missense_variant	4945/6924	4879/6672	1627/2223	L/I	Ctt/Att		1		-1	SPAG17	HGNC	HGNC:26620	protein_coding	YES	CCDS899.1	ENSP00000337804	Q6Q759		UPI00001601FD	NM_206996.2	tolerated(0.28)		33/49		hmmpanther:PTHR21963																	MODERATE	1	SNV	1			1										PASS		rs1467293897	.												T	3	4	77	117996641	117996641	G	T	1	0	0	0	0	1	0	0	0	15310	1000	35	2		2	SPAG17	1	117996641	Missense_Mutation	SNP	G	C3N-01414_TP	15056302	117996641	130959781	19	24725											
POLR3GL	0	.	GRCh38	chr1	145974897	145974897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtgggggccggggtcgtgGccggggccagttgaccttca	3	7	21	10	3	1	1	1	1	0	0	2	1	1	1	4	8	0	1	4	8	0	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.32G>T	p.Gly11Val	p.G11V	ENST00000369314	2/8	99	89	10	73	73	0	strelka-varscan-mutect	POLR3GL,missense_variant,p.Gly11Val,ENST00000369314,NM_032305.1;POLR3GL,missense_variant,p.Gly11Val,ENST00000369313,;CH17-270A2.2,intron_variant,,ENST00000625258,;CH17-270A2.2,intron_variant,,ENST00000630636,;POLR3GL,non_coding_transcript_exon_variant,,ENST00000622508,;POLR3GL,non_coding_transcript_exon_variant,,ENST00000471706,;	T	ENST00000369314	Transcript	missense_variant	139/1165	32/657	11/218	G/V	gGc/gTc		1		1	POLR3GL	HGNC	HGNC:28466	protein_coding	YES	CCDS72875.1	ENSP00000358320	Q9BT43		UPI000006F290	NM_032305.1	deleterious(0)		2/8		Pfam_domain:PF11705,hmmpanther:PTHR15367,hmmpanther:PTHR15367:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	145974897	145974897	G	T	1	0	0	0	0	1	0	0	0	12346	1203	42	2		2	POLR3GL	1	145974897	Missense_Mutation	SNP	G	C3N-01414_TP	27978256	145974897	102981525	20	24726											
PDE4DIP	0	.	GRCh38	chr1	148981366	148981367	+	Frame_Shift_Del	DEL	AA	AA	-																															ggaagaagcttggagcgcttAaacaggctggagaccctggc																								novel		C3N-01414_TP	C3N-01414_NB	AA	AA																c.2785_2786delAA	p.Asn929GlnfsTer16	p.N929Qfs*16	ENST00000369356	21/44	349	308	41	442	442	0	sindel-varindel-pindel	PDE4DIP,frameshift_variant,p.Asn1092GlnfsTer49,ENST00000529945,;PDE4DIP,frameshift_variant,p.Asn1066GlnfsTer16,ENST00000585156,;PDE4DIP,frameshift_variant,p.Asn929GlnfsTer16,ENST00000369356,NM_001198834.3;PDE4DIP,frameshift_variant,p.Asn1066GlnfsTer16,ENST00000524974,;PDE4DIP,frameshift_variant,p.Asn929GlnfsTer16,ENST00000369354,NM_014644.5;PDE4DIP,frameshift_variant,p.Asn995GlnfsTer16,ENST00000618462,NM_001198832.2;PDE4DIP,frameshift_variant,p.Asn1092GlnfsTer16,ENST00000313431,NM_001002811.2;PDE4DIP,frameshift_variant,p.Asn929GlnfsTer16,ENST00000369351,;PDE4DIP,frameshift_variant,p.Asn929GlnfsTer16,ENST00000369349,NM_001002812.2;PDE4DIP,frameshift_variant,p.Asn716GlnfsTer49,ENST00000479408,;PDE4DIP,frameshift_variant,p.Asn52GlnfsTer16,ENST00000491426,;PDE4DIP,intron_variant,,ENST00000467859,;PDE4DIP,intron_variant,,ENST00000530062,;	-	ENST00000369356	Transcript	frameshift_variant	3075-3076/8307	2784-2785/7089	928-929/2362	LN/LX	ttAAac/ttac		1		1	PDE4DIP	HGNC	HGNC:15580	protein_coding	YES	CCDS72892.1	ENSP00000358363		A0A0A0MRM1	UPI000292EFC6	NM_001198834.3			21/44																			HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	77	148981366	148981366	AA	-	1	0	1	0	1	0	0	0	0	11731	359	13	0		0	PDE4DIP	1	148981366	Frame_Shift_Del	DEL	AA	C3N-01414_TP	3006469	148981366	99975056	21	24727											
NBPF9	0	.	GRCh38	chr1	149055689	149055689	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacttccatctggaacacCaggtggagacttgtcaccgt	10	10	10	11	1	2	2	1	1	1	1	3	4	3	3	3	3	1	0	3	3	1	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.3303G>C	p.=	p.L1101L	ENST00000615421	29/29	481	399	82	499	499	0	strelka-varscan-mutect	NBPF9,synonymous_variant,p.=,ENST00000615421,;NBPF9,synonymous_variant,p.=,ENST00000621645,;NBPF9,synonymous_variant,p.=,ENST00000584027,NM_001277444.1;NBPF9,synonymous_variant,p.=,ENST00000613969,NM_001037501.2;NBPF9,synonymous_variant,p.=,ENST00000613595,NM_001037675.3;NBPF9,synonymous_variant,p.=,ENST00000621074,;NBPF9,synonymous_variant,p.=,ENST00000610300,;NBPF9,3_prime_UTR_variant,,ENST00000483630,;RP4-791M13.3,downstream_gene_variant,,ENST00000466343,;NBPF9,downstream_gene_variant,,ENST00000611593,;	G	ENST00000615421	Transcript	synonymous_variant	4173/5835	3303/3336	1101/1111	L	ctG/ctC		1		-1	NBPF9	HGNC	HGNC:31991	protein_coding	YES	CCDS72896.1	ENSP00000477979		A0A075B761	UPI000292EE30				29/29		PROSITE_profiles:PS51316,hmmpanther:PTHR14199:SF20,hmmpanther:PTHR14199																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	77	149055689	149055689	C	G	1	0	0	0	0	0	0	0	1	10215	581	21	4		4	NBPF9	1	149055689	Silent	SNP	C	C3N-01414_TP	74323	149055689	99900733	22	24728											
CGN	0	.	GRCh38	chr1	151529971	151529971	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cggcgggccgcagtggagacGacgcttcgggagacccagga	8	3	18	12	6	0	2	0	0	0	2	1	6	0	3	2	5	0	2	2	5	0	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.2169G>C	p.=	p.T723T	ENST00000271636	12/21	197	165	32	168	168	0	strelka-varscan-mutect	CGN,synonymous_variant,p.=,ENST00000271636,NM_020770.2;SNORA44,upstream_gene_variant,,ENST00000517031,;CGN,upstream_gene_variant,,ENST00000473377,;CGN,downstream_gene_variant,,ENST00000464886,;	C	ENST00000271636	Transcript	synonymous_variant	2302/5091	2169/3612	723/1203	T	acG/acC		1		1	CGN	HGNC	HGNC:17429	protein_coding	YES	CCDS999.1	ENSP00000271636	Q9P2M7		UPI0000161C1E	NM_020770.2			12/21		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF474																	LOW	1	SNV	1			1										PASS		rs908870060	.												C	2	2	77	151529971	151529971	G	C	1	0	0	0	0	0	0	0	1	3061	1045	37	4		4	CGN	1	151529971	Silent	SNP	G	C3N-01414_TP	2474282	151529971	97426451	23	24729											
C2CD4D	0	.	GRCh38	chr1	151838039	151838039	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccagcagcacatccctGcgaagtcccgcgcccctgtc	6	6	8	21	3	0	0	0	0	0	0	4	1	3	0	6	0	3	2	6	0	1	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.951C>T	p.=	p.R317R	ENST00000454109	2/2	266	178	88	278	278	0	strelka-varscan-mutect	C2CD4D,synonymous_variant,p.=,ENST00000454109,NM_001136003.1;AL450992.2,upstream_gene_variant,,ENST00000434182,;Y_RNA,downstream_gene_variant,,ENST00000364264,;	A	ENST00000454109	Transcript	synonymous_variant	1537/1757	951/1062	317/353	R	cgC/cgT		1		-1	C2CD4D	HGNC	HGNC:37210	protein_coding	YES	CCDS44224.1	ENSP00000389554	B7Z1M9		UPI0001747AE2	NM_001136003.1			2/2		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF179,SMART_domains:SM00239,Superfamily_domains:SSF49562																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	77	151838039	151838039	G	A	1	0	0	0	0	0	0	0	1	2029	1306	46	3		3	C2CD4D	1	151838039	Silent	SNP	G	C3N-01414_TP	308068	151838039	97118383	24	24730											
HRNR	0	.	GRCh38	chr1	152214268	152214268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaagccagaagagtgaccgGagccagactcatatgggcca	13	5	12	11	1	1	4	1	1	0	3	1	5	1	5	4	2	2	0	4	2	3	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.7361C>A	p.Ser2454Tyr	p.S2454Y	ENST00000368801	3/3	943	807	136	864	864	0	strelka-varscan-mutect	HRNR,missense_variant,p.Ser2454Tyr,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368801	Transcript	missense_variant	7437/9623	7361/8553	2454/2850	S/Y	tCc/tAc		1		-1	HRNR	HGNC	HGNC:20846	protein_coding	YES	CCDS30859.1	ENSP00000357791	Q86YZ3		UPI00001D7CAD	NM_001009931.2	deleterious(0.04)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	152214268	152214268	G	T	1	0	0	0	0	1	0	0	0	7254	1174	41	2		2	HRNR	1	152214268	Missense_Mutation	SNP	G	C3N-01414_TP	376229	152214268	96742154	25	24731											
HRNR	0	.	GRCh38	chr1	152220387	152220387	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagatccagagctgtgttgGccgcggcctgaagagtgacg	8	7	15	11	3	0	5	0	2	0	3	1	5	1	5	4	2	1	2	4	2	1	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1242C>A	p.=	p.G414G	ENST00000368801	3/3	489	409	80	498	498	0	strelka-varscan-mutect	HRNR,synonymous_variant,p.=,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368801	Transcript	synonymous_variant	1318/9623	1242/8553	414/2850	G	ggC/ggA		1		-1	HRNR	HGNC	HGNC:20846	protein_coding	YES	CCDS30859.1	ENSP00000357791	Q86YZ3		UPI00001D7CAD	NM_001009931.2			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	77	152220387	152220387	G	T	1	0	0	0	0	0	0	0	1	7254	1190	42	2		2	HRNR	1	152220387	Silent	SNP	G	C3N-01414_TP	6119	152220387	96736035	26	24732											
ARHGEF11	0	.	GRCh38	chr1	156940302	156940302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgatgcccctgttctctCcatccagggatgtggaaggg	6	11	12	12	0	1	1	0	1	1	0	5	3	4	3	5	3	1	1	5	3	1	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.3638G>T	p.Gly1213Val	p.G1213V	ENST00000368194	36/41	113	79	34	115	114	1	strelka-varscan-mutect	ARHGEF11,missense_variant,p.Gly1213Val,ENST00000368194,NM_198236.2;ARHGEF11,missense_variant,p.Gly1173Val,ENST00000361409,NM_014784.3;MIR765,upstream_gene_variant,,ENST00000390226,;ARHGEF11,non_coding_transcript_exon_variant,,ENST00000487682,;ARHGEF11,upstream_gene_variant,,ENST00000492592,;	A	ENST00000368194	Transcript	missense_variant	4678/6889	3638/4689	1213/1562	G/V	gGa/gTa		1		-1	ARHGEF11	HGNC	HGNC:14580	protein_coding	YES	CCDS1163.1	ENSP00000357177	O15085		UPI00001D62A7	NM_198236.2	tolerated_low_confidence(0.08)		36/41																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	156940302	156940302	C	A	1	0	0	0	0	1	0	0	0	1026	855	30	2		2	ARHGEF11	1	156940302	Missense_Mutation	SNP	C	C3N-01414_TP	4719915	156940302	92016120	27	24733											
SPTA1	0	.	GRCh38	chr1	158620461	158620461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaattccacgaacaggtcCtcagcctgcagagagaaaaa	16	5	9	11	1	1	2	1	0	0	2	3	4	3	2	3	1	3	2	3	1	4	1			C3N-01414_TP	C3N-01414_NB	C	C																c.6126G>T	p.Glu2042Asp	p.E2042D	ENST00000368147	44/52	291	254	37	318	318	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Glu2042Asp,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000484520,;SPTA1,downstream_gene_variant,,ENST00000461624,;SPTA1,upstream_gene_variant,,ENST00000492934,;SPTA1,upstream_gene_variant,,ENST00000498708,;	A	ENST00000368147	Transcript	missense_variant	6307/7999	6126/7260	2042/2419	E/D	gaG/gaT	COSM3476187,COSM897787	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0.05)		44/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Gene3D:1.20.58.60,Superfamily_domains:SSF46966											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	77	158620461	158620461	C	A	1	0	0	0	0	1	0	0	0	15472	695	24	2		2	SPTA1	1	158620461	Missense_Mutation	SNP	C	C3N-01414_TP	1680159	158620461	90335961	28	24734											
PYHIN1	0	.	GRCh38	chr1	158973755	158973755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccaccaaccgccatccaGcagttccttaaataaggtac	12	9	5	15	1	0	0	0	0	0	0	3	0	3	0	6	1	3	3	6	1	5	5	rs780923953		C3N-01414_TP	C3N-01414_NB	G	G																c.1468G>T	p.Ala490Ser	p.A490S	ENST00000368140	8/9	253	222	31	257	257	0	strelka-varscan-mutect	PYHIN1,missense_variant,p.Ala490Ser,ENST00000368140,NM_152501.4;PYHIN1,missense_variant,p.Ala481Ser,ENST00000368138,NM_198928.4;PYHIN1,intron_variant,,ENST00000392254,NM_198929.4;PYHIN1,intron_variant,,ENST00000392252,NM_198930.3;	T	ENST00000368140	Transcript	missense_variant	1713/2083	1468/1479	490/492	A/S	Gca/Tca	rs780923953,COSM241327,COSM5613794	1		1	PYHIN1	HGNC	HGNC:28894	protein_coding	YES	CCDS1178.1	ENSP00000357122	Q6K0P9		UPI0000225618	NM_152501.4			8/9		hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF14											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs780923953	.												T	3	4	77	158973755	158973755	G	T	1	0	0	0	0	1	0	0	0	13019	971	34	2		2	PYHIN1	1	158973755	Missense_Mutation	SNP	G	C3N-01414_TP	353294	158973755	89982667	29	24735											
NHLH1	0	.	GRCh38	chr1	160370890	160370890	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagagccgggagagccTggccggaaagacctgcagca	10	2	16	13	2	0	3	0	0	0	3	0	5	0	4	5	4	4	2	5	4	1	0	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.159T>A	p.=	p.P53P	ENST00000302101	2/2	402	310	92	478	476	2	strelka-varscan-mutect	NHLH1,synonymous_variant,p.=,ENST00000302101,NM_005598.3;	A	ENST00000302101	Transcript	synonymous_variant	605/2563	159/402	53/133	P	ccT/ccA		1		1	NHLH1	HGNC	HGNC:7817	protein_coding	YES	CCDS1204.1	ENSP00000302189	Q02575	Q5T203	UPI000012C5FE	NM_005598.3			2/2		hmmpanther:PTHR13864,hmmpanther:PTHR13864:SF20,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1268200522	.												A	2	1	77	160370890	160370890	T	A	1	0	0	0	0	0	0	0	1	10436	1567	55	4		4	NHLH1	1	160370890	Silent	SNP	T	C3N-01414_TP	1397135	160370890	88585532	30	24736											
FCRLA	0	.	GRCh38	chr1	161713233	161713233	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcttttcttctcctctgggGatgccagatcctcatctgta	5	15	9	12	0	5	1	1	0	4	1	7	2	6	2	3	3	1	2	3	3	1	4	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1002G>T	p.=	p.G334G	ENST00000367959	6/6	474	440	34	510	509	1	strelka-varscan-mutect	FCRLA,synonymous_variant,p.=,ENST00000367959,NM_001184866.1;FCRLA,synonymous_variant,p.=,ENST00000236938,NM_032738.3;FCRLA,synonymous_variant,p.=,ENST00000546024,NM_001184867.1;FCRLA,synonymous_variant,p.=,ENST00000367953,;FCRLA,synonymous_variant,p.=,ENST00000540521,NM_001184870.1;FCRLA,synonymous_variant,p.=,ENST00000367949,NM_001184873.1;FCRLA,synonymous_variant,p.=,ENST00000367957,NM_001184872.1;FCRLA,synonymous_variant,p.=,ENST00000350710,NM_001184871.1;FCRLA,synonymous_variant,p.=,ENST00000309691,;FCRLA,synonymous_variant,p.=,ENST00000349527,;FCRLA,synonymous_variant,p.=,ENST00000367950,;FCRLA,synonymous_variant,p.=,ENST00000294796,;FCRLA,non_coding_transcript_exon_variant,,ENST00000470841,;FCRLA,downstream_gene_variant,,ENST00000465403,;	T	ENST00000367959	Transcript	synonymous_variant	1244/2362	1002/1149	334/382	G	ggG/ggT		1		1	FCRLA	HGNC	HGNC:18504	protein_coding	YES	CCDS53415.1	ENSP00000356936	Q7L513		UPI0001D3957E	NM_001184866.1			6/6																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	77	161713233	161713233	G	T	1	0	0	0	0	0	0	0	1	5662	1161	41	2		2	FCRLA	1	161713233	Silent	SNP	G	C3N-01414_TP	1342343	161713233	87243189	31	24737											
METTL11B	0	.	GRCh38	chr1	170166697	170166697	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accactgctacagcctgcagGaattcacaccccccttcagg	10	7	7	17	0	2	0	2	0	0	0	2	1	2	1	5	2	4	2	5	2	2	3			C3N-01414_TP	C3N-01414_NB	G	G																c.526G>T	p.Glu176Ter	p.E176*	ENST00000439373	3/4	324	270	54	363	362	1	strelka-mutect	METTL11B,stop_gained,p.Glu176Ter,ENST00000439373,NM_001136107.1;METTL11B,non_coding_transcript_exon_variant,,ENST00000367764,;	T	ENST00000439373	Transcript	stop_gained	633/992	526/852	176/283	E/*	Gaa/Taa	COSM4551349	1		1	METTL11B	HGNC	HGNC:31932	protein_coding	YES	CCDS44275.1	ENSP00000408058	Q5VVY1		UPI0000418EF1	NM_001136107.1			3/4		hmmpanther:PTHR12753:SF2,hmmpanther:PTHR12753,Pfam_domain:PF05891,Gene3D:3.40.50.150,Superfamily_domains:SSF53335											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	77	170166697	170166697	G	T	1	0	0	0	0	0	1	0	0	9437	1175	41	2		2	METTL11B	1	170166697	Nonsense_Mutation	SNP	G	C3N-01414_TP	8453464	170166697	78789725	32	24738											
PRRC2C	0	.	GRCh38	chr1	171584417	171584417	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttaaaaaattttttctAggccagagcaaatcttaccc	13	15	4	9	0	3	1	0	0	3	1	3	1	3	1	2	1	2	1	2	1	6	7	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.7636-2A>T		p.X2546_splice	ENST00000338920		150	87	63	149	149	0	strelka-varscan-mutect	PRRC2C,splice_acceptor_variant,,ENST00000367742,;PRRC2C,splice_acceptor_variant,,ENST00000338920,NM_015172.3;PRRC2C,splice_acceptor_variant,,ENST00000426496,;PRRC2C,splice_acceptor_variant,,ENST00000495585,;PRRC2C,upstream_gene_variant,,ENST00000498596,;PRRC2C,upstream_gene_variant,,ENST00000492811,;	T	ENST00000338920	Transcript	splice_acceptor_variant	-/10355	7636/8454	2546/2817				1		1	PRRC2C	HGNC	HGNC:24903	protein_coding	YES	CCDS1296.2	ENSP00000343629	Q9Y520		UPI0000E265EC	NM_015172.3				29/33																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	77	171584417	171584417	A	T	1	0	0	0	0	0	0	1	0	12750	434	15	4		4	PRRC2C	1	171584417	Splice_Site	SNP	A	C3N-01414_TP	1417720	171584417	77372005	33	24739											
ASTN1	0	.	GRCh38	chr1	177029675	177029675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgaaggatccgtgtaaaagGtcagctgggggtcgttttct	8	13	14	6	2	2	1	1	1	1	0	4	2	3	2	1	4	1	3	1	4	3	4	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1079C>A	p.Thr360Asn	p.T360N	ENST00000361833	5/23	204	188	16	220	220	0	strelka-varscan-mutect	ASTN1,missense_variant,p.Thr360Asn,ENST00000361833,NM_004319.2;ASTN1,missense_variant,p.Thr360Asn,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Thr360Asn,ENST00000424564,NM_207108.2;MIR488,upstream_gene_variant,,ENST00000365739,;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;ASTN1,non_coding_transcript_exon_variant,,ENST00000473640,;	T	ENST00000361833	Transcript	missense_variant	1093/7116	1079/3885	360/1294	T/N	aCc/aAc		1		-1	ASTN1	HGNC	HGNC:773	protein_coding	YES	CCDS1319.1	ENSP00000354536	O14525		UPI0000160388	NM_004319.2	deleterious_low_confidence(0)		5/23		hmmpanther:PTHR16592:SF8,hmmpanther:PTHR16592																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	177029675	177029675	G	T	1	0	0	0	0	1	0	0	0	1211	1261	44	2		2	ASTN1	1	177029675	Missense_Mutation	SNP	G	C3N-01414_TP	5445258	177029675	71926747	34	24740											
SEC16B	0	.	GRCh38	chr1	177958867	177958867	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcgacaaaggagaaccaaGagctgccacagtagagctga	15	4	13	9	1	0	4	0	1	0	3	0	6	0	4	2	2	4	3	2	2	4	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1107C>T	p.=	p.L369L	ENST00000308284	9/26	150	138	12	220	220	0	strelka-varscan-mutect	SEC16B,synonymous_variant,p.=,ENST00000308284,NM_033127.2;SEC16B,synonymous_variant,p.=,ENST00000464631,;SEC16B,synonymous_variant,p.=,ENST00000527976,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000354921,;SEC16B,3_prime_UTR_variant,,ENST00000528461,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000466953,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000464428,;SEC16B,upstream_gene_variant,,ENST00000526773,;	A	ENST00000308284	Transcript	synonymous_variant	1197/3985	1107/3183	369/1060	L	ctC/ctT		1		-1	SEC16B	HGNC	HGNC:30301	protein_coding	YES	CCDS44281.1	ENSP00000308339	Q96JE7		UPI0000203C4D	NM_033127.2			9/26		Low_complexity_(Seg):seg,hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF11,Pfam_domain:PF12932																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	177958867	177958867	G	A	1	0	0	0	0	0	0	0	1	14264	929	33	3		3	SEC16B	1	177958867	Silent	SNP	G	C3N-01414_TP	929192	177958867	70997555	35	24741											
CACNA1E	0	.	GRCh38	chr1	181785733	181785733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatgcccccatgttccaGcgcatggagccttcatctct	10	10	7	14	1	2	0	1	0	1	0	4	1	3	1	4	1	3	2	4	1	2	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.5700G>T	p.Gln1900His	p.Q1900H	ENST00000367573	43/48	349	292	57	386	386	0	strelka-varscan-mutect	CACNA1E,missense_variant,p.Gln1881His,ENST00000621791,NM_001205294.1;CACNA1E,missense_variant,p.Gln1900His,ENST00000621551,;CACNA1E,missense_variant,p.Gln1900His,ENST00000367567,;CACNA1E,missense_variant,p.Gln1881His,ENST00000358338,;CACNA1E,missense_variant,p.Gln1900His,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Gln1900His,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Gln1899His,ENST00000357570,;CACNA1E,missense_variant,p.Gln1881His,ENST00000360108,;	T	ENST00000367573	Transcript	missense_variant	5700/7067	5700/6942	1900/2313	Q/H	caG/caT		1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1	tolerated(0.11)		43/48		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	181785733	181785733	G	T	1	0	0	0	0	1	0	0	0	2230	962	34	2		2	CACNA1E	1	181785733	Missense_Mutation	SNP	G	C3N-01414_TP	3826866	181785733	67170689	36	24742											
CFH	0	.	GRCh38	chr1	196685210	196685210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaaatgcacaagtactGgctggatacctgctccgaga	13	7	10	11	1	0	1	0	0	0	1	1	3	1	2	2	2	5	5	2	2	5	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.937G>T	p.Gly313Cys	p.G313C	ENST00000367429	7/22	452	377	75	465	463	2	strelka-varscan-mutect	CFH,missense_variant,p.Gly313Cys,ENST00000367429,NM_000186.3;CFH,missense_variant,p.Gly313Cys,ENST00000630130,NM_001014975.2;CFH,missense_variant,p.Gly249Cys,ENST00000359637,;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;	T	ENST00000367429	Transcript	missense_variant	1177/4127	937/3696	313/1231	G/C	Ggc/Tgc		1		1	CFH	HGNC	HGNC:4883	protein_coding	YES	CCDS1385.1	ENSP00000356399	P08603	A0A024R962	UPI000013C4D1	NM_000186.3	deleterious(0)		7/22		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	196685210	196685210	G	T	1	0	0	0	0	1	0	0	0	3041	1348	47	2		2	CFH	1	196685210	Missense_Mutation	SNP	G	C3N-01414_TP	14899477	196685210	52271212	37	24743											
CRB1	0	.	GRCh38	chr1	197421515	197421515	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcatttcccacaacaccAgcgatggagagtggcatttc	10	11	9	11	1	1	1	1	0	0	1	3	3	2	1	2	2	2	2	2	2	1	3	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1687A>T	p.Ser563Cys	p.S563C	ENST00000367400	6/12	555	456	99	658	658	0	strelka-varscan-mutect	CRB1,missense_variant,p.Ser494Cys,ENST00000535699,NM_001257965.1;CRB1,missense_variant,p.Ser563Cys,ENST00000367400,NM_201253.2;CRB1,missense_variant,p.Ser451Cys,ENST00000367399,NM_001193640.1;CRB1,missense_variant,p.Ser563Cys,ENST00000538660,NM_001257966.1;CRB1,5_prime_UTR_variant,,ENST00000367397,;CRB1,downstream_gene_variant,,ENST00000476483,;CRB1,upstream_gene_variant,,ENST00000480086,;CRB1,missense_variant,p.Ser563Cys,ENST00000484075,;	T	ENST00000367400	Transcript	missense_variant	1822/4932	1687/4221	563/1406	S/C	Agc/Tgc		1		1	CRB1	HGNC	HGNC:2343	protein_coding	YES	CCDS1390.1	ENSP00000356370	P82279		UPI0000073345	NM_201253.2	deleterious(0)		6/12		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR24049,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs1193275021	.												T	3	4	77	197421515	197421515	A	T	1	0	0	0	0	1	0	0	0	3648	188	7	4		4	CRB1	1	197421515	Missense_Mutation	SNP	A	C3N-01414_TP	736305	197421515	51534907	38	24744											
CRB1	0	.	GRCh38	chr1	197435432	197435432	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacccctgtatccatggcaActgctctgacagagttgcag	11	9	9	12	0	1	2	0	1	1	1	2	2	2	2	3	1	4	5	3	1	3	2	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.3569A>T	p.Asn1190Ile	p.N1190I	ENST00000367400	9/12	78	46	32	86	86	0	strelka-varscan-mutect	CRB1,missense_variant,p.Asn571Ile,ENST00000367397,;CRB1,missense_variant,p.Asn1166Ile,ENST00000535699,NM_001257965.1;CRB1,missense_variant,p.Asn1190Ile,ENST00000367400,NM_201253.2;CRB1,missense_variant,p.Asn1078Ile,ENST00000367399,NM_001193640.1;CRB1,intron_variant,,ENST00000538660,NM_001257966.1;RP11-75C23.1,downstream_gene_variant,,ENST00000422250,;CRB1,missense_variant,p.Asn1190Ile,ENST00000484075,;	T	ENST00000367400	Transcript	missense_variant	3704/4932	3569/4221	1190/1406	N/I	aAc/aTc		1		1	CRB1	HGNC	HGNC:2343	protein_coding	YES	CCDS1390.1	ENSP00000356370	P82279		UPI0000073345	NM_201253.2	deleterious(0)		9/12		Gene3D:2gy5A03,Pfam_domain:PF00008,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24049,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	197435432	197435432	A	T	1	0	0	0	0	1	0	0	0	3648	43	2	4		4	CRB1	1	197435432	Missense_Mutation	SNP	A	C3N-01414_TP	13917	197435432	51520990	39	24745											
ATP2B4	0	.	GRCh38	chr1	203711059	203711059	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaatgagatcctcaccgAactgacctgtatcgcggtgg	10	9	12	10	3	1	3	1	3	0	2	3	6	2	3	3	2	1	1	3	2	3	1	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1982A>T	p.Glu661Val	p.E661V	ENST00000357681	12/21	386	311	75	389	389	0	strelka-varscan-mutect	ATP2B4,missense_variant,p.Glu661Val,ENST00000357681,NM_001684.4;ATP2B4,missense_variant,p.Glu661Val,ENST00000367218,NM_001001396.2;ATP2B4,missense_variant,p.Glu661Val,ENST00000341360,;	T	ENST00000357681	Transcript	missense_variant	3105/8968	1982/3618	661/1205	E/V	gAa/gTa		1		1	ATP2B4	HGNC	HGNC:817	protein_coding	YES	CCDS1440.1	ENSP00000350310	P23634	A0A024R968	UPI000002A464	NM_001684.4	deleterious(0)		12/21		hmmpanther:PTHR24093:SF276,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01517,Pfam_domain:PF00702,Gene3D:1.20.1110.10,Superfamily_domains:SSF56784,Superfamily_domains:SSF81660																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	203711059	203711059	A	T	1	0	0	0	0	1	0	0	0	1295	246	9	4		4	ATP2B4	1	203711059	Missense_Mutation	SNP	A	C3N-01414_TP	6275627	203711059	45245363	40	24746											
REN	0	.	GRCh38	chr1	204161305	204161305	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcaccacaggcagtgtaGagacggctgcacttggagga	10	7	14	10	1	1	1	1	0	1	1	2	4	1	3	1	4	1	4	1	4	1	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.360C>A	p.=	p.L120L	ENST00000272190	3/10	52	44	8	58	58	0	strelka-mutect	REN,synonymous_variant,p.=,ENST00000638118,;REN,synonymous_variant,p.=,ENST00000272190,NM_000537.3;	T	ENST00000272190	Transcript	synonymous_variant	389/1447	360/1221	120/406	L	ctC/ctA		1		-1	REN	HGNC	HGNC:9958	protein_coding	YES	CCDS30981.1	ENSP00000272190	P00797		UPI000000091F	NM_000537.3			3/10		Gene3D:2.40.70.10,Pfam_domain:PF00026,PROSITE_profiles:PS51767,hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF77,Superfamily_domains:SSF50630																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	77	204161305	204161305	G	T	1	0	0	0	0	0	0	0	1	13394	929	33	2		2	REN	1	204161305	Silent	SNP	G	C3N-01414_TP	450246	204161305	44795117	41	24747											
ESRRG	0	.	GRCh38	chr1	216677377	216677377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgtctgaagagccaccaggGctgtggtggttgacgctgtc	6	9	16	10	2	1	3	0	2	1	1	2	3	1	3	2	3	1	3	2	3	1	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.186C>A	p.Ser62Arg	p.S62R	ENST00000366937	3/8	274	238	36	345	345	0	strelka-varscan-mutect	ESRRG,missense_variant,p.Ser34Arg,ENST00000391890,NM_001243515.1,NM_001243519.1;ESRRG,missense_variant,p.Ser34Arg,ENST00000360012,NM_001243514.1;ESRRG,missense_variant,p.Ser62Arg,ENST00000366937,NM_001243518.1;ESRRG,missense_variant,p.Ser34Arg,ENST00000361525,NM_206594.2;ESRRG,missense_variant,p.Ser34Arg,ENST00000366940,NM_001134285.2,NM_001243511.2;ESRRG,missense_variant,p.Ser34Arg,ENST00000493603,NM_001243510.2;ESRRG,missense_variant,p.Ser34Arg,ENST00000366938,NM_001243513.1;ESRRG,missense_variant,p.Ser34Arg,ENST00000361395,;ESRRG,missense_variant,p.Ser57Arg,ENST00000408911,NM_001438.3;ESRRG,missense_variant,p.Ser34Arg,ENST00000359162,NM_206595.2,NM_001243506.1;ESRRG,missense_variant,p.Ser34Arg,ENST00000616180,;ESRRG,missense_variant,p.Ser34Arg,ENST00000463665,NM_001243507.1;ESRRG,missense_variant,p.Ser34Arg,ENST00000487276,NM_001243512.1;ESRRG,missense_variant,p.Ser34Arg,ENST00000493748,NM_001243509.1;ESRRG,missense_variant,p.Ser34Arg,ENST00000475275,;ESRRG,missense_variant,p.Ser34Arg,ENST00000481543,;ESRRG,missense_variant,p.Ser34Arg,ENST00000469486,;ESRRG,missense_variant,p.Ser34Arg,ENST00000459955,;ESRRG,intron_variant,,ENST00000586199,;	T	ENST00000366937	Transcript	missense_variant	453/5365	186/1413	62/470	S/R	agC/agA		1		-1	ESRRG	HGNC	HGNC:3474	protein_coding	YES	CCDS58061.1	ENSP00000355904	P62508		UPI0000D4BFAB	NM_001243518.1	deleterious(0)		3/8		Low_complexity_(Seg):seg,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF21,PIRSF_domain:PIRSF500939,PIRSF_domain:PIRSF002527																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	216677377	216677377	G	T	1	0	0	0	0	1	0	0	0	5124	1194	42	2		2	ESRRG	1	216677377	Missense_Mutation	SNP	G	C3N-01414_TP	12516072	216677377	32279045	42	24748											
CCDC185	0	.	GRCh38	chr1	223395319	223395319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtactagaggcccagctccGtgcctgtcagcagaacaggg	9	6	14	12	1	1	2	1	0	0	2	2	2	2	2	3	3	5	3	3	3	3	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1844G>T	p.Arg615Leu	p.R615L	ENST00000366875	1/1	36	31	5	45	45	0	strelka-varscan-mutect	CCDC185,missense_variant,p.Arg615Leu,ENST00000366875,NM_152610.2;	T	ENST00000366875	Transcript	missense_variant	1903/2054	1844/1872	615/623	R/L	cGt/cTt		1		1	CCDC185	HGNC	HGNC:26654	protein_coding	YES	CCDS1537.1	ENSP00000355840	Q8N715		UPI000006F948	NM_152610.2	tolerated(0.47)		1/1		hmmpanther:PTHR33663,hmmpanther:PTHR33663:SF3,Pfam_domain:PF15558																	MODERATE	1	SNV				1										PASS		rs1359211119	.												T	3	4	77	223395319	223395319	G	T	1	0	0	0	0	1	0	0	0	2501	1145	40	1		1	CCDC185	1	223395319	Missense_Mutation	SNP	G	C3N-01414_TP	6717942	223395319	25561103	43	24749											
PRSS38	0	.	GRCh38	chr1	227817412	227817412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgctcccggtttgccttgCaactccagaagtgaacctta	8	11	9	13	2	0	2	0	1	0	1	2	2	2	2	4	1	5	3	4	1	4	3			C3N-01414_TP	C3N-01414_NB	C	C																c.515C>A	p.Ala172Glu	p.A172E	ENST00000366757	3/5	359	332	27	329	329	0	strelka-varscan-mutect	PRSS38,missense_variant,p.Ala172Glu,ENST00000366757,NM_183062.2;	A	ENST00000366757	Transcript	missense_variant	539/1267	515/981	172/326	A/E	gCa/gAa	COSM3804149	1		1	PRSS38	HGNC	HGNC:29625	protein_coding	YES	CCDS1563.1	ENSP00000355719	A1L453		UPI00001BBB34	NM_183062.2	deleterious(0)		3/5		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24250,hmmpanther:PTHR24250:SF30,SMART_domains:SM00020,Superfamily_domains:SSF50494											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	77	227817412	227817412	C	A	1	0	0	0	0	1	0	0	0	12774	710	25	2		2	PRSS38	1	227817412	Missense_Mutation	SNP	C	C3N-01414_TP	4422093	227817412	21139010	44	24750											
OBSCN	0	.	GRCh38	chr1	228213676	228213676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatctgcgagacgccagaGggcagccgcacggtggcgga	9	4	16	12	5	1	2	0	0	1	2	1	4	1	3	2	4	3	2	2	4	1	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1224G>T	p.Glu408Asp	p.E408D	ENST00000570156	3/116	192	162	30	196	195	1	strelka-varscan-mutect	OBSCN,missense_variant,p.Glu408Asp,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Glu408Asp,ENST00000366707,;OBSCN,missense_variant,p.Glu408Asp,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Glu408Asp,ENST00000636875,;OBSCN,missense_variant,p.Glu408Asp,ENST00000284548,NM_052843.3;C1orf145,upstream_gene_variant,,ENST00000295012,;OBSCN,upstream_gene_variant,,ENST00000493977,;C1orf145,upstream_gene_variant,,ENST00000337335,;C1orf145,upstream_gene_variant,,ENST00000472613,;	T	ENST00000570156	Transcript	missense_variant	1298/26925	1224/26772	408/8923	E/D	gaG/gaT		1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2	tolerated(0.59)		3/116		PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409																	MODERATE		SNV	5			1										PASS		rs1331337644	.												T	3	4	77	228213676	228213676	G	T	1	0	0	0	0	1	0	0	0	10889	991	35	2		2	OBSCN	1	228213676	Missense_Mutation	SNP	G	C3N-01414_TP	396264	228213676	20742746	45	24751											
DISC1	0	.	GRCh38	chr1	231693826	231693826	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttttttcttttcttcccagGcagccgggattgcttaccac	5	16	8	12	1	2	0	0	0	2	0	3	1	3	1	3	2	3	3	3	2	1	8	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.68G>C	p.Gly23Ala	p.G23A	ENST00000366633	2/10	561	482	79	562	562	0	strelka-varscan-mutect	DISC1,missense_variant,p.Gly23Ala,ENST00000439617,NM_001164537.1,NM_018662.2;DISC1,missense_variant,p.Gly23Ala,ENST00000622252,;DISC1,missense_variant,p.Gly23Ala,ENST00000366637,NM_001012957.1;DISC1,missense_variant,p.Gly23Ala,ENST00000620189,NM_001164540.1;DISC1,missense_variant,p.Gly23Ala,ENST00000602281,NM_001164542.1,NM_001164544.1;DISC1,missense_variant,p.Gly23Ala,ENST00000366633,NM_001164539.1;DISC1,missense_variant,p.Gly23Ala,ENST00000539444,NM_001164545.1,NM_001164548.1;DISC1,missense_variant,p.Gly23Ala,ENST00000317586,NM_001012958.1;DISC1,missense_variant,p.Gly23Ala,ENST00000535983,NM_001164541.1,NM_001164538.1;DISC1,missense_variant,p.Gly23Ala,ENST00000628350,NM_001164546.1,NM_001164549.1,NM_001164547.1;DISC1,missense_variant,p.Gly23Ala,ENST00000537876,;DISC1,missense_variant,p.Gly23Ala,ENST00000366636,NM_001012959.1;DISC1,intron_variant,,ENST00000602873,NM_001164556.1;DISC1,splice_region_variant,,ENST00000602600,;TSNAX-DISC1,missense_variant,p.Ala166Pro,ENST00000602956,;DISC1,missense_variant,p.Gly23Ala,ENST00000535944,;DISC1,missense_variant,p.Gly23Ala,ENST00000295051,;DISC1,missense_variant,p.Gly23Ala,ENST00000602822,;DISC1,missense_variant,p.Gly23Ala,ENST00000602713,;DISC1,missense_variant,p.Gly23Ala,ENST00000602700,;DISC1,missense_variant,p.Gly23Ala,ENST00000366632,;TSNAX-DISC1,splice_region_variant,,ENST00000602962,;TSNAX-DISC1,splice_region_variant,,ENST00000602567,;TSNAX-DISC1,splice_region_variant,,ENST00000602634,;TSNAX-DISC1,splice_region_variant,,ENST00000602885,;DISC1,splice_region_variant,,ENST00000422590,;DISC1,splice_region_variant,,ENST00000468399,;	C	ENST00000366633	Transcript	missense_variant,splice_region_variant	121/2676	68/2268	23/755	G/A	gGc/gCc		1		1	DISC1	HGNC	HGNC:2888	protein_coding	YES	CCDS53482.1	ENSP00000355593	Q9NRI5		UPI0001A61692	NM_001164539.1	deleterious(0.01)		2/10		hmmpanther:PTHR14332,hmmpanther:PTHR14332:SF4																	MODERATE	1	SNV	1			1										PASS		rs1312907239	.												C	3	2	77	231693826	231693826	G	C	1	0	0	0	0	1	0	0	0	4344	1217	42	4		4	DISC1	1	231693826	Missense_Mutation	SNP	G	C3N-01414_TP	3480150	231693826	17262596	46	24752											
SLC35F3	0	.	GRCh38	chr1	234316668	234316668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctgatggcttccacagcCactccgtcatcggcatcgca	8	8	9	16	4	1	1	1	1	0	0	5	1	3	1	3	2	1	4	3	2	0	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.895C>A	p.His299Asn	p.H299N	ENST00000366618	5/8	140	120	20	120	120	0	strelka-varscan-mutect	SLC35F3,missense_variant,p.His299Asn,ENST00000366618,NM_173508.3;SLC35F3,missense_variant,p.His230Asn,ENST00000366617,NM_001300845.1;	A	ENST00000366618	Transcript	missense_variant	1040/2891	895/1473	299/490	H/N	Cac/Aac		1		1	SLC35F3	HGNC	HGNC:23616	protein_coding	YES	CCDS1600.1	ENSP00000355577	Q8IY50		UPI000006DD13	NM_173508.3	tolerated(0.54)		5/8		hmmpanther:PTHR19346,hmmpanther:PTHR19346:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	77	234316668	234316668	C	A	1	0	0	0	0	1	0	0	0	14861	594	21	2		2	SLC35F3	1	234316668	Missense_Mutation	SNP	C	C3N-01414_TP	2622842	234316668	14639754	47	24753											
RYR2	0	.	GRCh38	chr1	237784431	237784431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttcttctccattctgaCggtcaggtcggccctgtttg	3	15	11	12	2	4	1	1	1	3	0	6	1	4	1	2	4	0	2	2	4	0	4			C3N-01414_TP	C3N-01414_NB	C	C																c.12719C>T	p.Thr4240Met	p.T4240M	ENST00000366574	90/105	690	626	64	688	688	0	strelka-varscan-mutect	RYR2,missense_variant,p.Thr4240Met,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Thr4224Met,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	T	ENST00000366574	Transcript	missense_variant	13036/16562	12719/14904	4240/4967	T/M	aCg/aTg	COSM5053275,COSM5053276	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.08)		90/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	77	237784431	237784431	C	T	1	0	0	0	0	1	0	0	0	14029	536	19	1		1	RYR2	1	237784431	Missense_Mutation	SNP	C	C3N-01414_TP	3467763	237784431	11171991	48	24754											
CHRM3	0	.	GRCh38	chr1	239908616	239908616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttaccctcatcggacaacCtgcaggtgcctgaggaggag	10	7	13	11	1	1	1	1	1	0	0	2	4	1	4	3	4	4	2	3	4	2	1	rs748889549		C3N-01414_TP	C3N-01414_NB	C	C																c.1165C>A	p.Leu389Met	p.L389M	ENST00000255380	5/5	131	106	25	130	130	0	strelka-varscan-mutect	CHRM3,missense_variant,p.Leu389Met,ENST00000255380,NM_000740.2;CHRM3,missense_variant,p.Leu389Met,ENST00000615928,;CHRM3,downstream_gene_variant,,ENST00000448020,;	A	ENST00000255380	Transcript	missense_variant	1944/8780	1165/1773	389/590	L/M	Ctg/Atg	rs748889549	1		1	CHRM3	HGNC	HGNC:1952	protein_coding	YES	CCDS1616.1	ENSP00000255380	P20309	A0A024R3S2	UPI0000050453	NM_000740.2	tolerated(0.19)		5/5		Pfam_domain:PF00001,PROSITE_profiles:PS50262,SMART_domains:SM01381																	MODERATE	1	SNV	1			1										PASS		rs748889549	.												A	3	1	77	239908616	239908616	C	A	1	0	0	0	0	1	0	0	0	3138	680	24	2		2	CHRM3	1	239908616	Missense_Mutation	SNP	C	C3N-01414_TP	2124185	239908616	9047806	49	24755											
FMN2	0	.	GRCh38	chr1	240092204	240092204	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctggggcccagggatgTggaagccacaaagaagggga	11	4	18	8	1	0	1	0	0	0	1	0	4	0	4	2	6	2	1	2	6	3	0	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.95T>A	p.Val32Glu	p.V32E	ENST00000319653	1/18	114	80	34	122	122	0	strelka-varscan-mutect	FMN2,missense_variant,p.Val32Glu,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,intron_variant,,ENST00000447095,;	A	ENST00000319653	Transcript	missense_variant	325/6434	95/5169	32/1722	V/E	gTg/gAg		1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4	tolerated_low_confidence(0.08)		1/18																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	77	240092204	240092204	T	A	1	0	0	0	0	1	0	0	0	5806	1696	59	4		4	FMN2	1	240092204	Missense_Mutation	SNP	T	C3N-01414_TP	183588	240092204	8864218	50	24756											
PLD5	0	.	GRCh38	chr1	242100746	242100746	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgattcttttgttcttttgTagcacaagcattctctcttt	6	21	6	8	0	4	1	0	1	4	0	5	1	4	1	0	0	2	4	0	0	2	9	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.1276A>G	p.Thr426Ala	p.T426A	ENST00000536534	9/10	263	237	26	280	280	0	strelka-varscan-mutect	PLD5,missense_variant,p.Thr426Ala,ENST00000536534,;PLD5,missense_variant,p.Thr426Ala,ENST00000442594,NM_001320272.1,NM_152666.2;PLD5,missense_variant,p.Thr364Ala,ENST00000427495,NM_001195812.1,NM_001195811.1;PLD5,3_prime_UTR_variant,,ENST00000314833,;PLD5,3_prime_UTR_variant,,ENST00000366545,;	C	ENST00000536534	Transcript	missense_variant	1518/8721	1276/1611	426/536	T/A	Aca/Gca		1		-1	PLD5	HGNC	HGNC:26879	protein_coding	YES	CCDS1621.2	ENSP00000440896	Q8N7P1		UPI000040E1A4		tolerated(0.67)		9/10		hmmpanther:PTHR10185:SF9,hmmpanther:PTHR10185,Gene3D:3.30.870.10,Superfamily_domains:SSF56024																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	242100746	242100746	T	C	1	0	0	0	0	1	0	0	0	12143	1638	57	5		5	PLD5	1	242100746	Missense_Mutation	SNP	T	C3N-01414_TP	2008542	242100746	6855676	51	24757											
HNRNPU	0	.	GRCh38	chr1	244856727	244856727	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatttcaaagctacagcgtaCctgatccagaataaaatttc	16	11	5	9	1	1	2	1	1	0	1	3	2	2	2	2	0	4	2	2	0	7	5	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1743+1G>A		p.X581_splice	ENST00000283179		140	125	15	141	141	0	strelka-varscan-mutect	HNRNPU,splice_donor_variant,,ENST00000444376,NM_004501.3;HNRNPU,splice_donor_variant,,ENST00000283179,NM_031844.2;HNRNPU,downstream_gene_variant,,ENST00000440865,;HNRNPU,splice_donor_variant,,ENST00000366525,;HNRNPU,splice_donor_variant,,ENST00000483966,;HNRNPU,splice_donor_variant,,ENST00000468690,;HNRNPU,downstream_gene_variant,,ENST00000465881,;HNRNPU,upstream_gene_variant,,ENST00000475997,;HNRNPU,upstream_gene_variant,,ENST00000489705,;	T	ENST00000283179	Transcript	splice_donor_variant	-/3704	1743/2478	581/825				1		-1	HNRNPU	HGNC	HGNC:5048	protein_coding	YES	CCDS41479.1	ENSP00000283179	Q00839		UPI000040E1C8	NM_031844.2				9/13																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	77	244856727	244856727	C	T	1	0	0	0	0	0	0	1	0	7168	521	18	3		3	HNRNPU	1	244856727	Splice_Site	SNP	C	C3N-01414_TP	2755981	244856727	4099695	52	24758											
KIF26B	0	.	GRCh38	chr1	245684285	245684285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggggaacatgaactgcCgtaccaccatgatcgcgcac	10	7	10	14	3	1	2	0	2	1	0	2	3	1	3	3	2	4	2	3	2	3	1	rs373588212		C3N-01414_TP	C3N-01414_NB	C	C																c.2311C>A	p.Arg771Ser	p.R771S	ENST00000407071	11/15	174	100	74	199	199	0	strelka-varscan-mutect	KIF26B,missense_variant,p.Arg390Ser,ENST00000366518,;KIF26B,missense_variant,p.Arg771Ser,ENST00000407071,NM_018012.3;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;	A	ENST00000407071	Transcript	missense_variant	2751/7287	2311/6327	771/2108	R/S	Cgt/Agt	rs373588212,COSM4165118,COSM4165119	1		1	KIF26B	HGNC	HGNC:25484	protein_coding	YES	CCDS44342.1	ENSP00000385545	Q2KJY2		UPI0000695D71	NM_018012.3	deleterious(0)		11/15		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs373588212	.												A	3	1	77	245684285	245684285	C	A	1	0	0	0	0	1	0	0	0	8160	652	23	1		1	KIF26B	1	245684285	Missense_Mutation	SNP	C	C3N-01414_TP	827558	245684285	3272137	53	24759											
GCSAML	0	.	GRCh38	chr1	247574148	247574148	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtgcttggcaggaaaaCgagaatggcagtggttctga	10	11	14	6	1	1	2	0	1	1	1	1	4	1	3	0	4	2	4	0	4	3	3	rs768929122		C3N-01414_TP	C3N-01414_NB	C	C																c.174C>A	p.Asn58Lys	p.N58K	ENST00000536561	7/7	205	186	19	243	242	1	strelka-varscan-mutect	GCSAML,missense_variant,p.Asn38Lys,ENST00000366491,NM_001281834.1;GCSAML,missense_variant,p.Asn58Lys,ENST00000536561,NM_001281853.1;GCSAML,missense_variant,p.Asn38Lys,ENST00000366489,NM_001281835.1;GCSAML,missense_variant,p.Asn26Lys,ENST00000623578,NM_001281837.1;GCSAML,missense_variant,p.Asn58Lys,ENST00000366488,NM_145278.4;GCSAML,missense_variant,p.Asn26Lys,ENST00000463359,;GCSAML,missense_variant,p.Asn26Lys,ENST00000527084,NM_001281836.1;GCSAML,missense_variant,p.Asn26Lys,ENST00000527541,NM_001281838.1;GCSAML,missense_variant,p.Asn26Lys,ENST00000529512,;GCSAML,missense_variant,p.Asn58Lys,ENST00000526896,;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;	A	ENST00000536561	Transcript	missense_variant	521/4063	174/408	58/135	N/K	aaC/aaA	rs768929122,COSM3771687	1		1	GCSAML	HGNC	HGNC:29583	protein_coding	YES	CCDS1635.1	ENSP00000446460	Q5JQS6		UPI000004EBD8	NM_001281853.1	tolerated(0.13)		7/7		Pfam_domain:PF15666,hmmpanther:PTHR35351,hmmpanther:PTHR35351:SF1,Low_complexity_(Seg):seg											0,1						MODERATE		SNV	4		0,1	1										PASS		rs768929122	.												A	3	1	77	247574148	247574148	C	A	1	0	0	0	0	1	0	0	0	6176	550	19	1		1	GCSAML	1	247574148	Missense_Mutation	SNP	C	C3N-01414_TP	1889863	247574148	1382274	54	24760											
OR2G2	0	.	GRCh38	chr1	247589109	247589109	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctcccacctgacagtGgtcaccatcttttatggaac	8	13	7	13	0	3	1	1	1	2	0	4	2	3	2	3	2	2	1	3	2	2	3	rs756487359		C3N-01414_TP	C3N-01414_NB	G	G																c.750G>A	p.=	p.V250V	ENST00000320065	1/1	265	238	27	302	302	0	strelka-varscan-mutect	OR2G2,synonymous_variant,p.=,ENST00000320065,NM_001001915.1;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;	A	ENST00000320065	Transcript	synonymous_variant	750/954	750/954	250/317	V	gtG/gtA	rs756487359,COSM680682	1		1	OR2G2	HGNC	HGNC:15007	protein_coding	YES	CCDS31092.1	ENSP00000326349	Q8NGZ5		UPI0000061EB9	NM_001001915.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF132,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						LOW		SNV			0,1	1										PASS		rs756487359	.												A	2	1	77	247589109	247589109	G	A	1	0	0	0	0	0	0	0	1	11076	1335	47	3		3	OR2G2	1	247589109	Silent	SNP	G	C3N-01414_TP	14961	247589109	1367313	55	24761											
OR2T12	0	.	GRCh38	chr1	248294885	248294885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcaaaggccttcttgcGggcttctgtagagcgcatga	7	10	15	9	2	2	2	0	1	2	1	2	2	2	2	1	4	2	4	1	4	2	4	rs200352170		C3N-01414_TP	C3N-01414_NB	G	G																c.694C>T	p.Arg232Cys	p.R232C	ENST00000317996	1/1	432	390	42	508	508	0	varscan-mutect	OR2T12,missense_variant,p.Arg232Cys,ENST00000317996,NM_001004692.1;	A	ENST00000317996	Transcript	missense_variant	694/963	694/963	232/320	R/C	Cgc/Tgc	rs200352170,COSM3400604	1		-1	OR2T12	HGNC	HGNC:19592	protein_coding	YES	CCDS31110.1	ENSP00000324583	Q8NG77		UPI000004B235	NM_001004692.1	tolerated(0.05)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs200352170	.												A	3	1	77	248294885	248294885	G	A	1	0	0	0	0	1	0	0	0	11096	1116	39	1		1	OR2T12	1	248294885	Missense_Mutation	SNP	G	C3N-01414_TP	705776	248294885	661537	56	24762											
OR2T10	0	.	GRCh38	chr1	248593464	248593464	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcccaactgcaggtagaagTacatctgggtgccacaccca	11	7	9	14	0	1	1	0	0	1	1	2	1	2	1	3	2	4	3	3	2	4	2	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.305A>T	p.Tyr102Phe	p.Y102F	ENST00000330500	1/1	114	69	45	158	158	0	strelka-varscan-mutect	OR2T10,missense_variant,p.Tyr102Phe,ENST00000330500,NM_001004693.1;Y_RNA,downstream_gene_variant,,ENST00000364732,;	A	ENST00000330500	Transcript	missense_variant	305/939	305/939	102/312	Y/F	tAc/tTc		1		-1	OR2T10	HGNC	HGNC:19573	protein_coding	YES	CCDS31121.1	ENSP00000329210	Q8NGZ9	A0A126GV79	UPI000004F23B	NM_001004693.1	tolerated(1)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF101,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	77	248593464	248593464	T	A	1	0	0	0	0	1	0	0	0	11095	1638	57	4		4	OR2T10	1	248593464	Missense_Mutation	SNP	T	C3N-01414_TP	298579	248593464	362958	57	24763											
OR14I1	0	.	GRCh38	chr1	248681943	248681943	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggggtggcaaatggcaacaTagcggtcataagacatgaca	14	6	14	7	1	1	2	1	1	0	1	1	2	1	2	0	5	2	2	0	5	4	2	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.362A>T	p.Tyr121Phe	p.Y121F	ENST00000342623	1/1	295	193	102	329	329	0	strelka-varscan-mutect	OR14I1,missense_variant,p.Tyr121Phe,ENST00000342623,NM_001004734.1;	A	ENST00000342623	Transcript	missense_variant	362/936	362/936	121/311	Y/F	tAt/tTt		1		-1	OR14I1	HGNC	HGNC:19575	protein_coding	YES	CCDS31125.1	ENSP00000339726	A6ND48		UPI0000199BC9	NM_001004734.1	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF316,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1470562860	.												A	3	1	77	248681943	248681943	T	A	1	0	0	0	0	1	0	0	0	11024	1406	49	4		4	OR14I1	1	248681943	Missense_Mutation	SNP	T	C3N-01414_TP	88479	248681943	274479	58	24764											
SNTG2	0	.	GRCh38	chr2	1237998	1237998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtctcagccaacatcaGggagctgacacttcagaacg	11	6	12	12	2	3	2	3	1	1	1	4	3	3	3	1	3	4	1	1	3	2	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.830G>T	p.Arg277Met	p.R277M	ENST00000308624	10/17	148	118	30	166	165	1	strelka-varscan-mutect	SNTG2,missense_variant,p.Arg277Met,ENST00000308624,NM_018968.3;SNTG2,missense_variant,p.Arg150Met,ENST00000407292,;SNTG2,intron_variant,,ENST00000494178,;	T	ENST00000308624	Transcript	missense_variant	959/1888	830/1620	277/539	R/M	aGg/aTg		1		1	SNTG2	HGNC	HGNC:13741	protein_coding	YES	CCDS46220.1	ENSP00000311837	Q9NY99		UPI0000456D73	NM_018968.3	tolerated(0.07)		10/17		hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF3,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	1237998	1237998	G	T	1	0	0	0	0	1	0	0	0	15195	1000	35	2		2	SNTG2	2	1237998	Missense_Mutation	SNP	G	C3N-01414_TP		1237998	240955531	59	24765											
SNTG2	0	.	GRCh38	chr2	1367422	1367422	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggtggcctccgtggaccCcggcttcatggacagtcaga	8	7	13	13	2	2	1	2	0	0	1	3	3	3	3	4	5	0	1	4	5	1	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1568C>G	p.Pro523Arg	p.P523R	ENST00000308624	17/17	238	200	38	273	273	0	strelka-varscan-mutect	SNTG2,missense_variant,p.Pro523Arg,ENST00000308624,NM_018968.3;SNTG2,missense_variant,p.Pro396Arg,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000471239,;SNTG2,non_coding_transcript_exon_variant,,ENST00000472606,;	G	ENST00000308624	Transcript	missense_variant	1697/1888	1568/1620	523/539	P/R	cCc/cGc		1		1	SNTG2	HGNC	HGNC:13741	protein_coding	YES	CCDS46220.1	ENSP00000311837	Q9NY99		UPI0000456D73	NM_018968.3	deleterious(0)		17/17		hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	77	1367422	1367422	C	G	1	0	0	0	0	1	0	0	0	15195	623	22	4		4	SNTG2	2	1367422	Missense_Mutation	SNP	C	C3N-01414_TP	129424	1367422	240826107	60	24766											
PXDN	0	.	GRCh38	chr2	1638918	1638918	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatttgtcccagatgcAtctgagcgtgtgctgaaggc	9	11	12	9	1	2	3	1	2	1	1	3	3	3	3	1	1	3	2	1	1	2	1	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.4134T>A	p.Asp1378Glu	p.D1378E	ENST00000252804	21/23	226	156	70	306	305	1	strelka-varscan-mutect	PXDN,missense_variant,p.Asp1378Glu,ENST00000252804,NM_012293.2;PXDN,downstream_gene_variant,,ENST00000477093,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;PXDN,intron_variant,,ENST00000453308,;PXDN,upstream_gene_variant,,ENST00000493654,;	T	ENST00000252804	Transcript	missense_variant	4185/6808	4134/4440	1378/1479	D/E	gaT/gaA		1		-1	PXDN	HGNC	HGNC:14966	protein_coding	YES	CCDS46221.1	ENSP00000252804	Q92626		UPI00001C1DC2	NM_012293.2	tolerated(1)		21/23																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	1638918	1638918	A	T	1	0	0	0	0	1	0	0	0	13001	214	8	4		4	PXDN	2	1638918	Missense_Mutation	SNP	A	C3N-01414_TP	271496	1638918	240554611	61	24767											
NT5C1B	0	.	GRCh38	chr2	18584741	18584741	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctgcgagtcccgggtctGgcggatttcccgcacgatgc	4	8	15	14	6	1	0	0	0	1	0	3	3	3	1	2	4	2	2	2	4	0	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.676C>G	p.Gln226Glu	p.Q226E	ENST00000359846	5/10	154	125	29	185	185	0	strelka-varscan-mutect	NT5C1B,missense_variant,p.Gln166Glu,ENST00000304081,NM_033253.3;NT5C1B,missense_variant,p.Gln226Glu,ENST00000359846,NM_001002006.2,NM_001199087.1,NM_001199088.1,NM_001199086.1;NT5C1B-RDH14,missense_variant,p.Gln226Glu,ENST00000532967,NM_001199104.1;NT5C1B-RDH14,missense_variant,p.Gln168Glu,ENST00000444297,NM_001199103.1;NT5C1B,upstream_gene_variant,,ENST00000418427,;NT5C1B,downstream_gene_variant,,ENST00000416783,;RNU6-1215P,upstream_gene_variant,,ENST00000384441,;NT5C1B,downstream_gene_variant,,ENST00000460052,;NT5C1B,synonymous_variant,p.=,ENST00000406971,;NT5C1B,non_coding_transcript_exon_variant,,ENST00000490687,;	C	ENST00000359846	Transcript	missense_variant	754/2475	676/1833	226/610	Q/E	Cag/Gag		1		-1	NT5C1B	HGNC	HGNC:17818	protein_coding	YES	CCDS33150.1	ENSP00000352904	Q96P26	A0A140VJC7	UPI000035B1B0	NM_001002006.2,NM_001199087.1,NM_001199088.1,NM_001199086.1	tolerated_low_confidence(1)		5/10		hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	18584741	18584741	G	C	1	0	0	0	0	1	0	0	0	10749	1357	47	4		4	NT5C1B	2	18584741	Missense_Mutation	SNP	G	C3N-01414_TP	16945823	18584741	223608788	62	24768											
APOB	0	.	GRCh38	chr2	21004326	21004326	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttcatccatatccatGcccacggtgcctacggctgg	7	11	8	15	2	3	0	2	0	1	0	5	0	5	0	4	3	3	1	4	3	2	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.12030C>A	p.=	p.G4010G	ENST00000233242	28/29	371	303	68	395	394	1	strelka-varscan-mutect	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	T	ENST00000233242	Transcript	synonymous_variant	12158/14121	12030/13692	4010/4563	G	ggC/ggA		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			28/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	77	21004326	21004326	G	T	1	0	0	0	0	0	0	0	1	907	1306	46	2		2	APOB	2	21004326	Silent	SNP	G	C3N-01414_TP	2419585	21004326	221189203	63	24769											
APOB	0	.	GRCh38	chr2	21009363	21009363	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtgagccaaagatgctGaacttaaagcctcctgtaac	13	10	8	10	0	1	3	1	2	0	1	2	3	2	3	3	0	5	2	3	0	5	2			C3N-01414_TP	C3N-01414_NB	G	G																c.7505C>A	p.Ser2502Ter	p.S2502*	ENST00000233242	26/29	423	279	144	483	483	0	strelka-varscan-mutect	APOB,stop_gained,p.Ser2502Ter,ENST00000233242,NM_000384.2;	T	ENST00000233242	Transcript	stop_gained	7633/14121	7505/13692	2502/4563	S/*	tCa/tAa	CM075985	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	HIGH	1	SNV	1		1	1										PASS		rs1282766946	.												T	4	4	77	21009363	21009363	G	T	1	0	0	0	0	0	1	0	0	907	1294	45	2		2	APOB	2	21009363	Nonsense_Mutation	SNP	G	C3N-01414_TP	5037	21009363	221184166	64	24770											
SLC8A1	0	.	GRCh38	chr2	40428560	40428560	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtcccttcgatggttttaTatggaacgataacatttcct	10	15	7	9	2	0	0	0	0	0	0	3	3	2	1	2	2	2	1	2	2	4	6	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.1721A>G	p.Tyr574Cys	p.Y574C	ENST00000403092	2/11	202	178	24	191	191	0	strelka-varscan-mutect	SLC8A1,missense_variant,p.Tyr574Cys,ENST00000406785,;SLC8A1,missense_variant,p.Tyr574Cys,ENST00000403092,;SLC8A1,missense_variant,p.Tyr574Cys,ENST00000405901,NM_001112800.1;SLC8A1,missense_variant,p.Tyr574Cys,ENST00000402441,NM_001112802.1;SLC8A1,missense_variant,p.Tyr574Cys,ENST00000405269,;SLC8A1,missense_variant,p.Tyr574Cys,ENST00000332839,NM_021097.2;SLC8A1,missense_variant,p.Tyr574Cys,ENST00000408028,NM_001112801.1,NM_001252624.1;SLC8A1,missense_variant,p.Tyr574Cys,ENST00000406391,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,missense_variant,p.Tyr571Cys,ENST00000407929,;	C	ENST00000403092	Transcript	missense_variant	1755/3178	1721/2922	574/973	Y/C	tAt/tGt		1		-1	SLC8A1	HGNC	HGNC:11068	protein_coding	YES	CCDS1806.1	ENSP00000384763	P32418		UPI000012FC46		deleterious(0)		2/11		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,SMART_domains:SM00237,Superfamily_domains:SSF141072,TIGRFAM_domain:TIGR00845																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	40428560	40428560	T	C	1	0	0	0	0	1	0	0	0	14989	1406	49	5		5	SLC8A1	2	40428560	Missense_Mutation	SNP	T	C3N-01414_TP	19419197	40428560	201764969	65	24771											
NRXN1	0	.	GRCh38	chr2	51028021	51028021	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcaggcggccgccgcGcgtcagaatcagctccagga	8	4	15	14	5	2	1	2	0	0	1	3	3	3	2	3	3	3	3	3	3	1	0			C3N-01414_TP	C3N-01414_NB	G	G																c.253C>G	p.Arg85Gly	p.R85G	ENST00000404971	2/24	106	85	21	110	110	0	strelka-varscan-mutect	NRXN1,missense_variant,p.Arg85Gly,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Arg85Gly,ENST00000625672,;NRXN1,missense_variant,p.Arg85Gly,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Arg85Gly,ENST00000401669,;NRXN1,missense_variant,p.Arg85Gly,ENST00000405472,;NRXN1,missense_variant,p.Arg85Gly,ENST00000405581,;NRXN1,missense_variant,p.Arg85Gly,ENST00000630543,;NRXN1,missense_variant,p.Arg85Gly,ENST00000637511,;NRXN1,missense_variant,p.Arg85Gly,ENST00000628515,;NRXN1,missense_variant,p.Arg85Gly,ENST00000626899,;NRXN1,upstream_gene_variant,,ENST00000636066,;NRXN1,upstream_gene_variant,,ENST00000627198,;NRXN1,upstream_gene_variant,,ENST00000496792,;AC007682.1,upstream_gene_variant,,ENST00000440698,;NRXN1,downstream_gene_variant,,ENST00000635310,;NRXN1,downstream_gene_variant,,ENST00000635126,;NRXN1,downstream_gene_variant,,ENST00000636599,;NRXN1,upstream_gene_variant,,ENST00000637679,;NRXN1,downstream_gene_variant,,ENST00000638060,;NRXN1,downstream_gene_variant,,ENST00000637006,;	C	ENST00000404971	Transcript	missense_variant	1593/7578	253/4644	85/1547	R/G	Cgc/Ggc	COSM1021560,COSM1021561,COSM1592153,COSM4314236	1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	deleterious(0.02)		2/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,SMART_domains:SM00282,Superfamily_domains:SSF49899											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												C	3	2	77	51028021	51028021	G	C	1	0	0	0	0	1	0	0	0	10724	1087	38	4		4	NRXN1	2	51028021	Missense_Mutation	SNP	G	C3N-01414_TP	10599461	51028021	191165508	66	24772											
TSPYL6	0	.	GRCh38	chr2	54254934	54254934	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaggttaaccacactggaaCccaaagggcctggggatctc	13	6	11	11	0	1	0	0	0	1	0	2	2	1	2	3	5	2	1	3	5	4	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1218G>A	p.=	p.G406G	ENST00000317802	1/1	96	85	11	130	129	1	strelka-varscan-mutect	TSPYL6,synonymous_variant,p.=,ENST00000317802,NM_001003937.2;ACYP2,intron_variant,,ENST00000394666,NM_138448.3;ACYP2,intron_variant,,ENST00000607452,;ACYP2,intron_variant,,ENST00000303536,;ACYP2,intron_variant,,ENST00000606865,;ACYP2,intron_variant,,ENST00000494922,;	T	ENST00000317802	Transcript	synonymous_variant	1339/3089	1218/1233	406/410	G	ggG/ggA		1		-1	TSPYL6	HGNC	HGNC:14521	protein_coding	YES	CCDS42682.1	ENSP00000417919	Q8N831	A0A140VJY4	UPI000006CF77	NM_001003937.2			1/1																			LOW		SNV				1										PASS		.	.												T	2	4	77	54254934	54254934	C	T	1	0	0	0	0	0	0	0	1	17170	494	18	3		3	TSPYL6	2	54254934	Silent	SNP	C	C3N-01414_TP	3226913	54254934	187938595	67	24773											
USP34	0	.	GRCh38	chr2	61331288	61331289	+	Frame_Shift_Del	DEL	TG	TG	-																															gtacttacagtgcatgttttTgtcttccttctctcacagtt																								novel		C3N-01414_TP	C3N-01414_NB	TG	TG																c.2917_2918delCA	p.Gln973LysfsTer8	p.Q973Kfs*8	ENST00000398571	20/80	210	172	38	306	306	0	sindel-varindel-pindel	USP34,frameshift_variant,p.Gln973LysfsTer8,ENST00000398571,NM_014709.3;	-	ENST00000398571	Transcript	frameshift_variant	2994-2995/11357	2917-2918/10641	973/3546	Q/X	CAa/a		1		-1	USP34	HGNC	HGNC:20066	protein_coding	YES	CCDS42686.1	ENSP00000381577	Q70CQ2		UPI0000410E09	NM_014709.3			20/80																			HIGH	1	deletion	2			1										PASS		.	.												-	7	5	77	61331288	61331288	TG	-	1	0	1	0	1	0	0	0	0	17607	1812	63	0		0	USP34	2	61331288	Frame_Shift_Del	DEL	TG	C3N-01414_TP	7076354	61331288	180862241	68	24774											
ASPRV1	0	.	GRCh38	chr2	69961355	69961355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagccagaggtttgggaCgacattggccccatcaaaag	11	7	13	10	1	1	1	1	0	0	1	1	3	1	2	3	3	2	2	3	3	2	2	rs554895120		C3N-01414_TP	C3N-01414_NB	C	C																c.334G>A	p.Val112Ile	p.V112I	ENST00000320256	1/1	223	202	21	230	230	0	strelka-varscan-mutect	ASPRV1,missense_variant,p.Val112Ile,ENST00000320256,NM_152792.2;PCBP1-AS1,downstream_gene_variant,,ENST00000435880,;PCBP1-AS1,downstream_gene_variant,,ENST00000630214,;PCBP1-AS1,downstream_gene_variant,,ENST00000419542,;PCBP1-AS1,downstream_gene_variant,,ENST00000627327,;PCBP1-AS1,downstream_gene_variant,,ENST00000629533,;PCBP1-AS1,downstream_gene_variant,,ENST00000627918,;PCBP1-AS1,downstream_gene_variant,,ENST00000627181,;PCBP1-AS1,downstream_gene_variant,,ENST00000628305,;PCBP1-AS1,downstream_gene_variant,,ENST00000626515,;PCBP1-AS1,downstream_gene_variant,,ENST00000625625,;PCBP1-AS1,downstream_gene_variant,,ENST00000628308,;PCBP1-AS1,downstream_gene_variant,,ENST00000626898,;PCBP1-AS1,downstream_gene_variant,,ENST00000629605,;PCBP1-AS1,downstream_gene_variant,,ENST00000630746,;PCBP1-AS1,downstream_gene_variant,,ENST00000630975,;PCBP1-AS1,downstream_gene_variant,,ENST00000630522,;PCBP1-AS1,downstream_gene_variant,,ENST00000625447,;PCBP1-AS1,downstream_gene_variant,,ENST00000627398,;PCBP1-AS1,downstream_gene_variant,,ENST00000628659,;PCBP1-AS1,downstream_gene_variant,,ENST00000627050,;PCBP1-AS1,downstream_gene_variant,,ENST00000626343,;PCBP1-AS1,downstream_gene_variant,,ENST00000628920,;PCBP1-AS1,downstream_gene_variant,,ENST00000628883,;PCBP1-AS1,downstream_gene_variant,,ENST00000630759,;PCBP1-AS1,downstream_gene_variant,,ENST00000629603,;PCBP1-AS1,downstream_gene_variant,,ENST00000629339,;PCBP1-AS1,downstream_gene_variant,,ENST00000628837,;PCBP1-AS1,downstream_gene_variant,,ENST00000613944,;PCBP1-AS1,downstream_gene_variant,,ENST00000631110,;PCBP1-AS1,downstream_gene_variant,,ENST00000625215,;PCBP1-AS1,downstream_gene_variant,,ENST00000631107,;PCBP1-AS1,downstream_gene_variant,,ENST00000625783,;PCBP1-AS1,downstream_gene_variant,,ENST00000628551,;PCBP1-AS1,downstream_gene_variant,,ENST00000626609,;PCBP1-AS1,downstream_gene_variant,,ENST00000629909,;PCBP1-AS1,downstream_gene_variant,,ENST00000596259,;PCBP1-AS1,downstream_gene_variant,,ENST00000626370,;PCBP1-AS1,downstream_gene_variant,,ENST00000628374,;PCBP1-AS1,downstream_gene_variant,,ENST00000625888,;PCBP1-AS1,downstream_gene_variant,,ENST00000626495,;PCBP1-AS1,downstream_gene_variant,,ENST00000629084,;PCBP1-AS1,downstream_gene_variant,,ENST00000628667,;PCBP1-AS1,downstream_gene_variant,,ENST00000625864,;PCBP1-AS1,downstream_gene_variant,,ENST00000626842,;PCBP1-AS1,downstream_gene_variant,,ENST00000627189,;PCBP1-AS1,downstream_gene_variant,,ENST00000629184,;PCBP1-AS1,downstream_gene_variant,,ENST00000629415,;PCBP1-AS1,downstream_gene_variant,,ENST00000629836,;PCBP1-AS1,downstream_gene_variant,,ENST00000626735,;PCBP1-AS1,downstream_gene_variant,,ENST00000626632,;PCBP1-AS1,downstream_gene_variant,,ENST00000628322,;PCBP1-AS1,downstream_gene_variant,,ENST00000627325,;PCBP1-AS1,downstream_gene_variant,,ENST00000629506,;PCBP1-AS1,downstream_gene_variant,,ENST00000625490,;PCBP1-AS1,downstream_gene_variant,,ENST00000627630,;PCBP1-AS1,downstream_gene_variant,,ENST00000625439,;PCBP1-AS1,downstream_gene_variant,,ENST00000630457,;PCBP1-AS1,downstream_gene_variant,,ENST00000628201,;PCBP1-AS1,downstream_gene_variant,,ENST00000625838,;PCBP1-AS1,downstream_gene_variant,,ENST00000413436,;PCBP1-AS1,downstream_gene_variant,,ENST00000630985,;PCBP1-AS1,downstream_gene_variant,,ENST00000630280,;PCBP1-AS1,downstream_gene_variant,,ENST00000626683,;PCBP1-AS1,downstream_gene_variant,,ENST00000625691,;PCBP1-AS1,downstream_gene_variant,,ENST00000628147,;PCBP1-AS1,downstream_gene_variant,,ENST00000418564,;PCBP1-AS1,downstream_gene_variant,,ENST00000457076,;PCBP1-AS1,downstream_gene_variant,,ENST00000415222,;PCBP1-AS1,downstream_gene_variant,,ENST00000626834,;	T	ENST00000320256	Transcript	missense_variant	911/2177	334/1032	112/343	V/I	Gtc/Atc	rs554895120,COSM4630792	1		-1	ASPRV1	HGNC	HGNC:26321	protein_coding	YES	CCDS1897.1	ENSP00000315383	Q53RT3		UPI0000140820	NM_152792.2	tolerated(0.2)		1/1		hmmpanther:PTHR37006											0,1						MODERATE	1	SNV			0,1	1										PASS		rs554895120	.												T	3	4	77	69961355	69961355	C	T	1	0	0	0	0	1	0	0	0	1205	536	19	1		1	ASPRV1	2	69961355	Missense_Mutation	SNP	C	C3N-01414_TP	8630067	69961355	172232174	69	24775											
RMND5A	0	.	GRCh38	chr2	86765184	86765184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagccatttgccctaaatCatcaaaaaggtgagtctaga	14	11	7	9	0	4	2	3	1	1	1	4	2	4	2	2	1	2	0	2	1	5	4	rs143570524		C3N-01414_TP	C3N-01414_NB	C	C																c.679C>T	p.His227Tyr	p.H227Y	ENST00000283632	5/9	94	72	22	120	120	0	strelka-varscan-mutect	RMND5A,missense_variant,p.His227Tyr,ENST00000283632,NM_022780.3;RMND5A,upstream_gene_variant,,ENST00000472843,;	T	ENST00000283632	Transcript	missense_variant	1174/6301	679/1176	227/391	H/Y	Cat/Tat	rs143570524,COSM108567	1		1	RMND5A	HGNC	HGNC:25850	protein_coding	YES	CCDS1991.1	ENSP00000283632	Q9H871		UPI000000DC2B	NM_022780.3	tolerated(0.17)		5/9		hmmpanther:PTHR12170,hmmpanther:PTHR12170:SF5,Pfam_domain:PF10607,SMART_domains:SM00757											1,1						MODERATE	1	SNV	1		0,1	1										PASS		rs143570524	.												T	3	4	77	86765184	86765184	C	T	1	0	0	0	0	1	0	0	0	13576	826	29	3		3	RMND5A	2	86765184	Missense_Mutation	SNP	C	C3N-01414_TP	16803829	86765184	155428345	70	24776											
SMYD1	0	.	GRCh38	chr2	88096614	88096614	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaattgagctccgggccctaGgcaagatctcagaaggagag	12	6	14	9	1	1	4	1	1	1	3	3	6	2	4	2	3	1	2	2	3	4	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.718G>C	p.Gly240Arg	p.G240R	ENST00000419482	6/10	110	100	10	144	144	0	strelka-varscan	SMYD1,missense_variant,p.Gly240Arg,ENST00000419482,NM_198274.3;SMYD1,missense_variant,p.Gly227Arg,ENST00000444564,;SMYD1,intron_variant,,ENST00000438570,;	C	ENST00000419482	Transcript	missense_variant	803/4433	718/1473	240/490	G/R	Ggc/Cgc		1		1	SMYD1	HGNC	HGNC:20986	protein_coding	YES	CCDS33240.1	ENSP00000393453	Q8NB12	A0A0A6YYB2	UPI000006EB68	NM_198274.3	tolerated(0.69)		6/10		PROSITE_profiles:PS50280,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF184,Pfam_domain:PF00856,Gene3D:2.170.270.10,SMART_domains:SM00317,Superfamily_domains:SSF82199																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	88096614	88096614	G	C	1	0	0	0	0	1	0	0	0	15142	1000	35	4		4	SMYD1	2	88096614	Missense_Mutation	SNP	G	C3N-01414_TP	1331430	88096614	154096915	71	24777											
SEMA4C	0	.	GRCh38	chr2	96861305	96861305	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaccagggcctggagcCgggcatcgtagaggaaggac	11	4	15	11	2	1	1	1	0	0	1	2	4	1	4	3	5	2	2	3	5	3	1	rs752586989		C3N-01414_TP	C3N-01414_NB	C	C																c.1823G>T	p.Arg608Leu	p.R608L	ENST00000305476	15/15	219	173	46	210	210	0	strelka-varscan-mutect	SEMA4C,missense_variant,p.Arg608Leu,ENST00000305476,NM_017789.4;ANKRD39,upstream_gene_variant,,ENST00000393537,NM_016466.5;SEMA4C,downstream_gene_variant,,ENST00000449330,;SEMA4C,downstream_gene_variant,,ENST00000442264,;ANKRD23,upstream_gene_variant,,ENST00000462692,;SEMA4C,non_coding_transcript_exon_variant,,ENST00000482925,;SEMA4C,non_coding_transcript_exon_variant,,ENST00000467747,;SEMA4C,non_coding_transcript_exon_variant,,ENST00000474420,;ANKRD39,upstream_gene_variant,,ENST00000443120,;	A	ENST00000305476	Transcript	missense_variant	1956/3545	1823/2502	608/833	R/L	cGg/cTg	rs752586989	1		-1	SEMA4C	HGNC	HGNC:10731	protein_coding	YES	CCDS2029.1	ENSP00000306844	Q9C0C4		UPI00001A7981	NM_017789.4	tolerated(0.1)		15/15		PROSITE_profiles:PS50835,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF16,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs752586989	.												A	3	1	77	96861305	96861305	C	A	1	0	0	0	0	1	0	0	0	14309	652	23	1		1	SEMA4C	2	96861305	Missense_Mutation	SNP	C	C3N-01414_TP	8764691	96861305	145332224	72	24778											
ZC3H6	0	.	GRCh38	chr2	112331263	112331263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccactggatcttagacttgCgtgggatcccaggaaattga	10	10	11	10	1	1	2	0	1	1	1	2	5	2	5	2	3	1	0	2	3	2	3	rs769924975		C3N-01414_TP	C3N-01414_NB	C	C																c.2345C>T	p.Ala782Val	p.A782V	ENST00000409871	12/12	254	227	27	310	310	0	strelka-varscan-mutect	ZC3H6,missense_variant,p.Ala782Val,ENST00000409871,NM_198581.2;ZC3H6,missense_variant,p.Ala782Val,ENST00000343936,;ZC3H6,upstream_gene_variant,,ENST00000502881,;	T	ENST00000409871	Transcript	missense_variant	2746/11542	2345/3570	782/1189	A/V	gCg/gTg	rs769924975,COSM1005516	1		1	ZC3H6	HGNC	HGNC:24762	protein_coding	YES	CCDS46393.1	ENSP00000386764	P61129		UPI00004215E8	NM_198581.2	tolerated(0.35)		12/12		hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF22											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs769924975	.												T	3	4	77	112331263	112331263	C	T	1	0	0	0	0	1	0	0	0	18146	768	27	1		1	ZC3H6	2	112331263	Missense_Mutation	SNP	C	C3N-01414_TP	15469958	112331263	129862266	73	24779											
IL37	0	.	GRCh38	chr2	112913062	112913062	+	Missense_Mutation	SNP	G	G	T																															gaaaatgggctctgaggactGggaaaaagatgaaccccagt																								novel		C3N-01414_TP	C3N-01414_NB	G	G																c.50G>T	p.Trp17Leu	p.W17L	ENST00000263326	1/5	84	76	8	148	147	1	strelka-varscan-mutect	IL37,missense_variant,p.Trp17Leu,ENST00000263326,NM_014439.3;IL37,missense_variant,p.Trp17Leu,ENST00000352179,NM_173202.1;IL37,missense_variant,p.Trp17Leu,ENST00000353225,NM_173204.1;IL37,missense_variant,p.Trp17Leu,ENST00000349806,NM_173203.1;IL37,upstream_gene_variant,,ENST00000311328,NM_173205.1;	T	ENST00000263326	Transcript	missense_variant	92/772	50/657	17/218	W/L	tGg/tTg		1		1	IL37	HGNC	HGNC:15563	protein_coding	YES	CCDS2103.1	ENSP00000263326	Q9NZH6		UPI000003C9C6	NM_014439.3	tolerated(0.52)		1/5		hmmpanther:PTHR10078:SF9,hmmpanther:PTHR10078																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	112913062	112913062	G	T	1	0	0	0	0	1	0	0	0	7598	1357	47	2		2	IL37	2	112913062	Missense_Mutation	SNP	G	C3N-01414_TP	581799	112913062	129280467	74	24780	514	2									
IL37	0	.	GRCh38	chr2	112913063	112913063	+	Missense_Mutation	SNP	G	G	T																															aaaatgggctctgaggactgGgaaaaagatgaaccccagtg																								novel		C3N-01414_TP	C3N-01414_NB	G	G																c.51G>T	p.Trp17Cys	p.W17C	ENST00000263326	1/5	85	77	8	146	145	1	strelka-mutect	IL37,missense_variant,p.Trp17Cys,ENST00000263326,NM_014439.3;IL37,missense_variant,p.Trp17Cys,ENST00000352179,NM_173202.1;IL37,missense_variant,p.Trp17Cys,ENST00000353225,NM_173204.1;IL37,missense_variant,p.Trp17Cys,ENST00000349806,NM_173203.1;IL37,upstream_gene_variant,,ENST00000311328,NM_173205.1;	T	ENST00000263326	Transcript	missense_variant	93/772	51/657	17/218	W/C	tgG/tgT		1		1	IL37	HGNC	HGNC:15563	protein_coding	YES	CCDS2103.1	ENSP00000263326	Q9NZH6		UPI000003C9C6	NM_014439.3	tolerated(0.2)		1/5		hmmpanther:PTHR10078:SF9,hmmpanther:PTHR10078																	MODERATE	1	SNV	1			1										PASS		rs1278412595	.												T	3	4	77	112913063	112913063	G	T	1	0	0	0	0	1	0	0	0	7598	1241	43	2		2	IL37	2	112913063	Missense_Mutation	SNP	G	C3N-01414_TP	1	112913063	129280466	75	24781	514	2									
MYO7B	0	.	GRCh38	chr2	127631266	127631266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggcccgtgcccgtggccaCctgtgggcctattcctgcga	3	9	13	16	3	0	0	0	0	0	0	1	1	1	0	6	3	2	0	6	3	1	2			C3N-01414_TP	C3N-01414_NB	C	C																c.4920C>A	p.His1640Gln	p.H1640Q	ENST00000428314	36/47	163	94	69	149	148	1	strelka-varscan-mutect	MYO7B,missense_variant,p.His1640Gln,ENST00000428314,NM_001080527.1;MYO7B,missense_variant,p.His1640Gln,ENST00000409816,;MYO7B,missense_variant,p.His493Gln,ENST00000409090,;RP11-286H15.1,upstream_gene_variant,,ENST00000609697,;MYO7B,non_coding_transcript_exon_variant,,ENST00000496841,;MYO7B,non_coding_transcript_exon_variant,,ENST00000491278,;MYO7B,upstream_gene_variant,,ENST00000494959,;	A	ENST00000428314	Transcript	missense_variant	4973/6715	4920/6351	1640/2116	H/Q	caC/caA	COSM398554,COSM398555	1		1	MYO7B	HGNC	HGNC:7607	protein_coding	YES	CCDS46405.1	ENSP00000415090	Q6PIF6		UPI00006C04F0	NM_001080527.1	tolerated(0.48)		36/47													1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	77	127631266	127631266	C	A	1	0	0	0	0	1	0	0	0	10084	506	18	2		2	MYO7B	2	127631266	Missense_Mutation	SNP	C	C3N-01414_TP	14718203	127631266	114562263	76	24782											
POTEI	0	.	GRCh38	chr2	130500593	130500593	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgattaaaaatttcaccActtgctgtttttgctcatgt	9	19	5	8	0	3	1	2	1	1	0	3	1	3	1	1	0	2	3	1	0	3	6	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.860T>C	p.Val287Ala	p.V287A	ENST00000451531	4/15	457	428	29	547	545	2	varscan-mutect	POTEI,missense_variant,p.Val287Ala,ENST00000451531,NM_001277406.1;POTEI,missense_variant,p.Val287Ala,ENST00000631234,;POTEI,missense_variant,p.Val287Ala,ENST00000615053,;RNU6-473P,upstream_gene_variant,,ENST00000516164,;	G	ENST00000451531	Transcript	missense_variant	1291/7020	860/3228	287/1075	V/A	gTg/gCg		1		-1	POTEI	HGNC	HGNC:37093	protein_coding	YES	CCDS59431.1	ENSP00000392718	P0CG38		UPI00006C04CB	NM_001277406.1	deleterious_low_confidence(0)		4/15		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	77	130500593	130500593	A	G	1	0	0	0	0	1	0	0	0	12382	159	6	5		5	POTEI	2	130500593	Missense_Mutation	SNP	A	C3N-01414_TP	2869327	130500593	111692936	77	24783											
POTEJ	0	.	GRCh38	chr2	130620094	130620094	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgagcaaaaacagcaagTggtgaaatttttaatcaaga	19	9	8	5	0	1	3	1	2	0	1	1	3	1	3	0	1	3	2	0	1	6	3	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.749T>C	p.Val250Ala	p.V250A	ENST00000409602	4/15	122	112	10	142	142	0	varscan-mutect	POTEJ,missense_variant,p.Val250Ala,ENST00000409602,NM_001277083.1;RNU6-848P,upstream_gene_variant,,ENST00000515948,;	C	ENST00000409602	Transcript	missense_variant	801/3383	749/3117	250/1038	V/A	gTg/gCg		1		1	POTEJ	HGNC	HGNC:37094	protein_coding	YES	CCDS59432.1	ENSP00000387176	P0CG39		UPI0000DD7A4B	NM_001277083.1	deleterious_low_confidence(0)		4/15		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	77	130620094	130620094	T	C	1	0	0	0	0	1	0	0	0	12383	1696	59	5		5	POTEJ	2	130620094	Missense_Mutation	SNP	T	C3N-01414_TP	119501	130620094	111573435	78	24784											
POTEJ	0	.	GRCh38	chr2	130646270	130646270	+	Missense_Mutation	SNP	A	A	T																															ggaagagcagaacacctgaaAgccagcaatttcctgacact																								novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1627A>T	p.Ser543Cys	p.S543C	ENST00000409602	13/15	27	22	5	38	38	0	varscan-mutect	POTEJ,missense_variant,p.Ser543Cys,ENST00000409602,NM_001277083.1;	T	ENST00000409602	Transcript	missense_variant	1679/3383	1627/3117	543/1038	S/C	Agc/Tgc		1		1	POTEJ	HGNC	HGNC:37094	protein_coding	YES	CCDS59432.1	ENSP00000387176	P0CG39		UPI0000DD7A4B	NM_001277083.1	deleterious_low_confidence(0.01)		13/15		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50																	MODERATE	1	SNV	5			1										PASS		rs1245073985	.												T	3	4	77	130646270	130646270	A	T	1	0	0	0	0	1	0	0	0	12383	72	3	4		4	POTEJ	2	130646270	Missense_Mutation	SNP	A	C3N-01414_TP	26176	130646270	111547259	79	24785	515	2									
POTEJ	0	.	GRCh38	chr2	130646271	130646271	+	Missense_Mutation	SNP	G	G	T																															gaagagcagaacacctgaaaGccagcaatttcctgacactg																								novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1628G>T	p.Ser543Ile	p.S543I	ENST00000409602	13/15	27	22	5	37	37	0	varscan-mutect	POTEJ,missense_variant,p.Ser543Ile,ENST00000409602,NM_001277083.1;	T	ENST00000409602	Transcript	missense_variant	1680/3383	1628/3117	543/1038	S/I	aGc/aTc		1		1	POTEJ	HGNC	HGNC:37094	protein_coding	YES	CCDS59432.1	ENSP00000387176	P0CG39		UPI0000DD7A4B	NM_001277083.1	tolerated_low_confidence(0.15)		13/15		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50																	MODERATE	1	SNV	5			1										PASS		rs1312138902	.												T	3	4	77	130646271	130646271	G	T	1	0	0	0	0	1	0	0	0	12383	971	34	2		2	POTEJ	2	130646271	Missense_Mutation	SNP	G	C3N-01414_TP	1	130646271	111547258	80	24786	515	2									
GPR148	0	.	GRCh38	chr2	130729690	130729690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggtggcctgctgcttccCcacattccttatttggctca	4	14	9	14	0	1	0	1	0	0	0	3	0	3	0	4	3	2	4	4	3	1	4	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.539C>A	p.Pro180His	p.P180H	ENST00000309926	1/1	202	162	40	239	239	0	strelka-varscan-mutect	GPR148,missense_variant,p.Pro180His,ENST00000309926,NM_207364.2;	A	ENST00000309926	Transcript	missense_variant	621/1267	539/1044	180/347	P/H	cCc/cAc		1		1	GPR148	HGNC	HGNC:23623	protein_coding	YES	CCDS2163.1	ENSP00000308908	Q8TDV2		UPI0000048E0D	NM_207364.2	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF114,hmmpanther:PTHR24243,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	77	130729690	130729690	C	A	1	0	0	0	0	1	0	0	0	6539	623	22	2		2	GPR148	2	130729690	Missense_Mutation	SNP	C	C3N-01414_TP	83419	130729690	111463839	81	24787											
LCT	0	.	GRCh38	chr2	135804862	135804862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggttccatcagggaGgatgcgagaccaggagatgg	9	7	17	8	1	1	2	1	0	0	2	2	6	2	4	3	6	1	1	3	6	0	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.4369C>T	p.Leu1457Phe	p.L1457F	ENST00000264162	10/17	274	228	46	346	346	0	strelka-varscan-mutect	LCT,missense_variant,p.Leu1457Phe,ENST00000264162,NM_002299.2;LCT,missense_variant,p.Leu889Phe,ENST00000452974,;	A	ENST00000264162	Transcript	missense_variant	4380/6279	4369/5784	1457/1927	L/F	Ctc/Ttc		1		-1	LCT	HGNC	HGNC:6530	protein_coding	YES	CCDS2178.1	ENSP00000264162	P09848		UPI000013D4D2	NM_002299.2	tolerated(0.19)		10/17		Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	135804862	135804862	G	A	1	0	0	0	0	1	0	0	0	8599	1000	35	3		3	LCT	2	135804862	Missense_Mutation	SNP	G	C3N-01414_TP	5075172	135804862	106388667	82	24788											
NXPH2	0	.	GRCh38	chr2	138671433	138671433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcctccgtttagttcttGccaatggctcctgaatctcc	5	15	8	13	1	2	1	0	1	2	0	5	1	4	1	5	2	1	3	5	2	3	5	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.284C>A	p.Ala95Glu	p.A95E	ENST00000272641	2/2	133	113	20	153	152	1	strelka-varscan-mutect	NXPH2,missense_variant,p.Ala95Glu,ENST00000272641,NM_007226.2;	T	ENST00000272641	Transcript	missense_variant	391/1052	284/795	95/264	A/E	gCa/gAa		1		-1	NXPH2	HGNC	HGNC:8076	protein_coding	YES	CCDS46421.1	ENSP00000272641	O95156		UPI000023FCD4	NM_007226.2	tolerated(0.26)		2/2		Pfam_domain:PF06312,PIRSF_domain:PIRSF038019,hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	138671433	138671433	G	T	1	0	0	0	0	1	0	0	0	10867	1319	46	2		2	NXPH2	2	138671433	Missense_Mutation	SNP	G	C3N-01414_TP	2866571	138671433	103522096	83	24789											
LRP1B	0	.	GRCh38	chr2	141020043	141020043	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttcctatggccatcatTggtccagtaaagattatttc	9	16	8	8	0	1	1	1	0	0	1	4	1	3	1	3	3	0	2	3	3	4	7	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.1849A>T	p.Asn617Tyr	p.N617Y	ENST00000389484	12/91	146	100	46	191	191	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Asn617Tyr,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	A	ENST00000389484	Transcript	missense_variant	2821/16535	1849/13800	617/4599	N/Y	Aat/Tat		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0)		12/91		PROSITE_profiles:PS51120,Pfam_domain:PF00058,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	141020043	141020043	T	A	1	0	0	0	0	1	0	0	0	8850	1812	63	4		4	LRP1B	2	141020043	Missense_Mutation	SNP	T	C3N-01414_TP	2348610	141020043	101173486	84	24790											
LYPD6B	0	.	GRCh38	chr2	149213050	149213050	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggaagaagcacatccatCaccaaaaagtgtgcctccag	15	5	8	13	1	1	1	1	0	0	1	3	2	3	2	4	1	2	1	4	1	4	0	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.387C>A	p.=	p.I129I	ENST00000409642	6/7	223	183	40	295	295	0	strelka-varscan-mutect	LYPD6B,synonymous_variant,p.=,ENST00000409642,NM_177964.3;LYPD6B,synonymous_variant,p.=,ENST00000409029,NM_001317004.1;LYPD6B,synonymous_variant,p.=,ENST00000409876,;LYPD6B,synonymous_variant,p.=,ENST00000280115,;LYPD6B,non_coding_transcript_exon_variant,,ENST00000498249,;LYPD6B,downstream_gene_variant,,ENST00000442722,;	A	ENST00000409642	Transcript	synonymous_variant	788/1577	387/624	129/207	I	atC/atA		1		1	LYPD6B	HGNC	HGNC:27018	protein_coding	YES	CCDS46423.1	ENSP00000387077	Q8NI32		UPI00001BDB14	NM_177964.3			6/7		Pfam_domain:PF16975,hmmpanther:PTHR31171,hmmpanther:PTHR31171:SF3,Superfamily_domains:SSF57302																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	149213050	149213050	C	A	1	0	0	0	0	0	0	0	1	9026	816	29	2		2	LYPD6B	2	149213050	Silent	SNP	C	C3N-01414_TP	8193007	149213050	92980479	85	24791											
TTC21B	0	.	GRCh38	chr2	165949607	165949607	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgtaccttccattaatgTgccataggcatgataaaacc	14	10	6	11	1	0	1	0	1	0	0	1	1	1	1	4	1	3	2	4	1	5	5	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.139A>G	p.Thr47Ala	p.T47A	ENST00000243344	2/29	427	389	38	521	521	0	strelka-varscan-mutect	TTC21B,missense_variant,p.Thr47Ala,ENST00000243344,NM_024753.4;TTC21B-AS1,non_coding_transcript_exon_variant,,ENST00000440322,;TTC21B-AS1,downstream_gene_variant,,ENST00000443032,;TTC21B,non_coding_transcript_exon_variant,,ENST00000464374,;TTC21B,non_coding_transcript_exon_variant,,ENST00000476227,;TTC21B-AS1,downstream_gene_variant,,ENST00000446624,;	C	ENST00000243344	Transcript	missense_variant	277/5482	139/3951	47/1316	T/A	Aca/Gca		1		-1	TTC21B	HGNC	HGNC:25660	protein_coding	YES	CCDS33315.1	ENSP00000243344	Q7Z4L5		UPI000020900A	NM_024753.4	tolerated(0.47)		2/29		hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF1,Gene3D:1.25.40.10																	MODERATE	1	SNV	1			1										PASS		rs1158269801	.												C	3	2	77	165949607	165949607	T	C	1	0	0	0	0	1	0	0	0	17196	1696	59	5		5	TTC21B	2	165949607	Missense_Mutation	SNP	T	C3N-01414_TP	16736557	165949607	76243922	86	24792											
PLEKHA3	0	.	GRCh38	chr2	178495618	178495618	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtttcaactgcaccatccGgatcccttagtttctcctgt	7	15	6	13	1	2	0	1	0	1	0	5	1	4	1	4	1	2	3	4	1	2	3	rs779469726		C3N-01414_TP	C3N-01414_NB	G	G																c.573G>T	p.=	p.P191P	ENST00000234453	5/8	149	117	32	157	157	0	strelka-varscan-mutect	PLEKHA3,synonymous_variant,p.=,ENST00000234453,NM_019091.3;PLEKHA3,upstream_gene_variant,,ENST00000421187,;PLEKHA3,downstream_gene_variant,,ENST00000461474,;PLEKHA3,downstream_gene_variant,,ENST00000453653,;	T	ENST00000234453	Transcript	synonymous_variant	975/13880	573/903	191/300	P	ccG/ccT	rs779469726	1		1	PLEKHA3	HGNC	HGNC:14338	protein_coding	YES	CCDS33336.1	ENSP00000234453	Q9HB20		UPI000000DA8A	NM_019091.3			5/8																			LOW	1	SNV	1			1										PASS		rs779469726	.												T	2	4	77	178495618	178495618	G	T	1	0	0	0	0	0	0	0	1	12150	1103	39	1		1	PLEKHA3	2	178495618	Silent	SNP	G	C3N-01414_TP	12546011	178495618	63697911	87	24793											
TTN	0	.	GRCh38	chr2	178633295	178633295	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaaacacctctactccGtacagaggcttttccacttt	11	11	4	15	1	1	1	0	0	1	1	3	1	3	1	4	1	4	2	4	1	4	5	rs369959066		C3N-01414_TP	C3N-01414_NB	G	G																c.42978C>T	p.=	p.Y14326Y	ENST00000589042	233/363	204	167	37	236	236	0	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.4;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN,downstream_gene_variant,,ENST00000414766,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000630096,;TTN-AS1,downstream_gene_variant,,ENST00000626954,;TTN-AS1,upstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589907,;TTN-AS1,upstream_gene_variant,,ENST00000418062,;TTN-AS1,downstream_gene_variant,,ENST00000628296,;	A	ENST00000589042	Transcript	synonymous_variant	43203/109224	42978/107976	14326/35991	Y	taC/taT	rs369959066,COSM4088610,COSM4088611,COSM4088612,COSM4088613	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			233/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726										likely_benign	0,1,1,1,1						LOW	1	SNV	5		1,1,1,1,1	1										PASS		rs369959066	.												A	2	1	77	178633295	178633295	G	A	1	0	0	0	0	0	0	0	1	17245	1140	40	1		1	TTN	2	178633295	Silent	SNP	G	C3N-01414_TP	137677	178633295	63560234	88	24794											
PDE1A	0	.	GRCh38	chr2	182188988	182188988	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagaattacctatttgtgActgggccaccatggttgact	10	13	9	9	0	1	3	1	2	0	1	1	3	1	3	3	2	1	1	3	2	3	4	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1246T>C	p.Ser416Pro	p.S416P	ENST00000435564	11/15	137	110	27	226	226	0	strelka-varscan-mutect	PDE1A,missense_variant,p.Ser416Pro,ENST00000435564,NM_005019.4,NM_001258312.1;PDE1A,missense_variant,p.Ser400Pro,ENST00000351439,NM_001258313.1;PDE1A,missense_variant,p.Ser400Pro,ENST00000409365,;PDE1A,missense_variant,p.Ser382Pro,ENST00000358139,NM_001258314.1;PDE1A,missense_variant,p.Ser416Pro,ENST00000410103,NM_001003683.2;	G	ENST00000435564	Transcript	missense_variant	1447/4885	1246/1638	416/545	S/P	Tca/Cca		1		-1	PDE1A	HGNC	HGNC:8774	protein_coding	YES	CCDS2285.1	ENSP00000410309	P54750		UPI0000001072	NM_005019.4,NM_001258312.1	deleterious(0)		11/15		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF32,Pfam_domain:PF00233,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604																	MODERATE	1	SNV	1			1										PASS		rs1481121989	.												G	3	3	77	182188988	182188988	A	G	1	0	0	0	0	1	0	0	0	11721	275	10	5		5	PDE1A	2	182188988	Missense_Mutation	SNP	A	C3N-01414_TP	3555693	182188988	60004541	89	24795											
CD28	0	.	GRCh38	chr2	203734902	203734902	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accacgcgacttcgcagcctAtcgctcctgacacggacgcc	8	6	9	18	6	0	1	0	1	0	0	3	3	1	2	4	1	1	2	4	1	1	2	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.653A>T	p.Tyr218Phe	p.Y218F	ENST00000324106	4/4	220	172	48	249	248	1	strelka-varscan-mutect	CD28,missense_variant,p.Tyr218Phe,ENST00000324106,NM_006139.3;CD28,missense_variant,p.Tyr99Phe,ENST00000374481,NM_001243078.1;CD28,missense_variant,p.Tyr232Phe,ENST00000458610,;	T	ENST00000324106	Transcript	missense_variant	802/4812	653/663	218/220	Y/F	tAt/tTt		1		1	CD28	HGNC	HGNC:1653	protein_coding	YES	CCDS2361.1	ENSP00000324890	P10747		UPI0000043F4D	NM_006139.3	deleterious(0)		4/4		hmmpanther:PTHR11494,hmmpanther:PTHR11494:SF7,Prints_domain:PR01717																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	203734902	203734902	A	T	1	0	0	0	0	1	0	0	0	2697	449	16	4		4	CD28	2	203734902	Missense_Mutation	SNP	A	C3N-01414_TP	21545914	203734902	38458627	90	24796											
ABCA12	0	.	GRCh38	chr2	214983778	214983778	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atacagactcccatgttcttCcgtaccgtgtgtaggtctgt	7	14	9	11	2	2	1	0	0	2	1	4	1	4	1	3	1	2	3	3	1	3	5	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.4251G>T	p.=	p.R1417R	ENST00000272895	29/53	403	321	82	670	670	0	strelka-varscan-mutect	ABCA12,synonymous_variant,p.=,ENST00000272895,NM_173076.2;ABCA12,synonymous_variant,p.=,ENST00000389661,NM_015657.3;	A	ENST00000272895	Transcript	synonymous_variant	4471/9100	4251/7788	1417/2595	R	cgG/cgT		1		-1	ABCA12	HGNC	HGNC:14637	protein_coding	YES	CCDS33372.1	ENSP00000272895	Q86UK0		UPI000019AB7A	NM_173076.2			29/53		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF29,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	214983778	214983778	C	A	1	0	0	0	0	0	0	0	1	34	842	30	2		2	ABCA12	2	214983778	Silent	SNP	C	C3N-01414_TP	11248876	214983778	27209751	91	24797											
NCL	0	.	GRCh38	chr2	231455435	231455435	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctctgccaccaaatccTcctcggcctcctctaccacc	6	8	5	22	2	2	0	0	0	2	0	6	0	5	0	9	2	2	0	9	2	2	1	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.2022A>T	p.=	p.G674G	ENST00000322723	13/14	363	281	82	461	461	0	strelka-varscan-mutect	NCL,synonymous_variant,p.=,ENST00000322723,NM_005381.2;NCL,downstream_gene_variant,,ENST00000356936,;AC017104.2,downstream_gene_variant,,ENST00000370380,;SNORA75,downstream_gene_variant,,ENST00000384158,;SNORD20,downstream_gene_variant,,ENST00000384550,;SNORD82,downstream_gene_variant,,ENST00000365530,;NCL,non_coding_transcript_exon_variant,,ENST00000461347,;NCL,downstream_gene_variant,,ENST00000494618,;NCL,downstream_gene_variant,,ENST00000466274,;	A	ENST00000322723	Transcript	synonymous_variant	2263/4034	2022/2133	674/710	G	ggA/ggT		1		-1	NCL	HGNC	HGNC:7667	protein_coding	YES	CCDS33397.1	ENSP00000318195	P19338	A0A024R4A0	UPI0000456F25	NM_005381.2			13/14		hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF392,Low_complexity_(Seg):seg,Superfamily_domains:SSF54928																	LOW	1	SNV	2			1										PASS		rs1253091814	.												A	2	1	77	231455435	231455435	T	A	1	0	0	0	0	0	0	0	1	10244	1538	54	4		4	NCL	2	231455435	Silent	SNP	T	C3N-01414_TP	16471657	231455435	10738094	92	24798											
ECEL1	0	.	GRCh38	chr2	232481796	232481796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcaccccagtcgtcgtagCcgtgggtcagctcatgtcca	6	9	10	16	3	3	0	3	0	0	0	6	0	4	0	5	1	2	2	5	1	1	1	rs760929496		C3N-01414_TP	C3N-01414_NB	C	C																c.1850G>A	p.Gly617Asp	p.G617D	ENST00000304546	13/18	141	127	14	185	185	0	strelka-varscan-mutect	ECEL1,missense_variant,p.Gly617Asp,ENST00000304546,NM_004826.3;ECEL1,missense_variant,p.Gly615Asp,ENST00000409941,NM_001290787.1;ECEL1,missense_variant,p.Gly32Asp,ENST00000411860,;ECEL1,non_coding_transcript_exon_variant,,ENST00000482346,;	T	ENST00000304546	Transcript	missense_variant	2061/2865	1850/2328	617/775	G/D	gGc/gAc	rs760929496	1		-1	ECEL1	HGNC	HGNC:3147	protein_coding	YES	CCDS2493.1	ENSP00000302051	O95672		UPI000013E997	NM_004826.3	deleterious(0)		13/18		Gene3D:3.40.390.10,Pfam_domain:PF01431,Prints_domain:PR00786,hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF108,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		rs760929496	.												T	3	4	77	232481796	232481796	C	T	1	0	0	0	0	1	0	0	0	4717	739	26	3		3	ECEL1	2	232481796	Missense_Mutation	SNP	C	C3N-01414_TP	1026361	232481796	9711733	93	24799											
DGKD	0	.	GRCh38	chr2	233454824	233454824	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattggcctggatgcgaagAtatccctggactttaacaac	11	10	10	10	1	0	1	0	0	0	1	1	4	1	3	2	3	3	1	2	3	4	4	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.2326A>T	p.Ile776Leu	p.I776L	ENST00000264057	19/30	155	138	17	263	263	0	strelka-varscan-mutect	DGKD,missense_variant,p.Ile776Leu,ENST00000264057,NM_152879.2;DGKD,missense_variant,p.Ile732Leu,ENST00000409813,NM_003648.2;DGKD,3_prime_UTR_variant,,ENST00000430834,;DGKD,non_coding_transcript_exon_variant,,ENST00000490764,;DGKD,upstream_gene_variant,,ENST00000471764,;	T	ENST00000264057	Transcript	missense_variant	2338/6297	2326/3645	776/1214	I/L	Ata/Tta		1		1	DGKD	HGNC	HGNC:2851	protein_coding	YES	CCDS2504.1	ENSP00000264057	Q16760		UPI000013D4AF	NM_152879.2	deleterious(0)		19/30		hmmpanther:PTHR11255:SF30,hmmpanther:PTHR11255,Pfam_domain:PF00609,SMART_domains:SM00045,Superfamily_domains:SSF111331																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	233454824	233454824	A	T	1	0	0	0	0	1	0	0	0	4273	333	12	4		4	DGKD	2	233454824	Missense_Mutation	SNP	A	C3N-01414_TP	973028	233454824	8738705	94	24800											
SH3BP4	0	.	GRCh38	chr2	235052741	235052741	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggacaggaacggggttgtGgacagcgaggtgagcagcgg	9	4	21	7	4	0	1	0	1	0	0	0	5	0	4	0	7	4	2	0	7	1	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.2658G>A	p.=	p.V886V	ENST00000409212	5/6	84	64	20	108	108	0	strelka-varscan-mutect	SH3BP4,synonymous_variant,p.=,ENST00000409212,;SH3BP4,synonymous_variant,p.=,ENST00000392011,NM_014521.2;SH3BP4,synonymous_variant,p.=,ENST00000344528,;	A	ENST00000409212	Transcript	synonymous_variant	3165/5231	2658/2892	886/963	V	gtG/gtA		1		1	SH3BP4	HGNC	HGNC:10826	protein_coding	YES	CCDS2513.1	ENSP00000386862	Q9P0V3		UPI000006DA47				5/6		hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF3																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	77	235052741	235052741	G	A	1	0	0	0	0	0	0	0	1	14504	1335	47	3		3	SH3BP4	2	235052741	Silent	SNP	G	C3N-01414_TP	1597917	235052741	7140788	95	24801											
HDAC4	0	.	GRCh38	chr2	239066772	239066772	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgaggcgtcgcaaatggCggtcaggtcgtggcctccct	5	9	14	13	5	1	0	1	0	0	0	5	1	3	0	3	5	0	1	3	5	1	1	rs761714997		C3N-01414_TP	C3N-01414_NB	C	C																c.2938G>T	p.Ala980Ser	p.A980S	ENST00000345617	24/27	241	194	47	363	363	0	strelka-varscan-mutect	HDAC4,missense_variant,p.Ala868Ser,ENST00000543185,;HDAC4,missense_variant,p.Ala980Ser,ENST00000345617,NM_006037.3;HDAC4,missense_variant,p.Ala71Ser,ENST00000430200,;MIR4440,downstream_gene_variant,,ENST00000583986,;HDAC4,non_coding_transcript_exon_variant,,ENST00000494800,;	A	ENST00000345617	Transcript	missense_variant	3730/8976	2938/3255	980/1084	A/S	Gcc/Tcc	rs761714997,COSM4128244	1		-1	HDAC4	HGNC	HGNC:14063	protein_coding	YES	CCDS2529.1	ENSP00000264606	P56524		UPI000013D541	NM_006037.3	deleterious(0.01)		24/27		hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF100,Pfam_domain:PF00850,Gene3D:3.40.800.20,PIRSF_domain:PIRSF037911,Superfamily_domains:SSF52768											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs761714997	.												A	3	1	77	239066772	239066772	C	A	1	0	0	0	0	1	0	0	0	6896	768	27	1		1	HDAC4	2	239066772	Missense_Mutation	SNP	C	C3N-01414_TP	4014031	239066772	3126757	96	24802											
AGXT	0	.	GRCh38	chr2	240875987	240875987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagcctgagagagagcctgGccctcattgcggaacaggtg	10	6	14	11	1	1	2	1	1	0	2	1	5	1	3	3	3	4	0	3	3	1	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.829G>T	p.Ala277Ser	p.A277S	ENST00000307503	8/11	332	249	83	496	495	1	strelka-varscan-mutect	AGXT,missense_variant,p.Ala277Ser,ENST00000307503,NM_000030.2;AGXT,non_coding_transcript_exon_variant,,ENST00000476698,;AGXT,upstream_gene_variant,,ENST00000470255,;AGXT,downstream_gene_variant,,ENST00000472436,;	T	ENST00000307503	Transcript	missense_variant	1216/1865	829/1179	277/392	A/S	Gcc/Tcc		1		1	AGXT	HGNC	HGNC:341	protein_coding	YES	CCDS2543.1	ENSP00000302620	P21549		UPI0000135E9B	NM_000030.2	tolerated(0.1)		8/11		Gene3D:3.40.640.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF000524,hmmpanther:PTHR21152,hmmpanther:PTHR21152:SF22,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		rs180177275	.												T	3	4	77	240875987	240875987	G	T	1	0	0	0	0	1	0	0	0	483	1203	42	2		2	AGXT	2	240875987	Missense_Mutation	SNP	G	C3N-01414_TP	1809215	240875987	1317542	97	24803											
BHLHE40	0	.	GRCh38	chr3	4983160	4983160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcgagtggggagcagagcgGcagcgacacggacacagaca	12	2	16	11	4	0	2	0	0	0	2	1	6	0	4	0	4	3	2	0	4	0	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.707G>T	p.Gly236Val	p.G236V	ENST00000256495	5/5	248	213	35	411	411	0	strelka-varscan-mutect	BHLHE40,missense_variant,p.Gly236Val,ENST00000256495,NM_003670.2;BHLHE40-AS1,upstream_gene_variant,,ENST00000620618,;BHLHE40-AS1,upstream_gene_variant,,ENST00000615178,;BHLHE40-AS1,upstream_gene_variant,,ENST00000441386,;BHLHE40,non_coding_transcript_exon_variant,,ENST00000467610,;BHLHE40,downstream_gene_variant,,ENST00000460806,;	T	ENST00000256495	Transcript	missense_variant	1310/3473	707/1239	236/412	G/V	gGc/gTc		1		1	BHLHE40	HGNC	HGNC:1046	protein_coding	YES	CCDS2565.1	ENSP00000256495	O14503	Q6IB83	UPI0000126923	NM_003670.2	deleterious(0.02)		5/5		hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF3,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	4983160	4983160	G	T	1	0	0	0	0	1	0	0	0	1571	1203	42	2		2	BHLHE40	3	4983160	Missense_Mutation	SNP	G	C3N-01414_TP		4983160	193312399	98	24804											
IQSEC1	0	.	GRCh38	chr3	12935571	12935571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctgagcgtctgctccCgcaggctgtcacgggacgat	5	9	14	13	4	2	1	1	1	1	0	3	3	3	2	1	2	3	5	1	2	0	1	rs760589697		C3N-01414_TP	C3N-01414_NB	C	C																c.1445G>T	p.Arg482Leu	p.R482L	ENST00000613206	3/14	222	172	50	385	385	0	strelka-varscan-mutect	IQSEC1,missense_variant,p.Arg496Leu,ENST00000273221,NM_014869.6;IQSEC1,missense_variant,p.Arg374Leu,ENST00000618604,;IQSEC1,missense_variant,p.Arg482Leu,ENST00000613206,NM_001134382.2;IQSEC1,downstream_gene_variant,,ENST00000473088,;	A	ENST00000613206	Transcript	missense_variant	1548/3582	1445/3345	482/1114	R/L	cGg/cTg	rs760589697	1		-1	IQSEC1	HGNC	HGNC:29112	protein_coding	YES	CCDS74902.1	ENSP00000480301		A0A087WWK8	UPI00017E10F8	NM_001134382.2	deleterious(0.01)		3/14		Low_complexity_(Seg):seg,hmmpanther:PTHR10663:SF63,hmmpanther:PTHR10663																	MODERATE	1	SNV	2			1										PASS		rs760589697	.												A	3	1	77	12935571	12935571	C	A	1	0	0	0	0	1	0	0	0	7723	652	23	1		1	IQSEC1	3	12935571	Missense_Mutation	SNP	C	C3N-01414_TP	7952411	12935571	185359988	99	24805											
GRIP2	0	.	GRCh38	chr3	14520467	14520467	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaggtggtggtgagcgaGatccccagggcagaccctgg	8	5	19	9	1	0	3	0	1	0	2	1	5	1	4	3	6	1	1	3	6	0	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1074C>A	p.=	p.I358I	ENST00000619221	9/25	268	240	28	403	402	1	strelka-varscan-mutect	GRIP2,synonymous_variant,p.=,ENST00000619221,;GRIP2,synonymous_variant,p.=,ENST00000621039,NM_001080423.3;GRIP2,synonymous_variant,p.=,ENST00000637182,;GRIP2,downstream_gene_variant,,ENST00000637939,;GRIP2,downstream_gene_variant,,ENST00000422481,;GRIP2,downstream_gene_variant,,ENST00000413414,;	T	ENST00000619221	Transcript	synonymous_variant	1074/7977	1074/3423	358/1140	I	atC/atA		1		-1	GRIP2	HGNC	HGNC:23841	protein_coding	YES		ENSP00000480660		A0A087WX15	UPI0001DD380B				9/25		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF42,SMART_domains:SM00228,Superfamily_domains:SSF50156																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	77	14520467	14520467	G	T	1	0	0	0	0	0	0	0	1	6669	932	33	2		2	GRIP2	3	14520467	Silent	SNP	G	C3N-01414_TP	1584896	14520467	183775092	100	24806											
FGD5	0	.	GRCh38	chr3	14901039	14901039	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccaaagtcacagaccgtgCcaacgacagcatggagcaag	14	4	10	13	2	1	1	1	0	0	1	2	3	2	2	3	1	4	2	3	1	3	0	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.3242C>A	p.Ala1081Asp	p.A1081D	ENST00000285046	9/20	175	129	46	328	328	0	strelka-varscan-mutect	FGD5,missense_variant,p.Ala840Asp,ENST00000543601,NM_001320276.1;FGD5,missense_variant,p.Ala1081Asp,ENST00000285046,NM_152536.3;FGD5,downstream_gene_variant,,ENST00000457774,;FGD5,non_coding_transcript_exon_variant,,ENST00000476851,;FGD5,non_coding_transcript_exon_variant,,ENST00000468662,;	A	ENST00000285046	Transcript	missense_variant	3352/5720	3242/4389	1081/1462	A/D	gCc/gAc		1		1	FGD5	HGNC	HGNC:19117	protein_coding	YES	CCDS46767.1	ENSP00000285046	Q6ZNL6		UPI00002372AE	NM_152536.3	deleterious(0)		9/20		PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065																	MODERATE	1	SNV	1			1										PASS		rs1474054082	.												A	3	1	77	14901039	14901039	C	A	1	0	0	0	0	1	0	0	0	5700	739	26	2		2	FGD5	3	14901039	Missense_Mutation	SNP	C	C3N-01414_TP	380572	14901039	183394520	101	24807											
PLCL2	0	.	GRCh38	chr3	17014837	17014837	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggtcctaaatctcagcGagcagtaccccacaatggag	12	8	10	11	1	1	0	1	0	1	0	3	2	2	1	3	2	3	2	3	2	5	3	rs866276568		C3N-01414_TP	C3N-01414_NB	G	G																c.2944G>T	p.Glu982Ter	p.E982*	ENST00000615277	3/6	295	218	77	423	422	1	strelka-varscan-mutect	PLCL2,stop_gained,p.Glu982Ter,ENST00000615277,NM_001144382.1;PLCL2,stop_gained,p.Glu856Ter,ENST00000432376,NM_015184.5;PLCL2,stop_gained,p.Glu600Ter,ENST00000419842,;PLCL2,downstream_gene_variant,,ENST00000460467,;	T	ENST00000615277	Transcript	stop_gained	3025/4147	2944/3384	982/1127	E/*	Gag/Tag	rs866276568,COSM1262429,COSM1692445	1		1	PLCL2	HGNC	HGNC:9064	protein_coding	YES	CCDS74911.1	ENSP00000478458	Q9UPR0		UPI0000242D01	NM_001144382.1			3/6		hmmpanther:PTHR10336:SF84,hmmpanther:PTHR10336											0,1,1						HIGH	1	SNV	1		0,1,1	1										PASS		rs866276568	.												T	4	4	77	17014837	17014837	G	T	1	0	0	0	0	0	1	0	0	12134	1059	37	1		1	PLCL2	3	17014837	Nonsense_Mutation	SNP	G	C3N-01414_TP	2113798	17014837	181280722	102	24808											
TTC21A	0	.	GRCh38	chr3	39131000	39131000	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatttaacagtccaagacAtcccatccatgatgaatgat	14	11	5	11	0	0	4	0	3	0	1	4	4	4	4	4	0	1	0	4	0	3	2	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.2488A>T	p.Ile830Phe	p.I830F	ENST00000431162	19/29	113	98	15	185	185	0	strelka-varscan-mutect	TTC21A,missense_variant,p.Ile830Phe,ENST00000431162,NM_145755.2;TTC21A,missense_variant,p.Ile782Phe,ENST00000440121,NM_001105513.2;TTC21A,upstream_gene_variant,,ENST00000493856,;TTC21A,upstream_gene_variant,,ENST00000472866,;TTC21A,upstream_gene_variant,,ENST00000481734,;TTC21A,downstream_gene_variant,,ENST00000466875,;TTC21A,downstream_gene_variant,,ENST00000471025,;TTC21A,missense_variant,p.Ile823Phe,ENST00000430597,;TTC21A,non_coding_transcript_exon_variant,,ENST00000473587,;	T	ENST00000431162	Transcript	missense_variant	2622/4209	2488/3963	830/1320	I/F	Atc/Ttc		1		1	TTC21A	HGNC	HGNC:30761	protein_coding	YES	CCDS46800.1	ENSP00000398211	Q8NDW8		UPI00015D46B9	NM_145755.2	deleterious(0.02)		19/29		PROSITE_profiles:PS50293,hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF2,Gene3D:1.25.40.10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	39131000	39131000	A	T	1	0	0	0	0	1	0	0	0	17195	217	8	4		4	TTC21A	3	39131000	Missense_Mutation	SNP	A	C3N-01414_TP	22116163	39131000	159164559	103	24809											
SMARCC1	0	.	GRCh38	chr3	47636034	47636034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaattacctgatttggtatCctcactcacttcactatcct	10	15	3	13	0	3	1	3	1	0	0	5	1	5	1	3	1	1	1	3	1	4	5	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.2479G>T	p.Asp827Tyr	p.D827Y	ENST00000254480	23/28	103	74	29	187	187	0	strelka-varscan-mutect	SMARCC1,missense_variant,p.Asp827Tyr,ENST00000254480,NM_003074.3;SMARCC1,non_coding_transcript_exon_variant,,ENST00000425518,;	A	ENST00000254480	Transcript	missense_variant	2599/6375	2479/3318	827/1105	D/Y	Gat/Tat		1		-1	SMARCC1	HGNC	HGNC:11104	protein_coding	YES	CCDS2758.1	ENSP00000254480	Q92922		UPI000013CE3B	NM_003074.3	deleterious(0)		23/28		Low_complexity_(Seg):seg,hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	47636034	47636034	C	A	1	0	0	0	0	1	0	0	0	15068	855	30	2		2	SMARCC1	3	47636034	Missense_Mutation	SNP	C	C3N-01414_TP	8505034	47636034	150659525	104	24810											
TRAIP	0	.	GRCh38	chr3	49832036	49832036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacggaaggatggccggCggagcttcagattcacctcc	9	7	12	13	3	3	1	3	0	0	1	4	4	4	4	3	5	1	1	3	5	1	2	rs368177362		C3N-01414_TP	C3N-01414_NB	C	C																c.917G>A	p.Arg306His	p.R306H	ENST00000331456	11/15	59	53	6	101	100	1	strelka-varscan-mutect	TRAIP,missense_variant,p.Arg306His,ENST00000331456,NM_005879.2;TRAIP,missense_variant,p.Arg151His,ENST00000469027,;TRAIP,non_coding_transcript_exon_variant,,ENST00000475495,;TRAIP,intron_variant,,ENST00000473195,;TRAIP,upstream_gene_variant,,ENST00000491060,;	T	ENST00000331456	Transcript	missense_variant	1031/2028	917/1410	306/469	R/H	cGc/cAc	rs368177362,COSM5399616	1		-1	TRAIP	HGNC	HGNC:30764	protein_coding	YES	CCDS2806.1	ENSP00000328203	Q9BWF2		UPI000006FE67	NM_005879.2	tolerated(0.72)		11/15		hmmpanther:PTHR22937,hmmpanther:PTHR22937:SF52											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs368177362	.												T	3	4	77	49832036	49832036	C	T	1	0	0	0	0	1	0	0	0	16931	768	27	1		1	TRAIP	3	49832036	Missense_Mutation	SNP	C	C3N-01414_TP	2196002	49832036	148463523	105	24811											
TRAIP	0	.	GRCh38	chr3	49841861	49841861	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtacacagccagctgttcCaccgctgactgtcccacacc	9	7	7	18	1	0	1	0	1	0	0	2	1	2	1	5	0	3	4	5	0	1	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.582G>A	p.=	p.V194V	ENST00000331456	7/15	167	148	19	265	265	0	strelka-varscan-mutect	TRAIP,synonymous_variant,p.=,ENST00000331456,NM_005879.2;TRAIP,synonymous_variant,p.=,ENST00000482582,;TRAIP,intron_variant,,ENST00000469027,;TRAIP,downstream_gene_variant,,ENST00000482243,;TRAIP,downstream_gene_variant,,ENST00000473863,;TRAIP,intron_variant,,ENST00000473195,;TRAIP,downstream_gene_variant,,ENST00000477546,;TRAIP,downstream_gene_variant,,ENST00000489948,;TRAIP,upstream_gene_variant,,ENST00000475495,;TRAIP,downstream_gene_variant,,ENST00000488860,;	T	ENST00000331456	Transcript	synonymous_variant	696/2028	582/1410	194/469	V	gtG/gtA		1		-1	TRAIP	HGNC	HGNC:30764	protein_coding	YES	CCDS2806.1	ENSP00000328203	Q9BWF2		UPI000006FE67	NM_005879.2			7/15		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22937,hmmpanther:PTHR22937:SF52,Superfamily_domains:SSF46579																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	77	49841861	49841861	C	T	1	0	0	0	0	0	0	0	1	16931	581	21	3		3	TRAIP	3	49841861	Silent	SNP	C	C3N-01414_TP	9825	49841861	148453698	106	24812											
STAB1	0	.	GRCh38	chr3	52511717	52511717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccccatcgacccctgccGggcaggcaatggcggctgcc	6	4	13	18	3	0	0	0	0	0	0	1	1	0	0	6	4	3	3	6	4	1	0	rs142570156		C3N-01414_TP	C3N-01414_NB	G	G																c.2855G>T	p.Arg952Leu	p.R952L	ENST00000321725	26/69	66	53	13	89	89	0	strelka-varscan-mutect	STAB1,missense_variant,p.Arg952Leu,ENST00000321725,NM_015136.2;STAB1,upstream_gene_variant,,ENST00000461325,;STAB1,downstream_gene_variant,,ENST00000481607,;STAB1,downstream_gene_variant,,ENST00000484850,;	T	ENST00000321725	Transcript	missense_variant	2931/7928	2855/7713	952/2570	R/L	cGg/cTg	rs142570156	1		1	STAB1	HGNC	HGNC:18628	protein_coding	YES	CCDS33768.1	ENSP00000312946	Q9NY15		UPI0000140C12	NM_015136.2	tolerated(0.51)		26/69		Gene3D:2.10.25.10,Pfam_domain:PF12947,PROSITE_profiles:PS50026,hmmpanther:PTHR24038,hmmpanther:PTHR24038:SF2,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		rs142570156	.												T	3	4	77	52511717	52511717	G	T	1	0	0	0	0	1	0	0	0	15615	1116	39	1		1	STAB1	3	52511717	Missense_Mutation	SNP	G	C3N-01414_TP	2669856	52511717	145783842	107	24813											
GXYLT2	0	.	GRCh38	chr3	72967660	72967660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttctgcatggaaaccgaGgcgtctaccatgacgataag	11	9	11	10	3	2	1	0	1	2	0	2	4	2	2	2	2	3	2	2	2	3	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1090G>T	p.Gly364Cys	p.G364C	ENST00000389617	6/7	193	166	27	322	322	0	strelka-varscan-mutect	GXYLT2,missense_variant,p.Gly364Cys,ENST00000389617,NM_001080393.1;GXYLT2,missense_variant,p.Gly125Cys,ENST00000491839,;	T	ENST00000389617	Transcript	missense_variant	1251/3260	1090/1332	364/443	G/C	Ggc/Tgc		1		1	GXYLT2	HGNC	HGNC:33383	protein_coding	YES	CCDS46870.1	ENSP00000374268	A0PJZ3		UPI00001D7E8F	NM_001080393.1	deleterious(0)		6/7		hmmpanther:PTHR12270,hmmpanther:PTHR12270:SF15,Gene3D:3.90.550.10,Superfamily_domains:SSF53448																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	77	72967660	72967660	G	T	1	0	0	0	0	1	0	0	0	6787	1000	35	2		2	GXYLT2	3	72967660	Missense_Mutation	SNP	G	C3N-01414_TP	20455943	72967660	125327899	108	24814											
PDZRN3	0	.	GRCh38	chr3	73388054	73388054	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctcttcacggttctgcaCctctatcccattaatctttt	7	16	4	14	1	5	0	1	0	4	0	6	0	6	0	3	1	2	2	3	1	2	6	rs367867225		C3N-01414_TP	C3N-01414_NB	C	C																c.1432G>T	p.Val478Leu	p.V478L	ENST00000263666	8/10	70	60	10	132	132	0	strelka-varscan-mutect	PDZRN3,missense_variant,p.Val478Leu,ENST00000263666,NM_015009.2;PDZRN3,missense_variant,p.Val135Leu,ENST00000462146,NM_001303141.1;PDZRN3,missense_variant,p.Val195Leu,ENST00000479530,NM_001303142.1;PDZRN3,missense_variant,p.Val135Leu,ENST00000466780,NM_001303140.1;PDZRN3,missense_variant,p.Val75Leu,ENST00000494559,;PDZRN3,missense_variant,p.Val176Leu,ENST00000492909,NM_001303139.1;PDZRN3,non_coding_transcript_exon_variant,,ENST00000466348,;PDZRN3,downstream_gene_variant,,ENST00000498048,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000478209,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000484487,;PDZRN3,downstream_gene_variant,,ENST00000477434,;	A	ENST00000263666	Transcript	missense_variant	1547/4248	1432/3201	478/1066	V/L	Gtg/Ttg	rs367867225	1		-1	PDZRN3	HGNC	HGNC:17704	protein_coding	YES	CCDS33789.1	ENSP00000263666	Q9UPQ7		UPI00001C1DE6	NM_015009.2	deleterious(0)		8/10		PROSITE_profiles:PS50106,hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		rs367867225	.												A	3	1	77	73388054	73388054	C	A	1	0	0	0	0	1	0	0	0	11797	507	18	2		2	PDZRN3	3	73388054	Missense_Mutation	SNP	C	C3N-01414_TP	420394	73388054	124907505	109	24815											
EPHA6	0	.	GRCh38	chr3	96987662	96987662	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgggtgatcgcatcctCaaactcaacactgaaattcg	12	11	8	10	2	2	2	2	2	0	0	5	3	3	2	1	1	2	1	1	1	3	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.783C>A	p.=	p.L261L	ENST00000389672	3/18	70	51	19	120	120	0	strelka-varscan-mutect	EPHA6,synonymous_variant,p.=,ENST00000389672,NM_001080448.2;EPHA6,synonymous_variant,p.=,ENST00000470610,;EPHA6,synonymous_variant,p.=,ENST00000506569,NM_001278301.1;	A	ENST00000389672	Transcript	synonymous_variant	821/3971	783/3393	261/1130	L	ctC/ctA		1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2			3/18		Gene3D:2.60.120.260,Pfam_domain:PF01404,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,SMART_domains:SM00615,Superfamily_domains:SSF49785																	LOW	1	SNV	2			1										PASS		rs1395356906	.												A	2	1	77	96987662	96987662	C	A	1	0	0	0	0	0	0	0	1	5018	813	29	2		2	EPHA6	3	96987662	Silent	SNP	C	C3N-01414_TP	23599608	96987662	101307897	110	24816											
ABI3BP	0	.	GRCh38	chr3	100752866	100752866	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaaattttttataccatgtCcttttgacatattgtttgcc	10	19	4	8	0	0	1	0	1	0	0	1	1	1	1	3	0	2	1	3	0	4	9	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.2910G>A	p.=	p.R970R	ENST00000284322	33/35	172	163	9	263	263	0	strelka-mutect	ABI3BP,synonymous_variant,p.=,ENST00000471714,;ABI3BP,synonymous_variant,p.=,ENST00000284322,NM_015429.3;ABI3BP,synonymous_variant,p.=,ENST00000495591,;TFG,downstream_gene_variant,,ENST00000240851,NM_006070.5,NM_001195478.1;TFG,downstream_gene_variant,,ENST00000476228,NM_001195479.1;TFG,downstream_gene_variant,,ENST00000418917,;TFG,downstream_gene_variant,,ENST00000490574,NM_001007565.2;TFG,downstream_gene_variant,,ENST00000615993,;TFG,downstream_gene_variant,,ENST00000481203,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000470336,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000487012,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000497021,;	T	ENST00000284322	Transcript	synonymous_variant	3020/4498	2910/3228	970/1075	R	agG/agA		1		-1	ABI3BP	HGNC	HGNC:17265	protein_coding	YES	CCDS46880.1	ENSP00000284322	Q7Z7G0		UPI000011C136	NM_015429.3			33/35		hmmpanther:PTHR23197:SF10,hmmpanther:PTHR23197																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	77	100752866	100752866	C	T	1	0	0	0	0	0	0	0	1	101	854	30	3		3	ABI3BP	3	100752866	Silent	SNP	C	C3N-01414_TP	3765204	100752866	97542693	111	24817											
IMPG2	0	.	GRCh38	chr3	101244609	101244609	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaattggtctttgactttGgaggtcaaggagtccaagcc	9	14	11	7	0	2	1	1	1	1	0	3	3	3	3	2	4	1	0	2	4	3	5			C3N-01414_TP	C3N-01414_NB	G	G																c.1722C>A	p.=	p.S574S	ENST00000193391	13/19	43	36	7	77	77	0	strelka-mutect	IMPG2,synonymous_variant,p.=,ENST00000193391,NM_016247.3;	T	ENST00000193391	Transcript	synonymous_variant	1910/8337	1722/3726	574/1241	S	tcC/tcA	COSM4471511	1		-1	IMPG2	HGNC	HGNC:18362	protein_coding	YES	CCDS2940.1	ENSP00000193391	Q9BZV3	F1T0J3	UPI000013C605	NM_016247.3			13/19		hmmpanther:PTHR12199,hmmpanther:PTHR12199:SF4											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	77	101244609	101244609	G	T	1	0	0	0	0	0	0	0	1	7631	1335	47	2		2	IMPG2	3	101244609	Silent	SNP	G	C3N-01414_TP	491743	101244609	97050950	112	24818											
HHLA2	0	.	GRCh38	chr3	108362358	108362358	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaccgagccaagaaacAgcttcccataacaaaggctt	16	7	7	11	1	0	2	0	0	0	2	1	3	1	2	3	1	5	2	3	1	6	4	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1020A>T	p.=	p.T340T	ENST00000357759	7/10	139	106	33	193	192	1	strelka-mutect	HHLA2,synonymous_variant,p.=,ENST00000357759,NM_007072.3;HHLA2,synonymous_variant,p.=,ENST00000482099,;HHLA2,synonymous_variant,p.=,ENST00000619531,NM_001282556.1;HHLA2,synonymous_variant,p.=,ENST00000489514,NM_001282557.1;HHLA2,synonymous_variant,p.=,ENST00000467761,;HHLA2,synonymous_variant,p.=,ENST00000467562,NM_001282559.1;HHLA2,synonymous_variant,p.=,ENST00000491820,NM_001282558.1;	T	ENST00000357759	Transcript	synonymous_variant	1434/2666	1020/1245	340/414	T	acA/acT		1		1	HHLA2	HGNC	HGNC:4905	protein_coding	YES	CCDS46883.1	ENSP00000350402	Q9UM44		UPI0000073CD9	NM_007072.3			7/10																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	77	108362358	108362358	A	T	1	0	0	0	0	0	0	0	1	6981	175	7	4		4	HHLA2	3	108362358	Silent	SNP	A	C3N-01414_TP	7117749	108362358	89933201	113	24819											
MORC1	0	.	GRCh38	chr3	109059810	109059810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccttgtgtcttacctttGtttctctttaagattctttt	7	22	4	8	0	3	1	0	0	3	1	4	1	3	1	2	0	2	1	2	0	3	9	rs551133230		C3N-01414_TP	C3N-01414_NB	G	G																c.1027C>A	p.Gln343Lys	p.Q343K	ENST00000232603	12/28	105	83	22	194	194	0	strelka-varscan-mutect	MORC1,missense_variant,p.Gln343Lys,ENST00000232603,NM_014429.3;MORC1,missense_variant,p.Gln343Lys,ENST00000483760,;	T	ENST00000232603	Transcript	missense_variant	1110/3764	1027/2955	343/984	Q/K	Caa/Aaa	rs551133230	1		-1	MORC1	HGNC	HGNC:7198	protein_coding	YES	CCDS2955.1	ENSP00000232603	Q86VD1		UPI000013C964	NM_014429.3	tolerated(0.16)		12/28		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23337:SF6,hmmpanther:PTHR23337																	MODERATE	1	SNV	1			1										PASS		rs551133230	.												T	3	4	77	109059810	109059810	G	T	1	0	0	0	0	1	0	0	0	9665	1391	48	2		2	MORC1	3	109059810	Missense_Mutation	SNP	G	C3N-01414_TP	697452	109059810	89235749	114	24820											
POPDC2	0	.	GRCh38	chr3	119648359	119648359	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaagggggtgtttgctggaGagaggtgggtgtggcctgag	7	9	21	4	0	0	2	0	1	0	1	0	4	0	3	1	6	1	2	1	6	1	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.910C>G	p.Leu304Val	p.L304V	ENST00000264231	3/4	155	130	25	262	262	0	strelka-varscan-mutect	POPDC2,missense_variant,p.Leu304Val,ENST00000493094,;POPDC2,missense_variant,p.Leu304Val,ENST00000264231,NM_022135.2;POPDC2,missense_variant,p.Leu304Val,ENST00000468801,NM_001308333.1;POPDC2,non_coding_transcript_exon_variant,,ENST00000474523,;POPDC2,downstream_gene_variant,,ENST00000468916,;POPDC2,downstream_gene_variant,,ENST00000463323,;POPDC2,missense_variant,p.Leu304Val,ENST00000341124,;POPDC2,downstream_gene_variant,,ENST00000476092,;	C	ENST00000264231	Transcript	missense_variant	1077/1679	910/1095	304/364	L/V	Ctc/Gtc		1		-1	POPDC2	HGNC	HGNC:17648	protein_coding	YES	CCDS2992.1	ENSP00000264231	Q9HBU9		UPI000000DAC2	NM_022135.2	tolerated(1)		3/4		hmmpanther:PTHR12101,hmmpanther:PTHR12101:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	119648359	119648359	G	C	1	0	0	0	0	1	0	0	0	12369	942	33	4		4	POPDC2	3	119648359	Missense_Mutation	SNP	G	C3N-01414_TP	10588549	119648359	78647200	115	24821											
CFAP100	0	.	GRCh38	chr3	126416403	126416403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaccagcctgcggcggCagctgcagctggaggacaag	10	3	15	13	2	0	0	0	0	0	0	0	2	0	2	2	4	6	5	2	4	1	0	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.313C>A	p.Gln105Lys	p.Q105K	ENST00000352312	5/17	164	152	12	223	223	0	strelka-varscan-mutect	CFAP100,missense_variant,p.Gln105Lys,ENST00000352312,NM_182628.2;CFAP100,missense_variant,p.Gln105Lys,ENST00000505024,;CFAP100,downstream_gene_variant,,ENST00000510833,;CFAP100,non_coding_transcript_exon_variant,,ENST00000533201,;CFAP100,upstream_gene_variant,,ENST00000507830,;CFAP100,upstream_gene_variant,,ENST00000503905,;	A	ENST00000352312	Transcript	missense_variant	412/2086	313/1836	105/611	Q/K	Cag/Aag		1		1	CFAP100	HGNC	HGNC:26842	protein_coding	YES	CCDS3037.1	ENSP00000344749	Q494V2		UPI000013E315	NM_182628.2	tolerated(0.1)		5/17		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21683:SF5,hmmpanther:PTHR21683																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	77	126416403	126416403	C	A	1	0	0	0	0	1	0	0	0	3010	711	25	2		2	CFAP100	3	126416403	Missense_Mutation	SNP	C	C3N-01414_TP	6768044	126416403	71879156	116	24822											
IL20RB	0	.	GRCh38	chr3	136989526	136989526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctggggccccagtttgaGttccttgtggcctactggag	5	11	14	11	0	0	1	0	1	0	0	1	3	1	2	5	4	1	2	5	4	1	4	rs201605222		C3N-01414_TP	C3N-01414_NB	G	G																c.492G>T	p.Glu164Asp	p.E164D	ENST00000329582	4/7	223	190	33	366	366	0	strelka-varscan-mutect	IL20RB,missense_variant,p.Glu164Asp,ENST00000329582,NM_144717.3;IL20RB,downstream_gene_variant,,ENST00000484501,;IL20RB,3_prime_UTR_variant,,ENST00000469964,;IL20RB,3_prime_UTR_variant,,ENST00000475972,;IL20RB,3_prime_UTR_variant,,ENST00000491483,;	T	ENST00000329582	Transcript	missense_variant	741/2047	492/936	164/311	E/D	gaG/gaT	rs201605222	1		1	IL20RB	HGNC	HGNC:6004	protein_coding	YES	CCDS3093.1	ENSP00000328133	Q6UXL0		UPI000003E7F6	NM_144717.3	tolerated(0.1)		4/7		hmmpanther:PTHR20859:SF48,hmmpanther:PTHR20859,Pfam_domain:PF09294,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs201605222	.												T	3	4	77	136989526	136989526	G	T	1	0	0	0	0	1	0	0	0	7572	1020	36	2		2	IL20RB	3	136989526	Missense_Mutation	SNP	G	C3N-01414_TP	10573123	136989526	61306033	117	24823											
SPSB4	0	.	GRCh38	chr3	141066388	141066388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaaggtgggccacgcccGcggcctgcacgcctggcaga	6	3	16	16	5	0	1	0	0	0	1	0	1	0	1	4	5	1	3	4	5	1	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.284G>T	p.Arg95Leu	p.R95L	ENST00000310546	2/3	57	43	14	97	97	0	strelka-varscan-mutect	SPSB4,missense_variant,p.Arg95Leu,ENST00000310546,NM_080862.2;SPSB4,upstream_gene_variant,,ENST00000508126,;	T	ENST00000310546	Transcript	missense_variant	1028/2908	284/822	95/273	R/L	cGc/cTc		1		1	SPSB4	HGNC	HGNC:30630	protein_coding	YES	CCDS3115.1	ENSP00000311609	Q96A44		UPI00000734A4	NM_080862.2	deleterious(0)		2/3		PROSITE_profiles:PS50188,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF3,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs1457468003	.												T	3	4	77	141066388	141066388	G	T	1	0	0	0	0	1	0	0	0	15471	1087	38	1		1	SPSB4	3	141066388	Missense_Mutation	SNP	G	C3N-01414_TP	4076862	141066388	57229171	118	24824											
MCF2L2	0	.	GRCh38	chr3	183228320	183228320	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgagaaagcaatgtgccaGaagttcagggttctcagcac	12	9	11	9	0	2	2	2	1	1	2	3	3	2	2	1	1	3	4	1	1	3	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.2092C>T	p.=	p.L698L	ENST00000328913	18/30	185	157	28	308	308	0	strelka-varscan-mutect	MCF2L2,synonymous_variant,p.=,ENST00000328913,NM_015078.3;MCF2L2,synonymous_variant,p.=,ENST00000473233,;MCF2L2,synonymous_variant,p.=,ENST00000447025,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000488149,;	A	ENST00000328913	Transcript	synonymous_variant	2390/4980	2092/3345	698/1114	L	Ctg/Ttg		1		-1	MCF2L2	HGNC	HGNC:30319	protein_coding	YES	CCDS3243.1	ENSP00000328118	Q86YR7		UPI00001A962F	NM_015078.3			18/30		PROSITE_profiles:PS50010,hmmpanther:PTHR22826:SF89,hmmpanther:PTHR22826,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	77	183228320	183228320	G	A	1	0	0	0	0	0	0	0	1	9311	933	33	3		3	MCF2L2	3	183228320	Silent	SNP	G	C3N-01414_TP	42161932	183228320	15067239	119	24825											
EHHADH	0	.	GRCh38	chr3	185192557	185192557	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaggatctcatcctggctaAtggtacgtggttcaatgtga	10	12	11	8	1	2	1	2	1	1	0	4	2	3	2	1	4	1	3	1	4	4	3	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1841T>A	p.Ile614Asn	p.I614N	ENST00000231887	7/7	156	134	22	297	297	0	strelka-varscan-mutect	EHHADH,missense_variant,p.Ile614Asn,ENST00000231887,NM_001966.3;EHHADH,missense_variant,p.Ile518Asn,ENST00000456310,NM_001166415.1;EHHADH-AS1,downstream_gene_variant,,ENST00000417720,;	T	ENST00000231887	Transcript	missense_variant	1917/3850	1841/2172	614/723	I/N	aTt/aAt		1		-1	EHHADH	HGNC	HGNC:3247	protein_coding	YES	CCDS33901.1	ENSP00000231887	Q08426		UPI000013C959	NM_001966.3	deleterious(0)		7/7		hmmpanther:PTHR23309:SF9,hmmpanther:PTHR23309																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	185192557	185192557	A	T	1	0	0	0	0	1	0	0	0	4818	101	4	4		4	EHHADH	3	185192557	Missense_Mutation	SNP	A	C3N-01414_TP	1964237	185192557	13103002	120	24826											
RTP1	0	.	GRCh38	chr3	187199988	187199988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctcaggctggaacttctGctctatcccctggtgcttgt	4	13	12	12	0	3	0	1	0	2	0	4	1	4	1	2	4	3	4	2	4	2	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.710G>T	p.Cys237Phe	p.C237F	ENST00000312295	2/2	24	20	4	37	37	0	strelka-varscan-mutect	RTP1,missense_variant,p.Cys237Phe,ENST00000312295,NM_153708.2;RP11-208N14.4,non_coding_transcript_exon_variant,,ENST00000356133,;	T	ENST00000312295	Transcript	missense_variant	740/2217	710/792	237/263	C/F	tGc/tTc		1		1	RTP1	HGNC	HGNC:28580	protein_coding	YES	CCDS3287.2	ENSP00000311712	P59025		UPI00004E18F3	NM_153708.2	tolerated(0.8)		2/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR14402,hmmpanther:PTHR14402:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	187199988	187199988	G	T	1	0	0	0	0	1	0	0	0	13993	1319	46	2		2	RTP1	3	187199988	Missense_Mutation	SNP	G	C3N-01414_TP	2007431	187199988	11095571	121	24827											
MASP1	0	.	GRCh38	chr3	187256787	187256787	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacaggcattcagagctcttGgggtaagggtttgggaagtc	9	11	15	6	0	2	1	1	0	1	1	3	2	2	2	0	5	2	4	0	5	3	5	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.621C>A	p.=	p.P207P	ENST00000296280	5/11	266	235	31	442	441	1	strelka-varscan-mutect	MASP1,synonymous_variant,p.=,ENST00000337774,NM_001879.5;MASP1,synonymous_variant,p.=,ENST00000296280,NM_139125.3;MASP1,synonymous_variant,p.=,ENST00000392472,;MASP1,synonymous_variant,p.=,ENST00000169293,NM_001031849.2;MASP1,synonymous_variant,p.=,ENST00000392470,;MASP1,downstream_gene_variant,,ENST00000392475,;MASP1,intron_variant,,ENST00000495249,;MASP1,downstream_gene_variant,,ENST00000490558,;MASP1,downstream_gene_variant,,ENST00000465015,;MASP1,non_coding_transcript_exon_variant,,ENST00000460839,;MASP1,upstream_gene_variant,,ENST00000483719,;	T	ENST00000296280	Transcript	synonymous_variant	847/4015	621/2187	207/728	P	ccC/ccA		1		-1	MASP1	HGNC	HGNC:6901	protein_coding	YES	CCDS33908.1	ENSP00000296280	P48740		UPI000007256E	NM_139125.3			5/11		Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS01180,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,SMART_domains:SM00042,Superfamily_domains:SSF49854																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	77	187256787	187256787	G	T	1	0	0	0	0	0	0	0	1	9248	1335	47	2		2	MASP1	3	187256787	Silent	SNP	G	C3N-01414_TP	56799	187256787	11038772	122	24828											
TCTEX1D2	0	.	GRCh38	chr3	196296020	196296020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacattcatgaaaacatCatgagtatagttgtcagtgt	14	14	7	6	0	3	2	3	2	0	0	3	2	3	2	0	0	2	2	0	0	5	5	rs748477420		C3N-01414_TP	C3N-01414_NB	C	C																c.367G>T	p.Asp123Tyr	p.D123Y	ENST00000325318	4/5	149	127	22	239	239	0	strelka-varscan-mutect	TCTEX1D2,missense_variant,p.Asp123Tyr,ENST00000325318,NM_152773.4;TCTEX1D2,upstream_gene_variant,,ENST00000491186,;TCTEX1D2,3_prime_UTR_variant,,ENST00000446494,;TCTEX1D2,3_prime_UTR_variant,,ENST00000426563,;TCTEX1D2,non_coding_transcript_exon_variant,,ENST00000465757,;RP11-447L10.1,intron_variant,,ENST00000431391,;AC069257.6,downstream_gene_variant,,ENST00000441819,;	A	ENST00000325318	Transcript	missense_variant	503/673	367/429	123/142	D/Y	Gat/Tat	rs748477420,COSM1043019,COSM479946	1		-1	TCTEX1D2	HGNC	HGNC:28482	protein_coding	YES	CCDS33929.1	ENSP00000324323	Q8WW35		UPI000020AF09	NM_152773.4	deleterious(0)		4/5		Pfam_domain:PF03645,hmmpanther:PTHR21255,hmmpanther:PTHR21255:SF7											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs748477420	.												A	3	1	77	196296020	196296020	C	A	1	0	0	0	0	1	0	0	0	16128	826	29	2		2	TCTEX1D2	3	196296020	Missense_Mutation	SNP	C	C3N-01414_TP	9039233	196296020	1999539	123	24829											
PPARGC1A	0	.	GRCh38	chr4	23802232	23802232	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagattctcacccatcatcCcgcagatttactgtgcactc	10	11	6	14	1	2	2	2	0	1	2	5	3	3	2	2	0	2	2	2	0	2	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.2133G>C	p.=	p.R711R	ENST00000264867	11/13	174	140	34	267	267	0	strelka-varscan-mutect	PPARGC1A,synonymous_variant,p.=,ENST00000264867,NM_013261.3;PPARGC1A,synonymous_variant,p.=,ENST00000613098,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000509702,;PPARGC1A,3_prime_UTR_variant,,ENST00000506055,;	G	ENST00000264867	Transcript	synonymous_variant	2253/6318	2133/2397	711/798	R	cgG/cgC		1		-1	PPARGC1A	HGNC	HGNC:9237	protein_coding	YES	CCDS3429.1	ENSP00000264867	Q9UBK2	A0A024R9Q9	UPI000004D072	NM_013261.3			11/13		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR15528,hmmpanther:PTHR15528:SF10,SMART_domains:SM00360,Superfamily_domains:SSF54928																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	77	23802232	23802232	C	G	1	0	0	0	0	0	0	0	1	12409	610	22	4		4	PPARGC1A	4	23802232	Silent	SNP	C	C3N-01414_TP		23802232	166412323	124	24830											
SLC34A2	0	.	GRCh38	chr4	25676282	25676282	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtcttctacctgatcatcTtcttcttcctgatcccgctg	4	16	5	16	2	6	2	1	2	5	0	8	2	8	2	4	0	1	1	4	0	1	5			C3N-01414_TP	C3N-01414_NB	T	T																c.1606T>A	p.Phe536Ile	p.F536I	ENST00000382051	13/13	453	383	70	671	670	1	strelka-varscan-mutect	SLC34A2,missense_variant,p.Phe536Ile,ENST00000382051,NM_006424.2;SLC34A2,missense_variant,p.Phe535Ile,ENST00000503434,NM_001177999.1;SLC34A2,missense_variant,p.Phe535Ile,ENST00000504570,NM_001177998.1;RP11-302F12.1,upstream_gene_variant,,ENST00000496507,;	A	ENST00000382051	Transcript	missense_variant	1656/4122	1606/2073	536/690	F/I	Ttc/Atc	COSM733650	1		1	SLC34A2	HGNC	HGNC:11020	protein_coding	YES	CCDS3435.1	ENSP00000371483	O95436		UPI000013DF24	NM_006424.2	tolerated(0.06)		13/13		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF23,TIGRFAM_domain:TIGR01013											1						MODERATE	1	SNV	1		1	1										PASS		rs1227346120	.												A	3	1	77	25676282	25676282	T	A	1	0	0	0	0	1	0	0	0	14838	1609	56	4		4	SLC34A2	4	25676282	Missense_Mutation	SNP	T	C3N-01414_TP	1874050	25676282	164538273	125	24831											
GABRB1	0	.	GRCh38	chr4	47425922	47425922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcaagatccccgacttGactgatgtgaattccataga	14	10	8	9	1	1	5	1	3	0	2	3	6	3	5	3	0	0	0	3	0	4	3	rs6288		C3N-01414_TP	C3N-01414_NB	G	G																c.1329G>T	p.Leu443Phe	p.L443F	ENST00000295454	9/9	154	117	37	204	203	1	strelka-varscan-mutect	GABRB1,missense_variant,p.Leu443Phe,ENST00000295454,NM_000812.3;	T	ENST00000295454	Transcript	missense_variant	1621/2143	1329/1425	443/474	L/F	ttG/ttT	rs6288	1		1	GABRB1	HGNC	HGNC:4081	protein_coding	YES	CCDS3474.1	ENSP00000295454	P18505	X5DNL6	UPI000012AFAC	NM_000812.3	deleterious(0)		9/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF429,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR01160																	MODERATE	1	SNV	1			1										PASS		rs6288	.												T	3	4	77	47425922	47425922	G	T	1	0	0	0	0	1	0	0	0	6037	1281	45	2		2	GABRB1	4	47425922	Missense_Mutation	SNP	G	C3N-01414_TP	21749640	47425922	142788633	126	24832											
PDGFRA	0	.	GRCh38	chr4	54290444	54290444	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaagctgaaggactgggaGggtggtctggatgagcagag	11	6	19	5	0	1	3	0	2	1	1	1	7	1	6	0	5	2	2	0	5	2	0			C3N-01414_TP	C3N-01414_NB	G	G																c.3012G>C	p.Glu1004Asp	p.E1004D	ENST00000257290	22/23	326	256	70	497	497	0	strelka-varscan-mutect	PDGFRA,missense_variant,p.Glu1004Asp,ENST00000257290,NM_006206.4;RP11-231C18.3,missense_variant,p.Glu764Asp,ENST00000507166,;	C	ENST00000257290	Transcript	missense_variant	3343/6576	3012/3270	1004/1089	E/D	gaG/gaC	COSM5004118	1		1	PDGFRA	HGNC	HGNC:8803	protein_coding	YES	CCDS3495.1	ENSP00000257290	P16234		UPI0000131793	NM_006206.4	tolerated(0.06)		22/23		hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615											1						MODERATE	1	SNV	1		1	1										PASS		rs1224923673	.												C	3	2	77	54290444	54290444	G	C	1	0	0	0	0	1	0	0	0	11749	991	35	4		4	PDGFRA	4	54290444	Missense_Mutation	SNP	G	C3N-01414_TP	6864522	54290444	135924111	127	24833											
AASDH	0	.	GRCh38	chr4	56378351	56378351	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatttctcttttccatcattTagcatcaagttcacctcagt	9	18	3	11	0	5	0	4	0	1	0	7	0	6	0	2	0	1	2	2	0	3	7	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.465A>T	p.=	p.L155L	ENST00000205214	4/15	287	255	32	452	452	0	strelka-varscan-mutect	AASDH,synonymous_variant,p.=,ENST00000205214,NM_181806.3;AASDH,synonymous_variant,p.=,ENST00000602986,NM_001286669.1;AASDH,synonymous_variant,p.=,ENST00000513376,NM_001286668.1;AASDH,synonymous_variant,p.=,ENST00000451613,NM_001286671.1;AASDH,synonymous_variant,p.=,ENST00000502617,NM_001286672.1;AASDH,non_coding_transcript_exon_variant,,ENST00000510762,;AASDH,3_prime_UTR_variant,,ENST00000503808,;AASDH,intron_variant,,ENST00000514745,NM_001286670.1;AASDH,downstream_gene_variant,,ENST00000510012,;AASDH,downstream_gene_variant,,ENST00000514796,;	A	ENST00000205214	Transcript	synonymous_variant	646/3590	465/3297	155/1098	L	ctA/ctT		1		-1	AASDH	HGNC	HGNC:23993	protein_coding	YES	CCDS3504.1	ENSP00000205214	Q4L235		UPI000020B8EF	NM_181806.3			4/15		Pfam_domain:PF00501,Superfamily_domains:SSF56801																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	56378351	56378351	T	A	1	0	0	0	0	0	0	0	1	26	1741	61	4		4	AASDH	4	56378351	Silent	SNP	T	C3N-01414_TP	2087907	56378351	133836204	128	24834											
CSN2	0	.	GRCh38	chr4	69956350	69956350	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattaactttgaaatcttcTtagaccttaaaaataaacag	19	13	3	6	0	2	2	0	1	2	1	2	2	2	2	1	0	2	0	1	0	9	6	rs762728005		C3N-01414_TP	C3N-01414_NB	T	T																c.681A>T	p.Ter227TyrextTer14	p.*227Yext*14	ENST00000353151	6/7	52	47	5	108	108	0	strelka-varscan-mutect	CSN2,stop_lost,p.Ter227TyrextTer14,ENST00000353151,NM_001302770.1,NM_001891.3;	A	ENST00000353151	Transcript	stop_lost	693/1066	681/681	227/226	*/Y	taA/taT	rs762728005	1		-1	CSN2	HGNC	HGNC:2447	protein_coding	YES	CCDS3532.1	ENSP00000341030	P05814	W5RWE1	UPI0000126FDB	NM_001302770.1,NM_001891.3			6/7																			HIGH	1	SNV	1			1										PASS		rs762728005	.												A	4	1	77	69956350	69956350	T	A	1	0	0	0	0	0	0	0	0	3748	1623	56	4		4	CSN2	4	69956350	Nonstop_Mutation	SNP	T	C3N-01414_TP	13577999	69956350	120258205	129	24835											
MUC7	0	.	GRCh38	chr4	70480913	70480913	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactgctagctcaccagaagCcgttcattagaaagtcctat	12	10	8	11	1	2	2	2	0	0	2	3	3	3	2	3	0	3	3	3	0	5	4	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.169C>A	p.Pro57Thr	p.P57T	ENST00000413702	4/4	227	169	58	458	458	0	strelka-varscan-mutect	MUC7,missense_variant,p.Pro57Thr,ENST00000413702,NM_001145006.1;MUC7,missense_variant,p.Pro57Thr,ENST00000456088,NM_001145007.1;MUC7,missense_variant,p.Pro57Thr,ENST00000304887,NM_152291.2;MUC7,missense_variant,p.Pro57Thr,ENST00000505411,;MUC7,non_coding_transcript_exon_variant,,ENST00000514512,;MUC7,non_coding_transcript_exon_variant,,ENST00000504482,;	A	ENST00000413702	Transcript	missense_variant	457/2540	169/1134	57/377	P/T	Ccg/Acg		1		1	MUC7	HGNC	HGNC:7518	protein_coding	YES	CCDS3541.1	ENSP00000407422	Q8TAX7		UPI000013E9DD	NM_001145006.1	tolerated(0.57)		4/4		hmmpanther:PTHR41683:SF1,hmmpanther:PTHR41683																	MODERATE	1	SNV	4			1										PASS		.	.												A	3	1	77	70480913	70480913	C	A	1	0	0	0	0	1	0	0	0	9981	739	26	2		2	MUC7	4	70480913	Missense_Mutation	SNP	C	C3N-01414_TP	524563	70480913	119733642	130	24836											
FRAS1	0	.	GRCh38	chr4	78479598	78479598	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttgagattgccttggcaGatgcctctgacaatgcccgc	8	11	11	11	1	1	3	0	2	1	2	1	4	1	3	3	1	3	2	3	1	1	3			C3N-01414_TP	C3N-01414_NB	G	G																c.8323G>C	p.Asp2775His	p.D2775H	ENST00000512123	56/74	144	110	34	235	235	0	strelka-varscan-mutect	FRAS1,missense_variant,p.Asp2775His,ENST00000512123,NM_025074.6;	C	ENST00000512123	Transcript	missense_variant	8763/15624	8323/12039	2775/4012	D/H	Gat/Cat	COSM1310282,COSM1310283	1		1	FRAS1	HGNC	HGNC:19185	protein_coding	YES	CCDS54771.1	ENSP00000422834	Q86XX4		UPI000021D4C2	NM_025074.6	deleterious(0.02)		56/74		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF29,Superfamily_domains:SSF141072											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												C	3	2	77	78479598	78479598	G	C	1	0	0	0	0	1	0	0	0	5908	942	33	4		4	FRAS1	4	78479598	Missense_Mutation	SNP	G	C3N-01414_TP	7998685	78479598	111734957	131	24837											
PTPN13	0	.	GRCh38	chr4	86771513	86771513	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatcctcagaaaattcccAataaaccagagtttgaggac	16	9	6	10	0	1	3	1	1	0	2	3	4	3	4	3	1	1	1	3	1	6	4	rs748061205		C3N-01414_TP	C3N-01414_NB	A	A																c.5161A>T	p.Asn1721Tyr	p.N1721Y	ENST00000436978	31/48	71	47	24	105	105	0	strelka-varscan-mutect	PTPN13,missense_variant,p.Asn1721Tyr,ENST00000436978,NM_080685.2;PTPN13,missense_variant,p.Asn1697Tyr,ENST00000427191,NM_006264.2;PTPN13,missense_variant,p.Asn1716Tyr,ENST00000411767,NM_080683.2;PTPN13,missense_variant,p.Asn1721Tyr,ENST00000511467,;PTPN13,missense_variant,p.Asn1525Tyr,ENST00000316707,NM_080684.2;PTPN13,downstream_gene_variant,,ENST00000511105,;	T	ENST00000436978	Transcript	missense_variant	5641/8573	5161/7473	1721/2490	N/Y	Aat/Tat	rs748061205	1		1	PTPN13	HGNC	HGNC:9646	protein_coding	YES	CCDS47093.1	ENSP00000394794	Q12923		UPI000016075D	NM_080685.2	deleterious(0)		31/48		PIRSF_domain:PIRSF000933																	MODERATE	1	SNV	5			1										PASS		rs748061205	.												T	3	4	77	86771513	86771513	A	T	1	0	0	0	0	1	0	0	0	12935	130	5	4		4	PTPN13	4	86771513	Missense_Mutation	SNP	A	C3N-01414_TP	8291915	86771513	103443042	132	24838											
SPP1	0	.	GRCh38	chr4	87981767	87981767	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtttatggactgaggtcaaAatctaagaagtttcgcagac	13	11	11	6	1	2	3	1	1	1	2	3	4	2	4	0	3	0	3	0	3	5	4	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.509A>T	p.Lys170Ile	p.K170I	ENST00000395080	6/7	157	114	43	205	205	0	strelka-varscan-mutect	SPP1,missense_variant,p.Lys156Ile,ENST00000237623,NM_000582.2;SPP1,missense_variant,p.Lys148Ile,ENST00000614857,NM_001251830.1;SPP1,missense_variant,p.Lys170Ile,ENST00000395080,NM_001040058.1;SPP1,missense_variant,p.Lys143Ile,ENST00000360804,NM_001040060.1;SPP1,missense_variant,p.Lys129Ile,ENST00000508233,NM_001251829.1;SPP1,non_coding_transcript_exon_variant,,ENST00000509659,;SPP1,downstream_gene_variant,,ENST00000509334,;SPP1,downstream_gene_variant,,ENST00000513981,;SPP1,downstream_gene_variant,,ENST00000508002,;SPP1,downstream_gene_variant,,ENST00000504310,;SPP1,downstream_gene_variant,,ENST00000505146,;	T	ENST00000395080	Transcript	missense_variant	636/1473	509/945	170/314	K/I	aAa/aTa		1		1	SPP1	HGNC	HGNC:11255	protein_coding	YES	CCDS43250.1	ENSP00000378517	P10451	A0A024RDE2	UPI0000000E0B	NM_001040058.1	deleterious(0)		6/7		hmmpanther:PTHR10607:SF1,hmmpanther:PTHR10607,Pfam_domain:PF00865,SMART_domains:SM00017																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	87981767	87981767	A	T	1	0	0	0	0	1	0	0	0	15439	14	1	4		4	SPP1	4	87981767	Missense_Mutation	SNP	A	C3N-01414_TP	1210254	87981767	102232788	133	24839											
PPM1K	0	.	GRCh38	chr4	88262667	88262667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagagttcttatattttccCcaggcaccaaaaggcactac	12	11	6	12	0	2	1	1	0	1	1	3	1	3	1	3	2	1	3	3	2	5	6			C3N-01414_TP	C3N-01414_NB	C	C																c.1047G>T	p.Trp349Cys	p.W349C	ENST00000608933	7/7	222	187	35	329	329	0	strelka-varscan-mutect	PPM1K,missense_variant,p.Trp349Cys,ENST00000608933,NM_152542.4;PPM1K,missense_variant,p.Trp304Cys,ENST00000295908,;PPM1K,missense_variant,p.Trp130Cys,ENST00000508256,;	A	ENST00000608933	Transcript	missense_variant	1437/6484	1047/1119	349/372	W/C	tgG/tgT	COSM1541115	1		-1	PPM1K	HGNC	HGNC:25415	protein_coding	YES	CCDS3629.1	ENSP00000477341	Q8N3J5		UPI00000473F1	NM_152542.4	deleterious(0)		7/7		hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF267,Gene3D:3.60.40.10,Superfamily_domains:SSF81606											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	77	88262667	88262667	C	A	1	0	0	0	0	1	0	0	0	12453	624	22	2		2	PPM1K	4	88262667	Missense_Mutation	SNP	C	C3N-01414_TP	280900	88262667	101951888	134	24840											
HERC5	0	.	GRCh38	chr4	88493120	88493120	+	Missense_Mutation	SNP	C	C	A																															aatatgggatgttcatgtatCctgaaggggcttcctgcatg																								novel		C3N-01414_TP	C3N-01414_NB	C	C																c.2242C>A	p.Pro748Thr	p.P748T	ENST00000264350	17/23	151	116	35	267	267	0	strelka-varscan-mutect	HERC5,missense_variant,p.Pro748Thr,ENST00000264350,NM_016323.3;HERC5,missense_variant,p.Pro386Thr,ENST00000508159,;HERC5,non_coding_transcript_exon_variant,,ENST00000510223,;HERC5,non_coding_transcript_exon_variant,,ENST00000502913,;	A	ENST00000264350	Transcript	missense_variant	2395/3513	2242/3075	748/1024	P/T	Cct/Act		1		1	HERC5	HGNC	HGNC:24368	protein_coding	YES	CCDS3630.1	ENSP00000264350	Q9UII4		UPI000013D500	NM_016323.3	deleterious(0.03)		17/23		Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF344,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	88493120	88493120	C	A	1	0	0	0	0	1	0	0	0	6945	855	30	2		2	HERC5	4	88493120	Missense_Mutation	SNP	C	C3N-01414_TP	230453	88493120	101721435	135	24841	516	2									
HERC5	0	.	GRCh38	chr4	88493121	88493121	+	Missense_Mutation	SNP	C	C	A																															atatgggatgttcatgtatcCtgaaggggcttcctgcatgt																								novel		C3N-01414_TP	C3N-01414_NB	C	C																c.2243C>A	p.Pro748His	p.P748H	ENST00000264350	17/23	146	113	33	253	252	1	strelka-varscan-mutect	HERC5,missense_variant,p.Pro748His,ENST00000264350,NM_016323.3;HERC5,missense_variant,p.Pro386His,ENST00000508159,;HERC5,non_coding_transcript_exon_variant,,ENST00000510223,;HERC5,non_coding_transcript_exon_variant,,ENST00000502913,;	A	ENST00000264350	Transcript	missense_variant	2396/3513	2243/3075	748/1024	P/H	cCt/cAt		1		1	HERC5	HGNC	HGNC:24368	protein_coding	YES	CCDS3630.1	ENSP00000264350	Q9UII4		UPI000013D500	NM_016323.3	deleterious(0)		17/23		Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF344,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	88493121	88493121	C	A	1	0	0	0	0	1	0	0	0	6945	681	24	2		2	HERC5	4	88493121	Missense_Mutation	SNP	C	C3N-01414_TP	1	88493121	101721434	136	24842	516	2									
GRID2	0	.	GRCh38	chr4	93455700	93455700	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctttaaccatcactccAgatcgtgaaaatgtggtgga	11	12	9	9	1	2	2	1	1	1	1	4	3	3	3	2	2	2	1	2	2	3	2	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1584A>T	p.=	p.P528P	ENST00000282020	11/16	142	107	35	255	255	0	strelka-varscan-mutect	GRID2,synonymous_variant,p.=,ENST00000282020,NM_001510.3;GRID2,synonymous_variant,p.=,ENST00000611049,;GRID2,synonymous_variant,p.=,ENST00000510992,NM_001286838.1;	T	ENST00000282020	Transcript	synonymous_variant	2619/6117	1584/3024	528/1007	P	ccA/ccT		1		1	GRID2	HGNC	HGNC:4576	protein_coding	YES	CCDS3637.1	ENSP00000282020	O43424		UPI00001AEA78	NM_001510.3			11/16		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF109,Pfam_domain:PF10613,Gene3D:3.40.190.10,SMART_domains:SM00079,Superfamily_domains:SSF53850																	LOW	1	SNV	1			1										PASS		rs1161815489	.												T	2	4	77	93455700	93455700	A	T	1	0	0	0	0	0	0	0	1	6652	175	7	4		4	GRID2	4	93455700	Silent	SNP	A	C3N-01414_TP	4962579	93455700	96758855	137	24843											
CENPE	0	.	GRCh38	chr4	103141053	103141053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttctgtgtctcattgaCatctttttttaacgtaataa	9	22	4	6	1	3	1	1	1	3	0	4	1	3	1	0	0	1	1	0	0	3	10	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.5515G>A	p.Val1839Ile	p.V1839I	ENST00000265148	36/49	97	88	9	159	158	1	strelka-varscan-mutect	CENPE,missense_variant,p.Val1839Ile,ENST00000265148,NM_001813.2;CENPE,missense_variant,p.Val1839Ile,ENST00000611174,;CENPE,missense_variant,p.Val1814Ile,ENST00000380026,NM_001286734.1;CENPE,downstream_gene_variant,,ENST00000515478,;	T	ENST00000265148	Transcript	missense_variant	5605/8612	5515/8106	1839/2701	V/I	Gtc/Atc		1		-1	CENPE	HGNC	HGNC:1856	protein_coding	YES	CCDS34042.1	ENSP00000265148	Q02224		UPI000020B28A	NM_001813.2	tolerated(0.21)		36/49		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	77	103141053	103141053	C	T	1	0	0	0	0	1	0	0	0	2938	478	17	3		3	CENPE	4	103141053	Missense_Mutation	SNP	C	C3N-01414_TP	9685353	103141053	87073502	138	24844											
GIMD1	0	.	GRCh38	chr4	106367275	106367275	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcatgaagctgtggaggTgacaactgcggcccaggcta	10	6	15	10	2	0	2	0	2	0	0	0	4	0	3	1	4	3	3	1	4	3	1	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.161A>T	p.His54Leu	p.H54L	ENST00000507153	1/2	241	183	58	295	294	1	strelka-varscan-mutect	GIMD1,missense_variant,p.His54Leu,ENST00000507153,NM_001195138.1;	A	ENST00000507153	Transcript	missense_variant	161/654	161/654	54/217	H/L	cAc/cTc		1		-1	GIMD1	HGNC	HGNC:44141	protein_coding	YES		ENSP00000489975	P0DJR0		UPI0001E112A1	NM_001195138.1	tolerated(0.66)		1/2		PROSITE_profiles:PS51720,hmmpanther:PTHR10903:SF40,hmmpanther:PTHR10903,Gene3D:3.40.50.300,Pfam_domain:PF04548,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	77	106367275	106367275	T	A	1	0	0	0	0	1	0	0	0	6266	1696	59	4		4	GIMD1	4	106367275	Missense_Mutation	SNP	T	C3N-01414_TP	3226222	106367275	83847280	139	24845											
ANK2	0	.	GRCh38	chr4	113358634	113358634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagatgaggaaaataaggCggatgaagcaaaaccaaagt	19	6	12	4	1	0	3	0	2	0	1	0	5	0	5	1	3	2	2	1	3	8	2	rs150437645		C3N-01414_TP	C3N-01414_NB	C	C																c.10016C>A	p.Ala3339Glu	p.A3339E	ENST00000357077	38/46	262	215	47	442	442	0	strelka-varscan-mutect	ANK2,missense_variant,p.Ala3339Glu,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Ala3306Glu,ENST00000264366,;ANK2,missense_variant,p.Ala349Glu,ENST00000505342,;ANK2,3_prime_UTR_variant,,ENST00000612754,;ANK2,intron_variant,,ENST00000506722,NM_001127493.1;ANK2,intron_variant,,ENST00000394537,NM_020977.3;ANK2,intron_variant,,ENST00000514960,;ANK2,intron_variant,,ENST00000509550,;ANK2,intron_variant,,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,downstream_gene_variant,,ENST00000504454,;ANK2,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;	A	ENST00000357077	Transcript	missense_variant	10069/14196	10016/11874	3339/3957	A/E	gCg/gAg	rs150437645	1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	tolerated_low_confidence(1)		38/46		hmmpanther:PTHR24123:SF17,hmmpanther:PTHR24123																	MODERATE	1	SNV	1			1										PASS		rs150437645	.												A	3	1	77	113358634	113358634	C	A	1	0	0	0	0	1	0	0	0	721	768	27	1		1	ANK2	4	113358634	Missense_Mutation	SNP	C	C3N-01414_TP	6991359	113358634	76855921	140	24846											
FAT4	0	.	GRCh38	chr4	125490277	125490277	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagctggaagtcctgcGgggcatgtctgtgttctgag	7	11	15	8	1	2	1	0	1	2	0	3	2	3	2	1	3	3	4	1	3	2	1	rs776669972		C3N-01414_TP	C3N-01414_NB	G	G																c.13455G>T	p.=	p.A4485A	ENST00000394329	17/17	218	172	46	298	297	1	strelka-varscan-mutect	FAT4,synonymous_variant,p.=,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,synonymous_variant,p.=,ENST00000335110,;	T	ENST00000394329	Transcript	synonymous_variant	13468/16123	13455/14946	4485/4981	A	gcG/gcT	rs776669972,COSM1567023,COSM1567024	1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4			17/17													0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs776669972	.												T	2	4	77	125490277	125490277	G	T	1	0	0	0	0	0	0	0	1	5552	1103	39	1		1	FAT4	4	125490277	Silent	SNP	G	C3N-01414_TP	12131643	125490277	64724278	141	24847											
PRMT9	0	.	GRCh38	chr4	147673000	147673000	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctatgtcaagtgacttCgtatgtaagagtttgatccc	10	15	8	8	1	2	3	1	2	1	1	5	3	3	3	1	0	0	3	1	0	4	5	rs145578256		C3N-01414_TP	C3N-01414_NB	C	C																c.702G>T	p.=	p.T234T	ENST00000322396	4/12	228	183	45	379	378	1	strelka-varscan-mutect	PRMT9,synonymous_variant,p.=,ENST00000322396,NM_001304458.1,NM_138364.3;TMEM184C,downstream_gene_variant,,ENST00000508208,;PRMT9,3_prime_UTR_variant,,ENST00000514886,;	A	ENST00000322396	Transcript	synonymous_variant	945/3528	702/2538	234/845	T	acG/acT	rs145578256,COSM1051860	1		-1	PRMT9	HGNC	HGNC:25099	protein_coding	YES	CCDS3771.1	ENSP00000314396	Q6P2P2		UPI000004971D	NM_001304458.1,NM_138364.3			4/12		PROSITE_profiles:PS51678,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF60,Gene3D:3.40.50.150,Superfamily_domains:SSF53335											0,1						LOW	1	SNV	1		0,1	1										PASS		rs145578256	.												A	2	1	77	147673000	147673000	C	A	1	0	0	0	0	0	0	0	1	12674	871	31	1		1	PRMT9	4	147673000	Silent	SNP	C	C3N-01414_TP	22182723	147673000	42541555	142	24848											
DCHS2	0	.	GRCh38	chr4	154304714	154304714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttattgccagcatccatatCagaggctaaaaccgtataga	14	10	8	9	1	1	2	1	0	0	2	2	2	2	2	3	1	3	4	3	1	6	6	rs761229608		C3N-01414_TP	C3N-01414_NB	C	C																c.4195G>T	p.Asp1399Tyr	p.D1399Y	ENST00000623607	17/25	93	84	9	135	135	0	strelka-varscan-mutect	DCHS2,missense_variant,p.Asp1399Tyr,ENST00000357232,;DCHS2,missense_variant,p.Asp1399Tyr,ENST00000623607,NM_017639.3;	A	ENST00000623607	Transcript	missense_variant	4195/8912	4195/8751	1399/2916	D/Y	Gat/Tat	rs761229608	1		-1	DCHS2	HGNC	HGNC:23111	protein_coding	YES	CCDS3785.1	ENSP00000485514	Q6V1P9		UPI000035B018	NM_017639.3	deleterious(0)		17/25		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF305,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs761229608	.												A	3	1	77	154304714	154304714	C	A	1	0	0	0	0	1	0	0	0	4091	826	29	2		2	DCHS2	4	154304714	Missense_Mutation	SNP	C	C3N-01414_TP	6631714	154304714	35909841	143	24849											
CENPU	0	.	GRCh38	chr4	184734037	184734037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcagacctgtgaggccgcGgccgccgccgcccccgcggg	3	3	15	20	7	1	2	1	1	0	1	1	2	1	2	8	3	0	0	8	3	0	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.26C>A	p.Pro9Gln	p.P9Q	ENST00000281453	1/13	179	162	17	304	304	0	strelka-varscan-mutect	CENPU,missense_variant,p.Pro9Gln,ENST00000281453,NM_024629.3;CENPU,upstream_gene_variant,,ENST00000514781,;CENPU,missense_variant,p.Pro9Gln,ENST00000510146,;	T	ENST00000281453	Transcript	missense_variant	97/1998	26/1257	9/418	P/Q	cCg/cAg		1		-1	CENPU	HGNC	HGNC:21348	protein_coding	YES	CCDS3838.1	ENSP00000281453	Q71F23		UPI00001BFAF6	NM_024629.3	tolerated_low_confidence(0.21)		1/13		Low_complexity_(Seg):seg,hmmpanther:PTHR32222:SF1,hmmpanther:PTHR32222																	MODERATE	1	SNV	1			1										PASS		rs899831790	.												T	3	4	77	184734037	184734037	G	T	1	0	0	0	0	1	0	0	0	2951	1116	39	1		1	CENPU	4	184734037	Missense_Mutation	SNP	G	C3N-01414_TP	30429323	184734037	5480518	144	24850											
FAT1	0	.	GRCh38	chr4	186708182	186708182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaaggacttcgacttccCggcggtacggcaagccccag	9	6	12	14	4	0	0	0	0	0	0	2	2	1	1	3	4	3	3	3	4	4	4	rs758383716		C3N-01414_TP	C3N-01414_NB	C	C																c.1646G>T	p.Arg549Leu	p.R549L	ENST00000441802	2/27	170	131	39	297	297	0	strelka-varscan-mutect	FAT1,missense_variant,p.Arg549Leu,ENST00000441802,NM_005245.3;FAT1,missense_variant,p.Arg549Leu,ENST00000614102,;FAT1,downstream_gene_variant,,ENST00000509647,;	A	ENST00000441802	Transcript	missense_variant	1856/14786	1646/13767	549/4588	R/L	cGg/cTg	rs758383716	1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3	deleterious(0.04)		2/27		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		rs758383716	.												A	3	1	77	186708182	186708182	C	A	1	0	0	0	0	1	0	0	0	5549	652	23	1		1	FAT1	4	186708182	Missense_Mutation	SNP	C	C3N-01414_TP	1974145	186708182	3506373	145	24851											
ICE1	0	.	GRCh38	chr5	5463093	5463093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacaagtcagctcactcaGtgttctttggaaactctgtc	11	13	7	10	0	5	0	3	0	2	0	6	1	5	1	0	1	3	2	0	1	4	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.3759G>T	p.Gln1253His	p.Q1253H	ENST00000296564	13/19	161	129	32	321	321	0	strelka-varscan-mutect	ICE1,missense_variant,p.Gln1253His,ENST00000296564,NM_015325.2;	T	ENST00000296564	Transcript	missense_variant	3981/7927	3759/6801	1253/2266	Q/H	caG/caT		1		1	ICE1	HGNC	HGNC:29154	protein_coding	YES	CCDS47187.1	ENSP00000296564	Q9Y2F5		UPI00015542F9	NM_015325.2	tolerated(0.08)		13/19		hmmpanther:PTHR11852:SF4,hmmpanther:PTHR11852																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	5463093	5463093	G	T	1	0	0	0	0	1	0	0	0	7384	1020	36	2		2	ICE1	5	5463093	Missense_Mutation	SNP	G	C3N-01414_TP		5463093	176075166	146	24852											
PAPD7	0	.	GRCh38	chr5	6742568	6742568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatggagacgggcgtccggGcagcggagttcatcaagaat	11	6	15	9	4	2	2	2	0	0	2	3	4	3	3	1	4	1	2	1	4	2	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.337G>T	p.Ala113Ser	p.A113S	ENST00000631941	5/13	251	208	43	357	356	1	strelka-varscan-mutect	PAPD7,missense_variant,p.Ala363Ser,ENST00000230859,;PAPD7,missense_variant,p.Ala113Ser,ENST00000631941,NM_006999.4,NM_001171805.1;PAPD7,downstream_gene_variant,,ENST00000515721,;PAPD7,upstream_gene_variant,,ENST00000514697,;PAPD7,upstream_gene_variant,,ENST00000511764,;	T	ENST00000631941	Transcript	missense_variant	525/1902	337/1629	113/542	A/S	Gca/Tca		1		1	PAPD7	HGNC	HGNC:16705	protein_coding	YES	CCDS3871.1	ENSP00000488642	Q5XG87		UPI0000071E30	NM_006999.4,NM_001171805.1	tolerated(0.44)		5/13		Gene3D:3.30.460.10,Pfam_domain:PF01909,hmmpanther:PTHR23092,hmmpanther:PTHR23092:SF24,Superfamily_domains:SSF81301																	MODERATE	1	SNV	5			1										PASS		rs952798730	.												T	3	4	77	6742568	6742568	G	T	1	0	0	0	0	1	0	0	0	11507	1203	42	2		2	PAPD7	5	6742568	Missense_Mutation	SNP	G	C3N-01414_TP	1279475	6742568	174795691	147	24853											
ADCY2	0	.	GRCh38	chr5	7707731	7707731	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatttcttctgtcaccCtggagcacttgaatggcgct	7	14	8	12	1	4	1	2	1	2	0	4	2	4	2	1	2	1	2	1	2	1	4	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1294C>G	p.Leu432Val	p.L432V	ENST00000338316	9/25	184	161	23	323	323	0	strelka-mutect	ADCY2,missense_variant,p.Leu432Val,ENST00000338316,NM_020546.2;RP11-711G10.1,downstream_gene_variant,,ENST00000514105,;	G	ENST00000338316	Transcript	missense_variant	1383/6575	1294/3276	432/1091	L/V	Ctg/Gtg		1		1	ADCY2	HGNC	HGNC:233	protein_coding	YES	CCDS3872.2	ENSP00000342952	Q08462		UPI000066D9F2	NM_020546.2	deleterious(0)		9/25		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,SMART_domains:SM00044,Superfamily_domains:SSF55073																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	77	7707731	7707731	C	G	1	0	0	0	0	1	0	0	0	338	680	24	4		4	ADCY2	5	7707731	Missense_Mutation	SNP	C	C3N-01414_TP	965163	7707731	173830528	148	24854											
CDH18	0	.	GRCh38	chr5	19503035	19503035	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggatttacaggcaggcgTtcatcaagaaagaagttaaa	15	11	10	5	1	2	2	2	0	0	2	2	3	2	3	0	3	1	3	0	3	6	5	rs17852886		C3N-01414_TP	C3N-01414_NB	T	T																c.1587A>C	p.Glu529Asp	p.E529D	ENST00000507958	13/15	204	193	11	345	345	0	strelka-varscan-mutect	CDH18,missense_variant,p.Glu529Asp,ENST00000507958,NM_001291956.1;CDH18,missense_variant,p.Glu529Asp,ENST00000382275,NM_004934.3;CDH18,missense_variant,p.Glu529Asp,ENST00000274170,;CDH18,missense_variant,p.Glu529Asp,ENST00000506372,NM_001291957.1;CDH18,missense_variant,p.Glu529Asp,ENST00000502796,NM_001167667.1;CDH18,missense_variant,p.Glu529Asp,ENST00000511273,;CDH18,intron_variant,,ENST00000515257,;	G	ENST00000507958	Transcript	missense_variant	2578/3542	1587/2373	529/790	E/D	gaA/gaC	rs17852886	1		-1	CDH18	HGNC	HGNC:1757	protein_coding	YES	CCDS3889.1	ENSP00000425093	Q13634		UPI0000126DBD	NM_001291956.1	deleterious(0.02)		13/15		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	2			1										PASS		rs17852886	.												G	3	3	77	19503035	19503035	T	G	1	0	0	0	0	1	0	0	0	2806	1722	60	5		5	CDH18	5	19503035	Missense_Mutation	SNP	T	C3N-01414_TP	11795304	19503035	162035224	149	24855											
ADAMTS12	0	.	GRCh38	chr5	33649697	33649697	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcatgctggatgccgaaGctggcagggaagaaccaagc	12	5	13	11	1	1	1	1	0	0	1	1	4	1	3	3	3	5	3	3	3	4	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1191C>G	p.Ser397Arg	p.S397R	ENST00000504830	8/24	76	70	6	115	115	0	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Ser397Arg,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Ser397Arg,ENST00000352040,;ADAMTS12,splice_region_variant,,ENST00000504582,;	C	ENST00000504830	Transcript	missense_variant,splice_region_variant	1527/8774	1191/4785	397/1594	S/R	agC/agG		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	deleterious(0.01)		8/24		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	33649697	33649697	G	C	1	0	0	0	0	1	0	0	0	301	985	34	4		4	ADAMTS12	5	33649697	Missense_Mutation	SNP	G	C3N-01414_TP	14146662	33649697	147888562	150	24856											
FYB	0	.	GRCh38	chr5	39202703	39202703	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaatctttggcctgctccAgtgggctttagaaacggggg	7	10	14	10	2	1	1	0	0	1	1	2	2	2	1	3	4	2	2	3	4	3	3	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.288T>A	p.=	p.T96T	ENST00000512982	2/19	406	319	87	645	645	0	strelka-varscan-mutect	FYB,synonymous_variant,p.=,ENST00000351578,NM_199335.3;FYB,synonymous_variant,p.=,ENST00000505428,NM_001465.4;FYB,synonymous_variant,p.=,ENST00000512982,NM_001243093.1;FYB,synonymous_variant,p.=,ENST00000515010,;FYB,synonymous_variant,p.=,ENST00000510188,;FYB,synonymous_variant,p.=,ENST00000512138,;FYB,downstream_gene_variant,,ENST00000506557,;FYB,downstream_gene_variant,,ENST00000504542,;FYB,downstream_gene_variant,,ENST00000509072,;	T	ENST00000512982	Transcript	synonymous_variant	374/2747	288/2520	96/839	T	acT/acA		1		-1	FYB	HGNC	HGNC:4036	protein_coding	YES	CCDS58945.1	ENSP00000425845	O15117		UPI00017A75FB	NM_001243093.1			2/19		hmmpanther:PTHR16830,hmmpanther:PTHR16830:SF13																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	77	39202703	39202703	A	T	1	0	0	0	0	0	0	0	1	5995	175	7	4		4	FYB	5	39202703	Silent	SNP	A	C3N-01414_TP	5553006	39202703	142335556	151	24857											
DIMT1	0	.	GRCh38	chr5	62390964	62390964	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtattttatctgctatgcTgaaatcttctggtattatct	8	20	6	7	0	4	1	0	1	4	0	4	1	4	1	0	1	2	4	0	1	6	7	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.811A>C	p.Ser271Arg	p.S271R	ENST00000199320	11/12	210	188	22	349	349	0	strelka-varscan-mutect	DIMT1,missense_variant,p.Ser271Arg,ENST00000199320,NM_014473.2;KIF2A,downstream_gene_variant,,ENST00000381103,NM_001243952.1;DIMT1,downstream_gene_variant,,ENST00000506390,;KIF2A,intron_variant,,ENST00000509663,;DIMT1,non_coding_transcript_exon_variant,,ENST00000514605,;DIMT1,downstream_gene_variant,,ENST00000514911,;DIMT1,downstream_gene_variant,,ENST00000509182,;	G	ENST00000199320	Transcript	missense_variant	972/2859	811/942	271/313	S/R	Agc/Cgc		1		-1	DIMT1	HGNC	HGNC:30217	protein_coding	YES	CCDS3981.1	ENSP00000199320	Q9UNQ2		UPI00001293E2	NM_014473.2	tolerated(0.2)		11/12		PROSITE_profiles:PS51689,hmmpanther:PTHR11727:SF7,hmmpanther:PTHR11727,TIGRFAM_domain:TIGR00755,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	77	62390964	62390964	T	G	1	0	0	0	0	1	0	0	0	4328	1580	55	5		5	DIMT1	5	62390964	Missense_Mutation	SNP	T	C3N-01414_TP	23188261	62390964	119147295	152	24858											
DIMT1	0	.	GRCh38	chr5	62390980	62390980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctgaaatcttctggtatTatctatcaatataagattca	14	16	5	6	0	5	2	2	1	3	1	5	2	5	2	0	1	1	2	0	1	7	7	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.795A>G	p.Ile265Met	p.I265M	ENST00000199320	11/12	161	145	16	270	270	0	strelka-varscan-mutect	DIMT1,missense_variant,p.Ile265Met,ENST00000199320,NM_014473.2;KIF2A,downstream_gene_variant,,ENST00000381103,NM_001243952.1;DIMT1,downstream_gene_variant,,ENST00000506390,;KIF2A,intron_variant,,ENST00000509663,;DIMT1,non_coding_transcript_exon_variant,,ENST00000514605,;DIMT1,downstream_gene_variant,,ENST00000514911,;DIMT1,downstream_gene_variant,,ENST00000509182,;	C	ENST00000199320	Transcript	missense_variant,splice_region_variant	956/2859	795/942	265/313	I/M	atA/atG		1		-1	DIMT1	HGNC	HGNC:30217	protein_coding	YES	CCDS3981.1	ENSP00000199320	Q9UNQ2		UPI00001293E2	NM_014473.2	tolerated(0.13)		11/12		PROSITE_profiles:PS51689,hmmpanther:PTHR11727:SF7,hmmpanther:PTHR11727,TIGRFAM_domain:TIGR00755,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	62390980	62390980	T	C	1	0	0	0	0	1	0	0	0	4328	1768	61	5		5	DIMT1	5	62390980	Missense_Mutation	SNP	T	C3N-01414_TP	16	62390980	119147279	153	24859											
MAP1B	0	.	GRCh38	chr5	72195957	72195957	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagacgaagagaaactgAaggaaactgagccagtcgaa	18	4	12	7	3	0	4	0	2	0	2	2	9	0	5	1	1	3	0	1	1	6	0	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.2602A>T	p.Lys868Ter	p.K868*	ENST00000296755	5/7	262	183	79	397	397	0	strelka-varscan-mutect	MAP1B,stop_gained,p.Lys868Ter,ENST00000296755,NM_001324255.1,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;	T	ENST00000296755	Transcript	stop_gained	2900/12036	2602/7407	868/2468	K/*	Aag/Tag		1		1	MAP1B	HGNC	HGNC:6836	protein_coding	YES	CCDS4012.1	ENSP00000296755	P46821		UPI000013E382	NM_001324255.1,NM_005909.3			5/7		Low_complexity_(Seg):seg,hmmpanther:PTHR13843:SF5,hmmpanther:PTHR13843																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	77	72195957	72195957	A	T	1	0	0	0	0	0	1	0	0	9151	247	9	4		4	MAP1B	5	72195957	Nonsense_Mutation	SNP	A	C3N-01414_TP	9804977	72195957	109342302	154	24860											
IQGAP2	0	.	GRCh38	chr5	76589656	76589656	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaacttgagaaatatGgaatacagatgccatctttc	17	10	8	6	0	1	3	0	1	1	3	2	6	1	4	1	1	3	0	1	1	7	4	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.568G>C	p.Gly190Arg	p.G190R	ENST00000274364	7/36	108	90	18	172	171	1	strelka-varscan-mutect	IQGAP2,missense_variant,p.Gly190Arg,ENST00000274364,NM_006633.3;IQGAP2,missense_variant,p.Gly140Arg,ENST00000379730,NM_001285460.1;IQGAP2,missense_variant,p.Gly140Arg,ENST00000505766,;IQGAP2,missense_variant,p.Gly163Arg,ENST00000514350,;	C	ENST00000274364	Transcript	missense_variant	865/5844	568/4728	190/1575	G/R	Gga/Cga		1		1	IQGAP2	HGNC	HGNC:6111	protein_coding	YES	CCDS34188.1	ENSP00000274364	Q13576		UPI000020CB2C	NM_006633.3	deleterious(0)		7/36		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14149:SF12,hmmpanther:PTHR14149,Gene3D:1.10.418.10,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		rs1369697897	.												C	3	2	77	76589656	76589656	G	C	1	0	0	0	0	1	0	0	0	7721	1349	47	4		4	IQGAP2	5	76589656	Missense_Mutation	SNP	G	C3N-01414_TP	4393699	76589656	104948603	155	24861											
IQGAP2	0	.	GRCh38	chr5	76693383	76693383	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgataattgatgtgatcCggaaccagccagggaacaca	14	7	11	9	1	0	3	0	3	0	0	1	5	1	5	3	2	4	1	3	2	3	2	rs373730789		C3N-01414_TP	C3N-01414_NB	C	C																c.3934C>A	p.=	p.R1312R	ENST00000274364	31/36	202	165	37	315	315	0	strelka-varscan-mutect	IQGAP2,synonymous_variant,p.=,ENST00000274364,NM_006633.3;IQGAP2,synonymous_variant,p.=,ENST00000379730,NM_001285460.1;IQGAP2,synonymous_variant,p.=,ENST00000505766,;IQGAP2,synonymous_variant,p.=,ENST00000502745,NM_001285462.1;IQGAP2,synonymous_variant,p.=,ENST00000396234,NM_001285461.1;CTD-2384B11.2,intron_variant,,ENST00000507514,;IQGAP2,3_prime_UTR_variant,,ENST00000504477,;IQGAP2,non_coding_transcript_exon_variant,,ENST00000512256,;	A	ENST00000274364	Transcript	synonymous_variant	4231/5844	3934/4728	1312/1575	R	Cgg/Agg	rs373730789	1		1	IQGAP2	HGNC	HGNC:6111	protein_coding	YES	CCDS34188.1	ENSP00000274364	Q13576		UPI000020CB2C	NM_006633.3			31/36		hmmpanther:PTHR14149:SF12,hmmpanther:PTHR14149																	LOW	1	SNV	1			1										PASS		rs373730789	.												A	2	1	77	76693383	76693383	C	A	1	0	0	0	0	0	0	0	1	7721	643	23	1		1	IQGAP2	5	76693383	Silent	SNP	C	C3N-01414_TP	103727	76693383	104844876	156	24862											
LVRN	0	.	GRCh38	chr5	115993787	115993787	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggaacaatatctggcTcaacgagggttttgcatctt	9	14	11	7	1	3	0	1	0	2	0	3	2	3	1	0	4	3	3	0	4	4	5	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.1307T>A	p.Leu436His	p.L436H	ENST00000357872	6/20	239	176	63	355	355	0	strelka-varscan-mutect	LVRN,missense_variant,p.Leu436His,ENST00000357872,NM_173800.4;LVRN,missense_variant,p.Leu424His,ENST00000395528,;LVRN,missense_variant,p.Leu436His,ENST00000504467,;LVRN,upstream_gene_variant,,ENST00000503329,;LVRN,upstream_gene_variant,,ENST00000514509,;LVRN,upstream_gene_variant,,ENST00000512314,;	A	ENST00000357872	Transcript	missense_variant	1431/4581	1307/2973	436/990	L/H	cTc/cAc		1		1	LVRN	HGNC	HGNC:26904	protein_coding	YES	CCDS4124.1	ENSP00000350541	Q6Q4G3	A0A0A6YYA2	UPI0000457329	NM_173800.4	deleterious(0)		6/20		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF31,Gene3D:1.10.390.10,Pfam_domain:PF01433,Superfamily_domains:SSF55486,Prints_domain:PR00756																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	115993787	115993787	T	A	1	0	0	0	0	1	0	0	0	8998	1551	54	4		4	LVRN	5	115993787	Missense_Mutation	SNP	T	C3N-01414_TP	39300404	115993787	65544472	157	24863											
DMXL1	0	.	GRCh38	chr5	119177366	119177366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcttagttcatttcaGacgaatcagtttactggaat	10	18	6	7	1	4	1	3	0	1	1	5	3	4	2	0	1	1	2	0	1	4	7	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.6768G>T	p.Gln2256His	p.Q2256H	ENST00000539542	27/44	89	71	18	167	167	0	strelka-varscan-mutect	DMXL1,missense_variant,p.Gln2256His,ENST00000539542,NM_001290321.2;DMXL1,missense_variant,p.Gln2256His,ENST00000311085,NM_001290322.2,NM_005509.5;	T	ENST00000539542	Transcript	missense_variant	6949/11236	6768/9147	2256/3048	Q/H	caG/caT		1		1	DMXL1	HGNC	HGNC:2937	protein_coding	YES	CCDS75289.1	ENSP00000439479		F5H269	UPI000206568B	NM_001290321.2	tolerated(0.38)		27/44		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	119177366	119177366	G	T	1	0	0	0	0	1	0	0	0	4403	933	33	2		2	DMXL1	5	119177366	Missense_Mutation	SNP	G	C3N-01414_TP	3183579	119177366	62360893	158	24864											
FBN2	0	.	GRCh38	chr5	128345425	128345425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccgcgggggcacagcGtctcgtattccttggtgcca	5	8	13	15	4	1	0	0	0	1	0	3	0	2	0	4	3	3	2	4	3	1	3	rs150506063		C3N-01414_TP	C3N-01414_NB	G	G																c.3149C>A	p.Thr1050Lys	p.T1050K	ENST00000508053	30/71	451	340	111	623	623	0	strelka-varscan-mutect	FBN2,missense_variant,p.Thr1050Lys,ENST00000508053,;FBN2,missense_variant,p.Thr1050Lys,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Thr1049Lys,ENST00000619499,;FBN2,missense_variant,p.Thr1017Lys,ENST00000508989,;	T	ENST00000508053	Transcript	missense_variant	4124/11132	3149/8739	1050/2912	T/K	aCg/aAg	rs150506063,COSM3849864,COSM50535	1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		tolerated(0.54)		30/71		Gene3D:3.90.290.10,PD968187,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,Superfamily_domains:SSF57581										uncertain_significance	0,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		rs150506063	.												T	3	4	77	128345425	128345425	G	T	1	0	0	0	0	1	0	0	0	5566	1145	40	1		1	FBN2	5	128345425	Missense_Mutation	SNP	G	C3N-01414_TP	9168059	128345425	53192834	159	24865											
TRPC7	0	.	GRCh38	chr5	136247600	136247600	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatctttcacagttctccctAgcgagatctgcaggggccca	8	11	9	13	1	4	1	1	0	3	1	5	2	4	1	2	2	2	2	2	2	2	4	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1715T>A	p.Leu572Gln	p.L572Q	ENST00000513104	7/12	280	214	66	373	373	0	strelka-varscan-mutect	TRPC7,missense_variant,p.Leu572Gln,ENST00000513104,NM_020389.2;TRPC7,missense_variant,p.Leu517Gln,ENST00000502753,;TRPC7,missense_variant,p.Leu511Gln,ENST00000378459,NM_001167577.1;TRPC7,missense_variant,p.Leu456Gln,ENST00000352189,NM_001167576.1;TRPC7,3_prime_UTR_variant,,ENST00000503275,;TRPC7,3_prime_UTR_variant,,ENST00000514963,;	T	ENST00000513104	Transcript	missense_variant	1998/2987	1715/2589	572/862	L/Q	cTa/cAa		1		-1	TRPC7	HGNC	HGNC:20754	protein_coding	YES	CCDS47267.2	ENSP00000426070	Q9HCX4		UPI000004F27A	NM_020389.2	deleterious(0)		7/12		Pfam_domain:PF00520,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9,TIGRFAM_domain:TIGR00870																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	77	136247600	136247600	A	T	1	0	0	0	0	1	0	0	0	17090	420	15	4		4	TRPC7	5	136247600	Missense_Mutation	SNP	A	C3N-01414_TP	7902175	136247600	45290659	160	24866											
PCDHA7	0	.	GRCh38	chr5	140836477	140836477	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctggtggatgtcaacgtGtacctgatcatcgccatctg	8	11	12	10	2	3	1	2	1	1	0	4	3	3	2	2	2	3	2	2	2	2	1			C3N-01414_TP	C3N-01414_NB	G	G																c.2094G>C	p.=	p.V698V	ENST00000525929	1/4	362	322	40	569	569	0	strelka-varscan-mutect	PCDHA7,synonymous_variant,p.=,ENST00000525929,NM_018910.2;PCDHA7,synonymous_variant,p.=,ENST00000356878,NM_031852.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA8,upstream_gene_variant,,ENST00000531613,NM_018911.2;PCDHA8,upstream_gene_variant,,ENST00000378123,NM_031856.1;	C	ENST00000525929	Transcript	synonymous_variant	2094/5221	2094/2814	698/937	V	gtG/gtC	COSM3851008,COSM3851009	1		1	PCDHA7	HGNC	HGNC:8673	protein_coding	YES	CCDS54918.1	ENSP00000436426	Q9UN72		UPI00001273CF	NM_018910.2			1/4		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												C	2	2	77	140836477	140836477	G	C	1	0	0	0	0	0	0	0	1	11616	1364	48	4		4	PCDHA7	5	140836477	Silent	SNP	G	C3N-01414_TP	4588877	140836477	40701782	161	24867											
PCDHB4	0	.	GRCh38	chr5	141122149	141122149	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcccatctggccaaggatCtgggcctgggaattggggaa	9	8	15	9	0	2	0	0	0	2	0	2	3	2	3	3	6	1	0	3	6	4	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.151C>T	p.=	p.L51L	ENST00000194152	1/1	241	179	62	336	336	0	strelka-varscan-mutect	PCDHB4,synonymous_variant,p.=,ENST00000194152,NM_018938.3;AC005754.8,downstream_gene_variant,,ENST00000606030,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;PCDHB4,intron_variant,,ENST00000623478,;	T	ENST00000194152	Transcript	synonymous_variant	351/3825	151/2388	51/795	L	Ctg/Ttg		1		1	PCDHB4	HGNC	HGNC:8689	protein_coding	YES	CCDS4246.1	ENSP00000194152	Q9Y5E5		UPI00001273DF	NM_018938.3			1/1		Gene3D:2.60.40.60,Pfam_domain:PF08266,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF55,Superfamily_domains:SSF49313																	LOW	1	SNV				1										PASS		.	.												T	2	4	77	141122149	141122149	C	T	1	0	0	0	0	0	0	0	1	11631	912	32	3		3	PCDHB4	5	141122149	Silent	SNP	C	C3N-01414_TP	285672	141122149	40416110	162	24868											
PCDHB5	0	.	GRCh38	chr5	141137459	141137459	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgccgctgccggaggcGgccccggcccaggcccaggc	4	3	15	19	4	0	0	0	0	0	0	0	1	0	1	7	6	3	1	7	6	1	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.2025G>T	p.=	p.A675A	ENST00000231134	1/1	377	303	74	561	559	2	strelka-varscan-mutect	PCDHB5,synonymous_variant,p.=,ENST00000231134,NM_015669.4;PCDHB5,downstream_gene_variant,,ENST00000623915,;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;	T	ENST00000231134	Transcript	synonymous_variant	2242/3408	2025/2388	675/795	A	gcG/gcT		1		1	PCDHB5	HGNC	HGNC:8690	protein_coding	YES	CCDS4247.1	ENSP00000231134	Q9Y5E4		UPI0000169DEA	NM_015669.4			1/1		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF90,Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		.	.												T	2	4	77	141137459	141137459	G	T	1	0	0	0	0	0	0	0	1	11632	1103	39	1		1	PCDHB5	5	141137459	Silent	SNP	G	C3N-01414_TP	15310	141137459	40400800	163	24869											
PCDHB9	0	.	GRCh38	chr5	141188804	141188804	+	Missense_Mutation	SNP	C	C	A																															cgctgctgccgccccaggacCcacacctgcccctcgcctcc																								novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1486C>A	p.Pro496Thr	p.P496T	ENST00000316105	1/1	547	441	106	774	774	0	strelka-varscan-mutect	PCDHB9,missense_variant,p.Pro496Thr,ENST00000316105,NM_019119.4;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.3;PCDHB16,downstream_gene_variant,,ENST00000625044,;PCDHB9,downstream_gene_variant,,ENST00000624909,;CH17-140K24.5,downstream_gene_variant,,ENST00000623884,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,upstream_gene_variant,,ENST00000624089,;CH17-140K24.6,downstream_gene_variant,,ENST00000625144,;PCDHB9,non_coding_transcript_exon_variant,,ENST00000623266,;CH17-140K24.5,downstream_gene_variant,,ENST00000623407,;	A	ENST00000316105	Transcript	missense_variant	1678/4415	1486/2394	496/797	P/T	Cca/Aca		1		1	PCDHB9	HGNC	HGNC:8694	protein_coding	YES	CCDS75328.1	ENSP00000478606	Q9Y5E1		UPI00005764A0	NM_019119.4	deleterious_low_confidence(0.03)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF128,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												A	3	1	77	141188804	141188804	C	A	1	0	0	0	0	1	0	0	0	11636	623	22	2		2	PCDHB9	5	141188804	Missense_Mutation	SNP	C	C3N-01414_TP	51345	141188804	40349455	164	24870	517	2									
PCDHB9	0	.	GRCh38	chr5	141188805	141188805	+	Missense_Mutation	SNP	C	C	A																															gctgctgccgccccaggaccCacacctgcccctcgcctccc																								rs782193026		C3N-01414_TP	C3N-01414_NB	C	C																c.1487C>A	p.Pro496Gln	p.P496Q	ENST00000316105	1/1	547	444	103	776	776	0	strelka-varscan-mutect	PCDHB9,missense_variant,p.Pro496Gln,ENST00000316105,NM_019119.4;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.3;PCDHB16,downstream_gene_variant,,ENST00000625044,;PCDHB9,downstream_gene_variant,,ENST00000624909,;CH17-140K24.5,downstream_gene_variant,,ENST00000623884,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,upstream_gene_variant,,ENST00000624089,;CH17-140K24.6,downstream_gene_variant,,ENST00000625144,;PCDHB9,non_coding_transcript_exon_variant,,ENST00000623266,;CH17-140K24.5,downstream_gene_variant,,ENST00000623407,;	A	ENST00000316105	Transcript	missense_variant	1679/4415	1487/2394	496/797	P/Q	cCa/cAa	rs782193026	1		1	PCDHB9	HGNC	HGNC:8694	protein_coding	YES	CCDS75328.1	ENSP00000478606	Q9Y5E1		UPI00005764A0	NM_019119.4	deleterious_low_confidence(0.03)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF128,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		rs782193026	.												A	3	1	77	141188805	141188805	C	A	1	0	0	0	0	1	0	0	0	11636	594	21	2		2	PCDHB9	5	141188805	Missense_Mutation	SNP	C	C3N-01414_TP	1	141188805	40349454	165	24871	517	2									
PCDHB10	0	.	GRCh38	chr5	141193223	141193223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggtctccatccaggtctgGgacctctactgtacgcatcg	6	11	11	13	2	3	0	0	0	3	0	6	1	4	1	3	3	2	2	3	3	2	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.671G>T	p.Gly224Val	p.G224V	ENST00000239446	1/1	296	254	42	442	442	0	strelka-varscan-mutect	PCDHB10,missense_variant,p.Gly224Val,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,NM_019119.4;PCDHB9,downstream_gene_variant,,ENST00000624909,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.6,intron_variant,,ENST00000625144,;PCDHB9,downstream_gene_variant,,ENST00000623266,;CH17-140K24.5,downstream_gene_variant,,ENST00000623407,;	T	ENST00000239446	Transcript	missense_variant	871/3290	671/2403	224/800	G/V	gGg/gTg		1		1	PCDHB10	HGNC	HGNC:8681	protein_coding	YES	CCDS4252.1	ENSP00000239446	Q9UN67		UPI0000048F2E	NM_018930.3	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF54,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												T	3	4	77	141193223	141193223	G	T	1	0	0	0	0	1	0	0	0	11622	1232	43	2		2	PCDHB10	5	141193223	Missense_Mutation	SNP	G	C3N-01414_TP	4418	141193223	40345036	166	24872											
PCDHGA4	0	.	GRCh38	chr5	141357141	141357141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcttgtagtggtcgtccaGgaccatggccagccccctct	6	9	12	14	1	1	0	0	0	1	0	3	1	2	1	5	4	1	2	5	4	1	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.2034G>T	p.Gln678His	p.Q678H	ENST00000571252	1/4	135	108	27	217	217	0	strelka-varscan-mutect	PCDHGA4,missense_variant,p.Gln678His,ENST00000571252,NM_018917.3;PCDHGA4,missense_variant,p.Gln678His,ENST00000612927,NM_032053.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB2,upstream_gene_variant,,ENST00000522605,NM_018923.2;PCDHGB1,downstream_gene_variant,,ENST00000611598,NM_032095.1;PCDHGB2,upstream_gene_variant,,ENST00000622527,NM_032096.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000571252	Transcript	missense_variant	2117/4778	2034/2889	678/962	Q/H	caG/caT		1		1	PCDHGA4	HGNC	HGNC:8702	protein_coding	YES	CCDS58979.2	ENSP00000458570		A0A087WT05	UPI0003583741	NM_018917.3	deleterious_low_confidence(0.01)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF94,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	141357141	141357141	G	T	1	0	0	0	0	1	0	0	0	11643	991	35	2		2	PCDHGA4	5	141357141	Missense_Mutation	SNP	G	C3N-01414_TP	163918	141357141	40181118	167	24873											
PCDHGB3	0	.	GRCh38	chr5	141370537	141370537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacaggggctcgctggtagGgaacctcgccaaggacctgg	8	5	17	11	2	0	0	0	0	0	0	2	3	0	3	3	7	1	3	3	7	3	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.143G>T	p.Gly48Val	p.G48V	ENST00000576222	1/4	150	110	40	221	220	1	strelka-varscan-mutect	PCDHGB3,missense_variant,p.Gly48Val,ENST00000576222,NM_018924.4;PCDHGB3,missense_variant,p.Gly48Val,ENST00000618934,NM_032097.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA6,upstream_gene_variant,,ENST00000610583,NM_032086.1;PCDHGA6,upstream_gene_variant,,ENST00000517434,NM_018919.2;PCDHGA5,downstream_gene_variant,,ENST00000611914,NM_032054.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000576222	Transcript	missense_variant	274/4727	143/2790	48/929	G/V	gGg/gTg		1		1	PCDHGB3	HGNC	HGNC:8710	protein_coding	YES	CCDS58980.1	ENSP00000461862	Q9Y5G1		UPI0000EE35B5	NM_018924.4	deleterious(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,Pfam_domain:PF08266,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs1484817452	.												T	3	4	77	141370537	141370537	G	T	1	0	0	0	0	1	0	0	0	11651	1232	43	2		2	PCDHGB3	5	141370537	Missense_Mutation	SNP	G	C3N-01414_TP	13396	141370537	40167722	168	24874											
PCDHGB4	0	.	GRCh38	chr5	141388655	141388655	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagaaaacgtgtacccGgggaccacggtgctacaggt	10	8	12	11	3	1	1	1	0	0	1	1	2	1	2	2	4	4	2	2	4	4	3	rs375260597		C3N-01414_TP	C3N-01414_NB	G	G																c.771G>T	p.=	p.P257P	ENST00000519479	1/4	248	175	73	402	402	0	strelka-varscan-mutect	PCDHGB4,synonymous_variant,p.=,ENST00000615384,NM_032098.1;PCDHGB4,synonymous_variant,p.=,ENST00000519479,NM_003736.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA8,upstream_gene_variant,,ENST00000610569,NM_014004.2;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1;PCDHGA7,downstream_gene_variant,,ENST00000617050,NM_032087.2;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000519479	Transcript	synonymous_variant	771/4578	771/2772	257/923	P	ccG/ccT	rs375260597	1		1	PCDHGB4	HGNC	HGNC:8711	protein_coding	YES	CCDS54928.1	ENSP00000428288	Q9UN71		UPI000006F773	NM_003736.2			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF117,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205																	LOW	1	SNV	1			1										PASS		rs375260597	.												T	2	4	77	141388655	141388655	G	T	1	0	0	0	0	0	0	0	1	11652	1103	39	1		1	PCDHGB4	5	141388655	Silent	SNP	G	C3N-01414_TP	18118	141388655	40149604	169	24875											
PCDHGA12	0	.	GRCh38	chr5	141432363	141432363	+	Frame_Shift_Del	DEL	G	G	-																															gcaagtgaaagtgatggcgcGggacaacgggcacccgcccc																								novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1606delG	p.Asp536ThrfsTer13	p.D536Tfs*13	ENST00000252085	1/4	208	158	50	357	357	0	sindel-varindel-pindel	PCDHGA12,frameshift_variant,p.Asp536ThrfsTer13,ENST00000252085,NM_003735.2;PCDHGA12,frameshift_variant,p.Asp536ThrfsTer13,ENST00000613314,NM_032094.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB7,intron_variant,,ENST00000398594,NM_018927.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA11,intron_variant,,ENST00000398587,NM_018914.2;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGA11,intron_variant,,ENST00000518882,NM_032092.1;AC005618.9,upstream_gene_variant,,ENST00000624928,;PCDHGB8P,downstream_gene_variant,,ENST00000502926,;PCDHGA3,intron_variant,,ENST00000612467,;PCDHGB8P,downstream_gene_variant,,ENST00000507007,;	-	ENST00000252085	Transcript	frameshift_variant	1746/4747	1604/2799	535/932	R/X	cGg/cg		1		1	PCDHGA12	HGNC	HGNC:8699	protein_coding	YES	CCDS4260.1	ENSP00000252085	O60330		UPI0000073EA1	NM_003735.2			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF109,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	77	141432363	141432363	G	-	1	0	1	0	1	0	0	0	0	11640	1116	39	0		0	PCDHGA12	5	141432363	Frame_Shift_Del	DEL	G	C3N-01414_TP	43708	141432363	40105896	170	24876											
FCHSD1	0	.	GRCh38	chr5	141644349	141644349	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctactccatcttgggcccGgggcagcagacggatgagtg	8	8	14	11	2	2	2	0	1	2	1	3	3	3	3	2	4	2	2	2	4	1	2	rs766658544		C3N-01414_TP	C3N-01414_NB	G	G																c.1732C>A	p.=	p.R578R	ENST00000435817	17/20	364	277	87	503	502	1	strelka-varscan-mutect	FCHSD1,synonymous_variant,p.=,ENST00000435817,NM_033449.2;FCHSD1,synonymous_variant,p.=,ENST00000522783,;RELL2,downstream_gene_variant,,ENST00000297164,NM_173828.4;RELL2,downstream_gene_variant,,ENST00000444782,NM_001130029.1;RELL2,downstream_gene_variant,,ENST00000521367,;RELL2,downstream_gene_variant,,ENST00000518856,;FCHSD1,downstream_gene_variant,,ENST00000519800,;FCHSD1,downstream_gene_variant,,ENST00000518499,;FCHSD1,non_coding_transcript_exon_variant,,ENST00000523856,;RELL2,downstream_gene_variant,,ENST00000518025,;RELL2,downstream_gene_variant,,ENST00000520674,;RELL2,downstream_gene_variant,,ENST00000517794,;FCHSD1,upstream_gene_variant,,ENST00000518160,;FCHSD1,downstream_gene_variant,,ENST00000522386,;FCHSD1,downstream_gene_variant,,ENST00000522763,;FCHSD1,3_prime_UTR_variant,,ENST00000522126,;FCHSD1,upstream_gene_variant,,ENST00000520747,;	T	ENST00000435817	Transcript	synonymous_variant	1783/4320	1732/2073	578/690	R	Cgg/Agg	rs766658544	1		-1	FCHSD1	HGNC	HGNC:25463	protein_coding	YES	CCDS47295.1	ENSP00000399259	Q86WN1		UPI000000D903	NM_033449.2			17/20		PROSITE_profiles:PS50002,hmmpanther:PTHR15735:SF4,hmmpanther:PTHR15735,Gene3D:2.30.30.40,Pfam_domain:PF14604,SMART_domains:SM00326,Superfamily_domains:SSF50044																	LOW	1	SNV	1			1										PASS		rs766658544	.												T	2	4	77	141644349	141644349	G	T	1	0	0	0	0	0	0	0	1	5651	1115	39	1		1	FCHSD1	5	141644349	Silent	SNP	G	C3N-01414_TP	211986	141644349	39893910	171	24877											
PCDH1	0	.	GRCh38	chr5	141864750	141864750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcatcactggcagtgatCtcagcaatcacttcaccagg	11	9	8	13	0	5	1	5	1	1	0	6	1	5	1	1	2	2	3	1	2	1	1			C3N-01414_TP	C3N-01414_NB	C	C																c.1581G>T	p.Glu527Asp	p.E527D	ENST00000287008	3/5	249	183	66	365	364	1	strelka-varscan-mutect	PCDH1,missense_variant,p.Glu527Asp,ENST00000287008,NM_032420.3;PCDH1,missense_variant,p.Glu527Asp,ENST00000394536,NM_001278613.1,NM_002587.4;PCDH1,3_prime_UTR_variant,,ENST00000515351,;PCDH1,intron_variant,,ENST00000503492,;PCDH1,downstream_gene_variant,,ENST00000514773,;PCDH1,non_coding_transcript_exon_variant,,ENST00000357517,;PCDH1,non_coding_transcript_exon_variant,,ENST00000511044,;PCDH1,downstream_gene_variant,,ENST00000505937,;	A	ENST00000287008	Transcript	missense_variant	1729/4793	1581/3714	527/1237	E/D	gaG/gaT	COSM4529041,COSM4529042	1		-1	PCDH1	HGNC	HGNC:8655	protein_coding	YES	CCDS4267.1	ENSP00000287008	Q08174		UPI000016158F	NM_032420.3	tolerated(0.65)		3/5		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF326,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	77	141864750	141864750	C	A	1	0	0	0	0	1	0	0	0	11593	912	32	2		2	PCDH1	5	141864750	Missense_Mutation	SNP	C	C3N-01414_TP	220401	141864750	39673509	172	24878											
SPINK6	0	.	GRCh38	chr5	148214937	148214937	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagattagcctaaagcatcCtggaaaatgctgagttaaag	17	9	9	6	0	0	2	0	1	0	1	1	3	1	3	2	1	3	3	2	1	8	3	rs762291568		C3N-01414_TP	C3N-01414_NB	C	C																c.230C>G	p.Pro77Arg	p.P77R	ENST00000325630	4/4	196	176	20	293	293	0	strelka-varscan-mutect	SPINK6,missense_variant,p.Pro77Arg,ENST00000325630,NM_205841.3;SPINK6,missense_variant,p.Pro77Arg,ENST00000621437,NM_001195290.1;SPINK6,downstream_gene_variant,,ENST00000514389,;	G	ENST00000325630	Transcript	missense_variant	486/686	230/243	77/80	P/R	cCt/cGt	rs762291568,COSM3612205	1		1	SPINK6	HGNC	HGNC:29486	protein_coding	YES	CCDS34268.1	ENSP00000324870	Q6UWN8		UPI000004BA6C	NM_205841.3	tolerated(0.49)		4/4		Gene3D:1.10.1890.10,Pfam_domain:PF00050,PROSITE_profiles:PS51465,hmmpanther:PTHR10913,SMART_domains:SM00280,Superfamily_domains:SSF100895											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs762291568	.												G	3	3	77	148214937	148214937	C	G	1	0	0	0	0	1	0	0	0	15416	681	24	4		4	SPINK6	5	148214937	Missense_Mutation	SNP	C	C3N-01414_TP	6350187	148214937	33323322	173	24879											
HTR4	0	.	GRCh38	chr5	148509532	148509532	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaatggaaggtcttcggtAgcgctcatcatcacagcaga	12	8	11	10	2	4	2	3	0	1	2	5	3	4	3	0	3	2	3	0	3	3	2	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1000T>C	p.Tyr334His	p.Y334H	ENST00000360693	6/8	162	116	46	240	240	0	strelka-varscan-mutect	HTR4,missense_variant,p.Tyr334His,ENST00000360693,;HTR4,missense_variant,p.Tyr334His,ENST00000362016,NM_001040173.2;HTR4,missense_variant,p.Tyr334His,ENST00000377888,NM_000870.6;HTR4,missense_variant,p.Tyr334His,ENST00000521530,NM_001040169.2;HTR4,missense_variant,p.Tyr334His,ENST00000521735,NM_199453.3;HTR4,missense_variant,p.Tyr334His,ENST00000520514,NM_001286410.1;HTR4,missense_variant,p.Tyr334His,ENST00000631296,;HTR4,missense_variant,p.Tyr334His,ENST00000517929,NM_001040172.2;HTR4,missense_variant,p.Tyr334His,ENST00000524063,;HTR4,missense_variant,p.Tyr334His,ENST00000522588,;HTR4,non_coding_transcript_exon_variant,,ENST00000521124,;	G	ENST00000360693	Transcript	missense_variant	1139/3082	1000/1287	334/428	Y/H	Tac/Cac		1		-1	HTR4	HGNC	HGNC:5299	protein_coding	YES	CCDS34272.1	ENSP00000353915	Q13639		UPI00002323B1		deleterious(0.01)		6/8		hmmpanther:PTHR24249:SF33,hmmpanther:PTHR24249,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01059																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	77	148509532	148509532	A	G	1	0	0	0	0	1	0	0	0	7345	420	15	5		5	HTR4	5	148509532	Missense_Mutation	SNP	A	C3N-01414_TP	294595	148509532	33028727	174	24880											
SLC6A7	0	.	GRCh38	chr5	150201206	150201206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaccccccagttccacCacttgttgtcttccaaggtg	7	12	6	16	0	2	0	1	0	2	0	5	0	4	0	6	1	0	2	6	1	1	4			C3N-01414_TP	C3N-01414_NB	C	C																c.841C>A	p.His281Asn	p.H281N	ENST00000230671	6/14	99	81	18	120	120	0	strelka-varscan-mutect	SLC6A7,missense_variant,p.His281Asn,ENST00000230671,NM_014228.3;SLC6A7,missense_variant,p.His281Asn,ENST00000524041,;	A	ENST00000230671	Transcript	missense_variant	1212/3739	841/1911	281/636	H/N	Cac/Aac	COSM215970	1		1	SLC6A7	HGNC	HGNC:11054	protein_coding	YES	CCDS4305.1	ENSP00000230671	Q99884		UPI000013C93C	NM_014228.3	deleterious(0.04)		6/14		PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF35,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687											1						MODERATE	1	SNV	1		1	1										PASS		rs960870506	.												A	3	1	77	150201206	150201206	C	A	1	0	0	0	0	1	0	0	0	14972	594	21	2		2	SLC6A7	5	150201206	Missense_Mutation	SNP	C	C3N-01414_TP	1691674	150201206	31337053	175	24881											
PPP1R2P3	0	.	GRCh38	chr5	156850962	156850962	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgacctctcacctgaagaaCgagaaaaaaagcgacaattt	17	7	8	9	2	1	4	1	2	1	2	2	6	1	4	2	0	2	0	2	0	6	1	rs183405829		C3N-01414_TP	C3N-01414_NB	C	C																c.400C>G	p.Arg134Gly	p.R134G	ENST00000522232	1/1	387	297	90	632	632	0	strelka-varscan-mutect	PPP1R2P3,missense_variant,p.Arg134Gly,ENST00000522232,;	G	ENST00000522232	Transcript	missense_variant	425/1991	400/618	134/205	R/G	Cga/Gga	rs183405829	1		1	PPP1R2P3	HGNC	HGNC:16318	protein_coding	YES		ENSP00000490297		G1AUC5	UPI000013EC9E				1/1		Pfam_domain:PF04979,hmmpanther:PTHR12398,hmmpanther:PTHR12398:SF23																	MODERATE	1	SNV				1										PASS		rs183405829	.												G	3	3	77	156850962	156850962	C	G	1	0	0	0	0	1	0	0	0	12486	528	19	4		4	PPP1R2P3	5	156850962	Missense_Mutation	SNP	C	C3N-01414_TP	6649756	156850962	24687297	176	24882											
EBF1	0	.	GRCh38	chr5	158712188	158712188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggcagctgagccgttgagGaaggtgggggagccgcccaa	8	6	18	9	2	0	2	0	2	0	0	0	4	0	4	3	5	3	3	3	5	2	2			C3N-01414_TP	C3N-01414_NB	G	G																c.1515C>A	p.Phe505Leu	p.F505L	ENST00000313708	14/16	162	131	31	270	270	0	strelka-varscan-mutect	EBF1,missense_variant,p.Phe505Leu,ENST00000313708,NM_001324107.1,NM_024007.3,NM_001290360.1;EBF1,missense_variant,p.Phe321Leu,ENST00000622875,;EBF1,missense_variant,p.Phe474Leu,ENST00000380654,NM_182708.1;EBF1,intron_variant,,ENST00000517373,;EBF1,non_coding_transcript_exon_variant,,ENST00000518836,;EBF1,upstream_gene_variant,,ENST00000518323,;EBF1,non_coding_transcript_exon_variant,,ENST00000519739,;EBF1,non_coding_transcript_exon_variant,,ENST00000519890,;EBF1,non_coding_transcript_exon_variant,,ENST00000522192,;	T	ENST00000313708	Transcript	missense_variant	1798/5250	1515/1776	505/591	F/L	ttC/ttA	COSM5590713	1		-1	EBF1	HGNC	HGNC:3126	protein_coding	YES	CCDS4343.1	ENSP00000322898	Q9UH73		UPI000000D95E	NM_001324107.1,NM_024007.3,NM_001290360.1	tolerated_low_confidence(0.05)		14/16		hmmpanther:PTHR10747											1						MODERATE	1	SNV	1		1	1										PASS		rs1211160649	.												T	3	4	77	158712188	158712188	G	T	1	0	0	0	0	1	0	0	0	4704	1165	41	2		2	EBF1	5	158712188	Missense_Mutation	SNP	G	C3N-01414_TP	1861226	158712188	22826071	177	24883											
GABRA1	0	.	GRCh38	chr5	161882603	161882603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgaatggaccagagagcCagcacgctcagtggttgtag	11	9	13	8	1	1	2	1	1	0	1	1	4	1	3	2	2	2	4	2	2	3	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.605C>A	p.Pro202Gln	p.P202Q	ENST00000393943	7/10	346	306	40	557	556	1	strelka-varscan-mutect	GABRA1,missense_variant,p.Pro202Gln,ENST00000393943,NM_001127644.1,NM_001127648.1;GABRA1,missense_variant,p.Pro202Gln,ENST00000428797,NM_001127643.1;GABRA1,missense_variant,p.Pro217Gln,ENST00000638159,;GABRA1,missense_variant,p.Pro202Gln,ENST00000437025,NM_001127645.1;GABRA1,missense_variant,p.Pro202Gln,ENST00000638112,;GABRA1,missense_variant,p.Pro202Gln,ENST00000636573,;GABRA1,missense_variant,p.Pro202Gln,ENST00000023897,NM_000806.5;GABRA1,missense_variant,p.Pro202Gln,ENST00000637827,;GABRA1,missense_variant,p.Pro202Gln,ENST00000635880,;GABRA1,missense_variant,p.Pro202Gln,ENST00000634335,;GABRA1,non_coding_transcript_exon_variant,,ENST00000636408,;GABRA1,downstream_gene_variant,,ENST00000635916,;GABRA1,3_prime_UTR_variant,,ENST00000637044,;GABRA1,3_prime_UTR_variant,,ENST00000636340,;GABRA1,non_coding_transcript_exon_variant,,ENST00000519542,;	A	ENST00000393943	Transcript	missense_variant	1388/4686	605/1371	202/456	P/Q	cCa/cAa		1		1	GABRA1	HGNC	HGNC:4075	protein_coding	YES	CCDS4357.1	ENSP00000377517	P14867		UPI000012AF95	NM_001127644.1,NM_001127648.1	deleterious(0.04)		7/10		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF514,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		rs1442004290	.												A	3	1	77	161882603	161882603	C	A	1	0	0	0	0	1	0	0	0	6031	594	21	2		2	GABRA1	5	161882603	Missense_Mutation	SNP	C	C3N-01414_TP	3170415	161882603	19655656	178	24884											
SLIT3	0	.	GRCh38	chr5	168700679	168700679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcacagtgcagtccttgcCctgaggagcaaaagagggag	11	5	16	9	0	0	2	0	1	0	1	1	4	1	4	2	3	3	3	2	3	2	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.2866G>T	p.Gly956Cys	p.G956C	ENST00000332966	27/36	158	117	41	256	256	0	strelka-varscan-mutect	SLIT3,missense_variant,p.Gly949Cys,ENST00000519560,NM_003062.3;SLIT3,missense_variant,p.Gly819Cys,ENST00000404867,;SLIT3,missense_variant,p.Gly956Cys,ENST00000332966,NM_001271946.1;SLIT3,upstream_gene_variant,,ENST00000518092,;	A	ENST00000332966	Transcript	missense_variant,splice_region_variant	2939/4895	2866/4593	956/1530	G/C	Ggc/Tgc		1		-1	SLIT3	HGNC	HGNC:11087	protein_coding	YES	CCDS64311.1	ENSP00000332164	O75094		UPI0001E8F75D	NM_001271946.1	deleterious(0)		27/36		PROSITE_profiles:PS50026,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	168700679	168700679	C	A	1	0	0	0	0	1	0	0	0	15032	637	22	2		2	SLIT3	5	168700679	Missense_Mutation	SNP	C	C3N-01414_TP	6818076	168700679	12837580	179	24885											
TLX3	0	.	GRCh38	chr5	171310199	171310199	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccggcgcatcggccacccCtaccagaaccggacgccgcc	8	2	10	21	6	0	1	0	0	0	1	1	2	0	2	8	3	2	1	8	3	2	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.471C>A	p.=	p.P157P	ENST00000296921	2/3	233	184	49	293	293	0	strelka-varscan-mutect	TLX3,synonymous_variant,p.=,ENST00000296921,NM_021025.2;RP11-546B8.6,upstream_gene_variant,,ENST00000619056,;	A	ENST00000296921	Transcript	synonymous_variant	553/1493	471/876	157/291	P	ccC/ccA		1		1	TLX3	HGNC	HGNC:13532	protein_coding	YES	CCDS34288.1	ENSP00000296921	O43711		UPI000013E3AA	NM_021025.2			2/3		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF154,Superfamily_domains:SSF46689																	LOW	1	SNV	1			1										PASS		rs1211964256	.												A	2	1	77	171310199	171310199	C	A	1	0	0	0	0	0	0	0	1	16407	668	24	2		2	TLX3	5	171310199	Silent	SNP	C	C3N-01414_TP	2609520	171310199	10228060	180	24886											
FAM153B	0	.	GRCh38	chr5	176103271	176103271	+	Nonsense_Mutation	SNP	G	G	T																															agctgtccagttacaacggcGaggaggaggacccagaggag																								rs372062045		C3N-01414_TP	C3N-01414_NB	G	G																c.478G>T	p.Glu160Ter	p.E160*	ENST00000515817	12/20	492	443	49	759	759	0	varscan-mutect	FAM153B,stop_gained,p.Glu160Ter,ENST00000515817,NM_001265615.1;FAM153B,stop_gained,p.Glu237Ter,ENST00000253490,;FAM153B,stop_gained,p.Glu160Ter,ENST00000510151,;FAM153B,intron_variant,,ENST00000512862,;FAM153B,intron_variant,,ENST00000611539,;FAM153B,downstream_gene_variant,,ENST00000503724,;FAM153B,non_coding_transcript_exon_variant,,ENST00000393522,;FAM153B,stop_gained,p.Glu160Ter,ENST00000508296,;	T	ENST00000515817	Transcript	stop_gained	762/1966	478/933	160/310	E/*	Gag/Tag	rs372062045	1		1	FAM153B	HGNC	HGNC:27323	protein_coding	YES	CCDS43401.2	ENSP00000427684		D6RF84	UPI00001D7EF3	NM_001265615.1			12/20		Pfam_domain:PF15722,hmmpanther:PTHR40712,hmmpanther:PTHR40712:SF1																	HIGH	1	SNV	5			1										PASS		rs372062045	.												T	4	4	77	176103271	176103271	G	T	1	0	0	0	0	0	1	0	0	5311	1059	37	1		1	FAM153B	5	176103271	Nonsense_Mutation	SNP	G	C3N-01414_TP	4793072	176103271	5434988	181	24887	518	2									
FAM153B	0	.	GRCh38	chr5	176103272	176103272	+	Missense_Mutation	SNP	A	A	T																															gctgtccagttacaacggcgAggaggaggacccagaggagg																								novel		C3N-01414_TP	C3N-01414_NB	A	A																c.479A>T	p.Glu160Val	p.E160V	ENST00000515817	12/20	484	437	47	758	758	0	varscan-mutect	FAM153B,missense_variant,p.Glu160Val,ENST00000515817,NM_001265615.1;FAM153B,missense_variant,p.Glu237Val,ENST00000253490,;FAM153B,missense_variant,p.Glu160Val,ENST00000510151,;FAM153B,intron_variant,,ENST00000512862,;FAM153B,intron_variant,,ENST00000611539,;FAM153B,downstream_gene_variant,,ENST00000503724,;FAM153B,non_coding_transcript_exon_variant,,ENST00000393522,;FAM153B,missense_variant,p.Glu160Val,ENST00000508296,;	T	ENST00000515817	Transcript	missense_variant	763/1966	479/933	160/310	E/V	gAg/gTg		1		1	FAM153B	HGNC	HGNC:27323	protein_coding	YES	CCDS43401.2	ENSP00000427684		D6RF84	UPI00001D7EF3	NM_001265615.1	deleterious_low_confidence(0.02)		12/20		Pfam_domain:PF15722,hmmpanther:PTHR40712,hmmpanther:PTHR40712:SF1																	MODERATE	1	SNV	5			1										PASS		rs1244977241	.												T	3	4	77	176103272	176103272	A	T	1	0	0	0	0	1	0	0	0	5311	304	11	4		4	FAM153B	5	176103272	Missense_Mutation	SNP	A	C3N-01414_TP	1	176103272	5434987	182	24888	518	2									
DOK3	0	.	GRCh38	chr5	177504153	177504153	+	Missense_Mutation	SNP	G	G	A																															actgtcgttggccgggccggGccagctcaagtcctggccgt																								novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1321C>T	p.Pro441Ser	p.P441S	ENST00000357198	6/6	216	169	47	319	318	1	strelka-varscan-mutect	DOK3,missense_variant,p.Pro385Ser,ENST00000501403,NM_001308236.1,NM_001308235.1;DOK3,missense_variant,p.Pro441Ser,ENST00000357198,NM_024872.2;DOK3,intron_variant,,ENST00000312943,NM_001144875.1;DOK3,intron_variant,,ENST00000377112,NM_001144876.1;DOK3,downstream_gene_variant,,ENST00000510380,;DOK3,downstream_gene_variant,,ENST00000509310,;DOK3,downstream_gene_variant,,ENST00000506493,;DOK3,downstream_gene_variant,,ENST00000502885,;DOK3,downstream_gene_variant,,ENST00000510898,;RP11-1334A24.6,downstream_gene_variant,,ENST00000506025,;DOK3,intron_variant,,ENST00000500323,;DOK3,downstream_gene_variant,,ENST00000502380,;	A	ENST00000357198	Transcript	missense_variant	1326/1729	1321/1491	441/496	P/S	Ccc/Tcc		1		-1	DOK3	HGNC	HGNC:24583	protein_coding	YES	CCDS4426.1	ENSP00000349727	Q7L591	A0A024R7M5	UPI000013DA2C	NM_024872.2	tolerated(0.2)		6/6		hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF42																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	77	177504153	177504153	G	A	1	0	0	0	0	1	0	0	0	4513	1203	42	3		3	DOK3	5	177504153	Missense_Mutation	SNP	G	C3N-01414_TP	1400881	177504153	4034106	183	24889	519	2									
DOK3	0	.	GRCh38	chr5	177504154	177504154	+	Missense_Mutation	SNP	C	C	A																															ctgtcgttggccgggccgggCcagctcaagtcctggccgtt																								novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1320G>T	p.Trp440Cys	p.W440C	ENST00000357198	6/6	213	166	47	319	317	2	strelka-varscan-mutect	DOK3,missense_variant,p.Trp384Cys,ENST00000501403,NM_001308236.1,NM_001308235.1;DOK3,missense_variant,p.Trp440Cys,ENST00000357198,NM_024872.2;DOK3,intron_variant,,ENST00000312943,NM_001144875.1;DOK3,intron_variant,,ENST00000377112,NM_001144876.1;DOK3,downstream_gene_variant,,ENST00000510380,;DOK3,downstream_gene_variant,,ENST00000509310,;DOK3,downstream_gene_variant,,ENST00000506493,;DOK3,downstream_gene_variant,,ENST00000502885,;DOK3,downstream_gene_variant,,ENST00000510898,;RP11-1334A24.6,downstream_gene_variant,,ENST00000506025,;DOK3,intron_variant,,ENST00000500323,;DOK3,downstream_gene_variant,,ENST00000502380,;	A	ENST00000357198	Transcript	missense_variant	1325/1729	1320/1491	440/496	W/C	tgG/tgT		1		-1	DOK3	HGNC	HGNC:24583	protein_coding	YES	CCDS4426.1	ENSP00000349727	Q7L591	A0A024R7M5	UPI000013DA2C	NM_024872.2	tolerated(0.06)		6/6		hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF42																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	77	177504154	177504154	C	A	1	0	0	0	0	1	0	0	0	4513	740	26	2		2	DOK3	5	177504154	Missense_Mutation	SNP	C	C3N-01414_TP	1	177504154	4034105	184	24890	519	2									
GRM6	0	.	GRCh38	chr5	178994854	178994854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccgccaggcgcacagagcCcgccgcgcgcgccaggcccg	5	0	15	21	8	0	1	0	0	0	1	0	1	0	1	6	2	1	1	6	2	0	0	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.91G>T	p.Gly31Cys	p.G31C	ENST00000231188	1/10	44	33	11	47	47	0	strelka-varscan-mutect	GRM6,missense_variant,p.Gly31Cys,ENST00000231188,NM_000843.3;GRM6,missense_variant,p.Gly31Cys,ENST00000517717,;RP11-281O15.4,downstream_gene_variant,,ENST00000519491,;GRM6,downstream_gene_variant,,ENST00000519175,;RP11-281O15.5,downstream_gene_variant,,ENST00000521486,;	A	ENST00000231188	Transcript	missense_variant	270/6143	91/2634	31/877	G/C	Ggc/Tgc		1		-1	GRM6	HGNC	HGNC:4598	protein_coding	YES	CCDS4442.1	ENSP00000231188	O15303		UPI000013C947	NM_000843.3	deleterious(0.05)		1/10		hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF24,Prints_domain:PR01056																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	77	178994854	178994854	C	A	1	0	0	0	0	1	0	0	0	6683	623	22	2		2	GRM6	5	178994854	Missense_Mutation	SNP	C	C3N-01414_TP	1490700	178994854	2543405	185	24891											
DUSP22	0	.	GRCh38	chr6	348263	348263	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggagtttgagaagcatGaggtccatcaggtaagcagt	12	9	13	7	0	1	2	1	2	0	1	3	4	3	3	2	3	2	4	2	3	2	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.424G>T	p.Glu142Ter	p.E142*	ENST00000419235	6/7	143	131	12	211	211	0	varscan-mutect	DUSP22,stop_gained,p.Glu39Ter,ENST00000604971,;DUSP22,stop_gained,p.Glu142Ter,ENST00000419235,NM_001286555.1;DUSP22,stop_gained,p.Glu142Ter,ENST00000344450,NM_020185.4;DUSP22,stop_gained,p.Glu39Ter,ENST00000605035,;DUSP22,stop_gained,p.Glu39Ter,ENST00000605315,;DUSP22,stop_gained,p.Glu39Ter,ENST00000603453,;DUSP22,stop_gained,p.Glu39Ter,ENST00000605863,;DUSP22,downstream_gene_variant,,ENST00000603881,;DUSP22,downstream_gene_variant,,ENST00000603296,;DUSP22,non_coding_transcript_exon_variant,,ENST00000604914,;DUSP22,non_coding_transcript_exon_variant,,ENST00000604988,;DUSP22,non_coding_transcript_exon_variant,,ENST00000603005,;DUSP22,downstream_gene_variant,,ENST00000603290,;DUSP22,downstream_gene_variant,,ENST00000605391,;DUSP22,3_prime_UTR_variant,,ENST00000603795,;DUSP22,3_prime_UTR_variant,,ENST00000603726,;	T	ENST00000419235	Transcript	stop_gained	502/3098	424/618	142/205	E/*	Gag/Tag		1		1	DUSP22	HGNC	HGNC:16077	protein_coding	YES	CCDS69035.1	ENSP00000397459	Q9NRW4		UPI000020E3B7	NM_001286555.1			6/7		Gene3D:3.90.190.10,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF29																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	77	348263	348263	G	T	1	0	0	0	0	0	1	0	0	4643	1291	45	2		2	DUSP22	6	348263	Nonsense_Mutation	SNP	G	C3N-01414_TP		348263	170457716	186	24892											
WRNIP1	0	.	GRCh38	chr6	2785099	2785099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacgtcaaagcctgcctgagGaaccaccaggggccactgcc	11	4	11	15	1	1	1	1	1	0	0	1	2	1	2	6	3	5	0	6	3	3	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1815G>T	p.Arg605Ser	p.R605S	ENST00000380773	7/7	395	291	104	661	661	0	strelka-varscan-mutect	WRNIP1,missense_variant,p.Arg385Ser,ENST00000380769,;WRNIP1,missense_variant,p.Arg605Ser,ENST00000380773,;WRNIP1,missense_variant,p.Arg605Ser,ENST00000618555,NM_020135.2;WRNIP1,missense_variant,p.Arg580Ser,ENST00000380771,NM_130395.2;WRNIP1,missense_variant,p.Arg221Ser,ENST00000380764,;	T	ENST00000380773	Transcript	missense_variant	2024/2670	1815/1998	605/665	R/S	agG/agT		1		1	WRNIP1	HGNC	HGNC:20876	protein_coding	YES	CCDS4475.1	ENSP00000370150	Q96S55		UPI000004A506		deleterious(0.02)		7/7		Gene3D:1.10.3710.10,Pfam_domain:PF12002,hmmpanther:PTHR13779,hmmpanther:PTHR13779:SF7,Superfamily_domains:SSF48019																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	2785099	2785099	G	T	1	0	0	0	0	1	0	0	0	17960	1165	41	2		2	WRNIP1	6	2785099	Missense_Mutation	SNP	G	C3N-01414_TP	2436836	2785099	168020880	187	24893											
LY86	0	.	GRCh38	chr6	6624932	6624932	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcttcttcgtagatccatTacaagattttggcttttctg	7	20	6	8	1	3	2	0	0	3	2	5	2	4	2	1	1	1	2	1	1	3	9	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.143T>A	p.Leu48Ter	p.L48*	ENST00000379953	3/6	162	118	44	317	317	0	strelka-varscan-mutect	LY86,stop_gained,p.Leu48Ter,ENST00000379953,;LY86,stop_gained,p.Leu48Ter,ENST00000230568,NM_004271.3;LY86-AS1,upstream_gene_variant,,ENST00000435641,;LY86-AS1,upstream_gene_variant,,ENST00000429345,;LY86-AS1,upstream_gene_variant,,ENST00000607278,;LY86-AS1,upstream_gene_variant,,ENST00000606044,;	A	ENST00000379953	Transcript	stop_gained	495/1197	143/489	48/162	L/*	tTa/tAa		1		1	LY86	HGNC	HGNC:16837	protein_coding	YES	CCDS4498.1	ENSP00000369286	O95711		UPI0000001C73				3/6		Gene3D:2.60.40.770,hmmpanther:PTHR20838,hmmpanther:PTHR20838:SF0,SMART_domains:SM00737,Superfamily_domains:SSF81296																	HIGH		SNV	5			1										PASS		.	.												A	4	1	77	6624932	6624932	T	A	1	0	0	0	0	0	1	0	0	9011	1764	61	4		4	LY86	6	6624932	Nonsense_Mutation	SNP	T	C3N-01414_TP	3839833	6624932	164181047	188	24894											
MCUR1	0	.	GRCh38	chr6	13802300	13802300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgttggcctccaggatCttgaccaatgcagacacaat	11	10	8	12	0	1	2	0	1	1	1	3	3	3	3	4	2	1	2	4	2	2	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.582G>T	p.Lys194Asn	p.K194N	ENST00000379170	3/9	202	149	53	334	334	0	strelka-varscan-mutect	MCUR1,missense_variant,p.Lys194Asn,ENST00000379170,NM_001031713.3;MCUR1,upstream_gene_variant,,ENST00000607303,;MCUR1,3_prime_UTR_variant,,ENST00000488770,;	A	ENST00000379170	Transcript	missense_variant	721/5471	582/1080	194/359	K/N	aaG/aaT		1		-1	MCUR1	HGNC	HGNC:21097	protein_coding	YES	CCDS35495.1	ENSP00000368468	Q96AQ8		UPI0000072AC6	NM_001031713.3	tolerated(0.18)		3/9		Pfam_domain:PF07798,hmmpanther:PTHR14360,hmmpanther:PTHR14360:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	13802300	13802300	C	A	1	0	0	0	0	1	0	0	0	9340	912	32	2		2	MCUR1	6	13802300	Missense_Mutation	SNP	C	C3N-01414_TP	7177368	13802300	157003679	189	24895											
JARID2	0	.	GRCh38	chr6	15410222	15410222	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtccccttttctcacctgtAgggctccttggtaatgacca	6	14	8	13	0	1	1	1	1	1	0	4	1	3	1	5	2	0	3	5	2	2	5	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.182-2A>G		p.X61_splice	ENST00000341776		90	67	23	182	182	0	strelka-varscan-mutect	JARID2,splice_acceptor_variant,,ENST00000341776,NM_004973.3;JARID2,splice_acceptor_variant,,ENST00000397311,NM_001267040.1;	G	ENST00000341776	Transcript	splice_acceptor_variant	-/5755	182/3741	61/1246				1		1	JARID2	HGNC	HGNC:6196	protein_coding	YES	CCDS4533.1	ENSP00000341280	Q92833		UPI0000161C67	NM_004973.3				2/17																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	77	15410222	15410222	A	G	1	0	0	0	0	0	0	1	0	7859	434	15	5		5	JARID2	6	15410222	Splice_Site	SNP	A	C3N-01414_TP	1607922	15410222	155395757	190	24896											
HIST1H2BB	0	.	GRCh38	chr6	26043286	26043286	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacataagcacttatttagaGctagtgtacttggtaactgc	12	14	8	7	0	0	1	0	0	0	1	0	1	0	1	0	1	6	4	0	1	7	9	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.372C>T	p.=	p.S124S	ENST00000615966	1/1	63	44	19	101	101	0	strelka-varscan-mutect	HIST1H2BB,synonymous_variant,p.=,ENST00000615966,NM_021062.2;HIST1H3C,upstream_gene_variant,,ENST00000612966,NM_003531.2;U91328.2,upstream_gene_variant,,ENST00000454320,;	A	ENST00000615966	Transcript	synonymous_variant	372/381	372/381	124/126	S	agC/agT		1		-1	HIST1H2BB	HGNC	HGNC:4751	protein_coding	YES	CCDS4575.1	ENSP00000482674	P33778		UPI0000001BD2	NM_021062.2			1/1		hmmpanther:PTHR23428,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113																	LOW	1	SNV				1										PASS		.	.												A	2	1	77	26043286	26043286	G	A	1	0	0	0	0	0	0	0	1	7029	962	34	3		3	HIST1H2BB	6	26043286	Silent	SNP	G	C3N-01414_TP	10633064	26043286	144762693	191	24897											
NOTCH4	0	.	GRCh38	chr6	32219657	32219657	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcctgggtggcagggcTgggagaggcactcattgtga	6	10	17	8	0	1	2	1	1	0	1	2	3	2	2	1	5	1	4	1	5	0	2	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.1445A>T	p.Gln482Leu	p.Q482L	ENST00000375023	8/30	183	153	30	306	306	0	strelka-varscan-mutect	NOTCH4,missense_variant,p.Gln482Leu,ENST00000375023,NM_004557.3;NOTCH4,non_coding_transcript_exon_variant,,ENST00000473562,;	A	ENST00000375023	Transcript	missense_variant	1584/6745	1445/6012	482/2003	Q/L	cAg/cTg		1		-1	NOTCH4	HGNC	HGNC:7884	protein_coding	YES	CCDS34420.1	ENSP00000364163	Q99466		UPI0000130571	NM_004557.3	deleterious(0.01)		8/30		PROSITE_profiles:PS50026,hmmpanther:PTHR24033:SF64,hmmpanther:PTHR24033,PROSITE_patterns:PS01187,Gene3D:2gy5A03,Pfam_domain:PF00008,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	32219657	32219657	T	A	1	0	0	0	0	1	0	0	0	10596	1580	55	4		4	NOTCH4	6	32219657	Missense_Mutation	SNP	T	C3N-01414_TP	6176371	32219657	138586322	192	24898											
HLA-DRB5	0	.	GRCh38	chr6	32519526	32519526	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccaccccagccttctcttCctggctgttccggaaccacc	6	9	6	20	1	1	0	0	0	1	0	4	1	3	1	8	2	2	2	8	2	1	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.496G>T	p.Glu166Ter	p.E166*	ENST00000374975	3/6	226	214	12	470	470	0	varscan-mutect	HLA-DRB5,stop_gained,p.Glu166Ter,ENST00000374975,NM_002125.3;	A	ENST00000374975	Transcript	stop_gained	559/1260	496/801	166/266	E/*	Gaa/Taa		1		-1	HLA-DRB5	HGNC	HGNC:4953	protein_coding	YES	CCDS4751.1	ENSP00000364114	Q30154		UPI000008AF56	NM_002125.3			3/6		PROSITE_profiles:PS50835,hmmpanther:PTHR19944:SF57,hmmpanther:PTHR19944,Gene3D:2.60.40.10,Pfam_domain:PF07654,SMART_domains:SM00407,Superfamily_domains:SSF48726																	HIGH	1	SNV				1										PASS		.	.												A	4	1	77	32519526	32519526	C	A	1	0	0	0	0	0	1	0	0	7099	864	30	2		2	HLA-DRB5	6	32519526	Nonsense_Mutation	SNP	C	C3N-01414_TP	299869	32519526	138286453	193	24899											
HLA-DRB1	0	.	GRCh38	chr6	32581713	32581713	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccatcccagccttctcttCctggccgttcaggaaccacc	7	9	6	19	1	2	0	1	0	1	0	5	1	4	1	7	2	2	1	7	2	1	3			C3N-01414_TP	C3N-01414_NB	C	C																c.496G>T	p.Glu166Ter	p.E166*	ENST00000360004	3/6	381	360	21	738	738	0	varscan-mutect	HLA-DRB1,stop_gained,p.Glu166Ter,ENST00000360004,NM_002124.3;HLA-DRB1,stop_gained,p.Glu166Ter,ENST00000611060,;	A	ENST00000360004	Transcript	stop_gained	602/1229	496/801	166/266	E/*	Gaa/Taa	COSM3625459	1		-1	HLA-DRB1	HGNC	HGNC:4948	protein_coding	YES	CCDS47409.1	ENSP00000353099	P04229,Q9GIY3,P01911,Q29974	D7RIH8,X5DNQ0	UPI000008A1F7	NM_002124.3			3/6		PROSITE_profiles:PS50835,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF57,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726											1						HIGH	1	SNV			1	1										PASS		rs1335525050	.												A	4	1	77	32581713	32581713	C	A	1	0	0	0	0	0	1	0	0	7098	864	30	2		2	HLA-DRB1	6	32581713	Nonsense_Mutation	SNP	C	C3N-01414_TP	62187	32581713	138224266	194	24900											
DAXX	0	.	GRCh38	chr6	33320987	33320987	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgttaacctctgggtagCgggtgccacggtaggggatg	6	9	17	9	2	1	0	0	0	1	0	1	1	1	1	3	5	3	3	3	5	3	3			C3N-01414_TP	C3N-01414_NB	C	C																c.788G>T	p.Arg263Leu	p.R263L	ENST00000374542	3/8	181	165	16	311	311	0	strelka-varscan-mutect	DAXX,missense_variant,p.Arg263Leu,ENST00000374542,NM_001141969.1,NM_001141970.1,NM_001350.4;DAXX,missense_variant,p.Arg263Leu,ENST00000266000,;DAXX,missense_variant,p.Arg263Leu,ENST00000620164,;DAXX,missense_variant,p.Arg188Leu,ENST00000414083,NM_001254717.1;ZBTB22,upstream_gene_variant,,ENST00000431845,NM_005453.4;ZBTB22,upstream_gene_variant,,ENST00000418724,NM_001145338.1;DAXX,downstream_gene_variant,,ENST00000453407,;DAXX,downstream_gene_variant,,ENST00000446403,;ZBTB22,upstream_gene_variant,,ENST00000441117,;DAXX,downstream_gene_variant,,ENST00000446511,;DAXX,non_coding_transcript_exon_variant,,ENST00000477370,;DAXX,intron_variant,,ENST00000477162,;DAXX,intron_variant,,ENST00000468536,;DAXX,downstream_gene_variant,,ENST00000494082,;DAXX,upstream_gene_variant,,ENST00000490173,;DAXX,downstream_gene_variant,,ENST00000498030,;	A	ENST00000374542	Transcript	missense_variant	993/2613	788/2223	263/740	R/L	cGc/cTc	COSM3349815	1		-1	DAXX	HGNC	HGNC:2681	protein_coding	YES	CCDS4776.1	ENSP00000363668	Q9UER7	A0A024RCS3	UPI0000128ED8	NM_001141969.1,NM_001141970.1,NM_001350.4	deleterious(0)		3/8		hmmpanther:PTHR12766											1						MODERATE	1	SNV	1		1	1										PASS		rs1429735040	.												A	3	1	77	33320987	33320987	C	A	1	0	0	0	0	1	0	0	0	4044	768	27	1		1	DAXX	6	33320987	Missense_Mutation	SNP	C	C3N-01414_TP	739274	33320987	137484992	195	24901											
RCAN2	0	.	GRCh38	chr6	46456779	46456779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccttcaaacactgaCtggtgaacattgcacgcaaa	12	11	6	12	1	3	2	1	2	2	0	4	2	3	2	1	1	3	2	1	1	3	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.198G>T	p.Gln66His	p.Q66H	ENST00000371374	2/5	179	155	24	296	294	2	strelka-varscan-mutect	RCAN2,missense_variant,p.Gln66His,ENST00000371374,NM_001251974.1;RCAN2,missense_variant,p.Gln66His,ENST00000306764,NM_001251973.1;	A	ENST00000371374	Transcript	missense_variant	390/3327	198/732	66/243	Q/H	caG/caT		1		-1	RCAN2	HGNC	HGNC:3041	protein_coding	YES	CCDS59023.1	ENSP00000360425	Q14206		UPI00001AEE48	NM_001251974.1	tolerated(0.1)		2/5		hmmpanther:PTHR10300,hmmpanther:PTHR10300:SF5,Gene3D:3.30.70.330,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		rs1040677659	.												A	3	1	77	46456779	46456779	C	A	1	0	0	0	0	1	0	0	0	13338	564	20	2		2	RCAN2	6	46456779	Missense_Mutation	SNP	C	C3N-01414_TP	13135792	46456779	124349200	196	24902											
FAM83B	0	.	GRCh38	chr6	54940318	54940318	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttttgccaatcggcttgcGcagagaaaaacaacaaatct	15	9	8	9	2	1	1	0	0	1	1	2	2	1	1	1	1	4	3	1	1	5	3	rs141100648		C3N-01414_TP	C3N-01414_NB	G	G																c.1347G>T	p.=	p.A449A	ENST00000306858	5/5	268	203	65	441	441	0	strelka-varscan-mutect	FAM83B,synonymous_variant,p.=,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;	T	ENST00000306858	Transcript	synonymous_variant	1463/3167	1347/3036	449/1011	A	gcG/gcT	rs141100648,COSM1445234	1		1	FAM83B	HGNC	HGNC:21357	protein_coding	YES	CCDS34479.1	ENSP00000304078	Q5T0W9		UPI00001D81EC	NM_001010872.2			5/5		hmmpanther:PTHR16181:SF4,hmmpanther:PTHR16181											0,1						LOW	1	SNV	1		0,1	1										PASS		rs141100648	.												T	2	4	77	54940318	54940318	G	T	1	0	0	0	0	0	0	0	1	5492	1074	38	1		1	FAM83B	6	54940318	Silent	SNP	G	C3N-01414_TP	8483539	54940318	115865661	197	24903											
KHDRBS2	0	.	GRCh38	chr6	61901308	61901308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctctgccacgaccagagtCctctgagccatttaagtaag	11	9	8	13	1	2	2	0	1	2	1	3	3	3	2	5	0	2	1	5	0	2	3	rs757121906		C3N-01414_TP	C3N-01414_NB	C	C																c.547G>T	p.Asp183Tyr	p.D183Y	ENST00000281156	5/9	183	144	39	321	320	1	strelka-varscan-mutect	KHDRBS2,missense_variant,p.Asp183Tyr,ENST00000281156,NM_152688.2;	A	ENST00000281156	Transcript	missense_variant	826/2332	547/1050	183/349	D/Y	Gac/Tac	rs757121906	1		-1	KHDRBS2	HGNC	HGNC:18114	protein_coding	YES	CCDS4963.1	ENSP00000281156	Q5VWX1		UPI000004D256	NM_152688.2	deleterious(0)		5/9		hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF34																	MODERATE	1	SNV	1			1										PASS		rs757121906	.												A	3	1	77	61901308	61901308	C	A	1	0	0	0	0	1	0	0	0	8068	855	30	2		2	KHDRBS2	6	61901308	Missense_Mutation	SNP	C	C3N-01414_TP	6960990	61901308	108904671	198	24904											
EYS	0	.	GRCh38	chr6	64591429	64591429	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatctccagtgctctcttcTtgaaattaaagaatcagctg	12	13	6	10	0	4	2	1	1	3	1	6	2	4	2	1	0	2	2	1	0	5	3	rs753332937		C3N-01414_TP	C3N-01414_NB	T	T																c.4438A>C	p.=	p.R1480R	ENST00000370621	26/44	306	208	98	554	553	1	strelka-varscan-mutect	EYS,synonymous_variant,p.=,ENST00000503581,NM_001142800.1;EYS,synonymous_variant,p.=,ENST00000370621,NM_001292009.1;EYS,downstream_gene_variant,,ENST00000330816,;	G	ENST00000370621	Transcript	synonymous_variant	4965/10485	4438/9498	1480/3165	R	Aga/Cga	rs753332937	1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1			26/44																			LOW	1	SNV	1			1										PASS		rs753332937	.												G	2	3	77	64591429	64591429	T	G	1	0	0	0	0	0	0	0	1	5200	1617	56	5		5	EYS	6	64591429	Silent	SNP	T	C3N-01414_TP	2690121	64591429	106214550	199	24905											
IMPG1	0	.	GRCh38	chr6	75950742	75950742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagacaggagtggtatcCtccaagaaatgatctgggac	12	8	13	8	0	1	3	0	2	1	2	3	6	3	5	2	3	0	2	2	3	3	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1644G>T	p.Glu548Asp	p.E548D	ENST00000369950	13/17	200	141	59	355	355	0	strelka-varscan-mutect	IMPG1,missense_variant,p.Glu548Asp,ENST00000369950,NM_001563.3;IMPG1,missense_variant,p.Glu470Asp,ENST00000611179,NM_001282368.1;	A	ENST00000369950	Transcript	missense_variant	1834/3558	1644/2394	548/797	E/D	gaG/gaT		1		-1	IMPG1	HGNC	HGNC:6055	protein_coding	YES	CCDS4985.1	ENSP00000358966	Q17R60		UPI0000073F12	NM_001563.3	tolerated(0.1)		13/17		hmmpanther:PTHR12199																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	75950742	75950742	C	A	1	0	0	0	0	1	0	0	0	7630	680	24	2		2	IMPG1	6	75950742	Missense_Mutation	SNP	C	C3N-01414_TP	11359313	75950742	94855237	200	24906											
BACH2	0	.	GRCh38	chr6	89938209	89938209	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttttgcggcagcgctgggCcgcgatgcggttcttgctgc	2	11	15	13	5	1	0	0	0	1	0	1	1	1	0	2	3	5	4	2	3	0	4			C3N-01414_TP	C3N-01414_NB	C	C																c.1978G>T	p.Ala660Ser	p.A660S	ENST00000257749	8/9	199	152	47	329	328	1	strelka-varscan-mutect	BACH2,missense_variant,p.Ala660Ser,ENST00000257749,NM_021813.3;BACH2,missense_variant,p.Ala660Ser,ENST00000537989,NM_001170794.1;BACH2,missense_variant,p.Ala660Ser,ENST00000343122,;	A	ENST00000257749	Transcript	missense_variant	2686/9113	1978/2526	660/841	A/S	Gcc/Tcc	COSM5266450,COSM5266451	1		-1	BACH2	HGNC	HGNC:14078	protein_coding	YES	CCDS5026.1	ENSP00000257749	Q9BYV9		UPI000004F8AD	NM_021813.3	deleterious(0.01)		8/9		Gene3D:1.10.880.10,Pfam_domain:PF03131,PROSITE_patterns:PS00036,PROSITE_profiles:PS50217,SMART_domains:SM00338,Superfamily_domains:SSF47454,Superfamily_domains:SSF57959											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	77	89938209	89938209	C	A	1	0	0	0	0	1	0	0	0	1442	739	26	2		2	BACH2	6	89938209	Missense_Mutation	SNP	C	C3N-01414_TP	13987467	89938209	80867770	201	24907											
GPR63	0	.	GRCh38	chr6	96798550	96798550	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgtgaccagggagctgCggcaaaaacttgaaggactt	11	10	13	7	1	0	2	0	2	0	0	0	4	0	4	1	3	3	2	1	3	3	3	rs377037155		C3N-01414_TP	C3N-01414_NB	C	C																c.1182G>C	p.=	p.P394P	ENST00000229955	2/2	223	189	34	341	341	0	strelka-varscan-mutect	GPR63,synonymous_variant,p.=,ENST00000229955,NM_030784.3,NM_001143957.2;RP3-417O22.3,downstream_gene_variant,,ENST00000442184,;	G	ENST00000229955	Transcript	synonymous_variant	1528/5952	1182/1260	394/419	P	ccG/ccC	rs377037155	1		-1	GPR63	HGNC	HGNC:13302	protein_coding	YES	CCDS5036.1	ENSP00000229955	Q9BZJ6	A8K1C4	UPI0000037594	NM_030784.3,NM_001143957.2			2/2		hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF1,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		rs377037155	.												G	2	3	77	96798550	96798550	C	G	1	0	0	0	0	0	0	0	1	6588	755	27	4		4	GPR63	6	96798550	Silent	SNP	C	C3N-01414_TP	6860341	96798550	74007429	202	24908											
VGLL2	0	.	GRCh38	chr6	117268408	117268408	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtggtggatgaacattTcagcagggccctgagccaac	9	8	12	12	1	1	2	1	2	0	0	2	3	2	3	3	3	4	1	3	3	2	1	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.308T>C	p.Phe103Ser	p.F103S	ENST00000326274	2/4	212	193	19	330	330	0	strelka-varscan-mutect	VGLL2,missense_variant,p.Phe103Ser,ENST00000326274,NM_182645.3;VGLL2,missense_variant,p.Phe103Ser,ENST00000352536,NM_153453.1;	C	ENST00000326274	Transcript	missense_variant	498/2212	308/954	103/317	F/S	tTc/tCc		1		1	VGLL2	HGNC	HGNC:20232	protein_coding	YES	CCDS5115.1	ENSP00000320957	Q8N8G2		UPI000006FF57	NM_182645.3	deleterious(0)		2/4		hmmpanther:PTHR15950,hmmpanther:PTHR15950:SF17,Pfam_domain:PF07545																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	117268408	117268408	T	C	1	0	0	0	0	1	0	0	0	17705	1783	62	5		5	VGLL2	6	117268408	Missense_Mutation	SNP	T	C3N-01414_TP	20469858	117268408	53537571	203	24909											
EYA4	0	.	GRCh38	chr6	133462679	133462679	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggactttcccaaactcagtcCccattacagagtggctgcct	9	10	8	14	0	1	1	1	0	0	1	3	2	3	2	4	2	3	1	4	2	2	2			C3N-01414_TP	C3N-01414_NB	C	C																c.639C>A	p.=	p.S213S	ENST00000531901	9/20	244	212	32	347	347	0	strelka-varscan-mutect	EYA4,synonymous_variant,p.=,ENST00000367895,NM_004100.4;EYA4,synonymous_variant,p.=,ENST00000355167,NM_172105.3;EYA4,synonymous_variant,p.=,ENST00000355286,NM_172103.3;EYA4,synonymous_variant,p.=,ENST00000525849,;EYA4,synonymous_variant,p.=,ENST00000531901,NM_001301013.1;EYA4,synonymous_variant,p.=,ENST00000452339,NM_001301012.1;EYA4,synonymous_variant,p.=,ENST00000430974,;EYA4,synonymous_variant,p.=,ENST00000431403,;EYA4,non_coding_transcript_exon_variant,,ENST00000531861,;EYA4,non_coding_transcript_exon_variant,,ENST00000421413,;EYA4,upstream_gene_variant,,ENST00000532518,;EYA4,downstream_gene_variant,,ENST00000525614,;EYA4,non_coding_transcript_exon_variant,,ENST00000497350,;	A	ENST00000531901	Transcript	synonymous_variant	868/2892	639/1938	213/645	S	tcC/tcA	COSM4404265,COSM4404266	1		1	EYA4	HGNC	HGNC:3522	protein_coding	YES	CCDS75521.1	ENSP00000432770		F2Z2Y1	UPI0001AE72E3	NM_001301013.1			9/20		hmmpanther:PTHR10190:SF17,hmmpanther:PTHR10190											1,1						LOW	1	SNV	2		1,1	1										PASS		.	.												A	2	1	77	133462679	133462679	C	A	1	0	0	0	0	0	0	0	1	5199	610	22	2		2	EYA4	6	133462679	Silent	SNP	C	C3N-01414_TP	16194271	133462679	37343300	204	24910											
MYCT1	0	.	GRCh38	chr6	152697952	152697952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaaattatttttctcttgCtgtactacaaagagatagaa	16	15	5	5	0	1	2	0	0	1	2	2	3	1	2	0	0	3	2	0	0	9	8	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.50C>A	p.Ala17Asp	p.A17D	ENST00000367245	1/2	181	165	16	293	292	1	strelka-varscan-mutect	MYCT1,missense_variant,p.Ala17Asp,ENST00000367245,NM_025107.2;MYCT1,missense_variant,p.Ala17Asp,ENST00000529453,;MYCT1,upstream_gene_variant,,ENST00000532295,;	A	ENST00000367245	Transcript	missense_variant	58/3030	50/708	17/235	A/D	gCt/gAt		1		1	MYCT1	HGNC	HGNC:23172	protein_coding	YES	CCDS5239.1	ENSP00000356214	Q8N699		UPI0000073EDB	NM_025107.2	deleterious_low_confidence(0.01)		1/2																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	152697952	152697952	C	A	1	0	0	0	0	1	0	0	0	10022	797	28	2		2	MYCT1	6	152697952	Missense_Mutation	SNP	C	C3N-01414_TP	19235273	152697952	18108027	205	24911											
UNC93A	0	.	GRCh38	chr6	167296244	167296244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatctcatcgctggtatttgGccagactcccagccaaggta	9	10	10	12	1	1	1	1	0	1	1	4	2	2	1	3	3	1	3	3	3	3	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.482G>T	p.Gly161Val	p.G161V	ENST00000230256	3/8	194	176	18	285	285	0	strelka-varscan-mutect	UNC93A,missense_variant,p.Gly161Val,ENST00000230256,NM_018974.3;UNC93A,missense_variant,p.Gly161Val,ENST00000366829,NM_001143947.1;UNC93A,downstream_gene_variant,,ENST00000503433,;UNC93A,downstream_gene_variant,,ENST00000366830,;UNC93A,non_coding_transcript_exon_variant,,ENST00000504706,;	T	ENST00000230256	Transcript	missense_variant	657/2116	482/1374	161/457	G/V	gGc/gTc		1		1	UNC93A	HGNC	HGNC:12570	protein_coding	YES	CCDS5300.1	ENSP00000230256	Q86WB7		UPI0000062351	NM_018974.3	deleterious(0)		3/8		Gene3D:1.20.1250.20,Pfam_domain:PF05978,hmmpanther:PTHR19444,hmmpanther:PTHR19444:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	167296244	167296244	G	T	1	0	0	0	0	1	0	0	0	17522	1203	42	2		2	UNC93A	6	167296244	Missense_Mutation	SNP	G	C3N-01414_TP	14598292	167296244	3509735	206	24912											
MLLT4	0	.	GRCh38	chr6	167870491	167870491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgagaatgacgccattcCtcctaaggtaggaaccctca	13	8	9	11	1	1	2	1	2	0	1	3	5	3	3	4	2	1	1	4	2	5	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.284C>T	p.Pro95Leu	p.P95L	ENST00000366806	3/33	116	72	44	185	185	0	strelka-varscan-mutect	MLLT4,missense_variant,p.Pro136Leu,ENST00000400822,;MLLT4,missense_variant,p.Pro136Leu,ENST00000392112,NM_001207008.1;MLLT4,missense_variant,p.Pro136Leu,ENST00000392108,NM_001040000.2;MLLT4,missense_variant,p.Pro95Leu,ENST00000366806,NM_001291964.1;MLLT4,missense_variant,p.Pro136Leu,ENST00000351017,;MLLT4,missense_variant,p.Pro136Leu,ENST00000447894,;MLLT4,missense_variant,p.Pro136Leu,ENST00000344191,;MLLT4,missense_variant,p.Pro137Leu,ENST00000400825,;MLLT4,missense_variant,p.Pro137Leu,ENST00000400824,;MLLT4,non_coding_transcript_exon_variant,,ENST00000366809,;	T	ENST00000366806	Transcript	missense_variant	603/5962	284/5346	95/1781	P/L	cCt/cTt		1		1	MLLT4	HGNC	HGNC:7137	protein_coding	YES	CCDS78199.1	ENSP00000355771		A8MQ02	UPI00045D52FC	NM_001291964.1	tolerated(0.22)		3/33		hmmpanther:PTHR10398,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		rs1180121039	.												T	3	4	77	167870491	167870491	C	T	1	0	0	0	0	1	0	0	0	9592	681	24	3		3	MLLT4	6	167870491	Missense_Mutation	SNP	C	C3N-01414_TP	574247	167870491	2935488	207	24913											
THBS2	0	.	GRCh38	chr6	169228255	169228255	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcatagtcagcctggcgGggattgaagaggagctggca	9	9	16	7	1	2	2	2	1	0	1	2	4	2	4	1	5	2	2	1	5	2	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.2286C>T	p.=	p.P762P	ENST00000366787	16/23	171	155	16	251	250	1	strelka-varscan-mutect	THBS2,synonymous_variant,p.=,ENST00000366787,NM_003247.3;THBS2,synonymous_variant,p.=,ENST00000617924,;XXyac-YX65C7_A.2,intron_variant,,ENST00000444188,;THBS2,upstream_gene_variant,,ENST00000488355,;	A	ENST00000366787	Transcript	synonymous_variant	2536/5811	2286/3519	762/1172	P	ccC/ccT		1		-1	THBS2	HGNC	HGNC:11786	protein_coding	YES	CCDS34574.1	ENSP00000355751	P35442		UPI0000231C7F	NM_003247.3			16/23		PROSITE_profiles:PS51234,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF10,Gene3D:1ux6A01,Pfam_domain:PF02412,Superfamily_domains:0044556																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	169228255	169228255	G	A	1	0	0	0	0	0	0	0	1	16287	1219	43	3		3	THBS2	6	169228255	Silent	SNP	G	C3N-01414_TP	1357764	169228255	1577724	208	24914											
PRKAR1B	0	.	GRCh38	chr7	579356	579356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcatccgccacggtcagaCgctcccacttctccagggac	7	6	10	18	4	2	1	1	0	1	1	5	2	4	2	4	2	0	2	4	2	0	1	rs369460111		C3N-01414_TP	C3N-01414_NB	C	C																c.791G>T	p.Arg264Leu	p.R264L	ENST00000406797	9/11	250	180	70	448	448	0	strelka-varscan-mutect	PRKAR1B,missense_variant,p.Arg264Leu,ENST00000406797,NM_001164761.1;PRKAR1B,missense_variant,p.Arg264Leu,ENST00000537384,NM_001164760.1;PRKAR1B,missense_variant,p.Arg264Leu,ENST00000544935,NM_001164759.1,NM_001164762.1;PRKAR1B,missense_variant,p.Arg264Leu,ENST00000360274,NM_002735.2;PRKAR1B,missense_variant,p.Arg264Leu,ENST00000403562,NM_001164758.1;PRKAR1B,missense_variant,p.Arg264Leu,ENST00000430040,;PRKAR1B,missense_variant,p.Arg125Leu,ENST00000400758,;	A	ENST00000406797	Transcript	missense_variant	966/2553	791/1146	264/381	R/L	cGt/cTt	rs369460111	1		-1	PRKAR1B	HGNC	HGNC:9390	protein_coding	YES	CCDS34579.1	ENSP00000385749	P31321		UPI000021C478	NM_001164761.1	deleterious(0.02)		9/11		Gene3D:2.60.120.10,PIRSF_domain:PIRSF000548,PROSITE_profiles:PS50042,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF126,SMART_domains:SM00100,Superfamily_domains:SSF51206																	MODERATE	1	SNV	1			1										PASS		rs369460111	.												A	3	1	77	579356	579356	C	A	1	0	0	0	0	1	0	0	0	12637	536	19	1		1	PRKAR1B	7	579356	Missense_Mutation	SNP	C	C3N-01414_TP		579356	158766617	209	24915											
PMS2	0	.	GRCh38	chr7	5987084	5987084	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaggcaaaactcgaaattTacatccggtatcttcctggt	11	12	8	10	2	1	1	0	1	1	0	4	2	3	1	2	3	2	2	2	3	5	4	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.1681A>C	p.Lys561Gln	p.K561Q	ENST00000265849	11/15	325	292	33	467	467	0	varscan-mutect	PMS2,missense_variant,p.Lys561Gln,ENST00000265849,NM_000535.5;PMS2,missense_variant,p.Lys455Gln,ENST00000441476,;PMS2,intron_variant,,ENST00000382321,;PMS2,splice_region_variant,,ENST00000406569,;PMS2,intron_variant,,ENST00000469652,;	G	ENST00000265849	Transcript	missense_variant	1787/2855	1681/2589	561/862	K/Q	Aaa/Caa		1		-1	PMS2	HGNC	HGNC:9122	protein_coding	YES	CCDS5343.1	ENSP00000265849	P54278		UPI000013D696	NM_000535.5	tolerated(0.26)		11/15		hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF39																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	77	5987084	5987084	T	G	1	0	0	0	0	1	0	0	0	12250	1763	61	5		5	PMS2	7	5987084	Missense_Mutation	SNP	T	C3N-01414_TP	5407728	5987084	153358889	210	24916											
FAM221A	0	.	GRCh38	chr7	23689426	23689426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaacactttgctgatcagCacagtgctgcgcctggcttt	8	11	10	12	1	1	1	1	1	0	0	1	1	1	1	1	1	5	5	1	1	1	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.397C>A	p.His133Asn	p.H133N	ENST00000344962	3/7	43	37	6	72	72	0	strelka-mutect	FAM221A,missense_variant,p.His133Asn,ENST00000344962,NM_199136.4;FAM221A,missense_variant,p.His75Asn,ENST00000409994,NM_001127365.2;FAM221A,missense_variant,p.His133Asn,ENST00000409192,NM_001127364.2;FAM221A,missense_variant,p.His75Asn,ENST00000409653,NM_001300932.1;FAM221A,3_prime_UTR_variant,,ENST00000429719,;FAM221A,3_prime_UTR_variant,,ENST00000446234,;FAM221A,non_coding_transcript_exon_variant,,ENST00000462546,;	A	ENST00000344962	Transcript	missense_variant	486/1472	397/897	133/298	H/N	Cac/Aac		1		1	FAM221A	HGNC	HGNC:27977	protein_coding	YES	CCDS5385.1	ENSP00000342576	A4D161		UPI0000199810	NM_199136.4	deleterious(0)		3/7		hmmpanther:PTHR31214,Pfam_domain:PF14753																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	23689426	23689426	C	A	1	0	0	0	0	1	0	0	0	5414	710	25	2		2	FAM221A	7	23689426	Missense_Mutation	SNP	C	C3N-01414_TP	17702342	23689426	135656547	211	24917											
CAMK2B	0	.	GRCh38	chr7	44229428	44229428	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggagccggagatgggcaGggcaggggcccctcggcttc	7	4	19	11	2	0	1	0	0	0	1	2	3	0	2	3	7	1	3	3	7	1	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1299C>A	p.=	p.P433P	ENST00000395749	18/24	30	25	5	47	47	0	strelka-varscan-mutect	CAMK2B,synonymous_variant,p.=,ENST00000395749,NM_001220.4;CAMK2B,intron_variant,,ENST00000457475,NM_172079.2;CAMK2B,intron_variant,,ENST00000350811,NM_001293170.1;CAMK2B,intron_variant,,ENST00000440254,NM_172078.2;CAMK2B,intron_variant,,ENST00000358707,NM_172081.2;CAMK2B,intron_variant,,ENST00000258682,NM_172080.2;CAMK2B,intron_variant,,ENST00000353625,NM_172083.2;CAMK2B,intron_variant,,ENST00000347193,NM_172082.2;CAMK2B,intron_variant,,ENST00000395747,;CAMK2B,intron_variant,,ENST00000346990,NM_172084.2;CAMK2B,intron_variant,,ENST00000433930,;CAMK2B,upstream_gene_variant,,ENST00000425809,;CAMK2B,non_coding_transcript_exon_variant,,ENST00000489429,;CAMK2B,intron_variant,,ENST00000497584,;CAMK2B,intron_variant,,ENST00000523845,;CAMK2B,intron_variant,,ENST00000353185,;	T	ENST00000395749	Transcript	synonymous_variant	1376/4447	1299/2001	433/666	P	ccC/ccA		1		-1	CAMK2B	HGNC	HGNC:1461	protein_coding	YES	CCDS5483.1	ENSP00000379098	Q13554	A4D2J9	UPI0000164A3E	NM_001220.4			18/24		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1177912237	.												T	2	4	77	44229428	44229428	G	T	1	0	0	0	0	0	0	0	1	2291	987	35	2		2	CAMK2B	7	44229428	Silent	SNP	G	C3N-01414_TP	20540002	44229428	115116545	212	24918											
CCM2	0	.	GRCh38	chr7	45076052	45076052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcatggaccaggactcaGcatgatggacagtggatggg	11	6	16	8	0	1	1	1	1	0	0	1	5	1	5	1	5	2	3	1	5	0	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1393G>A	p.Ala465Thr	p.A465T	ENST00000381112	10/10	448	401	47	702	702	0	strelka-varscan-mutect	CCM2,missense_variant,p.Ala438Thr,ENST00000475551,;CCM2,missense_variant,p.Ala444Thr,ENST00000258781,NM_031443.3;CCM2,missense_variant,p.Ala465Thr,ENST00000381112,NM_001029835.2;CCM2,missense_variant,p.Ala386Thr,ENST00000541586,NM_001167934.1;CCM2,missense_variant,p.Ala353Thr,ENST00000544363,NM_001167935.1;CCM2,missense_variant,p.Ala347Thr,ENST00000474617,;NACAD,downstream_gene_variant,,ENST00000490531,NM_001146334.1;CCM2,downstream_gene_variant,,ENST00000480382,;CCM2,non_coding_transcript_exon_variant,,ENST00000461377,;CCM2,downstream_gene_variant,,ENST00000482714,;CCM2,downstream_gene_variant,,ENST00000478582,;CCM2,3_prime_UTR_variant,,ENST00000488727,;CCM2,non_coding_transcript_exon_variant,,ENST00000481194,;CCM2,non_coding_transcript_exon_variant,,ENST00000477605,;CCM2,downstream_gene_variant,,ENST00000480658,;CCM2,downstream_gene_variant,,ENST00000492883,;CCM2,downstream_gene_variant,,ENST00000470837,;NACAD,downstream_gene_variant,,ENST00000460409,;	A	ENST00000381112	Transcript	missense_variant	1464/1881	1393/1398	465/465	A/T	Gca/Aca		1		1	CCM2	HGNC	HGNC:21708	protein_coding	YES	CCDS34630.1	ENSP00000370503	Q9BSQ5		UPI0000563237	NM_001029835.2	deleterious_low_confidence(0)		10/10		hmmpanther:PTHR21642,hmmpanther:PTHR21642:SF4																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	77	45076052	45076052	G	A	1	0	0	0	0	1	0	0	0	2606	971	34	3		3	CCM2	7	45076052	Missense_Mutation	SNP	G	C3N-01414_TP	846624	45076052	114269921	213	24919											
DDC	0	.	GRCh38	chr7	50543911	50543911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgattatcttctcaacgtCgttgatgatgtcctcaaacg	10	14	7	10	3	3	3	2	3	2	0	6	3	4	3	1	0	2	1	1	0	3	3			C3N-01414_TP	C3N-01414_NB	C	C																c.175G>T	p.Asp59Tyr	p.D59Y	ENST00000444124	2/15	477	412	65	805	805	0	strelka-varscan-mutect	DDC,missense_variant,p.Asp59Tyr,ENST00000444124,NM_001082971.1;DDC,missense_variant,p.Asp59Tyr,ENST00000357936,NM_000790.3;DDC,missense_variant,p.Asp59Tyr,ENST00000622873,NM_001242886.1;DDC,missense_variant,p.Asp59Tyr,ENST00000617822,NM_001242887.1;DDC,missense_variant,p.Asp59Tyr,ENST00000426377,NM_001242888.1;DDC,missense_variant,p.Asp59Tyr,ENST00000615193,NM_001242889.1;DDC,missense_variant,p.Asp59Tyr,ENST00000431062,;DDC,missense_variant,p.Asp25Tyr,ENST00000430300,;DDC,missense_variant,p.Asp59Tyr,ENST00000380984,NM_001242890.1;FIGNL1,upstream_gene_variant,,ENST00000613602,;DDC,downstream_gene_variant,,ENST00000420203,;DDC-AS1,downstream_gene_variant,,ENST00000454521,;DDC,upstream_gene_variant,,ENST00000489162,;DDC,missense_variant,p.Asp59Tyr,ENST00000444733,;	A	ENST00000444124	Transcript	missense_variant	376/2041	175/1443	59/480	D/Y	Gac/Tac	COSM1090609,COSM1597046	1		-1	DDC	HGNC	HGNC:2719	protein_coding	YES	CCDS5511.1	ENSP00000403644	P20711	A0A0S2Z3N4	UPI000013F150	NM_001082971.1	deleterious(0)		2/15		Gene3D:3k40A01,Pfam_domain:PF00282,Prints_domain:PR00800,hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF70,Superfamily_domains:SSF53383											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs931702374	.												A	3	1	77	50543911	50543911	C	A	1	0	0	0	0	1	0	0	0	4128	884	31	1		1	DDC	7	50543911	Missense_Mutation	SNP	C	C3N-01414_TP	5467859	50543911	108802062	214	24920											
WBSCR17	0	.	GRCh38	chr7	71416043	71416043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcttctttgatgcccaCgtggaattcaccgctggctg	6	12	11	12	2	2	1	1	1	1	0	2	2	2	2	2	3	1	3	2	3	1	3	rs566090840		C3N-01414_TP	C3N-01414_NB	C	C																c.744C>A	p.His248Gln	p.H248Q	ENST00000333538	4/11	72	61	11	106	106	0	strelka-varscan-mutect	WBSCR17,missense_variant,p.His248Gln,ENST00000333538,NM_022479.2;WBSCR17,missense_variant,p.His169Gln,ENST00000618959,;WBSCR17,downstream_gene_variant,,ENST00000447516,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;	A	ENST00000333538	Transcript	missense_variant	1378/3884	744/1797	248/598	H/Q	caC/caA	rs566090840,COSM2151635	1		1	WBSCR17	HGNC	HGNC:16347	protein_coding	YES	CCDS5540.1	ENSP00000329654	Q6IS24	Q2L4S5	UPI00000502D5	NM_022479.2	deleterious(0)		4/11		Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Superfamily_domains:SSF53448											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs566090840	.												A	3	1	77	71416043	71416043	C	A	1	0	0	0	0	1	0	0	0	17823	535	19	1		1	WBSCR17	7	71416043	Missense_Mutation	SNP	C	C3N-01414_TP	20872132	71416043	87929930	215	24921											
WBSCR28	0	.	GRCh38	chr7	73865741	73865741	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctgcctttgagcacacGacccagctggccgaggccca	8	5	12	16	2	0	1	0	1	0	0	0	3	0	1	4	3	3	3	4	3	0	1	rs782021022		C3N-01414_TP	C3N-01414_NB	G	G																c.666G>T	p.=	p.T222T	ENST00000320531	3/3	372	272	100	431	431	0	strelka-varscan-mutect	WBSCR28,synonymous_variant,p.=,ENST00000320531,NM_182504.3;WBSCR28,3_prime_UTR_variant,,ENST00000426490,;	T	ENST00000320531	Transcript	synonymous_variant	702/854	666/798	222/265	T	acG/acT	rs782021022	1		1	WBSCR28	HGNC	HGNC:23018	protein_coding	YES	CCDS43597.1	ENSP00000316775	Q6UE05		UPI00001408E5	NM_182504.3			3/3		hmmpanther:PTHR37369,Pfam_domain:PF15164																	LOW	1	SNV	1			1										PASS		rs782021022	.												T	2	4	77	73865741	73865741	G	T	1	0	0	0	0	0	0	0	1	17826	1045	37	1		1	WBSCR28	7	73865741	Silent	SNP	G	C3N-01414_TP	2449698	73865741	85480232	216	24922											
KIAA1324L	0	.	GRCh38	chr7	86926826	86926826	+	Frame_Shift_Del	DEL	C	C	-																															agggttgcaaggcggacaatCcttcttctctccagaagggg																								novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1180delG	p.Asp394IlefsTer57	p.D394Ifs*57	ENST00000450689	9/22	136	110	26	174	174	0	sindel-varindel-pindel	KIAA1324L,frameshift_variant,p.Asp394IlefsTer57,ENST00000450689,NM_001142749.2;KIAA1324L,frameshift_variant,p.Asp394IlefsTer57,ENST00000444627,;KIAA1324L,frameshift_variant,p.Asp227IlefsTer57,ENST00000416314,NM_152748.3,NM_001291990.1;KIAA1324L,frameshift_variant,p.Asp355IlefsTer57,ENST00000423294,;KIAA1324L,3_prime_UTR_variant,,ENST00000394714,;	-	ENST00000450689	Transcript	frameshift_variant	1366/6841	1180/3090	394/1029	D/X	Gat/at		1		-1	KIAA1324L	HGNC	HGNC:21945	protein_coding	YES	CCDS47632.1	ENSP00000413445	A8MWY0		UPI000173AA00	NM_001142749.2			9/22		hmmpanther:PTHR22727:SF3,hmmpanther:PTHR22727,Gene3D:2.10.50.10,Superfamily_domains:SSF57184																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	77	86926826	86926826	C	-	1	0	1	0	1	0	0	0	0	8112	855	30	0		0	KIAA1324L	7	86926826	Frame_Shift_Del	DEL	C	C3N-01414_TP	13061085	86926826	72419147	217	24923											
C7orf62	0	.	GRCh38	chr7	88794249	88794249	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatgggtctattatacaTgtttataaatgttgccgggt	9	17	11	4	1	1	0	0	0	1	0	1	0	1	0	1	2	2	3	1	2	7	8	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.694A>T	p.Met232Leu	p.M232L	ENST00000297203	2/2	148	93	55	174	173	1	strelka-varscan-mutect	C7orf62,missense_variant,p.Met232Leu,ENST00000297203,NM_152706.3;ZNF804B,intron_variant,,ENST00000333190,NM_181646.3;	A	ENST00000297203	Transcript	missense_variant	880/1023	694/762	232/253	M/L	Atg/Ttg		1		-1	C7orf62	HGNC	HGNC:22402	protein_coding	YES	CCDS34678.1	ENSP00000297203	Q8TBZ9		UPI000005034C	NM_152706.3	tolerated(0.17)		2/2		hmmpanther:PTHR34035,hmmpanther:PTHR34035:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	88794249	88794249	T	A	1	0	0	0	0	1	0	0	0	2146	1464	51	4		4	C7orf62	7	88794249	Missense_Mutation	SNP	T	C3N-01414_TP	1867423	88794249	70551724	218	24924											
ZNF804B	0	.	GRCh38	chr7	89336085	89336085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtataattcacctagtaAcagagtctcagtcactaaac	16	10	6	9	0	3	1	3	0	1	1	4	1	3	1	1	1	2	2	1	1	7	6	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.3103A>G	p.Thr1035Ala	p.T1035A	ENST00000333190	4/4	200	175	25	242	242	0	strelka-varscan-mutect	ZNF804B,missense_variant,p.Thr1035Ala,ENST00000333190,NM_181646.3;ZNF804B,missense_variant,p.Thr952Ala,ENST00000611114,;	G	ENST00000333190	Transcript	missense_variant	3712/4659	3103/4050	1035/1349	T/A	Aca/Gca		1		1	ZNF804B	HGNC	HGNC:21958	protein_coding	YES	CCDS5613.1	ENSP00000329638	A4D1E1		UPI00001A92D2	NM_181646.3	tolerated(0.71)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	77	89336085	89336085	A	G	1	0	0	0	0	1	0	0	0	18756	43	2	5		5	ZNF804B	7	89336085	Missense_Mutation	SNP	A	C3N-01414_TP	541836	89336085	70009888	219	24925											
NPTX2	0	.	GRCh38	chr7	98619814	98619814	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccggcagaagaccgagAgcaccctgaacgcgctgctg	10	4	12	15	4	1	4	1	1	0	3	1	5	1	4	3	1	3	4	3	1	2	0	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.598A>T	p.Ser200Cys	p.S200C	ENST00000265634	2/5	270	218	52	335	335	0	strelka-varscan-mutect	NPTX2,missense_variant,p.Ser200Cys,ENST00000265634,NM_002523.2;NPTX2,non_coding_transcript_exon_variant,,ENST00000466102,;	T	ENST00000265634	Transcript	missense_variant	763/2700	598/1296	200/431	S/C	Agc/Tgc		1		1	NPTX2	HGNC	HGNC:7953	protein_coding	YES	CCDS5657.1	ENSP00000265634	P47972		UPI000013040F	NM_002523.2	deleterious(0)		2/5		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF1																	MODERATE	1	SNV	1			1										PASS		rs1273647531	.												T	3	4	77	98619814	98619814	A	T	1	0	0	0	0	1	0	0	0	10659	304	11	4		4	NPTX2	7	98619814	Missense_Mutation	SNP	A	C3N-01414_TP	9283729	98619814	60726159	220	24926											
MUC17	0	.	GRCh38	chr7	101034815	101034815	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaccagcatacctgtcacCacttctactgaagccagttc	11	9	6	15	0	2	1	1	1	1	0	3	2	2	1	4	0	4	2	4	0	3	4	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.3399C>G	p.=	p.T1133T	ENST00000306151	3/13	250	220	30	349	349	0	strelka-varscan-mutect	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,synonymous_variant,p.=,ENST00000379439,;	G	ENST00000306151	Transcript	synonymous_variant	3463/14247	3399/13482	1133/4493	T	acC/acG		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1			3/13		Low_complexity_(Seg):seg,hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	77	101034815	101034815	C	G	1	0	0	0	0	0	0	0	1	9973	581	21	4		4	MUC17	7	101034815	Silent	SNP	C	C3N-01414_TP	2415001	101034815	58311158	221	24927											
RELN	0	.	GRCh38	chr7	103661410	103661410	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctcaggttcccataaccGgtagtgtccatggatggagt	10	10	11	10	1	1	0	1	0	0	0	3	2	3	2	4	4	2	2	4	4	3	3	rs574149208		C3N-01414_TP	C3N-01414_NB	G	G																c.1407C>A	p.=	p.T469T	ENST00000428762	12/65	369	242	127	509	509	0	strelka-varscan-mutect	RELN,synonymous_variant,p.=,ENST00000424685,;RELN,synonymous_variant,p.=,ENST00000428762,NM_005045.3;RELN,synonymous_variant,p.=,ENST00000343529,NM_173054.2;	T	ENST00000428762	Transcript	synonymous_variant	1567/11571	1407/10383	469/3460	T	acC/acA	rs574149208	1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3			12/65		hmmpanther:PTHR11841																	LOW	1	SNV	5			1										PASS		rs574149208	.												T	2	4	77	103661410	103661410	G	T	1	0	0	0	0	0	0	0	1	13390	1103	39	1		1	RELN	7	103661410	Silent	SNP	G	C3N-01414_TP	2626595	103661410	55684563	222	24928											
LAMB4	0	.	GRCh38	chr7	108107813	108107813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactaacattgcagcaggccGaaaagtctaggaaaaatgag	18	6	10	7	1	1	1	0	1	1	0	1	3	1	2	1	2	4	2	1	2	7	3			C3N-01414_TP	C3N-01414_NB	G	G																c.409C>T	p.Arg137Trp	p.R137W	ENST00000388781	6/34	139	110	29	158	157	1	strelka-varscan-mutect	LAMB4,missense_variant,p.Arg137Trp,ENST00000388781,NM_007356.2;LAMB4,missense_variant,p.Arg137Trp,ENST00000205386,NM_001318046.1;LAMB4,missense_variant,p.Arg137Trp,ENST00000418464,NM_001318048.1;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;	A	ENST00000388781	Transcript	missense_variant	493/5858	409/5286	137/1761	R/W	Cgg/Tgg	COSM5406206,COSM5406207,COSM5406208	1		-1	LAMB4	HGNC	HGNC:6491	protein_coding	YES	CCDS34732.1	ENSP00000373433	A4D0S4		UPI0000198CD5	NM_007356.2	deleterious(0.03)		6/34		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF279,SMART_domains:SM00136											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs1445033819	.												A	3	1	77	108107813	108107813	G	A	1	0	0	0	0	1	0	0	0	8517	1057	37	1		1	LAMB4	7	108107813	Missense_Mutation	SNP	G	C3N-01414_TP	4446403	108107813	51238160	223	24929											
GRM8	0	.	GRCh38	chr7	126769883	126769883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accattaaaatttacagcccGaatataaccaagtagctctt	16	11	4	10	1	1	0	0	0	1	0	1	1	1	0	3	0	4	2	3	0	8	7	rs776267363		C3N-01414_TP	C3N-01414_NB	G	G																c.1339C>T	p.Arg447Trp	p.R447W	ENST00000339582	7/11	150	141	9	211	211	0	strelka-varscan-mutect	GRM8,missense_variant,p.Arg447Trp,ENST00000339582,NM_000845.2;GRM8,missense_variant,p.Arg447Trp,ENST00000358373,NM_001127323.1;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,downstream_gene_variant,,ENST00000448250,;GRM8,missense_variant,p.Arg447Trp,ENST00000472701,;GRM8,missense_variant,p.Arg447Trp,ENST00000341617,;	A	ENST00000339582	Transcript	missense_variant	2148/4057	1339/2727	447/908	R/W	Cgg/Tgg	rs776267363,COSM4831477,COSM4831478,COSM4831479	1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2	deleterious(0.01)		7/11		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Superfamily_domains:SSF53822											0,1,1,1						MODERATE	1	SNV	5		0,1,1,1	1										PASS		rs776267363	.												A	3	1	77	126769883	126769883	G	A	1	0	0	0	0	1	0	0	0	6685	1057	37	1		1	GRM8	7	126769883	Missense_Mutation	SNP	G	C3N-01414_TP	18662070	126769883	32576090	224	24930											
NRF1	0	.	GRCh38	chr7	129690514	129690514	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccgcctctcaccatcgacGgaattccagtctctgtggac	7	10	9	15	3	2	0	1	0	2	0	6	3	3	2	4	2	1	0	4	2	1	1	rs774042493		C3N-01414_TP	C3N-01414_NB	G	G																c.574G>T	p.Gly192Ter	p.G192*	ENST00000353868	5/12	189	114	75	228	226	2	strelka-varscan-mutect	NRF1,stop_gained,p.Gly192Ter,ENST00000353868,;NRF1,stop_gained,p.Gly192Ter,ENST00000393232,NM_005011.4,NM_001293164.1;NRF1,stop_gained,p.Gly192Ter,ENST00000393230,NM_001040110.1;NRF1,stop_gained,p.Gly192Ter,ENST00000311967,NM_001293163.1;NRF1,stop_gained,p.Gly192Ter,ENST00000223190,;NRF1,stop_gained,p.Gly192Ter,ENST00000454688,;	T	ENST00000353868	Transcript	stop_gained	674/3568	574/1569	192/522	G/*	Gga/Tga	rs774042493	1		1	NRF1	HGNC	HGNC:7996	protein_coding	YES	CCDS78273.1	ENSP00000342351	Q16656	A0A024R774	UPI0000072ED3				5/12		hmmpanther:PTHR20338,Pfam_domain:PF10491																	HIGH	1	SNV	5			1										PASS		rs774042493	.												T	4	4	77	129690514	129690514	G	T	1	0	0	0	0	0	1	0	0	10704	1117	39	1		1	NRF1	7	129690514	Nonsense_Mutation	SNP	G	C3N-01414_TP	2920631	129690514	29655459	225	24931											
PLXNA4	0	.	GRCh38	chr7	132507598	132507598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccgctccttaatgcGgtcatttatctgcttcaaga	8	13	8	12	2	3	1	2	0	1	1	4	1	4	1	2	1	4	3	2	1	3	4	rs748520326		C3N-01414_TP	C3N-01414_NB	G	G																c.1096C>A	p.Arg366Ser	p.R366S	ENST00000359827	2/32	277	198	79	355	354	1	strelka-varscan-mutect	PLXNA4,missense_variant,p.Arg366Ser,ENST00000359827,;PLXNA4,missense_variant,p.Arg366Ser,ENST00000321063,NM_020911.1;PLXNA4,missense_variant,p.Arg366Ser,ENST00000423507,NM_001105543.1;PLXNA4,missense_variant,p.Arg366Ser,ENST00000378539,NM_181775.3;	T	ENST00000359827	Transcript	missense_variant	2059/13786	1096/5685	366/1894	R/S	Cgc/Agc	rs748520326,COSM1733143,COSM1733144,COSM1733145,COSM1733146	1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B		deleterious(0.01)		2/32		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,SMART_domains:SM00630,Superfamily_domains:SSF101912											0,1,1,1,1						MODERATE	1	SNV	5		0,1,1,1,1	1										PASS		rs748520326	.												T	3	4	77	132507598	132507598	G	T	1	0	0	0	0	1	0	0	0	12228	1116	39	1		1	PLXNA4	7	132507598	Missense_Mutation	SNP	G	C3N-01414_TP	2817084	132507598	26838375	226	24932											
KDM7A	0	.	GRCh38	chr7	140097628	140097628	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctgagttctgatttcaCacgtgtaaaaaaccctgaaa	14	11	6	10	1	2	3	1	3	1	0	3	3	3	3	2	0	1	2	2	0	4	3			C3N-01414_TP	C3N-01414_NB	C	C																c.1933G>T	p.Val645Leu	p.V645L	ENST00000397560	15/20	125	107	18	168	168	0	strelka-varscan-mutect	KDM7A,missense_variant,p.Val645Leu,ENST00000397560,NM_030647.1;Y_RNA,upstream_gene_variant,,ENST00000515919,;KDM7A,missense_variant,p.Val240Leu,ENST00000472616,;	A	ENST00000397560	Transcript	missense_variant	2031/9272	1933/2826	645/941	V/L	Gtg/Ttg	COSM5662307	1		-1	KDM7A	HGNC	HGNC:22224	protein_coding	YES	CCDS43658.1	ENSP00000380692	Q6ZMT4		UPI000045761B	NM_030647.1	tolerated(0.11)		15/20		hmmpanther:PTHR23123:SF15,hmmpanther:PTHR23123											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	77	140097628	140097628	C	A	1	0	0	0	0	1	0	0	0	8057	478	17	2		2	KDM7A	7	140097628	Missense_Mutation	SNP	C	C3N-01414_TP	7590030	140097628	19248345	227	24933											
TCAF2	0	.	GRCh38	chr7	143703135	143703135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtgaatgacaagggccaGgtgctcattgctgcctcctc	8	10	12	11	0	1	2	1	2	0	0	3	2	2	2	3	3	3	2	3	3	2	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.141G>T	p.Gln47His	p.Q47H	ENST00000444908	2/7	90	75	15	100	99	1	varscan-mutect	TCAF2,missense_variant,p.Gln47His,ENST00000441159,;TCAF2,missense_variant,p.Gln47His,ENST00000444908,NM_001130025.1;TCAF2,missense_variant,p.Gln47His,ENST00000357344,NM_173678.2;RP11-298A10.1,intron_variant,,ENST00000636919,;RP11-298A10.1,intron_variant,,ENST00000636123,;TCAF2,intron_variant,,ENST00000518791,;	T	ENST00000444908	Transcript	missense_variant	226/2976	141/2538	47/845	Q/H	caG/caT		1		1	TCAF2	HGNC	HGNC:26878	protein_coding	YES	CCDS34769.1	ENSP00000412724	A6NFQ2		UPI00001AF3A8	NM_001130025.1	deleterious(0.01)		2/7		hmmpanther:PTHR15730,hmmpanther:PTHR15730:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	143703135	143703135	G	T	1	0	0	0	0	1	0	0	0	16071	991	35	2		2	TCAF2	7	143703135	Missense_Mutation	SNP	G	C3N-01414_TP	3605507	143703135	15642838	228	24934											
ATG9B	0	.	GRCh38	chr7	151023723	151023723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccaggttctggatgtgatgCcaggagcctgggcacagagg	8	8	16	9	0	1	2	0	1	1	1	2	4	2	4	3	5	2	2	3	5	0	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.558G>T	p.Trp186Cys	p.W186C	ENST00000605952	2/17	280	208	72	398	398	0	strelka-varscan-mutect	ATG9B,missense_variant,p.Trp186Cys,ENST00000469530,NM_173681.5;ABCB8,upstream_gene_variant,,ENST00000358849,NM_007188.4;ABCB8,upstream_gene_variant,,ENST00000542328,NM_001282293.1;ABCB8,upstream_gene_variant,,ENST00000297504,NM_001282291.1;ABCB8,upstream_gene_variant,,ENST00000498578,NM_001282292.1;ABCB8,upstream_gene_variant,,ENST00000477719,;ABCB8,upstream_gene_variant,,ENST00000477092,;ABCB8,upstream_gene_variant,,ENST00000461373,;ATG9B,non_coding_transcript_exon_variant,,ENST00000617967,;ATG9B,non_coding_transcript_exon_variant,,ENST00000473409,;ATG9B,non_coding_transcript_exon_variant,,ENST00000466157,;ATG9B,upstream_gene_variant,,ENST00000611177,;ABCB8,upstream_gene_variant,,ENST00000488370,;ABCB8,upstream_gene_variant,,ENST00000466956,;ABCB8,upstream_gene_variant,,ENST00000488826,;ABCB8,upstream_gene_variant,,ENST00000471796,;ABCB8,upstream_gene_variant,,ENST00000472698,;ABCB8,upstream_gene_variant,,ENST00000469410,;ATG9B,missense_variant,p.Trp186Cys,ENST00000605952,;ABCB8,upstream_gene_variant,,ENST00000466514,;ABCB8,upstream_gene_variant,,ENST00000482309,;ABCB8,upstream_gene_variant,,ENST00000470645,;ABCB8,upstream_gene_variant,,ENST00000489192,;ATG9B,upstream_gene_variant,,ENST00000473134,;ABCB8,upstream_gene_variant,,ENST00000462605,;ABCB8,upstream_gene_variant,,ENST00000488551,;	A	ENST00000605952	Transcript	missense_variant,NMD_transcript_variant	634/4572	558/2775	186/924	W/C	tgG/tgT		1		-1	ATG9B	HGNC	HGNC:21899	nonsense_mediated_decay	YES		ENSP00000475737	Q674R7		UPI00004286C0		deleterious(0)		2/17		hmmpanther:PTHR13038:SF14,hmmpanther:PTHR13038																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	151023723	151023723	C	A	1	0	0	0	0	1	0	0	0	1255	740	26	2		2	ATG9B	7	151023723	Missense_Mutation	SNP	C	C3N-01414_TP	7320588	151023723	8322250	229	24935											
VIPR2	0	.	GRCh38	chr7	159103813	159103813	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgacgaaatctgggaacgTctctgaccatccgtcactcg	10	9	9	13	5	3	1	1	1	2	0	7	4	4	2	2	1	1	0	2	1	2	0	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.301A>T	p.Thr101Ser	p.T101S	ENST00000262178	4/13	259	212	47	341	341	0	strelka-varscan-mutect	VIPR2,missense_variant,p.Thr101Ser,ENST00000262178,NM_003382.4,NM_001304522.1;VIPR2,missense_variant,p.Thr242Ser,ENST00000402066,;	A	ENST00000262178	Transcript	missense_variant	487/3944	301/1317	101/438	T/S	Acg/Tcg		1		-1	VIPR2	HGNC	HGNC:12695	protein_coding	YES	CCDS5950.1	ENSP00000262178	P41587	X5D7Q6	UPI0000055A9A	NM_003382.4,NM_001304522.1	tolerated(0.09)		4/13		Pfam_domain:PF02793,Prints_domain:PR00491,PROSITE_profiles:PS50227,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF27,SMART_domains:SM00008,Superfamily_domains:SSF111418																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	159103813	159103813	T	A	1	0	0	0	0	1	0	0	0	17717	1667	58	4		4	VIPR2	7	159103813	Missense_Mutation	SNP	T	C3N-01414_TP	8080090	159103813	242160	230	24936											
DLGAP2	0	.	GRCh38	chr8	1549314	1549314	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcgcaagccggagggCaagccccggcccggcatgag	10	1	17	13	4	0	1	0	1	0	0	0	3	0	3	4	5	3	3	4	5	3	0	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.621C>A	p.=	p.G207G	ENST00000612087	2/11	225	134	91	240	239	1	strelka-varscan-mutect	DLGAP2,synonymous_variant,p.=,ENST00000612087,NM_001277161.1;DLGAP2,synonymous_variant,p.=,ENST00000520901,;DLGAP2,synonymous_variant,p.=,ENST00000637795,;DLGAP2,synonymous_variant,p.=,ENST00000421627,;DLGAP2,synonymous_variant,p.=,ENST00000637152,NM_004745.4;	A	ENST00000612087	Transcript	synonymous_variant	755/10088	621/2886	207/961	G	ggC/ggA		1		1	DLGAP2	HGNC	HGNC:2906	protein_coding	YES	CCDS75689.1	ENSP00000484215		H0YBY6	UPI0002B8CE71	NM_001277161.1			2/11		Low_complexity_(Seg):seg,hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3																	LOW	1	SNV	5			1										PASS		rs973559824	.												A	2	1	77	1549314	1549314	C	A	1	0	0	0	0	0	0	0	1	4367	697	25	2		2	DLGAP2	8	1549314	Silent	SNP	C	C3N-01414_TP		1549314	143589322	231	24937											
ADRA1A	0	.	GRCh38	chr8	26864682	26864682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccagatgttgcagaagacCctgccgaaggcccagtagcc	10	5	12	14	1	0	3	0	0	0	3	0	4	0	3	5	1	3	3	5	1	3	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.288G>T	p.Arg96Ser	p.R96S	ENST00000380586	1/3	442	283	159	470	470	0	strelka-varscan-mutect	ADRA1A,missense_variant,p.Arg96Ser,ENST00000380573,;ADRA1A,missense_variant,p.Arg96Ser,ENST00000380586,NM_033303.3;ADRA1A,missense_variant,p.Arg96Ser,ENST00000276393,NM_000680.2;ADRA1A,missense_variant,p.Arg96Ser,ENST00000380582,NM_033302.2;ADRA1A,missense_variant,p.Arg96Ser,ENST00000519229,;ADRA1A,missense_variant,p.Arg96Ser,ENST00000354550,NM_033304.2;ADRA1A,missense_variant,p.Arg96Ser,ENST00000380572,;ADRA1A,missense_variant,p.Arg96Ser,ENST00000519096,;ADRA1A,missense_variant,p.Arg96Ser,ENST00000521711,;	A	ENST00000380586	Transcript	missense_variant	724/2304	288/1428	96/475	R/S	agG/agT		1		-1	ADRA1A	HGNC	HGNC:277	protein_coding	YES	CCDS34869.1	ENSP00000369960	P35348	B0ZBD3	UPI000066DA42	NM_033303.3	deleterious(0.01)		1/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF16,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	26864682	26864682	C	A	1	0	0	0	0	1	0	0	0	410	622	22	2		2	ADRA1A	8	26864682	Missense_Mutation	SNP	C	C3N-01414_TP	25315368	26864682	118273954	232	24938											
SNTG1	0	.	GRCh38	chr8	50658660	50658660	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagattatgtgcaagatcctCaaggtatgatcaatatgtag	14	12	10	5	0	2	3	2	1	0	2	3	4	3	3	1	1	1	3	1	1	7	4			C3N-01414_TP	C3N-01414_NB	C	C																c.1035C>G	p.=	p.L345L	ENST00000522124	15/19	214	104	110	169	169	0	strelka-varscan-mutect	SNTG1,synonymous_variant,p.=,ENST00000522124,NM_018967.3;SNTG1,synonymous_variant,p.=,ENST00000518864,NM_001287813.1;SNTG1,synonymous_variant,p.=,ENST00000517473,NM_001287814.1;SNTG1,synonymous_variant,p.=,ENST00000520825,;SNTG1,synonymous_variant,p.=,ENST00000524004,;	G	ENST00000522124	Transcript	synonymous_variant	1696/3504	1035/1554	345/517	L	ctC/ctG	COSM121915,COSM121916	1		1	SNTG1	HGNC	HGNC:13740	protein_coding	YES	CCDS6147.1	ENSP00000429842	Q9NSN8	A0A024R7Y0	UPI000004A0DD	NM_018967.3			15/19		Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF2,SMART_domains:SM00233,Superfamily_domains:SSF50729											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												G	2	3	77	50658660	50658660	C	G	1	0	0	0	0	0	0	0	1	15194	840	29	4		4	SNTG1	8	50658660	Silent	SNP	C	C3N-01414_TP	23793978	50658660	94479976	233	24939											
YTHDF3	0	.	GRCh38	chr8	63186397	63186397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatttaacttttttcctgGtaatgctgatttctctacat	8	20	6	7	0	1	1	0	1	1	0	3	2	2	2	1	2	3	2	1	2	3	8	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.395G>T	p.Gly132Val	p.G132V	ENST00000621413	5/6	259	206	53	306	304	2	strelka-varscan-mutect	YTHDF3,missense_variant,p.Gly78Val,ENST00000623280,NM_001277815.1,NM_001277817.1;YTHDF3,missense_variant,p.Gly129Val,ENST00000539294,NM_152758.5;YTHDF3,missense_variant,p.Gly78Val,ENST00000617200,NM_001277816.1;YTHDF3,missense_variant,p.Gly127Val,ENST00000621957,;YTHDF3,missense_variant,p.Gly132Val,ENST00000621413,NM_001277813.1;YTHDF3,missense_variant,p.Gly132Val,ENST00000621820,NM_001277814.1;YTHDF3,missense_variant,p.Gly78Val,ENST00000621890,NM_001277818.1;YTHDF3,missense_variant,p.Gly78Val,ENST00000612880,;YTHDF3,missense_variant,p.Gly78Val,ENST00000619337,;YTHDF3,intron_variant,,ENST00000517371,;YTHDF3,downstream_gene_variant,,ENST00000613853,;YTHDF3,downstream_gene_variant,,ENST00000617952,;YTHDF3,upstream_gene_variant,,ENST00000518373,;YTHDF3,3_prime_UTR_variant,,ENST00000615676,;	T	ENST00000621413	Transcript	missense_variant	749/2370	395/1767	132/588	G/V	gGt/gTt		1		1	YTHDF3	HGNC	HGNC:26465	protein_coding	YES	CCDS75748.1	ENSP00000478490		A0A087WY31	UPI0002D13FA3	NM_001277813.1	tolerated(0.08)		5/6		hmmpanther:PTHR12357,hmmpanther:PTHR12357:SF9																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	77	63186397	63186397	G	T	1	0	0	0	0	1	0	0	0	18061	1261	44	2		2	YTHDF3	8	63186397	Missense_Mutation	SNP	G	C3N-01414_TP	12527737	63186397	81952239	234	24940											
C8orf34	0	.	GRCh38	chr8	68533142	68533142	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgaagatgatgcaatggaAttgctgggtaattttaaaaa	17	12	10	2	0	0	3	0	2	0	1	0	4	0	4	0	2	2	3	0	2	8	4	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1098A>T	p.Glu366Asp	p.E366D	ENST00000518698	7/14	127	103	24	145	145	0	strelka-varscan-mutect	C8orf34,missense_variant,p.Glu255Asp,ENST00000337103,;C8orf34,missense_variant,p.Glu280Asp,ENST00000348340,NM_001195639.1;C8orf34,missense_variant,p.Glu366Asp,ENST00000518698,NM_052958.2;C8orf34,non_coding_transcript_exon_variant,,ENST00000518515,;C8orf34,3_prime_UTR_variant,,ENST00000521406,;	T	ENST00000518698	Transcript	missense_variant	1389/2223	1098/1617	366/538	E/D	gaA/gaT		1		1	C8orf34	HGNC	HGNC:30905	protein_coding	YES	CCDS6203.2	ENSP00000427820	Q49A92		UPI000021D12D	NM_052958.2	tolerated(0.06)		7/14		hmmpanther:PTHR32000,hmmpanther:PTHR32000:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	77	68533142	68533142	A	T	1	0	0	0	0	1	0	0	0	2155	98	4	4		4	C8orf34	8	68533142	Missense_Mutation	SNP	A	C3N-01414_TP	5346745	68533142	76605494	235	24941											
ZFHX4	0	.	GRCh38	chr8	76707767	76707767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagaggaatggagggcaGtaattggagatatctaccag	14	8	14	5	0	1	3	0	1	1	2	1	6	1	5	1	4	1	2	1	4	5	4	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.2812G>A	p.Val938Ile	p.V938I	ENST00000521891	3/11	388	309	79	329	329	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Val938Ile,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Val912Ile,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	A	ENST00000521891	Transcript	missense_variant	3260/14019	2812/10851	938/3616	V/I	Gta/Ata		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0.01)		3/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	77	76707767	76707767	G	A	1	0	0	0	0	1	0	0	0	18213	1029	36	3		3	ZFHX4	8	76707767	Missense_Mutation	SNP	G	C3N-01414_TP	8174625	76707767	68430869	236	24942											
ZFHX4	0	.	GRCh38	chr8	76853091	76853091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcccccccCacctcctccaccttctgctc	2	11	1	27	0	1	0	0	0	1	0	9	0	8	0	12	0	1	1	12	0	0	1	rs200704587		C3N-01414_TP	C3N-01414_NB	C	C																c.6170C>T	p.Pro2057Leu	p.P2057L	ENST00000521891	10/11	158	135	23	146	146	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Pro2057Leu,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Pro2031Leu,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;	T	ENST00000521891	Transcript	missense_variant	6618/14019	6170/10851	2057/3616	P/L	cCa/cTa	rs200704587	1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	tolerated_low_confidence(0.31)		10/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs200704587	.												T	3	4	77	76853091	76853091	C	T	1	0	0	0	0	1	0	0	0	18213	594	21	3		3	ZFHX4	8	76853091	Missense_Mutation	SNP	C	C3N-01414_TP	145324	76853091	68285545	237	24943											
RUNX1T1	0	.	GRCh38	chr8	91975956	91975956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagacgcaggcctgtgaaGgaattcccgatgcgcgtcta	9	8	12	12	4	1	2	0	1	1	1	3	4	3	3	3	2	1	1	3	2	3	2			C3N-01414_TP	C3N-01414_NB	G	G																c.1474C>A	p.Leu492Ile	p.L492I	ENST00000436581	10/12	229	193	36	270	270	0	strelka-varscan-mutect	RUNX1T1,missense_variant,p.Leu433Ile,ENST00000613302,NM_001198630.1,NM_001198627.1;RUNX1T1,missense_variant,p.Leu433Ile,ENST00000617740,NM_001198629.1,NM_001198626.1;RUNX1T1,missense_variant,p.Leu433Ile,ENST00000523629,NM_175634.2;RUNX1T1,missense_variant,p.Leu433Ile,ENST00000614812,NM_001198631.1;RUNX1T1,missense_variant,p.Leu492Ile,ENST00000436581,NM_001198679.1;RUNX1T1,missense_variant,p.Leu406Ile,ENST00000613886,NM_001198632.1;RUNX1T1,missense_variant,p.Leu413Ile,ENST00000615601,NM_001198633.1;RUNX1T1,missense_variant,p.Leu433Ile,ENST00000265814,NM_001198628.1;RUNX1T1,missense_variant,p.Leu406Ile,ENST00000396218,NM_004349.3;RUNX1T1,missense_variant,p.Leu406Ile,ENST00000518844,NM_001198625.1;RUNX1T1,missense_variant,p.Leu396Ile,ENST00000422361,NM_175636.2;RUNX1T1,missense_variant,p.Leu396Ile,ENST00000360348,NM_175635.2;RUNX1T1,missense_variant,p.Leu444Ile,ENST00000520724,NM_001198634.1;GS1-5L10.1,non_coding_transcript_exon_variant,,ENST00000522980,;RUNX1T1,3_prime_UTR_variant,,ENST00000520978,;RUNX1T1,3_prime_UTR_variant,,ENST00000521751,;RUNX1T1,upstream_gene_variant,,ENST00000521078,;	T	ENST00000436581	Transcript	missense_variant	1661/7454	1474/1992	492/663	L/I	Ctt/Att	COSM5597525,COSM5597526,COSM5597527,COSM606485,COSM606486,COSM606487	1		-1	RUNX1T1	HGNC	HGNC:1535	protein_coding	YES	CCDS75766.1	ENSP00000402257		A0A0A0MSU1	UPI0001E7B0BD	NM_001198679.1	tolerated(0.44)		10/12		hmmpanther:PTHR10379:SF5,hmmpanther:PTHR10379											1,1,1,1,1,1						MODERATE		SNV	5		1,1,1,1,1,1	1										PASS		.	.												T	3	4	77	91975956	91975956	G	T	1	0	0	0	0	1	0	0	0	14008	1000	35	2		2	RUNX1T1	8	91975956	Missense_Mutation	SNP	G	C3N-01414_TP	15122865	91975956	53162680	238	24944											
OSR2	0	.	GRCh38	chr8	98951663	98951663	+	Missense_Mutation	SNP	C	C	G																															ggcgaaactgtgatctgcggCggcacagcctgactcacacc																								novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1264C>G	p.Arg422Gly	p.R422G	ENST00000457907	5/5	255	226	29	186	186	0	strelka-varscan-mutect	OSR2,missense_variant,p.Arg422Gly,ENST00000457907,NM_001286841.1;OSR2,missense_variant,p.Arg301Gly,ENST00000297565,NM_001142462.2;OSR2,missense_variant,p.Arg301Gly,ENST00000522510,;OSR2,synonymous_variant,p.=,ENST00000435298,NM_053001.3;OSR2,downstream_gene_variant,,ENST00000523368,;OSR2,downstream_gene_variant,,ENST00000518199,;OSR2,downstream_gene_variant,,ENST00000520951,;OSR2,downstream_gene_variant,,ENST00000521044,;OSR2,downstream_gene_variant,,ENST00000520722,;	G	ENST00000457907	Transcript	missense_variant	1685/2126	1264/1302	422/433	R/G	Cgg/Ggg		1		1	OSR2	HGNC	HGNC:15830	protein_coding	YES	CCDS69520.1	ENSP00000414657	Q8N2R0		UPI00017A85FA	NM_001286841.1	deleterious_low_confidence(0.01)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR14196:SF4,hmmpanther:PTHR14196,PROSITE_patterns:PS00028,Pfam_domain:PF13894,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		rs1408210073	.												G	3	3	77	98951663	98951663	C	G	1	0	0	0	0	1	0	0	0	11361	759	27	4		4	OSR2	8	98951663	Missense_Mutation	SNP	C	C3N-01414_TP	6975707	98951663	46186973	239	24945	520	2									
OSR2	0	.	GRCh38	chr8	98951664	98951664	+	Missense_Mutation	SNP	G	G	T																															gcgaaactgtgatctgcggcGgcacagcctgactcacaccc																								rs553096279		C3N-01414_TP	C3N-01414_NB	G	G																c.1265G>T	p.Arg422Leu	p.R422L	ENST00000457907	5/5	249	220	29	181	181	0	strelka-varscan-mutect	OSR2,missense_variant,p.Arg422Leu,ENST00000457907,NM_001286841.1;OSR2,missense_variant,p.Arg301Leu,ENST00000297565,NM_001142462.2;OSR2,missense_variant,p.Gly274Cys,ENST00000435298,NM_053001.3;OSR2,missense_variant,p.Arg301Leu,ENST00000522510,;OSR2,downstream_gene_variant,,ENST00000523368,;OSR2,downstream_gene_variant,,ENST00000518199,;OSR2,downstream_gene_variant,,ENST00000520951,;OSR2,downstream_gene_variant,,ENST00000521044,;OSR2,downstream_gene_variant,,ENST00000520722,;	T	ENST00000457907	Transcript	missense_variant	1686/2126	1265/1302	422/433	R/L	cGg/cTg	rs553096279	1		1	OSR2	HGNC	HGNC:15830	protein_coding	YES	CCDS69520.1	ENSP00000414657	Q8N2R0		UPI00017A85FA	NM_001286841.1	deleterious_low_confidence(0.03)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR14196:SF4,hmmpanther:PTHR14196,PROSITE_patterns:PS00028,Pfam_domain:PF13894,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		rs553096279	.												T	3	4	77	98951664	98951664	G	T	1	0	0	0	0	1	0	0	0	11361	1116	39	1		1	OSR2	8	98951664	Missense_Mutation	SNP	G	C3N-01414_TP	1	98951664	46186972	240	24946	520	2									
RIMS2	0	.	GRCh38	chr8	103885835	103885835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcagcgatcttattcaatGgaaagaactcgagaggctca	15	9	9	8	2	4	2	3	0	1	2	5	5	4	3	0	2	2	1	0	2	5	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1236G>T	p.Met412Ile	p.M412I	ENST00000504942	4/24	304	153	151	297	297	0	strelka-varscan-mutect	RIMS2,missense_variant,p.Met220Ile,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Met190Ile,ENST00000436393,;RIMS2,missense_variant,p.Met412Ile,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Met354Ile,ENST00000626043,;RIMS2,missense_variant,p.Met220Ile,ENST00000408894,;RIMS2,missense_variant,p.Met220Ile,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Met416Ile,ENST00000632716,;RIMS2,missense_variant,p.Met220Ile,ENST00000515551,;	T	ENST00000504942	Transcript	missense_variant	1375/4228	1236/4050	412/1349	M/I	atG/atT		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	tolerated_low_confidence(0.47)		4/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	77	103885835	103885835	G	T	1	0	0	0	0	1	0	0	0	13543	1348	47	2		2	RIMS2	8	103885835	Missense_Mutation	SNP	G	C3N-01414_TP	4934171	103885835	41252801	241	24947											
ZFPM2	0	.	GRCh38	chr8	105318976	105318976	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagcaaaccccggcagaTcaaacgtaagtttgcgcgcg	13	5	11	12	5	1	1	1	0	0	1	1	1	1	1	2	1	4	5	2	1	4	2	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.35T>A	p.Ile12Asn	p.I12N	ENST00000407775	1/8	233	218	15	191	191	0	strelka-varscan-mutect	ZFPM2,missense_variant,p.Ile12Asn,ENST00000407775,NM_012082.3;ZFPM2,upstream_gene_variant,,ENST00000520492,;ZFPM2,intron_variant,,ENST00000518180,;	A	ENST00000407775	Transcript	missense_variant	285/4700	35/3456	12/1151	I/N	aTc/aAc		1		1	ZFPM2	HGNC	HGNC:16700	protein_coding	YES	CCDS47908.1	ENSP00000384179	Q8WW38		UPI000057A0B4	NM_012082.3	deleterious(0)		1/8																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	105318976	105318976	T	A	1	0	0	0	0	1	0	0	0	18236	1449	50	4		4	ZFPM2	8	105318976	Missense_Mutation	SNP	T	C3N-01414_TP	1433141	105318976	39819660	242	24948											
CSMD3	0	.	GRCh38	chr8	112650219	112650219	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcgcatagaaggggctcTtcatgactcaacctgtatcc	9	13	8	11	1	3	2	2	1	1	1	5	2	4	2	2	2	1	3	2	2	4	5	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.3135A>T	p.Glu1045Asp	p.E1045D	ENST00000297405	19/71	560	381	179	444	444	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Glu1045Asp,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Glu1005Asp,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Glu941Asp,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Glu385Asp,ENST00000339701,;	A	ENST00000297405	Transcript	missense_variant	3380/13212	3135/11124	1045/3707	E/D	gaA/gaT		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	tolerated(0.54)		19/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		rs1157686539	.												A	3	1	77	112650219	112650219	T	A	1	0	0	0	0	1	0	0	0	3747	1606	56	4		4	CSMD3	8	112650219	Missense_Mutation	SNP	T	C3N-01414_TP	7331243	112650219	32488417	243	24949											
POU5F1B	0	.	GRCh38	chr8	127416380	127416380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgatgtggggctcatcctgGgggttctatttgggaaggtg	5	12	17	7	1	2	0	1	0	1	0	3	2	3	1	2	6	0	2	2	6	2	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.514G>T	p.Gly172Trp	p.G172W	ENST00000465342	2/2	811	715	96	537	537	0	strelka-varscan-mutect	POU5F1B,missense_variant,p.Gly172Trp,ENST00000465342,NM_001159542.1;CASC8,intron_variant,,ENST00000502082,;CASC8,intron_variant,,ENST00000501396,;CASC8,intron_variant,,ENST00000523825,;	T	ENST00000465342	Transcript	missense_variant	1671/5360	514/1080	172/359	G/W	Ggg/Tgg		1		1	POU5F1B	HGNC	HGNC:9223	protein_coding	YES	CCDS55274.1	ENSP00000419298	Q06416		UPI000013F18B	NM_001159542.1	deleterious(0)		2/2		PROSITE_profiles:PS51179,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF86,Pfam_domain:PF00157,Gene3D:1.10.260.40,SMART_domains:SM00352,Superfamily_domains:SSF47413,Prints_domain:PR00028																	MODERATE		SNV	3			1										PASS		.	.												T	3	4	77	127416380	127416380	G	T	1	0	0	0	0	1	0	0	0	12398	1232	43	2		2	POU5F1B	8	127416380	Missense_Mutation	SNP	G	C3N-01414_TP	14766161	127416380	17722256	244	24950											
NDRG1	0	.	GRCh38	chr8	133264560	133264560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttacggttcatgccgatGtcatggtaggtgaggatgac	10	11	13	7	2	2	2	2	2	0	0	2	4	2	3	1	4	3	2	1	4	3	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.192C>A	p.Asp64Glu	p.D64E	ENST00000414097	4/16	1115	1042	73	584	584	0	strelka-varscan-mutect	NDRG1,missense_variant,p.Asp64Glu,ENST00000414097,NM_001135242.1;NDRG1,missense_variant,p.Asp64Glu,ENST00000323851,NM_006096.3;NDRG1,missense_variant,p.Asp64Glu,ENST00000519228,;NDRG1,missense_variant,p.Asp64Glu,ENST00000521544,;NDRG1,missense_variant,p.Asp81Glu,ENST00000520230,;NDRG1,missense_variant,p.Asp64Glu,ENST00000522890,;NDRG1,missense_variant,p.Asp64Glu,ENST00000519580,;NDRG1,missense_variant,p.Asp75Glu,ENST00000520943,;NDRG1,missense_variant,p.Asp118Glu,ENST00000522738,;NDRG1,5_prime_UTR_variant,,ENST00000522476,NM_001258432.1;NDRG1,5_prime_UTR_variant,,ENST00000523892,;NDRG1,5_prime_UTR_variant,,ENST00000518480,;NDRG1,intron_variant,,ENST00000537882,NM_001258433.1;NDRG1,intron_variant,,ENST00000518176,;NDRG1,intron_variant,,ENST00000518066,;NDRG1,non_coding_transcript_exon_variant,,ENST00000518010,;NDRG1,missense_variant,p.Asp64Glu,ENST00000522377,;NDRG1,non_coding_transcript_exon_variant,,ENST00000523931,;NDRG1,non_coding_transcript_exon_variant,,ENST00000517745,;NDRG1,intron_variant,,ENST00000517599,;NDRG1,upstream_gene_variant,,ENST00000518094,;	T	ENST00000414097	Transcript	missense_variant	1060/3755	192/1185	64/394	D/E	gaC/gaA		1		-1	NDRG1	HGNC	HGNC:7679	protein_coding	YES	CCDS34945.1	ENSP00000404854	Q92597		UPI000012FEDD	NM_001135242.1	deleterious(0.03)		4/16		hmmpanther:PTHR11034,hmmpanther:PTHR11034:SF18,Gene3D:3.40.50.1820,Pfam_domain:PF03096,Superfamily_domains:SSF53474																	MODERATE	1	SNV	2			1										PASS		rs1474130558	.												T	3	4	77	133264560	133264560	G	T	1	0	0	0	0	1	0	0	0	10272	1368	48	2		2	NDRG1	8	133264560	Missense_Mutation	SNP	G	C3N-01414_TP	5848180	133264560	11874076	245	24951											
KHDRBS3	0	.	GRCh38	chr8	135542742	135542742	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacaaaaatgtccatccttgGgaaaggttccatgagagaca	15	8	10	8	0	0	2	0	1	0	1	3	5	3	3	3	2	0	1	3	2	3	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.296G>C	p.Gly99Ala	p.G99A	ENST00000355849	3/9	254	90	164	254	254	0	strelka-varscan-mutect	KHDRBS3,missense_variant,p.Gly99Ala,ENST00000355849,NM_006558.2;KHDRBS3,missense_variant,p.Gly71Ala,ENST00000524199,;KHDRBS3,missense_variant,p.Gly72Ala,ENST00000517394,;KHDRBS3,missense_variant,p.Gly14Ala,ENST00000524282,;KHDRBS3,intron_variant,,ENST00000520981,;KHDRBS3,missense_variant,p.Gly24Ala,ENST00000517859,;KHDRBS3,non_coding_transcript_exon_variant,,ENST00000519600,;	C	ENST00000355849	Transcript	missense_variant	706/1977	296/1041	99/346	G/A	gGg/gCg		1		1	KHDRBS3	HGNC	HGNC:18117	protein_coding	YES	CCDS6374.1	ENSP00000348108	O75525		UPI0000073E6F	NM_006558.2	deleterious(0.02)		3/9		hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF29,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	135542742	135542742	G	C	1	0	0	0	0	1	0	0	0	8069	1232	43	4		4	KHDRBS3	8	135542742	Missense_Mutation	SNP	G	C3N-01414_TP	2278182	135542742	9595894	246	24952											
FAM135B	0	.	GRCh38	chr8	138168010	138168010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctagtgaggtactccgaGttccggatatccagggacag	10	9	13	9	2	0	1	0	1	0	0	3	4	3	3	3	3	2	3	3	3	3	4	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1143C>A	p.Asn381Lys	p.N381K	ENST00000395297	12/20	243	202	41	185	185	0	strelka-varscan-mutect	FAM135B,missense_variant,p.Asn381Lys,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Asn381Lys,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;	T	ENST00000395297	Transcript	missense_variant	1314/6962	1143/4221	381/1406	N/K	aaC/aaA		1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	deleterious(0.03)		12/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	77	138168010	138168010	G	T	1	0	0	0	0	1	0	0	0	5299	1020	36	2		2	FAM135B	8	138168010	Missense_Mutation	SNP	G	C3N-01414_TP	2625268	138168010	6970626	247	24953											
COL22A1	0	.	GRCh38	chr8	138722049	138722049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaccttggttcctggcGgacctggtggtccatttggc	5	11	13	12	1	0	0	0	0	0	0	2	2	2	1	5	6	1	1	5	6	1	3	rs114182767		C3N-01414_TP	C3N-01414_NB	G	G																c.2288C>T	p.Pro763Leu	p.P763L	ENST00000303045	26/65	328	304	24	260	260	0	strelka-varscan-mutect	COL22A1,missense_variant,p.Pro763Leu,ENST00000303045,NM_152888.2;COL22A1,missense_variant,p.Pro476Leu,ENST00000435777,;COL22A1,intron_variant,,ENST00000341807,;	A	ENST00000303045	Transcript	missense_variant	2735/6346	2288/4881	763/1626	P/L	cCg/cTg	rs114182767,COSM454082	1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2	tolerated(0.74)		26/65		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,Pfam_domain:PF01391,Pfam_domain:PF01391											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs114182767	.												A	3	1	77	138722049	138722049	G	A	1	0	0	0	0	1	0	0	0	3469	1116	39	1		1	COL22A1	8	138722049	Missense_Mutation	SNP	G	C3N-01414_TP	554039	138722049	6416587	248	24954											
KCNK9	0	.	GRCh38	chr8	139618587	139618587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatgctgttgcggtttcCggcgagggatgccctctctt	4	12	13	12	3	1	0	0	0	1	0	3	3	2	1	3	3	3	3	3	3	0	3	rs370302731		C3N-01414_TP	C3N-01414_NB	C	C																c.796G>A	p.Gly266Arg	p.G266R	ENST00000520439	2/2	289	270	19	205	205	0	strelka-varscan-mutect	KCNK9,missense_variant,p.Gly266Arg,ENST00000520439,NM_001282534.1;KCNK9,missense_variant,p.Gly266Arg,ENST00000303015,;KCNK9,upstream_gene_variant,,ENST00000523477,;KCNK9,upstream_gene_variant,,ENST00000519923,;KCNK9,missense_variant,p.Gly266Arg,ENST00000522317,;	T	ENST00000520439	Transcript	missense_variant	860/1441	796/1125	266/374	G/R	Gga/Aga	rs370302731,COSM5238265,COSM5238266	1		-1	KCNK9	HGNC	HGNC:6283	protein_coding	YES	CCDS6377.1	ENSP00000430676	Q9NPC2	A0A024R9H3	UPI000000D8AC	NM_001282534.1	tolerated(0.84)		2/2		hmmpanther:PTHR11003:SF75,hmmpanther:PTHR11003,PIRSF_domain:PIRSF038061,Prints_domain:PR01585											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs370302731	.												T	3	4	77	139618587	139618587	C	T	1	0	0	0	0	1	0	0	0	7989	661	23	1		1	KCNK9	8	139618587	Missense_Mutation	SNP	C	C3N-01414_TP	896538	139618587	5520049	249	24955											
PTK2	0	.	GRCh38	chr8	140846648	140846648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttcctggtccacttgatCagctatctctaacatataat	12	15	4	10	0	2	1	1	1	1	0	5	1	4	1	2	1	2	1	2	1	5	6	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.481G>T	p.Asp161Tyr	p.D161Y	ENST00000340930	6/33	431	394	37	335	333	2	strelka-varscan-mutect	PTK2,missense_variant,p.Asp161Tyr,ENST00000522684,NM_153831.3;PTK2,missense_variant,p.Asp205Tyr,ENST00000517887,;PTK2,missense_variant,p.Asp205Tyr,ENST00000519419,;PTK2,missense_variant,p.Asp161Tyr,ENST00000395218,;PTK2,missense_variant,p.Asp161Tyr,ENST00000340930,NM_001199649.1;PTK2,missense_variant,p.Asp161Tyr,ENST00000521059,NM_005607.4;PTK2,missense_variant,p.Asp172Tyr,ENST00000519654,;PTK2,missense_variant,p.Asp76Tyr,ENST00000524357,;PTK2,downstream_gene_variant,,ENST00000520828,;PTK2,downstream_gene_variant,,ENST00000520475,;PTK2,3_prime_UTR_variant,,ENST00000519993,NM_001316342.1;PTK2,3_prime_UTR_variant,,ENST00000521791,;PTK2,3_prime_UTR_variant,,ENST00000523067,;PTK2,upstream_gene_variant,,ENST00000524202,;	A	ENST00000340930	Transcript	missense_variant	636/4414	481/3198	161/1065	D/Y	Gat/Tat		1		-1	PTK2	HGNC	HGNC:9611	protein_coding	YES	CCDS56557.1	ENSP00000341189	Q05397		UPI0001E8F57E	NM_001199649.1	deleterious(0.01)		6/33		Pfam_domain:PF00373,SMART_domains:SM00295,Superfamily_domains:SSF47031,PROSITE_profiles:PS50057,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF78																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	77	140846648	140846648	C	A	1	0	0	0	0	1	0	0	0	12918	826	29	2		2	PTK2	8	140846648	Missense_Mutation	SNP	C	C3N-01414_TP	1228061	140846648	4291988	250	24956											
ARC	0	.	GRCh38	chr8	142613353	142613353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagagcgtctggtacaggtCccgcttgcgccacaggaact	8	8	13	12	3	1	1	0	0	1	1	2	2	2	2	2	3	4	3	2	3	3	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.919G>T	p.Asp307Tyr	p.D307Y	ENST00000356613	1/3	267	236	31	186	186	0	strelka-varscan-mutect	ARC,missense_variant,p.Asp307Tyr,ENST00000356613,NM_015193.4;ARC,upstream_gene_variant,,ENST00000581404,;	A	ENST00000356613	Transcript	missense_variant	1120/2948	919/1191	307/396	D/Y	Gac/Tac		1		-1	ARC	HGNC	HGNC:648	protein_coding	YES	CCDS34950.1	ENSP00000349022	Q7LC44		UPI0000163B0F	NM_015193.4	tolerated(0.22)		1/3		Prints_domain:PR02027,hmmpanther:PTHR15962																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	142613353	142613353	C	A	1	0	0	0	0	1	0	0	0	963	855	30	2		2	ARC	8	142613353	Missense_Mutation	SNP	C	C3N-01414_TP	1766705	142613353	2525283	251	24957											
LY6K	0	.	GRCh38	chr8	142703110	142703110	+	Frame_Shift_Del	DEL	C	C	-																															gaaatatttccacgttttttCatggttgcgaagcagtgctc																										C3N-01414_TP	C3N-01414_NB	C	C																c.237delC	p.Phe79LeufsTer45	p.F79Lfs*45	ENST00000292430	3/3	201	100	101	211	211	0	sindel-varindel	LY6K,frameshift_variant,p.Phe79LeufsTer45,ENST00000292430,NM_017527.3;LY6K,3_prime_UTR_variant,,ENST00000522591,;LY6K,intron_variant,,ENST00000519387,NM_001160355.1;LY6K,downstream_gene_variant,,ENST00000518841,;CTD-2292P10.4,non_coding_transcript_exon_variant,,ENST00000520572,;LY6K,non_coding_transcript_exon_variant,,ENST00000519390,;	-	ENST00000292430	Transcript	frameshift_variant	654/2671	237/498	79/165	F/X	ttC/tt	COSM4768200	1		1	LY6K	HGNC	HGNC:24225	protein_coding	YES	CCDS6385.2	ENSP00000292430	Q17RY6		UPI0000071C96	NM_017527.3			3/3		Gene3D:2.10.60.10,hmmpanther:PTHR15049,hmmpanther:PTHR15049:SF1,Superfamily_domains:SSF57302											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	77	142703110	142703110	C	-	1	0	1	0	1	0	0	0	0	9009	825	29	0		0	LY6K	8	142703110	Frame_Shift_Del	DEL	C	C3N-01414_TP	89757	142703110	2435526	252	24958	521	2									
LY6K	0	.	GRCh38	chr8	142703111	142703111	+	Missense_Mutation	SNP	A	A	T																															aaatatttccacgttttttcAtggttgcgaagcagtgctcc																								novel		C3N-01414_TP	C3N-01414_NB	A	A																c.238A>T	p.Met80Leu	p.M80L	ENST00000292430	3/3	215	107	108	223	223	0	strelka-mutect	LY6K,missense_variant,p.Met80Leu,ENST00000292430,NM_017527.3;LY6K,3_prime_UTR_variant,,ENST00000522591,;LY6K,intron_variant,,ENST00000519387,NM_001160355.1;LY6K,downstream_gene_variant,,ENST00000518841,;CTD-2292P10.4,non_coding_transcript_exon_variant,,ENST00000520572,;LY6K,non_coding_transcript_exon_variant,,ENST00000519390,;	T	ENST00000292430	Transcript	missense_variant	655/2671	238/498	80/165	M/L	Atg/Ttg		1		1	LY6K	HGNC	HGNC:24225	protein_coding	YES	CCDS6385.2	ENSP00000292430	Q17RY6		UPI0000071C96	NM_017527.3	tolerated(1)		3/3		Gene3D:2.10.60.10,hmmpanther:PTHR15049,hmmpanther:PTHR15049:SF1,Superfamily_domains:SSF57302																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	142703111	142703111	A	T	1	0	0	0	0	1	0	0	0	9009	217	8	4		4	LY6K	8	142703111	Missense_Mutation	SNP	A	C3N-01414_TP	1	142703111	2435525	253	24959	521	2									
LYNX1	0	.	GRCh38	chr8	142764624	142764624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtcatggttgcagaggCtggtctggcagcaagcgatg	8	9	16	8	1	3	1	2	0	1	1	3	2	3	1	0	4	3	5	0	4	1	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.377G>T	p.Ser126Ile	p.S126I	ENST00000615007	5/5	204	169	35	212	212	0	strelka-varscan-mutect	LYNX1,missense_variant,p.Ser126Ile,ENST00000615007,NM_023946.3;LYNX1,missense_variant,p.Ser92Ile,ENST00000317543,NM_177458.1;LYNX1,intron_variant,,ENST00000523332,;LYNX1,intron_variant,,ENST00000521396,;RP11-706C16.7,intron_variant,,ENST00000523657,;	A	ENST00000615007	Transcript	missense_variant	1007/1293	377/396	126/131	S/I	aGc/aTc		1		-1	LYNX1	HGNC	HGNC:29604	protein_coding	YES	CCDS34951.1	ENSP00000479586	Q9BZG9	A0A140VJN6	UPI0000168665	NM_023946.3	deleterious(0)		5/5		Gene3D:2.10.60.10,Pfam_domain:PF00021,hmmpanther:PTHR16983,hmmpanther:PTHR16983:SF14,Superfamily_domains:SSF57302																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	142764624	142764624	C	A	1	0	0	0	0	1	0	0	0	9019	797	28	2		2	LYNX1	8	142764624	Missense_Mutation	SNP	C	C3N-01414_TP	61513	142764624	2374012	254	24960											
GLDC	0	.	GRCh38	chr9	6553421	6553421	+	Missense_Mutation	SNP	C	C	A																															actggagccccatggggccgCactgacggttcccacaggac																								novel		C3N-01414_TP	C3N-01414_NB	C	C																c.2404G>T	p.Ala802Ser	p.A802S	ENST00000321612	20/25	275	206	69	419	417	2	strelka-varscan-mutect	GLDC,missense_variant,p.Ala802Ser,ENST00000321612,NM_000170.2;GLDC,downstream_gene_variant,,ENST00000460457,;GLDC,downstream_gene_variant,,ENST00000467946,;	A	ENST00000321612	Transcript	missense_variant	2555/3767	2404/3063	802/1020	A/S	Gcg/Tcg		1		-1	GLDC	HGNC	HGNC:4313	protein_coding	YES	CCDS34987.1	ENSP00000370737	P23378		UPI0000684276	NM_000170.2	tolerated(0.07)		20/25		HAMAP:MF_00711,hmmpanther:PTHR11773,hmmpanther:PTHR11773:SF1,TIGRFAM_domain:TIGR00461,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	6553421	6553421	C	A	1	0	0	0	0	1	0	0	0	6311	710	25	2		2	GLDC	9	6553421	Missense_Mutation	SNP	C	C3N-01414_TP		6553421	131841296	255	24961	522	2									
GLDC	0	.	GRCh38	chr9	6553423	6553423	+	Missense_Mutation	SNP	C	C	A																															tggagccccatggggccgcaCtgacggttcccacaggacag																								novel		C3N-01414_TP	C3N-01414_NB	C	C																c.2402G>T	p.Ser801Ile	p.S801I	ENST00000321612	20/25	279	211	68	439	439	0	strelka-varscan-mutect	GLDC,missense_variant,p.Ser801Ile,ENST00000321612,NM_000170.2;GLDC,downstream_gene_variant,,ENST00000460457,;GLDC,downstream_gene_variant,,ENST00000467946,;	A	ENST00000321612	Transcript	missense_variant	2553/3767	2402/3063	801/1020	S/I	aGt/aTt		1		-1	GLDC	HGNC	HGNC:4313	protein_coding	YES	CCDS34987.1	ENSP00000370737	P23378		UPI0000684276	NM_000170.2	deleterious(0)		20/25		HAMAP:MF_00711,hmmpanther:PTHR11773,hmmpanther:PTHR11773:SF1,TIGRFAM_domain:TIGR00461,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	6553423	6553423	C	A	1	0	0	0	0	1	0	0	0	6311	565	20	2		2	GLDC	9	6553423	Missense_Mutation	SNP	C	C3N-01414_TP	2	6553423	131841294	256	24962	522	2									
SH3GL2	0	.	GRCh38	chr9	17795591	17795591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagctctgtacgactttgaaCctgaaaatgaaggggagttg	12	10	13	6	1	1	3	0	3	1	0	1	6	1	4	1	2	3	3	1	2	5	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.907C>T	p.Pro303Ser	p.P303S	ENST00000380607	9/9	140	105	35	274	274	0	strelka-varscan-mutect	SH3GL2,missense_variant,p.Pro303Ser,ENST00000380607,NM_003026.3;	T	ENST00000380607	Transcript	missense_variant	1027/2565	907/1059	303/352	P/S	Cct/Tct		1		1	SH3GL2	HGNC	HGNC:10831	protein_coding	YES	CCDS6483.1	ENSP00000369981	Q99962		UPI0000135933	NM_003026.3	deleterious(0.04)		9/9		PROSITE_profiles:PS50002,hmmpanther:PTHR10663:SF205,hmmpanther:PTHR10663,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR01887,Prints_domain:PR00452																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	17795591	17795591	C	T	1	0	0	0	0	1	0	0	0	14510	507	18	3		3	SH3GL2	9	17795591	Missense_Mutation	SNP	C	C3N-01414_TP	11242168	17795591	120599126	257	24963											
TEK	0	.	GRCh38	chr9	27212756	27212756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatggaaaccttctggaCttccttcgcaagagccgtgt	8	10	9	14	2	1	1	0	0	1	1	3	3	2	3	5	2	2	1	5	2	2	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.2736C>T	p.=	p.D912D	ENST00000380036	17/23	532	409	123	832	832	0	strelka-varscan-mutect	TEK,synonymous_variant,p.=,ENST00000380036,NM_000459.4;TEK,synonymous_variant,p.=,ENST00000406359,NM_001290077.1;TEK,synonymous_variant,p.=,ENST00000519097,NM_001290078.1;TEK,3_prime_UTR_variant,,ENST00000615002,;RP11-179D22.1,downstream_gene_variant,,ENST00000422804,;	T	ENST00000380036	Transcript	synonymous_variant	3178/4760	2736/3375	912/1124	D	gaC/gaT		1		1	TEK	HGNC	HGNC:11724	protein_coding	YES	CCDS6519.1	ENSP00000369375	Q02763		UPI000021121E	NM_000459.4			17/23		Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF125,SMART_domains:SM00219,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	77	27212756	27212756	C	T	1	0	0	0	0	0	0	0	1	16163	564	20	3		3	TEK	9	27212756	Silent	SNP	C	C3N-01414_TP	9417165	27212756	111181961	258	24964											
C9orf131	0	.	GRCh38	chr9	35043812	35043812	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccctcccctagactccCtgccagaactccagagagag	9	7	8	17	0	0	4	0	0	0	4	3	5	3	4	6	0	3	0	6	0	2	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1183C>A	p.Leu395Met	p.L395M	ENST00000312292	2/2	222	165	57	346	346	0	strelka-varscan-mutect	C9orf131,missense_variant,p.Leu395Met,ENST00000312292,NM_001287391.1,NM_203299.3,NM_001040410.2;C9orf131,missense_variant,p.Leu347Met,ENST00000421362,NM_001040412.2;C9orf131,missense_variant,p.Leu322Met,ENST00000354479,NM_001040411.2;C9orf131,downstream_gene_variant,,ENST00000378745,;C9orf131,downstream_gene_variant,,ENST00000534880,;C9orf131,downstream_gene_variant,,ENST00000537671,;RP11-182N22.9,non_coding_transcript_exon_variant,,ENST00000624351,;C9orf131,downstream_gene_variant,,ENST00000416537,;	A	ENST00000312292	Transcript	missense_variant	1230/3409	1183/3240	395/1079	L/M	Ctg/Atg		1		1	C9orf131	HGNC	HGNC:31418	protein_coding	YES	CCDS6572.2	ENSP00000308279	Q5VYM1		UPI00001605AC	NM_001287391.1,NM_203299.3,NM_001040410.2	tolerated(0.14)		2/2		hmmpanther:PTHR21777																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	35043812	35043812	C	A	1	0	0	0	0	1	0	0	0	2173	680	24	2		2	C9orf131	9	35043812	Missense_Mutation	SNP	C	C3N-01414_TP	7831056	35043812	103350905	259	24965											
APBA1	0	.	GRCh38	chr9	69516212	69516212	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgtaccgctgccccgcCtcgccgccgcccgcggggcc	1	6	13	21	7	0	0	0	0	0	0	1	0	0	0	8	2	3	3	8	2	1	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.999G>T	p.Glu333Asp	p.E333D	ENST00000265381	2/13	84	65	19	123	123	0	strelka-varscan-mutect	APBA1,missense_variant,p.Glu333Asp,ENST00000265381,NM_001163.3;	A	ENST00000265381	Transcript	missense_variant	1222/6534	999/2514	333/837	E/D	gaG/gaT		1		-1	APBA1	HGNC	HGNC:578	protein_coding	YES	CCDS6630.1	ENSP00000265381	Q02410		UPI000013D611	NM_001163.3	tolerated_low_confidence(0.19)		2/13		hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	69516212	69516212	C	A	1	0	0	0	0	1	0	0	0	876	680	24	2		2	APBA1	9	69516212	Missense_Mutation	SNP	C	C3N-01414_TP	34472400	69516212	68878505	260	24966											
GCNT1	0	.	GRCh38	chr9	76502738	76502738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccttagtaaagaagaggcGgagtttccaatagcatattc	13	10	9	9	1	0	2	0	0	0	2	2	3	1	3	3	2	1	3	3	2	7	6	rs113228037		C3N-01414_TP	C3N-01414_NB	G	G																c.357G>A	p.=	p.A119A	ENST00000442371	3/3	167	141	26	270	269	1	strelka-varscan-mutect	GCNT1,synonymous_variant,p.=,ENST00000442371,NM_001097634.1;GCNT1,synonymous_variant,p.=,ENST00000376730,NM_001490.4;GCNT1,synonymous_variant,p.=,ENST00000444201,NM_001097633.1,NM_001097635.1,NM_001097636.1;GCNT1,downstream_gene_variant,,ENST00000488136,;GCNT1,downstream_gene_variant,,ENST00000480311,;	A	ENST00000442371	Transcript	synonymous_variant	1296/5972	357/1287	119/428	A	gcG/gcA	rs113228037	1		1	GCNT1	HGNC	HGNC:4203	protein_coding	YES	CCDS6653.1	ENSP00000415454	Q02742		UPI000013CF63	NM_001097634.1			3/3		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF81																	LOW	1	SNV	1			1										PASS		rs113228037	.												A	2	1	77	76502738	76502738	G	A	1	0	0	0	0	0	0	0	1	6170	1103	39	1		1	GCNT1	9	76502738	Silent	SNP	G	C3N-01414_TP	6986526	76502738	61891979	261	24967											
GCNT1	0	.	GRCh38	chr9	76502957	76502957	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtttatgcatcgtggagccgGgttcaggctgacctcaactg	7	11	13	10	2	2	1	2	1	0	0	3	2	2	2	2	3	3	4	2	3	2	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.576G>T	p.=	p.R192R	ENST00000442371	3/3	141	112	29	217	217	0	strelka-varscan-mutect	GCNT1,synonymous_variant,p.=,ENST00000442371,NM_001097634.1;GCNT1,synonymous_variant,p.=,ENST00000376730,NM_001490.4;GCNT1,synonymous_variant,p.=,ENST00000444201,NM_001097633.1,NM_001097635.1,NM_001097636.1;GCNT1,downstream_gene_variant,,ENST00000488136,;GCNT1,downstream_gene_variant,,ENST00000480311,;	T	ENST00000442371	Transcript	synonymous_variant	1515/5972	576/1287	192/428	R	cgG/cgT		1		1	GCNT1	HGNC	HGNC:4203	protein_coding	YES	CCDS6653.1	ENSP00000415454	Q02742		UPI000013CF63	NM_001097634.1			3/3		Pfam_domain:PF02485,hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF81																	LOW	1	SNV	1			1										PASS		rs1334493217	.												T	2	4	77	76502957	76502957	G	T	1	0	0	0	0	0	0	0	1	6170	1219	43	2		2	GCNT1	9	76502957	Silent	SNP	G	C3N-01414_TP	219	76502957	61891760	262	24968											
KIF27	0	.	GRCh38	chr9	83915314	83915314	+	Missense_Mutation	SNP	G	G	A																															caatatggccccctccaatgGtgtatgtcttcccagatcca																								novel		C3N-01414_TP	C3N-01414_NB	G	G																c.278C>T	p.Thr93Ile	p.T93I	ENST00000297814	2/18	69	54	15	127	127	0	strelka-varscan-mutect	KIF27,missense_variant,p.Thr93Ile,ENST00000297814,NM_017576.2;KIF27,missense_variant,p.Thr93Ile,ENST00000413982,NM_001271927.1;KIF27,missense_variant,p.Thr93Ile,ENST00000334204,NM_001271928.1;KIF27,missense_variant,p.Thr93Ile,ENST00000495062,;	A	ENST00000297814	Transcript	missense_variant	422/4653	278/4206	93/1401	T/I	aCc/aTc		1		-1	KIF27	HGNC	HGNC:18632	protein_coding	YES	CCDS6665.1	ENSP00000297814	Q86VH2		UPI000018F32F	NM_017576.2	deleterious(0)		2/18		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF510,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	83915314	83915314	G	A	1	0	0	0	0	1	0	0	0	8161	1261	44	3		3	KIF27	9	83915314	Missense_Mutation	SNP	G	C3N-01414_TP	7412357	83915314	54479403	263	24969	523	2									
KIF27	0	.	GRCh38	chr9	83915315	83915315	+	Missense_Mutation	SNP	T	T	A																															aatatggccccctccaatggTgtatgtcttcccagatccag																								novel		C3N-01414_TP	C3N-01414_NB	T	T																c.277A>T	p.Thr93Ser	p.T93S	ENST00000297814	2/18	70	56	14	126	126	0	strelka-varscan-mutect	KIF27,missense_variant,p.Thr93Ser,ENST00000297814,NM_017576.2;KIF27,missense_variant,p.Thr93Ser,ENST00000413982,NM_001271927.1;KIF27,missense_variant,p.Thr93Ser,ENST00000334204,NM_001271928.1;KIF27,missense_variant,p.Thr93Ser,ENST00000495062,;	A	ENST00000297814	Transcript	missense_variant	421/4653	277/4206	93/1401	T/S	Acc/Tcc		1		-1	KIF27	HGNC	HGNC:18632	protein_coding	YES	CCDS6665.1	ENSP00000297814	Q86VH2		UPI000018F32F	NM_017576.2	deleterious(0)		2/18		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF510,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	83915315	83915315	T	A	1	0	0	0	0	1	0	0	0	8161	1696	59	4		4	KIF27	9	83915315	Missense_Mutation	SNP	T	C3N-01414_TP	1	83915315	54479402	264	24970	523	2									
SEMA4D	0	.	GRCh38	chr9	89396832	89396832	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggatgtagttgaggcactCtgtctgcagggaagagaaat	11	9	14	7	1	2	2	0	1	2	1	2	5	2	4	1	3	1	4	1	3	3	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.319G>T	p.Glu107Ter	p.E107*	ENST00000450295	6/16	164	128	36	240	240	0	strelka-varscan-mutect	SEMA4D,stop_gained,p.Glu107Ter,ENST00000450295,;SEMA4D,stop_gained,p.Glu107Ter,ENST00000438547,NM_006378.3;SEMA4D,stop_gained,p.Glu107Ter,ENST00000356444,;SEMA4D,stop_gained,p.Glu107Ter,ENST00000422704,;SEMA4D,stop_gained,p.Glu107Ter,ENST00000420987,NM_001142287.1;SEMA4D,stop_gained,p.Glu107Ter,ENST00000339861,;SEMA4D,stop_gained,p.Glu107Ter,ENST00000455551,;SEMA4D,stop_gained,p.Glu107Ter,ENST00000420681,;SEMA4D,stop_gained,p.Glu107Ter,ENST00000429836,;SEMA4D,stop_gained,p.Glu107Ter,ENST00000537934,;	A	ENST00000450295	Transcript	stop_gained	1096/5684	319/2589	107/862	E/*	Gag/Tag		1		-1	SEMA4D	HGNC	HGNC:10732	protein_coding	YES	CCDS6685.1	ENSP00000416523	Q92854		UPI0000135A6C				6/16		PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF18,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	77	89396832	89396832	C	A	1	0	0	0	0	0	1	0	0	14310	927	32	2		2	SEMA4D	9	89396832	Nonsense_Mutation	SNP	C	C3N-01414_TP	5481517	89396832	48997885	265	24971											
PHF2	0	.	GRCh38	chr9	93676862	93676862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccgctggcaccttcaccgGggcccaggctggccgcacct	5	5	13	18	3	1	0	1	0	0	0	1	0	1	0	6	5	1	4	6	5	0	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.3101G>T	p.Gly1034Val	p.G1034V	ENST00000359246	21/22	145	114	31	184	183	1	strelka-varscan-mutect	PHF2,missense_variant,p.Gly1034Val,ENST00000359246,NM_005392.3;PHF2,missense_variant,p.Gly247Val,ENST00000375376,;PHF2,missense_variant,p.Gly266Val,ENST00000610682,;	T	ENST00000359246	Transcript	missense_variant	3468/5569	3101/3291	1034/1096	G/V	gGg/gTg		1		1	PHF2	HGNC	HGNC:8920	protein_coding	YES	CCDS35069.1	ENSP00000352185	O75151		UPI0000211A97	NM_005392.3	tolerated(0.47)		21/22		hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF14,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	93676862	93676862	G	T	1	0	0	0	0	1	0	0	0	11916	1232	43	2		2	PHF2	9	93676862	Missense_Mutation	SNP	G	C3N-01414_TP	4280030	93676862	44717855	266	24972											
LHX2	0	.	GRCh38	chr9	124015380	124015380	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggccgctgcagccgcGgcggccaagagcgcggggct	4	2	20	15	8	0	1	0	0	0	1	0	1	0	1	3	6	3	3	3	6	1	0	rs760714480		C3N-01414_TP	C3N-01414_NB	G	G																c.582G>T	p.=	p.A194A	ENST00000373615	3/5	112	80	32	160	160	0	varscan-mutect	LHX2,synonymous_variant,p.=,ENST00000373615,NM_004789.3;LHX2,synonymous_variant,p.=,ENST00000446480,;LHX2,upstream_gene_variant,,ENST00000488674,;LHX2,downstream_gene_variant,,ENST00000560961,;RP11-85O21.4,downstream_gene_variant,,ENST00000421041,;	T	ENST00000373615	Transcript	synonymous_variant	1321/2554	582/1221	194/406	A	gcG/gcT	rs760714480	1		1	LHX2	HGNC	HGNC:6594	protein_coding	YES	CCDS6853.1	ENSP00000362717	P50458		UPI000012E659	NM_004789.3			3/5		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs760714480	.												T	2	4	77	124015380	124015380	G	T	1	0	0	0	0	0	0	0	1	8680	1103	39	1		1	LHX2	9	124015380	Silent	SNP	G	C3N-01414_TP	30338518	124015380	14379337	267	24973											
FUBP3	0	.	GRCh38	chr9	130630749	130630749	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaggggggttccccagcaGatcgaggtggccaggcagct	8	6	16	11	1	1	1	1	0	0	1	3	2	2	1	3	6	2	4	3	6	0	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1239G>C	p.Gln413His	p.Q413H	ENST00000319725	13/19	52	40	12	53	53	0	strelka-varscan-mutect	FUBP3,missense_variant,p.Gln413His,ENST00000319725,NM_003934.1;MIR6856,downstream_gene_variant,,ENST00000613330,;FUBP3,non_coding_transcript_exon_variant,,ENST00000487406,;FUBP3,upstream_gene_variant,,ENST00000472006,;	C	ENST00000319725	Transcript	missense_variant	1314/3124	1239/1719	413/572	Q/H	caG/caC		1		1	FUBP3	HGNC	HGNC:4005	protein_coding	YES	CCDS43893.1	ENSP00000318177	Q96I24	A0A024R8A7	UPI00001C1EAA	NM_003934.1	deleterious(0)		13/19		PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF100,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	130630749	130630749	G	C	1	0	0	0	0	1	0	0	0	5964	933	33	4		4	FUBP3	9	130630749	Missense_Mutation	SNP	G	C3N-01414_TP	6615369	130630749	7763968	268	24974											
ADAMTSL2	0	.	GRCh38	chr9	133536755	133536755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgggcctggttcctgCtggttctggcagttgtagct	2	14	14	11	0	1	0	0	0	1	0	2	0	2	0	3	4	3	8	3	4	1	4	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.43C>T	p.=	p.L15L	ENST00000354484	2/19	219	175	44	303	303	0	strelka-varscan-mutect	ADAMTSL2,synonymous_variant,p.=,ENST00000393061,;ADAMTSL2,synonymous_variant,p.=,ENST00000354484,NM_001145320.1;ADAMTSL2,synonymous_variant,p.=,ENST00000393060,NM_014694.3;	T	ENST00000354484	Transcript	synonymous_variant	600/4068	43/2856	15/951	L	Ctg/Ttg		1		1	ADAMTSL2	HGNC	HGNC:14631	protein_coding	YES	CCDS6976.1	ENSP00000346478	Q86TH1		UPI000018CEA2	NM_001145320.1			2/19		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF147																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	77	133536755	133536755	C	T	1	0	0	0	0	0	0	0	1	319	796	28	3		3	ADAMTSL2	9	133536755	Silent	SNP	C	C3N-01414_TP	2906006	133536755	4857962	269	24975											
PNPLA7	0	.	GRCh38	chr9	137497307	137497307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagtcggacttgtccccCtgcctgcggaagacacagag	8	7	13	13	2	0	2	0	0	0	2	2	4	1	4	3	2	3	1	3	2	1	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1893G>T	p.Gln631His	p.Q631H	ENST00000406427	18/35	71	49	22	108	108	0	strelka-varscan-mutect	PNPLA7,missense_variant,p.Gln631His,ENST00000406427,NM_001098537.2;PNPLA7,missense_variant,p.Gln606His,ENST00000277531,NM_152286.4;	A	ENST00000406427	Transcript	missense_variant	2230/4806	1893/4029	631/1342	Q/H	caG/caT		1		-1	PNPLA7	HGNC	HGNC:24768	protein_coding	YES	CCDS48070.1	ENSP00000384610	Q6ZV29		UPI000443805D	NM_001098537.2	deleterious(0)		18/35		Gene3D:2.60.120.10,Pfam_domain:PF00027,PROSITE_profiles:PS50042,hmmpanther:PTHR14226,hmmpanther:PTHR14226:SF23,SMART_domains:SM00100,Superfamily_domains:SSF51206																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	77	137497307	137497307	C	A	1	0	0	0	0	1	0	0	0	12278	695	24	2		2	PNPLA7	9	137497307	Missense_Mutation	SNP	C	C3N-01414_TP	3960552	137497307	897410	270	24976											
CACNA1B	0	.	GRCh38	chr9	138118754	138118754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctccatgccccgccttGcggccgagactcaggtaggt	5	7	13	16	4	1	1	1	0	0	1	2	2	2	1	6	4	2	1	6	4	1	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.6016G>T	p.Ala2006Ser	p.A2006S	ENST00000371372	44/47	188	147	41	251	251	0	strelka-varscan-mutect	CACNA1B,missense_variant,p.Ala2006Ser,ENST00000371372,NM_000718.3;CACNA1B,missense_variant,p.Ala2004Ser,ENST00000371363,;CACNA1B,missense_variant,p.Ala2007Ser,ENST00000371355,;CACNA1B,missense_variant,p.Ala2005Ser,ENST00000371357,;CACNA1B,missense_variant,p.Ala2006Ser,ENST00000277549,;CACNA1B,missense_variant,p.Ala2006Ser,ENST00000277551,NM_001243812.1;	T	ENST00000371372	Transcript	missense_variant	6161/9790	6016/7020	2006/2339	A/S	Gcg/Tcg		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3	tolerated(0.39)		44/47		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	77	138118754	138118754	G	T	1	0	0	0	0	1	0	0	0	2227	1319	46	2		2	CACNA1B	9	138118754	Missense_Mutation	SNP	G	C3N-01414_TP	621447	138118754	275963	271	24977											
CELF2	0	.	GRCh38	chr10	11314255	11314255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaataatattaatgcactaGcaggtaccatcaacagtgag	16	10	8	7	0	1	2	1	2	0	0	1	2	1	2	1	1	4	3	1	1	7	5	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1093G>C	p.Ala365Pro	p.A365P	ENST00000542579	10/14	355	274	81	515	515	0	strelka-varscan-mutect	CELF2,missense_variant,p.Ala334Pro,ENST00000417956,NM_001025076.2;CELF2,missense_variant,p.Ala365Pro,ENST00000542579,NM_006561.3;CELF2,missense_variant,p.Ala334Pro,ENST00000399850,;CELF2,missense_variant,p.Ala358Pro,ENST00000416382,NM_001025077.2;CELF2,missense_variant,p.Ala358Pro,ENST00000631460,;CELF2,missense_variant,p.Ala370Pro,ENST00000636488,;CELF2,missense_variant,p.Ala334Pro,ENST00000632728,;CELF2,missense_variant,p.Ala370Pro,ENST00000637215,;CELF2,missense_variant,p.Ala334Pro,ENST00000609692,;CELF2,missense_variant,p.Ala365Pro,ENST00000632065,;CELF2,missense_variant,p.Ala334Pro,ENST00000608830,NM_001083591.1;CELF2,missense_variant,p.Ala334Pro,ENST00000638035,;CELF2,missense_variant,p.Ala358Pro,ENST00000631816,;CELF2,missense_variant,p.Ala334Pro,ENST00000354897,;CELF2,missense_variant,p.Ala365Pro,ENST00000633077,;CELF2-AS1,downstream_gene_variant,,ENST00000379256,;CELF2,3_prime_UTR_variant,,ENST00000609870,;CELF2,3_prime_UTR_variant,,ENST00000633200,;	C	ENST00000542579	Transcript	missense_variant	1253/7982	1093/1566	365/521	A/P	Gca/Cca		1		1	CELF2	HGNC	HGNC:2550	protein_coding	YES	CCDS44355.1	ENSP00000443926		E9PC62	UPI0000F58F21	NM_006561.3	tolerated(0.39)		10/14																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	11314255	11314255	G	C	1	0	0	0	0	1	0	0	0	2923	985	34	4		4	CELF2	10	11314255	Missense_Mutation	SNP	G	C3N-01414_TP		11314255	122483167	272	24978											
CUBN	0	.	GRCh38	chr10	16869741	16869741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcttcacatttggtgggcGcttggaaccgcagaatttgc	7	12	12	10	2	2	1	1	0	1	1	2	2	2	2	1	3	2	3	1	3	2	4	rs375906166		C3N-01414_TP	C3N-01414_NB	G	G																c.9349C>A	p.Arg3117Ser	p.R3117S	ENST00000377833	59/67	456	360	96	724	724	0	strelka-varscan-mutect	CUBN,missense_variant,p.Arg3117Ser,ENST00000377833,NM_001081.3;	T	ENST00000377833	Transcript	missense_variant	9415/11949	9349/10872	3117/3623	R/S	Cgc/Agc	rs375906166	1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3	tolerated(0.11)		59/67		PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		rs375906166	.												T	3	4	77	16869741	16869741	G	T	1	0	0	0	0	1	0	0	0	3861	1087	38	1		1	CUBN	10	16869741	Missense_Mutation	SNP	G	C3N-01414_TP	5555486	16869741	116927681	273	24979											
CUBN	0	.	GRCh38	chr10	16916022	16916022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctggtactcttccccCacactgagctgcaaaaaata	11	10	6	14	0	1	1	0	1	1	0	2	1	2	1	3	1	4	3	3	1	5	4	rs775766640		C3N-01414_TP	C3N-01414_NB	C	C																c.7009G>T	p.Gly2337Trp	p.G2337W	ENST00000377833	46/67	328	256	72	491	491	0	strelka-varscan-mutect	CUBN,missense_variant,p.Gly2337Trp,ENST00000377833,NM_001081.3;	A	ENST00000377833	Transcript	missense_variant	7075/11949	7009/10872	2337/3623	G/W	Ggg/Tgg	rs775766640	1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3	deleterious(0)		46/67		PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF645,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		rs775766640	.												A	3	1	77	16916022	16916022	C	A	1	0	0	0	0	1	0	0	0	3861	594	21	2		2	CUBN	10	16916022	Missense_Mutation	SNP	C	C3N-01414_TP	46281	16916022	116881400	274	24980											
CUBN	0	.	GRCh38	chr10	16952339	16952339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataattggcagggaaccGtggagaggaaacagtatcaa	15	7	14	5	1	1	1	1	0	0	1	1	5	1	4	1	5	2	2	1	5	5	3	rs551594427		C3N-01414_TP	C3N-01414_NB	G	G																c.4906C>T	p.Arg1636Trp	p.R1636W	ENST00000377833	33/67	436	383	53	615	615	0	strelka-varscan-mutect	CUBN,missense_variant,p.Arg1636Trp,ENST00000377833,NM_001081.3;	A	ENST00000377833	Transcript	missense_variant	4972/11949	4906/10872	1636/3623	R/W	Cgg/Tgg	rs551594427,COSM1238618	1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3	tolerated(0.06)		33/67		PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF645,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs551594427	.												A	3	1	77	16952339	16952339	G	A	1	0	0	0	0	1	0	0	0	3861	1144	40	1		1	CUBN	10	16952339	Missense_Mutation	SNP	G	C3N-01414_TP	36317	16952339	116845083	275	24981											
SPAG6	0	.	GRCh38	chr10	22368545	22368545	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacgagcagttggtaaacaTtctccccagctagctcaggc	10	10	9	12	1	2	0	1	0	1	0	3	1	2	0	2	2	5	5	2	2	4	5	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.339T>C	p.=	p.H113H	ENST00000376624	4/11	185	157	28	259	259	0	strelka-varscan-mutect	SPAG6,synonymous_variant,p.=,ENST00000376603,NM_001253855.1;SPAG6,synonymous_variant,p.=,ENST00000376624,NM_012443.3;SPAG6,synonymous_variant,p.=,ENST00000313311,NM_172242.2;SPAG6,synonymous_variant,p.=,ENST00000538630,NM_001253854.1;SPAG6,synonymous_variant,p.=,ENST00000435326,;SPAG6,intron_variant,,ENST00000456231,;RP11-301N24.3,intron_variant,,ENST00000422675,;SPAG6,intron_variant,,ENST00000488555,;	C	ENST00000376624	Transcript	synonymous_variant	481/2605	339/1530	113/509	H	caT/caC		1		1	SPAG6	HGNC	HGNC:11215	protein_coding	YES	CCDS7139.1	ENSP00000365811	O75602	A0A140VJU9	UPI0000073ED7	NM_012443.3			4/11		hmmpanther:PTHR23314:SF1,hmmpanther:PTHR23314,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	77	22368545	22368545	T	C	1	0	0	0	0	0	0	0	1	15313	1490	52	5		5	SPAG6	10	22368545	Silent	SNP	T	C3N-01414_TP	5416206	22368545	111428877	276	24982											
PARD3	0	.	GRCh38	chr10	34111526	34111526	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtagttctgctcccaagaGtcctgggagaccgagctggc	8	8	14	11	1	1	2	0	0	1	2	3	5	3	2	3	2	2	4	3	2	2	2			C3N-01414_TP	C3N-01414_NB	G	G																c.3714C>G	p.Asp1238Glu	p.D1238E	ENST00000374789	25/25	58	53	5	67	67	0	strelka-varscan-mutect	PARD3,missense_variant,p.Asp1238Glu,ENST00000374789,NM_019619.3;PARD3,missense_variant,p.Asp1235Glu,ENST00000374788,NM_001184785.1;PARD3,missense_variant,p.Asp1222Glu,ENST00000545693,NM_001184786.1;PARD3,missense_variant,p.Asp1201Glu,ENST00000346874,NM_001184787.1;PARD3,missense_variant,p.Asp1192Glu,ENST00000350537,NM_001184789.1,NM_001184788.1;PARD3,missense_variant,p.Asp1178Glu,ENST00000374790,;PARD3,missense_variant,p.Asp1148Glu,ENST00000545260,NM_001184790.1;PARD3,missense_variant,p.Asp1126Glu,ENST00000374794,NM_001184791.1;	C	ENST00000374789	Transcript	missense_variant	4040/6005	3714/4071	1238/1356	D/E	gaC/gaG	COSM427519	1		-1	PARD3	HGNC	HGNC:16051	protein_coding	YES	CCDS7178.1	ENSP00000363921	Q8TEW0		UPI0000073A9F	NM_019619.3	deleterious_low_confidence(0.04)		25/25		hmmpanther:PTHR16484,hmmpanther:PTHR16484:SF10											1						MODERATE	1	SNV	1		1	1										PASS		rs1228264244	.												C	3	2	77	34111526	34111526	G	C	1	0	0	0	0	1	0	0	0	11523	1020	36	4		4	PARD3	10	34111526	Missense_Mutation	SNP	G	C3N-01414_TP	11742981	34111526	99685896	277	24983											
ANKRD30A	0	.	GRCh38	chr10	37166669	37166669	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgcgcatcaaaaagaaaTagataaaataaatggaaaat	22	7	8	4	1	1	2	1	0	0	2	1	3	1	3	0	2	1	2	0	2	10	3	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.1961T>A	p.Ile654Lys	p.I654K	ENST00000361713	19/36	82	64	18	104	104	0	strelka-varscan-mutect	ANKRD30A,missense_variant,p.Ile654Lys,ENST00000374660,;ANKRD30A,missense_variant,p.Ile710Lys,ENST00000611781,;ANKRD30A,missense_variant,p.Ile654Lys,ENST00000361713,NM_052997.2;ANKRD30A,intron_variant,,ENST00000602533,;	A	ENST00000361713	Transcript	missense_variant	2060/4405	1961/4026	654/1341	I/K	aTa/aAa		1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2	tolerated(0.93)		19/36																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	77	37166669	37166669	T	A	1	0	0	0	0	1	0	0	0	761	1406	49	4		4	ANKRD30A	10	37166669	Missense_Mutation	SNP	T	C3N-01414_TP	3055143	37166669	96630753	278	24984											
ZNF22	0	.	GRCh38	chr10	45004039	45004039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtctgtggctggtctccGttaagtatagggctttttga	7	15	13	6	1	2	1	0	1	2	0	3	2	2	1	1	3	0	4	1	3	4	5			C3N-01414_TP	C3N-01414_NB	G	G																c.671G>T	p.Arg224Leu	p.R224L	ENST00000298299	2/2	95	76	19	101	100	1	strelka-varscan-mutect	ZNF22,missense_variant,p.Arg224Leu,ENST00000298299,NM_006963.4;C10orf25,upstream_gene_variant,,ENST00000625168,;CEP164P1,non_coding_transcript_exon_variant,,ENST00000456938,;	T	ENST00000298299	Transcript	missense_variant	1264/2551	671/675	224/224	R/L	cGt/cTt	COSM5473015	1		1	ZNF22	HGNC	HGNC:13012	protein_coding	YES	CCDS7211.1	ENSP00000298299	P17026	A0A024R7T4	UPI0000001C08	NM_006963.4	deleterious_low_confidence(0)		2/2													1						MODERATE	1	SNV	1		1	1										PASS		rs1311422923	.												T	3	4	77	45004039	45004039	G	T	1	0	0	0	0	1	0	0	0	18351	1145	40	1		1	ZNF22	10	45004039	Missense_Mutation	SNP	G	C3N-01414_TP	7837370	45004039	88793383	279	24985											
ZFAND4	0	.	GRCh38	chr10	45618147	45618147	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcgccaacctgcctgcattCgtagctactagccagtcctg	7	10	8	16	2	0	0	0	0	0	0	3	0	1	0	5	0	6	3	5	0	4	4	rs373664927		C3N-01414_TP	C3N-01414_NB	C	C																c.2041G>C	p.Glu681Gln	p.E681Q	ENST00000344646	9/10	124	90	34	242	242	0	strelka-varscan-mutect	ZFAND4,missense_variant,p.Glu607Gln,ENST00000374366,NM_001282906.1,NM_001282905.1;ZFAND4,missense_variant,p.Glu681Gln,ENST00000344646,NM_001128324.2,NM_174890.3;ZFAND4,3_prime_UTR_variant,,ENST00000374371,;ZFAND4,non_coding_transcript_exon_variant,,ENST00000374370,;ZFAND4,non_coding_transcript_exon_variant,,ENST00000484333,;	G	ENST00000344646	Transcript	missense_variant	2257/3241	2041/2184	681/727	E/Q	Gaa/Caa	rs373664927	1		-1	ZFAND4	HGNC	HGNC:23504	protein_coding	YES	CCDS7214.1	ENSP00000339484	Q86XD8	A0A024R7V9	UPI0000161363	NM_001128324.2,NM_174890.3	deleterious(0.03)		9/10		Gene3D:4.10.1110.10,Pfam_domain:PF01428,PROSITE_profiles:PS51039,hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF109,SMART_domains:SM00154,Superfamily_domains:SSF118310																	MODERATE	1	SNV	1			1										PASS		rs373664927	.												G	3	3	77	45618147	45618147	C	G	1	0	0	0	0	1	0	0	0	18206	893	31	4		4	ZFAND4	10	45618147	Missense_Mutation	SNP	C	C3N-01414_TP	614108	45618147	88179275	280	24986											
WDFY4	0	.	GRCh38	chr10	48786707	48786707	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcatttgtggatgtttaTggatatattgctactcctcg	7	17	9	8	2	0	0	0	0	0	0	3	2	2	2	2	2	2	3	2	2	4	7	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.3645T>C	p.=	p.Y1215Y	ENST00000325239	19/61	312	240	72	461	461	0	strelka-varscan-mutect	WDFY4,synonymous_variant,p.=,ENST00000325239,NM_020945.1;	C	ENST00000325239	Transcript	synonymous_variant	3645/9555	3645/9555	1215/3184	Y	taT/taC		1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1			19/61		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	77	48786707	48786707	T	C	1	0	0	0	0	0	0	0	1	17831	1471	51	5		5	WDFY4	10	48786707	Silent	SNP	T	C3N-01414_TP	3168560	48786707	85010715	281	24987											
FAM170B	0	.	GRCh38	chr10	49131955	49131955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcggggctgcagttgctCttgcaggcttccaggtccca	4	10	14	13	1	1	0	0	0	1	0	4	0	3	0	2	5	3	7	2	5	0	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.510G>T	p.Lys170Asn	p.K170N	ENST00000311787	2/2	266	204	62	392	392	0	strelka-varscan-mutect	FAM170B,missense_variant,p.Lys170Asn,ENST00000311787,NM_001164484.1;FAM170B-AS1,intron_variant,,ENST00000442525,;FAM170B-AS1,intron_variant,,ENST00000443389,;FAM170B-AS1,intron_variant,,ENST00000435809,;	A	ENST00000311787	Transcript	missense_variant	600/1401	510/852	170/283	K/N	aaG/aaT		1		-1	FAM170B	HGNC	HGNC:19736	protein_coding	YES	CCDS53536.1	ENSP00000308292	A6NMN3		UPI00001C1ED8	NM_001164484.1	tolerated(0.09)		2/2		hmmpanther:PTHR33517,hmmpanther:PTHR33517:SF2																	MODERATE	1	SNV	1			1										PASS		rs1175942636	.												A	3	1	77	49131955	49131955	C	A	1	0	0	0	0	1	0	0	0	5336	912	32	2		2	FAM170B	10	49131955	Missense_Mutation	SNP	C	C3N-01414_TP	345248	49131955	84665467	282	24988											
HERC4	0	.	GRCh38	chr10	68025678	68025678	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtaaacactccaccttccTaaaaaaagacaaaacccctt	19	7	2	13	0	0	1	0	0	0	1	2	1	2	1	5	0	2	1	5	0	9	4	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.778-2A>T		p.X260_splice	ENST00000395198		95	80	15	163	163	0	strelka-mutect	HERC4,splice_acceptor_variant,,ENST00000395198,NM_022079.2;HERC4,splice_acceptor_variant,,ENST00000277817,;HERC4,splice_acceptor_variant,,ENST00000412272,NM_001278185.1;HERC4,splice_acceptor_variant,,ENST00000373700,NM_015601.3,NM_001278186.1;HERC4,splice_acceptor_variant,,ENST00000427635,;HERC4,splice_acceptor_variant,,ENST00000473533,;	A	ENST00000395198	Transcript	splice_acceptor_variant	-/4445	778/3174	260/1057				1		-1	HERC4	HGNC	HGNC:24521	protein_coding	YES	CCDS41533.1	ENSP00000378624	Q5GLZ8		UPI00004C6F56	NM_022079.2				7/25																		HIGH	1	SNV	1			1										PASS		rs3834396	.												A	5	1	77	68025678	68025678	T	A	1	0	0	0	0	0	0	1	0	6944	1536	53	4		4	HERC4	10	68025678	Splice_Site	SNP	T	C3N-01414_TP	18893723	68025678	65771744	283	24989											
PSAP	0	.	GRCh38	chr10	71834380	71834380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcggcactcaccactgttgGcttgttccaaacggtctgca	8	10	10	13	2	2	0	1	0	1	0	3	0	3	0	2	3	3	5	2	3	1	3	rs754702748		C3N-01414_TP	C3N-01414_NB	G	G																c.166C>A	p.Pro56Thr	p.P56T	ENST00000394936	2/14	356	334	22	557	556	1	strelka-varscan-mutect	PSAP,missense_variant,p.Pro56Thr,ENST00000394936,NM_002778.2,NM_001042465.1,NM_001042466.1;PSAP,missense_variant,p.Pro56Thr,ENST00000394934,;PSAP,missense_variant,p.Pro56Thr,ENST00000610929,;	T	ENST00000394936	Transcript	missense_variant	320/2872	166/1575	56/524	P/T	Cca/Aca	rs754702748	1		-1	PSAP	HGNC	HGNC:9498	protein_coding	YES	CCDS7311.1	ENSP00000378394	P07602	A0A024QZQ2	UPI0000000DBF	NM_002778.2,NM_001042465.1,NM_001042466.1	deleterious(0)		2/14		PROSITE_profiles:PS51110,hmmpanther:PTHR11480,hmmpanther:PTHR11480:SF36,PIRSF_domain:PIRSF002431,Prints_domain:PR01797																	MODERATE	1	SNV	1			1										PASS		rs754702748	.												T	3	4	77	71834380	71834380	G	T	1	0	0	0	0	1	0	0	0	12793	1203	42	2		2	PSAP	10	71834380	Missense_Mutation	SNP	G	C3N-01414_TP	3808702	71834380	61963042	284	24990											
FAM149B1	0	.	GRCh38	chr10	73235205	73235205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgcagaaaccccatggcGactctagtcgagctcaaagt	11	8	9	13	2	3	1	1	0	2	1	4	3	3	1	2	1	3	2	2	1	3	1	rs571636458		C3N-01414_TP	C3N-01414_NB	G	G																c.1489G>A	p.Asp497Asn	p.D497N	ENST00000242505	12/14	182	167	15	281	281	0	strelka-varscan-mutect	FAM149B1,missense_variant,p.Asp497Asn,ENST00000242505,NM_173348.1;FAM149B1,missense_variant,p.Asp430Asn,ENST00000372955,;FAM149B1,intron_variant,,ENST00000445951,;FAM149B1,non_coding_transcript_exon_variant,,ENST00000470798,;DNAJC9,intron_variant,,ENST00000469143,;FAM149B1,downstream_gene_variant,,ENST00000607940,;DNAJC9,downstream_gene_variant,,ENST00000453189,;FAM149B1,3_prime_UTR_variant,,ENST00000475829,;FAM149B1,non_coding_transcript_exon_variant,,ENST00000468462,;FAM149B1,non_coding_transcript_exon_variant,,ENST00000466261,;	A	ENST00000242505	Transcript	missense_variant	1663/5408	1489/1749	497/582	D/N	Gac/Aac	rs571636458,COSM1206129	1		1	FAM149B1	HGNC	HGNC:29162	protein_coding	YES	CCDS44435.1	ENSP00000242505	Q96BN6		UPI00001617A8	NM_173348.1	tolerated(0.7)		12/14		hmmpanther:PTHR31997,hmmpanther:PTHR31997:SF0											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs571636458	.												A	3	1	77	73235205	73235205	G	A	1	0	0	0	0	1	0	0	0	5305	1058	37	1		1	FAM149B1	10	73235205	Missense_Mutation	SNP	G	C3N-01414_TP	1400825	73235205	60562217	285	24991											
LRIT2	0	.	GRCh38	chr10	84224869	84224869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcacggaacgctgtccatGgtactgagcagagcttgttc	8	10	13	10	2	0	2	0	1	0	1	2	3	1	3	1	3	4	6	1	3	2	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.356C>A	p.Pro119Gln	p.P119Q	ENST00000538192	2/4	297	226	71	446	446	0	strelka-varscan-mutect	LRIT2,missense_variant,p.Pro119Gln,ENST00000538192,NM_001284223.1;LRIT2,missense_variant,p.Pro119Gln,ENST00000372113,NM_001017924.3;	T	ENST00000538192	Transcript	missense_variant	425/3177	356/1683	119/560	P/Q	cCa/cAa		1		-1	LRIT2	HGNC	HGNC:23443	protein_coding	YES	CCDS60581.1	ENSP00000438264	A6NDA9		UPI000189A8DA	NM_001284223.1	deleterious(0)		2/4		PROSITE_profiles:PS51450,hmmpanther:PTHR24365:SF93,hmmpanther:PTHR24365,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	84224869	84224869	G	T	1	0	0	0	0	1	0	0	0	8843	1348	47	2		2	LRIT2	10	84224869	Missense_Mutation	SNP	G	C3N-01414_TP	10989664	84224869	49572553	286	24992											
TNKS2	0	.	GRCh38	chr10	91840636	91840636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccacttcattttgcagctGggtataacagagtgtccgtg	9	12	10	10	1	1	1	1	0	0	1	2	1	2	1	2	1	3	3	2	1	2	5	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1603G>T	p.Gly535Trp	p.G535W	ENST00000371627	14/27	202	162	40	368	367	1	strelka-varscan-mutect	TNKS2,missense_variant,p.Gly535Trp,ENST00000371627,NM_025235.3;	T	ENST00000371627	Transcript	missense_variant	1982/6157	1603/3501	535/1166	G/W	Ggg/Tgg		1		1	TNKS2	HGNC	HGNC:15677	protein_coding	YES	CCDS7417.1	ENSP00000360689	Q9H2K2		UPI00000362BE	NM_025235.3	deleterious(0.03)		14/27		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24180,hmmpanther:PTHR24180:SF11,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	91840636	91840636	G	T	1	0	0	0	0	1	0	0	0	16794	1348	47	2		2	TNKS2	10	91840636	Missense_Mutation	SNP	G	C3N-01414_TP	7615767	91840636	41956786	287	24993											
CYP2C18	0	.	GRCh38	chr10	94735439	94735439	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagctctgcttcattcctGtctgaagaagggcagatagt	10	11	10	10	0	3	3	1	1	2	2	4	3	4	3	2	1	2	3	2	1	3	3	rs764785028		C3N-01414_TP	C3N-01414_NB	G	G																c.1468G>C	p.Val490Leu	p.V490L	ENST00000285979	9/9	134	105	29	186	186	0	strelka-varscan-mutect	CYP2C18,missense_variant,p.Val490Leu,ENST00000285979,NM_000772.2;CYP2C18,missense_variant,p.Val431Leu,ENST00000339022,NM_001128925.1;RP11-400G3.5,intron_variant,,ENST00000464755,;	C	ENST00000285979	Transcript	missense_variant	1667/2418	1468/1473	490/490	V/L	Gtc/Ctc	rs764785028	1		1	CYP2C18	HGNC	HGNC:2620	protein_coding	YES	CCDS7435.1	ENSP00000285979	P33260		UPI000013DE1D	NM_000772.2	tolerated_low_confidence(0.11)		9/9		hmmpanther:PTHR24300:SF123,hmmpanther:PTHR24300																	MODERATE	1	SNV	1			1										PASS		rs764785028	.												C	3	2	77	94735439	94735439	G	C	1	0	0	0	0	1	0	0	0	3968	1377	48	4		4	CYP2C18	10	94735439	Missense_Mutation	SNP	G	C3N-01414_TP	2894803	94735439	39061983	288	24994											
SORBS1	0	.	GRCh38	chr10	95339134	95339134	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgagaagcttagataccTgtgggcttgcagtggcactg	9	10	14	8	1	0	3	0	1	0	2	0	4	0	3	1	2	3	4	1	2	3	3	rs755805022		C3N-01414_TP	C3N-01414_NB	T	T																c.2864A>T	p.Gln955Leu	p.Q955L	ENST00000371247	29/33	41	32	9	82	81	1	strelka-varscan-mutect	SORBS1,missense_variant,p.Gln955Leu,ENST00000371247,;SORBS1,missense_variant,p.Gln909Leu,ENST00000371227,NM_001290294.1;SORBS1,missense_variant,p.Gln977Leu,ENST00000371246,;SORBS1,missense_variant,p.Gln737Leu,ENST00000371249,NM_015385.3;SORBS1,missense_variant,p.Gln702Leu,ENST00000306402,NM_024991.2,NM_001290295.1;SORBS1,missense_variant,p.Gln1215Leu,ENST00000607232,;SORBS1,missense_variant,p.Gln955Leu,ENST00000361941,NM_001034954.1;SORBS1,missense_variant,p.Gln977Leu,ENST00000277982,NM_001034955.1;SORBS1,missense_variant,p.Gln925Leu,ENST00000354106,NM_001290296.1,NM_001290298.1;SORBS1,missense_variant,p.Gln806Leu,ENST00000371245,NM_001034956.1;SORBS1,missense_variant,p.Gln732Leu,ENST00000371239,NM_001290297.1;SORBS1,missense_variant,p.Gln605Leu,ENST00000371241,NM_006434.2,NM_001034957.1;SORBS1,missense_variant,p.Gln428Leu,ENST00000634504,;SORBS1,downstream_gene_variant,,ENST00000371228,;SORBS1,downstream_gene_variant,,ENST00000474353,;	A	ENST00000371247	Transcript	missense_variant,splice_region_variant	3054/7354	2864/3879	955/1292	Q/L	cAg/cTg	rs755805022	1		-1	SORBS1	HGNC	HGNC:14565	protein_coding	YES	CCDS31255.1	ENSP00000360293	Q9BX66		UPI000013D6B7		deleterious(0)		29/33		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF202																	MODERATE	1	SNV	5			1										PASS		rs755805022	.												A	3	1	77	95339134	95339134	T	A	1	0	0	0	0	1	0	0	0	15249	1594	55	4		4	SORBS1	10	95339134	Missense_Mutation	SNP	T	C3N-01414_TP	603695	95339134	38458288	289	24995											
CPN1	0	.	GRCh38	chr10	100069755	100069755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggggcaggtggtggttggGgcctccgtacttctcgttat	5	12	16	8	2	1	0	0	0	1	0	3	0	2	0	2	7	1	4	2	7	3	4	rs754172095		C3N-01414_TP	C3N-01414_NB	G	G																c.535C>A	p.Pro179Thr	p.P179T	ENST00000370418	3/9	344	244	100	488	487	1	strelka-varscan-mutect	CPN1,missense_variant,p.Pro179Thr,ENST00000370418,NM_001308.2;CPN1,upstream_gene_variant,,ENST00000441382,;	T	ENST00000370418	Transcript	missense_variant	787/1863	535/1377	179/458	P/T	Ccc/Acc	rs754172095	1		-1	CPN1	HGNC	HGNC:2312	protein_coding	YES	CCDS7486.1	ENSP00000359446	P15169		UPI00000012AC	NM_001308.2	tolerated(0.07)		3/9		hmmpanther:PTHR11532:SF7,hmmpanther:PTHR11532,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		rs754172095	.												T	3	4	77	100069755	100069755	G	T	1	0	0	0	0	1	0	0	0	3604	1232	43	2		2	CPN1	10	100069755	Missense_Mutation	SNP	G	C3N-01414_TP	4730621	100069755	33727667	290	24996											
EBF3	0	.	GRCh38	chr10	129963705	129963705	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaccgggttcatgccgcTgcccagcggctcctccttca	4	8	11	18	4	2	0	2	0	0	0	4	0	4	0	5	2	3	4	5	2	0	2	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.64A>T	p.Ser22Cys	p.S22C	ENST00000368648	1/16	284	233	51	399	399	0	strelka-varscan-mutect	EBF3,missense_variant,p.Ser22Cys,ENST00000368648,NM_001005463.2;EBF3,missense_variant,p.Ser22Cys,ENST00000355311,;	A	ENST00000368648	Transcript	missense_variant	137/4375	64/1656	22/551	S/C	Agc/Tgc		1		-1	EBF3	HGNC	HGNC:19087	protein_coding	YES	CCDS31314.1	ENSP00000357637	Q9H4W6		UPI000002A6FB	NM_001005463.2	deleterious_low_confidence(0)		1/16		Pfam_domain:PF16422,hmmpanther:PTHR10747																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	129963705	129963705	T	A	1	0	0	0	0	1	0	0	0	4706	1580	55	4		4	EBF3	10	129963705	Missense_Mutation	SNP	T	C3N-01414_TP	29893950	129963705	3833717	291	24997											
CFAP46	0	.	GRCh38	chr10	132814907	132814907	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttccctcctttttcacGccaccttctgttgaagacaa	7	15	4	15	1	3	2	1	1	2	1	5	2	5	2	4	0	0	1	4	0	2	6	rs777783771		C3N-01414_TP	C3N-01414_NB	G	G																c.7125C>A	p.=	p.G2375G	ENST00000368586	51/58	158	127	31	235	233	2	strelka-varscan-mutect	CFAP46,synonymous_variant,p.=,ENST00000368586,NM_001200049.2;	T	ENST00000368586	Transcript	synonymous_variant	7226/8278	7125/8148	2375/2715	G	ggC/ggA	rs777783771,COSM3769008,COSM3769009	1		-1	CFAP46	HGNC	HGNC:25247	protein_coding	YES	CCDS58101.1	ENSP00000357575	Q8IYW2		UPI0001B79116	NM_001200049.2			51/58		Low_complexity_(Seg):seg											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs777783771	.												T	2	4	77	132814907	132814907	G	T	1	0	0	0	0	0	0	0	1	3021	1074	38	1		1	CFAP46	10	132814907	Silent	SNP	G	C3N-01414_TP	2851202	132814907	982515	292	24998											
VENTX	0	.	GRCh38	chr10	133238070	133238070	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcccaggccagacatcCggcgcccgggagccccctca	6	3	12	20	3	1	1	1	0	0	1	2	2	2	2	7	4	1	0	7	4	0	0	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.156C>A	p.=	p.S52S	ENST00000325980	1/3	194	151	43	228	228	0	strelka-varscan-mutect	VENTX,synonymous_variant,p.=,ENST00000325980,NM_014468.3;	A	ENST00000325980	Transcript	synonymous_variant	667/2911	156/777	52/258	S	tcC/tcA		1		1	VENTX	HGNC	HGNC:13639	protein_coding	YES	CCDS7675.1	ENSP00000357556	O95231		UPI0000070A25	NM_014468.3			1/3																			LOW	1	SNV	1			1										PASS		rs749870314	.												A	2	1	77	133238070	133238070	C	A	1	0	0	0	0	0	0	0	1	17699	639	23	1		1	VENTX	10	133238070	Silent	SNP	C	C3N-01414_TP	423163	133238070	559352	293	24999											
MUC5AC	0	.	GRCh38	chr11	1163908	1163908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgacacccatggaattcGggaacctgcagaagatggac	13	6	12	10	1	0	3	0	1	0	2	1	6	0	6	2	3	3	2	2	3	3	1	rs775060592		C3N-01414_TP	C3N-01414_NB	G	G																c.706G>T	p.Gly236Trp	p.G236W	ENST00000621226	7/49	260	174	86	368	367	1	strelka-varscan-mutect	MUC5AC,missense_variant,p.Gly236Trp,ENST00000621226,NM_001304359.1;	T	ENST00000621226	Transcript	missense_variant	753/17448	706/16965	236/5654	G/W	Ggg/Tgg	rs775060592	1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	deleterious(0)		7/49		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF291																	MODERATE	1	SNV	5			1										PASS		rs775060592	.												T	3	4	77	1163908	1163908	G	T	1	0	0	0	0	1	0	0	0	9978	1116	39	1		1	MUC5AC	11	1163908	Missense_Mutation	SNP	G	C3N-01414_TP		1163908	133922714	294	25000											
MUC5B	0	.	GRCh38	chr11	1225734	1225734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcagggcacaccatggatGgcggtatgtggccaggttcg	8	8	16	9	2	0	0	0	0	0	0	1	1	0	1	2	6	1	4	2	6	1	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.124G>A	p.Gly42Ser	p.G42S	ENST00000529681	2/49	101	71	30	140	140	0	strelka-varscan-mutect	MUC5B,missense_variant,p.Gly42Ser,ENST00000529681,NM_002458.2;MUC5B,non_coding_transcript_exon_variant,,ENST00000525715,;MUC5B,upstream_gene_variant,,ENST00000531082,;	A	ENST00000529681	Transcript	missense_variant	182/17911	124/17289	42/5762	G/S	Ggc/Agc		1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2	tolerated(0.39)		2/49																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	77	1225734	1225734	G	A	1	0	0	0	0	1	0	0	0	9979	1362	47	3		3	MUC5B	11	1225734	Missense_Mutation	SNP	G	C3N-01414_TP	61826	1225734	133860888	295	25001											
MUC5B	0	.	GRCh38	chr11	1232461	1232461	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccacagagaactacgccCggcactggtgctcgcgcctg	7	6	11	17	4	0	1	0	0	0	1	2	2	1	1	4	2	3	2	4	2	2	1	rs56411917		C3N-01414_TP	C3N-01414_NB	C	C																c.1855C>A	p.=	p.R619R	ENST00000529681	16/49	140	100	40	192	192	0	strelka-varscan-mutect	MUC5B,synonymous_variant,p.=,ENST00000529681,NM_002458.2;MUC5B,non_coding_transcript_exon_variant,,ENST00000525715,;MUC5B,downstream_gene_variant,,ENST00000531082,;	A	ENST00000529681	Transcript	synonymous_variant	1913/17911	1855/17289	619/5762	R	Cgg/Agg	rs56411917	1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2			16/49		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF269,SMART_domains:SM00832																	LOW	1	SNV	5			1										PASS		rs56411917	.												A	2	1	77	1232461	1232461	C	A	1	0	0	0	0	0	0	0	1	9979	643	23	1		1	MUC5B	11	1232461	Silent	SNP	C	C3N-01414_TP	6727	1232461	133854161	296	25002											
MUC5B	0	.	GRCh38	chr11	1250376	1250376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccaaagccactccctcctCcagtccagggactgcaactg	9	7	7	18	0	0	0	0	0	0	0	5	1	5	1	6	1	3	1	6	1	2	0			C3N-01414_TP	C3N-01414_NB	C	C																c.13496C>G	p.Ser4499Cys	p.S4499C	ENST00000529681	31/49	613	550	63	772	772	0	strelka-varscan-mutect	MUC5B,missense_variant,p.Ser4499Cys,ENST00000529681,NM_002458.2;RP11-532E4.2,upstream_gene_variant,,ENST00000532061,;	G	ENST00000529681	Transcript	missense_variant	13554/17911	13496/17289	4499/5762	S/C	tCc/tGc	COSM3967404,COSM3967405	1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2	deleterious(0.02)		31/49		Low_complexity_(Seg):seg											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												G	3	3	77	1250376	1250376	C	G	1	0	0	0	0	1	0	0	0	9979	855	30	4		4	MUC5B	11	1250376	Missense_Mutation	SNP	C	C3N-01414_TP	17915	1250376	133836246	297	25003											
OR51S1	0	.	GRCh38	chr11	4848685	4848685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacctgtgggaggcagtagGgcatgtaggccagcaggaat	10	6	18	7	0	0	0	0	0	0	0	0	3	0	3	2	6	1	5	2	6	3	2			C3N-01414_TP	C3N-01414_NB	G	G																c.524C>A	p.Pro175His	p.P175H	ENST00000322101	1/1	146	110	36	178	178	0	strelka-varscan-mutect	OR51S1,missense_variant,p.Pro175His,ENST00000322101,NM_001004758.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	T	ENST00000322101	Transcript	missense_variant	524/972	524/972	175/323	P/H	cCc/cAc	COSM3448151	1		-1	OR51S1	HGNC	HGNC:15204	protein_coding	YES	CCDS31362.1	ENSP00000322754	Q8NGJ8	A0A126GWN3	UPI0000041C33	NM_001004758.1	tolerated(0.12)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF73,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											1						MODERATE		SNV			1	1										PASS		.	.												T	3	4	77	4848685	4848685	G	T	1	0	0	0	0	1	0	0	0	11179	1232	43	2		2	OR51S1	11	4848685	Missense_Mutation	SNP	G	C3N-01414_TP	3598309	4848685	130237937	298	25004											
OR52J3	0	.	GRCh38	chr11	5046884	5046884	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaggtcttactggctaTggcttttgaccgttatgtgg	5	15	14	7	1	1	2	0	2	1	0	1	2	1	2	1	5	1	4	1	5	3	5	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.359T>C	p.Met120Thr	p.M120T	ENST00000380370	1/1	191	121	70	265	265	0	strelka-varscan-mutect	OR52J3,missense_variant,p.Met120Thr,ENST00000380370,NM_001001916.2;	C	ENST00000380370	Transcript	missense_variant	359/936	359/936	120/311	M/T	aTg/aCg		1		1	OR52J3	HGNC	HGNC:14799	protein_coding	YES	CCDS31370.1	ENSP00000369728	Q8NH60		UPI0000046AE0	NM_001001916.2	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF9,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	77	5046884	5046884	T	C	1	0	0	0	0	1	0	0	0	11195	1464	51	5		5	OR52J3	11	5046884	Missense_Mutation	SNP	T	C3N-01414_TP	198199	5046884	130039738	299	25005											
OR51V1	0	.	GRCh38	chr11	5200221	5200221	+	Missense_Mutation	SNP	C	C	A																															ggtgtaataaagaaaaaactCctacctattatagtgagccc																								rs867904279		C3N-01414_TP	C3N-01414_NB	C	C																c.480G>T	p.Arg160Ser	p.R160S	ENST00000321255	1/1	325	263	62	466	465	1	strelka-varscan-mutect	OR51V1,missense_variant,p.Arg160Ser,ENST00000321255,NM_001004760.2;AC104389.16,upstream_gene_variant,,ENST00000418080,;	A	ENST00000321255	Transcript	missense_variant	480/966	480/966	160/321	R/S	agG/agT	rs867904279,COSM3448542	1		-1	OR51V1	HGNC	HGNC:19597	protein_coding	YES	CCDS31375.1	ENSP00000321729	Q9H2C8		UPI0000140ADA	NM_001004760.2	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF67,Superfamily_domains:SSF81321											0,1						MODERATE		SNV			0,1	1										PASS		rs867904279	.												A	3	1	77	5200221	5200221	C	A	1	0	0	0	0	1	0	0	0	11181	854	30	2		2	OR51V1	11	5200221	Missense_Mutation	SNP	C	C3N-01414_TP	153337	5200221	129886401	300	25006	524	2									
OR51V1	0	.	GRCh38	chr11	5200222	5200222	+	Missense_Mutation	SNP	C	C	G																															gtgtaataaagaaaaaactcCtacctattatagtgagccca																								novel		C3N-01414_TP	C3N-01414_NB	C	C																c.479G>C	p.Arg160Thr	p.R160T	ENST00000321255	1/1	325	266	59	466	466	0	strelka-varscan-mutect	OR51V1,missense_variant,p.Arg160Thr,ENST00000321255,NM_001004760.2;AC104389.16,upstream_gene_variant,,ENST00000418080,;	G	ENST00000321255	Transcript	missense_variant	479/966	479/966	160/321	R/T	aGg/aCg		1		-1	OR51V1	HGNC	HGNC:19597	protein_coding	YES	CCDS31375.1	ENSP00000321729	Q9H2C8		UPI0000140ADA	NM_001004760.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF67,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												G	3	3	77	5200222	5200222	C	G	1	0	0	0	0	1	0	0	0	11181	681	24	4		4	OR51V1	11	5200222	Missense_Mutation	SNP	C	C3N-01414_TP	1	5200222	129886400	301	25007	524	2									
UBQLNL	0	.	GRCh38	chr11	5516414	5516414	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccactctgggacatccTggatgttcgagagatggcat	10	10	11	10	1	1	1	0	0	1	1	4	5	3	3	2	3	0	2	2	3	0	1	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.28A>T	p.Arg10Trp	p.R10W	ENST00000380184	1/1	92	69	23	113	113	0	strelka-varscan-mutect	UBQLNL,missense_variant,p.Arg10Trp,ENST00000380184,NM_145053.4;HBG2,intron_variant,,ENST00000380259,;OLFM5P,downstream_gene_variant,,ENST00000411807,;	A	ENST00000380184	Transcript	missense_variant	292/2313	28/1428	10/475	R/W	Agg/Tgg		1		-1	UBQLNL	HGNC	HGNC:28294	protein_coding	YES	CCDS31385.1	ENSP00000369531	Q8IYU4		UPI000066D8EC	NM_145053.4	deleterious(0)		1/1		Superfamily_domains:SSF54236																	MODERATE		SNV				1										PASS		.	.												A	3	1	77	5516414	5516414	T	A	1	0	0	0	0	1	0	0	0	17424	1579	55	4		4	UBQLNL	11	5516414	Missense_Mutation	SNP	T	C3N-01414_TP	316192	5516414	129570208	302	25008											
OR56A5	0	.	GRCh38	chr11	5967633	5967633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacaatggggttcagagctgGgggaataaggtggtgcagga	12	7	18	4	0	1	1	1	0	0	1	1	3	1	3	0	7	3	3	0	7	4	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.862C>T	p.Pro288Ser	p.P288S	ENST00000532411	1/1	148	107	41	253	253	0	strelka-varscan-mutect	OR56A5,missense_variant,p.Pro288Ser,ENST00000532411,NM_001146033.1;OR56A5,missense_variant,p.Pro220Ser,ENST00000340110,;	A	ENST00000532411	Transcript	missense_variant	862/942	862/942	288/313	P/S	Cca/Tca		1		-1	OR56A5	HGNC	HGNC:14792	protein_coding	YES	CCDS73248.1	ENSP00000481594	P0C7T3	A0A126GWP3	UPI00006C10F9	NM_001146033.1	deleterious(0.04)		1/1		Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF60,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	77	5967633	5967633	G	A	1	0	0	0	0	1	0	0	0	11208	1232	43	3		3	OR56A5	11	5967633	Missense_Mutation	SNP	G	C3N-01414_TP	451219	5967633	129118989	303	25009											
CCKBR	0	.	GRCh38	chr11	6270698	6270698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgggtgtggttatggccGtggcctacgggcttatctct	3	13	14	11	3	1	0	0	0	1	0	3	0	2	0	3	5	1	2	3	5	3	3			C3N-01414_TP	C3N-01414_NB	G	G																c.706G>A	p.Val236Met	p.V236M	ENST00000334619	4/5	85	76	9	146	146	0	strelka-varscan-mutect	CCKBR,missense_variant,p.Val236Met,ENST00000525462,;CCKBR,missense_variant,p.Val236Met,ENST00000334619,NM_176875.3;CCKBR,missense_variant,p.Val152Met,ENST00000532715,;CCKBR,downstream_gene_variant,,ENST00000525014,;CCKBR,downstream_gene_variant,,ENST00000531712,;CCKBR,upstream_gene_variant,,ENST00000532396,;	A	ENST00000334619	Transcript	missense_variant	899/2121	706/1344	236/447	V/M	Gtg/Atg	COSM179422,COSM290358	1		1	CCKBR	HGNC	HGNC:1571	protein_coding	YES	CCDS7761.1	ENSP00000335544	P32239		UPI0000000C18	NM_176875.3	tolerated(0.05)		4/5		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF45,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	77	6270698	6270698	G	A	1	0	0	0	0	1	0	0	0	2579	1145	40	1		1	CCKBR	11	6270698	Missense_Mutation	SNP	G	C3N-01414_TP	303065	6270698	128815924	304	25010											
OR2AG1	0	.	GRCh38	chr11	6785287	6785287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcactcccaaggcccttgcgGactttctgcgcagagaaaac	10	8	9	14	2	2	1	1	0	1	1	3	3	3	2	2	2	3	1	2	2	3	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.250G>A	p.Asp84Asn	p.D84N	ENST00000307401	1/1	169	114	55	281	281	0	strelka-varscan-mutect	OR2AG1,missense_variant,p.Asp84Asn,ENST00000307401,NM_001004489.2;	A	ENST00000307401	Transcript	missense_variant	271/998	250/951	84/316	D/N	Gac/Aac		1		1	OR2AG1	HGNC	HGNC:15142	protein_coding	YES	CCDS31414.1	ENSP00000307447	Q9H205	A0A126GVD0	UPI00000015AF	NM_001004489.2	tolerated(0.11)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF267,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	77	6785287	6785287	G	A	1	0	0	0	0	1	0	0	0	11061	1174	41	3		3	OR2AG1	11	6785287	Missense_Mutation	SNP	G	C3N-01414_TP	514589	6785287	128301335	305	25011											
ZNF214	0	.	GRCh38	chr11	7000897	7000897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtttcttggatgtctataCaagtctgatctctgagagaa	10	15	10	6	0	4	3	0	2	4	1	5	5	4	4	0	2	1	1	0	2	4	4	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.786G>T	p.Leu262Phe	p.L262F	ENST00000278314	3/3	199	149	50	241	240	1	strelka-varscan-mutect	ZNF214,missense_variant,p.Leu262Phe,ENST00000278314,NM_013249.2;ZNF214,missense_variant,p.Leu262Phe,ENST00000536068,;ZNF214,downstream_gene_variant,,ENST00000531083,;ZNF215,3_prime_UTR_variant,,ENST00000636606,;	A	ENST00000278314	Transcript	missense_variant	1102/2681	786/1821	262/606	L/F	ttG/ttT		1		-1	ZNF214	HGNC	HGNC:13006	protein_coding	YES	CCDS31418.1	ENSP00000278314	Q9UL59		UPI000013DB6B	NM_013249.2	tolerated(0.23)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF54,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	7000897	7000897	C	A	1	0	0	0	0	1	0	0	0	18347	477	17	2		2	ZNF214	11	7000897	Missense_Mutation	SNP	C	C3N-01414_TP	215610	7000897	128085725	306	25012											
NLRP14	0	.	GRCh38	chr11	7049793	7049794	+	Frame_Shift_Del	DEL	TG	TG	-																															ggataatggagtaaagtcatTgtgtgaggccttgaaacacc																								novel		C3N-01414_TP	C3N-01414_NB	TG	TG																c.2250_2251delTG	p.Cys750Ter	p.C750*	ENST00000299481	6/12	358	242	116	479	479	0	sindel-varindel	NLRP14,frameshift_variant,p.Cys750Ter,ENST00000299481,NM_176822.3;	-	ENST00000299481	Transcript	frameshift_variant	2592-2593/3628	2246-2247/3282	749/1093	L/X	tTG/t		1		1	NLRP14	HGNC	HGNC:22939	protein_coding	YES	CCDS7776.1	ENSP00000299481	Q86W24		UPI0000167F6E	NM_176822.3			6/12		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF154,Pfam_domain:PF13516,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	HIGH	1	deletion	5	4		1										PASS		.	.												-	7	5	77	7049793	7049793	TG	-	1	0	1	0	1	0	0	0	0	10513	1821	63	0		0	NLRP14	11	7049793	Frame_Shift_Del	DEL	TG	C3N-01414_TP	48896	7049793	128036829	307	25013											
NLRP10	0	.	GRCh38	chr11	7959879	7959879	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atacattgttcatctgaataCcttttaccagattctttatt	11	19	3	8	0	3	2	1	1	2	1	3	2	3	2	2	0	3	1	2	0	5	10	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1733G>C	p.Gly578Ala	p.G578A	ENST00000328600	2/2	220	177	43	355	355	0	strelka-varscan-mutect	NLRP10,missense_variant,p.Gly578Ala,ENST00000328600,NM_176821.3;NLRP10,downstream_gene_variant,,ENST00000526590,;	G	ENST00000328600	Transcript	missense_variant	1895/2350	1733/1968	578/655	G/A	gGt/gCt		1		-1	NLRP10	HGNC	HGNC:21464	protein_coding	YES	CCDS7784.1	ENSP00000327763	Q86W26		UPI0000167F6C	NM_176821.3	tolerated(0.13)		2/2		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF142																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	77	7959879	7959879	C	G	1	0	0	0	0	1	0	0	0	10509	507	18	4		4	NLRP10	11	7959879	Missense_Mutation	SNP	C	C3N-01414_TP	910086	7959879	127126743	308	25014											
ST5	0	.	GRCh38	chr11	8712678	8712678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagctccagctccagcgtgCgatagctgggggcgcgcttc	5	7	15	14	4	0	0	0	0	0	0	3	1	2	0	2	2	5	5	2	2	1	2	rs779020998		C3N-01414_TP	C3N-01414_NB	C	C																c.2045G>A	p.Arg682His	p.R682H	ENST00000534127	12/23	136	129	7	177	177	0	strelka-varscan-mutect	ST5,missense_variant,p.Arg682His,ENST00000534127,NM_005418.3;ST5,missense_variant,p.Arg682His,ENST00000313726,NM_213618.1;ST5,missense_variant,p.Arg154His,ENST00000530991,;ST5,missense_variant,p.Arg262His,ENST00000526757,NM_139157.2;ST5,missense_variant,p.Arg262His,ENST00000530438,;ST5,missense_variant,p.Arg195His,ENST00000526099,;ST5,missense_variant,p.Arg154His,ENST00000533020,;ST5,missense_variant,p.Arg292His,ENST00000626808,;ST5,missense_variant,p.Arg154His,ENST00000528527,;ST5,missense_variant,p.Arg139His,ENST00000530593,;ST5,upstream_gene_variant,,ENST00000534278,;ST5,downstream_gene_variant,,ENST00000526057,;ST5,downstream_gene_variant,,ENST00000528196,;ST5,downstream_gene_variant,,ENST00000530580,;ST5,downstream_gene_variant,,ENST00000527510,;ST5,downstream_gene_variant,,ENST00000531060,;RPL27A,intron_variant,,ENST00000531102,;ST5,downstream_gene_variant,,ENST00000533425,;ST5,upstream_gene_variant,,ENST00000526837,;ST5,missense_variant,p.Arg292His,ENST00000532734,;ST5,missense_variant,p.Arg15His,ENST00000530338,;ST5,intron_variant,,ENST00000530559,;ST5,upstream_gene_variant,,ENST00000526701,;	T	ENST00000534127	Transcript	missense_variant	2431/4545	2045/3414	682/1137	R/H	cGc/cAc	rs779020998,COSM5485528	1		-1	ST5	HGNC	HGNC:11350	protein_coding	YES	CCDS7791.1	ENSP00000433528	P78524		UPI00001AECB8	NM_005418.3	tolerated(0.12)		12/23		hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF5											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs779020998	.												T	3	4	77	8712678	8712678	C	T	1	0	0	0	0	1	0	0	0	15598	768	27	1		1	ST5	11	8712678	Missense_Mutation	SNP	C	C3N-01414_TP	752799	8712678	126373944	309	25015											
INSC	0	.	GRCh38	chr11	15245942	15245942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagattggctggggtctgcCctgaaggcctccaggactct	6	10	14	11	0	2	2	0	1	2	1	3	3	3	3	3	5	1	2	3	5	2	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1642C>A	p.Pro548Thr	p.P548T	ENST00000379554	13/13	172	139	33	232	231	1	strelka-varscan-mutect	INSC,missense_variant,p.Pro548Thr,ENST00000379554,NM_001031853.4;INSC,missense_variant,p.Pro535Thr,ENST00000424273,NM_001278314.1;INSC,missense_variant,p.Pro501Thr,ENST00000379556,NM_001042536.2;INSC,missense_variant,p.Pro501Thr,ENST00000530161,NM_001278313.1;INSC,missense_variant,p.Pro459Thr,ENST00000525218,NM_001278316.1;INSC,3_prime_UTR_variant,,ENST00000528567,NM_001278315.1;INSC,non_coding_transcript_exon_variant,,ENST00000447214,;INSC,non_coding_transcript_exon_variant,,ENST00000526102,;	A	ENST00000379554	Transcript	missense_variant	1688/2954	1642/1740	548/579	P/T	Cct/Act		1		1	INSC	HGNC	HGNC:33116	protein_coding	YES	CCDS41621.1	ENSP00000368872	Q1MX18		UPI0000D63F1D	NM_001031853.4	deleterious(0.02)		13/13		hmmpanther:PTHR21386:SF0,hmmpanther:PTHR21386,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	15245942	15245942	C	A	1	0	0	0	0	1	0	0	0	7666	623	22	2		2	INSC	11	15245942	Missense_Mutation	SNP	C	C3N-01414_TP	6533264	15245942	119840680	310	25016											
SAA2	0	.	GRCh38	chr11	18245457	18245457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttattggcagcctgatCggccagcgagtcctccgcac	7	9	10	15	3	0	1	0	1	0	0	3	2	2	1	5	2	2	2	5	2	1	3	rs373197707		C3N-01414_TP	C3N-01414_NB	C	C																c.289G>T	p.Asp97Tyr	p.D97Y	ENST00000526900	4/4	217	179	38	343	343	0	strelka-varscan-mutect	SAA2,missense_variant,p.Asp97Tyr,ENST00000526900,;SAA2,missense_variant,p.Asp97Tyr,ENST00000529528,;SAA2,missense_variant,p.Asp97Tyr,ENST00000256733,NM_030754.4;SAA2,intron_variant,,ENST00000414546,NM_001127380.2;SAA2,intron_variant,,ENST00000528349,;SAA2-SAA4,intron_variant,,ENST00000524555,NM_001199744.1;SAA2,intron_variant,,ENST00000530400,;RNA5SP333,downstream_gene_variant,,ENST00000363466,;	A	ENST00000526900	Transcript	missense_variant	473/687	289/369	97/122	D/Y	Gat/Tat	rs373197707,COSM4031900	1		-1	SAA2	HGNC	HGNC:10514	protein_coding	YES	CCDS7833.1	ENSP00000436126	P0DJI9		UPI000016A553		deleterious(0)		4/4		hmmpanther:PTHR23424:SF7,hmmpanther:PTHR23424,PIRSF_domain:PIRSF002472,Pfam_domain:PF00277,SMART_domains:SM00197											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs373197707	.												A	3	1	77	18245457	18245457	C	A	1	0	0	0	0	1	0	0	0	14058	884	31	1		1	SAA2	11	18245457	Missense_Mutation	SNP	C	C3N-01414_TP	2999515	18245457	116841165	311	25017											
SLC6A5	0	.	GRCh38	chr11	20636307	20636307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atctgtcttgttccttccagGgccaggcattgcatttgtgg	5	15	11	10	0	2	0	0	0	2	0	4	0	4	0	3	3	1	3	3	3	0	5	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1625G>T	p.Gly542Val	p.G542V	ENST00000525748	11/16	503	333	170	573	573	0	strelka-varscan-mutect	SLC6A5,missense_variant,p.Gly542Val,ENST00000525748,NM_004211.3;SLC6A5,splice_region_variant,,ENST00000528440,;SLC6A5,splice_region_variant,,ENST00000298923,;	T	ENST00000525748	Transcript	missense_variant,splice_region_variant	1898/7084	1625/2394	542/797	G/V	gGg/gTg		1		1	SLC6A5	HGNC	HGNC:11051	protein_coding	YES	CCDS7854.1	ENSP00000434364	Q9Y345		UPI00004564A5	NM_004211.3	tolerated(0.07)		11/16		Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF158																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	20636307	20636307	G	T	1	0	0	0	0	1	0	0	0	14970	1246	43	2		2	SLC6A5	11	20636307	Missense_Mutation	SNP	G	C3N-01414_TP	2390850	20636307	114450315	312	25018											
ANO5	0	.	GRCh38	chr11	22250368	22250368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaatggaacataacacaaGcaggtaagtgcacctgagtt	16	8	9	8	0	1	1	1	1	0	0	1	2	1	2	1	2	4	4	1	2	5	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1010G>T	p.Ser337Ile	p.S337I	ENST00000324559	10/22	182	128	54	268	268	0	strelka-varscan-mutect	ANO5,missense_variant,p.Ser337Ile,ENST00000324559,NM_001142649.1,NM_213599.2;	T	ENST00000324559	Transcript	missense_variant	1327/6651	1010/2742	337/913	S/I	aGc/aTc		1		1	ANO5	HGNC	HGNC:27337	protein_coding	YES	CCDS31444.1	ENSP00000315371	Q75V66		UPI000035B19B	NM_001142649.1,NM_213599.2	tolerated(0.39)		10/22		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF23,Pfam_domain:PF04547																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	22250368	22250368	G	T	1	0	0	0	0	1	0	0	0	807	985	34	2		2	ANO5	11	22250368	Missense_Mutation	SNP	G	C3N-01414_TP	1614061	22250368	112836254	313	25019											
ANO5	0	.	GRCh38	chr11	22272935	22272935	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttctaaagctcatagcatAggtgtttggcaagacattct	11	13	9	8	0	3	1	1	0	2	1	3	1	3	1	0	2	2	5	0	2	5	6	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.2181A>T	p.=	p.I727I	ENST00000324559	19/22	330	246	84	483	483	0	strelka-varscan-mutect	ANO5,synonymous_variant,p.=,ENST00000324559,NM_001142649.1,NM_213599.2;ANO5,non_coding_transcript_exon_variant,,ENST00000532043,;	T	ENST00000324559	Transcript	synonymous_variant	2498/6651	2181/2742	727/913	I	atA/atT		1		1	ANO5	HGNC	HGNC:27337	protein_coding	YES	CCDS31444.1	ENSP00000315371	Q75V66		UPI000035B19B	NM_001142649.1,NM_213599.2			19/22		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF23,Pfam_domain:PF04547																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	77	22272935	22272935	A	T	1	0	0	0	0	0	0	0	1	807	410	15	4		4	ANO5	11	22272935	Silent	SNP	A	C3N-01414_TP	22567	22272935	112813687	314	25020											
SLC17A6	0	.	GRCh38	chr11	22374859	22374859	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aagcagattctttcaactacGacagtgagaaagatcatgaa	17	9	8	7	1	3	4	2	2	1	3	3	6	3	4	0	0	3	1	0	0	5	3	rs117003321		C3N-01414_TP	C3N-01414_NB	G	G																c.1146G>C	p.=	p.T382T	ENST00000263160	9/12	109	93	16	193	193	0	strelka-varscan-mutect	SLC17A6,synonymous_variant,p.=,ENST00000263160,NM_020346.2;	C	ENST00000263160	Transcript	synonymous_variant	1583/3949	1146/1749	382/582	T	acG/acC	rs117003321	1		1	SLC17A6	HGNC	HGNC:16703	protein_coding	YES	CCDS7856.1	ENSP00000263160	Q9P2U8		UPI0000073F14	NM_020346.2			9/12		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF201,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		rs117003321	.												C	2	2	77	22374859	22374859	G	C	1	0	0	0	0	0	0	0	1	14686	1045	37	4		4	SLC17A6	11	22374859	Silent	SNP	G	C3N-01414_TP	101924	22374859	112711763	315	25021											
METTL15	0	.	GRCh38	chr11	28330639	28330639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaataagcatgacagaaaGatttaacctaagtgttagac	17	10	9	5	0	0	4	0	1	0	3	0	5	0	5	1	1	2	2	1	1	6	5	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1022G>T	p.Arg341Ile	p.R341I	ENST00000407364	7/7	302	282	20	456	456	0	varscan-mutect	METTL15,missense_variant,p.Arg341Ile,ENST00000407364,NM_001113528.1;METTL15,3_prime_UTR_variant,,ENST00000406787,NM_001297775.1;METTL15,3_prime_UTR_variant,,ENST00000303459,NM_152636.2;METTL15,3_prime_UTR_variant,,ENST00000451385,;METTL15,intron_variant,,ENST00000532947,;METTL15,intron_variant,,ENST00000634973,;METTL15,intron_variant,,ENST00000634627,;METTL15,downstream_gene_variant,,ENST00000468295,;	T	ENST00000407364	Transcript	missense_variant	1374/4242	1022/1224	341/407	R/I	aGa/aTa		1		1	METTL15	HGNC	HGNC:26606	protein_coding	YES	CCDS44559.1	ENSP00000384369	A6NJ78		UPI0000DBEF34	NM_001113528.1	tolerated(0.07)		7/7		HAMAP:MF_01007,Pfam_domain:PF01795,hmmpanther:PTHR11265,hmmpanther:PTHR11265:SF0,TIGRFAM_domain:TIGR00006																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	77	28330639	28330639	G	T	1	0	0	0	0	1	0	0	0	9441	942	33	2		2	METTL15	11	28330639	Missense_Mutation	SNP	G	C3N-01414_TP	5955780	28330639	106755983	316	25022											
QSER1	0	.	GRCh38	chr11	32933898	32933898	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaggtcaagtaaaggcatcTttacaagcacagcgtgttca	13	11	9	8	1	3	0	2	0	1	0	3	0	3	0	0	2	3	4	0	2	6	5	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.2253T>G	p.=	p.S751S	ENST00000399302	4/13	182	139	43	239	238	1	strelka-varscan-mutect	QSER1,synonymous_variant,p.=,ENST00000399302,NM_001076786.2;QSER1,synonymous_variant,p.=,ENST00000527788,;QSER1,upstream_gene_variant,,ENST00000524678,;QSER1,downstream_gene_variant,,ENST00000528155,;QSER1,downstream_gene_variant,,ENST00000527250,;	G	ENST00000399302	Transcript	synonymous_variant	2588/9335	2253/5208	751/1735	S	tcT/tcG		1		1	QSER1	HGNC	HGNC:26154	protein_coding	YES	CCDS41631.1	ENSP00000382241	Q2KHR3		UPI0000E467AF	NM_001076786.2			4/13		hmmpanther:PTHR14709:SF2,hmmpanther:PTHR14709																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	77	32933898	32933898	T	G	1	0	0	0	0	0	0	0	1	13037	1596	56	5		5	QSER1	11	32933898	Silent	SNP	T	C3N-01414_TP	4603259	32933898	102152724	317	25023											
LMO2	0	.	GRCh38	chr11	33859550	33859550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatccgcttgtcacaggatgCgcagagaccgtcttgcccaa	10	8	10	13	3	2	1	1	0	1	1	3	3	3	2	3	1	2	2	3	1	2	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.490G>T	p.Ala164Ser	p.A164S	ENST00000257818	6/6	246	196	50	320	320	0	strelka-varscan-mutect	LMO2,missense_variant,p.Ala164Ser,ENST00000257818,NM_005574.3;LMO2,missense_variant,p.Ala95Ser,ENST00000395833,NM_001142315.1,NM_001142316.1;LMO2,3_prime_UTR_variant,,ENST00000411482,;LMO2,non_coding_transcript_exon_variant,,ENST00000464025,;	A	ENST00000257818	Transcript	missense_variant	1320/2294	490/684	164/227	A/S	Gca/Tca		1		-1	LMO2	HGNC	HGNC:6642	protein_coding	YES	CCDS7888.2	ENSP00000257818	P25791		UPI00001F9F84	NM_005574.3	tolerated(0.23)		6/6		PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF109,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		rs1194594724	.												A	3	1	77	33859550	33859550	C	A	1	0	0	0	0	1	0	0	0	8778	768	27	1		1	LMO2	11	33859550	Missense_Mutation	SNP	C	C3N-01414_TP	925652	33859550	101227072	318	25024											
CHST1	0	.	GRCh38	chr11	45650174	45650174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagccgccagagccggtaCgtgtcgcggaaggtctcgct	7	6	15	13	6	1	2	0	0	1	2	3	3	1	3	3	3	3	2	3	3	2	1	rs776340776		C3N-01414_TP	C3N-01414_NB	C	C																c.750G>A	p.=	p.T250T	ENST00000308064	4/4	250	210	40	241	241	0	strelka-varscan-mutect	CHST1,synonymous_variant,p.=,ENST00000308064,NM_003654.5;RP11-495O11.1,upstream_gene_variant,,ENST00000525563,;CHST1,upstream_gene_variant,,ENST00000533673,;CHST1,downstream_gene_variant,,ENST00000531322,;	T	ENST00000308064	Transcript	synonymous_variant	1421/2718	750/1236	250/411	T	acG/acA	rs776340776	1		-1	CHST1	HGNC	HGNC:1969	protein_coding	YES	CCDS7913.1	ENSP00000309270	O43916		UPI0000073EA0	NM_003654.5			4/4		hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF36,Pfam_domain:PF00685,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs776340776	.												T	2	4	77	45650174	45650174	C	T	1	0	0	0	0	0	0	0	1	3157	523	19	1		1	CHST1	11	45650174	Silent	SNP	C	C3N-01414_TP	11790624	45650174	89436448	319	25025											
PHF21A	0	.	GRCh38	chr11	46084197	46084197	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatttccactttaagagccTcctgtagagtctgcaactcc	10	12	7	12	0	1	2	0	0	1	2	4	3	4	2	4	0	3	2	4	0	4	4	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.23A>T	p.Glu8Val	p.E8V	ENST00000418153	3/18	194	154	40	330	330	0	strelka-varscan-mutect	PHF21A,missense_variant,p.Glu8Val,ENST00000323180,NM_016621.3;PHF21A,missense_variant,p.Glu8Val,ENST00000418153,NM_001101802.1;PHF21A,missense_variant,p.Glu8Val,ENST00000525438,;PHF21A,missense_variant,p.Glu8Val,ENST00000529734,;PHF21A,missense_variant,p.Glu8Val,ENST00000524497,;PHF21A,missense_variant,p.Glu8Val,ENST00000532010,;PHF21A,missense_variant,p.Glu8Val,ENST00000531959,;PHF21A,missense_variant,p.Glu8Val,ENST00000527782,;PHF21A,missense_variant,p.Glu8Val,ENST00000533757,;PHF21A,5_prime_UTR_variant,,ENST00000529782,;PHF21A,missense_variant,p.Glu8Val,ENST00000532883,;	A	ENST00000418153	Transcript	missense_variant	223/2730	23/2043	8/680	E/V	gAg/gTg		1		-1	PHF21A	HGNC	HGNC:24156	protein_coding	YES	CCDS44578.1	ENSP00000398824	Q96BD5		UPI000006E1CB	NM_001101802.1	deleterious(0)		3/18		hmmpanther:PTHR24102:SF6,hmmpanther:PTHR24102																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	77	46084197	46084197	T	A	1	0	0	0	0	1	0	0	0	11919	1551	54	4		4	PHF21A	11	46084197	Missense_Mutation	SNP	T	C3N-01414_TP	434023	46084197	89002425	320	25026											
LRP4	0	.	GRCh38	chr11	46899972	46899972	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgtcctcctcacactcccgGggggctgtgggcacagagca	6	7	13	15	2	1	1	1	0	0	1	5	1	4	1	3	4	1	3	3	4	0	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.321C>G	p.=	p.P107P	ENST00000378623	4/38	317	231	86	397	397	0	strelka-varscan-mutect	LRP4,synonymous_variant,p.=,ENST00000378623,NM_002334.3;LRP4,synonymous_variant,p.=,ENST00000534404,;	C	ENST00000378623	Transcript	synonymous_variant	564/8076	321/5718	107/1905	P	ccC/ccG		1		-1	LRP4	HGNC	HGNC:6696	protein_coding	YES	CCDS31478.1	ENSP00000367888	O75096		UPI0000D625E9	NM_002334.3			4/38		hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF249,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	77	46899972	46899972	G	C	1	0	0	0	0	0	0	0	1	8854	1246	43	4		4	LRP4	11	46899972	Silent	SNP	G	C3N-01414_TP	815775	46899972	88186650	321	25027											
MTCH2	0	.	GRCh38	chr11	47631704	47631704	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacgagcgatcatctctCgagttgtctagaaacaatca	14	9	8	10	3	4	2	2	0	2	2	6	5	4	2	0	0	3	1	0	0	4	2	rs144753500		C3N-01414_TP	C3N-01414_NB	C	C																c.377G>T	p.Arg126Leu	p.R126L	ENST00000302503	6/13	227	214	13	343	343	0	strelka-varscan-mutect	MTCH2,missense_variant,p.Arg126Leu,ENST00000302503,NM_001317231.1,NM_014342.3;MTCH2,missense_variant,p.Arg117Leu,ENST00000530428,;MTCH2,non_coding_transcript_exon_variant,,ENST00000533571,;MTCH2,intron_variant,,ENST00000525649,;MTCH2,intron_variant,,ENST00000539759,;MTCH2,upstream_gene_variant,,ENST00000534074,;	A	ENST00000302503	Transcript	missense_variant	535/2587	377/912	126/303	R/L	cGa/cTa	rs144753500,COSM3791530	1		-1	MTCH2	HGNC	HGNC:17587	protein_coding	YES	CCDS7943.1	ENSP00000303222	Q9Y6C9		UPI000006E280	NM_001317231.1,NM_014342.3	deleterious(0.04)		6/13		Superfamily_domains:0048588,Gene3D:1okcA00,PROSITE_profiles:PS50920,hmmpanther:PTHR10780,hmmpanther:PTHR10780:SF20											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs144753500	.												A	3	1	77	47631704	47631704	C	A	1	0	0	0	0	1	0	0	0	9899	884	31	1		1	MTCH2	11	47631704	Missense_Mutation	SNP	C	C3N-01414_TP	731732	47631704	87454918	322	25028											
OR4C12	0	.	GRCh38	chr11	49982202	49982202	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaaaaatgtgttctgcAtaggcttgagccatacaccc	12	9	8	12	0	1	1	0	1	1	0	1	1	1	1	3	1	3	4	3	1	4	4	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.300T>G	p.Tyr100Ter	p.Y100*	ENST00000335238	1/1	236	191	45	331	331	0	strelka-varscan-mutect	OR4C12,stop_gained,p.Tyr100Ter,ENST00000335238,NM_001005270.4;	C	ENST00000335238	Transcript	stop_gained	334/1063	300/930	100/309	Y/*	taT/taG		1		-1	OR4C12	HGNC	HGNC:15168	protein_coding	YES	CCDS31496.1	ENSP00000334418	Q96R67		UPI0000041E30	NM_001005270.4			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF353,Superfamily_domains:SSF81321																	HIGH	1	SNV				1										PASS		.	.												C	4	2	77	49982202	49982202	A	C	1	0	0	0	0	0	1	0	0	11123	224	8	5		5	OR4C12	11	49982202	Nonsense_Mutation	SNP	A	C3N-01414_TP	2350498	49982202	85104420	323	25029											
OR4C6	0	.	GRCh38	chr11	55665221	55665221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggtctcacagagaacCtggagctgtggaaaatattt	11	12	11	7	0	2	1	1	0	2	1	3	4	2	3	1	3	2	1	1	3	4	3	rs773362372		C3N-01414_TP	C3N-01414_NB	C	C																c.55C>A	p.Leu19Met	p.L19M	ENST00000314259	1/1	149	116	33	213	212	1	strelka-varscan-mutect	OR4C6,missense_variant,p.Leu19Met,ENST00000314259,NM_001004704.1;	A	ENST00000314259	Transcript	missense_variant	55/930	55/930	19/309	L/M	Ctg/Atg	rs773362372	1		1	OR4C6	HGNC	HGNC:14743	protein_coding	YES	CCDS31506.1	ENSP00000324769	Q8NH72	A0A126GVN0	UPI0000041868	NM_001004704.1	deleterious_low_confidence(0.03)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF80,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs773362372	.												A	3	1	77	55665221	55665221	C	A	1	0	0	0	0	1	0	0	0	11129	680	24	2		2	OR4C6	11	55665221	Missense_Mutation	SNP	C	C3N-01414_TP	5683019	55665221	79421401	324	25030											
OR5W2	0	.	GRCh38	chr11	55913719	55913719	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcctcaggctataaatCagggggttcaacatgggaac	11	11	11	8	0	3	0	3	0	0	0	4	1	4	1	1	4	2	3	1	4	5	5			C3N-01414_TP	C3N-01414_NB	C	C																c.864G>T	p.=	p.L288L	ENST00000344514	1/1	196	175	21	282	281	1	strelka-varscan-mutect	OR5W2,synonymous_variant,p.=,ENST00000344514,NM_001001960.1;	A	ENST00000344514	Transcript	synonymous_variant	864/933	864/933	288/310	L	ctG/ctT	COSM4818025	1		-1	OR5W2	HGNC	HGNC:15299	protein_coding	YES	CCDS31513.1	ENSP00000342448	Q8NH69		UPI0000061E8D	NM_001001960.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF58,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						LOW	1	SNV			1	1										PASS		rs1212274450	.												A	2	1	77	55913719	55913719	C	A	1	0	0	0	0	0	0	0	1	11253	813	29	2		2	OR5W2	11	55913719	Silent	SNP	C	C3N-01414_TP	248498	55913719	79172903	325	25031											
OR8H2	0	.	GRCh38	chr11	56105732	56105732	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcctgaaaattaattcCacttcaggaaagcagaaagc	17	8	6	10	0	1	2	1	1	0	1	3	3	3	3	3	1	2	1	3	1	5	3			C3N-01414_TP	C3N-01414_NB	C	C																c.690C>G	p.=	p.S230S	ENST00000313503	1/1	210	173	37	303	303	0	strelka-varscan-mutect	OR8H2,synonymous_variant,p.=,ENST00000618136,;OR8H2,synonymous_variant,p.=,ENST00000313503,NM_001005200.1;	G	ENST00000313503	Transcript	synonymous_variant	690/939	690/939	230/312	S	tcC/tcG	COSM1354570	1		1	OR8H2	HGNC	HGNC:15308	protein_coding	YES	CCDS31518.1	ENSP00000323982	Q8N162		UPI0000041D0C	NM_001005200.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,Superfamily_domains:SSF81321											1						LOW	1	SNV			1	1										PASS		.	.												G	2	3	77	56105732	56105732	C	G	1	0	0	0	0	0	0	0	1	11306	581	21	4		4	OR8H2	11	56105732	Silent	SNP	C	C3N-01414_TP	192013	56105732	78980890	326	25032											
OR8K5	0	.	GRCh38	chr11	56160258	56160258	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggggaatctgcagctcaggCcgccttgtgagttccatcag	8	9	13	11	1	3	1	2	1	1	0	4	2	4	2	3	3	2	3	3	3	1	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.60G>T	p.=	p.R20R	ENST00000313447	1/1	159	128	31	196	196	0	strelka-varscan-mutect	OR8K5,synonymous_variant,p.=,ENST00000313447,NM_001004058.2;	A	ENST00000313447	Transcript	synonymous_variant	60/924	60/924	20/307	R	cgG/cgT		1		-1	OR8K5	HGNC	HGNC:15315	protein_coding	YES	CCDS31521.1	ENSP00000323853	Q8NH50		UPI000004B231	NM_001004058.2			1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF60,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	77	56160258	56160258	C	A	1	0	0	0	0	0	0	0	1	11312	726	26	2		2	OR8K5	11	56160258	Silent	SNP	C	C3N-01414_TP	54526	56160258	78926364	327	25033											
SLC22A9	0	.	GRCh38	chr11	63408128	63408128	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaatgcagacgctgcgTgaggttttggcaacactggg	10	8	14	9	2	0	3	0	1	0	2	0	3	0	3	1	3	3	4	1	3	2	2	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.1305T>A	p.=	p.R435R	ENST00000279178	8/10	174	127	47	171	171	0	strelka-varscan-mutect	SLC22A9,synonymous_variant,p.=,ENST00000279178,NM_080866.2;SLC22A9,intron_variant,,ENST00000536333,;	A	ENST00000279178	Transcript	synonymous_variant	1554/2343	1305/1662	435/553	R	cgT/cgA		1		1	SLC22A9	HGNC	HGNC:16261	protein_coding	YES	CCDS8043.1	ENSP00000279178	Q8IVM8		UPI00000745FF	NM_080866.2			8/10		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF288,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	63408128	63408128	T	A	1	0	0	0	0	0	0	0	1	14727	1683	59	4		4	SLC22A9	11	63408128	Silent	SNP	T	C3N-01414_TP	7247870	63408128	71678494	328	25034											
ACTN3	0	.	GRCh38	chr11	66559308	66559308	+	Missense_Mutation	SNP	G	G	T																															ggtgcgggcgttgctgcggcGccacgaggcctttgagagcg																								rs771111976		C3N-01414_TP	C3N-01414_NB	G	G																c.1478G>T	p.Arg493Leu	p.R493L	ENST00000502692	12/21	75	52	23	92	92	0	strelka-varscan-mutect	ACTN3,missense_variant,p.Arg493Leu,ENST00000502692,NM_001258371.2;ACTN3,missense_variant,p.Arg450Leu,ENST00000513398,NM_001104.3;CTSF,downstream_gene_variant,,ENST00000310325,NM_003793.3;CTD-3074O7.2,intron_variant,,ENST00000504911,;CTSF,downstream_gene_variant,,ENST00000527141,;ACTN3,downstream_gene_variant,,ENST00000511191,;	T	ENST00000502692	Transcript	missense_variant	1594/3084	1478/2835	493/944	R/L	cGc/cTc	rs771111976	1		1	ACTN3	HGNC	HGNC:165	protein_coding	YES	CCDS76439.1	ENSP00000422007		A0A087WSZ2	UPI0003F17CCD	NM_001258371.2	deleterious(0)		12/21		Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF231,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE		SNV	2			1										PASS		rs771111976	.												T	3	4	77	66559308	66559308	G	T	1	0	0	0	0	1	0	0	0	250	1087	38	1		1	ACTN3	11	66559308	Missense_Mutation	SNP	G	C3N-01414_TP	3151180	66559308	68527314	329	25035	525	2									
ACTN3	0	.	GRCh38	chr11	66559309	66559309	+	Silent	SNP	C	C	A																															gtgcgggcgttgctgcggcgCcacgaggcctttgagagcga																								novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1479C>A	p.=	p.R493R	ENST00000502692	12/21	74	51	23	92	92	0	strelka-varscan-mutect	ACTN3,synonymous_variant,p.=,ENST00000502692,NM_001258371.2;ACTN3,synonymous_variant,p.=,ENST00000513398,NM_001104.3;CTSF,downstream_gene_variant,,ENST00000310325,NM_003793.3;CTD-3074O7.2,intron_variant,,ENST00000504911,;CTSF,downstream_gene_variant,,ENST00000527141,;ACTN3,downstream_gene_variant,,ENST00000511191,;	A	ENST00000502692	Transcript	synonymous_variant	1595/3084	1479/2835	493/944	R	cgC/cgA		1		1	ACTN3	HGNC	HGNC:165	protein_coding	YES	CCDS76439.1	ENSP00000422007		A0A087WSZ2	UPI0003F17CCD	NM_001258371.2			12/21		Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF231,SMART_domains:SM00150,Superfamily_domains:SSF46966																	LOW		SNV	2			1										PASS		.	.												A	2	1	77	66559309	66559309	C	A	1	0	0	0	0	0	0	0	1	250	726	26	2		2	ACTN3	11	66559309	Silent	SNP	C	C3N-01414_TP	1	66559309	68527313	330	25036	525	2									
MRGPRF	0	.	GRCh38	chr11	69005339	69005339	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgttgggcgtgctgcccCcggcctcccccagctcagcg	2	8	13	18	3	1	0	1	0	0	0	2	0	2	0	5	2	4	3	5	2	0	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.971G>T	p.Gly324Val	p.G324V	ENST00000309099	3/3	155	123	32	161	160	1	strelka-varscan-mutect	MRGPRF,missense_variant,p.Gly324Val,ENST00000309099,NM_145015.4;MRGPRF,missense_variant,p.Gly324Val,ENST00000441623,NM_001098515.1;MRGPRF,downstream_gene_variant,,ENST00000320913,;RP11-554A11.4,upstream_gene_variant,,ENST00000562276,;RP11-554A11.5,downstream_gene_variant,,ENST00000562506,;	A	ENST00000309099	Transcript	missense_variant	1354/2295	971/1032	324/343	G/V	gGg/gTg		1		-1	MRGPRF	HGNC	HGNC:24828	protein_coding	YES	CCDS8188.1	ENSP00000309782	Q96AM1	A0A024R5F0	UPI000012F566	NM_145015.4	deleterious(0)		3/3		hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF3																	MODERATE	1	SNV	1			1										PASS		rs1179265574	.												A	3	1	77	69005339	69005339	C	A	1	0	0	0	0	1	0	0	0	9731	623	22	2		2	MRGPRF	11	69005339	Missense_Mutation	SNP	C	C3N-01414_TP	2446030	69005339	66081283	331	25037											
KRTAP5-7	0	.	GRCh38	chr11	71527775	71527775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctagctgctgtgtccccGtgtgctgccagtgtaagatc	6	12	12	11	1	1	1	0	0	1	1	3	1	2	1	3	0	4	4	3	0	2	2	rs200121713		C3N-01414_TP	C3N-01414_NB	G	G																c.475G>T	p.Val159Leu	p.V159L	ENST00000398536	1/1	279	184	95	356	355	1	strelka-varscan-mutect	KRTAP5-7,missense_variant,p.Val159Leu,ENST00000398536,NM_001012503.1;NADSYN1,downstream_gene_variant,,ENST00000527963,;	T	ENST00000398536	Transcript	missense_variant	509/1408	475/498	159/165	V/L	Gtg/Ttg	rs200121713	1		1	KRTAP5-7	HGNC	HGNC:23602	protein_coding	YES	CCDS41682.1	ENSP00000417330	Q6L8G8		UPI0000376061	NM_001012503.1	tolerated_low_confidence(0.13)		1/1		hmmpanther:PTHR23262,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		rs200121713	.												T	3	4	77	71527775	71527775	G	T	1	0	0	0	0	1	0	0	0	8461	1145	40	1		1	KRTAP5-7	11	71527775	Missense_Mutation	SNP	G	C3N-01414_TP	2522436	71527775	63558847	332	25038											
ARAP1	0	.	GRCh38	chr11	72712481	72712481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcctcttcctcatcccCttggtcgtccccagacagtt	5	13	6	17	1	3	1	2	0	1	1	8	1	7	1	6	1	0	1	6	1	0	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.835G>T	p.Gly279Trp	p.G279W	ENST00000393609	6/35	105	80	25	99	99	0	strelka-varscan-mutect	ARAP1,missense_variant,p.Gly279Trp,ENST00000359373,;ARAP1,missense_variant,p.Gly279Trp,ENST00000393609,NM_001040118.2;ARAP1,missense_variant,p.Gly34Trp,ENST00000334211,NM_015242.4;ARAP1,missense_variant,p.Gly39Trp,ENST00000393605,;ARAP1,missense_variant,p.Gly34Trp,ENST00000426523,;ARAP1,missense_variant,p.Gly34Trp,ENST00000429686,NM_001135190.1;ARAP1,upstream_gene_variant,,ENST00000542264,;ARAP1,non_coding_transcript_exon_variant,,ENST00000465814,;RPS12P20,downstream_gene_variant,,ENST00000464109,;	A	ENST00000393609	Transcript	missense_variant	1038/5145	835/4353	279/1450	G/W	Ggg/Tgg		1		-1	ARAP1	HGNC	HGNC:16925	protein_coding	YES	CCDS41687.1	ENSP00000377233	Q96P48		UPI000053F81B	NM_001040118.2	tolerated(0.2)		6/35		Low_complexity_(Seg):seg,hmmpanther:PTHR23180:SF195,hmmpanther:PTHR23180																	MODERATE	1	SNV	2			1										PASS		rs1370953930	.												A	3	1	77	72712481	72712481	C	A	1	0	0	0	0	1	0	0	0	960	681	24	2		2	ARAP1	11	72712481	Missense_Mutation	SNP	C	C3N-01414_TP	1184706	72712481	62374141	333	25039											
UVRAG	0	.	GRCh38	chr11	75912024	75912024	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgcaattcttacgatgTcttctctttgctacggtaag	7	17	8	9	3	3	0	0	0	3	0	5	1	3	0	0	1	3	4	0	1	4	7	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.578T>C	p.Val193Ala	p.V193A	ENST00000356136	6/15	179	167	12	232	232	0	strelka-varscan-mutect	UVRAG,missense_variant,p.Val193Ala,ENST00000356136,NM_003369.3;UVRAG,missense_variant,p.Val92Ala,ENST00000528420,;UVRAG,missense_variant,p.Val92Ala,ENST00000528264,;RP11-263C24.1,upstream_gene_variant,,ENST00000531215,;UVRAG,non_coding_transcript_exon_variant,,ENST00000525872,;PPP1R1AP1,upstream_gene_variant,,ENST00000525622,;	C	ENST00000356136	Transcript	missense_variant	819/4123	578/2100	193/699	V/A	gTc/gCc		1		1	UVRAG	HGNC	HGNC:12640	protein_coding	YES	CCDS8241.1	ENSP00000348455	Q9P2Y5		UPI0000137F03	NM_003369.3	deleterious(0.01)		6/15		hmmpanther:PTHR15157:SF5,hmmpanther:PTHR15157,Pfam_domain:PF10186																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	75912024	75912024	T	C	1	0	0	0	0	1	0	0	0	17652	1667	58	5		5	UVRAG	11	75912024	Missense_Mutation	SNP	T	C3N-01414_TP	3199543	75912024	59174598	334	25040											
UVRAG	0	.	GRCh38	chr11	76140731	76140731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagacatcacacctccaGtgcaatccctgttcctaaga	12	9	6	14	0	1	3	1	1	0	2	4	3	4	3	4	0	1	2	4	0	2	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1418G>T	p.Ser473Ile	p.S473I	ENST00000356136	15/15	57	44	13	76	76	0	strelka-varscan-mutect	UVRAG,missense_variant,p.Ser473Ile,ENST00000356136,NM_003369.3;UVRAG,missense_variant,p.Ser101Ile,ENST00000531818,;UVRAG,missense_variant,p.Ser372Ile,ENST00000528420,;UVRAG,missense_variant,p.Ser101Ile,ENST00000532130,;UVRAG,missense_variant,p.Ser101Ile,ENST00000533454,;CTD-2011F17.2,upstream_gene_variant,,ENST00000529298,;UVRAG,3_prime_UTR_variant,,ENST00000525183,;	T	ENST00000356136	Transcript	missense_variant	1659/4123	1418/2100	473/699	S/I	aGt/aTt		1		1	UVRAG	HGNC	HGNC:12640	protein_coding	YES	CCDS8241.1	ENSP00000348455	Q9P2Y5		UPI0000137F03	NM_003369.3	deleterious(0.04)		15/15		hmmpanther:PTHR15157:SF5,hmmpanther:PTHR15157																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	76140731	76140731	G	T	1	0	0	0	0	1	0	0	0	17652	1029	36	2		2	UVRAG	11	76140731	Missense_Mutation	SNP	G	C3N-01414_TP	228707	76140731	58945891	335	25041											
GRM5	0	.	GRCh38	chr11	88567341	88567341	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagctagccatataatgcagGtcgtgtacattgtgaaggcg	12	10	12	7	2	0	1	0	1	0	0	1	1	0	1	1	2	4	3	1	2	6	5	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.2342C>G	p.Thr781Ser	p.T781S	ENST00000305447	7/9	184	129	55	306	306	0	strelka-varscan-mutect	GRM5,missense_variant,p.Thr781Ser,ENST00000455756,NM_000842.4;GRM5,missense_variant,p.Thr781Ser,ENST00000305447,NM_001143831.2;GRM5,missense_variant,p.Thr781Ser,ENST00000305432,;	C	ENST00000305447	Transcript	missense_variant	2492/4571	2342/3639	781/1212	T/S	aCc/aGc		1		-1	GRM5	HGNC	HGNC:4597	protein_coding	YES	CCDS44694.1	ENSP00000306138	P41594		UPI000012F081	NM_001143831.2	deleterious(0)		7/9		Pfam_domain:PF00003,Prints_domain:PR00248,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	88567341	88567341	G	C	1	0	0	0	0	1	0	0	0	6682	1261	44	4		4	GRM5	11	88567341	Missense_Mutation	SNP	G	C3N-01414_TP	12426610	88567341	46519281	336	25042											
ATM	0	.	GRCh38	chr11	108345909	108345909	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtagctacttcttctattgGtaatcttcttgtacatatag	9	19	6	7	0	4	0	0	0	4	0	4	0	4	0	0	1	3	4	0	1	7	12	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.8584+1G>T		p.X2862_splice	ENST00000278616		346	257	89	476	476	0	strelka-varscan-mutect	ATM,splice_donor_variant,,ENST00000278616,NM_000051.3;ATM,splice_donor_variant,,ENST00000452508,;C11orf65,intron_variant,,ENST00000615746,;C11orf65,intron_variant,,ENST00000525729,;C11orf65,intron_variant,,ENST00000524755,;C11orf65,intron_variant,,ENST00000526725,;ATM,upstream_gene_variant,,ENST00000525178,;ATM,splice_donor_variant,,ENST00000524792,;C11orf65,intron_variant,,ENST00000527531,;	T	ENST00000278616	Transcript	splice_donor_variant	-/13147	8584/9171	2862/3056				1		1	ATM	HGNC	HGNC:795	protein_coding	YES	CCDS31669.1	ENSP00000278616	Q13315	A0A024R3C7	UPI000016B511	NM_000051.3				58/62																		HIGH		SNV	5			1										PASS		rs876658182	.												T	5	4	77	108345909	108345909	G	T	1	0	0	0	0	0	0	1	0	1261	1275	44	2		2	ATM	11	108345909	Splice_Site	SNP	G	C3N-01414_TP	19778568	108345909	26740713	337	25043											
OR8G1	0	.	GRCh38	chr11	124250345	124250345	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacatctttattattgccAgcatcctccacattcgctcc	8	15	3	15	1	1	0	0	0	1	0	5	0	4	0	4	0	3	2	4	0	3	6	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.670A>T	p.Ser224Cys	p.S224C	ENST00000341493	1/1	295	199	96	329	329	0	strelka-varscan-mutect	OR8G1,missense_variant,p.Ser224Cys,ENST00000341493,NM_001002905.1;	T	ENST00000341493	Transcript	missense_variant	670/936	670/936	224/311	S/C	Agc/Tgc		1		1	OR8G1	HGNC	HGNC:8484	protein_coding	YES	CCDS73407.1	ENSP00000476313	Q15617	A0A126GVX6	UPI0000061EA7	NM_001002905.1	deleterious_low_confidence(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF73,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	77	124250345	124250345	A	T	1	0	0	0	0	1	0	0	0	11303	188	7	4		4	OR8G1	11	124250345	Missense_Mutation	SNP	A	C3N-01414_TP	15904436	124250345	10836277	338	25044											
ROBO4	0	.	GRCh38	chr11	124896205	124896205	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcccttaccctggatGgaaacccgggctgcgcggct	5	7	12	17	3	0	0	0	0	0	0	0	2	0	2	5	4	4	2	5	4	2	1			C3N-01414_TP	C3N-01414_NB	G	G																c.672C>A	p.=	p.S224S	ENST00000306534	4/18	126	78	48	192	192	0	strelka-varscan-mutect	ROBO4,synonymous_variant,p.=,ENST00000306534,NM_019055.5;ROBO4,synonymous_variant,p.=,ENST00000533054,NM_001301088.1;RP11-664I21.6,downstream_gene_variant,,ENST00000524433,;ROBO4,non_coding_transcript_exon_variant,,ENST00000526899,;ROBO4,non_coding_transcript_exon_variant,,ENST00000527279,;ROBO4,downstream_gene_variant,,ENST00000529941,;ROBO4,non_coding_transcript_exon_variant,,ENST00000532300,;ROBO4,upstream_gene_variant,,ENST00000534407,;ROBO4,upstream_gene_variant,,ENST00000532216,;ROBO4,upstream_gene_variant,,ENST00000525182,;ROBO4,downstream_gene_variant,,ENST00000533337,;	T	ENST00000306534	Transcript	synonymous_variant	1158/4710	672/3024	224/1007	S	tcC/tcA	COSM686543	1		-1	ROBO4	HGNC	HGNC:17985	protein_coding	YES	CCDS8455.1	ENSP00000304945	Q8WZ75		UPI000004A023	NM_019055.5			4/18		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	77	124896205	124896205	G	T	1	0	0	0	0	0	0	0	1	13694	1335	47	2		2	ROBO4	11	124896205	Silent	SNP	G	C3N-01414_TP	645860	124896205	10190417	339	25045											
ACRV1	0	.	GRCh38	chr11	125678051	125678051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccttcagcatgttcagtcGcagcgggctcacctgaagca	9	8	10	14	2	3	1	3	1	0	0	4	1	3	1	2	1	3	5	2	1	1	2	rs374663183		C3N-01414_TP	C3N-01414_NB	G	G																c.299C>A	p.Ala100Glu	p.A100E	ENST00000533904	2/4	431	331	100	515	515	0	strelka-varscan-mutect	ACRV1,missense_variant,p.Ala100Glu,ENST00000533904,NM_001612.5;ACRV1,missense_variant,p.Ala100Glu,ENST00000315608,NM_020069.4;ACRV1,missense_variant,p.Ala45Glu,ENST00000530048,NM_020107.4;ACRV1,intron_variant,,ENST00000527795,NM_020108.4;CHEK1,downstream_gene_variant,,ENST00000428830,NM_001114121.2;CHEK1,downstream_gene_variant,,ENST00000498122,;	T	ENST00000533904	Transcript	missense_variant	642/2212	299/798	100/265	A/E	gCg/gAg	rs374663183,COSM5690032	1		-1	ACRV1	HGNC	HGNC:127	protein_coding	YES	CCDS8460.1	ENSP00000432816	P26436		UPI000012615C	NM_001612.5	tolerated(0.08)		2/4													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs374663183	.												T	3	4	77	125678051	125678051	G	T	1	0	0	0	0	1	0	0	0	214	1087	38	1		1	ACRV1	11	125678051	Missense_Mutation	SNP	G	C3N-01414_TP	781846	125678051	9408571	340	25046											
B3GAT1	0	.	GRCh38	chr11	134387647	134387647	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgatcgctaggatgtcccGtctcttcggcatctccaagg	7	10	11	13	4	2	0	0	0	2	0	7	3	3	1	2	3	0	2	2	3	2	2	rs749052528		C3N-01414_TP	C3N-01414_NB	G	G																c.13C>A	p.=	p.R5R	ENST00000524765	2/6	246	200	46	329	329	0	strelka-varscan-mutect	B3GAT1,synonymous_variant,p.=,ENST00000524765,;B3GAT1,synonymous_variant,p.=,ENST00000312527,NM_054025.2;B3GAT1,synonymous_variant,p.=,ENST00000392580,NM_018644.3;B3GAT1,non_coding_transcript_exon_variant,,ENST00000531510,;B3GAT1,upstream_gene_variant,,ENST00000531778,;	T	ENST00000524765	Transcript	synonymous_variant	4558/5737	13/1005	5/334	R	Cgg/Agg	rs749052528,COSM4019582,COSM4019583	1		-1	B3GAT1	HGNC	HGNC:921	protein_coding	YES	CCDS8500.1	ENSP00000433847	Q9P2W7		UPI0000073281				2/6		hmmpanther:PTHR10896,hmmpanther:PTHR10896:SF21											0,1,1						LOW	1	SNV	2		0,1,1	1										PASS		rs749052528	.												T	2	4	77	134387647	134387647	G	T	1	0	0	0	0	0	0	0	1	1409	1144	40	1		1	B3GAT1	11	134387647	Silent	SNP	G	C3N-01414_TP	8709596	134387647	698975	341	25047											
GDF3	0	.	GRCh38	chr12	7690504	7690504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcttaggggtggtctggcCccacacatgaggctcctgaa	7	9	14	11	0	1	2	0	2	1	0	2	2	2	2	3	6	0	2	3	6	2	1			C3N-01414_TP	C3N-01414_NB	C	C																c.469G>T	p.Gly157Cys	p.G157C	ENST00000329913	2/2	126	91	35	152	152	0	strelka-varscan-mutect	GDF3,missense_variant,p.Gly157Cys,ENST00000329913,NM_020634.1;	A	ENST00000329913	Transcript	missense_variant	517/1239	469/1095	157/364	G/C	Ggc/Tgc	COSM694987	1		-1	GDF3	HGNC	HGNC:4218	protein_coding	YES	CCDS8581.1	ENSP00000331745	Q9NR23		UPI0000049E0E	NM_020634.1	deleterious(0.01)		2/2		hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF38,Pfam_domain:PF00688											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	77	7690504	7690504	C	A	1	0	0	0	0	1	0	0	0	6187	623	22	2		2	GDF3	12	7690504	Missense_Mutation	SNP	C	C3N-01414_TP		7690504	125584805	342	25048											
CLEC4E	0	.	GRCh38	chr12	8537212	8537212	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgtcagtagaaaagaagTagcagctggattgaaaatat	16	10	12	3	0	1	3	1	1	0	2	1	4	1	4	0	2	2	4	0	2	8	4	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.275A>T	p.Tyr92Phe	p.Y92F	ENST00000299663	4/6	139	110	29	187	187	0	strelka-varscan-mutect	CLEC4E,missense_variant,p.Tyr92Phe,ENST00000299663,NM_014358.3;CLEC4E,missense_variant,p.Tyr32Phe,ENST00000537698,;CLEC4E,intron_variant,,ENST00000545274,;CLEC4E,intron_variant,,ENST00000446457,;CLEC4E,intron_variant,,ENST00000450725,;CLEC4E,downstream_gene_variant,,ENST00000446809,;	A	ENST00000299663	Transcript	missense_variant	441/2159	275/660	92/219	Y/F	tAc/tTc		1		-1	CLEC4E	HGNC	HGNC:14555	protein_coding	YES	CCDS8594.1	ENSP00000299663	Q9ULY5		UPI0000037798	NM_014358.3	tolerated(0.08)		4/6		PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF226,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	8537212	8537212	T	A	1	0	0	0	0	1	0	0	0	3283	1638	57	4		4	CLEC4E	12	8537212	Missense_Mutation	SNP	T	C3N-01414_TP	846708	8537212	124738097	343	25049											
A2ML1	0	.	GRCh38	chr12	8848819	8848819	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggactttcctcagcccCtcattgacccaatgccccaa	9	9	6	17	0	2	1	2	1	0	0	3	2	3	2	6	1	2	0	6	1	2	2			C3N-01414_TP	C3N-01414_NB	C	C																c.1933C>A	p.Leu645Ile	p.L645I	ENST00000299698	16/36	307	231	76	386	386	0	strelka-varscan-mutect	A2ML1,missense_variant,p.Leu645Ile,ENST00000299698,NM_144670.4;A2ML1,missense_variant,p.Leu154Ile,ENST00000539547,NM_001282424.1;A2ML1,missense_variant,p.Leu195Ile,ENST00000541459,;A2ML1,missense_variant,p.Leu157Ile,ENST00000545692,;A2ML1,downstream_gene_variant,,ENST00000536789,;A2ML1,downstream_gene_variant,,ENST00000540049,;	A	ENST00000299698	Transcript	missense_variant	2113/5274	1933/4365	645/1454	L/I	Ctc/Atc	COSM1364784	1		1	A2ML1	HGNC	HGNC:23336	protein_coding	YES	CCDS8596.2	ENSP00000299698	A8K2U0		UPI000022904E	NM_144670.4	tolerated(0.21)		16/36		hmmpanther:PTHR11412:SF95,hmmpanther:PTHR11412											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	77	8848819	8848819	C	A	1	0	0	0	0	1	0	0	0	4	681	24	2		2	A2ML1	12	8848819	Missense_Mutation	SNP	C	C3N-01414_TP	311607	8848819	124426490	344	25050											
EIF2S3L	0	.	GRCh38	chr12	10505922	10505922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catggcgggcggagaagctgGggtgactctggggcagccgc	6	5	20	10	3	1	2	0	1	1	1	1	3	1	2	1	7	2	2	1	7	1	0	rs539272190		C3N-01414_TP	C3N-01414_NB	G	G																c.20G>T	p.Gly7Val	p.G7V	ENST00000538173	1/1	330	233	97	426	426	0	strelka-varscan-mutect	EIF2S3L,missense_variant,p.Gly7Val,ENST00000322446,;EIF2S3L,missense_variant,p.Gly7Val,ENST00000538173,;	T	ENST00000538173	Transcript	missense_variant	33/1602	20/1419	7/472	G/V	gGg/gTg	rs539272190	1		1	EIF2S3L	Clone_based_vega_gene		protein_coding	YES		ENSP00000445077	Q2VIR3		UPI0000140E1D		deleterious_low_confidence(0.02)		1/1																			MODERATE	1	SNV				1										PASS		rs539272190	.												T	3	4	77	10505922	10505922	G	T	1	0	0	0	0	1	0	0	0	4845	1232	43	2		2	EIF2S3L	12	10505922	Missense_Mutation	SNP	G	C3N-01414_TP	1657103	10505922	122769387	345	25051											
KRAS	0	.	GRCh38	chr12	25245350	25245350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		C3N-01414_TP	C3N-01414_NB	C	C																c.35G>A	p.Gly12Asp	p.G12D	ENST00000256078	2/6	384	279	105	477	477	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Asp,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Asp,ENST00000556131,;KRAS,missense_variant,p.Gly12Asp,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Asp,ENST00000557334,;	T	ENST00000256078	Transcript	missense_variant	99/1119	35/570	12/189	G/D	gGt/gAt	rs121913529,CM087372,COSM1135366,COSM1140133,COSM1140134,COSM12657,COSM49168,COSM520,COSM521,COSM522	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,0,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1,1,1	1										PASS		rs121913529	.												T	3	4	77	25245350	25245350	C	T	1	0	0	0	0	1	0	0	0	8318	507	18	3		3	KRAS	12	25245350	Missense_Mutation	SNP	C	C3N-01414_TP	14739428	25245350	108029959	346	25052											
TMPRSS12	0	.	GRCh38	chr12	50842978	50842978	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaaatgcggctggggcTcctgagcgtggcgctgttgt	5	10	15	11	3	0	1	0	1	0	0	2	1	2	1	2	4	2	4	2	4	2	1	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.14T>A	p.Leu5His	p.L5H	ENST00000398458	1/5	99	73	26	130	129	1	strelka-varscan-mutect	TMPRSS12,missense_variant,p.Leu5His,ENST00000551456,;TMPRSS12,missense_variant,p.Leu5His,ENST00000398458,NM_182559.2;RN7SL519P,upstream_gene_variant,,ENST00000497925,;RP11-60E8.3,downstream_gene_variant,,ENST00000605614,;	A	ENST00000398458	Transcript	missense_variant	46/1450	14/1047	5/348	L/H	cTc/cAc		1		1	TMPRSS12	HGNC	HGNC:28779	protein_coding	YES	CCDS44881.1	ENSP00000381476	Q86WS5		UPI000019741B	NM_182559.2	deleterious_low_confidence(0)		1/5		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	50842978	50842978	T	A	1	0	0	0	0	1	0	0	0	16720	1551	54	4		4	TMPRSS12	12	50842978	Missense_Mutation	SNP	T	C3N-01414_TP	25597628	50842978	82432331	347	25053											
ITGA7	0	.	GRCh38	chr12	55695533	55695533	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccctcacatgggcagaggTtggaattccgtgtcgctgac	7	9	12	13	2	1	2	1	1	0	1	3	3	2	3	3	3	0	3	3	3	1	2			C3N-01414_TP	C3N-01414_NB	T	T																c.2004A>C	p.Gln668His	p.Q668H	ENST00000553804	14/25	199	189	10	204	201	3	varscan-mutect	ITGA7,missense_variant,p.Gln664His,ENST00000257879,NM_002206.2;ITGA7,missense_variant,p.Gln658His,ENST00000347027,;ITGA7,missense_variant,p.Gln668His,ENST00000553804,NM_001144996.1;ITGA7,missense_variant,p.Gln708His,ENST00000555728,;ITGA7,missense_variant,p.Gln571His,ENST00000452168,NM_001144997.1;ITGA7,downstream_gene_variant,,ENST00000557257,;ITGA7,missense_variant,p.Gln84His,ENST00000554327,;ITGA7,non_coding_transcript_exon_variant,,ENST00000557058,;ITGA7,downstream_gene_variant,,ENST00000553276,;ITGA7,downstream_gene_variant,,ENST00000554543,;ITGA7,downstream_gene_variant,,ENST00000555687,;ITGA7,downstream_gene_variant,,ENST00000556273,;ITGA7,downstream_gene_variant,,ENST00000557488,;	G	ENST00000553804	Transcript	missense_variant	2023/3935	2004/3426	668/1141	Q/H	caA/caC	COSM4452615,COSM4452616,COSM4452617,COSM4452618	1		-1	ITGA7	HGNC	HGNC:6143	protein_coding	YES	CCDS55832.1	ENSP00000452120	Q13683		UPI00003668CF	NM_001144996.1	tolerated(0.16)		14/25		hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF90,Pfam_domain:PF08441,Gene3D:2.60.40.1510,Superfamily_domains:SSF69179											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs1339387222	.												G	3	3	77	55695533	55695533	T	G	1	0	0	0	0	1	0	0	0	7788	1722	60	5		5	ITGA7	12	55695533	Missense_Mutation	SNP	T	C3N-01414_TP	4852555	55695533	77579776	348	25054											
LRP1	0	.	GRCh38	chr12	57198221	57198221	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgggtgggtggcaacctGtactggtgcgacaaaggccg	8	7	17	9	2	0	0	0	0	0	0	0	2	0	0	2	5	3	2	2	5	3	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.9348G>A	p.=	p.L3116L	ENST00000243077	59/89	217	147	70	245	245	0	strelka-varscan-mutect	LRP1,synonymous_variant,p.=,ENST00000243077,NM_002332.2;LRP1,upstream_gene_variant,,ENST00000555124,;MIR1228,downstream_gene_variant,,ENST00000408438,;LRP1,upstream_gene_variant,,ENST00000556247,;LRP1,upstream_gene_variant,,ENST00000555941,;	A	ENST00000243077	Transcript	synonymous_variant	9814/14897	9348/13635	3116/4544	L	ctG/ctA		1		1	LRP1	HGNC	HGNC:6692	protein_coding	YES	CCDS8932.1	ENSP00000243077	Q07954		UPI00001B044F	NM_002332.2			59/89		Gene3D:2.120.10.30,Pfam_domain:PF16472,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,SMART_domains:SM00135,Superfamily_domains:SSF63825																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	57198221	57198221	G	A	1	0	0	0	0	0	0	0	1	8846	1364	48	3		3	LRP1	12	57198221	Silent	SNP	G	C3N-01414_TP	1502688	57198221	76077088	349	25055											
C12orf66	0	.	GRCh38	chr12	64222230	64222230	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggccagcgggatagacTcccccatgcgagctgcgccc	6	4	15	16	4	0	1	0	0	0	1	1	3	1	2	4	3	4	1	4	3	1	1	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.8A>T	p.Glu3Val	p.E3V	ENST00000311915	1/4	161	114	47	204	204	0	strelka-varscan-mutect	C12orf66,missense_variant,p.Glu3Val,ENST00000398055,NM_152440.4;C12orf66,missense_variant,p.Glu3Val,ENST00000311915,NM_001300940.1;C12orf66,missense_variant,p.Glu3Val,ENST00000544871,NM_001300941.1;C12orf66,non_coding_transcript_exon_variant,,ENST00000540673,;C12orf66,non_coding_transcript_exon_variant,,ENST00000615991,;RPS11P6,upstream_gene_variant,,ENST00000535684,;	A	ENST00000311915	Transcript	missense_variant	36/2698	8/1407	3/468	E/V	gAg/gTg		1		-1	C12orf66	HGNC	HGNC:26517	protein_coding	YES	CCDS73490.1	ENSP00000311486		J3KNH0	UPI0003EAEA9B	NM_001300940.1	deleterious_low_confidence(0)		1/4		hmmpanther:PTHR31581,hmmpanther:PTHR31581:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	64222230	64222230	T	A	1	0	0	0	0	1	0	0	0	1820	1551	54	4		4	C12orf66	12	64222230	Missense_Mutation	SNP	T	C3N-01414_TP	7024009	64222230	69053079	350	25056											
PTPRB	0	.	GRCh38	chr12	70555232	70555232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaccagctgcagttgaCagtaaagttgatggaagact	13	9	12	7	0	0	4	0	3	0	1	0	5	0	5	1	1	3	6	1	1	4	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.5071G>C	p.Val1691Leu	p.V1691L	ENST00000334414	20/34	348	270	78	410	410	0	strelka-varscan-mutect	PTPRB,missense_variant,p.Val1691Leu,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Val1603Leu,ENST00000550358,;PTPRB,missense_variant,p.Val1473Leu,ENST00000261266,NM_002837.4;PTPRB,missense_variant,p.Val1383Leu,ENST00000538708,NM_001206972.1;PTPRB,missense_variant,p.Val1383Leu,ENST00000550857,NM_001206971.1;PTPRB,downstream_gene_variant,,ENST00000551525,;PTPRB,downstream_gene_variant,,ENST00000548122,;	G	ENST00000334414	Transcript	missense_variant	5116/12316	5071/6648	1691/2215	V/L	Gtc/Ctc		1		-1	PTPRB	HGNC	HGNC:9665	protein_coding	YES	CCDS44943.1	ENSP00000334928	P23467		UPI00002294FA	NM_001109754.2	deleterious(0.01)		20/34		PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF288,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	77	70555232	70555232	C	G	1	0	0	0	0	1	0	0	0	12950	478	17	4		4	PTPRB	12	70555232	Missense_Mutation	SNP	C	C3N-01414_TP	6333002	70555232	62720077	351	25057											
ANKS1B	0	.	GRCh38	chr12	98798954	98798954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatttttgcacaagcatCttgggttgattctgtccccc	6	14	8	13	1	2	1	0	1	2	0	3	1	3	1	3	1	2	4	3	1	1	5	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.3247G>T	p.Asp1083Tyr	p.D1083Y	ENST00000547776	21/26	163	127	36	208	208	0	strelka-varscan-mutect	ANKS1B,missense_variant,p.Asp1083Tyr,ENST00000547776,NM_152788.4;ANKS1B,missense_variant,p.Asp273Tyr,ENST00000550693,NM_001204069.1;ANKS1B,missense_variant,p.Asp333Tyr,ENST00000549493,NM_181670.3;ANKS1B,missense_variant,p.Asp181Tyr,ENST00000549025,NM_001204066.1;ANKS1B,missense_variant,p.Asp599Tyr,ENST00000547010,;ANKS1B,missense_variant,p.Asp249Tyr,ENST00000549558,NM_020140.3;ANKS1B,missense_variant,p.Asp89Tyr,ENST00000341752,NM_001204081.1;ANKS1B,missense_variant,p.Asp355Tyr,ENST00000550778,;ANKS1B,missense_variant,p.Asp218Tyr,ENST00000547446,NM_001204067.1;ANKS1B,missense_variant,p.Asp113Tyr,ENST00000333732,NM_001204079.1,NM_001204080.1,NM_001204065.1;ANKS1B,missense_variant,p.Asp309Tyr,ENST00000546960,NM_001204068.1;ANKS1B,missense_variant,p.Asp249Tyr,ENST00000546568,NM_001204070.1;ANKS1B,missense_variant,p.Asp113Tyr,ENST00000546364,;ANKS1B,missense_variant,p.Asp89Tyr,ENST00000549797,;ANKS1B,missense_variant,p.Asp89Tyr,ENST00000552407,;ANKS1B,missense_variant,p.Asp14Tyr,ENST00000551613,;ANKS1B,downstream_gene_variant,,ENST00000551560,;ANKS1B,downstream_gene_variant,,ENST00000552748,;ANKS1B,downstream_gene_variant,,ENST00000551830,;ANKS1B,missense_variant,p.Asp89Tyr,ENST00000547362,;RP11-90E9.1,downstream_gene_variant,,ENST00000549019,;	A	ENST00000547776	Transcript	missense_variant	3247/3885	3247/3747	1083/1248	D/Y	Gat/Tat		1		-1	ANKS1B	HGNC	HGNC:24600	protein_coding	YES	CCDS55872.1	ENSP00000449629	Q7Z6G8		UPI00003FE521	NM_152788.4	deleterious(0)		21/26		Gene3D:2.30.29.30,Pfam_domain:PF00640,PROSITE_profiles:PS01179,hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3,SMART_domains:SM00462,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		rs1161191193	.												A	3	1	77	98798954	98798954	C	A	1	0	0	0	0	1	0	0	0	795	913	32	2		2	ANKS1B	12	98798954	Missense_Mutation	SNP	C	C3N-01414_TP	28243722	98798954	34476355	352	25058											
SCYL2	0	.	GRCh38	chr12	100315556	100315556	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaacatttttgcctttcAgcgtgtcattgtgcagagaa	13	13	8	7	1	2	1	2	0	0	1	2	2	2	1	1	0	4	1	1	0	4	4	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1096-2A>T		p.X366_splice	ENST00000360820		120	85	35	123	123	0	strelka-varscan-mutect	SCYL2,splice_acceptor_variant,,ENST00000360820,NM_001317784.1,NM_017988.4;SCYL2,splice_acceptor_variant,,ENST00000635101,;SCYL2,splice_acceptor_variant,,ENST00000549687,;SCYL2,downstream_gene_variant,,ENST00000548392,;SCYL2,upstream_gene_variant,,ENST00000553148,;SCYL2,upstream_gene_variant,,ENST00000550251,;	T	ENST00000360820	Transcript	splice_acceptor_variant	-/5779	1096/2790	366/929				1		1	SCYL2	HGNC	HGNC:19286	protein_coding	YES	CCDS9076.1	ENSP00000354061	Q6P3W7		UPI000004FD59	NM_001317784.1,NM_017988.4				8/17																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	77	100315556	100315556	A	T	1	0	0	0	0	0	0	1	0	14220	202	7	4		4	SCYL2	12	100315556	Splice_Site	SNP	A	C3N-01414_TP	1516602	100315556	32959753	353	25059											
SLC17A8	0	.	GRCh38	chr12	100419831	100419831	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagacccgtgaagaatggcAgaatgtgttcctcatagctg	11	11	11	8	1	1	4	1	1	0	3	2	4	2	4	2	1	1	3	2	1	5	3	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1442A>T	p.Gln481Leu	p.Q481L	ENST00000323346	12/12	279	197	82	387	387	0	strelka-varscan-mutect	SLC17A8,missense_variant,p.Gln481Leu,ENST00000323346,NM_139319.2;SLC17A8,missense_variant,p.Gln431Leu,ENST00000392989,NM_001145288.1;SLC17A8,non_coding_transcript_exon_variant,,ENST00000552697,;	T	ENST00000323346	Transcript	missense_variant	1755/3983	1442/1770	481/589	Q/L	cAg/cTg		1		1	SLC17A8	HGNC	HGNC:20151	protein_coding	YES	CCDS9077.1	ENSP00000316909	Q8NDX2		UPI0000073B9B	NM_139319.2	deleterious(0.01)		12/12		Gene3D:1.20.1250.20,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF207,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	100419831	100419831	A	T	1	0	0	0	0	1	0	0	0	14688	188	7	4		4	SLC17A8	12	100419831	Missense_Mutation	SNP	A	C3N-01414_TP	104275	100419831	32855478	354	25060											
TXNRD1	0	.	GRCh38	chr12	104325355	104325355	+	Frame_Shift_Del	DEL	G	G	-																															aggttgaacaaattgaagcaGggacaccaggccgactcaga																								novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1236delG	p.Thr413HisfsTer7	p.T413Hfs*7	ENST00000525566	11/17	221	163	58	337	336	1	sindel-varindel-pindel	TXNRD1,frameshift_variant,p.Thr313HisfsTer7,ENST00000388854,NM_001261445.1;TXNRD1,frameshift_variant,p.Thr263HisfsTer7,ENST00000354940,;TXNRD1,frameshift_variant,p.Thr315HisfsTer7,ENST00000526691,NM_003330.3;TXNRD1,frameshift_variant,p.Thr263HisfsTer7,ENST00000503506,NM_182743.2,NM_182729.2,NM_182742.2;TXNRD1,frameshift_variant,p.Thr413HisfsTer7,ENST00000429002,;TXNRD1,frameshift_variant,p.Thr413HisfsTer7,ENST00000525566,NM_001093771.2;TXNRD1,frameshift_variant,p.Thr225HisfsTer7,ENST00000397736,;TXNRD1,frameshift_variant,p.Thr307HisfsTer7,ENST00000526390,;TXNRD1,frameshift_variant,p.Thr225HisfsTer7,ENST00000529546,NM_001261446.1;TXNRD1,frameshift_variant,p.Thr263HisfsTer7,ENST00000524698,;TXNRD1,frameshift_variant,p.Thr332HisfsTer7,ENST00000526950,;TXNRD1,5_prime_UTR_variant,,ENST00000529751,;TXNRD1,frameshift_variant,p.Thr263HisfsTer7,ENST00000527688,;	-	ENST00000525566	Transcript	frameshift_variant	1258/3836	1234/1950	412/649	G/X	Ggg/gg		1		1	TXNRD1	HGNC	HGNC:12437	protein_coding	YES	CCDS53820.1	ENSP00000434516	Q16881		UPI00015294EE	NM_001093771.2			11/17		hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF129,Pfam_domain:PF07992,TIGRFAM_domain:TIGR01438,Gene3D:3.50.50.60,Superfamily_domains:SSF51905																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	77	104325355	104325355	G	-	1	0	1	0	1	0	0	0	0	17321	1000	35	0		0	TXNRD1	12	104325355	Frame_Shift_Del	DEL	G	C3N-01414_TP	3905524	104325355	28949954	355	25061											
DAO	0	.	GRCh38	chr12	108885112	108885112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggacataaaggtctacGcggaccgcttcaccccactc	10	7	8	16	3	2	0	1	0	1	0	3	2	2	2	3	3	1	1	3	3	3	3	rs551786568		C3N-01414_TP	C3N-01414_NB	G	G																c.106G>T	p.Ala36Ser	p.A36S	ENST00000228476	2/11	91	57	34	99	99	0	strelka-varscan-mutect	DAO,missense_variant,p.Ala36Ser,ENST00000228476,NM_001917.4;DAO,missense_variant,p.Ala36Ser,ENST00000551281,;DAO,missense_variant,p.Ala36Ser,ENST00000547166,;DAO,intron_variant,,ENST00000547768,;DAO,downstream_gene_variant,,ENST00000548052,;DAO,missense_variant,p.Ala36Ser,ENST00000549215,;DAO,missense_variant,p.Ala36Ser,ENST00000547122,;	T	ENST00000228476	Transcript	missense_variant	310/1756	106/1044	36/347	A/S	Gcg/Tcg	rs551786568,COSM1202985	1		1	DAO	HGNC	HGNC:2671	protein_coding	YES	CCDS9122.1	ENSP00000228476	P14920	A0A024RBI1	UPI0000130F5F	NM_001917.4	tolerated(0.43)		2/11		Gene3D:3.50.50.60,Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,hmmpanther:PTHR11530,hmmpanther:PTHR11530:SF11,Superfamily_domains:SSF51971											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs551786568	.												T	3	4	77	108885112	108885112	G	T	1	0	0	0	0	1	0	0	0	4032	1087	38	1		1	DAO	12	108885112	Missense_Mutation	SNP	G	C3N-01414_TP	4559757	108885112	24390197	356	25062											
ACACB	0	.	GRCh38	chr12	109191729	109191729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaacaacgacatcgacaccgGgtggttggactacctcattg	11	8	11	11	3	1	0	1	0	0	0	2	4	1	1	2	3	3	1	2	3	3	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.2261G>T	p.Gly754Val	p.G754V	ENST00000338432	14/53	319	214	105	384	384	0	strelka-varscan-mutect	ACACB,missense_variant,p.Gly754Val,ENST00000338432,;ACACB,missense_variant,p.Gly754Val,ENST00000377848,NM_001093.3;ACACB,5_prime_UTR_variant,,ENST00000377854,;ACACB,non_coding_transcript_exon_variant,,ENST00000544651,;	T	ENST00000338432	Transcript	missense_variant	2380/9360	2261/7377	754/2458	G/V	gGg/gTg		1		1	ACACB	HGNC	HGNC:85	protein_coding	YES	CCDS31898.1	ENSP00000341044	O00763		UPI0000DBEEFB		deleterious(0)		14/53		PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF94,hmmpanther:PTHR18866,Pfam_domain:PF02785,Gene3D:3.30.470.20,SMART_domains:SM00878,Superfamily_domains:SSF51246																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	109191729	109191729	G	T	1	0	0	0	0	1	0	0	0	150	1232	43	2		2	ACACB	12	109191729	Missense_Mutation	SNP	G	C3N-01414_TP	306617	109191729	24083580	357	25063											
OAS2	0	.	GRCh38	chr12	113005023	113005023	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacttaaaagctacacctcCcaaaaaaacgagcggcacaa	18	5	5	13	2	1	0	1	0	0	0	2	1	2	0	2	1	4	2	2	1	7	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1269C>T	p.=	p.S423S	ENST00000342315	7/11	456	405	51	534	534	0	strelka-varscan-mutect	OAS2,synonymous_variant,p.=,ENST00000392583,NM_002535.2;OAS2,synonymous_variant,p.=,ENST00000342315,NM_016817.2;OAS2,synonymous_variant,p.=,ENST00000620097,;OAS2,downstream_gene_variant,,ENST00000552756,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS2,non_coding_transcript_exon_variant,,ENST00000548941,;	T	ENST00000342315	Transcript	synonymous_variant	1483/3613	1269/2160	423/719	S	tcC/tcT		1		1	OAS2	HGNC	HGNC:8087	protein_coding	YES	CCDS31906.1	ENSP00000342278	P29728		UPI000013CB0B	NM_016817.2			7/11		PROSITE_profiles:PS50152,hmmpanther:PTHR11258,hmmpanther:PTHR11258:SF3,Pfam_domain:PF01909,Gene3D:3.30.460.10,Superfamily_domains:SSF81301																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	77	113005023	113005023	C	T	1	0	0	0	0	0	0	0	1	10879	610	22	3		3	OAS2	12	113005023	Silent	SNP	C	C3N-01414_TP	3813294	113005023	20270286	358	25064											
NOS1	0	.	GRCh38	chr12	117265329	117265329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaggacctggtattcgaagGagggggtgagccggtagttg	9	8	19	5	2	0	1	0	1	0	0	1	5	0	3	2	6	1	3	2	6	4	4	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.2123C>A	p.Ser708Tyr	p.S708Y	ENST00000618760	12/30	38	31	7	40	40	0	strelka-varscan-mutect	NOS1,missense_variant,p.Ser708Tyr,ENST00000618760,NM_001204218.1;NOS1,missense_variant,p.Ser708Tyr,ENST00000317775,NM_001204214.1,NM_000620.4,NM_001204213.1;NOS1,missense_variant,p.Ser708Tyr,ENST00000338101,;NOS1,missense_variant,p.Ser707Tyr,ENST00000344089,;	T	ENST00000618760	Transcript	missense_variant	2834/12283	2123/4407	708/1468	S/Y	tCc/tAc		1		-1	NOS1	HGNC	HGNC:7872	protein_coding	YES	CCDS55890.1	ENSP00000477999	P29475		UPI00001FBC10	NM_001204218.1	tolerated(0.1)		12/30		hmmpanther:PTHR19384:SF63,hmmpanther:PTHR19384,Pfam_domain:PF02898,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	77	117265329	117265329	G	T	1	0	0	0	0	1	0	0	0	10586	1174	41	2		2	NOS1	12	117265329	Missense_Mutation	SNP	G	C3N-01414_TP	4260306	117265329	16009980	359	25065											
NOS1	0	.	GRCh38	chr12	117268078	117268078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccgcgatattgatctccaCcagcgcctggtccttccaca	9	9	7	16	3	1	1	0	1	1	0	4	2	3	1	6	1	2	0	6	1	2	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1906G>A	p.Val636Met	p.V636M	ENST00000618760	11/30	255	230	25	302	302	0	strelka-varscan-mutect	NOS1,missense_variant,p.Val636Met,ENST00000618760,NM_001204218.1;NOS1,missense_variant,p.Val636Met,ENST00000317775,NM_001204214.1,NM_000620.4,NM_001204213.1;NOS1,missense_variant,p.Val636Met,ENST00000338101,;NOS1,missense_variant,p.Val635Met,ENST00000344089,;	T	ENST00000618760	Transcript	missense_variant	2617/12283	1906/4407	636/1468	V/M	Gtg/Atg		1		-1	NOS1	HGNC	HGNC:7872	protein_coding	YES	CCDS55890.1	ENSP00000477999	P29475		UPI00001FBC10	NM_001204218.1	deleterious(0.01)		11/30		hmmpanther:PTHR19384:SF63,hmmpanther:PTHR19384,Gene3D:3.90.1230.10,Pfam_domain:PF02898,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	77	117268078	117268078	C	T	1	0	0	0	0	1	0	0	0	10586	507	18	3		3	NOS1	12	117268078	Missense_Mutation	SNP	C	C3N-01414_TP	2749	117268078	16007231	360	25066											
KSR2	0	.	GRCh38	chr12	117667630	117667630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgctgctgtggatcttgaGgttcaagggtttgctcttct	5	16	12	8	1	4	1	1	1	3	0	4	2	4	2	0	3	3	5	0	3	2	5	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.928C>T	p.Leu310Phe	p.L310F	ENST00000425217	5/20	105	74	31	123	122	1	varscan-mutect	KSR2,missense_variant,p.Leu339Phe,ENST00000339824,;KSR2,missense_variant,p.Leu310Phe,ENST00000425217,NM_173598.4;KSR2,non_coding_transcript_exon_variant,,ENST00000545002,;	A	ENST00000425217	Transcript	missense_variant	983/17008	928/2766	310/921	L/F	Ctc/Ttc		1		-1	KSR2	HGNC	HGNC:18610	protein_coding	YES	CCDS61250.1	ENSP00000389715		E9PB13	UPI000164FA1C	NM_173598.4	tolerated(0.22)		5/20		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	77	117667630	117667630	G	A	1	0	0	0	0	1	0	0	0	8481	1000	35	3		3	KSR2	12	117667630	Missense_Mutation	SNP	G	C3N-01414_TP	399552	117667630	15607679	361	25067											
SBNO1	0	.	GRCh38	chr12	123309730	123309730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagattcccatatcatatCttccattttttttggcattt	9	20	3	9	0	2	1	1	0	1	1	4	1	4	1	2	1	0	1	2	1	3	10	rs780127026		C3N-01414_TP	C3N-01414_NB	C	C																c.3422G>T	p.Arg1141Ile	p.R1141I	ENST00000420886	25/31	165	107	58	219	218	1	strelka-varscan-mutect	SBNO1,missense_variant,p.Arg1140Ile,ENST00000267176,NM_018183.3;SBNO1,missense_variant,p.Arg1141Ile,ENST00000420886,NM_001167856.1;SBNO1,missense_variant,p.Arg1141Ile,ENST00000602398,;	A	ENST00000420886	Transcript	missense_variant	3422/10981	3422/4182	1141/1393	R/I	aGa/aTa	rs780127026	1		-1	SBNO1	HGNC	HGNC:22973	protein_coding	YES	CCDS53844.1	ENSP00000387361	A3KN83		UPI00001FB922	NM_001167856.1	deleterious(0)		25/31		hmmpanther:PTHR12706:SF8,hmmpanther:PTHR12706,Pfam_domain:PF13871																	MODERATE	1	SNV	1			1										PASS		rs780127026	.												A	3	1	77	123309730	123309730	C	A	1	0	0	0	0	1	0	0	0	14127	913	32	2		2	SBNO1	12	123309730	Missense_Mutation	SNP	C	C3N-01414_TP	5642100	123309730	9965579	362	25068											
DNAH10	0	.	GRCh38	chr12	123873655	123873655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgaaccaaagatacttacgGcccacccatgggaaaacgcc	14	4	9	14	3	0	1	0	0	0	1	0	3	0	2	4	2	4	0	4	2	6	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.7529G>T	p.Gly2510Val	p.G2510V	ENST00000638045	45/78	261	209	52	304	304	0	strelka-varscan-mutect	DNAH10,missense_variant,p.Gly2571Val,ENST00000409039,;DNAH10,missense_variant,p.Gly2510Val,ENST00000638045,NM_207437.3;DNAH10,intron_variant,,ENST00000497783,;	T	ENST00000638045	Transcript	missense_variant	7554/13678	7529/13416	2510/4471	G/V	gGc/gTc		1		1	DNAH10	HGNC	HGNC:2941	protein_coding	YES	CCDS9255.2	ENSP00000489675			UPI00014F7B89	NM_207437.3	deleterious(0)		45/78		hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF12775,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	77	123873655	123873655	G	T	1	0	0	0	0	1	0	0	0	4411	1203	42	2		2	DNAH10	12	123873655	Missense_Mutation	SNP	G	C3N-01414_TP	563925	123873655	9401654	363	25069											
PIWIL1	0	.	GRCh38	chr12	130349937	130349937	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaagaaagccgacggctcTgaagtcagcttcttagaata	13	11	9	8	2	3	3	1	1	2	2	3	4	3	3	1	1	2	2	1	1	6	5	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.1014T>A	p.=	p.S338S	ENST00000245255	9/21	189	144	45	239	239	0	strelka-varscan-mutect	PIWIL1,synonymous_variant,p.=,ENST00000245255,NM_004764.4,NM_001190971.1;PIWIL1,downstream_gene_variant,,ENST00000542723,;PIWIL1,downstream_gene_variant,,ENST00000546060,;PIWIL1,downstream_gene_variant,,ENST00000535956,;PIWIL1,downstream_gene_variant,,ENST00000539995,;PIWIL1,downstream_gene_variant,,ENST00000539400,;RP11-200K12.3,downstream_gene_variant,,ENST00000624997,;PIWIL1,downstream_gene_variant,,ENST00000540672,;	A	ENST00000245255	Transcript	synonymous_variant	1286/3897	1014/2586	338/861	S	tcT/tcA		1		1	PIWIL1	HGNC	HGNC:9007	protein_coding	YES	CCDS9268.1	ENSP00000245255	Q96J94	A0A024RBS5	UPI000007059F	NM_004764.4,NM_001190971.1			9/21		Gene3D:2.170.260.10,Pfam_domain:PF02170,PROSITE_profiles:PS50821,hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF46,SMART_domains:SM00949,Superfamily_domains:SSF101690																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	130349937	130349937	T	A	1	0	0	0	0	0	0	0	1	12053	1567	55	4		4	PIWIL1	12	130349937	Silent	SNP	T	C3N-01414_TP	6476282	130349937	2925372	364	25070											
GALNT9	0	.	GRCh38	chr12	132261023	132261023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccttccagccctgcagcCgcgcgcggatcagtccttcc	4	7	10	20	5	1	0	1	0	0	0	4	1	4	1	7	1	3	1	7	1	0	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.686G>T	p.Arg229Leu	p.R229L	ENST00000328957	4/11	252	172	80	245	245	0	strelka-varscan-mutect	GALNT9,missense_variant,p.Arg229Leu,ENST00000328957,;GALNT9,upstream_gene_variant,,ENST00000411988,;GALNT9,non_coding_transcript_exon_variant,,ENST00000535208,;GALNT9,non_coding_transcript_exon_variant,,ENST00000424720,;	A	ENST00000328957	Transcript	missense_variant	686/2410	686/1812	229/603	R/L	cGg/cTg		1		-1	GALNT9	HGNC	HGNC:4131	protein_coding			ENSP00000329846		J3KNN1	UPI00004566BE		deleterious(0)		4/11		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF28,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		rs908793467	.												A	3	1	77	132261023	132261023	C	A	1	0	0	0	0	1	0	0	0	6091	652	23	1		1	GALNT9	12	132261023	Missense_Mutation	SNP	C	C3N-01414_TP	1911086	132261023	1014286	365	25071											
LATS2	0	.	GRCh38	chr13	20987915	20987915	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctccagctgcagcctccggTtaaccttctgctggtaggtt	5	12	11	13	1	1	0	0	0	1	0	3	0	3	0	4	3	5	7	4	3	2	4	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.1865A>C	p.Asn622Thr	p.N622T	ENST00000382592	4/8	152	126	26	249	249	0	strelka-varscan-mutect	LATS2,missense_variant,p.Asn622Thr,ENST00000382592,NM_014572.2;LATS2,downstream_gene_variant,,ENST00000472754,;	G	ENST00000382592	Transcript	missense_variant	2271/5511	1865/3267	622/1088	N/T	aAc/aCc		1		-1	LATS2	HGNC	HGNC:6515	protein_coding	YES	CCDS9294.1	ENSP00000372035	Q9NRM7	A0A024RDM3	UPI000013DBF5	NM_014572.2	tolerated(0.26)		4/8		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24356:SF149,hmmpanther:PTHR24356																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	77	20987915	20987915	T	G	1	0	0	0	0	1	0	0	0	8552	1725	60	5		5	LATS2	13	20987915	Missense_Mutation	SNP	T	C3N-01414_TP		20987915	93376413	366	25072											
LNX2	0	.	GRCh38	chr13	27581328	27581328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgcctccagatcacaacGttgcattacatctttgcaca	11	12	6	12	1	2	1	1	0	1	1	3	1	3	1	2	0	5	3	2	0	2	3			C3N-01414_TP	C3N-01414_NB	G	G																c.376C>T	p.Arg126Cys	p.R126C	ENST00000316334	2/10	20	13	7	34	34	0	strelka-varscan-mutect	LNX2,missense_variant,p.Arg126Cys,ENST00000316334,NM_153371.3;	A	ENST00000316334	Transcript	missense_variant	506/4627	376/2073	126/690	R/C	Cgt/Tgt	COSM946442	1		-1	LNX2	HGNC	HGNC:20421	protein_coding	YES	CCDS9323.1	ENSP00000325929	Q8N448		UPI000012E7A7	NM_153371.3	deleterious(0)		2/10		hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF33											1						MODERATE	1	SNV	1		1	1										PASS		rs963005282	.												A	3	1	77	27581328	27581328	G	A	1	0	0	0	0	1	0	0	0	8793	1145	40	1		1	LNX2	13	27581328	Missense_Mutation	SNP	G	C3N-01414_TP	6593413	27581328	86783000	367	25073											
NHLRC3	0	.	GRCh38	chr13	39047803	39047803	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaatccaactagcagatcaAgttttgccacatctcctaga	14	10	5	12	0	2	2	1	0	1	2	4	2	3	2	3	0	3	2	3	0	5	4	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.921A>T	p.Gln307His	p.Q307H	ENST00000379600	7/7	190	135	55	392	392	0	strelka-varscan-mutect	NHLRC3,missense_variant,p.Gln307His,ENST00000379600,NM_001012754.3;NHLRC3,missense_variant,p.Gln110His,ENST00000470258,;NHLRC3,missense_variant,p.Gln240His,ENST00000379599,NM_001017370.2;NHLRC3,downstream_gene_variant,,ENST00000485407,;	T	ENST00000379600	Transcript	missense_variant	1243/3549	921/1044	307/347	Q/H	caA/caT		1		1	NHLRC3	HGNC	HGNC:33751	protein_coding	YES	CCDS31961.1	ENSP00000368920	Q5JS37		UPI0000251E60	NM_001012754.3	tolerated(0.08)		7/7		hmmpanther:PTHR24104:SF8,hmmpanther:PTHR24104,Gene3D:2.120.10.30,Superfamily_domains:SSF101898																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	39047803	39047803	A	T	1	0	0	0	0	1	0	0	0	10440	69	3	4		4	NHLRC3	13	39047803	Missense_Mutation	SNP	A	C3N-01414_TP	11466475	39047803	75316525	368	25074											
ERICH6B	0	.	GRCh38	chr13	45574841	45574841	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtttttatccaacttaCgttttcatctaaatcttcca	11	18	2	10	1	4	0	2	0	2	0	6	0	6	0	2	0	2	2	2	0	6	8	rs201946586		C3N-01414_TP	C3N-01414_NB	C	C																c.1050+1G>T		p.X350_splice	ENST00000298738		200	163	37	310	310	0	strelka-varscan-mutect	ERICH6B,splice_donor_variant,,ENST00000298738,NM_182542.2;ERICH6B,splice_donor_variant,,ENST00000378977,;	A	ENST00000298738	Transcript	splice_donor_variant	-/2421	1050/2091	350/696			rs201946586	1		-1	ERICH6B	HGNC	HGNC:26523	protein_coding	YES	CCDS45045.1	ENSP00000298738	Q5W0A0		UPI000013E513	NM_182542.2				8/14																		HIGH	1	SNV	2			1										PASS		rs201946586	.												A	5	1	77	45574841	45574841	C	A	1	0	0	0	0	0	0	1	0	5087	550	19	1		1	ERICH6B	13	45574841	Splice_Site	SNP	C	C3N-01414_TP	6527038	45574841	68789487	369	25075											
SIAH3	0	.	GRCh38	chr13	45783479	45783479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagctgtgccagcgaggtGttgaggacgaggcagtcccc	9	6	16	10	2	0	2	0	1	0	1	1	5	1	3	3	3	3	3	3	3	1	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.714C>A	p.Asn238Lys	p.N238K	ENST00000400405	2/2	212	184	28	296	296	0	strelka-varscan-mutect	SIAH3,missense_variant,p.Asn238Lys,ENST00000400405,NM_198849.2;	T	ENST00000400405	Transcript	missense_variant	821/7057	714/810	238/269	N/K	aaC/aaA		1		-1	SIAH3	HGNC	HGNC:30553	protein_coding	YES	CCDS41883.1	ENSP00000383256	Q8IW03		UPI00001C1F5A	NM_198849.2	deleterious(0)		2/2		hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF21,Pfam_domain:PF03145,Gene3D:2.60.210.10,Superfamily_domains:SSF49599																	MODERATE	1	SNV	1			1										PASS		rs755151857	.												T	3	4	77	45783479	45783479	G	T	1	0	0	0	0	1	0	0	0	14565	1368	48	2		2	SIAH3	13	45783479	Missense_Mutation	SNP	G	C3N-01414_TP	208638	45783479	68580849	370	25076											
THSD1	0	.	GRCh38	chr13	52378774	52378774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgaagaggagatgggCtggatggctggaaagctgca	10	6	20	5	0	0	3	0	1	0	2	0	6	0	5	0	7	2	5	0	7	2	0	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1196G>T	p.Ser399Ile	p.S399I	ENST00000258613	5/5	75	63	12	99	98	1	strelka-varscan-mutect	THSD1,missense_variant,p.Ser346Ile,ENST00000349258,NM_199263.2;THSD1,missense_variant,p.Ser399Ile,ENST00000258613,NM_018676.3;	A	ENST00000258613	Transcript	missense_variant	1375/2962	1196/2559	399/852	S/I	aGc/aTc		1		-1	THSD1	HGNC	HGNC:17754	protein_coding	YES	CCDS9432.1	ENSP00000258613	Q9NS62	A0A024R064	UPI000007376D	NM_018676.3	tolerated(0.08)		5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR16311																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	52378774	52378774	C	A	1	0	0	0	0	1	0	0	0	16311	797	28	2		2	THSD1	13	52378774	Missense_Mutation	SNP	C	C3N-01414_TP	6595295	52378774	61985554	371	25077											
FARP1	0	.	GRCh38	chr13	98440197	98440197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcggagaagagcagcagccCcgcccctgagttcctggcca	8	4	14	15	2	0	3	0	1	0	2	1	4	1	3	6	3	3	3	6	3	1	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.2684C>G	p.Pro895Arg	p.P895R	ENST00000627049	24/28	242	164	78	349	349	0	strelka-varscan-mutect	FARP1,missense_variant,p.Pro864Arg,ENST00000319562,NM_005766.3;FARP1,missense_variant,p.Pro895Arg,ENST00000627049,;FARP1,missense_variant,p.Pro895Arg,ENST00000595437,NM_001286839.1;FARP1,missense_variant,p.Pro194Arg,ENST00000596256,;STK24,downstream_gene_variant,,ENST00000539966,NM_001032296.3;FARP1,downstream_gene_variant,,ENST00000423063,;FARP1-AS1,upstream_gene_variant,,ENST00000432229,;FARP1,upstream_gene_variant,,ENST00000594346,;	G	ENST00000627049	Transcript	missense_variant	3102/5103	2684/3231	895/1076	P/R	cCc/cGc		1		1	FARP1	HGNC	HGNC:3591	protein_coding	YES	CCDS66572.1	ENSP00000486285		C9JME2	UPI000041C6E3		tolerated(0.13)		24/28																			MODERATE		SNV	5			1										PASS		.	.												G	3	3	77	98440197	98440197	C	G	1	0	0	0	0	1	0	0	0	5536	623	22	4		4	FARP1	13	98440197	Missense_Mutation	SNP	C	C3N-01414_TP	46061423	98440197	15924131	372	25078											
POTEM	0	.	GRCh38	chr14	18967744	18967744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcacttctggagaccacGacgactctgctatgaagaca	11	8	11	11	2	2	3	0	1	2	2	2	6	2	3	1	2	1	2	1	2	2	2	rs764677157		C3N-01414_TP	C3N-01414_NB	G	G																c.259G>T	p.Asp87Tyr	p.D87Y	ENST00000547889	1/11	647	588	59	926	925	1	varscan-mutect	POTEM,missense_variant,p.Asp87Tyr,ENST00000547889,NM_001145442.1;POTEM,missense_variant,p.Asp87Tyr,ENST00000552966,;POTEM,missense_variant,p.Asp87Tyr,ENST00000616847,;	T	ENST00000547889	Transcript	missense_variant	311/1817	259/1527	87/508	D/Y	Gac/Tac	rs764677157,COSM954028	1		1	POTEM	HGNC	HGNC:37096	protein_coding	YES	CCDS73609.1	ENSP00000448062	A6NI47		UPI00006C1407	NM_001145442.1	deleterious_low_confidence(0)		1/11		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs764677157	.												T	3	4	77	18967744	18967744	G	T	1	0	0	0	0	1	0	0	0	12384	1058	37	1		1	POTEM	14	18967744	Missense_Mutation	SNP	G	C3N-01414_TP		18967744	88075974	373	25079											
POTEG	0	.	GRCh38	chr14	19434031	19434031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcatagcagagtcgtCgtggtctccagaagtgccca	8	11	11	11	2	3	2	1	0	2	2	6	2	3	2	2	1	2	1	2	1	2	2	rs369754554		C3N-01414_TP	C3N-01414_NB	C	C																c.259G>T	p.Asp87Tyr	p.D87Y	ENST00000547848	1/11	111	96	15	218	218	0	varscan-mutect	POTEG,missense_variant,p.Asp87Tyr,ENST00000547848,NM_001005356.2;POTEG,missense_variant,p.Asp87Tyr,ENST00000547722,;POTEG,missense_variant,p.Asp87Tyr,ENST00000622767,;	A	ENST00000547848	Transcript	missense_variant	311/2204	259/1527	87/508	D/Y	Gac/Tac	rs369754554,COSM2028145,COSM2028146	1		-1	POTEG	HGNC	HGNC:33896	protein_coding	YES	CCDS73610.1	ENSP00000450853	Q6S5H5		UPI00004443FE	NM_001005356.2	deleterious_low_confidence(0)		1/11		hmmpanther:PTHR24118:SF43,hmmpanther:PTHR24118											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs369754554	.												A	3	1	77	19434031	19434031	C	A	1	0	0	0	0	1	0	0	0	12380	884	31	1		1	POTEG	14	19434031	Missense_Mutation	SNP	C	C3N-01414_TP	466287	19434031	87609687	374	25080											
OR11G2	0	.	GRCh38	chr14	20197469	20197469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagccccagcaactccaGcaccttcactggcttcatcc	10	7	5	19	0	2	0	2	0	0	0	4	0	4	0	5	1	5	3	5	1	2	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.134G>T	p.Ser45Ile	p.S45I	ENST00000357366	1/1	184	146	38	351	351	0	strelka-varscan-mutect	OR11G2,missense_variant,p.Ser45Ile,ENST00000357366,NM_001005503.1;	T	ENST00000357366	Transcript	missense_variant	134/1111	134/1038	45/345	S/I	aGc/aTc		1		1	OR11G2	HGNC	HGNC:15346	protein_coding	YES	CCDS32032.1	ENSP00000349930	Q8NGC1		UPI000015F241	NM_001005503.1	deleterious(0.05)		1/1		hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF183,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1302599281	.												T	3	4	77	20197469	20197469	G	T	1	0	0	0	0	1	0	0	0	11001	971	34	2		2	OR11G2	14	20197469	Missense_Mutation	SNP	G	C3N-01414_TP	763438	20197469	86846249	375	25081											
OR11H6	0	.	GRCh38	chr14	20223901	20223901	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagggaatggagctattgtCtgtgcagtgaaattggacag	11	11	14	5	0	1	1	0	1	1	0	1	4	1	4	0	3	2	2	0	3	4	4	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.192C>A	p.=	p.V64V	ENST00000315519	1/1	183	153	30	270	269	1	strelka-varscan-mutect	OR11H6,synonymous_variant,p.=,ENST00000315519,NM_001004480.1;	A	ENST00000315519	Transcript	synonymous_variant	270/1174	192/993	64/330	V	gtC/gtA		1		1	OR11H6	HGNC	HGNC:15349	protein_coding	YES	CCDS32033.1	ENSP00000319071	Q8NGC7	A0A126GVP4	UPI000004B1F1	NM_001004480.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF90,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs1236938961	.												A	2	1	77	20223901	20223901	C	A	1	0	0	0	0	0	0	0	1	11006	900	32	2		2	OR11H6	14	20223901	Silent	SNP	C	C3N-01414_TP	26432	20223901	86819817	376	25082											
ACIN1	0	.	GRCh38	chr14	23059169	23059169	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagcggcgcccaccccggtcCcgcacaggtgtgctccgact	5	6	12	18	5	0	0	0	0	0	0	2	1	2	0	5	3	2	2	5	3	1	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.4005G>T	p.=	p.R1335R	ENST00000262710	19/19	106	78	28	185	185	0	strelka-varscan-mutect	ACIN1,synonymous_variant,p.=,ENST00000262710,NM_014977.3;ACIN1,synonymous_variant,p.=,ENST00000457657,NM_001164815.1;ACIN1,synonymous_variant,p.=,ENST00000605057,;ACIN1,synonymous_variant,p.=,ENST00000555053,NM_001164814.1;ACIN1,synonymous_variant,p.=,ENST00000557515,;ACIN1,synonymous_variant,p.=,ENST00000397341,;ACIN1,synonymous_variant,p.=,ENST00000357481,NM_001164817.1;ACIN1,synonymous_variant,p.=,ENST00000338631,NM_001164816.1;CDH24,upstream_gene_variant,,ENST00000397359,NM_022478.3;CDH24,upstream_gene_variant,,ENST00000487137,NM_144985.3;CDH24,upstream_gene_variant,,ENST00000267383,;CDH24,upstream_gene_variant,,ENST00000554034,;CDH24,upstream_gene_variant,,ENST00000610348,;ACIN1,downstream_gene_variant,,ENST00000555566,;ACIN1,3_prime_UTR_variant,,ENST00000473758,;ACIN1,downstream_gene_variant,,ENST00000555478,;ACIN1,downstream_gene_variant,,ENST00000555807,;ACIN1,downstream_gene_variant,,ENST00000554680,;ACIN1,downstream_gene_variant,,ENST00000553790,;ACIN1,downstream_gene_variant,,ENST00000556052,;ACIN1,downstream_gene_variant,,ENST00000557039,;ACIN1,downstream_gene_variant,,ENST00000555395,;	A	ENST00000262710	Transcript	synonymous_variant	4333/4935	4005/4026	1335/1341	R	cgG/cgT		1		-1	ACIN1	HGNC	HGNC:17066	protein_coding	YES	CCDS9587.1	ENSP00000262710	Q9UKV3		UPI000013D308	NM_014977.3			19/19																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	23059169	23059169	C	A	1	0	0	0	0	0	0	0	1	180	610	22	2		2	ACIN1	14	23059169	Silent	SNP	C	C3N-01414_TP	2835268	23059169	83984549	377	25083											
RABGGTA	0	.	GRCh38	chr14	24267773	24267773	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgcccgcatggggtccaCggcctggagtggatgaggtg	5	8	18	10	3	0	1	0	1	0	0	1	3	1	3	3	6	1	2	3	6	0	1	rs369378775		C3N-01414_TP	C3N-01414_NB	C	C																c.1240G>T	p.Val414Leu	p.V414L	ENST00000399409	13/16	138	92	46	187	187	0	strelka-varscan-mutect	RABGGTA,missense_variant,p.Val414Leu,ENST00000399409,NM_004581.5;RABGGTA,missense_variant,p.Val414Leu,ENST00000216840,NM_182836.2;RABGGTA,missense_variant,p.Val23Leu,ENST00000560777,;RABGGTA,missense_variant,p.Val50Leu,ENST00000560521,;TGM1,upstream_gene_variant,,ENST00000206765,NM_000359.2;TGM1,upstream_gene_variant,,ENST00000544573,;TGM1,upstream_gene_variant,,ENST00000560226,;TGM1,upstream_gene_variant,,ENST00000560478,;TGM1,upstream_gene_variant,,ENST00000558074,;TGM1,upstream_gene_variant,,ENST00000560443,;TGM1,upstream_gene_variant,,ENST00000561067,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000560871,;RABGGTA,downstream_gene_variant,,ENST00000559586,;RABGGTA,downstream_gene_variant,,ENST00000560163,;RABGGTA,downstream_gene_variant,,ENST00000558534,;RABGGTA,downstream_gene_variant,,ENST00000558954,;RABGGTA,missense_variant,p.Arg415Leu,ENST00000559974,;RABGGTA,missense_variant,p.Arg415Leu,ENST00000558376,;RABGGTA,missense_variant,p.Val50Leu,ENST00000560243,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000559551,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000560998,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000558649,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000559850,;RABGGTA,downstream_gene_variant,,ENST00000543002,;RABGGTA,upstream_gene_variant,,ENST00000561055,;RABGGTA,downstream_gene_variant,,ENST00000560207,;RABGGTA,downstream_gene_variant,,ENST00000558936,;RABGGTA,downstream_gene_variant,,ENST00000560127,;	A	ENST00000399409	Transcript	missense_variant	1724/2265	1240/1704	414/567	V/L	Gtg/Ttg	rs369378775	1		-1	RABGGTA	HGNC	HGNC:9795	protein_coding	YES	CCDS45088.1	ENSP00000382341	Q92696		UPI000013188E	NM_004581.5	tolerated(0.17)		13/16		hmmpanther:PTHR11129,hmmpanther:PTHR11129:SF2,Gene3D:1.25.40.120,Superfamily_domains:SSF48439																	MODERATE	1	SNV	1			1										PASS		rs369378775	.												A	3	1	77	24267773	24267773	C	A	1	0	0	0	0	1	0	0	0	13126	550	19	1		1	RABGGTA	14	24267773	Missense_Mutation	SNP	C	C3N-01414_TP	1208604	24267773	82775945	378	25084											
CTSG	0	.	GRCh38	chr14	24573657	24573657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaggggggtctccatctGatccagcagtttgaagcttc	8	11	11	11	0	3	2	1	2	2	0	6	2	4	2	2	3	2	3	2	3	1	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.748C>A	p.Gln250Lys	p.Q250K	ENST00000216336	5/5	86	63	23	146	146	0	varscan-mutect	CTSG,missense_variant,p.Gln250Lys,ENST00000216336,NM_001911.2;CTSG,non_coding_transcript_exon_variant,,ENST00000552252,;	T	ENST00000216336	Transcript	missense_variant	785/886	748/768	250/255	Q/K	Cag/Aag		1		-1	CTSG	HGNC	HGNC:2532	protein_coding	YES	CCDS9631.1	ENSP00000216336	P08311		UPI00001270AC	NM_001911.2	tolerated(0.16)		5/5		hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	24573657	24573657	G	T	1	0	0	0	0	1	0	0	0	3844	1299	45	2		2	CTSG	14	24573657	Missense_Mutation	SNP	G	C3N-01414_TP	305884	24573657	82470061	379	25085											
CLEC14A	0	.	GRCh38	chr14	38255607	38255607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaccgcgcatctccgcgcgGtgcaggagcgttggggctcc	4	7	16	14	6	1	0	0	0	1	0	3	1	2	1	3	4	3	5	3	4	1	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.416C>A	p.Thr139Asn	p.T139N	ENST00000342213	1/1	152	115	37	213	213	0	strelka-varscan-mutect	CLEC14A,missense_variant,p.Thr139Asn,ENST00000342213,NM_175060.2;	T	ENST00000342213	Transcript	missense_variant	763/2267	416/1473	139/490	T/N	aCc/aAc		1		-1	CLEC14A	HGNC	HGNC:19832	protein_coding	YES	CCDS9667.1	ENSP00000353013	Q86T13		UPI000000CBD4	NM_175060.2	deleterious(0.01)		1/1		Gene3D:3.10.100.10,PROSITE_profiles:PS50041,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF285,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	77	38255607	38255607	G	T	1	0	0	0	0	1	0	0	0	3265	1261	44	2		2	CLEC14A	14	38255607	Missense_Mutation	SNP	G	C3N-01414_TP	13681950	38255607	68788111	380	25086											
TRAPPC6B	0	.	GRCh38	chr14	39151808	39151808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcccaagtttgataagccaCctctgattaagccacacgta	12	11	6	12	1	1	2	0	2	1	0	2	2	2	2	4	0	2	2	4	0	4	5	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.383G>C	p.Gly128Ala	p.G128A	ENST00000330149	5/6	153	121	32	270	270	0	strelka-varscan-mutect	TRAPPC6B,missense_variant,p.Gly128Ala,ENST00000330149,NM_001079537.1;TRAPPC6B,missense_variant,p.Gly100Ala,ENST00000347691,NM_177452.3;TRAPPC6B,missense_variant,p.Gly99Ala,ENST00000554018,;TRAPPC6B,non_coding_transcript_exon_variant,,ENST00000557764,;TRAPPC6B,3_prime_UTR_variant,,ENST00000555269,;TRAPPC6B,non_coding_transcript_exon_variant,,ENST00000469361,;TRAPPC6B,downstream_gene_variant,,ENST00000556765,;RPL7AP2,upstream_gene_variant,,ENST00000496515,;	G	ENST00000330149	Transcript	missense_variant	610/3242	383/477	128/158	G/A	gGt/gCt		1		-1	TRAPPC6B	HGNC	HGNC:23066	protein_coding	YES	CCDS41947.1	ENSP00000330289	Q86SZ2		UPI000000CC28	NM_001079537.1	deleterious(0)		5/6		Gene3D:3.30.1380.20,Pfam_domain:PF04051,hmmpanther:PTHR12817,hmmpanther:PTHR12817:SF3,Superfamily_domains:SSF111126																	MODERATE	1	SNV	1			1										PASS		rs771251346	.												G	3	3	77	39151808	39151808	C	G	1	0	0	0	0	1	0	0	0	16952	507	18	4		4	TRAPPC6B	14	39151808	Missense_Mutation	SNP	C	C3N-01414_TP	896201	39151808	67891910	381	25087											
FANCM	0	.	GRCh38	chr14	45164555	45164555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattatcctttctgaaggacGagaggaacgtgtaagtagag	13	11	12	5	2	1	3	0	1	1	2	2	6	2	5	1	2	1	2	1	2	6	5			C3N-01414_TP	C3N-01414_NB	G	G																c.1778G>T	p.Arg593Leu	p.R593L	ENST00000267430	10/23	230	178	52	331	330	1	strelka-varscan-mutect	FANCM,missense_variant,p.Arg593Leu,ENST00000267430,NM_020937.2;FANCM,missense_variant,p.Arg567Leu,ENST00000542564,NM_001308133.1;FANCM,missense_variant,p.Arg593Leu,ENST00000556036,NM_001308134.1;FANCM,intron_variant,,ENST00000556250,;	T	ENST00000267430	Transcript	missense_variant	1863/7111	1778/6147	593/2048	R/L	cGa/cTa	COSM553240	1		1	FANCM	HGNC	HGNC:23168	protein_coding	YES	CCDS32070.1	ENSP00000267430	Q8IYD8		UPI000059F032	NM_020937.2	deleterious(0)		10/23		PROSITE_profiles:PS51194,hmmpanther:PTHR14025:SF20,hmmpanther:PTHR14025,Gene3D:3.40.50.300,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	77	45164555	45164555	G	T	1	0	0	0	0	1	0	0	0	5531	1058	37	1		1	FANCM	14	45164555	Missense_Mutation	SNP	G	C3N-01414_TP	6012747	45164555	61879163	382	25088											
RPL10L	0	.	GRCh38	chr14	46651305	46651305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttcaatcacatgctcctcGttctgaagcttggtgcggat	7	13	10	11	2	3	1	2	1	1	0	5	2	4	2	1	2	3	4	1	2	2	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.432C>A	p.Asn144Lys	p.N144K	ENST00000298283	1/1	307	237	70	491	491	0	strelka-varscan-mutect	RPL10L,missense_variant,p.Asn144Lys,ENST00000298283,NM_080746.2;	T	ENST00000298283	Transcript	missense_variant	517/812	432/645	144/214	N/K	aaC/aaA		1		-1	RPL10L	HGNC	HGNC:17976	protein_coding	YES	CCDS32071.1	ENSP00000298283	Q96L21		UPI0000073CA8	NM_080746.2	deleterious(0.04)		1/1		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11726:SF11,hmmpanther:PTHR11726,Pfam_domain:PF00252,TIGRFAM_domain:TIGR00279,Gene3D:3.90.1170.10,PIRSF_domain:PIRSF005590,Superfamily_domains:SSF54686																	MODERATE	1	SNV				1										PASS		rs1464110614	.												T	3	4	77	46651305	46651305	G	T	1	0	0	0	0	1	0	0	0	13808	1136	40	1		1	RPL10L	14	46651305	Missense_Mutation	SNP	G	C3N-01414_TP	1486750	46651305	60392413	383	25089											
TMEM260	0	.	GRCh38	chr14	56647323	56647323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcgcctgtgagcggatGctgcgtcttcaggcaagaga	8	8	14	11	3	2	2	1	1	1	1	3	4	2	3	2	2	3	2	2	2	1	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1950G>T	p.Met650Ile	p.M650I	ENST00000261556	16/16	370	287	83	515	515	0	strelka-varscan-mutect	TMEM260,missense_variant,p.Met650Ile,ENST00000261556,NM_017799.3;TMEM260,intron_variant,,ENST00000555046,;RP11-1085N6.2,intron_variant,,ENST00000553800,;RP11-1085N6.2,intron_variant,,ENST00000555924,;RP11-1085N6.3,downstream_gene_variant,,ENST00000554597,;TMEM260,3_prime_UTR_variant,,ENST00000556422,;TMEM260,3_prime_UTR_variant,,ENST00000539559,;TMEM260,3_prime_UTR_variant,,ENST00000555497,;TMEM260,non_coding_transcript_exon_variant,,ENST00000556648,;	T	ENST00000261556	Transcript	missense_variant	2072/4264	1950/2124	650/707	M/I	atG/atT		1		1	TMEM260	HGNC	HGNC:20185	protein_coding	YES	CCDS9727.2	ENSP00000261556	Q9NX78		UPI00001FD5D2	NM_017799.3	deleterious(0.04)		16/16		hmmpanther:PTHR16214,hmmpanther:PTHR16214:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	77	56647323	56647323	G	T	1	0	0	0	0	1	0	0	0	16621	1319	46	2		2	TMEM260	14	56647323	Missense_Mutation	SNP	G	C3N-01414_TP	9996018	56647323	50396395	384	25090											
KCNH5	0	.	GRCh38	chr14	62707720	62707720	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcagctggatgtcctCtttgagttcgtgtttgactt	5	16	12	8	1	1	3	0	3	1	0	3	4	2	4	1	1	2	5	1	1	0	4	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.2755G>T	p.Glu919Ter	p.E919*	ENST00000322893	11/11	88	61	27	119	119	0	strelka-varscan-mutect	KCNH5,stop_gained,p.Glu919Ter,ENST00000322893,NM_139318.4;KCNH5,3_prime_UTR_variant,,ENST00000420622,NM_172375.2;KCNH5,downstream_gene_variant,,ENST00000394968,;	A	ENST00000322893	Transcript	stop_gained	3024/11290	2755/2967	919/988	E/*	Gag/Tag		1		-1	KCNH5	HGNC	HGNC:6254	protein_coding	YES	CCDS9756.1	ENSP00000321427	Q8NCM2		UPI0000039E2D	NM_139318.4			11/11		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10217:SF533,hmmpanther:PTHR10217																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	77	62707720	62707720	C	A	1	0	0	0	0	0	1	0	0	7951	922	32	2		2	KCNH5	14	62707720	Nonsense_Mutation	SNP	C	C3N-01414_TP	6060397	62707720	44335998	385	25091											
KCNH5	0	.	GRCh38	chr14	62950181	62950181	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcttctccacatctgtggTaggagctatgtttccaaatc	9	14	7	11	0	3	0	0	0	3	0	6	1	4	1	2	2	1	3	2	2	3	4	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.1321A>G	p.Thr441Ala	p.T441A	ENST00000322893	7/11	261	235	26	378	378	0	strelka-varscan-mutect	KCNH5,missense_variant,p.Thr441Ala,ENST00000322893,NM_139318.4;KCNH5,missense_variant,p.Thr441Ala,ENST00000420622,NM_172375.2;KCNH5,missense_variant,p.Thr383Ala,ENST00000394968,;KCNH5,non_coding_transcript_exon_variant,,ENST00000394964,;	C	ENST00000322893	Transcript	missense_variant	1590/11290	1321/2967	441/988	T/A	Acc/Gcc		1		-1	KCNH5	HGNC	HGNC:6254	protein_coding	YES	CCDS9756.1	ENSP00000321427	Q8NCM2		UPI0000039E2D	NM_139318.4	tolerated(0.12)		7/11		Transmembrane_helices:TMhelix,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF533,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	62950181	62950181	T	C	1	0	0	0	0	1	0	0	0	7951	1638	57	5		5	KCNH5	14	62950181	Missense_Mutation	SNP	T	C3N-01414_TP	242461	62950181	44093537	386	25092											
SPTB	0	.	GRCh38	chr14	64775155	64775155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcggagatgacgtagagCtcctgctcgccaatccaggc	9	8	11	13	3	1	3	1	1	0	2	5	4	3	3	3	2	2	3	3	2	2	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.4812G>C	p.Glu1604Asp	p.E1604D	ENST00000556626	23/36	206	159	47	363	363	0	strelka-varscan-mutect	SPTB,missense_variant,p.Glu1604Asp,ENST00000556626,;SPTB,missense_variant,p.Glu1604Asp,ENST00000389722,NM_001024858.2;SPTB,missense_variant,p.Glu1604Asp,ENST00000389721,NM_000347.5;SPTB,missense_variant,p.Glu1604Asp,ENST00000389720,;SPTB,missense_variant,p.Glu269Asp,ENST00000553938,;	G	ENST00000556626	Transcript	missense_variant	4955/10153	4812/6987	1604/2328	E/D	gaG/gaC		1		-1	SPTB	HGNC	HGNC:11274	protein_coding	YES	CCDS32099.1	ENSP00000451752	P11277		UPI000053030D		deleterious(0)		23/36		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF248,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	77	64775155	64775155	C	G	1	0	0	0	0	1	0	0	0	15474	796	28	4		4	SPTB	14	64775155	Missense_Mutation	SNP	C	C3N-01414_TP	1824974	64775155	42268563	387	25093											
SPTB	0	.	GRCh38	chr14	64786847	64786847	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggccctgccacagctcctCcaagtgtttttgccgctgac	6	10	9	16	1	0	1	0	1	0	0	2	1	2	1	5	1	3	3	5	1	1	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.3118G>T	p.Glu1040Ter	p.E1040*	ENST00000556626	16/36	355	277	78	526	525	1	strelka-varscan-mutect	SPTB,stop_gained,p.Glu1040Ter,ENST00000556626,;SPTB,stop_gained,p.Glu1040Ter,ENST00000389722,NM_001024858.2;SPTB,stop_gained,p.Glu1040Ter,ENST00000389721,NM_000347.5;SPTB,stop_gained,p.Glu1040Ter,ENST00000389720,;SPTB,upstream_gene_variant,,ENST00000553938,;SPTB,upstream_gene_variant,,ENST00000622027,;	A	ENST00000556626	Transcript	stop_gained	3261/10153	3118/6987	1040/2328	E/*	Gag/Tag		1		-1	SPTB	HGNC	HGNC:11274	protein_coding	YES	CCDS32099.1	ENSP00000451752	P11277		UPI000053030D				16/36		Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF248,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	HIGH	1	SNV	1			1										PASS		rs1211615857	.												A	4	1	77	64786847	64786847	C	A	1	0	0	0	0	0	1	0	0	15474	864	30	2		2	SPTB	14	64786847	Nonsense_Mutation	SNP	C	C3N-01414_TP	11692	64786847	42256871	388	25094											
PLEKHD1	0	.	GRCh38	chr14	69526786	69526786	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgcagaactcgctgcAggagctgacggcagagaagc	11	4	15	11	2	0	3	0	1	0	2	1	5	0	4	0	3	5	6	0	3	2	0	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1013A>T	p.Gln338Leu	p.Q338L	ENST00000322564	10/13	62	50	12	87	87	0	strelka-varscan-mutect	PLEKHD1,missense_variant,p.Gln338Leu,ENST00000322564,NM_001161498.1;	T	ENST00000322564	Transcript	missense_variant	1225/4865	1013/1521	338/506	Q/L	cAg/cTg		1		1	PLEKHD1	HGNC	HGNC:20148	protein_coding	YES	CCDS53903.1	ENSP00000317175	A6NEE1		UPI0000EE334F	NM_001161498.1	tolerated(0.17)		10/13		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14383,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	69526786	69526786	A	T	1	0	0	0	0	1	0	0	0	12158	188	7	4		4	PLEKHD1	14	69526786	Missense_Mutation	SNP	A	C3N-01414_TP	4739939	69526786	37516932	389	25095											
MLH3	0	.	GRCh38	chr14	75046629	75046629	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtcacctgtggcatcttcTaccggattcattaacattcc	8	14	7	12	1	4	0	2	0	2	0	5	1	5	1	3	3	2	1	3	3	2	5	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.3027A>G	p.=	p.V1009V	ENST00000355774	2/13	410	333	77	716	716	0	strelka-varscan-mutect	MLH3,synonymous_variant,p.=,ENST00000355774,NM_001040108.1;MLH3,synonymous_variant,p.=,ENST00000380968,NM_014381.2;MLH3,synonymous_variant,p.=,ENST00000556740,;MLH3,synonymous_variant,p.=,ENST00000556257,;MLH3,synonymous_variant,p.=,ENST00000553713,;MLH3,downstream_gene_variant,,ENST00000553263,;MLH3,downstream_gene_variant,,ENST00000557648,;MLH3,non_coding_transcript_exon_variant,,ENST00000555671,;MLH3,upstream_gene_variant,,ENST00000555499,;MLH3,synonymous_variant,p.=,ENST00000555144,;MLH3,upstream_gene_variant,,ENST00000556453,;	C	ENST00000355774	Transcript	synonymous_variant	3243/7896	3027/4362	1009/1453	V	gtA/gtG		1		-1	MLH3	HGNC	HGNC:7128	protein_coding	YES	CCDS32123.1	ENSP00000348020	Q9UHC1		UPI00001AEEE0	NM_001040108.1			2/13		hmmpanther:PTHR10073:SF7,hmmpanther:PTHR10073																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	77	75046629	75046629	T	C	1	0	0	0	0	0	0	0	1	9585	1509	53	5		5	MLH3	14	75046629	Silent	SNP	T	C3N-01414_TP	5519843	75046629	31997089	390	25096											
LRRC74A	0	.	GRCh38	chr14	76853345	76853345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatcggtggcaatgacatcGgcaatgaaggggcctccaaa	13	7	12	9	2	0	2	0	2	0	0	3	2	1	2	2	5	0	2	2	5	5	1	rs142713488,rs766259360		C3N-01414_TP	C3N-01414_NB	G	G																c.943G>A	p.Gly315Ser	p.G315S	ENST00000393774	9/14	276	245	31	432	432	0	strelka-varscan-mutect	LRRC74A,missense_variant,p.Gly315Ser,ENST00000393774,NM_194287.2;LRRC74A,3_prime_UTR_variant,,ENST00000484640,;LRRC74A,3_prime_UTR_variant,,ENST00000216450,;	A	ENST00000393774	Transcript	missense_variant	1067/1648	943/1467	315/488	G/S	Ggc/Agc	rs142713488,rs766259360,COSM1198076	1		1	LRRC74A	HGNC	HGNC:23346	protein_coding	YES	CCDS9853.2	ENSP00000377369	Q0VAA2		UPI000155D520	NM_194287.2	tolerated(1)		9/14		hmmpanther:PTHR24114,Pfam_domain:PF13516,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047											0,0,1						MODERATE	1	SNV	1		0,0,1	1										PASS		rs142713488	.												A	3	1	77	76853345	76853345	G	A	1	0	0	0	0	1	0	0	0	8921	1116	39	1		1	LRRC74A	14	76853345	Missense_Mutation	SNP	G	C3N-01414_TP	1806716	76853345	30190373	391	25097											
GPR65	0	.	GRCh38	chr14	88011229	88011229	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttttttttcctaaggacaAgaagatttgcactcatggtc	11	15	8	7	0	1	2	1	0	0	2	3	3	2	3	1	2	1	2	1	2	3	6	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.382A>T	p.Arg128Ter	p.R128*	ENST00000267549	2/2	282	223	59	381	381	0	strelka-varscan-mutect	GPR65,stop_gained,p.Arg128Ter,ENST00000267549,NM_003608.3;RP11-300J18.2,intron_variant,,ENST00000554433,;	T	ENST00000267549	Transcript	stop_gained	940/4522	382/1014	128/337	R/*	Aga/Tga		1		1	GPR65	HGNC	HGNC:4517	protein_coding	YES	CCDS9879.1	ENSP00000267549	Q8IYL9	B5B0C2	UPI000007422C	NM_003608.3			2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01649,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF49,Superfamily_domains:SSF81321																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	77	88011229	88011229	A	T	1	0	0	0	0	0	1	0	0	6589	64	3	4		4	GPR65	14	88011229	Nonsense_Mutation	SNP	A	C3N-01414_TP	11157884	88011229	19032489	392	25098											
MOAP1	0	.	GRCh38	chr14	93184027	93184027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccagggcgtgactagtCtccgcagtaagccctactaa	10	7	12	12	2	1	1	0	1	1	0	2	2	1	2	3	2	2	2	3	2	4	4	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.216G>T	p.Glu72Asp	p.E72D	ENST00000556883	2/2	116	94	22	159	159	0	strelka-varscan-mutect	MOAP1,missense_variant,p.Glu72Asp,ENST00000556883,;MOAP1,missense_variant,p.Glu72Asp,ENST00000298894,NM_022151.4;TMEM251,upstream_gene_variant,,ENST00000415050,NM_001098621.1;TMEM251,upstream_gene_variant,,ENST00000283534,NM_015676.1;RP11-371E8.4,upstream_gene_variant,,ENST00000557574,;RP11-371E8.4,upstream_gene_variant,,ENST00000557048,;RP11-371E8.4,upstream_gene_variant,,ENST00000554824,;	A	ENST00000556883	Transcript	missense_variant	701/2529	216/1056	72/351	E/D	gaG/gaT		1		-1	MOAP1	HGNC	HGNC:16658	protein_coding	YES	CCDS9908.1	ENSP00000451594	Q96BY2		UPI0000037797		tolerated(0.65)		2/2		Pfam_domain:PF14893,hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF14																	MODERATE	1	SNV	2			1										PASS		rs1298207409	.												A	3	1	77	93184027	93184027	C	A	1	0	0	0	0	1	0	0	0	9644	912	32	2		2	MOAP1	14	93184027	Missense_Mutation	SNP	C	C3N-01414_TP	5172798	93184027	13859691	393	25099											
UNC79	0	.	GRCh38	chr14	93673405	93673405	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctagaacttctgcaggccCtaaagctcaaatctccttta	11	13	5	12	0	4	1	1	0	3	1	5	1	4	1	2	1	3	2	2	1	6	6			C3N-01414_TP	C3N-01414_NB	C	C																c.6277C>G	p.Leu2093Val	p.L2093V	ENST00000256339	42/50	197	169	28	338	338	0	strelka-varscan-mutect	UNC79,missense_variant,p.Leu2292Val,ENST00000553484,;UNC79,missense_variant,p.Leu2231Val,ENST00000555664,;UNC79,missense_variant,p.Leu2093Val,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Leu2270Val,ENST00000393151,;UNC79,missense_variant,p.Leu2093Val,ENST00000621021,;	G	ENST00000256339	Transcript	missense_variant	6932/8400	6277/7377	2093/2458	L/V	Cta/Gta	COSM1516236,COSM1516237	1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3	deleterious(0.05)		42/50		hmmpanther:PTHR21696:SF2,hmmpanther:PTHR21696											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1371916622	.												G	3	3	77	93673405	93673405	C	G	1	0	0	0	0	1	0	0	0	17520	680	24	4		4	UNC79	14	93673405	Missense_Mutation	SNP	C	C3N-01414_TP	489378	93673405	13370313	394	25100											
DDX24	0	.	GRCh38	chr14	94062244	94062244	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgttttagatttccagTctgctctttatcaagatttt	7	20	5	9	0	3	2	1	0	2	2	5	2	5	2	2	0	1	2	2	0	3	7	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.1096A>G	p.Thr366Ala	p.T366A	ENST00000621632	3/9	289	229	60	464	464	0	strelka-varscan-mutect	DDX24,missense_variant,p.Thr366Ala,ENST00000621632,NM_020414.3;DDX24,missense_variant,p.Thr323Ala,ENST00000555054,;DDX24,missense_variant,p.Thr311Ala,ENST00000330836,;DDX24,missense_variant,p.Thr116Ala,ENST00000544005,;DDX24,5_prime_UTR_variant,,ENST00000622786,;DDX24,non_coding_transcript_exon_variant,,ENST00000555762,;	C	ENST00000621632	Transcript	missense_variant	1228/5612	1096/2580	366/859	T/A	Act/Gct		1		-1	DDX24	HGNC	HGNC:13266	protein_coding	YES	CCDS9918.1	ENSP00000481495	Q9GZR7		UPI0000129082	NM_020414.3	tolerated(0.83)		3/9		PROSITE_profiles:PS51192,Pfam_domain:PF00270,SMART_domains:SM00487																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	94062244	94062244	T	C	1	0	0	0	0	1	0	0	0	4154	1667	58	5		5	DDX24	14	94062244	Missense_Mutation	SNP	T	C3N-01414_TP	388839	94062244	12981474	395	25101											
SERPINA6	0	.	GRCh38	chr14	94314592	94314592	+	Silent	SNP	G	G	T																															ttaggatccatggcctggacGgtccagaggccgctggtggg																								rs780068867		C3N-01414_TP	C3N-01414_NB	G	G																c.57C>A	p.=	p.T19T	ENST00000341584	2/5	276	227	49	410	410	0	strelka-varscan-mutect	SERPINA6,synonymous_variant,p.=,ENST00000341584,NM_001756.3;SERPINA6,synonymous_variant,p.=,ENST00000557225,;SERPINA6,synonymous_variant,p.=,ENST00000555056,;	T	ENST00000341584	Transcript	synonymous_variant	204/1534	57/1218	19/405	T	acC/acA	rs780068867,COSM1516194,COSM1516195	1		-1	SERPINA6	HGNC	HGNC:1540	protein_coding	YES	CCDS9924.1	ENSP00000342850	P08185		UPI0000127182	NM_001756.3			2/5		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11461:SF34,hmmpanther:PTHR11461,Superfamily_domains:SSF56574											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs780068867	.												T	2	4	77	94314592	94314592	G	T	1	0	0	0	0	0	0	0	1	14369	1103	39	1		1	SERPINA6	14	94314592	Silent	SNP	G	C3N-01414_TP	252348	94314592	12729126	396	25102	526	2									
SERPINA6	0	.	GRCh38	chr14	94314593	94314593	+	Missense_Mutation	SNP	G	G	T																															taggatccatggcctggacgGtccagaggccgctggtgggc																										C3N-01414_TP	C3N-01414_NB	G	G																c.56C>A	p.Thr19Asn	p.T19N	ENST00000341584	2/5	277	227	50	416	416	0	strelka-varscan-mutect	SERPINA6,missense_variant,p.Thr19Asn,ENST00000341584,NM_001756.3;SERPINA6,missense_variant,p.Thr19Asn,ENST00000557225,;SERPINA6,missense_variant,p.Thr19Asn,ENST00000555056,;	T	ENST00000341584	Transcript	missense_variant	203/1534	56/1218	19/405	T/N	aCc/aAc	COSM4902411,COSM4902412	1		-1	SERPINA6	HGNC	HGNC:1540	protein_coding	YES	CCDS9924.1	ENSP00000342850	P08185		UPI0000127182	NM_001756.3	deleterious(0.04)		2/5		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11461:SF34,hmmpanther:PTHR11461,Superfamily_domains:SSF56574											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	77	94314593	94314593	G	T	1	0	0	0	0	1	0	0	0	14369	1261	44	2		2	SERPINA6	14	94314593	Missense_Mutation	SNP	G	C3N-01414_TP	1	94314593	12729125	397	25103	526	2									
SERPINA5	0	.	GRCh38	chr14	94590756	94590756	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctttccaggcagctcGagctttaccttcccaaattc	7	14	5	15	1	0	0	0	0	0	0	5	1	3	0	4	1	3	3	4	1	2	6	rs757910699		C3N-01414_TP	C3N-01414_NB	G	G																c.898G>T	p.Glu300Ter	p.E300*	ENST00000329597	5/6	74	56	18	114	114	0	varscan-mutect	SERPINA5,stop_gained,p.Glu300Ter,ENST00000329597,NM_000624.5;SERPINA5,stop_gained,p.Glu300Ter,ENST00000554866,;SERPINA5,stop_gained,p.Glu300Ter,ENST00000554276,;SERPINA5,stop_gained,p.Glu300Ter,ENST00000553780,;SERPINA5,downstream_gene_variant,,ENST00000554760,;SERPINA5,downstream_gene_variant,,ENST00000556775,;SERPINA5,downstream_gene_variant,,ENST00000555681,;SERPINA5,downstream_gene_variant,,ENST00000557598,;SERPINA5,downstream_gene_variant,,ENST00000554220,;SERPINA5,downstream_gene_variant,,ENST00000553511,;SERPINA5,downstream_gene_variant,,ENST00000554633,;SERPINA5,downstream_gene_variant,,ENST00000556064,;SERPINA5,non_coding_transcript_exon_variant,,ENST00000556730,;SERPINA3,upstream_gene_variant,,ENST00000553947,;	T	ENST00000329597	Transcript	stop_gained	1133/2337	898/1221	300/406	E/*	Gag/Tag	rs757910699	1		1	SERPINA5	HGNC	HGNC:8723	protein_coding	YES	CCDS9928.1	ENSP00000333203	P05154	A0A024R6N9	UPI000013E52C	NM_000624.5			5/6		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF176,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	HIGH	1	SNV	1			1										PASS		rs757910699	.												T	4	4	77	94590756	94590756	G	T	1	0	0	0	0	0	1	0	0	14368	1059	37	1		1	SERPINA5	14	94590756	Nonsense_Mutation	SNP	G	C3N-01414_TP	276163	94590756	12452962	398	25104											
EML1	0	.	GRCh38	chr14	99914635	99914635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttcttgacctgtgggcatGacaagcatgccactctctgg	8	11	11	11	0	2	2	0	2	2	0	3	2	2	2	2	2	2	3	2	2	1	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1747G>A	p.Asp583Asn	p.D583N	ENST00000334192	16/23	180	156	24	239	239	0	strelka-varscan-mutect	EML1,missense_variant,p.Asp564Asn,ENST00000262233,NM_004434.2;EML1,missense_variant,p.Asp583Asn,ENST00000334192,NM_001008707.1;EML1,missense_variant,p.Asp552Asn,ENST00000327921,;EML1,downstream_gene_variant,,ENST00000554386,;EML1,downstream_gene_variant,,ENST00000555812,;EML1,missense_variant,p.Asp21Asn,ENST00000557313,;EML1,non_coding_transcript_exon_variant,,ENST00000554111,;EML1,downstream_gene_variant,,ENST00000554553,;	A	ENST00000334192	Transcript	missense_variant	1881/4064	1747/2505	583/834	D/N	Gac/Aac		1		1	EML1	HGNC	HGNC:3330	protein_coding	YES	CCDS32154.1	ENSP00000334314	O00423		UPI00004A074E	NM_001008707.1	deleterious(0.02)		16/23		Gene3D:2.130.10.10,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF22,SMART_domains:SM00320,Superfamily_domains:SSF50998																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	77	99914635	99914635	G	A	1	0	0	0	0	1	0	0	0	4939	1290	45	3		3	EML1	14	99914635	Missense_Mutation	SNP	G	C3N-01414_TP	5323879	99914635	7129083	399	25105											
TECPR2	0	.	GRCh38	chr14	102449656	102449656	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacggactatgtggtgtttGaccagtgcagcttatttcag	8	14	11	8	1	2	1	2	1	0	0	2	2	2	2	1	2	2	3	1	2	2	4	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.3103G>C	p.Asp1035His	p.D1035H	ENST00000359520	14/20	241	168	73	312	312	0	strelka-varscan-mutect	TECPR2,missense_variant,p.Asp1035His,ENST00000359520,NM_014844.3;TECPR2,missense_variant,p.Asp1035His,ENST00000558678,NM_001172631.1;TECPR2,downstream_gene_variant,,ENST00000557786,;	C	ENST00000359520	Transcript	missense_variant	3329/8686	3103/4236	1035/1411	D/H	Gac/Cac		1		1	TECPR2	HGNC	HGNC:19957	protein_coding	YES	CCDS32162.1	ENSP00000352510	O15040		UPI00001FDC38	NM_014844.3	deleterious(0)		14/20		hmmpanther:PTHR23287,hmmpanther:PTHR23287:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	102449656	102449656	G	C	1	0	0	0	0	1	0	0	0	16155	1290	45	4		4	TECPR2	14	102449656	Missense_Mutation	SNP	G	C3N-01414_TP	2535021	102449656	4594062	400	25106											
C14orf180	0	.	GRCh38	chr14	104588690	104588690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggccaagcccgtggcaacGgcactggaggacctgcgggc	7	3	17	14	4	0	0	0	0	0	0	0	2	0	2	3	6	3	2	3	6	2	0	rs529444309		C3N-01414_TP	C3N-01414_NB	G	G																c.346G>T	p.Gly116Cys	p.G116C	ENST00000331952	5/5	136	103	33	194	194	0	strelka-varscan-mutect	C14orf180,missense_variant,p.Gly116Cys,ENST00000331952,NM_001286399.1;C14orf180,synonymous_variant,p.=,ENST00000557649,NM_001008404.2;C14orf180,synonymous_variant,p.=,ENST00000410013,NM_001286400.1;TMEM179,intron_variant,,ENST00000415614,;TMEM179,downstream_gene_variant,,ENST00000616017,;TMEM179,downstream_gene_variant,,ENST00000556573,NM_001286389.1;TMEM179,downstream_gene_variant,,ENST00000556320,;RP11-614O9.1,downstream_gene_variant,,ENST00000556073,;	T	ENST00000331952	Transcript	missense_variant	602/1455	346/534	116/177	G/C	Ggc/Tgc	rs529444309	1		1	C14orf180	HGNC	HGNC:33795	protein_coding	YES	CCDS66722.1	ENSP00000333041		J3KNP8	UPI00021CF38C	NM_001286399.1	deleterious_low_confidence(0)		5/5		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		rs529444309	.												T	3	4	77	104588690	104588690	G	T	1	0	0	0	0	1	0	0	0	1835	1103	39	1		1	C14orf180	14	104588690	Missense_Mutation	SNP	G	C3N-01414_TP	2139034	104588690	2455028	401	25107											
AHNAK2	0	.	GRCh38	chr14	104943841	104943841	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcacgtggccctccaggagTttcatgtccacctggcgagc	6	8	13	14	2	1	0	1	0	0	0	3	2	3	1	4	4	1	2	4	4	0	1	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.11610A>T	p.Lys3870Asn	p.K3870N	ENST00000333244	7/7	331	262	69	528	526	2	strelka-varscan-mutect	AHNAK2,missense_variant,p.Lys3870Asn,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	A	ENST00000333244	Transcript	missense_variant	11730/18254	11610/17388	3870/5795	K/N	aaA/aaT		1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	deleterious(0.01)		7/7		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37																	MODERATE	1	SNV	5			1										PASS		rs1248596233	.												A	3	1	77	104943841	104943841	T	A	1	0	0	0	0	1	0	0	0	492	1722	60	4		4	AHNAK2	14	104943841	Missense_Mutation	SNP	T	C3N-01414_TP	355151	104943841	2099877	402	25108											
GOLGA6L2	0	.	GRCh38	chr15	23440855	23440855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctccacatcttcctgctcCcgcatcttctcctgccgcca	4	12	5	20	2	4	0	0	0	4	0	8	0	6	0	6	0	2	2	6	0	0	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1620G>A	p.=	p.R540R	ENST00000567107	8/8	321	290	31	554	553	1	varscan-mutect	GOLGA6L2,synonymous_variant,p.=,ENST00000567107,NM_001304388.1;GOLGA6L2,synonymous_variant,p.=,ENST00000345070,;GOLGA6L2,intron_variant,,ENST00000312015,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,;	T	ENST00000567107	Transcript	synonymous_variant	1673/3030	1620/2730	540/909	R	cgG/cgA		1		-1	GOLGA6L2	HGNC	HGNC:26695	protein_coding	YES	CCDS76728.1	ENSP00000454407		H3BMJ4	UPI00024672CE	NM_001304388.1			8/8		hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF11																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	77	23440855	23440855	C	T	1	0	0	0	0	0	0	0	1	6440	610	22	3		3	GOLGA6L2	15	23440855	Silent	SNP	C	C3N-01414_TP		23440855	78550334	403	25109											
NDN	0	.	GRCh38	chr15	23687100	23687100	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaggagggctctgcggctCtgccagggtcgcggacggag	6	6	19	10	4	2	1	0	0	2	1	3	4	2	4	1	6	2	2	1	6	1	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.118G>T	p.Glu40Ter	p.E40*	ENST00000331837	1/1	114	102	12	188	188	0	strelka-varscan-mutect	NDN,stop_gained,p.Glu40Ter,ENST00000331837,NM_002487.2;	A	ENST00000331837	Transcript	stop_gained	231/1931	118/966	40/321	E/*	Gag/Tag		1		-1	NDN	HGNC	HGNC:7675	protein_coding	YES	CCDS10014.1	ENSP00000332643	Q99608	X5D982	UPI000012FEF1	NM_002487.2			1/1		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF10																	HIGH	1	SNV				1										PASS		rs1308499928	.												A	4	1	77	23687100	23687100	C	A	1	0	0	0	0	0	1	0	0	10268	922	32	2		2	NDN	15	23687100	Nonsense_Mutation	SNP	C	C3N-01414_TP	246245	23687100	78304089	404	25110											
GANC	0	.	GRCh38	chr15	42306572	42306572	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagaagatctgggcctgtgGgaagagaaatttggaaaatt	15	9	13	4	0	1	3	0	0	1	3	1	6	1	5	1	3	0	0	1	3	6	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.585G>A	p.Trp195Ter	p.W195*	ENST00000318010	7/24	127	115	12	233	231	2	strelka-varscan-mutect	GANC,stop_gained,p.Trp195Ter,ENST00000318010,NM_198141.2;GANC,stop_gained,p.Trp195Ter,ENST00000566442,NM_001301409.1;GANC,non_coding_transcript_exon_variant,,ENST00000567421,;	A	ENST00000318010	Transcript	stop_gained	825/7781	585/2745	195/914	W/*	tgG/tgA		1		1	GANC	HGNC	HGNC:4139	protein_coding	YES	CCDS10084.1	ENSP00000326227	Q8TET4		UPI00001FE303	NM_198141.2			7/24		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF60																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	77	42306572	42306572	G	A	1	0	0	0	0	0	1	0	0	6102	1241	43	3		3	GANC	15	42306572	Nonsense_Mutation	SNP	G	C3N-01414_TP	18619472	42306572	59684617	405	25111											
DUOXA1	0	.	GRCh38	chr15	45119264	45119264	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggactccactccagcaTggggtcttcatccacactct	8	10	7	16	0	4	0	2	0	2	0	7	1	7	1	3	3	1	1	3	3	0	1	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.874A>T	p.Met292Leu	p.M292L	ENST00000267803	9/11	146	126	20	227	227	0	strelka-varscan-mutect	DUOXA1,missense_variant,p.Met247Leu,ENST00000558996,NM_001276268.1;DUOXA1,missense_variant,p.Met292Leu,ENST00000267803,NM_144565.3;DUOXA1,missense_variant,p.Met292Leu,ENST00000559014,NM_001276264.1;DUOXA1,missense_variant,p.Met247Leu,ENST00000613425,;DUOXA1,missense_variant,p.Met247Leu,ENST00000558422,NM_001276267.1;DUOXA1,missense_variant,p.Met247Leu,ENST00000430224,NM_001276265.1;DUOXA1,missense_variant,p.Met292Leu,ENST00000560572,NM_001276266.1;DUOX2,upstream_gene_variant,,ENST00000389039,;DUOXA2,downstream_gene_variant,,ENST00000323030,NM_207581.3;DUOXA1,downstream_gene_variant,,ENST00000559644,;DUOXA1,downstream_gene_variant,,ENST00000558377,;DUOXA1,downstream_gene_variant,,ENST00000559226,;DUOXA1,downstream_gene_variant,,ENST00000558326,;DUOXA1,downstream_gene_variant,,ENST00000558851,;DUOXA1,downstream_gene_variant,,ENST00000559988,;DUOXA1,3_prime_UTR_variant,,ENST00000559013,;DUOXA2,downstream_gene_variant,,ENST00000491993,;DUOXA2,downstream_gene_variant,,ENST00000350243,;	A	ENST00000267803	Transcript	missense_variant	1274/1996	874/1452	292/483	M/L	Atg/Ttg		1		-1	DUOXA1	HGNC	HGNC:26507	protein_coding	YES	CCDS10119.1	ENSP00000267803	Q1HG43	A8K9Q6	UPI000006D4D4	NM_144565.3	tolerated(0.43)		9/11		hmmpanther:PTHR31158,hmmpanther:PTHR31158:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	45119264	45119264	T	A	1	0	0	0	0	1	0	0	0	4624	1464	51	4		4	DUOXA1	15	45119264	Missense_Mutation	SNP	T	C3N-01414_TP	2812692	45119264	56871925	406	25112											
USP50	0	.	GRCh38	chr15	50544634	50544635	+	Frame_Shift_Ins	INS	-	-	A																															tgagaaagtattccaccagcINSggcaagatgctgcagagaca																								novel		C3N-01414_TP	C3N-01414_NB	-	-																c.200_201insT	p.Leu68AlafsTer20	p.L68Afs*20	ENST00000532404	2/7	161	139	22	270	270	0	sindel-pindel	USP50,frameshift_variant,p.Leu68AlafsTer17,ENST00000616326,;USP50,frameshift_variant,p.Leu68AlafsTer20,ENST00000532404,NM_203494.4;USP50,intron_variant,,ENST00000530218,;USP50,intron_variant,,ENST00000559105,;	A	ENST00000532404	Transcript	frameshift_variant	374-375/1386	200-201/1005	67/334	P/PX	ccg/ccTg		1		-1	USP50	HGNC	HGNC:20079	protein_coding	YES	CCDS53944.1	ENSP00000434676	Q70EL3		UPI0001CB7F8F	NM_203494.4			2/7		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	HIGH	1	insertion	5			1										PASS		.	.												A	7	5	77	50544634	50544634	-	A	1	0	1	1	0	0	0	0	0	17625	755	27	0		0	USP50	15	50544634	Frame_Shift_Ins	INS	-	C3N-01414_TP	5425370	50544634	51446555	407	25113											
MYO5A	0	.	GRCh38	chr15	52383134	52383134	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcttgatacagcgcacatAgtgaggggtagtggcattga	11	9	15	6	1	0	3	0	3	0	0	0	3	0	3	0	4	2	4	0	4	3	5	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1969T>G	p.Tyr657Asp	p.Y657D	ENST00000399231	16/41	349	330	19	587	586	1	strelka-varscan-mutect	MYO5A,missense_variant,p.Tyr657Asp,ENST00000399231,NM_000259.3;MYO5A,missense_variant,p.Tyr657Asp,ENST00000358212,;MYO5A,missense_variant,p.Tyr657Asp,ENST00000399233,;MYO5A,missense_variant,p.Tyr657Asp,ENST00000613858,;MYO5A,missense_variant,p.Tyr657Asp,ENST00000356338,NM_001142495.1;MYO5A,missense_variant,p.Tyr657Asp,ENST00000553916,;MYO5A,3_prime_UTR_variant,,ENST00000556196,;MYO5A,downstream_gene_variant,,ENST00000469611,;	C	ENST00000399231	Transcript	missense_variant	2213/12225	1969/5568	657/1855	Y/D	Tat/Gat		1		-1	MYO5A	HGNC	HGNC:7602	protein_coding	YES	CCDS42037.1	ENSP00000382177	Q9Y4I1		UPI0000E445E1	NM_000259.3	deleterious(0.01)		16/41		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF273,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1393726283	.												C	3	2	77	52383134	52383134	A	C	1	0	0	0	0	1	0	0	0	10079	420	15	5		5	MYO5A	15	52383134	Missense_Mutation	SNP	A	C3N-01414_TP	1838500	52383134	49608055	408	25114											
RFX7	0	.	GRCh38	chr15	56093537	56093537	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatttgggtctaaagtgttCaaatcattgatgctgcctga	11	14	10	6	0	3	3	2	2	1	1	3	3	3	3	1	1	2	2	1	1	3	4	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.3900G>C	p.Leu1300Phe	p.L1300F	ENST00000559447	9/9	110	84	26	176	176	0	strelka-varscan-mutect	RFX7,missense_variant,p.Leu1300Phe,ENST00000559447,NM_022841.5;RFX7,intron_variant,,ENST00000559847,;	G	ENST00000559447	Transcript	missense_variant	4172/10426	3900/4092	1300/1363	L/F	ttG/ttC		1		-1	RFX7	HGNC	HGNC:25777	protein_coding	YES		ENSP00000453281	Q2KHR2		UPI0000695D7E	NM_022841.5	deleterious(0)		9/9		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	77	56093537	56093537	C	G	1	0	0	0	0	1	0	0	0	13442	825	29	4		4	RFX7	15	56093537	Missense_Mutation	SNP	C	C3N-01414_TP	3710403	56093537	45897652	409	25115											
CCNB2	0	.	GRCh38	chr15	59114574	59114574	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccctcagctctgcagtgActacgttaaggatatctatc	11	11	8	11	1	3	1	1	1	2	0	4	3	3	2	1	1	4	3	1	1	5	4	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.398A>T	p.Asp133Val	p.D133V	ENST00000288207	4/9	60	47	13	102	102	0	strelka-varscan-mutect	CCNB2,missense_variant,p.Asp133Val,ENST00000621385,;CCNB2,missense_variant,p.Asp133Val,ENST00000288207,NM_004701.3;CCNB2,missense_variant,p.Asp52Val,ENST00000559622,;RP11-59H7.4,downstream_gene_variant,,ENST00000619686,;CCNB2,non_coding_transcript_exon_variant,,ENST00000561077,;CCNB2,upstream_gene_variant,,ENST00000559301,;	T	ENST00000288207	Transcript	missense_variant	589/1556	398/1197	133/398	D/V	gAc/gTc		1		1	CCNB2	HGNC	HGNC:1580	protein_coding	YES	CCDS10170.1	ENSP00000288207	O95067		UPI00001275B3	NM_004701.3	deleterious(0.02)		4/9		hmmpanther:PTHR10177:SF184,hmmpanther:PTHR10177,PIRSF_domain:PIRSF001771,Superfamily_domains:SSF47954																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	59114574	59114574	A	T	1	0	0	0	0	1	0	0	0	2612	275	10	4		4	CCNB2	15	59114574	Missense_Mutation	SNP	A	C3N-01414_TP	3021037	59114574	42876615	410	25116											
TLE3	0	.	GRCh38	chr15	70096160	70096160	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcggcccccaccggccttaCctgtgatactgagcttgcag	6	8	12	15	2	0	2	0	2	0	0	0	2	0	2	5	3	4	2	5	3	2	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.125+1G>A		p.X42_splice	ENST00000558939		77	55	22	134	134	0	strelka-varscan-mutect	TLE3,splice_donor_variant,,ENST00000558939,NM_005078.3;TLE3,splice_donor_variant,,ENST00000627388,;TLE3,splice_donor_variant,,ENST00000317509,NM_020908.2;TLE3,splice_donor_variant,,ENST00000557997,NM_001282979.1;TLE3,splice_donor_variant,,ENST00000559929,;TLE3,splice_donor_variant,,ENST00000560939,;TLE3,splice_donor_variant,,ENST00000559048,;TLE3,splice_donor_variant,,ENST00000558201,;TLE3,splice_donor_variant,,ENST00000440567,NM_001282981.1;TLE3,splice_donor_variant,,ENST00000451782,NM_001105192.2;TLE3,splice_donor_variant,,ENST00000558379,NM_001282980.1;TLE3,splice_donor_variant,,ENST00000557907,;TLE3,splice_donor_variant,,ENST00000560996,;TLE3,intron_variant,,ENST00000559191,;TLE3,upstream_gene_variant,,ENST00000560589,;TLE3,upstream_gene_variant,,ENST00000539550,NM_001282982.1;TLE3,upstream_gene_variant,,ENST00000557984,;TLE3,downstream_gene_variant,,ENST00000559574,;TLE3,splice_donor_variant,,ENST00000557919,;TLE3,splice_donor_variant,,ENST00000561453,;TLE3,splice_donor_variant,,ENST00000560525,;	T	ENST00000558939	Transcript	splice_donor_variant	-/6004	125/2319	42/772				1		-1	TLE3	HGNC	HGNC:11839	protein_coding	YES	CCDS45293.1	ENSP00000452871	Q04726		UPI000013703A	NM_005078.3				2/19																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	77	70096160	70096160	C	T	1	0	0	0	0	0	0	1	0	16386	521	18	3		3	TLE3	15	70096160	Splice_Site	SNP	C	C3N-01414_TP	10981586	70096160	31895029	411	25117											
LARP6	0	.	GRCh38	chr15	70832179	70832179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgggagagcaggggactcGtaccggggcttttctcctgg	5	9	16	11	3	1	1	0	0	1	1	4	3	2	2	3	6	2	3	3	6	1	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1349C>A	p.Thr450Lys	p.T450K	ENST00000299213	3/3	91	80	11	137	137	0	strelka-varscan-mutect	LARP6,missense_variant,p.Thr450Lys,ENST00000299213,NM_018357.3;LARP6,downstream_gene_variant,,ENST00000559316,;	T	ENST00000299213	Transcript	missense_variant	1420/4469	1349/1476	450/491	T/K	aCg/aAg		1		-1	LARP6	HGNC	HGNC:24012	protein_coding	YES	CCDS32281.1	ENSP00000299213	Q9BRS8		UPI0000073C63	NM_018357.3	tolerated(0.59)		3/3		hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF71																	MODERATE	1	SNV	1			1										PASS		rs1281107814	.												T	3	4	77	70832179	70832179	G	T	1	0	0	0	0	1	0	0	0	8543	1145	40	1		1	LARP6	15	70832179	Missense_Mutation	SNP	G	C3N-01414_TP	736019	70832179	31159010	412	25118											
THSD4	0	.	GRCh38	chr15	71731141	71731141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgatacaccagcagccaaaCccaggcgtgcactacgagta	14	5	9	13	2	0	1	0	1	0	0	0	2	0	1	3	1	6	3	3	1	4	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1554C>A	p.Asn518Lys	p.N518K	ENST00000355327	10/18	221	200	21	340	339	1	strelka-varscan-mutect	THSD4,missense_variant,p.Asn518Lys,ENST00000355327,NM_024817.2;THSD4,missense_variant,p.Asn158Lys,ENST00000357769,NM_001286429.1;THSD4,intron_variant,,ENST00000261862,;THSD4,non_coding_transcript_exon_variant,,ENST00000567838,;THSD4,non_coding_transcript_exon_variant,,ENST00000567776,;THSD4,non_coding_transcript_exon_variant,,ENST00000567745,;	A	ENST00000355327	Transcript	missense_variant	1688/9200	1554/3057	518/1018	N/K	aaC/aaA		1		1	THSD4	HGNC	HGNC:25835	protein_coding	YES	CCDS10238.2	ENSP00000347484	Q6ZMP0		UPI00001A797D	NM_024817.2	deleterious(0)		10/18		hmmpanther:PTHR13723,Pfam_domain:PF05986																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	77	71731141	71731141	C	A	1	0	0	0	0	1	0	0	0	16312	506	18	2		2	THSD4	15	71731141	Missense_Mutation	SNP	C	C3N-01414_TP	898962	71731141	30260048	413	25119											
REC114	0	.	GRCh38	chr15	73443212	73443212	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggcaggaaaagtgcccttGagcctcgggcttaccggagg	9	6	16	10	2	0	1	0	1	0	0	1	4	0	3	3	5	3	2	3	5	3	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.27G>C	p.Leu9Phe	p.L9F	ENST00000331090	1/6	116	99	17	189	189	0	strelka-varscan-mutect	REC114,missense_variant,p.Leu9Phe,ENST00000331090,NM_001042367.1;REC114,missense_variant,p.Leu9Phe,ENST00000560581,;	C	ENST00000331090	Transcript	missense_variant	55/927	27/801	9/266	L/F	ttG/ttC		1		1	REC114	HGNC	HGNC:25065	protein_coding	YES	CCDS45296.1	ENSP00000328423	Q7Z4M0		UPI0000161A3A	NM_001042367.1	tolerated(0.42)		1/6		hmmpanther:PTHR34921																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	73443212	73443212	G	C	1	0	0	0	0	1	0	0	0	13368	1281	45	4		4	REC114	15	73443212	Missense_Mutation	SNP	G	C3N-01414_TP	1712071	73443212	28547977	414	25120											
CYP11A1	0	.	GRCh38	chr15	74338080	74338080	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatcgctgaggtgttggatTtcaactctgaagttctccag	9	13	10	9	1	3	2	1	2	2	0	5	3	3	3	1	2	1	3	1	2	2	3	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.1458A>T	p.Glu486Asp	p.E486D	ENST00000268053	9/9	349	304	45	624	624	0	strelka-varscan-mutect	CYP11A1,missense_variant,p.Glu328Asp,ENST00000358632,NM_001099773.1;CYP11A1,missense_variant,p.Glu486Asp,ENST00000268053,NM_000781.2;CCDC33,downstream_gene_variant,,ENST00000398814,NM_025055.4;CCDC33,downstream_gene_variant,,ENST00000558659,;CCDC33,downstream_gene_variant,,ENST00000268082,NM_182791.3;CCDC33,downstream_gene_variant,,ENST00000558821,NM_001287181.1;CYP11A1,downstream_gene_variant,,ENST00000566674,;CYP11A1,3_prime_UTR_variant,,ENST00000435365,;CYP11A1,non_coding_transcript_exon_variant,,ENST00000498141,;CCDC33,downstream_gene_variant,,ENST00000321374,;CCDC33,downstream_gene_variant,,ENST00000560565,;	A	ENST00000268053	Transcript	missense_variant	1613/1934	1458/1566	486/521	E/D	gaA/gaT		1		-1	CYP11A1	HGNC	HGNC:2590	protein_coding	YES	CCDS32291.1	ENSP00000268053	P05108	A0A0S2Z3R3	UPI00000725F7	NM_000781.2	tolerated(0.11)		9/9		hmmpanther:PTHR24279:SF3,hmmpanther:PTHR24279,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	74338080	74338080	T	A	1	0	0	0	0	1	0	0	0	3947	1838	64	4		4	CYP11A1	15	74338080	Missense_Mutation	SNP	T	C3N-01414_TP	894868	74338080	27653109	415	25121											
SCAMP5	0	.	GRCh38	chr15	75018463	75018463	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcggaacgaacattggctcGgcggtggtgatgctaattcc	8	11	13	9	4	0	1	0	1	0	0	3	3	1	2	1	5	3	2	1	5	3	4	rs748929504		C3N-01414_TP	C3N-01414_NB	G	G																c.441G>T	p.=	p.S147S	ENST00000361900	7/8	154	135	19	274	274	0	strelka-varscan-mutect	SCAMP5,synonymous_variant,p.=,ENST00000361900,NM_001178111.1;SCAMP5,synonymous_variant,p.=,ENST00000425597,NM_138967.3,NM_001178112.1;SCAMP5,synonymous_variant,p.=,ENST00000562212,;SCAMP5,synonymous_variant,p.=,ENST00000568081,;SCAMP5,synonymous_variant,p.=,ENST00000564779,;SCAMP5,downstream_gene_variant,,ENST00000568018,;SCAMP5,downstream_gene_variant,,ENST00000567920,;SCAMP5,downstream_gene_variant,,ENST00000562327,;SCAMP5,downstream_gene_variant,,ENST00000566872,;SCAMP5,downstream_gene_variant,,ENST00000565989,;SCAMP5,downstream_gene_variant,,ENST00000565923,;SCAMP5,downstream_gene_variant,,ENST00000564141,;SCAMP5,3_prime_UTR_variant,,ENST00000562765,;SCAMP5,3_prime_UTR_variant,,ENST00000568423,;SCAMP5,3_prime_UTR_variant,,ENST00000567529,;SCAMP5,3_prime_UTR_variant,,ENST00000564491,;RP11-151H2.1,upstream_gene_variant,,ENST00000565251,;	T	ENST00000361900	Transcript	synonymous_variant	648/3427	441/708	147/235	S	tcG/tcT	rs748929504	1		1	SCAMP5	HGNC	HGNC:30386	protein_coding	YES	CCDS45306.1	ENSP00000355387	Q8TAC9	A0A0A8K8F5	UPI00000700E5	NM_001178111.1			7/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR10687:SF5,hmmpanther:PTHR10687,Pfam_domain:PF04144																	LOW	1	SNV	2			1										PASS		rs748929504	.												T	2	4	77	75018463	75018463	G	T	1	0	0	0	0	0	0	0	1	14141	1103	39	1		1	SCAMP5	15	75018463	Silent	SNP	G	C3N-01414_TP	680383	75018463	26972726	416	25122											
PEAK1	0	.	GRCh38	chr15	77114253	77114253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcctcaaggctgattccaCcttccctgtccagggacttc	7	11	8	15	0	1	1	1	1	0	0	6	2	5	2	5	2	0	1	5	2	1	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.5144G>T	p.Gly1715Val	p.G1715V	ENST00000560626	7/7	240	181	59	440	439	1	strelka-varscan-mutect	PEAK1,missense_variant,p.Gly1715Val,ENST00000560626,;PEAK1,missense_variant,p.Gly1715Val,ENST00000312493,NM_024776.3;	A	ENST00000560626	Transcript	missense_variant	5620/19217	5144/5241	1715/1746	G/V	gGt/gTt		1		-1	PEAK1	HGNC	HGNC:29431	protein_coding	YES	CCDS42062.1	ENSP00000452796	Q9H792		UPI00002378D0		tolerated(0.51)		7/7		hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	77	77114253	77114253	C	A	1	0	0	0	0	1	0	0	0	11800	507	18	2		2	PEAK1	15	77114253	Missense_Mutation	SNP	C	C3N-01414_TP	2095790	77114253	24876936	417	25123											
ANKRD34C	0	.	GRCh38	chr15	79293429	79293429	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggcgaaacagctctcAtggtggcgtgcatcaccaaa	14	6	10	11	2	2	0	2	0	1	0	3	1	2	0	1	3	3	2	1	3	3	0	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.145A>T	p.Met49Leu	p.M49L	ENST00000421388	1/1	139	103	36	236	236	0	strelka-varscan-mutect	ANKRD34C,missense_variant,p.Met49Leu,ENST00000421388,NM_001146341.1;	T	ENST00000421388	Transcript	missense_variant	145/4951	145/1608	49/535	M/L	Atg/Ttg		1		1	ANKRD34C	HGNC	HGNC:33888	protein_coding	YES	CCDS53965.1	ENSP00000401089	P0C6C1		UPI0000160A7F	NM_001146341.1	deleterious(0.01)		1/1		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24157,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	77	79293429	79293429	A	T	1	0	0	0	0	1	0	0	0	769	217	8	4		4	ANKRD34C	15	79293429	Missense_Mutation	SNP	A	C3N-01414_TP	2179176	79293429	22697760	418	25124											
WHAMM	0	.	GRCh38	chr15	82809943	82809943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccaagcctgaggccgccGtctccccgtccagctgggcc	5	5	12	19	3	1	1	0	1	1	0	3	1	2	1	8	2	3	1	8	2	1	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.217G>A	p.Val73Ile	p.V73I	ENST00000286760	1/10	51	35	16	72	71	1	strelka-varscan-mutect	WHAMM,missense_variant,p.Val73Ile,ENST00000286760,NM_001080435.2;FSD2,upstream_gene_variant,,ENST00000334574,NM_001007122.3;FSD2,upstream_gene_variant,,ENST00000541889,NM_001281806.1,NM_001281805.1;FSD2,upstream_gene_variant,,ENST00000561368,;	A	ENST00000286760	Transcript	missense_variant	316/5101	217/2430	73/809	V/I	Gtc/Atc		1		1	WHAMM	HGNC	HGNC:30493	protein_coding	YES	CCDS45333.1	ENSP00000286760	Q8TF30		UPI00001C1F94	NM_001080435.2	tolerated(0.21)		1/10		hmmpanther:PTHR23330,hmmpanther:PTHR23330:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	82809943	82809943	G	A	1	0	0	0	0	1	0	0	0	17918	1145	40	1		1	WHAMM	15	82809943	Missense_Mutation	SNP	G	C3N-01414_TP	3516514	82809943	19181246	419	25125											
KIF7	0	.	GRCh38	chr15	89632888	89632888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcctccttcttggccaGgatggcctcccgcttgtgga	4	10	13	14	1	1	0	0	0	1	0	3	2	3	2	5	5	0	1	5	5	0	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.2827C>A	p.Leu943Met	p.L943M	ENST00000394412	14/19	362	263	99	591	591	0	strelka-varscan-mutect	KIF7,missense_variant,p.Leu943Met,ENST00000394412,NM_198525.2;TICRR,downstream_gene_variant,,ENST00000268138,NM_152259.3;TICRR,downstream_gene_variant,,ENST00000560985,NM_001308025.1;KIF7,upstream_gene_variant,,ENST00000558928,;TICRR,downstream_gene_variant,,ENST00000561095,;	T	ENST00000394412	Transcript	missense_variant	2904/4551	2827/4032	943/1343	L/M	Ctg/Atg		1		-1	KIF7	HGNC	HGNC:30497	protein_coding	YES	CCDS32325.2	ENSP00000377934	Q2M1P5		UPI00015F81C7	NM_198525.2	deleterious(0)		14/19		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF445																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	77	89632888	89632888	G	T	1	0	0	0	0	1	0	0	0	8174	991	35	2		2	KIF7	15	89632888	Missense_Mutation	SNP	G	C3N-01414_TP	6822945	89632888	12358301	420	25126											
AXIN1	0	.	GRCh38	chr16	297735	297735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcacctgtgggcgaggcCatcactggcgttgggggcag	5	7	17	12	3	2	0	2	0	0	0	2	1	2	0	2	5	0	3	2	5	0	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1771G>T	p.Gly591Cys	p.G591C	ENST00000262320	6/11	47	38	9	57	57	0	strelka-varscan-mutect	AXIN1,missense_variant,p.Gly591Cys,ENST00000262320,NM_003502.3;AXIN1,missense_variant,p.Gly591Cys,ENST00000354866,NM_181050.2;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,downstream_gene_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	A	ENST00000262320	Transcript	missense_variant	2143/3643	1771/2589	591/862	G/C	Ggc/Tgc		1		-1	AXIN1	HGNC	HGNC:903	protein_coding	YES	CCDS10405.1	ENSP00000262320	O15169	A0A0S2Z4R0	UPI000012669E	NM_003502.3	deleterious(0.03)		6/11																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	297735	297735	C	A	1	0	0	0	0	1	0	0	0	1393	594	21	2		2	AXIN1	16	297735	Missense_Mutation	SNP	C	C3N-01414_TP		297735	90040610	421	25127											
TPSAB1	0	.	GRCh38	chr16	1240974	1240974	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggcgctgcccgtcctGgcgagccgcgcctacgcggc	2	6	15	18	7	0	0	0	0	0	0	1	1	1	0	4	3	4	2	4	3	1	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.36G>C	p.=	p.L12L	ENST00000338844	2/6	47	39	8	93	93	0	strelka-varscan-mutect	TPSAB1,synonymous_variant,p.=,ENST00000461509,;TPSAB1,synonymous_variant,p.=,ENST00000338844,NM_003294.3;TPSAB1,upstream_gene_variant,,ENST00000561736,;TPSAB1,non_coding_transcript_exon_variant,,ENST00000562432,;	C	ENST00000338844	Transcript	synonymous_variant	69/1175	36/828	12/275	L	ctG/ctC		1		1	TPSAB1	HGNC	HGNC:12019	protein_coding	YES	CCDS10431.1	ENSP00000343577	Q15661		UPI0000137302	NM_003294.3			2/6		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Superfamily_domains:SSF50494																	LOW	1	SNV	1			1										PASS		rs1387570835	.												C	2	2	77	1240974	1240974	G	C	1	0	0	0	0	0	0	0	1	16904	1335	47	4		4	TPSAB1	16	1240974	Silent	SNP	G	C3N-01414_TP	943239	1240974	89097371	422	25128											
TPSD1	0	.	GRCh38	chr16	1256609	1256609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgagcctgagagtccgcgGcccatactggatgcacttct	7	9	13	12	2	1	2	0	2	1	1	2	4	2	3	3	3	3	1	3	3	1	2	rs2401931		C3N-01414_TP	C3N-01414_NB	G	G																c.176G>A	p.Gly59Asp	p.G59D	ENST00000211076	2/5	117	110	7	153	152	1	varscan-mutect	TPSD1,missense_variant,p.Gly59Asp,ENST00000211076,NM_012217.2;TPSD1,missense_variant,p.Gly52Asp,ENST00000397534,;RP11-616M22.5,upstream_gene_variant,,ENST00000566997,;PRSS29P,downstream_gene_variant,,ENST00000568091,;PRSS29P,downstream_gene_variant,,ENST00000440800,;	A	ENST00000211076	Transcript	missense_variant	324/1499	176/729	59/242	G/D	gGc/gAc	rs2401931	1		1	TPSD1	HGNC	HGNC:14118	protein_coding	YES	CCDS10432.1	ENSP00000211076	Q9BZJ3		UPI000007066B	NM_012217.2	tolerated(0.32)		2/5		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF261,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs2401931	.												A	3	1	77	1256609	1256609	G	A	1	0	0	0	0	1	0	0	0	16906	1203	42	3		3	TPSD1	16	1256609	Missense_Mutation	SNP	G	C3N-01414_TP	15635	1256609	89081736	423	25129											
TSC2	0	.	GRCh38	chr16	2079639	2079639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcagcaggtgtcccgtGgggcccgggatcgggtccgt	3	7	19	12	4	0	0	0	0	0	0	3	1	2	1	3	6	1	2	3	6	0	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.3367G>A	p.Gly1123Arg	p.G1123R	ENST00000219476	29/42	184	132	52	204	204	0	strelka-varscan-mutect	TSC2,missense_variant,p.Gly1123Arg,ENST00000219476,NM_000548.3;TSC2,missense_variant,p.Gly1123Arg,ENST00000350773,NM_001114382.1;TSC2,missense_variant,p.Gly1090Arg,ENST00000568454,NM_001318832.1;TSC2,missense_variant,p.Gly1079Arg,ENST00000401874,NM_001077183.1;TSC2,missense_variant,p.Gly1043Arg,ENST00000439673,NM_001318827.1;TSC2,missense_variant,p.Gly1031Arg,ENST00000382538,NM_001318829.1;TSC2,upstream_gene_variant,,ENST00000569110,;TSC2,non_coding_transcript_exon_variant,,ENST00000568366,;TSC2,3_prime_UTR_variant,,ENST00000439117,NM_001318831.1;TSC2,non_coding_transcript_exon_variant,,ENST00000497886,;TSC2,upstream_gene_variant,,ENST00000569930,;TSC2,downstream_gene_variant,,ENST00000463808,;TSC2,downstream_gene_variant,,ENST00000471143,;TSC2,downstream_gene_variant,,ENST00000483020,;TSC2,downstream_gene_variant,,ENST00000561695,;	A	ENST00000219476	Transcript	missense_variant	3997/6156	3367/5424	1123/1807	G/R	Ggg/Agg		1		1	TSC2	HGNC	HGNC:12363	protein_coding	YES	CCDS10458.1	ENSP00000219476	P49815		UPI000013C781	NM_000548.3	tolerated(0.23)		29/42																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	77	2079639	2079639	G	A	1	0	0	0	0	1	0	0	0	17112	1348	47	3		3	TSC2	16	2079639	Missense_Mutation	SNP	G	C3N-01414_TP	823030	2079639	88258706	424	25130											
TSC2	0	.	GRCh38	chr16	2084629	2084629	+	Frame_Shift_Del	DEL	A	A	-																															atctccgactcggccccatcAcgcaggggcaagagagtaga																								novel		C3N-01414_TP	C3N-01414_NB	A	A																c.4407delA	p.Arg1470AlafsTer6	p.R1470Afs*6	ENST00000219476	34/42	120	89	31	224	224	0	sindel-varindel	TSC2,frameshift_variant,p.Arg1470AlafsTer6,ENST00000219476,NM_000548.3;TSC2,frameshift_variant,p.Arg1447AlafsTer6,ENST00000350773,NM_001114382.1;TSC2,frameshift_variant,p.Arg1414AlafsTer6,ENST00000568454,NM_001318832.1;TSC2,frameshift_variant,p.Arg1403AlafsTer6,ENST00000401874,NM_001077183.1;TSC2,frameshift_variant,p.Arg1367AlafsTer6,ENST00000439673,NM_001318827.1;TSC2,frameshift_variant,p.Arg1355AlafsTer6,ENST00000382538,NM_001318829.1;TSC2,frameshift_variant,p.Arg198AlafsTer6,ENST00000569110,;PKD1,downstream_gene_variant,,ENST00000262304,NM_001009944.2;PKD1,downstream_gene_variant,,ENST00000423118,NM_000296.3;TSC2,downstream_gene_variant,,ENST00000568366,;TSC2,3_prime_UTR_variant,,ENST00000439117,NM_001318831.1;TSC2,non_coding_transcript_exon_variant,,ENST00000497886,;TSC2,non_coding_transcript_exon_variant,,ENST00000569930,;PKD1,downstream_gene_variant,,ENST00000472577,;	-	ENST00000219476	Transcript	frameshift_variant	5037/6156	4407/5424	1469/1807	S/X	tcA/tc		1		1	TSC2	HGNC	HGNC:12363	protein_coding	YES	CCDS10458.1	ENSP00000219476	P49815		UPI000013C781	NM_000548.3			34/42		Superfamily_domains:0043732																	HIGH		deletion	5			1										PASS		.	.												-	7	5	77	2084629	2084629	A	-	1	0	1	0	1	0	0	0	0	17112	146	6	0		0	TSC2	16	2084629	Frame_Shift_Del	DEL	A	C3N-01414_TP	4990	2084629	88253716	425	25131											
RBFOX1	0	.	GRCh38	chr16	7676804	7676804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcataccgctacgcccagCctacccctgccactgccgct	6	7	7	21	3	0	0	0	0	0	0	0	0	0	0	7	0	7	3	7	0	3	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1090C>G	p.Pro364Ala	p.P364A	ENST00000422070	14/16	144	117	27	212	212	0	strelka-varscan-mutect	RBFOX1,missense_variant,p.Pro321Ala,ENST00000550418,NM_018723.3;RBFOX1,missense_variant,p.Pro326Ala,ENST00000340209,;RBFOX1,missense_variant,p.Pro299Ala,ENST00000620507,;RBFOX1,missense_variant,p.Pro364Ala,ENST00000547372,;RBFOX1,missense_variant,p.Pro342Ala,ENST00000355637,NM_145893.2;RBFOX1,missense_variant,p.Pro342Ala,ENST00000311745,NM_145891.2;RBFOX1,missense_variant,p.Pro294Ala,ENST00000553186,NM_001142333.1;RBFOX1,missense_variant,p.Pro364Ala,ENST00000422070,NM_001308117.1;RBFOX1,missense_variant,p.Pro278Ala,ENST00000535565,;RBFOX1,missense_variant,p.Pro342Ala,ENST00000436368,NM_145892.2;RBFOX1,missense_variant,p.Pro321Ala,ENST00000547338,NM_001142334.1;RBFOX1,missense_variant,p.Pro338Ala,ENST00000552089,;RBFOX1,missense_variant,p.Ser38Arg,ENST00000567470,;RBFOX1,non_coding_transcript_exon_variant,,ENST00000570188,;	G	ENST00000422070	Transcript	missense_variant	1286/1684	1090/1278	364/425	P/A	Cct/Gct		1		1	RBFOX1	HGNC	HGNC:18222	protein_coding	YES	CCDS76818.1	ENSP00000391269		B7Z1U7	UPI0001914C99	NM_001308117.1	tolerated_low_confidence(0.12)		14/16		Low_complexity_(Seg):seg,hmmpanther:PTHR15597:SF26,hmmpanther:PTHR15597,PIRSF_domain:PIRSF037932,Pfam_domain:PF12414																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	77	7676804	7676804	C	G	1	0	0	0	0	1	0	0	0	13271	739	26	4		4	RBFOX1	16	7676804	Missense_Mutation	SNP	C	C3N-01414_TP	5592175	7676804	82661541	426	25132											
NOMO1	0	.	GRCh38	chr16	14872321	14872321	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgatggatgtcactgtGactatcaagtaagatgagcg	15	10	11	5	1	2	4	2	3	0	1	2	5	2	5	0	1	1	1	0	1	5	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.2046G>T	p.=	p.V682V	ENST00000287667	18/31	49	36	13	75	75	0	varscan-mutect	NOMO1,synonymous_variant,p.=,ENST00000287667,NM_014287.3;NOMO1,synonymous_variant,p.=,ENST00000620755,;NOMO1,synonymous_variant,p.=,ENST00000610363,;	T	ENST00000287667	Transcript	synonymous_variant	2217/4355	2046/3669	682/1222	V	gtG/gtT		1		1	NOMO1	HGNC	HGNC:30060	protein_coding	YES	CCDS10556.1	ENSP00000287667	Q15155		UPI000013D37E	NM_014287.3			18/31		hmmpanther:PTHR23303																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	77	14872321	14872321	G	T	1	0	0	0	0	0	0	0	1	10575	1277	45	2		2	NOMO1	16	14872321	Silent	SNP	G	C3N-01414_TP	7195517	14872321	75466024	427	25133											
ACSM2A	0	.	GRCh38	chr16	20465543	20465543	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcgactcccaagcccagcCctgtggtgggtgaatgggaa	10	6	14	11	1	0	1	0	1	0	0	1	3	1	2	3	3	3	0	3	3	4	0	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.204C>A	p.=	p.A68A	ENST00000573854	3/14	147	117	30	208	207	1	strelka-varscan-mutect	ACSM2A,synonymous_variant,p.=,ENST00000573854,NM_001308172.1,NM_001010845.2;ACSM2A,synonymous_variant,p.=,ENST00000396104,;ACSM2A,synonymous_variant,p.=,ENST00000575690,;ACSM2A,synonymous_variant,p.=,ENST00000219054,;ACSM2A,synonymous_variant,p.=,ENST00000571894,;ACSM2A,synonymous_variant,p.=,ENST00000576361,;ACSM2A,5_prime_UTR_variant,,ENST00000417235,NM_001308169.1;ACSM2A,5_prime_UTR_variant,,ENST00000574251,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000575558,;ACSM2A,synonymous_variant,p.=,ENST00000574692,;ACSM2A,non_coding_transcript_exon_variant,,ENST00000570698,;	A	ENST00000573854	Transcript	synonymous_variant	318/2837	204/1734	68/577	A	gcC/gcA		1		1	ACSM2A	HGNC	HGNC:32017	protein_coding	YES	CCDS32401.1	ENSP00000459451	Q08AH3		UPI0000251E27	NM_001308172.1,NM_001010845.2			3/14		hmmpanther:PTHR24095:SF188,hmmpanther:PTHR24095,Gene3D:3.40.50.980,Superfamily_domains:SSF56801																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	20465543	20465543	C	A	1	0	0	0	0	0	0	0	1	225	610	22	2		2	ACSM2A	16	20465543	Silent	SNP	C	C3N-01414_TP	5593222	20465543	69872802	428	25134											
ACSM2B	0	.	GRCh38	chr16	20546417	20546417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacatcataacaggaagcagCcgttcccatgtatcctggtt	11	11	8	11	1	1	0	1	0	0	0	3	1	3	1	3	2	4	4	3	2	4	5	rs768303608		C3N-01414_TP	C3N-01414_NB	C	C																c.1156G>C	p.Ala386Pro	p.A386P	ENST00000329697	9/14	42	36	6	86	86	0	varscan-mutect	ACSM2B,missense_variant,p.Ala386Pro,ENST00000329697,NM_001105069.1;ACSM2B,missense_variant,p.Ala386Pro,ENST00000414188,;ACSM2B,missense_variant,p.Ala386Pro,ENST00000565232,;ACSM2B,missense_variant,p.Ala386Pro,ENST00000567001,NM_182617.3;ACSM2B,missense_variant,p.Ala307Pro,ENST00000565322,;ACSM2B,missense_variant,p.Ala155Pro,ENST00000567288,;ACSM2B,downstream_gene_variant,,ENST00000569163,;ACSM2B,upstream_gene_variant,,ENST00000568098,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569131,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000566998,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569364,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000563943,;ACSM2B,downstream_gene_variant,,ENST00000569327,;	G	ENST00000329697	Transcript	missense_variant	1325/2935	1156/1734	386/577	A/P	Gct/Cct	rs768303608,COSM968090	1		-1	ACSM2B	HGNC	HGNC:30931	protein_coding	YES	CCDS10586.1	ENSP00000327453	Q68CK6		UPI00001AFAA7	NM_001105069.1	tolerated(0.52)		9/14		Gene3D:2.30.38.10,Pfam_domain:PF00501,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF188,Superfamily_domains:SSF56801											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs768303608	.												G	3	3	77	20546417	20546417	C	G	1	0	0	0	0	1	0	0	0	226	739	26	4		4	ACSM2B	16	20546417	Missense_Mutation	SNP	C	C3N-01414_TP	80874	20546417	69791928	429	25135											
NPIPB4	0	.	GRCh38	chr16	21837308	21837308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagattatcatccgctgagGgtggagctgagggtagagct	9	10	16	6	1	1	4	1	3	0	2	2	6	2	5	1	3	2	4	1	3	2	2	rs777977460		C3N-01414_TP	C3N-01414_NB	G	G																c.1079C>A	p.Pro360His	p.P360H	ENST00000415645	7/9	116	99	17	168	168	0	strelka-varscan-mutect	NPIPB4,missense_variant,p.Pro360His,ENST00000415645,NM_130464.2;NPIPB4,missense_variant,p.Pro144His,ENST00000537951,;NPIPB4,downstream_gene_variant,,ENST00000614197,;NPIPB4,downstream_gene_variant,,ENST00000165086,;NPIPB4,downstream_gene_variant,,ENST00000541329,;NPIPB4,downstream_gene_variant,,ENST00000542133,;NPIPB4,downstream_gene_variant,,ENST00000545367,;NPIPB4,downstream_gene_variant,,ENST00000543660,;RP11-645C24.6,downstream_gene_variant,,ENST00000622730,;	T	ENST00000415645	Transcript	missense_variant	1119/3606	1079/3417	360/1138	P/H	cCc/cAc	rs777977460	1		-1	NPIPB4	HGNC	HGNC:41985	protein_coding	YES		ENSP00000404439	C9JG80		UPI00020651A0	NM_130464.2			7/9		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs777977460	.												T	3	4	77	21837308	21837308	G	T	1	0	0	0	0	1	0	0	0	10638	1232	43	2		2	NPIPB4	16	21837308	Missense_Mutation	SNP	G	C3N-01414_TP	1290891	21837308	68501037	430	25136											
PLK1	0	.	GRCh38	chr16	23688676	23688676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctgtctcagaggaggctGaggatcctgcctgcatcccc	6	11	11	13	0	2	2	1	1	2	1	5	4	4	4	4	3	2	2	4	3	0	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1201G>A	p.Glu401Lys	p.E401K	ENST00000300093	7/10	241	195	46	404	403	1	strelka-varscan-mutect	PLK1,missense_variant,p.Glu401Lys,ENST00000300093,NM_005030.4;ERN2,downstream_gene_variant,,ENST00000634482,NM_033266.3;ERN2,downstream_gene_variant,,ENST00000256797,;ERN2,downstream_gene_variant,,ENST00000457008,NM_001308220.1;PLK1,downstream_gene_variant,,ENST00000567897,;PLK1,downstream_gene_variant,,ENST00000568568,;CTD-2196E14.5,upstream_gene_variant,,ENST00000566143,;PLK1,non_coding_transcript_exon_variant,,ENST00000562272,;PLK1,non_coding_transcript_exon_variant,,ENST00000564794,;PLK1,non_coding_transcript_exon_variant,,ENST00000564947,;ERN2,downstream_gene_variant,,ENST00000562458,;PLK1,downstream_gene_variant,,ENST00000562407,;	A	ENST00000300093	Transcript	missense_variant	1312/2227	1201/1812	401/603	E/K	Gag/Aag		1		1	PLK1	HGNC	HGNC:9077	protein_coding	YES	CCDS10616.1	ENSP00000300093	P53350		UPI0000131BF9	NM_005030.4	tolerated(0.17)		7/10		hmmpanther:PTHR24345,Gene3D:3.30.1120.30,Superfamily_domains:SSF82615																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	23688676	23688676	G	A	1	0	0	0	0	1	0	0	0	12190	1291	45	3		3	PLK1	16	23688676	Missense_Mutation	SNP	G	C3N-01414_TP	1851368	23688676	66649669	431	25137											
ZKSCAN2	0	.	GRCh38	chr16	25247141	25247141	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactctttgagaattgccAggaaagtctttgtttcctca	10	14	9	8	0	3	2	1	1	2	2	4	5	4	3	2	1	1	1	2	1	2	4	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1055T>A	p.Leu352Gln	p.L352Q	ENST00000328086	5/7	254	196	58	391	391	0	strelka-varscan-mutect	ZKSCAN2,missense_variant,p.Leu352Gln,ENST00000328086,NM_001012981.4;ZKSCAN2,3_prime_UTR_variant,,ENST00000569150,;ZKSCAN2,non_coding_transcript_exon_variant,,ENST00000565590,;	T	ENST00000328086	Transcript	missense_variant	1859/7523	1055/2904	352/967	L/Q	cTg/cAg		1		-1	ZKSCAN2	HGNC	HGNC:25677	protein_coding	YES	CCDS32410.1	ENSP00000331626	Q63HK3		UPI0000229E7F	NM_001012981.4	deleterious(0)		5/7		hmmpanther:PTHR10032:SF206,hmmpanther:PTHR10032,Pfam_domain:PF13837																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	25247141	25247141	A	T	1	0	0	0	0	1	0	0	0	18265	188	7	4		4	ZKSCAN2	16	25247141	Missense_Mutation	SNP	A	C3N-01414_TP	1558465	25247141	65091204	432	25138											
SEZ6L2	0	.	GRCh38	chr16	29896847	29896847	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcaccgtagtggtaacAgttgtcgtggtgatgatggt	7	13	15	6	2	1	2	1	2	0	0	2	2	1	2	1	4	1	3	1	4	2	3			C3N-01414_TP	C3N-01414_NB	A	A																c.486T>A	p.=	p.T162T	ENST00000617533	3/18	145	115	30	186	186	0	strelka-varscan-mutect	SEZ6L2,synonymous_variant,p.=,ENST00000308713,NM_201575.3,NM_001114099.2;SEZ6L2,synonymous_variant,p.=,ENST00000617533,NM_001243332.1;SEZ6L2,synonymous_variant,p.=,ENST00000537485,NM_001243333.1;SEZ6L2,synonymous_variant,p.=,ENST00000350527,NM_012410.3;SEZ6L2,synonymous_variant,p.=,ENST00000346932,NM_001114100.2;ASPHD1,upstream_gene_variant,,ENST00000308748,NM_181718.3;ASPHD1,upstream_gene_variant,,ENST00000483405,;ASPHD1,upstream_gene_variant,,ENST00000563177,;SEZ6L2,downstream_gene_variant,,ENST00000568380,;SEZ6L2,non_coding_transcript_exon_variant,,ENST00000562159,;ASPHD1,upstream_gene_variant,,ENST00000566693,;ASPHD1,upstream_gene_variant,,ENST00000414952,;	T	ENST00000617533	Transcript	synonymous_variant	731/3555	486/2772	162/923	T	acT/acA	COSM1588361,COSM969686	1		-1	SEZ6L2	HGNC	HGNC:30844	protein_coding	YES	CCDS73865.1	ENSP00000481917		A0A087WYL5	UPI00001FFE46	NM_001243332.1			3/18		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF92,Low_complexity_(Seg):seg											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	77	29896847	29896847	A	T	1	0	0	0	0	0	0	0	1	14423	175	7	4		4	SEZ6L2	16	29896847	Silent	SNP	A	C3N-01414_TP	4649706	29896847	60441498	433	25139											
PRR14	0	.	GRCh38	chr16	30653365	30653365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcccctatttttatccagGgcttcattgatgagaccccc	8	13	6	14	0	1	2	1	2	0	1	3	3	3	2	5	1	0	1	5	1	2	6	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.505G>A	p.Gly169Ser	p.G169S	ENST00000542965	5/11	154	110	44	230	230	0	strelka-varscan-mutect	PRR14,missense_variant,p.Gly169Ser,ENST00000542965,;PRR14,missense_variant,p.Gly169Ser,ENST00000300835,NM_024031.2;PRR14,missense_variant,p.Gly169Ser,ENST00000568754,;PRR14,downstream_gene_variant,,ENST00000569864,;PRR14,upstream_gene_variant,,ENST00000571654,;PRR14,splice_region_variant,,ENST00000287463,;PRR14,splice_region_variant,,ENST00000564946,;PRR14,upstream_gene_variant,,ENST00000567322,;PRR14,upstream_gene_variant,,ENST00000567989,;PRR14,downstream_gene_variant,,ENST00000563211,;PRR14,upstream_gene_variant,,ENST00000565977,;PRR14,downstream_gene_variant,,ENST00000565410,;PRR14,downstream_gene_variant,,ENST00000563399,;	A	ENST00000542965	Transcript	missense_variant,splice_region_variant	961/2316	505/1758	169/585	G/S	Ggc/Agc		1		1	PRR14	HGNC	HGNC:28458	protein_coding	YES	CCDS10687.1	ENSP00000441641	Q9BWN1	A0A024QZB5	UPI000006F1D0		tolerated_low_confidence(0.13)		5/11		hmmpanther:PTHR14522																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	30653365	30653365	G	A	1	0	0	0	0	1	0	0	0	12721	1246	43	3		3	PRR14	16	30653365	Missense_Mutation	SNP	G	C3N-01414_TP	756518	30653365	59684980	434	25140											
ABCC11	0	.	GRCh38	chr16	48178641	48178641	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagccgtgaactgtgcctCtgtctccaagccaatccggg	8	9	10	14	2	2	1	0	1	2	0	4	1	3	1	5	1	5	0	5	1	4	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.3304G>C	p.Glu1102Gln	p.E1102Q	ENST00000394747	23/29	214	184	30	380	380	0	strelka-varscan-mutect	ABCC11,missense_variant,p.Glu1102Gln,ENST00000394747,NM_033151.3;ABCC11,missense_variant,p.Glu1102Gln,ENST00000356608,;ABCC11,missense_variant,p.Glu1102Gln,ENST00000394748,NM_032583.3;ABCC11,missense_variant,p.Glu1102Gln,ENST00000353782,NM_145186.2;ABCC11,non_coding_transcript_exon_variant,,ENST00000565329,;	G	ENST00000394747	Transcript	missense_variant	3654/4862	3304/4149	1102/1382	E/Q	Gag/Cag		1		-1	ABCC11	HGNC	HGNC:14639	protein_coding	YES	CCDS10732.1	ENSP00000378230	Q96J66	A0A024R6Q6	UPI0000052711	NM_033151.3	tolerated(0.3)		23/29		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF168,Gene3D:2hydA01,Superfamily_domains:SSF90123																	MODERATE	1	SNV	1			1										PASS		rs1312037062	.												G	3	3	77	48178641	48178641	C	G	1	0	0	0	0	1	0	0	0	55	922	32	4		4	ABCC11	16	48178641	Missense_Mutation	SNP	C	C3N-01414_TP	17525276	48178641	42159704	435	25141											
SALL1	0	.	GRCh38	chr16	51141108	51141108	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctggtgaggacgatgAtgagaccgctgggttgctga	11	8	16	6	2	0	4	0	4	0	1	0	7	0	5	1	3	2	4	1	3	2	1	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1114T>A	p.Ser372Thr	p.S372T	ENST00000251020	2/3	304	244	60	439	438	1	strelka-varscan-mutect	SALL1,missense_variant,p.Ser275Thr,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Ser372Thr,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Ser275Thr,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	T	ENST00000251020	Transcript	missense_variant	1148/5146	1114/3975	372/1324	S/T	Tca/Aca		1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	tolerated(0.43)		2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	51141108	51141108	A	T	1	0	0	0	0	1	0	0	0	14069	333	12	4		4	SALL1	16	51141108	Missense_Mutation	SNP	A	C3N-01414_TP	2962467	51141108	39197237	436	25142											
IRX5	0	.	GRCh38	chr16	54932757	54932758	+	In_Frame_Ins	INS	-	-	CCT																															ttcgccaacgcgcgccggcgINScctcaagaaagagaataaaa																								novel		C3N-01414_TP	C3N-01414_NB	-	-																c.511_513dupCTC	p.Leu171dup	p.L171dup	ENST00000394636	2/3	308	280	28	516	515	1	sindel-varindel-pindel	IRX5,inframe_insertion,p.Leu171dup,ENST00000394636,NM_005853.5;IRX5,inframe_insertion,p.Leu171dup,ENST00000320990,NM_001252197.1;IRX5,intron_variant,,ENST00000620085,;IRX5,intron_variant,,ENST00000560154,;CRNDE,upstream_gene_variant,,ENST00000560208,;CRNDE,upstream_gene_variant,,ENST00000559598,;CRNDE,upstream_gene_variant,,ENST00000502066,;CRNDE,upstream_gene_variant,,ENST00000501177,;CRNDE,upstream_gene_variant,,ENST00000558952,;CRNDE,upstream_gene_variant,,ENST00000559432,;CRNDE,upstream_gene_variant,,ENST00000557792,;CRNDE,upstream_gene_variant,,ENST00000560912,;CTD-3032H12.2,upstream_gene_variant,,ENST00000560487,;IRX5,non_coding_transcript_exon_variant,,ENST00000558597,;	CCT	ENST00000394636	Transcript	inframe_insertion	846-847/2401	509-510/1452	170/483	R/RL	cgc/cgCCTc		1		1	IRX5	HGNC	HGNC:14361	protein_coding	YES	CCDS10751.1	ENSP00000378132	P78411		UPI00001FF1CD	NM_005853.5			2/3		Gene3D:1.10.10.60,Pfam_domain:PF05920,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF17,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	insertion	3	4		1										PASS		.	.												CCT	7	5	77	54932757	54932757	-	CCT	1	0	1	1	0	0	0	0	0	7755	1087	38	0		0	IRX5	16	54932757	In_Frame_Ins	INS	-	C3N-01414_TP	3791649	54932757	35405588	437	25143											
LPCAT2	0	.	GRCh38	chr16	55529842	55529842	+	Missense_Mutation	SNP	A	A	T																															atttgttttaaaggactgttAcgggctgtgcaaccagtttt																								novel		C3N-01414_TP	C3N-01414_NB	A	A																c.537A>T	p.Leu179Phe	p.L179F	ENST00000262134	4/14	148	111	37	206	206	0	strelka-varscan-mutect	LPCAT2,missense_variant,p.Leu179Phe,ENST00000262134,NM_017839.4;LPCAT2,missense_variant,p.Leu37Phe,ENST00000564084,;LPCAT2,upstream_gene_variant,,ENST00000566915,;LPCAT2,downstream_gene_variant,,ENST00000566911,;	T	ENST00000262134	Transcript	missense_variant	721/5391	537/1635	179/544	L/F	ttA/ttT		1		1	LPCAT2	HGNC	HGNC:26032	protein_coding	YES	CCDS10753.1	ENSP00000262134	Q7L5N7		UPI00001BD900	NM_017839.4	deleterious(0.03)		4/14		hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF21,Pfam_domain:PF01553,SMART_domains:SM00563,Superfamily_domains:0039877																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	55529842	55529842	A	T	1	0	0	0	0	1	0	0	0	8814	388	14	4		4	LPCAT2	16	55529842	Missense_Mutation	SNP	A	C3N-01414_TP	597085	55529842	34808503	438	25144	527	2									
LPCAT2	0	.	GRCh38	chr16	55529844	55529844	+	Missense_Mutation	SNP	G	G	C																															ttgttttaaaggactgttacGggctgtgcaaccagttttgg																								novel		C3N-01414_TP	C3N-01414_NB	G	G																c.539G>C	p.Arg180Pro	p.R180P	ENST00000262134	4/14	157	118	39	218	218	0	strelka-varscan-mutect	LPCAT2,missense_variant,p.Arg180Pro,ENST00000262134,NM_017839.4;LPCAT2,missense_variant,p.Arg38Pro,ENST00000564084,;LPCAT2,upstream_gene_variant,,ENST00000566915,;LPCAT2,downstream_gene_variant,,ENST00000566911,;	C	ENST00000262134	Transcript	missense_variant	723/5391	539/1635	180/544	R/P	cGg/cCg		1		1	LPCAT2	HGNC	HGNC:26032	protein_coding	YES	CCDS10753.1	ENSP00000262134	Q7L5N7		UPI00001BD900	NM_017839.4	deleterious(0.04)		4/14		hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF21,Pfam_domain:PF01553,SMART_domains:SM00563,Superfamily_domains:0039877																	MODERATE	1	SNV	1			1										PASS		rs1263512562	.												C	3	2	77	55529844	55529844	G	C	1	0	0	0	0	1	0	0	0	8814	1116	39	4		4	LPCAT2	16	55529844	Missense_Mutation	SNP	G	C3N-01414_TP	2	55529844	34808501	439	25145	527	2									
AC027682.1	0	.	GRCh38	chr16	67546390	67546390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagggacagtctgcccatcGacggctggaggagtccctgg	8	6	16	11	2	1	1	0	0	1	1	3	5	2	4	2	5	1	1	2	5	0	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.3629G>A	p.Arg1210Gln	p.R1210Q	ENST00000428437	22/22	167	141	26	261	261	0	strelka-varscan-mutect	FAM65A,missense_variant,p.Arg1215Gln,ENST00000540839,;FAM65A,missense_variant,p.Arg1210Gln,ENST00000428437,NM_001193524.1;FAM65A,missense_variant,p.Arg1200Gln,ENST00000379312,NM_001193522.1;FAM65A,missense_variant,p.Arg1196Gln,ENST00000042381,NM_024519.3;AC027682.1,missense_variant,p.Arg1216Gln,ENST00000422602,NM_001193523.1;FAM65A,downstream_gene_variant,,ENST00000566559,;FAM65A,downstream_gene_variant,,ENST00000569253,;FAM65A,downstream_gene_variant,,ENST00000568959,;FAM65A,downstream_gene_variant,,ENST00000569179,;CTD-2012K14.6,downstream_gene_variant,,ENST00000605277,;CTD-2012K14.6,downstream_gene_variant,,ENST00000565929,;CTD-2012K14.3,upstream_gene_variant,,ENST00000563083,;CTD-2012K14.4,upstream_gene_variant,,ENST00000564717,;CTD-2012K14.5,downstream_gene_variant,,ENST00000623147,;FAM65A,non_coding_transcript_exon_variant,,ENST00000569733,;FAM65A,downstream_gene_variant,,ENST00000566815,;FAM65A,downstream_gene_variant,,ENST00000569474,;FAM65A,downstream_gene_variant,,ENST00000564616,;FAM65A,downstream_gene_variant,,ENST00000561534,;FAM65A,downstream_gene_variant,,ENST00000566730,;FAM65A,downstream_gene_variant,,ENST00000565190,;FAM65A,downstream_gene_variant,,ENST00000565679,;	A	ENST00000428437	Transcript	missense_variant	3754/4152	3629/3702	1210/1233	R/Q	cGa/cAa		1		1	FAM65A	HGNC	HGNC:25836	protein_coding	YES	CCDS54027.1	ENSP00000389456	Q6ZS17		UPI00017A7136	NM_001193524.1	deleterious(0)		22/22		hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF1,Gene3D:1.25.10.10,Pfam_domain:PF13646																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	77	67546390	67546390	G	A	1	0	0	0	0	1	0	0	0	129	1058	37	1		1	AC027682.1	16	67546390	Missense_Mutation	SNP	G	C3N-01414_TP	12016546	67546390	22791955	440	25146											
ZFP90	0	.	GRCh38	chr16	68563663	68563663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtatgtggaaaggccttcagGcatagctcatctcttggtca	9	12	11	9	0	4	0	3	0	1	0	5	1	4	1	1	4	1	3	1	4	3	4	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.876G>T	p.Arg292Ser	p.R292S	ENST00000570495	5/5	231	182	49	339	338	1	strelka-varscan-mutect	ZFP90,missense_variant,p.Arg292Ser,ENST00000570495,NM_001305203.1;ZFP90,missense_variant,p.Arg292Ser,ENST00000398253,NM_133458.2;ZFP90,missense_variant,p.Arg292Ser,ENST00000563169,;ZFP90,intron_variant,,ENST00000611381,NM_001305204.1;ZFP90,intron_variant,,ENST00000573113,;ZFP90,downstream_gene_variant,,ENST00000564323,;ZFP90,downstream_gene_variant,,ENST00000573685,;ZFP90,downstream_gene_variant,,ENST00000562156,;ZFP90,3_prime_UTR_variant,,ENST00000564558,;ZFP90,non_coding_transcript_exon_variant,,ENST00000571720,;ZFP90,downstream_gene_variant,,ENST00000571809,;ZFP90,downstream_gene_variant,,ENST00000576805,;ZFP90,downstream_gene_variant,,ENST00000569323,;	T	ENST00000570495	Transcript	missense_variant	1168/4636	876/1911	292/636	R/S	agG/agT		1		1	ZFP90	HGNC	HGNC:23329	protein_coding	YES	CCDS42183.1	ENSP00000460547	Q8TF47		UPI000004C096	NM_001305203.1	tolerated(0.86)		5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF143,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	68563663	68563663	G	T	1	0	0	0	0	1	0	0	0	18231	1194	42	2		2	ZFP90	16	68563663	Missense_Mutation	SNP	G	C3N-01414_TP	1017273	68563663	21774682	441	25147											
COG8	0	.	GRCh38	chr16	69331033	69331033	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gataaaggcgaggggctcctGaatggcgccgatgttcacat	10	8	14	9	3	1	1	1	1	0	0	2	4	2	1	2	4	0	2	2	4	3	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1645C>T	p.Gln549Ter	p.Q549*	ENST00000306875	5/6	349	273	76	517	516	1	strelka-varscan-mutect	COG8,stop_gained,p.Gln549Ter,ENST00000306875,NM_032382.4;COG8,intron_variant,,ENST00000562595,;COG8,intron_variant,,ENST00000562949,;VPS4A,downstream_gene_variant,,ENST00000254950,NM_013245.2;COG8,downstream_gene_variant,,ENST00000562081,;PDF,upstream_gene_variant,,ENST00000288022,NM_022341.1;COG8,downstream_gene_variant,,ENST00000567493,;RP11-343C2.9,downstream_gene_variant,,ENST00000563634,;COG8,upstream_gene_variant,,ENST00000564419,;RP11-343C2.7,downstream_gene_variant,,ENST00000564737,;RP11-343C2.7,downstream_gene_variant,,ENST00000570293,;	A	ENST00000306875	Transcript	stop_gained	1760/4247	1645/1839	549/612	Q/*	Cag/Tag		1		-1	COG8	HGNC	HGNC:18623	protein_coding	YES	CCDS10876.1	ENSP00000305459	Q96MW5	A0A024R6Z6	UPI000013EBA1	NM_032382.4			5/6		hmmpanther:PTHR21311:SF0,hmmpanther:PTHR21311,PIRSF_domain:PIRSF015415																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	77	69331033	69331033	G	A	1	0	0	0	0	0	1	0	0	3452	1299	45	3		3	COG8	16	69331033	Nonsense_Mutation	SNP	G	C3N-01414_TP	767370	69331033	21007312	442	25148											
ATXN1L	0	.	GRCh38	chr16	71851348	71851348	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcagagcaaagtgagCatcgaagtgccccccgagca	13	3	13	12	2	0	2	0	1	0	1	1	5	0	2	3	0	6	5	3	0	2	0	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1608C>T	p.=	p.S536S	ENST00000427980	3/3	287	236	51	525	525	0	strelka-varscan-mutect	ATXN1L,synonymous_variant,p.=,ENST00000427980,NM_001137675.3;IST1,intron_variant,,ENST00000568581,;ATXN1L,intron_variant,,ENST00000569119,;ATXN1L,downstream_gene_variant,,ENST00000565676,;	T	ENST00000427980	Transcript	synonymous_variant	1901/7886	1608/2070	536/689	S	agC/agT		1		1	ATXN1L	HGNC	HGNC:33279	protein_coding	YES	CCDS45523.1	ENSP00000415822	P0C7T5		UPI0000198982	NM_001137675.3			3/3		Superfamily_domains:0041756,Gene3D:2.170.16.10,Pfam_domain:PF08517,PROSITE_profiles:PS51148,hmmpanther:PTHR13392,hmmpanther:PTHR13392:SF6,SMART_domains:SM00536																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	77	71851348	71851348	C	T	1	0	0	0	0	0	0	0	1	1364	709	25	3		3	ATXN1L	16	71851348	Silent	SNP	C	C3N-01414_TP	2520315	71851348	18486997	443	25149											
PMFBP1	0	.	GRCh38	chr16	72140418	72140418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaggcacttaccaaagcGttactgcaggccagcttatt	13	9	9	10	1	0	1	0	0	0	1	0	1	0	1	2	2	5	4	2	2	6	4	rs139925979		C3N-01414_TP	C3N-01414_NB	G	G																c.801C>G	p.Asn267Lys	p.N267K	ENST00000237353	6/21	106	74	32	168	168	0	strelka-varscan-mutect	PMFBP1,missense_variant,p.Asn267Lys,ENST00000537465,;PMFBP1,missense_variant,p.Asn267Lys,ENST00000237353,NM_031293.2;PMFBP1,missense_variant,p.Asn122Lys,ENST00000355636,NM_001160213.1;PMFBP1,missense_variant,p.Asn70Lys,ENST00000537392,;PMFBP1,3_prime_UTR_variant,,ENST00000379073,;	C	ENST00000237353	Transcript	missense_variant	1063/3527	801/3024	267/1007	N/K	aaC/aaG	rs139925979	1		-1	PMFBP1	HGNC	HGNC:17728	protein_coding	YES	CCDS32483.1	ENSP00000237353	Q8TBY8		UPI0000141554	NM_031293.2	tolerated(0.2)		6/21		hmmpanther:PTHR18881,hmmpanther:PTHR18881:SF2																	MODERATE	1	SNV	1			1										PASS		rs139925979	.												C	3	2	77	72140418	72140418	G	C	1	0	0	0	0	1	0	0	0	12241	1136	40	4		4	PMFBP1	16	72140418	Missense_Mutation	SNP	G	C3N-01414_TP	289070	72140418	18197927	444	25150											
SCARF1	0	.	GRCh38	chr17	1634935	1634935	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggaccgcttcctctggTctgactgccataggccctgt	4	10	10	17	2	2	1	0	1	2	0	3	2	3	2	6	3	1	1	6	3	1	2	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.2316A>C	p.Arg772Ser	p.R772S	ENST00000263071	11/11	117	93	24	165	165	0	strelka-varscan-mutect	SCARF1,missense_variant,p.Arg772Ser,ENST00000263071,NM_003693.3;SCARF1,missense_variant,p.Arg686Ser,ENST00000348987,;SCARF1,3_prime_UTR_variant,,ENST00000571272,NM_145350.2;SCARF1,3_prime_UTR_variant,,ENST00000434376,;SCARF1,3_prime_UTR_variant,,ENST00000573852,;SCARF1,non_coding_transcript_exon_variant,,ENST00000576012,;SCARF1,downstream_gene_variant,,ENST00000570902,;	G	ENST00000263071	Transcript	missense_variant	2366/3443	2316/2493	772/830	R/S	agA/agC		1		-1	SCARF1	HGNC	HGNC:16820	protein_coding	YES	CCDS11007.1	ENSP00000263071	Q14162		UPI00001AE868	NM_003693.3	tolerated(0.52)		11/11		hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	77	1634935	1634935	T	G	1	0	0	0	0	1	0	0	0	14149	1664	58	5		5	SCARF1	17	1634935	Missense_Mutation	SNP	T	C3N-01414_TP		1634935	81622506	445	25151											
RPA1	0	.	GRCh38	chr17	1883876	1883876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctaaagagcggcggagtcGgagggagtaacaccaactgg	13	5	15	8	3	1	1	0	0	1	1	2	4	1	4	1	5	3	1	1	5	4	2	rs771309470		C3N-01414_TP	C3N-01414_NB	G	G																c.1306G>C	p.Gly436Arg	p.G436R	ENST00000254719	13/17	204	161	43	370	370	0	strelka-varscan-mutect	RPA1,missense_variant,p.Gly436Arg,ENST00000254719,NM_002945.3;RPA1,missense_variant,p.Gly192Arg,ENST00000574049,;RPA1,downstream_gene_variant,,ENST00000573924,;	C	ENST00000254719	Transcript	missense_variant	1416/4340	1306/1851	436/616	G/R	Gga/Cga	rs771309470	1		1	RPA1	HGNC	HGNC:10289	protein_coding	YES	CCDS11014.1	ENSP00000254719	P27694		UPI000013379A	NM_002945.3	tolerated(0.06)		13/17		hmmpanther:PTHR23273,hmmpanther:PTHR23273:SF6,TIGRFAM_domain:TIGR00617																	MODERATE	1	SNV	1			1										PASS		rs771309470	.												C	3	2	77	1883876	1883876	G	C	1	0	0	0	0	1	0	0	0	13788	1117	39	4		4	RPA1	17	1883876	Missense_Mutation	SNP	G	C3N-01414_TP	248941	1883876	81373565	446	25152											
OR1A2	0	.	GRCh38	chr17	3197966	3197966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcttattgctgggtcttggGtgattggaaacaccagtgct	7	14	13	7	0	1	1	0	1	1	0	1	2	1	2	1	3	4	3	1	3	2	4			C3N-01414_TP	C3N-01414_NB	G	G																c.448G>T	p.Val150Leu	p.V150L	ENST00000381951	1/1	106	83	23	182	182	0	strelka-varscan-mutect	OR1A2,missense_variant,p.Val150Leu,ENST00000381951,NM_012352.2;	T	ENST00000381951	Transcript	missense_variant	448/930	448/930	150/309	V/L	Gtg/Ttg	COSM4065425	1		1	OR1A2	HGNC	HGNC:8180	protein_coding	YES	CCDS11021.1	ENSP00000371377	Q9Y585	A0A126GVH4	UPI0000041E56	NM_012352.2	tolerated(0.11)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF319,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	77	3197966	3197966	G	T	1	0	0	0	0	1	0	0	0	11028	1261	44	2		2	OR1A2	17	3197966	Missense_Mutation	SNP	G	C3N-01414_TP	1314090	3197966	80059475	447	25153											
PER1	0	.	GRCh38	chr17	8142270	8142270	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctgaaatgcctcaccTggagggcacctggtaggtca	8	8	13	12	0	3	1	2	1	1	0	3	2	3	2	4	5	1	2	4	5	2	1	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.3448A>T	p.Arg1150Trp	p.R1150W	ENST00000317276	21/23	45	32	13	58	58	0	strelka-varscan-mutect	PER1,missense_variant,p.Arg1150Trp,ENST00000317276,NM_002616.2;PER1,missense_variant,p.Arg1127Trp,ENST00000581082,;PER1,downstream_gene_variant,,ENST00000354903,;PER1,downstream_gene_variant,,ENST00000583559,;PER1,downstream_gene_variant,,ENST00000614952,;PER1,downstream_gene_variant,,ENST00000578089,;PER1,splice_region_variant,,ENST00000582719,;PER1,splice_region_variant,,ENST00000585284,;PER1,downstream_gene_variant,,ENST00000581395,;PER1,downstream_gene_variant,,ENST00000585095,;PER1,downstream_gene_variant,,ENST00000577424,;PER1,downstream_gene_variant,,ENST00000579203,;PER1,downstream_gene_variant,,ENST00000578950,;PER1,upstream_gene_variant,,ENST00000583677,;PER1,downstream_gene_variant,,ENST00000579098,;	A	ENST00000317276	Transcript	missense_variant,splice_region_variant	3686/4707	3448/3873	1150/1290	R/W	Agg/Tgg		1		-1	PER1	HGNC	HGNC:8845	protein_coding	YES	CCDS11131.1	ENSP00000314420	O15534		UPI000013FFF5	NM_002616.2	deleterious(0)		21/23		hmmpanther:PTHR11269:SF8,hmmpanther:PTHR11269,Pfam_domain:PF12114																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	8142270	8142270	T	A	1	0	0	0	0	1	0	0	0	11817	1594	55	4		4	PER1	17	8142270	Missense_Mutation	SNP	T	C3N-01414_TP	4944304	8142270	75115171	448	25154											
GLP2R	0	.	GRCh38	chr17	9860036	9860036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcctctacctccacaCgctgctggagcccacagtgc	8	7	10	16	1	1	1	0	1	1	0	2	2	2	2	4	2	4	2	4	2	2	1	rs145296340		C3N-01414_TP	C3N-01414_NB	C	C																c.860C>T	p.Thr287Met	p.T287M	ENST00000262441	7/13	131	105	26	210	210	0	strelka-varscan-mutect	GLP2R,missense_variant,p.Thr287Met,ENST00000262441,NM_004246.2;GLP2R,missense_variant,p.Thr107Met,ENST00000574745,;GLP2R,missense_variant,p.Thr107Met,ENST00000304773,;GLP2R,3_prime_UTR_variant,,ENST00000458005,;	T	ENST00000262441	Transcript	missense_variant	1373/4572	860/1662	287/553	T/M	aCg/aTg	rs145296340,COSM1208321	1		1	GLP2R	HGNC	HGNC:4325	protein_coding	YES	CCDS11150.1	ENSP00000262441	O95838		UPI0000050469	NM_004246.2	deleterious(0)		7/13		PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF269,Pfam_domain:PF00002,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs145296340	.												T	3	4	77	9860036	9860036	C	T	1	0	0	0	0	1	0	0	0	6332	536	19	1		1	GLP2R	17	9860036	Missense_Mutation	SNP	C	C3N-01414_TP	1717766	9860036	73397405	449	25155											
MYH8	0	.	GRCh38	chr17	10398632	10398632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggcgtgtgccagggcGttcttggcctgcagaagtag	6	9	17	9	2	1	1	0	0	1	1	1	1	1	1	2	3	3	4	2	3	2	3	rs199830005		C3N-01414_TP	C3N-01414_NB	G	G																c.3990C>T	p.=	p.N1330N	ENST00000403437	30/40	481	437	44	639	638	1	strelka-varscan-mutect	MYH8,synonymous_variant,p.=,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000403437	Transcript	synonymous_variant	4085/6041	3990/5814	1330/1937	N	aaC/aaT	rs199830005,COSM1479205	1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2			30/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,Superfamily_domains:SSF90257											0,1						LOW		SNV	5		0,1	1										PASS		rs199830005	.												A	2	1	77	10398632	10398632	G	A	1	0	0	0	0	0	0	0	1	10041	1136	40	1		1	MYH8	17	10398632	Silent	SNP	G	C3N-01414_TP	538596	10398632	72858809	450	25156											
MYH8	0	.	GRCh38	chr17	10401123	10401123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccaatttgaggtcaccCtccagtttccgctttgctct	5	14	9	13	1	2	1	1	1	1	0	4	1	4	1	4	2	1	3	4	2	1	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.3177G>T	p.Glu1059Asp	p.E1059D	ENST00000403437	25/40	324	243	81	468	468	0	strelka-varscan-mutect	MYH8,missense_variant,p.Glu1059Asp,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000403437	Transcript	missense_variant	3272/6041	3177/5814	1059/1937	E/D	gaG/gaT		1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2	deleterious(0.02)		25/40		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF368,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	77	10401123	10401123	C	A	1	0	0	0	0	1	0	0	0	10041	680	24	2		2	MYH8	17	10401123	Missense_Mutation	SNP	C	C3N-01414_TP	2491	10401123	72856318	451	25157											
GID4	0	.	GRCh38	chr17	18054158	18054158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttacaaccttcttcgaagGagaaataatcagcaaaaaac	18	8	5	10	1	2	1	1	0	1	1	3	3	2	1	2	1	4	1	2	1	8	4	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.530G>T	p.Gly177Val	p.G177V	ENST00000268719	3/6	144	119	25	160	159	1	strelka-varscan-mutect	GID4,missense_variant,p.Gly177Val,ENST00000268719,NM_024052.4;GID4,missense_variant,p.Gly177Val,ENST00000376345,;GID4,missense_variant,p.Gly8Val,ENST00000459843,;GID4,missense_variant,p.Gly4Val,ENST00000481836,;	T	ENST00000268719	Transcript	missense_variant	703/4237	530/903	177/300	G/V	gGa/gTa		1		1	GID4	HGNC	HGNC:28453	protein_coding	YES	CCDS11190.1	ENSP00000268719	Q8IVV7		UPI00000745B4	NM_024052.4	deleterious(0)		3/6		Pfam_domain:PF09783,hmmpanther:PTHR15898																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	18054158	18054158	G	T	1	0	0	0	0	1	0	0	0	6254	1174	41	2		2	GID4	17	18054158	Missense_Mutation	SNP	G	C3N-01414_TP	7653035	18054158	65203283	452	25158											
KIAA0100	0	.	GRCh38	chr17	28635499	28635499	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggtacagtctcaggaaaCacagtggctcttagtaggtc	11	10	12	8	0	2	0	1	0	2	0	4	2	2	1	0	4	2	3	0	4	4	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.2088G>A	p.=	p.V696V	ENST00000528896	16/39	405	363	42	389	389	0	strelka-varscan-mutect	KIAA0100,synonymous_variant,p.=,ENST00000528896,NM_014680.3;KIAA0100,synonymous_variant,p.=,ENST00000544884,;KIAA0100,synonymous_variant,p.=,ENST00000389003,;KIAA0100,upstream_gene_variant,,ENST00000577261,;RP11-192H23.7,non_coding_transcript_exon_variant,,ENST00000577814,;RP11-192H23.7,downstream_gene_variant,,ENST00000583787,;KIAA0100,downstream_gene_variant,,ENST00000577417,;KIAA0100,downstream_gene_variant,,ENST00000580882,;KIAA0100,downstream_gene_variant,,ENST00000583403,;KIAA0100,downstream_gene_variant,,ENST00000577580,;KIAA0100,upstream_gene_variant,,ENST00000582417,;KIAA0100,upstream_gene_variant,,ENST00000581064,;KIAA0100,downstream_gene_variant,,ENST00000581267,;KIAA0100,downstream_gene_variant,,ENST00000579253,;	T	ENST00000528896	Transcript	synonymous_variant	2163/7407	2088/6708	696/2235	V	gtG/gtA		1		-1	KIAA0100	HGNC	HGNC:28960	protein_coding	YES	CCDS32595.1	ENSP00000436773	Q14667		UPI00004B4130	NM_014680.3			16/39		hmmpanther:PTHR15678																	LOW	1	SNV	1			1										PASS		rs1217756749	.												T	2	4	77	28635499	28635499	C	T	1	0	0	0	0	0	0	0	1	8074	465	17	3		3	KIAA0100	17	28635499	Silent	SNP	C	C3N-01414_TP	10581341	28635499	54621942	453	25159											
TLCD1	0	.	GRCh38	chr17	28724613	28724613	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattatgatcatcacgtccAgcatgagcaggatacccagc	13	8	9	11	1	2	3	2	2	0	1	3	4	3	4	2	1	4	2	2	1	2	2	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.641T>G	p.Leu214Arg	p.L214R	ENST00000292090	4/4	504	415	89	480	480	0	strelka-varscan-mutect	TLCD1,missense_variant,p.Leu214Arg,ENST00000292090,NM_138463.3;TLCD1,missense_variant,p.Leu167Arg,ENST00000394933,NM_001160407.1;TLCD1,missense_variant,p.Leu143Arg,ENST00000580518,;TLCD1,missense_variant,p.Trp52Gly,ENST00000581236,;NEK8,upstream_gene_variant,,ENST00000268766,NM_178170.2;RPL23A,downstream_gene_variant,,ENST00000422514,NM_000984.5;RPL23A,downstream_gene_variant,,ENST00000394938,;NEK8,upstream_gene_variant,,ENST00000579060,;NEK8,upstream_gene_variant,,ENST00000579671,;RPL23A,downstream_gene_variant,,ENST00000472628,;RPL23A,downstream_gene_variant,,ENST00000496182,;RPL23A,downstream_gene_variant,,ENST00000578181,;RPL23A,downstream_gene_variant,,ENST00000355731,;RPL23A,downstream_gene_variant,,ENST00000394935,;SNORD4B,downstream_gene_variant,,ENST00000459083,;SNORD4A,downstream_gene_variant,,ENST00000459174,;SNORD42B,downstream_gene_variant,,ENST00000458893,;SNORD42A,downstream_gene_variant,,ENST00000459584,;AC010761.8,upstream_gene_variant,,ENST00000582718,;AC010761.14,upstream_gene_variant,,ENST00000587898,;NEK8,upstream_gene_variant,,ENST00000593261,;NEK8,upstream_gene_variant,,ENST00000543014,;NEK8,upstream_gene_variant,,ENST00000584342,;RPL23A,downstream_gene_variant,,ENST00000582736,;NEK8,upstream_gene_variant,,ENST00000581000,;RPL23A,downstream_gene_variant,,ENST00000580755,;	C	ENST00000292090	Transcript	missense_variant	752/1017	641/744	214/247	L/R	cTg/cGg		1		-1	TLCD1	HGNC	HGNC:25177	protein_coding	YES	CCDS11242.1	ENSP00000292090	Q96CP7		UPI000006DF3D	NM_138463.3	deleterious(0)		4/4		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50922,hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF5,Pfam_domain:PF03798,SMART_domains:SM00724																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	28724613	28724613	A	C	1	0	0	0	0	1	0	0	0	16380	188	7	5		5	TLCD1	17	28724613	Missense_Mutation	SNP	A	C3N-01414_TP	89114	28724613	54532828	454	25160											
TADA2A	0	.	GRCh38	chr17	37465567	37465567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtttttgagccttgagcaGtatttgtgtgtgtatattta	7	20	11	3	0	0	2	0	2	0	0	0	2	0	2	1	1	2	4	1	1	4	9	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.849G>T	p.Gln283His	p.Q283H	ENST00000620367	11/11	220	179	41	331	330	1	strelka-varscan-mutect	TADA2A,missense_variant,p.Gln283His,ENST00000620367,NM_001291918.1,NM_133439.3;TADA2A,intron_variant,,ENST00000615182,NM_001166105.2;TADA2A,intron_variant,,ENST00000612272,NM_001488.4;TADA2A,downstream_gene_variant,,ENST00000615328,;TADA2A,intron_variant,,ENST00000620086,;TADA2A,intron_variant,,ENST00000619335,;TADA2A,intron_variant,,ENST00000620628,;TADA2A,intron_variant,,ENST00000619777,;TADA2A,intron_variant,,ENST00000616284,;TADA2A,downstream_gene_variant,,ENST00000614122,;	T	ENST00000620367	Transcript	missense_variant	957/1043	849/918	283/305	Q/H	caG/caT		1		1	TADA2A	HGNC	HGNC:11531	protein_coding		CCDS45656.1	ENSP00000480446		A0A087WWR4	UPI0000161F3F	NM_001291918.1,NM_133439.3	tolerated_low_confidence(0.14)		11/11																			MODERATE		SNV	5			1										PASS		.	.												T	3	4	77	37465567	37465567	G	T	1	0	0	0	0	1	0	0	0	15906	1020	36	2		2	TADA2A	17	37465567	Missense_Mutation	SNP	G	C3N-01414_TP	8740954	37465567	45791874	455	25161											
ACLY	0	.	GRCh38	chr17	41869589	41869589	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatgtctgggttgtttatcTagaaatgaacccaacggtac	11	12	10	8	1	2	2	0	1	2	1	2	2	2	2	1	2	3	4	1	2	6	5	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.2938-2A>G		p.X980_splice	ENST00000352035		123	94	29	123	123	0	strelka-varscan-mutect	ACLY,splice_acceptor_variant,,ENST00000352035,NM_001303274.1,NM_001096.2;ACLY,splice_acceptor_variant,,ENST00000353196,NM_001303275.1,NM_198830.1;ACLY,splice_acceptor_variant,,ENST00000590151,;ACLY,splice_acceptor_variant,,ENST00000393896,;ACLY,splice_acceptor_variant,,ENST00000537919,;KLHL11,upstream_gene_variant,,ENST00000319121,NM_018143.2;RP11-229E13.4,downstream_gene_variant,,ENST00000619176,;ACLY,splice_acceptor_variant,,ENST00000588779,;	C	ENST00000352035	Transcript	splice_acceptor_variant	-/4339	2938/3306	980/1101				1		-1	ACLY	HGNC	HGNC:115	protein_coding	YES	CCDS11412.1	ENSP00000253792	P53396	A0A024R1T9	UPI000013CDF3	NM_001303274.1,NM_001096.2				25/28																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	77	41869589	41869589	T	C	1	0	0	0	0	0	0	1	0	185	1536	53	5		5	ACLY	17	41869589	Splice_Site	SNP	T	C3N-01414_TP	4404022	41869589	41387852	456	25162											
CACNA1G	0	.	GRCh38	chr17	50607974	50607974	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaagaggaggcccggCggcgggaggagaagcgccta	11	1	21	8	4	0	2	0	0	0	2	0	7	0	6	2	8	1	0	2	8	3	1	rs751708640		C3N-01414_TP	C3N-01414_NB	C	C																c.4660C>A	p.=	p.R1554R	ENST00000359106	25/38	227	150	77	306	306	0	strelka-varscan-mutect	CACNA1G,synonymous_variant,p.=,ENST00000354983,NM_198396.2;CACNA1G,synonymous_variant,p.=,ENST00000352832,NM_198387.2;CACNA1G,synonymous_variant,p.=,ENST00000359106,NM_018896.4;CACNA1G,synonymous_variant,p.=,ENST00000360761,NM_198382.2;CACNA1G,synonymous_variant,p.=,ENST00000442258,NM_198388.2;CACNA1G,synonymous_variant,p.=,ENST00000429973,NM_198386.2;CACNA1G,synonymous_variant,p.=,ENST00000507336,NM_198377.2;CACNA1G,synonymous_variant,p.=,ENST00000358244,NM_198376.2;CACNA1G,synonymous_variant,p.=,ENST00000507510,NM_198385.2;CACNA1G,synonymous_variant,p.=,ENST00000515765,NM_198380.2;CACNA1G,synonymous_variant,p.=,ENST00000515411,NM_001256324.1;CACNA1G,synonymous_variant,p.=,ENST00000502264,NM_198383.2;CACNA1G,synonymous_variant,p.=,ENST00000510115,NM_198379.2;CACNA1G,synonymous_variant,p.=,ENST00000514079,NM_001256325.1;CACNA1G,synonymous_variant,p.=,ENST00000513689,NM_001256326.1;CACNA1G,synonymous_variant,p.=,ENST00000515165,NM_198384.2;CACNA1G,synonymous_variant,p.=,ENST00000507609,NM_001256327.1;CACNA1G,synonymous_variant,p.=,ENST00000512389,NM_198378.2;CACNA1G,synonymous_variant,p.=,ENST00000514181,NM_001256328.1;CACNA1G,synonymous_variant,p.=,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,synonymous_variant,p.=,ENST00000513964,NM_001256360.1,NM_001256361.1,NM_001256330.1;CACNA1G,synonymous_variant,p.=,ENST00000510366,NM_001256331.1;CACNA1G,synonymous_variant,p.=,ENST00000514717,NM_001256332.1;CACNA1G,synonymous_variant,p.=,ENST00000505165,NM_001256333.1;CACNA1G,synonymous_variant,p.=,ENST00000507896,NM_001256334.1;CACNA1G,downstream_gene_variant,,ENST00000416767,;CACNA1G,downstream_gene_variant,,ENST00000506520,;CACNA1G,synonymous_variant,p.=,ENST00000506406,;CACNA1G,synonymous_variant,p.=,ENST00000504076,;CACNA1G,synonymous_variant,p.=,ENST00000511765,;CACNA1G,synonymous_variant,p.=,ENST00000503436,;CACNA1G,synonymous_variant,p.=,ENST00000511768,;CACNA1G,synonymous_variant,p.=,ENST00000503607,;	A	ENST00000359106	Transcript	synonymous_variant	4660/7648	4660/7134	1554/2377	R	Cgg/Agg	rs751708640	1		1	CACNA1G	HGNC	HGNC:1394	protein_coding	YES	CCDS45730.1	ENSP00000352011	O43497		UPI000012727A	NM_018896.4			25/38		Coiled-coils_(Ncoils):Coil,Prints_domain:PR01629,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs751708640	.												A	2	1	77	50607974	50607974	C	A	1	0	0	0	0	0	0	0	1	2232	759	27	1		1	CACNA1G	17	50607974	Silent	SNP	C	C3N-01414_TP	8738385	50607974	32649467	457	25163											
SPAG9	0	.	GRCh38	chr17	51046610	51046610	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcagaattaatgaccacCgccccgccaacaaagccaaa	17	4	6	14	2	0	2	0	1	0	1	0	2	0	2	6	0	3	1	6	0	6	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.51G>T	p.=	p.A17A	ENST00000510283	1/27	233	215	18	350	349	1	strelka-varscan-mutect	SPAG9,synonymous_variant,p.=,ENST00000510283,NM_001251971.1;SPAG9,synonymous_variant,p.=,ENST00000510855,;SPAG9,intron_variant,,ENST00000262013,NM_001130528.2;SPAG9,intron_variant,,ENST00000618113,;SPAG9,intron_variant,,ENST00000357122,NM_003971.5;SPAG9,intron_variant,,ENST00000505279,NM_001130527.2;RP11-481C4.1,intron_variant,,ENST00000509833,;SPAG9,non_coding_transcript_exon_variant,,ENST00000511987,;SPAG9,intron_variant,,ENST00000514613,;SPAG9,intron_variant,,ENST00000505173,;SPAG9,intron_variant,,ENST00000502329,;	A	ENST00000510283	Transcript	synonymous_variant	269/4949	51/3534	17/1177	A	gcG/gcT		1		-1	SPAG9	HGNC	HGNC:14524	protein_coding		CCDS58577.1	ENSP00000423165	O60271		UPI0001D3B84D	NM_001251971.1			1/27		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW		SNV	2			1										PASS		rs922410087	.												A	2	1	77	51046610	51046610	C	A	1	0	0	0	0	0	0	0	1	15316	639	23	1		1	SPAG9	17	51046610	Silent	SNP	C	C3N-01414_TP	438636	51046610	32210831	458	25164											
KIF2B	0	.	GRCh38	chr17	53824820	53824820	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagcagaaagagattgAagaggttgaaacattaccca	17	7	12	5	0	0	6	0	3	0	3	0	8	0	7	1	2	3	2	1	2	4	3	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1787A>T	p.Glu596Val	p.E596V	ENST00000268919	1/1	142	103	39	216	216	0	strelka-varscan-mutect	KIF2B,missense_variant,p.Glu596Val,ENST00000268919,NM_032559.4;	T	ENST00000268919	Transcript	missense_variant	1920/2313	1787/2022	596/673	E/V	gAa/gTa		1		1	KIF2B	HGNC	HGNC:29443	protein_coding	YES	CCDS32685.1	ENSP00000268919	Q8N4N8	A0A140VKG5	UPI000013D7E6	NM_032559.4	tolerated(0.07)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF524																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	77	53824820	53824820	A	T	1	0	0	0	0	1	0	0	0	8163	246	9	4		4	KIF2B	17	53824820	Missense_Mutation	SNP	A	C3N-01414_TP	2778210	53824820	29432621	459	25165											
USP32	0	.	GRCh38	chr17	60181485	60181485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaaagctacctcatggtCctgaggagtgaccaactctg	10	8	11	12	0	2	2	1	2	1	0	3	3	3	3	4	3	3	1	4	3	3	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.4387G>T	p.Asp1463Tyr	p.D1463Y	ENST00000300896	32/34	256	207	49	430	430	0	strelka-varscan-mutect	USP32,missense_variant,p.Asp1463Tyr,ENST00000300896,NM_032582.3;USP32,missense_variant,p.Asp1133Tyr,ENST00000592339,;USP32,missense_variant,p.Asp64Tyr,ENST00000593071,;USP32,downstream_gene_variant,,ENST00000586238,;	A	ENST00000300896	Transcript	missense_variant	4582/5171	4387/4815	1463/1604	D/Y	Gac/Tac		1		-1	USP32	HGNC	HGNC:19143	protein_coding	YES	CCDS32697.1	ENSP00000300896	Q8NFA0		UPI0000047AF8	NM_032582.3	deleterious_low_confidence(0.01)		32/34		PROSITE_profiles:PS50235,Pfam_domain:PF00443																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	60181485	60181485	C	A	1	0	0	0	0	1	0	0	0	17605	855	30	2		2	USP32	17	60181485	Missense_Mutation	SNP	C	C3N-01414_TP	6356665	60181485	23075956	460	25166											
CCDC47	0	.	GRCh38	chr17	63751876	63751876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagattaccttaacaacCaacagaacacaagcagtcat	20	6	4	11	0	1	2	1	0	0	2	1	2	1	2	2	0	6	1	2	0	7	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1435G>C	p.Gly479Arg	p.G479R	ENST00000582252	12/12	223	159	64	287	287	0	strelka-varscan-mutect	CCDC47,missense_variant,p.Gly479Arg,ENST00000582252,;CCDC47,intron_variant,,ENST00000225726,NM_020198.2;CCDC47,intron_variant,,ENST00000403162,;CCDC47,intron_variant,,ENST00000612558,;RP11-51F16.8,intron_variant,,ENST00000580553,;CCDC47,downstream_gene_variant,,ENST00000582331,;	G	ENST00000582252	Transcript	missense_variant	1613/1719	1435/1443	479/480	G/R	Ggt/Cgt		1		-1	CCDC47	HGNC	HGNC:24856	protein_coding			ENSP00000463577	Q96A33		UPI000007108D				12/12																			MODERATE		SNV	2			1										PASS		.	.												G	3	3	77	63751876	63751876	C	G	1	0	0	0	0	1	0	0	0	2524	594	21	4		4	CCDC47	17	63751876	Missense_Mutation	SNP	C	C3N-01414_TP	3570391	63751876	19505565	461	25167											
LRRC37A3	0	.	GRCh38	chr17	64894968	64894968	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggctgtagaatgtcCagtctctgtagtgggttctg	6	13	13	9	0	2	1	0	0	2	1	5	1	4	1	2	2	0	4	2	2	3	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.2290G>T	p.Gly764Ter	p.G764*	ENST00000584306	3/14	422	330	92	576	576	0	strelka-varscan-mutect	LRRC37A3,stop_gained,p.Gly764Ter,ENST00000584306,NM_199340.3;LRRC37A3,stop_gained,p.Gly764Ter,ENST00000319651,;LRRC37A3,stop_gained,p.Gly31Ter,ENST00000580464,;LRRC37A3,intron_variant,,ENST00000400877,;LRRC37A3,intron_variant,,ENST00000339474,NM_001303255.1;LRRC37A3,intron_variant,,ENST00000581368,;LRRC37A3,upstream_gene_variant,,ENST00000584788,;RP11-927P21.1,intron_variant,,ENST00000584959,;RP11-927P21.1,intron_variant,,ENST00000577938,;RP11-927P21.1,intron_variant,,ENST00000584131,;RP11-927P21.2,upstream_gene_variant,,ENST00000581622,;LRRC37A3,downstream_gene_variant,,ENST00000577487,;LRRC37A3,downstream_gene_variant,,ENST00000580439,;RP11-927P21.9,downstream_gene_variant,,ENST00000607347,;	A	ENST00000584306	Transcript	stop_gained	2821/5665	2290/4905	764/1634	G/*	Gga/Tga		1		-1	LRRC37A3	HGNC	HGNC:32427	protein_coding	YES	CCDS32708.1	ENSP00000464535	O60309		UPI00005B2F0A	NM_199340.3			3/14		hmmpanther:PTHR23045,hmmpanther:PTHR23045:SF7																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	77	64894968	64894968	C	A	1	0	0	0	0	0	1	0	0	8887	603	21	2		2	LRRC37A3	17	64894968	Nonsense_Mutation	SNP	C	C3N-01414_TP	1143092	64894968	18362473	462	25168											
SDK2	0	.	GRCh38	chr17	73365287	73365287	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcagggctcgtacaccAgcctgtagccctccaggatg	7	7	13	14	1	0	0	0	0	0	0	2	1	1	1	4	3	4	5	4	3	2	2	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.5276T>G	p.Leu1759Arg	p.L1759R	ENST00000392650	38/45	96	74	22	130	129	1	strelka-varscan-mutect	SDK2,missense_variant,p.Leu1759Arg,ENST00000392650,NM_001144952.1;SDK2,missense_variant,p.Leu916Arg,ENST00000424778,;SDK2,non_coding_transcript_exon_variant,,ENST00000410094,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;	C	ENST00000392650	Transcript	missense_variant	5277/10723	5276/6519	1759/2172	L/R	cTg/cGg		1		-1	SDK2	HGNC	HGNC:19308	protein_coding	YES	CCDS45769.1	ENSP00000376421	Q58EX2		UPI0000E5A088	NM_001144952.1	deleterious(0)		38/45		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF37,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	77	73365287	73365287	A	C	1	0	0	0	0	1	0	0	0	14244	188	7	5		5	SDK2	17	73365287	Missense_Mutation	SNP	A	C3N-01414_TP	8470319	73365287	9892154	463	25169											
CD300LD	0	.	GRCh38	chr17	74588850	74588850	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagcggcaatggagtaacCtggaaaacgcaaattcatgt	14	10	10	7	2	1	0	1	0	0	0	1	2	1	2	1	3	3	3	1	3	6	4	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.41-1G>T		p.X14_splice	ENST00000375352		53	41	12	89	89	0	strelka-varscan-mutect	CD300LD,splice_acceptor_variant,,ENST00000375352,NM_001115152.1;C17orf77,intron_variant,,ENST00000392620,;C17orf77,intron_variant,,ENST00000524389,;C17orf77,upstream_gene_variant,,ENST00000328023,;	A	ENST00000375352	Transcript	splice_acceptor_variant	-/1303	41/585	14/194				1		-1	CD300LD	HGNC	HGNC:16848	protein_coding	YES	CCDS42379.1	ENSP00000364501	Q6UXZ3		UPI00001D6916	NM_001115152.1				1/3																		HIGH	1	SNV	1			1										PASS		rs1432871816	.												A	5	1	77	74588850	74588850	C	A	1	0	0	0	0	0	0	1	0	2704	695	24	2		2	CD300LD	17	74588850	Splice_Site	SNP	C	C3N-01414_TP	1223563	74588850	8668591	464	25170											
SLC9A3R1	0	.	GRCh38	chr17	74763409	74763409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagcagcatggggacgtgGtgtccgccatcagggctggc	7	6	18	10	2	1	0	1	0	0	0	2	2	2	2	2	6	2	3	2	6	1	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.646G>A	p.Val216Met	p.V216M	ENST00000262613	3/6	123	115	8	179	179	0	strelka-mutect	SLC9A3R1,missense_variant,p.Val216Met,ENST00000262613,NM_004252.4;SLC9A3R1,missense_variant,p.Val60Met,ENST00000413388,;SLC9A3R1,intron_variant,,ENST00000583369,;SLC9A3R1,non_coding_transcript_exon_variant,,ENST00000578958,;SLC9A3R1,upstream_gene_variant,,ENST00000581356,;	A	ENST00000262613	Transcript	missense_variant	841/1969	646/1077	216/358	V/M	Gtg/Atg		1		1	SLC9A3R1	HGNC	HGNC:11075	protein_coding	YES	CCDS11705.1	ENSP00000262613	O14745		UPI0000072521	NM_004252.4	deleterious(0)		3/6		Gene3D:2.30.42.10,Pfam_domain:PF00595,PIRSF_domain:PIRSF037866,PROSITE_profiles:PS50106,hmmpanther:PTHR14191,hmmpanther:PTHR14191:SF7,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	74763409	74763409	G	A	1	0	0	0	0	1	0	0	0	14996	1261	44	3		3	SLC9A3R1	17	74763409	Missense_Mutation	SNP	G	C3N-01414_TP	174559	74763409	8494032	465	25171											
FN3KRP	0	.	GRCh38	chr17	82716770	82716770	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaacatggaggagctcctGaggcgcgagctgggctgcag	8	5	19	9	2	0	1	0	1	0	0	1	5	1	4	1	5	4	4	1	5	1	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.15G>T	p.=	p.L5L	ENST00000269373	1/6	119	95	24	147	147	0	strelka-varscan-mutect	FN3KRP,synonymous_variant,p.=,ENST00000269373,NM_024619.3;FN3KRP,upstream_gene_variant,,ENST00000573158,;FN3KRP,upstream_gene_variant,,ENST00000577128,;AC024361.1,downstream_gene_variant,,ENST00000629043,;RP11-388C12.1,upstream_gene_variant,,ENST00000574471,;FN3KRP,synonymous_variant,p.=,ENST00000574832,;FN3KRP,synonymous_variant,p.=,ENST00000574356,;FN3KRP,synonymous_variant,p.=,ENST00000574206,;FN3KRP,upstream_gene_variant,,ENST00000571482,;	T	ENST00000269373	Transcript	synonymous_variant	88/1849	15/930	5/309	L	ctG/ctT		1		1	FN3KRP	HGNC	HGNC:25700	protein_coding	YES	CCDS11817.1	ENSP00000269373	Q9HA64	A0A140VK84	UPI000006F7D6	NM_024619.3			1/6		PIRSF_domain:PIRSF006221,hmmpanther:PTHR12149,hmmpanther:PTHR12149:SF10,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		rs953911562	.												T	2	4	77	82716770	82716770	G	T	1	0	0	0	0	0	0	0	1	5820	1277	45	2		2	FN3KRP	17	82716770	Silent	SNP	G	C3N-01414_TP	7953361	82716770	540671	466	25172											
PIEZO2	0	.	GRCh38	chr18	10702021	10702021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgaaagaacagagccaGgagctggatgaggtcataga	15	6	14	6	1	1	5	1	2	0	3	2	8	1	7	1	3	3	1	1	3	3	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.6070C>A	p.Leu2024Met	p.L2024M	ENST00000503781	39/52	122	89	33	189	189	0	strelka-varscan-mutect	PIEZO2,missense_variant,p.Leu1975Met,ENST00000383408,;PIEZO2,missense_variant,p.Leu2024Met,ENST00000302079,;PIEZO2,missense_variant,p.Leu2049Met,ENST00000580640,;PIEZO2,missense_variant,p.Leu2024Met,ENST00000503781,NM_022068.3;PIEZO2,upstream_gene_variant,,ENST00000538948,;RP11-856M7.2,upstream_gene_variant,,ENST00000584167,;PIEZO2,3_prime_UTR_variant,,ENST00000582913,;	T	ENST00000503781	Transcript	missense_variant	6070/8259	6070/8259	2024/2752	L/M	Ctg/Atg		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3	tolerated(0.21)		39/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	10702021	10702021	G	T	1	0	0	0	0	1	0	0	0	11975	991	35	2		2	PIEZO2	18	10702021	Missense_Mutation	SNP	G	C3N-01414_TP		10702021	69671264	467	25173											
PIEZO2	0	.	GRCh38	chr18	10714843	10714843	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctccgggatgctcgtCaatggtgtccagtcccgact	7	9	12	13	3	1	0	1	0	0	0	5	2	4	1	3	2	3	3	3	2	1	0	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.5170G>T	p.Asp1724Tyr	p.D1724Y	ENST00000503781	36/52	231	188	43	413	410	3	strelka-varscan-mutect	PIEZO2,missense_variant,p.Asp1675Tyr,ENST00000383408,;PIEZO2,missense_variant,p.Asp1724Tyr,ENST00000302079,;PIEZO2,missense_variant,p.Asp1749Tyr,ENST00000580640,;PIEZO2,missense_variant,p.Asp1724Tyr,ENST00000503781,NM_022068.3;PIEZO2,3_prime_UTR_variant,,ENST00000582913,;	A	ENST00000503781	Transcript	missense_variant	5170/8259	5170/8259	1724/2752	D/Y	Gac/Tac		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3	deleterious(0.05)		36/52																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	10714843	10714843	C	A	1	0	0	0	0	1	0	0	0	11975	826	29	2		2	PIEZO2	18	10714843	Missense_Mutation	SNP	C	C3N-01414_TP	12822	10714843	69658442	468	25174											
CEP192	0	.	GRCh38	chr18	13056362	13056362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacacaaccctctctcagcGctgctccttttgctcagcgg	6	11	8	16	2	3	1	2	1	1	0	5	1	4	1	2	1	5	3	2	1	1	2	rs546992868		C3N-01414_TP	C3N-01414_NB	G	G																c.3772G>T	p.Ala1258Ser	p.A1258S	ENST00000506447	19/45	275	209	66	414	413	1	strelka-varscan-mutect	CEP192,missense_variant,p.Ala1258Ser,ENST00000506447,NM_032142.3;CEP192,missense_variant,p.Ala783Ser,ENST00000325971,;CEP192,missense_variant,p.Ala797Ser,ENST00000511820,;CEP192,missense_variant,p.Ala999Ser,ENST00000589596,;CEP192,upstream_gene_variant,,ENST00000430049,;CEP192,missense_variant,p.Ala858Ser,ENST00000510237,;CEP192,3_prime_UTR_variant,,ENST00000513432,;CEP192,upstream_gene_variant,,ENST00000589993,;CEP192,upstream_gene_variant,,ENST00000585938,;	T	ENST00000506447	Transcript	missense_variant	3852/7960	3772/7614	1258/2537	A/S	Gct/Tct	rs546992868,COSM708405,COSM708406	1		1	CEP192	HGNC	HGNC:25515	protein_coding	YES	CCDS32792.2	ENSP00000427550	Q8TEP8		UPI0001B09235	NM_032142.3	deleterious(0.04)		19/45		hmmpanther:PTHR16029,hmmpanther:PTHR16029:SF10											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs546992868	.												T	3	4	77	13056362	13056362	G	T	1	0	0	0	0	1	0	0	0	2967	1087	38	1		1	CEP192	18	13056362	Missense_Mutation	SNP	G	C3N-01414_TP	2341519	13056362	67316923	469	25175											
NPC1	0	.	GRCh38	chr18	23568910	23568910	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatcaacataatcttcagTagctgtaacattcaaaaact	17	11	5	8	0	4	0	3	0	1	0	4	1	4	1	0	1	4	3	0	1	6	5	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.376A>T	p.Thr126Ser	p.T126S	ENST00000269228	4/25	355	283	72	573	573	0	strelka-varscan-mutect	NPC1,missense_variant,p.Thr126Ser,ENST00000269228,NM_000271.4;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,;NPC1,downstream_gene_variant,,ENST00000587223,;	A	ENST00000269228	Transcript	missense_variant	931/5157	376/3837	126/1278	T/S	Act/Tct		1		-1	NPC1	HGNC	HGNC:7897	protein_coding	YES	CCDS11878.1	ENSP00000269228	O15118		UPI000013D80F	NM_000271.4	tolerated(0.06)		4/25		hmmpanther:PTHR10796:SF116,hmmpanther:PTHR10796,TIGRFAM_domain:TIGR00917,Pfam_domain:PF16414																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	23568910	23568910	T	A	1	0	0	0	0	1	0	0	0	10618	1638	57	4		4	NPC1	18	23568910	Missense_Mutation	SNP	T	C3N-01414_TP	10512548	23568910	56804375	470	25176											
TAF4B	0	.	GRCh38	chr18	26227258	26227258	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgacaatccagtttcctgctAatttgcagcttcctccaggt	8	13	7	13	1	0	0	0	0	0	0	4	1	4	0	4	1	3	4	4	1	2	4	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.325A>T	p.Asn109Tyr	p.N109Y	ENST00000578121	1/15	338	258	80	502	502	0	strelka-varscan-mutect	TAF4B,missense_variant,p.Asn109Tyr,ENST00000269142,NM_005640.2;TAF4B,missense_variant,p.Asn109Tyr,ENST00000578121,NM_001293725.1;TAF4B,missense_variant,p.Asn109Tyr,ENST00000418698,;	T	ENST00000578121	Transcript	missense_variant	773/3204	325/2604	109/867	N/Y	Aat/Tat		1		1	TAF4B	HGNC	HGNC:11538	protein_coding	YES	CCDS77170.1	ENSP00000462980		J3KTH2	UPI0000EE54F8	NM_001293725.1	deleterious(0)		1/15		hmmpanther:PTHR15138,hmmpanther:PTHR15138:SF17																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	77	26227258	26227258	A	T	1	0	0	0	0	1	0	0	0	15923	362	13	4		4	TAF4B	18	26227258	Missense_Mutation	SNP	A	C3N-01414_TP	2658348	26227258	54146027	471	25177											
DSG1	0	.	GRCh38	chr18	31333639	31333639	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctctgaccgagatggcggGgcagatggcatgtcagcgga	8	6	18	9	3	2	3	1	1	1	2	2	5	2	4	1	6	1	3	1	6	0	0			C3N-01414_TP	C3N-01414_NB	G	G																c.735G>T	p.=	p.G245G	ENST00000257192	7/15	418	321	97	601	599	2	strelka-varscan-mutect	DSG1,synonymous_variant,p.=,ENST00000257192,NM_001942.3;	T	ENST00000257192	Transcript	synonymous_variant	947/5045	735/3150	245/1049	G	ggG/ggT	COSM347897	1		1	DSG1	HGNC	HGNC:3048	protein_coding	YES	CCDS11896.1	ENSP00000257192	Q02413		UPI000013CF4C	NM_001942.3			7/15		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF9,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						LOW	1	SNV	1		1	1										PASS		rs1449413200	.												T	2	4	77	31333639	31333639	G	T	1	0	0	0	0	0	0	0	1	4597	1219	43	2		2	DSG1	18	31333639	Silent	SNP	G	C3N-01414_TP	5106381	31333639	49039646	472	25178											
ELP2	0	.	GRCh38	chr18	36142305	36142305	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaagtgctttctctctgtGgacatgaggattggattaga	11	13	12	5	0	2	3	0	1	2	2	3	6	2	6	0	3	1	1	0	3	2	3	rs772323657		C3N-01414_TP	C3N-01414_NB	G	G																c.808G>T	p.Gly270Ter	p.G270*	ENST00000442325	8/23	355	286	69	534	534	0	strelka-varscan-mutect	ELP2,stop_gained,p.Gly205Ter,ENST00000358232,NM_018255.2;ELP2,stop_gained,p.Gly270Ter,ENST00000442325,NM_001242875.1;ELP2,stop_gained,p.Gly244Ter,ENST00000350494,NM_001242876.1;ELP2,stop_gained,p.Gly179Ter,ENST00000351393,NM_001242877.1;ELP2,stop_gained,p.Gly179Ter,ENST00000542824,NM_001242878.1;ELP2,stop_gained,p.Gly56Ter,ENST00000543127,;ELP2,intron_variant,,ENST00000423854,NM_001242879.1;ELP2,non_coding_transcript_exon_variant,,ENST00000535093,;ELP2,non_coding_transcript_exon_variant,,ENST00000540730,;ELP2,non_coding_transcript_exon_variant,,ENST00000543439,;ELP2,downstream_gene_variant,,ENST00000540135,;ELP2,stop_gained,p.Gly205Ter,ENST00000539560,;ELP2,3_prime_UTR_variant,,ENST00000542430,;ELP2,3_prime_UTR_variant,,ENST00000545632,;ELP2,non_coding_transcript_exon_variant,,ENST00000536373,;ELP2,non_coding_transcript_exon_variant,,ENST00000540323,;ELP2,intron_variant,,ENST00000540799,;ELP2,downstream_gene_variant,,ENST00000535488,;ELP2,downstream_gene_variant,,ENST00000544267,;	T	ENST00000442325	Transcript	stop_gained	844/2722	808/2676	270/891	G/*	Gga/Tga	rs772323657	1		1	ELP2	HGNC	HGNC:18248	protein_coding	YES	CCDS56065.1	ENSP00000414851	Q6IA86		UPI0000E03DE9	NM_001242875.1			8/23		PROSITE_profiles:PS50082,hmmpanther:PTHR22847:SF471,hmmpanther:PTHR22847,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998																	HIGH	1	SNV	2			1										PASS		rs772323657	.												T	4	4	77	36142305	36142305	G	T	1	0	0	0	0	0	1	0	0	4914	1349	47	2		2	ELP2	18	36142305	Nonsense_Mutation	SNP	G	C3N-01414_TP	4808666	36142305	44230980	473	25179											
ST8SIA5	0	.	GRCh38	chr18	46686248	46686248	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctccgttgcccactacAgcacacttcttaaactggga	10	10	7	14	1	1	0	0	0	1	0	2	1	2	1	3	1	5	2	3	1	3	4	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.603T>A	p.=	p.A201A	ENST00000538168	6/8	284	212	72	407	407	0	strelka-varscan-mutect	ST8SIA5,synonymous_variant,p.=,ENST00000538168,NM_001307986.1;ST8SIA5,synonymous_variant,p.=,ENST00000315087,NM_013305.4;ST8SIA5,synonymous_variant,p.=,ENST00000536490,NM_001307987.1;ST8SIA5,non_coding_transcript_exon_variant,,ENST00000590497,;ST8SIA5,non_coding_transcript_exon_variant,,ENST00000589088,;ST8SIA5,non_coding_transcript_exon_variant,,ENST00000587428,;ST8SIA5,downstream_gene_variant,,ENST00000591375,;	T	ENST00000538168	Transcript	synonymous_variant	904/13761	603/1239	201/412	A	gcT/gcA		1		-1	ST8SIA5	HGNC	HGNC:17827	protein_coding	YES	CCDS77184.1	ENSP00000445492	O15466		UPI0000E03E3B	NM_001307986.1			6/8		hmmpanther:PTHR11987:SF4,hmmpanther:PTHR11987,PIRSF_domain:PIRSF005557,Pfam_domain:PF00777																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	77	46686248	46686248	A	T	1	0	0	0	0	0	0	0	1	15613	175	7	4		4	ST8SIA5	18	46686248	Silent	SNP	A	C3N-01414_TP	10543943	46686248	33687037	474	25180											
CTIF	0	.	GRCh38	chr18	48817240	48817240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacttcacggtgcgcgAggagctgcagcagcaggacg	10	4	17	10	4	1	0	1	0	0	0	1	5	1	3	0	4	5	4	0	4	1	1	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1397A>G	p.Glu466Gly	p.E466G	ENST00000382998	11/13	128	118	10	162	162	0	strelka-varscan-mutect	CTIF,missense_variant,p.Glu464Gly,ENST00000256413,NM_014772.2;CTIF,missense_variant,p.Glu466Gly,ENST00000382998,NM_001142397.1;CTIF,non_coding_transcript_exon_variant,,ENST00000587860,;	G	ENST00000382998	Transcript	missense_variant	1654/4407	1397/1803	466/600	E/G	gAg/gGg		1		1	CTIF	HGNC	HGNC:23925	protein_coding	YES	CCDS45864.1	ENSP00000372459	O43310		UPI0000074650	NM_001142397.1	deleterious(0.04)		11/13		hmmpanther:PTHR23254,Gene3D:1.25.40.180,Pfam_domain:PF02854,SMART_domains:SM00543,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	77	48817240	48817240	A	G	1	0	0	0	0	1	0	0	0	3819	304	11	5		5	CTIF	18	48817240	Missense_Mutation	SNP	A	C3N-01414_TP	2130992	48817240	31556045	475	25181											
MBD1	0	.	GRCh38	chr18	50275384	50275384	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacagttgggggagccaCagccaggggagtgcgtcgct	8	6	16	11	2	1	0	1	0	0	0	2	2	1	2	2	4	3	2	2	4	0	1			C3N-01414_TP	C3N-01414_NB	C	C																c.853G>C	p.Val285Leu	p.V285L	ENST00000457839	9/17	149	112	37	204	204	0	strelka-varscan-mutect	MBD1,missense_variant,p.Val285Leu,ENST00000457839,NM_001204137.1,NM_001204138.1;MBD1,missense_variant,p.Val285Leu,ENST00000585595,;MBD1,missense_variant,p.Val285Leu,ENST00000398495,NM_001204140.1;MBD1,missense_variant,p.Val161Leu,ENST00000592060,;MBD1,intron_variant,,ENST00000591416,;MBD1,intron_variant,,ENST00000269468,NM_015846.3;MBD1,intron_variant,,ENST00000347968,NM_015844.2;MBD1,intron_variant,,ENST00000269471,NM_015845.3;MBD1,intron_variant,,ENST00000339998,NM_001204142.1;MBD1,intron_variant,,ENST00000590208,NM_001204136.1;MBD1,intron_variant,,ENST00000353909,NM_015847.3;MBD1,intron_variant,,ENST00000585672,NM_001204141.1;MBD1,intron_variant,,ENST00000382948,NM_001204139.1;MBD1,intron_variant,,ENST00000587605,NM_001204143.1;MBD1,intron_variant,,ENST00000398493,;MBD1,intron_variant,,ENST00000588937,;MBD1,intron_variant,,ENST00000591535,NM_001204151.1;MBD1,intron_variant,,ENST00000398488,NM_002384.2;MBD1,intron_variant,,ENST00000589733,;MBD1,upstream_gene_variant,,ENST00000589541,;MBD1,intron_variant,,ENST00000586679,;MBD1,intron_variant,,ENST00000591661,;MBD1,downstream_gene_variant,,ENST00000586118,;MBD1,downstream_gene_variant,,ENST00000590215,;MBD1,downstream_gene_variant,,ENST00000589867,;MBD1,upstream_gene_variant,,ENST00000586884,;MBD1,downstream_gene_variant,,ENST00000589758,;	G	ENST00000457839	Transcript	missense_variant	982/2473	853/1893	285/630	V/L	Gtg/Ctg	COSM4411307	1		-1	MBD1	HGNC	HGNC:6916	protein_coding		CCDS56073.1	ENSP00000405268	Q9UIS9		UPI0000151F37	NM_001204137.1,NM_001204138.1	tolerated(0.19)		9/17		hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF8											1						MODERATE		SNV	2		1	1										PASS		.	.												G	3	3	77	50275384	50275384	C	G	1	0	0	0	0	1	0	0	0	9271	478	17	4		4	MBD1	18	50275384	Missense_Mutation	SNP	C	C3N-01414_TP	1458144	50275384	30097901	476	25182											
C18orf54	0	.	GRCh38	chr18	54362838	54362838	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtactgaagaattaccAaagtccatgaaaaaggatga	18	8	9	6	0	0	4	0	3	0	1	1	5	1	5	2	1	2	1	2	1	7	2	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1140A>G	p.=	p.P380P	ENST00000620105	5/9	253	189	64	450	450	0	strelka-varscan-mutect	C18orf54,synonymous_variant,p.=,ENST00000620105,NM_001288981.1,NM_001288980.1;C18orf54,synonymous_variant,p.=,ENST00000300091,NM_173529.5,NM_001288982.1;C18orf54,synonymous_variant,p.=,ENST00000382911,;C18orf54,5_prime_UTR_variant,,ENST00000578138,;STARD6,upstream_gene_variant,,ENST00000581310,;STARD6,upstream_gene_variant,,ENST00000577499,;STARD6,upstream_gene_variant,,ENST00000584040,;C18orf54,upstream_gene_variant,,ENST00000582188,;	G	ENST00000620105	Transcript	synonymous_variant	1442/5693	1140/1602	380/533	P	ccA/ccG		1		1	C18orf54	HGNC	HGNC:13796	protein_coding	YES	CCDS74223.1	ENSP00000477654	Q8IYD9		UPI000022A74A	NM_001288981.1,NM_001288980.1			5/9		hmmpanther:PTHR35079:SF1,hmmpanther:PTHR35079,Pfam_domain:PF15792																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	77	54362838	54362838	A	G	1	0	0	0	0	0	0	0	1	1900	117	5	5		5	C18orf54	18	54362838	Silent	SNP	A	C3N-01414_TP	4087454	54362838	26010447	477	25183											
TIMM21	0	.	GRCh38	chr18	74155346	74155346	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagaacttttttcttcAtccagtcctagcaagatata	13	15	4	9	0	3	2	2	0	1	2	5	2	5	2	2	0	2	1	2	0	6	8	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.405A>T	p.=	p.S135S	ENST00000169551	3/6	147	113	34	297	297	0	strelka-varscan-mutect	TIMM21,synonymous_variant,p.=,ENST00000169551,NM_014177.2;TIMM21,synonymous_variant,p.=,ENST00000580087,;TIMM21,synonymous_variant,p.=,ENST00000579071,;TIMM21,non_coding_transcript_exon_variant,,ENST00000577952,;TIMM21,non_coding_transcript_exon_variant,,ENST00000584925,;TIMM21,non_coding_transcript_exon_variant,,ENST00000581467,;	T	ENST00000169551	Transcript	synonymous_variant	703/3095	405/747	135/248	S	tcA/tcT		1		1	TIMM21	HGNC	HGNC:25010	protein_coding	YES	CCDS12003.1	ENSP00000169551	Q9BVV7	A8K1K8	UPI0000073827	NM_014177.2			3/6		Pfam_domain:PF08294,hmmpanther:PTHR13032																	LOW	1	SNV	1			1										PASS		rs1020281964	.												T	2	4	77	74155346	74155346	A	T	1	0	0	0	0	0	0	0	1	16348	204	8	4		4	TIMM21	18	74155346	Silent	SNP	A	C3N-01414_TP	19792508	74155346	6217939	478	25184											
KISS1R	0	.	GRCh38	chr19	919564	919564	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtgacggtgttcccgttGcgcgccctgcaccgccgcac	4	8	12	17	7	0	1	0	1	0	0	1	1	1	1	4	1	3	4	4	1	1	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.444G>A	p.=	p.L148L	ENST00000234371	3/5	415	371	44	560	560	0	strelka-varscan-mutect	KISS1R,synonymous_variant,p.=,ENST00000234371,NM_032551.4;KISS1R,synonymous_variant,p.=,ENST00000606939,;KISS1R,downstream_gene_variant,,ENST00000592648,;	A	ENST00000234371	Transcript	synonymous_variant	605/1625	444/1197	148/398	L	ttG/ttA		1		1	KISS1R	HGNC	HGNC:4510	protein_coding	YES	CCDS12049.1	ENSP00000234371	Q969F8		UPI0000070700	NM_032551.4			3/5		PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF78,hmmpanther:PTHR24230,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01728																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	919564	919564	G	A	1	0	0	0	0	0	0	0	1	8192	1310	46	3		3	KISS1R	19	919564	Silent	SNP	G	C3N-01414_TP		919564	57698052	479	25185											
STK11	0	.	GRCh38	chr19	1223052	1223053	+	Frame_Shift_Ins	INS	-	-	T																															accgagcccagacaccaaggINSaccggtggcgcagcatgact																								rs786200991		C3N-01414_TP	C3N-01414_NB	-	-																c.988_989insT	p.Asp330ValfsTer30	p.D330Vfs*30	ENST00000326873	8/10	97	39	58	168	168	0	sindel-varindel-pindel	STK11,frameshift_variant,p.Asp330ValfsTer30,ENST00000586243,;STK11,frameshift_variant,p.Asp330ValfsTer30,ENST00000326873,NM_000455.4;STK11,upstream_gene_variant,,ENST00000585465,;STK11,downstream_gene_variant,,ENST00000585748,;STK11,downstream_gene_variant,,ENST00000585851,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000591133,;STK11,downstream_gene_variant,,ENST00000586358,;STK11,downstream_gene_variant,,ENST00000593219,;	T	ENST00000326873	Transcript	frameshift_variant	1438-1439/2611	988-989/1302	330/433	D/VX	gac/gTac	rs786200991	1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4			8/10		Gene3D:1.10.510.10,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,Superfamily_domains:SSF56112										pathogenic							HIGH	1	insertion	1		1	1										PASS		.	.												T	7	5	77	1223052	1223052	-	T	1	0	1	1	0	0	0	0	0	15664	1174	41	0		0	STK11	19	1223052	Frame_Shift_Ins	INS	-	C3N-01414_TP	303488	1223052	57394564	480	25186											
ANKRD24	0	.	GRCh38	chr19	4216029	4216029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaccctgcaggatgaggagGgtgagctgcctgaccttcca	8	7	13	13	0	0	3	0	3	0	0	1	5	1	5	5	3	3	2	5	3	0	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1249G>T	p.Gly417Cys	p.G417C	ENST00000600132	16/22	186	144	42	257	257	0	strelka-varscan-mutect	ANKRD24,missense_variant,p.Gly417Cys,ENST00000600132,NM_133475.1;ANKRD24,missense_variant,p.Gly417Cys,ENST00000318934,;ANKRD24,missense_variant,p.Gly507Cys,ENST00000262970,;ANKRD24,missense_variant,p.Gly388Cys,ENST00000597689,;ANKRD24,non_coding_transcript_exon_variant,,ENST00000595096,;	T	ENST00000600132	Transcript	missense_variant	1525/4026	1249/3441	417/1146	G/C	Ggt/Tgt		1		1	ANKRD24	HGNC	HGNC:29424	protein_coding	YES	CCDS45925.1	ENSP00000471252	Q8TF21		UPI000041F5A9	NM_133475.1	deleterious(0)		16/22		hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF16																	MODERATE	1	SNV	5			1										PASS		rs1394473184	.												T	3	4	77	4216029	4216029	G	T	1	0	0	0	0	1	0	0	0	756	1232	43	2		2	ANKRD24	19	4216029	Missense_Mutation	SNP	G	C3N-01414_TP	2992977	4216029	54401587	481	25187											
CAMSAP3	0	.	GRCh38	chr19	7596104	7596104	+	Silent	SNP	G	G	A																															gatttctcgcgggccaaggcGgcggccagcctggcgtgggt																								novel		C3N-01414_TP	C3N-01414_NB	G	G																c.102G>A	p.=	p.A34A	ENST00000446248	1/19	109	91	18	184	183	1	strelka-varscan-mutect	CAMSAP3,synonymous_variant,p.=,ENST00000446248,NM_001080429.2;CAMSAP3,synonymous_variant,p.=,ENST00000160298,NM_020902.1;	A	ENST00000446248	Transcript	synonymous_variant	203/4179	102/3831	34/1276	A	gcG/gcA		1		1	CAMSAP3	HGNC	HGNC:29307	protein_coding	YES	CCDS45947.1	ENSP00000416797	Q9P1Y5		UPI0000161861	NM_001080429.2			1/19		Low_complexity_(Seg):seg,hmmpanther:PTHR21595:SF2,hmmpanther:PTHR21595																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	7596104	7596104	G	A	1	0	0	0	0	0	0	0	1	2305	1103	39	1		1	CAMSAP3	19	7596104	Silent	SNP	G	C3N-01414_TP	3380075	7596104	51021512	482	25188	528	2									
CAMSAP3	0	.	GRCh38	chr19	7596105	7596105	+	Missense_Mutation	SNP	G	G	T																															atttctcgcgggccaaggcgGcggccagcctggcgtgggtg																								novel		C3N-01414_TP	C3N-01414_NB	G	G																c.103G>T	p.Ala35Ser	p.A35S	ENST00000446248	1/19	109	93	16	177	177	0	strelka-varscan-mutect	CAMSAP3,missense_variant,p.Ala35Ser,ENST00000446248,NM_001080429.2;CAMSAP3,missense_variant,p.Ala35Ser,ENST00000160298,NM_020902.1;	T	ENST00000446248	Transcript	missense_variant	204/4179	103/3831	35/1276	A/S	Gcg/Tcg		1		1	CAMSAP3	HGNC	HGNC:29307	protein_coding	YES	CCDS45947.1	ENSP00000416797	Q9P1Y5		UPI0000161861	NM_001080429.2	tolerated(0.16)		1/19		Low_complexity_(Seg):seg,hmmpanther:PTHR21595:SF2,hmmpanther:PTHR21595																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	7596105	7596105	G	T	1	0	0	0	0	1	0	0	0	2305	1203	42	2		2	CAMSAP3	19	7596105	Missense_Mutation	SNP	G	C3N-01414_TP	1	7596105	51021511	483	25189	528	2									
FBN3	0	.	GRCh38	chr19	8110953	8110953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagaggttcccttgcgCacactcgtccacatctgcgg	7	9	10	15	3	1	1	0	0	1	1	4	1	3	1	2	2	3	3	2	2	0	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.4225G>T	p.Ala1409Ser	p.A1409S	ENST00000600128	34/64	188	137	51	280	280	0	strelka-varscan-mutect	FBN3,missense_variant,p.Ala1409Ser,ENST00000600128,;FBN3,missense_variant,p.Ala1409Ser,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Ala1409Ser,ENST00000601739,NM_001321431.1;FBN3,non_coding_transcript_exon_variant,,ENST00000594331,;	A	ENST00000600128	Transcript	missense_variant	4640/9362	4225/8430	1409/2809	A/S	Gcg/Tcg		1		-1	FBN3	HGNC	HGNC:18794	protein_coding	YES	CCDS12196.1	ENSP00000470498	Q75N90		UPI000013D88F		tolerated(1)		34/64		PROSITE_profiles:PS50026,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PROSITE_patterns:PS01187,PIRSF_domain:PIRSF036312,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	8110953	8110953	C	A	1	0	0	0	0	1	0	0	0	5567	710	25	2		2	FBN3	19	8110953	Missense_Mutation	SNP	C	C3N-01414_TP	514848	8110953	50506663	484	25190											
MUC16	0	.	GRCh38	chr19	8855995	8855995	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacaaggacactgctccTgtccagggtgaagttctgca	10	9	10	12	0	1	1	0	1	1	0	4	2	4	2	3	2	2	3	3	2	2	1			C3N-01414_TP	C3N-01414_NB	T	T																c.43282A>T	p.Arg14428Trp	p.R14428W	ENST00000397910	81/84	193	157	36	262	262	0	strelka-varscan-mutect	MUC16,missense_variant,p.Arg14428Trp,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Arg1251Trp,ENST00000599436,;MUC16,3_prime_UTR_variant,,ENST00000601404,;MUC16,3_prime_UTR_variant,,ENST00000596768,;	A	ENST00000397910	Transcript	missense_variant	43486/43816	43282/43524	14428/14507	R/W	Agg/Tgg	COSM715583	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			81/84		PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Gene3D:1ivzA00,SMART_domains:SM00200,Superfamily_domains:0047452											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	77	8855995	8855995	T	A	1	0	0	0	0	1	0	0	0	9972	1579	55	4		4	MUC16	19	8855995	Missense_Mutation	SNP	T	C3N-01414_TP	745042	8855995	49761621	485	25191											
MUC16	0	.	GRCh38	chr19	8978046	8978046	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaagccacagccatagaGcctgggccattcgtggtctc	9	8	12	12	1	1	2	0	0	1	2	3	2	1	2	4	2	3	1	4	2	3	3	rs17000948		C3N-01414_TP	C3N-01414_NB	G	G																c.3093C>A	p.=	p.G1031G	ENST00000397910	1/84	224	181	43	343	343	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	synonymous_variant	3297/43816	3093/43524	1031/14507	G	ggC/ggA	rs17000948	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84																			LOW	1	SNV	5			1										PASS		rs17000948	.												T	2	4	77	8978046	8978046	G	T	1	0	0	0	0	0	0	0	1	9972	958	34	2		2	MUC16	19	8978046	Silent	SNP	G	C3N-01414_TP	122051	8978046	49639570	486	25192											
WDR83	0	.	GRCh38	chr19	12673302	12673302	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacgggaaggtgttcttcTgggacctggtggaggtgagg	7	9	20	5	1	2	1	0	1	2	0	2	5	2	5	1	8	0	1	1	8	1	2	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.784T>A	p.Trp262Arg	p.W262R	ENST00000418543	10/11	137	101	36	167	167	0	strelka-varscan-mutect	WDR83,missense_variant,p.Trp262Arg,ENST00000418543,NM_001099737.2,NM_032332.3;WDR83,missense_variant,p.Trp194Arg,ENST00000547797,;WDR83OS,upstream_gene_variant,,ENST00000596731,NM_016145.3;DHPS,downstream_gene_variant,,ENST00000210060,NM_001930.3;DHPS,downstream_gene_variant,,ENST00000594424,NM_001206974.1;DHPS,downstream_gene_variant,,ENST00000614126,;DHPS,downstream_gene_variant,,ENST00000351660,NM_013406.2;WDR83OS,upstream_gene_variant,,ENST00000598732,;DHPS,downstream_gene_variant,,ENST00000597152,;WDR83OS,upstream_gene_variant,,ENST00000222190,;DHPS,downstream_gene_variant,,ENST00000596162,;CTD-2192J16.24,upstream_gene_variant,,ENST00000597961,;DHPS,downstream_gene_variant,,ENST00000598246,;DHPS,downstream_gene_variant,,ENST00000600864,;DHPS,downstream_gene_variant,,ENST00000600639,;WDR83OS,upstream_gene_variant,,ENST00000600694,;WDR83,3_prime_UTR_variant,,ENST00000548381,;WDR83,3_prime_UTR_variant,,ENST00000425834,;WDR83,non_coding_transcript_exon_variant,,ENST00000546754,;WDR83,non_coding_transcript_exon_variant,,ENST00000547255,;WDR83,non_coding_transcript_exon_variant,,ENST00000552700,;DHPS,downstream_gene_variant,,ENST00000601537,;DHPS,downstream_gene_variant,,ENST00000601639,;DHPS,downstream_gene_variant,,ENST00000600510,;WDR83,downstream_gene_variant,,ENST00000553179,;DHPS,downstream_gene_variant,,ENST00000595844,;DHPS,downstream_gene_variant,,ENST00000595912,;WDR83,downstream_gene_variant,,ENST00000547481,;DHPS,downstream_gene_variant,,ENST00000598850,;DHPS,downstream_gene_variant,,ENST00000596847,;WDR83,downstream_gene_variant,,ENST00000551329,;WDR83,downstream_gene_variant,,ENST00000550939,;DHPS,downstream_gene_variant,,ENST00000593400,;DHPS,downstream_gene_variant,,ENST00000600451,;	A	ENST00000418543	Transcript	missense_variant	1133/1457	784/948	262/315	W/R	Tgg/Agg		1		1	WDR83	HGNC	HGNC:32672	protein_coding	YES	CCDS12275.1	ENSP00000402653	Q9BRX9		UPI000006DE5C	NM_001099737.2,NM_032332.3	deleterious(0)		10/11		PROSITE_profiles:PS50294,hmmpanther:PTHR22842,PROSITE_patterns:PS00678,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00320																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	12673302	12673302	T	A	1	0	0	0	0	1	0	0	0	17887	1580	55	4		4	WDR83	19	12673302	Missense_Mutation	SNP	T	C3N-01414_TP	3695256	12673302	45944314	487	25193											
NOTCH3	0	.	GRCh38	chr19	15177547	15177547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtgcgctcgcggccacCggcgtggcagtcgaagttgt	6	7	16	12	6	0	0	0	0	0	0	2	1	0	0	2	3	1	4	2	3	2	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.4381G>T	p.Gly1461Cys	p.G1461C	ENST00000263388	24/33	326	263	63	483	483	0	strelka-varscan-mutect	NOTCH3,missense_variant,p.Gly1461Cys,ENST00000263388,NM_000435.2;NOTCH3,downstream_gene_variant,,ENST00000601011,;MIR6795,downstream_gene_variant,,ENST00000620824,;NOTCH3,downstream_gene_variant,,ENST00000600841,;NOTCH3,downstream_gene_variant,,ENST00000595045,;	A	ENST00000263388	Transcript	missense_variant	4457/8666	4381/6966	1461/2321	G/C	Ggt/Tgt		1		-1	NOTCH3	HGNC	HGNC:7883	protein_coding	YES	CCDS12326.1	ENSP00000263388	Q9UM47		UPI000013D3FA	NM_000435.2	deleterious(0.01)		24/33		hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF57,SMART_domains:SM00004																	MODERATE	1	SNV	1			1										PASS		rs1309726793	.												A	3	1	77	15177547	15177547	C	A	1	0	0	0	0	1	0	0	0	10595	652	23	1		1	NOTCH3	19	15177547	Missense_Mutation	SNP	C	C3N-01414_TP	2504245	15177547	43440069	488	25194											
NWD1	0	.	GRCh38	chr19	16765153	16765171	+	Frame_Shift_Del	DEL	CTCCAGCTCTGCCGCCCTG	CTCCAGCTCTGCCGCCCTG	-																															ttggcctggtccgtgaagccCtccagctctgccgccctgct																								novel		C3N-01414_TP	C3N-01414_NB	CTCCAGCTCTGCCGCCCTG	CTCCAGCTCTGCCGCCCTG																c.2373_2391delCCAGCTCTGCCGCCCTGCT	p.Gln792TrpfsTer87	p.Q792Wfs*87	ENST00000524140	10/19	216	185	31	329	329	0	sindel-pindel	NWD1,frameshift_variant,p.Gln792TrpfsTer87,ENST00000524140,NM_001007525.3;NWD1,frameshift_variant,p.Gln792TrpfsTer87,ENST00000379808,;NWD1,frameshift_variant,p.Gln792TrpfsTer87,ENST00000552788,NM_001290355.1;NWD1,frameshift_variant,p.Gln792TrpfsTer87,ENST00000549814,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;	-	ENST00000524140	Transcript	frameshift_variant	2789-2807/7641	2371-2389/4299	791-797/1432	LQLCRPA/X	CTCCAGCTCTGCCGCCCTGct/ct		1		1	NWD1	HGNC	HGNC:27619	protein_coding	YES	CCDS32945.2	ENSP00000428579	Q149M9		UPI0000D6173E	NM_001007525.3			10/19		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF472																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	77	16765153	16765153	CTCCAGCTCTGCCGCCCTG	-	1	0	1	0	1	0	0	0	0	10854	681	24	0		0	NWD1	19	16765153	Frame_Shift_Del	DEL	CTCCAGCTCTGCCGCCCTG	C3N-01414_TP	1587606	16765153	41852463	489	25195											
CPAMD8	0	.	GRCh38	chr19	16947202	16947202	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccaacaaactggatgcccTtgggaaccgagagcttcatg	11	7	11	12	1	1	1	1	0	0	1	1	4	1	3	3	2	5	1	3	2	3	2			C3N-01414_TP	C3N-01414_NB	T	T																c.2675A>T	p.Lys892Met	p.K892M	ENST00000443236	21/42	73	59	14	106	106	0	strelka-varscan-mutect	CPAMD8,missense_variant,p.Lys892Met,ENST00000443236,NM_015692.2;CPAMD8,3_prime_UTR_variant,,ENST00000388925,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000593420,;CPAMD8,downstream_gene_variant,,ENST00000602159,;	A	ENST00000443236	Transcript	missense_variant	2707/5992	2675/5799	892/1932	K/M	aAg/aTg	COSM50638	1		-1	CPAMD8	HGNC	HGNC:23228	protein_coding	YES	CCDS42519.1	ENSP00000402505	Q8IZJ3		UPI0000E8AC99	NM_015692.2	deleterious(0.01)		21/42		hmmpanther:PTHR11412:SF84,hmmpanther:PTHR11412,Superfamily_domains:SSF81296											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	77	16947202	16947202	T	A	1	0	0	0	0	1	0	0	0	3589	1609	56	4		4	CPAMD8	19	16947202	Missense_Mutation	SNP	T	C3N-01414_TP	182049	16947202	41670414	490	25196											
CRLF1	0	.	GRCh38	chr19	18596984	18596984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggcgacacccagcgcaCgctcagctggtcctccaggc	6	5	14	16	3	1	0	1	0	0	0	3	1	3	0	3	4	2	3	3	4	0	0	rs756906640		C3N-01414_TP	C3N-01414_NB	C	C																c.763G>A	p.Val255Met	p.V255M	ENST00000392386	5/9	190	177	13	223	223	0	strelka-varscan-mutect	CRLF1,missense_variant,p.Val255Met,ENST00000392386,NM_004750.4;CRLF1,missense_variant,p.Val77Met,ENST00000597131,;C19orf60,downstream_gene_variant,,ENST00000358607,NM_001100418.1;C19orf60,downstream_gene_variant,,ENST00000450195,NM_001100419.1;C19orf60,downstream_gene_variant,,ENST00000595490,;CRLF1,upstream_gene_variant,,ENST00000594325,;CRLF1,downstream_gene_variant,,ENST00000593286,;C19orf60,downstream_gene_variant,,ENST00000595077,;C19orf60,downstream_gene_variant,,ENST00000600997,;C19orf60,downstream_gene_variant,,ENST00000598375,;C19orf60,downstream_gene_variant,,ENST00000597371,;C19orf60,downstream_gene_variant,,ENST00000601736,;CRLF1,upstream_gene_variant,,ENST00000596360,;	T	ENST00000392386	Transcript	missense_variant	957/1792	763/1269	255/422	V/M	Gtg/Atg	rs756906640	1		-1	CRLF1	HGNC	HGNC:2364	protein_coding	YES	CCDS32962.1	ENSP00000376188	O75462		UPI000000DA9E	NM_004750.4	deleterious(0.02)		5/9		PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF100,hmmpanther:PTHR23036,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs756906640	.												T	3	4	77	18596984	18596984	C	T	1	0	0	0	0	1	0	0	0	3687	536	19	1		1	CRLF1	19	18596984	Missense_Mutation	SNP	C	C3N-01414_TP	1649782	18596984	40020632	491	25197											
ZNF626	0	.	GRCh38	chr19	20625108	20625108	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccacatttatcacacttgtAgggtttctctccagtatgat	9	15	7	10	0	2	1	1	1	1	0	4	1	3	1	2	1	0	3	2	1	3	6	rs782685901		C3N-01414_TP	C3N-01414_NB	A	A																c.769T>A	p.Tyr257Asn	p.Y257N	ENST00000601440	4/4	202	154	48	321	321	0	strelka-varscan-mutect	ZNF626,missense_variant,p.Tyr257Asn,ENST00000601440,NM_001076675.2;ZNF626,missense_variant,p.Tyr257Asn,ENST00000612591,;ZNF626,downstream_gene_variant,,ENST00000595405,;CTC-513N18.7,intron_variant,,ENST00000595094,;	T	ENST00000601440	Transcript	missense_variant	916/5963	769/1587	257/528	Y/N	Tac/Aac	rs782685901,COSM4744480	1		-1	ZNF626	HGNC	HGNC:30461	protein_coding	YES	CCDS42535.1	ENSP00000469958	Q68DY1		UPI000035E843	NM_001076675.2	deleterious(0.02)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF129,hmmpanther:PTHR24384,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1						MODERATE	1	SNV	4		0,1	1										PASS		rs782685901	.												T	3	4	77	20625108	20625108	A	T	1	0	0	0	0	1	0	0	0	18625	420	15	4		4	ZNF626	19	20625108	Missense_Mutation	SNP	A	C3N-01414_TP	2028124	20625108	37992508	492	25198											
ZNF98	0	.	GRCh38	chr19	22392948	22392948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattttttttgccctgctttGgccaaaggtcttgggcaaaa	9	15	9	8	0	1	0	0	0	1	0	1	0	1	0	2	3	2	2	2	3	4	6	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.287C>A	p.Pro96Gln	p.P96Q	ENST00000357774	4/4	54	46	8	98	97	1	strelka-varscan-mutect	ZNF98,missense_variant,p.Pro96Gln,ENST00000357774,NM_001098626.1;ZNF98,missense_variant,p.Pro55Gln,ENST00000593657,;	T	ENST00000357774	Transcript	missense_variant	409/2338	287/1719	96/572	P/Q	cCa/cAa		1		-1	ZNF98	HGNC	HGNC:13174	protein_coding	YES	CCDS46031.1	ENSP00000350418	A6NK75		UPI0000251DC5	NM_001098626.1	tolerated(0.06)		4/4		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108																	MODERATE	1	SNV	3			1										PASS		rs948277901	.												T	3	4	77	22392948	22392948	G	T	1	0	0	0	0	1	0	0	0	18796	1348	47	2		2	ZNF98	19	22392948	Missense_Mutation	SNP	G	C3N-01414_TP	1767840	22392948	36224668	493	25199											
ZNF728	0	.	GRCh38	chr19	22976569	22976569	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccacattcttcacatttGtaatgtttctctccagtatg	8	18	5	10	0	3	0	1	0	2	0	5	0	4	0	2	0	1	3	2	0	2	7	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.768C>A	p.Tyr256Ter	p.Y256*	ENST00000594710	4/4	405	360	45	587	587	0	strelka-varscan-mutect	ZNF728,stop_gained,p.Tyr256Ter,ENST00000594710,NM_001267716.1;ZNF728,downstream_gene_variant,,ENST00000599851,;	T	ENST00000594710	Transcript	stop_gained	914/2015	768/1869	256/622	Y/*	taC/taA		1		-1	ZNF728	HGNC	HGNC:32463	protein_coding	YES	CCDS59370.1	ENSP00000471593	P0DKX0		UPI0002656E4B	NM_001267716.1			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF239,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	3			1										PASS		.	.												T	4	4	77	22976569	22976569	G	T	1	0	0	0	0	0	1	0	0	18702	1372	48	2		2	ZNF728	19	22976569	Nonsense_Mutation	SNP	G	C3N-01414_TP	583621	22976569	35641047	494	25200											
ZNF91	0	.	GRCh38	chr19	23374717	23374717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgtccagacattgccaCtcctccggagagaattctat	10	10	9	12	1	1	2	0	0	1	2	4	4	4	3	4	1	1	1	4	1	2	3	rs369467332		C3N-01414_TP	C3N-01414_NB	C	C																c.78G>T	p.Glu26Asp	p.E26D	ENST00000300619	2/4	235	184	51	387	387	0	strelka-varscan-mutect	ZNF91,missense_variant,p.Glu26Asp,ENST00000300619,NM_003430.3;ZNF91,missense_variant,p.Glu26Asp,ENST00000397082,NM_001300951.1;ZNF91,missense_variant,p.Glu26Asp,ENST00000599743,;ZNF91,intron_variant,,ENST00000595533,;ZNF91,non_coding_transcript_exon_variant,,ENST00000596989,;	A	ENST00000300619	Transcript	missense_variant	284/5489	78/3576	26/1191	E/D	gaG/gaT	rs369467332	1		-1	ZNF91	HGNC	HGNC:13166	protein_coding	YES	CCDS42541.1	ENSP00000300619	Q05481		UPI00002038F9	NM_003430.3	deleterious(0)		2/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF195,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637																	MODERATE	1	SNV	1			1										PASS		rs369467332	.												A	3	1	77	23374717	23374717	C	A	1	0	0	0	0	1	0	0	0	18793	564	20	2		2	ZNF91	19	23374717	Missense_Mutation	SNP	C	C3N-01414_TP	398148	23374717	35242899	495	25201											
HSPB6	0	.	GRCh38	chr19	35755602	35755602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgccctcgggggacagcgCggacgtcacggcagccggat	7	3	17	14	7	1	0	1	0	0	0	2	4	1	3	2	5	2	1	2	5	0	0	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.403G>A	p.Ala135Thr	p.A135T	ENST00000592984	4/4	125	106	19	196	196	0	strelka-varscan-mutect	HSPB6,missense_variant,p.Ala135Thr,ENST00000592984,;HSPB6,missense_variant,p.Ala135Thr,ENST00000004982,NM_144617.2;HSPB6,3_prime_UTR_variant,,ENST00000587965,;PROSER3,upstream_gene_variant,,ENST00000396908,NM_001039887.2;PROSER3,upstream_gene_variant,,ENST00000536950,;LIN37,downstream_gene_variant,,ENST00000301159,NM_019104.2;PROSER3,upstream_gene_variant,,ENST00000301165,;PROSER3,upstream_gene_variant,,ENST00000537459,;PROSER3,upstream_gene_variant,,ENST00000421853,;PROSER3,upstream_gene_variant,,ENST00000545674,;PROSER3,upstream_gene_variant,,ENST00000444637,;LIN37,downstream_gene_variant,,ENST00000591163,;PROSER3,upstream_gene_variant,,ENST00000542134,;LIN37,downstream_gene_variant,,ENST00000587751,;AC002398.11,upstream_gene_variant,,ENST00000591091,;AC002398.12,downstream_gene_variant,,ENST00000587767,;PROSER3,upstream_gene_variant,,ENST00000544876,;LIN37,downstream_gene_variant,,ENST00000591076,;PROSER3,upstream_gene_variant,,ENST00000620918,;PROSER3,upstream_gene_variant,,ENST00000600988,;LIN37,downstream_gene_variant,,ENST00000595455,;LIN37,downstream_gene_variant,,ENST00000587108,;LIN37,downstream_gene_variant,,ENST00000590706,;AC002398.9,downstream_gene_variant,,ENST00000591613,;PROSER3,upstream_gene_variant,,ENST00000601095,;LIN37,downstream_gene_variant,,ENST00000590890,;LIN37,downstream_gene_variant,,ENST00000592871,;PROSER3,upstream_gene_variant,,ENST00000539771,;	T	ENST00000592984	Transcript	missense_variant	600/1634	403/483	135/160	A/T	Gcg/Acg		1		-1	HSPB6	HGNC	HGNC:26511	protein_coding	YES	CCDS12475.1	ENSP00000468057	O14558	V9HWB6	UPI000012CCD5		tolerated(0.1)		4/4		Gene3D:2.60.40.790,Pfam_domain:PF00011,Prints_domain:PR00299,PROSITE_profiles:PS01031,hmmpanther:PTHR11527,hmmpanther:PTHR11527:SF109,Superfamily_domains:SSF49764																	MODERATE		SNV	4			1										PASS		.	.												T	3	4	77	35755602	35755602	C	T	1	0	0	0	0	1	0	0	0	7318	768	27	1		1	HSPB6	19	35755602	Missense_Mutation	SNP	C	C3N-01414_TP	12380885	35755602	22862014	496	25202											
NFKBID	0	.	GRCh38	chr19	35896119	35896119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatggccgtgtggagcGgggtgaggcctgcagaatgg	7	6	20	8	2	0	2	0	1	0	1	0	4	0	4	3	7	2	1	3	7	1	0			C3N-01414_TP	C3N-01414_NB	G	G																c.467C>T	p.Pro156Leu	p.P156L	ENST00000396901	9/12	158	109	49	223	223	0	strelka-varscan-mutect	NFKBID,missense_variant,p.Pro156Leu,ENST00000396901,NM_139239.1;NFKBID,missense_variant,p.Pro156Leu,ENST00000606253,;NFKBID,downstream_gene_variant,,ENST00000585925,;NFKBID,downstream_gene_variant,,ENST00000585544,;NFKBID,missense_variant,p.Pro18Leu,ENST00000590828,;NFKBID,non_coding_transcript_exon_variant,,ENST00000586361,;NFKBID,non_coding_transcript_exon_variant,,ENST00000588497,;NFKBID,downstream_gene_variant,,ENST00000591730,;NFKBID,downstream_gene_variant,,ENST00000590094,;NFKBID,downstream_gene_variant,,ENST00000588039,;	A	ENST00000396901	Transcript	missense_variant	1041/1834	467/942	156/313	P/L	cCg/cTg	COSM3371274,COSM3371275,COSM5244793,COSM5244794	1		-1	NFKBID	HGNC	HGNC:15671	protein_coding	YES	CCDS42552.1	ENSP00000380109	Q8NI38		UPI000006EE99	NM_139239.1	deleterious(0)		9/12		PROSITE_profiles:PS50297,hmmpanther:PTHR24124,hmmpanther:PTHR24124:SF7,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs1440823199	.												A	3	1	77	35896119	35896119	G	A	1	0	0	0	0	1	0	0	0	10416	1116	39	1		1	NFKBID	19	35896119	Missense_Mutation	SNP	G	C3N-01414_TP	140517	35896119	22721497	497	25203											
ZNF585B	0	.	GRCh38	chr19	37186879	37186879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttataagggaaacctttccCacattcactacattcatata	14	13	4	10	0	2	0	2	0	0	0	3	1	3	1	2	1	2	1	2	1	6	8	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.658G>T	p.Gly220Trp	p.G220W	ENST00000532828	5/5	148	104	44	210	210	0	strelka-varscan-mutect	ZNF585B,missense_variant,p.Gly220Trp,ENST00000532828,NM_152279.3;ZNF585B,missense_variant,p.Gly165Trp,ENST00000531805,;ZNF585B,3_prime_UTR_variant,,ENST00000527838,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585B,downstream_gene_variant,,ENST00000591492,;ZNF585B,downstream_gene_variant,,ENST00000586320,;CTC-454I21.3,intron_variant,,ENST00000585860,;CTC-454I21.3,intron_variant,,ENST00000590245,;ZNF585B,downstream_gene_variant,,ENST00000392156,;ZNF585B,downstream_gene_variant,,ENST00000591273,;ZNF585B,downstream_gene_variant,,ENST00000526705,;	A	ENST00000532828	Transcript	missense_variant	910/6210	658/2310	220/769	G/W	Ggg/Tgg		1		-1	ZNF585B	HGNC	HGNC:30948	protein_coding	YES	CCDS12500.1	ENSP00000433773	Q52M93		UPI00001AF01B	NM_152279.3	deleterious(0)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF105,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	37186879	37186879	C	A	1	0	0	0	0	1	0	0	0	18592	594	21	2		2	ZNF585B	19	37186879	Missense_Mutation	SNP	C	C3N-01414_TP	1290760	37186879	21430737	498	25204											
PSMD8	0	.	GRCh38	chr19	38374806	38374806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaagatggcggccgcggcgGtgaacggggcggcaggcttc	6	4	20	11	6	0	2	0	1	0	1	1	2	0	2	1	8	1	3	1	8	2	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.205G>T	p.Val69Leu	p.V69L	ENST00000215071	1/7	172	118	54	249	249	0	strelka-varscan-mutect	PSMD8,missense_variant,p.Val69Leu,ENST00000215071,;PSMD8,missense_variant,p.Val69Leu,ENST00000620216,NM_002812.4;PSMD8,missense_variant,p.Val6Leu,ENST00000602911,;PSMD8,missense_variant,p.Val6Leu,ENST00000592561,;PSMD8,missense_variant,p.Val6Leu,ENST00000585598,;CATSPERG,downstream_gene_variant,,ENST00000409235,NM_021185.4;CATSPERG,downstream_gene_variant,,ENST00000410018,;PSMD8,upstream_gene_variant,,ENST00000592035,;PSMD8,upstream_gene_variant,,ENST00000591250,;PSMD8,non_coding_transcript_exon_variant,,ENST00000592001,;PSMD8,non_coding_transcript_exon_variant,,ENST00000591216,;CATSPERG,downstream_gene_variant,,ENST00000471517,;CATSPERG,downstream_gene_variant,,ENST00000492088,;CATSPERG,downstream_gene_variant,,ENST00000312265,;CATSPERG,downstream_gene_variant,,ENST00000412458,;	T	ENST00000215071	Transcript	missense_variant	271/1553	205/1053	69/350	V/L	Gtg/Ttg		1		1	PSMD8	HGNC	HGNC:9566	protein_coding	YES	CCDS12515.2	ENSP00000215071	P48556	V9HW09	UPI000059D712		tolerated_low_confidence(0.09)		1/7		hmmpanther:PTHR12387,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	38374806	38374806	G	T	1	0	0	0	0	1	0	0	0	12855	1261	44	2		2	PSMD8	19	38374806	Missense_Mutation	SNP	G	C3N-01414_TP	1187927	38374806	20242810	499	25205											
ACP7	0	.	GRCh38	chr19	39098598	39098598	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggacgggggcattctcCggcggaagctctacatacac	8	9	13	11	3	2	0	0	0	2	0	3	2	2	2	1	5	3	2	1	5	3	4	rs761395482		C3N-01414_TP	C3N-01414_NB	C	C																c.262C>G	p.Arg88Gly	p.R88G	ENST00000331256	3/13	95	89	6	160	160	0	strelka-varscan-mutect	ACP7,missense_variant,p.Arg88Gly,ENST00000331256,NM_001004318.2;ACP7,missense_variant,p.Arg88Gly,ENST00000594229,;ACP7,upstream_gene_variant,,ENST00000601531,;ACP7,missense_variant,p.Arg88Gly,ENST00000601575,;	G	ENST00000331256	Transcript	missense_variant	536/2966	262/1317	88/438	R/G	Cgg/Ggg	rs761395482	1		1	ACP7	HGNC	HGNC:33781	protein_coding	YES	CCDS33018.1	ENSP00000327557	Q6ZNF0		UPI000041AA68	NM_001004318.2	tolerated(0.16)		3/13		Gene3D:2qfpA01,Pfam_domain:PF16656,hmmpanther:PTHR22953,hmmpanther:PTHR22953:SF9,Superfamily_domains:SSF49363																	MODERATE	1	SNV	2			1										PASS		rs761395482	.												G	3	3	77	39098598	39098598	C	G	1	0	0	0	0	1	0	0	0	208	643	23	4		4	ACP7	19	39098598	Missense_Mutation	SNP	C	C3N-01414_TP	723792	39098598	19519018	500	25206											
IFNL1	0	.	GRCh38	chr19	39298481	39298481	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggccgatgggaacctgTgtctgagaacgtcaacccac	10	8	12	11	2	2	1	1	1	1	1	2	4	2	2	3	2	3	0	3	2	3	0	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.568T>A	p.Cys190Ser	p.C190S	ENST00000333625	5/5	186	137	49	282	282	0	strelka-varscan-mutect	IFNL1,missense_variant,p.Cys190Ser,ENST00000333625,NM_172140.1;	A	ENST00000333625	Transcript	missense_variant	665/857	568/603	190/200	C/S	Tgt/Agt		1		1	IFNL1	HGNC	HGNC:18363	protein_coding	YES	CCDS12531.1	ENSP00000329991	Q8IU54		UPI00000474AE	NM_172140.1	deleterious(0)		5/5		PD856660,hmmpanther:PTHR31943,hmmpanther:PTHR31943:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	39298481	39298481	T	A	1	0	0	0	0	1	0	0	0	7452	1696	59	4		4	IFNL1	19	39298481	Missense_Mutation	SNP	T	C3N-01414_TP	199883	39298481	19319135	501	25207											
AXL	0	.	GRCh38	chr19	41222002	41222003	+	In_Frame_Ins	INS	-	-	TTT																															actctggctccaggatgctgINStccccctggccacggctcca																								novel		C3N-01414_TP	C3N-01414_NB	-	-																c.533_534insTTT	p.Val178_Pro179insPhe	p.V178_P179insF	ENST00000301178	4/20	121	83	38	152	152	0	sindel-varindel	AXL,inframe_insertion,p.Val178_Pro179insPhe,ENST00000301178,NM_021913.4;AXL,inframe_insertion,p.Val178_Pro179insPhe,ENST00000359092,NM_001699.5;AXL,upstream_gene_variant,,ENST00000593513,NM_001278599.1;CTD-2195B23.3,non_coding_transcript_exon_variant,,ENST00000598541,;AXL,downstream_gene_variant,,ENST00000594880,;AXL,non_coding_transcript_exon_variant,,ENST00000599659,;	TTT	ENST00000301178	Transcript	inframe_insertion	722-723/4737	532-533/2685	178/894	V/VF	gtc/gTTTtc		1		1	AXL	HGNC	HGNC:905	protein_coding	YES	CCDS12575.1	ENSP00000301178	P30530		UPI000014319B	NM_021913.4			4/20		PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF323,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	insertion	1	1		1										PASS		.	.												TTT	7	5	77	41222002	41222002	-	TTT	1	0	1	1	0	0	0	0	0	1395	1377	48	0		0	AXL	19	41222002	In_Frame_Ins	INS	-	C3N-01414_TP	1923521	41222002	17395614	502	25208	529	2									
AXL	0	.	GRCh38	chr19	41222008	41222008	+	Missense_Mutation	SNP	C	C	G																															ggctccaggatgctgtccccCtggccacggctccaggtcac																								rs150285609		C3N-01414_TP	C3N-01414_NB	C	C																c.538C>G	p.Leu180Val	p.L180V	ENST00000301178	4/20	120	83	37	151	151	0	strelka-varscan-mutect	AXL,missense_variant,p.Leu180Val,ENST00000301178,NM_021913.4;AXL,missense_variant,p.Leu180Val,ENST00000359092,NM_001699.5;AXL,upstream_gene_variant,,ENST00000593513,NM_001278599.1;CTD-2195B23.3,non_coding_transcript_exon_variant,,ENST00000598541,;AXL,downstream_gene_variant,,ENST00000594880,;AXL,non_coding_transcript_exon_variant,,ENST00000599659,;	G	ENST00000301178	Transcript	missense_variant	728/4737	538/2685	180/894	L/V	Ctg/Gtg	rs150285609	1		1	AXL	HGNC	HGNC:905	protein_coding	YES	CCDS12575.1	ENSP00000301178	P30530		UPI000014319B	NM_021913.4	tolerated(0.69)		4/20		PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF323,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs150285609	.												G	3	3	77	41222008	41222008	C	G	1	0	0	0	0	1	0	0	0	1395	680	24	4		4	AXL	19	41222008	Missense_Mutation	SNP	C	C3N-01414_TP	6	41222008	17395608	503	25209	529	2									
ZNF180	0	.	GRCh38	chr19	44476585	44476585	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacactgattacattcaaaTggtttctctccagtatgagt	11	14	6	10	0	2	2	1	2	1	0	4	2	3	2	2	1	1	2	2	1	3	4	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.1896A>C	p.=	p.P632P	ENST00000221327	5/5	187	164	23	272	272	0	strelka-varscan-mutect	ZNF180,synonymous_variant,p.=,ENST00000221327,NM_013256.5,NM_001288759.2;ZNF180,synonymous_variant,p.=,ENST00000391956,NM_001278508.2;ZNF180,synonymous_variant,p.=,ENST00000592529,NM_001278509.2,NM_001291633.1;ZNF180,downstream_gene_variant,,ENST00000586637,;ZNF180,downstream_gene_variant,,ENST00000591064,;ZNF180,downstream_gene_variant,,ENST00000587047,;ZNF180,downstream_gene_variant,,ENST00000585514,;ZNF180,3_prime_UTR_variant,,ENST00000592095,;ZNF180,3_prime_UTR_variant,,ENST00000590088,;ZNF285B,downstream_gene_variant,,ENST00000561698,;	G	ENST00000221327	Transcript	synonymous_variant	2178/4335	1896/2079	632/692	P	ccA/ccC		1		-1	ZNF180	HGNC	HGNC:12970	protein_coding	YES	CCDS12639.1	ENSP00000221327	Q9UJW8		UPI000013C30E	NM_013256.5,NM_001288759.2			5/5		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF27,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	77	44476585	44476585	T	G	1	0	0	0	0	0	0	0	1	18328	1451	51	5		5	ZNF180	19	44476585	Silent	SNP	T	C3N-01414_TP	3254577	44476585	14141031	504	25210											
PNMAL2	0	.	GRCh38	chr19	46493840	46493840	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggccggagtcaggcccctGggggccgtgcgcgccctctt	2	6	16	17	5	2	0	1	0	1	0	2	1	2	1	6	5	1	0	6	5	0	1	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1626C>A	p.=	p.P542P	ENST00000599531	1/1	31	26	5	37	37	0	strelka-varscan-mutect	PNMAL2,synonymous_variant,p.=,ENST00000599531,NM_020709.2;PPP5D1,intron_variant,,ENST00000602017,NM_001205281.1;CTB-158D10.3,upstream_gene_variant,,ENST00000377652,;PNMAL2,intron_variant,,ENST00000594749,;PPP5D1,upstream_gene_variant,,ENST00000595691,;	T	ENST00000599531	Transcript	synonymous_variant	2659/5308	1626/1908	542/635	P	ccC/ccA		1		-1	PNMAL2	HGNC	HGNC:29206	protein_coding	YES	CCDS59400.1	ENSP00000473036	Q9ULN7		UPI0000237925	NM_020709.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23095:SF25,hmmpanther:PTHR23095																	LOW		SNV				1										PASS		rs1220510406	.												T	2	4	77	46493840	46493840	G	T	1	0	0	0	0	0	0	0	1	12266	1335	47	2		2	PNMAL2	19	46493840	Silent	SNP	G	C3N-01414_TP	2017255	46493840	12123776	505	25211											
FPR1	0	.	GRCh38	chr19	51746356	51746356	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagcaacgatggacatGggtgcgctgaagccaatgat	12	7	13	9	2	0	3	0	3	0	0	0	5	0	4	1	2	4	2	1	2	3	0	rs141229910		C3N-01414_TP	C3N-01414_NB	G	G																c.639C>A	p.=	p.P213P	ENST00000595042	3/3	296	224	72	426	425	1	strelka-varscan-mutect	FPR1,synonymous_variant,p.=,ENST00000595042,NM_001193306.1;FPR1,synonymous_variant,p.=,ENST00000304748,NM_002029.3;FPR1,downstream_gene_variant,,ENST00000600815,;FPR1,downstream_gene_variant,,ENST00000594900,;	T	ENST00000595042	Transcript	synonymous_variant	781/1965	639/1053	213/350	P	ccC/ccA	rs141229910	1		-1	FPR1	HGNC	HGNC:3826	protein_coding	YES	CCDS12839.1	ENSP00000471493	P21462		UPI0000050484	NM_001193306.1			3/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24225:SF15,hmmpanther:PTHR24225,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV	2			1										PASS		rs141229910	.												T	2	4	77	51746356	51746356	G	T	1	0	0	0	0	0	0	0	1	5904	1335	47	2		2	FPR1	19	51746356	Silent	SNP	G	C3N-01414_TP	5252516	51746356	6871260	506	25212											
ZNF880	0	.	GRCh38	chr19	52385264	52385264	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggacttcactcgaaattcaAacctggcaaatcatcacaga	16	8	6	11	1	4	1	4	0	0	1	5	3	4	2	1	2	1	1	1	2	3	2			C3N-01414_TP	C3N-01414_NB	A	A																c.1684A>T	p.Asn562Tyr	p.N562Y	ENST00000422689	4/4	131	118	13	198	198	0	strelka-varscan-mutect	ZNF880,missense_variant,p.Asn562Tyr,ENST00000422689,NM_001145434.1;ZNF880,downstream_gene_variant,,ENST00000424032,;ZNF528-AS1,downstream_gene_variant,,ENST00000601562,;ZNF528-AS1,downstream_gene_variant,,ENST00000594119,;	T	ENST00000422689	Transcript	missense_variant	1699/2230	1684/1734	562/577	N/Y	Aac/Tac	COSM1197042	1		1	ZNF880	HGNC	HGNC:37249	protein_coding	YES	CCDS46164.1	ENSP00000406318	Q6PDB4		UPI00001D818D	NM_001145434.1	tolerated(0.54)		4/4		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF335,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	77	52385264	52385264	A	T	1	0	0	0	0	1	0	0	0	18789	14	1	4		4	ZNF880	19	52385264	Missense_Mutation	SNP	A	C3N-01414_TP	638908	52385264	6232352	507	25213											
ZNF528	0	.	GRCh38	chr19	52415832	52415832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagagaaaccttacagttGtaataaatgtggcaaggtct	14	11	11	5	0	1	1	0	0	1	1	1	3	1	2	1	3	2	3	1	3	6	4	rs767287723		C3N-01414_TP	C3N-01414_NB	G	G																c.980G>T	p.Cys327Phe	p.C327F	ENST00000360465	7/7	160	146	14	188	187	1	strelka-varscan-mutect	ZNF528,missense_variant,p.Cys327Phe,ENST00000360465,NM_032423.2;ZNF528,3_prime_UTR_variant,,ENST00000391788,;ZNF528,downstream_gene_variant,,ENST00000448954,;ZNF528,non_coding_transcript_exon_variant,,ENST00000598479,;ZNF528,downstream_gene_variant,,ENST00000479718,;	T	ENST00000360465	Transcript	missense_variant	1406/3978	980/1887	327/628	C/F	tGt/tTt	rs767287723	1		1	ZNF528	HGNC	HGNC:29384	protein_coding	YES	CCDS33091.1	ENSP00000353652	Q3MIS6		UPI00001B6535	NM_032423.2	deleterious(0)		7/7		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF143,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs767287723	.												T	3	4	77	52415832	52415832	G	T	1	0	0	0	0	1	0	0	0	18542	1377	48	2		2	ZNF528	19	52415832	Missense_Mutation	SNP	G	C3N-01414_TP	30568	52415832	6201784	508	25214											
ZNF808	0	.	GRCh38	chr19	52553511	52553511	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcccaaagaatttcctgtAggccccaaatccatatttct	12	12	4	13	0	1	1	0	0	1	1	4	1	4	1	5	1	0	1	5	1	5	4	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.595A>T	p.Arg199Trp	p.R199W	ENST00000359798	5/5	216	167	49	342	342	0	strelka-varscan-mutect	ZNF808,missense_variant,p.Arg199Trp,ENST00000359798,NM_001321424.1,NM_001039886.3;ZNF808,upstream_gene_variant,,ENST00000611267,;ZNF808,downstream_gene_variant,,ENST00000465448,;ZNF808,downstream_gene_variant,,ENST00000461321,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF808,downstream_gene_variant,,ENST00000486474,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,missense_variant,p.Arg130Trp,ENST00000487863,;	T	ENST00000359798	Transcript	missense_variant	775/3600	595/2712	199/903	R/W	Agg/Tgg		1		1	ZNF808	HGNC	HGNC:33230	protein_coding	YES	CCDS46167.1	ENSP00000352846	Q8N4W9		UPI000041AA80	NM_001321424.1,NM_001039886.3	deleterious(0.02)		5/5																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	77	52553511	52553511	A	T	1	0	0	0	0	1	0	0	0	18758	411	15	4		4	ZNF808	19	52553511	Missense_Mutation	SNP	A	C3N-01414_TP	137679	52553511	6064105	509	25215											
ZNF83	0	.	GRCh38	chr19	52613238	52613238	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccgatgatgtgctagggAtgagtttagaccgaagacct	10	12	12	7	2	0	4	0	2	0	2	1	7	1	5	3	1	1	2	3	1	3	4	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1327T>G	p.Ser443Ala	p.S443A	ENST00000597597	2/2	133	120	13	194	193	1	strelka-varscan-mutect	ZNF83,missense_variant,p.Ser443Ala,ENST00000597597,NM_001277946.1;ZNF83,missense_variant,p.Ser443Ala,ENST00000541777,;ZNF83,missense_variant,p.Ser443Ala,ENST00000536937,NM_001105550.1,NM_001105552.1,NM_001277948.1,NM_001105551.1,NM_001277945.1,NM_001277952.1,NM_001277949.1,NM_001105549.1;ZNF83,missense_variant,p.Ser443Ala,ENST00000545872,NM_001277951.1;ZNF83,missense_variant,p.Ser443Ala,ENST00000301096,NM_001277947.1,NM_018300.3;ZNF83,3_prime_UTR_variant,,ENST00000594682,;ZNF83,intron_variant,,ENST00000600714,;ZNF83,intron_variant,,ENST00000601257,;ZNF83,downstream_gene_variant,,ENST00000596930,;ZNF83,downstream_gene_variant,,ENST00000598536,;ZNF83,downstream_gene_variant,,ENST00000597161,;ZNF83,downstream_gene_variant,,ENST00000595171,;ZNF83,downstream_gene_variant,,ENST00000595939,;ZNF83,downstream_gene_variant,,ENST00000601140,;	C	ENST00000597597	Transcript	missense_variant	3581/4442	1327/1551	443/516	S/A	Tcc/Gcc		1		-1	ZNF83	HGNC	HGNC:13158	protein_coding	YES	CCDS12854.1	ENSP00000472619	P51522	A0A024R4L3	UPI000013E6CF	NM_001277946.1	tolerated(0.53)		2/2		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1322585859	.												C	3	2	77	52613238	52613238	A	C	1	0	0	0	0	1	0	0	0	18768	333	12	5		5	ZNF83	19	52613238	Missense_Mutation	SNP	A	C3N-01414_TP	59727	52613238	6004378	510	25216											
ERVV-1	0	.	GRCh38	chr19	53015333	53015333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttatgtcaataacagtgggGcgatagaggaggatataaaa	16	10	12	3	1	1	1	1	0	0	1	1	4	1	3	0	4	1	0	0	4	7	6	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1243G>T	p.Ala415Ser	p.A415S	ENST00000602168	1/1	240	192	48	358	356	2	strelka-varscan-mutect	ERVV-1,missense_variant,p.Ala415Ser,ENST00000602168,NM_152473.2;CTD-2620I22.3,downstream_gene_variant,,ENST00000596769,;ZNF702P,intron_variant,,ENST00000600425,;ZNF702P,intron_variant,,ENST00000594516,;	T	ENST00000602168	Transcript	missense_variant	1413/2202	1243/1434	415/477	A/S	Gcg/Tcg		1		1	ERVV-1	HGNC	HGNC:26501	protein_coding	YES	CCDS59419.1	ENSP00000473153	B6SEH8	M9QQA5	UPI00018258B8	NM_152473.2	tolerated(0.73)		1/1		hmmpanther:PTHR10424:SF8,hmmpanther:PTHR10424,Pfam_domain:PF00429,Gene3D:1.10.287.210,Superfamily_domains:SSF58069																	MODERATE		SNV				1										PASS		.	.												T	3	4	77	53015333	53015333	G	T	1	0	0	0	0	1	0	0	0	5106	1203	42	2		2	ERVV-1	19	53015333	Missense_Mutation	SNP	G	C3N-01414_TP	402095	53015333	5602283	511	25217											
ZNF415	0	.	GRCh38	chr19	53109401	53109401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcactcaatatatctgtaaGgtttttccctaatgcatgat	11	15	6	9	1	2	1	1	1	1	0	3	1	3	1	1	1	1	4	1	1	5	6			C3N-01414_TP	C3N-01414_NB	G	G																c.644C>A	p.Pro215His	p.P215H	ENST00000500065	4/4	151	124	27	210	209	1	strelka-varscan-mutect	ZNF415,missense_variant,p.Pro215His,ENST00000500065,NM_001136038.2;ZNF415,missense_variant,p.Pro215His,ENST00000421033,NM_001164309.1;ZNF415,missense_variant,p.Pro215His,ENST00000243643,NM_018355.3;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF415,5_prime_UTR_variant,,ENST00000601493,;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,downstream_gene_variant,,ENST00000601110,;ZNF415,downstream_gene_variant,,ENST00000595813,;ZNF415,downstream_gene_variant,,ENST00000601215,;ZNF415,downstream_gene_variant,,ENST00000595174,;ZNF415,downstream_gene_variant,,ENST00000595359,;ZNF415,downstream_gene_variant,,ENST00000602024,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;	T	ENST00000500065	Transcript	missense_variant	978/2496	644/1668	215/555	P/H	cCt/cAt	COSM3707359,COSM4781253	1		-1	ZNF415	HGNC	HGNC:20636	protein_coding	YES	CCDS54313.1	ENSP00000439435	Q09FC8		UPI0000E04BC1	NM_001136038.2	deleterious(0.04)		4/4		hmmpanther:PTHR24377:SF145,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667											1,1						MODERATE	1	SNV	4		1,1	1										PASS		rs1213586457	.												T	3	4	77	53109401	53109401	G	T	1	0	0	0	0	1	0	0	0	18464	1000	35	2		2	ZNF415	19	53109401	Missense_Mutation	SNP	G	C3N-01414_TP	94068	53109401	5508215	512	25218											
LILRA5	0	.	GRCh38	chr19	54311999	54311999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgttcttgggctccagtgGgttctgtgtgtcccagggtt	2	16	14	9	0	2	0	0	0	2	0	4	0	4	0	2	3	0	4	2	3	0	5	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.274C>A	p.Pro92Thr	p.P92T	ENST00000432233	4/7	498	398	100	646	646	0	strelka-varscan-mutect	LILRA5,missense_variant,p.Pro92Thr,ENST00000432233,NM_021250.3;LILRA5,missense_variant,p.Pro80Thr,ENST00000486742,NM_181985.3;AC008984.2,intron_variant,,ENST00000616950,;LILRA5,non_coding_transcript_exon_variant,,ENST00000489504,;LILRA5,non_coding_transcript_exon_variant,,ENST00000446712,;LILRA5,upstream_gene_variant,,ENST00000477720,;	T	ENST00000432233	Transcript	missense_variant	394/1363	274/900	92/299	P/T	Cca/Aca		1		-1	LILRA5	HGNC	HGNC:16309	protein_coding	YES	CCDS12888.1	ENSP00000404236	A6NI73		UPI0000034C06	NM_021250.3	tolerated(0.15)		4/7		hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	54311999	54311999	G	T	1	0	0	0	0	1	0	0	0	8696	1232	43	2		2	LILRA5	19	54311999	Missense_Mutation	SNP	G	C3N-01414_TP	1202598	54311999	4305617	513	25219											
FAM71E2	0	.	GRCh38	chr19	55358901	55358901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctcacgccaggcaggtccGgggacctctcttcaagcttc	7	9	10	15	2	3	0	2	0	2	0	7	1	4	1	3	4	1	2	3	4	1	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1967C>A	p.Pro656Gln	p.P656Q	ENST00000424985	9/11	106	85	21	128	128	0	strelka-varscan-mutect	FAM71E2,missense_variant,p.Pro656Gln,ENST00000424985,NM_001145402.1;COX6B2,upstream_gene_variant,,ENST00000593184,;COX6B2,upstream_gene_variant,,ENST00000588572,;COX6B2,upstream_gene_variant,,ENST00000326529,NM_144613.4;COX6B2,upstream_gene_variant,,ENST00000590900,;COX6B2,upstream_gene_variant,,ENST00000589467,;CTD-2105E13.6,missense_variant,p.Pro206Gln,ENST00000591954,;FAM71E2,3_prime_UTR_variant,,ENST00000585734,;COX6B2,upstream_gene_variant,,ENST00000587854,;COX6B2,upstream_gene_variant,,ENST00000587357,;	T	ENST00000424985	Transcript	missense_variant	2161/3191	1967/2769	656/922	P/Q	cCg/cAg		1		-1	FAM71E2	HGNC	HGNC:25278	protein_coding	YES		ENSP00000398617	Q8N5Q1		UPI0001949ABA	NM_001145402.1	deleterious(0)		9/11		hmmpanther:PTHR22574:SF12,hmmpanther:PTHR22574																	MODERATE		SNV	5			1										PASS		rs1166784749	.												T	3	4	77	55358901	55358901	G	T	1	0	0	0	0	1	0	0	0	5476	1116	39	1		1	FAM71E2	19	55358901	Missense_Mutation	SNP	G	C3N-01414_TP	1046902	55358901	3258715	514	25220											
SSC5D	0	.	GRCh38	chr19	55499939	55499939	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccctctgcaagtgtgactgCcagtgttctggagaaaacaa	11	9	11	10	0	2	2	0	1	2	1	2	3	2	2	2	1	3	2	2	1	4	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1829C>G	p.Ala610Gly	p.A610G	ENST00000389623	10/14	422	354	68	575	575	0	strelka-varscan-mutect	SSC5D,missense_variant,p.Ala610Gly,ENST00000389623,NM_001144950.1;SSC5D,missense_variant,p.Ala610Gly,ENST00000587166,NM_001195267.1;SSC5D,missense_variant,p.Ala107Gly,ENST00000589020,;	G	ENST00000389623	Transcript	missense_variant	1852/4845	1829/4722	610/1573	A/G	gCc/gGc		1		1	SSC5D	HGNC	HGNC:26641	protein_coding	YES	CCDS46196.1	ENSP00000374274	A1L4H1		UPI000192952A	NM_001144950.1	tolerated(0.34)		10/14																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	77	55499939	55499939	C	G	1	0	0	0	0	1	0	0	0	15558	739	26	4		4	SSC5D	19	55499939	Missense_Mutation	SNP	C	C3N-01414_TP	141038	55499939	3117677	515	25221											
SBK3	0	.	GRCh38	chr19	55540959	55540959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcctcataggacacggCgctccccaaaaccccaggtc	9	6	8	18	2	1	0	1	0	0	0	4	1	3	1	6	3	1	1	6	3	3	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.967G>T	p.Ala323Ser	p.A323S	ENST00000612221	4/4	127	86	41	126	126	0	strelka-varscan-mutect	SBK3,missense_variant,p.Ala323Ser,ENST00000612221,NM_001199824.2;SBK2,upstream_gene_variant,,ENST00000413299,NM_001101401.2;SBK2,upstream_gene_variant,,ENST00000344158,;SBK3,downstream_gene_variant,,ENST00000592464,;	A	ENST00000612221	Transcript	missense_variant	967/1270	967/1080	323/359	A/S	Gcc/Tcc		1		-1	SBK3	HGNC	HGNC:44121	protein_coding	YES	CCDS74457.1	ENSP00000483467	P0C264		UPI00004FF064	NM_001199824.2	tolerated_low_confidence(0.75)		4/4		hmmpanther:PTHR24363,hmmpanther:PTHR24363:SF6																	MODERATE	1	SNV	5			1										PASS		rs1338883622	.												A	3	1	77	55540959	55540959	C	A	1	0	0	0	0	1	0	0	0	14126	768	27	1		1	SBK3	19	55540959	Missense_Mutation	SNP	C	C3N-01414_TP	41020	55540959	3076657	516	25222											
RFPL4A	0	.	GRCh38	chr19	55763015	55763015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttttacaatgttagtgatgGgtgccatatctacacattca	11	15	7	8	0	2	1	1	1	1	0	2	1	2	1	1	1	3	1	1	1	5	6	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.704G>T	p.Gly235Val	p.G235V	ENST00000434937	3/3	1394	1259	135	1967	1967	0	varscan-mutect	RFPL4A,missense_variant,p.Gly235Val,ENST00000434937,NM_001145014.1;	T	ENST00000434937	Transcript	missense_variant	875/1035	704/864	235/287	G/V	gGg/gTg		1		1	RFPL4A	HGNC	HGNC:16449	protein_coding	YES	CCDS46201.1	ENSP00000392936	A6NLU0		UPI0000D6181F	NM_001145014.1	deleterious(0)		3/3		PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF228,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	77	55763015	55763015	G	T	1	0	0	0	0	1	0	0	0	13428	1232	43	2		2	RFPL4A	19	55763015	Missense_Mutation	SNP	G	C3N-01414_TP	222056	55763015	2854601	517	25223											
RFPL4AL1	0	.	GRCh38	chr19	55773019	55773019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttttacaatgttagtgatgGgtgccatatcaacacattca	12	14	7	8	0	2	1	2	1	0	0	2	1	2	1	1	1	3	1	1	1	5	5	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.704G>T	p.Gly235Val	p.G235V	ENST00000341750	3/3	464	425	39	604	604	0	varscan-mutect	RFPL4AL1,missense_variant,p.Gly235Val,ENST00000341750,NM_001277397.1;RFPL4AP1,upstream_gene_variant,,ENST00000530883,;	T	ENST00000341750	Transcript	missense_variant	748/908	704/864	235/287	G/V	gGg/gTg		1		1	RFPL4AL1	HGNC	HGNC:45147	protein_coding	YES	CCDS59425.1	ENSP00000345151	F8VTS6		UPI000015FD78	NM_001277397.1	deleterious(0)		3/3		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF228,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	77	55773019	55773019	G	T	1	0	0	0	0	1	0	0	0	13429	1232	43	2		2	RFPL4AL1	19	55773019	Missense_Mutation	SNP	G	C3N-01414_TP	10004	55773019	2844597	518	25224											
NLRP13	0	.	GRCh38	chr19	55932164	55932164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggatacgcgggaagtgccCctggggggccgaccagaagt	8	4	19	10	3	0	1	0	0	0	1	0	4	0	3	4	6	2	0	4	6	3	1			C3N-01414_TP	C3N-01414_NB	C	C																c.148G>T	p.Gly50Trp	p.G50W	ENST00000342929	1/11	289	217	72	372	372	0	strelka-varscan-mutect	NLRP13,missense_variant,p.Gly50Trp,ENST00000588751,NM_001321057.1;NLRP13,missense_variant,p.Gly50Trp,ENST00000342929,NM_176810.2;	A	ENST00000342929	Transcript	missense_variant	148/3132	148/3132	50/1043	G/W	Ggg/Tgg	COSM5543183	1		-1	NLRP13	HGNC	HGNC:22937	protein_coding	YES	CCDS33119.1	ENSP00000343891	Q86W25		UPI00001AEEC8	NM_176810.2	deleterious(0.01)		1/11		Gene3D:1.10.533.10,Pfam_domain:PF02758,PROSITE_profiles:PS50824,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF10,SMART_domains:SM01289,Superfamily_domains:SSF47986											1						MODERATE	1	SNV	1		1	1										PASS		rs1310852384	.												A	3	1	77	55932164	55932164	C	A	1	0	0	0	0	1	0	0	0	10512	623	22	2		2	NLRP13	19	55932164	Missense_Mutation	SNP	C	C3N-01414_TP	159145	55932164	2685452	519	25225											
NLRP5	0	.	GRCh38	chr19	56027061	56027061	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgattcagaccggtggggCttccggcctcgcacggtggt	4	11	15	11	4	1	2	1	1	0	1	3	2	2	2	3	6	0	2	3	6	0	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.828C>A	p.=	p.G276G	ENST00000390649	7/15	272	219	53	365	365	0	strelka-varscan-mutect	NLRP5,synonymous_variant,p.=,ENST00000390649,NM_153447.4;NLRP5,synonymous_variant,p.=,ENST00000621651,;	A	ENST00000390649	Transcript	synonymous_variant	828/3888	828/3603	276/1200	G	ggC/ggA		1		1	NLRP5	HGNC	HGNC:21269	protein_coding	YES	CCDS12938.1	ENSP00000375063	P59047		UPI00001AEEBD	NM_153447.4			7/15		hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	56027061	56027061	C	A	1	0	0	0	0	0	0	0	1	10518	784	28	2		2	NLRP5	19	56027061	Silent	SNP	C	C3N-01414_TP	94897	56027061	2590555	520	25226											
ZNF667	0	.	GRCh38	chr19	56442324	56442324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagtcaagaatttcctttCcatcatgaattctcatatgt	12	15	4	10	0	3	2	3	1	1	1	6	2	5	2	2	0	0	0	2	0	4	4	rs748880533		C3N-01414_TP	C3N-01414_NB	C	C																c.671G>T	p.Gly224Val	p.G224V	ENST00000504904	7/7	109	87	22	152	152	0	strelka-varscan-mutect	ZNF667,missense_variant,p.Gly224Val,ENST00000504904,NM_001321356.1;ZNF667,missense_variant,p.Gly224Val,ENST00000292069,NM_022103.3;ZNF667,missense_variant,p.Gly6Val,ENST00000629654,;ZNF667,3_prime_UTR_variant,,ENST00000591790,;ZNF667,downstream_gene_variant,,ENST00000587555,;ZNF667,3_prime_UTR_variant,,ENST00000592189,NM_001321355.1;	A	ENST00000504904	Transcript	missense_variant	1391/4390	671/1833	224/610	G/V	gGa/gTa	rs748880533	1		-1	ZNF667	HGNC	HGNC:28854	protein_coding	YES	CCDS12944.1	ENSP00000439402	Q5HYK9		UPI0000202CEE	NM_001321356.1	deleterious(0)		7/7		PROSITE_profiles:PS50157,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF46,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		rs748880533	.												A	3	1	77	56442324	56442324	C	A	1	0	0	0	0	1	0	0	0	18648	855	30	2		2	ZNF667	19	56442324	Missense_Mutation	SNP	C	C3N-01414_TP	415263	56442324	2175292	521	25227											
PEG3	0	.	GRCh38	chr19	56814119	56814119	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttggctgctcggcctcTccatttggctgtccagcctc	3	13	9	16	1	1	0	0	0	1	0	5	0	2	0	5	3	2	3	5	3	0	2	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.4323A>T	p.=	p.G1441G	ENST00000326441	10/10	368	294	74	496	496	0	strelka-varscan-mutect	PEG3,synonymous_variant,p.=,ENST00000326441,NM_001146186.1,NM_001146184.1,NM_006210.2;PEG3,synonymous_variant,p.=,ENST00000598410,NM_001146187.1;PEG3,synonymous_variant,p.=,ENST00000599534,;PEG3,synonymous_variant,p.=,ENST00000599577,;PEG3,synonymous_variant,p.=,ENST00000593695,NM_001146185.1;ZIM2,intron_variant,,ENST00000629319,NM_001146326.1,NM_001146327.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000593711,NM_015363.4;ZIM2,intron_variant,,ENST00000601070,;PEG3,downstream_gene_variant,,ENST00000600833,;PEG3,upstream_gene_variant,,ENST00000599565,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	A	ENST00000326441	Transcript	synonymous_variant	4687/8723	4323/4767	1441/1588	G	ggA/ggT		1		-1	PEG3	HGNC	HGNC:8826	protein_coding	YES	CCDS12948.1	ENSP00000326581	Q9GZU2		UPI000006D36D	NM_001146186.1,NM_001146184.1,NM_006210.2			10/10																			LOW	1	SNV	1			1										PASS		rs1202053429	.												A	2	1	77	56814119	56814119	T	A	1	0	0	0	0	0	0	0	1	11808	1538	54	4		4	PEG3	19	56814119	Silent	SNP	T	C3N-01414_TP	371795	56814119	1803497	522	25228											
ZNF264	0	.	GRCh38	chr19	57194002	57194002	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggctcctggtgtctctggGtaaggccttccttccccctc	2	13	11	15	0	1	0	0	0	1	0	6	0	4	0	5	4	0	2	5	4	1	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.160+1G>T		p.X54_splice	ENST00000263095		68	46	22	103	103	0	strelka-varscan-mutect	ZNF264,splice_donor_variant,,ENST00000263095,NM_003417.4;ZNF264,splice_donor_variant,,ENST00000536056,;ZNF264,splice_donor_variant,,ENST00000600531,;ZNF264,splice_donor_variant,,ENST00000597447,;ZNF264,missense_variant,p.Gly54Val,ENST00000599653,;ZNF264,downstream_gene_variant,,ENST00000594126,;	T	ENST00000263095	Transcript	splice_donor_variant	-/12163	160/1884	54/627				1		1	ZNF264	HGNC	HGNC:13057	protein_coding	YES	CCDS33127.1	ENSP00000263095	O43296		UPI000013C33B	NM_003417.4				2/3																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	77	57194002	57194002	G	T	1	0	0	0	0	0	0	1	0	18380	1275	44	2		2	ZNF264	19	57194002	Splice_Site	SNP	G	C3N-01414_TP	379883	57194002	1423614	523	25229											
ZIK1	0	.	GRCh38	chr19	57590853	57590853	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaagagttcacactggaGaaaggccttataagtgtggt	14	9	11	7	0	1	2	1	0	0	2	1	3	1	2	2	3	0	1	2	3	4	3			C3N-01414_TP	C3N-01414_NB	G	G																c.1042G>T	p.Glu348Ter	p.E348*	ENST00000597850	4/4	219	195	24	347	347	0	strelka-varscan-mutect	ZIK1,stop_gained,p.Glu348Ter,ENST00000597850,NM_001010879.2;ZIK1,stop_gained,p.Glu335Ter,ENST00000536878,NM_001321145.1;ZIK1,stop_gained,p.Glu293Ter,ENST00000599456,;ZIK1,3_prime_UTR_variant,,ENST00000307468,;ZIK1,downstream_gene_variant,,ENST00000600053,;ZIK1,downstream_gene_variant,,ENST00000597219,;ZIK1,downstream_gene_variant,,ENST00000598689,;ZIK1,downstream_gene_variant,,ENST00000598726,;	T	ENST00000597850	Transcript	stop_gained	1257/4181	1042/1464	348/487	E/*	Gaa/Taa	COSM327551	1		1	ZIK1	HGNC	HGNC:33104	protein_coding	YES	CCDS33135.1	ENSP00000472867	Q3SY52		UPI00001609B2	NM_001010879.2			4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF219,Superfamily_domains:SSF57667											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	77	57590853	57590853	G	T	1	0	0	0	0	0	1	0	0	18261	943	33	2		2	ZIK1	19	57590853	Nonsense_Mutation	SNP	G	C3N-01414_TP	396851	57590853	1026763	524	25230											
ZSCAN4	0	.	GRCh38	chr19	57676481	57676481	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaatggaaatcaagtggCaaaaacttggagagattcat	18	8	11	4	0	2	2	2	0	0	2	2	6	2	4	0	3	1	1	0	3	5	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.336C>A	p.=	p.G112G	ENST00000318203	3/5	118	91	27	189	188	1	strelka-varscan-mutect	ZSCAN4,synonymous_variant,p.=,ENST00000318203,NM_152677.2;ZSCAN4,synonymous_variant,p.=,ENST00000612521,;	A	ENST00000318203	Transcript	synonymous_variant	1033/2246	336/1302	112/433	G	ggC/ggA		1		1	ZSCAN4	HGNC	HGNC:23709	protein_coding	YES	CCDS12958.1	ENSP00000321963	Q8NAM6		UPI000006E923	NM_152677.2			3/5		Pfam_domain:PF02023,PROSITE_profiles:PS50804,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF45,SMART_domains:SM00431,Superfamily_domains:SSF47353																	LOW	1	SNV	2			1										PASS		rs1435378174	.												A	2	1	77	57676481	57676481	C	A	1	0	0	0	0	0	0	0	1	18836	697	25	2		2	ZSCAN4	19	57676481	Silent	SNP	C	C3N-01414_TP	85628	57676481	941135	525	25231											
ZNF587B	0	.	GRCh38	chr19	57839084	57839084	+	Missense_Mutation	SNP	G	G	T																															ggaggaatggaatctccttaGtgaggctcagagatgcctgt																								rs535519327		C3N-01414_TP	C3N-01414_NB	G	G																c.98G>T	p.Ser33Ile	p.S33I	ENST00000442832	2/4	161	138	23	212	211	1	strelka-varscan-mutect	ZNF587B,missense_variant,p.Ser33Ile,ENST00000442832,NM_001204818.1;ZNF587B,missense_variant,p.Ser33Ile,ENST00000594901,;ZNF587B,5_prime_UTR_variant,,ENST00000594328,;CTD-2583A14.10,5_prime_UTR_variant,,ENST00000597134,;CTD-2583A14.10,intron_variant,,ENST00000596498,;CTD-2583A14.10,intron_variant,,ENST00000598031,;CTD-2583A14.10,intron_variant,,ENST00000603271,;CTD-2583A14.10,intron_variant,,ENST00000593873,;CTD-2583A14.10,missense_variant,p.Ser33Ile,ENST00000604231,;	T	ENST00000442832	Transcript	missense_variant	332/3339	98/1209	33/402	S/I	aGt/aTt	rs535519327	1		1	ZNF587B	HGNC	HGNC:37142	protein_coding	YES	CCDS56109.1	ENSP00000392410	E7ETH6		UPI0001AE657B	NM_001204818.1	deleterious(0)		2/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF191,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637																	MODERATE	1	SNV	2			1										PASS		rs535519327	.												T	3	4	77	57839084	57839084	G	T	1	0	0	0	0	1	0	0	0	18595	1029	36	2		2	ZNF587B	19	57839084	Missense_Mutation	SNP	G	C3N-01414_TP	162603	57839084	778532	526	25232	530	2									
ZNF587B	0	.	GRCh38	chr19	57839086	57839086	+	Nonsense_Mutation	SNP	G	G	T																															aggaatggaatctccttagtGaggctcagagatgcctgtac																								novel		C3N-01414_TP	C3N-01414_NB	G	G																c.100G>T	p.Glu34Ter	p.E34*	ENST00000442832	2/4	163	140	23	216	216	0	strelka-varscan-mutect	ZNF587B,stop_gained,p.Glu34Ter,ENST00000442832,NM_001204818.1;ZNF587B,stop_gained,p.Glu34Ter,ENST00000594901,;ZNF587B,5_prime_UTR_variant,,ENST00000594328,;CTD-2583A14.10,5_prime_UTR_variant,,ENST00000597134,;CTD-2583A14.10,intron_variant,,ENST00000596498,;CTD-2583A14.10,intron_variant,,ENST00000598031,;CTD-2583A14.10,intron_variant,,ENST00000603271,;CTD-2583A14.10,intron_variant,,ENST00000593873,;CTD-2583A14.10,stop_gained,p.Glu34Ter,ENST00000604231,;	T	ENST00000442832	Transcript	stop_gained	334/3339	100/1209	34/402	E/*	Gag/Tag		1		1	ZNF587B	HGNC	HGNC:37142	protein_coding	YES	CCDS56109.1	ENSP00000392410	E7ETH6		UPI0001AE657B	NM_001204818.1			2/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF191,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	77	57839086	57839086	G	T	1	0	0	0	0	0	1	0	0	18595	1291	45	2		2	ZNF587B	19	57839086	Nonsense_Mutation	SNP	G	C3N-01414_TP	2	57839086	778530	527	25233	530	2									
ZNF418	0	.	GRCh38	chr19	57927690	57927690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaaaaagtcctttccaCtctgaatgaagatagatgac	14	10	9	8	0	1	5	0	3	1	2	3	5	3	5	2	1	0	1	2	1	5	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.491G>T	p.Ser164Ile	p.S164I	ENST00000396147	4/6	146	120	26	222	222	0	strelka-varscan-mutect	ZNF418,missense_variant,p.Ser164Ile,ENST00000396147,NM_001317028.1,NM_133460.1;ZNF418,missense_variant,p.Ser185Ile,ENST00000425570,;ZNF418,missense_variant,p.Ser164Ile,ENST00000595830,NM_001317029.1,NM_001317030.1;ZNF418,missense_variant,p.Ser79Ile,ENST00000599852,;ZNF418,missense_variant,p.Ser164Ile,ENST00000616958,;ZNF418,intron_variant,,ENST00000600989,;ZNF418,downstream_gene_variant,,ENST00000595569,;ZNF418,downstream_gene_variant,,ENST00000593296,;ZNF418,downstream_gene_variant,,ENST00000601593,;ZNF418,intron_variant,,ENST00000598213,;ZNF418,upstream_gene_variant,,ENST00000599086,;	A	ENST00000396147	Transcript	missense_variant	783/3694	491/2031	164/676	S/I	aGt/aTt		1		-1	ZNF418	HGNC	HGNC:20647	protein_coding	YES	CCDS42642.1	ENSP00000379451	Q8TF45		UPI000013B4C8	NM_001317028.1,NM_133460.1	tolerated(0.31)		4/6		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF192																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	57927690	57927690	C	A	1	0	0	0	0	1	0	0	0	18467	565	20	2		2	ZNF418	19	57927690	Missense_Mutation	SNP	C	C3N-01414_TP	88604	57927690	689926	528	25234											
PRND	0	.	GRCh38	chr20	4725017	4725017	+	Silent	SNP	C	C	A																															tggagaggggcgcaggacttCgggtcaccatgcaccagcca																								rs768662304		C3N-01414_TP	C3N-01414_NB	C	C																c.466C>A	p.=	p.R156R	ENST00000305817	2/2	178	101	77	174	174	0	strelka-varscan-mutect	PRND,synonymous_variant,p.=,ENST00000305817,NM_012409.3;	A	ENST00000305817	Transcript	synonymous_variant	537/3980	466/531	156/176	R	Cgg/Agg	rs768662304,COSM3295182	1		1	PRND	HGNC	HGNC:15748	protein_coding	YES	CCDS13081.1	ENSP00000306900	Q9UKY0		UPI000003E880	NM_012409.3			2/2		Pfam_domain:PF00377,hmmpanther:PTHR15506,hmmpanther:PTHR15506:SF0,Transmembrane_helices:TMhelix											0,1						LOW	1	SNV	1		0,1	1										PASS		rs768662304	.												A	2	1	77	4725017	4725017	C	A	1	0	0	0	0	0	0	0	1	12675	875	31	1		1	PRND	20	4725017	Silent	SNP	C	C3N-01414_TP		4725017	59719150	529	25235	531	2									
PRND	0	.	GRCh38	chr20	4725018	4725018	+	Missense_Mutation	SNP	G	G	T																															ggagaggggcgcaggacttcGggtcaccatgcaccagccag																								rs773175272		C3N-01414_TP	C3N-01414_NB	G	G																c.467G>T	p.Arg156Leu	p.R156L	ENST00000305817	2/2	171	94	77	170	169	1	strelka-varscan-mutect	PRND,missense_variant,p.Arg156Leu,ENST00000305817,NM_012409.3;	T	ENST00000305817	Transcript	missense_variant	538/3980	467/531	156/176	R/L	cGg/cTg	rs773175272,COSM4099123	1		1	PRND	HGNC	HGNC:15748	protein_coding	YES	CCDS13081.1	ENSP00000306900	Q9UKY0		UPI000003E880	NM_012409.3	deleterious_low_confidence(0.01)		2/2		Pfam_domain:PF00377,hmmpanther:PTHR15506,hmmpanther:PTHR15506:SF0,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs773175272	.												T	3	4	77	4725018	4725018	G	T	1	0	0	0	0	1	0	0	0	12675	1116	39	1		1	PRND	20	4725018	Missense_Mutation	SNP	G	C3N-01414_TP	1	4725018	59719149	530	25236	531	2									
TRMT6	0	.	GRCh38	chr20	5941242	5941242	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccattccattccagtattaCctctttgtactgacagtaga	10	14	5	12	0	1	2	0	1	1	1	3	2	3	2	4	0	2	3	4	0	4	7	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1215+1G>A		p.X405_splice	ENST00000203001		193	133	60	148	148	0	strelka-varscan-mutect	TRMT6,splice_donor_variant,,ENST00000203001,NM_015939.4;TRMT6,splice_donor_variant,,ENST00000453074,NM_001281467.1;TRMT6,splice_donor_variant,,ENST00000473131,;TRMT6,non_coding_transcript_exon_variant,,ENST00000466974,;TRMT6,downstream_gene_variant,,ENST00000493972,;	T	ENST00000203001	Transcript	splice_donor_variant	-/2327	1215/1494	405/497				1		-1	TRMT6	HGNC	HGNC:20900	protein_coding	YES	CCDS13093.1	ENSP00000203001	Q9UJA5		UPI000006D9E4	NM_015939.4				9/10																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	77	5941242	5941242	C	T	1	0	0	0	0	0	0	1	0	17073	521	18	3		3	TRMT6	20	5941242	Splice_Site	SNP	C	C3N-01414_TP	1216224	5941242	58502925	531	25237											
POLR3F	0	.	GRCh38	chr20	18475126	18475126	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttgccattaacagaaaTcaacaaaattctgaagaatc	19	11	4	7	0	2	3	1	1	1	2	3	3	2	3	1	0	3	0	1	0	8	4	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.368T>C	p.Ile123Thr	p.I123T	ENST00000377603	5/9	200	141	59	249	249	0	strelka-varscan-mutect	POLR3F,missense_variant,p.Ile123Thr,ENST00000377603,NM_006466.3,NM_001282526.1;MIR3192,downstream_gene_variant,,ENST00000584920,;POLR3F,non_coding_transcript_exon_variant,,ENST00000462997,;POLR3F,non_coding_transcript_exon_variant,,ENST00000489753,;POLR3F,intron_variant,,ENST00000497333,;POLR3F,downstream_gene_variant,,ENST00000475192,;	C	ENST00000377603	Transcript	missense_variant	748/2416	368/951	123/316	I/T	aTc/aCc		1		1	POLR3F	HGNC	HGNC:15763	protein_coding	YES	CCDS13135.1	ENSP00000366828	Q9H1D9		UPI0000134605	NM_006466.3,NM_001282526.1	deleterious(0)		5/9		Gene3D:1.10.10.10,Pfam_domain:PF05158,PIRSF_domain:PIRSF028763,hmmpanther:PTHR12780,hmmpanther:PTHR12780:SF1,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	18475126	18475126	T	C	1	0	0	0	0	1	0	0	0	12344	1435	50	5		5	POLR3F	20	18475126	Missense_Mutation	SNP	T	C3N-01414_TP	12533884	18475126	45969041	532	25238											
DLGAP4	0	.	GRCh38	chr20	36431769	36431769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctctccgacagcctagacCcaccccacgagcccctgttt	8	7	6	20	2	1	1	0	0	1	1	2	3	1	1	8	0	2	1	8	0	1	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.52C>A	p.Pro18Thr	p.P18T	ENST00000373913	3/13	186	117	69	152	152	0	strelka-varscan-mutect	DLGAP4,missense_variant,p.Pro18Thr,ENST00000373913,NM_014902.5;DLGAP4,missense_variant,p.Pro18Thr,ENST00000339266,;DLGAP4,missense_variant,p.Pro18Thr,ENST00000401952,;DLGAP4,missense_variant,p.Pro18Thr,ENST00000373907,;	A	ENST00000373913	Transcript	missense_variant	532/5056	52/2970	18/989	P/T	Cca/Aca		1		1	DLGAP4	HGNC	HGNC:24476	protein_coding	YES	CCDS13274.1	ENSP00000363023	Q9Y2H0		UPI000013D34B	NM_014902.5	deleterious(0.03)		3/13		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	36431769	36431769	C	A	1	0	0	0	0	1	0	0	0	4369	623	22	2		2	DLGAP4	20	36431769	Missense_Mutation	SNP	C	C3N-01414_TP	17956643	36431769	28012398	533	25239											
HNF4A	0	.	GRCh38	chr20	44428453	44428453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcacctcagcaacggacaGatgtgtgagtggccccgacc	10	6	11	14	2	2	2	2	1	0	1	2	4	2	3	4	2	2	1	4	2	1	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1248G>A	p.=	p.Q416Q	ENST00000316099	9/10	552	276	276	732	732	0	strelka-varscan-mutect	HNF4A,synonymous_variant,p.=,ENST00000316099,NM_001258355.1,NM_000457.4;HNF4A,synonymous_variant,p.=,ENST00000619550,NM_001287182.1,NM_001287183.1;HNF4A,synonymous_variant,p.=,ENST00000415691,NM_178849.2;HNF4A,synonymous_variant,p.=,ENST00000316673,NM_175914.4;HNF4A,synonymous_variant,p.=,ENST00000457232,NM_001030003.2;HNF4A,downstream_gene_variant,,ENST00000443598,NM_178850.2;HNF4A,downstream_gene_variant,,ENST00000609795,NM_001030004.2,NM_001287184.1;HNF4A,3_prime_UTR_variant,,ENST00000372920,;	A	ENST00000316099	Transcript	synonymous_variant	1337/6445	1248/1425	416/474	Q	caG/caA		1		1	HNF4A	HGNC	HGNC:5024	protein_coding	YES	CCDS13330.1	ENSP00000312987	P41235	F1D8T1	UPI000016A0BA	NM_001258355.1,NM_000457.4			9/10																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	44428453	44428453	G	A	1	0	0	0	0	0	0	0	1	7144	956	33	3		3	HNF4A	20	44428453	Silent	SNP	G	C3N-01414_TP	7996684	44428453	20015714	534	25240											
BMP7	0	.	GRCh38	chr20	57171064	57171064	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcattgagctgcgtgggCgcacagcagggcttgggcac	7	7	17	10	2	0	1	0	1	0	0	0	1	0	1	0	4	3	6	0	4	0	2	rs200826465		C3N-01414_TP	C3N-01414_NB	C	C																c.1191G>C	p.=	p.A397A	ENST00000395863	7/7	595	478	117	773	773	0	strelka-varscan-mutect	BMP7,synonymous_variant,p.=,ENST00000395863,NM_001719.2;BMP7,synonymous_variant,p.=,ENST00000395864,;BMP7,downstream_gene_variant,,ENST00000450594,;BMP7,downstream_gene_variant,,ENST00000433911,;BMP7,non_coding_transcript_exon_variant,,ENST00000460817,;BMP7,non_coding_transcript_exon_variant,,ENST00000476877,;	G	ENST00000395863	Transcript	synonymous_variant	1697/4013	1191/1296	397/431	A	gcG/gcC	rs200826465	1		-1	BMP7	HGNC	HGNC:1074	protein_coding	YES	CCDS13455.1	ENSP00000379204	P18075	A8K571	UPI00000349AD	NM_001719.2			7/7		Gene3D:2.10.90.10,Pfam_domain:PF00019,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135,SMART_domains:SM00204,Superfamily_domains:SSF57501																	LOW	1	SNV	1			1										PASS		rs200826465	.												G	2	3	77	57171064	57171064	C	G	1	0	0	0	0	0	0	0	1	1620	755	27	4		4	BMP7	20	57171064	Silent	SNP	C	C3N-01414_TP	12742611	57171064	7273103	535	25241											
DIDO1	0	.	GRCh38	chr20	62911136	62911136	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaagctctttcaaggtCaggccatcgctgtcactatc	8	13	8	12	1	5	1	3	1	2	0	7	1	5	1	1	2	1	2	1	2	3	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.477G>T	p.=	p.L159L	ENST00000266070	3/16	581	451	130	540	540	0	strelka-varscan-mutect	DIDO1,synonymous_variant,p.=,ENST00000266070,NM_033081.2;DIDO1,synonymous_variant,p.=,ENST00000395343,NM_001193369.1;DIDO1,synonymous_variant,p.=,ENST00000395340,NM_080797.3,NM_001193370.1;DIDO1,synonymous_variant,p.=,ENST00000370371,NM_022105.4;DIDO1,synonymous_variant,p.=,ENST00000354665,NM_080796.3;DIDO1,synonymous_variant,p.=,ENST00000370368,;DIDO1,synonymous_variant,p.=,ENST00000370366,;	A	ENST00000266070	Transcript	synonymous_variant	833/8574	477/6723	159/2240	L	ctG/ctT		1		-1	DIDO1	HGNC	HGNC:2680	protein_coding	YES	CCDS33506.1	ENSP00000266070	Q9BTC0		UPI0000206380	NM_033081.2			3/16		hmmpanther:PTHR11477,hmmpanther:PTHR11477:SF13																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	77	62911136	62911136	C	A	1	0	0	0	0	0	0	0	1	4326	813	29	2		2	DIDO1	20	62911136	Silent	SNP	C	C3N-01414_TP	5740072	62911136	1533031	536	25242											
KCNQ2	0	.	GRCh38	chr20	63424203	63424203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggctccggcggggggtcCttccttcaaacagaagcaac	9	6	13	13	3	1	1	1	0	0	1	4	2	4	1	3	5	3	2	3	5	3	2	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1221G>T	p.Lys407Asn	p.K407N	ENST00000359125	11/17	428	234	194	301	301	0	strelka-varscan-mutect	KCNQ2,missense_variant,p.Lys407Asn,ENST00000626839,NM_172106.1;KCNQ2,missense_variant,p.Lys407Asn,ENST00000359125,NM_172107.2;KCNQ2,missense_variant,p.Lys397Asn,ENST00000370224,;KCNQ2,missense_variant,p.Lys224Asn,ENST00000637193,;KCNQ2,missense_variant,p.Lys397Asn,ENST00000625514,;KCNQ2,missense_variant,p.Lys397Asn,ENST00000629241,;KCNQ2,missense_variant,p.Lys397Asn,ENST00000360480,NM_004518.4;KCNQ2,missense_variant,p.Lys407Asn,ENST00000344462,NM_172108.3;KCNQ2,missense_variant,p.Lys293Asn,ENST00000357249,;KCNQ2,missense_variant,p.Lys397Asn,ENST00000629676,;KCNQ2,missense_variant,p.Lys112Asn,ENST00000627221,;RP11-358D14.3,intron_variant,,ENST00000629794,;KCNQ2,non_coding_transcript_exon_variant,,ENST00000637632,;KCNQ2,upstream_gene_variant,,ENST00000635867,;KCNQ2,downstream_gene_variant,,ENST00000636638,;KCNQ2,upstream_gene_variant,,ENST00000637584,;KCNQ2,non_coding_transcript_exon_variant,,ENST00000370221,;	A	ENST00000359125	Transcript	missense_variant	1348/3253	1221/2619	407/872	K/N	aaG/aaT		1		-1	KCNQ2	HGNC	HGNC:6296	protein_coding	YES	CCDS13520.1	ENSP00000352035	O43526		UPI00001279ED	NM_172107.2	deleterious(0.04)		11/17		hmmpanther:PTHR11537:SF6,hmmpanther:PTHR11537																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	63424203	63424203	C	A	1	0	0	0	0	1	0	0	0	7999	695	24	2		2	KCNQ2	20	63424203	Missense_Mutation	SNP	C	C3N-01414_TP	513067	63424203	1019964	537	25243											
GABPA	0	.	GRCh38	chr21	25764711	25764711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttaagctaaatcagcctGaactggttgcacagaaatgg	15	10	9	7	0	1	2	1	1	0	1	1	2	1	2	1	2	4	3	1	2	6	4	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1060G>C	p.Glu354Gln	p.E354Q	ENST00000354828	9/10	213	176	37	302	302	0	strelka-varscan-mutect	GABPA,missense_variant,p.Glu354Gln,ENST00000354828,NM_001197297.1;GABPA,missense_variant,p.Glu354Gln,ENST00000400075,NM_002040.3;LLPHP2,upstream_gene_variant,,ENST00000436405,;	C	ENST00000354828	Transcript	missense_variant	1587/5120	1060/1365	354/454	E/Q	Gaa/Caa		1		1	GABPA	HGNC	HGNC:4071	protein_coding	YES	CCDS13575.1	ENSP00000346886	Q06546	A8IE48	UPI000012AFB2	NM_001197297.1	deleterious(0.01)		9/10		Gene3D:1.10.10.10,Pfam_domain:PF00178,PIRSF_domain:PIRSF001703,Prints_domain:PR00454,PROSITE_profiles:PS50061,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF195,SMART_domains:SM00413,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	25764711	25764711	G	C	1	0	0	0	0	1	0	0	0	6028	1291	45	4		4	GABPA	21	25764711	Missense_Mutation	SNP	G	C3N-01414_TP		25764711	20945272	538	25244											
ADAMTS5	0	.	GRCh38	chr21	26924083	26924083	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacaagcattgcttaaaCgcagaaggcctttgggagag	13	9	11	8	1	1	2	1	0	0	2	1	3	1	2	1	2	4	3	1	2	5	4	rs146590255		C3N-01414_TP	C3N-01414_NB	C	C																c.2763G>A	p.=	p.A921A	ENST00000284987	8/8	52	40	12	66	66	0	strelka-varscan-mutect	ADAMTS5,synonymous_variant,p.=,ENST00000284987,NM_007038.3;AP001601.2,intron_variant,,ENST00000426771,;	T	ENST00000284987	Transcript	synonymous_variant	2885/9056	2763/2793	921/930	A	gcG/gcA	rs146590255	1		-1	ADAMTS5	HGNC	HGNC:221	protein_coding	YES	CCDS13579.1	ENSP00000284987	Q9UNA0		UPI00001AEAC2	NM_007038.3			8/8		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF37,SMART_domains:SM00209,Superfamily_domains:SSF82895																	LOW	1	SNV	1			1										PASS		rs146590255	.												T	2	4	77	26924083	26924083	C	T	1	0	0	0	0	0	0	0	1	313	523	19	1		1	ADAMTS5	21	26924083	Silent	SNP	C	C3N-01414_TP	1159372	26924083	19785900	539	25245											
LTN1	0	.	GRCh38	chr21	28992915	28992915	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctgtaataacttcccccgGgcccttttccgccacccacc	6	9	5	21	2	0	0	0	0	0	0	2	0	2	0	8	1	1	1	8	1	2	5	rs770980232		C3N-01414_TP	C3N-01414_NB	G	G																c.29C>A	p.Pro10His	p.P10H	ENST00000614971	1/30	101	73	28	149	149	0	strelka-varscan-mutect	LTN1,missense_variant,p.Pro10His,ENST00000614971,NM_015565.2;LTN1,missense_variant,p.Pro10His,ENST00000389194,;LTN1,missense_variant,p.Pro10His,ENST00000389195,;LTN1,upstream_gene_variant,,ENST00000361371,;RPL23P2,downstream_gene_variant,,ENST00000320371,;	T	ENST00000614971	Transcript	missense_variant	42/7756	29/5439	10/1812	P/H	cCc/cAc	rs770980232	1		-1	LTN1	HGNC	HGNC:13082	protein_coding	YES	CCDS33527.2	ENSP00000478783	O94822		UPI000049DF6C	NM_015565.2	deleterious_low_confidence(0)		1/30		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs770980232	.												T	3	4	77	28992915	28992915	G	T	1	0	0	0	0	1	0	0	0	8987	1232	43	2		2	LTN1	21	28992915	Missense_Mutation	SNP	G	C3N-01414_TP	2068832	28992915	17717068	540	25246											
USP16	0	.	GRCh38	chr21	29040669	29040669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaaagttggatgaagaaCtaaaaaataaagttaaaggt	21	9	9	2	0	0	3	0	2	0	1	0	4	0	4	0	2	1	2	0	2	11	4	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1012C>A	p.Leu338Ile	p.L338I	ENST00000334352	11/19	40	36	4	114	114	0	varscan-mutect	USP16,missense_variant,p.Leu338Ile,ENST00000334352,NM_001032410.1;USP16,missense_variant,p.Leu338Ile,ENST00000399976,NM_006447.2;USP16,missense_variant,p.Leu337Ile,ENST00000399975,NM_001001992.1;USP16,non_coding_transcript_exon_variant,,ENST00000474835,;	A	ENST00000334352	Transcript	missense_variant	1243/3004	1012/2472	338/823	L/I	Cta/Ata		1		1	USP16	HGNC	HGNC:12614	protein_coding	YES	CCDS13583.1	ENSP00000334808	Q9Y5T5		UPI00001379FA	NM_001032410.1	tolerated(0.17)		11/19		PROSITE_profiles:PS50235,HAMAP:MF_03062,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	MODERATE	1	SNV	5			1										PASS		rs1188724092	.												A	3	1	77	29040669	29040669	C	A	1	0	0	0	0	1	0	0	0	17581	564	20	2		2	USP16	21	29040669	Missense_Mutation	SNP	C	C3N-01414_TP	47754	29040669	17669314	541	25247											
URB1	0	.	GRCh38	chr21	32383442	32383442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttgaatccctcttggtcaCcagggtgtacagggtctttt	6	15	10	10	0	3	1	1	1	2	0	4	1	4	1	2	3	1	1	2	3	2	5	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.547G>T	p.Val183Leu	p.V183L	ENST00000382751	4/39	93	81	12	159	159	0	strelka-varscan-mutect	URB1,missense_variant,p.Val183Leu,ENST00000382751,NM_014825.2;	A	ENST00000382751	Transcript	missense_variant	663/10832	547/6816	183/2271	V/L	Gtg/Ttg		1		-1	URB1	HGNC	HGNC:17344	protein_coding	YES	CCDS46645.1	ENSP00000372199	O60287		UPI0000185F65	NM_014825.2	tolerated(0.36)		4/39		hmmpanther:PTHR13500,Pfam_domain:PF11707																	MODERATE	1	SNV	1			1										PASS		rs1264629474	.												A	3	1	77	32383442	32383442	C	A	1	0	0	0	0	1	0	0	0	17554	507	18	2		2	URB1	21	32383442	Missense_Mutation	SNP	C	C3N-01414_TP	3342773	32383442	14326541	542	25248											
SON	0	.	GRCh38	chr21	33550915	33550915	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgacagcgctggagttgccgGggcagccttcggtgactggg	5	7	18	11	4	0	1	0	1	0	0	1	3	0	2	2	5	3	3	2	5	0	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1684G>T	p.Gly562Trp	p.G562W	ENST00000356577	3/12	64	46	18	116	116	0	strelka-varscan-mutect	SON,missense_variant,p.Gly562Trp,ENST00000356577,NM_138927.2;SON,missense_variant,p.Gly562Trp,ENST00000381679,NM_001291411.1;SON,missense_variant,p.Gly562Trp,ENST00000300278,NM_032195.2;SON,intron_variant,,ENST00000381692,NM_001291412.1;SON,upstream_gene_variant,,ENST00000436227,;SON,upstream_gene_variant,,ENST00000421541,;SON,downstream_gene_variant,,ENST00000290239,;SON,downstream_gene_variant,,ENST00000492229,;SON,missense_variant,p.Gly562Trp,ENST00000455528,;SON,downstream_gene_variant,,ENST00000475072,;	T	ENST00000356577	Transcript	missense_variant	2159/8813	1684/7281	562/2426	G/W	Ggg/Tgg		1		1	SON	HGNC	HGNC:11183	protein_coding	YES	CCDS13629.1	ENSP00000348984	P18583		UPI0000140BFD	NM_138927.2	deleterious_low_confidence(0)		3/12																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	33550915	33550915	G	T	1	0	0	0	0	1	0	0	0	15248	1232	43	2		2	SON	21	33550915	Missense_Mutation	SNP	G	C3N-01414_TP	1167473	33550915	13159068	543	25249											
AGPAT3	0	.	GRCh38	chr21	43969193	43969193	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtactttctggagattGtgttctgcaagcggaagtgg	7	13	15	6	2	2	1	0	0	2	1	2	3	2	2	0	4	3	3	0	4	3	4	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.424G>C	p.Val142Leu	p.V142L	ENST00000398063	4/9	207	163	44	340	340	0	strelka-varscan-mutect	AGPAT3,missense_variant,p.Val142Leu,ENST00000398063,NM_001037553.1;AGPAT3,missense_variant,p.Val142Leu,ENST00000291572,NM_020132.4;AGPAT3,missense_variant,p.Val142Leu,ENST00000398058,;AGPAT3,missense_variant,p.Val142Leu,ENST00000398061,;AGPAT3,missense_variant,p.Val142Leu,ENST00000327505,;AGPAT3,missense_variant,p.Val142Leu,ENST00000546158,;AGPAT3,missense_variant,p.Val142Leu,ENST00000422850,;AGPAT3,missense_variant,p.Val142Leu,ENST00000457068,;AGPAT3,downstream_gene_variant,,ENST00000445582,;AGPAT3,downstream_gene_variant,,ENST00000448287,;AGPAT3,non_coding_transcript_exon_variant,,ENST00000479117,;AGPAT3,non_coding_transcript_exon_variant,,ENST00000481319,;AGPAT3,non_coding_transcript_exon_variant,,ENST00000467358,;AGPAT3,upstream_gene_variant,,ENST00000484865,;	C	ENST00000398063	Transcript	missense_variant	916/5767	424/1131	142/376	V/L	Gtg/Ctg		1		1	AGPAT3	HGNC	HGNC:326	protein_coding	YES	CCDS13703.1	ENSP00000381140	Q9NRZ7		UPI000004616E	NM_001037553.1	deleterious(0.04)		4/9		hmmpanther:PTHR10983:SF9,hmmpanther:PTHR10983,Pfam_domain:PF01553,SMART_domains:SM00563,Superfamily_domains:0039877																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	77	43969193	43969193	G	C	1	0	0	0	0	1	0	0	0	470	1377	48	4		4	AGPAT3	21	43969193	Missense_Mutation	SNP	G	C3N-01414_TP	10418278	43969193	2740790	544	25250											
AIRE	0	.	GRCh38	chr21	44287591	44287591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgccttccactcgggaacGgtgagcggggcccagtggga	7	5	17	12	4	0	1	0	1	0	0	2	3	1	3	3	5	3	0	3	5	1	1	rs200899780		C3N-01414_TP	C3N-01414_NB	G	G																c.538G>T	p.Gly180Trp	p.G180W	ENST00000291582	4/14	190	162	28	323	323	0	strelka-varscan-mutect	AIRE,missense_variant,p.Gly180Trp,ENST00000291582,NM_000383.3;AIRE,splice_region_variant,,ENST00000530812,;AIRE,splice_region_variant,,ENST00000527919,;AIRE,upstream_gene_variant,,ENST00000337909,;AIRE,upstream_gene_variant,,ENST00000397994,;	T	ENST00000291582	Transcript	missense_variant,splice_region_variant	665/2257	538/1638	180/545	G/W	Ggg/Tgg	rs200899780,COSM5661260	1		1	AIRE	HGNC	HGNC:360	protein_coding	YES	CCDS13706.1	ENSP00000291582	O43918		UPI0000030FA6	NM_000383.3	deleterious(0)		4/14		Prints_domain:PR01711,hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF15											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs200899780	.												T	3	4	77	44287591	44287591	G	T	1	0	0	0	0	1	0	0	0	514	1130	39	1		1	AIRE	21	44287591	Missense_Mutation	SNP	G	C3N-01414_TP	318398	44287591	2422392	545	25251											
KRTAP10-1	0	.	GRCh38	chr21	44539530	44539530	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactgctggcagcatgaagtGgaagccccagagcagacggg	11	4	16	10	1	0	3	0	1	0	2	0	5	0	4	2	3	4	4	2	3	2	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.621C>A	p.=	p.S207S	ENST00000400375	1/1	457	393	64	738	738	0	strelka-varscan-mutect	KRTAP10-1,synonymous_variant,p.=,ENST00000400375,NM_198691.2;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,intron_variant,,ENST00000397916,;	T	ENST00000400375	Transcript	synonymous_variant	666/1215	621/849	207/282	S	tcC/tcA		1		-1	KRTAP10-1	HGNC	HGNC:22966	protein_coding	YES	CCDS42954.1	ENSP00000383226	P60331		UPI00003D4D6C	NM_198691.2			1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF72,Low_complexity_(Seg):seg																	LOW		SNV				1										PASS		rs1258170802	.												T	2	4	77	44539530	44539530	G	T	1	0	0	0	0	0	0	0	1	8388	1335	47	2		2	KRTAP10-1	21	44539530	Silent	SNP	G	C3N-01414_TP	251939	44539530	2170453	546	25252											
COL18A1	0	.	GRCh38	chr21	45468711	45468711	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccgcttgctcggtcctcAcggggcctggagctggagcc	4	8	15	14	3	1	0	1	0	0	0	3	2	2	2	4	5	4	3	4	5	0	1	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.1821A>T	p.=	p.S607S	ENST00000359759	2/41	138	105	33	266	266	0	strelka-varscan-mutect	COL18A1,synonymous_variant,p.=,ENST00000359759,NM_130444.2;COL18A1,synonymous_variant,p.=,ENST00000355480,NM_030582.3;COL18A1,synonymous_variant,p.=,ENST00000400337,NM_130445.3;	T	ENST00000359759	Transcript	synonymous_variant	1821/6586	1821/5265	607/1754	S	tcA/tcT		1		1	COL18A1	HGNC	HGNC:2195	protein_coding	YES	CCDS77643.1	ENSP00000352798	P39060		UPI0001838820	NM_130444.2			2/41		Pfam_domain:PF13385,SMART_domains:SM00210,Superfamily_domains:SSF49899																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	77	45468711	45468711	A	T	1	0	0	0	0	0	0	0	1	3463	146	6	4		4	COL18A1	21	45468711	Silent	SNP	A	C3N-01414_TP	929181	45468711	1241272	547	25253											
LSS	0	.	GRCh38	chr21	46215705	46215705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catataccacgcggagcagcCagctgtgcggcgtgtacagc	9	6	13	13	4	0	0	0	0	0	0	0	1	0	1	2	2	7	3	2	2	3	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.872G>T	p.Trp291Leu	p.W291L	ENST00000397728	8/22	73	56	17	97	97	0	strelka-varscan-mutect	LSS,missense_variant,p.Trp291Leu,ENST00000397728,NM_002340.5;LSS,missense_variant,p.Trp211Leu,ENST00000457828,NM_001145437.1;LSS,missense_variant,p.Trp291Leu,ENST00000356396,NM_001001438.2;LSS,missense_variant,p.Trp280Leu,ENST00000522411,NM_001145436.1;LSS,downstream_gene_variant,,ENST00000450351,;AP001469.5,upstream_gene_variant,,ENST00000418029,;AP001469.5,upstream_gene_variant,,ENST00000626933,;LSS,non_coding_transcript_exon_variant,,ENST00000464357,;	A	ENST00000397728	Transcript	missense_variant	951/4936	872/2199	291/732	W/L	tGg/tTg		1		-1	LSS	HGNC	HGNC:6708	protein_coding	YES	CCDS13733.1	ENSP00000380837	P48449		UPI000012A14D	NM_002340.5	tolerated(0.33)		8/22		Gene3D:1.50.10.20,Pfam_domain:PF13249,hmmpanther:PTHR11764,hmmpanther:PTHR11764:SF20,Superfamily_domains:SSF48239,TIGRFAM_domain:TIGR01787																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	46215705	46215705	C	A	1	0	0	0	0	1	0	0	0	8972	595	21	2		2	LSS	21	46215705	Missense_Mutation	SNP	C	C3N-01414_TP	746994	46215705	494278	548	25254											
ATP6V1E1	0	.	GRCh38	chr22	17612875	17612875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattcatcaaattggacatCtgactgcaaaacggtattga	14	12	8	7	1	3	3	2	3	1	0	3	4	3	4	0	2	2	2	0	2	4	4	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.213G>T	p.Gln71His	p.Q71H	ENST00000253413	4/9	76	66	10	191	190	1	strelka-varscan-mutect	ATP6V1E1,missense_variant,p.Gln71His,ENST00000253413,NM_001696.3;ATP6V1E1,missense_variant,p.Gln71His,ENST00000399796,NM_001039367.1;ATP6V1E1,missense_variant,p.Gln49His,ENST00000399798,NM_001039366.1;ATP6V1E1,missense_variant,p.Gln72His,ENST00000413576,;ATP6V1E1,non_coding_transcript_exon_variant,,ENST00000478963,;ATP6V1E1,downstream_gene_variant,,ENST00000460085,;ATP6V1E1,non_coding_transcript_exon_variant,,ENST00000484653,;ATP6V1E1,non_coding_transcript_exon_variant,,ENST00000481365,;	A	ENST00000253413	Transcript	missense_variant	396/1402	213/681	71/226	Q/H	caG/caT		1		-1	ATP6V1E1	HGNC	HGNC:857	protein_coding	YES	CCDS13745.1	ENSP00000253413	P36543	Q53Y06	UPI0000000C60	NM_001696.3	deleterious(0.01)		4/9		Low_complexity_(Seg):seg,HAMAP:MF_00311,hmmpanther:PTHR12317:SF20,hmmpanther:PTHR12317,Pfam_domain:PF01991																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	17612875	17612875	C	A	1	0	0	0	0	1	0	0	0	1336	927	32	2		2	ATP6V1E1	22	17612875	Missense_Mutation	SNP	C	C3N-01414_TP		17612875	33205593	549	25255											
CLTCL1	0	.	GRCh38	chr22	19226325	19226325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgccttctcacagagctggGcaatgtgggcccggtcgtaa	7	9	13	12	2	1	1	1	0	1	1	3	1	1	1	2	3	2	3	2	3	2	2	rs782573395		C3N-01414_TP	C3N-01414_NB	G	G																c.1841C>T	p.Ala614Val	p.A614V	ENST00000427926	12/33	206	146	60	335	335	0	strelka-varscan-mutect	CLTCL1,missense_variant,p.Ala614Val,ENST00000427926,NM_007098.3;CLTCL1,missense_variant,p.Ala614Val,ENST00000621271,NM_001835.3;CLTCL1,missense_variant,p.Ala614Val,ENST00000617103,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000615606,;CLTCL1,upstream_gene_variant,,ENST00000458188,;CLTCL1,downstream_gene_variant,,ENST00000540896,;	A	ENST00000427926	Transcript	missense_variant	1914/5513	1841/4923	614/1640	A/V	gCc/gTc	rs782573395	1		-1	CLTCL1	HGNC	HGNC:2093	protein_coding	YES	CCDS46662.2	ENSP00000441158	P53675		UPI0000127ABE	NM_007098.3	deleterious(0)		12/33		PROSITE_profiles:PS50236,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,Pfam_domain:PF00637,PIRSF_domain:PIRSF002290,SMART_domains:SM00299,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs782573395	.												A	3	1	77	19226325	19226325	G	A	1	0	0	0	0	1	0	0	0	3339	1203	42	3		3	CLTCL1	22	19226325	Missense_Mutation	SNP	G	C3N-01414_TP	1613450	19226325	31592143	550	25256											
PRAME	0	.	GRCh38	chr22	22549742	22549742	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgagcaactgatccaGgcggcctctaaggaaaaata	14	7	9	11	1	2	2	1	2	1	0	3	3	3	3	3	3	2	1	3	3	5	2	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.937C>T	p.=	p.L313L	ENST00000543184	4/5	50	37	13	111	111	0	strelka-varscan-mutect	PRAME,synonymous_variant,p.=,ENST00000543184,NM_206953.2;PRAME,synonymous_variant,p.=,ENST00000398741,NM_206955.2;PRAME,synonymous_variant,p.=,ENST00000398743,NM_206954.2,NM_001291715.1,NM_006115.4;PRAME,synonymous_variant,p.=,ENST00000405655,NM_206956.2,NM_001291716.1;PRAME,synonymous_variant,p.=,ENST00000402697,;PRAME,downstream_gene_variant,,ENST00000439106,;PRAME,downstream_gene_variant,,ENST00000406503,;PRAME,downstream_gene_variant,,ENST00000420709,;PRAME,downstream_gene_variant,,ENST00000403441,;PRAME,downstream_gene_variant,,ENST00000438888,;PRAME,downstream_gene_variant,,ENST00000485532,;PRAME,downstream_gene_variant,,ENST00000476336,;PRAME,non_coding_transcript_exon_variant,,ENST00000492657,;PRAME,downstream_gene_variant,,ENST00000442481,;	A	ENST00000543184	Transcript	synonymous_variant	1800/2758	937/1530	313/509	L	Ctg/Ttg		1		-1	PRAME	HGNC	HGNC:9336	protein_coding	YES	CCDS13801.1	ENSP00000445675	P78395	A0A024R1E6	UPI0000000DDA	NM_206953.2			4/5		hmmpanther:PTHR14224:SF4,hmmpanther:PTHR14224,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	22549742	22549742	G	A	1	0	0	0	0	0	0	0	1	12553	991	35	3		3	PRAME	22	22549742	Silent	SNP	G	C3N-01414_TP	3323417	22549742	28268726	551	25257											
SPECC1L	0	.	GRCh38	chr22	24313349	24313349	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttttagctggaatggccGgaggggtaacggtgactaat	10	10	14	7	2	0	1	0	1	0	0	0	3	0	3	2	6	2	2	2	6	4	4	rs548017612		C3N-01414_TP	C3N-01414_NB	G	G																c.190G>T	p.Gly64Ter	p.G64*	ENST00000314328	4/17	308	239	69	574	573	1	strelka-varscan-mutect	SPECC1L,stop_gained,p.Gly64Ter,ENST00000314328,NM_015330.4;SPECC1L,stop_gained,p.Gly64Ter,ENST00000437398,NM_001145468.3;SPECC1L,stop_gained,p.Gly64Ter,ENST00000541492,NM_001254732.2;SPECC1L,stop_gained,p.Gly64Ter,ENST00000421374,;SPECC1L,stop_gained,p.Gly3Ter,ENST00000440893,;SPECC1L,non_coding_transcript_exon_variant,,ENST00000416735,;SPECC1L-ADORA2A,stop_gained,p.Gly64Ter,ENST00000358654,;	T	ENST00000314328	Transcript	stop_gained	475/6756	190/3354	64/1117	G/*	Gga/Tga	rs548017612,COSM4998544	1		1	SPECC1L	HGNC	HGNC:29022	protein_coding	YES	CCDS33619.1	ENSP00000325785	Q69YQ0		UPI0004620B3B	NM_015330.4			4/17		hmmpanther:PTHR23167,hmmpanther:PTHR23167:SF18,Low_complexity_(Seg):seg											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs548017612	.												T	4	4	77	24313349	24313349	G	T	1	0	0	0	0	0	1	0	0	15384	1117	39	1		1	SPECC1L	22	24313349	Nonsense_Mutation	SNP	G	C3N-01414_TP	1763607	24313349	26505119	552	25258											
CRYBB2	0	.	GRCh38	chr22	25231742	25231752	+	Frame_Shift_Del	DEL	CCAACGTGGTG	CCAACGTGGTG	-																															atccgcgacatgcagtggcaCcaacgtggtgccttccaccc																								novel		C3N-01414_TP	C3N-01414_NB	CCAACGTGGTG	CCAACGTGGTG																c.590_600delAACGTGGTGCC	p.Gln197LeufsTer35	p.Q197Lfs*35	ENST00000398215	6/6	138	103	35	277	277	0	sindel-varindel-pindel	CRYBB2,frameshift_variant,p.Gln197LeufsTer35,ENST00000398215,NM_000496.2;	-	ENST00000398215	Transcript	frameshift_variant	759-769/886	588-598/618	196-200/205	HQRGA/HX	caCCAACGTGGTGcc/cacc		1		1	CRYBB2	HGNC	HGNC:2398	protein_coding	YES	CCDS13831.1	ENSP00000381273	P43320	R4UMM2	UPI000013C6A2	NM_000496.2			6/6		hmmpanther:PTHR11818:SF11,hmmpanther:PTHR11818,Gene3D:2.60.20.10																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	77	25231742	25231742	CCAACGTGGTG	-	1	0	1	0	1	0	0	0	0	3713	506	18	0		0	CRYBB2	22	25231742	Frame_Shift_Del	DEL	CCAACGTGGTG	C3N-01414_TP	918393	25231742	25586726	553	25259											
MYO18B	0	.	GRCh38	chr22	25898403	25898403	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgaccttgaggataccTgcgtcctgctagagaaccaa	10	9	10	12	1	0	3	0	2	0	1	1	5	1	4	5	1	4	1	5	1	4	3	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.4765T>A	p.Cys1589Ser	p.C1589S	ENST00000335473	29/44	194	170	24	357	357	0	strelka-varscan-mutect	MYO18B,missense_variant,p.Cys1589Ser,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,missense_variant,p.Cys1590Ser,ENST00000407587,;MYO18B,missense_variant,p.Cys1589Ser,ENST00000536101,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000609275,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000597284,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000609157,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000608507,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000608115,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000595102,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000594856,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000594542,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000609889,;CTA-125H2.2,non_coding_transcript_exon_variant,,ENST00000600903,;CTA-125H2.2,intron_variant,,ENST00000453457,;CTA-125H2.2,intron_variant,,ENST00000600211,;CTA-125H2.2,intron_variant,,ENST00000597548,;CTA-125H2.2,intron_variant,,ENST00000594585,;CTA-125H2.2,intron_variant,,ENST00000599080,;CTA-125H2.2,intron_variant,,ENST00000600269,;CTA-125H2.2,intron_variant,,ENST00000609570,;CTA-125H2.2,intron_variant,,ENST00000608257,;CTA-125H2.2,intron_variant,,ENST00000599792,;CTA-125H2.2,intron_variant,,ENST00000609823,;CTA-125H2.2,intron_variant,,ENST00000607895,;CTA-125H2.2,upstream_gene_variant,,ENST00000608921,;CTA-125H2.2,upstream_gene_variant,,ENST00000609820,;CTA-125H2.2,upstream_gene_variant,,ENST00000597614,;CTA-125H2.2,upstream_gene_variant,,ENST00000609809,;CTA-125H2.2,downstream_gene_variant,,ENST00000595093,;CTA-125H2.2,upstream_gene_variant,,ENST00000596813,;CTA-125H2.2,upstream_gene_variant,,ENST00000593715,;MYO18B,upstream_gene_variant,,ENST00000536204,;MYO18B,upstream_gene_variant,,ENST00000534908,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	A	ENST00000335473	Transcript	missense_variant	5015/8565	4765/7704	1589/2567	C/S	Tgc/Agc		1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5	deleterious(0)		29/44		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF372																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	25898403	25898403	T	A	1	0	0	0	0	1	0	0	0	10067	1580	55	4		4	MYO18B	22	25898403	Missense_Mutation	SNP	T	C3N-01414_TP	666661	25898403	24920065	554	25260											
DNAL4	0	.	GRCh38	chr22	38782721	38782721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcatctttcttcccttctGtttctcccatgatccttcca	4	18	2	17	0	5	1	1	1	4	0	9	1	8	1	5	0	0	1	5	0	0	5	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.11C>A	p.Thr4Lys	p.T4K	ENST00000216068	2/4	111	105	6	162	162	0	strelka-varscan-mutect	DNAL4,missense_variant,p.Thr4Lys,ENST00000216068,NM_005740.2;DNAL4,missense_variant,p.Thr4Lys,ENST00000406199,;SUN2,intron_variant,,ENST00000406622,;DNAL4,intron_variant,,ENST00000486019,;DNAL4,downstream_gene_variant,,ENST00000475512,;	T	ENST00000216068	Transcript	missense_variant	256/1504	11/318	4/105	T/K	aCa/aAa		1		-1	DNAL4	HGNC	HGNC:2955	protein_coding	YES	CCDS13979.1	ENSP00000216068	O96015		UPI0000129452	NM_005740.2	tolerated(0.92)		2/4		hmmpanther:PTHR11886																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	38782721	38782721	G	T	1	0	0	0	0	1	0	0	0	4471	1377	48	2		2	DNAL4	22	38782721	Missense_Mutation	SNP	G	C3N-01414_TP	12884318	38782721	12035747	555	25261											
CACNA1I	0	.	GRCh38	chr22	39619346	39619346	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggaccttcagaacatcaaCctgtcagccatccgcaccgt	10	8	7	16	2	3	1	3	0	0	1	4	2	4	2	5	1	3	1	5	1	2	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.519C>A	p.Asn173Lys	p.N173K	ENST00000402142	4/37	222	199	23	370	370	0	strelka-varscan-mutect	CACNA1I,missense_variant,p.Asn173Lys,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Asn173Lys,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Asn173Lys,ENST00000401624,;CACNA1I,missense_variant,p.Asn173Lys,ENST00000407673,;	A	ENST00000402142	Transcript	missense_variant	519/10004	519/6672	173/2223	N/K	aaC/aaA		1		1	CACNA1I	HGNC	HGNC:1396	protein_coding	YES	CCDS46710.1	ENSP00000385019	Q9P0X4		UPI000012727D	NM_021096.3	deleterious(0.01)		4/37		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF209,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	39619346	39619346	C	A	1	0	0	0	0	1	0	0	0	2234	506	18	2		2	CACNA1I	22	39619346	Missense_Mutation	SNP	C	C3N-01414_TP	836625	39619346	11199122	556	25262											
VCX3B	0	.	GRCh38	chrX	8465956	8465956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccagcacgaccccctgaGtcaggagagcgagctggagg	10	3	15	13	2	1	2	1	1	0	1	1	7	1	3	3	3	3	2	3	3	0	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.314G>T	p.Ser105Ile	p.S105I	ENST00000381032	3/3	37	19	18	41	41	0	strelka-varscan-mutect	VCX3B,missense_variant,p.Ser105Ile,ENST00000381032,NM_001001888.3;VCX3B,missense_variant,p.Ser105Ile,ENST00000453306,;VCX3B,missense_variant,p.Ser105Ile,ENST00000444481,;VCX3B,intron_variant,,ENST00000381029,;	T	ENST00000381032	Transcript	missense_variant	621/1171	314/741	105/246	S/I	aGt/aTt		1		1	VCX3B	HGNC	HGNC:31838	protein_coding	YES	CCDS48077.2	ENSP00000370420	Q9H321		UPI000057A469	NM_001001888.3	deleterious(0.02)		3/3		Pfam_domain:PF15231,hmmpanther:PTHR15251,hmmpanther:PTHR15251:SF0,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs1217126065	.												T	3	4	77	8465956	8465956	G	T	1	0	0	0	0	1	0	0	0	17690	1029	36	2		2	VCX3B	23	8465956	Missense_Mutation	SNP	G	C3N-01414_TP		8465956	147574939	557	25263											
CLCN4	0	.	GRCh38	chrX	10194970	10194970	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacggacctgaaggaggggGtctgcctgtctgccttctgg	5	10	16	10	1	3	2	0	2	3	0	3	4	3	4	3	5	2	0	3	5	1	1	rs760253224		C3N-01414_TP	C3N-01414_NB	G	G																c.304G>C	p.Val102Leu	p.V102L	ENST00000380833	5/13	143	121	22	185	185	0	strelka-varscan-mutect	CLCN4,missense_variant,p.Val102Leu,ENST00000380833,NM_001830.3;CLCN4,missense_variant,p.Val8Leu,ENST00000421085,NM_001256944.1;CLCN4,missense_variant,p.Val102Leu,ENST00000380829,;CLCN4,missense_variant,p.Val102Leu,ENST00000454850,;	C	ENST00000380833	Transcript	missense_variant	695/6750	304/2283	102/760	V/L	Gtc/Ctc	rs760253224	1		1	CLCN4	HGNC	HGNC:2022	protein_coding	YES	CCDS14137.1	ENSP00000370213	P51793		UPI0000127A99	NM_001830.3	tolerated(0.06)		5/13		Gene3D:1otsB00,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF18,Superfamily_domains:SSF81340																	MODERATE	1	SNV	1			1										PASS		rs760253224	.												C	3	2	77	10194970	10194970	G	C	1	0	0	0	0	1	0	0	0	3229	1261	44	4		4	CLCN4	23	10194970	Missense_Mutation	SNP	G	C3N-01414_TP	1729014	10194970	145845925	558	25264											
FANCB	0	.	GRCh38	chrX	14864999	14864999	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaatctcccctgcccacTgaatagaggaaaagttacct	12	11	6	12	0	2	2	1	1	1	1	3	3	2	3	4	1	2	1	4	1	6	3	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.512A>T	p.Gln171Leu	p.Q171L	ENST00000398334	3/10	116	45	71	185	185	0	strelka-varscan-mutect	FANCB,missense_variant,p.Gln171Leu,ENST00000398334,NM_001324162.1,NM_001018113.1;FANCB,missense_variant,p.Gln171Leu,ENST00000324138,NM_152633.2;FANCB,missense_variant,p.Gln171Leu,ENST00000452869,;FANCB,downstream_gene_variant,,ENST00000489126,;	A	ENST00000398334	Transcript	missense_variant	780/3008	512/2580	171/859	Q/L	cAg/cTg		1		-1	FANCB	HGNC	HGNC:3583	protein_coding	YES	CCDS14161.1	ENSP00000381378	Q8NB91	A0A024RBW1	UPI000006E70A	NM_001324162.1,NM_001018113.1	tolerated(0.2)		3/10		hmmpanther:PTHR28450																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	14864999	14864999	T	A	1	0	0	0	0	1	0	0	0	5522	1580	55	4		4	FANCB	23	14864999	Missense_Mutation	SNP	T	C3N-01414_TP	4670029	14864999	141175896	559	25265											
MAP3K15	0	.	GRCh38	chrX	19515036	19515036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagcctccgggccgccggCcgcgccgccctgggagctct	2	4	14	21	6	1	0	0	0	1	0	2	1	2	1	8	3	2	1	8	3	0	0	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.226G>T	p.Ala76Ser	p.A76S	ENST00000338883	1/29	111	103	8	105	105	0	strelka-mutect	MAP3K15,missense_variant,p.Ala76Ser,ENST00000338883,NM_001001671.3;	A	ENST00000338883	Transcript	missense_variant	226/4012	226/3942	76/1313	A/S	Gcc/Tcc		1		-1	MAP3K15	HGNC	HGNC:31689	protein_coding	YES	CCDS35212.2	ENSP00000345629	Q6ZN16		UPI0000E444D0	NM_001001671.3	tolerated(0.3)		1/29		Low_complexity_(Seg):seg,hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	77	19515036	19515036	C	A	1	0	0	0	0	1	0	0	0	9171	739	26	2		2	MAP3K15	23	19515036	Missense_Mutation	SNP	C	C3N-01414_TP	4650037	19515036	136525859	560	25266											
CNKSR2	0	.	GRCh38	chrX	21609080	21609080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttctacagatgagttgcGccagtccttatgtggaagca	9	12	10	10	1	1	2	0	1	1	1	2	3	2	3	3	1	3	2	3	1	3	4	rs768216123		C3N-01414_TP	C3N-01414_NB	G	G																c.2155G>T	p.Ala719Ser	p.A719S	ENST00000379510	20/22	41	16	25	47	47	0	strelka-varscan-mutect	CNKSR2,missense_variant,p.Ala689Ser,ENST00000425654,NM_001168647.1;CNKSR2,missense_variant,p.Ala719Ser,ENST00000379510,NM_014927.3;CNKSR2,missense_variant,p.Ala719Ser,ENST00000279451,NM_001168648.1;CNKSR2,missense_variant,p.Ala670Ser,ENST00000543067,NM_001168649.1;	T	ENST00000379510	Transcript	missense_variant	2191/5315	2155/3105	719/1034	A/S	Gcc/Tcc	rs768216123,COSM1119162	1		1	CNKSR2	HGNC	HGNC:19701	protein_coding	YES	CCDS14198.1	ENSP00000368824	Q8WXI2		UPI0000070D72	NM_014927.3	tolerated(1)		20/22		hmmpanther:PTHR12844:SF21,hmmpanther:PTHR12844											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs768216123	.												T	3	4	77	21609080	21609080	G	T	1	0	0	0	0	1	0	0	0	3387	1087	38	1		1	CNKSR2	23	21609080	Missense_Mutation	SNP	G	C3N-01414_TP	2094044	21609080	134431815	561	25267											
RP5-972B16.2	0	.	GRCh38	chrX	38674250	38674250	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttcctgaggacttacacGgacgctatgcagacttacaa	12	9	8	12	2	0	2	0	1	0	1	1	4	1	4	2	2	3	2	2	2	4	4	rs11541004		C3N-01414_TP	C3N-01414_NB	G	G																c.375G>T	p.=	p.T125T	ENST00000378482	4/8	241	108	133	307	307	0	strelka-varscan-mutect	TSPAN7,synonymous_variant,p.=,ENST00000378482,NM_004615.3;TSPAN7,synonymous_variant,p.=,ENST00000286824,;RP5-972B16.2,synonymous_variant,p.=,ENST00000465127,;TSPAN7,non_coding_transcript_exon_variant,,ENST00000488893,;TSPAN7,downstream_gene_variant,,ENST00000494037,;TSPAN7,3_prime_UTR_variant,,ENST00000475216,;TSPAN7,3_prime_UTR_variant,,ENST00000471410,;TSPAN7,3_prime_UTR_variant,,ENST00000480976,;TSPAN7,non_coding_transcript_exon_variant,,ENST00000419600,;	T	ENST00000378482	Transcript	synonymous_variant	552/1909	375/750	125/249	T	acG/acT	rs11541004	1		1	TSPAN7	HGNC	HGNC:11854	protein_coding	YES	CCDS14248.1	ENSP00000367743	P41732		UPI000013683C	NM_004615.3			4/8		Superfamily_domains:0037997,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF257																	LOW	1	SNV	1			1										PASS		rs11541004	.												T	2	4	77	38674250	38674250	G	T	1	0	0	0	0	0	0	0	1	13785	1103	39	1		1	RP5-972B16.2	23	38674250	Silent	SNP	G	C3N-01414_TP	17065170	38674250	117366645	562	25268											
MED14	0	.	GRCh38	chrX	40697132	40697132	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatgtttcactgcttatCgtaggcagatgttttataga	10	16	9	6	1	1	2	1	0	0	2	2	2	1	2	0	1	2	6	0	1	5	6	rs867624763		C3N-01414_TP	C3N-01414_NB	C	C																c.1542G>T	p.=	p.T514T	ENST00000324817	13/31	116	51	65	123	123	0	strelka-varscan-mutect	MED14,synonymous_variant,p.=,ENST00000324817,NM_004229.3;	A	ENST00000324817	Transcript	synonymous_variant	1661/7984	1542/4365	514/1454	T	acG/acT	rs867624763	1		-1	MED14	HGNC	HGNC:2370	protein_coding	YES	CCDS14254.1	ENSP00000323720	O60244		UPI00001414B1	NM_004229.3			13/31		hmmpanther:PTHR12809																	LOW	1	SNV	1			1										PASS		rs867624763	.												A	2	1	77	40697132	40697132	C	A	1	0	0	0	0	0	0	0	1	9371	871	31	1		1	MED14	23	40697132	Silent	SNP	C	C3N-01414_TP	2022882	40697132	115343763	563	25269											
USP9X	0	.	GRCh38	chrX	41123656	41123656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacgactcgtggctctccgGtcggagggaatgacaaccag	9	6	13	13	4	1	1	0	1	1	0	4	4	1	3	3	4	1	1	3	4	2	0	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.28G>T	p.Val10Phe	p.V10F	ENST00000324545	2/45	125	62	63	171	171	0	strelka-varscan-mutect	USP9X,missense_variant,p.Val10Phe,ENST00000324545,NM_001039590.2;USP9X,missense_variant,p.Val10Phe,ENST00000378308,NM_001039591.2;	T	ENST00000324545	Transcript	missense_variant	661/12401	28/7713	10/2570	V/F	Gtc/Ttc		1		1	USP9X	HGNC	HGNC:12632	protein_coding	YES	CCDS43930.1	ENSP00000316357	Q93008		UPI00001AF419	NM_001039590.2	deleterious_low_confidence(0.01)		2/45																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	77	41123656	41123656	G	T	1	0	0	0	0	1	0	0	0	17633	1261	44	2		2	USP9X	23	41123656	Missense_Mutation	SNP	G	C3N-01414_TP	426524	41123656	114917239	564	25270											
EFHC2	0	.	GRCh38	chrX	44272776	44272776	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattttatagtatcttattcTgtagttggtttggcttttat	7	23	8	3	0	2	0	0	0	2	0	2	1	2	0	0	2	0	5	0	2	6	11	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.292A>T	p.Arg98Ter	p.R98*	ENST00000420999	3/15	169	137	32	251	251	0	strelka-varscan-mutect	EFHC2,stop_gained,p.Arg98Ter,ENST00000420999,NM_025184.3;	A	ENST00000420999	Transcript	stop_gained	376/2464	292/2250	98/749	R/*	Aga/Tga		1		-1	EFHC2	HGNC	HGNC:26233	protein_coding	YES	CCDS55405.1	ENSP00000404232	Q5JST6		UPI00000717F2	NM_025184.3			3/15		PROSITE_profiles:PS51336,hmmpanther:PTHR12086,hmmpanther:PTHR12086:SF11,SMART_domains:SM00676																	HIGH	1	SNV	1			1										PASS		rs1323183173	.												A	4	1	77	44272776	44272776	T	A	1	0	0	0	0	0	1	0	0	4782	1588	55	4		4	EFHC2	23	44272776	Nonsense_Mutation	SNP	T	C3N-01414_TP	3149120	44272776	111768119	565	25271											
KDM5C	0	.	GRCh38	chrX	53220916	53220916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaaagggtggctgccagtCctgagagggtagagagggga	11	5	19	6	0	0	2	0	1	0	2	1	5	1	3	2	5	2	3	2	5	2	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.151G>T	p.Asp51Tyr	p.D51Y	ENST00000375401	2/26	233	120	113	264	263	1	strelka-varscan-mutect	KDM5C,missense_variant,p.Asp51Tyr,ENST00000375401,NM_004187.3;KDM5C,missense_variant,p.Asp51Tyr,ENST00000404049,NM_001282622.1;KDM5C,missense_variant,p.Asp51Tyr,ENST00000375379,;KDM5C,missense_variant,p.Asp51Tyr,ENST00000375383,;KDM5C,intron_variant,,ENST00000452825,NM_001146702.1;KDM5C,splice_region_variant,,ENST00000467093,;KDM5C,upstream_gene_variant,,ENST00000495519,;KDM5C,missense_variant,p.Asp51Tyr,ENST00000428012,;KDM5C,splice_region_variant,,ENST00000429877,;KDM5C,downstream_gene_variant,,ENST00000349663,;KDM5C,upstream_gene_variant,,ENST00000497995,;	A	ENST00000375401	Transcript	missense_variant,splice_region_variant	684/6031	151/4683	51/1560	D/Y	Gac/Tac		1		-1	KDM5C	HGNC	HGNC:11114	protein_coding	YES	CCDS14351.1	ENSP00000364550	P41229		UPI000013CBE3	NM_004187.3	deleterious(0)		2/26		PROSITE_profiles:PS51183,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF43,SMART_domains:SM00545																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	53220916	53220916	C	A	1	0	0	0	0	1	0	0	0	8053	869	30	2		2	KDM5C	23	53220916	Missense_Mutation	SNP	C	C3N-01414_TP	8948140	53220916	102819979	566	25272											
MAGEH1	0	.	GRCh38	chrX	55452638	55452638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaattttcagggcaccaaGaaaagtctcctgatgtctat	13	11	8	9	0	3	2	1	1	2	1	4	2	3	2	2	1	1	2	2	1	5	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.264G>T	p.Lys88Asn	p.K88N	ENST00000342972	1/1	156	130	26	203	202	1	strelka-varscan-mutect	MAGEH1,missense_variant,p.Lys88Asn,ENST00000342972,NM_014061.4;hsa-mir-4536-1,downstream_gene_variant,,ENST00000583537,;MIR4536-2,upstream_gene_variant,,ENST00000636519,;	T	ENST00000342972	Transcript	missense_variant	534/1462	264/660	88/219	K/N	aaG/aaT		1		1	MAGEH1	HGNC	HGNC:24092	protein_coding	YES	CCDS14369.1	ENSP00000343706	Q9H213		UPI0000038A64	NM_014061.4	deleterious_low_confidence(0.01)		1/1		Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF8,SMART_domains:SM01373																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	77	55452638	55452638	G	T	1	0	0	0	0	1	0	0	0	9106	933	33	2		2	MAGEH1	23	55452638	Missense_Mutation	SNP	G	C3N-01414_TP	2231722	55452638	100588257	567	25273											
ABCB7	0	.	GRCh38	chrX	75069369	75069369	+	Frame_Shift_Del	DEL	C	C	-																															ttccactaaggactttctggCcctcaatgtattcaaaatgc																								novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1454delG	p.Gly485AlafsTer21	p.G485Afs*21	ENST00000253577	11/16	195	156	39	305	305	0	sindel-varindel-pindel	ABCB7,frameshift_variant,p.Gly445AlafsTer21,ENST00000620875,NM_001271699.1;ABCB7,frameshift_variant,p.Gly485AlafsTer21,ENST00000253577,NM_004299.4;ABCB7,frameshift_variant,p.Gly484AlafsTer21,ENST00000373394,NM_001271696.1;ABCB7,frameshift_variant,p.Gly444AlafsTer21,ENST00000339447,NM_001271697.1;ABCB7,frameshift_variant,p.Gly458AlafsTer21,ENST00000529949,NM_001271698.1;ABCB7,non_coding_transcript_exon_variant,,ENST00000534570,;ABCB7,non_coding_transcript_exon_variant,,ENST00000469368,;	-	ENST00000253577	Transcript	frameshift_variant	1479/2377	1454/2262	485/753	G/X	gGc/gc		1		-1	ABCB7	HGNC	HGNC:48	protein_coding	YES	CCDS14428.1	ENSP00000253577	O75027	A0A0S2Z2Z3	UPI0000169E78	NM_004299.4			11/16		PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF187,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	77	75069369	75069369	C	-	1	0	1	0	1	0	0	0	0	50	739	26	0		0	ABCB7	23	75069369	Frame_Shift_Del	DEL	C	C3N-01414_TP	19616731	75069369	80971526	568	25274											
MAGEE1	0	.	GRCh38	chrX	76428272	76428272	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgagggcctaagcacCtccgggcctcccaccatctc	7	6	9	19	1	1	1	0	1	1	0	4	1	3	1	7	2	1	1	7	2	1	1	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.342C>G	p.=	p.T114T	ENST00000361470	1/1	113	100	13	194	194	0	strelka-varscan-mutect	MAGEE1,synonymous_variant,p.=,ENST00000361470,NM_020932.2;	G	ENST00000361470	Transcript	synonymous_variant	549/3630	342/2874	114/957	T	acC/acG		1		1	MAGEE1	HGNC	HGNC:24934	protein_coding	YES	CCDS14433.1	ENSP00000354912	Q9HCI5		UPI000006F138	NM_020932.2			1/1																			LOW	1	SNV				1										PASS		.	.												G	2	3	77	76428272	76428272	C	G	1	0	0	0	0	0	0	0	1	9103	668	24	4		4	MAGEE1	23	76428272	Silent	SNP	C	C3N-01414_TP	1358903	76428272	79612623	569	25275											
PCDH11X	0	.	GRCh38	chrX	92618894	92618894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactccacgccaacaggccaGaccgtccagaggtgattccc	10	5	9	17	2	0	3	0	1	0	2	3	3	3	3	6	2	1	0	6	2	1	1			C3N-01414_TP	C3N-01414_NB	G	G																c.3998G>A	p.Arg1333Lys	p.R1333K	ENST00000373094	7/7	249	125	124	383	383	0	strelka-varscan-mutect	PCDH11X,missense_variant,p.Arg1333Lys,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Arg1323Lys,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Arg1325Lys,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Arg1315Lys,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Arg1296Lys,ENST00000373088,NM_001168362.1;PCDH11X,3_prime_UTR_variant,,ENST00000504220,NM_001168361.1;	A	ENST00000373094	Transcript	missense_variant	4843/9179	3998/4044	1333/1347	R/K	aGa/aAa	COSM5048771,COSM5048772	1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4	deleterious_low_confidence(0)		7/7													1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	77	92618894	92618894	G	A	1	0	0	0	0	1	0	0	0	11595	942	33	3		3	PCDH11X	23	92618894	Missense_Mutation	SNP	G	C3N-01414_TP	16190622	92618894	63422001	570	25276											
NRK	0	.	GRCh38	chrX	105949614	105949614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacagaatatcatcattttaCctgattgcttgggaattggc	11	14	8	8	0	2	2	2	1	0	1	2	3	2	3	1	2	2	1	1	2	4	6	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.4393C>T	p.Pro1465Ser	p.P1465S	ENST00000243300	27/29	93	88	5	125	125	0	strelka-varscan-mutect	NRK,missense_variant,p.Pro1465Ser,ENST00000243300,NM_198465.3;NRK,missense_variant,p.Pro46Ser,ENST00000540278,;	T	ENST00000243300	Transcript	missense_variant	4696/8062	4393/4749	1465/1582	P/S	Cct/Tct		1		1	NRK	HGNC	HGNC:25391	protein_coding	YES	CCDS65305.1	ENSP00000434830	Q7Z2Y5		UPI0000418886	NM_198465.3	deleterious(0)		27/29		Low_complexity_(Seg):seg,PROSITE_profiles:PS50219,Pfam_domain:PF00780,SMART_domains:SM00036																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	105949614	105949614	C	T	1	0	0	0	0	1	0	0	0	10713	507	18	3		3	NRK	23	105949614	Missense_Mutation	SNP	C	C3N-01414_TP	13330720	105949614	50091281	571	25277											
NUP62CL	0	.	GRCh38	chrX	107153493	107153493	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgttcacttctccatgtAaaatacgaatctataaagag	14	14	5	8	1	3	1	1	0	2	1	4	2	3	1	1	0	1	2	1	0	7	7	novel		C3N-01414_TP	C3N-01414_NB	A	A																c.356T>A	p.Leu119Ter	p.L119*	ENST00000372466	6/9	31	14	17	44	44	0	strelka-varscan-mutect	NUP62CL,stop_gained,p.Leu119Ter,ENST00000372466,NM_017681.2;NUP62CL,stop_gained,p.Leu51Ter,ENST00000432145,;NUP62CL,stop_gained,p.Leu119Ter,ENST00000421752,;NUP62CL,missense_variant,p.Tyr69Asn,ENST00000484614,;	T	ENST00000372466	Transcript	stop_gained	608/1755	356/555	119/184	L/*	tTa/tAa		1		-1	NUP62CL	HGNC	HGNC:25960	protein_coding	YES	CCDS14527.1	ENSP00000361544	Q9H1M0	A0A0S2Z5E8	UPI0000071522	NM_017681.2			6/9		hmmpanther:PTHR12084,hmmpanther:PTHR12084:SF3,Pfam_domain:PF05064																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	77	107153493	107153493	A	T	1	0	0	0	0	0	1	0	0	10835	372	13	4		4	NUP62CL	23	107153493	Nonsense_Mutation	SNP	A	C3N-01414_TP	1203879	107153493	48887402	572	25278											
THOC2	0	.	GRCh38	chrX	123644811	123644811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaatgttttaaacattccCcatagttcctcagacataca	14	12	5	10	0	1	1	1	0	0	1	3	2	3	2	3	1	2	2	3	1	5	6	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.1527G>T	p.Trp509Cys	p.W509C	ENST00000245838	14/39	79	29	50	109	109	0	strelka-varscan-mutect	THOC2,missense_variant,p.Trp509Cys,ENST00000245838,NM_001081550.1;THOC2,missense_variant,p.Trp509Cys,ENST00000355725,;THOC2,missense_variant,p.Trp394Cys,ENST00000491737,;	A	ENST00000245838	Transcript	missense_variant	1559/5609	1527/4782	509/1593	W/C	tgG/tgT		1		-1	THOC2	HGNC	HGNC:19073	protein_coding	YES	CCDS43988.1	ENSP00000245838	Q8NI27		UPI00001D7C42	NM_001081550.1	deleterious(0.01)		14/39		hmmpanther:PTHR21597,hmmpanther:PTHR21597:SF1,Pfam_domain:PF16134																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	77	123644811	123644811	C	A	1	0	0	0	0	1	0	0	0	16300	624	22	2		2	THOC2	23	123644811	Missense_Mutation	SNP	C	C3N-01414_TP	16491318	123644811	32396084	573	25279											
SASH3	0	.	GRCh38	chrX	129793104	129793104	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagcaccgggccaagcTgctcacggccgccgagctgc	7	4	12	18	4	1	0	1	0	0	0	2	1	2	0	5	2	5	4	5	2	1	0	novel		C3N-01414_TP	C3N-01414_NB	T	T																c.917T>A	p.Leu306Gln	p.L306Q	ENST00000356892	7/8	134	59	75	151	151	0	strelka-varscan-mutect	SASH3,missense_variant,p.Leu306Gln,ENST00000356892,NM_018990.3;RP4-753P9.3,upstream_gene_variant,,ENST00000432513,;Metazoa_SRP,downstream_gene_variant,,ENST00000614439,;SASH3,downstream_gene_variant,,ENST00000476532,;	A	ENST00000356892	Transcript	missense_variant	1031/2626	917/1143	306/380	L/Q	cTg/cAg		1		1	SASH3	HGNC	HGNC:15975	protein_coding	YES	CCDS14614.1	ENSP00000349359	O75995		UPI000006EC21	NM_018990.3	deleterious(0)		7/8		PROSITE_profiles:PS50105,hmmpanther:PTHR12301,Pfam_domain:PF07647,Gene3D:1.10.150.50,SMART_domains:SM00454,Superfamily_domains:SSF47769																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	77	129793104	129793104	T	A	1	0	0	0	0	1	0	0	0	14110	1580	55	4		4	SASH3	23	129793104	Missense_Mutation	SNP	T	C3N-01414_TP	6148293	129793104	26247791	574	25280											
ADGRG4	0	.	GRCh38	chrX	136345170	136345170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtatttcctagaaaccaGacagcatttccattggcaac	12	12	6	11	0	1	2	0	0	1	2	3	2	3	2	3	1	3	3	3	1	4	5	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1464G>T	p.Gln488His	p.Q488H	ENST00000394143	6/26	137	52	85	143	143	0	strelka-varscan-mutect	ADGRG4,missense_variant,p.Gln488His,ENST00000394143,NM_153834.3;ADGRG4,missense_variant,p.Gln488His,ENST00000370652,;ADGRG4,missense_variant,p.Gln283His,ENST00000394141,;	T	ENST00000394143	Transcript	missense_variant	1755/9931	1464/9243	488/3080	Q/H	caG/caT		1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3	tolerated(0.09)		6/26																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	136345170	136345170	G	T	1	0	0	0	0	1	0	0	0	371	933	33	2		2	ADGRG4	23	136345170	Missense_Mutation	SNP	G	C3N-01414_TP	6552066	136345170	19695725	575	25281											
ADGRG4	0	.	GRCh38	chrX	136345350	136345350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccatgtctacttccatGtcgaaagagacctcctctaa	11	11	7	12	1	2	1	0	0	2	1	5	4	4	1	4	0	2	0	4	0	3	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.1644G>T	p.Met548Ile	p.M548I	ENST00000394143	6/26	147	67	80	185	185	0	strelka-varscan-mutect	ADGRG4,missense_variant,p.Met548Ile,ENST00000394143,NM_153834.3;ADGRG4,missense_variant,p.Met548Ile,ENST00000370652,;ADGRG4,missense_variant,p.Met343Ile,ENST00000394141,;	T	ENST00000394143	Transcript	missense_variant	1935/9931	1644/9243	548/3080	M/I	atG/atT		1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3	tolerated(0.22)		6/26		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	136345350	136345350	G	T	1	0	0	0	0	1	0	0	0	371	1377	48	2		2	ADGRG4	23	136345350	Missense_Mutation	SNP	G	C3N-01414_TP	180	136345350	19695545	576	25282											
ADGRG4	0	.	GRCh38	chrX	136361486	136361486	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagctgatgaaacagcCtctaaatacaaagggaccta	17	7	8	9	0	1	2	0	2	1	0	1	3	1	3	2	1	5	2	2	1	7	3	novel		C3N-01414_TP	C3N-01414_NB	C	C																c.7176C>A	p.=	p.A2392A	ENST00000394143	12/26	76	32	44	115	115	0	strelka-varscan-mutect	ADGRG4,synonymous_variant,p.=,ENST00000394143,NM_153834.3;ADGRG4,synonymous_variant,p.=,ENST00000370652,;ADGRG4,synonymous_variant,p.=,ENST00000394141,;	A	ENST00000394143	Transcript	synonymous_variant	7467/9931	7176/9243	2392/3080	A	gcC/gcA		1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3			12/26																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	77	136361486	136361486	C	A	1	0	0	0	0	0	0	0	1	371	668	24	2		2	ADGRG4	23	136361486	Silent	SNP	C	C3N-01414_TP	16136	136361486	19679409	577	25283											
TMEM185A	0	.	GRCh38	chrX	149599557	149599557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgctgagtacatacagtGgtttcctcccttctgtccaa	10	13	7	11	0	1	1	0	1	1	0	4	1	4	1	3	1	3	3	3	1	4	4	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.805C>A	p.His269Asn	p.H269N	ENST00000600449	6/7	116	89	27	157	157	0	strelka-varscan-mutect	TMEM185A,missense_variant,p.His269Asn,ENST00000600449,NM_032508.3;TMEM185A,missense_variant,p.His210Asn,ENST00000611119,NM_001174092.2;TMEM185A,missense_variant,p.His91Asn,ENST00000613273,;TMEM185A,missense_variant,p.His142Asn,ENST00000502858,;HSFX2,upstream_gene_variant,,ENST00000598963,NM_001164415.2;TMEM185A,downstream_gene_variant,,ENST00000507237,NM_001282302.1;TMEM185A,3_prime_UTR_variant,,ENST00000612022,;TMEM185A,non_coding_transcript_exon_variant,,ENST00000616857,;TMEM185A,downstream_gene_variant,,ENST00000502618,;	T	ENST00000600449	Transcript	missense_variant	1137/2840	805/1053	269/350	H/N	Cac/Aac		1		-1	TMEM185A	HGNC	HGNC:17125	protein_coding	YES	CCDS14689.1	ENSP00000471932	Q8NFB2		UPI0000049DA9	NM_032508.3	tolerated(0.08)		6/7		hmmpanther:PTHR13568,hmmpanther:PTHR13568:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	77	149599557	149599557	G	T	1	0	0	0	0	1	0	0	0	16550	1362	47	2		2	TMEM185A	23	149599557	Missense_Mutation	SNP	G	C3N-01414_TP	13238071	149599557	6441338	578	25284											
BGN	0	.	GRCh38	chrX	153508396	153508396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagccggccactttccGctgcgtcactgaccgcctgg	4	8	13	16	4	1	1	1	1	0	0	2	1	2	1	5	3	3	2	5	3	0	1	rs368783683		C3N-01414_TP	C3N-01414_NB	G	G																c.1058G>A	p.Arg353His	p.R353H	ENST00000331595	8/8	153	129	24	183	183	0	strelka-varscan-mutect	BGN,missense_variant,p.Arg353His,ENST00000331595,NM_001711.4;BGN,downstream_gene_variant,,ENST00000431891,;BGN,non_coding_transcript_exon_variant,,ENST00000480756,;BGN,non_coding_transcript_exon_variant,,ENST00000472615,;BGN,intron_variant,,ENST00000492658,;	A	ENST00000331595	Transcript	missense_variant	1244/2402	1058/1107	353/368	R/H	cGc/cAc	rs368783683,COSM3694416	1		1	BGN	HGNC	HGNC:1044	protein_coding	YES	CCDS14721.1	ENSP00000327336	P21810		UPI000003BDBA	NM_001711.4	deleterious(0)		8/8		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF6,PIRSF_domain:PIRSF002490											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs368783683	.												A	3	1	77	153508396	153508396	G	A	1	0	0	0	0	1	0	0	0	1566	1087	38	1		1	BGN	23	153508396	Missense_Mutation	SNP	G	C3N-01414_TP	3908839	153508396	2532499	579	25285											
DKC1	0	.	GRCh38	chrX	154766294	154766294	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggattcgacggatacttcgGgtggagaagacagggcacag	11	7	16	7	3	0	2	0	0	0	2	2	6	0	4	0	5	1	1	0	5	2	3	novel		C3N-01414_TP	C3N-01414_NB	G	G																c.342G>T	p.=	p.R114R	ENST00000369550	5/15	116	51	65	163	163	0	strelka-varscan-mutect	DKC1,synonymous_variant,p.=,ENST00000620277,NM_001288747.1;DKC1,synonymous_variant,p.=,ENST00000369550,NM_001142463.2,NM_001363.4;DKC1,synonymous_variant,p.=,ENST00000413910,;DKC1,synonymous_variant,p.=,ENST00000437719,;SNORA36A,upstream_gene_variant,,ENST00000384221,;DKC1,upstream_gene_variant,,ENST00000626756,;DKC1,non_coding_transcript_exon_variant,,ENST00000473552,;DKC1,upstream_gene_variant,,ENST00000475966,;DKC1,synonymous_variant,p.=,ENST00000452771,;DKC1,upstream_gene_variant,,ENST00000426673,;DKC1,upstream_gene_variant,,ENST00000484317,;DKC1,upstream_gene_variant,,ENST00000412124,;DKC1,downstream_gene_variant,,ENST00000475423,;	T	ENST00000369550	Transcript	synonymous_variant	552/2577	342/1545	114/514	R	cgG/cgT		1		1	DKC1	HGNC	HGNC:2890	protein_coding	YES	CCDS14761.1	ENSP00000358563	O60832		UPI00000325ED	NM_001142463.2,NM_001363.4			5/15		hmmpanther:PTHR23127,Pfam_domain:PF01509,TIGRFAM_domain:TIGR00425,Superfamily_domains:SSF55120																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	77	154766294	154766294	G	T	1	0	0	0	0	0	0	0	1	4349	1219	43	2		2	DKC1	23	154766294	Silent	SNP	G	C3N-01414_TP	1257898	154766294	1274601	580	25286											
SSU72	0	.	GRCh38	chr1	1543967	1543967	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgcacaggctggcaggtctCctgttctctggaattcagat	7	12	12	10	0	3	1	1	0	2	1	5	2	3	2	1	4	1	4	1	4	1	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.385G>T	p.Glu129Ter	p.E129*	ENST00000291386	4/5	157	142	15	151	151	0	strelka-varscan-mutect	SSU72,stop_gained,p.Glu129Ter,ENST00000291386,NM_014188.2;TMEM240,upstream_gene_variant,,ENST00000624426,;TMEM240,upstream_gene_variant,,ENST00000378733,NM_001114748.1;TMEM240,upstream_gene_variant,,ENST00000425828,;SSU72,non_coding_transcript_exon_variant,,ENST00000378726,;SSU72,downstream_gene_variant,,ENST00000378725,;	A	ENST00000291386	Transcript	stop_gained	697/1290	385/585	129/194	E/*	Gag/Tag		1		-1	SSU72	HGNC	HGNC:25016	protein_coding	YES	CCDS32.1	ENSP00000291386	Q9NP77		UPI00000437EE	NM_014188.2			4/5		hmmpanther:PTHR20383:SF11,hmmpanther:PTHR20383,Pfam_domain:PF04722																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	78	1543967	1543967	C	A	1	0	0	0	0	0	1	0	0	15579	864	30	2		2	SSU72	1	1543967	Nonsense_Mutation	SNP	C	C3N-01415_TP		1543967	247412455	1	25287											
MMEL1	0	.	GRCh38	chr1	2592684	2592684	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccgcacccctccgttgtCagcaatgttttccccaaggg	6	11	9	15	2	1	0	1	0	0	0	3	0	3	0	6	1	2	4	6	1	2	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.2038G>T	p.Asp680Tyr	p.D680Y	ENST00000378412	21/24	139	121	18	117	117	0	strelka-mutect	MMEL1,missense_variant,p.Asp680Tyr,ENST00000378412,NM_033467.3;MMEL1,missense_variant,p.Asp523Tyr,ENST00000502556,;FAM213B,downstream_gene_variant,,ENST00000444521,NM_001195736.1;FAM213B,downstream_gene_variant,,ENST00000378424,;FAM213B,downstream_gene_variant,,ENST00000419916,NM_152371.3,NM_001195737.1;FAM213B,downstream_gene_variant,,ENST00000378427,NM_001195738.1;FAM213B,downstream_gene_variant,,ENST00000378425,NM_001195740.1;FAM213B,downstream_gene_variant,,ENST00000537325,NM_001195741.1;FAM213B,downstream_gene_variant,,ENST00000465233,;MMEL1,upstream_gene_variant,,ENST00000471840,;FAM213B,downstream_gene_variant,,ENST00000498083,;FAM213B,downstream_gene_variant,,ENST00000484099,;FAM213B,downstream_gene_variant,,ENST00000464043,;FAM213B,downstream_gene_variant,,ENST00000493183,;FAM213B,downstream_gene_variant,,ENST00000474659,;FAM213B,downstream_gene_variant,,ENST00000481683,;MMEL1,3_prime_UTR_variant,,ENST00000504800,;MMEL1,non_coding_transcript_exon_variant,,ENST00000464195,;MMEL1,non_coding_transcript_exon_variant,,ENST00000469962,;MMEL1,intron_variant,,ENST00000491941,;FAM213B,downstream_gene_variant,,ENST00000476686,;FAM213B,downstream_gene_variant,,ENST00000477045,;	A	ENST00000378412	Transcript	missense_variant	2200/2849	2038/2340	680/779	D/Y	Gac/Tac		1		-1	MMEL1	HGNC	HGNC:14668	protein_coding	YES	CCDS30569.2	ENSP00000367668	Q495T6		UPI0000047596	NM_033467.3	deleterious(0)		21/24		Gene3D:3.40.390.10,Pfam_domain:PF01431,Prints_domain:PR00786,hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF141,Superfamily_domains:SSF55486																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	78	2592684	2592684	C	A	1	0	0	0	0	1	0	0	0	9609	826	29	2		2	MMEL1	1	2592684	Missense_Mutation	SNP	C	C3N-01415_TP	1048717	2592684	246363738	2	25288											
CCDC27	0	.	GRCh38	chr1	3752792	3752792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccatcagccgctactacaGgaagacggtatggggtcccg	10	6	13	12	3	1	1	1	0	0	1	2	3	2	2	3	4	3	2	3	4	4	3	rs76597070		C3N-01415_TP	C3N-01415_NB	G	G																c.311G>T	p.Arg104Met	p.R104M	ENST00000294600	1/12	140	124	16	182	182	0	strelka-varscan-mutect	CCDC27,missense_variant,p.Arg104Met,ENST00000294600,NM_152492.2;CCDC27,missense_variant,p.Arg104Met,ENST00000462521,;CCDC27,non_coding_transcript_exon_variant,,ENST00000636250,;	T	ENST00000294600	Transcript	missense_variant	395/2176	311/1971	104/656	R/M	aGg/aTg	rs76597070	1		1	CCDC27	HGNC	HGNC:26546	protein_coding	YES	CCDS50.1	ENSP00000294600	Q2M243		UPI000013E186	NM_152492.2	deleterious(0.01)		1/12		hmmpanther:PTHR18853:SF8,hmmpanther:PTHR18853												23251661					MODERATE	1	SNV	1		1	1										PASS		rs76597070	.												T	3	4	78	3752792	3752792	G	T	1	0	0	0	0	1	0	0	0	2511	1000	35	2		2	CCDC27	1	3752792	Missense_Mutation	SNP	G	C3N-01415_TP	1160108	3752792	245203630	3	25289											
CEP104	0	.	GRCh38	chr1	3836493	3836493	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttttttttttttttttttAccaaggtttctcccaacaca	7	24	2	8	0	1	0	0	0	1	0	2	0	1	0	2	1	2	1	2	1	3	11	rs770445221		C3N-01415_TP	C3N-01415_NB	A	A																c.1317+2T>A		p.X439_splice	ENST00000378230		95	90	5	107	107	0	varscan-mutect	CEP104,splice_donor_variant,,ENST00000378230,NM_014704.3;CEP104,splice_donor_variant,,ENST00000443466,;CEP104,downstream_gene_variant,,ENST00000428079,;CEP104,intron_variant,,ENST00000460038,;CEP104,splice_donor_variant,,ENST00000494653,;CEP104,downstream_gene_variant,,ENST00000494951,;	T	ENST00000378230	Transcript	splice_donor_variant	-/6424	1317/2778	439/925			rs770445221	1		-1	CEP104	HGNC	HGNC:24866	protein_coding	YES	CCDS30571.1	ENSP00000367476	O60308		UPI0000139AA8	NM_014704.3				10/21																		HIGH	1	SNV	5			1										PASS		rs770445221	.												T	5	4	78	3836493	3836493	A	T	1	0	0	0	0	0	0	1	0	2954	405	14	4		4	CEP104	1	3836493	Splice_Site	SNP	A	C3N-01415_TP	83701	3836493	245119929	4	25290											
AJAP1	0	.	GRCh38	chr1	4769933	4769933	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcacaactcttgtcttaAaaaattggtaaggctccttg	12	14	6	9	0	4	0	2	0	2	0	5	0	5	0	1	2	1	2	1	2	5	5	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.910A>C	p.Lys304Gln	p.K304Q	ENST00000378191	3/6	337	307	30	342	340	2	strelka-varscan-mutect	AJAP1,missense_variant,p.Lys304Gln,ENST00000378191,NM_018836.3;AJAP1,missense_variant,p.Lys304Gln,ENST00000378190,NM_001042478.1;	C	ENST00000378191	Transcript	missense_variant	1291/11666	910/1236	304/411	K/Q	Aaa/Caa		1		1	AJAP1	HGNC	HGNC:30801	protein_coding	YES	CCDS54.1	ENSP00000367433	Q9UKB5		UPI00000728B8	NM_018836.3	deleterious(0)		3/6		Transmembrane_helices:TMhelix,hmmpanther:PTHR32422,Pfam_domain:PF15298																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	4769933	4769933	A	C	1	0	0	0	0	1	0	0	0	516	15	1	5		5	AJAP1	1	4769933	Missense_Mutation	SNP	A	C3N-01415_TP	933440	4769933	244186489	5	25291											
GPR153	0	.	GRCh38	chr1	6254830	6254830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgctgaggatgccccaggCattggccagcagggagaggc	10	4	16	11	1	0	2	0	1	0	1	0	4	0	3	3	5	3	3	3	5	1	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.76G>T	p.Ala26Ser	p.A26S	ENST00000377893	2/6	96	82	14	110	110	0	strelka-varscan-mutect	GPR153,missense_variant,p.Ala26Ser,ENST00000377893,NM_207370.2;	A	ENST00000377893	Transcript	missense_variant	336/4082	76/1830	26/609	A/S	Gcc/Tcc		1		-1	GPR153	HGNC	HGNC:23618	protein_coding	YES	CCDS64.1	ENSP00000367125	Q6NV75	A0A0I9QQ03	UPI000040E9D7	NM_207370.2	tolerated(0.19)		2/6		Gene3D:1.20.1070.10,Prints_domain:PR01991,PROSITE_profiles:PS50262,hmmpanther:PTHR16518,hmmpanther:PTHR16518:SF5,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	6254830	6254830	C	A	1	0	0	0	0	1	0	0	0	6545	710	25	2		2	GPR153	1	6254830	Missense_Mutation	SNP	C	C3N-01415_TP	1484897	6254830	242701592	6	25292											
PRAMEF6	0	.	GRCh38	chr1	12939094	12939094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatttggagaggcacaaGactgtaattggtcagtctga	13	10	13	5	0	2	4	1	1	1	3	2	6	2	4	0	3	0	2	0	3	3	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1012C>A	p.Leu338Ile	p.L338I	ENST00000376189	4/4	81	63	18	95	95	0	varscan-mutect	PRAMEF6,missense_variant,p.Leu338Ile,ENST00000376189,NM_001010889.2;PRAMEF6,missense_variant,p.Leu338Ile,ENST00000415464,;	T	ENST00000376189	Transcript	missense_variant	1098/1720	1012/1431	338/476	L/I	Ctt/Att		1		-1	PRAMEF6	HGNC	HGNC:30583	protein_coding	YES	CCDS30594.1	ENSP00000365360	Q5VXH4		UPI0000418E57	NM_001010889.2	tolerated(0.26)		4/4		Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF19,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	12939094	12939094	G	T	1	0	0	0	0	1	0	0	0	12568	942	33	2		2	PRAMEF6	1	12939094	Missense_Mutation	SNP	G	C3N-01415_TP	6684264	12939094	236017328	7	25293											
PRAMEF19	0	.	GRCh38	chr1	13371197	13371197	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaaattctcatcaacatcCcgcatttccagcacttgaag	14	10	4	13	1	2	1	2	1	1	0	5	1	4	1	2	0	2	2	2	0	4	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.111G>T	p.=	p.R37R	ENST00000376101	2/3	699	642	57	729	729	0	varscan-mutect	PRAMEF19,synonymous_variant,p.=,ENST00000376101,;	A	ENST00000376101	Transcript	synonymous_variant	111/1233	111/1233	37/410	R	cgG/cgT		1		-1	PRAMEF19	HGNC	HGNC:24908	protein_coding	YES		ENSP00000365269	Q5SWL8		UPI0001661E5E				2/3		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF5,PIRSF_domain:PIRSF038286																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	78	13371197	13371197	C	A	1	0	0	0	0	0	0	0	1	12561	610	22	2		2	PRAMEF19	1	13371197	Silent	SNP	C	C3N-01415_TP	432103	13371197	235585225	8	25294											
PRAMEF17	0	.	GRCh38	chr1	13392207	13392207	+	Missense_Mutation	SNP	C	C	A																															gcctgccctgagccgctgctCccagctcaccaccttctact																								novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1130C>A	p.Ser377Tyr	p.S377Y	ENST00000376098	3/3	693	551	142	795	795	0	strelka-varscan-mutect	PRAMEF17,missense_variant,p.Ser377Tyr,ENST00000376098,NM_001099851.3;	A	ENST00000376098	Transcript	missense_variant	1156/1578	1130/1425	377/474	S/Y	tCc/tAc		1		1	PRAMEF17	HGNC	HGNC:29485	protein_coding	YES	CCDS41264.1	ENSP00000365266	Q5VTA0		UPI0000458AD3	NM_001099851.3	tolerated(0.08)		3/3		Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF32,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		rs1427336147	.												A	3	1	78	13392207	13392207	C	A	1	0	0	0	0	1	0	0	0	12560	855	30	2		2	PRAMEF17	1	13392207	Missense_Mutation	SNP	C	C3N-01415_TP	21010	13392207	235564215	9	25295	532	2									
PRAMEF17	0	.	GRCh38	chr1	13392208	13392208	+	Silent	SNP	C	C	A																															cctgccctgagccgctgctcCcagctcaccaccttctactt																								novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1131C>A	p.=	p.S377S	ENST00000376098	3/3	699	560	139	797	797	0	strelka-varscan-mutect	PRAMEF17,synonymous_variant,p.=,ENST00000376098,NM_001099851.3;	A	ENST00000376098	Transcript	synonymous_variant	1157/1578	1131/1425	377/474	S	tcC/tcA		1		1	PRAMEF17	HGNC	HGNC:29485	protein_coding	YES	CCDS41264.1	ENSP00000365266	Q5VTA0		UPI0000458AD3	NM_001099851.3			3/3		Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF32,Superfamily_domains:SSF52047																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	13392208	13392208	C	A	1	0	0	0	0	0	0	0	1	12560	610	22	2		2	PRAMEF17	1	13392208	Silent	SNP	C	C3N-01415_TP	1	13392208	235564214	10	25296	532	2									
COL16A1	0	.	GRCh38	chr1	31689074	31689074	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctttgatgccttggatGccagggtctccctgcagggt	4	13	12	12	0	2	1	0	1	2	0	4	2	2	2	4	3	3	1	4	3	0	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1632C>G	p.=	p.G544G	ENST00000373672	24/71	283	224	59	269	269	0	strelka-varscan-mutect	COL16A1,synonymous_variant,p.=,ENST00000373672,NM_001856.3;COL16A1,synonymous_variant,p.=,ENST00000373668,;COL16A1,synonymous_variant,p.=,ENST00000373667,;COL16A1,non_coding_transcript_exon_variant,,ENST00000482478,;COL16A1,non_coding_transcript_exon_variant,,ENST00000474000,;COL16A1,non_coding_transcript_exon_variant,,ENST00000529928,;	C	ENST00000373672	Transcript	synonymous_variant	2149/5736	1632/4815	544/1604	G	ggC/ggG		1		-1	COL16A1	HGNC	HGNC:2193	protein_coding	YES	CCDS41297.1	ENSP00000362776	Q07092		UPI0000203DD1	NM_001856.3			24/71		hmmpanther:PTHR24023:SF372,hmmpanther:PTHR24023																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	78	31689074	31689074	G	C	1	0	0	0	0	0	0	0	1	3461	1306	46	4		4	COL16A1	1	31689074	Silent	SNP	G	C3N-01415_TP	18296866	31689074	217267348	11	25297											
CSMD2	0	.	GRCh38	chr1	33540581	33540581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctcacaggtgaacaccGcgggcagggagagctggtac	9	6	14	12	2	1	2	1	1	0	1	2	3	2	2	2	4	3	3	2	4	2	2	rs146014963		C3N-01415_TP	C3N-01415_NB	G	G																c.9575C>T	p.Ala3192Val	p.A3192V	ENST00000373381	60/71	277	239	38	329	329	0	strelka-varscan-mutect	CSMD2,missense_variant,p.Ala3192Val,ENST00000373381,NM_001281956.1;CSMD2,missense_variant,p.Ala3152Val,ENST00000619121,;CSMD2,missense_variant,p.Ala3048Val,ENST00000373388,NM_052896.4;CSMD2,missense_variant,p.Ala3048Val,ENST00000241312,;	A	ENST00000373381	Transcript	missense_variant	9752/13698	9575/10896	3192/3631	A/V	gCg/gTg	rs146014963	1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1	deleterious(0)		60/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF371,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		rs146014963	.												A	3	1	78	33540581	33540581	G	A	1	0	0	0	0	1	0	0	0	3746	1087	38	1		1	CSMD2	1	33540581	Missense_Mutation	SNP	G	C3N-01415_TP	1851507	33540581	215415841	12	25298											
PSMB2	0	.	GRCh38	chr1	35609300	35609300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaaggcaccatagccgtGggctgcaaaaggggccttgg	10	5	16	10	1	0	0	0	0	0	0	0	1	0	1	3	6	2	3	3	6	4	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.394C>T	p.His132Tyr	p.H132Y	ENST00000373237	4/6	141	120	21	144	144	0	strelka-varscan-mutect	PSMB2,missense_variant,p.His15Tyr,ENST00000621781,NM_001199780.1;PSMB2,missense_variant,p.His132Tyr,ENST00000373237,NM_001199779.1,NM_002794.4;PSMB2,non_coding_transcript_exon_variant,,ENST00000630477,;	A	ENST00000373237	Transcript	missense_variant	806/2701	394/606	132/201	H/Y	Cac/Tac		1		-1	PSMB2	HGNC	HGNC:9539	protein_coding	YES	CCDS394.1	ENSP00000362334	P49721	A0A140VJS6	UPI0000111E4C	NM_001199779.1,NM_002794.4	deleterious(0)		4/6		Gene3D:3.60.20.10,Pfam_domain:PF00227,PROSITE_profiles:PS51476,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF6,Superfamily_domains:SSF56235																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	35609300	35609300	G	A	1	0	0	0	0	1	0	0	0	12828	1348	47	3		3	PSMB2	1	35609300	Missense_Mutation	SNP	G	C3N-01415_TP	2068719	35609300	213347122	13	25299											
NASP	0	.	GRCh38	chr1	45607473	45607473	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggaagagaagatatggatAtaagtaaatctgcagaggag	17	8	14	2	0	1	3	0	0	1	3	1	7	1	6	0	3	1	2	0	3	7	4	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.562A>T	p.Ile188Leu	p.I188L	ENST00000350030	6/15	210	180	30	234	234	0	strelka-varscan-mutect	NASP,missense_variant,p.Ile188Leu,ENST00000350030,NM_002482.3;NASP,missense_variant,p.Ile124Leu,ENST00000537798,NM_001195193.1;NASP,missense_variant,p.Ile151Leu,ENST00000470768,;NASP,missense_variant,p.Ile124Leu,ENST00000527470,;NASP,intron_variant,,ENST00000351223,NM_152298.3;NASP,intron_variant,,ENST00000372052,;NASP,intron_variant,,ENST00000528238,;NASP,intron_variant,,ENST00000437901,;NASP,intron_variant,,ENST00000525515,;NASP,non_coding_transcript_exon_variant,,ENST00000534101,;NASP,upstream_gene_variant,,ENST00000530073,;NASP,3_prime_UTR_variant,,ENST00000453748,;NASP,3_prime_UTR_variant,,ENST00000529333,;NASP,intron_variant,,ENST00000437362,;NASP,intron_variant,,ENST00000527359,;NASP,upstream_gene_variant,,ENST00000481782,;NASP,downstream_gene_variant,,ENST00000464190,;NASP,downstream_gene_variant,,ENST00000531532,;NASP,downstream_gene_variant,,ENST00000528084,;AL355480.4,upstream_gene_variant,,ENST00000626823,;	T	ENST00000350030	Transcript	missense_variant	649/3207	562/2367	188/788	I/L	Ata/Tta		1		1	NASP	HGNC	HGNC:7644	protein_coding	YES	CCDS524.1	ENSP00000255120	P49321		UPI000012FDA0	NM_002482.3	tolerated_low_confidence(0.17)		6/15		hmmpanther:PTHR15081,hmmpanther:PTHR15081:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	45607473	45607473	A	T	1	0	0	0	0	1	0	0	0	10181	449	16	4		4	NASP	1	45607473	Missense_Mutation	SNP	A	C3N-01415_TP	9998173	45607473	203348949	14	25300											
GLIS1	0	.	GRCh38	chr1	53529932	53529932	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggttctccagccgtgagaaGgccttgctgcagccttcaaa	9	9	11	12	1	2	1	1	1	1	1	3	2	2	1	4	2	4	3	4	2	2	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.816C>A	p.=	p.A272A	ENST00000312233	4/10	176	142	34	143	142	1	strelka-varscan-mutect	GLIS1,synonymous_variant,p.=,ENST00000312233,NM_147193.2;GLIS1,synonymous_variant,p.=,ENST00000628545,;	T	ENST00000312233	Transcript	synonymous_variant	1383/2812	816/1863	272/620	A	gcC/gcA		1		-1	GLIS1	HGNC	HGNC:29525	protein_coding	YES	CCDS582.1	ENSP00000309653	Q8NBF1		UPI000013F293	NM_147193.2			4/10		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF93,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	78	53529932	53529932	G	T	1	0	0	0	0	0	0	0	1	6323	987	35	2		2	GLIS1	1	53529932	Silent	SNP	G	C3N-01415_TP	7922459	53529932	195426490	15	25301											
MROH7	0	.	GRCh38	chr1	54653756	54653756	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagttcaaaggaaaccatgaAtgtggcttccagcggccact	13	8	10	10	1	1	1	1	1	0	0	2	2	2	2	3	3	2	2	3	3	4	2	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.830A>T	p.Asn277Ile	p.N277I	ENST00000421030	3/24	302	240	62	380	379	1	strelka-varscan-mutect	MROH7,missense_variant,p.Asn277Ile,ENST00000421030,NM_001039464.3;MROH7,missense_variant,p.Asn277Ile,ENST00000339553,;MROH7,missense_variant,p.Asn277Ile,ENST00000395690,;MROH7,intron_variant,,ENST00000409996,NM_001291332.1;MROH7,non_coding_transcript_exon_variant,,ENST00000472987,;MROH7,intron_variant,,ENST00000478097,;MROH7-TTC4,missense_variant,p.Asn277Ile,ENST00000425300,;MROH7-TTC4,missense_variant,p.Asn277Ile,ENST00000414150,;MROH7-TTC4,missense_variant,p.Asn277Ile,ENST00000606515,;MROH7,missense_variant,p.Asn277Ile,ENST00000413188,;MROH7,missense_variant,p.Asn277Ile,ENST00000422659,;MROH7,missense_variant,p.Asn277Ile,ENST00000440047,;MROH7,missense_variant,p.Asn277Ile,ENST00000438846,;MROH7,upstream_gene_variant,,ENST00000440217,;	T	ENST00000421030	Transcript	missense_variant	1115/4329	830/3972	277/1323	N/I	aAt/aTt		1		1	MROH7	HGNC	HGNC:24802	protein_coding	YES	CCDS41342.2	ENSP00000396622	Q68CQ1		UPI000198C4E2	NM_001039464.3	deleterious_low_confidence(0)		3/24																			MODERATE	1	SNV	2			1										PASS		rs1044440310	.												T	3	4	78	54653756	54653756	A	T	1	0	0	0	0	1	0	0	0	9747	101	4	4		4	MROH7	1	54653756	Missense_Mutation	SNP	A	C3N-01415_TP	1123824	54653756	194302666	16	25302											
HOOK1	0	.	GRCh38	chr1	59872819	59872819	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcattccagaaactggggAtggaatctagacttgtgagc	12	10	12	7	0	1	3	0	1	1	2	2	5	2	5	1	3	3	1	1	3	4	4	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.2041A>T	p.Met681Leu	p.M681L	ENST00000371208	22/22	63	57	6	62	62	0	strelka-mutect	HOOK1,missense_variant,p.Met681Leu,ENST00000371208,NM_015888.4;HOOK1,non_coding_transcript_exon_variant,,ENST00000465876,;HOOK1,non_coding_transcript_exon_variant,,ENST00000466803,;HOOK1,non_coding_transcript_exon_variant,,ENST00000491135,;	T	ENST00000371208	Transcript	missense_variant	2298/5857	2041/2187	681/728	M/L	Atg/Ttg		1		1	HOOK1	HGNC	HGNC:19884	protein_coding	YES	CCDS612.1	ENSP00000360252	Q9UJC3		UPI0000071E61	NM_015888.4	tolerated(0.2)		22/22		Pfam_domain:PF05622,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF36																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	59872819	59872819	A	T	1	0	0	0	0	1	0	0	0	7176	333	12	4		4	HOOK1	1	59872819	Missense_Mutation	SNP	A	C3N-01415_TP	5219063	59872819	189083603	17	25303											
LEPR	0	.	GRCh38	chr1	65601549	65601549	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagccagtatgatgttgtGagtgatcatgttagcaaagt	13	12	11	5	0	1	3	1	3	0	0	1	3	1	3	1	0	2	4	1	0	4	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1152G>T	p.=	p.V384V	ENST00000349533	9/20	548	466	82	569	569	0	strelka-varscan-mutect	LEPR,synonymous_variant,p.=,ENST00000349533,NM_002303.5;LEPR,synonymous_variant,p.=,ENST00000371060,NM_001003679.3;LEPR,synonymous_variant,p.=,ENST00000616738,NM_001198689.1;LEPR,synonymous_variant,p.=,ENST00000371059,NM_001003680.3,NM_001198687.1;LEPR,synonymous_variant,p.=,ENST00000344610,NM_001198688.1;LEPR,synonymous_variant,p.=,ENST00000371058,;LEPR,intron_variant,,ENST00000406510,;LEPR,non_coding_transcript_exon_variant,,ENST00000462765,;	T	ENST00000349533	Transcript	synonymous_variant	1337/8227	1152/3498	384/1165	V	gtG/gtT		1		1	LEPR	HGNC	HGNC:6554	protein_coding	YES	CCDS631.1	ENSP00000330393	P48357		UPI000014C37B	NM_002303.5			9/20		PROSITE_profiles:PS50835,Pfam_domain:PF06328,Gene3D:2.60.40.10																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	65601549	65601549	G	T	1	0	0	0	0	0	0	0	1	8636	1277	45	2		2	LEPR	1	65601549	Silent	SNP	G	C3N-01415_TP	5728730	65601549	183354873	18	25304											
FPGT	0	.	GRCh38	chr1	74204973	74204973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgactttctgcaggctttggGacctggagcaactgtggagt	7	12	14	8	0	1	1	0	1	1	0	1	4	1	4	1	4	3	3	1	4	1	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.965G>T	p.Gly322Val	p.G322V	ENST00000370898	4/4	305	283	22	392	392	0	strelka-varscan-mutect	FPGT,missense_variant,p.Gly322Val,ENST00000370898,NM_003838.4;FPGT-TNNI3K,intron_variant,,ENST00000370895,;FPGT-TNNI3K,intron_variant,,ENST00000557284,NM_001112808.2;FPGT-TNNI3K,intron_variant,,ENST00000370899,NM_001199327.1;FPGT,intron_variant,,ENST00000534056,NM_001199328.2;FPGT,intron_variant,,ENST00000370894,NM_001199329.2;FPGT-TNNI3K,intron_variant,,ENST00000370893,;FPGT-TNNI3K,intron_variant,,ENST00000534632,;FPGT,downstream_gene_variant,,ENST00000467578,;FPGT,downstream_gene_variant,,ENST00000482102,;FPGT,downstream_gene_variant,,ENST00000472069,;FPGT,intron_variant,,ENST00000524915,;FPGT-TNNI3K,intron_variant,,ENST00000533006,;FPGT,downstream_gene_variant,,ENST00000529485,;	T	ENST00000370898	Transcript	missense_variant	993/3254	965/1824	322/607	G/V	gGa/gTa		1		1	FPGT	HGNC	HGNC:3825	protein_coding	YES	CCDS663.2	ENSP00000359935		A0A0A0MRP2	UPI0003348FC3	NM_003838.4	deleterious(0)		4/4		Pfam_domain:PF07959,PIRSF_domain:PIRSF036640,hmmpanther:PTHR15045																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	74204973	74204973	G	T	1	0	0	0	0	1	0	0	0	5903	1174	41	2		2	FPGT	1	74204973	Missense_Mutation	SNP	G	C3N-01415_TP	8603424	74204973	174751449	19	25305											
CRYZ	0	.	GRCh38	chr1	74724767	74724767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgcaatttcaggacttctgGcccaccaaattcaaaaactc	13	10	5	13	1	3	0	2	0	1	0	5	1	3	1	2	2	1	1	2	2	4	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.55C>T	p.Pro19Ser	p.P19S	ENST00000417775	3/10	259	235	24	305	303	2	strelka-varscan-mutect	CRYZ,missense_variant,p.Pro19Ser,ENST00000417775,NM_001130042.1;CRYZ,missense_variant,p.Pro19Ser,ENST00000340866,NM_001889.3;CRYZ,missense_variant,p.Pro19Ser,ENST00000370871,NM_001130043.1;CRYZ,missense_variant,p.Pro19Ser,ENST00000370870,;CRYZ,missense_variant,p.Pro19Ser,ENST00000441120,;CRYZ,intron_variant,,ENST00000370872,NM_001134759.1;	A	ENST00000417775	Transcript	missense_variant	560/2301	55/990	19/329	P/S	Cca/Tca		1		-1	CRYZ	HGNC	HGNC:2419	protein_coding	YES	CCDS665.1	ENSP00000399805	Q08257		UPI0000001C81	NM_001130042.1	deleterious(0)		3/10		Gene3D:3.90.180.10,SMART_domains:SM00829,Superfamily_domains:SSF50129																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	74724767	74724767	G	A	1	0	0	0	0	1	0	0	0	3724	1203	42	3		3	CRYZ	1	74724767	Missense_Mutation	SNP	G	C3N-01415_TP	519794	74724767	174231655	20	25306											
ADGRL4	0	.	GRCh38	chr1	79005120	79005120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcccatgttgcaatagcagGcttcaattccattgcgtatt	10	14	7	10	1	1	0	1	0	0	0	3	0	3	0	2	1	3	5	2	1	4	7	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.122C>G	p.Ala41Gly	p.A41G	ENST00000370742	2/15	210	174	36	259	259	0	strelka-varscan-mutect	ADGRL4,missense_variant,p.Ala41Gly,ENST00000370742,NM_022159.3;	C	ENST00000370742	Transcript	missense_variant	186/3527	122/2073	41/690	A/G	gCc/gGc		1		-1	ADGRL4	HGNC	HGNC:20822	protein_coding	YES	CCDS41352.1	ENSP00000359778	Q9HBW9		UPI00004561FF	NM_022159.3	tolerated_low_confidence(0.74)		2/15		PROSITE_profiles:PS50026,hmmpanther:PTHR12011:SF59,hmmpanther:PTHR12011,Gene3D:2.10.25.10,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	79005120	79005120	G	C	1	0	0	0	0	1	0	0	0	378	1203	42	4		4	ADGRL4	1	79005120	Missense_Mutation	SNP	G	C3N-01415_TP	4280353	79005120	169951302	21	25307											
BARHL2	0	.	GRCh38	chr1	90716879	90716879	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgttggggcaaaggcTgcaaactttgcgtcggggcc	6	9	16	10	2	0	0	0	0	0	0	1	0	0	0	1	5	4	6	1	5	2	2	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.317A>C	p.Gln106Pro	p.Q106P	ENST00000370445	1/3	269	248	21	303	303	0	strelka-varscan-mutect	BARHL2,missense_variant,p.Gln106Pro,ENST00000370445,NM_020063.1;	G	ENST00000370445	Transcript	missense_variant	359/1979	317/1164	106/387	Q/P	cAg/cCg		1		-1	BARHL2	HGNC	HGNC:954	protein_coding	YES	CCDS730.1	ENSP00000359474	Q9NY43		UPI00001B50ED	NM_020063.1	tolerated_low_confidence(0.41)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24330:SF4,hmmpanther:PTHR24330																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	90716879	90716879	T	G	1	0	0	0	0	1	0	0	0	1466	1580	55	5		5	BARHL2	1	90716879	Missense_Mutation	SNP	T	C3N-01415_TP	11711759	90716879	158239543	22	25308											
DPYD	0	.	GRCh38	chr1	97691760	97691760	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcaatctcaaaattcactAcatcatacggcagccggaac	14	8	6	13	2	4	0	4	0	1	0	5	1	4	1	1	2	4	2	1	2	6	3	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.719T>A	p.Val240Glu	p.V240E	ENST00000370192	7/23	503	441	62	532	532	0	strelka-varscan-mutect	DPYD,missense_variant,p.Val240Glu,ENST00000370192,NM_000110.3;DPYD,non_coding_transcript_exon_variant,,ENST00000474241,;	T	ENST00000370192	Transcript	missense_variant	820/4412	719/3078	240/1025	V/E	gTa/gAa		1		-1	DPYD	HGNC	HGNC:3012	protein_coding	YES	CCDS30777.1	ENSP00000359211	Q12882		UPI00000727C7	NM_000110.3	tolerated(0.17)		7/23		hmmpanther:PTHR11938,hmmpanther:PTHR11938:SF5,Gene3D:3.50.50.60,Pfam_domain:PF07992,Superfamily_domains:SSF51971																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	97691760	97691760	A	T	1	0	0	0	0	1	0	0	0	4560	391	14	4		4	DPYD	1	97691760	Missense_Mutation	SNP	A	C3N-01415_TP	6974881	97691760	151264662	23	25309											
PLPPR5	0	.	GRCh38	chr1	99004595	99004595	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatactcgaagtagtacgccAgcatcaccgtccctgccatg	10	9	8	14	3	1	0	1	0	0	0	3	1	2	0	4	0	4	3	4	0	5	4	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.77T>C	p.Leu26Pro	p.L26P	ENST00000263177	1/6	375	337	38	310	310	0	strelka-varscan-mutect	PLPPR5,missense_variant,p.Leu26Pro,ENST00000370188,NM_001010861.2;PLPPR5,missense_variant,p.Leu26Pro,ENST00000263177,NM_001037317.1;RP5-896L10.1,non_coding_transcript_exon_variant,,ENST00000425113,;PLPPR5,upstream_gene_variant,,ENST00000534652,;RP11-234N17.1,upstream_gene_variant,,ENST00000457507,;	G	ENST00000263177	Transcript	missense_variant	299/3288	77/966	26/321	L/P	cTg/cCg		1		-1	PLPPR5	HGNC	HGNC:31703	protein_coding	YES	CCDS30778.1	ENSP00000263177	Q32ZL2		UPI0000048D53	NM_001037317.1	deleterious(0)		1/6		hmmpanther:PTHR10165,hmmpanther:PTHR10165:SF17,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs757739352	.												G	3	3	78	99004595	99004595	A	G	1	0	0	0	0	1	0	0	0	12213	188	7	5		5	PLPPR5	1	99004595	Missense_Mutation	SNP	A	C3N-01415_TP	1312835	99004595	149951827	24	25310											
GDAP2	0	.	GRCh38	chr1	117920329	117920329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagtgtatccacatccacaAactgggaaggtgcacctaag	13	8	10	10	0	0	0	0	0	0	0	2	1	2	1	3	2	2	3	3	2	5	3	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.29T>C	p.Phe10Ser	p.F10S	ENST00000369443	2/14	169	149	20	161	161	0	strelka-varscan-mutect	GDAP2,missense_variant,p.Phe10Ser,ENST00000369443,NM_017686.3;GDAP2,missense_variant,p.Phe10Ser,ENST00000369442,NM_001135589.2;GDAP2,non_coding_transcript_exon_variant,,ENST00000494224,;GDAP2,upstream_gene_variant,,ENST00000493555,;	G	ENST00000369443	Transcript	missense_variant	279/8828	29/1494	10/497	F/S	tTt/tCt		1		-1	GDAP2	HGNC	HGNC:18010	protein_coding	YES	CCDS897.1	ENSP00000358451	Q9NXN4		UPI0000071019	NM_017686.3	deleterious(0.04)		2/14		hmmpanther:PTHR11106,hmmpanther:PTHR11106:SF72																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	78	117920329	117920329	A	G	1	0	0	0	0	1	0	0	0	6181	14	1	5		5	GDAP2	1	117920329	Missense_Mutation	SNP	A	C3N-01415_TP	18915734	117920329	131036093	25	25311											
BCL9	0	.	GRCh38	chr1	147613047	147613047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagtgggggccatacccCtaaagcactccctggcccag	10	5	11	15	0	0	1	0	0	0	1	1	1	1	1	5	3	2	1	5	3	4	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.218C>T	p.Pro73Leu	p.P73L	ENST00000234739	5/10	142	114	28	118	118	0	strelka-varscan-mutect	BCL9,missense_variant,p.Pro73Leu,ENST00000234739,NM_004326.3;BCL9,intron_variant,,ENST00000473292,;BCL9,downstream_gene_variant,,ENST00000497938,;	T	ENST00000234739	Transcript	missense_variant	958/6278	218/4281	73/1426	P/L	cCt/cTt		1		1	BCL9	HGNC	HGNC:1008	protein_coding	YES	CCDS30833.1	ENSP00000234739	O00512	A0A024QYY4	UPI000013C9B9	NM_004326.3	deleterious(0.03)		5/10		hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	147613047	147613047	C	T	1	0	0	0	0	1	0	0	0	1528	681	24	3		3	BCL9	1	147613047	Missense_Mutation	SNP	C	C3N-01415_TP	29692718	147613047	101343375	26	25312											
HIST2H2BE	0	.	GRCh38	chr1	149886273	149886273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagggactcacttggagctgGtgtacttggtgaccgccttg	6	11	14	10	1	1	1	1	1	0	0	1	3	1	3	2	4	2	2	2	4	1	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.368C>A	p.Thr123Asn	p.T123N	ENST00000369155	1/1	574	498	76	528	528	0	strelka-varscan-mutect	HIST2H2BE,missense_variant,p.Thr123Asn,ENST00000369155,NM_003528.2;BOLA1,upstream_gene_variant,,ENST00000369153,;HIST2H2AB,downstream_gene_variant,,ENST00000331128,NM_175065.2;HIST2H2AC,upstream_gene_variant,,ENST00000331380,NM_003517.2;	T	ENST00000369155	Transcript	missense_variant	380/2194	368/381	123/126	T/N	aCc/aAc		1		-1	HIST2H2BE	HGNC	HGNC:4760	protein_coding	YES	CCDS936.1	ENSP00000358151	Q16778		UPI0000000C6F	NM_003528.2	deleterious_low_confidence(0.02)		1/1		hmmpanther:PTHR23428,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113																	MODERATE		SNV				1										PASS		.	.												T	3	4	78	149886273	149886273	G	T	1	0	0	0	0	1	0	0	0	7067	1261	44	2		2	HIST2H2BE	1	149886273	Missense_Mutation	SNP	G	C3N-01415_TP	2273226	149886273	99070149	27	25313											
TDRKH	0	.	GRCh38	chr1	151778961	151778961	+	Frame_Shift_Del	DEL	T	T	-																															ttctgcagaatgagcaattcTcttccgaagttcttcatctt																								novel		C3N-01415_TP	C3N-01415_NB	T	T																c.607delA	p.Arg203GlufsTer18	p.R203Efs*18	ENST00000368822	6/14	222	176	46	341	341	0	sindel-varindel	TDRKH,frameshift_variant,p.Arg203GlufsTer18,ENST00000368822,;TDRKH,frameshift_variant,p.Arg203GlufsTer18,ENST00000368824,NM_001083965.1;TDRKH,frameshift_variant,p.Arg203GlufsTer18,ENST00000458431,NM_001083963.1;TDRKH,frameshift_variant,p.Arg199GlufsTer18,ENST00000368823,;TDRKH,frameshift_variant,p.Arg158GlufsTer18,ENST00000368825,NM_001083964.1;TDRKH,frameshift_variant,p.Arg203GlufsTer18,ENST00000368827,NM_006862.3;TDRKH,frameshift_variant,p.Arg203GlufsTer18,ENST00000440583,;TDRKH,downstream_gene_variant,,ENST00000526378,;TDRKH,non_coding_transcript_exon_variant,,ENST00000484421,;TDRKH,3_prime_UTR_variant,,ENST00000525790,;TDRKH,3_prime_UTR_variant,,ENST00000526413,;TDRKH,downstream_gene_variant,,ENST00000486986,;TDRKH,downstream_gene_variant,,ENST00000494725,;TDRKH,downstream_gene_variant,,ENST00000530202,;TDRKH,downstream_gene_variant,,ENST00000463553,;	-	ENST00000368822	Transcript	frameshift_variant	1241/3093	607/1686	203/561	R/X	Aga/ga		1		-1	TDRKH	HGNC	HGNC:11713	protein_coding	YES	CCDS41394.1	ENSP00000357812	Q9Y2W6		UPI0000204267				6/14		hmmpanther:PTHR22948,Gene3D:3.30.1370.10,Superfamily_domains:SSF54791																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	78	151778961	151778961	T	-	1	0	1	0	1	0	0	0	0	16147	1559	54	0		0	TDRKH	1	151778961	Frame_Shift_Del	DEL	T	C3N-01415_TP	1892688	151778961	97177461	28	25314	533	2									
TDRKH	0	.	GRCh38	chr1	151778963	151778963	+	Missense_Mutation	SNP	T	T	C																															ctgcagaatgagcaattctcTtccgaagttcttcatcttct																								novel		C3N-01415_TP	C3N-01415_NB	T	T																c.605A>G	p.Lys202Arg	p.K202R	ENST00000368822	6/14	258	204	54	336	336	0	strelka-mutect	TDRKH,missense_variant,p.Lys202Arg,ENST00000368822,;TDRKH,missense_variant,p.Lys202Arg,ENST00000368824,NM_001083965.1;TDRKH,missense_variant,p.Lys202Arg,ENST00000458431,NM_001083963.1;TDRKH,missense_variant,p.Lys198Arg,ENST00000368823,;TDRKH,missense_variant,p.Lys157Arg,ENST00000368825,NM_001083964.1;TDRKH,missense_variant,p.Lys202Arg,ENST00000368827,NM_006862.3;TDRKH,missense_variant,p.Lys202Arg,ENST00000440583,;TDRKH,downstream_gene_variant,,ENST00000526378,;TDRKH,non_coding_transcript_exon_variant,,ENST00000484421,;TDRKH,3_prime_UTR_variant,,ENST00000525790,;TDRKH,3_prime_UTR_variant,,ENST00000526413,;TDRKH,downstream_gene_variant,,ENST00000486986,;TDRKH,downstream_gene_variant,,ENST00000494725,;TDRKH,downstream_gene_variant,,ENST00000530202,;TDRKH,downstream_gene_variant,,ENST00000463553,;	C	ENST00000368822	Transcript	missense_variant	1239/3093	605/1686	202/561	K/R	aAg/aGg		1		-1	TDRKH	HGNC	HGNC:11713	protein_coding	YES	CCDS41394.1	ENSP00000357812	Q9Y2W6		UPI0000204267		tolerated(0.21)		6/14		hmmpanther:PTHR22948,Gene3D:3.30.1370.10,Superfamily_domains:SSF54791																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	78	151778963	151778963	T	C	1	0	0	0	0	1	0	0	0	16147	1609	56	5		5	TDRKH	1	151778963	Missense_Mutation	SNP	T	C3N-01415_TP	2	151778963	97177459	29	25315	533	2									
FLG	0	.	GRCh38	chr1	152308746	152308746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttctgaatgtccctcaCtgtcactggcctgactacca	8	12	7	14	0	4	2	2	2	2	0	5	2	5	2	3	1	1	0	3	1	2	2	rs758506209		C3N-01415_TP	C3N-01415_NB	C	C																c.6140G>A	p.Ser2047Asn	p.S2047N	ENST00000368799	3/3	1277	1186	91	1284	1283	1	varscan-mutect	FLG,missense_variant,p.Ser2047Asn,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	T	ENST00000368799	Transcript	missense_variant	6176/12747	6140/12186	2047/4061	S/N	aGt/aAt	rs758506209	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	deleterious(0.04)		3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571,Pfam_domain:PF03516																	MODERATE	1	SNV	1			1										PASS		rs758506209	.												T	3	4	78	152308746	152308746	C	T	1	0	0	0	0	1	0	0	0	5784	565	20	3		3	FLG	1	152308746	Missense_Mutation	SNP	C	C3N-01415_TP	529783	152308746	96647676	30	25316											
IVL	0	.	GRCh38	chr1	152910326	152910326	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggacagctgaagcacccgGagcagcaggaggggcagctg	11	2	18	10	1	0	1	0	1	0	0	0	4	0	4	1	5	5	6	1	5	1	0	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.529G>T	p.Glu177Ter	p.E177*	ENST00000368764	2/2	192	173	19	189	189	0	varscan-mutect	IVL,stop_gained,p.Glu177Ter,ENST00000368764,NM_005547.2;	T	ENST00000368764	Transcript	stop_gained	593/2153	529/1758	177/585	E/*	Gag/Tag		1		1	IVL	HGNC	HGNC:6187	protein_coding	YES	CCDS1030.1	ENSP00000357753	P07476		UPI000013E24A	NM_005547.2			2/2		Pfam_domain:PF00904,Low_complexity_(Seg):seg																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	78	152910326	152910326	G	T	1	0	0	0	0	0	1	0	0	7835	1175	41	2		2	IVL	1	152910326	Nonsense_Mutation	SNP	G	C3N-01415_TP	601580	152910326	96046096	31	25317											
CHRNB2	0	.	GRCh38	chr1	154571351	154571351	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	accatgaagttccgttcgtgGacctacgaccgcacagagat	11	8	10	12	4	0	2	0	1	0	1	2	5	1	3	4	1	1	3	4	1	2	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.528G>C	p.Trp176Cys	p.W176C	ENST00000368476	5/6	666	587	79	603	603	0	strelka-varscan-mutect	CHRNB2,missense_variant,p.Trp176Cys,ENST00000368476,NM_000748.2;CHRNB2,missense_variant,p.Trp178Cys,ENST00000637900,;CHRNB2,missense_variant,p.Trp176Cys,ENST00000636034,;CHRNB2,downstream_gene_variant,,ENST00000636695,;	C	ENST00000368476	Transcript	missense_variant	792/5867	528/1509	176/502	W/C	tgG/tgC		1		1	CHRNB2	HGNC	HGNC:1962	protein_coding	YES	CCDS1070.1	ENSP00000357461	P17787	Q5SXY3	UPI000012526E	NM_000748.2	deleterious(0.01)		5/6		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF80,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	154571351	154571351	G	C	1	0	0	0	0	1	0	0	0	3151	1183	41	4		4	CHRNB2	1	154571351	Missense_Mutation	SNP	G	C3N-01415_TP	1661025	154571351	94385071	32	25318											
CD1D	0	.	GRCh38	chr1	158181540	158181540	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcaccgacggcttggcgtgGctgggggagctgcagacgca	6	5	18	12	5	0	1	0	0	0	1	0	3	0	2	1	5	2	6	1	5	0	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.147G>C	p.Trp49Cys	p.W49C	ENST00000368171	3/7	419	378	41	339	339	0	strelka-mutect	CD1D,missense_variant,p.Trp49Cys,ENST00000368171,NM_001766.3;ELL2P1,upstream_gene_variant,,ENST00000413990,;	C	ENST00000368171	Transcript	missense_variant	646/2253	147/1008	49/335	W/C	tgG/tgC		1		1	CD1D	HGNC	HGNC:1637	protein_coding	YES	CCDS1173.1	ENSP00000357153	P15813		UPI00000012B1	NM_001766.3	deleterious(0)		3/7		Gene3D:3.30.500.10,Pfam_domain:PF16497,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF175,Superfamily_domains:SSF54452																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	158181540	158181540	G	C	1	0	0	0	0	1	0	0	0	2680	1212	42	4		4	CD1D	1	158181540	Missense_Mutation	SNP	G	C3N-01415_TP	3610189	158181540	90774882	33	25319											
OR6P1	0	.	GRCh38	chr1	158563544	158563544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggagcagctggaggggagGcgtggtagggaaacccacca	11	3	19	8	1	0	0	0	0	0	0	0	5	0	4	2	7	3	3	2	7	2	1	rs373879280		C3N-01415_TP	C3N-01415_NB	G	G																c.61C>A	p.Pro21Thr	p.P21T	ENST00000334632	1/1	337	295	42	347	347	0	strelka-varscan-mutect	OR6P1,missense_variant,p.Pro21Thr,ENST00000334632,NM_001160325.1;	T	ENST00000334632	Transcript	missense_variant	61/954	61/954	21/317	P/T	Cct/Act	rs373879280	1		-1	OR6P1	HGNC	HGNC:15036	protein_coding	YES	CCDS53391.1	ENSP00000334721	Q8NGX9	A0A126GV72	UPI000004B1FF	NM_001160325.1	tolerated(0.43)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs373879280	.												T	3	4	78	158563544	158563544	G	T	1	0	0	0	0	1	0	0	0	11277	1203	42	2		2	OR6P1	1	158563544	Missense_Mutation	SNP	G	C3N-01415_TP	382004	158563544	90392878	34	25320											
SPTA1	0	.	GRCh38	chr1	158626941	158626941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tattgccttagccagagaagGggtcttttcattcagagcct	9	13	10	9	0	3	2	2	0	1	2	3	3	3	2	3	2	3	0	3	2	3	6	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.5731C>A	p.Pro1911Thr	p.P1911T	ENST00000368147	41/52	538	412	126	524	524	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Pro1911Thr,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000461624,;	T	ENST00000368147	Transcript	missense_variant	5912/7999	5731/7260	1911/2419	P/T	Cct/Act		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	tolerated(0.42)		41/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		rs1355504062	.												T	3	4	78	158626941	158626941	G	T	1	0	0	0	0	1	0	0	0	15472	1232	43	2		2	SPTA1	1	158626941	Missense_Mutation	SNP	G	C3N-01415_TP	63397	158626941	90329481	35	25321											
PYHIN1	0	.	GRCh38	chr1	158939183	158939183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggagccagcacgtccacagCcatgggccgttccccacctc	8	5	10	18	2	0	0	0	0	0	0	3	1	2	1	7	2	3	2	7	2	0	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.515C>A	p.Ala172Asp	p.A172D	ENST00000368140	4/9	174	137	37	163	163	0	strelka-varscan-mutect	PYHIN1,missense_variant,p.Ala172Asp,ENST00000368140,NM_152501.4;PYHIN1,missense_variant,p.Ala163Asp,ENST00000368138,NM_198928.4;PYHIN1,missense_variant,p.Ala172Asp,ENST00000368135,;PYHIN1,missense_variant,p.Ala172Asp,ENST00000392254,NM_198929.4;PYHIN1,missense_variant,p.Ala163Asp,ENST00000392252,NM_198930.3;PYHIN1,downstream_gene_variant,,ENST00000458222,;PYHIN1,upstream_gene_variant,,ENST00000485134,;	A	ENST00000368140	Transcript	missense_variant	760/2083	515/1479	172/492	A/D	gCc/gAc		1		1	PYHIN1	HGNC	HGNC:28894	protein_coding	YES	CCDS1178.1	ENSP00000357122	Q6K0P9		UPI0000225618	NM_152501.4	deleterious(0.04)		4/9		hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	158939183	158939183	C	A	1	0	0	0	0	1	0	0	0	13019	739	26	2		2	PYHIN1	1	158939183	Missense_Mutation	SNP	C	C3N-01415_TP	312242	158939183	90017239	36	25322											
APCS	0	.	GRCh38	chr1	159588614	159588614	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcctgtctgcctatcAgggtacccctctccctgcca	8	11	6	16	0	3	0	1	0	2	0	5	0	4	0	6	1	3	1	6	1	4	3	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.578A>T	p.Gln193Leu	p.Q193L	ENST00000255040	2/2	295	210	85	325	325	0	strelka-varscan-mutect	APCS,missense_variant,p.Gln193Leu,ENST00000255040,NM_001639.3;	T	ENST00000255040	Transcript	missense_variant	675/926	578/672	193/223	Q/L	cAg/cTg		1		1	APCS	HGNC	HGNC:584	protein_coding	YES	CCDS1186.1	ENSP00000255040	P02743	V9HWP0	UPI0000135533	NM_001639.3	tolerated(0.72)		2/2		hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF99,Pfam_domain:PF00354,Gene3D:2.60.120.200,SMART_domains:SM00159,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	159588614	159588614	A	T	1	0	0	0	0	1	0	0	0	887	188	7	4		4	APCS	1	159588614	Missense_Mutation	SNP	A	C3N-01415_TP	649431	159588614	89367808	37	25323											
IGSF9	0	.	GRCh38	chr1	159929649	159929649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacttaccttggcggaggCgcttgcggcggcggcgggca	4	6	20	11	6	0	0	0	0	0	0	0	2	0	2	1	8	2	2	1	8	1	3			C3N-01415_TP	C3N-01415_NB	C	C																c.2315G>A	p.Arg772His	p.R772H	ENST00000368094	17/21	108	92	16	96	96	0	strelka-varscan-mutect	IGSF9,missense_variant,p.Arg772His,ENST00000368094,NM_001135050.1;IGSF9,missense_variant,p.Arg756His,ENST00000361509,NM_020789.3;IGSF9,intron_variant,,ENST00000611023,;TAGLN2,upstream_gene_variant,,ENST00000368097,NM_003564.2;TAGLN2,upstream_gene_variant,,ENST00000397334,;IGSF9,non_coding_transcript_exon_variant,,ENST00000493195,;IGSF9,non_coding_transcript_exon_variant,,ENST00000476102,;IGSF9,non_coding_transcript_exon_variant,,ENST00000496645,;TAGLN2,upstream_gene_variant,,ENST00000478033,;	T	ENST00000368094	Transcript	missense_variant	2513/4044	2315/3540	772/1179	R/H	cGc/cAc	COSM4864722,COSM898103	1		-1	IGSF9	HGNC	HGNC:18132	protein_coding	YES	CCDS44254.1	ENSP00000357073	Q9P2J2		UPI000004A10B	NM_001135050.1	tolerated(0.07)		17/21		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF708,Low_complexity_(Seg):seg											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1340975643	.												T	3	4	78	159929649	159929649	C	T	1	0	0	0	0	1	0	0	0	7513	768	27	1		1	IGSF9	1	159929649	Missense_Mutation	SNP	C	C3N-01415_TP	341035	159929649	89026773	38	25324											
ILDR2	0	.	GRCh38	chr1	166921216	166921216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcccgcgactccgagcGctcgaagcggctcccgcccc	4	4	13	20	8	0	0	0	0	0	0	3	3	2	0	5	1	3	2	5	1	1	0	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1375C>G	p.Arg459Gly	p.R459G	ENST00000271417	9/10	151	102	49	147	146	1	strelka-varscan	ILDR2,missense_variant,p.Arg459Gly,ENST00000271417,NM_199351.2;ILDR2,missense_variant,p.Arg440Gly,ENST00000529071,;ILDR2,missense_variant,p.Arg400Gly,ENST00000528703,;ILDR2,missense_variant,p.Arg351Gly,ENST00000526687,;ILDR2,missense_variant,p.Arg332Gly,ENST00000525740,;ILDR2,intron_variant,,ENST00000469934,;ILDR2,intron_variant,,ENST00000529387,;ILDR2,upstream_gene_variant,,ENST00000614979,;	C	ENST00000271417	Transcript	missense_variant	1431/13140	1375/1920	459/639	R/G	Cgc/Ggc		1		-1	ILDR2	HGNC	HGNC:18131	protein_coding	YES	CCDS1256.1	ENSP00000271417	Q71H61		UPI00002317DF	NM_199351.2	deleterious(0.03)		9/10		hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	166921216	166921216	G	C	1	0	0	0	0	1	0	0	0	7613	1087	38	4		4	ILDR2	1	166921216	Missense_Mutation	SNP	G	C3N-01415_TP	6991567	166921216	82035206	39	25325											
F5	0	.	GRCh38	chr1	169540392	169540392	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaggtaccatgctgcaatGttgtcaggatctctggagga	9	10	14	8	1	2	0	1	0	1	0	3	4	2	4	1	5	3	4	1	5	2	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.4698C>A	p.Asn1566Lys	p.N1566K	ENST00000367797	13/25	385	316	69	425	425	0	strelka-varscan-mutect	F5,missense_variant,p.Asn1571Lys,ENST00000367796,;F5,missense_variant,p.Asn1566Lys,ENST00000367797,NM_000130.4;	T	ENST00000367797	Transcript	missense_variant	4900/7024	4698/6675	1566/2224	N/K	aaC/aaA		1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4	tolerated(0.13)		13/25		PIRSF_domain:PIRSF000354																	MODERATE	1	SNV	1			1										PASS		rs921390554	.												T	3	4	78	169540392	169540392	G	T	1	0	0	0	0	1	0	0	0	5216	1368	48	2		2	F5	1	169540392	Missense_Mutation	SNP	G	C3N-01415_TP	2619176	169540392	79416030	40	25326											
TNN	0	.	GRCh38	chr1	175083770	175083770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgctgtgcttggcactGcctgggtgacagatgagact	7	11	13	10	0	0	3	0	2	0	2	0	4	0	3	2	2	3	3	2	2	0	2	rs777266284		C3N-01415_TP	C3N-01415_NB	G	G																c.1069G>T	p.Ala357Ser	p.A357S	ENST00000239462	5/19	160	139	21	162	162	0	strelka-varscan-mutect	TNN,missense_variant,p.Ala357Ser,ENST00000239462,NM_022093.1;TNN,missense_variant,p.Ala357Ser,ENST00000621086,;TNN,missense_variant,p.Ala357Ser,ENST00000622870,;	T	ENST00000239462	Transcript	missense_variant	1182/5008	1069/3900	357/1299	A/S	Gcc/Tcc	rs777266284	1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1	tolerated(0.47)		5/19		PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF252,hmmpanther:PTHR19143,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	2			1										PASS		rs777266284	.												T	3	4	78	175083770	175083770	G	T	1	0	0	0	0	1	0	0	0	16796	1319	46	2		2	TNN	1	175083770	Missense_Mutation	SNP	G	C3N-01415_TP	5543378	175083770	73872652	41	25327											
TNN	0	.	GRCh38	chr1	175083842	175083842	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcaactgaggtggactacTacaagctgcgatatggcccc	10	8	10	13	1	1	1	1	1	0	0	1	3	1	2	3	3	5	1	3	3	5	3	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.1141T>A	p.Tyr381Asn	p.Y381N	ENST00000239462	5/19	336	297	39	289	288	1	strelka-varscan-mutect	TNN,missense_variant,p.Tyr381Asn,ENST00000239462,NM_022093.1;TNN,missense_variant,p.Tyr381Asn,ENST00000621086,;TNN,missense_variant,p.Tyr381Asn,ENST00000622870,;	A	ENST00000239462	Transcript	missense_variant	1254/5008	1141/3900	381/1299	Y/N	Tac/Aac		1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1	deleterious(0)		5/19		PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF252,hmmpanther:PTHR19143,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	78	175083842	175083842	T	A	1	0	0	0	0	1	0	0	0	16796	1522	53	4		4	TNN	1	175083842	Missense_Mutation	SNP	T	C3N-01415_TP	72	175083842	73872580	42	25328											
TNN	0	.	GRCh38	chr1	175136907	175136907	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agactgccaatgaatctgccTatgctatatatgatttcttc	11	15	6	9	0	2	3	0	2	2	1	3	3	2	3	2	0	3	1	2	0	6	6	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.3514T>A	p.Tyr1172Asn	p.Y1172N	ENST00000239462	17/19	319	283	36	291	291	0	strelka-varscan-mutect	TNN,missense_variant,p.Tyr1172Asn,ENST00000239462,NM_022093.1;TNN,missense_variant,p.Tyr995Asn,ENST00000621086,;TNN,missense_variant,p.Tyr995Asn,ENST00000622870,;	A	ENST00000239462	Transcript	missense_variant	3627/5008	3514/3900	1172/1299	Y/N	Tat/Aat		1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1	deleterious(0)		17/19		PROSITE_profiles:PS51406,hmmpanther:PTHR19143:SF252,hmmpanther:PTHR19143,Pfam_domain:PF00147,Gene3D:3.90.215.10,SMART_domains:SM00186,Superfamily_domains:SSF56496																	MODERATE	1	SNV	2			1										PASS		rs1227376424	.												A	3	1	78	175136907	175136907	T	A	1	0	0	0	0	1	0	0	0	16796	1522	53	4		4	TNN	1	175136907	Missense_Mutation	SNP	T	C3N-01415_TP	53065	175136907	73819515	43	25329											
TNR	0	.	GRCh38	chr1	175367254	175367254	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctttgctgtgagttcatGacggcagatattccaactcc	9	12	9	11	2	1	3	1	2	0	1	3	3	3	3	2	1	2	4	2	1	2	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2007C>A	p.=	p.V669V	ENST00000367674	10/23	309	290	19	308	308	0	strelka-varscan-mutect	TNR,synonymous_variant,p.=,ENST00000367674,;TNR,synonymous_variant,p.=,ENST00000263525,NM_003285.2;	T	ENST00000367674	Transcript	synonymous_variant	2716/12949	2007/4077	669/1358	V	gtC/gtA		1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C				10/23		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	78	175367254	175367254	G	T	1	0	0	0	0	0	0	0	1	16811	1277	45	2		2	TNR	1	175367254	Silent	SNP	G	C3N-01415_TP	230347	175367254	73589168	44	25330											
CEP350	0	.	GRCh38	chr1	180092903	180092903	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaatagagtatacaaaattGaagaagagtaagattgaaga	22	8	10	1	0	0	7	0	2	0	5	0	8	0	7	0	0	1	2	0	0	10	6	rs532994014		C3N-01415_TP	C3N-01415_NB	G	G																c.6798G>C	p.Leu2266Phe	p.L2266F	ENST00000367607	34/38	287	243	44	281	281	0	strelka-varscan-mutect	CEP350,missense_variant,p.Leu2266Phe,ENST00000367607,NM_014810.4;CEP350,missense_variant,p.Leu441Phe,ENST00000429851,;CEP350,upstream_gene_variant,,ENST00000417046,;CEP350,non_coding_transcript_exon_variant,,ENST00000490141,;CEP350,upstream_gene_variant,,ENST00000496440,;CEP350,downstream_gene_variant,,ENST00000484356,;	C	ENST00000367607	Transcript	missense_variant	7216/13491	6798/9354	2266/3117	L/F	ttG/ttC	rs532994014	1		1	CEP350	HGNC	HGNC:24238	protein_coding	YES	CCDS1336.1	ENSP00000356579	Q5VT06		UPI000013CFC5	NM_014810.4	tolerated(0.68)		34/38		hmmpanther:PTHR13958:SF4,hmmpanther:PTHR13958																	MODERATE	1	SNV	1			1										PASS		rs532994014	.												C	3	2	78	180092903	180092903	G	C	1	0	0	0	0	1	0	0	0	2972	1281	45	4		4	CEP350	1	180092903	Missense_Mutation	SNP	G	C3N-01415_TP	4725649	180092903	68863519	45	25331											
DHX9	0	.	GRCh38	chr1	182858814	182858814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcagcgacaaaaccaagtgGgtgtggttccttggtcacct	9	10	11	11	1	2	0	2	0	0	0	3	1	3	0	3	3	2	1	3	3	3	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.982G>T	p.Gly328Cys	p.G328C	ENST00000367549	10/28	347	314	33	378	378	0	strelka-varscan-mutect	DHX9,missense_variant,p.Gly328Cys,ENST00000367549,NM_001357.4;DHX9,downstream_gene_variant,,ENST00000483416,;DHX9,upstream_gene_variant,,ENST00000477802,;DHX9,downstream_gene_variant,,ENST00000479271,;	T	ENST00000367549	Transcript	missense_variant	1092/4240	982/3813	328/1270	G/C	Ggt/Tgt		1		1	DHX9	HGNC	HGNC:2750	protein_coding	YES	CCDS41444.1	ENSP00000356520	Q08211		UPI00001AEF15	NM_001357.4	deleterious(0.03)		10/28		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF119																	MODERATE	1	SNV	1			1										PASS		rs1359583792	.												T	3	4	78	182858814	182858814	G	T	1	0	0	0	0	1	0	0	0	4320	1232	43	2		2	DHX9	1	182858814	Missense_Mutation	SNP	G	C3N-01415_TP	2765911	182858814	66097608	46	25332											
LGR6	0	.	GRCh38	chr1	202310239	202310239	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taccagtgctgtccctatggGatgtgtgccagcttcttcaa	7	13	10	11	0	2	0	1	0	1	0	3	1	3	1	3	1	4	2	3	1	3	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1449G>T	p.=	p.G483G	ENST00000367278	16/18	243	186	57	225	224	1	strelka-varscan	LGR6,synonymous_variant,p.=,ENST00000367278,NM_001017403.1;LGR6,synonymous_variant,p.=,ENST00000255432,NM_021636.2;LGR6,synonymous_variant,p.=,ENST00000439764,NM_001017404.1;LGR6,downstream_gene_variant,,ENST00000423542,;LGR6,downstream_gene_variant,,ENST00000308543,;LGR6,3_prime_UTR_variant,,ENST00000487787,;	T	ENST00000367278	Transcript	synonymous_variant	1538/3567	1449/2904	483/967	G	ggG/ggT		1		1	LGR6	HGNC	HGNC:19719	protein_coding	YES	CCDS30971.1	ENSP00000356247	Q9HBX8		UPI0000161221	NM_001017403.1			16/18		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF12																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	202310239	202310239	G	T	1	0	0	0	0	0	0	0	1	8668	1161	41	2		2	LGR6	1	202310239	Silent	SNP	G	C3N-01415_TP	19451425	202310239	46646183	47	25333											
SERTAD4	0	.	GRCh38	chr1	210237986	210237986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggttctgtccatgaataGattctgcgagcccattgtct	7	15	9	10	1	4	2	0	1	4	1	5	3	5	2	2	1	2	1	2	1	2	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.26G>A	p.Arg9Lys	p.R9K	ENST00000367012	2/4	344	250	94	331	331	0	strelka-varscan	SERTAD4,missense_variant,p.Arg9Lys,ENST00000367012,NM_019605.3;SERTAD4-AS1,upstream_gene_variant,,ENST00000437764,;SERTAD4-AS1,upstream_gene_variant,,ENST00000480052,;SERTAD4,non_coding_transcript_exon_variant,,ENST00000490620,;SERTAD4,non_coding_transcript_exon_variant,,ENST00000482421,;SERTAD4,non_coding_transcript_exon_variant,,ENST00000483884,;	A	ENST00000367012	Transcript	missense_variant	256/5219	26/1071	9/356	R/K	aGa/aAa		1		1	SERTAD4	HGNC	HGNC:25236	protein_coding	YES	CCDS1494.1	ENSP00000355979	Q9NUC0		UPI0000070BBE	NM_019605.3	tolerated(0.17)		2/4		hmmpanther:PTHR14272,hmmpanther:PTHR14272:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	210237986	210237986	G	A	1	0	0	0	0	1	0	0	0	14399	942	33	3		3	SERTAD4	1	210237986	Missense_Mutation	SNP	G	C3N-01415_TP	7927747	210237986	38718436	48	25334											
PPP2R5A	0	.	GRCh38	chr1	212329213	212329213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtttgatttcatggactCtgtttcagacttgaagagca	10	15	9	7	0	3	4	2	2	1	2	3	5	3	5	0	1	1	3	0	1	1	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.260C>G	p.Ser87Cys	p.S87C	ENST00000261461	2/13	191	169	22	215	215	0	strelka-varscan	PPP2R5A,missense_variant,p.Ser87Cys,ENST00000261461,NM_006243.3;PPP2R5A,missense_variant,p.Ser30Cys,ENST00000537030,NM_001199756.1;RP11-384C4.7,intron_variant,,ENST00000442146,;PPP2R5A,non_coding_transcript_exon_variant,,ENST00000498129,;PPP2R5A,non_coding_transcript_exon_variant,,ENST00000479259,;	G	ENST00000261461	Transcript	missense_variant	834/3128	260/1461	87/486	S/C	tCt/tGt		1		1	PPP2R5A	HGNC	HGNC:9309	protein_coding	YES	CCDS1503.1	ENSP00000261461	Q15172		UPI0000124E90	NM_006243.3	tolerated(0.12)		2/13		hmmpanther:PTHR10257,hmmpanther:PTHR10257:SF6,Pfam_domain:PF01603,PIRSF_domain:PIRSF028043,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	212329213	212329213	C	G	1	0	0	0	0	1	0	0	0	12514	913	32	4		4	PPP2R5A	1	212329213	Missense_Mutation	SNP	C	C3N-01415_TP	2091227	212329213	36627209	49	25335											
USH2A	0	.	GRCh38	chr1	216327596	216327596	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacatctgcttacctgttTgtaagtgccacttggtataa	10	14	8	9	0	1	0	0	0	1	0	1	0	1	0	2	1	4	5	2	1	5	6	rs759081029		C3N-01415_TP	C3N-01415_NB	T	T																c.843A>T	p.=	p.T281T	ENST00000307340	5/72	445	393	52	488	488	0	strelka-varscan	USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;USH2A,synonymous_variant,p.=,ENST00000366942,NM_007123.5;	A	ENST00000307340	Transcript	synonymous_variant	1230/18883	843/15609	281/5202	T	acA/acT	rs759081029	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			5/72		Gene3D:2.60.120.200,Pfam_domain:PF13385,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00136,SMART_domains:SM00560,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	216327596	216327596	T	A	1	0	0	0	0	0	0	0	1	17570	1826	63	4		4	USH2A	1	216327596	Silent	SNP	T	C3N-01415_TP	3998383	216327596	32628826	50	25336											
USH2A	0	.	GRCh38	chr1	216422242	216422242	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaaaagacctcgtgacTcagtcaaggatattgaagca	14	9	11	7	1	2	3	2	2	0	1	3	5	2	5	1	2	1	1	1	2	5	3	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.95A>T	p.Glu32Val	p.E32V	ENST00000307340	2/72	164	141	23	211	211	0	strelka-varscan	USH2A,missense_variant,p.Glu32Val,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Glu32Val,ENST00000366942,NM_007123.5;	A	ENST00000307340	Transcript	missense_variant	482/18883	95/15609	32/5202	E/V	gAg/gTg		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(0.29)		2/72																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	216422242	216422242	T	A	1	0	0	0	0	1	0	0	0	17570	1551	54	4		4	USH2A	1	216422242	Missense_Mutation	SNP	T	C3N-01415_TP	94646	216422242	32534180	51	25337											
LEFTY1	0	.	GRCh38	chr1	225888965	225888965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacctctttgagctgcagCtgccgcagcaggctgcccag	6	7	13	15	1	1	1	0	1	1	0	1	1	1	1	3	2	6	7	3	2	0	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.102G>T	p.Gln34His	p.Q34H	ENST00000272134	1/4	121	104	17	109	109	0	strelka-varscan	LEFTY1,missense_variant,p.Gln34His,ENST00000272134,NM_020997.3;RP4-559A3.7,intron_variant,,ENST00000432920,;LEFTY1,intron_variant,,ENST00000492457,;	A	ENST00000272134	Transcript	missense_variant	182/1626	102/1101	34/366	Q/H	caG/caT		1		-1	LEFTY1	HGNC	HGNC:6552	protein_coding	YES	CCDS1548.1	ENSP00000272134	O75610		UPI000003721B	NM_020997.3	tolerated(0.05)		1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR11848:SF167,hmmpanther:PTHR11848,PIRSF_domain:PIRSF037402,Prints_domain:PR01427																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	225888965	225888965	C	A	1	0	0	0	0	1	0	0	0	8623	796	28	2		2	LEFTY1	1	225888965	Missense_Mutation	SNP	C	C3N-01415_TP	9466723	225888965	23067457	52	25338											
SDE2	0	.	GRCh38	chr1	225999303	225999303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatccacaccagcgccgcggCctccgccatgtcaccgacta	9	5	8	19	5	1	0	1	0	0	0	3	1	3	0	7	1	1	0	7	1	2	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.10G>A	p.Ala4Thr	p.A4T	ENST00000272091	1/7	144	109	35	104	103	1	strelka-varscan	SDE2,missense_variant,p.Ala4Thr,ENST00000272091,NM_152608.3;	T	ENST00000272091	Transcript	missense_variant	29/3975	10/1356	4/451	A/T	Gcc/Acc		1		-1	SDE2	HGNC	HGNC:26643	protein_coding	YES	CCDS41473.1	ENSP00000272091	Q6IQ49		UPI0000204007	NM_152608.3	tolerated_low_confidence(0.36)		1/7		hmmpanther:PTHR12786:SF1,hmmpanther:PTHR12786																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	225999303	225999303	C	T	1	0	0	0	0	1	0	0	0	14231	739	26	3		3	SDE2	1	225999303	Missense_Mutation	SNP	C	C3N-01415_TP	110338	225999303	22957119	53	25339											
NID1	0	.	GRCh38	chr1	236025894	236025894	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcatgagctgtatccccttAcccctcacaggcccaatgga	10	8	8	15	0	1	1	1	1	0	0	2	2	2	2	5	2	3	3	5	2	3	2	rs756600846		C3N-01415_TP	C3N-01415_NB	A	A																c.1984+2T>A		p.X662_splice	ENST00000264187		210	181	29	212	212	0	strelka-varscan	NID1,splice_donor_variant,,ENST00000264187,NM_002508.2;NID1,splice_donor_variant,,ENST00000366595,;	T	ENST00000264187	Transcript	splice_donor_variant	-/5864	1984/3744	662/1247			rs756600846	1		-1	NID1	HGNC	HGNC:7821	protein_coding	YES	CCDS1608.1	ENSP00000264187	P14543		UPI000013D4D9	NM_002508.2				8/19																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	78	236025894	236025894	A	T	1	0	0	0	0	0	0	1	0	10447	405	14	4		4	NID1	1	236025894	Splice_Site	SNP	A	C3N-01415_TP	10026591	236025894	12930528	54	25340											
MTR	0	.	GRCh38	chr1	236825351	236825352	+	Frame_Shift_Ins	INS	-	-	T																															tctcaggtcttcccaacaccINStttggtgactatgatgaaac																								novel		C3N-01415_TP	C3N-01415_NB	-	-																c.882dupT	p.Gly295TrpfsTer2	p.G295Wfs*2	ENST00000366577	10/33	451	404	47	432	432	0	sindel-varindel-pindel	MTR,frameshift_variant,p.Gly295TrpfsTer2,ENST00000366577,NM_000254.2;MTR,frameshift_variant,p.Gly295TrpfsTer2,ENST00000535889,NM_001291939.1;MTR,non_coding_transcript_exon_variant,,ENST00000463959,;RPSAP21,downstream_gene_variant,,ENST00000414293,;	T	ENST00000366577	Transcript	frameshift_variant	1273-1274/10529	879-880/3798	293-294/1265	-/X	-/T		1		1	MTR	HGNC	HGNC:7468	protein_coding	YES	CCDS1614.1	ENSP00000355536	Q99707		UPI0000036BC4	NM_000254.2			10/33		PROSITE_profiles:PS50970,hmmpanther:PTHR21091,hmmpanther:PTHR21091:SF112,Pfam_domain:PF02574,TIGRFAM_domain:TIGR02082,PIRSF_domain:PIRSF000381,Gene3D:3.20.20.330,Superfamily_domains:SSF82282																	HIGH	1	insertion	1	3		1										PASS		.	.												T	7	5	78	236825351	236825351	-	T	1	0	1	1	0	0	0	0	0	9944	668	24	0		0	MTR	1	236825351	Frame_Shift_Ins	INS	-	C3N-01415_TP	799457	236825351	12131071	55	25341											
RGS7	0	.	GRCh38	chr1	240813690	240813690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaggtggcaaaagaaacGggtcgtattctaaatactgt	13	10	12	6	2	2	1	1	0	1	1	3	1	2	1	0	4	2	2	0	4	7	4			C3N-01415_TP	C3N-01415_NB	G	G																c.884C>T	p.Pro295Leu	p.P295L	ENST00000366565	13/18	648	563	85	617	617	0	strelka-varscan	RGS7,missense_variant,p.Pro295Leu,ENST00000366565,NM_002924.5;RGS7,missense_variant,p.Pro295Leu,ENST00000366564,NM_001282778.1;RGS7,missense_variant,p.Pro295Leu,ENST00000366563,NM_001282775.1;RGS7,missense_variant,p.Pro242Leu,ENST00000348120,NM_001282773.1;RGS7,missense_variant,p.Pro126Leu,ENST00000440928,;	A	ENST00000366565	Transcript	missense_variant	1266/2494	884/1464	295/487	P/L	cCg/cTg	COSM1668605,COSM1668606,COSM1668607	1		-1	RGS7	HGNC	HGNC:10003	protein_coding	YES	CCDS31071.1	ENSP00000355523	P49802		UPI000040E182	NM_002924.5	tolerated(0.06)		13/18		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF26,Pfam_domain:PF00631,Gene3D:4.10.260.10,SMART_domains:SM00224,SMART_domains:SM01224,Superfamily_domains:SSF48670											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	78	240813690	240813690	G	A	1	0	0	0	0	1	0	0	0	13481	1116	39	1		1	RGS7	1	240813690	Missense_Mutation	SNP	G	C3N-01415_TP	3988339	240813690	8142732	56	25342											
OR14K1	0	.	GRCh38	chr1	247739332	247739332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagccttttccaactgtGtgcctcacctcattgttgtc	7	14	6	14	0	2	0	2	0	0	0	4	0	3	0	5	0	3	1	5	0	2	4			C3N-01415_TP	C3N-01415_NB	G	G																c.718G>T	p.Val240Leu	p.V240L	ENST00000283225	1/1	341	248	93	412	411	1	strelka-varscan	OR14K1,missense_variant,p.Val240Leu,ENST00000283225,;RP11-634B7.4,intron_variant,,ENST00000449298,;	T	ENST00000283225	Transcript	missense_variant	718/945	718/945	240/314	V/L	Gtg/Ttg	COSM5296434	1		1	OR14K1	HGNC	HGNC:15025	protein_coding	YES		ENSP00000283225	Q8NGZ2		UPI0000041CBA		tolerated(1)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245											1						MODERATE		SNV			1	1										PASS		.	.												T	3	4	78	247739332	247739332	G	T	1	0	0	0	0	1	0	0	0	11026	1377	48	2		2	OR14K1	1	247739332	Missense_Mutation	SNP	G	C3N-01415_TP	6925642	247739332	1217090	57	25343											
OR2M3	0	.	GRCh38	chr1	248203988	248203988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgaagatcttaggaaaGggcaagtctggagagtgagt	13	10	14	4	0	3	4	1	2	2	2	3	6	3	5	0	3	0	1	0	3	4	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.921G>T	p.Lys307Asn	p.K307N	ENST00000456743	1/1	318	285	33	356	355	1	strelka-varscan	OR2M3,missense_variant,p.Lys307Asn,ENST00000456743,NM_001004689.1;	T	ENST00000456743	Transcript	missense_variant	921/939	921/939	307/312	K/N	aaG/aaT		1		1	OR2M3	HGNC	HGNC:8269	protein_coding	YES	CCDS31107.1	ENSP00000389625	Q8NG83	A0A126GV67	UPI000004B234	NM_001004689.1	deleterious(0.05)		1/1		hmmpanther:PTHR26453:SF28,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	78	248203988	248203988	G	T	1	0	0	0	0	1	0	0	0	11089	991	35	2		2	OR2M3	1	248203988	Missense_Mutation	SNP	G	C3N-01415_TP	464656	248203988	752434	58	25344											
OR2G6	0	.	GRCh38	chr1	248521838	248521838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgtacttcttcctcagCaacctctcgtgtgtggacat	8	13	7	13	1	3	0	1	0	2	0	5	1	4	1	3	1	3	2	3	1	3	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.192C>A	p.Ser64Arg	p.S64R	ENST00000343414	1/1	423	369	54	427	427	0	strelka-varscan	OR2G6,missense_variant,p.Ser64Arg,ENST00000343414,NM_001013355.1;	A	ENST00000343414	Transcript	missense_variant	192/951	192/951	64/316	S/R	agC/agA		1		1	OR2G6	HGNC	HGNC:27019	protein_coding	YES	CCDS31119.1	ENSP00000341291	Q5TZ20	A0A126GW53	UPI0000237253	NM_001013355.1	tolerated(0.09)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF110,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	78	248521838	248521838	C	A	1	0	0	0	0	1	0	0	0	11078	709	25	2		2	OR2G6	1	248521838	Missense_Mutation	SNP	C	C3N-01415_TP	317850	248521838	434584	59	25345											
DDX1	0	.	GRCh38	chr2	15617267	15617267	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatatagttgtaggtactccGggaagactagatgacttggt	11	12	13	5	1	0	3	0	1	0	2	1	5	1	4	1	3	1	3	1	3	6	7	rs150852999		C3N-01415_TP	C3N-01415_NB	G	G																c.1041G>T	p.=	p.P347P	ENST00000381341	16/27	191	170	21	238	238	0	strelka-varscan	DDX1,synonymous_variant,p.=,ENST00000381341,;DDX1,synonymous_variant,p.=,ENST00000233084,NM_004939.2;DDX1,synonymous_variant,p.=,ENST00000617198,;DDX1,synonymous_variant,p.=,ENST00000621973,;DDX1,upstream_gene_variant,,ENST00000459706,;DDX1,upstream_gene_variant,,ENST00000470674,;	T	ENST00000381341	Transcript	synonymous_variant	1430/2817	1041/2223	347/740	P	ccG/ccT	rs150852999	1		1	DDX1	HGNC	HGNC:2734	protein_coding	YES	CCDS1686.1	ENSP00000370745	Q92499	A3RJH1	UPI00001290D1				16/27		PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF307,hmmpanther:PTHR24031,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	78	15617267	15617267	G	T	1	0	0	0	0	0	0	0	1	4145	1103	39	1		1	DDX1	2	15617267	Silent	SNP	G	C3N-01415_TP		15617267	226576262	60	25346											
NT5C1B	0	.	GRCh38	chr2	18584863	18584863	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtccagcgaccggggcAgctggggcgacgcgggtggc	5	3	21	12	6	0	0	0	0	0	0	1	3	1	0	2	6	2	2	2	6	0	0	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.554T>A	p.Leu185Gln	p.L185Q	ENST00000359846	5/10	107	74	33	109	109	0	strelka-varscan	NT5C1B,missense_variant,p.Leu125Gln,ENST00000304081,NM_033253.3;NT5C1B,missense_variant,p.Leu185Gln,ENST00000359846,NM_001002006.2,NM_001199087.1,NM_001199088.1,NM_001199086.1;NT5C1B-RDH14,missense_variant,p.Leu185Gln,ENST00000532967,NM_001199104.1;NT5C1B-RDH14,missense_variant,p.Leu127Gln,ENST00000444297,NM_001199103.1;NT5C1B,missense_variant,p.Leu202Gln,ENST00000416783,;NT5C1B,upstream_gene_variant,,ENST00000418427,;RNU6-1215P,upstream_gene_variant,,ENST00000384441,;NT5C1B,downstream_gene_variant,,ENST00000460052,;NT5C1B,missense_variant,p.Cys103Ser,ENST00000406971,;NT5C1B,non_coding_transcript_exon_variant,,ENST00000490687,;	T	ENST00000359846	Transcript	missense_variant	632/2475	554/1833	185/610	L/Q	cTg/cAg		1		-1	NT5C1B	HGNC	HGNC:17818	protein_coding	YES	CCDS33150.1	ENSP00000352904	Q96P26	A0A140VJC7	UPI000035B1B0	NM_001002006.2,NM_001199087.1,NM_001199088.1,NM_001199086.1	tolerated_low_confidence(0.36)		5/10		hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	18584863	18584863	A	T	1	0	0	0	0	1	0	0	0	10749	188	7	4		4	NT5C1B	2	18584863	Missense_Mutation	SNP	A	C3N-01415_TP	2967596	18584863	223608666	61	25347											
EMILIN1	0	.	GRCh38	chr2	27082918	27082918	+	Frame_Shift_Del	DEL	G	G	-																															cggggccgactagagcagttGggggggctgctggccaatgt																								rs557123421		C3N-01415_TP	C3N-01415_NB	G	G																c.1353delG	p.Leu452CysfsTer5	p.L452Cfs*5	ENST00000380320	4/8	85	65	20	89	89	0	sindel-varindel-pindel	EMILIN1,frameshift_variant,p.Leu452CysfsTer5,ENST00000380320,NM_007046.3;KHK,upstream_gene_variant,,ENST00000260599,NM_000221.2;KHK,upstream_gene_variant,,ENST00000260598,NM_006488.2;EMILIN1,upstream_gene_variant,,ENST00000433140,;KHK,upstream_gene_variant,,ENST00000429697,;KHK,upstream_gene_variant,,ENST00000490823,;	-	ENST00000380320	Transcript	frameshift_variant	1846/3943	1347/3051	449/1016	L/X	ttG/tt	rs557123421,COSM2913095,COSM368731	1		1	EMILIN1	HGNC	HGNC:19880	protein_coding	YES	CCDS1733.1	ENSP00000369677		A0A0C4DFX3	UPI0000073B0E	NM_007046.3			4/8													0,1,1						HIGH	1	deletion	1	6	0,1,1	1										PASS		.	.												-	7	5	78	27082918	27082918	G	-	1	0	1	0	1	0	0	0	0	4936	1339	47	0		0	EMILIN1	2	27082918	Frame_Shift_Del	DEL	G	C3N-01415_TP	8498055	27082918	215110611	62	25348											
SLC5A6	0	.	GRCh38	chr2	27201003	27201003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcaggtactacctggcCgtagctcctgcagtggagcc	8	7	13	13	1	0	0	0	0	0	0	1	2	1	1	4	3	6	5	4	3	3	3	rs764448030		C3N-01415_TP	C3N-01415_NB	C	C																c.1759G>T	p.Gly587Cys	p.G587C	ENST00000310574	16/17	68	48	20	59	59	0	strelka-varscan	SLC5A6,missense_variant,p.Gly587Cys,ENST00000310574,NM_021095.2;SLC5A6,missense_variant,p.Gly587Cys,ENST00000408041,;SLC5A6,downstream_gene_variant,,ENST00000461319,;SLC5A6,non_coding_transcript_exon_variant,,ENST00000488743,;SLC5A6,non_coding_transcript_exon_variant,,ENST00000461757,;SLC5A6,downstream_gene_variant,,ENST00000445802,;SLC5A6,downstream_gene_variant,,ENST00000476319,;SLC5A6,downstream_gene_variant,,ENST00000492069,;SLC5A6,downstream_gene_variant,,ENST00000464538,;SLC5A6,downstream_gene_variant,,ENST00000481751,;	A	ENST00000310574	Transcript	missense_variant	2233/3231	1759/1908	587/635	G/C	Ggc/Tgc	rs764448030	1		-1	SLC5A6	HGNC	HGNC:11041	protein_coding	YES	CCDS1740.1	ENSP00000310208	Q9Y289		UPI000006DE33	NM_021095.2	tolerated(0.06)		16/17		hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF140																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	27201003	27201003	C	A	1	0	0	0	0	1	0	0	0	14952	666	23	1		1	SLC5A6	2	27201003	Missense_Mutation	SNP	C	C3N-01415_TP	118085	27201003	214992526	63	25349											
SPAST	0	.	GRCh38	chr2	32098842	32098842	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaagtcacaaacggacgtCtataatgacagtactaactt	15	10	6	10	2	2	1	1	1	1	0	3	2	3	2	1	1	3	1	1	1	6	5	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.633C>G	p.=	p.V211V	ENST00000615843	4/17	556	524	32	525	525	0	strelka-varscan	SPAST,synonymous_variant,p.=,ENST00000615843,NM_014946.3;SPAST,synonymous_variant,p.=,ENST00000315285,;SPAST,synonymous_variant,p.=,ENST00000621856,;SPAST,intron_variant,,ENST00000345662,NM_199436.1;	G	ENST00000615843	Transcript	synonymous_variant	854/5212	633/1851	211/616	V	gtC/gtG		1		1	SPAST	HGNC	HGNC:11233	protein_coding	YES	CCDS1778.1	ENSP00000480893	Q9UBP0	E5KRP5	UPI0000038A6B	NM_014946.3			4/17		HAMAP:MF_03021,PIRSF_domain:PIRSF037338,hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF86																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	78	32098842	32098842	C	G	1	0	0	0	0	0	0	0	1	15328	900	32	4		4	SPAST	2	32098842	Silent	SNP	C	C3N-01415_TP	4897839	32098842	210094687	64	25350											
NRXN1	0	.	GRCh38	chr2	51028088	51028088	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagagcacgaggccgcgggcGctgcgagtcttgagctggaa	8	6	17	10	5	1	2	0	1	1	1	1	5	1	3	1	3	3	3	1	3	2	2			C3N-01415_TP	C3N-01415_NB	G	G																c.186C>T	p.=	p.S62S	ENST00000404971	2/24	89	77	12	90	90	0	strelka-varscan	NRXN1,synonymous_variant,p.=,ENST00000406316,NM_004801.4;NRXN1,synonymous_variant,p.=,ENST00000625672,;NRXN1,synonymous_variant,p.=,ENST00000404971,NM_001135659.1;NRXN1,synonymous_variant,p.=,ENST00000401669,;NRXN1,synonymous_variant,p.=,ENST00000405472,;NRXN1,synonymous_variant,p.=,ENST00000405581,;NRXN1,synonymous_variant,p.=,ENST00000630543,;NRXN1,synonymous_variant,p.=,ENST00000637511,;NRXN1,synonymous_variant,p.=,ENST00000628515,;NRXN1,synonymous_variant,p.=,ENST00000626899,;NRXN1,upstream_gene_variant,,ENST00000636066,;NRXN1,upstream_gene_variant,,ENST00000627198,;NRXN1,upstream_gene_variant,,ENST00000496792,;AC007682.1,upstream_gene_variant,,ENST00000440698,;NRXN1,downstream_gene_variant,,ENST00000635310,;NRXN1,downstream_gene_variant,,ENST00000635126,;NRXN1,downstream_gene_variant,,ENST00000636599,;NRXN1,upstream_gene_variant,,ENST00000637679,;NRXN1,downstream_gene_variant,,ENST00000638060,;NRXN1,downstream_gene_variant,,ENST00000637006,;	A	ENST00000404971	Transcript	synonymous_variant	1526/7578	186/4644	62/1547	S	agC/agT	COSM1130765,COSM1130766,COSM4876256,COSM4876257	1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1			2/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,SMART_domains:SM00282,Superfamily_domains:SSF49899											1,1,1,1						LOW	1	SNV	1		1,1,1,1	1										PASS		.	.												A	2	1	78	51028088	51028088	G	A	1	0	0	0	0	0	0	0	1	10724	1078	38	1		1	NRXN1	2	51028088	Silent	SNP	G	C3N-01415_TP	18929246	51028088	191165441	65	25351											
UGP2	0	.	GRCh38	chr2	63882522	63882522	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgataatatatcttccgtGttgaacaaactagtggtggt	11	14	9	7	1	1	2	0	2	1	0	2	2	2	2	2	2	2	1	2	2	6	6	rs779321630		C3N-01415_TP	C3N-01415_NB	G	G																c.312G>T	p.=	p.V104V	ENST00000337130	4/10	118	106	12	136	136	0	strelka-varscan	UGP2,synonymous_variant,p.=,ENST00000337130,NM_006759.3;UGP2,synonymous_variant,p.=,ENST00000394417,NM_001001521.1;UGP2,synonymous_variant,p.=,ENST00000467648,;UGP2,synonymous_variant,p.=,ENST00000445915,;UGP2,synonymous_variant,p.=,ENST00000613823,;UGP2,synonymous_variant,p.=,ENST00000488245,;UGP2,synonymous_variant,p.=,ENST00000491621,;UGP2,synonymous_variant,p.=,ENST00000482668,;UGP2,synonymous_variant,p.=,ENST00000497883,;UGP2,synonymous_variant,p.=,ENST00000475462,;UGP2,synonymous_variant,p.=,ENST00000472047,;ACA59,downstream_gene_variant,,ENST00000515966,;UGP2,non_coding_transcript_exon_variant,,ENST00000487469,;UGP2,non_coding_transcript_exon_variant,,ENST00000495020,;UGP2,3_prime_UTR_variant,,ENST00000466642,;UGP2,3_prime_UTR_variant,,ENST00000487042,;UGP2,3_prime_UTR_variant,,ENST00000493222,;UGP2,3_prime_UTR_variant,,ENST00000467999,;UGP2,3_prime_UTR_variant,,ENST00000497510,;UGP2,3_prime_UTR_variant,,ENST00000467400,;UGP2,3_prime_UTR_variant,,ENST00000496334,;UGP2,non_coding_transcript_exon_variant,,ENST00000475550,;UGP2,non_coding_transcript_exon_variant,,ENST00000494536,;UGP2,non_coding_transcript_exon_variant,,ENST00000483461,;UGP2,downstream_gene_variant,,ENST00000483108,;	T	ENST00000337130	Transcript	synonymous_variant	788/2338	312/1527	104/508	V	gtG/gtT	rs779321630	1		1	UGP2	HGNC	HGNC:12527	protein_coding	YES	CCDS1875.1	ENSP00000338703	Q16851		UPI000000DB95	NM_006759.3			4/10		Low_complexity_(Seg):seg,hmmpanther:PTHR11952,Pfam_domain:PF01704,Gene3D:3.90.550.10,PIRSF_domain:PIRSF000806,Superfamily_domains:SSF53448																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	63882522	63882522	G	T	1	0	0	0	0	0	0	0	1	17468	1364	48	2		2	UGP2	2	63882522	Silent	SNP	G	C3N-01415_TP	12854434	63882522	178311007	66	25352											
ANXA4	0	.	GRCh38	chr2	69810623	69810623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagccttgaagatgacattCgctctgacacatcgttcatg	10	11	10	10	2	2	4	1	3	1	1	4	5	2	5	1	1	1	2	1	1	1	3	rs755577388		C3N-01415_TP	C3N-01415_NB	C	C																c.427C>T	p.Arg143Cys	p.R143C	ENST00000394295	7/13	241	225	16	273	273	0	strelka-varscan	ANXA4,missense_variant,p.Arg143Cys,ENST00000394295,NM_001153.3;ANXA4,missense_variant,p.Arg121Cys,ENST00000409920,;ANXA4,downstream_gene_variant,,ENST00000460942,;ANXA4,downstream_gene_variant,,ENST00000460439,;ANXA4,missense_variant,p.Arg121Cys,ENST00000635311,;ANXA4,3_prime_UTR_variant,,ENST00000468815,;ANXA4,3_prime_UTR_variant,,ENST00000472124,;ANXA4,non_coding_transcript_exon_variant,,ENST00000477632,;ANXA4,non_coding_transcript_exon_variant,,ENST00000487351,;ANXA4,upstream_gene_variant,,ENST00000471395,;	T	ENST00000394295	Transcript	missense_variant	675/2799	427/966	143/321	R/C	Cgc/Tgc	rs755577388,COSM3582769	1		1	ANXA4	HGNC	HGNC:542	protein_coding	YES	CCDS1894.1	ENSP00000377833	P09525	Q6LES2	UPI000013D51A	NM_001153.3	tolerated(0.11)		7/13		hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF28,PROSITE_patterns:PS00223,Pfam_domain:PF00191,Gene3D:1.10.220.10,SMART_domains:SM00335,Superfamily_domains:SSF47874											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	78	69810623	69810623	C	T	1	0	0	0	0	1	0	0	0	828	884	31	1		1	ANXA4	2	69810623	Missense_Mutation	SNP	C	C3N-01415_TP	5928101	69810623	172382906	67	25353											
REG3A	0	.	GRCh38	chr2	79158417	79158417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggatccctcagccccaCtgagcacagacaccaggttt	11	6	9	15	1	1	2	1	1	0	1	2	4	2	3	4	2	2	2	4	2	1	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.242G>T	p.Ser81Ile	p.S81I	ENST00000393878	3/5	284	252	32	286	286	0	strelka-varscan-mutect	REG3A,missense_variant,p.Ser81Ile,ENST00000393878,NM_138938.2;REG3A,missense_variant,p.Ser81Ile,ENST00000409839,NM_002580.2,NM_138937.2;REG3A,missense_variant,p.Ser81Ile,ENST00000305165,;AC011754.1,non_coding_transcript_exon_variant,,ENST00000415201,;REG3A,downstream_gene_variant,,ENST00000464746,;REG3A,downstream_gene_variant,,ENST00000490901,;	A	ENST00000393878	Transcript	missense_variant	590/1095	242/528	81/175	S/I	aGt/aTt		1		-1	REG3A	HGNC	HGNC:8601	protein_coding	YES	CCDS1965.1	ENSP00000377456	Q06141	Q53S56	UPI0000001C5B	NM_138938.2	deleterious(0)		3/5		PROSITE_profiles:PS50041,hmmpanther:PTHR22801:SF45,hmmpanther:PTHR22801,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	79158417	79158417	C	A	1	0	0	0	0	1	0	0	0	13382	565	20	2		2	REG3A	2	79158417	Missense_Mutation	SNP	C	C3N-01415_TP	9347794	79158417	163035112	68	25354											
IMMT	0	.	GRCh38	chr2	86159586	86159586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgttgtgaagtttaccctCtgcagcagttatatgaggct	9	14	10	8	0	1	2	0	2	1	0	1	2	1	2	1	1	3	6	1	1	4	5	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.982G>A	p.Glu328Lys	p.E328K	ENST00000410111	9/15	231	210	21	264	264	0	strelka-varscan-mutect	IMMT,missense_variant,p.Glu328Lys,ENST00000410111,NM_006839.2;IMMT,missense_variant,p.Glu317Lys,ENST00000449247,NM_001100170.1;IMMT,missense_variant,p.Glu327Lys,ENST00000442664,NM_001100169.1;IMMT,missense_variant,p.Glu229Lys,ENST00000254636,;IMMT,missense_variant,p.Glu281Lys,ENST00000409051,;IMMT,missense_variant,p.Glu183Lys,ENST00000419070,;IMMT,intron_variant,,ENST00000620815,;Y_RNA,downstream_gene_variant,,ENST00000363371,;IMMT,non_coding_transcript_exon_variant,,ENST00000490238,;IMMT,3_prime_UTR_variant,,ENST00000409258,;IMMT,non_coding_transcript_exon_variant,,ENST00000474969,;	T	ENST00000410111	Transcript	missense_variant	1370/3001	982/2277	328/758	E/K	Gag/Aag		1		-1	IMMT	HGNC	HGNC:6047	protein_coding	YES	CCDS46355.1	ENSP00000387262	Q16891		UPI0000073828	NM_006839.2	deleterious(0.01)		9/15		hmmpanther:PTHR15415:SF7,hmmpanther:PTHR15415,Pfam_domain:PF09731																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	86159586	86159586	C	T	1	0	0	0	0	1	0	0	0	7621	922	32	3		3	IMMT	2	86159586	Missense_Mutation	SNP	C	C3N-01415_TP	7001169	86159586	156033943	69	25355											
SMYD1	0	.	GRCh38	chr2	88108410	88108410	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcccaactgggcatggcCgtgatgcgggcagggctgac	8	6	16	11	2	0	2	0	2	0	0	0	2	0	2	2	4	3	3	2	4	2	0	rs113530320		C3N-01415_TP	C3N-01415_NB	C	C																c.1185C>A	p.=	p.A395A	ENST00000419482	9/10	141	94	47	142	142	0	strelka-varscan-mutect	SMYD1,synonymous_variant,p.=,ENST00000419482,NM_198274.3;SMYD1,synonymous_variant,p.=,ENST00000444564,;SMYD1,intron_variant,,ENST00000438570,;	A	ENST00000419482	Transcript	synonymous_variant	1270/4433	1185/1473	395/490	A	gcC/gcA	rs113530320,COSM3758407	1		1	SMYD1	HGNC	HGNC:20986	protein_coding	YES	CCDS33240.1	ENSP00000393453	Q8NB12	A0A0A6YYB2	UPI000006EB68	NM_198274.3			9/10		hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF184											0,1						LOW	1	SNV	1		0,1	1										PASS		rs113530320	.												A	2	1	78	88108410	88108410	C	A	1	0	0	0	0	0	0	0	1	15142	639	23	1		1	SMYD1	2	88108410	Silent	SNP	C	C3N-01415_TP	1948824	88108410	154085119	70	25356											
TEKT4	0	.	GRCh38	chr2	94874920	94874920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcggctccagtgcgaCgccgtgaacctggccttcgg	5	7	14	15	5	0	1	0	1	0	0	2	3	1	1	5	3	3	1	5	3	1	1	rs782775406		C3N-01415_TP	C3N-01415_NB	C	C																c.858C>A	p.Asp286Glu	p.D286E	ENST00000295201	4/6	318	242	76	262	262	0	strelka-varscan-mutect	TEKT4,missense_variant,p.Asp286Glu,ENST00000295201,NM_144705.3,NM_001286559.1;AC097374.2,intron_variant,,ENST00000568768,;AC097374.2,intron_variant,,ENST00000582835,;TEKT4,non_coding_transcript_exon_variant,,ENST00000468063,;	A	ENST00000295201	Transcript	missense_variant	995/1505	858/1308	286/435	D/E	gaC/gaA	rs782775406	1		1	TEKT4	HGNC	HGNC:31012	protein_coding	YES	CCDS2005.1	ENSP00000295201	Q8WW24		UPI00000730A8	NM_144705.3,NM_001286559.1	tolerated(0.05)		4/6		hmmpanther:PTHR19960,hmmpanther:PTHR19960:SF26,Pfam_domain:PF03148																	MODERATE	1	SNV	1			1										PASS		rs782775406	.												A	3	1	78	94874920	94874920	C	A	1	0	0	0	0	1	0	0	0	16167	535	19	1		1	TEKT4	2	94874920	Missense_Mutation	SNP	C	C3N-01415_TP	6766510	94874920	147318609	71	25357											
SNRNP200	0	.	GRCh38	chr2	96301614	96301614	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggtatcatctgtttgacCcagcagcaggtcaatctcct	8	13	8	12	0	5	1	2	1	3	0	6	1	5	1	2	2	2	4	2	2	2	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.484G>T	p.Gly162Cys	p.G162C	ENST00000323853	4/45	617	434	183	531	531	0	strelka-varscan-mutect	SNRNP200,missense_variant,p.Gly162Cys,ENST00000323853,NM_014014.4;	A	ENST00000323853	Transcript	missense_variant	562/7165	484/6411	162/2136	G/C	Ggt/Tgt		1		-1	SNRNP200	HGNC	HGNC:30859	protein_coding	YES	CCDS2020.1	ENSP00000317123	O75643		UPI0000207C53	NM_014014.4	deleterious(0)		4/45		PIRSF_domain:PIRSF039073																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	96301614	96301614	C	A	1	0	0	0	0	1	0	0	0	15172	623	22	2		2	SNRNP200	2	96301614	Missense_Mutation	SNP	C	C3N-01415_TP	1426694	96301614	145891915	72	25358											
FAHD2B	0	.	GRCh38	chr2	97086139	97086139	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccctttccacctcacCttgatgtgcttgcctttctt	4	15	5	17	0	2	1	1	1	1	0	3	1	3	1	6	0	2	1	6	0	0	5	rs760450683		C3N-01415_TP	C3N-01415_NB	C	C																c.522G>T	p.Lys174Asn	p.K174N	ENST00000414820	5/9	424	400	24	204	203	1	varscan-mutect	FAHD2B,missense_variant,p.Lys174Asn,ENST00000414820,NM_001320848.1;FAHD2B,missense_variant,p.Lys174Asn,ENST00000272610,NM_199336.1;FAHD2B,downstream_gene_variant,,ENST00000468548,;FAHD2B,non_coding_transcript_exon_variant,,ENST00000463096,;FAHD2B,intron_variant,,ENST00000474849,;FAHD2B,downstream_gene_variant,,ENST00000483657,;AC018892.9,downstream_gene_variant,,ENST00000445404,;	A	ENST00000414820	Transcript	missense_variant,splice_region_variant	793/1388	522/945	174/314	K/N	aaG/aaT	rs760450683	1		-1	FAHD2B	HGNC	HGNC:25318	protein_coding	YES	CCDS2030.1	ENSP00000410470	Q6P2I3		UPI000004D29E	NM_001320848.1	tolerated(0.18)		5/9		hmmpanther:PTHR11820:SF84,hmmpanther:PTHR11820,Gene3D:3.90.850.10,Pfam_domain:PF01557,Superfamily_domains:SSF56529																	MODERATE	1	SNV	5			1										PASS		rs760450683	.												A	3	1	78	97086139	97086139	C	A	1	0	0	0	0	1	0	0	0	5246	695	24	2		2	FAHD2B	2	97086139	Missense_Mutation	SNP	C	C3N-01415_TP	784525	97086139	145107390	73	25359											
VWA3B	0	.	GRCh38	chr2	98290536	98290536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaattgcaaggaaatccaaCaaagaaaaccaaatcaaaaa	25	4	5	7	0	1	1	1	0	0	1	2	3	2	2	2	1	3	1	2	1	10	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.3071C>A	p.Thr1024Lys	p.T1024K	ENST00000477737	23/28	309	237	72	332	332	0	strelka-varscan-mutect	VWA3B,missense_variant,p.Thr1024Lys,ENST00000477737,NM_144992.4;VWA3B,missense_variant,p.Thr435Lys,ENST00000473149,;VWA3B,missense_variant,p.Thr146Lys,ENST00000614454,;VWA3B,non_coding_transcript_exon_variant,,ENST00000490947,;VWA3B,3_prime_UTR_variant,,ENST00000432242,;VWA3B,3_prime_UTR_variant,,ENST00000495571,;VWA3B,3_prime_UTR_variant,,ENST00000489630,;VWA3B,non_coding_transcript_exon_variant,,ENST00000409460,;	A	ENST00000477737	Transcript	missense_variant	3275/4454	3071/3885	1024/1294	T/K	aCa/aAa		1		1	VWA3B	HGNC	HGNC:28385	protein_coding	YES	CCDS42718.1	ENSP00000417955	Q502W6		UPI0000E9B173	NM_144992.4	tolerated(0.4)		23/28		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF111																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	98290536	98290536	C	A	1	0	0	0	0	1	0	0	0	17795	478	17	2		2	VWA3B	2	98290536	Missense_Mutation	SNP	C	C3N-01415_TP	1204397	98290536	143902993	74	25360											
IL1R1	0	.	GRCh38	chr2	102176654	102176654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggttctggaagaatgtcagGtaccacatgccagtccagcg	11	8	12	10	1	2	1	1	0	1	1	3	2	3	2	3	3	3	2	3	3	3	2	rs141357524		C3N-01415_TP	C3N-01415_NB	G	G																c.1605G>T	p.Arg535Ser	p.R535S	ENST00000410023	12/12	321	301	20	328	327	1	strelka-varscan-mutect	IL1R1,missense_variant,p.Arg535Ser,ENST00000410023,NM_001320978.1,NM_001320980.1,NM_001320981.1,NM_001320982.1,NM_001320983.1,NM_000877.3;IL1R1,missense_variant,p.Arg504Ser,ENST00000409929,NM_001288706.1;IL1R1,3_prime_UTR_variant,,ENST00000424272,;IL1R1,intron_variant,,ENST00000409589,;IL1R1,downstream_gene_variant,,ENST00000409329,;IL1R1,downstream_gene_variant,,ENST00000409288,;IL1R1,downstream_gene_variant,,ENST00000428279,;AC007271.3,intron_variant,,ENST00000428188,;IL1R1,3_prime_UTR_variant,,ENST00000413623,;IL1R1,downstream_gene_variant,,ENST00000422532,;	T	ENST00000410023	Transcript	missense_variant	1923/5143	1605/1710	535/569	R/S	agG/agT	rs141357524	1		1	IL1R1	HGNC	HGNC:5993	protein_coding	YES	CCDS2055.1	ENSP00000386380	P14778		UPI0000034759	NM_001320978.1,NM_001320980.1,NM_001320981.1,NM_001320982.1,NM_001320983.1,NM_000877.3	deleterious(0)		12/12		Gene3D:3.40.50.10140,Pfam_domain:PF01582,Prints_domain:PR01537,PROSITE_profiles:PS50104,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF26,SMART_domains:SM00255,Superfamily_domains:SSF52200																	MODERATE	1	SNV	1			1										PASS		rs141357524	.												T	3	4	78	102176654	102176654	G	T	1	0	0	0	0	1	0	0	0	7561	1252	44	2		2	IL1R1	2	102176654	Missense_Mutation	SNP	G	C3N-01415_TP	3886118	102176654	140016875	75	25361											
IL1RL1	0	.	GRCh38	chr2	102349131	102349131	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacggaactacaaatccagTacagatggggccagtcgtgt	12	7	11	11	2	0	1	0	0	0	1	2	2	1	2	3	3	3	1	3	3	4	2	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.1170T>A	p.Ser390Arg	p.S390R	ENST00000233954	10/11	279	245	34	351	351	0	strelka-varscan-mutect	IL1RL1,missense_variant,p.Ser390Arg,ENST00000233954,NM_016232.4;IL18R1,intron_variant,,ENST00000410040,;IL1RL1,downstream_gene_variant,,ENST00000311734,NM_003856.3;IL1RL1,downstream_gene_variant,,ENST00000404917,NM_001282408.1;IL1RL1,downstream_gene_variant,,ENST00000409584,;	A	ENST00000233954	Transcript	missense_variant	1441/2058	1170/1671	390/556	S/R	agT/agA		1		1	IL1RL1	HGNC	HGNC:5998	protein_coding	YES	CCDS2057.1	ENSP00000233954	Q01638		UPI000013C992	NM_016232.4	tolerated(0.52)		10/11		Gene3D:3.40.50.10140,Pfam_domain:PF01582,PROSITE_profiles:PS50104,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF7,SMART_domains:SM00255,Superfamily_domains:SSF52200																	MODERATE	1	SNV	1			1										PASS		rs1229510770	.												A	3	1	78	102349131	102349131	T	A	1	0	0	0	0	1	0	0	0	7566	1635	57	4		4	IL1RL1	2	102349131	Missense_Mutation	SNP	T	C3N-01415_TP	172477	102349131	139844398	76	25362											
SLC35F5	0	.	GRCh38	chr2	113725394	113725394	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccacaaccacaggaactCtgagagtactgttccaataa	16	8	6	11	0	1	1	0	1	1	1	2	3	2	2	3	1	4	2	3	1	6	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1234G>T	p.Glu412Ter	p.E412*	ENST00000245680	12/16	361	274	87	267	267	0	strelka-varscan-mutect	SLC35F5,stop_gained,p.Glu412Ter,ENST00000245680,NM_025181.3;SLC35F5,stop_gained,p.Glu175Ter,ENST00000447673,;MIR4782,upstream_gene_variant,,ENST00000577987,;SLC35F5,non_coding_transcript_exon_variant,,ENST00000470204,;SLC35F5,stop_gained,p.Glu406Ter,ENST00000409106,;SLC35F5,non_coding_transcript_exon_variant,,ENST00000459683,;SLC35F5,non_coding_transcript_exon_variant,,ENST00000485214,;SLC35F5,upstream_gene_variant,,ENST00000469702,;	A	ENST00000245680	Transcript	stop_gained	1648/4412	1234/1572	412/523	E/*	Gag/Tag		1		-1	SLC35F5	HGNC	HGNC:23617	protein_coding	YES	CCDS2119.1	ENSP00000245680	Q8WV83	A0A024RAD4	UPI000004C648	NM_025181.3			12/16		hmmpanther:PTHR23051,hmmpanther:PTHR23051:SF0,Transmembrane_helices:TMhelix																	HIGH	1	SNV	1			1										PASS		rs1438483695	.												A	4	1	78	113725394	113725394	C	A	1	0	0	0	0	0	1	0	0	14863	922	32	2		2	SLC35F5	2	113725394	Nonsense_Mutation	SNP	C	C3N-01415_TP	11376263	113725394	128468135	77	25363											
PROC	0	.	GRCh38	chr2	127423152	127423153	+	Frame_Shift_Ins	INS	-	-	CTCCC																															actgccgcagcggctgggagINSggccgcttctgccagcgcgg																								novel		C3N-01415_TP	C3N-01415_NB	-	-																c.381_382insCTCCC	p.Gly128LeufsTer10	p.G128Lfs*10	ENST00000234071	5/9	133	105	28	162	162	0	sindel-varindel-pindel	PROC,frameshift_variant,p.Gly128LeufsTer10,ENST00000234071,NM_000312.3;PROC,frameshift_variant,p.Gly128LeufsTer44,ENST00000409048,;PROC,frameshift_variant,p.Gly128LeufsTer35,ENST00000442644,;PROC,upstream_gene_variant,,ENST00000402125,;PROC,downstream_gene_variant,,ENST00000427769,;PROC,downstream_gene_variant,,ENST00000429925,;MIR4783,downstream_gene_variant,,ENST00000580343,;PROC,3_prime_UTR_variant,,ENST00000419985,;PROC,downstream_gene_variant,,ENST00000431364,;PROC,upstream_gene_variant,,ENST00000464089,;PROC,downstream_gene_variant,,ENST00000474030,;	CTCCC	ENST00000234071	Transcript	frameshift_variant	468-469/1773	381-382/1386	127-128/461	-/LX	-/CTCCC		1		1	PROC	HGNC	HGNC:9451	protein_coding	YES	CCDS2145.1	ENSP00000234071	P04070		UPI0000001646	NM_000312.3			5/9		PROSITE_profiles:PS50026,hmmpanther:PTHR24278,hmmpanther:PTHR24278:SF0,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Pfam_domain:PF00008,Gene3D:2.10.25.10,PIRSF_domain:PIRSF001143,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	HIGH	1	insertion	1			1										PASS		.	.												CTCCC	7	5	78	127423152	127423152	-	CTCCC	1	0	1	1	0	0	0	0	0	12679	991	35	0		0	PROC	2	127423152	Frame_Shift_Ins	INS	-	C3N-01415_TP	13697758	127423152	114770377	78	25364											
POTEI	0	.	GRCh38	chr2	130509158	130509158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagcagtggcggcaccaCttgcccatcttgctcctgag	7	8	13	13	1	1	1	0	1	1	0	2	2	2	2	3	3	3	3	3	3	1	2	rs745983020		C3N-01415_TP	C3N-01415_NB	C	C																c.78G>T	p.Lys26Asn	p.K26N	ENST00000451531	1/15	185	158	27	242	242	0	strelka-varscan-mutect	POTEI,missense_variant,p.Lys26Asn,ENST00000451531,NM_001277406.1;POTEI,missense_variant,p.Lys26Asn,ENST00000631234,;POTEI,missense_variant,p.Lys26Asn,ENST00000615053,;	A	ENST00000451531	Transcript	missense_variant	509/7020	78/3228	26/1075	K/N	aaG/aaT	rs745983020	1		-1	POTEI	HGNC	HGNC:37093	protein_coding	YES	CCDS59431.1	ENSP00000392718	P0CG38		UPI00006C04CB	NM_001277406.1	deleterious_low_confidence(0)		1/15																			MODERATE	1	SNV	1			1										PASS		rs745983020	.												A	3	1	78	130509158	130509158	C	A	1	0	0	0	0	1	0	0	0	12382	564	20	2		2	POTEI	2	130509158	Missense_Mutation	SNP	C	C3N-01415_TP	3086006	130509158	111684371	79	25365											
LCT	0	.	GRCh38	chr2	135817939	135817939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcatccctttccgccctgGactgattggcaaatgcttcc	7	11	9	14	1	0	1	0	1	0	0	3	2	3	2	4	3	1	3	4	3	1	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1109C>A	p.Ser370Tyr	p.S370Y	ENST00000264162	6/17	485	407	78	640	640	0	strelka-varscan-mutect	LCT,missense_variant,p.Ser370Tyr,ENST00000264162,NM_002299.2;AC011893.3,upstream_gene_variant,,ENST00000437007,;LCT,upstream_gene_variant,,ENST00000452974,;	T	ENST00000264162	Transcript	missense_variant	1120/6279	1109/5784	370/1927	S/Y	tCc/tAc		1		-1	LCT	HGNC	HGNC:6530	protein_coding	YES	CCDS2178.1	ENSP00000264162	P09848		UPI000013D4D2	NM_002299.2	deleterious(0)		6/17																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	135817939	135817939	G	T	1	0	0	0	0	1	0	0	0	8599	1174	41	2		2	LCT	2	135817939	Missense_Mutation	SNP	G	C3N-01415_TP	5308781	135817939	106375590	80	25366											
RPRM	0	.	GRCh38	chr2	153478440	153478440	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcgtccgggcctccctcCgcgaagccgtcgtcggtcac	3	7	12	19	8	1	0	1	0	0	0	7	1	4	0	5	2	1	1	5	2	1	0	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.126G>A	p.=	p.A42A	ENST00000325926	1/1	244	188	56	274	274	0	strelka-varscan-mutect	RPRM,synonymous_variant,p.=,ENST00000325926,NM_019845.2;AC012501.2,intron_variant,,ENST00000424322,;	T	ENST00000325926	Transcript	synonymous_variant	369/1471	126/330	42/109	A	gcG/gcA		1		-1	RPRM	HGNC	HGNC:24201	protein_coding	YES	CCDS2198.1	ENSP00000314946	Q9NS64		UPI0000072BEC	NM_019845.2			1/1		hmmpanther:PTHR28649,hmmpanther:PTHR28649:SF2																	LOW		SNV				1										PASS		.	.												T	2	4	78	153478440	153478440	C	T	1	0	0	0	0	0	0	0	1	13872	639	23	1		1	RPRM	2	153478440	Silent	SNP	C	C3N-01415_TP	17660501	153478440	88715089	81	25367											
PKP4	0	.	GRCh38	chr2	158577348	158577348	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtcagctagaaagatgtagGcttggagcagaatcaccaag	15	7	12	7	0	2	3	2	0	0	3	2	4	2	4	1	2	2	4	1	2	5	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.210G>C	p.Arg70Ser	p.R70S	ENST00000389759	3/22	200	174	26	265	265	0	strelka-varscan-mutect	PKP4,missense_variant,p.Arg70Ser,ENST00000389757,NM_001005476.2;PKP4,missense_variant,p.Arg70Ser,ENST00000389759,NM_001304970.1,NM_003628.4,NM_001304969.1;PKP4,missense_variant,p.Arg70Ser,ENST00000628904,;PKP4,non_coding_transcript_exon_variant,,ENST00000462335,;PKP4,missense_variant,p.Arg70Ser,ENST00000426248,;PKP4,missense_variant,p.Arg70Ser,ENST00000421462,;PKP4,missense_variant,p.Arg3Ser,ENST00000481115,;PKP4,missense_variant,p.Arg70Ser,ENST00000411900,;PKP4,3_prime_UTR_variant,,ENST00000457109,;PKP4,intron_variant,,ENST00000452162,;	C	ENST00000389759	Transcript	missense_variant	322/4443	210/3579	70/1192	R/S	agG/agC		1		1	PKP4	HGNC	HGNC:9026	protein_coding	YES	CCDS33305.1	ENSP00000374409	Q99569		UPI000044D379	NM_001304970.1,NM_003628.4,NM_001304969.1	deleterious(0.03)		3/22		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	158577348	158577348	G	C	1	0	0	0	0	1	0	0	0	12083	1194	42	4		4	PKP4	2	158577348	Missense_Mutation	SNP	G	C3N-01415_TP	5098908	158577348	83616181	82	25368											
PLA2R1	0	.	GRCh38	chr2	160020153	160020153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttctatttggaaaaatgtGgggctcaagtgtgtgccaat	10	13	12	6	0	2	0	1	0	1	0	2	1	2	1	1	3	1	2	1	3	5	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1405C>A	p.His469Asn	p.H469N	ENST00000283243	8/30	223	182	41	272	271	1	strelka-varscan-mutect	PLA2R1,missense_variant,p.His469Asn,ENST00000283243,NM_007366.4,NM_001195641.1;PLA2R1,missense_variant,p.His469Asn,ENST00000392771,NM_001007267.2;	T	ENST00000283243	Transcript	missense_variant	1612/14371	1405/4392	469/1463	H/N	Cac/Aac		1		-1	PLA2R1	HGNC	HGNC:9042	protein_coding	YES	CCDS33309.1	ENSP00000283243	Q13018		UPI00001AEA9D	NM_007366.4,NM_001195641.1	tolerated(0.74)		8/30		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF74,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	160020153	160020153	G	T	1	0	0	0	0	1	0	0	0	12106	1348	47	2		2	PLA2R1	2	160020153	Missense_Mutation	SNP	G	C3N-01415_TP	1442805	160020153	82173376	83	25369											
DPP4	0	.	GRCh38	chr2	162020640	162020640	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcattgctgatgatctTgtagaagctattaccatcaa	11	16	6	8	0	4	3	2	2	2	1	4	3	4	3	1	0	3	3	1	0	5	7	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.1117A>C	p.Lys373Gln	p.K373Q	ENST00000360534	13/26	270	255	15	322	322	0	strelka-varscan-mutect	DPP4,missense_variant,p.Lys373Gln,ENST00000360534,NM_001935.3;DPP4,non_coding_transcript_exon_variant,,ENST00000468903,;DPP4,upstream_gene_variant,,ENST00000491591,;DPP4,3_prime_UTR_variant,,ENST00000434918,;DPP4,non_coding_transcript_exon_variant,,ENST00000490286,;	G	ENST00000360534	Transcript	missense_variant	1678/3904	1117/2301	373/766	K/Q	Aag/Cag		1		-1	DPP4	HGNC	HGNC:3009	protein_coding	YES	CCDS2216.1	ENSP00000353731	P27487		UPI000004F7BF	NM_001935.3	tolerated(0.15)		13/26		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF128,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	162020640	162020640	T	G	1	0	0	0	0	1	0	0	0	4544	1821	63	5		5	DPP4	2	162020640	Missense_Mutation	SNP	T	C3N-01415_TP	2000487	162020640	80172889	84	25370											
SCN3A	0	.	GRCh38	chr2	165090492	165090492	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggttgtaataggctcataAgagactttggaggggtttga	10	13	15	3	0	1	2	1	1	0	1	1	4	1	3	0	5	0	4	0	5	3	6	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.5661T>A	p.=	p.S1887S	ENST00000283254	28/28	540	469	71	675	674	1	strelka-varscan-mutect	SCN3A,synonymous_variant,p.=,ENST00000360093,;SCN3A,synonymous_variant,p.=,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,synonymous_variant,p.=,ENST00000409101,NM_001081677.1;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000628085,;AC013463.2,intron_variant,,ENST00000431341,;AC013463.2,upstream_gene_variant,,ENST00000625505,;SCN3A,downstream_gene_variant,,ENST00000465043,;	T	ENST00000283254	Transcript	synonymous_variant	6129/9091	5661/6003	1887/2000	S	tcT/tcA		1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1			28/28		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	165090492	165090492	A	T	1	0	0	0	0	0	0	0	1	14187	59	3	4		4	SCN3A	2	165090492	Silent	SNP	A	C3N-01415_TP	3069852	165090492	77103037	85	25371											
TTN	0	.	GRCh38	chr2	178582207	178582207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatcacagcgtcctggtggGtctgcagaaattgattgaaa	11	10	13	7	1	2	3	1	2	1	1	3	4	3	4	1	3	2	1	1	3	2	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.66162C>A	p.Asp22054Glu	p.D22054E	ENST00000589042	315/363	292	267	25	353	353	0	strelka-varscan-mutect	TTN,missense_variant,p.Asp22054Glu,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Asp20413Glu,ENST00000591111,;TTN,missense_variant,p.Asp20413Glu,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Asp19486Glu,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Asp12989Glu,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Asp13181Glu,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Asp13114Glu,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-171I2.2,downstream_gene_variant,,ENST00000603521,;TTN-AS1,upstream_gene_variant,,ENST00000590743,;TTN-AS1,upstream_gene_variant,,ENST00000629117,;TTN-AS1,upstream_gene_variant,,ENST00000589907,;RP11-171I2.5,downstream_gene_variant,,ENST00000604215,;TTN-AS1,upstream_gene_variant,,ENST00000626517,;	T	ENST00000589042	Transcript	missense_variant,splice_region_variant	66387/109224	66162/107976	22054/35991	D/E	gaC/gaA		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			315/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		rs1328861562	.												T	3	4	78	178582207	178582207	G	T	1	0	0	0	0	1	0	0	0	17245	1275	44	2		2	TTN	2	178582207	Missense_Mutation	SNP	G	C3N-01415_TP	13491715	178582207	63611322	86	25372											
TTN	0	.	GRCh38	chr2	178732298	178732298	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagctgggtggcatctccCttctttaacagctgtgatgg	6	13	12	10	0	2	1	0	1	2	0	3	1	2	1	1	3	3	4	1	3	2	4	rs765248071		C3N-01415_TP	C3N-01415_NB	C	C																c.16671G>T	p.Lys5557Asn	p.K5557N	ENST00000589042	57/363	113	96	17	141	140	1	strelka-varscan-mutect	TTN,missense_variant,p.Lys5557Asn,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Lys5240Asn,ENST00000591111,;TTN,missense_variant,p.Lys5240Asn,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Lys4313Asn,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;	A	ENST00000589042	Transcript	missense_variant	16896/109224	16671/107976	5557/35991	K/N	aaG/aaT	rs765248071,COSM1529828,COSM5272941	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			57/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs765248071	.												A	3	1	78	178732298	178732298	C	A	1	0	0	0	0	1	0	0	0	17245	680	24	2		2	TTN	2	178732298	Missense_Mutation	SNP	C	C3N-01415_TP	150091	178732298	63461231	87	25373											
ZNF385B	0	.	GRCh38	chr2	179769551	179769551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcgggtggtgggggctGcccatcactcagctgcttca	4	9	16	12	1	3	0	3	0	0	0	3	0	3	0	1	5	3	3	1	5	0	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.205C>A	p.Gln69Lys	p.Q69K	ENST00000410066	3/10	269	231	38	319	319	0	strelka-varscan-mutect	ZNF385B,missense_variant,p.Gln69Lys,ENST00000410066,NM_152520.4;ZNF385B,missense_variant,p.Gln69Lys,ENST00000451732,;ZNF385B,downstream_gene_variant,,ENST00000438871,;	T	ENST00000410066	Transcript	missense_variant	809/3288	205/1416	69/471	Q/K	Cag/Aag		1		-1	ZNF385B	HGNC	HGNC:26332	protein_coding	YES	CCDS33339.1	ENSP00000386845	Q569K4		UPI00004F9C24	NM_152520.4	tolerated(1)		3/10																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	179769551	179769551	G	T	1	0	0	0	0	1	0	0	0	18449	1328	46	2		2	ZNF385B	2	179769551	Missense_Mutation	SNP	G	C3N-01415_TP	1037253	179769551	62423978	88	25374											
COL3A1	0	.	GRCh38	chr2	188991514	188991514	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtcttccaggcgaaaatGgagctcctggacccatggta	10	9	12	10	1	1	0	0	0	1	0	3	3	3	2	3	5	1	2	3	5	3	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.880G>T	p.Gly294Ter	p.G294*	ENST00000304636	12/51	285	233	52	431	430	1	strelka-mutect	COL3A1,stop_gained,p.Gly294Ter,ENST00000304636,NM_000090.3;COL3A1,stop_gained,p.Gly294Ter,ENST00000317840,;COL3A1,upstream_gene_variant,,ENST00000450867,;COL3A1,upstream_gene_variant,,ENST00000637672,;	T	ENST00000304636	Transcript	stop_gained	1050/5543	880/4401	294/1466	G/*	Gga/Tga		1		1	COL3A1	HGNC	HGNC:2201	protein_coding	YES	CCDS2297.1	ENSP00000304408	P02461		UPI0000456EBA	NM_000090.3			12/51		Low_complexity_(Seg):seg,Pfam_domain:PF01391																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	78	188991514	188991514	G	T	1	0	0	0	0	0	1	0	0	3477	1349	47	2		2	COL3A1	2	188991514	Nonsense_Mutation	SNP	G	C3N-01415_TP	9221963	188991514	53202015	89	25375											
COL5A2	0	.	GRCh38	chr2	189052179	189052179	+	Missense_Mutation	SNP	C	C	A																															taagttgacttacagcagggCctggaggtccaactctgccc																								rs150206569		C3N-01415_TP	C3N-01415_NB	C	C																c.2762G>T	p.Gly921Val	p.G921V	ENST00000374866	41/54	277	215	62	332	332	0	strelka-varscan-mutect	COL5A2,missense_variant,p.Gly921Val,ENST00000374866,NM_000393.3;COL5A2,missense_variant,p.Gly534Val,ENST00000618828,;COL5A2,downstream_gene_variant,,ENST00000470524,;	A	ENST00000374866	Transcript	missense_variant	3037/6949	2762/4500	921/1499	G/V	gGc/gTc	rs150206569	1		-1	COL5A2	HGNC	HGNC:2210	protein_coding	YES	CCDS33350.1	ENSP00000364000	P05997		UPI00006C511C	NM_000393.3	deleterious(0)		41/54		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF539,hmmpanther:PTHR24023																	MODERATE	1	SNV	1			1										PASS		rs150206569	.												A	3	1	78	189052179	189052179	C	A	1	0	0	0	0	1	0	0	0	3486	739	26	2		2	COL5A2	2	189052179	Missense_Mutation	SNP	C	C3N-01415_TP	60665	189052179	53141350	90	25376	534	2									
COL5A2	0	.	GRCh38	chr2	189052180	189052180	+	Missense_Mutation	SNP	C	C	A																															aagttgacttacagcagggcCtggaggtccaactctgcccg																										C3N-01415_TP	C3N-01415_NB	C	C																c.2761G>T	p.Gly921Cys	p.G921C	ENST00000374866	41/54	278	215	63	333	333	0	strelka-varscan-mutect	COL5A2,missense_variant,p.Gly921Cys,ENST00000374866,NM_000393.3;COL5A2,missense_variant,p.Gly534Cys,ENST00000618828,;COL5A2,downstream_gene_variant,,ENST00000470524,;	A	ENST00000374866	Transcript	missense_variant	3036/6949	2761/4500	921/1499	G/C	Ggc/Tgc	COSM3425868	1		-1	COL5A2	HGNC	HGNC:2210	protein_coding	YES	CCDS33350.1	ENSP00000364000	P05997		UPI00006C511C	NM_000393.3	deleterious(0)		41/54		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF539,hmmpanther:PTHR24023											1						MODERATE	1	SNV	1		1	1										PASS		rs1051200074	.												A	3	1	78	189052180	189052180	C	A	1	0	0	0	0	1	0	0	0	3486	681	24	2		2	COL5A2	2	189052180	Missense_Mutation	SNP	C	C3N-01415_TP	1	189052180	53141349	91	25377	534	2									
ZDBF2	0	.	GRCh38	chr2	206309288	206309288	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagtcagatgtaattgtaAagcctctactccctcaatga	13	12	7	9	0	3	3	2	2	1	1	4	3	4	3	2	0	2	2	2	0	6	4	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.4760A>G	p.Lys1587Arg	p.K1587R	ENST00000374423	5/5	272	249	23	323	322	1	strelka-varscan-mutect	ZDBF2,missense_variant,p.Lys1587Arg,ENST00000374423,NM_020923.2;ZDBF2,missense_variant,p.Lys1585Arg,ENST00000611847,NM_001285549.1;	G	ENST00000374423	Transcript	missense_variant	5146/10286	4760/7065	1587/2354	K/R	aAa/aGa		1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2	tolerated(0.05)		5/5		hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	206309288	206309288	A	G	1	0	0	0	0	1	0	0	0	18174	14	1	5		5	ZDBF2	2	206309288	Missense_Mutation	SNP	A	C3N-01415_TP	17257108	206309288	35884241	92	25378											
DES	0	.	GRCh38	chr2	219418568	219418568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctgagttcgcccgtgttcCcgcgggcgggtttcggctct	1	11	15	14	7	1	1	0	1	1	0	4	1	2	1	2	3	0	5	2	3	0	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.106C>A	p.Pro36Thr	p.P36T	ENST00000373960	1/9	136	115	21	166	166	0	strelka-varscan-mutect	DES,missense_variant,p.Pro36Thr,ENST00000373960,NM_001927.3;DES,upstream_gene_variant,,ENST00000477226,;DES,upstream_gene_variant,,ENST00000492726,;	A	ENST00000373960	Transcript	missense_variant	192/2248	106/1413	36/470	P/T	Ccg/Acg		1		1	DES	HGNC	HGNC:2770	protein_coding	YES	CCDS33383.1	ENSP00000363071	P17661	Q53SB5	UPI0000001603	NM_001927.3	tolerated(0.42)		1/9		Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF28,Pfam_domain:PF04732																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	219418568	219418568	C	A	1	0	0	0	0	1	0	0	0	4255	623	22	2		2	DES	2	219418568	Missense_Mutation	SNP	C	C3N-01415_TP	13109280	219418568	22774961	93	25379											
SPEG	0	.	GRCh38	chr2	219464548	219464548	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgatgctggtttctacActtgcaaagcggtcaatgag	9	11	13	8	2	2	1	1	1	1	0	2	2	2	1	0	3	4	3	0	3	3	3	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.2821A>G	p.Thr941Ala	p.T941A	ENST00000312358	9/41	232	202	30	247	247	0	strelka-varscan-mutect	SPEG,missense_variant,p.Thr941Ala,ENST00000312358,NM_005876.4;SPEG,missense_variant,p.Thr837Ala,ENST00000396698,;SPEG,missense_variant,p.Thr92Ala,ENST00000396688,NM_001173476.1;SPEG,missense_variant,p.Thr92Ala,ENST00000396689,;SPEG,missense_variant,p.Thr92Ala,ENST00000396686,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000498378,;SPEG,non_coding_transcript_exon_variant,,ENST00000462545,;SPEG,non_coding_transcript_exon_variant,,ENST00000463218,;SPEG,non_coding_transcript_exon_variant,,ENST00000496786,;SPEG,non_coding_transcript_exon_variant,,ENST00000464989,;SPEG,non_coding_transcript_exon_variant,,ENST00000475921,;	G	ENST00000312358	Transcript	missense_variant	2953/10782	2821/9804	941/3267	T/A	Act/Gct		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	tolerated(0.18)		9/41		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF728,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs1339089426	.												G	3	3	78	219464548	219464548	A	G	1	0	0	0	0	1	0	0	0	15387	159	6	5		5	SPEG	2	219464548	Missense_Mutation	SNP	A	C3N-01415_TP	45980	219464548	22728981	94	25380											
SPEG	0	.	GRCh38	chr2	219483170	219483170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcgggcccccccagagCgggtgtgggtgaccatgccc	4	6	16	15	2	0	2	0	1	0	1	0	2	0	2	5	3	4	1	5	3	0	0	rs762000831		C3N-01415_TP	C3N-01415_NB	C	C																c.5707C>T	p.Arg1903Trp	p.R1903W	ENST00000312358	30/41	200	173	27	194	194	0	strelka-varscan-mutect	SPEG,missense_variant,p.Arg1903Trp,ENST00000312358,NM_005876.4;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	T	ENST00000312358	Transcript	missense_variant	5839/10782	5707/9804	1903/3267	R/W	Cgg/Tgg	rs762000831,COSM20704,COSM5427678	1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	deleterious(0)		30/41		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF728											0,1,1						MODERATE		SNV	5		0,1,1	1										PASS		rs762000831	.												T	3	4	78	219483170	219483170	C	T	1	0	0	0	0	1	0	0	0	15387	759	27	1		1	SPEG	2	219483170	Missense_Mutation	SNP	C	C3N-01415_TP	18622	219483170	22710359	95	25381											
SPHKAP	0	.	GRCh38	chr2	228020094	228020094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgcaattccattccacctGggtggctccctttagctgtt	5	15	9	12	0	0	0	0	0	0	0	3	0	3	0	4	2	2	5	4	2	2	6	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.760C>A	p.Gln254Lys	p.Q254K	ENST00000392056	7/12	192	167	25	249	248	1	strelka-varscan-mutect	SPHKAP,missense_variant,p.Gln254Lys,ENST00000392056,NM_001142644.1;SPHKAP,missense_variant,p.Gln254Lys,ENST00000344657,NM_030623.3;	T	ENST00000392056	Transcript	missense_variant	807/6917	760/5103	254/1700	Q/K	Cag/Aag		1		-1	SPHKAP	HGNC	HGNC:30619	protein_coding	YES	CCDS46537.1	ENSP00000375909	Q2M3C7		UPI0000411D7E	NM_001142644.1	tolerated(0.37)		7/12		hmmpanther:PTHR10226:SF7,hmmpanther:PTHR10226																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	228020094	228020094	G	T	1	0	0	0	0	1	0	0	0	15399	1357	47	2		2	SPHKAP	2	228020094	Missense_Mutation	SNP	G	C3N-01415_TP	8536924	228020094	14173435	96	25382											
COPS7B	0	.	GRCh38	chr2	231807580	231807580	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgggagtgtccccctcacGctgagcagaggcagcccacc	9	4	12	16	2	1	2	1	1	0	1	2	3	2	3	4	2	3	3	4	2	1	0	rs762906824		C3N-01415_TP	C3N-01415_NB	G	G																c.798G>C	p.=	p.T266T	ENST00000410017	8/8	194	179	15	177	177	0	strelka-varscan-mutect	COPS7B,missense_variant,p.Ala244Pro,ENST00000350033,NM_022730.2;COPS7B,missense_variant,p.Ala137Pro,ENST00000620578,NM_001282952.1;COPS7B,missense_variant,p.Ala189Pro,ENST00000611614,NM_001282951.1;COPS7B,missense_variant,p.Ala244Pro,ENST00000410024,;COPS7B,missense_variant,p.Ala210Pro,ENST00000409295,NM_001282949.1;COPS7B,missense_variant,p.Ala137Pro,ENST00000409091,;COPS7B,missense_variant,p.Ala108Pro,ENST00000449174,;COPS7B,synonymous_variant,p.=,ENST00000373608,NM_001282950.1;COPS7B,synonymous_variant,p.=,ENST00000410017,NM_001308381.1;RP11-690I21.2,upstream_gene_variant,,ENST00000563949,;COPS7B,3_prime_UTR_variant,,ENST00000413197,;COPS7B,3_prime_UTR_variant,,ENST00000412922,;COPS7B,non_coding_transcript_exon_variant,,ENST00000461350,;COPS7B,non_coding_transcript_exon_variant,,ENST00000488111,;COPS7B,non_coding_transcript_exon_variant,,ENST00000474042,;RP11-690I21.3,downstream_gene_variant,,ENST00000569668,;	C	ENST00000410017	Transcript	synonymous_variant	908/2051	798/837	266/278	T	acG/acC	rs762906824	1		1	COPS7B	HGNC	HGNC:16760	protein_coding	YES	CCDS77539.1	ENSP00000386880		J3KQ41	UPI0000E1FA1C	NM_001308381.1			8/8																			LOW	1	SNV	3			1										PASS		rs762906824	.												C	2	2	78	231807580	231807580	G	C	1	0	0	0	0	0	0	0	1	3532	1087	38	4		4	COPS7B	2	231807580	Silent	SNP	G	C3N-01415_TP	3787486	231807580	10385949	97	25383											
NGEF	0	.	GRCh38	chr2	232883447	232883447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtccccgcggagctgagtCaaatacctggtacttgtctc	8	10	10	13	2	2	1	1	1	1	0	4	2	3	2	3	2	3	2	3	2	3	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1621G>A	p.Asp541Asn	p.D541N	ENST00000264051	12/15	77	67	10	96	96	0	strelka-varscan-mutect	NGEF,missense_variant,p.Asp541Asn,ENST00000264051,NM_019850.2;NGEF,missense_variant,p.Asp449Asn,ENST00000373552,NM_001114090.1;NGEF,missense_variant,p.Asp93Asn,ENST00000424488,;NGEF,downstream_gene_variant,,ENST00000416114,;C2orf82,downstream_gene_variant,,ENST00000481155,;NGEF,non_coding_transcript_exon_variant,,ENST00000489127,;C2orf82,downstream_gene_variant,,ENST00000467665,;NGEF,downstream_gene_variant,,ENST00000461944,;	T	ENST00000264051	Transcript	missense_variant	1900/3215	1621/2133	541/710	D/N	Gac/Aac		1		-1	NGEF	HGNC	HGNC:7807	protein_coding	YES	CCDS2500.1	ENSP00000264051	Q8N5V2		UPI000013D4AE	NM_019850.2	deleterious(0.03)		12/15		PROSITE_profiles:PS50003,hmmpanther:PTHR12845:SF8,hmmpanther:PTHR12845,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	232883447	232883447	C	T	1	0	0	0	0	1	0	0	0	10430	826	29	3		3	NGEF	2	232883447	Missense_Mutation	SNP	C	C3N-01415_TP	1075867	232883447	9310082	98	25384											
NGEF	0	.	GRCh38	chr2	232892909	232892909	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacactcacagcagctgcttAtaggtccgctcctggtaggt	8	11	10	12	1	1	0	1	0	0	0	3	0	3	0	2	3	4	5	2	3	4	4	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.1131T>A	p.Tyr377Ter	p.Y377*	ENST00000264051	7/15	132	117	15	108	108	0	strelka-varscan-mutect	NGEF,stop_gained,p.Tyr377Ter,ENST00000264051,NM_019850.2;NGEF,stop_gained,p.Tyr285Ter,ENST00000373552,NM_001114090.1;NGEF,stop_gained,p.Tyr100Ter,ENST00000416114,;NGEF,downstream_gene_variant,,ENST00000409079,;NGEF,upstream_gene_variant,,ENST00000424488,;NGEF,non_coding_transcript_exon_variant,,ENST00000420650,;NGEF,upstream_gene_variant,,ENST00000461944,;	T	ENST00000264051	Transcript	stop_gained	1410/3215	1131/2133	377/710	Y/*	taT/taA		1		-1	NGEF	HGNC	HGNC:7807	protein_coding	YES	CCDS2500.1	ENSP00000264051	Q8N5V2		UPI000013D4AE	NM_019850.2			7/15		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50010,hmmpanther:PTHR12845:SF8,hmmpanther:PTHR12845,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	78	232892909	232892909	A	T	1	0	0	0	0	0	1	0	0	10430	456	16	4		4	NGEF	2	232892909	Nonsense_Mutation	SNP	A	C3N-01415_TP	9462	232892909	9300620	99	25385											
NGEF	0	.	GRCh38	chr2	232920374	232920374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagaggttgaaccttgaGtgggggttactgagcaggca	9	9	16	7	0	0	4	0	3	0	1	0	4	0	4	2	4	4	4	2	4	2	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.738C>A	p.His246Gln	p.H246Q	ENST00000264051	5/15	143	126	17	147	147	0	strelka-varscan-mutect	NGEF,missense_variant,p.His246Gln,ENST00000264051,NM_019850.2;NGEF,missense_variant,p.His154Gln,ENST00000373552,NM_001114090.1;NGEF,missense_variant,p.His154Gln,ENST00000409079,;	T	ENST00000264051	Transcript	missense_variant	1017/3215	738/2133	246/710	H/Q	caC/caA		1		-1	NGEF	HGNC	HGNC:7807	protein_coding	YES	CCDS2500.1	ENSP00000264051	Q8N5V2		UPI000013D4AE	NM_019850.2	tolerated(0.24)		5/15		hmmpanther:PTHR12845:SF8,hmmpanther:PTHR12845																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	232920374	232920374	G	T	1	0	0	0	0	1	0	0	0	10430	1020	36	2		2	NGEF	2	232920374	Missense_Mutation	SNP	G	C3N-01415_TP	27465	232920374	9273155	100	25386											
INPP5D	0	.	GRCh38	chr2	233147529	233147529	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcaaagtcgacgttgagtCtgggaaactgatcattaaga	13	10	11	7	2	3	3	2	2	1	1	4	5	3	4	0	1	1	2	0	1	3	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.965C>G	p.Ser322Cys	p.S322C	ENST00000445964	9/27	283	256	27	308	308	0	strelka-varscan-mutect	INPP5D,missense_variant,p.Ser321Cys,ENST00000359570,NM_005541.4;INPP5D,missense_variant,p.Ser322Cys,ENST00000445964,NM_001017915.2;	G	ENST00000445964	Transcript	missense_variant	1046/4845	965/3570	322/1189	S/C	tCt/tGt		1		1	INPP5D	HGNC	HGNC:6079	protein_coding	YES	CCDS74672.1	ENSP00000405338	Q92835		UPI000006FD6D	NM_001017915.2	deleterious(0.01)		9/27		hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF69																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	233147529	233147529	C	G	1	0	0	0	0	1	0	0	0	7659	913	32	4		4	INPP5D	2	233147529	Missense_Mutation	SNP	C	C3N-01415_TP	227155	233147529	9046000	101	25387											
MROH2A	0	.	GRCh38	chr2	233832214	233832214	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttctctaccgcttcttgcTagaaacaatggcctatgtta	9	15	7	10	1	2	1	0	0	2	1	3	1	2	1	2	1	3	4	2	1	6	7	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.4814T>A	p.Leu1605Gln	p.L1605Q	ENST00000610772	40/42	353	332	21	329	328	1	strelka-varscan-mutect	MROH2A,missense_variant,p.Leu1591Gln,ENST00000389758,;MROH2A,missense_variant,p.Leu1605Gln,ENST00000610772,NM_001287395.1;HJURP,downstream_gene_variant,,ENST00000411486,NM_018410.4;HJURP,downstream_gene_variant,,ENST00000432087,NM_001282962.1;HJURP,downstream_gene_variant,,ENST00000441687,NM_001282963.1;MROH2A,non_coding_transcript_exon_variant,,ENST00000487979,;HJURP,downstream_gene_variant,,ENST00000433484,;	A	ENST00000610772	Transcript	missense_variant	4907/5324	4814/5067	1605/1688	L/Q	cTa/cAa		1		1	MROH2A	HGNC	HGNC:27936	protein_coding	YES	CCDS74674.1	ENSP00000477597		A0A087WT58	UPI00021AED4F	NM_001287395.1	deleterious(0.03)		40/42		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14,Superfamily_domains:SSF48371																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	78	233832214	233832214	T	A	1	0	0	0	0	1	0	0	0	9744	1522	53	4		4	MROH2A	2	233832214	Missense_Mutation	SNP	T	C3N-01415_TP	684685	233832214	8361315	102	25388											
ESPNL	0	.	GRCh38	chr2	238130540	238130540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgtccctgctgctgaaggGcgtgcatgggctagtacagg	6	9	15	11	1	0	1	0	1	0	0	1	1	1	1	2	3	4	5	2	3	3	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1826G>T	p.Gly609Val	p.G609V	ENST00000343063	9/9	164	140	24	204	204	0	strelka-mutect	ESPNL,missense_variant,p.Gly609Val,ENST00000343063,NM_194312.2;ESPNL,missense_variant,p.Gly565Val,ENST00000409169,;ESPNL,missense_variant,p.Gly241Val,ENST00000409506,NM_001308370.1;ESPNL,5_prime_UTR_variant,,ENST00000612395,;ESPNL,downstream_gene_variant,,ENST00000423032,;ESPNL,non_coding_transcript_exon_variant,,ENST00000477241,;	T	ENST00000343063	Transcript	missense_variant	2089/4836	1826/3018	609/1005	G/V	gGc/gTc		1		1	ESPNL	HGNC	HGNC:27937	protein_coding	YES	CCDS2525.1	ENSP00000339115	Q6ZVH7		UPI000022BC90	NM_194312.2	deleterious(0)		9/9		hmmpanther:PTHR24153:SF0,hmmpanther:PTHR24153																	MODERATE	1	SNV	2			1										PASS		rs1472528769	.												T	3	4	78	238130540	238130540	G	T	1	0	0	0	0	1	0	0	0	5117	1203	42	2		2	ESPNL	2	238130540	Missense_Mutation	SNP	G	C3N-01415_TP	4298326	238130540	4062989	103	25389											
D2HGDH	0	.	GRCh38	chr2	241751299	241751299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccaacgcaggccatgacGctgagaagctgggccacttc	9	6	12	14	2	0	2	0	2	0	1	2	3	1	2	3	2	2	4	3	2	2	1	rs772618143		C3N-01415_TP	C3N-01415_NB	G	G																c.1051G>T	p.Ala351Ser	p.A351S	ENST00000321264	8/10	380	329	51	403	402	1	strelka-varscan-mutect	D2HGDH,missense_variant,p.Ala351Ser,ENST00000321264,NM_152783.4;D2HGDH,missense_variant,p.Ala217Ser,ENST00000403782,NM_001287249.1;D2HGDH,missense_variant,p.Ala105Ser,ENST00000432449,;D2HGDH,missense_variant,p.Ala52Ser,ENST00000454048,;D2HGDH,upstream_gene_variant,,ENST00000445308,;D2HGDH,downstream_gene_variant,,ENST00000417686,;D2HGDH,downstream_gene_variant,,ENST00000437164,;AC114730.7,downstream_gene_variant,,ENST00000417267,;D2HGDH,non_coding_transcript_exon_variant,,ENST00000496252,;D2HGDH,intron_variant,,ENST00000486953,;D2HGDH,intron_variant,,ENST00000467427,;D2HGDH,3_prime_UTR_variant,,ENST00000436747,;D2HGDH,non_coding_transcript_exon_variant,,ENST00000473126,;D2HGDH,non_coding_transcript_exon_variant,,ENST00000470343,;D2HGDH,intron_variant,,ENST00000400769,;D2HGDH,upstream_gene_variant,,ENST00000468064,;	T	ENST00000321264	Transcript	missense_variant	1260/2617	1051/1566	351/521	A/S	Gct/Tct	rs772618143	1		1	D2HGDH	HGNC	HGNC:28358	protein_coding	YES	CCDS33426.1	ENSP00000315351	Q8N465		UPI0000456F51	NM_152783.4	tolerated(0.53)		8/10		Pfam_domain:PF02913,hmmpanther:PTHR11748,hmmpanther:PTHR11748:SF90,Superfamily_domains:SSF55103																	MODERATE	1	SNV	1			1										PASS		rs772618143	.												T	3	4	78	241751299	241751299	G	T	1	0	0	0	0	1	0	0	0	4015	1087	38	1		1	D2HGDH	2	241751299	Missense_Mutation	SNP	G	C3N-01415_TP	3620759	241751299	442230	104	25390											
CNTN4	0	.	GRCh38	chr3	3042400	3042400	+	Missense_Mutation	SNP	G	G	T																															ctccccactggagaagaataGaggacgaatacaaggttatg																								novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2489G>T	p.Arg830Ile	p.R830I	ENST00000397461	20/24	428	374	54	530	529	1	strelka-varscan-mutect	CNTN4,missense_variant,p.Arg830Ile,ENST00000397461,NM_001206955.1;CNTN4,missense_variant,p.Arg830Ile,ENST00000418658,NM_175607.2;CNTN4,missense_variant,p.Arg830Ile,ENST00000427331,;CNTN4,missense_variant,p.Arg502Ile,ENST00000397459,NM_001206956.1,NM_175613.2;CNTN4-AS1,intron_variant,,ENST00000442749,;CNTN4-AS1,downstream_gene_variant,,ENST00000629672,;CNTN4,3_prime_UTR_variant,,ENST00000427741,;CNTN4,non_coding_transcript_exon_variant,,ENST00000484686,;CNTN4,downstream_gene_variant,,ENST00000430505,;	T	ENST00000397461	Transcript	missense_variant	2873/5198	2489/3081	830/1026	R/I	aGa/aTa		1		1	CNTN4	HGNC	HGNC:2174	protein_coding	YES	CCDS43041.1	ENSP00000380602	Q8IWV2	A0A024R2E5	UPI000007446C	NM_001206955.1	tolerated(0.16)		20/24		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF568,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		rs1415856619	.												T	3	4	78	3042400	3042400	G	T	1	0	0	0	0	1	0	0	0	3424	942	33	2		2	CNTN4	3	3042400	Missense_Mutation	SNP	G	C3N-01415_TP		3042400	195253159	105	25391	535	2									
CNTN4	0	.	GRCh38	chr3	3042401	3042401	+	Missense_Mutation	SNP	A	A	T																															tccccactggagaagaatagAggacgaatacaaggttatga																								novel		C3N-01415_TP	C3N-01415_NB	A	A																c.2490A>T	p.Arg830Ser	p.R830S	ENST00000397461	20/24	436	383	53	528	528	0	strelka-varscan-mutect	CNTN4,missense_variant,p.Arg830Ser,ENST00000397461,NM_001206955.1;CNTN4,missense_variant,p.Arg830Ser,ENST00000418658,NM_175607.2;CNTN4,missense_variant,p.Arg830Ser,ENST00000427331,;CNTN4,missense_variant,p.Arg502Ser,ENST00000397459,NM_001206956.1,NM_175613.2;CNTN4-AS1,intron_variant,,ENST00000442749,;CNTN4-AS1,downstream_gene_variant,,ENST00000629672,;CNTN4,3_prime_UTR_variant,,ENST00000427741,;CNTN4,non_coding_transcript_exon_variant,,ENST00000484686,;CNTN4,downstream_gene_variant,,ENST00000430505,;	T	ENST00000397461	Transcript	missense_variant	2874/5198	2490/3081	830/1026	R/S	agA/agT		1		1	CNTN4	HGNC	HGNC:2174	protein_coding	YES	CCDS43041.1	ENSP00000380602	Q8IWV2	A0A024R2E5	UPI000007446C	NM_001206955.1	tolerated(0.8)		20/24		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF568,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		rs1326251219	.												T	3	4	78	3042401	3042401	A	T	1	0	0	0	0	1	0	0	0	3424	301	11	4		4	CNTN4	3	3042401	Missense_Mutation	SNP	A	C3N-01415_TP	1	3042401	195253158	106	25392	535	2									
RAD18	0	.	GRCh38	chr3	8947282	8947282	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttttcagatccggctcTgtgacagtctagaaaaaaca	13	13	7	8	1	3	3	1	1	2	2	4	3	4	3	1	1	1	1	1	1	5	4	rs761228149		C3N-01415_TP	C3N-01415_NB	T	T																c.204A>C	p.=	p.T68T	ENST00000264926	4/13	169	134	35	227	227	0	strelka-varscan-mutect	RAD18,synonymous_variant,p.=,ENST00000264926,NM_020165.3;RAD18,synonymous_variant,p.=,ENST00000421052,;RAD18,synonymous_variant,p.=,ENST00000413832,;RAD18,synonymous_variant,p.=,ENST00000418463,;RAD18,non_coding_transcript_exon_variant,,ENST00000495087,;RAD18,synonymous_variant,p.=,ENST00000415439,;RAD18,non_coding_transcript_exon_variant,,ENST00000469793,;	G	ENST00000264926	Transcript	synonymous_variant	321/5886	204/1488	68/495	T	acA/acC	rs761228149	1		-1	RAD18	HGNC	HGNC:18278	protein_coding	YES	CCDS2571.1	ENSP00000264926	Q9NS91		UPI000013D592	NM_020165.3			4/13		Gene3D:3.30.40.10,hmmpanther:PTHR14134,hmmpanther:PTHR14134:SF2,Superfamily_domains:SSF57850																	LOW	1	SNV	1			1										PASS		rs761228149	.												G	2	3	78	8947282	8947282	T	G	1	0	0	0	0	0	0	0	1	13140	1588	55	5		5	RAD18	3	8947282	Silent	SNP	T	C3N-01415_TP	5904881	8947282	189348277	107	25393											
FGD5	0	.	GRCh38	chr3	14821387	14821387	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccagcgctgacacttcAgactatgagaacattccagc	11	9	7	14	1	1	3	1	2	0	2	3	4	3	3	3	0	3	1	3	0	2	4	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.2316A>G	p.=	p.S772S	ENST00000285046	1/20	185	150	35	226	226	0	strelka-varscan-mutect	FGD5,synonymous_variant,p.=,ENST00000543601,NM_001320276.1;FGD5,synonymous_variant,p.=,ENST00000285046,NM_152536.3;FGD5,upstream_gene_variant,,ENST00000457774,;	G	ENST00000285046	Transcript	synonymous_variant	2426/5720	2316/4389	772/1462	S	tcA/tcG		1		1	FGD5	HGNC	HGNC:19117	protein_coding	YES	CCDS46767.1	ENSP00000285046	Q6ZNL6		UPI00002372AE	NM_152536.3			1/20		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	78	14821387	14821387	A	G	1	0	0	0	0	0	0	0	1	5700	175	7	5		5	FGD5	3	14821387	Silent	SNP	A	C3N-01415_TP	5874105	14821387	183474172	108	25394											
TRAK1	0	.	GRCh38	chr3	42223418	42223418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacctcgtggacaaagtcaGgaggtttggggtggccaaag	11	7	15	8	1	1	0	1	0	0	0	2	2	1	2	2	6	1	1	2	6	3	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2543G>T	p.Arg848Met	p.R848M	ENST00000327628	16/16	390	317	73	430	430	0	strelka-varscan	TRAK1,missense_variant,p.Arg744Met,ENST00000487159,;TRAK1,missense_variant,p.Arg848Met,ENST00000327628,NM_001042646.2,NM_001265608.1;TRAK1,missense_variant,p.Arg790Met,ENST00000396175,;RNU4-78P,downstream_gene_variant,,ENST00000410940,;	T	ENST00000327628	Transcript	missense_variant	2943/5293	2543/2862	848/953	R/M	aGg/aTg		1		1	TRAK1	HGNC	HGNC:29947	protein_coding	YES	CCDS43072.1	ENSP00000328998	Q9UPV9	A0A024R2M0	UPI0000139F52	NM_001042646.2,NM_001265608.1	deleterious(0)		16/16		hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	42223418	42223418	G	T	1	0	0	0	0	1	0	0	0	16932	1000	35	2		2	TRAK1	3	42223418	Missense_Mutation	SNP	G	C3N-01415_TP	27402031	42223418	156072141	109	25395											
KIAA1143	0	.	GRCh38	chr3	44753536	44753536	+	Silent	SNP	T	T	A																															tatatgattcttccatcggcTggagttggttcttcatctga																								novel		C3N-01415_TP	C3N-01415_NB	T	T																c.270A>T	p.=	p.P90P	ENST00000296121	3/3	218	178	40	314	314	0	strelka-varscan	KIAA1143,synonymous_variant,p.=,ENST00000296121,NM_001320334.1,NM_020696.3;KIAA1143,non_coding_transcript_exon_variant,,ENST00000484437,;	A	ENST00000296121	Transcript	synonymous_variant	330/5122	270/465	90/154	P	ccA/ccT		1		-1	KIAA1143	HGNC	HGNC:29198	protein_coding	YES	CCDS2721.1	ENSP00000296121	Q96AT1	A0A024R2T2	UPI000006EAE5	NM_001320334.1,NM_020696.3			3/3		hmmpanther:PTHR31195,hmmpanther:PTHR31195:SF3,Pfam_domain:PF15377																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	44753536	44753536	T	A	1	0	0	0	0	0	0	0	1	8102	1567	55	4		4	KIAA1143	3	44753536	Silent	SNP	T	C3N-01415_TP	2530118	44753536	153542023	110	25396	536	2									
KIAA1143	0	.	GRCh38	chr3	44753538	44753538	+	Missense_Mutation	SNP	G	G	A																															tatgattcttccatcggctgGagttggttcttcatctgagc																										C3N-01415_TP	C3N-01415_NB	G	G																c.268C>T	p.Pro90Ser	p.P90S	ENST00000296121	3/3	211	173	38	309	309	0	strelka-varscan	KIAA1143,missense_variant,p.Pro90Ser,ENST00000296121,NM_001320334.1,NM_020696.3;KIAA1143,non_coding_transcript_exon_variant,,ENST00000484437,;	A	ENST00000296121	Transcript	missense_variant	328/5122	268/465	90/154	P/S	Cca/Tca	COSM3594269	1		-1	KIAA1143	HGNC	HGNC:29198	protein_coding	YES	CCDS2721.1	ENSP00000296121	Q96AT1	A0A024R2T2	UPI000006EAE5	NM_001320334.1,NM_020696.3	tolerated(0.13)		3/3		hmmpanther:PTHR31195,hmmpanther:PTHR31195:SF3,Pfam_domain:PF15377											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	78	44753538	44753538	G	A	1	0	0	0	0	1	0	0	0	8102	1174	41	3		3	KIAA1143	3	44753538	Missense_Mutation	SNP	G	C3N-01415_TP	2	44753538	153542021	111	25397	536	2									
SLC6A20	0	.	GRCh38	chr3	45772537	45772537	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtacatgaggccattggTggctccgtggagcgtgaggc	7	9	16	9	2	0	2	0	2	0	0	1	3	1	3	2	5	2	2	2	5	1	2			C3N-01415_TP	C3N-01415_NB	T	T																c.661A>G	p.Thr221Ala	p.T221A	ENST00000358525	5/11	150	136	14	225	224	1	strelka-varscan	SLC6A20,missense_variant,p.Thr221Ala,ENST00000358525,NM_020208.3;SLC6A20,missense_variant,p.Thr221Ala,ENST00000456124,;SLC6A20,missense_variant,p.Thr174Ala,ENST00000413781,;SLC6A20,intron_variant,,ENST00000353278,NM_022405.3;SLC6A20,upstream_gene_variant,,ENST00000473146,;	C	ENST00000358525	Transcript	missense_variant	777/5423	661/1779	221/592	T/A	Acc/Gcc	COSM144089	1		-1	SLC6A20	HGNC	HGNC:30927	protein_coding	YES	CCDS43077.1	ENSP00000346298	Q9NP91		UPI0000046064	NM_020208.3	tolerated(0.21)		5/11		PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF44,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	78	45772537	45772537	T	C	1	0	0	0	0	1	0	0	0	14967	1696	59	5		5	SLC6A20	3	45772537	Missense_Mutation	SNP	T	C3N-01415_TP	1018999	45772537	152523022	112	25398											
CCR9	0	.	GRCh38	chr3	45901136	45901136	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagtggaagttccagacCttcatgtgcaaggtggtcaa	11	9	12	9	0	2	1	2	0	0	1	3	3	3	2	3	3	1	2	3	3	3	2	rs72890686		C3N-01415_TP	C3N-01415_NB	C	C																c.348C>A	p.=	p.T116T	ENST00000357632	3/3	240	208	32	291	291	0	strelka-varscan	CCR9,synonymous_variant,p.=,ENST00000355983,NM_001256369.1;CCR9,synonymous_variant,p.=,ENST00000357632,NM_031200.2;CCR9,synonymous_variant,p.=,ENST00000395963,NM_006641.3;CCR9,3_prime_UTR_variant,,ENST00000422395,;LZTFL1,intron_variant,,ENST00000536047,NM_001276378.1;LZTFL1,intron_variant,,ENST00000539217,NM_001276379.1;Y_RNA,upstream_gene_variant,,ENST00000364765,;LZTFL1,intron_variant,,ENST00000483279,;LZTFL1,intron_variant,,ENST00000472635,;LZTFL1,intron_variant,,ENST00000492333,;LZTFL1,intron_variant,,ENST00000418700,;LZTFL1,intron_variant,,ENST00000448111,;	A	ENST00000357632	Transcript	synonymous_variant	528/2569	348/1110	116/369	T	acC/acA	rs72890686	1		1	CCR9	HGNC	HGNC:1610	protein_coding	YES	CCDS2732.1	ENSP00000350256	P51686		UPI0000039DBB	NM_031200.2			3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR10489,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	45901136	45901136	C	A	1	0	0	0	0	0	0	0	1	2648	668	24	2		2	CCR9	3	45901136	Silent	SNP	C	C3N-01415_TP	128599	45901136	152394423	113	25399											
WDR6	0	.	GRCh38	chr3	49011470	49011470	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattacaggcgtgagccaccGcacccggccgagaccaagga	11	3	13	14	4	0	2	0	1	0	1	0	5	0	3	5	3	2	1	5	3	2	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.150G>T	p.=	p.P50P	ENST00000438660	2/3	151	129	22	195	195	0	strelka-varscan	WDR6,synonymous_variant,p.=,ENST00000438660,;WDR6,synonymous_variant,p.=,ENST00000627177,;WDR6,5_prime_UTR_variant,,ENST00000429900,;WDR6,5_prime_UTR_variant,,ENST00000419837,;WDR6,intron_variant,,ENST00000395474,;WDR6,intron_variant,,ENST00000610967,NM_001320547.1,NM_018031.3;WDR6,intron_variant,,ENST00000608424,NM_001320547.1;WDR6,intron_variant,,ENST00000448293,;WDR6,intron_variant,,ENST00000415265,;WDR6,intron_variant,,ENST00000489427,;WDR6,intron_variant,,ENST00000491365,;P4HTM,downstream_gene_variant,,ENST00000343546,NM_177938.2;P4HTM,downstream_gene_variant,,ENST00000383729,NM_177939.2;DALRD3,downstream_gene_variant,,ENST00000440857,;DALRD3,downstream_gene_variant,,ENST00000313778,NM_018114.5;WDR6,upstream_gene_variant,,ENST00000615452,;DALRD3,downstream_gene_variant,,ENST00000341949,NM_001009996.2;DALRD3,downstream_gene_variant,,ENST00000441576,NM_001276405.1;P4HTM,downstream_gene_variant,,ENST00000491739,;DALRD3,downstream_gene_variant,,ENST00000438585,;WDR6,intron_variant,,ENST00000489684,;WDR6,intron_variant,,ENST00000488572,;WDR6,intron_variant,,ENST00000462064,;WDR6,intron_variant,,ENST00000473238,;WDR6,intron_variant,,ENST00000472878,;WDR6,intron_variant,,ENST00000461687,;WDR6,synonymous_variant,p.=,ENST00000452875,;WDR6,intron_variant,,ENST00000420783,;WDR6,intron_variant,,ENST00000471162,;P4HTM,downstream_gene_variant,,ENST00000484115,;DALRD3,downstream_gene_variant,,ENST00000498794,;P4HTM,downstream_gene_variant,,ENST00000472301,;DALRD3,downstream_gene_variant,,ENST00000460505,;DALRD3,downstream_gene_variant,,ENST00000484831,;DALRD3,downstream_gene_variant,,ENST00000467457,;DALRD3,downstream_gene_variant,,ENST00000498498,;DALRD3,downstream_gene_variant,,ENST00000472331,;DALRD3,downstream_gene_variant,,ENST00000481001,;WDR6,upstream_gene_variant,,ENST00000498023,;WDR6,upstream_gene_variant,,ENST00000492780,;	T	ENST00000438660	Transcript	synonymous_variant	189/852	150/813	50/271	P	ccG/ccT		1		1	WDR6	HGNC	HGNC:12758	protein_coding			ENSP00000387692		C9K020	UPI000198CA5F				2/3																			LOW		SNV	5			1										PASS		.	.												T	2	4	78	49011470	49011470	G	T	1	0	0	0	0	0	0	0	1	17869	1074	38	1		1	WDR6	3	49011470	Silent	SNP	G	C3N-01415_TP	3110334	49011470	149284089	114	25400											
MON1A	0	.	GRCh38	chr3	49911882	49911882	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgatctggcgcatgTctgtaggcagcggcggggga	5	8	18	10	3	2	1	0	1	2	0	2	2	2	2	1	6	1	4	1	6	1	1	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.548A>T	p.Asp183Val	p.D183V	ENST00000296473	3/6	211	192	19	249	249	0	strelka-varscan	MON1A,missense_variant,p.Asp94Val,ENST00000417270,;MON1A,missense_variant,p.Asp183Val,ENST00000296473,NM_032355.3;MON1A,intron_variant,,ENST00000455683,NM_001142501.1;CTD-2330K9.3,intron_variant,,ENST00000419183,;MON1A,non_coding_transcript_exon_variant,,ENST00000483022,;MON1A,non_coding_transcript_exon_variant,,ENST00000484985,;MON1A,non_coding_transcript_exon_variant,,ENST00000493206,;MON1A,intron_variant,,ENST00000486107,;MON1A,downstream_gene_variant,,ENST00000473451,;	A	ENST00000296473	Transcript	missense_variant	807/2370	548/1959	183/652	D/V	gAc/gTc		1		-1	MON1A	HGNC	HGNC:28207	protein_coding	YES	CCDS2808.2	ENSP00000296473		X6R3V9	UPI0000EE2989	NM_032355.3	tolerated(0.07)		3/6		hmmpanther:PTHR13027,hmmpanther:PTHR13027:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	49911882	49911882	T	A	1	0	0	0	0	1	0	0	0	9662	1667	58	4		4	MON1A	3	49911882	Missense_Mutation	SNP	T	C3N-01415_TP	900412	49911882	148383677	115	25401											
WNT5A	0	.	GRCh38	chr3	55470532	55470532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcacttgcaggccacatCagccaggttgtacaccgtct	9	9	10	13	1	2	0	1	0	1	0	2	0	2	0	3	3	3	4	3	3	1	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.703G>A	p.Asp235Asn	p.D235N	ENST00000264634	5/5	51	40	11	72	72	0	strelka-varscan	WNT5A,missense_variant,p.Asp235Asn,ENST00000264634,NM_003392.4;WNT5A,missense_variant,p.Asp235Asn,ENST00000474267,;WNT5A,missense_variant,p.Asp220Asn,ENST00000497027,NM_001256105.1;WNT5A,intron_variant,,ENST00000614415,;WNT5A,downstream_gene_variant,,ENST00000482079,;WNT5A,upstream_gene_variant,,ENST00000493406,;	T	ENST00000264634	Transcript	missense_variant	1360/6176	703/1143	235/380	D/N	Gat/Aat		1		-1	WNT5A	HGNC	HGNC:12784	protein_coding	YES	CCDS46850.1	ENSP00000264634	P41221		UPI0000231C66	NM_003392.4	tolerated(0.18)		5/5		hmmpanther:PTHR12027:SF33,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	55470532	55470532	C	T	1	0	0	0	0	1	0	0	0	17947	826	29	3		3	WNT5A	3	55470532	Missense_Mutation	SNP	C	C3N-01415_TP	5558650	55470532	142825027	116	25402											
C3orf67	0	.	GRCh38	chr3	58867917	58867917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgagggggatgcggatgCataatatgtagattggctgc	9	12	15	5	1	1	2	0	1	1	1	1	4	1	4	0	4	3	3	0	4	3	5	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.660G>T	p.Met220Ile	p.M220I	ENST00000295966	10/16	107	83	24	143	143	0	strelka-varscan	C3orf67,missense_variant,p.Met220Ile,ENST00000295966,NM_198463.2;C3orf67,missense_variant,p.Met220Ile,ENST00000482387,;C3orf67,intron_variant,,ENST00000472469,;C3orf67-AS1,intron_variant,,ENST00000482372,;C3orf67-AS1,intron_variant,,ENST00000493123,;C3orf67-AS1,intron_variant,,ENST00000492031,;C3orf67-AS1,intron_variant,,ENST00000463703,;C3orf67,3_prime_UTR_variant,,ENST00000468415,;	A	ENST00000295966	Transcript	missense_variant	1164/2650	660/1692	220/563	M/I	atG/atT		1		-1	C3orf67	HGNC	HGNC:24763	protein_coding	YES	CCDS33776.1	ENSP00000295966	Q6ZVT6		UPI00001C098C	NM_198463.2	tolerated(0.34)		10/16		hmmpanther:PTHR12458																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	78	58867917	58867917	C	A	1	0	0	0	0	1	0	0	0	2071	710	25	2		2	C3orf67	3	58867917	Missense_Mutation	SNP	C	C3N-01415_TP	3397385	58867917	139427642	117	25403											
CCDC80	0	.	GRCh38	chr3	112616716	112616716	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaggtgatgtacctggatAggaagttctccagggactgc	11	9	13	8	0	1	1	0	1	1	0	2	4	1	4	2	4	2	2	2	4	4	3	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.2315T>C	p.Leu772Pro	p.L772P	ENST00000206423	5/8	239	181	58	211	211	0	strelka-varscan	CCDC80,missense_variant,p.Leu772Pro,ENST00000206423,NM_199511.2;CCDC80,missense_variant,p.Leu772Pro,ENST00000439685,NM_199512.2;CCDC80,missense_variant,p.Leu170Pro,ENST00000461431,;	G	ENST00000206423	Transcript	missense_variant	3269/12430	2315/2853	772/950	L/P	cTa/cCa		1		-1	CCDC80	HGNC	HGNC:30649	protein_coding	YES	CCDS2968.1	ENSP00000206423	Q76M96		UPI000004EE7F	NM_199511.2	deleterious(0)		5/8		Pfam_domain:PF13778,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	112616716	112616716	A	G	1	0	0	0	0	1	0	0	0	2552	420	15	5		5	CCDC80	3	112616716	Missense_Mutation	SNP	A	C3N-01415_TP	53748799	112616716	85678843	118	25404											
SPICE1	0	.	GRCh38	chr3	113453951	113453951	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaacagtccttctcaataCtatagataagaatttaaaaa	18	13	4	6	0	1	3	1	1	1	2	3	3	2	3	1	0	2	0	1	0	10	8	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1658-1G>C		p.X553_splice	ENST00000295872		126	118	8	140	140	0	strelka-varscan	SPICE1,splice_acceptor_variant,,ENST00000295872,NM_144718.3;SPICE1,intron_variant,,ENST00000467618,;SPICE1,splice_acceptor_variant,,ENST00000496105,;	G	ENST00000295872	Transcript	splice_acceptor_variant	-/5417	1658/2568	553/855				1		-1	SPICE1	HGNC	HGNC:25083	protein_coding	YES	CCDS2973.1	ENSP00000295872	Q8N0Z3		UPI000007328D	NM_144718.3				13/17																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	78	113453951	113453951	C	G	1	0	0	0	0	0	0	1	0	15403	579	20	4		4	SPICE1	3	113453951	Splice_Site	SNP	C	C3N-01415_TP	837235	113453951	84841608	119	25405											
PARP14	0	.	GRCh38	chr3	122727852	122727852	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctctggaatagctaccAggcaaagaaaaaaactatgg	18	7	9	7	0	1	2	0	0	1	2	2	3	1	3	1	3	3	2	1	3	8	3	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.4982A>T	p.Gln1661Leu	p.Q1661L	ENST00000474629	16/17	105	77	28	86	86	0	strelka-varscan	PARP14,missense_variant,p.Gln1661Leu,ENST00000474629,NM_017554.2;PARP14,3_prime_UTR_variant,,ENST00000460683,;	T	ENST00000474629	Transcript	missense_variant	5248/7915	4982/5406	1661/1801	Q/L	cAg/cTg		1		1	PARP14	HGNC	HGNC:29232	protein_coding	YES	CCDS46894.1	ENSP00000418194	Q460N5		UPI00015A20AB	NM_017554.2	deleterious(0)		16/17		PROSITE_profiles:PS51059,hmmpanther:PTHR14453:SF65,hmmpanther:PTHR14453,Gene3D:3.90.228.10,Pfam_domain:PF00644,Superfamily_domains:SSF56399																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	78	122727852	122727852	A	T	1	0	0	0	0	1	0	0	0	11538	188	7	4		4	PARP14	3	122727852	Missense_Mutation	SNP	A	C3N-01415_TP	9273901	122727852	75567707	120	25406											
ALDH1L1	0	.	GRCh38	chr3	126136778	126136778	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcacacttccatcggtggGattgatggtctcagaggtct	8	12	11	10	1	3	2	2	1	2	1	6	3	4	3	1	4	0	0	1	4	0	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1360C>A	p.Pro454Thr	p.P454T	ENST00000273450	11/23	265	234	31	238	238	0	strelka-varscan	ALDH1L1,missense_variant,p.Pro444Thr,ENST00000393434,NM_012190.3;ALDH1L1,missense_variant,p.Pro454Thr,ENST00000273450,NM_001270364.1;ALDH1L1,missense_variant,p.Pro444Thr,ENST00000472186,;ALDH1L1,missense_variant,p.Pro444Thr,ENST00000455064,;ALDH1L1,missense_variant,p.Pro444Thr,ENST00000393431,;ALDH1L1,missense_variant,p.Pro343Thr,ENST00000452905,NM_001270365.1;ALDH1L1,3_prime_UTR_variant,,ENST00000473607,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000476245,;	T	ENST00000273450	Transcript	missense_variant	1578/3179	1360/2739	454/912	P/T	Ccc/Acc		1		-1	ALDH1L1	HGNC	HGNC:3978	protein_coding	YES	CCDS58851.1	ENSP00000273450	O75891		UPI0000425C57	NM_001270364.1	deleterious(0.01)		11/23		Gene3D:3.40.605.10,Pfam_domain:PF00171,PIRSF_domain:PIRSF036489,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF120,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	126136778	126136778	G	T	1	0	0	0	0	1	0	0	0	594	1174	41	2		2	ALDH1L1	3	126136778	Missense_Mutation	SNP	G	C3N-01415_TP	3408926	126136778	72158781	121	25407											
ACAD9	0	.	GRCh38	chr3	128908204	128908204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaaccaatgagattctccGgatgtacatcgccctgacgg	10	8	12	11	3	1	2	0	2	1	1	3	5	1	4	3	3	2	1	3	3	3	2	rs781156571		C3N-01415_TP	C3N-01415_NB	G	G																c.1298G>A	p.Arg433Gln	p.R433Q	ENST00000308982	13/18	472	358	114	424	424	0	strelka-varscan	ACAD9,missense_variant,p.Arg433Gln,ENST00000308982,NM_014049.4;KIAA1257,downstream_gene_variant,,ENST00000511438,;RP11-723O4.6,downstream_gene_variant,,ENST00000508239,;ACAD9,non_coding_transcript_exon_variant,,ENST00000511526,;ACAD9,missense_variant,p.Arg196Gln,ENST00000508971,;ACAD9,3_prime_UTR_variant,,ENST00000511227,;ACAD9,3_prime_UTR_variant,,ENST00000505867,;ACAD9,3_prime_UTR_variant,,ENST00000505192,;ACAD9,non_coding_transcript_exon_variant,,ENST00000511325,;	A	ENST00000308982	Transcript	missense_variant	1379/2454	1298/1866	433/621	R/Q	cGg/cAg	rs781156571,COSM1418781	1		1	ACAD9	HGNC	HGNC:21497	protein_coding	YES	CCDS3053.1	ENSP00000312618	Q9H845		UPI00000498C3	NM_014049.4	deleterious(0)		13/18		hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF121,Gene3D:1.20.140.10,Pfam_domain:PF00441,Superfamily_domains:SSF47203										pathogenic	0,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	78	128908204	128908204	G	A	1	0	0	0	0	1	0	0	0	154	1116	39	1		1	ACAD9	3	128908204	Missense_Mutation	SNP	G	C3N-01415_TP	2771426	128908204	69387355	122	25408											
IFT122	0	.	GRCh38	chr3	129502731	129502731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgatcgacatcgcccgcaAactggacaaggctgagcgcg	10	6	13	12	5	0	2	0	2	0	0	2	4	0	3	1	2	2	3	1	2	2	1	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.2549A>G	p.Lys850Arg	p.K850R	ENST00000296266	21/31	639	484	155	527	526	1	strelka-varscan	IFT122,missense_variant,p.Lys649Arg,ENST00000431818,NM_001280545.1;IFT122,missense_variant,p.Lys850Arg,ENST00000296266,NM_052985.3;IFT122,missense_variant,p.Lys590Arg,ENST00000440957,NM_001280546.1;IFT122,missense_variant,p.Lys799Arg,ENST00000348417,NM_052989.2;IFT122,missense_variant,p.Lys740Arg,ENST00000347300,NM_018262.3;IFT122,missense_variant,p.Lys791Arg,ENST00000507564,NM_001280541.1;IFT122,missense_variant,p.Lys688Arg,ENST00000349441,NM_052990.2;IFT122,missense_variant,p.Lys675Arg,ENST00000504021,;IFT122,missense_variant,p.Lys296Arg,ENST00000509522,;IFT122,missense_variant,p.Lys161Arg,ENST00000507221,;IFT122,non_coding_transcript_exon_variant,,ENST00000513932,;IFT122,3_prime_UTR_variant,,ENST00000512220,;IFT122,non_coding_transcript_exon_variant,,ENST00000506507,;IFT122,non_coding_transcript_exon_variant,,ENST00000511425,;	G	ENST00000296266	Transcript	missense_variant	2741/4151	2549/3879	850/1292	K/R	aAa/aGa		1		1	IFT122	HGNC	HGNC:13556	protein_coding	YES	CCDS3060.1	ENSP00000296266	Q9HBG6		UPI0000141042	NM_052985.3	tolerated(0.48)		21/31		hmmpanther:PTHR12764,hmmpanther:PTHR12764:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	129502731	129502731	A	G	1	0	0	0	0	1	0	0	0	7459	14	1	5		5	IFT122	3	129502731	Missense_Mutation	SNP	A	C3N-01415_TP	594527	129502731	68792828	123	25409											
COL6A5	0	.	GRCh38	chr3	130469065	130469065	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctaacactgaagaatgccCtgtctacctggaatttgatt	11	12	8	10	0	1	3	0	2	1	1	1	4	1	4	3	1	3	0	3	1	5	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.7049C>A	p.Pro2350His	p.P2350H	ENST00000265379	39/43	497	453	44	518	517	1	strelka-varscan	COL6A5,missense_variant,p.Pro2350His,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,missense_variant,p.Pro606His,ENST00000512836,;COL6A5,missense_variant,p.Pro189His,ENST00000512482,;COL6A5,missense_variant,p.Pro297His,ENST00000373157,;COL6A5,missense_variant,p.Pro2354His,ENST00000312481,;	A	ENST00000265379	Transcript	missense_variant	7543/9214	7049/7836	2350/2611	P/H	cCt/cAt		1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1	deleterious(0)		39/43		PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	78	130469065	130469065	C	A	1	0	0	0	0	1	0	0	0	3491	681	24	2		2	COL6A5	3	130469065	Missense_Mutation	SNP	C	C3N-01415_TP	966334	130469065	67826494	124	25410											
SLCO2A1	0	.	GRCh38	chr3	133948568	133948568	+	Frame_Shift_Del	DEL	C	C	-																															tggcataggctgctgaggtgCcatactgcttctccaggaac																								novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1073delG	p.Gly358AlafsTer14	p.G358Afs*14	ENST00000310926	8/14	145	110	35	149	149	0	sindel-varindel-pindel	SLCO2A1,frameshift_variant,p.Gly358AlafsTer14,ENST00000310926,NM_005630.2;SLCO2A1,frameshift_variant,p.Gly282AlafsTer14,ENST00000493729,;SLCO2A1,frameshift_variant,p.Gly358AlafsTer156,ENST00000481359,;SLCO2A1,non_coding_transcript_exon_variant,,ENST00000462770,;SLCO2A1,downstream_gene_variant,,ENST00000464676,;SLCO2A1,downstream_gene_variant,,ENST00000477061,;	-	ENST00000310926	Transcript	frameshift_variant	1347/4223	1073/1932	358/643	G/X	gGc/gc		1		-1	SLCO2A1	HGNC	HGNC:10955	protein_coding	YES	CCDS3084.1	ENSP00000311291	Q92959		UPI000013F0AD	NM_005630.2			8/14		PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF14,TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	78	133948568	133948568	C	-	1	0	1	0	1	0	0	0	0	15013	739	26	0		0	SLCO2A1	3	133948568	Frame_Shift_Del	DEL	C	C3N-01415_TP	3479503	133948568	64346991	125	25411											
SLC35G2	0	.	GRCh38	chr3	136855044	136855048	+	Frame_Shift_Del	DEL	CCACT	CCACT	-																															agttcctcccagcaatgggaCcactatgtggagagccacaa																								novel		C3N-01415_TP	C3N-01415_NB	CCACT	CCACT																c.584_588delCCACT	p.Thr195AsnfsTer20	p.T195Nfs*20	ENST00000446465	2/2	526	469	57	565	565	0	sindel-varindel-pindel	SLC35G2,frameshift_variant,p.Thr195AsnfsTer20,ENST00000446465,NM_001097599.1,NM_025246.2;SLC35G2,frameshift_variant,p.Thr195AsnfsTer20,ENST00000393079,NM_001097600.1;NCK1-AS1,intron_variant,,ENST00000461864,;NCK1-AS1,intron_variant,,ENST00000474250,;NCK1-AS1,intron_variant,,ENST00000470236,;	-	ENST00000446465	Transcript	frameshift_variant	1212-1216/2060	584-588/1239	195-196/412	TT/X	aCCACT/a		1		1	SLC35G2	HGNC	HGNC:28480	protein_coding	YES	CCDS3091.1	ENSP00000400839	Q8TBE7		UPI000013EB08	NM_001097599.1,NM_025246.2			2/2		hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF52,Pfam_domain:PF00892,Superfamily_domains:0043518,Transmembrane_helices:TMhelix																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	78	136855044	136855044	CCACT	-	1	0	1	0	1	0	0	0	0	14866	507	18	0		0	SLC35G2	3	136855044	Frame_Shift_Del	DEL	CCACT	C3N-01415_TP	2906476	136855044	61440515	126	25412											
CLSTN2	0	.	GRCh38	chr3	140175970	140175970	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcaataagcacaagccatgGatcgagacttcatatcatgg	14	9	9	9	1	3	1	3	0	0	1	4	3	3	2	1	2	2	1	1	2	4	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.129G>A	p.Trp43Ter	p.W43*	ENST00000458420	2/17	160	132	28	170	170	0	strelka-varscan	CLSTN2,stop_gained,p.Trp43Ter,ENST00000458420,NM_022131.2;CLSTN2,non_coding_transcript_exon_variant,,ENST00000511524,;	A	ENST00000458420	Transcript	stop_gained	319/14202	129/2868	43/955	W/*	tgG/tgA		1		1	CLSTN2	HGNC	HGNC:17448	protein_coding	YES	CCDS3112.1	ENSP00000402460	Q9H4D0		UPI00001B0051	NM_022131.2			2/17		hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	78	140175970	140175970	G	A	1	0	0	0	0	0	1	0	0	3334	1183	41	3		3	CLSTN2	3	140175970	Nonsense_Mutation	SNP	G	C3N-01415_TP	3320926	140175970	58119589	127	25413											
PLOD2	0	.	GRCh38	chr3	146070776	146070776	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttaacaggaagtccttCatgcaaatgtgtgagtctcc	11	14	8	8	0	2	1	1	1	1	0	4	2	3	2	2	1	2	1	2	1	3	4			C3N-01415_TP	C3N-01415_NB	C	C																c.2218G>T	p.Glu740Ter	p.E740*	ENST00000282903	20/20	326	288	38	343	342	1	strelka-varscan	PLOD2,stop_gained,p.Glu740Ter,ENST00000282903,NM_182943.2;PLOD2,stop_gained,p.Glu719Ter,ENST00000360060,NM_000935.2;PLOD2,stop_gained,p.Glu400Ter,ENST00000461497,;PLOD2,stop_gained,p.Glu685Ter,ENST00000494950,;RP11-274H2.2,intron_variant,,ENST00000480247,;RP11-274H2.3,upstream_gene_variant,,ENST00000490375,;RP11-274H2.2,downstream_gene_variant,,ENST00000494745,;PLOD2,non_coding_transcript_exon_variant,,ENST00000495700,;PLOD2,downstream_gene_variant,,ENST00000475505,;	A	ENST00000282903	Transcript	stop_gained	2396/3732	2218/2277	740/758	E/*	Gaa/Taa	COSM4802559	1		-1	PLOD2	HGNC	HGNC:9082	protein_coding	YES	CCDS3132.1	ENSP00000282903	O00469		UPI0000049C44	NM_182943.2			20/20		PROSITE_profiles:PS51471,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF6,Pfam_domain:PF03171,SMART_domains:SM00702											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	78	146070776	146070776	C	A	1	0	0	0	0	0	1	0	0	12198	835	29	2		2	PLOD2	3	146070776	Nonsense_Mutation	SNP	C	C3N-01415_TP	5894806	146070776	52224783	128	25414											
P2RY1	0	.	GRCh38	chr3	152836264	152836264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaccccctcaagtccctggGccggctcaaaaagaagaatg	12	6	10	13	1	2	2	2	0	0	2	3	2	3	2	4	2	1	2	4	2	6	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.482G>T	p.Gly161Val	p.G161V	ENST00000305097	1/1	340	293	47	311	311	0	strelka-varscan	P2RY1,missense_variant,p.Gly161Val,ENST00000305097,NM_002563.3;	T	ENST00000305097	Transcript	missense_variant	1572/6747	482/1122	161/373	G/V	gGc/gTc		1		1	P2RY1	HGNC	HGNC:8539	protein_coding	YES	CCDS3169.1	ENSP00000304767	P47900		UPI0000001C06	NM_002563.3	tolerated(0.26)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF2,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	78	152836264	152836264	G	T	1	0	0	0	0	1	0	0	0	11419	1203	42	2		2	P2RY1	3	152836264	Missense_Mutation	SNP	G	C3N-01415_TP	6765488	152836264	45459295	129	25415											
MME	0	.	GRCh38	chr3	155172546	155172546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctatctctaggtgtggtgtgGaacctataggccagagtatg	9	12	13	7	0	1	1	0	0	1	1	2	2	1	2	2	4	1	1	2	4	6	5	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2087G>T	p.Gly696Val	p.G696V	ENST00000460393	22/23	636	475	161	604	604	0	strelka-varscan	MME,missense_variant,p.Gly696Val,ENST00000460393,NM_000902.3;MME,missense_variant,p.Gly696Val,ENST00000615825,NM_007287.2,NM_007289.2;MME,missense_variant,p.Gly696Val,ENST00000462745,NM_007288.2;MME,missense_variant,p.Gly696Val,ENST00000492661,;MME,missense_variant,p.Gly696Val,ENST00000493237,;MME,missense_variant,p.Gly696Val,ENST00000360490,;MME-AS1,intron_variant,,ENST00000484721,;MME,non_coding_transcript_exon_variant,,ENST00000493888,;MME,downstream_gene_variant,,ENST00000495577,;	T	ENST00000460393	Transcript	missense_variant	2207/5622	2087/2253	696/750	G/V	gGa/gTa		1		1	MME	HGNC	HGNC:7154	protein_coding	YES	CCDS3172.1	ENSP00000418525	P08473		UPI0000033C41	NM_000902.3	deleterious(0)		22/23		hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF114,Gene3D:3.40.390.10,Pfam_domain:PF01431,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	155172546	155172546	G	T	1	0	0	0	0	1	0	0	0	9608	1174	41	2		2	MME	3	155172546	Missense_Mutation	SNP	G	C3N-01415_TP	2336282	155172546	43123013	130	25416											
TNIK	0	.	GRCh38	chr3	171085168	171085168	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcagtgggagacgtcTggtatactctggggtccaca	8	11	12	10	1	4	1	2	0	2	1	5	2	5	1	1	4	1	1	1	4	2	3	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.2948A>G	p.Gln983Arg	p.Q983R	ENST00000436636	25/33	185	171	14	207	207	0	strelka-varscan	TNIK,missense_variant,p.Gln983Arg,ENST00000436636,NM_015028.2;TNIK,missense_variant,p.Gln899Arg,ENST00000341852,NM_001161565.1;TNIK,missense_variant,p.Gln975Arg,ENST00000284483,NM_001161560.1;TNIK,missense_variant,p.Gln954Arg,ENST00000357327,NM_001161561.1;TNIK,missense_variant,p.Gln946Arg,ENST00000470834,NM_001161562.1;TNIK,missense_variant,p.Gln928Arg,ENST00000488470,NM_001161563.1;TNIK,missense_variant,p.Gln920Arg,ENST00000460047,NM_001161564.1;TNIK,missense_variant,p.Gln891Arg,ENST00000475336,NM_001161566.1;TNIK,non_coding_transcript_exon_variant,,ENST00000496492,;TNIK,upstream_gene_variant,,ENST00000484051,;	C	ENST00000436636	Transcript	missense_variant	3293/6970	2948/4083	983/1360	Q/R	cAg/cGg		1		-1	TNIK	HGNC	HGNC:30765	protein_coding	YES	CCDS46956.1	ENSP00000399511	Q9UKE5		UPI000003ABDF	NM_015028.2	deleterious(0.02)		25/33																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	171085168	171085168	T	C	1	0	0	0	0	1	0	0	0	16786	1580	55	5		5	TNIK	3	171085168	Missense_Mutation	SNP	T	C3N-01415_TP	15912622	171085168	27210391	131	25417											
FBXO45	0	.	GRCh38	chr3	196584314	196584314	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccttggaaaacctttggacgGatgacagtggctttcttgtg	8	13	12	8	1	1	1	0	1	1	0	1	4	1	4	2	4	1	1	2	4	2	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.857G>C	p.Gly286Ala	p.G286A	ENST00000311630	3/3	136	112	24	138	138	0	strelka-varscan	FBXO45,missense_variant,p.Gly286Ala,ENST00000311630,NM_001105573.1;FBXO45,missense_variant,p.Gly107Ala,ENST00000440469,;	C	ENST00000311630	Transcript	missense_variant	1154/5899	857/861	286/286	G/A	gGa/gCa		1		1	FBXO45	HGNC	HGNC:29148	protein_coding	YES	CCDS46985.1	ENSP00000310332	P0C2W1		UPI00001602EC	NM_001105573.1	deleterious(0)		3/3		hmmpanther:PTHR12245:SF7,hmmpanther:PTHR12245																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	78	196584314	196584314	G	C	1	0	0	0	0	1	0	0	0	5617	1174	41	4		4	FBXO45	3	196584314	Missense_Mutation	SNP	G	C3N-01415_TP	25499146	196584314	1711245	132	25418											
PDE6B	0	.	GRCh38	chr4	634817	634817	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacggcccattcttcaccagCgaagacgaagatgtgagtgt	12	8	11	10	3	2	3	1	1	1	2	2	5	2	3	2	1	2	0	2	1	3	2	rs762366124		C3N-01415_TP	C3N-01415_NB	C	C																c.609C>G	p.Ser203Arg	p.S203R	ENST00000496514	2/22	328	298	30	257	257	0	strelka-varscan-mutect	PDE6B,missense_variant,p.Ser203Arg,ENST00000255622,NM_001145291.1;PDE6B,missense_variant,p.Ser203Arg,ENST00000496514,NM_000283.3;	G	ENST00000496514	Transcript	missense_variant	630/3232	609/2565	203/854	S/R	agC/agG	rs762366124	1		1	PDE6B	HGNC	HGNC:8786	protein_coding	YES	CCDS33932.1	ENSP00000420295	P35913		UPI0000DBEE72	NM_000283.3	tolerated(0.13)		2/22		Gene3D:3.30.450.40,Pfam_domain:PF01590,SMART_domains:SM00065,Superfamily_domains:SSF55781																	MODERATE	1	SNV	1			1										PASS		rs762366124	.												G	3	3	78	634817	634817	C	G	1	0	0	0	0	1	0	0	0	11734	767	27	4		4	PDE6B	4	634817	Missense_Mutation	SNP	C	C3N-01415_TP		634817	189579738	133	25419											
MXD4	0	.	GRCh38	chr4	2252409	2252409	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagagcaaggcccactcaccTtgatgtgcaccttggcccgc	8	7	11	15	1	1	2	1	1	0	1	1	3	1	2	4	2	2	2	4	2	1	2	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.308A>T	p.Lys103Met	p.K103M	ENST00000337190	4/6	357	326	31	297	297	0	strelka-varscan-mutect	MXD4,missense_variant,p.Lys103Met,ENST00000337190,NM_006454.2;MXD4,upstream_gene_variant,,ENST00000537353,;MXD4,downstream_gene_variant,,ENST00000515378,;MXD4,splice_region_variant,,ENST00000513372,;MXD4,splice_region_variant,,ENST00000513380,;MXD4,downstream_gene_variant,,ENST00000510822,;	A	ENST00000337190	Transcript	missense_variant,splice_region_variant	622/4056	308/630	103/209	K/M	aAg/aTg		1		-1	MXD4	HGNC	HGNC:13906	protein_coding	YES	CCDS3361.1	ENSP00000337889	Q14582		UPI000012EB1A	NM_006454.2	deleterious(0)		4/6		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50888,hmmpanther:PTHR11969:SF4,hmmpanther:PTHR11969,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353,Superfamily_domains:SSF47459																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	2252409	2252409	T	A	1	0	0	0	0	1	0	0	0	10000	1623	56	4		4	MXD4	4	2252409	Missense_Mutation	SNP	T	C3N-01415_TP	1617592	2252409	187962146	134	25420											
JAKMIP1	0	.	GRCh38	chr4	6040651	6040651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtcctaccaggtaagcctgGtcaagggcttgcttccggta	7	10	13	11	1	1	0	1	0	0	0	3	0	3	0	4	5	3	4	4	5	4	5	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2163C>A	p.Asp721Glu	p.D721E	ENST00000409021	18/21	561	510	51	482	482	0	strelka-varscan-mutect	JAKMIP1,missense_variant,p.Asp721Glu,ENST00000409021,NM_001099433.1;JAKMIP1,missense_variant,p.Asp536Glu,ENST00000409371,;JAKMIP1,missense_variant,p.Asp289Glu,ENST00000637373,;	T	ENST00000409021	Transcript	missense_variant	2613/2975	2163/2496	721/831	D/E	gaC/gaA		1		-1	JAKMIP1	HGNC	HGNC:26460	protein_coding	YES	CCDS47005.1	ENSP00000386711	Q96N16		UPI00015734C1	NM_001099433.1	deleterious(0)		18/21		hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	6040651	6040651	G	T	1	0	0	0	0	1	0	0	0	7853	1252	44	2		2	JAKMIP1	4	6040651	Missense_Mutation	SNP	G	C3N-01415_TP	3788242	6040651	184173904	135	25421											
DRD5	0	.	GRCh38	chr4	9782414	9782414	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctccactgcctccatcCtgaacctgtgcgtcatcagc	6	11	8	16	1	2	1	2	1	0	0	5	1	5	1	5	0	5	1	5	0	1	0	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.385C>G	p.Leu129Val	p.L129V	ENST00000304374	1/1	240	165	75	240	240	0	strelka-varscan	DRD5,missense_variant,p.Leu129Val,ENST00000304374,NM_000798.4;SLC2A9,intron_variant,,ENST00000503803,;SLC2A9,intron_variant,,ENST00000508585,;	G	ENST00000304374	Transcript	missense_variant	735/2330	385/1434	129/477	L/V	Ctg/Gtg		1		1	DRD5	HGNC	HGNC:3026	protein_coding	YES	CCDS3405.1	ENSP00000306129	P21918		UPI000004E905	NM_000798.4	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF295,hmmpanther:PTHR24249,PROSITE_patterns:PS00237,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	78	9782414	9782414	C	G	1	0	0	0	0	1	0	0	0	4579	680	24	4		4	DRD5	4	9782414	Missense_Mutation	SNP	C	C3N-01415_TP	3741763	9782414	180432141	136	25422											
CPEB2	0	.	GRCh38	chr4	15002686	15002686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgataaatgagggatttcGggtttggggtgctgcagacc	8	11	15	7	1	0	3	0	2	0	1	1	4	0	4	2	4	2	3	2	4	2	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.13G>T	p.Gly5Trp	p.G5W	ENST00000538197	1/12	100	72	28	99	99	0	strelka-varscan	CPEB2,missense_variant,p.Gly5Trp,ENST00000538197,NM_001177382.1;CPEB2,missense_variant,p.Gly5Trp,ENST00000442003,NM_001177383.1,NM_001177381.1;CPEB2,upstream_gene_variant,,ENST00000259997,;CPEB2,upstream_gene_variant,,ENST00000382395,;CPEB2,upstream_gene_variant,,ENST00000382401,NM_001177384.1;CPEB2,upstream_gene_variant,,ENST00000507071,NM_182485.2;CPEB2,upstream_gene_variant,,ENST00000345451,NM_182646.2;CPEB2-AS1,upstream_gene_variant,,ENST00000500394,;RP11-665G4.1,downstream_gene_variant,,ENST00000502344,;RP11-665G4.1,downstream_gene_variant,,ENST00000513384,;CPEB2,upstream_gene_variant,,ENST00000503926,;	T	ENST00000538197	Transcript	missense_variant	13/6878	13/3105	5/1034	G/W	Ggg/Tgg		1		1	CPEB2	HGNC	HGNC:21745	protein_coding	YES	CCDS56325.1	ENSP00000443985	Q7Z5Q1		UPI0001D0434B	NM_001177382.1	deleterious_low_confidence(0)		1/12																			MODERATE		SNV	5			1										PASS		.	.												T	3	4	78	15002686	15002686	G	T	1	0	0	0	0	1	0	0	0	3595	1116	39	1		1	CPEB2	4	15002686	Missense_Mutation	SNP	G	C3N-01415_TP	5220272	15002686	175211869	137	25423											
QDPR	0	.	GRCh38	chr4	17492256	17492256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacagcgatggcggctgccCcgggcggcatgccgctgttc	4	6	16	15	5	0	0	0	0	0	0	1	1	0	0	3	4	3	5	3	4	0	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.521G>T	p.Gly174Val	p.G174V	ENST00000281243	5/7	153	134	19	184	183	1	strelka-varscan	QDPR,missense_variant,p.Gly174Val,ENST00000281243,NM_000320.2;QDPR,missense_variant,p.Gly143Val,ENST00000428702,NM_001306140.1;QDPR,intron_variant,,ENST00000513615,;QDPR,intron_variant,,ENST00000505710,;QDPR,intron_variant,,ENST00000508623,;QDPR,non_coding_transcript_exon_variant,,ENST00000501943,;QDPR,non_coding_transcript_exon_variant,,ENST00000511609,;QDPR,intron_variant,,ENST00000507439,;QDPR,intron_variant,,ENST00000514300,;	A	ENST00000281243	Transcript	missense_variant	701/1648	521/735	174/244	G/V	gGg/gTg		1		-1	QDPR	HGNC	HGNC:9752	protein_coding	YES	CCDS3421.1	ENSP00000281243	P09417	A0A140VKA9	UPI0000111B0A	NM_000320.2	deleterious(0.01)		5/7		hmmpanther:PTHR15104:SF0,hmmpanther:PTHR15104,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	17492256	17492256	C	A	1	0	0	0	0	1	0	0	0	13027	623	22	2		2	QDPR	4	17492256	Missense_Mutation	SNP	C	C3N-01415_TP	2489570	17492256	172722299	138	25424											
ADGRA3	0	.	GRCh38	chr4	22388290	22388290	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttcaaaggtaaagaattGgcatggcactgagctgcagc	13	8	13	7	0	1	2	1	1	0	1	1	3	1	2	0	3	3	6	0	3	4	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.3381C>T	p.=	p.A1127A	ENST00000334304	19/19	145	107	38	164	163	1	strelka-varscan	ADGRA3,synonymous_variant,p.=,ENST00000334304,NM_145290.3;ADGRA3,non_coding_transcript_exon_variant,,ENST00000282943,;ADGRA3,downstream_gene_variant,,ENST00000504617,;ADGRA3,non_coding_transcript_exon_variant,,ENST00000499527,;ADGRA3,intron_variant,,ENST00000511051,;	A	ENST00000334304	Transcript	synonymous_variant	3651/4566	3381/3966	1127/1321	A	gcC/gcT		1		-1	ADGRA3	HGNC	HGNC:13839	protein_coding	YES	CCDS33964.1	ENSP00000334952	Q8IWK6		UPI00001D7735	NM_145290.3			19/19		hmmpanther:PTHR12011:SF35,hmmpanther:PTHR12011																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	22388290	22388290	G	A	1	0	0	0	0	0	0	0	1	354	1335	47	3		3	ADGRA3	4	22388290	Silent	SNP	G	C3N-01415_TP	4896034	22388290	167826265	139	25425											
CORIN	0	.	GRCh38	chr4	47744481	47744481	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttggtttctaaactgggaGcatctgaggaaatccggcca	10	11	12	8	1	2	1	0	1	2	0	3	3	3	3	2	4	2	3	2	4	3	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.720C>A	p.Cys240Ter	p.C240*	ENST00000273857	5/22	264	238	26	292	292	0	strelka-varscan	CORIN,stop_gained,p.Cys240Ter,ENST00000273857,NM_006587.3;CORIN,stop_gained,p.Cys173Ter,ENST00000610355,NM_001278585.1;CORIN,stop_gained,p.Cys101Ter,ENST00000508498,;CORIN,stop_gained,p.Cys173Ter,ENST00000502252,;CORIN,stop_gained,p.Cys240Ter,ENST00000505909,;CORIN,stop_gained,p.Cys240Ter,ENST00000504584,NM_001278586.1;CORIN,non_coding_transcript_exon_variant,,ENST00000502726,;CORIN,non_coding_transcript_exon_variant,,ENST00000503821,;	T	ENST00000273857	Transcript	stop_gained	720/4852	720/3129	240/1042	C/*	tgC/tgA		1		-1	CORIN	HGNC	HGNC:19012	protein_coding	YES	CCDS3477.1	ENSP00000273857	Q9Y5Q5		UPI0000168657	NM_006587.3			5/22		Gene3D:1ijyA00,Pfam_domain:PF01392,PIRSF_domain:PIRSF036376,PROSITE_profiles:PS50038,hmmpanther:PTHR24270,SMART_domains:SM00063,Superfamily_domains:SSF63501																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	78	47744481	47744481	G	T	1	0	0	0	0	0	1	0	0	3546	963	34	2		2	CORIN	4	47744481	Nonsense_Mutation	SNP	G	C3N-01415_TP	25356191	47744481	142470074	140	25426											
FIP1L1	0	.	GRCh38	chr4	53391059	53391059	+	Frame_Shift_Del	DEL	A	A	-																															ggtttaatgaagatacctggAaagcttactgtgaaaaacaa																								novel		C3N-01415_TP	C3N-01415_NB	A	A																c.558delA	p.Ala187LeufsTer18	p.A187Lfs*18	ENST00000507166	8/24	153	136	17	215	214	1	sindel-varindel-pindel	RP11-231C18.3,frameshift_variant,p.Ala187LeufsTer18,ENST00000507166,;FIP1L1,frameshift_variant,p.Ala187LeufsTer18,ENST00000337488,NM_030917.3;FIP1L1,frameshift_variant,p.Ala172LeufsTer18,ENST00000358575,NM_001134937.1;FIP1L1,frameshift_variant,p.Ala172LeufsTer18,ENST00000306932,NM_001134938.1;FIP1L1,frameshift_variant,p.Ala172LeufsTer18,ENST00000507922,;FIP1L1,downstream_gene_variant,,ENST00000510668,;FIP1L1,downstream_gene_variant,,ENST00000511376,;FIP1L1,3_prime_UTR_variant,,ENST00000514543,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000505125,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000513975,;	-	ENST00000507166	Transcript	frameshift_variant	556/2550	556/2550	186/849	K/X	Aaa/aa		1		1	RP11-231C18.3	Clone_based_vega_gene		protein_coding	YES		ENSP00000423325		A0A0B4J203	UPI00001AA722				8/24		Pfam_domain:PF05182																	HIGH		deletion	2	2		1										PASS		.	.												-	7	5	78	53391059	53391059	A	-	1	0	1	0	1	0	0	0	0	5759	247	9	0		0	FIP1L1	4	53391059	Frame_Shift_Del	DEL	A	C3N-01415_TP	5646578	53391059	136823496	141	25427											
EPHA5	0	.	GRCh38	chr4	65365028	65365028	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacttacttttggtcaccAcaccttctaaatggatgatg	11	14	6	10	0	2	1	1	1	1	0	2	2	2	2	2	2	2	0	2	2	4	6	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.2228T>A	p.Val743Glu	p.V743E	ENST00000622150	12/18	142	125	17	225	225	0	strelka-varscan	EPHA5,missense_variant,p.Val743Glu,ENST00000622150,NM_001281765.1;EPHA5,missense_variant,p.Val721Glu,ENST00000613740,NM_001281766.1;EPHA5,missense_variant,p.Val742Glu,ENST00000273854,NM_004439.6;EPHA5,missense_variant,p.Val743Glu,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Val579Glu,ENST00000432638,;EPHA5,missense_variant,p.Val720Glu,ENST00000354839,NM_182472.3;	T	ENST00000622150	Transcript	missense_variant	2981/8421	2228/3117	743/1038	V/E	gTg/gAg		1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1	deleterious(0)		12/18		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	65365028	65365028	A	T	1	0	0	0	0	1	0	0	0	5017	159	6	4		4	EPHA5	4	65365028	Missense_Mutation	SNP	A	C3N-01415_TP	11973969	65365028	124849527	142	25428											
EPHA5	0	.	GRCh38	chr4	65601872	65601872	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattttttatagtatacacGcacagaaaccagagcaatgc	15	10	7	9	1	0	2	0	0	0	2	0	2	0	2	1	0	4	4	1	0	6	6	rs746706656		C3N-01415_TP	C3N-01415_NB	G	G																c.679C>G	p.Arg227Gly	p.R227G	ENST00000622150	3/18	259	229	30	370	370	0	strelka-varscan	EPHA5,missense_variant,p.Arg227Gly,ENST00000622150,NM_001281765.1;EPHA5,missense_variant,p.Arg227Gly,ENST00000613740,NM_001281766.1;EPHA5,missense_variant,p.Arg227Gly,ENST00000273854,NM_004439.6;EPHA5,missense_variant,p.Arg227Gly,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Arg227Gly,ENST00000432638,;EPHA5,missense_variant,p.Arg227Gly,ENST00000354839,NM_182472.3;	C	ENST00000622150	Transcript	missense_variant	1432/8421	679/3117	227/1038	R/G	Cgt/Ggt	rs746706656	1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1	deleterious(0)		3/18		Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,PROSITE_patterns:PS00790,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17,SMART_domains:SM00615,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	65601872	65601872	G	C	1	0	0	0	0	1	0	0	0	5017	1087	38	4		4	EPHA5	4	65601872	Missense_Mutation	SNP	G	C3N-01415_TP	236844	65601872	124612683	143	25429											
AMTN	0	.	GRCh38	chr4	70528758	70528758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacacaacttggagcccaGgtaaaaattatgcttaatat	15	11	7	8	0	1	0	1	0	0	0	1	1	1	1	1	2	3	2	1	2	7	5	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.330G>T	p.Gln110His	p.Q110H	ENST00000339336	6/9	102	84	18	138	138	0	strelka-varscan	AMTN,missense_variant,p.Gln110His,ENST00000339336,NM_212557.3;AMTN,missense_variant,p.Gln109His,ENST00000504451,NM_001286731.1;	T	ENST00000339336	Transcript	missense_variant,splice_region_variant	460/1037	330/630	110/209	Q/H	caG/caT		1		1	AMTN	HGNC	HGNC:33188	protein_coding	YES	CCDS3542.1	ENSP00000341013	Q6UX39	F1T0L8	UPI00000389F3	NM_212557.3	tolerated(0.06)		6/9		PD400414,Pfam_domain:PF15757,hmmpanther:PTHR36858,hmmpanther:PTHR36858:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	70528758	70528758	G	T	1	0	0	0	0	1	0	0	0	688	1014	35	2		2	AMTN	4	70528758	Missense_Mutation	SNP	G	C3N-01415_TP	4926886	70528758	119685797	144	25430											
PTPN13	0	.	GRCh38	chr4	86762928	86762928	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaagattccaggactgAgagtgccagcttgtctcaaa	11	11	9	10	0	2	2	2	1	2	2	5	4	3	3	2	1	2	1	2	1	2	3	rs539162204		C3N-01415_TP	C3N-01415_NB	A	A																c.3755A>C	p.Glu1252Ala	p.E1252A	ENST00000436978	24/48	236	193	43	296	295	1	strelka-varscan	PTPN13,missense_variant,p.Glu1252Ala,ENST00000436978,NM_080685.2;PTPN13,missense_variant,p.Glu1233Ala,ENST00000427191,NM_006264.2;PTPN13,missense_variant,p.Glu1252Ala,ENST00000411767,NM_080683.2;PTPN13,missense_variant,p.Glu1252Ala,ENST00000511467,;PTPN13,missense_variant,p.Glu1061Ala,ENST00000316707,NM_080684.2;PTPN13,non_coding_transcript_exon_variant,,ENST00000508063,;PTPN13,upstream_gene_variant,,ENST00000511105,;	C	ENST00000436978	Transcript	missense_variant	4235/8573	3755/7473	1252/2490	E/A	gAg/gCg	rs539162204	1		1	PTPN13	HGNC	HGNC:9646	protein_coding	YES	CCDS47093.1	ENSP00000394794	Q12923		UPI000016075D	NM_080685.2	deleterious(0.04)		24/48		PIRSF_domain:PIRSF000933,Pfam_domain:PF16599																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	78	86762928	86762928	A	C	1	0	0	0	0	1	0	0	0	12935	304	11	5		5	PTPN13	4	86762928	Missense_Mutation	SNP	A	C3N-01415_TP	16234170	86762928	103451627	145	25431											
PKD2	0	.	GRCh38	chr4	88074919	88074919	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgagccaaactgaagaGgagggaggtgctgggaaggc	12	3	20	6	1	0	2	0	1	0	1	0	7	0	6	1	6	4	1	1	6	3	0	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2630G>C	p.Arg877Thr	p.R877T	ENST00000237596	14/15	447	364	83	508	508	0	strelka-varscan	PKD2,missense_variant,p.Arg877Thr,ENST00000237596,NM_000297.3;PKD2,missense_variant,p.Arg295Thr,ENST00000508588,;PKD2,missense_variant,p.Arg295Thr,ENST00000502363,;PKD2,non_coding_transcript_exon_variant,,ENST00000511337,;PKD2,non_coding_transcript_exon_variant,,ENST00000512858,;	C	ENST00000237596	Transcript	missense_variant	2696/5056	2630/2907	877/968	R/T	aGg/aCg		1		1	PKD2	HGNC	HGNC:9009	protein_coding	YES	CCDS3627.1	ENSP00000237596	Q13563		UPI000013CA1D	NM_000297.3	deleterious(0)		14/15		hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF114																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	88074919	88074919	G	C	1	0	0	0	0	1	0	0	0	12062	1000	35	4		4	PKD2	4	88074919	Missense_Mutation	SNP	G	C3N-01415_TP	1311991	88074919	102139636	146	25432											
RAP1GDS1	0	.	GRCh38	chr4	98343159	98343159	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacggaaacaagtgaaaaaAtccaagcaagtggaatactt	20	7	8	6	1	0	1	0	1	0	0	1	3	1	3	1	2	4	1	1	2	10	3	rs765486837		C3N-01415_TP	C3N-01415_NB	A	A																c.136A>T	p.Ile46Phe	p.I46F	ENST00000339360	3/15	167	128	39	239	239	0	strelka-varscan	RAP1GDS1,missense_variant,p.Ile45Phe,ENST00000408927,NM_001100427.1;RAP1GDS1,missense_variant,p.Ile46Phe,ENST00000453712,NM_021159.4;RAP1GDS1,missense_variant,p.Ile46Phe,ENST00000339360,NM_001100426.1;RAP1GDS1,missense_variant,p.Ile46Phe,ENST00000380158,NM_001100428.1;RAP1GDS1,missense_variant,p.Ile45Phe,ENST00000408900,NM_001100429.1;RAP1GDS1,missense_variant,p.Ile46Phe,ENST00000264572,NM_001100430.1;RAP1GDS1,missense_variant,p.Ile45Phe,ENST00000514122,;RAP1GDS1,missense_variant,p.Ile46Phe,ENST00000511212,;RAP1GDS1,intron_variant,,ENST00000508213,;RAP1GDS1,intron_variant,,ENST00000509011,;RAP1GDS1,non_coding_transcript_exon_variant,,ENST00000512857,;RAP1GDS1,non_coding_transcript_exon_variant,,ENST00000515187,;RAP1GDS1,missense_variant,p.Ile45Phe,ENST00000510870,;RAP1GDS1,3_prime_UTR_variant,,ENST00000503667,;RAP1GDS1,3_prime_UTR_variant,,ENST00000508490,;RAP1GDS1,non_coding_transcript_exon_variant,,ENST00000511379,;RAP1GDS1,non_coding_transcript_exon_variant,,ENST00000505378,;RAP1GDS1,non_coding_transcript_exon_variant,,ENST00000507303,;	T	ENST00000339360	Transcript	missense_variant	184/2092	136/1827	46/608	I/F	Atc/Ttc	rs765486837	1		1	RAP1GDS1	HGNC	HGNC:9859	protein_coding	YES	CCDS47105.1	ENSP00000340454	P52306		UPI000004A01F	NM_001100426.1	deleterious(0.01)		3/15		Gene3D:1.25.10.10,hmmpanther:PTHR10957,hmmpanther:PTHR10957:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	98343159	98343159	A	T	1	0	0	0	0	1	0	0	0	13198	101	4	4		4	RAP1GDS1	4	98343159	Missense_Mutation	SNP	A	C3N-01415_TP	10268240	98343159	91871396	147	25433											
MTTP	0	.	GRCh38	chr4	99613067	99613067	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggatacagtgatttgatgtCcaaaatgctgtcagcatctg	11	12	10	8	1	2	2	1	2	1	0	3	3	3	3	1	1	3	2	1	1	3	2	rs149228079		C3N-01415_TP	C3N-01415_NB	C	C																c.2225C>A	p.Ser742Tyr	p.S742Y	ENST00000511045	15/18	540	441	99	660	659	1	strelka-varscan	MTTP,missense_variant,p.Ser715Tyr,ENST00000457717,NM_000253.3;MTTP,missense_variant,p.Ser715Tyr,ENST00000265517,;MTTP,missense_variant,p.Ser742Tyr,ENST00000511045,NM_001300785.1;RP11-766F14.1,intron_variant,,ENST00000508578,;	A	ENST00000511045	Transcript	missense_variant	2238/3154	2225/2766	742/921	S/Y	tCc/tAc	rs149228079	1		1	MTTP	HGNC	HGNC:7467	protein_coding	YES	CCDS75169.1	ENSP00000427679		E9PBP6	UPI0001D3B6EF	NM_001300785.1	deleterious(0)		15/18		hmmpanther:PTHR13024,hmmpanther:PTHR13024:SF1																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	78	99613067	99613067	C	A	1	0	0	0	0	1	0	0	0	9961	855	30	2		2	MTTP	4	99613067	Missense_Mutation	SNP	C	C3N-01415_TP	1269908	99613067	90601488	148	25434											
DKK2	0	.	GRCh38	chr4	106924189	106924189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtctgatgatcgtaggcagGggtctccttcatgccctgca	7	11	12	11	1	3	2	1	2	2	0	5	2	3	2	2	3	2	3	2	3	1	2			C3N-01415_TP	C3N-01415_NB	G	G																c.545C>A	p.Pro182His	p.P182H	ENST00000285311	4/4	169	144	25	258	255	3	strelka-varscan	DKK2,missense_variant,p.Pro182His,ENST00000285311,NM_014421.2;DKK2,missense_variant,p.Pro82His,ENST00000513208,;DKK2,missense_variant,p.Pro136His,ENST00000510463,;DKK2,non_coding_transcript_exon_variant,,ENST00000510534,;	T	ENST00000285311	Transcript	missense_variant	1251/3638	545/780	182/259	P/H	cCc/cAc	COSM4121196	1		-1	DKK2	HGNC	HGNC:2892	protein_coding	YES	CCDS3675.1	ENSP00000285311	Q9UBU2		UPI0000048EF2	NM_014421.2	deleterious(0.02)		4/4		hmmpanther:PTHR12113:SF12,hmmpanther:PTHR12113,Gene3D:2.10.80.10											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	78	106924189	106924189	G	T	1	0	0	0	0	1	0	0	0	4351	1232	43	2		2	DKK2	4	106924189	Missense_Mutation	SNP	G	C3N-01415_TP	7311122	106924189	83290366	149	25435											
NDNF	0	.	GRCh38	chr4	121037120	121037120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttctgaatatcaaccttgGgcctggagtagacatgacgc	10	12	10	9	1	2	3	1	2	1	1	2	4	2	4	2	2	1	1	2	2	4	5	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.851C>T	p.Pro284Leu	p.P284L	ENST00000379692	4/4	234	198	36	306	304	2	strelka-varscan	NDNF,missense_variant,p.Pro284Leu,ENST00000379692,NM_024574.3;NDNF,downstream_gene_variant,,ENST00000515757,;NDNF,downstream_gene_variant,,ENST00000511408,;NDNF,non_coding_transcript_exon_variant,,ENST00000506900,;	A	ENST00000379692	Transcript	missense_variant	1378/2885	851/1707	284/568	P/L	cCc/cTc		1		-1	NDNF	HGNC	HGNC:26256	protein_coding	YES	CCDS3717.2	ENSP00000369014	Q8TB73		UPI00001D6985	NM_024574.3	tolerated(0.07)		4/4		hmmpanther:PTHR14619,hmmpanther:PTHR14619:SF1,Gene3D:2.60.40.10,SMART_domains:SM00060																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	121037120	121037120	G	A	1	0	0	0	0	1	0	0	0	10269	1232	43	3		3	NDNF	4	121037120	Missense_Mutation	SNP	G	C3N-01415_TP	14112931	121037120	69177435	150	25436											
KIAA1109	0	.	GRCh38	chr4	122353814	122353814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtatttttattttgttgtagGctccagtgatcattctacat	8	20	7	6	0	2	1	1	1	1	0	3	1	3	1	1	1	1	4	1	1	4	10	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.14102G>T	p.Gly4701Val	p.G4701V	ENST00000264501	82/86	196	169	27	252	252	0	strelka-varscan	KIAA1109,missense_variant,p.Gly4701Val,ENST00000264501,;KIAA1109,missense_variant,p.Gly4701Val,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Gly1370Val,ENST00000438707,;KIAA1109,missense_variant,p.Gly1077Val,ENST00000306802,;KIAA1109,downstream_gene_variant,,ENST00000491933,;	T	ENST00000264501	Transcript	missense_variant,splice_region_variant	14475/15896	14102/15018	4701/5005	G/V	gGc/gTc		1		1	KIAA1109	HGNC	HGNC:26953	protein_coding	YES	CCDS43267.1	ENSP00000264501	Q2LD37		UPI0000DD87B4		deleterious(0.01)		82/86		hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640,Pfam_domain:PF10479,SMART_domains:SM01220																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	78	122353814	122353814	G	T	1	0	0	0	0	1	0	0	0	8101	1217	42	2		2	KIAA1109	4	122353814	Missense_Mutation	SNP	G	C3N-01415_TP	1316694	122353814	67860741	151	25437											
FAT4	0	.	GRCh38	chr4	125321020	125321020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcacaaaacgcccttgctGcagacccatcagctgtgatt	11	10	7	13	1	2	2	2	1	0	1	2	2	2	2	2	0	4	3	2	0	3	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.4609G>T	p.Ala1537Ser	p.A1537S	ENST00000394329	1/17	204	166	38	275	275	0	strelka-varscan-mutect	FAT4,missense_variant,p.Ala1537Ser,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;	T	ENST00000394329	Transcript	missense_variant	4622/16123	4609/14946	1537/4981	A/S	Gca/Tca		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	tolerated(0.45)		1/17		Gene3D:2.60.40.60,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	78	125321020	125321020	G	T	1	0	0	0	0	1	0	0	0	5552	1319	46	2		2	FAT4	4	125321020	Missense_Mutation	SNP	G	C3N-01415_TP	2967206	125321020	64893535	152	25438											
FAT4	0	.	GRCh38	chr4	125451055	125451055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtcgaaagaagggtttcCagatcaataagaagactgga	17	8	11	5	1	1	4	1	0	0	4	3	6	2	5	1	2	0	1	1	2	6	3			C3N-01415_TP	C3N-01415_NB	C	C																c.10039C>A	p.Gln3347Lys	p.Q3347K	ENST00000394329	9/17	269	215	54	381	381	0	strelka-varscan-mutect	FAT4,missense_variant,p.Gln3347Lys,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,missense_variant,p.Gln1645Lys,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;	A	ENST00000394329	Transcript	missense_variant	10052/16123	10039/14946	3347/4981	Q/K	Cag/Aag	COSM4122035,COSM4122036	1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	tolerated(0.46)		9/17		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	78	125451055	125451055	C	A	1	0	0	0	0	1	0	0	0	5552	595	21	2		2	FAT4	4	125451055	Missense_Mutation	SNP	C	C3N-01415_TP	130035	125451055	64763500	153	25439											
TBC1D9	0	.	GRCh38	chr4	140686454	140686454	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcagtgatttctttccTggaaccacctgtacaaatga	10	14	8	9	0	2	2	1	2	1	0	3	3	3	3	3	1	2	2	3	1	3	4	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.250A>G	p.Arg84Gly	p.R84G	ENST00000442267	3/21	211	179	32	223	223	0	strelka-varscan-mutect	TBC1D9,missense_variant,p.Arg84Gly,ENST00000442267,NM_015130.2;	C	ENST00000442267	Transcript	missense_variant	325/5306	250/3801	84/1266	R/G	Agg/Ggg		1		-1	TBC1D9	HGNC	HGNC:21710	protein_coding	YES	CCDS47136.1	ENSP00000411197	Q6ZT07		UPI00001C1E18	NM_015130.2	deleterious(0.03)		3/21		hmmpanther:PTHR22957:SF190,hmmpanther:PTHR22957																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	140686454	140686454	T	C	1	0	0	0	0	1	0	0	0	16032	1579	55	5		5	TBC1D9	4	140686454	Missense_Mutation	SNP	T	C3N-01415_TP	15235399	140686454	49528101	154	25440											
FSTL5	0	.	GRCh38	chr4	161455080	161455080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattgctttcccactggttGggtgtggatcgtgtggtgag	6	14	15	6	1	0	1	0	1	0	0	2	2	1	2	1	4	1	2	1	4	1	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1765C>A	p.Gln589Lys	p.Q589K	ENST00000306100	15/16	138	124	14	192	192	0	strelka-varscan	FSTL5,missense_variant,p.Gln589Lys,ENST00000306100,NM_020116.4;FSTL5,missense_variant,p.Gln588Lys,ENST00000379164,NM_001128427.2;FSTL5,missense_variant,p.Gln579Lys,ENST00000427802,NM_001128428.2;	T	ENST00000306100	Transcript	missense_variant	2202/4831	1765/2544	589/847	Q/K	Caa/Aaa		1		-1	FSTL5	HGNC	HGNC:21386	protein_coding	YES	CCDS3802.1	ENSP00000305334	Q8N475		UPI000020B66B	NM_020116.4	deleterious(0.02)		15/16		hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF44,Gene3D:2.130.10.10,Superfamily_domains:0047643																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	161455080	161455080	G	T	1	0	0	0	0	1	0	0	0	5954	1357	47	2		2	FSTL5	4	161455080	Missense_Mutation	SNP	G	C3N-01415_TP	20768626	161455080	28759475	155	25441											
NPY5R	0	.	GRCh38	chr4	163350780	163350780	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggacactaggttttgcCatctgttctccccttccagt	5	15	8	13	0	3	0	0	0	3	0	5	1	4	1	4	2	1	2	4	2	1	5			C3N-01415_TP	C3N-01415_NB	C	C																c.507C>G	p.=	p.A169A	ENST00000515560	4/4	204	175	29	270	270	0	strelka-varscan	NPY5R,synonymous_variant,p.=,ENST00000515560,NM_001317091.1;NPY5R,synonymous_variant,p.=,ENST00000338566,NM_006174.2;NPY5R,synonymous_variant,p.=,ENST00000506953,;	G	ENST00000515560	Transcript	synonymous_variant	2029/3183	507/1338	169/445	A	gcC/gcG	COSM3601580	1		1	NPY5R	HGNC	HGNC:7958	protein_coding	YES	CCDS3804.1	ENSP00000423917	Q15761		UPI000000D9D7	NM_001317091.1			4/4		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF217,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01016,Prints_domain:PR00237											1						LOW	1	SNV	2		1	1										PASS		.	.												G	2	3	78	163350780	163350780	C	G	1	0	0	0	0	0	0	0	1	10666	581	21	4		4	NPY5R	4	163350780	Silent	SNP	C	C3N-01415_TP	1895700	163350780	26863775	156	25442											
SPOCK3	0	.	GRCh38	chr4	166889132	166889132	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatttttgtcacttacctCtcttaacatttctgcttgta	8	21	3	9	0	3	0	1	0	2	0	4	0	3	0	1	0	3	2	1	0	5	9	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.596G>T	p.Arg199Ile	p.R199I	ENST00000357154	7/12	243	204	39	326	324	2	strelka-varscan	SPOCK3,missense_variant,p.Arg148Ile,ENST00000421836,NM_001204352.1;SPOCK3,missense_variant,p.Arg199Ile,ENST00000357154,NM_016950.2;SPOCK3,missense_variant,p.Arg199Ile,ENST00000506886,;SPOCK3,missense_variant,p.Arg196Ile,ENST00000357545,NM_001040159.1;SPOCK3,missense_variant,p.Arg199Ile,ENST00000511531,;SPOCK3,missense_variant,p.Arg196Ile,ENST00000504953,;SPOCK3,missense_variant,p.Arg79Ile,ENST00000541354,NM_001204355.1,NM_001204353.1;SPOCK3,missense_variant,p.Arg199Ile,ENST00000502330,;SPOCK3,missense_variant,p.Arg107Ile,ENST00000535728,NM_001204354.1;SPOCK3,missense_variant,p.Arg196Ile,ENST00000510741,NM_001204356.1;SPOCK3,missense_variant,p.Arg196Ile,ENST00000511269,;SPOCK3,missense_variant,p.Arg101Ile,ENST00000512681,NM_001251967.1;SPOCK3,missense_variant,p.Arg196Ile,ENST00000512648,NM_001204358.1;SPOCK3,intron_variant,,ENST00000510403,;SPOCK3,downstream_gene_variant,,ENST00000509854,;SPOCK3,splice_region_variant,,ENST00000502821,;SPOCK3,splice_region_variant,,ENST00000511905,;SPOCK3,splice_region_variant,,ENST00000505187,;SPOCK3,splice_region_variant,,ENST00000507370,;SPOCK3,splice_region_variant,,ENST00000502741,;SPOCK3,splice_region_variant,,ENST00000507086,;SPOCK3,splice_region_variant,,ENST00000511226,;SPOCK3,splice_region_variant,,ENST00000515143,;	A	ENST00000357154	Transcript	missense_variant,splice_region_variant	734/2986	596/1311	199/436	R/I	aGa/aTa		1		-1	SPOCK3	HGNC	HGNC:13565	protein_coding	YES	CCDS54817.1	ENSP00000349677	Q9BQ16		UPI000004BA60	NM_016950.2	deleterious(0.02)		7/12		hmmpanther:PTHR22118,hmmpanther:PTHR22118:SF10,Pfam_domain:PF10591																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	78	166889132	166889132	C	A	1	0	0	0	0	1	0	0	0	15434	927	32	2		2	SPOCK3	4	166889132	Missense_Mutation	SNP	C	C3N-01415_TP	3538352	166889132	23325423	157	25443											
NEK1	0	.	GRCh38	chr4	169400288	169400288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcataaagatgctgatgttCatttcccaaaatattttgaa	14	14	7	6	0	1	3	1	2	0	1	2	3	2	3	1	1	1	3	1	1	6	6	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.3784G>A	p.Glu1262Lys	p.E1262K	ENST00000507142	35/36	158	144	14	195	195	0	strelka-varscan	NEK1,missense_variant,p.Glu1234Lys,ENST00000439128,NM_012224.2;NEK1,missense_variant,p.Glu1262Lys,ENST00000507142,NM_001199397.1;NEK1,missense_variant,p.Glu1218Lys,ENST00000511633,NM_001199398.1;NEK1,missense_variant,p.Glu1190Lys,ENST00000510533,NM_001199400.1;NEK1,missense_variant,p.Glu1165Lys,ENST00000512193,NM_001199399.1;	T	ENST00000507142	Transcript	missense_variant	4364/5556	3784/3861	1262/1286	E/K	Gaa/Aaa		1		-1	NEK1	HGNC	HGNC:7744	protein_coding	YES	CCDS56351.1	ENSP00000424757	Q96PY6		UPI00001D76CA	NM_001199397.1	tolerated(0.06)		35/36																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	169400288	169400288	C	T	1	0	0	0	0	1	0	0	0	10349	835	29	3		3	NEK1	4	169400288	Missense_Mutation	SNP	C	C3N-01415_TP	2511156	169400288	20814267	158	25444											
ADAM29	0	.	GRCh38	chr4	174975939	174975939	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgcttatgaaatcaagccCctagcattttctaccacgtt	10	15	5	11	1	2	1	1	1	1	0	2	1	2	1	3	0	4	3	3	0	5	7	rs200900534		C3N-01415_TP	C3N-01415_NB	C	C																c.414C>A	p.=	p.P138P	ENST00000615367	6/6	208	177	31	314	314	0	strelka-varscan	ADAM29,synonymous_variant,p.=,ENST00000615367,NM_001278125.1;ADAM29,synonymous_variant,p.=,ENST00000359240,NM_014269.4,NM_001278126.1;ADAM29,synonymous_variant,p.=,ENST00000445694,NM_001130703.1;ADAM29,synonymous_variant,p.=,ENST00000404450,NM_001130704.1;ADAM29,synonymous_variant,p.=,ENST00000514159,NM_001130705.1;ADAM29,synonymous_variant,p.=,ENST00000618444,NM_001278127.1;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000505141,;ADAM29,downstream_gene_variant,,ENST00000502940,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	A	ENST00000615367	Transcript	synonymous_variant	1145/3386	414/2463	138/820	P	ccC/ccA	rs200900534	1		1	ADAM29	HGNC	HGNC:207	protein_coding	YES	CCDS3823.1	ENSP00000484862	Q9UKF5	A0A140VJD8	UPI000013E9DE	NM_001278125.1			6/6		hmmpanther:PTHR11905:SF34,hmmpanther:PTHR11905,Pfam_domain:PF01562																	LOW		SNV	5			1										PASS		.	.												A	2	1	78	174975939	174975939	C	A	1	0	0	0	0	0	0	0	1	291	610	22	2		2	ADAM29	4	174975939	Silent	SNP	C	C3N-01415_TP	5575651	174975939	15238616	159	25445											
ASB5	0	.	GRCh38	chr4	176221555	176221555	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggactgccttgggagcAtgcgttgaataacggagtca	9	10	14	8	2	1	1	1	1	0	0	1	4	1	4	1	3	4	3	1	3	2	4	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.430T>A	p.Cys144Ser	p.C144S	ENST00000296525	4/7	132	104	28	141	141	0	strelka-varscan	ASB5,missense_variant,p.Cys144Ser,ENST00000296525,NM_080874.3;ASB5,missense_variant,p.Cys91Ser,ENST00000512254,;ASB5,non_coding_transcript_exon_variant,,ENST00000511879,;ASB5,downstream_gene_variant,,ENST00000510578,;	T	ENST00000296525	Transcript	missense_variant	544/3031	430/990	144/329	C/S	Tgc/Agc		1		-1	ASB5	HGNC	HGNC:17180	protein_coding	YES	CCDS3827.1	ENSP00000296525	Q8WWX0	Q5HYF3	UPI00000015CF	NM_080874.3	deleterious(0.04)		4/7		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24136,hmmpanther:PTHR24136:SF18,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	176221555	176221555	A	T	1	0	0	0	0	1	0	0	0	1168	217	8	4		4	ASB5	4	176221555	Missense_Mutation	SNP	A	C3N-01415_TP	1245616	176221555	13993000	160	25446											
TRAPPC11	0	.	GRCh38	chr4	183697677	183697677	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttatcttcatttgtgacAgtttgagcacctggaaaggg	9	15	10	7	0	2	2	1	2	1	0	2	3	2	3	1	2	1	2	1	2	2	5	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.2695-2A>T		p.X899_splice	ENST00000334690		124	99	25	150	150	0	strelka-varscan	TRAPPC11,splice_acceptor_variant,,ENST00000334690,NM_021942.5;TRAPPC11,splice_acceptor_variant,,ENST00000357207,NM_199053.2;TRAPPC11,splice_acceptor_variant,,ENST00000512476,;TRAPPC11,splice_acceptor_variant,,ENST00000505676,;TRAPPC11,upstream_gene_variant,,ENST00000511955,;TRAPPC11,upstream_gene_variant,,ENST00000506426,;	T	ENST00000334690	Transcript	splice_acceptor_variant	-/4552	2695/3402	899/1133				1		1	TRAPPC11	HGNC	HGNC:25751	protein_coding	YES	CCDS34112.1	ENSP00000335371	Q7Z392		UPI000020B774	NM_021942.5				24/29																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	78	183697677	183697677	A	T	1	0	0	0	0	0	0	1	0	16941	202	7	4		4	TRAPPC11	4	183697677	Splice_Site	SNP	A	C3N-01415_TP	7476122	183697677	6516878	161	25447											
MTNR1A	0	.	GRCh38	chr4	186534158	186534158	+	Missense_Mutation	SNP	T	T	G																															tgatcatggggacgaggaagTggaaaaccaccacggcgatg																								novel		C3N-01415_TP	C3N-01415_NB	T	T																c.584A>C	p.His195Pro	p.H195P	ENST00000307161	2/2	120	102	18	168	167	1	strelka-varscan	MTNR1A,missense_variant,p.His195Pro,ENST00000307161,NM_005958.3;RP11-215A19.2,intron_variant,,ENST00000509111,;	G	ENST00000307161	Transcript	missense_variant	786/1289	584/1053	195/350	H/P	cAc/cCc		1		-1	MTNR1A	HGNC	HGNC:7463	protein_coding	YES	CCDS3848.1	ENSP00000302811	P48039		UPI0000050407	NM_005958.3	deleterious(0)		2/2		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF52,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00857																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	186534158	186534158	T	G	1	0	0	0	0	1	0	0	0	9938	1696	59	5		5	MTNR1A	4	186534158	Missense_Mutation	SNP	T	C3N-01415_TP	2836481	186534158	3680397	162	25448	537	2									
MTNR1A	0	.	GRCh38	chr4	186534159	186534159	+	Missense_Mutation	SNP	G	G	T																															gatcatggggacgaggaagtGgaaaaccaccacggcgatgg																										C3N-01415_TP	C3N-01415_NB	G	G																c.583C>A	p.His195Asn	p.H195N	ENST00000307161	2/2	120	103	17	169	169	0	strelka-varscan	MTNR1A,missense_variant,p.His195Asn,ENST00000307161,NM_005958.3;RP11-215A19.2,intron_variant,,ENST00000509111,;	T	ENST00000307161	Transcript	missense_variant	785/1289	583/1053	195/350	H/N	Cac/Aac	COSM5400964	1		-1	MTNR1A	HGNC	HGNC:7463	protein_coding	YES	CCDS3848.1	ENSP00000302811	P48039		UPI0000050407	NM_005958.3	deleterious(0)		2/2		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF52,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00857											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	78	186534159	186534159	G	T	1	0	0	0	0	1	0	0	0	9938	1348	47	2		2	MTNR1A	4	186534159	Missense_Mutation	SNP	G	C3N-01415_TP	1	186534159	3680396	163	25449	537	2									
TRIML1	0	.	GRCh38	chr4	188142418	188142418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgacccagcaaatcagaaGcctaagcaaaatgatcgcac	17	5	7	12	1	1	3	1	2	0	1	2	3	1	3	2	0	3	3	2	0	5	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.671G>T	p.Ser224Ile	p.S224I	ENST00000332517	3/6	329	266	63	365	365	0	strelka-varscan	TRIML1,missense_variant,p.Ser224Ile,ENST00000332517,NM_178556.3;RP11-366H4.3,intron_variant,,ENST00000501322,;TRIML1,upstream_gene_variant,,ENST00000507581,;TRIML1,upstream_gene_variant,,ENST00000512233,;	T	ENST00000332517	Transcript	missense_variant	811/1797	671/1407	224/468	S/I	aGc/aTc		1		1	TRIML1	HGNC	HGNC:26698	protein_coding	YES	CCDS3851.1	ENSP00000327738	Q8N9V2		UPI000006FC8A	NM_178556.3	deleterious(0.03)		3/6		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF350																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	188142418	188142418	G	T	1	0	0	0	0	1	0	0	0	17047	971	34	2		2	TRIML1	4	188142418	Missense_Mutation	SNP	G	C3N-01415_TP	1608259	188142418	2072137	164	25450											
ZDHHC11B	0	.	GRCh38	chr5	756093	756093	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcggccgggtcgatgcAggacgcgatcaggtggacga	8	5	19	9	6	1	0	1	0	0	0	3	6	1	3	1	6	1	1	1	6	0	0	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.307T>C	p.Cys103Arg	p.C103R	ENST00000508859	2/11	72	64	8	71	71	0	varscan-mutect	ZDHHC11B,missense_variant,p.Cys103Arg,ENST00000508859,;ZDHHC11B,missense_variant,p.Cys92Arg,ENST00000382776,;ZDHHC11B,upstream_gene_variant,,ENST00000622126,;	G	ENST00000508859	Transcript	missense_variant	307/1631	307/1149	103/382	C/R	Tgc/Cgc		1		-1	ZDHHC11B	HGNC	HGNC:32962	protein_coding	YES		ENSP00000442373		F5H7P5	UPI000204A7C8		deleterious(0.01)		2/11		Transmembrane_helices:TMhelix,hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF83																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	78	756093	756093	A	G	1	0	0	0	0	1	0	0	0	18177	188	7	5		5	ZDHHC11B	5	756093	Missense_Mutation	SNP	A	C3N-01415_TP		756093	180782166	165	25451											
ZDHHC11	0	.	GRCh38	chr5	848609	848609	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcggccgggtcgatgcAggacgcgatcaggtggacga	8	5	19	9	6	1	0	1	0	0	0	3	6	1	3	1	6	1	1	1	6	0	0	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.274T>C	p.Cys92Arg	p.C92R	ENST00000283441	2/13	119	112	7	89	89	0	varscan-mutect	ZDHHC11,missense_variant,p.Cys92Arg,ENST00000283441,NM_024786.2;ZDHHC11,intron_variant,,ENST00000511193,;ZDHHC11,upstream_gene_variant,,ENST00000511539,;ZDHHC11,non_coding_transcript_exon_variant,,ENST00000512775,;ZDHHC11,intron_variant,,ENST00000508951,;ZDHHC11,upstream_gene_variant,,ENST00000507800,;BRD9,downstream_gene_variant,,ENST00000493082,;ZDHHC11,upstream_gene_variant,,ENST00000503880,;ZDHHC11,upstream_gene_variant,,ENST00000505815,;ZDHHC11,upstream_gene_variant,,ENST00000512190,;	G	ENST00000283441	Transcript	missense_variant	658/2604	274/1239	92/412	C/R	Tgc/Cgc		1		-1	ZDHHC11	HGNC	HGNC:19158	protein_coding	YES	CCDS3857.1	ENSP00000283441	Q9H8X9		UPI000013C384	NM_024786.2	deleterious(0.01)		2/13		hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF83,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	848609	848609	A	G	1	0	0	0	0	1	0	0	0	18176	188	7	5		5	ZDHHC11	5	848609	Missense_Mutation	SNP	A	C3N-01415_TP	92516	848609	180689650	166	25452											
CLPTM1L	0	.	GRCh38	chr5	1338996	1338996	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcgtcggcttcttctccgCctcgatctgctgttaagtga	5	14	9	13	4	3	1	0	1	3	0	7	2	3	1	2	1	1	3	2	1	1	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.463G>T	p.Ala155Ser	p.A155S	ENST00000320895	4/17	161	139	22	108	108	0	strelka-varscan-mutect	CLPTM1L,missense_variant,p.Ala155Ser,ENST00000320895,NM_030782.3;CLPTM1L,missense_variant,p.Ala22Ser,ENST00000630539,;CLPTM1L,missense_variant,p.Ala22Ser,ENST00000507807,;CLPTM1L,upstream_gene_variant,,ENST00000508765,;CLPTM1L,upstream_gene_variant,,ENST00000503151,;CLPTM1L,upstream_gene_variant,,ENST00000511786,;	A	ENST00000320895	Transcript	missense_variant	721/2500	463/1617	155/538	A/S	Gcg/Tcg		1		-1	CLPTM1L	HGNC	HGNC:24308	protein_coding	YES	CCDS3862.1	ENSP00000313854	Q96KA5		UPI00000707DF	NM_030782.3	tolerated(0.4)		4/17		hmmpanther:PTHR21347:SF1,hmmpanther:PTHR21347,Pfam_domain:PF05602																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	1338996	1338996	C	A	1	0	0	0	0	1	0	0	0	3327	739	26	2		2	CLPTM1L	5	1338996	Missense_Mutation	SNP	C	C3N-01415_TP	490387	1338996	180199263	167	25453											
IRX1	0	.	GRCh38	chr5	3601028	3601028	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccgcggatcctagcagccctCccgtccgcctgattaagggt	6	8	11	16	4	0	1	0	1	0	0	3	2	3	2	6	2	2	1	6	2	2	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1431C>G	p.=	p.L477L	ENST00000302006	4/4	683	645	38	376	376	0	strelka-varscan-mutect	IRX1,synonymous_variant,p.=,ENST00000302006,NM_024337.3;CTD-2012M11.3,upstream_gene_variant,,ENST00000559410,;	G	ENST00000302006	Transcript	synonymous_variant	1483/1858	1431/1443	477/480	L	ctC/ctG		1		1	IRX1	HGNC	HGNC:14358	protein_coding	YES	CCDS34132.1	ENSP00000305244	P78414		UPI00001B6455	NM_024337.3			4/4		hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF13																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	78	3601028	3601028	C	G	1	0	0	0	0	0	0	0	1	7751	842	30	4		4	IRX1	5	3601028	Silent	SNP	C	C3N-01415_TP	2262032	3601028	177937231	168	25454											
CTNND2	0	.	GRCh38	chr5	11384858	11384858	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggcgaggtcacgcggatCggggacaggccggccgagga	7	2	22	10	6	1	0	1	0	0	0	2	5	1	3	2	9	0	0	2	9	0	0	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.984G>A	p.=	p.P328P	ENST00000304623	7/22	495	429	66	295	295	0	strelka-varscan-mutect	CTNND2,synonymous_variant,p.=,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,synonymous_variant,p.=,ENST00000511377,NM_001288715.1;CTNND2,intron_variant,,ENST00000503622,NM_001288716.1;CTNND2,intron_variant,,ENST00000502551,;CTNND2,downstream_gene_variant,,ENST00000513598,;CTNND2,non_coding_transcript_exon_variant,,ENST00000506735,;CTNND2,intron_variant,,ENST00000504354,;CTNND2,intron_variant,,ENST00000511278,;CTNND2,upstream_gene_variant,,ENST00000495388,;CTNND2,downstream_gene_variant,,ENST00000514132,;CTNND2,non_coding_transcript_exon_variant,,ENST00000507430,;CTNND2,intron_variant,,ENST00000513588,;CTNND2,intron_variant,,ENST00000504499,;	T	ENST00000304623	Transcript	synonymous_variant	1174/5481	984/3678	328/1225	P	ccG/ccA		1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1			7/22		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	11384858	11384858	C	T	1	0	0	0	0	0	0	0	1	3829	871	31	1		1	CTNND2	5	11384858	Silent	SNP	C	C3N-01415_TP	7783830	11384858	170153401	169	25455											
FBXL7	0	.	GRCh38	chr5	15928079	15928079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatccggctcgcctccaGaccccagaaggagcaggcca	9	4	11	17	2	1	2	1	0	0	2	4	3	3	3	6	3	1	3	6	3	1	0	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.317G>T	p.Arg106Ile	p.R106I	ENST00000504595	3/4	204	168	36	132	132	0	strelka-varscan-mutect	FBXL7,missense_variant,p.Arg106Ile,ENST00000504595,NM_012304.4;FBXL7,missense_variant,p.Arg64Ile,ENST00000329673,;FBXL7,missense_variant,p.Arg59Ile,ENST00000510662,NM_001278317.1;	T	ENST00000504595	Transcript	missense_variant	798/4562	317/1476	106/491	R/I	aGa/aTa		1		1	FBXL7	HGNC	HGNC:13604	protein_coding	YES	CCDS54833.1	ENSP00000423630	Q9UJT9		UPI00000724E0	NM_012304.4	tolerated(0.06)		3/4		hmmpanther:PTHR24006																	MODERATE	1	SNV	1			1										PASS		rs1293082391	.												T	3	4	78	15928079	15928079	G	T	1	0	0	0	0	1	0	0	0	5587	942	33	2		2	FBXL7	5	15928079	Missense_Mutation	SNP	G	C3N-01415_TP	4543221	15928079	165610180	170	25456											
FBXL7	0	.	GRCh38	chr5	15936964	15936964	+	Silent	SNP	G	G	C																															tgccctttggtatccgacacGggcctggagtgcctggccct																								novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1254G>C	p.=	p.T418T	ENST00000504595	4/4	587	513	74	398	398	0	strelka-varscan-mutect	FBXL7,synonymous_variant,p.=,ENST00000504595,NM_012304.4;FBXL7,synonymous_variant,p.=,ENST00000329673,;FBXL7,synonymous_variant,p.=,ENST00000510662,NM_001278317.1;MIR887,downstream_gene_variant,,ENST00000401258,;	C	ENST00000504595	Transcript	synonymous_variant	1735/4562	1254/1476	418/491	T	acG/acC		1		1	FBXL7	HGNC	HGNC:13604	protein_coding	YES	CCDS54833.1	ENSP00000423630	Q9UJT9		UPI00000724E0	NM_012304.4			4/4		Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24006,SMART_domains:SM00367,Superfamily_domains:SSF52047																	LOW	1	SNV	1			1										PASS		rs1432788839	.												C	2	2	78	15936964	15936964	G	C	1	0	0	0	0	0	0	0	1	5587	1103	39	4		4	FBXL7	5	15936964	Silent	SNP	G	C3N-01415_TP	8885	15936964	165601295	171	25457	538	2									
FBXL7	0	.	GRCh38	chr5	15936965	15936965	+	Missense_Mutation	SNP	G	G	T																															gccctttggtatccgacacgGgcctggagtgcctggccctg																								novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1255G>T	p.Gly419Cys	p.G419C	ENST00000504595	4/4	578	505	73	394	394	0	strelka-varscan-mutect	FBXL7,missense_variant,p.Gly419Cys,ENST00000504595,NM_012304.4;FBXL7,missense_variant,p.Gly377Cys,ENST00000329673,;FBXL7,missense_variant,p.Gly372Cys,ENST00000510662,NM_001278317.1;MIR887,downstream_gene_variant,,ENST00000401258,;	T	ENST00000504595	Transcript	missense_variant	1736/4562	1255/1476	419/491	G/C	Ggc/Tgc		1		1	FBXL7	HGNC	HGNC:13604	protein_coding	YES	CCDS54833.1	ENSP00000423630	Q9UJT9		UPI00000724E0	NM_012304.4	deleterious(0)		4/4		Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24006,SMART_domains:SM00367,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	15936965	15936965	G	T	1	0	0	0	0	1	0	0	0	5587	1232	43	2		2	FBXL7	5	15936965	Missense_Mutation	SNP	G	C3N-01415_TP	1	15936965	165601294	172	25458	538	2									
PRDM9	0	.	GRCh38	chr5	23527703	23527703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcggggctttagcgataGgtcaagcctctgctatcacc	7	10	13	11	2	3	0	2	0	1	0	3	1	3	0	2	4	3	2	2	4	4	4	rs762274382		C3N-01415_TP	C3N-01415_NB	G	G																c.2615G>T	p.Arg872Met	p.R872M	ENST00000296682	11/11	433	365	68	357	354	3	strelka-varscan	PRDM9,missense_variant,p.Arg872Met,ENST00000296682,NM_020227.2;PRDM9,downstream_gene_variant,,ENST00000635252,;	T	ENST00000296682	Transcript	missense_variant	2797/3691	2615/2685	872/894	R/M	aGg/aTg	rs762274382	1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	deleterious(0.03)		11/11		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	23527703	23527703	G	T	1	0	0	0	0	1	0	0	0	12595	1000	35	2		2	PRDM9	5	23527703	Missense_Mutation	SNP	G	C3N-01415_TP	7590738	23527703	158010556	173	25459											
CDH9	0	.	GRCh38	chr5	26906829	26906829	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttgcagttacttgtataAcagatgtacctacatgaaac	13	13	7	8	0	0	2	0	1	0	1	0	2	0	2	1	0	6	5	1	0	6	7			C3N-01415_TP	C3N-01415_NB	A	A																c.533T>A	p.Val178Asp	p.V178D	ENST00000231021	4/12	207	120	87	138	137	1	strelka-varscan	CDH9,missense_variant,p.Val178Asp,ENST00000231021,NM_016279.3;CDH9,non_coding_transcript_exon_variant,,ENST00000505045,;	T	ENST00000231021	Transcript	missense_variant	706/3079	533/2370	178/789	V/D	gTt/gAt	COSM3854629	1		-1	CDH9	HGNC	HGNC:1768	protein_coding	YES	CCDS3893.1	ENSP00000231021	Q9ULB4		UPI000013C945	NM_016279.3	deleterious(0)		4/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF99,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Prints_domain:PR00205											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	78	26906829	26906829	A	T	1	0	0	0	0	1	0	0	0	2820	43	2	4		4	CDH9	5	26906829	Missense_Mutation	SNP	A	C3N-01415_TP	3379126	26906829	154631430	174	25460											
TARS	0	.	GRCh38	chr5	33461292	33461292	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagtatgggatcaagctgaGaaagtaagtggtgtttttca	13	12	13	3	0	2	1	2	1	0	1	2	4	2	2	0	2	1	4	0	2	5	4			C3N-01415_TP	C3N-01415_NB	G	G																c.1647G>C	p.Glu549Asp	p.E549D	ENST00000455217	14/20	149	140	9	106	106	0	strelka-varscan	TARS,missense_variant,p.Glu516Asp,ENST00000265112,NM_152295.4;TARS,missense_variant,p.Glu516Asp,ENST00000502553,NM_001258437.1;TARS,missense_variant,p.Glu549Asp,ENST00000455217,NM_001258438.1;TARS,non_coding_transcript_exon_variant,,ENST00000509410,;TARS,3_prime_UTR_variant,,ENST00000508361,;TARS,3_prime_UTR_variant,,ENST00000507716,;TARS,3_prime_UTR_variant,,ENST00000509731,;TARS,downstream_gene_variant,,ENST00000504698,;	C	ENST00000455217	Transcript	missense_variant	1769/2523	1647/2271	549/756	E/D	gaG/gaC	COSM5695189	1		1	TARS	HGNC	HGNC:11572	protein_coding	YES	CCDS58943.1	ENSP00000387710	P26639		UPI00017A6D60	NM_001258438.1	deleterious(0)		14/20		PROSITE_profiles:PS50862,HAMAP:MF_00184,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF36,TIGRFAM_domain:TIGR00418,Gene3D:3.30.930.10,Pfam_domain:PF00587,Superfamily_domains:SSF55681											1						MODERATE	1	SNV	2		1	1										PASS		.	.												C	3	2	78	33461292	33461292	G	C	1	0	0	0	0	1	0	0	0	15958	956	33	4		4	TARS	5	33461292	Missense_Mutation	SNP	G	C3N-01415_TP	6554463	33461292	148076967	175	25461											
ADAMTS12	0	.	GRCh38	chr5	33527231	33527231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaccgttgccttctttgcCtttgggtgtgtgtgatgtgt	3	17	13	8	1	1	1	0	1	1	0	1	1	1	1	3	1	3	2	3	1	1	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.4742G>C	p.Arg1581Thr	p.R1581T	ENST00000504830	24/24	494	465	29	299	299	0	strelka-varscan	ADAMTS12,missense_variant,p.Arg1581Thr,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Arg1496Thr,ENST00000352040,;	G	ENST00000504830	Transcript	missense_variant	5078/8774	4742/4785	1581/1594	R/T	aGg/aCg		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	deleterious(0.01)		24/24		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	33527231	33527231	C	G	1	0	0	0	0	1	0	0	0	301	681	24	4		4	ADAMTS12	5	33527231	Missense_Mutation	SNP	C	C3N-01415_TP	65939	33527231	148011028	176	25462											
FGF10	0	.	GRCh38	chr5	44388404	44388404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgaccttcccgttcttCtcaatcttgagaaagtactt	8	14	6	13	2	3	2	1	2	3	1	5	3	4	2	3	0	1	3	3	0	3	6	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.279G>T	p.Glu93Asp	p.E93D	ENST00000264664	1/3	684	638	46	520	519	1	strelka-varscan	FGF10,missense_variant,p.Glu93Asp,ENST00000264664,NM_004465.1;FGF10,downstream_gene_variant,,ENST00000513107,;FGF10-AS1,upstream_gene_variant,,ENST00000502457,;	A	ENST00000264664	Transcript	missense_variant	394/2193	279/627	93/208	E/D	gaG/gaT		1		-1	FGF10	HGNC	HGNC:3666	protein_coding	YES	CCDS3950.1	ENSP00000264664	O15520		UPI000004065F	NM_004465.1	tolerated(1)		1/3		hmmpanther:PTHR11486:SF21,hmmpanther:PTHR11486,Gene3D:2.80.10.50,Pfam_domain:PF00167,SMART_domains:SM00442,Superfamily_domains:SSF50353																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	44388404	44388404	C	A	1	0	0	0	0	1	0	0	0	5703	912	32	2		2	FGF10	5	44388404	Missense_Mutation	SNP	C	C3N-01415_TP	10861173	44388404	137149855	177	25463											
ITGA2	0	.	GRCh38	chr5	53055620	53055620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactgacggtgaatcacatGatggttcaatgttgaaagct	13	12	10	6	1	2	4	2	4	0	0	2	4	2	4	0	2	2	3	0	2	4	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.862G>T	p.Asp288Tyr	p.D288Y	ENST00000296585	8/30	934	877	57	653	653	0	strelka-varscan-mutect	ITGA2,missense_variant,p.Asp288Tyr,ENST00000296585,NM_002203.3;ITGA2,missense_variant,p.Asp288Tyr,ENST00000509960,;ITGA2,missense_variant,p.Asp288Tyr,ENST00000510722,;ITGA2,missense_variant,p.Asp288Tyr,ENST00000509814,;ITGA2,3_prime_UTR_variant,,ENST00000503810,;ITGA2,3_prime_UTR_variant,,ENST00000513685,;	T	ENST00000296585	Transcript	missense_variant	1005/7869	862/3546	288/1181	D/Y	Gat/Tat		1		1	ITGA2	HGNC	HGNC:6137	protein_coding	YES	CCDS3957.1	ENSP00000296585	P17301		UPI0000169C36	NM_002203.3	deleterious(0)		8/30		PROSITE_profiles:PS50234,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		rs1187559883	.												T	3	4	78	53055620	53055620	G	T	1	0	0	0	0	1	0	0	0	7782	1290	45	2		2	ITGA2	5	53055620	Missense_Mutation	SNP	G	C3N-01415_TP	8667216	53055620	128482639	178	25464											
ARL15	0	.	GRCh38	chr5	54171862	54171862	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccagaacctgtgaggcCtatgcaaaccaggtcatatt	11	11	9	10	0	1	2	1	1	0	1	1	2	1	2	4	2	4	1	4	2	4	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.115G>C	p.Gly39Arg	p.G39R	ENST00000504924	2/5	280	164	116	211	211	0	strelka-varscan-mutect	ARL15,missense_variant,p.Gly39Arg,ENST00000504924,NM_019087.2;ARL15,missense_variant,p.Gly39Arg,ENST00000620747,;ARL15,missense_variant,p.Gly39Arg,ENST00000507646,;ARL15,intron_variant,,ENST00000502271,;ARL15,non_coding_transcript_exon_variant,,ENST00000510591,;ARL15,non_coding_transcript_exon_variant,,ENST00000505630,;ARL15,non_coding_transcript_exon_variant,,ENST00000505383,;	G	ENST00000504924	Transcript	missense_variant	209/2486	115/615	39/204	G/R	Ggc/Cgc		1		-1	ARL15	HGNC	HGNC:25945	protein_coding	YES	CCDS54850.1	ENSP00000433427	Q9NXU5		UPI000006D66A	NM_019087.2	deleterious(0)		2/5		Gene3D:3.40.50.300,Pfam_domain:PF00025,Prints_domain:PR00328,PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF192,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	54171862	54171862	C	G	1	0	0	0	0	1	0	0	0	1070	681	24	4		4	ARL15	5	54171862	Missense_Mutation	SNP	C	C3N-01415_TP	1116242	54171862	127366397	179	25465											
RNF180	0	.	GRCh38	chr5	64212109	64212109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaatatttgtcatgtgtgGcacatgaatgtagaagccct	13	12	9	7	0	1	2	1	1	0	1	1	2	1	2	1	1	1	2	1	1	6	3	rs765050615		C3N-01415_TP	C3N-01415_NB	G	G																c.180G>T	p.Trp60Cys	p.W60C	ENST00000389100	3/8	232	214	18	285	285	0	strelka-varscan	RNF180,missense_variant,p.Trp60Cys,ENST00000389100,NM_001113561.1;RNF180,missense_variant,p.Trp60Cys,ENST00000296615,NM_178532.3;RNF180,missense_variant,p.Trp60Cys,ENST00000504296,;	T	ENST00000389100	Transcript	missense_variant	252/4906	180/1779	60/592	W/C	tgG/tgT	rs765050615	1		1	RNF180	HGNC	HGNC:27752	protein_coding	YES	CCDS47219.1	ENSP00000373752	Q86T96		UPI0000141201	NM_001113561.1	deleterious(0)		3/8		hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	64212109	64212109	G	T	1	0	0	0	0	1	0	0	0	13641	1212	42	2		2	RNF180	5	64212109	Missense_Mutation	SNP	G	C3N-01415_TP	10040247	64212109	117326150	180	25466											
TRIM23	0	.	GRCh38	chr5	65591803	65591803	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactccagcagctacaagtTgccgtgagagccagtccaac	12	7	9	13	1	0	1	0	1	0	1	2	2	2	1	4	0	7	3	4	0	4	3	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.1691A>G	p.Gln564Arg	p.Q564R	ENST00000231524	11/11	179	124	55	238	238	0	strelka-varscan	TRIM23,missense_variant,p.Gln564Arg,ENST00000231524,NM_001656.3;TRIM23,intron_variant,,ENST00000381018,NM_033227.2;TRIM23,intron_variant,,ENST00000274327,NM_033228.2;PPWD1,downstream_gene_variant,,ENST00000535264,NM_001278926.1;PPWD1,downstream_gene_variant,,ENST00000261308,NM_015342.3,NM_001278927.1;PPWD1,downstream_gene_variant,,ENST00000538977,NM_001278929.1;PPWD1,downstream_gene_variant,,ENST00000510930,;PPWD1,downstream_gene_variant,,ENST00000511908,;PPWD1,downstream_gene_variant,,ENST00000513773,;	C	ENST00000231524	Transcript	missense_variant	2063/4186	1691/1725	564/574	Q/R	cAa/cGa		1		-1	TRIM23	HGNC	HGNC:660	protein_coding	YES	CCDS3987.1	ENSP00000231524	P36406		UPI0000125DB3	NM_001656.3	deleterious(0.02)		11/11		Gene3D:3.40.50.300,Pfam_domain:PF00025,PROSITE_profiles:PS51417,hmmpanther:PTHR11711,SMART_domains:SM00175,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	65591803	65591803	T	C	1	0	0	0	0	1	0	0	0	16986	1812	63	5		5	TRIM23	5	65591803	Missense_Mutation	SNP	T	C3N-01415_TP	1379694	65591803	115946456	181	25467											
MAP1B	0	.	GRCh38	chr5	72196463	72196463	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaggaggaatatgagccGgaaaaaatggaagctgaaga	19	4	15	3	1	0	4	0	2	0	2	0	9	0	8	1	4	2	1	1	4	7	1	rs150527364		C3N-01415_TP	C3N-01415_NB	G	G																c.3108G>A	p.=	p.P1036P	ENST00000296755	5/7	297	270	27	393	389	4	strelka-varscan	MAP1B,synonymous_variant,p.=,ENST00000296755,NM_001324255.1,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;	A	ENST00000296755	Transcript	synonymous_variant	3406/12036	3108/7407	1036/2468	P	ccG/ccA	rs150527364,COSM288063	1		1	MAP1B	HGNC	HGNC:6836	protein_coding	YES	CCDS4012.1	ENSP00000296755	P46821		UPI000013E382	NM_001324255.1,NM_005909.3			5/7		Low_complexity_(Seg):seg,hmmpanther:PTHR13843:SF5,hmmpanther:PTHR13843											0,1						LOW	1	SNV	2		0,1	1										PASS		.	.												A	2	1	78	72196463	72196463	G	A	1	0	0	0	0	0	0	0	1	9151	1103	39	1		1	MAP1B	5	72196463	Silent	SNP	G	C3N-01415_TP	6604660	72196463	109341796	182	25468											
TMEM171	0	.	GRCh38	chr5	73131579	73131579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcctctgaaagagactGtgaatctatatataccattt	13	13	7	8	0	2	3	0	2	2	1	2	4	2	3	2	0	3	1	2	0	6	5	rs371795452		C3N-01415_TP	C3N-01415_NB	G	G																c.824G>T	p.Cys275Phe	p.C275F	ENST00000454765	4/4	131	113	18	177	177	0	strelka-varscan	TMEM171,missense_variant,p.Cys275Phe,ENST00000454765,NM_173490.7;TMEM171,missense_variant,p.Cys274Phe,ENST00000287773,NM_001161342.2;RP11-232L2.2,downstream_gene_variant,,ENST00000508255,;	T	ENST00000454765	Transcript	missense_variant	1297/1535	824/975	275/324	C/F	tGt/tTt	rs371795452	1		1	TMEM171	HGNC	HGNC:27031	protein_coding	YES	CCDS4017.1	ENSP00000415030	Q8WVE6		UPI000020CAC5	NM_173490.7	tolerated(0.7)		4/4		hmmpanther:PTHR31617:SF0,hmmpanther:PTHR31617,Pfam_domain:PF15471																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	73131579	73131579	G	T	1	0	0	0	0	1	0	0	0	16532	1377	48	2		2	TMEM171	5	73131579	Missense_Mutation	SNP	G	C3N-01415_TP	935116	73131579	108406680	183	25469											
TMEM174	0	.	GRCh38	chr5	73173865	73173865	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcacggacggtggaaatCacaggtatggcgtgtctact	9	11	12	9	3	3	0	2	0	1	0	3	2	3	2	0	5	1	1	0	5	3	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.622C>A	p.His208Asn	p.H208N	ENST00000296776	1/2	80	61	19	127	127	0	strelka-varscan	TMEM174,missense_variant,p.His208Asn,ENST00000296776,NM_153217.2;TMEM174,intron_variant,,ENST00000511737,;	A	ENST00000296776	Transcript	missense_variant	671/1759	622/732	208/243	H/N	Cac/Aac		1		1	TMEM174	HGNC	HGNC:28187	protein_coding	YES	CCDS4018.1	ENSP00000296776	Q8WUU8	A0A024RAN0	UPI0000037779	NM_153217.2	tolerated(0.54)		1/2		hmmpanther:PTHR31020,Pfam_domain:PF15029																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	73173865	73173865	C	A	1	0	0	0	0	1	0	0	0	16534	840	29	2		2	TMEM174	5	73173865	Missense_Mutation	SNP	C	C3N-01415_TP	42286	73173865	108364394	184	25470											
ANKRD31	0	.	GRCh38	chr5	75196200	75196200	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctctgccttcacttagttCctgtgtattacaaatagaaa	12	15	5	9	0	2	1	1	0	1	1	4	1	3	1	2	0	2	2	2	0	6	6	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.448G>T	p.Glu150Ter	p.E150*	ENST00000274361	7/25	58	46	12	83	83	0	strelka-varscan	ANKRD31,stop_gained,p.Glu150Ter,ENST00000506364,;ANKRD31,stop_gained,p.Glu150Ter,ENST00000274361,NM_001164443.1;	A	ENST00000274361	Transcript	stop_gained,splice_region_variant	640/6036	448/5622	150/1873	E/*	Gaa/Taa		1		-1	ANKRD31	HGNC	HGNC:26853	protein_coding	YES	CCDS47233.1	ENSP00000274361	Q8N7Z5		UPI00001D7FAE	NM_001164443.1			7/25																			HIGH	1	SNV	5			1										PASS		.	.												A	4	1	78	75196200	75196200	C	A	1	0	0	0	0	0	1	0	0	764	869	30	2		2	ANKRD31	5	75196200	Nonsense_Mutation	SNP	C	C3N-01415_TP	2022335	75196200	106342059	185	25471											
GPR150	0	.	GRCh38	chr5	95621516	95621516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgggaaccgctggacgaggGcggcttgcgcccaccccctc	5	4	15	17	5	0	0	0	0	0	0	1	3	0	2	4	4	2	2	4	4	1	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1241G>A	p.Gly414Asp	p.G414D	ENST00000380007	1/1	292	203	89	356	356	0	strelka-varscan	GPR150,missense_variant,p.Gly414Asp,ENST00000380007,NM_199243.1;	A	ENST00000380007	Transcript	missense_variant	1439/2065	1241/1305	414/434	G/D	gGc/gAc		1		1	GPR150	HGNC	HGNC:23628	protein_coding	YES	CCDS4074.1	ENSP00000369344	Q8NGU9	G4XH61	UPI000003BCD0	NM_199243.1	tolerated(0.08)		1/1		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF650																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	78	95621516	95621516	G	A	1	0	0	0	0	1	0	0	0	6542	1203	42	3		3	GPR150	5	95621516	Missense_Mutation	SNP	G	C3N-01415_TP	20425316	95621516	85916743	186	25472											
KCNN2	0	.	GRCh38	chr5	114463126	114463126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aataacttttctctccattgGttatggtgacatggtaccta	10	16	7	8	0	1	1	0	1	1	0	3	1	2	1	2	3	2	2	2	3	5	7	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1079G>A	p.Gly360Asp	p.G360D	ENST00000512097	5/9	200	164	36	233	233	0	strelka-varscan	KCNN2,missense_variant,p.Gly360Asp,ENST00000512097,;KCNN2,missense_variant,p.Gly360Asp,ENST00000264773,NM_021614.3;KCNN2,missense_variant,p.Gly360Asp,ENST00000631899,;KCNN2,missense_variant,p.Gly12Asp,ENST00000610748,NM_001278204.1;KCNN2,missense_variant,p.Gly12Asp,ENST00000503706,NM_170775.2;KCNN2,non_coding_transcript_exon_variant,,ENST00000507750,;KCNN2,missense_variant,p.Gly12Asp,ENST00000505491,;	A	ENST00000512097	Transcript	missense_variant	2097/3076	1079/1740	360/579	G/D	gGt/gAt		1		1	KCNN2	HGNC	HGNC:6291	protein_coding	YES	CCDS4114.1	ENSP00000427120	Q9H2S1		UPI000013D56A		deleterious(0)		5/9		Transmembrane_helices:TMhelix,hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF43,Gene3D:1.10.287.70,Pfam_domain:PF07885,Superfamily_domains:SSF81324																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	78	114463126	114463126	G	A	1	0	0	0	0	1	0	0	0	7995	1261	44	3		3	KCNN2	5	114463126	Missense_Mutation	SNP	G	C3N-01415_TP	18841610	114463126	67075133	187	25473											
KCNN2	0	.	GRCh38	chr5	114496124	114496124	+	Missense_Mutation	SNP	C	C	G																															tgctgagcggtcccggtcctCgtccaggaggcggcggtcct																								rs142417497		C3N-01415_TP	C3N-01415_NB	C	C																c.1682C>G	p.Ser561Trp	p.S561W	ENST00000512097	9/9	257	215	42	345	345	0	strelka-varscan	KCNN2,missense_variant,p.Ser561Trp,ENST00000512097,;KCNN2,missense_variant,p.Ser561Trp,ENST00000264773,NM_021614.3;KCNN2,missense_variant,p.Ser564Trp,ENST00000631899,;KCNN2,missense_variant,p.Ser213Trp,ENST00000610748,NM_001278204.1;KCNN2,missense_variant,p.Ser213Trp,ENST00000503706,NM_170775.2;RP11-492A10.1,non_coding_transcript_exon_variant,,ENST00000514115,;KCNN2,downstream_gene_variant,,ENST00000507750,;KCNN2,downstream_gene_variant,,ENST00000505491,;KCNN2,downstream_gene_variant,,ENST00000506812,;KCNN2,downstream_gene_variant,,ENST00000632892,;	G	ENST00000512097	Transcript	missense_variant	2700/3076	1682/1740	561/579	S/W	tCg/tGg	rs142417497	1		1	KCNN2	HGNC	HGNC:6291	protein_coding	YES	CCDS4114.1	ENSP00000427120	Q9H2S1		UPI000013D56A		deleterious_low_confidence(0)		9/9		Low_complexity_(Seg):seg,hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF43																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	78	114496124	114496124	C	G	1	0	0	0	0	1	0	0	0	7995	893	31	4		4	KCNN2	5	114496124	Missense_Mutation	SNP	C	C3N-01415_TP	32998	114496124	67042135	188	25474	539	2									
KCNN2	0	.	GRCh38	chr5	114496125	114496125	+	Silent	SNP	G	G	T																															gctgagcggtcccggtcctcGtccaggaggcggcggtcctc																								rs145963927		C3N-01415_TP	C3N-01415_NB	G	G																c.1683G>T	p.=	p.S561S	ENST00000512097	9/9	248	206	42	326	326	0	strelka-varscan	KCNN2,synonymous_variant,p.=,ENST00000512097,;KCNN2,synonymous_variant,p.=,ENST00000264773,NM_021614.3;KCNN2,synonymous_variant,p.=,ENST00000631899,;KCNN2,synonymous_variant,p.=,ENST00000610748,NM_001278204.1;KCNN2,synonymous_variant,p.=,ENST00000503706,NM_170775.2;RP11-492A10.1,non_coding_transcript_exon_variant,,ENST00000514115,;KCNN2,downstream_gene_variant,,ENST00000507750,;KCNN2,downstream_gene_variant,,ENST00000505491,;KCNN2,downstream_gene_variant,,ENST00000506812,;KCNN2,downstream_gene_variant,,ENST00000632892,;	T	ENST00000512097	Transcript	synonymous_variant	2701/3076	1683/1740	561/579	S	tcG/tcT	rs145963927,COSM3768097,COSM3768098	1		1	KCNN2	HGNC	HGNC:6291	protein_coding	YES	CCDS4114.1	ENSP00000427120	Q9H2S1		UPI000013D56A				9/9		Low_complexity_(Seg):seg,hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF43											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		.	.												T	2	4	78	114496125	114496125	G	T	1	0	0	0	0	0	0	0	1	7995	1132	40	1		1	KCNN2	5	114496125	Silent	SNP	G	C3N-01415_TP	1	114496125	67042134	189	25475	539	2									
FBN2	0	.	GRCh38	chr5	128263512	128263512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtaattgcaggggttcttgGaggacgagcactcattcacg	9	10	13	9	3	3	0	2	0	1	0	3	3	3	2	0	4	2	4	0	4	1	5	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.8105C>A	p.Ser2702Tyr	p.S2702Y	ENST00000508053	69/71	477	349	128	601	601	0	strelka-varscan-mutect	FBN2,missense_variant,p.Ser2702Tyr,ENST00000508053,;FBN2,missense_variant,p.Ser2702Tyr,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Ser2701Tyr,ENST00000619499,;	T	ENST00000508053	Transcript	missense_variant	9080/11132	8105/8739	2702/2912	S/Y	tCc/tAc		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		tolerated(1)		69/71		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	78	128263512	128263512	G	T	1	0	0	0	0	1	0	0	0	5566	1174	41	2		2	FBN2	5	128263512	Missense_Mutation	SNP	G	C3N-01415_TP	13767387	128263512	53274747	190	25476											
FBN2	0	.	GRCh38	chr5	128291564	128291564	+	Frame_Shift_Del	DEL	C	C	-																															cattatcagatagtacaaagCcaggggggcagaggcactgg																								novel		C3N-01415_TP	C3N-01415_NB	C	C																c.6257delG	p.Gly2086AlafsTer163	p.G2086Afs*163	ENST00000508053	55/71	312	280	32	430	430	0	sindel-varindel-pindel	FBN2,frameshift_variant,p.Gly2086AlafsTer163,ENST00000508053,;FBN2,frameshift_variant,p.Gly2086AlafsTer163,ENST00000262464,NM_001999.3;FBN2,frameshift_variant,p.Gly2085AlafsTer163,ENST00000619499,;	-	ENST00000508053	Transcript	frameshift_variant	7232/11132	6257/8739	2086/2912	G/X	gGc/gc		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468				55/71		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	78	128291564	128291564	C	-	1	0	1	0	1	0	0	0	0	5566	739	26	0		0	FBN2	5	128291564	Frame_Shift_Del	DEL	C	C3N-01415_TP	28052	128291564	53246695	191	25477											
TRPC7	0	.	GRCh38	chr5	136213449	136213449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctgctaaatgtctttgcCcttgttcaccctcaggtggt	5	14	11	11	0	3	0	2	0	1	0	3	0	3	0	2	3	2	3	2	3	2	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.2575G>A	p.Gly859Ser	p.G859S	ENST00000513104	12/12	145	104	41	198	198	0	strelka-varscan-mutect	TRPC7,missense_variant,p.Gly859Ser,ENST00000513104,NM_020389.2;TRPC7,missense_variant,p.Gly804Ser,ENST00000502753,;TRPC7,missense_variant,p.Gly798Ser,ENST00000378459,NM_001167577.1;TRPC7,missense_variant,p.Gly743Ser,ENST00000352189,NM_001167576.1;TRPC7-AS1,upstream_gene_variant,,ENST00000514459,;TRPC7,3_prime_UTR_variant,,ENST00000503275,;TRPC7,3_prime_UTR_variant,,ENST00000514963,;TRPC7,non_coding_transcript_exon_variant,,ENST00000509288,;	T	ENST00000513104	Transcript	missense_variant	2858/2987	2575/2589	859/862	G/S	Ggc/Agc		1		-1	TRPC7	HGNC	HGNC:20754	protein_coding	YES	CCDS47267.2	ENSP00000426070	Q9HCX4		UPI000004F27A	NM_020389.2	deleterious_low_confidence(0.03)		12/12		Prints_domain:PR01648,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	78	136213449	136213449	C	T	1	0	0	0	0	1	0	0	0	17090	623	22	3		3	TRPC7	5	136213449	Missense_Mutation	SNP	C	C3N-01415_TP	7921885	136213449	45324810	192	25478											
PCDHA8	0	.	GRCh38	chr5	140841829	140841829	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagctaactccgtgttaaccTacaggcttagctctcatgat	10	12	8	11	1	1	1	1	1	1	0	3	2	2	1	2	1	5	4	2	1	4	4			C3N-01415_TP	C3N-01415_NB	T	T																c.508T>A	p.Tyr170Asn	p.Y170N	ENST00000531613	1/4	274	231	43	412	412	0	strelka-varscan-mutect	PCDHA8,missense_variant,p.Tyr170Asn,ENST00000531613,NM_018911.2;PCDHA8,missense_variant,p.Tyr170Asn,ENST00000378123,NM_031856.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA7,downstream_gene_variant,,ENST00000356878,NM_031852.1;	A	ENST00000531613	Transcript	missense_variant	508/5260	508/2853	170/950	Y/N	Tac/Aac	COSM736204	1		1	PCDHA8	HGNC	HGNC:8674	protein_coding	YES	CCDS54919.1	ENSP00000434655	Q9Y5H6		UPI00001273D0	NM_018911.2	deleterious_low_confidence(0)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF125,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE	1	SNV	1		1	1										PASS		rs1470654104	.												A	3	1	78	140841829	140841829	T	A	1	0	0	0	0	1	0	0	0	11617	1522	53	4		4	PCDHA8	5	140841829	Missense_Mutation	SNP	T	C3N-01415_TP	4628380	140841829	40696430	193	25479											
PCDHB11	0	.	GRCh38	chr5	141201787	141201787	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctcccagccctacctGccgctccctgaggcggcacc	4	7	10	20	2	1	1	0	1	1	0	3	1	2	1	6	3	3	3	6	3	1	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2013G>T	p.=	p.L671L	ENST00000354757	1/1	438	313	125	588	587	1	strelka-varscan-mutect	PCDHB11,synonymous_variant,p.=,ENST00000354757,NM_018931.2;PCDHB11,synonymous_variant,p.=,ENST00000624887,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,upstream_gene_variant,,ENST00000624549,;	T	ENST00000354757	Transcript	synonymous_variant	2206/4198	2013/2394	671/797	L	ctG/ctT		1		1	PCDHB11	HGNC	HGNC:8682	protein_coding	YES	CCDS4253.1	ENSP00000346802	Q9Y5F2		UPI00001273E6	NM_018931.2			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF91,Low_complexity_(Seg):seg																	LOW		SNV				1										PASS		.	.												T	2	4	78	141201787	141201787	G	T	1	0	0	0	0	0	0	0	1	11623	1306	46	2		2	PCDHB11	5	141201787	Silent	SNP	G	C3N-01415_TP	359958	141201787	40336472	194	25480											
PCDHGB2	0	.	GRCh38	chr5	141360257	141360257	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattcaattccagaggagcTggccaaaaactcggtcgtag	12	9	10	10	2	1	1	1	0	0	1	4	2	2	2	2	3	2	2	2	3	5	4	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.122T>A	p.Leu41Gln	p.L41Q	ENST00000522605	1/4	232	165	67	336	334	2	strelka-varscan-mutect	PCDHGB2,missense_variant,p.Leu41Gln,ENST00000522605,NM_018923.2;PCDHGB2,missense_variant,p.Leu41Gln,ENST00000622527,NM_032096.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA5,upstream_gene_variant,,ENST00000518069,NM_018918.2;PCDHGA5,upstream_gene_variant,,ENST00000611914,NM_032054.1;PCDHGA4,downstream_gene_variant,,ENST00000612927,NM_032053.2;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000522605	Transcript	missense_variant	122/4602	122/2796	41/931	L/Q	cTg/cAg		1		1	PCDHGB2	HGNC	HGNC:8709	protein_coding	YES	CCDS54924.1	ENSP00000429018	Q9Y5G2		UPI000006EE67	NM_018923.2	deleterious(0.03)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF73,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF08266,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	141360257	141360257	T	A	1	0	0	0	0	1	0	0	0	11650	1580	55	4		4	PCDHGB2	5	141360257	Missense_Mutation	SNP	T	C3N-01415_TP	158470	141360257	40178002	195	25481											
PCDHGA6	0	.	GRCh38	chr5	141374603	141374603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggatttaagctcagtGgtaatagtcacttctcagtg	10	14	10	7	0	4	0	4	0	1	0	5	1	4	1	0	2	1	2	0	2	3	6			C3N-01415_TP	C3N-01415_NB	G	G																c.520G>T	p.Gly174Cys	p.G174C	ENST00000517434	1/4	161	132	29	227	227	0	strelka-varscan-mutect	PCDHGA6,missense_variant,p.Gly174Cys,ENST00000610583,NM_032086.1;PCDHGA6,missense_variant,p.Gly174Cys,ENST00000517434,NM_018919.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB3,downstream_gene_variant,,ENST00000618934,NM_032097.2;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000517434	Transcript	missense_variant	690/4775	520/2799	174/932	G/C	Ggt/Tgt	COSM1186856	1		1	PCDHGA6	HGNC	HGNC:8704	protein_coding	YES	CCDS54926.1	ENSP00000429601	Q9Y5G7		UPI00000715C8	NM_018919.2	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF107,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	78	141374603	141374603	G	T	1	0	0	0	0	1	0	0	0	11645	1348	47	2		2	PCDHGA6	5	141374603	Missense_Mutation	SNP	G	C3N-01415_TP	14346	141374603	40163656	196	25482											
FAM114A2	0	.	GRCh38	chr5	153994957	153994957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattaatgggttaaggacatCtgccatttctttgacctgga	10	14	10	7	0	2	1	0	1	2	0	2	4	2	3	2	3	1	1	2	3	2	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1345G>T	p.Asp449Tyr	p.D449Y	ENST00000351797	13/14	297	252	45	224	224	0	strelka-varscan-mutect	FAM114A2,missense_variant,p.Asp449Tyr,ENST00000351797,NM_001317993.1,NM_001317995.1,NM_018691.2;FAM114A2,missense_variant,p.Asp449Tyr,ENST00000522858,;FAM114A2,missense_variant,p.Asp449Tyr,ENST00000520667,;FAM114A2,missense_variant,p.Asp379Tyr,ENST00000520313,;FAM114A2,non_coding_transcript_exon_variant,,ENST00000518946,;FAM114A2,non_coding_transcript_exon_variant,,ENST00000518914,;	A	ENST00000351797	Transcript	missense_variant	1422/4443	1345/1518	449/505	D/Y	Gat/Tat		1		-1	FAM114A2	HGNC	HGNC:1333	protein_coding	YES	CCDS4323.1	ENSP00000341597	Q9NRY5	A0A140VKG4	UPI000013D5DA	NM_001317993.1,NM_001317995.1,NM_018691.2	deleterious(0)		13/14		hmmpanther:PTHR12842:SF3,hmmpanther:PTHR12842																	MODERATE	1	SNV	1			1										PASS		rs1206151581	.												A	3	1	78	153994957	153994957	C	A	1	0	0	0	0	1	0	0	0	5267	913	32	2		2	FAM114A2	5	153994957	Missense_Mutation	SNP	C	C3N-01415_TP	12620354	153994957	27543302	197	25483											
CCNJL	0	.	GRCh38	chr5	160253571	160253571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagggatgagcctgtactcCccgagagcaggctccctgaa	9	6	14	12	1	0	3	0	2	0	1	2	6	2	5	4	3	3	3	4	3	2	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1115G>T	p.Gly372Val	p.G372V	ENST00000393977	7/7	264	241	23	178	178	0	strelka-varscan-mutect	CCNJL,missense_variant,p.Gly372Val,ENST00000393977,NM_024565.5;CCNJL,missense_variant,p.Gly353Val,ENST00000541762,;CCNJL,missense_variant,p.Gly324Val,ENST00000257536,NM_001308173.1;CCNJL,downstream_gene_variant,,ENST00000519673,;CCNJL,non_coding_transcript_exon_variant,,ENST00000377503,;RP11-34P1.2,upstream_gene_variant,,ENST00000522428,;	A	ENST00000393977	Transcript	missense_variant	1401/3320	1115/1308	372/435	G/V	gGg/gTg		1		-1	CCNJL	HGNC	HGNC:25876	protein_coding	YES	CCDS4350.2	ENSP00000377547	Q8IV13		UPI000020C075	NM_024565.5	deleterious(0)		7/7		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	160253571	160253571	C	A	1	0	0	0	0	1	0	0	0	2628	623	22	2		2	CCNJL	5	160253571	Missense_Mutation	SNP	C	C3N-01415_TP	6258614	160253571	21284688	198	25484											
HMMR	0	.	GRCh38	chr5	163475667	163475667	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaactcctagaagaaaagctGaaagggtttgtattaatagg	17	10	10	4	0	0	3	0	1	0	2	1	3	1	3	1	2	2	3	1	2	9	5	rs766280399		C3N-01415_TP	C3N-01415_NB	G	G																c.1263G>A	p.=	p.L421L	ENST00000393915	11/18	180	168	12	167	167	0	strelka-varscan-mutect	HMMR,synonymous_variant,p.=,ENST00000393915,NM_001142556.1;HMMR,synonymous_variant,p.=,ENST00000358715,NM_012484.2;HMMR,synonymous_variant,p.=,ENST00000353866,NM_012485.2;HMMR,synonymous_variant,p.=,ENST00000432118,NM_001142557.1;HMMR,downstream_gene_variant,,ENST00000520345,;HMMR,downstream_gene_variant,,ENST00000522094,;	A	ENST00000393915	Transcript	synonymous_variant	1406/3102	1263/2178	421/725	L	ctG/ctA	rs766280399,COSM462019	1		1	HMMR	HGNC	HGNC:5012	protein_coding	YES	CCDS47334.1	ENSP00000377492	O75330		UPI00001AE676	NM_001142556.1			11/18		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18956,Low_complexity_(Seg):seg											0,1						LOW	1	SNV	1		0,1	1										PASS		rs766280399	.												A	2	1	78	163475667	163475667	G	A	1	0	0	0	0	0	0	0	1	7133	1304	45	3		3	HMMR	5	163475667	Silent	SNP	G	C3N-01415_TP	3222096	163475667	18062592	199	25485											
TENM2	0	.	GRCh38	chr5	168218348	168218348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cattgccatttctcacactgGggtcctctacatcactgaga	9	12	7	13	0	3	1	2	1	2	1	5	2	4	1	2	2	2	0	2	2	1	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.4457G>T	p.Gly1486Val	p.G1486V	ENST00000518659	23/29	396	282	114	336	336	0	strelka-varscan-mutect	TENM2,missense_variant,p.Gly1365Val,ENST00000519204,;TENM2,missense_variant,p.Gly1486Val,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Gly1247Val,ENST00000520394,;	T	ENST00000518659	Transcript	missense_variant	4496/8550	4457/8325	1486/2774	G/V	gGg/gTg		1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1	deleterious(0)		23/29		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,Gene3D:2.120.10.30,Superfamily_domains:SSF101898,Superfamily_domains:SSF50969																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	78	168218348	168218348	G	T	1	0	0	0	0	1	0	0	0	16172	1232	43	2		2	TENM2	5	168218348	Missense_Mutation	SNP	G	C3N-01415_TP	4742681	168218348	13319911	200	25486											
FGF18	0	.	GRCh38	chr5	171456696	171456696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagaaccagcaggacgTgcatttcatgaagcgctacc	11	6	12	12	3	1	2	1	1	0	1	1	4	1	3	3	2	5	3	3	2	3	2	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.515T>C	p.Val172Ala	p.V172A	ENST00000274625	5/5	676	625	51	437	437	0	strelka-varscan-mutect	FGF18,missense_variant,p.Val172Ala,ENST00000274625,NM_003862.2;	C	ENST00000274625	Transcript	missense_variant	1059/1986	515/624	172/207	V/A	gTg/gCg		1		1	FGF18	HGNC	HGNC:3674	protein_coding	YES	CCDS4378.1	ENSP00000274625	O76093		UPI000003C116	NM_003862.2	tolerated(0.2)		5/5		Gene3D:2.80.10.50,Pfam_domain:PF00167,hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF4,SMART_domains:SM00442,Superfamily_domains:SSF50353																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	171456696	171456696	T	C	1	0	0	0	0	1	0	0	0	5710	1696	59	5		5	FGF18	5	171456696	Missense_Mutation	SNP	T	C3N-01415_TP	3238348	171456696	10081563	201	25487											
NEURL1B	0	.	GRCh38	chr5	172669926	172669926	+	Frame_Shift_Del	DEL	G	G	-																															gctggacggccactcgcgccGggccacacggcgcaacagct																								novel		C3N-01415_TP	C3N-01415_NB	G	G																c.175delG	p.Ala59ProfsTer51	p.A59Pfs*51	ENST00000369800	2/5	146	134	12	69	69	0	varindel-pindel	NEURL1B,frameshift_variant,p.Ala59ProfsTer51,ENST00000369800,NM_001142651.1;NEURL1B,frameshift_variant,p.Ala59ProfsTer51,ENST00000520919,NM_001308178.1;NEURL1B,intron_variant,,ENST00000522853,;	-	ENST00000369800	Transcript	frameshift_variant	314/6424	173/1668	58/555	R/X	cGg/cg		1		1	NEURL1B	HGNC	HGNC:35422	protein_coding	YES	CCDS47342.1	ENSP00000358815	A8MQ27		UPI0000D6E5EA	NM_001142651.1			2/5		PROSITE_profiles:PS51065,hmmpanther:PTHR12429,Pfam_domain:PF07177,SMART_domains:SM00588																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	78	172669926	172669926	G	-	1	0	1	0	1	0	0	0	0	10381	1116	39	0		0	NEURL1B	5	172669926	Frame_Shift_Del	DEL	G	C3N-01415_TP	1213230	172669926	8868333	202	25488											
C5orf47	0	.	GRCh38	chr5	173989404	173989404	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtcaggggcctggggcAggctgtcgccaggagaagcc	6	5	20	10	1	1	1	1	0	0	1	2	2	1	1	3	8	1	2	3	8	1	0	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.141A>T	p.=	p.A47A	ENST00000340147	1/5	96	63	33	59	59	0	strelka-varscan-mutect	C5orf47,synonymous_variant,p.=,ENST00000340147,NM_001144954.1;C5orf47,intron_variant,,ENST00000522195,;	T	ENST00000340147	Transcript	synonymous_variant	246/2522	141/531	47/176	A	gcA/gcT		1		1	C5orf47	HGNC	HGNC:27026	protein_coding	YES	CCDS47343.1	ENSP00000340887	Q569G3		UPI00001603F7	NM_001144954.1			1/5		Pfam_domain:PF15730,hmmpanther:PTHR38655,hmmpanther:PTHR38655:SF1,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	173989404	173989404	A	T	1	0	0	0	0	0	0	0	1	2103	175	7	4		4	C5orf47	5	173989404	Silent	SNP	A	C3N-01415_TP	1319478	173989404	7548855	203	25489											
C5orf47	0	.	GRCh38	chr5	173998194	173998194	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaaagtatgattttcccAtaccattgaatgaagcttcc	14	13	5	9	0	0	3	0	3	0	0	2	3	2	3	3	0	2	2	3	0	7	7	rs553250617		C3N-01415_TP	C3N-01415_NB	A	A																c.367A>T	p.Ile123Leu	p.I123L	ENST00000340147	2/5	347	228	119	233	232	1	strelka-varscan-mutect	C5orf47,missense_variant,p.Ile123Leu,ENST00000340147,NM_001144954.1;C5orf47,intron_variant,,ENST00000522195,;	T	ENST00000340147	Transcript	missense_variant	472/2522	367/531	123/176	I/L	Ata/Tta	rs553250617	1		1	C5orf47	HGNC	HGNC:27026	protein_coding	YES	CCDS47343.1	ENSP00000340887	Q569G3		UPI00001603F7	NM_001144954.1	deleterious(0.02)		2/5		Pfam_domain:PF15730,hmmpanther:PTHR38655,hmmpanther:PTHR38655:SF1																	MODERATE	1	SNV	1			1										PASS		rs553250617	.												T	3	4	78	173998194	173998194	A	T	1	0	0	0	0	1	0	0	0	2103	217	8	4		4	C5orf47	5	173998194	Missense_Mutation	SNP	A	C3N-01415_TP	8790	173998194	7540065	204	25490											
HK3	0	.	GRCh38	chr5	176889495	176889495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgacgctgacgcagacgCggccccggtcttcgtccagc	6	6	12	17	7	1	2	0	1	1	1	4	3	2	2	3	2	1	2	3	2	0	1	rs545419310		C3N-01415_TP	C3N-01415_NB	C	C																c.800G>T	p.Arg267Leu	p.R267L	ENST00000292432	8/19	512	484	28	310	309	1	strelka-varscan-mutect	HK3,missense_variant,p.Arg267Leu,ENST00000292432,NM_002115.2;HK3,intron_variant,,ENST00000509717,;HK3,upstream_gene_variant,,ENST00000506834,;HK3,downstream_gene_variant,,ENST00000504910,;	A	ENST00000292432	Transcript	missense_variant	892/3066	800/2772	267/923	R/L	cGc/cTc	rs545419310	1		-1	HK3	HGNC	HGNC:4925	protein_coding	YES	CCDS4407.1	ENSP00000292432	P52790	A0A024R7R1	UPI000006E237	NM_002115.2	deleterious(0)		8/19		PROSITE_profiles:PS51748,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF1,Gene3D:3.40.367.20,Pfam_domain:PF03727,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		rs545419310	.												A	3	1	78	176889495	176889495	C	A	1	0	0	0	0	1	0	0	0	7081	768	27	1		1	HK3	5	176889495	Missense_Mutation	SNP	C	C3N-01415_TP	2891301	176889495	4648764	205	25491											
ADAMTS2	0	.	GRCh38	chr5	179345232	179345232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcctggcgttcgcgggcgGcggcggcggcggcaggagcg	3	3	23	12	9	0	0	0	0	0	0	1	2	0	1	1	8	2	2	1	8	0	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.97C>A	p.Pro33Thr	p.P33T	ENST00000251582	1/22	68	50	18	32	32	0	strelka-varscan-mutect	ADAMTS2,missense_variant,p.Pro33Thr,ENST00000251582,NM_014244.4;ADAMTS2,missense_variant,p.Pro33Thr,ENST00000274609,NM_021599.2;	T	ENST00000251582	Transcript	missense_variant	199/6754	97/3636	33/1211	P/T	Ccg/Acg		1		-1	ADAMTS2	HGNC	HGNC:218	protein_coding	YES	CCDS4444.1	ENSP00000251582	O95450		UPI00001AE729	NM_014244.4	tolerated_low_confidence(0.13)		1/22		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	179345232	179345232	G	T	1	0	0	0	0	1	0	0	0	309	1203	42	2		2	ADAMTS2	5	179345232	Missense_Mutation	SNP	G	C3N-01415_TP	2455737	179345232	2193027	206	25492											
LTC4S	0	.	GRCh38	chr5	179796014	179796014	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggctacgcgcgctccgcGcagctcaggtgagggccggg	5	4	18	14	6	1	1	1	1	0	0	2	1	2	1	2	4	2	4	2	4	1	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.303G>A	p.=	p.A101A	ENST00000292596	4/5	420	393	27	287	287	0	strelka-varscan-mutect	LTC4S,synonymous_variant,p.=,ENST00000292596,NM_145867.1;LTC4S,synonymous_variant,p.=,ENST00000401985,;MGAT4B,downstream_gene_variant,,ENST00000337755,NM_054013.3;MGAT4B,downstream_gene_variant,,ENST00000292591,NM_014275.4;MGAT4B,downstream_gene_variant,,ENST00000519836,;MGAT4B,downstream_gene_variant,,ENST00000518778,;MGAT4B,downstream_gene_variant,,ENST00000520969,;MGAT4B,downstream_gene_variant,,ENST00000523108,;MGAT4B,downstream_gene_variant,,ENST00000518980,;MGAT4B,downstream_gene_variant,,ENST00000520875,;MGAT4B,downstream_gene_variant,,ENST00000518867,;MIR1229,downstream_gene_variant,,ENST00000408467,;MAML1,non_coding_transcript_exon_variant,,ENST00000503050,;MGAT4B,downstream_gene_variant,,ENST00000521305,;MGAT4B,downstream_gene_variant,,ENST00000523382,;MGAT4B,downstream_gene_variant,,ENST00000522293,;LTC4S,3_prime_UTR_variant,,ENST00000505170,;LTC4S,non_coding_transcript_exon_variant,,ENST00000465572,;LTC4S,non_coding_transcript_exon_variant,,ENST00000466071,;LTC4S,non_coding_transcript_exon_variant,,ENST00000509898,;LTC4S,non_coding_transcript_exon_variant,,ENST00000486713,;LTC4S,non_coding_transcript_exon_variant,,ENST00000510544,;MGAT4B,downstream_gene_variant,,ENST00000520918,;MGAT4B,downstream_gene_variant,,ENST00000520822,;MGAT4B,downstream_gene_variant,,ENST00000521855,;MGAT4B,downstream_gene_variant,,ENST00000522451,;MGAT4B,downstream_gene_variant,,ENST00000523329,;MGAT4B,downstream_gene_variant,,ENST00000518702,;	A	ENST00000292596	Transcript	synonymous_variant	398/666	303/453	101/150	A	gcG/gcA		1		1	LTC4S	HGNC	HGNC:6719	protein_coding	YES	CCDS34316.1	ENSP00000292596	Q16873		UPI0000043F83	NM_145867.1			4/5		hmmpanther:PTHR10250:SF4,hmmpanther:PTHR10250,Gene3D:1.20.120.550,Pfam_domain:PF01124,Superfamily_domains:SSF161084,Prints_domain:PR00488																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	179796014	179796014	G	A	1	0	0	0	0	0	0	0	1	8984	1074	38	1		1	LTC4S	5	179796014	Silent	SNP	G	C3N-01415_TP	450782	179796014	1742245	207	25493											
GFPT2	0	.	GRCh38	chr5	180335921	180335921	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaatgccgaagtgtgtctCaaactccacttttaagtcca	11	11	8	11	1	1	0	1	0	1	0	4	1	3	0	3	1	2	1	3	1	4	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.247G>C	p.Glu83Gln	p.E83Q	ENST00000253778	4/19	142	133	9	89	89	0	strelka-mutect	GFPT2,missense_variant,p.Glu83Gln,ENST00000253778,NM_005110.2;GFPT2,upstream_gene_variant,,ENST00000518906,;GFPT2,downstream_gene_variant,,ENST00000503228,;GFPT2,upstream_gene_variant,,ENST00000518185,;GFPT2,non_coding_transcript_exon_variant,,ENST00000503546,;GFPT2,non_coding_transcript_exon_variant,,ENST00000518158,;	G	ENST00000253778	Transcript	missense_variant	417/3093	247/2049	83/682	E/Q	Gag/Cag		1		-1	GFPT2	HGNC	HGNC:4242	protein_coding	YES	CCDS43411.1	ENSP00000253778	O94808	A0A0S2Z4X9	UPI000014F5AC	NM_005110.2	tolerated(0.45)		4/19		Gene3D:3.60.20.10,Pfam_domain:PF13522,PROSITE_profiles:PS51278,hmmpanther:PTHR10937,hmmpanther:PTHR10937:SF10,Superfamily_domains:SSF56235																	MODERATE	1	SNV	1			1										PASS		rs902531269	.												G	3	3	78	180335921	180335921	C	G	1	0	0	0	0	1	0	0	0	6220	835	29	4		4	GFPT2	5	180335921	Missense_Mutation	SNP	C	C3N-01415_TP	539907	180335921	1202338	208	25494											
BTNL9	0	.	GRCh38	chr5	181059653	181059653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttcttcaacgtgtccGacggctcccacatcttcacc	6	12	6	17	3	4	0	2	0	2	0	7	1	7	0	4	1	1	1	4	1	1	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1399G>T	p.Asp467Tyr	p.D467Y	ENST00000327705	11/11	626	543	83	442	441	1	strelka-varscan-mutect	BTNL9,missense_variant,p.Asp467Tyr,ENST00000327705,NM_152547.4;BTNL9,downstream_gene_variant,,ENST00000376841,NM_001308245.1;BTNL9,downstream_gene_variant,,ENST00000491209,;BTNL9,downstream_gene_variant,,ENST00000512570,;BTNL9,downstream_gene_variant,,ENST00000506782,;BTNL9,downstream_gene_variant,,ENST00000511056,;	T	ENST00000327705	Transcript	missense_variant	1630/3500	1399/1608	467/535	D/Y	Gac/Tac		1		1	BTNL9	HGNC	HGNC:24176	protein_coding	YES	CCDS4460.2	ENSP00000330200	Q6UXG8		UPI000004C620	NM_152547.4	deleterious(0)		11/11		PROSITE_profiles:PS50188,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF62,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs1295595400	.												T	3	4	78	181059653	181059653	G	T	1	0	0	0	0	1	0	0	0	1744	1058	37	1		1	BTNL9	5	181059653	Missense_Mutation	SNP	G	C3N-01415_TP	723732	181059653	478606	209	25495											
IRF4	0	.	GRCh38	chr6	395910	395910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacccctacaccatgacaaCgccttacccttcgctcccag	9	7	4	21	2	0	1	0	1	0	0	2	1	1	1	7	0	3	1	7	0	3	3	rs755460615		C3N-01415_TP	C3N-01415_NB	C	C																c.467C>T	p.Thr156Met	p.T156M	ENST00000380956	4/9	377	295	82	352	351	1	strelka-varscan-mutect	IRF4,missense_variant,p.Thr156Met,ENST00000380956,NM_002460.3,NM_001195286.1;IRF4,non_coding_transcript_exon_variant,,ENST00000495137,;IRF4,non_coding_transcript_exon_variant,,ENST00000468485,;IRF4,non_coding_transcript_exon_variant,,ENST00000469834,;IRF4,missense_variant,p.Thr156Met,ENST00000493114,;	T	ENST00000380956	Transcript	missense_variant	593/5331	467/1356	156/451	T/M	aCg/aTg	rs755460615	1		1	IRF4	HGNC	HGNC:6119	protein_coding	YES	CCDS4469.1	ENSP00000370343	Q15306		UPI000012D88B	NM_002460.3,NM_001195286.1	tolerated(0.08)		4/9		hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF6																	MODERATE	1	SNV	1			1										PASS		rs755460615	.												T	3	4	78	395910	395910	C	T	1	0	0	0	0	1	0	0	0	7739	536	19	1		1	IRF4	6	395910	Missense_Mutation	SNP	C	C3N-01415_TP		395910	170410069	210	25496											
MYLK4	0	.	GRCh38	chr6	2685488	2685488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccacaggctgtaccttgtCcttcatgcctctggtcttga	5	14	8	14	0	3	1	1	1	2	0	5	1	5	1	4	2	2	2	4	2	1	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.430G>T	p.Asp144Tyr	p.D144Y	ENST00000274643	5/13	226	201	25	236	236	0	strelka-varscan-mutect	MYLK4,missense_variant,p.Asp144Tyr,ENST00000274643,NM_001012418.3;	A	ENST00000274643	Transcript	missense_variant	773/5806	430/1167	144/388	D/Y	Gac/Tac		1		-1	MYLK4	HGNC	HGNC:27972	protein_coding	YES	CCDS34330.1	ENSP00000274643	Q86YV6		UPI00000498AE	NM_001012418.3	deleterious(0)		5/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF119,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	2685488	2685488	C	A	1	0	0	0	0	1	0	0	0	10059	869	30	2		2	MYLK4	6	2685488	Missense_Mutation	SNP	C	C3N-01415_TP	2289578	2685488	168120491	211	25497											
SLC22A23	0	.	GRCh38	chr6	3283926	3283926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgggaggcaaacatgccCacgatggaaaacgcgatgga	14	4	14	9	3	0	0	0	0	0	0	0	5	0	3	1	4	3	2	1	4	3	0	rs566206184		C3N-01415_TP	C3N-01415_NB	C	C																c.1629G>A	p.=	p.V543V	ENST00000406686	9/10	143	126	17	166	166	0	strelka-varscan-mutect	SLC22A23,synonymous_variant,p.=,ENST00000436008,;SLC22A23,synonymous_variant,p.=,ENST00000406686,NM_015482.1;SLC22A23,synonymous_variant,p.=,ENST00000380302,NM_001286455.1;SLC22A23,synonymous_variant,p.=,ENST00000490273,NM_021945.6;SLC22A23,synonymous_variant,p.=,ENST00000485307,;SLC22A23,synonymous_variant,p.=,ENST00000467177,;PSMG4,intron_variant,,ENST00000454610,;PSMG4,intron_variant,,ENST00000451246,;SLC22A23,downstream_gene_variant,,ENST00000467144,;SLC22A23,3_prime_UTR_variant,,ENST00000497691,;SLC22A23,non_coding_transcript_exon_variant,,ENST00000482874,;	T	ENST00000406686	Transcript	synonymous_variant	1629/5658	1629/2061	543/686	V	gtG/gtA	rs566206184	1		-1	SLC22A23	HGNC	HGNC:21106	protein_coding	YES	CCDS47363.1	ENSP00000385028	A1A5C7		UPI0000EE5391	NM_015482.1			9/10		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF192,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	LOW	1	SNV	5			1										PASS		rs566206184	.												T	2	4	78	3283926	3283926	C	T	1	0	0	0	0	0	0	0	1	14717	581	21	3		3	SLC22A23	6	3283926	Silent	SNP	C	C3N-01415_TP	598438	3283926	167522053	212	25498											
FAM217A	0	.	GRCh38	chr6	4074662	4074662	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaattccagtgagataagttCtaaaacaatatttgttttag	16	15	6	4	0	1	1	0	1	1	1	2	2	2	1	1	0	1	2	1	0	7	8			C3N-01415_TP	C3N-01415_NB	C	C																c.61-1G>C		p.X21_splice	ENST00000274673		181	160	21	201	201	0	strelka-varscan-mutect	FAM217A,splice_acceptor_variant,,ENST00000274673,NM_173563.2;FAM217A,splice_acceptor_variant,,ENST00000492651,;FAM217A,intron_variant,,ENST00000498677,;C6orf201,upstream_gene_variant,,ENST00000380175,NM_001085401.2;FAM217A,splice_acceptor_variant,,ENST00000478714,;FAM217A,intron_variant,,ENST00000380188,;FAM217A,intron_variant,,ENST00000469157,;C6orf201,upstream_gene_variant,,ENST00000427996,;	G	ENST00000274673	Transcript	splice_acceptor_variant	-/2265	61/1527	21/508			COSM1079140	1		-1	FAM217A	HGNC	HGNC:21362	protein_coding	YES	CCDS4489.1	ENSP00000274673	Q8IXS0		UPI0000160AA7	NM_173563.2				2/6												1						HIGH	1	SNV	1		1	1										PASS		.	.												G	5	3	78	4074662	4074662	C	G	1	0	0	0	0	0	0	1	0	5406	927	32	4		4	FAM217A	6	4074662	Splice_Site	SNP	C	C3N-01415_TP	790736	4074662	166731317	213	25499											
DSP	0	.	GRCh38	chr6	7577804	7577804	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagctccagctggcctcatAcacctcaggactggaaactc	10	8	9	14	0	2	1	2	1	0	0	4	3	3	3	3	3	4	2	3	3	2	1	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.2903A>G	p.Tyr968Cys	p.Y968C	ENST00000379802	21/24	440	399	41	452	452	0	strelka-varscan-mutect	DSP,missense_variant,p.Tyr968Cys,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Tyr968Cys,ENST00000418664,NM_001008844.1;	G	ENST00000379802	Transcript	missense_variant	3244/9796	2903/8616	968/2871	Y/C	tAc/tGc		1		1	DSP	HGNC	HGNC:3052	protein_coding	YES	CCDS4501.1	ENSP00000369129	P15924		UPI000013C67F	NM_004415.2	deleterious(0)		21/24		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF234,SMART_domains:SM00150																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	7577804	7577804	A	G	1	0	0	0	0	1	0	0	0	4602	391	14	5		5	DSP	6	7577804	Missense_Mutation	SNP	A	C3N-01415_TP	3503142	7577804	163228175	214	25500											
SLC17A3	0	.	GRCh38	chr6	25861960	25861960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccactgggagccattgtcaGtatgccaccatagccaacag	11	8	9	13	0	1	0	1	0	0	0	2	1	2	1	5	1	4	1	5	1	3	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.373C>A	p.Leu125Met	p.L125M	ENST00000397060	4/13	227	200	27	218	218	0	strelka-varscan-mutect	SLC17A3,missense_variant,p.Leu125Met,ENST00000397060,NM_001098486.1;SLC17A3,intron_variant,,ENST00000360657,;SLC17A3,intron_variant,,ENST00000361703,NM_006632.3;SLC17A3,non_coding_transcript_exon_variant,,ENST00000308453,;SLC17A3,intron_variant,,ENST00000509714,;SLC17A3,intron_variant,,ENST00000506105,;SLC17A3,intron_variant,,ENST00000503922,;SLC17A3,intron_variant,,ENST00000449356,;	T	ENST00000397060	Transcript	missense_variant	483/2052	373/1497	125/498	L/M	Ctg/Atg		1		-1	SLC17A3	HGNC	HGNC:10931	protein_coding	YES	CCDS47385.1	ENSP00000380250	O00476		UPI0001536779	NM_001098486.1	deleterious(0.02)		4/13		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF134,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		rs1400780544	.												T	3	4	78	25861960	25861960	G	T	1	0	0	0	0	1	0	0	0	14683	1020	36	2		2	SLC17A3	6	25861960	Missense_Mutation	SNP	G	C3N-01415_TP	18284156	25861960	144944019	215	25501											
HIST1H2AE	0	.	GRCh38	chr6	26217333	26217333	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccgtattgctgcctaagaAgacggagagccaccataagg	12	6	13	10	2	0	3	0	0	0	3	0	4	0	3	4	3	3	2	4	3	4	4	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.359A>G	p.Lys120Arg	p.K120R	ENST00000303910	1/1	310	290	20	283	283	0	strelka-varscan-mutect	HIST1H2AE,missense_variant,p.Lys120Arg,ENST00000303910,NM_021052.2;HIST1H2BG,upstream_gene_variant,,ENST00000541790,NM_003518.3;RP1-34B20.19,upstream_gene_variant,,ENST00000611953,;	G	ENST00000303910	Transcript	missense_variant	359/509	359/393	120/130	K/R	aAg/aGg		1		1	HIST1H2AE	HGNC	HGNC:4724	protein_coding	YES	CCDS4595.1	ENSP00000303373	P04908	Q08AJ9	UPI00000007AF	NM_021052.2	deleterious_low_confidence(0.02)		1/1		hmmpanther:PTHR23430,Pfam_domain:PF16211,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	78	26217333	26217333	A	G	1	0	0	0	0	1	0	0	0	7020	72	3	5		5	HIST1H2AE	6	26217333	Missense_Mutation	SNP	A	C3N-01415_TP	355373	26217333	144588646	216	25502											
HIST1H3I	0	.	GRCh38	chr6	27872163	27872163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttctggtagcggcggatCtcgcgcagggccacggtgcc	5	7	16	13	5	2	0	0	0	2	0	3	2	2	1	2	5	2	2	2	5	1	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.153G>T	p.Glu51Asp	p.E51D	ENST00000616365	1/1	278	251	27	317	317	0	strelka-varscan-mutect	HIST1H3I,missense_variant,p.Glu51Asp,ENST00000616365,NM_003533.2;HIST1H1B,upstream_gene_variant,,ENST00000331442,NM_005322.2;HIST1H4L,downstream_gene_variant,,ENST00000618305,NM_003546.2;	A	ENST00000616365	Transcript	missense_variant	153/411	153/411	51/136	E/D	gaG/gaT		1		-1	HIST1H3I	HGNC	HGNC:4771	protein_coding	YES	CCDS4636.1	ENSP00000483283	P68431		UPI00000003C7	NM_003533.2	deleterious_low_confidence(0.03)		1/1		hmmpanther:PTHR11426,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	78	27872163	27872163	C	A	1	0	0	0	0	1	0	0	0	7051	912	32	2		2	HIST1H3I	6	27872163	Missense_Mutation	SNP	C	C3N-01415_TP	1654830	27872163	142933816	217	25503											
ZBED9	0	.	GRCh38	chr6	28573320	28573320	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctttgctgcagattcacCcaacatttccaagcaaactt	11	13	4	13	0	2	1	1	0	1	1	3	1	3	1	2	0	5	3	2	0	3	5	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.2569G>T	p.Gly857Cys	p.G857C	ENST00000452236	4/4	680	514	166	688	688	0	strelka-varscan-mutect	ZBED9,missense_variant,p.Gly857Cys,ENST00000452236,NM_052923.1;ZBED9,downstream_gene_variant,,ENST00000530247,;	A	ENST00000452236	Transcript	missense_variant	3187/4877	2569/3978	857/1325	G/C	Ggt/Tgt		1		-1	ZBED9	HGNC	HGNC:13851	protein_coding	YES	CCDS34355.1	ENSP00000395259	Q6R2W3		UPI00001618B7	NM_052923.1	deleterious(0.01)		4/4		hmmpanther:PTHR11697:SF108,hmmpanther:PTHR11697																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	28573320	28573320	C	A	1	0	0	0	0	1	0	0	0	18086	623	22	2		2	ZBED9	6	28573320	Missense_Mutation	SNP	C	C3N-01415_TP	701157	28573320	142232659	218	25504											
OR10C1	0	.	GRCh38	chr6	29440133	29440133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctacctgctgaccgtggcaGgcaatttcctcattgtggtg	6	13	11	11	1	2	1	1	1	1	0	3	1	3	1	3	3	2	3	3	3	2	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.118G>T	p.Gly40Cys	p.G40C	ENST00000444197	1/1	468	396	72	422	422	0	strelka-varscan-mutect	OR10C1,missense_variant,p.Gly40Cys,ENST00000444197,NM_013941.3;OR10C1,missense_variant,p.Gly42Cys,ENST00000622521,;OR11A1,intron_variant,,ENST00000377149,;	T	ENST00000444197	Transcript	missense_variant	828/1649	118/939	40/312	G/C	Ggc/Tgc		1		1	OR10C1	HGNC	HGNC:8165	protein_coding	YES	CCDS34364.1	ENSP00000419119	Q96KK4	A0A126GV80	UPI000014068E	NM_013941.3	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF191,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	78	29440133	29440133	G	T	1	0	0	0	0	1	0	0	0	10973	1000	35	2		2	OR10C1	6	29440133	Missense_Mutation	SNP	G	C3N-01415_TP	866813	29440133	141365846	219	25505											
OR2H2	0	.	GRCh38	chr6	29588053	29588053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttcctacctcctaaccCtagtgggcaacacactcatc	10	10	4	17	0	2	0	2	0	0	0	5	0	4	0	4	1	3	1	4	1	4	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.109C>A	p.Leu37Ile	p.L37I	ENST00000383640	1/1	302	283	19	311	311	0	strelka-varscan-mutect	OR2H2,missense_variant,p.Leu37Ile,ENST00000383640,NM_007160.3;GABBR1,intron_variant,,ENST00000355973,;	A	ENST00000383640	Transcript	missense_variant	599/1584	109/939	37/312	L/I	Cta/Ata		1		1	OR2H2	HGNC	HGNC:8253	protein_coding	YES	CCDS34365.1	ENSP00000373136	O95918		UPI00001404DC	NM_007160.3	tolerated(0.27)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF199,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	78	29588053	29588053	C	A	1	0	0	0	0	1	0	0	0	11080	680	24	2		2	OR2H2	6	29588053	Missense_Mutation	SNP	C	C3N-01415_TP	147920	29588053	141217926	220	25506											
TRIM26	0	.	GRCh38	chr6	30198721	30198721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtggggcctgtgctccCgggactcccggcacatcacg	4	7	14	16	4	1	0	1	0	0	0	3	1	3	1	4	4	1	2	4	4	0	0			C3N-01415_TP	C3N-01415_NB	C	C																c.383G>T	p.Arg128Leu	p.R128L	ENST00000454678	4/10	165	152	13	168	168	0	strelka-varscan-mutect	TRIM26,missense_variant,p.Arg128Leu,ENST00000454678,NM_003449.4;TRIM26,missense_variant,p.Arg128Leu,ENST00000453195,NM_001242783.1;TRIM26,missense_variant,p.Arg128Leu,ENST00000437089,;TRIM26,missense_variant,p.Arg128Leu,ENST00000416596,;TRIM26,missense_variant,p.Arg128Leu,ENST00000418026,;TRIM26,downstream_gene_variant,,ENST00000434785,;TRIM26,downstream_gene_variant,,ENST00000487829,;	A	ENST00000454678	Transcript	missense_variant	820/3478	383/1620	128/539	R/L	cGg/cTg	COSM1739215,COSM1739216	1		-1	TRIM26	HGNC	HGNC:12962	protein_coding	YES	CCDS4678.1	ENSP00000410446	Q12899	A0A024RCP3	UPI0000001C20	NM_003449.4	tolerated(0.2)		4/10		PROSITE_profiles:PS50119,hmmpanther:PTHR24103:SF369,hmmpanther:PTHR24103,Gene3D:1freA00,Pfam_domain:PF00643,SMART_domains:SM00336,Superfamily_domains:SSF57845											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	78	30198721	30198721	C	A	1	0	0	0	0	1	0	0	0	16989	652	23	1		1	TRIM26	6	30198721	Missense_Mutation	SNP	C	C3N-01415_TP	610668	30198721	140607258	221	25507											
TNXB	0	.	GRCh38	chr6	32088931	32088931	+	Missense_Mutation	SNP	C	C	A																															ccagcctcaccctctggttgCcggcactgacgtaggacacc																								rs201647307		C3N-01415_TP	C3N-01415_NB	C	C																c.2633G>T	p.Gly878Val	p.G878V	ENST00000375244	6/44	74	68	6	31	31	0	strelka-mutect	TNXB,missense_variant,p.Gly878Val,ENST00000375244,NM_019105.6;TNXB,missense_variant,p.Gly830Val,ENST00000613214,;TNXB,downstream_gene_variant,,ENST00000479795,;	A	ENST00000375244	Transcript	missense_variant	2835/13132	2633/12735	878/4244	G/V	gGc/gTc	rs201647307	1		-1	TNXB	HGNC	HGNC:11976	protein_coding			ENSP00000364393	P22105	E7EPZ9	UPI0001B798E9	NM_019105.6	deleterious(0.03)		6/44		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		rs201647307	.												A	3	1	78	32088931	32088931	C	A	1	0	0	0	0	1	0	0	0	16820	739	26	2		2	TNXB	6	32088931	Missense_Mutation	SNP	C	C3N-01415_TP	1890210	32088931	138717048	222	25508	540	2									
TNXB	0	.	GRCh38	chr6	32088932	32088932	+	Missense_Mutation	SNP	C	C	A																															cagcctcaccctctggttgcCggcactgacgtaggacacca																								rs570126253		C3N-01415_TP	C3N-01415_NB	C	C																c.2632G>T	p.Gly878Cys	p.G878C	ENST00000375244	6/44	76	70	6	31	31	0	strelka-mutect	TNXB,missense_variant,p.Gly878Cys,ENST00000375244,NM_019105.6;TNXB,missense_variant,p.Gly830Cys,ENST00000613214,;TNXB,downstream_gene_variant,,ENST00000479795,;	A	ENST00000375244	Transcript	missense_variant	2834/13132	2632/12735	878/4244	G/C	Ggc/Tgc	rs570126253	1		-1	TNXB	HGNC	HGNC:11976	protein_coding			ENSP00000364393	P22105	E7EPZ9	UPI0001B798E9	NM_019105.6	deleterious(0)		6/44		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		rs570126253	.												A	3	1	78	32088932	32088932	C	A	1	0	0	0	0	1	0	0	0	16820	652	23	1		1	TNXB	6	32088932	Missense_Mutation	SNP	C	C3N-01415_TP	1	32088932	138717047	223	25509	540	2									
ITPR3	0	.	GRCh38	chr6	33688757	33688757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatcattgccttcttctacCcttacatggagggcgcgtcc	6	13	8	14	2	4	0	2	0	2	0	5	1	5	1	3	2	3	0	3	2	2	5	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.6670C>T	p.Pro2224Ser	p.P2224S	ENST00000374316	50/59	351	325	26	345	345	0	strelka-varscan-mutect	ITPR3,missense_variant,p.Pro2224Ser,ENST00000374316,;ITPR3,missense_variant,p.Pro2224Ser,ENST00000605930,NM_002224.3;	T	ENST00000374316	Transcript	missense_variant	7730/9870	6670/8016	2224/2671	P/S	Cct/Tct		1		1	ITPR3	HGNC	HGNC:6182	protein_coding	YES	CCDS4783.1	ENSP00000363435	Q14573		UPI000013CB74		deleterious(0)		50/59		hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715																	MODERATE	1	SNV	5			1										PASS		rs1426232454	.												T	3	4	78	33688757	33688757	C	T	1	0	0	0	0	1	0	0	0	7828	623	22	3		3	ITPR3	6	33688757	Missense_Mutation	SNP	C	C3N-01415_TP	1599825	33688757	137117222	224	25510											
PACSIN1	0	.	GRCh38	chr6	34528719	34528719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtgagcgagctgcaccagGaggtgaagaacaatctgctg	12	6	15	8	1	1	3	0	2	1	1	1	5	1	4	1	3	5	3	1	3	3	0			C3N-01415_TP	C3N-01415_NB	G	G																c.298G>A	p.Glu100Lys	p.E100K	ENST00000620693	4/10	543	388	155	496	496	0	strelka-varscan-mutect	PACSIN1,missense_variant,p.Glu100Lys,ENST00000620693,NM_020804.4;PACSIN1,missense_variant,p.Glu100Lys,ENST00000538621,NM_001199583.2;PACSIN1,missense_variant,p.Glu100Lys,ENST00000244458,;PACSIN1,missense_variant,p.Glu58Lys,ENST00000374043,;PACSIN1,non_coding_transcript_exon_variant,,ENST00000486120,;PACSIN1,downstream_gene_variant,,ENST00000487760,;PACSIN1,downstream_gene_variant,,ENST00000493633,;	A	ENST00000620693	Transcript	missense_variant	571/4299	298/1335	100/444	E/K	Gag/Aag	COSM1219104	1		1	PACSIN1	HGNC	HGNC:8570	protein_coding	YES	CCDS4793.1	ENSP00000484060	Q9BY11	Q5TZC3	UPI000000D983	NM_020804.4	tolerated(0.18)		4/10		PROSITE_profiles:PS51741,hmmpanther:PTHR23065:SF16,hmmpanther:PTHR23065,SMART_domains:SM00055,Superfamily_domains:SSF103657											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	78	34528719	34528719	G	A	1	0	0	0	0	1	0	0	0	11452	1175	41	3		3	PACSIN1	6	34528719	Missense_Mutation	SNP	G	C3N-01415_TP	839962	34528719	136277260	225	25511											
SNRPC	0	.	GRCh38	chr6	34767924	34767924	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagcggctgcatttcaacaAggaaagatacctcctactcc	14	8	7	12	1	1	1	1	0	0	1	3	2	3	2	3	2	5	2	3	2	6	3	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.177A>T	p.Gln59His	p.Q59H	ENST00000244520	4/6	228	165	63	233	233	0	strelka-varscan-mutect	SNRPC,missense_variant,p.Gln80His,ENST00000374017,;SNRPC,missense_variant,p.Gln59His,ENST00000244520,NM_003093.2;SNRPC,missense_variant,p.Gln18His,ENST00000374018,;SNRPC,non_coding_transcript_exon_variant,,ENST00000474635,;	T	ENST00000244520	Transcript	missense_variant	315/842	177/480	59/159	Q/H	caA/caT		1		1	SNRPC	HGNC	HGNC:11157	protein_coding	YES	CCDS34436.1	ENSP00000244520	P09234	Q5TAL4	UPI00001352E7	NM_003093.2	tolerated(0.05)		4/6		HAMAP:MF_03153,PIRSF_domain:PIRSF037969,hmmpanther:PTHR31148,hmmpanther:PTHR31148:SF3,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	34767924	34767924	A	T	1	0	0	0	0	1	0	0	0	15183	69	3	4		4	SNRPC	6	34767924	Missense_Mutation	SNP	A	C3N-01415_TP	239205	34767924	136038055	226	25512											
PPARD	0	.	GRCh38	chr6	35424725	35424725	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtcaagttcaacgccctgGaacttgatgacagtgacctg	10	10	10	11	1	2	3	2	3	0	0	2	4	2	4	2	1	2	1	2	1	3	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1024G>T	p.Glu342Ter	p.E342*	ENST00000311565	8/9	254	215	39	251	250	1	strelka-varscan-mutect	PPARD,stop_gained,p.Glu342Ter,ENST00000311565,NM_001171818.1;PPARD,stop_gained,p.Glu342Ter,ENST00000360694,NM_006238.4;PPARD,stop_gained,p.Glu303Ter,ENST00000448077,NM_001171819.1;PPARD,stop_gained,p.Glu244Ter,ENST00000418635,NM_001171820.1;PPARD,stop_gained,p.Glu342Ter,ENST00000337400,NM_177435.2;	T	ENST00000311565	Transcript	stop_gained	1373/3774	1024/1326	342/441	E/*	Gaa/Taa		1		1	PPARD	HGNC	HGNC:9235	protein_coding	YES	CCDS4803.1	ENSP00000310928	Q03181	A0A024RCW6	UPI000004EF98	NM_001171818.1			8/9		Gene3D:1.10.565.10,Pfam_domain:PF00104,Prints_domain:PR00398,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF15,SMART_domains:SM00430,Superfamily_domains:SSF48508																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	78	35424725	35424725	G	T	1	0	0	0	0	0	1	0	0	12407	1175	41	2		2	PPARD	6	35424725	Nonsense_Mutation	SNP	G	C3N-01415_TP	656801	35424725	135381254	227	25513											
CPNE5	0	.	GRCh38	chr6	36794626	36794626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatgggtttgcccgtcctgGaattcaggctgaatgcgcct	6	11	13	11	2	1	1	1	1	0	0	2	2	2	2	3	3	2	3	3	3	2	2	rs142540878		C3N-01415_TP	C3N-01415_NB	G	G																c.428C>A	p.Ser143Tyr	p.S143Y	ENST00000244751	7/21	396	366	30	309	309	0	strelka-varscan-mutect	CPNE5,missense_variant,p.Ser143Tyr,ENST00000244751,NM_020939.1;CPNE5,missense_variant,p.Ser127Tyr,ENST00000633136,;CPNE5,missense_variant,p.Ser143Tyr,ENST00000633280,;	T	ENST00000244751	Transcript	missense_variant	1053/3897	428/1782	143/593	S/Y	tCc/tAc	rs142540878	1		-1	CPNE5	HGNC	HGNC:2318	protein_coding	YES	CCDS4825.1	ENSP00000244751	Q9HCH3		UPI0000127C15	NM_020939.1	tolerated(0.17)		7/21																			MODERATE	1	SNV	1			1										PASS		rs142540878	.												T	3	4	78	36794626	36794626	G	T	1	0	0	0	0	1	0	0	0	3610	1174	41	2		2	CPNE5	6	36794626	Missense_Mutation	SNP	G	C3N-01415_TP	1369901	36794626	134011353	228	25514											
DNAH8	0	.	GRCh38	chr6	38882988	38882988	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggaatattcatcaatttTggttccaaatgttgacaata	13	15	6	7	1	2	1	2	1	0	0	4	2	4	2	2	2	0	2	2	2	6	7	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.7937T>C	p.Leu2646Ser	p.L2646S	ENST00000327475	54/93	188	157	31	190	190	0	strelka-varscan-mutect	DNAH8,missense_variant,p.Leu2646Ser,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Leu2429Ser,ENST00000359357,;DNAH8,missense_variant,p.Leu2646Ser,ENST00000449981,;	C	ENST00000327475	Transcript	missense_variant	8046/14360	7937/14124	2646/4707	L/S	tTg/tCg		1		1	DNAH8	HGNC	HGNC:2952	protein_coding	YES	CCDS75447.1	ENSP00000333363		A0A075B6F3	UPI000179A984	NM_001206927.1	deleterious(0)		54/93		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF280,Pfam_domain:PF12775																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	78	38882988	38882988	T	C	1	0	0	0	0	1	0	0	0	4422	1821	63	5		5	DNAH8	6	38882988	Missense_Mutation	SNP	T	C3N-01415_TP	2088362	38882988	131922991	229	25515											
TREM1	0	.	GRCh38	chr6	41281135	41281135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggtagaattctcattggagCcaggggtccctgaaaaacct	11	9	12	9	0	1	2	1	1	1	1	3	3	2	3	3	4	2	1	3	4	4	3	rs372884401		C3N-01415_TP	C3N-01415_NB	C	C																c.425G>T	p.Gly142Val	p.G142V	ENST00000244709	3/4	223	170	53	223	223	0	strelka-varscan-mutect	TREM1,missense_variant,p.Gly142Val,ENST00000591620,NM_001242589.1;TREM1,missense_variant,p.Gly142Val,ENST00000244709,NM_018643.3;TREM1,missense_variant,p.Gly142Val,ENST00000589614,;TREM1,intron_variant,,ENST00000334475,NM_001242590.1;TREM1,non_coding_transcript_exon_variant,,ENST00000589882,;TREM1,non_coding_transcript_exon_variant,,ENST00000589695,;TREM1,downstream_gene_variant,,ENST00000586287,;	A	ENST00000244709	Transcript	missense_variant	489/1690	425/705	142/234	G/V	gGc/gTc	rs372884401	1		-1	TREM1	HGNC	HGNC:17760	protein_coding	YES	CCDS4854.1	ENSP00000244709	Q9NP99	Q38L15	UPI0000047FA9	NM_018643.3	tolerated(0.48)		3/4		hmmpanther:PTHR19357,hmmpanther:PTHR19357:SF0																	MODERATE	1	SNV	1			1										PASS		rs372884401	.												A	3	1	78	41281135	41281135	C	A	1	0	0	0	0	1	0	0	0	16959	739	26	2		2	TREM1	6	41281135	Missense_Mutation	SNP	C	C3N-01415_TP	2398147	41281135	129524844	230	25516											
PEX6	0	.	GRCh38	chr6	42966431	42966431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccacccacatcatgcCaggacactgaggggatctag	11	5	11	14	0	2	1	1	1	1	0	2	3	2	3	3	3	2	1	3	3	1	1	rs774799323		C3N-01415_TP	C3N-01415_NB	C	C																c.2111G>T	p.Trp704Leu	p.W704L	ENST00000304611	11/17	747	562	185	798	795	3	strelka-varscan-mutect	PEX6,missense_variant,p.Trp704Leu,ENST00000304611,NM_000287.3;PEX6,intron_variant,,ENST00000244546,;GNMT,downstream_gene_variant,,ENST00000372808,NM_018960.4;	A	ENST00000304611	Transcript	missense_variant	2181/3478	2111/2943	704/980	W/L	tGg/tTg	rs774799323	1		-1	PEX6	HGNC	HGNC:8859	protein_coding	YES	CCDS4877.1	ENSP00000303511	Q13608	A0A024RD09	UPI00001316EC	NM_000287.3	deleterious(0)		11/17		Gene3D:3.40.50.300,hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF9,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs774799323	.												A	3	1	78	42966431	42966431	C	A	1	0	0	0	0	1	0	0	0	11840	595	21	2		2	PEX6	6	42966431	Missense_Mutation	SNP	C	C3N-01415_TP	1685296	42966431	127839548	231	25517											
KLC4	0	.	GRCh38	chr6	43063102	43063102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaaagaagcacctggaGttcctggggcagctgcggca	11	5	16	9	1	0	1	0	0	0	1	1	4	1	3	2	5	3	5	2	5	3	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.498G>A	p.=	p.E166E	ENST00000259708	3/16	177	144	33	188	188	0	strelka-varscan-mutect	KLC4,synonymous_variant,p.=,ENST00000394056,NM_201522.2;KLC4,synonymous_variant,p.=,ENST00000259708,NM_201523.2;KLC4,synonymous_variant,p.=,ENST00000479388,NM_001289034.1;KLC4,synonymous_variant,p.=,ENST00000347162,NM_201521.2;KLC4,synonymous_variant,p.=,ENST00000458460,NM_138343.3;KLC4,synonymous_variant,p.=,ENST00000470728,;KLC4,synonymous_variant,p.=,ENST00000479632,;KLC4,intron_variant,,ENST00000453940,NM_001289035.1;MRPL2,upstream_gene_variant,,ENST00000388752,NM_015950.4;MRPL2,upstream_gene_variant,,ENST00000487429,;MRPL2,upstream_gene_variant,,ENST00000230413,NM_001300848.1;MRPL2,upstream_gene_variant,,ENST00000468957,;KLC4,downstream_gene_variant,,ENST00000472792,;MRPL2,upstream_gene_variant,,ENST00000489623,;KLC4,downstream_gene_variant,,ENST00000460283,;KLC4,downstream_gene_variant,,ENST00000481888,;KLC4,3_prime_UTR_variant,,ENST00000467906,;KLC4,3_prime_UTR_variant,,ENST00000481499,;KLC4,non_coding_transcript_exon_variant,,ENST00000472172,;MRPL2,upstream_gene_variant,,ENST00000491898,;KLC4,upstream_gene_variant,,ENST00000469987,;MRPL2,upstream_gene_variant,,ENST00000470667,;MRPL2,upstream_gene_variant,,ENST00000480286,;KLC4,upstream_gene_variant,,ENST00000468114,;	A	ENST00000259708	Transcript	synonymous_variant	851/2688	498/1914	166/637	E	gaG/gaA		1		1	KLC4	HGNC	HGNC:21624	protein_coding	YES	CCDS4882.1	ENSP00000259708	Q9NSK0		UPI000023C3DA	NM_201523.2			3/16		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19959:SF139,hmmpanther:PTHR19959																	LOW		SNV	2			1										PASS		.	.												A	2	1	78	43063102	43063102	G	A	1	0	0	0	0	0	0	0	1	8201	1020	36	3		3	KLC4	6	43063102	Silent	SNP	G	C3N-01415_TP	96671	43063102	127742877	232	25518											
TFAP2D	0	.	GRCh38	chr6	50772825	50772825	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcggaaaacttcagaGgctgccgtgaaagagggcaa	12	5	13	11	2	1	3	1	1	0	2	1	4	1	4	3	3	3	2	3	3	4	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1320G>A	p.=	p.E440E	ENST00000008391	8/8	387	346	41	353	353	0	strelka-varscan-mutect	TFAP2D,synonymous_variant,p.=,ENST00000008391,NM_172238.3;	A	ENST00000008391	Transcript	synonymous_variant	1548/1711	1320/1359	440/452	E	gaG/gaA		1		1	TFAP2D	HGNC	HGNC:15581	protein_coding	YES	CCDS4933.1	ENSP00000008391	Q7Z6R9		UPI00001A3A89	NM_172238.3			8/8		hmmpanther:PTHR10812:SF5,hmmpanther:PTHR10812																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	50772825	50772825	G	A	1	0	0	0	0	0	0	0	1	16223	991	35	3		3	TFAP2D	6	50772825	Silent	SNP	G	C3N-01415_TP	7709723	50772825	120033154	233	25519											
PKHD1	0	.	GRCh38	chr6	51887247	51887247	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccacacactctgttccccTacagaaattaagaagagtta	15	9	5	12	0	1	3	0	0	1	3	2	3	2	3	3	0	1	2	3	0	5	4	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.6997-2A>T		p.X2333_splice	ENST00000371117		556	425	131	575	575	0	strelka-varscan-mutect	PKHD1,splice_acceptor_variant,,ENST00000371117,NM_138694.3;PKHD1,splice_acceptor_variant,,ENST00000340994,NM_170724.2;	A	ENST00000371117	Transcript	splice_acceptor_variant	-/16282	6997/12225	2333/4074				1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3				43/66																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	78	51887247	51887247	T	A	1	0	0	0	0	0	0	1	0	12067	1536	53	4		4	PKHD1	6	51887247	Splice_Site	SNP	T	C3N-01415_TP	1114422	51887247	118918732	234	25520											
DST	0	.	GRCh38	chr6	56704304	56704304	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatctcctgaaagaacctcTaaaagagaaatcaaattgtg	17	10	7	7	0	3	3	1	1	2	2	4	4	3	3	2	0	1	1	2	0	7	3	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.339A>T	p.Leu113Phe	p.L113F	ENST00000312431	4/95	252	212	40	258	258	0	strelka-mutect	DST,missense_variant,p.Leu73Phe,ENST00000361203,;DST,missense_variant,p.Leu73Phe,ENST00000421834,NM_183380.3;DST,missense_variant,p.Leu113Phe,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,missense_variant,p.Leu73Phe,ENST00000370788,;DST,missense_variant,p.Leu113Phe,ENST00000520645,;DST,missense_variant,p.Leu251Phe,ENST00000449297,;DST,missense_variant,p.Leu24Phe,ENST00000522538,;DST,missense_variant,p.Leu66Phe,ENST00000523817,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,non_coding_transcript_exon_variant,,ENST00000521821,;	A	ENST00000312431	Transcript	missense_variant	465/17756	339/16614	113/5537	L/F	ttA/ttT		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1	deleterious(0)		4/95		PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	78	56704304	56704304	T	A	1	0	0	0	0	1	0	0	0	4604	1519	53	4		4	DST	6	56704304	Missense_Mutation	SNP	T	C3N-01415_TP	4817057	56704304	114101675	235	25521											
PRIM2	0	.	GRCh38	chr6	57325954	57325954	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacgctggttcattcaacAagaaatggatctccttcgat	12	12	8	9	2	3	2	2	0	1	2	5	4	3	3	1	2	1	2	1	2	4	4	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.368A>T	p.Gln123Leu	p.Q123L	ENST00000615550	5/14	279	257	22	312	311	1	strelka-varscan-mutect	PRIM2,missense_variant,p.Gln123Leu,ENST00000615550,NM_000947.4;PRIM2,missense_variant,p.Gln123Leu,ENST00000370687,NM_001282488.1;PRIM2,missense_variant,p.Gln123Leu,ENST00000274891,NM_001282487.1;PRIM2,non_coding_transcript_exon_variant,,ENST00000419977,;	T	ENST00000615550	Transcript	missense_variant	455/2308	368/1530	123/509	Q/L	cAa/cTa		1		1	PRIM2	HGNC	HGNC:9370	protein_coding	YES	CCDS75476.1	ENSP00000484105	P49643		UPI0000232A3A	NM_000947.4	deleterious(0)		5/14		Superfamily_domains:0051637,PIRSF_domain:PIRSF009449,hmmpanther:PTHR10537,hmmpanther:PTHR10537:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	57325954	57325954	A	T	1	0	0	0	0	1	0	0	0	12623	130	5	4		4	PRIM2	6	57325954	Missense_Mutation	SNP	A	C3N-01415_TP	621650	57325954	113480025	236	25522											
OOEP	0	.	GRCh38	chr6	73369336	73369336	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccactatgtccactgtcagCagggcctggctcgtccactc	6	10	9	16	1	1	0	1	0	0	0	6	0	4	0	4	2	1	2	4	2	1	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.240G>T	p.=	p.L80L	ENST00000370359	2/3	181	124	57	175	175	0	strelka-varscan-mutect	OOEP,synonymous_variant,p.=,ENST00000370363,;OOEP,synonymous_variant,p.=,ENST00000441145,;OOEP,synonymous_variant,p.=,ENST00000370359,NM_001080507.2;OOEP-AS1,upstream_gene_variant,,ENST00000445350,;RPL39P3,downstream_gene_variant,,ENST00000424573,;	A	ENST00000370359	Transcript	synonymous_variant	240/478	240/450	80/149	L	ctG/ctT		1		-1	OOEP	HGNC	HGNC:21382	protein_coding	YES	CCDS47451.1	ENSP00000359384	A6NGQ2		UPI00001D8132	NM_001080507.2			2/3		hmmpanther:PTHR19447:SF14,hmmpanther:PTHR19447,Pfam_domain:PF16005																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	73369336	73369336	C	A	1	0	0	0	0	0	0	0	1	10946	697	25	2		2	OOEP	6	73369336	Silent	SNP	C	C3N-01415_TP	16043382	73369336	97436643	237	25523											
SIM1	0	.	GRCh38	chr6	100393792	100393792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagccaggcctatcggcgGggtccagaagctgcggagag	8	4	19	10	3	0	2	0	0	0	2	2	4	1	3	3	6	3	1	3	6	2	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1265C>A	p.Pro422His	p.P422H	ENST00000369208	11/12	159	146	13	145	144	1	strelka-varscan-mutect	SIM1,missense_variant,p.Pro422His,ENST00000369208,;SIM1,missense_variant,p.Pro422His,ENST00000262901,NM_005068.2;SIM1,non_coding_transcript_exon_variant,,ENST00000505753,;	T	ENST00000369208	Transcript	missense_variant	2048/8430	1265/2301	422/766	P/H	cCc/cAc		1		-1	SIM1	HGNC	HGNC:10882	protein_coding	YES	CCDS5045.1	ENSP00000358210	P81133		UPI000013D355		deleterious(0.03)		11/12		Pfam_domain:PF06621,PROSITE_profiles:PS51302,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF29																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	100393792	100393792	G	T	1	0	0	0	0	1	0	0	0	14586	1232	43	2		2	SIM1	6	100393792	Missense_Mutation	SNP	G	C3N-01415_TP	27024456	100393792	70412187	238	25524											
LAMA4	0	.	GRCh38	chr6	112191803	112191803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgcagtcacatttcttaCaggtgcttccaatgagtaag	11	12	8	10	0	2	1	1	1	1	0	3	1	3	1	1	1	3	3	1	1	3	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.551G>T	p.Cys184Phe	p.C184F	ENST00000230538	6/39	495	437	58	506	506	0	strelka-varscan-mutect	LAMA4,missense_variant,p.Cys184Phe,ENST00000230538,NM_001105206.2;LAMA4,missense_variant,p.Cys184Phe,ENST00000522006,NM_001105207.2,NM_002290.4;LAMA4,missense_variant,p.Cys184Phe,ENST00000389463,;LAMA4,missense_variant,p.Cys184Phe,ENST00000424408,;LAMA4,missense_variant,p.Cys184Phe,ENST00000521398,;LAMA4,missense_variant,p.Cys4Phe,ENST00000521732,;LAMA4,upstream_gene_variant,,ENST00000368640,;RNU6-1226P,downstream_gene_variant,,ENST00000384317,;LAMA4,non_coding_transcript_exon_variant,,ENST00000524032,;LAMA4,upstream_gene_variant,,ENST00000518842,;	A	ENST00000230538	Transcript	missense_variant	949/6547	551/5472	184/1823	C/F	tGt/tTt		1		-1	LAMA4	HGNC	HGNC:6484	protein_coding	YES	CCDS43491.1	ENSP00000230538		A0A0A0MQS9	UPI000153D541	NM_001105206.2	deleterious(0)		6/39		PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF277,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	112191803	112191803	C	A	1	0	0	0	0	1	0	0	0	8512	478	17	2		2	LAMA4	6	112191803	Missense_Mutation	SNP	C	C3N-01415_TP	11798011	112191803	58614176	239	25525											
LAMA2	0	.	GRCh38	chr6	129287910	129287910	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtcagccatgccaatgCaatgacaaccttgacttctc	11	11	6	13	0	3	2	2	2	1	0	4	2	3	2	3	0	4	1	3	0	3	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.2601C>G	p.Cys867Trp	p.C867W	ENST00000421865	19/65	540	486	54	610	610	0	strelka-varscan-mutect	LAMA2,missense_variant,p.Cys867Trp,ENST00000618192,;LAMA2,missense_variant,p.Cys867Trp,ENST00000617695,;LAMA2,missense_variant,p.Cys867Trp,ENST00000421865,NM_001079823.1,NM_000426.3;	G	ENST00000421865	Transcript	missense_variant	2650/9640	2601/9369	867/3122	C/W	tgC/tgG		1		1	LAMA2	HGNC	HGNC:6482	protein_coding	YES	CCDS5138.1	ENSP00000400365	P24043		UPI00003673E0	NM_001079823.1,NM_000426.3	deleterious(0)		19/65		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF291,SMART_domains:SM00180,Superfamily_domains:SSF57196,Superfamily_domains:SSF57196																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	78	129287910	129287910	C	G	1	0	0	0	0	1	0	0	0	8510	718	25	4		4	LAMA2	6	129287910	Missense_Mutation	SNP	C	C3N-01415_TP	17096107	129287910	41518069	240	25526											
TMEM244	0	.	GRCh38	chr6	129831370	129831370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccaatgtgatgtcaaGgggaattccaacataactgc	13	8	9	11	0	1	1	1	1	0	0	2	2	2	2	3	2	3	0	3	2	5	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.336C>T	p.=	p.P112P	ENST00000368143	5/5	300	277	23	314	314	0	strelka-varscan-mutect	TMEM244,synonymous_variant,p.=,ENST00000438392,;TMEM244,synonymous_variant,p.=,ENST00000368143,NM_001010876.1;	A	ENST00000368143	Transcript	synonymous_variant	419/545	336/387	112/128	P	ccC/ccT		1		-1	TMEM244	HGNC	HGNC:21571	protein_coding	YES	CCDS34536.1	ENSP00000357125	Q5VVB8		UPI0000161685	NM_001010876.1			5/5		hmmpanther:PTHR12952,hmmpanther:PTHR12952:SF1,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	78	129831370	129831370	G	A	1	0	0	0	0	0	0	0	1	16604	987	35	3		3	TMEM244	6	129831370	Silent	SNP	G	C3N-01415_TP	543460	129831370	40974609	241	25527											
REPS1	0	.	GRCh38	chr6	138912914	138912914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgagttatgaggccatCggcatccactgggcgatgca	9	9	14	9	2	0	2	0	2	0	0	2	3	1	2	2	3	1	3	2	3	1	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1822G>T	p.Asp608Tyr	p.D608Y	ENST00000450536	16/20	168	157	11	175	175	0	strelka-varscan-mutect	REPS1,missense_variant,p.Asp608Tyr,ENST00000450536,NM_001286611.1;REPS1,missense_variant,p.Asp607Tyr,ENST00000258062,NM_031922.4;REPS1,missense_variant,p.Asp581Tyr,ENST00000367663,NM_001128617.2;REPS1,missense_variant,p.Asp517Tyr,ENST00000409812,NM_001286612.1;REPS1,missense_variant,p.Asp566Tyr,ENST00000529597,;REPS1,missense_variant,p.Asp581Tyr,ENST00000415951,;REPS1,missense_variant,p.Asp131Tyr,ENST00000530255,;REPS1,3_prime_UTR_variant,,ENST00000626459,;REPS1,upstream_gene_variant,,ENST00000478483,;REPS1,upstream_gene_variant,,ENST00000526022,;REPS1,3_prime_UTR_variant,,ENST00000483468,;REPS1,3_prime_UTR_variant,,ENST00000445570,;REPS1,non_coding_transcript_exon_variant,,ENST00000484164,;REPS1,non_coding_transcript_exon_variant,,ENST00000492787,;REPS1,non_coding_transcript_exon_variant,,ENST00000529423,;REPS1,upstream_gene_variant,,ENST00000530370,;REPS1,upstream_gene_variant,,ENST00000526244,;	A	ENST00000450536	Transcript	missense_variant	2397/4537	1822/2391	608/796	D/Y	Gat/Tat		1		-1	REPS1	HGNC	HGNC:15578	protein_coding	YES	CCDS69213.1	ENSP00000392065	Q96D71		UPI000020E300	NM_001286611.1	deleterious(0.01)		16/20																			MODERATE	1	SNV	1			1										PASS		rs1274364851	.												A	3	1	78	138912914	138912914	C	A	1	0	0	0	0	1	0	0	0	13398	884	31	1		1	REPS1	6	138912914	Missense_Mutation	SNP	C	C3N-01415_TP	9081544	138912914	31893065	242	25528											
MTHFD1L	0	.	GRCh38	chr6	151092495	151092495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgccaggactgcccacccGgccctgcttttatgacatag	8	9	9	15	1	0	1	0	1	0	0	0	2	0	2	4	2	3	1	4	2	2	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2879G>T	p.Arg960Leu	p.R960L	ENST00000611279	27/28	252	224	28	243	243	0	strelka-varscan-mutect	MTHFD1L,missense_variant,p.Arg959Leu,ENST00000367321,NM_015440.4;MTHFD1L,missense_variant,p.Arg960Leu,ENST00000611279,NM_001242767.1;MTHFD1L,missense_variant,p.Arg894Leu,ENST00000618312,NM_001242768.1;RP1-292B18.4,intron_variant,,ENST00000415477,;	T	ENST00000611279	Transcript	missense_variant	3023/3475	2879/2940	960/979	R/L	cGg/cTg		1		1	MTHFD1L	HGNC	HGNC:21055	protein_coding	YES	CCDS75535.1	ENSP00000478253		B7ZM99	UPI000166C73D	NM_001242767.1	deleterious(0.01)		27/28		HAMAP:MF_01543,hmmpanther:PTHR10025,hmmpanther:PTHR10025:SF14,Pfam_domain:PF01268,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	78	151092495	151092495	G	T	1	0	0	0	0	1	0	0	0	9917	1116	39	1		1	MTHFD1L	6	151092495	Missense_Mutation	SNP	G	C3N-01415_TP	12179581	151092495	19713484	243	25529											
MAS1	0	.	GRCh38	chr6	159907384	159907384	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatctggtaccgatgccaTcgccccaagtaccagtcggc	8	7	9	17	3	1	0	0	0	1	0	3	1	1	0	6	2	3	2	6	2	3	2	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.429T>C	p.=	p.H143H	ENST00000252660	1/1	415	374	41	405	405	0	strelka-varscan-mutect	MAS1,synonymous_variant,p.=,ENST00000252660,NM_002377.2;RP1-249F5.3,downstream_gene_variant,,ENST00000434562,;	C	ENST00000252660	Transcript	synonymous_variant	695/9841	429/978	143/325	H	caT/caC		1		1	MAS1	HGNC	HGNC:6899	protein_coding	YES	CCDS5272.1	ENSP00000252660	P04201	W8W3P4	UPI0000050458	NM_002377.2			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF30,hmmpanther:PTHR11334,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW		SNV				1										PASS		.	.												C	2	2	78	159907384	159907384	T	C	1	0	0	0	0	0	0	0	1	9246	1432	50	5		5	MAS1	6	159907384	Silent	SNP	T	C3N-01415_TP	8814889	159907384	10898595	244	25530											
TCP10	0	.	GRCh38	chr6	167377963	167377963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acgaagggtcacctttggagGagctaagtggttagatgacc	11	9	14	7	1	1	2	1	1	0	1	1	5	1	4	2	4	1	2	2	4	3	3	rs563134633		C3N-01415_TP	C3N-01415_NB	G	G																c.409C>G	p.Pro137Ala	p.P137A	ENST00000397829	4/8	302	271	31	337	337	0	varscan-mutect	TCP10,missense_variant,p.Pro133Ala,ENST00000460930,;TCP10,missense_variant,p.Pro137Ala,ENST00000366827,;TCP10,missense_variant,p.Pro163Ala,ENST00000617120,;TCP10,missense_variant,p.Pro137Ala,ENST00000397829,NM_004610.3;TCP10,downstream_gene_variant,,ENST00000476779,;TCP10,downstream_gene_variant,,ENST00000485157,;TCP10,non_coding_transcript_exon_variant,,ENST00000508373,;TCP10,non_coding_transcript_exon_variant,,ENST00000463894,;TCP10,non_coding_transcript_exon_variant,,ENST00000491085,;TCP10,upstream_gene_variant,,ENST00000514083,;	C	ENST00000397829	Transcript	missense_variant	577/2141	409/981	137/326	P/A	Cct/Gct	rs563134633	1		-1	TCP10	HGNC	HGNC:11656	protein_coding	YES	CCDS43527.1	ENSP00000380929		D1MPS5	UPI0000D820CE	NM_004610.3	tolerated(0.32)		4/8		hmmpanther:PTHR10331																	MODERATE	1	SNV	1			1										PASS		rs563134633	.												C	3	2	78	167377963	167377963	G	C	1	0	0	0	0	1	0	0	0	16117	1174	41	4		4	TCP10	6	167377963	Missense_Mutation	SNP	G	C3N-01415_TP	7470579	167377963	3428016	245	25531											
VWDE	0	.	GRCh38	chr7	12383602	12383602	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatcgtgcatcagaaatagCtgccaagggttaaggtttgt	12	12	11	6	1	1	1	1	0	0	1	2	1	1	1	1	2	3	4	1	2	5	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.476-1G>T		p.X159_splice	ENST00000275358		303	230	73	319	317	2	strelka-varscan-mutect	VWDE,splice_acceptor_variant,,ENST00000275358,NM_001135924.1;VWDE,splice_acceptor_variant,,ENST00000614403,;VWDE,splice_acceptor_variant,,ENST00000452576,;VWDE,splice_acceptor_variant,,ENST00000521169,;VWDE,splice_acceptor_variant,,ENST00000326715,;	A	ENST00000275358	Transcript	splice_acceptor_variant	-/5260	476/4773	159/1590				1		-1	VWDE	HGNC	HGNC:21897	protein_coding	YES	CCDS47544.1	ENSP00000275358	Q8N2E2		UPI00006C0B98	NM_001135924.1				3/28																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	78	12383602	12383602	C	A	1	0	0	0	0	0	0	1	0	17805	811	28	2		2	VWDE	7	12383602	Splice_Site	SNP	C	C3N-01415_TP		12383602	146962371	246	25532											
ABCB5	0	.	GRCh38	chr7	20650092	20650092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtcggtctcaatggcagtgGgaagagtacggtagtccagc	9	8	16	8	2	1	1	1	0	1	1	4	2	2	2	1	5	2	3	1	5	4	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1277G>T	p.Gly426Val	p.G426V	ENST00000404938	12/28	369	344	25	331	330	1	strelka-varscan-mutect	ABCB5,missense_variant,p.Gly426Val,ENST00000404938,NM_001163941.1;ABCB5,5_prime_UTR_variant,,ENST00000258738,NM_178559.5;ABCB5,5_prime_UTR_variant,,ENST00000443026,NM_001163942.1;ABCB5,5_prime_UTR_variant,,ENST00000406935,NM_001163993.2;ABCB5,non_coding_transcript_exon_variant,,ENST00000477094,;	T	ENST00000404938	Transcript	missense_variant	1929/5811	1277/3774	426/1257	G/V	gGg/gTg		1		1	ABCB5	HGNC	HGNC:46	protein_coding	YES	CCDS55090.1	ENSP00000384881	Q2M3G0		UPI000173A253	NM_001163941.1	deleterious(0)		12/28		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	20650092	20650092	G	T	1	0	0	0	0	1	0	0	0	48	1232	43	2		2	ABCB5	7	20650092	Missense_Mutation	SNP	G	C3N-01415_TP	8266490	20650092	138695881	247	25533											
NFE2L3	0	.	GRCh38	chr7	26185062	26185062	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattgcactgaccatgaatCtagttcccatcatgacttag	11	14	6	10	0	2	3	1	3	1	0	3	3	3	3	2	0	1	2	2	0	4	5	rs771810558		C3N-01415_TP	C3N-01415_NB	C	C																c.1364C>G	p.Ser455Cys	p.S455C	ENST00000056233	4/4	347	306	41	332	332	0	strelka-varscan-mutect	NFE2L3,missense_variant,p.Ser455Cys,ENST00000056233,NM_004289.6;HNRNPA2B1,downstream_gene_variant,,ENST00000354667,NM_031243.2;HNRNPA2B1,downstream_gene_variant,,ENST00000618183,;NFE2L3,downstream_gene_variant,,ENST00000607375,;HNRNPA2B1,downstream_gene_variant,,ENST00000476233,;NFE2L3,non_coding_transcript_exon_variant,,ENST00000606261,;	G	ENST00000056233	Transcript	missense_variant	1623/3686	1364/2085	455/694	S/C	tCt/tGt	rs771810558,COSM5634034	1		1	NFE2L3	HGNC	HGNC:7783	protein_coding	YES	CCDS5396.1	ENSP00000056233	Q9Y4A8		UPI000007206C	NM_004289.6	deleterious(0.02)		4/4		hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF8											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs771810558	.												G	3	3	78	26185062	26185062	C	G	1	0	0	0	0	1	0	0	0	10406	913	32	4		4	NFE2L3	7	26185062	Missense_Mutation	SNP	C	C3N-01415_TP	5534970	26185062	133160911	248	25534											
TRIL	0	.	GRCh38	chr7	28956170	28956170	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgggctgctggccaaagCggtcaaagagcaggcggaag	11	5	16	9	2	1	1	1	0	0	1	1	2	1	2	1	5	3	3	1	5	3	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1877G>T	p.Arg626Leu	p.R626L	ENST00000539664	1/1	121	114	7	142	142	0	strelka-varscan-mutect	TRIL,missense_variant,p.Arg626Leu,ENST00000539664,NM_014817.3;AC005013.5,upstream_gene_variant,,ENST00000436594,;	A	ENST00000539664	Transcript	missense_variant	2123/4935	1877/2436	626/811	R/L	cGc/cTc		1		-1	TRIL	HGNC	HGNC:22200	protein_coding	YES	CCDS75573.1	ENSP00000479256	Q7L0X0		UPI00005C3DAC	NM_014817.3	deleterious(0)		1/1		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF263																	MODERATE		SNV				1										PASS		.	.												A	3	1	78	28956170	28956170	C	A	1	0	0	0	0	1	0	0	0	16974	768	27	1		1	TRIL	7	28956170	Missense_Mutation	SNP	C	C3N-01415_TP	2771108	28956170	130389803	249	25535											
ELMO1	0	.	GRCh38	chr7	36887572	36887572	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaataccttgcctccgccGggcattgagtttcctaaagc	10	10	8	13	2	0	1	0	1	0	0	2	1	2	1	5	1	4	2	5	1	5	5			C3N-01415_TP	C3N-01415_NB	G	G																c.1702C>A	p.=	p.R568R	ENST00000310758	18/22	251	213	38	222	222	0	strelka-varscan-mutect	ELMO1,synonymous_variant,p.=,ENST00000310758,NM_001206480.2,NM_014800.10;ELMO1,synonymous_variant,p.=,ENST00000442504,NM_001206482.1;ELMO1,synonymous_variant,p.=,ENST00000448602,;ELMO1,synonymous_variant,p.=,ENST00000396045,NM_130442.3;ELMO1,synonymous_variant,p.=,ENST00000396040,NM_001039459.2;ELMO1,intron_variant,,ENST00000487843,;ELMO1,intron_variant,,ENST00000464262,;	T	ENST00000310758	Transcript	synonymous_variant	2350/4022	1702/2184	568/727	R	Cgg/Agg	COSM362534	1		-1	ELMO1	HGNC	HGNC:16286	protein_coding	YES	CCDS5449.1	ENSP00000312185	Q92556	A4D1X5	UPI000006F687	NM_001206480.2,NM_014800.10			18/22		Gene3D:2.30.29.30,Pfam_domain:PF16457,hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF23,Superfamily_domains:SSF50729											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	78	36887572	36887572	G	T	1	0	0	0	0	0	0	0	1	4899	1115	39	1		1	ELMO1	7	36887572	Silent	SNP	G	C3N-01415_TP	7931402	36887572	122458401	250	25536											
SUGCT	0	.	GRCh38	chr7	40496369	40496369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatcaacaacatgaagaatGtatttgcagaacctcaggtt	16	10	7	8	0	2	3	2	1	0	2	2	3	2	3	1	1	4	3	1	1	7	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1093G>T	p.Val365Leu	p.V365L	ENST00000628514	12/15	369	344	25	369	369	0	strelka-varscan-mutect	SUGCT,missense_variant,p.Val365Leu,ENST00000335693,NM_001193313.1;SUGCT,missense_variant,p.Val360Leu,ENST00000416370,;SUGCT,missense_variant,p.Val365Leu,ENST00000628514,NM_024728.2,NM_001193311.1;SUGCT,missense_variant,p.Val317Leu,ENST00000401647,NM_001193312.1;	T	ENST00000628514	Transcript	missense_variant	1116/1591	1093/1416	365/471	V/L	Gta/Tta		1		1	SUGCT	HGNC	HGNC:16001	protein_coding	YES	CCDS55104.1	ENSP00000486291	Q9HAC7		UPI000013EF6B	NM_024728.2,NM_001193311.1	deleterious(0.01)		12/15		Gene3D:3.40.50.10540,Pfam_domain:PF02515,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF593,Superfamily_domains:SSF89796																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	40496369	40496369	G	T	1	0	0	0	0	1	0	0	0	15754	1377	48	2		2	SUGCT	7	40496369	Missense_Mutation	SNP	G	C3N-01415_TP	3608797	40496369	118849604	251	25537											
PGAM2	0	.	GRCh38	chr7	44064889	44064892	+	Frame_Shift_Del	DEL	GCTT	GCTT	-																															gtgggctgcaatgagcactcGcttgccggccttgatctggg																								novel		C3N-01415_TP	C3N-01415_NB	GCTT	GCTT																c.535_538delAAGC	p.Lys179GlufsTer29	p.K179Efs*29	ENST00000297283	2/3	241	204	37	215	215	0	sindel-varindel-pindel	PGAM2,frameshift_variant,p.Lys179GlufsTer29,ENST00000297283,NM_000290.3;DBNL,3_prime_UTR_variant,,ENST00000432854,;DBNL,downstream_gene_variant,,ENST00000494774,NM_014063.6;DBNL,downstream_gene_variant,,ENST00000468694,NM_001122956.1;DBNL,downstream_gene_variant,,ENST00000490734,NM_001284315.1;DBNL,downstream_gene_variant,,ENST00000448521,NM_001014436.2;DBNL,downstream_gene_variant,,ENST00000452943,;DBNL,downstream_gene_variant,,ENST00000440166,NM_001284313.1;DBNL,downstream_gene_variant,,ENST00000456905,;DBNL,downstream_gene_variant,,ENST00000452661,;AC017116.11,upstream_gene_variant,,ENST00000445938,;AC017116.11,upstream_gene_variant,,ENST00000425727,;DBNL,downstream_gene_variant,,ENST00000497184,;DBNL,downstream_gene_variant,,ENST00000449997,;DBNL,downstream_gene_variant,,ENST00000441840,;DBNL,downstream_gene_variant,,ENST00000429716,;DBNL,downstream_gene_variant,,ENST00000411855,;DBNL,downstream_gene_variant,,ENST00000498733,;	-	ENST00000297283	Transcript	frameshift_variant	593-596/857	535-538/762	179-180/253	KR/X	AAGCga/ga		1		-1	PGAM2	HGNC	HGNC:8889	protein_coding	YES	CCDS34624.1	ENSP00000297283	P15259		UPI000013E3E8	NM_000290.3			2/3		Gene3D:3.40.50.1240,HAMAP:MF_01039,Pfam_domain:PF00300,hmmpanther:PTHR11931,hmmpanther:PTHR11931:SF8,SMART_domains:SM00855,Superfamily_domains:SSF53254,TIGRFAM_domain:TIGR01258																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	78	44064889	44064889	GCTT	-	1	0	1	0	1	0	0	0	0	11864	1095	38	0		0	PGAM2	7	44064889	Frame_Shift_Del	DEL	GCTT	C3N-01415_TP	3568520	44064889	115281084	252	25538											
ABCA13	0	.	GRCh38	chr7	48274574	48274574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttggtattcaactgataagGgatgtgttcaactccttaat	11	15	8	7	0	2	1	2	1	0	0	3	2	3	2	1	2	2	2	1	2	5	6	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.4908G>T	p.Arg1636Ser	p.R1636S	ENST00000435803	17/62	689	509	180	594	593	1	strelka-varscan-mutect	ABCA13,missense_variant,p.Arg1636Ser,ENST00000435803,NM_152701.4;ABCA13,upstream_gene_variant,,ENST00000544596,;ABCA13,upstream_gene_variant,,ENST00000611776,;ABCA13,downstream_gene_variant,,ENST00000417403,;	T	ENST00000435803	Transcript	missense_variant	4932/17184	4908/15177	1636/5058	R/S	agG/agT		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4	deleterious(0)		17/62																			MODERATE	1	SNV	1			1										PASS		rs1290234871	.												T	3	4	78	48274574	48274574	G	T	1	0	0	0	0	1	0	0	0	35	1223	43	2		2	ABCA13	7	48274574	Missense_Mutation	SNP	G	C3N-01415_TP	4209685	48274574	111071399	253	25539											
ABCA13	0	.	GRCh38	chr7	48427865	48427865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctacaggacatctgtctGgctactgtaagtacagaatg	11	10	11	9	0	2	1	0	0	2	1	2	2	2	2	1	3	3	3	1	3	5	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.12559G>T	p.Gly4187Cys	p.G4187C	ENST00000435803	42/62	92	77	15	77	77	0	strelka-varscan-mutect	ABCA13,missense_variant,p.Gly4187Cys,ENST00000435803,NM_152701.4;ABCA13,missense_variant,p.Gly1494Cys,ENST00000544596,;ABCA13,non_coding_transcript_exon_variant,,ENST00000611776,;ABCA13,missense_variant,p.Gly453Cys,ENST00000453246,;	T	ENST00000435803	Transcript	missense_variant	12583/17184	12559/15177	4187/5058	G/C	Ggc/Tgc		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4	deleterious(0.01)		42/62		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	48427865	48427865	G	T	1	0	0	0	0	1	0	0	0	35	1348	47	2		2	ABCA13	7	48427865	Missense_Mutation	SNP	G	C3N-01415_TP	153291	48427865	110918108	254	25540											
VSTM2A	0	.	GRCh38	chr7	54550034	54550034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcgaagcctcgcccatgtgGctgcaggatatgaagccccg	8	8	12	13	3	0	1	0	1	0	0	2	3	0	2	4	2	3	2	4	2	3	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.498G>T	p.Trp166Cys	p.W166C	ENST00000402613	4/5	492	388	104	251	250	1	strelka-varscan-mutect	VSTM2A,missense_variant,p.Trp166Cys,ENST00000302287,NM_001317843.1;VSTM2A,missense_variant,p.Trp166Cys,ENST00000407838,NM_182546.3;VSTM2A,missense_variant,p.Trp166Cys,ENST00000404951,;VSTM2A,missense_variant,p.Trp166Cys,ENST00000402613,NM_001301009.1;VSTM2A,non_coding_transcript_exon_variant,,ENST00000498834,;VSTM2A,non_coding_transcript_exon_variant,,ENST00000466888,;VSTM2A,non_coding_transcript_exon_variant,,ENST00000469952,;VSTM2A,downstream_gene_variant,,ENST00000495904,;	T	ENST00000402613	Transcript	missense_variant	624/1076	498/723	166/240	W/C	tgG/tgT		1		1	VSTM2A	HGNC	HGNC:28499	protein_coding	YES	CCDS75604.1	ENSP00000384103		F8W8J5	UPI00003E58E7	NM_001301009.1	deleterious(0.05)		4/5		hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF23																	MODERATE	1	SNV	2			1										PASS		rs1463999118	.												T	3	4	78	54550034	54550034	G	T	1	0	0	0	0	1	0	0	0	17780	1212	42	2		2	VSTM2A	7	54550034	Missense_Mutation	SNP	G	C3N-01415_TP	6122169	54550034	104795939	255	25541											
EGFR	0	.	GRCh38	chr7	55205437	55205437	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgtgtcaacagcacattCgacagccctgcccactgggc	9	7	9	16	1	1	0	1	0	0	0	2	1	1	0	3	1	4	1	3	1	1	1			C3N-01415_TP	C3N-01415_NB	C	C																c.3453C>T	p.=	p.F1151F	ENST00000275493	28/28	717	674	43	348	348	0	strelka-varscan-mutect	EGFR,synonymous_variant,p.=,ENST00000275493,NM_005228.3;EGFR,synonymous_variant,p.=,ENST00000454757,;EGFR,downstream_gene_variant,,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000485503,;	T	ENST00000275493	Transcript	synonymous_variant	3630/9821	3453/3633	1151/1210	F	ttC/ttT	COSM3266666	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			28/28													1						LOW	1	SNV	1		1	1										PASS		rs1040652650	.												T	2	4	78	55205437	55205437	C	T	1	0	0	0	0	0	0	0	1	4803	883	31	1		1	EGFR	7	55205437	Silent	SNP	C	C3N-01415_TP	655403	55205437	104140536	256	25542											
ZNF479	0	.	GRCh38	chr7	57120420	57120420	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaggaccagctaaaggctTtgccacattcctcacacctg	10	10	8	13	0	1	1	1	1	0	0	2	2	2	2	4	2	2	2	4	2	2	4	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.995A>G	p.Lys332Arg	p.K332R	ENST00000331162	5/5	267	240	27	264	264	0	varscan-mutect	ZNF479,missense_variant,p.Lys332Arg,ENST00000331162,NM_033273.2;ZNF479,missense_variant,p.Lys332Arg,ENST00000319636,;ZNF479,missense_variant,p.Lys248Arg,ENST00000620639,;	C	ENST00000331162	Transcript	missense_variant	1266/2072	995/1575	332/524	K/R	aAa/aGa		1		-1	ZNF479	HGNC	HGNC:23258	protein_coding	YES	CCDS43590.1	ENSP00000333776	Q96JC4		UPI000006E615	NM_033273.2	deleterious(0.02)		5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF103,SMART_domains:SM00355																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	57120420	57120420	T	C	1	0	0	0	0	1	0	0	0	18505	1841	64	5		5	ZNF479	7	57120420	Missense_Mutation	SNP	T	C3N-01415_TP	1914983	57120420	102225553	257	25543											
GUSB	0	.	GRCh38	chr7	65970286	65970286	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacccccaggctcacccccTtgtctgctgcatagttagag	7	9	10	15	0	2	1	1	0	1	1	2	2	2	2	4	2	2	4	4	2	2	3	rs771250055		C3N-01415_TP	C3N-01415_NB	T	T																c.1472A>T	p.Lys491Met	p.K491M	ENST00000304895	9/12	495	459	36	434	434	0	varscan-mutect	GUSB,missense_variant,p.Lys491Met,ENST00000304895,NM_001293105.1,NM_001293104.1,NM_000181.3;GUSB,missense_variant,p.Lys345Met,ENST00000421103,NM_001284290.1;GUSB,downstream_gene_variant,,ENST00000476486,;GUSB,downstream_gene_variant,,ENST00000465785,;GUSB,downstream_gene_variant,,ENST00000475316,;GUSB,downstream_gene_variant,,ENST00000479038,;GUSB,3_prime_UTR_variant,,ENST00000447929,;GUSB,3_prime_UTR_variant,,ENST00000430730,;GUSB,non_coding_transcript_exon_variant,,ENST00000462371,;GUSB,intron_variant,,ENST00000466883,;GUSB,downstream_gene_variant,,ENST00000489482,;GUSB,upstream_gene_variant,,ENST00000461622,;	A	ENST00000304895	Transcript	missense_variant	1603/2300	1472/1956	491/651	K/M	aAg/aTg	rs771250055	1		-1	GUSB	HGNC	HGNC:4696	protein_coding	YES	CCDS5530.1	ENSP00000302728	P08236		UPI000013E9E0	NM_001293105.1,NM_001293104.1,NM_000181.3	tolerated(0.18)		9/12		Gene3D:3.20.20.80,Pfam_domain:PF02836,hmmpanther:PTHR10066,hmmpanther:PTHR10066:SF67,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	65970286	65970286	T	A	1	0	0	0	0	1	0	0	0	6784	1623	56	4		4	GUSB	7	65970286	Missense_Mutation	SNP	T	C3N-01415_TP	8849866	65970286	93375687	258	25544											
RHBDD2	0	.	GRCh38	chr7	75888349	75888349	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggtccccatgccctgAgagaatttctagggaagtca	10	9	11	11	0	2	2	1	1	1	1	4	4	4	3	4	2	1	0	4	2	3	2	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.1095A>C	p.Ter365CysextTer4	p.*365Cext*4	ENST00000006777	4/4	134	101	33	121	121	0	strelka-varscan-mutect	RHBDD2,stop_lost,p.Ter224CysextTer4,ENST00000318622,NM_001040457.1;RHBDD2,stop_lost,p.Ter365CysextTer4,ENST00000006777,NM_001040456.1;RHBDD2,stop_lost,p.Ter224CysextTer4,ENST00000428119,;RHBDD2,non_coding_transcript_exon_variant,,ENST00000468304,;RHBDD2,downstream_gene_variant,,ENST00000467406,;RHBDD2,3_prime_UTR_variant,,ENST00000454791,;	C	ENST00000006777	Transcript	stop_lost	1230/1802	1095/1095	365/364	*/C	tgA/tgC		1		1	RHBDD2	HGNC	HGNC:23082	protein_coding	YES	CCDS43602.1	ENSP00000006777	Q6NTF9		UPI0000072213	NM_001040456.1			4/4																			HIGH	1	SNV	1			1										PASS		.	.												C	4	2	78	75888349	75888349	A	C	1	0	0	0	0	0	0	0	0	13489	317	11	5		5	RHBDD2	7	75888349	Nonstop_Mutation	SNP	A	C3N-01415_TP	9918063	75888349	83457624	259	25545											
PCLO	0	.	GRCh38	chr7	82954765	82954765	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcataagttcttcataggcaGcatcagcatctagtagtttc	11	14	7	9	0	5	0	3	0	2	0	6	0	5	0	0	1	2	6	0	1	4	7	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.6188C>G	p.Ala2063Gly	p.A2063G	ENST00000333891	5/25	257	236	21	286	286	0	strelka-varscan-mutect	PCLO,missense_variant,p.Ala2063Gly,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Ala2063Gly,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	C	ENST00000333891	Transcript	missense_variant	6526/20329	6188/15429	2063/5142	A/G	gCt/gGt		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	deleterious(0)		5/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	78	82954765	82954765	G	C	1	0	0	0	0	1	0	0	0	11671	971	34	4		4	PCLO	7	82954765	Missense_Mutation	SNP	G	C3N-01415_TP	7066416	82954765	76391208	260	25546											
SEMA3A	0	.	GRCh38	chr7	84046344	84046344	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgagccacctggaatcaTgctgctctgtcctgattggg	7	12	11	11	0	2	2	1	2	1	0	3	3	3	3	3	2	3	2	3	2	1	2	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.647A>C	p.His216Pro	p.H216P	ENST00000265362	6/17	292	266	26	250	250	0	strelka-varscan-mutect	SEMA3A,missense_variant,p.His216Pro,ENST00000265362,NM_006080.2;SEMA3A,missense_variant,p.His216Pro,ENST00000436949,;	G	ENST00000265362	Transcript	missense_variant	962/8225	647/2316	216/771	H/P	cAt/cCt		1		-1	SEMA3A	HGNC	HGNC:10723	protein_coding	YES	CCDS5599.1	ENSP00000265362	Q14563		UPI0000135A60	NM_006080.2	tolerated(0.05)		6/17		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF23,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	84046344	84046344	T	G	1	0	0	0	0	1	0	0	0	14300	1464	51	5		5	SEMA3A	7	84046344	Missense_Mutation	SNP	T	C3N-01415_TP	1091579	84046344	75299629	261	25547											
ZNF804B	0	.	GRCh38	chr7	89333708	89333708	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagttttcagtgagaacacAgaagaaacccatgattgtaa	16	10	8	7	0	2	4	2	2	0	3	2	5	2	4	1	0	2	2	1	0	4	4	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.726A>T	p.=	p.T242T	ENST00000333190	4/4	306	288	18	332	332	0	strelka-varscan-mutect	ZNF804B,synonymous_variant,p.=,ENST00000333190,NM_181646.3;ZNF804B,synonymous_variant,p.=,ENST00000611114,;	T	ENST00000333190	Transcript	synonymous_variant	1335/4659	726/4050	242/1349	T	acA/acT		1		1	ZNF804B	HGNC	HGNC:21958	protein_coding	YES	CCDS5613.1	ENSP00000329638	A4D1E1		UPI00001A92D2	NM_181646.3			4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	89333708	89333708	A	T	1	0	0	0	0	0	0	0	1	18756	175	7	4		4	ZNF804B	7	89333708	Silent	SNP	A	C3N-01415_TP	5287364	89333708	70012265	262	25548											
DYNC1I1	0	.	GRCh38	chr7	95995956	95995956	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttccatttagtaccctgaGctgatggtggcttcttacaa	8	15	8	10	0	2	2	0	2	2	0	3	2	3	2	2	2	3	3	2	2	4	6	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.903G>A	p.=	p.E301E	ENST00000324972	10/17	144	135	9	155	155	0	strelka-varscan-mutect	DYNC1I1,synonymous_variant,p.=,ENST00000324972,NM_004411.4;DYNC1I1,synonymous_variant,p.=,ENST00000447467,NM_001135556.1;DYNC1I1,synonymous_variant,p.=,ENST00000437599,NM_001278421.1;DYNC1I1,synonymous_variant,p.=,ENST00000359388,NM_001135557.1;DYNC1I1,synonymous_variant,p.=,ENST00000457059,;DYNC1I1,synonymous_variant,p.=,ENST00000630942,NM_001278422.1;DYNC1I1,synonymous_variant,p.=,ENST00000537881,;DYNC1I1,non_coding_transcript_exon_variant,,ENST00000519371,;	A	ENST00000324972	Transcript	synonymous_variant	1096/2950	903/1938	301/645	E	gaG/gaA		1		1	DYNC1I1	HGNC	HGNC:2963	protein_coding	YES	CCDS5644.1	ENSP00000320130	O14576	A4D1I7	UPI0000129A01	NM_004411.4			10/17		hmmpanther:PTHR12442:SF34,hmmpanther:PTHR12442,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	95995956	95995956	G	A	1	0	0	0	0	0	0	0	1	4666	962	34	3		3	DYNC1I1	7	95995956	Silent	SNP	G	C3N-01415_TP	6662248	95995956	63350017	263	25549											
TRRAP	0	.	GRCh38	chr7	98899467	98899467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctctgaaagtgttggcaGaattgcccattattgttgtt	8	18	9	6	0	1	2	0	1	1	1	2	2	1	2	1	1	1	4	1	1	3	7			C3N-01415_TP	C3N-01415_NB	G	G																c.679G>A	p.Glu227Lys	p.E227K	ENST00000359863	9/72	349	319	30	260	260	0	strelka-varscan-mutect	TRRAP,missense_variant,p.Glu227Lys,ENST00000359863,NM_001244580.1;TRRAP,missense_variant,p.Glu227Lys,ENST00000628380,;TRRAP,missense_variant,p.Glu227Lys,ENST00000355540,NM_003496.3;TRRAP,missense_variant,p.Glu227Lys,ENST00000446306,;TRRAP,upstream_gene_variant,,ENST00000456197,;	A	ENST00000359863	Transcript	missense_variant	888/12677	679/11580	227/3859	E/K	Gaa/Aaa	COSM1268754,COSM1268755,COSM4820286,COSM4820287	1		1	TRRAP	HGNC	HGNC:12347	protein_coding	YES	CCDS59066.1	ENSP00000352925	Q9Y4A5		UPI00004575B4	NM_001244580.1	deleterious(0.01)		9/72		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												A	3	1	78	98899467	98899467	G	A	1	0	0	0	0	1	0	0	0	17107	943	33	3		3	TRRAP	7	98899467	Missense_Mutation	SNP	G	C3N-01415_TP	2903511	98899467	60446506	264	25550											
ARPC1B	0	.	GRCh38	chr7	99392876	99392876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacaagaacagcgtcaGgtgagagcgggagccgggcc	10	3	17	11	3	1	2	1	1	0	2	1	4	1	3	2	3	5	2	2	3	2	0	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.989G>T	p.Ser330Ile	p.S330I	ENST00000451682	10/12	121	98	23	93	93	0	strelka-varscan-mutect	ARPC1B,missense_variant,p.Ser330Ile,ENST00000451682,;ARPC1B,missense_variant,p.Ser330Ile,ENST00000252725,NM_005720.3;PDAP1,downstream_gene_variant,,ENST00000350498,NM_014891.6;ARPC1B,downstream_gene_variant,,ENST00000443222,;ARPC1B,downstream_gene_variant,,ENST00000431816,;ARPC1B,downstream_gene_variant,,ENST00000455009,;ARPC1B,downstream_gene_variant,,ENST00000414376,;ARPC1B,downstream_gene_variant,,ENST00000418347,;ARPC1B,downstream_gene_variant,,ENST00000458033,;ARPC1B,downstream_gene_variant,,ENST00000417330,;ARPC1B,downstream_gene_variant,,ENST00000427217,;PDAP1,intron_variant,,ENST00000496335,;ARPC1B,downstream_gene_variant,,ENST00000474880,;ARPC1B,upstream_gene_variant,,ENST00000463078,;ARPC1B,downstream_gene_variant,,ENST00000493403,;ARPC1B,splice_region_variant,,ENST00000491294,;ARPC1B,splice_region_variant,,ENST00000481997,;ARPC1A,downstream_gene_variant,,ENST00000441989,;ARPC1B,downstream_gene_variant,,ENST00000468337,;ARPC1B,downstream_gene_variant,,ENST00000432343,;ARPC1B,downstream_gene_variant,,ENST00000484375,;PDAP1,downstream_gene_variant,,ENST00000426447,;ARPC1B,downstream_gene_variant,,ENST00000445924,;ARPC1B,downstream_gene_variant,,ENST00000484600,;	T	ENST00000451682	Transcript	missense_variant,splice_region_variant	1298/1715	989/1119	330/372	S/I	aGc/aTc		1		1	ARPC1B	HGNC	HGNC:704	protein_coding	YES	CCDS5661.1	ENSP00000389631	O15143	A4D275	UPI0000125D33		deleterious(0.04)		10/12		Gene3D:2.130.10.10,PIRSF_domain:PIRSF038093,hmmpanther:PTHR10709,hmmpanther:PTHR10709:SF10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	78	99392876	99392876	G	T	1	0	0	0	0	1	0	0	0	1112	1014	35	2		2	ARPC1B	7	99392876	Missense_Mutation	SNP	G	C3N-01415_TP	493409	99392876	59953097	265	25551											
MUC17	0	.	GRCh38	chr7	101033661	101033661	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagtgaaggaagcactccaTtaacaagtatgcctgtcagc	13	9	9	10	0	1	1	1	1	0	0	2	2	2	2	2	1	4	2	2	1	6	3	rs71557224		C3N-01415_TP	C3N-01415_NB	T	T																c.2245T>A	p.Leu749Ile	p.L749I	ENST00000306151	3/13	255	204	51	275	274	1	strelka-varscan-mutect	MUC17,missense_variant,p.Leu749Ile,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Leu749Ile,ENST00000379439,;	A	ENST00000306151	Transcript	missense_variant	2309/14247	2245/13482	749/4493	L/I	Tta/Ata	rs71557224,COSM743581	1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	tolerated(0.22)		3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs71557224	.												A	3	1	78	101033661	101033661	T	A	1	0	0	0	0	1	0	0	0	9973	1490	52	4		4	MUC17	7	101033661	Missense_Mutation	SNP	T	C3N-01415_TP	1640785	101033661	58312312	266	25552											
MUC17	0	.	GRCh38	chr7	101037251	101037251	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagttctgaaatcaacacCctttcaacaactcttgctga	12	11	5	13	0	4	2	2	2	2	0	4	2	4	2	2	0	4	2	2	0	4	3	rs200579827		C3N-01415_TP	C3N-01415_NB	C	C																c.5835C>A	p.=	p.T1945T	ENST00000306151	3/13	100	85	15	127	127	0	strelka-varscan-mutect	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,synonymous_variant,p.=,ENST00000379439,;	A	ENST00000306151	Transcript	synonymous_variant	5899/14247	5835/13482	1945/4493	T	acC/acA	rs200579827,COSM3922360	1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1			3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1											0,1						LOW	1	SNV	1		0,1	1										PASS		rs200579827	.												A	2	1	78	101037251	101037251	C	A	1	0	0	0	0	0	0	0	1	9973	610	22	2		2	MUC17	7	101037251	Silent	SNP	C	C3N-01415_TP	3590	101037251	58308722	267	25553											
MUC17	0	.	GRCh38	chr7	101058013	101058013	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttcagatccgaattcAgaggcctcaggtaatgacga	11	11	9	10	2	4	3	3	1	1	2	5	5	5	3	2	2	0	1	2	2	2	4	rs754600840		C3N-01415_TP	C3N-01415_NB	A	A																c.13451A>C	p.Gln4484Pro	p.Q4484P	ENST00000306151	13/13	192	147	45	153	153	0	strelka-varscan-mutect	MUC17,missense_variant,p.Gln4484Pro,ENST00000306151,NM_001040105.1;RN7SKP54,upstream_gene_variant,,ENST00000410704,;MUC17,3_prime_UTR_variant,,ENST00000379439,;MUC17,downstream_gene_variant,,ENST00000497859,;	C	ENST00000306151	Transcript	missense_variant	13515/14247	13451/13482	4484/4493	Q/P	cAg/cCg	rs754600840	1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	deleterious_low_confidence(0)		13/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	MODERATE	1	SNV	1			1										PASS		rs754600840	.												C	3	2	78	101058013	101058013	A	C	1	0	0	0	0	1	0	0	0	9973	188	7	5		5	MUC17	7	101058013	Missense_Mutation	SNP	A	C3N-01415_TP	20762	101058013	58287960	268	25554											
RELN	0	.	GRCh38	chr7	103749479	103749479	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtcaaagtcatctctcagGataatgctgtcactatgtat	12	13	8	8	0	5	0	4	0	1	0	6	2	5	1	0	1	1	2	0	1	4	3			C3N-01415_TP	C3N-01415_NB	G	G																c.603C>A	p.=	p.I201I	ENST00000428762	6/65	448	417	31	482	482	0	strelka-varscan-mutect	RELN,synonymous_variant,p.=,ENST00000424685,;RELN,synonymous_variant,p.=,ENST00000428762,NM_005045.3;RELN,synonymous_variant,p.=,ENST00000343529,NM_173054.2;	T	ENST00000428762	Transcript	synonymous_variant	763/11571	603/10383	201/3460	I	atC/atA	COSM4502050	1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3			6/65		hmmpanther:PTHR11841											1						LOW	1	SNV	5		1	1										PASS		.	.												T	2	4	78	103749479	103749479	G	T	1	0	0	0	0	0	0	0	1	13390	1164	41	2		2	RELN	7	103749479	Silent	SNP	G	C3N-01415_TP	2691466	103749479	55596494	269	25555											
CPED1	0	.	GRCh38	chr7	121099924	121099925	+	Splice_Site	DEL	AG	AG	-																															ctatgtttttttttttttttAggaatgaaacgacagtcctt																								novel		C3N-01415_TP	C3N-01415_NB	AG	AG																c.750-2_750-1delAG		p.X250_splice	ENST00000310396		98	91	7	91	90	1	varindel-pindel	CPED1,splice_acceptor_variant,,ENST00000310396,NM_024913.4;CPED1,splice_acceptor_variant,,ENST00000450913,NM_001105533.1;CPED1,splice_acceptor_variant,,ENST00000428526,;CPED1,splice_acceptor_variant,,ENST00000423795,;CPED1,splice_acceptor_variant,,ENST00000443817,;CPED1,downstream_gene_variant,,ENST00000520801,;	-	ENST00000310396	Transcript	splice_acceptor_variant	-/5340	750/3081	250/1026				1		1	CPED1	HGNC	HGNC:26159	protein_coding	YES	CCDS34739.1	ENSP00000309772	A4D0V7		UPI000013C813	NM_024913.4				6/22																		HIGH	1	deletion	1			1										PASS		.	.												-	8	5	78	121099924	121099924	AG	-	1	0	1	0	1	0	0	1	0	3598	434	15	0		0	CPED1	7	121099924	Splice_Site	DEL	AG	C3N-01415_TP	17350445	121099924	38246049	270	25556											
SND1	0	.	GRCh38	chr7	128089624	128089624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagattccaagggcgatgtgGggctgggcttggtgaaggaa	9	8	18	6	1	0	2	0	1	0	1	1	4	1	3	1	6	0	2	1	6	3	2			C3N-01415_TP	C3N-01415_NB	G	G																c.2554G>A	p.Gly852Arg	p.G852R	ENST00000354725	22/24	329	291	38	318	318	0	strelka-varscan-mutect	SND1,missense_variant,p.Gly852Arg,ENST00000354725,NM_014390.2;SND1,downstream_gene_variant,,ENST00000486037,;SND1,non_coding_transcript_exon_variant,,ENST00000485871,;SND1,downstream_gene_variant,,ENST00000470463,;SND1,non_coding_transcript_exon_variant,,ENST00000489417,;	A	ENST00000354725	Transcript	missense_variant	2748/3476	2554/2733	852/910	G/R	Ggg/Agg	COSM1548348	1		1	SND1	HGNC	HGNC:30646	protein_coding	YES	CCDS34747.1	ENSP00000346762	Q7KZF4	A0A140VK49	UPI00000727E5	NM_014390.2	deleterious(0.02)		22/24		Superfamily_domains:0047647,Gene3D:2.40.50.90,Pfam_domain:PF00565,PIRSF_domain:PIRSF017179,hmmpanther:PTHR12302,hmmpanther:PTHR12302:SF5											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	78	128089624	128089624	G	A	1	0	0	0	0	1	0	0	0	15165	1232	43	3		3	SND1	7	128089624	Missense_Mutation	SNP	G	C3N-01415_TP	6989700	128089624	31256349	271	25557											
FLNC	0	.	GRCh38	chr7	128849337	128849337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgcatggcaggtgcctGcctgggccctcgaatccaga	6	7	12	16	2	0	1	0	0	0	1	3	2	2	1	5	3	2	2	5	3	1	0	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.4958G>T	p.Cys1653Phe	p.C1653F	ENST00000325888	30/48	493	397	96	467	467	0	strelka-varscan-mutect	FLNC,missense_variant,p.Cys1653Phe,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Cys1653Phe,ENST00000346177,NM_001127487.1;RP11-309L24.2,downstream_gene_variant,,ENST00000469965,;	T	ENST00000325888	Transcript	missense_variant	5219/9188	4958/8178	1653/2725	C/F	tGc/tTc		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4	tolerated(0.24)		30/48		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	128849337	128849337	G	T	1	0	0	0	0	1	0	0	0	5791	1319	46	2		2	FLNC	7	128849337	Missense_Mutation	SNP	G	C3N-01415_TP	759713	128849337	30496636	272	25558											
WDR91	0	.	GRCh38	chr7	135209718	135209718	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagccaagtcatacaccTgcattaactgctgcagctgg	10	8	11	12	0	1	0	1	0	0	0	1	0	1	0	2	2	7	5	2	2	3	2	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.161A>C	p.Gln54Pro	p.Q54P	ENST00000354475	2/15	120	105	15	111	111	0	strelka-varscan-mutect	WDR91,missense_variant,p.Gln54Pro,ENST00000354475,NM_014149.3;WDR91,missense_variant,p.Gln19Pro,ENST00000423565,;MIR6509,upstream_gene_variant,,ENST00000614603,;AC009542.2,non_coding_transcript_exon_variant,,ENST00000628498,;AC009542.2,downstream_gene_variant,,ENST00000631295,;WDR91,upstream_gene_variant,,ENST00000485942,;WDR91,non_coding_transcript_exon_variant,,ENST00000466182,;	G	ENST00000354475	Transcript	missense_variant	193/4588	161/2244	54/747	Q/P	cAg/cCg		1		-1	WDR91	HGNC	HGNC:24997	protein_coding	YES	CCDS34758.1	ENSP00000346466	A4D1P6		UPI000006F2DE	NM_014149.3	tolerated(0.12)		2/15		hmmpanther:PTHR13083																	MODERATE	1	SNV	1			1										PASS		rs1375077753	.												G	3	3	78	135209718	135209718	T	G	1	0	0	0	0	1	0	0	0	17894	1580	55	5		5	WDR91	7	135209718	Missense_Mutation	SNP	T	C3N-01415_TP	6360381	135209718	24136255	273	25559											
MTPN	0	.	GRCh38	chr7	135929943	135929943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcactggagaagagcttTgattgcctggttgtcagtgg	8	12	13	8	0	2	3	2	1	0	2	2	4	2	3	2	3	2	2	2	3	1	3	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.340A>G	p.Lys114Glu	p.K114E	ENST00000393085	4/4	301	229	72	329	328	1	strelka-varscan-mutect	MTPN,missense_variant,p.Lys114Glu,ENST00000393085,NM_145808.3;MTPN,missense_variant,p.Lys48Glu,ENST00000435723,;LUZP6,upstream_gene_variant,,ENST00000589735,NM_001128619.2;AC015987.1,intron_variant,,ENST00000419211,;	C	ENST00000393085	Transcript	missense_variant	556/3738	340/357	114/118	K/E	Aaa/Gaa		1		-1	MTPN	HGNC	HGNC:15667	protein_coding	YES	CCDS5842.1	ENSP00000376800	P58546	Q69YG1	UPI00000012BC	NM_145808.3	deleterious(0)		4/4		hmmpanther:PTHR24189:SF26,hmmpanther:PTHR24189,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	135929943	135929943	T	C	1	0	0	0	0	1	0	0	0	9943	1821	63	5		5	MTPN	7	135929943	Missense_Mutation	SNP	T	C3N-01415_TP	720225	135929943	23416030	274	25560											
PTN	0	.	GRCh38	chr7	137253597	137253597	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtgggcacacacacactCcactgccattctccacagtc	9	8	7	17	0	1	0	0	0	1	0	4	0	2	0	3	2	1	1	3	2	0	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.156G>T	p.Trp52Cys	p.W52C	ENST00000348225	3/5	102	83	19	112	112	0	strelka-varscan-mutect	PTN,missense_variant,p.Trp52Cys,ENST00000348225,NM_001321387.1,NM_002825.5;PTN,missense_variant,p.Trp52Cys,ENST00000393083,;	A	ENST00000348225	Transcript	missense_variant	584/1614	156/507	52/168	W/C	tgG/tgT		1		-1	PTN	HGNC	HGNC:9630	protein_coding	YES	CCDS5844.1	ENSP00000341170	P21246	A0A024R778	UPI000013297B	NM_001321387.1,NM_002825.5	deleterious(0)		3/5		Gene3D:1mknA00,PD005592,Pfam_domain:PF05196,Prints_domain:PR00269,PROSITE_patterns:PS00619,hmmpanther:PTHR13850,SMART_domains:SM00193,Superfamily_domains:SSF57288																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	137253597	137253597	C	A	1	0	0	0	0	1	0	0	0	12924	856	30	2		2	PTN	7	137253597	Missense_Mutation	SNP	C	C3N-01415_TP	1323654	137253597	22092376	275	25561											
MGAM	0	.	GRCh38	chr7	142034774	142034774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggttaggagacaacactgCcacctgggatgacctgagat	11	9	12	9	0	0	3	0	2	0	2	0	6	0	4	3	3	2	1	3	3	2	2	rs782592725		C3N-01415_TP	C3N-01415_NB	C	C																c.1892C>A	p.Ala631Asp	p.A631D	ENST00000549489	16/48	185	143	42	240	240	0	strelka-varscan-mutect	MGAM,missense_variant,p.Ala631Asp,ENST00000475668,;MGAM,missense_variant,p.Ala631Asp,ENST00000549489,NM_004668.2;MGAM,missense_variant,p.Ala631Asp,ENST00000620571,;MGAM,downstream_gene_variant,,ENST00000495045,;MGAM,upstream_gene_variant,,ENST00000490593,;	A	ENST00000549489	Transcript	missense_variant	1987/6525	1892/5574	631/1857	A/D	gCc/gAc	rs782592725,COSM2862017,COSM2862018,COSM2862019	1		1	MGAM	HGNC	HGNC:7043	protein_coding	YES	CCDS47727.1	ENSP00000447378	O43451		UPI000183CB7B	NM_004668.2	deleterious(0)		16/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF63,Pfam_domain:PF01055,Superfamily_domains:SSF51445											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs782592725	.												A	3	1	78	142034774	142034774	C	A	1	0	0	0	0	1	0	0	0	9499	739	26	2		2	MGAM	7	142034774	Missense_Mutation	SNP	C	C3N-01415_TP	4781177	142034774	17311199	276	25562											
TRPV6	0	.	GRCh38	chr7	142875536	142875536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttattggtcctgggcttgaGggggcggtagatgcagcaca	7	10	17	7	1	0	2	0	1	0	1	1	2	1	2	1	5	2	5	1	5	2	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1174C>A	p.Leu392Ile	p.L392I	ENST00000359396	8/15	107	97	10	113	113	0	strelka-varscan-mutect	TRPV6,missense_variant,p.Leu392Ile,ENST00000359396,NM_018646.5;TRPV6,intron_variant,,ENST00000436401,;EPHB6,downstream_gene_variant,,ENST00000619012,;EPHB6,downstream_gene_variant,,ENST00000422643,NM_004445.5;EPHB6,downstream_gene_variant,,ENST00000411471,NM_001280794.2,NM_001280795.2;EPHB6,downstream_gene_variant,,ENST00000476059,;TRPV6,downstream_gene_variant,,ENST00000431833,;RP11-114L10.2,upstream_gene_variant,,ENST00000438839,;EPHB6,downstream_gene_variant,,ENST00000617632,;TRPV6,non_coding_transcript_exon_variant,,ENST00000615386,;TRPV6,non_coding_transcript_exon_variant,,ENST00000485138,;TRPV6,non_coding_transcript_exon_variant,,ENST00000619250,;EPHB6,downstream_gene_variant,,ENST00000616380,;EPHB6,downstream_gene_variant,,ENST00000614832,;EPHB6,downstream_gene_variant,,ENST00000611578,;EPHB6,downstream_gene_variant,,ENST00000486511,;TRPV6,downstream_gene_variant,,ENST00000489123,;TRPV6,downstream_gene_variant,,ENST00000474388,;EPHB6,downstream_gene_variant,,ENST00000471581,;	T	ENST00000359396	Transcript	missense_variant	1300/2928	1174/2298	392/765	L/I	Ctc/Atc		1		-1	TRPV6	HGNC	HGNC:14006	protein_coding	YES		ENSP00000352358	Q9H1D0		UPI00064546CC	NM_018646.5	deleterious(0.04)		8/15		hmmpanther:PTHR10582:SF25,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520,Prints_domain:PR01765																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	142875536	142875536	G	T	1	0	0	0	0	1	0	0	0	17106	1000	35	2		2	TRPV6	7	142875536	Missense_Mutation	SNP	G	C3N-01415_TP	840762	142875536	16470437	277	25563											
ARHGEF35	0	.	GRCh38	chr7	144187399	144187399	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttctggcacctgcagctCcctcttcctctcttctccct	2	15	4	20	0	5	0	0	0	5	0	9	0	7	0	4	1	2	3	4	1	0	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.985G>T	p.Glu329Ter	p.E329*	ENST00000378115	2/2	170	118	52	178	177	1	strelka-varscan-mutect	ARHGEF35,stop_gained,p.Glu329Ter,ENST00000378115,NM_001003702.2;CTAGE4,downstream_gene_variant,,ENST00000486333,NM_198495.2;	A	ENST00000378115	Transcript	stop_gained	1115/2431	985/1455	329/484	E/*	Gag/Tag		1		-1	ARHGEF35	HGNC	HGNC:33846	protein_coding	YES	CCDS34770.1	ENSP00000367355	A5YM69		UPI00002373BE	NM_001003702.2			2/2		Pfam_domain:PF15441,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF2																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	78	144187399	144187399	C	A	1	0	0	0	0	0	1	0	0	1039	864	30	2		2	ARHGEF35	7	144187399	Nonsense_Mutation	SNP	C	C3N-01415_TP	1311863	144187399	15158574	278	25564											
SSPO	0	.	GRCh38	chr7	149776353	149776353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatgggcaggcggtggTgtgagtggacagagaccatc	9	7	16	9	1	1	2	1	1	0	1	2	4	1	3	2	5	0	1	2	5	0	0	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.58T>C	p.Cys20Arg	p.C20R	ENST00000378016	2/107	129	113	16	110	110	0	varscan-mutect	SSPO,missense_variant,p.Cys20Arg,ENST00000378016,NM_198455.2;ZNF467,upstream_gene_variant,,ENST00000302017,NM_207336.1;ZNF467,upstream_gene_variant,,ENST00000484747,;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,upstream_gene_variant,,ENST00000486824,;	C	ENST00000378016	Transcript	missense_variant	58/15589	58/15453	20/5150	C/R	Tgt/Cgt		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2	deleterious(0)		2/107																			MODERATE		SNV	5			1										PASS		.	.												C	3	2	78	149776353	149776353	T	C	1	0	0	0	0	1	0	0	0	15566	1696	59	5		5	SSPO	7	149776353	Missense_Mutation	SNP	T	C3N-01415_TP	5588954	149776353	9569620	279	25565											
ZNF775	0	.	GRCh38	chr7	150397128	150397128	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgcgcgcacgcccgggAccgccagggctcccgcgccg	4	1	15	21	9	0	0	0	0	0	0	1	1	1	1	6	2	1	2	6	2	0	0	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.647A>G	p.Asp216Gly	p.D216G	ENST00000329630	3/3	138	126	12	143	143	0	strelka-varscan-mutect	ZNF775,missense_variant,p.Asp216Gly,ENST00000329630,NM_173680.3;ZNF775,downstream_gene_variant,,ENST00000490973,;ZNF775,downstream_gene_variant,,ENST00000478789,;ZNF775,intron_variant,,ENST00000486297,;ZNF775,intron_variant,,ENST00000483664,;	G	ENST00000329630	Transcript	missense_variant	754/2257	647/1614	216/537	D/G	gAc/gGc		1		1	ZNF775	HGNC	HGNC:28501	protein_coding	YES	CCDS43678.1	ENSP00000330838	Q96BV0		UPI00001BDA25	NM_173680.3	tolerated(0.08)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24409																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	150397128	150397128	A	G	1	0	0	0	0	1	0	0	0	18731	275	10	5		5	ZNF775	7	150397128	Missense_Mutation	SNP	A	C3N-01415_TP	620775	150397128	8948845	280	25566											
GIMAP7	0	.	GRCh38	chr7	150520645	150520645	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggttttgaggaaaatctAcactgaccaattaaatgaag	17	10	9	5	0	1	4	0	3	1	1	1	5	1	5	1	2	1	1	1	2	7	4	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.671A>G	p.Tyr224Cys	p.Y224C	ENST00000313543	2/2	268	207	61	291	291	0	strelka-varscan-mutect	GIMAP7,missense_variant,p.Tyr224Cys,ENST00000313543,NM_153236.3;	G	ENST00000313543	Transcript	missense_variant	828/1256	671/903	224/300	Y/C	tAc/tGc		1		1	GIMAP7	HGNC	HGNC:22404	protein_coding	YES	CCDS5903.1	ENSP00000315474	Q8NHV1	A0A090N8P8	UPI0000036B86	NM_153236.3	deleterious(0.03)		2/2		hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF63,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	150520645	150520645	A	G	1	0	0	0	0	1	0	0	0	6264	391	14	5		5	GIMAP7	7	150520645	Missense_Mutation	SNP	A	C3N-01415_TP	123517	150520645	8825328	281	25567											
RBM33	0	.	GRCh38	chr7	155774558	155774558	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttgttttcttcctctaGagtttacagatgcttcctca	6	19	7	9	0	3	2	1	0	2	2	5	2	5	2	2	0	2	4	2	0	2	8	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.3376-1G>T		p.X1126_splice	ENST00000401878		236	187	49	200	200	0	strelka-varscan-mutect	RBM33,splice_acceptor_variant,,ENST00000401878,NM_053043.2;RBM33,splice_acceptor_variant,,ENST00000341148,;RBM33,splice_acceptor_variant,,ENST00000392755,;	T	ENST00000401878	Transcript	splice_acceptor_variant	-/10149	3376/3513	1126/1170				1		1	RBM33	HGNC	HGNC:27223	protein_coding	YES	CCDS5941.2	ENSP00000384160	Q96EV2		UPI00015743D7	NM_053043.2				16/17																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	78	155774558	155774558	G	T	1	0	0	0	0	0	0	1	0	13296	956	33	2		2	RBM33	7	155774558	Splice_Site	SNP	G	C3N-01415_TP	5253913	155774558	3571415	282	25568											
UBE3C	0	.	GRCh38	chr7	157267677	157267677	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaacctgctgaagctcccCgagttctatgacgagacact	11	9	9	12	2	1	4	0	3	1	1	2	6	2	4	3	0	3	3	3	0	3	2	rs147977568		C3N-01415_TP	C3N-01415_NB	C	C																c.3174C>T	p.=	p.P1058P	ENST00000348165	23/23	243	201	42	230	230	0	strelka-varscan-mutect	UBE3C,synonymous_variant,p.=,ENST00000348165,NM_014671.2;UBE3C,non_coding_transcript_exon_variant,,ENST00000470408,;UBE3C,downstream_gene_variant,,ENST00000474153,;RP5-1142J19.2,upstream_gene_variant,,ENST00000428733,;	T	ENST00000348165	Transcript	synonymous_variant	3534/5229	3174/3252	1058/1083	P	ccC/ccT	rs147977568,COSM3305937	1		1	UBE3C	HGNC	HGNC:16803	protein_coding	YES	CCDS34789.1	ENSP00000309198	Q15386		UPI000020E72A	NM_014671.2			23/23		Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF336,SMART_domains:SM00119,Superfamily_domains:SSF56204											0,1						LOW	1	SNV	1		0,1	1										PASS		rs147977568	.												T	2	4	78	157267677	157267677	C	T	1	0	0	0	0	0	0	0	1	17404	639	23	1		1	UBE3C	7	157267677	Silent	SNP	C	C3N-01415_TP	1493119	157267677	2078296	283	25569											
RP1L1	0	.	GRCh38	chr8	10612663	10612663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggcactgtccacccCgtcctccggggtcctggggc	2	7	16	16	2	0	0	0	0	0	0	4	0	4	0	6	7	0	2	6	7	0	0	rs773293580		C3N-01415_TP	C3N-01415_NB	C	C																c.1435G>T	p.Gly479Trp	p.G479W	ENST00000382483	4/4	85	70	15	125	124	1	strelka-varscan-mutect	RP1L1,missense_variant,p.Gly479Trp,ENST00000382483,NM_178857.5;	A	ENST00000382483	Transcript	missense_variant	1659/7973	1435/7203	479/2400	G/W	Ggg/Tgg	rs773293580	1		-1	RP1L1	HGNC	HGNC:15946	protein_coding	YES	CCDS43708.1	ENSP00000371923		A6NKC6	UPI00001AF9CC	NM_178857.5	deleterious(0)		4/4		hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF3																	MODERATE	1	SNV	1			1										PASS		rs773293580	.												A	3	1	78	10612663	10612663	C	A	1	0	0	0	0	1	0	0	0	13773	652	23	1		1	RP1L1	8	10612663	Missense_Mutation	SNP	C	C3N-01415_TP		10612663	134525973	284	25570											
EXTL3	0	.	GRCh38	chr8	28717343	28717343	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaattgctgaagctctcCaccttcgccctcatcattac	8	13	6	14	1	3	1	2	1	1	0	5	2	3	2	3	1	3	2	3	1	3	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1284C>T	p.=	p.S428S	ENST00000220562	3/7	316	267	49	471	471	0	strelka-varscan-mutect	EXTL3,synonymous_variant,p.=,ENST00000220562,NM_001440.3;EXTL3,synonymous_variant,p.=,ENST00000523149,;EXTL3,intron_variant,,ENST00000521532,;EXTL3,upstream_gene_variant,,ENST00000521473,;EXTL3,intron_variant,,ENST00000519886,;EXTL3,downstream_gene_variant,,ENST00000518223,;EXTL3,downstream_gene_variant,,ENST00000522725,;EXTL3,downstream_gene_variant,,ENST00000520940,;EXTL3,downstream_gene_variant,,ENST00000454906,;EXTL3,downstream_gene_variant,,ENST00000519288,;EXTL3,intron_variant,,ENST00000522698,;	T	ENST00000220562	Transcript	synonymous_variant	2186/6483	1284/2760	428/919	S	tcC/tcT		1		1	EXTL3	HGNC	HGNC:3518	protein_coding	YES	CCDS6070.1	ENSP00000220562	O43909		UPI000012A35D	NM_001440.3			3/7		hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF73,Pfam_domain:PF03016																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	28717343	28717343	C	T	1	0	0	0	0	0	0	0	1	5195	581	21	3		3	EXTL3	8	28717343	Silent	SNP	C	C3N-01415_TP	18104680	28717343	116421293	285	25571											
ANK1	0	.	GRCh38	chr8	41704110	41704110	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgtctgtgtgtccctgctgGgctgcctggtgcagggggct	2	12	17	10	0	1	0	0	0	1	0	2	0	2	0	2	4	3	4	2	4	0	0			C3N-01415_TP	C3N-01415_NB	G	G																c.2325C>T	p.=	p.A775A	ENST00000265709	20/43	631	569	62	488	488	0	strelka-varscan-mutect	ANK1,synonymous_variant,p.=,ENST00000289734,NM_000037.3;ANK1,synonymous_variant,p.=,ENST00000347528,NM_020476.2,NM_020475.2,NM_020477.2;ANK1,synonymous_variant,p.=,ENST00000265709,NM_001142446.1;ANK1,synonymous_variant,p.=,ENST00000520299,;	A	ENST00000265709	Transcript	synonymous_variant	2607/6379	2325/5694	775/1897	A	gcC/gcT	COSM3649239,COSM3649240	1		-1	ANK1	HGNC	HGNC:492	protein_coding	YES	CCDS47849.1	ENSP00000265709	P16157		UPI0000E4453A	NM_001142446.1			20/43		Gene3D:1.25.40.20,Pfam_domain:PF13637,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF20,SMART_domains:SM00248,Superfamily_domains:SSF48403											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	78	41704110	41704110	G	A	1	0	0	0	0	0	0	0	1	720	1219	43	3		3	ANK1	8	41704110	Silent	SNP	G	C3N-01415_TP	12986767	41704110	103434526	286	25572											
ANK1	0	.	GRCh38	chr8	41723591	41723591	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagccgcaccatgatcaCgttgcccctgcgggaggcga	8	5	13	15	4	1	1	1	1	0	0	1	3	1	2	4	2	4	3	4	2	0	1	rs140138043		C3N-01415_TP	C3N-01415_NB	C	C																c.853G>C	p.Val285Leu	p.V285L	ENST00000265709	8/43	565	457	108	422	422	0	strelka-varscan-mutect	ANK1,missense_variant,p.Val252Leu,ENST00000289734,NM_000037.3;ANK1,missense_variant,p.Val252Leu,ENST00000347528,NM_020476.2,NM_020475.2,NM_020477.2;ANK1,missense_variant,p.Val285Leu,ENST00000265709,NM_001142446.1;	G	ENST00000265709	Transcript	missense_variant	1135/6379	853/5694	285/1897	V/L	Gtg/Ctg	rs140138043	1		-1	ANK1	HGNC	HGNC:492	protein_coding	YES	CCDS47849.1	ENSP00000265709	P16157		UPI0000E4453A	NM_001142446.1	tolerated(0.15)		8/43		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs140138043	.												G	3	3	78	41723591	41723591	C	G	1	0	0	0	0	1	0	0	0	720	536	19	4		4	ANK1	8	41723591	Missense_Mutation	SNP	C	C3N-01415_TP	19481	41723591	103415045	287	25573											
DKK4	0	.	GRCh38	chr8	42377018	42377018	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggagagcagagccagcTcagccccagcaggacggccg	10	1	16	14	2	1	2	1	0	0	2	1	4	1	3	4	4	5	3	4	4	0	0	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.28A>T	p.Ser10Cys	p.S10C	ENST00000220812	1/4	281	213	68	243	243	0	strelka-varscan-mutect	DKK4,missense_variant,p.Ser10Cys,ENST00000220812,NM_014420.2;	A	ENST00000220812	Transcript	missense_variant	215/894	28/675	10/224	S/C	Agc/Tgc		1		-1	DKK4	HGNC	HGNC:2894	protein_coding	YES	CCDS6130.1	ENSP00000220812	Q9UBT3		UPI0000051057	NM_014420.2	tolerated(0.12)		1/4		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12113,hmmpanther:PTHR12113:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	42377018	42377018	T	A	1	0	0	0	0	1	0	0	0	4353	1551	54	4		4	DKK4	8	42377018	Missense_Mutation	SNP	T	C3N-01415_TP	653427	42377018	102761618	288	25574											
RUNX1T1	0	.	GRCh38	chr8	91991740	91991740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccaaacggtaatgctgaGgtggaggtggggtagggtga	10	8	18	5	1	0	2	0	2	0	0	1	3	1	3	1	7	2	3	1	7	3	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1067C>T	p.Pro356Leu	p.P356L	ENST00000436581	7/12	420	396	24	366	366	0	strelka-varscan-mutect	RUNX1T1,missense_variant,p.Pro297Leu,ENST00000613302,NM_001198630.1,NM_001198627.1;RUNX1T1,missense_variant,p.Pro297Leu,ENST00000617740,NM_001198629.1,NM_001198626.1;RUNX1T1,missense_variant,p.Pro297Leu,ENST00000523629,NM_175634.2;RUNX1T1,missense_variant,p.Pro297Leu,ENST00000614812,NM_001198631.1;RUNX1T1,missense_variant,p.Pro356Leu,ENST00000436581,NM_001198679.1;RUNX1T1,missense_variant,p.Pro270Leu,ENST00000613886,NM_001198632.1;RUNX1T1,missense_variant,p.Pro277Leu,ENST00000615601,NM_001198633.1;RUNX1T1,missense_variant,p.Pro297Leu,ENST00000265814,NM_001198628.1;RUNX1T1,missense_variant,p.Pro270Leu,ENST00000396218,NM_004349.3;RUNX1T1,missense_variant,p.Pro270Leu,ENST00000518844,NM_001198625.1;RUNX1T1,missense_variant,p.Pro260Leu,ENST00000422361,NM_175636.2;RUNX1T1,missense_variant,p.Pro260Leu,ENST00000360348,NM_175635.2;RUNX1T1,missense_variant,p.Pro308Leu,ENST00000520724,NM_001198634.1;RUNX1T1,3_prime_UTR_variant,,ENST00000520978,;RUNX1T1,3_prime_UTR_variant,,ENST00000518361,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000520047,;RUNX1T1,upstream_gene_variant,,ENST00000521751,;	A	ENST00000436581	Transcript	missense_variant	1254/7454	1067/1992	356/663	P/L	cCt/cTt		1		-1	RUNX1T1	HGNC	HGNC:1535	protein_coding	YES	CCDS75766.1	ENSP00000402257		A0A0A0MSU1	UPI0001E7B0BD	NM_001198679.1	tolerated(0.53)		7/12		Low_complexity_(Seg):seg,hmmpanther:PTHR10379:SF5,hmmpanther:PTHR10379																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	78	91991740	91991740	G	A	1	0	0	0	0	1	0	0	0	14008	1000	35	3		3	RUNX1T1	8	91991740	Missense_Mutation	SNP	G	C3N-01415_TP	49614722	91991740	53146896	289	25575											
CDH17	0	.	GRCh38	chr8	94151951	94151951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcctcactgactttcgcttgGaatacgtgttgggaaaattg	9	14	10	8	2	1	1	1	1	0	0	3	3	2	3	1	2	1	2	1	2	4	5			C3N-01415_TP	C3N-01415_NB	G	G																c.1713C>G	p.Phe571Leu	p.F571L	ENST00000027335	13/18	572	523	49	582	582	0	strelka-varscan-mutect	CDH17,missense_variant,p.Phe571Leu,ENST00000027335,NM_004063.3;CDH17,missense_variant,p.Phe571Leu,ENST00000450165,NM_001144663.1;CDH17,missense_variant,p.Phe357Leu,ENST00000441892,;CDH17,intron_variant,,ENST00000520952,;	C	ENST00000027335	Transcript	missense_variant	1838/3693	1713/2499	571/832	F/L	ttC/ttG	COSM3651876	1		-1	CDH17	HGNC	HGNC:1756	protein_coding	YES	CCDS6260.1	ENSP00000027335	Q12864		UPI000013C546	NM_004063.3	tolerated(0.27)		13/18		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF292,Superfamily_domains:SSF49313											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	78	94151951	94151951	G	C	1	0	0	0	0	1	0	0	0	2805	1165	41	4		4	CDH17	8	94151951	Missense_Mutation	SNP	G	C3N-01415_TP	2160211	94151951	50986685	290	25576											
CPQ	0	.	GRCh38	chr8	96879805	96879805	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctctcaagtcctcacAcaggtattcaggaataccag	11	12	6	12	0	5	0	3	0	2	0	7	1	6	1	2	2	1	1	2	2	4	5	rs147764297		C3N-01415_TP	C3N-01415_NB	A	A																c.649A>C	p.Thr217Pro	p.T217P	ENST00000220763	4/8	281	256	25	287	287	0	strelka-varscan-mutect	CPQ,missense_variant,p.Thr217Pro,ENST00000220763,NM_016134.3;	C	ENST00000220763	Transcript	missense_variant	859/1947	649/1419	217/472	T/P	Aca/Cca	rs147764297	1		1	CPQ	HGNC	HGNC:16910	protein_coding	YES	CCDS6273.1	ENSP00000220763	Q9Y646	A0A024R9B8	UPI00000706B8	NM_016134.3	deleterious(0)		4/8		hmmpanther:PTHR12053,hmmpanther:PTHR12053:SF3,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		rs147764297	.												C	3	2	78	96879805	96879805	A	C	1	0	0	0	0	1	0	0	0	3618	159	6	5		5	CPQ	8	96879805	Missense_Mutation	SNP	A	C3N-01415_TP	2727854	96879805	48258831	291	25577											
KCNS2	0	.	GRCh38	chr8	98428432	98428432	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtcttccttcgatgagatCcttgccttctacaacgacgc	8	12	7	14	4	2	1	0	1	2	1	5	4	4	1	3	0	3	0	3	0	2	5	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.453C>A	p.=	p.I151I	ENST00000287042	2/2	524	478	46	491	490	1	strelka-varscan-mutect	KCNS2,synonymous_variant,p.=,ENST00000287042,NM_020697.2;KCNS2,synonymous_variant,p.=,ENST00000521839,;STK3,intron_variant,,ENST00000517832,;	A	ENST00000287042	Transcript	synonymous_variant	803/5219	453/1434	151/477	I	atC/atA		1		1	KCNS2	HGNC	HGNC:6301	protein_coding	YES	CCDS6279.1	ENSP00000287042	Q9ULS6		UPI0000001653	NM_020697.2			2/2		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF60																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	98428432	98428432	C	A	1	0	0	0	0	0	0	0	1	8005	845	30	2		2	KCNS2	8	98428432	Silent	SNP	C	C3N-01415_TP	1548627	98428432	46710204	292	25578											
RIMS2	0	.	GRCh38	chr8	103936688	103936688	+	Missense_Mutation	SNP	G	G	T																															taccctttgggatcaagctcGtgttcgagaggaagaaagtg																								rs766328696		C3N-01415_TP	C3N-01415_NB	G	G																c.2513G>T	p.Arg838Leu	p.R838L	ENST00000504942	13/24	154	140	14	158	158	0	strelka-varscan-mutect	RIMS2,missense_variant,p.Arg630Leu,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Arg616Leu,ENST00000436393,;RIMS2,missense_variant,p.Arg838Leu,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Arg780Leu,ENST00000626043,;RIMS2,missense_variant,p.Arg630Leu,ENST00000408894,;RIMS2,missense_variant,p.Arg677Leu,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Arg826Leu,ENST00000632716,;RIMS2,missense_variant,p.Arg232Leu,ENST00000507677,;RIMS2,missense_variant,p.Arg630Leu,ENST00000515551,;	T	ENST00000504942	Transcript	missense_variant	2652/4228	2513/4050	838/1349	R/L	cGt/cTt	rs766328696,COSM3395036,COSM3395037,COSM3395038,COSM3395039,COSM3395040	1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0)		13/24		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15,SMART_domains:SM00239,Superfamily_domains:SSF49562											0,1,1,1,1,1						MODERATE	1	SNV	2		0,1,1,1,1,1	1										PASS		rs766328696	.												T	3	4	78	103936688	103936688	G	T	1	0	0	0	0	1	0	0	0	13543	1145	40	1		1	RIMS2	8	103936688	Missense_Mutation	SNP	G	C3N-01415_TP	5508256	103936688	41201948	293	25579	541	2									
RIMS2	0	.	GRCh38	chr8	103936690	103936690	+	Missense_Mutation	SNP	G	G	T																															ccctttgggatcaagctcgtGttcgagaggaagaaagtgaa																								rs774233059		C3N-01415_TP	C3N-01415_NB	G	G																c.2515G>T	p.Val839Phe	p.V839F	ENST00000504942	13/24	156	142	14	152	152	0	strelka-varscan-mutect	RIMS2,missense_variant,p.Val631Phe,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Val617Phe,ENST00000436393,;RIMS2,missense_variant,p.Val839Phe,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Val781Phe,ENST00000626043,;RIMS2,missense_variant,p.Val631Phe,ENST00000408894,;RIMS2,missense_variant,p.Val678Phe,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Val827Phe,ENST00000632716,;RIMS2,missense_variant,p.Val233Phe,ENST00000507677,;RIMS2,missense_variant,p.Val631Phe,ENST00000515551,;	T	ENST00000504942	Transcript	missense_variant	2654/4228	2515/4050	839/1349	V/F	Gtt/Ttt	rs774233059	1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0)		13/24		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	2			1										PASS		rs774233059	.												T	3	4	78	103936690	103936690	G	T	1	0	0	0	0	1	0	0	0	13543	1377	48	2		2	RIMS2	8	103936690	Missense_Mutation	SNP	G	C3N-01415_TP	2	103936690	41201946	294	25580	541	2									
RIMS2	0	.	GRCh38	chr8	104251818	104251818	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccttcttactctcgttcaTagcagctgtaaaaaaattgt	12	14	6	9	1	3	0	1	0	2	0	4	1	3	0	1	0	3	4	1	0	6	6	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.4048T>C	p.Ter1350GlnextTer3	p.*1350Qext*3	ENST00000504942	24/24	160	111	49	175	175	0	strelka-varscan-mutect	RIMS2,stop_lost,p.Ter1164GlnextTer3,ENST00000507740,NM_014677.4;RIMS2,stop_lost,p.Ter1368GlnextTer3,ENST00000436393,;RIMS2,stop_lost,p.Ter1350GlnextTer3,ENST00000504942,NM_001100117.2;RIMS2,stop_lost,p.Ter1189GlnextTer3,ENST00000262231,NM_001282881.1;RIMS2,stop_lost,p.Ter286GlnextTer3,ENST00000339750,NM_001282882.1;RIMS2,downstream_gene_variant,,ENST00000626043,;RIMS2,downstream_gene_variant,,ENST00000408894,;RIMS2,downstream_gene_variant,,ENST00000523362,;	C	ENST00000504942	Transcript	stop_lost	4187/4228	4048/4050	1350/1349	*/Q	Tag/Cag		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2			24/24																			HIGH	1	SNV	2			1										PASS		rs766810783	.												C	4	2	78	104251818	104251818	T	C	1	0	0	0	0	0	0	0	0	13543	1419	49	5		5	RIMS2	8	104251818	Nonstop_Mutation	SNP	T	C3N-01415_TP	315128	104251818	40886818	295	25581											
TRPS1	0	.	GRCh38	chr8	115587392	115587392	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cactctcagaaactggctctCccattttagagtctggagtt	9	13	8	11	0	3	2	1	0	3	2	5	3	3	3	1	2	1	2	1	2	2	3			C3N-01415_TP	C3N-01415_NB	C	C																c.2309G>C	p.Gly770Ala	p.G770A	ENST00000395715	5/7	798	753	45	775	775	0	strelka-varscan-mutect	TRPS1,missense_variant,p.Gly770Ala,ENST00000395715,NM_014112.4,NM_001282903.2;TRPS1,missense_variant,p.Gly757Ala,ENST00000220888,;TRPS1,missense_variant,p.Gly761Ala,ENST00000520276,NM_001282902.2;TRPS1,missense_variant,p.Gly511Ala,ENST00000519076,;TRPS1,missense_variant,p.Gly757Ala,ENST00000519674,;TRPS1,missense_variant,p.Gly561Ala,ENST00000517323,;	G	ENST00000395715	Transcript	missense_variant	2887/9990	2309/3885	770/1294	G/A	gGa/gCa	COSM3663523,COSM3663524	1		-1	TRPS1	HGNC	HGNC:12340	protein_coding	YES	CCDS6318.2	ENSP00000379065	Q9UHF7		UPI00002104B8	NM_014112.4,NM_001282903.2	tolerated_low_confidence(0.81)		5/7		hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF176											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	78	115587392	115587392	C	G	1	0	0	0	0	1	0	0	0	17099	855	30	4		4	TRPS1	8	115587392	Missense_Mutation	SNP	C	C3N-01415_TP	11335574	115587392	29551244	296	25582											
NOV	0	.	GRCh38	chr8	119418191	119418191	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgctgtcagctggatgtGctactgcctgagcctaactg	6	10	11	14	1	1	1	1	1	0	0	1	2	1	2	4	1	6	3	4	1	2	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.444G>T	p.=	p.V148V	ENST00000259526	3/5	428	400	28	442	442	0	strelka-varscan-mutect	NOV,synonymous_variant,p.=,ENST00000259526,NM_002514.3;RP11-775B15.2,downstream_gene_variant,,ENST00000519786,;NOV,downstream_gene_variant,,ENST00000520082,;	T	ENST00000259526	Transcript	synonymous_variant	671/2522	444/1074	148/357	V	gtG/gtT		1		1	NOV	HGNC	HGNC:7885	protein_coding	YES	CCDS6328.1	ENSP00000259526	P48745	A0A024R9J4	UPI00001303BE	NM_002514.3			3/5		PROSITE_profiles:PS50184,hmmpanther:PTHR11348:SF8,hmmpanther:PTHR11348,PROSITE_patterns:PS01208,PIRSF_domain:PIRSF036495,Pfam_domain:PF00093,SMART_domains:SM00214,Superfamily_domains:SSF57603																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	119418191	119418191	G	T	1	0	0	0	0	0	0	0	1	10599	1306	46	2		2	NOV	8	119418191	Silent	SNP	G	C3N-01415_TP	3830799	119418191	25720445	297	25583											
TMEM65	0	.	GRCh38	chr8	124320103	124320103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaaatgtgtactaagacGtgtttgccacatgtcaactt	12	13	7	9	1	1	1	1	0	0	1	1	1	1	1	2	0	4	2	2	0	5	5	rs779556138		C3N-01415_TP	C3N-01415_NB	G	G																c.604C>T	p.Arg202Cys	p.R202C	ENST00000297632	6/7	274	251	23	221	221	0	strelka-varscan-mutect	TMEM65,missense_variant,p.Arg202Cys,ENST00000297632,NM_194291.2;	A	ENST00000297632	Transcript	missense_variant	1139/9029	604/723	202/240	R/C	Cgt/Tgt	rs779556138,COSM247904	1		-1	TMEM65	HGNC	HGNC:25203	protein_coding	YES	CCDS6348.1	ENSP00000297632	Q6PI78		UPI00003675D1	NM_194291.2	deleterious(0)		6/7		Pfam_domain:PF10507,hmmpanther:PTHR21706											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs779556138	.												A	3	1	78	124320103	124320103	G	A	1	0	0	0	0	1	0	0	0	16670	1145	40	1		1	TMEM65	8	124320103	Missense_Mutation	SNP	G	C3N-01415_TP	4901912	124320103	20818533	298	25584											
SLC45A4	0	.	GRCh38	chr8	141215822	141215822	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggagatgctcatggagacGatgcccatggtgctgatggt	9	10	15	7	1	1	3	1	1	0	2	1	6	1	3	1	4	3	2	1	4	1	1			C3N-01415_TP	C3N-01415_NB	G	G																c.1878C>T	p.=	p.I626I	ENST00000517878	6/8	674	634	40	500	500	0	strelka-varscan-mutect	SLC45A4,synonymous_variant,p.=,ENST00000519067,NM_001286648.1;SLC45A4,synonymous_variant,p.=,ENST00000024061,NM_001080431.2;SLC45A4,synonymous_variant,p.=,ENST00000517878,NM_001286646.1;SLC45A4,downstream_gene_variant,,ENST00000520137,;SLC45A4,downstream_gene_variant,,ENST00000519986,;	A	ENST00000517878	Transcript	synonymous_variant	1878/3470	1878/2427	626/808	I	atC/atT	COSM377312	1		-1	SLC45A4	HGNC	HGNC:29196	protein_coding	YES	CCDS75795.1	ENSP00000428137		E7EV90	UPI0001E8F5C7	NM_001286646.1			6/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR19432,hmmpanther:PTHR19432:SF7,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473											1						LOW	1	SNV	1		1	1										PASS		rs1418560621	.												A	2	1	78	141215822	141215822	G	A	1	0	0	0	0	0	0	0	1	14920	1048	37	1		1	SLC45A4	8	141215822	Silent	SNP	G	C3N-01415_TP	16895719	141215822	3922814	299	25585											
TSNARE1	0	.	GRCh38	chr8	142314383	142314383	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtcagtactcggcacccaCctgtttactgcccctctgcg	5	11	9	16	2	2	0	1	0	1	0	3	0	2	0	4	2	4	3	4	2	2	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1131+1G>T		p.X377_splice	ENST00000524325		284	257	27	243	242	1	strelka-varscan-mutect	TSNARE1,splice_donor_variant,,ENST00000519651,NM_001291931.1;TSNARE1,splice_donor_variant,,ENST00000524325,NM_145003.4;TSNARE1,splice_donor_variant,,ENST00000307180,;TSNARE1,splice_donor_variant,,ENST00000520166,;TSNARE1,splice_donor_variant,,ENST00000518928,;	A	ENST00000524325	Transcript	splice_donor_variant	-/1963	1131/1542	377/513				1		-1	TSNARE1	HGNC	HGNC:26437	protein_coding	YES	CCDS6384.1	ENSP00000428763	Q96NA8		UPI00001AEE5E	NM_145003.4				9/13																		HIGH	1	SNV	2			1										PASS		rs1241789175	.												A	5	1	78	142314383	142314383	C	A	1	0	0	0	0	0	0	1	0	17135	521	18	2		2	TSNARE1	8	142314383	Splice_Site	SNP	C	C3N-01415_TP	1098561	142314383	2824253	300	25586											
CYP11B1	0	.	GRCh38	chr8	142875124	142875124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacaaggcggggttgcgacCcagagagtagaggaacacgc	13	3	16	9	3	0	2	0	0	0	2	0	6	0	3	1	4	3	2	1	4	4	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1231G>C	p.Gly411Arg	p.G411R	ENST00000292427	8/9	604	549	55	558	558	0	strelka-varscan-mutect	CYP11B1,missense_variant,p.Gly411Arg,ENST00000292427,NM_000497.3;CYP11B1,missense_variant,p.Gly89Arg,ENST00000519285,;CYP11B1,missense_variant,p.Gly482Arg,ENST00000377675,;CYP11B1,intron_variant,,ENST00000517471,NM_001026213.1;GML,intron_variant,,ENST00000522728,;CYP11B1,intron_variant,,ENST00000314111,;	G	ENST00000292427	Transcript	missense_variant	1264/2664	1231/1512	411/503	G/R	Ggt/Cgt		1		-1	CYP11B1	HGNC	HGNC:2591	protein_coding	YES	CCDS6392.1	ENSP00000292427	P15538		UPI000013E0BA	NM_000497.3	deleterious(0)		8/9		hmmpanther:PTHR24279,hmmpanther:PTHR24279:SF46,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	142875124	142875124	C	G	1	0	0	0	0	1	0	0	0	3948	623	22	4		4	CYP11B1	8	142875124	Missense_Mutation	SNP	C	C3N-01415_TP	560741	142875124	2263512	301	25587											
MROH1	0	.	GRCh38	chr8	144261684	144261711	+	Frame_Shift_Del	DEL	CCCGAGGTGCGGACGAGGGCTGCTGAGG	CCCGAGGTGCGGACGAGGGCTGCTGAGG	-																															tcctgctgaaggacccggccCccgaggtgcggacgagggct																								novel		C3N-01415_TP	C3N-01415_NB	CCCGAGGTGCGGACGAGGGCTGCTGAGG	CCCGAGGTGCGGACGAGGGCTGCTGAGG																c.4873_4900delGAGGTGCGGACGAGGGCTGCTGAGGCCC	p.Glu1625TrpfsTer5	p.E1625Wfs*5	ENST00000528919	43/43	593	456	137	540	540	0	sindel-varindel-pindel	MROH1,frameshift_variant,p.Glu1625TrpfsTer5,ENST00000528919,NM_032450.2;MROH1,frameshift_variant,p.Glu1625TrpfsTer5,ENST00000326134,;MROH1,frameshift_variant,p.Glu1616TrpfsTer5,ENST00000534366,NM_001288814.1;MROH1,coding_sequence_variant,,ENST00000544576,;BOP1,downstream_gene_variant,,ENST00000569669,NM_015201.4;SCX,upstream_gene_variant,,ENST00000567180,NM_001080514.2;BOP1,downstream_gene_variant,,ENST00000569403,;BOP1,downstream_gene_variant,,ENST00000616126,;BOP1,downstream_gene_variant,,ENST00000563210,;BOP1,downstream_gene_variant,,ENST00000568812,;BOP1,downstream_gene_variant,,ENST00000569160,;	-	ENST00000528919	Transcript	frameshift_variant	4991-5018/5234	4870-4897/4926	1624-1633/1641	PEVRTRAAEA/X	CCCGAGGTGCGGACGAGGGCTGCTGAGGcc/cc		1		1	MROH1	HGNC	HGNC:26958	protein_coding	YES	CCDS47938.1	ENSP00000435565	Q8NDA8		UPI0001AE6FA6	NM_032450.2			43/43		PROSITE_profiles:PS50077,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF13,Gene3D:1.25.10.10,Pfam_domain:PF02985,Superfamily_domains:SSF48371																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	78	144261684	144261684	CCCGAGGTGCGGACGAGGGCTGCTGAGG	-	1	0	1	0	1	0	0	0	0	9743	623	22	0		0	MROH1	8	144261684	Frame_Shift_Del	DEL	CCCGAGGTGCGGACGAGGGCTGCTGAGG	C3N-01415_TP	1386560	144261684	876952	302	25588											
RPL8	0	.	GRCh38	chr8	144791801	144791801	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaatacacaaactggccCgtgtgaatgccctcggcggc	9	6	11	15	4	0	1	0	1	0	0	1	1	0	1	3	3	3	1	3	3	4	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.252G>T	p.=	p.T84T	ENST00000262584	3/6	315	270	45	250	249	1	strelka-varscan-mutect	RPL8,synonymous_variant,p.=,ENST00000262584,NM_000973.3;RPL8,synonymous_variant,p.=,ENST00000528957,NM_001317782.1;RPL8,synonymous_variant,p.=,ENST00000394920,NM_001317771.1,NM_033301.1;RPL8,synonymous_variant,p.=,ENST00000532702,;RPL8,synonymous_variant,p.=,ENST00000533397,;RPL8,intron_variant,,ENST00000527914,;ZNF34,upstream_gene_variant,,ENST00000429371,NM_001286769.1;ZNF34,upstream_gene_variant,,ENST00000343459,NM_030580.4;ZNF34,upstream_gene_variant,,ENST00000534445,NM_001286770.1;RPL8,downstream_gene_variant,,ENST00000612162,;RPL8,intron_variant,,ENST00000529163,;RPL8,intron_variant,,ENST00000528296,;RPL8,missense_variant,p.Arg47Leu,ENST00000531975,;RPL8,synonymous_variant,p.=,ENST00000529920,;RPL8,non_coding_transcript_exon_variant,,ENST00000525232,;RPL8,non_coding_transcript_exon_variant,,ENST00000526668,;RPL8,non_coding_transcript_exon_variant,,ENST00000531767,;ZNF34,upstream_gene_variant,,ENST00000527740,;RPL8,upstream_gene_variant,,ENST00000534781,;	A	ENST00000262584	Transcript	synonymous_variant	485/1041	252/774	84/257	T	acG/acT		1		-1	RPL8	HGNC	HGNC:10368	protein_coding	YES	CCDS6433.1	ENSP00000262584	P62917		UPI000000419E	NM_000973.3			3/6		Gene3D:2.40.50.140,HAMAP:MF_01320_A,Pfam_domain:PF00181,PIRSF_domain:PIRSF002158,hmmpanther:PTHR13691,hmmpanther:PTHR13691:SF16,SMART_domains:SM01383,Superfamily_domains:SSF50249																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	144791801	144791801	C	A	1	0	0	0	0	0	0	0	1	13855	639	23	1		1	RPL8	8	144791801	Silent	SNP	C	C3N-01415_TP	530117	144791801	346835	303	25589											
CCDC171	0	.	GRCh38	chr9	15623349	15623349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactgctctgaccttttacGgcgacaaacaagtgaacttg	11	10	10	10	2	1	2	0	2	1	0	1	4	1	3	1	2	4	1	1	2	4	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.758G>T	p.Arg253Leu	p.R253L	ENST00000380701	7/26	164	136	28	253	253	0	strelka-varscan-mutect	CCDC171,missense_variant,p.Arg253Leu,ENST00000380701,NM_173550.2;CCDC171,missense_variant,p.Arg253Leu,ENST00000535968,;	T	ENST00000380701	Transcript	missense_variant	1086/6512	758/3981	253/1326	R/L	cGg/cTg		1		1	CCDC171	HGNC	HGNC:29828	protein_coding	YES	CCDS6481.1	ENSP00000370077	Q6TFL3		UPI000021C44B	NM_173550.2	tolerated(0.06)		7/26		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF388																	MODERATE	1	SNV	1			1										PASS		rs1014327388	.												T	3	4	78	15623349	15623349	G	T	1	0	0	0	0	1	0	0	0	2488	1116	39	1		1	CCDC171	9	15623349	Missense_Mutation	SNP	G	C3N-01415_TP		15623349	122771368	304	25590											
BNC2	0	.	GRCh38	chr9	16436298	16436298	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgcttgacttcctgggCtttttcttgggtgccaggtc	3	15	13	10	0	1	1	0	1	1	0	3	1	2	1	2	4	2	3	2	4	0	5	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1896G>T	p.Lys632Asn	p.K632N	ENST00000380672	6/7	370	294	76	546	546	0	strelka-varscan-mutect	BNC2,missense_variant,p.Lys632Asn,ENST00000380672,NM_001317940.1,NM_017637.5;BNC2,missense_variant,p.Lys458Asn,ENST00000545497,;BNC2,missense_variant,p.Lys589Asn,ENST00000418777,;BNC2,missense_variant,p.Lys565Asn,ENST00000380667,;BNC2,missense_variant,p.Lys25Asn,ENST00000411752,;BNC2,downstream_gene_variant,,ENST00000380666,;BNC2,downstream_gene_variant,,ENST00000603713,;BNC2,missense_variant,p.Lys632Asn,ENST00000484726,;	A	ENST00000380672	Transcript	missense_variant	1954/12844	1896/3300	632/1099	K/N	aaG/aaT		1		-1	BNC2	HGNC	HGNC:30988	protein_coding	YES	CCDS6482.2	ENSP00000370047	Q6ZN30		UPI000035E7B0	NM_001317940.1,NM_017637.5	deleterious(0)		6/7		hmmpanther:PTHR15021:SF2,hmmpanther:PTHR15021																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	78	16436298	16436298	C	A	1	0	0	0	0	1	0	0	0	1631	796	28	2		2	BNC2	9	16436298	Missense_Mutation	SNP	C	C3N-01415_TP	812949	16436298	121958419	305	25591											
SPATA31A3	0	.	GRCh38	chr9	66988397	66988397	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcctcaagttcctttccaActcctcagaagtcaccccca	9	11	3	18	0	3	1	3	0	0	1	7	1	7	1	6	0	1	1	6	0	3	3	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.2101T>C	p.=	p.L701L	ENST00000428649	4/4	388	319	69	509	509	0	strelka-varscan-mutect	SPATA31A3,synonymous_variant,p.=,ENST00000428649,NM_001083124.1;RP11-395E19.2,downstream_gene_variant,,ENST00000616253,;	G	ENST00000428649	Transcript	synonymous_variant	2163/4256	2101/4044	701/1347	L	Ttg/Ctg		1		-1	SPATA31A3	HGNC	HGNC:32003	protein_coding	YES	CCDS78400.1	ENSP00000485118	Q5VYP0		UPI00004588FC	NM_001083124.1			4/4		Pfam_domain:PF14650,hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	78	66988397	66988397	A	G	1	0	0	0	0	0	0	0	1	15344	40	2	5		5	SPATA31A3	9	66988397	Silent	SNP	A	C3N-01415_TP	50552099	66988397	71406320	306	25592											
SPATA31A3	0	.	GRCh38	chr9	66990092	66990092	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataggctcatgagaggactGggaggctccatcaggtgctc	9	8	14	10	0	2	1	2	1	0	1	4	4	3	3	1	5	1	3	1	5	1	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.406C>T	p.Gln136Ter	p.Q136*	ENST00000428649	4/4	1021	908	113	1260	1260	0	varscan-mutect	SPATA31A3,stop_gained,p.Gln136Ter,ENST00000428649,NM_001083124.1;RP11-395E19.2,downstream_gene_variant,,ENST00000616253,;	A	ENST00000428649	Transcript	stop_gained	468/4256	406/4044	136/1347	Q/*	Cag/Tag		1		-1	SPATA31A3	HGNC	HGNC:32003	protein_coding	YES	CCDS78400.1	ENSP00000485118	Q5VYP0		UPI00004588FC	NM_001083124.1			4/4		Pfam_domain:PF15371,hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	78	66990092	66990092	G	A	1	0	0	0	0	0	1	0	0	15344	1357	47	3		3	SPATA31A3	9	66990092	Nonsense_Mutation	SNP	G	C3N-01415_TP	1695	66990092	71404625	307	25593											
TRPM6	0	.	GRCh38	chr9	74827827	74827827	+	Missense_Mutation	SNP	C	C	A																															ttctccaggttccttctgagCttcatttcatttccatactt																								novel		C3N-01415_TP	C3N-01415_NB	C	C																c.792G>T	p.Lys264Asn	p.K264N	ENST00000360774	7/39	458	363	95	585	585	0	strelka-varscan-mutect	TRPM6,missense_variant,p.Lys264Asn,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Lys259Asn,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Lys259Asn,ENST00000449912,NM_001177310.1;TRPM6,missense_variant,p.Lys264Asn,ENST00000359047,;TRPM6,non_coding_transcript_exon_variant,,ENST00000483186,;	A	ENST00000360774	Transcript	missense_variant	1030/8425	792/6069	264/2022	K/N	aaG/aaT		1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4	tolerated(0.19)		7/39		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	74827827	74827827	C	A	1	0	0	0	0	1	0	0	0	17096	796	28	2		2	TRPM6	9	74827827	Missense_Mutation	SNP	C	C3N-01415_TP	7837735	74827827	63566890	308	25594	542	2									
TRPM6	0	.	GRCh38	chr9	74827829	74827829	+	Missense_Mutation	SNP	T	T	C																															ctccaggttccttctgagctTcatttcatttccatacttgc																								novel		C3N-01415_TP	C3N-01415_NB	T	T																c.790A>G	p.Lys264Glu	p.K264E	ENST00000360774	7/39	458	362	96	584	584	0	strelka-varscan-mutect	TRPM6,missense_variant,p.Lys264Glu,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Lys259Glu,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Lys259Glu,ENST00000449912,NM_001177310.1;TRPM6,missense_variant,p.Lys264Glu,ENST00000359047,;TRPM6,non_coding_transcript_exon_variant,,ENST00000483186,;	C	ENST00000360774	Transcript	missense_variant	1028/8425	790/6069	264/2022	K/E	Aag/Gag		1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4	tolerated(0.17)		7/39		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	74827829	74827829	T	C	1	0	0	0	0	1	0	0	0	17096	1792	62	5		5	TRPM6	9	74827829	Missense_Mutation	SNP	T	C3N-01415_TP	2	74827829	63566888	309	25595	542	2									
NTRK2	0	.	GRCh38	chr9	85021432	85021432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtctacctggacattctaGgctagggcccttttccccag	6	11	10	14	1	2	0	0	0	2	0	3	1	3	1	4	4	1	1	4	4	3	6	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2512G>T	p.Gly838Cys	p.G838C	ENST00000277120	19/19	514	455	59	621	621	0	strelka-varscan-mutect	NTRK2,missense_variant,p.Gly838Cys,ENST00000277120,;NTRK2,missense_variant,p.Gly838Cys,ENST00000376214,NM_006180.4;NTRK2,missense_variant,p.Gly822Cys,ENST00000376213,;NTRK2,missense_variant,p.Gly822Cys,ENST00000323115,NM_001018064.2;	T	ENST00000277120	Transcript	missense_variant	2995/8633	2512/2517	838/838	G/C	Ggc/Tgc		1		1	NTRK2	HGNC	HGNC:8032	protein_coding	YES	CCDS6671.1	ENSP00000277120	Q16620	A0A024R230	UPI000006FA0D		deleterious(0)		19/19																			MODERATE	1	SNV	1			1										PASS		rs1229826541	.												T	3	4	78	85021432	85021432	G	T	1	0	0	0	0	1	0	0	0	10773	1000	35	2		2	NTRK2	9	85021432	Missense_Mutation	SNP	G	C3N-01415_TP	10193603	85021432	53373285	310	25596											
CDK20	0	.	GRCh38	chr9	87970810	87970810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgtagaggcggctgcCgtctggggaaaagactcgag	8	8	18	7	3	1	2	0	0	1	2	2	4	1	3	1	4	1	2	1	4	3	1	rs141798102		C3N-01415_TP	C3N-01415_NB	C	C																c.466G>T	p.Gly156Cys	p.G156C	ENST00000325303	4/8	233	209	24	246	246	0	strelka-varscan-mutect	CDK20,missense_variant,p.Gly156Cys,ENST00000375883,NM_012119.4;CDK20,missense_variant,p.Gly169Cys,ENST00000336654,NM_178432.3;CDK20,missense_variant,p.Gly156Cys,ENST00000325303,NM_001039803.2;CDK20,missense_variant,p.Gly156Cys,ENST00000375871,NM_001170640.1;CDK20,missense_variant,p.Gly156Cys,ENST00000605159,NM_001170639.1;CDK20,non_coding_transcript_exon_variant,,ENST00000603475,;CDK20,non_coding_transcript_exon_variant,,ENST00000459720,;CDK20,non_coding_transcript_exon_variant,,ENST00000486228,;CDK20,non_coding_transcript_exon_variant,,ENST00000604175,;CDK20,downstream_gene_variant,,ENST00000605591,;	A	ENST00000325303	Transcript	missense_variant	772/2175	466/1041	156/346	G/C	Ggc/Tgc	rs141798102	1		-1	CDK20	HGNC	HGNC:21420	protein_coding	YES	CCDS35060.1	ENSP00000322343	Q8IZL9		UPI00000740E8	NM_001039803.2	deleterious(0.02)		4/8		PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF171,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		rs141798102	.												A	3	1	78	87970810	87970810	C	A	1	0	0	0	0	1	0	0	0	2841	652	23	1		1	CDK20	9	87970810	Missense_Mutation	SNP	C	C3N-01415_TP	2949378	87970810	50423907	311	25597											
CYLC2	0	.	GRCh38	chr9	103004770	103004770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctttaatgagaatttctGagagaccatctgtttattta	11	18	7	5	0	3	3	0	2	3	2	3	5	3	3	1	0	0	2	1	0	4	8	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.256G>A	p.Glu86Lys	p.E86K	ENST00000374798	4/8	272	251	21	351	351	0	strelka-varscan-mutect	CYLC2,missense_variant,p.Glu86Lys,ENST00000374798,NM_001340.4;CYLC2,missense_variant,p.Glu86Lys,ENST00000487798,;CYLC2,missense_variant,p.Glu86Lys,ENST00000612124,;	A	ENST00000374798	Transcript	missense_variant	326/2171	256/1047	86/348	E/K	Gag/Aag		1		1	CYLC2	HGNC	HGNC:2583	protein_coding	YES	CCDS35085.1	ENSP00000420256	Q14093	A0A024R146	UPI0000128C36	NM_001340.4	deleterious(0)		4/8		Pfam_domain:PF15241,hmmpanther:PTHR16742																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	103004770	103004770	G	A	1	0	0	0	0	1	0	0	0	3945	1291	45	3		3	CYLC2	9	103004770	Missense_Mutation	SNP	G	C3N-01415_TP	15033960	103004770	35389947	312	25598											
OR5C1	0	.	GRCh38	chr9	122789698	122789698	+	Missense_Mutation	SNP	T	T	A																															tcacagccgtggccatgatgTacgggacactcattttcatg																								novel		C3N-01415_TP	C3N-01415_NB	T	T																c.766T>A	p.Tyr256Asn	p.Y256N	ENST00000373680	1/1	68	51	17	86	86	0	strelka-varscan-mutect	OR5C1,missense_variant,p.Tyr256Asn,ENST00000373680,NM_001001923.1;	A	ENST00000373680	Transcript	missense_variant	766/963	766/963	256/320	Y/N	Tac/Aac		1		1	OR5C1	HGNC	HGNC:8331	protein_coding	YES	CCDS35131.1	ENSP00000362784	Q8NGR4	A0A126GW42	UPI0000061E7B	NM_001001923.1	tolerated(0.06)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF119,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	78	122789698	122789698	T	A	1	0	0	0	0	1	0	0	0	11224	1638	57	4		4	OR5C1	9	122789698	Missense_Mutation	SNP	T	C3N-01415_TP	19784928	122789698	15605019	313	25599	543	2									
OR5C1	0	.	GRCh38	chr9	122789699	122789699	+	Missense_Mutation	SNP	A	A	C																															cacagccgtggccatgatgtAcgggacactcattttcatgt																								novel		C3N-01415_TP	C3N-01415_NB	A	A																c.767A>C	p.Tyr256Ser	p.Y256S	ENST00000373680	1/1	70	53	17	86	86	0	strelka-varscan-mutect	OR5C1,missense_variant,p.Tyr256Ser,ENST00000373680,NM_001001923.1;	C	ENST00000373680	Transcript	missense_variant	767/963	767/963	256/320	Y/S	tAc/tCc		1		1	OR5C1	HGNC	HGNC:8331	protein_coding	YES	CCDS35131.1	ENSP00000362784	Q8NGR4	A0A126GW42	UPI0000061E7B	NM_001001923.1	deleterious(0.03)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF119,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	78	122789699	122789699	A	C	1	0	0	0	0	1	0	0	0	11224	391	14	5		5	OR5C1	9	122789699	Missense_Mutation	SNP	A	C3N-01415_TP	1	122789699	15605018	314	25600	543	2									
RC3H2	0	.	GRCh38	chr9	122859103	122859103	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtggtggatagtatcCttgaaaattggaaagaggaa	14	10	15	2	0	0	2	0	1	0	1	1	6	1	6	1	6	0	1	1	6	6	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1850-1G>T		p.X617_splice	ENST00000373670		42	35	7	89	89	0	strelka-varscan-mutect	RC3H2,splice_acceptor_variant,,ENST00000373670,;RC3H2,splice_acceptor_variant,,ENST00000357244,NM_001100588.1;RC3H2,splice_acceptor_variant,,ENST00000423239,NM_018835.2;RC3H2,upstream_gene_variant,,ENST00000454740,;RC3H2,upstream_gene_variant,,ENST00000398671,;RC3H2,splice_acceptor_variant,,ENST00000498479,;	A	ENST00000373670	Transcript	splice_acceptor_variant	-/9248	1850/3576	617/1191				1		-1	RC3H2	HGNC	HGNC:21461	protein_coding	YES	CCDS43874.1	ENSP00000362774	Q9HBD1	A0A024R899	UPI0000048D91					10/19																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	78	122859103	122859103	C	A	1	0	0	0	0	0	0	1	0	13336	695	24	2		2	RC3H2	9	122859103	Splice_Site	SNP	C	C3N-01415_TP	69404	122859103	15535614	315	25601											
STXBP1	0	.	GRCh38	chr9	127665326	127665326	+	Missense_Mutation	SNP	G	G	T																															aagctgatgatccaacaatgGgggaggtaagtctggcttgg																								novel		C3N-01415_TP	C3N-01415_NB	G	G																c.658G>T	p.Gly220Trp	p.G220W	ENST00000373302	8/20	378	293	85	448	447	1	strelka-varscan-mutect	STXBP1,missense_variant,p.Gly206Trp,ENST00000637173,;STXBP1,missense_variant,p.Gly220Trp,ENST00000373302,NM_003165.3;STXBP1,missense_variant,p.Gly206Trp,ENST00000637521,;STXBP1,missense_variant,p.Gly220Trp,ENST00000637953,;STXBP1,missense_variant,p.Gly206Trp,ENST00000626539,;STXBP1,missense_variant,p.Gly220Trp,ENST00000373299,NM_001032221.3;STXBP1,missense_variant,p.Gly220Trp,ENST00000636962,;STXBP1,downstream_gene_variant,,ENST00000626333,;STXBP1,downstream_gene_variant,,ENST00000496504,;STXBP1,downstream_gene_variant,,ENST00000630492,;STXBP1,downstream_gene_variant,,ENST00000625363,;STXBP1,downstream_gene_variant,,ENST00000627871,;STXBP1,non_coding_transcript_exon_variant,,ENST00000626416,;STXBP1,missense_variant,p.Gly206Trp,ENST00000636509,;STXBP1,missense_variant,p.Gly220Trp,ENST00000635950,;STXBP1,3_prime_UTR_variant,,ENST00000637464,;STXBP1,3_prime_UTR_variant,,ENST00000637060,;	T	ENST00000373302	Transcript	missense_variant	855/3967	658/1812	220/603	G/W	Ggg/Tgg		1		1	STXBP1	HGNC	HGNC:11444	protein_coding	YES	CCDS6874.1	ENSP00000362399	P61764		UPI0000006C0B	NM_003165.3	deleterious(0)		8/20		hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF35,Pfam_domain:PF00995,PIRSF_domain:PIRSF005715,Gene3D:3.40.50.1910,Superfamily_domains:SSF56815																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	127665326	127665326	G	T	1	0	0	0	0	1	0	0	0	15736	1246	43	2		2	STXBP1	9	127665326	Missense_Mutation	SNP	G	C3N-01415_TP	4806223	127665326	10729391	316	25602	544	2									
STXBP1	0	.	GRCh38	chr9	127665327	127665327	+	Missense_Mutation	SNP	G	G	T																															agctgatgatccaacaatggGggaggtaagtctggcttgga																								novel		C3N-01415_TP	C3N-01415_NB	G	G																c.659G>T	p.Gly220Val	p.G220V	ENST00000373302	8/20	380	297	83	447	446	1	strelka-varscan-mutect	STXBP1,missense_variant,p.Gly206Val,ENST00000637173,;STXBP1,missense_variant,p.Gly220Val,ENST00000373302,NM_003165.3;STXBP1,missense_variant,p.Gly206Val,ENST00000637521,;STXBP1,missense_variant,p.Gly220Val,ENST00000637953,;STXBP1,missense_variant,p.Gly206Val,ENST00000626539,;STXBP1,missense_variant,p.Gly220Val,ENST00000373299,NM_001032221.3;STXBP1,missense_variant,p.Gly220Val,ENST00000636962,;STXBP1,downstream_gene_variant,,ENST00000626333,;STXBP1,downstream_gene_variant,,ENST00000496504,;STXBP1,downstream_gene_variant,,ENST00000630492,;STXBP1,downstream_gene_variant,,ENST00000625363,;STXBP1,downstream_gene_variant,,ENST00000627871,;STXBP1,non_coding_transcript_exon_variant,,ENST00000626416,;STXBP1,missense_variant,p.Gly206Val,ENST00000636509,;STXBP1,missense_variant,p.Gly220Val,ENST00000635950,;STXBP1,3_prime_UTR_variant,,ENST00000637464,;STXBP1,3_prime_UTR_variant,,ENST00000637060,;	T	ENST00000373302	Transcript	missense_variant	856/3967	659/1812	220/603	G/V	gGg/gTg		1		1	STXBP1	HGNC	HGNC:11444	protein_coding	YES	CCDS6874.1	ENSP00000362399	P61764		UPI0000006C0B	NM_003165.3	deleterious(0.03)		8/20		hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF35,Pfam_domain:PF00995,PIRSF_domain:PIRSF005715,Gene3D:3.40.50.1910,Superfamily_domains:SSF56815																	MODERATE	1	SNV	1			1										PASS		rs1215315994	.												T	3	4	78	127665327	127665327	G	T	1	0	0	0	0	1	0	0	0	15736	1246	43	2		2	STXBP1	9	127665327	Missense_Mutation	SNP	G	C3N-01415_TP	1	127665327	10729390	317	25603	544	2									
SNAPC4	0	.	GRCh38	chr9	136383368	136383368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctggcactggaccccttggGagggctgagggaggcagcgg	6	5	20	10	1	0	1	0	1	0	0	0	4	0	4	2	7	1	4	2	7	0	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1801C>T	p.Pro601Ser	p.P601S	ENST00000298532	15/23	188	132	56	198	197	1	strelka-varscan-mutect	SNAPC4,missense_variant,p.Pro601Ser,ENST00000298532,NM_003086.2;SNAPC4,downstream_gene_variant,,ENST00000637388,;	A	ENST00000298532	Transcript	missense_variant	2170/5010	1801/4410	601/1469	P/S	Ccc/Tcc		1		-1	SNAPC4	HGNC	HGNC:11137	protein_coding	YES	CCDS6998.1	ENSP00000298532	Q5SXM2	A0A024R8F4	UPI000013E4EC	NM_003086.2	tolerated(0.3)		15/23																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	136383368	136383368	G	A	1	0	0	0	0	1	0	0	0	15158	1174	41	3		3	SNAPC4	9	136383368	Missense_Mutation	SNP	G	C3N-01415_TP	8718041	136383368	2011349	318	25604											
LARP4B	0	.	GRCh38	chr10	864215	864215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttccagatgtaacacaGgagccccccacacttctgca	10	9	7	15	0	1	1	0	0	1	1	2	2	2	2	4	1	4	3	4	1	1	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.197C>T	p.Pro66Leu	p.P66L	ENST00000612396	4/18	364	301	63	411	411	0	strelka-varscan-mutect	LARP4B,missense_variant,p.Pro66Leu,ENST00000612396,NM_015155.2;LARP4B,missense_variant,p.Pro66Leu,ENST00000316157,;LARP4B,missense_variant,p.Pro66Leu,ENST00000406525,;LARP4B,downstream_gene_variant,,ENST00000412411,;LARP4B,non_coding_transcript_exon_variant,,ENST00000481118,;LARP4B,3_prime_UTR_variant,,ENST00000476529,;	A	ENST00000612396	Transcript	missense_variant	514/8546	197/2217	66/738	P/L	cCt/cTt		1		-1	LARP4B	HGNC	HGNC:28987	protein_coding	YES	CCDS31131.1	ENSP00000482767	Q92615		UPI00001F8C87	NM_015155.2	tolerated(0.12)		4/18		hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF43																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	78	864215	864215	G	A	1	0	0	0	0	1	0	0	0	8542	1000	35	3		3	LARP4B	10	864215	Missense_Mutation	SNP	G	C3N-01415_TP		864215	132933207	319	25605											
DNAJC1	0	.	GRCh38	chr10	21759496	21759496	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagtctccctcctgctcctCctccgctgccaccccctctg	2	10	7	22	1	2	0	0	0	2	0	7	1	6	1	8	1	2	2	8	1	0	0	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1270G>T	p.Glu424Ter	p.E424*	ENST00000376980	11/12	389	316	73	540	540	0	strelka-varscan-mutect	DNAJC1,stop_gained,p.Glu424Ter,ENST00000376980,NM_022365.3;DNAJC1,downstream_gene_variant,,ENST00000483085,;	A	ENST00000376980	Transcript	stop_gained	1561/2106	1270/1665	424/554	E/*	Gag/Tag		1		-1	DNAJC1	HGNC	HGNC:20090	protein_coding	YES	CCDS7136.1	ENSP00000366179	Q96KC8		UPI0000049FEF	NM_022365.3			11/12		Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	78	21759496	21759496	C	A	1	0	0	0	0	0	1	0	0	4442	864	30	2		2	DNAJC1	10	21759496	Nonsense_Mutation	SNP	C	C3N-01415_TP	20895281	21759496	112037926	320	25606											
KIAA1217	0	.	GRCh38	chr10	24545083	24545083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaagcagtccaaactgcagGatccccgccaatatcgtcag	12	6	9	14	2	1	0	1	0	0	0	4	1	3	1	4	1	3	3	4	1	4	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.5314G>T	p.Asp1772Tyr	p.D1772Y	ENST00000376454	20/21	170	141	29	194	192	2	strelka-varscan-mutect	KIAA1217,missense_variant,p.Asp1455Tyr,ENST00000376451,;KIAA1217,missense_variant,p.Asp1772Tyr,ENST00000376454,NM_019590.4;KIAA1217,missense_variant,p.Asp1093Tyr,ENST00000376462,NM_001098500.2;KIAA1217,missense_variant,p.Asp1203Tyr,ENST00000376452,NM_001282767.1;KIAA1217,missense_variant,p.Asp1178Tyr,ENST00000458595,NM_001282768.1;KIAA1217,missense_variant,p.Asp1093Tyr,ENST00000430453,;KIAA1217,missense_variant,p.Asp896Tyr,ENST00000396445,;KIAA1217,missense_variant,p.Asp922Tyr,ENST00000307544,NM_001282769.1;KIAA1217,missense_variant,p.Asp856Tyr,ENST00000396446,NM_001282770.1;KIAA1217,downstream_gene_variant,,ENST00000635163,;KIAA1217,downstream_gene_variant,,ENST00000492009,;	T	ENST00000376454	Transcript	missense_variant	5344/7381	5314/5832	1772/1943	D/Y	Gat/Tat		1		1	KIAA1217	HGNC	HGNC:25428	protein_coding	YES	CCDS31165.1	ENSP00000365637	Q5T5P2		UPI000013EC2A	NM_019590.4	deleterious(0)		20/21		hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	24545083	24545083	G	T	1	0	0	0	0	1	0	0	0	8109	1174	41	2		2	KIAA1217	10	24545083	Missense_Mutation	SNP	G	C3N-01415_TP	2785587	24545083	109252339	321	25607											
KIAA1462	0	.	GRCh38	chr10	30029205	30029205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgtccatctgctggctgtCctgagagtcactgctgtccg	4	11	13	13	2	2	1	1	1	1	1	5	2	5	1	3	2	2	3	3	2	0	0	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.943G>T	p.Asp315Tyr	p.D315Y	ENST00000375377	3/4	467	383	84	527	526	1	strelka-varscan-mutect	KIAA1462,missense_variant,p.Asp315Tyr,ENST00000375377,NM_020848.2;	A	ENST00000375377	Transcript	missense_variant	1045/9265	943/4080	315/1359	D/Y	Gac/Tac		1		-1	KIAA1462	HGNC	HGNC:29283	protein_coding	YES	CCDS41500.1	ENSP00000364526	Q9P266		UPI00001D8117	NM_020848.2	deleterious(0.01)		3/4		Low_complexity_(Seg):seg,hmmpanther:PTHR34757,hmmpanther:PTHR34757:SF1,Pfam_domain:PF15351																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	78	30029205	30029205	C	A	1	0	0	0	0	1	0	0	0	8116	855	30	2		2	KIAA1462	10	30029205	Missense_Mutation	SNP	C	C3N-01415_TP	5484122	30029205	103768217	322	25608											
ZNF33B	0	.	GRCh38	chr10	42593560	42593560	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaaggtttctcacctgTgtgagttctctggtgtactg	7	16	10	8	0	3	1	2	1	2	0	5	1	3	1	1	2	1	3	1	2	3	4	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.1390A>C	p.Thr464Pro	p.T464P	ENST00000359467	5/5	213	173	40	302	302	0	strelka-varscan-mutect	ZNF33B,missense_variant,p.Thr464Pro,ENST00000359467,NM_001305036.1,NM_001305033.1,NM_006955.1;ZNF33B,missense_variant,p.Thr464Pro,ENST00000613419,;ZNF33B,intron_variant,,ENST00000465206,;ZNF33B,intron_variant,,ENST00000462075,;ZNF33B,intron_variant,,ENST00000486187,;	G	ENST00000359467	Transcript	missense_variant	1505/5958	1390/2337	464/778	T/P	Aca/Cca		1		-1	ZNF33B	HGNC	HGNC:13097	protein_coding	YES	CCDS7198.1	ENSP00000352444	Q06732		UPI000007257B	NM_001305036.1,NM_001305033.1,NM_006955.1	deleterious(0)		5/5		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF204,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	42593560	42593560	T	G	1	0	0	0	0	1	0	0	0	18427	1696	59	5		5	ZNF33B	10	42593560	Missense_Mutation	SNP	T	C3N-01415_TP	12564355	42593560	91203862	323	25609											
FAM21C	0	.	GRCh38	chr10	45787112	45787112	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtaaagcctgttttgccAgaattggcttttccttcatc	9	15	8	9	0	1	1	1	0	0	1	3	2	2	1	3	1	2	3	3	1	4	7	rs782720298		C3N-01415_TP	C3N-01415_NB	A	A																c.2889A>T	p.=	p.P963P	ENST00000374362	27/30	153	128	25	208	208	0	strelka-varscan-mutect	FAM21C,synonymous_variant,p.=,ENST00000336378,;FAM21C,synonymous_variant,p.=,ENST00000374362,NM_015262.2;FAM21C,synonymous_variant,p.=,ENST00000623400,;FAM21C,synonymous_variant,p.=,ENST00000540872,NM_001169106.1;FAM21C,synonymous_variant,p.=,ENST00000359860,;FAM21C,synonymous_variant,p.=,ENST00000537517,NM_001169107.1;FAM21C,non_coding_transcript_exon_variant,,ENST00000471102,;FAM21C,downstream_gene_variant,,ENST00000374359,;	T	ENST00000374362	Transcript	synonymous_variant	2988/4623	2889/3963	963/1320	P	ccA/ccT	rs782720298	1		1	FAM21C	HGNC	HGNC:23414	protein_coding	YES	CCDS44374.2	ENSP00000363482	Q9Y4E1		UPI0000551BE9	NM_015262.2			27/30		hmmpanther:PTHR21669:SF4,hmmpanther:PTHR21669,Pfam_domain:PF15255																	LOW	1	SNV	1			1										PASS		rs782720298	.												T	2	4	78	45787112	45787112	A	T	1	0	0	0	0	0	0	0	1	5412	175	7	4		4	FAM21C	10	45787112	Silent	SNP	A	C3N-01415_TP	3193552	45787112	88010310	324	25610											
C10orf71	0	.	GRCh38	chr10	49326482	49326482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtatgtcaaggtctccatcCcgtcctccgagggggcctcc	6	9	11	15	2	2	0	1	0	1	0	7	1	6	0	6	3	0	1	6	3	2	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.3937C>A	p.Pro1313Thr	p.P1313T	ENST00000374144	3/3	201	155	46	203	203	0	strelka-varscan-mutect	C10orf71,missense_variant,p.Pro1313Thr,ENST00000374144,NM_001135196.1;	A	ENST00000374144	Transcript	missense_variant	4225/5230	3937/4308	1313/1435	P/T	Ccg/Acg		1		1	C10orf71	HGNC	HGNC:26973	protein_coding	YES	CCDS44387.1	ENSP00000363259	Q711Q0		UPI0000161572	NM_001135196.1	deleterious(0.01)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR33775,Pfam_domain:PF15232																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	49326482	49326482	C	A	1	0	0	0	0	1	0	0	0	1769	623	22	2		2	C10orf71	10	49326482	Missense_Mutation	SNP	C	C3N-01415_TP	3539370	49326482	84470940	325	25611											
KAT6B	0	.	GRCh38	chr10	74975737	74975737	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcactatcgtccaaggaaaaAggtctctcagaaacagtcat	15	8	8	10	1	3	1	2	0	1	1	6	2	4	2	1	2	1	1	1	2	5	1	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.1400A>T	p.Lys467Met	p.K467M	ENST00000287239	8/18	800	691	109	964	964	0	strelka-varscan-mutect	KAT6B,missense_variant,p.Lys467Met,ENST00000287239,NM_012330.3;KAT6B,missense_variant,p.Lys467Met,ENST00000372711,NM_001256468.1;KAT6B,intron_variant,,ENST00000372724,NM_001256469.1;KAT6B,intron_variant,,ENST00000372725,;KAT6B,intron_variant,,ENST00000372714,;KAT6B,upstream_gene_variant,,ENST00000490365,;	T	ENST00000287239	Transcript	missense_variant	1889/8287	1400/6222	467/2073	K/M	aAg/aTg		1		1	KAT6B	HGNC	HGNC:17582	protein_coding	YES	CCDS7345.1	ENSP00000287239	Q8WYB5		UPI000013DEA0	NM_012330.3	tolerated(0.06)		8/18		hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF73																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	74975737	74975737	A	T	1	0	0	0	0	1	0	0	0	7899	72	3	4		4	KAT6B	10	74975737	Missense_Mutation	SNP	A	C3N-01415_TP	25649255	74975737	58821685	326	25612											
DLG5	0	.	GRCh38	chr10	77809607	77809607	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaggactgtcatcctcCacctcggccacaaacacccc	9	7	7	18	1	1	0	1	0	0	0	4	1	3	1	6	3	1	1	6	3	1	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.4587G>C	p.=	p.V1529V	ENST00000372391	24/32	257	217	40	225	225	0	strelka-varscan-mutect	DLG5,synonymous_variant,p.=,ENST00000372391,NM_004747.3;DLG5,synonymous_variant,p.=,ENST00000424842,;DLG5,non_coding_transcript_exon_variant,,ENST00000459739,;DLG5,non_coding_transcript_exon_variant,,ENST00000489547,;DLG5,upstream_gene_variant,,ENST00000484525,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;DLG5,non_coding_transcript_exon_variant,,ENST00000463362,;	G	ENST00000372391	Transcript	synonymous_variant	4593/7415	4587/5760	1529/1919	V	gtG/gtC		1		-1	DLG5	HGNC	HGNC:2904	protein_coding	YES	CCDS7353.2	ENSP00000361467	Q8TDM6		UPI0000470041	NM_004747.3			24/32		PROSITE_profiles:PS50106,hmmpanther:PTHR13865:SF31,hmmpanther:PTHR13865,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	LOW	1	SNV	1			1										PASS		rs1199958729	.												G	2	3	78	77809607	77809607	C	G	1	0	0	0	0	0	0	0	1	4365	581	21	4		4	DLG5	10	77809607	Silent	SNP	C	C3N-01415_TP	2833870	77809607	55987815	327	25613											
LRIT1	0	.	GRCh38	chr10	84234316	84234316	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagtttggggcccagcCatccaaaagatgaaccaggt	12	6	12	11	0	0	2	0	1	0	1	1	2	1	2	5	4	2	1	5	4	4	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.652G>T	p.Gly218Cys	p.G218C	ENST00000372105	3/4	80	66	14	90	90	0	strelka-varscan-mutect	LRIT1,missense_variant,p.Gly218Cys,ENST00000372105,NM_015613.2;	A	ENST00000372105	Transcript	missense_variant	674/2228	652/1872	218/623	G/C	Ggc/Tgc		1		-1	LRIT1	HGNC	HGNC:23404	protein_coding	YES	CCDS7373.1	ENSP00000361177	Q9P2V4		UPI000006F66C	NM_015613.2	tolerated(0.18)		3/4		Gene3D:3.80.10.10,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF9,SMART_domains:SM00082,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	84234316	84234316	C	A	1	0	0	0	0	1	0	0	0	8842	594	21	2		2	LRIT1	10	84234316	Missense_Mutation	SNP	C	C3N-01415_TP	6424709	84234316	49563106	328	25614											
LIPK	0	.	GRCh38	chr10	88752625	88752625	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgttgaaaatttacttcctCaaattgctaaccttatttat	13	18	3	7	0	1	1	1	1	0	0	2	1	2	1	2	0	3	2	2	0	7	9	rs752619939		C3N-01415_TP	C3N-01415_NB	C	C																c.1069C>G	p.Gln357Glu	p.Q357E	ENST00000404190	9/9	299	265	34	356	356	0	strelka-varscan-mutect	LIPK,missense_variant,p.Gln357Glu,ENST00000404190,NM_001080518.1;	G	ENST00000404190	Transcript	missense_variant	1069/1230	1069/1200	357/399	Q/E	Caa/Gaa	rs752619939	1		1	LIPK	HGNC	HGNC:23444	protein_coding	YES	CCDS44455.1	ENSP00000383900	Q5VXJ0		UPI00000497BC	NM_001080518.1	tolerated(0.36)		9/9		hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF45,PIRSF_domain:PIRSF000862,Gene3D:3.40.50.1820,Pfam_domain:PF00561,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		rs752619939	.												G	3	3	78	88752625	88752625	C	G	1	0	0	0	0	1	0	0	0	8748	827	29	4		4	LIPK	10	88752625	Missense_Mutation	SNP	C	C3N-01415_TP	4518309	88752625	45044797	329	25615											
LIPN	0	.	GRCh38	chr10	88778012	88778012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttctctcccacagagtCatccccctatatatgacctg	8	13	5	15	0	2	2	1	1	1	1	5	2	4	2	4	0	1	1	4	0	3	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.967C>A	p.His323Asn	p.H323N	ENST00000404459	9/9	108	89	19	177	177	0	strelka-varscan-mutect	LIPN,missense_variant,p.His323Asn,ENST00000404459,NM_001102469.1;	A	ENST00000404459	Transcript	missense_variant	967/1197	967/1197	323/398	H/N	Cat/Aat		1		1	LIPN	HGNC	HGNC:23452	protein_coding	YES	CCDS44456.1	ENSP00000383923	Q5VXI9		UPI000150AF6A	NM_001102469.1	deleterious(0.05)		9/9		hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF16,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000862,Pfam_domain:PF00561,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	88778012	88778012	C	A	1	0	0	0	0	1	0	0	0	8750	840	29	2		2	LIPN	10	88778012	Missense_Mutation	SNP	C	C3N-01415_TP	25387	88778012	45019410	330	25616											
PNLIP	0	.	GRCh38	chr10	116559220	116559220	+	Frame_Shift_Del	DEL	G	G	-																															actatgctgatagatatcctGggaaaacaaatgatgtgggc																										C3N-01415_TP	C3N-01415_NB	G	G																c.999delG	p.Thr335GlnfsTer10	p.T335Qfs*10	ENST00000369221	10/13	267	241	26	327	327	0	sindel-varindel-pindel	PNLIP,frameshift_variant,p.Thr335GlnfsTer10,ENST00000369221,NM_000936.2;	-	ENST00000369221	Transcript	frameshift_variant	1025/1483	997/1398	333/465	G/X	Ggg/gg	COSM1287272,COSM1287273	1		1	PNLIP	HGNC	HGNC:9155	protein_coding	YES	CCDS7594.1	ENSP00000358223	P16233		UPI000004F1A0	NM_000936.2			10/13		Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF85,Superfamily_domains:SSF53474											1,1						HIGH	1	deletion	1	2	1,1	1										PASS		.	.												-	7	5	78	116559220	116559220	G	-	1	0	1	0	1	0	0	0	0	12257	1348	47	0		0	PNLIP	10	116559220	Frame_Shift_Del	DEL	G	C3N-01415_TP	27781208	116559220	17238202	331	25617											
ACADSB	0	.	GRCh38	chr10	123041287	123041287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagctgataaagagggaGattattatgtcctcaatgga	14	10	11	6	0	1	4	1	1	0	3	2	6	2	5	2	2	1	1	2	2	5	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.589G>T	p.Asp197Tyr	p.D197Y	ENST00000358776	5/11	486	406	80	529	528	1	strelka-varscan-mutect	ACADSB,missense_variant,p.Asp197Tyr,ENST00000358776,NM_001609.3;ACADSB,missense_variant,p.Asp95Tyr,ENST00000368869,;ACADSB,downstream_gene_variant,,ENST00000411816,;	T	ENST00000358776	Transcript	missense_variant	603/5859	589/1299	197/432	D/Y	Gat/Tat		1		1	ACADSB	HGNC	HGNC:91	protein_coding	YES	CCDS7634.1	ENSP00000357873	P45954	A0A0S2Z3P9	UPI00001251DF	NM_001609.3	deleterious(0.01)		5/11		Gene3D:2.40.110.10,Pfam_domain:PF02770,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF10,Superfamily_domains:SSF56645																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	123041287	123041287	G	T	1	0	0	0	0	1	0	0	0	158	942	33	2		2	ACADSB	10	123041287	Missense_Mutation	SNP	G	C3N-01415_TP	6482067	123041287	10756135	332	25618											
TEX36	0	.	GRCh38	chr10	125656172	125656172	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aacatgttgcctcttatctgGagagatcttcttacgtccca	9	14	7	11	1	4	1	0	0	4	1	5	3	5	2	2	1	3	1	2	1	3	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.289C>G	p.Pro97Ala	p.P97A	ENST00000368821	4/4	91	65	26	120	120	0	strelka-varscan-mutect	TEX36,missense_variant,p.Pro97Ala,ENST00000368821,NM_001128202.1;TEX36,intron_variant,,ENST00000532135,NM_001318133.1;TEX36,intron_variant,,ENST00000526819,;	C	ENST00000368821	Transcript	missense_variant	444/922	289/561	97/186	P/A	Cca/Gca		1		-1	TEX36	HGNC	HGNC:31653	protein_coding	YES	CCDS44493.1	ENSP00000357811	Q5VZQ5		UPI00001D808E	NM_001128202.1	deleterious(0.01)		4/4		Pfam_domain:PF15115,hmmpanther:PTHR35440,hmmpanther:PTHR35440:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	125656172	125656172	G	C	1	0	0	0	0	1	0	0	0	16212	1174	41	4		4	TEX36	10	125656172	Missense_Mutation	SNP	G	C3N-01415_TP	2614885	125656172	8141250	333	25619											
FAM196A	0	.	GRCh38	chr10	127176105	127176105	+	Silent	SNP	G	G	A																															cctgtgctcttggtgacgttGgggatggacctgcgtgcggg																								novel		C3N-01415_TP	C3N-01415_NB	G	G																c.291C>T	p.=	p.P97P	ENST00000522781	4/6	355	335	20	404	403	1	strelka-varscan-mutect	FAM196A,synonymous_variant,p.=,ENST00000522781,NM_001039762.2;FAM196A,synonymous_variant,p.=,ENST00000614311,;FAM196A,synonymous_variant,p.=,ENST00000424811,;DOCK1,intron_variant,,ENST00000280333,NM_001380.4;DOCK1,intron_variant,,ENST00000623213,NM_001290223.1;	A	ENST00000522781	Transcript	synonymous_variant	847/4403	291/1440	97/479	P	ccC/ccT		1		-1	FAM196A	HGNC	HGNC:33859	protein_coding	YES	CCDS31312.1	ENSP00000429763	Q6ZSG2		UPI00001C0E37	NM_001039762.2			4/6		hmmpanther:PTHR28682:SF1,hmmpanther:PTHR28682,Pfam_domain:PF15265																	LOW		SNV	2			1										PASS		.	.												A	2	1	78	127176105	127176105	G	A	1	0	0	0	0	0	0	0	1	5373	1335	47	3		3	FAM196A	10	127176105	Silent	SNP	G	C3N-01415_TP	1519933	127176105	6621317	334	25620	545	2									
FAM196A	0	.	GRCh38	chr10	127176106	127176106	+	Missense_Mutation	SNP	G	G	T																															ctgtgctcttggtgacgttgGggatggacctgcgtgcgggc																								novel		C3N-01415_TP	C3N-01415_NB	G	G																c.290C>A	p.Pro97His	p.P97H	ENST00000522781	4/6	356	337	19	404	403	1	strelka-varscan-mutect	FAM196A,missense_variant,p.Pro97His,ENST00000522781,NM_001039762.2;FAM196A,missense_variant,p.Pro97His,ENST00000614311,;FAM196A,missense_variant,p.Pro97His,ENST00000424811,;DOCK1,intron_variant,,ENST00000280333,NM_001380.4;DOCK1,intron_variant,,ENST00000623213,NM_001290223.1;	T	ENST00000522781	Transcript	missense_variant	846/4403	290/1440	97/479	P/H	cCc/cAc		1		-1	FAM196A	HGNC	HGNC:33859	protein_coding	YES	CCDS31312.1	ENSP00000429763	Q6ZSG2		UPI00001C0E37	NM_001039762.2	deleterious(0)		4/6		hmmpanther:PTHR28682:SF1,hmmpanther:PTHR28682,Pfam_domain:PF15265																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	78	127176106	127176106	G	T	1	0	0	0	0	1	0	0	0	5373	1232	43	2		2	FAM196A	10	127176106	Missense_Mutation	SNP	G	C3N-01415_TP	1	127176106	6621316	335	25621	545	2									
LRRC27	0	.	GRCh38	chr10	132342262	132342262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctatcaaaatgttacctGtggagctgggtaagtataaa	14	12	9	6	0	1	0	1	0	0	0	2	1	2	1	2	2	2	4	2	2	8	5	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.391G>T	p.Val131Leu	p.V131L	ENST00000368614	4/11	245	228	17	219	219	0	strelka-varscan-mutect	LRRC27,missense_variant,p.Val131Leu,ENST00000368614,NM_030626.2;LRRC27,missense_variant,p.Val131Leu,ENST00000368613,NM_001143757.1;LRRC27,missense_variant,p.Val131Leu,ENST00000344079,NM_001143759.1;LRRC27,missense_variant,p.Val69Leu,ENST00000368612,;LRRC27,missense_variant,p.Val131Leu,ENST00000625755,NM_001143758.1;LRRC27,non_coding_transcript_exon_variant,,ENST00000450442,;LRRC27,non_coding_transcript_exon_variant,,ENST00000490055,;LRRC27,non_coding_transcript_exon_variant,,ENST00000489204,;LRRC27,intron_variant,,ENST00000462656,;	T	ENST00000368614	Transcript	missense_variant	496/6374	391/1593	131/530	V/L	Gtg/Ttg		1		1	LRRC27	HGNC	HGNC:29346	protein_coding	YES	CCDS31316.1	ENSP00000357603	Q9C0I9	A0A140VJN2	UPI0000141386	NM_030626.2	deleterious(0.04)		4/11		PROSITE_profiles:PS51450,hmmpanther:PTHR23155,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	132342262	132342262	G	T	1	0	0	0	0	1	0	0	0	8876	1377	48	2		2	LRRC27	10	132342262	Missense_Mutation	SNP	G	C3N-01415_TP	5166156	132342262	1455160	336	25622											
PAOX	0	.	GRCh38	chr10	133380462	133380462	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggagtataccgtgctgccGgggctggactgcaccttttc	5	10	15	11	2	0	0	0	0	0	0	1	2	0	2	3	5	4	4	3	5	2	4	rs769816764		C3N-01415_TP	C3N-01415_NB	G	G																c.645G>T	p.=	p.P215P	ENST00000278060	2/7	204	175	29	218	218	0	strelka-varscan-mutect	PAOX,synonymous_variant,p.=,ENST00000278060,NM_152911.3;PAOX,synonymous_variant,p.=,ENST00000357296,NM_207128.2;PAOX,synonymous_variant,p.=,ENST00000480071,NM_207127.2;PAOX,intron_variant,,ENST00000368539,;PAOX,non_coding_transcript_exon_variant,,ENST00000368535,;PAOX,downstream_gene_variant,,ENST00000528127,;PAOX,synonymous_variant,p.=,ENST00000356306,;PAOX,intron_variant,,ENST00000476834,;PAOX,intron_variant,,ENST00000483211,;PAOX,intron_variant,,ENST00000529585,;	T	ENST00000278060	Transcript	synonymous_variant	728/1858	645/1536	215/511	P	ccG/ccT	rs769816764	1		1	PAOX	HGNC	HGNC:20837	protein_coding	YES	CCDS7683.1	ENSP00000278060	Q6QHF9		UPI000000D787	NM_152911.3			2/7		hmmpanther:PTHR10742:SF43,hmmpanther:PTHR10742,Gene3D:3.90.660.10,Pfam_domain:PF01593,Superfamily_domains:SSF51905																	LOW	1	SNV	1			1										PASS		rs769816764	.												T	2	4	78	133380462	133380462	G	T	1	0	0	0	0	0	0	0	1	11504	1103	39	1		1	PAOX	10	133380462	Silent	SNP	G	C3N-01415_TP	1038200	133380462	416960	337	25623											
MUC5AC	0	.	GRCh38	chr11	1187781	1187781	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtttccatatccaagacAacccactcccaaccagtcac	13	8	3	17	0	1	1	1	0	0	1	4	1	4	1	5	0	2	1	5	0	4	2	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.9636A>G	p.=	p.T3212T	ENST00000621226	31/49	230	213	17	242	242	0	varscan-mutect	MUC5AC,synonymous_variant,p.=,ENST00000621226,NM_001304359.1;	G	ENST00000621226	Transcript	synonymous_variant	9683/17448	9636/16965	3212/5654	T	acA/acG		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1			31/49		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	78	1187781	1187781	A	G	1	0	0	0	0	0	0	0	1	9978	117	5	5		5	MUC5AC	11	1187781	Silent	SNP	A	C3N-01415_TP		1187781	133898841	338	25624											
LSP1	0	.	GRCh38	chr11	1887556	1887556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtggaagggggcccggCtccctaggcgtcccatctcg	4	8	15	14	3	1	0	0	0	1	0	4	1	3	1	3	5	0	2	3	5	2	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1397C>A	p.Ala466Asp	p.A466D	ENST00000381775	11/12	205	157	48	175	175	0	strelka-varscan-mutect	LSP1,missense_variant,p.Ala276Asp,ENST00000406638,NM_001013254.1,NM_001013255.1;LSP1,missense_variant,p.Ala466Asp,ENST00000381775,NM_001242932.1;LSP1,missense_variant,p.Ala276Asp,ENST00000612798,NM_001289005.1;LSP1,missense_variant,p.Ala276Asp,ENST00000405957,NM_001013253.1;LSP1,missense_variant,p.Ala338Asp,ENST00000311604,NM_002339.2;LSP1,downstream_gene_variant,,ENST00000432093,;LSP1,downstream_gene_variant,,ENST00000417766,;LSP1,downstream_gene_variant,,ENST00000457279,;LSP1,downstream_gene_variant,,ENST00000421485,;LSP1,downstream_gene_variant,,ENST00000429923,;LSP1,downstream_gene_variant,,ENST00000446808,;LSP1,downstream_gene_variant,,ENST00000451814,;LSP1,non_coding_transcript_exon_variant,,ENST00000485341,;LSP1,non_coding_transcript_exon_variant,,ENST00000472974,;LSP1,downstream_gene_variant,,ENST00000484895,;LSP1,downstream_gene_variant,,ENST00000464670,;	A	ENST00000381775	Transcript	missense_variant	1505/2016	1397/1404	466/467	A/D	gCt/gAt		1		1	LSP1	HGNC	HGNC:6707	protein_coding	YES	CCDS58110.1	ENSP00000371194	P33241		UPI000013F8D0	NM_001242932.1	deleterious_low_confidence(0)		11/12																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	78	1887556	1887556	C	A	1	0	0	0	0	1	0	0	0	8970	797	28	2		2	LSP1	11	1887556	Missense_Mutation	SNP	C	C3N-01415_TP	699775	1887556	133199066	339	25625											
TRPM5	0	.	GRCh38	chr11	2418573	2418573	+	Frame_Shift_Del	DEL	A	A	-																															ccagcaagcagaggacagggAtctcgatgctgccagtgcct																								novel		C3N-01415_TP	C3N-01415_NB	A	A																c.668delT	p.Ile223ThrfsTer29	p.I223Tfs*29	ENST00000155858	5/24	191	177	14	193	193	0	sindel-varindel-pindel	TRPM5,frameshift_variant,p.Ile223ThrfsTer29,ENST00000155858,NM_014555.3;TRPM5,frameshift_variant,p.Ile217ThrfsTer29,ENST00000533881,;TRPM5,frameshift_variant,p.Ile223ThrfsTer29,ENST00000533060,;TRPM5,frameshift_variant,p.Ile223ThrfsTer29,ENST00000528453,;	-	ENST00000155858	Transcript	frameshift_variant	677/3929	668/3498	223/1165	I/X	aTc/ac		1		-1	TRPM5	HGNC	HGNC:14323	protein_coding	YES	CCDS31340.1	ENSP00000155858	Q9NZQ8		UPI000003B069	NM_014555.3			5/24		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF5																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	78	2418573	2418573	A	-	1	0	1	0	1	0	0	0	0	17095	333	12	0		0	TRPM5	11	2418573	Frame_Shift_Del	DEL	A	C3N-01415_TP	531017	2418573	132668049	340	25626											
OSBPL5	0	.	GRCh38	chr11	3103319	3103319	+	Frame_Shift_Del	DEL	C	C	-																															ggcatcctcctccaccgcagCcctgccatggggcaggagaa																								novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1246delG	p.Ala416LeufsTer11	p.A416Lfs*11	ENST00000263650	11/22	128	114	14	145	145	0	sindel-varindel-pindel	OSBPL5,frameshift_variant,p.Ala416LeufsTer11,ENST00000263650,NM_020896.3;OSBPL5,frameshift_variant,p.Ala348LeufsTer11,ENST00000389989,NM_145638.2,NM_001144063.1;OSBPL5,frameshift_variant,p.Ala348LeufsTer11,ENST00000348039,;OSBPL5,frameshift_variant,p.Ala327LeufsTer11,ENST00000525498,;OSBPL5,upstream_gene_variant,,ENST00000534454,;OSBPL5,splice_region_variant,,ENST00000534491,;OSBPL5,splice_region_variant,,ENST00000471998,;OSBPL5,downstream_gene_variant,,ENST00000532951,;	-	ENST00000263650	Transcript	frameshift_variant,splice_region_variant	1406/3889	1246/2640	416/879	A/X	Gct/ct		1		-1	OSBPL5	HGNC	HGNC:16392	protein_coding	YES	CCDS31344.1	ENSP00000263650	Q9H0X9		UPI000000D722	NM_020896.3			11/22		hmmpanther:PTHR10972:SF94,hmmpanther:PTHR10972,Pfam_domain:PF01237,Superfamily_domains:0051579																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	78	3103319	3103319	C	-	1	0	1	0	1	0	0	0	0	11346	753	26	0		0	OSBPL5	11	3103319	Frame_Shift_Del	DEL	C	C3N-01415_TP	684746	3103319	131983303	341	25627											
OR52M1	0	.	GRCh38	chr11	4545369	4545369	+	Missense_Mutation	SNP	C	C	A																															agaacgcagcctgcaccagcCcatgtactttttcttgtgca																								rs141278484		C3N-01415_TP	C3N-01415_NB	C	C																c.179C>A	p.Pro60His	p.P60H	ENST00000360213	1/1	243	211	32	261	260	1	strelka-varscan-mutect	OR52M1,missense_variant,p.Pro60His,ENST00000360213,NM_001004137.1;	A	ENST00000360213	Transcript	missense_variant	179/954	179/954	60/317	P/H	cCc/cAc	rs141278484	1		1	OR52M1	HGNC	HGNC:15225	protein_coding	YES	CCDS31353.1	ENSP00000353343	Q8NGK5		UPI0000041C62	NM_001004137.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF136,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs141278484	.												A	3	1	78	4545369	4545369	C	A	1	0	0	0	0	1	0	0	0	11199	623	22	2		2	OR52M1	11	4545369	Missense_Mutation	SNP	C	C3N-01415_TP	1442050	4545369	130541253	342	25628	546	2									
OR52M1	0	.	GRCh38	chr11	4545370	4545370	+	Silent	SNP	C	C	T																															gaacgcagcctgcaccagccCatgtactttttcttgtgcat																								novel		C3N-01415_TP	C3N-01415_NB	C	C																c.180C>T	p.=	p.P60P	ENST00000360213	1/1	244	211	33	257	257	0	strelka-varscan-mutect	OR52M1,synonymous_variant,p.=,ENST00000360213,NM_001004137.1;	T	ENST00000360213	Transcript	synonymous_variant	180/954	180/954	60/317	P	ccC/ccT		1		1	OR52M1	HGNC	HGNC:15225	protein_coding	YES	CCDS31353.1	ENSP00000353343	Q8NGK5		UPI0000041C62	NM_001004137.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF136,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs1432449368	.												T	2	4	78	4545370	4545370	C	T	1	0	0	0	0	0	0	0	1	11199	581	21	3		3	OR52M1	11	4545370	Silent	SNP	C	C3N-01415_TP	1	4545370	130541252	343	25629	546	2									
UBQLN3	0	.	GRCh38	chr11	5508330	5508330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggtatctcaggaaagctGggcaggaggaccttcccttg	8	9	15	9	0	1	0	1	0	1	0	3	3	2	3	2	6	1	3	2	6	2	3			C3N-01415_TP	C3N-01415_NB	G	G																c.1229C>T	p.Pro410Leu	p.P410L	ENST00000311659	2/2	135	104	31	149	148	1	strelka-varscan-mutect	UBQLN3,missense_variant,p.Pro410Leu,ENST00000311659,NM_017481.2;HBG2,intron_variant,,ENST00000380259,;HBE1,upstream_gene_variant,,ENST00000380237,;UBQLN3,downstream_gene_variant,,ENST00000445998,;HBG2,upstream_gene_variant,,ENST00000380252,;HBE1,upstream_gene_variant,,ENST00000396895,;AC104389.28,upstream_gene_variant,,ENST00000415970,;AC104389.28,upstream_gene_variant,,ENST00000418729,;AC104389.28,upstream_gene_variant,,ENST00000420465,;AC104389.28,upstream_gene_variant,,ENST00000420726,;	A	ENST00000311659	Transcript	missense_variant	1377/2407	1229/1968	410/655	P/L	cCa/cTa	COSM3448827	1		-1	UBQLN3	HGNC	HGNC:12510	protein_coding	YES	CCDS7758.1	ENSP00000347997	Q9H347	A0A140VJZ3	UPI000006E3A0	NM_017481.2	deleterious(0)		2/2													1						MODERATE	1	SNV	1		1	1										PASS		rs999501348	.												A	3	1	78	5508330	5508330	G	A	1	0	0	0	0	1	0	0	0	17422	1348	47	3		3	UBQLN3	11	5508330	Missense_Mutation	SNP	G	C3N-01415_TP	962960	5508330	129578292	344	25630											
OR52N1	0	.	GRCh38	chr11	5788519	5788519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaaagaacatctgggcgaGgcaggctttaaaatcaatct	15	8	9	9	1	3	1	1	0	2	1	3	2	3	1	0	3	1	2	0	3	5	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.298C>A	p.Leu100Ile	p.L100I	ENST00000317078	1/1	496	414	82	586	586	0	strelka-varscan-mutect	OR52N1,missense_variant,p.Leu100Ile,ENST00000317078,NM_001001913.1;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	T	ENST00000317078	Transcript	missense_variant	298/963	298/963	100/320	L/I	Ctc/Atc		1		-1	OR52N1	HGNC	HGNC:14853	protein_coding	YES	CCDS31398.1	ENSP00000322823	Q8NH53		UPI0000041BDD	NM_001001913.1	deleterious(0.03)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF145,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	78	5788519	5788519	G	T	1	0	0	0	0	1	0	0	0	11200	1000	35	2		2	OR52N1	11	5788519	Missense_Mutation	SNP	G	C3N-01415_TP	280189	5788519	129298103	345	25631											
OR2D2	0	.	GRCh38	chr11	6891798	6891798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtagaaaatgccttgaGactccccacagttgacttca	13	9	8	11	0	1	3	1	2	0	2	2	4	2	3	3	1	1	2	3	1	3	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.703C>A	p.Leu235Ile	p.L235I	ENST00000299459	1/1	222	204	18	270	270	0	strelka-varscan-mutect	OR2D2,missense_variant,p.Leu235Ile,ENST00000299459,NM_003700.1;RP11-413N10.3,intron_variant,,ENST00000637205,;	T	ENST00000299459	Transcript	missense_variant	802/1110	703/927	235/308	L/I	Ctc/Atc		1		-1	OR2D2	HGNC	HGNC:8244	protein_coding	YES	CCDS31416.1	ENSP00000299459	Q9H210	A0A126GVN9	UPI0000061F0B	NM_003700.1	tolerated(0.34)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF156,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	78	6891798	6891798	G	T	1	0	0	0	0	1	0	0	0	11073	942	33	2		2	OR2D2	11	6891798	Missense_Mutation	SNP	G	C3N-01415_TP	1103279	6891798	128194824	346	25632											
RBMXL2	0	.	GRCh38	chr11	7089685	7089685	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccgtgcgggggcgagacGgctactcaggcccaccgcgc	5	4	17	15	6	1	1	1	0	0	1	1	2	1	1	3	5	2	1	3	5	1	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.565G>C	p.Gly189Arg	p.G189R	ENST00000306904	1/1	99	85	14	82	82	0	strelka-varscan-mutect	RBMXL2,missense_variant,p.Gly189Arg,ENST00000306904,NM_014469.4;	C	ENST00000306904	Transcript	missense_variant	659/1874	565/1179	189/392	G/R	Ggc/Cgc		1		1	RBMXL2	HGNC	HGNC:17886	protein_coding	YES	CCDS7777.1	ENSP00000304139	O75526		UPI000013EBA5	NM_014469.4	deleterious(0.03)		1/1		Pfam_domain:PF08081																	MODERATE	1	SNV				1										PASS		rs1443508314	.												C	3	2	78	7089685	7089685	G	C	1	0	0	0	0	1	0	0	0	13320	1116	39	4		4	RBMXL2	11	7089685	Missense_Mutation	SNP	G	C3N-01415_TP	197887	7089685	127996937	347	25633											
NLRP10	0	.	GRCh38	chr11	7961091	7961091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtctttccagtgccagccGacccctgtagcacaactaag	9	10	8	14	1	1	0	0	0	1	0	2	1	2	0	5	0	4	2	5	0	3	4			C3N-01415_TP	C3N-01415_NB	G	G																c.521C>T	p.Ser174Leu	p.S174L	ENST00000328600	2/2	240	224	16	259	259	0	strelka-varscan-mutect	NLRP10,missense_variant,p.Ser174Leu,ENST00000328600,NM_176821.3;NLRP10,downstream_gene_variant,,ENST00000526590,;	A	ENST00000328600	Transcript	missense_variant	683/2350	521/1968	174/655	S/L	tCg/tTg	COSM429951	1		-1	NLRP10	HGNC	HGNC:21464	protein_coding	YES	CCDS7784.1	ENSP00000327763	Q86W26		UPI0000167F6C	NM_176821.3	tolerated(0.06)		2/2		PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF142,Pfam_domain:PF05729,Gene3D:3.40.50.300,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		rs1186100956	.												A	3	1	78	7961091	7961091	G	A	1	0	0	0	0	1	0	0	0	10509	1059	37	1		1	NLRP10	11	7961091	Missense_Mutation	SNP	G	C3N-01415_TP	871406	7961091	127125531	348	25634											
ST5	0	.	GRCh38	chr11	8730770	8730770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgggcgacgcctctcggcGaccttcccatgctgatatct	5	10	10	16	4	2	1	0	1	2	0	4	3	3	1	4	2	1	1	4	2	1	2	rs149905155		C3N-01415_TP	C3N-01415_NB	G	G																c.520C>T	p.Arg174Cys	p.R174C	ENST00000534127	6/23	386	331	55	421	420	1	strelka-varscan-mutect	ST5,missense_variant,p.Arg174Cys,ENST00000534127,NM_005418.3;ST5,missense_variant,p.Arg174Cys,ENST00000313726,NM_213618.1;ST5,intron_variant,,ENST00000526757,NM_139157.2;ST5,intron_variant,,ENST00000530438,;ST5,intron_variant,,ENST00000626808,;ST5,intron_variant,,ENST00000528527,;ST5,intron_variant,,ENST00000526057,;ST5,intron_variant,,ENST00000528196,;ST5,intron_variant,,ENST00000530580,;ST5,intron_variant,,ENST00000533225,;ST5,intron_variant,,ENST00000527510,;ST5,intron_variant,,ENST00000526126,;ST5,intron_variant,,ENST00000531093,;ST5,downstream_gene_variant,,ENST00000526155,;ST5,upstream_gene_variant,,ENST00000530593,;ST5,downstream_gene_variant,,ENST00000533016,;ST5,downstream_gene_variant,,ENST00000530959,;ST5,downstream_gene_variant,,ENST00000534665,;ST5,downstream_gene_variant,,ENST00000533681,;ST5,downstream_gene_variant,,ENST00000527516,;ST5,downstream_gene_variant,,ENST00000524757,;ST5,downstream_gene_variant,,ENST00000525169,;ST5,downstream_gene_variant,,ENST00000527392,;ST5,downstream_gene_variant,,ENST00000527347,;ST5,downstream_gene_variant,,ENST00000534248,;ST5,downstream_gene_variant,,ENST00000527930,;ST5,downstream_gene_variant,,ENST00000528523,;ST5,downstream_gene_variant,,ENST00000533471,;ST5,downstream_gene_variant,,ENST00000526828,;ST5,downstream_gene_variant,,ENST00000533580,;ST5,downstream_gene_variant,,ENST00000530938,;ST5,downstream_gene_variant,,ENST00000526241,;ST5,downstream_gene_variant,,ENST00000527473,;ST5,intron_variant,,ENST00000533425,;ST5,intron_variant,,ENST00000532651,;ST5,intron_variant,,ENST00000526221,;ST5,downstream_gene_variant,,ENST00000534783,;ST5,downstream_gene_variant,,ENST00000529940,;ST5,intron_variant,,ENST00000532734,;ST5,upstream_gene_variant,,ENST00000527870,;	A	ENST00000534127	Transcript	missense_variant	906/4545	520/3414	174/1137	R/C	Cgc/Tgc	rs149905155	1		-1	ST5	HGNC	HGNC:11350	protein_coding	YES	CCDS7791.1	ENSP00000433528	P78524		UPI00001AECB8	NM_005418.3	deleterious(0)		6/23		hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF5																	MODERATE	1	SNV	1			1										PASS		rs149905155	.												A	3	1	78	8730770	8730770	G	A	1	0	0	0	0	1	0	0	0	15598	1058	37	1		1	ST5	11	8730770	Missense_Mutation	SNP	G	C3N-01415_TP	769679	8730770	126355852	349	25635											
AMPD3	0	.	GRCh38	chr11	10494952	10494952	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactccaaatacaaccctgtGggggccagtgagctgcgtga	11	7	12	11	1	0	2	0	2	0	0	1	2	1	2	3	2	5	1	3	2	4	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1215G>T	p.=	p.V405V	ENST00000396554	8/15	595	444	151	572	571	1	strelka-varscan-mutect	AMPD3,synonymous_variant,p.=,ENST00000444303,NM_001172431.1;AMPD3,synonymous_variant,p.=,ENST00000396554,NM_000480.2;AMPD3,synonymous_variant,p.=,ENST00000396553,NM_001025389.1;AMPD3,synonymous_variant,p.=,ENST00000529507,NM_001172430.1;AMPD3,synonymous_variant,p.=,ENST00000528723,NM_001025390.1;AMPD3,upstream_gene_variant,,ENST00000530864,;AMPD3,synonymous_variant,p.=,ENST00000529834,;AMPD3,3_prime_UTR_variant,,ENST00000534047,;AMPD3,3_prime_UTR_variant,,ENST00000533116,;	T	ENST00000396554	Transcript	synonymous_variant	1556/3806	1215/2331	405/776	V	gtG/gtT		1		1	AMPD3	HGNC	HGNC:470	protein_coding	YES	CCDS7802.1	ENSP00000379802	Q01432		UPI0000161AFD	NM_000480.2			8/15		hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF2,PIRSF_domain:PIRSF001251,Pfam_domain:PF00962,Gene3D:3.20.20.140,TIGRFAM_domain:TIGR01429,Superfamily_domains:SSF51556																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	10494952	10494952	G	T	1	0	0	0	0	0	0	0	1	685	1335	47	2		2	AMPD3	11	10494952	Silent	SNP	G	C3N-01415_TP	1764182	10494952	124591670	350	25636											
OTOG	0	.	GRCh38	chr11	17572158	17572158	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgcttgctccccgctGgtctctggctcccctctgga	1	14	9	17	1	3	0	0	0	3	0	6	1	5	1	4	3	2	4	4	3	0	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2070G>T	p.=	p.L690L	ENST00000399391	17/55	260	221	39	264	263	1	strelka-varscan-mutect	OTOG,synonymous_variant,p.=,ENST00000399397,NM_001292063.1;OTOG,synonymous_variant,p.=,ENST00000399391,NM_001277269.1;OTOG,downstream_gene_variant,,ENST00000498332,;	T	ENST00000399391	Transcript	synonymous_variant	2070/8778	2070/8778	690/2925	L	ctG/ctT		1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1			17/55		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	78	17572158	17572158	G	T	1	0	0	0	0	0	0	0	1	11370	1335	47	2		2	OTOG	11	17572158	Silent	SNP	G	C3N-01415_TP	7077206	17572158	117514464	351	25637											
MRGPRX4	0	.	GRCh38	chr11	18173464	18173464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctacatcctcaacctggccGcagcagacttcctcttcctc	7	11	5	18	1	3	1	1	0	2	1	7	1	6	1	5	1	3	2	5	1	2	3			C3N-01415_TP	C3N-01415_NB	G	G																c.208G>T	p.Ala70Ser	p.A70S	ENST00000314254	1/1	203	189	14	240	240	0	varscan-mutect	MRGPRX4,missense_variant,p.Ala70Ser,ENST00000314254,NM_054032.3;MRGPRX4,missense_variant,p.Ala70Ser,ENST00000618161,;RP11-113D6.6,intron_variant,,ENST00000527671,;	T	ENST00000314254	Transcript	missense_variant	628/1444	208/969	70/322	A/S	Gca/Tca	COSM687016	1		1	MRGPRX4	HGNC	HGNC:17617	protein_coding	YES	CCDS7831.1	ENSP00000314042	Q96LA9		UPI0000061F60	NM_054032.3	tolerated(0.18)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF23,hmmpanther:PTHR11334,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE		SNV			1	1										PASS		rs1043434232	.												T	3	4	78	18173464	18173464	G	T	1	0	0	0	0	1	0	0	0	9736	1087	38	1		1	MRGPRX4	11	18173464	Missense_Mutation	SNP	G	C3N-01415_TP	601306	18173464	116913158	352	25638											
UEVLD	0	.	GRCh38	chr11	18578805	18578805	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagttaggtccctgaactTgtactgaaaagagaaaaata	17	9	8	7	0	0	3	0	2	0	1	1	4	1	3	1	1	2	2	1	1	8	4	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.46A>T	p.Lys16Ter	p.K16*	ENST00000396197	2/12	246	214	32	256	256	0	strelka-varscan-mutect	UEVLD,stop_gained,p.Lys16Ter,ENST00000396197,NM_001040697.2;UEVLD,stop_gained,p.Lys16Ter,ENST00000543987,NM_018314.4;UEVLD,stop_gained,p.Lys16Ter,ENST00000379387,NM_001261382.1;UEVLD,stop_gained,p.Lys16Ter,ENST00000320750,NM_001261383.1;UEVLD,stop_gained,p.Lys16Ter,ENST00000300038,NM_001297771.1;UEVLD,stop_gained,p.Lys16Ter,ENST00000541984,NM_001261386.1;UEVLD,5_prime_UTR_variant,,ENST00000535484,NM_001261385.1;UEVLD,non_coding_transcript_exon_variant,,ENST00000490736,;UEVLD,intron_variant,,ENST00000540666,;UEVLD,intron_variant,,ENST00000540917,;UEVLD,stop_gained,p.Lys16Ter,ENST00000396196,;UEVLD,non_coding_transcript_exon_variant,,ENST00000535340,;	A	ENST00000396197	Transcript	stop_gained	75/4156	46/1416	16/471	K/*	Aag/Tag		1		-1	UEVLD	HGNC	HGNC:30866	protein_coding	YES	CCDS41624.1	ENSP00000379500	Q8IX04		UPI00001AF2D2	NM_001040697.2			2/12		PROSITE_profiles:PS51322,hmmpanther:PTHR23306:SF18,hmmpanther:PTHR23306,Gene3D:3.10.110.10,Superfamily_domains:SSF54495																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	78	18578805	18578805	T	A	1	0	0	0	0	0	1	0	0	17457	1826	63	4		4	UEVLD	11	18578805	Nonsense_Mutation	SNP	T	C3N-01415_TP	405341	18578805	116507817	353	25639											
SPTY2D1	0	.	GRCh38	chr11	18612455	18612455	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcatattctcgctgccttTtgtaaccagtagggaaggga	9	13	10	9	1	2	0	1	0	1	0	3	2	2	2	2	2	2	3	2	2	4	7	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.1745A>G	p.Lys582Arg	p.K582R	ENST00000336349	4/6	147	132	15	181	181	0	strelka-varscan-mutect	SPTY2D1,missense_variant,p.Lys582Arg,ENST00000336349,NM_194285.2;SPTY2D1-AS1,downstream_gene_variant,,ENST00000636011,;SPTY2D1,downstream_gene_variant,,ENST00000543776,;SPTY2D1,non_coding_transcript_exon_variant,,ENST00000536336,;SPTY2D1-AS1,downstream_gene_variant,,ENST00000501599,;	C	ENST00000336349	Transcript	missense_variant	1981/5754	1745/2058	582/685	K/R	aAa/aGa		1		-1	SPTY2D1	HGNC	HGNC:26818	protein_coding	YES	CCDS31441.1	ENSP00000337991	Q68D10		UPI00001607F0	NM_194285.2	tolerated(0.08)		4/6		Pfam_domain:PF08243,hmmpanther:PTHR22691,hmmpanther:PTHR22691:SF8,SMART_domains:SM00784																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	18612455	18612455	T	C	1	0	0	0	0	1	0	0	0	15484	1841	64	5		5	SPTY2D1	11	18612455	Missense_Mutation	SNP	T	C3N-01415_TP	33650	18612455	116474167	354	25640											
GAS2	0	.	GRCh38	chr11	22755914	22755914	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtggagcggctctcccaAggaagataccgagtgggaga	10	7	16	8	2	1	2	0	0	1	2	2	6	1	4	2	4	2	1	2	4	3	1	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.684A>T	p.Gln228His	p.Q228H	ENST00000454584	7/8	299	234	65	325	325	0	strelka-varscan-mutect	GAS2,missense_variant,p.Gln228His,ENST00000454584,NM_001143830.1;GAS2,missense_variant,p.Gln228His,ENST00000278187,NM_177553.2,NM_005256.3;GAS2,non_coding_transcript_exon_variant,,ENST00000526665,;GAS2,3_prime_UTR_variant,,ENST00000524701,;	T	ENST00000454584	Transcript	missense_variant	989/2286	684/942	228/313	Q/H	caA/caT		1		1	GAS2	HGNC	HGNC:4167	protein_coding	YES	CCDS7858.1	ENSP00000401145	O43903		UPI000000D98C	NM_001143830.1	deleterious(0.01)		7/8		PROSITE_profiles:PS51460,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF298,Gene3D:1v5rA00,Pfam_domain:PF02187,SMART_domains:SM00243,Superfamily_domains:0050058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	22755914	22755914	A	T	1	0	0	0	0	1	0	0	0	6115	69	3	4		4	GAS2	11	22755914	Missense_Mutation	SNP	A	C3N-01415_TP	4143459	22755914	112330708	355	25641											
METTL15	0	.	GRCh38	chr11	28330409	28330409	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttaggagcatttcctccCtctgctatttatacacggaa	9	15	7	10	1	1	0	0	0	1	0	3	2	3	2	2	2	3	3	2	2	5	7	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.792C>T	p.=	p.P264P	ENST00000407364	7/7	141	108	33	153	153	0	strelka-varscan-mutect	METTL15,missense_variant,p.Leu250Phe,ENST00000406787,NM_001297775.1;METTL15,synonymous_variant,p.=,ENST00000407364,NM_001113528.1;METTL15,3_prime_UTR_variant,,ENST00000303459,NM_152636.2;METTL15,3_prime_UTR_variant,,ENST00000451385,;METTL15,non_coding_transcript_exon_variant,,ENST00000468295,;METTL15,intron_variant,,ENST00000532947,;METTL15,intron_variant,,ENST00000634973,;METTL15,intron_variant,,ENST00000634627,;	T	ENST00000407364	Transcript	synonymous_variant	1144/4242	792/1224	264/407	P	ccC/ccT		1		1	METTL15	HGNC	HGNC:26606	protein_coding	YES	CCDS44559.1	ENSP00000384369	A6NJ78		UPI0000DBEF34	NM_001113528.1			7/7		Gene3D:1m6yA02,HAMAP:MF_01007,Pfam_domain:PF01795,hmmpanther:PTHR11265,hmmpanther:PTHR11265:SF0,Superfamily_domains:SSF81799,TIGRFAM_domain:TIGR00006																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	78	28330409	28330409	C	T	1	0	0	0	0	0	0	0	1	9441	681	24	3		3	METTL15	11	28330409	Silent	SNP	C	C3N-01415_TP	5574495	28330409	106756213	356	25642											
ELP4	0	.	GRCh38	chr11	31594876	31594876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagatgaaaatagcttggcGttaccagttattacccaaga	15	11	8	7	1	0	3	0	1	0	2	0	3	0	3	2	1	3	3	2	1	8	6	rs199901084		C3N-01415_TP	C3N-01415_NB	G	G																c.488G>T	p.Arg163Leu	p.R163L	ENST00000395934	4/12	207	168	39	262	261	1	strelka-varscan-mutect	ELP4,missense_variant,p.Arg163Leu,ENST00000395934,NM_001288726.1;ELP4,missense_variant,p.Arg163Leu,ENST00000350638,NM_019040.4;ELP4,missense_variant,p.Arg163Leu,ENST00000379163,NM_001288725.1;ELP4,missense_variant,p.Arg163Leu,ENST00000474374,;	T	ENST00000395934	Transcript	missense_variant	495/1961	488/1608	163/535	R/L	cGt/cTt	rs199901084	1		1	ELP4	HGNC	HGNC:1171	protein_coding	YES	CCDS73272.1	ENSP00000379267		G5E9D4	UPI000013FA14	NM_001288726.1	deleterious(0.01)		4/12		hmmpanther:PTHR12896,Pfam_domain:PF05625																	MODERATE	1	SNV	1			1										PASS		rs199901084	.												T	3	4	78	31594876	31594876	G	T	1	0	0	0	0	1	0	0	0	4916	1145	40	1		1	ELP4	11	31594876	Missense_Mutation	SNP	G	C3N-01415_TP	3264467	31594876	103491746	357	25643											
RAG1	0	.	GRCh38	chr11	36574245	36574245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaagcatgtcttttgccGggtctgcattctcagatgcc	6	14	10	11	1	3	1	1	0	3	1	4	1	3	1	2	1	4	3	2	1	1	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.941G>T	p.Arg314Leu	p.R314L	ENST00000299440	2/2	468	424	44	543	542	1	strelka-varscan-mutect	RAG1,missense_variant,p.Arg314Leu,ENST00000299440,NM_000448.2;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,missense_variant,p.Arg314Leu,ENST00000534663,;	T	ENST00000299440	Transcript	missense_variant	1053/6564	941/3132	314/1043	R/L	cGg/cTg		1		1	RAG1	HGNC	HGNC:9831	protein_coding	YES	CCDS7902.1	ENSP00000299440	P15918		UPI000013E5A0	NM_000448.2	deleterious_low_confidence(0)		2/2		Gene3D:3.30.40.10,Pfam_domain:PF00097,PROSITE_patterns:PS00518,PROSITE_profiles:PS50089,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0,SMART_domains:SM00184,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		rs1206270386	.												T	3	4	78	36574245	36574245	G	T	1	0	0	0	0	1	0	0	0	13164	1116	39	1		1	RAG1	11	36574245	Missense_Mutation	SNP	G	C3N-01415_TP	4979369	36574245	98512377	358	25644											
RAG1	0	.	GRCh38	chr11	36575434	36575434	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcaggggcaccggctaTgatgaaaaacttgtgcggga	11	9	13	8	2	2	2	1	2	1	0	2	3	2	3	1	4	2	2	1	4	3	3	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.2130T>C	p.=	p.Y710Y	ENST00000299440	2/2	222	179	43	307	307	0	strelka-varscan-mutect	RAG1,synonymous_variant,p.=,ENST00000299440,NM_000448.2;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,synonymous_variant,p.=,ENST00000534663,;	C	ENST00000299440	Transcript	synonymous_variant	2242/6564	2130/3132	710/1043	Y	taT/taC		1		1	RAG1	HGNC	HGNC:9831	protein_coding	YES	CCDS7902.1	ENSP00000299440	P15918		UPI000013E5A0	NM_000448.2			2/2		Pfam_domain:PF12940,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	78	36575434	36575434	T	C	1	0	0	0	0	0	0	0	1	13164	1471	51	5		5	RAG1	11	36575434	Silent	SNP	T	C3N-01415_TP	1189	36575434	98511188	359	25645											
RAG1	0	.	GRCh38	chr11	36575483	36575483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgaggcttctggctcaGtctacatttgtactctttgt	5	16	9	11	1	4	0	1	0	3	0	5	1	4	0	1	2	2	3	1	2	2	5	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2179G>T	p.Val727Phe	p.V727F	ENST00000299440	2/2	304	259	45	367	367	0	strelka-varscan-mutect	RAG1,missense_variant,p.Val727Phe,ENST00000299440,NM_000448.2;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,missense_variant,p.Val727Phe,ENST00000534663,;	T	ENST00000299440	Transcript	missense_variant	2291/6564	2179/3132	727/1043	V/F	Gtc/Ttc		1		1	RAG1	HGNC	HGNC:9831	protein_coding	YES	CCDS7902.1	ENSP00000299440	P15918		UPI000013E5A0	NM_000448.2	deleterious_low_confidence(0)		2/2		Pfam_domain:PF12940,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	36575483	36575483	G	T	1	0	0	0	0	1	0	0	0	13164	1029	36	2		2	RAG1	11	36575483	Missense_Mutation	SNP	G	C3N-01415_TP	49	36575483	98511139	360	25646											
LRRC4C	0	.	GRCh38	chr11	40115138	40115138	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttccatttggagtaatccaAgatacagatgtcagggatgt	12	12	11	6	0	1	2	1	0	0	2	3	4	3	4	2	2	1	2	2	2	3	4	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.1155T>A	p.=	p.S385S	ENST00000278198	2/2	310	283	27	335	335	0	strelka-varscan-mutect	LRRC4C,synonymous_variant,p.=,ENST00000278198,;LRRC4C,synonymous_variant,p.=,ENST00000527150,;LRRC4C,synonymous_variant,p.=,ENST00000530763,NM_020929.2;LRRC4C,synonymous_variant,p.=,ENST00000528697,NM_001258419.1;LRRC4C,synonymous_variant,p.=,ENST00000619527,;LRRC4C,downstream_gene_variant,,ENST00000533474,;RP11-454H19.2,upstream_gene_variant,,ENST00000624239,;	T	ENST00000278198	Transcript	synonymous_variant	3119/4054	1155/1923	385/640	S	tcT/tcA		1		-1	LRRC4C	HGNC	HGNC:29317	protein_coding	YES	CCDS31464.1	ENSP00000278198	Q9HCJ2		UPI000000D9A7				2/2		PROSITE_profiles:PS50835,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF8,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	40115138	40115138	A	T	1	0	0	0	0	0	0	0	1	8903	59	3	4		4	LRRC4C	11	40115138	Silent	SNP	A	C3N-01415_TP	3539655	40115138	94971484	361	25647											
OR4C6	0	.	GRCh38	chr11	55665576	55665576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgatcatcatgagtccacGggtgtgctgcctaatggtag	9	10	12	10	2	2	1	2	1	0	0	3	2	3	1	2	2	2	2	2	2	2	2	rs759529017		C3N-01415_TP	C3N-01415_NB	G	G																c.410G>T	p.Arg137Leu	p.R137L	ENST00000314259	1/1	275	210	65	335	334	1	strelka-varscan-mutect	OR4C6,missense_variant,p.Arg137Leu,ENST00000314259,NM_001004704.1;	T	ENST00000314259	Transcript	missense_variant	410/930	410/930	137/309	R/L	cGg/cTg	rs759529017,COSM3953272,COSM5664821	1		1	OR4C6	HGNC	HGNC:14743	protein_coding	YES	CCDS31506.1	ENSP00000324769	Q8NH72	A0A126GVN0	UPI0000041868	NM_001004704.1	deleterious_low_confidence(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF80,Superfamily_domains:SSF81321											0,1,1						MODERATE	1	SNV			0,1,1	1										PASS		rs759529017	.												T	3	4	78	55665576	55665576	G	T	1	0	0	0	0	1	0	0	0	11129	1116	39	1		1	OR4C6	11	55665576	Missense_Mutation	SNP	G	C3N-01415_TP	15550438	55665576	79421046	362	25648											
OR5D18	0	.	GRCh38	chr11	55820457	55820457	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagtcaaagtggcctcTgtgttttacaccgtggtgat	9	12	10	10	1	2	1	1	1	1	0	2	1	2	1	2	2	1	1	2	2	2	2	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.828T>C	p.=	p.S276S	ENST00000333976	1/1	310	278	32	372	372	0	strelka-varscan-mutect	OR5D18,synonymous_variant,p.=,ENST00000333976,NM_001001952.1;	C	ENST00000333976	Transcript	synonymous_variant	828/942	828/942	276/313	S	tcT/tcC		1		1	OR5D18	HGNC	HGNC:15285	protein_coding	YES	CCDS31510.1	ENSP00000335025	Q8NGL1		UPI0000046197	NM_001001952.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												C	2	2	78	55820457	55820457	T	C	1	0	0	0	0	0	0	0	1	11227	1567	55	5		5	OR5D18	11	55820457	Silent	SNP	T	C3N-01415_TP	154881	55820457	79266165	363	25649											
OR5I1	0	.	GRCh38	chr11	55935831	55935831	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaattgttgtgtcagtgcaGgatagtttaagcaggggagg	10	13	15	3	0	1	0	1	0	0	0	1	2	1	2	0	4	2	4	0	4	3	6	rs758297822		C3N-01415_TP	C3N-01415_NB	G	G																c.570C>A	p.=	p.S190S	ENST00000301532	1/1	226	207	19	294	294	0	strelka-varscan-mutect	OR5I1,synonymous_variant,p.=,ENST00000301532,NM_006637.1;	T	ENST00000301532	Transcript	synonymous_variant	570/945	570/945	190/314	S	tcC/tcA	rs758297822	1		-1	OR5I1	HGNC	HGNC:8347	protein_coding	YES	CCDS7949.1	ENSP00000301532	Q13606	A0A126GVE5	UPI00000405D5	NM_006637.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF69,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	LOW	1	SNV				1										PASS		rs758297822	.												T	2	4	78	55935831	55935831	G	T	1	0	0	0	0	0	0	0	1	11234	987	35	2		2	OR5I1	11	55935831	Silent	SNP	G	C3N-01415_TP	115374	55935831	79150791	364	25650											
OR5F1	0	.	GRCh38	chr11	55994046	55994046	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacttatgctttctttcaGgattgtgtcagaacaagaga	13	13	9	6	0	3	3	2	0	1	3	3	5	3	4	0	1	3	1	0	1	4	4	rs752470605		C3N-01415_TP	C3N-01415_NB	G	G																c.580C>T	p.=	p.L194L	ENST00000278409	1/1	309	279	30	340	340	0	strelka-varscan-mutect	OR5F1,synonymous_variant,p.=,ENST00000278409,NM_003697.1;	A	ENST00000278409	Transcript	synonymous_variant	580/945	580/945	194/314	L	Ctg/Ttg	rs752470605	1		-1	OR5F1	HGNC	HGNC:8343	protein_coding	YES	CCDS31515.1	ENSP00000278409	O95221		UPI0000041D19	NM_003697.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF168,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs752470605	.												A	2	1	78	55994046	55994046	G	A	1	0	0	0	0	0	0	0	1	11228	991	35	3		3	OR5F1	11	55994046	Silent	SNP	G	C3N-01415_TP	58215	55994046	79092576	365	25651											
OR8I2	0	.	GRCh38	chr11	56093713	56093713	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttactgtattcagtagtcAtgtcccaaaaagtgtccaac	12	12	6	11	0	2	0	2	0	0	0	4	0	4	0	3	0	2	2	3	0	6	4	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.406A>T	p.Met136Leu	p.M136L	ENST00000302124	1/1	245	220	25	284	283	1	strelka-varscan-mutect	OR8I2,missense_variant,p.Met136Leu,ENST00000302124,NM_001003750.1;OR8I4P,downstream_gene_variant,,ENST00000526965,;	T	ENST00000302124	Transcript	missense_variant	406/933	406/933	136/310	M/L	Atg/Ttg		1		1	OR8I2	HGNC	HGNC:15310	protein_coding	YES	CCDS31517.1	ENSP00000303864	Q8N0Y5		UPI0000041D16	NM_001003750.1	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs1207549624	.												T	3	4	78	56093713	56093713	A	T	1	0	0	0	0	1	0	0	0	11308	217	8	4		4	OR8I2	11	56093713	Missense_Mutation	SNP	A	C3N-01415_TP	99667	56093713	78992909	366	25652											
OR8J3	0	.	GRCh38	chr11	56136859	56136859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctcaggctgtagatcaagGgattcagcataggaatcacc	12	9	10	10	0	4	1	4	0	0	1	5	3	5	3	2	3	1	3	2	3	4	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.860C>A	p.Pro287His	p.P287H	ENST00000301529	1/1	182	151	31	212	212	0	strelka-varscan-mutect	OR8J3,missense_variant,p.Pro287His,ENST00000301529,NM_001004064.1;OR5BN1P,upstream_gene_variant,,ENST00000532955,;	T	ENST00000301529	Transcript	missense_variant	860/948	860/948	287/315	P/H	cCc/cAc		1		-1	OR8J3	HGNC	HGNC:15312	protein_coding	YES	CCDS31520.1	ENSP00000301529	Q8NGG0	A0A126GVE3	UPI0000061E99	NM_001004064.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF249,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	78	56136859	56136859	G	T	1	0	0	0	0	1	0	0	0	11310	1232	43	2		2	OR8J3	11	56136859	Missense_Mutation	SNP	G	C3N-01415_TP	43146	56136859	78949763	367	25653											
OR8H1	0	.	GRCh38	chr11	56290699	56290699	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggactgcagatagctacgtAgcgatcataggccattgatg	12	9	12	8	2	1	2	1	1	0	1	1	4	1	3	1	2	4	3	1	2	4	5	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.364T>A	p.Tyr122Asn	p.Y122N	ENST00000313022	1/1	218	169	49	308	308	0	strelka-varscan-mutect	OR8H1,missense_variant,p.Tyr122Asn,ENST00000313022,NM_001005199.1;OR8H1,missense_variant,p.Tyr118Asn,ENST00000610894,;	T	ENST00000313022	Transcript	missense_variant	392/1038	364/936	122/311	Y/N	Tac/Aac		1		-1	OR8H1	HGNC	HGNC:14824	protein_coding	YES	CCDS31526.1	ENSP00000323595	Q8NGG4	A0A126GVW6	UPI0000041BC0	NM_001005199.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF11,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs1402858145	.												T	3	4	78	56290699	56290699	A	T	1	0	0	0	0	1	0	0	0	11305	420	15	4		4	OR8H1	11	56290699	Missense_Mutation	SNP	A	C3N-01415_TP	153840	56290699	78795923	368	25654											
OR10Q1	0	.	GRCh38	chr11	58228632	58228632	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttggaaagcatcaagggtaCtaccacggtggtgtagcaga	12	8	14	7	1	1	1	1	0	0	1	1	2	1	2	1	4	4	5	1	4	5	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.244G>T	p.Val82Leu	p.V82L	ENST00000316770	1/1	320	247	73	344	344	0	strelka-varscan-mutect	OR10Q1,missense_variant,p.Val82Leu,ENST00000316770,NM_001004471.2;	A	ENST00000316770	Transcript	missense_variant	287/1037	244/960	82/319	V/L	Gta/Tta		1		-1	OR10Q1	HGNC	HGNC:15134	protein_coding	YES	CCDS31547.1	ENSP00000314324	Q8NGQ4		UPI0000041C4C	NM_001004471.2	tolerated(0.06)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF253,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	78	58228632	58228632	C	A	1	0	0	0	0	1	0	0	0	10993	565	20	2		2	OR10Q1	11	58228632	Missense_Mutation	SNP	C	C3N-01415_TP	1937933	58228632	76857990	369	25655											
OR5AN1	0	.	GRCh38	chr11	59364905	59364905	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggatggtactgggagcCtacatgactggcctcactgc	7	11	13	10	0	1	1	1	1	0	0	1	3	1	3	2	4	4	2	2	4	2	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.447C>A	p.=	p.A149A	ENST00000313940	1/1	196	183	13	225	225	0	strelka-varscan-mutect	OR5AN1,synonymous_variant,p.=,ENST00000313940,NM_001004729.1;	A	ENST00000313940	Transcript	synonymous_variant	494/1037	447/936	149/311	A	gcC/gcA		1		1	OR5AN1	HGNC	HGNC:15255	protein_coding	YES	CCDS31559.1	ENSP00000320302	Q8NGI8	A0A126GVP9	UPI000004B1FD	NM_001004729.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF262,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												A	2	1	78	59364905	59364905	C	A	1	0	0	0	0	0	0	0	1	11215	668	24	2		2	OR5AN1	11	59364905	Silent	SNP	C	C3N-01415_TP	1136273	59364905	75721717	370	25656											
AHNAK	0	.	GRCh38	chr11	62532183	62532183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggcatcttcaagtgcCagtctgggccatgaacatcc	8	11	10	12	0	4	1	1	1	3	0	5	1	5	1	3	2	2	1	3	2	2	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.2234G>T	p.Trp745Leu	p.W745L	ENST00000378024	5/5	412	318	94	480	480	0	strelka-varscan-mutect	AHNAK,missense_variant,p.Trp745Leu,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,downstream_gene_variant,,ENST00000530285,;AHNAK,downstream_gene_variant,,ENST00000531324,;AHNAK,downstream_gene_variant,,ENST00000528508,;	A	ENST00000378024	Transcript	missense_variant	2509/18787	2234/17673	745/5890	W/L	tGg/tTg		1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2	tolerated(0.65)		5/5		hmmpanther:PTHR23348:SF41,hmmpanther:PTHR23348																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	78	62532183	62532183	C	A	1	0	0	0	0	1	0	0	0	491	595	21	2		2	AHNAK	11	62532183	Missense_Mutation	SNP	C	C3N-01415_TP	3167278	62532183	72554439	371	25657											
DNAJC4	0	.	GRCh38	chr11	64232744	64232744	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagtactggtcccagtttCacagcgtgaggccacagggg	9	7	13	12	1	1	1	1	1	0	0	2	1	2	1	2	4	2	2	2	4	1	2			C3N-01415_TP	C3N-01415_NB	C	C																c.409C>G	p.His137Asp	p.H137D	ENST00000321460	4/5	63	57	6	55	55	0	strelka-varscan-mutect	DNAJC4,missense_variant,p.His136Asp,ENST00000321685,NM_005528.3;DNAJC4,missense_variant,p.His137Asp,ENST00000321460,NM_001307980.1;DNAJC4,missense_variant,p.His74Asp,ENST00000535246,;DNAJC4,intron_variant,,ENST00000628077,;DNAJC4,intron_variant,,ENST00000355040,;VEGFB,upstream_gene_variant,,ENST00000309422,NM_003377.4;NUDT22,downstream_gene_variant,,ENST00000279206,NM_001128612.2,NM_032344.3;NUDT22,downstream_gene_variant,,ENST00000441250,NM_001271831.1,NM_001128613.2;VEGFB,upstream_gene_variant,,ENST00000426086,NM_001243733.1;NUDT22,downstream_gene_variant,,ENST00000428347,;VEGFB,upstream_gene_variant,,ENST00000541681,;RP11-783K16.14,intron_variant,,ENST00000534988,;RP11-783K16.14,intron_variant,,ENST00000539963,;DNAJC4,non_coding_transcript_exon_variant,,ENST00000537109,;DNAJC4,non_coding_transcript_exon_variant,,ENST00000542376,;DNAJC4,non_coding_transcript_exon_variant,,ENST00000538961,;DNAJC4,non_coding_transcript_exon_variant,,ENST00000543791,;NUDT22,downstream_gene_variant,,ENST00000422364,;NUDT22,downstream_gene_variant,,ENST00000535000,;DNAJC4,upstream_gene_variant,,ENST00000540945,;DNAJC4,downstream_gene_variant,,ENST00000536006,;VEGFB,upstream_gene_variant,,ENST00000543462,;NUDT22,downstream_gene_variant,,ENST00000543358,;NUDT22,downstream_gene_variant,,ENST00000534929,;NUDT22,downstream_gene_variant,,ENST00000545184,;NUDT22,downstream_gene_variant,,ENST00000537094,;NUDT22,downstream_gene_variant,,ENST00000543501,;DNAJC4,downstream_gene_variant,,ENST00000543685,;	G	ENST00000321460	Transcript	missense_variant	506/1015	409/750	137/249	H/D	Cac/Gac	COSM4830683,COSM4830684	1		1	DNAJC4	HGNC	HGNC:5271	protein_coding	YES	CCDS76424.1	ENSP00000320548		J3KNJ8	UPI0000140B66	NM_001307980.1	deleterious(0)		4/5													1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	78	64232744	64232744	C	G	1	0	0	0	0	1	0	0	0	4462	826	29	4		4	DNAJC4	11	64232744	Missense_Mutation	SNP	C	C3N-01415_TP	1700561	64232744	70853878	372	25658											
CATSPER1	0	.	GRCh38	chr11	66025651	66025651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggggaaatggtctctccGtgatgaggagactttccatg	9	11	14	7	1	1	4	0	3	1	1	4	6	3	5	2	4	0	0	2	4	1	1	rs753126981		C3N-01415_TP	C3N-01415_NB	G	G																c.729C>A	p.His243Gln	p.H243Q	ENST00000312106	1/12	386	359	27	399	399	0	strelka-varscan-mutect	CATSPER1,missense_variant,p.His243Gln,ENST00000312106,NM_053054.3;CATSPER1,upstream_gene_variant,,ENST00000529244,;	T	ENST00000312106	Transcript	missense_variant	867/2619	729/2343	243/780	H/Q	caC/caA	rs753126981,COSM5516567	1		-1	CATSPER1	HGNC	HGNC:17116	protein_coding	YES	CCDS8127.1	ENSP00000309052	Q8NEC5		UPI000045651C	NM_053054.3	tolerated(0.09)		1/12		hmmpanther:PTHR10037:SF216,hmmpanther:PTHR10037											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs753126981	.												T	3	4	78	66025651	66025651	G	T	1	0	0	0	0	1	0	0	0	2387	1136	40	1		1	CATSPER1	11	66025651	Missense_Mutation	SNP	G	C3N-01415_TP	1792907	66025651	69060971	373	25659											
GAL3ST3	0	.	GRCh38	chr11	66042567	66042567	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaggcgggggattgtccagGacgggctcgggccgagcccg	5	4	20	12	6	0	0	0	0	0	0	2	4	1	2	3	6	1	1	3	6	0	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1236C>A	p.=	p.V412V	ENST00000312006	3/3	147	130	17	136	136	0	strelka-varscan-mutect	GAL3ST3,synonymous_variant,p.=,ENST00000312006,NM_033036.2;GAL3ST3,synonymous_variant,p.=,ENST00000527878,;GAL3ST3,downstream_gene_variant,,ENST00000527048,;	T	ENST00000312006	Transcript	synonymous_variant	1518/2133	1236/1296	412/431	V	gtC/gtA		1		-1	GAL3ST3	HGNC	HGNC:24144	protein_coding	YES	CCDS8128.1	ENSP00000308591	Q96A11		UPI0000071842	NM_033036.2			3/3		hmmpanther:PTHR14647:SF1,hmmpanther:PTHR14647																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	66042567	66042567	G	T	1	0	0	0	0	0	0	0	1	6067	1161	41	2		2	GAL3ST3	11	66042567	Silent	SNP	G	C3N-01415_TP	16916	66042567	69044055	374	25660											
TBC1D10C	0	.	GRCh38	chr11	67405095	67405095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacccccaggccgggccacCcacctgcagacctcatccgc	7	3	9	22	2	1	1	1	0	0	1	2	1	2	1	8	2	1	2	8	2	0	0	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.163C>G	p.Pro55Ala	p.P55A	ENST00000542590	2/9	146	134	12	80	80	0	strelka-varscan-mutect	TBC1D10C,missense_variant,p.Pro55Ala,ENST00000542590,NM_198517.3;TBC1D10C,missense_variant,p.Pro55Ala,ENST00000526387,NM_001256508.1;TBC1D10C,missense_variant,p.Pro55Ala,ENST00000312390,;PPP1CA,intron_variant,,ENST00000542876,;PPP1CA,intron_variant,,ENST00000546202,;PPP1CA,upstream_gene_variant,,ENST00000376745,NM_002708.3;PPP1CA,upstream_gene_variant,,ENST00000312989,NM_001008709.1;PPP1CA,upstream_gene_variant,,ENST00000358239,NM_206873.1;PPP1CA,upstream_gene_variant,,ENST00000527663,;PPP1CA,intron_variant,,ENST00000537694,;PPP1CA,upstream_gene_variant,,ENST00000532446,;PPP1CA,upstream_gene_variant,,ENST00000529724,;TBC1D10C,missense_variant,p.Pro55Ala,ENST00000529635,;TBC1D10C,non_coding_transcript_exon_variant,,ENST00000530967,;TBC1D10C,non_coding_transcript_exon_variant,,ENST00000529132,;TBC1D10C,non_coding_transcript_exon_variant,,ENST00000533745,;TBC1D10C,upstream_gene_variant,,ENST00000526474,;PPP1CA,upstream_gene_variant,,ENST00000526510,;TBC1D10C,upstream_gene_variant,,ENST00000524662,;	G	ENST00000542590	Transcript	missense_variant	177/1659	163/1341	55/446	P/A	Cca/Gca		1		1	TBC1D10C	HGNC	HGNC:24702	protein_coding	YES	CCDS8162.1	ENSP00000443654	Q8IV04		UPI00000746CA	NM_198517.3	tolerated(0.58)		2/9		hmmpanther:PTHR22957:SF324,hmmpanther:PTHR22957																	MODERATE	1	SNV	1			1										PASS		rs1369480489	.												G	3	3	78	67405095	67405095	C	G	1	0	0	0	0	1	0	0	0	16000	623	22	4		4	TBC1D10C	11	67405095	Missense_Mutation	SNP	C	C3N-01415_TP	1362528	67405095	67681527	375	25661											
PPP6R3	0	.	GRCh38	chr11	68596187	68596187	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacccagcagtgccaacacGgaggataaaatggaggtgga	15	4	14	8	1	0	0	0	0	0	0	0	5	0	4	2	5	4	1	2	5	4	1	rs369801611		C3N-01415_TP	C3N-01415_NB	G	G																c.2007G>T	p.=	p.T669T	ENST00000393801	19/25	369	320	49	285	285	0	strelka-varscan-mutect	PPP6R3,synonymous_variant,p.=,ENST00000393800,NM_001164161.1;PPP6R3,synonymous_variant,p.=,ENST00000393801,NM_001164160.1;PPP6R3,synonymous_variant,p.=,ENST00000527403,;PPP6R3,synonymous_variant,p.=,ENST00000265636,NM_018312.4;PPP6R3,synonymous_variant,p.=,ENST00000265637,;PPP6R3,synonymous_variant,p.=,ENST00000524904,NM_001164162.1;PPP6R3,synonymous_variant,p.=,ENST00000529710,NM_001164164.1;PPP6R3,synonymous_variant,p.=,ENST00000534534,;PPP6R3,synonymous_variant,p.=,ENST00000524845,NM_001164163.1;PPP6R3,synonymous_variant,p.=,ENST00000534190,;PPP6R3,3_prime_UTR_variant,,ENST00000525421,;PPP6R3,non_coding_transcript_exon_variant,,ENST00000526307,;	T	ENST00000393801	Transcript	synonymous_variant	2222/5069	2007/2640	669/879	T	acG/acT	rs369801611	1		1	PPP6R3	HGNC	HGNC:1173	protein_coding	YES	CCDS53671.1	ENSP00000377390	Q5H9R7		UPI0000688150	NM_001164160.1			19/25		hmmpanther:PTHR12634:SF12,hmmpanther:PTHR12634																	LOW	1	SNV	1			1										PASS		rs369801611	.												T	2	4	78	68596187	68596187	G	T	1	0	0	0	0	0	0	0	1	12536	1103	39	1		1	PPP6R3	11	68596187	Silent	SNP	G	C3N-01415_TP	1191092	68596187	66490435	376	25662											
DGAT2	0	.	GRCh38	chr11	75796464	75796464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaagttcccaggcatacGgccttacctggctacactgg	10	8	10	13	1	0	1	0	0	0	1	1	1	1	1	3	4	3	3	3	4	5	4	rs770570893		C3N-01415_TP	C3N-01415_NB	G	G																c.566G>T	p.Arg189Leu	p.R189L	ENST00000228027	5/8	284	206	78	253	253	0	strelka-varscan-mutect	DGAT2,missense_variant,p.Arg189Leu,ENST00000228027,NM_032564.4;DGAT2,missense_variant,p.Arg146Leu,ENST00000376262,NM_001253891.1;DGAT2,missense_variant,p.Arg143Leu,ENST00000604733,;DGAT2,missense_variant,p.Arg98Leu,ENST00000603276,;DGAT2,missense_variant,p.Arg98Leu,ENST00000604935,;DGAT2,missense_variant,p.Arg98Leu,ENST00000605099,;RP11-535A19.1,downstream_gene_variant,,ENST00000534354,;DGAT2,non_coding_transcript_exon_variant,,ENST00000603363,;DGAT2,non_coding_transcript_exon_variant,,ENST00000603865,;	T	ENST00000228027	Transcript	missense_variant	826/2453	566/1167	189/388	R/L	cGg/cTg	rs770570893	1		1	DGAT2	HGNC	HGNC:16940	protein_coding	YES	CCDS31642.1	ENSP00000228027	Q96PD7		UPI0000048F05	NM_032564.4	deleterious(0.03)		5/8		hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF14,Pfam_domain:PF03982																	MODERATE	1	SNV	1			1										PASS		rs770570893	.												T	3	4	78	75796464	75796464	G	T	1	0	0	0	0	1	0	0	0	4265	1116	39	1		1	DGAT2	11	75796464	Missense_Mutation	SNP	G	C3N-01415_TP	7200277	75796464	59290158	377	25663											
TRIM49	0	.	GRCh38	chr11	89798424	89798424	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatacatattacagacaccAaaagcccaattccaggagtc	16	7	6	12	1	0	1	0	0	0	1	2	3	1	2	3	1	3	0	3	1	6	4	rs752461771,rs760863845		C3N-01415_TP	C3N-01415_NB	A	A																c.1065T>A	p.Phe355Leu	p.F355L	ENST00000329758	8/8	425	290	135	535	534	1	strelka-varscan-mutect	TRIM49,missense_variant,p.Phe355Leu,ENST00000329758,NM_020358.2;TRIM49,missense_variant,p.Phe278Leu,ENST00000532501,;	T	ENST00000329758	Transcript	missense_variant	1394/2163	1065/1359	355/452	F/L	ttT/ttA	rs752461771,rs760863845,COSM4004548	1		-1	TRIM49	HGNC	HGNC:13431	protein_coding	YES	CCDS8287.1	ENSP00000327604	P0CI25		UPI000013431B	NM_020358.2	tolerated(0.78)		8/8		Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,SMART_domains:SM00449,Superfamily_domains:SSF49899											0,0,1						MODERATE	1	SNV	1		0,0,1	1										PASS		rs760863845	.												T	3	4	78	89798424	89798424	A	T	1	0	0	0	0	1	0	0	0	17014	127	5	4		4	TRIM49	11	89798424	Missense_Mutation	SNP	A	C3N-01415_TP	14001960	89798424	45288198	378	25664											
POU2AF1	0	.	GRCh38	chr11	111358907	111358907	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggccggggctggggcttgctCcggagctgtggctgtgaaaa	5	8	19	9	2	0	1	0	1	0	0	1	2	1	2	2	7	2	5	2	7	2	1	rs755989118		C3N-01415_TP	C3N-01415_NB	C	C																c.28G>C	p.Glu10Gln	p.E10Q	ENST00000393067	2/5	117	77	40	166	165	1	strelka-varscan-mutect	POU2AF1,missense_variant,p.Glu10Gln,ENST00000393067,NM_006235.2;POU2AF1,missense_variant,p.Glu12Gln,ENST00000531398,;POU2AF1,non_coding_transcript_exon_variant,,ENST00000525584,;POU2AF1,non_coding_transcript_exon_variant,,ENST00000525662,;POU2AF1,non_coding_transcript_exon_variant,,ENST00000530793,;POU2AF1,downstream_gene_variant,,ENST00000526535,;POU2AF1,downstream_gene_variant,,ENST00000525499,;	G	ENST00000393067	Transcript	missense_variant	543/3295	28/771	10/256	E/Q	Gag/Cag	rs755989118	1		-1	POU2AF1	HGNC	HGNC:9211	protein_coding	YES	CCDS31675.1	ENSP00000376786	Q16633		UPI000011D77C	NM_006235.2	tolerated(0.12)		2/5		hmmpanther:PTHR15363,Pfam_domain:PF09310																	MODERATE	1	SNV	1			1										PASS		rs755989118	.												G	3	3	78	111358907	111358907	C	G	1	0	0	0	0	1	0	0	0	12386	864	30	4		4	POU2AF1	11	111358907	Missense_Mutation	SNP	C	C3N-01415_TP	21560483	111358907	23727715	379	25665											
SIDT2	0	.	GRCh38	chr11	117184121	117184121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaaaccctgtcagtgctgGtgtctcaagcagtcacgtgt	10	10	11	10	1	3	1	3	0	1	1	4	1	3	1	1	1	3	2	1	1	3	0	rs767955020		C3N-01415_TP	C3N-01415_NB	G	G																c.850G>T	p.Val284Leu	p.V284L	ENST00000324225	8/26	197	158	39	199	199	0	strelka-varscan-mutect	SIDT2,missense_variant,p.Val284Leu,ENST00000324225,NM_001040455.1;SIDT2,missense_variant,p.Val284Leu,ENST00000620360,;SIDT2,missense_variant,p.Val284Leu,ENST00000431081,;SIDT2,missense_variant,p.Val284Leu,ENST00000278951,;SIDT2,missense_variant,p.Val284Leu,ENST00000628876,;SIDT2,missense_variant,p.Val134Leu,ENST00000524842,;SIDT2,downstream_gene_variant,,ENST00000531353,;SIDT2,downstream_gene_variant,,ENST00000532960,;SIDT2,non_coding_transcript_exon_variant,,ENST00000530948,;SIDT2,intron_variant,,ENST00000525339,;SIDT2,upstream_gene_variant,,ENST00000526813,;SIDT2,upstream_gene_variant,,ENST00000529441,;SIDT2,downstream_gene_variant,,ENST00000531255,;SIDT2,downstream_gene_variant,,ENST00000528397,;SIDT2,upstream_gene_variant,,ENST00000524988,;SIDT2,upstream_gene_variant,,ENST00000527654,;	T	ENST00000324225	Transcript	missense_variant	1381/4406	850/2499	284/832	V/L	Gtg/Ttg	rs767955020	1		1	SIDT2	HGNC	HGNC:24272	protein_coding	YES	CCDS31682.1	ENSP00000314023	Q8NBJ9		UPI000004BA68	NM_001040455.1	tolerated(0.14)		8/26		hmmpanther:PTHR12185,hmmpanther:PTHR12185:SF16,Pfam_domain:PF13965																	MODERATE	1	SNV	1			1										PASS		rs767955020	.												T	3	4	78	117184121	117184121	G	T	1	0	0	0	0	1	0	0	0	14567	1261	44	2		2	SIDT2	11	117184121	Missense_Mutation	SNP	G	C3N-01415_TP	5825214	117184121	17902501	380	25666											
FOXR1	0	.	GRCh38	chr11	118979479	118979479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgaggaccaggaagacaGctcctctatggctctcccat	9	8	11	13	0	2	2	0	1	2	1	4	4	3	4	3	4	1	3	3	4	2	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.422G>A	p.Ser141Asn	p.S141N	ENST00000317011	4/6	149	95	54	123	123	0	strelka-mutect	FOXR1,missense_variant,p.Ser141Asn,ENST00000317011,NM_181721.2;FOXR1,intron_variant,,ENST00000533282,;FOXR1,intron_variant,,ENST00000531539,;	A	ENST00000317011	Transcript	missense_variant	647/1159	422/879	141/292	S/N	aGc/aAc		1		1	FOXR1	HGNC	HGNC:29980	protein_coding	YES	CCDS31688.1	ENSP00000314806	Q6PIV2		UPI0000192103	NM_181721.2	tolerated(0.47)		4/6		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF152,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	118979479	118979479	G	A	1	0	0	0	0	1	0	0	0	5896	971	34	3		3	FOXR1	11	118979479	Missense_Mutation	SNP	G	C3N-01415_TP	1795358	118979479	16107143	381	25667											
NECTIN1	0	.	GRCh38	chr11	119665053	119665053	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgagtcgtcggggtactgCaggttctgtgccattggtgg	4	13	16	8	2	2	1	0	1	2	0	4	1	2	1	1	5	3	3	1	5	1	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1248G>T	p.=	p.L416L	ENST00000264025	6/6	430	281	149	441	441	0	strelka-varscan-mutect	NECTIN1,synonymous_variant,p.=,ENST00000264025,NM_002855.4;NECTIN1,intron_variant,,ENST00000341398,NM_203285.1;	A	ENST00000264025	Transcript	synonymous_variant	1779/5840	1248/1554	416/517	L	ctG/ctT		1		-1	NECTIN1	HGNC	HGNC:9706	protein_coding	YES	CCDS8426.1	ENSP00000264025	Q15223		UPI000004A2BE	NM_002855.4			6/6		hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF69																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	119665053	119665053	C	A	1	0	0	0	0	0	0	0	1	10333	697	25	2		2	NECTIN1	11	119665053	Silent	SNP	C	C3N-01415_TP	685574	119665053	15421569	382	25668											
NECTIN1	0	.	GRCh38	chr11	119675274	119675274	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaagaagagggttctgttCtgggcctccacacccttggg	7	11	13	10	0	2	3	0	1	2	2	3	3	3	3	3	3	0	2	3	3	2	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.888G>A	p.=	p.Q296Q	ENST00000264025	5/6	449	399	50	438	438	0	strelka-varscan-mutect	NECTIN1,synonymous_variant,p.=,ENST00000264025,NM_002855.4;NECTIN1,synonymous_variant,p.=,ENST00000341398,NM_203285.1;NECTIN1,synonymous_variant,p.=,ENST00000340882,NM_203286.1;NECTIN1,downstream_gene_variant,,ENST00000524510,;NECTIN1,non_coding_transcript_exon_variant,,ENST00000524429,;NECTIN1,downstream_gene_variant,,ENST00000532197,;	T	ENST00000264025	Transcript	synonymous_variant	1419/5840	888/1554	296/517	Q	caG/caA		1		-1	NECTIN1	HGNC	HGNC:9706	protein_coding	YES	CCDS8426.1	ENSP00000264025	Q15223		UPI000004A2BE	NM_002855.4			5/6		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF69,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	119675274	119675274	C	T	1	0	0	0	0	0	0	0	1	10333	912	32	3		3	NECTIN1	11	119675274	Silent	SNP	C	C3N-01415_TP	10221	119675274	15411348	383	25669											
HEPACAM	0	.	GRCh38	chr11	124921280	124921280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgagtgtgtccggccggtgGctggggagcgcgctggggag	4	6	22	9	5	0	0	0	0	0	0	1	3	1	2	2	7	1	2	2	7	0	0	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1109C>A	p.Ala370Asp	p.A370D	ENST00000298251	7/7	42	37	5	51	51	0	strelka-varscan-mutect	HEPACAM,missense_variant,p.Ala370Asp,ENST00000298251,NM_152722.4;HEPN1,downstream_gene_variant,,ENST00000408930,NM_001037558.2;HEPACAM,downstream_gene_variant,,ENST00000528971,;HEPACAM,downstream_gene_variant,,ENST00000526273,;	T	ENST00000298251	Transcript	missense_variant	1515/3602	1109/1251	370/416	A/D	gCc/gAc		1		-1	HEPACAM	HGNC	HGNC:26361	protein_coding	YES	CCDS8456.1	ENSP00000298251	Q14CZ8		UPI000013E4B5	NM_152722.4	tolerated_low_confidence(0.21)		7/7		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	124921280	124921280	G	T	1	0	0	0	0	1	0	0	0	6936	1203	42	2		2	HEPACAM	11	124921280	Missense_Mutation	SNP	G	C3N-01415_TP	5246006	124921280	10165342	384	25670											
KDM5A	0	.	GRCh38	chr12	388950	388959	+	Frame_Shift_Del	DEL	TGCCGGTTTT	TGCCGGTTTT	-																															gggcggccgaattttgcagaTgccggttttctccgccaaag																								novel		C3N-01415_TP	C3N-01415_NB	TGCCGGTTTT	TGCCGGTTTT																c.133_142delAAAACCGGCA	p.Lys45SerfsTer18	p.K45Sfs*18	ENST00000399788	1/28	380	356	24	412	411	1	varindel-pindel	KDM5A,frameshift_variant,p.Lys45SerfsTer18,ENST00000399788,NM_001042603.2;KDM5A,frameshift_variant,p.Lys45SerfsTer17,ENST00000544760,;KDM5A,frameshift_variant,p.Lys45SerfsTer27,ENST00000543507,;KDM5A,frameshift_variant,p.Lys45SerfsTer18,ENST00000535014,;CCDC77,upstream_gene_variant,,ENST00000422000,NM_001130147.1;CCDC77,upstream_gene_variant,,ENST00000540180,NM_001130148.1;CCDC77,upstream_gene_variant,,ENST00000543504,;KDM5A,upstream_gene_variant,,ENST00000536014,;CCDC77,upstream_gene_variant,,ENST00000535052,;CCDC77,upstream_gene_variant,,ENST00000540344,;CCDC77,upstream_gene_variant,,ENST00000537453,;	-	ENST00000399788	Transcript	frameshift_variant	496-505/10763	133-142/5073	45-48/1690	KTGI/X	AAAACCGGCAtc/tc		1		-1	KDM5A	HGNC	HGNC:9886	protein_coding	YES	CCDS41736.1	ENSP00000382688	P29375		UPI0000DB2E73	NM_001042603.2			1/28		PROSITE_profiles:PS51183,hmmpanther:PTHR10694:SF17,hmmpanther:PTHR10694,Pfam_domain:PF02375,SMART_domains:SM00545																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	78	388950	388950	TGCCGGTTTT	-	1	0	1	0	1	0	0	0	0	8051	1464	51	0		0	KDM5A	12	388950	Frame_Shift_Del	DEL	TGCCGGTTTT	C3N-01415_TP		388950	132886359	385	25671											
CACNA2D4	0	.	GRCh38	chr12	1858599	1858599	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccacagacgtgttcccCagaaggatgtattctccgtg	8	12	9	12	2	2	2	0	0	2	2	5	3	4	3	4	1	0	2	4	1	2	4	rs764496676		C3N-01415_TP	C3N-01415_NB	C	C																c.1986G>C	p.=	p.L662L	ENST00000382722	20/38	173	139	34	152	152	0	strelka-varscan-mutect	CACNA2D4,synonymous_variant,p.=,ENST00000382722,NM_172364.4;CACNA2D4,synonymous_variant,p.=,ENST00000587995,;CACNA2D4,synonymous_variant,p.=,ENST00000586184,;CACNA2D4,synonymous_variant,p.=,ENST00000588077,;CACNA2D4,synonymous_variant,p.=,ENST00000585708,;CACNA2D4,synonymous_variant,p.=,ENST00000585732,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000539048,;CACNA2D4,3_prime_UTR_variant,,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;CACNA2D4,upstream_gene_variant,,ENST00000537784,;	G	ENST00000382722	Transcript	synonymous_variant	2349/5475	1986/3414	662/1137	L	ctG/ctC	rs764496676	1		-1	CACNA2D4	HGNC	HGNC:20202	protein_coding	YES	CCDS44785.1	ENSP00000372169	Q7Z3S7		UPI0000E593D9	NM_172364.4			20/38		hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF26																	LOW	1	SNV	1			1										PASS		rs764496676	.												G	2	3	78	1858599	1858599	C	G	1	0	0	0	0	0	0	0	1	2239	581	21	4		4	CACNA2D4	12	1858599	Silent	SNP	C	C3N-01415_TP	1469649	1858599	131416710	386	25672											
CD163L1	0	.	GRCh38	chr12	7369369	7369369	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttaccagagcacctcaCgccagcatcttccttgtgtc	9	10	6	16	1	2	1	1	0	1	1	4	1	3	1	4	0	3	2	4	0	1	3	rs367598769		C3N-01415_TP	C3N-01415_NB	C	C																c.4057G>C	p.Val1353Leu	p.V1353L	ENST00000416109	15/20	142	118	24	192	192	0	strelka-varscan-mutect	CD163L1,missense_variant,p.Val1343Leu,ENST00000313599,NM_174941.5;CD163L1,missense_variant,p.Val1353Leu,ENST00000416109,NM_001297650.1;CD163L1,upstream_gene_variant,,ENST00000539726,;CD163L1,non_coding_transcript_exon_variant,,ENST00000545597,;CD163L1,upstream_gene_variant,,ENST00000543841,;CD163L1,upstream_gene_variant,,ENST00000546182,;	G	ENST00000416109	Transcript	missense_variant	4076/4603	4057/4392	1353/1463	V/L	Gtg/Ctg	rs367598769	1		-1	CD163L1	HGNC	HGNC:30375	protein_coding	YES	CCDS73434.1	ENSP00000393474	Q9NR16		UPI0001AE6A76	NM_001297650.1	deleterious(0)		15/20		PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF260,hmmpanther:PTHR19331,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487																	MODERATE	1	SNV	2			1										PASS		rs367598769	.												G	3	3	78	7369369	7369369	C	G	1	0	0	0	0	1	0	0	0	2671	536	19	4		4	CD163L1	12	7369369	Missense_Mutation	SNP	C	C3N-01415_TP	5510770	7369369	125905940	387	25673											
SLCO1B1	0	.	GRCh38	chr12	21224720	21224720	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctcttctcctattacAggaggaattctagctccaat	10	15	5	11	0	4	0	0	0	4	0	7	2	5	2	2	2	2	1	2	2	5	6	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.1748-2A>T		p.X583_splice	ENST00000256958		293	246	47	317	317	0	strelka-varscan-mutect	SLCO1B1,splice_acceptor_variant,,ENST00000256958,NM_006446.4;	T	ENST00000256958	Transcript	splice_acceptor_variant	-/2229	1748/2076	583/691				1		1	SLCO1B1	HGNC	HGNC:10959	protein_coding	YES	CCDS8685.1	ENSP00000256958	Q9Y6L6	A0A024RAU7	UPI0000043BED	NM_006446.4				13/14																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	78	21224720	21224720	A	T	1	0	0	0	0	0	0	1	0	15009	202	7	4		4	SLCO1B1	12	21224720	Splice_Site	SNP	A	C3N-01415_TP	13855351	21224720	112050589	388	25674											
GOLT1B	0	.	GRCh38	chr12	21508383	21508383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtattttctttctcttttagGttttatttgtagccggcttg	4	23	8	6	1	2	0	0	0	2	0	3	0	2	0	1	2	1	4	1	2	4	11	rs200318646		C3N-01415_TP	C3N-01415_NB	G	G																c.118G>C	p.Val40Leu	p.V40L	ENST00000229314	3/5	120	106	14	168	168	0	strelka-varscan-mutect	GOLT1B,missense_variant,p.Val40Leu,ENST00000229314,NM_016072.4;GOLT1B,missense_variant,p.Val40Leu,ENST00000540141,;GOLT1B,splice_region_variant,,ENST00000542038,;GOLT1B,downstream_gene_variant,,ENST00000631252,;GOLT1B,intron_variant,,ENST00000535593,;GOLT1B,intron_variant,,ENST00000545093,;GOLT1B,splice_region_variant,,ENST00000539025,;GOLT1B,splice_region_variant,,ENST00000539663,;GOLT1B,splice_region_variant,,ENST00000542194,;GOLT1B,downstream_gene_variant,,ENST00000545113,;	C	ENST00000229314	Transcript	missense_variant,splice_region_variant	227/3227	118/417	40/138	V/L	Gtt/Ctt	rs200318646	1		1	GOLT1B	HGNC	HGNC:20175	protein_coding	YES	CCDS8689.1	ENSP00000229314	Q9Y3E0		UPI0000048ED8	NM_016072.4	tolerated(0.59)		3/5		Transmembrane_helices:TMhelix,hmmpanther:PTHR21493,Pfam_domain:PF04178																	MODERATE	1	SNV	1			1										PASS		rs200318646	.												C	3	2	78	21508383	21508383	G	C	1	0	0	0	0	1	0	0	0	6465	1275	44	4		4	GOLT1B	12	21508383	Missense_Mutation	SNP	G	C3N-01415_TP	283663	21508383	111766926	389	25675											
GYS2	0	.	GRCh38	chr12	21580478	21580478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttctctccccattcatctGctgttgttttggcctttgtc	3	19	7	12	0	3	0	1	0	2	0	6	0	4	0	3	1	1	4	3	1	0	6	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.167C>A	p.Ala56Glu	p.A56E	ENST00000261195	2/16	512	449	63	652	651	1	strelka-varscan-mutect	GYS2,missense_variant,p.Ala56Glu,ENST00000261195,NM_021957.3;	T	ENST00000261195	Transcript	missense_variant	422/3132	167/2112	56/703	A/E	gCa/gAa		1		-1	GYS2	HGNC	HGNC:4707	protein_coding	YES	CCDS8690.1	ENSP00000261195	P54840		UPI000013D13D	NM_021957.3	deleterious(0.04)		2/16		hmmpanther:PTHR10176:SF1,hmmpanther:PTHR10176,Pfam_domain:PF05693																	MODERATE	1	SNV	1			1										PASS		rs778914111	.												T	3	4	78	21580478	21580478	G	T	1	0	0	0	0	1	0	0	0	6795	1319	46	2		2	GYS2	12	21580478	Missense_Mutation	SNP	G	C3N-01415_TP	72095	21580478	111694831	390	25676											
SMCO2	0	.	GRCh38	chr12	27495760	27495760	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggacactgactctcacagTtctgaggaaatagatacgga	14	8	11	8	1	2	3	1	2	2	1	3	7	2	6	0	3	1	1	0	3	3	3	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.738T>A	p.Ser246Arg	p.S246R	ENST00000416383	8/9	94	87	7	112	111	1	strelka-varscan-mutect	SMCO2,missense_variant,p.Ser246Arg,ENST00000416383,NM_001145010.1;SMCO2,missense_variant,p.Ser196Arg,ENST00000298876,;SMCO2,missense_variant,p.Ser246Arg,ENST00000535986,;SMCO2,non_coding_transcript_exon_variant,,ENST00000538647,;SMCO2,non_coding_transcript_exon_variant,,ENST00000541168,;RARSP1,upstream_gene_variant,,ENST00000542842,;	A	ENST00000416383	Transcript	missense_variant	914/1272	738/1032	246/343	S/R	agT/agA		1		1	SMCO2	HGNC	HGNC:34448	protein_coding	YES	CCDS44852.1	ENSP00000387617	A6NFE2		UPI000166275D	NM_001145010.1	deleterious(0.03)		8/9		hmmpanther:PTHR22422:SF5,hmmpanther:PTHR22422,Pfam_domain:PF14992																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	78	27495760	27495760	T	A	1	0	0	0	0	1	0	0	0	15083	1722	60	4		4	SMCO2	12	27495760	Missense_Mutation	SNP	T	C3N-01415_TP	5915282	27495760	105779549	391	25677											
TMTC1	0	.	GRCh38	chr12	29514584	29514584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtttcagctggagagcCttgtctatagcatcaagtgc	8	14	11	8	0	3	1	2	0	1	1	3	2	3	1	1	2	4	3	1	2	3	5	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.2328G>T	p.Lys776Asn	p.K776N	ENST00000539277	16/18	153	113	40	188	188	0	strelka-varscan-mutect	TMTC1,missense_variant,p.Lys668Asn,ENST00000256062,NM_175861.3;TMTC1,missense_variant,p.Lys838Asn,ENST00000551659,;TMTC1,missense_variant,p.Lys800Asn,ENST00000552618,;TMTC1,missense_variant,p.Lys776Asn,ENST00000539277,NM_001193451.1;TMTC1,non_coding_transcript_exon_variant,,ENST00000319685,;TMTC1,non_coding_transcript_exon_variant,,ENST00000552925,;	A	ENST00000539277	Transcript	missense_variant	2387/2758	2328/2649	776/882	K/N	aaG/aaT		1		-1	TMTC1	HGNC	HGNC:24099	protein_coding	YES	CCDS53772.1	ENSP00000442046	Q8IUR5		UPI0001DD37FA	NM_001193451.1	deleterious(0.02)		16/18		Gene3D:1.25.40.10,Pfam_domain:PF13181,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF401,SMART_domains:SM00028,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	29514584	29514584	C	A	1	0	0	0	0	1	0	0	0	16734	680	24	2		2	TMTC1	12	29514584	Missense_Mutation	SNP	C	C3N-01415_TP	2018824	29514584	103760725	392	25678											
ANO6	0	.	GRCh38	chr12	45348072	45348072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtaaaagtacacgcaccatgGgaggtgttatgtacgtatgc	12	10	12	7	2	0	0	0	0	0	0	0	1	0	1	1	2	3	6	1	2	6	5	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.453G>T	p.Trp151Cys	p.W151C	ENST00000423947	6/21	293	237	56	310	310	0	strelka-varscan-mutect	ANO6,missense_variant,p.Trp130Cys,ENST00000320560,NM_001025356.2;ANO6,missense_variant,p.Trp112Cys,ENST00000441606,NM_001142678.1;ANO6,missense_variant,p.Trp151Cys,ENST00000423947,NM_001204803.1;ANO6,missense_variant,p.Trp130Cys,ENST00000425752,NM_001142679.1;ANO6,non_coding_transcript_exon_variant,,ENST00000426898,;ANO6,downstream_gene_variant,,ENST00000551667,;	T	ENST00000423947	Transcript	missense_variant	690/5504	453/2796	151/931	W/C	tgG/tgT		1		1	ANO6	HGNC	HGNC:25240	protein_coding	YES	CCDS55819.1	ENSP00000409126	Q4KMQ2		UPI000022935A	NM_001204803.1	deleterious(0.01)		6/21		hmmpanther:PTHR12308:SF21,hmmpanther:PTHR12308,Pfam_domain:PF16178																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	45348072	45348072	G	T	1	0	0	0	0	1	0	0	0	808	1241	43	2		2	ANO6	12	45348072	Missense_Mutation	SNP	G	C3N-01415_TP	15833488	45348072	87927237	393	25679											
KMT2D	0	.	GRCh38	chr12	49040821	49040821	+	Missense_Mutation	SNP	C	C	A																															tgtctttaactccaggccacCcaggtgggtgcctgaggagg																								novel		C3N-01415_TP	C3N-01415_NB	C	C																c.6949G>T	p.Gly2317Cys	p.G2317C	ENST00000301067	31/54	221	189	32	252	252	0	strelka-varscan-mutect	KMT2D,missense_variant,p.Gly2317Cys,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,;	A	ENST00000301067	Transcript	missense_variant	6949/19419	6949/16614	2317/5537	G/C	Ggt/Tgt		1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3	deleterious(0)		31/54																			MODERATE	1	SNV	5			1										PASS		rs1234512305	.												A	3	1	78	49040821	49040821	C	A	1	0	0	0	0	1	0	0	0	8298	623	22	2		2	KMT2D	12	49040821	Missense_Mutation	SNP	C	C3N-01415_TP	3692749	49040821	84234488	394	25680	547	2									
KMT2D	0	.	GRCh38	chr12	49040822	49040822	+	Silent	SNP	C	C	A																															gtctttaactccaggccaccCaggtgggtgcctgaggaggg																								rs373149520		C3N-01415_TP	C3N-01415_NB	C	C																c.6948G>T	p.=	p.L2316L	ENST00000301067	31/54	222	188	34	255	255	0	strelka-varscan-mutect	KMT2D,synonymous_variant,p.=,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,;	A	ENST00000301067	Transcript	synonymous_variant	6948/19419	6948/16614	2316/5537	L	ctG/ctT	rs373149520	1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3			31/54																			LOW	1	SNV	5			1										PASS		rs373149520	.												A	2	1	78	49040822	49040822	C	A	1	0	0	0	0	0	0	0	1	8298	581	21	2		2	KMT2D	12	49040822	Silent	SNP	C	C3N-01415_TP	1	49040822	84234487	395	25681	547	2									
KMT2D	0	.	GRCh38	chr12	49052005	49052005	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcggggaagtgggcaattCctcaggtggcggggacaaag	9	6	19	7	2	1	0	1	0	0	0	2	2	2	2	1	8	0	1	1	8	3	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1678G>T	p.Glu560Ter	p.E560*	ENST00000301067	10/54	281	261	20	273	273	0	strelka-varscan-mutect	KMT2D,stop_gained,p.Glu560Ter,ENST00000301067,NM_003482.3;KMT2D,downstream_gene_variant,,ENST00000547610,;	A	ENST00000301067	Transcript	stop_gained	1678/19419	1678/16614	560/5537	E/*	Gaa/Taa		1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3			10/54		Low_complexity_(Seg):seg																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	78	49052005	49052005	C	A	1	0	0	0	0	0	1	0	0	8298	864	30	2		2	KMT2D	12	49052005	Nonsense_Mutation	SNP	C	C3N-01415_TP	11183	49052005	84223304	396	25682											
ACVRL1	0	.	GRCh38	chr12	51913581	51913581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaacctccttcggagcaGccgggaacagatggccagct	10	5	11	15	2	0	1	0	0	0	1	2	3	1	3	5	3	5	2	5	3	2	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.336G>T	p.Gln112His	p.Q112H	ENST00000388922	4/10	448	359	89	366	366	0	strelka-varscan-mutect	ACVRL1,missense_variant,p.Gln126His,ENST00000550683,;ACVRL1,missense_variant,p.Gln112His,ENST00000388922,NM_000020.2,NM_001077401.1;ACVRL1,intron_variant,,ENST00000419526,;ACVRL1,intron_variant,,ENST00000547400,;ACVRL1,upstream_gene_variant,,ENST00000552678,;ACVRL1,downstream_gene_variant,,ENST00000551576,;ACVRL1,upstream_gene_variant,,ENST00000547632,;	T	ENST00000388922	Transcript	missense_variant	619/1971	336/1512	112/503	Q/H	caG/caT		1		1	ACVRL1	HGNC	HGNC:175	protein_coding	YES	CCDS31804.1	ENSP00000373574	P37023	A0A0S2Z310	UPI000000D9F4	NM_000020.2,NM_001077401.1	tolerated(0.18)		4/10		hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF66																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	51913581	51913581	G	T	1	0	0	0	0	1	0	0	0	269	962	34	2		2	ACVRL1	12	51913581	Missense_Mutation	SNP	G	C3N-01415_TP	2861576	51913581	81361728	397	25683											
AAAS	0	.	GRCh38	chr12	53308973	53308973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttacctgacagcgccctGatagagtaggccacctctca	9	9	8	15	1	2	3	1	2	2	1	3	3	2	3	4	1	2	1	4	1	3	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.983C>T	p.Ser328Leu	p.S328L	ENST00000209873	10/16	816	754	62	744	743	1	strelka-varscan-mutect	AAAS,missense_variant,p.Ser328Leu,ENST00000209873,NM_015665.5;AAAS,missense_variant,p.Ser295Leu,ENST00000394384,NM_001173466.1;AAAS,missense_variant,p.Ser204Leu,ENST00000550286,;AAAS,missense_variant,p.Ser168Leu,ENST00000548931,;C12orf10,downstream_gene_variant,,ENST00000267103,NM_021640.3;C12orf10,downstream_gene_variant,,ENST00000548632,;AAAS,downstream_gene_variant,,ENST00000547757,;C12orf10,downstream_gene_variant,,ENST00000549488,;C12orf10,downstream_gene_variant,,ENST00000547864,;AAAS,downstream_gene_variant,,ENST00000549983,;AAAS,downstream_gene_variant,,ENST00000547761,;AAAS,non_coding_transcript_exon_variant,,ENST00000552876,;AAAS,non_coding_transcript_exon_variant,,ENST00000550033,;AAAS,non_coding_transcript_exon_variant,,ENST00000547520,;AAAS,non_coding_transcript_exon_variant,,ENST00000546572,;C12orf10,downstream_gene_variant,,ENST00000548845,;AAAS,downstream_gene_variant,,ENST00000547238,;AAAS,downstream_gene_variant,,ENST00000546393,;C12orf10,downstream_gene_variant,,ENST00000550199,;C12orf10,downstream_gene_variant,,ENST00000549177,;C12orf10,downstream_gene_variant,,ENST00000547490,;	A	ENST00000209873	Transcript	missense_variant	1149/1840	983/1641	328/546	S/L	tCa/tTa		1		-1	AAAS	HGNC	HGNC:13666	protein_coding	YES	CCDS8856.1	ENSP00000209873	Q9NRG9		UPI0000039E40	NM_015665.5	tolerated(0.11)		10/16		hmmpanther:PTHR14494,hmmpanther:PTHR14494:SF0,Gene3D:2.130.10.10,Superfamily_domains:SSF82171																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	53308973	53308973	G	A	1	0	0	0	0	1	0	0	0	8	1294	45	3		3	AAAS	12	53308973	Missense_Mutation	SNP	G	C3N-01415_TP	1395392	53308973	79966336	398	25684											
OR6C3	0	.	GRCh38	chr12	55332046	55332046	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacattttaactgccatgTcctatgaccgctatgttgcc	8	16	6	11	1	0	1	0	1	0	0	1	1	1	1	4	0	4	2	4	0	4	7	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.346T>C	p.Ser116Pro	p.S116P	ENST00000379667	1/1	277	256	21	339	339	0	strelka-varscan-mutect	OR6C3,missense_variant,p.Ser116Pro,ENST00000379667,NM_054104.1;	C	ENST00000379667	Transcript	missense_variant	346/936	346/936	116/311	S/P	Tcc/Ccc		1		1	OR6C3	HGNC	HGNC:15437	protein_coding	YES	CCDS31819.1	ENSP00000368989	Q9NZP0	A0A126GW44	UPI000016150E	NM_054104.1	deleterious_low_confidence(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454:SF39,hmmpanther:PTHR26454,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	78	55332046	55332046	T	C	1	0	0	0	0	1	0	0	0	11260	1667	58	5		5	OR6C3	12	55332046	Missense_Mutation	SNP	T	C3N-01415_TP	2023073	55332046	77943263	399	25685											
PTPRQ	0	.	GRCh38	chr12	80496049	80496050	+	Frame_Shift_Ins	INS	-	-	A																															agtggcagcctcaacccacgINSttggagaaagttctttgtct																								novel		C3N-01415_TP	C3N-01415_NB	-	-																c.1933_1934insA	p.Val645AspfsTer8	p.V645Dfs*8	ENST00000614701	13/45	231	215	16	247	247	0	varindel-pindel	PTPRQ,frameshift_variant,p.Val645AspfsTer8,ENST00000614701,NM_001145026.1;PTPRQ,frameshift_variant,p.Val687AspfsTer8,ENST00000616559,;	A	ENST00000614701	Transcript	frameshift_variant	2111-2112/8289	1933-1934/6900	645/2299	V/DX	gtt/gAtt		1		1	PTPRQ	HGNC	HGNC:9679	protein_coding	YES	CCDS73501.1	ENSP00000482885		A0A087WZU1	UPI000192953C	NM_001145026.1			13/45		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF414,SMART_domains:SM00060,Superfamily_domains:SSF49265																	HIGH	1	insertion	5			1										PASS		.	.												A	7	5	78	80496049	80496049	-	A	1	0	1	1	0	0	0	0	0	12964	1145	40	0		0	PTPRQ	12	80496049	Frame_Shift_Ins	INS	-	C3N-01415_TP	25164003	80496049	52779260	400	25686											
PPFIA2	0	.	GRCh38	chr12	81353136	81353136	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgatttctttgttgatGgcatccaattgttcctgaag	8	17	8	8	0	1	3	0	3	1	0	3	3	3	3	3	1	1	3	3	1	3	6	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1977C>A	p.=	p.A659A	ENST00000549396	17/33	274	225	49	316	316	0	strelka-varscan-mutect	PPFIA2,synonymous_variant,p.=,ENST00000333447,NM_001220478.2;PPFIA2,synonymous_variant,p.=,ENST00000550584,NM_001220473.2;PPFIA2,synonymous_variant,p.=,ENST00000549396,NM_003625.4;PPFIA2,synonymous_variant,p.=,ENST00000549325,NM_001220474.2;PPFIA2,synonymous_variant,p.=,ENST00000548586,NM_001220476.2;PPFIA2,synonymous_variant,p.=,ENST00000552948,NM_001220475.2;PPFIA2,synonymous_variant,p.=,ENST00000407050,NM_001220477.2;PPFIA2,synonymous_variant,p.=,ENST00000550359,NM_001282536.1;PPFIA2,synonymous_variant,p.=,ENST00000443686,;PPFIA2,synonymous_variant,p.=,ENST00000541570,NM_001220479.2;PPFIA2,synonymous_variant,p.=,ENST00000553058,;PPFIA2,5_prime_UTR_variant,,ENST00000541017,NM_001220480.2;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,upstream_gene_variant,,ENST00000549917,;PPFIA2,3_prime_UTR_variant,,ENST00000551461,;	T	ENST00000549396	Transcript	synonymous_variant	2138/5363	1977/3774	659/1257	A	gcC/gcA		1		-1	PPFIA2	HGNC	HGNC:9246	protein_coding	YES	CCDS55857.1	ENSP00000450337	O75334		UPI0000168655	NM_003625.4			17/33		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587																	LOW	1	SNV	1			1										PASS		rs1172602266	.												T	2	4	78	81353136	81353136	G	T	1	0	0	0	0	0	0	0	1	12419	1335	47	2		2	PPFIA2	12	81353136	Silent	SNP	G	C3N-01415_TP	857087	81353136	51922173	401	25687											
POC1B	0	.	GRCh38	chr12	89497270	89497270	+	Frame_Shift_Del	DEL	C	C	-																															tggttacaacatccttgtgaCccacatatctgtaagctcta																								novel		C3N-01415_TP	C3N-01415_NB	C	C																c.173delG	p.Gly58ValfsTer6	p.G58Vfs*6	ENST00000313546	3/12	228	189	39	293	293	0	sindel-varindel-pindel	POC1B,frameshift_variant,p.Gly58ValfsTer6,ENST00000313546,NM_172240.2;POC1B,frameshift_variant,p.Gly16ValfsTer6,ENST00000549035,NM_001199777.1;POC1B,intron_variant,,ENST00000393179,;POC1B,intron_variant,,ENST00000549504,;POC1B,frameshift_variant,p.Gly58ValfsTer6,ENST00000546830,;POC1B,non_coding_transcript_exon_variant,,ENST00000539190,;POC1B,intron_variant,,ENST00000547496,;POC1B,intron_variant,,ENST00000548715,;POC1B,intron_variant,,ENST00000552563,;POC1B,intron_variant,,ENST00000547274,;CENPCP1,upstream_gene_variant,,ENST00000533085,;	-	ENST00000313546	Transcript	frameshift_variant	302/3001	173/1437	58/478	G/X	gGt/gt		1		-1	POC1B	HGNC	HGNC:30836	protein_coding	YES	CCDS31869.1	ENSP00000323302	Q8TC44	A0MNP0	UPI000006E6B9	NM_172240.2			3/12		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	78	89497270	89497270	C	-	1	0	1	0	1	0	0	0	0	12285	507	18	0		0	POC1B	12	89497270	Frame_Shift_Del	DEL	C	C3N-01415_TP	8144134	89497270	43778039	402	25688											
EPYC	0	.	GRCh38	chr12	90971940	90971940	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagttgaggcagttttcGgaatgcatcttcatcaatct	10	14	9	8	2	4	1	2	1	2	0	6	3	4	2	0	2	1	4	0	2	3	4	rs143768297		C3N-01415_TP	C3N-01415_NB	G	G																c.562C>A	p.=	p.R188R	ENST00000261172	5/7	295	226	69	313	312	1	strelka-varscan-mutect	EPYC,synonymous_variant,p.=,ENST00000261172,NM_004950.4;EPYC,synonymous_variant,p.=,ENST00000551767,;EPYC,downstream_gene_variant,,ENST00000550203,;	T	ENST00000261172	Transcript	synonymous_variant	655/1539	562/969	188/322	R	Cga/Aga	rs143768297	1		-1	EPYC	HGNC	HGNC:3053	protein_coding	YES	CCDS31870.1	ENSP00000261172	Q99645	A0A024RBC3	UPI000013D136	NM_004950.4			5/7		PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF123,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		rs143768297	.												T	2	4	78	90971940	90971940	G	T	1	0	0	0	0	0	0	0	1	5049	1124	39	1		1	EPYC	12	90971940	Silent	SNP	G	C3N-01415_TP	1474670	90971940	42303369	403	25689											
CFAP54	0	.	GRCh38	chr12	96743439	96743439	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcctgagcctcatcaatgaAgtgtgtatggaggcaaaaag	13	9	12	7	0	2	2	2	2	0	0	2	3	2	3	2	2	2	2	2	2	5	1	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.7257A>T	p.Glu2419Asp	p.E2419D	ENST00000524981	53/68	344	264	80	355	354	1	strelka-varscan-mutect	CFAP54,missense_variant,p.Glu2419Asp,ENST00000524981,NM_001306084.1;CFAP54,missense_variant,p.Glu1390Asp,ENST00000637336,;CFAP54,non_coding_transcript_exon_variant,,ENST00000342887,;	T	ENST00000524981	Transcript	missense_variant	7280/9766	7257/9291	2419/3096	E/D	gaA/gaT		1		1	CFAP54	HGNC	HGNC:26456	protein_coding	YES	CCDS76588.1	ENSP00000431759	Q96N23		UPI0001F77A4D	NM_001306084.1	deleterious(0.03)		53/68		hmmpanther:PTHR33487,hmmpanther:PTHR33487:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	78	96743439	96743439	A	T	1	0	0	0	0	1	0	0	0	3025	69	3	4		4	CFAP54	12	96743439	Missense_Mutation	SNP	A	C3N-01415_TP	5771499	96743439	36531870	404	25690											
TMPO	0	.	GRCh38	chr12	98527964	98527964	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagctcactaatgaagatCttttggatcagcttgtgaaa	13	12	9	7	0	3	4	2	2	1	2	3	5	3	5	0	1	2	2	0	1	3	4	rs200420073		C3N-01415_TP	C3N-01415_NB	C	C																c.358C>G	p.Leu120Val	p.L120V	ENST00000266732	2/4	523	464	59	495	495	0	strelka-varscan-mutect	TMPO,missense_variant,p.Leu120Val,ENST00000556029,NM_001032283.2;TMPO,missense_variant,p.Leu120Val,ENST00000266732,NM_003276.2;TMPO,missense_variant,p.Leu120Val,ENST00000343315,NM_001307975.1;TMPO,missense_variant,p.Leu120Val,ENST00000393053,NM_001032284.2;TMPO,missense_variant,p.Leu120Val,ENST00000261210,;TMPO,missense_variant,p.Leu27Val,ENST00000556678,;TMPO,non_coding_transcript_exon_variant,,ENST00000547214,;TMPO,non_coding_transcript_exon_variant,,ENST00000549938,;TMPO,non_coding_transcript_exon_variant,,ENST00000546828,;TMPO,non_coding_transcript_exon_variant,,ENST00000548911,;TMPO,non_coding_transcript_exon_variant,,ENST00000552831,;	G	ENST00000266732	Transcript	missense_variant	596/3615	358/2085	120/694	L/V	Ctt/Gtt	rs200420073	1		1	TMPO	HGNC	HGNC:11875	protein_coding	YES	CCDS9064.1	ENSP00000266732	P42166		UPI000013D709	NM_003276.2	deleterious_low_confidence(0)		2/4		PROSITE_profiles:PS50954,hmmpanther:PTHR12019:SF10,hmmpanther:PTHR12019,Gene3D:1.10.720.40,Pfam_domain:PF03020,SMART_domains:SM00540,Superfamily_domains:SSF63451										uncertain_significance							MODERATE	1	SNV	1		1	1										PASS		rs200420073	.												G	3	3	78	98527964	98527964	C	G	1	0	0	0	0	1	0	0	0	16713	913	32	4		4	TMPO	12	98527964	Missense_Mutation	SNP	C	C3N-01415_TP	1784525	98527964	34747345	405	25691											
CKAP4	0	.	GRCh38	chr12	106247556	106247556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccgagcctgcgcgagcagGacgccgaggacgaggcggcg	7	2	19	13	8	0	0	0	0	0	0	0	6	0	2	3	4	4	1	3	4	0	0	rs575354598		C3N-01415_TP	C3N-01415_NB	G	G																c.296C>A	p.Ser99Tyr	p.S99Y	ENST00000378026	1/2	160	135	25	174	174	0	strelka-varscan-mutect	CKAP4,missense_variant,p.Ser99Tyr,ENST00000378026,NM_006825.3;CKAP4,intron_variant,,ENST00000553039,;RP11-651L5.3,upstream_gene_variant,,ENST00000611145,;RP11-651L5.2,upstream_gene_variant,,ENST00000552486,;CKAP4,intron_variant,,ENST00000552828,;	T	ENST00000378026	Transcript	missense_variant	433/3093	296/1809	99/602	S/Y	tCc/tAc	rs575354598	1		-1	CKAP4	HGNC	HGNC:16991	protein_coding	YES	CCDS9103.1	ENSP00000367265	Q07065	A0A024RBH2	UPI00000723B9	NM_006825.3	deleterious(0)		1/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs575354598	.												T	3	4	78	106247556	106247556	G	T	1	0	0	0	0	1	0	0	0	3207	1174	41	2		2	CKAP4	12	106247556	Missense_Mutation	SNP	G	C3N-01415_TP	7719592	106247556	27027753	406	25692											
NAA25	0	.	GRCh38	chr12	112054505	112054505	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcaatttgaactgagcattgGaagggctatgggttaatccc	11	11	12	7	0	0	2	0	2	0	0	1	3	1	3	1	3	2	4	1	3	5	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1511C>G	p.Ser504Cys	p.S504C	ENST00000261745	14/24	348	277	71	320	320	0	strelka-varscan-mutect	NAA25,missense_variant,p.Ser504Cys,ENST00000261745,NM_024953.3;NAA25,3_prime_UTR_variant,,ENST00000549711,;NAA25,3_prime_UTR_variant,,ENST00000551858,;NAA25,non_coding_transcript_exon_variant,,ENST00000552527,;	C	ENST00000261745	Transcript	missense_variant	1760/6010	1511/2919	504/972	S/C	tCc/tGc		1		-1	NAA25	HGNC	HGNC:25783	protein_coding	YES	CCDS9159.1	ENSP00000261745	Q14CX7		UPI00001FBB50	NM_024953.3	deleterious(0)		14/24		Gene3D:1.25.40.10,Pfam_domain:PF09797,hmmpanther:PTHR22767,hmmpanther:PTHR22767:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	112054505	112054505	G	C	1	0	0	0	0	1	0	0	0	10124	1174	41	4		4	NAA25	12	112054505	Missense_Mutation	SNP	G	C3N-01415_TP	5806949	112054505	21220804	407	25693											
RPH3A	0	.	GRCh38	chr12	112865515	112865515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctggggatgctgggctctgCctgtgtagtatgtgaggact	5	12	17	7	0	1	1	0	1	1	0	1	3	1	3	1	4	2	5	1	4	2	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.332C>T	p.Ala111Val	p.A111V	ENST00000389385	6/22	275	220	55	262	260	2	strelka-varscan-mutect	RPH3A,missense_variant,p.Ala111Val,ENST00000389385,NM_001143854.1;RPH3A,missense_variant,p.Ala111Val,ENST00000415485,;RPH3A,missense_variant,p.Ala107Val,ENST00000551052,NM_014954.3;RPH3A,missense_variant,p.Ala111Val,ENST00000543106,;RPH3A,missense_variant,p.Ala62Val,ENST00000548866,;RPH3A,missense_variant,p.Ala111Val,ENST00000551593,;RPH3A,missense_variant,p.Ala111Val,ENST00000547728,;RPH3A,missense_variant,p.Ala44Val,ENST00000550901,;RPH3A,missense_variant,p.Ala111Val,ENST00000551198,;RPH3A,missense_variant,p.Ala111Val,ENST00000552667,;RPH3A,missense_variant,p.Ala111Val,ENST00000553114,;RPH3A,missense_variant,p.Ala111Val,ENST00000547840,;RPH3A,missense_variant,p.Ala111Val,ENST00000549769,;RPH3A,downstream_gene_variant,,ENST00000548197,;RPH3A,downstream_gene_variant,,ENST00000546703,;RPH3A,downstream_gene_variant,,ENST00000551748,;RPH3A,downstream_gene_variant,,ENST00000547686,;RPH3A,non_coding_transcript_exon_variant,,ENST00000547222,;RPH3A,non_coding_transcript_exon_variant,,ENST00000552679,;RPH3A,upstream_gene_variant,,ENST00000549913,;RPH3A,3_prime_UTR_variant,,ENST00000547099,;	T	ENST00000389385	Transcript	missense_variant	829/4679	332/2085	111/694	A/V	gCc/gTc		1		1	RPH3A	HGNC	HGNC:17056	protein_coding	YES	CCDS44979.1	ENSP00000374036	Q9Y2J0		UPI000013456D	NM_001143854.1	deleterious(0.01)		6/22		PROSITE_profiles:PS50178,PROSITE_profiles:PS50916,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF118,Gene3D:3.30.40.10,Pfam_domain:PF02318,Superfamily_domains:SSF57903																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	112865515	112865515	C	T	1	0	0	0	0	1	0	0	0	13803	739	26	3		3	RPH3A	12	112865515	Missense_Mutation	SNP	C	C3N-01415_TP	811010	112865515	20409794	408	25694											
NOS1	0	.	GRCh38	chr12	117234591	117234591	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgttccgctcctccagcAgttccactttcaccatctgg	5	12	7	17	2	2	0	1	0	1	0	6	0	6	0	6	1	1	4	6	1	0	3	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.3311T>A	p.Leu1104Gln	p.L1104Q	ENST00000618760	22/30	115	101	14	134	134	0	strelka-varscan-mutect	NOS1,missense_variant,p.Leu1104Gln,ENST00000618760,NM_001204218.1;NOS1,missense_variant,p.Leu1070Gln,ENST00000317775,NM_001204214.1,NM_000620.4,NM_001204213.1;NOS1,missense_variant,p.Leu1104Gln,ENST00000338101,;NOS1,missense_variant,p.Leu1069Gln,ENST00000344089,;	T	ENST00000618760	Transcript	missense_variant	4022/12283	3311/4407	1104/1468	L/Q	cTg/cAg		1		-1	NOS1	HGNC	HGNC:7872	protein_coding	YES	CCDS55890.1	ENSP00000477999	P29475		UPI00001FBC10	NM_001204218.1	tolerated(0.21)		22/30		PROSITE_profiles:PS51384,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63,Gene3D:1.20.990.10,Pfam_domain:PF00667,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF63380																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	78	117234591	117234591	A	T	1	0	0	0	0	1	0	0	0	10586	188	7	4		4	NOS1	12	117234591	Missense_Mutation	SNP	A	C3N-01415_TP	4369076	117234591	16040718	409	25695											
VSIG10	0	.	GRCh38	chr12	118068528	118068528	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctactgcagcatcttcctcCtcctcctcctcctcctcctc	3	13	2	23	0	1	0	0	0	1	0	10	0	9	0	9	0	3	2	9	0	1	2	rs199991783		C3N-01415_TP	C3N-01415_NB	C	C																c.1416G>A	p.=	p.E472E	ENST00000359236	8/9	102	93	9	86	85	1	varscan-mutect	VSIG10,synonymous_variant,p.=,ENST00000359236,NM_019086.5;RP11-136L23.2,downstream_gene_variant,,ENST00000617135,;VSIG10,downstream_gene_variant,,ENST00000545259,;	T	ENST00000359236	Transcript	synonymous_variant	1693/4946	1416/1623	472/540	E	gaG/gaA	rs199991783	1		-1	VSIG10	HGNC	HGNC:26078	protein_coding	YES	CCDS44992.1	ENSP00000352172	Q8N0Z9		UPI000007385F	NM_019086.5			8/9		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs199991783	.												T	2	4	78	118068528	118068528	C	T	1	0	0	0	0	0	0	0	1	17773	680	24	3		3	VSIG10	12	118068528	Silent	SNP	C	C3N-01415_TP	833937	118068528	15206781	410	25696											
GCN1	0	.	GRCh38	chr12	120129493	120129493	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggatgggttctgcagaCactgtaaaaagaaccacaaa	15	7	10	9	1	1	2	0	0	1	2	1	3	1	3	1	2	2	4	1	2	5	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.7673G>T	p.Cys2558Phe	p.C2558F	ENST00000300648	57/58	214	157	57	218	217	1	strelka-varscan-mutect	GCN1,missense_variant,p.Cys2558Phe,ENST00000300648,NM_006836.1;	A	ENST00000300648	Transcript	missense_variant,splice_region_variant	7686/8675	7673/8016	2558/2671	C/F	tGt/tTt		1		-1	GCN1	HGNC	HGNC:4199	protein_coding	YES	CCDS41847.1	ENSP00000300648	Q92616		UPI0000451CA7	NM_006836.1	deleterious(0.05)		57/58		Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	120129493	120129493	C	A	1	0	0	0	0	1	0	0	0	6169	492	17	2		2	GCN1	12	120129493	Missense_Mutation	SNP	C	C3N-01415_TP	2060965	120129493	13145816	411	25697											
SBNO1	0	.	GRCh38	chr12	123341081	123341081	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctttactgtaccattgctTacatcagctgaggaggaaaa	12	13	8	8	0	2	1	1	1	1	0	2	3	2	3	1	2	5	3	1	2	5	6	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.558A>T	p.=	p.V186V	ENST00000420886	4/31	174	128	46	238	238	0	strelka-varscan-mutect	SBNO1,synonymous_variant,p.=,ENST00000267176,NM_018183.3;SBNO1,synonymous_variant,p.=,ENST00000420886,NM_001167856.1;SBNO1,synonymous_variant,p.=,ENST00000602398,;	A	ENST00000420886	Transcript	synonymous_variant	558/10981	558/4182	186/1393	V	gtA/gtT		1		-1	SBNO1	HGNC	HGNC:22973	protein_coding	YES	CCDS53844.1	ENSP00000387361	A3KN83		UPI00001FB922	NM_001167856.1			4/31																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	123341081	123341081	T	A	1	0	0	0	0	0	0	0	1	14127	1741	61	4		4	SBNO1	12	123341081	Silent	SNP	T	C3N-01415_TP	3211588	123341081	9934228	412	25698											
RNF17	0	.	GRCh38	chr13	24764331	24764331	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggagggtatccagatcatCcggtgaggagcccaagggcc	11	5	15	10	1	1	2	1	1	0	1	3	4	3	4	4	5	1	1	4	5	3	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.128C>A	p.Ser43Tyr	p.S43Y	ENST00000255324	1/36	55	49	6	56	56	0	strelka-varscan-mutect	RNF17,missense_variant,p.Ser43Tyr,ENST00000255324,NM_031277.2,NM_001184993.1;RNF17,missense_variant,p.Ser43Tyr,ENST00000255325,;RNF17,splice_region_variant,,ENST00000255326,;	A	ENST00000255324	Transcript	missense_variant,splice_region_variant	180/5119	128/4872	43/1623	S/Y	tCc/tAc		1		1	RNF17	HGNC	HGNC:10060	protein_coding	YES	CCDS9308.2	ENSP00000255324	Q9BXT8		UPI00001FC8BA	NM_031277.2,NM_001184993.1	deleterious_low_confidence(0)		1/36		PROSITE_profiles:PS50089,hmmpanther:PTHR16442,Superfamily_domains:SSF57850																	MODERATE	1	SNV	2			1										PASS		rs1037705532	.												A	3	1	78	24764331	24764331	C	A	1	0	0	0	0	1	0	0	0	13638	869	30	2		2	RNF17	13	24764331	Missense_Mutation	SNP	C	C3N-01415_TP		24764331	89599997	413	25699											
ZAR1L	0	.	GRCh38	chr13	32311545	32311545	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgaccccacaggctggCaggggctcctgggggtctct	6	7	16	12	0	1	1	0	1	1	0	3	2	2	1	3	6	0	3	3	6	1	0	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.381G>T	p.=	p.L127L	ENST00000533490	3/6	97	85	12	166	166	0	strelka-varscan-mutect	ZAR1L,synonymous_variant,p.=,ENST00000533490,;ZAR1L,synonymous_variant,p.=,ENST00000345108,NM_001136571.1;BRCA2,upstream_gene_variant,,ENST00000380152,;BRCA2,upstream_gene_variant,,ENST00000544455,NM_000059.3;BRCA2,upstream_gene_variant,,ENST00000614259,;BRCA2,upstream_gene_variant,,ENST00000530893,;	A	ENST00000533490	Transcript	synonymous_variant	800/1564	381/966	127/321	L	ctG/ctT		1		-1	ZAR1L	HGNC	HGNC:37116	protein_coding	YES	CCDS45023.1	ENSP00000437289	A6NP61		UPI00006C1387				3/6		hmmpanther:PTHR31054:SF5,hmmpanther:PTHR31054																	LOW	1	SNV	5			1										PASS		rs1480808783	.												A	2	1	78	32311545	32311545	C	A	1	0	0	0	0	0	0	0	1	18077	697	25	2		2	ZAR1L	13	32311545	Silent	SNP	C	C3N-01415_TP	7547214	32311545	82052783	414	25700											
KBTBD6	0	.	GRCh38	chr13	41131338	41131338	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctagatagatgtcatggtCaggagagatacagacagcta	15	8	12	6	0	2	4	2	0	0	4	2	6	2	5	0	2	3	2	0	2	4	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1174G>T	p.Asp392Tyr	p.D392Y	ENST00000379485	1/1	319	275	44	438	438	0	strelka-varscan-mutect	KBTBD6,missense_variant,p.Asp392Tyr,ENST00000379485,NM_152903.4;RP11-74J13.8,upstream_gene_variant,,ENST00000619407,;RP11-74J13.8,upstream_gene_variant,,ENST00000620300,;RP11-74J13.8,upstream_gene_variant,,ENST00000616251,;RP11-74J13.8,upstream_gene_variant,,ENST00000615685,;	A	ENST00000379485	Transcript	missense_variant	1409/5178	1174/2025	392/674	D/Y	Gac/Tac		1		-1	KBTBD6	HGNC	HGNC:25340	protein_coding	YES	CCDS9376.1	ENSP00000368799	Q86V97		UPI00001969BB	NM_152903.4	deleterious(0)		1/1		hmmpanther:PTHR24412:SF132,hmmpanther:PTHR24412,Gene3D:1zgkA00,Superfamily_domains:0052715																	MODERATE		SNV				1										PASS		rs1245106912	.												A	3	1	78	41131338	41131338	C	A	1	0	0	0	0	1	0	0	0	7913	826	29	2		2	KBTBD6	13	41131338	Missense_Mutation	SNP	C	C3N-01415_TP	8819793	41131338	73232990	415	25701											
TEX30	0	.	GRCh38	chr13	102768275	102768275	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctccaagaaaaacacCtgcaagtttgtattctcctg	12	12	5	12	0	1	1	0	0	1	1	3	1	2	1	4	0	3	3	4	0	6	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.283G>T	p.Gly95Cys	p.G95C	ENST00000376032	4/6	174	153	21	252	252	0	strelka-varscan-mutect	TEX30,missense_variant,p.Gly54Cys,ENST00000376019,;TEX30,missense_variant,p.Gly95Cys,ENST00000376032,NM_138779.4;TEX30,missense_variant,p.Gly95Cys,ENST00000376027,;TEX30,missense_variant,p.Gly54Cys,ENST00000376021,NM_001286776.1;TEX30,missense_variant,p.Gly95Cys,ENST00000376029,NM_001286775.1;TEX30,missense_variant,p.Gly54Cys,ENST00000376022,;TEX30,downstream_gene_variant,,ENST00000487260,;	A	ENST00000376032	Transcript	missense_variant	473/1165	283/684	95/227	G/C	Ggt/Tgt		1		-1	TEX30	HGNC	HGNC:25188	protein_coding	YES	CCDS9503.2	ENSP00000365200	Q5JUR7	A0A024RDZ1	UPI0000070F4A	NM_138779.4	deleterious(0.01)		4/6		hmmpanther:PTHR13136,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		rs1260559320	.												A	3	1	78	102768275	102768275	C	A	1	0	0	0	0	1	0	0	0	16209	681	24	2		2	TEX30	13	102768275	Missense_Mutation	SNP	C	C3N-01415_TP	61636937	102768275	11596053	416	25702											
TEP1	0	.	GRCh38	chr14	20368893	20368893	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atggagggctgtgacagagcCcgagtgaatctcaaagagga	13	6	15	7	1	1	4	1	2	1	2	2	7	1	6	1	3	1	1	1	3	2	0	rs772873649		C3N-01415_TP	C3N-01415_NB	C	C																c.7666G>T	p.Gly2556Cys	p.G2556C	ENST00000262715	54/55	163	117	46	224	224	0	strelka-varscan-mutect	TEP1,missense_variant,p.Gly2556Cys,ENST00000262715,NM_007110.4;TEP1,missense_variant,p.Gly2448Cys,ENST00000556935,;TEP1,downstream_gene_variant,,ENST00000553984,;TEP1,3_prime_UTR_variant,,ENST00000555727,;TEP1,3_prime_UTR_variant,,ENST00000553365,;TEP1,intron_variant,,ENST00000555008,;TEP1,downstream_gene_variant,,ENST00000557314,;TEP1,downstream_gene_variant,,ENST00000556488,;TEP1,downstream_gene_variant,,ENST00000471684,;	A	ENST00000262715	Transcript	missense_variant	7707/10695	7666/7884	2556/2627	G/C	Ggc/Tgc	rs772873649	1		-1	TEP1	HGNC	HGNC:11726	protein_coding	YES	CCDS9548.1	ENSP00000262715	Q99973		UPI000013D30B	NM_007110.4	deleterious(0)		54/55		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847:SF448,hmmpanther:PTHR22847,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		rs772873649	.												A	3	1	78	20368893	20368893	C	A	1	0	0	0	0	1	0	0	0	16175	623	22	2		2	TEP1	14	20368893	Missense_Mutation	SNP	C	C3N-01415_TP		20368893	86674825	417	25703											
INSM2	0	.	GRCh38	chr14	35534853	35534853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccggcggcgagcgccgcGgcaaggcacccacggactgc	6	1	17	17	8	0	0	0	0	0	0	0	2	0	1	3	6	2	2	3	6	1	0	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.601G>T	p.Gly201Cys	p.G201C	ENST00000307169	1/1	78	71	7	101	101	0	strelka-varscan-mutect	INSM2,missense_variant,p.Gly201Cys,ENST00000307169,NM_032594.3;RALGAPA1,downstream_gene_variant,,ENST00000637992,;RALGAPA1,downstream_gene_variant,,ENST00000307138,NM_194301.2;RALGAPA1,downstream_gene_variant,,ENST00000389698,NM_014990.1;RALGAPA1,downstream_gene_variant,,ENST00000382366,NM_001283043.1;RALGAPA1,downstream_gene_variant,,ENST00000554259,;RALGAPA1,downstream_gene_variant,,ENST00000554573,;RALGAPA1,downstream_gene_variant,,ENST00000556106,;	T	ENST00000307169	Transcript	missense_variant	812/3013	601/1701	201/566	G/C	Ggc/Tgc		1		1	INSM2	HGNC	HGNC:17539	protein_coding	YES	CCDS9657.1	ENSP00000306523	Q96T92		UPI000013EBD6	NM_032594.3	deleterious(0.02)		1/1		hmmpanther:PTHR15065,hmmpanther:PTHR15065:SF6																	MODERATE		SNV				1										PASS		rs1241978074	.												T	3	4	78	35534853	35534853	G	T	1	0	0	0	0	1	0	0	0	7674	1116	39	1		1	INSM2	14	35534853	Missense_Mutation	SNP	G	C3N-01415_TP	15165960	35534853	71508865	418	25704											
GPR65	0	.	GRCh38	chr14	88010890	88010890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagcatgacctggatcacTatttgtttcccattgtttac	10	15	6	10	0	1	1	1	1	0	0	2	2	2	2	2	1	3	3	2	1	3	6	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.43T>C	p.Tyr15His	p.Y15H	ENST00000267549	2/2	175	161	14	240	240	0	strelka-varscan-mutect	GPR65,missense_variant,p.Tyr15His,ENST00000267549,NM_003608.3;RP11-300J18.2,non_coding_transcript_exon_variant,,ENST00000554433,;	C	ENST00000267549	Transcript	missense_variant	601/4522	43/1014	15/337	Y/H	Tat/Cat		1		1	GPR65	HGNC	HGNC:4517	protein_coding	YES	CCDS9879.1	ENSP00000267549	Q8IYL9	B5B0C2	UPI000007422C	NM_003608.3	tolerated(0.06)		2/2		Gene3D:1.20.1070.10,Prints_domain:PR01649,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF49,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	88010890	88010890	T	C	1	0	0	0	0	1	0	0	0	6589	1522	53	5		5	GPR65	14	88010890	Missense_Mutation	SNP	T	C3N-01415_TP	52476037	88010890	19032828	419	25705											
TTC7B	0	.	GRCh38	chr14	90593627	90593627	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgtggcatggacggagcCtgtgagaggtttttgagaag	9	10	17	5	2	0	2	0	2	0	2	0	7	0	4	1	4	1	2	1	4	1	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1967-1G>T		p.X656_splice	ENST00000328459		40	29	11	51	51	0	strelka-varscan-mutect	TTC7B,splice_acceptor_variant,,ENST00000328459,NM_001010854.1;TTC7B,splice_acceptor_variant,,ENST00000553972,;TTC7B,splice_acceptor_variant,,ENST00000557292,;TTC7B,splice_acceptor_variant,,ENST00000555894,;TTC7B,splice_acceptor_variant,,ENST00000554654,;TTC7B,splice_acceptor_variant,,ENST00000555005,;TTC7B,non_coding_transcript_exon_variant,,ENST00000557059,;	A	ENST00000328459	Transcript	splice_acceptor_variant	-/19458	1967/2532	656/843				1		-1	TTC7B	HGNC	HGNC:19858	protein_coding	YES	CCDS32140.1	ENSP00000336127	Q86TV6		UPI00001FD9F0	NM_001010854.1				17/19																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	78	90593627	90593627	C	A	1	0	0	0	0	0	0	1	0	17223	695	24	2		2	TTC7B	14	90593627	Splice_Site	SNP	C	C3N-01415_TP	2582737	90593627	16450091	420	25706											
UNC79	0	.	GRCh38	chr14	93577842	93577842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgccattctttcttgtagGtgagtgttgcctctgatcct	4	18	10	9	0	3	2	0	2	3	0	4	2	4	2	3	1	2	3	3	1	1	6			C3N-01415_TP	C3N-01415_NB	G	G																c.1681G>T	p.Val561Leu	p.V561L	ENST00000256339	18/50	219	201	18	238	238	0	strelka-varscan-mutect	UNC79,missense_variant,p.Val738Leu,ENST00000553484,;UNC79,missense_variant,p.Val738Leu,ENST00000555664,;UNC79,missense_variant,p.Val561Leu,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Val738Leu,ENST00000393151,;UNC79,missense_variant,p.Val561Leu,ENST00000621021,;	T	ENST00000256339	Transcript	missense_variant,splice_region_variant	2336/8400	1681/7377	561/2458	V/L	Gtg/Ttg	COSM5292867,COSM5292868	1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3	tolerated(0.15)		18/50		hmmpanther:PTHR21696:SF2,hmmpanther:PTHR21696											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	78	93577842	93577842	G	T	1	0	0	0	0	1	0	0	0	17520	1275	44	2		2	UNC79	14	93577842	Missense_Mutation	SNP	G	C3N-01415_TP	2984215	93577842	13465876	421	25707											
SERPINA11	0	.	GRCh38	chr14	94448400	94448400	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttggggctgggcagggcaagGgtgtggaggaggctccggaa	7	6	22	6	1	0	0	0	0	0	0	1	3	1	3	1	9	0	4	1	9	2	1	rs769649474		C3N-01415_TP	C3N-01415_NB	G	G																c.375C>A	p.=	p.T125T	ENST00000334708	2/5	385	348	37	416	415	1	strelka-varscan-mutect	SERPINA11,synonymous_variant,p.=,ENST00000334708,NM_001080451.1;RP11-349I1.2,intron_variant,,ENST00000536735,;	T	ENST00000334708	Transcript	synonymous_variant	440/1476	375/1269	125/422	T	acC/acA	rs769649474	1		-1	SERPINA11	HGNC	HGNC:19193	protein_coding	YES	CCDS32149.1	ENSP00000335024	Q86U17		UPI000015DA3A	NM_001080451.1			2/5		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF154,SMART_domains:SM00093,Superfamily_domains:SSF56574																	LOW	1	SNV	1			1										PASS		rs769649474	.												T	2	4	78	94448400	94448400	G	T	1	0	0	0	0	0	0	0	1	14364	1219	43	2		2	SERPINA11	14	94448400	Silent	SNP	G	C3N-01415_TP	870558	94448400	12595318	422	25708											
PAPOLA	0	.	GRCh38	chr14	96535954	96535954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagaactccacgtacaatGtgtccgtttcaacacggatg	13	9	8	11	3	1	1	1	0	0	1	3	2	3	2	2	1	4	2	2	1	5	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.985G>T	p.Val329Leu	p.V329L	ENST00000216277	11/22	108	93	15	145	145	0	strelka-varscan-mutect	PAPOLA,missense_variant,p.Val329Leu,ENST00000216277,NM_032632.4,NM_001293627.1;PAPOLA,missense_variant,p.Val329Leu,ENST00000392990,;PAPOLA,missense_variant,p.Val79Leu,ENST00000555626,NM_001293632.1,NM_001293628.1;PAPOLA,downstream_gene_variant,,ENST00000557320,NM_001252006.1;PAPOLA,downstream_gene_variant,,ENST00000557471,NM_001252007.1;PAPOLA,downstream_gene_variant,,ENST00000553461,;RP11-872J21.5,upstream_gene_variant,,ENST00000618976,;PAPOLA,downstream_gene_variant,,ENST00000554130,;PAPOLA,3_prime_UTR_variant,,ENST00000553689,;PAPOLA,non_coding_transcript_exon_variant,,ENST00000555021,;PAPOLA,non_coding_transcript_exon_variant,,ENST00000555131,;PAPOLA,downstream_gene_variant,,ENST00000555912,;PAPOLA,downstream_gene_variant,,ENST00000553357,;PAPOLA,upstream_gene_variant,,ENST00000554666,;PAPOLA,downstream_gene_variant,,ENST00000555224,;PAPOLA,downstream_gene_variant,,ENST00000557406,;	T	ENST00000216277	Transcript	missense_variant	1205/4519	985/2238	329/745	V/L	Gtg/Ttg		1		1	PAPOLA	HGNC	HGNC:14981	protein_coding	YES	CCDS9946.1	ENSP00000216277	P51003	A0A024R6M3	UPI0000074269	NM_032632.4,NM_001293627.1	deleterious(0.02)		11/22		hmmpanther:PTHR10682:SF9,hmmpanther:PTHR10682,Pfam_domain:PF04928,PIRSF_domain:PIRSF018425,Gene3D:2q66A01,Superfamily_domains:SSF81631																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	96535954	96535954	G	T	1	0	0	0	0	1	0	0	0	11509	1377	48	2		2	PAPOLA	14	96535954	Missense_Mutation	SNP	G	C3N-01415_TP	2087554	96535954	10507764	423	25709											
TDRD9	0	.	GRCh38	chr14	104042145	104042145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgtcttgggccagagaGagttgcgcagcttcaagaca	11	8	13	9	1	2	3	1	0	1	3	2	4	2	3	1	1	2	3	1	1	2	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.3932G>T	p.Arg1311Ile	p.R1311I	ENST00000409874	34/36	143	109	34	145	145	0	strelka-varscan-mutect	TDRD9,missense_variant,p.Arg1311Ile,ENST00000409874,NM_153046.2;TDRD9,missense_variant,p.Arg847Ile,ENST00000557332,;TDRD9,3_prime_UTR_variant,,ENST00000339063,;	T	ENST00000409874	Transcript	missense_variant	3980/4782	3932/4149	1311/1382	R/I	aGa/aTa		1		1	TDRD9	HGNC	HGNC:20122	protein_coding	YES	CCDS9987.2	ENSP00000387303	Q8NDG6		UPI0001642306	NM_153046.2	tolerated(0.06)		34/36																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	78	104042145	104042145	G	T	1	0	0	0	0	1	0	0	0	16146	942	33	2		2	TDRD9	14	104042145	Missense_Mutation	SNP	G	C3N-01415_TP	7506191	104042145	3001573	424	25710											
KIF26A	0	.	GRCh38	chr14	104152061	104152061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgacaagctaccagcacctgGggccctgccagcctgtcgcc	7	5	11	18	2	0	0	0	0	0	0	1	1	0	0	6	2	5	2	6	2	2	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.335G>T	p.Gly112Val	p.G112V	ENST00000423312	3/15	710	532	178	683	680	3	strelka-varscan-mutect	KIF26A,missense_variant,p.Gly112Val,ENST00000423312,NM_015656.1;KIF26A,5_prime_UTR_variant,,ENST00000315264,;	T	ENST00000423312	Transcript	missense_variant	335/5649	335/5649	112/1882	G/V	gGg/gTg		1		1	KIF26A	HGNC	HGNC:20226	protein_coding	YES	CCDS45171.1	ENSP00000388241	Q9ULI4		UPI00006C145D	NM_015656.1	deleterious(0)		3/15																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	78	104152061	104152061	G	T	1	0	0	0	0	1	0	0	0	8159	1232	43	2		2	KIF26A	14	104152061	Missense_Mutation	SNP	G	C3N-01415_TP	109916	104152061	2891657	425	25711											
KIF26A	0	.	GRCh38	chr14	104175304	104175304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcagaccacttccgctgcaGcaccttcgcggagctgcagg	7	6	12	16	4	0	1	0	0	0	1	2	2	1	2	3	2	4	6	3	2	0	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2516G>T	p.Ser839Ile	p.S839I	ENST00000423312	12/15	307	277	30	325	325	0	strelka-varscan-mutect	KIF26A,missense_variant,p.Ser700Ile,ENST00000315264,;KIF26A,missense_variant,p.Ser839Ile,ENST00000423312,NM_015656.1;	T	ENST00000423312	Transcript	missense_variant	2516/5649	2516/5649	839/1882	S/I	aGc/aTc		1		1	KIF26A	HGNC	HGNC:20226	protein_coding	YES	CCDS45171.1	ENSP00000388241	Q9ULI4		UPI00006C145D	NM_015656.1	deleterious(0)		12/15																			MODERATE	1	SNV	5			1										PASS		rs1196175799	.												T	3	4	78	104175304	104175304	G	T	1	0	0	0	0	1	0	0	0	8159	971	34	2		2	KIF26A	14	104175304	Missense_Mutation	SNP	G	C3N-01415_TP	23243	104175304	2868414	426	25712											
KIF26A	0	.	GRCh38	chr14	104177235	104177235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcccgcctgtaggagcGgcgcagccaaggctgtgggg	6	5	17	13	3	0	0	0	0	0	0	1	1	1	1	3	5	3	4	3	5	2	1	rs775132075		C3N-01415_TP	C3N-01415_NB	G	G																c.4447G>A	p.Gly1483Ser	p.G1483S	ENST00000423312	12/15	129	115	14	113	113	0	strelka-varscan-mutect	KIF26A,missense_variant,p.Gly1344Ser,ENST00000315264,;KIF26A,missense_variant,p.Gly1483Ser,ENST00000423312,NM_015656.1;	A	ENST00000423312	Transcript	missense_variant	4447/5649	4447/5649	1483/1882	G/S	Ggc/Agc	rs775132075,COSM1368485	1		1	KIF26A	HGNC	HGNC:20226	protein_coding	YES	CCDS45171.1	ENSP00000388241	Q9ULI4		UPI00006C145D	NM_015656.1	tolerated(1)		12/15		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs775132075	.												A	3	1	78	104177235	104177235	G	A	1	0	0	0	0	1	0	0	0	8159	1116	39	1		1	KIF26A	14	104177235	Missense_Mutation	SNP	G	C3N-01415_TP	1931	104177235	2866483	427	25713											
AHNAK2	0	.	GRCh38	chr14	104946532	104946532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttgaacttgctgtctttGgcagtcacatccttgtcggc	6	16	9	10	1	2	1	1	1	1	0	4	1	3	1	1	2	2	2	1	2	1	5	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.8919C>T	p.=	p.A2973A	ENST00000333244	7/7	627	575	52	683	683	0	varscan-mutect	AHNAK2,synonymous_variant,p.=,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;	A	ENST00000333244	Transcript	synonymous_variant	9039/18254	8919/17388	2973/5795	A	gcC/gcT		1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2			7/7		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	78	104946532	104946532	G	A	1	0	0	0	0	0	0	0	1	492	1335	47	3		3	AHNAK2	14	104946532	Silent	SNP	G	C3N-01415_TP	769297	104946532	2097186	428	25714											
GOLGA6L2	0	.	GRCh38	chr15	23440703	23440703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctgctcccgcattctctCctccttctcccgcagcctct	2	14	4	21	2	4	0	0	0	4	0	9	0	7	0	5	0	2	3	5	0	0	3	rs373079057		C3N-01415_TP	C3N-01415_NB	C	C																c.1772G>T	p.Gly591Val	p.G591V	ENST00000567107	8/8	606	561	45	751	750	1	varscan-mutect	GOLGA6L2,missense_variant,p.Gly591Val,ENST00000567107,NM_001304388.1;GOLGA6L2,intron_variant,,ENST00000345070,;GOLGA6L2,intron_variant,,ENST00000312015,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,;	A	ENST00000567107	Transcript	missense_variant	1825/3030	1772/2730	591/909	G/V	gGa/gTa	rs373079057	1		-1	GOLGA6L2	HGNC	HGNC:26695	protein_coding	YES	CCDS76728.1	ENSP00000454407		H3BMJ4	UPI00024672CE	NM_001304388.1	deleterious_low_confidence(0.01)		8/8		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	78	23440703	23440703	C	A	1	0	0	0	0	1	0	0	0	6440	855	30	2		2	GOLGA6L2	15	23440703	Missense_Mutation	SNP	C	C3N-01415_TP		23440703	78550486	429	25715											
GJD2	0	.	GRCh38	chr15	34753025	34753025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaacttcttatcttctCgtttgcccccaccactgccc	5	15	4	17	1	3	0	0	0	3	0	4	0	3	0	4	0	4	2	4	0	2	5	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.419G>T	p.Arg140Leu	p.R140L	ENST00000290374	2/2	232	202	30	375	373	2	strelka-varscan-mutect	GJD2,missense_variant,p.Arg140Leu,ENST00000290374,NM_020660.2;RP11-814P5.1,upstream_gene_variant,,ENST00000503496,;RP11-814P5.1,upstream_gene_variant,,ENST00000558707,;	A	ENST00000290374	Transcript	missense_variant	896/2889	419/966	140/321	R/L	cGa/cTa		1		-1	GJD2	HGNC	HGNC:19154	protein_coding	YES	CCDS10040.1	ENSP00000290374	Q9UKL4		UPI00001287E3	NM_020660.2	tolerated(0.16)		2/2		Pfam_domain:PF00029																	MODERATE	1	SNV	1			1										PASS		rs969962661	.												A	3	1	78	34753025	34753025	C	A	1	0	0	0	0	1	0	0	0	6294	884	31	1		1	GJD2	15	34753025	Missense_Mutation	SNP	C	C3N-01415_TP	11312322	34753025	67238164	430	25716											
LTK	0	.	GRCh38	chr15	41507626	41507626	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgccaccacagccaccatCagaaccagagggcctggggg	10	4	13	14	0	1	2	1	0	0	2	1	2	1	2	6	3	3	1	6	3	1	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1281G>T	p.=	p.L427L	ENST00000263800	10/20	191	171	20	235	235	0	strelka-varscan-mutect	LTK,synonymous_variant,p.=,ENST00000263800,NM_002344.5;LTK,synonymous_variant,p.=,ENST00000355166,NM_206961.3;LTK,synonymous_variant,p.=,ENST00000453182,NM_001135685.1;LTK,synonymous_variant,p.=,ENST00000561619,;ITPKA,downstream_gene_variant,,ENST00000260386,NM_002220.2;LTK,non_coding_transcript_exon_variant,,ENST00000563518,;LTK,intron_variant,,ENST00000569283,;ITPKA,downstream_gene_variant,,ENST00000462816,;ITPKA,downstream_gene_variant,,ENST00000491007,;	A	ENST00000263800	Transcript	synonymous_variant	1378/3046	1281/2595	427/864	L	ctG/ctT		1		-1	LTK	HGNC	HGNC:6721	protein_coding	YES	CCDS10077.1	ENSP00000263800	P29376		UPI000013D463	NM_002344.5			10/20		Transmembrane_helices:TMhelix,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF294																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	41507626	41507626	C	A	1	0	0	0	0	0	0	0	1	8986	813	29	2		2	LTK	15	41507626	Silent	SNP	C	C3N-01415_TP	6754601	41507626	60483563	431	25717											
ZNF106	0	.	GRCh38	chr15	42442277	42442278	+	Frame_Shift_Ins	INS	-	-	CT																															gatggagacacatgggaagaINStggaggctccagaaaaagtg																								novel		C3N-01415_TP	C3N-01415_NB	-	-																c.3489_3490insAG	p.Ser1165LeufsTer15	p.S1165Lfs*15	ENST00000263805	7/19	331	301	30	466	466	0	varindel-pindel	ZNF106,frameshift_variant,p.Ser1165LeufsTer15,ENST00000263805,NM_022473.2;ZNF106,frameshift_variant,p.Ser393LeufsTer15,ENST00000565380,NM_001284307.1;ZNF106,frameshift_variant,p.Ser350LeufsTer15,ENST00000565611,NM_001284306.1;ZNF106,frameshift_variant,p.Ser219LeufsTer15,ENST00000565500,;ZNF106,frameshift_variant,p.Ser123LeufsTer15,ENST00000567772,;ZNF106,downstream_gene_variant,,ENST00000565948,;	CT	ENST00000263805	Transcript	frameshift_variant	3816-3817/10460	3489-3490/5652	1163-1164/1883	-/X	-/AG		1		-1	ZNF106	HGNC	HGNC:12886	protein_coding	YES	CCDS32208.1	ENSP00000263805	Q9H2Y7		UPI000006D6CC	NM_022473.2			7/19		hmmpanther:PTHR14435																	HIGH	1	insertion	1			1										PASS		.	.												CT	7	5	78	42442277	42442277	-	CT	1	0	1	1	0	0	0	0	0	18294	333	12	0		0	ZNF106	15	42442277	Frame_Shift_Ins	INS	-	C3N-01415_TP	934651	42442277	59548912	432	25718											
TGM5	0	.	GRCh38	chr15	43235684	43235684	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaccacatcactgggtCgaagggaaggtgtatgcagg	10	8	14	9	1	1	0	1	0	0	0	2	2	1	1	1	4	2	3	1	4	3	2	rs768303078		C3N-01415_TP	C3N-01415_NB	C	C																c.1499G>T	p.Arg500Leu	p.R500L	ENST00000220420	10/13	354	301	53	419	418	1	strelka-varscan-mutect	TGM5,missense_variant,p.Arg500Leu,ENST00000220420,NM_201631.3;TGM5,missense_variant,p.Arg499Leu,ENST00000610827,;TGM5,missense_variant,p.Arg417Leu,ENST00000611276,;TGM5,missense_variant,p.Arg501Leu,ENST00000622115,;TGM5,missense_variant,p.Arg418Leu,ENST00000349114,NM_004245.3;TGM5,non_coding_transcript_exon_variant,,ENST00000396996,;TGM5,downstream_gene_variant,,ENST00000635871,;TGM5,downstream_gene_variant,,ENST00000563838,;	A	ENST00000220420	Transcript	missense_variant	1507/2767	1499/2163	500/720	R/L	cGa/cTa	rs768303078	1		-1	TGM5	HGNC	HGNC:11781	protein_coding	YES	CCDS32212.1	ENSP00000220420	O43548		UPI0000136CCF	NM_201631.3	deleterious(0.04)		10/13		PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF38																	MODERATE	1	SNV	1			1										PASS		rs768303078	.												A	3	1	78	43235684	43235684	C	A	1	0	0	0	0	1	0	0	0	16266	884	31	1		1	TGM5	15	43235684	Missense_Mutation	SNP	C	C3N-01415_TP	793407	43235684	58755505	433	25719											
TGM5	0	.	GRCh38	chr15	43253549	43253549	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagacggggcttccccgcAgagcacagtctgtggctggg	6	7	16	12	3	1	2	0	0	1	2	2	2	2	2	2	4	1	5	2	4	1	2	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.641T>G	p.Leu214Arg	p.L214R	ENST00000220420	5/13	451	396	55	550	546	4	strelka-varscan-mutect	TGM5,missense_variant,p.Leu214Arg,ENST00000220420,NM_201631.3;TGM5,missense_variant,p.Leu213Arg,ENST00000610827,;TGM5,missense_variant,p.Leu131Arg,ENST00000611276,;TGM5,missense_variant,p.Leu215Arg,ENST00000622115,;TGM5,missense_variant,p.Leu132Arg,ENST00000349114,NM_004245.3;TGM5,non_coding_transcript_exon_variant,,ENST00000635871,;	C	ENST00000220420	Transcript	missense_variant	649/2767	641/2163	214/720	L/R	cTg/cGg		1		-1	TGM5	HGNC	HGNC:11781	protein_coding	YES	CCDS32212.1	ENSP00000220420	O43548		UPI0000136CCF	NM_201631.3	tolerated(0.94)		5/13		Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF38,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		rs606231277	.												C	3	2	78	43253549	43253549	A	C	1	0	0	0	0	1	0	0	0	16266	188	7	5		5	TGM5	15	43253549	Missense_Mutation	SNP	A	C3N-01415_TP	17865	43253549	58737640	434	25720											
STRC	0	.	GRCh38	chr15	43600611	43600611	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccaccaggcagtacaagtAggtgggccagaacctccagt	12	5	11	13	0	0	1	0	0	0	1	1	1	1	1	5	3	2	3	5	3	4	2	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.4916T>G	p.Leu1639Arg	p.L1639R	ENST00000450892	26/29	451	401	50	527	527	0	strelka-varscan-mutect	STRC,missense_variant,p.Leu1639Arg,ENST00000450892,NM_153700.2;STRC,missense_variant,p.Leu866Arg,ENST00000541030,;CKMT1B,downstream_gene_variant,,ENST00000300283,NM_020990.3;CKMT1B,downstream_gene_variant,,ENST00000441322,;CKMT1B,downstream_gene_variant,,ENST00000453782,;CKMT1B,downstream_gene_variant,,ENST00000627381,;CKMT1B,downstream_gene_variant,,ENST00000453733,;RNU6-554P,upstream_gene_variant,,ENST00000410466,;CKMT1B,intron_variant,,ENST00000411560,;CKMT1B,downstream_gene_variant,,ENST00000498538,;STRC,3_prime_UTR_variant,,ENST00000428650,;STRC,3_prime_UTR_variant,,ENST00000440125,;STRC,non_coding_transcript_exon_variant,,ENST00000485556,;STRC,non_coding_transcript_exon_variant,,ENST00000471703,;STRC,non_coding_transcript_exon_variant,,ENST00000448437,;STRC,non_coding_transcript_exon_variant,,ENST00000460952,;CKMT1B,downstream_gene_variant,,ENST00000437534,;STRC,downstream_gene_variant,,ENST00000455136,;CKMT1B,downstream_gene_variant,,ENST00000428981,;STRC,downstream_gene_variant,,ENST00000493750,;	C	ENST00000450892	Transcript	missense_variant	4994/5680	4916/5328	1639/1775	L/R	cTa/cGa		1		-1	STRC	HGNC	HGNC:16035	protein_coding	YES	CCDS10098.1	ENSP00000401513	Q7RTU9		UPI000013E60F	NM_153700.2	tolerated(0.56)		26/29		hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF14																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	78	43600611	43600611	A	C	1	0	0	0	0	1	0	0	0	15709	420	15	5		5	STRC	15	43600611	Missense_Mutation	SNP	A	C3N-01415_TP	347062	43600611	58390578	435	25721											
NEDD4	0	.	GRCh38	chr15	55860553	55860553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctatacatggtggcttcatCttctcttataatttcccagt	8	17	6	10	0	3	0	1	0	2	0	5	0	4	0	1	2	1	2	1	2	4	7	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.2071G>A	p.Asp691Asn	p.D691N	ENST00000508342	7/25	135	117	18	216	216	0	strelka-varscan-mutect	NEDD4,missense_variant,p.Asp691Asn,ENST00000508342,NM_001284338.1;NEDD4,missense_variant,p.Asp619Asn,ENST00000338963,NM_198400.3;NEDD4,missense_variant,p.Asp675Asn,ENST00000506154,NM_001284339.1;NEDD4,missense_variant,p.Asp272Asn,ENST00000435532,NM_006154.3;NEDD4,missense_variant,p.Asp282Asn,ENST00000508871,NM_001284340.1;NEDD4,downstream_gene_variant,,ENST00000514893,;NEDD4,3_prime_UTR_variant,,ENST00000503468,;NEDD4,downstream_gene_variant,,ENST00000502612,;NEDD4,downstream_gene_variant,,ENST00000507063,;	T	ENST00000508342	Transcript	missense_variant	2371/7235	2071/3960	691/1319	D/N	Gat/Aat		1		-1	NEDD4	HGNC	HGNC:7727	protein_coding	YES	CCDS61644.1	ENSP00000424827	P46934		UPI00001FE52D	NM_001284338.1	deleterious(0)		7/25		hmmpanther:PTHR11254:SF282,hmmpanther:PTHR11254																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	55860553	55860553	C	T	1	0	0	0	0	1	0	0	0	10338	913	32	3		3	NEDD4	15	55860553	Missense_Mutation	SNP	C	C3N-01415_TP	12259942	55860553	46130636	436	25722											
VPS13C	0	.	GRCh38	chr15	61951917	61951917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttccattccaagttgcaGgacatttagctcatgtaaag	12	12	8	9	0	1	0	1	0	0	0	3	1	3	1	2	1	3	5	2	1	4	6	rs769215114		C3N-01415_TP	C3N-01415_NB	G	G																c.4363C>T	p.=	p.L1455L	ENST00000261517	39/85	200	182	18	296	295	1	strelka-varscan-mutect	VPS13C,synonymous_variant,p.=,ENST00000395896,NM_001018088.2;VPS13C,synonymous_variant,p.=,ENST00000261517,NM_020821.2;VPS13C,synonymous_variant,p.=,ENST00000249837,NM_017684.4;VPS13C,synonymous_variant,p.=,ENST00000395898,NM_018080.3;VPS13C,non_coding_transcript_exon_variant,,ENST00000558088,;	A	ENST00000261517	Transcript	synonymous_variant	4437/13400	4363/11262	1455/3753	L	Ctg/Ttg	rs769215114	1		-1	VPS13C	HGNC	HGNC:23594	protein_coding	YES	CCDS32257.1	ENSP00000261517	Q709C8		UPI000023B7D3	NM_020821.2			39/85		hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF69																	LOW	1	SNV	1			1										PASS		rs769215114	.												A	2	1	78	61951917	61951917	G	A	1	0	0	0	0	0	0	0	1	17738	991	35	3		3	VPS13C	15	61951917	Silent	SNP	G	C3N-01415_TP	6091364	61951917	40039272	437	25723											
STRA6	0	.	GRCh38	chr15	74182205	74182205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatgagtctccaggaagacCcaatgggctgccatgttctg	9	10	11	11	0	3	2	1	1	2	1	4	3	3	3	3	2	1	2	3	2	2	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1593G>T	p.Trp531Cys	p.W531C	ENST00000563965	16/19	590	525	65	708	707	1	strelka-varscan-mutect	STRA6,missense_variant,p.Trp492Cys,ENST00000323940,NM_001142617.1;STRA6,missense_variant,p.Trp492Cys,ENST00000616000,NM_001142618.1;STRA6,missense_variant,p.Trp492Cys,ENST00000395105,NM_022369.3;STRA6,missense_variant,p.Trp483Cys,ENST00000423167,NM_001142619.1;STRA6,missense_variant,p.Trp484Cys,ENST00000416286,;STRA6,missense_variant,p.Trp492Cys,ENST00000449139,;STRA6,missense_variant,p.Trp529Cys,ENST00000535552,NM_001199040.1;STRA6,missense_variant,p.Trp531Cys,ENST00000563965,NM_001199042.1;STRA6,missense_variant,p.Trp507Cys,ENST00000574278,NM_001199041.1;STRA6,missense_variant,p.Trp111Cys,ENST00000572785,;RP11-665J16.1,upstream_gene_variant,,ENST00000561647,;STRA6,non_coding_transcript_exon_variant,,ENST00000574439,;STRA6,non_coding_transcript_exon_variant,,ENST00000545137,;STRA6,downstream_gene_variant,,ENST00000569936,;STRA6,downstream_gene_variant,,ENST00000575272,;	A	ENST00000563965	Transcript	missense_variant	1932/2565	1593/2121	531/706	W/C	tgG/tgT		1		-1	STRA6	HGNC	HGNC:30650	protein_coding	YES	CCDS55973.1	ENSP00000456609	Q9BX79		UPI00015F460B	NM_001199042.1	deleterious(0.02)		16/19		Transmembrane_helices:TMhelix,hmmpanther:PTHR21444:SF16,hmmpanther:PTHR21444,Pfam_domain:PF14752																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	74182205	74182205	C	A	1	0	0	0	0	1	0	0	0	15703	624	22	2		2	STRA6	15	74182205	Missense_Mutation	SNP	C	C3N-01415_TP	12230288	74182205	27808984	438	25724											
TICRR	0	.	GRCh38	chr15	89575806	89575806	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctggggtcccgctcgtggGaggactttgaggaggagctg	6	8	19	8	2	0	1	0	1	0	0	2	5	1	5	1	6	2	3	1	6	0	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.220G>T	p.Glu74Ter	p.E74*	ENST00000268138	1/22	310	277	33	364	364	0	strelka-varscan-mutect	TICRR,stop_gained,p.Glu74Ter,ENST00000268138,NM_152259.3;TICRR,stop_gained,p.Glu74Ter,ENST00000560985,NM_001308025.1;RP11-429B14.1,intron_variant,,ENST00000559041,;RP11-429B14.3,downstream_gene_variant,,ENST00000560477,;	T	ENST00000268138	Transcript	stop_gained	325/6775	220/5733	74/1910	E/*	Gag/Tag		1		1	TICRR	HGNC	HGNC:28704	protein_coding	YES	CCDS10352.2	ENSP00000268138	Q7Z2Z1		UPI0000D61399	NM_152259.3			1/22		Low_complexity_(Seg):seg,hmmpanther:PTHR21556																	HIGH		SNV	5			1										PASS		rs1364894231	.												T	4	4	78	89575806	89575806	G	T	1	0	0	0	0	0	1	0	0	16328	1175	41	2		2	TICRR	15	89575806	Nonsense_Mutation	SNP	G	C3N-01415_TP	15393601	89575806	12415383	439	25725											
PCSK6	0	.	GRCh38	chr15	101313441	101313441	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccctcaccacaggctggCacacacttccagtcgtggaa	11	6	9	15	1	1	0	1	0	0	0	3	1	2	1	3	3	1	2	3	3	2	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.2634G>T	p.=	p.V878V	ENST00000611716	20/22	240	210	30	250	250	0	strelka-varscan-mutect	PCSK6,synonymous_variant,p.=,ENST00000611716,NM_002570.4;PCSK6,synonymous_variant,p.=,ENST00000618548,NM_138319.3;PCSK6,synonymous_variant,p.=,ENST00000398185,NM_001291309.1;PCSK6,synonymous_variant,p.=,ENST00000622483,;PCSK6,synonymous_variant,p.=,ENST00000619160,;PCSK6,synonymous_variant,p.=,ENST00000632686,;PCSK6,intron_variant,,ENST00000558951,;PCSK6,upstream_gene_variant,,ENST00000558864,;PCSK6,non_coding_transcript_exon_variant,,ENST00000557794,;PCSK6,non_coding_transcript_exon_variant,,ENST00000558433,;PCSK6,upstream_gene_variant,,ENST00000559430,;PCSK6,non_coding_transcript_exon_variant,,ENST00000560785,;PCSK6,upstream_gene_variant,,ENST00000559499,;	A	ENST00000611716	Transcript	synonymous_variant	2803/4409	2634/2910	878/969	V	gtG/gtT		1		-1	PCSK6	HGNC	HGNC:8569	protein_coding	YES	CCDS73790.1	ENSP00000482760	P29122		UPI00001311D0	NM_002570.4			20/22		hmmpanther:PTHR10795:SF345,hmmpanther:PTHR10795,Gene3D:2.10.220.10,SMART_domains:SM00181,SMART_domains:SM00261,Superfamily_domains:SSF57184																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	101313441	101313441	C	A	1	0	0	0	0	0	0	0	1	11692	697	25	2		2	PCSK6	15	101313441	Silent	SNP	C	C3N-01415_TP	11737635	101313441	677748	440	25726											
SSTR5	0	.	GRCh38	chr16	1079124	1079124	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttctcaacctggcagtggccGacgtcctgtacatgctgggg	6	10	13	12	2	1	0	1	0	1	0	3	1	2	0	3	4	3	3	3	4	2	2	rs771072236		C3N-01415_TP	C3N-01415_NB	G	G																c.256G>C	p.Asp86His	p.D86H	ENST00000293897	1/1	824	672	152	685	685	0	strelka-varscan-mutect	SSTR5,missense_variant,p.Asp86His,ENST00000293897,NM_001172560.1,NM_001053.3;SSTR5-AS1,upstream_gene_variant,,ENST00000569832,;SSTR5-AS1,upstream_gene_variant,,ENST00000566499,;SSTR5-AS1,upstream_gene_variant,,ENST00000624643,;	C	ENST00000293897	Transcript	missense_variant	344/1362	256/1095	86/364	D/H	Gac/Cac	rs771072236	1		1	SSTR5	HGNC	HGNC:11334	protein_coding	YES	CCDS10429.1	ENSP00000293897	P35346		UPI00000015DC	NM_001172560.1,NM_001053.3	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF20,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		rs771072236	.												C	3	2	78	1079124	1079124	G	C	1	0	0	0	0	1	0	0	0	15578	1058	37	4		4	SSTR5	16	1079124	Missense_Mutation	SNP	G	C3N-01415_TP		1079124	89259221	441	25727											
ZNF597	0	.	GRCh38	chr16	3436906	3436906	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagattcgtaggtgttttCagcactgtggcttttctgat	7	17	11	6	1	2	2	1	1	1	1	3	2	2	2	0	2	1	5	0	2	2	7	rs143250831		C3N-01415_TP	C3N-01415_NB	C	C																c.793G>T	p.Glu265Ter	p.E265*	ENST00000301744	4/4	293	275	18	303	303	0	strelka-varscan-mutect	ZNF597,stop_gained,p.Glu265Ter,ENST00000301744,NM_152457.2;LA16c-306E5.2,intron_variant,,ENST00000575785,;	A	ENST00000301744	Transcript	stop_gained	1029/5513	793/1275	265/424	E/*	Gaa/Taa	rs143250831	1		-1	ZNF597	HGNC	HGNC:26573	protein_coding	YES	CCDS10505.1	ENSP00000301744	Q96LX8		UPI0000070B73	NM_152457.2			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF219,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		rs143250831	.												A	4	1	78	3436906	3436906	C	A	1	0	0	0	0	0	1	0	0	18602	835	29	2		2	ZNF597	16	3436906	Nonsense_Mutation	SNP	C	C3N-01415_TP	2357782	3436906	86901439	442	25728											
XYLT1	0	.	GRCh38	chr16	17127759	17127759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctccagagtctctagtttGctcacagccagattggtagc	8	12	10	11	0	3	2	1	0	2	2	5	2	3	2	2	1	3	3	2	1	2	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2130C>A	p.Ser710Arg	p.S710R	ENST00000261381	10/12	505	476	29	391	387	4	strelka-varscan-mutect	XYLT1,missense_variant,p.Ser710Arg,ENST00000261381,NM_022166.3;	T	ENST00000261381	Transcript	missense_variant	2215/9891	2130/2880	710/959	S/R	agC/agA		1		-1	XYLT1	HGNC	HGNC:15516	protein_coding	YES	CCDS10569.1	ENSP00000261381	Q86Y38		UPI000000DCCE	NM_022166.3	tolerated(0.52)		10/12		hmmpanther:PTHR19297:SF91,hmmpanther:PTHR19297,Pfam_domain:PF12529																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	17127759	17127759	G	T	1	0	0	0	0	1	0	0	0	18022	1310	46	2		2	XYLT1	16	17127759	Missense_Mutation	SNP	G	C3N-01415_TP	13690853	17127759	73210586	443	25729											
XYLT1	0	.	GRCh38	chr16	17134693	17134693	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgatttcctgattcaccaCggcttcaaacttgcgggcaa	11	11	8	11	2	2	2	2	2	0	0	3	2	3	2	2	2	2	2	2	2	3	4	rs187270026		C3N-01415_TP	C3N-01415_NB	C	C																c.1807G>T	p.Val603Leu	p.V603L	ENST00000261381	9/12	328	304	24	292	292	0	strelka-varscan-mutect	XYLT1,missense_variant,p.Val603Leu,ENST00000261381,NM_022166.3;CTD-2576D5.4,intron_variant,,ENST00000567344,;	A	ENST00000261381	Transcript	missense_variant	1892/9891	1807/2880	603/959	V/L	Gtg/Ttg	rs187270026	1		-1	XYLT1	HGNC	HGNC:15516	protein_coding	YES	CCDS10569.1	ENSP00000261381	Q86Y38		UPI000000DCCE	NM_022166.3	tolerated(0.28)		9/12		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF91																	MODERATE	1	SNV	1			1										PASS		rs187270026	.												A	3	1	78	17134693	17134693	C	A	1	0	0	0	0	1	0	0	0	18022	536	19	1		1	XYLT1	16	17134693	Missense_Mutation	SNP	C	C3N-01415_TP	6934	17134693	73203652	444	25730											
SMG1	0	.	GRCh38	chr16	18896138	18896138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggtcacattgttaaccCtcagctcttgccccaacgac	8	10	8	15	1	3	0	2	0	1	0	3	1	3	0	3	2	4	3	3	2	2	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.326G>T	p.Arg109Met	p.R109M	ENST00000446231	3/63	366	269	97	341	339	2	strelka-varscan-mutect	SMG1,missense_variant,p.Arg109Met,ENST00000446231,NM_015092.4;SMG1,missense_variant,p.Arg83Met,ENST00000565224,;SMG1,missense_variant,p.Arg83Met,ENST00000532700,;SMG1,5_prime_UTR_variant,,ENST00000569122,;SMG1,intron_variant,,ENST00000565324,;SMG1,intron_variant,,ENST00000561947,;SMG1,intron_variant,,ENST00000330588,;SMG1,downstream_gene_variant,,ENST00000563836,;	A	ENST00000446231	Transcript	missense_variant	739/16115	326/10986	109/3661	R/M	aGg/aTg		1		-1	SMG1	HGNC	HGNC:30045	protein_coding	YES	CCDS45430.1	ENSP00000402515	Q96Q15		UPI00004F8E22	NM_015092.4	deleterious_low_confidence(0)		3/63		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF71																	MODERATE	1	SNV	1			1										PASS		rs1285650069	.												A	3	1	78	18896138	18896138	C	A	1	0	0	0	0	1	0	0	0	15089	681	24	2		2	SMG1	16	18896138	Missense_Mutation	SNP	C	C3N-01415_TP	1761445	18896138	71442207	445	25731											
UMOD	0	.	GRCh38	chr16	20337367	20337367	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaggtcatagtttccagcaAaccggaacatctggacggaa	13	8	10	10	2	2	0	1	0	1	0	3	3	3	3	2	4	3	2	2	4	5	3	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.1763T>G	p.Phe588Cys	p.F588C	ENST00000396134	9/12	481	440	41	382	382	0	strelka-varscan-mutect	UMOD,missense_variant,p.Phe555Cys,ENST00000302509,NM_001008389.2,NM_003361.3;UMOD,missense_variant,p.Phe588Cys,ENST00000396134,NM_001278614.1;UMOD,missense_variant,p.Phe604Cys,ENST00000396138,;UMOD,missense_variant,p.Phe555Cys,ENST00000570689,;UMOD,non_coding_transcript_exon_variant,,ENST00000570331,;	C	ENST00000396134	Transcript	missense_variant	1887/2408	1763/2022	588/673	F/C	tTt/tGt		1		-1	UMOD	HGNC	HGNC:12559	protein_coding	YES	CCDS61876.1	ENSP00000379438	P07911		UPI000059D336	NM_001278614.1	deleterious(0)		9/12		PROSITE_profiles:PS51034,hmmpanther:PTHR24044:SF263,hmmpanther:PTHR24044,Pfam_domain:PF00100,SMART_domains:SM00241																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	78	20337367	20337367	A	C	1	0	0	0	0	1	0	0	0	17503	14	1	5		5	UMOD	16	20337367	Missense_Mutation	SNP	A	C3N-01415_TP	1441229	20337367	70000978	446	25732											
EEF2K	0	.	GRCh38	chr16	22264876	22264876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agacagcctgggcagctctgGacgggtaatgcgccctgagg	8	6	16	11	2	1	2	0	1	1	1	1	3	1	3	2	4	3	3	2	4	1	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1436G>A	p.Gly479Glu	p.G479E	ENST00000263026	13/18	248	225	23	166	166	0	strelka-varscan-mutect	EEF2K,missense_variant,p.Gly479Glu,ENST00000263026,NM_013302.3;EEF2K,3_prime_UTR_variant,,ENST00000568269,;EEF2K,downstream_gene_variant,,ENST00000563555,;	A	ENST00000263026	Transcript	missense_variant	1910/7388	1436/2178	479/725	G/E	gGa/gAa		1		1	EEF2K	HGNC	HGNC:24615	protein_coding	YES	CCDS10604.1	ENSP00000263026	O00418		UPI000013D387	NM_013302.3	tolerated(0.71)		13/18		hmmpanther:PTHR14187,PIRSF_domain:PIRSF038139																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	78	22264876	22264876	G	A	1	0	0	0	0	1	0	0	0	4760	1188	41	3		3	EEF2K	16	22264876	Missense_Mutation	SNP	G	C3N-01415_TP	1927509	22264876	68073469	447	25733											
SCNN1B	0	.	GRCh38	chr16	23355329	23355329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggacccagtgtaccttcCggaacttcaccagtgctacc	10	8	8	15	1	1	0	1	0	0	0	2	2	2	2	5	2	4	2	5	2	3	4	rs756809433		C3N-01415_TP	C3N-01415_NB	C	C																c.616C>T	p.Arg206Trp	p.R206W	ENST00000343070	4/13	850	668	182	632	632	0	strelka-varscan-mutect	SCNN1B,missense_variant,p.Arg206Trp,ENST00000343070,NM_000336.2;SCNN1B,missense_variant,p.Arg251Trp,ENST00000307331,;SCNN1B,missense_variant,p.Arg206Trp,ENST00000568085,;SCNN1B,intron_variant,,ENST00000568923,;SCNN1B,upstream_gene_variant,,ENST00000566441,;SCNN1B,downstream_gene_variant,,ENST00000569789,;SCNN1B,upstream_gene_variant,,ENST00000566647,;SCNN1B,missense_variant,p.Arg206Trp,ENST00000564275,;SCNN1B,downstream_gene_variant,,ENST00000566870,;	T	ENST00000343070	Transcript	missense_variant	792/2597	616/1923	206/640	R/W	Cgg/Tgg	rs756809433	1		1	SCNN1B	HGNC	HGNC:10600	protein_coding	YES	CCDS10609.1	ENSP00000345751	P51168	B2R812	UPI0000135616	NM_000336.2	tolerated(0.12)		4/13		Pfam_domain:PF00858,hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF18,TIGRFAM_domain:TIGR00859																	MODERATE	1	SNV	1			1										PASS		rs756809433	.												T	3	4	78	23355329	23355329	C	T	1	0	0	0	0	1	0	0	0	14197	643	23	1		1	SCNN1B	16	23355329	Missense_Mutation	SNP	C	C3N-01415_TP	1090453	23355329	66983016	448	25734											
PALB2	0	.	GRCh38	chr16	23630090	23630090	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtatgctggctttgcgaGtttggccttttgggatgtga	4	18	14	5	1	0	1	0	1	0	0	0	3	0	2	1	3	2	4	1	3	1	6	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2064C>T	p.=	p.N688N	ENST00000261584	5/13	509	472	37	473	472	1	strelka-varscan-mutect	PALB2,synonymous_variant,p.=,ENST00000261584,NM_024675.3;PALB2,synonymous_variant,p.=,ENST00000568219,;PALB2,intron_variant,,ENST00000565038,;	A	ENST00000261584	Transcript	synonymous_variant	2217/4003	2064/3561	688/1186	N	aaC/aaT		1		-1	PALB2	HGNC	HGNC:26144	protein_coding	YES	CCDS32406.1	ENSP00000261584	Q86YC2		UPI000000DA86	NM_024675.3			5/13		hmmpanther:PTHR14662,hmmpanther:PTHR14662:SF2																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	23630090	23630090	G	A	1	0	0	0	0	0	0	0	1	11485	1020	36	3		3	PALB2	16	23630090	Silent	SNP	G	C3N-01415_TP	274761	23630090	66708255	449	25735											
CD2BP2	0	.	GRCh38	chr16	30353735	30353735	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcattgaggtctggccCaagctgtcctcctcctccga	6	10	9	16	1	2	1	1	1	1	0	6	2	6	1	5	2	1	2	5	2	1	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.441G>C	p.Leu147Phe	p.L147F	ENST00000305596	5/7	189	176	13	159	159	0	strelka-varscan-mutect	CD2BP2,missense_variant,p.Leu147Phe,ENST00000305596,NM_006110.2;CD2BP2,missense_variant,p.Leu147Phe,ENST00000569466,NM_001243646.1;TBC1D10B,downstream_gene_variant,,ENST00000409939,NM_015527.3;TBC1D10B,downstream_gene_variant,,ENST00000490703,;RP11-347C12.10,upstream_gene_variant,,ENST00000563252,;TBC1D10B,downstream_gene_variant,,ENST00000478158,;TBC1D10B,downstream_gene_variant,,ENST00000475650,;CD2BP2,downstream_gene_variant,,ENST00000564525,;	G	ENST00000305596	Transcript	missense_variant	617/3421	441/1026	147/341	L/F	ttG/ttC		1		-1	CD2BP2	HGNC	HGNC:1656	protein_coding	YES	CCDS10675.1	ENSP00000304903	O95400	A0A024QZC1	UPI000006D625	NM_006110.2	tolerated(0.7)		5/7		hmmpanther:PTHR13138,hmmpanther:PTHR13138:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	30353735	30353735	C	G	1	0	0	0	0	1	0	0	0	2699	593	21	4		4	CD2BP2	16	30353735	Missense_Mutation	SNP	C	C3N-01415_TP	6723645	30353735	59984610	450	25736											
ZNF48	0	.	GRCh38	chr16	30398315	30398315	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccgcacccacagtggCgagaggccccatgcctgccc	7	4	10	20	2	0	1	0	0	0	1	1	2	1	1	7	2	2	1	7	2	0	0	rs143156281		C3N-01415_TP	C3N-01415_NB	C	C																c.1065C>T	p.=	p.G355G	ENST00000613509	3/3	343	323	20	267	266	1	strelka-varscan-mutect	ZNF48,synonymous_variant,p.=,ENST00000613509,NM_001214906.1,NM_001214909.1;ZNF48,synonymous_variant,p.=,ENST00000320159,NM_152652.2;ZNF48,synonymous_variant,p.=,ENST00000622647,NM_001214907.1;ZNF48,downstream_gene_variant,,ENST00000524644,;ZNF48,downstream_gene_variant,,ENST00000528032,;ZNF48,downstream_gene_variant,,ENST00000495929,;SEPT1,upstream_gene_variant,,ENST00000570039,;SEPT1,upstream_gene_variant,,ENST00000567783,;	T	ENST00000613509	Transcript	synonymous_variant	1547/3339	1065/1857	355/618	G	ggC/ggT	rs143156281,COSM969829	1		1	ZNF48	HGNC	HGNC:13114	protein_coding	YES	CCDS10679.1	ENSP00000480262	Q96MX3		UPI000013E982	NM_001214906.1,NM_001214909.1			3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF199,Gene3D:3.30.160.60,Superfamily_domains:SSF57667											0,1						LOW	1	SNV	2		0,1	1										PASS		rs143156281	.												T	2	4	78	30398315	30398315	C	T	1	0	0	0	0	0	0	0	1	18506	755	27	1		1	ZNF48	16	30398315	Silent	SNP	C	C3N-01415_TP	44580	30398315	59940030	451	25737											
ZNF423	0	.	GRCh38	chr16	49525374	49525374	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccttacctgtgaaacacAcggggcatttgaaggtgccg	10	9	12	10	2	0	2	0	2	0	0	0	2	0	2	3	3	4	2	3	3	4	3	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.3698T>A	p.Val1233Glu	p.V1233E	ENST00000561648	7/9	147	125	22	132	132	0	strelka-varscan-mutect	ZNF423,missense_variant,p.Val1233Glu,ENST00000561648,;ZNF423,missense_variant,p.Val1173Glu,ENST00000563137,;ZNF423,missense_variant,p.Val1233Glu,ENST00000262383,NM_015069.3;ZNF423,missense_variant,p.Val1173Glu,ENST00000562871,;ZNF423,missense_variant,p.Val1116Glu,ENST00000535559,;ZNF423,missense_variant,p.Val1173Glu,ENST00000562520,NM_001271620.1;ZNF423,missense_variant,p.Val1116Glu,ENST00000567169,;	T	ENST00000561648	Transcript	missense_variant	3999/7907	3698/3855	1233/1284	V/E	gTg/gAg		1		-1	ZNF423	HGNC	HGNC:16762	protein_coding	YES	CCDS32445.1	ENSP00000455426	Q2M1K9		UPI0000353ABC		deleterious(0)		7/9		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	78	49525374	49525374	A	T	1	0	0	0	0	1	0	0	0	18470	159	6	4		4	ZNF423	16	49525374	Missense_Mutation	SNP	A	C3N-01415_TP	19127059	49525374	40812971	452	25738											
DDX19B	0	.	GRCh38	chr16	70317505	70317505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttttctaggaaaccacaGcttctccaaggagtctatgc	10	13	8	10	0	3	0	0	0	3	0	4	2	3	2	2	2	3	2	2	2	4	5	rs143996882		C3N-01415_TP	C3N-01415_NB	G	G																c.306G>T	p.Gln102His	p.Q102H	ENST00000288071	5/12	161	101	60	215	215	0	strelka-varscan-mutect	DDX19B,missense_variant,p.Gln102His,ENST00000288071,NM_007242.5;DDX19B,missense_variant,p.Gln107His,ENST00000563206,;RP11-529K1.3,missense_variant,p.Gln102His,ENST00000567706,;DDX19B,missense_variant,p.Gln89His,ENST00000566216,;DDX19B,5_prime_UTR_variant,,ENST00000563392,NM_001257174.1;DDX19B,5_prime_UTR_variant,,ENST00000393657,NM_001257175.1,NM_001014449.2;DDX19B,5_prime_UTR_variant,,ENST00000568625,NM_001257173.1;RP11-529K1.3,intron_variant,,ENST00000443119,;DDX19B,intron_variant,,ENST00000355992,NM_001014451.2;DDX19B,intron_variant,,ENST00000451014,NM_001257172.1;RP11-529K1.2,intron_variant,,ENST00000562077,;DDX19B,non_coding_transcript_exon_variant,,ENST00000570055,;DDX19B,non_coding_transcript_exon_variant,,ENST00000569099,;DDX19B,3_prime_UTR_variant,,ENST00000568460,;DDX19B,3_prime_UTR_variant,,ENST00000562912,;DDX19B,non_coding_transcript_exon_variant,,ENST00000569224,;DDX19B,intron_variant,,ENST00000562519,;DDX19B,intron_variant,,ENST00000568408,;DDX19B,intron_variant,,ENST00000568008,;RP11-529K1.3,intron_variant,,ENST00000565116,;	T	ENST00000288071	Transcript	missense_variant	551/3386	306/1440	102/479	Q/H	caG/caT	rs143996882	1		1	DDX19B	HGNC	HGNC:2742	protein_coding	YES	CCDS10888.1	ENSP00000288071	Q9UMR2	A0A0U4B4U6	UPI000012907F	NM_007242.5	deleterious(0)		5/12		Gene3D:3.40.50.300,PROSITE_profiles:PS51195,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF323																	MODERATE	1	SNV	1			1										PASS		rs143996882	.												T	3	4	78	70317505	70317505	G	T	1	0	0	0	0	1	0	0	0	4150	962	34	2		2	DDX19B	16	70317505	Missense_Mutation	SNP	G	C3N-01415_TP	20792131	70317505	20020840	453	25739											
CDH13	0	.	GRCh38	chr16	82627083	82627083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgccgccgggcgcttctaGtcggacaaaatgcagccgag	10	5	13	13	6	1	0	0	0	1	0	2	2	1	1	3	2	3	2	3	2	4	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.26G>A	p.Ser9Asn	p.S9N	ENST00000268613	1/15	525	463	62	543	543	0	strelka-varscan-mutect	CDH13,missense_variant,p.Ser9Asn,ENST00000268613,NM_001220488.1;CDH13,5_prime_UTR_variant,,ENST00000567109,NM_001220490.1,NM_001257.4;CDH13,5_prime_UTR_variant,,ENST00000428848,NM_001220489.1;CDH13,5_prime_UTR_variant,,ENST00000567445,;CDH13,5_prime_UTR_variant,,ENST00000431540,NM_001220491.1;CDH13,5_prime_UTR_variant,,ENST00000565636,NM_001220492.1;CDH13,non_coding_transcript_exon_variant,,ENST00000569455,;CDH13,5_prime_UTR_variant,,ENST00000539548,;CDH13,5_prime_UTR_variant,,ENST00000568770,;CDH13,5_prime_UTR_variant,,ENST00000569144,;CDH13,5_prime_UTR_variant,,ENST00000562601,;CDH13,non_coding_transcript_exon_variant,,ENST00000566333,;	A	ENST00000268613	Transcript	missense_variant	119/2722	26/2283	9/760	S/N	aGt/aAt		1		1	CDH13	HGNC	HGNC:1753	protein_coding	YES	CCDS58485.1	ENSP00000268613	P55290		UPI00020E71A6	NM_001220488.1	deleterious_low_confidence(0)		1/15																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	78	82627083	82627083	G	A	1	0	0	0	0	1	0	0	0	2802	1029	36	3		3	CDH13	16	82627083	Missense_Mutation	SNP	G	C3N-01415_TP	12309578	82627083	7711262	454	25740											
IRF8	0	.	GRCh38	chr16	85914475	85914475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtttctcctgcaggcGtgccgctggtgacggggtac	3	13	14	11	3	2	1	0	1	2	0	3	1	2	1	2	4	3	4	2	4	1	3	rs767204633		C3N-01415_TP	C3N-01415_NB	G	G																c.556G>T	p.Val186Leu	p.V186L	ENST00000268638	6/9	531	482	49	535	535	0	strelka-varscan-mutect	IRF8,missense_variant,p.Val186Leu,ENST00000268638,NM_002163.2;IRF8,missense_variant,p.Val186Leu,ENST00000564803,;IRF8,splice_region_variant,,ENST00000562492,;IRF8,splice_region_variant,,ENST00000569145,;IRF8,5_prime_UTR_variant,,ENST00000569607,;IRF8,intron_variant,,ENST00000566369,;IRF8,downstream_gene_variant,,ENST00000563180,;IRF8,downstream_gene_variant,,ENST00000564617,;MIR6774,upstream_gene_variant,,ENST00000614651,;IRF8,downstream_gene_variant,,ENST00000564056,;	T	ENST00000268638	Transcript	missense_variant,splice_region_variant	978/3030	556/1281	186/426	V/L	Gtg/Ttg	rs767204633	1		1	IRF8	HGNC	HGNC:5358	protein_coding	YES	CCDS10956.1	ENSP00000268638	Q02556		UPI000012D188	NM_002163.2	tolerated(1)		6/9		hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF7																	MODERATE	1	SNV	1			1										PASS		rs767204633	.												T	3	4	78	85914475	85914475	G	T	1	0	0	0	0	1	0	0	0	7743	1159	40	1		1	IRF8	16	85914475	Missense_Mutation	SNP	G	C3N-01415_TP	3287392	85914475	4423870	455	25741											
ZNF469	0	.	GRCh38	chr16	88428182	88428182	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccgactcctggcctcccGctgctgagaatagcttccca	6	8	11	16	2	0	1	0	1	0	1	3	3	3	1	5	2	2	3	5	2	2	2	rs748253495		C3N-01415_TP	C3N-01415_NB	G	G																c.712G>C	p.Ala238Pro	p.A238P	ENST00000437464	1/2	506	457	49	547	547	0	strelka-varscan-mutect	ZNF469,missense_variant,p.Ala238Pro,ENST00000565624,;ZNF469,missense_variant,p.Ala238Pro,ENST00000437464,NM_001127464.2;	C	ENST00000437464	Transcript	missense_variant	712/13203	712/11778	238/3925	A/P	Gct/Cct	rs748253495	1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2	tolerated(0.14)		1/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	MODERATE	1	SNV	5			1										PASS		rs748253495	.												C	3	2	78	88428182	88428182	G	C	1	0	0	0	0	1	0	0	0	18500	1087	38	4		4	ZNF469	16	88428182	Missense_Mutation	SNP	G	C3N-01415_TP	2513707	88428182	1910163	456	25742											
ZNF276	0	.	GRCh38	chr16	89734015	89734015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgaccgctacctgcagcGccacgtgaagctcatccaca	10	6	9	16	4	1	1	1	1	0	0	3	3	2	1	4	0	4	3	4	0	2	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1451G>A	p.Arg484His	p.R484H	ENST00000443381	9/11	188	124	64	185	185	0	strelka-varscan-mutect	ZNF276,missense_variant,p.Arg409His,ENST00000289816,NM_152287.3;ZNF276,missense_variant,p.Arg484His,ENST00000443381,NM_001113525.1;ZNF276,missense_variant,p.Arg392His,ENST00000568064,;FANCA,downstream_gene_variant,,ENST00000389301,NM_000135.2;FANCA,downstream_gene_variant,,ENST00000568369,NM_001286167.1;FANCA,downstream_gene_variant,,ENST00000564475,;FANCA,downstream_gene_variant,,ENST00000567879,;FANCA,downstream_gene_variant,,ENST00000561722,;FANCA,downstream_gene_variant,,ENST00000564870,;ZNF276,3_prime_UTR_variant,,ENST00000568295,;ZNF276,3_prime_UTR_variant,,ENST00000562530,;ZNF276,non_coding_transcript_exon_variant,,ENST00000563983,;ZNF276,non_coding_transcript_exon_variant,,ENST00000564004,;ZNF276,non_coding_transcript_exon_variant,,ENST00000561536,;ZNF276,non_coding_transcript_exon_variant,,ENST00000569582,;FANCA,downstream_gene_variant,,ENST00000562424,;ZNF276,downstream_gene_variant,,ENST00000563541,;ZNF276,upstream_gene_variant,,ENST00000569901,;ZNF276,downstream_gene_variant,,ENST00000569426,;	A	ENST00000443381	Transcript	missense_variant	1548/2267	1451/1845	484/614	R/H	cGc/cAc		1		1	ZNF276	HGNC	HGNC:23330	protein_coding	YES	CCDS45554.1	ENSP00000415836	Q8N554		UPI0000EE7D9C	NM_001113525.1	deleterious(0)		9/11		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF56,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1395828475	.												A	3	1	78	89734015	89734015	G	A	1	0	0	0	0	1	0	0	0	18387	1087	38	1		1	ZNF276	16	89734015	Missense_Mutation	SNP	G	C3N-01415_TP	1305833	89734015	604330	457	25743											
SLC43A2	0	.	GRCh38	chr17	1591604	1591604	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccccgggaagggctcaagGggccagttaaagaagcagtt	11	5	16	9	1	1	1	1	0	0	1	1	2	1	2	3	5	1	4	3	5	5	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.690C>T	p.=	p.P230P	ENST00000571650	7/15	196	175	21	286	286	0	strelka-varscan-mutect	SLC43A2,synonymous_variant,p.=,ENST00000301335,NM_001321364.1,NM_001321365.1,NM_152346.2;SLC43A2,synonymous_variant,p.=,ENST00000571650,NM_001284498.1;SLC43A2,synonymous_variant,p.=,ENST00000412517,NM_001284499.1;SLC43A2,non_coding_transcript_exon_variant,,ENST00000574274,;SLC43A2,3_prime_UTR_variant,,ENST00000572801,;SLC43A2,3_prime_UTR_variant,,ENST00000576721,;SLC43A2,non_coding_transcript_exon_variant,,ENST00000572135,;SLC43A2,non_coding_transcript_exon_variant,,ENST00000574743,;SLC43A2,downstream_gene_variant,,ENST00000571376,;	A	ENST00000571650	Transcript	synonymous_variant	997/3261	690/1722	230/573	P	ccC/ccT		1		-1	SLC43A2	HGNC	HGNC:23087	protein_coding	YES	CCDS67108.1	ENSP00000461382	Q8N370		UPI00004EAF8C	NM_001284498.1			7/15		hmmpanther:PTHR20766,hmmpanther:PTHR20766:SF2,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		rs1180235106	.												A	2	1	78	1591604	1591604	G	A	1	0	0	0	0	0	0	0	1	14911	1219	43	3		3	SLC43A2	17	1591604	Silent	SNP	G	C3N-01415_TP		1591604	81665837	458	25744											
WSCD1	0	.	GRCh38	chr17	6120496	6120496	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcggctgctctgcgtggaGaacaacaaggagggcagctt	10	6	16	9	2	1	1	0	0	1	1	1	4	1	2	0	4	6	4	0	4	3	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1563G>A	p.=	p.E521E	ENST00000574946	9/9	356	307	49	396	395	1	strelka-varscan-mutect	WSCD1,synonymous_variant,p.=,ENST00000574946,;WSCD1,synonymous_variant,p.=,ENST00000317744,NM_015253.1;WSCD1,synonymous_variant,p.=,ENST00000539421,;WSCD1,synonymous_variant,p.=,ENST00000574232,;WSCD1,synonymous_variant,p.=,ENST00000573634,;WSCD1,3_prime_UTR_variant,,ENST00000571494,;	A	ENST00000574946	Transcript	synonymous_variant	1953/5884	1563/1728	521/575	E	gaG/gaA		1		1	WSCD1	HGNC	HGNC:29060	protein_coding	YES	CCDS32538.1	ENSP00000460825	Q658N2		UPI0000197208				9/9		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF90,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	LOW	1	SNV	2			1										PASS		rs747881273	.												A	2	1	78	6120496	6120496	G	A	1	0	0	0	0	0	0	0	1	17963	933	33	3		3	WSCD1	17	6120496	Silent	SNP	G	C3N-01415_TP	4528892	6120496	77136945	459	25745											
TP53	0	.	GRCh38	chr17	7674220	7674220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		C3N-01415_TP	C3N-01415_NB	C	C																c.743G>T	p.Arg248Leu	p.R248L	ENST00000269305	7/11	280	241	39	365	365	0	strelka-varscan-mutect	TP53,missense_variant,p.Arg248Leu,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Arg248Leu,ENST00000420246,;TP53,missense_variant,p.Arg209Leu,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Arg209Leu,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg248Leu,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Arg209Leu,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Arg248Leu,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Arg209Leu,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Arg248Leu,ENST00000445888,;TP53,missense_variant,p.Arg209Leu,ENST00000619485,;TP53,missense_variant,p.Arg116Leu,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Arg89Leu,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Arg116Leu,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Arg89Leu,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Arg116Leu,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Arg89Leu,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Arg248Leu,ENST00000359597,;TP53,missense_variant,p.Arg237Leu,ENST00000615910,;TP53,missense_variant,p.Arg248Leu,ENST00000413465,;TP53,missense_variant,p.Arg116Leu,ENST00000509690,;TP53,missense_variant,p.Arg155Leu,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Arg209Leu,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	933/2579	743/1182	248/393	R/L	cGg/cTg	rs11540652,CM920675,TP53_g.13380G>A,TP53_g.13380G>C,TP53_g.13380G>T,TP53_g.13380del,COSM10662,COSM11491,COSM1640830,COSM1646857,COSM1646858,COSM241994,COSM241995,COSM241996,COSM3356964,COSM3378346,COSM340105,COSM340106,COSM340107,COSM3726799,COSM46135,COSM6549,COSM99020,COSM99021,COSM99602	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										pathogenic	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	2.50327002037787e+47					MODERATE	1	SNV	1		1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs11540652	.												A	3	1	78	7674220	7674220	C	A	1	0	0	0	0	1	0	0	0	16859	652	23	1		1	TP53	17	7674220	Missense_Mutation	SNP	C	C3N-01415_TP	1553724	7674220	75583221	460	25746											
KCNJ18	0	.	GRCh38	chr17	21703355	21703355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggcaaggcccaagaagcGggcacagacgctgctgttca	11	5	14	11	2	1	2	1	0	0	2	1	3	1	2	1	3	2	5	1	3	3	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.569G>T	p.Arg190Leu	p.R190L	ENST00000567955	3/3	104	94	10	112	112	0	varscan-mutect	KCNJ18,missense_variant,p.Arg190Leu,ENST00000567955,NM_001194958.2;	T	ENST00000567955	Transcript	missense_variant	939/2196	569/1302	190/433	R/L	cGg/cTg		1		1	KCNJ18	HGNC	HGNC:39080	protein_coding	YES	CCDS74015.1	ENSP00000457807	B7U540		UPI0002064ECF	NM_001194958.2	deleterious(0)		3/3		Gene3D:2.60.40.1400,Pfam_domain:PF01007,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		rs1259420942	.												T	3	4	78	21703355	21703355	G	T	1	0	0	0	0	1	0	0	0	7967	1116	39	1		1	KCNJ18	17	21703355	Missense_Mutation	SNP	G	C3N-01415_TP	14029135	21703355	61554086	461	25747											
PSMB3	0	.	GRCh38	chr17	38755937	38755937	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagttgaaggaaggtcggcaGatcaaaccttataccctcat	13	9	10	9	1	2	2	2	1	0	1	3	4	2	3	2	3	2	2	2	3	5	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.243G>C	p.Gln81His	p.Q81H	ENST00000619426	3/6	338	300	38	279	279	0	strelka-varscan-mutect	PSMB3,missense_variant,p.Gln81His,ENST00000619426,NM_002795.3;PSMB3,missense_variant,p.Gln78His,ENST00000610434,;RNU6-866P,upstream_gene_variant,,ENST00000613402,;CTB-58E17.5,downstream_gene_variant,,ENST00000610658,;PSMB3,missense_variant,p.Gln81His,ENST00000613870,;PSMB3,missense_variant,p.Gln81His,ENST00000620309,;PSMB3,upstream_gene_variant,,ENST00000614132,;	C	ENST00000619426	Transcript	missense_variant	334/773	243/618	81/205	Q/H	caG/caC		1		1	PSMB3	HGNC	HGNC:9540	protein_coding	YES	CCDS11328.1	ENSP00000483688	P49720		UPI00001325B3	NM_002795.3	tolerated(0.1)		3/6		PROSITE_profiles:PS51476,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF62,Pfam_domain:PF00227,Gene3D:3.60.20.10,Superfamily_domains:SSF56235																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	38755937	38755937	G	C	1	0	0	0	0	1	0	0	0	12829	933	33	4		4	PSMB3	17	38755937	Missense_Mutation	SNP	G	C3N-01415_TP	17052582	38755937	44501504	462	25748											
KRTAP4-8	0	.	GRCh38	chr17	41098058	41098058	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagccttggtcagagcaCacggagccacaacaggagtt	12	5	11	13	1	1	1	1	0	0	1	1	3	1	3	3	3	4	2	3	3	1	2			C3N-01415_TP	C3N-01415_NB	C	C																c.27G>C	p.=	p.V9V	ENST00000333822	1/1	132	101	31	183	183	0	strelka-varscan-mutect	KRTAP4-8,synonymous_variant,p.=,ENST00000333822,NM_031960.2;KRTAP4-8,synonymous_variant,p.=,ENST00000318329,;KRTAP4-7,intron_variant,,ENST00000612231,;KRTAP4-16,downstream_gene_variant,,ENST00000440582,;	G	ENST00000333822	Transcript	synonymous_variant	84/1161	27/558	9/185	V	gtG/gtC	COSM4919081	1		-1	KRTAP4-8	HGNC	HGNC:17230	protein_coding	YES	CCDS45674.1	ENSP00000328444	Q9BYQ9		UPI0000366BFD	NM_031960.2			1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF67											1						LOW	1	SNV			1	1										PASS		.	.												G	2	3	78	41098058	41098058	C	G	1	0	0	0	0	0	0	0	1	8451	465	17	4		4	KRTAP4-8	17	41098058	Silent	SNP	C	C3N-01415_TP	2342121	41098058	42159383	463	25749											
DHX58	0	.	GRCh38	chr17	42111814	42111814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcccgggtcttcccggcacCcgtgggcagccagatgatga	6	6	14	15	4	1	3	0	2	1	1	2	3	2	3	4	3	1	2	4	3	0	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.79G>T	p.Gly27Cys	p.G27C	ENST00000251642	3/14	154	128	26	169	169	0	strelka-varscan-mutect	DHX58,missense_variant,p.Gly27Cys,ENST00000251642,NM_024119.2;DHX58,missense_variant,p.Gly27Cys,ENST00000413196,;DHX58,missense_variant,p.Gly27Cys,ENST00000430773,;DHX58,intron_variant,,ENST00000591220,;KAT2A,downstream_gene_variant,,ENST00000225916,NM_021078.2;DHX58,non_coding_transcript_exon_variant,,ENST00000586522,;KAT2A,downstream_gene_variant,,ENST00000465682,;KAT2A,downstream_gene_variant,,ENST00000586972,;DHX58,upstream_gene_variant,,ENST00000590637,;KAT2A,downstream_gene_variant,,ENST00000592310,;KAT2A,downstream_gene_variant,,ENST00000588759,;	A	ENST00000251642	Transcript	missense_variant	302/2617	79/2037	27/678	G/C	Ggt/Tgt		1		-1	DHX58	HGNC	HGNC:29517	protein_coding	YES	CCDS11416.1	ENSP00000251642	Q96C10	A0A024R1Y5	UPI000006ED88	NM_024119.2	deleterious(0)		3/14		PROSITE_profiles:PS51192,hmmpanther:PTHR14074,hmmpanther:PTHR14074:SF7,Pfam_domain:PF04851,Gene3D:3.40.50.300,SMART_domains:SM00487																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	42111814	42111814	C	A	1	0	0	0	0	1	0	0	0	4318	623	22	2		2	DHX58	17	42111814	Missense_Mutation	SNP	C	C3N-01415_TP	1013756	42111814	41145627	464	25750											
STAT5B	0	.	GRCh38	chr17	42212096	42212096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctccttggtcaggcccCggttgctctgcacttcggcc	2	12	12	15	2	3	0	1	0	2	0	5	0	3	0	4	5	2	4	4	5	0	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1568G>T	p.Arg523Leu	p.R523L	ENST00000293328	13/19	657	551	106	706	705	1	strelka-varscan-mutect	STAT5B,missense_variant,p.Arg523Leu,ENST00000293328,NM_012448.3;STAT5B,non_coding_transcript_exon_variant,,ENST00000481517,;STAT5B,non_coding_transcript_exon_variant,,ENST00000468496,;STAT5B,upstream_gene_variant,,ENST00000481253,;	A	ENST00000293328	Transcript	missense_variant	1737/5103	1568/2364	523/787	R/L	cGg/cTg		1		-1	STAT5B	HGNC	HGNC:11367	protein_coding	YES	CCDS11423.1	ENSP00000293328	P51692		UPI000006F059	NM_012448.3	tolerated(0.07)		13/19		Gene3D:1.10.238.10,Pfam_domain:PF02864,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF39,Superfamily_domains:SSF49417																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	42212096	42212096	C	A	1	0	0	0	0	1	0	0	0	15645	652	23	1		1	STAT5B	17	42212096	Missense_Mutation	SNP	C	C3N-01415_TP	100282	42212096	41045345	465	25751											
RUNDC3A	0	.	GRCh38	chr17	44316449	44316449	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggagctcactacacccCtggtcaatcaatggccctca	11	7	7	16	0	4	0	4	0	0	0	4	1	4	1	4	3	2	1	4	3	4	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1018C>T	p.=	p.L340L	ENST00000426726	9/11	218	173	45	164	164	0	strelka-varscan-mutect	RUNDC3A,synonymous_variant,p.=,ENST00000426726,NM_001144825.1;RUNDC3A,synonymous_variant,p.=,ENST00000225441,NM_006695.4;RUNDC3A,synonymous_variant,p.=,ENST00000590941,NM_001144826.1;RUNDC3A,synonymous_variant,p.=,ENST00000612735,;SLC25A39,downstream_gene_variant,,ENST00000225308,NM_001321241.1,NM_016016.2;SLC25A39,downstream_gene_variant,,ENST00000377095,NM_001143780.1;SLC25A39,downstream_gene_variant,,ENST00000590194,;SLC25A39,downstream_gene_variant,,ENST00000537904,;SLC25A39,downstream_gene_variant,,ENST00000586016,;SLC25A39,downstream_gene_variant,,ENST00000588049,;SLC25A39,downstream_gene_variant,,ENST00000588767,;RUNDC3A-AS1,upstream_gene_variant,,ENST00000588097,;RUNDC3A,non_coding_transcript_exon_variant,,ENST00000587483,;RUNDC3A,non_coding_transcript_exon_variant,,ENST00000590834,;SLC25A39,downstream_gene_variant,,ENST00000591006,;SLC25A39,downstream_gene_variant,,ENST00000588315,;SLC25A39,downstream_gene_variant,,ENST00000585695,;SLC25A39,downstream_gene_variant,,ENST00000592372,;SLC25A39,downstream_gene_variant,,ENST00000593166,;RUNDC3A,upstream_gene_variant,,ENST00000588564,;RUNDC3A,downstream_gene_variant,,ENST00000593079,;	T	ENST00000426726	Transcript	synonymous_variant	1292/2048	1018/1341	340/446	L	Ctg/Ttg		1		1	RUNDC3A	HGNC	HGNC:16984	protein_coding	YES	CCDS45698.1	ENSP00000410862	Q59EK9		UPI0000EE7B82	NM_001144825.1			9/11		hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF38																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	44316449	44316449	C	T	1	0	0	0	0	0	0	0	1	14005	680	24	3		3	RUNDC3A	17	44316449	Silent	SNP	C	C3N-01415_TP	2104353	44316449	38940992	466	25752											
PLEKHM1	0	.	GRCh38	chr17	45453952	45453952	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactgcacgttcacccactCatcctcctgctgaggccgga	7	9	9	16	2	2	1	2	1	0	0	4	2	4	2	4	2	3	4	4	2	1	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1900G>T	p.Glu634Ter	p.E634*	ENST00000430334	7/12	382	274	108	359	359	0	strelka-varscan-mutect	PLEKHM1,stop_gained,p.Glu634Ter,ENST00000430334,NM_014798.2;AC091132.1,intron_variant,,ENST00000433601,;PLEKHM1,non_coding_transcript_exon_variant,,ENST00000580205,;PLEKHM1,3_prime_UTR_variant,,ENST00000579197,;PLEKHM1,3_prime_UTR_variant,,ENST00000581448,;PLEKHM1,3_prime_UTR_variant,,ENST00000446609,;PLEKHM1,non_coding_transcript_exon_variant,,ENST00000582035,;	A	ENST00000430334	Transcript	stop_gained	2034/5263	1900/3171	634/1056	E/*	Gag/Tag		1		-1	PLEKHM1	HGNC	HGNC:29017	protein_coding	YES	CCDS32671.1	ENSP00000389913	Q9Y4G2		UPI00001C1FC4	NM_014798.2			7/12		hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF5,Superfamily_domains:SSF50729																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	78	45453952	45453952	C	A	1	0	0	0	0	0	1	0	0	12173	835	29	2		2	PLEKHM1	17	45453952	Nonsense_Mutation	SNP	C	C3N-01415_TP	1137503	45453952	37803489	467	25753											
WNT9B	0	.	GRCh38	chr17	46872682	46872682	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagaccctgagggatgcTgcgcacctcggcctgcttga	6	8	14	13	2	0	3	0	3	0	1	1	5	0	4	3	2	3	4	3	2	0	1	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.243T>A	p.=	p.A81A	ENST00000290015	2/4	192	170	22	191	191	0	strelka-varscan-mutect	WNT9B,synonymous_variant,p.=,ENST00000393461,NM_001320458.1;WNT9B,synonymous_variant,p.=,ENST00000290015,NM_003396.1;WNT9B,synonymous_variant,p.=,ENST00000575372,;	A	ENST00000290015	Transcript	synonymous_variant	296/1376	243/1074	81/357	A	gcT/gcA		1		1	WNT9B	HGNC	HGNC:12779	protein_coding	YES	CCDS11506.1	ENSP00000290015	O14905		UPI000013DFB5	NM_003396.1			2/4		Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF84,SMART_domains:SM00097																	LOW	1	SNV	1			1										PASS		rs1040778099	.												A	2	1	78	46872682	46872682	T	A	1	0	0	0	0	0	0	0	1	17955	1567	55	4		4	WNT9B	17	46872682	Silent	SNP	T	C3N-01415_TP	1418730	46872682	36384759	468	25754											
LUC7L3	0	.	GRCh38	chr17	50746545	50746545	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttttaaattattaagaagTagagatcgacgaagaagcag	17	10	11	3	2	0	3	0	0	0	3	1	6	0	3	0	1	1	3	0	1	8	5	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.981T>G	p.Ser327Arg	p.S327R	ENST00000505658	9/10	159	141	18	155	155	0	strelka-varscan-mutect	LUC7L3,missense_variant,p.Ser327Arg,ENST00000505658,NM_016424.4;LUC7L3,missense_variant,p.Ser327Arg,ENST00000393227,;LUC7L3,missense_variant,p.Ser327Arg,ENST00000240304,NM_006107.3;LUC7L3,upstream_gene_variant,,ENST00000503728,;LUC7L3,downstream_gene_variant,,ENST00000505619,;LUC7L3,downstream_gene_variant,,ENST00000513025,;LUC7L3,upstream_gene_variant,,ENST00000511974,;LUC7L3,upstream_gene_variant,,ENST00000513969,;LUC7L3,upstream_gene_variant,,ENST00000503798,;LUC7L3,upstream_gene_variant,,ENST00000512549,;LUC7L3,missense_variant,p.Ser147Arg,ENST00000504065,;LUC7L3,missense_variant,p.Ser34Arg,ENST00000509487,;LUC7L3,3_prime_UTR_variant,,ENST00000508482,;LUC7L3,downstream_gene_variant,,ENST00000508045,;LUC7L3,downstream_gene_variant,,ENST00000504563,;LUC7L3,downstream_gene_variant,,ENST00000507503,;LUC7L3,downstream_gene_variant,,ENST00000507200,;LUC7L3,downstream_gene_variant,,ENST00000511068,;	G	ENST00000505658	Transcript	missense_variant	1170/7040	981/1299	327/432	S/R	agT/agG		1		1	LUC7L3	HGNC	HGNC:24309	protein_coding	YES	CCDS11573.1	ENSP00000425092	O95232		UPI00000736F2	NM_016424.4	deleterious(0.05)		9/10		hmmpanther:PTHR12375,hmmpanther:PTHR12375:SF18,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	50746545	50746545	T	G	1	0	0	0	0	1	0	0	0	8991	1652	57	5		5	LUC7L3	17	50746545	Missense_Mutation	SNP	T	C3N-01415_TP	3873863	50746545	32510896	469	25755											
INTS2	0	.	GRCh38	chr17	61875039	61875039	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccgtcattacccatagcCtgataagaaaataatcacat	17	10	4	10	1	2	2	2	1	0	1	2	2	2	2	3	0	3	0	3	0	7	5	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.2481-1G>T		p.X827_splice	ENST00000444766		127	93	34	122	122	0	strelka-varscan-mutect	INTS2,splice_acceptor_variant,,ENST00000444766,NM_020748.2;INTS2,splice_acceptor_variant,,ENST00000617492,;INTS2,splice_acceptor_variant,,ENST00000251334,;Y_RNA,upstream_gene_variant,,ENST00000365491,;INTS2,splice_acceptor_variant,,ENST00000583822,;INTS2,downstream_gene_variant,,ENST00000584967,;	A	ENST00000444766	Transcript	splice_acceptor_variant	-/5878	2481/3615	827/1204				1		-1	INTS2	HGNC	HGNC:29241	protein_coding	YES	CCDS45750.1	ENSP00000414237	Q9H0H0		UPI0000E5A03A	NM_020748.2				18/24																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	78	61875039	61875039	C	A	1	0	0	0	0	0	0	1	0	7680	695	24	2		2	INTS2	17	61875039	Splice_Site	SNP	C	C3N-01415_TP	11128494	61875039	21382402	470	25756											
ABCA6	0	.	GRCh38	chr17	69081114	69081114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagggtaaacgtctgccaCgggcagcttataggttaaca	12	9	12	8	2	1	1	0	0	1	1	1	1	1	1	1	3	4	4	1	3	6	5	rs148075714		C3N-01415_TP	C3N-01415_NB	C	C																c.4648G>T	p.Val1550Leu	p.V1550L	ENST00000284425	37/39	207	185	22	209	209	0	strelka-varscan-mutect	ABCA6,missense_variant,p.Val1550Leu,ENST00000284425,NM_080284.2;ABCA6,non_coding_transcript_exon_variant,,ENST00000446604,;ABCA6,downstream_gene_variant,,ENST00000589482,;	A	ENST00000284425	Transcript	missense_variant	4823/5300	4648/4854	1550/1617	V/L	Gtg/Ttg	rs148075714	1		-1	ABCA6	HGNC	HGNC:36	protein_coding	YES	CCDS11683.1	ENSP00000284425	Q8N139		UPI000013DD9D	NM_080284.2	tolerated(0.29)		37/39		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF13																	MODERATE	1	SNV	1			1										PASS		rs148075714	.												A	3	1	78	69081114	69081114	C	A	1	0	0	0	0	1	0	0	0	40	536	19	1		1	ABCA6	17	69081114	Missense_Mutation	SNP	C	C3N-01415_TP	7206075	69081114	14176327	471	25757											
ABCA6	0	.	GRCh38	chr17	69083242	69083242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaccatgatggccacaCggtcacacaaggcttccgcc	11	5	9	16	2	1	2	1	1	0	1	2	2	2	2	4	3	0	1	4	3	1	1	rs200105664		C3N-01415_TP	C3N-01415_NB	C	C																c.4445G>T	p.Arg1482Leu	p.R1482L	ENST00000284425	35/39	100	73	27	124	124	0	strelka-varscan-mutect	ABCA6,missense_variant,p.Arg1482Leu,ENST00000284425,NM_080284.2;ABCA6,non_coding_transcript_exon_variant,,ENST00000446604,;ABCA6,downstream_gene_variant,,ENST00000589482,;	A	ENST00000284425	Transcript	missense_variant	4620/5300	4445/4854	1482/1617	R/L	cGt/cTt	rs200105664	1		-1	ABCA6	HGNC	HGNC:36	protein_coding	YES	CCDS11683.1	ENSP00000284425	Q8N139		UPI000013DD9D	NM_080284.2	deleterious(0.01)		35/39		Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF13,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1470401286	.												A	3	1	78	69083242	69083242	C	A	1	0	0	0	0	1	0	0	0	40	536	19	1		1	ABCA6	17	69083242	Missense_Mutation	SNP	C	C3N-01415_TP	2128	69083242	14174199	472	25758											
DNAI2	0	.	GRCh38	chr17	74299806	74299806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgtgtatggcaccatctgGctgcagtcgaagacgggcac	8	8	13	12	2	1	1	0	0	1	1	2	2	1	1	2	3	1	5	2	3	2	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.813G>T	p.Trp271Cys	p.W271C	ENST00000446837	6/13	514	433	81	441	440	1	strelka-varscan-mutect	DNAI2,missense_variant,p.Trp328Cys,ENST00000579490,;DNAI2,missense_variant,p.Trp271Cys,ENST00000446837,;DNAI2,missense_variant,p.Trp271Cys,ENST00000582036,NM_001172810.1;DNAI2,missense_variant,p.Trp271Cys,ENST00000311014,NM_023036.4;DNAI2,3_prime_UTR_variant,,ENST00000579055,;	T	ENST00000446837	Transcript	missense_variant	1119/2474	813/1818	271/605	W/C	tgG/tgT		1		1	DNAI2	HGNC	HGNC:18744	protein_coding	YES	CCDS11697.1	ENSP00000400252	Q9GZS0		UPI000013EC1D		deleterious(0)		6/13		PROSITE_profiles:PS50294,hmmpanther:PTHR12442:SF7,hmmpanther:PTHR12442,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	74299806	74299806	G	T	1	0	0	0	0	1	0	0	0	4425	1212	42	2		2	DNAI2	17	74299806	Missense_Mutation	SNP	G	C3N-01415_TP	5216564	74299806	8957635	473	25759											
EVPL	0	.	GRCh38	chr17	76018478	76018478	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagcatcagggtctggTgctgggatgcagaagcaggc	9	6	16	10	0	2	1	1	0	1	1	2	2	2	2	1	4	4	4	1	4	1	0	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.1407A>T	p.=	p.A469A	ENST00000301607	12/22	286	205	81	226	226	0	strelka-varscan-mutect	EVPL,synonymous_variant,p.=,ENST00000301607,NM_001988.2;EVPL,synonymous_variant,p.=,ENST00000586740,NM_001320747.1;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;	A	ENST00000301607	Transcript	synonymous_variant	1661/6614	1407/6102	469/2033	A	gcA/gcT		1		-1	EVPL	HGNC	HGNC:3503	protein_coding	YES	CCDS11737.1	ENSP00000301607	Q92817		UPI000013E730	NM_001988.2			12/22		hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	76018478	76018478	T	A	1	0	0	0	0	0	0	0	1	5159	1683	59	4		4	EVPL	17	76018478	Silent	SNP	T	C3N-01415_TP	1718672	76018478	7238963	474	25760											
CARD14	0	.	GRCh38	chr17	80201839	80201839	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaggagggtggacggcttCtgctgcctgtctgtgaaggt	5	11	16	9	1	3	1	1	1	2	0	3	3	3	3	1	5	2	2	1	5	1	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1947C>T	p.=	p.F649F	ENST00000573882	16/23	199	168	31	156	156	0	strelka-varscan-mutect	CARD14,synonymous_variant,p.=,ENST00000573882,;CARD14,synonymous_variant,p.=,ENST00000344227,NM_024110.4;CARD14,synonymous_variant,p.=,ENST00000570421,NM_001257970.1;RP11-334C17.5,non_coding_transcript_exon_variant,,ENST00000570309,;RP11-334C17.5,non_coding_transcript_exon_variant,,ENST00000576824,;RP11-334C17.5,non_coding_transcript_exon_variant,,ENST00000573346,;RP11-334C17.5,non_coding_transcript_exon_variant,,ENST00000573935,;RP11-334C17.5,downstream_gene_variant,,ENST00000572730,;CARD14,downstream_gene_variant,,ENST00000573754,;SGSH,downstream_gene_variant,,ENST00000575484,;CARD14,downstream_gene_variant,,ENST00000574148,;CARD14,3_prime_UTR_variant,,ENST00000575500,;CARD14,intron_variant,,ENST00000571450,;CARD14,downstream_gene_variant,,ENST00000575666,;	T	ENST00000573882	Transcript	synonymous_variant	2483/4537	1947/3015	649/1004	F	ttC/ttT		1		1	CARD14	HGNC	HGNC:16446	protein_coding	YES	CCDS11768.1	ENSP00000458715	Q9BXL6		UPI000013D81B				16/23		PROSITE_profiles:PS50106,hmmpanther:PTHR14559:SF1,hmmpanther:PTHR14559,Gene3D:2.30.42.10,Superfamily_domains:SSF50156																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	78	80201839	80201839	C	T	1	0	0	0	0	0	0	0	1	2341	912	32	3		3	CARD14	17	80201839	Silent	SNP	C	C3N-01415_TP	4183361	80201839	3055602	475	25761											
BAHCC1	0	.	GRCh38	chr17	81447149	81447149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcaaaccaccgccccggggGcccagcctgagcccacaagg	9	2	12	18	2	0	1	0	1	0	0	0	1	0	1	7	3	4	1	7	3	2	0			C3N-01415_TP	C3N-01415_NB	G	G																c.3370G>T	p.Ala1124Ser	p.A1124S	ENST00000584436	12/29	169	118	51	161	161	0	strelka-varscan-mutect	BAHCC1,missense_variant,p.Ala1124Ser,ENST00000584436,NM_001291324.1;BAHCC1,missense_variant,p.Ala1093Ser,ENST00000307745,;MIR3186,downstream_gene_variant,,ENST00000577404,;BAHCC1,downstream_gene_variant,,ENST00000585224,;	T	ENST00000584436	Transcript	missense_variant	3737/10801	3370/7920	1124/2639	A/S	Gcc/Tcc	COSM4912807	1		1	BAHCC1	HGNC	HGNC:29279	protein_coding	YES	CCDS74173.1	ENSP00000462154		A0A075B747	UPI0003EAE637	NM_001291324.1	tolerated(0.07)		12/29		hmmpanther:PTHR12505:SF22,hmmpanther:PTHR12505											1						MODERATE	1	SNV	5		1	1										PASS		rs1363829397	.												T	3	4	78	81447149	81447149	G	T	1	0	0	0	0	1	0	0	0	1451	1203	42	2		2	BAHCC1	17	81447149	Missense_Mutation	SNP	G	C3N-01415_TP	1245310	81447149	1810292	476	25762											
ZNF519	0	.	GRCh38	chr18	14105210	14105210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtcgagtaaggtgtgagcCcctgttaaaggctttgccac	9	11	12	9	1	0	1	0	1	0	0	1	2	0	1	3	2	2	3	3	2	3	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1330G>T	p.Gly444Cys	p.G444C	ENST00000590202	3/3	116	102	14	192	192	0	strelka-varscan-mutect	ZNF519,missense_variant,p.Gly444Cys,ENST00000590202,NM_145287.3;ZNF519,intron_variant,,ENST00000589498,;RP11-411B10.3,non_coding_transcript_exon_variant,,ENST00000592926,;ZNF519,intron_variant,,ENST00000589203,;ZNF519,intron_variant,,ENST00000591393,;ZNF519,intron_variant,,ENST00000592345,;ZNF519,intron_variant,,ENST00000592411,;ZNF519,intron_variant,,ENST00000592049,;ZNF519,downstream_gene_variant,,ENST00000588435,;ZNF519,non_coding_transcript_exon_variant,,ENST00000624133,;ZNF519,intron_variant,,ENST00000587419,;	A	ENST00000590202	Transcript	missense_variant	1483/2830	1330/1623	444/540	G/C	Ggc/Tgc		1		-1	ZNF519	HGNC	HGNC:30574	protein_coding	YES	CCDS32797.1	ENSP00000464872	Q8TB69		UPI0000201A41	NM_145287.3	tolerated(0.14)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF97,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	14105210	14105210	C	A	1	0	0	0	0	1	0	0	0	18536	623	22	2		2	ZNF519	18	14105210	Missense_Mutation	SNP	C	C3N-01415_TP		14105210	66268075	477	25763											
IMPACT	0	.	GRCh38	chr18	24437982	24437982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcggtgaaagtattctttaCctgtgggtggagaaaataag	13	12	12	4	1	1	2	0	1	1	1	2	3	1	2	1	3	1	1	1	3	6	5	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.309C>T	p.=	p.Y103Y	ENST00000284202	5/11	220	192	28	281	281	0	strelka-varscan-mutect	IMPACT,synonymous_variant,p.=,ENST00000284202,NM_018439.3;IMPACT,synonymous_variant,p.=,ENST00000585067,;IMPACT,synonymous_variant,p.=,ENST00000578221,;RP11-178F10.1,intron_variant,,ENST00000579049,;IMPACT,non_coding_transcript_exon_variant,,ENST00000580706,;	T	ENST00000284202	Transcript	synonymous_variant	450/3792	309/963	103/320	Y	taC/taT		1		1	IMPACT	HGNC	HGNC:20387	protein_coding	YES	CCDS11886.1	ENSP00000284202	Q9P2X3		UPI000007006B	NM_018439.3			5/11		Gene3D:3.10.110.10,Pfam_domain:PF05773,PROSITE_profiles:PS50908,hmmpanther:PTHR16301,hmmpanther:PTHR16301:SF6,SMART_domains:SM00591,Superfamily_domains:SSF54495																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	24437982	24437982	C	T	1	0	0	0	0	0	0	0	1	7626	518	18	3		3	IMPACT	18	24437982	Silent	SNP	C	C3N-01415_TP	10332772	24437982	55935303	478	25764											
DTNA	0	.	GRCh38	chr18	34858341	34858341	+	Missense_Mutation	SNP	C	C	A																															gcatgaacaagcttctcagcCcacgccagagaaggcacagc																								novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1328C>A	p.Pro443His	p.P443H	ENST00000598334	14/20	579	522	57	528	526	2	strelka-varscan-mutect	DTNA,missense_variant,p.Pro446His,ENST00000283365,NM_032975.3;DTNA,missense_variant,p.Pro443His,ENST00000399121,NM_001198939.1;DTNA,missense_variant,p.Pro503His,ENST00000444659,NM_001390.4;DTNA,missense_variant,p.Pro443His,ENST00000595022,NM_001198940.1;DTNA,missense_variant,p.Pro500His,ENST00000348997,NM_032978.6,NM_001391.5;DTNA,missense_variant,p.Pro443His,ENST00000598334,NM_001198938.1;DTNA,missense_variant,p.Pro446His,ENST00000598142,;DTNA,missense_variant,p.Pro446His,ENST00000598774,NM_032979.4;DTNA,missense_variant,p.Pro503His,ENST00000399113,;DTNA,missense_variant,p.Pro212His,ENST00000269192,NM_001198942.1;DTNA,missense_variant,p.Pro125His,ENST00000601125,NM_001198943.1;DTNA,missense_variant,p.Pro443His,ENST00000597599,NM_001198941.1;DTNA,missense_variant,p.Pro151His,ENST00000591182,NM_032980.3;DTNA,missense_variant,p.Pro125His,ENST00000597674,NM_032981.4;DTNA,missense_variant,p.Pro155His,ENST00000556414,NM_001198944.1;DTNA,missense_variant,p.Pro253His,ENST00000596745,NM_001198945.1;DTNA,missense_variant,p.Pro125His,ENST00000599844,;DTNA,missense_variant,p.Pro102His,ENST00000587723,;DTNA,downstream_gene_variant,,ENST00000601632,;DTNA,downstream_gene_variant,,ENST00000601895,;	A	ENST00000598334	Transcript	missense_variant	1654/3201	1328/2175	443/724	P/H	cCc/cAc		1		1	DTNA	HGNC	HGNC:3057	protein_coding	YES	CCDS59312.1	ENSP00000470152	Q9Y4J8		UPI0001E92A2F	NM_001198938.1	deleterious(0.03)		14/20		hmmpanther:PTHR11915:SF209,hmmpanther:PTHR11915,PIRSF_domain:PIRSF038204																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	34858341	34858341	C	A	1	0	0	0	0	1	0	0	0	4611	623	22	2		2	DTNA	18	34858341	Missense_Mutation	SNP	C	C3N-01415_TP	10420359	34858341	45514944	479	25765	548	2									
DTNA	0	.	GRCh38	chr18	34858342	34858342	+	Silent	SNP	C	C	A																															catgaacaagcttctcagccCacgccagagaaggcacagca																								novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1329C>A	p.=	p.P443P	ENST00000598334	14/20	585	525	60	520	519	1	strelka-varscan-mutect	DTNA,synonymous_variant,p.=,ENST00000283365,NM_032975.3;DTNA,synonymous_variant,p.=,ENST00000399121,NM_001198939.1;DTNA,synonymous_variant,p.=,ENST00000444659,NM_001390.4;DTNA,synonymous_variant,p.=,ENST00000595022,NM_001198940.1;DTNA,synonymous_variant,p.=,ENST00000348997,NM_032978.6,NM_001391.5;DTNA,synonymous_variant,p.=,ENST00000598334,NM_001198938.1;DTNA,synonymous_variant,p.=,ENST00000598142,;DTNA,synonymous_variant,p.=,ENST00000598774,NM_032979.4;DTNA,synonymous_variant,p.=,ENST00000399113,;DTNA,synonymous_variant,p.=,ENST00000269192,NM_001198942.1;DTNA,synonymous_variant,p.=,ENST00000601125,NM_001198943.1;DTNA,synonymous_variant,p.=,ENST00000597599,NM_001198941.1;DTNA,synonymous_variant,p.=,ENST00000591182,NM_032980.3;DTNA,synonymous_variant,p.=,ENST00000597674,NM_032981.4;DTNA,synonymous_variant,p.=,ENST00000556414,NM_001198944.1;DTNA,synonymous_variant,p.=,ENST00000596745,NM_001198945.1;DTNA,synonymous_variant,p.=,ENST00000599844,;DTNA,synonymous_variant,p.=,ENST00000587723,;DTNA,downstream_gene_variant,,ENST00000601632,;DTNA,downstream_gene_variant,,ENST00000601895,;	A	ENST00000598334	Transcript	synonymous_variant	1655/3201	1329/2175	443/724	P	ccC/ccA		1		1	DTNA	HGNC	HGNC:3057	protein_coding	YES	CCDS59312.1	ENSP00000470152	Q9Y4J8		UPI0001E92A2F	NM_001198938.1			14/20		hmmpanther:PTHR11915:SF209,hmmpanther:PTHR11915,PIRSF_domain:PIRSF038204																	LOW	1	SNV	1			1										PASS		rs1473376313	.												A	2	1	78	34858342	34858342	C	A	1	0	0	0	0	0	0	0	1	4611	581	21	2		2	DTNA	18	34858342	Silent	SNP	C	C3N-01415_TP	1	34858342	45514943	480	25766	548	2									
SETBP1	0	.	GRCh38	chr18	44952638	44952638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagttccacacaaactccCacgtaaagatgtccggtgca	12	8	7	14	2	1	1	1	0	0	1	4	1	4	1	3	1	2	3	3	1	3	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.3298C>A	p.His1100Asn	p.H1100N	ENST00000282030	4/6	132	104	28	214	213	1	strelka-varscan-mutect	SETBP1,missense_variant,p.His1100Asn,ENST00000282030,NM_015559.2;	A	ENST00000282030	Transcript	missense_variant	3594/9899	3298/4791	1100/1596	H/N	Cac/Aac		1		1	SETBP1	HGNC	HGNC:15573	protein_coding	YES	CCDS11923.2	ENSP00000282030	Q9Y6X0		UPI0000201C54	NM_015559.2	deleterious(0)		4/6		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF342																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	44952638	44952638	C	A	1	0	0	0	0	1	0	0	0	14406	594	21	2		2	SETBP1	18	44952638	Missense_Mutation	SNP	C	C3N-01415_TP	10094296	44952638	35420647	481	25767											
SMAD4	0	.	GRCh38	chr18	51054904	51054904	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaatcgtgcatcgacagAgacatacagcaccccagctc	14	6	8	13	2	0	1	0	0	0	1	3	3	0	1	2	0	4	4	2	0	3	2	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.578A>T	p.Glu193Val	p.E193V	ENST00000342988	5/12	363	311	52	629	626	3	strelka-varscan-mutect	SMAD4,missense_variant,p.Glu193Val,ENST00000342988,NM_005359.5;SMAD4,missense_variant,p.Glu193Val,ENST00000398417,;SMAD4,missense_variant,p.Glu193Val,ENST00000588745,;SMAD4,non_coding_transcript_exon_variant,,ENST00000592911,;SMAD4,missense_variant,p.Glu193Val,ENST00000592186,;RP11-729L2.2,3_prime_UTR_variant,,ENST00000590722,;SMAD4,non_coding_transcript_exon_variant,,ENST00000591126,;SMAD4,non_coding_transcript_exon_variant,,ENST00000585448,;SMAD4,upstream_gene_variant,,ENST00000611848,;	T	ENST00000342988	Transcript	missense_variant	1116/8769	578/1659	193/552	E/V	gAg/gTg		1		1	SMAD4	HGNC	HGNC:6770	protein_coding	YES	CCDS11950.1	ENSP00000341551	Q13485	A0A024R274	UPI0000053431	NM_005359.5	tolerated(0.28)		5/12																			MODERATE		SNV	5			1										PASS		.	.												T	3	4	78	51054904	51054904	A	T	1	0	0	0	0	1	0	0	0	15053	304	11	4		4	SMAD4	18	51054904	Missense_Mutation	SNP	A	C3N-01415_TP	6102266	51054904	29318381	482	25768											
SERPINB11	0	.	GRCh38	chr18	63723272	63723272	+	Missense_Mutation	SNP	G	G	T																															ggaggcagcagcagccactgGggacagcatcgctgtaaaaa																								rs757652662		C3N-01415_TP	C3N-01415_NB	G	G																c.791G>T	p.Gly264Val	p.G264V	ENST00000623262	5/5	205	188	17	306	306	0	strelka-varscan-mutect	SERPINB11,missense_variant,p.Gly351Val,ENST00000382749,NM_080475.3;SERPINB11,missense_variant,p.Gly351Val,ENST00000544088,;SERPINB11,missense_variant,p.Gly264Val,ENST00000623262,NM_001291278.1;SERPINB11,missense_variant,p.Gly149Val,ENST00000624518,;SERPINB11,downstream_gene_variant,,ENST00000489748,;SERPINB11,intron_variant,,ENST00000467649,;SERPINB11,3_prime_UTR_variant,,ENST00000536691,;SERPINB11,downstream_gene_variant,,ENST00000610304,;	T	ENST00000623262	Transcript	missense_variant	791/918	791/918	264/305	G/V	gGg/gTg	rs757652662	1		1	SERPINB11	HGNC	HGNC:14221	protein_coding	YES	CCDS77196.1	ENSP00000485532		A0A096LPD5	UPI0003EAEE70	NM_001291278.1	deleterious(0.03)		5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR11461:SF199,hmmpanther:PTHR11461,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		rs757652662	.												T	3	4	78	63723272	63723272	G	T	1	0	0	0	0	1	0	0	0	14374	1232	43	2		2	SERPINB11	18	63723272	Missense_Mutation	SNP	G	C3N-01415_TP	12668368	63723272	16650013	483	25769	549	2									
SERPINB11	0	.	GRCh38	chr18	63723273	63723273	+	Silent	SNP	G	G	T																															gaggcagcagcagccactggGgacagcatcgctgtaaaaag																										C3N-01415_TP	C3N-01415_NB	G	G																c.792G>T	p.=	p.G264G	ENST00000623262	5/5	206	189	17	305	303	2	strelka-varscan-mutect	SERPINB11,synonymous_variant,p.=,ENST00000382749,NM_080475.3;SERPINB11,synonymous_variant,p.=,ENST00000544088,;SERPINB11,synonymous_variant,p.=,ENST00000623262,NM_001291278.1;SERPINB11,synonymous_variant,p.=,ENST00000624518,;SERPINB11,downstream_gene_variant,,ENST00000489748,;SERPINB11,intron_variant,,ENST00000467649,;SERPINB11,3_prime_UTR_variant,,ENST00000536691,;SERPINB11,downstream_gene_variant,,ENST00000610304,;	T	ENST00000623262	Transcript	synonymous_variant	792/918	792/918	264/305	G	ggG/ggT	COSM3527088,COSM3527089	1		1	SERPINB11	HGNC	HGNC:14221	protein_coding	YES	CCDS77196.1	ENSP00000485532		A0A096LPD5	UPI0003EAEE70	NM_001291278.1			5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR11461:SF199,hmmpanther:PTHR11461,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	78	63723273	63723273	G	T	1	0	0	0	0	0	0	0	1	14374	1219	43	2		2	SERPINB11	18	63723273	Silent	SNP	G	C3N-01415_TP	1	63723273	16650012	484	25770	549	2									
ZNF236	0	.	GRCh38	chr18	76881432	76881432	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccacagacgcagagcAagaaaaagaacaggaaagcc	19	0	11	11	1	0	4	0	0	0	4	0	6	0	6	3	2	3	2	3	2	5	0	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.1337A>T	p.Gln446Leu	p.Q446L	ENST00000320610	9/31	299	262	37	457	457	0	strelka-varscan-mutect	ZNF236,missense_variant,p.Gln444Leu,ENST00000253159,NM_007345.3;ZNF236,missense_variant,p.Gln446Leu,ENST00000320610,NM_001306089.1;ZNF236,missense_variant,p.Gln444Leu,ENST00000579322,;ZNF236,missense_variant,p.Gln444Leu,ENST00000543926,;ZNF236,non_coding_transcript_exon_variant,,ENST00000583488,;RP11-162A12.3,downstream_gene_variant,,ENST00000583058,;	T	ENST00000320610	Transcript	missense_variant	1338/7124	1337/5544	446/1847	Q/L	cAa/cTa		1		1	ZNF236	HGNC	HGNC:13028	protein_coding	YES	CCDS77201.1	ENSP00000322361		J9JID5	UPI000268B415	NM_001306089.1	tolerated(0.34)		9/31		hmmpanther:PTHR24396:SF21,hmmpanther:PTHR24396																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	76881432	76881432	A	T	1	0	0	0	0	1	0	0	0	18366	130	5	4		4	ZNF236	18	76881432	Missense_Mutation	SNP	A	C3N-01415_TP	13158159	76881432	3491853	485	25771											
GALR1	0	.	GRCh38	chr18	77268772	77268772	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcatttatgcatttctctCtgaaaatttcaggaaggcct	11	16	6	8	0	4	1	2	1	2	0	5	2	4	2	1	2	1	1	1	2	5	5	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.920C>A	p.Ser307Tyr	p.S307Y	ENST00000299727	3/3	353	288	65	517	516	1	strelka-varscan-mutect	GALR1,missense_variant,p.Ser307Tyr,ENST00000299727,NM_001480.3;	A	ENST00000299727	Transcript	missense_variant	920/10044	920/1050	307/349	S/Y	tCt/tAt		1		1	GALR1	HGNC	HGNC:4132	protein_coding	YES	CCDS12012.1	ENSP00000299727	P47211		UPI000013E5DE	NM_001480.3	deleterious(0)		3/3		Transmembrane_helices:TMhelix,hmmpanther:PTHR24230:SF31,hmmpanther:PTHR24230,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	1			1										PASS		rs1485699296	.												A	3	1	78	77268772	77268772	C	A	1	0	0	0	0	1	0	0	0	6095	913	32	2		2	GALR1	18	77268772	Missense_Mutation	SNP	C	C3N-01415_TP	387340	77268772	3104513	486	25772											
ADNP2	0	.	GRCh38	chr18	80136362	80136362	+	Frame_Shift_Del	DEL	G	G	-																															ctgtggcccagggtgcccctGgaagcctcactcattccccc																										C3N-01415_TP	C3N-01415_NB	G	G																c.950delG	p.Gly317GlufsTer15	p.G317Efs*15	ENST00000262198	4/4	109	96	13	166	166	0	sindel-varindel-pindel	ADNP2,frameshift_variant,p.Gly317GlufsTer15,ENST00000262198,NM_014913.3;ADNP2,intron_variant,,ENST00000561195,;ADNP2,downstream_gene_variant,,ENST00000560752,;ADNP2,downstream_gene_variant,,ENST00000559951,;ADNP2,downstream_gene_variant,,ENST00000560561,;	-	ENST00000262198	Transcript	frameshift_variant	1404/5393	949/3396	317/1131	G/X	Gga/ga	COSM564347	1		1	ADNP2	HGNC	HGNC:23803	protein_coding	YES	CCDS32853.1	ENSP00000262198	Q6IQ32	A0A024R377	UPI0000071DEA	NM_014913.3			4/4		hmmpanther:PTHR15740											1						HIGH	1	deletion	1	1	1	1										PASS		.	.												-	7	5	78	80136362	80136362	G	-	1	0	1	0	1	0	0	0	0	399	1349	47	0		0	ADNP2	18	80136362	Frame_Shift_Del	DEL	G	C3N-01415_TP	2867590	80136362	236923	487	25773											
CACTIN	0	.	GRCh38	chr19	3623773	3623773	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatgtactcctcaccccagCccatcttctcccgcttcttg	5	12	4	20	1	4	0	1	0	3	0	6	0	5	0	6	0	2	2	6	0	1	4			C3N-01415_TP	C3N-01415_NB	C	C																c.557G>C	p.Gly186Ala	p.G186A	ENST00000429344	2/10	399	337	62	298	298	0	strelka-varscan-mutect	CACTIN,missense_variant,p.Gly186Ala,ENST00000429344,NM_001080543.1;CACTIN,missense_variant,p.Gly186Ala,ENST00000221899,;CACTIN,missense_variant,p.Gly186Ala,ENST00000248420,NM_021231.1;CACTIN,upstream_gene_variant,,ENST00000588749,;CACTIN,missense_variant,p.Gly186Ala,ENST00000585942,;CACTIN,upstream_gene_variant,,ENST00000587175,;CACTIN,upstream_gene_variant,,ENST00000589321,;	G	ENST00000429344	Transcript	missense_variant	610/3612	557/2277	186/758	G/A	gGc/gCc	COSM4921949,COSM4921950	1		-1	CACTIN	HGNC	HGNC:29938	protein_coding	YES	CCDS45920.1	ENSP00000415078	Q8WUQ7		UPI00006C1962	NM_001080543.1	deleterious(0.04)		2/10		hmmpanther:PTHR21737,hmmpanther:PTHR21737:SF6											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												G	3	3	78	3623773	3623773	C	G	1	0	0	0	0	1	0	0	0	2252	739	26	4		4	CACTIN	19	3623773	Missense_Mutation	SNP	C	C3N-01415_TP		3623773	54993843	488	25774											
DAPK3	0	.	GRCh38	chr19	3964934	3964934	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcttgatgaacttggcTgcgtactccttgcccgtgcc	4	13	10	14	3	1	2	0	2	1	0	2	2	2	2	3	1	5	3	3	1	2	5	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.120A>T	p.=	p.A40A	ENST00000545797	3/9	204	170	34	192	192	0	strelka-varscan-mutect	DAPK3,synonymous_variant,p.=,ENST00000545797,NM_001348.2;DAPK3,synonymous_variant,p.=,ENST00000301264,;DAPK3,synonymous_variant,p.=,ENST00000596311,;DAPK3,synonymous_variant,p.=,ENST00000593844,;DAPK3,synonymous_variant,p.=,ENST00000601824,;DAPK3,upstream_gene_variant,,ENST00000594894,;DAPK3,upstream_gene_variant,,ENST00000385000,;DAPK3,upstream_gene_variant,,ENST00000595279,;	A	ENST00000545797	Transcript	synonymous_variant	364/2257	120/1365	40/454	A	gcA/gcT		1		-1	DAPK3	HGNC	HGNC:2676	protein_coding	YES	CCDS12116.1	ENSP00000442973	O43293		UPI000006F7FA	NM_001348.2			3/9		PROSITE_profiles:PS50011,hmmpanther:PTHR24347,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	78	3964934	3964934	T	A	1	0	0	0	0	0	0	0	1	4038	1567	55	4		4	DAPK3	19	3964934	Silent	SNP	T	C3N-01415_TP	341161	3964934	54652682	489	25775											
ZNRF4	0	.	GRCh38	chr19	5455635	5455635	+	Frame_Shift_Del	DEL	C	C	-																															cctgggagaccccggagatgCccaaaggcctcatgcctgcc																								rs376298220		C3N-01415_TP	C3N-01415_NB	C	C																c.146delC	p.Pro49GlnfsTer21	p.P49Qfs*21	ENST00000222033	1/1	210	177	33	240	240	0	sindel-varindel-pindel	ZNRF4,frameshift_variant,p.Pro49GlnfsTer21,ENST00000222033,NM_181710.3;	-	ENST00000222033	Transcript	frameshift_variant	205/1426	144/1290	48/429	C/X	tgC/tg	rs376298220	1		1	ZNRF4	HGNC	HGNC:17726	protein_coding	YES	CCDS42475.1	ENSP00000222033	Q8WWF5		UPI0000366CF5	NM_181710.3			1/1		hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF49																	HIGH	1	deletion		2		1										PASS		.	.												-	7	5	78	5455635	5455635	C	-	1	0	1	0	1	0	0	0	0	18806	747	26	0		0	ZNRF4	19	5455635	Frame_Shift_Del	DEL	C	C3N-01415_TP	1490701	5455635	53161981	490	25776											
C3	0	.	GRCh38	chr19	6686818	6686818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccagagcatagccagCaatggccacagtgtaggatc	11	6	13	11	0	0	1	0	0	0	1	1	2	0	2	3	3	3	3	3	3	3	2	rs375011405		C3N-01415_TP	C3N-01415_NB	C	C																c.3574G>T	p.Ala1192Ser	p.A1192S	ENST00000245907	28/41	519	438	81	495	495	0	strelka-varscan-mutect	C3,missense_variant,p.Ala1192Ser,ENST00000245907,NM_000064.3;C3,missense_variant,p.Ala57Ser,ENST00000601008,;C3,upstream_gene_variant,,ENST00000596548,;C3,non_coding_transcript_exon_variant,,ENST00000598805,;C3,upstream_gene_variant,,ENST00000599899,;C3,upstream_gene_variant,,ENST00000596238,;C3,upstream_gene_variant,,ENST00000596179,;	A	ENST00000245907	Transcript	missense_variant	3667/5263	3574/4992	1192/1663	A/S	Gct/Tct	rs375011405	1		-1	C3	HGNC	HGNC:1318	protein_coding	YES	CCDS32883.1	ENSP00000245907	P01024	V9HWA9	UPI000013EC9B	NM_000064.3	tolerated(0.09)		28/41		hmmpanther:PTHR11412:SF90,hmmpanther:PTHR11412,Gene3D:1.50.10.20,Pfam_domain:PF07678,Superfamily_domains:SSF48239																	MODERATE	1	SNV	1			1										PASS		rs375011405	.												A	3	1	78	6686818	6686818	C	A	1	0	0	0	0	1	0	0	0	2057	710	25	2		2	C3	19	6686818	Missense_Mutation	SNP	C	C3N-01415_TP	1231183	6686818	51930798	491	25777											
ADGRE1	0	.	GRCh38	chr19	6916352	6916352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgggtgttccacaattgaGgaatctgaatccacaggtac	12	10	10	9	1	1	2	0	2	1	0	4	3	3	3	2	3	1	2	2	3	4	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1404G>C	p.Glu468Asp	p.E468D	ENST00000312053	12/21	117	111	6	157	157	0	strelka-varscan-mutect	ADGRE1,missense_variant,p.Glu468Asp,ENST00000312053,NM_001974.4;ADGRE1,missense_variant,p.Glu416Asp,ENST00000381404,NM_001256252.1;ADGRE1,missense_variant,p.Glu468Asp,ENST00000250572,NM_001256253.1;ADGRE1,missense_variant,p.Glu327Asp,ENST00000381407,NM_001256254.1;ADGRE1,missense_variant,p.Glu291Asp,ENST00000450315,NM_001256255.1;ADGRE1,downstream_gene_variant,,ENST00000595026,;	C	ENST00000312053	Transcript	missense_variant	1441/3128	1404/2661	468/886	E/D	gaG/gaC		1		1	ADGRE1	HGNC	HGNC:3336	protein_coding	YES	CCDS12175.1	ENSP00000311545	Q14246		UPI0000203241	NM_001974.4	tolerated(0.14)		12/21		Low_complexity_(Seg):seg,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF303																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	6916352	6916352	G	C	1	0	0	0	0	1	0	0	0	359	991	35	4		4	ADGRE1	19	6916352	Missense_Mutation	SNP	G	C3N-01415_TP	229534	6916352	51701264	492	25778											
INSR	0	.	GRCh38	chr19	7184584	7184584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgcccaggcactcgctgtGgcaacagaggccttcggcgg	6	7	15	13	3	0	1	0	0	0	1	2	1	0	1	2	5	2	4	2	5	1	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.706C>T	p.His236Tyr	p.H236Y	ENST00000302850	3/22	169	151	18	234	234	0	strelka-varscan-mutect	INSR,missense_variant,p.His236Tyr,ENST00000341500,NM_001079817.1;INSR,missense_variant,p.His236Tyr,ENST00000302850,NM_000208.2;INSR,non_coding_transcript_exon_variant,,ENST00000598216,;	A	ENST00000302850	Transcript	missense_variant	849/4721	706/4149	236/1382	H/Y	Cac/Tac		1		-1	INSR	HGNC	HGNC:6091	protein_coding	YES	CCDS12176.1	ENSP00000303830	P06213		UPI000020324D	NM_000208.2	deleterious(0.02)		3/22		Gene3D:3.80.20.20,Pfam_domain:PF00757,PIRSF_domain:PIRSF000620,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF325,SMART_domains:SM00261,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	7184584	7184584	G	A	1	0	0	0	0	1	0	0	0	7675	1348	47	3		3	INSR	19	7184584	Missense_Mutation	SNP	G	C3N-01415_TP	268232	7184584	51433032	493	25779											
MYO1F	0	.	GRCh38	chr19	8554692	8554692	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctcacggtcggtgaagtAgggcatctgcttgaaggggt	8	10	16	7	2	2	2	1	2	2	0	4	3	2	2	0	5	1	3	0	5	3	2	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.193T>A	p.Tyr65Asn	p.Y65N	ENST00000338257	3/28	523	479	44	524	524	0	strelka-varscan-mutect	MYO1F,missense_variant,p.Tyr65Asn,ENST00000338257,NM_012335.3;MYO1F,missense_variant,p.Tyr65Asn,ENST00000613525,;MYO1F,missense_variant,p.Tyr61Asn,ENST00000596675,;AC092316.1,downstream_gene_variant,,ENST00000598703,;MYO1F,missense_variant,p.Leu72Gln,ENST00000598321,;MYO1F,non_coding_transcript_exon_variant,,ENST00000594977,;MYO1F,non_coding_transcript_exon_variant,,ENST00000595325,;MYO1F,non_coding_transcript_exon_variant,,ENST00000594774,;MYO1F,non_coding_transcript_exon_variant,,ENST00000599123,;MYO1F,upstream_gene_variant,,ENST00000595191,;MYO1F,upstream_gene_variant,,ENST00000598529,;MYO1F,downstream_gene_variant,,ENST00000596645,;MYO1F,upstream_gene_variant,,ENST00000600825,;MYO1F,upstream_gene_variant,,ENST00000596937,;	T	ENST00000338257	Transcript	missense_variant	461/4303	193/3297	65/1098	Y/N	Tac/Aac		1		-1	MYO1F	HGNC	HGNC:7600	protein_coding	YES	CCDS42494.1	ENSP00000344871	O00160		UPI00001678F0	NM_012335.3	tolerated(0.06)		3/28		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF288,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	8554692	8554692	A	T	1	0	0	0	0	1	0	0	0	10074	420	15	4		4	MYO1F	19	8554692	Missense_Mutation	SNP	A	C3N-01415_TP	1370108	8554692	50062924	494	25780											
ACTL9	0	.	GRCh38	chr19	8698158	8698158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggcgtagacagacagcaCcgactgcgatgccacgtaca	11	5	13	12	4	0	2	0	0	0	2	0	4	0	2	2	1	4	3	2	1	2	2	rs781941982		C3N-01415_TP	C3N-01415_NB	C	C																c.544G>T	p.Val182Leu	p.V182L	ENST00000324436	1/1	152	130	22	158	158	0	strelka-varscan-mutect	ACTL9,missense_variant,p.Val182Leu,ENST00000324436,NM_178525.4;ACTL9,missense_variant,p.Val182Leu,ENST00000612068,;AC093230.2,upstream_gene_variant,,ENST00000623340,;	A	ENST00000324436	Transcript	missense_variant	665/1426	544/1251	182/416	V/L	Gtg/Ttg	rs781941982,COSM1751283	1		-1	ACTL9	HGNC	HGNC:28494	protein_coding	YES	CCDS12207.1	ENSP00000316674	Q8TC94		UPI000000DB15	NM_178525.4	tolerated(0.14)		1/1		hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF194,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067											0,1						MODERATE	1	SNV			0,1	1										PASS		rs781941982	.												A	3	1	78	8698158	8698158	C	A	1	0	0	0	0	1	0	0	0	247	507	18	2		2	ACTL9	19	8698158	Missense_Mutation	SNP	C	C3N-01415_TP	143466	8698158	49919458	495	25781											
MUC16	0	.	GRCh38	chr19	8901827	8901827	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcagccagagtacagaagGccgacactggtgttcttgaa	11	8	12	10	1	1	3	0	1	1	2	1	4	1	3	2	2	3	3	2	2	3	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.38703C>A	p.=	p.G12901G	ENST00000397910	35/84	280	233	47	325	325	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	synonymous_variant	38907/43816	38703/43524	12901/14507	G	ggC/ggA		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			35/84		PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Gene3D:1ivzA00,Pfam_domain:PF01390,SMART_domains:SM00200,Superfamily_domains:0047452																	LOW	1	SNV	5			1										PASS		rs922032342	.												T	2	4	78	8901827	8901827	G	T	1	0	0	0	0	0	0	0	1	9972	1190	42	2		2	MUC16	19	8901827	Silent	SNP	G	C3N-01415_TP	203669	8901827	49715789	496	25782											
EPOR	0	.	GRCh38	chr19	11381119	11381119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagccgccgaagctcggctCagccatacgcgcgcggacgg	8	3	15	15	8	1	0	1	0	0	0	2	3	1	1	3	3	4	2	3	3	3	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.676G>A	p.Glu226Lys	p.E226K	ENST00000222139	5/8	318	290	28	360	360	0	strelka-varscan-mutect	EPOR,missense_variant,p.Glu226Lys,ENST00000222139,NM_000121.3;EPOR,missense_variant,p.Glu226Lys,ENST00000592375,;SWSAP1,downstream_gene_variant,,ENST00000312423,NM_175871.3;EPOR,3_prime_UTR_variant,,ENST00000591958,;EPOR,3_prime_UTR_variant,,ENST00000586890,;EPOR,3_prime_UTR_variant,,ENST00000588859,;EPOR,non_coding_transcript_exon_variant,,ENST00000588681,;EPOR,non_coding_transcript_exon_variant,,ENST00000589402,;EPOR,non_coding_transcript_exon_variant,,ENST00000590927,;RGL3,downstream_gene_variant,,ENST00000563726,;RGL3,downstream_gene_variant,,ENST00000562663,;	T	ENST00000222139	Transcript	missense_variant	781/2411	676/1527	226/508	E/K	Gag/Aag		1		-1	EPOR	HGNC	HGNC:3416	protein_coding	YES	CCDS12260.1	ENSP00000222139	P19235		UPI000012A0AD	NM_000121.3	tolerated(0.17)		5/8		PROSITE_profiles:PS50853,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF28,PROSITE_patterns:PS01352,Gene3D:2.60.40.10,PIRSF_domain:PIRSF001959,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	11381119	11381119	C	T	1	0	0	0	0	1	0	0	0	5036	835	29	3		3	EPOR	19	11381119	Missense_Mutation	SNP	C	C3N-01415_TP	2479292	11381119	47236497	497	25783											
ILVBL	0	.	GRCh38	chr19	15125029	15125029	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaggggaataagctccCagcgggggcggcggccgcgg	8	2	21	10	5	0	0	0	0	0	0	1	3	1	2	2	8	2	1	2	8	3	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.31G>T	p.Gly11Trp	p.G11W	ENST00000263383	2/16	180	150	30	182	182	0	strelka-varscan-mutect	ILVBL,missense_variant,p.Gly11Trp,ENST00000263383,NM_006844.4;ILVBL,missense_variant,p.Gly11Trp,ENST00000527093,;ILVBL,missense_variant,p.Gly11Trp,ENST00000533747,;ILVBL,intron_variant,,ENST00000534378,;ILVBL,intron_variant,,ENST00000598709,;ILVBL,intron_variant,,ENST00000600984,;AC003956.1,intron_variant,,ENST00000598450,;ILVBL,intron_variant,,ENST00000531635,;ILVBL,missense_variant,p.Gly11Trp,ENST00000533148,;ILVBL,non_coding_transcript_exon_variant,,ENST00000599324,;ILVBL,upstream_gene_variant,,ENST00000533086,;	A	ENST00000263383	Transcript	missense_variant	171/2304	31/1899	11/632	G/W	Ggg/Tgg		1		-1	ILVBL	HGNC	HGNC:6041	protein_coding	YES	CCDS12325.1	ENSP00000263383	A1L0T0		UPI000007055E	NM_006844.4	tolerated_low_confidence(0.15)		2/16																			MODERATE	1	SNV	1			1										PASS		rs1397568008	.												A	3	1	78	15125029	15125029	C	A	1	0	0	0	0	1	0	0	0	7618	594	21	2		2	ILVBL	19	15125029	Missense_Mutation	SNP	C	C3N-01415_TP	3743910	15125029	43492587	498	25784											
CYP4F3	0	.	GRCh38	chr19	15641584	15641584	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttcccgcaacccccgaaaCggaattggttcttgggtcac	8	10	10	13	3	2	0	1	0	1	0	3	2	3	1	3	3	2	3	3	3	3	4	rs138587161		C3N-01415_TP	C3N-01415_NB	C	C																c.169C>A	p.=	p.R57R	ENST00000221307	2/13	355	270	85	356	356	0	strelka-varscan-mutect	CYP4F3,synonymous_variant,p.=,ENST00000221307,NM_000896.2;CYP4F3,synonymous_variant,p.=,ENST00000591058,NM_001199208.1;CYP4F3,synonymous_variant,p.=,ENST00000586182,NM_001199209.1;CYP4F3,synonymous_variant,p.=,ENST00000585846,;CYP4F3,intron_variant,,ENST00000620621,;CYP4F3,synonymous_variant,p.=,ENST00000587360,;CYP4F3,non_coding_transcript_exon_variant,,ENST00000592279,;CYP4F3,upstream_gene_variant,,ENST00000609670,;	A	ENST00000221307	Transcript	synonymous_variant	216/5050	169/1563	57/520	R	Cgg/Agg	rs138587161,COSM3970777,COSM3970778	1		1	CYP4F3	HGNC	HGNC:2646	protein_coding	YES	CCDS12332.1	ENSP00000221307	Q08477	A0A024R7J8	UPI0000052BE3	NM_000896.2			2/13		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF25,Superfamily_domains:SSF48264											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs138587161	.												A	2	1	78	15641584	15641584	C	A	1	0	0	0	0	0	0	0	1	3993	527	19	1		1	CYP4F3	19	15641584	Silent	SNP	C	C3N-01415_TP	516555	15641584	42976032	499	25785											
CYP4F3	0	.	GRCh38	chr19	15650016	15650016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acttcctgtattatctcaccCctgatgggcagcgtttccgc	6	13	8	14	2	1	1	1	1	1	0	4	1	3	1	4	1	1	3	4	1	2	4	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.751C>T	p.Pro251Ser	p.P251S	ENST00000221307	7/13	366	302	64	446	446	0	strelka-varscan-mutect	CYP4F3,missense_variant,p.Pro251Ser,ENST00000221307,NM_000896.2;CYP4F3,missense_variant,p.Pro251Ser,ENST00000591058,NM_001199208.1;CYP4F3,missense_variant,p.Pro251Ser,ENST00000586182,NM_001199209.1;CYP4F3,missense_variant,p.Pro251Ser,ENST00000585846,;CYP4F3,missense_variant,p.Pro251Ser,ENST00000620621,;CYP4F3,missense_variant,p.Pro13Ser,ENST00000592424,;CYP4F3,non_coding_transcript_exon_variant,,ENST00000592279,;CYP4F3,downstream_gene_variant,,ENST00000587360,;CYP4F3,downstream_gene_variant,,ENST00000609670,;	T	ENST00000221307	Transcript	missense_variant	798/5050	751/1563	251/520	P/S	Cct/Tct		1		1	CYP4F3	HGNC	HGNC:2646	protein_coding	YES	CCDS12332.1	ENSP00000221307	Q08477	A0A024R7J8	UPI0000052BE3	NM_000896.2	tolerated(0.29)		7/13		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF25,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	15650016	15650016	C	T	1	0	0	0	0	1	0	0	0	3993	623	22	3		3	CYP4F3	19	15650016	Missense_Mutation	SNP	C	C3N-01415_TP	8432	15650016	42967600	500	25786											
FAM32A	0	.	GRCh38	chr19	16185766	16185766	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaaatgcaggagaagcggGtgagcagaagcagaaggcgg	16	2	18	5	2	0	5	0	1	0	4	0	6	0	5	0	4	4	3	0	4	5	0	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.216+1G>T		p.X72_splice	ENST00000263384		105	99	6	97	97	0	strelka-varscan-mutect	FAM32A,splice_donor_variant,,ENST00000263384,NM_014077.3;FAM32A,splice_donor_variant,,ENST00000589852,;FAM32A,splice_donor_variant,,ENST00000588367,;FAM32A,splice_donor_variant,,ENST00000587351,;CTD-2562J15.4,downstream_gene_variant,,ENST00000591038,;Metazoa_SRP,upstream_gene_variant,,ENST00000621370,;FAM32A,splice_donor_variant,,ENST00000585831,;	T	ENST00000263384	Transcript	splice_donor_variant	-/1455	216/339	72/112				1		1	FAM32A	HGNC	HGNC:24563	protein_coding	YES	CCDS12341.1	ENSP00000263384	Q9Y421	A0A024R7I4	UPI0000073135	NM_014077.3				2/3																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	78	16185766	16185766	G	T	1	0	0	0	0	0	0	1	0	5434	1275	44	2		2	FAM32A	19	16185766	Splice_Site	SNP	G	C3N-01415_TP	535750	16185766	42431850	501	25787											
SLC5A5	0	.	GRCh38	chr19	17882199	17882199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcagccctgtcctcactgCtcggaggaggtgtccttcag	5	10	13	13	1	2	0	2	0	0	0	5	2	4	2	3	4	2	2	3	4	0	1	rs755539179		C3N-01415_TP	C3N-01415_NB	C	C																c.1222C>A	p.Leu408Ile	p.L408I	ENST00000222248	10/15	602	526	76	587	586	1	strelka-varscan-mutect	SLC5A5,missense_variant,p.Leu408Ile,ENST00000222248,NM_000453.2;SLC5A5,non_coding_transcript_exon_variant,,ENST00000597109,;	A	ENST00000222248	Transcript	missense_variant	1569/3576	1222/1932	408/643	L/I	Ctc/Atc	rs755539179	1		1	SLC5A5	HGNC	HGNC:11040	protein_coding	YES	CCDS12368.1	ENSP00000222248	Q92911		UPI00001359F6	NM_000453.2	deleterious(0.01)		10/15		Low_complexity_(Seg):seg,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF18,Pfam_domain:PF00474,TIGRFAM_domain:TIGR00813																	MODERATE	1	SNV	1			1										PASS		rs755539179	.												A	3	1	78	17882199	17882199	C	A	1	0	0	0	0	1	0	0	0	14951	797	28	2		2	SLC5A5	19	17882199	Missense_Mutation	SNP	C	C3N-01415_TP	1696433	17882199	40735417	502	25788											
IL12RB1	0	.	GRCh38	chr19	18069670	18069670	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggctggccaatacatGgtggtcccgttggttccgac	5	9	14	13	3	0	0	0	0	0	0	2	1	2	0	4	5	1	3	4	5	2	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1065C>T	p.=	p.T355T	ENST00000600835	11/18	289	263	26	315	315	0	strelka-varscan-mutect	IL12RB1,synonymous_variant,p.=,ENST00000600835,NM_001290024.1;IL12RB1,synonymous_variant,p.=,ENST00000593993,NM_001290023.1,NM_005535.2;IL12RB1,downstream_gene_variant,,ENST00000322153,NM_153701.2;	A	ENST00000600835	Transcript	synonymous_variant	1364/2901	1065/1989	355/662	T	acC/acT		1		-1	IL12RB1	HGNC	HGNC:5971	protein_coding	YES	CCDS54232.1	ENSP00000470788	P42701		UPI00000502CE	NM_001290024.1			11/18		hmmpanther:PTHR23036:SF51,hmmpanther:PTHR23036,PROSITE_patterns:PS01353																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	18069670	18069670	G	A	1	0	0	0	0	0	0	0	1	7534	1335	47	3		3	IL12RB1	19	18069670	Silent	SNP	G	C3N-01415_TP	187471	18069670	40547946	503	25789											
CILP2	0	.	GRCh38	chr19	19544955	19544955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacgccgacaggccagacGcctacaccgccctggtcacc	8	3	11	19	5	1	1	1	0	0	1	1	3	1	1	6	2	1	0	6	2	1	1	rs368883992		C3N-01415_TP	C3N-01415_NB	G	G																c.2410G>T	p.Ala804Ser	p.A804S	ENST00000291495	8/8	169	147	22	207	207	0	strelka-varscan-mutect	CILP2,missense_variant,p.Ala810Ser,ENST00000586018,;CILP2,missense_variant,p.Ala804Ser,ENST00000291495,NM_153221.2;CILP2,downstream_gene_variant,,ENST00000588333,;	T	ENST00000291495	Transcript	missense_variant	2495/4199	2410/3471	804/1156	A/S	Gcc/Tcc	rs368883992	1		1	CILP2	HGNC	HGNC:24213	protein_coding	YES	CCDS12405.1	ENSP00000291495	Q8IUL8		UPI000013E04D	NM_153221.2	tolerated(0.05)		8/8		hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF0																	MODERATE	1	SNV	1			1										PASS		rs368883992	.												T	3	4	78	19544955	19544955	G	T	1	0	0	0	0	1	0	0	0	3192	1087	38	1		1	CILP2	19	19544955	Missense_Mutation	SNP	G	C3N-01415_TP	1475285	19544955	39072661	504	25790											
ZNF85	0	.	GRCh38	chr19	20949379	20949379	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagagaaaccctacaaatgtAaagaatgtggtaaagctttt	17	10	9	5	0	0	2	0	0	0	2	0	4	0	2	1	1	3	3	1	1	8	5	rs775582693		C3N-01415_TP	C3N-01415_NB	A	A																c.865A>G	p.Lys289Glu	p.K289E	ENST00000328178	4/4	222	193	29	334	332	2	strelka-varscan-mutect	ZNF85,missense_variant,p.Lys289Glu,ENST00000328178,NM_003429.4;ZNF85,missense_variant,p.Lys256Glu,ENST00000345030,;ZNF85,missense_variant,p.Lys237Glu,ENST00000596534,;ZNF85,missense_variant,p.Lys212Glu,ENST00000599064,;ZNF85,downstream_gene_variant,,ENST00000595742,;ZNF85,downstream_gene_variant,,ENST00000598862,;ZNF85,downstream_gene_variant,,ENST00000597314,;ZNF85,downstream_gene_variant,,ENST00000595854,;ZNF85,downstream_gene_variant,,ENST00000599885,;ZNF85,downstream_gene_variant,,ENST00000601924,;ZNF85,downstream_gene_variant,,ENST00000601284,NM_001256171.1;ZNF85,non_coding_transcript_exon_variant,,ENST00000601023,;	G	ENST00000328178	Transcript	missense_variant	978/2296	865/1788	289/595	K/E	Aaa/Gaa	rs775582693,COSM349533	1		1	ZNF85	HGNC	HGNC:13160	protein_coding	YES	CCDS32977.1	ENSP00000329793	Q03923		UPI0000203897	NM_003429.4	tolerated(1)		4/4		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF88,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs775582693	.												G	3	3	78	20949379	20949379	A	G	1	0	0	0	0	1	0	0	0	18781	363	13	5		5	ZNF85	19	20949379	Missense_Mutation	SNP	A	C3N-01415_TP	1404424	20949379	37668237	505	25791											
CD22	0	.	GRCh38	chr19	35341576	35341576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactccataggacagacaGcgtccaaggcctggacactt	13	6	9	13	1	0	1	0	0	0	1	2	3	2	3	3	3	2	0	3	3	3	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1741G>T	p.Ala581Ser	p.A581S	ENST00000085219	8/14	118	102	16	152	152	0	strelka-varscan-mutect	CD22,missense_variant,p.Ala581Ser,ENST00000085219,NM_001771.3;CD22,missense_variant,p.Ala493Ser,ENST00000536635,NM_001185099.1;CD22,missense_variant,p.Ala404Ser,ENST00000341773,NM_001185101.1;CD22,missense_variant,p.Ala581Ser,ENST00000544992,NM_001185100.1;CD22,missense_variant,p.Ala409Ser,ENST00000419549,NM_001278417.1;CD22,missense_variant,p.Ala404Ser,ENST00000594250,;CD22,downstream_gene_variant,,ENST00000613136,;CD22,downstream_gene_variant,,ENST00000599811,;CD22,downstream_gene_variant,,ENST00000600424,;CD22,upstream_gene_variant,,ENST00000578146,;CD22,non_coding_transcript_exon_variant,,ENST00000598815,;CD22,downstream_gene_variant,,ENST00000597433,;CD22,downstream_gene_variant,,ENST00000598028,;CD22,downstream_gene_variant,,ENST00000601732,;CD22,downstream_gene_variant,,ENST00000601329,;CD22,3_prime_UTR_variant,,ENST00000601769,;CD22,3_prime_UTR_variant,,ENST00000594125,;CD22,non_coding_transcript_exon_variant,,ENST00000600655,;CD22,non_coding_transcript_exon_variant,,ENST00000602123,;CD22,downstream_gene_variant,,ENST00000594349,;CD22,upstream_gene_variant,,ENST00000593704,;	T	ENST00000085219	Transcript	missense_variant	1807/3268	1741/2544	581/847	A/S	Gcg/Tcg		1		1	CD22	HGNC	HGNC:1643	protein_coding	YES	CCDS12457.1	ENSP00000085219	P20273	Q0EAF5	UPI000012733D	NM_001771.3	tolerated(0.66)		8/14		PROSITE_profiles:PS50835,hmmpanther:PTHR12035:SF60,hmmpanther:PTHR12035,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	35341576	35341576	G	T	1	0	0	0	0	1	0	0	0	2688	971	34	2		2	CD22	19	35341576	Missense_Mutation	SNP	G	C3N-01415_TP	14392197	35341576	23276040	506	25792											
CAPNS1	0	.	GRCh38	chr19	36146025	36146025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagggaccatttgcagtaGtgaactcccaggtgcctttg	9	11	11	10	0	1	1	1	1	0	0	2	2	2	2	3	2	3	2	3	2	2	3	rs550791287		C3N-01415_TP	C3N-01415_NB	G	G																c.575G>T	p.Ser192Ile	p.S192I	ENST00000246533	8/11	450	407	43	504	504	0	strelka-varscan-mutect	CAPNS1,missense_variant,p.Ser192Ile,ENST00000246533,NM_001749.3,NM_001003962.2;CAPNS1,missense_variant,p.Ser192Ile,ENST00000587718,;CAPNS1,missense_variant,p.Ser202Ile,ENST00000628018,;CAPNS1,missense_variant,p.Ser192Ile,ENST00000588815,NM_001302632.1;CAPNS1,missense_variant,p.Ser162Ile,ENST00000628306,;CAPNS1,missense_variant,p.Ser202Ile,ENST00000588780,;CAPNS1,missense_variant,p.Ser162Ile,ENST00000590874,;CAPNS1,missense_variant,p.Ser80Ile,ENST00000592354,;CAPNS1,missense_variant,p.Ser137Ile,ENST00000586851,;CAPNS1,missense_variant,p.Ser124Ile,ENST00000586963,;CAPNS1,intron_variant,,ENST00000629983,;CAPNS1,intron_variant,,ENST00000589146,;CAPNS1,intron_variant,,ENST00000590211,;CAPNS1,downstream_gene_variant,,ENST00000591041,;COX7A1,downstream_gene_variant,,ENST00000292907,NM_001864.3;CAPNS1,downstream_gene_variant,,ENST00000592483,;COX7A1,downstream_gene_variant,,ENST00000437291,;COX7A1,downstream_gene_variant,,ENST00000589154,;AD001527.7,intron_variant,,ENST00000604228,;CAPNS1,missense_variant,p.Ser143Ile,ENST00000590049,;CAPNS1,non_coding_transcript_exon_variant,,ENST00000589162,;COX7A1,downstream_gene_variant,,ENST00000481297,;	T	ENST00000246533	Transcript	missense_variant	1173/1918	575/807	192/268	S/I	aGt/aTt	rs550791287	1		1	CAPNS1	HGNC	HGNC:1481	protein_coding	YES	CCDS12489.1	ENSP00000246533	P04632		UPI0000000E07	NM_001749.3,NM_001003962.2	tolerated(0.29)		8/11		PROSITE_profiles:PS50222,hmmpanther:PTHR10183:SF38,hmmpanther:PTHR10183,PROSITE_patterns:PS00018,Gene3D:1.10.238.10,Pfam_domain:PF13202,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		rs550791287	.												T	3	4	78	36146025	36146025	G	T	1	0	0	0	0	1	0	0	0	2328	1029	36	2		2	CAPNS1	19	36146025	Missense_Mutation	SNP	G	C3N-01415_TP	804449	36146025	22471591	507	25793											
ZNF420	0	.	GRCh38	chr19	37127490	37127490	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatactggtgaaaaacccTatgaatgtaagcaatgcggg	14	10	10	7	1	1	2	1	2	0	0	1	2	1	2	1	2	4	2	1	2	7	4	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.499T>C	p.Tyr167His	p.Y167H	ENST00000337995	5/5	142	129	13	184	184	0	strelka-varscan-mutect	ZNF420,missense_variant,p.Tyr167His,ENST00000337995,NM_144689.3;ZNF420,missense_variant,p.Tyr167His,ENST00000304239,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF420,downstream_gene_variant,,ENST00000589245,;ZNF420,downstream_gene_variant,,ENST00000587029,;ZNF420,downstream_gene_variant,,ENST00000590332,;ZNF420,upstream_gene_variant,,ENST00000585862,;CTC-454I21.4,downstream_gene_variant,,ENST00000587645,;ZNF585A,intron_variant,,ENST00000588723,;ZNF420,upstream_gene_variant,,ENST00000586540,;ZNF585A,intron_variant,,ENST00000587817,;ZNF420,downstream_gene_variant,,ENST00000589461,;	C	ENST00000337995	Transcript	missense_variant	714/3535	499/2067	167/688	Y/H	Tat/Cat		1		1	ZNF420	HGNC	HGNC:20649	protein_coding	YES	CCDS12498.1	ENSP00000338770	Q8TAQ5		UPI000007049F	NM_144689.3	deleterious(0.05)		5/5		PROSITE_profiles:PS50157,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	37127490	37127490	T	C	1	0	0	0	0	1	0	0	0	18469	1522	53	5		5	ZNF420	19	37127490	Missense_Mutation	SNP	T	C3N-01415_TP	981465	37127490	21490126	508	25794											
DLL3	0	.	GRCh38	chr19	39507212	39507212	+	Missense_Mutation	SNP	G	G	A																															cctgcgcgctgggcttcggcGgccgcgactgccgcgagcgc																								novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1267G>A	p.Gly423Ser	p.G423S	ENST00000205143	7/8	143	94	49	143	143	0	strelka-varscan-mutect	DLL3,missense_variant,p.Gly423Ser,ENST00000205143,NM_016941.3;DLL3,missense_variant,p.Gly423Ser,ENST00000356433,NM_203486.2;DLL3,missense_variant,p.Gly195Ser,ENST00000596614,;DLL3,downstream_gene_variant,,ENST00000600437,;	A	ENST00000205143	Transcript	missense_variant	1274/2332	1267/1857	423/618	G/S	Ggc/Agc		1		1	DLL3	HGNC	HGNC:2909	protein_coding	YES	CCDS12538.1	ENSP00000205143	Q9NYJ7		UPI0000051041	NM_016941.3	tolerated(0.12)		7/8		PROSITE_profiles:PS50026,hmmpanther:PTHR24044:SF308,hmmpanther:PTHR24044,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,Pfam_domain:PF00008,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		rs1440504117	.												A	3	1	78	39507212	39507212	G	A	1	0	0	0	0	1	0	0	0	4374	1116	39	1		1	DLL3	19	39507212	Missense_Mutation	SNP	G	C3N-01415_TP	2379722	39507212	19110404	509	25795	550	2									
DLL3	0	.	GRCh38	chr19	39507213	39507213	+	Missense_Mutation	SNP	G	G	T																															ctgcgcgctgggcttcggcgGccgcgactgccgcgagcgcg																								novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1268G>T	p.Gly423Val	p.G423V	ENST00000205143	7/8	144	94	50	144	144	0	strelka-varscan-mutect	DLL3,missense_variant,p.Gly423Val,ENST00000205143,NM_016941.3;DLL3,missense_variant,p.Gly423Val,ENST00000356433,NM_203486.2;DLL3,missense_variant,p.Gly195Val,ENST00000596614,;DLL3,downstream_gene_variant,,ENST00000600437,;	T	ENST00000205143	Transcript	missense_variant	1275/2332	1268/1857	423/618	G/V	gGc/gTc		1		1	DLL3	HGNC	HGNC:2909	protein_coding	YES	CCDS12538.1	ENSP00000205143	Q9NYJ7		UPI0000051041	NM_016941.3	deleterious(0)		7/8		PROSITE_profiles:PS50026,hmmpanther:PTHR24044:SF308,hmmpanther:PTHR24044,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,Pfam_domain:PF00008,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	39507213	39507213	G	T	1	0	0	0	0	1	0	0	0	4374	1203	42	2		2	DLL3	19	39507213	Missense_Mutation	SNP	G	C3N-01415_TP	1	39507213	19110403	510	25796	550	2									
TTC9B	0	.	GRCh38	chr19	40218264	40218264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccgggacgagccgagcCatggcgggagcccgagcctg	8	2	18	13	5	0	0	0	0	0	0	0	6	0	3	5	4	4	0	5	4	0	0	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.118G>A	p.Gly40Ser	p.G40S	ENST00000311308	1/3	124	109	15	130	130	0	strelka-varscan-mutect	TTC9B,missense_variant,p.Gly40Ser,ENST00000311308,NM_152479.5;MAP3K10,downstream_gene_variant,,ENST00000253055,NM_002446.3;CNTD2,downstream_gene_variant,,ENST00000430325,NM_024877.3;CNTD2,downstream_gene_variant,,ENST00000513948,;CNTD2,downstream_gene_variant,,ENST00000599263,;TTC9B,non_coding_transcript_exon_variant,,ENST00000593586,;MAP3K10,downstream_gene_variant,,ENST00000597986,;CNTD2,downstream_gene_variant,,ENST00000221818,;MAP3K10,downstream_gene_variant,,ENST00000594791,;CNTD2,downstream_gene_variant,,ENST00000593335,;	T	ENST00000311308	Transcript	missense_variant	136/843	118/720	40/239	G/S	Ggc/Agc		1		-1	TTC9B	HGNC	HGNC:26395	protein_coding	YES	CCDS12550.1	ENSP00000311760	Q8N6N2		UPI000006E8C1	NM_152479.5	tolerated(0.14)		1/3		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	40218264	40218264	C	T	1	0	0	0	0	1	0	0	0	17226	594	21	3		3	TTC9B	19	40218264	Missense_Mutation	SNP	C	C3N-01415_TP	711051	40218264	18399352	511	25797											
DMRTC2	0	.	GRCh38	chr19	41849256	41849256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccctagccagccccgcaCgtgagtagggagagaaggat	10	4	14	13	2	0	2	0	1	0	1	0	5	0	4	5	2	2	2	5	2	3	2	rs781913731		C3N-01415_TP	C3N-01415_NB	C	C																c.755C>A	p.Thr252Lys	p.T252K	ENST00000269945	6/9	148	132	16	169	169	0	strelka-varscan-mutect	DMRTC2,missense_variant,p.Thr252Lys,ENST00000269945,NM_001040283.2;DMRTC2,missense_variant,p.Thr252Lys,ENST00000596827,;LYPD4,upstream_gene_variant,,ENST00000609812,NM_173506.6;LYPD4,upstream_gene_variant,,ENST00000601246,;DMRTC2,downstream_gene_variant,,ENST00000596660,;DMRTC2,downstream_gene_variant,,ENST00000600017,;DMRTC2,downstream_gene_variant,,ENST00000596258,;DMRTC2,downstream_gene_variant,,ENST00000602098,;DMRTC2,splice_region_variant,,ENST00000601660,;DMRTC2,upstream_gene_variant,,ENST00000599022,;	A	ENST00000269945	Transcript	missense_variant,splice_region_variant	806/1792	755/1104	252/367	T/K	aCa/aAa	rs781913731	1		1	DMRTC2	HGNC	HGNC:13911	protein_coding	YES	CCDS33034.1	ENSP00000269945	Q8IXT2		UPI0000071B2A	NM_001040283.2	tolerated(0.08)		6/9		hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF15,Pfam_domain:PF15791																	MODERATE	1	SNV	1			1										PASS		rs781913731	.												A	3	1	78	41849256	41849256	C	A	1	0	0	0	0	1	0	0	0	4399	550	19	1		1	DMRTC2	19	41849256	Missense_Mutation	SNP	C	C3N-01415_TP	1630992	41849256	16768360	512	25798											
ZNF574	0	.	GRCh38	chr19	42078799	42078799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagacacagcttcaggcacgGgcctctatcagacccttgtg	9	8	10	14	1	3	2	2	0	1	2	3	2	3	2	2	2	1	2	2	2	1	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.193G>T	p.Gly65Cys	p.G65C	ENST00000600245	2/2	198	165	33	232	232	0	strelka-varscan-mutect	ZNF574,missense_variant,p.Gly65Cys,ENST00000600245,;ZNF574,missense_variant,p.Gly155Cys,ENST00000222339,;ZNF574,missense_variant,p.Gly65Cys,ENST00000359044,NM_022752.5;ZNF574,missense_variant,p.Gly65Cys,ENST00000597391,;	T	ENST00000600245	Transcript	missense_variant	848/3598	193/2691	65/896	G/C	Ggc/Tgc		1		1	ZNF574	HGNC	HGNC:26166	protein_coding	YES	CCDS12596.1	ENSP00000469029	Q6ZN55		UPI00001AE536		tolerated(0.06)		2/2		hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF38																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	78	42078799	42078799	G	T	1	0	0	0	0	1	0	0	0	18580	1232	43	2		2	ZNF574	19	42078799	Missense_Mutation	SNP	G	C3N-01415_TP	229543	42078799	16538817	513	25799											
ZNF45	0	.	GRCh38	chr19	43919576	43919576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgcctgtcctcacccaCtgagaccacattcctgaagt	11	9	7	14	0	1	3	1	2	0	2	3	4	3	3	5	0	1	0	5	0	2	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.139G>T	p.Val47Leu	p.V47L	ENST00000269973	8/10	147	130	17	161	161	0	varscan-mutect	ZNF45,missense_variant,p.Val47Leu,ENST00000269973,NM_003425.3;ZNF45,missense_variant,p.Val47Leu,ENST00000615985,;ZNF45,missense_variant,p.Val47Leu,ENST00000589703,;ZNF45,missense_variant,p.Val11Leu,ENST00000588140,;RP11-15A1.2,intron_variant,,ENST00000586247,;	A	ENST00000269973	Transcript	missense_variant	1230/3898	139/2049	47/682	V/L	Gtg/Ttg		1		-1	ZNF45	HGNC	HGNC:13111	protein_coding	YES	CCDS12632.1	ENSP00000269973	Q02386		UPI0000001C64	NM_003425.3	tolerated(0.13)		8/10		PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF174,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	78	43919576	43919576	C	A	1	0	0	0	0	1	0	0	0	18492	579	20	2		2	ZNF45	19	43919576	Missense_Mutation	SNP	C	C3N-01415_TP	1840777	43919576	14698040	514	25800											
INAFM1	0	.	GRCh38	chr19	47275084	47275084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtactacggtctcatctgGgtacccacgcggtctcccgc	5	10	11	15	4	3	0	1	0	3	0	5	0	3	0	2	3	3	2	2	3	3	3	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.165G>T	p.Trp55Cys	p.W55C	ENST00000552360	1/1	362	316	46	378	377	1	strelka-varscan-mutect	INAFM1,missense_variant,p.Trp55Cys,ENST00000552360,NM_178511.5;CCDC9,downstream_gene_variant,,ENST00000221922,NM_015603.2;CCDC9,downstream_gene_variant,,ENST00000600117,;	T	ENST00000552360	Transcript	missense_variant	632/1255	165/429	55/142	W/C	tgG/tgT		1		1	INAFM1	HGNC	HGNC:27406	protein_coding	YES	CCDS46131.1	ENSP00000447679	C9JVW0		UPI0000070F52	NM_178511.5	deleterious_low_confidence(0)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR34929:SF1,hmmpanther:PTHR34929,Pfam_domain:PF15018																	MODERATE		SNV				1										PASS		.	.												T	3	4	78	47275084	47275084	G	T	1	0	0	0	0	1	0	0	0	7633	1241	43	2		2	INAFM1	19	47275084	Missense_Mutation	SNP	G	C3N-01415_TP	3355508	47275084	11342532	515	25801											
ZNF541	0	.	GRCh38	chr19	47544393	47544393	+	Frame_Shift_Del	DEL	C	C	-																															ggggcctgcttccctggcagCgaggctcctggtggctcctc																								novel		C3N-01415_TP	C3N-01415_NB	C	C																c.2136delG	p.Leu713CysfsTer63	p.L713Cfs*63	ENST00000391901	3/15	259	235	24	323	323	0	varindel-pindel	ZNF541,frameshift_variant,p.Leu713CysfsTer63,ENST00000314121,;ZNF541,frameshift_variant,p.Leu713CysfsTer63,ENST00000391901,NM_001277075.1;ZNF541,frameshift_variant,p.Leu291CysfsTer63,ENST00000595558,;ZNF541,frameshift_variant,p.Leu304CysfsTer63,ENST00000263351,;ZNF541,upstream_gene_variant,,ENST00000487275,;	-	ENST00000391901	Transcript	frameshift_variant	2136/4580	2136/4041	712/1346	S/X	tcG/tc		1		-1	ZNF541	HGNC	HGNC:25294	protein_coding	YES	CCDS46133.2	ENSP00000375770	Q9H0D2		UPI0000E5A21D	NM_001277075.1			3/15		hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF23																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	78	47544393	47544393	C	-	1	0	1	0	1	0	0	0	0	18549	755	27	0		0	ZNF541	19	47544393	Frame_Shift_Del	DEL	C	C3N-01415_TP	269309	47544393	11073223	516	25802											
ALDH16A1	0	.	GRCh38	chr19	49466091	49466091	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgcccacagctgggcgggCcagtccccaggagcccgggc	5	4	15	17	2	1	0	0	0	1	0	2	1	2	1	5	4	3	1	5	4	0	0	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1746C>T	p.=	p.G582G	ENST00000293350	14/17	120	114	6	139	139	0	strelka-mutect	ALDH16A1,synonymous_variant,p.=,ENST00000293350,NM_153329.3;ALDH16A1,synonymous_variant,p.=,ENST00000455361,NM_001145396.1;ALDH16A1,synonymous_variant,p.=,ENST00000540132,;ALDH16A1,missense_variant,p.Ala120Val,ENST00000600265,;ALDH16A1,3_prime_UTR_variant,,ENST00000593417,;ALDH16A1,non_coding_transcript_exon_variant,,ENST00000599652,;CTD-3148I10.9,intron_variant,,ENST00000599536,;ALDH16A1,upstream_gene_variant,,ENST00000594549,;	T	ENST00000293350	Transcript	synonymous_variant	1909/3153	1746/2409	582/802	G	ggC/ggT		1		1	ALDH16A1	HGNC	HGNC:28114	protein_coding	YES	CCDS12766.1	ENSP00000293350	Q8IZ83		UPI000013E0FF	NM_153329.3			14/17		Gene3D:3.40.605.10,PIRSF_domain:PIRSF036490,Pfam_domain:PF00171,Superfamily_domains:SSF53720																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	49466091	49466091	C	T	1	0	0	0	0	0	0	0	1	588	726	26	3		3	ALDH16A1	19	49466091	Silent	SNP	C	C3N-01415_TP	1921698	49466091	9151525	517	25803											
LRRC4B	0	.	GRCh38	chr19	50548832	50548832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacggggagccgcgggcacGcgccatcctcaatgttcatg	7	6	14	14	5	2	0	2	0	0	0	3	1	3	1	3	3	1	3	3	3	1	1	rs779023193		C3N-01415_TP	C3N-01415_NB	G	G																c.7C>A	p.Arg3Ser	p.R3S	ENST00000599957	2/3	63	48	15	67	67	0	strelka-varscan-mutect	LRRC4B,missense_variant,p.Arg3Ser,ENST00000599957,;LRRC4B,missense_variant,p.Arg3Ser,ENST00000389201,NM_001080457.1;LRRC4B,missense_variant,p.Arg3Ser,ENST00000600381,;	T	ENST00000599957	Transcript	missense_variant	205/3019	7/2142	3/713	R/S	Cgt/Agt	rs779023193	1		-1	LRRC4B	HGNC	HGNC:25042	protein_coding	YES	CCDS42595.1	ENSP00000471502	Q9NT99	A0A024R4I8	UPI00000497E7		tolerated_low_confidence(0.1)		2/3		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	3			1										PASS		rs779023193	.												T	3	4	78	50548832	50548832	G	T	1	0	0	0	0	1	0	0	0	8902	1087	38	1		1	LRRC4B	19	50548832	Missense_Mutation	SNP	G	C3N-01415_TP	1082741	50548832	8068784	518	25804											
KLK1	0	.	GRCh38	chr19	50821828	50821828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggaatgctgctcacaCtcccagcctcccacaatccg	8	7	9	17	1	1	0	1	0	0	0	4	1	4	1	4	2	3	3	4	2	2	0	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.90G>T	p.Glu30Asp	p.E30D	ENST00000301420	2/5	122	110	12	98	98	0	strelka-varscan-mutect	KLK1,missense_variant,p.Glu30Asp,ENST00000301420,NM_002257.3;KLK15,downstream_gene_variant,,ENST00000326856,NM_001277081.1;KLK15,downstream_gene_variant,,ENST00000598239,NM_017509.3;KLK15,downstream_gene_variant,,ENST00000596931,NM_001277082.1;MGC45922,downstream_gene_variant,,ENST00000635639,;MGC45922,downstream_gene_variant,,ENST00000634979,;MGC45922,downstream_gene_variant,,ENST00000326989,;MGC45922,downstream_gene_variant,,ENST00000593632,;KLK1,3_prime_UTR_variant,,ENST00000593325,;KLK1,non_coding_transcript_exon_variant,,ENST00000593859,;KLK15,downstream_gene_variant,,ENST00000596531,;KLK15,downstream_gene_variant,,ENST00000601680,;KLK1,upstream_gene_variant,,ENST00000596300,;KLK15,downstream_gene_variant,,ENST00000602114,;	A	ENST00000301420	Transcript	missense_variant	126/866	90/789	30/262	E/D	gaG/gaT		1		-1	KLK1	HGNC	HGNC:6357	protein_coding	YES	CCDS12804.1	ENSP00000301420	P06870		UPI000004CA0D	NM_002257.3	tolerated(0.1)		2/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF111,hmmpanther:PTHR24256,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs1487017655	.												A	3	1	78	50821828	50821828	C	A	1	0	0	0	0	1	0	0	0	8266	564	20	2		2	KLK1	19	50821828	Missense_Mutation	SNP	C	C3N-01415_TP	272996	50821828	7795788	519	25805											
KLK7	0	.	GRCh38	chr19	50981852	50981852	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgattgccactgagcagggCcacctgccatgggtgggagc	7	7	15	12	0	0	2	0	2	0	0	0	3	0	3	4	3	4	1	4	3	0	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.136G>C	p.Ala46Pro	p.A46P	ENST00000391807	3/6	254	209	45	273	273	0	strelka-varscan-mutect	KLK7,missense_variant,p.Ala46Pro,ENST00000391807,NM_139277.2;KLK7,missense_variant,p.Ala46Pro,ENST00000595820,NM_005046.3;KLK7,5_prime_UTR_variant,,ENST00000597707,NM_001207053.1;KLK7,5_prime_UTR_variant,,ENST00000593904,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK7,downstream_gene_variant,,ENST00000595638,;KLK7,intron_variant,,ENST00000304045,NM_001243126.1;	G	ENST00000391807	Transcript	missense_variant	238/1912	136/762	46/253	A/P	Gcc/Ccc		1		-1	KLK7	HGNC	HGNC:6368	protein_coding	YES	CCDS12812.1	ENSP00000375683	P49862	A0A024R4H6	UPI0000001BC4	NM_139277.2	deleterious(0)		3/6		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF231,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	78	50981852	50981852	C	G	1	0	0	0	0	1	0	0	0	8278	739	26	4		4	KLK7	19	50981852	Missense_Mutation	SNP	C	C3N-01415_TP	160024	50981852	7635764	520	25806											
VN1R4	0	.	GRCh38	chr19	53267433	53267433	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaaacaagtttgcacccaAgagcattgagaaaatatcta	19	8	7	7	0	1	3	0	1	1	3	1	4	1	3	1	0	3	3	1	0	8	4	rs753112793		C3N-01415_TP	C3N-01415_NB	A	A																c.233T>C	p.Leu78Pro	p.L78P	ENST00000311170	1/1	424	372	52	489	489	0	varscan-mutect	VN1R4,missense_variant,p.Leu78Pro,ENST00000311170,NM_173857.2;CTD-2245F17.9,downstream_gene_variant,,ENST00000599803,;	G	ENST00000311170	Transcript	missense_variant	291/1048	233/906	78/301	L/P	cTt/cCt	rs753112793	1		-1	VN1R4	HGNC	HGNC:19871	protein_coding	YES	CCDS33099.1	ENSP00000310856	Q7Z5H5		UPI000004B23A	NM_173857.2	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF03402,Prints_domain:PR01534,PROSITE_profiles:PS50262,hmmpanther:PTHR24062,hmmpanther:PTHR24062:SF80,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs753112793	.												G	3	3	78	53267433	53267433	A	G	1	0	0	0	0	1	0	0	0	17728	72	3	5		5	VN1R4	19	53267433	Missense_Mutation	SNP	A	C3N-01415_TP	2285581	53267433	5350183	521	25807											
ZNF331	0	.	GRCh38	chr19	53577235	53577235	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactgtggaaaggcctttcgGcgtggtgatgagctcactca	8	10	14	9	2	2	2	2	2	0	0	3	4	2	3	1	4	1	1	1	4	1	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.675G>T	p.=	p.R225R	ENST00000253144	7/7	206	179	27	238	237	1	strelka-varscan-mutect	ZNF331,synonymous_variant,p.=,ENST00000253144,NM_018555.5;ZNF331,synonymous_variant,p.=,ENST00000449416,NM_001317115.1,NM_001317117.1,NM_001317118.1;ZNF331,synonymous_variant,p.=,ENST00000411977,NM_001079906.1,NM_001253799.1,NM_001253798.1;ZNF331,synonymous_variant,p.=,ENST00000512387,NM_001253801.1;ZNF331,synonymous_variant,p.=,ENST00000511154,;ZNF331,synonymous_variant,p.=,ENST00000511593,NM_001079907.1;ZNF331,synonymous_variant,p.=,ENST00000513999,NM_001253800.1;ZNF331,intron_variant,,ENST00000513265,;ZNF331,downstream_gene_variant,,ENST00000514022,;ZNF331,downstream_gene_variant,,ENST00000505949,;ZNF331,downstream_gene_variant,,ENST00000505426,;ZNF331,downstream_gene_variant,,ENST00000502248,;ZNF331,downstream_gene_variant,,ENST00000509047,;ZNF331,downstream_gene_variant,,ENST00000504493,;ZNF331,downstream_gene_variant,,ENST00000514374,;ZNF331,downstream_gene_variant,,ENST00000502616,;ZNF331,downstream_gene_variant,,ENST00000509585,;ZNF331,downstream_gene_variant,,ENST00000511567,;	T	ENST00000253144	Transcript	synonymous_variant	2008/5042	675/1392	225/463	R	cgG/cgT		1		1	ZNF331	HGNC	HGNC:15489	protein_coding	YES	CCDS33102.1	ENSP00000253144	Q9NQX6	A0A024R4J5	UPI0000039DC3	NM_018555.5			7/7		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF13,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	53577235	53577235	G	T	1	0	0	0	0	0	0	0	1	18421	1190	42	2		2	ZNF331	19	53577235	Silent	SNP	G	C3N-01415_TP	309802	53577235	5040381	522	25808											
DPRX	0	.	GRCh38	chr19	53636650	53636650	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcgaaatgcaagcatattCatcaaaaacaagaaactcca	21	6	5	9	1	2	1	2	0	0	1	3	2	3	1	1	0	5	2	1	0	8	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.238C>G	p.His80Asp	p.H80D	ENST00000376650	3/3	140	106	34	172	172	0	strelka-varscan-mutect	DPRX,missense_variant,p.His80Asp,ENST00000376650,NM_001012728.1;	G	ENST00000376650	Transcript	missense_variant	289/648	238/576	80/191	H/D	Cat/Gat		1		1	DPRX	HGNC	HGNC:32166	protein_coding	YES	CCDS33103.1	ENSP00000365838	A6NFQ7		UPI00004ED62B	NM_001012728.1	tolerated(0.5)		3/3		hmmpanther:PTHR24329:SF299,hmmpanther:PTHR24329																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	78	53636650	53636650	C	G	1	0	0	0	0	1	0	0	0	4553	826	29	4		4	DPRX	19	53636650	Missense_Mutation	SNP	C	C3N-01415_TP	59415	53636650	4980966	523	25809											
LAIR1	0	.	GRCh38	chr19	54355288	54355288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgtctggcaacggctgCatacgtgatggactcggcca	8	9	13	11	3	2	1	1	1	1	0	3	2	2	2	1	4	3	3	1	4	2	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.844G>T	p.Ala282Ser	p.A282S	ENST00000391742	10/10	108	81	27	101	101	0	strelka-varscan-mutect	LAIR1,missense_variant,p.Ala282Ser,ENST00000391742,NM_002287.5;LAIR1,missense_variant,p.Ala264Ser,ENST00000391743,NM_001289026.2,NM_001289027.2;LAIR1,missense_variant,p.Ala281Ser,ENST00000434277,NM_001289025.2;LAIR1,missense_variant,p.Ala265Ser,ENST00000348231,NM_021706.4;LAIR1,missense_variant,p.Ala264Ser,ENST00000474878,NM_001289023.2;LAIR1,downstream_gene_variant,,ENST00000622064,;LAIR1,downstream_gene_variant,,ENST00000440716,;LAIR1,downstream_gene_variant,,ENST00000463489,;LAIR1,downstream_gene_variant,,ENST00000468656,;LAIR1,3_prime_UTR_variant,,ENST00000391741,;LAIR1,non_coding_transcript_exon_variant,,ENST00000475389,;LAIR1,non_coding_transcript_exon_variant,,ENST00000467269,;LAIR1,non_coding_transcript_exon_variant,,ENST00000498511,;LAIR1,downstream_gene_variant,,ENST00000460312,;LAIR1,downstream_gene_variant,,ENST00000418556,;LAIR1,downstream_gene_variant,,ENST00000436513,;LAIR1,downstream_gene_variant,,ENST00000420483,;	A	ENST00000391742	Transcript	missense_variant	997/4901	844/864	282/287	A/S	Gca/Tca		1		-1	LAIR1	HGNC	HGNC:6477	protein_coding	YES	CCDS12891.1	ENSP00000375622	Q6GTX8		UPI00034F23B9	NM_002287.5	deleterious(0)		10/10		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF122																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	54355288	54355288	C	A	1	0	0	0	0	1	0	0	0	8506	710	25	2		2	LAIR1	19	54355288	Missense_Mutation	SNP	C	C3N-01415_TP	718638	54355288	4262328	524	25810											
LILRB1	0	.	GRCh38	chr19	54636637	54636637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacaggcggaagaggacagGcagatggacactgaggtgag	14	3	18	6	1	0	5	0	2	0	3	0	8	0	8	0	6	0	1	0	6	1	0	rs756832533		C3N-01415_TP	C3N-01415_NB	G	G																c.1797G>T	p.Arg599Ser	p.R599S	ENST00000324602	14/15	350	305	45	425	425	0	strelka-varscan-mutect	LILRB1,missense_variant,p.Arg597Ser,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Arg598Ser,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Arg598Ser,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Arg599Ser,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Arg648Ser,ENST00000427581,;LILRB1,missense_variant,p.Arg599Ser,ENST00000396315,;LILRB1,missense_variant,p.Arg581Ser,ENST00000396317,NM_001278398.2;AC009892.10,intron_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,3_prime_UTR_variant,,ENST00000421584,;LILRB1,downstream_gene_variant,,ENST00000480375,;LILRB1,downstream_gene_variant,,ENST00000487425,;	T	ENST00000324602	Transcript	missense_variant	1962/2774	1797/1959	599/652	R/S	agG/agT	rs756832533,COSM1481496	1		1	LILRB1	HGNC	HGNC:6605	protein_coding	YES	CCDS42614.1	ENSP00000315997		A0A087WSV6	UPI00034F23AA	NM_001081637.2	tolerated(0.05)		14/15													0,1						MODERATE		SNV	5		0,1	1										PASS		rs756832533	.												T	3	4	78	54636637	54636637	G	T	1	0	0	0	0	1	0	0	0	8698	1194	42	2		2	LILRB1	19	54636637	Missense_Mutation	SNP	G	C3N-01415_TP	281349	54636637	3980979	525	25811											
LILRB4	0	.	GRCh38	chr19	54663992	54663992	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgttactatcgcagcccTgtaggctggtcacagcccag	7	9	11	14	2	1	0	1	0	0	0	2	0	1	0	2	2	3	5	2	2	3	3	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.309T>A	p.=	p.P103P	ENST00000391736	5/14	239	209	30	373	373	0	strelka-varscan-mutect	LILRB4,synonymous_variant,p.=,ENST00000391736,NM_001278426.3;LILRB4,synonymous_variant,p.=,ENST00000430952,NM_001278427.3;LILRB4,synonymous_variant,p.=,ENST00000391733,NM_001278429.3,NM_001278428.3;LILRB4,synonymous_variant,p.=,ENST00000391734,;LILRB4,synonymous_variant,p.=,ENST00000434286,;LILRB4,downstream_gene_variant,,ENST00000270452,;LILRB4,upstream_gene_variant,,ENST00000461262,;LILRB4,3_prime_UTR_variant,,ENST00000494796,;LILRB4,upstream_gene_variant,,ENST00000470943,;	A	ENST00000391736	Transcript	synonymous_variant	624/4002	309/1347	103/448	P	ccT/ccA		1		1	LILRB4	HGNC	HGNC:6608	protein_coding	YES	CCDS12902.1	ENSP00000375616	Q8NHJ6		UPI0000034C02	NM_001278426.3			5/14		PROSITE_profiles:PS50835,hmmpanther:PTHR11738:SF30,hmmpanther:PTHR11738,Pfam_domain:PF13895,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	78	54663992	54663992	T	A	1	0	0	0	0	0	0	0	1	8701	1567	55	4		4	LILRB4	19	54663992	Silent	SNP	T	C3N-01415_TP	27355	54663992	3953624	526	25812											
SYT5	0	.	GRCh38	chr19	55178971	55178972	+	Frame_Shift_Ins	INS	-	-	G																															gtcttgctcacctgggccgtINSggctgatgcgactggagtcg																								novel		C3N-01415_TP	C3N-01415_NB	-	-																c.70dupC	p.His24ProfsTer85	p.H24Pfs*85	ENST00000354308	2/9	60	52	8	52	52	0	sindel-varindel	SYT5,frameshift_variant,p.His24ProfsTer85,ENST00000354308,NM_003180.2;SYT5,frameshift_variant,p.Thr79HisfsTer27,ENST00000590851,NM_001297774.1;SYT5,frameshift_variant,p.His24ProfsTer85,ENST00000537500,;SYT5,frameshift_variant,p.His24ProfsTer85,ENST00000592470,;SYT5,frameshift_variant,p.His24ProfsTer85,ENST00000589172,;PTPRH,downstream_gene_variant,,ENST00000376350,NM_002842.4;PTPRH,downstream_gene_variant,,ENST00000263434,NM_001161440.2;SYT5,upstream_gene_variant,,ENST00000590859,;SYT5,upstream_gene_variant,,ENST00000587067,;CTD-2587H24.5,downstream_gene_variant,,ENST00000591665,;SYT5,frameshift_variant,p.His24ProfsTer9,ENST00000585461,;SYT5,upstream_gene_variant,,ENST00000588305,;SYT5,upstream_gene_variant,,ENST00000592956,;	G	ENST00000354308	Transcript	frameshift_variant	440-441/3792	70-71/1161	24/386	H/PX	cac/cCac		1		-1	SYT5	HGNC	HGNC:11513	protein_coding	YES	CCDS12919.1	ENSP00000346265	O00445	A0A024R4N8	UPI000013C56F	NM_003180.2			2/9		hmmpanther:PTHR10024:SF227,hmmpanther:PTHR10024																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	78	55178971	55178971	-	G	1	0	1	1	0	0	0	0	0	15871	1696	59	0		0	SYT5	19	55178971	Frame_Shift_Ins	INS	-	C3N-01415_TP	514979	55178971	3438645	527	25813											
ZNF543	0	.	GRCh38	chr19	57327893	57327893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggataggcccccagcgggGgaagctgctggagaaaatga	12	4	17	8	1	0	2	0	1	0	1	0	5	0	4	2	5	3	2	2	5	4	1	rs748458287		C3N-01415_TP	C3N-01415_NB	G	G																c.431G>T	p.Gly144Val	p.G144V	ENST00000321545	4/4	219	177	42	246	246	0	strelka-varscan-mutect	ZNF543,missense_variant,p.Gly144Val,ENST00000321545,NM_213598.3;	T	ENST00000321545	Transcript	missense_variant	776/3659	431/1803	144/600	G/V	gGg/gTg	rs748458287	1		1	ZNF543	HGNC	HGNC:25281	protein_coding	YES	CCDS33130.1	ENSP00000322545	Q08ER8		UPI00001D8197	NM_213598.3	deleterious(0.01)		4/4																			MODERATE	1	SNV	1			1										PASS		rs748458287	.												T	3	4	78	57327893	57327893	G	T	1	0	0	0	0	1	0	0	0	18550	1232	43	2		2	ZNF543	19	57327893	Missense_Mutation	SNP	G	C3N-01415_TP	2148922	57327893	1289723	528	25814											
ZNF606	0	.	GRCh38	chr19	57979838	57979838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattatctccagtttgtattCttgcagggtaaataggttga	10	16	10	5	0	2	1	0	1	2	0	3	2	2	1	1	2	1	5	1	2	5	8	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.842G>A	p.Arg281Lys	p.R281K	ENST00000341164	7/7	238	217	21	324	324	0	strelka-varscan-mutect	ZNF606,missense_variant,p.Arg281Lys,ENST00000341164,NM_025027.3;ZNF606,missense_variant,p.Arg281Lys,ENST00000551380,;ZNF606,3_prime_UTR_variant,,ENST00000550599,;	T	ENST00000341164	Transcript	missense_variant	1463/4248	842/2379	281/792	R/K	aGa/aAa		1		-1	ZNF606	HGNC	HGNC:25879	protein_coding	YES	CCDS12968.1	ENSP00000343617	Q8WXB4	A0A024R4S7	UPI000013C35B	NM_025027.3	tolerated(0.08)		7/7																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	57979838	57979838	C	T	1	0	0	0	0	1	0	0	0	18607	913	32	3		3	ZNF606	19	57979838	Missense_Mutation	SNP	C	C3N-01415_TP	651945	57979838	637778	529	25815											
ZSCAN1	0	.	GRCh38	chr19	58037968	58037968	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtctgcgcttccggcagttCcagtaccacgtggcgagcgg	5	8	14	14	6	1	0	0	0	1	0	3	1	3	0	3	3	3	4	3	3	1	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.132C>A	p.Phe44Leu	p.F44L	ENST00000282326	3/6	174	159	15	200	199	1	strelka-varscan-mutect	ZSCAN1,missense_variant,p.Phe44Leu,ENST00000282326,NM_182572.3;ZSCAN1,missense_variant,p.Phe44Leu,ENST00000391700,;ZSCAN1,missense_variant,p.Phe44Leu,ENST00000601162,;	A	ENST00000282326	Transcript	missense_variant	379/2054	132/1227	44/408	F/L	ttC/ttA		1		1	ZSCAN1	HGNC	HGNC:23712	protein_coding	YES	CCDS12969.1	ENSP00000282326	Q8NBB4		UPI000013DCD2	NM_182572.3	deleterious(0)		3/6		PROSITE_profiles:PS50804,hmmpanther:PTHR10032:SF187,hmmpanther:PTHR10032,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	78	58037968	58037968	C	A	1	0	0	0	0	1	0	0	0	18820	854	30	2		2	ZSCAN1	19	58037968	Missense_Mutation	SNP	C	C3N-01415_TP	58130	58037968	579648	530	25816											
ZNF497	0	.	GRCh38	chr19	58357540	58357540	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccagcctccagacacagcCccctcagagaggcccctcgt	8	4	8	21	1	1	2	1	0	0	2	3	3	2	2	8	1	2	0	8	1	0	0	rs148878757		C3N-01415_TP	C3N-01415_NB	C	C																c.96G>T	p.=	p.G32G	ENST00000311044	3/3	83	68	15	104	104	0	strelka-varscan-mutect	ZNF497,synonymous_variant,p.=,ENST00000311044,NM_198458.2;ZNF497,synonymous_variant,p.=,ENST00000425453,NM_001207009.1;ZNF497,synonymous_variant,p.=,ENST00000595763,;A1BG,upstream_gene_variant,,ENST00000263100,NM_130786.3;A1BG,upstream_gene_variant,,ENST00000600966,;A1BG-AS1,downstream_gene_variant,,ENST00000595302,;A1BG-AS1,downstream_gene_variant,,ENST00000594950,;CTD-2619J13.9,upstream_gene_variant,,ENST00000599952,;A1BG-AS1,downstream_gene_variant,,ENST00000600686,;A1BG-AS1,downstream_gene_variant,,ENST00000593960,;A1BG-AS1,downstream_gene_variant,,ENST00000593374,;A1BG-AS1,downstream_gene_variant,,ENST00000600379,;A1BG-AS1,downstream_gene_variant,,ENST00000599728,;CTD-2619J13.8,intron_variant,,ENST00000599109,;CTD-2619J13.8,upstream_gene_variant,,ENST00000600123,;CTD-2619J13.8,upstream_gene_variant,,ENST00000596636,;A1BG,upstream_gene_variant,,ENST00000595014,;	A	ENST00000311044	Transcript	synonymous_variant	285/3468	96/1497	32/498	G	ggG/ggT	rs148878757,COSM1613000	1		-1	ZNF497	HGNC	HGNC:23714	protein_coding	YES	CCDS12977.1	ENSP00000311183	Q6ZNH5		UPI00001D819C	NM_198458.2			3/3													0,1						LOW		SNV	2		0,1	1										PASS		rs148878757	.												A	2	1	78	58357540	58357540	C	A	1	0	0	0	0	0	0	0	1	18519	610	22	2		2	ZNF497	19	58357540	Silent	SNP	C	C3N-01415_TP	319572	58357540	260076	531	25817											
SIRPB1	0	.	GRCh38	chr20	1578383	1578383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagacttaaactccacgtCgtcagggctccctttccgga	8	10	8	15	3	1	1	1	0	0	1	6	2	5	2	4	2	1	1	4	2	2	2	rs572529769,rs866668053		C3N-01415_TP	C3N-01415_NB	C	C																c.388G>A	p.Asp130Asn	p.D130N	ENST00000381605	2/6	447	424	23	399	398	1	varscan-mutect	SIRPB1,missense_variant,p.Asp130Asn,ENST00000381605,NM_006065.3;SIRPB1,missense_variant,p.Asp130Asn,ENST00000381603,NM_001083910.2;SIRPB1,missense_variant,p.Asp129Asn,ENST00000262929,;RP4-576H24.4,missense_variant,p.Asp130Asn,ENST00000564763,;SIRPB1,missense_variant,p.Asp129Asn,ENST00000563840,;RP4-576H24.4,missense_variant,p.Asp129Asn,ENST00000567028,;RP4-576H24.4,intron_variant,,ENST00000566961,;SIRPB1,intron_variant,,ENST00000569629,;SIRPB1,non_coding_transcript_exon_variant,,ENST00000565775,;	T	ENST00000381605	Transcript	missense_variant	453/3241	388/1197	130/398	D/N	Gac/Aac	rs572529769,rs866668053,COSM1724829	1		-1	SIRPB1	HGNC	HGNC:15928	protein_coding	YES	CCDS13019.1	ENSP00000371018	O00241		UPI000036700F	NM_006065.3	tolerated(0.17)		2/6		Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF12,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,0,1						MODERATE	1	SNV	1		0,0,1	1										PASS		rs572529769	.												T	3	4	78	1578383	1578383	C	T	1	0	0	0	0	1	0	0	0	14596	884	31	1		1	SIRPB1	20	1578383	Missense_Mutation	SNP	C	C3N-01415_TP		1578383	62865784	532	25818											
PROKR2	0	.	GRCh38	chr20	5302345	5302345	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtgcccagcacagcacatAggccgtgagaatgcacatga	12	5	13	11	1	0	2	0	2	0	1	0	3	0	2	2	2	4	3	2	2	2	1	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.850T>A	p.Tyr284Asn	p.Y284N	ENST00000217270	2/2	824	749	75	830	829	1	strelka-varscan-mutect	PROKR2,missense_variant,p.Tyr284Asn,ENST00000217270,NM_144773.2;	T	ENST00000217270	Transcript	missense_variant	850/1155	850/1155	284/384	Y/N	Tat/Aat		1		-1	PROKR2	HGNC	HGNC:15836	protein_coding	YES	CCDS13089.1	ENSP00000217270	Q8NFJ6		UPI000003BCC6	NM_144773.2	deleterious(0)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF234,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	5302345	5302345	A	T	1	0	0	0	0	1	0	0	0	12686	420	15	4		4	PROKR2	20	5302345	Missense_Mutation	SNP	A	C3N-01415_TP	3723962	5302345	59141822	533	25819											
CFAP61	0	.	GRCh38	chr20	20251680	20251680	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaatgaccggcatagacCgagcagccaagcacgttgtg	12	6	13	10	3	0	3	0	1	0	2	0	4	0	3	3	1	3	5	3	1	4	3			C3N-01415_TP	C3N-01415_NB	C	C																c.2245C>G	p.Arg749Gly	p.R749G	ENST00000245957	20/27	403	326	77	426	426	0	strelka-varscan-mutect	CFAP61,missense_variant,p.Arg749Gly,ENST00000245957,NM_015585.3;CFAP61,missense_variant,p.Arg105Gly,ENST00000377293,;CFAP61,missense_variant,p.Arg105Gly,ENST00000389656,;CFAP61,non_coding_transcript_exon_variant,,ENST00000476414,;CFAP61,non_coding_transcript_exon_variant,,ENST00000468719,;CFAP61,missense_variant,p.Arg105Gly,ENST00000377308,;RPL17P1,downstream_gene_variant,,ENST00000445304,;	G	ENST00000245957	Transcript	missense_variant	2321/4082	2245/3714	749/1237	R/G	Cga/Gga	COSM3544555,COSM3544556	1		1	CFAP61	HGNC	HGNC:15872	protein_coding	YES	CCDS33447.1	ENSP00000245957	Q8NHU2		UPI0000206AE4	NM_015585.3	deleterious(0)		20/27		Gene3D:3.50.50.60,hmmpanther:PTHR21178,hmmpanther:PTHR21178:SF8,Superfamily_domains:SSF51905											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs984625585	.												G	3	3	78	20251680	20251680	C	G	1	0	0	0	0	1	0	0	0	3028	644	23	4		4	CFAP61	20	20251680	Missense_Mutation	SNP	C	C3N-01415_TP	14949335	20251680	44192487	534	25820											
RALGAPA2	0	.	GRCh38	chr20	20620603	20620603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactacttttcttgttacagCtatctcacaggaaggcaaca	13	12	6	10	0	2	0	1	0	2	0	3	1	2	1	0	2	5	3	0	2	6	6	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1261G>T	p.Ala421Ser	p.A421S	ENST00000202677	11/40	127	118	9	154	154	0	strelka-varscan-mutect	RALGAPA2,missense_variant,p.Ala238Ser,ENST00000430436,;RALGAPA2,missense_variant,p.Ala421Ser,ENST00000202677,NM_020343.3;	A	ENST00000202677	Transcript	missense_variant	1269/6152	1261/5622	421/1873	A/S	Gct/Tct		1		-1	RALGAPA2	HGNC	HGNC:16207	protein_coding	YES	CCDS46584.1	ENSP00000202677	Q2PPJ7		UPI000040F987	NM_020343.3	tolerated(0.85)		11/40		hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	78	20620603	20620603	C	A	1	0	0	0	0	1	0	0	0	13173	797	28	2		2	RALGAPA2	20	20620603	Missense_Mutation	SNP	C	C3N-01415_TP	368923	20620603	43823564	535	25821											
PAX1	0	.	GRCh38	chr20	21708669	21708669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaatgggctagagaaacCtgccttagaggcagacatta	14	8	12	7	0	0	4	0	1	0	3	0	5	0	4	2	2	2	2	2	2	5	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1028C>A	p.Pro343His	p.P343H	ENST00000398485	3/5	768	598	170	716	716	0	strelka-varscan-mutect	PAX1,missense_variant,p.Pro343His,ENST00000613128,NM_001257096.1;PAX1,missense_variant,p.Pro343His,ENST00000398485,NM_006192.4;PAX1,missense_variant,p.Pro319His,ENST00000444366,;PAX1,non_coding_transcript_exon_variant,,ENST00000460221,;PAX1,non_coding_transcript_exon_variant,,ENST00000485038,;	A	ENST00000398485	Transcript	missense_variant	1082/2838	1028/1605	343/534	P/H	cCt/cAt		1		1	PAX1	HGNC	HGNC:8615	protein_coding	YES	CCDS13146.2	ENSP00000381499	P15863		UPI000179A786	NM_006192.4	deleterious_low_confidence(0)		3/5		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF262																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	78	21708669	21708669	C	A	1	0	0	0	0	1	0	0	0	11563	681	24	2		2	PAX1	20	21708669	Missense_Mutation	SNP	C	C3N-01415_TP	1088066	21708669	42735498	536	25822											
SYNDIG1	0	.	GRCh38	chr20	24543540	24543540	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaatccacaccctgtcctAcgatgtggaggaggaggagg	13	6	13	9	1	0	0	0	0	0	0	2	5	2	4	3	5	1	0	3	5	3	1	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.443A>T	p.Tyr148Phe	p.Y148F	ENST00000376862	2/4	168	128	40	168	167	1	strelka-varscan-mutect	SYNDIG1,missense_variant,p.Tyr148Phe,ENST00000376862,NM_024893.2;	T	ENST00000376862	Transcript	missense_variant	1076/2522	443/777	148/258	Y/F	tAc/tTc		1		1	SYNDIG1	HGNC	HGNC:15885	protein_coding	YES	CCDS13164.1	ENSP00000366058	Q9H7V2		UPI00001285DC	NM_024893.2	tolerated(0.08)		2/4		hmmpanther:PTHR14768,hmmpanther:PTHR14768:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	24543540	24543540	A	T	1	0	0	0	0	1	0	0	0	15835	391	14	4		4	SYNDIG1	20	24543540	Missense_Mutation	SNP	A	C3N-01415_TP	2834871	24543540	39900627	537	25823											
TM9SF4	0	.	GRCh38	chr20	32157905	32157905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccatatgacaaccctGtgcgcaccaaccagattccc	12	6	7	16	1	0	2	0	1	0	1	1	2	1	2	5	0	5	2	5	0	3	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1441G>T	p.Val481Leu	p.V481L	ENST00000398022	14/18	404	348	56	377	377	0	strelka-varscan-mutect	TM9SF4,missense_variant,p.Val464Leu,ENST00000217315,;TM9SF4,missense_variant,p.Val481Leu,ENST00000398022,NM_014742.3;TM9SF4,upstream_gene_variant,,ENST00000495749,;TM9SF4,upstream_gene_variant,,ENST00000479591,;	T	ENST00000398022	Transcript	missense_variant	1676/3978	1441/1929	481/642	V/L	Gtg/Ttg		1		1	TM9SF4	HGNC	HGNC:30797	protein_coding	YES	CCDS13196.2	ENSP00000381104	Q92544	A0A024QYR3	UPI0000206163	NM_014742.3	deleterious(0)		14/18		Pfam_domain:PF02990,hmmpanther:PTHR10766,hmmpanther:PTHR10766:SF55																	MODERATE	1	SNV	1			1										PASS		rs1315178656	.												T	3	4	78	32157905	32157905	G	T	1	0	0	0	0	1	0	0	0	16424	1377	48	2		2	TM9SF4	20	32157905	Missense_Mutation	SNP	G	C3N-01415_TP	7614365	32157905	32286262	538	25824											
ZNF335	0	.	GRCh38	chr20	45953749	45953749	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggtgctgtgatgacactgTagccagtcccaccaaatgga	10	8	13	10	0	0	2	0	2	0	0	1	3	1	3	3	3	2	2	3	3	2	1	novel		C3N-01415_TP	C3N-01415_NB	T	T																c.2642A>G	p.Tyr881Cys	p.Y881C	ENST00000322927	18/28	386	291	95	350	350	0	strelka-varscan-mutect	ZNF335,missense_variant,p.Tyr881Cys,ENST00000322927,NM_022095.3;	C	ENST00000322927	Transcript	missense_variant	2743/4430	2642/4029	881/1342	Y/C	tAc/tGc		1		-1	ZNF335	HGNC	HGNC:15807	protein_coding	YES	CCDS13389.1	ENSP00000325326	Q9H4Z2		UPI0000001BC3	NM_022095.3	deleterious(0.01)		18/28																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	45953749	45953749	T	C	1	0	0	0	0	1	0	0	0	18424	1638	57	5		5	ZNF335	20	45953749	Missense_Mutation	SNP	T	C3N-01415_TP	13795844	45953749	18490418	539	25825											
CDH22	0	.	GRCh38	chr20	46174991	46174991	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcgtcgttgtatttgaTgacgttgtcccgcatgtctt	4	17	10	10	4	1	2	0	2	1	0	4	2	2	2	2	0	0	4	2	0	1	6	rs773793973		C3N-01415_TP	C3N-01415_NB	T	T																c.2002A>G	p.Ile668Val	p.I668V	ENST00000537909	12/12	324	296	28	288	288	0	strelka-varscan-mutect	CDH22,missense_variant,p.Ile668Val,ENST00000537909,NM_021248.2;CDH22,missense_variant,p.Ile668Val,ENST00000372262,;RP5-998H6.2,upstream_gene_variant,,ENST00000450586,;	C	ENST00000537909	Transcript	missense_variant	2645/3902	2002/2487	668/828	I/V	Atc/Gtc	rs773793973	1		-1	CDH22	HGNC	HGNC:13251	protein_coding	YES	CCDS13395.1	ENSP00000437790	Q9UJ99		UPI0000126DC0	NM_021248.2	tolerated(1)		12/12		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF311,Pfam_domain:PF01049																	MODERATE	1	SNV	2			1										PASS		rs773793973	.												C	3	2	78	46174991	46174991	T	C	1	0	0	0	0	1	0	0	0	2810	1464	51	5		5	CDH22	20	46174991	Missense_Mutation	SNP	T	C3N-01415_TP	221242	46174991	18269176	540	25826											
NCOA3	0	.	GRCh38	chr20	47649047	47649047	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacttgaattgaaaatggaaAaccctactgctggtggtgct	12	11	10	8	0	0	2	0	2	0	0	0	3	0	3	1	3	4	2	1	3	6	3	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.3589A>T	p.Asn1197Tyr	p.N1197Y	ENST00000371998	19/23	188	169	19	188	188	0	strelka-varscan-mutect	NCOA3,missense_variant,p.Asn1197Tyr,ENST00000372004,NM_006534.3;NCOA3,missense_variant,p.Asn1192Tyr,ENST00000371997,NM_001174088.1;NCOA3,missense_variant,p.Asn1197Tyr,ENST00000371998,NM_001174087.1,NM_181659.2;	T	ENST00000371998	Transcript	missense_variant	3780/4668	3589/4275	1197/1424	N/Y	Aac/Tac		1		1	NCOA3	HGNC	HGNC:7670	protein_coding	YES	CCDS13407.1	ENSP00000361066	Q9Y6Q9		UPI000012FE45	NM_001174087.1,NM_181659.2	deleterious(0)		19/23		hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	47649047	47649047	A	T	1	0	0	0	0	1	0	0	0	10249	14	1	4		4	NCOA3	20	47649047	Missense_Mutation	SNP	A	C3N-01415_TP	1474056	47649047	16795120	541	25827											
KCNB1	0	.	GRCh38	chr20	49482274	49482274	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtcatcgcacacctcgagCagcgagtcgtgcgtgttgca	8	9	12	12	5	1	0	1	0	0	0	4	2	1	0	1	0	4	4	1	0	1	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.207G>T	p.=	p.L69L	ENST00000371741	1/2	160	139	21	165	165	0	strelka-varscan-mutect	KCNB1,synonymous_variant,p.=,ENST00000371741,NM_004975.2;KCNB1,synonymous_variant,p.=,ENST00000635465,;KCNB1,upstream_gene_variant,,ENST00000635878,;KCNB1,upstream_gene_variant,,ENST00000637357,;KCNB1,upstream_gene_variant,,ENST00000636950,;KCNB1,downstream_gene_variant,,ENST00000635809,;	A	ENST00000371741	Transcript	synonymous_variant	403/11879	207/2577	69/858	L	ctG/ctT		1		-1	KCNB1	HGNC	HGNC:6231	protein_coding	YES	CCDS13418.1	ENSP00000360806	Q14721		UPI000012DC80	NM_004975.2			1/2		hmmpanther:PTHR11537:SF134,hmmpanther:PTHR11537,Gene3D:3.30.710.10,Pfam_domain:PF02214,SMART_domains:SM00225,Superfamily_domains:SSF54695																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	49482274	49482274	C	A	1	0	0	0	0	0	0	0	1	7928	697	25	2		2	KCNB1	20	49482274	Silent	SNP	C	C3N-01415_TP	1833227	49482274	14961893	542	25828											
ZFP64	0	.	GRCh38	chr20	52160309	52160309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccgtgtggcaccgcatgtGagttttcagcttgtctttcc	4	14	11	12	2	2	1	1	1	1	0	3	1	3	1	3	1	1	4	3	1	0	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.577C>T	p.His193Tyr	p.H193Y	ENST00000216923	5/6	264	238	26	261	261	0	strelka-varscan-mutect	ZFP64,missense_variant,p.His193Tyr,ENST00000216923,NM_018197.2;ZFP64,missense_variant,p.His191Tyr,ENST00000371515,NM_199426.1;ZFP64,missense_variant,p.His139Tyr,ENST00000346617,NM_022088.4;ZFP64,missense_variant,p.His193Tyr,ENST00000361387,NM_199427.2;ZFP64,missense_variant,p.His193Tyr,ENST00000371518,;ZFP64,non_coding_transcript_exon_variant,,ENST00000477786,;ZFP64,non_coding_transcript_exon_variant,,ENST00000461898,;	A	ENST00000216923	Transcript	missense_variant	927/3264	577/2046	193/681	H/Y	Cac/Tac		1		-1	ZFP64	HGNC	HGNC:15940	protein_coding	YES	CCDS13440.1	ENSP00000216923	Q9NPA5		UPI000006D699	NM_018197.2	deleterious(0)		5/6		Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF41,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	52160309	52160309	G	A	1	0	0	0	0	1	0	0	0	18228	1290	45	3		3	ZFP64	20	52160309	Missense_Mutation	SNP	G	C3N-01415_TP	2678035	52160309	12283858	543	25829											
TSHZ2	0	.	GRCh38	chr20	53254426	53254426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaccccggctaagaaacGcgtttttgatgtcaatcggc	9	10	11	11	4	2	2	2	1	0	1	3	2	2	2	2	3	1	2	2	3	3	3	rs772219519		C3N-01415_TP	C3N-01415_NB	G	G																c.968G>T	p.Arg323Leu	p.R323L	ENST00000371497	2/3	124	90	34	172	171	1	strelka-varscan-mutect	TSHZ2,missense_variant,p.Arg323Leu,ENST00000371497,NM_173485.5;TSHZ2,missense_variant,p.Arg320Leu,ENST00000603338,NM_001193421.1;TSHZ2,missense_variant,p.Arg320Leu,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	T	ENST00000371497	Transcript	missense_variant	1855/12187	968/3105	323/1034	R/L	cGc/cTc	rs772219519,COSM5187566	1		1	TSHZ2	HGNC	HGNC:13010	protein_coding	YES	CCDS33490.1	ENSP00000360552	Q9NRE2		UPI0000206747	NM_173485.5	deleterious(0)		2/3		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF3											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs772219519	.												T	3	4	78	53254426	53254426	G	T	1	0	0	0	0	1	0	0	0	17129	1087	38	1		1	TSHZ2	20	53254426	Missense_Mutation	SNP	G	C3N-01415_TP	1094117	53254426	11189741	544	25830											
CASS4	0	.	GRCh38	chr20	56453034	56453034	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctccccaaagagaaactGaatcacaccaaaagagtacc	18	4	6	13	0	1	3	1	1	0	2	2	4	2	3	5	0	3	1	5	0	6	1	rs770674921		C3N-01415_TP	C3N-01415_NB	G	G																c.1858G>T	p.Glu620Ter	p.E620*	ENST00000360314	6/7	366	340	26	385	384	1	strelka-varscan-mutect	CASS4,stop_gained,p.Glu620Ter,ENST00000360314,NM_001164116.1,NM_020356.3,NM_001164114.1;CASS4,intron_variant,,ENST00000434344,NM_001164115.1;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;	T	ENST00000360314	Transcript	stop_gained	2083/2619	1858/2361	620/786	E/*	Gaa/Taa	rs770674921	1		1	CASS4	HGNC	HGNC:15878	protein_coding	YES	CCDS33492.1	ENSP00000353462	Q9NQ75		UPI00001285DB	NM_001164116.1,NM_020356.3,NM_001164114.1			6/7		hmmpanther:PTHR10654:SF19,hmmpanther:PTHR10654,Pfam_domain:PF12026																	HIGH	1	SNV	1			1										PASS		rs770674921	.												T	4	4	78	56453034	56453034	G	T	1	0	0	0	0	0	1	0	0	2382	1291	45	2		2	CASS4	20	56453034	Nonsense_Mutation	SNP	G	C3N-01415_TP	3198608	56453034	7991133	545	25831											
NPEPL1	0	.	GRCh38	chr20	58699276	58699276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgaagacgagaggatttgGaggtgggtgggggctgcatc	9	8	19	5	1	0	3	0	1	0	2	1	6	0	5	0	6	1	2	0	6	1	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.677G>T	p.Gly226Val	p.G226V	ENST00000356091	5/12	124	97	27	95	95	0	strelka-varscan-mutect	NPEPL1,missense_variant,p.Gly226Val,ENST00000356091,NM_024663.3;NPEPL1,missense_variant,p.Gly198Val,ENST00000525967,NM_001204872.1;NPEPL1,missense_variant,p.Gly178Val,ENST00000525817,NM_001204873.1;NPEPL1,missense_variant,p.Gly115Val,ENST00000533788,;NPEPL1,splice_region_variant,,ENST00000529976,;NPEPL1,splice_region_variant,,ENST00000527587,;STX16-NPEPL1,splice_region_variant,,ENST00000530122,;	T	ENST00000356091	Transcript	missense_variant,splice_region_variant	965/2378	677/1572	226/523	G/V	gGa/gTa		1		1	NPEPL1	HGNC	HGNC:16244	protein_coding	YES	CCDS46621.1	ENSP00000348395	Q8NDH3		UPI000036789E	NM_024663.3	deleterious(0)		5/12		hmmpanther:PTHR11963:SF4,hmmpanther:PTHR11963,Pfam_domain:PF00883,Gene3D:3.40.630.10,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	58699276	58699276	G	T	1	0	0	0	0	1	0	0	0	10622	1188	41	2		2	NPEPL1	20	58699276	Missense_Mutation	SNP	G	C3N-01415_TP	2246242	58699276	5744891	546	25832											
COL9A3	0	.	GRCh38	chr20	62828922	62828922	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaatctctgtcctcacaGggagaggctggtcgcaacgg	8	7	12	14	2	2	1	1	0	1	1	5	2	3	1	3	4	1	2	3	4	2	0	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.955-1G>T		p.X319_splice	ENST00000343916		394	354	40	387	387	0	strelka-varscan-mutect	COL9A3,splice_acceptor_variant,,ENST00000343916,NM_001853.3;COL9A3,downstream_gene_variant,,ENST00000452372,;COL9A3,splice_acceptor_variant,,ENST00000463487,;COL9A3,upstream_gene_variant,,ENST00000462700,;COL9A3,downstream_gene_variant,,ENST00000489045,;COL9A3,downstream_gene_variant,,ENST00000477612,;COL9A3,upstream_gene_variant,,ENST00000466192,;COL9A3,upstream_gene_variant,,ENST00000472880,;COL9A3,upstream_gene_variant,,ENST00000469852,;COL9A3,upstream_gene_variant,,ENST00000469802,;COL9A3,upstream_gene_variant,,ENST00000481800,;COL9A3,upstream_gene_variant,,ENST00000490398,;	T	ENST00000343916	Transcript	splice_acceptor_variant	-/2485	955/2055	319/684				1		1	COL9A3	HGNC	HGNC:2219	protein_coding	YES	CCDS13505.1	ENSP00000341640	Q14050		UPI0000126D51	NM_001853.3				18/31																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	78	62828922	62828922	G	T	1	0	0	0	0	0	0	1	0	3498	1014	35	2		2	COL9A3	20	62828922	Splice_Site	SNP	G	C3N-01415_TP	4129646	62828922	1615245	547	25833											
TPTE	0	.	GRCh38	chr21	10543353	10543353	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaagtgaatttaaaggAgcagcccgggtgtcacctat	13	8	10	10	1	1	1	1	1	0	0	1	2	1	2	2	2	2	1	2	2	5	3	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.144A>T	p.=	p.G48G	ENST00000618007	7/24	439	414	25	485	485	0	varscan-mutect	TPTE,synonymous_variant,p.=,ENST00000618007,NM_199261.3;TPTE,synonymous_variant,p.=,ENST00000612957,;TPTE,intron_variant,,ENST00000622113,NM_199259.3;TPTE,intron_variant,,ENST00000427445,NM_199260.3;TPTE,intron_variant,,ENST00000612746,NM_001290224.1;AL078471.5,intron_variant,,ENST00000612267,;	T	ENST00000618007	Transcript	synonymous_variant	474/2150	144/1656	48/551	G	ggA/ggT		1		1	TPTE	HGNC	HGNC:12023	protein_coding	YES	CCDS74771.1	ENSP00000484403	P56180		UPI000016A18A	NM_199261.3			7/24																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	78	10543353	10543353	A	T	1	0	0	0	0	0	0	0	1	16911	291	11	4		4	TPTE	21	10543353	Silent	SNP	A	C3N-01415_TP		10543353	36166630	548	25834											
IFNAR2	0	.	GRCh38	chr21	33263022	33263022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctctgccacctctacagaatCccagttgatagacccggagt	10	9	8	14	1	2	3	0	1	2	2	3	4	3	4	4	1	2	1	4	1	3	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1070C>T	p.Ser357Phe	p.S357F	ENST00000342136	9/9	291	231	60	323	323	0	strelka-varscan-mutect	IFNAR2,missense_variant,p.Ser357Phe,ENST00000342136,NM_001289125.1,NM_207585.2;IFNAR2,3_prime_UTR_variant,,ENST00000404220,;IFNAR2,3_prime_UTR_variant,,ENST00000342101,NM_001289126.1,NM_001289128.1;AP000295.9,intron_variant,,ENST00000433395,;IL10RB,upstream_gene_variant,,ENST00000290200,NM_000628.4;IFNAR2,downstream_gene_variant,,ENST00000382264,NM_207584.2,NM_000874.4;IFNAR2,downstream_gene_variant,,ENST00000443073,;IFNAR2,downstream_gene_variant,,ENST00000413881,;IL10RB-AS1,downstream_gene_variant,,ENST00000411998,;AP000295.9,intron_variant,,ENST00000432231,;IL10RB,upstream_gene_variant,,ENST00000493295,;IFNAR2,downstream_gene_variant,,ENST00000382238,;IL10RB,upstream_gene_variant,,ENST00000422891,;IFNAR2,downstream_gene_variant,,ENST00000417007,;	T	ENST00000342136	Transcript	missense_variant	1396/2899	1070/1548	357/515	S/F	tCc/tTc		1		1	IFNAR2	HGNC	HGNC:5433	protein_coding	YES	CCDS13621.1	ENSP00000343957	P48551		UPI000012D69B	NM_001289125.1,NM_207585.2	deleterious(0.05)		9/9		hmmpanther:PTHR20859:SF53,hmmpanther:PTHR20859																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	33263022	33263022	C	T	1	0	0	0	0	1	0	0	0	7445	855	30	3		3	IFNAR2	21	33263022	Missense_Mutation	SNP	C	C3N-01415_TP	22719669	33263022	13446961	549	25835											
DOPEY2	0	.	GRCh38	chr21	36239856	36239856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcgtgcgctctccctcGgggacgtggctcgcatcctc	2	10	14	15	5	1	0	0	0	1	0	6	1	2	1	2	4	2	3	2	4	0	0	rs748499096		C3N-01415_TP	C3N-01415_NB	G	G																c.2968G>T	p.Gly990Trp	p.G990W	ENST00000399151	18/37	202	165	37	216	215	1	strelka-varscan-mutect	DOPEY2,missense_variant,p.Gly990Trp,ENST00000399151,NM_001320714.1,NM_005128.3;	T	ENST00000399151	Transcript	missense_variant	3053/7685	2968/6897	990/2298	G/W	Ggg/Tgg	rs748499096	1		1	DOPEY2	HGNC	HGNC:1291	protein_coding	YES	CCDS13643.1	ENSP00000382104	Q9Y3R5		UPI000013D876	NM_001320714.1,NM_005128.3	deleterious(0.01)		18/37		hmmpanther:PTHR14042,hmmpanther:PTHR14042:SF23																	MODERATE	1	SNV	1			1										PASS		rs748499096	.												T	3	4	78	36239856	36239856	G	T	1	0	0	0	0	1	0	0	0	4522	1116	39	1		1	DOPEY2	21	36239856	Missense_Mutation	SNP	G	C3N-01415_TP	2976834	36239856	10470127	550	25836											
DSCAM	0	.	GRCh38	chr21	40013246	40013246	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccatcgggatgggctccaGgaccgtggggcgcttcaggg	5	8	17	11	3	1	0	1	0	0	0	4	2	3	2	3	6	0	2	3	6	0	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.5827C>G	p.Leu1943Val	p.L1943V	ENST00000400454	33/33	220	183	37	191	191	0	strelka-varscan-mutect	DSCAM,missense_variant,p.Leu1943Val,ENST00000400454,NM_001389.3,NM_001271534.1;DSCAM,missense_variant,p.Leu1778Val,ENST00000617870,;DSCAM,missense_variant,p.Leu1677Val,ENST00000404019,;	C	ENST00000400454	Transcript	missense_variant	6305/8552	5827/6039	1943/2012	L/V	Ctg/Gtg		1		-1	DSCAM	HGNC	HGNC:3039	protein_coding	YES	CCDS42929.1	ENSP00000383303	O60469		UPI00000422DF	NM_001389.3,NM_001271534.1	tolerated_low_confidence(0.08)		33/33		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	40013246	40013246	G	C	1	0	0	0	0	1	0	0	0	4589	991	35	4		4	DSCAM	21	40013246	Missense_Mutation	SNP	G	C3N-01415_TP	3773390	40013246	6696737	551	25837											
TFF2	0	.	GRCh38	chr21	42346547	42346547	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcttagtaatggcagtCtagaagtttaaatgcaagat	13	13	8	7	0	2	2	0	0	2	2	3	2	2	2	1	1	1	4	1	1	7	5	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.377-1G>T		p.X126_splice	ENST00000291526		135	121	14	164	164	0	strelka-varscan-mutect	TFF2,splice_acceptor_variant,,ENST00000291526,NM_005423.4;TFF2,splice_acceptor_variant,,ENST00000475297,;TFF2,splice_acceptor_variant,,ENST00000463771,;	A	ENST00000291526	Transcript	splice_acceptor_variant	-/737	377/390	126/129				1		-1	TFF2	HGNC	HGNC:11756	protein_coding	YES	CCDS13684.1	ENSP00000291526	Q03403		UPI0000001632	NM_005423.4				3/3																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	78	42346547	42346547	C	A	1	0	0	0	0	0	0	1	0	16237	927	32	2		2	TFF2	21	42346547	Splice_Site	SNP	C	C3N-01415_TP	2333301	42346547	4363436	552	25838											
POTEH	0	.	GRCh38	chr22	15690397	15690397	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggtgctgccactgcttccCctgctgcagggggagcggca	4	8	16	13	1	0	0	0	0	0	0	1	1	1	1	3	4	6	5	3	4	0	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.320C>G	p.Pro107Arg	p.P107R	ENST00000343518	1/11	988	918	70	1024	1022	2	varscan-mutect	POTEH,missense_variant,p.Pro107Arg,ENST00000343518,NM_001136213.1;POTEH,intron_variant,,ENST00000621704,;POTEH,missense_variant,p.Pro51Arg,ENST00000452800,;	G	ENST00000343518	Transcript	missense_variant	372/1928	320/1638	107/545	P/R	cCc/cGc		1		1	POTEH	HGNC	HGNC:133	protein_coding	YES	CCDS74808.1	ENSP00000340610	Q6S545		UPI0000E5A425	NM_001136213.1	deleterious_low_confidence(0)		1/11		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	78	15690397	15690397	C	G	1	0	0	0	0	1	0	0	0	12381	623	22	4		4	POTEH	22	15690397	Missense_Mutation	SNP	C	C3N-01415_TP		15690397	35128071	553	25839											
POTEH	0	.	GRCh38	chr22	15690456	15690456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagaccacgacgactctGctatgaagacactcaggagc	12	6	11	12	2	2	3	1	1	1	2	2	7	2	4	1	2	2	1	1	2	2	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.379G>T	p.Ala127Ser	p.A127S	ENST00000343518	1/11	458	373	85	419	419	0	strelka-varscan-mutect	POTEH,missense_variant,p.Ala127Ser,ENST00000343518,NM_001136213.1;POTEH,missense_variant,p.Ala90Ser,ENST00000621704,;POTEH,missense_variant,p.Ala71Ser,ENST00000452800,;	T	ENST00000343518	Transcript	missense_variant	431/1928	379/1638	127/545	A/S	Gct/Tct		1		1	POTEH	HGNC	HGNC:133	protein_coding	YES	CCDS74808.1	ENSP00000340610	Q6S545		UPI0000E5A425	NM_001136213.1	tolerated_low_confidence(0.12)		1/11		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	78	15690456	15690456	G	T	1	0	0	0	0	1	0	0	0	12381	1319	46	2		2	POTEH	22	15690456	Missense_Mutation	SNP	G	C3N-01415_TP	59	15690456	35128012	554	25840											
GAB4	0	.	GRCh38	chr22	16965257	16965257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgtttctcaggttgggcgGtgttgggttggctggagcag	3	14	19	5	1	1	0	1	0	1	0	2	1	1	1	0	6	1	7	0	6	0	5	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1300C>A	p.Pro434Thr	p.P434T	ENST00000400588	7/10	258	191	67	288	288	0	strelka-varscan-mutect	GAB4,missense_variant,p.Pro434Thr,ENST00000400588,NM_001037814.1;AC006548.28,non_coding_transcript_exon_variant,,ENST00000623130,;GAB4,downstream_gene_variant,,ENST00000523144,;GAB4,downstream_gene_variant,,ENST00000520505,;GAB4,3_prime_UTR_variant,,ENST00000465611,;	T	ENST00000400588	Transcript	missense_variant	1408/2630	1300/1725	434/574	P/T	Ccg/Acg		1		-1	GAB4	HGNC	HGNC:18325	protein_coding	YES	CCDS42976.1	ENSP00000383431	Q2WGN9		UPI00002326B5	NM_001037814.1	deleterious(0.03)		7/10		hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	16965257	16965257	G	T	1	0	0	0	0	1	0	0	0	6022	1261	44	2		2	GAB4	22	16965257	Missense_Mutation	SNP	G	C3N-01415_TP	1274801	16965257	33853211	555	25841											
CCDC188	0	.	GRCh38	chr22	20150175	20150175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgcagcttgagtgttcggGacacaggggcaggaactgct	9	8	16	8	1	0	1	0	1	0	0	1	3	0	3	0	4	4	5	0	4	1	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.595C>A	p.Pro199Thr	p.P199T	ENST00000439765	2/9	135	124	11	134	134	0	varscan-mutect	CCDC188,missense_variant,p.Pro199Thr,ENST00000439765,;ZDHHC8,downstream_gene_variant,,ENST00000334554,NM_013373.3;ZDHHC8,downstream_gene_variant,,ENST00000405930,NM_001185024.1;ZDHHC8,downstream_gene_variant,,ENST00000320602,;CCDC188,upstream_gene_variant,,ENST00000444532,;	T	ENST00000439765	Transcript	missense_variant	674/1475	595/1209	199/402	P/T	Ccc/Acc		1		-1	CCDC188	HGNC	HGNC:51899	protein_coding	YES		ENSP00000409542	H7C350		UPI000387C900		tolerated_low_confidence(0.34)		2/9		hmmpanther:PTHR22422:SF6,hmmpanther:PTHR22422																	MODERATE		SNV	5			1										PASS		rs1419351679	.												T	3	4	78	20150175	20150175	G	T	1	0	0	0	0	1	0	0	0	2503	1174	41	2		2	CCDC188	22	20150175	Missense_Mutation	SNP	G	C3N-01415_TP	3184918	20150175	30668293	556	25842											
P2RX6	0	.	GRCh38	chr22	21015999	21015999	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggaaccccagttttcCatcatcaccaaactcaaagg	13	8	6	14	0	3	0	3	0	0	0	4	2	4	1	5	2	2	1	5	2	3	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.222C>A	p.=	p.S74S	ENST00000413302	2/12	232	215	17	249	248	1	strelka-varscan-mutect	P2RX6,synonymous_variant,p.=,ENST00000413302,NM_005446.3;P2RX6,synonymous_variant,p.=,ENST00000401443,NM_001159554.1;P2RX6,non_coding_transcript_exon_variant,,ENST00000591411,;TUBA3FP,upstream_gene_variant,,ENST00000422086,;TUBA3FP,upstream_gene_variant,,ENST00000292748,;P2RX6,missense_variant,p.His69Asn,ENST00000432930,;P2RX6,synonymous_variant,p.=,ENST00000442475,;P2RX6,synonymous_variant,p.=,ENST00000422210,;P2RX6,synonymous_variant,p.=,ENST00000452228,;P2RX6,non_coding_transcript_exon_variant,,ENST00000469722,;	A	ENST00000413302	Transcript	synonymous_variant	370/3687	222/1326	74/441	S	tcC/tcA		1		1	P2RX6	HGNC	HGNC:8538	protein_coding	YES	CCDS13788.2	ENSP00000416193	O15547		UPI000013C698	NM_005446.3			2/12		Gene3D:3h9vA02,Pfam_domain:PF00864,PIRSF_domain:PIRSF005713,hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF21,TIGRFAM_domain:TIGR00863																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	21015999	21015999	C	A	1	0	0	0	0	0	0	0	1	11417	581	21	2		2	P2RX6	22	21015999	Silent	SNP	C	C3N-01415_TP	865824	21015999	29802469	557	25843											
GGT2	0	.	GRCh38	chr22	21208703	21208703	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggttgtagatgatggcCtggggcatgggagtgtgatc	8	10	18	5	0	0	4	0	2	0	2	1	5	0	5	1	5	0	3	1	5	1	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1450-1G>T		p.X484_splice	ENST00000401924		21	9	12	11	11	0	varscan-mutect	GGT2,splice_acceptor_variant,,ENST00000401924,;GGT2,splice_acceptor_variant,,ENST00000424627,;GGT2,splice_acceptor_variant,,ENST00000405188,;FAM230B,intron_variant,,ENST00000440315,;	A	ENST00000401924	Transcript	splice_acceptor_variant	-/2366	1450/1710	484/569				1		-1	GGT2	HGNC	HGNC:4251	protein_coding	YES		ENSP00000385721	P36268		UPI00004DE9E9					13/14																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	78	21208703	21208703	C	A	1	0	0	0	0	0	0	1	0	6238	695	24	2		2	GGT2	22	21208703	Splice_Site	SNP	C	C3N-01415_TP	192704	21208703	29609765	558	25844											
MYO18B	0	.	GRCh38	chr22	25903769	25903769	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctggaagttggaatccAgcgcccttgagcaacagaaa	12	7	12	10	1	1	2	0	1	1	1	2	4	2	4	2	3	3	3	2	3	4	2	novel		C3N-01415_TP	C3N-01415_NB	A	A																c.5086A>C	p.Ser1696Arg	p.S1696R	ENST00000335473	31/44	285	251	34	335	335	0	strelka-varscan-mutect	MYO18B,missense_variant,p.Ser1696Arg,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,missense_variant,p.Ser1697Arg,ENST00000407587,;MYO18B,missense_variant,p.Ser1696Arg,ENST00000536101,;CTA-125H2.2,upstream_gene_variant,,ENST00000453457,;CTA-125H2.2,upstream_gene_variant,,ENST00000600211,;CTA-125H2.2,upstream_gene_variant,,ENST00000609275,;CTA-125H2.2,upstream_gene_variant,,ENST00000597284,;CTA-125H2.2,upstream_gene_variant,,ENST00000609157,;CTA-125H2.2,upstream_gene_variant,,ENST00000608507,;CTA-125H2.2,upstream_gene_variant,,ENST00000595093,;CTA-125H2.2,upstream_gene_variant,,ENST00000608115,;CTA-125H2.2,upstream_gene_variant,,ENST00000597548,;CTA-125H2.2,upstream_gene_variant,,ENST00000594585,;CTA-125H2.2,upstream_gene_variant,,ENST00000595102,;CTA-125H2.2,upstream_gene_variant,,ENST00000599080,;CTA-125H2.2,upstream_gene_variant,,ENST00000594542,;CTA-125H2.2,upstream_gene_variant,,ENST00000609889,;CTA-125H2.2,upstream_gene_variant,,ENST00000600269,;CTA-125H2.2,upstream_gene_variant,,ENST00000609570,;CTA-125H2.2,upstream_gene_variant,,ENST00000608257,;CTA-125H2.2,upstream_gene_variant,,ENST00000599792,;CTA-125H2.2,upstream_gene_variant,,ENST00000609823,;CTA-125H2.2,upstream_gene_variant,,ENST00000607895,;MYO18B,non_coding_transcript_exon_variant,,ENST00000536204,;MYO18B,downstream_gene_variant,,ENST00000534908,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	C	ENST00000335473	Transcript	missense_variant	5336/8565	5086/7704	1696/2567	S/R	Agc/Cgc		1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5	tolerated(0.25)		31/44		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF372																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	25903769	25903769	A	C	1	0	0	0	0	1	0	0	0	10067	188	7	5		5	MYO18B	22	25903769	Missense_Mutation	SNP	A	C3N-01415_TP	4695066	25903769	24914699	559	25845											
DEPDC5	0	.	GRCh38	chr22	31845210	31845210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcttgaatcgcattcgcagGcggcatcgctcggatcgcat	7	9	13	12	6	0	1	0	1	0	0	5	2	0	2	0	4	0	6	0	4	1	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2994G>C	p.Arg998Ser	p.R998S	ENST00000400246	30/43	318	288	30	403	403	0	strelka-varscan-mutect	DEPDC5,missense_variant,p.Arg998Ser,ENST00000400246,NM_001242896.1;DEPDC5,missense_variant,p.Arg989Ser,ENST00000400249,;DEPDC5,missense_variant,p.Arg989Ser,ENST00000382112,NM_001136029.2;DEPDC5,missense_variant,p.Arg989Ser,ENST00000400248,NM_014662.4;DEPDC5,missense_variant,p.Arg998Ser,ENST00000382111,;DEPDC5,missense_variant,p.Arg920Ser,ENST00000535622,NM_001242897.1;DEPDC5,missense_variant,p.Arg396Ser,ENST00000433147,;DEPDC5,upstream_gene_variant,,ENST00000494060,;DEPDC5,missense_variant,p.Arg350Ser,ENST00000448753,;DEPDC5,downstream_gene_variant,,ENST00000490731,;DEPDC5,downstream_gene_variant,,ENST00000471914,;	C	ENST00000400246	Transcript	missense_variant	3196/5551	2994/4812	998/1603	R/S	agG/agC		1		1	DEPDC5	HGNC	HGNC:18423	protein_coding	YES	CCDS74849.1	ENSP00000383105	O75140		UPI000192C426	NM_001242896.1	deleterious(0.03)		30/43		Low_complexity_(Seg):seg,hmmpanther:PTHR13179																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	78	31845210	31845210	G	C	1	0	0	0	0	1	0	0	0	4248	1194	42	4		4	DEPDC5	22	31845210	Missense_Mutation	SNP	G	C3N-01415_TP	5941441	31845210	18973258	560	25846											
SYN3	0	.	GRCh38	chr22	32513809	32513809	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgtgctgaggctgttagtCagggactgagatttgctgaa	9	12	15	5	0	1	3	1	3	0	1	1	6	1	4	0	2	2	4	0	2	2	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1626G>C	p.=	p.L542L	ENST00000358763	14/14	160	149	11	171	171	0	strelka-varscan-mutect	SYN3,synonymous_variant,p.=,ENST00000358763,NM_001135774.1,NM_003490.3,NM_133633.2;SYN3,synonymous_variant,p.=,ENST00000332840,;SYN3,non_coding_transcript_exon_variant,,ENST00000467095,;SYN3,downstream_gene_variant,,ENST00000459990,;SYN3,downstream_gene_variant,,ENST00000468922,;SYN3,non_coding_transcript_exon_variant,,ENST00000483062,;SYN3,downstream_gene_variant,,ENST00000461446,;	G	ENST00000358763	Transcript	synonymous_variant	1869/3126	1626/1743	542/580	L	ctG/ctC		1		-1	SYN3	HGNC	HGNC:11496	protein_coding	YES	CCDS13908.1	ENSP00000351614	O14994	A0A024R1I8	UPI00001365D3	NM_001135774.1,NM_003490.3,NM_133633.2			14/14		Low_complexity_(Seg):seg,hmmpanther:PTHR10841																	LOW	1	SNV	5			1										PASS		rs1175943424	.												G	2	3	78	32513809	32513809	C	G	1	0	0	0	0	0	0	0	1	15832	813	29	4		4	SYN3	22	32513809	Silent	SNP	C	C3N-01415_TP	668599	32513809	18304659	561	25847											
APOBEC3H	0	.	GRCh38	chr22	39102010	39102010	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctagataaaaacagtCgagccataaagcgacggctt	16	6	11	8	3	0	1	0	0	0	1	1	4	0	2	1	2	4	2	1	2	6	4	rs200960035		C3N-01415_TP	C3N-01415_NB	C	C																c.511C>A	p.=	p.R171R	ENST00000401756	4/6	228	212	16	251	251	0	strelka-varscan-mutect	APOBEC3H,synonymous_variant,p.=,ENST00000348946,NM_001166002.2;APOBEC3H,synonymous_variant,p.=,ENST00000401756,NM_001166003.2;APOBEC3H,synonymous_variant,p.=,ENST00000442487,NM_181773.4;APOBEC3H,synonymous_variant,p.=,ENST00000613677,;APOBEC3H,intron_variant,,ENST00000421988,NM_001166004.2;APOBEC3H,intron_variant,,ENST00000613996,;APOBEC3H,downstream_gene_variant,,ENST00000474235,;	A	ENST00000401756	Transcript	synonymous_variant	587/1023	511/603	171/200	R	Cga/Aga	rs200960035	1		1	APOBEC3H	HGNC	HGNC:24100	protein_coding	YES	CCDS54530.1	ENSP00000385741	Q6NTF7		UPI000188E67A	NM_001166003.2			4/6		hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF25,Pfam_domain:PF08210																	LOW	1	SNV	3			1										PASS		rs200960035	.												A	2	1	78	39102010	39102010	C	A	1	0	0	0	0	0	0	0	1	916	876	31	1		1	APOBEC3H	22	39102010	Silent	SNP	C	C3N-01415_TP	6588201	39102010	11716458	562	25848											
FBLN1	0	.	GRCh38	chr22	45548620	45548620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccgttgcagacatcgaCgagtgcgccctgcccaccgg	6	8	12	15	5	0	1	0	0	0	1	1	3	0	1	4	1	4	2	4	1	0	2	rs553677396		C3N-01415_TP	C3N-01415_NB	C	C																c.1449C>A	p.Asp483Glu	p.D483E	ENST00000327858	13/17	254	194	60	288	288	0	strelka-varscan-mutect	FBLN1,missense_variant,p.Asp483Glu,ENST00000327858,NM_006486.2;FBLN1,missense_variant,p.Asp483Glu,ENST00000442170,NM_006485.3;FBLN1,missense_variant,p.Asp521Glu,ENST00000402984,;FBLN1,missense_variant,p.Asp483Glu,ENST00000340923,NM_006487.2;FBLN1,missense_variant,p.Asp483Glu,ENST00000262722,NM_001996.3;FBLN1,intron_variant,,ENST00000476366,;	A	ENST00000327858	Transcript	missense_variant	1544/2896	1449/2112	483/703	D/E	gaC/gaA	rs553677396	1		1	FBLN1	HGNC	HGNC:3600	protein_coding	YES	CCDS14067.1	ENSP00000331544	P23142		UPI00001AE84C	NM_006486.2	deleterious(0)		13/17		Gene3D:2.10.25.10,Pfam_domain:PF12662,PIRSF_domain:PIRSF036313,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF272,SMART_domains:SM00179,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		rs553677396	.												A	3	1	78	45548620	45548620	C	A	1	0	0	0	0	1	0	0	0	5561	535	19	1		1	FBLN1	22	45548620	Missense_Mutation	SNP	C	C3N-01415_TP	6446610	45548620	5269848	563	25849											
PLXNB2	0	.	GRCh38	chr22	50278691	50278691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgctgtggagcccggacGccactctgtgggaagagaca	8	6	15	12	3	1	1	0	0	1	1	1	5	1	4	2	3	2	1	2	3	1	0	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.4552C>T	p.Arg1518Cys	p.R1518C	ENST00000449103	29/37	274	245	29	267	267	0	strelka-varscan-mutect	PLXNB2,missense_variant,p.Arg1518Cys,ENST00000449103,;PLXNB2,missense_variant,p.Arg1518Cys,ENST00000359337,NM_012401.3;PLXNB2,missense_variant,p.Arg70Cys,ENST00000411680,;PLXNB2,synonymous_variant,p.=,ENST00000614805,;PLXNB2,5_prime_UTR_variant,,ENST00000610984,;PLXNB2,downstream_gene_variant,,ENST00000427829,;PLXNB2,downstream_gene_variant,,ENST00000496720,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000479701,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000463165,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000479818,;PLXNB2,downstream_gene_variant,,ENST00000492578,;	A	ENST00000449103	Transcript	missense_variant	4693/6383	4552/5517	1518/1838	R/C	Cgt/Tgt		1		-1	PLXNB2	HGNC	HGNC:9104	protein_coding	YES	CCDS43035.1	ENSP00000409171	O15031		UPI000003812D		deleterious(0)		29/37		hmmpanther:PTHR22625:SF9,hmmpanther:PTHR22625,Pfam_domain:PF08337,Gene3D:3.10.20.90																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	78	50278691	50278691	G	A	1	0	0	0	0	1	0	0	0	12230	1101	38	1		1	PLXNB2	22	50278691	Missense_Mutation	SNP	G	C3N-01415_TP	4730071	50278691	539777	564	25850											
SHANK3	0	.	GRCh38	chr22	50711627	50711627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attccaagcctccattcggaGaagaaaagggggtgagtcat	13	8	12	8	1	1	3	1	1	0	2	4	4	3	3	3	3	1	0	3	3	4	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.2120G>A	p.Arg707Lys	p.R707K	ENST00000262795	21/25	236	212	24	246	246	0	strelka-varscan-mutect	SHANK3,missense_variant,p.Arg707Lys,ENST00000262795,;SHANK3,missense_variant,p.Arg701Lys,ENST00000445220,NM_033517.1;SHANK3,non_coding_transcript_exon_variant,,ENST00000414786,;	A	ENST00000262795	Transcript	missense_variant	2120/7091	2120/5193	707/1730	R/K	aGa/aAa		1		1	SHANK3	HGNC	HGNC:14294	protein_coding	YES		ENSP00000489147		A0A0U1RQS4	UPI00071AFB18		tolerated(0.96)		21/25		hmmpanther:PTHR24135:SF4,hmmpanther:PTHR24135																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	78	50711627	50711627	G	A	1	0	0	0	0	1	0	0	0	14525	942	33	3		3	SHANK3	22	50711627	Missense_Mutation	SNP	G	C3N-01415_TP	432936	50711627	106841	565	25851											
PRKX	0	.	GRCh38	chrX	3713222	3713222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggagtcgctctccgccGcggccgcctgggccagcccg	2	5	16	18	7	1	0	0	0	1	0	3	1	1	1	6	3	2	1	6	3	0	0	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.32C>T	p.Ala11Val	p.A11V	ENST00000262848	1/9	42	36	6	48	48	0	strelka-varscan-mutect	PRKX,missense_variant,p.Ala11Val,ENST00000262848,NM_005044.4;RP11-558O12.1,upstream_gene_variant,,ENST00000329806,;	A	ENST00000262848	Transcript	missense_variant	387/6031	32/1077	11/358	A/V	gCg/gTg		1		-1	PRKX	HGNC	HGNC:9441	protein_coding	YES	CCDS14125.1	ENSP00000262848	P51817	A0A024RBU5	UPI000000D998	NM_005044.4	tolerated(0.25)		1/9		hmmpanther:PTHR24353,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	3713222	3713222	G	A	1	0	0	0	0	1	0	0	0	12659	1087	38	1		1	PRKX	23	3713222	Missense_Mutation	SNP	G	C3N-01415_TP		3713222	152327673	566	25852											
FRMPD4	0	.	GRCh38	chrX	12717838	12717838	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcctgaaactatggagacTaagtcggtcactgactattt	12	11	10	8	1	1	3	1	2	0	1	2	5	1	3	1	2	2	0	1	2	4	4	rs779754245		C3N-01415_TP	C3N-01415_NB	T	T																c.3012T>A	p.=	p.T1004T	ENST00000380682	16/17	159	114	45	213	213	0	strelka-varscan-mutect	FRMPD4,synonymous_variant,p.=,ENST00000380682,NM_014728.3;FRMPD4,synonymous_variant,p.=,ENST00000616992,;	A	ENST00000380682	Transcript	synonymous_variant	3518/8465	3012/3969	1004/1322	T	acT/acA	rs779754245	1		1	FRMPD4	HGNC	HGNC:29007	protein_coding	YES	CCDS35201.1	ENSP00000370057	Q14CM0		UPI00001C2066	NM_014728.3			16/17																			LOW	1	SNV	1			1										PASS		rs779754245	.												A	2	1	78	12717838	12717838	T	A	1	0	0	0	0	0	0	0	1	5930	1509	53	4		4	FRMPD4	23	12717838	Silent	SNP	T	C3N-01415_TP	9004616	12717838	143323057	567	25853											
WAS	0	.	GRCh38	chrX	48683879	48683879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggggcccaatgggaggaaGgcccgggggccgaggagcac	8	2	21	10	2	0	0	0	0	0	0	0	4	0	3	3	8	1	1	3	8	2	0	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.26G>A	p.Arg9Lys	p.R9K	ENST00000376701	1/12	147	103	44	138	138	0	strelka-varscan-mutect	WAS,missense_variant,p.Arg9Lys,ENST00000376701,NM_000377.2;WAS,missense_variant,p.Arg9Lys,ENST00000450772,;WAS,non_coding_transcript_exon_variant,,ENST00000483750,;WAS,non_coding_transcript_exon_variant,,ENST00000465982,;WAS,upstream_gene_variant,,ENST00000474174,;WAS,upstream_gene_variant,,ENST00000490627,;	A	ENST00000376701	Transcript	missense_variant	101/1849	26/1509	9/502	R/K	aGg/aAg		1		1	WAS	HGNC	HGNC:12731	protein_coding	YES	CCDS14303.1	ENSP00000365891	P42768	A0A024QYX8	UPI000003CA0A	NM_000377.2	tolerated_low_confidence(0.24)		1/12		Low_complexity_(Seg):seg,hmmpanther:PTHR23202,hmmpanther:PTHR23202:SF35																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	78	48683879	48683879	G	A	1	0	0	0	0	1	0	0	0	17811	1000	35	3		3	WAS	23	48683879	Missense_Mutation	SNP	G	C3N-01415_TP	35966041	48683879	107357016	568	25854											
AMER1	0	.	GRCh38	chrX	64191997	64191997	+	Silent	SNP	G	G	A																															atgtagccgtggtggcctggGgatgtggtgggatggtagcc																								novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1290C>T	p.=	p.S430S	ENST00000330258	2/2	230	215	15	168	168	0	strelka-varscan-mutect	AMER1,synonymous_variant,p.=,ENST00000330258,NM_152424.3;AMER1,synonymous_variant,p.=,ENST00000374869,;	A	ENST00000330258	Transcript	synonymous_variant	1563/8443	1290/3408	430/1135	S	tcC/tcT		1		-1	AMER1	HGNC	HGNC:26837	protein_coding	YES	CCDS14377.2	ENSP00000329117	Q5JTC6		UPI0000EDA0FC	NM_152424.3			2/2		hmmpanther:PTHR22237:SF0,hmmpanther:PTHR22237,Pfam_domain:PF09422																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	64191997	64191997	G	A	1	0	0	0	0	0	0	0	1	667	1219	43	3		3	AMER1	23	64191997	Silent	SNP	G	C3N-01415_TP	15508118	64191997	91848898	569	25855	551	2									
AMER1	0	.	GRCh38	chrX	64191998	64191998	+	Missense_Mutation	SNP	G	G	T																															tgtagccgtggtggcctgggGatgtggtgggatggtagccc																										C3N-01415_TP	C3N-01415_NB	G	G																c.1289C>A	p.Ser430Tyr	p.S430Y	ENST00000330258	2/2	233	217	16	172	172	0	strelka-varscan-mutect	AMER1,missense_variant,p.Ser430Tyr,ENST00000330258,NM_152424.3;AMER1,missense_variant,p.Ser430Tyr,ENST00000374869,;	T	ENST00000330258	Transcript	missense_variant	1562/8443	1289/3408	430/1135	S/Y	tCc/tAc	COSM255202	1		-1	AMER1	HGNC	HGNC:26837	protein_coding	YES	CCDS14377.2	ENSP00000329117	Q5JTC6		UPI0000EDA0FC	NM_152424.3	tolerated(0.18)		2/2		hmmpanther:PTHR22237:SF0,hmmpanther:PTHR22237,Pfam_domain:PF09422											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	78	64191998	64191998	G	T	1	0	0	0	0	1	0	0	0	667	1174	41	2		2	AMER1	23	64191998	Missense_Mutation	SNP	G	C3N-01415_TP	1	64191998	91848897	570	25856	551	2									
AWAT1	0	.	GRCh38	chrX	70239835	70239835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagttccagagctgcttcCgccgtatctttggtttctac	7	14	8	12	2	2	1	0	0	2	1	4	1	4	1	3	1	3	5	3	1	3	6	rs766687052		C3N-01415_TP	C3N-01415_NB	C	C																c.733C>A	p.Arg245Ser	p.R245S	ENST00000374521	6/7	381	184	197	298	298	0	strelka-varscan-mutect	AWAT1,missense_variant,p.Arg245Ser,ENST00000374521,NM_001013579.2;AWAT1,downstream_gene_variant,,ENST00000480702,;	A	ENST00000374521	Transcript	missense_variant	774/1365	733/987	245/328	R/S	Cgc/Agc	rs766687052	1		1	AWAT1	HGNC	HGNC:23252	protein_coding	YES	CCDS35321.1	ENSP00000363645	Q58HT5		UPI00002122D8	NM_001013579.2	deleterious(0.01)		6/7		hmmpanther:PTHR12317:SF16,hmmpanther:PTHR12317,Pfam_domain:PF03982																	MODERATE	1	SNV	1			1										PASS		rs766687052	.												A	3	1	78	70239835	70239835	C	A	1	0	0	0	0	1	0	0	0	1390	652	23	1		1	AWAT1	23	70239835	Missense_Mutation	SNP	C	C3N-01415_TP	6047837	70239835	85801060	571	25857											
NLGN3	0	.	GRCh38	chrX	71167278	71167278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagatcctcatggagcaggGcgagttcctcaactatgaca	11	9	11	10	1	2	2	2	2	0	1	4	5	4	3	2	2	2	2	2	2	2	2	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.1181G>T	p.Gly394Val	p.G394V	ENST00000358741	7/8	354	310	44	249	249	0	strelka-varscan-mutect	NLGN3,missense_variant,p.Gly374Val,ENST00000374051,NM_018977.3;NLGN3,missense_variant,p.Gly354Val,ENST00000536169,NM_001166660.1;NLGN3,missense_variant,p.Gly257Val,ENST00000612180,NM_001321276.1;NLGN3,missense_variant,p.Gly394Val,ENST00000358741,NM_181303.1;NLGN3,missense_variant,p.Gly354Val,ENST00000395855,;NLGN3,non_coding_transcript_exon_variant,,ENST00000476589,;	T	ENST00000358741	Transcript	missense_variant	1484/3046	1181/2547	394/848	G/V	gGc/gTc		1		1	NLGN3	HGNC	HGNC:14289	protein_coding	YES	CCDS55441.1	ENSP00000351591	Q9NZ94	X5DNV3	UPI000006FCBB	NM_181303.1	deleterious(0)		7/8		hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF145,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	78	71167278	71167278	G	T	1	0	0	0	0	1	0	0	0	10500	1203	42	2		2	NLGN3	23	71167278	Missense_Mutation	SNP	G	C3N-01415_TP	927443	71167278	84873617	572	25858											
PHKA1	0	.	GRCh38	chrX	72581099	72581099	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaacctgccactgggtGcactgtcatacagaagagta	12	8	10	11	0	1	2	1	0	0	2	1	2	1	2	3	1	5	2	3	1	4	2	rs782205805		C3N-01415_TP	C3N-01415_NB	G	G																c.3575C>G	p.Ala1192Gly	p.A1192G	ENST00000373542	32/32	210	166	44	201	201	0	strelka-varscan-mutect	PHKA1,missense_variant,p.Ala1150Gly,ENST00000373545,;PHKA1,missense_variant,p.Ala1179Gly,ENST00000339490,NM_001122670.1;PHKA1,missense_variant,p.Ala1192Gly,ENST00000373542,NM_002637.3;PHKA1,missense_variant,p.Ala1120Gly,ENST00000541944,NM_001172436.1;PHKA1,missense_variant,p.Ala1209Gly,ENST00000373539,;	C	ENST00000373542	Transcript	missense_variant	3735/6020	3575/3672	1192/1223	A/G	gCa/gGa	rs782205805	1		-1	PHKA1	HGNC	HGNC:8925	protein_coding	YES	CCDS14421.1	ENSP00000362643	P46020		UPI000013D340	NM_002637.3	deleterious(0)		32/32		hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF4																	MODERATE	1	SNV	1			1										PASS		rs782205805	.												C	3	2	78	72581099	72581099	G	C	1	0	0	0	0	1	0	0	0	11931	1319	46	4		4	PHKA1	23	72581099	Missense_Mutation	SNP	G	C3N-01415_TP	1413821	72581099	83459796	573	25859											
BRWD3	0	.	GRCh38	chrX	80676903	80676903	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctccctcttcccctcccCctagtgccacctccacctct	3	11	2	25	0	3	0	0	0	3	0	7	0	6	0	10	0	1	0	10	0	1	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.5115G>C	p.Arg1705Ser	p.R1705S	ENST00000373275	41/41	287	134	153	263	263	0	strelka-varscan-mutect	BRWD3,missense_variant,p.Arg1705Ser,ENST00000373275,NM_153252.4;BRWD3,downstream_gene_variant,,ENST00000473691,;	G	ENST00000373275	Transcript	missense_variant	5332/11381	5115/5409	1705/1802	R/S	agG/agC		1		-1	BRWD3	HGNC	HGNC:17342	protein_coding	YES	CCDS14447.1	ENSP00000362372	Q6RI45		UPI000045785B	NM_153252.4	deleterious_low_confidence(0)		41/41		Low_complexity_(Seg):seg,hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	78	80676903	80676903	C	G	1	0	0	0	0	1	0	0	0	1700	622	22	4		4	BRWD3	23	80676903	Missense_Mutation	SNP	C	C3N-01415_TP	8095804	80676903	75363992	574	25860											
CYLC1	0	.	GRCh38	chrX	83874204	83874204	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaaggacaagaaacactCaaaggaaaagaaaggttcaa	24	3	9	5	0	2	3	2	0	0	3	2	5	2	5	0	3	1	1	0	3	9	1	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1496C>G	p.Ser499Ter	p.S499*	ENST00000329312	4/5	208	98	110	180	179	1	strelka-varscan-mutect	CYLC1,stop_gained,p.Ser499Ter,ENST00000329312,NM_021118.2;CYLC1,intron_variant,,ENST00000621735,NM_001271680.1;	G	ENST00000329312	Transcript	stop_gained	1533/2106	1496/1956	499/651	S/*	tCa/tGa		1		1	CYLC1	HGNC	HGNC:2582	protein_coding	YES	CCDS35341.1	ENSP00000331556	P35663		UPI0000251E1D	NM_021118.2			4/5		Low_complexity_(Seg):seg,hmmpanther:PTHR16742,hmmpanther:PTHR16742:SF1																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	78	83874204	83874204	C	G	1	0	0	0	0	0	1	0	0	3944	838	29	4		4	CYLC1	23	83874204	Nonsense_Mutation	SNP	C	C3N-01415_TP	3197301	83874204	72166691	575	25861											
CYLC1	0	.	GRCh38	chrX	83886559	83886559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgctcctcagcctgaagCaccgtggattcataagctgc	8	11	9	13	1	2	1	2	1	0	0	3	2	3	2	3	1	5	3	3	1	2	3	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.1931C>T	p.Ala644Val	p.A644V	ENST00000329312	5/5	213	180	33	172	172	0	strelka-varscan-mutect	CYLC1,missense_variant,p.Ala644Val,ENST00000329312,NM_021118.2;CYLC1,missense_variant,p.Ala61Val,ENST00000621735,NM_001271680.1;	T	ENST00000329312	Transcript	missense_variant	1968/2106	1931/1956	644/651	A/V	gCa/gTa		1		1	CYLC1	HGNC	HGNC:2582	protein_coding	YES	CCDS35341.1	ENSP00000331556	P35663		UPI0000251E1D	NM_021118.2	tolerated(0.85)		5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR16742,hmmpanther:PTHR16742:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	78	83886559	83886559	C	T	1	0	0	0	0	1	0	0	0	3944	710	25	3		3	CYLC1	23	83886559	Missense_Mutation	SNP	C	C3N-01415_TP	12355	83886559	72154336	576	25862											
TGIF2LX	0	.	GRCh38	chrX	89922118	89922118	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggacggcccggctgagacCcaaagcccggtggaaaaaga	12	2	15	12	4	0	2	0	1	0	2	0	5	0	4	3	5	1	1	3	5	3	0	rs750966074		C3N-01415_TP	C3N-01415_NB	C	C																c.33C>T	p.=	p.T11T	ENST00000561129	1/1	370	317	53	279	279	0	strelka-varscan-mutect	TGIF2LX,synonymous_variant,p.=,ENST00000561129,;TGIF2LX,synonymous_variant,p.=,ENST00000283891,NM_138960.3;	T	ENST00000561129	Transcript	synonymous_variant	163/928	33/726	11/241	T	acC/acT	rs750966074	1		1	TGIF2LX	HGNC	HGNC:18570	protein_coding	YES	CCDS14459.1	ENSP00000453704	Q8IUE1		UPI0000074793				1/1																			LOW	1	SNV				1										PASS		rs750966074	.												T	2	4	78	89922118	89922118	C	T	1	0	0	0	0	0	0	0	1	16260	610	22	3		3	TGIF2LX	23	89922118	Silent	SNP	C	C3N-01415_TP	6035559	89922118	66118777	577	25863											
TSC22D3	0	.	GRCh38	chrX	107714639	107714639	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgccagggtcttcaacagGgtgttctcacgctctagctg	6	12	11	12	1	4	0	2	0	3	0	5	0	4	0	1	2	3	3	1	2	2	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.483C>A	p.=	p.T161T	ENST00000372383	3/3	254	95	159	258	256	2	strelka-varscan-mutect	TSC22D3,synonymous_variant,p.=,ENST00000372383,NM_198057.2;TSC22D3,synonymous_variant,p.=,ENST00000315660,NM_001318468.1;TSC22D3,synonymous_variant,p.=,ENST00000372384,NM_001318470.1;TSC22D3,synonymous_variant,p.=,ENST00000372397,NM_004089.3;TSC22D3,synonymous_variant,p.=,ENST00000372390,NM_001015881.1;TSC22D3,synonymous_variant,p.=,ENST00000372382,;TSC22D3,synonymous_variant,p.=,ENST00000506081,;TSC22D3,synonymous_variant,p.=,ENST00000514426,;TSC22D3,downstream_gene_variant,,ENST00000514897,;TSC22D3,downstream_gene_variant,,ENST00000510887,;TSC22D3,downstream_gene_variant,,ENST00000486554,;TSC22D3,downstream_gene_variant,,ENST00000502650,;TSC22D3,downstream_gene_variant,,ENST00000503515,;TSC22D3,downstream_gene_variant,,ENST00000480691,;	T	ENST00000372383	Transcript	synonymous_variant	851/2266	483/603	161/200	T	acC/acA		1		-1	TSC22D3	HGNC	HGNC:3051	protein_coding	YES	CCDS14530.1	ENSP00000361458	Q99576		UPI000006DE94	NM_198057.2			3/3		Superfamily_domains:0053404,Gene3D:1.20.5.490,Coiled-coils_(Ncoils):Coil,PD007152,Pfam_domain:PF01166,hmmpanther:PTHR12348																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	78	107714639	107714639	G	T	1	0	0	0	0	0	0	0	1	17115	1219	43	2		2	TSC22D3	23	107714639	Silent	SNP	G	C3N-01415_TP	17792521	107714639	48326256	578	25864											
ATP11C	0	.	GRCh38	chrX	139826746	139826746	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacaaaatctttgtgcaatGtaagcttctgtttccgaaac	12	14	6	9	1	3	0	1	0	2	0	4	1	4	0	1	0	3	4	1	0	5	4	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.114C>T	p.=	p.Y38Y	ENST00000327569	2/30	123	105	18	120	120	0	strelka-varscan-mutect	ATP11C,synonymous_variant,p.=,ENST00000370557,;ATP11C,synonymous_variant,p.=,ENST00000327569,NM_173694.4;ATP11C,synonymous_variant,p.=,ENST00000361648,NM_001010986.2;ATP11C,non_coding_transcript_exon_variant,,ENST00000485626,;	A	ENST00000327569	Transcript	synonymous_variant	213/6115	114/3399	38/1132	Y	taC/taT		1		-1	ATP11C	HGNC	HGNC:13554	protein_coding	YES	CCDS14668.1	ENSP00000332756	Q8NB49		UPI000036777E	NM_173694.4			2/30		hmmpanther:PTHR24092:SF38,hmmpanther:PTHR24092																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	78	139826746	139826746	G	A	1	0	0	0	0	0	0	0	1	1273	1372	48	3		3	ATP11C	23	139826746	Silent	SNP	G	C3N-01415_TP	32112107	139826746	16214149	579	25865											
ZNF275	0	.	GRCh38	chrX	153347764	153347764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtggcaaggccttccgtgGgccctctgacctcatcaagc	6	9	12	14	1	3	1	2	1	1	0	4	1	4	1	4	3	1	1	4	3	2	1	novel		C3N-01415_TP	C3N-01415_NB	G	G																c.981G>T	p.Trp327Cys	p.W327C	ENST00000370251	5/5	95	81	14	72	72	0	strelka-varscan-mutect	ZNF275,missense_variant,p.Trp327Cys,ENST00000370251,NM_001080485.3;ZNF275,missense_variant,p.Gly307Val,ENST00000370249,;ZNF275,upstream_gene_variant,,ENST00000438239,;	T	ENST00000370251	Transcript	missense_variant	1158/6320	981/990	327/329	W/C	tgG/tgT		1		1	ZNF275	HGNC	HGNC:13069	protein_coding	YES		ENSP00000359271		A6NFS0	UPI000059DBB5	NM_001080485.3			5/5																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	78	153347764	153347764	G	T	1	0	0	0	0	1	0	0	0	18386	1241	43	2		2	ZNF275	23	153347764	Missense_Mutation	SNP	G	C3N-01415_TP	13521018	153347764	2693131	580	25866											
F8A1	0	.	GRCh38	chrX	154887338	154887338	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggagctctttctgctgCtccagtctttggtcatggct	4	14	11	12	1	4	0	1	0	3	0	5	2	5	1	2	3	3	4	2	3	0	2	novel		C3N-01415_TP	C3N-01415_NB	C	C																c.964C>G	p.Leu322Val	p.L322V	ENST00000610495	1/1	154	134	20	116	116	0	varscan-mutect	F8A1,missense_variant,p.Leu322Val,ENST00000610495,NM_012151.3;F8,intron_variant,,ENST00000360256,NM_000132.3;F8,upstream_gene_variant,,ENST00000330287,NM_019863.2;H2AFB1,downstream_gene_variant,,ENST00000620016,NM_001017990.1;MIR1184-1,downstream_gene_variant,,ENST00000408606,;	G	ENST00000610495	Transcript	missense_variant	990/1713	964/1116	322/371	L/V	Ctc/Gtc		1		1	F8A1	HGNC	HGNC:3547	protein_coding	YES	CCDS35459.1	ENSP00000479624	P23610		UPI0000074369	NM_012151.3	deleterious(0)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR16797																	MODERATE		SNV				1										PASS		.	.												G	3	3	78	154887338	154887338	C	G	1	0	0	0	0	1	0	0	0	5219	797	28	4		4	F8A1	23	154887338	Missense_Mutation	SNP	C	C3N-01415_TP	1539574	154887338	1153557	581	25867											
PCDH11Y	0	.	GRCh38	chrY	5100050	5100050	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcaaaagcattgaagcAccagtgaccccaaatactga	15	6	9	11	1	0	3	0	3	0	0	0	3	0	3	3	0	4	3	3	0	5	2			C3N-01415_TP	C3N-01415_NB	A	A																c.2472A>T	p.=	p.A824A	ENST00000362095	2/3	311	192	119	385	385	0	strelka-varscan-mutect	PCDH11Y,synonymous_variant,p.=,ENST00000400457,NM_032973.2;PCDH11Y,synonymous_variant,p.=,ENST00000622698,NM_001278619.1;PCDH11Y,synonymous_variant,p.=,ENST00000333703,NM_032971.2;PCDH11Y,synonymous_variant,p.=,ENST00000215473,;PCDH11Y,synonymous_variant,p.=,ENST00000362095,NM_032972.2;	T	ENST00000362095	Transcript	synonymous_variant	3206/4220	2472/3147	824/1048	A	gcA/gcT	COSM5504806,COSM5504807,COSM5504808	1		1	PCDH11Y	HGNC	HGNC:15813	protein_coding	YES	CCDS14777.1	ENSP00000355419	Q9BZA8		UPI000006EF4D	NM_032972.2			2/3		Pfam_domain:PF08374,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF25											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												T	2	4	78	5100050	5100050	A	T	1	0	0	0	0	0	0	0	1	11596	146	6	4		4	PCDH11Y	24	5100050	Silent	SNP	A	C3N-01415_TP		5100050	52127365	582	25868											
PRAMEF11	0	.	GRCh38	chr1	12824987	12824987	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcataaaatgacctgtcGccatggtcagggcagttgtc	10	10	12	9	1	2	1	2	1	0	0	4	1	2	1	2	3	0	2	2	3	2	2	rs758547297		C3N-01416_TP	C3N-01416_NB	G	G																c.1392C>T	p.=	p.G464G	ENST00000619922	4/4	255	234	21	375	374	1	varscan-mutect	PRAMEF11,synonymous_variant,p.=,ENST00000619922,NM_001146344.2;RP5-845O24.8,upstream_gene_variant,,ENST00000438401,;	A	ENST00000619922	Transcript	synonymous_variant	1463/1845	1392/1437	464/478	G	ggC/ggT	rs758547297,COSM894918	1		-1	PRAMEF11	HGNC	HGNC:14086	protein_coding	YES	CCDS53268.2	ENSP00000480027		A0A087WW85	UPI0003EAF149	NM_001146344.2			4/4		hmmpanther:PTHR14224:SF19,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286											0,1						LOW	1	SNV	1		0,1	1										PASS		rs758547297	.												A	2	1	79	12824987	12824987	G	A	1	0	0	0	0	0	0	0	1	12556	1074	38	1		1	PRAMEF11	1	12824987	Silent	SNP	G	C3N-01416_TP		12824987	236131435	1	25869											
CLCA4	0	.	GRCh38	chr1	86580241	86580241	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactcctactcctactcctActcctgataaaagtcataat	12	13	2	14	0	1	1	1	1	0	0	5	1	5	1	4	0	4	0	4	0	7	6	rs80137678		C3N-01416_TP	C3N-01416_NB	A	A																c.2656A>G	p.Thr886Ala	p.T886A	ENST00000370563	14/14	95	90	5	186	185	1	varscan-mutect	CLCA4,missense_variant,p.Thr886Ala,ENST00000370563,NM_012128.3;RP4-651E10.4,intron_variant,,ENST00000456587,;	G	ENST00000370563	Transcript	missense_variant	2698/3211	2656/2760	886/919	T/A	Act/Gct	rs80137678	1		1	CLCA4	HGNC	HGNC:2018	protein_coding	YES	CCDS41355.1	ENSP00000359594	Q14CN2		UPI00000389E8	NM_012128.3	tolerated(0.83)		14/14		Low_complexity_(Seg):seg,Pfam_domain:PF08434																	MODERATE	1	SNV	1			1										PASS		rs80137678	.												G	3	3	79	86580241	86580241	A	G	1	0	0	0	0	1	0	0	0	3223	391	14	5		5	CLCA4	1	86580241	Missense_Mutation	SNP	A	C3N-01416_TP	73755254	86580241	162376181	2	25870											
KIRREL	0	.	GRCh38	chr1	158078124	158078124	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcgctctcggcgggcCaaactcaccgtgctcagtaa	7	7	11	16	4	3	0	2	0	1	0	4	0	3	0	3	2	3	3	3	2	2	1	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.336C>T	p.=	p.A112A	ENST00000359209	3/15	161	121	40	140	140	0	strelka-varscan-mutect	KIRREL,synonymous_variant,p.=,ENST00000360089,;KIRREL,synonymous_variant,p.=,ENST00000359209,NM_018240.6;KIRREL,intron_variant,,ENST00000368173,NM_001286349.1;	T	ENST00000359209	Transcript	synonymous_variant	403/2874	336/2274	112/757	A	gcC/gcT		1		1	KIRREL	HGNC	HGNC:15734	protein_coding	YES	CCDS1172.2	ENSP00000352138	Q96J84		UPI0000443FBD	NM_018240.6			3/15		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF14,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	79	158078124	158078124	C	T	1	0	0	0	0	0	0	0	1	8188	581	21	3		3	KIRREL	1	158078124	Silent	SNP	C	C3N-01416_TP	71497883	158078124	90878298	3	25871											
ADAMTS4	0	.	GRCh38	chr1	161193727	161193727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaccattccgggggacagGcctcgtgcagtctcgggagg	6	6	16	13	3	1	0	0	0	1	0	4	2	2	2	4	5	1	1	4	5	0	1	novel		C3N-01416_TP	C3N-01416_NB	G	G																c.1648C>A	p.Pro550Thr	p.P550T	ENST00000367996	6/9	167	154	13	181	181	0	strelka-varscan-mutect	ADAMTS4,missense_variant,p.Pro550Thr,ENST00000367996,NM_005099.4;ADAMTS4,downstream_gene_variant,,ENST00000367995,;NDUFS2,upstream_gene_variant,,ENST00000496133,;NDUFS2,upstream_gene_variant,,ENST00000479948,;ADAMTS4,downstream_gene_variant,,ENST00000478394,;	T	ENST00000367996	Transcript	missense_variant	2077/9773	1648/2514	550/837	P/T	Cct/Act		1		-1	ADAMTS4	HGNC	HGNC:220	protein_coding	YES	CCDS1223.1	ENSP00000356975	O75173		UPI000014194C	NM_005099.4	deleterious(0)		6/9		PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF38,hmmpanther:PTHR13723,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	79	161193727	161193727	G	T	1	0	0	0	0	1	0	0	0	312	1203	42	2		2	ADAMTS4	1	161193727	Missense_Mutation	SNP	G	C3N-01416_TP	3115603	161193727	87762695	4	25872											
KIFAP3	0	.	GRCh38	chr1	169954089	169954089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaaatcgggacttatggctCcttcagaggcaattaatcca	13	10	9	9	1	1	2	1	0	0	2	4	3	3	3	2	3	0	2	2	3	4	3	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.2195G>A	p.Gly732Glu	p.G732E	ENST00000361580	19/20	229	210	19	275	275	0	strelka-varscan-mutect	KIFAP3,missense_variant,p.Gly692Glu,ENST00000367765,NM_001204517.1;KIFAP3,missense_variant,p.Gly654Glu,ENST00000538366,NM_001204514.1;KIFAP3,missense_variant,p.Gly732Glu,ENST00000361580,NM_014970.3;KIFAP3,missense_variant,p.Gly688Glu,ENST00000367767,NM_001204516.1;RN7SL269P,downstream_gene_variant,,ENST00000467795,;	T	ENST00000361580	Transcript	missense_variant	2423/2957	2195/2379	732/792	G/E	gGa/gAa		1		-1	KIFAP3	HGNC	HGNC:17060	protein_coding	YES	CCDS1288.1	ENSP00000354560	Q92845		UPI000006CD6C	NM_014970.3	tolerated(0.26)		19/20		hmmpanther:PTHR15605																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	79	169954089	169954089	C	T	1	0	0	0	0	1	0	0	0	8176	855	30	3		3	KIFAP3	1	169954089	Missense_Mutation	SNP	C	C3N-01416_TP	8760362	169954089	79002333	5	25873											
TRMT1L	0	.	GRCh38	chr1	185137712	185137712	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgctgaagtaggtcccctCaaaactctcacaactaccaa	13	9	5	14	0	3	1	2	1	2	0	5	1	4	1	3	1	4	2	3	1	7	2	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.1407G>C	p.Leu469Phe	p.L469F	ENST00000367506	10/15	258	244	14	250	250	0	strelka-varscan-mutect	TRMT1L,missense_variant,p.Leu469Phe,ENST00000367506,NM_030934.4,NM_001202423.1;TRMT1L,missense_variant,p.Leu93Phe,ENST00000458395,;	G	ENST00000367506	Transcript	missense_variant	1676/4392	1407/2202	469/733	L/F	ttG/ttC		1		-1	TRMT1L	HGNC	HGNC:16782	protein_coding	YES	CCDS1366.1	ENSP00000356476	Q7Z2T5		UPI000000DADB	NM_030934.4,NM_001202423.1	tolerated(0.05)		10/15		Pfam_domain:PF02005,PROSITE_profiles:PS51626,hmmpanther:PTHR10631,hmmpanther:PTHR10631:SF1,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	79	185137712	185137712	C	G	1	0	0	0	0	1	0	0	0	17068	825	29	4		4	TRMT1L	1	185137712	Missense_Mutation	SNP	C	C3N-01416_TP	15183623	185137712	63818710	6	25874											
PRG4	0	.	GRCh38	chr1	186307723	186307723	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcctgctcccaccacTcccaaggcagcggctcccaa	9	4	10	18	1	0	0	0	0	0	0	3	2	3	1	5	3	3	3	5	3	2	0	novel		C3N-01416_TP	C3N-01416_NB	T	T																c.2004T>C	p.=	p.T668T	ENST00000445192	7/13	262	245	17	299	294	5	strelka-mutect	PRG4,synonymous_variant,p.=,ENST00000445192,NM_005807.4;PRG4,synonymous_variant,p.=,ENST00000367483,NM_001127708.2;PRG4,synonymous_variant,p.=,ENST00000635041,NM_001303232.1;PRG4,synonymous_variant,p.=,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,synonymous_variant,p.=,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	C	ENST00000445192	Transcript	synonymous_variant	2049/5044	2004/4215	668/1404	T	acT/acC		1		1	PRG4	HGNC	HGNC:9364	protein_coding	YES	CCDS1369.1	ENSP00000399679	Q92954		UPI0004620CBB	NM_005807.4			7/13		Low_complexity_(Seg):seg,hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1																	LOW		SNV	5			1										PASS		rs1157327525	.												C	2	2	79	186307723	186307723	T	C	1	0	0	0	0	0	0	0	1	12615	1538	54	5		5	PRG4	1	186307723	Silent	SNP	T	C3N-01416_TP	1170011	186307723	62648699	7	25875											
ADCY3	0	.	GRCh38	chr2	24834894	24834894	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggtcagccaggtcctgcaGgcgcagcctccggcgtgggt	4	7	16	14	4	1	0	1	0	0	0	4	0	3	0	4	5	3	2	4	5	0	0			C3N-01416_TP	C3N-01416_NB	G	G																c.1705C>T	p.=	p.L569L	ENST00000260600	9/21	138	109	29	174	174	0	strelka-varscan-mutect	ADCY3,synonymous_variant,p.=,ENST00000260600,NM_004036.3;ADCY3,synonymous_variant,p.=,ENST00000405392,NM_001320613.1;ADCY3,synonymous_variant,p.=,ENST00000606682,;ADCY3,downstream_gene_variant,,ENST00000435135,;ADCY3,downstream_gene_variant,,ENST00000427849,;ADCY3,upstream_gene_variant,,ENST00000455323,;ADCY3,upstream_gene_variant,,ENST00000450524,;ADCY3,downstream_gene_variant,,ENST00000454027,;	A	ENST00000260600	Transcript	synonymous_variant	2557/5050	1705/3435	569/1144	L	Ctg/Ttg	COSM5265969	1		-1	ADCY3	HGNC	HGNC:234	protein_coding	YES	CCDS1715.1	ENSP00000260600	O60266		UPI000013D0ED	NM_004036.3			9/21		Low_complexity_(Seg):seg,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF291,PIRSF_domain:PIRSF039050											1						LOW	1	SNV	1		1	1										PASS		rs1327311702	.												A	2	1	79	24834894	24834894	G	A	1	0	0	0	0	0	0	0	1	339	991	35	3		3	ADCY3	2	24834894	Silent	SNP	G	C3N-01416_TP		24834894	217358635	8	25876											
EPT1	0	.	GRCh38	chr2	26386464	26386464	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctaggagtagcctcttaCgttgagagcattctcctgta	10	12	9	10	1	2	1	0	1	2	1	3	3	2	2	3	1	4	4	3	1	5	6	rs749959444		C3N-01416_TP	C3N-01416_NB	C	C																c.1023C>A	p.Tyr341Ter	p.Y341*	ENST00000260585	9/10	155	133	22	296	296	0	strelka-varscan-mutect	EPT1,stop_gained,p.Tyr341Ter,ENST00000613142,;EPT1,stop_gained,p.Tyr341Ter,ENST00000260585,NM_033505.2;EPT1,downstream_gene_variant,,ENST00000447170,;	A	ENST00000260585	Transcript	stop_gained	1142/8101	1023/1194	341/397	Y/*	taC/taA	rs749959444	1		1	EPT1	HGNC	HGNC:29361	protein_coding	YES	CCDS46240.1	ENSP00000260585	Q9C0D9		UPI00003CE422	NM_033505.2			9/10		PIRSF_domain:PIRSF015665,hmmpanther:PTHR10414,hmmpanther:PTHR10414:SF47																	HIGH	1	SNV	1			1										PASS		rs749959444	.												A	4	1	79	26386464	26386464	C	A	1	0	0	0	0	0	1	0	0	5047	547	19	1		1	EPT1	2	26386464	Nonsense_Mutation	SNP	C	C3N-01416_TP	1551570	26386464	215807065	9	25877											
LOXL3	0	.	GRCh38	chr2	74549414	74549414	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcgctggggaagcccagcAtcccgcagaccacgtggctg	7	7	13	14	3	0	1	0	0	0	1	2	2	1	2	3	3	2	4	3	3	1	1	novel		C3N-01416_TP	C3N-01416_NB	A	A																c.647T>A	p.Met216Lys	p.M216K	ENST00000264094	4/14	104	85	19	157	157	0	strelka-varscan	LOXL3,missense_variant,p.Met216Lys,ENST00000264094,NM_032603.3;LOXL3,missense_variant,p.Met216Lys,ENST00000409549,;LOXL3,missense_variant,p.Met216Lys,ENST00000409249,;LOXL3,missense_variant,p.Met216Lys,ENST00000413469,;LOXL3,missense_variant,p.Asp16Glu,ENST00000420535,;LOXL3,intron_variant,,ENST00000393937,NM_001289164.1;LOXL3,intron_variant,,ENST00000409986,;DOK1,intron_variant,,ENST00000409429,NM_001197260.1;DOK1,upstream_gene_variant,,ENST00000233668,NM_001318866.1,NM_001381.3;DOK1,splice_region_variant,,ENST00000485132,;LOXL3,non_coding_transcript_exon_variant,,ENST00000484369,;LOXL3,non_coding_transcript_exon_variant,,ENST00000481835,;DOK1,upstream_gene_variant,,ENST00000488613,;LOXL3,non_coding_transcript_exon_variant,,ENST00000470907,;	T	ENST00000264094	Transcript	missense_variant	719/3502	647/2262	216/753	M/K	aTg/aAg		1		-1	LOXL3	HGNC	HGNC:13869	protein_coding	YES	CCDS1953.1	ENSP00000264094	P58215		UPI0000044959	NM_032603.3	deleterious(0)		4/14		Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF305,SMART_domains:SM00202,Superfamily_domains:SSF56487																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	79	74549414	74549414	A	T	1	0	0	0	0	1	0	0	0	8804	217	8	4		4	LOXL3	2	74549414	Missense_Mutation	SNP	A	C3N-01416_TP	48162950	74549414	167644115	10	25878											
ZAP70	0	.	GRCh38	chr2	97725095	97725095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcctctccttttctagggcGaggccctggagcaggccatc	5	9	12	15	2	2	0	0	0	2	0	4	2	2	1	4	4	1	1	4	4	1	3			C3N-01416_TP	C3N-01416_NB	G	G																c.406G>A	p.Glu136Lys	p.E136K	ENST00000264972	4/14	292	269	23	350	349	1	strelka-varscan	ZAP70,missense_variant,p.Glu136Lys,ENST00000264972,NM_001079.3;ZAP70,non_coding_transcript_exon_variant,,ENST00000463643,;ZAP70,non_coding_transcript_exon_variant,,ENST00000483781,;	A	ENST00000264972	Transcript	missense_variant	621/2437	406/1860	136/619	E/K	Gag/Aag	COSM3584184	1		1	ZAP70	HGNC	HGNC:12858	protein_coding	YES	CCDS33254.1	ENSP00000264972	P43403		UPI000013C370	NM_001079.3	tolerated(0.14)		4/14		Gene3D:2oq1A02,PIRSF_domain:PIRSF000604,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF262											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	79	97725095	97725095	G	A	1	0	0	0	0	1	0	0	0	18075	1072	37	1		1	ZAP70	2	97725095	Missense_Mutation	SNP	G	C3N-01416_TP	23175681	97725095	144468434	11	25879											
TTN	0	.	GRCh38	chr2	178560056	178560056	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccagtcagtgtcatcagaTtttttgtattctacagtata	10	18	6	7	0	4	1	3	0	1	1	5	1	5	1	1	0	1	2	1	0	4	9	novel		C3N-01416_TP	C3N-01416_NB	T	T																c.86076A>G	p.=	p.K28692K	ENST00000589042	326/363	265	228	37	372	372	0	strelka-varscan	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.4;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.3,downstream_gene_variant,,ENST00000624360,;	C	ENST00000589042	Transcript	synonymous_variant	86301/109224	86076/107976	28692/35991	K	aaA/aaG		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			326/363		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW		SNV	5			1										PASS		.	.												C	2	2	79	178560056	178560056	T	C	1	0	0	0	0	0	0	0	1	17245	1490	52	5		5	TTN	2	178560056	Silent	SNP	T	C3N-01416_TP	80834961	178560056	63633473	12	25880											
ZNF804A	0	.	GRCh38	chr2	184936720	184936720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttcttcagtggccatcaGaaatgctggtttatacaact	11	13	8	9	0	3	1	2	0	1	1	3	1	3	1	1	2	3	3	1	2	4	5	novel		C3N-01416_TP	C3N-01416_NB	G	G																c.1324G>A	p.Glu442Lys	p.E442K	ENST00000302277	4/4	116	109	7	164	163	1	strelka-varscan	ZNF804A,missense_variant,p.Glu442Lys,ENST00000302277,NM_194250.1;ZNF804A,missense_variant,p.Glu357Lys,ENST00000613975,;	A	ENST00000302277	Transcript	missense_variant	1918/4690	1324/3630	442/1209	E/K	Gaa/Aaa		1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1	deleterious(0.01)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	79	184936720	184936720	G	A	1	0	0	0	0	1	0	0	0	18755	943	33	3		3	ZNF804A	2	184936720	Missense_Mutation	SNP	G	C3N-01416_TP	6376664	184936720	57256809	13	25881											
UNC80	0	.	GRCh38	chr2	209937528	209937528	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctttatgtaatccacacaGacctatgttcgagatattta	12	15	5	9	1	1	2	0	0	1	2	3	3	2	2	2	0	0	2	2	0	5	8	novel		C3N-01416_TP	C3N-01416_NB	G	G																c.6166-1G>A		p.X2056_splice	ENST00000439458		106	97	9	191	191	0	strelka-varscan	UNC80,splice_acceptor_variant,,ENST00000439458,NM_032504.1;UNC80,splice_acceptor_variant,,ENST00000272845,NM_182587.3;UNC80,splice_acceptor_variant,,ENST00000489023,;	A	ENST00000439458	Transcript	splice_acceptor_variant	-/13562	6166/9777	2056/3258				1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1				40/63																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	79	209937528	209937528	G	A	1	0	0	0	0	0	0	1	0	17521	956	33	3		3	UNC80	2	209937528	Splice_Site	SNP	G	C3N-01416_TP	25000808	209937528	32256001	14	25882											
PLCD4	0	.	GRCh38	chr2	218634619	218634619	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccctttcaaagcccagactCtcttaatccaggtacagtgg	10	10	8	13	0	2	1	1	0	1	1	4	1	3	1	3	2	2	1	3	2	3	3	rs558899268		C3N-01416_TP	C3N-01416_NB	C	C																c.1885C>G	p.Leu629Val	p.L629V	ENST00000450993	13/16	115	106	9	103	103	0	strelka-varscan-mutect	PLCD4,missense_variant,p.Leu629Val,ENST00000450993,NM_032726.3;PLCD4,missense_variant,p.Leu661Val,ENST00000432688,;PLCD4,missense_variant,p.Leu629Val,ENST00000417849,;ZNF142,downstream_gene_variant,,ENST00000411696,;ZNF142,downstream_gene_variant,,ENST00000449707,NM_001105537.2;PLCD4,upstream_gene_variant,,ENST00000457773,;RP11-548H3.1,upstream_gene_variant,,ENST00000607946,;PLCD4,non_coding_transcript_exon_variant,,ENST00000459791,;PLCD4,non_coding_transcript_exon_variant,,ENST00000473443,;PLCD4,non_coding_transcript_exon_variant,,ENST00000483685,;PLCD4,non_coding_transcript_exon_variant,,ENST00000484718,;ZNF142,downstream_gene_variant,,ENST00000450765,;ZNF142,downstream_gene_variant,,ENST00000433921,;PLCD4,downstream_gene_variant,,ENST00000465713,;PLCD4,downstream_gene_variant,,ENST00000497482,;PLCD4,downstream_gene_variant,,ENST00000458239,;	G	ENST00000450993	Transcript	missense_variant	2224/3232	1885/2289	629/762	L/V	Ctc/Gtc	rs558899268	1		1	PLCD4	HGNC	HGNC:9062	protein_coding	YES	CCDS46516.1	ENSP00000388631	Q9BRC7		UPI0000044279	NM_032726.3	deleterious(0.01)		13/16		PROSITE_profiles:PS50004,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF31,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		rs558899268	.												G	3	3	79	218634619	218634619	C	G	1	0	0	0	0	1	0	0	0	12127	913	32	4		4	PLCD4	2	218634619	Missense_Mutation	SNP	C	C3N-01416_TP	8697091	218634619	23558910	15	25883											
STT3B	0	.	GRCh38	chr3	31623735	31623735	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagagggattaggccctaAtataaaaagcattgtcacca	16	9	9	7	0	1	2	1	1	0	1	1	3	1	3	2	2	1	1	2	2	7	5	novel		C3N-01416_TP	C3N-01416_NB	A	A																c.1601A>T	p.Asn534Ile	p.N534I	ENST00000295770	11/16	86	75	11	186	186	0	strelka-varscan-mutect	STT3B,missense_variant,p.Asn534Ile,ENST00000295770,NM_178862.2;STT3B,downstream_gene_variant,,ENST00000453168,;STT3B,downstream_gene_variant,,ENST00000423527,;STT3B,upstream_gene_variant,,ENST00000463044,;STT3B,downstream_gene_variant,,ENST00000436236,;	T	ENST00000295770	Transcript	missense_variant	1810/4248	1601/2481	534/826	N/I	aAt/aTt		1		1	STT3B	HGNC	HGNC:30611	protein_coding	YES	CCDS2650.1	ENSP00000295770	Q8TCJ2		UPI000006D7FB	NM_178862.2	tolerated(0.16)		11/16		hmmpanther:PTHR13872,hmmpanther:PTHR13872:SF25,Pfam_domain:PF02516																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	79	31623735	31623735	A	T	1	0	0	0	0	1	0	0	0	15717	101	4	4		4	STT3B	3	31623735	Missense_Mutation	SNP	A	C3N-01416_TP		31623735	166671824	16	25884											
CACNA1D	0	.	GRCh38	chr3	53726982	53726989	+	Frame_Shift_Del	DEL	TCTTCATT	TCTTCATT	-																															ctgcatctacttcatcatccTcttcatttgtggtaactgta																								novel		C3N-01416_TP	C3N-01416_NB	TCTTCATT	TCTTCATT																c.2265_2272delCTTCATTT	p.Phe756TrpfsTer2	p.F756Wfs*2	ENST00000288139	16/49	283	268	15	464	464	0	varindel-pindel	CACNA1D,frameshift_variant,p.Phe756TrpfsTer2,ENST00000288139,NM_000720.3;CACNA1D,frameshift_variant,p.Phe736TrpfsTer2,ENST00000350061,NM_001128840.2;CACNA1D,frameshift_variant,p.Phe736TrpfsTer2,ENST00000636938,;CACNA1D,frameshift_variant,p.Phe760TrpfsTer2,ENST00000637424,;CACNA1D,frameshift_variant,p.Phe736TrpfsTer2,ENST00000636570,;CACNA1D,frameshift_variant,p.Phe736TrpfsTer2,ENST00000422281,NM_001128839.2;CACNA1D,frameshift_variant,p.Phe429TrpfsTer2,ENST00000481478,;CACNA1D,frameshift_variant,p.Phe503TrpfsTer2,ENST00000636627,;CACNA1D,upstream_gene_variant,,ENST00000637714,;CACNA1D,downstream_gene_variant,,ENST00000481085,;CACNA1D,upstream_gene_variant,,ENST00000636138,;CACNA1D,upstream_gene_variant,,ENST00000637078,;	-	ENST00000288139	Transcript	frameshift_variant	2732-2739/9341	2264-2271/6546	755-757/2181	LFI/X	cTCTTCATT/c		1		1	CACNA1D	HGNC	HGNC:1391	protein_coding	YES	CCDS2872.1	ENSP00000288139	Q01668		UPI000005031A	NM_000720.3			16/49		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF139,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	79	53726982	53726982	TCTTCATT	-	1	0	1	0	1	0	0	0	0	2229	1551	54	0		0	CACNA1D	3	53726982	Frame_Shift_Del	DEL	TCTTCATT	C3N-01416_TP	22103247	53726982	144568577	17	25885											
PRSS48	0	.	GRCh38	chr4	151282286	151282286	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggcagacgtcgccttgttGaaactgtcctctcaagtcac	9	10	9	13	3	2	2	2	1	1	1	5	2	3	2	2	1	1	2	2	1	2	2	novel		C3N-01416_TP	C3N-01416_NB	G	G																c.354G>A	p.=	p.L118L	ENST00000455694	3/5	290	270	20	453	453	0	strelka-varscan	PRSS48,synonymous_variant,p.=,ENST00000455694,NM_183375.2;SH3D19,intron_variant,,ENST00000604030,;PRSS48,intron_variant,,ENST00000441586,;RP11-731D1.3,upstream_gene_variant,,ENST00000507181,;	A	ENST00000455694	Transcript	synonymous_variant	356/989	354/987	118/328	L	ttG/ttA		1		1	PRSS48	HGNC	HGNC:24635	protein_coding	YES	CCDS47145.1	ENSP00000401328	Q7RTY5	A0A140VJJ1	UPI0000047B08	NM_183375.2			3/5		Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF120,SMART_domains:SM00020,Superfamily_domains:SSF50494																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	79	151282286	151282286	G	A	1	0	0	0	0	0	0	0	1	12778	1281	45	3		3	PRSS48	4	151282286	Silent	SNP	G	C3N-01416_TP		151282286	38932269	18	25886											
C5orf42	0	.	GRCh38	chr5	37153979	37153979	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctttgaatcggaactCtggttttggcagacctaaat	9	14	9	9	1	1	2	0	1	1	1	3	3	2	3	2	3	1	2	2	3	4	4	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.7972G>T	p.Glu2658Ter	p.E2658*	ENST00000425232	41/52	81	66	15	120	120	0	strelka-varscan-mutect	C5orf42,stop_gained,p.Glu2658Ter,ENST00000425232,NM_023073.3;C5orf42,stop_gained,p.Glu2658Ter,ENST00000508244,;C5orf42,stop_gained,p.Glu1724Ter,ENST00000514429,;C5orf42,stop_gained,p.Glu417Ter,ENST00000511824,;C5orf42,non_coding_transcript_exon_variant,,ENST00000511210,;C5orf42,upstream_gene_variant,,ENST00000508405,;C5orf42,stop_gained,p.Glu1716Ter,ENST00000509849,;C5orf42,non_coding_transcript_exon_variant,,ENST00000509957,;C5orf42,non_coding_transcript_exon_variant,,ENST00000515380,;C5orf42,downstream_gene_variant,,ENST00000510830,;	A	ENST00000425232	Transcript	stop_gained	8203/11199	7972/9594	2658/3197	E/*	Gag/Tag		1		-1	C5orf42	HGNC	HGNC:25801	protein_coding	YES	CCDS34146.2	ENSP00000389014	Q9H799		UPI0001AAB3EA	NM_023073.3			41/52		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF3																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	79	37153979	37153979	C	A	1	0	0	0	0	0	1	0	0	2100	922	32	2		2	C5orf42	5	37153979	Nonsense_Mutation	SNP	C	C3N-01416_TP		37153979	144384280	19	25887											
PPIP5K2	0	.	GRCh38	chr5	103201607	103201607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagaaacgcatgaacaCaaaaaaaacactgggaaaaa	26	2	6	7	1	0	2	0	1	0	1	0	3	0	3	0	1	4	1	0	1	10	0	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.3810C>A	p.His1270Gln	p.H1270Q	ENST00000627916	32/32	135	128	7	248	246	2	varscan-mutect	PPIP5K2,missense_variant,p.His1214Gln,ENST00000321521,;PPIP5K2,missense_variant,p.His1270Gln,ENST00000627916,NM_001281471.1;PPIP5K2,missense_variant,p.His1214Gln,ENST00000414217,NM_015216.3;PPIP5K2,missense_variant,p.His1235Gln,ENST00000358359,NM_001276277.1;PPIP5K2,missense_variant,p.His1270Gln,ENST00000613674,;PPIP5K2,missense_variant,p.His390Gln,ENST00000509597,;PPIP5K2,missense_variant,p.His355Gln,ENST00000613907,;PPIP5K2,downstream_gene_variant,,ENST00000511022,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000504083,;	A	ENST00000627916	Transcript	missense_variant	4094/6010	3810/3837	1270/1278	H/Q	caC/caA		1		1	PPIP5K2	HGNC	HGNC:29035	protein_coding	YES	CCDS75283.1	ENSP00000486357		A0A087WZV0	UPI0002840889	NM_001281471.1	tolerated_low_confidence(0.55)		32/32		hmmpanther:PTHR12750:SF10,hmmpanther:PTHR12750																	MODERATE	1	SNV	5			1										PASS		rs201392612	.												A	3	1	79	103201607	103201607	C	A	1	0	0	0	0	1	0	0	0	12443	477	17	2		2	PPIP5K2	5	103201607	Missense_Mutation	SNP	C	C3N-01416_TP	66047628	103201607	78336652	20	25888											
PCDHA3	0	.	GRCh38	chr5	140802293	140802293	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattagaagactctccacttAgcacagtcatcgctctgatc	11	12	6	12	1	3	3	1	1	2	2	6	3	3	3	1	0	1	2	1	0	4	3	novel		C3N-01416_TP	C3N-01416_NB	A	A																c.1096A>T	p.Ser366Cys	p.S366C	ENST00000522353	1/4	340	279	61	512	512	0	strelka-varscan-mutect	PCDHA3,missense_variant,p.Ser366Cys,ENST00000522353,NM_018906.2;PCDHA3,missense_variant,p.Ser366Cys,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA4,upstream_gene_variant,,ENST00000618834,NM_031500.2;PCDHA4,upstream_gene_variant,,ENST00000530339,NM_018907.3;PCDHA4,upstream_gene_variant,,ENST00000512229,;PCDHA2,downstream_gene_variant,,ENST00000378132,NM_031495.1;PCDHA4,upstream_gene_variant,,ENST00000378125,;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,upstream_gene_variant,,ENST00000624176,;	T	ENST00000522353	Transcript	missense_variant	1096/5260	1096/2853	366/950	S/C	Agc/Tgc		1		1	PCDHA3	HGNC	HGNC:8669	protein_coding	YES	CCDS54915.1	ENSP00000429808	Q9Y5H8		UPI00001273CB	NM_018906.2	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	79	140802293	140802293	A	T	1	0	0	0	0	1	0	0	0	11612	420	15	4		4	PCDHA3	5	140802293	Missense_Mutation	SNP	A	C3N-01416_TP	37600686	140802293	40735966	21	25889											
FCHSD1	0	.	GRCh38	chr5	141651021	141651021	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggttgggggagctaccTgatgtcctccagcagatccg	7	8	16	10	1	0	2	0	1	0	1	3	3	3	3	4	4	3	3	4	4	1	2	novel		C3N-01416_TP	C3N-01416_NB	T	T																c.118A>G	p.Arg40Gly	p.R40G	ENST00000435817	2/20	149	127	22	233	233	0	strelka-varscan-mutect	FCHSD1,missense_variant,p.Arg40Gly,ENST00000435817,NM_033449.2;FCHSD1,missense_variant,p.Arg40Gly,ENST00000522783,;FCHSD1,missense_variant,p.Arg40Gly,ENST00000519800,;ARAP3,downstream_gene_variant,,ENST00000239440,NM_022481.5;ARAP3,downstream_gene_variant,,ENST00000626478,;ARAP3,downstream_gene_variant,,ENST00000508305,;ARAP3,downstream_gene_variant,,ENST00000513878,;FCHSD1,upstream_gene_variant,,ENST00000518499,;FCHSD1,upstream_gene_variant,,ENST00000523856,;ARAP3,downstream_gene_variant,,ENST00000512390,;FCHSD1,upstream_gene_variant,,ENST00000522386,;FCHSD1,upstream_gene_variant,,ENST00000522763,;FCHSD1,splice_region_variant,,ENST00000522126,;	C	ENST00000435817	Transcript	missense_variant,splice_region_variant	169/4320	118/2073	40/690	R/G	Aga/Gga		1		-1	FCHSD1	HGNC	HGNC:25463	protein_coding	YES	CCDS47295.1	ENSP00000399259	Q86WN1		UPI000000D903	NM_033449.2	deleterious(0)		2/20		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51741,hmmpanther:PTHR15735:SF4,hmmpanther:PTHR15735,Pfam_domain:PF00611,SMART_domains:SM00055,Superfamily_domains:SSF103657																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	79	141651021	141651021	T	C	1	0	0	0	0	1	0	0	0	5651	1594	55	5		5	FCHSD1	5	141651021	Missense_Mutation	SNP	T	C3N-01416_TP	848728	141651021	39887238	22	25890											
ZFP57	0	.	GRCh38	chr6	29672890	29672890	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtagttgggcggctctgtGaggtgggccttctggtgtct	3	13	17	8	1	3	1	0	1	3	0	3	1	3	1	1	5	0	3	1	5	1	3	novel		C3N-01416_TP	C3N-01416_NB	G	G																c.1221C>G	p.=	p.L407L	ENST00000488757	4/4	596	541	55	735	735	0	strelka-varscan-mutect	ZFP57,synonymous_variant,p.=,ENST00000376883,;ZFP57,synonymous_variant,p.=,ENST00000488757,NM_001109809.2;ZFP57,synonymous_variant,p.=,ENST00000376881,;MOG,downstream_gene_variant,,ENST00000376894,;MOG,downstream_gene_variant,,ENST00000376917,NM_206809.3;MOG,downstream_gene_variant,,ENST00000431798,NM_206812.3;MOG,downstream_gene_variant,,ENST00000376888,NM_206814.5;MOG,downstream_gene_variant,,ENST00000376898,NM_002433.4;MOG,downstream_gene_variant,,ENST00000494692,NM_206811.3;MOG,downstream_gene_variant,,ENST00000396701,NM_206810.3;MOG,downstream_gene_variant,,ENST00000376891,NM_001008229.2;MOG,downstream_gene_variant,,ENST00000396704,NM_001008228.2;MOG,downstream_gene_variant,,ENST00000416766,;MOG,downstream_gene_variant,,ENST00000490427,NM_001170418.1;MOG,downstream_gene_variant,,ENST00000483013,;MOG,downstream_gene_variant,,ENST00000376889,;MOG,downstream_gene_variant,,ENST00000485211,;MOG,downstream_gene_variant,,ENST00000485885,;	C	ENST00000488757	Transcript	synonymous_variant	1372/1870	1221/1611	407/536	L	ctC/ctG		1		-1	ZFP57	HGNC	HGNC:18791	protein_coding	YES	CCDS43436.2	ENSP00000418259	Q9NU63		UPI0001951170	NM_001109809.2			4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF179,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	79	29672890	29672890	G	C	1	0	0	0	0	0	0	0	1	18226	1277	45	4		4	ZFP57	6	29672890	Silent	SNP	G	C3N-01416_TP		29672890	141133089	23	25891											
ZFP57	0	.	GRCh38	chr6	29672975	29672975	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacagaagacattgagtcttGagggcttcactggatgagag	13	9	13	6	0	2	5	1	3	1	3	2	7	2	6	0	2	1	1	0	2	2	3	rs781584552		C3N-01416_TP	C3N-01416_NB	G	G																c.1136C>G	p.Ser379Ter	p.S379*	ENST00000488757	4/4	569	503	66	713	713	0	strelka-varscan-mutect	ZFP57,stop_gained,p.Ser359Ter,ENST00000376883,;ZFP57,stop_gained,p.Ser379Ter,ENST00000488757,NM_001109809.2;ZFP57,stop_gained,p.Ser295Ter,ENST00000376881,;MOG,downstream_gene_variant,,ENST00000376894,;MOG,downstream_gene_variant,,ENST00000376917,NM_206809.3;MOG,downstream_gene_variant,,ENST00000431798,NM_206812.3;MOG,downstream_gene_variant,,ENST00000376888,NM_206814.5;MOG,downstream_gene_variant,,ENST00000376898,NM_002433.4;MOG,downstream_gene_variant,,ENST00000494692,NM_206811.3;MOG,downstream_gene_variant,,ENST00000396701,NM_206810.3;MOG,downstream_gene_variant,,ENST00000376891,NM_001008229.2;MOG,downstream_gene_variant,,ENST00000396704,NM_001008228.2;MOG,downstream_gene_variant,,ENST00000416766,;MOG,downstream_gene_variant,,ENST00000490427,NM_001170418.1;MOG,downstream_gene_variant,,ENST00000483013,;MOG,downstream_gene_variant,,ENST00000376889,;MOG,downstream_gene_variant,,ENST00000485211,;MOG,downstream_gene_variant,,ENST00000485885,;	C	ENST00000488757	Transcript	stop_gained	1287/1870	1136/1611	379/536	S/*	tCa/tGa	rs781584552	1		-1	ZFP57	HGNC	HGNC:18791	protein_coding	YES	CCDS43436.2	ENSP00000418259	Q9NU63		UPI0001951170	NM_001109809.2			4/4																			HIGH	1	SNV	1			1										PASS		rs781584552	.												C	4	2	79	29672975	29672975	G	C	1	0	0	0	0	0	1	0	0	18226	1294	45	4		4	ZFP57	6	29672975	Nonsense_Mutation	SNP	G	C3N-01416_TP	85	29672975	141133004	24	25892											
MDC1	0	.	GRCh38	chr6	30704857	30704857	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaactgtttcaggggtcttCacagaggacctatttgtcct	9	13	9	10	0	3	1	2	0	1	1	4	2	4	2	2	3	1	1	2	3	2	4	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.4326G>C	p.=	p.V1442V	ENST00000376406	10/15	63	59	4	123	122	1	varscan-mutect	MDC1,synonymous_variant,p.=,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000489540,;MDC1,downstream_gene_variant,,ENST00000492462,;	G	ENST00000376406	Transcript	synonymous_variant	4974/7576	4326/6270	1442/2089	V	gtG/gtC		1		-1	MDC1	HGNC	HGNC:21163	protein_coding	YES	CCDS34384.1	ENSP00000365588	Q14676		UPI00001AF453	NM_014641.2			10/15																			LOW		SNV	5			1										PASS		rs1289767030	.												G	2	3	79	30704857	30704857	C	G	1	0	0	0	0	0	0	0	1	9341	813	29	4		4	MDC1	6	30704857	Silent	SNP	C	C3N-01416_TP	1031882	30704857	140101122	25	25893											
BAK1	0	.	GRCh38	chr6	33575377	33575377	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatggtctggaactctgAgtcatagcgtcggttgatgt	9	12	12	8	2	3	2	1	2	2	0	4	3	3	3	0	3	3	1	0	3	3	2	novel		C3N-01416_TP	C3N-01416_NB	A	A																c.271T>C	p.Ser91Pro	p.S91P	ENST00000374467	4/6	330	283	47	399	398	1	strelka-varscan	BAK1,missense_variant,p.Ser91Pro,ENST00000442998,;BAK1,missense_variant,p.Ser91Pro,ENST00000374467,NM_001188.3;BAK1,missense_variant,p.Ser71Pro,ENST00000360661,;GGNBP1,non_coding_transcript_exon_variant,,ENST00000612409,;	G	ENST00000374467	Transcript	missense_variant	520/2136	271/636	91/211	S/P	Tca/Cca		1		-1	BAK1	HGNC	HGNC:949	protein_coding	YES	CCDS4781.1	ENSP00000363591	Q16611	A0A0S2Z391	UPI0000126777	NM_001188.3	tolerated(0.31)		4/6		Gene3D:1.10.437.10,Pfam_domain:PF00452,PROSITE_profiles:PS50062,hmmpanther:PTHR11256,hmmpanther:PTHR11256:SF41,SMART_domains:SM00337,Superfamily_domains:SSF56854																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	79	33575377	33575377	A	G	1	0	0	0	0	1	0	0	0	1457	304	11	5		5	BAK1	6	33575377	Missense_Mutation	SNP	A	C3N-01416_TP	2870520	33575377	137230602	26	25894											
MOCS1	0	.	GRCh38	chr6	39934298	39934298	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggggtgggctcacctcCgaggcagctcgcgcggactc	5	5	17	14	5	1	0	1	0	0	0	4	2	2	1	2	6	1	3	2	6	0	0	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.120G>A	p.=	p.S40S	ENST00000373188	1/11	82	77	5	130	129	1	strelka-varscan	MOCS1,synonymous_variant,p.=,ENST00000373188,NM_001075098.3;MOCS1,synonymous_variant,p.=,ENST00000340692,;MOCS1,5_prime_UTR_variant,,ENST00000373195,;MOCS1,synonymous_variant,p.=,ENST00000487924,;MOCS1,non_coding_transcript_exon_variant,,ENST00000473742,;MOCS1,upstream_gene_variant,,ENST00000373181,;	T	ENST00000373188	Transcript	synonymous_variant	254/3358	120/1158	40/385	S	tcG/tcA		1		-1	MOCS1	HGNC	HGNC:7190	protein_coding		CCDS43460.1	ENSP00000362284	Q9NZB8	A0A024RD17	UPI000013DA31	NM_001075098.3			1/11		Low_complexity_(Seg):seg,hmmpanther:PTHR22960:SF0,hmmpanther:PTHR22960																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	79	39934298	39934298	C	T	1	0	0	0	0	0	0	0	1	9653	666	23	1		1	MOCS1	6	39934298	Silent	SNP	C	C3N-01416_TP	6358921	39934298	130871681	27	25895											
DST	0	.	GRCh38	chr6	56648601	56648601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggattattaggaaatgttCtctcagacattgtggtcaca	12	13	9	7	0	3	1	2	0	1	1	4	3	3	3	0	3	0	1	0	3	3	4	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.1010G>C	p.Arg337Thr	p.R337T	ENST00000312431	10/95	134	124	10	167	167	0	strelka-varscan	DST,missense_variant,p.Arg297Thr,ENST00000361203,;DST,missense_variant,p.Arg297Thr,ENST00000421834,NM_183380.3;DST,missense_variant,p.Arg337Thr,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,missense_variant,p.Arg297Thr,ENST00000370788,;DST,missense_variant,p.Arg337Thr,ENST00000520645,;DST,missense_variant,p.Arg475Thr,ENST00000449297,;DST,non_coding_transcript_exon_variant,,ENST00000521104,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;	G	ENST00000312431	Transcript	missense_variant	1136/17756	1010/16614	337/5537	R/T	aGa/aCa		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1	tolerated(0.06)		10/95		hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Superfamily_domains:SSF46966																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	79	56648601	56648601	C	G	1	0	0	0	0	1	0	0	0	4604	913	32	4		4	DST	6	56648601	Missense_Mutation	SNP	C	C3N-01416_TP	16714303	56648601	114157378	28	25896											
AIM1	0	.	GRCh38	chr6	106520809	106520809	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacagagcgtcctcttcAagtccctgcacaccaacact	11	8	6	16	1	2	2	1	1	1	1	4	2	4	2	3	0	4	1	3	0	3	1	novel		C3N-01416_TP	C3N-01416_NB	A	A																c.2377A>T	p.Lys793Ter	p.K793*	ENST00000369066	2/20	154	113	41	287	287	0	strelka-varscan-mutect	AIM1,stop_gained,p.Lys1201Ter,ENST00000633556,;AIM1,stop_gained,p.Lys793Ter,ENST00000369066,NM_001624.3;	T	ENST00000369066	Transcript	stop_gained	2864/7553	2377/5172	793/1723	K/*	Aag/Tag		1		1	AIM1	HGNC	HGNC:356	protein_coding	YES	CCDS34506.1	ENSP00000358062	Q9Y4K1		UPI000013C91D	NM_001624.3			2/20		hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF2																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	79	106520809	106520809	A	T	1	0	0	0	0	0	1	0	0	507	131	5	4		4	AIM1	6	106520809	Nonsense_Mutation	SNP	A	C3N-01416_TP	49872208	106520809	64285170	29	25897											
ROS1	0	.	GRCh38	chr6	117386903	117386903	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttacctgacacatttcctAtatcagaggataagaactct	13	13	6	9	0	2	3	1	1	1	2	3	4	3	4	2	1	2	1	2	1	5	6	rs758536297		C3N-01416_TP	C3N-01416_NB	A	A																c.2111T>A	p.Ile704Lys	p.I704K	ENST00000368508	14/43	75	59	16	142	142	0	strelka-varscan-mutect	ROS1,missense_variant,p.Ile704Lys,ENST00000368508,NM_002944.2;ROS1,missense_variant,p.Ile699Lys,ENST00000368507,;RP1-179P9.3,intron_variant,,ENST00000467125,;	T	ENST00000368508	Transcript	missense_variant	2310/7435	2111/7044	704/2347	I/K	aTa/aAa	rs758536297	1		-1	ROS1	HGNC	HGNC:10261	protein_coding	YES	CCDS5116.1	ENSP00000357494	P08922		UPI000013D467	NM_002944.2	deleterious(0)		14/43		Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		rs758536297	.												T	3	4	79	117386903	117386903	A	T	1	0	0	0	0	1	0	0	0	13708	449	16	4		4	ROS1	6	117386903	Missense_Mutation	SNP	A	C3N-01416_TP	10866094	117386903	53419076	30	25898											
SHPRH	0	.	GRCh38	chr6	145945396	145945396	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttacctgcttttttgttttAtcacatatatcctcttcctt	6	22	3	10	0	2	0	1	0	1	0	4	0	4	0	3	0	2	3	3	0	4	10			C3N-01416_TP	C3N-01416_NB	A	A																c.1563T>A	p.Asp521Glu	p.D521E	ENST00000367505	8/30	50	46	4	116	115	1	varscan-mutect	SHPRH,missense_variant,p.Asp521Glu,ENST00000629427,;SHPRH,missense_variant,p.Asp521Glu,ENST00000367505,;SHPRH,missense_variant,p.Asp521Glu,ENST00000438092,NM_173082.3;SHPRH,missense_variant,p.Asp521Glu,ENST00000275233,NM_001042683.2;SHPRH,missense_variant,p.Asp410Glu,ENST00000367503,;SHPRH,missense_variant,p.Asp410Glu,ENST00000519632,;SHPRH,3_prime_UTR_variant,,ENST00000433355,;SHPRH,downstream_gene_variant,,ENST00000521977,;	T	ENST00000367505	Transcript	missense_variant	1828/7201	1563/5052	521/1683	D/E	gaT/gaA	COSM4725912,COSM4725913	1		-1	SHPRH	HGNC	HGNC:19336	protein_coding	YES	CCDS43513.2	ENSP00000356475	Q149N8		UPI0000458A24		tolerated_low_confidence(0.61)		8/30		Pfam_domain:PF00176,SMART_domains:SM00487											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1476397934	.												T	3	4	79	145945396	145945396	A	T	1	0	0	0	0	1	0	0	0	14554	446	16	4		4	SHPRH	6	145945396	Missense_Mutation	SNP	A	C3N-01416_TP	28558493	145945396	24860583	31	25899											
GRM1	0	.	GRCh38	chr6	146029947	146029947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccggtgtctgcctgacGgccagtccctccccccaggc	5	7	10	19	2	2	1	1	1	1	0	4	1	4	1	7	3	2	0	7	3	1	0			C3N-01416_TP	C3N-01416_NB	G	G																c.430G>A	p.Gly144Ser	p.G144S	ENST00000361719	2/9	268	203	65	465	464	1	strelka-varscan-mutect	GRM1,missense_variant,p.Gly144Ser,ENST00000492807,NM_001278065.1,NM_001278066.1;GRM1,missense_variant,p.Gly144Ser,ENST00000361719,;GRM1,missense_variant,p.Gly144Ser,ENST00000282753,NM_001278064.1;GRM1,missense_variant,p.Gly144Ser,ENST00000355289,NM_001278067.1;GRM1,missense_variant,p.Gly144Ser,ENST00000507907,;GRM1,non_coding_transcript_exon_variant,,ENST00000502405,;GRM1,non_coding_transcript_exon_variant,,ENST00000507005,;	A	ENST00000361719	Transcript	missense_variant	797/6754	430/3585	144/1194	G/S	Ggc/Agc	COSM236749,COSM740710,COSM740711	1		1	GRM1	HGNC	HGNC:4593	protein_coding	YES	CCDS5209.1	ENSP00000354896	Q13255		UPI000013DCFD		tolerated(0.75)		2/9		hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF29,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR01051											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												A	3	1	79	146029947	146029947	G	A	1	0	0	0	0	1	0	0	0	6678	1116	39	1		1	GRM1	6	146029947	Missense_Mutation	SNP	G	C3N-01416_TP	84551	146029947	24776032	32	25900											
RNF216	0	.	GRCh38	chr7	5721158	5721158	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagaacatcctcttttCtatttttatgtcacctagaa	14	15	4	8	0	3	3	1	0	2	3	4	3	4	3	2	0	1	0	2	0	7	7	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.1519G>T	p.Glu507Ter	p.E507*	ENST00000389902	9/17	136	110	26	133	133	0	strelka-varscan-mutect	RNF216,stop_gained,p.Glu450Ter,ENST00000425013,NM_207116.2;RNF216,stop_gained,p.Glu507Ter,ENST00000389902,NM_207111.3;RNF216,3_prime_UTR_variant,,ENST00000389900,;	A	ENST00000389902	Transcript	stop_gained	1787/3293	1519/2772	507/923	E/*	Gaa/Taa		1		-1	RNF216	HGNC	HGNC:21698	protein_coding	YES	CCDS34594.1	ENSP00000374552	Q9NWF9		UPI000013F5B3	NM_207111.3			9/17		hmmpanther:PTHR22770,hmmpanther:PTHR22770:SF13																	HIGH	1	SNV	1			1										PASS		rs1398849784	.												A	4	1	79	5721158	5721158	C	A	1	0	0	0	0	0	1	0	0	13659	922	32	2		2	RNF216	7	5721158	Nonsense_Mutation	SNP	C	C3N-01416_TP		5721158	153624815	33	25901											
STK31	0	.	GRCh38	chr7	23783654	23783654	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcctgaaataggattactCaaatacatggtaaactttgt	15	13	6	7	0	1	1	1	1	0	0	2	2	2	2	1	2	3	1	1	2	7	5	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.2139C>T	p.=	p.L713L	ENST00000355870	17/24	130	100	30	207	207	0	strelka-varscan-mutect	STK31,synonymous_variant,p.=,ENST00000354639,NM_032944.3,NM_001260504.1;STK31,synonymous_variant,p.=,ENST00000355870,NM_031414.4;STK31,synonymous_variant,p.=,ENST00000433467,NM_001260505.1;STK31,non_coding_transcript_exon_variant,,ENST00000405627,;STK31,downstream_gene_variant,,ENST00000476399,;	T	ENST00000355870	Transcript	synonymous_variant	2258/3326	2139/3060	713/1019	L	ctC/ctT		1		1	STK31	HGNC	HGNC:11407	protein_coding	YES	CCDS5386.1	ENSP00000348132	Q9BXU1		UPI0000167B73	NM_031414.4			17/24		PROSITE_profiles:PS50011,hmmpanther:PTHR12302,hmmpanther:PTHR12302:SF3																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	79	23783654	23783654	C	T	1	0	0	0	0	0	0	0	1	15673	813	29	3		3	STK31	7	23783654	Silent	SNP	C	C3N-01416_TP	18062496	23783654	135562319	34	25902											
HOXA4	0	.	GRCh38	chr7	27129344	27129344	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggccgaattggaggatcGcatcttggtgttgggcagtt	7	11	16	7	3	1	0	0	0	1	0	2	4	1	2	1	5	0	4	1	5	1	4			C3N-01416_TP	C3N-01416_NB	G	G																c.844C>T	p.Arg282Ter	p.R282*	ENST00000360046	2/2	468	386	82	489	485	4	strelka-varscan-mutect	HOXA4,stop_gained,p.Arg282Ter,ENST00000360046,;HOXA4,stop_gained,p.Arg282Ter,ENST00000610970,NM_002141.4;HOXA4,stop_gained,p.Arg282Ter,ENST00000428284,;HOXA4,stop_gained,p.Arg102Ter,ENST00000511914,;HOXA3,intron_variant,,ENST00000317201,;HOXA3,intron_variant,,ENST00000522788,;HOXA3,upstream_gene_variant,,ENST00000612286,NM_153631.2;HOXA-AS2,intron_variant,,ENST00000521159,;HOXA-AS2,downstream_gene_variant,,ENST00000517550,;HOXA-AS2,downstream_gene_variant,,ENST00000521687,;HOXA-AS3,upstream_gene_variant,,ENST00000518848,;RP1-170O19.22,non_coding_transcript_exon_variant,,ENST00000467897,;HOXA3,intron_variant,,ENST00000521401,;HOXA3,intron_variant,,ENST00000518451,;	A	ENST00000360046	Transcript	stop_gained	910/1747	844/963	282/320	R/*	Cga/Tga	COSM184290	1		-1	HOXA4	HGNC	HGNC:5105	protein_coding	YES	CCDS5405.1	ENSP00000353151	Q00056		UPI000013C810				2/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF211											1						HIGH	1	SNV	2		1	1										PASS		rs1383100158	.												A	4	1	79	27129344	27129344	G	A	1	0	0	0	0	0	1	0	0	7188	1095	38	1		1	HOXA4	7	27129344	Nonsense_Mutation	SNP	G	C3N-01416_TP	3345690	27129344	132216629	35	25903											
HECW1	0	.	GRCh38	chr7	43445405	43445405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaggaggaggagaacagcGcgttcgagtcggtacccgac	11	4	16	10	6	0	1	0	0	0	1	2	7	0	3	1	4	3	2	1	4	2	2	rs762002584		C3N-01416_TP	C3N-01416_NB	G	G																c.2233G>A	p.Ala745Thr	p.A745T	ENST00000395891	11/30	164	135	29	145	144	1	strelka-varscan-mutect	HECW1,missense_variant,p.Ala745Thr,ENST00000395891,NM_015052.4;HECW1,missense_variant,p.Ala745Thr,ENST00000453890,NM_001287059.1;HECW1,downstream_gene_variant,,ENST00000471043,;	A	ENST00000395891	Transcript	missense_variant	2838/9501	2233/4821	745/1606	A/T	Gcg/Acg	rs762002584,COSM1254084,COSM1254085,COSM325484	1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4	deleterious_low_confidence(0.02)		11/30		hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs762002584	.												A	3	1	79	43445405	43445405	G	A	1	0	0	0	0	1	0	0	0	6924	1087	38	1		1	HECW1	7	43445405	Missense_Mutation	SNP	G	C3N-01416_TP	16316061	43445405	115900568	36	25904											
URGCP	0	.	GRCh38	chr7	43878650	43878650	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgggacttggagttgctActgacgtccatgcgcacgaa	9	9	13	10	3	0	1	0	1	0	0	1	4	1	3	1	2	4	4	1	2	2	3	novel		C3N-01416_TP	C3N-01416_NB	A	A																c.813T>C	p.=	p.S271S	ENST00000453200	6/6	403	358	45	467	465	2	strelka-varscan-mutect	URGCP,synonymous_variant,p.=,ENST00000336086,;URGCP,synonymous_variant,p.=,ENST00000453200,NM_001077663.2;URGCP,synonymous_variant,p.=,ENST00000443736,NM_001077664.2,NM_001290075.1,NM_001290076.1;URGCP,synonymous_variant,p.=,ENST00000402306,NM_017920.4;URGCP-MRPS24,intron_variant,,ENST00000603700,NM_001204871.1;URGCP,downstream_gene_variant,,ENST00000426198,;URGCP,downstream_gene_variant,,ENST00000439702,;URGCP,downstream_gene_variant,,ENST00000455877,;URGCP,downstream_gene_variant,,ENST00000446958,;URGCP,non_coding_transcript_exon_variant,,ENST00000497914,;URGCP,downstream_gene_variant,,ENST00000467410,;URGCP,downstream_gene_variant,,ENST00000474376,;	G	ENST00000453200	Transcript	synonymous_variant	1307/4042	813/2796	271/931	S	agT/agC		1		-1	URGCP	HGNC	HGNC:30890	protein_coding	YES	CCDS47578.1	ENSP00000396918	Q8TCY9		UPI000020EE9D	NM_001077663.2			6/6		hmmpanther:PTHR22796																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	79	43878650	43878650	A	G	1	0	0	0	0	0	0	0	1	17556	388	14	5		5	URGCP	7	43878650	Silent	SNP	A	C3N-01416_TP	433245	43878650	115467323	37	25905											
ZPBP	0	.	GRCh38	chr7	50031143	50031143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagctctttgcattttaaCgcgatggcattcagacttaa	11	13	7	10	2	2	1	1	0	1	1	2	2	2	1	1	1	3	3	1	1	2	5	rs776265657		C3N-01416_TP	C3N-01416_NB	C	C																c.655G>A	p.Val219Ile	p.V219I	ENST00000046087	5/8	272	210	62	365	365	0	strelka-varscan-mutect	ZPBP,missense_variant,p.Val219Ile,ENST00000046087,NM_007009.2;ZPBP,missense_variant,p.Val218Ile,ENST00000419417,NM_001159878.1;ZPBP,intron_variant,,ENST00000491129,;	T	ENST00000046087	Transcript	missense_variant	725/1213	655/1056	219/351	V/I	Gtt/Att	rs776265657,COSM1090559	1		-1	ZPBP	HGNC	HGNC:15662	protein_coding	YES	CCDS5509.1	ENSP00000046087	Q9BS86		UPI0000073BD0	NM_007009.2	tolerated(0.12)		5/8		Pfam_domain:PF07354,hmmpanther:PTHR15443,hmmpanther:PTHR15443:SF5											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs776265657	.												T	3	4	79	50031143	50031143	C	T	1	0	0	0	0	1	0	0	0	18811	536	19	1		1	ZPBP	7	50031143	Missense_Mutation	SNP	C	C3N-01416_TP	6152493	50031143	109314830	38	25906											
EGFR	0	.	GRCh38	chr7	55174772	55174786	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-																															aaaattcccgtcgctatcaaGgaattaagagaagcaacatc																								rs121913421		C3N-01416_TP	C3N-01416_NB	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC																c.2235_2249delGGAATTAAGAGAAGC	p.Glu746_Ala750del	p.E746_A750del	ENST00000275493	19/28	427	359	68	514	514	0	sindel-varindel-pindel	EGFR,inframe_deletion,p.Glu746_Ala750del,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000454757,;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	-	ENST00000275493	Transcript	inframe_deletion	2412-2426/9821	2235-2249/3633	745-750/1210	KELREA/K	aaGGAATTAAGAGAAGCa/aaa	rs121913421,COSM6223	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1						MODERATE	1	deletion	1		1,1	1										PASS		.	.												-	7	5	79	55174772	55174772	GGAATTAAGAGAAGC	-	1	0	1	0	1	0	0	0	0	4803	991	35	0		0	EGFR	7	55174772	In_Frame_Del	DEL	GGAATTAAGAGAAGC	C3N-01416_TP	5143629	55174772	104171201	39	25907											
MUC17	0	.	GRCh38	chr7	101043717	101043717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacaaaacccagcacaCggaccacttccttccccacg	12	4	6	19	2	0	0	0	0	0	0	2	2	2	2	6	2	2	1	6	2	2	2	rs368040615		C3N-01416_TP	C3N-01416_NB	C	C																c.12301C>T	p.Arg4101Trp	p.R4101W	ENST00000306151	3/13	162	149	13	195	195	0	strelka-varscan	MUC17,missense_variant,p.Arg4101Trp,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Arg4101Trp,ENST00000379439,;MUC17,non_coding_transcript_exon_variant,,ENST00000470303,;	T	ENST00000306151	Transcript	missense_variant	12365/14247	12301/13482	4101/4493	R/W	Cgg/Tgg	rs368040615,COSM1312528	1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	deleterious(0)		3/13		Low_complexity_(Seg):seg,hmmpanther:PTHR37999:SF1,hmmpanther:PTHR37999											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	79	101043717	101043717	C	T	1	0	0	0	0	1	0	0	0	9973	527	19	1		1	MUC17	7	101043717	Missense_Mutation	SNP	C	C3N-01416_TP	45868945	101043717	58302256	40	25908											
HR	0	.	GRCh38	chr8	22116946	22116946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggtccagcagctcacgcCccactcctcccgcaggcgcc	6	4	10	21	3	1	0	1	0	0	0	4	0	4	0	6	2	2	3	6	2	0	0	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.3307G>T	p.Gly1103Cys	p.G1103C	ENST00000381418	17/19	168	135	33	153	153	0	strelka-varscan-mutect	HR,missense_variant,p.Gly1103Cys,ENST00000381418,NM_005144.4;HR,intron_variant,,ENST00000312841,NM_018411.4;HR,non_coding_transcript_exon_variant,,ENST00000522016,;HR,downstream_gene_variant,,ENST00000517699,;HR,downstream_gene_variant,,ENST00000522039,;HR,downstream_gene_variant,,ENST00000518461,;	A	ENST00000381418	Transcript	missense_variant	4788/6336	3307/3570	1103/1189	G/C	Ggc/Tgc		1		-1	HR	HGNC	HGNC:5172	protein_coding	YES	CCDS6022.1	ENSP00000370826	O43593		UPI000013EB0B	NM_005144.4	deleterious(0)		17/19		PROSITE_profiles:PS51184,hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF4,Pfam_domain:PF02373,SMART_domains:SM00558,Superfamily_domains:SSF51197																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	79	22116946	22116946	C	A	1	0	0	0	0	1	0	0	0	7242	623	22	2		2	HR	8	22116946	Missense_Mutation	SNP	C	C3N-01416_TP		22116946	123021690	41	25909											
ZNF7	0	.	GRCh38	chr8	144842755	144842755	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaaagggttcacactggaGagaggccctataaatgtaat	15	9	10	7	0	2	1	2	0	0	1	2	3	2	2	1	3	0	2	1	3	5	4	novel		C3N-01416_TP	C3N-01416_NB	G	G																c.1681G>C	p.Glu561Gln	p.E561Q	ENST00000446747	5/5	130	123	7	199	199	0	strelka-varscan-mutect	ZNF7,missense_variant,p.Glu550Gln,ENST00000528372,NM_003416.3;ZNF7,missense_variant,p.Glu561Gln,ENST00000446747,NM_001282795.1;ZNF7,missense_variant,p.Glu454Gln,ENST00000544249,NM_001282797.1;ZNF7,intron_variant,,ENST00000525266,NM_001282796.1;ZNF7,intron_variant,,ENST00000325217,;ZNF7,downstream_gene_variant,,ENST00000528130,;ZNF7,downstream_gene_variant,,ENST00000532777,;ZNF7,downstream_gene_variant,,ENST00000527218,;ZNF7,downstream_gene_variant,,ENST00000533314,;ZNF7,downstream_gene_variant,,ENST00000529819,;ZNF7,downstream_gene_variant,,ENST00000532393,;ZNF7,downstream_gene_variant,,ENST00000530776,;ZNF7,downstream_gene_variant,,ENST00000532051,;ZNF7,non_coding_transcript_exon_variant,,ENST00000528017,;COMMD5,intron_variant,,ENST00000530332,;ZNF7,downstream_gene_variant,,ENST00000532382,;ZNF7,downstream_gene_variant,,ENST00000530082,;ZNF7,downstream_gene_variant,,ENST00000529767,;	C	ENST00000446747	Transcript	missense_variant	1777/2242	1681/2094	561/697	E/Q	Gag/Cag		1		1	ZNF7	HGNC	HGNC:13139	protein_coding	YES	CCDS64996.1	ENSP00000393260	P17097		UPI00017A7AA1	NM_001282795.1	deleterious(0.03)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF189,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	79	144842755	144842755	G	C	1	0	0	0	0	1	0	0	0	18675	943	33	4		4	ZNF7	8	144842755	Missense_Mutation	SNP	G	C3N-01416_TP	122725809	144842755	295881	42	25910											
ZNF462	0	.	GRCh38	chr9	106924596	106924596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggttgtggagcgcagcatCttagagtctatggtcaagcc	9	10	14	8	1	3	1	1	0	2	1	3	3	3	2	1	3	3	3	1	3	3	3	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.684C>T	p.=	p.I228I	ENST00000277225	3/13	193	161	32	327	327	0	strelka-varscan-mutect	ZNF462,synonymous_variant,p.=,ENST00000277225,NM_021224.4;ZNF462,intron_variant,,ENST00000472574,;ZNF462,upstream_gene_variant,,ENST00000374686,;ZNF462,upstream_gene_variant,,ENST00000441147,;ZNF462,upstream_gene_variant,,ENST00000480607,;	T	ENST00000277225	Transcript	synonymous_variant	973/10414	684/7521	228/2506	I	atC/atT		1		1	ZNF462	HGNC	HGNC:21684	protein_coding	YES	CCDS35096.1	ENSP00000277225	Q96JM2		UPI0000470106	NM_021224.4			3/13																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	79	106924596	106924596	C	T	1	0	0	0	0	0	0	0	1	18497	903	32	3		3	ZNF462	9	106924596	Silent	SNP	C	C3N-01416_TP		106924596	31470121	43	25911											
NDOR1	0	.	GRCh38	chr9	137212579	137212579	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactttgccgtcctgggcctCggggactcctcatacgccaa	6	9	11	15	3	1	0	1	0	0	0	4	2	3	1	5	3	2	0	5	3	2	2	rs750433403		C3N-01416_TP	C3N-01416_NB	C	C																c.291C>T	p.=	p.L97L	ENST00000371521	3/14	241	225	16	242	241	1	strelka-varscan-mutect	NDOR1,synonymous_variant,p.=,ENST00000371521,NM_001144026.2;NDOR1,synonymous_variant,p.=,ENST00000427047,NM_001144027.2;NDOR1,synonymous_variant,p.=,ENST00000458322,NM_001144028.2;NDOR1,synonymous_variant,p.=,ENST00000344894,NM_014434.3;NDOR1,non_coding_transcript_exon_variant,,ENST00000613750,;NDOR1,non_coding_transcript_exon_variant,,ENST00000612145,;	T	ENST00000371521	Transcript	synonymous_variant	374/2497	291/1821	97/606	L	ctC/ctT	rs750433403,COSM1461342,COSM1461343	1		1	NDOR1	HGNC	HGNC:29838	protein_coding	YES	CCDS48061.1	ENSP00000360576	Q9UHB4		UPI0000190A69	NM_001144026.2			3/14		Gene3D:3.40.50.360,HAMAP:MF_03178,Pfam_domain:PF00258,Prints_domain:PR00369,PROSITE_profiles:PS50902,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF10,Superfamily_domains:SSF52218											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs750433403	.												T	2	4	79	137212579	137212579	C	T	1	0	0	0	0	0	0	0	1	10270	871	31	1		1	NDOR1	9	137212579	Silent	SNP	C	C3N-01416_TP	30287983	137212579	1182138	44	25912											
C10orf71	0	.	GRCh38	chr10	49325934	49325934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaccccctacttgagctgtCggcagaagacctccggaccc	8	7	10	16	2	0	4	0	2	0	2	2	5	1	5	5	2	2	2	5	2	2	2			C3N-01416_TP	C3N-01416_NB	C	C																c.3389C>T	p.Ser1130Leu	p.S1130L	ENST00000374144	3/3	68	64	4	122	122	0	varscan-mutect	C10orf71,missense_variant,p.Ser1130Leu,ENST00000374144,NM_001135196.1;	T	ENST00000374144	Transcript	missense_variant	3677/5230	3389/4308	1130/1435	S/L	tCg/tTg	COSM5628222	1		1	C10orf71	HGNC	HGNC:26973	protein_coding	YES	CCDS44387.1	ENSP00000363259	Q711Q0		UPI0000161572	NM_001135196.1	tolerated(0.3)		3/3		hmmpanther:PTHR33775											1						MODERATE	1	SNV	1		1	1										PASS		rs1471758251	.												T	3	4	79	49325934	49325934	C	T	1	0	0	0	0	1	0	0	0	1769	893	31	1		1	C10orf71	10	49325934	Missense_Mutation	SNP	C	C3N-01416_TP		49325934	84471488	45	25913											
HECTD2	0	.	GRCh38	chr10	91500595	91500595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtactcagtatgatggctatGcaaaaacggacttaactata	15	11	8	7	1	1	1	1	1	0	0	1	2	1	2	0	2	4	4	0	2	8	6	novel		C3N-01416_TP	C3N-01416_NB	G	G																c.2056G>A	p.Ala686Thr	p.A686T	ENST00000446394	20/22	161	145	16	216	216	0	strelka-varscan-mutect	HECTD2,missense_variant,p.Ala686Thr,ENST00000446394,NM_001284274.1;HECTD2,missense_variant,p.Ala682Thr,ENST00000298068,NM_182765.4;HECTD2,missense_variant,p.Ala332Thr,ENST00000371667,;	A	ENST00000446394	Transcript	missense_variant	2210/4939	2056/2343	686/780	A/T	Gca/Aca		1		1	HECTD2	HGNC	HGNC:26736	protein_coding	YES	CCDS60591.1	ENSP00000401023		E7ERR3	UPI0001AE6DAB	NM_001284274.1	tolerated(0.58)		20/22		Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF301,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	79	91500595	91500595	G	A	1	0	0	0	0	1	0	0	0	6921	1319	46	3		3	HECTD2	10	91500595	Missense_Mutation	SNP	G	C3N-01416_TP	42174661	91500595	42296827	46	25914											
MYOF	0	.	GRCh38	chr10	93366427	93366427	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actatccactctccttcccaTtcccagccttttggaggcag	7	12	6	16	0	1	0	0	0	1	0	5	1	4	1	5	2	1	1	5	2	1	5	rs770387435		C3N-01416_TP	C3N-01416_NB	T	T																c.2718A>G	p.=	p.E906E	ENST00000359263	26/54	94	80	14	236	236	0	strelka-varscan-mutect	MYOF,synonymous_variant,p.=,ENST00000359263,NM_013451.3;MYOF,synonymous_variant,p.=,ENST00000358334,NM_133337.2;MYOF,synonymous_variant,p.=,ENST00000463743,;	C	ENST00000359263	Transcript	synonymous_variant	2718/6719	2718/6186	906/2061	E	gaA/gaG	rs770387435	1		-1	MYOF	HGNC	HGNC:3656	protein_coding	YES	CCDS41551.1	ENSP00000352208	Q9NZM1		UPI000012FBA1	NM_013451.3			26/54		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF40,SMART_domains:SM00693																	LOW	1	SNV	1			1										PASS		rs770387435	.												C	2	2	79	93366427	93366427	T	C	1	0	0	0	0	0	0	0	1	10090	1490	52	5		5	MYOF	10	93366427	Silent	SNP	T	C3N-01416_TP	1865832	93366427	40430995	47	25915											
MTG1	0	.	GRCh38	chr10	133420043	133420043	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtaacgtgaacattattCagcctaactatcctgcggca	12	10	8	11	2	1	1	1	1	0	0	2	1	2	1	2	2	5	2	2	2	5	5	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.898C>T	p.Gln300Ter	p.Q300*	ENST00000468317	12/12	37	31	6	53	53	0	strelka-varscan-mutect	RP11-108K14.8,stop_gained,p.Gln300Ter,ENST00000468317,;MTG1,stop_gained,p.Gln295Ter,ENST00000317502,NM_138384.2;MTG1,stop_gained,p.Gln254Ter,ENST00000477902,;MTG1,stop_gained,p.Gln244Ter,ENST00000432508,;SPRN,downstream_gene_variant,,ENST00000414069,NM_001012508.3;MTG1,non_coding_transcript_exon_variant,,ENST00000460848,;MTG1,non_coding_transcript_exon_variant,,ENST00000473735,;	T	ENST00000468317	Transcript	stop_gained	1153/1605	898/1020	300/339	Q/*	Cag/Tag		1		1	RP11-108K14.8	Clone_based_vega_gene		protein_coding	YES		ENSP00000436767		E9PI62	UPI0000D4C5CD				12/12		hmmpanther:PTHR11089,Gene3D:1pujA02,PIRSF_domain:PIRSF006230																	HIGH		SNV	5			1										PASS		.	.												T	4	4	79	133420043	133420043	C	T	1	0	0	0	0	0	1	0	0	9914	827	29	3		3	MTG1	10	133420043	Nonsense_Mutation	SNP	C	C3N-01416_TP	40053616	133420043	377379	48	25916											
COPB1	0	.	GRCh38	chr11	14468785	14468785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttccttgcagttcatttCattcttagcagttagttgca	8	18	6	9	0	4	0	2	0	2	0	5	0	5	0	1	0	3	6	1	0	2	8			C3N-01416_TP	C3N-01416_NB	C	C																c.2041G>A	p.Glu681Lys	p.E681K	ENST00000249923	16/22	162	150	12	276	276	0	strelka-varscan-mutect	COPB1,missense_variant,p.Glu681Lys,ENST00000249923,NM_016451.4;COPB1,missense_variant,p.Glu681Lys,ENST00000439561,NM_001144061.1,NM_001144062.1;	T	ENST00000249923	Transcript	missense_variant	2342/3481	2041/2862	681/953	E/K	Gaa/Aaa	COSM147148	1		-1	COPB1	HGNC	HGNC:2231	protein_coding	YES	CCDS7815.1	ENSP00000249923	P53618		UPI000000103D	NM_016451.4	tolerated(0.36)		16/22		hmmpanther:PTHR10635,Pfam_domain:PF07718,PIRSF_domain:PIRSF005727											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	79	14468785	14468785	C	T	1	0	0	0	0	1	0	0	0	3520	835	29	3		3	COPB1	11	14468785	Missense_Mutation	SNP	C	C3N-01416_TP		14468785	120617837	49	25917											
SORL1	0	.	GRCh38	chr11	121554018	121554018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagccaccgagcagttgcCtctcaccgggctacgggcag	7	5	15	14	3	1	0	1	0	1	0	2	2	1	1	4	3	4	4	4	3	1	2	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.2348C>T	p.Pro783Leu	p.P783L	ENST00000260197	17/48	184	159	25	297	297	0	strelka-varscan-mutect	SORL1,missense_variant,p.Pro783Leu,ENST00000260197,NM_003105.5;SORL1,upstream_gene_variant,,ENST00000529445,;SORL1,upstream_gene_variant,,ENST00000524873,;	T	ENST00000260197	Transcript	missense_variant	2477/10904	2348/6645	783/2214	P/L	cCt/cTt		1		1	SORL1	HGNC	HGNC:11185	protein_coding	YES	CCDS8436.1	ENSP00000260197	Q92673		UPI000013D0B1	NM_003105.5	tolerated(0.07)		17/48		Gene3D:2.120.10.30,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	79	121554018	121554018	C	T	1	0	0	0	0	1	0	0	0	15256	681	24	3		3	SORL1	11	121554018	Missense_Mutation	SNP	C	C3N-01416_TP	107085233	121554018	13532604	50	25918											
PLBD1	0	.	GRCh38	chr12	14567640	14567640	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcagcagcagcagcagCagaagcggtggcggctgtgg	9	3	19	10	2	0	1	0	0	0	1	0	1	0	1	0	5	7	8	0	5	1	0	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.57G>T	p.=	p.L19L	ENST00000240617	1/11	98	91	7	117	115	2	varscan-mutect	PLBD1,synonymous_variant,p.=,ENST00000240617,NM_024829.5;PLBD1-AS1,upstream_gene_variant,,ENST00000542401,;PLBD1-AS1,upstream_gene_variant,,ENST00000545424,;PLBD1,synonymous_variant,p.=,ENST00000541618,;	A	ENST00000240617	Transcript	synonymous_variant	710/2426	57/1662	19/553	L	ctG/ctT		1		-1	PLBD1	HGNC	HGNC:26215	protein_coding	YES	CCDS31751.1	ENSP00000240617	Q6P4A8		UPI00004565DA	NM_024829.5			1/11		hmmpanther:PTHR12370,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		rs1177661049	.												A	2	1	79	14567640	14567640	C	A	1	0	0	0	0	0	0	0	1	12119	697	25	2		2	PLBD1	12	14567640	Silent	SNP	C	C3N-01416_TP		14567640	118707669	51	25919											
OVOS2	0	.	GRCh38	chr12	31148114	31148114	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcagctcttaggtcgaacAtatgtggcctgagatgacaa	12	10	11	8	1	1	2	0	2	1	1	2	4	1	2	1	2	3	2	1	2	5	3	rs757342956		C3N-01416_TP	C3N-01416_NB	A	A																c.1212T>A	p.Tyr404Ter	p.Y404*	ENST00000632817	11/34	122	108	14	186	185	1	strelka-mutect	OVOS2,stop_gained,p.Tyr404Ter,ENST00000398963,;OVOS2,stop_gained,p.Tyr404Ter,ENST00000632817,;	T	ENST00000632817	Transcript	stop_gained	1212/4299	1212/4299	404/1432	Y/*	taT/taA	rs757342956	1		-1	OVOS2	Clone_based_vega_gene		protein_coding	YES		ENSP00000487815		A0A0J9YW53	UPI0001AE6AF7				11/34		hmmpanther:PTHR11412:SF77,hmmpanther:PTHR11412																	HIGH	1	SNV	5			1										PASS		rs757342956	.												T	4	4	79	31148114	31148114	A	T	1	0	0	0	0	0	1	0	0	11399	224	8	4		4	OVOS2	12	31148114	Nonsense_Mutation	SNP	A	C3N-01416_TP	16580474	31148114	102127195	52	25920											
KRT1	0	.	GRCh38	chr12	52677695	52677695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttcctgctgcaagttGtcaagtttggcctgaaggtc	8	14	10	9	0	2	1	2	1	0	0	4	1	3	1	2	2	2	4	2	2	4	3	novel		C3N-01416_TP	C3N-01416_NB	G	G																c.918C>A	p.Asp306Glu	p.D306E	ENST00000252244	4/9	222	180	42	440	439	1	strelka-varscan-mutect	KRT1,missense_variant,p.Asp306Glu,ENST00000252244,NM_006121.3;KRT1,upstream_gene_variant,,ENST00000548765,;	T	ENST00000252244	Transcript	missense_variant	977/2451	918/1935	306/644	D/E	gaC/gaA		1		-1	KRT1	HGNC	HGNC:6412	protein_coding	YES	CCDS8836.1	ENSP00000252244	P04264		UPI000013CD4D	NM_006121.3	deleterious(0.04)		4/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF95,Pfam_domain:PF00038,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	79	52677695	52677695	G	T	1	0	0	0	0	1	0	0	0	8329	1368	48	2		2	KRT1	12	52677695	Missense_Mutation	SNP	G	C3N-01416_TP	21529581	52677695	80597614	53	25921											
SP1	0	.	GRCh38	chr12	53382835	53382835	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcccaggagagtggctcAcagcctgtcacctcagggac	8	6	14	13	0	3	1	3	0	0	1	4	3	4	2	3	4	1	1	3	4	0	0	novel		C3N-01416_TP	C3N-01416_NB	A	A																c.888A>G	p.=	p.S296S	ENST00000327443	3/6	275	219	56	381	381	0	strelka-varscan-mutect	SP1,synonymous_variant,p.=,ENST00000426431,NM_003109.1;SP1,synonymous_variant,p.=,ENST00000327443,NM_138473.2,NM_001251825.1;SP1,downstream_gene_variant,,ENST00000548560,;SP1,downstream_gene_variant,,ENST00000551969,;	G	ENST00000327443	Transcript	synonymous_variant	986/2846	888/2358	296/785	S	tcA/tcG		1		1	SP1	HGNC	HGNC:11205	protein_coding	YES	CCDS8857.1	ENSP00000329357	P08047		UPI0000135D4E	NM_138473.2,NM_001251825.1			3/6		hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF16,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	79	53382835	53382835	A	G	1	0	0	0	0	0	0	0	1	15285	146	6	5		5	SP1	12	53382835	Silent	SNP	A	C3N-01416_TP	705140	53382835	79892474	54	25922											
OTOGL	0	.	GRCh38	chr12	80377861	80377861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttacagataaatgttgcatCttgtgacggcaaatgcccat	12	12	8	9	1	1	2	0	1	1	1	1	2	1	2	1	1	3	3	1	1	4	4	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.6848C>T	p.Ser2283Phe	p.S2283F	ENST00000458043	58/58	461	287	174	196	195	1	strelka-varscan-mutect	OTOGL,missense_variant,p.Ser2283Phe,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Ser2271Phe,ENST00000547103,;OTOGL,missense_variant,p.Ser691Phe,ENST00000298820,;OTOGL,3_prime_UTR_variant,,ENST00000551340,;OTOGL,non_coding_transcript_exon_variant,,ENST00000546620,;	T	ENST00000458043	Transcript	missense_variant	6854/8083	6848/7035	2283/2344	S/F	tCt/tTt		1		1	OTOGL	HGNC	HGNC:26901	protein_coding	YES		ENSP00000400895		A0A0A0MSS2	UPI0001D089C5	NM_173591.3	deleterious(0)		58/58		PROSITE_profiles:PS01225,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF225,SMART_domains:SM00041																	MODERATE	1	SNV	5			1										PASS		rs1474633778	.												T	3	4	79	80377861	80377861	C	T	1	0	0	0	0	1	0	0	0	11371	913	32	3		3	OTOGL	12	80377861	Missense_Mutation	SNP	C	C3N-01416_TP	26995026	80377861	52897448	55	25923			1	19		2	2	22	C		6.323739e-05
OTOGL	0	.	GRCh38	chr12	80377882	80377882	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtgacggcaaatgcccatCagctaccatatataacatca	14	10	6	11	1	2	1	2	1	0	0	2	1	2	1	2	1	4	2	2	1	5	5	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.6869C>G	p.Ser2290Ter	p.S2290*	ENST00000458043	58/58	564	341	223	258	258	0	strelka-varscan-mutect	OTOGL,stop_gained,p.Ser2290Ter,ENST00000458043,NM_173591.3;OTOGL,stop_gained,p.Ser2278Ter,ENST00000547103,;OTOGL,stop_gained,p.Ser698Ter,ENST00000298820,;OTOGL,3_prime_UTR_variant,,ENST00000551340,;OTOGL,non_coding_transcript_exon_variant,,ENST00000546620,;	G	ENST00000458043	Transcript	stop_gained	6875/8083	6869/7035	2290/2344	S/*	tCa/tGa		1		1	OTOGL	HGNC	HGNC:26901	protein_coding	YES		ENSP00000400895		A0A0A0MSS2	UPI0001D089C5	NM_173591.3			58/58		PROSITE_profiles:PS01225,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF225,SMART_domains:SM00041																	HIGH	1	SNV	5			1										PASS		.	.												G	4	3	79	80377882	80377882	C	G	1	0	0	0	0	0	1	0	0	11371	838	29	4		4	OTOGL	12	80377882	Nonsense_Mutation	SNP	C	C3N-01416_TP	21	80377882	52897427	56	25924			1	19		2	2	22	C		6.323739e-05
RASSF9	0	.	GRCh38	chr12	85805191	85805191	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtattcggtaatatttCagtcgttcttccagctgttc	8	17	8	8	2	2	1	1	1	1	0	6	1	3	1	1	1	1	5	1	1	3	8			C3N-01416_TP	C3N-01416_NB	C	C																c.819G>T	p.=	p.L273L	ENST00000361228	2/2	106	97	9	229	229	0	strelka-varscan-mutect	RASSF9,synonymous_variant,p.=,ENST00000361228,NM_005447.3;	A	ENST00000361228	Transcript	synonymous_variant	1188/5682	819/1308	273/435	L	ctG/ctT	COSM3872656,COSM3872657	1		-1	RASSF9	HGNC	HGNC:15739	protein_coding	YES	CCDS44950.1	ENSP00000354884	O75901		UPI000003E7E4	NM_005447.3			2/2		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF10											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	79	85805191	85805191	C	A	1	0	0	0	0	0	0	0	1	13254	813	29	2		2	RASSF9	12	85805191	Silent	SNP	C	C3N-01416_TP	5427309	85805191	47470118	57	25925											
RB1	0	.	GRCh38	chr13	48368549	48368549	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaacacagagaacaccaCgaaaaagtaaccttgatgaa	20	6	7	8	1	0	4	0	3	0	1	0	6	0	4	2	0	3	1	2	0	6	3	rs121913301		C3N-01416_TP	C3N-01416_NB	C	C																c.1072C>T	p.Arg358Ter	p.R358*	ENST00000267163	11/27	182	159	23	347	347	0	strelka-varscan-mutect	RB1,stop_gained,p.Arg358Ter,ENST00000267163,NM_000321.2;	T	ENST00000267163	Transcript	stop_gained	1210/4840	1072/2787	358/928	R/*	Cga/Tga	rs121913301,CM951105,CM961226,COSM4776098,COSM879	1		1	RB1	HGNC	HGNC:9884	protein_coding	YES	CCDS31973.1	ENSP00000267163	P06400	A0A024RDV3	UPI0000001C79	NM_000321.2			11/27		hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF21										pathogenic	0,0,0,1,1						HIGH	1	SNV	1		1,1,1,1,1	1										PASS		rs121913301	.												T	4	4	79	48368549	48368549	C	T	1	0	0	0	0	0	1	0	0	13259	528	19	1		1	RB1	13	48368549	Nonsense_Mutation	SNP	C	C3N-01416_TP		48368549	65995779	58	25926											
RNASEH2B	0	.	GRCh38	chr13	50927476	50927476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaactggttaacccctgttCaggtaagttctcttctcata	11	14	6	10	0	3	0	2	0	2	0	5	0	3	0	2	2	2	4	2	2	5	6	rs575985863		C3N-01416_TP	C3N-01416_NB	C	C																c.134C>T	p.Ser45Leu	p.S45L	ENST00000336617	2/11	234	221	13	453	453	0	strelka-varscan-mutect	RNASEH2B,missense_variant,p.Ser45Leu,ENST00000422660,NM_001142279.2;RNASEH2B,missense_variant,p.Ser45Leu,ENST00000336617,NM_024570.3;RNASEH2B,missense_variant,p.Ser15Leu,ENST00000611510,;RNASEH2B,missense_variant,p.Ser15Leu,ENST00000636524,;RNASEH2B,downstream_gene_variant,,ENST00000637648,;RNASEH2B,upstream_gene_variant,,ENST00000495244,;RNASEH2B,upstream_gene_variant,,ENST00000459681,;	T	ENST00000336617	Transcript	missense_variant,splice_region_variant	533/1629	134/939	45/312	S/L	tCa/tTa	rs575985863,COSM696439	1		1	RNASEH2B	HGNC	HGNC:25671	protein_coding	YES	CCDS9425.1	ENSP00000337623	Q5TBB1		UPI000013CFE7	NM_024570.3	deleterious(0.01)		2/11		hmmpanther:PTHR13383:SF11,hmmpanther:PTHR13383,Pfam_domain:PF09468											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs575985863	.												T	3	4	79	50927476	50927476	C	T	1	0	0	0	0	1	0	0	0	13592	840	29	3		3	RNASEH2B	13	50927476	Missense_Mutation	SNP	C	C3N-01416_TP	2558927	50927476	63436852	59	25927											
ARHGAP5	0	.	GRCh38	chr14	32152521	32152521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagatacgtgataacacatCtaaacaggtatttttatttt	14	16	5	6	1	2	2	1	1	1	1	2	2	2	2	0	1	3	1	0	1	6	9	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.4174C>T	p.=	p.L1392L	ENST00000345122	6/7	99	94	5	164	163	1	varscan-mutect	ARHGAP5,synonymous_variant,p.=,ENST00000345122,NM_001030055.1;ARHGAP5,synonymous_variant,p.=,ENST00000396582,;ARHGAP5,synonymous_variant,p.=,ENST00000432921,;ARHGAP5,synonymous_variant,p.=,ENST00000539826,;ARHGAP5,synonymous_variant,p.=,ENST00000556611,NM_001173.2;ARHGAP5,synonymous_variant,p.=,ENST00000433497,;ARHGAP5,synonymous_variant,p.=,ENST00000554090,;ARHGAP5,3_prime_UTR_variant,,ENST00000557643,;ARHGAP5,upstream_gene_variant,,ENST00000216743,;	T	ENST00000345122	Transcript	synonymous_variant	4489/9604	4174/4509	1392/1502	L	Cta/Tta		1		1	ARHGAP5	HGNC	HGNC:675	protein_coding	YES	CCDS32062.1	ENSP00000371897	Q13017		UPI000057B85C	NM_001030055.1			6/7		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4,SMART_domains:SM00324,Superfamily_domains:SSF48350																	LOW	1	SNV	5			1										PASS		rs1374270897	.												T	2	4	79	32152521	32152521	C	T	1	0	0	0	0	0	0	0	1	1016	912	32	3		3	ARHGAP5	14	32152521	Silent	SNP	C	C3N-01416_TP		32152521	74891197	60	25928											
GABRB3	0	.	GRCh38	chr15	26621483	26621483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagggatcccagaataggCgagccttttatctctccaat	11	10	10	10	1	1	2	0	0	1	2	4	5	3	3	3	2	1	0	3	2	4	3	rs756369937		C3N-01416_TP	C3N-01416_NB	C	C																c.292G>A	p.Ala98Thr	p.A98T	ENST00000311550	4/9	183	169	14	279	279	0	strelka-varscan-mutect	GABRB3,missense_variant,p.Ala154Thr,ENST00000541819,;GABRB3,missense_variant,p.Ala13Thr,ENST00000622697,NM_001278631.1;GABRB3,missense_variant,p.Ala98Thr,ENST00000311550,NM_000814.5;GABRB3,missense_variant,p.Ala13Thr,ENST00000628124,NM_001191320.1;GABRB3,missense_variant,p.Ala13Thr,ENST00000636466,;GABRB3,missense_variant,p.Ala98Thr,ENST00000299267,NM_021912.4;GABRB3,missense_variant,p.Ala65Thr,ENST00000638099,;GABRB3,missense_variant,p.Ala27Thr,ENST00000400188,NM_001191321.2;GABRB3,missense_variant,p.Ala13Thr,ENST00000545868,;GABRB3,non_coding_transcript_exon_variant,,ENST00000635832,;GABRB3,non_coding_transcript_exon_variant,,ENST00000556166,;GABRB3,non_coding_transcript_exon_variant,,ENST00000555094,;GABRB3,upstream_gene_variant,,ENST00000636690,;GABRB3,3_prime_UTR_variant,,ENST00000555632,;GABRB3,intron_variant,,ENST00000554556,;GABRB3,upstream_gene_variant,,ENST00000635994,;GABRB3,upstream_gene_variant,,ENST00000556636,;	T	ENST00000311550	Transcript	missense_variant	404/5781	292/1422	98/473	A/T	Gcc/Acc	rs756369937,COSM1372173,COSM1372174,COSM1372175	1		-1	GABRB3	HGNC	HGNC:4083	protein_coding	YES	CCDS10019.1	ENSP00000308725	P28472		UPI000012AFB0	NM_000814.5	tolerated(0.06)		4/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF571,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR00252,Prints_domain:PR01160											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs756369937	.												T	3	4	79	26621483	26621483	C	T	1	0	0	0	0	1	0	0	0	6039	768	27	1		1	GABRB3	15	26621483	Missense_Mutation	SNP	C	C3N-01416_TP		26621483	75369706	61	25929											
TP53BP1	0	.	GRCh38	chr15	43407960	43407960	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacctttgttatgggcacttGaatggtgctgcttcacagag	8	14	11	8	0	1	2	1	1	0	1	1	2	1	2	1	2	3	4	1	2	3	5	novel		C3N-01416_TP	C3N-01416_NB	G	G																c.5729C>G	p.Ser1910Ter	p.S1910*	ENST00000382044	27/28	50	43	7	113	113	0	strelka-varscan-mutect	TP53BP1,stop_gained,p.Ser1910Ter,ENST00000382044,NM_001141980.1;TP53BP1,stop_gained,p.Ser1905Ter,ENST00000263801,NM_005657.2;TP53BP1,stop_gained,p.Ser1908Ter,ENST00000450115,NM_001141979.1;TP53BP1,stop_gained,p.Ser1860Ter,ENST00000382039,;TUBGCP4,3_prime_UTR_variant,,ENST00000564079,NM_014444.3;TUBGCP4,downstream_gene_variant,,ENST00000260383,NM_001286414.1;TUBGCP4,downstream_gene_variant,,ENST00000563147,;TUBGCP4,downstream_gene_variant,,ENST00000565548,;TP53BP1,downstream_gene_variant,,ENST00000434595,;TP53BP1,3_prime_UTR_variant,,ENST00000411772,;TP53BP1,non_coding_transcript_exon_variant,,ENST00000476454,;TUBGCP4,downstream_gene_variant,,ENST00000563963,;TUBGCP4,downstream_gene_variant,,ENST00000561691,;TUBGCP4,downstream_gene_variant,,ENST00000566251,;	C	ENST00000382044	Transcript	stop_gained	5857/10384	5729/5934	1910/1977	S/*	tCa/tGa		1		-1	TP53BP1	HGNC	HGNC:11999	protein_coding	YES	CCDS45250.1	ENSP00000371475	Q12888		UPI0000D720ED	NM_001141980.1			27/28		PROSITE_profiles:PS50172,hmmpanther:PTHR15321,hmmpanther:PTHR15321:SF3,Gene3D:3.40.50.10190,SMART_domains:SM00292,Superfamily_domains:SSF52113																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	79	43407960	43407960	G	C	1	0	0	0	0	0	1	0	0	16861	1294	45	4		4	TP53BP1	15	43407960	Nonsense_Mutation	SNP	G	C3N-01416_TP	16786477	43407960	58583229	62	25930											
PDIA3	0	.	GRCh38	chr15	43761497	43761497	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggactgaggaagaatttaaGaaattcattagtgataaaga	19	10	10	2	0	1	5	1	2	0	3	1	7	1	7	0	2	0	0	0	2	7	5	novel		C3N-01416_TP	C3N-01416_NB	G	G																c.438G>A	p.=	p.K146K	ENST00000300289	4/13	86	76	10	172	172	0	strelka-varscan-mutect	PDIA3,synonymous_variant,p.=,ENST00000300289,NM_005313.4;PDIA3,downstream_gene_variant,,ENST00000469684,;PDIA3,3_prime_UTR_variant,,ENST00000434494,;PDIA3,intron_variant,,ENST00000455250,;PDIA3,downstream_gene_variant,,ENST00000446523,;	A	ENST00000300289	Transcript	synonymous_variant	586/3727	438/1518	146/505	K	aaG/aaA		1		1	PDIA3	HGNC	HGNC:4606	protein_coding	YES	CCDS10101.1	ENSP00000300289	P30101	V9HVY3	UPI0000052A4F	NM_005313.4			4/13		hmmpanther:PTHR18929:SF60,hmmpanther:PTHR18929,TIGRFAM_domain:TIGR01130,Gene3D:3.40.30.10,Superfamily_domains:SSF52833																	LOW	1	SNV	1			1										PASS		rs1240705929	.												A	2	1	79	43761497	43761497	G	A	1	0	0	0	0	0	0	0	1	11757	933	33	3		3	PDIA3	15	43761497	Silent	SNP	G	C3N-01416_TP	353537	43761497	58229692	63	25931											
WDR72	0	.	GRCh38	chr15	53712822	53712822	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtctctcagtatatgtgcAaaatcgaattgtctggcagt	12	13	9	7	1	3	0	1	0	2	0	5	1	3	0	0	1	1	3	0	1	6	3			C3N-01416_TP	C3N-01416_NB	A	A																c.661T>C	p.Cys221Arg	p.C221R	ENST00000396328	7/20	229	192	37	372	372	0	strelka-varscan-mutect	WDR72,missense_variant,p.Cys221Arg,ENST00000396328,;WDR72,missense_variant,p.Cys220Arg,ENST00000557913,;WDR72,missense_variant,p.Cys221Arg,ENST00000360509,NM_182758.3;WDR72,missense_variant,p.Cys221Arg,ENST00000559418,;WDR72,missense_variant,p.Cys221Arg,ENST00000560036,;	G	ENST00000396328	Transcript	missense_variant	901/7507	661/3309	221/1102	C/R	Tgc/Cgc	COSM4055616	1		-1	WDR72	HGNC	HGNC:26790	protein_coding	YES	CCDS10151.1	ENSP00000379619	Q3MJ13		UPI00001D777D		deleterious(0)		7/20		Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF408,Superfamily_domains:SSF50978											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	79	53712822	53712822	A	G	1	0	0	0	0	1	0	0	0	17878	130	5	5		5	WDR72	15	53712822	Missense_Mutation	SNP	A	C3N-01416_TP	9951325	53712822	48278367	64	25932											
FAM173A	0	.	GRCh38	chr16	721799	721799	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacactctcggtgcccacAggtgctggcggcccacaggt	6	6	12	17	2	1	0	0	0	1	0	2	0	1	0	3	5	2	1	3	5	0	0	novel		C3N-01416_TP	C3N-01416_NB	A	A																c.268-2A>T		p.X90_splice	ENST00000569529		73	64	9	97	97	0	strelka-varscan-mutect	FAM173A,splice_acceptor_variant,,ENST00000564000,;FAM173A,splice_acceptor_variant,,ENST00000569529,NM_023933.2;FAM173A,splice_acceptor_variant,,ENST00000219535,NM_001271285.1;FAM173A,splice_acceptor_variant,,ENST00000568916,;METRN,downstream_gene_variant,,ENST00000568223,NM_024042.2;CCDC78,downstream_gene_variant,,ENST00000293889,NM_001031737.2;CCDC78,downstream_gene_variant,,ENST00000345165,;METRN,downstream_gene_variant,,ENST00000219542,;CCDC78,downstream_gene_variant,,ENST00000423653,;METRN,downstream_gene_variant,,ENST00000568415,;METRN,downstream_gene_variant,,ENST00000567076,;FAM173A,splice_acceptor_variant,,ENST00000566525,;FAM173A,splice_acceptor_variant,,ENST00000564640,;FAM173A,splice_acceptor_variant,,ENST00000566437,;CCDC78,downstream_gene_variant,,ENST00000482878,;CCDC78,downstream_gene_variant,,ENST00000481804,;CCDC78,downstream_gene_variant,,ENST00000478979,;CCDC78,downstream_gene_variant,,ENST00000466708,;CCDC78,downstream_gene_variant,,ENST00000463539,;CCDC78,downstream_gene_variant,,ENST00000485091,;METRN,downstream_gene_variant,,ENST00000564661,;CCDC78,downstream_gene_variant,,ENST00000538176,;CCDC78,downstream_gene_variant,,ENST00000439619,;CCDC78,downstream_gene_variant,,ENST00000482152,;CCDC78,downstream_gene_variant,,ENST00000460023,;CCDC78,downstream_gene_variant,,ENST00000471861,;CCDC78,downstream_gene_variant,,ENST00000544996,;CCDC78,downstream_gene_variant,,ENST00000474647,;METRN,downstream_gene_variant,,ENST00000570132,;FAM173A,upstream_gene_variant,,ENST00000570237,;	T	ENST00000569529	Transcript	splice_acceptor_variant	-/1052	268/708	90/235				1		1	FAM173A	HGNC	HGNC:14152	protein_coding	YES	CCDS10423.1	ENSP00000454380	Q9BQD7		UPI000006E1B7	NM_023933.2				2/4																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	79	721799	721799	A	T	1	0	0	0	0	0	0	1	0	5341	202	7	4		4	FAM173A	16	721799	Splice_Site	SNP	A	C3N-01416_TP		721799	89616546	65	25933											
CACNA1H	0	.	GRCh38	chr16	1202406	1202406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacggcccgttgagcttgaaCagccctgatccctacgagaa	10	7	10	14	3	0	4	0	3	0	1	1	5	1	4	3	1	4	2	3	1	3	3	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.1956C>G	p.Asn652Lys	p.N652K	ENST00000348261	9/35	28	25	3	40	40	0	strelka-mutect	CACNA1H,missense_variant,p.Asn652Lys,ENST00000348261,NM_021098.2;CACNA1H,missense_variant,p.Asn652Lys,ENST00000358590,NM_001005407.1;CACNA1H,missense_variant,p.Asn652Lys,ENST00000565831,;RP11-616M22.3,downstream_gene_variant,,ENST00000564700,;CACNA1H,downstream_gene_variant,,ENST00000564954,;	G	ENST00000348261	Transcript	missense_variant	2324/8208	1956/7062	652/2353	N/K	aaC/aaG		1		1	CACNA1H	HGNC	HGNC:1395	protein_coding	YES	CCDS45375.1	ENSP00000334198	O95180		UPI000012727B	NM_021098.2	tolerated(0.23)		9/35																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	79	1202406	1202406	C	G	1	0	0	0	0	1	0	0	0	2233	477	17	4		4	CACNA1H	16	1202406	Missense_Mutation	SNP	C	C3N-01416_TP	480607	1202406	89135939	66	25934											
MMP2	0	.	GRCh38	chr16	55489658	55489658	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaaccccacagccatgtcCactgttggtgggaactcaga	10	8	9	14	0	1	1	1	0	0	1	2	2	2	2	5	2	3	1	5	2	2	2			C3N-01416_TP	C3N-01416_NB	C	C																c.1014C>T	p.=	p.S338S	ENST00000219070	7/13	385	339	46	564	564	0	strelka-varscan-mutect	MMP2,synonymous_variant,p.=,ENST00000219070,NM_004530.5;MMP2,synonymous_variant,p.=,ENST00000570308,;MMP2,synonymous_variant,p.=,ENST00000437642,NM_001127891.2;MMP2,synonymous_variant,p.=,ENST00000543485,NM_001302508.1,NM_001302510.1,NM_001302509.1;MMP2,intron_variant,,ENST00000570283,;MMP2,downstream_gene_variant,,ENST00000564864,;MMP2,downstream_gene_variant,,ENST00000568715,;RP11-212I21.3,downstream_gene_variant,,ENST00000623886,;	T	ENST00000219070	Transcript	synonymous_variant	1523/3741	1014/1983	338/660	S	tcC/tcT	COSM5339173	1		1	MMP2	HGNC	HGNC:7166	protein_coding	YES	CCDS10752.1	ENSP00000219070	P08253	A0A024R6R4	UPI00000422C4	NM_004530.5			7/13		Gene3D:2.10.10.10,Pfam_domain:PF00413,SMART_domains:SM00235,Superfamily_domains:SSF57440											1						LOW	1	SNV	1		1	1										PASS		rs1265010226	.												T	2	4	79	55489658	55489658	C	T	1	0	0	0	0	0	0	0	1	9621	581	21	3		3	MMP2	16	55489658	Silent	SNP	C	C3N-01416_TP	54287252	55489658	34848687	67	25935											
FUK	0	.	GRCh38	chr16	70463677	70463677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgggacgctgttactggCcgtggaggacccagagaagc	8	7	16	10	2	0	1	0	0	0	1	0	5	0	4	2	4	3	3	2	4	2	1	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.137C>T	p.Ala46Val	p.A46V	ENST00000288078	3/24	180	160	20	227	227	0	strelka-varscan-mutect	FUK,missense_variant,p.Ala46Val,ENST00000288078,NM_145059.2;FUK,missense_variant,p.Ala46Val,ENST00000378912,;FUK,missense_variant,p.Ala46Val,ENST00000574784,;FUK,missense_variant,p.Ala46Val,ENST00000573352,;FUK,missense_variant,p.Ala46Val,ENST00000576453,;FUK,missense_variant,p.Ala46Val,ENST00000572784,;FUK,intron_variant,,ENST00000571514,;FUK,non_coding_transcript_exon_variant,,ENST00000464499,;FUK,non_coding_transcript_exon_variant,,ENST00000571487,;FUK,non_coding_transcript_exon_variant,,ENST00000576107,;	T	ENST00000288078	Transcript	missense_variant	369/4081	137/3255	46/1084	A/V	gCc/gTc		1		1	FUK	HGNC	HGNC:29500	protein_coding	YES	CCDS10891.2	ENSP00000288078	Q8N0W3		UPI000013DEF1	NM_145059.2	tolerated(0.34)		3/24		hmmpanther:PTHR32463																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	79	70463677	70463677	C	T	1	0	0	0	0	1	0	0	0	5967	739	26	3		3	FUK	16	70463677	Missense_Mutation	SNP	C	C3N-01416_TP	14974019	70463677	19874668	68	25936											
OR3A3	0	.	GRCh38	chr17	3420791	3420791	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttcttcctggggaaccTgtcagtgctggatgtcggat	6	13	13	9	1	2	0	1	0	1	0	4	3	3	3	2	4	3	2	2	4	2	3	novel		C3N-01416_TP	C3N-01416_NB	T	T																c.224T>C	p.Leu75Pro	p.L75P	ENST00000291231	1/1	30	26	4	55	55	0	varscan-mutect	OR3A3,missense_variant,p.Leu75Pro,ENST00000291231,NM_012373.2;	C	ENST00000291231	Transcript	missense_variant	224/966	224/966	75/321	L/P	cTg/cCg		1		1	OR3A3	HGNC	HGNC:8284	protein_coding	YES	CCDS11025.1	ENSP00000291231	P47888		UPI000013E033	NM_012373.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	79	3420791	3420791	T	C	1	0	0	0	0	1	0	0	0	11116	1580	55	5		5	OR3A3	17	3420791	Missense_Mutation	SNP	T	C3N-01416_TP		3420791	79836650	69	25937											
ATP2A3	0	.	GRCh38	chr17	3925423	3925423	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccactctgttcccagcgctCacttctggctcatttcttct	4	16	5	16	1	6	0	2	0	4	0	8	0	8	0	2	1	1	3	2	1	0	4	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.3158G>C	p.Ter1053SerextTer42	p.*1053Sext*42	ENST00000359983	23/23	223	211	12	285	285	0	strelka-varscan-mutect	ATP2A3,stop_lost,p.Ter1000SerextTer42,ENST00000397041,NM_005173.3;ATP2A3,stop_lost,p.Ter1053SerextTer42,ENST00000359983,NM_174953.2,NM_174954.2;ATP2A3,stop_lost,p.Ter999SerextTer?,ENST00000397043,NM_174957.2;ATP2A3,synonymous_variant,p.=,ENST00000352011,NM_174955.2;ATP2A3,synonymous_variant,p.=,ENST00000572116,;ATP2A3,3_prime_UTR_variant,,ENST00000309890,NM_174956.2;ATP2A3,3_prime_UTR_variant,,ENST00000397035,NM_174958.2;ATP2A3,3_prime_UTR_variant,,ENST00000570845,;ATP2A3,non_coding_transcript_exon_variant,,ENST00000570773,;ATP2A3,non_coding_transcript_exon_variant,,ENST00000574999,;ATP2A3,downstream_gene_variant,,ENST00000576957,;ATP2A3,downstream_gene_variant,,ENST00000571245,;	G	ENST00000359983	Transcript	stop_lost	3158/3290	3158/3159	1053/1052	*/S	tGa/tCa		1		-1	ATP2A3	HGNC	HGNC:813	protein_coding	YES	CCDS11042.1	ENSP00000353072	Q93084		UPI0000161584	NM_174953.2,NM_174954.2			23/23																			HIGH	1	SNV	5			1										PASS		rs1246664144	.												G	4	3	79	3925423	3925423	C	G	1	0	0	0	0	0	0	0	0	1291	837	29	4		4	ATP2A3	17	3925423	Nonstop_Mutation	SNP	C	C3N-01416_TP	504632	3925423	79332018	70	25938											
GUCY2D	0	.	GRCh38	chr17	8013918	8013918	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccccctccactgtgtCggcccttggtgtccatggac	4	9	12	16	1	0	0	0	0	0	0	3	2	2	2	6	4	1	0	6	4	0	1	rs61750168		C3N-01416_TP	C3N-01416_NB	C	C																c.2302C>A	p.=	p.R768R	ENST00000254854	12/20	244	229	15	322	322	0	strelka-varscan-mutect	GUCY2D,synonymous_variant,p.=,ENST00000254854,NM_000180.3;RP11-1099M24.9,non_coding_transcript_exon_variant,,ENST00000623126,;GUCY2D,upstream_gene_variant,,ENST00000574510,;	A	ENST00000254854	Transcript	synonymous_variant	2452/3698	2302/3312	768/1103	R	Cgg/Agg	rs61750168,CM004764,RISN_GC1:c.2302C>T,KinMutBase_AJ222657:g.9875C>T	1		1	GUCY2D	HGNC	HGNC:4689	protein_coding	YES	CCDS11127.1	ENSP00000254854	Q02846		UPI0000128C1C	NM_000180.3			12/20		PROSITE_profiles:PS50011,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF228,Pfam_domain:PF07714,Gene3D:1.10.510.10,Superfamily_domains:SSF56112										not_provided							LOW	1	SNV	1		1,1,0,0	1										PASS		rs61750168	.												A	2	1	79	8013918	8013918	C	A	1	0	0	0	0	0	0	0	1	6779	875	31	1		1	GUCY2D	17	8013918	Silent	SNP	C	C3N-01416_TP	4088495	8013918	75243523	71	25939											
FAM83G	0	.	GRCh38	chr17	18971738	18971738	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggaccctgtgatgatgaAactgctggccctgggagaga	10	7	15	9	0	0	4	0	3	0	1	0	7	0	6	2	3	2	1	2	3	1	0	novel		C3N-01416_TP	C3N-01416_NB	A	A																c.2093T>G	p.Phe698Cys	p.F698C	ENST00000388995	6/6	17	13	4	39	39	0	strelka-varscan-mutect	FAM83G,missense_variant,p.Phe698Cys,ENST00000388995,NM_001039999.2;FAM83G,missense_variant,p.Phe698Cys,ENST00000345041,;SLC5A10,intron_variant,,ENST00000317977,NM_001282417.1;SLC5A10,intron_variant,,ENST00000395647,NM_152351.4;SLC5A10,intron_variant,,ENST00000395645,NM_001042450.2;SLC5A10,intron_variant,,ENST00000417251,NM_001270649.1;SLC5A10,intron_variant,,ENST00000395643,NM_001270648.1;FAM83G,downstream_gene_variant,,ENST00000399096,;	C	ENST00000388995	Transcript	missense_variant	2317/5266	2093/2472	698/823	F/C	tTt/tGt		1		-1	FAM83G	HGNC	HGNC:32554	protein_coding	YES	CCDS42276.1	ENSP00000373647	A6ND36		UPI0000E03260	NM_001039999.2	deleterious(0)		6/6		hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF5																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	79	18971738	18971738	A	C	1	0	0	0	0	1	0	0	0	5497	14	1	5		5	FAM83G	17	18971738	Missense_Mutation	SNP	A	C3N-01416_TP	10957820	18971738	64285703	72	25940											
SLC35G3	0	.	GRCh38	chr17	35193312	35193312	+	Missense_Mutation	SNP	C	C	G																															cactcctccaccctccctgtCctctcacagctgaggttctg																								novel		C3N-01416_TP	C3N-01416_NB	C	C																c.996G>C	p.Arg332Ser	p.R332S	ENST00000297307	1/1	275	248	27	389	389	0	strelka-varscan-mutect	SLC35G3,missense_variant,p.Arg332Ser,ENST00000297307,NM_152462.2;UNC45B,downstream_gene_variant,,ENST00000268876,NM_173167.2;UNC45B,downstream_gene_variant,,ENST00000394570,NM_001267052.1,NM_001033576.1;RP11-799D4.2,downstream_gene_variant,,ENST00000590144,;RP11-799D4.1,downstream_gene_variant,,ENST00000592961,;	G	ENST00000297307	Transcript	missense_variant	1212/2004	996/1017	332/338	R/S	agG/agC		1		-1	SLC35G3	HGNC	HGNC:26848	protein_coding	YES	CCDS11293.1	ENSP00000297307	Q8N808		UPI000006FEAB	NM_152462.2	tolerated(0.17)		1/1		hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32																	MODERATE		SNV				1										PASS		.	.												G	3	3	79	35193312	35193312	C	G	1	0	0	0	0	1	0	0	0	14867	854	30	4		4	SLC35G3	17	35193312	Missense_Mutation	SNP	C	C3N-01416_TP	16221574	35193312	48064129	73	25941	552	2									
SLC35G3	0	.	GRCh38	chr17	35193313	35193313	+	Missense_Mutation	SNP	C	C	T																															actcctccaccctccctgtcCtctcacagctgaggttctgg																								novel		C3N-01416_TP	C3N-01416_NB	C	C																c.995G>A	p.Arg332Lys	p.R332K	ENST00000297307	1/1	278	250	28	383	382	1	strelka-varscan-mutect	SLC35G3,missense_variant,p.Arg332Lys,ENST00000297307,NM_152462.2;UNC45B,downstream_gene_variant,,ENST00000268876,NM_173167.2;UNC45B,downstream_gene_variant,,ENST00000394570,NM_001267052.1,NM_001033576.1;RP11-799D4.2,downstream_gene_variant,,ENST00000590144,;RP11-799D4.1,downstream_gene_variant,,ENST00000592961,;	T	ENST00000297307	Transcript	missense_variant	1211/2004	995/1017	332/338	R/K	aGg/aAg		1		-1	SLC35G3	HGNC	HGNC:26848	protein_coding	YES	CCDS11293.1	ENSP00000297307	Q8N808		UPI000006FEAB	NM_152462.2	tolerated(0.54)		1/1		hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32																	MODERATE		SNV				1										PASS		.	.												T	3	4	79	35193313	35193313	C	T	1	0	0	0	0	1	0	0	0	14867	681	24	3		3	SLC35G3	17	35193313	Missense_Mutation	SNP	C	C3N-01416_TP	1	35193313	48064128	74	25942	552	2									
AARSD1	0	.	GRCh38	chr17	42956318	42956319	+	Frame_Shift_Ins	INS	-	-	A																															caggcaaaccccggccactcINSacctggactcaaggagaggg																								novel		C3N-01416_TP	C3N-01416_NB	-	-																c.1070dupT	p.Ser358GlufsTer7	p.S358Efs*7	ENST00000421990	11/17	108	87	21	203	203	0	sindel-varindel-pindel	PTGES3L-AARSD1,frameshift_variant,p.Ser358GlufsTer7,ENST00000421990,NM_001136042.2;PTGES3L-AARSD1,frameshift_variant,p.Ser358GlufsTer7,ENST00000409399,;PTGES3L-AARSD1,frameshift_variant,p.Ser297GlufsTer7,ENST00000360221,NM_025267.3;PTGES3L-AARSD1,frameshift_variant,p.Ser267GlufsTer7,ENST00000409103,;AARSD1,frameshift_variant,p.Ser184GlufsTer7,ENST00000427569,NM_001261434.1;AARSD1,frameshift_variant,p.Ser79GlufsTer7,ENST00000430739,;PTGES3L-AARSD1,downstream_gene_variant,,ENST00000452752,;AARSD1,downstream_gene_variant,,ENST00000416949,;AARSD1,splice_region_variant,,ENST00000441280,;AARSD1,splice_region_variant,,ENST00000450475,;AARSD1,splice_region_variant,,ENST00000491665,;AARSD1,splice_region_variant,,ENST00000591910,;AARSD1,splice_region_variant,,ENST00000486664,;PTGES3L-AARSD1,splice_region_variant,,ENST00000423601,;AARSD1,non_coding_transcript_exon_variant,,ENST00000483774,;AARSD1,non_coding_transcript_exon_variant,,ENST00000478040,;AARSD1,downstream_gene_variant,,ENST00000436545,;AARSD1,upstream_gene_variant,,ENST00000593123,;AARSD1,upstream_gene_variant,,ENST00000474578,;AARSD1,downstream_gene_variant,,ENST00000492036,;AARSD1,upstream_gene_variant,,ENST00000591096,;AARSD1,upstream_gene_variant,,ENST00000587023,;AARSD1,upstream_gene_variant,,ENST00000592136,;AARSD1,upstream_gene_variant,,ENST00000483535,;AARSD1,upstream_gene_variant,,ENST00000486493,;	A	ENST00000421990	Transcript	frameshift_variant,splice_region_variant	1416-1417/2150	1070-1071/1761	357/586	V/VX	gtg/gtTg		1		-1	PTGES3L-AARSD1	HGNC	HGNC:43946	protein_coding	YES	CCDS45691.1	ENSP00000409924	Q9BTE6		UPI0000D4E5DF	NM_001136042.2			11/17		PROSITE_profiles:PS50860,hmmpanther:PTHR11777,Superfamily_domains:SSF55186																	HIGH	1	insertion	2			1										PASS		.	.												A	7	5	79	42956318	42956318	-	A	1	0	1	1	0	0	0	0	0	25	840	29	0		0	AARSD1	17	42956318	Frame_Shift_Ins	INS	-	C3N-01416_TP	7763005	42956318	40301123	75	25943											
SMAD4	0	.	GRCh38	chr18	51065549	51065549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacccttctggaggagatcGcttttgtttgggtcaactct	6	14	12	9	1	3	1	1	0	2	1	4	4	3	3	1	4	1	2	1	4	1	4	rs377767347		C3N-01416_TP	C3N-01416_NB	G	G																c.1082G>A	p.Arg361His	p.R361H	ENST00000342988	9/12	174	135	39	301	301	0	strelka-varscan-mutect	SMAD4,missense_variant,p.Arg361His,ENST00000342988,NM_005359.5;SMAD4,missense_variant,p.Arg361His,ENST00000398417,;SMAD4,missense_variant,p.Arg265His,ENST00000588745,;SMAD4,upstream_gene_variant,,ENST00000593223,;SMAD4,missense_variant,p.Arg95His,ENST00000611848,;SMAD4,non_coding_transcript_exon_variant,,ENST00000591126,;SMAD4,intron_variant,,ENST00000592186,;SMAD4,upstream_gene_variant,,ENST00000590499,;	A	ENST00000342988	Transcript	missense_variant	1620/8769	1082/1659	361/552	R/H	cGc/cAc	rs377767347,CM004254,CM100519,COSM14122,COSM4072505	1		1	SMAD4	HGNC	HGNC:6770	protein_coding	YES	CCDS11950.1	ENSP00000341551	Q13485	A0A024R274	UPI0000053431	NM_005359.5	deleterious(0.03)		9/12		Gene3D:2.60.200.10,Pfam_domain:PF03166,PROSITE_profiles:PS51076,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF39,SMART_domains:SM00524,Superfamily_domains:SSF49879										pathogenic	0,0,0,1,1	2010169710797267					MODERATE	1	SNV	5		1,1,1,1,1	1										PASS		rs377767347	.												A	3	1	79	51065549	51065549	G	A	1	0	0	0	0	1	0	0	0	15053	1087	38	1		1	SMAD4	18	51065549	Missense_Mutation	SNP	G	C3N-01416_TP		51065549	29307736	76	25944											
MBD3	0	.	GRCh38	chr19	1578414	1578414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttcctcgtcgtcgtcctCagcgcaggccttgtccagcg	3	11	11	16	5	2	0	1	0	1	0	8	0	5	0	4	1	2	1	4	1	0	2	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.802G>A	p.Glu268Lys	p.E268K	ENST00000434436	6/7	282	264	18	315	315	0	strelka-varscan-mutect	MBD3,missense_variant,p.Glu236Lys,ENST00000156825,NM_001281454.1;MBD3,missense_variant,p.Glu212Lys,ENST00000590550,;MBD3,missense_variant,p.Glu268Lys,ENST00000434436,NM_001281453.1;MBD3,downstream_gene_variant,,ENST00000592361,;MBD3,downstream_gene_variant,,ENST00000585967,;MBD3,non_coding_transcript_exon_variant,,ENST00000589064,;AC005943.6,downstream_gene_variant,,ENST00000624421,;MBD3,3_prime_UTR_variant,,ENST00000592012,;AC005943.2,3_prime_UTR_variant,,ENST00000585937,;MBD3,non_coding_transcript_exon_variant,,ENST00000590830,;MBD3,downstream_gene_variant,,ENST00000589901,;MBD3,downstream_gene_variant,,ENST00000585903,;	T	ENST00000434436	Transcript	missense_variant	879/2439	802/876	268/291	E/K	Gag/Aag		1		-1	MBD3	HGNC	HGNC:6918	protein_coding	YES	CCDS12072.1	ENSP00000412302	O95983		UPI000003166B	NM_001281453.1	deleterious_low_confidence(0.03)		6/7		hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF12,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	79	1578414	1578414	C	T	1	0	0	0	0	1	0	0	0	9273	835	29	3		3	MBD3	19	1578414	Missense_Mutation	SNP	C	C3N-01416_TP		1578414	57039202	77	25945											
ZNF98	0	.	GRCh38	chr19	22392982	22392982	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaaataagaatatacaaCtgaaagaaataaaaataata	26	7	5	3	0	0	3	0	1	0	2	0	3	0	3	0	1	2	1	0	1	14	6	rs753118485		C3N-01416_TP	C3N-01416_NB	C	C																c.254-1G>T		p.X85_splice	ENST00000357774		22	18	4	38	38	0	strelka-mutect	ZNF98,splice_acceptor_variant,,ENST00000357774,NM_001098626.1;ZNF98,splice_acceptor_variant,,ENST00000593657,;	A	ENST00000357774	Transcript	splice_acceptor_variant	-/2338	254/1719	85/572			rs753118485	1		-1	ZNF98	HGNC	HGNC:13174	protein_coding	YES	CCDS46031.1	ENSP00000350418	A6NK75		UPI0000251DC5	NM_001098626.1				3/3																		HIGH	1	SNV	3			1										PASS		rs753118485	.												A	5	1	79	22392982	22392982	C	A	1	0	0	0	0	0	0	1	0	18796	579	20	2		2	ZNF98	19	22392982	Splice_Site	SNP	C	C3N-01416_TP	20814568	22392982	36224634	78	25946											
ZNF91	0	.	GRCh38	chr19	23361925	23361925	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttgccacattctttacAtttgtagggtttctctccag	7	17	7	10	0	2	0	0	0	2	0	4	0	3	0	2	1	3	3	2	1	2	7	rs753123290		C3N-01416_TP	C3N-01416_NB	A	A																c.1054T>A	p.Cys352Ser	p.C352S	ENST00000300619	4/4	161	142	19	295	295	0	varscan-mutect	ZNF91,missense_variant,p.Cys352Ser,ENST00000300619,NM_003430.3;ZNF91,missense_variant,p.Cys320Ser,ENST00000397082,NM_001300951.1;ZNF91,intron_variant,,ENST00000599743,;ZNF91,downstream_gene_variant,,ENST00000595533,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000596528,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000593341,;	T	ENST00000300619	Transcript	missense_variant	1260/5489	1054/3576	352/1191	C/S	Tgt/Agt	rs753123290	1		-1	ZNF91	HGNC	HGNC:13166	protein_coding	YES	CCDS42541.1	ENSP00000300619	Q05481		UPI00002038F9	NM_003430.3	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF195,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs753123290	.												T	3	4	79	23361925	23361925	A	T	1	0	0	0	0	1	0	0	0	18793	217	8	4		4	ZNF91	19	23361925	Missense_Mutation	SNP	A	C3N-01416_TP	968943	23361925	35255691	79	25947											
RHPN2	0	.	GRCh38	chr19	33011719	33011719	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgccgtgtgggcgggaagaAtcgactctcgacaaagccca	10	6	13	12	4	1	1	0	0	1	1	3	4	1	2	2	2	2	0	2	2	3	0	novel		C3N-01416_TP	C3N-01416_NB	A	A																c.553T>C	p.Phe185Leu	p.F185L	ENST00000254260	6/15	477	384	93	594	594	0	strelka-varscan-mutect	RHPN2,missense_variant,p.Phe185Leu,ENST00000254260,NM_033103.4;RHPN2,3_prime_UTR_variant,,ENST00000588388,;RHPN2,intron_variant,,ENST00000544458,;	G	ENST00000254260	Transcript	missense_variant	589/3500	553/2061	185/686	F/L	Ttc/Ctc		1		-1	RHPN2	HGNC	HGNC:19974	protein_coding	YES	CCDS12427.1	ENSP00000254260	Q8IUC4		UPI00000747A3	NM_033103.4	deleterious(0.02)		6/15		PROSITE_profiles:PS51180,hmmpanther:PTHR23031,hmmpanther:PTHR23031:SF5,Pfam_domain:PF03097,Gene3D:2xs1A01,SMART_domains:SM01041																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	79	33011719	33011719	A	G	1	0	0	0	0	1	0	0	0	13524	101	4	5		5	RHPN2	19	33011719	Missense_Mutation	SNP	A	C3N-01416_TP	9649794	33011719	25605897	80	25948											
RYR1	0	.	GRCh38	chr19	38486032	38486032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccagctgctggggcagcaGaggccccggcccgcctcagc	5	4	15	17	2	1	1	1	0	0	1	1	1	1	1	5	4	5	4	5	4	0	0	novel		C3N-01416_TP	C3N-01416_NB	G	G																c.5377G>C	p.Glu1793Gln	p.E1793Q	ENST00000359596	34/106	162	152	10	192	192	0	strelka-varscan-mutect	RYR1,missense_variant,p.Glu1793Gln,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Glu1793Gln,ENST00000359596,NM_000540.2;	C	ENST00000359596	Transcript	missense_variant	5377/15117	5377/15117	1793/5038	E/Q	Gag/Cag		1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2	tolerated(0.14)		34/106		Low_complexity_(Seg):seg,hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	79	38486032	38486032	G	C	1	0	0	0	0	1	0	0	0	14028	943	33	4		4	RYR1	19	38486032	Missense_Mutation	SNP	G	C3N-01416_TP	5474313	38486032	20131584	81	25949											
SPTBN4	0	.	GRCh38	chr19	40556162	40556162	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgaggagcgccgggtGgctctggaacagcagtactg	7	7	18	9	2	1	1	0	1	1	0	1	3	1	3	1	5	4	3	1	5	2	1	novel		C3N-01416_TP	C3N-01416_NB	G	G																c.5163G>A	p.=	p.V1721V	ENST00000352632	25/36	118	93	25	132	132	0	strelka-mutect	SPTBN4,synonymous_variant,p.=,ENST00000338932,;SPTBN4,synonymous_variant,p.=,ENST00000352632,;SPTBN4,synonymous_variant,p.=,ENST00000392025,;SPTBN4,synonymous_variant,p.=,ENST00000598249,NM_020971.2;SPTBN4,synonymous_variant,p.=,ENST00000595535,;SPTBN4,synonymous_variant,p.=,ENST00000392023,NM_025213.2;SPTBN4,3_prime_UTR_variant,,ENST00000597389,;SPTBN4,downstream_gene_variant,,ENST00000596900,;	A	ENST00000352632	Transcript	synonymous_variant	5249/8676	5163/7695	1721/2564	V	gtG/gtA		1		1	SPTBN4	HGNC	HGNC:14896	protein_coding	YES	CCDS12559.1	ENSP00000263373	Q9H254		UPI0000135DBB				25/36		Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF232,SMART_domains:SM00150,Superfamily_domains:SSF46966																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	79	40556162	40556162	G	A	1	0	0	0	0	0	0	0	1	15477	1335	47	3		3	SPTBN4	19	40556162	Silent	SNP	G	C3N-01416_TP	2070130	40556162	18061454	82	25950											
ESF1	0	.	GRCh38	chr20	13714896	13714896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgactttttgcttttttCttgcttgaaactgctctgtt	5	23	6	7	0	2	2	0	2	2	0	2	2	2	2	0	0	4	4	0	0	1	9	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.2534G>A	p.Arg845Lys	p.R845K	ENST00000202816	14/14	93	84	9	133	131	2	strelka-varscan	ESF1,missense_variant,p.Arg845Lys,ENST00000202816,NM_001276380.1,NM_016649.3;	T	ENST00000202816	Transcript	missense_variant	2642/3216	2534/2556	845/851	R/K	aGa/aAa		1		-1	ESF1	HGNC	HGNC:15898	protein_coding	YES	CCDS13117.1	ENSP00000202816	Q9H501		UPI00001285C8	NM_001276380.1,NM_016649.3	deleterious(0.01)		14/14		hmmpanther:PTHR12202:SF1,hmmpanther:PTHR12202																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	79	13714896	13714896	C	T	1	0	0	0	0	1	0	0	0	5113	913	32	3		3	ESF1	20	13714896	Missense_Mutation	SNP	C	C3N-01416_TP		13714896	50729271	83	25951											
CBFA2T2	0	.	GRCh38	chr20	33623873	33623873	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggtaagaaactctactctaGagaatttatgggtcgactgt	12	12	10	7	2	2	2	0	0	2	2	3	4	2	2	0	2	2	1	0	2	6	5	novel		C3N-01416_TP	C3N-01416_NB	G	G																c.733G>C	p.Glu245Gln	p.E245Q	ENST00000344201	6/6	147	138	9	225	225	0	strelka-varscan-mutect	CBFA2T2,missense_variant,p.Glu245Gln,ENST00000344201,;CBFA2T2,intron_variant,,ENST00000492345,;CBFA2T2,intron_variant,,ENST00000346541,NM_005093.3;CBFA2T2,intron_variant,,ENST00000375279,;CBFA2T2,intron_variant,,ENST00000397800,NM_001039709.1;CBFA2T2,intron_variant,,ENST00000359606,;CBFA2T2,intron_variant,,ENST00000342704,NM_001032999.2;CBFA2T2,intron_variant,,ENST00000491618,;	C	ENST00000344201	Transcript	missense_variant	1100/1181	733/792	245/263	E/Q	Gag/Cag		1		1	CBFA2T2	HGNC	HGNC:1536	protein_coding			ENSP00000341865	O43439		UPI000013E65D		deleterious_low_confidence(0)		6/6																			MODERATE		SNV	1			1										PASS		.	.												C	3	2	79	33623873	33623873	G	C	1	0	0	0	0	1	0	0	0	2398	943	33	4		4	CBFA2T2	20	33623873	Missense_Mutation	SNP	G	C3N-01416_TP	19908977	33623873	30820294	84	25952											
CBFA2T2	0	.	GRCh38	chr20	33624783	33624783	+	Missense_Mutation	SNP	G	G	C																															ggagagaagagaatagttttGatagagacacaattgctcct																								novel		C3N-01416_TP	C3N-01416_NB	G	G																c.739G>C	p.Asp247His	p.D247H	ENST00000346541	7/12	158	148	10	197	197	0	strelka-varscan-mutect	CBFA2T2,missense_variant,p.Asp218His,ENST00000492345,;CBFA2T2,missense_variant,p.Asp247His,ENST00000346541,NM_005093.3;CBFA2T2,missense_variant,p.Asp247His,ENST00000375279,;CBFA2T2,missense_variant,p.Asp218His,ENST00000397800,NM_001039709.1;CBFA2T2,missense_variant,p.Asp257His,ENST00000359606,;CBFA2T2,missense_variant,p.Asp238His,ENST00000342704,NM_001032999.2;CBFA2T2,downstream_gene_variant,,ENST00000344201,;CBFA2T2,non_coding_transcript_exon_variant,,ENST00000491618,;	C	ENST00000346541	Transcript	missense_variant	1276/7737	739/1815	247/604	D/H	Gat/Cat		1		1	CBFA2T2	HGNC	HGNC:1536	protein_coding	YES	CCDS13221.1	ENSP00000262653	O43439		UPI0000073E07	NM_005093.3	tolerated(0.09)		7/12		hmmpanther:PTHR10379:SF13,hmmpanther:PTHR10379																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	79	33624783	33624783	G	C	1	0	0	0	0	1	0	0	0	2398	1290	45	4		4	CBFA2T2	20	33624783	Missense_Mutation	SNP	G	C3N-01416_TP	910	33624783	30819384	85	25953	553	2									
CBFA2T2	0	.	GRCh38	chr20	33624787	33624787	+	Missense_Mutation	SNP	G	G	A																															agaagagaatagttttgataGagacacaattgctcctgagc																								novel		C3N-01416_TP	C3N-01416_NB	G	G																c.743G>A	p.Arg248Lys	p.R248K	ENST00000346541	7/12	170	160	10	214	213	1	strelka-varscan-mutect	CBFA2T2,missense_variant,p.Arg219Lys,ENST00000492345,;CBFA2T2,missense_variant,p.Arg248Lys,ENST00000346541,NM_005093.3;CBFA2T2,missense_variant,p.Arg248Lys,ENST00000375279,;CBFA2T2,missense_variant,p.Arg219Lys,ENST00000397800,NM_001039709.1;CBFA2T2,missense_variant,p.Arg258Lys,ENST00000359606,;CBFA2T2,missense_variant,p.Arg239Lys,ENST00000342704,NM_001032999.2;CBFA2T2,downstream_gene_variant,,ENST00000344201,;CBFA2T2,non_coding_transcript_exon_variant,,ENST00000491618,;	A	ENST00000346541	Transcript	missense_variant	1280/7737	743/1815	248/604	R/K	aGa/aAa		1		1	CBFA2T2	HGNC	HGNC:1536	protein_coding	YES	CCDS13221.1	ENSP00000262653	O43439		UPI0000073E07	NM_005093.3	tolerated(0.13)		7/12		hmmpanther:PTHR10379:SF13,hmmpanther:PTHR10379																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	79	33624787	33624787	G	A	1	0	0	0	0	1	0	0	0	2398	942	33	3		3	CBFA2T2	20	33624787	Missense_Mutation	SNP	G	C3N-01416_TP	4	33624787	30819380	86	25954	553	2									
CEP250	0	.	GRCh38	chr20	35490728	35490728	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaaatgaggctaaaggAgcagcagacagaaatggagg	16	4	16	5	0	0	3	0	1	0	2	0	6	0	6	0	5	2	4	0	5	4	1	novel		C3N-01416_TP	C3N-01416_NB	A	A																c.2678A>T	p.Glu893Val	p.E893V	ENST00000397527	21/35	216	153	63	283	283	0	strelka-varscan-mutect	CEP250,missense_variant,p.Glu893Val,ENST00000397527,NM_007186.4;RP3-477O4.14,intron_variant,,ENST00000453914,;RP3-477O4.14,intron_variant,,ENST00000416260,;RP3-477O4.14,intron_variant,,ENST00000444933,;CEP250,upstream_gene_variant,,ENST00000487467,;	T	ENST00000397527	Transcript	missense_variant	3398/15703	2678/7329	893/2442	E/V	gAg/gTg		1		1	CEP250	HGNC	HGNC:1859	protein_coding	YES	CCDS13255.1	ENSP00000380661	Q9BV73		UPI000006FE8F	NM_007186.4	deleterious(0)		21/35		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159:SF1,hmmpanther:PTHR23159																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	79	35490728	35490728	A	T	1	0	0	0	0	1	0	0	0	2968	304	11	4		4	CEP250	20	35490728	Missense_Mutation	SNP	A	C3N-01416_TP	1865941	35490728	28953439	87	25955											
GID8	0	.	GRCh38	chr20	62943606	62943606	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagagtgcctcacagagAtggagcgtaccctggcactg	9	6	14	12	2	1	2	1	0	0	2	1	5	1	3	3	2	3	2	3	2	1	1	novel		C3N-01416_TP	C3N-01416_NB	A	A																c.427A>G	p.Met143Val	p.M143V	ENST00000266069	4/5	265	219	46	299	299	0	strelka-varscan-mutect	GID8,missense_variant,p.Met143Val,ENST00000266069,NM_017896.2;GID8,downstream_gene_variant,,ENST00000497101,;	G	ENST00000266069	Transcript	missense_variant	574/4397	427/687	143/228	M/V	Atg/Gtg		1		1	GID8	HGNC	HGNC:15857	protein_coding	YES	CCDS13510.1	ENSP00000266069	Q9NWU2		UPI0000034E17	NM_017896.2	deleterious(0.04)		4/5		Pfam_domain:PF10607,hmmpanther:PTHR12864,SMART_domains:SM00757																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	79	62943606	62943606	A	G	1	0	0	0	0	1	0	0	0	6255	333	12	5		5	GID8	20	62943606	Missense_Mutation	SNP	A	C3N-01416_TP	27452878	62943606	1500561	88	25956											
DSCAM	0	.	GRCh38	chr21	40142687	40142687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctatggcttggacattttCgggggggtaactgggcactg	6	12	16	7	1	0	0	0	0	0	0	1	1	0	1	0	6	2	4	0	6	2	5	rs759720915		C3N-01416_TP	C3N-01416_NB	C	C																c.3277G>A	p.Glu1093Lys	p.E1093K	ENST00000400454	18/33	100	83	17	137	137	0	strelka-varscan-mutect	DSCAM,missense_variant,p.Glu1093Lys,ENST00000400454,NM_001389.3,NM_001271534.1;DSCAM,missense_variant,p.Glu928Lys,ENST00000617870,;DSCAM,missense_variant,p.Glu845Lys,ENST00000404019,;	T	ENST00000400454	Transcript	missense_variant	3755/8552	3277/6039	1093/2012	E/K	Gaa/Aaa	rs759720915	1		-1	DSCAM	HGNC	HGNC:3039	protein_coding	YES	CCDS42929.1	ENSP00000383303	O60469		UPI00000422DF	NM_001389.3,NM_001271534.1	deleterious(0.01)		18/33		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs759720915	.												T	3	4	79	40142687	40142687	C	T	1	0	0	0	0	1	0	0	0	4589	893	31	1		1	DSCAM	21	40142687	Missense_Mutation	SNP	C	C3N-01416_TP		40142687	6567296	89	25957											
XPNPEP3	0	.	GRCh38	chr22	40924437	40924437	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacactccagacatgcccCgttccctccctctgcagcct	7	9	6	19	1	1	2	0	1	1	1	4	2	4	2	6	0	3	2	6	0	0	1	rs374335250		C3N-01416_TP	C3N-01416_NB	C	C																c.1312C>G	p.Arg438Gly	p.R438G	ENST00000357137	9/10	469	425	44	668	667	1	strelka-varscan-mutect	XPNPEP3,missense_variant,p.Arg438Gly,ENST00000357137,NM_022098.3;XPNPEP3,3_prime_UTR_variant,,ENST00000428799,;	G	ENST00000357137	Transcript	missense_variant	1396/7988	1312/1524	438/507	R/G	Cgt/Ggt	rs374335250	1		1	XPNPEP3	HGNC	HGNC:28052	protein_coding	YES	CCDS14007.1	ENSP00000349658	Q9NQH7		UPI00000401E0	NM_022098.3	deleterious(0)		9/10		Gene3D:3.90.230.10,Pfam_domain:PF00557,hmmpanther:PTHR10804,hmmpanther:PTHR10804:SF17,Superfamily_domains:SSF55920																	MODERATE	1	SNV	1			1										PASS		rs374335250	.												G	3	3	79	40924437	40924437	C	G	1	0	0	0	0	1	0	0	0	18003	652	23	4		4	XPNPEP3	22	40924437	Missense_Mutation	SNP	C	C3N-01416_TP		40924437	9894031	90	25958											
MXRA5	0	.	GRCh38	chrX	3310414	3310414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgtgtagcatgccgtcagCcttgtggtagaagcgctgca	9	10	13	9	2	1	1	1	0	0	1	1	1	1	1	2	1	5	5	2	1	4	3	novel		C3N-01416_TP	C3N-01416_NB	C	C																c.7789G>A	p.Ala2597Thr	p.A2597T	ENST00000217939	7/7	374	314	60	352	352	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Ala2597Thr,ENST00000217939,NM_015419.3;	T	ENST00000217939	Transcript	missense_variant	7944/9793	7789/8487	2597/2828	A/T	Gct/Act		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	tolerated(0.55)		7/7		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	79	3310414	3310414	C	T	1	0	0	0	0	1	0	0	0	10002	739	26	3		3	MXRA5	23	3310414	Missense_Mutation	SNP	C	C3N-01416_TP		3310414	152730481	91	25959											
KLHL34	0	.	GRCh38	chrX	21656493	21656493	+	Silent	SNP	G	G	A																															acctcaccgcccgcacccagGcccccgacggccaggagcct																								novel		C3N-01416_TP	C3N-01416_NB	G	G																c.1296C>T	p.=	p.G432G	ENST00000379499	1/1	215	189	26	259	259	0	strelka-varscan-mutect	KLHL34,synonymous_variant,p.=,ENST00000379499,NM_153270.2;CNKSR2,downstream_gene_variant,,ENST00000425654,NM_001168647.1;CNKSR2,downstream_gene_variant,,ENST00000379510,NM_014927.3;	A	ENST00000379499	Transcript	synonymous_variant	1838/3641	1296/1935	432/644	G	ggC/ggT		1		-1	KLHL34	HGNC	HGNC:26634	protein_coding	YES	CCDS14199.1	ENSP00000368813	Q8N239		UPI0000072CC4	NM_153270.2			1/1		Superfamily_domains:0052715,Gene3D:1zgkA00,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF199,Low_complexity_(Seg):seg,SMART_domains:SM00612																	LOW		SNV				1										PASS		.	.												A	2	1	79	21656493	21656493	G	A	1	0	0	0	0	0	0	0	1	8253	1190	42	3		3	KLHL34	23	21656493	Silent	SNP	G	C3N-01416_TP	18346079	21656493	134384402	92	25960	554	2									
KLHL34	0	.	GRCh38	chrX	21656496	21656496	+	Silent	SNP	C	C	G																															tcaccgcccgcacccaggccCccgacggccaggagcctctc																								novel		C3N-01416_TP	C3N-01416_NB	C	C																c.1293G>C	p.=	p.G431G	ENST00000379499	1/1	214	186	28	258	258	0	strelka-varscan-mutect	KLHL34,synonymous_variant,p.=,ENST00000379499,NM_153270.2;CNKSR2,downstream_gene_variant,,ENST00000425654,NM_001168647.1;CNKSR2,downstream_gene_variant,,ENST00000379510,NM_014927.3;	G	ENST00000379499	Transcript	synonymous_variant	1835/3641	1293/1935	431/644	G	ggG/ggC		1		-1	KLHL34	HGNC	HGNC:26634	protein_coding	YES	CCDS14199.1	ENSP00000368813	Q8N239		UPI0000072CC4	NM_153270.2			1/1		Superfamily_domains:0052715,Gene3D:1zgkA00,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF199,Low_complexity_(Seg):seg,SMART_domains:SM00612																	LOW		SNV				1										PASS		.	.												G	2	3	79	21656496	21656496	C	G	1	0	0	0	0	0	0	0	1	8253	610	22	4		4	KLHL34	23	21656496	Silent	SNP	C	C3N-01416_TP	3	21656496	134384399	93	25961	554	2									
USP51	0	.	GRCh38	chrX	55488029	55488029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcaaaattttttcttttGtttctttggcaatctgttct	7	23	4	7	0	5	0	1	0	5	0	6	0	5	0	0	1	0	3	0	1	3	8	novel		C3N-01416_TP	C3N-01416_NB	G	G																c.911C>A	p.Thr304Lys	p.T304K	ENST00000500968	2/2	110	103	7	166	166	0	varscan-mutect	USP51,missense_variant,p.Thr304Lys,ENST00000500968,NM_201286.3;USP51,intron_variant,,ENST00000586165,;	T	ENST00000500968	Transcript	missense_variant	994/4407	911/2136	304/711	T/K	aCa/aAa		1		-1	USP51	HGNC	HGNC:23086	protein_coding	YES	CCDS14370.1	ENSP00000423333	Q70EK9		UPI0000232F07	NM_201286.3	tolerated(0.37)		2/2		Gene3D:3.30.40.10,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF398																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	79	55488029	55488029	G	T	1	0	0	0	0	1	0	0	0	17626	1377	48	2		2	USP51	23	55488029	Missense_Mutation	SNP	G	C3N-01416_TP	33831533	55488029	100552866	94	25962											
RAB40AL	0	.	GRCh38	chrX	102937895	102937895	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagcaaggtactgagcttgCaagacctctgctgccgcacc	9	7	11	14	2	1	2	0	1	1	1	1	3	1	2	3	1	6	6	3	1	3	2	rs780011542		C3N-01416_TP	C3N-01416_NB	C	C																c.577C>T	p.Gln193Ter	p.Q193*	ENST00000218249	1/1	255	217	38	372	372	0	strelka-varscan-mutect	RAB40AL,stop_gained,p.Gln193Ter,ENST00000218249,NM_001031834.1;LL0XNC01-237H1.3,non_coding_transcript_exon_variant,,ENST00000413528,;	T	ENST00000218249	Transcript	stop_gained	624/1029	577/837	193/278	Q/*	Caa/Taa	rs780011542	1		1	RAB40AL	HGNC	HGNC:25410	protein_coding	YES	CCDS35353.1	ENSP00000218249	P0C0E4		UPI000013C751	NM_001031834.1			1/1		PROSITE_profiles:PS50225,PROSITE_profiles:PS51419,Pfam_domain:PF07525,SMART_domains:SM00253,SMART_domains:SM00969,SMART_domains:SM00176,Superfamily_domains:SSF158235																	HIGH		SNV				1										PASS		rs780011542	.												T	4	4	79	102937895	102937895	C	T	1	0	0	0	0	0	1	0	0	13099	711	25	3		3	RAB40AL	23	102937895	Nonsense_Mutation	SNP	C	C3N-01416_TP	47449866	102937895	53103000	95	25963											
NRK	0	.	GRCh38	chrX	105912653	105912653	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttttgtttcaaaggacaaAgaagatgaatcatcagacaa	17	11	7	6	0	3	4	3	1	0	3	3	5	3	5	0	1	0	1	0	1	5	3	rs764035983		C3N-01416_TP	C3N-01416_NB	A	A																c.2247A>T	p.Lys749Asn	p.K749N	ENST00000243300	14/29	93	83	10	153	153	0	strelka-varscan-mutect	NRK,missense_variant,p.Lys749Asn,ENST00000243300,NM_198465.3;NRK,3_prime_UTR_variant,,ENST00000428173,;	T	ENST00000243300	Transcript	missense_variant	2550/8062	2247/4749	749/1582	K/N	aaA/aaT	rs764035983	1		1	NRK	HGNC	HGNC:25391	protein_coding	YES	CCDS65305.1	ENSP00000434830	Q7Z2Y5		UPI0000418886	NM_198465.3	tolerated(0.1)		14/29		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		rs764035983	.												T	3	4	79	105912653	105912653	A	T	1	0	0	0	0	1	0	0	0	10713	86	3	4		4	NRK	23	105912653	Missense_Mutation	SNP	A	C3N-01416_TP	2974758	105912653	50128242	96	25964											
AJAP1	0	.	GRCh38	chr1	4712545	4712545	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaccaccaccaccaccacGgccacccccatgacgctgca	11	2	5	23	2	0	1	0	1	0	0	0	1	0	1	9	1	1	2	9	1	0	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.675G>T	p.=	p.T225T	ENST00000378191	2/6	125	110	15	141	141	0	strelka-varscan-mutect	AJAP1,synonymous_variant,p.=,ENST00000378191,NM_018836.3;AJAP1,synonymous_variant,p.=,ENST00000378190,NM_001042478.1;AJAP1,downstream_gene_variant,,ENST00000466761,;	T	ENST00000378191	Transcript	synonymous_variant	1056/11666	675/1236	225/411	T	acG/acT		1		1	AJAP1	HGNC	HGNC:30801	protein_coding	YES	CCDS54.1	ENSP00000367433	Q9UKB5		UPI00000728B8	NM_018836.3			2/6		Low_complexity_(Seg):seg,hmmpanther:PTHR32422,Pfam_domain:PF15298																	LOW	1	SNV	1			1										PASS		rs1459076033	.												T	2	4	80	4712545	4712545	G	T	1	0	0	0	0	0	0	0	1	516	1103	39	1		1	AJAP1	1	4712545	Silent	SNP	G	C3N-01488_TP		4712545	244243877	1	25965											
CHD5	0	.	GRCh38	chr1	6106455	6106455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatccctcccggtccagggcCccggaagttgggcccaaagt	8	6	12	15	2	0	0	0	0	0	0	3	1	3	1	6	4	0	1	6	4	3	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.5797G>A	p.Gly1933Ser	p.G1933S	ENST00000262450	40/42	321	254	67	404	403	1	strelka-varscan-mutect	CHD5,missense_variant,p.Gly1933Ser,ENST00000262450,NM_015557.2;CHD5,intron_variant,,ENST00000475121,;CHD5,3_prime_UTR_variant,,ENST00000496404,;CHD5,intron_variant,,ENST00000462991,;CHD5,intron_variant,,ENST00000377999,;	T	ENST00000262450	Transcript	missense_variant	5897/9646	5797/5865	1933/1954	G/S	Ggc/Agc		1		-1	CHD5	HGNC	HGNC:16816	protein_coding	YES	CCDS57.1	ENSP00000262450	Q8TDI0		UPI000006CD03	NM_015557.2	tolerated_low_confidence(0.14)		40/42		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	6106455	6106455	C	T	1	0	0	0	0	1	0	0	0	3087	623	22	3		3	CHD5	1	6106455	Missense_Mutation	SNP	C	C3N-01488_TP	1393910	6106455	242849967	2	25966											
C1orf127	0	.	GRCh38	chr1	10969972	10969972	+	Frame_Shift_Del	DEL	G	G	-																															ccaccgaccacctcttacctGgcaagtgcaaggtcctggcc																								novel		C3N-01488_TP	C3N-01488_NB	G	G																c.245delC	p.Pro82GlnfsTer58	p.P82Qfs*58	ENST00000377004	3/13	77	62	15	118	118	0	sindel-varindel-pindel	C1orf127,frameshift_variant,p.Pro82GlnfsTer58,ENST00000377004,NM_001170754.1;C1orf127,frameshift_variant,p.Pro60GlnfsTer58,ENST00000520253,;	-	ENST00000377004	Transcript	frameshift_variant,splice_region_variant	245/2761	245/2472	82/823	P/X	cCa/ca		1		-1	C1orf127	HGNC	HGNC:26730	protein_coding	YES	CCDS53267.1	ENSP00000366203		G8JLG8	UPI0001C0B385	NM_001170754.1			3/13		hmmpanther:PTHR38653																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	80	10969972	10969972	G	-	1	0	1	0	1	0	0	0	0	1964	1362	47	0		0	C1orf127	1	10969972	Frame_Shift_Del	DEL	G	C3N-01488_TP	4863517	10969972	237986450	3	25967											
CLCN6	0	.	GRCh38	chr1	11819523	11819523	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttttttgtgcgactcttCacccaactcaagttcggagt	8	14	8	11	2	3	0	2	0	1	0	4	3	3	1	1	1	2	1	1	1	2	5	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.315C>A	p.Phe105Leu	p.F105L	ENST00000346436	5/23	272	251	21	362	362	0	strelka-varscan-mutect	CLCN6,missense_variant,p.Phe83Leu,ENST00000312413,NM_001256959.1;CLCN6,missense_variant,p.Phe105Leu,ENST00000346436,NM_001286.3;CLCN6,missense_variant,p.Phe105Leu,ENST00000376496,;CLCN6,missense_variant,p.Phe105Leu,ENST00000376497,;CLCN6,non_coding_transcript_exon_variant,,ENST00000376492,;CLCN6,non_coding_transcript_exon_variant,,ENST00000376490,;CLCN6,non_coding_transcript_exon_variant,,ENST00000376491,;	A	ENST00000346436	Transcript	missense_variant	367/5583	315/2610	105/869	F/L	ttC/ttA		1		1	CLCN6	HGNC	HGNC:2024	protein_coding	YES	CCDS138.1	ENSP00000234488	P51797		UPI000013F2D3	NM_001286.3	tolerated(1)		5/23		Gene3D:1otsB00,Prints_domain:PR01117,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF59,Superfamily_domains:SSF81340																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	11819523	11819523	C	A	1	0	0	0	0	1	0	0	0	3231	825	29	2		2	CLCN6	1	11819523	Missense_Mutation	SNP	C	C3N-01488_TP	849551	11819523	237136899	4	25968											
PRAMEF15	0	.	GRCh38	chr1	13318430	13318430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgagcatccggactcCacccagactcctggagcttg	10	7	11	13	1	0	3	0	1	0	2	3	6	3	5	4	2	2	2	4	2	1	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.23C>A	p.Pro8Gln	p.P8Q	ENST00000376152	2/4	631	576	55	905	905	0	varscan-mutect	PRAMEF15,missense_variant,p.Pro8Gln,ENST00000376152,NM_001098376.2;PRAMEF15,missense_variant,p.Pro6Gln,ENST00000613530,;	A	ENST00000376152	Transcript	missense_variant	117/1865	23/1437	8/478	P/Q	cCa/cAa		1		1	PRAMEF15	HGNC	HGNC:26764	protein_coding	YES	CCDS44059.1	ENSP00000365322	Q5VWM5		UPI0000199BA7	NM_001098376.2	deleterious(0)		2/4		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF19,PIRSF_domain:PIRSF038286																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	13318430	13318430	C	A	1	0	0	0	0	1	0	0	0	12559	594	21	2		2	PRAMEF15	1	13318430	Missense_Mutation	SNP	C	C3N-01488_TP	1498907	13318430	235637992	5	25969											
PRAMEF15	0	.	GRCh38	chr1	13318481	13318481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgagggaccaagcttTggccatgtccaccctggagg	7	8	13	13	0	0	1	0	1	0	0	1	3	1	3	5	4	2	2	5	4	1	1	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.74T>C	p.Leu25Ser	p.L25S	ENST00000376152	2/4	897	845	52	1334	1334	0	varscan-mutect	PRAMEF15,missense_variant,p.Leu25Ser,ENST00000376152,NM_001098376.2;PRAMEF15,missense_variant,p.Leu23Ser,ENST00000613530,;	C	ENST00000376152	Transcript	missense_variant	168/1865	74/1437	25/478	L/S	tTg/tCg		1		1	PRAMEF15	HGNC	HGNC:26764	protein_coding	YES	CCDS44059.1	ENSP00000365322	Q5VWM5		UPI0000199BA7	NM_001098376.2	tolerated(0.31)		2/4		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF19,PIRSF_domain:PIRSF038286																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	80	13318481	13318481	T	C	1	0	0	0	0	1	0	0	0	12559	1821	63	5		5	PRAMEF15	1	13318481	Missense_Mutation	SNP	T	C3N-01488_TP	51	13318481	235637941	6	25970											
CLCNKB	0	.	GRCh38	chr1	16056491	16056491	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggggcagagctgtgggcTgcgtgtcctgggtggaggta	4	8	21	8	3	0	1	0	0	0	1	1	2	1	2	1	6	2	4	1	6	1	1	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.1999T>A	p.Cys667Ser	p.C667S	ENST00000375679	19/20	157	139	18	229	229	0	strelka-varscan-mutect	CLCNKB,missense_variant,p.Cys667Ser,ENST00000375679,NM_000085.4;CLCNKB,missense_variant,p.Cys497Ser,ENST00000375667,NM_001165945.2;CLCNKB,intron_variant,,ENST00000619181,;CLCNKB,intron_variant,,ENST00000431772,;FAM131C,downstream_gene_variant,,ENST00000375662,NM_182623.2;FAM131C,downstream_gene_variant,,ENST00000494078,;	A	ENST00000375679	Transcript	missense_variant	2110/2567	1999/2064	667/687	C/S	Tgc/Agc		1		1	CLCNKB	HGNC	HGNC:2027	protein_coding	YES	CCDS168.1	ENSP00000364831	P51801		UPI000040E261	NM_000085.4	tolerated(0.56)		19/20		PROSITE_profiles:PS51371,hmmpanther:PTHR11689:SF95,hmmpanther:PTHR11689,Gene3D:3.10.580.10,SMART_domains:SM00116,Superfamily_domains:SSF54631																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	16056491	16056491	T	A	1	0	0	0	0	1	0	0	0	3234	1580	55	4		4	CLCNKB	1	16056491	Missense_Mutation	SNP	T	C3N-01488_TP	2738010	16056491	232899931	7	25971											
AIM1L	0	.	GRCh38	chr1	26346572	26346572	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatgtttgatctcttccTgggtggggggccgctgccgc	4	11	14	12	2	1	1	0	1	1	0	3	1	2	1	4	4	2	2	4	4	1	2	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.86A>C	p.Gln29Pro	p.Q29P	ENST00000308182	2/20	120	112	8	187	187	0	strelka-varscan-mutect	AIM1L,missense_variant,p.Gln29Pro,ENST00000308182,NM_001039775.3;AIM1L,missense_variant,p.Gln29Pro,ENST00000475866,;AIM1L,upstream_gene_variant,,ENST00000527815,;AIM1L,intron_variant,,ENST00000374207,;	G	ENST00000308182	Transcript	missense_variant	236/5245	86/4986	29/1661	Q/P	cAg/cCg		1		-1	AIM1L	HGNC	HGNC:17295	protein_coding	YES		ENSP00000310435	Q8N1P7		UPI0001DD21C3	NM_001039775.3	tolerated_low_confidence(0.07)		2/20																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	80	26346572	26346572	T	G	1	0	0	0	0	1	0	0	0	508	1580	55	5		5	AIM1L	1	26346572	Missense_Mutation	SNP	T	C3N-01488_TP	10290081	26346572	222609850	8	25972											
LIN28A	0	.	GRCh38	chr1	26411449	26411449	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacgcggcccgggcggCggacgagcctcagctgctgc	5	3	19	14	6	1	0	1	0	0	0	1	4	1	3	2	6	4	2	2	6	0	0	rs372648933		C3N-01488_TP	C3N-01488_NB	C	C																c.95C>A	p.Ala32Glu	p.A32E	ENST00000326279	2/4	179	142	37	211	211	0	strelka-varscan-mutect	LIN28A,missense_variant,p.Ala32Glu,ENST00000326279,NM_024674.4;LIN28A,missense_variant,p.Ala32Glu,ENST00000254231,;	A	ENST00000326279	Transcript	missense_variant	209/4008	95/630	32/209	A/E	gCg/gAg	rs372648933	1		1	LIN28A	HGNC	HGNC:15986	protein_coding	YES	CCDS280.1	ENSP00000363314	Q9H9Z2		UPI000006F0DA	NM_024674.4	tolerated(1)		2/4		Low_complexity_(Seg):seg,hmmpanther:PTHR11544,hmmpanther:PTHR11544:SF31																	MODERATE	1	SNV	1			1										PASS		rs372648933	.												A	3	1	80	26411449	26411449	C	A	1	0	0	0	0	1	0	0	0	8713	768	27	1		1	LIN28A	1	26411449	Missense_Mutation	SNP	C	C3N-01488_TP	64877	26411449	222544973	9	25973											
ARID1A	0	.	GRCh38	chr1	26779116	26779116	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtatgaggtgggtgacccaGgacagagaacgctactggat	12	7	15	7	1	0	3	0	2	0	1	0	6	0	5	1	4	2	2	1	4	3	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.5218G>T	p.Gly1740Ter	p.G1740*	ENST00000324856	20/20	24	20	4	51	51	0	strelka-varscan-mutect	ARID1A,stop_gained,p.Gly1740Ter,ENST00000324856,NM_006015.4;ARID1A,stop_gained,p.Gly1358Ter,ENST00000636219,;ARID1A,stop_gained,p.Gly1356Ter,ENST00000430799,;ARID1A,stop_gained,p.Gly1357Ter,ENST00000374152,;ARID1A,stop_gained,p.Gly1523Ter,ENST00000457599,NM_139135.2;ARID1A,downstream_gene_variant,,ENST00000615191,;ARID1A,downstream_gene_variant,,ENST00000636794,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;ARID1A,non_coding_transcript_exon_variant,,ENST00000637788,;ARID1A,downstream_gene_variant,,ENST00000636072,;	T	ENST00000324856	Transcript	stop_gained	5589/8577	5218/6858	1740/2285	G/*	Gga/Tga		1		1	ARID1A	HGNC	HGNC:11110	protein_coding	YES	CCDS285.1	ENSP00000320485	O14497		UPI0000167B91	NM_006015.4			20/20		hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	80	26779116	26779116	G	T	1	0	0	0	0	0	1	0	0	1049	1001	35	2		2	ARID1A	1	26779116	Nonsense_Mutation	SNP	G	C3N-01488_TP	367667	26779116	222177306	10	25974											
DLGAP3	0	.	GRCh38	chr1	34905098	34905098	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggtgtcgaaggggccctGgccagggtacatcctgggga	8	6	17	10	1	0	0	0	0	0	0	2	2	1	1	3	7	1	1	3	7	2	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.286C>A	p.Gln96Lys	p.Q96K	ENST00000373347	3/12	149	126	23	239	239	0	strelka-varscan-mutect	DLGAP3,missense_variant,p.Gln96Lys,ENST00000373347,NM_001080418.2;DLGAP3,missense_variant,p.Gln96Lys,ENST00000235180,;DLGAP3,downstream_gene_variant,,ENST00000495979,;	T	ENST00000373347	Transcript	missense_variant	555/3856	286/2940	96/979	Q/K	Cag/Aag		1		-1	DLGAP3	HGNC	HGNC:30368	protein_coding	YES	CCDS30670.1	ENSP00000362444	O95886		UPI00003D4D81	NM_001080418.2	tolerated(0.21)		3/12		hmmpanther:PTHR12353:SF4,hmmpanther:PTHR12353																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	34905098	34905098	G	T	1	0	0	0	0	1	0	0	0	4368	1357	47	2		2	DLGAP3	1	34905098	Missense_Mutation	SNP	G	C3N-01488_TP	8125982	34905098	214051324	11	25975											
SLFNL1	0	.	GRCh38	chr1	41020431	41020431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatgtgctcccgcgccaccGgcatctccagccgctccagg	6	6	10	19	4	1	0	0	0	1	0	4	0	3	0	6	2	2	3	6	2	1	0	rs141843089		C3N-01488_TP	C3N-01488_NB	G	G																c.230C>A	p.Pro77Gln	p.P77Q	ENST00000359345	1/4	260	227	33	372	372	0	strelka-varscan-mutect	SLFNL1,missense_variant,p.Pro77Gln,ENST00000359345,NM_144990.3;SLFNL1,missense_variant,p.Pro77Gln,ENST00000372613,;SLFNL1,missense_variant,p.Pro77Gln,ENST00000439569,NM_001168247.2;SLFNL1,missense_variant,p.Pro77Gln,ENST00000302946,;SLFNL1,missense_variant,p.Pro77Gln,ENST00000372611,NM_001300859.1;SLFNL1-AS1,intron_variant,,ENST00000626479,;	T	ENST00000359345	Transcript	missense_variant	2807/4310	230/1224	77/407	P/Q	cCg/cAg	rs141843089	1		-1	SLFNL1	HGNC	HGNC:26313	protein_coding	YES	CCDS460.1	ENSP00000352299	Q499Z3	A0A140VJU6	UPI000013E83F	NM_144990.3	deleterious(0.01)		1/4		hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF29																	MODERATE		SNV	2			1										PASS		rs141843089	.												T	3	4	80	41020431	41020431	G	T	1	0	0	0	0	1	0	0	0	15028	1116	39	1		1	SLFNL1	1	41020431	Missense_Mutation	SNP	G	C3N-01488_TP	6115333	41020431	207935991	12	25976											
STIL	0	.	GRCh38	chr1	47251688	47251688	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattaaactaagccccacTgtgcttctgtctgtattaat	12	14	6	9	0	2	0	0	0	2	0	2	1	2	0	2	0	3	2	2	0	6	5	rs748226209		C3N-01488_TP	C3N-01488_NB	T	T																c.3315A>T	p.=	p.T1105T	ENST00000371877	17/17	156	134	22	279	279	0	strelka-varscan-mutect	STIL,synonymous_variant,p.=,ENST00000360380,NM_001282936.1,NM_003035.2;STIL,synonymous_variant,p.=,ENST00000337817,NM_001282939.1,NM_001282938.1;STIL,synonymous_variant,p.=,ENST00000371877,NM_001048166.1;STIL,synonymous_variant,p.=,ENST00000396221,NM_001282937.1;	A	ENST00000371877	Transcript	synonymous_variant	3463/5009	3315/3867	1105/1288	T	acA/acT	rs748226209	1		-1	STIL	HGNC	HGNC:10879	protein_coding	YES	CCDS41329.1	ENSP00000360944	Q15468		UPI00002042D5	NM_001048166.1			17/17		hmmpanther:PTHR15128,hmmpanther:PTHR15128:SF0																	LOW	1	SNV	1			1										PASS		rs748226209	.												A	2	1	80	47251688	47251688	T	A	1	0	0	0	0	0	0	0	1	15659	1567	55	4		4	STIL	1	47251688	Silent	SNP	T	C3N-01488_TP	6231257	47251688	201704734	13	25977											
ROR1	0	.	GRCh38	chr1	64178790	64178790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaaattgactcaaagcaaGcatctttactaggagacgcc	16	8	7	10	1	2	2	1	1	1	1	2	3	2	2	1	1	3	2	1	1	6	4	rs776286055		C3N-01488_TP	C3N-01488_NB	G	G																c.2749G>T	p.Ala917Ser	p.A917S	ENST00000371079	9/9	155	143	12	239	239	0	strelka-varscan-mutect	ROR1,missense_variant,p.Ala917Ser,ENST00000371079,NM_005012.3;ROR1,missense_variant,p.Ala862Ser,ENST00000545203,;	T	ENST00000371079	Transcript	missense_variant	3124/5832	2749/2814	917/937	A/S	Gca/Tca	rs776286055	1		1	ROR1	HGNC	HGNC:10256	protein_coding	YES	CCDS626.1	ENSP00000360120	Q01973		UPI00001AF82C	NM_005012.3	tolerated_low_confidence(0.74)		9/9																			MODERATE	1	SNV	1			1										PASS		rs776286055	.												T	3	4	80	64178790	64178790	G	T	1	0	0	0	0	1	0	0	0	13703	971	34	2		2	ROR1	1	64178790	Missense_Mutation	SNP	G	C3N-01488_TP	16927102	64178790	184777632	14	25978											
SGIP1	0	.	GRCh38	chr1	66682023	66682023	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatacatccccggaacatgtTactccggagttgactccaag	11	9	9	12	2	0	1	0	1	0	0	3	4	3	3	4	2	3	2	4	2	4	3	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.969T>G	p.=	p.V323V	ENST00000371037	15/25	212	195	17	318	317	1	strelka-varscan-mutect	SGIP1,synonymous_variant,p.=,ENST00000371037,NM_032291.2;SGIP1,synonymous_variant,p.=,ENST00000237247,;SGIP1,intron_variant,,ENST00000371039,NM_001308203.1;SGIP1,downstream_gene_variant,,ENST00000424320,;RP4-598P13.1,upstream_gene_variant,,ENST00000502413,;SGIP1,intron_variant,,ENST00000480548,;SGIP1,downstream_gene_variant,,ENST00000468286,;SGIP1,upstream_gene_variant,,ENST00000487507,;	G	ENST00000371037	Transcript	synonymous_variant	1046/7768	969/2487	323/828	V	gtT/gtG		1		1	SGIP1	HGNC	HGNC:25412	protein_coding	YES	CCDS30744.1	ENSP00000360076	Q9BQI5		UPI000045891B	NM_032291.2			15/25																			LOW	1	SNV	1			1										PASS		.	.												G	2	3	80	66682023	66682023	T	G	1	0	0	0	0	0	0	0	1	14466	1741	61	5		5	SGIP1	1	66682023	Silent	SNP	T	C3N-01488_TP	2503233	66682023	182274399	15	25979											
C1orf141	0	.	GRCh38	chr1	67115465	67115465	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatttgaaagagacatgcCtggaagaaataaaaattaat	20	9	7	5	0	0	3	0	1	0	2	0	5	0	4	1	1	1	0	1	1	7	3	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.234-1G>T		p.X78_splice	ENST00000371007		103	82	21	164	164	0	strelka-varscan-mutect	C1orf141,splice_acceptor_variant,,ENST00000371007,NM_001276351.1;C1orf141,splice_acceptor_variant,,ENST00000475209,NM_001276352.1;C1orf141,splice_acceptor_variant,,ENST00000371006,;C1orf141,splice_acceptor_variant,,ENST00000448166,;C1orf141,splice_acceptor_variant,,ENST00000603691,;C1orf141,intron_variant,,ENST00000621590,;C1orf141,splice_acceptor_variant,,ENST00000544837,;C1orf141,intron_variant,,ENST00000371004,;	A	ENST00000371007	Transcript	splice_acceptor_variant	-/2153	234/1203	78/400				1		-1	C1orf141	HGNC	HGNC:32044	protein_coding	YES	CCDS30745.1	ENSP00000360046	Q5JVX7		UPI0000470AFA	NM_001276351.1				4/7																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	80	67115465	67115465	C	A	1	0	0	0	0	0	0	1	0	1966	695	24	2		2	C1orf141	1	67115465	Splice_Site	SNP	C	C3N-01488_TP	433442	67115465	181840957	16	25980											
TNNI3K	0	.	GRCh38	chr1	74369052	74369052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tattctcctcctaagagctgGattgccttcacatttccatc	8	15	5	13	0	2	1	1	0	1	1	6	2	4	2	4	1	2	1	4	1	2	6	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1694G>T	p.Gly565Val	p.G565V	ENST00000557284	16/27	74	62	12	195	195	0	strelka-varscan-mutect	FPGT-TNNI3K,missense_variant,p.Gly552Val,ENST00000370895,;TNNI3K,missense_variant,p.Gly451Val,ENST00000326637,NM_015978.2;FPGT-TNNI3K,missense_variant,p.Gly565Val,ENST00000557284,NM_001112808.2;FPGT-TNNI3K,missense_variant,p.Gly552Val,ENST00000370899,NM_001199327.1;TNNI3K,upstream_gene_variant,,ENST00000526236,;TNNI3K,upstream_gene_variant,,ENST00000534020,;FPGT-TNNI3K,downstream_gene_variant,,ENST00000534632,;TNNI3K,upstream_gene_variant,,ENST00000525480,;RP11-439H8.4,non_coding_transcript_exon_variant,,ENST00000415549,;TNNI3K,non_coding_transcript_exon_variant,,ENST00000497284,;	T	ENST00000557284	Transcript	missense_variant	1699/2855	1694/2850	565/949	G/V	gGa/gTa		1		1	FPGT-TNNI3K	HGNC	HGNC:42952	protein_coding	YES	CCDS44161.2	ENSP00000450895		V9GXZ4	UPI0001EECC26	NM_001112808.2	deleterious(0.03)		16/27		hmmpanther:PTHR23257:SF477,hmmpanther:PTHR23257																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	80	74369052	74369052	G	T	1	0	0	0	0	1	0	0	0	16802	1174	41	2		2	TNNI3K	1	74369052	Missense_Mutation	SNP	G	C3N-01488_TP	7253587	74369052	174587370	17	25981											
ABCA4	0	.	GRCh38	chr1	94031993	94031993	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagccttctctctgggacCcaagcaggggtgtcgggggt	5	9	15	12	1	2	0	0	0	2	0	5	1	3	1	3	5	2	1	3	5	1	1			C3N-01488_TP	C3N-01488_NB	C	C																c.3913G>T	p.Gly1305Cys	p.G1305C	ENST00000370225	27/50	230	212	18	291	289	2	strelka-varscan-mutect	ABCA4,missense_variant,p.Gly1305Cys,ENST00000370225,NM_000350.2;ABCA4,missense_variant,p.Gly97Cys,ENST00000536513,;	A	ENST00000370225	Transcript	missense_variant	4000/7309	3913/6822	1305/2273	G/C	Ggt/Tgt	COSM361384	1		-1	ABCA4	HGNC	HGNC:34	protein_coding	YES	CCDS747.1	ENSP00000359245	P78363		UPI000012511C	NM_000350.2	deleterious(0.03)		27/50		TIGRFAM_domain:TIGR01257											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	80	94031993	94031993	C	A	1	0	0	0	0	1	0	0	0	38	623	22	2		2	ABCA4	1	94031993	Missense_Mutation	SNP	C	C3N-01488_TP	19662941	94031993	154924429	18	25982											
PLPPR4	0	.	GRCh38	chr1	99288103	99288103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccaacccaggaggcaattCcattcctcatgttgcttagc	11	10	7	13	0	1	0	1	0	0	0	3	1	3	1	4	2	4	3	4	2	4	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.361C>A	p.Pro121Thr	p.P121T	ENST00000370185	2/7	183	160	23	260	260	0	strelka-varscan-mutect	PLPPR4,missense_variant,p.Pro121Thr,ENST00000370185,NM_014839.4;PLPPR4,missense_variant,p.Pro121Thr,ENST00000457765,NM_001166252.1;	A	ENST00000370185	Transcript	missense_variant	858/5369	361/2292	121/763	P/T	Cca/Aca		1		1	PLPPR4	HGNC	HGNC:23496	protein_coding	YES	CCDS757.1	ENSP00000359204	Q7Z2D5		UPI0000161229	NM_014839.4	deleterious(0.01)		2/7		hmmpanther:PTHR10165:SF13,hmmpanther:PTHR10165																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	99288103	99288103	C	A	1	0	0	0	0	1	0	0	0	12212	855	30	2		2	PLPPR4	1	99288103	Missense_Mutation	SNP	C	C3N-01488_TP	5256110	99288103	149668319	19	25983											
NTNG1	0	.	GRCh38	chr1	107436746	107436746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtaagactggaacaacagGgcctaagtgtgatgagtgtc	12	9	14	6	0	0	3	0	2	0	1	1	4	0	4	1	2	2	1	1	2	4	2	rs778962536		C3N-01488_TP	C3N-01488_NB	G	G																c.1337G>T	p.Gly446Val	p.G446V	ENST00000370068	7/8	160	136	24	263	262	1	strelka-varscan-mutect	NTNG1,missense_variant,p.Gly446Val,ENST00000370068,;NTNG1,missense_variant,p.Gly446Val,ENST00000370073,NM_001113226.1;NTNG1,intron_variant,,ENST00000370067,;NTNG1,intron_variant,,ENST00000370071,NM_001113228.1;NTNG1,intron_variant,,ENST00000370074,NM_014917.2;NTNG1,intron_variant,,ENST00000370065,;NTNG1,intron_variant,,ENST00000370066,;	T	ENST00000370068	Transcript	missense_variant	2183/4034	1337/1620	446/539	G/V	gGg/gTg	rs778962536,COSM5326094,COSM5326095	1		1	NTNG1	HGNC	HGNC:23319	protein_coding	YES	CCDS44180.1	ENSP00000359085	Q9Y2I2		UPI0000458A3E		deleterious(0.01)		7/8		PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF28,hmmpanther:PTHR10574,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs778962536	.												T	3	4	80	107436746	107436746	G	T	1	0	0	0	0	1	0	0	0	10769	1232	43	2		2	NTNG1	1	107436746	Missense_Mutation	SNP	G	C3N-01488_TP	8148643	107436746	141519676	20	25984											
FNDC7	0	.	GRCh38	chr1	108717910	108717910	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacacagtcattgaaaccacGgtggccaattccccaggcac	12	6	9	14	1	1	1	1	1	0	0	2	2	2	1	4	3	1	1	4	3	2	2	rs754855969		C3N-01488_TP	C3N-01488_NB	G	G																c.216G>T	p.=	p.T72T	ENST00000370017	3/13	411	354	57	541	541	0	strelka-varscan-mutect	FNDC7,synonymous_variant,p.=,ENST00000370017,NM_001144937.1;FNDC7,upstream_gene_variant,,ENST00000445274,;	T	ENST00000370017	Transcript	synonymous_variant	493/3332	216/2202	72/733	T	acG/acT	rs754855969	1		1	FNDC7	HGNC	HGNC:26668	protein_coding	YES	CCDS44185.1	ENSP00000359034	Q5VTL7		UPI000187497A	NM_001144937.1			3/13		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF204,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	5			1										PASS		rs754855969	.												T	2	4	80	108717910	108717910	G	T	1	0	0	0	0	0	0	0	1	5830	1103	39	1		1	FNDC7	1	108717910	Silent	SNP	G	C3N-01488_TP	1281164	108717910	140238512	21	25985											
FNDC7	0	.	GRCh38	chr1	108725929	108725929	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatctgagtgtggcttcActtattttattagtgttttt	6	23	7	5	0	3	1	1	1	2	0	3	1	3	1	0	1	0	2	0	1	4	8	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1036A>T	p.Thr346Ser	p.T346S	ENST00000370017	6/13	298	260	38	460	460	0	strelka-varscan-mutect	FNDC7,missense_variant,p.Thr346Ser,ENST00000370017,NM_001144937.1;FNDC7,missense_variant,p.Thr122Ser,ENST00000445274,;	T	ENST00000370017	Transcript	missense_variant	1313/3332	1036/2202	346/733	T/S	Act/Tct		1		1	FNDC7	HGNC	HGNC:26668	protein_coding	YES	CCDS44185.1	ENSP00000359034	Q5VTL7		UPI000187497A	NM_001144937.1	tolerated(0.06)		6/13		PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF204,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	108725929	108725929	A	T	1	0	0	0	0	1	0	0	0	5830	159	6	4		4	FNDC7	1	108725929	Missense_Mutation	SNP	A	C3N-01488_TP	8019	108725929	140230493	22	25986											
MAGI3	0	.	GRCh38	chr1	113585428	113585428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctccagcagaacccagcCcttttcagccagatccagtt	10	8	7	16	0	1	2	1	0	0	2	3	2	3	2	6	0	5	2	6	0	1	3	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.595C>A	p.Pro199Thr	p.P199T	ENST00000307546	4/21	269	242	27	482	479	3	strelka-varscan-mutect	MAGI3,missense_variant,p.Pro199Thr,ENST00000369615,NM_152900.2;MAGI3,missense_variant,p.Pro199Thr,ENST00000307546,NM_001142782.1;MAGI3,missense_variant,p.Pro199Thr,ENST00000369617,;MAGI3,missense_variant,p.Pro199Thr,ENST00000369611,;MAGI3,downstream_gene_variant,,ENST00000486456,;	A	ENST00000307546	Transcript	missense_variant	670/6430	595/4446	199/1481	P/T	Cct/Act		1		1	MAGI3	HGNC	HGNC:29647	protein_coding	YES	CCDS44196.1	ENSP00000304604	Q5TCQ9		UPI00004589AE	NM_001142782.1	deleterious(0.05)		4/21		hmmpanther:PTHR10316:SF10,hmmpanther:PTHR10316,SMART_domains:SM00072																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	80	113585428	113585428	C	A	1	0	0	0	0	1	0	0	0	9110	623	22	2		2	MAGI3	1	113585428	Missense_Mutation	SNP	C	C3N-01488_TP	4859499	113585428	135370994	23	25987											
CASQ2	0	.	GRCh38	chr1	115744862	115744862	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttggcttctttcttggcAtccaccatcacaaagcctat	9	13	6	13	0	3	0	1	0	2	0	4	0	4	0	3	2	2	3	3	2	2	5	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.285T>A	p.Asp95Glu	p.D95E	ENST00000261448	2/11	432	396	36	632	632	0	strelka-varscan-mutect	CASQ2,missense_variant,p.Asp95Glu,ENST00000261448,NM_001232.3;	T	ENST00000261448	Transcript	missense_variant	525/2674	285/1200	95/399	D/E	gaT/gaA		1		-1	CASQ2	HGNC	HGNC:1513	protein_coding	YES	CCDS884.1	ENSP00000261448	O14958		UPI0000126F16	NM_001232.3	deleterious(0)		2/11		Gene3D:3.40.30.10,Pfam_domain:PF01216,Prints_domain:PR00312,hmmpanther:PTHR10033,hmmpanther:PTHR10033:SF15,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	115744862	115744862	A	T	1	0	0	0	0	1	0	0	0	2380	214	8	4		4	CASQ2	1	115744862	Missense_Mutation	SNP	A	C3N-01488_TP	2159434	115744862	133211560	24	25988											
SPAG17	0	.	GRCh38	chr1	117996628	117996628	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaccatagatttgctgaTgattcttttcaaggtgcata	10	16	8	7	0	3	3	2	2	1	1	3	3	3	3	1	1	2	3	1	1	3	7	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.4892A>T	p.His1631Leu	p.H1631L	ENST00000336338	33/49	126	100	26	210	210	0	strelka-varscan-mutect	SPAG17,missense_variant,p.His1631Leu,ENST00000336338,NM_206996.2;SPAG17,missense_variant,p.His111Leu,ENST00000437255,;	A	ENST00000336338	Transcript	missense_variant	4958/6924	4892/6672	1631/2223	H/L	cAt/cTt		1		-1	SPAG17	HGNC	HGNC:26620	protein_coding	YES	CCDS899.1	ENSP00000337804	Q6Q759		UPI00001601FD	NM_206996.2	tolerated(0.42)		33/49		hmmpanther:PTHR21963																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	117996628	117996628	T	A	1	0	0	0	0	1	0	0	0	15310	1464	51	4		4	SPAG17	1	117996628	Missense_Mutation	SNP	T	C3N-01488_TP	2251766	117996628	130959794	25	25989											
HSD3B2	0	.	GRCh38	chr1	119422043	119422043	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggtgataccttgtacaCttgtgcgttaagacccacat	12	12	8	9	1	0	2	0	1	0	1	0	2	0	2	2	1	3	2	2	1	4	5	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.542C>G	p.Thr181Ser	p.T181S	ENST00000543831	4/4	437	366	71	727	727	0	strelka-varscan-mutect	HSD3B2,missense_variant,p.Thr181Ser,ENST00000543831,NM_001166120.1;HSD3B2,missense_variant,p.Thr181Ser,ENST00000369416,NM_000198.3;HSD3B2,missense_variant,p.Thr181Ser,ENST00000433745,;HSD3B2,downstream_gene_variant,,ENST00000471656,;HSD3B2,downstream_gene_variant,,ENST00000443865,;HSD3B2,downstream_gene_variant,,ENST00000448448,;	G	ENST00000543831	Transcript	missense_variant	791/1783	542/1119	181/372	T/S	aCt/aGt		1		1	HSD3B2	HGNC	HGNC:5218	protein_coding	YES	CCDS902.1	ENSP00000445122	P26439	A0A024R0F9	UPI0000001C6C	NM_001166120.1	deleterious(0.01)		4/4		Gene3D:3.40.50.720,Pfam_domain:PF01073,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF444,Superfamily_domains:SSF51735																	MODERATE	1	SNV	3			1										PASS		.	.												G	3	3	80	119422043	119422043	C	G	1	0	0	0	0	1	0	0	0	7285	565	20	4		4	HSD3B2	1	119422043	Missense_Mutation	SNP	C	C3N-01488_TP	1425415	119422043	129534379	26	25990											
LCE2D	0	.	GRCh38	chr1	152664355	152664355	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccgtctcttccaccggCgccggcaccagagccccgat	5	5	11	20	5	1	1	0	0	1	1	3	2	2	1	8	3	1	1	8	3	0	1			C3N-01488_TP	C3N-01488_NB	C	C																c.250C>G	p.Arg84Gly	p.R84G	ENST00000368784	2/2	223	137	86	297	297	0	strelka-varscan-mutect	LCE2D,missense_variant,p.Arg84Gly,ENST00000368784,NM_178430.3;	G	ENST00000368784	Transcript	missense_variant	305/609	250/333	84/110	R/G	Cgc/Ggc	COSM5185099	1		1	LCE2D	HGNC	HGNC:16518	protein_coding	YES	CCDS1018.1	ENSP00000357773	Q5TA82		UPI00001927D4	NM_178430.3	tolerated_low_confidence(0.33)		2/2		Pfam_domain:PF14672,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF51,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	80	152664355	152664355	C	G	1	0	0	0	0	1	0	0	0	8573	768	27	4		4	LCE2D	1	152664355	Missense_Mutation	SNP	C	C3N-01488_TP	33242312	152664355	96292067	27	25991											
SNAPIN	0	.	GRCh38	chr1	153659165	153659165	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtagagctccgggaacaAattgacaacctagccacagg	14	5	11	11	1	0	2	0	1	0	1	1	3	1	3	3	3	4	2	3	3	5	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.171A>T	p.Gln57His	p.Q57H	ENST00000368685	2/4	231	148	83	251	251	0	strelka-varscan-mutect	SNAPIN,missense_variant,p.Gln57His,ENST00000368685,NM_012437.5;ILF2,downstream_gene_variant,,ENST00000615950,NM_001267809.1;ILF2,downstream_gene_variant,,ENST00000361891,NM_004515.3;SNAPIN,non_coding_transcript_exon_variant,,ENST00000478558,;SNAPIN,non_coding_transcript_exon_variant,,ENST00000474959,;SNAPIN,intron_variant,,ENST00000462880,;ILF2,downstream_gene_variant,,ENST00000480213,;	T	ENST00000368685	Transcript	missense_variant	261/1030	171/411	57/136	Q/H	caA/caT		1		1	SNAPIN	HGNC	HGNC:17145	protein_coding	YES	CCDS1049.1	ENSP00000357674	O95295		UPI000003E7DC	NM_012437.5	tolerated(0.44)		2/4		hmmpanther:PTHR31305,PIRSF_domain:PIRSF037631,Pfam_domain:PF14712																	MODERATE	1	SNV	1			1										PASS		rs934510807	.												T	3	4	80	153659165	153659165	A	T	1	0	0	0	0	1	0	0	0	15160	11	1	4		4	SNAPIN	1	153659165	Missense_Mutation	SNP	A	C3N-01488_TP	994810	153659165	95297257	28	25992											
CLK2	0	.	GRCh38	chr1	155269634	155269634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atagtaggcatctccccgatCccggctataatcgttgcgtc	8	11	9	13	4	1	0	0	0	1	0	5	1	2	0	3	2	1	4	3	2	4	5	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.253G>T	p.Asp85Tyr	p.D85Y	ENST00000368361	3/13	693	642	51	630	629	1	strelka-varscan-mutect	CLK2,missense_variant,p.Asp85Tyr,ENST00000368361,NM_001294338.1,NM_001294339.1;CLK2,missense_variant,p.Asp84Tyr,ENST00000355560,;CLK2,missense_variant,p.Asp85Tyr,ENST00000361168,NM_003993.3;CLK2,non_coding_transcript_exon_variant,,ENST00000476983,;CLK2,non_coding_transcript_exon_variant,,ENST00000471047,;CLK2,non_coding_transcript_exon_variant,,ENST00000484699,;CLK2,upstream_gene_variant,,ENST00000497188,;	A	ENST00000368361	Transcript	missense_variant	569/2166	253/1500	85/499	D/Y	Gat/Tat		1		-1	CLK2	HGNC	HGNC:2069	protein_coding	YES	CCDS72939.1	ENSP00000357345	P49760	A8K7I0	UPI0000127AD2	NM_001294338.1,NM_001294339.1	deleterious(0.02)		3/13		hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF26																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	155269634	155269634	C	A	1	0	0	0	0	1	0	0	0	3306	855	30	2		2	CLK2	1	155269634	Missense_Mutation	SNP	C	C3N-01488_TP	1610469	155269634	93686788	29	25993											
SEMA4A	0	.	GRCh38	chr1	156154718	156154718	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagggtcagatactatgcagGtaagtgtccgacagcaggaa	13	7	13	8	1	1	1	1	0	0	1	2	3	2	2	1	3	3	3	1	3	4	3	rs770789701		C3N-01488_TP	C3N-01488_NB	G	G																c.139+1G>T		p.X47_splice	ENST00000368285		288	266	22	299	299	0	varscan-mutect	SEMA4A,splice_donor_variant,,ENST00000368285,NM_001193300.1,NM_022367.3;SEMA4A,splice_donor_variant,,ENST00000368282,;SEMA4A,splice_donor_variant,,ENST00000355014,NM_001193301.1;SEMA4A,splice_donor_variant,,ENST00000368286,;SEMA4A,splice_donor_variant,,ENST00000435124,;SEMA4A,splice_donor_variant,,ENST00000438830,;SEMA4A,splice_donor_variant,,ENST00000633494,;SEMA4A,intron_variant,,ENST00000368284,NM_001193302.1;SEMA4A,intron_variant,,ENST00000414683,;SEMA4A,non_coding_transcript_exon_variant,,ENST00000485575,;SEMA4A,upstream_gene_variant,,ENST00000487358,;SEMA4A,upstream_gene_variant,,ENST00000470306,;	T	ENST00000368285	Transcript	splice_donor_variant	-/3300	139/2286	47/761			rs770789701	1		1	SEMA4A	HGNC	HGNC:10729	protein_coding	YES	CCDS1132.1	ENSP00000357268	Q9H3S1		UPI000007217A	NM_001193300.1,NM_022367.3				2/14																		HIGH	1	SNV	1			1										PASS		rs770789701	.												T	5	4	80	156154718	156154718	G	T	1	0	0	0	0	0	0	1	0	14307	1275	44	2		2	SEMA4A	1	156154718	Splice_Site	SNP	G	C3N-01488_TP	885084	156154718	92801704	30	25994											
INSRR	0	.	GRCh38	chr1	156849462	156849462	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtagagagtgtagttccTgggggaggccaggggacctt	8	8	17	8	1	0	1	0	0	0	1	1	4	1	3	3	5	0	3	3	5	2	4	rs766973790		C3N-01488_TP	C3N-01488_NB	T	T																c.1230-2A>C		p.X410_splice	ENST00000368195		160	151	9	145	144	1	varscan-mutect	INSRR,splice_acceptor_variant,,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;	G	ENST00000368195	Transcript	splice_acceptor_variant	-/5101	1230/3894	410/1297			rs766973790	1		-1	INSRR	HGNC	HGNC:6093	protein_coding	YES	CCDS1160.1	ENSP00000357178	P14616		UPI000012D8BD	NM_014215.2				5/21																		HIGH	1	SNV	2			1										PASS		rs766973790	.												G	5	3	80	156849462	156849462	T	G	1	0	0	0	0	0	0	1	0	7676	1594	55	5		5	INSRR	1	156849462	Splice_Site	SNP	T	C3N-01488_TP	694744	156849462	92106960	31	25995											
CD1A	0	.	GRCh38	chr1	158257439	158257439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagcatcacagttccgtggGcttcatcatcttggcggtga	8	11	12	10	2	4	2	3	1	1	1	5	2	5	2	1	3	1	3	1	3	0	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.902G>T	p.Gly301Val	p.G301V	ENST00000289429	5/6	358	278	80	361	360	1	strelka-varscan-mutect	CD1A,missense_variant,p.Gly301Val,ENST00000289429,NM_001763.2;	T	ENST00000289429	Transcript	missense_variant	1435/2096	902/984	301/327	G/V	gGc/gTc		1		1	CD1A	HGNC	HGNC:1634	protein_coding	YES	CCDS1174.1	ENSP00000289429	P06126		UPI0000161A54	NM_001763.2	tolerated(0.07)		5/6		Gene3D:2.60.40.10,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF160,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	158257439	158257439	G	T	1	0	0	0	0	1	0	0	0	2677	1203	42	2		2	CD1A	1	158257439	Missense_Mutation	SNP	G	C3N-01488_TP	1407977	158257439	90698983	32	25996											
SPTA1	0	.	GRCh38	chr1	158649937	158649937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgcaaagaaccccagcggGaattcaattcctaaaagagg	15	7	9	10	1	2	2	1	0	1	2	3	3	3	3	3	2	3	1	3	2	6	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.3488C>A	p.Ser1163Tyr	p.S1163Y	ENST00000368147	25/52	355	329	26	373	372	1	strelka-varscan-mutect	SPTA1,missense_variant,p.Ser1163Tyr,ENST00000368147,NM_003126.2;	T	ENST00000368147	Transcript	missense_variant	3669/7999	3488/7260	1163/2419	S/Y	tCc/tAc		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0.02)		25/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	158649937	158649937	G	T	1	0	0	0	0	1	0	0	0	15472	1174	41	2		2	SPTA1	1	158649937	Missense_Mutation	SNP	G	C3N-01488_TP	392498	158649937	90306485	33	25997											
SPTA1	0	.	GRCh38	chr1	158678462	158678462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctctggagagccaaacCacgaaggcgctcccaggcag	10	5	12	14	2	1	1	0	0	1	1	3	3	2	1	3	3	2	2	3	3	2	0	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.751G>A	p.Gly251Ser	p.G251S	ENST00000368147	6/52	580	546	34	565	565	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Gly251Ser,ENST00000368147,NM_003126.2;SPTA1,missense_variant,p.Gly69Ser,ENST00000467387,;	T	ENST00000368147	Transcript	missense_variant	932/7999	751/7260	251/2419	G/S	Ggt/Agt		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	tolerated(0.9)		6/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	158678462	158678462	C	T	1	0	0	0	0	1	0	0	0	15472	594	21	3		3	SPTA1	1	158678462	Missense_Mutation	SNP	C	C3N-01488_TP	28525	158678462	90277960	34	25998											
OR6K6	0	.	GRCh38	chr1	158755364	158755364	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttgtggcttcctcctTgtgcttcctgagattgcatg	3	18	10	10	0	0	1	0	1	0	1	3	2	3	1	3	1	3	4	3	1	0	6	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.549T>A	p.=	p.L183L	ENST00000368144	1/1	229	206	23	300	300	0	strelka-varscan-mutect	OR6K6,synonymous_variant,p.=,ENST00000368144,NM_001005184.1;	A	ENST00000368144	Transcript	synonymous_variant	645/1172	549/1032	183/343	L	ctT/ctA		1		1	OR6K6	HGNC	HGNC:15033	protein_coding	YES	CCDS30904.1	ENSP00000357126	Q8NGW6		UPI000015F229	NM_001005184.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF132,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs1229290149	.												A	2	1	80	158755364	158755364	T	A	1	0	0	0	0	0	0	0	1	11273	1799	63	4		4	OR6K6	1	158755364	Silent	SNP	T	C3N-01488_TP	76902	158755364	90201058	35	25999											
CADM3	0	.	GRCh38	chr1	159192032	159192032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaggactcatccctgcaatGgtctaaccctgctcagcaga	10	8	9	14	1	3	1	2	0	1	1	4	3	4	2	2	2	4	3	2	2	2	1			C3N-01488_TP	C3N-01488_NB	G	G																c.287G>T	p.Trp96Leu	p.W96L	ENST00000368124	3/10	379	229	150	344	342	2	strelka-varscan-mutect	CADM3,missense_variant,p.Trp62Leu,ENST00000368125,NM_001127173.1;CADM3,missense_variant,p.Trp96Leu,ENST00000368124,NM_021189.3;CADM3,missense_variant,p.Trp62Leu,ENST00000416746,;CADM3-AS1,downstream_gene_variant,,ENST00000415675,;	T	ENST00000368124	Transcript	missense_variant	444/2546	287/1299	96/432	W/L	tGg/tTg	COSM1499015	1		1	CADM3	HGNC	HGNC:17601	protein_coding	YES	CCDS1182.1	ENSP00000357106	Q8N126		UPI000006E8A2	NM_021189.3	tolerated(0.72)		3/10		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF57,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	80	159192032	159192032	G	T	1	0	0	0	0	1	0	0	0	2258	1357	47	2		2	CADM3	1	159192032	Missense_Mutation	SNP	G	C3N-01488_TP	436668	159192032	89764390	36	26000											
IGSF8	0	.	GRCh38	chr1	160095083	160095083	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttggtactgacaatgccCagtgcagtatctggggcctc	7	11	11	12	0	1	1	0	1	1	0	3	1	2	1	3	3	3	3	3	3	3	3	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.228G>T	p.=	p.L76L	ENST00000368086	2/7	366	305	61	292	292	0	strelka-varscan-mutect	IGSF8,synonymous_variant,p.=,ENST00000368086,NM_001320247.1;IGSF8,synonymous_variant,p.=,ENST00000314485,NM_052868.4;IGSF8,synonymous_variant,p.=,ENST00000614243,NM_001206665.2;IGSF8,synonymous_variant,p.=,ENST00000448417,;KCNJ9,downstream_gene_variant,,ENST00000368088,NM_004983.2;IGSF8,non_coding_transcript_exon_variant,,ENST00000460351,;	A	ENST00000368086	Transcript	synonymous_variant	445/2366	228/1842	76/613	L	ctG/ctT		1		-1	IGSF8	HGNC	HGNC:17813	protein_coding	YES	CCDS1195.1	ENSP00000357065	Q969P0		UPI0000073CBA	NM_001320247.1			2/7		PROSITE_profiles:PS50835,hmmpanther:PTHR12207:SF22,hmmpanther:PTHR12207,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	80	160095083	160095083	C	A	1	0	0	0	0	0	0	0	1	7512	581	21	2		2	IGSF8	1	160095083	Silent	SNP	C	C3N-01488_TP	903051	160095083	88861339	37	26001											
SLAMF6	0	.	GRCh38	chr1	160486752	160486752	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctggaaaaagtgggtttActctgtgggaaaaagaggaa	14	8	14	5	0	1	1	0	0	1	1	1	4	1	4	1	4	1	1	1	4	6	2	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.954T>A	p.Ser318Arg	p.S318R	ENST00000368057	8/8	306	211	95	399	399	0	strelka-varscan-mutect	SLAMF6,missense_variant,p.Ser317Arg,ENST00000368059,NM_052931.4,NM_001184715.1;SLAMF6,missense_variant,p.Ser318Arg,ENST00000368057,NM_001184714.1;SLAMF6,missense_variant,p.Ser207Arg,ENST00000368055,NM_001184716.1;	T	ENST00000368057	Transcript	missense_variant,splice_region_variant	1015/2712	954/999	318/332	S/R	agT/agA		1		-1	SLAMF6	HGNC	HGNC:21392	protein_coding	YES	CCDS53394.1	ENSP00000357036	Q96DU3		UPI0000051E34	NM_001184714.1	tolerated(0.35)		8/8		hmmpanther:PTHR12080:SF16,hmmpanther:PTHR12080																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	160486752	160486752	A	T	1	0	0	0	0	1	0	0	0	14633	405	14	4		4	SLAMF6	1	160486752	Missense_Mutation	SNP	A	C3N-01488_TP	391669	160486752	88469670	38	26002											
PBX1	0	.	GRCh38	chr1	164821586	164821586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacaggaggatacagtgatgGactcgcagccagtcagatgt	12	7	14	8	1	1	2	1	1	0	1	2	6	1	5	1	3	2	1	1	3	1	1	rs201029742		C3N-01488_TP	C3N-01488_NB	G	G																c.1160G>T	p.Gly387Val	p.G387V	ENST00000420696	8/9	383	236	147	396	396	0	strelka-varscan-mutect	PBX1,missense_variant,p.Gly387Val,ENST00000420696,NM_002585.3;PBX1,missense_variant,p.Gly299Val,ENST00000540236,;PBX1,missense_variant,p.Gly282Val,ENST00000560641,;PBX1,missense_variant,p.Gly296Val,ENST00000559240,;PBX1,missense_variant,p.Gly387Val,ENST00000627490,NM_001204963.1;PBX1,3_prime_UTR_variant,,ENST00000612123,;PBX1,3_prime_UTR_variant,,ENST00000367897,NM_001204961.1;PBX1,non_coding_transcript_exon_variant,,ENST00000468104,;PBX1,non_coding_transcript_exon_variant,,ENST00000560469,;PBX1,non_coding_transcript_exon_variant,,ENST00000496120,;PBX1,intron_variant,,ENST00000558796,;PBX1,non_coding_transcript_exon_variant,,ENST00000465089,;	T	ENST00000420696	Transcript	missense_variant	1348/6636	1160/1293	387/430	G/V	gGa/gTa	rs201029742,COSM1335884,COSM4711409,COSM4711410,COSM5140886	1		1	PBX1	HGNC	HGNC:8632	protein_coding	YES	CCDS1246.1	ENSP00000405890	P40424	A0A024R919	UPI00000213E1	NM_002585.3	deleterious(0.03)		8/9		hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF89											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs201029742	.												T	3	4	80	164821586	164821586	G	T	1	0	0	0	0	1	0	0	0	11579	1174	41	2		2	PBX1	1	164821586	Missense_Mutation	SNP	G	C3N-01488_TP	4334834	164821586	84134836	39	26003											
ILDR2	0	.	GRCh38	chr1	166936636	166936636	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagcatgggcagcggaCatagcagcagcagctgtgag	10	5	17	9	1	0	1	0	1	0	0	0	2	0	2	0	3	6	7	0	3	1	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.658G>T	p.Val220Phe	p.V220F	ENST00000271417	5/10	389	369	20	382	382	0	strelka-varscan	ILDR2,missense_variant,p.Val220Phe,ENST00000271417,NM_199351.2;ILDR2,missense_variant,p.Val201Phe,ENST00000529071,;ILDR2,missense_variant,p.Val220Phe,ENST00000528703,;ILDR2,missense_variant,p.Val220Phe,ENST00000469934,;ILDR2,intron_variant,,ENST00000526687,;ILDR2,intron_variant,,ENST00000525740,;ILDR2,intron_variant,,ENST00000529387,;	A	ENST00000271417	Transcript	missense_variant	714/13140	658/1920	220/639	V/F	Gtc/Ttc		1		-1	ILDR2	HGNC	HGNC:18131	protein_coding	YES	CCDS1256.1	ENSP00000271417	Q71H61		UPI00002317DF	NM_199351.2	deleterious(0)		5/10		Pfam_domain:PF05624,hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	166936636	166936636	C	A	1	0	0	0	0	1	0	0	0	7613	478	17	2		2	ILDR2	1	166936636	Missense_Mutation	SNP	C	C3N-01488_TP	2115050	166936636	82019786	40	26004											
TIPRL	0	.	GRCh38	chr1	168198947	168198947	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacctacatgttacgagaatAtacgtcacgagaaagcaaaa	18	7	8	8	3	1	2	1	0	0	2	1	5	1	2	1	0	4	2	1	0	8	4	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.641A>G	p.Tyr214Cys	p.Y214C	ENST00000367833	6/7	197	172	25	203	203	0	strelka-varscan	TIPRL,missense_variant,p.Tyr214Cys,ENST00000367833,NM_152902.4;	G	ENST00000367833	Transcript	missense_variant	786/3032	641/819	214/272	Y/C	tAt/tGt		1		1	TIPRL	HGNC	HGNC:30231	protein_coding	YES	CCDS1270.1	ENSP00000356807	O75663		UPI0000071605	NM_152902.4	deleterious(0)		6/7		hmmpanther:PTHR21021:SF16,hmmpanther:PTHR21021,Pfam_domain:PF04176																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	168198947	168198947	A	G	1	0	0	0	0	1	0	0	0	16367	449	16	5		5	TIPRL	1	168198947	Missense_Mutation	SNP	A	C3N-01488_TP	1262311	168198947	80757475	41	26005											
F5	0	.	GRCh38	chr1	169549973	169549973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttccacttataagtatagGtttcccctggttgaactgct	8	16	8	9	0	0	1	0	1	0	0	2	1	2	1	3	2	2	5	3	2	5	7			C3N-01488_TP	C3N-01488_NB	G	G																c.1439C>A	p.Thr480Asn	p.T480N	ENST00000367797	10/25	484	268	216	527	527	0	strelka-varscan	F5,missense_variant,p.Thr480Asn,ENST00000367796,;F5,missense_variant,p.Thr480Asn,ENST00000367797,NM_000130.4;	T	ENST00000367797	Transcript	missense_variant	1641/7024	1439/6675	480/2224	T/N	aCc/aAc	COSM4763492	1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4	deleterious(0.01)		10/25		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,PIRSF_domain:PIRSF000354,Gene3D:2.60.40.420,Superfamily_domains:SSF49503											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	80	169549973	169549973	G	T	1	0	0	0	0	1	0	0	0	5216	1261	44	2		2	F5	1	169549973	Missense_Mutation	SNP	G	C3N-01488_TP	1351026	169549973	79406449	42	26006											
PRRC2C	0	.	GRCh38	chr1	171532613	171532613	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccagaggaaattagggaaAgggagcgagaaaaagaacgg	18	3	15	5	2	0	3	0	0	0	3	1	7	1	6	1	4	2	0	1	4	6	1	rs139508183		C3N-01488_TP	C3N-01488_NB	A	A																c.1519A>T	p.Arg507Trp	p.R507W	ENST00000338920	12/34	333	306	27	412	412	0	strelka-varscan	PRRC2C,missense_variant,p.Arg509Trp,ENST00000367742,;PRRC2C,missense_variant,p.Arg507Trp,ENST00000338920,NM_015172.3;PRRC2C,missense_variant,p.Arg507Trp,ENST00000426496,;PRRC2C,missense_variant,p.Arg264Trp,ENST00000392078,;PRRC2C,non_coding_transcript_exon_variant,,ENST00000476522,;	T	ENST00000338920	Transcript	missense_variant	1756/10355	1519/8454	507/2817	R/W	Agg/Tgg	rs139508183	1		1	PRRC2C	HGNC	HGNC:24903	protein_coding	YES	CCDS1296.2	ENSP00000343629	Q9Y520		UPI0000E265EC	NM_015172.3	tolerated_low_confidence(0.06)		12/34		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14038,hmmpanther:PTHR14038:SF6																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	171532613	171532613	A	T	1	0	0	0	0	1	0	0	0	12750	63	3	4		4	PRRC2C	1	171532613	Missense_Mutation	SNP	A	C3N-01488_TP	1982640	171532613	77423809	43	26007											
PAPPA2	0	.	GRCh38	chr1	176594784	176594784	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagtctagaccagtctggtCccctgaacagccccttcatg	8	9	9	15	0	3	2	1	1	2	1	4	2	4	2	5	1	2	1	5	1	2	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1180C>A	p.Pro394Thr	p.P394T	ENST00000367662	3/23	347	325	22	380	379	1	strelka-varscan-mutect	PAPPA2,missense_variant,p.Pro394Thr,ENST00000367662,NM_020318.2;PAPPA2,missense_variant,p.Pro394Thr,ENST00000367661,NM_021936.2;	A	ENST00000367662	Transcript	missense_variant	2344/9691	1180/5376	394/1791	P/T	Ccc/Acc		1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2	tolerated(0.1)		3/23		Gene3D:2.60.120.200,Pfam_domain:PF13385,SMART_domains:SM00560,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs1255241135	.												A	3	1	80	176594784	176594784	C	A	1	0	0	0	0	1	0	0	0	11513	855	30	2		2	PAPPA2	1	176594784	Missense_Mutation	SNP	C	C3N-01488_TP	5062171	176594784	72361638	44	26008											
PAPPA2	0	.	GRCh38	chr1	176771050	176771050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttggagtgtgatgctcccCctattattctgaatgccaac	9	13	9	10	0	1	2	0	2	1	0	2	3	2	3	3	1	3	2	3	1	4	4	rs866010097		C3N-01488_TP	C3N-01488_NB	C	C																c.4585C>A	p.Pro1529Thr	p.P1529T	ENST00000367662	17/23	556	513	43	618	618	0	strelka-varscan-mutect	PAPPA2,missense_variant,p.Pro1529Thr,ENST00000367662,NM_020318.2;	A	ENST00000367662	Transcript	missense_variant	5749/9691	4585/5376	1529/1791	P/T	Cct/Act	rs866010097	1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2	deleterious(0)		17/23		Low_complexity_(Seg):seg,PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF1,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		rs866010097	.												A	3	1	80	176771050	176771050	C	A	1	0	0	0	0	1	0	0	0	11513	623	22	2		2	PAPPA2	1	176771050	Missense_Mutation	SNP	C	C3N-01488_TP	176266	176771050	72185372	45	26009											
PAPPA2	0	.	GRCh38	chr1	176789867	176789867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggagcaaggcagctgcattCctgtggtgtgtgagccaccc	7	8	15	11	0	0	1	0	1	0	0	1	2	1	2	3	3	4	4	3	3	1	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.4774C>T	p.Pro1592Ser	p.P1592S	ENST00000367662	18/23	437	268	169	562	561	1	strelka-varscan-mutect	PAPPA2,missense_variant,p.Pro1592Ser,ENST00000367662,NM_020318.2;PAPPA2,upstream_gene_variant,,ENST00000479836,;	T	ENST00000367662	Transcript	missense_variant	5938/9691	4774/5376	1592/1791	P/S	Cct/Tct		1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2	deleterious(0.03)		18/23		Low_complexity_(Seg):seg,PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF1,hmmpanther:PTHR19325,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	176789867	176789867	C	T	1	0	0	0	0	1	0	0	0	11513	855	30	3		3	PAPPA2	1	176789867	Missense_Mutation	SNP	C	C3N-01488_TP	18817	176789867	72166555	46	26010											
BRINP2	0	.	GRCh38	chr1	177229925	177229925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagggcttcggccggcggtgGccccatggacagccctgctg	4	6	17	14	3	0	0	0	0	0	0	1	2	0	1	4	6	2	2	4	6	0	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.49G>T	p.Ala17Ser	p.A17S	ENST00000361539	2/8	100	87	13	109	109	0	strelka-varscan-mutect	BRINP2,missense_variant,p.Ala17Ser,ENST00000361539,NM_021165.3;	T	ENST00000361539	Transcript	missense_variant	361/3558	49/2352	17/783	A/S	Gcc/Tcc		1		1	BRINP2	HGNC	HGNC:13746	protein_coding	YES	CCDS1320.1	ENSP00000354481	Q9C0B6		UPI000006DF55	NM_021165.3	tolerated_low_confidence(0.43)		2/8		Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	177229925	177229925	G	T	1	0	0	0	0	1	0	0	0	1686	1203	42	2		2	BRINP2	1	177229925	Missense_Mutation	SNP	G	C3N-01488_TP	440058	177229925	71726497	47	26011											
CACNA1E	0	.	GRCh38	chr1	181798563	181798563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagccaacatgcctcccCacagcgctacatctccgagc	10	5	8	18	2	1	1	0	0	1	1	3	2	2	1	5	0	6	2	5	0	2	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.6671C>T	p.Pro2224Leu	p.P2224L	ENST00000367573	48/48	301	277	24	277	277	0	strelka-varscan-mutect	CACNA1E,missense_variant,p.Pro2162Leu,ENST00000621791,NM_001205294.1;CACNA1E,missense_variant,p.Pro2224Leu,ENST00000621551,;CACNA1E,missense_variant,p.Pro2181Leu,ENST00000367567,;CACNA1E,missense_variant,p.Pro2162Leu,ENST00000358338,;CACNA1E,missense_variant,p.Pro2181Leu,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Pro2224Leu,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Pro2223Leu,ENST00000357570,;CACNA1E,missense_variant,p.Pro2205Leu,ENST00000360108,;	T	ENST00000367573	Transcript	missense_variant	6671/7067	6671/6942	2224/2313	P/L	cCa/cTa		1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1	deleterious(0.02)		48/48		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	181798563	181798563	C	T	1	0	0	0	0	1	0	0	0	2230	594	21	3		3	CACNA1E	1	181798563	Missense_Mutation	SNP	C	C3N-01488_TP	4568638	181798563	67157859	48	26012											
NPL	0	.	GRCh38	chr1	182806494	182806494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttcttacctgtctacaagGccagtcccctcacagttacc	8	11	6	16	0	3	0	1	0	2	0	4	0	4	0	5	1	3	2	5	1	4	4	rs868407257		C3N-01488_TP	C3N-01488_NB	G	G																c.136G>T	p.Ala46Ser	p.A46S	ENST00000367554	3/11	218	198	20	210	209	1	strelka-varscan-mutect	NPL,missense_variant,p.Ala46Ser,ENST00000367554,NM_001200050.1;NPL,intron_variant,,ENST00000258317,;NPL,intron_variant,,ENST00000614468,NM_001200052.1;NPL,intron_variant,,ENST00000367553,NM_001200056.1,NM_030769.2;NPL,intron_variant,,ENST00000367555,NM_001200051.1;NPL,intron_variant,,ENST00000367552,;NPL,non_coding_transcript_exon_variant,,ENST00000471010,;NPL,intron_variant,,ENST00000463899,;NPL,intron_variant,,ENST00000488424,;NPL,intron_variant,,ENST00000460690,;NPL,intron_variant,,ENST00000479721,;	T	ENST00000367554	Transcript	missense_variant	781/3027	136/906	46/301	A/S	Gcc/Tcc	rs868407257	1		1	NPL	HGNC	HGNC:16781	protein_coding		CCDS55667.1	ENSP00000356525	Q9BXD5		UPI000043F347	NM_001200050.1	deleterious_low_confidence(0.02)		3/11		SMART_domains:SM01130																	MODERATE		SNV	1			1										PASS		rs868407257	.												T	3	4	80	182806494	182806494	G	T	1	0	0	0	0	1	0	0	0	10641	1203	42	2		2	NPL	1	182806494	Missense_Mutation	SNP	G	C3N-01488_TP	1007931	182806494	66149928	49	26013											
BRINP3	0	.	GRCh38	chr1	190099090	190099090	+	Missense_Mutation	SNP	C	C	A																															ctaggaggccgttctcattgCagtagagaaaagactggatg																										C3N-01488_TP	C3N-01488_NB	C	C																c.1229G>T	p.Cys410Phe	p.C410F	ENST00000367462	8/8	156	118	38	191	190	1	strelka-varscan-mutect	BRINP3,missense_variant,p.Cys410Phe,ENST00000367462,NM_199051.1;	A	ENST00000367462	Transcript	missense_variant	1714/3142	1229/2301	410/766	C/F	tGc/tTc	COSM4764200	1		-1	BRINP3	HGNC	HGNC:22393	protein_coding	YES	CCDS1373.1	ENSP00000356432	Q76B58		UPI00001C1D9A	NM_199051.1	deleterious(0)		8/8		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2,Superfamily_domains:SSF57184											1						MODERATE	1	SNV	1		1	1										PASS		rs1191081025	.												A	3	1	80	190099090	190099090	C	A	1	0	0	0	0	1	0	0	0	1687	710	25	2		2	BRINP3	1	190099090	Missense_Mutation	SNP	C	C3N-01488_TP	7292596	190099090	58857332	50	26014	555	2									
BRINP3	0	.	GRCh38	chr1	190099091	190099091	+	Missense_Mutation	SNP	A	A	G																															taggaggccgttctcattgcAgtagagaaaagactggatgc																								novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1228T>C	p.Cys410Arg	p.C410R	ENST00000367462	8/8	153	116	37	191	190	1	strelka-varscan-mutect	BRINP3,missense_variant,p.Cys410Arg,ENST00000367462,NM_199051.1;	G	ENST00000367462	Transcript	missense_variant	1713/3142	1228/2301	410/766	C/R	Tgc/Cgc		1		-1	BRINP3	HGNC	HGNC:22393	protein_coding	YES	CCDS1373.1	ENSP00000356432	Q76B58		UPI00001C1D9A	NM_199051.1	deleterious(0)		8/8		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	190099091	190099091	A	G	1	0	0	0	0	1	0	0	0	1687	188	7	5		5	BRINP3	1	190099091	Missense_Mutation	SNP	A	C3N-01488_TP	1	190099091	58857331	51	26015	555	2									
CRB1	0	.	GRCh38	chr1	197347420	197347420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgttggtcaaaaccttGtcacaataatgctacatgtg	11	15	7	8	0	3	0	2	0	1	0	3	0	3	0	1	1	3	2	1	1	5	5	rs779835125		C3N-01488_TP	C3N-01488_NB	G	G																c.929G>T	p.Cys310Phe	p.C310F	ENST00000367400	4/12	427	403	24	429	429	0	strelka-varscan-mutect	CRB1,missense_variant,p.Cys241Phe,ENST00000535699,NM_001257965.1;CRB1,missense_variant,p.Cys310Phe,ENST00000367400,NM_201253.2;CRB1,missense_variant,p.Cys310Phe,ENST00000538660,NM_001257966.1;CRB1,intron_variant,,ENST00000367399,NM_001193640.1;CRB1,missense_variant,p.Cys310Phe,ENST00000484075,;CRB1,non_coding_transcript_exon_variant,,ENST00000475659,;	T	ENST00000367400	Transcript	missense_variant	1064/4932	929/4221	310/1406	C/F	tGt/tTt	rs779835125,CM106993	1		1	CRB1	HGNC	HGNC:2343	protein_coding	YES	CCDS1390.1	ENSP00000356370	P82279		UPI0000073345	NM_201253.2	deleterious(0)		4/12		Gene3D:2gy5A03,Pfam_domain:PF00008,PROSITE_profiles:PS50026,hmmpanther:PTHR24049,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1		0,1	1										PASS		rs779835125	.												T	3	4	80	197347420	197347420	G	T	1	0	0	0	0	1	0	0	0	3648	1377	48	2		2	CRB1	1	197347420	Missense_Mutation	SNP	G	C3N-01488_TP	7248329	197347420	51609002	52	26016											
IGFN1	0	.	GRCh38	chr1	201206323	201206323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccttgatgggggacaaagGgacagctgactcagcctggg	9	7	15	10	0	1	2	1	2	0	0	2	4	2	4	2	4	2	1	2	4	1	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1430G>T	p.Gly477Val	p.G477V	ENST00000335211	12/24	187	117	70	211	211	0	strelka-varscan	IGFN1,missense_variant,p.Gly477Val,ENST00000335211,NM_001164586.1;IGFN1,intron_variant,,ENST00000295591,;IGFN1,non_coding_transcript_exon_variant,,ENST00000444705,;IGFN1,intron_variant,,ENST00000437879,;	T	ENST00000335211	Transcript	missense_variant	1560/11810	1430/11127	477/3708	G/V	gGg/gTg		1		1	IGFN1	HGNC	HGNC:24607	protein_coding	YES	CCDS53455.1	ENSP00000334714	Q86VF2		UPI0001B300F4	NM_001164586.1	deleterious(0.03)		12/24																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	201206323	201206323	G	T	1	0	0	0	0	1	0	0	0	7497	1232	43	2		2	IGFN1	1	201206323	Missense_Mutation	SNP	G	C3N-01488_TP	3858903	201206323	47750099	53	26017											
MDM4	0	.	GRCh38	chr1	204530687	204530687	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttattccatgcaggtcAtgcactatttaggtcagtac	10	16	7	8	0	2	0	2	0	0	0	3	0	3	0	1	2	3	3	1	2	5	8	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.157A>G	p.Met53Val	p.M53V	ENST00000367182	4/11	200	170	30	239	239	0	strelka-varscan	MDM4,missense_variant,p.Met53Val,ENST00000367182,NM_002393.4;MDM4,missense_variant,p.Met53Val,ENST00000391947,NM_001278516.1;MDM4,missense_variant,p.Met53Val,ENST00000454264,NM_001204171.1;MDM4,missense_variant,p.Met53Val,ENST00000616250,NM_001278518.1;MDM4,missense_variant,p.Met53Val,ENST00000621032,;MDM4,missense_variant,p.Met53Val,ENST00000367180,;MDM4,missense_variant,p.Met53Val,ENST00000507825,;MDM4,intron_variant,,ENST00000614459,NM_001278517.1;MDM4,intron_variant,,ENST00000612738,NM_001278519.1;MDM4,intron_variant,,ENST00000367183,NM_001204172.1;MDM4,non_coding_transcript_exon_variant,,ENST00000463049,;MDM4,non_coding_transcript_exon_variant,,ENST00000470797,;MDM4,non_coding_transcript_exon_variant,,ENST00000470908,;MDM4,intron_variant,,ENST00000471783,;RP11-430C7.2,upstream_gene_variant,,ENST00000432698,;	G	ENST00000367182	Transcript	missense_variant	319/10073	157/1473	53/490	M/V	Atg/Gtg		1		1	MDM4	HGNC	HGNC:6974	protein_coding	YES	CCDS1447.1	ENSP00000356150	O15151	A0A024R990	UPI000007467F	NM_002393.4	deleterious(0.01)		4/11		hmmpanther:PTHR13844,hmmpanther:PTHR13844:SF20,PIRSF_domain:PIRSF006748,Pfam_domain:PF02201,Gene3D:1.10.245.10,PIRSF_domain:PIRSF500699,Superfamily_domains:SSF47592																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	204530687	204530687	A	G	1	0	0	0	0	1	0	0	0	9352	231	8	5		5	MDM4	1	204530687	Missense_Mutation	SNP	A	C3N-01488_TP	3324364	204530687	44425735	54	26018											
CNTN2	0	.	GRCh38	chr1	205064747	205064747	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactggaatcctatctgtgCgaggtgagggctgccatgtg	7	10	15	9	1	1	1	0	1	1	0	2	3	2	2	2	3	2	2	2	3	2	1	rs114903768		C3N-01488_TP	C3N-01488_NB	C	C																c.1516C>G	p.Arg506Gly	p.R506G	ENST00000331830	12/23	139	120	19	124	124	0	strelka-varscan	CNTN2,missense_variant,p.Arg506Gly,ENST00000331830,NM_005076.3;CNTN2,upstream_gene_variant,,ENST00000636641,;CNTN2,non_coding_transcript_exon_variant,,ENST00000481872,;CNTN2,non_coding_transcript_exon_variant,,ENST00000636809,;CNTN2,downstream_gene_variant,,ENST00000530117,;CNTN2,upstream_gene_variant,,ENST00000638050,;CNTN2,downstream_gene_variant,,ENST00000527340,;CNTN2,upstream_gene_variant,,ENST00000530594,;	G	ENST00000331830	Transcript	missense_variant	1873/8214	1516/3123	506/1040	R/G	Cga/Gga	rs114903768	1		1	CNTN2	HGNC	HGNC:2172	protein_coding	YES	CCDS1449.1	ENSP00000330633	Q02246	A0A024R9B4	UPI00001266A5	NM_005076.3	tolerated(0.11)		12/23		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	205064747	205064747	C	G	1	0	0	0	0	1	0	0	0	3422	782	27	4		4	CNTN2	1	205064747	Missense_Mutation	SNP	C	C3N-01488_TP	534060	205064747	43891675	55	26019											
C1orf186	0	.	GRCh38	chr1	206101796	206101796	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtcgtcttttctgacccTggagaactaaaaaatgactc	13	11	7	10	1	2	3	0	2	2	1	4	4	2	3	1	1	1	0	1	1	5	3	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.363T>A	p.=	p.P121P	ENST00000331555	6/6	299	190	109	338	338	0	strelka-varscan	C1orf186,synonymous_variant,p.=,ENST00000331555,NM_001007544.3;C1orf186,synonymous_variant,p.=,ENST00000582070,;C1orf186,synonymous_variant,p.=,ENST00000603488,;C1orf186,synonymous_variant,p.=,ENST00000603378,;C1orf186,downstream_gene_variant,,ENST00000604112,;	A	ENST00000331555	Transcript	synonymous_variant	1002/1665	363/519	121/172	P	ccT/ccA		1		1	C1orf186	HGNC	HGNC:25341	protein_coding	YES	CCDS73014.1	ENSP00000356093	Q6ZWK4		UPI0000039E60	NM_001007544.3			6/6		Pfam_domain:PF15763,hmmpanther:PTHR38491,hmmpanther:PTHR38491:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	80	206101796	206101796	T	A	1	0	0	0	0	0	0	0	1	1976	1567	55	4		4	C1orf186	1	206101796	Silent	SNP	T	C3N-01488_TP	1037049	206101796	42854626	56	26020											
TRAF3IP3	0	.	GRCh38	chr1	209775617	209775617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgatccctggccctggcaGagcagaagtgtgaagagtgg	10	6	16	9	1	0	4	0	1	0	3	1	5	1	4	2	3	2	2	2	3	2	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.934G>A	p.Glu312Lys	p.E312K	ENST00000367024	11/17	144	99	45	174	174	0	strelka-varscan	TRAF3IP3,missense_variant,p.Glu312Lys,ENST00000367024,NM_001320143.1;TRAF3IP3,missense_variant,p.Glu312Lys,ENST00000367025,NM_025228.3;TRAF3IP3,missense_variant,p.Glu292Lys,ENST00000367026,NM_001320144.1;TRAF3IP3,missense_variant,p.Glu292Lys,ENST00000400959,;TRAF3IP3,missense_variant,p.Glu48Lys,ENST00000367023,NM_001287754.1;TRAF3IP3,missense_variant,p.Glu48Lys,ENST00000477431,;TRAF3IP3,missense_variant,p.Glu48Lys,ENST00000487271,;C1orf74,downstream_gene_variant,,ENST00000294811,NM_152485.2;TRAF3IP3,upstream_gene_variant,,ENST00000488702,;TRAF3IP3,missense_variant,p.Glu312Lys,ENST00000478359,;TRAF3IP3,non_coding_transcript_exon_variant,,ENST00000476050,;TRAF3IP3,non_coding_transcript_exon_variant,,ENST00000474496,;TRAF3IP3,upstream_gene_variant,,ENST00000460314,;TRAF3IP3,upstream_gene_variant,,ENST00000471368,;	A	ENST00000367024	Transcript	missense_variant	1450/2331	934/1656	312/551	E/K	Gag/Aag		1		1	TRAF3IP3	HGNC	HGNC:30766	protein_coding	YES	CCDS1490.2	ENSP00000355991	Q9Y228		UPI00005190E1	NM_001320143.1	tolerated(0.15)		11/17		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15715:SF21,hmmpanther:PTHR15715,Superfamily_domains:SSF57997																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	80	209775617	209775617	G	A	1	0	0	0	0	1	0	0	0	16925	943	33	3		3	TRAF3IP3	1	209775617	Missense_Mutation	SNP	G	C3N-01488_TP	3673821	209775617	39180805	57	26021											
TRAF3IP3	0	.	GRCh38	chr1	209782076	209782076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggcaatgtgggcgatggctCccagtgctgatggtggtgat	7	10	17	7	1	0	2	0	2	0	0	1	3	1	2	1	5	1	3	1	5	1	0	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1584C>T	p.=	p.L528L	ENST00000367024	17/17	280	262	18	342	342	0	strelka-varscan	TRAF3IP3,missense_variant,p.Pro140Ser,ENST00000477431,;TRAF3IP3,synonymous_variant,p.=,ENST00000367024,NM_001320143.1;TRAF3IP3,synonymous_variant,p.=,ENST00000367025,NM_025228.3;TRAF3IP3,synonymous_variant,p.=,ENST00000367026,NM_001320144.1;C1orf74,3_prime_UTR_variant,,ENST00000294811,NM_152485.2;IRF6,downstream_gene_variant,,ENST00000367021,NM_006147.3;IRF6,downstream_gene_variant,,ENST00000542854,NM_001206696.1;TRAF3IP3,downstream_gene_variant,,ENST00000400959,;TRAF3IP3,downstream_gene_variant,,ENST00000367023,NM_001287754.1;TRAF3IP3,downstream_gene_variant,,ENST00000487271,;TRAF3IP3,non_coding_transcript_exon_variant,,ENST00000467830,;TRAF3IP3,downstream_gene_variant,,ENST00000488702,;TRAF3IP3,3_prime_UTR_variant,,ENST00000471368,;TRAF3IP3,non_coding_transcript_exon_variant,,ENST00000460314,;TRAF3IP3,downstream_gene_variant,,ENST00000476050,;TRAF3IP3,downstream_gene_variant,,ENST00000478359,;TRAF3IP3,downstream_gene_variant,,ENST00000474496,;	T	ENST00000367024	Transcript	synonymous_variant	2100/2331	1584/1656	528/551	L	ctC/ctT		1		1	TRAF3IP3	HGNC	HGNC:30766	protein_coding	YES	CCDS1490.2	ENSP00000355991	Q9Y228		UPI00005190E1	NM_001320143.1			17/17		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR15715:SF21,hmmpanther:PTHR15715																	LOW		SNV	2			1										PASS		.	.												T	2	4	80	209782076	209782076	C	T	1	0	0	0	0	0	0	0	1	16925	842	30	3		3	TRAF3IP3	1	209782076	Silent	SNP	C	C3N-01488_TP	6459	209782076	39174346	58	26022											
C1orf74	0	.	GRCh38	chr1	209783195	209783195	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagtccctctgcagccccTgcaaatgtgtgatgatctca	10	11	8	12	0	2	2	1	2	2	0	4	2	3	2	3	0	3	2	3	0	2	1	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.440A>T	p.Gln147Leu	p.Q147L	ENST00000294811	2/2	425	238	187	438	438	0	strelka-varscan	C1orf74,missense_variant,p.Gln147Leu,ENST00000294811,NM_152485.2;IRF6,downstream_gene_variant,,ENST00000367021,NM_006147.3;IRF6,downstream_gene_variant,,ENST00000542854,NM_001206696.1;TRAF3IP3,downstream_gene_variant,,ENST00000367024,NM_001320143.1;TRAF3IP3,downstream_gene_variant,,ENST00000367025,NM_025228.3;TRAF3IP3,downstream_gene_variant,,ENST00000367026,NM_001320144.1;TRAF3IP3,downstream_gene_variant,,ENST00000400959,;TRAF3IP3,downstream_gene_variant,,ENST00000367023,NM_001287754.1;TRAF3IP3,downstream_gene_variant,,ENST00000477431,;TRAF3IP3,downstream_gene_variant,,ENST00000467830,;TRAF3IP3,downstream_gene_variant,,ENST00000488702,;TRAF3IP3,downstream_gene_variant,,ENST00000476050,;TRAF3IP3,downstream_gene_variant,,ENST00000460314,;TRAF3IP3,downstream_gene_variant,,ENST00000478359,;TRAF3IP3,downstream_gene_variant,,ENST00000471368,;	A	ENST00000294811	Transcript	missense_variant	697/4684	440/810	147/269	Q/L	cAg/cTg		1		-1	C1orf74	HGNC	HGNC:26319	protein_coding	YES	CCDS1491.1	ENSP00000294811	Q96LT6	A0A0A8K8E6	UPI0000073C4E	NM_152485.2	deleterious(0.03)		2/2		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14953,hmmpanther:PTHR31366																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	209783195	209783195	T	A	1	0	0	0	0	1	0	0	0	1998	1580	55	4		4	C1orf74	1	209783195	Missense_Mutation	SNP	T	C3N-01488_TP	1119	209783195	39173227	59	26023											
NEK2	0	.	GRCh38	chr1	211669333	211669333	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaggtcgatggtaatcCtggggaaaaaatactcagta	16	8	11	6	1	1	1	1	0	0	1	3	3	2	2	1	4	1	2	1	4	7	3	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.766-1G>C		p.X256_splice	ENST00000366999		189	170	19	245	245	0	strelka-varscan	NEK2,splice_acceptor_variant,,ENST00000366999,NM_002497.3;NEK2,splice_acceptor_variant,,ENST00000366998,NM_001204183.1;NEK2,splice_acceptor_variant,,ENST00000540251,NM_001204182.1;NEK2,splice_acceptor_variant,,ENST00000462283,;NEK2,non_coding_transcript_exon_variant,,ENST00000489633,;	G	ENST00000366999	Transcript	splice_acceptor_variant	-/2131	766/1338	256/445				1		-1	NEK2	HGNC	HGNC:7745	protein_coding	YES	CCDS1500.1	ENSP00000355966	P51955		UPI000012FF27	NM_002497.3				5/7																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	80	211669333	211669333	C	G	1	0	0	0	0	0	0	1	0	10352	695	24	4		4	NEK2	1	211669333	Splice_Site	SNP	C	C3N-01488_TP	1886138	211669333	37287089	60	26024											
USH2A	0	.	GRCh38	chr1	215782145	215782145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagaagctcagtgatgttCcccgaaaacgttcaattcca	13	9	8	11	2	2	2	2	1	0	1	4	4	4	2	3	0	2	3	3	0	4	3			C3N-01488_TP	C3N-01488_NB	C	C																c.10637G>T	p.Gly3546Val	p.G3546V	ENST00000307340	54/72	378	355	23	536	535	1	strelka-varscan	USH2A,missense_variant,p.Gly3546Val,ENST00000307340,NM_206933.2;	A	ENST00000307340	Transcript	missense_variant	11024/18883	10637/15609	3546/5202	G/V	gGa/gTa	COSM3864471,COSM3864472	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		54/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	80	215782145	215782145	C	A	1	0	0	0	0	1	0	0	0	17570	855	30	2		2	USH2A	1	215782145	Missense_Mutation	SNP	C	C3N-01488_TP	4112812	215782145	33174277	61	26025											
USH2A	0	.	GRCh38	chr1	216048581	216048581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgtgagctctcagtacagCcagccaaagtgcaagcagtt	12	8	10	11	0	1	1	1	1	1	0	2	1	1	1	2	0	6	5	2	0	3	2	rs771891583		C3N-01488_TP	C3N-01488_NB	C	C																c.6116G>C	p.Gly2039Ala	p.G2039A	ENST00000307340	31/72	507	480	27	545	545	0	strelka-varscan	USH2A,missense_variant,p.Gly2039Ala,ENST00000307340,NM_206933.2;	G	ENST00000307340	Transcript	missense_variant	6503/18883	6116/15609	2039/5202	G/A	gGc/gCc	rs771891583	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		31/72		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	216048581	216048581	C	G	1	0	0	0	0	1	0	0	0	17570	739	26	4		4	USH2A	1	216048581	Missense_Mutation	SNP	C	C3N-01488_TP	266436	216048581	32907841	62	26026											
GPATCH2	0	.	GRCh38	chr1	217491714	217491714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagaacaatttttcttgtGtcctctttcagctcgattat	9	17	5	10	1	3	1	1	0	2	1	5	2	4	1	1	0	2	1	1	0	3	5	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1243C>T	p.His415Tyr	p.H415Y	ENST00000366935	8/10	273	255	18	274	274	0	strelka-varscan	GPATCH2,missense_variant,p.His415Tyr,ENST00000366935,NM_018040.3;GPATCH2,non_coding_transcript_exon_variant,,ENST00000489246,;GPATCH2,downstream_gene_variant,,ENST00000470014,;	A	ENST00000366935	Transcript	missense_variant	1354/5851	1243/1587	415/528	H/Y	Cac/Tac		1		-1	GPATCH2	HGNC	HGNC:25499	protein_coding	YES	CCDS1518.1	ENSP00000355902	Q9NW75		UPI000004A012	NM_018040.3	tolerated(0.11)		8/10		hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF4																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	80	217491714	217491714	G	A	1	0	0	0	0	1	0	0	0	6491	1377	48	3		3	GPATCH2	1	217491714	Missense_Mutation	SNP	G	C3N-01488_TP	1443133	217491714	31464708	63	26027											
RAB3GAP2	0	.	GRCh38	chr1	220210954	220210954	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgactcttatttatccttaCctcttttggcttgctagtgg	6	19	7	9	0	2	1	0	1	2	0	3	1	3	1	2	2	2	2	2	2	4	8	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.434+1G>T		p.X145_splice	ENST00000358951		518	460	58	622	619	3	strelka-varscan	RAB3GAP2,splice_donor_variant,,ENST00000358951,NM_012414.3;RAB3GAP2,splice_donor_variant,,ENST00000484658,;RAB3GAP2,intron_variant,,ENST00000478976,;RAB3GAP2,splice_donor_variant,,ENST00000237724,;RAB3GAP2,splice_donor_variant,,ENST00000474178,;RP11-568G11.4,downstream_gene_variant,,ENST00000604232,;	A	ENST00000358951	Transcript	splice_donor_variant	-/7257	434/4182	145/1393				1		-1	RAB3GAP2	HGNC	HGNC:17168	protein_coding	YES	CCDS31028.1	ENSP00000351832	Q9H2M9		UPI0000072269	NM_012414.3				5/34																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	80	220210954	220210954	C	A	1	0	0	0	0	0	0	1	0	13095	521	18	2		2	RAB3GAP2	1	220210954	Splice_Site	SNP	C	C3N-01488_TP	2719240	220210954	28745468	64	26028											
RBM34	0	.	GRCh38	chr1	235160995	235160995	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatggtgttcgccgcgaaaTaagctactggcgacctgtcc	9	9	12	11	4	0	0	0	0	0	0	2	3	1	0	3	2	2	2	3	2	4	3	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.126A>G	p.=	p.L42L	ENST00000408888	2/11	281	208	73	266	265	1	strelka-varscan	RBM34,synonymous_variant,p.=,ENST00000408888,NM_015014.2;RBM34,synonymous_variant,p.=,ENST00000447801,;RBM34,synonymous_variant,p.=,ENST00000429912,;RBM34,non_coding_transcript_exon_variant,,ENST00000485019,;RBM34,synonymous_variant,p.=,ENST00000474086,;ARID4B,3_prime_UTR_variant,,ENST00000474953,;RBM34,non_coding_transcript_exon_variant,,ENST00000476261,;RBM34,non_coding_transcript_exon_variant,,ENST00000486751,;RBM34,non_coding_transcript_exon_variant,,ENST00000468751,;RBM34,upstream_gene_variant,,ENST00000475960,;	C	ENST00000408888	Transcript	synonymous_variant	357/2054	126/1293	42/430	L	ttA/ttG		1		-1	RBM34	HGNC	HGNC:28965	protein_coding	YES	CCDS41477.2	ENSP00000386226	P42696		UPI00001D7E4C	NM_015014.2			2/11																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	80	235160995	235160995	T	C	1	0	0	0	0	0	0	0	1	13297	1403	49	5		5	RBM34	1	235160995	Silent	SNP	T	C3N-01488_TP	14950041	235160995	13795427	65	26029											
HEATR1	0	.	GRCh38	chr1	236597962	236597962	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaatcaaagttcctttagcTaacggcactccagattgctg	11	12	8	10	1	1	1	1	0	0	1	3	1	3	1	2	1	3	5	2	1	4	6	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.519A>T	p.Leu173Phe	p.L173F	ENST00000366582	5/45	150	106	44	226	226	0	strelka-varscan	HEATR1,missense_variant,p.Leu173Phe,ENST00000366582,NM_018072.5;HEATR1,missense_variant,p.Leu173Phe,ENST00000366581,;HEATR1,downstream_gene_variant,,ENST00000366579,;HEATR1,non_coding_transcript_exon_variant,,ENST00000483073,;	A	ENST00000366582	Transcript	missense_variant	634/8447	519/6435	173/2144	L/F	ttA/ttT		1		-1	HEATR1	HGNC	HGNC:25517	protein_coding	YES	CCDS31066.1	ENSP00000355541	Q9H583		UPI000013D4D4	NM_018072.5	deleterious(0)		5/45		hmmpanther:PTHR13457,hmmpanther:PTHR13457:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	80	236597962	236597962	T	A	1	0	0	0	0	1	0	0	0	6910	1519	53	4		4	HEATR1	1	236597962	Missense_Mutation	SNP	T	C3N-01488_TP	1436967	236597962	12358460	66	26030											
ACTN2	0	.	GRCh38	chr1	236762602	236762602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgttctcttccgcactctacGgggagagcgatctgtgatgc	6	11	12	12	4	3	2	0	1	3	1	5	4	4	2	1	2	3	2	1	2	1	3	rs536297856		C3N-01488_TP	C3N-01488_NB	G	G																c.2668G>T	p.Gly890Trp	p.G890W	ENST00000542672	21/21	561	336	225	589	587	2	strelka-varscan	ACTN2,missense_variant,p.Gly682Trp,ENST00000546208,NM_001278344.1;ACTN2,missense_variant,p.Gly890Trp,ENST00000542672,NM_001278343.1;ACTN2,missense_variant,p.Gly890Trp,ENST00000366578,NM_001103.3;ACTN2,downstream_gene_variant,,ENST00000461367,;	T	ENST00000542672	Transcript	missense_variant	2888/4906	2668/2685	890/894	G/W	Ggg/Tgg	rs536297856,COSM5131258,COSM5131259,COSM5556126,COSM5556127	1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1	deleterious(0)		21/21		Gene3D:1.10.238.10,Pfam_domain:PF08726,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,SMART_domains:SM01184											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		.	.												T	3	4	80	236762602	236762602	G	T	1	0	0	0	0	1	0	0	0	249	1116	39	1		1	ACTN2	1	236762602	Missense_Mutation	SNP	G	C3N-01488_TP	164640	236762602	12193820	67	26031											
RYR2	0	.	GRCh38	chr1	237783742	237783742	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaatcttccaacaacgtGgagatgattctcaaattttt	12	14	8	7	1	2	2	1	1	2	1	4	4	3	3	1	2	2	0	1	2	4	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.12030G>A	p.=	p.V4010V	ENST00000366574	90/105	189	160	29	230	230	0	strelka-varscan	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	A	ENST00000366574	Transcript	synonymous_variant	12347/16562	12030/14904	4010/4967	V	gtG/gtA		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			90/105		Gene3D:1.10.238.10,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Superfamily_domains:SSF47473																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	80	237783742	237783742	G	A	1	0	0	0	0	0	0	0	1	14029	1335	47	3		3	RYR2	1	237783742	Silent	SNP	G	C3N-01488_TP	1021140	237783742	11172680	68	26032											
FH	0	.	GRCh38	chr1	241504217	241504217	+	Missense_Mutation	SNP	T	T	A																															tgagcagccagagcttcaaaTttattcggagcagtgacaaa																								novel		C3N-01488_TP	C3N-01488_NB	T	T																c.933A>T	p.Lys311Asn	p.K311N	ENST00000366560	7/10	376	301	75	530	530	0	strelka-varscan	FH,missense_variant,p.Lys311Asn,ENST00000366560,NM_000143.3;	A	ENST00000366560	Transcript	missense_variant	972/1797	933/1533	311/510	K/N	aaA/aaT		1		-1	FH	HGNC	HGNC:3700	protein_coding	YES	CCDS1617.1	ENSP00000355518	P07954	A0A0S2Z4C3	UPI000012AD6A	NM_000143.3	deleterious(0)		7/10		HAMAP:MF_00743,hmmpanther:PTHR11444:SF1,hmmpanther:PTHR11444,TIGRFAM_domain:TIGR00979,Gene3D:1.20.200.10,Pfam_domain:PF00206,Superfamily_domains:SSF48557																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	241504217	241504217	T	A	1	0	0	0	0	1	0	0	0	5739	1490	52	4		4	FH	1	241504217	Missense_Mutation	SNP	T	C3N-01488_TP	3720475	241504217	7452205	69	26033	556	2									
FH	0	.	GRCh38	chr1	241504220	241504220	+	Missense_Mutation	SNP	A	A	T																															gcagccagagcttcaaatttAttcggagcagtgacaaaagg																								rs549087719		C3N-01488_TP	C3N-01488_NB	A	A																c.930T>A	p.Asn310Lys	p.N310K	ENST00000366560	7/10	381	300	81	524	523	1	strelka-varscan	FH,missense_variant,p.Asn310Lys,ENST00000366560,NM_000143.3;	T	ENST00000366560	Transcript	missense_variant	969/1797	930/1533	310/510	N/K	aaT/aaA	rs549087719	1		-1	FH	HGNC	HGNC:3700	protein_coding	YES	CCDS1617.1	ENSP00000355518	P07954	A0A0S2Z4C3	UPI000012AD6A	NM_000143.3	deleterious(0)		7/10		HAMAP:MF_00743,hmmpanther:PTHR11444:SF1,hmmpanther:PTHR11444,TIGRFAM_domain:TIGR00979,Gene3D:1.20.200.10,Pfam_domain:PF00206,Superfamily_domains:SSF48557																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	241504220	241504220	A	T	1	0	0	0	0	1	0	0	0	5739	446	16	4		4	FH	1	241504220	Missense_Mutation	SNP	A	C3N-01488_TP	3	241504220	7452202	70	26034	556	2									
ADSS	0	.	GRCh38	chr1	244432583	244432583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atataataagccttttttccCagccttctagtcctagaaag	12	14	5	10	0	1	1	0	0	1	1	3	1	3	1	4	0	2	0	4	0	6	9	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.368G>T	p.Trp123Leu	p.W123L	ENST00000366535	4/13	174	154	20	256	255	1	strelka-varscan	ADSS,missense_variant,p.Trp123Leu,ENST00000366535,NM_001126.3;	A	ENST00000366535	Transcript	missense_variant	685/2780	368/1371	123/456	W/L	tGg/tTg		1		-1	ADSS	HGNC	HGNC:292	protein_coding	YES	CCDS1624.1	ENSP00000355493	P30520	A0A024R5Q7	UPI0000132AF5	NM_001126.3	tolerated(0.12)		4/13		HAMAP:MF_00011,HAMAP:MF_03127,hmmpanther:PTHR11846:SF1,hmmpanther:PTHR11846,Pfam_domain:PF00709,TIGRFAM_domain:TIGR00184,SMART_domains:SM00788,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	244432583	244432583	C	A	1	0	0	0	0	1	0	0	0	421	595	21	2		2	ADSS	1	244432583	Missense_Mutation	SNP	C	C3N-01488_TP	2928363	244432583	4523839	71	26035											
KIF26B	0	.	GRCh38	chr1	245687550	245687550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcccggtttggccaccCagagccccgtgcatcccaac	6	6	9	20	2	0	1	0	0	0	1	1	1	1	1	7	2	4	2	7	2	1	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.4567C>A	p.Gln1523Lys	p.Q1523K	ENST00000407071	12/15	449	265	184	460	460	0	strelka-varscan	KIF26B,missense_variant,p.Gln1142Lys,ENST00000366518,;KIF26B,missense_variant,p.Gln1523Lys,ENST00000407071,NM_018012.3;KIF26B,downstream_gene_variant,,ENST00000483253,;	A	ENST00000407071	Transcript	missense_variant	5007/7287	4567/6327	1523/2108	Q/K	Cag/Aag		1		1	KIF26B	HGNC	HGNC:25484	protein_coding	YES	CCDS44342.1	ENSP00000385545	Q2KJY2		UPI0000695D71	NM_018012.3	tolerated(0.74)		12/15																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	245687550	245687550	C	A	1	0	0	0	0	1	0	0	0	8160	595	21	2		2	KIF26B	1	245687550	Missense_Mutation	SNP	C	C3N-01488_TP	1254967	245687550	3268872	72	26036											
KIF26B	0	.	GRCh38	chr1	245688805	245688805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaagaaacgctccaatcCaggtaggcggctgggcgcag	10	4	14	13	4	0	1	0	0	0	1	2	2	2	1	3	4	1	4	3	4	4	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.5822C>A	p.Pro1941Gln	p.P1941Q	ENST00000407071	12/15	58	53	5	64	64	0	strelka-varscan	KIF26B,missense_variant,p.Pro1560Gln,ENST00000366518,;KIF26B,missense_variant,p.Pro1941Gln,ENST00000407071,NM_018012.3;KIF26B,downstream_gene_variant,,ENST00000483253,;	A	ENST00000407071	Transcript	missense_variant,splice_region_variant	6262/7287	5822/6327	1941/2108	P/Q	cCa/cAa		1		1	KIF26B	HGNC	HGNC:25484	protein_coding	YES	CCDS44342.1	ENSP00000385545	Q2KJY2		UPI0000695D71	NM_018012.3	tolerated(0.29)		12/15																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	245688805	245688805	C	A	1	0	0	0	0	1	0	0	0	8160	608	21	2		2	KIF26B	1	245688805	Missense_Mutation	SNP	C	C3N-01488_TP	1255	245688805	3267617	73	26037											
OR14A2	0	.	GRCh38	chr1	247723555	247723555	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggagccacagaaaggcatGgaaaatgtgccagctgtgta	13	7	13	8	0	0	1	0	0	0	1	0	3	0	3	2	3	3	3	2	3	4	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.489C>A	p.=	p.S163S	ENST00000366485	1/1	259	244	15	320	320	0	strelka-varscan	OR14A2,synonymous_variant,p.=,ENST00000366485,;RP11-634B7.5,intron_variant,,ENST00000426444,;RP11-634B7.4,intron_variant,,ENST00000449298,;RP11-634B7.5,intron_variant,,ENST00000419891,;	T	ENST00000366485	Transcript	synonymous_variant	489/945	489/945	163/314	S	tcC/tcA		1		-1	OR14A2	HGNC	HGNC:15024	protein_coding	YES		ENSP00000355441	Q96R54	A0A126GWG8	UPI000004A5E7				1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF346,Superfamily_domains:SSF81321																	LOW		SNV				1										PASS		.	.												T	2	4	80	247723555	247723555	G	T	1	0	0	0	0	0	0	0	1	11022	1335	47	2		2	OR14A2	1	247723555	Silent	SNP	G	C3N-01488_TP	2034750	247723555	1232867	74	26038											
OR14K1	0	.	GRCh38	chr1	247739045	247739045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgtgtccagttgatggCtctgtcctggctcaacagag	6	12	12	11	0	3	2	1	1	2	1	5	2	5	2	2	2	1	4	2	2	1	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.431C>A	p.Ala144Asp	p.A144D	ENST00000283225	1/1	261	231	30	291	291	0	strelka-varscan	OR14K1,missense_variant,p.Ala144Asp,ENST00000283225,;RP11-634B7.4,intron_variant,,ENST00000449298,;	A	ENST00000283225	Transcript	missense_variant	431/945	431/945	144/314	A/D	gCt/gAt		1		1	OR14K1	HGNC	HGNC:15025	protein_coding	YES		ENSP00000283225	Q8NGZ2		UPI0000041CBA		deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												A	3	1	80	247739045	247739045	C	A	1	0	0	0	0	1	0	0	0	11026	797	28	2		2	OR14K1	1	247739045	Missense_Mutation	SNP	C	C3N-01488_TP	15490	247739045	1217377	75	26039											
OR1C1	0	.	GRCh38	chr1	247758132	247758132	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcagcctgcaaaagagAtagtcttggtgccagtcaag	12	8	13	8	0	2	2	1	1	1	1	2	3	2	2	2	2	3	2	2	2	4	2	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.275T>A	p.Ile92Asn	p.I92N	ENST00000408896	1/1	253	231	22	293	292	1	strelka-varscan	OR1C1,missense_variant,p.Ile92Asn,ENST00000408896,NM_012353.2;	T	ENST00000408896	Transcript	missense_variant	275/945	275/945	92/314	I/N	aTc/aAc		1		-1	OR1C1	HGNC	HGNC:8182	protein_coding	YES	CCDS41481.1	ENSP00000386138	Q15619	A0A126GV94	UPI000004B1DC	NM_012353.2	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF388,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	80	247758132	247758132	A	T	1	0	0	0	0	1	0	0	0	11029	333	12	4		4	OR1C1	1	247758132	Missense_Mutation	SNP	A	C3N-01488_TP	19087	247758132	1198290	76	26040											
OR11L1	0	.	GRCh38	chr1	247841414	247841414	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtccaacctggaaatcatCagggaaggcagaaagcctgt	15	6	11	9	0	2	1	2	0	0	1	3	3	3	3	3	3	2	1	3	3	5	0	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.483G>C	p.=	p.L161L	ENST00000355784	1/1	412	376	36	427	427	0	strelka-varscan	OR11L1,synonymous_variant,p.=,ENST00000355784,NM_001001959.1;	G	ENST00000355784	Transcript	synonymous_variant	483/969	483/969	161/322	L	ctG/ctC		1		-1	OR11L1	HGNC	HGNC:14998	protein_coding	YES	CCDS31098.1	ENSP00000348033	Q8NGX0		UPI0000061EBC	NM_001001959.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF295,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												G	2	3	80	247841414	247841414	C	G	1	0	0	0	0	0	0	0	1	11007	813	29	4		4	OR11L1	1	247841414	Silent	SNP	C	C3N-01488_TP	83282	247841414	1115008	77	26041											
OR2W3	0	.	GRCh38	chr1	247896171	247896171	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgtcagcactgtggccatCgaaggcaccgtctttgtcct	6	11	11	13	3	2	0	1	0	1	0	4	1	3	0	3	2	2	2	3	2	1	1	rs376214113		C3N-01488_TP	C3N-01488_NB	C	C																c.585C>T	p.=	p.I195I	ENST00000360358	1/1	253	228	25	269	269	0	strelka-varscan	OR2W3,synonymous_variant,p.=,ENST00000360358,NM_001001957.2;	T	ENST00000360358	Transcript	synonymous_variant	585/945	585/945	195/314	I	atC/atT	rs376214113,COSM2232622	1		1	OR2W3	HGNC	HGNC:15021	protein_coding	YES	CCDS31099.1	ENSP00000353516	Q7Z3T1		UPI0000061EA8	NM_001001957.2			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF223,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											0,1						LOW	1	SNV			0,1	1										PASS		.	.												T	2	4	80	247896171	247896171	C	T	1	0	0	0	0	0	0	0	1	11111	874	31	1		1	OR2W3	1	247896171	Silent	SNP	C	C3N-01488_TP	54757	247896171	1060251	78	26042											
OR2M4	0	.	GRCh38	chr1	248239160	248239160	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctcatctgcaccactCtacccaagatgatcttcagc	10	11	5	15	0	6	2	3	1	3	1	6	2	6	2	2	0	4	2	2	0	2	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.232C>A	p.Leu78Ile	p.L78I	ENST00000306687	1/1	142	121	21	212	212	0	strelka-varscan	OR2M4,missense_variant,p.Leu78Ile,ENST00000306687,NM_017504.1;	A	ENST00000306687	Transcript	missense_variant	232/936	232/936	78/311	L/I	Cta/Ata		1		1	OR2M4	HGNC	HGNC:8270	protein_coding	YES	CCDS31108.1	ENSP00000306688	Q96R27	A0A126GV73	UPI000004B233	NM_017504.1	tolerated(0.07)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF91,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	80	248239160	248239160	C	A	1	0	0	0	0	1	0	0	0	11090	912	32	2		2	OR2M4	1	248239160	Missense_Mutation	SNP	C	C3N-01488_TP	342989	248239160	717262	79	26043											
OR14C36	0	.	GRCh38	chr1	248349688	248349688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcaagaaaatcatgaagaGaattttttattcagaaaatg	19	12	6	4	0	3	4	3	1	0	3	3	5	3	4	0	0	0	0	0	0	8	4	rs74467694		C3N-01488_TP	C3N-01488_NB	G	G																c.914G>A	p.Arg305Lys	p.R305K	ENST00000317861	1/1	102	96	6	137	137	0	strelka-varscan	OR14C36,missense_variant,p.Arg305Lys,ENST00000317861,NM_001001918.1;	A	ENST00000317861	Transcript	missense_variant	914/939	914/939	305/312	R/K	aGa/aAa	rs74467694	1		1	OR14C36	HGNC	HGNC:15026	protein_coding	YES	CCDS31112.1	ENSP00000324534	Q8NHC7		UPI0000041CB1	NM_001001918.1	tolerated(0.27)		1/1		hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF180,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	80	248349688	248349688	G	A	1	0	0	0	0	1	0	0	0	11023	942	33	3		3	OR14C36	1	248349688	Missense_Mutation	SNP	G	C3N-01488_TP	110528	248349688	606734	80	26044											
OR2T1	0	.	GRCh38	chr1	248406067	248406067	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctaacaattaattcaCatgttgttattttactgccc	10	16	5	10	0	1	0	1	0	0	0	1	0	1	0	2	0	4	3	2	0	5	7			C3N-01488_TP	C3N-01488_NB	C	C																c.73C>A	p.His25Asn	p.H25N	ENST00000366474	1/1	235	207	28	264	264	0	strelka-varscan	OR2T1,missense_variant,p.His25Asn,ENST00000366474,NM_030904.1;	A	ENST00000366474	Transcript	missense_variant	73/1110	73/1110	25/369	H/N	Cat/Aat	COSM4030760	1		1	OR2T1	HGNC	HGNC:8277	protein_coding	YES	CCDS31115.1	ENSP00000355430	O43869	A0A126GVY3	UPI00003B2872	NM_030904.1	tolerated_low_confidence(0.14)		1/1		Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	80	248406067	248406067	C	A	1	0	0	0	0	1	0	0	0	11094	478	17	2		2	OR2T1	1	248406067	Missense_Mutation	SNP	C	C3N-01488_TP	56379	248406067	550355	81	26045											
SNTG2	0	.	GRCh38	chr2	1247363	1247363	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtaaatgagaaactccaaGgagctgactcctctcaaacc	14	7	9	11	0	1	2	1	2	1	1	4	4	3	3	3	2	3	2	3	2	5	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.925G>T	p.Gly309Ter	p.G309*	ENST00000308624	12/17	272	234	38	323	323	0	strelka-varscan-mutect	SNTG2,stop_gained,p.Gly309Ter,ENST00000308624,NM_018968.3;SNTG2,stop_gained,p.Gly182Ter,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000489646,;SNTG2,downstream_gene_variant,,ENST00000494178,;	T	ENST00000308624	Transcript	stop_gained	1054/1888	925/1620	309/539	G/*	Gga/Tga		1		1	SNTG2	HGNC	HGNC:13741	protein_coding	YES	CCDS46220.1	ENSP00000311837	Q9NY99		UPI0000456D73	NM_018968.3			12/17		hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF3,Superfamily_domains:SSF50729																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	80	1247363	1247363	G	T	1	0	0	0	0	0	1	0	0	15195	1001	35	2		2	SNTG2	2	1247363	Nonsense_Mutation	SNP	G	C3N-01488_TP		1247363	240946166	82	26046											
TDRD15	0	.	GRCh38	chr2	21138420	21138420	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcttgcccccaaatcAagtaaaaatttggtttatgg	12	12	8	9	0	2	0	1	0	1	0	2	0	2	0	2	2	2	4	2	2	6	5	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.953A>C	p.Gln318Pro	p.Q318P	ENST00000405799	4/4	103	90	13	166	166	0	strelka-varscan	TDRD15,missense_variant,p.Gln318Pro,ENST00000405799,;TDRD15,missense_variant,p.Gln318Pro,ENST00000622654,;	C	ENST00000405799	Transcript	missense_variant	1283/6135	953/5805	318/1934	Q/P	cAa/cCa		1		1	TDRD15	HGNC	HGNC:45037	protein_coding	YES	CCDS77385.1	ENSP00000384376	B5MCY1		UPI000173A3F5		deleterious(0.03)		4/4		Gene3D:2.30.30.140,Pfam_domain:PF00567,PROSITE_profiles:PS50304,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7,SMART_domains:SM00333,Superfamily_domains:SSF63748																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	80	21138420	21138420	A	C	1	0	0	0	0	1	0	0	0	16141	130	5	5		5	TDRD15	2	21138420	Missense_Mutation	SNP	A	C3N-01488_TP	19891057	21138420	221055109	83	26047											
ABCG8	0	.	GRCh38	chr2	43877690	43877690	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcggtctcaggagataaagTaagcggggaaggcctcgggt	10	6	17	8	4	1	1	1	0	1	1	3	3	1	2	1	6	1	1	1	6	4	2	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.1884+2T>C		p.X628_splice	ENST00000272286		474	393	81	634	634	0	strelka-varscan	ABCG8,splice_donor_variant,,ENST00000272286,NM_022437.2;	C	ENST00000272286	Transcript	splice_donor_variant	-/2665	1884/2022	628/673				1		1	ABCG8	HGNC	HGNC:13887	protein_coding	YES	CCDS1815.1	ENSP00000272286	Q9H221		UPI000004C4CD	NM_022437.2				12/12																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	80	43877690	43877690	T	C	1	0	0	0	0	0	0	1	0	76	1652	57	5		5	ABCG8	2	43877690	Splice_Site	SNP	T	C3N-01488_TP	22739270	43877690	198315839	84	26048											
NRXN1	0	.	GRCh38	chr2	50053285	50053285	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctggctaatgggttCttttgtcgggggctttcctc	3	15	12	11	1	2	0	1	0	1	0	5	0	3	0	2	4	0	4	2	4	1	5			C3N-01488_TP	C3N-01488_NB	C	C																c.4234G>T	p.Glu1412Ter	p.E1412*	ENST00000404971	22/24	234	189	45	352	350	2	strelka-varscan	NRXN1,stop_gained,p.Glu1342Ter,ENST00000406316,NM_004801.4;NRXN1,stop_gained,p.Glu1364Ter,ENST00000625672,;NRXN1,stop_gained,p.Glu1412Ter,ENST00000404971,NM_001135659.1;NRXN1,stop_gained,p.Glu1372Ter,ENST00000401669,;NRXN1,stop_gained,p.Glu1360Ter,ENST00000405472,;NRXN1,stop_gained,p.Glu1364Ter,ENST00000630543,;NRXN1,stop_gained,p.Glu307Ter,ENST00000342183,NM_138735.2;NRXN1,stop_gained,p.Glu337Ter,ENST00000401710,;NRXN1,stop_gained,p.Glu337Ter,ENST00000628364,;NRXN1,stop_gained,p.Glu63Ter,ENST00000611589,;NRXN1,non_coding_transcript_exon_variant,,ENST00000637889,;NRXN1,non_coding_transcript_exon_variant,,ENST00000635264,;NRXN1,3_prime_UTR_variant,,ENST00000637906,;	A	ENST00000404971	Transcript	stop_gained	5574/7578	4234/4644	1412/1547	E/*	Gaa/Taa	COSM3582024,COSM3582025,COSM3582026,COSM3582027,COSM3582028	1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1			22/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565											1,1,1,1,1						HIGH	1	SNV	1		1,1,1,1,1	1										PASS		.	.												A	4	1	80	50053285	50053285	C	A	1	0	0	0	0	0	1	0	0	10724	922	32	2		2	NRXN1	2	50053285	Nonsense_Mutation	SNP	C	C3N-01488_TP	6175595	50053285	192140244	85	26049											
M1AP	0	.	GRCh38	chr2	74562222	74562222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctccacttgcctccaCattcttaaggctatcatcat	8	13	6	14	0	3	0	2	0	1	0	5	0	5	0	3	2	1	2	3	2	2	4	rs143680043		C3N-01488_TP	C3N-01488_NB	C	C																c.1276G>T	p.Val426Leu	p.V426L	ENST00000290536	8/11	61	50	11	116	116	0	strelka-varscan	M1AP,missense_variant,p.Val426Leu,ENST00000290536,NM_138804.4;M1AP,missense_variant,p.Val426Leu,ENST00000536235,NM_001321739.1,NM_001281296.1;M1AP,missense_variant,p.Val426Leu,ENST00000409585,;DOK1,downstream_gene_variant,,ENST00000233668,NM_001318866.1,NM_001381.3;DOK1,downstream_gene_variant,,ENST00000409429,NM_001197260.1;DOK1,downstream_gene_variant,,ENST00000340004,;M1AP,non_coding_transcript_exon_variant,,ENST00000464686,;M1AP,intron_variant,,ENST00000485997,;DOK1,downstream_gene_variant,,ENST00000464613,;	A	ENST00000290536	Transcript	missense_variant	1393/2543	1276/1593	426/530	V/L	Gtg/Ttg	rs143680043	1		-1	M1AP	HGNC	HGNC:25183	protein_coding	YES	CCDS33229.1	ENSP00000290536	Q8TC57		UPI0000072570	NM_138804.4	deleterious(0.01)		8/11		hmmpanther:PTHR28642,hmmpanther:PTHR28642:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	74562222	74562222	C	A	1	0	0	0	0	1	0	0	0	9053	492	17	2		2	M1AP	2	74562222	Missense_Mutation	SNP	C	C3N-01488_TP	24508937	74562222	167631307	86	26050											
REG1B	0	.	GRCh38	chr2	79087557	79087557	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatctcaccttggctcAgagacaggaacatcagggag	14	6	12	9	0	3	1	3	0	1	1	4	5	3	4	1	4	1	1	1	4	3	1	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.56T>A	p.Leu19Gln	p.L19Q	ENST00000305089	2/6	152	118	34	190	190	0	strelka-varscan	REG1B,missense_variant,p.Leu19Gln,ENST00000305089,NM_006507.3;REG1B,upstream_gene_variant,,ENST00000454188,;REG1B,non_coding_transcript_exon_variant,,ENST00000479258,;REG1B,non_coding_transcript_exon_variant,,ENST00000476554,;REG1B,non_coding_transcript_exon_variant,,ENST00000469052,;	T	ENST00000305089	Transcript	missense_variant	137/767	56/501	19/166	L/Q	cTg/cAg		1		-1	REG1B	HGNC	HGNC:9952	protein_coding	YES	CCDS1963.1	ENSP00000303206	P48304	Q6ICS1	UPI00000012AB	NM_006507.3	tolerated(0.44)		2/6		Low_complexity_(Seg):seg,hmmpanther:PTHR22801:SF55,hmmpanther:PTHR22801,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	79087557	79087557	A	T	1	0	0	0	0	1	0	0	0	13381	188	7	4		4	REG1B	2	79087557	Missense_Mutation	SNP	A	C3N-01488_TP	4525335	79087557	163105972	87	26051											
CTNNA2	0	.	GRCh38	chr2	79874300	79874300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgacgaagccaagggccaCacgggcatcggcgagctggc	10	3	15	13	4	0	1	0	1	0	0	1	3	0	1	2	4	2	2	2	4	2	0	rs756399817		C3N-01488_TP	C3N-01488_NB	C	C																c.810C>A	p.His270Gln	p.H270Q	ENST00000402739	5/18	215	179	36	299	299	0	strelka-varscan	CTNNA2,missense_variant,p.His270Gln,ENST00000466387,;CTNNA2,missense_variant,p.His270Gln,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.His270Gln,ENST00000402739,NM_001282597.2;CTNNA2,missense_variant,p.His270Gln,ENST00000629316,NM_001164883.1;	A	ENST00000402739	Transcript	missense_variant	815/3684	810/2862	270/953	H/Q	caC/caA	rs756399817	1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2	tolerated(0.36)		5/18		Pfam_domain:PF01044,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	79874300	79874300	C	A	1	0	0	0	0	1	0	0	0	3822	477	17	2		2	CTNNA2	2	79874300	Missense_Mutation	SNP	C	C3N-01488_TP	786743	79874300	162319229	88	26052											
LRRTM1	0	.	GRCh38	chr2	80303177	80303177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtcgttgtgctcgaggtGcagctcggtgagcttaaaca	9	10	13	9	3	0	1	0	1	0	0	3	2	0	1	0	2	5	5	0	2	3	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.643C>A	p.His215Asn	p.H215N	ENST00000295057	2/2	211	170	41	283	283	0	strelka-varscan	LRRTM1,missense_variant,p.His215Asn,ENST00000295057,;LRRTM1,missense_variant,p.His215Asn,ENST00000409148,NM_178839.4;LRRTM1,missense_variant,p.His215Asn,ENST00000416268,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.2;CTNNA2,intron_variant,,ENST00000629316,NM_001164883.1;CTNNA2,upstream_gene_variant,,ENST00000541047,NM_001282600.1;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000415098,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.His215Asn,ENST00000433224,;LRRTM1,missense_variant,p.His215Asn,ENST00000417012,;	T	ENST00000295057	Transcript	missense_variant	1300/2599	643/1569	215/522	H/N	Cac/Aac		1		-1	LRRTM1	HGNC	HGNC:19408	protein_coding	YES	CCDS1966.1	ENSP00000295057	Q86UE6		UPI000013E1FE		deleterious(0)		2/2		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	80303177	80303177	G	T	1	0	0	0	0	1	0	0	0	8945	1319	46	2		2	LRRTM1	2	80303177	Missense_Mutation	SNP	G	C3N-01488_TP	428877	80303177	161890352	89	26053											
LRRTM1	0	.	GRCh38	chr2	80303607	80303607	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagaggctgttgtagcgcagGgacaagcccagcaggccgga	10	4	17	10	2	0	1	0	0	0	1	0	4	0	3	2	4	3	5	2	4	2	2	rs149452279		C3N-01488_TP	C3N-01488_NB	G	G																c.213C>T	p.=	p.S71S	ENST00000295057	2/2	121	99	22	188	188	0	strelka-varscan	LRRTM1,synonymous_variant,p.=,ENST00000295057,;LRRTM1,synonymous_variant,p.=,ENST00000409148,NM_178839.4;LRRTM1,synonymous_variant,p.=,ENST00000416268,;LRRTM1,synonymous_variant,p.=,ENST00000452811,;LRRTM1,synonymous_variant,p.=,ENST00000415098,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.2;CTNNA2,intron_variant,,ENST00000629316,NM_001164883.1;CTNNA2,upstream_gene_variant,,ENST00000541047,NM_001282600.1;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,synonymous_variant,p.=,ENST00000433224,;LRRTM1,synonymous_variant,p.=,ENST00000417012,;	A	ENST00000295057	Transcript	synonymous_variant	870/2599	213/1569	71/522	S	tcC/tcT	rs149452279	1		-1	LRRTM1	HGNC	HGNC:19408	protein_coding	YES	CCDS1966.1	ENSP00000295057	Q86UE6		UPI000013E1FE				2/2		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	80	80303607	80303607	G	A	1	0	0	0	0	0	0	0	1	8945	1219	43	3		3	LRRTM1	2	80303607	Silent	SNP	G	C3N-01488_TP	430	80303607	161889922	90	26054											
RPIA	0	.	GRCh38	chr2	88736573	88736573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggggatcagtggcacaaggGaatccccatcgaggtcatcc	10	6	13	12	2	2	0	2	0	0	0	5	3	4	2	3	5	0	1	3	5	2	0			C3N-01488_TP	C3N-01488_NB	G	G																c.635G>T	p.Gly212Val	p.G212V	ENST00000283646	7/9	215	193	22	347	346	1	strelka-varscan	RPIA,missense_variant,p.Gly212Val,ENST00000283646,NM_144563.2;	T	ENST00000283646	Transcript	missense_variant	690/1848	635/936	212/311	G/V	gGa/gTa	COSM576275	1		1	RPIA	HGNC	HGNC:10297	protein_coding	YES	CCDS2004.2	ENSP00000283646	P49247		UPI0000037A98	NM_144563.2	deleterious(0)		7/9		Gene3D:3.40.50.1360,HAMAP:MF_00170,Pfam_domain:PF06026,hmmpanther:PTHR11934,hmmpanther:PTHR11934:SF0,Superfamily_domains:SSF100950,Superfamily_domains:SSF75445,TIGRFAM_domain:TIGR00021											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	80	88736573	88736573	G	T	1	0	0	0	0	1	0	0	0	13805	1174	41	2		2	RPIA	2	88736573	Missense_Mutation	SNP	G	C3N-01488_TP	8432966	88736573	153456956	91	26055											
ZNF2	0	.	GRCh38	chr2	95181432	95181432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggggagaagccctacGactgccgcgagtgtgggaaa	11	5	15	10	3	0	1	0	0	0	1	0	5	0	2	2	3	3	0	2	3	3	1	rs551623974		C3N-01488_TP	C3N-01488_NB	G	G																c.643G>T	p.Asp215Tyr	p.D215Y	ENST00000611147	5/5	162	133	29	195	195	0	strelka-varscan-mutect	ZNF2,missense_variant,p.Asp160Tyr,ENST00000617923,NM_001017396.2;ZNF2,missense_variant,p.Asp122Tyr,ENST00000611463,NM_001291604.1;ZNF2,missense_variant,p.Asp202Tyr,ENST00000614034,NM_021088.3;ZNF2,missense_variant,p.Asp164Tyr,ENST00000622059,NM_001282398.1;ZNF2,missense_variant,p.Asp215Tyr,ENST00000611147,NM_001291605.1;	T	ENST00000611147	Transcript	missense_variant	726/1465	643/1317	215/438	D/Y	Gac/Tac	rs551623974	1		1	ZNF2	HGNC	HGNC:12991	protein_coding	YES	CCDS77434.1	ENSP00000482030		A0A087WYR5	UPI0004438063	NM_001291605.1	deleterious(0.01)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF364,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		rs551623974	.												T	3	4	80	95181432	95181432	G	T	1	0	0	0	0	1	0	0	0	18337	1058	37	1		1	ZNF2	2	95181432	Missense_Mutation	SNP	G	C3N-01488_TP	6444859	95181432	147012097	92	26056											
ANKRD36	0	.	GRCh38	chr2	97164403	97164403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaaacccattcagcatacgGtgaaagacagagatcacatt	16	8	7	10	1	3	3	3	1	0	2	3	4	3	3	1	1	3	1	1	1	3	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1465G>A	p.Val489Met	p.V489M	ENST00000420699	20/76	281	250	31	444	444	0	varscan-mutect	ANKRD36,missense_variant,p.Val489Met,ENST00000420699,NM_001164315.1;ANKRD36,missense_variant,p.Val489Met,ENST00000461153,;ANKRD36,intron_variant,,ENST00000620383,;	A	ENST00000420699	Transcript	missense_variant	1709/6269	1465/5826	489/1941	V/M	Gtg/Atg		1		1	ANKRD36	HGNC	HGNC:24079	protein_coding	YES	CCDS54379.1	ENSP00000391950	A6QL64		UPI0001B23BB4	NM_001164315.1	tolerated_low_confidence(0.15)		20/76																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	80	97164403	97164403	G	A	1	0	0	0	0	1	0	0	0	771	1261	44	3		3	ANKRD36	2	97164403	Missense_Mutation	SNP	G	C3N-01488_TP	1982971	97164403	145029126	93	26057											
ZAP70	0	.	GRCh38	chr2	97725140	97725140	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggccccgcaggtggagAagctcattgctacgacggcc	8	5	14	14	3	1	1	1	0	0	1	1	3	1	1	4	4	3	3	4	4	2	2	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.451A>T	p.Lys151Ter	p.K151*	ENST00000264972	4/14	348	321	27	355	355	0	strelka-varscan-mutect	ZAP70,stop_gained,p.Lys151Ter,ENST00000264972,NM_001079.3;ZAP70,non_coding_transcript_exon_variant,,ENST00000463643,;ZAP70,non_coding_transcript_exon_variant,,ENST00000483781,;	T	ENST00000264972	Transcript	stop_gained	666/2437	451/1860	151/619	K/*	Aag/Tag		1		1	ZAP70	HGNC	HGNC:12858	protein_coding	YES	CCDS33254.1	ENSP00000264972	P43403		UPI000013C370	NM_001079.3			4/14		Gene3D:2oq1A02,PIRSF_domain:PIRSF000604,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF262,Superfamily_domains:SSF55550																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	80	97725140	97725140	A	T	1	0	0	0	0	0	1	0	0	18075	247	9	4		4	ZAP70	2	97725140	Nonsense_Mutation	SNP	A	C3N-01488_TP	560737	97725140	144468389	94	26058											
TMEM131	0	.	GRCh38	chr2	97759747	97759747	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgacgggactccacaaacccGagctaaatgttacaagagga	15	6	10	10	2	0	2	0	1	0	1	1	5	1	4	2	2	3	2	2	2	5	2	rs747733812		C3N-01488_TP	C3N-01488_NB	G	G																c.5111C>G	p.Ser1704Trp	p.S1704W	ENST00000186436	39/41	153	111	42	188	188	0	strelka-varscan-mutect	TMEM131,missense_variant,p.Ser1704Trp,ENST00000186436,NM_015348.1;TMEM131,splice_region_variant,,ENST00000465767,;TMEM131,non_coding_transcript_exon_variant,,ENST00000485245,;TMEM131,non_coding_transcript_exon_variant,,ENST00000469447,;	C	ENST00000186436	Transcript	missense_variant,splice_region_variant	5340/6640	5111/5652	1704/1883	S/W	tCg/tGg	rs747733812	1		-1	TMEM131	HGNC	HGNC:30366	protein_coding	YES	CCDS46368.1	ENSP00000186436	Q92545		UPI00006C0498	NM_015348.1	deleterious_low_confidence(0)		39/41		Low_complexity_(Seg):seg,hmmpanther:PTHR22050:SF1,hmmpanther:PTHR22050																	MODERATE	1	SNV	5			1										PASS		rs747733812	.												C	3	2	80	97759747	97759747	G	C	1	0	0	0	0	1	0	0	0	16488	1072	37	4		4	TMEM131	2	97759747	Missense_Mutation	SNP	G	C3N-01488_TP	34607	97759747	144433782	95	26059											
INPP4A	0	.	GRCh38	chr2	98554293	98554293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcagctggtcacggtctGcgactgcaagctcctggcca	7	7	13	14	3	2	0	1	0	1	0	3	1	3	0	2	4	4	4	2	4	1	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1385G>A	p.Cys462Tyr	p.C462Y	ENST00000074304	16/26	124	102	22	136	135	1	strelka-varscan-mutect	INPP4A,missense_variant,p.Cys462Tyr,ENST00000409016,NM_004027.2;INPP4A,missense_variant,p.Cys462Tyr,ENST00000074304,NM_001134224.1;INPP4A,missense_variant,p.Cys457Tyr,ENST00000409851,NM_001134225.1;INPP4A,missense_variant,p.Cys462Tyr,ENST00000409540,NM_001566.2;INPP4A,missense_variant,p.Cys462Tyr,ENST00000523221,;INPP4A,intron_variant,,ENST00000409463,;INPP4A,upstream_gene_variant,,ENST00000468638,;	A	ENST00000074304	Transcript	missense_variant	1778/6752	1385/2934	462/977	C/Y	tGc/tAc		1		1	INPP4A	HGNC	HGNC:6074	protein_coding	YES	CCDS46369.1	ENSP00000074304	Q96PE3		UPI000006CD60	NM_001134224.1	deleterious(0.02)		16/26		hmmpanther:PTHR12187,hmmpanther:PTHR12187:SF4																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	80	98554293	98554293	G	A	1	0	0	0	0	1	0	0	0	7655	1319	46	3		3	INPP4A	2	98554293	Missense_Mutation	SNP	G	C3N-01488_TP	794546	98554293	143639236	96	26060											
RGPD4	0	.	GRCh38	chr2	107871820	107871820	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcagtacatgcttctccAttggcaagtagccctgtgag	9	11	10	11	0	2	1	1	1	1	0	3	1	2	1	2	1	4	5	2	1	3	4	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.3816A>T	p.=	p.P1272P	ENST00000408999	20/23	533	437	96	773	773	0	strelka-varscan-mutect	RGPD4,synonymous_variant,p.=,ENST00000408999,NM_182588.2;	T	ENST00000408999	Transcript	synonymous_variant	3893/5464	3816/5277	1272/1758	P	ccA/ccT		1		1	RGPD4	HGNC	HGNC:32417	protein_coding	YES	CCDS46381.1	ENSP00000386810	Q7Z3J3		UPI0000418FF7	NM_182588.2			20/23		Low_complexity_(Seg):seg,hmmpanther:PTHR23138:SF86,hmmpanther:PTHR23138																	LOW	1	SNV	1			1										PASS		rs772961976	.												T	2	4	80	107871820	107871820	A	T	1	0	0	0	0	0	0	0	1	13460	204	8	4		4	RGPD4	2	107871820	Silent	SNP	A	C3N-01488_TP	9317527	107871820	134321709	97	26061											
GLI2	0	.	GRCh38	chr2	120970511	120970511	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatccagccctcacccAccttcctggcccagcagccc	6	6	6	23	0	1	1	1	1	0	0	3	1	3	1	8	1	3	1	8	1	0	1	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.964A>T	p.Thr322Ser	p.T322S	ENST00000452319	7/14	290	228	62	362	361	1	strelka-varscan-mutect	GLI2,missense_variant,p.Thr322Ser,ENST00000452319,;GLI2,missense_variant,p.Thr322Ser,ENST00000361492,NM_005270.4;GLI2,downstream_gene_variant,,ENST00000360874,;GLI2,non_coding_transcript_exon_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,3_prime_UTR_variant,,ENST00000438299,;GLI2,3_prime_UTR_variant,,ENST00000452692,;GLI2,3_prime_UTR_variant,,ENST00000437950,;GLI2,3_prime_UTR_variant,,ENST00000433812,;	T	ENST00000452319	Transcript	missense_variant	1024/6799	964/4761	322/1586	T/S	Acc/Tcc		1		1	GLI2	HGNC	HGNC:4318	protein_coding	YES	CCDS33283.1	ENSP00000390436	P10070		UPI000053FCB4		tolerated(0.13)		7/14		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF73																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	120970511	120970511	A	T	1	0	0	0	0	1	0	0	0	6316	159	6	4		4	GLI2	2	120970511	Missense_Mutation	SNP	A	C3N-01488_TP	13098691	120970511	121223018	98	26062											
POTEF	0	.	GRCh38	chr2	130075235	130075235	+	Frame_Shift_Del	DEL	C	C	-																															aggactctttctgatgcatgCcccccatcatgccctgctgc																								rs760191584		C3N-01488_TP	C3N-01488_NB	C	C																c.2237delG	p.Gly746AlafsTer20	p.G746Afs*20	ENST00000409914	17/17	572	496	76	790	789	1	sindel-varindel	POTEF,frameshift_variant,p.Gly746AlafsTer20,ENST00000409914,NM_001099771.2;	-	ENST00000409914	Transcript	frameshift_variant	2637/3842	2237/3228	746/1075	G/X	gGc/gc	rs760191584,COSM4747878	1		-1	POTEF	HGNC	HGNC:33905	protein_coding	YES	CCDS46409.1	ENSP00000386786	A5A3E0		UPI0000418FEA	NM_001099771.2			17/17		Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50,Low_complexity_(Seg):seg,SMART_domains:SM00268,Superfamily_domains:SSF53067											0,1						HIGH	1	deletion	1		0,1	1										PASS		.	.												-	7	5	80	130075235	130075235	C	-	1	0	1	0	1	0	0	0	0	12379	739	26	0		0	POTEF	2	130075235	Frame_Shift_Del	DEL	C	C3N-01488_TP	9104724	130075235	112118294	99	26063											
CFC1	0	.	GRCh38	chr2	130598725	130598725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacctctccgaaatgactgGaggtccagttgagcggtgac	9	9	12	11	2	2	3	1	3	1	0	4	5	3	4	3	3	1	1	3	3	1	1	rs777951243		C3N-01488_TP	C3N-01488_NB	G	G																c.164C>A	p.Ser55Tyr	p.S55Y	ENST00000259216	3/6	200	186	14	255	255	0	varscan-mutect	CFC1,missense_variant,p.Ser55Tyr,ENST00000615342,NM_001270420.1;CFC1,missense_variant,p.Ser55Tyr,ENST00000621673,NM_001270421.1;CFC1,missense_variant,p.Ser55Tyr,ENST00000259216,NM_032545.3;Metazoa_SRP,upstream_gene_variant,,ENST00000621608,;	T	ENST00000259216	Transcript	missense_variant	427/1046	164/672	55/223	S/Y	tCc/tAc	rs777951243	1		-1	CFC1	HGNC	HGNC:18292	protein_coding	YES	CCDS2162.1	ENSP00000259216	P0CG37		UPI0000070FF1	NM_032545.3	tolerated(0.65)		3/6		hmmpanther:PTHR14949,hmmpanther:PTHR14949:SF25																	MODERATE	1	SNV	1			1										PASS		rs777951243	.												T	3	4	80	130598725	130598725	G	T	1	0	0	0	0	1	0	0	0	3038	1174	41	2		2	CFC1	2	130598725	Missense_Mutation	SNP	G	C3N-01488_TP	523490	130598725	111594804	100	26064											
POTEJ	0	.	GRCh38	chr2	130657103	130657103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggccaaccgcgagaaGatgacccagatcatgtttga	13	6	10	12	2	1	5	1	2	0	3	1	6	1	5	4	1	1	1	4	1	3	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.2343G>T	p.Lys781Asn	p.K781N	ENST00000409602	15/15	409	380	29	578	578	0	varscan-mutect	POTEJ,missense_variant,p.Lys781Asn,ENST00000409602,NM_001277083.1;	T	ENST00000409602	Transcript	missense_variant	2395/3383	2343/3117	781/1038	K/N	aaG/aaT		1		1	POTEJ	HGNC	HGNC:37094	protein_coding	YES	CCDS59432.1	ENSP00000387176	P0CG39		UPI0000DD7A4B	NM_001277083.1	deleterious_low_confidence(0.01)		15/15		Gene3D:3.30.420.40,Pfam_domain:PF00022,Prints_domain:PR00190,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	130657103	130657103	G	T	1	0	0	0	0	1	0	0	0	12383	933	33	2		2	POTEJ	2	130657103	Missense_Mutation	SNP	G	C3N-01488_TP	58378	130657103	111536426	101	26065											
POTEJ	0	.	GRCh38	chr2	130657118	130657118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaagatgacccagatcatGtttgagaccttcaacacccc	13	8	8	12	0	2	5	2	2	0	4	2	7	2	5	4	0	1	1	4	0	2	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.2358G>A	p.Met786Ile	p.M786I	ENST00000409602	15/15	260	242	18	384	384	0	varscan-mutect	POTEJ,missense_variant,p.Met786Ile,ENST00000409602,NM_001277083.1;	A	ENST00000409602	Transcript	missense_variant	2410/3383	2358/3117	786/1038	M/I	atG/atA		1		1	POTEJ	HGNC	HGNC:37094	protein_coding	YES	CCDS59432.1	ENSP00000387176	P0CG39		UPI0000DD7A4B	NM_001277083.1	deleterious_low_confidence(0.01)		15/15		Gene3D:3.30.420.40,Pfam_domain:PF00022,Prints_domain:PR00190,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	80	130657118	130657118	G	A	1	0	0	0	0	1	0	0	0	12383	1377	48	3		3	POTEJ	2	130657118	Missense_Mutation	SNP	G	C3N-01488_TP	15	130657118	111536411	102	26066											
POTEE	0	.	GRCh38	chr2	131264113	131264113	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgggcgggaactgccTgactacctcatgaagatcct	8	9	12	12	1	1	3	1	2	0	1	2	4	2	4	3	3	3	1	3	3	3	1	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.2658T>G	p.=	p.P886P	ENST00000356920	15/15	598	499	99	775	774	1	strelka-varscan-mutect	POTEE,synonymous_variant,p.=,ENST00000356920,NM_001083538.1;PLEKHB2,intron_variant,,ENST00000404460,;POTEE,downstream_gene_variant,,ENST00000626191,;POTEE,downstream_gene_variant,,ENST00000613282,;POTEE,downstream_gene_variant,,ENST00000358087,;POTEE,downstream_gene_variant,,ENST00000514256,;	G	ENST00000356920	Transcript	synonymous_variant	2994/4159	2658/3228	886/1075	P	ccT/ccG		1		1	POTEE	HGNC	HGNC:33895	protein_coding	YES	CCDS46414.1	ENSP00000439189	Q6S8J3		UPI0000F58EC8	NM_001083538.1			15/15		Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067																	LOW	1	SNV	1			1										PASS		rs1396559721	.												G	2	3	80	131264113	131264113	T	G	1	0	0	0	0	0	0	0	1	12378	1567	55	5		5	POTEE	2	131264113	Silent	SNP	T	C3N-01488_TP	606995	131264113	110929416	103	26067											
POTEE	0	.	GRCh38	chr2	131264520	131264520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcgctgccctggcgcCtagcatgatgaagatcagga	10	7	14	10	2	1	4	1	2	0	2	2	6	1	5	2	3	2	2	2	3	2	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.3065C>A	p.Pro1022His	p.P1022H	ENST00000356920	15/15	61	56	5	143	142	1	varscan-mutect	POTEE,missense_variant,p.Pro1022His,ENST00000356920,NM_001083538.1;PLEKHB2,intron_variant,,ENST00000404460,;POTEE,downstream_gene_variant,,ENST00000626191,;POTEE,downstream_gene_variant,,ENST00000613282,;POTEE,downstream_gene_variant,,ENST00000358087,;POTEE,downstream_gene_variant,,ENST00000514256,;	A	ENST00000356920	Transcript	missense_variant	3401/4159	3065/3228	1022/1075	P/H	cCt/cAt		1		1	POTEE	HGNC	HGNC:33895	protein_coding	YES	CCDS46414.1	ENSP00000439189	Q6S8J3		UPI0000F58EC8	NM_001083538.1	deleterious_low_confidence(0)		15/15		Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	131264520	131264520	C	A	1	0	0	0	0	1	0	0	0	12378	681	24	2		2	POTEE	2	131264520	Missense_Mutation	SNP	C	C3N-01488_TP	407	131264520	110929009	104	26068											
LRP1B	0	.	GRCh38	chr2	140923050	140923050	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcactaccatcttcacaGtctttttctccatcacagcg	9	14	3	15	1	7	0	4	0	3	0	8	0	7	0	2	0	2	0	2	0	1	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.3234C>G	p.Asp1078Glu	p.D1078E	ENST00000389484	21/91	212	173	39	338	338	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Asp1078Glu,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Asp223Glu,ENST00000434794,;	C	ENST00000389484	Transcript	missense_variant	4206/16535	3234/13800	1078/4599	D/E	gaC/gaG		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0)		21/91		PROSITE_profiles:PS50068,hmmpanther:PTHR10529:SF105,hmmpanther:PTHR10529,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261																	MODERATE	1	SNV	1			1										PASS		rs1367877453	.												C	3	2	80	140923050	140923050	G	C	1	0	0	0	0	1	0	0	0	8850	1020	36	4		4	LRP1B	2	140923050	Missense_Mutation	SNP	G	C3N-01488_TP	9658530	140923050	101270479	105	26069											
FMNL2	0	.	GRCh38	chr2	152611578	152611578	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcagtatgaatttacCaaattaggcctggacgaata	14	10	8	9	1	0	1	0	1	0	0	0	3	0	2	3	2	2	2	3	2	7	5	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1035C>T	p.=	p.T345T	ENST00000288670	11/26	153	135	18	201	201	0	strelka-varscan-mutect	FMNL2,synonymous_variant,p.=,ENST00000288670,NM_052905.3;FMNL2,downstream_gene_variant,,ENST00000492942,;	T	ENST00000288670	Transcript	synonymous_variant	1402/5575	1035/3279	345/1092	T	acC/acT		1		1	FMNL2	HGNC	HGNC:18267	protein_coding	YES	CCDS46429.1	ENSP00000288670	Q96PY5		UPI0000441EF9	NM_052905.3			11/26		Pfam_domain:PF06367,PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF180,SMART_domains:SM01139,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	80	152611578	152611578	C	T	1	0	0	0	0	0	0	0	1	5808	581	21	3		3	FMNL2	2	152611578	Silent	SNP	C	C3N-01488_TP	11688528	152611578	89581951	106	26070											
SCN1A	0	.	GRCh38	chr2	166039451	166039451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgaacggagaacagataatCcttccacattggcgagtcca	14	8	9	10	2	0	3	0	1	0	2	3	5	3	3	3	2	2	0	3	2	3	3			C3N-01488_TP	C3N-01488_NB	C	C																c.2561G>T	p.Gly854Val	p.G854V	ENST00000303395	16/28	205	164	41	327	327	0	strelka-varscan-mutect	SCN1A,missense_variant,p.Gly843Val,ENST00000635776,;SCN1A,missense_variant,p.Gly843Val,ENST00000637988,;SCN1A,missense_variant,p.Gly854Val,ENST00000303395,NM_001202435.1,NM_001165963.1;SCN1A,missense_variant,p.Gly843Val,ENST00000635750,;SCN1A,missense_variant,p.Gly854Val,ENST00000423058,;SCN1A,missense_variant,p.Gly843Val,ENST00000375405,NM_006920.4;SCN1A,missense_variant,p.Gly826Val,ENST00000409050,NM_001165964.1;AC010127.3,intron_variant,,ENST00000629609,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000628933,;AC010127.3,intron_variant,,ENST00000627027,;AC010127.3,intron_variant,,ENST00000630226,;AC010127.3,intron_variant,,ENST00000595268,;AC010127.3,downstream_gene_variant,,ENST00000597623,;SCN1A,3_prime_UTR_variant,,ENST00000636194,;SCN1A,3_prime_UTR_variant,,ENST00000636759,;SCN1A,non_coding_transcript_exon_variant,,ENST00000637968,;SCN1A,upstream_gene_variant,,ENST00000637038,;	A	ENST00000303395	Transcript	missense_variant	2979/8533	2561/6030	854/2009	G/V	gGa/gTa	CD061467	1		-1	SCN1A	HGNC	HGNC:10585	protein_coding	YES	CCDS54413.1	ENSP00000303540	P35498		UPI000003C71D	NM_001202435.1,NM_001165963.1	deleterious(0)		16/28		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF220,Superfamily_domains:SSF81324																	MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	80	166039451	166039451	C	A	1	0	0	0	0	1	0	0	0	14183	855	30	2		2	SCN1A	2	166039451	Missense_Mutation	SNP	C	C3N-01488_TP	13427873	166039451	76154078	107	26071											
RAPGEF4	0	.	GRCh38	chr2	172988809	172988809	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactgccatttcttaagagtAgacaaggaggatttcaaccg	14	10	9	8	1	2	2	1	0	1	2	2	4	2	4	2	2	3	1	2	2	5	4	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1344A>G	p.=	p.V448V	ENST00000397081	14/31	190	152	38	253	252	1	strelka-varscan-mutect	RAPGEF4,synonymous_variant,p.=,ENST00000397081,NM_007023.3;RAPGEF4,synonymous_variant,p.=,ENST00000397087,NM_001100397.1;RAPGEF4,synonymous_variant,p.=,ENST00000409036,;RAPGEF4,synonymous_variant,p.=,ENST00000540783,NM_001282899.1;RAPGEF4,synonymous_variant,p.=,ENST00000538974,NM_001282900.1;RAPGEF4,synonymous_variant,p.=,ENST00000535187,NM_001282901.1;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000473043,;RAPGEF4,downstream_gene_variant,,ENST00000459852,;	G	ENST00000397081	Transcript	synonymous_variant	1487/4299	1344/3036	448/1011	V	gtA/gtG		1		1	RAPGEF4	HGNC	HGNC:16626	protein_coding	YES	CCDS42775.1	ENSP00000380271	Q8WZA2		UPI000006D4C7	NM_007023.3			14/31		Gene3D:2.60.120.10,Pfam_domain:PF00027,PROSITE_profiles:PS50042,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF175,SMART_domains:SM00100,Superfamily_domains:SSF51206																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	80	172988809	172988809	A	G	1	0	0	0	0	0	0	0	1	13205	407	15	5		5	RAPGEF4	2	172988809	Silent	SNP	A	C3N-01488_TP	6949358	172988809	69204720	108	26072											
TTN	0	.	GRCh38	chr2	178636155	178636155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccacgtcacgctcttTgtttaactcgcagctcaagt	9	11	7	14	3	3	1	2	0	1	1	4	1	3	1	2	0	2	4	2	0	2	3	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.41416A>G	p.Lys13806Glu	p.K13806E	ENST00000589042	226/363	107	90	17	154	153	1	strelka-varscan-mutect	TTN,missense_variant,p.Lys13806Glu,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Lys12165Glu,ENST00000591111,;TTN,missense_variant,p.Lys12165Glu,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Lys11238Glu,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Lys4741Glu,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Lys4933Glu,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Lys4866Glu,ENST00000359218,NM_133432.3;TTN,downstream_gene_variant,,ENST00000414766,;TTN,downstream_gene_variant,,ENST00000446966,;TTN,downstream_gene_variant,,ENST00000426232,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000626954,;TTN-AS1,upstream_gene_variant,,ENST00000431752,;TTN-AS1,downstream_gene_variant,,ENST00000589907,;TTN-AS1,upstream_gene_variant,,ENST00000418062,;TTN-AS1,downstream_gene_variant,,ENST00000628296,;	C	ENST00000589042	Transcript	missense_variant	41641/109224	41416/107976	13806/35991	K/E	Aaa/Gaa		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			226/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	80	178636155	178636155	T	C	1	0	0	0	0	1	0	0	0	17245	1821	63	5		5	TTN	2	178636155	Missense_Mutation	SNP	T	C3N-01488_TP	5647346	178636155	63557374	109	26073											
TTN	0	.	GRCh38	chr2	178728652	178728652	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagtatctactgggaactAtttgtttcccgtctttaagc	11	15	7	8	1	2	0	0	0	2	0	3	1	3	1	1	1	3	2	1	1	7	7	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.19274T>C	p.Ile6425Thr	p.I6425T	ENST00000589042	66/363	164	136	28	253	253	0	strelka-varscan-mutect	TTN,missense_variant,p.Ile6425Thr,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Ile6108Thr,ENST00000591111,;TTN,missense_variant,p.Ile6108Thr,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Ile5181Thr,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;RP11-171I2.1,downstream_gene_variant,,ENST00000590024,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;	G	ENST00000589042	Transcript	missense_variant	19499/109224	19274/107976	6425/35991	I/T	aTa/aCa		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			66/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	80	178728652	178728652	A	G	1	0	0	0	0	1	0	0	0	17245	449	16	5		5	TTN	2	178728652	Missense_Mutation	SNP	A	C3N-01488_TP	92497	178728652	63464877	110	26074											
ZNF385B	0	.	GRCh38	chr2	179446747	179446747	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggctgactggaactgcTggcttttaacttccctttat	7	16	9	9	0	0	2	0	2	0	0	1	3	1	3	1	3	3	3	1	3	3	5	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.694A>C	p.Ser232Arg	p.S232R	ENST00000410066	7/10	114	106	8	163	163	0	strelka-varscan-mutect	ZNF385B,missense_variant,p.Ser232Arg,ENST00000410066,NM_152520.4;ZNF385B,missense_variant,p.Ser156Arg,ENST00000409343,NM_001113397.1;ZNF385B,missense_variant,p.Ser130Arg,ENST00000336917,NM_001113398.1;ZNF385B,missense_variant,p.Ser130Arg,ENST00000409692,NM_001282725.1;ZNF385B,missense_variant,p.Ser130Arg,ENST00000457304,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000466398,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000469551,;ZNF385B,non_coding_transcript_exon_variant,,ENST00000475539,;	G	ENST00000410066	Transcript	missense_variant	1298/3288	694/1416	232/471	S/R	Agc/Cgc		1		-1	ZNF385B	HGNC	HGNC:26332	protein_coding	YES	CCDS33339.1	ENSP00000386845	Q569K4		UPI00004F9C24	NM_152520.4	tolerated(0.51)		7/10		Low_complexity_(Seg):seg,hmmpanther:PTHR23067:SF8,hmmpanther:PTHR23067																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	179446747	179446747	T	G	1	0	0	0	0	1	0	0	0	18449	1580	55	5		5	ZNF385B	2	179446747	Missense_Mutation	SNP	T	C3N-01488_TP	718095	179446747	62746782	111	26075											
PLCL1	0	.	GRCh38	chr2	198084768	198084768	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctctcataacacctatctAatagaagaccagttcagggg	13	9	8	11	0	3	2	2	0	2	2	4	2	3	2	3	2	1	1	3	2	5	5	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1251A>T	p.=	p.L417L	ENST00000428675	2/6	156	131	25	240	240	0	strelka-varscan-mutect	PLCL1,synonymous_variant,p.=,ENST00000437704,;PLCL1,synonymous_variant,p.=,ENST00000428675,NM_006226.3;PLCL1,synonymous_variant,p.=,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;	T	ENST00000428675	Transcript	synonymous_variant	1649/5125	1251/3288	417/1095	L	ctA/ctT		1		1	PLCL1	HGNC	HGNC:9063	protein_coding	YES	CCDS2326.2	ENSP00000402861	Q15111		UPI000165BCF5	NM_006226.3			2/6		PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF102,Pfam_domain:PF00388,Gene3D:3.20.20.190,SMART_domains:SM00148,Superfamily_domains:SSF51695,Prints_domain:PR00390																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	80	198084768	198084768	A	T	1	0	0	0	0	0	0	0	1	12133	349	13	4		4	PLCL1	2	198084768	Silent	SNP	A	C3N-01488_TP	18638021	198084768	44108761	112	26076											
MAP2	0	.	GRCh38	chr2	209693684	209693684	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccctgtaagtttggagcAagcagttacagattcagcca	11	11	10	9	0	1	1	1	0	0	1	2	2	2	2	2	1	4	6	2	1	3	5	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1514A>T	p.Gln505Leu	p.Q505L	ENST00000360351	7/15	148	114	34	211	211	0	strelka-varscan-mutect	MAP2,missense_variant,p.Gln505Leu,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Gln501Leu,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,NM_031845.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;	T	ENST00000360351	Transcript	missense_variant	2020/9711	1514/5484	505/1827	Q/L	cAa/cTa		1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3	deleterious_low_confidence(0.01)		7/15		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15,Pfam_domain:PF08377																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	209693684	209693684	A	T	1	0	0	0	0	1	0	0	0	9157	130	5	4		4	MAP2	2	209693684	Missense_Mutation	SNP	A	C3N-01488_TP	11608916	209693684	32499845	113	26077											
SPAG16	0	.	GRCh38	chr2	214014003	214014003	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattctgtgaacagcattGagttttttcctttctccaat	9	17	6	9	0	2	3	0	2	2	1	4	3	3	3	2	0	2	2	2	0	2	6			C3N-01488_TP	C3N-01488_NB	G	G																c.1453G>T	p.Glu485Ter	p.E485*	ENST00000331683	13/16	205	189	16	252	252	0	strelka-varscan-mutect	SPAG16,stop_gained,p.Glu485Ter,ENST00000331683,NM_024532.4;SPAG16,stop_gained,p.Glu109Ter,ENST00000451561,;SPAG16,non_coding_transcript_exon_variant,,ENST00000480494,;SPAG16,3_prime_UTR_variant,,ENST00000452556,;SPAG16,3_prime_UTR_variant,,ENST00000406979,;	T	ENST00000331683	Transcript	stop_gained	1548/2177	1453/1896	485/631	E/*	Gag/Tag	COSM4624556,COSM5517311	1		1	SPAG16	HGNC	HGNC:23225	protein_coding	YES	CCDS2396.1	ENSP00000332592	Q8N0X2		UPI00001AFF12	NM_024532.4			13/16		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR14604:SF3,hmmpanther:PTHR14604,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												T	4	4	80	214014003	214014003	G	T	1	0	0	0	0	0	1	0	0	15309	1291	45	2		2	SPAG16	2	214014003	Nonsense_Mutation	SNP	G	C3N-01488_TP	4320319	214014003	28179526	114	26078											
CFAP65	0	.	GRCh38	chr2	219010554	219010554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctttccccacctgtccagGcaccaccagcctagagtgta	8	8	7	18	0	0	1	0	0	0	1	2	1	2	1	8	1	1	2	8	1	2	3			C3N-01488_TP	C3N-01488_NB	G	G																c.4300C>G	p.Pro1434Ala	p.P1434A	ENST00000341552	26/35	200	173	27	281	280	1	strelka-varscan-mutect	CFAP65,missense_variant,p.Pro1434Ala,ENST00000341552,NM_194302.3;CFAP65,missense_variant,p.Pro1434Ala,ENST00000453220,;AC097468.4,intron_variant,,ENST00000441450,;	C	ENST00000341552	Transcript	missense_variant	4384/5953	4300/5778	1434/1925	P/A	Cct/Gct	COSM1016539	1		-1	CFAP65	HGNC	HGNC:25325	protein_coding	YES	CCDS2430.2	ENSP00000340776	Q6ZU64		UPI0000609097	NM_194302.3	deleterious(0.02)		26/35		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF223											1						MODERATE		SNV	5		1	1										PASS		.	.												C	3	2	80	219010554	219010554	G	C	1	0	0	0	0	1	0	0	0	3029	1203	42	4		4	CFAP65	2	219010554	Missense_Mutation	SNP	G	C3N-01488_TP	4996551	219010554	23182975	115	26079											
DAW1	0	.	GRCh38	chr2	227885349	227885349	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatgtttgtttatttctatAggaattatgttggaatatga	12	19	8	2	0	1	1	0	1	1	0	1	3	1	3	0	2	0	3	0	2	7	9	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.41-2A>T		p.X14_splice	ENST00000309931		100	90	10	146	146	0	strelka-mutect	DAW1,splice_acceptor_variant,,ENST00000373666,;DAW1,splice_acceptor_variant,,ENST00000309931,NM_178821.1;DAW1,splice_acceptor_variant,,ENST00000440997,;SNORA25,upstream_gene_variant,,ENST00000607153,;DAW1,upstream_gene_variant,,ENST00000472604,;DAW1,splice_acceptor_variant,,ENST00000454999,;	T	ENST00000309931	Transcript	splice_acceptor_variant	-/1704	41/1248	14/415				1		1	DAW1	HGNC	HGNC:26383	protein_coding	YES	CCDS2470.1	ENSP00000311899	Q8N136	A0A140VKH6	UPI000006EAC6	NM_178821.1				1/12																		HIGH	1	SNV	1			1										PASS		rs974168180	.												T	5	4	80	227885349	227885349	A	T	1	0	0	0	0	0	0	1	0	4043	434	15	4		4	DAW1	2	227885349	Splice_Site	SNP	A	C3N-01488_TP	8874795	227885349	14308180	116	26080											
SPHKAP	0	.	GRCh38	chr2	228017187	228017187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagagaaggagacagcaGgccggctgtccaatcctggc	10	5	14	12	2	0	2	0	0	0	2	3	4	2	2	3	4	1	3	3	4	2	0			C3N-01488_TP	C3N-01488_NB	G	G																c.3667C>A	p.Leu1223Met	p.L1223M	ENST00000392056	7/12	169	146	23	212	212	0	strelka-varscan-mutect	SPHKAP,missense_variant,p.Leu1223Met,ENST00000392056,NM_001142644.1;SPHKAP,missense_variant,p.Leu1223Met,ENST00000344657,NM_030623.3;	T	ENST00000392056	Transcript	missense_variant	3714/6917	3667/5103	1223/1700	L/M	Ctg/Atg	COSM5261127,COSM5261128	1		-1	SPHKAP	HGNC	HGNC:30619	protein_coding	YES	CCDS46537.1	ENSP00000375909	Q2M3C7		UPI0000411D7E	NM_001142644.1	deleterious(0)		7/12		hmmpanther:PTHR10226:SF7,hmmpanther:PTHR10226											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	80	228017187	228017187	G	T	1	0	0	0	0	1	0	0	0	15399	991	35	2		2	SPHKAP	2	228017187	Missense_Mutation	SNP	G	C3N-01488_TP	131838	228017187	14176342	117	26081											
COPS7B	0	.	GRCh38	chr2	231794302	231794302	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactgagcacagctcagcAgaacaagctgaagcatctta	16	6	9	10	0	2	4	1	2	1	2	2	4	2	4	0	0	7	5	0	0	5	1	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.278A>G	p.Gln93Arg	p.Q93R	ENST00000410017	4/8	185	154	31	257	257	0	strelka-varscan-mutect	COPS7B,missense_variant,p.Gln93Arg,ENST00000373608,NM_001282950.1;COPS7B,missense_variant,p.Gln93Arg,ENST00000350033,NM_022730.2;COPS7B,missense_variant,p.Gln93Arg,ENST00000410017,NM_001308381.1;COPS7B,missense_variant,p.Gln93Arg,ENST00000410024,;COPS7B,missense_variant,p.Gln59Arg,ENST00000409295,NM_001282949.1;COPS7B,5_prime_UTR_variant,,ENST00000620578,NM_001282952.1;COPS7B,5_prime_UTR_variant,,ENST00000409091,;COPS7B,intron_variant,,ENST00000611614,NM_001282951.1;COPS7B,intron_variant,,ENST00000412591,;COPS7B,upstream_gene_variant,,ENST00000449174,;COPS7B,downstream_gene_variant,,ENST00000631349,;COPS7B,3_prime_UTR_variant,,ENST00000413197,;COPS7B,3_prime_UTR_variant,,ENST00000449784,;COPS7B,3_prime_UTR_variant,,ENST00000436564,;COPS7B,non_coding_transcript_exon_variant,,ENST00000461350,;COPS7B,non_coding_transcript_exon_variant,,ENST00000488111,;COPS7B,non_coding_transcript_exon_variant,,ENST00000474042,;COPS7B,intron_variant,,ENST00000412922,;COPS7B,downstream_gene_variant,,ENST00000452375,;COPS7B,downstream_gene_variant,,ENST00000466901,;COPS7B,downstream_gene_variant,,ENST00000432387,;COPS7B,downstream_gene_variant,,ENST00000357490,;COPS7B,downstream_gene_variant,,ENST00000450501,;RP11-690I21.1,upstream_gene_variant,,ENST00000452854,;	G	ENST00000410017	Transcript	missense_variant	388/2051	278/837	93/278	Q/R	cAg/cGg		1		1	COPS7B	HGNC	HGNC:16760	protein_coding	YES	CCDS77539.1	ENSP00000386880		J3KQ41	UPI0000E1FA1C	NM_001308381.1	tolerated(0.55)		4/8		Pfam_domain:PF01399,hmmpanther:PTHR15350,hmmpanther:PTHR15350:SF8,SMART_domains:SM00088,SMART_domains:SM00753																	MODERATE	1	SNV	3			1										PASS		.	.												G	3	3	80	231794302	231794302	A	G	1	0	0	0	0	1	0	0	0	3532	188	7	5		5	COPS7B	2	231794302	Missense_Mutation	SNP	A	C3N-01488_TP	3777115	231794302	10399227	118	26082											
USP40	0	.	GRCh38	chr2	233549173	233549173	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcctccgtagcagccaccTttgtgtataataactgagaa	11	11	9	10	1	0	1	0	1	0	1	1	2	1	1	4	1	3	3	4	1	5	5	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.930A>T	p.Lys310Asn	p.K310N	ENST00000450966	7/31	154	145	9	241	241	0	strelka-varscan-mutect	USP40,missense_variant,p.Lys298Asn,ENST00000251722,;USP40,missense_variant,p.Lys310Asn,ENST00000450966,NM_018218.2;USP40,missense_variant,p.Lys298Asn,ENST00000427112,;RP11-289A15.1,downstream_gene_variant,,ENST00000604535,;	A	ENST00000450966	Transcript	missense_variant	930/5616	930/3744	310/1247	K/N	aaA/aaT		1		-1	USP40	HGNC	HGNC:20069	protein_coding	YES	CCDS46547.1	ENSP00000415434	Q9NVE5		UPI0000232F06	NM_018218.2	deleterious(0)		7/31		Pfam_domain:PF00443,PROSITE_patterns:PS00973,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF514,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	233549173	233549173	T	A	1	0	0	0	0	1	0	0	0	17614	1606	56	4		4	USP40	2	233549173	Missense_Mutation	SNP	T	C3N-01488_TP	1754871	233549173	8644356	119	26083											
TRAF3IP1	0	.	GRCh38	chr2	238328935	238328935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatttcgtaggatagaggaGacgctgaaataaaagagaga	17	9	12	3	2	0	5	0	1	0	4	1	8	0	6	0	2	0	2	0	2	6	5	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.508G>A	p.Asp170Asn	p.D170N	ENST00000373327	5/17	57	43	14	110	109	1	strelka-mutect	TRAF3IP1,missense_variant,p.Asp170Asn,ENST00000373327,NM_015650.3;TRAF3IP1,missense_variant,p.Asp170Asn,ENST00000391993,NM_001139490.1;TRAF3IP1,3_prime_UTR_variant,,ENST00000409739,;	A	ENST00000373327	Transcript	missense_variant	730/4279	508/2076	170/691	D/N	Gac/Aac		1		1	TRAF3IP1	HGNC	HGNC:17861	protein_coding	YES	CCDS33415.1	ENSP00000362424	Q8TDR0		UPI0000070E5D	NM_015650.3	tolerated(0.97)		5/17		Pfam_domain:PF10243,hmmpanther:PTHR31363,hmmpanther:PTHR31363:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	238328935	238328935	G	A	1	0	0	0	0	1	0	0	0	16923	942	33	3		3	TRAF3IP1	2	238328935	Missense_Mutation	SNP	G	C3N-01488_TP	4779762	238328935	3864594	120	26084											
KIF1A	0	.	GRCh38	chr2	240737090	240737090	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgggctgggtggatgtatCcggaagagaggatgttgaga	9	10	18	4	1	0	2	0	1	0	2	1	7	1	5	1	5	0	3	1	5	2	3	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.3980G>T	p.Gly1327Val	p.G1327V	ENST00000498729	38/49	128	111	17	174	173	1	strelka-varscan-mutect	KIF1A,missense_variant,p.Gly1327Val,ENST00000498729,NM_001244008.1;KIF1A,missense_variant,p.Gly1226Val,ENST00000320389,NM_004321.6;KIF1A,missense_variant,p.Gly1327Val,ENST00000404283,;KIF1A,missense_variant,p.Gly150Val,ENST00000431776,;KIF1A,non_coding_transcript_exon_variant,,ENST00000494452,;	A	ENST00000498729	Transcript	missense_variant	4227/9223	3980/5376	1327/1791	G/V	gGa/gTa		1		-1	KIF1A	HGNC	HGNC:888	protein_coding	YES	CCDS58757.1	ENSP00000438388	Q12756		UPI0002065B81	NM_001244008.1	tolerated(0.13)		38/49		Pfam_domain:PF12473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	240737090	240737090	C	A	1	0	0	0	0	1	0	0	0	8147	855	30	2		2	KIF1A	2	240737090	Missense_Mutation	SNP	C	C3N-01488_TP	2408155	240737090	1456439	121	26085											
CROCC2	0	.	GRCh38	chr2	240946180	240946180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgctctgtctgaggagcggGcccagctgctggccaagcag	7	7	15	12	1	2	1	0	1	2	0	2	2	2	2	2	3	5	4	2	3	1	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.2290G>T	p.Ala764Ser	p.A764S	ENST00000443866	15/32	94	84	10	96	96	0	strelka-varscan-mutect	CROCC2,missense_variant,p.Ala764Ser,ENST00000443866,;CROCC2,upstream_gene_variant,,ENST00000480779,;	T	ENST00000443866	Transcript	missense_variant	2474/5382	2290/4968	764/1655	A/S	Gcc/Tcc		1		1	CROCC2	HGNC	HGNC:51677	protein_coding	YES		ENSP00000397968	H7BZ55		UPI0004F2364A		tolerated(0.11)		15/32		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159:SF16,hmmpanther:PTHR23159																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	240946180	240946180	G	T	1	0	0	0	0	1	0	0	0	3695	1203	42	2		2	CROCC2	2	240946180	Missense_Mutation	SNP	G	C3N-01488_TP	209090	240946180	1247349	122	26086											
CHL1	0	.	GRCh38	chr3	377870	377870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgtaactttagaggacCaaggtatttactgctgttca	12	14	8	7	0	1	1	1	0	0	1	1	2	1	2	1	2	3	4	1	2	6	8	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1804C>A	p.Gln602Lys	p.Q602K	ENST00000256509	16/28	138	117	21	270	269	1	strelka-varscan-mutect	CHL1,missense_variant,p.Gln602Lys,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Gln602Lys,ENST00000620033,NM_001253388.1;CHL1,missense_variant,p.Gln586Lys,ENST00000397491,NM_001253387.1;CHL1-AS1,intron_variant,,ENST00000417612,;CHL1-AS1,upstream_gene_variant,,ENST00000608098,;CHL1,non_coding_transcript_exon_variant,,ENST00000470880,;CHL1,upstream_gene_variant,,ENST00000470005,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	A	ENST00000256509	Transcript	missense_variant	2446/8023	1804/3675	602/1224	Q/K	Caa/Aaa		1		1	CHL1	HGNC	HGNC:1939	protein_coding	YES	CCDS2556.1	ENSP00000256509	O00533		UPI000013CF0F	NM_006614.3	tolerated(0.07)		16/28		Gene3D:2.60.40.10,Pfam_domain:PF00047,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF653,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	377870	377870	C	A	1	0	0	0	0	1	0	0	0	3108	595	21	2		2	CHL1	3	377870	Missense_Mutation	SNP	C	C3N-01488_TP		377870	197917689	123	26087											
CNTN4	0	.	GRCh38	chr3	3043070	3043070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatcacgaacttaaaaGgcagtgtgctgtatcactta	16	10	7	8	1	2	0	2	0	0	0	2	1	2	0	0	1	2	3	0	1	7	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.2605G>T	p.Gly869Cys	p.G869C	ENST00000397461	21/24	419	339	80	656	656	0	strelka-varscan-mutect	CNTN4,missense_variant,p.Gly869Cys,ENST00000397461,NM_001206955.1;CNTN4,missense_variant,p.Gly869Cys,ENST00000418658,NM_175607.2;CNTN4,missense_variant,p.Gly869Cys,ENST00000427331,;CNTN4,missense_variant,p.Gly541Cys,ENST00000397459,NM_001206956.1,NM_175613.2;CNTN4-AS1,intron_variant,,ENST00000442749,;CNTN4-AS1,intron_variant,,ENST00000629672,;CNTN4,non_coding_transcript_exon_variant,,ENST00000484686,;CNTN4,downstream_gene_variant,,ENST00000427741,;	T	ENST00000397461	Transcript	missense_variant	2989/5198	2605/3081	869/1026	G/C	Ggc/Tgc		1		1	CNTN4	HGNC	HGNC:2174	protein_coding	YES	CCDS43041.1	ENSP00000380602	Q8IWV2	A0A024R2E5	UPI000007446C	NM_001206955.1	deleterious(0)		21/24		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF568,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		rs1194216177	.												T	3	4	80	3043070	3043070	G	T	1	0	0	0	0	1	0	0	0	3424	1000	35	2		2	CNTN4	3	3043070	Missense_Mutation	SNP	G	C3N-01488_TP	2665200	3043070	195252489	124	26088											
SRGAP3	0	.	GRCh38	chr3	9025264	9025264	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgctctgcacccacctcTctcaaaggaatttttgatgt	8	13	8	12	1	3	1	1	1	2	0	5	2	3	2	2	2	1	2	2	2	2	2			C3N-01488_TP	C3N-01488_NB	T	T																c.1675A>G	p.Arg559Gly	p.R559G	ENST00000383836	14/22	398	327	71	530	530	0	strelka-varscan-mutect	SRGAP3,missense_variant,p.Arg559Gly,ENST00000383836,NM_014850.3;SRGAP3,missense_variant,p.Arg535Gly,ENST00000360413,NM_001033117.2;SRGAP3,3_prime_UTR_variant,,ENST00000618999,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000433332,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000475560,;	C	ENST00000383836	Transcript	missense_variant	2103/8656	1675/3300	559/1099	R/G	Aga/Gga	COSM328515	1		-1	SRGAP3	HGNC	HGNC:19744	protein_coding	YES	CCDS2572.1	ENSP00000373347	O43295		UPI0000074099	NM_014850.3	deleterious(0)		14/22		PROSITE_profiles:PS50238,hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF8,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	80	9025264	9025264	T	C	1	0	0	0	0	1	0	0	0	15508	1565	54	5		5	SRGAP3	3	9025264	Missense_Mutation	SNP	T	C3N-01488_TP	5982194	9025264	189270295	125	26089											
MKRN2OS	0	.	GRCh38	chr3	12545455	12545455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaagccttcccagcctctgCgcagtgcatagctttcgcct	7	11	8	15	2	1	0	0	0	1	0	3	0	2	0	4	0	5	3	4	0	3	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.10G>T	p.Ala4Ser	p.A4S	ENST00000564146	1/4	75	52	23	120	120	0	strelka-varscan-mutect	MKRN2OS,missense_variant,p.Ala4Ser,ENST00000564146,NM_001195279.1;MKRN2OS,intron_variant,,ENST00000567514,;MKRN2OS,missense_variant,p.Ala4Ser,ENST00000561645,;	A	ENST00000564146	Transcript	missense_variant	102/985	10/672	4/223	A/S	Gca/Tca		1		-1	MKRN2OS	HGNC	HGNC:40375	protein_coding	YES	CCDS58816.1	ENSP00000455385	H3BPM6		UPI0001E13BF6	NM_001195279.1	tolerated_low_confidence(0.83)		1/4																			MODERATE	1	SNV	5			1										PASS		rs1235025623	.												A	3	1	80	12545455	12545455	C	A	1	0	0	0	0	1	0	0	0	9575	768	27	1		1	MKRN2OS	3	12545455	Missense_Mutation	SNP	C	C3N-01488_TP	3520191	12545455	185750104	126	26090											
CCDC174	0	.	GRCh38	chr3	14651853	14651853	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccatggaccgtaggaaaaAgcctttggacgtcacggcct	11	7	12	11	3	1	0	1	0	0	0	1	4	1	3	4	4	1	1	4	4	3	2	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.17A>T	p.Lys6Met	p.K6M	ENST00000383794	1/11	314	272	42	384	384	0	strelka-varscan-mutect	CCDC174,missense_variant,p.Lys6Met,ENST00000383794,NM_016474.4;CCDC174,missense_variant,p.Lys6Met,ENST00000303688,;CCDC174,5_prime_UTR_variant,,ENST00000611584,;AC090952.5,upstream_gene_variant,,ENST00000424242,;CCDC174,non_coding_transcript_exon_variant,,ENST00000465759,;CCDC174,non_coding_transcript_exon_variant,,ENST00000463438,;	T	ENST00000383794	Transcript	missense_variant	90/2942	17/1404	6/467	K/M	aAg/aTg		1		1	CCDC174	HGNC	HGNC:28033	protein_coding	YES	CCDS2620.2	ENSP00000373304	Q6PII3		UPI00004120DD	NM_016474.4	deleterious(0)		1/11		hmmpanther:PTHR15885																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	14651853	14651853	A	T	1	0	0	0	0	1	0	0	0	2491	72	3	4		4	CCDC174	3	14651853	Missense_Mutation	SNP	A	C3N-01488_TP	2106398	14651853	183643706	127	26091											
RARB	0	.	GRCh38	chr3	25569760	25569760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctctcgtttccagctGtcaggaatgacaggaacaag	10	11	9	11	1	3	1	1	1	2	0	6	3	4	3	1	2	2	2	1	2	3	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.451G>T	p.Val151Phe	p.V151F	ENST00000330688	4/8	78	66	12	127	127	0	strelka-varscan-mutect	RARB,missense_variant,p.Val151Phe,ENST00000330688,NM_001290266.1,NM_001290277.1,NM_000965.4;RARB,missense_variant,p.Val39Phe,ENST00000437042,NM_001290276.1,NM_016152.3;RARB,missense_variant,p.Val39Phe,ENST00000458646,NM_001290217.1;RARB,missense_variant,p.Val158Phe,ENST00000383772,NM_001290216.1;RARB,splice_region_variant,,ENST00000462272,;RARB,splice_region_variant,,ENST00000480001,;RARB,intron_variant,,ENST00000479097,;	T	ENST00000330688	Transcript	missense_variant,splice_region_variant	872/3084	451/1347	151/448	V/F	Gtc/Ttc		1		1	RARB	HGNC	HGNC:9865	protein_coding	YES	CCDS2642.1	ENSP00000332296	P10826	F1D8S6	UPI000002B2CB	NM_001290266.1,NM_001290277.1,NM_000965.4	deleterious(0)		4/8		Gene3D:3.30.50.10,Prints_domain:PR00398,Prints_domain:PR01292,PROSITE_profiles:PS51030,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF115,Superfamily_domains:SSF48508,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	25569760	25569760	G	T	1	0	0	0	0	1	0	0	0	13212	1391	48	2		2	RARB	3	25569760	Missense_Mutation	SNP	G	C3N-01488_TP	10917907	25569760	172725799	128	26092											
NEK10	0	.	GRCh38	chr3	27119847	27119847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaaaagttgggctcaatcgGttctggagatccctgagata	12	10	12	7	1	2	2	1	1	1	2	4	5	3	2	1	3	0	3	1	3	4	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.3274C>A	p.Pro1092Thr	p.P1092T	ENST00000429845	36/39	240	202	38	348	348	0	strelka-varscan-mutect	NEK10,missense_variant,p.Pro1092Thr,ENST00000429845,NM_152534.4;NEK10,missense_variant,p.Pro404Thr,ENST00000295720,NM_001304384.1;NEK10,missense_variant,p.Pro394Thr,ENST00000383771,NM_001031741.3;NEK10,missense_variant,p.Pro338Thr,ENST00000383770,;	T	ENST00000429845	Transcript	missense_variant	3637/4250	3274/3519	1092/1172	P/T	Ccg/Acg		1		-1	NEK10	HGNC	HGNC:18592	protein_coding			ENSP00000395849	Q6ZWH5		UPI0000EE2A86	NM_152534.4	tolerated(0.31)		36/39																			MODERATE		SNV	5			1										PASS		.	.												T	3	4	80	27119847	27119847	G	T	1	0	0	0	0	1	0	0	0	10350	1261	44	2		2	NEK10	3	27119847	Missense_Mutation	SNP	G	C3N-01488_TP	1550087	27119847	171175712	129	26093											
TGFBR2	0	.	GRCh38	chr3	30672214	30672214	+	Frame_Shift_Del	DEL	G	G	-																															gacgcggcatgtcatcagctGggaggacctgcgcaagctgg																								novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1108delG	p.Glu370ArgfsTer43	p.E370Rfs*43	ENST00000359013	5/8	80	67	13	141	141	0	sindel-varindel-pindel	TGFBR2,frameshift_variant,p.Glu345ArgfsTer43,ENST00000295754,NM_003242.5;TGFBR2,frameshift_variant,p.Glu370ArgfsTer43,ENST00000359013,NM_001024847.2;	-	ENST00000359013	Transcript	frameshift_variant	1389/4605	1106/1779	369/592	W/X	tGg/tg		1		1	TGFBR2	HGNC	HGNC:11773	protein_coding	YES	CCDS33727.1	ENSP00000351905	P37173	D2JYI1	UPI000053030E	NM_001024847.2			5/8		PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF55,PIRSF_domain:PIRSF037393,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	80	30672214	30672214	G	-	1	0	1	0	1	0	0	0	0	16255	1357	47	0		0	TGFBR2	3	30672214	Frame_Shift_Del	DEL	G	C3N-01488_TP	3552367	30672214	167623345	130	26094											
TMPPE	0	.	GRCh38	chr3	33093636	33093636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacagttttcacagccgggGgctgcgcggcattcagaatc	8	8	12	13	3	2	1	2	0	0	1	3	1	2	1	2	3	2	3	2	3	1	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.560C>T	p.Pro187Leu	p.P187L	ENST00000342462	2/2	152	141	11	204	203	1	strelka-varscan-mutect	TMPPE,missense_variant,p.Pro187Leu,ENST00000342462,NM_001039770.2;TMPPE,missense_variant,p.Pro50Leu,ENST00000416695,NM_001136238.1;GLB1,intron_variant,,ENST00000307363,NM_000404.2;GLB1,intron_variant,,ENST00000399402,NM_001079811.1;GLB1,intron_variant,,ENST00000307377,NM_001135602.1;GLB1,intron_variant,,ENST00000440656,;GLB1,intron_variant,,ENST00000415454,;GLB1,intron_variant,,ENST00000436768,;GLB1,intron_variant,,ENST00000450835,;GLB1,intron_variant,,ENST00000498537,;GLB1,intron_variant,,ENST00000464355,;GLB1,intron_variant,,ENST00000485698,;GLB1,intron_variant,,ENST00000482097,;GLB1,intron_variant,,ENST00000438227,;	A	ENST00000342462	Transcript	missense_variant	751/3962	560/1362	187/453	P/L	cCc/cTc		1		-1	TMPPE	HGNC	HGNC:33865	protein_coding	YES	CCDS33732.1	ENSP00000343398	Q6ZT21		UPI000022BF97	NM_001039770.2	deleterious(0)		2/2		hmmpanther:PTHR31302,hmmpanther:PTHR31302:SF7																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	80	33093636	33093636	G	A	1	0	0	0	0	1	0	0	0	16714	1232	43	3		3	TMPPE	3	33093636	Missense_Mutation	SNP	G	C3N-01488_TP	2421422	33093636	165201923	131	26095											
XYLB	0	.	GRCh38	chr3	38362956	38362956	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactggatatcatcttggAgaagatgaaggcttcgggct	10	10	14	7	1	2	3	1	1	1	2	3	5	2	4	0	5	0	3	0	5	3	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.230A>G	p.Glu77Gly	p.E77G	ENST00000207870	4/19	77	67	10	64	64	0	strelka-varscan-mutect	XYLB,missense_variant,p.Glu77Gly,ENST00000207870,NM_005108.3;XYLB,upstream_gene_variant,,ENST00000487569,;XYLB,intron_variant,,ENST00000424034,;	G	ENST00000207870	Transcript	missense_variant	320/3664	230/1611	77/536	E/G	gAg/gGg		1		1	XYLB	HGNC	HGNC:12839	protein_coding	YES	CCDS2678.1	ENSP00000207870	O75191		UPI0000160544	NM_005108.3	tolerated(0.13)		4/19		hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF57,Gene3D:3.30.420.40,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	38362956	38362956	A	G	1	0	0	0	0	1	0	0	0	18021	304	11	5		5	XYLB	3	38362956	Missense_Mutation	SNP	A	C3N-01488_TP	5269320	38362956	159932603	132	26096											
ZNF35	0	.	GRCh38	chr3	44658882	44658882	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaagagagaaaagaaagaTttcagacaagtgatagtgaa	22	7	10	2	0	1	7	1	2	0	5	1	8	1	7	0	0	0	0	0	0	8	3	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.519T>C	p.=	p.D173D	ENST00000396056	4/4	164	155	9	277	277	0	strelka-varscan-mutect	ZNF35,synonymous_variant,p.=,ENST00000396056,NM_003420.3;ZNF35,3_prime_UTR_variant,,ENST00000296092,;ZNF35,3_prime_UTR_variant,,ENST00000453164,;ZNF35,downstream_gene_variant,,ENST00000415571,;ZNF35,downstream_gene_variant,,ENST00000399560,;RP11-944L7.4,intron_variant,,ENST00000457331,;	C	ENST00000396056	Transcript	synonymous_variant	754/2661	519/1584	173/527	D	gaT/gaC		1		1	ZNF35	HGNC	HGNC:13099	protein_coding	YES	CCDS2718.2	ENSP00000379368	P13682		UPI000020A5BF	NM_003420.3			4/4		hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF60																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	80	44658882	44658882	T	C	1	0	0	0	0	0	0	0	1	18434	1490	52	5		5	ZNF35	3	44658882	Silent	SNP	T	C3N-01488_TP	6295926	44658882	153636677	133	26097											
CELSR3	0	.	GRCh38	chr3	48656788	48656788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttggagtagcagaggtCgagctcggtctcgcaaaagt	9	9	16	7	3	1	1	0	0	1	1	4	3	1	2	0	4	2	5	0	4	3	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.4309G>T	p.Asp1437Tyr	p.D1437Y	ENST00000164024	2/35	80	68	12	95	94	1	strelka-varscan	CELSR3,missense_variant,p.Asp1437Tyr,ENST00000164024,NM_001407.2;	A	ENST00000164024	Transcript	missense_variant	4590/11956	4309/9939	1437/3312	D/Y	Gac/Tac		1		-1	CELSR3	HGNC	HGNC:3230	protein_coding	YES	CCDS2775.1	ENSP00000164024	Q9NYQ7		UPI00001AE5A6	NM_001407.2	deleterious(0)		2/35		Gene3D:2gy5A03,PROSITE_profiles:PS50026,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,SMART_domains:SM00179,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	48656788	48656788	C	A	1	0	0	0	0	1	0	0	0	2930	884	31	1		1	CELSR3	3	48656788	Missense_Mutation	SNP	C	C3N-01488_TP	3997906	48656788	149638771	134	26098											
LRTM1	0	.	GRCh38	chr3	54918732	54918732	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggttctcaggaggcctCaggaccacaccgtgggcaga	8	8	14	11	1	2	1	2	0	1	1	3	3	2	3	3	5	0	2	3	5	0	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.765G>T	p.=	p.L255L	ENST00000273286	3/3	142	122	20	221	220	1	strelka-varscan	LRTM1,synonymous_variant,p.=,ENST00000273286,NM_020678.3;LRTM1,synonymous_variant,p.=,ENST00000493075,NM_001304389.1;CACNA2D3,intron_variant,,ENST00000474759,NM_018398.2;CACNA2D3,intron_variant,,ENST00000288197,;CACNA2D3,intron_variant,,ENST00000415676,;CACNA2D3,intron_variant,,ENST00000490478,;CACNA2D3,intron_variant,,ENST00000620722,;CACNA2D3,intron_variant,,ENST00000471363,;	A	ENST00000273286	Transcript	synonymous_variant	928/1423	765/1038	255/345	L	ctG/ctT		1		-1	LRTM1	HGNC	HGNC:25023	protein_coding	YES	CCDS2876.1	ENSP00000273286	Q9HBL6		UPI000006CEEC	NM_020678.3			3/3		hmmpanther:PTHR24369:SF18,hmmpanther:PTHR24369																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	80	54918732	54918732	C	A	1	0	0	0	0	0	0	0	1	8950	813	29	2		2	LRTM1	3	54918732	Silent	SNP	C	C3N-01488_TP	6261944	54918732	143376827	135	26099											
ERC2	0	.	GRCh38	chr3	56434994	56434994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagattggtgattgttcttGcacttccatacatttttctt	7	19	6	9	0	2	2	0	1	2	1	3	2	3	2	2	1	2	2	2	1	1	9	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.14C>A	p.Ala5Glu	p.A5E	ENST00000288221	2/18	90	72	18	147	147	0	strelka-varscan	ERC2,missense_variant,p.Ala5Glu,ENST00000288221,NM_015576.1;ERC2,missense_variant,p.Ala5Glu,ENST00000612797,;ERC2,non_coding_transcript_exon_variant,,ENST00000472917,;ERC2,upstream_gene_variant,,ENST00000477381,;ERC2,missense_variant,p.Ala5Glu,ENST00000460849,;	T	ENST00000288221	Transcript	missense_variant	270/6138	14/2874	5/957	A/E	gCa/gAa		1		-1	ERC2	HGNC	HGNC:31922	protein_coding	YES	CCDS46851.1	ENSP00000288221	O15083		UPI00001C1572	NM_015576.1	deleterious_low_confidence(0)		2/18		hmmpanther:PTHR18861																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	56434994	56434994	G	T	1	0	0	0	0	1	0	0	0	5060	1319	46	2		2	ERC2	3	56434994	Missense_Mutation	SNP	G	C3N-01488_TP	1516262	56434994	141860565	136	26100											
CADPS	0	.	GRCh38	chr3	62753639	62753639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagctcagcacagtctcCttgctgaggccgtcaatctc	8	9	10	14	1	4	1	2	1	2	0	6	2	4	2	2	2	3	3	2	2	1	1			C3N-01488_TP	C3N-01488_NB	C	C																c.690G>T	p.Lys230Asn	p.K230N	ENST00000383710	3/30	330	286	44	430	430	0	strelka-varscan	CADPS,missense_variant,p.Lys230Asn,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Lys230Asn,ENST00000612439,;CADPS,missense_variant,p.Lys230Asn,ENST00000357948,NM_183393.2;CADPS,missense_variant,p.Lys230Asn,ENST00000283269,NM_183394.2;CADPS,missense_variant,p.Lys230Asn,ENST00000490353,;	A	ENST00000383710	Transcript	missense_variant	1040/5471	690/4062	230/1353	K/N	aaG/aaT	COSM4556410,COSM4556411	1		-1	CADPS	HGNC	HGNC:1426	protein_coding	YES	CCDS46858.1	ENSP00000373215	Q9ULU8		UPI00001C036A	NM_003716.3	deleterious(0.01)		3/30		hmmpanther:PTHR12166:SF6,hmmpanther:PTHR12166											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	80	62753639	62753639	C	A	1	0	0	0	0	1	0	0	0	2260	680	24	2		2	CADPS	3	62753639	Missense_Mutation	SNP	C	C3N-01488_TP	6318645	62753639	135541920	137	26101											
CNTN3	0	.	GRCh38	chr3	74299887	74299887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcccaggttatcacaagtTcagaccggcttccgcctcct	8	10	7	16	2	2	1	2	0	0	1	5	1	5	1	5	2	0	3	5	2	2	3	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.2147A>G	p.Glu716Gly	p.E716G	ENST00000263665	16/22	108	97	11	150	150	0	strelka-varscan	CNTN3,missense_variant,p.Glu716Gly,ENST00000263665,NM_020872.2;	C	ENST00000263665	Transcript	missense_variant	2175/4948	2147/3087	716/1028	E/G	gAa/gGa		1		-1	CNTN3	HGNC	HGNC:2173	protein_coding	YES	CCDS33790.1	ENSP00000263665	Q9P232		UPI00001A7974	NM_020872.2	deleterious(0)		16/22		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF695,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	80	74299887	74299887	T	C	1	0	0	0	0	1	0	0	0	3423	1783	62	5		5	CNTN3	3	74299887	Missense_Mutation	SNP	T	C3N-01488_TP	11546248	74299887	123995672	138	26102											
CGGBP1	0	.	GRCh38	chr3	88055641	88055641	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtgggatgttggcttcCaggcacattttcacaaagtc	10	12	10	9	0	2	0	2	0	0	0	4	1	3	1	1	3	0	3	1	3	2	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.336G>T	p.=	p.L112L	ENST00000398392	1/1	170	143	27	203	202	1	strelka-varscan	CGGBP1,synonymous_variant,p.=,ENST00000398392,;CGGBP1,synonymous_variant,p.=,ENST00000309534,NM_003663.3;CGGBP1,synonymous_variant,p.=,ENST00000482016,NM_001008390.1;CGGBP1,synonymous_variant,p.=,ENST00000462901,NM_001195308.1;ZNF654,upstream_gene_variant,,ENST00000636215,;CGGBP1,downstream_gene_variant,,ENST00000467332,;CGGBP1,downstream_gene_variant,,ENST00000474441,;ZNF654,upstream_gene_variant,,ENST00000473136,;	A	ENST00000398392	Transcript	synonymous_variant	1669/5298	336/504	112/167	L	ctG/ctT		1		-1	CGGBP1	HGNC	HGNC:1888	protein_coding	YES	CCDS43111.1	ENSP00000381429	Q9UFW8		UPI000006DF25				1/1		hmmpanther:PTHR32344:SF1,hmmpanther:PTHR32344																	LOW	1	SNV				1										PASS		.	.												A	2	1	80	88055641	88055641	C	A	1	0	0	0	0	0	0	0	1	3060	581	21	2		2	CGGBP1	3	88055641	Silent	SNP	C	C3N-01488_TP	13755754	88055641	110239918	139	26103											
PROS1	0	.	GRCh38	chr3	93886404	93886404	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttggtttccagcaatcCattttccggcttaaaaaggg	10	14	8	9	1	0	0	0	0	0	0	3	0	3	0	3	3	2	3	3	3	5	6	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1255G>T	p.Gly419Ter	p.G419*	ENST00000394236	11/15	204	180	24	323	321	2	strelka-varscan	PROS1,stop_gained,p.Gly419Ter,ENST00000394236,NM_000313.3;PROS1,stop_gained,p.Gly288Ter,ENST00000407433,;	A	ENST00000394236	Transcript	stop_gained	1572/3560	1255/2031	419/676	G/*	Gga/Tga		1		-1	PROS1	HGNC	HGNC:9456	protein_coding	YES	CCDS2923.1	ENSP00000377783	P07225	A0A0S2Z4K3	UPI00001323E8	NM_000313.3			11/15		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR24040,hmmpanther:PTHR24040:SF0,SMART_domains:SM00282,Superfamily_domains:SSF49899																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	80	93886404	93886404	C	A	1	0	0	0	0	0	1	0	0	12691	603	21	2		2	PROS1	3	93886404	Nonsense_Mutation	SNP	C	C3N-01488_TP	5830763	93886404	104409155	140	26104											
CBLB	0	.	GRCh38	chr3	105704087	105704087	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggcttagatgtgggatCtggagtgggtcaggctgtgg	6	10	20	5	0	2	1	1	0	1	1	2	3	2	3	0	7	0	3	0	7	1	1	rs779328589		C3N-01488_TP	C3N-01488_NB	C	C																c.1494G>T	p.Gln498His	p.Q498H	ENST00000264122	11/19	178	145	33	282	282	0	strelka-varscan	CBLB,missense_variant,p.Gln498His,ENST00000264122,NM_001321786.1,NM_001321788.1,NM_170662.3;CBLB,missense_variant,p.Gln498His,ENST00000403724,;CBLB,missense_variant,p.Gln498His,ENST00000405772,;CBLB,upstream_gene_variant,,ENST00000394030,;	A	ENST00000264122	Transcript	missense_variant	1816/6780	1494/2949	498/982	Q/H	caG/caT	rs779328589	1		-1	CBLB	HGNC	HGNC:1542	protein_coding	YES	CCDS2948.1	ENSP00000264122	Q13191		UPI00001AE89F	NM_001321786.1,NM_001321788.1,NM_170662.3	tolerated(0.35)		11/19		hmmpanther:PTHR23007:SF3,hmmpanther:PTHR23007																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	105704087	105704087	C	A	1	0	0	0	0	1	0	0	0	2402	912	32	2		2	CBLB	3	105704087	Missense_Mutation	SNP	C	C3N-01488_TP	11817683	105704087	92591472	141	26105											
ARHGAP31	0	.	GRCh38	chr3	119416141	119416141	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaccagaaggggttacActtaggaataaaatgaccat	16	8	9	8	0	1	2	1	1	0	1	1	3	1	3	2	3	1	1	2	3	6	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.4212A>T	p.=	p.T1404T	ENST00000264245	12/12	499	417	82	618	617	1	strelka-varscan	ARHGAP31,synonymous_variant,p.=,ENST00000264245,NM_020754.3;	T	ENST00000264245	Transcript	synonymous_variant	4744/9317	4212/4335	1404/1444	T	acA/acT		1		1	ARHGAP31	HGNC	HGNC:29216	protein_coding	YES	CCDS43135.1	ENSP00000264245	Q2M1Z3		UPI00001C1DFD	NM_020754.3			12/12		hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	80	119416141	119416141	A	T	1	0	0	0	0	0	0	0	1	1005	146	6	4		4	ARHGAP31	3	119416141	Silent	SNP	A	C3N-01488_TP	13712054	119416141	78879418	142	26106											
POLQ	0	.	GRCh38	chr3	121433006	121433006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgattgggcagaacatcCcttgcagttttctctttcgt	6	16	8	11	1	2	2	0	1	2	1	5	2	3	2	1	1	2	3	1	1	1	5			C3N-01488_TP	C3N-01488_NB	C	C																c.7571G>T	p.Gly2524Val	p.G2524V	ENST00000264233	29/30	275	260	15	365	365	0	strelka-varscan	POLQ,missense_variant,p.Gly2659Val,ENST00000621776,;POLQ,missense_variant,p.Gly2524Val,ENST00000264233,NM_199420.3;	A	ENST00000264233	Transcript	missense_variant	7700/8775	7571/7773	2524/2590	G/V	gGg/gTg	COSM5298938	1		-1	POLQ	HGNC	HGNC:9186	protein_coding	YES	CCDS33833.1	ENSP00000264233	O75417		UPI0000D61B5F	NM_199420.3	deleterious(0.01)		29/30		Pfam_domain:PF00476,SMART_domains:SM00482											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	80	121433006	121433006	C	A	1	0	0	0	0	1	0	0	0	12318	623	22	2		2	POLQ	3	121433006	Missense_Mutation	SNP	C	C3N-01488_TP	2016865	121433006	76862553	143	26107											
H1FOO	0	.	GRCh38	chr3	129547453	129547453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctcccggtgggacgcCgccaccccccggtgctacgc	4	4	13	20	5	0	0	0	0	0	0	1	1	1	1	7	3	3	2	7	3	1	1	rs773156190		C3N-01488_TP	C3N-01488_NB	C	C																c.151C>A	p.Arg51Ser	p.R51S	ENST00000324382	2/5	134	116	18	197	197	0	strelka-varscan	H1FOO,missense_variant,p.Arg51Ser,ENST00000324382,NM_153833.1;H1FOO,upstream_gene_variant,,ENST00000503977,NM_001308262.1;	A	ENST00000324382	Transcript	missense_variant	156/1067	151/1041	51/346	R/S	Cgc/Agc	rs773156190	1		1	H1FOO	HGNC	HGNC:18463	protein_coding	YES	CCDS3064.1	ENSP00000319799	Q8IZA3		UPI000007414E	NM_153833.1	deleterious(0.01)		2/5		Gene3D:1.10.10.10,PROSITE_profiles:PS51504,hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF42,SMART_domains:SM00526,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	129547453	129547453	C	A	1	0	0	0	0	1	0	0	0	6804	652	23	1		1	H1FOO	3	129547453	Missense_Mutation	SNP	C	C3N-01488_TP	8114447	129547453	68748106	144	26108											
SLCO2A1	0	.	GRCh38	chr3	133973717	133973717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagtgtgggagggtgaGgatgaaggcacctgcagcca	11	5	19	6	0	0	2	0	2	0	0	0	6	0	5	2	5	2	2	2	5	2	0			C3N-01488_TP	C3N-01488_NB	G	G																c.343C>A	p.Leu115Ile	p.L115I	ENST00000310926	3/14	295	248	47	331	331	0	strelka-varscan	SLCO2A1,missense_variant,p.Leu115Ile,ENST00000310926,NM_005630.2;SLCO2A1,missense_variant,p.Leu115Ile,ENST00000493729,;SLCO2A1,non_coding_transcript_exon_variant,,ENST00000478651,;SLCO2A1,missense_variant,p.Leu115Ile,ENST00000481359,;SLCO2A1,non_coding_transcript_exon_variant,,ENST00000462770,;SLCO2A1,non_coding_transcript_exon_variant,,ENST00000464676,;	T	ENST00000310926	Transcript	missense_variant	617/4223	343/1932	115/643	L/I	Ctc/Atc	COSM1038605	1		-1	SLCO2A1	HGNC	HGNC:10955	protein_coding	YES	CCDS3084.1	ENSP00000311291	Q92959		UPI000013F0AD	NM_005630.2	tolerated(0.12)		3/14		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF14,TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	80	133973717	133973717	G	T	1	0	0	0	0	1	0	0	0	15013	1000	35	2		2	SLCO2A1	3	133973717	Missense_Mutation	SNP	G	C3N-01488_TP	4426264	133973717	64321842	145	26109											
ZBTB38	0	.	GRCh38	chr3	141444372	141444372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggagaggaggcattgaaaAtggatcttgacaataacttt	14	10	13	4	0	1	3	0	2	1	1	1	6	1	5	0	5	1	1	0	5	4	4	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1984A>G	p.Met662Val	p.M662V	ENST00000514251	4/4	140	112	28	241	241	0	strelka-varscan	ZBTB38,missense_variant,p.Met662Val,ENST00000514251,;ZBTB38,missense_variant,p.Met662Val,ENST00000637056,NM_001080412.2;ZBTB38,missense_variant,p.Met662Val,ENST00000441582,;ZBTB38,missense_variant,p.Met662Val,ENST00000321464,;ZBTB38,missense_variant,p.Met662Val,ENST00000636289,;ZBTB38,missense_variant,p.Met662Val,ENST00000509883,;ZBTB38,downstream_gene_variant,,ENST00000509842,;ZBTB38,downstream_gene_variant,,ENST00000510726,;ZBTB38,downstream_gene_variant,,ENST00000509813,;ZBTB38,downstream_gene_variant,,ENST00000513570,;ZBTB38,downstream_gene_variant,,ENST00000510338,;ZBTB38,downstream_gene_variant,,ENST00000507722,;ZBTB38,downstream_gene_variant,,ENST00000513258,;ZBTB38,downstream_gene_variant,,ENST00000504673,;ZBTB38,downstream_gene_variant,,ENST00000503809,;ZBTB38,upstream_gene_variant,,ENST00000512769,;	G	ENST00000514251	Transcript	missense_variant	2263/7683	1984/3588	662/1195	M/V	Atg/Gtg		1		1	ZBTB38	HGNC	HGNC:26636	protein_coding	YES	CCDS43157.1	ENSP00000426387	Q8NAP3		UPI000020A364		tolerated(1)		4/4		hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF267																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	80	141444372	141444372	A	G	1	0	0	0	0	1	0	0	0	18108	101	4	5		5	ZBTB38	3	141444372	Missense_Mutation	SNP	A	C3N-01488_TP	7470655	141444372	56851187	146	26110											
LEKR1	0	.	GRCh38	chr3	157045448	157045448	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagctcagtaagcttcgtGgaagtttaccattctcaccg	9	12	10	10	2	2	0	2	0	1	0	4	2	2	2	2	2	3	4	2	2	3	5	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.865G>T	p.Gly289Ter	p.G289*	ENST00000470811	14/14	213	191	22	309	308	1	strelka-varscan	LEKR1,stop_gained,p.Gly289Ter,ENST00000470811,;LEKR1,stop_gained,p.Gly593Ter,ENST00000356539,NM_001004316.2;	T	ENST00000470811	Transcript	stop_gained	2200/2881	865/1167	289/388	G/*	Gga/Tga		1		1	LEKR1	HGNC	HGNC:33765	protein_coding			ENSP00000418214	Q6ZMV7		UPI0000425F3D				14/14		hmmpanther:PTHR34251																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	80	157045448	157045448	G	T	1	0	0	0	0	0	1	0	0	8625	1349	47	2		2	LEKR1	3	157045448	Nonsense_Mutation	SNP	G	C3N-01488_TP	15601076	157045448	41250111	147	26111											
SI	0	.	GRCh38	chr3	165049865	165049865	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaataaagctggaaactTcattcatgtcctgaatggat	13	13	8	7	0	2	2	2	2	0	0	3	4	3	4	1	2	2	1	1	2	5	4	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.1523A>T	p.Glu508Val	p.E508V	ENST00000264382	14/48	175	139	36	334	334	0	strelka-varscan	SI,missense_variant,p.Glu508Val,ENST00000264382,NM_001041.3;	A	ENST00000264382	Transcript	missense_variant	1586/6011	1523/5484	508/1827	E/V	gAa/gTa		1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	deleterious(0)		14/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66,PROSITE_patterns:PS00129,Pfam_domain:PF01055,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	165049865	165049865	T	A	1	0	0	0	0	1	0	0	0	14561	1783	62	4		4	SI	3	165049865	Missense_Mutation	SNP	T	C3N-01488_TP	8004417	165049865	33245694	148	26112											
SI	0	.	GRCh38	chr3	165065407	165065407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtactggtcagagtacaCtaagggaccaatgctggtgt	12	10	12	7	0	1	1	1	0	0	1	1	2	1	2	1	3	3	3	1	3	5	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.661G>T	p.Val221Leu	p.V221L	ENST00000264382	7/48	165	141	24	270	270	0	strelka-varscan	SI,missense_variant,p.Val221Leu,ENST00000264382,NM_001041.3;SI,downstream_gene_variant,,ENST00000476593,;	A	ENST00000264382	Transcript	missense_variant	724/6011	661/5484	221/1827	V/L	Gtg/Ttg		1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	tolerated(0.77)		7/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66,Pfam_domain:PF16863,Superfamily_domains:SSF74650																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	165065407	165065407	C	A	1	0	0	0	0	1	0	0	0	14561	565	20	2		2	SI	3	165065407	Missense_Mutation	SNP	C	C3N-01488_TP	15542	165065407	33230152	149	26113											
SI	0	.	GRCh38	chr3	165067382	165067382	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taataacttggatgctaaatGggttttgggcaaccttcaca	12	13	9	7	0	1	0	1	0	0	0	1	1	1	1	1	3	3	3	1	3	5	7	rs142923909		C3N-01488_TP	C3N-01488_NB	G	G																c.593C>G	p.Pro198Arg	p.P198R	ENST00000264382	6/48	232	178	54	365	365	0	strelka-varscan	SI,missense_variant,p.Pro198Arg,ENST00000264382,NM_001041.3;SI,downstream_gene_variant,,ENST00000476593,;	C	ENST00000264382	Transcript	missense_variant	656/6011	593/5484	198/1827	P/R	cCa/cGa	rs142923909	1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	deleterious(0)		6/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66,Pfam_domain:PF16863,Superfamily_domains:SSF74650																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	80	165067382	165067382	G	C	1	0	0	0	0	1	0	0	0	14561	1348	47	4		4	SI	3	165067382	Missense_Mutation	SNP	G	C3N-01488_TP	1975	165067382	33228177	150	26114											
ZBBX	0	.	GRCh38	chr3	167333965	167333965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaacatccaatacattGaataatatttgagattttgc	14	14	7	6	0	0	2	0	2	0	1	1	3	1	2	1	1	3	1	1	1	6	7	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.549C>A	p.Phe183Leu	p.F183L	ENST00000455345	9/21	54	42	12	108	108	0	strelka-varscan	ZBBX,missense_variant,p.Phe183Leu,ENST00000392766,NM_024687.3;ZBBX,missense_variant,p.Phe183Leu,ENST00000455345,NM_001199201.1;ZBBX,missense_variant,p.Phe183Leu,ENST00000307529,;ZBBX,missense_variant,p.Phe154Leu,ENST00000392767,;ZBBX,missense_variant,p.Phe154Leu,ENST00000392764,NM_001199202.1;ZBBX,intron_variant,,ENST00000469220,;	T	ENST00000455345	Transcript	missense_variant	833/3185	549/2520	183/839	F/L	ttC/ttA		1		-1	ZBBX	HGNC	HGNC:26245	protein_coding	YES	CCDS56296.1	ENSP00000390232	A8MT70		UPI000020A746	NM_001199201.1	tolerated(0.06)		9/21		hmmpanther:PTHR28634																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	167333965	167333965	G	T	1	0	0	0	0	1	0	0	0	18078	1281	45	2		2	ZBBX	3	167333965	Missense_Mutation	SNP	G	C3N-01488_TP	2266583	167333965	30961594	151	26115											
MAP3K13	0	.	GRCh38	chr3	185443564	185443564	+	Frame_Shift_Del	DEL	C	C	-																															tcgattgctagtagactggtCcacaggaattgcaagtggaa																								novel		C3N-01488_TP	C3N-01488_NB	C	C																c.780delC	p.Thr261GlnfsTer7	p.T261Qfs*7	ENST00000265026	4/14	152	129	23	208	208	0	sindel-varindel-pindel	MAP3K13,frameshift_variant,p.Thr261GlnfsTer7,ENST00000265026,NM_004721.4;MAP3K13,frameshift_variant,p.Thr261GlnfsTer7,ENST00000424227,NM_001242314.1;MAP3K13,frameshift_variant,p.Thr117GlnfsTer7,ENST00000443863,;MAP3K13,frameshift_variant,p.Thr54GlnfsTer7,ENST00000446828,NM_001242317.1;MAP3K13,intron_variant,,ENST00000420577,;MAP3K13,3_prime_UTR_variant,,ENST00000433092,;MAP3K13,3_prime_UTR_variant,,ENST00000439882,;MAP3K13,non_coding_transcript_exon_variant,,ENST00000477582,;MAP3K13,intron_variant,,ENST00000438053,;	-	ENST00000265026	Transcript	frameshift_variant	1113/9876	779/2901	260/966	S/X	tCc/tc		1		1	MAP3K13	HGNC	HGNC:6852	protein_coding	YES	CCDS3270.1	ENSP00000265026	O43283		UPI000006CF91	NM_004721.4			4/14		PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF336,PIRSF_domain:PIRSF038165,Pfam_domain:PF07714,PIRSF_domain:PIRSF500742,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	80	185443564	185443564	C	-	1	0	1	0	1	0	0	0	0	9169	855	30	0		0	MAP3K13	3	185443564	Frame_Shift_Del	DEL	C	C3N-01488_TP	18109599	185443564	12851995	152	26116											
MASP1	0	.	GRCh38	chr3	187251663	187251663	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtagcctgtgtcacagcTgacgagcacttggtctttga	7	14	11	9	1	2	2	1	2	1	0	2	3	2	2	1	1	3	3	1	1	1	4	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.982A>T	p.Ser328Cys	p.S328C	ENST00000296280	7/11	315	247	68	405	405	0	strelka-varscan	MASP1,missense_variant,p.Ser328Cys,ENST00000337774,NM_001879.5;MASP1,missense_variant,p.Ser328Cys,ENST00000296280,NM_139125.3;MASP1,missense_variant,p.Ser215Cys,ENST00000392472,;MASP1,missense_variant,p.Ser328Cys,ENST00000169293,NM_001031849.2;MASP1,missense_variant,p.Ser302Cys,ENST00000392470,;MASP1,intron_variant,,ENST00000495249,;MASP1,non_coding_transcript_exon_variant,,ENST00000483719,;MASP1,downstream_gene_variant,,ENST00000460839,;	A	ENST00000296280	Transcript	missense_variant	1208/4015	982/2187	328/728	S/C	Agc/Tgc		1		-1	MASP1	HGNC	HGNC:6901	protein_coding	YES	CCDS33908.1	ENSP00000296280	P48740		UPI000007256E	NM_139125.3	deleterious(0.02)		7/11		Gene3D:2.10.70.10,Pfam_domain:PF00084,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS50923,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	187251663	187251663	T	A	1	0	0	0	0	1	0	0	0	9248	1580	55	4		4	MASP1	3	187251663	Missense_Mutation	SNP	T	C3N-01488_TP	1808099	187251663	11043896	153	26117											
ACOX3	0	.	GRCh38	chr4	8389628	8389628	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgtggacctggtgtgcCaggagacccagcaaatagtt	10	8	12	11	1	1	1	1	0	0	1	1	3	1	2	4	3	2	2	4	3	2	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1407G>A	p.=	p.L469L	ENST00000356406	12/18	185	146	39	228	228	0	strelka-varscan-mutect	ACOX3,synonymous_variant,p.=,ENST00000356406,NM_003501.2;ACOX3,synonymous_variant,p.=,ENST00000413009,NM_001101667.1;ACOX3,synonymous_variant,p.=,ENST00000503233,;RNA5SP152,upstream_gene_variant,,ENST00000365184,;ACOX3,non_coding_transcript_exon_variant,,ENST00000508302,;ACOX3,non_coding_transcript_exon_variant,,ENST00000510365,;	T	ENST00000356406	Transcript	synonymous_variant	1485/2860	1407/2103	469/700	L	ctG/ctA		1		-1	ACOX3	HGNC	HGNC:121	protein_coding	YES	CCDS3401.1	ENSP00000348775	O15254		UPI000013EEE2	NM_003501.2			12/18		hmmpanther:PTHR10909:SF315,hmmpanther:PTHR10909,PIRSF_domain:PIRSF000168,Gene3D:1.20.140.10,Superfamily_domains:SSF47203																	LOW	1	SNV	1			1										PASS		rs1028393578	.												T	2	4	80	8389628	8389628	C	T	1	0	0	0	0	0	0	0	1	202	581	21	3		3	ACOX3	4	8389628	Silent	SNP	C	C3N-01488_TP		8389628	181824927	154	26118											
EPHA5	0	.	GRCh38	chr4	65490432	65490432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgggctcctgggctcaaGtcggacactccattcactgc	6	9	11	15	2	2	0	2	0	0	0	5	1	4	1	3	3	2	2	3	3	1	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1347C>A	p.Asp449Glu	p.D449E	ENST00000622150	5/18	196	156	40	273	273	0	strelka-varscan	EPHA5,missense_variant,p.Asp449Glu,ENST00000622150,NM_001281765.1;EPHA5,missense_variant,p.Asp449Glu,ENST00000613740,NM_001281766.1;EPHA5,missense_variant,p.Asp449Glu,ENST00000273854,NM_004439.6;EPHA5,missense_variant,p.Asp449Glu,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Asp449Glu,ENST00000354839,NM_182472.3;EPHA5,intron_variant,,ENST00000432638,;	T	ENST00000622150	Transcript	missense_variant	2100/8421	1347/3117	449/1038	D/E	gaC/gaA		1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1	tolerated(0.65)		5/18		Gene3D:2.60.40.10,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	65490432	65490432	G	T	1	0	0	0	0	1	0	0	0	5017	1020	36	2		2	EPHA5	4	65490432	Missense_Mutation	SNP	G	C3N-01488_TP	57100804	65490432	124724123	155	26119											
STAP1	0	.	GRCh38	chr4	67581339	67581339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaacgtgtcactcctacctgGgcaagtaattaaactgcatg	13	10	8	10	1	1	0	1	0	0	0	2	0	2	0	2	1	4	3	2	1	6	3	rs202106508		C3N-01488_TP	C3N-01488_NB	G	G																c.398G>T	p.Gly133Val	p.G133V	ENST00000265404	5/9	128	107	21	188	188	0	strelka-varscan	STAP1,missense_variant,p.Gly133Val,ENST00000265404,NM_012108.2;STAP1,missense_variant,p.Gly133Val,ENST00000396225,NM_001317769.1;	T	ENST00000265404	Transcript	missense_variant	480/1511	398/888	133/295	G/V	gGg/gTg	rs202106508	1		1	STAP1	HGNC	HGNC:24133	protein_coding	YES	CCDS3515.1	ENSP00000265404	Q9ULZ2	A0A024RD91	UPI0000073E6C	NM_012108.2	deleterious(0)		5/9		hmmpanther:PTHR16186,hmmpanther:PTHR16186:SF10,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	67581339	67581339	G	T	1	0	0	0	0	1	0	0	0	15627	1232	43	2		2	STAP1	4	67581339	Missense_Mutation	SNP	G	C3N-01488_TP	2090907	67581339	122633216	156	26120											
CSN2	0	.	GRCh38	chr4	69957418	69957418	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacttgctgggggataggCaggactttgggctgaggaac	9	8	16	8	0	0	1	0	1	0	0	0	4	0	4	1	6	2	3	1	6	2	3	rs202159563		C3N-01488_TP	C3N-01488_NB	C	C																c.531G>T	p.=	p.L177L	ENST00000353151	5/7	101	80	21	180	180	0	strelka-varscan	CSN2,synonymous_variant,p.=,ENST00000353151,NM_001302770.1,NM_001891.3;	A	ENST00000353151	Transcript	synonymous_variant	543/1066	531/681	177/226	L	ctG/ctT	rs202159563	1		-1	CSN2	HGNC	HGNC:2447	protein_coding	YES	CCDS3532.1	ENSP00000341030	P05814	W5RWE1	UPI0000126FDB	NM_001302770.1,NM_001891.3			5/7		hmmpanther:PTHR11500:SF0,hmmpanther:PTHR11500,Pfam_domain:PF00363,PIRSF_domain:PIRSF002372																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	80	69957418	69957418	C	A	1	0	0	0	0	0	0	0	1	3748	697	25	2		2	CSN2	4	69957418	Silent	SNP	C	C3N-01488_TP	2376079	69957418	120257137	157	26121											
OPRPN	0	.	GRCh38	chr4	70409741	70409741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctatttaccttcctatctCtaaccctgagccccaaataa	11	13	3	14	0	1	1	0	1	1	0	3	1	2	1	5	0	4	1	5	0	6	7	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.413C>T	p.Ser138Phe	p.S138F	ENST00000399575	3/3	160	136	24	252	252	0	strelka-varscan	OPRPN,missense_variant,p.Ser138Phe,ENST00000399575,NM_021225.4;OPRPN,non_coding_transcript_exon_variant,,ENST00000514338,;OPRPN,non_coding_transcript_exon_variant,,ENST00000505023,;	T	ENST00000399575	Transcript	missense_variant	587/1040	413/747	138/248	S/F	tCt/tTt		1		1	OPRPN	HGNC	HGNC:17279	protein_coding	YES	CCDS43235.1	ENSP00000382485	Q99935		UPI000020BE52	NM_021225.4	tolerated_low_confidence(0.91)		3/3		hmmpanther:PTHR14179,hmmpanther:PTHR14179:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	70409741	70409741	C	T	1	0	0	0	0	1	0	0	0	10963	913	32	3		3	OPRPN	4	70409741	Missense_Mutation	SNP	C	C3N-01488_TP	452323	70409741	119804814	158	26122											
C4orf22	0	.	GRCh38	chr4	80870026	80870026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgacagaaattctcatGggcaagagatatcaggatac	14	10	10	7	1	2	3	2	1	1	2	4	5	2	4	0	2	1	1	0	2	4	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.418G>T	p.Gly140Trp	p.G140W	ENST00000508675	5/7	138	130	8	146	146	0	strelka-varscan	C4orf22,missense_variant,p.Gly123Trp,ENST00000358105,NM_152770.2;C4orf22,missense_variant,p.Gly140Trp,ENST00000508675,NM_001206997.1;C4orf22,upstream_gene_variant,,ENST00000508314,;C4orf22,3_prime_UTR_variant,,ENST00000513920,;	T	ENST00000508675	Transcript	missense_variant	418/753	418/753	140/250	G/W	Ggg/Tgg		1		1	C4orf22	HGNC	HGNC:28554	protein_coding	YES	CCDS56336.1	ENSP00000425786	Q6V702		UPI0000D61589	NM_001206997.1	deleterious(0)		5/7		Pfam_domain:PF14713,hmmpanther:PTHR33588,hmmpanther:PTHR33588:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	80870026	80870026	G	T	1	0	0	0	0	1	0	0	0	2080	1348	47	2		2	C4orf22	4	80870026	Missense_Mutation	SNP	G	C3N-01488_TP	10460285	80870026	109344529	159	26123											
RASGEF1B	0	.	GRCh38	chr4	81456710	81456710	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtttctcatcattctttcatCccgaaaatcatagggaaatg	12	14	6	9	1	5	0	4	0	2	0	7	2	6	1	1	1	0	1	1	1	4	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.379G>C	p.Asp127His	p.D127H	ENST00000264400	4/14	243	205	38	372	372	0	strelka-varscan	RASGEF1B,missense_variant,p.Asp127His,ENST00000436139,;RASGEF1B,missense_variant,p.Asp127His,ENST00000613784,;RASGEF1B,missense_variant,p.Asp127His,ENST00000509081,NM_001300735.1;RASGEF1B,missense_variant,p.Asp214His,ENST00000638048,;RASGEF1B,missense_variant,p.Asp127His,ENST00000264400,NM_152545.2;RASGEF1B,missense_variant,p.Asp86His,ENST00000335927,NM_001300736.1;RASGEF1B,intron_variant,,ENST00000504863,;RASGEF1B,non_coding_transcript_exon_variant,,ENST00000514889,;RASGEF1B,downstream_gene_variant,,ENST00000507538,;RASGEF1B,downstream_gene_variant,,ENST00000512716,;	G	ENST00000264400	Transcript	missense_variant	531/2277	379/1422	127/473	D/H	Gat/Cat		1		-1	RASGEF1B	HGNC	HGNC:24881	protein_coding	YES	CCDS34022.1	ENSP00000264400	Q0VAM2		UPI0000044685	NM_152545.2	deleterious(0)		4/14		PROSITE_profiles:PS50212,hmmpanther:PTHR23113:SF197,hmmpanther:PTHR23113,Gene3D:2ii0A01,Pfam_domain:PF00618,SMART_domains:SM00229,Superfamily_domains:0041591																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	80	81456710	81456710	C	G	1	0	0	0	0	1	0	0	0	13231	855	30	4		4	RASGEF1B	4	81456710	Missense_Mutation	SNP	C	C3N-01488_TP	586684	81456710	108757845	160	26124											
RP11-766F14.2	0	.	GRCh38	chr4	99651090	99651090	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagactgtcccttctggggAggaagaattcaagactctgc	11	9	11	10	0	3	3	1	0	2	3	4	5	4	5	1	3	1	0	1	3	4	2	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.3559T>A	p.Ser1187Thr	p.S1187T	ENST00000511828	1/2	240	219	21	368	368	0	strelka-varscan	RP11-766F14.2,missense_variant,p.Ser1187Thr,ENST00000511828,;	T	ENST00000511828	Transcript	missense_variant	3559/10086	3559/5382	1187/1793	S/T	Tcc/Acc		1		-1	RP11-766F14.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000427555		D6RIA3	UPI0001D3B6FE		tolerated(0.08)		1/2																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	99651090	99651090	A	T	1	0	0	0	0	1	0	0	0	13762	304	11	4		4	RP11-766F14.2	4	99651090	Missense_Mutation	SNP	A	C3N-01488_TP	18194380	99651090	90563465	161	26125											
LRIT3	0	.	GRCh38	chr4	109870111	109870111	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaagaaatttaaaggtGgcaaagaatggaagtaagct	19	7	13	2	0	0	2	0	0	0	2	0	4	0	4	0	4	1	3	0	4	9	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1362G>T	p.=	p.V454V	ENST00000594814	4/4	141	124	17	293	292	1	strelka-varscan	LRIT3,synonymous_variant,p.=,ENST00000327908,;LRIT3,synonymous_variant,p.=,ENST00000594814,NM_198506.4;	T	ENST00000594814	Transcript	synonymous_variant	1362/3566	1362/2040	454/679	V	gtG/gtT		1		1	LRIT3	HGNC	HGNC:24783	protein_coding	YES	CCDS3688.3	ENSP00000469759	Q3SXY7		UPI0000F07E94	NM_198506.4			4/4		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF236																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	80	109870111	109870111	G	T	1	0	0	0	0	0	0	0	1	8844	1335	47	2		2	LRIT3	4	109870111	Silent	SNP	G	C3N-01488_TP	10219021	109870111	80344444	162	26126											
ANK2	0	.	GRCh38	chr4	113199086	113199086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttcttgttaaggaaggaGccaatattaatgcacagtct	14	12	9	6	0	2	0	0	0	2	0	2	2	2	2	1	2	2	3	1	2	6	5	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.361G>T	p.Ala121Ser	p.A121S	ENST00000357077	4/46	288	243	45	394	393	1	strelka-varscan	ANK2,missense_variant,p.Ala121Ser,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Ala121Ser,ENST00000264366,;ANK2,missense_variant,p.Ala100Ser,ENST00000506722,NM_001127493.1;ANK2,missense_variant,p.Ala121Ser,ENST00000394537,NM_020977.3;ANK2,missense_variant,p.Ala136Ser,ENST00000504454,;ANK2,missense_variant,p.Ala100Ser,ENST00000503423,;ANK2,missense_variant,p.Ala93Ser,ENST00000634436,;ANK2,missense_variant,p.Ala100Ser,ENST00000503271,;ANK2,missense_variant,p.Ala136Ser,ENST00000508613,;ANK2,5_prime_UTR_variant,,ENST00000515034,;ANK2,downstream_gene_variant,,ENST00000511380,;	T	ENST00000357077	Transcript	missense_variant	414/14196	361/11874	121/3957	A/S	Gcc/Tcc		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4	deleterious(0.03)		4/46		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	113199086	113199086	G	T	1	0	0	0	0	1	0	0	0	721	971	34	2		2	ANK2	4	113199086	Missense_Mutation	SNP	G	C3N-01488_TP	3328975	113199086	77015469	163	26127											
ANK2	0	.	GRCh38	chr4	113343130	113343130	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagaaaatagacttccTctatttgtcaaggtaatata	16	14	5	6	0	3	2	2	0	1	2	4	2	4	2	1	1	0	1	1	1	9	8			C3N-01488_TP	C3N-01488_NB	T	T																c.4236T>A	p.=	p.P1412P	ENST00000357077	34/46	227	183	44	395	395	0	strelka-varscan	ANK2,synonymous_variant,p.=,ENST00000357077,NM_001148.4;ANK2,synonymous_variant,p.=,ENST00000264366,;ANK2,synonymous_variant,p.=,ENST00000506722,NM_001127493.1;ANK2,synonymous_variant,p.=,ENST00000394537,NM_020977.3;ANK2,synonymous_variant,p.=,ENST00000504454,;ANK2,synonymous_variant,p.=,ENST00000514960,;ANK2,synonymous_variant,p.=,ENST00000503423,;ANK2,synonymous_variant,p.=,ENST00000509550,;ANK2,synonymous_variant,p.=,ENST00000510275,;ANK2,intron_variant,,ENST00000504415,;ANK2,downstream_gene_variant,,ENST00000504887,;ANK2,upstream_gene_variant,,ENST00000508007,;	A	ENST00000357077	Transcript	synonymous_variant	4289/14196	4236/11874	1412/3957	P	ccT/ccA	COSM5167337,COSM5167338	1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4			34/46		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	80	113343130	113343130	T	A	1	0	0	0	0	0	0	0	1	721	1538	54	4		4	ANK2	4	113343130	Silent	SNP	T	C3N-01488_TP	144044	113343130	76871425	164	26128											
TRPC3	0	.	GRCh38	chr4	121932696	121932696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcctctacgatgcgcaCgtagcccttgctgatggcga	7	9	13	12	4	1	1	0	1	1	0	1	4	1	1	2	2	4	3	2	2	2	3	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.562G>T	p.Val188Leu	p.V188L	ENST00000379645	2/12	104	91	13	179	179	0	strelka-varscan	TRPC3,missense_variant,p.Val115Leu,ENST00000264811,NM_003305.2;TRPC3,missense_variant,p.Val188Leu,ENST00000379645,NM_001130698.1;TRPC3,missense_variant,p.Val115Leu,ENST00000513531,;TRPC3,downstream_gene_variant,,ENST00000502968,;TRPC3,missense_variant,p.Val115Leu,ENST00000506449,;	A	ENST00000379645	Transcript	missense_variant	636/3548	562/2766	188/921	V/L	Gtg/Ttg		1		-1	TRPC3	HGNC	HGNC:12335	protein_coding	YES	CCDS47130.1	ENSP00000368966	Q13507		UPI00004C6F61	NM_001130698.1	tolerated(0.13)		2/12		hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	121932696	121932696	C	A	1	0	0	0	0	1	0	0	0	17084	536	19	1		1	TRPC3	4	121932696	Missense_Mutation	SNP	C	C3N-01488_TP	8589566	121932696	68281859	165	26129											
FAM198B	0	.	GRCh38	chr4	158127552	158127552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acactttatcaagaaacagaGactgaagaagtttctgccgt	15	10	8	8	1	2	4	1	1	1	3	2	5	2	4	1	0	2	1	1	0	5	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1439C>G	p.Ser480Cys	p.S480C	ENST00000393807	6/6	241	220	21	352	352	0	strelka-varscan	FAM198B,missense_variant,p.Ser472Cys,ENST00000296530,NM_016613.6;FAM198B,missense_variant,p.Ser472Cys,ENST00000585682,NM_001128424.1;FAM198B,missense_variant,p.Ser480Cys,ENST00000393807,NM_001031700.2;FAM198B,missense_variant,p.Ser178Cys,ENST00000590648,;FAM198B,missense_variant,p.Ser106Cys,ENST00000592586,;FAM198B,downstream_gene_variant,,ENST00000593260,;FAM198B,downstream_gene_variant,,ENST00000589306,;	C	ENST00000393807	Transcript	missense_variant	1846/4544	1439/1584	480/527	S/C	tCt/tGt		1		-1	FAM198B	HGNC	HGNC:25312	protein_coding	YES	CCDS34087.1	ENSP00000377396	Q6UWH4		UPI00003672A2	NM_001031700.2	deleterious(0)		6/6		Pfam_domain:PF15051,hmmpanther:PTHR15905,hmmpanther:PTHR15905:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	80	158127552	158127552	G	C	1	0	0	0	0	1	0	0	0	5376	942	33	4		4	FAM198B	4	158127552	Missense_Mutation	SNP	G	C3N-01488_TP	36194856	158127552	32087003	166	26130											
RAPGEF2	0	.	GRCh38	chr4	159343116	159343116	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatatcgtaatgttctcaAtagtcaaaatctacaacctc	17	12	3	9	1	3	0	2	0	2	0	6	0	3	0	1	0	2	2	1	0	10	5	rs766326195		C3N-01488_TP	C3N-01488_NB	A	A																c.2573A>G	p.Asn858Ser	p.N858S	ENST00000264431	15/24	304	255	49	453	453	0	strelka-varscan	RAPGEF2,missense_variant,p.Asn858Ser,ENST00000264431,NM_014247.2;RAPGEF2,upstream_gene_variant,,ENST00000510253,;RAPGEF2,upstream_gene_variant,,ENST00000502485,;	G	ENST00000264431	Transcript	missense_variant	2992/6949	2573/4500	858/1499	N/S	aAt/aGt	rs766326195	1		1	RAPGEF2	HGNC	HGNC:16854	protein_coding	YES	CCDS43277.1	ENSP00000264431	Q9Y4G8		UPI0000033783	NM_014247.2	tolerated(1)		15/24		PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF217,Gene3D:2ii0A02,Pfam_domain:PF00617,SMART_domains:SM00147,Superfamily_domains:0041591																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	159343116	159343116	A	G	1	0	0	0	0	1	0	0	0	13203	101	4	5		5	RAPGEF2	4	159343116	Missense_Mutation	SNP	A	C3N-01488_TP	1215564	159343116	30871439	167	26131											
GALNTL6	0	.	GRCh38	chr4	172052519	172052519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaccacggagtgcatgaGctggtttaccaggtaaccgg	10	7	14	10	2	0	2	0	1	0	1	0	3	0	3	3	4	4	5	3	4	2	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.75G>T	p.Glu25Asp	p.E25D	ENST00000508122	1/12	142	118	24	181	181	0	strelka-varscan	GALNTL6,missense_variant,p.Glu25Asp,ENST00000508122,;GALNTL6,intron_variant,,ENST00000506823,NM_001034845.2;	T	ENST00000508122	Transcript	missense_variant	75/1755	75/1755	25/584	E/D	gaG/gaT		1		1	GALNTL6	HGNC	HGNC:33844	protein_coding			ENSP00000423827	Q49A17		UPI0000695D6D		tolerated_low_confidence(0.44)		1/12		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF40																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	80	172052519	172052519	G	T	1	0	0	0	0	1	0	0	0	6093	962	34	2		2	GALNTL6	4	172052519	Missense_Mutation	SNP	G	C3N-01488_TP	12709403	172052519	18162036	168	26132											
TENM3	0	.	GRCh38	chr4	182775075	182775075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgactttgcctggcgagaaCggtcaaaacttggtggaatg	11	10	13	7	2	1	2	1	1	0	1	1	4	1	3	1	4	3	0	1	4	4	2			C3N-01488_TP	C3N-01488_NB	C	C																c.5226C>A	p.Asn1742Lys	p.N1742K	ENST00000511685	24/28	402	340	62	443	441	2	strelka-varscan	TENM3,missense_variant,p.Asn1742Lys,ENST00000511685,NM_001080477.2;RP11-18D7.2,upstream_gene_variant,,ENST00000513255,;	A	ENST00000511685	Transcript	missense_variant	5349/10896	5226/8100	1742/2699	N/K	aaC/aaA	COSM3337961	1		1	TENM3	HGNC	HGNC:29944	protein_coding	YES	CCDS47165.1	ENSP00000424226	Q9P273	A0A140VJW8	UPI00006C0820	NM_001080477.2	tolerated(0.11)		24/28		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10											1						MODERATE		SNV	5		1	1										PASS		.	.												A	3	1	80	182775075	182775075	C	A	1	0	0	0	0	1	0	0	0	16173	535	19	1		1	TENM3	4	182775075	Missense_Mutation	SNP	C	C3N-01488_TP	10722556	182775075	7439480	169	26133											
CYP4V2	0	.	GRCh38	chr4	186197533	186197533	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcacccatattttatagAaacagctatggggaagaata	15	12	7	7	0	1	2	1	0	1	2	2	3	1	3	1	2	2	1	1	2	8	7	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.605A>T	p.Glu202Val	p.E202V	ENST00000378802	5/11	336	279	57	487	487	0	strelka-varscan	CYP4V2,missense_variant,p.Glu202Val,ENST00000378802,NM_207352.3;CYP4V2,non_coding_transcript_exon_variant,,ENST00000507209,;	T	ENST00000378802	Transcript	missense_variant,splice_region_variant	909/2042	605/1578	202/525	E/V	gAa/gTa		1		1	CYP4V2	HGNC	HGNC:23198	protein_coding	YES	CCDS34119.1	ENSP00000368079	Q6ZWL3		UPI00002372FE	NM_207352.3	deleterious(0)		5/11		hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF56,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	186197533	186197533	A	T	1	0	0	0	0	1	0	0	0	3995	260	9	4		4	CYP4V2	4	186197533	Missense_Mutation	SNP	A	C3N-01488_TP	3422458	186197533	4017022	170	26134											
FAT1	0	.	GRCh38	chr4	186617130	186617130	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccttttttccctgtctaGaggtttcttcacatatacct	6	18	5	12	0	3	1	1	0	2	1	5	1	5	1	3	1	1	1	3	1	3	8	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.8950C>T	p.=	p.L2984L	ENST00000441802	11/27	223	208	15	359	359	0	strelka-varscan	FAT1,synonymous_variant,p.=,ENST00000441802,NM_005245.3;FAT1,synonymous_variant,p.=,ENST00000614102,;	A	ENST00000441802	Transcript	synonymous_variant	9160/14786	8950/13767	2984/4588	L	Cta/Tta		1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3			11/27		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	80	186617130	186617130	G	A	1	0	0	0	0	0	0	0	1	5549	933	33	3		3	FAT1	4	186617130	Silent	SNP	G	C3N-01488_TP	419597	186617130	3597425	171	26135											
CDH18	0	.	GRCh38	chr5	19612464	19612464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggtgggttgtcattgaCatcggttaaggtgatgttga	7	14	16	4	2	1	3	1	3	0	0	2	3	1	3	0	4	0	3	0	4	1	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.781G>T	p.Val261Phe	p.V261F	ENST00000507958	8/15	210	174	36	275	274	1	strelka-varscan	CDH18,missense_variant,p.Val261Phe,ENST00000507958,NM_001291956.1;CDH18,missense_variant,p.Val261Phe,ENST00000382275,NM_004934.3;CDH18,missense_variant,p.Val261Phe,ENST00000274170,;CDH18,missense_variant,p.Val261Phe,ENST00000506372,NM_001291957.1;CDH18,missense_variant,p.Val261Phe,ENST00000502796,NM_001167667.1;CDH18,missense_variant,p.Val261Phe,ENST00000511273,;CDH18,missense_variant,p.Val207Phe,ENST00000515257,;	A	ENST00000507958	Transcript	missense_variant	1772/3542	781/2373	261/790	V/F	Gtc/Ttc		1		-1	CDH18	HGNC	HGNC:1757	protein_coding	YES	CCDS3889.1	ENSP00000425093	Q13634		UPI0000126DBD	NM_001291956.1	deleterious(0)		8/15		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	80	19612464	19612464	C	A	1	0	0	0	0	1	0	0	0	2806	478	17	2		2	CDH18	5	19612464	Missense_Mutation	SNP	C	C3N-01488_TP		19612464	161925795	172	26136											
ZFR	0	.	GRCh38	chr5	32363995	32363995	+	Missense_Mutation	SNP	C	C	A																															ctgctggtcagtcattgttgCcaaggtatcaaagggatcct																								rs773771441		C3N-01488_TP	C3N-01488_NB	C	C																c.2998G>T	p.Ala1000Ser	p.A1000S	ENST00000265069	19/20	205	184	21	323	323	0	strelka-varscan	ZFR,missense_variant,p.Ala1000Ser,ENST00000265069,NM_016107.3;ZFR,non_coding_transcript_exon_variant,,ENST00000510369,;ZFR,3_prime_UTR_variant,,ENST00000507465,;ZFR,non_coding_transcript_exon_variant,,ENST00000514356,;ZFR,non_coding_transcript_exon_variant,,ENST00000502988,;	A	ENST00000265069	Transcript	missense_variant	3101/4738	2998/3225	1000/1074	A/S	Gca/Tca	rs773771441	1		-1	ZFR	HGNC	HGNC:17277	protein_coding	YES	CCDS34139.1	ENSP00000265069	Q96KR1		UPI00001BBB38	NM_016107.3	tolerated(0.32)		19/20		PROSITE_profiles:PS51703,hmmpanther:PTHR10910:SF87,hmmpanther:PTHR10910,Pfam_domain:PF07528,SMART_domains:SM00572																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	32363995	32363995	C	A	1	0	0	0	0	1	0	0	0	18237	739	26	2		2	ZFR	5	32363995	Missense_Mutation	SNP	C	C3N-01488_TP	12751531	32363995	149174264	173	26137	557	2									
ZFR	0	.	GRCh38	chr5	32363996	32363996	+	Missense_Mutation	SNP	C	C	A																															tgctggtcagtcattgttgcCaaggtatcaaagggatcctt																								rs763490085		C3N-01488_TP	C3N-01488_NB	C	C																c.2997G>T	p.Leu999Phe	p.L999F	ENST00000265069	19/20	203	183	20	321	319	2	strelka-varscan	ZFR,missense_variant,p.Leu999Phe,ENST00000265069,NM_016107.3;ZFR,non_coding_transcript_exon_variant,,ENST00000510369,;ZFR,3_prime_UTR_variant,,ENST00000507465,;ZFR,non_coding_transcript_exon_variant,,ENST00000514356,;ZFR,non_coding_transcript_exon_variant,,ENST00000502988,;	A	ENST00000265069	Transcript	missense_variant	3100/4738	2997/3225	999/1074	L/F	ttG/ttT	rs763490085	1		-1	ZFR	HGNC	HGNC:17277	protein_coding	YES	CCDS34139.1	ENSP00000265069	Q96KR1		UPI00001BBB38	NM_016107.3	deleterious(0)		19/20		PROSITE_profiles:PS51703,hmmpanther:PTHR10910:SF87,hmmpanther:PTHR10910,Pfam_domain:PF07528,SMART_domains:SM00572																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	32363996	32363996	C	A	1	0	0	0	0	1	0	0	0	18237	593	21	2		2	ZFR	5	32363996	Missense_Mutation	SNP	C	C3N-01488_TP	1	32363996	149174263	174	26138	557	2									
SUB1	0	.	GRCh38	chr5	32599028	32599028	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctaattgatattagagaatAttggatggatcctgaaggtg	13	13	12	3	0	0	3	0	2	0	1	1	6	1	5	1	3	0	1	1	3	6	6	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.263A>T	p.Tyr88Phe	p.Y88F	ENST00000265073	4/5	211	181	30	360	360	0	strelka-varscan	SUB1,missense_variant,p.Tyr88Phe,ENST00000265073,NM_006713.3;SUB1,missense_variant,p.Tyr88Phe,ENST00000506237,;SUB1,missense_variant,p.Tyr88Phe,ENST00000515355,;SUB1,missense_variant,p.Tyr88Phe,ENST00000512913,;SUB1,missense_variant,p.Tyr88Phe,ENST00000502897,;SUB1,non_coding_transcript_exon_variant,,ENST00000504789,;SUB1,non_coding_transcript_exon_variant,,ENST00000513013,;SUB1,intron_variant,,ENST00000504016,;SUB1,3_prime_UTR_variant,,ENST00000511615,;SUB1,non_coding_transcript_exon_variant,,ENST00000502453,;SUB1,non_coding_transcript_exon_variant,,ENST00000511175,;	T	ENST00000265073	Transcript	missense_variant	391/3507	263/384	88/127	Y/F	tAt/tTt		1		1	SUB1	HGNC	HGNC:19985	protein_coding	YES	CCDS3897.1	ENSP00000265073	P53999	Q6IBA2	UPI0000044938	NM_006713.3	tolerated(0.41)		4/5		hmmpanther:PTHR13215:SF7,hmmpanther:PTHR13215,Pfam_domain:PF02229,Gene3D:2.30.31.10,Superfamily_domains:SSF54447																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	32599028	32599028	A	T	1	0	0	0	0	1	0	0	0	15746	449	16	4		4	SUB1	5	32599028	Missense_Mutation	SNP	A	C3N-01488_TP	235032	32599028	148939231	175	26139											
ADAMTS12	0	.	GRCh38	chr5	33576060	33576060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaaatgtcttacctcgctCcagtttccgacgatccagtg	9	11	9	12	3	1	0	0	0	1	0	5	3	4	1	4	1	1	2	4	1	2	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.3966G>T	p.Trp1322Cys	p.W1322C	ENST00000504830	19/24	96	87	9	148	147	1	strelka-varscan	ADAMTS12,missense_variant,p.Trp1322Cys,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Trp1237Cys,ENST00000352040,;ADAMTS12,downstream_gene_variant,,ENST00000504582,;	A	ENST00000504830	Transcript	missense_variant	4302/8774	3966/4785	1322/1594	W/C	tgG/tgT		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	deleterious(0)		19/24		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	33576060	33576060	C	A	1	0	0	0	0	1	0	0	0	301	856	30	2		2	ADAMTS12	5	33576060	Missense_Mutation	SNP	C	C3N-01488_TP	977032	33576060	147962199	176	26140											
NNT	0	.	GRCh38	chr5	43615955	43615955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcccaaaatccagagttGctaaataaactttcccaaag	16	8	5	12	0	0	1	0	0	0	1	2	1	2	1	4	0	3	2	4	0	7	4	rs765251374		C3N-01488_TP	C3N-01488_NB	G	G																c.489G>T	p.Leu163Phe	p.L163F	ENST00000264663	4/22	318	273	45	402	400	2	strelka-varscan	NNT,missense_variant,p.Leu163Phe,ENST00000264663,NM_012343.3;NNT,missense_variant,p.Leu163Phe,ENST00000344920,NM_182977.2;NNT,missense_variant,p.Leu32Phe,ENST00000512996,;NNT,missense_variant,p.Leu163Phe,ENST00000512422,;NNT,missense_variant,p.Leu32Phe,ENST00000515208,;NNT,missense_variant,p.Leu163Phe,ENST00000505678,;	T	ENST00000264663	Transcript	missense_variant	710/6483	489/3261	163/1086	L/F	ttG/ttT	rs765251374	1		1	NNT	HGNC	HGNC:7863	protein_coding	YES	CCDS3949.1	ENSP00000264663	Q13423	A0A024R0C3	UPI000013D54F	NM_012343.3	deleterious(0)		4/22		Gene3D:3.40.50.1770,Pfam_domain:PF05222,hmmpanther:PTHR10160,hmmpanther:PTHR10160:SF22,SMART_domains:SM01003,Superfamily_domains:SSF52283,TIGRFAM_domain:TIGR00561																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	43615955	43615955	G	T	1	0	0	0	0	1	0	0	0	10551	1310	46	2		2	NNT	5	43615955	Missense_Mutation	SNP	G	C3N-01488_TP	10039895	43615955	137922304	177	26141											
ACTBL2	0	.	GRCh38	chr5	57482582	57482582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgcctaccataacgccCtggtgtcgaggacgccctat	8	8	9	16	3	0	0	0	0	0	0	1	2	0	1	5	2	3	0	5	2	3	3	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.126G>C	p.Gln42His	p.Q42H	ENST00000423391	1/1	353	293	60	460	459	1	strelka-varscan-mutect	ACTBL2,missense_variant,p.Gln42His,ENST00000423391,NM_001017992.3;CTD-2023N9.1,intron_variant,,ENST00000506106,;	G	ENST00000423391	Transcript	missense_variant	228/2794	126/1131	42/376	Q/H	caG/caC		1		-1	ACTBL2	HGNC	HGNC:17780	protein_coding	YES	CCDS34163.1	ENSP00000416706	Q562R1		UPI000013EB83	NM_001017992.3	tolerated_low_confidence(0.12)		1/1		hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF168,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE		SNV				1										PASS		rs1421001463	.												G	3	3	80	57482582	57482582	C	G	1	0	0	0	0	1	0	0	0	237	680	24	4		4	ACTBL2	5	57482582	Missense_Mutation	SNP	C	C3N-01488_TP	13866627	57482582	124055677	178	26142											
SLCO4C1	0	.	GRCh38	chr5	102247338	102247338	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggaatatgggcagtttCgcacaatgagtttcacattt	13	12	9	7	1	1	1	1	1	0	0	2	2	1	2	0	2	0	4	0	2	4	4	rs574597658		C3N-01488_TP	C3N-01488_NB	C	C																c.1725G>T	p.=	p.A575A	ENST00000310954	10/13	56	48	8	122	122	0	strelka-varscan	SLCO4C1,synonymous_variant,p.=,ENST00000310954,NM_180991.4;	A	ENST00000310954	Transcript	synonymous_variant	2012/5334	1725/2175	575/724	A	gcG/gcT	rs574597658,COSM1642543	1		-1	SLCO4C1	HGNC	HGNC:23612	protein_coding	YES	CCDS34205.1	ENSP00000309741	Q6ZQN7		UPI00001C10B6	NM_180991.4			10/13		Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF103,TIGRFAM_domain:TIGR00805											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												A	2	1	80	102247338	102247338	C	A	1	0	0	0	0	0	0	0	1	15017	871	31	1		1	SLCO4C1	5	102247338	Silent	SNP	C	C3N-01488_TP	44764756	102247338	79290921	179	26143											
GRAMD3	0	.	GRCh38	chr5	126473296	126473296	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctacagaaagaaatactAtaccaaggaaagctctttgt	16	10	7	8	0	2	2	0	0	2	2	2	3	2	3	1	1	4	2	1	1	8	5	rs759689240		C3N-01488_TP	C3N-01488_NB	A	A																c.459A>G	p.=	p.L153L	ENST00000513040	5/14	69	59	10	91	91	0	strelka-varscan	GRAMD3,synonymous_variant,p.=,ENST00000285689,NM_023927.2;GRAMD3,synonymous_variant,p.=,ENST00000515200,;GRAMD3,synonymous_variant,p.=,ENST00000542322,NM_001146321.1;GRAMD3,synonymous_variant,p.=,ENST00000544396,NM_001146320.1;GRAMD3,synonymous_variant,p.=,ENST00000513040,NM_001146319.1;GRAMD3,synonymous_variant,p.=,ENST00000511134,NM_001146322.1;GRAMD3,synonymous_variant,p.=,ENST00000502348,;GRAMD3,synonymous_variant,p.=,ENST00000506445,;RP11-517I3.1,intron_variant,,ENST00000515808,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000509882,;GRAMD3,downstream_gene_variant,,ENST00000514932,;GRAMD3,downstream_gene_variant,,ENST00000513913,;GRAMD3,downstream_gene_variant,,ENST00000505720,;GRAMD3,3_prime_UTR_variant,,ENST00000513978,;GRAMD3,3_prime_UTR_variant,,ENST00000514099,;GRAMD3,non_coding_transcript_exon_variant,,ENST00000504859,;GRAMD3,downstream_gene_variant,,ENST00000505441,;	G	ENST00000513040	Transcript	synonymous_variant	659/2196	459/1344	153/447	L	ctA/ctG	rs759689240	1		1	GRAMD3	HGNC	HGNC:24911	protein_coding	YES	CCDS54891.1	ENSP00000426120	Q96HH9		UPI0001914E8F	NM_001146319.1			5/14		Pfam_domain:PF02893,hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF5,SMART_domains:SM00568																	LOW	1	SNV	2			1										PASS		.	.												G	2	3	80	126473296	126473296	A	G	1	0	0	0	0	0	0	0	1	6630	436	16	5		5	GRAMD3	5	126473296	Silent	SNP	A	C3N-01488_TP	24225958	126473296	55064963	180	26144											
ADAMTS19	0	.	GRCh38	chr5	129526416	129526416	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggtttcctatcatggagCagatgcagccaggagattca	12	10	11	8	0	2	2	2	0	0	2	3	4	3	3	2	3	3	3	2	3	2	3	rs770860264		C3N-01488_TP	C3N-01488_NB	C	C																c.1028C>A	p.Ala343Glu	p.A343E	ENST00000274487	4/23	237	204	33	359	359	0	strelka-varscan	ADAMTS19,missense_variant,p.Ala343Glu,ENST00000274487,NM_133638.3;CTC-575N7.1,intron_variant,,ENST00000503616,;ADAMTS19,missense_variant,p.Ala128Glu,ENST00000502709,;ADAMTS19,3_prime_UTR_variant,,ENST00000505791,;	A	ENST00000274487	Transcript	missense_variant	1173/5234	1028/3624	343/1207	A/E	gCa/gAa	rs770860264	1		1	ADAMTS19	HGNC	HGNC:17111	protein_coding	YES	CCDS4146.1	ENSP00000274487	Q8TE59		UPI000013DA0D	NM_133638.3	deleterious(0.04)		4/23		PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF197,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	129526416	129526416	C	A	1	0	0	0	0	1	0	0	0	308	710	25	2		2	ADAMTS19	5	129526416	Missense_Mutation	SNP	C	C3N-01488_TP	3053120	129526416	52011843	181	26145											
RAD50	0	.	GRCh38	chr5	132559359	132559359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaatacatttgtacacGatcccaaggtaatggtgcta	15	10	9	7	1	0	0	0	0	0	0	1	2	1	1	1	3	3	3	1	3	7	5	rs370769989		C3N-01488_TP	C3N-01488_NB	G	G																c.205G>T	p.Asp69Tyr	p.D69Y	ENST00000378823	2/25	190	161	29	271	271	0	strelka-varscan	RAD50,missense_variant,p.Asp69Tyr,ENST00000378823,NM_005732.3;RAD50,missense_variant,p.Asp69Tyr,ENST00000453394,;RAD50,5_prime_UTR_variant,,ENST00000416135,;IL5,upstream_gene_variant,,ENST00000450655,;RAD50,missense_variant,p.Asp69Tyr,ENST00000533482,;RAD50,missense_variant,p.Asp69Tyr,ENST00000423956,;	T	ENST00000378823	Transcript	missense_variant	592/8306	205/3939	69/1312	D/Y	Gat/Tat	rs370769989,COSM332051,COSM420422	1		1	RAD50	HGNC	HGNC:9816	protein_coding	YES	CCDS34233.1	ENSP00000368100	Q92878		UPI000006E9ED	NM_005732.3	deleterious(0)		2/25		Gene3D:3.40.50.300,Pfam_domain:PF13476,hmmpanther:PTHR18867,hmmpanther:PTHR18867:SF12,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00606										uncertain_significance	0,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	80	132559359	132559359	G	T	1	0	0	0	0	1	0	0	0	13145	1058	37	1		1	RAD50	5	132559359	Missense_Mutation	SNP	G	C3N-01488_TP	3032943	132559359	48978900	182	26146											
RAD50	0	.	GRCh38	chr5	132595584	132595584	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaatagccatgctggctGgagccacagcagtttactcc	11	10	9	11	0	0	0	0	0	0	0	1	1	1	1	3	2	5	4	3	2	4	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1981G>T	p.Gly661Ter	p.G661*	ENST00000378823	13/25	239	199	40	334	333	1	strelka-varscan	RAD50,stop_gained,p.Gly661Ter,ENST00000378823,NM_005732.3;RAD50,stop_gained,p.Gly600Ter,ENST00000453394,;RAD50,downstream_gene_variant,,ENST00000434288,;RAD50,non_coding_transcript_exon_variant,,ENST00000496204,;RAD50,3_prime_UTR_variant,,ENST00000533482,;RAD50,3_prime_UTR_variant,,ENST00000423956,;	T	ENST00000378823	Transcript	stop_gained	2368/8306	1981/3939	661/1312	G/*	Gga/Tga		1		1	RAD50	HGNC	HGNC:9816	protein_coding	YES	CCDS34233.1	ENSP00000368100	Q92878		UPI000006E9ED	NM_005732.3			13/25		Superfamily_domains:0053474,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF04423,PROSITE_profiles:PS51131,hmmpanther:PTHR18867,hmmpanther:PTHR18867:SF12,TIGRFAM_domain:TIGR00606																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	80	132595584	132595584	G	T	1	0	0	0	0	0	1	0	0	13145	1349	47	2		2	RAD50	5	132595584	Nonsense_Mutation	SNP	G	C3N-01488_TP	36225	132595584	48942675	183	26147											
SCGB3A2	0	.	GRCh38	chr5	147881614	147881614	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaagtgtgtaaatgagctggGaccagaggcttctgaagctg	11	9	15	6	0	1	3	0	2	1	1	1	5	1	4	1	2	2	4	1	2	4	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.224G>C	p.Gly75Ala	p.G75A	ENST00000296694	2/3	160	134	26	243	243	0	strelka-varscan	SCGB3A2,missense_variant,p.Gly75Ala,ENST00000296694,NM_054023.4;SCGB3A2,missense_variant,p.Gly30Ala,ENST00000504320,;CTC-327F10.5,downstream_gene_variant,,ENST00000512300,;SCGB3A2,non_coding_transcript_exon_variant,,ENST00000514688,;SCGB3A2,non_coding_transcript_exon_variant,,ENST00000507160,;C5orf46,intron_variant,,ENST00000510432,;	C	ENST00000296694	Transcript	missense_variant	317/515	224/282	75/93	G/A	gGa/gCa		1		1	SCGB3A2	HGNC	HGNC:18391	protein_coding	YES	CCDS4287.1	ENSP00000296694	Q96PL1	Q2L6B3	UPI0000001278	NM_054023.4	deleterious(0.02)		2/3		hmmpanther:PTHR34829,hmmpanther:PTHR34829:SF2,Pfam_domain:PF01099,PD586436																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	80	147881614	147881614	G	C	1	0	0	0	0	1	0	0	0	14170	1174	41	4		4	SCGB3A2	5	147881614	Missense_Mutation	SNP	G	C3N-01488_TP	15286030	147881614	33656645	184	26148											
FBXO38	0	.	GRCh38	chr5	148406265	148406265	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttttttccaggacccacaAattccttgaaatatgtccct	10	16	4	11	0	0	1	0	1	0	0	3	2	3	2	4	1	0	0	4	1	3	7	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.739A>T	p.Asn247Tyr	p.N247Y	ENST00000394370	7/22	78	57	21	109	109	0	strelka-varscan	FBXO38,missense_variant,p.Asn247Tyr,ENST00000340253,;FBXO38,missense_variant,p.Asn247Tyr,ENST00000394370,NM_030793.4;FBXO38,missense_variant,p.Asn247Tyr,ENST00000296701,NM_001271723.1;FBXO38,missense_variant,p.Asn247Tyr,ENST00000513826,;FBXO38,non_coding_transcript_exon_variant,,ENST00000509699,;FBXO38,intron_variant,,ENST00000511080,;FBXO38,downstream_gene_variant,,ENST00000503613,;FBXO38,downstream_gene_variant,,ENST00000521160,;FBXO38,non_coding_transcript_exon_variant,,ENST00000502571,;FBXO38,downstream_gene_variant,,ENST00000508326,;FBXO38,upstream_gene_variant,,ENST00000508670,;FBXO38,downstream_gene_variant,,ENST00000502629,;	T	ENST00000394370	Transcript	missense_variant	840/4132	739/3342	247/1113	N/Y	Aat/Tat		1		1	FBXO38	HGNC	HGNC:28844	protein_coding	YES	CCDS43384.1	ENSP00000377895	Q6PIJ6		UPI000034ECEB	NM_030793.4	deleterious(0)		7/22		hmmpanther:PTHR14753,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	148406265	148406265	A	T	1	0	0	0	0	1	0	0	0	5609	14	1	4		4	FBXO38	5	148406265	Missense_Mutation	SNP	A	C3N-01488_TP	524651	148406265	33131994	185	26149											
ATP10B	0	.	GRCh38	chr5	160606839	160606839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctggagtggcgtggagCggcagcacaggacggaccga	8	6	17	10	4	2	0	0	0	2	0	2	5	2	4	1	6	2	2	1	6	0	1	rs200782414		C3N-01488_TP	C3N-01488_NB	C	C																c.3086G>T	p.Arg1029Leu	p.R1029L	ENST00000327245	19/26	282	239	43	357	356	1	strelka-varscan	ATP10B,missense_variant,p.Arg1029Leu,ENST00000327245,NM_025153.2;ATP10B,upstream_gene_variant,,ENST00000523758,;ATP10B,downstream_gene_variant,,ENST00000522169,;ATP10B,non_coding_transcript_exon_variant,,ENST00000517815,;	A	ENST00000327245	Transcript	missense_variant	3933/7566	3086/4386	1029/1461	R/L	cGc/cTc	rs200782414,COSM3853354	1		-1	ATP10B	HGNC	HGNC:13543	protein_coding	YES	CCDS43394.1	ENSP00000313600	O94823		UPI0000191DAE	NM_025153.2	deleterious(0.01)		19/26		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF79,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,Superfamily_domains:SSF56784											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	80	160606839	160606839	C	A	1	0	0	0	0	1	0	0	0	1269	768	27	1		1	ATP10B	5	160606839	Missense_Mutation	SNP	C	C3N-01488_TP	12200574	160606839	20931420	186	26150											
MAT2B	0	.	GRCh38	chr5	163517675	163517675	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagtcacttaagacctGtaagtacatggctgtaaaaa	15	9	8	9	0	1	1	1	0	0	1	1	1	1	1	2	1	2	5	2	1	6	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.834+1G>T		p.X278_splice	ENST00000321757		109	81	28	150	150	0	strelka-varscan	MAT2B,splice_donor_variant,,ENST00000280969,NM_182796.2;MAT2B,splice_donor_variant,,ENST00000321757,NM_013283.4;MAT2B,3_prime_UTR_variant,,ENST00000518095,;MAT2B,downstream_gene_variant,,ENST00000421814,;MAT2B,splice_donor_variant,,ENST00000521838,;MAT2B,splice_donor_variant,,ENST00000523606,;MAT2B,downstream_gene_variant,,ENST00000520449,;	T	ENST00000321757	Transcript	splice_donor_variant	-/2103	834/1005	278/334				1		1	MAT2B	HGNC	HGNC:6905	protein_coding	YES	CCDS4365.1	ENSP00000325425	Q9NZL9	A0A140VJP2	UPI0000037B81	NM_013283.4				6/6																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	80	163517675	163517675	G	T	1	0	0	0	0	0	0	1	0	9257	1391	48	2		2	MAT2B	5	163517675	Splice_Site	SNP	G	C3N-01488_TP	2910836	163517675	18020584	187	26151											
TENM2	0	.	GRCh38	chr5	168126857	168126857	+	Frame_Shift_Del	DEL	C	C	-																															tgtgaccagcgcgtgtgccaCccccgctgcattgagcacgg																								novel		C3N-01488_TP	C3N-01488_NB	C	C																c.2317delC	p.Arg773AlafsTer127	p.R773Afs*127	ENST00000518659	12/29	224	178	46	302	301	1	sindel-varindel-pindel	TENM2,frameshift_variant,p.Arg652AlafsTer127,ENST00000519204,;TENM2,frameshift_variant,p.Arg773AlafsTer127,ENST00000518659,NM_001122679.1;TENM2,frameshift_variant,p.Arg541AlafsTer127,ENST00000520394,;CTB-178M22.1,intron_variant,,ENST00000517408,;CTB-105N12.2,upstream_gene_variant,,ENST00000624423,;	-	ENST00000518659	Transcript	frameshift_variant	2352/8550	2313/8325	771/2774	H/X	caC/ca		1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1			12/29		PROSITE_profiles:PS50026,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,Gene3D:2gy5A03,SMART_domains:SM00181																	HIGH		deletion	5	4		1										PASS		.	.												-	7	5	80	168126857	168126857	C	-	1	0	1	0	1	0	0	0	0	16172	506	18	0		0	TENM2	5	168126857	Frame_Shift_Del	DEL	C	C3N-01488_TP	4609182	168126857	13411402	188	26152											
TENM2	0	.	GRCh38	chr5	168218497	168218497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctattcaggagatgatGcctacgcgactgatgccatc	10	10	10	11	2	1	3	1	2	0	1	2	5	1	3	2	1	4	1	2	1	2	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.4606G>T	p.Ala1536Ser	p.A1536S	ENST00000518659	23/29	268	219	49	358	358	0	strelka-varscan	TENM2,missense_variant,p.Ala1415Ser,ENST00000519204,;TENM2,missense_variant,p.Ala1536Ser,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Ala1297Ser,ENST00000520394,;	T	ENST00000518659	Transcript	missense_variant	4645/8550	4606/8325	1536/2774	A/S	Gcc/Tcc		1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1	tolerated(0.06)		23/29		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,Gene3D:2.120.10.30,Superfamily_domains:SSF101898																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	168218497	168218497	G	T	1	0	0	0	0	1	0	0	0	16172	1319	46	2		2	TENM2	5	168218497	Missense_Mutation	SNP	G	C3N-01488_TP	91640	168218497	13319762	189	26153											
DOCK2	0	.	GRCh38	chr5	169716224	169716224	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttccagtttctccaggaTactctggatgccctcttcaa	7	15	6	13	0	5	0	1	0	4	0	7	2	6	2	3	2	2	1	3	2	2	5	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.1953T>C	p.=	p.D651D	ENST00000256935	20/52	144	107	37	187	187	0	strelka-varscan	DOCK2,synonymous_variant,p.=,ENST00000256935,NM_004946.2;DOCK2,synonymous_variant,p.=,ENST00000520908,;DOCK2,intron_variant,,ENST00000540750,;DOCK2,upstream_gene_variant,,ENST00000520836,;DOCK2,synonymous_variant,p.=,ENST00000524185,;	C	ENST00000256935	Transcript	synonymous_variant	2033/6097	1953/5493	651/1830	D	gaT/gaC		1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2			20/52		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	80	169716224	169716224	T	C	1	0	0	0	0	0	0	0	1	4502	1403	49	5		5	DOCK2	5	169716224	Silent	SNP	T	C3N-01488_TP	1497727	169716224	11822035	190	26154											
STC2	0	.	GRCh38	chr5	173318018	173318018	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccctactgctgggctctggGaggtgatgtcctgcttcccc	3	12	12	14	0	1	1	0	1	1	0	4	2	4	2	4	3	3	3	4	3	1	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.738C>A	p.=	p.L246L	ENST00000265087	4/4	72	58	14	89	89	0	strelka-varscan	STC2,synonymous_variant,p.=,ENST00000265087,NM_003714.2;STC2,downstream_gene_variant,,ENST00000520648,;STC2,downstream_gene_variant,,ENST00000520593,;	T	ENST00000265087	Transcript	synonymous_variant	2048/5353	738/909	246/302	L	ctC/ctA		1		-1	STC2	HGNC	HGNC:11374	protein_coding	YES	CCDS4388.1	ENSP00000265087	O76061	Q6FHC9	UPI00001360B8	NM_003714.2			4/4		hmmpanther:PTHR11245:SF2,hmmpanther:PTHR11245																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	80	173318018	173318018	G	T	1	0	0	0	0	0	0	0	1	15652	1161	41	2		2	STC2	5	173318018	Silent	SNP	G	C3N-01488_TP	3601794	173318018	8220241	191	26155											
DBN1	0	.	GRCh38	chr5	177466947	177466947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcccgctcccggtagCgccgctcgcgctcctcttgc	1	9	11	20	6	1	0	0	0	1	0	5	0	4	0	4	1	3	6	4	1	1	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.677G>T	p.Arg226Leu	p.R226L	ENST00000292385	8/15	244	199	45	293	293	0	strelka-varscan-mutect	DBN1,missense_variant,p.Arg226Leu,ENST00000292385,NM_080881.2;DBN1,missense_variant,p.Arg224Leu,ENST00000309007,NM_004395.3;DBN1,missense_variant,p.Arg224Leu,ENST00000393565,;DBN1,missense_variant,p.Arg223Leu,ENST00000477391,;DBN1,upstream_gene_variant,,ENST00000512501,;DBN1,downstream_gene_variant,,ENST00000506117,;DBN1,downstream_gene_variant,,ENST00000514833,;DBN1,non_coding_transcript_exon_variant,,ENST00000472831,;DBN1,non_coding_transcript_exon_variant,,ENST00000471767,;DBN1,downstream_gene_variant,,ENST00000505550,;	A	ENST00000292385	Transcript	missense_variant	1287/3072	677/1956	226/651	R/L	cGc/cTc		1		-1	DBN1	HGNC	HGNC:2695	protein_coding	YES	CCDS4421.1	ENSP00000292385	Q16643		UPI0000457395	NM_080881.2	deleterious(0.02)		8/15		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10829:SF1,hmmpanther:PTHR10829																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	177466947	177466947	C	A	1	0	0	0	0	1	0	0	0	4052	768	27	1		1	DBN1	5	177466947	Missense_Mutation	SNP	C	C3N-01488_TP	4148929	177466947	4071312	192	26156											
ZNF354B	0	.	GRCh38	chr5	178883561	178883561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagtctagctcatcccttcGttatcatcagagaattcaca	12	13	5	11	1	5	1	4	0	1	1	7	2	6	1	1	0	1	2	1	0	4	5	rs570095961		C3N-01488_TP	C3N-01488_NB	G	G																c.1109G>T	p.Arg370Leu	p.R370L	ENST00000322434	5/5	188	152	36	289	288	1	strelka-varscan-mutect	ZNF354B,missense_variant,p.Arg370Leu,ENST00000322434,NM_058230.2;ZNF354B,downstream_gene_variant,,ENST00000520377,;RNU1-39P,upstream_gene_variant,,ENST00000383897,;ZNF354B,upstream_gene_variant,,ENST00000522714,;ZNF354B,upstream_gene_variant,,ENST00000522624,;	T	ENST00000322434	Transcript	missense_variant	1335/2802	1109/1839	370/612	R/L	cGt/cTt	rs570095961,COSM4159788	1		1	ZNF354B	HGNC	HGNC:17197	protein_coding	YES	CCDS4439.1	ENSP00000327143	Q96LW1		UPI0000071A24	NM_058230.2	tolerated(0.08)		5/5		Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF87,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs570095961	.												T	3	4	80	178883561	178883561	G	T	1	0	0	0	0	1	0	0	0	18437	1145	40	1		1	ZNF354B	5	178883561	Missense_Mutation	SNP	G	C3N-01488_TP	1416614	178883561	2654698	193	26157											
SERPINB9	0	.	GRCh38	chr6	2896144	2896144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgttcacttcagtgagaagcGactggaaagcccgatgaatg	12	9	12	8	2	2	2	2	2	0	1	2	6	2	3	1	1	2	1	1	1	3	2	rs555422802		C3N-01488_TP	C3N-01488_NB	G	G																c.215C>G	p.Ser72Trp	p.S72W	ENST00000380698	3/7	171	150	21	248	248	0	strelka-varscan-mutect	SERPINB9,missense_variant,p.Ser72Trp,ENST00000380698,NM_004155.5;	C	ENST00000380698	Transcript	missense_variant	305/4118	215/1131	72/376	S/W	tCg/tGg	rs555422802,COSM277223	1		-1	SERPINB9	HGNC	HGNC:8955	protein_coding	YES	CCDS4478.1	ENSP00000370074	P50453	A0A024QZT4	UPI000000121F	NM_004155.5	deleterious(0.04)		3/7		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF67,SMART_domains:SM00093,Superfamily_domains:SSF56574											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs555422802	.												C	3	2	80	2896144	2896144	G	C	1	0	0	0	0	1	0	0	0	14384	1059	37	4		4	SERPINB9	6	2896144	Missense_Mutation	SNP	G	C3N-01488_TP		2896144	167909835	194	26158											
AL078584.1	0	.	GRCh38	chr6	24849925	24849925	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctacctaccaggatgtgaGttgctagccctttgagctcc	7	11	10	13	1	0	2	0	2	0	0	1	3	1	3	4	1	5	4	4	1	3	5	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.824C>G	p.Thr275Ser	p.T275S	ENST00000613507	11/23	106	91	15	139	139	0	strelka-varscan-mutect	FAM65B,missense_variant,p.Thr275Ser,ENST00000613507,;FAM65B,missense_variant,p.Thr275Ser,ENST00000259698,NM_014722.3;FAM65B,missense_variant,p.Thr304Ser,ENST00000538035,NM_001286445.1;FAM65B,missense_variant,p.Thr275Ser,ENST00000540914,NM_001286447.1;FAM65B,missense_variant,p.Thr275Ser,ENST00000378023,NM_015864.3;AL078584.1,missense_variant,p.Thr309Ser,ENST00000510784,NM_001286446.1;	C	ENST00000613507	Transcript	missense_variant	1065/5539	824/3207	275/1068	T/S	aCt/aGt		1		-1	FAM65B	HGNC	HGNC:13872	protein_coding	YES	CCDS47383.1	ENSP00000482957	Q9Y4F9	A0A024QZY9	UPI0000EE554D		tolerated(0.37)		11/23		Pfam_domain:PF15903,hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF2																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	80	24849925	24849925	G	C	1	0	0	0	0	1	0	0	0	571	1029	36	4		4	AL078584.1	6	24849925	Missense_Mutation	SNP	G	C3N-01488_TP	21953781	24849925	145956054	195	26159											
SLC17A4	0	.	GRCh38	chr6	25770985	25770985	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctctgccagaccataGgatggccttacgtcttctat	7	13	8	13	1	4	1	0	0	4	1	5	2	4	2	4	2	2	0	4	2	3	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.679G>T	p.Gly227Ter	p.G227*	ENST00000377905	6/12	229	205	24	320	320	0	strelka-varscan-mutect	SLC17A4,stop_gained,p.Gly173Ter,ENST00000439485,NM_001286121.1;SLC17A4,stop_gained,p.Gly227Ter,ENST00000377905,NM_005495.2;SLC17A4,intron_variant,,ENST00000397076,;	T	ENST00000377905	Transcript	stop_gained	798/3616	679/1494	227/497	G/*	Gga/Tga		1		1	SLC17A4	HGNC	HGNC:10932	protein_coding	YES	CCDS4564.1	ENSP00000367137	Q9Y2C5	A0A024R013	UPI0000073585	NM_005495.2			6/12		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF284,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	80	25770985	25770985	G	T	1	0	0	0	0	0	1	0	0	14684	1001	35	2		2	SLC17A4	6	25770985	Nonsense_Mutation	SNP	G	C3N-01488_TP	921060	25770985	145034994	196	26160											
SLC17A1	0	.	GRCh38	chr6	25798866	25798866	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtagaaaattaggccagtCacattaatggctgccatcag	14	9	10	8	0	2	1	2	0	0	1	2	1	2	1	2	3	1	2	2	3	5	3	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1323G>T	p.=	p.V441V	ENST00000244527	12/13	107	95	12	170	170	0	strelka-varscan-mutect	SLC17A1,synonymous_variant,p.=,ENST00000244527,NM_005074.3;SLC17A1,synonymous_variant,p.=,ENST00000476801,;SLC17A1,synonymous_variant,p.=,ENST00000468082,;SLC17A1,3_prime_UTR_variant,,ENST00000377886,;	A	ENST00000244527	Transcript	synonymous_variant	1439/1844	1323/1404	441/467	V	gtG/gtT		1		-1	SLC17A1	HGNC	HGNC:10929	protein_coding	YES	CCDS4565.1	ENSP00000244527	Q14916		UPI00000719C0	NM_005074.3			12/13		Gene3D:1.20.1250.20,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF26,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00894,Transmembrane_helices:TMhelix																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	80	25798866	25798866	C	A	1	0	0	0	0	0	0	0	1	14681	813	29	2		2	SLC17A1	6	25798866	Silent	SNP	C	C3N-01488_TP	27881	25798866	145007113	197	26161											
HIST1H2AD	0	.	GRCh38	chr6	26198914	26198914	+	Silent	SNP	G	G	T																															agcagtacagcctggatgttGggcagaacaccgccctgagc																								rs749812440		C3N-01488_TP	C3N-01488_NB	G	G																c.330C>A	p.=	p.P110P	ENST00000635200	1/2	231	209	22	323	323	0	strelka-varscan-mutect	RP1-34B20.21,synonymous_variant,p.=,ENST00000635200,;HIST1H2AD,synonymous_variant,p.=,ENST00000341023,NM_021065.3;HIST1H2BF,upstream_gene_variant,,ENST00000356530,NM_003522.3;HIST1H3D,upstream_gene_variant,,ENST00000356476,NM_003530.4;RP1-34B20.21,synonymous_variant,p.=,ENST00000635641,;HIST1H1PS1,downstream_gene_variant,,ENST00000404269,;RP1-34B20.4,upstream_gene_variant,,ENST00000405418,;	T	ENST00000635200	Transcript	synonymous_variant	380/948	330/510	110/169	P	ccC/ccA	rs749812440	1		-1	RP1-34B20.21	Clone_based_vega_gene		protein_coding	YES		ENSP00000489311		A0A0U1RR32	UPI0000491EBF				1/2		Gene3D:1.10.20.10,Pfam_domain:PF16211,Prints_domain:PR00620,hmmpanther:PTHR23430,SMART_domains:SM00414,Superfamily_domains:SSF47113																	LOW	1	SNV	3			1										PASS		rs749812440	.												T	2	4	80	26198914	26198914	G	T	1	0	0	0	0	0	0	0	1	7019	1335	47	2		2	HIST1H2AD	6	26198914	Silent	SNP	G	C3N-01488_TP	400048	26198914	144607065	198	26162	558	2									
HIST1H2AD	0	.	GRCh38	chr6	26198915	26198915	+	Missense_Mutation	SNP	G	G	T																															gcagtacagcctggatgttgGgcagaacaccgccctgagca																								rs768963286		C3N-01488_TP	C3N-01488_NB	G	G																c.329C>A	p.Pro110His	p.P110H	ENST00000635200	1/2	231	208	23	324	322	2	strelka-varscan-mutect	RP1-34B20.21,missense_variant,p.Pro110His,ENST00000635200,;HIST1H2AD,missense_variant,p.Pro110His,ENST00000341023,NM_021065.3;HIST1H2BF,upstream_gene_variant,,ENST00000356530,NM_003522.3;HIST1H3D,upstream_gene_variant,,ENST00000356476,NM_003530.4;RP1-34B20.21,missense_variant,p.Pro110His,ENST00000635641,;HIST1H1PS1,downstream_gene_variant,,ENST00000404269,;RP1-34B20.4,upstream_gene_variant,,ENST00000405418,;	T	ENST00000635200	Transcript	missense_variant	379/948	329/510	110/169	P/H	cCc/cAc	rs768963286	1		-1	RP1-34B20.21	Clone_based_vega_gene		protein_coding	YES		ENSP00000489311		A0A0U1RR32	UPI0000491EBF		deleterious_low_confidence(0)		1/2		Gene3D:1.10.20.10,Pfam_domain:PF16211,Prints_domain:PR00620,hmmpanther:PTHR23430,SMART_domains:SM00414,Superfamily_domains:SSF47113																	MODERATE	1	SNV	3			1										PASS		rs768963286	.												T	3	4	80	26198915	26198915	G	T	1	0	0	0	0	1	0	0	0	7019	1232	43	2		2	HIST1H2AD	6	26198915	Missense_Mutation	SNP	G	C3N-01488_TP	1	26198915	144607064	199	26163	558	2									
MAS1L	0	.	GRCh38	chr6	29487612	29487612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccacagcaaagcagccaGaagacagtgccattcaataa	16	4	8	13	0	1	2	1	0	0	2	1	2	1	2	4	0	4	2	4	0	4	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.291C>A	p.Phe97Leu	p.F97L	ENST00000377127	1/1	318	288	30	404	402	2	strelka-varscan-mutect	MAS1L,missense_variant,p.Phe97Leu,ENST00000377127,NM_052967.1;RPS17P1,downstream_gene_variant,,ENST00000396783,;	T	ENST00000377127	Transcript	missense_variant	345/1260	291/1137	97/378	F/L	ttC/ttA		1		-1	MAS1L	HGNC	HGNC:13961	protein_coding	YES	CCDS4661.1	ENSP00000366331	P35410	W8W3J1	UPI000003B44C	NM_052967.1	tolerated(1)		1/1		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF12,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	80	29487612	29487612	G	T	1	0	0	0	0	1	0	0	0	9247	933	33	2		2	MAS1L	6	29487612	Missense_Mutation	SNP	G	C3N-01488_TP	3288697	29487612	141318367	200	26164											
PPP1R10	0	.	GRCh38	chr6	30604624	30604624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgggacttcaacagggggaaCcggggtgcctggacggtctg	7	6	18	10	3	2	0	1	0	1	0	2	3	2	3	2	7	3	0	2	7	2	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1066G>C	p.Val356Leu	p.V356L	ENST00000376511	12/20	208	161	47	289	289	0	strelka-varscan-mutect	PPP1R10,missense_variant,p.Val356Leu,ENST00000376511,NM_002714.3;PPP1R10,non_coding_transcript_exon_variant,,ENST00000476704,;PPP1R10,downstream_gene_variant,,ENST00000461593,;PPP1R10,upstream_gene_variant,,ENST00000496955,;PPP1R10,downstream_gene_variant,,ENST00000468181,;	G	ENST00000376511	Transcript	missense_variant	1619/4525	1066/2823	356/940	V/L	Gtt/Ctt		1		-1	PPP1R10	HGNC	HGNC:9284	protein_coding	YES	CCDS4681.1	ENSP00000365694	Q96QC0	Q2L6I0	UPI000000D73C	NM_002714.3	tolerated(0.07)		12/20		hmmpanther:PTHR12506,hmmpanther:PTHR12506:SF18,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	30604624	30604624	C	G	1	0	0	0	0	1	0	0	0	12462	507	18	4		4	PPP1R10	6	30604624	Missense_Mutation	SNP	C	C3N-01488_TP	1117012	30604624	140201355	201	26165											
CDC5L	0	.	GRCh38	chr6	44445779	44445779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaacagttgaatgacttatGggaccaaattgaacaggctc	15	9	10	7	0	0	3	0	3	0	0	1	5	0	4	1	2	2	2	1	2	5	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.2216G>T	p.Trp739Leu	p.W739L	ENST00000371477	15/16	331	301	30	501	500	1	strelka-varscan-mutect	CDC5L,missense_variant,p.Trp739Leu,ENST00000371477,NM_001253.3;	T	ENST00000371477	Transcript	missense_variant	2515/6423	2216/2409	739/802	W/L	tGg/tTg		1		1	CDC5L	HGNC	HGNC:1743	protein_coding	YES	CCDS4912.1	ENSP00000360532	Q99459		UPI000006EE42	NM_001253.3	tolerated(0.59)		15/16																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	44445779	44445779	G	T	1	0	0	0	0	1	0	0	0	2785	1357	47	2		2	CDC5L	6	44445779	Missense_Mutation	SNP	G	C3N-01488_TP	13841155	44445779	126360200	202	26166											
ADGRF2	0	.	GRCh38	chr6	47681993	47681993	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagccaagtgacaaagacAgagatcacctatttacgcca	15	7	9	10	1	1	3	1	1	0	2	1	5	1	4	3	1	2	0	3	1	4	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1434A>C	p.=	p.T478T	ENST00000296862	6/6	240	217	23	312	311	1	strelka-varscan-mutect	ADGRF2,synonymous_variant,p.=,ENST00000398742,NM_153839.6;ADGRF2,synonymous_variant,p.=,ENST00000507065,;ADGRF2,synonymous_variant,p.=,ENST00000296862,;ADGRF4,upstream_gene_variant,,ENST00000371220,;ADGRF2,synonymous_variant,p.=,ENST00000467205,;	C	ENST00000296862	Transcript	synonymous_variant	1434/2127	1434/2127	478/708	T	acA/acC		1		1	ADGRF2	HGNC	HGNC:18991	protein_coding	YES		ENSP00000296862	Q8IZF7		UPI000007411C				6/6		Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF54																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	80	47681993	47681993	A	C	1	0	0	0	0	0	0	0	1	364	175	7	5		5	ADGRF2	6	47681993	Silent	SNP	A	C3N-01488_TP	3236214	47681993	123123986	203	26167											
PTCHD4	0	.	GRCh38	chr6	47878459	47878459	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacaaaacagtgcagaagTgtgcaacccccagtgagcag	16	5	10	10	0	0	2	0	1	0	1	0	2	0	2	2	0	6	3	2	0	5	1	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.2385A>T	p.=	p.T795T	ENST00000339488	3/3	146	116	30	248	248	0	strelka-varscan-mutect	PTCHD4,synonymous_variant,p.=,ENST00000339488,NM_001013732.3;	A	ENST00000339488	Transcript	synonymous_variant	2419/2850	2385/2541	795/846	T	acA/acT		1		-1	PTCHD4	HGNC	HGNC:21345	protein_coding	YES	CCDS34473.2	ENSP00000341914	Q6ZW05		UPI000179A8D3	NM_001013732.3			3/3		Gene3D:2j8sB01,Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Low_complexity_(Seg):seg,Superfamily_domains:SSF82866,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	80	47878459	47878459	T	A	1	0	0	0	0	0	0	0	1	12887	1683	59	4		4	PTCHD4	6	47878459	Silent	SNP	T	C3N-01488_TP	196466	47878459	122927520	204	26168											
PTCHD4	0	.	GRCh38	chr6	47879162	47879162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttattggcactgacgttgCtgactttcaggaactggtag	8	14	12	7	1	1	2	1	2	0	0	1	3	1	3	0	3	2	5	0	3	3	5	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1682G>T	p.Ser561Ile	p.S561I	ENST00000339488	3/3	201	169	32	334	334	0	strelka-varscan-mutect	PTCHD4,missense_variant,p.Ser561Ile,ENST00000339488,NM_001013732.3;	A	ENST00000339488	Transcript	missense_variant	1716/2850	1682/2541	561/846	S/I	aGc/aTc		1		-1	PTCHD4	HGNC	HGNC:21345	protein_coding	YES	CCDS34473.2	ENSP00000341914	Q6ZW05		UPI000179A8D3	NM_001013732.3	tolerated(0.43)		3/3		Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	80	47879162	47879162	C	A	1	0	0	0	0	1	0	0	0	12887	797	28	2		2	PTCHD4	6	47879162	Missense_Mutation	SNP	C	C3N-01488_TP	703	47879162	122926817	205	26169											
GFRAL	0	.	GRCh38	chr6	55333911	55333911	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctattgtactgtgaacAaactgcttggaaaaaaatgt	15	13	7	6	0	1	1	0	1	1	0	1	2	1	2	0	1	4	2	0	1	7	5	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.283A>G	p.Lys95Glu	p.K95E	ENST00000340465	3/9	66	57	9	124	124	0	strelka-varscan-mutect	GFRAL,missense_variant,p.Lys95Glu,ENST00000340465,NM_207410.2;	G	ENST00000340465	Transcript	missense_variant	369/1911	283/1185	95/394	K/E	Aaa/Gaa		1		1	GFRAL	HGNC	HGNC:32789	protein_coding	YES	CCDS4957.1	ENSP00000343636	Q6UXV0		UPI000023780D	NM_207410.2	tolerated(0.11)		3/9		hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF1,SMART_domains:SM00907																	MODERATE	1	SNV	1			1										PASS		rs925064576	.												G	3	3	80	55333911	55333911	A	G	1	0	0	0	0	1	0	0	0	6225	131	5	5		5	GFRAL	6	55333911	Missense_Mutation	SNP	A	C3N-01488_TP	7454749	55333911	115472068	206	26170											
EYS	0	.	GRCh38	chr6	65494800	65494800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtattttccagaaaatggaGgctggcaatggcagctatat	13	11	11	6	0	0	1	0	0	0	1	1	2	1	2	1	4	1	5	1	4	6	5			C3N-01488_TP	C3N-01488_NB	G	G																c.611C>T	p.Pro204Leu	p.P204L	ENST00000370621	4/44	155	130	25	329	329	0	strelka-varscan-mutect	EYS,missense_variant,p.Pro204Leu,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Pro204Leu,ENST00000370621,NM_001292009.1;EYS,missense_variant,p.Pro204Leu,ENST00000393380,NM_001142801.1;EYS,missense_variant,p.Pro204Leu,ENST00000342421,NM_198283.1;EYS,missense_variant,p.Pro101Leu,ENST00000471279,;EYS,non_coding_transcript_exon_variant,,ENST00000489873,;	A	ENST00000370621	Transcript	missense_variant	1138/10485	611/9498	204/3165	P/L	cCt/cTt	COSM451726,COSM451727	1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	tolerated(0.18)		4/44		Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,SMART_domains:SM00181											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	80	65494800	65494800	G	A	1	0	0	0	0	1	0	0	0	5200	1000	35	3		3	EYS	6	65494800	Missense_Mutation	SNP	G	C3N-01488_TP	10160889	65494800	105311179	207	26171											
MTFR2	0	.	GRCh38	chr6	136239637	136239637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcacaaatattattaGatcctggttgtacgggagga	12	12	11	6	1	1	2	1	1	0	1	2	4	2	4	1	3	1	2	1	3	5	5	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.698C>A	p.Ser233Tyr	p.S233Y	ENST00000420702	6/8	180	150	30	403	403	0	strelka-varscan-mutect	MTFR2,missense_variant,p.Ser233Tyr,ENST00000420702,NM_001099286.1;MTFR2,missense_variant,p.Ser233Tyr,ENST00000451457,NM_138419.3;MTFR2,missense_variant,p.Ser190Tyr,ENST00000418509,;MTFR2,upstream_gene_variant,,ENST00000532958,;MTFR2,3_prime_UTR_variant,,ENST00000367784,NM_001318738.1;	T	ENST00000420702	Transcript	missense_variant	1088/1793	698/1158	233/385	S/Y	tCt/tAt		1		-1	MTFR2	HGNC	HGNC:21115	protein_coding	YES	CCDS5176.1	ENSP00000395232	Q6P444		UPI000004FA2A	NM_001099286.1	tolerated(0.31)		6/8		Pfam_domain:PF05308,hmmpanther:PTHR14215,hmmpanther:PTHR14215:SF2																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	80	136239637	136239637	G	T	1	0	0	0	0	1	0	0	0	9913	942	33	2		2	MTFR2	6	136239637	Missense_Mutation	SNP	G	C3N-01488_TP	70744837	136239637	34566342	208	26172											
HIVEP2	0	.	GRCh38	chr6	142764809	142764809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacttgtacctttcgttttGaaggcaaagttacataactt	12	15	7	7	1	0	2	0	1	0	1	1	2	0	2	1	1	3	4	1	1	5	8	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.5508C>T	p.=	p.F1836F	ENST00000367603	7/10	142	121	21	259	259	0	strelka-varscan-mutect	HIVEP2,synonymous_variant,p.=,ENST00000367603,NM_006734.3;HIVEP2,synonymous_variant,p.=,ENST00000367604,;HIVEP2,synonymous_variant,p.=,ENST00000012134,;	A	ENST00000367603	Transcript	synonymous_variant	6251/9723	5508/7341	1836/2446	F	ttC/ttT		1		-1	HIVEP2	HGNC	HGNC:4921	protein_coding	YES	CCDS43510.1	ENSP00000356575	P31629		UPI00004708DD	NM_006734.3			7/10		PROSITE_profiles:PS50157,hmmpanther:PTHR23233:SF53,hmmpanther:PTHR23233,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	80	142764809	142764809	G	A	1	0	0	0	0	0	0	0	1	7076	1281	45	3		3	HIVEP2	6	142764809	Silent	SNP	G	C3N-01488_TP	6525172	142764809	28041170	209	26173											
TIAM2	0	.	GRCh38	chr6	155256650	155256650	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggactccaagagcacttcTcccgggaaatacccacaccc	12	5	7	17	1	1	1	0	0	1	1	3	3	2	3	4	2	2	1	4	2	3	2	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.4635T>A	p.=	p.S1545S	ENST00000461783	29/29	304	250	54	508	508	0	strelka-varscan-mutect	TIAM2,synonymous_variant,p.=,ENST00000461783,;TIAM2,synonymous_variant,p.=,ENST00000318981,NM_012454.3;TIAM2,synonymous_variant,p.=,ENST00000360366,;TIAM2,synonymous_variant,p.=,ENST00000529824,;TIAM2,synonymous_variant,p.=,ENST00000528391,;TIAM2,synonymous_variant,p.=,ENST00000456877,;TIAM2,synonymous_variant,p.=,ENST00000275246,NM_001010927.2;TIAM2,downstream_gene_variant,,ENST00000528535,;TFB1M,downstream_gene_variant,,ENST00000367166,NM_016020.3;RP11-477D19.2,non_coding_transcript_exon_variant,,ENST00000435295,;TFB1M,downstream_gene_variant,,ENST00000468889,;TFB1M,downstream_gene_variant,,ENST00000489874,;TFB1M,downstream_gene_variant,,ENST00000495806,;TFB1M,downstream_gene_variant,,ENST00000470239,;TIAM2,non_coding_transcript_exon_variant,,ENST00000537845,;	A	ENST00000461783	Transcript	synonymous_variant	5908/6981	4635/5106	1545/1701	S	tcT/tcA		1		1	TIAM2	HGNC	HGNC:11806	protein_coding	YES	CCDS34558.1	ENSP00000437188	Q8IVF5		UPI00004DF8BE				29/29		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF118																	LOW		SNV	2			1										PASS		.	.												A	2	1	80	155256650	155256650	T	A	1	0	0	0	0	0	0	0	1	16325	1538	54	4		4	TIAM2	6	155256650	Silent	SNP	T	C3N-01488_TP	12491841	155256650	15549329	210	26174											
MAP3K4	0	.	GRCh38	chr6	161092043	161092043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgttcgtttgatgtctgggGagtttagacagaagatagga	10	14	14	3	1	1	4	0	1	1	3	2	6	1	6	0	3	0	3	0	3	3	6	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.3169G>C	p.Glu1057Gln	p.E1057Q	ENST00000392142	13/27	137	123	14	294	294	0	strelka-varscan-mutect	MAP3K4,missense_variant,p.Glu1057Gln,ENST00000392142,NM_005922.3,NM_001291958.1;MAP3K4,missense_variant,p.Glu1057Gln,ENST00000366920,NM_001301072.1;MAP3K4,missense_variant,p.Glu1057Gln,ENST00000366919,NM_006724.3;MAP3K4,missense_variant,p.Glu1057Gln,ENST00000348824,;MAP3K4,missense_variant,p.Glu1057Gln,ENST00000544041,;MAP3K4,3_prime_UTR_variant,,ENST00000490904,;MAP3K4,upstream_gene_variant,,ENST00000543421,;	C	ENST00000392142	Transcript	missense_variant	3317/5490	3169/4827	1057/1608	E/Q	Gag/Cag		1		1	MAP3K4	HGNC	HGNC:6856	protein_coding	YES	CCDS34565.1	ENSP00000375986	Q9Y6R4		UPI00004574E1	NM_005922.3,NM_001291958.1	deleterious(0.01)		13/27																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	80	161092043	161092043	G	C	1	0	0	0	0	1	0	0	0	9175	1175	41	4		4	MAP3K4	6	161092043	Missense_Mutation	SNP	G	C3N-01488_TP	5835393	161092043	9713936	211	26175											
SFT2D1	0	.	GRCh38	chr6	166330180	166330180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagaatagaaaagaaaacgCcacatacgaagcagatggca	21	3	9	8	2	0	4	0	0	0	4	0	5	0	4	1	1	3	2	1	1	9	2	rs772038544		C3N-01488_TP	C3N-01488_NB	C	C																c.131G>T	p.Gly44Val	p.G44V	ENST00000361731	2/8	102	87	15	167	167	0	strelka-mutect	SFT2D1,missense_variant,p.Gly44Val,ENST00000361731,NM_145169.2;SFT2D1,non_coding_transcript_exon_variant,,ENST00000487841,;SFT2D1,non_coding_transcript_exon_variant,,ENST00000478705,;SFT2D1,non_coding_transcript_exon_variant,,ENST00000488773,;SFT2D1,upstream_gene_variant,,ENST00000494682,;HNRNPA1P49,upstream_gene_variant,,ENST00000421336,;	A	ENST00000361731	Transcript	missense_variant	241/1079	131/480	44/159	G/V	gGc/gTc	rs772038544	1		-1	SFT2D1	HGNC	HGNC:21102	protein_coding	YES	CCDS5292.1	ENSP00000354590	Q8WV19		UPI00000722B1	NM_145169.2	deleterious(0)		2/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR23137:SF7,hmmpanther:PTHR23137,Pfam_domain:PF04178																	MODERATE	1	SNV	1			1										PASS		rs772038544	.												A	3	1	80	166330180	166330180	C	A	1	0	0	0	0	1	0	0	0	14445	739	26	2		2	SFT2D1	6	166330180	Missense_Mutation	SNP	C	C3N-01488_TP	5238137	166330180	4475799	212	26176											
CYP2W1	0	.	GRCh38	chr7	984512	984512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaagaggcgctggcgggccCcgggcaggagctggccgacc	7	2	18	14	4	0	1	0	0	0	1	0	3	0	2	4	6	1	3	4	6	1	0	rs749614470		C3N-01488_TP	C3N-01488_NB	C	C																c.275C>A	p.Pro92His	p.P92H	ENST00000308919	2/9	180	146	34	221	221	0	strelka-varscan-mutect	CYP2W1,missense_variant,p.Pro36His,ENST00000340150,;CYP2W1,missense_variant,p.Pro92His,ENST00000308919,NM_017781.2;CYP2W1,upstream_gene_variant,,ENST00000415893,;CYP2W1,upstream_gene_variant,,ENST00000462453,;CYP2W1,upstream_gene_variant,,ENST00000468456,;	A	ENST00000308919	Transcript	missense_variant	288/2304	275/1473	92/490	P/H	cCc/cAc	rs749614470	1		1	CYP2W1	HGNC	HGNC:20243	protein_coding	YES	CCDS5319.2	ENSP00000310149	Q8TAV3		UPI000013C59A	NM_017781.2	tolerated(0.55)		2/9		hmmpanther:PTHR24300:SF183,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463																	MODERATE	1	SNV	1			1										PASS		rs749614470	.												A	3	1	80	984512	984512	C	A	1	0	0	0	0	1	0	0	0	3979	623	22	2		2	CYP2W1	7	984512	Missense_Mutation	SNP	C	C3N-01488_TP		984512	158361461	213	26177											
AP5Z1	0	.	GRCh38	chr7	4790569	4790569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaatggtctctgcagcaGggcgagcctcgtcaccagcg	7	7	14	13	4	2	1	1	1	1	0	4	2	2	1	2	2	4	2	2	2	1	0	rs201798269		C3N-01488_TP	C3N-01488_NB	G	G																c.1916G>T	p.Arg639Met	p.R639M	ENST00000348624	15/17	173	139	34	232	232	0	strelka-varscan-mutect	AP5Z1,missense_variant,p.Arg639Met,ENST00000348624,NM_014855.2;MIR4656,upstream_gene_variant,,ENST00000579503,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000490487,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000496303,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000477680,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000469614,;AP5Z1,downstream_gene_variant,,ENST00000477454,;	T	ENST00000348624	Transcript	missense_variant	2010/2901	1916/2424	639/807	R/M	aGg/aTg	rs201798269	1		1	AP5Z1	HGNC	HGNC:22197	protein_coding	YES	CCDS47528.1	ENSP00000297562	O43299		UPI00003E5903	NM_014855.2	deleterious(0)		15/17		hmmpanther:PTHR12181:SF29,hmmpanther:PTHR12181,Gene3D:1.25.10.10																	MODERATE	1	SNV	5			1										PASS		rs201798269	.												T	3	4	80	4790569	4790569	G	T	1	0	0	0	0	1	0	0	0	874	1000	35	2		2	AP5Z1	7	4790569	Missense_Mutation	SNP	G	C3N-01488_TP	3806057	4790569	154555404	214	26178											
AGMO	0	.	GRCh38	chr7	15544814	15544814	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtagccaaagtcaactcCtaagaaggctgaataccaag	16	7	9	9	0	1	2	1	1	0	1	2	2	2	2	3	1	3	3	3	1	9	4	rs188343828		C3N-01488_TP	C3N-01488_NB	C	C																c.367G>T	p.Gly123Ter	p.G123*	ENST00000342526	3/13	149	133	16	180	180	0	strelka-varscan-mutect	AGMO,stop_gained,p.Gly123Ter,ENST00000342526,NM_001004320.1;	A	ENST00000342526	Transcript	stop_gained	537/2475	367/1338	123/445	G/*	Gga/Tga	rs188343828	1		-1	AGMO	HGNC	HGNC:33784	protein_coding	YES	CCDS34604.1	ENSP00000341662	Q6ZNB7	X5D773	UPI0000050343	NM_001004320.1			3/13		Pfam_domain:PF04116,hmmpanther:PTHR21624,hmmpanther:PTHR21624:SF1																	HIGH	1	SNV	1			1										PASS		rs188343828	.												A	4	1	80	15544814	15544814	C	A	1	0	0	0	0	0	1	0	0	463	690	24	2		2	AGMO	7	15544814	Nonsense_Mutation	SNP	C	C3N-01488_TP	10754245	15544814	143801159	215	26179											
EVX1	0	.	GRCh38	chr7	27246170	27246170	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccgcggcccgaactgctGtgcgccttccgccacccgcc	4	6	10	21	6	0	0	0	0	0	0	1	1	1	0	7	1	4	1	7	1	2	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.969G>T	p.=	p.L323L	ENST00000496902	3/3	313	240	73	366	365	1	strelka-varscan-mutect	EVX1,synonymous_variant,p.=,ENST00000496902,NM_001989.4,NM_001304519.1;EVX1,3_prime_UTR_variant,,ENST00000580535,;EVX1,3_prime_UTR_variant,,ENST00000222761,;RP1-170O19.17,upstream_gene_variant,,ENST00000523608,;EVX1-AS,intron_variant,,ENST00000517726,;EVX1-AS,upstream_gene_variant,,ENST00000519050,;EVX1-AS,upstream_gene_variant,,ENST00000519218,;EVX1,upstream_gene_variant,,ENST00000518886,;	T	ENST00000496902	Transcript	synonymous_variant	1300/2955	969/1224	323/407	L	ctG/ctT		1		1	EVX1	HGNC	HGNC:3506	protein_coding	YES	CCDS5413.1	ENSP00000419266	P49640		UPI000012A2AD	NM_001989.4,NM_001304519.1			3/3		hmmpanther:PTHR24329:SF246,hmmpanther:PTHR24329																	LOW	1	SNV	1			1										PASS		rs996765710	.												T	2	4	80	27246170	27246170	G	T	1	0	0	0	0	0	0	0	1	5161	1364	48	2		2	EVX1	7	27246170	Silent	SNP	G	C3N-01488_TP	11701356	27246170	132099803	216	26180											
TBX20	0	.	GRCh38	chr7	35253585	35253585	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggcgttggcccgagaGgagagttggggcttggggga	8	6	22	5	2	0	3	0	0	0	3	0	7	0	4	1	7	0	3	1	7	1	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.36C>A	p.=	p.S12S	ENST00000408931	1/8	205	160	45	235	235	0	strelka-varscan-mutect	TBX20,synonymous_variant,p.=,ENST00000408931,NM_001077653.2;AC009531.2,downstream_gene_variant,,ENST00000442323,;TBX20,non_coding_transcript_exon_variant,,ENST00000492961,;	T	ENST00000408931	Transcript	synonymous_variant	563/1871	36/1344	12/447	S	tcC/tcA		1		-1	TBX20	HGNC	HGNC:11598	protein_coding	YES	CCDS43568.1	ENSP00000386170	Q9UMR3		UPI00004B23D3	NM_001077653.2			1/8		hmmpanther:PTHR11267																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	80	35253585	35253585	G	T	1	0	0	0	0	0	0	0	1	16061	987	35	2		2	TBX20	7	35253585	Silent	SNP	G	C3N-01488_TP	8007415	35253585	124092388	217	26181											
OGDH	0	.	GRCh38	chr7	44696112	44696112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcacattaagcactggctgGactctccctggcctggtgag	7	10	12	12	0	1	1	0	1	1	0	2	2	1	2	2	4	2	3	2	4	1	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1756G>T	p.Asp586Tyr	p.D586Y	ENST00000222673	13/23	171	135	36	199	198	1	strelka-varscan-mutect	OGDH,missense_variant,p.Asp586Tyr,ENST00000222673,NM_002541.3;OGDH,missense_variant,p.Asp586Tyr,ENST00000631326,;OGDH,missense_variant,p.Asp582Tyr,ENST00000449767,NM_001165036.1;OGDH,missense_variant,p.Asp597Tyr,ENST00000447398,;OGDH,missense_variant,p.Asp601Tyr,ENST00000444676,;OGDH,missense_variant,p.Asp436Tyr,ENST00000439616,;	T	ENST00000222673	Transcript	missense_variant	1798/4181	1756/3072	586/1023	D/Y	Gac/Tac		1		1	OGDH	HGNC	HGNC:8124	protein_coding	YES	CCDS34627.1	ENSP00000222673	Q02218		UPI000006D5FE	NM_002541.3	deleterious(0)		13/23		Gene3D:3.40.50.970,PIRSF_domain:PIRSF000157,hmmpanther:PTHR23152,hmmpanther:PTHR23152:SF7,Superfamily_domains:SSF52518,TIGRFAM_domain:TIGR00239																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	44696112	44696112	G	T	1	0	0	0	0	1	0	0	0	10913	1174	41	2		2	OGDH	7	44696112	Missense_Mutation	SNP	G	C3N-01488_TP	9442527	44696112	114649861	218	26182											
COBL	0	.	GRCh38	chr7	51043491	51043491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagtcttcctggtctgtgGcccacttgtctttgtatttc	3	18	9	11	0	3	0	0	0	3	0	5	0	4	0	2	2	1	2	2	2	1	5	rs758890126		C3N-01488_TP	C3N-01488_NB	G	G																c.1469C>A	p.Ala490Asp	p.A490D	ENST00000395542	9/14	494	418	76	565	565	0	strelka-varscan-mutect	COBL,missense_variant,p.Ala490Asp,ENST00000395542,NM_001287436.1;COBL,missense_variant,p.Ala433Asp,ENST00000265136,NM_015198.3;COBL,missense_variant,p.Ala318Asp,ENST00000431948,;COBL,missense_variant,p.Ala325Asp,ENST00000445054,;COBL,missense_variant,p.Ala409Asp,ENST00000452534,;	T	ENST00000395542	Transcript	missense_variant	1654/5339	1469/3816	490/1271	A/D	gCc/gAc	rs758890126	1		-1	COBL	HGNC	HGNC:22199	protein_coding	YES	CCDS75602.1	ENSP00000378912	O75128		UPI0001F992C3	NM_001287436.1	deleterious(0)		9/14		hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1																	MODERATE	1	SNV	1			1										PASS		rs758890126	.												T	3	4	80	51043491	51043491	G	T	1	0	0	0	0	1	0	0	0	3442	1203	42	2		2	COBL	7	51043491	Missense_Mutation	SNP	G	C3N-01488_TP	6347379	51043491	108302482	219	26183											
POM121L12	0	.	GRCh38	chr7	53035687	53035687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccatgggcgctgcagctCcggccgagtccgcagacctc	6	5	13	17	4	0	1	0	0	0	1	3	2	2	1	5	2	3	4	5	2	0	0	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.16C>A	p.Pro6Thr	p.P6T	ENST00000408890	1/1	66	50	16	101	100	1	strelka-varscan-mutect	POM121L12,missense_variant,p.Pro6Thr,ENST00000408890,NM_182595.3;	A	ENST00000408890	Transcript	missense_variant	46/1283	16/891	6/296	P/T	Ccg/Acg		1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3	tolerated_low_confidence(0.39)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30																	MODERATE	1	SNV				1										PASS		rs1481598999	.												A	3	1	80	53035687	53035687	C	A	1	0	0	0	0	1	0	0	0	12352	855	30	2		2	POM121L12	7	53035687	Missense_Mutation	SNP	C	C3N-01488_TP	1992196	53035687	106310286	220	26184											
ZNF713	0	.	GRCh38	chr7	55939953	55939953	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcgggagaaattatgtGaatataaatgtgagcaaact	17	11	9	4	1	0	3	0	2	0	1	1	4	0	3	0	1	3	1	0	1	8	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1279G>T	p.Glu427Ter	p.E427*	ENST00000429591	7/7	83	60	23	124	124	0	strelka-varscan-mutect	ZNF713,stop_gained,p.Glu427Ter,ENST00000429591,NM_182633.2;ZNF713,stop_gained,p.Glu414Ter,ENST00000633730,;RP11-15K19.2,intron_variant,,ENST00000426595,;	T	ENST00000429591	Transcript	stop_gained	2067/4339	1279/1332	427/443	E/*	Gaa/Taa		1		1	ZNF713	HGNC	HGNC:22043	protein_coding	YES		ENSP00000416662		A0A0M3HEQ9	UPI0000140F17	NM_182633.2			7/7		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF80																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	80	55939953	55939953	G	T	1	0	0	0	0	0	1	0	0	18692	1291	45	2		2	ZNF713	7	55939953	Nonsense_Mutation	SNP	G	C3N-01488_TP	2904266	55939953	103406020	221	26185											
ZNF727	0	.	GRCh38	chr7	64069516	64069516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttctaataaaacaggtCttgctatctttaagccagac	12	16	5	8	0	3	1	0	0	3	1	3	1	3	1	1	1	3	1	1	1	5	9	rs762329481		C3N-01488_TP	C3N-01488_NB	C	C																c.133C>T	p.Leu45Phe	p.L45F	ENST00000456806	3/4	259	217	42	363	363	0	strelka-varscan-mutect	ZNF727,missense_variant,p.Leu45Phe,ENST00000456806,NM_001159522.1;	T	ENST00000456806	Transcript	missense_variant,splice_region_variant	312/1679	133/1500	45/499	L/F	Ctt/Ttt	rs762329481,COSM5672944	1		1	ZNF727	HGNC	HGNC:22785	protein_coding	YES	CCDS55113.1	ENSP00000485448	A8MUV8		UPI0001A23134	NM_001159522.1	deleterious(0.04)		3/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24384:SF98,hmmpanther:PTHR24384,SMART_domains:SM00349,Superfamily_domains:0044637											0,1						MODERATE	1	SNV	4		0,1	1										PASS		rs762329481	.												T	3	4	80	64069516	64069516	C	T	1	0	0	0	0	1	0	0	0	18701	927	32	3		3	ZNF727	7	64069516	Missense_Mutation	SNP	C	C3N-01488_TP	8129563	64069516	95276457	222	26186											
VKORC1L1	0	.	GRCh38	chr7	65954121	65954121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctcatgacgtcctccAtcatgtcggtcgtggggtcc	5	12	11	13	3	2	2	2	2	0	0	8	2	6	2	4	3	0	0	4	3	0	0	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.242A>G	p.His81Arg	p.H81R	ENST00000434382	2/2	73	59	14	118	118	0	strelka-varscan-mutect	VKORC1L1,missense_variant,p.Ile118Val,ENST00000360768,NM_173517.4;VKORC1L1,missense_variant,p.His81Arg,ENST00000434382,NM_001284342.1;	G	ENST00000434382	Transcript	missense_variant	245/1541	242/534	81/177	H/R	cAt/cGt		1		1	VKORC1L1	HGNC	HGNC:21492	protein_coding	YES	CCDS64663.1	ENSP00000403077	Q8N0U8		UPI0000423DF4	NM_001284342.1	tolerated_low_confidence(0.34)		2/2																			MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	80	65954121	65954121	A	G	1	0	0	0	0	1	0	0	0	17720	217	8	5		5	VKORC1L1	7	65954121	Missense_Mutation	SNP	A	C3N-01488_TP	1884605	65954121	93391852	223	26187											
TYW1	0	.	GRCh38	chr7	67098693	67098693	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttccagcttcctggtcacaAacgcacaatttcctgcggaa	10	11	7	13	2	1	0	1	0	0	0	4	1	4	1	3	2	3	2	3	2	3	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1537A>T	p.Asn513Tyr	p.N513Y	ENST00000359626	12/16	127	95	32	157	157	0	strelka-varscan-mutect	TYW1,missense_variant,p.Asn513Tyr,ENST00000359626,NM_018264.3;TYW1,missense_variant,p.Asn449Tyr,ENST00000615572,;TYW1,3_prime_UTR_variant,,ENST00000361660,;TYW1,non_coding_transcript_exon_variant,,ENST00000495971,;	T	ENST00000359626	Transcript	missense_variant	1701/3348	1537/2199	513/732	N/Y	Aac/Tac		1		1	TYW1	HGNC	HGNC:25598	protein_coding	YES	CCDS5538.1	ENSP00000352645	Q9NV66		UPI00003674A9	NM_018264.3	deleterious(0)		12/16		Gene3D:3.20.20.70,Pfam_domain:PF04055,hmmpanther:PTHR13930,hmmpanther:PTHR13930:SF0,Superfamily_domains:SSF102114																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	67098693	67098693	A	T	1	0	0	0	0	1	0	0	0	17333	14	1	4		4	TYW1	7	67098693	Missense_Mutation	SNP	A	C3N-01488_TP	1144572	67098693	92247280	224	26188											
CALN1	0	.	GRCh38	chr7	72106184	72106184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgcatgatgatggccaGctccacctcgcttggcatgt	6	10	12	13	2	0	2	0	2	0	0	2	2	1	2	3	2	2	5	3	2	0	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.355C>A	p.Leu119Met	p.L119M	ENST00000395275	4/7	215	180	35	184	184	0	strelka-varscan-mutect	CALN1,missense_variant,p.Leu119Met,ENST00000395275,NM_031468.3;CALN1,missense_variant,p.Leu77Met,ENST00000329008,NM_001017440.2;CALN1,missense_variant,p.Leu77Met,ENST00000395276,;CALN1,missense_variant,p.Leu77Met,ENST00000431984,;CALN1,missense_variant,p.Leu77Met,ENST00000446128,;ABCF2P2,downstream_gene_variant,,ENST00000450549,;	T	ENST00000395275	Transcript	missense_variant	744/9459	355/786	119/261	L/M	Ctg/Atg		1		-1	CALN1	HGNC	HGNC:13248	protein_coding	YES	CCDS47603.1	ENSP00000378690	Q9BXU9		UPI0000D4B903	NM_031468.3	deleterious(0)		4/7		PROSITE_profiles:PS50222,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF51,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	72106184	72106184	G	T	1	0	0	0	0	1	0	0	0	2282	962	34	2		2	CALN1	7	72106184	Missense_Mutation	SNP	G	C3N-01488_TP	5007491	72106184	87239789	225	26189											
ELN	0	.	GRCh38	chr7	74056384	74056384	+	Missense_Mutation	SNP	G	G	T																															ctggagtcgcaggtgtccctGgtgtcggaggtgttcccgga																								rs2071307		C3N-01488_TP	C3N-01488_NB	G	G																c.1264G>T	p.Gly422Cys	p.G422C	ENST00000358929	20/34	571	464	107	649	646	3	strelka-varscan-mutect	ELN,missense_variant,p.Gly422Cys,ENST00000358929,NM_001278939.1;ELN,missense_variant,p.Gly422Cys,ENST00000252034,NM_000501.3;ELN,missense_variant,p.Gly427Cys,ENST00000357036,NM_001081754.2;ELN,missense_variant,p.Gly427Cys,ENST00000429192,NM_001081753.2;ELN,missense_variant,p.Gly408Cys,ENST00000380584,NM_001278916.1;ELN,missense_variant,p.Gly412Cys,ENST00000458204,NM_001278917.1;ELN,missense_variant,p.Gly417Cys,ENST00000414324,NM_001278914.1;ELN,missense_variant,p.Gly422Cys,ENST00000380576,NM_001081755.2;ELN,missense_variant,p.Gly412Cys,ENST00000380575,NM_001081752.2;ELN,missense_variant,p.Gly305Cys,ENST00000380553,;ELN,missense_variant,p.Gly422Cys,ENST00000445912,NM_001278912.1;ELN,missense_variant,p.Gly422Cys,ENST00000320399,;ELN,missense_variant,p.Gly422Cys,ENST00000380562,NM_001278915.1;ELN,intron_variant,,ENST00000621115,NM_001278918.1;ELN,intron_variant,,ENST00000320492,NM_001278913.1;ELN,downstream_gene_variant,,ENST00000438906,;ELN,downstream_gene_variant,,ENST00000438880,;CTB-51J22.1,downstream_gene_variant,,ENST00000435932,;ELN,downstream_gene_variant,,ENST00000466878,;ELN,downstream_gene_variant,,ENST00000493839,;ELN,downstream_gene_variant,,ENST00000492210,;	T	ENST00000358929	Transcript	missense_variant	1663/3967	1264/2361	422/786	G/C	Ggt/Tgt	rs2071307,CM068556	1		1	ELN	HGNC	HGNC:3327	protein_coding	YES	CCDS75616.1	ENSP00000351807		F8WAH6	UPI0001AE70FA	NM_001278939.1	deleterious_low_confidence(0)		20/34		Low_complexity_(Seg):seg,hmmpanther:PTHR24018:SF4,hmmpanther:PTHR24018										benign		2.06738682490397e+111					MODERATE		SNV	5		1,1	1										PASS		rs2071307	.												T	3	4	80	74056384	74056384	G	T	1	0	0	0	0	1	0	0	0	4906	1348	47	2		2	ELN	7	74056384	Missense_Mutation	SNP	G	C3N-01488_TP	1950200	74056384	85289589	226	26190	559	2									
ELN	0	.	GRCh38	chr7	74056385	74056385	+	Missense_Mutation	SNP	G	G	T																															tggagtcgcaggtgtccctgGtgtcggaggtgttcccggag																								novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1265G>T	p.Gly422Val	p.G422V	ENST00000358929	20/34	564	460	104	653	653	0	strelka-varscan-mutect	ELN,missense_variant,p.Gly422Val,ENST00000358929,NM_001278939.1;ELN,missense_variant,p.Gly422Val,ENST00000252034,NM_000501.3;ELN,missense_variant,p.Gly427Val,ENST00000357036,NM_001081754.2;ELN,missense_variant,p.Gly427Val,ENST00000429192,NM_001081753.2;ELN,missense_variant,p.Gly408Val,ENST00000380584,NM_001278916.1;ELN,missense_variant,p.Gly412Val,ENST00000458204,NM_001278917.1;ELN,missense_variant,p.Gly417Val,ENST00000414324,NM_001278914.1;ELN,missense_variant,p.Gly422Val,ENST00000380576,NM_001081755.2;ELN,missense_variant,p.Gly412Val,ENST00000380575,NM_001081752.2;ELN,missense_variant,p.Gly305Val,ENST00000380553,;ELN,missense_variant,p.Gly422Val,ENST00000445912,NM_001278912.1;ELN,missense_variant,p.Gly422Val,ENST00000320399,;ELN,missense_variant,p.Gly422Val,ENST00000380562,NM_001278915.1;ELN,intron_variant,,ENST00000621115,NM_001278918.1;ELN,intron_variant,,ENST00000320492,NM_001278913.1;ELN,downstream_gene_variant,,ENST00000438906,;ELN,downstream_gene_variant,,ENST00000438880,;CTB-51J22.1,downstream_gene_variant,,ENST00000435932,;ELN,downstream_gene_variant,,ENST00000466878,;ELN,downstream_gene_variant,,ENST00000493839,;ELN,downstream_gene_variant,,ENST00000492210,;	T	ENST00000358929	Transcript	missense_variant	1664/3967	1265/2361	422/786	G/V	gGt/gTt		1		1	ELN	HGNC	HGNC:3327	protein_coding	YES	CCDS75616.1	ENSP00000351807		F8WAH6	UPI0001AE70FA	NM_001278939.1	deleterious_low_confidence(0.01)		20/34		Low_complexity_(Seg):seg,hmmpanther:PTHR24018:SF4,hmmpanther:PTHR24018																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	80	74056385	74056385	G	T	1	0	0	0	0	1	0	0	0	4906	1261	44	2		2	ELN	7	74056385	Missense_Mutation	SNP	G	C3N-01488_TP	1	74056385	85289588	227	26191	559	2									
CACNA2D1	0	.	GRCh38	chr7	81984666	81984666	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttattgtctcttctagtttGgcttttatatagtaaaaact	10	20	6	5	0	2	0	0	0	2	0	3	0	2	0	0	1	1	4	0	1	8	10	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1842C>G	p.=	p.A614A	ENST00000356860	22/39	338	261	77	463	463	0	strelka-varscan-mutect	CACNA2D1,synonymous_variant,p.=,ENST00000356860,NM_000722.3;CACNA2D1,synonymous_variant,p.=,ENST00000356253,;CACNA2D1,synonymous_variant,p.=,ENST00000443883,;	C	ENST00000356860	Transcript	synonymous_variant	2181/7563	1842/3276	614/1091	A	gcC/gcG		1		-1	CACNA2D1	HGNC	HGNC:1399	protein_coding	YES	CCDS5598.1	ENSP00000349320	P54289		UPI00003674CD	NM_000722.3			22/39		hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	80	81984666	81984666	G	C	1	0	0	0	0	0	0	0	1	2236	1335	47	4		4	CACNA2D1	7	81984666	Silent	SNP	G	C3N-01488_TP	7928281	81984666	77361307	228	26192											
CDK14	0	.	GRCh38	chr7	90984157	90984157	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctctctaggggagtaggTtgcatctttgttgaaatgat	8	16	11	6	0	3	2	0	2	3	0	5	3	3	3	0	3	1	4	0	3	3	5	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.957T>C	p.=	p.G319G	ENST00000380050	10/15	178	154	24	247	247	0	strelka-mutect	CDK14,synonymous_variant,p.=,ENST00000406263,NM_001287136.1;CDK14,synonymous_variant,p.=,ENST00000380050,NM_001287135.1;CDK14,synonymous_variant,p.=,ENST00000265741,NM_012395.3;CDK14,synonymous_variant,p.=,ENST00000436577,NM_001287137.1;CDK14,downstream_gene_variant,,ENST00000460493,;	C	ENST00000380050	Transcript	synonymous_variant	1088/4995	957/1410	319/469	G	ggT/ggC		1		1	CDK14	HGNC	HGNC:8883	protein_coding	YES	CCDS75626.1	ENSP00000369390	O94921		UPI000013EAF4	NM_001287135.1			10/15		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF154,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	80	90984157	90984157	T	C	1	0	0	0	0	0	0	0	1	2834	1712	60	5		5	CDK14	7	90984157	Silent	SNP	T	C3N-01488_TP	8999491	90984157	68361816	229	26193											
SAMD9L	0	.	GRCh38	chr7	93133613	93133613	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatggctctttgccctatAggtgaccagattgatcactt	8	14	9	10	0	2	4	1	3	1	1	2	4	2	4	2	2	1	1	2	2	2	5	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.2359T>A	p.Tyr787Asn	p.Y787N	ENST00000318238	5/5	206	152	54	272	271	1	strelka-varscan-mutect	SAMD9L,missense_variant,p.Tyr787Asn,ENST00000318238,NM_001303500.1,NM_152703.3;SAMD9L,missense_variant,p.Tyr787Asn,ENST00000411955,NM_001303496.1,NM_001303498.1;SAMD9L,missense_variant,p.Tyr787Asn,ENST00000437805,NM_001303497.1;SAMD9L,intron_variant,,ENST00000610760,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000439952,;SAMD9L,downstream_gene_variant,,ENST00000414791,;	T	ENST00000318238	Transcript	missense_variant	3576/7134	2359/4755	787/1584	Y/N	Tat/Aat		1		-1	SAMD9L	HGNC	HGNC:1349	protein_coding	YES	CCDS34681.1	ENSP00000326247	Q8IVG5		UPI000020F567	NM_001303500.1,NM_152703.3	deleterious(0.01)		5/5		hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18,Gene3D:3.40.50.300																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	93133613	93133613	A	T	1	0	0	0	0	1	0	0	0	14087	420	15	4		4	SAMD9L	7	93133613	Missense_Mutation	SNP	A	C3N-01488_TP	2149456	93133613	66212360	230	26194											
NPTX2	0	.	GRCh38	chr7	98627310	98627310	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccccctggcaccccatcaAgcccgggggcgtgctgatcc	5	5	13	18	2	1	1	1	1	0	0	2	1	2	1	6	4	2	2	6	4	1	0	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1034A>T	p.Lys345Met	p.K345M	ENST00000265634	4/5	179	154	25	226	226	0	strelka-varscan-mutect	NPTX2,missense_variant,p.Lys345Met,ENST00000265634,NM_002523.2;NPTX2,downstream_gene_variant,,ENST00000466102,;	T	ENST00000265634	Transcript	missense_variant	1199/2700	1034/1296	345/431	K/M	aAg/aTg		1		1	NPTX2	HGNC	HGNC:7953	protein_coding	YES	CCDS5657.1	ENSP00000265634	P47972		UPI000013040F	NM_002523.2	deleterious(0)		4/5		Gene3D:2.60.120.200,Pfam_domain:PF00354,Prints_domain:PR00895,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF1,SMART_domains:SM00159,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs1424885365	.												T	3	4	80	98627310	98627310	A	T	1	0	0	0	0	1	0	0	0	10659	72	3	4		4	NPTX2	7	98627310	Missense_Mutation	SNP	A	C3N-01488_TP	5493697	98627310	60718663	231	26195											
RELN	0	.	GRCh38	chr7	103491999	103491999	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggaatgaaggtcaccacAagaagtggcttcacaaccca	15	6	9	11	1	2	2	2	1	0	1	2	3	2	3	2	3	2	1	2	3	6	2	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.9397T>A	p.Cys3133Ser	p.C3133S	ENST00000428762	58/65	390	336	54	482	482	0	strelka-varscan-mutect	RELN,missense_variant,p.Cys3133Ser,ENST00000424685,;RELN,missense_variant,p.Cys3133Ser,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Cys3133Ser,ENST00000343529,NM_173054.2;CTB-107G13.1,intron_variant,,ENST00000422488,;	T	ENST00000428762	Transcript	missense_variant	9557/11571	9397/10383	3133/3460	C/S	Tgt/Agt		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3	tolerated(0.1)		58/65		hmmpanther:PTHR11841																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	80	103491999	103491999	A	T	1	0	0	0	0	1	0	0	0	13390	130	5	4		4	RELN	7	103491999	Missense_Mutation	SNP	A	C3N-01488_TP	4864689	103491999	55853974	232	26196											
COG5	0	.	GRCh38	chr7	107256767	107256767	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagtttgctcagctgccaGtgggaatgagctctgactgg	8	12	13	8	0	2	2	1	2	1	0	2	3	2	3	1	2	4	4	1	2	3	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1807C>T	p.=	p.L603L	ENST00000297135	16/22	330	263	67	381	380	1	strelka-varscan-mutect	COG5,synonymous_variant,p.=,ENST00000393603,NM_001161520.1;COG5,synonymous_variant,p.=,ENST00000297135,NM_006348.3;COG5,intron_variant,,ENST00000347053,NM_181733.2;COG5,non_coding_transcript_exon_variant,,ENST00000468350,;COG5,non_coding_transcript_exon_variant,,ENST00000462342,;COG5,upstream_gene_variant,,ENST00000464542,;	A	ENST00000297135	Transcript	synonymous_variant	2332/4060	1807/2583	603/860	L	Ctg/Ttg		1		-1	COG5	HGNC	HGNC:14857	protein_coding	YES	CCDS5742.1	ENSP00000297135	Q9UP83		UPI0000246D05	NM_006348.3			16/22		hmmpanther:PTHR13228,hmmpanther:PTHR13228:SF3																	LOW	1	SNV	1			1										PASS		rs1173422961	.												A	2	1	80	107256767	107256767	G	A	1	0	0	0	0	0	0	0	1	3449	1020	36	3		3	COG5	7	107256767	Silent	SNP	G	C3N-01488_TP	3764768	107256767	52089206	233	26197											
DOCK4	0	.	GRCh38	chr7	111994153	111994153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacatagagttgtttccaCatggttccccagtctcttaa	10	13	6	12	0	1	1	0	0	1	1	4	1	3	1	4	1	0	3	4	1	2	5	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.297G>T	p.Met99Ile	p.M99I	ENST00000437633	5/52	101	68	33	166	166	0	strelka-varscan-mutect	DOCK4,missense_variant,p.Met99Ile,ENST00000428084,;DOCK4,missense_variant,p.Met99Ile,ENST00000437633,NM_014705.3;DOCK4,missense_variant,p.Met87Ile,ENST00000445943,;DOCK4,missense_variant,p.Met87Ile,ENST00000494651,;DOCK4,non_coding_transcript_exon_variant,,ENST00000476846,;DOCK4,non_coding_transcript_exon_variant,,ENST00000468571,;	A	ENST00000437633	Transcript	missense_variant	554/6212	297/5901	99/1966	M/I	atG/atT		1		-1	DOCK4	HGNC	HGNC:19192	protein_coding	YES	CCDS47688.1	ENSP00000404179	Q8N1I0		UPI0000D5BB0D	NM_014705.3	tolerated(0.94)		5/52		hmmpanther:PTHR23317:SF75,hmmpanther:PTHR23317,Pfam_domain:PF16172																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	111994153	111994153	C	A	1	0	0	0	0	1	0	0	0	4504	478	17	2		2	DOCK4	7	111994153	Missense_Mutation	SNP	C	C3N-01488_TP	4737386	111994153	47351820	234	26198											
PPP1R3A	0	.	GRCh38	chr7	113879718	113879718	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgccattagttgatcTgaagaggggcaaggtatttg	9	14	12	6	0	1	3	0	2	1	1	2	3	2	3	2	3	1	3	2	3	4	5	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.1374A>T	p.=	p.S458S	ENST00000284601	4/4	188	142	46	274	273	1	strelka-varscan-mutect	PPP1R3A,synonymous_variant,p.=,ENST00000284601,NM_002711.3;PPP1R3A,synonymous_variant,p.=,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;	A	ENST00000284601	Transcript	synonymous_variant	1443/4384	1374/3369	458/1122	S	tcA/tcT		1		-1	PPP1R3A	HGNC	HGNC:9291	protein_coding	YES	CCDS5759.1	ENSP00000284601	Q16821		UPI000013DDAA	NM_002711.3			4/4																			LOW	1	SNV	1			1										PASS		rs775908707	.												A	2	1	80	113879718	113879718	T	A	1	0	0	0	0	0	0	0	1	12492	1567	55	4		4	PPP1R3A	7	113879718	Silent	SNP	T	C3N-01488_TP	1885565	113879718	45466255	235	26199											
ING3	0	.	GRCh38	chr7	120969106	120969106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagaattttcaatggccagGgaaacagttggctattcatc	14	11	9	7	0	2	1	2	0	0	1	3	2	2	2	1	3	1	2	1	3	5	5	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.810G>C	p.Arg270Ser	p.R270S	ENST00000315870	9/12	216	172	44	272	272	0	strelka-varscan-mutect	ING3,missense_variant,p.Arg270Ser,ENST00000315870,NM_019071.2;ING3,missense_variant,p.Arg255Ser,ENST00000431467,;ING3,3_prime_UTR_variant,,ENST00000427726,;ING3,non_coding_transcript_exon_variant,,ENST00000497502,;	C	ENST00000315870	Transcript	missense_variant	958/3777	810/1257	270/418	R/S	agG/agC		1		1	ING3	HGNC	HGNC:14587	protein_coding	YES	CCDS5778.1	ENSP00000320566	Q9NXR8		UPI00000373B3	NM_019071.2	tolerated(0.24)		9/12		hmmpanther:PTHR10333:SF65,hmmpanther:PTHR10333																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	80	120969106	120969106	G	C	1	0	0	0	0	1	0	0	0	7639	1223	43	4		4	ING3	7	120969106	Missense_Mutation	SNP	G	C3N-01488_TP	7089388	120969106	38376867	236	26200											
GRM8	0	.	GRCh38	chr7	126532952	126532952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatttccttctacttacCttttctgctgactgggctgt	4	19	8	10	0	2	1	0	1	2	0	3	1	3	1	2	1	3	3	2	1	3	7			C3N-01488_TP	C3N-01488_NB	C	C																c.2430G>T	p.Lys810Asn	p.K810N	ENST00000339582	9/11	58	47	11	89	89	0	strelka-varscan-mutect	GRM8,missense_variant,p.Lys810Asn,ENST00000339582,NM_000845.2;GRM8,missense_variant,p.Lys810Asn,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Lys318Asn,ENST00000444921,;GRM8,downstream_gene_variant,,ENST00000480995,;GRM8,missense_variant,p.Lys810Asn,ENST00000472701,;GRM8,splice_region_variant,,ENST00000341617,;	A	ENST00000339582	Transcript	missense_variant,splice_region_variant	3239/4057	2430/2727	810/908	K/N	aaG/aaT	COSM3662898,COSM3662899	1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2	tolerated(0.06)		9/11		Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1343682343	.												A	3	1	80	126532952	126532952	C	A	1	0	0	0	0	1	0	0	0	6685	695	24	2		2	GRM8	7	126532952	Missense_Mutation	SNP	C	C3N-01488_TP	5563846	126532952	32813021	237	26201											
CEP41	0	.	GRCh38	chr7	130398910	130398910	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacttccagggtttgcctTgcaggtgaccactgctgagg	6	13	12	10	0	0	2	0	2	0	0	1	2	1	2	3	3	4	3	3	3	1	5	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.1103A>T	p.Gln368Leu	p.Q368L	ENST00000223208	11/11	432	361	71	571	570	1	strelka-varscan-mutect	CEP41,missense_variant,p.Gln368Leu,ENST00000223208,NM_018718.2;CEP41,missense_variant,p.Gln280Leu,ENST00000541543,NM_001257159.1;CEP41,missense_variant,p.Gln296Leu,ENST00000343969,NM_001257158.1;CEP41,downstream_gene_variant,,ENST00000472739,;CEP41,downstream_gene_variant,,ENST00000492389,;CEP41,downstream_gene_variant,,ENST00000475282,;CEP41,downstream_gene_variant,,ENST00000477003,;CEP41,3_prime_UTR_variant,,ENST00000484549,;CEP41,non_coding_transcript_exon_variant,,ENST00000603513,;CEP41,non_coding_transcript_exon_variant,,ENST00000485736,;CEP41,downstream_gene_variant,,ENST00000480206,;	A	ENST00000223208	Transcript	missense_variant	1374/6513	1103/1122	368/373	Q/L	cAa/cTa		1		-1	CEP41	HGNC	HGNC:12370	protein_coding	YES	CCDS5821.1	ENSP00000223208	Q9BYV8		UPI000006D546	NM_018718.2	tolerated(0.05)		11/11																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	130398910	130398910	T	A	1	0	0	0	0	1	0	0	0	2973	1812	63	4		4	CEP41	7	130398910	Missense_Mutation	SNP	T	C3N-01488_TP	3865958	130398910	28947063	238	26202											
PLXNA4	0	.	GRCh38	chr7	132179736	132179736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggttgtccatctgcatCtgcagccgcttcagcgtgag	6	11	11	13	2	3	1	1	1	2	0	5	1	5	1	3	1	4	4	3	1	0	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.3825G>T	p.Gln1275His	p.Q1275H	ENST00000359827	20/32	161	129	32	176	176	0	strelka-varscan-mutect	PLXNA4,missense_variant,p.Gln1275His,ENST00000359827,;PLXNA4,missense_variant,p.Gln1275His,ENST00000321063,NM_020911.1;	A	ENST00000359827	Transcript	missense_variant	4788/13786	3825/5685	1275/1894	Q/H	caG/caT		1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B		deleterious(0)		20/32		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	80	132179736	132179736	C	A	1	0	0	0	0	1	0	0	0	12228	912	32	2		2	PLXNA4	7	132179736	Missense_Mutation	SNP	C	C3N-01488_TP	1780826	132179736	27166237	239	26203											
UBN2	0	.	GRCh38	chr7	139283784	139283784	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccgtcgtgaagttaagtaAtaatccccaactctcctgtt	10	12	6	13	2	1	1	0	1	1	0	4	1	2	1	5	0	1	3	5	0	5	4	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.2879A>G	p.Asn960Ser	p.N960S	ENST00000473989	15/18	341	315	26	453	453	0	strelka-varscan-mutect	UBN2,missense_variant,p.Asn960Ser,ENST00000473989,NM_173569.3;	G	ENST00000473989	Transcript	missense_variant	2879/14444	2879/4044	960/1347	N/S	aAt/aGt		1		1	UBN2	HGNC	HGNC:21931	protein_coding	YES	CCDS43655.2	ENSP00000418648	Q6ZU65		UPI00001D74DF	NM_173569.3	tolerated_low_confidence(1)		15/18																			MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	80	139283784	139283784	A	G	1	0	0	0	0	1	0	0	0	17417	101	4	5		5	UBN2	7	139283784	Missense_Mutation	SNP	A	C3N-01488_TP	7104048	139283784	20062189	240	26204											
MGAM2	0	.	GRCh38	chr7	142183295	142183295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttctggcaatgagacacaGtatctcccattcattagagg	12	12	8	9	0	3	2	1	1	2	2	4	3	3	2	1	2	0	2	1	2	3	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.3846G>T	p.Gln1282His	p.Q1282H	ENST00000477922	33/48	187	144	43	225	225	0	strelka-varscan-mutect	MGAM2,missense_variant,p.Gln1282His,ENST00000477922,NM_001293626.1;MGAM2,non_coding_transcript_exon_variant,,ENST00000496337,;	T	ENST00000477922	Transcript	missense_variant	3900/7867	3846/7548	1282/2515	Q/H	caG/caT		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	tolerated(0.29)		33/48		Pfam_domain:PF01055,Superfamily_domains:SSF51445																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	142183295	142183295	G	T	1	0	0	0	0	1	0	0	0	9500	1020	36	2		2	MGAM2	7	142183295	Missense_Mutation	SNP	G	C3N-01488_TP	2899511	142183295	17162678	241	26205											
MGAM2	0	.	GRCh38	chr7	142196197	142196197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaggggtcatcatcaccCgctccacatttccctcttct	7	11	7	16	2	5	0	3	0	2	0	7	1	7	0	3	2	1	1	3	2	0	2			C3N-01488_TP	C3N-01488_NB	C	C																c.4390C>A	p.Arg1464Ser	p.R1464S	ENST00000477922	38/48	272	235	37	357	357	0	strelka-varscan-mutect	MGAM2,missense_variant,p.Arg1464Ser,ENST00000477922,NM_001293626.1;MGAM2,non_coding_transcript_exon_variant,,ENST00000496337,;	A	ENST00000477922	Transcript	missense_variant	4444/7867	4390/7548	1464/2515	R/S	Cgc/Agc	COSM3745580	1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	deleterious(0.01)		38/48		Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF55,Superfamily_domains:SSF51445											1						MODERATE	1	SNV	5		1	1										PASS		rs1416070278	.												A	3	1	80	142196197	142196197	C	A	1	0	0	0	0	1	0	0	0	9500	652	23	1		1	MGAM2	7	142196197	Missense_Mutation	SNP	C	C3N-01488_TP	12902	142196197	17149776	242	26206											
TAS2R41	0	.	GRCh38	chr7	143478632	143478632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtccctgatcattgatGccgcaaaatttatctccatg	9	15	6	11	1	3	2	1	2	2	0	5	2	4	2	3	0	1	1	3	0	3	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.760G>A	p.Ala254Thr	p.A254T	ENST00000408916	1/1	189	153	36	307	307	0	strelka-varscan-mutect	TAS2R41,missense_variant,p.Ala254Thr,ENST00000408916,NM_176883.2;EPHA1-AS1,intron_variant,,ENST00000429289,;	A	ENST00000408916	Transcript	missense_variant	760/924	760/924	254/307	A/T	Gcc/Acc		1		1	TAS2R41	HGNC	HGNC:18883	protein_coding	YES	CCDS43663.1	ENSP00000386201	P59536		UPI000000D823	NM_176883.2	tolerated(0.1)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF73,hmmpanther:PTHR11394,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												A	3	1	80	143478632	143478632	G	A	1	0	0	0	0	1	0	0	0	15978	1319	46	3		3	TAS2R41	7	143478632	Missense_Mutation	SNP	G	C3N-01488_TP	1282435	143478632	15867341	243	26207											
CNTNAP2	0	.	GRCh38	chr7	147562231	147562231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcggacctctggggcCtctgaaagtttactgcaaca	9	9	12	11	1	2	1	0	1	2	0	2	2	2	2	2	4	4	3	2	4	3	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1871C>A	p.Pro624His	p.P624H	ENST00000361727	12/24	408	304	104	557	557	0	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Pro624His,ENST00000361727,NM_014141.5;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637825,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,;	A	ENST00000361727	Transcript	missense_variant	2389/9896	1871/3996	624/1331	P/H	cCt/cAt		1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	deleterious(0)		12/24		PROSITE_profiles:PS51406,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644,Superfamily_domains:SSF56496																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	147562231	147562231	C	A	1	0	0	0	0	1	0	0	0	3428	681	24	2		2	CNTNAP2	7	147562231	Missense_Mutation	SNP	C	C3N-01488_TP	4083599	147562231	11783742	244	26208											
KCNH2	0	.	GRCh38	chr7	150977855	150977855	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactctggccctcaaacttgCggatgatggtgtccaggaag	9	9	12	11	1	2	1	1	1	1	0	3	3	3	3	2	4	2	0	2	4	2	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.59G>T	p.Arg20Leu	p.R20L	ENST00000262186	1/15	181	158	23	165	165	0	strelka-varscan-mutect	KCNH2,missense_variant,p.Arg20Leu,ENST00000262186,NM_000238.3;KCNH2,5_prime_UTR_variant,,ENST00000430723,NM_172056.2;KCNH2,non_coding_transcript_exon_variant,,ENST00000532957,;	A	ENST00000262186	Transcript	missense_variant	461/4286	59/3480	20/1159	R/L	cGc/cTc		1		-1	KCNH2	HGNC	HGNC:6251	protein_coding	YES	CCDS5910.1	ENSP00000262186	Q12809	A0A090N8Q0	UPI0000062255	NM_000238.3	deleterious(0.02)		1/15		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF506																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	150977855	150977855	C	A	1	0	0	0	0	1	0	0	0	7948	768	27	1		1	KCNH2	7	150977855	Missense_Mutation	SNP	C	C3N-01488_TP	3415624	150977855	8368118	245	26209											
AGAP3	0	.	GRCh38	chr7	151114863	151114863	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcgactcgctggacctGcacggcgcctcggccggccg	3	6	15	17	7	1	0	0	0	1	0	3	2	1	1	4	4	2	2	4	4	0	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.93G>C	p.=	p.L31L	ENST00000335367	1/9	43	33	10	23	23	0	strelka-mutect	AGAP3,synonymous_variant,p.=,ENST00000335367,NM_001308305.1;AGAP3,intron_variant,,ENST00000397238,NM_031946.5;AGAP3,intron_variant,,ENST00000622464,;AGAP3,intron_variant,,ENST00000463381,NM_001281300.1;AGAP3,intron_variant,,ENST00000473312,NM_001042535.2;AGAP3,intron_variant,,ENST00000479901,;AGAP3,intron_variant,,ENST00000469901,;AGAP3,upstream_gene_variant,,ENST00000468796,;AGAP3,intron_variant,,ENST00000476375,;AGAP3,intron_variant,,ENST00000490097,;AGAP3,intron_variant,,ENST00000492234,;AGAP3,upstream_gene_variant,,ENST00000486946,;AGAP3,upstream_gene_variant,,ENST00000480106,;AGAP3,upstream_gene_variant,,ENST00000467724,;AGAP3,upstream_gene_variant,,ENST00000473140,;AGAP3,upstream_gene_variant,,ENST00000490839,;AGAP3,upstream_gene_variant,,ENST00000498559,;	C	ENST00000335367	Transcript	synonymous_variant	186/2675	93/1731	31/576	L	ctG/ctC		1		1	AGAP3	HGNC	HGNC:16923	protein_coding		CCDS78287.1	ENSP00000335589		E7ESL9	UPI0000246FFA	NM_001308305.1			1/9																			LOW		SNV	1			1										PASS		rs1385529763	.												C	2	2	80	151114863	151114863	G	C	1	0	0	0	0	0	0	0	1	446	1306	46	4		4	AGAP3	7	151114863	Silent	SNP	G	C3N-01488_TP	137008	151114863	8231110	246	26210											
UBE3C	0	.	GRCh38	chr7	157186951	157186951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggactctgcgagcgaggagGtcttcaccaccatggcctcc	7	7	13	14	2	3	0	1	0	2	0	4	4	4	2	4	4	2	0	4	4	0	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1261G>C	p.Val421Leu	p.V421L	ENST00000348165	10/23	185	144	41	265	265	0	strelka-varscan-mutect	UBE3C,missense_variant,p.Val421Leu,ENST00000348165,NM_014671.2;UBE3C,missense_variant,p.Val378Leu,ENST00000611269,;UBE3C,missense_variant,p.Val378Leu,ENST00000389103,;	C	ENST00000348165	Transcript	missense_variant	1621/5229	1261/3252	421/1083	V/L	Gtc/Ctc		1		1	UBE3C	HGNC	HGNC:16803	protein_coding	YES	CCDS34789.1	ENSP00000309198	Q15386		UPI000020E72A	NM_014671.2	tolerated(0.18)		10/23		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF336																	MODERATE	1	SNV	1			1										PASS		rs994274762	.												C	3	2	80	157186951	157186951	G	C	1	0	0	0	0	1	0	0	0	17404	1261	44	4		4	UBE3C	7	157186951	Missense_Mutation	SNP	G	C3N-01488_TP	6072088	157186951	2159022	247	26211											
CSMD1	0	.	GRCh38	chr8	2973127	2973128	+	Frame_Shift_Ins	INS	-	-	A																															gctactcaccctcacacaccINSggctgcagtcctgaccatga																								novel		C3N-01488_TP	C3N-01488_NB	-	-																c.8915_8916insT	p.Val2973GlyfsTer3	p.V2973Gfs*3	ENST00000520002	58/71	102	80	22	148	148	0	sindel-varindel-pindel	CSMD1,frameshift_variant,p.Val2834GlyfsTer3,ENST00000537824,;CSMD1,frameshift_variant,p.Val2390GlyfsTer3,ENST00000335551,;CSMD1,frameshift_variant,p.Val2973GlyfsTer3,ENST00000520002,;CSMD1,frameshift_variant,p.Val2973GlyfsTer3,ENST00000602557,;CSMD1,frameshift_variant,p.Val2972GlyfsTer3,ENST00000635120,NM_033225.5;CSMD1,frameshift_variant,p.Val2915GlyfsTer3,ENST00000400186,;CSMD1,frameshift_variant,p.Val2915GlyfsTer3,ENST00000602723,;	A	ENST00000520002	Transcript	frameshift_variant	9471-9472/11740	8915-8916/10698	2972/3565	P/PX	ccg/ccTg		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB				58/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535																	HIGH	1	insertion	5			1										PASS		.	.												A	7	5	80	2973127	2973127	-	A	1	0	1	1	0	0	0	0	0	3745	639	23	0		0	CSMD1	8	2973127	Frame_Shift_Ins	INS	-	C3N-01488_TP		2973127	142165509	248	26212											
CSMD1	0	.	GRCh38	chr8	3409504	3409504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccaccagctcaaaggccgCcgggcattcaaaggtgagtg	10	5	12	14	2	2	1	2	1	0	0	2	1	2	1	5	3	1	2	5	3	2	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1666G>T	p.Ala556Ser	p.A556S	ENST00000520002	14/71	212	188	24	271	271	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Ala417Ser,ENST00000537824,;CSMD1,missense_variant,p.Ala36Ser,ENST00000335551,;CSMD1,missense_variant,p.Ala556Ser,ENST00000520002,;CSMD1,missense_variant,p.Ala556Ser,ENST00000602557,;CSMD1,missense_variant,p.Ala555Ser,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Ala556Ser,ENST00000400186,;CSMD1,missense_variant,p.Ala556Ser,ENST00000602723,;	A	ENST00000520002	Transcript	missense_variant	2222/11740	1666/10698	556/3565	A/S	Gcg/Tcg		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		tolerated(0.54)		14/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		rs891274894	.												A	3	1	80	3409504	3409504	C	A	1	0	0	0	0	1	0	0	0	3745	739	26	2		2	CSMD1	8	3409504	Missense_Mutation	SNP	C	C3N-01488_TP	436377	3409504	141729132	249	26213											
SFTPC	0	.	GRCh38	chr8	22163453	22163453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgctgatcgcctacaaGccagcccctggcacctgctg	7	8	10	16	1	0	1	0	1	0	0	1	1	0	1	5	1	6	4	5	1	3	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.342G>T	p.Lys114Asn	p.K114N	ENST00000318561	4/6	455	382	73	513	513	0	strelka-varscan-mutect	SFTPC,missense_variant,p.Lys114Asn,ENST00000521315,NM_001172357.1;SFTPC,missense_variant,p.Lys114Asn,ENST00000318561,NM_001317778.1,NM_001317780.1,NM_003018.3,NM_001172410.1;SFTPC,missense_variant,p.Lys114Asn,ENST00000522109,;SFTPC,missense_variant,p.Lys114Asn,ENST00000437090,;SFTPC,missense_variant,p.Lys61Asn,ENST00000524255,;SFTPC,missense_variant,p.Lys61Asn,ENST00000520605,;SFTPC,missense_variant,p.Lys61Asn,ENST00000523296,;BMP1,upstream_gene_variant,,ENST00000306385,NM_006129.4;BMP1,upstream_gene_variant,,ENST00000354870,;BMP1,upstream_gene_variant,,ENST00000306349,NM_001199.3;BMP1,upstream_gene_variant,,ENST00000397814,;SFTPC,downstream_gene_variant,,ENST00000522880,;SFTPC,downstream_gene_variant,,ENST00000524318,;SFTPC,downstream_gene_variant,,ENST00000524350,;SFTPC,non_coding_transcript_exon_variant,,ENST00000522630,;BMP1,upstream_gene_variant,,ENST00000520970,;BMP1,upstream_gene_variant,,ENST00000520626,;BMP1,upstream_gene_variant,,ENST00000520982,;BMP1,upstream_gene_variant,,ENST00000471755,;BMP1,upstream_gene_variant,,ENST00000518913,;BMP1,upstream_gene_variant,,ENST00000483364,;BMP1,upstream_gene_variant,,ENST00000521385,;BMP1,upstream_gene_variant,,ENST00000518656,;SFTPC,downstream_gene_variant,,ENST00000518615,;	T	ENST00000318561	Transcript	missense_variant	516/997	342/594	114/197	K/N	aaG/aaT		1		1	SFTPC	HGNC	HGNC:10802	protein_coding	YES	CCDS43722.1	ENSP00000316152	P11686	A0A0S2Z4Q0	UPI0000140371	NM_001317778.1,NM_001317780.1,NM_003018.3,NM_001172410.1	deleterious(0)		4/6		PROSITE_profiles:PS50869,hmmpanther:PTHR10800,Pfam_domain:PF04089,SMART_domains:SM00019,SMART_domains:SM01039																	MODERATE	1	SNV	1			1										PASS		rs1318655449	.												T	3	4	80	22163453	22163453	G	T	1	0	0	0	0	1	0	0	0	14452	962	34	2		2	SFTPC	8	22163453	Missense_Mutation	SNP	G	C3N-01488_TP	18753949	22163453	122975183	250	26214											
TNFRSF10A	0	.	GRCh38	chr8	23199436	23199436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgtaggagacccaagcGccagaaacacaccttaggaa	14	4	9	14	2	0	2	0	0	0	2	1	4	0	3	4	2	2	1	4	2	5	2	rs759566687		C3N-01488_TP	C3N-01488_NB	G	G																c.844C>T	p.Arg282Cys	p.R282C	ENST00000221132	8/10	82	61	21	102	102	0	strelka-varscan-mutect	TNFRSF10A,missense_variant,p.Arg282Cys,ENST00000221132,NM_003844.3;TNFRSF10A,missense_variant,p.Arg124Cys,ENST00000613472,;TNFRSF10A,downstream_gene_variant,,ENST00000524158,;TNFRSF10A,upstream_gene_variant,,ENST00000519862,;	A	ENST00000221132	Transcript	missense_variant	909/2714	844/1407	282/468	R/C	Cgc/Tgc	rs759566687,COSM1229865	1		-1	TNFRSF10A	HGNC	HGNC:11904	protein_coding	YES	CCDS6039.1	ENSP00000221132	O00220		UPI000013C7A8	NM_003844.3	tolerated(0.29)		8/10		hmmpanther:PTHR23097:SF113,hmmpanther:PTHR23097,PIRSF_domain:PIRSF037867											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs759566687	.												A	3	1	80	23199436	23199436	G	A	1	0	0	0	0	1	0	0	0	16754	1087	38	1		1	TNFRSF10A	8	23199436	Missense_Mutation	SNP	G	C3N-01488_TP	1035983	23199436	121939200	251	26215											
FGFR1	0	.	GRCh38	chr8	38418333	38418333	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccgtgatggccgaaccagaAgaaccccagagttcatggat	12	6	12	11	2	1	4	1	1	0	3	1	6	1	5	5	2	2	1	5	2	3	1	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1418T>C	p.Leu473Pro	p.L473P	ENST00000425967	11/19	385	361	24	421	421	0	strelka-varscan-mutect	FGFR1,missense_variant,p.Leu442Pro,ENST00000447712,NM_023110.2;FGFR1,missense_variant,p.Leu440Pro,ENST00000397091,NM_015850.3;FGFR1,missense_variant,p.Leu440Pro,ENST00000532791,NM_001174063.1;FGFR1,missense_variant,p.Leu473Pro,ENST00000425967,NM_001174067.1;FGFR1,missense_variant,p.Leu432Pro,ENST00000335922,NM_001174064.1;FGFR1,missense_variant,p.Leu353Pro,ENST00000356207,NM_023105.2,NM_001174066.1;FGFR1,missense_variant,p.Leu351Pro,ENST00000326324,NM_023106.2;FGFR1,missense_variant,p.Leu440Pro,ENST00000397113,NM_001174065.1;FGFR1,missense_variant,p.Leu353Pro,ENST00000397103,;FGFR1,missense_variant,p.Leu440Pro,ENST00000397108,;FGFR1,3_prime_UTR_variant,,ENST00000341462,;FGFR1,3_prime_UTR_variant,,ENST00000619564,;RP11-350N15.4,upstream_gene_variant,,ENST00000528407,;FGFR1,upstream_gene_variant,,ENST00000526688,;FGFR1,downstream_gene_variant,,ENST00000530701,;FGFR1,3_prime_UTR_variant,,ENST00000487647,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,non_coding_transcript_exon_variant,,ENST00000527114,;FGFR1,non_coding_transcript_exon_variant,,ENST00000466021,;FGFR1,non_coding_transcript_exon_variant,,ENST00000527745,;FGFR1,non_coding_transcript_exon_variant,,ENST00000524528,;FGFR1,downstream_gene_variant,,ENST00000470826,;FGFR1,upstream_gene_variant,,ENST00000531196,;FGFR1,downstream_gene_variant,,ENST00000464163,;FGFR1,upstream_gene_variant,,ENST00000533619,;FGFR1,downstream_gene_variant,,ENST00000475621,;	G	ENST00000425967	Transcript	missense_variant	1741/5375	1418/2562	473/853	L/P	cTt/cCt		1		-1	FGFR1	HGNC	HGNC:3688	protein_coding	YES	CCDS55223.1	ENSP00000393312	P11362		UPI0001CE06A3	NM_001174067.1	tolerated(0.25)		11/19		PIRSF_domain:PIRSF000628,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	38418333	38418333	A	G	1	0	0	0	0	1	0	0	0	5727	72	3	5		5	FGFR1	8	38418333	Missense_Mutation	SNP	A	C3N-01488_TP	15218897	38418333	106720303	252	26216											
ADAM18	0	.	GRCh38	chr8	39648353	39648353	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttattttaggagtgccagTggtagaaagatttttagcaa	12	16	10	3	0	0	2	0	0	0	2	0	3	0	3	1	2	2	2	1	2	6	8			C3N-01488_TP	C3N-01488_NB	T	T																c.1056T>C	p.=	p.S352S	ENST00000265707	12/20	53	43	10	91	91	0	strelka-varscan-mutect	ADAM18,synonymous_variant,p.=,ENST00000265707,NM_014237.2;ADAM18,synonymous_variant,p.=,ENST00000379866,NM_001320313.1;ADAM18,intron_variant,,ENST00000520087,;	C	ENST00000265707	Transcript	synonymous_variant	1101/2388	1056/2220	352/739	S	agT/agC	COSM1330990	1		1	ADAM18	HGNC	HGNC:196	protein_coding	YES	CCDS6113.1	ENSP00000265707	Q9Y3Q7		UPI00001254D7	NM_014237.2			12/20		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF158,Superfamily_domains:SSF55486											1						LOW	1	SNV	1		1	1										PASS		rs1474693878	.												C	2	2	80	39648353	39648353	T	C	1	0	0	0	0	0	0	0	1	283	1693	59	5		5	ADAM18	8	39648353	Silent	SNP	T	C3N-01488_TP	1230020	39648353	105490283	253	26217											
SNTG1	0	.	GRCh38	chr8	50792749	50792749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaggtagcttgtttggacCctctatttttaggcaatcaa	10	14	8	9	0	2	0	1	0	1	0	2	1	2	1	2	3	1	4	2	3	6	7	rs759531781		C3N-01488_TP	C3N-01488_NB	C	C																c.1474C>A	p.Pro492Thr	p.P492T	ENST00000522124	19/19	192	160	32	350	348	2	strelka-varscan-mutect	SNTG1,missense_variant,p.Pro492Thr,ENST00000522124,NM_018967.3;SNTG1,missense_variant,p.Pro492Thr,ENST00000518864,NM_001287813.1;SNTG1,missense_variant,p.Pro455Thr,ENST00000517473,NM_001287814.1;SNTG1,3_prime_UTR_variant,,ENST00000520825,;	A	ENST00000522124	Transcript	missense_variant	2135/3504	1474/1554	492/517	P/T	Cct/Act	rs759531781	1		1	SNTG1	HGNC	HGNC:13740	protein_coding	YES	CCDS6147.1	ENSP00000429842	Q9NSN8	A0A024R7Y0	UPI000004A0DD	NM_018967.3	deleterious(0)		19/19		hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF2																	MODERATE	1	SNV	1			1										PASS		rs759531781	.												A	3	1	80	50792749	50792749	C	A	1	0	0	0	0	1	0	0	0	15194	623	22	2		2	SNTG1	8	50792749	Missense_Mutation	SNP	C	C3N-01488_TP	11144396	50792749	94345887	254	26218											
XKR4	0	.	GRCh38	chr8	55523752	55523752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgccattccagcgctgtGtgtggtgttcagcagctttt	5	16	11	9	1	1	0	1	0	0	0	2	0	2	0	2	1	4	4	2	1	0	5	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1478G>T	p.Cys493Phe	p.C493F	ENST00000327381	3/3	315	275	40	419	417	2	strelka-varscan-mutect	XKR4,missense_variant,p.Cys493Phe,ENST00000327381,NM_052898.1;XKR4,missense_variant,p.Cys493Phe,ENST00000622811,;RP11-628E19.2,upstream_gene_variant,,ENST00000522918,;XKR4,upstream_gene_variant,,ENST00000518261,;	T	ENST00000327381	Transcript	missense_variant	1578/19880	1478/1953	493/650	C/F	tGt/tTt		1		1	XKR4	HGNC	HGNC:29394	protein_coding	YES	CCDS34893.1	ENSP00000328326	Q5GH76		UPI000016098C	NM_052898.1	deleterious(0)		3/3		Transmembrane_helices:TMhelix,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF14,Pfam_domain:PF09815																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	55523752	55523752	G	T	1	0	0	0	0	1	0	0	0	17992	1377	48	2		2	XKR4	8	55523752	Missense_Mutation	SNP	G	C3N-01488_TP	4731003	55523752	89614884	255	26219											
SLCO5A1	0	.	GRCh38	chr8	69682264	69682264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccatctgatccacagactgGctcatactcgtgtattttac	9	14	6	12	1	2	2	1	1	1	1	5	2	4	2	2	1	2	2	2	1	3	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1702C>A	p.Pro568Thr	p.P568T	ENST00000260126	7/10	152	125	27	231	230	1	strelka-varscan-mutect	SLCO5A1,missense_variant,p.Pro568Thr,ENST00000260126,NM_030958.2;SLCO5A1,missense_variant,p.Pro568Thr,ENST00000524945,NM_001146008.1;SLCO5A1,missense_variant,p.Pro513Thr,ENST00000530307,NM_001146009.1;SLCO5A1,3_prime_UTR_variant,,ENST00000526750,;	T	ENST00000260126	Transcript	missense_variant	2409/9076	1702/2547	568/848	P/T	Cca/Aca		1		-1	SLCO5A1	HGNC	HGNC:19046	protein_coding	YES	CCDS6205.1	ENSP00000260126	Q9H2Y9		UPI0000140F53	NM_030958.2	deleterious(0)		7/10		PROSITE_profiles:PS51465,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF91,Pfam_domain:PF03137,Gene3D:3.30.60.30,TIGRFAM_domain:TIGR00805,Pfam_domain:PF07648,Superfamily_domains:SSF100895																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	69682264	69682264	G	T	1	0	0	0	0	1	0	0	0	15018	1203	42	2		2	SLCO5A1	8	69682264	Missense_Mutation	SNP	G	C3N-01488_TP	14158512	69682264	75456372	256	26220											
ZFHX4	0	.	GRCh38	chr8	76842772	76842772	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaactctaataaagactctgGtaagatgcaagaatctttca	17	11	6	7	0	4	3	1	0	3	3	4	3	4	3	0	1	2	2	0	1	7	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.3511+1G>T		p.X1171_splice	ENST00000521891		109	87	22	123	123	0	strelka-varscan-mutect	ZFHX4,splice_donor_variant,,ENST00000521891,NM_024721.4;ZFHX4,splice_donor_variant,,ENST00000518282,;ZFHX4,splice_donor_variant,,ENST00000523625,;ZFHX4,splice_donor_variant,,ENST00000519536,;	T	ENST00000521891	Transcript	splice_donor_variant	-/14019	3511/10851	1171/3616				1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4				6/10																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	80	76842772	76842772	G	T	1	0	0	0	0	0	0	1	0	18213	1275	44	2		2	ZFHX4	8	76842772	Splice_Site	SNP	G	C3N-01488_TP	7160508	76842772	68295864	257	26221											
ZFHX4	0	.	GRCh38	chr8	76854715	76854715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaagaaggagggaatagCggtgaagaccaacaccgaga	19	2	14	6	2	0	4	0	1	0	3	0	8	0	6	2	3	2	0	2	3	7	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.7794C>A	p.Ser2598Arg	p.S2598R	ENST00000521891	10/11	125	91	34	146	145	1	strelka-varscan-mutect	ZFHX4,missense_variant,p.Ser2598Arg,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Ser2572Arg,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	A	ENST00000521891	Transcript	missense_variant	8242/14019	7794/10851	2598/3616	S/R	agC/agA		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	tolerated(0.13)		10/11		Gene3D:1.10.10.60,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,Superfamily_domains:SSF46689																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	80	76854715	76854715	C	A	1	0	0	0	0	1	0	0	0	18213	767	27	1		1	ZFHX4	8	76854715	Missense_Mutation	SNP	C	C3N-01488_TP	11943	76854715	68283921	258	26222											
SLC7A13	0	.	GRCh38	chr8	86229641	86229641	+	Frame_Shift_Del	DEL	G	G	-																															tgaatatgcaaaatatccttGgaagatggcttgtataaggt																								novel		C3N-01488_TP	C3N-01488_NB	G	G																c.637delC	p.Gln213LysfsTer15	p.Q213Kfs*15	ENST00000297524	1/4	147	122	25	200	199	1	sindel-varindel-pindel	SLC7A13,frameshift_variant,p.Gln213LysfsTer15,ENST00000297524,NM_138817.2;SLC7A13,frameshift_variant,p.Gln213LysfsTer10,ENST00000419776,;SLC7A13,intron_variant,,ENST00000520624,;	-	ENST00000297524	Transcript	frameshift_variant	741/1878	637/1413	213/470	Q/X	Caa/aa		1		-1	SLC7A13	HGNC	HGNC:23092	protein_coding	YES	CCDS34917.1	ENSP00000297524	Q8TCU3		UPI000006DF39	NM_138817.2			1/4		Transmembrane_helices:TMhelix,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF238,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	80	86229641	86229641	G	-	1	0	1	0	1	0	0	0	0	14978	1357	47	0		0	SLC7A13	8	86229641	Frame_Shift_Del	DEL	G	C3N-01488_TP	9374926	86229641	58908995	259	26223											
WWP1	0	.	GRCh38	chr8	86374057	86374057	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaattttgggacatggccActgcttcaccaaggtctgat	9	12	10	10	0	2	2	1	2	1	0	2	3	2	3	2	3	1	1	2	3	2	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.7A>G	p.Thr3Ala	p.T3A	ENST00000517970	3/25	178	134	44	239	239	0	strelka-varscan-mutect	WWP1,missense_variant,p.Thr3Ala,ENST00000517970,NM_007013.3;WWP1,missense_variant,p.Thr3Ala,ENST00000265428,;WWP1,non_coding_transcript_exon_variant,,ENST00000523863,;	G	ENST00000517970	Transcript	missense_variant	314/4686	7/2769	3/922	T/A	Act/Gct		1		1	WWP1	HGNC	HGNC:17004	protein_coding	YES	CCDS6242.1	ENSP00000427793	Q9H0M0		UPI0000035537	NM_007013.3	tolerated_low_confidence(0.46)		3/25		hmmpanther:PTHR11254:SF299,hmmpanther:PTHR11254,PIRSF_domain:PIRSF001569																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	86374057	86374057	A	G	1	0	0	0	0	1	0	0	0	17973	159	6	5		5	WWP1	8	86374057	Missense_Mutation	SNP	A	C3N-01488_TP	144416	86374057	58764579	260	26224											
DCAF4L2	0	.	GRCh38	chr8	87873452	87873452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaactgcaaagcatgccagGccgacgcattcctgggaagc	12	5	12	12	2	0	0	0	0	0	0	1	3	1	1	3	2	5	3	3	2	3	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.520C>A	p.Pro174Thr	p.P174T	ENST00000319675	1/1	428	333	95	537	537	0	strelka-varscan-mutect	DCAF4L2,missense_variant,p.Pro174Thr,ENST00000319675,NM_152418.3;CTB-118P15.3,downstream_gene_variant,,ENST00000613582,;	T	ENST00000319675	Transcript	missense_variant	617/3326	520/1188	174/395	P/T	Cct/Act		1		-1	DCAF4L2	HGNC	HGNC:26657	protein_coding	YES	CCDS6245.1	ENSP00000316496	Q8NA75		UPI0000072860	NM_152418.3	tolerated(0.18)		1/1		hmmpanther:PTHR22847:SF457,hmmpanther:PTHR22847,Superfamily_domains:SSF50978																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	80	87873452	87873452	G	T	1	0	0	0	0	1	0	0	0	4073	1203	42	2		2	DCAF4L2	8	87873452	Missense_Mutation	SNP	G	C3N-01488_TP	1499395	87873452	57265184	261	26225											
DPYS	0	.	GRCh38	chr8	104392878	104392878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtgacactgaacactccgGcttcatataccactttgcct	9	11	6	15	2	1	2	1	2	0	0	2	2	2	2	4	1	3	1	4	1	3	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1349C>A	p.Ala450Asp	p.A450D	ENST00000351513	8/10	527	450	77	740	740	0	strelka-varscan-mutect	DPYS,missense_variant,p.Ala450Asp,ENST00000351513,NM_001385.2;DPYS,upstream_gene_variant,,ENST00000533874,;DPYS,non_coding_transcript_exon_variant,,ENST00000521372,;DPYS,intron_variant,,ENST00000521601,;DPYS,non_coding_transcript_exon_variant,,ENST00000520483,;	T	ENST00000351513	Transcript	missense_variant	1482/2127	1349/1560	450/519	A/D	gCc/gAc		1		-1	DPYS	HGNC	HGNC:3013	protein_coding	YES	CCDS6302.1	ENSP00000276651	Q14117		UPI000012986F	NM_001385.2	tolerated(1)		8/10		hmmpanther:PTHR11647:SF50,hmmpanther:PTHR11647,TIGRFAM_domain:TIGR02033,Gene3D:2.30.40.10,Superfamily_domains:SSF51338																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	104392878	104392878	G	T	1	0	0	0	0	1	0	0	0	4561	1203	42	2		2	DPYS	8	104392878	Missense_Mutation	SNP	G	C3N-01488_TP	16519426	104392878	40745758	262	26226											
TRPS1	0	.	GRCh38	chr8	115619824	115619824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagccttctcactcagaaCtgcgcttttcaagtccttct	7	13	6	15	1	4	1	3	0	2	1	6	1	5	1	3	0	3	1	3	0	2	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.274G>T	p.Val92Phe	p.V92F	ENST00000395715	3/7	447	332	115	693	692	1	strelka-varscan-mutect	TRPS1,missense_variant,p.Val92Phe,ENST00000395715,NM_014112.4,NM_001282903.2;TRPS1,missense_variant,p.Val79Phe,ENST00000220888,;TRPS1,missense_variant,p.Val83Phe,ENST00000520276,NM_001282902.2;TRPS1,missense_variant,p.Val79Phe,ENST00000519674,;TRPS1,missense_variant,p.Val83Phe,ENST00000517323,;TRPS1,missense_variant,p.Val92Phe,ENST00000519815,;TRPS1,missense_variant,p.Val92Phe,ENST00000395713,;TRPS1,intron_variant,,ENST00000519076,;TRPS1,downstream_gene_variant,,ENST00000422939,;TRPS1,downstream_gene_variant,,ENST00000451156,;	A	ENST00000395715	Transcript	missense_variant	852/9990	274/3885	92/1294	V/F	Gtt/Ttt		1		-1	TRPS1	HGNC	HGNC:12340	protein_coding	YES	CCDS6318.2	ENSP00000379065	Q9UHF7		UPI00002104B8	NM_014112.4,NM_001282903.2	deleterious_low_confidence(0.01)		3/7																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	115619824	115619824	C	A	1	0	0	0	0	1	0	0	0	17099	565	20	2		2	TRPS1	8	115619824	Missense_Mutation	SNP	C	C3N-01488_TP	11226946	115619824	29518812	263	26227											
TMEM65	0	.	GRCh38	chr8	124372026	124372026	+	Frame_Shift_Del	DEL	G	G	-																															gggccgcccggcaagccgccGgggggcgcgagcgccagcag																								rs778670441		C3N-01488_TP	C3N-01488_NB	G	G																c.132delC	p.Gly45AlafsTer22	p.G45Afs*22	ENST00000297632	1/7	46	33	13	53	53	0	sindel-varindel-pindel	TMEM65,frameshift_variant,p.Gly45AlafsTer22,ENST00000297632,NM_194291.2;	-	ENST00000297632	Transcript	frameshift_variant	667/9029	132/723	44/240	P/X	ccC/cc	rs778670441	1		-1	TMEM65	HGNC	HGNC:25203	protein_coding	YES	CCDS6348.1	ENSP00000297632	Q6PI78		UPI00003675D1	NM_194291.2			1/7		hmmpanther:PTHR21706,Low_complexity_(Seg):seg																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	80	124372026	124372026	G	-	1	0	1	0	1	0	0	0	0	16670	1103	39	0		0	TMEM65	8	124372026	Frame_Shift_Del	DEL	G	C3N-01488_TP	8752202	124372026	20766610	264	26228											
OC90	0	.	GRCh38	chr8	132041543	132041543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcagattcatccacaGgcaacccttccatctcaaac	12	9	4	16	0	3	1	3	0	1	1	6	1	5	1	4	1	2	1	4	1	2	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.914C>G	p.Pro305Arg	p.P305R	ENST00000262283	8/18	100	77	23	130	130	0	strelka-varscan-mutect	RP11-240B13.2,missense_variant,p.Pro305Arg,ENST00000262283,;OC90,missense_variant,p.Pro109Arg,ENST00000254627,NM_001080399.2;	C	ENST00000262283	Transcript	missense_variant	1014/2413	914/2070	305/689	P/R	cCt/cGt		1		-1	RP11-240B13.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000262283		I6L893	UPI0000E5AF6B		deleterious(0)		8/18		Gene3D:1.20.90.10,Pfam_domain:PF00068,Prints_domain:PR00389,hmmpanther:PTHR11716,hmmpanther:PTHR11716:SF1,SMART_domains:SM00085,Superfamily_domains:SSF48619																	MODERATE	1	SNV	1			1										PASS		rs764580544	.												C	3	2	80	132041543	132041543	G	C	1	0	0	0	0	1	0	0	0	10891	1000	35	4		4	OC90	8	132041543	Missense_Mutation	SNP	G	C3N-01488_TP	7669517	132041543	13097093	265	26229											
KCNQ3	0	.	GRCh38	chr8	132480327	132480327	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgcggccgccgccctccAgcagcagggtcccgtctttg	3	7	13	18	6	1	0	0	0	1	0	4	0	3	0	5	2	2	2	5	2	0	1	rs763182139		C3N-01488_TP	C3N-01488_NB	A	A																c.206T>A	p.Leu69Gln	p.L69Q	ENST00000388996	1/15	145	124	21	155	155	0	strelka-varscan-mutect	KCNQ3,missense_variant,p.Leu69Gln,ENST00000388996,NM_004519.3;KCNQ3,missense_variant,p.Leu69Gln,ENST00000519445,;KCNQ3,upstream_gene_variant,,ENST00000519589,;	T	ENST00000388996	Transcript	missense_variant	627/11441	206/2619	69/872	L/Q	cTg/cAg	rs763182139	1		-1	KCNQ3	HGNC	HGNC:6297	protein_coding	YES	CCDS34943.1	ENSP00000373648	O43525		UPI00001279F0	NM_004519.3	deleterious(0.01)		1/15																			MODERATE	1	SNV	1			1										PASS		rs763182139	.												T	3	4	80	132480327	132480327	A	T	1	0	0	0	0	1	0	0	0	8000	188	7	4		4	KCNQ3	8	132480327	Missense_Mutation	SNP	A	C3N-01488_TP	438784	132480327	12658309	266	26230											
FAM135B	0	.	GRCh38	chr8	138132676	138132676	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagcgatgtgagcggctcGgccgatcagggtgttggcag	7	7	17	10	4	1	1	1	1	0	0	2	3	1	1	1	4	2	3	1	4	0	1	rs750596567		C3N-01488_TP	C3N-01488_NB	G	G																c.4138C>A	p.=	p.R1380R	ENST00000395297	20/20	471	394	77	508	507	1	strelka-varscan-mutect	FAM135B,synonymous_variant,p.=,ENST00000395297,NM_015912.3;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,3_prime_UTR_variant,,ENST00000276737,;	T	ENST00000395297	Transcript	synonymous_variant	4309/6962	4138/4221	1380/1406	R	Cga/Aga	rs750596567	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3			20/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482																	LOW	1	SNV	5			1										PASS		rs750596567	.												T	2	4	80	138132676	138132676	G	T	1	0	0	0	0	0	0	0	1	5299	1124	39	1		1	FAM135B	8	138132676	Silent	SNP	G	C3N-01488_TP	5652349	138132676	7005960	267	26231											
FAM135B	0	.	GRCh38	chr8	138151233	138151233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttcctcatccaacgtgctgGaatgggtagaaacaactcca	12	9	8	12	1	1	1	1	0	0	1	4	2	4	2	3	2	4	2	3	2	5	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.3242C>T	p.Ser1081Phe	p.S1081F	ENST00000395297	13/20	60	48	12	106	106	0	strelka-varscan-mutect	FAM135B,missense_variant,p.Ser1081Phe,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Ser1081Phe,ENST00000276737,;FAM135B,missense_variant,p.Ser391Phe,ENST00000467365,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000395295,;	A	ENST00000395297	Transcript	missense_variant	3413/6962	3242/4221	1081/1406	S/F	tCc/tTc		1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	tolerated(0.16)		13/20																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	80	138151233	138151233	G	A	1	0	0	0	0	1	0	0	0	5299	1174	41	3		3	FAM135B	8	138151233	Missense_Mutation	SNP	G	C3N-01488_TP	18557	138151233	6987403	268	26232											
COL22A1	0	.	GRCh38	chr8	138594168	138594168	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgacttcatgtacgccggGggcatctgggccaggaggta	8	8	16	9	2	2	1	1	1	1	0	2	3	2	2	2	5	1	3	2	5	2	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.4464C>A	p.=	p.P1488P	ENST00000303045	63/65	238	189	49	301	301	0	strelka-varscan-mutect	COL22A1,synonymous_variant,p.=,ENST00000303045,NM_152888.2;COL22A1,synonymous_variant,p.=,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;	T	ENST00000303045	Transcript	synonymous_variant	4911/6346	4464/4881	1488/1626	P	ccC/ccA		1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2			63/65																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	80	138594168	138594168	G	T	1	0	0	0	0	0	0	0	1	3469	1219	43	2		2	COL22A1	8	138594168	Silent	SNP	G	C3N-01488_TP	442935	138594168	6544468	269	26233											
COL22A1	0	.	GRCh38	chr8	138598837	138598837	+	Missense_Mutation	SNP	G	G	T																															ctttgtggcctgggattccaGggtccccaggctggcctttt																								novel		C3N-01488_TP	C3N-01488_NB	G	G																c.4247C>A	p.Pro1416His	p.P1416H	ENST00000303045	61/65	337	319	18	361	361	0	strelka-varscan-mutect	COL22A1,missense_variant,p.Pro1416His,ENST00000303045,NM_152888.2;COL22A1,missense_variant,p.Pro1109His,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;	T	ENST00000303045	Transcript	missense_variant	4694/6346	4247/4881	1416/1626	P/H	cCt/cAt		1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2	tolerated(0.09)		61/65		Low_complexity_(Seg):seg,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	138598837	138598837	G	T	1	0	0	0	0	1	0	0	0	3469	1000	35	2		2	COL22A1	8	138598837	Missense_Mutation	SNP	G	C3N-01488_TP	4669	138598837	6539799	270	26234	560	2									
COL22A1	0	.	GRCh38	chr8	138598838	138598838	+	Missense_Mutation	SNP	G	G	T																															tttgtggcctgggattccagGgtccccaggctggccttttc																								rs767697102		C3N-01488_TP	C3N-01488_NB	G	G																c.4246C>A	p.Pro1416Thr	p.P1416T	ENST00000303045	61/65	349	331	18	368	367	1	strelka-varscan-mutect	COL22A1,missense_variant,p.Pro1416Thr,ENST00000303045,NM_152888.2;COL22A1,missense_variant,p.Pro1109Thr,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;	T	ENST00000303045	Transcript	missense_variant	4693/6346	4246/4881	1416/1626	P/T	Cct/Act	rs767697102	1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2	deleterious(0.01)		61/65		Low_complexity_(Seg):seg,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		rs767697102	.												T	3	4	80	138598838	138598838	G	T	1	0	0	0	0	1	0	0	0	3469	1232	43	2		2	COL22A1	8	138598838	Missense_Mutation	SNP	G	C3N-01488_TP	1	138598838	6539798	271	26235	560	2									
SLC45A4	0	.	GRCh38	chr8	141254097	141254097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgcatggggattcggtCtatggacccctcgctgatgg	6	9	15	11	3	1	1	0	1	1	0	3	3	1	3	2	6	0	2	2	6	1	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.133G>T	p.Asp45Tyr	p.D45Y	ENST00000517878	1/8	396	319	77	409	409	0	strelka-varscan-mutect	SLC45A4,missense_variant,p.Asp45Tyr,ENST00000517878,NM_001286646.1;SLC45A4,intron_variant,,ENST00000520137,;RP11-10J21.3,upstream_gene_variant,,ENST00000518520,;RP11-10J21.4,upstream_gene_variant,,ENST00000517658,;SLC45A4,downstream_gene_variant,,ENST00000521804,;	A	ENST00000517878	Transcript	missense_variant	133/3470	133/2427	45/808	D/Y	Gac/Tac		1		-1	SLC45A4	HGNC	HGNC:29196	protein_coding	YES	CCDS75795.1	ENSP00000428137		E7EV90	UPI0001E8F5C7	NM_001286646.1	deleterious(0)		1/8		hmmpanther:PTHR19432,hmmpanther:PTHR19432:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	141254097	141254097	C	A	1	0	0	0	0	1	0	0	0	14920	913	32	2		2	SLC45A4	8	141254097	Missense_Mutation	SNP	C	C3N-01488_TP	2655259	141254097	3884539	272	26236											
CYP11B2	0	.	GRCh38	chr8	142912029	142912029	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggacgtgccaggcctcaatAtgaagctgtagaccatcttt	10	10	11	10	1	2	2	1	1	1	1	2	3	2	3	3	2	2	2	3	2	4	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1463T>G	p.Ile488Arg	p.I488R	ENST00000323110	9/9	326	280	46	426	426	0	strelka-varscan-mutect	CYP11B2,missense_variant,p.Ile488Arg,ENST00000323110,NM_000498.3;GML,intron_variant,,ENST00000522728,;	C	ENST00000323110	Transcript	missense_variant	1466/2936	1463/1512	488/503	I/R	aTa/aGa		1		-1	CYP11B2	HGNC	HGNC:2592	protein_coding	YES	CCDS6393.1	ENSP00000325822	P19099		UPI00001282CF	NM_000498.3	deleterious(0)		9/9		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24279,hmmpanther:PTHR24279:SF46,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		rs1425460719	.												C	3	2	80	142912029	142912029	A	C	1	0	0	0	0	1	0	0	0	3949	449	16	5		5	CYP11B2	8	142912029	Missense_Mutation	SNP	A	C3N-01488_TP	1657932	142912029	2226607	273	26237											
GPIHBP1	0	.	GRCh38	chr8	143215412	143215412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgagtccaggacccaaCaggcaagggggcaggcggcc	9	2	15	15	2	0	0	0	0	0	0	2	2	2	1	4	6	1	2	4	6	2	0	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.449C>A	p.Thr150Lys	p.T150K	ENST00000622500	4/4	329	271	58	374	374	0	strelka-varscan-mutect	GPIHBP1,missense_variant,p.Thr150Lys,ENST00000622500,NM_001301772.1,NM_178172.5;	A	ENST00000622500	Transcript	missense_variant	524/2282	449/555	150/184	T/K	aCa/aAa		1		1	GPIHBP1	HGNC	HGNC:24945	protein_coding	YES	CCDS34954.1	ENSP00000480053	Q8IV16		UPI00002283CA	NM_001301772.1,NM_178172.5	tolerated(0.76)		4/4		hmmpanther:PTHR16983,hmmpanther:PTHR16983:SF12																	MODERATE	1	SNV	1			1										PASS		rs1216010165	.												A	3	1	80	143215412	143215412	C	A	1	0	0	0	0	1	0	0	0	6514	478	17	2		2	GPIHBP1	8	143215412	Missense_Mutation	SNP	C	C3N-01488_TP	303383	143215412	1923224	274	26238											
HGH1	0	.	GRCh38	chr8	144138238	144138238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagccaacctcagtcgcgagCcggcgccgtgtgcagcgctc	6	6	13	16	6	1	0	1	0	0	0	3	1	1	0	4	1	5	2	4	1	2	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.403C>A	p.Pro135Thr	p.P135T	ENST00000347708	1/6	161	131	30	207	206	1	strelka-varscan-mutect	HGH1,missense_variant,p.Pro135Thr,ENST00000347708,NM_016458.3;HGH1,intron_variant,,ENST00000628266,;HGH1,non_coding_transcript_exon_variant,,ENST00000530074,;HGH1,intron_variant,,ENST00000533266,;HGH1,upstream_gene_variant,,ENST00000534255,;HGH1,upstream_gene_variant,,ENST00000525101,;HGH1,upstream_gene_variant,,ENST00000530409,;TSSK5P,downstream_gene_variant,,ENST00000423978,;	A	ENST00000347708	Transcript	missense_variant	470/2531	403/1173	135/390	P/T	Ccg/Acg		1		1	HGH1	HGNC	HGNC:24161	protein_coding	YES	CCDS6417.1	ENSP00000321320	Q9BTY7		UPI0000073A95	NM_016458.3	tolerated(0.26)		1/6		Low_complexity_(Seg):seg,hmmpanther:PTHR13387,Pfam_domain:PF04063,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	144138238	144138238	C	A	1	0	0	0	0	1	0	0	0	6971	739	26	2		2	HGH1	8	144138238	Missense_Mutation	SNP	C	C3N-01488_TP	922826	144138238	1000398	275	26239											
DMRT1	0	.	GRCh38	chr9	847013	847013	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattgggtatcagccacccCatcccactgcccagtgcggc	8	7	10	16	1	1	0	1	0	0	0	2	1	2	0	5	2	3	1	5	2	2	2	rs372939169		C3N-01488_TP	C3N-01488_NB	C	C																c.408C>A	p.=	p.P136P	ENST00000382276	2/5	217	171	46	319	318	1	strelka-varscan-mutect	DMRT1,synonymous_variant,p.=,ENST00000382276,NM_021951.2;DMRT1,5_prime_UTR_variant,,ENST00000569227,;DMRT1,non_coding_transcript_exon_variant,,ENST00000564322,;	A	ENST00000382276	Transcript	synonymous_variant	557/2222	408/1122	136/373	P	ccC/ccA	rs372939169	1		1	DMRT1	HGNC	HGNC:2934	protein_coding	YES	CCDS6442.1	ENSP00000371711	Q9Y5R6		UPI00000008AC	NM_021951.2			2/5		Pfam_domain:PF12374,hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF70																	LOW	1	SNV	1			1										PASS		rs372939169	.												A	2	1	80	847013	847013	C	A	1	0	0	0	0	0	0	0	1	4392	581	21	2		2	DMRT1	9	847013	Silent	SNP	C	C3N-01488_TP		847013	137547704	276	26240											
SMARCA2	0	.	GRCh38	chr9	2032995	2032995	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggattgtagaagacatccAttgtggatccatgaagggca	12	9	14	6	0	0	3	0	1	0	2	2	5	2	5	2	4	0	2	2	4	3	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.269A>G	p.His90Arg	p.H90R	ENST00000382203	3/34	159	134	25	244	244	0	strelka-varscan-mutect	SMARCA2,missense_variant,p.His90Arg,ENST00000637806,;SMARCA2,missense_variant,p.His90Arg,ENST00000636559,;SMARCA2,missense_variant,p.His90Arg,ENST00000382203,NM_001289396.1;SMARCA2,missense_variant,p.His90Arg,ENST00000357248,NM_139045.3;SMARCA2,missense_variant,p.His90Arg,ENST00000349721,NM_003070.4;SMARCA2,missense_variant,p.His90Arg,ENST00000382194,;SMARCA2,missense_variant,p.His90Arg,ENST00000637103,;SMARCA2,missense_variant,p.His90Arg,ENST00000450198,NM_001289397.1;SMARCA2,missense_variant,p.His90Arg,ENST00000636903,;SMARCA2,missense_variant,p.His90Arg,ENST00000439732,;SMARCA2,missense_variant,p.His90Arg,ENST00000457226,;SMARCA2,5_prime_UTR_variant,,ENST00000634287,;SMARCA2,downstream_gene_variant,,ENST00000637383,;SMARCA2,downstream_gene_variant,,ENST00000637352,;SMARCA2,downstream_gene_variant,,ENST00000636221,;SMARCA2,downstream_gene_variant,,ENST00000637097,;SMARCA2,downstream_gene_variant,,ENST00000637134,;SMARCA2,non_coding_transcript_exon_variant,,ENST00000491574,;SMARCA2,missense_variant,p.His90Arg,ENST00000634760,;SMARCA2,non_coding_transcript_exon_variant,,ENST00000634536,;	G	ENST00000382203	Transcript	missense_variant	478/5867	269/4773	90/1590	H/R	cAt/cGt		1		1	SMARCA2	HGNC	HGNC:11098	protein_coding	YES	CCDS34977.1	ENSP00000371638	P51531		UPI00001AE8EB	NM_001289396.1	tolerated_low_confidence(1)		3/34		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF541																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	2032995	2032995	A	G	1	0	0	0	0	1	0	0	0	15062	217	8	5		5	SMARCA2	9	2032995	Missense_Mutation	SNP	A	C3N-01488_TP	1185982	2032995	136361722	277	26241											
PTPRD	0	.	GRCh38	chr9	8485811	8485811	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactgggactatatggcccGggccctttgctcgtatgagc	7	10	12	12	2	0	1	0	1	0	0	1	2	0	2	2	3	2	2	2	3	3	4	rs148110842		C3N-01488_TP	C3N-01488_NB	G	G																c.3006C>A	p.=	p.P1002P	ENST00000381196	25/43	145	117	28	218	218	0	strelka-varscan-mutect	PTPRD,synonymous_variant,p.=,ENST00000381196,NM_002839.3;PTPRD,synonymous_variant,p.=,ENST00000356435,;PTPRD,synonymous_variant,p.=,ENST00000540109,;PTPRD,intron_variant,,ENST00000355233,NM_130392.3;PTPRD,intron_variant,,ENST00000397617,;PTPRD,intron_variant,,ENST00000397611,NM_001040712.2;PTPRD,intron_variant,,ENST00000537002,NM_130393.3;PTPRD,intron_variant,,ENST00000486161,NM_130391.3;PTPRD,intron_variant,,ENST00000397606,NM_001171025.1;PTPRD,upstream_gene_variant,,ENST00000637354,;PTPRD,non_coding_transcript_exon_variant,,ENST00000471274,;PTPRD,upstream_gene_variant,,ENST00000477552,;	T	ENST00000381196	Transcript	synonymous_variant	3550/9911	3006/5739	1002/1912	P	ccC/ccA	rs148110842	1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3			25/43		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	5			1										PASS		rs148110842	.												T	2	4	80	8485811	8485811	G	T	1	0	0	0	0	0	0	0	1	12953	1103	39	1		1	PTPRD	9	8485811	Silent	SNP	G	C3N-01488_TP	6452816	8485811	129908906	278	26242											
FAM205A	0	.	GRCh38	chr9	34723470	34723470	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctccccacagggctcttgGctggagccaggctctttgca	5	11	11	14	0	3	0	0	0	3	0	4	1	3	1	3	4	2	4	3	4	0	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.3770C>G	p.Ala1257Gly	p.A1257G	ENST00000378788	4/4	254	224	30	379	379	0	strelka-varscan-mutect	FAM205A,missense_variant,p.Ala1257Gly,ENST00000378788,NM_001141917.1;	C	ENST00000378788	Transcript	missense_variant	3810/4225	3770/4008	1257/1335	A/G	gCc/gGc		1		-1	FAM205A	HGNC	HGNC:41911	protein_coding	YES	CCDS55305.1	ENSP00000417711	Q6ZU69		UPI00017EE92B	NM_001141917.1	deleterious(0.03)		4/4		hmmpanther:PTHR21859:SF15,hmmpanther:PTHR21859																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	80	34723470	34723470	G	C	1	0	0	0	0	1	0	0	0	5386	1203	42	4		4	FAM205A	9	34723470	Missense_Mutation	SNP	G	C3N-01488_TP	26237659	34723470	103671247	279	26243											
FAM205A	0	.	GRCh38	chr9	34724437	34724437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaatgtctccccttggtGgtttagactttcaagagact	9	13	10	9	0	2	2	1	0	1	2	3	4	2	2	2	2	1	2	2	2	3	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.2803C>A	p.His935Asn	p.H935N	ENST00000378788	4/4	121	110	11	219	219	0	varscan-mutect	FAM205A,missense_variant,p.His935Asn,ENST00000378788,NM_001141917.1;	T	ENST00000378788	Transcript	missense_variant	2843/4225	2803/4008	935/1335	H/N	Cac/Aac		1		-1	FAM205A	HGNC	HGNC:41911	protein_coding	YES	CCDS55305.1	ENSP00000417711	Q6ZU69		UPI00017EE92B	NM_001141917.1	tolerated(1)		4/4		hmmpanther:PTHR21859:SF15,hmmpanther:PTHR21859																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	80	34724437	34724437	G	T	1	0	0	0	0	1	0	0	0	5386	1348	47	2		2	FAM205A	9	34724437	Missense_Mutation	SNP	G	C3N-01488_TP	967	34724437	103670280	280	26244											
CCIN	0	.	GRCh38	chr9	36169785	36169785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttctatagcggcaaggtgGtgatctccgagcaaaatgtg	11	10	12	8	2	2	1	0	1	2	0	3	2	2	1	1	3	2	2	1	3	5	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.283G>T	p.Val95Leu	p.V95L	ENST00000335119	1/1	386	307	79	573	573	0	strelka-varscan-mutect	CCIN,missense_variant,p.Val95Leu,ENST00000335119,NM_005893.2;	T	ENST00000335119	Transcript	missense_variant	392/1941	283/1767	95/588	V/L	Gtg/Ttg		1		1	CCIN	HGNC	HGNC:1568	protein_coding	YES	CCDS6599.1	ENSP00000334996	Q13939	Q8WX35	UPI000006EB8E	NM_005893.2	tolerated(0.31)		1/1		PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF163,hmmpanther:PTHR24412,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	80	36169785	36169785	G	T	1	0	0	0	0	1	0	0	0	2576	1261	44	2		2	CCIN	9	36169785	Missense_Mutation	SNP	G	C3N-01488_TP	1445348	36169785	102224932	281	26245											
SPATA31A6	0	.	GRCh38	chr9	42188923	42188923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctacatgacctcatggcagCcagaaggagcaaactggtgc	12	6	12	11	0	1	2	1	1	0	1	1	3	1	3	2	3	5	3	2	3	3	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.3221C>A	p.Ala1074Asp	p.A1074D	ENST00000332857	4/4	515	468	47	821	821	0	varscan-mutect	SPATA31A6,missense_variant,p.Ala1074Asp,ENST00000332857,NM_001145196.1;SPATA31A6,downstream_gene_variant,,ENST00000496386,;	A	ENST00000332857	Transcript	missense_variant	3250/4209	3221/4032	1074/1343	A/D	gCc/gAc		1		1	SPATA31A6	HGNC	HGNC:32006	protein_coding	YES	CCDS75837.1	ENSP00000329825	Q5VVP1		UPI0000197F6E	NM_001145196.1	tolerated(0.88)		4/4		hmmpanther:PTHR21859:SF18,hmmpanther:PTHR21859																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	80	42188923	42188923	C	A	1	0	0	0	0	1	0	0	0	15345	739	26	2		2	SPATA31A6	9	42188923	Missense_Mutation	SNP	C	C3N-01488_TP	6019138	42188923	96205794	282	26246											
SPATA31A3	0	.	GRCh38	chr9	66990037	66990037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttggcttgaggatccgggGaagctaacagggagagaatg	11	7	17	6	1	0	2	0	1	0	1	1	6	1	5	1	5	2	3	1	5	3	3	rs762767425		C3N-01488_TP	C3N-01488_NB	G	G																c.461C>A	p.Ser154Tyr	p.S154Y	ENST00000428649	4/4	737	677	60	1185	1184	1	varscan-mutect	SPATA31A3,missense_variant,p.Ser154Tyr,ENST00000428649,NM_001083124.1;RP11-395E19.2,downstream_gene_variant,,ENST00000616253,;	T	ENST00000428649	Transcript	missense_variant	523/4256	461/4044	154/1347	S/Y	tCc/tAc	rs762767425	1		-1	SPATA31A3	HGNC	HGNC:32003	protein_coding	YES	CCDS78400.1	ENSP00000485118	Q5VYP0		UPI00004588FC	NM_001083124.1	deleterious(0.01)		4/4		Pfam_domain:PF15371,hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		rs762767425	.												T	3	4	80	66990037	66990037	G	T	1	0	0	0	0	1	0	0	0	15344	1174	41	2		2	SPATA31A3	9	66990037	Missense_Mutation	SNP	G	C3N-01488_TP	24801114	66990037	71404680	283	26247											
VPS13A	0	.	GRCh38	chr9	77407565	77407565	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtatttcatgccagagaGtttggaaaaataattaactt	14	15	7	5	0	2	1	1	0	1	1	2	3	2	2	1	1	2	2	1	1	5	6	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.9432G>C	p.Glu3144Asp	p.E3144D	ENST00000360280	71/72	241	188	53	382	382	0	strelka-varscan-mutect	VPS13A,missense_variant,p.Glu3144Asp,ENST00000360280,NM_033305.2;VPS13A,missense_variant,p.Glu3105Asp,ENST00000376636,NM_001018037.1;VPS13A,missense_variant,p.Glu80Asp,ENST00000376646,;VPS13A,missense_variant,p.Glu80Asp,ENST00000484581,;VPS13A,missense_variant,p.Glu18Asp,ENST00000467124,;	C	ENST00000360280	Transcript	missense_variant	9692/15320	9432/9525	3144/3174	E/D	gaG/gaC		1		1	VPS13A	HGNC	HGNC:1908	protein_coding	YES	CCDS6655.1	ENSP00000353422	Q96RL7		UPI0000210B7A	NM_033305.2	tolerated(0.28)		71/72		hmmpanther:PTHR16166:SF22,hmmpanther:PTHR16166																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	80	77407565	77407565	G	C	1	0	0	0	0	1	0	0	0	17736	1020	36	4		4	VPS13A	9	77407565	Missense_Mutation	SNP	G	C3N-01488_TP	10417528	77407565	60987152	284	26248											
RASEF	0	.	GRCh38	chr9	83000477	83000477	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttgatgaactaacaaTgctgccttcactaacagacc	12	12	5	12	0	2	3	1	2	1	1	2	3	2	3	2	0	5	1	2	0	4	5	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.1531A>G	p.Ile511Val	p.I511V	ENST00000376447	11/17	139	130	9	227	227	0	strelka-varscan-mutect	RASEF,missense_variant,p.Ile511Val,ENST00000376447,NM_152573.3;	C	ENST00000376447	Transcript	missense_variant	1792/5576	1531/2223	511/740	I/V	Att/Gtt		1		-1	RASEF	HGNC	HGNC:26464	protein_coding	YES	CCDS6662.1	ENSP00000365630	Q8IZ41		UPI0000074189	NM_152573.3	tolerated(0.63)		11/17		Low_complexity_(Seg):seg,hmmpanther:PTHR22621:SF4,hmmpanther:PTHR22621																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	80	83000477	83000477	T	C	1	0	0	0	0	1	0	0	0	13229	1464	51	5		5	RASEF	9	83000477	Missense_Mutation	SNP	T	C3N-01488_TP	5592912	83000477	55394240	285	26249											
WNK2	0	.	GRCh38	chr9	93317559	93317559	+	Frame_Shift_Del	DEL	C	C	-																															gagtggggatgccacgtctgCccccagcgcccggccctctg																								rs767273259		C3N-01488_TP	C3N-01488_NB	C	C																c.6671delC	p.Pro2224GlnfsTer92	p.P2224Qfs*92	ENST00000297954	29/30	281	248	33	384	383	1	sindel-varindel-pindel	WNK2,frameshift_variant,p.Pro2183GlnfsTer55,ENST00000432730,;WNK2,frameshift_variant,p.Pro2224GlnfsTer92,ENST00000297954,NM_001282394.1;WNK2,frameshift_variant,p.Pro2187GlnfsTer35,ENST00000395477,NM_006648.3;WNK2,frameshift_variant,p.Pro1679GlnfsTer155,ENST00000411624,;WNK2,frameshift_variant,p.Pro984GlnfsTer35,ENST00000448251,;C9orf129,downstream_gene_variant,,ENST00000375419,NM_001098808.1;WNK2,non_coding_transcript_exon_variant,,ENST00000471076,;WNK2,non_coding_transcript_exon_variant,,ENST00000467401,;	-	ENST00000297954	Transcript	frameshift_variant	6667/7138	6667/6894	2223/2297	P/X	Ccc/cc	rs767273259	1		1	WNK2	HGNC	HGNC:14542	protein_coding	YES	CCDS75858.1	ENSP00000297954	Q9Y3S1		UPI0000236D76	NM_001282394.1			29/30																			HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	80	93317559	93317559	C	-	1	0	1	0	1	0	0	0	0	17934	739	26	0		0	WNK2	9	93317559	Frame_Shift_Del	DEL	C	C3N-01488_TP	10317082	93317559	45077158	286	26250											
NUTM2F	0	.	GRCh38	chr9	94325727	94325727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agacgttggaagccccggccCcactcgggccgcggccatcc	6	4	13	18	5	0	1	0	0	0	1	2	2	1	2	7	4	1	1	7	4	1	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.224G>T	p.Gly75Val	p.G75V	ENST00000253262	2/7	243	217	26	388	388	0	strelka-varscan-mutect	NUTM2F,missense_variant,p.Gly75Val,ENST00000253262,NM_017561.1;NUTM2F,missense_variant,p.Gly75Val,ENST00000341207,;	A	ENST00000253262	Transcript	missense_variant	245/2561	224/2271	75/756	G/V	gGg/gTg		1		-1	NUTM2F	HGNC	HGNC:23450	protein_coding	YES	CCDS47994.1	ENSP00000253262	A1L443		UPI00001D771D	NM_017561.1	deleterious(0.01)		2/7		Pfam_domain:PF12881,hmmpanther:PTHR22879,hmmpanther:PTHR22879:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	94325727	94325727	C	A	1	0	0	0	0	1	0	0	0	10851	623	22	2		2	NUTM2F	9	94325727	Missense_Mutation	SNP	C	C3N-01488_TP	1008168	94325727	44068990	287	26251											
FKBP15	0	.	GRCh38	chr9	113184706	113184706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagtcaccttagtcatgaGatgatccattttatcagcca	11	13	6	11	0	4	2	4	2	0	1	5	3	5	2	3	0	1	0	3	0	2	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1597C>T	p.Leu533Phe	p.L533F	ENST00000238256	16/28	159	132	27	226	226	0	strelka-varscan-mutect	FKBP15,missense_variant,p.Leu558Phe,ENST00000446284,;FKBP15,missense_variant,p.Leu533Phe,ENST00000238256,NM_015258.1;FKBP15,downstream_gene_variant,,ENST00000414250,;FKBP15,non_coding_transcript_exon_variant,,ENST00000489645,;	A	ENST00000238256	Transcript	missense_variant	1715/4336	1597/3660	533/1219	L/F	Ctc/Ttc		1		-1	FKBP15	HGNC	HGNC:23397	protein_coding	YES	CCDS48007.1	ENSP00000238256	Q5T1M5		UPI000022D996	NM_015258.1	deleterious(0)		16/28		hmmpanther:PTHR18937:SF256,hmmpanther:PTHR18937																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	113184706	113184706	G	A	1	0	0	0	0	1	0	0	0	5768	942	33	3		3	FKBP15	9	113184706	Missense_Mutation	SNP	G	C3N-01488_TP	18858979	113184706	25210011	288	26252											
ODF2	0	.	GRCh38	chr9	128471441	128471441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgaggcacaacatcgagcGcatgaaggaggagaaggact	14	5	15	7	2	0	3	0	2	0	1	1	7	0	5	0	4	2	3	0	4	3	1	rs780846935		C3N-01488_TP	C3N-01488_NB	G	G																c.554G>T	p.Arg185Leu	p.R185L	ENST00000434106	6/21	367	296	71	440	440	0	strelka-varscan-mutect	ODF2,missense_variant,p.Arg180Leu,ENST00000351030,NM_001242352.1;ODF2,missense_variant,p.Arg185Leu,ENST00000434106,NM_153433.1;ODF2,missense_variant,p.Arg161Leu,ENST00000393527,NM_002540.4,NM_153435.1;ODF2,missense_variant,p.Arg185Leu,ENST00000604420,NM_001242353.1;ODF2,missense_variant,p.Arg180Leu,ENST00000372807,;ODF2,missense_variant,p.Arg161Leu,ENST00000444119,;ODF2,missense_variant,p.Arg166Leu,ENST00000372791,NM_153437.2;ODF2,missense_variant,p.Arg229Leu,ENST00000372814,NM_153432.1,NM_153439.1;ODF2,missense_variant,p.Arg166Leu,ENST00000546203,NM_153440.1;ODF2,missense_variant,p.Arg185Leu,ENST00000393533,NM_153436.1;ODF2,missense_variant,p.Arg104Leu,ENST00000448249,NM_001242354.1;ODF2,missense_variant,p.Arg128Leu,ENST00000421776,;ODF2,missense_variant,p.Arg109Leu,ENST00000432065,;ODF2,downstream_gene_variant,,ENST00000446274,;ODF2,downstream_gene_variant,,ENST00000470061,;ODF2,downstream_gene_variant,,ENST00000497812,;ODF2-AS1,intron_variant,,ENST00000420801,;ODF2,downstream_gene_variant,,ENST00000469582,;	T	ENST00000434106	Transcript	missense_variant	917/3890	554/2490	185/829	R/L	cGc/cTc	rs780846935	1		1	ODF2	HGNC	HGNC:8114	protein_coding	YES	CCDS56588.1	ENSP00000403453	Q5BJF6		UPI0000211922	NM_153433.1	deleterious(0.04)		6/21		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23162,hmmpanther:PTHR23162:SF8																	MODERATE	1	SNV	1			1										PASS		rs780846935	.												T	3	4	80	128471441	128471441	G	T	1	0	0	0	0	1	0	0	0	10905	1087	38	1		1	ODF2	9	128471441	Missense_Mutation	SNP	G	C3N-01488_TP	15286735	128471441	9923276	289	26253											
HMCN2	0	.	GRCh38	chr9	130386485	130386485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgtaaagtcagcaacgtgGctggggaggccgtgcggacc	8	6	17	10	3	1	0	1	0	0	0	1	2	1	2	2	5	3	4	2	5	3	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.9349G>A	p.Ala3117Thr	p.A3117T	ENST00000624552	61/98	121	111	10	167	167	0	strelka-varscan-mutect	HMCN2,missense_variant,p.Ala3117Thr,ENST00000624552,NM_001291815.1;HMCN2,missense_variant,p.Ala150Thr,ENST00000487727,;	A	ENST00000624552	Transcript	missense_variant	9349/15610	9349/15180	3117/5059	A/T	Gct/Act		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	deleterious(0)		61/98		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs1286631968	.												A	3	1	80	130386485	130386485	G	A	1	0	0	0	0	1	0	0	0	7112	1203	42	3		3	HMCN2	9	130386485	Missense_Mutation	SNP	G	C3N-01488_TP	1915044	130386485	8008232	290	26254											
LAMC3	0	.	GRCh38	chr9	131057069	131057069	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgctccgggatacaagaggGagatgccacaggggggtccc	9	5	17	10	1	0	2	0	0	0	2	2	4	2	3	3	5	3	1	3	5	2	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.2080G>C	p.Glu694Gln	p.E694Q	ENST00000361069	12/28	436	345	91	630	630	0	strelka-varscan-mutect	LAMC3,missense_variant,p.Glu694Gln,ENST00000361069,NM_006059.3;LAMC3,intron_variant,,ENST00000480883,;	C	ENST00000361069	Transcript	missense_variant	2213/6133	2080/4728	694/1575	E/Q	Gag/Cag		1		1	LAMC3	HGNC	HGNC:6494	protein_coding	YES	CCDS6938.1	ENSP00000354360	Q9Y6N6		UPI000013D6D3	NM_006059.3	deleterious(0.04)		12/28		Pfam_domain:PF00053,PROSITE_patterns:PS01248,SMART_domains:SM00180																	MODERATE	1	SNV	2			1										PASS		rs1328441247	.												C	3	2	80	131057069	131057069	G	C	1	0	0	0	0	1	0	0	0	8520	1175	41	4		4	LAMC3	9	131057069	Missense_Mutation	SNP	G	C3N-01488_TP	670584	131057069	7337648	291	26255											
ABO	0	.	GRCh38	chr9	133256128	133256128	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaggtaatccacctcgctGaggaagcgccgctcgcagaa	11	5	11	14	4	0	2	0	1	0	1	3	3	1	3	4	2	1	4	4	2	3	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.600C>G	p.=	p.L200L	ENST00000538324	8/9	429	360	69	572	571	1	strelka-varscan-mutect	ABO,synonymous_variant,p.=,ENST00000611156,NM_020469.2;ABO,synonymous_variant,p.=,ENST00000538324,;ABO,non_coding_transcript_exon_variant,,ENST00000453660,;	C	ENST00000538324	Transcript	synonymous_variant	625/1147	600/1122	200/373	L	ctC/ctG		1		-1	ABO	HGNC	HGNC:79	protein_coding	YES		ENSP00000483018		A0A087X009	UPI0004E4CBD3				8/9		hmmpanther:PTHR10462,hmmpanther:PTHR10462:SF31,Pfam_domain:PF03414,Gene3D:3.90.550.10,Superfamily_domains:SSF53448																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	80	133256128	133256128	G	C	1	0	0	0	0	0	0	0	1	107	1277	45	4		4	ABO	9	133256128	Silent	SNP	G	C3N-01488_TP	2199059	133256128	5138589	292	26256											
PNPLA7	0	.	GRCh38	chr9	137501716	137501716	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgccacccggccatccaaCagagatgagtcctaaaaaca	15	4	8	14	2	0	2	0	1	0	1	2	3	2	2	5	1	3	0	5	1	4	1	rs533121955		C3N-01488_TP	C3N-01488_NB	C	C																c.1485G>T	p.=	p.L495L	ENST00000406427	15/35	160	150	10	208	208	0	strelka-varscan-mutect	PNPLA7,synonymous_variant,p.=,ENST00000406427,NM_001098537.2;PNPLA7,synonymous_variant,p.=,ENST00000277531,NM_152286.4;	A	ENST00000406427	Transcript	synonymous_variant	1822/4806	1485/4029	495/1342	L	ctG/ctT	rs533121955	1		-1	PNPLA7	HGNC	HGNC:24768	protein_coding	YES	CCDS48070.1	ENSP00000384610	Q6ZV29		UPI000443805D	NM_001098537.2			15/35		PROSITE_profiles:PS50042,hmmpanther:PTHR14226,hmmpanther:PTHR14226:SF23,SMART_domains:SM00100,Superfamily_domains:SSF51206																	LOW	1	SNV	2			1										PASS		rs533121955	.												A	2	1	80	137501716	137501716	C	A	1	0	0	0	0	0	0	0	1	12278	465	17	2		2	PNPLA7	9	137501716	Silent	SNP	C	C3N-01488_TP	4245588	137501716	893001	293	26257											
EHMT1	0	.	GRCh38	chr9	137743489	137743489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagaggacggtgattgaGatgtttaagagcataactca	16	9	11	5	1	1	4	1	2	0	3	1	6	1	5	0	2	3	2	0	2	3	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.942G>T	p.Glu314Asp	p.E314D	ENST00000460843	5/27	213	186	27	308	303	5	strelka-varscan-mutect	EHMT1,missense_variant,p.Glu314Asp,ENST00000460843,NM_024757.4;EHMT1,missense_variant,p.Glu283Asp,ENST00000637161,;EHMT1,missense_variant,p.Glu314Asp,ENST00000629335,;EHMT1,missense_variant,p.Glu276Asp,ENST00000636027,;EHMT1,missense_variant,p.Glu22Asp,ENST00000637318,;EHMT1,missense_variant,p.Glu314Asp,ENST00000462484,NM_001145527.1;EHMT1,missense_variant,p.Glu296Asp,ENST00000637977,;EHMT1,missense_variant,p.Glu282Asp,ENST00000626066,;EHMT1,missense_variant,p.Glu38Asp,ENST00000629808,;EHMT1,missense_variant,p.Glu22Asp,ENST00000478940,;EHMT1,non_coding_transcript_exon_variant,,ENST00000495657,;EHMT1,3_prime_UTR_variant,,ENST00000637261,;EHMT1,3_prime_UTR_variant,,ENST00000371394,;EHMT1,3_prime_UTR_variant,,ENST00000638071,;EHMT1,upstream_gene_variant,,ENST00000462942,;	T	ENST00000460843	Transcript	missense_variant	1008/5137	942/3897	314/1298	E/D	gaG/gaT		1		1	EHMT1	HGNC	HGNC:24650	protein_coding	YES	CCDS7050.2	ENSP00000417980	Q9H9B1		UPI000194EC2D	NM_024757.4	deleterious_low_confidence(0.01)		5/27		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF364																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	137743489	137743489	G	T	1	0	0	0	0	1	0	0	0	4819	933	33	2		2	EHMT1	9	137743489	Missense_Mutation	SNP	G	C3N-01488_TP	241773	137743489	651228	294	26258											
UCN3	0	.	GRCh38	chr10	5374205	5374205	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaattgggaggaagaagtAgaggcggaggctggacggga	13	4	20	4	2	0	2	0	0	0	2	0	7	0	7	0	7	0	3	0	7	4	2	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.485A>G	p.Ter162TrpextTer49	p.*162Wext*49	ENST00000380433	2/2	76	63	13	72	71	1	strelka-varscan-mutect	UCN3,stop_lost,p.Ter162TrpextTer49,ENST00000380433,NM_053049.2;	G	ENST00000380433	Transcript	stop_lost	713/1200	485/486	162/161	*/W	tAg/tGg		1		1	UCN3	HGNC	HGNC:17781	protein_coding	YES	CCDS7065.1	ENSP00000369798	Q969E3		UPI000013FC64	NM_053049.2			2/2																			HIGH	1	SNV	1			1										PASS		.	.												G	4	3	80	5374205	5374205	A	G	1	0	0	0	0	0	0	0	0	17453	433	15	5		5	UCN3	10	5374205	Nonstop_Mutation	SNP	A	C3N-01488_TP		5374205	128423217	295	26259											
PHYH	0	.	GRCh38	chr10	13281078	13281089	+	In_Frame_Del	DEL	GCAATCGGCACT	GCAATCGGCACT	-																															cccttcacgtcaatgtagtgGcaatcggcactggcgaaatg																								novel		C3N-01488_TP	C3N-01488_NB	GCAATCGGCACT	GCAATCGGCACT																c.850_861delAGTGCCGATTGC	p.Ser284_Cys287del	p.S284_C287del	ENST00000263038	8/9	446	385	61	639	639	0	sindel-varindel-pindel	PHYH,inframe_deletion,p.Ser267_Cys270del,ENST00000396920,;PHYH,inframe_deletion,p.Ser184_Cys187del,ENST00000396913,NM_001323084.1,NM_001037537.1;PHYH,inframe_deletion,p.Ser284_Cys287del,ENST00000263038,NM_001323082.1,NM_006214.3;PHYH,downstream_gene_variant,,ENST00000453759,;	-	ENST00000263038	Transcript	inframe_deletion	909-920/1577	850-861/1017	284-287/338	SADC/-	AGTGCCGATTGC/-		1		-1	PHYH	HGNC	HGNC:8940	protein_coding	YES	CCDS7097.1	ENSP00000263038	O14832		UPI0000131215	NM_001323082.1,NM_006214.3			8/9		hmmpanther:PTHR21308:SF1,hmmpanther:PTHR21308,Gene3D:2.60.120.620,Superfamily_domains:SSF51197																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	80	13281078	13281078	GCAATCGGCACT	-	1	0	1	0	1	0	0	0	0	11952	1195	42	0		0	PHYH	10	13281078	In_Frame_Del	DEL	GCAATCGGCACT	C3N-01488_TP	7906873	13281078	120516344	296	26260											
FAM107B	0	.	GRCh38	chr10	14774506	14774506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggccacaggctgcacaCggacggtggaatgagtatca	10	8	13	10	2	1	1	1	1	0	0	1	3	1	3	1	5	1	3	1	5	2	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.158G>T	p.Arg53Leu	p.R53L	ENST00000181796	1/5	262	204	58	303	303	0	strelka-varscan-mutect	FAM107B,missense_variant,p.Arg53Leu,ENST00000181796,NM_031453.3;FAM107B,missense_variant,p.Arg53Leu,ENST00000487335,;	A	ENST00000181796	Transcript	missense_variant	392/3785	158/921	53/306	R/L	cGt/cTt		1		-1	FAM107B	HGNC	HGNC:23726	protein_coding	YES	CCDS7102.1	ENSP00000181796	Q9H098		UPI00001C0E1E	NM_031453.3	tolerated_low_confidence(0.49)		1/5																			MODERATE	1	SNV	2			1										PASS		rs1238674134	.												A	3	1	80	14774506	14774506	C	A	1	0	0	0	0	1	0	0	0	5258	536	19	1		1	FAM107B	10	14774506	Missense_Mutation	SNP	C	C3N-01488_TP	1493428	14774506	119022916	297	26261											
ITGA8	0	.	GRCh38	chr10	15718900	15718900	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaccaagacactcgctCtgcaaaagagttggagaaag	14	5	9	13	1	1	3	0	0	1	3	2	4	1	3	3	1	1	3	3	1	4	1			C3N-01488_TP	C3N-01488_NB	C	C																c.210-1G>T		p.X70_splice	ENST00000378076		146	115	31	175	175	0	strelka-varscan-mutect	ITGA8,splice_acceptor_variant,,ENST00000378076,NM_003638.2,NM_001291494.1;	A	ENST00000378076	Transcript	splice_acceptor_variant	-/6755	210/3192	70/1063			COSM1297139	1		-1	ITGA8	HGNC	HGNC:6144	protein_coding	YES	CCDS31155.1	ENSP00000367316	P53708		UPI00001D80A0	NM_003638.2,NM_001291494.1				1/29												1						HIGH	1	SNV	1		1	1										PASS		.	.												A	5	1	80	15718900	15718900	C	A	1	0	0	0	0	0	0	1	0	7789	927	32	2		2	ITGA8	10	15718900	Splice_Site	SNP	C	C3N-01488_TP	944394	15718900	118078522	298	26262											
CUBN	0	.	GRCh38	chr10	16948491	16948491	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttacccgacactgatgcGgtgaccgtggtgtggaaacc	8	10	12	11	3	1	2	0	2	1	0	1	4	1	3	3	3	3	0	3	3	2	2	rs182162293		C3N-01488_TP	C3N-01488_NB	G	G																c.5196C>T	p.=	p.T1732T	ENST00000377833	35/67	385	310	75	553	553	0	strelka-varscan-mutect	CUBN,synonymous_variant,p.=,ENST00000377833,NM_001081.3;	A	ENST00000377833	Transcript	synonymous_variant	5262/11949	5196/10872	1732/3623	T	acC/acT	rs182162293,COSM1560854	1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3			35/67		PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF645,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854											0,1						LOW	1	SNV	1		0,1	1										PASS		rs182162293	.												A	2	1	80	16948491	16948491	G	A	1	0	0	0	0	0	0	0	1	3861	1103	39	1		1	CUBN	10	16948491	Silent	SNP	G	C3N-01488_TP	1229591	16948491	116848931	299	26263											
MRC1	0	.	GRCh38	chr10	17906960	17906960	+	Frame_Shift_Del	DEL	A	A	-																															gggttgagccacttaaaagtAaaaccaatttttggatagga																								novel		C3N-01488_TP	C3N-01488_NB	A	A																c.3877delA	p.Thr1293ProfsTer5	p.T1293Pfs*5	ENST00000569591	27/30	291	240	51	394	394	0	sindel-varindel-pindel	MRC1,frameshift_variant,p.Thr1293ProfsTer5,ENST00000569591,NM_002438.3;	-	ENST00000569591	Transcript	frameshift_variant	3996/5198	3874/4371	1292/1456	K/X	Aaa/aa		1		1	MRC1	HGNC	HGNC:7228	protein_coding	YES	CCDS7123.2	ENSP00000455897	P22897		UPI000012EB9A	NM_002438.3			27/30		PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF73,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	80	17906960	17906960	A	-	1	0	1	0	1	0	0	0	0	9722	363	13	0		0	MRC1	10	17906960	Frame_Shift_Del	DEL	A	C3N-01488_TP	958469	17906960	115890462	300	26264											
ARHGAP21	0	.	GRCh38	chr10	24597998	24597998	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaattagatccctgttagtGactccagtgtcctacagaat	11	13	7	10	0	0	3	0	1	0	2	3	3	3	3	3	0	1	1	3	0	5	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.3144C>A	p.=	p.V1048V	ENST00000396432	15/26	116	103	13	178	177	1	strelka-varscan-mutect	ARHGAP21,synonymous_variant,p.=,ENST00000396432,NM_020824.3;ARHGAP21,synonymous_variant,p.=,ENST00000636789,;ARHGAP21,synonymous_variant,p.=,ENST00000446003,;ARHGAP21,synonymous_variant,p.=,ENST00000376410,;ARHGAP21,intron_variant,,ENST00000612832,;ARHGAP21,intron_variant,,ENST00000320481,;ARHGAP21,upstream_gene_variant,,ENST00000418033,;ARHGAP21,upstream_gene_variant,,ENST00000418325,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000493154,;ARHGAP21,synonymous_variant,p.=,ENST00000638156,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000486374,;ARHGAP21,upstream_gene_variant,,ENST00000482792,;	T	ENST00000396432	Transcript	synonymous_variant	3631/7167	3144/5877	1048/1958	V	gtC/gtA		1		-1	ARHGAP21	HGNC	HGNC:23725	protein_coding	YES	CCDS7144.2	ENSP00000379709	Q5T5U3		UPI0001639C78	NM_020824.3			15/26		hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	80	24597998	24597998	G	T	1	0	0	0	0	0	0	0	1	995	1277	45	2		2	ARHGAP21	10	24597998	Silent	SNP	G	C3N-01488_TP	6691038	24597998	109199424	301	26265											
ANKRD26	0	.	GRCh38	chr10	27035531	27035531	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acactaagccgtccattataCtgggatattgtttgtgttaa	11	15	8	7	1	0	0	0	0	0	0	1	1	1	1	2	1	2	2	2	1	5	7	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.2919G>C	p.Gln973His	p.Q973H	ENST00000376087	24/34	286	259	27	397	397	0	strelka-varscan-mutect	ANKRD26,missense_variant,p.Gln989His,ENST00000436985,;ANKRD26,missense_variant,p.Gln973His,ENST00000376087,NM_014915.2,NM_001256053.1;ANKRD26,downstream_gene_variant,,ENST00000490015,;	G	ENST00000376087	Transcript	missense_variant	3085/6591	2919/5133	973/1710	Q/H	caG/caC		1		-1	ANKRD26	HGNC	HGNC:29186	protein_coding	YES	CCDS41499.1	ENSP00000365255	Q9UPS8		UPI000006FC41	NM_014915.2,NM_001256053.1	deleterious(0.01)		24/34		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14915,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF24																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	80	27035531	27035531	C	G	1	0	0	0	0	1	0	0	0	757	564	20	4		4	ANKRD26	10	27035531	Missense_Mutation	SNP	C	C3N-01488_TP	2437533	27035531	106761891	302	26266											
ARHGAP12	0	.	GRCh38	chr10	31908324	31908324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggaccgggaaaatgacCaaatgagcgtgtcctattct	11	10	10	10	2	2	2	0	2	2	0	3	4	3	4	3	2	1	0	3	2	4	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.532G>A	p.Gly178Ser	p.G178S	ENST00000344936	3/20	187	154	33	293	293	0	strelka-varscan-mutect	ARHGAP12,missense_variant,p.Gly178Ser,ENST00000396144,NM_001270695.1;ARHGAP12,missense_variant,p.Gly178Ser,ENST00000375245,NM_001270697.1;ARHGAP12,missense_variant,p.Gly178Ser,ENST00000375250,NM_001270696.1,NM_001270698.1;ARHGAP12,missense_variant,p.Gly178Ser,ENST00000311380,NM_001270699.1;ARHGAP12,missense_variant,p.Gly178Ser,ENST00000344936,NM_018287.6;HMGB1P7,upstream_gene_variant,,ENST00000450921,;	T	ENST00000344936	Transcript	missense_variant	767/4128	532/2541	178/846	G/S	Ggt/Agt		1		-1	ARHGAP12	HGNC	HGNC:16348	protein_coding	YES	CCDS7170.1	ENSP00000345808	Q8IWW6		UPI000007445E	NM_018287.6	tolerated(0.2)		3/20		hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF3,Pfam_domain:PF16618																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	31908324	31908324	C	T	1	0	0	0	0	1	0	0	0	989	594	21	3		3	ARHGAP12	10	31908324	Missense_Mutation	SNP	C	C3N-01488_TP	4872793	31908324	101889098	303	26267											
AGAP4	0	.	GRCh38	chr10	45827238	45827238	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggttggaccagcgcatggaCcgcttgcaaacgggggtggg	8	6	18	9	3	0	0	0	0	0	0	0	2	0	2	2	6	3	4	2	6	1	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.669G>T	p.=	p.R223R	ENST00000448048	7/7	79	67	12	104	104	0	varscan-mutect	AGAP4,synonymous_variant,p.=,ENST00000616763,;AGAP4,synonymous_variant,p.=,ENST00000311652,;AGAP4,synonymous_variant,p.=,ENST00000448048,NM_133446.3;AGAP4,synonymous_variant,p.=,ENST00000618171,NM_001276343.2;AGAP4,downstream_gene_variant,,ENST00000492347,;AGAP4,downstream_gene_variant,,ENST00000430779,;	A	ENST00000448048	Transcript	synonymous_variant	795/2439	669/1992	223/663	R	cgG/cgT		1		-1	AGAP4	HGNC	HGNC:23459	protein_coding	YES	CCDS7215.1	ENSP00000392513	Q96P64		UPI000013ED67	NM_133446.3			7/7		hmmpanther:PTHR23180:SF213,hmmpanther:PTHR23180																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	80	45827238	45827238	C	A	1	0	0	0	0	0	0	0	1	447	494	18	2		2	AGAP4	10	45827238	Silent	SNP	C	C3N-01488_TP	13918914	45827238	87970184	304	26268											
AGAP14P	0	.	GRCh38	chr10	46358124	46358124	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaatcctaagtgggccAgtttgaacttgggagtcctc	9	10	11	11	0	0	2	0	1	0	1	3	3	2	3	4	2	1	1	4	2	3	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1468A>T	p.Ser490Cys	p.S490C	ENST00000624701	9/9	935	884	51	1178	1178	0	varscan-mutect	AGAP14P,missense_variant,p.Ser490Cys,ENST00000624701,;	T	ENST00000624701	Transcript	missense_variant	1468/2058	1468/2058	490/685	S/C	Agt/Tgt		1		1	AGAP14P	HGNC	HGNC:23660	protein_coding	YES		ENSP00000485140		A0A096LNP0	UPI000514C5BF		deleterious(0)		9/9		PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF213,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863,Prints_domain:PR00405																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	46358124	46358124	A	T	1	0	0	0	0	1	0	0	0	444	188	7	4		4	AGAP14P	10	46358124	Missense_Mutation	SNP	A	C3N-01488_TP	530886	46358124	87439298	305	26269											
GDF10	0	.	GRCh38	chr10	47310436	47310436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgcacagcacttccacaaGcaccagctgtggcccagccc	10	4	8	19	1	0	0	0	0	0	0	1	0	1	0	4	1	4	4	4	1	1	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.960G>T	p.Lys320Asn	p.K320N	ENST00000580279	2/3	162	137	25	193	193	0	strelka-varscan-mutect	GDF10,missense_variant,p.Lys320Asn,ENST00000580279,NM_004962.3;	T	ENST00000580279	Transcript	missense_variant	1226/2458	960/1437	320/478	K/N	aaG/aaT		1		1	GDF10	HGNC	HGNC:4215	protein_coding	YES	CCDS73117.1	ENSP00000464145	P55107		UPI0000126A13	NM_004962.3	tolerated(0.23)		2/3		PIRSF_domain:PIRSF037403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	47310436	47310436	G	T	1	0	0	0	0	1	0	0	0	6184	962	34	2		2	GDF10	10	47310436	Missense_Mutation	SNP	G	C3N-01488_TP	952312	47310436	86486986	306	26270											
ADAMTS14	0	.	GRCh38	chr10	70735264	70735264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatggatgagcagtgccGctttgactttggcagtggct	7	12	13	9	1	1	2	1	2	0	0	1	3	1	3	1	3	2	4	1	3	1	2	rs781417210		C3N-01488_TP	C3N-01488_NB	G	G																c.1457G>T	p.Arg486Leu	p.R486L	ENST00000373208	9/22	183	157	26	211	211	0	strelka-varscan-mutect	ADAMTS14,missense_variant,p.Arg486Leu,ENST00000373208,NM_139155.2;ADAMTS14,missense_variant,p.Arg483Leu,ENST00000373207,NM_080722.3;	T	ENST00000373208	Transcript	missense_variant	1457/5269	1457/3681	486/1226	R/L	cGc/cTc	rs781417210	1		1	ADAMTS14	HGNC	HGNC:14899	protein_coding	YES	CCDS7307.1	ENSP00000362304	Q8WXS8		UPI000013E57B	NM_139155.2	deleterious(0)		9/22		hmmpanther:PTHR13723:SF24,hmmpanther:PTHR13723,SMART_domains:SM00608																	MODERATE	1	SNV	2			1										PASS		rs781417210	.												T	3	4	80	70735264	70735264	G	T	1	0	0	0	0	1	0	0	0	303	1087	38	1		1	ADAMTS14	10	70735264	Missense_Mutation	SNP	G	C3N-01488_TP	23424828	70735264	63062158	307	26271											
ADAMTS14	0	.	GRCh38	chr10	70745260	70745260	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagatcccagcaggtgcCaggcacatccagattgaggc	10	6	13	12	0	0	3	0	1	0	2	2	3	2	3	3	3	3	3	3	3	0	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.2226C>A	p.=	p.A742A	ENST00000373208	15/22	153	124	29	230	230	0	strelka-varscan-mutect	ADAMTS14,synonymous_variant,p.=,ENST00000373208,NM_139155.2;ADAMTS14,synonymous_variant,p.=,ENST00000373207,NM_080722.3;	A	ENST00000373208	Transcript	synonymous_variant	2226/5269	2226/3681	742/1226	A	gcC/gcA		1		1	ADAMTS14	HGNC	HGNC:14899	protein_coding	YES	CCDS7307.1	ENSP00000362304	Q8WXS8		UPI000013E57B	NM_139155.2			15/22		hmmpanther:PTHR13723:SF24,hmmpanther:PTHR13723,Pfam_domain:PF05986																	LOW	1	SNV	2			1										PASS		rs957360888	.												A	2	1	80	70745260	70745260	C	A	1	0	0	0	0	0	0	0	1	303	581	21	2		2	ADAMTS14	10	70745260	Silent	SNP	C	C3N-01488_TP	9996	70745260	63052162	308	26272											
HHEX	0	.	GRCh38	chr10	92690260	92690260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgctggccgctgcctacGgacccggcggcttcgggggc	2	5	17	17	7	0	0	0	0	0	0	1	1	0	1	4	6	2	3	4	6	1	2	rs867605493		C3N-01488_TP	C3N-01488_NB	G	G																c.274G>A	p.Gly92Arg	p.G92R	ENST00000282728	1/4	261	228	33	342	342	0	strelka-varscan-mutect	HHEX,missense_variant,p.Gly92Arg,ENST00000282728,NM_002729.4;HHEX,upstream_gene_variant,,ENST00000472590,;HHEX,upstream_gene_variant,,ENST00000492654,;HHEX,non_coding_transcript_exon_variant,,ENST00000551454,;	A	ENST00000282728	Transcript	missense_variant	310/1727	274/813	92/270	G/R	Gga/Aga	rs867605493,COSM1741957	1		1	HHEX	HGNC	HGNC:4901	protein_coding	YES	CCDS7423.1	ENSP00000282728	Q03014		UPI000012CA59	NM_002729.4	deleterious(0.03)		1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR24324											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs867605493	.												A	3	1	80	92690260	92690260	G	A	1	0	0	0	0	1	0	0	0	6976	1117	39	1		1	HHEX	10	92690260	Missense_Mutation	SNP	G	C3N-01488_TP	21945000	92690260	41107162	309	26273											
SLIT1	0	.	GRCh38	chr10	97066050	97066050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagctccccgaaaagctttCctggggatggcctggatggc	7	9	14	11	1	0	0	0	0	0	0	2	3	2	2	4	5	2	3	4	5	3	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.450G>T	p.Arg150Ser	p.R150S	ENST00000266058	5/37	282	237	45	361	360	1	strelka-varscan-mutect	SLIT1,missense_variant,p.Arg150Ser,ENST00000266058,NM_003061.2;SLIT1,missense_variant,p.Arg150Ser,ENST00000371070,;SLIT1,missense_variant,p.Arg133Ser,ENST00000314867,;SLIT1,missense_variant,p.Arg150Ser,ENST00000371041,;SLIT1,non_coding_transcript_exon_variant,,ENST00000497714,;	A	ENST00000266058	Transcript	missense_variant	696/7925	450/4605	150/1534	R/S	agG/agT		1		-1	SLIT1	HGNC	HGNC:11085	protein_coding	YES	CCDS7453.1	ENSP00000266058	O75093		UPI00001F9491	NM_003061.2	deleterious(0.01)		5/37		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	97066050	97066050	C	A	1	0	0	0	0	1	0	0	0	15030	854	30	2		2	SLIT1	10	97066050	Missense_Mutation	SNP	C	C3N-01488_TP	4375790	97066050	36731372	310	26274											
PDCD11	0	.	GRCh38	chr10	103406692	103406692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttgttagtctgtctgttGgtcactcagaggtttctacg	6	16	12	7	1	5	1	2	0	3	1	5	2	5	1	0	2	1	4	0	2	2	5	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.772G>T	p.Gly258Cys	p.G258C	ENST00000369797	7/36	303	259	44	385	385	0	strelka-varscan-mutect	PDCD11,missense_variant,p.Gly258Cys,ENST00000369797,NM_014976.1;PDCD11,downstream_gene_variant,,ENST00000493610,;PDCD11,downstream_gene_variant,,ENST00000471061,;	T	ENST00000369797	Transcript	missense_variant	866/6453	772/5616	258/1871	G/C	Ggt/Tgt		1		1	PDCD11	HGNC	HGNC:13408	protein_coding	YES	CCDS31276.1	ENSP00000358812	Q14690		UPI00001C1ED1	NM_014976.1	tolerated(0.06)		7/36		PROSITE_profiles:PS50126,hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF10,Gene3D:2.40.50.140,SMART_domains:SM00316,Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	103406692	103406692	G	T	1	0	0	0	0	1	0	0	0	11705	1348	47	2		2	PDCD11	10	103406692	Missense_Mutation	SNP	G	C3N-01488_TP	6340642	103406692	30390730	311	26275											
SORCS3	0	.	GRCh38	chr10	105211158	105211158	+	Frame_Shift_Del	DEL	T	T	-																															gactatgggtatgagagacaTggggagagccagtgtgtccc																								novel		C3N-01488_TP	C3N-01488_NB	T	T																c.2283delT	p.His761GlnfsTer45	p.H761Qfs*45	ENST00000369701	17/27	172	139	33	261	261	0	sindel-varindel	SORCS3,frameshift_variant,p.His761GlnfsTer45,ENST00000369701,NM_014978.2;SORCS3,frameshift_variant,p.His761GlnfsTer45,ENST00000369699,;SORCS3,frameshift_variant,p.His122GlnfsTer?,ENST00000393176,;	-	ENST00000369701	Transcript	frameshift_variant	2510/5757	2283/3669	761/1222	H/X	caT/ca		1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2			17/27		Pfam_domain:PF15901,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,SMART_domains:SM00602																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	80	105211158	105211158	T	-	1	0	1	0	1	0	0	0	0	15254	1461	51	0		0	SORCS3	10	105211158	Frame_Shift_Del	DEL	T	C3N-01488_TP	1804466	105211158	28586264	312	26276	561	2									
SORCS3	0	.	GRCh38	chr10	105211159	105211159	+	Missense_Mutation	SNP	G	G	A																															actatgggtatgagagacatGgggagagccagtgtgtccca																								rs868844368		C3N-01488_TP	C3N-01488_NB	G	G																c.2284G>A	p.Gly762Arg	p.G762R	ENST00000369701	17/27	199	162	37	264	263	1	strelka-mutect	SORCS3,missense_variant,p.Gly762Arg,ENST00000369701,NM_014978.2;SORCS3,missense_variant,p.Gly762Arg,ENST00000369699,;SORCS3,missense_variant,p.Gly123Arg,ENST00000393176,;	A	ENST00000369701	Transcript	missense_variant	2511/5757	2284/3669	762/1222	G/R	Ggg/Agg	rs868844368,COSM4633112,COSM5285236	1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2	tolerated(0.44)		17/27		Pfam_domain:PF15901,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,SMART_domains:SM00602											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		.	.												A	3	1	80	105211159	105211159	G	A	1	0	0	0	0	1	0	0	0	15254	1348	47	3		3	SORCS3	10	105211159	Missense_Mutation	SNP	G	C3N-01488_TP	1	105211159	28586263	313	26277	561	2									
SORCS3	0	.	GRCh38	chr10	105255801	105255801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcacacagctgacgttaGgtgagtgccactgggaactg	10	9	13	9	1	1	2	1	2	0	0	1	3	1	3	1	2	3	2	1	2	2	1	rs755605384		C3N-01488_TP	C3N-01488_NB	G	G																c.3337G>T	p.Ala1113Ser	p.A1113S	ENST00000369701	24/27	79	71	8	111	110	1	strelka-varscan-mutect	SORCS3,missense_variant,p.Ala1113Ser,ENST00000369701,NM_014978.2;SORCS3,missense_variant,p.Ala1113Ser,ENST00000369699,;	T	ENST00000369701	Transcript	missense_variant,splice_region_variant	3564/5757	3337/3669	1113/1222	A/S	Gct/Tct	rs755605384,COSM427049	1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2	tolerated(0.13)		24/27		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs755605384	.												T	3	4	80	105255801	105255801	G	T	1	0	0	0	0	1	0	0	0	15254	1014	35	2		2	SORCS3	10	105255801	Missense_Mutation	SNP	G	C3N-01488_TP	44642	105255801	28541621	314	26278											
SORCS1	0	.	GRCh38	chr10	106652472	106652472	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccgcagcccccgcggggcTttccctgggcacttctgcgg	3	8	13	17	4	1	0	0	0	1	0	3	0	3	0	4	4	2	3	4	4	0	2	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.2385A>T	p.Lys795Asn	p.K795N	ENST00000263054	18/26	223	184	39	269	269	0	strelka-varscan-mutect	SORCS1,missense_variant,p.Lys795Asn,ENST00000263054,NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1;SORCS1,missense_variant,p.Lys553Asn,ENST00000612154,;SORCS1,missense_variant,p.Lys553Asn,ENST00000622431,;SORCS1,missense_variant,p.Lys553Asn,ENST00000344440,;SORCS1,missense_variant,p.Lys330Asn,ENST00000369698,;	A	ENST00000263054	Transcript	missense_variant	2393/7272	2385/3507	795/1168	K/N	aaA/aaT		1		-1	SORCS1	HGNC	HGNC:16697	protein_coding	YES	CCDS7559.1	ENSP00000263054	Q8WY21		UPI00001AE866	NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1	tolerated(0.19)		18/26		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF8,SMART_domains:SM00602,Superfamily_domains:SSF49299																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	106652472	106652472	T	A	1	0	0	0	0	1	0	0	0	15252	1606	56	4		4	SORCS1	10	106652472	Missense_Mutation	SNP	T	C3N-01488_TP	1396671	106652472	27144950	315	26279											
SORCS1	0	.	GRCh38	chr10	106688218	106688218	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagtgcacggggtccccccTtagatccgtgtccggcgcct	4	8	13	16	4	0	1	0	0	0	1	3	1	3	1	6	3	1	2	6	3	1	1	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.1534A>T	p.Arg512Trp	p.R512W	ENST00000263054	10/26	195	156	39	204	204	0	strelka-varscan-mutect	SORCS1,missense_variant,p.Arg512Trp,ENST00000263054,NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1;SORCS1,missense_variant,p.Arg270Trp,ENST00000612154,;SORCS1,missense_variant,p.Arg270Trp,ENST00000622431,;SORCS1,missense_variant,p.Arg270Trp,ENST00000344440,;SORCS1,missense_variant,p.Arg47Trp,ENST00000369698,;	A	ENST00000263054	Transcript	missense_variant	1542/7272	1534/3507	512/1168	R/W	Agg/Tgg		1		-1	SORCS1	HGNC	HGNC:16697	protein_coding	YES	CCDS7559.1	ENSP00000263054	Q8WY21		UPI00001AE866	NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1	deleterious(0.01)		10/26		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF8,Gene3D:2.130.10.140,Pfam_domain:PF15902,SMART_domains:SM00602,Superfamily_domains:SSF110296																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	106688218	106688218	T	A	1	0	0	0	0	1	0	0	0	15252	1608	56	4		4	SORCS1	10	106688218	Missense_Mutation	SNP	T	C3N-01488_TP	35746	106688218	27109204	316	26280											
AFAP1L2	0	.	GRCh38	chr10	114300318	114300318	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgtctggattttgacggtGgtgattctcagggaaggatc	7	13	14	7	2	2	2	1	2	2	0	5	5	3	5	1	5	0	0	1	5	1	3			C3N-01488_TP	C3N-01488_NB	G	G																c.1833C>A	p.=	p.T611T	ENST00000304129	15/19	224	186	38	310	310	0	strelka-varscan-mutect	AFAP1L2,synonymous_variant,p.=,ENST00000369271,NM_032550.3;AFAP1L2,synonymous_variant,p.=,ENST00000304129,NM_001287824.1,NM_001001936.2;AFAP1L2,non_coding_transcript_exon_variant,,ENST00000491814,;AFAP1L2,downstream_gene_variant,,ENST00000486300,;	T	ENST00000304129	Transcript	synonymous_variant	1863/3705	1833/2457	611/818	T	acC/acA	COSM5570214,COSM5570215	1		-1	AFAP1L2	HGNC	HGNC:25901	protein_coding	YES	CCDS31286.1	ENSP00000303042	Q8N4X5		UPI0000071FAF	NM_001287824.1,NM_001001936.2			15/19		hmmpanther:PTHR14338:SF4,hmmpanther:PTHR14338											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	80	114300318	114300318	G	T	1	0	0	0	0	0	0	0	1	432	1335	47	2		2	AFAP1L2	10	114300318	Silent	SNP	G	C3N-01488_TP	7612100	114300318	19497104	317	26281											
PNLIPRP3	0	.	GRCh38	chr10	116466145	116466145	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttattgcttatccttgtAgatcctacacatcttttaaa	11	18	3	9	0	1	1	0	0	1	1	3	1	3	1	2	0	2	2	2	0	6	9	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.904A>T	p.Arg302Ter	p.R302*	ENST00000369230	8/12	181	150	31	263	263	0	strelka-varscan-mutect	PNLIPRP3,stop_gained,p.Arg302Ter,ENST00000369230,NM_001011709.2;	T	ENST00000369230	Transcript	stop_gained	1050/2354	904/1404	302/467	R/*	Aga/Tga		1		1	PNLIPRP3	HGNC	HGNC:23492	protein_coding	YES	CCDS31292.1	ENSP00000358232	Q17RR3		UPI000013DB40	NM_001011709.2			8/12		hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF100,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	80	116466145	116466145	A	T	1	0	0	0	0	0	1	0	0	12259	412	15	4		4	PNLIPRP3	10	116466145	Nonsense_Mutation	SNP	A	C3N-01488_TP	2165827	116466145	17331277	318	26282											
PRLHR	0	.	GRCh38	chr10	118594167	118594167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacggtcatattctggccatGgggggctatcttgcggggcc	5	10	16	10	2	3	0	1	0	2	0	3	1	3	0	2	7	1	1	2	7	2	4	rs200268174		C3N-01488_TP	C3N-01488_NB	G	G																c.1078C>A	p.His360Asn	p.H360N	ENST00000239032	2/2	18	14	4	26	26	0	strelka-varscan-mutect	PRLHR,missense_variant,p.His360Asn,ENST00000239032,NM_004248.2;PRLHR,missense_variant,p.His360Asn,ENST00000636925,;	T	ENST00000239032	Transcript	missense_variant	1268/5446	1078/1113	360/370	H/N	Cat/Aat	rs200268174,COSM1346076	1		-1	PRLHR	HGNC	HGNC:4464	protein_coding	YES	CCDS7606.1	ENSP00000239032	P49683		UPI000013CA6F	NM_004248.2	tolerated(0.46)		2/2		Prints_domain:PR01018,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF194											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs200268174	.												T	3	4	80	118594167	118594167	G	T	1	0	0	0	0	1	0	0	0	12662	1348	47	2		2	PRLHR	10	118594167	Missense_Mutation	SNP	G	C3N-01488_TP	2128022	118594167	15203255	319	26283											
CPXM2	0	.	GRCh38	chr10	123746765	123746765	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaagggcccaggagggtCacccacgctgtcgtctcttc	6	9	11	15	2	3	0	2	0	2	0	7	1	3	1	2	3	0	1	2	3	1	1			C3N-01488_TP	C3N-01488_NB	C	C																c.2270G>T	p.Ter757LeuextTer19	p.*757Lext*19	ENST00000241305	14/14	135	110	25	214	210	4	strelka-varscan-mutect	CPXM2,stop_lost,p.Ter757LeuextTer19,ENST00000241305,NM_198148.2;CPXM2,intron_variant,,ENST00000615851,;CPXM2,intron_variant,,ENST00000368854,;	A	ENST00000241305	Transcript	stop_lost	2425/3554	2270/2271	757/756	*/L	tGa/tTa	COSM4834564	1		-1	CPXM2	HGNC	HGNC:26977	protein_coding	YES	CCDS7637.1	ENSP00000241305	Q8N436		UPI00001AE6BE	NM_198148.2			14/14													1						HIGH	1	SNV	1		1	1										PASS		rs1464713173	.												A	4	1	80	123746765	123746765	C	A	1	0	0	0	0	0	0	0	0	3636	837	29	2		2	CPXM2	10	123746765	Nonstop_Mutation	SNP	C	C3N-01488_TP	5152598	123746765	10050657	320	26284											
MKI67	0	.	GRCh38	chr10	128103254	128103254	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtctcccctgaggtttgTgtgagcttgccaactgctaa	6	13	12	10	0	1	2	0	2	1	0	2	2	1	2	3	2	4	3	3	2	2	3	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.8586A>G	p.=	p.T2862T	ENST00000368654	13/15	418	345	73	503	503	0	strelka-varscan-mutect	MKI67,synonymous_variant,p.=,ENST00000368654,NM_002417.4;MKI67,synonymous_variant,p.=,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;	C	ENST00000368654	Transcript	synonymous_variant	8962/12678	8586/9771	2862/3256	T	acA/acG		1		-1	MKI67	HGNC	HGNC:7107	protein_coding	YES	CCDS7659.1	ENSP00000357643	P46013		UPI000013DB54	NM_002417.4			13/15		Pfam_domain:PF08065,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,SMART_domains:SM01295																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	80	128103254	128103254	T	C	1	0	0	0	0	0	0	0	1	9566	1683	59	5		5	MKI67	10	128103254	Silent	SNP	T	C3N-01488_TP	4356489	128103254	5694168	321	26285											
CFAP46	0	.	GRCh38	chr10	132847300	132847300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctccagagacttgaGgccgctcagcttggcgccca	7	7	11	16	2	1	2	1	1	0	1	3	3	3	2	4	2	2	3	4	2	0	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.5974C>A	p.Leu1992Ile	p.L1992I	ENST00000368586	42/58	107	84	23	142	142	0	strelka-varscan-mutect	CFAP46,missense_variant,p.Leu1992Ile,ENST00000368586,NM_001200049.2;	T	ENST00000368586	Transcript	missense_variant	6075/8278	5974/8148	1992/2715	L/I	Ctc/Atc		1		-1	CFAP46	HGNC	HGNC:25247	protein_coding	YES	CCDS58101.1	ENSP00000357575	Q8IYW2		UPI0001B79116	NM_001200049.2	tolerated(0.17)		42/58																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	132847300	132847300	G	T	1	0	0	0	0	1	0	0	0	3021	1000	35	2		2	CFAP46	10	132847300	Missense_Mutation	SNP	G	C3N-01488_TP	4744046	132847300	950122	322	26286											
NLRP6	0	.	GRCh38	chr11	284575	284581	+	Frame_Shift_Del	DEL	CCCGCCC	CCCGCCC	-																															atctcagcggctgccaactgCccgcccccatggtgacctac																								novel		C3N-01488_TP	C3N-01488_NB	CCCGCCC	CCCGCCC																c.2475_2481delCGCCCCC	p.Ala826TrpfsTer2	p.A826Wfs*2	ENST00000312165	7/8	209	191	18	265	265	0	sindel-varindel-pindel	NLRP6,frameshift_variant,p.Ala825TrpfsTer2,ENST00000534750,NM_001276700.1;NLRP6,frameshift_variant,p.Ala826TrpfsTer2,ENST00000312165,NM_138329.2;ATHL1,upstream_gene_variant,,ENST00000409548,NM_025092.4;ATHL1,upstream_gene_variant,,ENST00000409479,;ATHL1,upstream_gene_variant,,ENST00000409655,;RP11-326C3.2,upstream_gene_variant,,ENST00000534742,;RP11-326C3.2,upstream_gene_variant,,ENST00000525217,;RP11-326C3.2,upstream_gene_variant,,ENST00000533924,;ATHL1,upstream_gene_variant,,ENST00000474221,;ATHL1,upstream_gene_variant,,ENST00000529087,;NLRP6,downstream_gene_variant,,ENST00000527946,;	-	ENST00000312165	Transcript	frameshift_variant	2473-2479/2679	2473-2479/2679	825-827/892	PAP/X	CCCGCCCcc/cc		1		1	NLRP6	HGNC	HGNC:22944	protein_coding	YES	CCDS7693.1	ENSP00000309767	P59044		UPI00001AEFE1	NM_138329.2			7/8		hmmpanther:PTHR24106:SF3,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	80	284575	284575	CCCGCCC	-	1	0	1	0	1	0	0	0	0	10519	739	26	0		0	NLRP6	11	284575	Frame_Shift_Del	DEL	CCCGCCC	C3N-01488_TP		284575	134802047	323	26287											
CDHR5	0	.	GRCh38	chr11	621374	621374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccagaaggtcatgttcgGccgctcgtagaagtccaggg	9	7	14	11	3	1	2	1	0	0	2	4	2	2	2	3	3	1	3	3	3	3	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.589C>A	p.Pro197Thr	p.P197T	ENST00000358353	7/16	211	171	40	259	258	1	strelka-varscan-mutect	CDHR5,missense_variant,p.Pro197Thr,ENST00000358353,;CDHR5,missense_variant,p.Pro197Thr,ENST00000397542,NM_001171968.1,NM_021924.4;CDHR5,missense_variant,p.Pro197Thr,ENST00000349570,NM_031264.3;CDHR5,missense_variant,p.Pro166Thr,ENST00000526077,;CDHR5,downstream_gene_variant,,ENST00000534311,;CDHR5,downstream_gene_variant,,ENST00000531088,;CDHR5,downstream_gene_variant,,ENST00000529337,;CDHR5,upstream_gene_variant,,ENST00000532949,;CDHR5,3_prime_UTR_variant,,ENST00000531177,;CDHR5,non_coding_transcript_exon_variant,,ENST00000531899,;	T	ENST00000358353	Transcript	missense_variant	912/3635	589/2538	197/845	P/T	Ccg/Acg		1		-1	CDHR5	HGNC	HGNC:7521	protein_coding	YES	CCDS7707.1	ENSP00000351118	Q9HBB8		UPI0000456444		tolerated(0.32)		7/16		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF313,hmmpanther:PTHR24027,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	621374	621374	G	T	1	0	0	0	0	1	0	0	0	2825	1203	42	2		2	CDHR5	11	621374	Missense_Mutation	SNP	G	C3N-01488_TP	336799	621374	134465248	324	26288											
MUC5AC	0	.	GRCh38	chr11	1162011	1162011	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccggcctctgcaactacGtgttctccgagcactgcggt	5	10	10	16	4	2	0	0	0	2	0	4	1	3	0	4	2	5	3	4	2	2	2	rs371261781		C3N-01488_TP	C3N-01488_NB	G	G																c.316G>C	p.Val106Leu	p.V106L	ENST00000621226	4/49	382	321	61	426	426	0	strelka-varscan-mutect	MUC5AC,missense_variant,p.Val106Leu,ENST00000621226,NM_001304359.1;	C	ENST00000621226	Transcript	missense_variant	363/17448	316/16965	106/5654	V/L	Gtg/Ctg	rs371261781	1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	deleterious(0.01)		4/49		Pfam_domain:PF00094,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF291,SMART_domains:SM00216																	MODERATE	1	SNV	5			1										PASS		rs371261781	.												C	3	2	80	1162011	1162011	G	C	1	0	0	0	0	1	0	0	0	9978	1145	40	4		4	MUC5AC	11	1162011	Missense_Mutation	SNP	G	C3N-01488_TP	540637	1162011	133924611	325	26289											
DUSP8	0	.	GRCh38	chr11	1557793	1557793	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcgactggggaaggtggtaCctgtaggcgtcgtcggagga	7	7	19	8	5	0	0	0	0	0	0	2	4	0	3	1	7	1	2	1	7	3	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.821+1G>T		p.X274_splice	ENST00000397374		156	131	25	187	187	0	strelka-varscan-mutect	DUSP8,splice_donor_variant,,ENST00000397374,NM_004420.2;DUSP8,splice_donor_variant,,ENST00000331588,;DUSP8,splice_donor_variant,,ENST00000528778,;	A	ENST00000397374	Transcript	splice_donor_variant	-/4480	821/1878	274/625				1		-1	DUSP8	HGNC	HGNC:3074	protein_coding	YES	CCDS7724.1	ENSP00000380530	Q13202		UPI000000DAD1	NM_004420.2				6/6																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	80	1557793	1557793	C	A	1	0	0	0	0	0	0	1	0	4653	521	18	2		2	DUSP8	11	1557793	Splice_Site	SNP	C	C3N-01488_TP	395782	1557793	133528829	326	26290											
DUSP8	0	.	GRCh38	chr11	1565734	1565734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactccacgaaggagcggctGtcgatgaccagcggcccccc	8	5	12	16	4	0	1	0	1	0	0	2	4	1	2	5	3	3	1	5	3	2	1	rs61732130		C3N-01488_TP	C3N-01488_NB	G	G																c.93C>A	p.Asp31Glu	p.D31E	ENST00000397374	2/7	205	164	41	236	236	0	strelka-varscan-mutect	DUSP8,missense_variant,p.Asp31Glu,ENST00000397374,NM_004420.2;DUSP8,missense_variant,p.Asp31Glu,ENST00000331588,;	T	ENST00000397374	Transcript	missense_variant	221/4480	93/1878	31/625	D/E	gaC/gaA	rs61732130	1		-1	DUSP8	HGNC	HGNC:3074	protein_coding	YES	CCDS7724.1	ENSP00000380530	Q13202		UPI000000DAD1	NM_004420.2	deleterious(0)		2/7		PROSITE_profiles:PS50206,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF108,Pfam_domain:PF00581,Gene3D:3.40.250.10,SMART_domains:SM00450,Superfamily_domains:SSF52821,Prints_domain:PR01764																	MODERATE	1	SNV	1			1										PASS		rs61732130	.												T	3	4	80	1565734	1565734	G	T	1	0	0	0	0	1	0	0	0	4653	1368	48	2		2	DUSP8	11	1565734	Missense_Mutation	SNP	G	C3N-01488_TP	7941	1565734	133520888	327	26291											
OR51H1	0	.	GRCh38	chr11	4860352	4860352	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatggagagactaacgtcAgtgagagccaagatagaaag	17	5	13	6	1	1	4	1	1	0	4	1	8	1	5	1	1	2	0	1	1	4	2	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.213T>A	p.=	p.T71T	ENST00000322059	1/1	159	122	37	239	239	0	strelka-varscan-mutect	OR51H1,synonymous_variant,p.=,ENST00000322059,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	T	ENST00000322059	Transcript	synonymous_variant	213/909	213/909	71/302	T	acT/acA		1		-1	OR51H1	HGNC	HGNC:14833	protein_coding	YES		ENSP00000322724	Q8NH63	A0A126GVH7	UPI0000061F03				1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF53,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW		SNV				1										PASS		.	.												T	2	4	80	4860352	4860352	A	T	1	0	0	0	0	0	0	0	1	11172	175	7	4		4	OR51H1	11	4860352	Silent	SNP	A	C3N-01488_TP	3294618	4860352	130226270	328	26292											
OR51G2	0	.	GRCh38	chr11	4915156	4915156	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagccacaataggggaatcTtttgagcataaaaggtaatg	15	9	12	5	0	1	1	0	1	1	0	1	3	1	3	1	4	2	2	1	4	6	5			C3N-01488_TP	C3N-01488_NB	T	T																c.508A>G	p.Arg170Gly	p.R170G	ENST00000322013	1/1	259	223	36	369	369	0	strelka-varscan-mutect	OR51G2,missense_variant,p.Arg170Gly,ENST00000322013,NM_001005238.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	C	ENST00000322013	Transcript	missense_variant	508/945	508/945	170/314	R/G	Aga/Gga	COSM4192742	1		-1	OR51G2	HGNC	HGNC:15198	protein_coding	YES	CCDS31365.1	ENSP00000322593	Q8NGK0		UPI0000041C2F	NM_001005238.1	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF133,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						MODERATE		SNV			1	1										PASS		.	.												C	3	2	80	4915156	4915156	T	C	1	0	0	0	0	1	0	0	0	11171	1617	56	5		5	OR51G2	11	4915156	Missense_Mutation	SNP	T	C3N-01488_TP	54804	4915156	130171466	329	26293											
OR51B4	0	.	GRCh38	chr11	5301230	5301230	+	Frame_Shift_Del	DEL	G	G	-																															aggacacagctaatatgggaGacacaagtgttgagagattt																								rs375187554		C3N-01488_TP	C3N-01488_NB	G	G																c.717delC	p.Ser240ProfsTer7	p.S240Pfs*7	ENST00000380224	1/1	129	108	21	261	261	0	sindel-varindel-pindel	OR51B4,frameshift_variant,p.Ser240ProfsTer7,ENST00000380224,NM_033179.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,downstream_gene_variant,,ENST00000420465,;	-	ENST00000380224	Transcript	frameshift_variant	767/983	717/933	239/310	V/X	gtC/gt	rs375187554	1		-1	OR51B4	HGNC	HGNC:14708	protein_coding	YES	CCDS7757.1	ENSP00000369573	Q9Y5P0		UPI0000041B31	NM_033179.2			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF154,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	HIGH		deletion				1										PASS		.	.												-	7	5	80	5301230	5301230	G	-	1	0	1	0	1	0	0	0	0	11164	929	33	0		0	OR51B4	11	5301230	Frame_Shift_Del	DEL	G	C3N-01488_TP	386074	5301230	129785392	330	26294											
OR5P2	0	.	GRCh38	chr11	7796840	7796840	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgctgagattaccagataGgatgatcatgaagaggatga	15	10	12	4	0	1	6	1	4	0	3	1	9	1	8	1	2	2	1	1	2	4	3	rs201603694		C3N-01488_TP	C3N-01488_NB	G	G																c.103C>A	p.Leu35Ile	p.L35I	ENST00000329434	1/1	144	136	8	220	218	2	varscan-mutect	OR5P2,missense_variant,p.Leu35Ile,ENST00000329434,NM_153444.1;RP11-35J10.5,intron_variant,,ENST00000527565,;RP11-494M8.4,intron_variant,,ENST00000529488,;	T	ENST00000329434	Transcript	missense_variant	134/1069	103/969	35/322	L/I	Cta/Ata	rs201603694	1		-1	OR5P2	HGNC	HGNC:14783	protein_coding	YES	CCDS7782.1	ENSP00000331823	Q8WZ92	A0A126GVJ7	UPI00000015AC	NM_153444.1	deleterious(0.04)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF179,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		rs201603694	.												T	3	4	80	7796840	7796840	G	T	1	0	0	0	0	1	0	0	0	11247	991	35	2		2	OR5P2	11	7796840	Missense_Mutation	SNP	G	C3N-01488_TP	2495610	7796840	127289782	331	26295											
SBF2	0	.	GRCh38	chr11	10002640	10002640	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagaatggaagagaacCttattttctgtgaggactgc	11	12	11	7	0	1	3	0	1	1	2	1	6	1	5	1	2	3	1	1	2	4	4	rs778821017		C3N-01488_TP	C3N-01488_NB	C	C																c.669G>T	p.Lys223Asn	p.K223N	ENST00000256190	7/40	299	248	51	480	479	1	strelka-varscan-mutect	SBF2,missense_variant,p.Lys223Asn,ENST00000256190,NM_030962.3;SBF2,non_coding_transcript_exon_variant,,ENST00000527019,;SBF2,non_coding_transcript_exon_variant,,ENST00000533770,;	A	ENST00000256190	Transcript	missense_variant	807/7439	669/5550	223/1849	K/N	aaG/aaT	rs778821017	1		-1	SBF2	HGNC	HGNC:2135	protein_coding	YES	CCDS31427.1	ENSP00000256190	Q86WG5		UPI00000622D5	NM_030962.3	deleterious(0)		7/40		Pfam_domain:PF02141,PROSITE_profiles:PS50211,SMART_domains:SM00799																	MODERATE	1	SNV	1			1										PASS		rs778821017	.												A	3	1	80	10002640	10002640	C	A	1	0	0	0	0	1	0	0	0	14123	680	24	2		2	SBF2	11	10002640	Missense_Mutation	SNP	C	C3N-01488_TP	2205800	10002640	125083982	332	26296											
DKK3	0	.	GRCh38	chr11	11965946	11965946	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctccacgggcaggggtgtGcacacagggaacagcaggcc	9	3	15	14	1	0	0	0	0	0	0	1	1	1	1	3	5	3	3	3	5	1	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.693C>A	p.Cys231Ter	p.C231*	ENST00000396505	7/8	110	89	21	120	120	0	strelka-varscan-mutect	DKK3,stop_gained,p.Cys231Ter,ENST00000396505,NM_015881.5;DKK3,stop_gained,p.Cys231Ter,ENST00000326932,NM_001018057.1,NM_013253.4;DKK3,stop_gained,p.Cys231Ter,ENST00000525493,;DKK3,stop_gained,p.Cys231Ter,ENST00000533813,;DKK3,downstream_gene_variant,,ENST00000534511,;DKK3,downstream_gene_variant,,ENST00000529338,;DKK3,non_coding_transcript_exon_variant,,ENST00000532873,;DKK3,non_coding_transcript_exon_variant,,ENST00000528188,;DKK3,non_coding_transcript_exon_variant,,ENST00000525927,;DKK3,intron_variant,,ENST00000527132,;DKK3,non_coding_transcript_exon_variant,,ENST00000532372,;	T	ENST00000396505	Transcript	stop_gained	932/2650	693/1053	231/350	C/*	tgC/tgA		1		-1	DKK3	HGNC	HGNC:2893	protein_coding	YES	CCDS7808.1	ENSP00000379762	Q9UBP4		UPI00001694CA	NM_015881.5			7/8		hmmpanther:PTHR12113:SF8,hmmpanther:PTHR12113,Gene3D:2.10.80.10																	HIGH	1	SNV	1			1										PASS		rs946901457	.												T	4	4	80	11965946	11965946	G	T	1	0	0	0	0	0	1	0	0	4352	1311	46	2		2	DKK3	11	11965946	Nonsense_Mutation	SNP	G	C3N-01488_TP	1963306	11965946	123120676	333	26297											
KCNA4	0	.	GRCh38	chr11	30011802	30011802	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattcaaagaggagccaaaTctgctttttaaattcattct	14	15	5	7	0	4	1	2	0	2	1	4	2	4	2	1	1	2	1	1	1	5	7	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.877A>T	p.Ile293Phe	p.I293F	ENST00000328224	2/2	179	166	13	231	231	0	strelka-varscan-mutect	KCNA4,missense_variant,p.Ile293Phe,ENST00000328224,NM_002233.3;KCNA4,downstream_gene_variant,,ENST00000526518,;	A	ENST00000328224	Transcript	missense_variant	2111/4172	877/1962	293/653	I/F	Att/Ttt		1		-1	KCNA4	HGNC	HGNC:6222	protein_coding	YES	CCDS41629.1	ENSP00000328511	P22459		UPI00001649FF	NM_002233.3	tolerated(0.19)		2/2		Gene3D:1.20.120.350,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF45																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	30011802	30011802	T	A	1	0	0	0	0	1	0	0	0	7921	1435	50	4		4	KCNA4	11	30011802	Missense_Mutation	SNP	T	C3N-01488_TP	18045856	30011802	105074820	334	26298											
KCNA4	0	.	GRCh38	chr11	30012115	30012115	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagagttttcatttgggtCtcaaagcgtaggcctgacac	9	11	11	10	1	2	2	2	1	1	1	3	2	2	2	2	2	1	2	2	2	2	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.564G>T	p.Glu188Asp	p.E188D	ENST00000328224	2/2	217	184	33	258	258	0	strelka-varscan-mutect	KCNA4,missense_variant,p.Glu188Asp,ENST00000328224,NM_002233.3;KCNA4,downstream_gene_variant,,ENST00000526518,;	A	ENST00000328224	Transcript	missense_variant	1798/4172	564/1962	188/653	E/D	gaG/gaT		1		-1	KCNA4	HGNC	HGNC:6222	protein_coding	YES	CCDS41629.1	ENSP00000328511	P22459		UPI00001649FF	NM_002233.3	deleterious(0)		2/2		Gene3D:3.30.710.10,Pfam_domain:PF02214,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF45,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		rs1358787949	.												A	3	1	80	30012115	30012115	C	A	1	0	0	0	0	1	0	0	0	7921	912	32	2		2	KCNA4	11	30012115	Missense_Mutation	SNP	C	C3N-01488_TP	313	30012115	105074507	335	26299											
QSER1	0	.	GRCh38	chr11	32935316	32935316	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgaacttaaaaacttggAacatttatcttcattttctt	14	18	3	6	0	3	1	1	1	2	0	3	2	3	2	0	1	3	0	0	1	7	9	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.3671A>T	p.Glu1224Val	p.E1224V	ENST00000399302	4/13	149	128	21	237	237	0	strelka-varscan-mutect	QSER1,missense_variant,p.Glu1224Val,ENST00000399302,NM_001076786.2;QSER1,missense_variant,p.Glu985Val,ENST00000527788,;QSER1,missense_variant,p.Glu245Val,ENST00000524678,;QSER1,downstream_gene_variant,,ENST00000528155,;QSER1,downstream_gene_variant,,ENST00000527250,;	T	ENST00000399302	Transcript	missense_variant	4006/9335	3671/5208	1224/1735	E/V	gAa/gTa		1		1	QSER1	HGNC	HGNC:26154	protein_coding	YES	CCDS41631.1	ENSP00000382241	Q2KHR3		UPI0000E467AF	NM_001076786.2	deleterious(0)		4/13		hmmpanther:PTHR14709:SF2,hmmpanther:PTHR14709																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	32935316	32935316	A	T	1	0	0	0	0	1	0	0	0	13037	246	9	4		4	QSER1	11	32935316	Missense_Mutation	SNP	A	C3N-01488_TP	2923201	32935316	102151306	336	26300											
TTC17	0	.	GRCh38	chr11	43391481	43391481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtcctgaagattatataGacacagaatctcctgtccct	12	13	6	10	0	1	4	0	1	1	3	4	4	3	4	3	0	0	0	3	0	6	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.436G>T	p.Asp146Tyr	p.D146Y	ENST00000039989	4/24	187	156	31	279	279	0	strelka-varscan-mutect	TTC17,missense_variant,p.Asp146Tyr,ENST00000039989,NM_018259.5;TTC17,missense_variant,p.Asp146Tyr,ENST00000299240,NM_001307943.1;RP11-484D2.4,intron_variant,,ENST00000394183,;TTC17,upstream_gene_variant,,ENST00000526774,;TTC17,3_prime_UTR_variant,,ENST00000534347,;TTC17,non_coding_transcript_exon_variant,,ENST00000530469,;	T	ENST00000039989	Transcript	missense_variant	450/4469	436/3426	146/1141	D/Y	Gac/Tac		1		1	TTC17	HGNC	HGNC:25596	protein_coding	YES	CCDS31466.1	ENSP00000039989	Q96AE7		UPI000006E6C7	NM_018259.5	deleterious(0)		4/24		hmmpanther:PTHR16091																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	43391481	43391481	G	T	1	0	0	0	0	1	0	0	0	17193	942	33	2		2	TTC17	11	43391481	Missense_Mutation	SNP	G	C3N-01488_TP	10456165	43391481	91695141	337	26301											
DGKZ	0	.	GRCh38	chr11	46377183	46377183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaacccccacttcccctctCcccacctcaccctgctcacc	6	7	1	27	0	3	0	2	0	1	0	5	0	4	0	10	0	2	1	10	0	1	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.2877C>T	p.=	p.L959L	ENST00000454345	26/32	91	70	21	88	88	0	strelka-varscan-mutect	DGKZ,synonymous_variant,p.=,ENST00000454345,NM_001105540.1;DGKZ,synonymous_variant,p.=,ENST00000343674,NM_201532.2;DGKZ,synonymous_variant,p.=,ENST00000456247,NM_001199267.1;DGKZ,synonymous_variant,p.=,ENST00000527911,NM_001199266.1;DGKZ,synonymous_variant,p.=,ENST00000318201,NM_001199268.1;DGKZ,synonymous_variant,p.=,ENST00000532868,NM_201533.3;DGKZ,synonymous_variant,p.=,ENST00000421244,NM_003646.3;DGKZ,synonymous_variant,p.=,ENST00000528615,;MDK,upstream_gene_variant,,ENST00000405308,NM_001270550.1;MDK,upstream_gene_variant,,ENST00000407067,NM_001270551.1;MDK,upstream_gene_variant,,ENST00000359803,NM_001012334.2;MDK,upstream_gene_variant,,ENST00000395565,NM_001012333.2;MDK,upstream_gene_variant,,ENST00000395566,NM_002391.4;MDK,upstream_gene_variant,,ENST00000395569,NM_001270552.1;MDK,upstream_gene_variant,,ENST00000617138,;DGKZ,downstream_gene_variant,,ENST00000524869,;MDK,upstream_gene_variant,,ENST00000441869,;MDK,upstream_gene_variant,,ENST00000533952,;MIR4688,downstream_gene_variant,,ENST00000577966,;DGKZ,non_coding_transcript_exon_variant,,ENST00000529660,;MDK,upstream_gene_variant,,ENST00000533283,;DGKZ,3_prime_UTR_variant,,ENST00000524984,;DGKZ,non_coding_transcript_exon_variant,,ENST00000528173,;DGKZ,non_coding_transcript_exon_variant,,ENST00000527211,;DGKZ,non_coding_transcript_exon_variant,,ENST00000531879,;DGKZ,non_coding_transcript_exon_variant,,ENST00000529698,;DGKZ,upstream_gene_variant,,ENST00000534802,;MDK,upstream_gene_variant,,ENST00000489525,;MDK,upstream_gene_variant,,ENST00000481047,;DGKZ,upstream_gene_variant,,ENST00000532941,;DGKZ,downstream_gene_variant,,ENST00000527903,;MDK,upstream_gene_variant,,ENST00000490240,;	T	ENST00000454345	Transcript	synonymous_variant	3002/4086	2877/3354	959/1117	L	ctC/ctT		1		1	DGKZ	HGNC	HGNC:2857	protein_coding	YES	CCDS41640.1	ENSP00000412178	Q13574		UPI000013DB71	NM_001105540.1			26/32		hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF43,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1156856577	.												T	2	4	80	46377183	46377183	C	T	1	0	0	0	0	0	0	0	1	4280	842	30	3		3	DGKZ	11	46377183	Silent	SNP	C	C3N-01488_TP	2985702	46377183	88709439	338	26302											
TRIM49B	0	.	GRCh38	chr11	49031999	49031999	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccattgagtcggctgctGaggaacaccaggtaagtgat	10	9	13	9	1	0	3	0	3	0	0	2	4	1	4	2	3	2	3	2	3	2	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.400G>T	p.Glu134Ter	p.E134*	ENST00000622138	3/8	268	224	44	377	376	1	strelka-varscan-mutect	TRIM49B,stop_gained,p.Glu134Ter,ENST00000622138,;TRIM49B,stop_gained,p.Glu134Ter,ENST00000332682,NM_001206626.1;	T	ENST00000622138	Transcript	stop_gained	729/2162	400/1359	134/452	E/*	Gag/Tag		1		1	TRIM49B	HGNC	HGNC:42955	protein_coding	YES	CCDS55762.1	ENSP00000481457	A6NDI0		UPI000013EEA1				3/8		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,Superfamily_domains:SSF57845																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	80	49031999	49031999	G	T	1	0	0	0	0	0	1	0	0	17015	1291	45	2		2	TRIM49B	11	49031999	Nonsense_Mutation	SNP	G	C3N-01488_TP	2654816	49031999	86054623	339	26303											
TRIM49B	0	.	GRCh38	chr11	49037910	49037910	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttaatcaaagctccctaaTatacaccatccctaattgct	13	13	3	12	0	1	0	1	0	0	0	3	0	3	0	3	0	3	3	3	0	6	6	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.1292T>C	p.Ile431Thr	p.I431T	ENST00000622138	8/8	159	132	27	265	265	0	strelka-varscan-mutect	TRIM49B,missense_variant,p.Ile431Thr,ENST00000622138,;TRIM49B,missense_variant,p.Ile431Thr,ENST00000332682,NM_001206626.1;	C	ENST00000622138	Transcript	missense_variant	1621/2162	1292/1359	431/452	I/T	aTa/aCa		1		1	TRIM49B	HGNC	HGNC:42955	protein_coding	YES	CCDS55762.1	ENSP00000481457	A6NDI0		UPI000013EEA1		deleterious(0)		8/8		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	80	49037910	49037910	T	C	1	0	0	0	0	1	0	0	0	17015	1406	49	5		5	TRIM49B	11	49037910	Missense_Mutation	SNP	T	C3N-01488_TP	5911	49037910	86048712	340	26304											
OR4A5	0	.	GRCh38	chr11	54707692	54707692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgataagttcatgactGtgttttataccattatcaca	12	16	5	8	0	2	2	2	2	0	0	2	2	2	2	1	0	2	2	1	0	5	7	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.808G>T	p.Val270Leu	p.V270L	ENST00000319760	1/1	132	115	17	179	179	0	strelka-varscan-mutect	OR4A5,missense_variant,p.Val270Leu,ENST00000319760,NM_001005272.3;	T	ENST00000319760	Transcript	missense_variant	808/948	808/948	270/315	V/L	Gtg/Ttg		1		1	OR4A5	HGNC	HGNC:15162	protein_coding	YES	CCDS73289.1	ENSP00000367664	Q8NH83	A0A126GWJ2	UPI0000041D58	NM_001005272.3	tolerated_low_confidence(0.05)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF306,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	80	54707692	54707692	G	T	1	0	0	0	0	1	0	0	0	11120	1377	48	2		2	OR4A5	11	54707692	Missense_Mutation	SNP	G	C3N-01488_TP	5669782	54707692	80378930	341	26305											
OR5L2	0	.	GRCh38	chr11	55827389	55827389	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcagctctcggctccacacCcccgtgtactttttcctcag	5	12	7	17	2	3	0	2	0	1	0	6	0	5	0	4	1	2	3	4	1	1	3			C3N-01488_TP	C3N-01488_NB	C	C																c.171C>A	p.=	p.T57T	ENST00000378397	1/1	191	147	44	299	299	0	strelka-varscan-mutect	OR5L2,synonymous_variant,p.=,ENST00000378397,NM_001004739.1;	A	ENST00000378397	Transcript	synonymous_variant	171/936	171/936	57/311	T	acC/acA	COSM3449048	1		1	OR5L2	HGNC	HGNC:8351	protein_coding	YES	CCDS31511.1	ENSP00000367650	Q8NGL0		UPI0000041C49	NM_001004739.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF368,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											1						LOW	1	SNV			1	1										PASS		.	.												A	2	1	80	55827389	55827389	C	A	1	0	0	0	0	0	0	0	1	11240	610	22	2		2	OR5L2	11	55827389	Silent	SNP	C	C3N-01488_TP	1119697	55827389	79259233	342	26306											
OR5L2	0	.	GRCh38	chr11	55827562	55827562	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcactgaggtcttcctgcTggccgtgatggcctatgacc	6	11	12	12	1	2	3	1	3	1	0	3	3	3	3	4	3	1	1	4	3	1	2	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.344T>A	p.Leu115Gln	p.L115Q	ENST00000378397	1/1	233	196	37	359	359	0	strelka-varscan-mutect	OR5L2,missense_variant,p.Leu115Gln,ENST00000378397,NM_001004739.1;	A	ENST00000378397	Transcript	missense_variant	344/936	344/936	115/311	L/Q	cTg/cAg		1		1	OR5L2	HGNC	HGNC:8351	protein_coding	YES	CCDS31511.1	ENSP00000367650	Q8NGL0		UPI0000041C49	NM_001004739.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF368,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	80	55827562	55827562	T	A	1	0	0	0	0	1	0	0	0	11240	1580	55	4		4	OR5L2	11	55827562	Missense_Mutation	SNP	T	C3N-01488_TP	173	55827562	79259060	343	26307											
OR5W2	0	.	GRCh38	chr11	55913792	55913792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgatctagagaataggaaGaacttggccggaaatacata	16	9	10	6	1	1	3	0	1	1	2	1	6	1	5	1	3	2	0	1	3	8	6	rs754041941		C3N-01488_TP	C3N-01488_NB	G	G																c.791C>T	p.Ser264Phe	p.S264F	ENST00000344514	1/1	240	201	39	363	362	1	strelka-varscan-mutect	OR5W2,missense_variant,p.Ser264Phe,ENST00000344514,NM_001001960.1;	A	ENST00000344514	Transcript	missense_variant	791/933	791/933	264/310	S/F	tCt/tTt	rs754041941,COSM543350	1		-1	OR5W2	HGNC	HGNC:15299	protein_coding	YES	CCDS31513.1	ENSP00000342448	Q8NH69		UPI0000061E8D	NM_001001960.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF58,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs754041941	.												A	3	1	80	55913792	55913792	G	A	1	0	0	0	0	1	0	0	0	11253	942	33	3		3	OR5W2	11	55913792	Missense_Mutation	SNP	G	C3N-01488_TP	86230	55913792	79172830	344	26308											
OR5T2	0	.	GRCh38	chr11	56232645	56232645	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcattgatgagtggcaTgtagactctgggtgacatgc	10	10	15	6	0	1	4	0	3	1	1	1	5	1	5	0	3	2	3	0	3	2	2	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.541A>T	p.Met181Leu	p.M181L	ENST00000313264	1/1	127	107	20	190	190	0	strelka-varscan-mutect	OR5T2,missense_variant,p.Met181Leu,ENST00000313264,NM_001004746.1;	A	ENST00000313264	Transcript	missense_variant	541/1080	541/1080	181/359	M/L	Atg/Ttg		1		-1	OR5T2	HGNC	HGNC:15296	protein_coding	YES	CCDS31523.1	ENSP00000323688	Q8NGG2		UPI0000061E97	NM_001004746.1	tolerated(0.19)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF119,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1435243679	.												A	3	1	80	56232645	56232645	T	A	1	0	0	0	0	1	0	0	0	11250	1464	51	4		4	OR5T2	11	56232645	Missense_Mutation	SNP	T	C3N-01488_TP	318853	56232645	78853977	345	26309											
OR5M11	0	.	GRCh38	chr11	56542937	56542937	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatgtaaaactcagtgagTagaagggcaatgaaaatgta	18	8	11	4	0	1	3	1	2	0	1	1	3	1	3	0	1	2	5	0	1	8	3	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.321A>T	p.=	p.L107L	ENST00000528616	1/1	197	162	35	286	282	4	strelka-varscan-mutect	OR5M11,synonymous_variant,p.=,ENST00000528616,NM_001005245.1;	A	ENST00000528616	Transcript	synonymous_variant	321/918	321/918	107/305	L	ctA/ctT		1		-1	OR5M11	HGNC	HGNC:15291	protein_coding	YES	CCDS53629.1	ENSP00000432417	Q96RB7	A0A126GVL9	UPI00000405CF	NM_001005245.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF97,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												A	2	1	80	56542937	56542937	T	A	1	0	0	0	0	0	0	0	1	11243	1625	57	4		4	OR5M11	11	56542937	Silent	SNP	T	C3N-01488_TP	310292	56542937	78543685	346	26310											
CLP1	0	.	GRCh38	chr11	57660981	57660981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacctcccccactttgtaCgcactgtgctgctccctaaa	7	10	8	16	1	0	0	0	0	0	0	2	1	2	1	4	1	3	4	4	1	3	3	rs539245351		C3N-01488_TP	C3N-01488_NB	C	C																c.823C>T	p.Arg275Cys	p.R275C	ENST00000533682	3/3	209	163	46	247	247	0	strelka-varscan-mutect	CLP1,missense_variant,p.Arg275Cys,ENST00000533682,;CLP1,missense_variant,p.Arg286Cys,ENST00000529430,;CLP1,missense_variant,p.Arg211Cys,ENST00000302731,NM_001142597.1;CLP1,missense_variant,p.Arg275Cys,ENST00000525602,NM_006831.2;CLP1,downstream_gene_variant,,ENST00000529773,;CLP1,downstream_gene_variant,,ENST00000533905,;	T	ENST00000533682	Transcript	missense_variant	1548/2435	823/1278	275/425	R/C	Cgc/Tgc	rs539245351	1		1	CLP1	HGNC	HGNC:16999	protein_coding	YES	CCDS7964.1	ENSP00000434995	Q92989		UPI000012754A		deleterious(0)		3/3		HAMAP:MF_03035,hmmpanther:PTHR12755,Gene3D:3.40.50.300,Pfam_domain:PF16575,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs539245351	.												T	3	4	80	57660981	57660981	C	T	1	0	0	0	0	1	0	0	0	3320	536	19	1		1	CLP1	11	57660981	Missense_Mutation	SNP	C	C3N-01488_TP	1118044	57660981	77425641	347	26311											
SLC22A10	0	.	GRCh38	chr11	63302521	63302521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgggcctttccattttGgccaacacgtttgtgcccaa	6	13	10	12	1	0	0	0	0	0	0	1	0	1	0	4	3	2	1	4	3	2	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1263G>T	p.Leu421Phe	p.L421F	ENST00000332793	7/10	210	171	39	320	319	1	strelka-varscan-mutect	SLC22A10,missense_variant,p.Leu421Phe,ENST00000332793,NM_001039752.3;SLC22A10,intron_variant,,ENST00000526800,;SLC22A10,intron_variant,,ENST00000525620,;SLC22A10,intron_variant,,ENST00000533483,;SLC22A10,intron_variant,,ENST00000532724,;	T	ENST00000332793	Transcript	missense_variant	1265/2026	1263/1626	421/541	L/F	ttG/ttT		1		1	SLC22A10	HGNC	HGNC:18057	protein_coding	YES	CCDS41661.1	ENSP00000327569	Q63ZE4		UPI0000D62620	NM_001039752.3	deleterious(0.02)		7/10		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF217,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	80	63302521	63302521	G	T	1	0	0	0	0	1	0	0	0	14707	1339	47	2		2	SLC22A10	11	63302521	Missense_Mutation	SNP	G	C3N-01488_TP	5641540	63302521	71784101	348	26312											
FLRT1	0	.	GRCh38	chr11	64117690	64117690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgcgcctgggccacagcCcagccgtgggctccatcacg	5	5	14	17	3	1	0	1	0	0	0	2	0	2	0	5	3	3	2	5	3	0	0	rs771778580		C3N-01488_TP	C3N-01488_NB	C	C																c.1423C>A	p.Pro475Thr	p.P475T	ENST00000246841	2/2	96	74	22	136	135	1	strelka-varscan-mutect	FLRT1,missense_variant,p.Pro475Thr,ENST00000246841,NM_013280.4;MACROD1,intron_variant,,ENST00000255681,NM_014067.3;RP11-21A7A.3,downstream_gene_variant,,ENST00000543817,;MACROD1,intron_variant,,ENST00000542359,;MACROD1,intron_variant,,ENST00000543422,;MACROD1,intron_variant,,ENST00000545464,;	A	ENST00000246841	Transcript	missense_variant	2466/3949	1423/2025	475/674	P/T	Cca/Aca	rs771778580	1		1	FLRT1	HGNC	HGNC:3760	protein_coding	YES	CCDS8057.1	ENSP00000246841	Q9NZU1		UPI0000039F94	NM_013280.4	tolerated(1)		2/2		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF30,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs771778580	.												A	3	1	80	64117690	64117690	C	A	1	0	0	0	0	1	0	0	0	5794	623	22	2		2	FLRT1	11	64117690	Missense_Mutation	SNP	C	C3N-01488_TP	815169	64117690	70968932	349	26313											
CABP2	0	.	GRCh38	chr11	67520153	67520153	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcttcaaagtccaccttTccgccacctgggggtcccgt	7	10	9	15	2	2	0	1	0	1	0	5	0	5	0	6	2	0	0	6	2	2	2	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.387A>T	p.=	p.G129G	ENST00000294288	5/7	97	77	20	124	124	0	strelka-varscan-mutect	CABP2,synonymous_variant,p.=,ENST00000636477,;CABP2,synonymous_variant,p.=,ENST00000294288,NM_016366.2;CABP2,synonymous_variant,p.=,ENST00000353903,;CABP2,3_prime_UTR_variant,,ENST00000545205,NM_001318496.1;	A	ENST00000294288	Transcript	synonymous_variant	457/925	387/663	129/220	G	ggA/ggT		1		-1	CABP2	HGNC	HGNC:1385	protein_coding	YES	CCDS8170.1	ENSP00000294288	Q9NPB3		UPI000013E147	NM_016366.2			5/7		PROSITE_profiles:PS50222,hmmpanther:PTHR23050:SF21,hmmpanther:PTHR23050,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	80	67520153	67520153	T	A	1	0	0	0	0	0	0	0	1	2218	1770	62	4		4	CABP2	11	67520153	Silent	SNP	T	C3N-01488_TP	3402463	67520153	67566469	350	26314											
EMSY	0	.	GRCh38	chr11	76544272	76544272	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttaggcattaagcagtcAcactgcttttaccaaacaca	14	11	5	11	0	1	0	1	0	0	0	1	0	1	0	1	1	5	3	1	1	5	5	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.2768A>T	p.His923Leu	p.H923L	ENST00000524767	19/21	53	41	12	128	128	0	strelka-varscan-mutect	EMSY,missense_variant,p.His908Leu,ENST00000529032,;EMSY,missense_variant,p.His908Leu,ENST00000334736,NM_020193.4;EMSY,missense_variant,p.His909Leu,ENST00000525038,NM_001300944.1;EMSY,missense_variant,p.His923Leu,ENST00000524767,NM_001300942.1;EMSY,missense_variant,p.His909Leu,ENST00000525919,NM_001300943.1;EMSY,missense_variant,p.His810Leu,ENST00000524490,;EMSY,missense_variant,p.His817Leu,ENST00000533248,;EMSY,missense_variant,p.His48Leu,ENST00000532719,;EMSY,missense_variant,p.His180Leu,ENST00000524451,;EMSY,upstream_gene_variant,,ENST00000531793,;EMSY,non_coding_transcript_exon_variant,,ENST00000531641,;EMSY,non_coding_transcript_exon_variant,,ENST00000534573,;	T	ENST00000524767	Transcript	missense_variant	2807/4116	2768/4014	923/1337	H/L	cAc/cTc		1		1	EMSY	HGNC	HGNC:18071	protein_coding	YES	CCDS73349.1	ENSP00000433205	Q7Z589		UPI000191704B	NM_001300942.1	deleterious_low_confidence(0.01)		19/21		hmmpanther:PTHR16500,hmmpanther:PTHR16500:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	76544272	76544272	A	T	1	0	0	0	0	1	0	0	0	4948	159	6	4		4	EMSY	11	76544272	Missense_Mutation	SNP	A	C3N-01488_TP	9024119	76544272	58542350	351	26315											
B3GNT6	0	.	GRCh38	chr11	77040111	77040111	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcacggcgacgtgctgcAgtgggccttcgcggacacct	6	6	15	14	6	0	0	0	0	0	0	1	3	0	1	2	3	3	3	2	3	0	1	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.560A>T	p.Gln187Leu	p.Q187L	ENST00000622824	2/2	202	153	49	264	264	0	strelka-varscan-mutect	B3GNT6,missense_variant,p.Gln187Leu,ENST00000622824,NM_138706.4;B3GNT6,downstream_gene_variant,,ENST00000528622,;	T	ENST00000622824	Transcript	missense_variant	641/2503	560/1155	187/384	Q/L	cAg/cTg		1		1	B3GNT6	HGNC	HGNC:24141	protein_coding	YES	CCDS53681.1	ENSP00000484640	Q6ZMB0	A8K9Q8	UPI000006D55A	NM_138706.4	deleterious(0.02)		2/2		Pfam_domain:PF01762,hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	77040111	77040111	A	T	1	0	0	0	0	1	0	0	0	1417	188	7	4		4	B3GNT6	11	77040111	Missense_Mutation	SNP	A	C3N-01488_TP	495839	77040111	58046511	352	26316											
TENM4	0	.	GRCh38	chr11	78701921	78701921	+	Frame_Shift_Del	DEL	C	C	-																															ttgaggaaaggcttgttcttCcggataaaccgaattcggat																								novel		C3N-01488_TP	C3N-01488_NB	C	C																c.4692delG	p.Lys1565ArgfsTer65	p.K1565Rfs*65	ENST00000278550	28/34	226	179	47	325	325	0	sindel-varindel-pindel	TENM4,frameshift_variant,p.Lys1565ArgfsTer65,ENST00000278550,NM_001098816.2;TENM4,frameshift_variant,p.Lys29ArgfsTer65,ENST00000530738,;	-	ENST00000278550	Transcript	frameshift_variant	5155/14000	4692/8310	1564/2769	R/X	cgG/cg		1		-1	TENM4	HGNC	HGNC:29945	protein_coding	YES	CCDS44688.1	ENSP00000278550	Q6N022		UPI0000DD8112	NM_001098816.2			28/34		Gene3D:2.120.10.30,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF9,Superfamily_domains:SSF101898,Superfamily_domains:SSF63829																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	80	78701921	78701921	C	-	1	0	1	0	1	0	0	0	0	16174	842	30	0		0	TENM4	11	78701921	Frame_Shift_Del	DEL	C	C3N-01488_TP	1661810	78701921	56384701	353	26317											
FAM181B	0	.	GRCh38	chr11	82732631	82732631	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaggccaaatggccccGcccgtcctccccgccgggag	8	3	13	17	4	0	1	0	0	0	1	2	3	2	2	8	3	0	0	8	3	2	0			C3N-01488_TP	C3N-01488_NB	G	G																c.1099C>A	p.=	p.R367R	ENST00000329203	1/1	76	58	18	92	92	0	strelka-varscan-mutect	FAM181B,synonymous_variant,p.=,ENST00000329203,NM_175885.3;	T	ENST00000329203	Transcript	synonymous_variant	1234/3924	1099/1281	367/426	R	Cgg/Agg	COSM5565798	1		-1	FAM181B	HGNC	HGNC:28512	protein_coding	YES	CCDS31648.1	ENSP00000365295	A6NEQ2		UPI000015FCC7	NM_175885.3			1/1		hmmpanther:PTHR33766,hmmpanther:PTHR33766:SF2											1						LOW	1	SNV			1	1										PASS		.	.												T	2	4	80	82732631	82732631	G	T	1	0	0	0	0	0	0	0	1	5355	1086	38	1		1	FAM181B	11	82732631	Silent	SNP	G	C3N-01488_TP	4030710	82732631	52353991	354	26318											
FAT3	0	.	GRCh38	chr11	92789989	92789989	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgataatggcccagaattctCtcagccgaattacgatgtga	12	11	9	9	2	2	3	1	2	1	1	3	5	2	3	2	1	2	0	2	1	4	3			C3N-01488_TP	C3N-01488_NB	C	C																c.3932C>G	p.Ser1311Cys	p.S1311C	ENST00000525166	7/27	164	151	13	285	285	0	strelka-varscan-mutect	FAT3,missense_variant,p.Ser1461Cys,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Ser1311Cys,ENST00000525166,;	G	ENST00000525166	Transcript	missense_variant	3954/18699	3932/13320	1311/4439	S/C	tCt/tGt	COSM1206610,COSM1206611,COSM4494684,COSM4494685	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		deleterious(0.02)		7/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Superfamily_domains:SSF49313											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		.	.												G	3	3	80	92789989	92789989	C	G	1	0	0	0	0	1	0	0	0	5551	913	32	4		4	FAT3	11	92789989	Missense_Mutation	SNP	C	C3N-01488_TP	10057358	92789989	42296633	355	26319											
DDI1	0	.	GRCh38	chr11	104037551	104037551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttttggacaagtgacgatGctctacattaactgcaaagt	13	12	9	7	1	1	1	0	1	1	0	1	3	1	2	0	1	4	3	0	1	4	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.729G>T	p.Met243Ile	p.M243I	ENST00000302259	1/1	352	305	47	466	464	2	strelka-varscan-mutect	DDI1,missense_variant,p.Met243Ile,ENST00000302259,NM_001001711.2;PDGFD,intron_variant,,ENST00000302251,NM_033135.3;PDGFD,intron_variant,,ENST00000393158,NM_025208.4;PDGFD,upstream_gene_variant,,ENST00000529268,;	T	ENST00000302259	Transcript	missense_variant	972/2609	729/1191	243/396	M/I	atG/atT		1		1	DDI1	HGNC	HGNC:18961	protein_coding	YES	CCDS31660.1	ENSP00000302805	Q8WTU0		UPI0000047AEA	NM_001001711.2	deleterious(0)		1/1		Pfam_domain:PF09668,hmmpanther:PTHR12917,hmmpanther:PTHR12917:SF15,Superfamily_domains:SSF50630																	MODERATE		SNV				1										PASS		.	.												T	3	4	80	104037551	104037551	G	T	1	0	0	0	0	1	0	0	0	4131	1319	46	2		2	DDI1	11	104037551	Missense_Mutation	SNP	G	C3N-01488_TP	11247562	104037551	31049071	356	26320											
ARHGAP20	0	.	GRCh38	chr11	110580940	110580940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcatgatcccgcagtGggatctttgtgtacactaaa	9	11	10	11	1	1	1	0	1	1	0	2	2	2	2	2	2	1	3	2	2	3	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.2006C>T	p.Pro669Leu	p.P669L	ENST00000260283	16/16	138	119	19	217	217	0	strelka-varscan-mutect	ARHGAP20,missense_variant,p.Pro669Leu,ENST00000260283,NM_020809.3;ARHGAP20,missense_variant,p.Pro646Leu,ENST00000524756,NM_001258415.1;ARHGAP20,missense_variant,p.Pro643Leu,ENST00000533353,NM_001258416.1;ARHGAP20,missense_variant,p.Pro633Leu,ENST00000527598,NM_001258418.1;ARHGAP20,missense_variant,p.Pro633Leu,ENST00000528829,NM_001258417.1;ARHGAP20,missense_variant,p.Pro212Leu,ENST00000529591,;	A	ENST00000260283	Transcript	missense_variant	2291/6189	2006/3576	669/1191	P/L	cCa/cTa		1		-1	ARHGAP20	HGNC	HGNC:18357	protein_coding	YES	CCDS31673.1	ENSP00000260283	Q9P2F6		UPI000013D0BA	NM_020809.3	tolerated(0.08)		16/16		hmmpanther:PTHR23179,hmmpanther:PTHR23179:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	110580940	110580940	G	A	1	0	0	0	0	1	0	0	0	994	1348	47	3		3	ARHGAP20	11	110580940	Missense_Mutation	SNP	G	C3N-01488_TP	6543389	110580940	24505682	357	26321											
NCAM1	0	.	GRCh38	chr11	113233260	113233260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcctcaaatacaaagctGagtggagagcagttggtgaa	14	8	11	8	0	1	3	1	2	0	1	2	4	2	3	2	2	3	3	2	2	4	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1714G>A	p.Glu572Lys	p.E572K	ENST00000619839	14/21	205	172	33	251	250	1	strelka-varscan-mutect	NCAM1,missense_variant,p.Glu572Lys,ENST00000615285,;NCAM1,missense_variant,p.Glu546Lys,ENST00000615112,;NCAM1,missense_variant,p.Glu536Lys,ENST00000618266,;NCAM1,missense_variant,p.Glu546Lys,ENST00000316851,NM_181351.4;NCAM1,missense_variant,p.Glu536Lys,ENST00000621518,;NCAM1,missense_variant,p.Glu536Lys,ENST00000621128,NM_001242608.1;NCAM1,missense_variant,p.Glu572Lys,ENST00000619839,NM_001242607.1;NCAM1,missense_variant,p.Glu536Lys,ENST00000531044,NM_000615.6;NCAM1,missense_variant,p.Glu536Lys,ENST00000621850,NM_001076682.3;NCAM1,missense_variant,p.Glu536Lys,ENST00000401611,;NCAM1,missense_variant,p.Glu46Lys,ENST00000533073,;NCAM1,missense_variant,p.Glu81Lys,ENST00000526322,;NCAM1,missense_variant,p.Glu39Lys,ENST00000528590,;NCAM1,missense_variant,p.Glu102Lys,ENST00000530543,;NCAM1,intron_variant,,ENST00000620046,;NCAM1,downstream_gene_variant,,ENST00000613217,;NCAM1,non_coding_transcript_exon_variant,,ENST00000611284,;NCAM1,missense_variant,p.Glu46Lys,ENST00000531817,;NCAM1,non_coding_transcript_exon_variant,,ENST00000525355,;NCAM1,downstream_gene_variant,,ENST00000534046,;	A	ENST00000619839	Transcript	missense_variant	2052/2993	1714/2655	572/884	E/K	Gag/Aag		1		1	NCAM1	HGNC	HGNC:7656	protein_coding	YES	CCDS73384.1	ENSP00000480132		A0A087WWD4	UPI00021269F1	NM_001242607.1	deleterious(0.04)		14/21		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF34,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	80	113233260	113233260	G	A	1	0	0	0	0	1	0	0	0	10218	1291	45	3		3	NCAM1	11	113233260	Missense_Mutation	SNP	G	C3N-01488_TP	2652320	113233260	21853362	358	26322											
DSCAML1	0	.	GRCh38	chr11	117503899	117503899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgcctacgccgttgctggCctggcagaggtagtagccga	6	8	16	11	3	0	1	0	0	0	1	0	2	0	1	4	4	4	5	4	4	3	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.2485G>A	p.Ala829Thr	p.A829T	ENST00000321322	11/33	198	166	32	263	262	1	strelka-varscan-mutect	DSCAML1,missense_variant,p.Ala829Thr,ENST00000321322,NM_020693.3;DSCAML1,missense_variant,p.Ala559Thr,ENST00000527706,;	T	ENST00000321322	Transcript	missense_variant	2487/6899	2485/6342	829/2113	A/T	Gcc/Acc		1		-1	DSCAML1	HGNC	HGNC:14656	protein_coding	YES	CCDS8384.1	ENSP00000315465	Q8TD84		UPI00000726E2	NM_020693.3	deleterious(0.02)		11/33		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	117503899	117503899	C	T	1	0	0	0	0	1	0	0	0	4590	739	26	3		3	DSCAML1	11	117503899	Missense_Mutation	SNP	C	C3N-01488_TP	4270639	117503899	17582723	359	26323											
OR6M1	0	.	GRCh38	chr11	123805779	123805779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttatcttctcaatgaGgtgagtatttatacaggcca	13	14	8	6	0	2	2	1	2	2	0	3	2	2	2	1	2	1	2	1	2	6	7	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.571C>A	p.Leu191Ile	p.L191I	ENST00000309154	1/1	151	126	25	259	259	0	strelka-varscan-mutect	OR6M1,missense_variant,p.Leu191Ile,ENST00000309154,NM_001005325.1;	T	ENST00000309154	Transcript	missense_variant	609/1053	571/942	191/313	L/I	Ctc/Atc		1		-1	OR6M1	HGNC	HGNC:14711	protein_coding	YES	CCDS31696.1	ENSP00000311038	Q8NGM8	A0A126GVK2	UPI000003FE18	NM_001005325.1	tolerated(0.09)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF51,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs748844391	.												T	3	4	80	123805779	123805779	G	T	1	0	0	0	0	1	0	0	0	11274	1000	35	2		2	OR6M1	11	123805779	Missense_Mutation	SNP	G	C3N-01488_TP	6301880	123805779	11280843	360	26324											
OR10S1	0	.	GRCh38	chr11	123976894	123976894	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagatacagacaggtggcacGtagtacaggagcaccccagt	13	6	12	10	1	0	2	0	0	0	2	0	3	0	3	2	3	3	4	2	3	4	4	rs758385131		C3N-01488_TP	C3N-01488_NB	G	G																c.798C>A	p.Tyr266Ter	p.Y266*	ENST00000531945	1/1	172	153	19	204	204	0	strelka-varscan-mutect	OR10S1,stop_gained,p.Tyr266Ter,ENST00000531945,NM_001004474.1;	T	ENST00000531945	Transcript	stop_gained	888/1121	798/996	266/331	Y/*	taC/taA	rs758385131	1		-1	OR10S1	HGNC	HGNC:14807	protein_coding	YES	CCDS31701.1	ENSP00000431914	Q8NGN2		UPI00001A7787	NM_001004474.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF205,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	HIGH	1	SNV				1										PASS		rs758385131	.												T	4	4	80	123976894	123976894	G	T	1	0	0	0	0	0	1	0	0	10995	1140	40	1		1	OR10S1	11	123976894	Nonsense_Mutation	SNP	G	C3N-01488_TP	171115	123976894	11109728	361	26325											
ROBO3	0	.	GRCh38	chr11	124870668	124870668	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagatgagggaacgtacAcctgtgtggcggagaacagt	12	6	15	8	3	0	3	0	1	0	2	0	6	0	4	2	3	3	1	2	3	4	1	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.973A>T	p.Thr325Ser	p.T325S	ENST00000397801	6/28	311	260	51	424	424	0	strelka-varscan-mutect	ROBO3,missense_variant,p.Thr325Ser,ENST00000397801,NM_022370.3;ROBO3,missense_variant,p.Thr303Ser,ENST00000538940,;	T	ENST00000397801	Transcript	missense_variant	1165/4569	973/4161	325/1386	T/S	Acc/Tcc		1		1	ROBO3	HGNC	HGNC:13433	protein_coding	YES	CCDS44755.1	ENSP00000380903	Q96MS0		UPI000035AA82	NM_022370.3	deleterious(0.02)		6/28		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF724,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	124870668	124870668	A	T	1	0	0	0	0	1	0	0	0	13693	159	6	4		4	ROBO3	11	124870668	Missense_Mutation	SNP	A	C3N-01488_TP	893774	124870668	10215954	362	26326											
FLI1	0	.	GRCh38	chr11	128810889	128810889	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctttggagccgcatcAcaatactggacctcccccac	9	9	7	16	1	2	0	1	0	1	0	3	2	3	2	4	2	3	2	4	2	2	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1260A>T	p.=	p.S420S	ENST00000527786	9/9	403	334	69	609	608	1	strelka-varscan-mutect	FLI1,synonymous_variant,p.=,ENST00000281428,NM_001271010.1;FLI1,synonymous_variant,p.=,ENST00000527786,NM_002017.4;FLI1,synonymous_variant,p.=,ENST00000534087,NM_001167681.2;FLI1,synonymous_variant,p.=,ENST00000344954,NM_001271012.1;FLI1,3_prime_UTR_variant,,ENST00000429175,;FLI1,3_prime_UTR_variant,,ENST00000608303,;FLI1,non_coding_transcript_exon_variant,,ENST00000528790,;	T	ENST00000527786	Transcript	synonymous_variant	1749/4127	1260/1359	420/452	S	tcA/tcT		1		1	FLI1	HGNC	HGNC:3749	protein_coding	YES	CCDS44768.1	ENSP00000433488	Q01543	A0A024R3M5	UPI000012A972	NM_002017.4			9/9		hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF161																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	80	128810889	128810889	A	T	1	0	0	0	0	0	0	0	1	5786	146	6	4		4	FLI1	11	128810889	Silent	SNP	A	C3N-01488_TP	3940221	128810889	6275733	363	26327											
PRDM10	0	.	GRCh38	chr11	129914986	129914986	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagctgggcgaactctggAtgcttctttcgaatgtgctg	7	12	14	8	2	2	1	0	0	2	1	3	5	2	2	0	2	4	3	0	2	2	2	rs763285097		C3N-01488_TP	C3N-01488_NB	A	A																c.2571T>A	p.His857Gln	p.H857Q	ENST00000358825	18/22	120	99	21	203	202	1	strelka-varscan-mutect	PRDM10,missense_variant,p.His857Gln,ENST00000358825,NM_020228.2;PRDM10,missense_variant,p.His853Gln,ENST00000360871,NM_199437.1;PRDM10,missense_variant,p.His827Gln,ENST00000528746,;PRDM10,missense_variant,p.His771Gln,ENST00000423662,NM_199438.1;PRDM10,missense_variant,p.His767Gln,ENST00000304538,NM_199439.1;PRDM10,missense_variant,p.His771Gln,ENST00000526082,;PRDM10,missense_variant,p.His570Gln,ENST00000533431,;	T	ENST00000358825	Transcript	missense_variant	2803/6322	2571/3483	857/1160	H/Q	caT/caA	rs763285097	1		-1	PRDM10	HGNC	HGNC:13995	protein_coding	YES	CCDS44771.1	ENSP00000351686	Q9NQV6		UPI00002371B3	NM_020228.2	deleterious(0)		18/22		PROSITE_profiles:PS50157,hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF30,PROSITE_patterns:PS00028,SMART_domains:SM00355																	MODERATE	1	SNV	1			1										PASS		rs763285097	.												T	3	4	80	129914986	129914986	A	T	1	0	0	0	0	1	0	0	0	12582	330	12	4		4	PRDM10	11	129914986	Missense_Mutation	SNP	A	C3N-01488_TP	1104097	129914986	5171636	364	26328											
IGSF9B	0	.	GRCh38	chr11	133921066	133921066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtccgactggcggaactcggGgtacatgtccgtctcctcgg	5	9	14	13	5	1	0	0	0	1	0	6	2	3	1	3	5	2	1	3	5	2	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.2659C>T	p.Pro887Ser	p.P887S	ENST00000533871	18/20	186	163	23	237	237	0	strelka-varscan-mutect	IGSF9B,missense_variant,p.Pro887Ser,ENST00000533871,NM_001277285.1;IGSF9B,missense_variant,p.Pro887Ser,ENST00000321016,;IGSF9B,downstream_gene_variant,,ENST00000527648,;	A	ENST00000533871	Transcript	missense_variant	2890/5050	2659/4314	887/1437	P/S	Ccc/Tcc		1		-1	IGSF9B	HGNC	HGNC:32326	protein_coding	YES	CCDS61010.1	ENSP00000436552	Q9UPX0		UPI0002C439DB	NM_001277285.1	deleterious(0.01)		18/20		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF681																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	80	133921066	133921066	G	A	1	0	0	0	0	1	0	0	0	7514	1232	43	3		3	IGSF9B	11	133921066	Missense_Mutation	SNP	G	C3N-01488_TP	4006080	133921066	1165556	365	26329											
IQSEC3	0	.	GRCh38	chr12	161965	161965	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catccccagggagctggtggTaggcatctatgagaggatac	10	8	14	9	0	1	1	0	1	1	1	2	4	2	3	2	5	2	3	2	5	3	3	rs782198288		C3N-01488_TP	C3N-01488_NB	T	T																c.2483T>A	p.Val828Glu	p.V828E	ENST00000538872	8/14	322	231	91	275	275	0	strelka-varscan-mutect	IQSEC3,missense_variant,p.Val828Glu,ENST00000538872,NM_001170738.1;IQSEC3,missense_variant,p.Val525Glu,ENST00000382841,NM_015232.1;RP11-598F7.6,downstream_gene_variant,,ENST00000537295,;RP11-598F7.5,downstream_gene_variant,,ENST00000540136,;	A	ENST00000538872	Transcript	missense_variant	2601/7094	2483/3549	828/1182	V/E	gTa/gAa	rs782198288	1		1	IQSEC3	HGNC	HGNC:29193	protein_coding	YES	CCDS53728.1	ENSP00000437554	Q9UPP2		UPI0000DBEEF0	NM_001170738.1	deleterious(0)		8/14		PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF62,Pfam_domain:PF01369,Gene3D:1.10.1000.11,SMART_domains:SM00222,Superfamily_domains:SSF48425																	MODERATE		SNV	5			1										PASS		rs782198288	.												A	3	1	80	161965	161965	T	A	1	0	0	0	0	1	0	0	0	7725	1638	57	4		4	IQSEC3	12	161965	Missense_Mutation	SNP	T	C3N-01488_TP		161965	133113344	366	26330											
DYRK4	0	.	GRCh38	chr12	4599167	4599167	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcactgtgatctcaagcccGtgagtaccatctccgtcctg	7	12	8	14	2	3	2	2	2	2	0	6	2	4	2	4	0	2	1	4	0	2	2	rs185807035		C3N-01488_TP	C3N-01488_NB	G	G																c.699+1G>T		p.X233_splice	ENST00000540757		142	105	37	159	159	0	strelka-varscan-mutect	DYRK4,splice_donor_variant,,ENST00000540757,NM_003845.2;DYRK4,splice_donor_variant,,ENST00000543431,;DYRK4,splice_donor_variant,,ENST00000010132,;DYRK4,downstream_gene_variant,,ENST00000536157,;DYRK4,upstream_gene_variant,,ENST00000540644,;RP11-234B24.5,downstream_gene_variant,,ENST00000538921,;	T	ENST00000540757	Transcript	splice_donor_variant	-/3272	699/1563	233/520			rs185807035	1		1	DYRK4	HGNC	HGNC:3095	protein_coding	YES	CCDS8530.1	ENSP00000441755	Q9NR20		UPI000006E05C	NM_003845.2				7/12																		HIGH	1	SNV	1			1										PASS		rs185807035	.												T	5	4	80	4599167	4599167	G	T	1	0	0	0	0	0	0	1	0	4682	1159	40	1		1	DYRK4	12	4599167	Splice_Site	SNP	G	C3N-01488_TP	4437202	4599167	128676142	367	26331											
ATF7IP	0	.	GRCh38	chr12	14424162	14424162	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatttgttttgatcctgaaGgaagtaaagcagaatggaag	15	11	12	3	0	0	4	0	2	0	2	1	6	1	6	1	2	1	3	1	2	6	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.271G>T	p.Gly91Ter	p.G91*	ENST00000544627	2/15	184	144	40	345	344	1	strelka-varscan-mutect	ATF7IP,stop_gained,p.Gly83Ter,ENST00000261168,NM_018179.4;ATF7IP,stop_gained,p.Gly83Ter,ENST00000536444,NM_001286514.1;ATF7IP,stop_gained,p.Gly83Ter,ENST00000543189,NM_001286515.1;ATF7IP,stop_gained,p.Gly91Ter,ENST00000544627,NM_181352.1;ATF7IP,stop_gained,p.Gly83Ter,ENST00000540793,;ATF7IP,stop_gained,p.Gly83Ter,ENST00000396279,;ATF7IP,stop_gained,p.Gly83Ter,ENST00000545723,;ATF7IP,stop_gained,p.Gly83Ter,ENST00000542514,;ATF7IP,stop_gained,p.Gly83Ter,ENST00000539057,;ATF7IP,stop_gained,p.Gly83Ter,ENST00000535132,;ATF7IP,stop_gained,p.Gly83Ter,ENST00000536279,;ATF7IP,stop_gained,p.Gly83Ter,ENST00000541056,;ATF7IP,stop_gained,p.Gly83Ter,ENST00000545769,;ATF7IP,stop_gained,p.Gly83Ter,ENST00000542967,;ATF7IP,stop_gained,p.Gly83Ter,ENST00000428217,;ATF7IP,stop_gained,p.Gly83Ter,ENST00000534828,;ATF7IP,intron_variant,,ENST00000538511,;ATF7IP,downstream_gene_variant,,ENST00000542508,;ATF7IP,downstream_gene_variant,,ENST00000542991,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000541654,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000539659,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000537653,;	T	ENST00000544627	Transcript	stop_gained	591/4847	271/3837	91/1278	G/*	Gga/Tga		1		1	ATF7IP	HGNC	HGNC:20092	protein_coding	YES	CCDS66326.1	ENSP00000440440	Q6VMQ6		UPI0001EE42CD	NM_181352.1			2/15		hmmpanther:PTHR23210,hmmpanther:PTHR23210:SF22																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	80	14424162	14424162	G	T	1	0	0	0	0	0	1	0	0	1236	1001	35	2		2	ATF7IP	12	14424162	Nonsense_Mutation	SNP	G	C3N-01488_TP	9824995	14424162	118851147	368	26332											
KRAS	0	.	GRCh38	chr12	25245350	25245350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		C3N-01488_TP	C3N-01488_NB	C	C																c.35G>A	p.Gly12Asp	p.G12D	ENST00000256078	2/6	258	194	64	440	440	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Asp,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Asp,ENST00000556131,;KRAS,missense_variant,p.Gly12Asp,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Asp,ENST00000557334,;	T	ENST00000256078	Transcript	missense_variant	99/1119	35/570	12/189	G/D	gGt/gAt	rs121913529,CM087372,COSM1135366,COSM1140133,COSM1140134,COSM12657,COSM49168,COSM520,COSM521,COSM522	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,0,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1,1,1	1										PASS		rs121913529	.												T	3	4	80	25245350	25245350	C	T	1	0	0	0	0	1	0	0	0	8318	507	18	3		3	KRAS	12	25245350	Missense_Mutation	SNP	C	C3N-01488_TP	10821188	25245350	108029959	369	26333											
ASUN	0	.	GRCh38	chr12	26928833	26928833	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccactgctgcaacaaggcCatgcagaatactgcagcact	12	8	8	13	0	0	1	0	0	0	1	1	1	1	1	2	1	7	5	2	1	4	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.373G>C	p.Gly125Arg	p.G125R	ENST00000261191	4/17	248	209	39	447	447	0	strelka-varscan-mutect	ASUN,missense_variant,p.Gly125Arg,ENST00000261191,NM_018164.2;ASUN,missense_variant,p.Gly125Arg,ENST00000544548,;ASUN,missense_variant,p.Gly125Arg,ENST00000537336,;ASUN,missense_variant,p.Gly24Arg,ENST00000538727,;ASUN,upstream_gene_variant,,ENST00000536232,;ASUN,non_coding_transcript_exon_variant,,ENST00000538748,;	G	ENST00000261191	Transcript	missense_variant	910/2974	373/2121	125/706	G/R	Ggc/Cgc		1		-1	ASUN	HGNC	HGNC:20174	protein_coding	YES	CCDS8708.1	ENSP00000261191	Q9NVM9		UPI0000044950	NM_018164.2	deleterious(0)		4/17		hmmpanther:PTHR12955,hmmpanther:PTHR12955:SF1,Pfam_domain:PF10221																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	26928833	26928833	C	G	1	0	0	0	0	1	0	0	0	1213	594	21	4		4	ASUN	12	26928833	Missense_Mutation	SNP	C	C3N-01488_TP	1683483	26928833	106346476	370	26334											
OVCH1	0	.	GRCh38	chr12	29451383	29451383	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtctttcttcataaataAttagaactgagtcttgacac	12	16	6	7	0	4	3	1	2	3	1	4	3	4	3	0	0	1	0	0	0	5	6			C3N-01488_TP	C3N-01488_NB	A	A																c.2717T>A	p.Ile906Asn	p.I906N	ENST00000318184	22/28	208	157	51	344	344	0	strelka-varscan-mutect	OVCH1,missense_variant,p.Ile906Asn,ENST00000318184,NM_183378.2;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;OVCH1-AS1,intron_variant,,ENST00000550906,;	T	ENST00000318184	Transcript	missense_variant	2717/3405	2717/3405	906/1134	I/N	aTt/aAt	COSM938569	1		-1	OVCH1	HGNC	HGNC:23080	protein_coding	YES		ENSP00000326708	Q7RTY7		UPI000040640A	NM_183378.2	tolerated(0.16)		22/28		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	80	29451383	29451383	A	T	1	0	0	0	0	1	0	0	0	11393	101	4	4		4	OVCH1	12	29451383	Missense_Mutation	SNP	A	C3N-01488_TP	2522550	29451383	103823926	371	26335											
BICD1	0	.	GRCh38	chr12	32107612	32107612	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcaaggcccactcatcatGatcaagaagtcataaaggag	15	6	9	11	1	4	2	4	1	0	1	4	3	4	3	2	2	0	1	2	2	5	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.281G>A	p.=	p.*94*	ENST00000551848	1/1	218	199	19	264	264	0	strelka-varscan-mutect	BICD1,stop_retained_variant,p.=,ENST00000551848,;BICD1,intron_variant,,ENST00000548411,NM_001003398.1;BICD1,intron_variant,,ENST00000281474,NM_001714.2;BICD1,intron_variant,,ENST00000550207,;BICD1,intron_variant,,ENST00000551086,;RP11-843B15.4,upstream_gene_variant,,ENST00000619744,;RP11-843B15.2,upstream_gene_variant,,ENST00000551974,;BICD1,intron_variant,,ENST00000395758,;	A	ENST00000551848	Transcript	stop_retained_variant	778/1962	281/282	94/93	*	tGa/tAa		1		1	BICD1	HGNC	HGNC:1049	protein_coding			ENSP00000448933	Q96G01		UPI0000073646				1/1																			LOW		SNV				1										PASS		rs1412114406	.												A	2	1	80	32107612	32107612	G	A	1	0	0	0	0	0	0	0	1	1577	1285	45	3		3	BICD1	12	32107612	Silent	SNP	G	C3N-01488_TP	2656229	32107612	101167697	372	26336											
PPHLN1	0	.	GRCh38	chr12	42374861	42374861	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgtttttttttttttcaaAgggacatgagagatggcttt	9	20	9	3	0	1	2	1	1	0	1	1	4	1	3	0	2	0	2	0	2	2	8	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.300-2A>T		p.X100_splice	ENST00000395568		54	49	5	125	125	0	strelka-varscan-mutect	PPHLN1,splice_acceptor_variant,,ENST00000432191,NM_001143787.1;PPHLN1,splice_acceptor_variant,,ENST00000395568,NM_016488.6;PPHLN1,splice_acceptor_variant,,ENST00000613154,;PPHLN1,splice_acceptor_variant,,ENST00000256678,;PPHLN1,splice_acceptor_variant,,ENST00000549190,;PPHLN1,splice_acceptor_variant,,ENST00000395580,NM_201515.1;PPHLN1,splice_acceptor_variant,,ENST00000358314,NM_201439.1;PPHLN1,splice_acceptor_variant,,ENST00000449194,NM_001143789.1,NM_001143788.1;PPHLN1,splice_acceptor_variant,,ENST00000610488,;PPHLN1,splice_acceptor_variant,,ENST00000337898,;PPHLN1,splice_acceptor_variant,,ENST00000619544,;PPHLN1,splice_acceptor_variant,,ENST00000317560,;PPHLN1,splice_acceptor_variant,,ENST00000552761,NM_201440.1,NM_201438.1;PPHLN1,splice_acceptor_variant,,ENST00000546750,;PPHLN1,splice_acceptor_variant,,ENST00000547847,;PPHLN1,intron_variant,,ENST00000552794,;PPHLN1,splice_acceptor_variant,,ENST00000552202,;PPHLN1,splice_acceptor_variant,,ENST00000551406,;PPHLN1,splice_acceptor_variant,,ENST00000552429,;PPHLN1,intron_variant,,ENST00000551723,;	T	ENST00000395568	Transcript	splice_acceptor_variant	-/2170	300/1377	100/458				1		1	PPHLN1	HGNC	HGNC:19369	protein_coding	YES	CCDS31777.1	ENSP00000378935	Q8NEY8		UPI0000351A1E	NM_016488.6				4/12																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	80	42374861	42374861	A	T	1	0	0	0	0	0	0	1	0	12424	86	3	4		4	PPHLN1	12	42374861	Splice_Site	SNP	A	C3N-01488_TP	10267249	42374861	90900448	373	26337											
ADAMTS20	0	.	GRCh38	chr12	43431355	43431355	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccatggtcctacttgccAggaagcacatgtatgaagtt	11	10	9	11	0	0	1	0	1	0	0	1	2	1	2	4	2	3	3	4	2	4	4	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.3238T>A	p.Trp1080Arg	p.W1080R	ENST00000389420	22/39	199	178	21	289	289	0	strelka-varscan-mutect	ADAMTS20,missense_variant,p.Trp1080Arg,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Trp1080Arg,ENST00000395541,;ADAMTS20,missense_variant,p.Trp1080Arg,ENST00000553158,;ADAMTS20,missense_variant,p.Trp246Arg,ENST00000549670,;	T	ENST00000389420	Transcript	missense_variant	3238/6076	3238/5733	1080/1910	W/R	Tgg/Agg		1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3	deleterious(0)		22/39		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	43431355	43431355	A	T	1	0	0	0	0	1	0	0	0	310	188	7	4		4	ADAMTS20	12	43431355	Missense_Mutation	SNP	A	C3N-01488_TP	1056494	43431355	89843954	374	26338											
PUS7L	0	.	GRCh38	chr12	43730396	43730396	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaaacgtcatgcttcattaTttccttcagacaaacggtag	12	14	6	9	2	3	1	3	0	0	1	4	1	4	1	1	1	3	2	1	1	5	6	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.2086A>T	p.Ile696Leu	p.I696L	ENST00000344862	9/9	89	77	12	188	188	0	strelka-varscan-mutect	PUS7L,missense_variant,p.Ile696Leu,ENST00000344862,NM_031292.4;PUS7L,missense_variant,p.Ile696Leu,ENST00000416848,NM_001098615.1;PUS7L,missense_variant,p.Ile696Leu,ENST00000551923,NM_001098614.2;PUS7L,missense_variant,p.Ile383Leu,ENST00000431332,NM_001271826.1;	A	ENST00000344862	Transcript	missense_variant	2190/13593	2086/2106	696/701	I/L	Ata/Tta		1		-1	PUS7L	HGNC	HGNC:25276	protein_coding	YES	CCDS8743.1	ENSP00000343081	Q9H0K6		UPI0000037C53	NM_031292.4	deleterious(0.01)		9/9		Pfam_domain:PF01142,PIRSF_domain:PIRSF037016,hmmpanther:PTHR13326,hmmpanther:PTHR13326:SF5,Superfamily_domains:SSF55120,TIGRFAM_domain:TIGR00094																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	43730396	43730396	T	A	1	0	0	0	0	1	0	0	0	12992	1493	52	4		4	PUS7L	12	43730396	Missense_Mutation	SNP	T	C3N-01488_TP	299041	43730396	89544913	375	26339											
PUS7L	0	.	GRCh38	chr12	43746074	43746074	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctattgcttccataattCtctccctcaggtttgcagaa	8	17	5	11	0	3	1	1	0	2	1	6	1	5	1	2	1	2	3	2	1	3	7	rs777009297		C3N-01488_TP	C3N-01488_NB	C	C																c.1235G>C	p.Arg412Thr	p.R412T	ENST00000344862	4/9	176	137	39	317	317	0	strelka-varscan-mutect	PUS7L,missense_variant,p.Arg412Thr,ENST00000344862,NM_031292.4;PUS7L,missense_variant,p.Arg412Thr,ENST00000416848,NM_001098615.1;PUS7L,missense_variant,p.Arg412Thr,ENST00000551923,NM_001098614.2;PUS7L,missense_variant,p.Arg99Thr,ENST00000431332,NM_001271826.1;PUS7L,missense_variant,p.Arg99Thr,ENST00000550784,;PUS7L,missense_variant,p.Arg99Thr,ENST00000547156,;PUS7L,downstream_gene_variant,,ENST00000553166,;	G	ENST00000344862	Transcript	missense_variant	1339/13593	1235/2106	412/701	R/T	aGa/aCa	rs777009297,COSM284402	1		-1	PUS7L	HGNC	HGNC:25276	protein_coding	YES	CCDS8743.1	ENSP00000343081	Q9H0K6		UPI0000037C53	NM_031292.4	tolerated(0.08)		4/9		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01142,PIRSF_domain:PIRSF037016,hmmpanther:PTHR13326,hmmpanther:PTHR13326:SF5,Superfamily_domains:SSF55120,TIGRFAM_domain:TIGR00094											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs777009297	.												G	3	3	80	43746074	43746074	C	G	1	0	0	0	0	1	0	0	0	12992	913	32	4		4	PUS7L	12	43746074	Missense_Mutation	SNP	C	C3N-01488_TP	15678	43746074	89529235	376	26340											
IRAK4	0	.	GRCh38	chr12	43768212	43768212	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcaagaaggatggaagaAgttagctgtagctattaaaa	16	10	10	5	0	1	2	1	0	0	2	2	4	2	4	1	2	2	4	1	2	9	4	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.101A>T	p.Lys34Met	p.K34M	ENST00000613694	2/12	141	121	20	221	221	0	strelka-varscan-mutect	IRAK4,missense_variant,p.Lys34Met,ENST00000613694,NM_016123.3;IRAK4,missense_variant,p.Lys34Met,ENST00000551736,NM_001114182.2;IRAK4,missense_variant,p.Lys34Met,ENST00000448290,;IRAK4,missense_variant,p.Lys34Met,ENST00000550616,;IRAK4,5_prime_UTR_variant,,ENST00000431837,NM_001145257.1,NM_001145256.1;IRAK4,intron_variant,,ENST00000440781,NM_001145258.1;IRAK4,missense_variant,p.Lys34Met,ENST00000547521,;IRAK4,missense_variant,p.Lys34Met,ENST00000550386,;IRAK4,missense_variant,p.Lys34Met,ENST00000547101,;IRAK4,missense_variant,p.Lys34Met,ENST00000550615,;IRAK4,missense_variant,p.Lys34Met,ENST00000552309,;IRAK4,missense_variant,p.Lys34Met,ENST00000550361,;IRAK4,non_coding_transcript_exon_variant,,ENST00000546780,;	T	ENST00000613694	Transcript	missense_variant	172/4280	101/1383	34/460	K/M	aAg/aTg		1		1	IRAK4	HGNC	HGNC:17967	protein_coding	YES	CCDS8744.1	ENSP00000479889	Q9NWZ3	Q69FE3	UPI000004ABE6	NM_016123.3	deleterious(0.02)		2/12		hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF22,PIRSF_domain:PIRSF038189,Gene3D:1.10.533.10,Superfamily_domains:SSF47986																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	43768212	43768212	A	T	1	0	0	0	0	1	0	0	0	7731	72	3	4		4	IRAK4	12	43768212	Missense_Mutation	SNP	A	C3N-01488_TP	22138	43768212	89507097	377	26341											
KMT2D	0	.	GRCh38	chr12	49040924	49040924	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttcacctctagggccttCcgggactccccaaaaggtgg	7	10	10	14	1	3	0	1	0	2	0	5	1	5	1	5	4	0	0	5	4	3	4	rs371474793		C3N-01488_TP	C3N-01488_NB	C	C																c.6846G>T	p.=	p.R2282R	ENST00000301067	31/54	119	93	26	191	191	0	strelka-varscan-mutect	KMT2D,synonymous_variant,p.=,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,;	A	ENST00000301067	Transcript	synonymous_variant	6846/19419	6846/16614	2282/5537	R	cgG/cgT	rs371474793	1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3			31/54																			LOW	1	SNV	5			1										PASS		rs371474793	.												A	2	1	80	49040924	49040924	C	A	1	0	0	0	0	0	0	0	1	8298	842	30	2		2	KMT2D	12	49040924	Silent	SNP	C	C3N-01488_TP	5272712	49040924	84234385	378	26342											
SCN8A	0	.	GRCh38	chr12	51765743	51765743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agattattggaaattcagtgGgtgccctgggcaacctgaca	11	10	12	8	0	1	2	1	1	0	1	1	3	1	3	2	3	2	1	2	3	3	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.2617G>T	p.Gly873Cys	p.G873C	ENST00000354534	16/27	82	68	14	164	164	0	strelka-varscan-mutect	SCN8A,missense_variant,p.Gly873Cys,ENST00000354534,NM_014191.3;SCN8A,missense_variant,p.Gly873Cys,ENST00000545061,NM_001177984.2;SCN8A,missense_variant,p.Gly884Cys,ENST00000599343,;SCN8A,missense_variant,p.Gly873Cys,ENST00000627620,;SCN8A,missense_variant,p.Gly873Cys,ENST00000355133,;SCN8A,upstream_gene_variant,,ENST00000636458,;SCN8A,missense_variant,p.Gly208Cys,ENST00000636945,;SCN8A,3_prime_UTR_variant,,ENST00000637709,;SCN8A,non_coding_transcript_exon_variant,,ENST00000550891,;SCN8A,upstream_gene_variant,,ENST00000627665,;	T	ENST00000354534	Transcript	missense_variant	2795/11556	2617/5943	873/1980	G/C	Ggt/Tgt		1		1	SCN8A	HGNC	HGNC:10596	protein_coding	YES	CCDS44891.1	ENSP00000346534	Q9UQD0		UPI000006FD85	NM_014191.3	deleterious(0.01)		16/27		Transmembrane_helices:TMhelix,hmmpanther:PTHR10037:SF23,hmmpanther:PTHR10037,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	51765743	51765743	G	T	1	0	0	0	0	1	0	0	0	14193	1232	43	2		2	SCN8A	12	51765743	Missense_Mutation	SNP	G	C3N-01488_TP	2724819	51765743	81509566	379	26343											
HOXC10	0	.	GRCh38	chr12	53989195	53989195	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaggcagaaaacaccacaGgaaattggctgacagcaaag	19	4	10	8	0	0	2	0	1	0	1	0	3	0	3	1	3	2	3	1	3	6	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.778G>T	p.Gly260Ter	p.G260*	ENST00000303460	2/2	110	77	33	178	178	0	strelka-varscan-mutect	HOXC10,stop_gained,p.Gly260Ter,ENST00000303460,NM_017409.3;RP11-834C11.12,intron_variant,,ENST00000513209,;HOXC6,upstream_gene_variant,,ENST00000504315,;HOXC10,downstream_gene_variant,,ENST00000515593,;MIR196A2,upstream_gene_variant,,ENST00000385189,;HOXC-AS3,upstream_gene_variant,,ENST00000509870,;HOXC-AS3,upstream_gene_variant,,ENST00000513165,;HOXC-AS3,upstream_gene_variant,,ENST00000514702,;HOXC10,non_coding_transcript_exon_variant,,ENST00000511575,;HOXC10,non_coding_transcript_exon_variant,,ENST00000513413,;HOXC10,non_coding_transcript_exon_variant,,ENST00000514415,;HOXC-AS3,upstream_gene_variant,,ENST00000567780,;HOXC-AS2,downstream_gene_variant,,ENST00000604081,;	T	ENST00000303460	Transcript	stop_gained	852/1936	778/1029	260/342	G/*	Gga/Tga		1		1	HOXC10	HGNC	HGNC:5122	protein_coding	YES	CCDS8868.1	ENSP00000307321	Q9NYD6	Q53XI4	UPI000012CF7C	NM_017409.3			2/2		hmmpanther:PTHR24326:SF135,hmmpanther:PTHR24326,Gene3D:1.10.10.60,Superfamily_domains:SSF46689																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	80	53989195	53989195	G	T	1	0	0	0	0	0	1	0	0	7203	1001	35	2		2	HOXC10	12	53989195	Nonsense_Mutation	SNP	G	C3N-01488_TP	2223452	53989195	79286114	380	26344											
BAZ2A	0	.	GRCh38	chr12	56615129	56615129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataccactgcctacctcCtgggagggtgcaaaggtttg	8	10	13	10	0	0	0	0	0	0	0	1	2	1	2	4	4	4	2	4	4	3	3	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.621G>T	p.Gln207His	p.Q207H	ENST00000551812	3/29	159	134	25	265	264	1	strelka-varscan-mutect	BAZ2A,splice_acceptor_variant,,ENST00000379441,;BAZ2A,missense_variant,p.Gln207His,ENST00000551812,NM_013449.3;BAZ2A,missense_variant,p.Gln205His,ENST00000549884,NM_001300905.1;BAZ2A,upstream_gene_variant,,ENST00000551996,;BAZ2A,downstream_gene_variant,,ENST00000546695,;BAZ2A,upstream_gene_variant,,ENST00000547650,;BAZ2A,downstream_gene_variant,,ENST00000549506,;BAZ2A,upstream_gene_variant,,ENST00000547647,;BAZ2A,downstream_gene_variant,,ENST00000550730,;BAZ2A,downstream_gene_variant,,ENST00000551959,;BAZ2A,upstream_gene_variant,,ENST00000549327,;	A	ENST00000551812	Transcript	missense_variant	815/8600	621/5718	207/1905	Q/H	caG/caT		1		-1	BAZ2A	HGNC	HGNC:962	protein_coding	YES	CCDS44924.1	ENSP00000446880	Q9UIF9		UPI0000D4FED1	NM_013449.3	deleterious(0.01)		3/29		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141																	MODERATE	1	SNV	1			1										PASS		rs1357249498	.												A	3	1	80	56615129	56615129	C	A	1	0	0	0	0	1	0	0	0	1476	680	24	2		2	BAZ2A	12	56615129	Missense_Mutation	SNP	C	C3N-01488_TP	2625934	56615129	76660180	381	26345											
C12orf56	0	.	GRCh38	chr12	64275344	64275344	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaaagtgctgtagcagtaTttgtatactccagaataagc	15	12	8	6	0	0	1	0	0	0	1	1	1	1	1	1	0	4	5	1	0	8	7	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.1463A>G	p.Asn488Ser	p.N488S	ENST00000543942	10/13	94	88	6	87	87	0	strelka-varscan-mutect	C12orf56,missense_variant,p.Asn328Ser,ENST00000333722,NM_001099676.2;C12orf56,missense_variant,p.Asn488Ser,ENST00000543942,NM_001170633.1;C12orf56,non_coding_transcript_exon_variant,,ENST00000536975,;C12orf56,non_coding_transcript_exon_variant,,ENST00000542397,;RPS11P6,intron_variant,,ENST00000535684,;C12orf56,upstream_gene_variant,,ENST00000535515,;C12orf56,non_coding_transcript_exon_variant,,ENST00000541802,;	C	ENST00000543942	Transcript	missense_variant	2090/3242	1463/1869	488/622	N/S	aAt/aGt		1		-1	C12orf56	HGNC	HGNC:26967	protein_coding	YES	CCDS61182.1	ENSP00000446101	Q8IXR9		UPI0001C0B37D	NM_001170633.1	deleterious(0)		10/13		Pfam_domain:PF15087,hmmpanther:PTHR35354																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	80	64275344	64275344	T	C	1	0	0	0	0	1	0	0	0	1816	1493	52	5		5	C12orf56	12	64275344	Missense_Mutation	SNP	T	C3N-01488_TP	7660215	64275344	68999965	382	26346											
SYT1	0	.	GRCh38	chr12	79299406	79299406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accatactcggaattgggtgGcaaaaccctagtgatggctg	11	9	12	9	1	0	1	0	1	0	0	1	2	0	2	2	4	2	2	2	4	5	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.665G>T	p.Gly222Val	p.G222V	ENST00000261205	8/11	297	200	97	362	362	0	strelka-varscan-mutect	SYT1,missense_variant,p.Gly222Val,ENST00000261205,NM_005639.2;SYT1,missense_variant,p.Gly219Val,ENST00000457153,NM_001291901.1;SYT1,missense_variant,p.Gly222Val,ENST00000393240,NM_001135805.1;SYT1,missense_variant,p.Gly222Val,ENST00000552744,NM_001135806.1;SYT1,downstream_gene_variant,,ENST00000446242,;SYT1,downstream_gene_variant,,ENST00000552624,;SYT1,non_coding_transcript_exon_variant,,ENST00000549559,;	T	ENST00000261205	Transcript	missense_variant	1322/4808	665/1269	222/422	G/V	gGc/gTc		1		1	SYT1	HGNC	HGNC:11509	protein_coding	YES	CCDS9017.1	ENSP00000261205	P21579	A0A024RBE9	UPI000013669A	NM_005639.2	deleterious(0.01)		8/11		PROSITE_profiles:PS50004,hmmpanther:PTHR10024:SF239,hmmpanther:PTHR10024,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	79299406	79299406	G	T	1	0	0	0	0	1	0	0	0	15859	1203	42	2		2	SYT1	12	79299406	Missense_Mutation	SNP	G	C3N-01488_TP	15024062	79299406	53975903	383	26347											
OTOGL	0	.	GRCh38	chr12	80318705	80318705	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaggccttttcaaagagaAggtatcatgtaagtataatt	14	13	8	6	0	2	1	2	0	0	1	3	2	3	1	2	2	0	3	2	2	6	7	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.3767A>T	p.Lys1256Met	p.K1256M	ENST00000458043	32/58	42	28	14	44	44	0	strelka-varscan-mutect	OTOGL,missense_variant,p.Lys1256Met,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Lys1256Met,ENST00000547103,;	T	ENST00000458043	Transcript	missense_variant	3773/8083	3767/7035	1256/2344	K/M	aAg/aTg		1		1	OTOGL	HGNC	HGNC:26901	protein_coding	YES		ENSP00000400895		A0A0A0MSS2	UPI0001D089C5	NM_173591.3	deleterious(0)		32/58		Low_complexity_(Seg):seg,Pfam_domain:PF05270,Gene3D:2.80.10.50,Superfamily_domains:0050434																	MODERATE	1	SNV	5			1										PASS		rs1490972201	.												T	3	4	80	80318705	80318705	A	T	1	0	0	0	0	1	0	0	0	11371	72	3	4		4	OTOGL	12	80318705	Missense_Mutation	SNP	A	C3N-01488_TP	1019299	80318705	52956604	384	26348											
DAO	0	.	GRCh38	chr12	108887513	108887513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattctcccaacgctgaaaaCctgggcctgttcctaatctc	9	11	6	15	1	2	1	0	1	2	0	5	1	3	1	4	1	2	2	4	1	4	3	rs762709353		C3N-01488_TP	C3N-01488_NB	C	C																c.258C>T	p.=	p.N86N	ENST00000228476	3/11	412	388	24	448	448	0	strelka-varscan-mutect	DAO,synonymous_variant,p.=,ENST00000228476,NM_001917.4;DAO,synonymous_variant,p.=,ENST00000551281,;DAO,synonymous_variant,p.=,ENST00000547166,;DAO,intron_variant,,ENST00000547768,;DAO,downstream_gene_variant,,ENST00000548052,;DAO,synonymous_variant,p.=,ENST00000549215,;DAO,intron_variant,,ENST00000547122,;	T	ENST00000228476	Transcript	synonymous_variant	462/1756	258/1044	86/347	N	aaC/aaT	rs762709353	1		1	DAO	HGNC	HGNC:2671	protein_coding	YES	CCDS9122.1	ENSP00000228476	P14920	A0A024RBI1	UPI0000130F5F	NM_001917.4			3/11		Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,hmmpanther:PTHR11530,hmmpanther:PTHR11530:SF11,Superfamily_domains:SSF51971																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	80	108887513	108887513	C	T	1	0	0	0	0	0	0	0	1	4032	506	18	3		3	DAO	12	108887513	Silent	SNP	C	C3N-01488_TP	28568808	108887513	24387796	385	26349											
RBM19	0	.	GRCh38	chr12	113959231	113959231	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccaggtcctccccggcTccctcctcctcactctcctg	2	11	5	23	1	2	0	1	0	1	0	9	0	8	0	9	2	0	1	9	2	0	1	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.552A>T	p.=	p.G184G	ENST00000545145	5/25	64	45	19	63	63	0	strelka-varscan-mutect	RBM19,synonymous_variant,p.=,ENST00000545145,NM_001146699.1;RBM19,synonymous_variant,p.=,ENST00000261741,NM_016196.3;RBM19,synonymous_variant,p.=,ENST00000392561,NM_001146698.1;RBM19,intron_variant,,ENST00000546876,;	A	ENST00000545145	Transcript	synonymous_variant	631/4422	552/2883	184/960	G	ggA/ggT		1		-1	RBM19	HGNC	HGNC:29098	protein_coding	YES	CCDS9172.1	ENSP00000442053	Q9Y4C8		UPI000013D1EC	NM_001146699.1			5/25		Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	80	113959231	113959231	T	A	1	0	0	0	0	0	0	0	1	13286	1538	54	4		4	RBM19	12	113959231	Silent	SNP	T	C3N-01488_TP	5071718	113959231	19316078	386	26350											
SRRM4	0	.	GRCh38	chr12	119156719	119156719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagccggagccggagcaGgagccggagccggagccgga	8	0	19	14	6	0	0	0	0	0	0	0	6	0	6	6	6	6	2	6	6	0	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1757G>T	p.Arg586Met	p.R586M	ENST00000267260	13/13	211	179	32	288	286	2	strelka-varscan-mutect	SRRM4,missense_variant,p.Arg586Met,ENST00000267260,NM_194286.3;	T	ENST00000267260	Transcript	missense_variant	2145/8477	1757/1836	586/611	R/M	aGg/aTg		1		1	SRRM4	HGNC	HGNC:29389	protein_coding	YES	CCDS44994.1	ENSP00000267260	A7MD48	V5T9A0	UPI00001FBC3F	NM_194286.3	deleterious_low_confidence(0)		13/13		hmmpanther:PTHR34755,hmmpanther:PTHR34755:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	119156719	119156719	G	T	1	0	0	0	0	1	0	0	0	15532	1000	35	2		2	SRRM4	12	119156719	Missense_Mutation	SNP	G	C3N-01488_TP	5197488	119156719	14118590	387	26351											
MLEC	0	.	GRCh38	chr12	120687345	120687345	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgtggcgctcctgcgaCtgctgctgctgctgctgccg	1	10	14	16	4	0	0	0	0	0	0	1	1	1	0	3	1	7	7	3	1	0	0	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.49C>A	p.Leu17Met	p.L17M	ENST00000228506	1/5	83	64	19	90	90	0	strelka-varscan-mutect	MLEC,missense_variant,p.Leu17Met,ENST00000228506,NM_001303627.1,NM_014730.3;MLEC,missense_variant,p.Leu17Met,ENST00000412616,NM_001303628.1;	A	ENST00000228506	Transcript	missense_variant	477/6626	49/879	17/292	L/M	Ctg/Atg		1		1	MLEC	HGNC	HGNC:28973	protein_coding	YES	CCDS9206.1	ENSP00000228506	Q14165		UPI000013938A	NM_001303627.1,NM_014730.3	tolerated(0.24)		1/5		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs933718506	.												A	3	1	80	120687345	120687345	C	A	1	0	0	0	0	1	0	0	0	9581	564	20	2		2	MLEC	12	120687345	Missense_Mutation	SNP	C	C3N-01488_TP	1530626	120687345	12587964	388	26352											
NCOR2	0	.	GRCh38	chr12	124346636	124346636	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgccgcagctcctcgcgCgggatctcatggatggagcg	5	8	16	12	5	1	0	1	0	1	0	4	3	2	3	2	3	3	2	2	3	0	0	rs759702301		C3N-01488_TP	C3N-01488_NB	C	C																c.4287G>T	p.=	p.P1429P	ENST00000405201	31/47	149	126	23	164	164	0	strelka-mutect	NCOR2,synonymous_variant,p.=,ENST00000405201,NM_006312.5;NCOR2,synonymous_variant,p.=,ENST00000404621,NM_001077261.3;NCOR2,synonymous_variant,p.=,ENST00000429285,NM_001206654.1;NCOR2,synonymous_variant,p.=,ENST00000356219,;NCOR2,synonymous_variant,p.=,ENST00000404121,;NCOR2,synonymous_variant,p.=,ENST00000458234,;NCOR2,upstream_gene_variant,,ENST00000453428,;NCOR2,upstream_gene_variant,,ENST00000440187,;NCOR2,downstream_gene_variant,,ENST00000473999,;	A	ENST00000405201	Transcript	synonymous_variant	4288/8533	4287/7545	1429/2514	P	ccG/ccT	rs759702301	1		-1	NCOR2	HGNC	HGNC:7673	protein_coding	YES	CCDS41858.2	ENSP00000384018		C9JFD3	UPI000013D737	NM_006312.5			31/47		hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF21																	LOW	1	SNV	1			1										PASS		rs759702301	.												A	2	1	80	124346636	124346636	C	A	1	0	0	0	0	0	0	0	1	10255	755	27	1		1	NCOR2	12	124346636	Silent	SNP	C	C3N-01488_TP	3659291	124346636	8928673	389	26353											
RIMBP2	0	.	GRCh38	chr12	130422556	130422556	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgcagaggctgggttcccTaaaatctaaagacaaaacaa	16	7	8	10	0	1	2	0	0	1	2	2	2	2	2	2	2	2	3	2	2	7	3	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.2367A>T	p.Leu789Phe	p.L789F	ENST00000261655	13/19	72	56	16	103	103	0	strelka-varscan-mutect	RIMBP2,missense_variant,p.Leu789Phe,ENST00000261655,NM_015347.4;RP11-117L5.4,upstream_gene_variant,,ENST00000539532,;RP11-117L5.1,upstream_gene_variant,,ENST00000624734,;	A	ENST00000261655	Transcript	missense_variant	2531/6321	2367/3159	789/1052	L/F	ttA/ttT		1		-1	RIMBP2	HGNC	HGNC:30339	protein_coding	YES	CCDS31925.1	ENSP00000261655	O15034		UPI00001C1F42	NM_015347.4	tolerated(0.06)		13/19		hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	130422556	130422556	T	A	1	0	0	0	0	1	0	0	0	13538	1536	53	4		4	RIMBP2	12	130422556	Missense_Mutation	SNP	T	C3N-01488_TP	6075920	130422556	2852753	390	26354											
EP400	0	.	GRCh38	chr12	132077554	132077554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccccgctccagactccaGgcgctcccaacccagcccag	7	3	9	22	3	0	1	0	0	0	1	3	1	3	1	7	2	2	2	7	2	1	0	rs752334163		C3N-01488_TP	C3N-01488_NB	G	G																c.9253G>C	p.Gly3085Arg	p.G3085R	ENST00000389562	52/52	276	237	39	347	346	1	strelka-varscan-mutect	EP400,missense_variant,p.Gly3085Arg,ENST00000389562,;EP400,missense_variant,p.Gly3085Arg,ENST00000389561,NM_015409.4;EP400,missense_variant,p.Gly336Arg,ENST00000330386,;RP13-820C6.2,downstream_gene_variant,,ENST00000542422,;EP400,non_coding_transcript_exon_variant,,ENST00000611739,;EP400,non_coding_transcript_exon_variant,,ENST00000616136,;EP400,non_coding_transcript_exon_variant,,ENST00000611118,;	C	ENST00000389562	Transcript	missense_variant	9288/12836	9253/9372	3085/3123	G/R	Ggc/Cgc	rs752334163	1		1	EP400	HGNC	HGNC:11958	protein_coding	YES	CCDS31929.2	ENSP00000374213	Q96L91		UPI00004566BC		deleterious_low_confidence(0.01)		52/52																			MODERATE	1	SNV	1			1										PASS		rs752334163	.												C	3	2	80	132077554	132077554	G	C	1	0	0	0	0	1	0	0	0	4995	1000	35	4		4	EP400	12	132077554	Missense_Mutation	SNP	G	C3N-01488_TP	1654998	132077554	1197755	391	26355											
CENPJ	0	.	GRCh38	chr13	24906230	24906230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcagatctgttgatccCtttctaagattttcagtaca	9	17	6	9	0	3	3	1	1	2	2	4	3	4	3	1	0	2	3	1	0	2	7	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1808G>C	p.Arg603Thr	p.R603T	ENST00000381884	7/17	63	58	5	107	107	0	strelka-varscan-mutect	CENPJ,missense_variant,p.Arg603Thr,ENST00000616936,;CENPJ,missense_variant,p.Arg603Thr,ENST00000381884,NM_018451.4;CENPJ,missense_variant,p.Arg603Thr,ENST00000545981,;CENPJ,upstream_gene_variant,,ENST00000418179,;	G	ENST00000381884	Transcript	missense_variant	1994/4347	1808/4017	603/1338	R/T	aGg/aCg		1		-1	CENPJ	HGNC	HGNC:17272	protein_coding	YES	CCDS9310.1	ENSP00000371308	Q9HC77		UPI000013DC8A	NM_018451.4	deleterious(0)		7/17		hmmpanther:PTHR10331,hmmpanther:PTHR10331:SF23																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	24906230	24906230	C	G	1	0	0	0	0	1	0	0	0	2942	681	24	4		4	CENPJ	13	24906230	Missense_Mutation	SNP	C	C3N-01488_TP		24906230	89458098	392	26356											
OLFM4	0	.	GRCh38	chr13	53049989	53049989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgtggtcatggtggtGtggtgaacatcagcaaaccg	9	9	16	7	1	2	1	2	1	0	0	2	2	2	2	1	5	4	2	1	5	2	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.751G>C	p.Val251Leu	p.V251L	ENST00000219022	5/5	76	47	29	147	147	0	strelka-varscan-mutect	OLFM4,missense_variant,p.Val251Leu,ENST00000219022,NM_006418.4;	C	ENST00000219022	Transcript	missense_variant	829/2897	751/1533	251/510	V/L	Gtg/Ctg		1		1	OLFM4	HGNC	HGNC:17190	protein_coding	YES	CCDS9440.1	ENSP00000219022	Q6UX06	A0A024QZ95	UPI00000359F0	NM_006418.4	tolerated(1)		5/5		PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF7,SMART_domains:SM00284																	MODERATE	1	SNV	1			1										PASS		rs1373398655	.												C	3	2	80	53049989	53049989	G	C	1	0	0	0	0	1	0	0	0	10930	1377	48	4		4	OLFM4	13	53049989	Missense_Mutation	SNP	G	C3N-01488_TP	28143759	53049989	61314339	393	26357											
KLHL1	0	.	GRCh38	chr13	69796765	69796765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtctgtgtgttgacattgGtggtaagacagtccatgtct	8	15	12	6	0	2	2	0	1	2	1	3	2	3	2	1	2	0	2	1	2	1	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1612C>A	p.Pro538Thr	p.P538T	ENST00000377844	7/11	197	137	60	312	311	1	strelka-varscan-mutect	KLHL1,missense_variant,p.Pro538Thr,ENST00000377844,NM_020866.2;KLHL1,missense_variant,p.Pro477Thr,ENST00000545028,NM_001286725.1;	T	ENST00000377844	Transcript	missense_variant	2372/4115	1612/2247	538/748	P/T	Cca/Aca		1		-1	KLHL1	HGNC	HGNC:6352	protein_coding	YES	CCDS9445.1	ENSP00000367075	Q9NR64		UPI000004B136	NM_020866.2	deleterious(0)		7/11		hmmpanther:PTHR24412:SF75,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1k3iA02,SMART_domains:SM00612,Superfamily_domains:0052715																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	69796765	69796765	G	T	1	0	0	0	0	1	0	0	0	8229	1261	44	2		2	KLHL1	13	69796765	Missense_Mutation	SNP	G	C3N-01488_TP	16746776	69796765	44567563	394	26358											
SLITRK1	0	.	GRCh38	chr13	83880447	83880447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttgcagttcatctttaaaCccgaccctgggatgtggtcg	7	13	11	10	2	2	0	1	0	1	0	3	2	2	1	2	2	2	3	2	2	2	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1061G>T	p.Gly354Val	p.G354V	ENST00000377084	1/1	252	234	18	359	358	1	strelka-varscan-mutect	SLITRK1,missense_variant,p.Gly354Val,ENST00000377084,NM_052910.2,NM_001281503.1;	A	ENST00000377084	Transcript	missense_variant	1947/5189	1061/2091	354/696	G/V	gGt/gTt		1		-1	SLITRK1	HGNC	HGNC:20297	protein_coding	YES	CCDS9464.1	ENSP00000366288	Q96PX8		UPI0000035971	NM_052910.2,NM_001281503.1	deleterious(0)		1/1																			MODERATE	1	SNV				1										PASS		rs1410216234	.												A	3	1	80	83880447	83880447	C	A	1	0	0	0	0	1	0	0	0	15033	507	18	2		2	SLITRK1	13	83880447	Missense_Mutation	SNP	C	C3N-01488_TP	14083682	83880447	30483881	395	26359											
TM9SF2	0	.	GRCh38	chr13	99554451	99554451	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcttcattctgaatagtAtttggtaagctaaggataaa	13	17	7	4	0	3	1	1	1	2	0	3	2	3	2	0	2	1	3	0	2	7	10	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1636A>G	p.Ile546Val	p.I546V	ENST00000376387	14/17	98	86	12	143	143	0	varscan-mutect	TM9SF2,missense_variant,p.Ile546Val,ENST00000376387,NM_004800.2;	G	ENST00000376387	Transcript	missense_variant	1826/3430	1636/1992	546/663	I/V	Att/Gtt		1		1	TM9SF2	HGNC	HGNC:11865	protein_coding	YES	CCDS9493.1	ENSP00000365567	Q99805	A0A024QYR8	UPI000013684D	NM_004800.2	deleterious(0.02)		14/17		hmmpanther:PTHR10766,hmmpanther:PTHR10766:SF36,Pfam_domain:PF02990																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	99554451	99554451	A	G	1	0	0	0	0	1	0	0	0	16422	463	16	5		5	TM9SF2	13	99554451	Missense_Mutation	SNP	A	C3N-01488_TP	15674004	99554451	14809877	396	26360											
BIVM	0	.	GRCh38	chr13	102839607	102839607	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgcatcatagcattccaGagacttaactggcaaagatt	14	11	7	9	0	1	2	1	0	0	2	2	3	2	2	1	1	3	3	1	1	3	5	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1168G>C	p.Gln390His	p.Q390H	ENST00000602836	9/21	173	142	31	256	256	0	strelka-varscan-mutect	BIVM-ERCC5,missense_variant,p.Gln390His,ENST00000602836,NM_001204425.1;BIVM,missense_variant,p.Gln418His,ENST00000257336,NM_017693.3;BIVM,missense_variant,p.Gln196His,ENST00000448849,NM_001159596.1;BIVM,non_coding_transcript_exon_variant,,ENST00000490317,;	C	ENST00000602836	Transcript	missense_variant	1168/4155	1170/4157	390/1385	Q/H	caG/caC		1		1	BIVM-ERCC5	HGNC	HGNC:43690	protein_coding	YES		ENSP00000473384		R4GMW8	UPI0002B83330	NM_001204425.1	deleterious_low_confidence(0)		9/21		hmmpanther:PTHR16171:SF5,hmmpanther:PTHR16171																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	80	102839607	102839607	G	C	1	0	0	0	0	1	0	0	0	1592	933	33	4		4	BIVM	13	102839607	Missense_Mutation	SNP	G	C3N-01488_TP	3285156	102839607	11524721	397	26361											
SLC10A2	0	.	GRCh38	chr13	103066154	103066154	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcaccgtacttaggacCacacttaggatgttattgaa	12	11	9	9	1	1	1	1	1	0	0	1	3	1	3	2	2	2	3	2	2	5	5	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.96G>T	p.=	p.V32V	ENST00000245312	1/6	178	124	54	229	228	1	strelka-varscan-mutect	SLC10A2,synonymous_variant,p.=,ENST00000245312,NM_000452.2;	A	ENST00000245312	Transcript	synonymous_variant	693/3779	96/1047	32/348	V	gtG/gtT		1		-1	SLC10A2	HGNC	HGNC:10906	protein_coding	YES	CCDS9506.1	ENSP00000245312	Q12908		UPI000013CB9B	NM_000452.2			1/6		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF19,TIGRFAM_domain:TIGR00841																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	80	103066154	103066154	C	A	1	0	0	0	0	0	0	0	1	14639	581	21	2		2	SLC10A2	13	103066154	Silent	SNP	C	C3N-01488_TP	226547	103066154	11298174	398	26362											
NDRG2	0	.	GRCh38	chr14	21022182	21022182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctggaagcaagatttaTctaaagagaacccacatcac	15	8	9	9	0	2	2	1	0	1	2	2	4	2	3	1	2	2	2	1	2	6	3	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.224A>G	p.Tyr75Cys	p.Y75C	ENST00000556147	5/16	159	132	27	248	248	0	strelka-varscan-mutect	NDRG2,missense_variant,p.Tyr75Cys,ENST00000556147,NM_001320329.1;NDRG2,missense_variant,p.Tyr61Cys,ENST00000555158,NM_001282214.1;NDRG2,missense_variant,p.Tyr61Cys,ENST00000553503,NM_001282213.1;NDRG2,missense_variant,p.Tyr61Cys,ENST00000350792,NM_016250.2;NDRG2,missense_variant,p.Tyr75Cys,ENST00000298687,NM_201535.1;NDRG2,missense_variant,p.Tyr61Cys,ENST00000397844,NM_001282212.1;NDRG2,missense_variant,p.Tyr75Cys,ENST00000397847,NM_001282215.1;NDRG2,missense_variant,p.Tyr75Cys,ENST00000397853,NM_201540.1;NDRG2,missense_variant,p.Tyr75Cys,ENST00000397858,NM_201537.1;NDRG2,missense_variant,p.Tyr61Cys,ENST00000360463,NM_201536.1;NDRG2,missense_variant,p.Tyr75Cys,ENST00000397851,NM_201539.1;NDRG2,missense_variant,p.Tyr61Cys,ENST00000554143,NM_201541.1,NM_201538.1;NDRG2,missense_variant,p.Tyr61Cys,ENST00000298684,;NDRG2,missense_variant,p.Tyr71Cys,ENST00000403829,NM_001282211.1;NDRG2,missense_variant,p.Tyr60Cys,ENST00000397856,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000555026,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000556008,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000556974,;NDRG2,missense_variant,p.Tyr75Cys,ENST00000553784,;NDRG2,missense_variant,p.Tyr75Cys,ENST00000555733,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000555869,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000557169,;NDRG2,missense_variant,p.Tyr75Cys,ENST00000553867,;NDRG2,missense_variant,p.Tyr75Cys,ENST00000555384,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000556420,;NDRG2,missense_variant,p.Tyr64Cys,ENST00000554531,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000553442,;NDRG2,missense_variant,p.Tyr75Cys,ENST00000556457,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000557676,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000554561,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000555142,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000556329,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000556924,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000554094,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000557264,;NDRG2,missense_variant,p.Tyr75Cys,ENST00000554472,;NDRG2,missense_variant,p.Tyr75Cys,ENST00000554419,;NDRG2,missense_variant,p.Tyr75Cys,ENST00000556688,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000557149,;NDRG2,missense_variant,p.Tyr75Cys,ENST00000556561,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000554893,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000555657,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000554489,;NDRG2,missense_variant,p.Tyr75Cys,ENST00000554833,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000557274,;NDRG2,missense_variant,p.Tyr75Cys,ENST00000554398,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000554483,;NDRG2,missense_variant,p.Tyr75Cys,ENST00000554415,;NDRG2,missense_variant,p.Tyr36Cys,ENST00000449431,;NDRG2,missense_variant,p.Tyr18Cys,ENST00000557633,;NDRG2,splice_region_variant,,ENST00000554104,NM_001282216.1;NDRG2,coding_sequence_variant,p.=,ENST00000635386,;NDRG2,5_prime_UTR_variant,,ENST00000556366,;NDRG2,intron_variant,,ENST00000557182,;NDRG2,intron_variant,,ENST00000553563,;NDRG2,upstream_gene_variant,,ENST00000553593,;AL161668.5,upstream_gene_variant,,ENST00000533984,;AL161668.5,upstream_gene_variant,,ENST00000532213,;NDRG2,downstream_gene_variant,,ENST00000622747,;NDRG2,upstream_gene_variant,,ENST00000554277,;NDRG2,missense_variant,p.Tyr75Cys,ENST00000555695,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000557616,;NDRG2,missense_variant,p.Ile26Val,ENST00000555767,;NDRG2,missense_variant,p.Tyr61Cys,ENST00000554379,;NDRG2,splice_region_variant,,ENST00000553741,;NDRG2,splice_region_variant,,ENST00000557669,;NDRG2,splice_region_variant,,ENST00000557198,;NDRG2,splice_region_variant,,ENST00000553900,;NDRG2,splice_region_variant,,ENST00000557113,;NDRG2,splice_region_variant,,ENST00000557318,;NDRG2,non_coding_transcript_exon_variant,,ENST00000553862,;NDRG2,non_coding_transcript_exon_variant,,ENST00000557728,;NDRG2,intron_variant,,ENST00000557353,;NDRG2,upstream_gene_variant,,ENST00000556716,;NDRG2,upstream_gene_variant,,ENST00000555650,;TPPP2,upstream_gene_variant,,ENST00000533755,;NDRG2,upstream_gene_variant,,ENST00000553793,;NDRG2,upstream_gene_variant,,ENST00000557305,;NDRG2,upstream_gene_variant,,ENST00000366204,;NDRG2,downstream_gene_variant,,ENST00000557167,;NDRG2,upstream_gene_variant,,ENST00000557416,;NDRG2,upstream_gene_variant,,ENST00000553567,;	C	ENST00000556147	Transcript	missense_variant,splice_region_variant	1165/2880	224/1116	75/371	Y/C	tAt/tGt		1		-1	NDRG2	HGNC	HGNC:14460	protein_coding	YES	CCDS9565.1	ENSP00000451712	Q9UN36		UPI000012FEDE	NM_001320329.1	deleterious(0.03)		5/16		Gene3D:3.40.50.1820,Pfam_domain:PF03096,hmmpanther:PTHR11034,hmmpanther:PTHR11034:SF17,Superfamily_domains:SSF53474																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	80	21022182	21022182	T	C	1	0	0	0	0	1	0	0	0	10273	1449	50	5		5	NDRG2	14	21022182	Missense_Mutation	SNP	T	C3N-01488_TP		21022182	86021536	399	26363											
CLEC14A	0	.	GRCh38	chr14	38255266	38255266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctctgcgcatttgccagCacggaggtacctcccggggc	6	7	14	14	3	1	0	0	0	1	0	2	2	2	1	3	4	5	4	3	4	1	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.757G>A	p.Ala253Thr	p.A253T	ENST00000342213	1/1	185	140	45	306	306	0	strelka-varscan-mutect	CLEC14A,missense_variant,p.Ala253Thr,ENST00000342213,NM_175060.2;	T	ENST00000342213	Transcript	missense_variant	1104/2267	757/1473	253/490	A/T	Gct/Act		1		-1	CLEC14A	HGNC	HGNC:19832	protein_coding	YES	CCDS9667.1	ENSP00000353013	Q86T13		UPI000000CBD4	NM_175060.2	tolerated(0.4)		1/1		hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF285																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	80	38255266	38255266	C	T	1	0	0	0	0	1	0	0	0	3265	710	25	3		3	CLEC14A	14	38255266	Missense_Mutation	SNP	C	C3N-01488_TP	17233084	38255266	68788452	400	26364											
SOS2	0	.	GRCh38	chr14	50199747	50199747	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatatttcataatgccggaTattaaaaacataattaccag	18	12	5	6	1	1	1	1	0	0	1	1	2	1	2	2	1	3	0	2	1	8	7	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.454A>T	p.Ile152Phe	p.I152F	ENST00000216373	4/23	104	97	7	196	196	0	strelka-varscan-mutect	SOS2,missense_variant,p.Ile152Phe,ENST00000216373,NM_006939.2;SOS2,missense_variant,p.Ile152Phe,ENST00000543680,;SOS2,non_coding_transcript_exon_variant,,ENST00000555666,;SOS2,non_coding_transcript_exon_variant,,ENST00000556469,;SOS2,downstream_gene_variant,,ENST00000556452,;	A	ENST00000216373	Transcript	missense_variant	729/5498	454/3999	152/1332	I/F	Atc/Ttc		1		-1	SOS2	HGNC	HGNC:11188	protein_coding	YES	CCDS9697.1	ENSP00000216373	Q07890		UPI000013C6E8	NM_006939.2	deleterious(0)		4/23		hmmpanther:PTHR23113:SF150,hmmpanther:PTHR23113,Pfam_domain:PF00125,Gene3D:1.10.20.10,Superfamily_domains:SSF47113																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	50199747	50199747	T	A	1	0	0	0	0	1	0	0	0	15259	1406	49	4		4	SOS2	14	50199747	Missense_Mutation	SNP	T	C3N-01488_TP	11944481	50199747	56843971	401	26365											
TXNDC16	0	.	GRCh38	chr14	52511392	52511392	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atattccacatcctcagagcTacaaattaaaaattaattaa	19	12	2	8	0	1	1	1	0	0	1	3	1	3	1	2	0	2	1	2	0	8	6	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.606-2A>T		p.X202_splice	ENST00000281741		45	39	6	68	68	0	strelka-varscan-mutect	TXNDC16,splice_acceptor_variant,,ENST00000281741,NM_001160047.1,NM_020784.2;TXNDC16,intron_variant,,ENST00000557374,;TXNDC16,intron_variant,,ENST00000554399,;	A	ENST00000281741	Transcript	splice_acceptor_variant	-/4564	606/2478	202/825				1		-1	TXNDC16	HGNC	HGNC:19965	protein_coding	YES	CCDS32083.1	ENSP00000281741	Q9P2K2		UPI000059D245	NM_001160047.1,NM_020784.2				8/20																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	80	52511392	52511392	T	A	1	0	0	0	0	0	0	1	0	17311	1536	53	4		4	TXNDC16	14	52511392	Splice_Site	SNP	T	C3N-01488_TP	2311645	52511392	54532326	402	26366											
RTN1	0	.	GRCh38	chr14	59727044	59727044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccgtggcaacatgggcGtctcaggctccagggctccg	5	8	14	14	3	1	0	1	0	1	0	5	0	4	0	3	4	1	4	3	4	1	1	rs776096398		C3N-01488_TP	C3N-01488_NB	G	G																c.1640C>A	p.Thr547Lys	p.T547K	ENST00000267484	3/9	323	268	55	344	344	0	strelka-varscan-mutect	RTN1,missense_variant,p.Thr547Lys,ENST00000267484,NM_021136.2;RTN1,missense_variant,p.Thr473Lys,ENST00000611068,;RTN1,non_coding_transcript_exon_variant,,ENST00000432103,;	T	ENST00000267484	Transcript	missense_variant	1976/3435	1640/2331	547/776	T/K	aCg/aAg	rs776096398	1		-1	RTN1	HGNC	HGNC:10467	protein_coding	YES	CCDS9740.1	ENSP00000267484	Q16799		UPI00001352DA	NM_021136.2	tolerated(0.87)		3/9		hmmpanther:PTHR10994:SF26,hmmpanther:PTHR10994																	MODERATE	1	SNV	1			1										PASS		rs776096398	.												T	3	4	80	59727044	59727044	G	T	1	0	0	0	0	1	0	0	0	13985	1145	40	1		1	RTN1	14	59727044	Missense_Mutation	SNP	G	C3N-01488_TP	7215652	59727044	47316674	403	26367											
HIF1A	0	.	GRCh38	chr14	61738268	61738268	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcaagaagttgcattaaaAttagaaccaaatccagagtc	19	9	6	7	0	1	3	1	0	0	3	3	3	2	3	2	0	2	2	2	0	8	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1503A>G	p.=	p.K501K	ENST00000539097	10/15	235	218	17	296	296	0	strelka-varscan-mutect	HIF1A,synonymous_variant,p.=,ENST00000539097,NM_001243084.1;HIF1A,synonymous_variant,p.=,ENST00000394997,;HIF1A,synonymous_variant,p.=,ENST00000337138,NM_001530.3;HIF1A,synonymous_variant,p.=,ENST00000323441,NM_181054.2;HIF1A,synonymous_variant,p.=,ENST00000557538,;HIF1A-AS2,intron_variant,,ENST00000554254,;HIF1A,intron_variant,,ENST00000555014,;RP11-618G20.1,intron_variant,,ENST00000555937,;HIF1A,upstream_gene_variant,,ENST00000547430,;	G	ENST00000539097	Transcript	synonymous_variant	1732/3956	1503/2553	501/850	K	aaA/aaG		1		1	HIF1A	HGNC	HGNC:4910	protein_coding	YES	CCDS58324.1	ENSP00000437955	Q16665		UPI0001982748	NM_001243084.1			10/15		hmmpanther:PTHR23043:SF7,hmmpanther:PTHR23043,Prints_domain:PR01080																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	80	61738268	61738268	A	G	1	0	0	0	0	0	0	0	1	6988	98	4	5		5	HIF1A	14	61738268	Silent	SNP	A	C3N-01488_TP	2011224	61738268	45305450	404	26368											
SLC8A3	0	.	GRCh38	chr14	70168207	70168207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgaccctggcaatcttGtccccaagggaagggttctc	10	9	10	12	0	2	1	0	1	2	0	4	2	3	2	3	3	0	2	3	3	4	2			C3N-01488_TP	C3N-01488_NB	G	G																c.216C>A	p.Asp72Glu	p.D72E	ENST00000381269	2/8	239	192	47	334	334	0	strelka-varscan-mutect	SLC8A3,missense_variant,p.Asp72Glu,ENST00000381269,NM_183002.2;SLC8A3,missense_variant,p.Asp72Glu,ENST00000357887,NM_033262.4;SLC8A3,missense_variant,p.Asp72Glu,ENST00000356921,NM_182932.2;SLC8A3,missense_variant,p.Asp72Glu,ENST00000528359,;SLC8A3,missense_variant,p.Asp72Glu,ENST00000534137,NM_058240.3;SLC8A3,missense_variant,p.Asp72Glu,ENST00000494208,;	T	ENST00000381269	Transcript	missense_variant	970/5268	216/2784	72/927	D/E	gaC/gaA	COSM1158461,COSM216329	1		-1	SLC8A3	HGNC	HGNC:11070	protein_coding	YES	CCDS35498.1	ENSP00000370669	P57103		UPI0000073C9A	NM_183002.2	tolerated(0.11)		2/8		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF7,TIGRFAM_domain:TIGR00845											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs912657750	.												T	3	4	80	70168207	70168207	G	T	1	0	0	0	0	1	0	0	0	14991	1368	48	2		2	SLC8A3	14	70168207	Missense_Mutation	SNP	G	C3N-01488_TP	8429939	70168207	36875511	405	26369											
VSX2	0	.	GRCh38	chr14	74239662	74239662	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcactgggttcggcaTccaggagatcctgggcttga	7	9	15	10	1	0	2	0	1	0	1	3	3	2	2	2	5	1	4	2	5	0	2	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.101T>A	p.Ile34Asn	p.I34N	ENST00000261980	1/5	385	321	64	459	459	0	strelka-varscan-mutect	VSX2,missense_variant,p.Ile34Asn,ENST00000261980,NM_182894.2;	A	ENST00000261980	Transcript	missense_variant	191/2995	101/1086	34/361	I/N	aTc/aAc		1		1	VSX2	HGNC	HGNC:1975	protein_coding	YES	CCDS9827.1	ENSP00000261980	P58304		UPI0000128755	NM_182894.2	deleterious(0)		1/5		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF330																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	74239662	74239662	T	A	1	0	0	0	0	1	0	0	0	17786	1435	50	4		4	VSX2	14	74239662	Missense_Mutation	SNP	T	C3N-01488_TP	4071455	74239662	32804056	406	26370											
VIPAS39	0	.	GRCh38	chr14	77453312	77453312	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacttacttcccacaggttcCccactccagctgactcgctc	7	11	5	18	1	0	1	0	1	0	0	5	1	3	1	4	1	3	3	4	1	2	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.183G>A	p.=	p.G61G	ENST00000553888	3/20	490	398	92	608	607	1	strelka-varscan-mutect	VIPAS39,synonymous_variant,p.=,ENST00000553888,NM_022067.3,NM_001193314.1,NM_001193317.1;VIPAS39,synonymous_variant,p.=,ENST00000343765,;VIPAS39,synonymous_variant,p.=,ENST00000327028,;VIPAS39,synonymous_variant,p.=,ENST00000557658,NM_001193315.1;VIPAS39,synonymous_variant,p.=,ENST00000556412,;VIPAS39,synonymous_variant,p.=,ENST00000448935,NM_001193316.1;AHSA1,upstream_gene_variant,,ENST00000216479,NM_012111.2;AHSA1,upstream_gene_variant,,ENST00000535854,;AHSA1,upstream_gene_variant,,ENST00000555133,;AHSA1,upstream_gene_variant,,ENST00000555517,;VIPAS39,downstream_gene_variant,,ENST00000557466,;VIPAS39,downstream_gene_variant,,ENST00000556909,;VIPAS39,non_coding_transcript_exon_variant,,ENST00000553691,;AHSA1,upstream_gene_variant,,ENST00000556963,;AHSA1,upstream_gene_variant,,ENST00000554156,;	T	ENST00000553888	Transcript	synonymous_variant	694/2934	183/1482	61/493	G	ggG/ggA		1		-1	VIPAS39	HGNC	HGNC:20347	protein_coding	YES	CCDS9862.1	ENSP00000452181	Q9H9C1	Q6IA61	UPI00000735EF	NM_022067.3,NM_001193314.1,NM_001193317.1			3/20		hmmpanther:PTHR13364,hmmpanther:PTHR13364:SF6																	LOW		SNV	2			1										PASS		.	.												T	2	4	80	77453312	77453312	C	T	1	0	0	0	0	0	0	0	1	17715	610	22	3		3	VIPAS39	14	77453312	Silent	SNP	C	C3N-01488_TP	3213650	77453312	29590406	407	26371											
NRXN3	0	.	GRCh38	chr14	78967235	78967235	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactacgtttttgacctcggAaacggtcccaatgtgatcaa	11	11	8	11	3	1	2	1	2	0	0	3	3	2	3	2	2	2	1	2	2	4	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1686A>T	p.=	p.G562G	ENST00000554719	10/17	147	121	26	187	187	0	strelka-varscan-mutect	NRXN3,synonymous_variant,p.=,ENST00000634499,;NRXN3,synonymous_variant,p.=,ENST00000635466,;NRXN3,synonymous_variant,p.=,ENST00000554719,NM_004796.5;NRXN3,synonymous_variant,p.=,ENST00000335750,;NRXN3,non_coding_transcript_exon_variant,,ENST00000634266,;NRXN3,synonymous_variant,p.=,ENST00000554738,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556496,;	T	ENST00000554719	Transcript	synonymous_variant	2177/4156	1686/3186	562/1061	G	ggA/ggT		1		1	NRXN3	HGNC	HGNC:8010	protein_coding	YES	CCDS9870.1	ENSP00000451648	Q9Y4C0		UPI0000167BBA	NM_004796.5			10/17		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF405,SMART_domains:SM00282,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	80	78967235	78967235	A	T	1	0	0	0	0	0	0	0	1	10726	233	9	4		4	NRXN3	14	78967235	Silent	SNP	A	C3N-01488_TP	1513923	78967235	28076483	408	26372											
TSHR	0	.	GRCh38	chr14	81143160	81143160	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagatcattggttttggcCaggagctcaaaaacccccag	12	9	10	10	0	2	1	2	1	0	1	2	3	2	2	3	3	2	2	3	3	2	3	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1102C>A	p.Gln368Lys	p.Q368K	ENST00000541158	11/11	611	505	106	850	847	3	strelka-varscan-mutect	TSHR,missense_variant,p.Gln368Lys,ENST00000541158,;TSHR,missense_variant,p.Gln368Lys,ENST00000298171,NM_000369.2;RP11-114N19.3,intron_variant,,ENST00000557775,;TSHR,non_coding_transcript_exon_variant,,ENST00000636454,;TSHR,missense_variant,p.Gln3Lys,ENST00000637447,;	A	ENST00000541158	Transcript	missense_variant	1424/4566	1102/2295	368/764	Q/K	Cag/Aag		1		1	TSHR	HGNC	HGNC:12373	protein_coding	YES	CCDS9872.1	ENSP00000441235		A0A0A0MTJ0	UPI000013E4A2		tolerated(0.21)		11/11		Prints_domain:PR01145,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF0																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	80	81143160	81143160	C	A	1	0	0	0	0	1	0	0	0	17127	595	21	2		2	TSHR	14	81143160	Missense_Mutation	SNP	C	C3N-01488_TP	2175925	81143160	25900558	409	26373											
SEL1L	0	.	GRCh38	chr14	81499609	81499609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagttttaatagtattacCtttgcctgacttgaattaac	13	17	5	6	0	0	2	0	2	0	0	0	2	0	2	2	0	3	2	2	0	8	9	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.831G>T	p.Lys277Asn	p.K277N	ENST00000336735	7/21	127	110	17	206	206	0	strelka-varscan-mutect	SEL1L,missense_variant,p.Lys277Asn,ENST00000336735,NM_005065.5;SEL1L,missense_variant,p.Lys277Asn,ENST00000555824,NM_001244984.1;SEL1L,downstream_gene_variant,,ENST00000557372,;SEL1L,splice_region_variant,,ENST00000554744,;	A	ENST00000336735	Transcript	missense_variant,splice_region_variant	948/7925	831/2385	277/794	K/N	aaG/aaT		1		-1	SEL1L	HGNC	HGNC:10717	protein_coding	YES	CCDS9876.1	ENSP00000337053	Q9UBV2		UPI0000135746	NM_005065.5	deleterious(0)		7/21		Gene3D:1.25.40.10,Pfam_domain:PF08238,hmmpanther:PTHR11102,hmmpanther:PTHR11102:SF70,SMART_domains:SM00671,Superfamily_domains:SSF81901																	MODERATE	1	SNV	1			1										PASS		rs1292032705	.												A	3	1	80	81499609	81499609	C	A	1	0	0	0	0	1	0	0	0	14287	695	24	2		2	SEL1L	14	81499609	Missense_Mutation	SNP	C	C3N-01488_TP	356449	81499609	25544109	410	26374											
AHNAK2	0	.	GRCh38	chr14	104954030	104954030	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggtgggccaatctgtgtgCctccttcggttgtgtctctc	2	15	12	12	1	2	0	0	0	2	0	6	0	3	0	3	3	1	1	3	3	1	2	rs770634629		C3N-01488_TP	C3N-01488_NB	C	C																c.1421G>T	p.Gly474Val	p.G474V	ENST00000333244	7/7	110	84	26	198	197	1	strelka-varscan-mutect	AHNAK2,missense_variant,p.Gly474Val,ENST00000333244,NM_138420.2;AHNAK2,upstream_gene_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555544,;	A	ENST00000333244	Transcript	missense_variant	1541/18254	1421/17388	474/5795	G/V	gGc/gTc	rs770634629	1		-1	AHNAK2	HGNC	HGNC:20125	protein_coding	YES	CCDS45177.1	ENSP00000353114	Q8IVF2		UPI00015BB2CA	NM_138420.2	tolerated(0.09)		7/7																			MODERATE	1	SNV	5			1										PASS		rs770634629	.												A	3	1	80	104954030	104954030	C	A	1	0	0	0	0	1	0	0	0	492	739	26	2		2	AHNAK2	14	104954030	Missense_Mutation	SNP	C	C3N-01488_TP	23454421	104954030	2089688	411	26375											
POTEB3	0	.	GRCh38	chr15	21430307	21430307	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atactctctggccgtctgtcCagatagatcttgagaagata	11	12	9	9	1	3	4	0	1	3	4	5	5	4	4	2	1	1	0	2	1	4	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1012G>T	p.Gly338Ter	p.G338*	ENST00000611217	5/11	145	132	13	244	244	0	varscan-mutect	POTEB3,stop_gained,p.Gly338Ter,ENST00000611217,NM_207355.3;U6,upstream_gene_variant,,ENST00000612037,;POTEB3,stop_gained,p.Gly338Ter,ENST00000624267,;POTEB3,stop_gained,p.Gly338Ter,ENST00000612601,;	A	ENST00000611217	Transcript	stop_gained	1060/1813	1012/1746	338/581	G/*	Gga/Tga		1		-1	POTEB3	HGNC	HGNC:51240	protein_coding	YES	CCDS73690.1	ENSP00000483103	A0JP26,Q6S5H4		UPI0000197FCA	NM_207355.3			5/11		PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF38,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	HIGH	1	SNV	1			1										PASS		rs1341991927	.												A	4	1	80	21430307	21430307	C	A	1	0	0	0	0	0	1	0	0	12375	603	21	2		2	POTEB3	15	21430307	Nonsense_Mutation	SNP	C	C3N-01488_TP		21430307	80560882	412	26376											
KLF13	0	.	GRCh38	chr15	31372213	31372213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggaatgctgcagcggcgcGgcgggggctcgcggaccggc	4	3	21	13	8	0	0	0	0	0	0	1	2	0	2	1	7	3	3	1	7	1	0	rs766830250		C3N-01488_TP	C3N-01488_NB	G	G																c.781G>T	p.Gly261Cys	p.G261C	ENST00000307145	2/2	82	64	18	137	137	0	strelka-varscan-mutect	KLF13,missense_variant,p.Gly261Cys,ENST00000307145,NM_015995.3;KLF13,missense_variant,p.Gly73Cys,ENST00000560473,;KLF13,downstream_gene_variant,,ENST00000558844,;KLF13,intron_variant,,ENST00000558921,;KLF13,upstream_gene_variant,,ENST00000558673,;	T	ENST00000307145	Transcript	missense_variant	1139/6825	781/867	261/288	G/C	Ggc/Tgc	rs766830250	1		1	KLF13	HGNC	HGNC:13672	protein_coding	YES	CCDS10025.1	ENSP00000302456	Q9Y2Y9	X5DNR2	UPI000012DEDC	NM_015995.3	deleterious(0.01)		2/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs766830250	.												T	3	4	80	31372213	31372213	G	T	1	0	0	0	0	1	0	0	0	8206	1116	39	1		1	KLF13	15	31372213	Missense_Mutation	SNP	G	C3N-01488_TP	9941906	31372213	70618976	413	26377											
KATNBL1	0	.	GRCh38	chr15	34146770	34146770	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtatactcacccatcatttAtaatttctgttttggatgat	10	18	6	7	0	3	1	2	1	1	0	3	2	3	2	1	2	1	2	1	2	4	8	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.779T>G	p.Ile260Arg	p.I260R	ENST00000256544	8/10	175	144	31	277	277	0	strelka-varscan-mutect	KATNBL1,missense_variant,p.Ile260Arg,ENST00000256544,NM_024713.2;KATNBL1,missense_variant,p.Ile114Arg,ENST00000559760,;KATNBL1,missense_variant,p.Ile33Arg,ENST00000561371,;KATNBL1,intron_variant,,ENST00000561270,;KATNBL1,downstream_gene_variant,,ENST00000560108,;KATNBL1,downstream_gene_variant,,ENST00000557877,;KATNBL1,downstream_gene_variant,,ENST00000560310,;KATNBL1,downstream_gene_variant,,ENST00000559462,;KATNBL1,non_coding_transcript_exon_variant,,ENST00000560247,;KATNBL1,non_coding_transcript_exon_variant,,ENST00000540594,;KATNBL1,downstream_gene_variant,,ENST00000560671,;KATNBL1,upstream_gene_variant,,ENST00000558681,;KATNBL1,downstream_gene_variant,,ENST00000560308,;KATNBL1,downstream_gene_variant,,ENST00000558473,;	C	ENST00000256544	Transcript	missense_variant	922/2723	779/915	260/304	I/R	aTa/aGa		1		-1	KATNBL1	HGNC	HGNC:26199	protein_coding	YES	CCDS10034.1	ENSP00000256544	Q9H079	A0A024R9P5	UPI0000037DAE	NM_024713.2	tolerated(0.4)		8/10		hmmpanther:PTHR14682,Pfam_domain:PF13925																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	80	34146770	34146770	A	C	1	0	0	0	0	1	0	0	0	7905	449	16	5		5	KATNBL1	15	34146770	Missense_Mutation	SNP	A	C3N-01488_TP	2774557	34146770	67844419	414	26378											
FAM98B	0	.	GRCh38	chr15	38470331	38470331	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttatcaggaagttcaagctAtgtttgatacacttggtata	12	16	8	5	0	2	1	2	1	0	0	2	2	2	2	0	2	2	4	0	2	7	9	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.457A>G	p.Met153Val	p.M153V	ENST00000397609	4/8	120	101	19	185	184	1	strelka-varscan-mutect	FAM98B,missense_variant,p.Met153Val,ENST00000397609,NM_173611.3;FAM98B,missense_variant,p.Met153Val,ENST00000491535,;FAM98B,missense_variant,p.Met55Val,ENST00000559431,;FAM98B,non_coding_transcript_exon_variant,,ENST00000305752,;	G	ENST00000397609	Transcript	missense_variant	492/4388	457/1302	153/433	M/V	Atg/Gtg		1		1	FAM98B	HGNC	HGNC:26773	protein_coding	YES	CCDS10047.2	ENSP00000380734	Q52LJ0		UPI0000DA182F	NM_173611.3	tolerated(0.12)		4/8		hmmpanther:PTHR31353,hmmpanther:PTHR31353:SF11,Pfam_domain:PF10239																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	80	38470331	38470331	A	G	1	0	0	0	0	1	0	0	0	5515	449	16	5		5	FAM98B	15	38470331	Missense_Mutation	SNP	A	C3N-01488_TP	4323561	38470331	63520858	415	26379											
CASC5	0	.	GRCh38	chr15	40624779	40624779	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgctgcagcctgtaaaaaAgaactgaaggaaaatattca	17	10	8	6	0	1	2	1	1	0	1	1	3	1	3	1	1	4	3	1	1	8	4	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.4593A>G	p.=	p.K1531K	ENST00000346991	11/27	194	183	11	259	258	1	strelka-varscan-mutect	CASC5,synonymous_variant,p.=,ENST00000346991,NM_170589.4;CASC5,synonymous_variant,p.=,ENST00000399668,NM_144508.4;CASC5,synonymous_variant,p.=,ENST00000527044,;CASC5,upstream_gene_variant,,ENST00000532406,;CASC5,downstream_gene_variant,,ENST00000614337,;CASC5,synonymous_variant,p.=,ENST00000526913,;CASC5,non_coding_transcript_exon_variant,,ENST00000533001,;CASC5,intron_variant,,ENST00000534204,;	G	ENST00000346991	Transcript	synonymous_variant	4983/9573	4593/7029	1531/2342	K	aaA/aaG		1		1	CASC5	HGNC	HGNC:24054	protein_coding	YES	CCDS42023.1	ENSP00000335463	Q8NG31		UPI0000E59BD3	NM_170589.4			11/27		hmmpanther:PTHR16520,hmmpanther:PTHR16520:SF3																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	80	40624779	40624779	A	G	1	0	0	0	0	0	0	0	1	2363	69	3	5		5	CASC5	15	40624779	Silent	SNP	A	C3N-01488_TP	2154448	40624779	61366410	416	26380											
MGA	0	.	GRCh38	chr15	41749539	41749539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctcagaatccagaccagAaagatgaaacaaactcaata	21	6	5	9	0	2	5	2	1	1	4	4	5	3	5	2	0	2	0	2	0	7	1	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.5932A>G	p.Lys1978Glu	p.K1978E	ENST00000219905	17/24	171	162	9	372	372	0	strelka-varscan-mutect	MGA,missense_variant,p.Lys1769Glu,ENST00000566586,;MGA,missense_variant,p.Lys1978Glu,ENST00000219905,NM_001164273.1;MGA,missense_variant,p.Lys1978Glu,ENST00000570161,;MGA,missense_variant,p.Lys1769Glu,ENST00000545763,NM_001080541.2;MGA,missense_variant,p.Lys626Glu,ENST00000564190,;MGA,non_coding_transcript_exon_variant,,ENST00000566288,;	G	ENST00000219905	Transcript	missense_variant	6113/12042	5932/9198	1978/3065	K/E	Aaa/Gaa		1		1	MGA	HGNC	HGNC:14010	protein_coding	YES	CCDS55959.1	ENSP00000219905	Q8IWI9		UPI0001B2337E	NM_001164273.1	deleterious_low_confidence(0.02)		17/24		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	80	41749539	41749539	A	G	1	0	0	0	0	1	0	0	0	9498	247	9	5		5	MGA	15	41749539	Missense_Mutation	SNP	A	C3N-01488_TP	1124760	41749539	60241650	417	26381											
STRC	0	.	GRCh38	chr15	43618017	43618017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacaagtccacccagcaccCctgcctggtgcaccaggaaa	11	4	8	18	0	0	0	0	0	0	0	1	1	1	1	7	2	3	2	7	2	2	0	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.404G>T	p.Gly135Val	p.G135V	ENST00000450892	2/29	231	212	19	321	321	0	varscan-mutect	STRC,missense_variant,p.Gly135Val,ENST00000450892,NM_153700.2;STRC,missense_variant,p.Gly75Val,ENST00000432436,;STRC,5_prime_UTR_variant,,ENST00000541030,;STRC,missense_variant,p.Gly135Val,ENST00000428650,;STRC,missense_variant,p.Gly135Val,ENST00000440125,;STRC,upstream_gene_variant,,ENST00000485556,;STRC,upstream_gene_variant,,ENST00000471703,;STRC,upstream_gene_variant,,ENST00000448437,;STRC,upstream_gene_variant,,ENST00000455136,;STRC,upstream_gene_variant,,ENST00000483250,;STRC,upstream_gene_variant,,ENST00000470279,;	A	ENST00000450892	Transcript	missense_variant	482/5680	404/5328	135/1775	G/V	gGg/gTg		1		-1	STRC	HGNC	HGNC:16035	protein_coding	YES	CCDS10098.1	ENSP00000401513	Q7RTU9		UPI000013E60F	NM_153700.2	tolerated(0.2)		2/29		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	80	43618017	43618017	C	A	1	0	0	0	0	1	0	0	0	15709	623	22	2		2	STRC	15	43618017	Missense_Mutation	SNP	C	C3N-01488_TP	1868478	43618017	58373172	418	26382											
FBN1	0	.	GRCh38	chr15	48412719	48412719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgggtttcctcggccCatgcccattccagaaacaca	8	9	9	15	1	1	1	0	0	1	1	4	1	3	1	4	3	2	2	4	3	1	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.8076G>T	p.Met2692Ile	p.M2692I	ENST00000316623	65/66	586	479	107	788	786	2	strelka-varscan-mutect	FBN1,missense_variant,p.Met2692Ile,ENST00000316623,NM_000138.4;FBN1,non_coding_transcript_exon_variant,,ENST00000561429,;FBN1,3_prime_UTR_variant,,ENST00000559133,;	A	ENST00000316623	Transcript	missense_variant	8532/11756	8076/8616	2692/2871	M/I	atG/atT		1		-1	FBN1	HGNC	HGNC:3603	protein_coding	YES	CCDS32232.1	ENSP00000325527	P35555		UPI0000EE4EBC	NM_000138.4	tolerated(0.12)		65/66		PIRSF_domain:PIRSF036312,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	48412719	48412719	C	A	1	0	0	0	0	1	0	0	0	5565	594	21	2		2	FBN1	15	48412719	Missense_Mutation	SNP	C	C3N-01488_TP	4794702	48412719	53578470	419	26383											
AP4E1	0	.	GRCh38	chr15	50929125	50929125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actttgtgacagagatgttgGggtcatggctgcctccttgc	6	13	13	9	0	1	2	1	1	0	1	2	3	2	2	2	3	2	2	2	3	0	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.659G>T	p.Gly220Val	p.G220V	ENST00000261842	6/21	300	254	46	469	469	0	strelka-varscan-mutect	AP4E1,missense_variant,p.Gly220Val,ENST00000261842,NM_007347.4;AP4E1,missense_variant,p.Gly145Val,ENST00000560508,NM_001252127.1;AP4E1,missense_variant,p.Gly220Val,ENST00000558439,;AP4E1,missense_variant,p.Gly145Val,ENST00000561393,;AP4E1,missense_variant,p.Gly220Val,ENST00000561441,;	T	ENST00000261842	Transcript	missense_variant	765/6758	659/3414	220/1137	G/V	gGg/gTg		1		1	AP4E1	HGNC	HGNC:573	protein_coding	YES	CCDS32240.1	ENSP00000261842	Q9UPM8		UPI00001D89D8	NM_007347.4	deleterious(0)		6/21		hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF13,Pfam_domain:PF01602,PIRSF_domain:PIRSF037097,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	50929125	50929125	G	T	1	0	0	0	0	1	0	0	0	868	1232	43	2		2	AP4E1	15	50929125	Missense_Mutation	SNP	G	C3N-01488_TP	2516406	50929125	51062064	420	26384											
MYO5C	0	.	GRCh38	chr15	52272720	52272720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtcttggcatttccaaCggcctaaaaaaaataagact	14	10	9	8	1	1	1	0	0	1	1	2	1	2	1	2	4	1	1	2	4	6	4	rs368931124		C3N-01488_TP	C3N-01488_NB	C	C																c.610G>T	p.Val204Phe	p.V204F	ENST00000261839	6/41	162	125	37	220	220	0	strelka-varscan-mutect	MYO5C,missense_variant,p.Val204Phe,ENST00000261839,NM_018728.3;MYO5C,missense_variant,p.Val97Phe,ENST00000558479,;MIR1266,downstream_gene_variant,,ENST00000408125,;MYO5C,non_coding_transcript_exon_variant,,ENST00000541028,;MYO5C,missense_variant,p.Val204Phe,ENST00000560809,;MYO5C,missense_variant,p.Val204Phe,ENST00000559459,;MYO5C,3_prime_UTR_variant,,ENST00000558902,;	A	ENST00000261839	Transcript	missense_variant	772/6971	610/5229	204/1742	V/F	Gtt/Ttt	rs368931124	1		-1	MYO5C	HGNC	HGNC:7604	protein_coding	YES	CCDS42036.1	ENSP00000261839	Q9NQX4		UPI000013D20E	NM_018728.3	tolerated(0.26)		6/41		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF313,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193																	MODERATE	1	SNV	1			1										PASS		rs368931124	.												A	3	1	80	52272720	52272720	C	A	1	0	0	0	0	1	0	0	0	10081	550	19	1		1	MYO5C	15	52272720	Missense_Mutation	SNP	C	C3N-01488_TP	1343595	52272720	49718469	421	26385											
UNC13C	0	.	GRCh38	chr15	54414990	54414990	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggttttaggtttcctcAagagctgaacatgggaaaaa	12	13	11	5	0	1	2	1	1	0	1	2	3	2	3	1	3	2	4	1	3	5	4	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.4856A>T	p.Gln1619Leu	p.Q1619L	ENST00000260323	18/32	118	107	11	198	197	1	strelka-varscan-mutect	UNC13C,missense_variant,p.Gln1619Leu,ENST00000260323,NM_001080534.1;UNC13C,non_coding_transcript_exon_variant,,ENST00000561210,;	T	ENST00000260323	Transcript	missense_variant	4856/12946	4856/6645	1619/2214	Q/L	cAa/cTa		1		1	UNC13C	HGNC	HGNC:23149	protein_coding	YES	CCDS45264.1	ENSP00000260323	Q8NB66		UPI0000DD82AB	NM_001080534.1	deleterious_low_confidence(0)		18/32		Pfam_domain:PF06292,hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2,SMART_domains:SM01145																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	54414990	54414990	A	T	1	0	0	0	0	1	0	0	0	17510	130	5	4		4	UNC13C	15	54414990	Missense_Mutation	SNP	A	C3N-01488_TP	2142270	54414990	47576199	422	26386											
UNC13C	0	.	GRCh38	chr15	54555466	54555466	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggatgccaggggtctgaCgccaagacaatgcgctataa	13	6	13	9	2	1	3	0	1	1	2	1	4	1	4	2	3	2	1	2	3	4	2	rs186728296		C3N-01488_TP	C3N-01488_NB	C	C																c.5912C>G	p.Thr1971Arg	p.T1971R	ENST00000260323	28/32	240	206	34	336	335	1	strelka-varscan-mutect	UNC13C,missense_variant,p.Thr1971Arg,ENST00000260323,NM_001080534.1;	G	ENST00000260323	Transcript	missense_variant	5912/12946	5912/6645	1971/2214	T/R	aCg/aGg	rs186728296,COSM3816370,COSM3816371,COSM3816372	1		1	UNC13C	HGNC	HGNC:23149	protein_coding	YES	CCDS45264.1	ENSP00000260323	Q8NB66		UPI0000DD82AB	NM_001080534.1	deleterious_low_confidence(0)		28/32		Pfam_domain:PF10540,PROSITE_profiles:PS51259,hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2											0,1,1,1						MODERATE	1	SNV	5		0,1,1,1	1										PASS		rs186728296	.												G	3	3	80	54555466	54555466	C	G	1	0	0	0	0	1	0	0	0	17510	536	19	4		4	UNC13C	15	54555466	Missense_Mutation	SNP	C	C3N-01488_TP	140476	54555466	47435723	423	26387											
FBXL22	0	.	GRCh38	chr15	63597466	63597466	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcttctccttcctagAcaaggacagcaggaagagcc	11	7	9	14	0	2	2	0	0	2	2	4	4	3	4	4	2	2	2	4	2	3	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.74A>G	p.Asp25Gly	p.D25G	ENST00000360587	1/2	157	127	30	172	172	0	strelka-varscan-mutect	FBXL22,missense_variant,p.Asp25Gly,ENST00000534939,;FBXL22,missense_variant,p.Asp25Gly,ENST00000360587,NM_203373.2;USP3,downstream_gene_variant,,ENST00000540797,NM_001256702.1;USP3,downstream_gene_variant,,ENST00000268049,;FBXL22,upstream_gene_variant,,ENST00000560325,;USP3-AS1,intron_variant,,ENST00000560962,;USP3-AS1,intron_variant,,ENST00000558831,;USP3-AS1,intron_variant,,ENST00000559737,;USP3-AS1,intron_variant,,ENST00000561191,;USP3-AS1,intron_variant,,ENST00000561256,;USP3-AS1,intron_variant,,ENST00000560622,;USP3-AS1,upstream_gene_variant,,ENST00000559861,;USP3,downstream_gene_variant,,ENST00000559192,;USP3,downstream_gene_variant,,ENST00000559257,;USP3,downstream_gene_variant,,ENST00000560202,;	G	ENST00000360587	Transcript	missense_variant	114/1526	74/744	25/247	D/G	gAc/gGc		1		1	FBXL22	HGNC	HGNC:27537	protein_coding	YES	CCDS10187.2	ENSP00000353794	Q6P050		UPI0000408A7A	NM_203373.2	deleterious_low_confidence(0.03)		1/2		Pfam_domain:PF12937,Gene3D:1.20.1280.50,Superfamily_domains:SSF81383																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	63597466	63597466	A	G	1	0	0	0	0	1	0	0	0	5582	275	10	5		5	FBXL22	15	63597466	Missense_Mutation	SNP	A	C3N-01488_TP	9042000	63597466	38393723	424	26388											
FAM96A	0	.	GRCh38	chr15	64075527	64075527	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgggttccttcagaaatgTagatttccaactggaaagtg	12	12	11	6	0	1	2	1	0	0	2	3	3	3	3	2	2	1	2	2	2	4	4	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.350A>T	p.Tyr117Phe	p.Y117F	ENST00000300030	4/5	145	128	17	231	229	2	strelka-varscan-mutect	FAM96A,missense_variant,p.Tyr117Phe,ENST00000300030,NM_032231.5;FAM96A,missense_variant,p.Tyr117Phe,ENST00000559950,;FAM96A,synonymous_variant,p.=,ENST00000557835,NM_001289108.1;FAM96A,synonymous_variant,p.=,ENST00000380290,NM_001014812.2;DAPK2,upstream_gene_variant,,ENST00000559306,;FAM96A,upstream_gene_variant,,ENST00000558779,;FAM96A,3_prime_UTR_variant,,ENST00000559705,;	A	ENST00000300030	Transcript	missense_variant	600/1105	350/483	117/160	Y/F	tAc/tTc		1		-1	FAM96A	HGNC	HGNC:26235	protein_coding	YES	CCDS10189.1	ENSP00000300030	Q9H5X1		UPI0000137917	NM_032231.5	tolerated(0.48)		4/5		hmmpanther:PTHR12377,hmmpanther:PTHR12377:SF2,Superfamily_domains:SSF117916																	MODERATE	1	SNV	1			1										PASS		rs1238811900	.												A	3	1	80	64075527	64075527	T	A	1	0	0	0	0	1	0	0	0	5512	1638	57	4		4	FAM96A	15	64075527	Missense_Mutation	SNP	T	C3N-01488_TP	478061	64075527	37915662	425	26389											
PML	0	.	GRCh38	chr15	74044450	74044450	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggacattaacaggctGtgggaattccaggaggccat	11	8	14	8	0	0	0	0	0	0	0	1	4	1	4	2	6	1	1	2	6	2	2	rs756674362		C3N-01488_TP	C3N-01488_NB	G	G																c.2091G>T	p.=	p.L697L	ENST00000268058	9/9	627	532	95	720	719	1	strelka-varscan-mutect	PML,synonymous_variant,p.=,ENST00000565898,;PML,synonymous_variant,p.=,ENST00000268058,NM_033238.2;PML,downstream_gene_variant,,ENST00000395135,NM_002675.3;PML,downstream_gene_variant,,ENST00000569965,;PML,downstream_gene_variant,,ENST00000564428,NM_033249.2;PML,downstream_gene_variant,,ENST00000359928,NM_033246.2;PML,downstream_gene_variant,,ENST00000565317,;	T	ENST00000268058	Transcript	synonymous_variant	2187/4508	2091/2649	697/882	L	ctG/ctT	rs756674362	1		1	PML	HGNC	HGNC:9113	protein_coding	YES	CCDS10255.1	ENSP00000268058	P29590		UPI000013D78F	NM_033238.2			9/9																			LOW	1	SNV	1			1										PASS		rs756674362	.												T	2	4	80	74044450	74044450	G	T	1	0	0	0	0	0	0	0	1	12242	1364	48	2		2	PML	15	74044450	Silent	SNP	G	C3N-01488_TP	9968923	74044450	27946739	426	26390											
ALPK3	0	.	GRCh38	chr15	84860063	84860063	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggattcatctccagagaaGaaggtgaaggtatggttccc	12	9	12	8	0	2	3	1	1	1	2	4	5	3	4	2	4	0	2	2	4	4	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.4726G>T	p.Glu1576Ter	p.E1576*	ENST00000258888	9/14	201	174	27	303	303	0	strelka-varscan-mutect	ALPK3,stop_gained,p.Glu1576Ter,ENST00000258888,NM_020778.4;ALPK3,upstream_gene_variant,,ENST00000558077,;	T	ENST00000258888	Transcript	stop_gained	4893/10917	4726/5724	1576/1907	E/*	Gaa/Taa		1		1	ALPK3	HGNC	HGNC:17574	protein_coding	YES	CCDS10333.1	ENSP00000258888	Q96L96		UPI000013D013	NM_020778.4			9/14		Low_complexity_(Seg):seg,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF667,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	80	84860063	84860063	G	T	1	0	0	0	0	0	1	0	0	646	943	33	2		2	ALPK3	15	84860063	Nonsense_Mutation	SNP	G	C3N-01488_TP	10815613	84860063	17131126	427	26391											
AKAP13	0	.	GRCh38	chr15	85575177	85575177	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagcagtttatcctatgaaAtaccgtatggagactgttct	11	13	10	7	1	1	2	0	1	1	1	2	4	2	3	2	2	2	4	2	2	5	6	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.709A>G	p.Ile237Val	p.I237V	ENST00000361243	6/37	345	321	24	413	412	1	strelka-varscan-mutect	AKAP13,missense_variant,p.Ile237Val,ENST00000394518,NM_007200.4;AKAP13,missense_variant,p.Ile237Val,ENST00000361243,NM_006738.5;AKAP13,missense_variant,p.Ile237Val,ENST00000559362,;AKAP13,missense_variant,p.Ile29Val,ENST00000558811,;AKAP13,5_prime_UTR_variant,,ENST00000558166,;RP11-815J21.2,downstream_gene_variant,,ENST00000561409,;	G	ENST00000361243	Transcript	missense_variant	790/9468	709/8454	237/2817	I/V	Ata/Gta		1		1	AKAP13	HGNC	HGNC:371	protein_coding	YES	CCDS32320.1	ENSP00000354718	Q12802		UPI00001A8BEB	NM_006738.5	tolerated(0.38)		6/37		hmmpanther:PTHR13944,hmmpanther:PTHR13944:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	85575177	85575177	A	G	1	0	0	0	0	1	0	0	0	532	101	4	5		5	AKAP13	15	85575177	Missense_Mutation	SNP	A	C3N-01488_TP	715114	85575177	16416012	428	26392											
AGBL1	0	.	GRCh38	chr15	86269942	86269942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgagtatgacttgctggtcaAcgcagatgtgaatagcaccc	11	9	11	10	2	1	3	1	2	0	1	1	4	1	3	1	1	3	4	1	1	4	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1862A>T	p.Asn621Ile	p.N621I	ENST00000441037	14/25	159	134	25	188	187	1	strelka-varscan-mutect	AGBL1,missense_variant,p.Asn621Ile,ENST00000441037,;AGBL1,missense_variant,p.Asn575Ile,ENST00000635782,NM_152336.2;AGBL1,missense_variant,p.Asn575Ile,ENST00000421325,;AGBL1,non_coding_transcript_exon_variant,,ENST00000567715,;AGBL1,non_coding_transcript_exon_variant,,ENST00000568785,;	T	ENST00000441037	Transcript	missense_variant	1862/3551	1862/3339	621/1112	N/I	aAc/aTc		1		1	AGBL1	Clone_based_vega_gene	HGNC:26504	protein_coding	YES		ENSP00000413001	Q96MI9		UPI000387C1D9		deleterious(0)		14/25		hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF5																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	86269942	86269942	A	T	1	0	0	0	0	1	0	0	0	451	43	2	4		4	AGBL1	15	86269942	Missense_Mutation	SNP	A	C3N-01488_TP	694765	86269942	15721247	429	26393											
DET1	0	.	GRCh38	chr15	88530764	88530764	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaagcgcctcttggcCattgcactaccatcctgttc	8	11	9	13	1	1	1	0	0	1	1	3	2	2	2	4	2	3	2	4	2	3	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.975G>T	p.Met325Ile	p.M325I	ENST00000564406	3/6	229	199	30	309	309	0	strelka-varscan-mutect	DET1,missense_variant,p.Met325Ile,ENST00000564406,NM_001321596.1,NM_017996.3;DET1,missense_variant,p.Met314Ile,ENST00000268148,NM_001321596.1,NM_001144074.1;DET1,missense_variant,p.Met325Ile,ENST00000444300,NM_001321596.1;DET1,downstream_gene_variant,,ENST00000558413,;DET1,downstream_gene_variant,,ENST00000559656,;DET1,3_prime_UTR_variant,,ENST00000557842,;DET1,3_prime_UTR_variant,,ENST00000557837,;	A	ENST00000564406	Transcript	missense_variant	1136/2315	975/1686	325/561	M/I	atG/atT		1		-1	DET1	HGNC	HGNC:25477	protein_coding	YES	CCDS45343.1	ENSP00000456340	Q7L5Y6		UPI00001A8183	NM_001321596.1,NM_017996.3	tolerated(0.42)		3/6		hmmpanther:PTHR13374,Pfam_domain:PF09737																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	80	88530764	88530764	C	A	1	0	0	0	0	1	0	0	0	4258	594	21	2		2	DET1	15	88530764	Missense_Mutation	SNP	C	C3N-01488_TP	2260822	88530764	13460425	430	26394											
IGF1R	0	.	GRCh38	chr15	98913135	98913135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggacctcccgcccaacaagGacgtggagcccggcatctta	9	6	11	15	3	1	0	0	0	1	0	2	3	2	3	4	4	2	1	4	4	3	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1681G>T	p.Asp561Tyr	p.D561Y	ENST00000268035	8/21	293	275	18	365	365	0	strelka-varscan-mutect	IGF1R,missense_variant,p.Asp561Tyr,ENST00000268035,NM_000875.4;IGF1R,missense_variant,p.Asp561Tyr,ENST00000558762,NM_001291858.1;IGF1R,downstream_gene_variant,,ENST00000558898,;IGF1R,downstream_gene_variant,,ENST00000559582,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;IGF1R,upstream_gene_variant,,ENST00000561049,;IGF1R,upstream_gene_variant,,ENST00000560144,;	T	ENST00000268035	Transcript	missense_variant	2292/11803	1681/4104	561/1367	D/Y	Gac/Tac		1		1	IGF1R	HGNC	HGNC:5465	protein_coding	YES	CCDS10378.1	ENSP00000268035	P08069		UPI000012D3EA	NM_000875.4	deleterious(0.01)		8/21		PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000620,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	98913135	98913135	G	T	1	0	0	0	0	1	0	0	0	7477	1174	41	2		2	IGF1R	15	98913135	Missense_Mutation	SNP	G	C3N-01488_TP	10382371	98913135	3078054	431	26395											
LRRK1	0	.	GRCh38	chr15	101022525	101022525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacggggagggccccccaGgtggtgcatggagaggccac	8	3	18	12	1	0	2	0	0	0	2	0	4	0	3	4	7	1	1	4	7	0	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1995G>T	p.Gln665His	p.Q665H	ENST00000388948	15/34	240	203	37	274	274	0	strelka-varscan-mutect	LRRK1,missense_variant,p.Gln665His,ENST00000388948,NM_024652.4;LRRK1,missense_variant,p.Gln665His,ENST00000525284,;LRRK1,non_coding_transcript_exon_variant,,ENST00000525617,;LRRK1,non_coding_transcript_exon_variant,,ENST00000538064,;LRRK1,intron_variant,,ENST00000531270,;	T	ENST00000388948	Transcript	missense_variant	2354/7671	1995/6048	665/2015	Q/H	caG/caT		1		1	LRRK1	HGNC	HGNC:18608	protein_coding	YES	CCDS42086.1	ENSP00000373600	Q38SD2		UPI0000D4FE63	NM_024652.4	tolerated(0.13)		15/34		Gene3D:2zejA01,Pfam_domain:PF08477,PROSITE_profiles:PS51424,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	101022525	101022525	G	T	1	0	0	0	0	1	0	0	0	8938	991	35	2		2	LRRK1	15	101022525	Missense_Mutation	SNP	G	C3N-01488_TP	2109390	101022525	968664	432	26396											
RPUSD1	0	.	GRCh38	chr16	787643	787643	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagagtctcccgccacgccTtgctgtcaatgcgaacgtcc	7	9	9	16	4	3	1	2	0	1	1	5	2	4	1	4	0	3	1	4	0	2	1	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.95A>T	p.Lys32Met	p.K32M	ENST00000561734	1/5	343	321	22	411	410	1	strelka-varscan-mutect	RPUSD1,missense_variant,p.Lys32Met,ENST00000561734,;RPUSD1,missense_variant,p.Lys32Met,ENST00000007264,NM_001324415.1,NM_001324086.1,NM_058192.2;RPUSD1,missense_variant,p.Lys32Met,ENST00000565809,NM_001324411.1;RPUSD1,missense_variant,p.Lys32Met,ENST00000563560,;RPUSD1,splice_region_variant,,ENST00000565377,;RPUSD1,splice_region_variant,,ENST00000569601,;RPUSD1,intron_variant,,ENST00000567114,NM_001324412.1;CHTF18,upstream_gene_variant,,ENST00000631357,;CHTF18,upstream_gene_variant,,ENST00000455171,;CHTF18,upstream_gene_variant,,ENST00000262315,NM_022092.2;CHTF18,upstream_gene_variant,,ENST00000317063,;MSLNL,upstream_gene_variant,,ENST00000442466,;RPUSD1,upstream_gene_variant,,ENST00000562070,;CHTF18,upstream_gene_variant,,ENST00000426047,;CHTF18,upstream_gene_variant,,ENST00000491530,;CHTF18,upstream_gene_variant,,ENST00000461268,;CHTF18,upstream_gene_variant,,ENST00000570058,;RPUSD1,missense_variant,p.Lys32Met,ENST00000567283,;RPUSD1,missense_variant,p.Lys32Met,ENST00000565503,;CHTF18,upstream_gene_variant,,ENST00000471202,;CHTF18,upstream_gene_variant,,ENST00000464728,;CHTF18,upstream_gene_variant,,ENST00000440239,;CHTF18,upstream_gene_variant,,ENST00000479976,;CHTF18,upstream_gene_variant,,ENST00000569270,;CHTF18,upstream_gene_variant,,ENST00000567620,;CHTF18,upstream_gene_variant,,ENST00000565787,;CHTF18,upstream_gene_variant,,ENST00000563545,;CHTF18,upstream_gene_variant,,ENST00000484349,;	A	ENST00000561734	Transcript	missense_variant	339/2159	95/939	32/312	K/M	aAg/aTg		1		-1	RPUSD1	HGNC	HGNC:14173	protein_coding	YES	CCDS10426.1	ENSP00000455026	Q9UJJ7		UPI0000073C11		deleterious(0)		1/5		Pfam_domain:PF00849,hmmpanther:PTHR11079,hmmpanther:PTHR11079:SF64,Superfamily_domains:SSF55120																	MODERATE	1	SNV	1			1										PASS		rs1222000832	.												A	3	1	80	787643	787643	T	A	1	0	0	0	0	1	0	0	0	13921	1609	56	4		4	RPUSD1	16	787643	Missense_Mutation	SNP	T	C3N-01488_TP		787643	89550702	433	26397											
CACNA1H	0	.	GRCh38	chr16	1208073	1208073	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagggacgaggcagccTgtcccctcccctcatcatgt	6	8	11	16	1	2	0	2	0	0	0	4	3	4	2	6	3	1	1	6	3	0	0	rs769013395		C3N-01488_TP	C3N-01488_NB	T	T																c.3215T>A	p.Leu1072Gln	p.L1072Q	ENST00000348261	16/35	339	274	65	374	374	0	strelka-varscan-mutect	CACNA1H,missense_variant,p.Leu1072Gln,ENST00000348261,NM_021098.2;CACNA1H,missense_variant,p.Leu1072Gln,ENST00000358590,NM_001005407.1;CACNA1H,missense_variant,p.Leu1072Gln,ENST00000565831,;CACNA1H,upstream_gene_variant,,ENST00000569107,;CACNA1H,upstream_gene_variant,,ENST00000564231,;CACNA1H,upstream_gene_variant,,ENST00000562079,;RP11-616M22.3,upstream_gene_variant,,ENST00000564700,;CACNA1H,upstream_gene_variant,,ENST00000637236,;CACNA1H,upstream_gene_variant,,ENST00000569953,;	A	ENST00000348261	Transcript	missense_variant	3583/8208	3215/7062	1072/2353	L/Q	cTg/cAg	rs769013395	1		1	CACNA1H	HGNC	HGNC:1395	protein_coding	YES	CCDS45375.1	ENSP00000334198	O95180		UPI000012727B	NM_021098.2	deleterious(0.01)		16/35		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192																	MODERATE	1	SNV	1			1										PASS		rs769013395	.												A	3	1	80	1208073	1208073	T	A	1	0	0	0	0	1	0	0	0	2233	1580	55	4		4	CACNA1H	16	1208073	Missense_Mutation	SNP	T	C3N-01488_TP	420430	1208073	89130272	434	26398											
CACNA1H	0	.	GRCh38	chr16	1217973	1217973	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggcacgccaccttcagcaActtcggcatggccttcctca	8	8	8	17	2	2	0	2	0	0	0	4	0	3	0	4	3	2	3	4	3	1	3	rs72552051		C3N-01488_TP	C3N-01488_NB	A	A																c.5378A>T	p.Asn1793Ile	p.N1793I	ENST00000348261	32/35	166	142	24	203	203	0	strelka-varscan-mutect	CACNA1H,missense_variant,p.Asn1793Ile,ENST00000348261,NM_021098.2;CACNA1H,missense_variant,p.Asn1787Ile,ENST00000358590,NM_001005407.1;CACNA1H,missense_variant,p.Asn1787Ile,ENST00000565831,;CACNA1H,missense_variant,p.Asn540Ile,ENST00000569107,;CACNA1H,missense_variant,p.Asn535Ile,ENST00000564231,;CACNA1H,missense_variant,p.Asn529Ile,ENST00000562079,;TPSG1,downstream_gene_variant,,ENST00000234798,NM_012467.3;TPSG1,downstream_gene_variant,,ENST00000564684,;	T	ENST00000348261	Transcript	missense_variant	5746/8208	5378/7062	1793/2353	N/I	aAc/aTc	rs72552051	1		1	CACNA1H	HGNC	HGNC:1395	protein_coding	YES	CCDS45375.1	ENSP00000334198	O95180		UPI000012727B	NM_021098.2	deleterious(0)		32/35		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF192,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs72552051	.												T	3	4	80	1217973	1217973	A	T	1	0	0	0	0	1	0	0	0	2233	43	2	4		4	CACNA1H	16	1217973	Missense_Mutation	SNP	A	C3N-01488_TP	9900	1217973	89120372	435	26399											
ABCA3	0	.	GRCh38	chr16	2277881	2277881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccggggccggcacacacctGgaaaggtcaggtccacgaag	10	3	15	13	3	1	0	1	0	0	0	2	2	2	1	4	6	0	1	4	6	2	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.4907C>T	p.Pro1636Leu	p.P1636L	ENST00000301732	31/33	357	294	63	425	424	1	strelka-varscan-mutect	ABCA3,missense_variant,p.Pro1636Leu,ENST00000301732,NM_001089.2;ABCA3,missense_variant,p.Pro1578Leu,ENST00000382381,;MIR940,downstream_gene_variant,,ENST00000563734,;MIR940,downstream_gene_variant,,ENST00000562838,;MIR940,downstream_gene_variant,,ENST00000567888,;MIR4717,downstream_gene_variant,,ENST00000584656,;ABCA3,downstream_gene_variant,,ENST00000566200,;ABCA3,downstream_gene_variant,,ENST00000569062,;	A	ENST00000301732	Transcript	missense_variant,splice_region_variant	5608/6609	4907/5115	1636/1704	P/L	cCa/cTa		1		-1	ABCA3	HGNC	HGNC:33	protein_coding	YES	CCDS10466.1	ENSP00000301732	Q99758		UPI0000001232	NM_001089.2	deleterious(0)		31/33		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	2277881	2277881	G	A	1	0	0	0	0	1	0	0	0	37	1362	47	3		3	ABCA3	16	2277881	Missense_Mutation	SNP	G	C3N-01488_TP	1059908	2277881	88060464	436	26400											
CREBBP	0	.	GRCh38	chr16	3731269	3731269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagacaaagcggtcctggcCctgggtgtgcagctccacca	8	7	13	13	1	0	1	0	0	0	1	2	1	2	1	4	3	3	3	4	3	2	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.5095G>T	p.Gly1699Cys	p.G1699C	ENST00000262367	30/31	331	264	67	399	398	1	strelka-varscan-mutect	CREBBP,missense_variant,p.Gly1699Cys,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.Gly1661Cys,ENST00000382070,NM_001079846.1;CREBBP,downstream_gene_variant,,ENST00000570939,;CREBBP,upstream_gene_variant,,ENST00000637492,;CREBBP,downstream_gene_variant,,ENST00000576720,;CREBBP,downstream_gene_variant,,ENST00000571763,;	A	ENST00000262367	Transcript	missense_variant	5905/10803	5095/7329	1699/2442	G/C	Ggc/Tgc		1		-1	CREBBP	HGNC	HGNC:2348	protein_coding	YES	CCDS10509.1	ENSP00000262367	Q92793		UPI0000000620	NM_004380.2	deleterious(0.01)		30/31		PROSITE_profiles:PS51727,hmmpanther:PTHR13808:SF5,hmmpanther:PTHR13808																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	3731269	3731269	C	A	1	0	0	0	0	1	0	0	0	3661	623	22	2		2	CREBBP	16	3731269	Missense_Mutation	SNP	C	C3N-01488_TP	1453388	3731269	86607076	437	26401											
NUDT16L1	0	.	GRCh38	chr16	4694219	4694219	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcagcgcggtgcactCgcgcgaccacggcctggagg	7	4	17	13	6	1	1	1	0	0	1	2	4	1	2	2	5	2	1	2	5	0	0	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.395C>A	p.Ser132Ter	p.S132*	ENST00000304301	2/3	93	83	10	107	107	0	strelka-varscan-mutect	NUDT16L1,stop_gained,p.Ser132Ter,ENST00000405142,;NUDT16L1,stop_gained,p.Ser132Ter,ENST00000586536,NM_001193452.1;NUDT16L1,stop_gained,p.Ser132Ter,ENST00000304301,NM_032349.3;NUDT16L1,stop_gained,p.Ser132Ter,ENST00000586252,;NUDT16L1,stop_gained,p.Ser119Ter,ENST00000590460,;MGRN1,downstream_gene_variant,,ENST00000399577,NM_001142290.2;MGRN1,downstream_gene_variant,,ENST00000415496,NM_001142291.2;MGRN1,downstream_gene_variant,,ENST00000262370,NM_015246.3;ANKS3,downstream_gene_variant,,ENST00000304283,NM_133450.3;ANKS3,downstream_gene_variant,,ENST00000614075,;ANKS3,downstream_gene_variant,,ENST00000450067,NM_001242929.1;ANKS3,downstream_gene_variant,,ENST00000446014,NM_001308089.1;ANKS3,downstream_gene_variant,,ENST00000585773,;ANKS3,downstream_gene_variant,,ENST00000588513,;ANKS3,downstream_gene_variant,,ENST00000591653,;ANKS3,downstream_gene_variant,,ENST00000590803,;ANKS3,downstream_gene_variant,,ENST00000592077,;ANKS3,downstream_gene_variant,,ENST00000590193,;ANKS3,downstream_gene_variant,,ENST00000589035,;ANKS3,downstream_gene_variant,,ENST00000591185,;ANKS3,downstream_gene_variant,,ENST00000588398,;	A	ENST00000304301	Transcript	stop_gained	428/1349	395/636	132/211	S/*	tCg/tAg		1		1	NUDT16L1	HGNC	HGNC:28154	protein_coding	YES	CCDS10519.1	ENSP00000306670	Q9BRJ7		UPI0000071EB2	NM_032349.3			2/3		Gene3D:3.90.79.10,hmmpanther:PTHR31699,hmmpanther:PTHR31699:SF6,Superfamily_domains:SSF55811																	HIGH	1	SNV	1			1										PASS		rs1387387964	.												A	4	1	80	4694219	4694219	C	A	1	0	0	0	0	0	1	0	0	10797	893	31	1		1	NUDT16L1	16	4694219	Nonsense_Mutation	SNP	C	C3N-01488_TP	962950	4694219	85644126	438	26402											
GRIN2A	0	.	GRCh38	chr16	9938393	9938393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccacaaagctgttgtcCactgtggtcttgacgaagct	9	10	10	12	1	1	1	0	1	1	0	2	2	2	1	2	1	3	3	2	1	2	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.573G>A	p.=	p.V191V	ENST00000396573	4/14	219	174	45	305	305	0	strelka-varscan-mutect	GRIN2A,synonymous_variant,p.=,ENST00000396573,NM_000833.4;GRIN2A,synonymous_variant,p.=,ENST00000396575,;GRIN2A,synonymous_variant,p.=,ENST00000330684,NM_001134407.2;GRIN2A,synonymous_variant,p.=,ENST00000562109,NM_001134408.2;GRIN2A,synonymous_variant,p.=,ENST00000535259,;GRIN2A,synonymous_variant,p.=,ENST00000637393,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000636273,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000461292,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000568247,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000566670,;GRIN2A,intron_variant,,ENST00000566683,;	T	ENST00000396573	Transcript	synonymous_variant	883/14450	573/4395	191/1464	V	gtG/gtA		1		-1	GRIN2A	HGNC	HGNC:4585	protein_coding	YES	CCDS10539.1	ENSP00000379818	Q12879	Q547U9	UPI000000D7AB	NM_000833.4			4/14		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF16,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	80	9938393	9938393	C	T	1	0	0	0	0	0	0	0	1	6661	581	21	3		3	GRIN2A	16	9938393	Silent	SNP	C	C3N-01488_TP	5244174	9938393	80399952	439	26403											
MYH11	0	.	GRCh38	chr16	15756455	15756455	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccacgaaagacttgtcCgtggctttggggaaccagca	9	10	11	11	2	1	1	0	0	1	1	3	3	2	2	3	3	2	2	3	3	2	3	rs773802963		C3N-01488_TP	C3N-01488_NB	C	C																c.1656G>A	p.=	p.T552T	ENST00000396324	15/42	316	241	75	340	339	1	strelka-varscan-mutect	MYH11,synonymous_variant,p.=,ENST00000452625,NM_001040113.1;MYH11,synonymous_variant,p.=,ENST00000396324,NM_001040114.1;MYH11,synonymous_variant,p.=,ENST00000576790,NM_022844.2;MYH11,synonymous_variant,p.=,ENST00000300036,NM_002474.2;MYH11,non_coding_transcript_exon_variant,,ENST00000570785,;	T	ENST00000396324	Transcript	synonymous_variant	1744/6847	1656/5940	552/1979	T	acG/acA	rs773802963,COSM283014,COSM283015	1		-1	MYH11	HGNC	HGNC:7569	protein_coding	YES	CCDS45423.1	ENSP00000379616	P35749		UPI00005B7237	NM_001040114.1			15/42		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335,SMART_domains:SM00242,Superfamily_domains:SSF52540											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs773802963	.												T	2	4	80	15756455	15756455	C	T	1	0	0	0	0	0	0	0	1	10031	639	23	1		1	MYH11	16	15756455	Silent	SNP	C	C3N-01488_TP	5818062	15756455	74581890	440	26404											
ACSM2B	0	.	GRCh38	chr16	20545226	20545226	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgtctccttctgtgccGgggggcaggacgttgccctt	4	11	13	13	2	2	0	0	0	2	0	3	1	2	1	4	4	2	2	4	4	1	3	rs367747928,rs758760721		C3N-01488_TP	C3N-01488_NB	G	G																c.1212C>A	p.=	p.P404P	ENST00000329697	10/14	101	90	11	106	106	0	varscan-mutect	ACSM2B,synonymous_variant,p.=,ENST00000329697,NM_001105069.1;ACSM2B,synonymous_variant,p.=,ENST00000414188,;ACSM2B,synonymous_variant,p.=,ENST00000565232,;ACSM2B,synonymous_variant,p.=,ENST00000567001,NM_182617.3;ACSM2B,synonymous_variant,p.=,ENST00000565322,;ACSM2B,synonymous_variant,p.=,ENST00000567288,;ACSM2B,downstream_gene_variant,,ENST00000569163,;ACSM2B,upstream_gene_variant,,ENST00000568098,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569131,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000566998,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569364,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000563943,;ACSM2B,downstream_gene_variant,,ENST00000569327,;ACSM2B,upstream_gene_variant,,ENST00000564849,;	T	ENST00000329697	Transcript	synonymous_variant	1381/2935	1212/1734	404/577	P	ccC/ccA	rs367747928,rs758760721,COSM1717948	1		-1	ACSM2B	HGNC	HGNC:30931	protein_coding	YES	CCDS10586.1	ENSP00000327453	Q68CK6		UPI00001AFAA7	NM_001105069.1			10/14		Gene3D:2.30.38.10,Pfam_domain:PF00501,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF188,Superfamily_domains:SSF56801											0,0,1						LOW	1	SNV	1		0,0,1	1										PASS		rs367747928	.												T	2	4	80	20545226	20545226	G	T	1	0	0	0	0	0	0	0	1	226	1103	39	1		1	ACSM2B	16	20545226	Silent	SNP	G	C3N-01488_TP	4788771	20545226	69793119	441	26405											
USP31	0	.	GRCh38	chr16	23085584	23085584	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaactttaaaaatactcaCaaatctcttgtctccttgtc	13	15	2	11	0	3	0	1	0	2	0	6	0	3	0	1	0	2	0	1	0	6	6	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1700+1G>T		p.X567_splice	ENST00000219689		172	151	21	242	242	0	strelka-varscan-mutect	USP31,splice_donor_variant,,ENST00000219689,NM_020718.3;USP31,splice_donor_variant,,ENST00000563525,;	A	ENST00000219689	Transcript	splice_donor_variant	-/10699	1700/4059	567/1352				1		-1	USP31	HGNC	HGNC:20060	protein_coding	YES	CCDS10607.1	ENSP00000219689	Q70CQ4		UPI0000366B06	NM_020718.3				10/15																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	80	23085584	23085584	C	A	1	0	0	0	0	0	0	1	0	17604	492	17	2		2	USP31	16	23085584	Splice_Site	SNP	C	C3N-01488_TP	2540358	23085584	67252761	442	26406											
COG7	0	.	GRCh38	chr16	23442636	23442636	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttagcttggcagaaatcaCagctatgtcctagaaaagac	14	10	9	8	0	1	3	1	0	0	3	2	3	2	3	1	1	2	4	1	1	6	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.445G>C	p.Val149Leu	p.V149L	ENST00000307149	4/17	490	372	118	595	593	2	strelka-varscan-mutect	COG7,missense_variant,p.Val149Leu,ENST00000307149,NM_153603.3;SNORA75,downstream_gene_variant,,ENST00000391291,;CTD-2270L9.2,downstream_gene_variant,,ENST00000561624,;	G	ENST00000307149	Transcript	missense_variant	631/2926	445/2313	149/770	V/L	Gtg/Ctg		1		-1	COG7	HGNC	HGNC:18622	protein_coding	YES	CCDS10610.1	ENSP00000305442	P83436	A0A0S2Z652	UPI0000127E42	NM_153603.3	tolerated(0.37)		4/17		hmmpanther:PTHR21443,Pfam_domain:PF10191																	MODERATE	1	SNV	1			1										PASS		rs1441413236	.												G	3	3	80	23442636	23442636	C	G	1	0	0	0	0	1	0	0	0	3451	478	17	4		4	COG7	16	23442636	Missense_Mutation	SNP	C	C3N-01488_TP	357052	23442636	66895709	443	26407											
CHP2	0	.	GRCh38	chr16	23757201	23757201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcttcactcatctctcagGttctccgtctgatggttggg	4	15	9	13	1	7	1	3	1	4	0	9	1	7	1	2	3	0	2	2	3	0	3	rs35717824		C3N-01488_TP	C3N-01488_NB	G	G																c.415G>T	p.Val139Phe	p.V139F	ENST00000300113	6/7	317	241	76	407	407	0	strelka-varscan-mutect	CHP2,missense_variant,p.Val139Phe,ENST00000300113,NM_022097.3;CTD-2385L22.2,upstream_gene_variant,,ENST00000623305,;	T	ENST00000300113	Transcript	missense_variant,splice_region_variant	838/2382	415/591	139/196	V/F	Gtt/Ttt	rs35717824	1		1	CHP2	HGNC	HGNC:24927	protein_coding	YES	CCDS10617.1	ENSP00000300113	O43745		UPI000013E626	NM_022097.3	deleterious(0)		6/7		PROSITE_profiles:PS50222,hmmpanther:PTHR23056,hmmpanther:PTHR23056:SF49,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		rs1453864245	.												T	3	4	80	23757201	23757201	G	T	1	0	0	0	0	1	0	0	0	3127	1275	44	2		2	CHP2	16	23757201	Missense_Mutation	SNP	G	C3N-01488_TP	314565	23757201	66581144	444	26408											
TNRC6A	0	.	GRCh38	chr16	24789834	24789834	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaatattcagtgcagtactAtaggccagatgcctaacaat	14	12	7	8	0	1	1	1	0	0	1	1	1	1	1	2	1	4	2	2	1	7	7	rs764455500		C3N-01488_TP	C3N-01488_NB	A	A																c.1192A>G	p.Ile398Val	p.I398V	ENST00000395799	6/25	213	194	19	270	270	0	strelka-varscan-mutect	TNRC6A,missense_variant,p.Ile398Val,ENST00000395799,NM_014494.2;TNRC6A,missense_variant,p.Ile398Val,ENST00000315183,;TNRC6A,upstream_gene_variant,,ENST00000450465,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,upstream_gene_variant,,ENST00000568903,;TNRC6A,upstream_gene_variant,,ENST00000567232,;	G	ENST00000395799	Transcript	missense_variant	1321/8438	1192/5889	398/1962	I/V	Ata/Gta	rs764455500,COSM4428425	1		1	TNRC6A	HGNC	HGNC:11969	protein_coding	YES	CCDS10624.2	ENSP00000379144	Q8NDV7		UPI000059D33E	NM_014494.2	tolerated(0.11)		6/25		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs764455500	.												G	3	3	80	24789834	24789834	A	G	1	0	0	0	0	1	0	0	0	16813	449	16	5		5	TNRC6A	16	24789834	Missense_Mutation	SNP	A	C3N-01488_TP	1032633	24789834	65548511	445	26409											
HS3ST4	0	.	GRCh38	chr16	26135901	26135901	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctatgcgctgcatctggaaAactggctccagtatttcccc	8	12	8	13	1	2	0	0	0	2	0	4	1	4	1	3	2	3	4	3	2	4	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1024A>T	p.Asn342Tyr	p.N342Y	ENST00000331351	2/2	465	370	95	535	534	1	strelka-varscan-mutect	HS3ST4,missense_variant,p.Asn342Tyr,ENST00000331351,NM_006040.2;HS3ST4,non_coding_transcript_exon_variant,,ENST00000475436,;	T	ENST00000331351	Transcript	missense_variant	1416/3203	1024/1371	342/456	N/Y	Aac/Tac		1		1	HS3ST4	HGNC	HGNC:5200	protein_coding	YES	CCDS53995.1	ENSP00000330606	Q9Y661		UPI000040938A	NM_006040.2	deleterious(0.02)		2/2		hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF11,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	26135901	26135901	A	T	1	0	0	0	0	1	0	0	0	7261	14	1	4		4	HS3ST4	16	26135901	Missense_Mutation	SNP	A	C3N-01488_TP	1346067	26135901	64202444	446	26410											
IL21R	0	.	GRCh38	chr16	27430079	27430079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggagtcagcatgccgcGtggctgggccgcccccttgc	3	7	16	15	4	1	0	1	0	0	0	1	1	1	1	4	3	3	2	4	3	0	1			C3N-01488_TP	C3N-01488_NB	G	G																c.8G>T	p.Arg3Leu	p.R3L	ENST00000337929	2/9	190	166	24	205	205	0	strelka-varscan-mutect	IL21R,missense_variant,p.Arg3Leu,ENST00000337929,NM_181078.2;IL21R,missense_variant,p.Arg3Leu,ENST00000564089,NM_181079.4;IL21R,missense_variant,p.Arg3Leu,ENST00000395754,NM_021798.3;	T	ENST00000337929	Transcript	missense_variant	481/4849	8/1617	3/538	R/L	cGt/cTt	COSM702831	1		1	IL21R	HGNC	HGNC:6006	protein_coding	YES	CCDS10630.1	ENSP00000338010	Q9HBE5		UPI0000043CF0	NM_181078.2	tolerated_low_confidence(0.09)		2/9		hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF7,Cleavage_site_(Signalp):SignalP-noTM											1						MODERATE	1	SNV	1		1	1										PASS		rs913538510	.												T	3	4	80	27430079	27430079	G	T	1	0	0	0	0	1	0	0	0	7574	1145	40	1		1	IL21R	16	27430079	Missense_Mutation	SNP	G	C3N-01488_TP	1294178	27430079	62908266	447	26411											
GSG1L	0	.	GRCh38	chr16	27828804	27828804	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgacctctcccggaagtacTtgatggcctcagggtctatg	7	11	11	12	1	3	2	1	2	2	0	4	3	3	3	3	3	1	1	3	3	3	3	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.815A>T	p.Lys272Met	p.K272M	ENST00000447459	5/7	121	97	24	133	133	0	varscan-mutect	GSG1L,missense_variant,p.Lys272Met,ENST00000447459,NM_001109763.1;GSG1L,missense_variant,p.Lys221Met,ENST00000395724,;GSG1L,missense_variant,p.Lys117Met,ENST00000380897,NM_144675.2;GSG1L,missense_variant,p.Lys117Met,ENST00000569166,;GSG1L,3_prime_UTR_variant,,ENST00000562611,;	A	ENST00000447459	Transcript	missense_variant	900/4916	815/996	272/331	K/M	aAg/aTg		1		-1	GSG1L	HGNC	HGNC:28283	protein_coding	YES	CCDS45450.1	ENSP00000394954	Q6UXU4		UPI0000EE765B	NM_001109763.1	deleterious(0.02)		5/7		hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF35																	MODERATE	1	SNV	2			1										PASS		rs1336722013	.												A	3	1	80	27828804	27828804	T	A	1	0	0	0	0	1	0	0	0	6704	1609	56	4		4	GSG1L	16	27828804	Missense_Mutation	SNP	T	C3N-01488_TP	398725	27828804	62509541	448	26412											
NFATC2IP	0	.	GRCh38	chr16	28963825	28963825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagctgccagctgacctgGgcatggaatctggggacctc	7	7	16	11	0	1	1	0	1	1	0	2	4	1	4	3	5	3	3	3	5	1	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1222G>T	p.Gly408Cys	p.G408C	ENST00000320805	8/8	175	144	31	237	235	2	strelka-varscan-mutect	NFATC2IP,missense_variant,p.Gly408Cys,ENST00000320805,NM_032815.3;NFATC2IP,missense_variant,p.Gly129Cys,ENST00000564978,;NFATC2IP,missense_variant,p.Gly116Cys,ENST00000568148,;RP11-264B17.2,intron_variant,,ENST00000569974,;NFATC2IP,downstream_gene_variant,,ENST00000562977,;	T	ENST00000320805	Transcript	missense_variant	1297/4569	1222/1260	408/419	G/C	Ggc/Tgc		1		1	NFATC2IP	HGNC	HGNC:25906	protein_coding	YES	CCDS10645.1	ENSP00000324792	Q8NCF5		UPI00000316E2	NM_032815.3	deleterious(0)		8/8		Gene3D:3.10.20.90,Pfam_domain:PF11976,PROSITE_profiles:PS50053,hmmpanther:PTHR10562,hmmpanther:PTHR10562:SF28,SMART_domains:SM00213,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	28963825	28963825	G	T	1	0	0	0	0	1	0	0	0	10400	1232	43	2		2	NFATC2IP	16	28963825	Missense_Mutation	SNP	G	C3N-01488_TP	1135021	28963825	61374520	449	26413											
PRRT2	0	.	GRCh38	chr16	29813694	29813694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatcccccccagccaatgggGcccccccccgagtgctgcag	7	4	10	20	1	0	0	0	0	0	0	1	1	1	0	8	2	3	2	8	2	2	0	rs745594874		C3N-01488_TP	C3N-01488_NB	G	G																c.640G>C	p.Ala214Pro	p.A214P	ENST00000567659	2/3	55	48	7	96	95	1	strelka-varscan-mutect	PRRT2,missense_variant,p.Ala214Pro,ENST00000300797,NM_001256443.1;PRRT2,missense_variant,p.Ala214Pro,ENST00000358758,NM_145239.2;PRRT2,missense_variant,p.Ala214Pro,ENST00000572820,;PRRT2,missense_variant,p.Ala214Pro,ENST00000637064,;PRRT2,missense_variant,p.Ala214Pro,ENST00000636619,;PRRT2,missense_variant,p.Ala214Pro,ENST00000637403,;PRRT2,missense_variant,p.Ala214Pro,ENST00000567659,NM_001256442.1;PRRT2,intron_variant,,ENST00000637565,;PRRT2,intron_variant,,ENST00000567551,;MAZ,downstream_gene_variant,,ENST00000219782,NM_001042539.2;MAZ,downstream_gene_variant,,ENST00000322945,NM_002383.3;MAZ,downstream_gene_variant,,ENST00000545521,NM_001276275.1;PAGR1,upstream_gene_variant,,ENST00000320330,NM_024516.3;MAZ,downstream_gene_variant,,ENST00000568282,;MAZ,downstream_gene_variant,,ENST00000562337,NM_001276276.1;MAZ,downstream_gene_variant,,ENST00000568544,;MAZ,downstream_gene_variant,,ENST00000563402,;MAZ,downstream_gene_variant,,ENST00000566906,;MAZ,downstream_gene_variant,,ENST00000616501,;MAZ,downstream_gene_variant,,ENST00000563012,;MAZ,downstream_gene_variant,,ENST00000567444,;MAZ,downstream_gene_variant,,ENST00000568411,;MAZ,downstream_gene_variant,,ENST00000569978,;PRRT2,downstream_gene_variant,,ENST00000562148,;PRRT2,downstream_gene_variant,,ENST00000637596,;PRRT2,downstream_gene_variant,,ENST00000636246,;MAZ,downstream_gene_variant,,ENST00000562557,;PRRT2,upstream_gene_variant,,ENST00000636902,;AC009133.12,intron_variant,,ENST00000569039,;AC009133.12,upstream_gene_variant,,ENST00000569981,;AC009133.12,downstream_gene_variant,,ENST00000569809,;AC009133.12,upstream_gene_variant,,ENST00000563806,;PRRT2,non_coding_transcript_exon_variant,,ENST00000636019,;PRRT2,downstream_gene_variant,,ENST00000568516,;AC009133.24,downstream_gene_variant,,ENST00000562594,;PRRT2,downstream_gene_variant,,ENST00000636001,;PRRT2,upstream_gene_variant,,ENST00000637425,;PRRT2,downstream_gene_variant,,ENST00000637542,;PRRT2,missense_variant,p.Ala214Pro,ENST00000636131,;AC009133.23,missense_variant,p.Ala214Pro,ENST00000609618,;PRRT2,synonymous_variant,p.=,ENST00000637290,;MAZ,downstream_gene_variant,,ENST00000565777,;MAZ,downstream_gene_variant,,ENST00000561855,;CTD-2574D22.6,upstream_gene_variant,,ENST00000562285,;	C	ENST00000567659	Transcript	missense_variant	838/1470	640/1185	214/394	A/P	Gcc/Ccc	rs745594874,COSM5447947	1		1	PRRT2	HGNC	HGNC:30500	protein_coding	YES	CCDS58445.1	ENSP00000456226	Q7Z6L0		UPI00000712B6	NM_001256442.1	deleterious_low_confidence(0)		2/3		hmmpanther:PTHR14948,hmmpanther:PTHR14948:SF20,Low_complexity_(Seg):seg										uncertain_significance	0,1						MODERATE		SNV	2		1,1	1										PASS		rs772994486	.												C	3	2	80	29813694	29813694	G	C	1	0	0	0	0	1	0	0	0	12756	1203	42	4		4	PRRT2	16	29813694	Missense_Mutation	SNP	G	C3N-01488_TP	849869	29813694	60524651	450	26414											
ZNF768	0	.	GRCh38	chr16	30524961	30524961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctctgaccggtgtgcacCctctgatggctgcgcaggga	5	8	15	13	2	2	2	0	2	2	0	2	3	2	3	3	4	2	3	3	4	0	0	rs780124084		C3N-01488_TP	C3N-01488_NB	C	C																c.1179G>T	p.Arg393Ser	p.R393S	ENST00000380412	2/2	358	288	70	425	425	0	strelka-varscan-mutect	ZNF768,missense_variant,p.Arg393Ser,ENST00000380412,NM_024671.3;ZNF768,missense_variant,p.Arg362Ser,ENST00000562803,;ITGAL,downstream_gene_variant,,ENST00000356798,NM_002209.2;ITGAL,downstream_gene_variant,,ENST00000358164,NM_001114380.1;ITGAL,downstream_gene_variant,,ENST00000433423,;AC002310.14,upstream_gene_variant,,ENST00000624451,;AC002310.11,downstream_gene_variant,,ENST00000569360,;ITGAL,downstream_gene_variant,,ENST00000564632,;	A	ENST00000380412	Transcript	missense_variant	1355/2315	1179/1623	393/540	R/S	agG/agT	rs780124084	1		-1	ZNF768	HGNC	HGNC:26273	protein_coding	YES	CCDS10681.2	ENSP00000369777	Q9H5H4	A0A024QZC8	UPI00001FFEED	NM_024671.3	deleterious_low_confidence(0.02)		2/2		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF208,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs780124084	.												A	3	1	80	30524961	30524961	C	A	1	0	0	0	0	1	0	0	0	18724	622	22	2		2	ZNF768	16	30524961	Missense_Mutation	SNP	C	C3N-01488_TP	711267	30524961	59813384	451	26415											
FBRS	0	.	GRCh38	chr16	30669368	30669368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctggttggcagcaccccCacgcctggcaaggccacccc	8	4	10	19	1	0	0	0	0	0	0	0	0	0	0	7	4	2	4	7	4	2	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1106C>T	p.Pro369Leu	p.P369L	ENST00000287468	12/12	398	291	107	384	384	0	strelka-varscan-mutect	FBRS,missense_variant,p.Pro889Leu,ENST00000356166,;FBRS,missense_variant,p.Pro369Leu,ENST00000287468,NM_001105079.1;FBRS,downstream_gene_variant,,ENST00000482749,;FBRS,3_prime_UTR_variant,,ENST00000543786,;FBRS,non_coding_transcript_exon_variant,,ENST00000494101,;FBRS,downstream_gene_variant,,ENST00000570170,;	T	ENST00000287468	Transcript	missense_variant	1369/2811	1106/1383	369/460	P/L	cCa/cTa		1		1	FBRS	HGNC	HGNC:20442	protein_coding	YES	CCDS45462.1	ENSP00000287468	Q9HAH7		UPI000059D366	NM_001105079.1	tolerated(0.11)		12/12		Low_complexity_(Seg):seg,hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF24																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	30669368	30669368	C	T	1	0	0	0	0	1	0	0	0	5570	594	21	3		3	FBRS	16	30669368	Missense_Mutation	SNP	C	C3N-01488_TP	144407	30669368	59668977	452	26416											
AC007906.1	0	.	GRCh38	chr16	53209657	53209657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaaaggagcgtggggaacGcaatattccacgagtaatga	15	6	13	7	3	0	1	0	1	0	0	1	4	1	3	1	3	3	3	1	3	5	3	rs777290043		C3N-01488_TP	C3N-01488_NB	G	G																c.1628G>T	p.Arg543Leu	p.R543L	ENST00000447540	3/39	365	289	76	492	492	0	strelka-varscan-mutect	CHD9,missense_variant,p.Arg543Leu,ENST00000566029,NM_025134.4;CHD9,missense_variant,p.Arg543Leu,ENST00000447540,NM_001308319.1;CHD9,missense_variant,p.Arg543Leu,ENST00000564845,;CHD9,missense_variant,p.Arg543Leu,ENST00000398510,;CHD9,missense_variant,p.Arg69Leu,ENST00000565803,;CHD9,missense_variant,p.Arg543Leu,ENST00000565832,;AC007906.1,missense_variant,p.Arg56Ser,ENST00000624244,;CHD9,missense_variant,p.Arg36Leu,ENST00000565442,;CHD9,5_prime_UTR_variant,,ENST00000615216,;CHD9,intron_variant,,ENST00000622617,;CHD9,intron_variant,,ENST00000569794,;CHD9,upstream_gene_variant,,ENST00000562791,;CHD9,non_coding_transcript_exon_variant,,ENST00000564255,;	T	ENST00000447540	Transcript	missense_variant	1837/11509	1628/8694	543/2897	R/L	cGc/cTc	rs777290043,COSM4672107	1		1	CHD9	HGNC	HGNC:25701	protein_coding	YES	CCDS76865.1	ENSP00000396345	Q3L8U1		UPI0000E02AC8	NM_001308319.1	deleterious(0.04)		3/39													0,1						MODERATE		SNV	5		0,1	1										PASS		rs777290043	.												T	3	4	80	53209657	53209657	G	T	1	0	0	0	0	1	0	0	0	117	1087	38	1		1	AC007906.1	16	53209657	Missense_Mutation	SNP	G	C3N-01488_TP	22540289	53209657	37128688	453	26417											
CES5A	0	.	GRCh38	chr16	55859571	55859571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaggaagccacactcGtggttattgactccgatgat	10	9	12	10	2	0	2	0	2	0	0	2	4	1	3	2	3	2	3	2	3	2	2	rs11860946		C3N-01488_TP	C3N-01488_NB	G	G																c.1119C>A	p.His373Gln	p.H373Q	ENST00000521992	9/14	124	87	37	179	178	1	strelka-varscan-mutect	CES5A,missense_variant,p.His373Gln,ENST00000521992,NM_001190158.1;CES5A,missense_variant,p.His238Gln,ENST00000518005,;CES5A,missense_variant,p.His344Gln,ENST00000290567,NM_001143685.1;CES5A,missense_variant,p.His344Gln,ENST00000319165,NM_145024.2;CES5A,missense_variant,p.His314Gln,ENST00000520435,;CES5A,missense_variant,p.His125Gln,ENST00000541580,;CES5A,non_coding_transcript_exon_variant,,ENST00000544479,;CES5A,3_prime_UTR_variant,,ENST00000521228,;	T	ENST00000521992	Transcript	missense_variant	1265/2258	1119/1815	373/604	H/Q	caC/caA	rs11860946	1		-1	CES5A	HGNC	HGNC:26459	protein_coding	YES	CCDS54012.1	ENSP00000428864	Q6NT32		UPI0001914B41	NM_001190158.1	tolerated(0.46)		9/14		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF43,Superfamily_domains:SSF53474																	MODERATE	1	SNV	2			1										PASS		rs11860946	.												T	3	4	80	55859571	55859571	G	T	1	0	0	0	0	1	0	0	0	3005	1136	40	1		1	CES5A	16	55859571	Missense_Mutation	SNP	G	C3N-01488_TP	2649914	55859571	34478774	454	26418											
RP11-457D20.2	0	.	GRCh38	chr16	60359157	60359157	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcctagaggtggaggccgcTtccccattgctacaggggcc	6	7	15	13	1	0	1	0	0	0	1	1	2	1	2	5	6	2	2	5	6	2	4	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.324A>T	p.Glu108Asp	p.E108D	ENST00000614215	1/1	100	70	30	130	130	0	strelka-varscan-mutect	RP11-457D20.2,missense_variant,p.Glu108Asp,ENST00000614215,NM_001282301.1;RP11-354I13.2,upstream_gene_variant,,ENST00000565506,;RP11-354I13.2,upstream_gene_variant,,ENST00000565133,;RP11-457D20.1,downstream_gene_variant,,ENST00000563482,;	A	ENST00000614215	Transcript	missense_variant	324/1026	324/1026	108/341	E/D	gaA/gaT		1		-1	RP11-457D20.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000482925	A8MU76		UPI00017616FE	NM_001282301.1	tolerated(0.61)		1/1		Pfam_domain:PF15229																	MODERATE		SNV				1										PASS		.	.												A	3	1	80	60359157	60359157	T	A	1	0	0	0	0	1	0	0	0	13744	1606	56	4		4	RP11-457D20.2	16	60359157	Missense_Mutation	SNP	T	C3N-01488_TP	4499586	60359157	29979188	455	26419											
CDH16	0	.	GRCh38	chr16	66910449	66910449	+	Missense_Mutation	SNP	G	G	T																															agtcagggctggggcaggagGggcctttaggaagtggatca																								rs781673253		C3N-01488_TP	C3N-01488_NB	G	G																c.1978C>A	p.Pro660Thr	p.P660T	ENST00000299752	15/18	30	25	5	45	45	0	strelka-varscan-mutect	CDH16,missense_variant,p.Pro660Thr,ENST00000299752,NM_004062.3;CDH16,missense_variant,p.Pro580Thr,ENST00000570262,;CDH16,missense_variant,p.Pro563Thr,ENST00000568632,NM_001204746.1;CDH16,intron_variant,,ENST00000394055,NM_001204744.1;CDH16,intron_variant,,ENST00000565796,NM_001204745.1;CDH16,downstream_gene_variant,,ENST00000567009,;CDH16,downstream_gene_variant,,ENST00000565235,;CDH16,3_prime_UTR_variant,,ENST00000567269,;CDH16,3_prime_UTR_variant,,ENST00000568698,;	T	ENST00000299752	Transcript	missense_variant	2172/2954	1978/2490	660/829	P/T	Cct/Act	rs781673253	1		-1	CDH16	HGNC	HGNC:1755	protein_coding	YES	CCDS10823.1	ENSP00000299752	O75309		UPI0000126DB1	NM_004062.3	tolerated(1)		15/18		Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF1,hmmpanther:PTHR24028,SMART_domains:SM00112																	MODERATE	1	SNV	1			1										PASS		rs781673253	.												T	3	4	80	66910449	66910449	G	T	1	0	0	0	0	1	0	0	0	2804	1232	43	2		2	CDH16	16	66910449	Missense_Mutation	SNP	G	C3N-01488_TP	6551292	66910449	23427896	456	26420	562	2									
CDH16	0	.	GRCh38	chr16	66910450	66910450	+	Silent	SNP	G	G	T																															gtcagggctggggcaggaggGgcctttaggaagtggatcac																								novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1977C>A	p.=	p.A659A	ENST00000299752	15/18	30	25	5	44	44	0	strelka-varscan-mutect	CDH16,synonymous_variant,p.=,ENST00000299752,NM_004062.3;CDH16,synonymous_variant,p.=,ENST00000570262,;CDH16,synonymous_variant,p.=,ENST00000568632,NM_001204746.1;CDH16,intron_variant,,ENST00000394055,NM_001204744.1;CDH16,intron_variant,,ENST00000565796,NM_001204745.1;CDH16,downstream_gene_variant,,ENST00000567009,;CDH16,downstream_gene_variant,,ENST00000565235,;CDH16,3_prime_UTR_variant,,ENST00000567269,;CDH16,3_prime_UTR_variant,,ENST00000568698,;	T	ENST00000299752	Transcript	synonymous_variant	2171/2954	1977/2490	659/829	A	gcC/gcA		1		-1	CDH16	HGNC	HGNC:1755	protein_coding	YES	CCDS10823.1	ENSP00000299752	O75309		UPI0000126DB1	NM_004062.3			15/18		Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF1,hmmpanther:PTHR24028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	80	66910450	66910450	G	T	1	0	0	0	0	0	0	0	1	2804	1219	43	2		2	CDH16	16	66910450	Silent	SNP	G	C3N-01488_TP	1	66910450	23427895	457	26421	562	2									
FUK	0	.	GRCh38	chr16	70463707	70463707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagaagcgtgtgggcaGcggaggagccaccctcaacg	10	3	15	13	3	1	1	1	0	0	1	1	4	1	3	3	3	4	1	3	3	2	0			C3N-01488_TP	C3N-01488_NB	G	G																c.167G>T	p.Ser56Ile	p.S56I	ENST00000288078	3/24	211	174	37	249	249	0	strelka-varscan-mutect	FUK,missense_variant,p.Ser56Ile,ENST00000288078,NM_145059.2;FUK,missense_variant,p.Ser56Ile,ENST00000378912,;FUK,missense_variant,p.Ser56Ile,ENST00000574784,;FUK,missense_variant,p.Ser56Ile,ENST00000573352,;FUK,missense_variant,p.Ser56Ile,ENST00000576453,;FUK,missense_variant,p.Ser56Ile,ENST00000572784,;FUK,intron_variant,,ENST00000571514,;FUK,non_coding_transcript_exon_variant,,ENST00000464499,;FUK,non_coding_transcript_exon_variant,,ENST00000571487,;FUK,non_coding_transcript_exon_variant,,ENST00000576107,;	T	ENST00000288078	Transcript	missense_variant	399/4081	167/3255	56/1084	S/I	aGc/aTc	COSM4798265,COSM4798266,COSM4798267	1		1	FUK	HGNC	HGNC:29500	protein_coding	YES	CCDS10891.2	ENSP00000288078	Q8N0W3		UPI000013DEF1	NM_145059.2	deleterious(0)		3/24		hmmpanther:PTHR32463											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	80	70463707	70463707	G	T	1	0	0	0	0	1	0	0	0	5967	971	34	2		2	FUK	16	70463707	Missense_Mutation	SNP	G	C3N-01488_TP	3553257	70463707	19874638	458	26422											
KLHL36	0	.	GRCh38	chr16	84661726	84661727	+	Frame_Shift_Del	DEL	GC	GC	-																															agcggcggcccatgaccacgGcgcgcggctggcacagcatg																										C3N-01488_TP	C3N-01488_NB	GC	GC																c.1449_1450delCG	p.Gly484LeufsTer9	p.G484Lfs*9	ENST00000564996	5/5	129	109	20	136	136	0	sindel-varindel-pindel	KLHL36,frameshift_variant,p.Gly484LeufsTer9,ENST00000564996,NM_024731.3;KLHL36,frameshift_variant,p.Gly421LeufsTer9,ENST00000258157,NM_001303451.1;KLHL36,downstream_gene_variant,,ENST00000567410,;KLHL36,downstream_gene_variant,,ENST00000565743,;KLHL36,downstream_gene_variant,,ENST00000569472,;KLHL36,non_coding_transcript_exon_variant,,ENST00000325279,;KLHL36,non_coding_transcript_exon_variant,,ENST00000564159,;	-	ENST00000564996	Transcript	frameshift_variant	1585-1586/2173	1444-1445/1851	482/616	A/X	GCg/g	COSM391738	1		1	KLHL36	HGNC	HGNC:17844	protein_coding	YES	CCDS10948.1	ENSP00000456743	Q8N4N3		UPI000006F9CF	NM_024731.3			5/5		Superfamily_domains:0052715,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF246,SMART_domains:SM00612											1						HIGH	1	deletion	1	5	1	1										PASS		.	.												-	7	5	80	84661726	84661726	GC	-	1	0	1	0	1	0	0	0	0	8255	1203	42	0		0	KLHL36	16	84661726	Frame_Shift_Del	DEL	GC	C3N-01488_TP	14198019	84661726	5676619	459	26423											
BANP	0	.	GRCh38	chr16	88037996	88037996	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctccagatccatcacgtGgggcaggacggtcaggtgag	10	6	14	11	2	2	2	2	1	0	1	4	3	4	3	3	5	1	1	3	5	1	0	rs772483207		C3N-01488_TP	C3N-01488_NB	G	G																c.1263G>T	p.=	p.V421V	ENST00000393207	11/14	273	224	49	386	386	0	strelka-varscan-mutect	BANP,synonymous_variant,p.=,ENST00000393207,NM_001173543.1;BANP,synonymous_variant,p.=,ENST00000538234,NM_001173539.1,NM_001173542.1;BANP,synonymous_variant,p.=,ENST00000286122,;BANP,synonymous_variant,p.=,ENST00000393208,NM_079837.2;BANP,synonymous_variant,p.=,ENST00000355022,NM_017869.3;BANP,synonymous_variant,p.=,ENST00000626016,NM_001173540.1;BANP,synonymous_variant,p.=,ENST00000479780,NM_001173541.1;BANP,downstream_gene_variant,,ENST00000497491,;BANP,non_coding_transcript_exon_variant,,ENST00000565242,;BANP,non_coding_transcript_exon_variant,,ENST00000466847,;	T	ENST00000393207	Transcript	synonymous_variant	1484/2438	1263/1560	421/519	V	gtG/gtT	rs772483207	1		1	BANP	HGNC	HGNC:13450	protein_coding	YES	CCDS54054.1	ENSP00000376902	Q8N9N5		UPI0000E59DA3	NM_001173543.1			11/14		hmmpanther:PTHR16243																	LOW	1	SNV	2			1										PASS		rs772483207	.												T	2	4	80	88037996	88037996	G	T	1	0	0	0	0	0	0	0	1	1462	1335	47	2		2	BANP	16	88037996	Silent	SNP	G	C3N-01488_TP	3376270	88037996	2300349	460	26424											
FAM57A	0	.	GRCh38	chr17	732683	732683	+	Missense_Mutation	SNP	C	C	A																															gccgggggcgcgctcttcttCccggggctcttcgcgctctg																								novel		C3N-01488_TP	C3N-01488_NB	C	C																c.36C>A	p.Phe12Leu	p.F12L	ENST00000308278	1/5	72	67	5	90	90	0	varscan-mutect	FAM57A,missense_variant,p.Phe12Leu,ENST00000308278,NM_024792.1;FAM57A,missense_variant,p.Phe12Leu,ENST00000301324,NM_001318006.1;FAM57A,missense_variant,p.Phe12Leu,ENST00000572018,;FAM57A,upstream_gene_variant,,ENST00000577008,;FAM57A,missense_variant,p.Phe12Leu,ENST00000574327,;FAM57A,5_prime_UTR_variant,,ENST00000570699,;	A	ENST00000308278	Transcript	missense_variant	272/2412	36/774	12/257	F/L	ttC/ttA		1		1	FAM57A	HGNC	HGNC:29646	protein_coding	YES	CCDS10996.1	ENSP00000312017	Q8TBR7		UPI000006F9B9	NM_024792.1	deleterious(0)		1/5		hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF20,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	732683	732683	C	A	1	0	0	0	0	1	0	0	0	5458	854	30	2		2	FAM57A	17	732683	Missense_Mutation	SNP	C	C3N-01488_TP		732683	82524758	461	26425	563	2									
FAM57A	0	.	GRCh38	chr17	732684	732684	+	Missense_Mutation	SNP	C	C	A																															ccgggggcgcgctcttcttcCcggggctcttcgcgctctgc																								novel		C3N-01488_TP	C3N-01488_NB	C	C																c.37C>A	p.Pro13Thr	p.P13T	ENST00000308278	1/5	78	73	5	99	99	0	strelka-varscan-mutect	FAM57A,missense_variant,p.Pro13Thr,ENST00000308278,NM_024792.1;FAM57A,missense_variant,p.Pro13Thr,ENST00000301324,NM_001318006.1;FAM57A,missense_variant,p.Pro13Thr,ENST00000572018,;FAM57A,upstream_gene_variant,,ENST00000577008,;FAM57A,missense_variant,p.Pro13Thr,ENST00000574327,;FAM57A,5_prime_UTR_variant,,ENST00000570699,;	A	ENST00000308278	Transcript	missense_variant	273/2412	37/774	13/257	P/T	Ccg/Acg		1		1	FAM57A	HGNC	HGNC:29646	protein_coding	YES	CCDS10996.1	ENSP00000312017	Q8TBR7		UPI000006F9B9	NM_024792.1	deleterious(0)		1/5		hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF20,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	732684	732684	C	A	1	0	0	0	0	1	0	0	0	5458	623	22	2		2	FAM57A	17	732684	Missense_Mutation	SNP	C	C3N-01488_TP	1	732684	82524757	462	26426	563	2									
FAM57A	0	.	GRCh38	chr17	737960	737960	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccagaaccgtgcgccctcCctcactcttcgaaacttcct	8	9	6	18	3	2	1	1	0	1	1	5	3	4	1	5	0	3	0	5	0	2	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.321C>A	p.=	p.S107S	ENST00000308278	3/5	400	308	92	559	559	0	strelka-varscan-mutect	FAM57A,synonymous_variant,p.=,ENST00000308278,NM_024792.1;FAM57A,synonymous_variant,p.=,ENST00000301324,NM_001318006.1;FAM57A,intron_variant,,ENST00000577008,;FAM57A,intron_variant,,ENST00000572018,;FAM57A,upstream_gene_variant,,ENST00000570892,;FAM57A,3_prime_UTR_variant,,ENST00000570699,;FAM57A,intron_variant,,ENST00000574327,;	A	ENST00000308278	Transcript	synonymous_variant	557/2412	321/774	107/257	S	tcC/tcA		1		1	FAM57A	HGNC	HGNC:29646	protein_coding	YES	CCDS10996.1	ENSP00000312017	Q8TBR7		UPI000006F9B9	NM_024792.1			3/5		Pfam_domain:PF03798,PROSITE_profiles:PS50922,hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF20,SMART_domains:SM00724																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	80	737960	737960	C	A	1	0	0	0	0	0	0	0	1	5458	610	22	2		2	FAM57A	17	737960	Silent	SNP	C	C3N-01488_TP	5276	737960	82519481	463	26427											
CLUH	0	.	GRCh38	chr17	2698373	2698373	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtccaccgcgttgtacgtgCggacgccattcaggtcgttg	5	10	13	13	7	1	0	1	0	0	0	3	1	2	1	3	2	2	3	3	2	1	4	rs748257674		C3N-01488_TP	C3N-01488_NB	C	C																c.1370G>T	p.Arg457Leu	p.R457L	ENST00000570628	10/26	150	118	32	219	218	1	strelka-varscan-mutect	CLUH,missense_variant,p.Arg457Leu,ENST00000570628,;CLUH,missense_variant,p.Arg457Leu,ENST00000435359,NM_015229.3;CLUH,missense_variant,p.Arg398Leu,ENST00000575014,;CLUH,missense_variant,p.Arg495Leu,ENST00000574426,;CLUH,downstream_gene_variant,,ENST00000576885,;CLUH,downstream_gene_variant,,ENST00000572129,;CLUH,upstream_gene_variant,,ENST00000574210,;CLUH,upstream_gene_variant,,ENST00000575624,;CLUH,upstream_gene_variant,,ENST00000574166,;CLUH,upstream_gene_variant,,ENST00000573641,;CLUH,upstream_gene_variant,,ENST00000572014,;CLUH,downstream_gene_variant,,ENST00000571539,;	A	ENST00000570628	Transcript	missense_variant	1476/5244	1370/3930	457/1309	R/L	cGc/cTc	rs748257674	1		-1	CLUH	HGNC	HGNC:29094	protein_coding	YES	CCDS45572.1	ENSP00000458986	O75153		UPI00004C8042		deleterious(0)		10/26		HAMAP:MF_03013,Pfam_domain:PF13236,hmmpanther:PTHR12601,hmmpanther:PTHR12601:SF10																	MODERATE	1	SNV	2			1										PASS		rs748257674	.												A	3	1	80	2698373	2698373	C	A	1	0	0	0	0	1	0	0	0	3342	768	27	1		1	CLUH	17	2698373	Missense_Mutation	SNP	C	C3N-01488_TP	1960413	2698373	80559068	464	26428											
TMEM256	0	.	GRCh38	chr17	7403326	7403326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacccagagtggctttctgCaatggggcacccctaacagg	9	9	11	12	0	1	1	0	0	1	1	1	1	1	1	3	4	3	3	3	4	3	3	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.182G>T	p.Cys61Phe	p.C61F	ENST00000302422	3/4	265	239	26	338	338	0	strelka-varscan-mutect	TMEM256,missense_variant,p.Cys61Phe,ENST00000302422,NM_152766.3;TMEM256,3_prime_UTR_variant,,ENST00000576017,;NLGN2,upstream_gene_variant,,ENST00000302926,NM_020795.3;NLGN2,upstream_gene_variant,,ENST00000575301,;NLGN2,upstream_gene_variant,,ENST00000572893,;TMEM256-PLSCR3,missense_variant,p.Cys61Phe,ENST00000573331,;TMEM256-PLSCR3,missense_variant,p.Cys21Phe,ENST00000571125,;TMEM256-PLSCR3,missense_variant,p.Cys61Phe,ENST00000570569,;TMEM256,non_coding_transcript_exon_variant,,ENST00000575427,;TMEM256-PLSCR3,intron_variant,,ENST00000570600,;	A	ENST00000302422	Transcript	missense_variant	235/486	182/342	61/113	C/F	tGc/tTc		1		-1	TMEM256	HGNC	HGNC:28618	protein_coding	YES	CCDS11102.1	ENSP00000301939	Q8N2U0		UPI0000049DA7	NM_152766.3	deleterious(0)		3/4		Pfam_domain:PF04241,hmmpanther:PTHR10584																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	7403326	7403326	C	A	1	0	0	0	0	1	0	0	0	16616	710	25	2		2	TMEM256	17	7403326	Missense_Mutation	SNP	C	C3N-01488_TP	4704953	7403326	75854115	465	26429											
NTN1	0	.	GRCh38	chr17	9022585	9022585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgcgtgtccagcacctgcgGccggcccccggcgcgctact	3	5	14	19	7	0	0	0	0	0	0	1	0	1	0	5	3	3	2	5	3	1	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.212G>T	p.Gly71Val	p.G71V	ENST00000173229	2/7	83	69	14	104	104	0	strelka-varscan-mutect	NTN1,missense_variant,p.Gly71Val,ENST00000173229,NM_004822.2;	T	ENST00000173229	Transcript	missense_variant	319/5954	212/1815	71/604	G/V	gGc/gTc		1		1	NTN1	HGNC	HGNC:8029	protein_coding	YES	CCDS11148.1	ENSP00000173229	O95631		UPI000013C5C7	NM_004822.2	deleterious(0)		2/7		PROSITE_profiles:PS51117,hmmpanther:PTHR10574:SF278,hmmpanther:PTHR10574,Pfam_domain:PF00055,SMART_domains:SM00136																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	9022585	9022585	G	T	1	0	0	0	0	1	0	0	0	10765	1203	42	2		2	NTN1	17	9022585	Missense_Mutation	SNP	G	C3N-01488_TP	1619259	9022585	74234856	466	26430											
MYH8	0	.	GRCh38	chr17	10393110	10393110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggccttcttggctttcTcttctgcattgcgtgattct	3	19	9	10	1	4	2	0	2	4	0	5	2	4	2	1	2	2	2	1	2	0	6	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.5267A>G	p.Glu1756Gly	p.E1756G	ENST00000403437	36/40	405	369	36	609	609	0	strelka-varscan-mutect	MYH8,missense_variant,p.Glu1756Gly,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	C	ENST00000403437	Transcript	missense_variant	5362/6041	5267/5814	1756/1937	E/G	gAg/gGg		1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2	deleterious(0)		36/40		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF368,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF57997																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	80	10393110	10393110	T	C	1	0	0	0	0	1	0	0	0	10041	1551	54	5		5	MYH8	17	10393110	Missense_Mutation	SNP	T	C3N-01488_TP	1370525	10393110	72864331	467	26431											
MYH8	0	.	GRCh38	chr17	10396988	10396988	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgggccaactttttccTgaaaagttagccaggcagtc	9	10	11	11	1	0	1	0	1	0	0	2	1	1	1	3	2	2	3	3	2	4	3	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.4179-2A>T		p.X1393_splice	ENST00000403437		280	253	27	414	414	0	strelka-varscan-mutect	MYH8,splice_acceptor_variant,,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000403437	Transcript	splice_acceptor_variant	-/6041	4179/5814	1393/1937				1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2				30/39																		HIGH		SNV	5			1										PASS		.	.												A	5	1	80	10396988	10396988	T	A	1	0	0	0	0	0	0	1	0	10041	1594	55	4		4	MYH8	17	10396988	Splice_Site	SNP	T	C3N-01488_TP	3878	10396988	72860453	468	26432											
MYH4	0	.	GRCh38	chr17	10450564	10450564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctctgcagctcagccttgGcttcctgctcctcctcatac	4	12	6	19	0	3	0	2	0	1	0	6	0	6	0	5	1	5	4	5	1	1	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.4070C>A	p.Ala1357Asp	p.A1357D	ENST00000255381	30/40	240	200	40	335	335	0	strelka-varscan-mutect	MYH4,missense_variant,p.Ala1357Asp,ENST00000255381,NM_017533.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000255381	Transcript	missense_variant	4181/6016	4070/5820	1357/1939	A/D	gCc/gAc		1		-1	MYH4	HGNC	HGNC:7574	protein_coding	YES	CCDS11154.1	ENSP00000255381	Q9Y623		UPI000013CEAB	NM_017533.2	deleterious(0.01)		30/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1208775437	.												T	3	4	80	10450564	10450564	G	T	1	0	0	0	0	1	0	0	0	10037	1203	42	2		2	MYH4	17	10450564	Missense_Mutation	SNP	G	C3N-01488_TP	53576	10450564	72806877	469	26433											
MYH1	0	.	GRCh38	chr17	10496414	10496414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctctgcatggactccaCgattctaatgtggtttctct	6	16	9	10	1	3	0	0	0	3	0	5	2	4	1	1	2	2	3	1	2	1	3	rs150456818		C3N-01488_TP	C3N-01488_NB	C	C																c.4792G>T	p.Val1598Leu	p.V1598L	ENST00000226207	34/40	409	332	77	684	683	1	strelka-varscan-mutect	MYH1,missense_variant,p.Val1598Leu,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000226207	Transcript	missense_variant	4887/6024	4792/5820	1598/1939	V/L	Gtg/Ttg	rs150456818,COSM33235,COSM4579422	1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3	tolerated(0.35)		34/40		Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF454											0,1,1						MODERATE		SNV	5		0,1,1	1										PASS		rs150456818	.												A	3	1	80	10496414	10496414	C	A	1	0	0	0	0	1	0	0	0	10029	536	19	1		1	MYH1	17	10496414	Missense_Mutation	SNP	C	C3N-01488_TP	45850	10496414	72761027	470	26434											
MYH1	0	.	GRCh38	chr17	10501901	10501901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcttttcttgttccaaaGatccttcaagctaaaagtta	11	18	4	8	0	3	1	1	0	2	1	5	1	5	1	2	0	1	3	2	0	5	9	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.3122C>T	p.Ser1041Phe	p.S1041F	ENST00000226207	25/40	98	91	7	184	184	0	strelka-varscan-mutect	MYH1,missense_variant,p.Ser1041Phe,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000226207	Transcript	missense_variant	3217/6024	3122/5820	1041/1939	S/F	tCt/tTt		1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3	deleterious(0)		25/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF454,Superfamily_domains:SSF90257																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	80	10501901	10501901	G	A	1	0	0	0	0	1	0	0	0	10029	942	33	3		3	MYH1	17	10501901	Missense_Mutation	SNP	G	C3N-01488_TP	5487	10501901	72755540	471	26435											
DNAH9	0	.	GRCh38	chr17	11690333	11690333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagaagaagctgtccaCagtggacgctgtcatctcta	10	9	11	11	1	2	2	1	0	1	2	4	3	3	3	1	2	1	3	1	2	3	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.4511C>A	p.Thr1504Lys	p.T1504K	ENST00000262442	20/69	314	275	39	515	515	0	strelka-varscan-mutect	DNAH9,missense_variant,p.Thr1504Lys,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Thr1504Lys,ENST00000454412,;	A	ENST00000262442	Transcript	missense_variant	4579/13750	4511/13461	1504/4486	T/K	aCa/aAa		1		1	DNAH9	HGNC	HGNC:2953	protein_coding	YES	CCDS11160.1	ENSP00000262442	Q9NYC9		UPI0000141BA2	NM_001372.3	tolerated(0.07)		20/69		Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	11690333	11690333	C	A	1	0	0	0	0	1	0	0	0	4423	478	17	2		2	DNAH9	17	11690333	Missense_Mutation	SNP	C	C3N-01488_TP	1188432	11690333	71567108	472	26436											
MFAP4	0	.	GRCh38	chr17	19385420	19385420	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcattccagccgcggaagAaacttactgagccattgaat	13	9	9	10	2	1	3	1	2	0	1	2	4	2	4	3	1	4	0	3	1	4	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.347T>C	p.Phe116Ser	p.F116S	ENST00000395592	4/6	332	283	49	448	448	0	strelka-varscan-mutect	MFAP4,missense_variant,p.Phe116Ser,ENST00000395592,NM_001198695.1;MFAP4,missense_variant,p.Phe117Ser,ENST00000497081,;MFAP4,missense_variant,p.Phe92Ser,ENST00000299610,NM_002404.2;MAPK7,downstream_gene_variant,,ENST00000308406,NM_139033.2;MAPK7,downstream_gene_variant,,ENST00000395604,NM_002749.3;MAPK7,downstream_gene_variant,,ENST00000395602,NM_139034.2;MAPK7,downstream_gene_variant,,ENST00000299612,NM_139032.2;MAPK7,downstream_gene_variant,,ENST00000443215,;MAPK7,downstream_gene_variant,,ENST00000482850,;MAPK7,downstream_gene_variant,,ENST00000579284,;MAPK7,downstream_gene_variant,,ENST00000603493,;MAPK7,downstream_gene_variant,,ENST00000571657,;MFAP4,upstream_gene_variant,,ENST00000574313,;MAPK7,downstream_gene_variant,,ENST00000572968,;MAPK7,downstream_gene_variant,,ENST00000573417,;MFAP4,non_coding_transcript_exon_variant,,ENST00000571210,;MAPK7,downstream_gene_variant,,ENST00000570306,;MAPK7,downstream_gene_variant,,ENST00000490660,;MAPK7,downstream_gene_variant,,ENST00000572716,;MAPK7,downstream_gene_variant,,ENST00000581260,;	G	ENST00000395592	Transcript	missense_variant	419/1932	347/840	116/279	F/S	tTc/tCc		1		-1	MFAP4	HGNC	HGNC:7035	protein_coding	YES	CCDS56023.1	ENSP00000378957	P55083	A0A024QZ34	UPI000014C39C	NM_001198695.1	deleterious(0)		4/6		Gene3D:3.90.215.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,SMART_domains:SM00186,Superfamily_domains:SSF56496																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	19385420	19385420	A	G	1	0	0	0	0	1	0	0	0	9470	246	9	5		5	MFAP4	17	19385420	Missense_Mutation	SNP	A	C3N-01488_TP	7695087	19385420	63872021	473	26437											
EFCAB5	0	.	GRCh38	chr17	30091898	30091898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtcagggaagtccagcGggcaggaattctcttcttcc	10	10	11	10	1	3	0	1	0	2	0	6	2	5	2	2	3	1	1	2	3	3	3	rs762793386		C3N-01488_TP	C3N-01488_NB	G	G																c.3965G>T	p.Arg1322Leu	p.R1322L	ENST00000394835	21/23	104	97	7	164	164	0	strelka-varscan-mutect	EFCAB5,missense_variant,p.Arg1322Leu,ENST00000394835,NM_198529.3;EFCAB5,missense_variant,p.Arg1004Leu,ENST00000419434,;EFCAB5,intron_variant,,ENST00000588978,;RP11-1148O4.2,intron_variant,,ENST00000582938,;EFCAB5,non_coding_transcript_exon_variant,,ENST00000582953,;	T	ENST00000394835	Transcript	missense_variant	4157/5132	3965/4512	1322/1503	R/L	cGg/cTg	rs762793386	1		1	EFCAB5	HGNC	HGNC:24801	protein_coding	YES	CCDS11254.2	ENSP00000378312	A4FU69		UPI0000E59EF5	NM_198529.3	deleterious(0)		21/23		hmmpanther:PTHR31938,hmmpanther:PTHR31938:SF6																	MODERATE	1	SNV	1			1										PASS		rs762793386	.												T	3	4	80	30091898	30091898	G	T	1	0	0	0	0	1	0	0	0	4772	1116	39	1		1	EFCAB5	17	30091898	Missense_Mutation	SNP	G	C3N-01488_TP	10706478	30091898	53165543	474	26438											
TOP2A	0	.	GRCh38	chr17	40408122	40408122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acactcagtggagtttcggcCccctaaaataaaaatataca	16	9	6	10	1	1	0	1	0	0	0	2	1	1	1	2	2	1	1	2	2	7	5	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1345G>T	p.Gly449Cys	p.G449C	ENST00000423485	12/35	78	70	8	105	105	0	strelka-varscan-mutect	TOP2A,missense_variant,p.Gly449Cys,ENST00000423485,NM_001067.3;	A	ENST00000423485	Transcript	missense_variant,splice_region_variant	1504/5758	1345/4596	449/1531	G/C	Ggc/Tgc		1		-1	TOP2A	HGNC	HGNC:11989	protein_coding	YES	CCDS45672.1	ENSP00000411532	P11388		UPI0000137195	NM_001067.3	deleterious(0.05)		12/35		Gene3D:3.40.50.670,Prints_domain:PR01158,hmmpanther:PTHR10169,hmmpanther:PTHR10169:SF46,SMART_domains:SM00433,Superfamily_domains:SSF56719																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	40408122	40408122	C	A	1	0	0	0	0	1	0	0	0	16841	637	22	2		2	TOP2A	17	40408122	Missense_Mutation	SNP	C	C3N-01488_TP	10316224	40408122	42849319	475	26439											
COASY	0	.	GRCh38	chr17	42565711	42565711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaagccgcggctcaaaGccggctgcagagccagatga	11	4	14	12	3	1	4	1	2	0	2	1	4	1	4	3	2	4	3	3	2	2	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1625G>T	p.Ser542Ile	p.S542I	ENST00000590958	10/11	269	245	24	360	360	0	strelka-varscan-mutect	COASY,missense_variant,p.Ser513Ile,ENST00000393818,NM_025233.6;COASY,missense_variant,p.Ser513Ile,ENST00000421097,NM_001042529.2;COASY,missense_variant,p.Ser542Ile,ENST00000590958,NM_001042532.3;MLX,upstream_gene_variant,,ENST00000246912,NM_170607.2;MLX,upstream_gene_variant,,ENST00000435881,NM_198204.1;MLX,upstream_gene_variant,,ENST00000346833,NM_198205.1;COASY,downstream_gene_variant,,ENST00000591779,;MLX,upstream_gene_variant,,ENST00000591024,;COASY,downstream_gene_variant,,ENST00000586771,;COASY,downstream_gene_variant,,ENST00000585811,;COASY,downstream_gene_variant,,ENST00000585909,;COASY,downstream_gene_variant,,ENST00000587858,;COASY,downstream_gene_variant,,ENST00000587157,;COASY,downstream_gene_variant,,ENST00000587214,;RP11-400F19.8,downstream_gene_variant,,ENST00000585572,;COASY,downstream_gene_variant,,ENST00000588757,;COASY,non_coding_transcript_exon_variant,,ENST00000591753,;COASY,non_coding_transcript_exon_variant,,ENST00000591583,;MLX,upstream_gene_variant,,ENST00000590050,;MLX,upstream_gene_variant,,ENST00000588320,;MLX,upstream_gene_variant,,ENST00000585403,;MLX,upstream_gene_variant,,ENST00000586393,;MLX,upstream_gene_variant,,ENST00000590084,;MLX,upstream_gene_variant,,ENST00000592717,;MLX,upstream_gene_variant,,ENST00000591195,;COASY,downstream_gene_variant,,ENST00000588353,;	T	ENST00000590958	Transcript	missense_variant	1750/1976	1625/1782	542/593	S/I	aGc/aTc		1		1	COASY	HGNC	HGNC:29932	protein_coding	YES	CCDS45685.1	ENSP00000464814	Q13057		UPI00018131ED	NM_001042532.3	tolerated(0.08)		10/11		PROSITE_profiles:PS51219,HAMAP:MF_00376,hmmpanther:PTHR10695,hmmpanther:PTHR10695:SF20,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00152,Pfam_domain:PF01121,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	42565711	42565711	G	T	1	0	0	0	0	1	0	0	0	3441	971	34	2		2	COASY	17	42565711	Missense_Mutation	SNP	G	C3N-01488_TP	2157589	42565711	40691730	476	26440											
CACNA1G	0	.	GRCh38	chr17	50618941	50618941	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgacagccccgacagccccaAgcctggggctctgcacccag	8	3	11	19	2	1	0	0	0	1	0	1	2	1	0	6	2	4	2	6	2	1	0	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.5714A>T	p.Lys1905Met	p.K1905M	ENST00000359106	33/38	59	29	30	73	73	0	strelka-varscan-mutect	CACNA1G,missense_variant,p.Lys1871Met,ENST00000354983,NM_198396.2;CACNA1G,missense_variant,p.Lys1871Met,ENST00000352832,NM_198387.2;CACNA1G,missense_variant,p.Lys1905Met,ENST00000359106,NM_018896.4;CACNA1G,missense_variant,p.Lys1882Met,ENST00000360761,NM_198382.2;CACNA1G,missense_variant,p.Lys1864Met,ENST00000442258,NM_198388.2;CACNA1G,missense_variant,p.Lys1887Met,ENST00000429973,NM_198386.2;CACNA1G,missense_variant,p.Lys1894Met,ENST00000507336,NM_198377.2;CACNA1G,missense_variant,p.Lys1871Met,ENST00000358244,NM_198376.2;CACNA1G,missense_variant,p.Lys1905Met,ENST00000507510,NM_198385.2;CACNA1G,missense_variant,p.Lys1894Met,ENST00000515765,NM_198380.2;CACNA1G,missense_variant,p.Lys1887Met,ENST00000515411,NM_001256324.1;CACNA1G,missense_variant,p.Lys1882Met,ENST00000502264,NM_198383.2;CACNA1G,missense_variant,p.Lys1871Met,ENST00000510115,NM_198379.2;CACNA1G,missense_variant,p.Lys1912Met,ENST00000514079,NM_001256325.1;CACNA1G,missense_variant,p.Lys1860Met,ENST00000513689,NM_001256326.1;CACNA1G,missense_variant,p.Lys1905Met,ENST00000515165,NM_198384.2;CACNA1G,missense_variant,p.Lys1898Met,ENST00000507609,NM_001256327.1;CACNA1G,missense_variant,p.Lys1894Met,ENST00000512389,NM_198378.2;CACNA1G,missense_variant,p.Lys1880Met,ENST00000514181,NM_001256328.1;CACNA1G,missense_variant,p.Lys1871Met,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,missense_variant,p.Lys1860Met,ENST00000513964,NM_001256360.1,NM_001256361.1,NM_001256330.1;CACNA1G,missense_variant,p.Lys1853Met,ENST00000510366,NM_001256331.1;CACNA1G,missense_variant,p.Lys1848Met,ENST00000514717,NM_001256332.1;CACNA1G,missense_variant,p.Lys1905Met,ENST00000505165,NM_001256333.1;CACNA1G,missense_variant,p.Lys1894Met,ENST00000507896,NM_001256334.1;CACNA1G,3_prime_UTR_variant,,ENST00000506406,;CACNA1G,3_prime_UTR_variant,,ENST00000504076,;CACNA1G,3_prime_UTR_variant,,ENST00000511765,;CACNA1G,3_prime_UTR_variant,,ENST00000503436,;CACNA1G,3_prime_UTR_variant,,ENST00000511768,;CACNA1G,3_prime_UTR_variant,,ENST00000503607,;	T	ENST00000359106	Transcript	missense_variant	5714/7648	5714/7134	1905/2377	K/M	aAg/aTg		1		1	CACNA1G	HGNC	HGNC:1394	protein_coding	YES	CCDS45730.1	ENSP00000352011	O43497		UPI000012727A	NM_018896.4	tolerated(0.06)		33/38		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	50618941	50618941	A	T	1	0	0	0	0	1	0	0	0	2232	72	3	4		4	CACNA1G	17	50618941	Missense_Mutation	SNP	A	C3N-01488_TP	8053230	50618941	32638500	477	26441											
SPAG9	0	.	GRCh38	chr17	50990505	50990505	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactaggggaagtggcagcTcccgtcacaccttctgcaga	9	8	12	12	1	2	1	1	0	1	1	3	2	3	2	2	3	3	4	2	3	3	3	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.2562A>T	p.=	p.G854G	ENST00000262013	20/30	607	370	237	544	544	0	strelka-varscan-mutect	SPAG9,synonymous_variant,p.=,ENST00000262013,NM_001130528.2;SPAG9,synonymous_variant,p.=,ENST00000618113,;SPAG9,synonymous_variant,p.=,ENST00000510283,NM_001251971.1;SPAG9,synonymous_variant,p.=,ENST00000357122,NM_003971.5;SPAG9,synonymous_variant,p.=,ENST00000505279,NM_001130527.2;SPAG9,synonymous_variant,p.=,ENST00000513906,;SPAG9,synonymous_variant,p.=,ENST00000513746,;SPAG9,non_coding_transcript_exon_variant,,ENST00000514613,;SPAG9,non_coding_transcript_exon_variant,,ENST00000505173,;SPAG9,non_coding_transcript_exon_variant,,ENST00000514205,;SPAG9,downstream_gene_variant,,ENST00000506483,;	A	ENST00000262013	Transcript	synonymous_variant	2771/8273	2562/3966	854/1321	G	ggA/ggT		1		-1	SPAG9	HGNC	HGNC:14524	protein_coding	YES	CCDS45740.1	ENSP00000262013	O60271		UPI0000D60DF7	NM_001130528.2			20/30		hmmpanther:PTHR13886,hmmpanther:PTHR13886:SF2																	LOW	1	SNV	1			1										PASS		rs1430051962	.												A	2	1	80	50990505	50990505	T	A	1	0	0	0	0	0	0	0	1	15316	1538	54	4		4	SPAG9	17	50990505	Silent	SNP	T	C3N-01488_TP	371564	50990505	32266936	478	26442											
C17orf67	0	.	GRCh38	chr17	56795118	56795118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtttgcagtgagggttcagCcagtgctccaggaactgctc	7	10	14	10	0	1	1	1	1	0	0	3	2	2	2	2	3	5	5	2	3	1	2	rs771245835		C3N-01488_TP	C3N-01488_NB	C	C																c.219G>T	p.Trp73Cys	p.W73C	ENST00000397861	7/8	381	336	45	362	360	2	strelka-varscan-mutect	C17orf67,missense_variant,p.Trp73Cys,ENST00000397861,NM_001085430.2;C17orf67,non_coding_transcript_exon_variant,,ENST00000570754,;	A	ENST00000397861	Transcript	missense_variant	1499/2013	219/273	73/90	W/C	tgG/tgT	rs771245835	1		-1	C17orf67	HGNC	HGNC:27900	protein_coding	YES	CCDS42364.2	ENSP00000380959	Q0P5P2		UPI000015F12E	NM_001085430.2	deleterious_low_confidence(0.03)		7/8		hmmpanther:PTHR35971,Pfam_domain:PF15076																	MODERATE	1	SNV	1			1										PASS		rs771245835	.												A	3	1	80	56795118	56795118	C	A	1	0	0	0	0	1	0	0	0	1887	740	26	2		2	C17orf67	17	56795118	Missense_Mutation	SNP	C	C3N-01488_TP	5804613	56795118	26462323	479	26443											
EPX	0	.	GRCh38	chr17	58197211	58197211	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaacctgcacgatgacccCtgtctcctcaccaaccgctc	9	7	6	19	2	2	1	1	1	1	0	4	3	2	1	6	0	3	2	6	0	2	0	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1074C>A	p.=	p.P358P	ENST00000225371	7/13	309	271	38	303	303	0	strelka-varscan-mutect	EPX,synonymous_variant,p.=,ENST00000225371,NM_000502.4;	A	ENST00000225371	Transcript	synonymous_variant	1184/2708	1074/2148	358/715	P	ccC/ccA		1		1	EPX	HGNC	HGNC:3423	protein_coding	YES	CCDS11602.1	ENSP00000225371	P11678		UPI0000131629	NM_000502.4			7/13		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF63,hmmpanther:PTHR11475,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	80	58197211	58197211	C	A	1	0	0	0	0	0	0	0	1	5048	668	24	2		2	EPX	17	58197211	Silent	SNP	C	C3N-01488_TP	1402093	58197211	25060230	480	26444											
EFCAB3	0	.	GRCh38	chr17	62391848	62391848	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatgcctacaacttcttcTacaaggacaaaactggctgt	14	10	7	10	0	2	1	0	0	2	1	2	2	2	2	1	2	5	1	1	2	7	4	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.334T>C	p.Tyr112His	p.Y112H	ENST00000450662	6/12	214	128	86	210	210	0	strelka-varscan-mutect	EFCAB3,missense_variant,p.Tyr112His,ENST00000450662,NM_001144933.1;EFCAB3,missense_variant,p.Tyr60His,ENST00000305286,NM_173503.3;EFCAB3,missense_variant,p.Tyr60His,ENST00000518576,;EFCAB3,missense_variant,p.Tyr60His,ENST00000520404,;EFCAB3,non_coding_transcript_exon_variant,,ENST00000636041,;	C	ENST00000450662	Transcript	missense_variant	405/1694	334/1473	112/490	Y/H	Tac/Cac		1		1	EFCAB3	HGNC	HGNC:26379	protein_coding	YES	CCDS45751.1	ENSP00000403932	Q8N7B9		UPI0001929531	NM_001144933.1	tolerated(0.16)		6/12		PROSITE_profiles:PS50222,hmmpanther:PTHR23050:SF158,hmmpanther:PTHR23050,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	80	62391848	62391848	T	C	1	0	0	0	0	1	0	0	0	4771	1522	53	5		5	EFCAB3	17	62391848	Missense_Mutation	SNP	T	C3N-01488_TP	4194637	62391848	20865593	481	26445											
TANC2	0	.	GRCh38	chr17	63421349	63421349	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccatctagcaatagtatCtcctccacctccaacctaac	11	11	2	17	0	3	0	0	0	3	0	7	0	5	0	6	0	3	2	6	0	6	4	rs200558942		C3N-01488_TP	C3N-01488_NB	C	C																c.5367C>A	p.=	p.I1789I	ENST00000424789	25/25	322	287	35	335	334	1	strelka-varscan-mutect	TANC2,synonymous_variant,p.=,ENST00000424789,NM_025185.3;TANC2,synonymous_variant,p.=,ENST00000389520,;TANC2,synonymous_variant,p.=,ENST00000613171,;TANC2,3_prime_UTR_variant,,ENST00000583356,;RP11-269G24.3,intron_variant,,ENST00000583552,;	A	ENST00000424789	Transcript	synonymous_variant	5371/11721	5367/5973	1789/1990	I	atC/atA	rs200558942	1		1	TANC2	HGNC	HGNC:30212	protein_coding	YES	CCDS45754.1	ENSP00000387593	Q9HCD6		UPI00015D57DF	NM_025185.3			25/25		hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF21,Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		rs200558942	.												A	2	1	80	63421349	63421349	C	A	1	0	0	0	0	0	0	0	1	15942	903	32	2		2	TANC2	17	63421349	Silent	SNP	C	C3N-01488_TP	1029501	63421349	19836092	482	26446											
LRRC37A3	0	.	GRCh38	chr17	64860117	64860117	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctcttcgctgcagagaaCggaagcctgtttgagagcat	10	9	13	9	2	1	2	0	1	1	2	2	5	1	3	1	2	4	5	1	2	2	2	rs555242552		C3N-01488_TP	C3N-01488_NB	C	C																c.4029G>A	p.=	p.P1343P	ENST00000584306	11/14	675	599	76	680	679	1	strelka-varscan-mutect	LRRC37A3,synonymous_variant,p.=,ENST00000584306,NM_199340.3;LRRC37A3,synonymous_variant,p.=,ENST00000319651,;LRRC37A3,synonymous_variant,p.=,ENST00000400877,;LRRC37A3,synonymous_variant,p.=,ENST00000334962,;LRRC37A3,synonymous_variant,p.=,ENST00000339474,NM_001303255.1;LRRC37A3,downstream_gene_variant,,ENST00000581368,;LRRC37A3,downstream_gene_variant,,ENST00000584788,;LRRC37A3,upstream_gene_variant,,ENST00000583510,;LRRC37A3,downstream_gene_variant,,ENST00000579305,;	T	ENST00000584306	Transcript	synonymous_variant	4560/5665	4029/4905	1343/1634	P	ccG/ccA	rs555242552,COSM1522010	1		-1	LRRC37A3	HGNC	HGNC:32427	protein_coding	YES	CCDS32708.1	ENSP00000464535	O60309		UPI00005B2F0A	NM_199340.3			11/14		hmmpanther:PTHR23045,hmmpanther:PTHR23045:SF7											0,1						LOW	1	SNV	1		0,1	1										PASS		rs555242552	.												T	2	4	80	64860117	64860117	C	T	1	0	0	0	0	0	0	0	1	8887	523	19	1		1	LRRC37A3	17	64860117	Silent	SNP	C	C3N-01488_TP	1438768	64860117	18397324	483	26447											
HELZ	0	.	GRCh38	chr17	67188455	67188455	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttatacacgtaatgatcTaatccattttgggccatctt	11	16	5	9	1	2	1	0	1	2	0	3	1	3	1	2	1	1	1	2	1	4	8	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.1026A>C	p.Leu342Phe	p.L342F	ENST00000358691	12/33	396	356	40	444	444	0	strelka-varscan-mutect	HELZ,missense_variant,p.Leu342Phe,ENST00000358691,NM_014877.3;HELZ,missense_variant,p.Leu342Phe,ENST00000580168,;HELZ,upstream_gene_variant,,ENST00000578783,;HELZ,downstream_gene_variant,,ENST00000580662,;HELZ,upstream_gene_variant,,ENST00000578938,;HELZ,missense_variant,p.Leu342Phe,ENST00000579953,;HELZ,missense_variant,p.Leu342Phe,ENST00000417253,;HELZ,non_coding_transcript_exon_variant,,ENST00000582864,;	G	ENST00000358691	Transcript	missense_variant	1193/13810	1026/5829	342/1942	L/F	ttA/ttC		1		-1	HELZ	HGNC	HGNC:16878	protein_coding	YES	CCDS42374.1	ENSP00000351524	P42694		UPI000013D7F5	NM_014877.3	tolerated(0.08)		12/33		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF365																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	67188455	67188455	T	G	1	0	0	0	0	1	0	0	0	6931	1519	53	5		5	HELZ	17	67188455	Missense_Mutation	SNP	T	C3N-01488_TP	2328338	67188455	16068986	484	26448											
BPTF	0	.	GRCh38	chr17	67903805	67903805	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggttacaccggatgacaTcaattgaaagagaagaaaag	18	8	10	5	1	1	4	1	2	0	2	1	6	1	5	1	2	1	1	1	2	7	3	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.2560T>G	p.Ser854Ala	p.S854A	ENST00000306378	8/28	76	72	4	106	106	0	varscan-mutect	BPTF,missense_variant,p.Ser980Ala,ENST00000321892,NM_004459.6;BPTF,missense_variant,p.Ser854Ala,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Ser841Ala,ENST00000424123,;BPTF,missense_variant,p.Ser917Ala,ENST00000544778,;BPTF,3_prime_UTR_variant,,ENST00000335221,;	G	ENST00000306378	Transcript	missense_variant	2620/9688	2560/8763	854/2920	S/A	Tca/Gca		1		1	BPTF	HGNC	HGNC:3581	protein_coding	YES	CCDS11673.1	ENSP00000307208	Q12830		UPI00002263BF	NM_182641.3	tolerated(0.65)		8/28		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	67903805	67903805	T	G	1	0	0	0	0	1	0	0	0	1664	1435	50	5		5	BPTF	17	67903805	Missense_Mutation	SNP	T	C3N-01488_TP	715350	67903805	15353636	485	26449											
BPTF	0	.	GRCh38	chr17	67945940	67945940	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcatcaggacaaactttaaAtcaagttactgtttcatccc	13	14	4	10	0	4	0	4	0	0	0	5	1	5	1	1	1	2	2	1	1	5	5	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.7232A>G	p.Asn2411Ser	p.N2411S	ENST00000306378	21/28	481	423	58	486	485	1	strelka-varscan-mutect	BPTF,missense_variant,p.Asn2537Ser,ENST00000321892,NM_004459.6;BPTF,missense_variant,p.Asn2411Ser,ENST00000306378,NM_182641.3;BPTF,intron_variant,,ENST00000424123,;BPTF,intron_variant,,ENST00000342579,;BPTF,intron_variant,,ENST00000580465,;BPTF,downstream_gene_variant,,ENST00000544778,;BPTF,upstream_gene_variant,,ENST00000581258,;RP11-855A2.3,downstream_gene_variant,,ENST00000577385,;BPTF,downstream_gene_variant,,ENST00000577770,;BPTF,downstream_gene_variant,,ENST00000582406,;BPTF,downstream_gene_variant,,ENST00000584931,;	G	ENST00000306378	Transcript	missense_variant	7292/9688	7232/8763	2411/2920	N/S	aAt/aGt		1		1	BPTF	HGNC	HGNC:3581	protein_coding	YES	CCDS11673.1	ENSP00000307208	Q12830		UPI00002263BF	NM_182641.3	tolerated_low_confidence(0.64)		21/28		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	67945940	67945940	A	G	1	0	0	0	0	1	0	0	0	1664	101	4	5		5	BPTF	17	67945940	Missense_Mutation	SNP	A	C3N-01488_TP	42135	67945940	15311501	486	26450											
KIF19	0	.	GRCh38	chr17	74351918	74351918	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgcgcggggccggcgcctgGaggagacgctgccgcggcgc	3	2	21	15	9	0	1	0	0	0	1	0	3	0	2	3	6	1	1	3	6	0	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1639G>T	p.Glu547Ter	p.E547*	ENST00000389916	13/20	141	96	45	128	128	0	strelka-mutect	KIF19,stop_gained,p.Glu547Ter,ENST00000389916,NM_153209.3;KIF19,stop_gained,p.Glu505Ter,ENST00000551294,;BTBD17,downstream_gene_variant,,ENST00000375366,NM_001080466.1;KIF19,downstream_gene_variant,,ENST00000547389,;KIF19,downstream_gene_variant,,ENST00000359939,;KIF19,downstream_gene_variant,,ENST00000549637,;	T	ENST00000389916	Transcript	stop_gained	1777/3643	1639/2997	547/998	E/*	Gag/Tag		1		1	KIF19	HGNC	HGNC:26735	protein_coding	YES	CCDS32718.2	ENSP00000374566	Q2TAC6		UPI0000F0A553	NM_153209.3			13/20		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF434																	HIGH		SNV	5			1										PASS		.	.												T	4	4	80	74351918	74351918	G	T	1	0	0	0	0	0	1	0	0	8146	1175	41	2		2	KIF19	17	74351918	Nonsense_Mutation	SNP	G	C3N-01488_TP	6405978	74351918	8905523	487	26451											
MYO15B	0	.	GRCh38	chr17	75592493	75592493	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctggactccatagagcgGgagcggctctccctgcaggg	6	6	17	12	2	1	1	0	0	1	1	3	3	2	3	2	5	3	3	2	5	1	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.2592G>T	p.=	p.R864R	ENST00000610510	6/63	21	17	4	32	32	0	strelka-varscan-mutect	MYO15B,synonymous_variant,p.=,ENST00000610510,;MYO15B,upstream_gene_variant,,ENST00000633867,;MYO15B,upstream_gene_variant,,ENST00000584762,;MYO15B,downstream_gene_variant,,ENST00000582561,;MYO15B,downstream_gene_variant,,ENST00000578564,;MYO15B,synonymous_variant,p.=,ENST00000621743,;MYO15B,3_prime_UTR_variant,,ENST00000584516,;MYO15B,non_coding_transcript_exon_variant,,ENST00000581866,;MYO15B,intron_variant,,ENST00000619501,;MYO15B,downstream_gene_variant,,ENST00000581612,;MYO15B,upstream_gene_variant,,ENST00000580701,;	T	ENST00000610510	Transcript	synonymous_variant	2592/9195	2592/9195	864/3064	R	cgG/cgT		1		1	MYO15B	HGNC	HGNC:14083	protein_coding	YES		ENSP00000488624		A0A0J9YY01	UPI00064546F0				6/63		PROSITE_profiles:PS51456,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		rs1222752755	.												T	2	4	80	75592493	75592493	G	T	1	0	0	0	0	0	0	0	1	10064	1219	43	2		2	MYO15B	17	75592493	Silent	SNP	G	C3N-01488_TP	1240575	75592493	7664948	488	26452											
LGALS3BP	0	.	GRCh38	chr17	78972541	78972542	+	Frame_Shift_Ins	INS	-	-	A																															cctgtggccactgcataggcINSatacaggtccaggggcatct																								novel		C3N-01488_TP	C3N-01488_NB	-	-																c.792dupT	p.Ala265CysfsTer73	p.A265Cfs*73	ENST00000262776	6/6	97	85	12	117	117	0	sindel-varindel-pindel	LGALS3BP,frameshift_variant,p.Ala265CysfsTer73,ENST00000262776,NM_005567.3;LGALS3BP,frameshift_variant,p.Met180IlefsTer323,ENST00000591778,;LGALS3BP,downstream_gene_variant,,ENST00000585407,;LGALS3BP,downstream_gene_variant,,ENST00000589775,;LGALS3BP,downstream_gene_variant,,ENST00000589527,;LGALS3BP,downstream_gene_variant,,ENST00000589906,;LGALS3BP,downstream_gene_variant,,ENST00000591274,;LGALS3BP,3_prime_UTR_variant,,ENST00000587251,;LGALS3BP,3_prime_UTR_variant,,ENST00000587311,;LGALS3BP,3_prime_UTR_variant,,ENST00000586720,;LGALS3BP,3_prime_UTR_variant,,ENST00000588198,;LGALS3BP,non_coding_transcript_exon_variant,,ENST00000588508,;LGALS3BP,downstream_gene_variant,,ENST00000588587,;LGALS3BP,downstream_gene_variant,,ENST00000587310,;LGALS3BP,downstream_gene_variant,,ENST00000588899,;LGALS3BP,downstream_gene_variant,,ENST00000588990,;LGALS3BP,downstream_gene_variant,,ENST00000588205,;LGALS3BP,downstream_gene_variant,,ENST00000592255,;LGALS3BP,downstream_gene_variant,,ENST00000586300,;	A	ENST00000262776	Transcript	frameshift_variant	1101-1102/2405	792-793/1758	264-265/585	-/X	-/T		1		-1	LGALS3BP	HGNC	HGNC:6564	protein_coding	YES	CCDS11759.1	ENSP00000262776	Q08380	A0A0S2Z3Y1	UPI000006E64A	NM_005567.3			6/6		hmmpanther:PTHR24410,hmmpanther:PTHR24410:SF13,Pfam_domain:PF07707,SMART_domains:SM00875																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	80	78972541	78972541	-	A	1	0	1	1	0	0	0	0	0	8652	710	25	0		0	LGALS3BP	17	78972541	Frame_Shift_Ins	INS	-	C3N-01488_TP	3380048	78972541	4284900	489	26453											
ENPP7	0	.	GRCh38	chr17	79735557	79735557	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccctcaaggacgcccaccCcaagctccacgtctacaaga	11	5	7	18	2	2	1	1	0	1	1	3	2	3	2	5	1	3	1	5	1	4	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.914C>A	p.Pro305His	p.P305H	ENST00000328313	3/6	470	283	187	401	401	0	strelka-varscan-mutect	ENPP7,missense_variant,p.Pro305His,ENST00000328313,NM_178543.4;ENPP7,missense_variant,p.Pro6His,ENST00000576512,;	A	ENST00000328313	Transcript	missense_variant	1135/2043	914/1377	305/458	P/H	cCc/cAc		1		1	ENPP7	HGNC	HGNC:23764	protein_coding	YES	CCDS11763.1	ENSP00000332656	Q6UWV6		UPI000019219F	NM_178543.4	deleterious(0.02)		3/6		Gene3D:3.40.720.10,Pfam_domain:PF01663,hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF63,Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1										PASS		rs1263330435	.												A	3	1	80	79735557	79735557	C	A	1	0	0	0	0	1	0	0	0	4980	623	22	2		2	ENPP7	17	79735557	Missense_Mutation	SNP	C	C3N-01488_TP	763016	79735557	3521884	490	26454											
CCDC57	0	.	GRCh38	chr17	82101742	82101742	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcctttagcttttgcAggatgagaccgggaggctcc	7	10	14	10	1	0	1	0	1	0	1	1	4	1	3	3	4	3	4	3	4	1	4	rs771727603		C3N-01488_TP	C3N-01488_NB	A	A																c.2691T>C	p.=	p.P897P	ENST00000389641	18/18	171	146	25	166	165	1	strelka-varscan-mutect	CCDC57,missense_variant,p.Cys210Arg,ENST00000392345,;CCDC57,synonymous_variant,p.=,ENST00000389641,;CCDC57,synonymous_variant,p.=,ENST00000392347,NM_198082.2;CCDC57,intron_variant,,ENST00000583053,;FASN,upstream_gene_variant,,ENST00000306749,NM_004104.4;FASN,upstream_gene_variant,,ENST00000634990,;FASN,upstream_gene_variant,,ENST00000635197,;FASN,upstream_gene_variant,,ENST00000636968,;FASN,upstream_gene_variant,,ENST00000637026,;CCDC57,non_coding_transcript_exon_variant,,ENST00000584717,;CCDC57,downstream_gene_variant,,ENST00000582100,;FASN,upstream_gene_variant,,ENST00000635733,;FASN,upstream_gene_variant,,ENST00000637693,;CCDC57,downstream_gene_variant,,ENST00000583593,;	G	ENST00000389641	Transcript	synonymous_variant	2728/3000	2691/2751	897/916	P	ccT/ccC	rs771727603	1		-1	CCDC57	HGNC	HGNC:27564	protein_coding	YES		ENSP00000374292	Q2TAC2		UPI000155D557				18/18																			LOW		SNV	5			1										PASS		rs771727603	.												G	2	3	80	82101742	82101742	A	G	1	0	0	0	0	0	0	0	1	2529	175	7	5		5	CCDC57	17	82101742	Silent	SNP	A	C3N-01488_TP	2366185	82101742	1155699	491	26455											
TGIF1	0	.	GRCh38	chr18	3457438	3457438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggatggcaaagatccaaAtcagttcacaatttcccgcc	15	8	7	11	1	2	1	2	0	0	1	4	2	4	2	3	2	0	2	3	2	4	2	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.704A>G	p.Asn235Ser	p.N235S	ENST00000330513	3/3	433	399	34	604	604	0	strelka-varscan-mutect	TGIF1,missense_variant,p.Asn120Ser,ENST00000618001,NM_173207.2;TGIF1,missense_variant,p.Asn86Ser,ENST00000472042,;TGIF1,missense_variant,p.Asn106Ser,ENST00000343820,NM_001278684.1,NM_173208.2,NM_003244.3;TGIF1,missense_variant,p.Asn235Ser,ENST00000330513,NM_170695.3;TGIF1,missense_variant,p.Asn86Ser,ENST00000405385,NM_173209.2;TGIF1,missense_variant,p.Asn86Ser,ENST00000401449,NM_174886.2;TGIF1,missense_variant,p.Asn106Ser,ENST00000407501,;TGIF1,missense_variant,p.Asn86Ser,ENST00000548489,NM_001278686.1;TGIF1,missense_variant,p.Asn86Ser,ENST00000400167,NM_173211.1;TGIF1,missense_variant,p.Asn86Ser,ENST00000552383,;TGIF1,missense_variant,p.Asn86Ser,ENST00000345133,;TGIF1,missense_variant,p.Asn86Ser,ENST00000551541,NM_173210.2;TGIF1,missense_variant,p.Asn86Ser,ENST00000549546,;TGIF1,missense_variant,p.Asn86Ser,ENST00000549780,;TGIF1,missense_variant,p.Asn86Ser,ENST00000550958,;TGIF1,missense_variant,p.Asn86Ser,ENST00000551333,;TGIF1,missense_variant,p.Asn86Ser,ENST00000549253,;TGIF1,missense_variant,p.Asn106Ser,ENST00000546979,;TGIF1,missense_variant,p.Asn86Ser,ENST00000549468,;TGIF1,3_prime_UTR_variant,,ENST00000577543,;TGIF1,downstream_gene_variant,,ENST00000551402,;	G	ENST00000330513	Transcript	missense_variant	1007/1980	704/1206	235/401	N/S	aAt/aGt		1		1	TGIF1	HGNC	HGNC:11776	protein_coding	YES	CCDS11834.1	ENSP00000327959	Q15583		UPI0000140386	NM_170695.3	deleterious(0.02)		3/3		hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF59,Gene3D:1.10.10.60,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	3457438	3457438	A	G	1	0	0	0	0	1	0	0	0	16258	101	4	5		5	TGIF1	18	3457438	Missense_Mutation	SNP	A	C3N-01488_TP		3457438	76915847	492	26456											
PTPRM	0	.	GRCh38	chr18	8113647	8113647	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagacagcctccaagctgCgcagccttttacaattggtg	9	10	10	12	1	0	1	0	0	0	1	1	1	1	1	3	1	6	3	3	1	3	3	rs770279168		C3N-01488_TP	C3N-01488_NB	C	C																c.2018C>G	p.Ala673Gly	p.A673G	ENST00000580170	12/33	297	239	58	454	454	0	strelka-varscan-mutect	PTPRM,missense_variant,p.Ala673Gly,ENST00000332175,NM_002845.3;PTPRM,missense_variant,p.Ala673Gly,ENST00000580170,NM_001105244.1;PTPRM,missense_variant,p.Ala611Gly,ENST00000400053,;PTPRM,missense_variant,p.Ala146Gly,ENST00000583289,;PTPRM,missense_variant,p.Ala26Gly,ENST00000577468,;PTPRM,5_prime_UTR_variant,,ENST00000400060,;PTPRM,downstream_gene_variant,,ENST00000578571,;	G	ENST00000580170	Transcript	missense_variant	3055/5941	2018/4398	673/1465	A/G	gCg/gGg	rs770279168,COSM167690,COSM4409859	1		1	PTPRM	HGNC	HGNC:9675	protein_coding	YES	CCDS58613.1	ENSP00000463325	P28827		UPI00015CFC03	NM_001105244.1	tolerated(0.07)		12/33		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206,SMART_domains:SM00060											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs770279168	.												G	3	3	80	8113647	8113647	C	G	1	0	0	0	0	1	0	0	0	12960	768	27	4		4	PTPRM	18	8113647	Missense_Mutation	SNP	C	C3N-01488_TP	4656209	8113647	72259638	493	26457											
SLC35G4	0	.	GRCh38	chr18	11609630	11609630	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctacttcaacctgcctgActccacacacccatcgccgc	8	7	4	22	2	1	1	1	1	0	0	3	1	2	1	7	0	3	0	7	0	2	2	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.35A>T	p.Asp12Val	p.D12V	ENST00000636911	1/2	65	55	10	115	115	0	strelka-varscan-mutect	SLC35G4,missense_variant,p.Asp12Val,ENST00000636911,;SLC35G4,missense_variant,p.Asp12Val,ENST00000588001,NM_001282300.1;	T	ENST00000636911	Transcript	missense_variant	156/1201	35/1017	12/338	D/V	gAc/gTc		1		1	SLC35G4	HGNC	HGNC:31043	protein_coding	YES		ENSP00000489773			UPI0001AE65E0		deleterious(0)		1/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	80	11609630	11609630	A	T	1	0	0	0	0	1	0	0	0	14868	275	10	4		4	SLC35G4	18	11609630	Missense_Mutation	SNP	A	C3N-01488_TP	3495983	11609630	68763655	494	26458											
ZNF519	0	.	GRCh38	chr18	14106110	14106110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaaatttatgttgatattTattcataggaatacatggtt	15	17	6	3	0	1	1	1	1	0	0	1	2	1	2	0	2	1	2	0	2	8	10	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.430A>G	p.Lys144Glu	p.K144E	ENST00000590202	3/3	111	87	24	190	190	0	strelka-varscan-mutect	ZNF519,missense_variant,p.Lys144Glu,ENST00000590202,NM_145287.3;ZNF519,intron_variant,,ENST00000589498,;RP11-411B10.3,downstream_gene_variant,,ENST00000592926,;ZNF519,non_coding_transcript_exon_variant,,ENST00000588435,;ZNF519,intron_variant,,ENST00000589203,;ZNF519,intron_variant,,ENST00000591393,;ZNF519,intron_variant,,ENST00000592345,;ZNF519,intron_variant,,ENST00000592411,;ZNF519,intron_variant,,ENST00000592049,;ZNF519,non_coding_transcript_exon_variant,,ENST00000624133,;ZNF519,intron_variant,,ENST00000587419,;	C	ENST00000590202	Transcript	missense_variant	583/2830	430/1623	144/540	K/E	Aaa/Gaa		1		-1	ZNF519	HGNC	HGNC:30574	protein_coding	YES	CCDS32797.1	ENSP00000464872	Q8TB69		UPI0000201A41	NM_145287.3	tolerated(0.28)		3/3																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	80	14106110	14106110	T	C	1	0	0	0	0	1	0	0	0	18536	1763	61	5		5	ZNF519	18	14106110	Missense_Mutation	SNP	T	C3N-01488_TP	2496480	14106110	66267175	495	26459											
TCEB3B	0	.	GRCh38	chr18	47033099	47033099	+	Silent	SNP	C	C	A																															ttccgggttttggccgcgggCgccgcgtgctcattgctgct																								rs147580626,rs769725974		C3N-01488_TP	C3N-01488_NB	C	C																c.2166G>T	p.=	p.A722A	ENST00000332567	1/1	455	374	81	604	604	0	strelka-varscan-mutect	TCEB3B,synonymous_variant,p.=,ENST00000332567,NM_016427.2;TCEB3B,synonymous_variant,p.=,ENST00000620522,;KATNAL2,intron_variant,,ENST00000245121,NM_031303.2;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3C,upstream_gene_variant,,ENST00000330682,NM_145653.3;	A	ENST00000332567	Transcript	synonymous_variant	2523/3050	2166/2262	722/753	A	gcG/gcT	rs147580626,rs769725974	1		-1	TCEB3B	HGNC	HGNC:30771	protein_coding	YES	CCDS11932.1	ENSP00000331302	Q8IYF1		UPI0000140A82	NM_016427.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR15141:SF7,hmmpanther:PTHR15141																	LOW		SNV				1										PASS		rs147580626	.												A	2	1	80	47033099	47033099	C	A	1	0	0	0	0	0	0	0	1	16089	755	27	1		1	TCEB3B	18	47033099	Silent	SNP	C	C3N-01488_TP	32926989	47033099	33340186	496	26460	564	2									
TCEB3B	0	.	GRCh38	chr18	47033100	47033100	+	Missense_Mutation	SNP	G	G	T																															tccgggttttggccgcgggcGccgcgtgctcattgctgctg																								rs754313615		C3N-01488_TP	C3N-01488_NB	G	G																c.2165C>A	p.Ala722Glu	p.A722E	ENST00000332567	1/1	450	372	78	600	598	2	strelka-varscan-mutect	TCEB3B,missense_variant,p.Ala722Glu,ENST00000332567,NM_016427.2;TCEB3B,missense_variant,p.Ala515Glu,ENST00000620522,;KATNAL2,intron_variant,,ENST00000245121,NM_031303.2;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3C,upstream_gene_variant,,ENST00000330682,NM_145653.3;	T	ENST00000332567	Transcript	missense_variant	2522/3050	2165/2262	722/753	A/E	gCg/gAg	rs754313615,COSM295774	1		-1	TCEB3B	HGNC	HGNC:30771	protein_coding	YES	CCDS11932.1	ENSP00000331302	Q8IYF1		UPI0000140A82	NM_016427.2	tolerated(0.2)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR15141:SF7,hmmpanther:PTHR15141											0,1						MODERATE		SNV			0,1	1										PASS		rs923047243	.												T	3	4	80	47033100	47033100	G	T	1	0	0	0	0	1	0	0	0	16089	1087	38	1		1	TCEB3B	18	47033100	Missense_Mutation	SNP	G	C3N-01488_TP	1	47033100	33340185	497	26461	564	2									
TCEB3B	0	.	GRCh38	chr18	47033455	47033455	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggtactgctccctccAagttttgttttcctgtggct	4	15	9	13	1	0	0	0	0	0	0	3	0	3	0	4	2	2	6	4	2	2	5	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1810T>A	p.Trp604Arg	p.W604R	ENST00000332567	1/1	276	257	19	409	409	0	strelka-varscan-mutect	TCEB3B,missense_variant,p.Trp604Arg,ENST00000332567,NM_016427.2;TCEB3B,missense_variant,p.Trp412Arg,ENST00000620522,;KATNAL2,intron_variant,,ENST00000245121,NM_031303.2;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3C,upstream_gene_variant,,ENST00000330682,NM_145653.3;	T	ENST00000332567	Transcript	missense_variant	2167/3050	1810/2262	604/753	W/R	Tgg/Agg		1		-1	TCEB3B	HGNC	HGNC:30771	protein_coding	YES	CCDS11932.1	ENSP00000331302	Q8IYF1		UPI0000140A82	NM_016427.2	deleterious(0)		1/1		hmmpanther:PTHR15141:SF7,hmmpanther:PTHR15141,Pfam_domain:PF06881																	MODERATE		SNV				1										PASS		.	.												T	3	4	80	47033455	47033455	A	T	1	0	0	0	0	1	0	0	0	16089	130	5	4		4	TCEB3B	18	47033455	Missense_Mutation	SNP	A	C3N-01488_TP	355	47033455	33339830	498	26462											
TCEB3B	0	.	GRCh38	chr18	47035257	47035257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcagcgtagtggaccctGccgccatctcaccagagctg	7	7	12	15	3	1	1	1	0	1	1	2	2	1	2	4	1	4	3	4	1	1	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.8C>A	p.Ala3Glu	p.A3E	ENST00000332567	1/1	343	279	64	429	428	1	strelka-varscan-mutect	TCEB3B,missense_variant,p.Ala3Glu,ENST00000332567,NM_016427.2;TCEB3B,missense_variant,p.Ala3Glu,ENST00000620522,;KATNAL2,intron_variant,,ENST00000245121,NM_031303.2;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;	T	ENST00000332567	Transcript	missense_variant	365/3050	8/2262	3/753	A/E	gCa/gAa		1		-1	TCEB3B	HGNC	HGNC:30771	protein_coding	YES	CCDS11932.1	ENSP00000331302	Q8IYF1		UPI0000140A82	NM_016427.2	tolerated(0.07)		1/1																			MODERATE		SNV				1										PASS		.	.												T	3	4	80	47035257	47035257	G	T	1	0	0	0	0	1	0	0	0	16089	1319	46	2		2	TCEB3B	18	47035257	Missense_Mutation	SNP	G	C3N-01488_TP	1802	47035257	33338028	499	26463											
DYM	0	.	GRCh38	chr18	49286544	49286544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagactctggttggccagaGgggaagaaagctctggagag	11	6	18	6	0	2	4	0	0	2	4	2	7	2	5	1	6	1	2	1	6	2	1			C3N-01488_TP	C3N-01488_NB	G	G																c.836C>T	p.Pro279Leu	p.P279L	ENST00000269445	9/17	222	183	39	293	293	0	strelka-varscan-mutect	DYM,missense_variant,p.Pro279Leu,ENST00000269445,NM_017653.3;DYM,missense_variant,p.Pro89Leu,ENST00000442713,;DYM,missense_variant,p.Pro124Leu,ENST00000583280,;DYM,missense_variant,p.Pro124Leu,ENST00000584983,;DYM,missense_variant,p.Pro124Leu,ENST00000581738,;DYM,missense_variant,p.Pro123Leu,ENST00000583225,;DYM,non_coding_transcript_exon_variant,,ENST00000580615,;DYM,3_prime_UTR_variant,,ENST00000418472,;	A	ENST00000269445	Transcript	missense_variant	1294/5049	836/2010	279/669	P/L	cCt/cTt	COSM1388931	1		-1	DYM	HGNC	HGNC:21317	protein_coding	YES	CCDS11937.1	ENSP00000269445	Q7RTS9		UPI00001AE953	NM_017653.3	tolerated(0.1)		9/17		Low_complexity_(Seg):seg,hmmpanther:PTHR12895:SF9,hmmpanther:PTHR12895,Pfam_domain:PF09742											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	80	49286544	49286544	G	A	1	0	0	0	0	1	0	0	0	4663	1000	35	3		3	DYM	18	49286544	Missense_Mutation	SNP	G	C3N-01488_TP	2251287	49286544	31086741	500	26464											
MEX3C	0	.	GRCh38	chr18	51177180	51177180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcatttctatttcttccCgtgctcggtcaacattttca	7	18	5	11	2	4	0	2	0	2	0	6	0	5	0	1	1	3	2	1	1	3	7	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1151G>T	p.Arg384Leu	p.R384L	ENST00000406189	2/2	165	150	15	311	310	1	strelka-varscan-mutect	MEX3C,missense_variant,p.Arg384Leu,ENST00000406189,NM_016626.4;MEX3C,missense_variant,p.Arg214Leu,ENST00000616921,;MEX3C,non_coding_transcript_exon_variant,,ENST00000591040,;	A	ENST00000406189	Transcript	missense_variant	1151/3781	1151/1980	384/659	R/L	cGg/cTg		1		-1	MEX3C	HGNC	HGNC:28040	protein_coding	YES	CCDS11951.2	ENSP00000385610	Q5U5Q3		UPI00005956CD	NM_016626.4	deleterious(0)		2/2		PROSITE_profiles:PS50084,hmmpanther:PTHR23285:SF8,hmmpanther:PTHR23285,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1										PASS		rs1211176379	.												A	3	1	80	51177180	51177180	C	A	1	0	0	0	0	1	0	0	0	9464	652	23	1		1	MEX3C	18	51177180	Missense_Mutation	SNP	C	C3N-01488_TP	1890636	51177180	29196105	501	26465											
ALPK2	0	.	GRCh38	chr18	58580408	58580408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttcatgtttccaacccCtgtccctgtcatcttccagg	5	15	6	15	0	3	0	2	0	1	0	6	0	6	0	5	1	1	2	5	1	1	3	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.368G>A	p.Arg123Lys	p.R123K	ENST00000361673	4/13	300	280	20	469	468	1	strelka-varscan-mutect	ALPK2,missense_variant,p.Arg123Lys,ENST00000361673,NM_052947.3;ALPK2,non_coding_transcript_exon_variant,,ENST00000590642,;ALPK2,upstream_gene_variant,,ENST00000587399,;ALPK2,upstream_gene_variant,,ENST00000587842,;ALPK2,upstream_gene_variant,,ENST00000590662,;	T	ENST00000361673	Transcript	missense_variant	582/7303	368/6513	123/2170	R/K	aGg/aAg		1		-1	ALPK2	HGNC	HGNC:20565	protein_coding	YES	CCDS11966.2	ENSP00000354991	Q86TB3		UPI000022A768	NM_052947.3	tolerated(0.11)		4/13																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	58580408	58580408	C	T	1	0	0	0	0	1	0	0	0	645	681	24	3		3	ALPK2	18	58580408	Missense_Mutation	SNP	C	C3N-01488_TP	7403228	58580408	21792877	502	26466											
CDH20	0	.	GRCh38	chr18	61549979	61549979	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacccctccttctttcagaTaacacagcacggattctaac	12	10	5	14	1	3	1	1	0	2	1	4	3	4	2	3	1	4	1	3	1	3	5	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.1650T>A	p.Asp550Glu	p.D550E	ENST00000262717	11/12	97	80	17	133	133	0	strelka-varscan-mutect	CDH20,missense_variant,p.Asp550Glu,ENST00000262717,;CDH20,missense_variant,p.Asp550Glu,ENST00000536675,NM_031891.2;CDH20,missense_variant,p.Asp550Glu,ENST00000538374,;CDH20,non_coding_transcript_exon_variant,,ENST00000587582,;	A	ENST00000262717	Transcript	missense_variant,splice_region_variant	2048/3882	1650/2406	550/801	D/E	gaT/gaA		1		1	CDH20	HGNC	HGNC:1760	protein_coding	YES	CCDS11977.1	ENSP00000262717	Q9HBT6		UPI000013D30D		deleterious(0.02)		11/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	80	61549979	61549979	T	A	1	0	0	0	0	1	0	0	0	2809	1420	49	4		4	CDH20	18	61549979	Missense_Mutation	SNP	T	C3N-01488_TP	2969571	61549979	18823306	503	26467											
SERPINB10	0	.	GRCh38	chr18	63919898	63919898	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactcttgggttgaaagacaGaccgagggtaagctttcacc	12	9	11	9	1	2	3	1	1	1	2	2	4	2	3	2	2	2	3	2	2	3	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.483G>A	p.=	p.Q161Q	ENST00000238508	5/8	127	116	11	176	176	0	strelka-varscan-mutect	SERPINB10,synonymous_variant,p.=,ENST00000238508,;SERPINB10,synonymous_variant,p.=,ENST00000619595,NM_005024.1;SERPINB10,downstream_gene_variant,,ENST00000397996,;SERPINB10,downstream_gene_variant,,ENST00000418725,;	A	ENST00000238508	Transcript	synonymous_variant	542/2122	483/1194	161/397	Q	caG/caA		1		1	SERPINB10	HGNC	HGNC:8942	protein_coding	YES	CCDS11990.1	ENSP00000238508	P48595		UPI000013558E				5/8		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF175,SMART_domains:SM00093,Superfamily_domains:SSF56574																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	80	63919898	63919898	G	A	1	0	0	0	0	0	0	0	1	14373	933	33	3		3	SERPINB10	18	63919898	Silent	SNP	G	C3N-01488_TP	2369919	63919898	16453387	504	26468											
SALL3	0	.	GRCh38	chr18	78994247	78994247	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagttcaccaacgccgtGgtcctgcagcagcacatccg	11	6	10	14	3	1	1	1	0	0	1	3	1	3	1	4	1	4	4	4	1	3	1	rs112670102		C3N-01488_TP	C3N-01488_NB	G	G																c.2256G>T	p.=	p.V752V	ENST00000537592	2/3	192	179	13	286	286	0	strelka-varscan-mutect	SALL3,synonymous_variant,p.=,ENST00000537592,NM_171999.3;SALL3,synonymous_variant,p.=,ENST00000536229,;SALL3,synonymous_variant,p.=,ENST00000575389,;SALL3,synonymous_variant,p.=,ENST00000616649,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	T	ENST00000537592	Transcript	synonymous_variant	2256/6555	2256/3903	752/1300	V	gtG/gtT	rs112670102	1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3			2/3		PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46,PROSITE_patterns:PS00028,Pfam_domain:PF12874,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	5			1										PASS		rs112670102	.												T	2	4	80	78994247	78994247	G	T	1	0	0	0	0	0	0	0	1	14071	1335	47	2		2	SALL3	18	78994247	Silent	SNP	G	C3N-01488_TP	15074349	78994247	1379038	505	26469											
SALL3	0	.	GRCh38	chr18	78994697	78994697	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccgagtcctcgtcctcGcaggccctgtcgccggcccc	2	8	11	20	5	0	0	0	0	0	0	6	1	3	0	7	2	0	1	7	2	0	0	rs763229465		C3N-01488_TP	C3N-01488_NB	G	G																c.2706G>T	p.=	p.S902S	ENST00000537592	2/3	201	185	16	240	238	2	strelka-varscan-mutect	SALL3,synonymous_variant,p.=,ENST00000537592,NM_171999.3;SALL3,synonymous_variant,p.=,ENST00000536229,;SALL3,synonymous_variant,p.=,ENST00000575389,;SALL3,synonymous_variant,p.=,ENST00000616649,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	T	ENST00000537592	Transcript	synonymous_variant	2706/6555	2706/3903	902/1300	S	tcG/tcT	rs763229465,COSM5056143	1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3			2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46											0,1						LOW	1	SNV	5		0,1	1										PASS		rs763229465	.												T	2	4	80	78994697	78994697	G	T	1	0	0	0	0	0	0	0	1	14071	1074	38	1		1	SALL3	18	78994697	Silent	SNP	G	C3N-01488_TP	450	78994697	1378588	506	26470											
HCN2	0	.	GRCh38	chr19	590399	590399	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcgaggaggcgggcccgGcgggggagccgcgcggcagc	5	0	23	13	7	0	0	0	0	0	0	0	3	0	2	2	7	3	2	2	7	0	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.454G>C	p.Ala152Pro	p.A152P	ENST00000251287	1/8	60	32	28	61	61	0	strelka-varscan-mutect	HCN2,missense_variant,p.Ala152Pro,ENST00000251287,NM_001194.3;AC005559.3,downstream_gene_variant,,ENST00000589661,;	C	ENST00000251287	Transcript	missense_variant	507/3408	454/2670	152/889	A/P	Gcg/Ccg		1		1	HCN2	HGNC	HGNC:4846	protein_coding	YES	CCDS12035.1	ENSP00000251287	Q9UL51		UPI000013CCF6	NM_001194.3	tolerated(0.2)		1/8		Low_complexity_(Seg):seg,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF372																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	80	590399	590399	G	C	1	0	0	0	0	1	0	0	0	6884	1203	42	4		4	HCN2	19	590399	Missense_Mutation	SNP	G	C3N-01488_TP		590399	58027217	507	26471											
SBNO2	0	.	GRCh38	chr19	1117441	1117441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggccccacagggacttgCgcgactccaggccgatccag	8	5	12	16	3	0	0	0	0	0	0	2	3	2	1	5	3	1	0	5	3	0	1	rs770290202		C3N-01488_TP	C3N-01488_NB	C	C																c.1586G>T	p.Arg529Leu	p.R529L	ENST00000361757	15/32	248	231	17	259	259	0	strelka-varscan-mutect	SBNO2,missense_variant,p.Arg529Leu,ENST00000361757,NM_014963.2;SBNO2,missense_variant,p.Arg519Leu,ENST00000587024,;SBNO2,missense_variant,p.Arg472Leu,ENST00000438103,NM_001100122.1;SBNO2,non_coding_transcript_exon_variant,,ENST00000592222,;SBNO2,non_coding_transcript_exon_variant,,ENST00000590446,;	A	ENST00000361757	Transcript	missense_variant	1824/4923	1586/4101	529/1366	R/L	cGc/cTc	rs770290202	1		-1	SBNO2	HGNC	HGNC:29158	protein_coding	YES	CCDS45894.1	ENSP00000354733	Q9Y2G9		UPI0000140680	NM_014963.2	deleterious(0)		15/32		hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF5																	MODERATE	1	SNV	1			1										PASS		rs770290202	.												A	3	1	80	1117441	1117441	C	A	1	0	0	0	0	1	0	0	0	14128	768	27	1		1	SBNO2	19	1117441	Missense_Mutation	SNP	C	C3N-01488_TP	527042	1117441	57500175	508	26472											
ADAMTSL5	0	.	GRCh38	chr19	1510911	1510911	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaggaggttctggaagagGtggggcctggggaacagagg	10	5	21	5	0	1	2	0	0	1	2	1	5	1	5	1	9	2	2	1	9	2	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.33C>T	p.=	p.H11H	ENST00000330475	2/12	35	31	4	35	35	0	strelka-mutect	ADAMTSL5,synonymous_variant,p.=,ENST00000330475,NM_213604.2;ADAMTSL5,synonymous_variant,p.=,ENST00000586272,;ADAMTSL5,synonymous_variant,p.=,ENST00000585804,;ADAMTSL5,synonymous_variant,p.=,ENST00000590562,;ADAMTSL5,5_prime_UTR_variant,,ENST00000395467,;ADAMTSL5,upstream_gene_variant,,ENST00000590090,;CTB-25B13.9,downstream_gene_variant,,ENST00000590252,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000590440,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000585700,;ADAMTSL5,non_coding_transcript_exon_variant,,ENST00000589839,;ADAMTSL5,upstream_gene_variant,,ENST00000591077,;ADAMTSL5,upstream_gene_variant,,ENST00000590682,;	A	ENST00000330475	Transcript	synonymous_variant	477/2857	33/1416	11/471	H	caC/caT		1		-1	ADAMTSL5	HGNC	HGNC:27912	protein_coding	YES	CCDS12071.1	ENSP00000327608		X6R4H8	UPI00001D8216	NM_213604.2			2/12		Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	2			1										PASS		rs1264249475	.												A	2	1	80	1510911	1510911	G	A	1	0	0	0	0	0	0	0	1	322	1252	44	3		3	ADAMTSL5	19	1510911	Silent	SNP	G	C3N-01488_TP	393470	1510911	57106705	509	26473											
KLF16	0	.	GRCh38	chr19	1854486	1854486	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgggggctgggctgggCgcggggctgggcgcagggct	1	5	24	11	4	0	0	0	0	0	0	0	0	0	0	1	8	1	5	1	8	0	0	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.732G>T	p.=	p.A244A	ENST00000250916	2/2	50	46	4	78	78	0	varscan-mutect	KLF16,synonymous_variant,p.=,ENST00000250916,NM_031918.3;KLF16,synonymous_variant,p.=,ENST00000617223,;KLF16,synonymous_variant,p.=,ENST00000592313,;CTB-31O20.6,downstream_gene_variant,,ENST00000592884,;KLF16,synonymous_variant,p.=,ENST00000541015,;	A	ENST00000250916	Transcript	synonymous_variant	803/2890	732/759	244/252	A	gcG/gcT		1		-1	KLF16	HGNC	HGNC:16857	protein_coding	YES	CCDS12075.1	ENSP00000250916	Q9BXK1		UPI0000126B0D	NM_031918.3			2/2		Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		rs971035483	.												A	2	1	80	1854486	1854486	C	A	1	0	0	0	0	0	0	0	1	8209	755	27	1		1	KLF16	19	1854486	Silent	SNP	C	C3N-01488_TP	343575	1854486	56763130	510	26474											
AP3D1	0	.	GRCh38	chr19	2111287	2111287	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagcggctgccactcaccaTtttaacataggaattttcag	11	11	9	10	1	2	0	2	0	0	0	2	2	2	2	2	3	3	1	2	3	3	5	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.2983A>G	p.Met995Val	p.M995V	ENST00000355272	26/32	180	145	35	206	206	0	strelka-varscan-mutect	AP3D1,missense_variant,p.Met995Val,ENST00000355272,NM_001261826.1;AP3D1,missense_variant,p.Met933Val,ENST00000345016,NM_003938.6;AP3D1,upstream_gene_variant,,ENST00000586370,;AP3D1,upstream_gene_variant,,ENST00000589369,;AP3D1,downstream_gene_variant,,ENST00000591631,;AP3D1,splice_region_variant,,ENST00000591650,;AP3D1,non_coding_transcript_exon_variant,,ENST00000585652,;AP3D1,non_coding_transcript_exon_variant,,ENST00000589223,;AP3D1,downstream_gene_variant,,ENST00000592488,;	C	ENST00000355272	Transcript	missense_variant,splice_region_variant	3190/5034	2983/3648	995/1215	M/V	Atg/Gtg		1		-1	AP3D1	HGNC	HGNC:568	protein_coding	YES	CCDS58638.1	ENSP00000347416	O14617		UPI0000202F99	NM_001261826.1	tolerated(0.28)		26/32		hmmpanther:PTHR22781																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	80	2111287	2111287	T	C	1	0	0	0	0	1	0	0	0	862	1507	52	5		5	AP3D1	19	2111287	Missense_Mutation	SNP	T	C3N-01488_TP	256801	2111287	56506329	511	26475											
ATCAY	0	.	GRCh38	chr19	3907790	3907790	+	Frame_Shift_Del	DEL	G	G	-																															gggacagcgcggatctatttGgggacggcacgacggaggac																								rs761078143		C3N-01488_TP	C3N-01488_NB	G	G																c.418delG	p.Asp140ThrfsTer18	p.D140Tfs*18	ENST00000450849	5/13	516	311	205	594	592	2	sindel-varindel-pindel	ATCAY,frameshift_variant,p.Asp140ThrfsTer18,ENST00000450849,NM_033064.4;ATCAY,frameshift_variant,p.Asp140ThrfsTer18,ENST00000600960,;ATCAY,downstream_gene_variant,,ENST00000598136,;ATCAY,3_prime_UTR_variant,,ENST00000597739,;	-	ENST00000450849	Transcript	frameshift_variant	882/5070	415/1116	139/371	G/X	Ggg/gg	rs761078143	1		1	ATCAY	HGNC	HGNC:779	protein_coding	YES	CCDS45923.1	ENSP00000390941	Q86WG3	A0A0S2Z5T8	UPI000006DE3B	NM_033064.4			5/13		Pfam_domain:PF12496,hmmpanther:PTHR12112,hmmpanther:PTHR12112:SF9																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	80	3907790	3907790	G	-	1	0	1	0	1	0	0	0	0	1226	1348	47	0		0	ATCAY	19	3907790	Frame_Shift_Del	DEL	G	C3N-01488_TP	1796503	3907790	54709826	512	26476											
OR2Z1	0	.	GRCh38	chr19	8731102	8731102	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcactcaggatcacgccAgctcctcttctccctggtgg	6	10	9	16	1	5	0	3	0	2	0	7	1	6	1	3	3	1	1	3	3	0	1	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.74A>T	p.Gln25Leu	p.Q25L	ENST00000324060	1/1	342	316	26	390	390	0	strelka-varscan-mutect	OR2Z1,missense_variant,p.Gln25Leu,ENST00000324060,NM_001004699.2;RPL23AP78,upstream_gene_variant,,ENST00000599928,;	T	ENST00000324060	Transcript	missense_variant	149/1056	74/945	25/314	Q/L	cAg/cTg		1		1	OR2Z1	HGNC	HGNC:15391	protein_coding	YES	CCDS32895.1	ENSP00000316284	Q8NG97	A0A126GVT8	UPI000003F225	NM_001004699.2	tolerated(0.98)		1/1		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF96,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	80	8731102	8731102	A	T	1	0	0	0	0	1	0	0	0	11113	188	7	4		4	OR2Z1	19	8731102	Missense_Mutation	SNP	A	C3N-01488_TP	4823312	8731102	49886514	513	26477											
MUC16	0	.	GRCh38	chr19	8945898	8945898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggctcgtggaactccagtgGtggcaaatgaagtcatggcc	9	9	14	9	1	1	1	1	1	0	0	3	2	2	2	2	5	1	2	2	5	3	0	rs749147041		C3N-01488_TP	C3N-01488_NB	G	G																c.30872C>A	p.Thr10291Asn	p.T10291N	ENST00000397910	3/84	81	54	27	103	102	1	strelka-varscan-mutect	MUC16,missense_variant,p.Thr10291Asn,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	31076/43816	30872/43524	10291/14507	T/N	aCc/aAc	rs749147041,COSM3542138,COSM3542139	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84													0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs749147041	.												T	3	4	80	8945898	8945898	G	T	1	0	0	0	0	1	0	0	0	9972	1261	44	2		2	MUC16	19	8945898	Missense_Mutation	SNP	G	C3N-01488_TP	214796	8945898	49671718	514	26478											
MUC16	0	.	GRCh38	chr19	8947546	8947546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctagtaatgtggaggacaCaggagaaagtgaggtcgtga	13	8	16	4	1	1	3	0	2	1	1	2	6	1	5	0	4	0	1	0	4	3	2	rs765870616		C3N-01488_TP	C3N-01488_NB	C	C																c.29224G>T	p.Val9742Leu	p.V9742L	ENST00000397910	3/84	200	133	67	274	273	1	strelka-varscan-mutect	MUC16,missense_variant,p.Val9742Leu,ENST00000397910,NM_024690.2;	A	ENST00000397910	Transcript	missense_variant	29428/43816	29224/43524	9742/14507	V/L	Gtg/Ttg	rs765870616	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs765870616	.												A	3	1	80	8947546	8947546	C	A	1	0	0	0	0	1	0	0	0	9972	478	17	2		2	MUC16	19	8947546	Missense_Mutation	SNP	C	C3N-01488_TP	1648	8947546	49670070	515	26479											
COL5A3	0	.	GRCh38	chr19	9977266	9977266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttactccccttgtgtccgGgggcacccacatccccctgc	4	10	8	19	1	0	0	0	0	0	0	3	0	3	0	6	2	2	1	6	2	1	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.3251C>A	p.Pro1084His	p.P1084H	ENST00000264828	44/67	245	171	74	240	240	0	strelka-varscan-mutect	COL5A3,missense_variant,p.Pro1084His,ENST00000264828,NM_015719.3;	T	ENST00000264828	Transcript	missense_variant	3337/6174	3251/5238	1084/1745	P/H	cCc/cAc		1		-1	COL5A3	HGNC	HGNC:14864	protein_coding	YES	CCDS12222.1	ENSP00000264828	P25940		UPI00002032A3	NM_015719.3	deleterious(0.03)		44/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF516																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	9977266	9977266	G	T	1	0	0	0	0	1	0	0	0	3487	1232	43	2		2	COL5A3	19	9977266	Missense_Mutation	SNP	G	C3N-01488_TP	1029720	9977266	48640350	516	26480											
ICAM5	0	.	GRCh38	chr19	10291303	10291303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcttccgctgcgcgcGgcgcacactacaggcgcgtg	4	8	13	16	7	1	0	0	0	1	0	2	0	2	0	1	2	3	3	1	2	1	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.314G>T	p.Arg105Leu	p.R105L	ENST00000221980	2/11	192	174	18	207	205	2	strelka-varscan-mutect	ICAM5,missense_variant,p.Arg105Leu,ENST00000221980,NM_003259.3;ICAM5,5_prime_UTR_variant,,ENST00000587398,;ICAM1,downstream_gene_variant,,ENST00000264832,NM_000201.2;ICAM4,downstream_gene_variant,,ENST00000393717,NM_022377.3;ICAM4,downstream_gene_variant,,ENST00000380770,NM_001544.4;ICAM4,downstream_gene_variant,,ENST00000340992,NM_001039132.2;CTD-2369P2.8,upstream_gene_variant,,ENST00000589379,;ICAM5,non_coding_transcript_exon_variant,,ENST00000586004,;ICAM5,upstream_gene_variant,,ENST00000586480,;ICAM5,downstream_gene_variant,,ENST00000588912,;	T	ENST00000221980	Transcript	missense_variant	377/3000	314/2775	105/924	R/L	cGg/cTg		1		1	ICAM5	HGNC	HGNC:5348	protein_coding	YES	CCDS12233.1	ENSP00000221980	Q9UMF0		UPI000013C7E4	NM_003259.3	tolerated(0.24)		2/11		Gene3D:2.60.40.10,Pfam_domain:PF03921,hmmpanther:PTHR13771,hmmpanther:PTHR13771:SF9,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1184663874	.												T	3	4	80	10291303	10291303	G	T	1	0	0	0	0	1	0	0	0	7383	1116	39	1		1	ICAM5	19	10291303	Missense_Mutation	SNP	G	C3N-01488_TP	314037	10291303	48326313	517	26481											
CACNA1A	0	.	GRCh38	chr19	13214303	13214303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccatgatcatcatggctGcgtagatcttccccacggtg	8	11	9	13	2	3	2	2	1	1	1	5	2	5	2	3	2	1	2	3	2	1	2	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.5870C>A	p.Ala1957Glu	p.A1957E	ENST00000360228	40/47	313	232	81	363	363	0	strelka-varscan-mutect	CACNA1A,missense_variant,p.Ala1958Glu,ENST00000638009,NM_001127221.1;CACNA1A,missense_variant,p.Ala1958Glu,ENST00000635895,;CACNA1A,missense_variant,p.Ala1958Glu,ENST00000637769,;CACNA1A,missense_variant,p.Ala1957Glu,ENST00000360228,NM_001127222.1;CACNA1A,missense_variant,p.Ala1963Glu,ENST00000614285,;CACNA1A,missense_variant,p.Ala1911Glu,ENST00000637736,;CACNA1A,missense_variant,p.Ala1958Glu,ENST00000636389,;CACNA1A,missense_variant,p.Ala1963Glu,ENST00000638029,NM_023035.2;CACNA1A,missense_variant,p.Ala1963Glu,ENST00000637432,NM_000068.3;CACNA1A,missense_variant,p.Ala1959Glu,ENST00000573710,;CACNA1A,missense_variant,p.Ala1958Glu,ENST00000635727,;CACNA1A,missense_variant,p.Ala1958Glu,ENST00000636012,;CACNA1A,missense_variant,p.Ala1958Glu,ENST00000637276,;CACNA1A,missense_variant,p.Ala1959Glu,ENST00000637927,;CACNA1A,missense_variant,p.Ala1960Glu,ENST00000636549,NM_001174080.1;CACNA1A,missense_variant,p.Ala444Glu,ENST00000587525,;CACNA1A,missense_variant,p.Ala344Glu,ENST00000585802,;CACNA1A,missense_variant,p.Ala247Glu,ENST00000636473,;CACNA1A,missense_variant,p.Ala425Glu,ENST00000637819,;CACNA1A,3_prime_UTR_variant,,ENST00000636768,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000636610,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000635988,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000636074,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000638114,;CACNA1A,downstream_gene_variant,,ENST00000586190,;	T	ENST00000360228	Transcript	missense_variant	6105/8627	5870/7521	1957/2506	A/E	gCa/gAa		1		-1	CACNA1A	HGNC	HGNC:1388	protein_coding	YES	CCDS45998.1	ENSP00000353362	O00555		UPI0000141565	NM_001127222.1	deleterious(0.01)		40/47		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Pfam_domain:PF08763,SMART_domains:SM01062																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	13214303	13214303	G	T	1	0	0	0	0	1	0	0	0	2226	1319	46	2		2	CACNA1A	19	13214303	Missense_Mutation	SNP	G	C3N-01488_TP	2923000	13214303	45403313	518	26482											
NOTCH3	0	.	GRCh38	chr19	15170344	15170344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcacttcatgcccagcgCgtcctggcccacgggttccc	4	10	9	18	3	2	0	2	0	1	0	5	0	4	0	4	2	2	1	4	2	0	3			C3N-01488_TP	C3N-01488_NB	C	C																c.5101G>T	p.Ala1701Ser	p.A1701S	ENST00000263388	27/33	293	191	102	285	285	0	strelka-varscan-mutect	NOTCH3,missense_variant,p.Ala1701Ser,ENST00000263388,NM_000435.2;NOTCH3,upstream_gene_variant,,ENST00000597756,;NOTCH3,upstream_gene_variant,,ENST00000595514,;	A	ENST00000263388	Transcript	missense_variant	5177/8666	5101/6966	1701/2321	A/S	Gcg/Tcg	COSM5454696,COSM5454697	1		-1	NOTCH3	HGNC	HGNC:7883	protein_coding	YES	CCDS12326.1	ENSP00000263388	Q9UM47		UPI000013D3FA	NM_000435.2	tolerated(0.84)		27/33		hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF57											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	80	15170344	15170344	C	A	1	0	0	0	0	1	0	0	0	10595	768	27	1		1	NOTCH3	19	15170344	Missense_Mutation	SNP	C	C3N-01488_TP	1956041	15170344	43447272	519	26483											
TMEM59L	0	.	GRCh38	chr19	18617069	18617069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggaggtgacctggcgaGgctcccaccctgaagccctg	6	6	15	14	2	0	2	0	2	0	0	1	4	1	3	4	4	1	1	4	4	1	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.631G>T	p.Gly211Cys	p.G211C	ENST00000600490	6/9	231	142	89	234	234	0	strelka-varscan-mutect	TMEM59L,missense_variant,p.Gly211Cys,ENST00000600490,;TMEM59L,missense_variant,p.Gly211Cys,ENST00000262817,NM_012109.2;TMEM59L,missense_variant,p.Gly75Cys,ENST00000594709,;TMEM59L,non_coding_transcript_exon_variant,,ENST00000598660,;TMEM59L,non_coding_transcript_exon_variant,,ENST00000594859,;	T	ENST00000600490	Transcript	missense_variant	816/1717	631/1029	211/342	G/C	Ggc/Tgc		1		1	TMEM59L	HGNC	HGNC:13237	protein_coding	YES	CCDS12383.1	ENSP00000470879	Q9UK28	A0A024R7L4	UPI0000034024		deleterious(0.03)		6/9		hmmpanther:PTHR28652:SF1,hmmpanther:PTHR28652,Pfam_domain:PF12280																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	80	18617069	18617069	G	T	1	0	0	0	0	1	0	0	0	16662	1000	35	2		2	TMEM59L	19	18617069	Missense_Mutation	SNP	G	C3N-01488_TP	3446725	18617069	40000547	520	26484											
ZNF729	0	.	GRCh38	chr19	22316927	22316927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatgtggcaaagcctttaaCcagtcctcacaccttactag	12	10	7	12	0	1	0	1	0	0	0	2	1	2	0	4	1	3	1	4	1	5	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.3510C>A	p.Asn1170Lys	p.N1170K	ENST00000601693	4/4	348	216	132	554	554	0	strelka-varscan-mutect	ZNF729,missense_variant,p.Asn1170Lys,ENST00000601693,NM_001242680.1;	A	ENST00000601693	Transcript	missense_variant	3628/3877	3510/3759	1170/1252	N/K	aaC/aaA		1		1	ZNF729	HGNC	HGNC:32464	protein_coding	YES	CCDS59368.1	ENSP00000469582	A6NN14		UPI000042600C	NM_001242680.1	tolerated(0.67)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		rs1248180516	.												A	3	1	80	22316927	22316927	C	A	1	0	0	0	0	1	0	0	0	18703	506	18	2		2	ZNF729	19	22316927	Missense_Mutation	SNP	C	C3N-01488_TP	3699858	22316927	36300689	521	26485											
ZNF98	0	.	GRCh38	chr19	22422214	22422214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatttctaggcttccaaggGgtcctggcatcttagctgtg	6	13	11	11	0	2	0	0	0	2	0	4	0	4	0	3	4	1	3	3	4	3	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.11C>A	p.Pro4His	p.P4H	ENST00000357774	1/4	314	211	103	414	414	0	strelka-varscan-mutect	ZNF98,missense_variant,p.Pro4His,ENST00000357774,NM_001098626.1;ZNF98,missense_variant,p.Pro4His,ENST00000601553,;ZNF98,intron_variant,,ENST00000593657,;ZNF98,intron_variant,,ENST00000593802,;AC011516.1,upstream_gene_variant,,ENST00000599129,;	T	ENST00000357774	Transcript	missense_variant	133/2338	11/1719	4/572	P/H	cCc/cAc		1		-1	ZNF98	HGNC	HGNC:13174	protein_coding	YES	CCDS46031.1	ENSP00000350418	A6NK75		UPI0000251DC5	NM_001098626.1	tolerated_low_confidence(0.19)		1/4																			MODERATE	1	SNV	3			1										PASS		rs1232951359	.												T	3	4	80	22422214	22422214	G	T	1	0	0	0	0	1	0	0	0	18796	1232	43	2		2	ZNF98	19	22422214	Missense_Mutation	SNP	G	C3N-01488_TP	105287	22422214	36195402	522	26486											
ZNF536	0	.	GRCh38	chr19	30548245	30548245	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcggggcaggccacgggcAtgtcttcggaggtcccctca	6	7	14	14	3	2	0	1	0	1	0	5	1	3	1	3	6	0	2	3	6	0	1	rs779112682		C3N-01488_TP	C3N-01488_NB	A	A																c.2626A>T	p.Met876Leu	p.M876L	ENST00000355537	4/5	155	141	14	214	214	0	strelka-varscan-mutect	ZNF536,missense_variant,p.Met876Leu,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.Met876Leu,ENST00000585628,;ZNF536,upstream_gene_variant,,ENST00000592773,;	T	ENST00000355537	Transcript	missense_variant	2773/4945	2626/3903	876/1300	M/L	Atg/Ttg	rs779112682	1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1	tolerated(0.66)		4/5		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5																	MODERATE	1	SNV	1			1										PASS		rs779112682	.												T	3	4	80	30548245	30548245	A	T	1	0	0	0	0	1	0	0	0	18547	217	8	4		4	ZNF536	19	30548245	Missense_Mutation	SNP	A	C3N-01488_TP	8126031	30548245	28069371	523	26487											
PEPD	0	.	GRCh38	chr19	33413599	33413599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcagatgcaggtgtaggagCtgtggcgcatgccgccccgg	6	6	17	12	4	0	1	0	0	0	1	0	2	0	2	3	4	3	5	3	4	1	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.716G>A	p.Ser239Asn	p.S239N	ENST00000244137	10/15	312	260	52	294	294	0	strelka-varscan-mutect	PEPD,missense_variant,p.Ser239Asn,ENST00000244137,NM_000285.3;PEPD,missense_variant,p.Ser198Asn,ENST00000397032,NM_001166056.1;PEPD,missense_variant,p.Ser175Asn,ENST00000436370,NM_001166057.1;PEPD,missense_variant,p.Ser70Asn,ENST00000588328,;PEPD,missense_variant,p.Ser50Asn,ENST00000609145,;PEPD,non_coding_transcript_exon_variant,,ENST00000590731,;PEPD,non_coding_transcript_exon_variant,,ENST00000588719,;PEPD,non_coding_transcript_exon_variant,,ENST00000593163,;	T	ENST00000244137	Transcript	missense_variant	750/1910	716/1482	239/493	S/N	aGc/aAc		1		-1	PEPD	HGNC	HGNC:8840	protein_coding	YES	CCDS42544.1	ENSP00000244137	P12955	A0A140VJR2	UPI000006F8BF	NM_000285.3	tolerated(0.17)		10/15		hmmpanther:PTHR10804,hmmpanther:PTHR10804:SF100,Pfam_domain:PF00557,Gene3D:3.90.230.10,Superfamily_domains:SSF55920																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	33413599	33413599	C	T	1	0	0	0	0	1	0	0	0	11816	797	28	3		3	PEPD	19	33413599	Missense_Mutation	SNP	C	C3N-01488_TP	2865354	33413599	25204017	524	26488											
KMT2B	0	.	GRCh38	chr19	35720951	35720951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgcctgtggtgagtgcccGctcctcccgtgtcatcaaga	6	11	11	13	2	2	2	2	1	0	1	4	2	4	2	4	1	2	1	4	1	2	1	rs527331134		C3N-01488_TP	C3N-01488_NB	G	G																c.1604G>T	p.Arg535Leu	p.R535L	ENST00000420124	3/37	206	181	25	265	265	0	strelka-varscan-mutect	KMT2B,missense_variant,p.Arg535Leu,ENST00000420124,NM_014727.2;ZBTB32,downstream_gene_variant,,ENST00000392197,;ZBTB32,downstream_gene_variant,,ENST00000262630,NM_014383.1;ZBTB32,downstream_gene_variant,,ENST00000426659,;KMT2B,intron_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000481182,;	T	ENST00000420124	Transcript	missense_variant	1604/8469	1604/8148	535/2715	R/L	cGc/cTc	rs527331134	1		1	KMT2B	HGNC	HGNC:15840	protein_coding	YES	CCDS46055.1	ENSP00000398837	Q9UMN6		UPI00001376B5	NM_014727.2	deleterious(0.05)		3/37																			MODERATE	1	SNV	1			1										PASS		rs527331134	.												T	3	4	80	35720951	35720951	G	T	1	0	0	0	0	1	0	0	0	8296	1087	38	1		1	KMT2B	19	35720951	Missense_Mutation	SNP	G	C3N-01488_TP	2307352	35720951	22896665	525	26489											
SPTBN4	0	.	GRCh38	chr19	40556167	40556167	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagcgccgggtggctcTggaacagcagtactggctgt	7	8	17	9	2	1	1	0	1	1	0	1	3	1	3	1	5	4	4	1	5	2	1	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.5168T>C	p.Leu1723Pro	p.L1723P	ENST00000352632	25/36	136	124	12	169	169	0	strelka-mutect	SPTBN4,missense_variant,p.Leu1723Pro,ENST00000338932,;SPTBN4,missense_variant,p.Leu1723Pro,ENST00000352632,;SPTBN4,missense_variant,p.Leu1723Pro,ENST00000392025,;SPTBN4,missense_variant,p.Leu1723Pro,ENST00000598249,NM_020971.2;SPTBN4,missense_variant,p.Leu1723Pro,ENST00000595535,;SPTBN4,missense_variant,p.Leu399Pro,ENST00000392023,NM_025213.2;SPTBN4,3_prime_UTR_variant,,ENST00000597389,;SPTBN4,downstream_gene_variant,,ENST00000596900,;	C	ENST00000352632	Transcript	missense_variant	5254/8676	5168/7695	1723/2564	L/P	cTg/cCg		1		1	SPTBN4	HGNC	HGNC:14896	protein_coding	YES	CCDS12559.1	ENSP00000263373	Q9H254		UPI0000135DBB		deleterious(0)		25/36		Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF232,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	80	40556167	40556167	T	C	1	0	0	0	0	1	0	0	0	15477	1580	55	5		5	SPTBN4	19	40556167	Missense_Mutation	SNP	T	C3N-01488_TP	4835216	40556167	18061449	526	26490											
CYP2F1	0	.	GRCh38	chr19	41127957	41127957	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctctttctgtacctcAccgccatcctgcagagcttt	6	13	8	14	1	3	1	1	0	2	1	4	2	4	2	4	1	4	4	4	1	1	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.1351A>T	p.Thr451Ser	p.T451S	ENST00000331105	10/10	123	113	10	174	173	1	varscan-mutect	CYP2F1,missense_variant,p.Thr451Ser,ENST00000331105,NM_000774.3;CYP2F1,3_prime_UTR_variant,,ENST00000439903,;CYP2F1,3_prime_UTR_variant,,ENST00000532164,;CYP2F1,downstream_gene_variant,,ENST00000531409,;CYP2F1,downstream_gene_variant,,ENST00000526093,;CYP2F1,downstream_gene_variant,,ENST00000534009,;	T	ENST00000331105	Transcript	missense_variant	1423/1720	1351/1476	451/491	T/S	Acc/Tcc		1		1	CYP2F1	HGNC	HGNC:2632	protein_coding	YES	CCDS12572.1	ENSP00000333534	P24903		UPI000013C622	NM_000774.3	tolerated(0.05)		10/10		hmmpanther:PTHR24300:SF163,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	41127957	41127957	A	T	1	0	0	0	0	1	0	0	0	3974	159	6	4		4	CYP2F1	19	41127957	Missense_Mutation	SNP	A	C3N-01488_TP	571790	41127957	17489659	527	26491											
HIF3A	0	.	GRCh38	chr19	46312601	46312601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaggccacagtggtgtcaGggggacggggcccccagtcg	6	4	17	14	2	1	0	1	0	0	0	2	1	1	1	4	6	0	0	4	6	0	0	rs747603903		C3N-01488_TP	C3N-01488_NB	G	G																c.973G>A	p.Gly325Arg	p.G325R	ENST00000377670	8/15	65	48	17	98	98	0	strelka-varscan-mutect	HIF3A,missense_variant,p.Gly325Arg,ENST00000377670,NM_152795.3;HIF3A,missense_variant,p.Gly323Arg,ENST00000300862,NM_152794.3;HIF3A,missense_variant,p.Gly256Arg,ENST00000244303,NM_022462.4;HIF3A,missense_variant,p.Gly256Arg,ENST00000600383,;HIF3A,missense_variant,p.Gly256Arg,ENST00000472815,NM_152796.2;HIF3A,downstream_gene_variant,,ENST00000533145,;HIF3A,downstream_gene_variant,,ENST00000525854,;HIF3A,3_prime_UTR_variant,,ENST00000528563,;HIF3A,3_prime_UTR_variant,,ENST00000531043,;HIF3A,non_coding_transcript_exon_variant,,ENST00000244302,;HIF3A,non_coding_transcript_exon_variant,,ENST00000291300,;HIF3A,non_coding_transcript_exon_variant,,ENST00000475432,;HIF3A,downstream_gene_variant,,ENST00000600879,;HIF3A,downstream_gene_variant,,ENST00000533789,;HIF3A,downstream_gene_variant,,ENST00000529205,;HIF3A,downstream_gene_variant,,ENST00000526506,;	A	ENST00000377670	Transcript	missense_variant	1004/5852	973/2010	325/669	G/R	Ggg/Agg	rs747603903,COSM296914	1		1	HIF3A	HGNC	HGNC:15825	protein_coding	YES	CCDS12681.2	ENSP00000366898	Q9Y2N7		UPI00002026E2	NM_152795.3	deleterious(0.01)		8/15		hmmpanther:PTHR23043:SF18,hmmpanther:PTHR23043,Gene3D:3.30.450.20,Pfam_domain:PF14598,SMART_domains:SM00086,Superfamily_domains:SSF55785											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs747603903	.												A	3	1	80	46312601	46312601	G	A	1	0	0	0	0	1	0	0	0	6990	1000	35	3		3	HIF3A	19	46312601	Missense_Mutation	SNP	G	C3N-01488_TP	5184644	46312601	12305015	528	26492											
PPP5D1	0	.	GRCh38	chr19	46526988	46526988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcgcctgcgatggcccGctcaaaggccttctgcttca	5	10	10	16	4	3	0	2	0	1	0	5	1	3	0	3	2	2	2	3	2	1	2	rs754415342		C3N-01488_TP	C3N-01488_NB	G	G																c.135C>T	p.Arg46Trp	p.R46W	ENST00000602017	2/4	243	223	20	271	270	1	varscan-mutect	PPP5D1,missense_variant,p.Arg58Trp,ENST00000414155,;PPP5D1,missense_variant,p.Arg46Trp,ENST00000602017,NM_001205281.1;PPP5D1,missense_variant,p.Arg46Trp,ENST00000593359,;	A	ENST00000602017	Transcript	missense_variant	135/965	136/378	46/125	R/W	Cgg/Tgg	rs754415342,COSM3105494,COSM3105495	1		-1	PPP5D1	HGNC	HGNC:44209	protein_coding	YES		ENSP00000471730		M0R196	UPI0002A471E1	NM_001205281.1	deleterious(0)		2/4		Pfam_domain:PF08321											0,1,1						MODERATE	1	SNV	3		0,1,1	1										PASS		rs754415342	.												A	3	1	80	46526988	46526988	G	A	1	0	0	0	0	1	0	0	0	12532	1086	38	1		1	PPP5D1	19	46526988	Missense_Mutation	SNP	G	C3N-01488_TP	214387	46526988	12090628	529	26493											
MYH14	0	.	GRCh38	chr19	50257359	50257359	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacggcccaccaggtggccGcccccgtcggggtatgttcc	4	6	14	17	5	0	0	0	0	0	0	2	1	1	0	6	5	0	2	6	5	1	2	rs775328084		C3N-01488_TP	C3N-01488_NB	G	G																c.2105G>C	p.Arg702Pro	p.R702P	ENST00000601313	18/43	115	94	21	142	142	0	strelka-varscan-mutect	MYH14,missense_variant,p.Arg702Pro,ENST00000601313,NM_001145809.1;MYH14,missense_variant,p.Arg669Pro,ENST00000425460,NM_001077186.1;MYH14,missense_variant,p.Arg661Pro,ENST00000376970,NM_024729.3;MYH14,missense_variant,p.Arg669Pro,ENST00000598205,;MYH14,missense_variant,p.Arg661Pro,ENST00000596571,;MYH14,missense_variant,p.Arg669Pro,ENST00000599920,;MYH14,intron_variant,,ENST00000440075,;Metazoa_SRP,upstream_gene_variant,,ENST00000622099,;	C	ENST00000601313	Transcript	missense_variant	2135/6896	2105/6111	702/2036	R/P	cGc/cCc	rs775328084,COSM3960307,COSM3960308,COSM3960309	1		1	MYH14	HGNC	HGNC:23212	protein_coding	YES	CCDS54295.1	ENSP00000470298	Q7Z406		UPI0001641C2F	NM_001145809.1	deleterious(0.02)		18/43		Low_complexity_(Seg):seg,PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF462,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs775328084	.												C	3	2	80	50257359	50257359	G	C	1	0	0	0	0	1	0	0	0	10033	1087	38	4		4	MYH14	19	50257359	Missense_Mutation	SNP	G	C3N-01488_TP	3730371	50257359	8360257	530	26494											
LRRC4B	0	.	GRCh38	chr19	50519062	50519062	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggggatgtccttgaggttGcacatgcccaggttgaggta	7	12	15	7	0	0	2	0	2	0	0	1	3	1	3	2	5	2	4	2	5	1	5	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.651C>A	p.Cys217Ter	p.C217*	ENST00000599957	3/3	279	253	26	378	378	0	strelka-varscan-mutect	LRRC4B,stop_gained,p.Cys217Ter,ENST00000599957,;LRRC4B,stop_gained,p.Cys217Ter,ENST00000389201,NM_001080457.1;LRRC4B,stop_gained,p.Cys217Ter,ENST00000600381,;ASPDH,upstream_gene_variant,,ENST00000376916,NM_001024656.2;ASPDH,upstream_gene_variant,,ENST00000601207,;ASPDH,upstream_gene_variant,,ENST00000598657,;ASPDH,upstream_gene_variant,,ENST00000597030,;ASPDH,upstream_gene_variant,,ENST00000601287,;ASPDH,upstream_gene_variant,,ENST00000593569,;	T	ENST00000599957	Transcript	stop_gained	849/3019	651/2142	217/713	C/*	tgC/tgA		1		-1	LRRC4B	HGNC	HGNC:25042	protein_coding	YES	CCDS42595.1	ENSP00000471502	Q9NT99	A0A024R4I8	UPI00000497E7				3/3		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF66,SMART_domains:SM00369,Superfamily_domains:SSF52058																	HIGH	1	SNV	3			1										PASS		.	.												T	4	4	80	50519062	50519062	G	T	1	0	0	0	0	0	1	0	0	8902	1311	46	2		2	LRRC4B	19	50519062	Nonsense_Mutation	SNP	G	C3N-01488_TP	261703	50519062	8098554	531	26495											
LILRA1	0	.	GRCh38	chr19	54596476	54596476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcaccccagtgactccctgGagctcatggtctcaggtgag	7	9	11	14	0	3	2	3	2	1	0	5	3	4	3	3	3	1	1	3	3	0	0	rs777824206		C3N-01488_TP	C3N-01488_NB	G	G																c.1246G>C	p.Glu416Gln	p.E416Q	ENST00000251372	7/10	249	196	53	381	381	0	strelka-varscan-mutect	LILRA1,missense_variant,p.Glu416Gln,ENST00000251372,NM_006863.3;LILRA1,missense_variant,p.Glu416Gln,ENST00000618665,;LILRA1,intron_variant,,ENST00000453777,NM_001278318.1;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,;	C	ENST00000251372	Transcript	missense_variant	1428/1910	1246/1470	416/489	E/Q	Gag/Cag	rs777824206,COSM4523994	1		1	LILRA1	HGNC	HGNC:6602	protein_coding	YES	CCDS12901.1	ENSP00000251372	O75019		UPI0000034C00	NM_006863.3	tolerated(0.05)		7/10		Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF117,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs777824206	.												C	3	2	80	54596476	54596476	G	C	1	0	0	0	0	1	0	0	0	8693	1175	41	4		4	LILRA1	19	54596476	Missense_Mutation	SNP	G	C3N-01488_TP	4077414	54596476	4021140	532	26496											
KIR3DL1	0	.	GRCh38	chr19	54829444	54829444	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctcttctttctccttcatCtctggtgctccaacaaaaaa	9	15	3	14	0	5	0	1	0	4	0	9	0	7	0	3	1	2	1	3	1	4	3			C3N-01488_TP	C3N-01488_NB	C	C																c.1084C>G	p.Leu362Val	p.L362V	ENST00000391728	7/9	217	197	20	393	393	0	strelka-mutect	KIR3DL1,missense_variant,p.Leu362Val,ENST00000391728,NM_013289.2;KIR3DL1,missense_variant,p.Leu345Val,ENST00000326542,;KIR3DL1,missense_variant,p.Leu267Val,ENST00000358178,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DS4,upstream_gene_variant,,ENST00000339924,;KIR2DS4,upstream_gene_variant,,ENST00000391729,;	G	ENST00000391728	Transcript	missense_variant	1117/1871	1084/1335	362/444	L/V	Ctc/Gtc	COSM275749,COSM4901285	1		1	KIR3DL1	HGNC	HGNC:6338	protein_coding	YES	CCDS42621.1	ENSP00000375608	P43629	Q5UCE2	UPI000012DB24	NM_013289.2	tolerated(0.34)		7/9		Transmembrane_helices:TMhelix,hmmpanther:PTHR11738:SF121,hmmpanther:PTHR11738											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1379917357	.												G	3	3	80	54829444	54829444	C	G	1	0	0	0	0	1	0	0	0	8184	913	32	4		4	KIR3DL1	19	54829444	Missense_Mutation	SNP	C	C3N-01488_TP	232968	54829444	3788172	533	26497											
FAM71E2	0	.	GRCh38	chr19	55359314	55359314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagtgggggacacagcCttctggggaatggtaggtac	9	7	18	7	0	1	0	0	0	1	0	1	3	1	3	1	7	3	3	1	7	3	3			C3N-01488_TP	C3N-01488_NB	C	C																c.1554G>T	p.Lys518Asn	p.K518N	ENST00000424985	9/11	236	206	30	299	298	1	strelka-varscan-mutect	FAM71E2,missense_variant,p.Lys518Asn,ENST00000424985,NM_001145402.1;COX6B2,upstream_gene_variant,,ENST00000593184,;COX6B2,upstream_gene_variant,,ENST00000588572,;COX6B2,upstream_gene_variant,,ENST00000326529,NM_144613.4;COX6B2,upstream_gene_variant,,ENST00000590900,;COX6B2,upstream_gene_variant,,ENST00000589467,;CTD-2105E13.6,missense_variant,p.Lys68Asn,ENST00000591954,;FAM71E2,3_prime_UTR_variant,,ENST00000585734,;COX6B2,upstream_gene_variant,,ENST00000587854,;COX6B2,upstream_gene_variant,,ENST00000587357,;	A	ENST00000424985	Transcript	missense_variant	1748/3191	1554/2769	518/922	K/N	aaG/aaT	COSM5595796,COSM5595797	1		-1	FAM71E2	HGNC	HGNC:25278	protein_coding	YES		ENSP00000398617	Q8N5Q1		UPI0001949ABA	NM_001145402.1	deleterious(0.03)		9/11		hmmpanther:PTHR22574:SF12,hmmpanther:PTHR22574											1,1						MODERATE		SNV	5		1,1	1										PASS		rs918673377	.												A	3	1	80	55359314	55359314	C	A	1	0	0	0	0	1	0	0	0	5476	680	24	2		2	FAM71E2	19	55359314	Missense_Mutation	SNP	C	C3N-01488_TP	529870	55359314	3258302	534	26498											
NLRP4	0	.	GRCh38	chr19	55857754	55857754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctgtcactgagattcacCtatactttgaggaggaagtc	11	12	10	8	0	3	2	2	2	1	1	4	5	3	4	1	2	1	0	1	2	3	4	rs767957395		C3N-01488_TP	C3N-01488_NB	C	C																c.361C>A	p.Leu121Ile	p.L121I	ENST00000301295	3/10	279	244	35	418	417	1	strelka-varscan-mutect	NLRP4,missense_variant,p.Leu121Ile,ENST00000301295,NM_134444.4;NLRP4,missense_variant,p.Leu46Ile,ENST00000587891,;NLRP4,missense_variant,p.Leu121Ile,ENST00000587464,;NLRP4,upstream_gene_variant,,ENST00000589437,;	A	ENST00000301295	Transcript	missense_variant	783/3670	361/2985	121/994	L/I	Cta/Ata	rs767957395,COSM1647007,COSM5233551,COSM568022,COSM714566	1		1	NLRP4	HGNC	HGNC:22943	protein_coding	YES	CCDS12936.1	ENSP00000301295	Q96MN2		UPI000013E6FD	NM_134444.4	tolerated(0.13)		3/10		hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Gene3D:3.40.50.300,Superfamily_domains:SSF52540											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs767957395	.												A	3	1	80	55857754	55857754	C	A	1	0	0	0	0	1	0	0	0	10517	680	24	2		2	NLRP4	19	55857754	Missense_Mutation	SNP	C	C3N-01488_TP	498440	55857754	2759862	535	26499											
ZSCAN1	0	.	GRCh38	chr19	58037953	58037953	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaccgaagcccagcgtctGcgcttccggcagttccagta	8	7	11	15	4	1	0	0	0	1	0	3	2	3	0	4	1	3	4	4	1	2	3			C3N-01488_TP	C3N-01488_NB	G	G																c.117G>C	p.=	p.L39L	ENST00000282326	3/6	144	130	14	187	187	0	strelka-varscan-mutect	ZSCAN1,synonymous_variant,p.=,ENST00000282326,NM_182572.3;ZSCAN1,synonymous_variant,p.=,ENST00000391700,;ZSCAN1,synonymous_variant,p.=,ENST00000601162,;	C	ENST00000282326	Transcript	synonymous_variant	364/2054	117/1227	39/408	L	ctG/ctC	COSM4745389,COSM4745390	1		1	ZSCAN1	HGNC	HGNC:23712	protein_coding	YES	CCDS12969.1	ENSP00000282326	Q8NBB4		UPI000013DCD2	NM_182572.3			3/6		PROSITE_profiles:PS50804,hmmpanther:PTHR10032:SF187,hmmpanther:PTHR10032,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353											1,1						LOW	1	SNV	2		1,1	1										PASS		.	.												C	2	2	80	58037953	58037953	G	C	1	0	0	0	0	0	0	0	1	18820	1306	46	4		4	ZSCAN1	19	58037953	Silent	SNP	G	C3N-01488_TP	2180199	58037953	579663	536	26500											
SNPH	0	.	GRCh38	chr20	1297147	1297147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttcctgcctccaggcGcacctctccacctgtgagcg	4	11	8	18	2	3	1	0	1	3	0	6	1	5	1	6	1	2	1	6	1	0	2	rs567531133		C3N-01488_TP	C3N-01488_NB	G	G																c.53G>T	p.Arg18Leu	p.R18L	ENST00000381873	4/6	87	78	9	106	106	0	strelka-mutect	SNPH,missense_variant,p.Arg62Leu,ENST00000381867,NM_001318234.1;SNPH,missense_variant,p.Arg62Leu,ENST00000614659,;SNPH,missense_variant,p.Arg18Leu,ENST00000381873,NM_014723.2;RAD21L1,downstream_gene_variant,,ENST00000402452,;	T	ENST00000381873	Transcript	missense_variant,splice_region_variant	289/4995	53/1485	18/494	R/L	cGc/cTc	rs567531133,COSM722662,COSM722663	1		1	SNPH	HGNC	HGNC:15931	protein_coding	YES	CCDS13012.1	ENSP00000371297	O15079		UPI000007424E	NM_014723.2	deleterious(0)		4/6		Low_complexity_(Seg):seg,hmmpanther:PTHR16208:SF1,hmmpanther:PTHR16208											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs567531133	.												T	3	4	80	1297147	1297147	G	T	1	0	0	0	0	1	0	0	0	15170	1101	38	1		1	SNPH	20	1297147	Missense_Mutation	SNP	G	C3N-01488_TP		1297147	63147020	537	26501											
PDYN	0	.	GRCh38	chr20	1980406	1980406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactggcgccggagaaaacCgccatagcgcttctggttgt	9	8	13	11	4	1	1	0	0	1	1	1	3	1	1	3	3	3	2	3	3	4	3	rs763424462		C3N-01488_TP	C3N-01488_NB	C	C																c.682G>T	p.Gly228Cys	p.G228C	ENST00000539905	3/3	236	217	19	340	340	0	strelka-varscan-mutect	PDYN,missense_variant,p.Gly228Cys,ENST00000539905,NM_001190899.2;PDYN,missense_variant,p.Gly228Cys,ENST00000217305,NM_024411.4,NM_001190898.2;PDYN,missense_variant,p.Gly228Cys,ENST00000540134,NM_001190892.1,NM_001190900.1;RP4-684O24.5,intron_variant,,ENST00000446562,;	A	ENST00000539905	Transcript	missense_variant	1076/2725	682/765	228/254	G/C	Ggt/Tgt	rs763424462,COSM4096935	1		-1	PDYN	HGNC	HGNC:8820	protein_coding	YES	CCDS13023.1	ENSP00000440185	P01213		UPI000012FE6A	NM_001190899.2	deleterious(0)		3/3		hmmpanther:PTHR11438,hmmpanther:PTHR11438:SF4											0,1						MODERATE		SNV	4		0,1	1										PASS		rs763424462	.												A	3	1	80	1980406	1980406	C	A	1	0	0	0	0	1	0	0	0	11787	652	23	1		1	PDYN	20	1980406	Missense_Mutation	SNP	C	C3N-01488_TP	683259	1980406	62463761	538	26502											
ZNF343	0	.	GRCh38	chr20	2483561	2483561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcggccacactcaccaCacacataaggcttctctcca	11	7	5	18	1	2	0	1	0	1	0	5	0	3	0	4	2	1	1	4	2	1	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1523G>T	p.Cys508Phe	p.C508F	ENST00000612935	8/8	334	224	110	477	476	1	strelka-varscan-mutect	ZNF343,missense_variant,p.Cys508Phe,ENST00000612935,NM_001321803.1,NM_001321801.1,NM_001321802.1,NM_001282497.1;ZNF343,missense_variant,p.Cys467Phe,ENST00000278772,NM_001321805.1,NM_001321800.1,NM_001282496.1,NM_001282495.1,NM_024325.5;ZNF343,missense_variant,p.Cys377Phe,ENST00000617391,NM_001282498.1;ZNF343,downstream_gene_variant,,ENST00000445484,;ZNF343,non_coding_transcript_exon_variant,,ENST00000465019,;RP4-734P14.4,intron_variant,,ENST00000461548,;	A	ENST00000612935	Transcript	missense_variant	1937/3675	1523/1923	508/640	C/F	tGt/tTt		1		-1	ZNF343	HGNC	HGNC:16017	protein_coding	YES	CCDS74693.1	ENSP00000482819		A0A087WZQ2	UPI00002068B7	NM_001321803.1,NM_001321801.1,NM_001321802.1,NM_001282497.1	deleterious(0.01)		8/8		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF97,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	80	2483561	2483561	C	A	1	0	0	0	0	1	0	0	0	18430	478	17	2		2	ZNF343	20	2483561	Missense_Mutation	SNP	C	C3N-01488_TP	503155	2483561	61960606	539	26503											
TMC2	0	.	GRCh38	chr20	2536631	2536631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgaccatgagccacCaggtaaagggcctgaaagag	12	6	13	10	0	0	4	0	3	0	1	0	4	0	4	4	2	3	3	4	2	3	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.10C>A	p.Gln4Lys	p.Q4K	ENST00000358864	1/20	295	272	23	418	418	0	strelka-varscan-mutect	TMC2,missense_variant,p.Gln4Lys,ENST00000358864,NM_080751.2;	A	ENST00000358864	Transcript	missense_variant	25/3169	10/2721	4/906	Q/K	Cag/Aag		1		1	TMC2	HGNC	HGNC:16527	protein_coding	YES	CCDS13029.2	ENSP00000351732	Q8TDI7		UPI0000246C98	NM_080751.2	tolerated_low_confidence(0.16)		1/20																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	2536631	2536631	C	A	1	0	0	0	0	1	0	0	0	16431	595	21	2		2	TMC2	20	2536631	Missense_Mutation	SNP	C	C3N-01488_TP	53070	2536631	61907536	540	26504											
PCSK2	0	.	GRCh38	chr20	17429517	17429517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagtagcatacaactccaagGttgcaggtaagccatccctg	12	8	10	11	0	0	0	0	0	0	0	2	1	2	0	3	2	5	5	3	2	5	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.703G>T	p.Val235Phe	p.V235F	ENST00000262545	7/12	139	80	59	170	170	0	strelka-varscan-mutect	PCSK2,missense_variant,p.Val235Phe,ENST00000262545,NM_002594.4;PCSK2,missense_variant,p.Val216Phe,ENST00000377899,NM_001201528.1;PCSK2,missense_variant,p.Val200Phe,ENST00000536609,NM_001201529.2;	T	ENST00000262545	Transcript	missense_variant	1018/4740	703/1917	235/638	V/F	Gtt/Ttt		1		1	PCSK2	HGNC	HGNC:8744	protein_coding	YES	CCDS13125.1	ENSP00000262545	P16519		UPI0000000C6E	NM_002594.4	deleterious(0.01)		7/12		Gene3D:3.40.50.200,Pfam_domain:PF00082,hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF11,Superfamily_domains:SSF52743																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	17429517	17429517	G	T	1	0	0	0	0	1	0	0	0	11689	1261	44	2		2	PCSK2	20	17429517	Missense_Mutation	SNP	G	C3N-01488_TP	14892886	17429517	47014650	541	26505											
EMILIN3	0	.	GRCh38	chr20	41362075	41362075	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtacaaggggccgagcTgacctgcccggagaggcgct	7	6	16	12	3	1	2	0	1	1	1	1	4	1	2	3	4	3	3	3	4	2	1	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.1494A>T	p.=	p.S498S	ENST00000332312	4/4	78	60	18	97	97	0	strelka-varscan-mutect	EMILIN3,synonymous_variant,p.=,ENST00000332312,NM_052846.1;LPIN3,downstream_gene_variant,,ENST00000373257,;LPIN3,downstream_gene_variant,,ENST00000632009,NM_001301860.1;LPIN3,downstream_gene_variant,,ENST00000445975,;LPIN3,downstream_gene_variant,,ENST00000491528,;LPIN3,downstream_gene_variant,,ENST00000496565,;	A	ENST00000332312	Transcript	synonymous_variant	1687/3796	1494/2301	498/766	S	tcA/tcT		1		-1	EMILIN3	HGNC	HGNC:16123	protein_coding	YES	CCDS13316.1	ENSP00000332806	Q9NT22		UPI00001D82E8	NM_052846.1			4/4		hmmpanther:PTHR15427:SF2,hmmpanther:PTHR15427,PD968187																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	80	41362075	41362075	T	A	1	0	0	0	0	0	0	0	1	4938	1567	55	4		4	EMILIN3	20	41362075	Silent	SNP	T	C3N-01488_TP	23932558	41362075	23082092	542	26506											
KCNK15	0	.	GRCh38	chr20	44750778	44750778	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcttttcgcccccctcgagCccgggggtcgtgcgtggcgg	1	8	17	15	6	0	0	0	0	0	0	3	1	0	0	4	5	2	1	4	5	0	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.933C>G	p.Ser311Arg	p.S311R	ENST00000372861	2/2	101	90	11	112	112	0	strelka-varscan-mutect	KCNK15,missense_variant,p.Ser311Arg,ENST00000372861,NM_022358.3;RIMS4,downstream_gene_variant,,ENST00000372851,NM_182970.3;RP4-781B1.5,downstream_gene_variant,,ENST00000611368,;KCNK15-AS1,upstream_gene_variant,,ENST00000427303,;KCNK15-AS1,upstream_gene_variant,,ENST00000445420,;	G	ENST00000372861	Transcript	missense_variant	1064/2599	933/993	311/330	S/R	agC/agG		1		1	KCNK15	HGNC	HGNC:13814	protein_coding	YES	CCDS13337.1	ENSP00000361952	Q9H427		UPI000003EA1C	NM_022358.3	deleterious_low_confidence(0)		2/2		hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF18,Prints_domain:PR01690																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	44750778	44750778	C	G	1	0	0	0	0	1	0	0	0	7979	738	26	4		4	KCNK15	20	44750778	Missense_Mutation	SNP	C	C3N-01488_TP	3388703	44750778	19693389	543	26507											
TP53TG5	0	.	GRCh38	chr20	45375319	45375319	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcaagctatcatccctcGatgtccttggaacctcaggc	8	11	9	13	1	3	0	3	0	0	0	6	2	5	1	3	3	2	2	3	3	3	3	rs374959663		C3N-01488_TP	C3N-01488_NB	G	G																c.488C>A	p.Ser163Ter	p.S163*	ENST00000372726	4/5	551	520	31	658	656	2	strelka-varscan-mutect	TP53TG5,stop_gained,p.Ser163Ter,ENST00000372726,NM_014477.2;SYS1,3_prime_UTR_variant,,ENST00000426004,NM_001099791.2;SYS1-DBNDD2,intron_variant,,ENST00000475242,;TP53TG5,downstream_gene_variant,,ENST00000494455,;TP53TG5,downstream_gene_variant,,ENST00000488588,;SYS1-DBNDD2,intron_variant,,ENST00000419593,;SYS1-DBNDD2,intron_variant,,ENST00000452133,;SYS1-DBNDD2,intron_variant,,ENST00000458187,;	T	ENST00000372726	Transcript	stop_gained	645/2374	488/873	163/290	S/*	tCg/tAg	rs374959663	1		-1	TP53TG5	HGNC	HGNC:15856	protein_coding	YES	CCDS13352.1	ENSP00000361811	Q9Y2B4		UPI000000165C	NM_014477.2			4/5		hmmpanther:PTHR15562,hmmpanther:PTHR15562:SF0,Pfam_domain:PF15331																	HIGH	1	SNV	1			1										PASS		rs374959663	.												T	4	4	80	45375319	45375319	G	T	1	0	0	0	0	0	1	0	0	16870	1059	37	1		1	TP53TG5	20	45375319	Nonsense_Mutation	SNP	G	C3N-01488_TP	624541	45375319	19068848	544	26508											
ZNFX1	0	.	GRCh38	chr20	49247487	49247487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccattgcggcacttgaacCagtgaccacgaggataacct	11	7	11	12	2	0	2	0	2	0	0	0	4	0	3	4	3	3	1	4	3	2	3	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.5537G>T	p.Trp1846Leu	p.W1846L	ENST00000396105	14/14	201	167	34	225	224	1	strelka-varscan-mutect	ZNFX1,missense_variant,p.Trp1846Leu,ENST00000396105,NM_021035.2;ZNFX1,missense_variant,p.Trp1846Leu,ENST00000371752,;ZNFX1,intron_variant,,ENST00000371754,;DDX27,downstream_gene_variant,,ENST00000622530,NM_017895.7;DDX27,downstream_gene_variant,,ENST00000371764,;DDX27,downstream_gene_variant,,ENST00000618172,;ZNFX1,upstream_gene_variant,,ENST00000469991,;DDX27,downstream_gene_variant,,ENST00000484427,;DDX27,downstream_gene_variant,,ENST00000471144,;	A	ENST00000396105	Transcript	missense_variant	5784/7371	5537/5757	1846/1918	W/L	tGg/tTg		1		-1	ZNFX1	HGNC	HGNC:29271	protein_coding	YES	CCDS13417.1	ENSP00000379412	Q9P2E3		UPI000012DD83	NM_021035.2	deleterious(0)		14/14																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	49247487	49247487	C	A	1	0	0	0	0	1	0	0	0	18798	595	21	2		2	ZNFX1	20	49247487	Missense_Mutation	SNP	C	C3N-01488_TP	3872168	49247487	15196680	545	26509											
CTCFL	0	.	GRCh38	chr20	57498614	57498614	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccacttcctctttgactCtggctgtggtttctctgcag	4	16	8	13	0	3	1	0	1	3	0	6	1	5	1	2	2	1	3	2	2	0	3	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1928G>T	p.Arg643Ile	p.R643I	ENST00000423479	11/12	207	180	27	247	246	1	strelka-varscan-mutect	CTCFL,missense_variant,p.Arg643Ile,ENST00000608263,NM_001269041.1;CTCFL,missense_variant,p.Arg593Ile,ENST00000429804,NM_001269046.1;CTCFL,missense_variant,p.Arg643Ile,ENST00000609232,NM_080618.3;CTCFL,missense_variant,p.Arg643Ile,ENST00000243914,;CTCFL,missense_variant,p.Arg643Ile,ENST00000371196,NM_001269042.1,NM_001269040.1;CTCFL,missense_variant,p.Arg643Ile,ENST00000423479,NM_001269043.1;CTCFL,downstream_gene_variant,,ENST00000608440,NM_001269044.1;CTCFL,downstream_gene_variant,,ENST00000433949,NM_001269049.1;CTCFL,downstream_gene_variant,,ENST00000502686,NM_001269054.1;CTCFL,downstream_gene_variant,,ENST00000426658,;CTCFL,downstream_gene_variant,,ENST00000422109,;	A	ENST00000423479	Transcript	missense_variant	2019/2478	1928/2103	643/700	R/I	aGa/aTa		1		-1	CTCFL	HGNC	HGNC:16234	protein_coding	YES	CCDS58780.1	ENSP00000415579	Q8NI51		UPI000157860F	NM_001269043.1	tolerated(0.18)		11/12		hmmpanther:PTHR24375:SF96,hmmpanther:PTHR24375																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	57498614	57498614	C	A	1	0	0	0	0	1	0	0	0	3808	913	32	2		2	CTCFL	20	57498614	Missense_Mutation	SNP	C	C3N-01488_TP	8251127	57498614	6945553	546	26510											
COL9A3	0	.	GRCh38	chr20	62829793	62829793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcatgcctggggagcgcGgtgaggctggccaccggggc	4	5	20	12	3	0	1	0	1	0	0	0	2	0	2	3	8	2	2	3	8	0	0	rs201250184		C3N-01488_TP	C3N-01488_NB	G	G																c.1135G>C	p.Gly379Arg	p.G379R	ENST00000343916	22/32	348	285	63	400	400	0	strelka-varscan-mutect	COL9A3,missense_variant,p.Gly379Arg,ENST00000343916,NM_001853.3;COL9A3,downstream_gene_variant,,ENST00000452372,;COL9A3,upstream_gene_variant,,ENST00000462700,;COL9A3,downstream_gene_variant,,ENST00000489045,;COL9A3,downstream_gene_variant,,ENST00000463487,;COL9A3,downstream_gene_variant,,ENST00000477612,;COL9A3,upstream_gene_variant,,ENST00000466192,;COL9A3,upstream_gene_variant,,ENST00000472880,;COL9A3,upstream_gene_variant,,ENST00000469852,;COL9A3,upstream_gene_variant,,ENST00000469802,;COL9A3,upstream_gene_variant,,ENST00000481800,;COL9A3,upstream_gene_variant,,ENST00000490398,;	C	ENST00000343916	Transcript	missense_variant	1138/2485	1135/2055	379/684	G/R	Ggt/Cgt	rs201250184	1		1	COL9A3	HGNC	HGNC:2219	protein_coding	YES	CCDS13505.1	ENSP00000341640	Q14050		UPI0000126D51	NM_001853.3	deleterious(0)		22/32		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF529																	MODERATE	1	SNV	1			1										PASS		rs201250184	.												C	3	2	80	62829793	62829793	G	C	1	0	0	0	0	1	0	0	0	3498	1116	39	4		4	COL9A3	20	62829793	Missense_Mutation	SNP	G	C3N-01488_TP	5331179	62829793	1614374	547	26511											
CHRNA4	0	.	GRCh38	chr20	63350569	63350569	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggtgagcgacagcagcAcggagatgcacagcgtgatc	12	4	15	10	4	0	4	0	2	0	2	1	6	0	4	0	2	5	3	0	2	0	0	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.842T>C	p.Val281Ala	p.V281A	ENST00000370263	5/6	701	599	102	749	749	0	strelka-varscan-mutect	CHRNA4,missense_variant,p.Val210Ala,ENST00000615287,;CHRNA4,missense_variant,p.Val281Ala,ENST00000370263,NM_001256573.1,NM_000744.6;CHRNA4,non_coding_transcript_exon_variant,,ENST00000463705,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000467563,;CHRNA4,downstream_gene_variant,,ENST00000628665,;CHRNA4,downstream_gene_variant,,ENST00000636652,;CHRNA4,downstream_gene_variant,,ENST00000637628,;CHRNA4,downstream_gene_variant,,ENST00000637243,;CHRNA4,3_prime_UTR_variant,,ENST00000627000,;CHRNA4,3_prime_UTR_variant,,ENST00000498043,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000630240,;CHRNA4,upstream_gene_variant,,ENST00000631289,;	G	ENST00000370263	Transcript	missense_variant	1020/5577	842/1884	281/627	V/A	gTg/gCg		1		-1	CHRNA4	HGNC	HGNC:1958	protein_coding	YES	CCDS13517.1	ENSP00000359285	P43681		UPI000012523B	NM_001256573.1,NM_000744.6	deleterious(0)		5/6		Gene3D:1.20.120.370,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF401,Low_complexity_(Seg):seg,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	63350569	63350569	A	G	1	0	0	0	0	1	0	0	0	3145	159	6	5		5	CHRNA4	20	63350569	Missense_Mutation	SNP	A	C3N-01488_TP	520776	63350569	1093598	548	26512											
SOX18	0	.	GRCh38	chr20	64048833	64048833	+	Missense_Mutation	SNP	C	C	A																															gctccagccgccgggccttgCgcgcctgcttcttgcggcgc																										C3N-01488_TP	C3N-01488_NB	C	C																c.488G>T	p.Arg163Leu	p.R163L	ENST00000340356	2/2	164	105	59	141	141	0	strelka-varscan-mutect	SOX18,missense_variant,p.Arg163Leu,ENST00000340356,NM_018419.2;TCEA2,upstream_gene_variant,,ENST00000475792,;	A	ENST00000340356	Transcript	missense_variant	613/1864	488/1155	163/384	R/L	cGc/cTc	COSM4802022	1		-1	SOX18	HGNC	HGNC:11194	protein_coding	YES	CCDS13552.1	ENSP00000341815	P35713		UPI0000001C70	NM_018419.2	deleterious(0)		2/2		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF204,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	80	64048833	64048833	C	A	1	0	0	0	0	1	0	0	0	15274	768	27	1		1	SOX18	20	64048833	Missense_Mutation	SNP	C	C3N-01488_TP	698264	64048833	395334	549	26513	565	2									
SOX18	0	.	GRCh38	chr20	64048838	64048838	+	Missense_Mutation	SNP	C	C	G																															agccgccgggccttgcgcgcCtgcttcttgcggcgcggccg																								novel		C3N-01488_TP	C3N-01488_NB	C	C																c.483G>C	p.Gln161His	p.Q161H	ENST00000340356	2/2	171	111	60	148	148	0	strelka-varscan-mutect	SOX18,missense_variant,p.Gln161His,ENST00000340356,NM_018419.2;TCEA2,upstream_gene_variant,,ENST00000475792,;	G	ENST00000340356	Transcript	missense_variant	608/1864	483/1155	161/384	Q/H	caG/caC		1		-1	SOX18	HGNC	HGNC:11194	protein_coding	YES	CCDS13552.1	ENSP00000341815	P35713		UPI0000001C70	NM_018419.2	deleterious(0)		2/2		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF204,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	64048838	64048838	C	G	1	0	0	0	0	1	0	0	0	15274	680	24	4		4	SOX18	20	64048838	Missense_Mutation	SNP	C	C3N-01488_TP	5	64048838	395329	550	26514	565	2									
CHODL	0	.	GRCh38	chr21	18260286	18260286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtggttgttactgaagcaGgtaattacttcatgtgtctt	9	17	10	5	0	2	1	1	1	1	0	2	1	2	1	0	2	3	4	0	2	4	6	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.634G>T	p.Gly212Cys	p.G212C	ENST00000299295	4/6	219	156	63	254	254	0	strelka-varscan-mutect	CHODL,missense_variant,p.Gly212Cys,ENST00000299295,NM_024944.2;CHODL,missense_variant,p.Gly171Cys,ENST00000400128,;CHODL,missense_variant,p.Gly171Cys,ENST00000400127,NM_001204176.1,NM_001204175.1;CHODL,missense_variant,p.Val171Leu,ENST00000400135,NM_001204178.1;CHODL,missense_variant,p.Val171Leu,ENST00000400131,NM_001204177.1;CHODL,missense_variant,p.Val171Leu,ENST00000338326,;CHODL,missense_variant,p.Gly193Cys,ENST00000543733,NM_001204174.1;	T	ENST00000299295	Transcript	missense_variant,splice_region_variant	1025/2548	634/822	212/273	G/C	Ggt/Tgt		1		1	CHODL	HGNC	HGNC:17807	protein_coding	YES	CCDS13570.1	ENSP00000299295	Q9H9P2		UPI0000037746	NM_024944.2	deleterious(0)		4/6		hmmpanther:PTHR14789																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	18260286	18260286	G	T	1	0	0	0	0	1	0	0	0	3124	1014	35	2		2	CHODL	21	18260286	Missense_Mutation	SNP	G	C3N-01488_TP		18260286	28449697	551	26515											
NCAM2	0	.	GRCh38	chr21	21324429	21324429	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcttttaatgccacagcAgagagaggagaagaaatgac	18	7	10	6	0	1	5	0	1	1	4	1	7	1	5	1	1	2	1	1	1	4	2	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.666A>G	p.=	p.A222A	ENST00000400546	6/18	193	181	12	205	204	1	strelka-varscan-mutect	NCAM2,synonymous_variant,p.=,ENST00000400546,NM_004540.3;NCAM2,synonymous_variant,p.=,ENST00000284894,;NCAM2,non_coding_transcript_exon_variant,,ENST00000461281,;	G	ENST00000400546	Transcript	synonymous_variant	915/8135	666/2514	222/837	A	gcA/gcG		1		1	NCAM2	HGNC	HGNC:7657	protein_coding	YES	CCDS42910.1	ENSP00000383392	O15394		UPI00001A3703	NM_004540.3			6/18		Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF35,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	80	21324429	21324429	A	G	1	0	0	0	0	0	0	0	1	10219	175	7	5		5	NCAM2	21	21324429	Silent	SNP	A	C3N-01488_TP	3064143	21324429	25385554	552	26516											
BACH1	0	.	GRCh38	chr21	29342662	29342662	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccggcctccagcagtgctGcctccctgtgccagaggaaa	8	6	12	15	1	0	1	0	0	0	1	2	3	2	2	6	2	4	2	6	2	1	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.2040G>T	p.=	p.L680L	ENST00000399921	5/5	202	157	45	193	193	0	strelka-varscan-mutect	BACH1,synonymous_variant,p.=,ENST00000399921,NM_206866.2;BACH1,synonymous_variant,p.=,ENST00000286800,NM_001186.3;BACH1,intron_variant,,ENST00000422809,;BACH1,intron_variant,,ENST00000468059,;	T	ENST00000399921	Transcript	synonymous_variant	2283/5769	2040/2211	680/736	L	ctG/ctT		1		1	BACH1	HGNC	HGNC:935	protein_coding	YES	CCDS13585.1	ENSP00000382805	O14867		UPI000012673F	NM_206866.2			5/5																			LOW	1	SNV	1			1										PASS		rs1232540697	.												T	2	4	80	29342662	29342662	G	T	1	0	0	0	0	0	0	0	1	1441	1306	46	2		2	BACH1	21	29342662	Silent	SNP	G	C3N-01488_TP	8018233	29342662	17367321	553	26517											
ITSN1	0	.	GRCh38	chr21	33761967	33761967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcagtcaagtttaccacagGctcagctggcttcaatatgg	10	11	10	10	0	3	0	3	0	0	0	3	0	3	0	1	3	3	5	1	3	4	4	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.769G>A	p.Ala257Thr	p.A257T	ENST00000381318	9/40	274	217	57	298	298	0	strelka-varscan-mutect	ITSN1,missense_variant,p.Ala257Thr,ENST00000381318,NM_003024.2;ITSN1,missense_variant,p.Ala220Thr,ENST00000381285,;ITSN1,missense_variant,p.Ala257Thr,ENST00000399367,;ITSN1,missense_variant,p.Ala257Thr,ENST00000381291,NM_001001132.1;ITSN1,missense_variant,p.Ala257Thr,ENST00000399352,;ITSN1,missense_variant,p.Ala257Thr,ENST00000399349,;ITSN1,missense_variant,p.Ala257Thr,ENST00000399355,;ITSN1,missense_variant,p.Ala220Thr,ENST00000399353,;ITSN1,missense_variant,p.Ala257Thr,ENST00000399338,;ITSN1,missense_variant,p.Ala141Thr,ENST00000379960,;ITSN1,missense_variant,p.Ala197Thr,ENST00000381283,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,non_coding_transcript_exon_variant,,ENST00000488166,;	A	ENST00000381318	Transcript	missense_variant	1057/17015	769/5166	257/1721	A/T	Gct/Act		1		1	ITSN1	HGNC	HGNC:6183	protein_coding	YES	CCDS33545.1	ENSP00000370719	Q15811		UPI00001403C6	NM_003024.2	tolerated(1)		9/40		PROSITE_profiles:PS50031,PROSITE_profiles:PS50222,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF68,Pfam_domain:PF12763,Gene3D:1.10.238.10,SMART_domains:SM00027,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	33761967	33761967	G	A	1	0	0	0	0	1	0	0	0	7832	1203	42	3		3	ITSN1	21	33761967	Missense_Mutation	SNP	G	C3N-01488_TP	4419305	33761967	12948016	554	26518											
TTC3	0	.	GRCh38	chr21	37126104	37126104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgaggcgttgaaggtaGatgattgtgactgtcatcct	9	12	14	6	2	1	5	1	4	0	1	2	6	2	6	1	3	0	2	1	3	2	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.1258G>T	p.Asp420Tyr	p.D420Y	ENST00000399017	15/46	220	185	35	275	273	2	strelka-mutect	TTC3,missense_variant,p.Asp420Tyr,ENST00000399017,NM_003316.3;TTC3,missense_variant,p.Asp420Tyr,ENST00000354749,;TTC3,missense_variant,p.Asp420Tyr,ENST00000355666,NM_001001894.1;TTC3,missense_variant,p.Asp420Tyr,ENST00000418766,;TTC3,missense_variant,p.Asp402Tyr,ENST00000438055,;TTC3,missense_variant,p.Asp420Tyr,ENST00000450533,;TTC3,missense_variant,p.Asp110Tyr,ENST00000540756,;TTC3,non_coding_transcript_exon_variant,,ENST00000479930,;TTC3,non_coding_transcript_exon_variant,,ENST00000485402,;TTC3,non_coding_transcript_exon_variant,,ENST00000481605,;TTC3,non_coding_transcript_exon_variant,,ENST00000494243,;TTC3,non_coding_transcript_exon_variant,,ENST00000463216,;TTC3,non_coding_transcript_exon_variant,,ENST00000492275,;TTC3,non_coding_transcript_exon_variant,,ENST00000476784,;	T	ENST00000399017	Transcript	missense_variant	4005/10363	1258/6078	420/2025	D/Y	Gat/Tat		1		1	TTC3	HGNC	HGNC:12393	protein_coding	YES	CCDS13651.1	ENSP00000381981	P53804		UPI00001B043E	NM_003316.3	deleterious(0)		15/46		hmmpanther:PTHR17550,hmmpanther:PTHR17550:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	80	37126104	37126104	G	T	1	0	0	0	0	1	0	0	0	17206	942	33	2		2	TTC3	21	37126104	Missense_Mutation	SNP	G	C3N-01488_TP	3364137	37126104	9583879	555	26519											
ABCG1	0	.	GRCh38	chr21	42294607	42294607	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcggggttcttcgtcagCttcgacaccatccccacgta	6	12	8	15	4	3	0	1	0	2	0	7	1	4	0	3	2	1	3	3	2	1	5	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1755C>G	p.Ser585Arg	p.S585R	ENST00000361802	14/15	397	358	39	458	458	0	strelka-varscan-mutect	ABCG1,missense_variant,p.Ser731Arg,ENST00000398437,;ABCG1,missense_variant,p.Ser575Arg,ENST00000398457,NM_207627.1,NM_207628.1;ABCG1,missense_variant,p.Ser584Arg,ENST00000343687,NM_207174.1;ABCG1,missense_variant,p.Ser585Arg,ENST00000361802,NM_004915.3;ABCG1,missense_variant,p.Ser573Arg,ENST00000398449,NM_016818.2;ABCG1,missense_variant,p.Ser570Arg,ENST00000347800,NM_207629.1;ABCG1,non_coding_transcript_exon_variant,,ENST00000462050,;ABCG1,non_coding_transcript_exon_variant,,ENST00000472587,;ABCG1,non_coding_transcript_exon_variant,,ENST00000496783,;	G	ENST00000361802	Transcript	missense_variant	1900/3034	1755/2037	585/678	S/R	agC/agG		1		1	ABCG1	HGNC	HGNC:73	protein_coding	YES	CCDS13682.1	ENSP00000354995	P45844		UPI0000125130	NM_004915.3	tolerated(0.19)		14/15		Transmembrane_helices:TMhelix,hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF177,TIGRFAM_domain:TIGR00955,Pfam_domain:PF01061																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	42294607	42294607	C	G	1	0	0	0	0	1	0	0	0	72	796	28	4		4	ABCG1	21	42294607	Missense_Mutation	SNP	C	C3N-01488_TP	5168503	42294607	4415376	556	26520											
TRPM2	0	.	GRCh38	chr21	44418472	44418472	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgctatcctgggagatCtacctgaaggagaactacct	10	9	10	12	0	1	3	0	1	1	2	2	5	2	3	4	2	4	1	4	2	5	3	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.3378C>A	p.=	p.I1126I	ENST00000397928	22/32	236	199	37	231	230	1	strelka-varscan-mutect	TRPM2,synonymous_variant,p.=,ENST00000397928,NM_003307.3;TRPM2,synonymous_variant,p.=,ENST00000300482,;TRPM2,synonymous_variant,p.=,ENST00000300481,;TRPM2,synonymous_variant,p.=,ENST00000397932,;TRPM2-AS,intron_variant,,ENST00000423310,;TRPM2-AS,upstream_gene_variant,,ENST00000456880,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;	A	ENST00000397928	Transcript	synonymous_variant	3823/6221	3378/4512	1126/1503	I	atC/atA		1		1	TRPM2	HGNC	HGNC:12339	protein_coding	YES	CCDS13710.1	ENSP00000381023	O94759		UPI0000169D60	NM_003307.3			22/32		hmmpanther:PTHR13800:SF2,hmmpanther:PTHR13800																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	80	44418472	44418472	C	A	1	0	0	0	0	0	0	0	1	17092	903	32	2		2	TRPM2	21	44418472	Silent	SNP	C	C3N-01488_TP	2123865	44418472	2291511	557	26521											
KRTAP10-4	0	.	GRCh38	chr21	44573904	44573904	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccccagctgctgcgcccCggccccctgcctgagcctgg	2	5	12	22	3	0	1	0	1	0	0	0	1	0	1	8	2	5	2	8	2	0	0	rs587701380		C3N-01488_TP	C3N-01488_NB	C	C																c.146C>A	p.Pro49Gln	p.P49Q	ENST00000400374	1/1	534	461	73	589	588	1	strelka-varscan-mutect	KRTAP10-4,missense_variant,p.Pro49Gln,ENST00000400374,NM_198687.2;TSPEAR,intron_variant,,ENST00000614657,NM_001272037.1;TSPEAR,intron_variant,,ENST00000323084,NM_144991.2;TSPEAR,intron_variant,,ENST00000613245,;TSPEAR,upstream_gene_variant,,ENST00000397916,;	A	ENST00000400374	Transcript	missense_variant	176/1643	146/1206	49/401	P/Q	cCg/cAg	rs587701380	1		1	KRTAP10-4	HGNC	HGNC:20521	protein_coding	YES	CCDS42957.1	ENSP00000383225	P60372		UPI00003D4D6E	NM_198687.2	deleterious(0.01)		1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF72,Low_complexity_(Seg):seg																	MODERATE		SNV				1										PASS		rs587701380	.												A	3	1	80	44573904	44573904	C	A	1	0	0	0	0	1	0	0	0	8394	652	23	1		1	KRTAP10-4	21	44573904	Missense_Mutation	SNP	C	C3N-01488_TP	155432	44573904	2136079	558	26522											
COL18A1	0	.	GRCh38	chr21	45486969	45486969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccccctgggcccccaGgaccaggactccccgctgga	5	4	13	19	1	0	0	0	0	0	0	1	3	1	3	7	5	0	1	7	5	0	0	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.3055G>A	p.Gly1019Arg	p.G1019R	ENST00000359759	15/41	48	42	6	42	42	0	strelka-varscan-mutect	COL18A1,missense_variant,p.Gly1019Arg,ENST00000359759,NM_130444.2;COL18A1,missense_variant,p.Gly784Arg,ENST00000355480,NM_030582.3;COL18A1,missense_variant,p.Gly604Arg,ENST00000400337,NM_130445.3;COL18A1,upstream_gene_variant,,ENST00000342220,;	A	ENST00000359759	Transcript	missense_variant	3055/6586	3055/5265	1019/1754	G/R	Gga/Aga		1		1	COL18A1	HGNC	HGNC:2195	protein_coding	YES	CCDS77643.1	ENSP00000352798	P39060		UPI0001838820	NM_130444.2	deleterious(0)		15/41		hmmpanther:PTHR24023,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	80	45486969	45486969	G	A	1	0	0	0	0	1	0	0	0	3463	1001	35	3		3	COL18A1	21	45486969	Missense_Mutation	SNP	G	C3N-01488_TP	913065	45486969	1223014	559	26523											
GAB4	0	.	GRCh38	chr22	17008041	17008041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggggccacttccgggcCacgaagacaaaggcgcaaat	11	3	14	13	5	0	1	0	0	0	1	1	2	1	1	3	5	0	1	3	5	3	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.74G>T	p.Trp25Leu	p.W25L	ENST00000400588	1/10	134	117	17	158	158	0	strelka-varscan-mutect	GAB4,missense_variant,p.Trp25Leu,ENST00000400588,NM_001037814.1;AC006548.28,non_coding_transcript_exon_variant,,ENST00000623130,;GAB4,upstream_gene_variant,,ENST00000523144,;GAB4,upstream_gene_variant,,ENST00000465611,;AC006548.26,upstream_gene_variant,,ENST00000605217,;	A	ENST00000400588	Transcript	missense_variant	182/2630	74/1725	25/574	W/L	tGg/tTg		1		-1	GAB4	HGNC	HGNC:18325	protein_coding	YES	CCDS42976.1	ENSP00000383431	Q2WGN9		UPI00002326B5	NM_001037814.1	tolerated_low_confidence(0.07)		1/10		hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF20,Low_complexity_(Seg):seg,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	17008041	17008041	C	A	1	0	0	0	0	1	0	0	0	6022	595	21	2		2	GAB4	22	17008041	Missense_Mutation	SNP	C	C3N-01488_TP		17008041	33810427	560	26524											
GAB4	0	.	GRCh38	chr22	17008053	17008053	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccgggccacgaagacaaaGgcgcaaatgccgggtcaggt	11	5	14	11	4	1	1	1	0	0	1	2	2	2	1	3	4	1	1	3	4	3	1	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.62C>G	p.Pro21Arg	p.P21R	ENST00000400588	1/10	128	112	16	154	154	0	strelka-varscan-mutect	GAB4,missense_variant,p.Pro21Arg,ENST00000400588,NM_001037814.1;AC006548.28,non_coding_transcript_exon_variant,,ENST00000623130,;GAB4,upstream_gene_variant,,ENST00000523144,;GAB4,upstream_gene_variant,,ENST00000465611,;AC006548.26,upstream_gene_variant,,ENST00000605217,;	C	ENST00000400588	Transcript	missense_variant	170/2630	62/1725	21/574	P/R	cCt/cGt		1		-1	GAB4	HGNC	HGNC:18325	protein_coding	YES	CCDS42976.1	ENSP00000383431	Q2WGN9		UPI00002326B5	NM_001037814.1	deleterious_low_confidence(0)		1/10		hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF20,Low_complexity_(Seg):seg,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		rs1227455985	.												C	3	2	80	17008053	17008053	G	C	1	0	0	0	0	1	0	0	0	6022	1000	35	4		4	GAB4	22	17008053	Missense_Mutation	SNP	G	C3N-01488_TP	12	17008053	33810415	561	26525											
MED15	0	.	GRCh38	chr22	20584899	20584899	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaccgaccaaacagcagtaCctatgccagccgctcctgga	11	5	8	17	2	0	0	0	0	0	0	1	2	1	1	7	1	5	3	7	1	3	2	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1848C>T	p.=	p.Y616Y	ENST00000263205	15/18	274	225	49	380	380	0	strelka-varscan-mutect	MED15,synonymous_variant,p.=,ENST00000263205,NM_001003891.2;MED15,synonymous_variant,p.=,ENST00000292733,NM_001293234.1,NM_015889.4;MED15,synonymous_variant,p.=,ENST00000406969,NM_001293235.1,NM_001293237.1;MED15,synonymous_variant,p.=,ENST00000382974,NM_001293236.1;MED15,downstream_gene_variant,,ENST00000478831,;MED15,3_prime_UTR_variant,,ENST00000433831,;MED15,non_coding_transcript_exon_variant,,ENST00000493216,;MED15,non_coding_transcript_exon_variant,,ENST00000492381,;MED15,non_coding_transcript_exon_variant,,ENST00000489651,;MED15,non_coding_transcript_exon_variant,,ENST00000473244,;MED15,intron_variant,,ENST00000461076,;MED15,downstream_gene_variant,,ENST00000476187,;MED15,upstream_gene_variant,,ENST00000436496,;CCDC74BP1,downstream_gene_variant,,ENST00000508880,;	T	ENST00000263205	Transcript	synonymous_variant	1917/3351	1848/2367	616/788	Y	taC/taT		1		1	MED15	HGNC	HGNC:14248	protein_coding	YES	CCDS33602.1	ENSP00000263205	Q96RN5		UPI00001313C4	NM_001003891.2			15/18		Pfam_domain:PF09606,hmmpanther:PTHR31804,hmmpanther:PTHR31804:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	80	20584899	20584899	C	T	1	0	0	0	0	0	0	0	1	9372	518	18	3		3	MED15	22	20584899	Silent	SNP	C	C3N-01488_TP	3576846	20584899	30233569	562	26526											
ZNF280A	0	.	GRCh38	chr22	22515067	22515067	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctaaagaaggtaccccTgggattccatccctgagttt	11	10	9	11	0	0	2	0	1	0	1	2	3	2	3	4	2	2	3	4	2	4	4	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.564A>T	p.=	p.P188P	ENST00000302097	2/2	208	174	34	381	381	0	strelka-varscan-mutect	ZNF280A,synonymous_variant,p.=,ENST00000302097,NM_080740.4;	A	ENST00000302097	Transcript	synonymous_variant	817/2148	564/1629	188/542	P	ccA/ccT		1		-1	ZNF280A	HGNC	HGNC:18597	protein_coding	YES	CCDS13800.1	ENSP00000302855	P59817		UPI000011B50C	NM_080740.4			2/2		Pfam_domain:PF13836																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	80	22515067	22515067	T	A	1	0	0	0	0	0	0	0	1	18390	1567	55	4		4	ZNF280A	22	22515067	Silent	SNP	T	C3N-01488_TP	1930168	22515067	28303401	563	26527											
NCF4	0	.	GRCh38	chr22	36870453	36870453	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggtgctgatggatgaGgacgtccggatcttctttta	6	14	14	7	2	3	2	0	2	3	0	4	5	4	5	1	4	1	1	1	4	1	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.381G>C	p.Glu127Asp	p.E127D	ENST00000397147	5/9	562	509	53	695	695	0	strelka-varscan-mutect	NCF4,missense_variant,p.Glu127Asp,ENST00000397147,NM_013416.3;NCF4,missense_variant,p.Glu127Asp,ENST00000248899,NM_000631.4;NCF4,missense_variant,p.Glu24Asp,ENST00000447071,;CTA-833B7.2,upstream_gene_variant,,ENST00000619915,;CTA-833B7.2,upstream_gene_variant,,ENST00000431290,;NCF4,upstream_gene_variant,,ENST00000415063,;	C	ENST00000397147	Transcript	missense_variant	565/1641	381/1047	127/348	E/D	gaG/gaC		1		1	NCF4	HGNC	HGNC:7662	protein_coding	YES	CCDS13935.1	ENSP00000380334	Q15080		UPI000013CC59	NM_013416.3	tolerated(0.23)		5/9		PROSITE_profiles:PS50195,hmmpanther:PTHR10663:SF209,hmmpanther:PTHR10663,Gene3D:3.30.1520.10,Pfam_domain:PF00787,SMART_domains:SM00312,Superfamily_domains:SSF64268																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	80	36870453	36870453	G	C	1	0	0	0	0	1	0	0	0	10236	991	35	4		4	NCF4	22	36870453	Missense_Mutation	SNP	G	C3N-01488_TP	14355386	36870453	13948015	564	26528											
SULT4A1	0	.	GRCh38	chr22	43838904	43838904	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccggcagaattcttgaaaGgtgcctcggtagctcatggt	8	11	12	10	2	2	2	1	1	1	1	4	2	3	2	2	4	2	3	2	4	3	3	novel		C3N-01488_TP	C3N-01488_NB	G	G																c.471C>A	p.=	p.T157T	ENST00000330884	4/7	208	180	28	307	307	0	strelka-varscan-mutect	SULT4A1,synonymous_variant,p.=,ENST00000330884,NM_014351.3;SULT4A1,synonymous_variant,p.=,ENST00000422525,;SULT4A1,3_prime_UTR_variant,,ENST00000432404,;SULT4A1,non_coding_transcript_exon_variant,,ENST00000475131,;	T	ENST00000330884	Transcript	synonymous_variant	592/2468	471/855	157/284	T	acC/acA		1		-1	SULT4A1	HGNC	HGNC:14903	protein_coding	YES	CCDS14051.1	ENSP00000332565	Q9BR01		UPI0000135477	NM_014351.3			4/7		hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF76,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs1169389768	.												T	2	4	80	43838904	43838904	G	T	1	0	0	0	0	0	0	0	1	15769	987	35	2		2	SULT4A1	22	43838904	Silent	SNP	G	C3N-01488_TP	6968451	43838904	6979564	565	26529											
TBC1D22A	0	.	GRCh38	chr22	46878712	46878712	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcgtccaatgacgtggAagctcctctcagtaagtccc	9	9	10	13	2	1	1	1	1	1	0	5	2	4	2	3	1	2	2	3	1	3	1	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.697A>T	p.Lys233Ter	p.K233*	ENST00000337137	5/13	151	126	25	239	238	1	strelka-varscan-mutect	TBC1D22A,stop_gained,p.Lys203Ter,ENST00000380995,NM_001284304.1;TBC1D22A,stop_gained,p.Lys233Ter,ENST00000337137,NM_014346.3;TBC1D22A,stop_gained,p.Lys186Ter,ENST00000406733,NM_001284305.1;TBC1D22A,stop_gained,p.Lys174Ter,ENST00000407381,;TBC1D22A,stop_gained,p.Lys155Ter,ENST00000355704,NM_001284303.1;TBC1D22A,stop_gained,p.Lys186Ter,ENST00000441162,;TBC1D22A,intron_variant,,ENST00000394449,;	T	ENST00000337137	Transcript	stop_gained	863/3787	697/1554	233/517	K/*	Aag/Tag		1		1	TBC1D22A	HGNC	HGNC:1309	protein_coding	YES	CCDS14078.1	ENSP00000336724	Q8WUA7		UPI0000128722	NM_014346.3			5/13		PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF255,Gene3D:2qq8A02,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	80	46878712	46878712	A	T	1	0	0	0	0	0	1	0	0	16011	247	9	4		4	TBC1D22A	22	46878712	Nonsense_Mutation	SNP	A	C3N-01488_TP	3039808	46878712	3939756	566	26530											
ASMTL	0	.	GRCh38	chrX	1442215	1442215	+	Missense_Mutation	SNP	C	C	A																															ccggttggccacctccagggCcttctgcttggcggtctcca																								novel		C3N-01488_TP	C3N-01488_NB	C	C																c.196G>T	p.Ala66Ser	p.A66S	ENST00000381317	2/13	167	128	39	270	270	0	strelka-varscan-mutect	ASMTL,missense_variant,p.Ala8Ser,ENST00000534940,NM_001173473.1;ASMTL,missense_variant,p.Ala66Ser,ENST00000381333,NM_001173474.1;ASMTL,missense_variant,p.Ala66Ser,ENST00000381317,NM_004192.3;ASMTL,non_coding_transcript_exon_variant,,ENST00000474865,;	A	ENST00000381317	Transcript	missense_variant	229/2027	196/1866	66/621	A/S	Gcc/Tcc		1		-1	ASMTL	HGNC	HGNC:751	protein_coding	YES	CCDS43917.1	ENSP00000370718	O95671		UPI0000141AF9	NM_004192.3	deleterious(0)		2/13		Gene3D:3.90.950.10,HAMAP:MF_00528,Pfam_domain:PF02545,Superfamily_domains:SSF52972,TIGRFAM_domain:TIGR00172																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	1442215	1442215	C	A	1	0	0	0	0	1	0	0	0	1193	739	26	2		2	ASMTL	23	1442215	Missense_Mutation	SNP	C	C3N-01488_TP		1442215	154598680	567	26531	566	2									
ASMTL	0	.	GRCh38	chrX	1442216	1442216	+	Missense_Mutation	SNP	C	C	A																															cggttggccacctccagggcCttctgcttggcggtctccat																								novel		C3N-01488_TP	C3N-01488_NB	C	C																c.195G>T	p.Lys65Asn	p.K65N	ENST00000381317	2/13	176	135	41	270	269	1	strelka-varscan-mutect	ASMTL,missense_variant,p.Lys7Asn,ENST00000534940,NM_001173473.1;ASMTL,missense_variant,p.Lys65Asn,ENST00000381333,NM_001173474.1;ASMTL,missense_variant,p.Lys65Asn,ENST00000381317,NM_004192.3;ASMTL,non_coding_transcript_exon_variant,,ENST00000474865,;	A	ENST00000381317	Transcript	missense_variant	228/2027	195/1866	65/621	K/N	aaG/aaT		1		-1	ASMTL	HGNC	HGNC:751	protein_coding	YES	CCDS43917.1	ENSP00000370718	O95671		UPI0000141AF9	NM_004192.3	deleterious(0)		2/13		Gene3D:3.90.950.10,HAMAP:MF_00528,Pfam_domain:PF02545,Superfamily_domains:SSF52972,TIGRFAM_domain:TIGR00172																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	1442216	1442216	C	A	1	0	0	0	0	1	0	0	0	1193	680	24	2		2	ASMTL	23	1442216	Missense_Mutation	SNP	C	C3N-01488_TP	1	1442216	154598679	568	26532	566	2									
MAGEB6P1	0	.	GRCh38	chrX	26161447	26161447	+	Frame_Shift_Del	DEL	C	C	-																															tgagtggtgataatgcgctgCcgaagtcgggtctcctgatg																								novel		C3N-01488_TP	C3N-01488_NB	C	C																c.848delC	p.Pro283ArgfsTer6	p.P283Rfs*6	ENST00000416929	1/1	107	73	34	171	171	0	sindel-varindel-pindel	MAGEB6P1,frameshift_variant,p.Pro283ArgfsTer6,ENST00000416929,;	-	ENST00000416929	Transcript	frameshift_variant	847/1224	847/1224	283/407	P/X	Ccg/cg		1		1	MAGEB6P1	HGNC	HGNC:28824	protein_coding	YES		ENSP00000488257		A0A0J9YX57	UPI0000237759				1/1		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF80,hmmpanther:PTHR11736,Pfam_domain:PF01454,SMART_domains:SM01373																	HIGH	1	deletion		1		1										PASS		.	.												-	7	5	80	26161447	26161447	C	-	1	0	1	0	1	0	0	0	0	9097	739	26	0		0	MAGEB6P1	23	26161447	Frame_Shift_Del	DEL	C	C3N-01488_TP	24719231	26161447	129879448	569	26533											
FAM47A	0	.	GRCh38	chrX	34131532	34131532	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgagtgatgggaggcccCgggcggatatgggacactcc	8	5	17	11	4	0	1	0	1	0	0	1	6	1	4	3	5	0	0	3	5	1	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.747G>T	p.=	p.P249P	ENST00000346193	1/1	111	70	41	184	184	0	strelka-varscan-mutect	FAM47A,synonymous_variant,p.=,ENST00000346193,NM_203408.3;FAM47A,synonymous_variant,p.=,ENST00000613251,;	A	ENST00000346193	Transcript	synonymous_variant	780/2556	747/2376	249/791	P	ccG/ccT		1		-1	FAM47A	HGNC	HGNC:29962	protein_coding	YES	CCDS43926.1	ENSP00000345029	Q5JRC9		UPI000013F1F4	NM_203408.3			1/1		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF200,Pfam_domain:PF14642																	LOW	1	SNV				1										PASS		.	.												A	2	1	80	34131532	34131532	C	A	1	0	0	0	0	0	0	0	1	5447	639	23	1		1	FAM47A	23	34131532	Silent	SNP	C	C3N-01488_TP	7970085	34131532	121909363	570	26534											
CFAP47	0	.	GRCh38	chrX	36104633	36104633	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgaaagaattttgcttagTtggatgaacataaattatga	15	15	8	3	0	1	4	0	3	1	1	1	5	1	5	0	1	2	2	0	1	7	6	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.5262T>A	p.Ser1754Arg	p.S1754R	ENST00000378653	33/64	25	17	8	41	41	0	strelka-varscan-mutect	CFAP47,missense_variant,p.Ser1754Arg,ENST00000378653,NM_001304548.1;CFAP47,missense_variant,p.Ser329Arg,ENST00000313548,;CFAP47,non_coding_transcript_exon_variant,,ENST00000378660,;	A	ENST00000378653	Transcript	missense_variant	5328/9943	5262/9564	1754/3187	S/R	agT/agA		1		1	CFAP47	HGNC	HGNC:26708	protein_coding			ENSP00000367922		A0A140T8X2	UPI000596DACD	NM_001304548.1	tolerated(0.08)		33/64		PROSITE_profiles:PS50021,hmmpanther:PTHR23053,Gene3D:1.10.418.10,Superfamily_domains:SSF47576																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	80	36104633	36104633	T	A	1	0	0	0	0	1	0	0	0	3022	1722	60	4		4	CFAP47	23	36104633	Missense_Mutation	SNP	T	C3N-01488_TP	1973101	36104633	119936262	571	26535											
SYN1	0	.	GRCh38	chrX	47574256	47574256	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtggggccccagaggcCtttggcggagccgggccaga	5	4	18	14	3	0	2	0	0	0	2	0	3	0	3	6	7	1	0	6	7	0	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.1728G>C	p.Lys576Asn	p.K576N	ENST00000295987	12/13	80	55	25	104	104	0	strelka-varscan-mutect	SYN1,missense_variant,p.Lys576Asn,ENST00000295987,NM_006950.3;SYN1,missense_variant,p.Lys576Asn,ENST00000340666,NM_133499.2;ARAF,downstream_gene_variant,,ENST00000290277,NM_001256196.1;ARAF,downstream_gene_variant,,ENST00000377045,NM_001654.4;ARAF,downstream_gene_variant,,ENST00000470206,;ARAF,downstream_gene_variant,,ENST00000469505,;	G	ENST00000295987	Transcript	missense_variant	1853/3209	1728/2118	576/705	K/N	aaG/aaC		1		-1	SYN1	HGNC	HGNC:11494	protein_coding	YES	CCDS14280.1	ENSP00000295987	P17600		UPI0000167B47	NM_006950.3	tolerated(0.22)		12/13		Low_complexity_(Seg):seg,hmmpanther:PTHR10841:SF22,hmmpanther:PTHR10841																	MODERATE		SNV	2			1										PASS		rs1230257627	.												G	3	3	80	47574256	47574256	C	G	1	0	0	0	0	1	0	0	0	15830	680	24	4		4	SYN1	23	47574256	Missense_Mutation	SNP	C	C3N-01488_TP	11469623	47574256	108466639	572	26536											
PIN4	0	.	GRCh38	chrX	72197523	72197523	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attatggtcgaaggaagaaaAtaaaatcatatgaaagactg	20	9	9	3	1	1	3	1	1	0	2	2	5	1	4	0	2	0	0	0	2	9	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.468A>G	p.=	p.K156K	ENST00000373669	4/4	43	37	6	71	71	0	strelka-varscan-mutect	PIN4,synonymous_variant,p.=,ENST00000373669,NM_006223.3;PIN4,3_prime_UTR_variant,,ENST00000218432,;PIN4,intron_variant,,ENST00000423432,NM_001170747.1;PIN4,intron_variant,,ENST00000496835,;PIN4,downstream_gene_variant,,ENST00000446576,;RN7SL388P,upstream_gene_variant,,ENST00000498736,;PIN4,intron_variant,,ENST00000439980,;PIN4,downstream_gene_variant,,ENST00000373662,;	G	ENST00000373669	Transcript	synonymous_variant	500/1321	468/471	156/156	K	aaA/aaG		1		1	PIN4	HGNC	HGNC:8992	protein_coding	YES	CCDS14417.1	ENSP00000362773	Q9Y237		UPI00002263A9	NM_006223.3			4/4		Gene3D:3.10.50.40,hmmpanther:PTHR10657																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	80	72197523	72197523	A	G	1	0	0	0	0	0	0	0	1	12026	98	4	5		5	PIN4	23	72197523	Silent	SNP	A	C3N-01488_TP	24623267	72197523	83843372	573	26537											
UPRT	0	.	GRCh38	chrX	75300876	75300876	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgatttcaggcactggaaAtactgtaattgaagctgtaa	13	14	9	5	0	1	2	1	2	0	0	1	3	1	3	0	2	2	4	0	2	5	6	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.734A>G	p.Asn245Ser	p.N245S	ENST00000373383	6/7	54	30	24	75	75	0	strelka-mutect	UPRT,missense_variant,p.Asn245Ser,ENST00000373379,NM_001307944.1;UPRT,missense_variant,p.Asn245Ser,ENST00000373383,NM_145052.3;UPRT,missense_variant,p.Asn109Ser,ENST00000530743,;UPRT,non_coding_transcript_exon_variant,,ENST00000474175,;UPRT,non_coding_transcript_exon_variant,,ENST00000526850,;UPRT,downstream_gene_variant,,ENST00000531704,;UPRT,3_prime_UTR_variant,,ENST00000462237,;	G	ENST00000373383	Transcript	missense_variant	901/2186	734/930	245/309	N/S	aAt/aGt		1		1	UPRT	HGNC	HGNC:28334	protein_coding	YES	CCDS14429.1	ENSP00000362481	Q96BW1	A8KAF9	UPI000004B62E	NM_145052.3	deleterious(0.02)		6/7		Gene3D:3.40.50.2020,Pfam_domain:PF14681,hmmpanther:PTHR10285,Superfamily_domains:SSF53271																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	80	75300876	75300876	A	G	1	0	0	0	0	1	0	0	0	17540	101	4	5		5	UPRT	23	75300876	Missense_Mutation	SNP	A	C3N-01488_TP	3103353	75300876	80740019	574	26538											
GLRA4	0	.	GRCh38	chrX	103724541	103724541	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagggagatcccttacCattgtggtcttggtgatgga	8	11	15	7	0	1	2	0	1	1	1	2	5	2	4	2	5	2	1	2	5	1	3			C3N-01488_TP	C3N-01488_NB	C	C																c.270G>C	p.Met90Ile	p.M90I	ENST00000372617	3/9	66	50	16	103	103	0	strelka-varscan-mutect	GLRA4,missense_variant,p.Met90Ile,ENST00000372617,NM_001024452.2;GLRA4,upstream_gene_variant,,ENST00000469567,;GLRA4,splice_region_variant,,ENST00000480725,;GLRA4,splice_region_variant,,ENST00000436213,;	G	ENST00000372617	Transcript	missense_variant,splice_region_variant	691/1795	270/1254	90/417	M/I	atG/atC	COSM462350,COSM462351	1		-1	GLRA4	HGNC	HGNC:31715	protein_coding	YES	CCDS43980.2	ENSP00000361700	Q5JXX5		UPI000188140C	NM_001024452.2	deleterious(0)		3/9		hmmpanther:PTHR18945:SF211,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1300011619	.												G	3	3	80	103724541	103724541	C	G	1	0	0	0	0	1	0	0	0	6336	608	21	4		4	GLRA4	23	103724541	Missense_Mutation	SNP	C	C3N-01488_TP	28423665	103724541	52316354	575	26539											
TBC1D8B	0	.	GRCh38	chrX	106827182	106827182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctaggtcttagctataGataagacaaatgattccagc	13	10	7	11	0	1	3	0	1	1	2	2	3	2	3	3	1	2	1	3	1	6	6			C3N-01488_TP	C3N-01488_NB	G	G																c.1048G>T	p.Asp350Tyr	p.D350Y	ENST00000357242	7/21	69	43	26	114	113	1	strelka-varscan-mutect	TBC1D8B,missense_variant,p.Asp350Tyr,ENST00000357242,NM_017752.2;TBC1D8B,missense_variant,p.Asp350Tyr,ENST00000481617,;TBC1D8B,missense_variant,p.Asp350Tyr,ENST00000276175,;TBC1D8B,missense_variant,p.Asp350Tyr,ENST00000310452,NM_198881.1;MORC4,intron_variant,,ENST00000604604,;	T	ENST00000357242	Transcript	missense_variant	1222/5717	1048/3363	350/1120	D/Y	Gat/Tat	COSM164815	1		1	TBC1D8B	HGNC	HGNC:24715	protein_coding	YES	CCDS14522.1	ENSP00000349781	Q0IIM8		UPI0000225CD5	NM_017752.2	deleterious(0)		7/21		hmmpanther:PTHR22957:SF320,hmmpanther:PTHR22957,Pfam_domain:PF02893,SMART_domains:SM00568											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	80	106827182	106827182	G	T	1	0	0	0	0	1	0	0	0	16031	942	33	2		2	TBC1D8B	23	106827182	Missense_Mutation	SNP	G	C3N-01488_TP	3102641	106827182	49213713	576	26540											
TRPC5	0	.	GRCh38	chrX	111952136	111952136	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagcaatgcatcacccacAtacacgctgtggttcagcag	12	8	9	12	1	2	1	2	0	0	1	2	1	2	1	1	1	4	5	1	1	3	3	novel		C3N-01488_TP	C3N-01488_NB	A	A																c.285T>C	p.=	p.Y95Y	ENST00000262839	2/11	134	87	47	152	152	0	strelka-varscan-mutect	TRPC5,synonymous_variant,p.=,ENST00000262839,NM_012471.2;	G	ENST00000262839	Transcript	synonymous_variant	1204/5839	285/2922	95/973	Y	taT/taC		1		-1	TRPC5	HGNC	HGNC:12337	protein_coding	YES	CCDS14561.1	ENSP00000262839	Q9UL62		UPI00001374B6	NM_012471.2			2/11		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF24,Pfam_domain:PF12796,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	80	111952136	111952136	A	G	1	0	0	0	0	0	0	0	1	17087	224	8	5		5	TRPC5	23	111952136	Silent	SNP	A	C3N-01488_TP	5124954	111952136	44088759	577	26541											
KLHL13	0	.	GRCh38	chrX	117909673	117909673	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagacctaatggcagtccTgtctgactgcataactggct	9	11	10	11	0	2	2	1	1	1	1	3	2	3	2	2	2	2	3	2	2	2	2	novel		C3N-01488_TP	C3N-01488_NB	T	T																c.1003A>T	p.Arg335Trp	p.R335W	ENST00000539496	6/8	147	96	51	210	209	1	strelka-varscan-mutect	KLHL13,missense_variant,p.Arg281Trp,ENST00000371876,;KLHL13,missense_variant,p.Arg332Trp,ENST00000262820,NM_033495.3;KLHL13,missense_variant,p.Arg281Trp,ENST00000447671,;KLHL13,missense_variant,p.Arg316Trp,ENST00000540167,NM_001168302.1;KLHL13,missense_variant,p.Arg290Trp,ENST00000545703,NM_001168303.1,NM_001168300.1;KLHL13,missense_variant,p.Arg281Trp,ENST00000371882,;KLHL13,missense_variant,p.Arg281Trp,ENST00000371878,;KLHL13,missense_variant,p.Arg316Trp,ENST00000541812,NM_001168301.1;KLHL13,missense_variant,p.Arg335Trp,ENST00000539496,NM_001168299.1;KLHL13,missense_variant,p.Arg281Trp,ENST00000469946,;Y_RNA,downstream_gene_variant,,ENST00000363421,;	A	ENST00000539496	Transcript	missense_variant	1003/3071	1003/1977	335/658	R/W	Agg/Tgg		1		-1	KLHL13	HGNC	HGNC:22931	protein_coding	YES	CCDS55480.1	ENSP00000443191	Q9P2N7		UPI0001914B0F	NM_001168299.1	deleterious(0)		6/8		Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF68																	MODERATE	1	SNV	2			1										PASS		rs1336320983	.												A	3	1	80	117909673	117909673	T	A	1	0	0	0	0	1	0	0	0	8233	1579	55	4		4	KLHL13	23	117909673	Missense_Mutation	SNP	T	C3N-01488_TP	5957537	117909673	38131222	578	26542											
RHOXF2B	0	.	GRCh38	chrX	120077098	120077098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgccctcgaggtttccttcCcataggtggccaggaactcc	6	10	11	14	1	0	0	0	0	0	0	4	2	3	1	5	4	2	1	5	4	2	3	rs782408568		C3N-01488_TP	C3N-01488_NB	C	C																c.270G>T	p.Trp90Cys	p.W90C	ENST00000371402	2/4	354	231	123	427	425	2	strelka-varscan-mutect	RHOXF2B,missense_variant,p.Trp90Cys,ENST00000371402,NM_001099685.1;RHOXF1-AS1,intron_variant,,ENST00000553843,;	A	ENST00000371402	Transcript	missense_variant	423/2864	270/867	90/288	W/C	tgG/tgT	rs782408568	1		-1	RHOXF2B	HGNC	HGNC:33519	protein_coding	YES	CCDS43985.1	ENSP00000360455	P0C7M4		UPI000006D753	NM_001099685.1	tolerated(0.18)		2/4		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF327																	MODERATE	1	SNV	1			1										PASS		rs782408568	.												A	3	1	80	120077098	120077098	C	A	1	0	0	0	0	1	0	0	0	13522	624	22	2		2	RHOXF2B	23	120077098	Missense_Mutation	SNP	C	C3N-01488_TP	2167425	120077098	35963797	579	26543											
CD40LG	0	.	GRCh38	chrX	136659156	136659156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatatctatgcccaagtcaCcttctgttccaatcgggaag	10	13	7	11	1	3	0	1	0	2	0	5	1	4	1	3	1	1	1	3	1	6	5			C3N-01488_TP	C3N-01488_NB	C	C																c.527C>A	p.Thr176Asn	p.T176N	ENST00000370629	5/5	175	130	45	276	275	1	strelka-varscan-mutect	CD40LG,missense_variant,p.Thr176Asn,ENST00000370629,NM_000074.2;CD40LG,missense_variant,p.Thr155Asn,ENST00000370628,;	A	ENST00000370629	Transcript	missense_variant	583/1817	527/786	176/261	T/N	aCc/aAc	CM011012,CD40Lbase_D0015:g.11963C>T	1		1	CD40LG	HGNC	HGNC:11935	protein_coding	YES	CCDS14659.1	ENSP00000359663	P29965		UPI00000315E7	NM_000074.2	deleterious(0.01)		5/5		PROSITE_profiles:PS50049,hmmpanther:PTHR11471:SF5,hmmpanther:PTHR11471,PROSITE_patterns:PS00251,Pfam_domain:PF00229,PIRSF_domain:PIRSF016527,Gene3D:2.60.120.40,SMART_domains:SM00207,Superfamily_domains:SSF49842																	MODERATE	1	SNV	1		1,0	1										PASS		.	.												A	3	1	80	136659156	136659156	C	A	1	0	0	0	0	1	0	0	0	2720	507	18	2		2	CD40LG	23	136659156	Missense_Mutation	SNP	C	C3N-01488_TP	16582058	136659156	19381739	580	26544											
FGF13	0	.	GRCh38	chrX	138635544	138635544	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctccttctttgttcagacCcagataccaccctcggcctg	6	12	6	17	1	3	2	1	0	2	2	5	2	3	2	5	1	1	1	5	1	1	4	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.544G>T	p.Gly182Cys	p.G182C	ENST00000436198	6/7	180	131	49	292	292	0	strelka-varscan-mutect	FGF13,missense_variant,p.Gly172Cys,ENST00000315930,NM_004114.3;FGF13,missense_variant,p.Gly119Cys,ENST00000305414,NM_033642.2;FGF13,missense_variant,p.Gly182Cys,ENST00000436198,NM_001139500.1;FGF13,missense_variant,p.Gly126Cys,ENST00000626909,NM_001139498.1;FGF13,missense_variant,p.Gly188Cys,ENST00000455663,;Z83313.1,missense_variant,p.Gly153Cys,ENST00000441825,NM_001139501.1,NM_001139502.1;	A	ENST00000436198	Transcript	missense_variant	794/1165	544/768	182/255	G/C	Ggt/Tgt		1		-1	FGF13	HGNC	HGNC:3670	protein_coding	YES	CCDS55513.1	ENSP00000396198	Q92913		UPI00001484B4	NM_001139500.1	deleterious(0)		6/7		Gene3D:2.80.10.50,Pfam_domain:PF00167,hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF77,SMART_domains:SM00442,Superfamily_domains:SSF50353																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	80	138635544	138635544	C	A	1	0	0	0	0	1	0	0	0	5706	623	22	2		2	FGF13	23	138635544	Missense_Mutation	SNP	C	C3N-01488_TP	1976388	138635544	17405351	581	26545											
HCFC1	0	.	GRCh38	chrX	153955069	153955069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgcccgtctcgtgggtCtcgcagggtgggtttgagca	3	11	18	9	3	2	1	0	1	2	0	4	1	2	1	1	4	2	3	1	4	0	1	novel		C3N-01488_TP	C3N-01488_NB	C	C																c.3330G>T	p.Glu1110Asp	p.E1110D	ENST00000310441	17/26	86	56	30	114	114	0	strelka-varscan-mutect	HCFC1,missense_variant,p.Glu1110Asp,ENST00000310441,NM_005334.2;HCFC1,missense_variant,p.Glu1110Asp,ENST00000369984,;HCFC1,upstream_gene_variant,,ENST00000444191,;HCFC1,downstream_gene_variant,,ENST00000461098,;	A	ENST00000310441	Transcript	missense_variant	4297/8869	3330/6108	1110/2035	E/D	gaG/gaT		1		-1	HCFC1	HGNC	HGNC:4839	protein_coding	YES	CCDS44020.1	ENSP00000309555	P51610		UPI0000142F1F	NM_005334.2	deleterious_low_confidence(0.01)		17/26																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	80	153955069	153955069	C	A	1	0	0	0	0	1	0	0	0	6879	912	32	2		2	HCFC1	23	153955069	Missense_Mutation	SNP	C	C3N-01488_TP	15319525	153955069	2085826	582	26546											
PLEKHN1	0	.	GRCh38	chr1	974474	974474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaggagccgggaccccGgctacgaccacctctgggac	8	3	14	16	3	1	0	0	0	1	0	1	5	1	4	6	5	2	1	6	5	1	1	rs765491496		C3N-01489_TP	C3N-01489_NB	G	G																c.1735G>T	p.Gly579Cys	p.G579C	ENST00000379410	16/16	148	127	21	222	221	1	strelka-varscan-mutect	PLEKHN1,missense_variant,p.Gly631Cys,ENST00000379409,;PLEKHN1,missense_variant,p.Gly579Cys,ENST00000379410,NM_032129.2;PLEKHN1,missense_variant,p.Gly544Cys,ENST00000379407,NM_001160184.1;PLEKHN1,missense_variant,p.Gly144Cys,ENST00000491024,;PERM1,downstream_gene_variant,,ENST00000433179,NM_001291366.1;PERM1,downstream_gene_variant,,ENST00000341290,NM_001291367.1;PERM1,downstream_gene_variant,,ENST00000479361,;PLEKHN1,downstream_gene_variant,,ENST00000480267,;	T	ENST00000379410	Transcript	missense_variant	1770/2404	1735/1836	579/611	G/C	Ggc/Tgc	rs765491496,COSM4530870,COSM4530871	1		1	PLEKHN1	HGNC	HGNC:25284	protein_coding	YES	CCDS4.1	ENSP00000368720	Q494U1		UPI00001416D8	NM_032129.2	deleterious_low_confidence(0.02)		16/16		hmmpanther:PTHR22826:SF139,hmmpanther:PTHR22826											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs765491496	.												T	3	4	81	974474	974474	G	T	1	0	0	0	0	1	0	0	0	12176	1116	39	1		1	PLEKHN1	1	974474	Missense_Mutation	SNP	G	C3N-01489_TP		974474	247981948	1	26547											
TTLL10	0	.	GRCh38	chr1	1180057	1180057	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcccacgagaggccaatgGggagcagccaggaggaggga	11	1	19	10	2	0	1	0	0	0	1	0	6	0	5	3	7	2	1	3	7	1	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.223G>C	p.Gly75Arg	p.G75R	ENST00000379290	6/16	34	28	6	62	62	0	strelka-mutect	TTLL10,missense_variant,p.Gly75Arg,ENST00000379290,;TTLL10,missense_variant,p.Gly75Arg,ENST00000379289,NM_001130045.1;TTLL10,missense_variant,p.Gly2Arg,ENST00000379288,NM_153254.2;TTLL10-AS1,upstream_gene_variant,,ENST00000379317,;TTLL10,upstream_gene_variant,,ENST00000460998,;TTLL10,upstream_gene_variant,,ENST00000486379,;TTLL10,upstream_gene_variant,,ENST00000514695,;	C	ENST00000379290	Transcript	missense_variant	396/2283	223/2022	75/673	G/R	Ggg/Cgg		1		1	TTLL10	HGNC	HGNC:26693	protein_coding	YES	CCDS44036.1	ENSP00000368592	Q6ZVT0		UPI0000205ADB		deleterious_low_confidence(0.04)		6/16		hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF110																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	1180057	1180057	G	C	1	0	0	0	0	1	0	0	0	17235	1232	43	4		4	TTLL10	1	1180057	Missense_Mutation	SNP	G	C3N-01489_TP	205583	1180057	247776365	2	26548											
CHD5	0	.	GRCh38	chr1	6142293	6142293	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagttgatgatggtggagagGggcgcgctaaccaggtaggg	9	7	19	6	2	0	3	0	2	0	1	0	4	0	3	1	6	1	3	1	6	2	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2271C>A	p.=	p.P757P	ENST00000262450	15/42	61	54	7	92	92	0	strelka-mutect	CHD5,synonymous_variant,p.=,ENST00000262450,NM_015557.2;CHD5,synonymous_variant,p.=,ENST00000496404,;CHD5,synonymous_variant,p.=,ENST00000462991,;	T	ENST00000262450	Transcript	synonymous_variant	2371/9646	2271/5865	757/1954	P	ccC/ccA		1		-1	CHD5	HGNC	HGNC:16816	protein_coding	YES	CCDS57.1	ENSP00000262450	Q8TDI0		UPI000006CD03	NM_015557.2			15/42		Gene3D:3.40.50.300,Pfam_domain:PF00176,PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583,SMART_domains:SM00487,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	6142293	6142293	G	T	1	0	0	0	0	0	0	0	1	3087	1219	43	2		2	CHD5	1	6142293	Silent	SNP	G	C3N-01489_TP	4962236	6142293	242814129	3	26549											
HES2	0	.	GRCh38	chr1	6419277	6419277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatgaggacgcaggcagctCctgcaggaagcgcacggtca	10	4	14	13	3	1	1	1	1	0	0	2	3	2	3	2	4	3	5	2	4	1	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.205G>A	p.Glu69Lys	p.E69K	ENST00000377834	3/4	253	229	24	360	359	1	strelka-varscan-mutect	HES2,missense_variant,p.Glu69Lys,ENST00000377834,NM_019089.4;HES2,missense_variant,p.Glu69Lys,ENST00000489730,;HES2,intron_variant,,ENST00000377837,;HES2,intron_variant,,ENST00000487437,;HES2,intron_variant,,ENST00000377836,;HES2,upstream_gene_variant,,ENST00000471190,;	T	ENST00000377834	Transcript	missense_variant	304/4262	205/522	69/173	E/K	Gag/Aag		1		-1	HES2	HGNC	HGNC:16005	protein_coding	YES	CCDS30574.1	ENSP00000367065	Q9Y543		UPI000012C617	NM_019089.4	deleterious(0.01)		3/4		Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF15,SMART_domains:SM00353,Superfamily_domains:SSF47459																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	6419277	6419277	C	T	1	0	0	0	0	1	0	0	0	6950	864	30	3		3	HES2	1	6419277	Missense_Mutation	SNP	C	C3N-01489_TP	276984	6419277	242537145	4	26550											
PRAMEF2	0	.	GRCh38	chr1	12859152	12859152	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccttcagcaggagacActtccagactctgacggtga	10	7	13	11	1	2	4	1	2	1	2	3	6	3	5	2	4	1	1	2	4	0	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.143A>C	p.His48Pro	p.H48P	ENST00000240189	2/4	530	501	29	892	891	1	varscan-mutect	PRAMEF2,missense_variant,p.His48Pro,ENST00000240189,NM_023014.1;	C	ENST00000240189	Transcript	missense_variant	230/1642	143/1425	48/474	H/P	cAc/cCc		1		1	PRAMEF2	HGNC	HGNC:28841	protein_coding	YES	CCDS149.1	ENSP00000240189	O60811		UPI0000139EF9	NM_023014.1	deleterious(0.04)		2/4		PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	12859152	12859152	A	C	1	0	0	0	0	1	0	0	0	12562	159	6	5		5	PRAMEF2	1	12859152	Missense_Mutation	SNP	A	C3N-01489_TP	6439875	12859152	236097270	5	26551											
ATP13A2	0	.	GRCh38	chr1	16990171	16990171	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactccatcggcaggaactCgagagaggcaggctgacccc	10	4	14	13	2	0	2	0	1	0	1	3	6	1	4	3	5	1	3	3	5	1	0	rs754208001		C3N-01489_TP	C3N-01489_NB	C	C																c.2368G>T	p.Glu790Ter	p.E790*	ENST00000326735	21/29	116	107	9	183	183	0	strelka-varscan-mutect	ATP13A2,stop_gained,p.Glu785Ter,ENST00000452699,NM_001141973.2;ATP13A2,stop_gained,p.Glu790Ter,ENST00000326735,NM_022089.3;ATP13A2,stop_gained,p.Glu785Ter,ENST00000341676,NM_001141974.2;ATP13A2,upstream_gene_variant,,ENST00000502418,;ATP13A2,downstream_gene_variant,,ENST00000503552,;RP1-37C10.3,intron_variant,,ENST00000446261,;ATP13A2,non_coding_transcript_exon_variant,,ENST00000466561,;	A	ENST00000326735	Transcript	stop_gained	2402/3840	2368/3543	790/1180	E/*	Gag/Tag	rs754208001,COSM3802889,COSM3802890	1		-1	ATP13A2	HGNC	HGNC:30213	protein_coding	YES	CCDS175.1	ENSP00000327214	Q9NQ11		UPI0000049724	NM_022089.3			21/29		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF86,TIGRFAM_domain:TIGR01657											0,1,1						HIGH	1	SNV	1		0,1,1	1										PASS		rs754208001	.												A	4	1	81	16990171	16990171	C	A	1	0	0	0	0	0	1	0	0	1276	893	31	1		1	ATP13A2	1	16990171	Nonsense_Mutation	SNP	C	C3N-01489_TP	4131019	16990171	231966251	6	26552											
ATP13A2	0	.	GRCh38	chr1	17000053	17000053	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcactcgccggccaccaGggcggcatcacagggcatca	9	4	12	16	3	2	0	2	0	0	0	3	0	2	0	3	4	1	3	3	4	0	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.997C>T	p.=	p.L333L	ENST00000326735	11/29	104	95	9	110	110	0	strelka-varscan-mutect	ATP13A2,synonymous_variant,p.=,ENST00000452699,NM_001141973.2;ATP13A2,synonymous_variant,p.=,ENST00000326735,NM_022089.3;ATP13A2,synonymous_variant,p.=,ENST00000341676,NM_001141974.2;ATP13A2,synonymous_variant,p.=,ENST00000617114,;ATP13A2,synonymous_variant,p.=,ENST00000510069,;ATP13A2,synonymous_variant,p.=,ENST00000506174,;ATP13A2,upstream_gene_variant,,ENST00000503552,;ATP13A2,downstream_gene_variant,,ENST00000509619,;ATP13A2,downstream_gene_variant,,ENST00000511957,;ATP13A2,downstream_gene_variant,,ENST00000508222,;RP1-37C10.3,intron_variant,,ENST00000446261,;ATP13A2,non_coding_transcript_exon_variant,,ENST00000463860,;ATP13A2,non_coding_transcript_exon_variant,,ENST00000502860,;ATP13A2,upstream_gene_variant,,ENST00000509392,;	A	ENST00000326735	Transcript	synonymous_variant	1031/3840	997/3543	333/1180	L	Ctg/Ttg		1		-1	ATP13A2	HGNC	HGNC:30213	protein_coding	YES	CCDS175.1	ENSP00000327214	Q9NQ11		UPI0000049724	NM_022089.3			11/29		Superfamily_domains:0049471,Gene3D:2.70.150.10,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF86,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01657																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	17000053	17000053	G	A	1	0	0	0	0	0	0	0	1	1276	991	35	3		3	ATP13A2	1	17000053	Silent	SNP	G	C3N-01489_TP	9882	17000053	231956369	7	26553											
PADI6	0	.	GRCh38	chr1	17394025	17394025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacaagacaacgtccttGatcctcgacacacctcaggc	11	6	6	18	2	1	2	1	1	0	1	4	3	3	2	5	1	1	0	5	1	2	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1125G>T	p.Leu375Phe	p.L375F	ENST00000619609	10/16	262	235	27	358	358	0	strelka-varscan-mutect	PADI6,missense_variant,p.Leu375Phe,ENST00000619609,NM_207421.4;	T	ENST00000619609	Transcript	missense_variant	1175/2396	1125/2085	375/694	L/F	ttG/ttT		1		1	PADI6	HGNC	HGNC:20449	protein_coding	YES	CCDS72715.1	ENSP00000483125	Q6TGC4		UPI0000253BE7	NM_207421.4	tolerated(0.09)		10/16		hmmpanther:PTHR10837:SF4,hmmpanther:PTHR10837,PIRSF_domain:PIRSF001247,Pfam_domain:PF03068,Superfamily_domains:SSF55909																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	17394025	17394025	G	T	1	0	0	0	0	1	0	0	0	11459	1281	45	2		2	PADI6	1	17394025	Missense_Mutation	SNP	G	C3N-01489_TP	393972	17394025	231562397	8	26554											
ALDH4A1	0	.	GRCh38	chr1	18889382	18889382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgacacttggtactgcacgtCcgacgtccacacctcctcat	8	9	7	17	4	1	0	1	0	0	0	4	2	4	0	4	1	2	2	4	1	1	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.229G>T	p.Asp77Tyr	p.D77Y	ENST00000375341	3/15	221	198	23	315	315	0	strelka-varscan-mutect	ALDH4A1,missense_variant,p.Asp77Tyr,ENST00000375341,NM_003748.3;ALDH4A1,missense_variant,p.Asp77Tyr,ENST00000538839,NM_001319218.1;ALDH4A1,missense_variant,p.Asp77Tyr,ENST00000290597,NM_170726.2;ALDH4A1,missense_variant,p.Asp17Tyr,ENST00000538309,NM_001161504.1;ALDH4A1,missense_variant,p.Asp77Tyr,ENST00000432718,;ALDH4A1,upstream_gene_variant,,ENST00000454547,;RP13-279N23.2,3_prime_UTR_variant,,ENST00000494072,;	A	ENST00000375341	Transcript	missense_variant	487/3363	229/1692	77/563	D/Y	Gac/Tac		1		-1	ALDH4A1	HGNC	HGNC:406	protein_coding	YES	CCDS188.1	ENSP00000364490	P30038	A0A024RAD8	UPI000007418C	NM_003748.3	deleterious(0.01)		3/15		hmmpanther:PTHR14516,hmmpanther:PTHR14516:SF1,Gene3D:3.40.605.10,TIGRFAM_domain:TIGR01236,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	18889382	18889382	C	A	1	0	0	0	0	1	0	0	0	601	855	30	2		2	ALDH4A1	1	18889382	Missense_Mutation	SNP	C	C3N-01489_TP	1495357	18889382	230067040	9	26555											
ARID1A	0	.	GRCh38	chr1	26731326	26731326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagccacagtctcaaccaCcacagctccagtcctctcag	11	6	6	18	0	2	0	2	0	2	0	6	0	4	0	5	0	4	2	5	0	1	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1525C>T	p.Pro509Ser	p.P509S	ENST00000324856	3/20	491	458	33	729	729	0	strelka-varscan-mutect	ARID1A,missense_variant,p.Pro509Ser,ENST00000324856,NM_006015.4;ARID1A,missense_variant,p.Pro128Ser,ENST00000636219,;ARID1A,missense_variant,p.Pro126Ser,ENST00000430799,;ARID1A,missense_variant,p.Pro126Ser,ENST00000374152,;ARID1A,missense_variant,p.Pro509Ser,ENST00000457599,NM_139135.2;ARID1A,missense_variant,p.Pro126Ser,ENST00000615191,;ARID1A,missense_variant,p.Pro126Ser,ENST00000637465,;ARID1A,downstream_gene_variant,,ENST00000524572,;	T	ENST00000324856	Transcript	missense_variant	1896/8577	1525/6858	509/2285	P/S	Cca/Tca		1		1	ARID1A	HGNC	HGNC:11110	protein_coding	YES	CCDS285.1	ENSP00000320485	O14497		UPI0000167B91	NM_006015.4	deleterious_low_confidence(0.03)		3/20		Low_complexity_(Seg):seg,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12																	MODERATE	1	SNV	1			1										PASS		rs1453816622	.												T	3	4	81	26731326	26731326	C	T	1	0	0	0	0	1	0	0	0	1049	507	18	3		3	ARID1A	1	26731326	Missense_Mutation	SNP	C	C3N-01489_TP	7841944	26731326	222225096	10	26556											
ARID1A	0	.	GRCh38	chr1	26779444	26779444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcactggcggattggtggggGggacaccactgagcatatcc	8	7	16	10	1	0	1	0	1	0	0	1	3	1	3	2	6	1	2	2	6	1	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.5546G>T	p.Gly1849Val	p.G1849V	ENST00000324856	20/20	211	183	28	316	316	0	strelka-varscan-mutect	ARID1A,missense_variant,p.Gly1849Val,ENST00000324856,NM_006015.4;ARID1A,missense_variant,p.Gly1467Val,ENST00000636219,;ARID1A,missense_variant,p.Gly1465Val,ENST00000430799,;ARID1A,missense_variant,p.Gly1466Val,ENST00000374152,;ARID1A,missense_variant,p.Gly1632Val,ENST00000457599,NM_139135.2;ARID1A,downstream_gene_variant,,ENST00000615191,;ARID1A,downstream_gene_variant,,ENST00000636794,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;ARID1A,non_coding_transcript_exon_variant,,ENST00000637788,;ARID1A,downstream_gene_variant,,ENST00000636072,;	T	ENST00000324856	Transcript	missense_variant	5917/8577	5546/6858	1849/2285	G/V	gGg/gTg		1		1	ARID1A	HGNC	HGNC:11110	protein_coding	YES	CCDS285.1	ENSP00000320485	O14497		UPI0000167B91	NM_006015.4	deleterious(0)		20/20		hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	26779444	26779444	G	T	1	0	0	0	0	1	0	0	0	1049	1232	43	2		2	ARID1A	1	26779444	Missense_Mutation	SNP	G	C3N-01489_TP	48118	26779444	222176978	11	26557											
WDTC1	0	.	GRCh38	chr1	27305091	27305091	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggtccgtgtgctccaaggGgatgagtccattgtcaactg	7	11	13	10	1	1	1	1	1	0	0	4	2	4	2	3	3	2	1	3	3	2	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1734G>T	p.=	p.G578G	ENST00000319394	15/16	185	150	35	221	221	0	strelka-varscan-mutect	WDTC1,synonymous_variant,p.=,ENST00000319394,NM_001276252.1;WDTC1,synonymous_variant,p.=,ENST00000361771,NM_015023.4;WDTC1,missense_variant,p.Gly559Val,ENST00000447062,;WDTC1,synonymous_variant,p.=,ENST00000472249,;WDTC1,non_coding_transcript_exon_variant,,ENST00000491239,;	T	ENST00000319394	Transcript	synonymous_variant	2269/4819	1734/2034	578/677	G	ggG/ggT		1		1	WDTC1	HGNC	HGNC:29175	protein_coding	YES	CCDS60044.1	ENSP00000317971	Q8N5D0		UPI000004814E	NM_001276252.1			15/16		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF40,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	27305091	27305091	G	T	1	0	0	0	0	0	0	0	1	17899	1219	43	2		2	WDTC1	1	27305091	Silent	SNP	G	C3N-01489_TP	525647	27305091	221651331	12	26558											
FCN3	0	.	GRCh38	chr1	27369357	27369357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaccattgagatttgatCggtaacaggatgcataccac	13	9	10	9	2	0	2	0	2	0	1	1	5	0	3	2	2	4	2	2	2	2	4	rs143244488		C3N-01489_TP	C3N-01489_NB	C	C																c.779G>T	p.Arg260Leu	p.R260L	ENST00000270879	8/8	382	320	62	551	551	0	strelka-varscan-mutect	FCN3,missense_variant,p.Arg260Leu,ENST00000270879,NM_003665.2;FCN3,missense_variant,p.Arg249Leu,ENST00000354982,NM_173452.1;MAP3K6,upstream_gene_variant,,ENST00000374040,NM_001297609.1;MAP3K6,upstream_gene_variant,,ENST00000493901,NM_004672.4;MAP3K6,upstream_gene_variant,,ENST00000357582,;FCN3,downstream_gene_variant,,ENST00000481748,;FCN3,downstream_gene_variant,,ENST00000498393,;	A	ENST00000270879	Transcript	missense_variant	785/1030	779/900	260/299	R/L	cGa/cTa	rs143244488,COSM1502553,COSM907868	1		-1	FCN3	HGNC	HGNC:3625	protein_coding	YES	CCDS300.1	ENSP00000270879	O75636		UPI00000343FF	NM_003665.2	tolerated(0.67)		8/8		PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF215,PROSITE_patterns:PS00514,Pfam_domain:PF00147,Gene3D:4.10.530.10,SMART_domains:SM00186,Superfamily_domains:SSF56496											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs143244488	.												A	3	1	81	27369357	27369357	C	A	1	0	0	0	0	1	0	0	0	5656	884	31	1		1	FCN3	1	27369357	Missense_Mutation	SNP	C	C3N-01489_TP	64266	27369357	221587065	13	26559											
RCC1	0	.	GRCh38	chr1	28532234	28532234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acacatcagtggagggctcgGagatggtccctgggaaagtg	10	7	16	8	1	1	1	1	0	0	1	3	4	2	3	1	5	0	1	1	5	1	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.418G>A	p.Glu140Lys	p.E140K	ENST00000373831	5/11	217	191	26	351	351	0	strelka-varscan-mutect	RCC1,missense_variant,p.Glu109Lys,ENST00000373833,;RCC1,missense_variant,p.Glu109Lys,ENST00000398958,NM_001048199.2;RCC1,missense_variant,p.Glu109Lys,ENST00000373832,NM_001269.4;RCC1,missense_variant,p.Glu140Lys,ENST00000373831,NM_001048195.2,NM_001048194.2;RCC1,missense_variant,p.Glu126Lys,ENST00000411533,;RCC1,missense_variant,p.Glu109Lys,ENST00000430407,;RCC1,missense_variant,p.Glu117Lys,ENST00000434290,;RCC1,missense_variant,p.Glu109Lys,ENST00000419074,;RCC1,missense_variant,p.Glu109Lys,ENST00000427469,;RCC1,downstream_gene_variant,,ENST00000486790,;RCC1,non_coding_transcript_exon_variant,,ENST00000429051,;RCC1,upstream_gene_variant,,ENST00000478232,;	A	ENST00000373831	Transcript	missense_variant	479/1577	418/1359	140/452	E/K	Gag/Aag		1		1	RCC1	HGNC	HGNC:1913	protein_coding	YES	CCDS41295.1	ENSP00000362937	P18754	A0A0S2Z404	UPI0000204066	NM_001048195.2,NM_001048194.2	deleterious(0.03)		5/11		Gene3D:2.130.10.30,Pfam_domain:PF00415,PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF179,Superfamily_domains:SSF50985																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	28532234	28532234	G	A	1	0	0	0	0	1	0	0	0	13342	1175	41	3		3	RCC1	1	28532234	Missense_Mutation	SNP	G	C3N-01489_TP	1162877	28532234	220424188	14	26560											
ADGRB2	0	.	GRCh38	chr1	31740121	31740121	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgcacctgctgagcatCgtcccacttctccttgtttt	4	13	7	17	2	1	1	0	1	1	0	4	1	2	1	5	0	2	4	5	0	0	4			C3N-01489_TP	C3N-01489_NB	C	C																c.2047G>T	p.Asp683Tyr	p.D683Y	ENST00000373655	13/33	289	268	21	390	388	2	strelka-varscan-mutect	ADGRB2,missense_variant,p.Asp683Tyr,ENST00000373658,;ADGRB2,missense_variant,p.Asp683Tyr,ENST00000373655,NM_001294335.1;ADGRB2,missense_variant,p.Asp616Tyr,ENST00000398542,;ADGRB2,missense_variant,p.Asp683Tyr,ENST00000527361,NM_001294336.1;ADGRB2,missense_variant,p.Asp631Tyr,ENST00000398556,;ADGRB2,missense_variant,p.Asp616Tyr,ENST00000398547,;ADGRB2,missense_variant,p.Asp671Tyr,ENST00000398538,;ADGRB2,missense_variant,p.Asp621Tyr,ENST00000420125,;ADGRB2,downstream_gene_variant,,ENST00000533175,;ADGRB2,intron_variant,,ENST00000530134,;ADGRB2,downstream_gene_variant,,ENST00000468430,;ADGRB2,upstream_gene_variant,,ENST00000465256,;ADGRB2,upstream_gene_variant,,ENST00000530999,;ADGRB2,upstream_gene_variant,,ENST00000466109,;	A	ENST00000373655	Transcript	missense_variant	2389/5400	2047/4755	683/1584	D/Y	Gat/Tat	COSM4168571	1		-1	ADGRB2	HGNC	HGNC:944	protein_coding	YES	CCDS72747.1	ENSP00000362759	O60241		UPI000046FEC7	NM_001294335.1	deleterious(0)		13/33		hmmpanther:PTHR12011:SF41,hmmpanther:PTHR12011,Pfam_domain:PF16489,Prints_domain:PR01694											1						MODERATE	1	SNV	1		1	1										PASS		rs1471496906	.												A	3	1	81	31740121	31740121	C	A	1	0	0	0	0	1	0	0	0	356	884	31	1		1	ADGRB2	1	31740121	Missense_Mutation	SNP	C	C3N-01489_TP	3207887	31740121	217216301	15	26561											
TRIM62	0	.	GRCh38	chr1	33165561	33165561	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaagttggtccttcagCtccctctgaaacacacacag	10	9	8	14	0	2	2	1	2	1	0	4	2	4	2	3	1	2	2	3	1	2	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.414G>A	p.=	p.E138E	ENST00000291416	2/5	38	31	7	77	77	0	strelka-varscan-mutect	TRIM62,synonymous_variant,p.=,ENST00000291416,NM_018207.2;TRIM62,synonymous_variant,p.=,ENST00000543586,;RP11-131M11.3,non_coding_transcript_exon_variant,,ENST00000624339,;TRIM62,non_coding_transcript_exon_variant,,ENST00000485148,;	T	ENST00000291416	Transcript	synonymous_variant	648/3437	414/1428	138/475	E	gaG/gaA		1		-1	TRIM62	HGNC	HGNC:25574	protein_coding	YES	CCDS376.1	ENSP00000291416	Q9BVG3		UPI000004E050	NM_018207.2			2/5		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF30,Superfamily_domains:SSF57845,Coiled-coils_(Ncoils):Coil																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	33165561	33165561	C	T	1	0	0	0	0	0	0	0	1	17029	811	28	3		3	TRIM62	1	33165561	Silent	SNP	C	C3N-01489_TP	1425440	33165561	215790861	16	26562											
RSPO1	0	.	GRCh38	chr1	37616662	37616662	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctttggcacaggcctggctCccctcggcactgactgcaaa	7	8	10	16	1	0	1	0	1	0	0	2	1	1	1	4	4	1	4	4	4	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.108G>A	p.=	p.G36G	ENST00000356545	4/7	181	158	23	262	261	1	strelka-varscan-mutect	RSPO1,synonymous_variant,p.=,ENST00000356545,NM_001242908.1;RSPO1,synonymous_variant,p.=,ENST00000612451,NM_001242910.1;RSPO1,synonymous_variant,p.=,ENST00000615459,NM_001242909.1;RSPO1,synonymous_variant,p.=,ENST00000401068,NM_001038633.3;	T	ENST00000356545	Transcript	synonymous_variant	821/2621	108/792	36/263	G	ggG/ggA		1		-1	RSPO1	HGNC	HGNC:21679	protein_coding	YES	CCDS41304.1	ENSP00000348944	Q2MKA7		UPI0000674A16	NM_001242908.1			4/7		hmmpanther:PTHR23275,hmmpanther:PTHR23275:SF44,SMART_domains:SM00261																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	37616662	37616662	C	T	1	0	0	0	0	0	0	0	1	13967	842	30	3		3	RSPO1	1	37616662	Silent	SNP	C	C3N-01489_TP	4451101	37616662	211339760	17	26563											
EPHA10	0	.	GRCh38	chr1	37761481	37761481	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccagccactcgccgtcGgcgccgcagtgcatgcgtgg	5	5	15	16	6	0	0	0	0	0	0	2	0	0	0	4	3	3	3	4	3	0	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.774C>G	p.=	p.A258A	ENST00000373048	3/17	136	128	8	232	232	0	strelka-varscan-mutect	EPHA10,synonymous_variant,p.=,ENST00000373048,NM_001099439.1;EPHA10,synonymous_variant,p.=,ENST00000427468,;EPHA10,synonymous_variant,p.=,ENST00000319637,NM_173641.2;EPHA10,upstream_gene_variant,,ENST00000446149,;	C	ENST00000373048	Transcript	synonymous_variant	774/5425	774/3027	258/1008	A	gcC/gcG		1		-1	EPHA10	HGNC	HGNC:19987	protein_coding	YES	CCDS41305.1	ENSP00000362139	Q5JZY3		UPI00001A41BD	NM_001099439.1			3/17		Gene3D:2gy5A03,PIRSF_domain:PIRSF000666,PROSITE_patterns:PS00791,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF258																	LOW	1	SNV	5			1										PASS		rs1221302559	.												C	2	2	81	37761481	37761481	G	C	1	0	0	0	0	0	0	0	1	5013	1103	39	4		4	EPHA10	1	37761481	Silent	SNP	G	C3N-01489_TP	144819	37761481	211194941	18	26564											
AGBL4	0	.	GRCh38	chr1	48634561	48634561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatggacccatggagaggGatccagccagtgacgattca	12	6	14	9	1	1	2	1	1	0	1	2	7	2	5	3	4	1	0	3	4	0	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.883C>A	p.Pro295Thr	p.P295T	ENST00000371839	9/14	134	124	10	191	191	0	strelka-varscan-mutect	AGBL4,missense_variant,p.Pro141Thr,ENST00000416121,;AGBL4,missense_variant,p.Pro295Thr,ENST00000371839,NM_032785.3;AGBL4,missense_variant,p.Pro295Thr,ENST00000371838,;AGBL4,missense_variant,p.Pro84Thr,ENST00000334103,;	T	ENST00000371839	Transcript	missense_variant	1000/2947	883/1512	295/503	P/T	Ccc/Acc		1		-1	AGBL4	HGNC	HGNC:25892	protein_coding	YES	CCDS44137.1	ENSP00000360905	Q5VU57		UPI00002042F9	NM_032785.3	tolerated(0.08)		9/14		Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR12756,SMART_domains:SM00631,Superfamily_domains:SSF53187																	MODERATE	1	SNV	2			1										PASS		rs1352783869	.												T	3	4	81	48634561	48634561	G	T	1	0	0	0	0	1	0	0	0	454	1174	41	2		2	AGBL4	1	48634561	Missense_Mutation	SNP	G	C3N-01489_TP	10873080	48634561	200321861	19	26565											
ZFYVE9	0	.	GRCh38	chr1	52239586	52239586	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcatcactgcagagcAtgtgggaaggtaagttgcat	12	8	15	6	0	1	1	1	0	0	1	1	3	1	3	0	4	3	6	0	4	2	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.2169A>T	p.=	p.A723A	ENST00000287727	4/19	65	57	8	117	117	0	strelka-varscan-mutect	ZFYVE9,synonymous_variant,p.=,ENST00000287727,NM_004799.3;ZFYVE9,synonymous_variant,p.=,ENST00000371591,;ZFYVE9,synonymous_variant,p.=,ENST00000357206,NM_007324.3;ZFYVE9,non_coding_transcript_exon_variant,,ENST00000361625,;	T	ENST00000287727	Transcript	synonymous_variant	2621/5194	2169/4278	723/1425	A	gcA/gcT		1		1	ZFYVE9	HGNC	HGNC:6775	protein_coding	YES	CCDS563.1	ENSP00000287727	O95405		UPI0000001620	NM_004799.3			4/19		PROSITE_profiles:PS50178,hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF265,Pfam_domain:PF01363,Gene3D:3.30.40.10,SMART_domains:SM00064,Superfamily_domains:SSF57903																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	81	52239586	52239586	A	T	1	0	0	0	0	0	0	0	1	18248	204	8	4		4	ZFYVE9	1	52239586	Silent	SNP	A	C3N-01489_TP	3605025	52239586	196716836	20	26566											
PODN	0	.	GRCh38	chr1	53082140	53082140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaagaggaggaggaGgaggaagaggaaacaagata	19	1	20	1	0	0	3	0	0	0	3	0	12	0	11	0	8	1	0	0	8	5	1	rs756994868		C3N-01489_TP	C3N-01489_NB	G	G																c.1965G>T	p.Glu655Asp	p.E655D	ENST00000312553	10/11	73	65	8	104	104	0	strelka-varscan-mutect	PODN,missense_variant,p.Glu636Asp,ENST00000371500,NM_001199080.1;PODN,missense_variant,p.Glu636Asp,ENST00000618387,NM_001199081.1;PODN,missense_variant,p.Glu655Asp,ENST00000312553,NM_153703.4;PODN,missense_variant,p.Glu513Asp,ENST00000395871,NM_001199082.1;RP11-334A14.5,intron_variant,,ENST00000447867,;PODN,non_coding_transcript_exon_variant,,ENST00000490650,;PODN,downstream_gene_variant,,ENST00000471285,;	T	ENST00000312553	Transcript	missense_variant	1972/3010	1965/1986	655/661	E/D	gaG/gaT	rs756994868	1		1	PODN	HGNC	HGNC:23174	protein_coding	YES	CCDS573.1	ENSP00000308315	Q7Z5L7		UPI000034ECE9	NM_153703.4	deleterious_low_confidence(0)		10/11		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF12,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs756994868	.												T	3	4	81	53082140	53082140	G	T	1	0	0	0	0	1	0	0	0	12287	991	35	2		2	PODN	1	53082140	Missense_Mutation	SNP	G	C3N-01489_TP	842554	53082140	195874282	21	26567											
SLC1A7	0	.	GRCh38	chr1	53105754	53105754	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttgaatgtggcttctactAggttggctgggaacatgttc	7	15	13	6	0	1	1	0	1	1	0	2	2	1	2	0	4	2	5	0	4	4	6	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.452T>A	p.Leu151Gln	p.L151Q	ENST00000620347	4/11	230	200	30	326	325	1	strelka-varscan-mutect	SLC1A7,missense_variant,p.Leu151Gln,ENST00000620288,;SLC1A7,missense_variant,p.Leu151Gln,ENST00000620347,NM_001287595.1;SLC1A7,missense_variant,p.Leu151Gln,ENST00000371494,NM_006671.5;SLC1A7,missense_variant,p.Leu79Gln,ENST00000611397,NM_001287597.1;SLC1A7,downstream_gene_variant,,ENST00000371491,NM_001287596.1;	T	ENST00000620347	Transcript	missense_variant	635/2873	452/1860	151/619	L/Q	cTa/cAa		1		-1	SLC1A7	HGNC	HGNC:10945	protein_coding	YES	CCDS72797.1	ENSP00000478639		A0A087WUF9	UPI000387D8A4	NM_001287595.1	deleterious(0)		4/11		hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF22,Gene3D:2nwlC00,Pfam_domain:PF00375,Superfamily_domains:0053221																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	53105754	53105754	A	T	1	0	0	0	0	1	0	0	0	14703	420	15	4		4	SLC1A7	1	53105754	Missense_Mutation	SNP	A	C3N-01489_TP	23614	53105754	195850668	22	26568											
NDC1	0	.	GRCh38	chr1	53825862	53825862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaggaggctatagctatagCccataaatgctccagtcagt	13	9	9	10	0	1	0	1	0	0	0	2	1	2	1	2	2	3	3	2	2	6	5			C3N-01489_TP	C3N-01489_NB	C	C																c.530G>T	p.Gly177Val	p.G177V	ENST00000371429	5/18	168	152	16	232	231	1	strelka-varscan-mutect	NDC1,missense_variant,p.Gly177Val,ENST00000371429,NM_001168551.1,NM_018087.4;NDC1,non_coding_transcript_exon_variant,,ENST00000480952,;	A	ENST00000371429	Transcript	missense_variant	1129/5134	530/2025	177/674	G/V	gGc/gTc	COSM4879885	1		-1	NDC1	HGNC	HGNC:25525	protein_coding	YES	CCDS583.1	ENSP00000360483	Q9BTX1		UPI000006D8F7	NM_001168551.1,NM_018087.4	deleterious(0)		5/18		Transmembrane_helices:TMhelix,hmmpanther:PTHR13269:SF6,hmmpanther:PTHR13269,Pfam_domain:PF09531											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	81	53825862	53825862	C	A	1	0	0	0	0	1	0	0	0	10262	739	26	2		2	NDC1	1	53825862	Missense_Mutation	SNP	C	C3N-01489_TP	720108	53825862	195130560	23	26569											
MROH7	0	.	GRCh38	chr1	54686393	54686393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaacctgcctggctgcgtgGctcctcccaaggacaccaag	8	7	10	16	1	1	0	1	0	0	0	3	1	3	1	5	3	3	2	5	3	3	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2656G>T	p.Ala886Ser	p.A886S	ENST00000421030	15/24	237	214	23	274	274	0	strelka-varscan-mutect	MROH7,missense_variant,p.Ala886Ser,ENST00000421030,NM_001039464.3;MROH7,missense_variant,p.Ala886Ser,ENST00000339553,;MROH7,missense_variant,p.Ala886Ser,ENST00000395690,;MROH7,missense_variant,p.Ala454Ser,ENST00000409996,NM_001291332.1;MROH7-TTC4,missense_variant,p.Ala886Ser,ENST00000414150,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000425300,;MROH7-TTC4,3_prime_UTR_variant,,ENST00000606515,;MROH7,3_prime_UTR_variant,,ENST00000422659,;MROH7,3_prime_UTR_variant,,ENST00000440047,;MROH7,3_prime_UTR_variant,,ENST00000438846,;MROH7,3_prime_UTR_variant,,ENST00000440217,;MROH7,non_coding_transcript_exon_variant,,ENST00000493533,;MROH7,intron_variant,,ENST00000413188,;	T	ENST00000421030	Transcript	missense_variant	2941/4329	2656/3972	886/1323	A/S	Gct/Tct		1		1	MROH7	HGNC	HGNC:24802	protein_coding	YES	CCDS41342.2	ENSP00000396622	Q68CQ1		UPI000198C4E2	NM_001039464.3	tolerated(0.46)		15/24		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF17																	MODERATE	1	SNV	2			1										PASS		rs1330756620	.												T	3	4	81	54686393	54686393	G	T	1	0	0	0	0	1	0	0	0	9747	1203	42	2		2	MROH7	1	54686393	Missense_Mutation	SNP	G	C3N-01489_TP	860531	54686393	194270029	24	26570											
PARS2	0	.	GRCh38	chr1	54758991	54758991	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatttgtcctgcagggaGagcacccggtcttcccgaag	8	9	12	12	2	2	2	1	0	1	2	4	4	4	2	3	2	2	2	3	2	1	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.171C>A	p.=	p.L57L	ENST00000371279	2/2	89	82	7	113	113	0	strelka-varscan-mutect	PARS2,synonymous_variant,p.=,ENST00000371279,NM_152268.3;	T	ENST00000371279	Transcript	synonymous_variant	254/2347	171/1428	57/475	L	ctC/ctA		1		-1	PARS2	HGNC	HGNC:30563	protein_coding	YES	CCDS597.1	ENSP00000360327	Q7L3T8		UPI00000492D2	NM_152268.3			2/2		PROSITE_profiles:PS50862																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	54758991	54758991	G	T	1	0	0	0	0	0	0	0	1	11548	929	33	2		2	PARS2	1	54758991	Silent	SNP	G	C3N-01489_TP	72598	54758991	194197431	25	26571											
AK4	0	.	GRCh38	chr1	65224782	65224782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcactggtgaaccgttaGtccagcaggaggatgataaa	13	8	12	8	2	1	2	1	2	0	0	2	4	2	4	2	3	2	2	2	3	4	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.469G>A	p.Val157Ile	p.V157I	ENST00000395334	5/6	122	109	13	212	212	0	strelka-varscan-mutect	AK4,missense_variant,p.Val157Ile,ENST00000395334,NM_001005353.2;AK4,missense_variant,p.Val157Ile,ENST00000545314,NM_203464.2;AK4,missense_variant,p.Val157Ile,ENST00000327299,NM_013410.3;AK4,missense_variant,p.Val105Ile,ENST00000546702,;AK4,non_coding_transcript_exon_variant,,ENST00000470888,;AK4,non_coding_transcript_exon_variant,,ENST00000474968,;AK4,non_coding_transcript_exon_variant,,ENST00000479060,;AK4,non_coding_transcript_exon_variant,,ENST00000497030,;	A	ENST00000395334	Transcript	missense_variant	827/6998	469/672	157/223	V/I	Gtc/Atc		1		1	AK4	HGNC	HGNC:363	protein_coding	YES	CCDS629.1	ENSP00000378743	P27144		UPI000011E13C	NM_001005353.2	tolerated(0.57)		5/6		HAMAP:MF_03169,HAMAP:MF_03170,HAMAP:MF_00235,hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF58,TIGRFAM_domain:TIGR01351,Gene3D:3.40.50.300,Pfam_domain:PF00406,Pfam_domain:PF05191,Superfamily_domains:SSF57774																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	65224782	65224782	G	A	1	0	0	0	0	1	0	0	0	521	1029	36	3		3	AK4	1	65224782	Missense_Mutation	SNP	G	C3N-01489_TP	10465791	65224782	183731640	26	26572											
INSL5	0	.	GRCh38	chr1	66798126	66798126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttccaaagctcttcagtggGcatctgtccaccccaaagac	10	9	7	15	0	3	1	1	0	2	1	5	1	5	1	4	1	1	2	4	1	2	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.295C>A	p.Pro99Thr	p.P99T	ENST00000304526	2/2	259	238	21	409	409	0	strelka-varscan-mutect	INSL5,missense_variant,p.Pro99Thr,ENST00000304526,NM_005478.4;	T	ENST00000304526	Transcript	missense_variant	330/715	295/408	99/135	P/T	Ccc/Acc		1		-1	INSL5	HGNC	HGNC:6088	protein_coding	YES	CCDS634.1	ENSP00000302724	Q9Y5Q6		UPI000013E991	NM_005478.4	deleterious(0.01)		2/2		Pfam_domain:PF00049,hmmpanther:PTHR20968,hmmpanther:PTHR20968:SF2,SMART_domains:SM00078																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	66798126	66798126	G	T	1	0	0	0	0	1	0	0	0	7671	1203	42	2		2	INSL5	1	66798126	Missense_Mutation	SNP	G	C3N-01489_TP	1573344	66798126	182158296	27	26573											
LRRC53	0	.	GRCh38	chr1	74480825	74480825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaacatcgtaagcccatGcagggcatcttcctgaacat	11	8	8	14	2	1	1	0	1	1	0	3	1	2	1	3	1	4	4	3	1	3	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.232C>A	p.His78Asn	p.H78N	ENST00000294635	3/5	344	320	24	462	461	1	strelka-varscan-mutect	LRRC53,missense_variant,p.His78Asn,ENST00000294635,;TNNI3K,intron_variant,,ENST00000326637,NM_015978.2;FPGT-TNNI3K,intron_variant,,ENST00000557284,NM_001112808.2;	T	ENST00000294635	Transcript	missense_variant	347/3859	232/3744	78/1247	H/N	Cat/Aat		1		-1	LRRC53	HGNC	HGNC:25255	protein_coding	YES		ENSP00000294635	A6NM62		UPI000178DEDE		tolerated(0.23)		3/5		Low_complexity_(Seg):seg,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF379,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	81	74480825	74480825	G	T	1	0	0	0	0	1	0	0	0	8905	1319	46	2		2	LRRC53	1	74480825	Missense_Mutation	SNP	G	C3N-01489_TP	7682699	74480825	174475597	28	26574											
ST6GALNAC3	0	.	GRCh38	chr1	76412077	76412077	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agatggttggccagaaggtgGgaaatgagatagatcgatcc	13	8	15	5	1	0	4	0	1	0	4	2	7	1	5	2	4	0	1	2	4	3	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.283G>T	p.Gly95Ter	p.G95*	ENST00000328299	3/5	207	187	20	286	286	0	strelka-varscan-mutect	ST6GALNAC3,stop_gained,p.Gly95Ter,ENST00000328299,NM_152996.2;ST6GALNAC3,stop_gained,p.Gly24Ter,ENST00000621530,;ST6GALNAC3,non_coding_transcript_exon_variant,,ENST00000464140,;	T	ENST00000328299	Transcript	stop_gained	431/6861	283/918	95/305	G/*	Gga/Tga		1		1	ST6GALNAC3	HGNC	HGNC:19343	protein_coding	YES	CCDS672.1	ENSP00000329214	Q8NDV1		UPI000006F75A	NM_152996.2			3/5		Pfam_domain:PF00777,hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF49																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	81	76412077	76412077	G	T	1	0	0	0	0	0	1	0	0	15603	1233	43	2		2	ST6GALNAC3	1	76412077	Nonsense_Mutation	SNP	G	C3N-01489_TP	1931252	76412077	172544345	29	26575											
AK5	0	.	GRCh38	chr1	77340517	77340517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactaatgaacttcaagcaGaatgctgctccattggttaa	14	11	8	8	0	1	3	1	1	0	2	2	3	2	3	1	1	4	4	1	1	5	4	rs777885275		C3N-01489_TP	C3N-01489_NB	G	G																c.840G>T	p.Gln280His	p.Q280H	ENST00000354567	6/14	173	157	16	262	262	0	strelka-varscan-mutect	AK5,missense_variant,p.Gln254His,ENST00000344720,NM_012093.3;AK5,missense_variant,p.Gln280His,ENST00000354567,NM_174858.2;AK5,non_coding_transcript_exon_variant,,ENST00000524494,;AK5,non_coding_transcript_exon_variant,,ENST00000465146,;	T	ENST00000354567	Transcript	missense_variant	1103/3251	840/1689	280/562	Q/H	caG/caT	rs777885275,COSM4560372	1		1	AK5	HGNC	HGNC:365	protein_coding	YES	CCDS675.1	ENSP00000346577	Q9Y6K8		UPI0000167E20	NM_174858.2	deleterious(0.04)		6/14		HAMAP:MF_00235,hmmpanther:PTHR23359:SF79,hmmpanther:PTHR23359,Pfam_domain:PF00406,Gene3D:3.40.50.300,Superfamily_domains:SSF52540											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs777885275	.												T	3	4	81	77340517	77340517	G	T	1	0	0	0	0	1	0	0	0	522	933	33	2		2	AK5	1	77340517	Missense_Mutation	SNP	G	C3N-01489_TP	928440	77340517	171615905	30	26576											
CLCA4	0	.	GRCh38	chr1	86560240	86560240	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atagttgcaccacctacactCccaggtagagatgaaccata	14	8	7	12	0	0	2	0	1	0	1	1	3	1	2	4	1	3	3	4	1	5	5			C3N-01489_TP	C3N-01489_NB	C	C																c.330C>A	p.=	p.L110L	ENST00000370563	3/14	135	126	9	203	202	1	strelka-varscan-mutect	CLCA4,synonymous_variant,p.=,ENST00000370563,NM_012128.3;	A	ENST00000370563	Transcript	synonymous_variant	372/3211	330/2760	110/919	L	ctC/ctA	COSM4488326	1		1	CLCA4	HGNC	HGNC:2018	protein_coding	YES	CCDS41355.1	ENSP00000359594	Q14CN2		UPI00000389E8	NM_012128.3			3/14		hmmpanther:PTHR10579:SF2,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868,Pfam_domain:PF08434											1						LOW	1	SNV	1		1	1										PASS		rs1343178324	.												A	2	1	81	86560240	86560240	C	A	1	0	0	0	0	0	0	0	1	3223	842	30	2		2	CLCA4	1	86560240	Silent	SNP	C	C3N-01489_TP	9219723	86560240	162396182	31	26577											
AC096949.1	0	.	GRCh38	chr1	99864435	99864435	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagactcttggactatctagGtcatgctactcccttgccaa	9	12	7	13	0	3	1	1	0	2	1	4	2	4	2	2	2	3	1	2	2	4	5	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.510G>A	p.=	p.R170R	ENST00000294724	5/34	347	312	35	498	498	0	strelka-varscan-mutect	AGL,synonymous_variant,p.=,ENST00000294724,NM_000028.2;AGL,synonymous_variant,p.=,ENST00000361915,NM_000642.2;AGL,synonymous_variant,p.=,ENST00000370163,NM_000643.2;AGL,synonymous_variant,p.=,ENST00000370165,NM_000644.2;AGL,synonymous_variant,p.=,ENST00000370161,NM_000646.2;AC096949.1,synonymous_variant,p.=,ENST00000361522,NM_000645.2;AGL,3_prime_UTR_variant,,ENST00000361302,;AGL,non_coding_transcript_exon_variant,,ENST00000637337,;	A	ENST00000294724	Transcript	synonymous_variant	988/7446	510/4599	170/1532	R	agG/agA		1		1	AGL	HGNC	HGNC:321	protein_coding	YES	CCDS759.1	ENSP00000294724	P35573	A0A0S2A4E4	UPI00001694CB	NM_000028.2			5/34		hmmpanther:PTHR10569,TIGRFAM_domain:TIGR01531,Pfam_domain:PF14701,Gene3D:3.20.20.80,Superfamily_domains:SSF51445																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	99864435	99864435	G	A	1	0	0	0	0	0	0	0	1	135	1252	44	3		3	AC096949.1	1	99864435	Silent	SNP	G	C3N-01489_TP	13304195	99864435	149091987	32	26578											
RNPC3	0	.	GRCh38	chr1	103534799	103534799	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaccctgtcgaagatgatAaagaaaaaaaagaacttggt	19	8	9	5	1	0	5	0	2	0	3	1	6	0	5	1	1	1	0	1	1	8	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.385A>G	p.Lys129Glu	p.K129E	ENST00000533099	5/16	131	123	8	233	233	0	strelka-varscan-mutect	RNPC3,missense_variant,p.Lys129Glu,ENST00000533099,;RNPC3,missense_variant,p.Lys129Glu,ENST00000524631,;RNPC3,missense_variant,p.Lys129Glu,ENST00000423855,NM_017619.3;RNPC3,missense_variant,p.Lys129Glu,ENST00000531883,;RNPC3,5_prime_UTR_variant,,ENST00000527062,;RNPC3,upstream_gene_variant,,ENST00000533834,;	G	ENST00000533099	Transcript	missense_variant	621/3641	385/1554	129/517	K/E	Aaa/Gaa		1		1	RNPC3	HGNC	HGNC:18666	protein_coding	YES	CCDS781.1	ENSP00000432886	Q96LT9		UPI000006E703		tolerated(0.16)		5/16		Low_complexity_(Seg):seg,hmmpanther:PTHR16105,hmmpanther:PTHR16105:SF0																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	81	103534799	103534799	A	G	1	0	0	0	0	1	0	0	0	13687	363	13	5		5	RNPC3	1	103534799	Missense_Mutation	SNP	A	C3N-01489_TP	3670364	103534799	145421623	33	26579											
AMY2B	0	.	GRCh38	chr1	103573216	103573216	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttaatgatggtaaatgtAaaactggaagtggagatatc	16	13	10	2	0	0	2	0	1	0	1	1	4	0	3	0	3	1	2	0	3	7	5	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.469A>G	p.Lys157Glu	p.K157E	ENST00000361355	5/12	208	187	21	345	345	0	varscan-mutect	AMY2B,missense_variant,p.Lys157Glu,ENST00000361355,NM_020978.4;AMY2B,missense_variant,p.Lys157Glu,ENST00000610648,;AMY2B,downstream_gene_variant,,ENST00000453959,;AMY2B,downstream_gene_variant,,ENST00000435302,;AMY2B,non_coding_transcript_exon_variant,,ENST00000491397,;AMY2B,upstream_gene_variant,,ENST00000481821,;AMY2B,upstream_gene_variant,,ENST00000462971,;AMY2B,missense_variant,p.Lys157Glu,ENST00000477657,;ACTG1P4,downstream_gene_variant,,ENST00000425123,;	G	ENST00000361355	Transcript	missense_variant	1085/2181	469/1536	157/511	K/E	Aaa/Gaa		1		1	AMY2B	HGNC	HGNC:478	protein_coding	YES	CCDS782.1	ENSP00000354610	P19961		UPI0000000CB1	NM_020978.4	tolerated(0.76)		5/12		hmmpanther:PTHR10357:SF105,hmmpanther:PTHR10357,Gene3D:3.20.20.80,Pfam_domain:PF00128,SMART_domains:SM00642,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	103573216	103573216	A	G	1	0	0	0	0	1	0	0	0	692	363	13	5		5	AMY2B	1	103573216	Missense_Mutation	SNP	A	C3N-01489_TP	38417	103573216	145383206	34	26580											
NTNG1	0	.	GRCh38	chr1	107324349	107324349	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcacacccccctgagcTgatgtttgattttgaaggaa	9	11	11	10	0	0	4	0	4	0	0	0	5	0	5	3	2	1	4	3	2	2	3	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.314T>A	p.Leu105Gln	p.L105Q	ENST00000370068	3/8	172	146	26	282	281	1	strelka-varscan-mutect	NTNG1,missense_variant,p.Leu105Gln,ENST00000370067,;NTNG1,missense_variant,p.Leu105Gln,ENST00000370068,;NTNG1,missense_variant,p.Leu105Gln,ENST00000370073,NM_001113226.1;NTNG1,missense_variant,p.Leu105Gln,ENST00000370071,NM_001113228.1;NTNG1,missense_variant,p.Leu105Gln,ENST00000370074,NM_014917.2;NTNG1,missense_variant,p.Leu105Gln,ENST00000370065,;NTNG1,missense_variant,p.Leu105Gln,ENST00000370066,;NTNG1,non_coding_transcript_exon_variant,,ENST00000477948,;NTNG1,non_coding_transcript_exon_variant,,ENST00000294649,;	A	ENST00000370068	Transcript	missense_variant	1160/4034	314/1620	105/539	L/Q	cTg/cAg		1		1	NTNG1	HGNC	HGNC:23319	protein_coding	YES	CCDS44180.1	ENSP00000359085	Q9Y2I2		UPI0000458A3E		deleterious(0)		3/8		PROSITE_profiles:PS51117,hmmpanther:PTHR10574:SF28,hmmpanther:PTHR10574,Gene3D:2.60.120.260,Pfam_domain:PF00055,SMART_domains:SM00136																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	81	107324349	107324349	T	A	1	0	0	0	0	1	0	0	0	10769	1580	55	4		4	NTNG1	1	107324349	Missense_Mutation	SNP	T	C3N-01489_TP	3751133	107324349	141632073	35	26581											
NTNG1	0	.	GRCh38	chr1	107324505	107324505	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctttgaatctgggcgtcCagaccaaatgatcctggaga	11	10	10	10	1	1	4	0	2	1	2	3	5	3	4	4	2	1	0	4	2	3	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.470C>A	p.Pro157Gln	p.P157Q	ENST00000370068	3/8	219	204	15	368	367	1	strelka-varscan-mutect	NTNG1,missense_variant,p.Pro157Gln,ENST00000370067,;NTNG1,missense_variant,p.Pro157Gln,ENST00000370068,;NTNG1,missense_variant,p.Pro157Gln,ENST00000370073,NM_001113226.1;NTNG1,missense_variant,p.Pro157Gln,ENST00000370071,NM_001113228.1;NTNG1,missense_variant,p.Pro157Gln,ENST00000370074,NM_014917.2;NTNG1,missense_variant,p.Pro157Gln,ENST00000370065,;NTNG1,missense_variant,p.Pro157Gln,ENST00000370066,;NTNG1,non_coding_transcript_exon_variant,,ENST00000477948,;NTNG1,non_coding_transcript_exon_variant,,ENST00000294649,;	A	ENST00000370068	Transcript	missense_variant	1316/4034	470/1620	157/539	P/Q	cCa/cAa		1		1	NTNG1	HGNC	HGNC:23319	protein_coding	YES	CCDS44180.1	ENSP00000359085	Q9Y2I2		UPI0000458A3E		deleterious(0.01)		3/8		PROSITE_profiles:PS51117,hmmpanther:PTHR10574:SF28,hmmpanther:PTHR10574,Gene3D:2.60.120.260,Pfam_domain:PF00055,SMART_domains:SM00136																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	81	107324505	107324505	C	A	1	0	0	0	0	1	0	0	0	10769	594	21	2		2	NTNG1	1	107324505	Missense_Mutation	SNP	C	C3N-01489_TP	156	107324505	141631917	36	26582											
AKNAD1	0	.	GRCh38	chr1	108849568	108849568	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttggtggatatgtactatGggctccatctgcacaattaa	10	14	9	8	0	2	0	0	0	2	0	3	1	3	1	1	3	2	3	1	3	5	5	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1002C>A	p.=	p.P334P	ENST00000370001	3/16	157	149	8	243	243	0	strelka-varscan-mutect	AKNAD1,synonymous_variant,p.=,ENST00000370001,NM_152763.4;AKNAD1,synonymous_variant,p.=,ENST00000369995,;AKNAD1,synonymous_variant,p.=,ENST00000369994,;RP11-475E11.9,synonymous_variant,p.=,ENST00000357393,;AKNAD1,synonymous_variant,p.=,ENST00000474186,;AKNAD1,synonymous_variant,p.=,ENST00000461774,;AKNAD1,synonymous_variant,p.=,ENST00000472781,;	T	ENST00000370001	Transcript	synonymous_variant	1271/3053	1002/2511	334/836	P	ccC/ccA		1		-1	AKNAD1	HGNC	HGNC:28398	protein_coding	YES	CCDS791.2	ENSP00000359018	Q5T1N1		UPI00004700A0	NM_152763.4			3/16		Pfam_domain:PF12443,hmmpanther:PTHR21510,hmmpanther:PTHR21510:SF16																	LOW	1	SNV	1			1										PASS		rs1475665025	.												T	2	4	81	108849568	108849568	G	T	1	0	0	0	0	0	0	0	1	548	1335	47	2		2	AKNAD1	1	108849568	Silent	SNP	G	C3N-01489_TP	1525063	108849568	140106854	37	26583											
GNAT2	0	.	GRCh38	chr1	109608723	109608723	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctcctaatgacctccacGagctcaggaggcatggttcc	10	8	9	14	1	1	1	1	1	0	0	4	3	4	2	5	3	2	3	5	3	2	2	rs12046787		C3N-01489_TP	C3N-01489_NB	G	G																c.369C>A	p.=	p.L123L	ENST00000351050	4/8	354	310	44	549	549	0	strelka-varscan-mutect	GNAT2,synonymous_variant,p.=,ENST00000351050,NM_005272.3;GNAT2,synonymous_variant,p.=,ENST00000622865,;GNAI3,3_prime_UTR_variant,,ENST00000369851,NM_006496.3;	T	ENST00000351050	Transcript	synonymous_variant	556/1339	369/1065	123/354	L	ctC/ctA	rs12046787	1		-1	GNAT2	HGNC	HGNC:4394	protein_coding	YES	CCDS803.1	ENSP00000251337	P19087	Q5T697	UPI000000124D	NM_005272.3			4/8		Gene3D:1.10.400.10,Pfam_domain:PF00503,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF68,SMART_domains:SM00275,Superfamily_domains:SSF47895																	LOW	1	SNV	1			1										PASS		rs12046787	.												T	2	4	81	109608723	109608723	G	T	1	0	0	0	0	0	0	0	1	6392	1045	37	1		1	GNAT2	1	109608723	Silent	SNP	G	C3N-01489_TP	759155	109608723	139347699	38	26584											
ANKRD35	0	.	GRCh38	chr1	145872785	145872785	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgtagctggacctgcgCctgtggcttgggcacaaact	6	10	13	12	1	0	0	0	0	0	0	0	1	0	1	2	3	4	5	2	3	2	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1984G>T	p.Ala662Ser	p.A662S	ENST00000355594	10/14	154	132	22	215	215	0	strelka-varscan-mutect	ANKRD35,missense_variant,p.Ala662Ser,ENST00000355594,NM_144698.4;ANKRD35,missense_variant,p.Ala572Ser,ENST00000544626,NM_001280799.1;	A	ENST00000355594	Transcript	missense_variant	2071/3342	1984/3006	662/1001	A/S	Gcg/Tcg		1		-1	ANKRD35	HGNC	HGNC:26323	protein_coding	YES	CCDS72867.1	ENSP00000347802	Q8N283		UPI0002747112	NM_144698.4	tolerated(0.14)		10/14		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	81	145872785	145872785	C	A	1	0	0	0	0	1	0	0	0	770	739	26	2		2	ANKRD35	1	145872785	Missense_Mutation	SNP	C	C3N-01489_TP	36264062	145872785	103083637	39	26585											
BCL9	0	.	GRCh38	chr1	147622288	147622288	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggtggccccccacctcctAcagccagccagcctgcctct	6	7	8	20	0	1	0	0	0	1	0	2	0	2	0	9	2	5	0	9	2	2	2	rs587754307		C3N-01489_TP	C3N-01489_NB	A	A																c.2920A>T	p.Thr974Ser	p.T974S	ENST00000234739	9/10	145	123	22	236	236	0	strelka-varscan-mutect	BCL9,missense_variant,p.Thr974Ser,ENST00000234739,NM_004326.3;	T	ENST00000234739	Transcript	missense_variant	3660/6278	2920/4281	974/1426	T/S	Aca/Tca	rs587754307	1		1	BCL9	HGNC	HGNC:1008	protein_coding	YES	CCDS30833.1	ENSP00000234739	O00512	A0A024QYY4	UPI000013C9B9	NM_004326.3	tolerated(1)		9/10		hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5																	MODERATE	1	SNV	1			1										PASS		rs587754307	.												T	3	4	81	147622288	147622288	A	T	1	0	0	0	0	1	0	0	0	1528	391	14	4		4	BCL9	1	147622288	Missense_Mutation	SNP	A	C3N-01489_TP	1749503	147622288	101334134	40	26586											
NBPF11	0	.	GRCh38	chr1	148117644	148117644	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgttcttggaggtcctgccCctgggacttgtccggctcat	3	13	12	13	1	2	0	1	0	1	0	4	2	4	2	4	4	1	2	4	4	0	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1234G>T	p.Gly412Trp	p.G412W	ENST00000615281	12/24	60	50	10	63	63	0	varscan-mutect	NBPF11,missense_variant,p.Gly412Trp,ENST00000615281,NM_183372.5;NBPF11,missense_variant,p.Gly412Trp,ENST00000614015,NM_001101663.4;NBPF11,missense_variant,p.Gly377Trp,ENST00000614785,;NBPF11,missense_variant,p.Gly337Trp,ENST00000613531,;NBPF11,missense_variant,p.Gly337Trp,ENST00000614506,;	A	ENST00000615281	Transcript	missense_variant	2385/5494	1234/2598	412/865	G/W	Ggg/Tgg		1		-1	NBPF11	HGNC	HGNC:31993	protein_coding	YES	CCDS41381.2	ENSP00000477509	Q86T75		UPI0000198783	NM_183372.5	tolerated(0.06)		12/24		hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	148117644	148117644	C	A	1	0	0	0	0	1	0	0	0	10205	623	22	2		2	NBPF11	1	148117644	Missense_Mutation	SNP	C	C3N-01489_TP	495356	148117644	100838778	41	26587											
SV2A	0	.	GRCh38	chr1	149909873	149909873	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcagcaccatccaggcCtcatcatgctttccattcta	8	13	5	15	0	4	0	3	0	1	0	6	0	6	0	4	1	3	3	4	1	1	4	rs782252414		C3N-01489_TP	C3N-01489_NB	C	C																c.1107G>T	p.Glu369Asp	p.E369D	ENST00000369146	6/13	237	210	27	319	318	1	strelka-varscan-mutect	SV2A,missense_variant,p.Glu369Asp,ENST00000369146,NM_014849.4;SV2A,missense_variant,p.Glu369Asp,ENST00000369145,;	A	ENST00000369146	Transcript	missense_variant	1598/4416	1107/2229	369/742	E/D	gaG/gaT	rs782252414	1		-1	SV2A	HGNC	HGNC:20566	protein_coding	YES	CCDS940.1	ENSP00000358142	Q7L0J3		UPI000000DAD2	NM_014849.4	deleterious(0.02)		6/13		Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR23511,hmmpanther:PTHR23511:SF11,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR01299																	MODERATE	1	SNV	1			1										PASS		rs782252414	.												A	3	1	81	149909873	149909873	C	A	1	0	0	0	0	1	0	0	0	15801	680	24	2		2	SV2A	1	149909873	Missense_Mutation	SNP	C	C3N-01489_TP	1792229	149909873	99046549	42	26588											
CIART	0	.	GRCh38	chr1	150283384	150283384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatagtgagagggaggacaaGggggcccatgggcccaggcc	10	3	19	9	0	0	1	0	1	0	1	0	5	0	3	3	6	0	0	3	6	2	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.117G>T	p.Lys39Asn	p.K39N	ENST00000290363	1/5	81	68	13	129	129	0	strelka-varscan-mutect	CIART,missense_variant,p.Lys39Asn,ENST00000290363,NM_144697.3;CIART,missense_variant,p.Lys39Asn,ENST00000369095,NM_001300838.1;CIART,intron_variant,,ENST00000369094,NM_001300840.1,NM_001300839.1,NM_001300841.1;CIART,intron_variant,,ENST00000417398,;CIART,intron_variant,,ENST00000447007,;C1orf54,downstream_gene_variant,,ENST00000369102,NM_001301040.1,NM_001301039.1;C1orf54,downstream_gene_variant,,ENST00000369099,NM_024579.3;C1orf54,downstream_gene_variant,,ENST00000369098,NM_001301042.1;CIART,upstream_gene_variant,,ENST00000497211,;CIART,non_coding_transcript_exon_variant,,ENST00000469255,;	T	ENST00000290363	Transcript	missense_variant	566/1746	117/1158	39/385	K/N	aaG/aaT		1		1	CIART	HGNC	HGNC:25200	protein_coding	YES	CCDS949.1	ENSP00000290363	Q8N365		UPI000000DBBF	NM_144697.3	deleterious_low_confidence(0.04)		1/5		hmmpanther:PTHR35441																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	150283384	150283384	G	T	1	0	0	0	0	1	0	0	0	3181	991	35	2		2	CIART	1	150283384	Missense_Mutation	SNP	G	C3N-01489_TP	373511	150283384	98673038	43	26589											
OAZ3	0	.	GRCh38	chr1	151767261	151767261	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggagggcaaaagcaccGagcagggtaaccacgaccag	14	2	13	12	2	0	0	0	0	0	0	1	3	1	1	4	3	3	4	4	3	3	1	rs755505565		C3N-01489_TP	C3N-01489_NB	G	G																c.169G>T	p.Glu57Ter	p.E57*	ENST00000453029	3/6	214	184	30	197	196	1	strelka-varscan-mutect	OAZ3,stop_gained,p.Glu89Ter,ENST00000479764,;OAZ3,stop_gained,p.Glu89Ter,ENST00000400999,NM_016178.2;OAZ3,stop_gained,p.Glu44Ter,ENST00000321531,NM_001134939.1;OAZ3,stop_gained,p.Glu44Ter,ENST00000627780,;OAZ3,stop_gained,p.Glu44Ter,ENST00000635322,;OAZ3,stop_gained,p.Glu57Ter,ENST00000453029,NM_001301371.1;OAZ3,stop_gained,p.Glu23Ter,ENST00000635374,;OAZ3,stop_gained,p.Glu6Ter,ENST00000582415,;TDRKH,downstream_gene_variant,,ENST00000368827,NM_006862.3;TDRKH,downstream_gene_variant,,ENST00000440583,;MRPL9,upstream_gene_variant,,ENST00000368830,NM_031420.3;MRPL9,upstream_gene_variant,,ENST00000368829,NM_001300733.1;RP11-98D18.3,intron_variant,,ENST00000512280,;RP11-98D18.16,upstream_gene_variant,,ENST00000596133,;RP11-98D18.2,downstream_gene_variant,,ENST00000420382,;OAZ3,non_coding_transcript_exon_variant,,ENST00000577465,;MRPL9,upstream_gene_variant,,ENST00000467306,;MRPL9,upstream_gene_variant,,ENST00000462783,;MRPL9,upstream_gene_variant,,ENST00000478926,;MRPL9,upstream_gene_variant,,ENST00000486707,;MRPL9,upstream_gene_variant,,ENST00000481777,;MRPL9,upstream_gene_variant,,ENST00000492684,;MRPL9,upstream_gene_variant,,ENST00000461182,;OAZ3,non_coding_transcript_exon_variant,,ENST00000635179,;TDRKH,downstream_gene_variant,,ENST00000525790,;	T	ENST00000453029	Transcript	stop_gained	184/729	169/612	57/203	E/*	Gag/Tag	rs755505565,COSM3722844,COSM3722845	1		1	OAZ3	HGNC	HGNC:8097	protein_coding	YES	CCDS76216.1	ENSP00000415904		H0Y7Y4	UPI000268AE32	NM_001301371.1			3/6		hmmpanther:PTHR10279,hmmpanther:PTHR10279:SF9											0,1,1						HIGH		SNV	5		0,1,1	1										PASS		rs755505565	.												T	4	4	81	151767261	151767261	G	T	1	0	0	0	0	0	1	0	0	10885	1059	37	1		1	OAZ3	1	151767261	Nonsense_Mutation	SNP	G	C3N-01489_TP	1483877	151767261	97189161	44	26590											
FLG	0	.	GRCh38	chr1	152303968	152303968	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccgtgcccaatgcctgAgtgtctggagctgtctgctg	4	13	13	11	1	2	1	0	1	2	0	3	2	3	2	3	1	4	2	3	1	1	1	rs200934203		C3N-01489_TP	C3N-01489_NB	A	A																c.10918T>C	p.Ser3640Pro	p.S3640P	ENST00000368799	3/3	387	330	57	507	506	1	strelka-varscan-mutect	FLG,missense_variant,p.Ser3640Pro,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	G	ENST00000368799	Transcript	missense_variant	10954/12747	10918/12186	3640/4061	S/P	Tca/Cca	rs200934203	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	deleterious(0.01)		3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571,Pfam_domain:PF03516																	MODERATE	1	SNV	1			1										PASS		rs200934203	.												G	3	3	81	152303968	152303968	A	G	1	0	0	0	0	1	0	0	0	5784	304	11	5		5	FLG	1	152303968	Missense_Mutation	SNP	A	C3N-01489_TP	536707	152303968	96652454	45	26591											
FLG	0	.	GRCh38	chr1	152307357	152307357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgtctgcttgcacttctgGatcctgagtgcccatgggag	5	14	12	10	0	2	1	0	1	2	0	3	3	3	3	2	2	3	2	2	2	0	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.7529C>A	p.Ser2510Tyr	p.S2510Y	ENST00000368799	3/3	514	410	104	647	647	0	strelka-varscan-mutect	FLG,missense_variant,p.Ser2510Tyr,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368799	Transcript	missense_variant	7565/12747	7529/12186	2510/4061	S/Y	tCc/tAc		1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	deleterious(0)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	152307357	152307357	G	T	1	0	0	0	0	1	0	0	0	5784	1174	41	2		2	FLG	1	152307357	Missense_Mutation	SNP	G	C3N-01489_TP	3389	152307357	96649065	46	26592											
FLG	0	.	GRCh38	chr1	152313535	152313535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggccacgtgtggactcttGgtggctctgctgtctcagcc	3	11	13	14	2	3	0	1	0	3	0	4	1	3	1	3	4	2	2	3	4	0	1	rs748669946		C3N-01489_TP	C3N-01489_NB	G	G																c.1351C>A	p.Gln451Lys	p.Q451K	ENST00000368799	3/3	308	270	38	465	463	2	strelka-varscan-mutect	FLG,missense_variant,p.Gln451Lys,ENST00000368799,NM_002016.1;FLG-AS1,non_coding_transcript_exon_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368799	Transcript	missense_variant	1387/12747	1351/12186	451/4061	Q/K	Caa/Aaa	rs748669946	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	tolerated(0.46)		3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571																	MODERATE	1	SNV	1			1										PASS		rs748669946	.												T	3	4	81	152313535	152313535	G	T	1	0	0	0	0	1	0	0	0	5784	1357	47	2		2	FLG	1	152313535	Missense_Mutation	SNP	G	C3N-01489_TP	6178	152313535	96642887	47	26593											
FLG2	0	.	GRCh38	chr1	152357310	152357310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgtcttcctagcctcctgGagttggacccatgtctacat	6	14	8	13	0	2	0	0	0	2	0	4	2	4	2	4	2	2	1	4	2	2	5	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.476C>A	p.Ser159Tyr	p.S159Y	ENST00000388718	3/3	227	202	25	274	274	0	strelka-varscan-mutect	FLG2,missense_variant,p.Ser159Tyr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,;	T	ENST00000388718	Transcript	missense_variant	549/9124	476/7176	159/2391	S/Y	tCc/tAc		1		-1	FLG2	HGNC	HGNC:33276	protein_coding	YES	CCDS30861.1	ENSP00000373370	Q5D862		UPI00004E1DE5	NM_001014342.2	deleterious(0)		3/3		hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	81	152357310	152357310	G	T	1	0	0	0	0	1	0	0	0	5785	1174	41	2		2	FLG2	1	152357310	Missense_Mutation	SNP	G	C3N-01489_TP	43775	152357310	96599112	48	26594											
CHRNB2	0	.	GRCh38	chr1	154571660	154571660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctggcgctcacggtcttCctgctgctcatctccaagat	5	12	9	15	2	4	1	2	0	2	1	6	1	5	1	2	2	3	4	2	2	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.837C>A	p.Phe279Leu	p.F279L	ENST00000368476	5/6	218	176	42	309	309	0	strelka-varscan-mutect	CHRNB2,missense_variant,p.Phe279Leu,ENST00000368476,NM_000748.2;CHRNB2,missense_variant,p.Phe281Leu,ENST00000637900,;CHRNB2,missense_variant,p.Phe279Leu,ENST00000636034,;CHRNB2,downstream_gene_variant,,ENST00000636695,;	A	ENST00000368476	Transcript	missense_variant	1101/5867	837/1509	279/502	F/L	ttC/ttA		1		1	CHRNB2	HGNC	HGNC:1962	protein_coding	YES	CCDS1070.1	ENSP00000357461	P17787	Q5SXY3	UPI000012526E	NM_000748.2	deleterious(0)		5/6		Gene3D:1.20.120.370,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF80,Low_complexity_(Seg):seg,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	154571660	154571660	C	A	1	0	0	0	0	1	0	0	0	3151	854	30	2		2	CHRNB2	1	154571660	Missense_Mutation	SNP	C	C3N-01489_TP	2214350	154571660	94384762	49	26595											
RHBG	0	.	GRCh38	chr1	156384781	156384781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcctgccttccaggtgcCtggcgagcatgaggataaag	9	8	12	12	1	0	1	0	1	0	0	2	3	2	2	4	3	3	1	4	3	2	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1313C>A	p.Pro438His	p.P438H	ENST00000537040	10/10	94	78	16	125	124	1	strelka-varscan-mutect	RHBG,missense_variant,p.Pro438His,ENST00000537040,NM_001256395.1,NM_020407.4,NM_001256396.1;RP11-139I14.2,upstream_gene_variant,,ENST00000451362,;RHBG,non_coding_transcript_exon_variant,,ENST00000494874,;RHBG,3_prime_UTR_variant,,ENST00000620376,;RHBG,3_prime_UTR_variant,,ENST00000451864,;RHBG,3_prime_UTR_variant,,ENST00000613460,;RHBG,3_prime_UTR_variant,,ENST00000612897,;RHBG,non_coding_transcript_exon_variant,,ENST00000618120,;RHBG,downstream_gene_variant,,ENST00000622297,;	A	ENST00000537040	Transcript	missense_variant	1351/1789	1313/1377	438/458	P/H	cCt/cAt		1		1	RHBG	HGNC	HGNC:14572	protein_coding	YES		ENSP00000441197	Q9H310		UPI000004F267	NM_001256395.1,NM_020407.4,NM_001256396.1	deleterious(0.01)		10/10		Gene3D:1.10.3430.10,hmmpanther:PTHR11730,hmmpanther:PTHR11730:SF42																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	156384781	156384781	C	A	1	0	0	0	0	1	0	0	0	13496	695	24	2		2	RHBG	1	156384781	Missense_Mutation	SNP	C	C3N-01489_TP	1813121	156384781	92571641	50	26596											
INSRR	0	.	GRCh38	chr1	156851425	156851425	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgctgcagctgtggcTccaggttgtctagggatggg	4	11	18	8	0	1	0	0	0	1	0	2	1	2	1	1	5	3	6	1	5	1	2	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.1094A>T	p.Glu365Val	p.E365V	ENST00000368195	5/22	225	188	37	280	280	0	strelka-varscan-mutect	INSRR,missense_variant,p.Glu365Val,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;	A	ENST00000368195	Transcript	missense_variant	1491/5101	1094/3894	365/1297	E/V	gAg/gTg		1		-1	INSRR	HGNC	HGNC:6093	protein_coding	YES	CCDS1160.1	ENSP00000357178	P14616		UPI000012D8BD	NM_014215.2	tolerated(0.4)		5/22		hmmpanther:PTHR24416:SF338,hmmpanther:PTHR24416,Pfam_domain:PF01030,PIRSF_domain:PIRSF000620,Gene3D:3.80.20.20,Superfamily_domains:SSF52058																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	81	156851425	156851425	T	A	1	0	0	0	0	1	0	0	0	7676	1551	54	4		4	INSRR	1	156851425	Missense_Mutation	SNP	T	C3N-01489_TP	466644	156851425	92104997	51	26597											
FCRL5	0	.	GRCh38	chr1	157521052	157521052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcactgtctcactgcgctggGccccgaggccattgtcggcc	4	9	12	16	3	2	0	2	0	1	0	4	1	2	0	4	3	1	1	4	3	0	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2480C>A	p.Ala827Asp	p.A827D	ENST00000361835	11/17	87	75	12	123	123	0	strelka-varscan-mutect	FCRL5,missense_variant,p.Ala827Asp,ENST00000361835,NM_001195388.1,NM_031281.2;FCRL5,downstream_gene_variant,,ENST00000368190,;FCRL5,non_coding_transcript_exon_variant,,ENST00000461387,;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,;FCRL5,upstream_gene_variant,,ENST00000462218,;FCRL5,upstream_gene_variant,,ENST00000483875,;	T	ENST00000361835	Transcript	missense_variant	2638/5390	2480/2934	827/977	A/D	gCc/gAc		1		-1	FCRL5	HGNC	HGNC:18508	protein_coding	YES	CCDS1165.1	ENSP00000354691	Q96RD9		UPI0000458907	NM_001195388.1,NM_031281.2	tolerated(0.06)		11/17		PROSITE_profiles:PS50835,hmmpanther:PTHR11481:SF68,hmmpanther:PTHR11481,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs770580193	.												T	3	4	81	157521052	157521052	G	T	1	0	0	0	0	1	0	0	0	5660	1203	42	2		2	FCRL5	1	157521052	Missense_Mutation	SNP	G	C3N-01489_TP	669627	157521052	91435370	52	26598											
FCRL5	0	.	GRCh38	chr1	157544432	157544432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctgaagaagcggaacCggagcgggacatctgacctc	11	6	12	12	3	2	3	0	2	2	1	4	6	2	6	2	3	3	0	2	3	3	0	rs138632023		C3N-01489_TP	C3N-01489_NB	C	C																c.674G>A	p.Arg225Gln	p.R225Q	ENST00000361835	5/17	365	333	32	532	530	2	strelka-varscan-mutect	FCRL5,missense_variant,p.Arg225Gln,ENST00000361835,NM_001195388.1,NM_031281.2;FCRL5,missense_variant,p.Arg225Gln,ENST00000368189,;FCRL5,missense_variant,p.Arg225Gln,ENST00000368190,;FCRL5,non_coding_transcript_exon_variant,,ENST00000481082,;	T	ENST00000361835	Transcript	missense_variant	832/5390	674/2934	225/977	R/Q	cGg/cAg	rs138632023,COSM400855	1		-1	FCRL5	HGNC	HGNC:18508	protein_coding	YES	CCDS1165.1	ENSP00000354691	Q96RD9		UPI0000458907	NM_001195388.1,NM_031281.2	tolerated(1)		5/17		PROSITE_profiles:PS50835,hmmpanther:PTHR11481:SF68,hmmpanther:PTHR11481,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs138632023	.												T	3	4	81	157544432	157544432	C	T	1	0	0	0	0	1	0	0	0	5660	652	23	1		1	FCRL5	1	157544432	Missense_Mutation	SNP	C	C3N-01489_TP	23380	157544432	91411990	53	26599											
FCRL1	0	.	GRCh38	chr1	157802179	157802179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccctgagcatgaggattgGgcgagacaccgggactgagg	10	5	17	9	2	0	4	0	3	0	1	0	7	0	6	2	4	2	1	2	4	0	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.622C>A	p.Pro208Thr	p.P208T	ENST00000368176	5/11	78	64	14	139	139	0	strelka-varscan-mutect	FCRL1,missense_variant,p.Pro208Thr,ENST00000358292,NM_001159397.1;FCRL1,missense_variant,p.Pro208Thr,ENST00000368176,NM_052938.4;FCRL1,missense_variant,p.Pro208Thr,ENST00000491942,NM_001159398.1;FCRL1,non_coding_transcript_exon_variant,,ENST00000489998,;FCRL1,intron_variant,,ENST00000368175,;FCRL1,upstream_gene_variant,,ENST00000463001,;FCRL1,upstream_gene_variant,,ENST00000495126,;FCRL1,downstream_gene_variant,,ENST00000480310,;	T	ENST00000368176	Transcript	missense_variant	690/2596	622/1290	208/429	P/T	Cca/Aca		1		-1	FCRL1	HGNC	HGNC:18509	protein_coding	YES	CCDS1170.1	ENSP00000357158	Q96LA6		UPI000006E5BD	NM_052938.4	deleterious(0)		5/11		PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	157802179	157802179	G	T	1	0	0	0	0	1	0	0	0	5657	1232	43	2		2	FCRL1	1	157802179	Missense_Mutation	SNP	G	C3N-01489_TP	257747	157802179	91154243	54	26600											
OR10T2	0	.	GRCh38	chr1	158398814	158398814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttaactatgaagccatagGatatgagaattaacagaaaa	19	10	8	4	0	0	3	0	2	0	2	0	5	0	4	1	1	3	1	1	1	9	5			C3N-01489_TP	C3N-01489_NB	G	G																c.653C>A	p.Ser218Tyr	p.S218Y	ENST00000334438	1/1	158	144	14	217	217	0	strelka-varscan-mutect	OR10T2,missense_variant,p.Ser218Tyr,ENST00000334438,NM_001004475.1;	T	ENST00000334438	Transcript	missense_variant	653/945	653/945	218/314	S/Y	tCc/tAc	COSM1668091	1		-1	OR10T2	HGNC	HGNC:14816	protein_coding	YES	CCDS30895.1	ENSP00000334115	Q8NGX3	A0A126GV74	UPI000003F220	NM_001004475.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF98,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		rs1212822908	.												T	3	4	81	158398814	158398814	G	T	1	0	0	0	0	1	0	0	0	10996	1174	41	2		2	OR10T2	1	158398814	Missense_Mutation	SNP	G	C3N-01489_TP	596635	158398814	90557608	55	26601											
SPTA1	0	.	GRCh38	chr1	158636736	158636736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatctctcccatagtcctGggagctcactcgtatcaact	10	11	7	13	1	3	1	2	0	1	1	7	2	5	2	2	1	2	2	2	1	4	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.5215C>A	p.Gln1739Lys	p.Q1739K	ENST00000368147	37/52	376	317	59	513	513	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Gln1739Lys,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000461624,;SPTA1,downstream_gene_variant,,ENST00000465741,;	T	ENST00000368147	Transcript	missense_variant	5396/7999	5215/7260	1739/2419	Q/K	Cag/Aag		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	tolerated(0.08)		37/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	158636736	158636736	G	T	1	0	0	0	0	1	0	0	0	15472	1357	47	2		2	SPTA1	1	158636736	Missense_Mutation	SNP	G	C3N-01489_TP	237922	158636736	90319686	56	26602											
IFI16	0	.	GRCh38	chr1	159032672	159032672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgccaccaacaactccatCcagcagtttcttcaccaagg	12	8	6	15	0	2	0	1	0	1	0	4	1	4	0	5	1	4	2	5	1	3	2			C3N-01489_TP	C3N-01489_NB	C	C																c.1310C>A	p.Ser437Tyr	p.S437Y	ENST00000368131	7/11	65	58	7	129	129	0	strelka-varscan-mutect	IFI16,missense_variant,p.Ser437Tyr,ENST00000295809,;IFI16,missense_variant,p.Ser437Tyr,ENST00000368131,NM_005531.2;IFI16,missense_variant,p.Ser437Tyr,ENST00000368132,;IFI16,missense_variant,p.Ser381Tyr,ENST00000359709,NM_001206567.1;IFI16,missense_variant,p.Ser437Tyr,ENST00000448393,;IFI16,5_prime_UTR_variant,,ENST00000340979,;IFI16,non_coding_transcript_exon_variant,,ENST00000483916,;IFI16,non_coding_transcript_exon_variant,,ENST00000493884,;IFI16,non_coding_transcript_exon_variant,,ENST00000562225,;	A	ENST00000368131	Transcript	missense_variant	1600/2734	1310/2190	437/729	S/Y	tCc/tAc	COSM4463919,COSM4463920	1		1	IFI16	HGNC	HGNC:5395	protein_coding	YES	CCDS1180.3	ENSP00000357113	Q16666		UPI00001412C9	NM_005531.2	deleterious(0.03)		7/11		Low_complexity_(Seg):seg											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	81	159032672	159032672	C	A	1	0	0	0	0	1	0	0	0	7412	855	30	2		2	IFI16	1	159032672	Missense_Mutation	SNP	C	C3N-01489_TP	395936	159032672	89923750	57	26603											
FCER1A	0	.	GRCh38	chr1	159302379	159302379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagatggctcctgccatGgaatcccctactctactgtg	10	10	9	12	0	1	2	0	0	1	2	3	3	3	3	4	2	3	1	4	2	5	2	rs142102904		C3N-01489_TP	C3N-01489_NB	G	G																c.15G>T	p.Met5Ile	p.M5I	ENST00000368115	2/6	197	173	24	270	269	1	strelka-varscan-mutect	FCER1A,missense_variant,p.Met5Ile,ENST00000368115,NM_002001.3;FCER1A,missense_variant,p.Met5Ile,ENST00000368114,;	T	ENST00000368115	Transcript	missense_variant	114/1165	15/774	5/257	M/I	atG/atT	rs142102904,COSM109802	1		1	FCER1A	HGNC	HGNC:3609	protein_coding	YES	CCDS1184.1	ENSP00000357097	P12319		UPI000002CFDB	NM_002001.3	tolerated(0.07)		2/6		hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF12,Cleavage_site_(Signalp):SignalP-noTM											1,1						MODERATE	1	SNV	1		0,1	1										PASS		rs142102904	.												T	3	4	81	159302379	159302379	G	T	1	0	0	0	0	1	0	0	0	5637	1348	47	2		2	FCER1A	1	159302379	Missense_Mutation	SNP	G	C3N-01489_TP	269707	159302379	89654043	58	26604											
CRP	0	.	GRCh38	chr1	159713650	159713650	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttaatctcatctggtgacaGcacaaagtcccacatgttca	12	11	7	11	0	3	1	2	1	2	0	5	1	4	1	1	1	1	3	1	1	2	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.550C>T	p.=	p.L184L	ENST00000255030	2/2	253	230	23	359	358	1	strelka-varscan-mutect	CRP,synonymous_variant,p.=,ENST00000255030,NM_000567.2;CRP,synonymous_variant,p.=,ENST00000437342,;CRP,intron_variant,,ENST00000368112,;CRP,intron_variant,,ENST00000368110,;CRP,intron_variant,,ENST00000368111,;CRP,non_coding_transcript_exon_variant,,ENST00000473196,;CRP,intron_variant,,ENST00000489317,;	A	ENST00000255030	Transcript	synonymous_variant	654/2015	550/675	184/224	L	Ctg/Ttg		1		-1	CRP	HGNC	HGNC:2367	protein_coding	YES	CCDS30911.1	ENSP00000255030	P02741		UPI0000128478	NM_000567.2			2/2		hmmpanther:PTHR19277:SF119,hmmpanther:PTHR19277,Pfam_domain:PF00354,Gene3D:2.60.120.200,SMART_domains:SM00159,Superfamily_domains:SSF49899,Prints_domain:PR00895																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	159713650	159713650	G	A	1	0	0	0	0	0	0	0	1	3697	962	34	3		3	CRP	1	159713650	Silent	SNP	G	C3N-01489_TP	411271	159713650	89242772	59	26605											
IGSF8	0	.	GRCh38	chr1	160092467	160092467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctctacgctgacagggcctCctccaggccggactcccagc	6	6	11	18	2	1	1	0	1	1	0	4	2	4	2	5	3	2	2	5	3	1	1			C3N-01489_TP	C3N-01489_NB	C	C																c.1541G>A	p.Gly514Glu	p.G514E	ENST00000368086	5/7	118	101	17	167	167	0	strelka-varscan-mutect	IGSF8,missense_variant,p.Gly514Glu,ENST00000368086,NM_001320247.1;IGSF8,missense_variant,p.Gly514Glu,ENST00000314485,NM_052868.4;IGSF8,missense_variant,p.Gly514Glu,ENST00000614243,NM_001206665.2;KCNJ9,downstream_gene_variant,,ENST00000368088,NM_004983.2;IGSF8,downstream_gene_variant,,ENST00000448417,;IGSF8,downstream_gene_variant,,ENST00000460351,;	T	ENST00000368086	Transcript	missense_variant	1758/2366	1541/1842	514/613	G/E	gGa/gAa	COSM4852267	1		-1	IGSF8	HGNC	HGNC:17813	protein_coding	YES	CCDS1195.1	ENSP00000357065	Q969P0		UPI0000073CBA	NM_001320247.1	deleterious(0.01)		5/7		hmmpanther:PTHR12207:SF22,hmmpanther:PTHR12207,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	81	160092467	160092467	C	T	1	0	0	0	0	1	0	0	0	7512	855	30	3		3	IGSF8	1	160092467	Missense_Mutation	SNP	C	C3N-01489_TP	378817	160092467	88863955	60	26606											
ATP1A4	0	.	GRCh38	chr1	160186301	160186301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggtggctctgtgccattCcctacagtattctcatcttc	5	15	7	14	0	3	0	1	0	3	0	6	0	4	0	3	2	2	2	3	2	2	5	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2995C>A	p.Pro999Thr	p.P999T	ENST00000368081	21/22	270	239	31	341	341	0	strelka-varscan-mutect	ATP1A4,missense_variant,p.Pro999Thr,ENST00000368081,NM_144699.3;ATP1A4,missense_variant,p.Pro135Thr,ENST00000470705,NM_001001734.1;CASQ1,upstream_gene_variant,,ENST00000368078,NM_001231.4;ATP1A4,downstream_gene_variant,,ENST00000418334,;ATP1A4,downstream_gene_variant,,ENST00000466526,;ATP1A4,3_prime_UTR_variant,,ENST00000477338,;ATP1A4,non_coding_transcript_exon_variant,,ENST00000469023,;	A	ENST00000368081	Transcript	missense_variant	3466/3839	2995/3090	999/1029	P/T	Ccc/Acc		1		1	ATP1A4	HGNC	HGNC:14073	protein_coding	YES	CCDS1197.1	ENSP00000357060	Q13733		UPI0000124FC5	NM_144699.3	deleterious(0)		21/22		Superfamily_domains:0049473,Gene3D:1.20.1110.10,Pfam_domain:PF00689,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF309,TIGRFAM_domain:TIGR01106,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	160186301	160186301	C	A	1	0	0	0	0	1	0	0	0	1283	855	30	2		2	ATP1A4	1	160186301	Missense_Mutation	SNP	C	C3N-01489_TP	93834	160186301	88770121	61	26607											
DDR2	0	.	GRCh38	chr1	162766023	162766023	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaatgtacaacaactcTgaagccctgcccacctctcc	10	8	6	17	0	2	1	0	1	2	0	3	1	2	1	4	0	6	3	4	0	5	1	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.1122T>A	p.=	p.S374S	ENST00000367922	11/19	433	381	52	596	596	0	strelka-varscan-mutect	DDR2,synonymous_variant,p.=,ENST00000367922,NM_001014796.1;DDR2,synonymous_variant,p.=,ENST00000367921,NM_006182.2;DDR2,upstream_gene_variant,,ENST00000433757,;DDR2,upstream_gene_variant,,ENST00000458105,;	A	ENST00000367922	Transcript	synonymous_variant	1560/10160	1122/2568	374/855	S	tcT/tcA		1		1	DDR2	HGNC	HGNC:2731	protein_coding	YES	CCDS1241.1	ENSP00000356899	Q16832	A0A024R906	UPI000013E1B4	NM_001014796.1			11/19		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF295																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	162766023	162766023	T	A	1	0	0	0	0	0	0	0	1	4141	1567	55	4		4	DDR2	1	162766023	Silent	SNP	T	C3N-01489_TP	2579722	162766023	86190399	62	26608											
RGS4	0	.	GRCh38	chr1	163069456	163069456	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgccgcatttctttccTgcttgcgaattccaagctgt	5	15	7	14	2	1	0	0	0	1	0	4	1	4	0	4	0	4	3	4	0	2	4	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.263T>C	p.Leu88Pro	p.L88P	ENST00000421743	2/6	294	272	22	352	351	1	strelka-varscan-mutect	RGS4,missense_variant,p.Leu88Pro,ENST00000421743,NM_001102445.2;RGS4,5_prime_UTR_variant,,ENST00000367909,NM_005613.5;RGS4,5_prime_UTR_variant,,ENST00000367908,NM_001113381.1;RGS4,5_prime_UTR_variant,,ENST00000531057,;RGS4,intron_variant,,ENST00000527809,;RGS4,upstream_gene_variant,,ENST00000367906,NM_001113380.1;RGS4,upstream_gene_variant,,ENST00000528938,;RGS4,non_coding_transcript_exon_variant,,ENST00000491263,;RGS4,non_coding_transcript_exon_variant,,ENST00000527393,;RGS4,upstream_gene_variant,,ENST00000533019,;	C	ENST00000421743	Transcript	missense_variant	423/3311	263/909	88/302	L/P	cTg/cCg		1		1	RGS4	HGNC	HGNC:10000	protein_coding	YES	CCDS44270.1	ENSP00000397181	P49798		UPI0000E1EDBA	NM_001102445.2	deleterious_low_confidence(0.01)		2/6																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	163069456	163069456	T	C	1	0	0	0	0	1	0	0	0	13478	1580	55	5		5	RGS4	1	163069456	Missense_Mutation	SNP	T	C3N-01489_TP	303433	163069456	85886966	63	26609											
SFT2D2	0	.	GRCh38	chr1	168242501	168242501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtgtcttttctttcctagGgatgctgtgaagaagtgttt	6	19	11	5	0	2	2	0	1	2	1	3	3	3	3	1	1	1	2	1	1	3	6	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.444G>T	p.Arg148Ser	p.R148S	ENST00000271375	8/8	247	216	31	389	388	1	strelka-varscan-mutect	SFT2D2,missense_variant,p.Arg148Ser,ENST00000271375,NM_199344.2;SFT2D2,splice_region_variant,,ENST00000630869,;SFT2D2,downstream_gene_variant,,ENST00000367829,;ANKRD36BP1,downstream_gene_variant,,ENST00000358576,;ANKRD36BP1,downstream_gene_variant,,ENST00000604892,;	T	ENST00000271375	Transcript	missense_variant,splice_region_variant	516/11040	444/483	148/160	R/S	agG/agT		1		1	SFT2D2	HGNC	HGNC:25140	protein_coding	YES	CCDS1271.1	ENSP00000271375	O95562		UPI0000072549	NM_199344.2	deleterious(0)		8/8		hmmpanther:PTHR23137,hmmpanther:PTHR23137:SF1,Pfam_domain:PF04178																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	168242501	168242501	G	T	1	0	0	0	0	1	0	0	0	14446	1246	43	2		2	SFT2D2	1	168242501	Missense_Mutation	SNP	G	C3N-01489_TP	5173045	168242501	80713921	64	26610											
TNR	0	.	GRCh38	chr1	175365215	175365215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctgggggagatggatcactCcaagtgatgttcacactgga	10	9	14	8	0	2	2	2	1	0	1	3	5	3	4	1	4	0	2	1	4	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2382G>C	p.Trp794Cys	p.W794C	ENST00000367674	12/23	94	85	9	143	143	0	strelka-varscan-mutect	TNR,missense_variant,p.Trp794Cys,ENST00000367674,;TNR,missense_variant,p.Trp794Cys,ENST00000263525,NM_003285.2;	G	ENST00000367674	Transcript	missense_variant	3091/12949	2382/4077	794/1358	W/C	tgG/tgC		1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C		deleterious(0)		12/23		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	81	175365215	175365215	C	G	1	0	0	0	0	1	0	0	0	16811	856	30	4		4	TNR	1	175365215	Missense_Mutation	SNP	C	C3N-01489_TP	7122714	175365215	73591207	65	26611											
TNR	0	.	GRCh38	chr1	175396775	175396775	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaatggacctgtcgctgaTaccagccactcgcaagtcct	9	9	8	15	2	1	1	1	1	0	0	4	2	2	2	4	1	2	2	4	1	3	1	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.1009A>G	p.Ile337Val	p.I337V	ENST00000367674	5/23	117	107	10	160	160	0	strelka-varscan-mutect	TNR,missense_variant,p.Ile337Val,ENST00000367674,;TNR,missense_variant,p.Ile337Val,ENST00000263525,NM_003285.2;TNR,missense_variant,p.Ile62Val,ENST00000422274,;	C	ENST00000367674	Transcript	missense_variant	1718/12949	1009/4077	337/1358	I/V	Atc/Gtc		1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C		tolerated(1)		5/23		Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF254,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	81	175396775	175396775	T	C	1	0	0	0	0	1	0	0	0	16811	1406	49	5		5	TNR	1	175396775	Missense_Mutation	SNP	T	C3N-01489_TP	31560	175396775	73559647	66	26612											
ASTN1	0	.	GRCh38	chr1	177164486	177164486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaccgagaagaggagcttgGgctccgaggccgaggggctg	8	4	19	10	3	0	2	0	0	0	2	1	6	1	3	3	5	1	4	3	5	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.191C>A	p.Pro64His	p.P64H	ENST00000361833	1/23	143	126	17	212	212	0	strelka-varscan-mutect	ASTN1,missense_variant,p.Pro64His,ENST00000361833,NM_004319.2;ASTN1,missense_variant,p.Pro64His,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Pro64His,ENST00000424564,NM_207108.2;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;	T	ENST00000361833	Transcript	missense_variant	205/7116	191/3885	64/1294	P/H	cCc/cAc		1		-1	ASTN1	HGNC	HGNC:773	protein_coding	YES	CCDS1319.1	ENSP00000354536	O14525		UPI0000160388	NM_004319.2	deleterious_low_confidence(0)		1/23		hmmpanther:PTHR16592:SF8,hmmpanther:PTHR16592																	MODERATE	1	SNV	1			1										PASS		rs1259045452	.												T	3	4	81	177164486	177164486	G	T	1	0	0	0	0	1	0	0	0	1211	1232	43	2		2	ASTN1	1	177164486	Missense_Mutation	SNP	G	C3N-01489_TP	1767711	177164486	71791936	67	26613											
CACNA1E	0	.	GRCh38	chr1	181718123	181718123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaagatgtatggcatggggCctcgcctttattttcactct	7	15	10	9	1	2	2	1	1	1	1	3	2	2	2	2	3	0	2	2	3	3	5	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1594C>T	p.Pro532Ser	p.P532S	ENST00000367573	12/48	164	150	14	242	242	0	strelka-varscan-mutect	CACNA1E,missense_variant,p.Pro532Ser,ENST00000621791,NM_001205294.1;CACNA1E,missense_variant,p.Pro532Ser,ENST00000621551,;CACNA1E,missense_variant,p.Pro532Ser,ENST00000367567,;CACNA1E,missense_variant,p.Pro532Ser,ENST00000358338,;CACNA1E,missense_variant,p.Pro532Ser,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Pro532Ser,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Pro532Ser,ENST00000357570,;CACNA1E,missense_variant,p.Pro532Ser,ENST00000360108,;CACNA1E,downstream_gene_variant,,ENST00000524607,;	T	ENST00000367573	Transcript	missense_variant	1594/7067	1594/6942	532/2313	P/S	Cct/Tct		1		1	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	CCDS55664.1	ENSP00000356545	Q15878		UPI00004588C2	NM_001205293.1	deleterious(0.03)		12/48		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	181718123	181718123	C	T	1	0	0	0	0	1	0	0	0	2230	739	26	3		3	CACNA1E	1	181718123	Missense_Mutation	SNP	C	C3N-01489_TP	4553637	181718123	67238299	68	26614											
DHX9	0	.	GRCh38	chr1	182843342	182843342	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatgggaaattccaccaatAaaaaagatgcacaaagcaat	20	6	7	8	0	0	1	0	0	0	1	1	2	1	2	2	1	2	3	2	1	7	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.160A>G	p.Lys54Glu	p.K54E	ENST00000367549	3/28	141	124	17	192	192	0	strelka-mutect	DHX9,missense_variant,p.Lys54Glu,ENST00000367549,NM_001357.4;DHX9,non_coding_transcript_exon_variant,,ENST00000483416,;	G	ENST00000367549	Transcript	missense_variant	270/4240	160/3813	54/1270	K/E	Aaa/Gaa		1		1	DHX9	HGNC	HGNC:2750	protein_coding	YES	CCDS41444.1	ENSP00000356520	Q08211		UPI00001AEF15	NM_001357.4	deleterious(0)		3/28		Gene3D:3.30.160.20,Pfam_domain:PF00035,PROSITE_profiles:PS50137,SMART_domains:SM00358,Superfamily_domains:SSF54768																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	182843342	182843342	A	G	1	0	0	0	0	1	0	0	0	4320	363	13	5		5	DHX9	1	182843342	Missense_Mutation	SNP	A	C3N-01489_TP	1125219	182843342	66113080	69	26615											
HMCN1	0	.	GRCh38	chr1	186093203	186093203	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacggggaaatacacatgTgttgctactaatcccgctgg	11	9	11	10	2	0	0	0	0	0	0	1	2	1	1	1	3	3	3	1	3	4	4	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.9957T>A	p.Cys3319Ter	p.C3319*	ENST00000271588	65/107	369	311	58	487	487	0	strelka-varscan-mutect	HMCN1,stop_gained,p.Cys3319Ter,ENST00000271588,NM_031935.2;	A	ENST00000271588	Transcript	stop_gained	10186/18208	9957/16908	3319/5635	C/*	tgT/tgA		1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2			65/107		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF678,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	81	186093203	186093203	T	A	1	0	0	0	0	0	1	0	0	7111	1702	59	4		4	HMCN1	1	186093203	Nonsense_Mutation	SNP	T	C3N-01489_TP	3249861	186093203	62863219	70	26616											
RGS21	0	.	GRCh38	chr1	192365936	192365936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagattaacattgacttcGgtaccagagacctcatctca	13	10	6	12	1	2	3	2	1	1	2	4	4	2	3	2	1	2	1	2	1	2	4	rs370485345		C3N-01489_TP	C3N-01489_NB	G	G																c.271G>T	p.Gly91Cys	p.G91C	ENST00000417209	5/5	199	175	24	281	280	1	strelka-varscan-mutect	RGS21,missense_variant,p.Gly91Cys,ENST00000417209,NM_001039152.3;	T	ENST00000417209	Transcript	missense_variant	445/1794	271/459	91/152	G/C	Ggt/Tgt	rs370485345,COSM531447	1		1	RGS21	HGNC	HGNC:26839	protein_coding	YES	CCDS41448.1	ENSP00000428343	Q2M5E4		UPI0000682FB1	NM_001039152.3	tolerated(0.26)		5/5		Gene3D:1.10.167.10,Pfam_domain:PF00615,Prints_domain:PR01301,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF160,SMART_domains:SM00315,Superfamily_domains:SSF48097											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs370485345	.												T	3	4	81	192365936	192365936	G	T	1	0	0	0	0	1	0	0	0	13475	1116	39	1		1	RGS21	1	192365936	Missense_Mutation	SNP	G	C3N-01489_TP	6272733	192365936	56590486	71	26617											
GPR25	0	.	GRCh38	chr1	200873531	200873531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgtgctgcggcgtctgggCcgtggcgctgctggccggcc	0	8	18	15	6	1	0	0	0	1	0	2	0	1	0	3	5	3	3	3	5	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.494C>T	p.Ala165Val	p.A165V	ENST00000304244	1/1	103	95	8	101	101	0	strelka-varscan	GPR25,missense_variant,p.Ala165Val,ENST00000304244,NM_005298.3;	T	ENST00000304244	Transcript	missense_variant	577/1224	494/1086	165/361	A/V	gCc/gTc		1		1	GPR25	HGNC	HGNC:4480	protein_coding	YES	CCDS1405.1	ENSP00000301917	O00155		UPI000013E957	NM_005298.3	tolerated(0.67)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF9,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	81	200873531	200873531	C	T	1	0	0	0	0	1	0	0	0	6567	739	26	3		3	GPR25	1	200873531	Missense_Mutation	SNP	C	C3N-01489_TP	8507595	200873531	48082891	72	26618											
PPFIA4	0	.	GRCh38	chr1	203061030	203061030	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctggaaacatctactaaaAcagtgagtctggcccttggc	11	10	9	11	0	3	1	0	1	3	0	3	2	3	2	1	3	3	0	1	3	4	3	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.2779A>T	p.Thr927Ser	p.T927S	ENST00000447715	28/35	224	198	26	285	285	0	strelka-varscan	PPFIA4,missense_variant,p.Thr928Ser,ENST00000367240,NM_001304331.1,NM_001304332.1;PPFIA4,missense_variant,p.Thr443Ser,ENST00000295706,;PPFIA4,missense_variant,p.Thr927Ser,ENST00000447715,;PPFIA4,missense_variant,p.Thr443Ser,ENST00000272198,;PPFIA4,missense_variant,p.Thr443Ser,ENST00000599966,;PPFIA4,missense_variant,p.Thr695Ser,ENST00000600426,;PPFIA4,downstream_gene_variant,,ENST00000599514,;PPFIA4,upstream_gene_variant,,ENST00000486360,;PPFIA4,upstream_gene_variant,,ENST00000594656,;	T	ENST00000447715	Transcript	missense_variant,splice_region_variant	3220/6349	2779/3558	927/1185	T/S	Aca/Tca		1		1	PPFIA4	HGNC	HGNC:9248	protein_coding	YES		ENSP00000402576	O75335		UPI0001661778		tolerated(0.17)		28/35																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	203061030	203061030	A	T	1	0	0	0	0	1	0	0	0	12421	57	2	4		4	PPFIA4	1	203061030	Missense_Mutation	SNP	A	C3N-01489_TP	2187499	203061030	45895392	73	26619											
RBBP5	0	.	GRCh38	chr1	205099943	205099943	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagttctcctctcgtccCatggagaatcttcaccaggt	8	11	10	12	1	4	1	1	0	3	1	7	4	5	2	3	3	0	1	3	3	1	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.874G>T	p.Gly292Trp	p.G292W	ENST00000264515	8/14	140	122	18	162	162	0	strelka-varscan	RBBP5,missense_variant,p.Gly292Trp,ENST00000264515,NM_001193273.1,NM_005057.3;RBBP5,missense_variant,p.Gly292Trp,ENST00000367164,NM_001193272.1;	A	ENST00000264515	Transcript	missense_variant	1016/4404	874/1617	292/538	G/W	Ggg/Tgg		1		-1	RBBP5	HGNC	HGNC:9888	protein_coding	YES	CCDS30983.1	ENSP00000264515	Q15291	A0A024R9B5	UPI00001A9CA5	NM_001193273.1,NM_005057.3	deleterious(0)		8/14		Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF433,SMART_domains:SM00320,Superfamily_domains:SSF117289																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	205099943	205099943	C	A	1	0	0	0	0	1	0	0	0	13263	594	21	2		2	RBBP5	1	205099943	Missense_Mutation	SNP	C	C3N-01489_TP	2038913	205099943	43856479	74	26620											
SLC41A1	0	.	GRCh38	chr1	205810280	205810280	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaacccccttggcgttggcCcgagactcaatcaccacctc	8	7	8	18	3	2	1	2	0	0	1	3	3	2	1	5	2	1	1	5	2	2	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.162G>T	p.=	p.R54R	ENST00000367137	2/11	267	234	33	333	332	1	strelka-varscan-mutect	SLC41A1,synonymous_variant,p.=,ENST00000367137,NM_173854.5;SLC41A1,downstream_gene_variant,,ENST00000484000,;	A	ENST00000367137	Transcript	synonymous_variant	1177/4997	162/1542	54/513	R	cgG/cgT		1		-1	SLC41A1	HGNC	HGNC:19429	protein_coding	YES	CCDS30988.1	ENSP00000356105	Q8IVJ1	B2RMP2	UPI000013E1E6	NM_173854.5			2/11		hmmpanther:PTHR16228,hmmpanther:PTHR16228:SF23																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	205810280	205810280	C	A	1	0	0	0	0	0	0	0	1	14907	610	22	2		2	SLC41A1	1	205810280	Silent	SNP	C	C3N-01489_TP	710337	205810280	43146142	75	26621											
PIGR	0	.	GRCh38	chr1	206932531	206932531	+	Missense_Mutation	SNP	C	C	A																															cagcaccaggcccaggggcaCcagggtggagaccagcgctc																								novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1933G>T	p.Val645Leu	p.V645L	ENST00000356495	8/11	149	131	18	160	160	0	strelka-varscan-mutect	PIGR,missense_variant,p.Val645Leu,ENST00000356495,NM_002644.3;PIGR,upstream_gene_variant,,ENST00000487208,;	A	ENST00000356495	Transcript	missense_variant	2117/4279	1933/2295	645/764	V/L	Gtg/Ttg		1		-1	PIGR	HGNC	HGNC:8968	protein_coding	YES	CCDS1474.1	ENSP00000348888	P01833		UPI000007407E	NM_002644.3	tolerated(0.07)		8/11		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11860:SF55,hmmpanther:PTHR11860																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	206932531	206932531	C	A	1	0	0	0	0	1	0	0	0	11991	507	18	2		2	PIGR	1	206932531	Missense_Mutation	SNP	C	C3N-01489_TP	1122251	206932531	42023891	76	26622	567	2									
PIGR	0	.	GRCh38	chr1	206932532	206932532	+	Silent	SNP	C	C	A																															agcaccaggcccaggggcacCagggtggagaccagcgctct																								novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1932G>T	p.=	p.L644L	ENST00000356495	8/11	147	128	19	166	166	0	strelka-varscan-mutect	PIGR,synonymous_variant,p.=,ENST00000356495,NM_002644.3;PIGR,upstream_gene_variant,,ENST00000487208,;	A	ENST00000356495	Transcript	synonymous_variant	2116/4279	1932/2295	644/764	L	ctG/ctT		1		-1	PIGR	HGNC	HGNC:8968	protein_coding	YES	CCDS1474.1	ENSP00000348888	P01833		UPI000007407E	NM_002644.3			8/11		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11860:SF55,hmmpanther:PTHR11860																	LOW	1	SNV	1			1										PASS		rs1249268847	.												A	2	1	81	206932532	206932532	C	A	1	0	0	0	0	0	0	0	1	11991	581	21	2		2	PIGR	1	206932532	Silent	SNP	C	C3N-01489_TP	1	206932532	42023890	77	26623	567	2									
CR1	0	.	GRCh38	chr1	207580349	207580349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgagcctggctatgacctCagaggggctgcgtctctgca	6	10	14	11	1	2	3	1	2	1	1	3	3	2	3	2	3	3	3	2	3	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.5046C>T	p.=	p.L1682L	ENST00000367049	30/47	194	163	31	257	257	0	strelka-varscan-mutect	CR1,synonymous_variant,p.=,ENST00000367049,NM_000651.4;CR1,synonymous_variant,p.=,ENST00000367051,;CR1,synonymous_variant,p.=,ENST00000367052,;CR1,synonymous_variant,p.=,ENST00000367053,;CR1,synonymous_variant,p.=,ENST00000400960,NM_000573.3;CR1,intron_variant,,ENST00000529814,;RP11-78B10.2,intron_variant,,ENST00000623503,;RP11-78B10.2,intron_variant,,ENST00000597497,;RP11-78B10.2,intron_variant,,ENST00000596003,;CR1,3_prime_UTR_variant,,ENST00000534202,;	T	ENST00000367049	Transcript	synonymous_variant	5046/7470	5046/7470	1682/2489	L	ctC/ctT		1		1	CR1	HGNC	HGNC:2334	protein_coding	YES	CCDS44308.1	ENSP00000356016		E9PDY4	UPI000040E8CF	NM_000651.4			30/47		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF354,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	81	207580349	207580349	C	T	1	0	0	0	0	0	0	0	1	3638	813	29	3		3	CR1	1	207580349	Silent	SNP	C	C3N-01489_TP	647817	207580349	41376073	78	26624											
KCNH1	0	.	GRCh38	chr1	211082825	211082825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattctcgcctttttgcacGcttggagccagctgctgcag	6	12	10	13	2	1	0	0	0	1	0	2	1	1	1	2	1	5	5	2	1	0	4	rs771777021		C3N-01489_TP	C3N-01489_NB	G	G																c.513C>A	p.Ser171Arg	p.S171R	ENST00000271751	5/11	144	128	16	213	213	0	strelka-varscan-mutect	KCNH1,missense_variant,p.Ser171Arg,ENST00000271751,NM_172362.2;KCNH1,missense_variant,p.Ser171Arg,ENST00000367007,NM_002238.3;	T	ENST00000271751	Transcript	missense_variant	541/7964	513/2970	171/989	S/R	agC/agA	rs771777021	1		-1	KCNH1	HGNC	HGNC:6250	protein_coding	YES	CCDS1496.1	ENSP00000271751	O95259		UPI000003230D	NM_172362.2	tolerated(0.48)		5/11		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF533																	MODERATE	1	SNV	2			1										PASS		rs771777021	.												T	3	4	81	211082825	211082825	G	T	1	0	0	0	0	1	0	0	0	7947	1078	38	1		1	KCNH1	1	211082825	Missense_Mutation	SNP	G	C3N-01489_TP	3502476	211082825	37873597	79	26625											
TATDN3	0	.	GRCh38	chr1	212795126	212795126	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgttggagaaagccaagaAggtaagtcaatatttgtaat	15	12	11	3	0	1	2	1	0	0	2	1	3	1	2	1	2	1	3	1	2	7	5	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.98A>T	p.Lys33Met	p.K33M	ENST00000532324	2/10	154	128	26	250	249	1	strelka-varscan-mutect	TATDN3,missense_variant,p.Lys33Met,ENST00000366974,NM_001042552.2;TATDN3,missense_variant,p.Lys33Met,ENST00000366973,NM_001042553.2;TATDN3,missense_variant,p.Lys33Met,ENST00000532324,NM_001146171.1;TATDN3,missense_variant,p.Lys33Met,ENST00000531963,NM_001146169.1;TATDN3,missense_variant,p.Lys33Met,ENST00000526641,NM_001146170.1;TATDN3,missense_variant,p.Lys33Met,ENST00000526997,;TATDN3,missense_variant,p.Lys32Met,ENST00000530399,;TATDN3,missense_variant,p.Lys33Met,ENST00000488246,;TATDN3,missense_variant,p.Lys33Met,ENST00000530441,;NSL1,upstream_gene_variant,,ENST00000366977,NM_015471.3;NSL1,upstream_gene_variant,,ENST00000366978,NM_001297739.1;NSL1,upstream_gene_variant,,ENST00000626725,NM_001042549.1;NSL1,upstream_gene_variant,,ENST00000366976,NM_001297737.1;TATDN3,upstream_gene_variant,,ENST00000606486,;TATDN3,splice_region_variant,,ENST00000525569,;TATDN3,splice_region_variant,,ENST00000530392,;TATDN3,splice_region_variant,,ENST00000497768,;NSL1,upstream_gene_variant,,ENST00000473995,;NSL1,upstream_gene_variant,,ENST00000487995,;TATDN3,missense_variant,p.Lys32Met,ENST00000525574,;TATDN3,missense_variant,p.Lys33Met,ENST00000533650,;TATDN3,splice_region_variant,,ENST00000532433,;	T	ENST00000532324	Transcript	missense_variant,splice_region_variant	192/1381	98/846	33/281	K/M	aAg/aTg		1		1	TATDN3	HGNC	HGNC:27010	protein_coding	YES	CCDS53475.1	ENSP00000431376	Q17R31		UPI0000205E43	NM_001146171.1	deleterious(0.01)		2/10		Low_complexity_(Seg):seg,hmmpanther:PTHR10060,hmmpanther:PTHR10060:SF25,Gene3D:3.20.20.140,Pfam_domain:PF01026,PIRSF_domain:PIRSF005902,Superfamily_domains:SSF51556																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	81	212795126	212795126	A	T	1	0	0	0	0	1	0	0	0	15992	86	3	4		4	TATDN3	1	212795126	Missense_Mutation	SNP	A	C3N-01489_TP	1712301	212795126	36161296	80	26626											
USH2A	0	.	GRCh38	chr1	215993077	215993077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcaggtgaatatgagtGggctttgggggctggcacgc	7	9	19	6	1	1	2	1	2	0	0	1	3	1	3	0	6	0	3	0	6	2	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.6748C>T	p.His2250Tyr	p.H2250Y	ENST00000307340	35/72	290	254	36	414	414	0	strelka-varscan-mutect	USH2A,missense_variant,p.His2250Tyr,ENST00000307340,NM_206933.2;	A	ENST00000307340	Transcript	missense_variant	7135/18883	6748/15609	2250/5202	H/Y	Cac/Tac		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(0.83)		35/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	215993077	215993077	G	A	1	0	0	0	0	1	0	0	0	17570	1348	47	3		3	USH2A	1	215993077	Missense_Mutation	SNP	G	C3N-01489_TP	3197951	215993077	32963345	81	26627											
USH2A	0	.	GRCh38	chr1	216323672	216323672	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggatgctaaatgtgacaTtgccacgggaatatggagta	13	10	12	6	1	1	1	1	1	0	0	1	4	1	4	1	3	2	2	1	3	5	4	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.1352A>T	p.Asn451Ile	p.N451I	ENST00000307340	8/72	301	270	31	423	423	0	strelka-varscan-mutect	USH2A,missense_variant,p.Asn451Ile,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Asn451Ile,ENST00000366942,NM_007123.5;	A	ENST00000307340	Transcript	missense_variant	1739/18883	1352/15609	451/5202	N/I	aAt/aTt		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		8/72		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00136																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	216323672	216323672	T	A	1	0	0	0	0	1	0	0	0	17570	1493	52	4		4	USH2A	1	216323672	Missense_Mutation	SNP	T	C3N-01489_TP	330595	216323672	32632750	82	26628											
HHIPL2	0	.	GRCh38	chr1	222540237	222540237	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catagatggcggggtgggccCctggctcagaaacaaatgga	11	6	15	9	1	1	2	1	0	0	2	1	3	1	3	2	6	1	1	2	6	3	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1223G>C	p.Gly408Ala	p.G408A	ENST00000343410	4/9	306	253	53	471	471	0	strelka-varscan-mutect	HHIPL2,missense_variant,p.Gly408Ala,ENST00000343410,NM_024746.3;HHIPL2,upstream_gene_variant,,ENST00000468172,;HHIPL2,upstream_gene_variant,,ENST00000494899,;	G	ENST00000343410	Transcript	missense_variant	1282/2575	1223/2175	408/724	G/A	gGg/gCg		1		-1	HHIPL2	HGNC	HGNC:25842	protein_coding	YES	CCDS1530.2	ENSP00000342118	Q6UWX4		UPI000004C60D	NM_024746.3	tolerated(0.32)		4/9		hmmpanther:PTHR19328:SF31,hmmpanther:PTHR19328,Gene3D:2.120.10.30,Pfam_domain:PF07995,Superfamily_domains:0046203																	MODERATE	1	SNV	1			1										PASS		rs913036719	.												G	3	3	81	222540237	222540237	C	G	1	0	0	0	0	1	0	0	0	6979	623	22	4		4	HHIPL2	1	222540237	Missense_Mutation	SNP	C	C3N-01489_TP	6216565	222540237	26416185	83	26629											
MIA3	0	.	GRCh38	chr1	222618163	222618163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtgctccggctgccctGgcgggtgccgggccagctgg	1	7	18	15	4	0	0	0	0	0	0	2	0	1	0	4	5	4	4	4	5	0	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.53G>T	p.Trp18Leu	p.W18L	ENST00000344922	1/28	147	124	23	149	148	1	strelka-varscan-mutect	MIA3,missense_variant,p.Trp18Leu,ENST00000344922,NM_001324064.1,NM_198551.3;MIA3,missense_variant,p.Trp18Leu,ENST00000344507,;MIA3,non_coding_transcript_exon_variant,,ENST00000470521,;	T	ENST00000344922	Transcript	missense_variant	78/8142	53/5724	18/1907	W/L	tGg/tTg		1		1	MIA3	HGNC	HGNC:24008	protein_coding	YES	CCDS41470.1	ENSP00000340900	Q5JRA6		UPI00001D75B3	NM_001324064.1,NM_198551.3	tolerated_low_confidence(0.16)		1/28		Low_complexity_(Seg):seg,hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF37,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	222618163	222618163	G	T	1	0	0	0	0	1	0	0	0	9522	1357	47	2		2	MIA3	1	222618163	Missense_Mutation	SNP	G	C3N-01489_TP	77926	222618163	26338259	84	26630											
DNAH14	0	.	GRCh38	chr1	225085763	225085763	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatacttgcaacaattaaaGgatctccccacattgggccc	12	10	6	13	0	2	0	1	0	1	0	3	1	2	1	3	2	3	1	3	2	5	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.3547G>C	p.Gly1183Arg	p.G1183R	ENST00000430092	21/84	152	141	11	257	257	0	strelka-varscan-mutect	DNAH14,missense_variant,p.Gly1183Arg,ENST00000430092,NM_001373.1;DNAH14,missense_variant,p.Gly1183Arg,ENST00000439375,;DNAH14,missense_variant,p.Gly1009Arg,ENST00000445597,;	C	ENST00000430092	Transcript	missense_variant	3762/13763	3547/13548	1183/4515	G/R	Gga/Cga		1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000414402	Q0VDD8		UPI000192C36D	NM_001373.1	deleterious(0)		21/84		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF254,Pfam_domain:PF08393																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	81	225085763	225085763	G	C	1	0	0	0	0	1	0	0	0	4415	1001	35	4		4	DNAH14	1	225085763	Missense_Mutation	SNP	G	C3N-01489_TP	2467600	225085763	23870659	85	26631											
DNAH14	0	.	GRCh38	chr1	225185410	225185410	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttatcagttgcagaaagAaaatctgcttcaaaggtaaa	16	12	7	6	0	4	2	2	0	2	2	4	2	4	2	0	1	2	4	0	1	7	5	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.5589A>G	p.=	p.R1863R	ENST00000430092	36/84	170	155	15	229	229	0	strelka-varscan-mutect	DNAH14,synonymous_variant,p.=,ENST00000430092,NM_001373.1;DNAH14,synonymous_variant,p.=,ENST00000439375,;DNAH14,synonymous_variant,p.=,ENST00000445597,;	G	ENST00000430092	Transcript	synonymous_variant	5804/13763	5589/13548	1863/4515	R	agA/agG		1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000414402	Q0VDD8		UPI000192C36D	NM_001373.1			36/84		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF254,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	81	225185410	225185410	A	G	1	0	0	0	0	0	0	0	1	4415	243	9	5		5	DNAH14	1	225185410	Silent	SNP	A	C3N-01489_TP	99647	225185410	23771012	86	26632											
LEFTY2	0	.	GRCh38	chr1	225940975	225940975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatactgggccctcacgtGggcggggatgaccagcttct	7	9	13	12	2	2	1	1	1	1	0	2	2	2	2	2	4	3	1	2	4	2	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.166C>A	p.His56Asn	p.H56N	ENST00000366820	1/4	263	244	19	333	332	1	strelka-varscan-mutect	LEFTY2,missense_variant,p.His56Asn,ENST00000366820,NM_003240.3;LEFTY2,missense_variant,p.His56Asn,ENST00000420304,NM_001172425.1;RP4-559A3.6,upstream_gene_variant,,ENST00000513672,;LEFTY2,upstream_gene_variant,,ENST00000474493,;	T	ENST00000366820	Transcript	missense_variant	515/2287	166/1101	56/366	H/N	Cac/Aac		1		-1	LEFTY2	HGNC	HGNC:3122	protein_coding	YES	CCDS1549.1	ENSP00000355785	O00292	A0A024R3P5	UPI0000136CBB	NM_003240.3	deleterious(0.05)		1/4		PIRSF_domain:PIRSF037402,Prints_domain:PR01427,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF167																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	225940975	225940975	G	T	1	0	0	0	0	1	0	0	0	8624	1348	47	2		2	LEFTY2	1	225940975	Missense_Mutation	SNP	G	C3N-01489_TP	755565	225940975	23015447	87	26633											
AGT	0	.	GRCh38	chr1	230706164	230706164	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtccacccagaactccTggggctcggccagcagggag	7	7	14	13	1	0	1	0	0	0	1	3	2	2	2	4	4	2	3	4	4	1	1	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.893A>T	p.Gln298Leu	p.Q298L	ENST00000366667	3/5	165	131	34	223	223	0	strelka-varscan-mutect	AGT,missense_variant,p.Gln298Leu,ENST00000366667,NM_000029.3;RP11-99J16__A.2,downstream_gene_variant,,ENST00000412344,;	A	ENST00000366667	Transcript	missense_variant	1108/2291	893/1458	298/485	Q/L	cAg/cTg		1		-1	AGT	HGNC	HGNC:333	protein_coding	YES	CCDS1585.1	ENSP00000355627	P01019	B0ZBE2	UPI0000125B13	NM_000029.3	deleterious(0)		3/5		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF13,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	230706164	230706164	T	A	1	0	0	0	0	1	0	0	0	478	1580	55	4		4	AGT	1	230706164	Missense_Mutation	SNP	T	C3N-01489_TP	4765189	230706164	18250258	88	26634											
TRIM67	0	.	GRCh38	chr1	231163844	231163844	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcgggggcgggggcgaCtgggggcagcacggcccgca	5	1	23	12	6	0	0	0	0	0	0	0	1	0	0	1	8	1	3	1	8	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.875C>G	p.Thr292Ser	p.T292S	ENST00000366653	1/10	168	148	20	211	211	0	strelka-mutect	TRIM67,missense_variant,p.Thr292Ser,ENST00000444294,;TRIM67,missense_variant,p.Thr292Ser,ENST00000366653,NM_001004342.3;TRIM67,missense_variant,p.Thr230Ser,ENST00000449018,NM_001300889.1;	G	ENST00000366653	Transcript	missense_variant	875/3936	875/2352	292/783	T/S	aCt/aGt		1		1	TRIM67	HGNC	HGNC:31859	protein_coding	YES	CCDS44333.1	ENSP00000355613	Q6ZTA4		UPI0000418F23	NM_001004342.3	tolerated(0.79)		1/10		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	81	231163844	231163844	C	G	1	0	0	0	0	1	0	0	0	17036	565	20	4		4	TRIM67	1	231163844	Missense_Mutation	SNP	C	C3N-01489_TP	457680	231163844	17792578	89	26635											
NID1	0	.	GRCh38	chr1	236024185	236024185	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgagtgccgatgtagcaGggattctgaagagcatcagg	11	8	14	8	1	2	3	1	2	1	1	2	5	2	4	2	2	3	3	2	2	2	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2013C>A	p.=	p.P671P	ENST00000264187	9/20	216	181	35	289	288	1	strelka-varscan	NID1,synonymous_variant,p.=,ENST00000264187,NM_002508.2;NID1,synonymous_variant,p.=,ENST00000366595,;	T	ENST00000264187	Transcript	synonymous_variant	2096/5864	2013/3744	671/1247	P	ccC/ccA		1		-1	NID1	HGNC	HGNC:7821	protein_coding	YES	CCDS1608.1	ENSP00000264187	P14543		UPI000013D4D9	NM_002508.2			9/20		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF107,SMART_domains:SM00181,Superfamily_domains:SSF57184																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	236024185	236024185	G	T	1	0	0	0	0	0	0	0	1	10447	987	35	2		2	NID1	1	236024185	Silent	SNP	G	C3N-01489_TP	4860341	236024185	12932237	90	26636											
MTR	0	.	GRCh38	chr1	236853078	236853078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccactgagaagctcttacGttatgcccaggtagagagac	11	8	12	10	1	1	3	0	1	1	3	1	5	1	3	2	2	3	3	2	2	4	3	rs751565093		C3N-01489_TP	C3N-01489_NB	G	G																c.1943G>T	p.Arg648Leu	p.R648L	ENST00000366577	18/33	453	392	61	600	599	1	strelka-varscan	MTR,missense_variant,p.Arg648Leu,ENST00000366577,NM_000254.2;MTR,missense_variant,p.Arg648Leu,ENST00000535889,NM_001291939.1;MTR,missense_variant,p.Arg202Leu,ENST00000366576,NM_001291940.1;MTR,non_coding_transcript_exon_variant,,ENST00000463959,;	T	ENST00000366577	Transcript	missense_variant	2337/10529	1943/3798	648/1265	R/L	cGt/cTt	rs751565093	1		1	MTR	HGNC	HGNC:7468	protein_coding	YES	CCDS1614.1	ENSP00000355536	Q99707		UPI0000036BC4	NM_000254.2	tolerated(0.13)		18/33		TIGRFAM_domain:TIGR02082,Gene3D:3.20.20.20,PIRSF_domain:PIRSF000381																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	236853078	236853078	G	T	1	0	0	0	0	1	0	0	0	9944	1145	40	1		1	MTR	1	236853078	Missense_Mutation	SNP	G	C3N-01489_TP	828893	236853078	12103344	91	26637											
RYR2	0	.	GRCh38	chr1	237655830	237655830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttcccagaaatatgaaCaagaacttttcaaactggca	16	12	5	8	0	1	3	1	1	0	2	2	3	2	3	1	1	3	1	1	1	6	5	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.7975C>A	p.Gln2659Lys	p.Q2659K	ENST00000366574	53/105	157	144	13	258	258	0	strelka-varscan	RYR2,missense_variant,p.Gln2659Lys,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Gln2643Lys,ENST00000360064,;	A	ENST00000366574	Transcript	missense_variant	8292/16562	7975/14904	2659/4967	Q/K	Caa/Aaa		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0.04)		53/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	237655830	237655830	C	A	1	0	0	0	0	1	0	0	0	14029	479	17	2		2	RYR2	1	237655830	Missense_Mutation	SNP	C	C3N-01489_TP	802752	237655830	11300592	92	26638											
RYR2	0	.	GRCh38	chr1	237819150	237819150	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatcatctttgacatcactTtcttcttctttgttattgtc	7	21	4	9	0	6	1	2	1	4	0	7	2	6	1	0	0	0	1	0	0	2	7	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.14548T>G	p.Phe4850Val	p.F4850V	ENST00000366574	101/105	153	137	16	273	272	1	strelka-varscan	RYR2,missense_variant,p.Phe4850Val,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Phe4833Val,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000608590,;	G	ENST00000366574	Transcript	missense_variant	14865/16562	14548/14904	4850/4967	F/V	Ttc/Gtc		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		101/105		Pfam_domain:PF00520,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	237819150	237819150	T	G	1	0	0	0	0	1	0	0	0	14029	1841	64	5		5	RYR2	1	237819150	Missense_Mutation	SNP	T	C3N-01489_TP	163320	237819150	11137272	93	26639											
HNRNPU	0	.	GRCh38	chr1	244863733	244863733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccgtcaccgcgaacagcGaggtggggccgctgctcttc	6	6	13	16	5	2	0	1	0	1	0	3	2	2	0	4	3	3	2	4	3	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.575C>T	p.Ser192Leu	p.S192L	ENST00000283179	1/14	226	189	37	309	309	0	strelka-varscan	HNRNPU,missense_variant,p.Ser192Leu,ENST00000444376,NM_004501.3;HNRNPU,missense_variant,p.Ser192Leu,ENST00000283179,NM_031844.2;HNRNPU,upstream_gene_variant,,ENST00000440865,;RP11-11N7.4,upstream_gene_variant,,ENST00000610145,;HNRNPU,non_coding_transcript_exon_variant,,ENST00000476241,;HNRNPU,upstream_gene_variant,,ENST00000366525,;HNRNPU,upstream_gene_variant,,ENST00000465881,;	A	ENST00000283179	Transcript	missense_variant	739/3704	575/2478	192/825	S/L	tCg/tTg		1		-1	HNRNPU	HGNC	HGNC:5048	protein_coding	YES	CCDS41479.1	ENSP00000283179	Q00839		UPI000040E1C8	NM_031844.2	tolerated(0.32)		1/14		hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	244863733	244863733	G	A	1	0	0	0	0	1	0	0	0	7168	1059	37	1		1	HNRNPU	1	244863733	Missense_Mutation	SNP	G	C3N-01489_TP	7044583	244863733	4092689	94	26640											
KIF26B	0	.	GRCh38	chr1	245688800	245688800	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccccgaagaaacgctcCaatccaggtaggcggctggg	12	4	13	12	3	0	2	0	0	0	2	2	3	2	2	4	4	1	3	4	4	5	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.5817C>A	p.=	p.S1939S	ENST00000407071	12/15	27	23	4	54	54	0	strelka-varscan	KIF26B,synonymous_variant,p.=,ENST00000366518,;KIF26B,synonymous_variant,p.=,ENST00000407071,NM_018012.3;KIF26B,downstream_gene_variant,,ENST00000483253,;	A	ENST00000407071	Transcript	synonymous_variant	6257/7287	5817/6327	1939/2108	S	tcC/tcA		1		1	KIF26B	HGNC	HGNC:25484	protein_coding	YES	CCDS44342.1	ENSP00000385545	Q2KJY2		UPI0000695D71	NM_018012.3			12/15																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	245688800	245688800	C	A	1	0	0	0	0	0	0	0	1	8160	581	21	2		2	KIF26B	1	245688800	Silent	SNP	C	C3N-01489_TP	825067	245688800	3267622	95	26641											
CNST	0	.	GRCh38	chr1	246665840	246665840	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgactttgcagacaacatgGacttctattacactaagtta	13	13	6	9	0	1	2	0	1	1	1	1	3	1	3	0	1	3	2	0	1	5	6	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2113G>T	p.Asp705Tyr	p.D705Y	ENST00000366513	11/11	179	158	21	246	245	1	strelka-varscan	CNST,missense_variant,p.Asp705Tyr,ENST00000366513,NM_152609.2;	T	ENST00000366513	Transcript	missense_variant	2382/5126	2113/2178	705/725	D/Y	Gac/Tac		1		1	CNST	HGNC	HGNC:26486	protein_coding	YES	CCDS1628.1	ENSP00000355470	Q6PJW8		UPI000013E1DF	NM_152609.2	deleterious(0)		11/11		Pfam_domain:PF15281,hmmpanther:PTHR28581																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	246665840	246665840	G	T	1	0	0	0	0	1	0	0	0	3416	1174	41	2		2	CNST	1	246665840	Missense_Mutation	SNP	G	C3N-01489_TP	977040	246665840	2290582	96	26642											
OR2C3	0	.	GRCh38	chr1	247532338	247532338	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaaagaagtacataggTgtgtggaggtgcacatctgt	13	9	14	5	0	1	2	0	0	1	2	1	3	1	3	0	3	2	3	0	3	5	2	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.174A>T	p.=	p.T58T	ENST00000366487	2/2	287	253	34	419	419	0	strelka-varscan	OR2C3,synonymous_variant,p.=,ENST00000366487,NM_198074.4;OR2C3,synonymous_variant,p.=,ENST00000617752,;GCSAML,intron_variant,,ENST00000366491,NM_001281834.1;GCSAML,intron_variant,,ENST00000536561,NM_001281853.1;GCSAML,intron_variant,,ENST00000366489,NM_001281835.1;GCSAML,intron_variant,,ENST00000623578,NM_001281837.1;GCSAML,intron_variant,,ENST00000463359,;GCSAML,intron_variant,,ENST00000527084,NM_001281836.1;GCSAML,intron_variant,,ENST00000527541,NM_001281838.1;GCSAML,intron_variant,,ENST00000529512,;GCSAML,intron_variant,,ENST00000526896,;GCSAML,intron_variant,,ENST00000531662,;	A	ENST00000366487	Transcript	synonymous_variant	536/2742	174/963	58/320	T	acA/acT		1		-1	OR2C3	HGNC	HGNC:15005	protein_coding	YES	CCDS1634.2	ENSP00000355443	Q8N628		UPI0000061EBD	NM_198074.4			2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF117,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW		SNV				1										PASS		.	.												A	2	1	81	247532338	247532338	T	A	1	0	0	0	0	0	0	0	1	11072	1683	59	4		4	OR2C3	1	247532338	Silent	SNP	T	C3N-01489_TP	866498	247532338	1424084	97	26643											
TRIM58	0	.	GRCh38	chr1	247876370	247876370	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggtcttcttcggccttacTttttcatctgtgatgcaact	5	18	7	11	1	4	1	1	1	3	0	5	1	4	1	1	2	3	1	1	2	2	5	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.1342T>A	p.Phe448Ile	p.F448I	ENST00000366481	6/6	274	244	30	383	383	0	strelka-varscan	TRIM58,missense_variant,p.Phe448Ile,ENST00000366481,NM_015431.3;	A	ENST00000366481	Transcript	missense_variant	1390/3225	1342/1461	448/486	F/I	Ttt/Att		1		1	TRIM58	HGNC	HGNC:24150	protein_coding	YES	CCDS1636.1	ENSP00000355437	Q8NG06		UPI000020590E	NM_015431.3	deleterious(0)		6/6		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF393,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	247876370	247876370	T	A	1	0	0	0	0	1	0	0	0	17024	1609	56	4		4	TRIM58	1	247876370	Missense_Mutation	SNP	T	C3N-01489_TP	344032	247876370	1080052	98	26644											
TSSC1	0	.	GRCh38	chr2	3338083	3338083	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctaatatgccagatttcacCcgcttgatggaggaggacat	11	10	11	9	1	1	2	1	1	0	1	1	5	1	5	2	3	1	2	2	3	2	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.193G>T	p.Gly65Cys	p.G65C	ENST00000382125	3/9	171	149	22	241	241	0	strelka-varscan-mutect	TSSC1,missense_variant,p.Gly65Cys,ENST00000398659,;TSSC1,missense_variant,p.Gly65Cys,ENST00000443925,;TSSC1,missense_variant,p.Gly65Cys,ENST00000382125,NM_003310.2;TSSC1,missense_variant,p.Gly65Cys,ENST00000444776,;TSSC1,intron_variant,,ENST00000441271,;TSSC1,non_coding_transcript_exon_variant,,ENST00000463662,;TSSC1,missense_variant,p.Gly65Cys,ENST00000435721,;TSSC1,3_prime_UTR_variant,,ENST00000406835,;TSSC1,intron_variant,,ENST00000455162,;	A	ENST00000382125	Transcript	missense_variant	386/1766	193/1164	65/387	G/C	Ggt/Tgt		1		-1	TSSC1	HGNC	HGNC:12383	protein_coding	YES	CCDS1651.1	ENSP00000371559	Q53HC9		UPI000006DFE1	NM_003310.2	deleterious(0)		3/9		hmmpanther:PTHR14205:SF15,hmmpanther:PTHR14205,Gene3D:2.130.10.10,Superfamily_domains:0049172																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	3338083	3338083	C	A	1	0	0	0	0	1	0	0	0	17174	623	22	2		2	TSSC1	2	3338083	Missense_Mutation	SNP	C	C3N-01489_TP		3338083	238855446	99	26645											
MYCN	0	.	GRCh38	chr2	15945586	15945586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaacaccaaggctgtcaCcacattcaccatcactgtgc	11	8	5	17	0	3	0	3	0	0	0	4	0	4	0	4	1	2	1	4	1	2	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.884C>A	p.Thr295Asn	p.T295N	ENST00000281043	3/3	256	239	17	357	357	0	strelka-varscan-mutect	MYCN,missense_variant,p.Thr295Asn,ENST00000281043,NM_001293233.1,NM_001293228.1,NM_005378.5;MYCNOS,upstream_gene_variant,,ENST00000420452,;MYCNOS,upstream_gene_variant,,ENST00000419083,;MYCNOS,upstream_gene_variant,,ENST00000453400,;MYCNOS,upstream_gene_variant,,ENST00000439180,;MYCNOS,upstream_gene_variant,,ENST00000448719,;	A	ENST00000281043	Transcript	missense_variant	1181/2602	884/1395	295/464	T/N	aCc/aAc		1		1	MYCN	HGNC	HGNC:7559	protein_coding	YES	CCDS1687.1	ENSP00000281043	P04198		UPI000012FAF8	NM_001293233.1,NM_001293228.1,NM_005378.5	tolerated(0.1)		3/3		Pfam_domain:PF01056,PIRSF_domain:PIRSF001705,hmmpanther:PTHR11514,hmmpanther:PTHR11514:SF3																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	81	15945586	15945586	C	A	1	0	0	0	0	1	0	0	0	10021	507	18	2		2	MYCN	2	15945586	Missense_Mutation	SNP	C	C3N-01489_TP	12607503	15945586	226247943	100	26646											
APOB	0	.	GRCh38	chr2	21012095	21012095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgcattttgcttagaGaaggtcatatccatcttgtt	10	15	9	7	0	2	1	1	0	1	1	3	2	3	1	1	1	3	4	1	1	3	6	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.4773C>A	p.Phe1591Leu	p.F1591L	ENST00000233242	26/29	85	74	11	135	134	1	strelka-varscan-mutect	APOB,missense_variant,p.Phe1591Leu,ENST00000233242,NM_000384.2;	T	ENST00000233242	Transcript	missense_variant	4901/14121	4773/13692	1591/4563	F/L	ttC/ttA		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2	tolerated(1)		26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	21012095	21012095	G	T	1	0	0	0	0	1	0	0	0	907	933	33	2		2	APOB	2	21012095	Missense_Mutation	SNP	G	C3N-01489_TP	5066509	21012095	221181434	101	26647											
APOB	0	.	GRCh38	chr2	21019884	21019884	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcacctccgttttggtggtAgagaccaaatgtaatgtgtt	10	14	10	7	1	1	1	1	0	0	1	2	2	2	1	3	2	0	4	3	2	3	5	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.2838T>C	p.=	p.S946S	ENST00000233242	19/29	436	400	36	585	585	0	strelka-varscan-mutect	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;APOB,downstream_gene_variant,,ENST00000399256,;AC010872.1,upstream_gene_variant,,ENST00000624225,;	G	ENST00000233242	Transcript	synonymous_variant	2966/14121	2838/13692	946/4563	S	tcT/tcC		1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			19/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA04,Superfamily_domains:SSF56968																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	81	21019884	21019884	A	G	1	0	0	0	0	0	0	0	1	907	407	15	5		5	APOB	2	21019884	Silent	SNP	A	C3N-01489_TP	7789	21019884	221173645	102	26648											
ASXL2	0	.	GRCh38	chr2	25750206	25750206	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttcggctgcacttcaccTtggctttcacactcttcttt	6	16	6	13	1	4	0	2	0	2	0	5	0	4	0	1	2	1	4	1	2	1	6	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.570A>G	p.=	p.Q190Q	ENST00000404843	8/10	186	168	18	315	315	0	strelka-varscan	ASXL2,synonymous_variant,p.=,ENST00000435504,NM_018263.4;ASXL2,synonymous_variant,p.=,ENST00000336112,;ASXL2,synonymous_variant,p.=,ENST00000404843,;	C	ENST00000404843	Transcript	synonymous_variant	1008/3299	570/2757	190/918	Q	caA/caG		1		-1	ASXL2	HGNC	HGNC:23805	protein_coding	YES		ENSP00000383920	Q76L83		UPI0000246C78				8/10		hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	81	25750206	25750206	T	C	1	0	0	0	0	0	0	0	1	1215	1606	56	5		5	ASXL2	2	25750206	Silent	SNP	T	C3N-01489_TP	4730322	25750206	216443323	103	26649											
OTOF	0	.	GRCh38	chr2	26458074	26458074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttttgaccatgtagccaGggaggctgtagaggaagagc	10	9	15	7	0	0	3	0	1	0	2	0	5	0	5	2	3	2	4	2	3	3	4	rs121908598		C3N-01489_TP	C3N-01489_NB	G	G																c.5960C>A	p.Pro1987His	p.P1987H	ENST00000403946	46/46	127	113	14	168	168	0	strelka-varscan	OTOF,missense_variant,p.Pro1987His,ENST00000403946,NM_001287489.1;OTOF,missense_variant,p.Pro1220His,ENST00000339598,NM_194323.2;OTOF,3_prime_UTR_variant,,ENST00000272371,NM_194248.2;OTOF,3_prime_UTR_variant,,ENST00000402415,NM_194322.2;OTOF,3_prime_UTR_variant,,ENST00000338581,NM_004802.3;DRC1,downstream_gene_variant,,ENST00000288710,NM_145038.3;DRC1,downstream_gene_variant,,ENST00000439066,;	T	ENST00000403946	Transcript	missense_variant	6067/6937	5960/5994	1987/1997	P/H	cCt/cAt	rs121908598	1		-1	OTOF	HGNC	HGNC:8515	protein_coding		CCDS74497.1	ENSP00000385255	Q9HC10		UPI000173A4A0	NM_001287489.1	deleterious(0)		46/46		Low_complexity_(Seg):seg,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32,Pfam_domain:PF16165										pathogenic							MODERATE		SNV	5		1	1										PASS		.	.												T	3	4	81	26458074	26458074	G	T	1	0	0	0	0	1	0	0	0	11369	1000	35	2		2	OTOF	2	26458074	Missense_Mutation	SNP	G	C3N-01489_TP	707868	26458074	215735455	104	26650											
FAM179A	0	.	GRCh38	chr2	29003536	29003536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgcaatgatgagaagatGcagaagtccctgggcgccat	12	7	12	10	1	0	4	0	2	0	3	1	5	1	4	2	1	2	2	2	1	3	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.684G>T	p.Met228Ile	p.M228I	ENST00000379558	6/20	81	68	13	121	121	0	strelka-varscan	FAM179A,missense_variant,p.Met228Ile,ENST00000379558,NM_199280.2;FAM179A,intron_variant,,ENST00000401723,;FAM179A,downstream_gene_variant,,ENST00000420297,;	T	ENST00000379558	Transcript	missense_variant	1035/12691	684/3060	228/1019	M/I	atG/atT		1		1	FAM179A	HGNC	HGNC:33715	protein_coding	YES	CCDS1769.2	ENSP00000368876	Q6ZUX3		UPI00014F7B81	NM_199280.2	tolerated(0.28)		6/20		hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF42																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	29003536	29003536	G	T	1	0	0	0	0	1	0	0	0	5350	1319	46	2		2	FAM179A	2	29003536	Missense_Mutation	SNP	G	C3N-01489_TP	2545462	29003536	213189993	105	26651											
ALK	0	.	GRCh38	chr2	29320882	29320882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaaacccacaggcagtttcCctatggagagagcagagagg	15	5	12	9	0	0	2	0	0	0	2	1	5	1	3	2	3	2	3	2	3	3	2			C3N-01489_TP	C3N-01489_NB	C	C																c.1415G>A	p.Arg472Gln	p.R472Q	ENST00000389048	7/29	355	300	55	496	496	0	strelka-varscan	ALK,missense_variant,p.Arg472Gln,ENST00000389048,NM_004304.4;ALK,missense_variant,p.Arg95Gln,ENST00000618119,;ALK,upstream_gene_variant,,ENST00000498037,;	T	ENST00000389048	Transcript	missense_variant,splice_region_variant	2322/6220	1415/4863	472/1620	R/Q	cGg/cAg	COSM4526739	1		-1	ALK	HGNC	HGNC:427	protein_coding	YES	CCDS33172.1	ENSP00000373700	Q9UM73		UPI00001684DA	NM_004304.4	tolerated(0.47)		7/29		SMART_domains:SM00192											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	81	29320882	29320882	C	T	1	0	0	0	0	1	0	0	0	625	637	22	3		3	ALK	2	29320882	Missense_Mutation	SNP	C	C3N-01489_TP	317346	29320882	212872647	106	26652											
XDH	0	.	GRCh38	chr2	31381639	31381639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggcagctcacctctggAcacaagtgtcagcttggccc	8	9	10	14	0	4	0	3	0	1	0	4	1	4	1	2	3	2	3	2	3	1	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.1126T>C	p.Ser376Pro	p.S376P	ENST00000379416	12/36	416	371	45	548	548	0	strelka-varscan	XDH,missense_variant,p.Ser376Pro,ENST00000379416,NM_000379.3;XDH,downstream_gene_variant,,ENST00000491727,;XDH,downstream_gene_variant,,ENST00000476043,;	G	ENST00000379416	Transcript	missense_variant	1175/5688	1126/4002	376/1333	S/P	Tcc/Ccc		1		-1	XDH	HGNC	HGNC:12805	protein_coding	YES	CCDS1775.1	ENSP00000368727	P47989		UPI0000036BC9	NM_000379.3	deleterious(0)		12/36		PROSITE_profiles:PS51387,hmmpanther:PTHR11908,hmmpanther:PTHR11908:SF78,Gene3D:3.30.465.10,TIGRFAM_domain:TIGR02963,Pfam_domain:PF00941,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF56176																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	31381639	31381639	A	G	1	0	0	0	0	1	0	0	0	17985	275	10	5		5	XDH	2	31381639	Missense_Mutation	SNP	A	C3N-01489_TP	2060757	31381639	210811890	107	26653											
LTBP1	0	.	GRCh38	chr2	33217640	33217641	+	Frame_Shift_Ins	INS	-	-	C																															tttaacaaatgccagaaatgINSccccaagaaaccatgtaagt																								novel		C3N-01489_TP	C3N-01489_NB	-	-																c.1794dupC	p.Lys599GlnfsTer19	p.K599Qfs*19	ENST00000404816	8/34	128	115	13	197	197	0	sindel-varindel-pindel	LTBP1,frameshift_variant,p.Lys599GlnfsTer19,ENST00000404816,NM_206943.2;LTBP1,frameshift_variant,p.Lys273GlnfsTer19,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,frameshift_variant,p.Lys273GlnfsTer19,ENST00000404525,NM_001166265.1;LTBP1,frameshift_variant,p.Lys273GlnfsTer19,ENST00000407925,NM_000627.3;LTBP1,frameshift_variant,p.Lys273GlnfsTer19,ENST00000402934,;	C	ENST00000404816	Transcript	frameshift_variant	2143-2144/6333	1790-1791/5166	597/1721	C/CX	tgc/tgCc		1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2			8/34		Gene3D:3.90.290.10,Pfam_domain:PF00683,PROSITE_profiles:PS51364,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF39,Superfamily_domains:SSF57581																	HIGH	1	insertion	5	4		1										PASS		.	.												C	7	5	81	33217640	33217640	-	C	1	0	1	1	0	0	0	0	0	8979	1319	46	0		0	LTBP1	2	33217640	Frame_Shift_Ins	INS	-	C3N-01489_TP	1836001	33217640	208975889	108	26654											
EIF2AK2	0	.	GRCh38	chr2	37122570	37122570	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaatcatcactggtctCaggatcataatcaaatccat	16	10	6	9	0	5	1	5	0	1	1	7	3	6	2	1	2	0	0	1	2	4	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1003G>T	p.Glu335Ter	p.E335*	ENST00000233057	12/17	247	217	30	343	343	0	strelka-varscan	EIF2AK2,stop_gained,p.Glu335Ter,ENST00000233057,;EIF2AK2,stop_gained,p.Glu335Ter,ENST00000395127,NM_001135651.2,NM_002759.3;EIF2AK2,stop_gained,p.Glu294Ter,ENST00000405334,NM_001135652.2;	A	ENST00000233057	Transcript	stop_gained	1326/10042	1003/1656	335/551	E/*	Gag/Tag		1		-1	EIF2AK2	HGNC	HGNC:9437	protein_coding	YES	CCDS1786.1	ENSP00000233057	P19525		UPI000000D925				12/17		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF102,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	81	37122570	37122570	C	A	1	0	0	0	0	0	1	0	0	4833	835	29	2		2	EIF2AK2	2	37122570	Nonsense_Mutation	SNP	C	C3N-01489_TP	3904930	37122570	205070959	109	26655											
EML4	0	.	GRCh38	chr2	42264704	42264704	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcttaaatttcttttctAggcataaagatgtcatcatc	11	18	5	7	0	5	1	2	0	3	1	6	1	5	1	0	1	0	2	0	1	5	7	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.642-2A>T		p.X214_splice	ENST00000318522		95	87	8	146	146	0	strelka-varscan	EML4,splice_acceptor_variant,,ENST00000318522,NM_019063.4;EML4,splice_acceptor_variant,,ENST00000401738,;EML4,splice_acceptor_variant,,ENST00000402711,NM_001145076.2;EML4,downstream_gene_variant,,ENST00000409040,;	T	ENST00000318522	Transcript	splice_acceptor_variant	-/5549	642/2946	214/981				1		1	EML4	HGNC	HGNC:1316	protein_coding	YES	CCDS1807.1	ENSP00000320663	Q9HC35		UPI0000140350	NM_019063.4				5/22																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	81	42264704	42264704	A	T	1	0	0	0	0	0	0	1	0	4942	434	15	4		4	EML4	2	42264704	Splice_Site	SNP	A	C3N-01489_TP	5142134	42264704	199928825	110	26656											
PLEKHH2	0	.	GRCh38	chr2	43700339	43700339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaaaaggcacttaagccagCcacagttaagctctgacagg	14	6	9	12	0	1	1	0	1	1	0	1	1	1	1	3	2	3	3	3	2	4	2	rs150493851		C3N-01489_TP	C3N-01489_NB	C	C																c.1381C>T	p.Pro461Ser	p.P461S	ENST00000282406	8/30	308	279	29	503	503	0	strelka-varscan	PLEKHH2,missense_variant,p.Pro461Ser,ENST00000282406,NM_172069.3;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405223,;PLEKHH2,downstream_gene_variant,,ENST00000491692,;	T	ENST00000282406	Transcript	missense_variant	1491/6981	1381/4482	461/1493	P/S	Cca/Tca	rs150493851	1		1	PLEKHH2	HGNC	HGNC:30506	protein_coding	YES	CCDS1812.1	ENSP00000282406	Q8IVE3		UPI000016021B	NM_172069.3	deleterious(0)		8/30		hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	43700339	43700339	C	T	1	0	0	0	0	1	0	0	0	12170	739	26	3		3	PLEKHH2	2	43700339	Missense_Mutation	SNP	C	C3N-01489_TP	1435635	43700339	198493190	111	26657											
ABCG8	0	.	GRCh38	chr2	43877684	43877684	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcgcggtctcaggagAtaaagtaagcggggaaggcc	12	5	14	10	3	1	1	1	0	1	1	3	3	1	2	2	5	1	1	2	5	4	2	rs768950847		C3N-01489_TP	C3N-01489_NB	A	A																c.1880A>T	p.Asp627Val	p.D627V	ENST00000272286	12/13	421	371	50	622	621	1	strelka-varscan	ABCG8,missense_variant,p.Asp627Val,ENST00000272286,NM_022437.2;	T	ENST00000272286	Transcript	missense_variant	1970/2665	1880/2022	627/673	D/V	gAt/gTt	rs768950847	1		1	ABCG8	HGNC	HGNC:13887	protein_coding	YES	CCDS1815.1	ENSP00000272286	Q9H221		UPI000004C4CD	NM_022437.2	tolerated(0.09)		12/13		hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF239																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	43877684	43877684	A	T	1	0	0	0	0	1	0	0	0	76	347	12	4		4	ABCG8	2	43877684	Missense_Mutation	SNP	A	C3N-01489_TP	177345	43877684	198315845	112	26658											
NRXN1	0	.	GRCh38	chr2	50620149	50620149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcttcttgcgtgtagcccGttgtggtaagaatcccatcc	8	13	9	11	2	2	1	0	0	2	1	4	1	4	1	3	1	2	3	3	1	4	5	rs147400611		C3N-01489_TP	C3N-01489_NB	G	G																c.1313C>A	p.Thr438Lys	p.T438K	ENST00000404971	9/24	146	128	18	239	239	0	strelka-varscan	NRXN1,missense_variant,p.Thr398Lys,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Thr390Lys,ENST00000625672,;NRXN1,missense_variant,p.Thr438Lys,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Thr398Lys,ENST00000401669,;NRXN1,missense_variant,p.Thr386Lys,ENST00000405472,;NRXN1,missense_variant,p.Thr390Lys,ENST00000630543,;NRXN1,missense_variant,p.Thr370Lys,ENST00000628515,;NRXN1,missense_variant,p.Thr128Lys,ENST00000406859,;NRXN1,missense_variant,p.Thr113Lys,ENST00000402717,;NRXN1,missense_variant,p.Thr125Lys,ENST00000625891,;NRXN1,upstream_gene_variant,,ENST00000495871,;RP11-358H12.1,upstream_gene_variant,,ENST00000634985,;NRXN1,non_coding_transcript_exon_variant,,ENST00000636298,;NRXN1,non_coding_transcript_exon_variant,,ENST00000628761,;NRXN1,downstream_gene_variant,,ENST00000630431,;NRXN1,upstream_gene_variant,,ENST00000637605,;NRXN1,missense_variant,p.Thr125Lys,ENST00000331040,;NRXN1,3_prime_UTR_variant,,ENST00000626249,;	T	ENST00000404971	Transcript	missense_variant	2653/7578	1313/4644	438/1547	T/K	aCg/aAg	rs147400611	1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	deleterious(0.03)		9/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	50620149	50620149	G	T	1	0	0	0	0	1	0	0	0	10724	1145	40	1		1	NRXN1	2	50620149	Missense_Mutation	SNP	G	C3N-01489_TP	6742465	50620149	191573380	113	26659											
EML6	0	.	GRCh38	chr2	54950748	54950748	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcatcttccacacagcAgcggctggcatcgttcagaa	11	8	9	13	2	3	1	2	0	1	1	5	2	4	1	1	2	2	4	1	2	1	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.4182A>T	p.=	p.A1394A	ENST00000356458	29/41	158	147	11	205	203	2	strelka-varscan	EML6,synonymous_variant,p.=,ENST00000356458,NM_001039753.2;EML6,non_coding_transcript_exon_variant,,ENST00000481376,;EML6,upstream_gene_variant,,ENST00000490828,;	T	ENST00000356458	Transcript	synonymous_variant	4702/8320	4182/5877	1394/1958	A	gcA/gcT		1		1	EML6	HGNC	HGNC:35412	protein_coding	YES	CCDS46286.1	ENSP00000348842	Q6ZMW3		UPI00006C0432	NM_001039753.2			29/41		Pfam_domain:PF03451																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	81	54950748	54950748	A	T	1	0	0	0	0	0	0	0	1	4944	175	7	4		4	EML6	2	54950748	Silent	SNP	A	C3N-01489_TP	4330599	54950748	187242781	114	26660											
VRK2	0	.	GRCh38	chr2	58089633	58089633	+	Frame_Shift_Del	DEL	G	G	-																															atctatttattttcacagttGgatgtactggaatatataca																								rs772465160		C3N-01489_TP	C3N-01489_NB	G	G																c.454delG	p.Asp152MetfsTer16	p.D152Mfs*16	ENST00000435505	10/16	60	55	5	131	131	0	varindel-pindel	VRK2,frameshift_variant,p.Asp152MetfsTer16,ENST00000435505,NM_001288837.1;VRK2,frameshift_variant,p.Asp152MetfsTer16,ENST00000417641,NM_001288838.1,NM_001130483.2;VRK2,frameshift_variant,p.Asp34MetfsTer16,ENST00000412104,NM_001288839.1,NM_001288836.1;VRK2,frameshift_variant,p.Asp152MetfsTer16,ENST00000340157,NM_001130480.2,NM_006296.6,NM_001130481.2;VRK2,frameshift_variant,p.Asp129MetfsTer16,ENST00000440705,NM_001130482.2;VRK2,downstream_gene_variant,,ENST00000428021,;VRK2,splice_region_variant,,ENST00000432057,;	-	ENST00000435505	Transcript	frameshift_variant,splice_region_variant	1198/2446	453/1527	151/508	L/X	ttG/tt	rs772465160	1		1	VRK2	HGNC	HGNC:12719	protein_coding	YES	CCDS1859.1	ENSP00000408002	Q86Y07		UPI000013D498	NM_001288837.1			10/16		PROSITE_profiles:PS50011,hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF100,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	81	58089633	58089633	G	-	1	0	1	0	1	0	0	0	0	17769	1362	47	0		0	VRK2	2	58089633	Frame_Shift_Del	DEL	G	C3N-01489_TP	3138885	58089633	184103896	115	26661											
VRK2	0	.	GRCh38	chr2	58123209	58123209	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggacaatagagtttaccAgcttggatgcccacaaggga	13	8	12	8	0	0	1	0	0	0	1	0	4	0	4	2	3	3	2	2	3	4	4	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.652A>T	p.Ser218Cys	p.S218C	ENST00000435505	11/16	196	175	21	319	318	1	strelka-varscan	VRK2,missense_variant,p.Ser218Cys,ENST00000435505,NM_001288837.1;VRK2,missense_variant,p.Ser218Cys,ENST00000417641,NM_001288838.1,NM_001130483.2;VRK2,missense_variant,p.Ser100Cys,ENST00000412104,NM_001288839.1,NM_001288836.1;VRK2,missense_variant,p.Ser218Cys,ENST00000340157,NM_001130480.2,NM_006296.6,NM_001130481.2;VRK2,missense_variant,p.Ser195Cys,ENST00000440705,NM_001130482.2;VRK2,3_prime_UTR_variant,,ENST00000432057,;	T	ENST00000435505	Transcript	missense_variant	1397/2446	652/1527	218/508	S/C	Agc/Tgc		1		1	VRK2	HGNC	HGNC:12719	protein_coding	YES	CCDS1859.1	ENSP00000408002	Q86Y07		UPI000013D498	NM_001288837.1	deleterious(0)		11/16		PROSITE_profiles:PS50011,hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF100,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	58123209	58123209	A	T	1	0	0	0	0	1	0	0	0	17769	188	7	4		4	VRK2	2	58123209	Missense_Mutation	SNP	A	C3N-01489_TP	33576	58123209	184070320	116	26662											
WDPCP	0	.	GRCh38	chr2	63404288	63404288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaaatttgcaactcccCttggttgctgccaactagca	12	11	6	12	0	1	0	1	0	0	0	2	0	2	0	3	1	6	4	3	1	5	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1195G>T	p.Gly399Trp	p.G399W	ENST00000272321	10/18	139	117	22	179	179	0	strelka-varscan	WDPCP,missense_variant,p.Gly207Trp,ENST00000409120,;WDPCP,missense_variant,p.Gly399Trp,ENST00000409562,;WDPCP,missense_variant,p.Gly399Trp,ENST00000272321,NM_015910.5;WDPCP,missense_variant,p.Gly207Trp,ENST00000409199,;WDPCP,missense_variant,p.Gly240Trp,ENST00000398544,NM_001042692.2;WDPCP,non_coding_transcript_exon_variant,,ENST00000409835,;WDPCP,missense_variant,p.Gly186Trp,ENST00000409354,;WDPCP,3_prime_UTR_variant,,ENST00000417238,;WDPCP,non_coding_transcript_exon_variant,,ENST00000493315,;	A	ENST00000272321	Transcript	missense_variant	1723/3392	1195/2241	399/746	G/W	Ggg/Tgg		1		-1	WDPCP	HGNC	HGNC:28027	protein_coding	YES	CCDS42688.1	ENSP00000272321	O95876		UPI000013D946	NM_015910.5	deleterious(0)		10/18		hmmpanther:PTHR13667:SF5,hmmpanther:PTHR13667,Pfam_domain:PF11768,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	63404288	63404288	C	A	1	0	0	0	0	1	0	0	0	17833	681	24	2		2	WDPCP	2	63404288	Missense_Mutation	SNP	C	C3N-01489_TP	5281079	63404288	178789241	117	26663											
BMP10	0	.	GRCh38	chr2	68871071	68871071	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggcagagggcatggaggtCcgatctgttgcaaatttgtt	8	13	14	6	1	1	1	0	0	1	1	2	3	2	2	1	4	1	5	1	4	1	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.288G>T	p.=	p.R96R	ENST00000295379	1/2	148	131	17	205	205	0	strelka-varscan	BMP10,synonymous_variant,p.=,ENST00000295379,NM_014482.1;	A	ENST00000295379	Transcript	synonymous_variant	447/1584	288/1275	96/424	R	cgG/cgT		1		-1	BMP10	HGNC	HGNC:20869	protein_coding	YES	CCDS1890.1	ENSP00000295379	O95393		UPI0000126A11	NM_014482.1			1/2		hmmpanther:PTHR11848:SF39,hmmpanther:PTHR11848,Pfam_domain:PF00688																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	68871071	68871071	C	A	1	0	0	0	0	0	0	0	1	1612	842	30	2		2	BMP10	2	68871071	Silent	SNP	C	C3N-01489_TP	5466783	68871071	173322458	118	26664											
ADD2	0	.	GRCh38	chr2	70663527	70663527	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttggaaggtgagccctctggGgacatggggccgctggtgac	6	8	18	9	1	1	2	0	2	1	0	1	4	1	4	2	7	1	1	2	7	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2079C>A	p.=	p.S693S	ENST00000264436	16/16	289	255	34	428	427	1	strelka-varscan	ADD2,synonymous_variant,p.=,ENST00000264436,NM_001617.3;ADD2,synonymous_variant,p.=,ENST00000407644,NM_001185054.1;ADD2,3_prime_UTR_variant,,ENST00000355733,NM_017488.3;ADD2,synonymous_variant,p.=,ENST00000403045,;ADD2,non_coding_transcript_exon_variant,,ENST00000481675,;	T	ENST00000264436	Transcript	synonymous_variant	2524/9267	2079/2181	693/726	S	tcC/tcA		1		-1	ADD2	HGNC	HGNC:244	protein_coding	YES	CCDS1906.1	ENSP00000264436	P35612		UPI0000125503	NM_001617.3			16/16		Low_complexity_(Seg):seg,hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF6																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	70663527	70663527	G	T	1	0	0	0	0	0	0	0	1	349	1219	43	2		2	ADD2	2	70663527	Silent	SNP	G	C3N-01489_TP	1792456	70663527	171530002	119	26665											
EMX1	0	.	GRCh38	chr2	72924323	72924323	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagccagcgacgtgcccCaggacgggctgcttctgcac	6	5	13	17	4	1	0	0	0	1	0	1	2	1	1	4	2	5	4	4	2	0	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.535C>T	p.Gln179Ter	p.Q179*	ENST00000258106	2/3	365	331	34	428	427	1	strelka-varscan	EMX1,stop_gained,p.Gln179Ter,ENST00000258106,NM_004097.2;EMX1,stop_gained,p.Gln57Ter,ENST00000473732,;EMX1,missense_variant,p.Pro131Leu,ENST00000394111,;EMX1,non_coding_transcript_exon_variant,,ENST00000491023,;EMX1,non_coding_transcript_exon_variant,,ENST00000464675,;	T	ENST00000258106	Transcript	stop_gained	913/2188	535/873	179/290	Q/*	Cag/Tag		1		1	EMX1	HGNC	HGNC:3340	protein_coding	YES	CCDS1921.2	ENSP00000258106	Q04741		UPI0000D47CF7	NM_004097.2			2/3		hmmpanther:PTHR24339,hmmpanther:PTHR24339:SF26,Superfamily_domains:SSF46689																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	81	72924323	72924323	C	T	1	0	0	0	0	0	1	0	0	4949	595	21	3		3	EMX1	2	72924323	Nonsense_Mutation	SNP	C	C3N-01489_TP	2260796	72924323	169269206	120	26666											
ALMS1	0	.	GRCh38	chr2	73450824	73450824	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactttctactcacacacaGagaagcctggtagtttctac	11	12	6	12	0	3	1	1	0	2	1	3	2	3	1	1	1	4	2	1	1	5	6	rs577224267		C3N-01489_TP	C3N-01489_NB	G	G																c.4297G>T	p.Glu1433Ter	p.E1433*	ENST00000613296	8/23	144	132	12	249	249	0	strelka-varscan	ALMS1,stop_gained,p.Glu1433Ter,ENST00000613296,NM_015120.4;ALMS1,stop_gained,p.Glu1391Ter,ENST00000484298,;ALMS1,stop_gained,p.Glu1433Ter,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000620466,;ALMS1,upstream_gene_variant,,ENST00000423048,;	T	ENST00000613296	Transcript	stop_gained	4408/12925	4297/12507	1433/4168	E/*	Gag/Tag	rs577224267	1		1	ALMS1	HGNC	HGNC:428	protein_coding	YES	CCDS42697.1	ENSP00000482968		A0A087WZY3	UPI00046209B2	NM_015120.4			8/23																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	81	73450824	73450824	G	T	1	0	0	0	0	0	1	0	0	635	943	33	2		2	ALMS1	2	73450824	Nonsense_Mutation	SNP	G	C3N-01489_TP	526501	73450824	168742705	121	26667											
LRRTM1	0	.	GRCh38	chr2	80302562	80302562	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatctgcacggcgttctCggcgtgctcgccgcctggaa	4	9	15	13	6	2	0	0	0	2	0	4	2	2	2	2	4	2	3	2	4	1	1	rs200735251		C3N-01489_TP	C3N-01489_NB	C	C																c.1258G>T	p.Glu420Ter	p.E420*	ENST00000295057	2/2	171	157	14	222	222	0	strelka-varscan	LRRTM1,stop_gained,p.Glu420Ter,ENST00000295057,;LRRTM1,stop_gained,p.Glu420Ter,ENST00000409148,NM_178839.4;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.2;CTNNA2,intron_variant,,ENST00000629316,NM_001164883.1;CTNNA2,upstream_gene_variant,,ENST00000541047,NM_001282600.1;LRRTM1,downstream_gene_variant,,ENST00000416268,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000415098,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,stop_gained,p.Glu420Ter,ENST00000433224,;LRRTM1,stop_gained,p.Glu420Ter,ENST00000417012,;	A	ENST00000295057	Transcript	stop_gained	1915/2599	1258/1569	420/522	E/*	Gag/Tag	rs200735251,COSM226504,COSM226505	1		-1	LRRTM1	HGNC	HGNC:19408	protein_coding	YES	CCDS1966.1	ENSP00000295057	Q86UE6		UPI000013E1FE				2/2		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3											0,1,1						HIGH	1	SNV	1		0,1,1	1										PASS		.	.												A	4	1	81	80302562	80302562	C	A	1	0	0	0	0	0	1	0	0	8945	893	31	1		1	LRRTM1	2	80302562	Nonsense_Mutation	SNP	C	C3N-01489_TP	6851738	80302562	161890967	122	26668											
SFTPB	0	.	GRCh38	chr2	85663492	85663492	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattctcctgtcggcgaccCtggagatgtgagcattaggg	7	10	13	11	2	1	2	0	1	1	1	3	4	1	2	3	3	1	1	3	3	1	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.893-1G>A		p.X298_splice	ENST00000409383		497	437	60	662	661	1	strelka-varscan	SFTPB,splice_acceptor_variant,,ENST00000393822,;SFTPB,splice_acceptor_variant,,ENST00000519937,;SFTPB,splice_acceptor_variant,,ENST00000409383,NM_198843.2,NM_000542.3;SFTPB,intron_variant,,ENST00000428225,;SFTPB,upstream_gene_variant,,ENST00000494165,;SFTPB,non_coding_transcript_exon_variant,,ENST00000491167,;SFTPB,downstream_gene_variant,,ENST00000473692,;	T	ENST00000409383	Transcript	splice_acceptor_variant	-/1867	893/1182	298/393				1		-1	SFTPB	HGNC	HGNC:10801	protein_coding	YES	CCDS1983.2	ENSP00000386346		D6W5L6	UPI0000421A06	NM_198843.2,NM_000542.3				8/11																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	81	85663492	85663492	C	T	1	0	0	0	0	0	0	1	0	14451	695	24	3		3	SFTPB	2	85663492	Splice_Site	SNP	C	C3N-01489_TP	5360930	85663492	156530037	123	26669											
RNF103	0	.	GRCh38	chr2	86604582	86604582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcatcattgttgttgttgCgccttctcttcttctcaaag	5	19	6	11	1	5	0	3	0	3	0	7	0	5	0	1	0	1	3	1	0	1	8	rs375282269		C3N-01489_TP	C3N-01489_NB	C	C																c.1319G>T	p.Arg440Leu	p.R440L	ENST00000237455	4/4	162	144	18	229	229	0	strelka-varscan	RNF103,missense_variant,p.Arg440Leu,ENST00000237455,NM_005667.3;RNF103-CHMP3,intron_variant,,ENST00000604011,NM_001198954.1;RNF103-CHMP3,intron_variant,,ENST00000440757,;AC015971.2,intron_variant,,ENST00000426549,;AC015971.2,intron_variant,,ENST00000424788,;AC015971.2,intron_variant,,ENST00000597638,;AC015971.2,intron_variant,,ENST00000439077,;RNF103,intron_variant,,ENST00000463333,;RNF103,downstream_gene_variant,,ENST00000477307,;RNF103,non_coding_transcript_exon_variant,,ENST00000472030,;	A	ENST00000237455	Transcript	missense_variant	2288/3477	1319/2058	440/685	R/L	cGc/cTc	rs375282269	1		-1	RNF103	HGNC	HGNC:12859	protein_coding	YES	CCDS33237.1	ENSP00000237455	O00237		UPI0000073F2A	NM_005667.3	tolerated(0.68)		4/4		hmmpanther:PTHR15302,hmmpanther:PTHR15302:SF0,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	86604582	86604582	C	A	1	0	0	0	0	1	0	0	0	13601	768	27	1		1	RNF103	2	86604582	Missense_Mutation	SNP	C	C3N-01489_TP	941090	86604582	155588947	124	26670											
ASTL	0	.	GRCh38	chr2	96132622	96132622	+	Frame_Shift_Del	DEL	C	C	-																															tgccagaagcccagcacatgCatgagctcatgaaggacaat																								novel		C3N-01489_TP	C3N-01489_NB	C	C																c.555delG	p.Met185IlefsTer43	p.M185Ifs*43	ENST00000342380	6/9	106	95	11	130	130	0	sindel-varindel-pindel	ASTL,frameshift_variant,p.Met185IlefsTer43,ENST00000342380,NM_001002036.3;ASTL,downstream_gene_variant,,ENST00000470582,;	-	ENST00000342380	Transcript	frameshift_variant	555/1296	555/1296	185/431	M/X	atG/at		1		-1	ASTL	HGNC	HGNC:31704	protein_coding	YES	CCDS33249.1	ENSP00000343674	Q6HA08		UPI0000161978	NM_001002036.3			6/9		Gene3D:3.40.390.10,Pfam_domain:PF01400,Prints_domain:PR00480,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF649,SMART_domains:SM00235,Superfamily_domains:SSF55486																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	81	96132622	96132622	C	-	1	0	1	0	1	0	0	0	0	1210	710	25	0		0	ASTL	2	96132622	Frame_Shift_Del	DEL	C	C3N-01489_TP	9528040	96132622	146060907	125	26671											
NCAPH	0	.	GRCh38	chr2	96343256	96343256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacagagtccttggggggCtgggcaaagatgcaccgtct	9	9	14	9	1	1	2	0	0	1	2	2	2	2	2	2	4	2	3	2	4	3	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.547C>T	p.=	p.L183L	ENST00000240423	5/18	117	105	12	152	152	0	strelka-varscan	NCAPH,synonymous_variant,p.=,ENST00000455200,;NCAPH,synonymous_variant,p.=,ENST00000240423,NM_015341.4,NM_001281710.1,NM_001281711.1;NCAPH,synonymous_variant,p.=,ENST00000427946,NM_001281712.1;NCAPH,synonymous_variant,p.=,ENST00000435975,;NCAPH,intron_variant,,ENST00000456906,;NCAPH,non_coding_transcript_exon_variant,,ENST00000477409,;	T	ENST00000240423	Transcript	synonymous_variant	590/2763	547/2226	183/741	L	Ctg/Ttg		1		1	NCAPH	HGNC	HGNC:1112	protein_coding	YES	CCDS2021.1	ENSP00000240423	Q15003		UPI0000163F72	NM_015341.4,NM_001281710.1,NM_001281711.1			5/18		hmmpanther:PTHR13108,Pfam_domain:PF05786,PIRSF_domain:PIRSF017126																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	96343256	96343256	C	T	1	0	0	0	0	0	0	0	1	10225	796	28	3		3	NCAPH	2	96343256	Silent	SNP	C	C3N-01489_TP	210634	96343256	145850273	126	26672											
RFX8	0	.	GRCh38	chr2	101402557	101402557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccccagtggctccatgctgGggctggcacacgcctgcgac	5	6	13	17	2	0	0	0	0	0	0	1	1	1	0	4	4	2	4	4	4	0	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1124C>A	p.Pro375His	p.P375H	ENST00000428343	11/12	261	234	27	348	348	0	strelka-varscan	RFX8,missense_variant,p.Pro375His,ENST00000428343,NM_001145664.1;RFX8,3_prime_UTR_variant,,ENST00000481179,;	T	ENST00000428343	Transcript	missense_variant	1244/1686	1124/1422	375/473	P/H	cCc/cAc		1		-1	RFX8	HGNC	HGNC:37253	protein_coding	YES	CCDS46376.1	ENSP00000401536	Q6ZV50		UPI0001AE76D5	NM_001145664.1	deleterious(0.04)		11/12		hmmpanther:PTHR12619:SF24,hmmpanther:PTHR12619																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	81	101402557	101402557	G	T	1	0	0	0	0	1	0	0	0	13443	1232	43	2		2	RFX8	2	101402557	Missense_Mutation	SNP	G	C3N-01489_TP	5059301	101402557	140790972	127	26673											
IL18RAP	0	.	GRCh38	chr2	102424385	102424385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcagctgccaaagtgatGcacaaagtccagcggtaacc	12	7	10	12	1	1	1	1	1	1	0	3	1	2	1	3	1	5	3	3	1	3	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.550G>T	p.Ala184Ser	p.A184S	ENST00000264260	5/12	123	102	21	185	185	0	strelka-varscan	IL18RAP,missense_variant,p.Ala184Ser,ENST00000264260,NM_003853.3;IL18RAP,missense_variant,p.Ala42Ser,ENST00000409369,;IL18RAP,downstream_gene_variant,,ENST00000450855,;IL18RAP,downstream_gene_variant,,ENST00000497795,;	T	ENST00000264260	Transcript	missense_variant	1139/2773	550/1800	184/599	A/S	Gca/Tca		1		1	IL18RAP	HGNC	HGNC:5989	protein_coding	YES	CCDS2061.1	ENSP00000264260	O95256		UPI0000071CAF	NM_003853.3	tolerated(0.1)		5/12		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF23,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	102424385	102424385	G	T	1	0	0	0	0	1	0	0	0	7556	1319	46	2		2	IL18RAP	2	102424385	Missense_Mutation	SNP	G	C3N-01489_TP	1021828	102424385	139769144	128	26674											
NCK2	0	.	GRCh38	chr2	105881657	105881657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgagcctgcgcaagggcGcctcgctgagcaatggccag	7	6	14	14	3	0	2	0	2	0	0	2	2	1	2	4	2	3	3	4	2	2	0	rs755385208		C3N-01489_TP	C3N-01489_NB	G	G																c.556G>A	p.Ala186Thr	p.A186T	ENST00000233154	4/5	67	55	12	133	133	0	strelka-varscan	NCK2,missense_variant,p.Ala186Thr,ENST00000233154,NM_003581.4;NCK2,missense_variant,p.Ala186Thr,ENST00000393349,NM_001004720.2;NCK2,intron_variant,,ENST00000451463,NM_001004722.3;NCK2,intron_variant,,ENST00000522586,;NCK2,downstream_gene_variant,,ENST00000393348,;NCK2,downstream_gene_variant,,ENST00000425756,;	A	ENST00000233154	Transcript	missense_variant	998/2683	556/1143	186/380	A/T	Gcc/Acc	rs755385208,COSM5511752,COSM5511753	1		1	NCK2	HGNC	HGNC:7665	protein_coding	YES	CCDS33266.1	ENSP00000233154	O43639	A0A0S2Z4M6	UPI000012FE3F	NM_003581.4	tolerated(0.17)		4/5		PIRSF_domain:PIRSF037874,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF159											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		.	.												A	3	1	81	105881657	105881657	G	A	1	0	0	0	0	1	0	0	0	10238	1087	38	1		1	NCK2	2	105881657	Missense_Mutation	SNP	G	C3N-01489_TP	3457272	105881657	136311872	129	26675											
SH3RF3	0	.	GRCh38	chr2	109129641	109129641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcgagcgacggcggcgtcGggcggcggccaccgccgcgg	4	1	21	15	11	0	0	0	0	0	0	1	2	0	0	3	7	1	0	3	7	0	0	rs549801912		C3N-01489_TP	C3N-01489_NB	G	G																c.101G>T	p.Arg34Leu	p.R34L	ENST00000309415	1/10	108	100	8	159	159	0	strelka-varscan	SH3RF3,missense_variant,p.Arg34Leu,ENST00000309415,NM_001099289.2;SH3RF3-AS1,upstream_gene_variant,,ENST00000567491,;	T	ENST00000309415	Transcript	missense_variant	294/5803	101/2649	34/882	R/L	cGg/cTg	rs549801912	1		1	SH3RF3	HGNC	HGNC:24699	protein_coding	YES	CCDS74557.1	ENSP00000309186	Q8TEJ3		UPI0000DD7AEA	NM_001099289.2	tolerated_low_confidence(0.07)		1/10		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	109129641	109129641	G	T	1	0	0	0	0	1	0	0	0	14519	1116	39	1		1	SH3RF3	2	109129641	Missense_Mutation	SNP	G	C3N-01489_TP	3247984	109129641	133063888	130	26676											
PAX8	0	.	GRCh38	chr2	113235423	113235423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcctggcccgtgaactgcCcgtacacggaggcagcatgg	7	5	16	13	3	0	1	0	1	0	0	0	2	0	2	3	5	4	3	3	5	2	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1058G>A	p.Gly353Glu	p.G353E	ENST00000263334	9/12	118	97	21	160	160	0	strelka-varscan	PAX8,missense_variant,p.Gly353Glu,ENST00000263334,;PAX8,missense_variant,p.Gly353Glu,ENST00000429538,NM_003466.3;PAX8,missense_variant,p.Gly327Ser,ENST00000348715,NM_013952.3;PAX8,missense_variant,p.Gly8Glu,ENST00000465084,;PAX8,5_prime_UTR_variant,,ENST00000497038,;PAX8,intron_variant,,ENST00000263335,NM_013953.3;PAX8,intron_variant,,ENST00000397647,NM_013992.3;PAX8,intron_variant,,ENST00000468980,;PAX8-AS1,intron_variant,,ENST00000456685,;PAX8-AS1,upstream_gene_variant,,ENST00000422956,;PAX8-AS1,upstream_gene_variant,,ENST00000436293,;PAX8-AS1,upstream_gene_variant,,ENST00000445745,;PAX8-AS1,upstream_gene_variant,,ENST00000437551,;PAX8-AS1,upstream_gene_variant,,ENST00000333145,;PAX8-AS1,upstream_gene_variant,,ENST00000451179,;PAX8-AS1,upstream_gene_variant,,ENST00000623306,;PAX8-AS1,upstream_gene_variant,,ENST00000617509,;PAX8-AS1,upstream_gene_variant,,ENST00000431844,;PAX8-AS1,upstream_gene_variant,,ENST00000556070,;PAX8-AS1,upstream_gene_variant,,ENST00000553869,;PAX8-AS1,upstream_gene_variant,,ENST00000616073,;PAX8-AS1,upstream_gene_variant,,ENST00000624706,;PAX8,non_coding_transcript_exon_variant,,ENST00000485840,;PAX8,non_coding_transcript_exon_variant,,ENST00000554352,;PAX8-AS1,upstream_gene_variant,,ENST00000613966,;PAX8-AS1,upstream_gene_variant,,ENST00000555766,;	T	ENST00000263334	Transcript	missense_variant	1321/4152	1058/1353	353/450	G/E	gGg/gAg		1		-1	PAX8	HGNC	HGNC:8622	protein_coding	YES	CCDS46398.1	ENSP00000263334	Q06710	R9W7C9	UPI0000071DEC		deleterious(0.01)		9/12		Pfam_domain:PF12403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	113235423	113235423	C	T	1	0	0	0	0	1	0	0	0	11570	623	22	3		3	PAX8	2	113235423	Missense_Mutation	SNP	C	C3N-01489_TP	4105782	113235423	128958106	131	26677											
GLI2	0	.	GRCh38	chr2	120989871	120989871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacctcacccagtccaGagctacccacagcagagcca	12	3	6	20	0	1	2	1	0	0	2	2	2	2	2	7	0	4	2	7	0	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.3957G>T	p.Gln1319His	p.Q1319H	ENST00000452319	14/14	106	98	8	169	169	0	strelka-varscan	GLI2,missense_variant,p.Gln1319His,ENST00000452319,;GLI2,missense_variant,p.Gln1319His,ENST00000361492,NM_005270.4;GLI2,downstream_gene_variant,,ENST00000435313,;GLI2,3_prime_UTR_variant,,ENST00000445186,;GLI2,3_prime_UTR_variant,,ENST00000341310,;GLI2,intron_variant,,ENST00000438299,;GLI2,intron_variant,,ENST00000452692,;GLI2,downstream_gene_variant,,ENST00000437950,;	T	ENST00000452319	Transcript	missense_variant	4017/6799	3957/4761	1319/1586	Q/H	caG/caT		1		1	GLI2	HGNC	HGNC:4318	protein_coding	YES	CCDS33283.1	ENSP00000390436	P10070		UPI000053FCB4		tolerated_low_confidence(0.05)		14/14		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF73																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	120989871	120989871	G	T	1	0	0	0	0	1	0	0	0	6316	933	33	2		2	GLI2	2	120989871	Missense_Mutation	SNP	G	C3N-01489_TP	7754448	120989871	121203658	132	26678											
ZRANB3	0	.	GRCh38	chr2	135390808	135390808	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaaacacttacttcatcAgccaccatacacctggaaaa	16	9	4	12	0	2	1	2	1	0	0	2	2	2	2	3	1	4	0	3	1	5	4	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.174T>A	p.=	p.A58A	ENST00000264159	3/21	90	81	9	136	136	0	strelka-varscan	ZRANB3,synonymous_variant,p.=,ENST00000401392,NM_001286568.1;ZRANB3,synonymous_variant,p.=,ENST00000264159,NM_032143.3;ZRANB3,5_prime_UTR_variant,,ENST00000536680,NM_001286569.1;ZRANB3,intron_variant,,ENST00000452187,;ZRANB3,synonymous_variant,p.=,ENST00000403017,;ZRANB3,non_coding_transcript_exon_variant,,ENST00000492193,;	T	ENST00000264159	Transcript	synonymous_variant	291/4046	174/3240	58/1079	A	gcT/gcA		1		-1	ZRANB3	HGNC	HGNC:25249	protein_coding	YES	CCDS46419.1	ENSP00000264159	Q5FWF4		UPI0000509F0C	NM_032143.3			3/21		PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF731,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	135390808	135390808	A	T	1	0	0	0	0	0	0	0	1	18817	175	7	4		4	ZRANB3	2	135390808	Silent	SNP	A	C3N-01489_TP	14400937	135390808	106802721	133	26679											
ZEB2	0	.	GRCh38	chr2	144398839	144398839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagatttaagggagaaGgagtattactcctggagtgg	14	9	15	3	0	0	2	0	0	0	2	1	6	1	5	1	5	1	1	1	5	5	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2348C>A	p.Pro783His	p.P783H	ENST00000637267	9/11	343	308	35	547	546	1	strelka-varscan	ZEB2,missense_variant,p.Pro783His,ENST00000637267,;ZEB2,missense_variant,p.Pro808His,ENST00000636471,;ZEB2,missense_variant,p.Pro783His,ENST00000627532,NM_014795.3;ZEB2,missense_variant,p.Pro783His,ENST00000636026,;ZEB2,missense_variant,p.Pro671His,ENST00000638087,;ZEB2,missense_variant,p.Pro671His,ENST00000637304,;ZEB2,missense_variant,p.Pro671His,ENST00000638007,;ZEB2,missense_variant,p.Pro671His,ENST00000637045,;ZEB2,missense_variant,p.Pro671His,ENST00000636413,;ZEB2,missense_variant,p.Pro524His,ENST00000638128,;ZEB2,missense_variant,p.Pro783His,ENST00000409487,;ZEB2,missense_variant,p.Pro759His,ENST00000539609,NM_001171653.1;ZEB2,missense_variant,p.Pro783His,ENST00000558170,;ZEB2,missense_variant,p.Pro782His,ENST00000303660,;ZEB2,intron_variant,,ENST00000440875,;ZEB2,intron_variant,,ENST00000419938,;ZEB2,downstream_gene_variant,,ENST00000427902,;ZEB2,downstream_gene_variant,,ENST00000392861,;ZEB2,upstream_gene_variant,,ENST00000637873,;ZEB2,non_coding_transcript_exon_variant,,ENST00000636820,;ZEB2,non_coding_transcript_exon_variant,,ENST00000636179,;ZEB2,3_prime_UTR_variant,,ENST00000636732,;	T	ENST00000637267	Transcript	missense_variant	3189/9856	2348/3645	783/1214	P/H	cCt/cAt		1		-1	ZEB2	HGNC	HGNC:14881	protein_coding	YES	CCDS2186.1	ENSP00000490293			UPI00001359A2		deleterious(0)		9/11		hmmpanther:PTHR24391,hmmpanther:PTHR24391:SF11,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	81	144398839	144398839	G	T	1	0	0	0	0	1	0	0	0	18200	1000	35	2		2	ZEB2	2	144398839	Missense_Mutation	SNP	G	C3N-01489_TP	9008031	144398839	97794690	134	26680											
BAZ2B	0	.	GRCh38	chr2	159429202	159429202	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccttattttgcatacccAtattccaatggaatacgcag	14	12	5	10	1	0	0	0	0	0	0	1	1	1	1	3	1	4	2	3	1	7	7	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.2253T>A	p.Tyr751Ter	p.Y751*	ENST00000392783	11/37	68	60	8	95	95	0	strelka-varscan	BAZ2B,stop_gained,p.Tyr751Ter,ENST00000392783,NM_013450.3;BAZ2B,stop_gained,p.Tyr749Ter,ENST00000392782,NM_001289975.1;BAZ2B,stop_gained,p.Tyr457Ter,ENST00000343439,;BAZ2B,stop_gained,p.Tyr85Ter,ENST00000441143,;BAZ2B,splice_region_variant,,ENST00000472953,;	T	ENST00000392783	Transcript	stop_gained,splice_region_variant	2749/8289	2253/6507	751/2168	Y/*	taT/taA		1		-1	BAZ2B	HGNC	HGNC:963	protein_coding	YES	CCDS2209.2	ENSP00000376534	Q9UIF8		UPI0000D74C4A	NM_013450.3			11/37		Gene3D:3.30.890.10,Pfam_domain:PF01429,PROSITE_profiles:PS50982,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF154,SMART_domains:SM00391,Superfamily_domains:SSF54171																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	81	159429202	159429202	A	T	1	0	0	0	0	0	1	0	0	1477	231	8	4		4	BAZ2B	2	159429202	Nonsense_Mutation	SNP	A	C3N-01489_TP	15030363	159429202	82764327	135	26681											
SCN2A	0	.	GRCh38	chr2	165389497	165389497	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctcttatgagcccattacGaccacgttgaaacgcaaaca	13	9	7	12	3	1	2	0	2	1	0	2	3	1	2	2	0	4	2	2	0	4	3	rs780700291		C3N-01489_TP	C3N-01489_NB	G	G																c.5691G>A	p.=	p.T1897T	ENST00000636071	28/28	387	341	46	567	566	1	strelka-varscan	SCN2A,synonymous_variant,p.=,ENST00000636071,;SCN2A,synonymous_variant,p.=,ENST00000636985,;SCN2A,synonymous_variant,p.=,ENST00000637266,;SCN2A,synonymous_variant,p.=,ENST00000375437,NM_001040142.1;SCN2A,synonymous_variant,p.=,ENST00000283256,NM_021007.2;SCN2A,synonymous_variant,p.=,ENST00000375427,NM_001040143.1;SCN2A,synonymous_variant,p.=,ENST00000631182,;SCN2A,3_prime_UTR_variant,,ENST00000636662,;SCN2A,3_prime_UTR_variant,,ENST00000636384,;SCN2A,3_prime_UTR_variant,,ENST00000636769,;SCN2A,3_prime_UTR_variant,,ENST00000636135,;SCN2A,non_coding_transcript_exon_variant,,ENST00000480032,;	A	ENST00000636071	Transcript	synonymous_variant	6068/9303	5691/6018	1897/2005	T	acG/acA	rs780700291,COSM359552,COSM359553,COSM3895163,COSM3895164	1		1	SCN2A	HGNC	HGNC:10588	protein_coding	YES	CCDS33313.1	ENSP00000490107			UPI000002A663				28/28		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219											0,1,1,1,1						LOW	1	SNV			0,1,1,1,1	1										PASS		.	.												A	2	1	81	165389497	165389497	G	A	1	0	0	0	0	0	0	0	1	14185	1045	37	1		1	SCN2A	2	165389497	Silent	SNP	G	C3N-01489_TP	5960295	165389497	76804032	136	26682											
GALNT3	0	.	GRCh38	chr2	165770427	165770427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaacaaggtctctcaccagCatcaatgttttgcctgacag	12	10	7	12	0	3	1	2	1	1	0	4	1	3	1	2	1	3	2	2	1	3	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.274G>T	p.Ala92Ser	p.A92S	ENST00000392701	2/11	300	261	39	468	468	0	strelka-varscan	GALNT3,missense_variant,p.Ala92Ser,ENST00000392701,NM_004482.3;GALNT3,missense_variant,p.Ala92Ser,ENST00000412248,;GALNT3,downstream_gene_variant,,ENST00000447156,;GALNT3,downstream_gene_variant,,ENST00000414977,;GALNT3,downstream_gene_variant,,ENST00000431484,;GALNT3,downstream_gene_variant,,ENST00000422973,;	A	ENST00000392701	Transcript	missense_variant	1050/3868	274/1902	92/633	A/S	Gct/Tct		1		-1	GALNT3	HGNC	HGNC:4125	protein_coding	YES	CCDS2226.1	ENSP00000376465	Q14435		UPI000013C989	NM_004482.3	tolerated(0.87)		2/11		hmmpanther:PTHR11675:SF33,hmmpanther:PTHR11675																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	165770427	165770427	C	A	1	0	0	0	0	1	0	0	0	6085	710	25	2		2	GALNT3	2	165770427	Missense_Mutation	SNP	C	C3N-01489_TP	380930	165770427	76423102	137	26683											
TTC21B	0	.	GRCh38	chr2	165941165	165941165	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacctgaataattctggCgcatctcaaggcattgtgcc	9	10	11	11	1	2	1	1	1	2	0	3	1	2	1	2	3	1	3	2	3	3	3	rs778525866,rs781486283		C3N-01489_TP	C3N-01489_NB	C	C																c.572G>T	p.Arg191Leu	p.R191L	ENST00000243344	6/29	358	326	32	558	556	2	strelka-varscan	TTC21B,missense_variant,p.Arg191Leu,ENST00000243344,NM_024753.4;TTC21B-AS1,intron_variant,,ENST00000440322,;TTC21B-AS1,intron_variant,,ENST00000443032,;TTC21B,non_coding_transcript_exon_variant,,ENST00000464374,;TTC21B-AS1,intron_variant,,ENST00000446624,;	A	ENST00000243344	Transcript	missense_variant	710/5482	572/3951	191/1316	R/L	cGc/cTc	rs778525866,rs781486283,COSM268204	1		-1	TTC21B	HGNC	HGNC:25660	protein_coding	YES	CCDS33315.1	ENSP00000243344	Q7Z4L5		UPI000020900A	NM_024753.4	tolerated(0.08)		6/29		hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF1,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF81901,Superfamily_domains:SSF48452											0,0,1						MODERATE	1	SNV	1		0,0,1	1										PASS		.	.												A	3	1	81	165941165	165941165	C	A	1	0	0	0	0	1	0	0	0	17196	768	27	1		1	TTC21B	2	165941165	Missense_Mutation	SNP	C	C3N-01489_TP	170738	165941165	76252364	138	26684											
STK39	0	.	GRCh38	chr2	168075183	168075183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactccactcccagtcccCgtcttcggttttatgaaggt	6	13	8	14	2	2	1	1	1	1	0	6	1	5	1	4	2	0	1	4	2	2	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1138G>T	p.Gly380Trp	p.G380W	ENST00000355999	11/18	255	228	27	379	377	2	strelka-varscan-mutect	STK39,missense_variant,p.Gly380Trp,ENST00000355999,NM_013233.2;STK39,non_coding_transcript_exon_variant,,ENST00000487143,;	A	ENST00000355999	Transcript	missense_variant	1844/3820	1138/1638	380/545	G/W	Ggg/Tgg		1		-1	STK39	HGNC	HGNC:17717	protein_coding	YES	CCDS42770.1	ENSP00000348278	Q9UEW8		UPI000013D46D	NM_013233.2	deleterious(0.01)		11/18		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF330																	MODERATE	1	SNV	1			1										PASS		rs1362104547	.												A	3	1	81	168075183	168075183	C	A	1	0	0	0	0	1	0	0	0	15682	652	23	1		1	STK39	2	168075183	Missense_Mutation	SNP	C	C3N-01489_TP	2134018	168075183	74118346	139	26685											
COL3A1	0	.	GRCh38	chr2	188999855	188999855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgacagggtgaaccaggcgGtccaggtgctgatggtgtcc	7	9	16	9	1	0	3	0	3	0	0	2	3	2	3	3	5	2	1	3	5	1	1			C3N-01489_TP	C3N-01489_NB	G	G																c.2243G>T	p.Gly748Val	p.G748V	ENST00000304636	32/51	295	268	27	388	387	1	strelka-varscan-mutect	COL3A1,missense_variant,p.Gly748Val,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Gly748Val,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000637672,;COL3A1,upstream_gene_variant,,ENST00000467886,;	T	ENST00000304636	Transcript	missense_variant	2413/5543	2243/4401	748/1466	G/V	gGt/gTt	COSM3575394,COSM3575395	1		1	COL3A1	HGNC	HGNC:2201	protein_coding	YES	CCDS2297.1	ENSP00000304408	P02461		UPI0000456EBA	NM_000090.3	tolerated(0.61)		32/51		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	81	188999855	188999855	G	T	1	0	0	0	0	1	0	0	0	3477	1261	44	2		2	COL3A1	2	188999855	Missense_Mutation	SNP	G	C3N-01489_TP	20924672	188999855	53193674	140	26686											
MSTN	0	.	GRCh38	chr2	190057624	190057624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgtctgttaccttgacCtctaaaaacggattctgttt	8	16	9	8	1	3	1	0	1	3	0	3	2	3	2	2	2	2	2	2	2	4	5	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.762G>T	p.Glu254Asp	p.E254D	ENST00000260950	3/3	180	159	21	319	319	0	strelka-varscan-mutect	MSTN,missense_variant,p.Glu254Asp,ENST00000260950,NM_005259.2;C2orf88,intron_variant,,ENST00000478197,;C2orf88,intron_variant,,ENST00000495546,;	A	ENST00000260950	Transcript	missense_variant	895/2822	762/1128	254/375	E/D	gaG/gaT		1		-1	MSTN	HGNC	HGNC:4223	protein_coding	YES	CCDS2303.1	ENSP00000260950	O14793	Q53S46	UPI0000037254	NM_005259.2	deleterious(0.01)		3/3		hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF150																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	190057624	190057624	C	A	1	0	0	0	0	1	0	0	0	9877	680	24	2		2	MSTN	2	190057624	Missense_Mutation	SNP	C	C3N-01489_TP	1057769	190057624	52135905	141	26687											
SATB2	0	.	GRCh38	chr2	199368671	199368671	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggttgctgacacattggCataatatgtgctatttacaa	11	15	8	7	0	0	1	0	1	0	0	0	1	0	1	0	2	3	4	0	2	5	8	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.634G>T	p.Ala212Ser	p.A212S	ENST00000417098	6/11	276	254	22	393	393	0	strelka-varscan-mutect	SATB2,missense_variant,p.Ala153Ser,ENST00000443023,;SATB2,missense_variant,p.Ala212Ser,ENST00000417098,NM_001172509.1;SATB2,missense_variant,p.Ala212Ser,ENST00000260926,NM_001172517.1;SATB2,missense_variant,p.Ala212Ser,ENST00000457245,NM_015265.3;SATB2,intron_variant,,ENST00000614512,;SATB2,intron_variant,,ENST00000428695,;SATB2,non_coding_transcript_exon_variant,,ENST00000484124,;SATB2,non_coding_transcript_exon_variant,,ENST00000483346,;	A	ENST00000417098	Transcript	missense_variant	1451/5730	634/2202	212/733	A/S	Gcc/Tcc		1		-1	SATB2	HGNC	HGNC:21637	protein_coding	YES	CCDS2327.1	ENSP00000401112	Q9UPW6	A0A024R3U6	UPI00000336B1	NM_001172509.1	deleterious(0.04)		6/11		hmmpanther:PTHR15116:SF15,hmmpanther:PTHR15116,Pfam_domain:PF16557																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	81	199368671	199368671	C	A	1	0	0	0	0	1	0	0	0	14115	710	25	2		2	SATB2	2	199368671	Missense_Mutation	SNP	C	C3N-01489_TP	9311047	199368671	42824858	142	26688											
AOX1	0	.	GRCh38	chr2	200641163	200641163	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattacagcaatgcaggcgcCtccttggatgaatcattatt	11	12	8	10	1	1	1	1	1	0	0	2	2	2	2	2	2	3	2	2	2	4	4	rs768503886		C3N-01489_TP	C3N-01489_NB	C	C																c.2634C>A	p.=	p.A878A	ENST00000374700	24/35	104	98	6	104	104	0	strelka-mutect	AOX1,synonymous_variant,p.=,ENST00000374700,NM_001159.3;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;AOX1,non_coding_transcript_exon_variant,,ENST00000472553,;	A	ENST00000374700	Transcript	synonymous_variant	2875/5074	2634/4017	878/1338	A	gcC/gcA	rs768503886	1		1	AOX1	HGNC	HGNC:553	protein_coding	YES	CCDS33360.1	ENSP00000363832	Q06278		UPI0000071863	NM_001159.3			24/35		hmmpanther:PTHR11908:SF86,hmmpanther:PTHR11908,Pfam_domain:PF02738,Gene3D:3.30.365.10,PIRSF_domain:PIRSF000127,TIGRFAM_domain:TIGR02969,Superfamily_domains:SSF56003																	LOW	1	SNV	1			1										PASS		rs768503886	.												A	2	1	81	200641163	200641163	C	A	1	0	0	0	0	0	0	0	1	839	668	24	2		2	AOX1	2	200641163	Silent	SNP	C	C3N-01489_TP	1272492	200641163	41552366	143	26689											
CASP8	0	.	GRCh38	chr2	201258300	201258300	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcctgggagcctttccCacccccttccctgctgagca	4	12	7	18	0	1	1	0	1	1	0	4	2	4	2	6	1	3	2	6	1	0	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.69C>T	p.=	p.P23P	ENST00000358485	1/9	408	358	50	581	581	0	strelka-varscan-mutect	CASP8,synonymous_variant,p.=,ENST00000358485,NM_001080125.1;CASP8,intron_variant,,ENST00000264274,;CASP8,intron_variant,,ENST00000264275,NM_001228.4;CASP8,intron_variant,,ENST00000392263,NM_001080124.1;CASP8,intron_variant,,ENST00000432109,NM_033355.3;CASP8,intron_variant,,ENST00000392266,;CASP8,intron_variant,,ENST00000392258,NM_033358.3;CASP8,intron_variant,,ENST00000447616,;CASP8,intron_variant,,ENST00000450491,;CASP8,intron_variant,,ENST00000413726,;CASP8,intron_variant,,ENST00000440732,;CASP8,upstream_gene_variant,,ENST00000323492,NM_033356.3;CASP8,upstream_gene_variant,,ENST00000429881,;CASP8,intron_variant,,ENST00000490412,;CASP8,synonymous_variant,p.=,ENST00000437283,;CASP8,intron_variant,,ENST00000471383,;CASP8,upstream_gene_variant,,ENST00000339403,;	T	ENST00000358485	Transcript	synonymous_variant	265/2930	69/1617	23/538	P	ccC/ccT		1		1	CASP8	HGNC	HGNC:1509	protein_coding	YES	CCDS42798.1	ENSP00000351273	Q14790		UPI0000456ECD	NM_001080125.1			1/9																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	201258300	201258300	C	T	1	0	0	0	0	0	0	0	1	2377	581	21	3		3	CASP8	2	201258300	Silent	SNP	C	C3N-01489_TP	617137	201258300	40935229	144	26690											
KIAA2012	0	.	GRCh38	chr2	202099760	202099760	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcccacattacattctgtGgaggcgccttccctaatagg	10	11	8	12	1	1	0	0	0	1	0	3	1	3	1	3	3	1	0	3	3	4	5	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.976G>T	p.Gly326Ter	p.G326*	ENST00000498697	6/24	132	116	16	201	201	0	strelka-mutect	KIAA2012,stop_gained,p.Gly326Ter,ENST00000498697,;KIAA2012,stop_gained,p.Gly326Ter,ENST00000541917,NM_001277372.1;KIAA2012,stop_gained,p.Gly382Ter,ENST00000459709,;KIAA2012,non_coding_transcript_exon_variant,,ENST00000409515,;	T	ENST00000498697	Transcript	stop_gained	976/3772	976/3546	326/1181	G/*	Gga/Tga		1		1	KIAA2012	HGNC	HGNC:51250	protein_coding	YES		ENSP00000419834		H7C5G6	UPI0005D0279F				6/24		hmmpanther:PTHR21937,hmmpanther:PTHR21937:SF3																	HIGH		SNV	5			1										PASS		.	.												T	4	4	81	202099760	202099760	G	T	1	0	0	0	0	0	1	0	0	8131	1349	47	2		2	KIAA2012	2	202099760	Nonsense_Mutation	SNP	G	C3N-01489_TP	841460	202099760	40093769	145	26691											
ZDBF2	0	.	GRCh38	chr2	206305659	206305659	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtcagcatctgatcaGccccaagagactgcacaaga	13	7	8	13	0	4	3	3	1	1	2	4	4	4	3	2	0	3	2	2	0	2	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1131G>C	p.Gln377His	p.Q377H	ENST00000374423	5/5	96	88	8	177	177	0	strelka-varscan-mutect	ZDBF2,missense_variant,p.Gln377His,ENST00000374423,NM_020923.2;ZDBF2,missense_variant,p.Gln375His,ENST00000611847,NM_001285549.1;	C	ENST00000374423	Transcript	missense_variant	1517/10286	1131/7065	377/2354	Q/H	caG/caC		1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2	tolerated(0.3)		5/5		hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	206305659	206305659	G	C	1	0	0	0	0	1	0	0	0	18174	962	34	4		4	ZDBF2	2	206305659	Missense_Mutation	SNP	G	C3N-01489_TP	4205899	206305659	35887870	146	26692											
CRYGA	0	.	GRCh38	chr2	208163293	208163293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggcgcaggaagtactGgtggccctggtaattgggac	7	8	16	10	2	0	0	0	0	0	0	1	2	0	2	2	6	1	3	2	6	3	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.163C>A	p.Gln55Lys	p.Q55K	ENST00000304502	2/3	277	243	34	422	422	0	strelka-varscan-mutect	CRYGA,missense_variant,p.Gln55Lys,ENST00000304502,NM_014617.3;C2orf80,downstream_gene_variant,,ENST00000341287,NM_001099334.2;C2orf80,downstream_gene_variant,,ENST00000451346,;C2orf80,downstream_gene_variant,,ENST00000451342,;C2orf80,downstream_gene_variant,,ENST00000428015,;C2orf80,downstream_gene_variant,,ENST00000453017,;	T	ENST00000304502	Transcript	missense_variant	183/609	163/525	55/174	Q/K	Cag/Aag		1		-1	CRYGA	HGNC	HGNC:2408	protein_coding	YES	CCDS33367.1	ENSP00000302105	P11844	A0A0S2A4T3	UPI000049DF32	NM_014617.3	deleterious(0)		2/3		PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF28,Gene3D:2.60.20.10,Pfam_domain:PF00030,SMART_domains:SM00247,Superfamily_domains:SSF49695,Prints_domain:PR01367																	MODERATE	1	SNV	1			1										PASS		rs902028178	.												T	3	4	81	208163293	208163293	G	T	1	0	0	0	0	1	0	0	0	3716	1357	47	2		2	CRYGA	2	208163293	Missense_Mutation	SNP	G	C3N-01489_TP	1857634	208163293	34030236	147	26693											
PIKFYVE	0	.	GRCh38	chr2	208285811	208285811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctattggggaagacttGaatgctctttcagattctgc	10	15	9	7	0	4	3	1	1	3	2	4	4	4	4	0	2	2	1	0	2	4	6	rs777357869		C3N-01489_TP	C3N-01489_NB	G	G																c.699G>T	p.Leu233Phe	p.L233F	ENST00000264380	6/42	338	316	22	443	442	1	strelka-varscan-mutect	PIKFYVE,missense_variant,p.Leu233Phe,ENST00000264380,NM_015040.3;PIKFYVE,missense_variant,p.Leu233Phe,ENST00000452564,;PIKFYVE,missense_variant,p.Leu136Phe,ENST00000392202,NM_152671.3;PIKFYVE,missense_variant,p.Leu233Phe,ENST00000407449,NM_001178000.1;PIKFYVE,missense_variant,p.Leu147Phe,ENST00000308862,;PIKFYVE,downstream_gene_variant,,ENST00000422495,;PIKFYVE,3_prime_UTR_variant,,ENST00000443896,;	T	ENST00000264380	Transcript	missense_variant	857/9901	699/6297	233/2098	L/F	ttG/ttT	rs777357869	1		1	PIKFYVE	HGNC	HGNC:23785	protein_coding	YES	CCDS2382.1	ENSP00000264380	Q9Y2I7		UPI0000366FD6	NM_015040.3	deleterious(0.01)		6/42		hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF57																	MODERATE	1	SNV	1			1										PASS		rs777357869	.												T	3	4	81	208285811	208285811	G	T	1	0	0	0	0	1	0	0	0	12019	1281	45	2		2	PIKFYVE	2	208285811	Missense_Mutation	SNP	G	C3N-01489_TP	122518	208285811	33907718	148	26694											
CPS1	0	.	GRCh38	chr2	210612229	210612229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaacaaagaatggccatCtaatttagatcttagaaaag	19	10	7	5	0	2	4	0	1	2	3	2	4	2	4	1	1	1	0	1	1	9	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2522C>A	p.Ser841Tyr	p.S841Y	ENST00000430249	21/39	384	349	35	518	518	0	strelka-varscan-mutect	CPS1,missense_variant,p.Ser835Tyr,ENST00000233072,NM_001875.4;CPS1,missense_variant,p.Ser841Tyr,ENST00000430249,NM_001122633.2;CPS1,missense_variant,p.Ser384Tyr,ENST00000451903,NM_001122634.3;	A	ENST00000430249	Transcript	missense_variant	2577/5698	2522/4521	841/1506	S/Y	tCt/tAt		1		1	CPS1	HGNC	HGNC:2323	protein_coding	YES	CCDS46505.1	ENSP00000402608	P31327		UPI000166C19F	NM_001122633.2	deleterious(0.03)		21/39		hmmpanther:PTHR11405:SF38,hmmpanther:PTHR11405,TIGRFAM_domain:TIGR01369,Gene3D:1.10.1030.10,Superfamily_domains:0034967																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	210612229	210612229	C	A	1	0	0	0	0	1	0	0	0	3619	913	32	2		2	CPS1	2	210612229	Missense_Mutation	SNP	C	C3N-01489_TP	2326418	210612229	31581300	149	26695											
TNS1	0	.	GRCh38	chr2	217836088	217836088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacacactggacaggggagCgaaccccagggctacgaggg	12	2	16	11	2	0	1	0	0	0	1	0	5	0	3	2	5	3	1	2	5	2	1	rs777917136		C3N-01489_TP	C3N-01489_NB	C	C																c.2756G>T	p.Arg919Leu	p.R919L	ENST00000171887	18/33	123	109	14	196	195	1	strelka-varscan-mutect	TNS1,missense_variant,p.Arg919Leu,ENST00000171887,NM_022648.4;TNS1,missense_variant,p.Arg919Leu,ENST00000611415,;TNS1,missense_variant,p.Arg570Leu,ENST00000615025,;TNS1,missense_variant,p.Arg919Leu,ENST00000419504,;TNS1,missense_variant,p.Arg919Leu,ENST00000430930,NM_001308023.1;TNS1,missense_variant,p.Arg51Leu,ENST00000446688,;	A	ENST00000171887	Transcript	missense_variant	3209/10331	2756/5208	919/1735	R/L	cGc/cTc	rs777917136,COSM4583169	1		-1	TNS1	HGNC	HGNC:11973	protein_coding	YES	CCDS2407.1	ENSP00000171887	Q9HBL0		UPI0000456EEB	NM_022648.4	tolerated(0.06)		18/33													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs777917136	.												A	3	1	81	217836088	217836088	C	A	1	0	0	0	0	1	0	0	0	16816	768	27	1		1	TNS1	2	217836088	Missense_Mutation	SNP	C	C3N-01489_TP	7223859	217836088	24357441	150	26696											
CFAP65	0	.	GRCh38	chr2	219010022	219010022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgttgaggaagagcaggcGgctgcacttgctctgcacag	8	9	15	9	1	1	2	0	1	1	1	1	3	1	3	0	3	4	7	0	3	1	3	rs760792718		C3N-01489_TP	C3N-01489_NB	G	G																c.4372C>A	p.Arg1458Ser	p.R1458S	ENST00000341552	27/35	82	73	9	143	143	0	strelka-varscan-mutect	CFAP65,missense_variant,p.Arg1458Ser,ENST00000341552,NM_194302.3;CFAP65,missense_variant,p.Arg1458Ser,ENST00000453220,;AC097468.4,non_coding_transcript_exon_variant,,ENST00000441450,;	T	ENST00000341552	Transcript	missense_variant	4456/5953	4372/5778	1458/1925	R/S	Cgc/Agc	rs760792718	1		-1	CFAP65	HGNC	HGNC:25325	protein_coding	YES	CCDS2430.2	ENSP00000340776	Q6ZU64		UPI0000609097	NM_194302.3	deleterious(0)		27/35		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF223																	MODERATE		SNV	5			1										PASS		rs760792718	.												T	3	4	81	219010022	219010022	G	T	1	0	0	0	0	1	0	0	0	3029	1116	39	1		1	CFAP65	2	219010022	Missense_Mutation	SNP	G	C3N-01489_TP	1173934	219010022	23183507	151	26697											
KCNE4	0	.	GRCh38	chr2	223052867	223052867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaacagcacgcaccccGgcaccgccgcctccagcagc	8	3	9	21	4	1	1	0	1	1	0	2	1	2	1	6	1	4	4	6	1	1	0	rs777074947		C3N-01489_TP	C3N-01489_NB	G	G																c.190G>T	p.Gly64Cys	p.G64C	ENST00000281830	2/2	250	229	21	365	364	1	strelka-varscan-mutect	KCNE4,missense_variant,p.Gly64Cys,ENST00000281830,NM_080671.3;KCNE4,intron_variant,,ENST00000488477,;	T	ENST00000281830	Transcript	missense_variant	521/3291	190/666	64/221	G/C	Ggc/Tgc	rs777074947	1		1	KCNE4	HGNC	HGNC:6244	protein_coding	YES	CCDS2456.2	ENSP00000281830	Q8WWG9		UPI00002096C1	NM_080671.3	tolerated(0.12)		2/2		hmmpanther:PTHR15282,hmmpanther:PTHR15282:SF9																	MODERATE	1	SNV	1			1										PASS		rs777074947	.												T	3	4	81	223052867	223052867	G	T	1	0	0	0	0	1	0	0	0	7941	1116	39	1		1	KCNE4	2	223052867	Missense_Mutation	SNP	G	C3N-01489_TP	4042845	223052867	19140662	152	26698											
DOCK10	0	.	GRCh38	chr2	224775056	224775056	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttccttttcctcaaagaaCggcgtcacataggtcacctg	10	12	7	12	2	3	1	3	0	0	1	5	1	5	1	3	2	1	0	3	2	3	4	rs367785024		C3N-01489_TP	C3N-01489_NB	C	C																c.5862G>T	p.=	p.P1954P	ENST00000258390	52/56	309	277	32	462	462	0	strelka-varscan-mutect	DOCK10,synonymous_variant,p.=,ENST00000409592,NM_001290263.1;DOCK10,synonymous_variant,p.=,ENST00000258390,NM_014689.2;DOCK10,synonymous_variant,p.=,ENST00000535663,;	A	ENST00000258390	Transcript	synonymous_variant	5930/7260	5862/6561	1954/2186	P	ccG/ccT	rs367785024	1		-1	DOCK10	HGNC	HGNC:23479	protein_coding	YES	CCDS46528.1	ENSP00000258390	Q96BY6		UPI000021D2A7	NM_014689.2			52/56		Pfam_domain:PF06920,PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF71																	LOW	1	SNV	5			1										PASS		rs367785024	.												A	2	1	81	224775056	224775056	C	A	1	0	0	0	0	0	0	0	1	4500	523	19	1		1	DOCK10	2	224775056	Silent	SNP	C	C3N-01489_TP	1722189	224775056	17418473	153	26699											
DOCK10	0	.	GRCh38	chr2	224796991	224796991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaccggacaattgacttCtgcttgttaaattcaaaatt	12	14	8	7	1	2	1	1	1	1	0	2	3	2	3	1	2	1	2	1	2	5	6	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.4800G>T	p.Gln1600His	p.Q1600H	ENST00000258390	43/56	64	60	4	111	111	0	varscan-mutect	DOCK10,missense_variant,p.Gln1594His,ENST00000409592,NM_001290263.1;DOCK10,missense_variant,p.Gln1600His,ENST00000258390,NM_014689.2;DOCK10,downstream_gene_variant,,ENST00000422684,;DOCK10,upstream_gene_variant,,ENST00000492251,;	A	ENST00000258390	Transcript	missense_variant	4868/7260	4800/6561	1600/2186	Q/H	caG/caT		1		-1	DOCK10	HGNC	HGNC:23479	protein_coding	YES	CCDS46528.1	ENSP00000258390	Q96BY6		UPI000021D2A7	NM_014689.2	deleterious(0.03)		43/56		Pfam_domain:PF06920,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF71																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	81	224796991	224796991	C	A	1	0	0	0	0	1	0	0	0	4500	912	32	2		2	DOCK10	2	224796991	Missense_Mutation	SNP	C	C3N-01489_TP	21935	224796991	17396538	154	26700											
NYAP2	0	.	GRCh38	chr2	225651482	225651482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcgtcgacgtcaggtgtgCctcctccatcagtcactccc	5	10	9	17	3	3	0	3	0	0	0	7	1	6	0	4	1	2	0	4	1	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1879C>A	p.Pro627Thr	p.P627T	ENST00000636099	7/7	272	250	22	405	405	0	strelka-varscan-mutect	NYAP2,missense_variant,p.Pro627Thr,ENST00000636099,;NYAP2,missense_variant,p.Pro627Thr,ENST00000272907,NM_020864.1;	A	ENST00000636099	Transcript	missense_variant	2925/5461	1879/1962	627/653	P/T	Cct/Act		1		1	NYAP2	HGNC	HGNC:29291	protein_coding	YES	CCDS46529.1	ENSP00000490942			UPI00001C1DB6		deleterious_low_confidence(0)		7/7		Low_complexity_(Seg):seg,hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF1,Pfam_domain:PF15452																	MODERATE	1	SNV				1										PASS		rs1216355535	.												A	3	1	81	225651482	225651482	C	A	1	0	0	0	0	1	0	0	0	10873	739	26	2		2	NYAP2	2	225651482	Missense_Mutation	SNP	C	C3N-01489_TP	854491	225651482	16542047	155	26701											
SP140	0	.	GRCh38	chr2	230248006	230248006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggaaggcaggaacagtcCcagaaaaagaaaccaagaca	20	1	12	8	0	0	3	0	0	0	3	1	6	1	6	2	4	2	1	2	4	6	0	rs756153976		C3N-01489_TP	C3N-01489_NB	C	C																c.833C>A	p.Pro278His	p.P278H	ENST00000392045	8/27	183	172	11	292	292	0	strelka-varscan-mutect	SP140,missense_variant,p.Pro278His,ENST00000392045,NM_007237.4;SP140,missense_variant,p.Pro278His,ENST00000420434,NM_001278451.1;SP140,missense_variant,p.Pro252His,ENST00000343805,NM_001278452.1;SP140,intron_variant,,ENST00000417495,NM_001278453.1;	A	ENST00000392045	Transcript	missense_variant	947/3246	833/2604	278/867	P/H	cCc/cAc	rs756153976	1		1	SP140	HGNC	HGNC:17133	protein_coding	YES	CCDS42831.1	ENSP00000375899	Q13342		UPI0000209746	NM_007237.4	tolerated(0.32)		8/27																			MODERATE	1	SNV	2			1										PASS		rs756153976	.												A	3	1	81	230248006	230248006	C	A	1	0	0	0	0	1	0	0	0	15288	623	22	2		2	SP140	2	230248006	Missense_Mutation	SNP	C	C3N-01489_TP	4596524	230248006	11945523	156	26702											
SP140	0	.	GRCh38	chr2	230310807	230310807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagccaacagtgttgtcagGaatctgaggtcctggagagg	11	8	15	7	0	2	2	1	1	1	1	3	5	3	3	2	4	2	1	2	4	3	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2239G>A	p.Glu747Lys	p.E747K	ENST00000392045	24/27	43	37	6	82	82	0	varscan-mutect	SP140,missense_variant,p.Glu747Lys,ENST00000392045,NM_007237.4;SP140,missense_variant,p.Glu720Lys,ENST00000420434,NM_001278451.1;SP140,missense_variant,p.Glu687Lys,ENST00000343805,NM_001278452.1;SP140,missense_variant,p.Glu633Lys,ENST00000417495,NM_001278453.1;SP140,non_coding_transcript_exon_variant,,ENST00000479539,;SP140,downstream_gene_variant,,ENST00000486750,;	A	ENST00000392045	Transcript	missense_variant	2353/3246	2239/2604	747/867	E/K	Gaa/Aaa		1		1	SP140	HGNC	HGNC:17133	protein_coding	YES	CCDS42831.1	ENSP00000375899	Q13342		UPI0000209746	NM_007237.4	deleterious(0)		24/27		hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF45																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	81	230310807	230310807	G	A	1	0	0	0	0	1	0	0	0	15288	1175	41	3		3	SP140	2	230310807	Missense_Mutation	SNP	G	C3N-01489_TP	62801	230310807	11882722	157	26703											
NEU4	0	.	GRCh38	chr2	241816361	241816361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcgctcagcactgacgaGggcacctccttcctgcccgc	6	6	11	18	3	1	1	1	1	0	0	3	2	3	1	4	2	2	3	4	2	0	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.807G>T	p.Glu269Asp	p.E269D	ENST00000325935	4/4	188	177	11	266	266	0	strelka-varscan-mutect	NEU4,missense_variant,p.Glu256Asp,ENST00000391969,NM_001167602.2;NEU4,missense_variant,p.Glu268Asp,ENST00000404257,NM_080741.3;NEU4,missense_variant,p.Glu269Asp,ENST00000325935,NM_001167599.2;NEU4,missense_variant,p.Glu256Asp,ENST00000407683,NM_001167601.2,NM_001167600.2;NEU4,missense_variant,p.Glu256Asp,ENST00000405370,;NEU4,missense_variant,p.Arg171Met,ENST00000415936,;NEU4,missense_variant,p.Glu256Asp,ENST00000420288,;NEU4,missense_variant,p.Arg183Met,ENST00000426032,;NEU4,downstream_gene_variant,,ENST00000423583,;NEU4,downstream_gene_variant,,ENST00000428592,;NEU4,downstream_gene_variant,,ENST00000435894,;NEU4,downstream_gene_variant,,ENST00000435934,;AC114730.3,upstream_gene_variant,,ENST00000420272,;NEU4,non_coding_transcript_exon_variant,,ENST00000618597,;NEU4,intron_variant,,ENST00000435855,;NEU4,downstream_gene_variant,,ENST00000488997,;NEU4,downstream_gene_variant,,ENST00000476542,;NEU4,downstream_gene_variant,,ENST00000494678,;	T	ENST00000325935	Transcript	missense_variant	1236/2288	807/1494	269/497	E/D	gaG/gaT		1		1	NEU4	HGNC	HGNC:21328	protein_coding	YES	CCDS54441.1	ENSP00000320318	Q8WWR8		UPI0000EE378E	NM_001167599.2	tolerated(1)		4/4		Gene3D:2.120.10.10,Pfam_domain:PF13088,hmmpanther:PTHR10628,hmmpanther:PTHR10628:SF22,Superfamily_domains:SSF50939																	MODERATE	1	SNV	1			1										PASS		rs1352716991	.												T	3	4	81	241816361	241816361	G	T	1	0	0	0	0	1	0	0	0	10379	991	35	2		2	NEU4	2	241816361	Missense_Mutation	SNP	G	C3N-01489_TP	11505554	241816361	377168	158	26704											
CHL1	0	.	GRCh38	chr3	340840	340840	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgaccctcttgaagtggaGgagggagatccaattgtcct	10	11	12	8	0	1	3	0	2	1	1	3	6	3	5	3	3	0	0	3	3	2	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.432G>T	p.Glu144Asp	p.E144D	ENST00000256509	6/28	212	196	16	340	340	0	strelka-varscan-mutect	CHL1,missense_variant,p.Glu144Asp,ENST00000256509,NM_006614.3;CHL1,missense_variant,p.Glu144Asp,ENST00000620033,NM_001253388.1;CHL1,missense_variant,p.Glu144Asp,ENST00000397491,NM_001253387.1;CHL1,missense_variant,p.Glu144Asp,ENST00000435603,;CHL1,3_prime_UTR_variant,,ENST00000453040,;	T	ENST00000256509	Transcript	missense_variant	1074/8023	432/3675	144/1224	E/D	gaG/gaT		1		1	CHL1	HGNC	HGNC:1939	protein_coding	YES	CCDS2556.1	ENSP00000256509	O00533		UPI000013CF0F	NM_006614.3	tolerated(0.16)		6/28		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF653,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	340840	340840	G	T	1	0	0	0	0	1	0	0	0	3108	991	35	2		2	CHL1	3	340840	Missense_Mutation	SNP	G	C3N-01489_TP		340840	197954719	159	26705											
ITPR1	0	.	GRCh38	chr3	4673280	4673280	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacctcagggcgtccttctgCcgcctcatgcttcacatgca	6	10	9	16	2	4	0	3	0	1	0	5	1	5	0	4	1	3	2	4	1	0	2	rs770093543		C3N-01489_TP	C3N-01489_NB	C	C																c.2304C>A	p.Cys768Ter	p.C768*	ENST00000302640	20/61	184	170	14	242	242	0	strelka-varscan-mutect	ITPR1,stop_gained,p.Cys783Ter,ENST00000354582,;ITPR1,stop_gained,p.Cys768Ter,ENST00000302640,NM_001168272.1;ITPR1,stop_gained,p.Cys783Ter,ENST00000357086,NM_001099952.2;ITPR1,stop_gained,p.Cys768Ter,ENST00000456211,NM_002222.5;ITPR1,stop_gained,p.Cys768Ter,ENST00000443694,;ITPR1,intron_variant,,ENST00000544951,;ITPR1,downstream_gene_variant,,ENST00000477577,;	A	ENST00000302640	Transcript	stop_gained	2654/10197	2304/8232	768/2743	C/*	tgC/tgA	rs770093543	1		1	ITPR1	HGNC	HGNC:6180	protein_coding	YES	CCDS54551.1	ENSP00000306253	Q14643		UPI0000E5A461	NM_001168272.1			20/61		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF52,Prints_domain:PR00779																	HIGH	1	SNV	5			1										PASS		rs770093543	.												A	4	1	81	4673280	4673280	C	A	1	0	0	0	0	0	1	0	0	7826	747	26	2		2	ITPR1	3	4673280	Nonsense_Mutation	SNP	C	C3N-01489_TP	4332440	4673280	193622279	160	26706											
SLC6A1	0	.	GRCh38	chr3	11029284	11029284	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccaggctcctccgcaacCgcagagagctcttcattgct	8	8	8	17	2	2	1	1	0	1	1	4	2	4	1	5	1	3	5	5	1	1	2			C3N-01489_TP	C3N-01489_NB	C	C																c.1255C>G	p.Arg419Gly	p.R419G	ENST00000287766	12/16	181	169	12	304	304	0	strelka-varscan-mutect	SLC6A1,missense_variant,p.Arg419Gly,ENST00000287766,NM_003042.3;SLC6A1,upstream_gene_variant,,ENST00000495636,;	G	ENST00000287766	Transcript	missense_variant	1676/4502	1255/1800	419/599	R/G	Cgc/Ggc	COSM4112136	1		1	SLC6A1	HGNC	HGNC:11042	protein_coding	YES	CCDS2603.1	ENSP00000287766	P30531	A0A024R2G0	UPI000013DECF	NM_003042.3	deleterious(0.02)		12/16		PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF138,Pfam_domain:PF00209,Superfamily_domains:0053687											1						MODERATE	1	SNV	1		1	1										PASS		rs910130675	.												G	3	3	81	11029284	11029284	C	G	1	0	0	0	0	1	0	0	0	14956	652	23	4		4	SLC6A1	3	11029284	Missense_Mutation	SNP	C	C3N-01489_TP	6356004	11029284	187266275	161	26707											
XPC	0	.	GRCh38	chr3	14148890	14148890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggtcattttcttccCgcagctggggctcagcaagt	6	10	12	13	1	3	0	2	0	1	0	4	0	4	0	2	4	2	4	2	4	1	3	rs567932695		C3N-01489_TP	C3N-01489_NB	C	C																c.2174G>T	p.Arg725Leu	p.R725L	ENST00000285021	12/16	193	169	24	274	274	0	strelka-varscan-mutect	XPC,missense_variant,p.Arg725Leu,ENST00000285021,NM_004628.4;AC093495.4,intron_variant,,ENST00000628785,;AC093495.4,intron_variant,,ENST00000630173,;AC093495.4,intron_variant,,ENST00000629301,;AC093495.4,intron_variant,,ENST00000626655,;AC093495.4,intron_variant,,ENST00000630772,;AC093495.4,intron_variant,,ENST00000629796,;AC093495.4,intron_variant,,ENST00000628760,;AC093495.4,intron_variant,,ENST00000627116,;AC093495.4,intron_variant,,ENST00000627997,;AC093495.4,intron_variant,,ENST00000628978,;AC093495.4,downstream_gene_variant,,ENST00000420253,;AC093495.4,upstream_gene_variant,,ENST00000628791,;AC093495.4,downstream_gene_variant,,ENST00000428681,;AC093495.4,downstream_gene_variant,,ENST00000628412,;AC093495.4,downstream_gene_variant,,ENST00000629708,;AC093495.4,downstream_gene_variant,,ENST00000628446,;AC093495.4,upstream_gene_variant,,ENST00000627385,;RP11-434D12.1,downstream_gene_variant,,ENST00000626721,;RP11-434D12.1,downstream_gene_variant,,ENST00000601399,;XPC,3_prime_UTR_variant,,ENST00000476581,;XPC,non_coding_transcript_exon_variant,,ENST00000427795,;RP11-434D12.1,downstream_gene_variant,,ENST00000608606,;	A	ENST00000285021	Transcript	missense_variant	2389/3832	2174/2823	725/940	R/L	cGg/cTg	rs567932695	1		-1	XPC	HGNC	HGNC:12816	protein_coding	YES	CCDS46763.1	ENSP00000285021	Q01831	X5DRB1	UPI000196375E	NM_004628.4	deleterious(0.01)		12/16		hmmpanther:PTHR12135:SF0,hmmpanther:PTHR12135,Pfam_domain:PF10404,TIGRFAM_domain:TIGR00605,SMART_domains:SM01031																	MODERATE	1	SNV	1			1										PASS		rs567932695	.												A	3	1	81	14148890	14148890	C	A	1	0	0	0	0	1	0	0	0	18000	652	23	1		1	XPC	3	14148890	Missense_Mutation	SNP	C	C3N-01489_TP	3119606	14148890	184146669	162	26708											
SATB1	0	.	GRCh38	chr3	18394702	18394702	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggttcagcagctgagccatCaccagctgctggttgaccaa	9	9	11	12	0	2	2	2	2	0	0	2	2	2	2	3	2	5	6	3	2	1	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.966G>C	p.=	p.V322V	ENST00000417717	7/12	204	192	12	312	312	0	strelka-varscan-mutect	SATB1,synonymous_variant,p.=,ENST00000338745,NM_002971.4;SATB1,synonymous_variant,p.=,ENST00000417717,NM_001195470.1;SATB1,synonymous_variant,p.=,ENST00000454909,NM_001131010.2;SATB1,downstream_gene_variant,,ENST00000440737,;SATB1,downstream_gene_variant,,ENST00000475083,;TBC1D5,intron_variant,,ENST00000414318,;	G	ENST00000417717	Transcript	synonymous_variant	1937/4589	966/2388	322/795	V	gtG/gtC		1		-1	SATB1	HGNC	HGNC:10541	protein_coding	YES	CCDS56242.1	ENSP00000399518	Q01826		UPI0000E1FB67	NM_001195470.1			7/12		hmmpanther:PTHR15116,hmmpanther:PTHR15116:SF14																	LOW	1	SNV	1			1										PASS		rs764675060	.												G	2	3	81	18394702	18394702	C	G	1	0	0	0	0	0	0	0	1	14114	813	29	4		4	SATB1	3	18394702	Silent	SNP	C	C3N-01489_TP	4245812	18394702	179900857	163	26709											
PP2D1	0	.	GRCh38	chr3	20001957	20001957	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttgctcatagacctgctCctcttcatggcgtttggtgt	4	15	9	13	1	3	1	2	0	1	1	4	1	4	1	3	2	2	3	3	2	1	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.163G>T	p.Glu55Ter	p.E55*	ENST00000389050	2/3	289	271	18	405	405	0	strelka-varscan-mutect	PP2D1,stop_gained,p.Glu55Ter,ENST00000389050,NM_001252657.1;PP2D1,stop_gained,p.Glu55Ter,ENST00000333083,;PP2D1,non_coding_transcript_exon_variant,,ENST00000461033,;	A	ENST00000389050	Transcript	stop_gained	421/2151	163/1893	55/630	E/*	Gag/Tag		1		-1	PP2D1	HGNC	HGNC:28406	protein_coding	YES	CCDS58817.1	ENSP00000373702	A8MPX8		UPI000164284E	NM_001252657.1			2/3		hmmpanther:PTHR13832:SF245,hmmpanther:PTHR13832																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	81	20001957	20001957	C	A	1	0	0	0	0	0	1	0	0	12402	864	30	2		2	PP2D1	3	20001957	Nonsense_Mutation	SNP	C	C3N-01489_TP	1607255	20001957	178293602	164	26710											
SLC4A7	0	.	GRCh38	chr3	27394580	27394580	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaatcattagccctgtaaCccgctgttcacgaattccca	13	10	5	13	2	2	0	2	0	0	0	3	1	3	0	3	0	2	3	3	0	5	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.3028G>T	p.Val1010Phe	p.V1010F	ENST00000295736	20/25	238	218	20	370	369	1	strelka-varscan-mutect	SLC4A7,missense_variant,p.Val995Phe,ENST00000425128,NM_001321105.1,NM_001321106.1;SLC4A7,missense_variant,p.Val1010Phe,ENST00000295736,NM_003615.4;SLC4A7,missense_variant,p.Val886Phe,ENST00000428386,NM_001321107.1,NM_001258380.1;SLC4A7,missense_variant,p.Val561Phe,ENST00000419036,;SLC4A7,missense_variant,p.Val1019Phe,ENST00000454389,;SLC4A7,missense_variant,p.Val1006Phe,ENST00000440156,;SLC4A7,missense_variant,p.Val1006Phe,ENST00000445684,;SLC4A7,missense_variant,p.Val1002Phe,ENST00000446700,;SLC4A7,missense_variant,p.Val891Phe,ENST00000455077,NM_001258379.1;SLC4A7,missense_variant,p.Val891Phe,ENST00000437179,;SLC4A7,missense_variant,p.Val906Phe,ENST00000428179,;SLC4A7,3_prime_UTR_variant,,ENST00000438530,;SLC4A7,3_prime_UTR_variant,,ENST00000457377,;SLC4A7,3_prime_UTR_variant,,ENST00000437266,;SLC4A7,downstream_gene_variant,,ENST00000475120,;SLC4A7,upstream_gene_variant,,ENST00000465487,;	A	ENST00000295736	Transcript	missense_variant	3099/7757	3028/3645	1010/1214	V/F	Gtt/Ttt		1		-1	SLC4A7	HGNC	HGNC:11033	protein_coding	YES	CCDS33721.1	ENSP00000295736	Q9Y6M7		UPI0000DBEEB7	NM_003615.4	tolerated(0.06)		20/25		Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF36,TIGRFAM_domain:TIGR00834,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	27394580	27394580	C	A	1	0	0	0	0	1	0	0	0	14935	507	18	2		2	SLC4A7	3	27394580	Missense_Mutation	SNP	C	C3N-01489_TP	7392623	27394580	170900979	165	26711											
SLC4A7	0	.	GRCh38	chr3	27420763	27420763	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgtggtgccttgcccgcTggacccaataacaaaaacaa	13	8	8	12	1	0	0	0	0	0	0	0	1	0	1	3	2	5	1	3	2	6	3	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.1422A>T	p.=	p.P474P	ENST00000295736	10/25	159	141	18	253	253	0	strelka-varscan-mutect	SLC4A7,synonymous_variant,p.=,ENST00000425128,NM_001321105.1,NM_001321106.1;SLC4A7,synonymous_variant,p.=,ENST00000295736,NM_003615.4;SLC4A7,synonymous_variant,p.=,ENST00000428386,NM_001321107.1,NM_001258380.1;SLC4A7,synonymous_variant,p.=,ENST00000419036,;SLC4A7,synonymous_variant,p.=,ENST00000454389,;SLC4A7,synonymous_variant,p.=,ENST00000440156,;SLC4A7,synonymous_variant,p.=,ENST00000445684,;SLC4A7,synonymous_variant,p.=,ENST00000446700,;SLC4A7,synonymous_variant,p.=,ENST00000455077,NM_001258379.1;SLC4A7,synonymous_variant,p.=,ENST00000437179,;SLC4A7,synonymous_variant,p.=,ENST00000428179,;SLC4A7,synonymous_variant,p.=,ENST00000438530,;SLC4A7,synonymous_variant,p.=,ENST00000457377,;SLC4A7,synonymous_variant,p.=,ENST00000437266,;SLC4A7,downstream_gene_variant,,ENST00000428005,;SLC4A7,downstream_gene_variant,,ENST00000491211,;	A	ENST00000295736	Transcript	synonymous_variant	1493/7757	1422/3645	474/1214	P	ccA/ccT		1		-1	SLC4A7	HGNC	HGNC:11033	protein_coding	YES	CCDS33721.1	ENSP00000295736	Q9Y6M7		UPI0000DBEEB7	NM_003615.4			10/25		Gene3D:1hynR00,Pfam_domain:PF07565,Prints_domain:PR01231,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF36,Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	27420763	27420763	T	A	1	0	0	0	0	0	0	0	1	14935	1567	55	4		4	SLC4A7	3	27420763	Silent	SNP	T	C3N-01489_TP	26183	27420763	170874796	166	26712											
GADL1	0	.	GRCh38	chr3	30728328	30728328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggctgatcaccacctggcGgaagaagttgacctttcccc	9	8	11	13	1	1	3	1	2	0	1	2	4	2	4	5	3	0	2	5	3	2	2	rs750604147		C3N-01489_TP	C3N-01489_NB	G	G																c.1480C>A	p.Arg494Ser	p.R494S	ENST00000282538	15/15	224	209	15	312	312	0	strelka-varscan-mutect	GADL1,missense_variant,p.Arg494Ser,ENST00000282538,NM_207359.2;GADL1,non_coding_transcript_exon_variant,,ENST00000498387,;	T	ENST00000282538	Transcript	missense_variant	1631/3759	1480/1566	494/521	R/S	Cgc/Agc	rs750604147,COSM325380	1		-1	GADL1	HGNC	HGNC:27949	protein_coding	YES	CCDS2649.2	ENSP00000282538	Q6ZQY3		UPI000022BF90	NM_207359.2	deleterious(0)		15/15		hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF95,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs750604147	.												T	3	4	81	30728328	30728328	G	T	1	0	0	0	0	1	0	0	0	6056	1116	39	1		1	GADL1	3	30728328	Missense_Mutation	SNP	G	C3N-01489_TP	3307565	30728328	167567231	167	26713											
SCN5A	0	.	GRCh38	chr3	38603901	38603901	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggcactggtccggcgCaggggccagggcaccagcag	6	3	17	15	2	0	0	0	0	0	0	1	0	1	0	4	6	1	4	4	6	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1701G>C	p.=	p.L567L	ENST00000413689	12/28	201	186	15	296	296	0	strelka-varscan-mutect	SCN5A,synonymous_variant,p.=,ENST00000413689,NM_001099404.1;SCN5A,synonymous_variant,p.=,ENST00000333535,NM_198056.2;SCN5A,synonymous_variant,p.=,ENST00000425664,NM_001099405.1;SCN5A,synonymous_variant,p.=,ENST00000423572,NM_000335.4;SCN5A,synonymous_variant,p.=,ENST00000451551,NM_001160161.1;SCN5A,synonymous_variant,p.=,ENST00000414099,;SCN5A,synonymous_variant,p.=,ENST00000455624,NM_001160160.1;SCN5A,synonymous_variant,p.=,ENST00000450102,;SCN5A,synonymous_variant,p.=,ENST00000449557,;	G	ENST00000413689	Transcript	synonymous_variant	1895/8504	1701/6051	567/2016	L	ctG/ctC		1		-1	SCN5A	HGNC	HGNC:10593	protein_coding	YES	CCDS46799.1	ENSP00000410257		H9KVD2	UPI0001572CC8	NM_001099404.1			12/28		Pfam_domain:PF11933,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF206																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	81	38603901	38603901	C	G	1	0	0	0	0	0	0	0	1	14191	697	25	4		4	SCN5A	3	38603901	Silent	SNP	C	C3N-01489_TP	7875573	38603901	159691658	168	26714											
SNRK	0	.	GRCh38	chr3	43347454	43347454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggctgctgacagtgtcCtcaatggccacaggagcaaa	10	7	12	12	1	1	1	1	1	0	0	3	2	2	2	2	3	2	3	2	3	2	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1195C>A	p.Leu399Ile	p.L399I	ENST00000296088	7/7	127	111	16	146	146	0	strelka-varscan-mutect	SNRK,missense_variant,p.Leu399Ile,ENST00000296088,NM_017719.4;SNRK,missense_variant,p.Leu399Ile,ENST00000429705,NM_001100594.1;SNRK,missense_variant,p.Leu399Ile,ENST00000454177,;SNRK,missense_variant,p.Leu193Ile,ENST00000437827,;RP11-188P20.3,non_coding_transcript_exon_variant,,ENST00000607513,;SNRK-AS1,downstream_gene_variant,,ENST00000422681,;SNRK,intron_variant,,ENST00000468628,;SNRK,non_coding_transcript_exon_variant,,ENST00000481892,;	A	ENST00000296088	Transcript	missense_variant	1499/5183	1195/2298	399/765	L/I	Ctc/Atc		1		1	SNRK	HGNC	HGNC:30598	protein_coding	YES	CCDS43075.1	ENSP00000296088	Q9NRH2	A0A024R2Y6	UPI00000558E4	NM_017719.4	tolerated(0.07)		7/7																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	43347454	43347454	C	A	1	0	0	0	0	1	0	0	0	15171	681	24	2		2	SNRK	3	43347454	Missense_Mutation	SNP	C	C3N-01489_TP	4743553	43347454	154948105	169	26715											
TOPAZ1	0	.	GRCh38	chr3	44244487	44244487	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggcaaaactattcatCgaaaagcatgcattgctcaa	15	9	7	10	1	2	0	2	0	0	0	3	1	2	0	0	1	5	5	0	1	6	3	rs776686174		C3N-01489_TP	C3N-01489_NB	C	C																c.1981C>A	p.=	p.R661R	ENST00000309765	2/20	173	164	9	331	331	0	strelka-varscan-mutect	TOPAZ1,synonymous_variant,p.=,ENST00000309765,NM_001145030.1;	A	ENST00000309765	Transcript	synonymous_variant	2149/5334	1981/5079	661/1692	R	Cga/Aga	rs776686174	1		1	TOPAZ1	HGNC	HGNC:24746	protein_coding	YES	CCDS46809.1	ENSP00000310303	Q8N9V7		UPI000047FF75	NM_001145030.1			2/20		hmmpanther:PTHR35671,hmmpanther:PTHR35671:SF1																	LOW	1	SNV	5			1										PASS		rs776686174	.												A	2	1	81	44244487	44244487	C	A	1	0	0	0	0	0	0	0	1	16845	876	31	1		1	TOPAZ1	3	44244487	Silent	SNP	C	C3N-01489_TP	897033	44244487	154051072	170	26716											
TOPAZ1	0	.	GRCh38	chr3	44267067	44267067	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagtcccgaaacctctgTgtttattagtacctcctttg	8	15	6	12	1	1	0	0	0	1	0	3	1	3	0	5	0	3	2	5	0	5	6	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.3091T>A	p.Cys1031Ser	p.C1031S	ENST00000309765	6/20	186	175	11	287	287	0	strelka-varscan-mutect	TOPAZ1,missense_variant,p.Cys1031Ser,ENST00000309765,NM_001145030.1;	A	ENST00000309765	Transcript	missense_variant	3259/5334	3091/5079	1031/1692	C/S	Tgt/Agt		1		1	TOPAZ1	HGNC	HGNC:24746	protein_coding	YES	CCDS46809.1	ENSP00000310303	Q8N9V7		UPI000047FF75	NM_001145030.1	tolerated(0.32)		6/20		hmmpanther:PTHR35671,hmmpanther:PTHR35671:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	81	44267067	44267067	T	A	1	0	0	0	0	1	0	0	0	16845	1696	59	4		4	TOPAZ1	3	44267067	Missense_Mutation	SNP	T	C3N-01489_TP	22580	44267067	154028492	171	26717											
ZNF197	0	.	GRCh38	chr3	44642298	44642298	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcttataaaccatcggAgaatccacactggtgagaaa	15	8	7	11	1	1	2	0	1	1	2	3	4	2	2	3	2	1	0	3	2	5	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.1168A>G	p.Arg390Gly	p.R390G	ENST00000396058	5/5	140	129	11	271	271	0	strelka-varscan-mutect	ZNF197,missense_variant,p.Arg390Gly,ENST00000396058,;ZNF197,missense_variant,p.Arg390Gly,ENST00000344387,NM_006991.3;ZNF197,intron_variant,,ENST00000383745,NM_001024855.1;ZNF197,intron_variant,,ENST00000383744,;RP11-944L7.4,intron_variant,,ENST00000457331,;ZNF197,intron_variant,,ENST00000334075,;	G	ENST00000396058	Transcript	missense_variant	1335/4299	1168/3090	390/1029	R/G	Aga/Gga		1		1	ZNF197	HGNC	HGNC:12988	protein_coding	YES	CCDS2717.1	ENSP00000379370	O14709		UPI000013C317		deleterious(0.01)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF280,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1352212940	.												G	3	3	81	44642298	44642298	A	G	1	0	0	0	0	1	0	0	0	18336	296	11	5		5	ZNF197	3	44642298	Missense_Mutation	SNP	A	C3N-01489_TP	375231	44642298	153653261	172	26718											
SETD2	0	.	GRCh38	chr3	47120357	47120357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctctacctccactctaaCtttctttctgtcctgaagct	6	16	4	15	0	4	1	0	1	4	0	6	1	6	1	3	0	4	2	3	0	3	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.4279G>T	p.Val1427Phe	p.V1427F	ENST00000409792	3/21	60	49	11	87	87	0	strelka-varscan-mutect	SETD2,missense_variant,p.Val1427Phe,ENST00000409792,NM_014159.6;SETD2,downstream_gene_variant,,ENST00000412450,;SETD2,missense_variant,p.Val1299Phe,ENST00000330022,;SETD2,missense_variant,p.Val1145Phe,ENST00000431180,;SETD2,missense_variant,p.Val1061Phe,ENST00000445387,;	A	ENST00000409792	Transcript	missense_variant	4322/8142	4279/7695	1427/2564	V/F	Gtt/Ttt		1		-1	SETD2	HGNC	HGNC:18420	protein_coding	YES	CCDS2749.2	ENSP00000386759	Q9BYW2		UPI00017E10FB	NM_014159.6	deleterious(0.04)		3/21		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF344																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	81	47120357	47120357	C	A	1	0	0	0	0	1	0	0	0	14409	565	20	2		2	SETD2	3	47120357	Missense_Mutation	SNP	C	C3N-01489_TP	2478059	47120357	151175202	173	26719											
QRICH1	0	.	GRCh38	chr3	49057380	49057380	+	Missense_Mutation	SNP	C	C	A																															cacataactctgctgctggcCctgtggaatggccagcacgg																								novel		C3N-01489_TP	C3N-01489_NB	C	C																c.820G>T	p.Gly274Cys	p.G274C	ENST00000395443	3/10	191	176	15	341	341	0	strelka-varscan-mutect	QRICH1,missense_variant,p.Gly274Cys,ENST00000395443,NM_198880.1;QRICH1,missense_variant,p.Gly274Cys,ENST00000357496,NM_017730.2;QRICH1,missense_variant,p.Gly274Cys,ENST00000424300,;QRICH1,intron_variant,,ENST00000479449,;	A	ENST00000395443	Transcript	missense_variant	1293/3549	820/2331	274/776	G/C	Ggc/Tgc		1		-1	QRICH1	HGNC	HGNC:24713	protein_coding	YES	CCDS2787.1	ENSP00000378830	Q2TAL8	A1L3Z9	UPI0000209C85	NM_198880.1	deleterious(0)		3/10		hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF25																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	49057380	49057380	C	A	1	0	0	0	0	1	0	0	0	13034	623	22	2		2	QRICH1	3	49057380	Missense_Mutation	SNP	C	C3N-01489_TP	1937023	49057380	149238179	174	26720	568	2									
QRICH1	0	.	GRCh38	chr3	49057381	49057381	+	Missense_Mutation	SNP	C	C	A																															acataactctgctgctggccCtgtggaatggccagcacggt																								novel		C3N-01489_TP	C3N-01489_NB	C	C																c.819G>T	p.Gln273His	p.Q273H	ENST00000395443	3/10	189	174	15	339	339	0	strelka-varscan-mutect	QRICH1,missense_variant,p.Gln273His,ENST00000395443,NM_198880.1;QRICH1,missense_variant,p.Gln273His,ENST00000357496,NM_017730.2;QRICH1,missense_variant,p.Gln273His,ENST00000424300,;QRICH1,intron_variant,,ENST00000479449,;	A	ENST00000395443	Transcript	missense_variant	1292/3549	819/2331	273/776	Q/H	caG/caT		1		-1	QRICH1	HGNC	HGNC:24713	protein_coding	YES	CCDS2787.1	ENSP00000378830	Q2TAL8	A1L3Z9	UPI0000209C85	NM_198880.1	tolerated(0.08)		3/10		hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF25																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	49057381	49057381	C	A	1	0	0	0	0	1	0	0	0	13034	680	24	2		2	QRICH1	3	49057381	Missense_Mutation	SNP	C	C3N-01489_TP	1	49057381	149238178	175	26721	568	2									
RBM6	0	.	GRCh38	chr3	49968083	49968083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgattttaggaatagagatGtatctgatttggactttaga	12	16	10	3	0	1	4	0	2	1	2	1	7	1	6	0	2	0	1	0	2	5	7	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.658G>T	p.Val220Leu	p.V220L	ENST00000266022	3/21	177	168	9	315	315	0	strelka-varscan	RBM6,missense_variant,p.Val88Leu,ENST00000443081,;RBM6,missense_variant,p.Val220Leu,ENST00000266022,NM_005777.2;RBM6,intron_variant,,ENST00000422955,;RBM6,intron_variant,,ENST00000442092,NM_001167582.1;RBM6,downstream_gene_variant,,ENST00000433811,;RBM6,intron_variant,,ENST00000441115,;RBM6,downstream_gene_variant,,ENST00000488807,;RBM6,downstream_gene_variant,,ENST00000491874,;RBM6,missense_variant,p.Val88Leu,ENST00000454079,;RBM6,missense_variant,p.Val220Leu,ENST00000425608,;RBM6,intron_variant,,ENST00000434592,;RBM6,intron_variant,,ENST00000419610,;	T	ENST00000266022	Transcript	missense_variant	917/3750	658/3372	220/1123	V/L	Gta/Tta		1		1	RBM6	HGNC	HGNC:9903	protein_coding	YES	CCDS2809.1	ENSP00000266022	P78332		UPI000013D6C0	NM_005777.2	tolerated(0.15)		3/21		hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF22,Superfamily_domains:SSF141571																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	49968083	49968083	G	T	1	0	0	0	0	1	0	0	0	13311	1377	48	2		2	RBM6	3	49968083	Missense_Mutation	SNP	G	C3N-01489_TP	910702	49968083	148327476	176	26722											
DOCK3	0	.	GRCh38	chr3	51277688	51277688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactctgctcaccatcatGagcaaatcgcacgctcagga	12	7	8	14	2	4	2	3	1	1	1	5	3	4	3	1	1	2	4	1	1	1	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2757G>T	p.Met919Ile	p.M919I	ENST00000266037	26/53	107	94	13	137	137	0	strelka-varscan-mutect	DOCK3,missense_variant,p.Met919Ile,ENST00000266037,NM_004947.4;	T	ENST00000266037	Transcript	missense_variant	2780/8755	2757/6093	919/2030	M/I	atG/atT		1		1	DOCK3	HGNC	HGNC:2989	protein_coding	YES	CCDS46835.1	ENSP00000266037	Q8IZD9		UPI000007412C	NM_004947.4	tolerated(0.57)		26/53		hmmpanther:PTHR23317:SF66,hmmpanther:PTHR23317,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	51277688	51277688	G	T	1	0	0	0	0	1	0	0	0	4503	1290	45	2		2	DOCK3	3	51277688	Missense_Mutation	SNP	G	C3N-01489_TP	1309605	51277688	147017871	177	26723											
RAD54L2	0	.	GRCh38	chr3	51630896	51630896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaaaatgtcttccttGccccacagttggcacgggct	9	9	12	11	1	1	0	0	0	1	0	2	2	2	2	3	4	1	3	3	4	2	3	rs781070262		C3N-01489_TP	C3N-01489_NB	G	G																c.790G>T	p.Ala264Ser	p.A264S	ENST00000409535	6/22	154	146	8	219	219	0	strelka-varscan-mutect	RAD54L2,missense_variant,p.Ala264Ser,ENST00000409535,NM_001322253.1,NM_001322256.1,NM_015106.2;RAD54L2,missense_variant,p.Ala93Ser,ENST00000432863,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000461680,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000487093,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000462377,;	T	ENST00000409535	Transcript	missense_variant	915/9776	790/4404	264/1467	A/S	Gcc/Tcc	rs781070262	1		1	RAD54L2	HGNC	HGNC:29123	protein_coding	YES	CCDS33765.2	ENSP00000386520	Q9Y4B4		UPI000022C0AA	NM_001322253.1,NM_001322256.1,NM_015106.2	tolerated(0.25)		6/22		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		rs781070262	.												T	3	4	81	51630896	51630896	G	T	1	0	0	0	0	1	0	0	0	13155	1319	46	2		2	RAD54L2	3	51630896	Missense_Mutation	SNP	G	C3N-01489_TP	353208	51630896	146664663	178	26724											
GRM2	0	.	GRCh38	chr3	51713059	51713059	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccggaacccctggttccGtgaattctgggagcagaggt	8	8	14	11	2	1	2	0	1	1	1	2	4	2	4	4	4	3	2	4	4	2	2	rs200432452		C3N-01489_TP	C3N-01489_NB	G	G																c.1037G>C	p.Arg346Pro	p.R346P	ENST00000395052	3/6	224	210	14	354	354	0	strelka-varscan-mutect	GRM2,missense_variant,p.Arg346Pro,ENST00000395052,NM_000839.3;GRM2,missense_variant,p.Arg346Pro,ENST00000442933,;GRM2,downstream_gene_variant,,ENST00000419928,;GRM2,non_coding_transcript_exon_variant,,ENST00000496661,;GRM2,intron_variant,,ENST00000475478,;GRM2,downstream_gene_variant,,ENST00000477330,;GRM2,missense_variant,p.Arg346Pro,ENST00000296479,;GRM2,non_coding_transcript_exon_variant,,ENST00000464585,;	C	ENST00000395052	Transcript	missense_variant	1271/3151	1037/2619	346/872	R/P	cGt/cCt	rs200432452,COSM1424297	1		1	GRM2	HGNC	HGNC:4594	protein_coding	YES	CCDS2834.1	ENSP00000378492	Q14416		UPI000013E346	NM_000839.3	tolerated(0.16)		3/6		hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF111,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs200432452	.												C	3	2	81	51713059	51713059	G	C	1	0	0	0	0	1	0	0	0	6679	1145	40	4		4	GRM2	3	51713059	Missense_Mutation	SNP	G	C3N-01489_TP	82163	51713059	146582500	179	26725											
IQCF5	0	.	GRCh38	chr3	51874126	51874126	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgccccgccaccaggcctgGatgaaaacagctgcagacct	11	5	10	15	1	0	2	0	1	0	1	0	3	0	3	6	2	4	2	6	2	2	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.54C>A	p.=	p.I18I	ENST00000446461	2/2	125	111	14	223	222	1	strelka-varscan-mutect	IQCF5,synonymous_variant,p.=,ENST00000446461,NM_001145059.1;IQCF5-AS1,non_coding_transcript_exon_variant,,ENST00000440723,;RN7SL504P,downstream_gene_variant,,ENST00000494496,;	T	ENST00000446461	Transcript	synonymous_variant	107/512	54/447	18/148	I	atC/atA		1		-1	IQCF5	HGNC	HGNC:35159	protein_coding	YES	CCDS46838.1	ENSP00000394653	A8MTL0		UPI00002377DA	NM_001145059.1			2/2		Pfam_domain:PF00612,PROSITE_profiles:PS50096,hmmpanther:PTHR21633,hmmpanther:PTHR21633:SF11,SMART_domains:SM00015																	LOW		SNV	3			1										PASS		.	.												T	2	4	81	51874126	51874126	G	T	1	0	0	0	0	0	0	0	1	7714	1164	41	2		2	IQCF5	3	51874126	Silent	SNP	G	C3N-01489_TP	161067	51874126	146421433	180	26726											
RFT1	0	.	GRCh38	chr3	53103980	53103980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctaagcatggtccctcCgtagatatccagagccagct	10	9	10	12	1	0	3	0	1	0	2	3	3	3	3	4	1	4	4	4	1	3	3	rs201876415		C3N-01489_TP	C3N-01489_NB	C	C																c.1075G>C	p.Gly359Arg	p.G359R	ENST00000296292	10/13	363	337	26	523	523	0	strelka-varscan-mutect	RFT1,missense_variant,p.Gly359Arg,ENST00000296292,NM_052859.3;RFT1,missense_variant,p.Gly320Arg,ENST00000394738,;RFT1,downstream_gene_variant,,ENST00000467048,;RFT1,non_coding_transcript_exon_variant,,ENST00000471158,;RP11-894J14.5,upstream_gene_variant,,ENST00000607495,;RP11-894J14.5,upstream_gene_variant,,ENST00000607203,;RP11-894J14.5,upstream_gene_variant,,ENST00000607283,;	G	ENST00000296292	Transcript	missense_variant	1137/5108	1075/1626	359/541	G/R	Gga/Cga	rs201876415	1		-1	RFT1	HGNC	HGNC:30220	protein_coding	YES	CCDS2869.1	ENSP00000296292	Q96AA3		UPI000000DA67	NM_052859.3	deleterious(0)		10/13		Pfam_domain:PF04506,hmmpanther:PTHR13117																	MODERATE	1	SNV	1			1										PASS		rs201876415	.												G	3	3	81	53103980	53103980	C	G	1	0	0	0	0	1	0	0	0	13431	661	23	4		4	RFT1	3	53103980	Missense_Mutation	SNP	C	C3N-01489_TP	1229854	53103980	145191579	181	26727											
CACNA2D3	0	.	GRCh38	chr3	54891408	54891408	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcactcgcacgggcctctCcagaatcaacctgtttgtcg	7	9	10	15	4	2	1	1	0	1	1	5	1	2	1	3	2	1	3	3	2	2	1			C3N-01489_TP	C3N-01489_NB	C	C																c.2204C>A	p.Ser735Tyr	p.S735Y	ENST00000474759	25/38	205	186	19	230	228	2	strelka-varscan-mutect	CACNA2D3,missense_variant,p.Ser735Tyr,ENST00000474759,NM_018398.2;CACNA2D3,missense_variant,p.Ser735Tyr,ENST00000288197,;CACNA2D3,missense_variant,p.Ser735Tyr,ENST00000415676,;CACNA2D3,missense_variant,p.Ser641Tyr,ENST00000490478,;CACNA2D3,3_prime_UTR_variant,,ENST00000620722,;CACNA2D3-AS1,intron_variant,,ENST00000471265,;CACNA2D3,3_prime_UTR_variant,,ENST00000471363,;CACNA2D3,downstream_gene_variant,,ENST00000477024,;	A	ENST00000474759	Transcript	missense_variant	2252/3675	2204/3276	735/1091	S/Y	tCc/tAc	COSM340674	1		1	CACNA2D3	HGNC	HGNC:15460	protein_coding	YES	CCDS54598.1	ENSP00000419101	Q8IZS8		UPI000004A7BF	NM_018398.2	deleterious(0.03)		25/38		hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF25,Pfam_domain:PF08473											1						MODERATE	1	SNV	1		1	1										PASS		rs1326937537	.												A	3	1	81	54891408	54891408	C	A	1	0	0	0	0	1	0	0	0	2238	855	30	2		2	CACNA2D3	3	54891408	Missense_Mutation	SNP	C	C3N-01489_TP	1787428	54891408	143404151	182	26728											
ERC2	0	.	GRCh38	chr3	55683851	55683851	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgcccatatgccctcCtcgtcatcctgcggccggcc	4	9	10	18	3	1	0	1	0	0	0	4	0	3	0	6	3	3	1	6	3	2	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2856G>A	p.=	p.E952E	ENST00000288221	17/18	117	111	6	178	178	0	varscan-mutect	ERC2,synonymous_variant,p.=,ENST00000288221,NM_015576.1;ERC2,synonymous_variant,p.=,ENST00000612797,;ERC2,non_coding_transcript_exon_variant,,ENST00000468118,;ERC2,intron_variant,,ENST00000487287,;ERC2,synonymous_variant,p.=,ENST00000460849,;	T	ENST00000288221	Transcript	synonymous_variant	3112/6138	2856/2874	952/957	E	gaG/gaA		1		-1	ERC2	HGNC	HGNC:31922	protein_coding	YES	CCDS46851.1	ENSP00000288221	O15083		UPI00001C1572	NM_015576.1			17/18		hmmpanther:PTHR18861																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	55683851	55683851	C	T	1	0	0	0	0	0	0	0	1	5060	680	24	3		3	ERC2	3	55683851	Silent	SNP	C	C3N-01489_TP	792443	55683851	142611708	183	26729											
EPHA3	0	.	GRCh38	chr3	89341072	89341072	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatccatggcttgtacccGtgagtagttttgctgcaacc	7	13	9	12	1	0	1	0	1	0	0	2	1	2	1	4	1	4	6	4	1	3	5	rs754818412		C3N-01489_TP	C3N-01489_NB	G	G																c.970+1G>A		p.X324_splice	ENST00000336596		88	77	11	139	139	0	strelka-varscan-mutect	EPHA3,splice_donor_variant,,ENST00000336596,NM_005233.5;EPHA3,splice_donor_variant,,ENST00000494014,;EPHA3,splice_donor_variant,,ENST00000452448,NM_182644.2;	A	ENST00000336596	Transcript	splice_donor_variant	-/5809	970/2952	324/983			rs754818412,COSM387341,COSM387342,COSM584798,COSM584799	1		1	EPHA3	HGNC	HGNC:3387	protein_coding	YES	CCDS2922.1	ENSP00000337451	P29320	A0A140VJJ0	UPI0000163BE4	NM_005233.5				4/16												0,1,1,1,1						HIGH	1	SNV	1		0,1,1,1,1	1										PASS		rs754818412	.												A	5	1	81	89341072	89341072	G	A	1	0	0	0	0	0	0	1	0	5015	1159	40	1		1	EPHA3	3	89341072	Splice_Site	SNP	G	C3N-01489_TP	33657221	89341072	108954487	184	26730											
CEP97	0	.	GRCh38	chr3	101765220	101765220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatgttagtgaagaacatgGtgaatggaataaggaaagct	16	9	14	2	0	0	3	0	2	0	1	0	6	0	6	0	4	2	2	0	4	7	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2267G>T	p.Gly756Val	p.G756V	ENST00000341893	11/11	146	124	22	238	238	0	strelka-varscan-mutect	CEP97,missense_variant,p.Gly756Val,ENST00000341893,NM_024548.3;CEP97,missense_variant,p.Gly697Val,ENST00000494050,NM_001303401.1;CEP97,downstream_gene_variant,,ENST00000467655,;	T	ENST00000341893	Transcript	missense_variant	3019/8361	2267/2598	756/865	G/V	gGt/gTt		1		1	CEP97	HGNC	HGNC:26244	protein_coding	YES	CCDS2944.1	ENSP00000342510	Q8IW35		UPI0000074569	NM_024548.3	deleterious(0.01)		11/11																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	101765220	101765220	G	T	1	0	0	0	0	1	0	0	0	2989	1261	44	2		2	CEP97	3	101765220	Missense_Mutation	SNP	G	C3N-01489_TP	12424148	101765220	96530339	185	26731											
CD200R1	0	.	GRCh38	chr3	112929321	112929321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatcaggtctggagaccCaggttattctctcatcagta	9	13	9	10	0	6	2	3	1	3	1	7	3	6	2	1	3	0	2	1	3	2	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.389G>T	p.Trp130Leu	p.W130L	ENST00000308611	4/8	275	254	21	485	485	0	varscan-mutect	CD200R1,missense_variant,p.Trp107Leu,ENST00000471858,NM_170780.2;CD200R1,missense_variant,p.Trp130Leu,ENST00000308611,NM_138806.3;CD200R1,missense_variant,p.Trp85Leu,ENST00000295863,;CD200R1,missense_variant,p.Trp130Leu,ENST00000440122,NM_138939.2;CD200R1,missense_variant,p.Trp107Leu,ENST00000490004,NM_138940.2;	A	ENST00000308611	Transcript	missense_variant	654/2299	389/1047	130/348	W/L	tGg/tTg		1		-1	CD200R1	HGNC	HGNC:24235	protein_coding	YES	CCDS2969.1	ENSP00000311035	Q8TD46		UPI000013E2BD	NM_138806.3	deleterious(0)		4/8		hmmpanther:PTHR21462,hmmpanther:PTHR21462:SF2,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	112929321	112929321	C	A	1	0	0	0	0	1	0	0	0	2684	595	21	2		2	CD200R1	3	112929321	Missense_Mutation	SNP	C	C3N-01489_TP	11164101	112929321	85366238	186	26732											
GAP43	0	.	GRCh38	chr3	115676447	115676447	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataactcgccgtcctccaaGgctgaagatgccccagccaa	11	6	9	15	2	0	2	0	1	0	1	3	3	2	2	6	1	3	1	6	1	4	1			C3N-01489_TP	C3N-01489_NB	G	G																c.573G>A	p.=	p.K191K	ENST00000393780	3/4	110	89	21	146	146	0	strelka-varscan-mutect	GAP43,synonymous_variant,p.=,ENST00000393780,NM_001130064.1;GAP43,synonymous_variant,p.=,ENST00000305124,NM_002045.3;	A	ENST00000393780	Transcript	synonymous_variant	1041/1901	573/825	191/274	K	aaG/aaA	COSM1207911,COSM1207912	1		1	GAP43	HGNC	HGNC:4140	protein_coding	YES	CCDS46890.1	ENSP00000377372	P17677		UPI0000209FC5	NM_001130064.1			3/4		hmmpanther:PTHR10699:SF15,hmmpanther:PTHR10699,Pfam_domain:PF06614											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	81	115676447	115676447	G	A	1	0	0	0	0	0	0	0	1	6103	991	35	3		3	GAP43	3	115676447	Silent	SNP	G	C3N-01489_TP	2747126	115676447	82619112	187	26733											
LSAMP	0	.	GRCh38	chr3	115810343	115810343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgagaaggcagagcaGagatgctgccagcagccaca	12	6	13	10	0	0	3	0	1	0	3	0	5	0	3	2	1	6	5	2	1	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.991C>A	p.Leu331Met	p.L331M	ENST00000490035	7/7	223	197	26	289	288	1	strelka-varscan-mutect	LSAMP,missense_variant,p.Leu331Met,ENST00000490035,NM_002338.3;LSAMP,missense_variant,p.Leu281Met,ENST00000539563,;LSAMP,missense_variant,p.Leu338Met,ENST00000333617,;LSAMP,non_coding_transcript_exon_variant,,ENST00000475403,;	T	ENST00000490035	Transcript	missense_variant	1491/9446	991/1017	331/338	L/M	Ctg/Atg		1		-1	LSAMP	HGNC	HGNC:6705	protein_coding	YES	CCDS2982.1	ENSP00000419000	Q13449		UPI00000746A0	NM_002338.3	deleterious(0.02)		7/7		hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF118,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	115810343	115810343	G	T	1	0	0	0	0	1	0	0	0	8954	933	33	2		2	LSAMP	3	115810343	Missense_Mutation	SNP	G	C3N-01489_TP	133896	115810343	82485216	188	26734											
STXBP5L	0	.	GRCh38	chr3	121259074	121259074	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagtgcgaatgcctccaGgatatcaagcagaacttgtt	11	9	11	10	1	1	1	1	0	0	1	2	3	2	2	3	2	4	2	3	2	4	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1864G>T	p.Gly622Ter	p.G622*	ENST00000273666	18/28	154	128	26	169	169	0	strelka-varscan-mutect	STXBP5L,stop_gained,p.Gly622Ter,ENST00000273666,NM_014980.2;STXBP5L,stop_gained,p.Gly622Ter,ENST00000471454,NM_001308330.1;STXBP5L,stop_gained,p.Gly622Ter,ENST00000471262,;STXBP5L,stop_gained,p.Gly622Ter,ENST00000492541,;STXBP5L,stop_gained,p.Gly622Ter,ENST00000472879,;STXBP5L,stop_gained,p.Gly622Ter,ENST00000497029,;	T	ENST00000273666	Transcript	stop_gained	2135/9496	1864/3561	622/1186	G/*	Gga/Tga		1		1	STXBP5L	HGNC	HGNC:30757	protein_coding	YES	CCDS43137.1	ENSP00000273666	Q9Y2K9		UPI00001C1DEA	NM_014980.2			18/28		hmmpanther:PTHR10241:SF19,hmmpanther:PTHR10241																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	81	121259074	121259074	G	T	1	0	0	0	0	0	1	0	0	15741	1001	35	2		2	STXBP5L	3	121259074	Nonsense_Mutation	SNP	G	C3N-01489_TP	5448731	121259074	77036485	189	26735											
POLQ	0	.	GRCh38	chr3	121529741	121529741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaaagtaatactgaatGgttatcacaaatcgtctcat	18	11	5	7	1	2	1	2	1	1	0	4	1	2	1	0	1	1	2	0	1	8	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1012C>T	p.His338Tyr	p.H338Y	ENST00000264233	7/30	203	180	23	320	320	0	strelka-varscan-mutect	POLQ,missense_variant,p.His471Tyr,ENST00000621776,;POLQ,missense_variant,p.His338Tyr,ENST00000264233,NM_199420.3;POLQ,non_coding_transcript_exon_variant,,ENST00000488282,;	A	ENST00000264233	Transcript	missense_variant	1141/8775	1012/7773	338/2590	H/Y	Cat/Tat		1		-1	POLQ	HGNC	HGNC:9186	protein_coding	YES	CCDS33833.1	ENSP00000264233	O75417		UPI0000D61B5F	NM_199420.3	deleterious(0.03)		7/30		PROSITE_profiles:PS51194,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	121529741	121529741	G	A	1	0	0	0	0	1	0	0	0	12318	1348	47	3		3	POLQ	3	121529741	Missense_Mutation	SNP	G	C3N-01489_TP	270667	121529741	76765818	190	26736											
FBXO40	0	.	GRCh38	chr3	121622257	121622257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaatcagaagcagcaGgacgttcgtacagccatgga	15	5	12	9	2	1	1	1	0	0	1	2	4	1	4	1	3	4	4	1	3	4	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.828G>T	p.Gln276His	p.Q276H	ENST00000338040	3/4	225	185	40	336	336	0	strelka-varscan-mutect	FBXO40,missense_variant,p.Gln276His,ENST00000338040,NM_016298.3;	T	ENST00000338040	Transcript	missense_variant	1242/5929	828/2130	276/709	Q/H	caG/caT		1		1	FBXO40	HGNC	HGNC:29816	protein_coding	YES	CCDS33835.1	ENSP00000337510	Q9UH90		UPI000020A046	NM_016298.3	tolerated(0.13)		3/4		hmmpanther:PTHR15933,hmmpanther:PTHR15933:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	121622257	121622257	G	T	1	0	0	0	0	1	0	0	0	5612	991	35	2		2	FBXO40	3	121622257	Missense_Mutation	SNP	G	C3N-01489_TP	92516	121622257	76673302	191	26737											
ADCY5	0	.	GRCh38	chr3	123327704	123327704	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgcccccacagcctggctCcacctcgtagtccccattca	6	8	6	21	2	1	0	1	0	0	0	5	0	3	0	7	1	1	2	7	1	1	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1861G>T	p.Glu621Ter	p.E621*	ENST00000462833	7/21	204	192	12	315	315	0	strelka-varscan-mutect	ADCY5,stop_gained,p.Glu621Ter,ENST00000462833,NM_183357.2;ADCY5,stop_gained,p.Glu254Ter,ENST00000491190,;ADCY5,stop_gained,p.Glu271Ter,ENST00000309879,NM_001199642.1;ADCY5,stop_gained,p.Glu180Ter,ENST00000466617,;ADCY5,downstream_gene_variant,,ENST00000483566,;ADCY5,downstream_gene_variant,,ENST00000476455,;	A	ENST00000462833	Transcript	stop_gained	3074/7311	1861/3786	621/1261	E/*	Gag/Tag		1		-1	ADCY5	HGNC	HGNC:236	protein_coding	YES	CCDS3022.1	ENSP00000419361	O95622		UPI000015E262	NM_183357.2			7/21		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF332,SMART_domains:SM00044,Superfamily_domains:SSF55073																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	81	123327704	123327704	C	A	1	0	0	0	0	0	1	0	0	341	864	30	2		2	ADCY5	3	123327704	Nonsense_Mutation	SNP	C	C3N-01489_TP	1705447	123327704	74967855	192	26738											
UROC1	0	.	GRCh38	chr3	126508467	126508467	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccataggtcaccagctcCtggggaaactgaggaagaca	12	6	11	12	0	1	2	1	1	0	1	3	4	3	4	4	4	2	1	4	4	3	1			C3N-01489_TP	C3N-01489_NB	C	C																c.360G>A	p.=	p.Q120Q	ENST00000383579	4/21	242	225	17	355	355	0	strelka-varscan-mutect	UROC1,synonymous_variant,p.=,ENST00000290868,NM_144639.2;UROC1,synonymous_variant,p.=,ENST00000383579,NM_001165974.1;	T	ENST00000383579	Transcript	synonymous_variant	394/2735	360/2211	120/736	Q	caG/caA	COSM3058812,COSM3058813	1		-1	UROC1	HGNC	HGNC:26444	protein_coding	YES	CCDS54636.1	ENSP00000373073	Q96N76		UPI0000480109	NM_001165974.1			4/21		Gene3D:1x87B01,HAMAP:MF_00577,Pfam_domain:PF01175,hmmpanther:PTHR12216,hmmpanther:PTHR12216:SF3,Superfamily_domains:SSF111326											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	81	126508467	126508467	C	T	1	0	0	0	0	0	0	0	1	17560	680	24	3		3	UROC1	3	126508467	Silent	SNP	C	C3N-01489_TP	3180763	126508467	71787092	193	26739											
COL6A5	0	.	GRCh38	chr3	130415694	130415694	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaaggaagccaggggcAgaaaggacctcaggtgagtg	16	3	16	6	0	1	3	1	1	0	2	1	5	1	5	2	5	1	1	2	5	4	0	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.4811A>T	p.Gln1604Leu	p.Q1604L	ENST00000265379	23/43	156	125	31	202	202	0	strelka-varscan-mutect	COL6A5,missense_variant,p.Gln1604Leu,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,missense_variant,p.Gln1604Leu,ENST00000312481,;	T	ENST00000265379	Transcript	missense_variant	5305/9214	4811/7836	1604/2611	Q/L	cAg/cTg		1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1	tolerated(0.69)		23/43		Low_complexity_(Seg):seg,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF133,Pfam_domain:PF01391																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	130415694	130415694	A	T	1	0	0	0	0	1	0	0	0	3491	188	7	4		4	COL6A5	3	130415694	Missense_Mutation	SNP	A	C3N-01489_TP	3907227	130415694	67879865	194	26740											
COL6A6	0	.	GRCh38	chr3	130570891	130570891	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtattgactatgatgagtaTaatatcatgaaggattttat	15	16	8	2	0	1	4	1	4	0	0	1	5	1	5	0	1	0	2	0	1	7	8			C3N-01489_TP	C3N-01489_NB	T	T																c.2475T>A	p.Tyr825Ter	p.Y825*	ENST00000358511	6/36	152	140	12	219	219	0	strelka-mutect	COL6A6,stop_gained,p.Tyr825Ter,ENST00000358511,NM_001102608.1;	A	ENST00000358511	Transcript	stop_gained	2506/9581	2475/6792	825/2263	Y/*	taT/taA	COSM5344348,COSM5344349	1		1	COL6A6	HGNC	HGNC:27023	protein_coding	YES	CCDS46911.1	ENSP00000351310	A6NMZ7		UPI00015B6548	NM_001102608.1			6/36		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,SMART_domains:SM00327,Superfamily_domains:SSF53300											1,1						HIGH	1	SNV	5		1,1	1										PASS		.	.												A	4	1	81	130570891	130570891	T	A	1	0	0	0	0	0	1	0	0	3492	1413	49	4		4	COL6A6	3	130570891	Nonsense_Mutation	SNP	T	C3N-01489_TP	155197	130570891	67724668	195	26741											
PRR23A	0	.	GRCh38	chr3	139006053	139006053	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accaggtcgacgtcgtccagGggcacacgcagggcacagcc	9	3	14	15	4	0	0	0	0	0	0	3	1	1	0	3	4	1	3	3	4	0	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.216C>A	p.=	p.P72P	ENST00000383163	1/1	108	91	17	171	171	0	strelka-varscan-mutect	PRR23A,synonymous_variant,p.=,ENST00000383163,NM_001134659.1;MRPS22,5_prime_UTR_variant,,ENST00000495075,;	T	ENST00000383163	Transcript	synonymous_variant	216/801	216/801	72/266	P	ccC/ccA		1		-1	PRR23A	HGNC	HGNC:37172	protein_coding	YES	CCDS46923.1	ENSP00000372649	A6NEV1		UPI00003671C1	NM_001134659.1			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR31813:SF7,hmmpanther:PTHR31813,Pfam_domain:PF10630																	LOW		SNV				1										PASS		.	.												T	2	4	81	139006053	139006053	G	T	1	0	0	0	0	0	0	0	1	12729	1219	43	2		2	PRR23A	3	139006053	Silent	SNP	G	C3N-01489_TP	8435162	139006053	59289506	196	26742											
ANKUB1	0	.	GRCh38	chr3	149767807	149767807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tataatacacagtctttatgCttgtgtttgaacacaatggt	12	16	7	6	0	1	1	0	1	1	0	1	1	1	1	0	1	3	2	0	1	6	7	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.855G>T	p.Lys285Asn	p.K285N	ENST00000446160	5/6	141	132	9	210	210	0	strelka-varscan-mutect	ANKUB1,missense_variant,p.Lys285Asn,ENST00000446160,NM_001144960.1;ANKUB1,missense_variant,p.Lys285Asn,ENST00000462519,NM_001315506.1;ANKUB1,3_prime_UTR_variant,,ENST00000484019,NM_001315505.1;	A	ENST00000446160	Transcript	missense_variant	1312/2471	855/1635	285/544	K/N	aaG/aaT		1		-1	ANKUB1	HGNC	HGNC:29642	protein_coding	YES		ENSP00000387907		E9PHT4	UPI0000DD7B6F	NM_001144960.1	deleterious(0.04)		5/6		hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF111,Pfam_domain:PF13637,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	81	149767807	149767807	C	A	1	0	0	0	0	1	0	0	0	799	796	28	2		2	ANKUB1	3	149767807	Missense_Mutation	SNP	C	C3N-01489_TP	10761754	149767807	48527752	197	26743											
IGSF10	0	.	GRCh38	chr3	151447221	151447221	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atagtccttactgttattggGggtctactttggaaatgctc	8	16	10	7	0	1	0	0	0	1	0	3	1	2	1	1	3	3	2	1	3	5	6	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2760C>A	p.=	p.P920P	ENST00000282466	4/6	259	217	42	426	426	0	strelka-varscan-mutect	IGSF10,synonymous_variant,p.=,ENST00000282466,NM_178822.4;IGSF10,upstream_gene_variant,,ENST00000489791,;	T	ENST00000282466	Transcript	synonymous_variant	2760/11067	2760/7872	920/2623	P	ccC/ccA		1		-1	IGSF10	HGNC	HGNC:26384	protein_coding	YES	CCDS3160.1	ENSP00000282466	Q6WRI0		UPI00001D629A	NM_178822.4			4/6																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	151447221	151447221	G	T	1	0	0	0	0	0	0	0	1	7504	1219	43	2		2	IGSF10	3	151447221	Silent	SNP	G	C3N-01489_TP	1679414	151447221	46848338	198	26744											
SHOX2	0	.	GRCh38	chr3	158099877	158099877	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcctgctgaaatggcatccTtaaagcacctacgttgacat	11	11	8	11	1	0	2	0	2	0	0	1	2	1	2	3	1	4	4	3	1	4	3	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.757A>T	p.Arg253Trp	p.R253W	ENST00000389589	5/6	162	146	16	211	210	1	strelka-varscan-mutect	SHOX2,missense_variant,p.Arg229Trp,ENST00000441443,NM_006884.3;SHOX2,missense_variant,p.Arg253Trp,ENST00000389589,NM_003030.4;SHOX2,missense_variant,p.Arg229Trp,ENST00000483851,NM_001163678.1;SHOX2,missense_variant,p.Arg100Trp,ENST00000425436,;SHOX2,downstream_gene_variant,,ENST00000554685,;SHOX2,non_coding_transcript_exon_variant,,ENST00000490689,;	A	ENST00000389589	Transcript	missense_variant	893/2072	757/1068	253/355	R/W	Agg/Tgg		1		-1	SHOX2	HGNC	HGNC:10854	protein_coding	YES	CCDS33884.2	ENSP00000374240	O60902		UPI0000169EC9	NM_003030.4	deleterious(0)		5/6		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF290																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	158099877	158099877	T	A	1	0	0	0	0	1	0	0	0	14552	1608	56	4		4	SHOX2	3	158099877	Missense_Mutation	SNP	T	C3N-01489_TP	6652656	158099877	40195682	199	26745											
FNDC3B	0	.	GRCh38	chr3	172112541	172112541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgccaccattgctgaacgGagaggtagccatgatgcccc	10	7	11	13	1	0	3	0	2	0	1	0	4	0	3	5	2	5	2	5	2	2	2	rs771905097		C3N-01489_TP	C3N-01489_NB	G	G																c.62G>T	p.Gly21Val	p.G21V	ENST00000336824	2/26	357	307	50	479	479	0	strelka-varscan-mutect	FNDC3B,missense_variant,p.Gly21Val,ENST00000336824,NM_001135095.1;FNDC3B,missense_variant,p.Gly21Val,ENST00000415807,NM_022763.3;FNDC3B,missense_variant,p.Gly21Val,ENST00000416957,;FNDC3B,missense_variant,p.Gly21Val,ENST00000421757,;FNDC3B,missense_variant,p.Gly21Val,ENST00000423424,;FNDC3B,non_coding_transcript_exon_variant,,ENST00000469491,;	T	ENST00000336824	Transcript	missense_variant	161/7904	62/3615	21/1204	G/V	gGa/gTa	rs771905097	1		1	FNDC3B	HGNC	HGNC:24670	protein_coding	YES	CCDS3217.1	ENSP00000338523	Q53EP0		UPI00001AE8B2	NM_001135095.1	tolerated(0.08)		2/26																			MODERATE	1	SNV	1			1										PASS		rs771905097	.												T	3	4	81	172112541	172112541	G	T	1	0	0	0	0	1	0	0	0	5827	1174	41	2		2	FNDC3B	3	172112541	Missense_Mutation	SNP	G	C3N-01489_TP	14012664	172112541	26183018	200	26746											
NLGN1	0	.	GRCh38	chr3	174279176	174279176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggagtgaaccaaggggaagGgttaaaatttgttgaaaata	17	9	13	2	0	0	2	0	2	0	0	0	4	0	4	1	4	1	2	1	4	8	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1175G>T	p.Gly392Val	p.G392V	ENST00000457714	6/7	148	125	23	219	219	0	strelka-varscan-mutect	NLGN1,missense_variant,p.Gly392Val,ENST00000457714,NM_014932.3;NLGN1,missense_variant,p.Gly392Val,ENST00000361589,;NLGN1,missense_variant,p.Gly177Val,ENST00000401917,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,non_coding_transcript_exon_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;NLGN1,downstream_gene_variant,,ENST00000469564,;NLGN1,downstream_gene_variant,,ENST00000490929,;	T	ENST00000457714	Transcript	missense_variant	1604/8242	1175/2472	392/823	G/V	gGg/gTg		1		1	NLGN1	HGNC	HGNC:14291	protein_coding	YES	CCDS3222.1	ENSP00000392500	Q8N2Q7		UPI0000072F54	NM_014932.3	deleterious(0)		6/7		hmmpanther:PTHR11559:SF52,hmmpanther:PTHR11559,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	174279176	174279176	G	T	1	0	0	0	0	1	0	0	0	10498	1232	43	2		2	NLGN1	3	174279176	Missense_Mutation	SNP	G	C3N-01489_TP	2166635	174279176	24016383	201	26747											
ABCC5	0	.	GRCh38	chr3	183978526	183978526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgctgtcagatcgaagcCcagggtcatatgaacagaga	12	8	12	9	1	2	3	2	1	0	2	3	5	2	3	1	1	4	2	1	1	3	1			C3N-01489_TP	C3N-01489_NB	C	C																c.1273G>T	p.Gly425Cys	p.G425C	ENST00000334444	9/30	139	116	23	193	191	2	strelka-varscan-mutect	ABCC5,missense_variant,p.Gly425Cys,ENST00000334444,NM_005688.2;ABCC5,missense_variant,p.Gly425Cys,ENST00000265586,;ABCC5,non_coding_transcript_exon_variant,,ENST00000492216,;ABCC5,missense_variant,p.Gly425Cys,ENST00000437205,NM_001320032.1;	A	ENST00000334444	Transcript	missense_variant	1514/5921	1273/4314	425/1437	G/C	Ggc/Tgc	COSM3590596	1		-1	ABCC5	HGNC	HGNC:56	protein_coding	YES	CCDS43176.1	ENSP00000333926	O15440		UPI000004A33C	NM_005688.2	deleterious(0)		9/30		PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF196,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	81	183978526	183978526	C	A	1	0	0	0	0	1	0	0	0	60	623	22	2		2	ABCC5	3	183978526	Missense_Mutation	SNP	C	C3N-01489_TP	9699350	183978526	14317033	202	26748											
POLR2H	0	.	GRCh38	chr3	184368202	184368202	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtacgtgtcctatgggggcCtgctcatgaggctgcagggg	5	9	17	10	2	1	1	1	1	0	0	2	1	2	1	2	5	3	4	2	5	2	2			C3N-01489_TP	C3N-01489_NB	C	C																c.425C>G	p.Pro142Arg	p.P142R	ENST00000429568	5/5	139	132	7	219	219	0	strelka-varscan-mutect	POLR2H,missense_variant,p.Leu121Val,ENST00000456318,NM_006232.3;POLR2H,missense_variant,p.Leu93Val,ENST00000430783,NM_001278714.1;POLR2H,missense_variant,p.Leu85Val,ENST00000438240,NM_001278700.1;POLR2H,missense_variant,p.Pro142Arg,ENST00000429568,NM_001278698.1;POLR2H,missense_variant,p.Leu121Val,ENST00000455712,;POLR2H,missense_variant,p.Leu57Val,ENST00000443489,NM_001278715.1;POLR2H,missense_variant,p.Leu85Val,ENST00000452961,NM_001278699.1;THPO,downstream_gene_variant,,ENST00000204615,NM_000460.3,NM_001289998.1,NM_001290028.1;THPO,downstream_gene_variant,,ENST00000445696,NM_001177598.2,NM_001290022.1,NM_001177597.2,NM_001290026.1;THPO,downstream_gene_variant,,ENST00000421442,NM_001289997.1,NM_001290027.1;POLR2H,downstream_gene_variant,,ENST00000412877,;POLR2H,downstream_gene_variant,,ENST00000460083,;THPO,downstream_gene_variant,,ENST00000477594,;POLR2H,non_coding_transcript_exon_variant,,ENST00000488213,;POLR2H,non_coding_transcript_exon_variant,,ENST00000476003,;POLR2H,non_coding_transcript_exon_variant,,ENST00000489043,;POLR2H,downstream_gene_variant,,ENST00000490958,;	G	ENST00000429568	Transcript	missense_variant	484/878	425/528	142/175	P/R	cCt/cGt	COSM4424676	1		1	POLR2H	HGNC	HGNC:9195	protein_coding	YES	CCDS63859.1	ENSP00000415536	P52434		UPI000198CBDF	NM_001278698.1	deleterious_low_confidence(0)		5/5													1						MODERATE		SNV	2		1	1										PASS		.	.												G	3	3	81	184368202	184368202	C	G	1	0	0	0	0	1	0	0	0	12331	681	24	4		4	POLR2H	3	184368202	Missense_Mutation	SNP	C	C3N-01489_TP	389676	184368202	13927357	203	26749											
TMEM207	0	.	GRCh38	chr3	190440373	190440373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagaagagctgccaccaaaaCcagcagcaggaggatcctga	15	3	12	11	0	0	3	0	1	0	2	1	6	1	5	4	2	5	3	4	2	3	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.175G>C	p.Val59Leu	p.V59L	ENST00000354905	4/5	93	84	9	108	108	0	strelka-varscan-mutect	TMEM207,missense_variant,p.Val59Leu,ENST00000354905,NM_207316.1;	G	ENST00000354905	Transcript	missense_variant	242/1448	175/441	59/146	V/L	Gtt/Ctt		1		-1	TMEM207	HGNC	HGNC:33705	protein_coding	YES	CCDS3297.1	ENSP00000346981	Q6UWW9		UPI0000048F12	NM_207316.1	tolerated(0.21)		4/5		hmmpanther:PTHR36467,hmmpanther:PTHR36467:SF1,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1176326813	.												G	3	3	81	190440373	190440373	C	G	1	0	0	0	0	1	0	0	0	16571	507	18	4		4	TMEM207	3	190440373	Missense_Mutation	SNP	C	C3N-01489_TP	6072171	190440373	7855186	204	26750											
MUC4	0	.	GRCh38	chr3	195791289	195791289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaaaaaagagttgatgtCatcatctgcgtgagggtgtc	13	10	13	5	1	3	4	2	2	1	2	4	5	3	4	0	1	1	1	0	1	4	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.291G>A	p.Met97Ile	p.M97I	ENST00000463781	2/25	183	136	47	236	236	0	strelka-varscan-mutect	MUC4,missense_variant,p.Met97Ile,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Met97Ile,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Met97Ile,ENST00000478156,;MUC4,missense_variant,p.Met97Ile,ENST00000466475,;MUC4,missense_variant,p.Met97Ile,ENST00000477756,;MUC4,missense_variant,p.Met97Ile,ENST00000477086,;MUC4,missense_variant,p.Met97Ile,ENST00000480843,;MUC4,missense_variant,p.Met97Ile,ENST00000462323,;MUC4,missense_variant,p.Met97Ile,ENST00000470451,;MUC4,missense_variant,p.Met97Ile,ENST00000479406,;	T	ENST00000463781	Transcript	missense_variant	751/17110	291/16239	97/5412	M/I	atG/atA		1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	tolerated_low_confidence(0.43)		2/25																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	195791289	195791289	C	T	1	0	0	0	0	1	0	0	0	9977	826	29	3		3	MUC4	3	195791289	Missense_Mutation	SNP	C	C3N-01489_TP	5350916	195791289	2504270	205	26751											
CLRN2	0	.	GRCh38	chr4	17526897	17526897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaacgaatcgccaactttCaggagaagctcttccagttt	11	10	9	11	3	2	1	1	0	1	1	4	4	3	2	2	2	3	2	2	2	4	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.514C>A	p.Gln172Lys	p.Q172K	ENST00000511148	3/3	294	251	43	468	467	1	strelka-varscan-mutect	CLRN2,missense_variant,p.Gln172Lys,ENST00000511148,NM_001079827.2;	A	ENST00000511148	Transcript	missense_variant	616/823	514/699	172/232	Q/K	Cag/Aag		1		1	CLRN2	HGNC	HGNC:33939	protein_coding	YES	CCDS47032.1	ENSP00000424711	A0PK11		UPI0000D6154A	NM_001079827.2	tolerated(1)		3/3		hmmpanther:PTHR31548,hmmpanther:PTHR31548:SF5,PD525711																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	17526897	17526897	C	A	1	0	0	0	0	1	0	0	0	3330	827	29	2		2	CLRN2	4	17526897	Missense_Mutation	SNP	C	C3N-01489_TP		17526897	172687658	206	26752											
GABRG1	0	.	GRCh38	chr4	46065558	46065558	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgactgtcaaaccaggtttgGgcaaaaattatatctattgt	13	13	8	7	1	2	0	1	0	1	0	2	1	2	0	1	2	1	2	1	2	6	5	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.348C>A	p.=	p.A116A	ENST00000295452	4/9	155	98	57	176	176	0	strelka-varscan-mutect	GABRG1,synonymous_variant,p.=,ENST00000295452,NM_173536.3;	T	ENST00000295452	Transcript	synonymous_variant	516/6785	348/1398	116/465	A	gcC/gcA		1		-1	GABRG1	HGNC	HGNC:4086	protein_coding	YES	CCDS3470.1	ENSP00000295452	Q8N1C3		UPI0000047AE2	NM_173536.3			4/9		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR00252,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,TIGRFAM_domain:TIGR00860																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	46065558	46065558	G	T	1	0	0	0	0	0	0	0	1	6042	1219	43	2		2	GABRG1	4	46065558	Silent	SNP	G	C3N-01489_TP	28538661	46065558	144148997	207	26753											
GABRA2	0	.	GRCh38	chr4	46303560	46303560	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agataggtttgaatcacaaaAtacccaatttttcttttcag	14	15	5	7	0	3	2	2	1	1	1	3	2	3	2	1	1	1	1	1	1	6	7	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.756T>A	p.Tyr252Ter	p.Y252*	ENST00000510861	8/10	236	211	25	271	271	0	strelka-varscan-mutect	GABRA2,stop_gained,p.Tyr252Ter,ENST00000510861,;GABRA2,stop_gained,p.Tyr252Ter,ENST00000514090,;GABRA2,stop_gained,p.Tyr252Ter,ENST00000356504,NM_001114175.1;GABRA2,stop_gained,p.Tyr168Ter,ENST00000540012,NM_001286827.1;GABRA2,stop_gained,p.Tyr252Ter,ENST00000381620,NM_000807.2;GABRA2,stop_gained,p.Tyr252Ter,ENST00000515082,;GABRA2,stop_gained,p.Tyr252Ter,ENST00000507069,;GABRA2,stop_gained,p.Tyr21Ter,ENST00000514236,;GABRA2,3_prime_UTR_variant,,ENST00000630416,;GABRA2,3_prime_UTR_variant,,ENST00000510233,;GABRA2,intron_variant,,ENST00000513005,;GABRA2,downstream_gene_variant,,ENST00000514193,;	T	ENST00000510861	Transcript	stop_gained	930/3411	756/1356	252/451	Y/*	taT/taA		1		-1	GABRA2	HGNC	HGNC:4076	protein_coding	YES	CCDS3471.1	ENSP00000421828	P47869	A0A024R9X6	UPI000013DC88				8/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF218,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:SSF90112,Prints_domain:PR00252																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	81	46303560	46303560	A	T	1	0	0	0	0	0	1	0	0	6032	108	4	4		4	GABRA2	4	46303560	Nonsense_Mutation	SNP	A	C3N-01489_TP	238002	46303560	143910995	208	26754											
GABRA2	0	.	GRCh38	chr4	46303612	46303612	+	Missense_Mutation	SNP	C	C	A																															ctgtcattacagtatattcaCctggaagaaaaatttaagaa																										C3N-01489_TP	C3N-01489_NB	C	C																c.704G>T	p.Gly235Val	p.G235V	ENST00000510861	8/10	91	72	19	113	113	0	strelka-varscan-mutect	GABRA2,missense_variant,p.Gly235Val,ENST00000510861,;GABRA2,missense_variant,p.Gly235Val,ENST00000514090,;GABRA2,missense_variant,p.Gly235Val,ENST00000356504,NM_001114175.1;GABRA2,missense_variant,p.Gly151Val,ENST00000540012,NM_001286827.1;GABRA2,missense_variant,p.Gly235Val,ENST00000381620,NM_000807.2;GABRA2,missense_variant,p.Gly235Val,ENST00000515082,;GABRA2,missense_variant,p.Gly235Val,ENST00000507069,;GABRA2,missense_variant,p.Arg159Ser,ENST00000510233,;GABRA2,missense_variant,p.Gly4Val,ENST00000514236,;GABRA2,splice_region_variant,,ENST00000630416,;GABRA2,intron_variant,,ENST00000513005,;GABRA2,downstream_gene_variant,,ENST00000514193,;	A	ENST00000510861	Transcript	missense_variant,splice_region_variant	878/3411	704/1356	235/451	G/V	gGt/gTt	COSM1618862,COSM4754292,COSM4754293,COSM4780911	1		-1	GABRA2	HGNC	HGNC:4076	protein_coding	YES	CCDS3471.1	ENSP00000421828	P47869	A0A024R9X6	UPI000013DC88		deleterious(0)		8/10		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF218,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932,Prints_domain:PR01079											1,1,1,1						MODERATE	1	SNV	5		1,1,1,1	1										PASS		.	.												A	3	1	81	46303612	46303612	C	A	1	0	0	0	0	1	0	0	0	6032	521	18	2		2	GABRA2	4	46303612	Missense_Mutation	SNP	C	C3N-01489_TP	52	46303612	143910943	209	26755	569	2									
GABRA2	0	.	GRCh38	chr4	46303613	46303613	+	Splice_Site	SNP	C	C	A																															tgtcattacagtatattcacCtggaagaaaaatttaagaag																										C3N-01489_TP	C3N-01489_NB	C	C																c.704-1G>T		p.X235_splice	ENST00000510861		91	72	19	113	113	0	strelka-varscan-mutect	GABRA2,splice_acceptor_variant,,ENST00000510861,;GABRA2,splice_acceptor_variant,,ENST00000514090,;GABRA2,splice_acceptor_variant,,ENST00000356504,NM_001114175.1;GABRA2,splice_acceptor_variant,,ENST00000540012,NM_001286827.1;GABRA2,splice_acceptor_variant,,ENST00000381620,NM_000807.2;GABRA2,splice_acceptor_variant,,ENST00000515082,;GABRA2,splice_acceptor_variant,,ENST00000507069,;GABRA2,splice_acceptor_variant,,ENST00000630416,;GABRA2,splice_acceptor_variant,,ENST00000510233,;GABRA2,splice_acceptor_variant,,ENST00000514236,;GABRA2,intron_variant,,ENST00000513005,;GABRA2,downstream_gene_variant,,ENST00000514193,;	A	ENST00000510861	Transcript	splice_acceptor_variant	-/3411	704/1356	235/451			COSM1540365,COSM5573125	1		-1	GABRA2	HGNC	HGNC:4076	protein_coding	YES	CCDS3471.1	ENSP00000421828	P47869	A0A024R9X6	UPI000013DC88					7/9												1,1						HIGH	1	SNV	5		1,1	1										PASS		.	.												A	5	1	81	46303613	46303613	C	A	1	0	0	0	0	0	0	1	0	6032	695	24	2		2	GABRA2	4	46303613	Splice_Site	SNP	C	C3N-01489_TP	1	46303613	143910942	210	26756	569	2									
GABRA4	0	.	GRCh38	chr4	46928582	46928582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgcatttgcacggctGaatgggtttggactggaagc	8	11	14	8	1	1	1	1	1	0	0	1	3	1	3	0	4	4	5	0	4	2	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1308C>A	p.Phe436Leu	p.F436L	ENST00000264318	9/9	249	217	32	322	322	0	strelka-varscan-mutect	GABRA4,missense_variant,p.Phe436Leu,ENST00000264318,NM_000809.3,NM_001204266.1;GABRA4,3_prime_UTR_variant,,ENST00000508560,;GABRA4,3_prime_UTR_variant,,ENST00000511523,;	T	ENST00000264318	Transcript	missense_variant	2291/11973	1308/1665	436/554	F/L	ttC/ttA		1		-1	GABRA4	HGNC	HGNC:4078	protein_coding	YES	CCDS3473.1	ENSP00000264318	P48169	X5D7F5	UPI0000074200	NM_000809.3,NM_001204266.1	tolerated_low_confidence(0.3)		9/9		TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Prints_domain:PR01617																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	46928582	46928582	G	T	1	0	0	0	0	1	0	0	0	6034	1281	45	2		2	GABRA4	4	46928582	Missense_Mutation	SNP	G	C3N-01489_TP	624969	46928582	143285973	211	26757											
CORIN	0	.	GRCh38	chr4	47744470	47744470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgctttcagtttggtttCtaaactgggagcatctgagg	7	15	12	7	0	3	1	1	1	2	0	3	2	3	2	0	3	4	5	0	3	2	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.731G>A	p.Arg244Lys	p.R244K	ENST00000273857	5/22	232	207	25	256	256	0	strelka-varscan-mutect	CORIN,missense_variant,p.Arg244Lys,ENST00000273857,NM_006587.3;CORIN,missense_variant,p.Arg177Lys,ENST00000610355,NM_001278585.1;CORIN,missense_variant,p.Arg105Lys,ENST00000508498,;CORIN,missense_variant,p.Arg177Lys,ENST00000502252,;CORIN,missense_variant,p.Arg244Lys,ENST00000505909,;CORIN,missense_variant,p.Arg244Lys,ENST00000504584,NM_001278586.1;CORIN,non_coding_transcript_exon_variant,,ENST00000502726,;CORIN,non_coding_transcript_exon_variant,,ENST00000503821,;	T	ENST00000273857	Transcript	missense_variant	731/4852	731/3129	244/1042	R/K	aGa/aAa		1		-1	CORIN	HGNC	HGNC:19012	protein_coding	YES	CCDS3477.1	ENSP00000273857	Q9Y5Q5		UPI0000168657	NM_006587.3	tolerated(0.61)		5/22		Gene3D:1ijyA00,Pfam_domain:PF01392,PIRSF_domain:PIRSF036376,PROSITE_profiles:PS50038,hmmpanther:PTHR24270,SMART_domains:SM00063,Superfamily_domains:SSF63501																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	47744470	47744470	C	T	1	0	0	0	0	1	0	0	0	3546	913	32	3		3	CORIN	4	47744470	Missense_Mutation	SNP	C	C3N-01489_TP	815888	47744470	142470085	212	26758											
LRRC66	0	.	GRCh38	chr4	51994518	51994518	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagtgagcaatgccattctGctgccttggattgaagagct	10	12	11	8	0	1	3	0	2	1	1	1	4	1	4	2	1	5	3	2	1	3	4	rs758354405		C3N-01489_TP	C3N-01489_NB	G	G																c.2504C>G	p.Ala835Gly	p.A835G	ENST00000343457	4/4	469	440	29	416	416	0	strelka-varscan-mutect	LRRC66,missense_variant,p.Ala835Gly,ENST00000343457,NM_001024611.1;	C	ENST00000343457	Transcript	missense_variant	2511/3327	2504/2643	835/880	A/G	gCa/gGa	rs758354405	1		-1	LRRC66	HGNC	HGNC:34299	protein_coding	YES	CCDS43229.1	ENSP00000341944	Q68CR7		UPI0000425C5B	NM_001024611.1	deleterious(0.03)		4/4																			MODERATE	1	SNV	1			1										PASS		rs758354405	.												C	3	2	81	51994518	51994518	G	C	1	0	0	0	0	1	0	0	0	8914	1319	46	4		4	LRRC66	4	51994518	Missense_Mutation	SNP	G	C3N-01489_TP	4250048	51994518	138220037	213	26759											
SULT1E1	0	.	GRCh38	chr4	69847712	69847712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcacctctttcaggtcttCgtagaaaagaaatagtacac	13	11	6	11	1	4	2	2	0	2	2	5	2	4	2	2	1	1	2	2	1	6	5	rs769456468		C3N-01489_TP	C3N-01489_NB	C	C																c.577G>A	p.Glu193Lys	p.E193K	ENST00000226444	6/8	88	82	6	155	155	0	strelka-varscan-mutect	SULT1E1,missense_variant,p.Glu193Lys,ENST00000226444,NM_005420.2;SULT1E1,missense_variant,p.Glu26Lys,ENST00000506796,;SULT1E1,downstream_gene_variant,,ENST00000504002,;	T	ENST00000226444	Transcript	missense_variant	690/1780	577/885	193/294	E/K	Gaa/Aaa	rs769456468,COSM1671053	1		-1	SULT1E1	HGNC	HGNC:11377	protein_coding	YES	CCDS3531.1	ENSP00000226444	P49888	Q53X91	UPI00000623C8	NM_005420.2	deleterious(0)		6/8		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF53,Superfamily_domains:SSF52540											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs769456468	.												T	3	4	81	69847712	69847712	C	T	1	0	0	0	0	1	0	0	0	15766	893	31	1		1	SULT1E1	4	69847712	Missense_Mutation	SNP	C	C3N-01489_TP	17853194	69847712	120366843	214	26760											
PPEF2	0	.	GRCh38	chr4	75876364	75876364	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaggctgagcgggagggctCctctttctctccggtcacca	5	10	13	13	2	3	2	1	2	2	0	6	3	5	3	3	4	1	2	3	4	0	1			C3N-01489_TP	C3N-01489_NB	C	C																c.1243G>T	p.Glu415Ter	p.E415*	ENST00000286719	11/17	95	79	16	170	169	1	strelka-mutect	PPEF2,stop_gained,p.Glu415Ter,ENST00000286719,NM_006239.2;PPEF2,stop_gained,p.Glu415Ter,ENST00000621010,;PPEF2,3_prime_UTR_variant,,ENST00000511880,;	A	ENST00000286719	Transcript	stop_gained	1600/3414	1243/2262	415/753	E/*	Gag/Tag	COSM588553	1		-1	PPEF2	HGNC	HGNC:9244	protein_coding	YES	CCDS34013.1	ENSP00000286719	O14830		UPI0000163923	NM_006239.2			11/17		PIRSF_domain:PIRSF000912,SMART_domains:SM00156											1						HIGH	1	SNV	1		1	1										PASS		rs1450302356	.												A	4	1	81	75876364	75876364	C	A	1	0	0	0	0	0	1	0	0	12417	864	30	2		2	PPEF2	4	75876364	Nonsense_Mutation	SNP	C	C3N-01489_TP	6028652	75876364	114338191	215	26761											
PRDM8	0	.	GRCh38	chr4	80200216	80200216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatatttggtccctgtgtcCtgagccatacttccctatat	7	16	6	12	0	0	1	0	1	0	0	3	1	3	1	4	1	2	0	4	1	5	7	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.136C>A	p.Leu46Met	p.L46M	ENST00000339711	8/10	282	246	36	539	539	0	strelka-varscan-mutect	PRDM8,missense_variant,p.Leu46Met,ENST00000339711,NM_020226.3;PRDM8,missense_variant,p.Leu46Met,ENST00000504452,;PRDM8,missense_variant,p.Leu46Met,ENST00000415738,NM_001099403.1;PRDM8,missense_variant,p.Leu46Met,ENST00000515013,;PRDM8,downstream_gene_variant,,ENST00000508061,;PRDM8,downstream_gene_variant,,ENST00000511825,;PRDM8,downstream_gene_variant,,ENST00000508965,;PRDM8,downstream_gene_variant,,ENST00000507025,;PRDM8,downstream_gene_variant,,ENST00000509375,;PRDM8,downstream_gene_variant,,ENST00000506547,;	A	ENST00000339711	Transcript	missense_variant	1367/4095	136/2070	46/689	L/M	Ctg/Atg		1		1	PRDM8	HGNC	HGNC:13993	protein_coding	YES	CCDS43243.1	ENSP00000339764	Q9NQV8	A0A024RDC4	UPI0000422A1D	NM_020226.3	deleterious(0)		8/10		Gene3D:2.170.270.10,PROSITE_profiles:PS50280,hmmpanther:PTHR16516,hmmpanther:PTHR16516:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	80200216	80200216	C	A	1	0	0	0	0	1	0	0	0	12594	680	24	2		2	PRDM8	4	80200216	Missense_Mutation	SNP	C	C3N-01489_TP	4323852	80200216	110014339	216	26762											
HERC3	0	.	GRCh38	chr4	88654133	88654133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacagcagttctcacaaaGgtaaggagctcagagtattt	14	9	9	9	0	2	1	2	0	1	1	3	2	2	2	0	2	2	5	0	2	3	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.777G>T	p.Lys259Asn	p.K259N	ENST00000402738	7/26	98	83	15	141	141	0	strelka-varscan-mutect	HERC3,missense_variant,p.Lys259Asn,ENST00000402738,NM_014606.2,NM_001271602.1;HERC3,missense_variant,p.Lys259Asn,ENST00000264345,;HERC3,missense_variant,p.Lys259Asn,ENST00000407637,NM_001318505.1;HERC3,downstream_gene_variant,,ENST00000452979,;HERC3,downstream_gene_variant,,ENST00000431413,;HERC3,downstream_gene_variant,,ENST00000513325,;HERC3,downstream_gene_variant,,ENST00000422770,;HERC3,downstream_gene_variant,,ENST00000426683,;HERC3,upstream_gene_variant,,ENST00000470815,;	T	ENST00000402738	Transcript	missense_variant,splice_region_variant	1016/4974	777/3153	259/1050	K/N	aaG/aaT		1		1	HERC3	HGNC	HGNC:4876	protein_coding	YES	CCDS34028.1	ENSP00000385684	Q15034		UPI000012C614	NM_014606.2,NM_001271602.1	tolerated(0.16)		7/26		PROSITE_profiles:PS50012,hmmpanther:PTHR11254:SF335,hmmpanther:PTHR11254,Gene3D:2.130.10.30,Superfamily_domains:SSF50985,Prints_domain:PR00633																	MODERATE	1	SNV	1			1										PASS		rs1334614738	.												T	3	4	81	88654133	88654133	G	T	1	0	0	0	0	1	0	0	0	6943	1014	35	2		2	HERC3	4	88654133	Missense_Mutation	SNP	G	C3N-01489_TP	8453917	88654133	101560422	217	26763											
TIGD2	0	.	GRCh38	chr4	89113853	89113853	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagtgcttcttttagatttCcccccagcacgtccaaatga	9	12	7	13	1	1	2	0	1	1	1	3	2	3	2	4	0	2	3	4	0	2	4	rs754328555		C3N-01489_TP	C3N-01489_NB	C	C																c.879C>T	p.=	p.F293F	ENST00000603357	2/2	139	122	17	262	262	0	strelka-varscan-mutect	TIGD2,synonymous_variant,p.=,ENST00000603357,;TIGD2,synonymous_variant,p.=,ENST00000317005,NM_145715.2;FAM13A,upstream_gene_variant,,ENST00000502459,;	T	ENST00000603357	Transcript	synonymous_variant	2171/3217	879/1578	293/525	F	ttC/ttT	rs754328555,COSM3918341	1		1	TIGD2	HGNC	HGNC:18333	protein_coding	YES	CCDS3633.1	ENSP00000486687	Q4W5G0	V9HWD1	UPI000013FF3C				2/2		hmmpanther:PTHR19303:SF220,hmmpanther:PTHR19303,Pfam_domain:PF03184											0,1						LOW	1	SNV	4		0,1	1										PASS		.	.												T	2	4	81	89113853	89113853	C	T	1	0	0	0	0	0	0	0	1	16334	854	30	3		3	TIGD2	4	89113853	Silent	SNP	C	C3N-01489_TP	459720	89113853	101100702	218	26764											
UNC5C	0	.	GRCh38	chr4	95169391	95169391	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatttggtggcaaagtaaTtcaagtacctgtaattggga	12	13	12	4	0	1	0	1	0	0	0	1	2	1	2	1	4	1	4	1	4	5	6	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.2639A>G	p.Asn880Ser	p.N880S	ENST00000453304	16/16	62	58	4	112	112	0	varscan-mutect	UNC5C,missense_variant,p.Asn880Ser,ENST00000453304,NM_003728.3;UNC5C,missense_variant,p.Asn839Ser,ENST00000610318,;	C	ENST00000453304	Transcript	missense_variant	2988/9875	2639/2796	880/931	N/S	aAt/aGt		1		-1	UNC5C	HGNC	HGNC:12569	protein_coding	YES	CCDS3643.1	ENSP00000406022	O95185		UPI000004E6A5	NM_003728.3	tolerated(0.79)		16/16		Gene3D:1.10.533.10,Pfam_domain:PF00531,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7,SMART_domains:SM00005,Superfamily_domains:SSF47986																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	95169391	95169391	T	C	1	0	0	0	0	1	0	0	0	17517	1493	52	5		5	UNC5C	4	95169391	Missense_Mutation	SNP	T	C3N-01489_TP	6055538	95169391	95045164	219	26765											
C4orf17	0	.	GRCh38	chr4	99522652	99522652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagtccaggagagccctGtaagaggaatgtcgccagcc	10	6	13	12	1	0	2	0	0	0	2	2	4	1	3	4	2	3	2	4	2	2	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.280G>T	p.Val94Leu	p.V94L	ENST00000326581	3/9	224	185	39	392	390	2	strelka-varscan-mutect	C4orf17,missense_variant,p.Val94Leu,ENST00000514652,;C4orf17,missense_variant,p.Val94Leu,ENST00000326581,NM_032149.2;C4orf17,non_coding_transcript_exon_variant,,ENST00000503257,;C4orf17,missense_variant,p.Val94Leu,ENST00000477187,;	T	ENST00000326581	Transcript	missense_variant	642/1636	280/1080	94/359	V/L	Gta/Tta		1		1	C4orf17	HGNC	HGNC:25274	protein_coding	YES	CCDS3649.1	ENSP00000322582	Q53FE4		UPI0000141987	NM_032149.2	tolerated(0.18)		3/9		Pfam_domain:PF15256,hmmpanther:PTHR33772,hmmpanther:PTHR33772:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	99522652	99522652	G	T	1	0	0	0	0	1	0	0	0	2078	1377	48	2		2	C4orf17	4	99522652	Missense_Mutation	SNP	G	C3N-01489_TP	4353261	99522652	90691903	220	26766											
DKK2	0	.	GRCh38	chr4	106924179	106924179	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaatgcagtctgatgaTcgtaggcaggggtctccttc	7	12	11	11	1	3	2	1	2	2	0	6	2	3	2	2	3	1	3	2	3	2	3	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.555A>G	p.=	p.R185R	ENST00000285311	4/4	157	147	10	278	278	0	strelka-varscan-mutect	DKK2,synonymous_variant,p.=,ENST00000285311,NM_014421.2;DKK2,synonymous_variant,p.=,ENST00000513208,;DKK2,synonymous_variant,p.=,ENST00000510463,;DKK2,non_coding_transcript_exon_variant,,ENST00000510534,;	C	ENST00000285311	Transcript	synonymous_variant	1261/3638	555/780	185/259	R	cgA/cgG		1		-1	DKK2	HGNC	HGNC:2892	protein_coding	YES	CCDS3675.1	ENSP00000285311	Q9UBU2		UPI0000048EF2	NM_014421.2			4/4		hmmpanther:PTHR12113:SF12,hmmpanther:PTHR12113,Gene3D:2.10.80.10																	LOW	1	SNV	1			1										PASS		rs1405642897	.												C	2	2	81	106924179	106924179	T	C	1	0	0	0	0	0	0	0	1	4351	1422	50	5		5	DKK2	4	106924179	Silent	SNP	T	C3N-01489_TP	7401527	106924179	83290376	221	26767											
NDST4	0	.	GRCh38	chr4	114970571	114970571	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaggtcatctccttcatcTtcctcttcagtccctttaaa	10	15	3	13	0	6	0	3	0	3	0	9	0	8	0	3	1	0	0	3	1	4	5	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.1080A>T	p.Glu360Asp	p.E360D	ENST00000264363	4/14	80	75	5	133	133	0	varscan-mutect	NDST4,missense_variant,p.Glu360Asp,ENST00000264363,NM_022569.1;NDST4,5_prime_UTR_variant,,ENST00000613194,;NDST4,5_prime_UTR_variant,,ENST00000504854,;NDST4,non_coding_transcript_exon_variant,,ENST00000514570,;	A	ENST00000264363	Transcript	missense_variant	1759/3351	1080/2619	360/872	E/D	gaA/gaT		1		-1	NDST4	HGNC	HGNC:20779	protein_coding	YES	CCDS3706.1	ENSP00000264363	Q9H3R1		UPI000006CED7	NM_022569.1	deleterious(0)		4/14		Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF45,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1376335163	.												A	3	1	81	114970571	114970571	T	A	1	0	0	0	0	1	0	0	0	10279	1606	56	4		4	NDST4	4	114970571	Missense_Mutation	SNP	T	C3N-01489_TP	8046392	114970571	75243984	222	26768											
TRPC3	0	.	GRCh38	chr4	121932326	121932326	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcgttgctgagctctaggGccgtaagcaccgggtcctcg	5	9	14	13	4	1	1	0	1	1	0	4	1	2	1	3	2	3	6	3	2	2	3			C3N-01489_TP	C3N-01489_NB	G	G																c.932C>G	p.Ala311Gly	p.A311G	ENST00000379645	2/12	147	137	10	254	254	0	strelka-varscan-mutect	TRPC3,missense_variant,p.Ala238Gly,ENST00000264811,NM_003305.2;TRPC3,missense_variant,p.Ala311Gly,ENST00000379645,NM_001130698.1;TRPC3,missense_variant,p.Ala238Gly,ENST00000513531,;TRPC3,downstream_gene_variant,,ENST00000502968,;TRPC3,missense_variant,p.Ala238Gly,ENST00000506449,;	C	ENST00000379645	Transcript	missense_variant	1006/3548	932/2766	311/921	A/G	gCc/gGc	COSM3599665,COSM3599666	1		-1	TRPC3	HGNC	HGNC:12335	protein_coding	YES	CCDS47130.1	ENSP00000368966	Q13507		UPI00004C6F61	NM_001130698.1	deleterious(0)		2/12		hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870,Pfam_domain:PF08344											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	81	121932326	121932326	G	C	1	0	0	0	0	1	0	0	0	17084	1203	42	4		4	TRPC3	4	121932326	Missense_Mutation	SNP	G	C3N-01489_TP	6961755	121932326	68282229	223	26769											
FAT4	0	.	GRCh38	chr4	125319839	125319839	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattcttttgaaatggtgcAgccagattttgagttgcatg	9	16	11	5	0	1	3	0	2	1	1	1	3	1	3	1	1	3	4	1	1	2	7	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.3428A>T	p.Gln1143Leu	p.Q1143L	ENST00000394329	1/17	113	97	16	173	173	0	strelka-varscan-mutect	FAT4,missense_variant,p.Gln1143Leu,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;	T	ENST00000394329	Transcript	missense_variant	3441/16123	3428/14946	1143/4981	Q/L	cAg/cTg		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	deleterious(0.03)		1/17		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	125319839	125319839	A	T	1	0	0	0	0	1	0	0	0	5552	188	7	4		4	FAT4	4	125319839	Missense_Mutation	SNP	A	C3N-01489_TP	3387513	125319839	64894716	224	26770											
GAB1	0	.	GRCh38	chr4	143460434	143460434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagcagtgactcacacGacagtgaagagaattatgtt	14	10	9	8	1	2	3	2	2	0	1	2	5	2	3	0	0	1	2	0	0	4	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1840G>T	p.Asp614Tyr	p.D614Y	ENST00000262995	9/11	247	229	18	326	326	0	strelka-varscan-mutect	GAB1,missense_variant,p.Asp614Tyr,ENST00000262995,NM_207123.2;GAB1,missense_variant,p.Asp584Tyr,ENST00000262994,NM_002039.3;GAB1,missense_variant,p.Asp481Tyr,ENST00000505913,;GAB1,intron_variant,,ENST00000512843,;GAB1,non_coding_transcript_exon_variant,,ENST00000508833,;GAB1,downstream_gene_variant,,ENST00000507070,;GAB1,downstream_gene_variant,,ENST00000510615,;	T	ENST00000262995	Transcript	missense_variant	2267/7981	1840/2175	614/724	D/Y	Gac/Tac		1		1	GAB1	HGNC	HGNC:4066	protein_coding	YES	CCDS3760.1	ENSP00000262995	Q13480		UPI0000232A33	NM_207123.2	deleterious(0)		9/11		Low_complexity_(Seg):seg,hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF18																	MODERATE	1	SNV	1			1										PASS		rs1294424013	.												T	3	4	81	143460434	143460434	G	T	1	0	0	0	0	1	0	0	0	6019	1058	37	1		1	GAB1	4	143460434	Missense_Mutation	SNP	G	C3N-01489_TP	18140595	143460434	46754121	225	26771											
ZNF827	0	.	GRCh38	chr4	145774641	145774641	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgacaaactggacatTgagctcggtctcaaatccac	11	9	10	11	1	1	2	1	2	1	0	4	3	2	3	1	3	2	2	1	3	2	1	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.2725A>T	p.Asn909Tyr	p.N909Y	ENST00000508784	11/15	114	98	16	177	177	0	strelka-varscan-mutect	ZNF827,missense_variant,p.Asn909Tyr,ENST00000508784,NM_001306215.1;ZNF827,missense_variant,p.Asn909Tyr,ENST00000379448,NM_178835.3;ZNF827,missense_variant,p.Asn559Tyr,ENST00000513320,;ZNF827,missense_variant,p.Asn10Tyr,ENST00000511659,;C4orf51,downstream_gene_variant,,ENST00000510096,;ZNF827,upstream_gene_variant,,ENST00000515386,;	A	ENST00000508784	Transcript	missense_variant	2953/7463	2725/3246	909/1081	N/Y	Aat/Tat		1		-1	ZNF827	HGNC	HGNC:27193	protein_coding	YES	CCDS77968.1	ENSP00000421863	Q17R98		UPI0000DA58F8	NM_001306215.1	deleterious(0.01)		11/15		hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4,SMART_domains:SM00355																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	145774641	145774641	T	A	1	0	0	0	0	1	0	0	0	18766	1812	63	4		4	ZNF827	4	145774641	Missense_Mutation	SNP	T	C3N-01489_TP	2314207	145774641	44439914	226	26772											
SLC10A7	0	.	GRCh38	chr4	146517107	146517107	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtaggatacagttatttcTggcttcagtggtcctaaaaa	12	14	9	6	0	2	0	1	0	1	0	3	1	3	1	1	3	1	3	1	3	6	6	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.114A>T	p.=	p.P38P	ENST00000507030	2/13	78	69	9	129	129	0	strelka-varscan-mutect	SLC10A7,synonymous_variant,p.=,ENST00000432059,NM_001317816.1;SLC10A7,synonymous_variant,p.=,ENST00000335472,NM_001029998.4;SLC10A7,synonymous_variant,p.=,ENST00000394059,NM_032128.3;SLC10A7,synonymous_variant,p.=,ENST00000502607,NM_001317818.1;SLC10A7,synonymous_variant,p.=,ENST00000507030,NM_001300842.1;SLC10A7,synonymous_variant,p.=,ENST00000511374,;SLC10A7,non_coding_transcript_exon_variant,,ENST00000511315,;SLC10A7,non_coding_transcript_exon_variant,,ENST00000507560,;	A	ENST00000507030	Transcript	synonymous_variant	114/1134	114/1077	38/358	P	ccA/ccT		1		-1	SLC10A7	HGNC	HGNC:23088	protein_coding	YES	CCDS75198.1	ENSP00000421275	Q0GE19		UPI0000DD5C53	NM_001300842.1			2/13		hmmpanther:PTHR18640,PIRSF_domain:PIRSF026166,Pfam_domain:PF13593																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	146517107	146517107	T	A	1	0	0	0	0	0	0	0	1	14644	1567	55	4		4	SLC10A7	4	146517107	Silent	SNP	T	C3N-01489_TP	742466	146517107	43697448	227	26773											
POU4F2	0	.	GRCh38	chr4	146640206	146640206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctatggcgggccccgacGgcgctgtggtgtccacgccg	3	6	17	15	7	0	0	0	0	0	0	1	1	1	0	4	4	0	2	4	4	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.628G>T	p.Gly210Cys	p.G210C	ENST00000281321	2/2	111	101	10	185	184	1	strelka-varscan-mutect	POU4F2,missense_variant,p.Gly210Cys,ENST00000281321,NM_004575.2;	T	ENST00000281321	Transcript	missense_variant	876/3144	628/1230	210/409	G/C	Ggc/Tgc		1		1	POU4F2	HGNC	HGNC:9219	protein_coding	YES	CCDS34074.1	ENSP00000281321	Q12837		UPI000013DC6C	NM_004575.2	deleterious(0.01)		2/2		hmmpanther:PTHR11636:SF41,hmmpanther:PTHR11636																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	146640206	146640206	G	T	1	0	0	0	0	1	0	0	0	12395	1116	39	1		1	POU4F2	4	146640206	Missense_Mutation	SNP	G	C3N-01489_TP	123099	146640206	43574349	228	26774											
DCLK2	0	.	GRCh38	chr4	150102785	150102785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagactcaggagtcgtcaaGaggctctgcaccctggatgg	9	8	13	11	1	3	2	2	0	1	2	4	4	3	4	1	4	1	2	1	4	2	1			C3N-01489_TP	C3N-01489_NB	G	G																c.729G>T	p.Lys243Asn	p.K243N	ENST00000302176	2/17	71	60	11	129	129	0	strelka-varscan-mutect	DCLK2,missense_variant,p.Lys243Asn,ENST00000296550,NM_001040260.3;DCLK2,missense_variant,p.Lys243Asn,ENST00000302176,NM_001040261.4;DCLK2,missense_variant,p.Lys243Asn,ENST00000506325,;DCLK2,missense_variant,p.Lys243Asn,ENST00000635524,;DCLK2,missense_variant,p.Lys243Asn,ENST00000411937,;	T	ENST00000302176	Transcript	missense_variant	729/3543	729/2352	243/783	K/N	aaG/aaT	COSM3127429,COSM3127430	1		1	DCLK2	HGNC	HGNC:19002	protein_coding	YES	CCDS47142.2	ENSP00000303887	Q8N568		UPI0000D615C9	NM_001040261.4	deleterious(0)		2/17		PROSITE_profiles:PS50309,hmmpanther:PTHR24347:SF122,hmmpanther:PTHR24347,Pfam_domain:PF03607,Gene3D:1mfwA00,SMART_domains:SM00537,Superfamily_domains:SSF89837											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1009660569	.												T	3	4	81	150102785	150102785	G	T	1	0	0	0	0	1	0	0	0	4094	933	33	2		2	DCLK2	4	150102785	Missense_Mutation	SNP	G	C3N-01489_TP	3462579	150102785	40111770	229	26775											
FBXW7	0	.	GRCh38	chr4	152411569	152411569	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaatctattattgttttCttccaactgtccttgctggg	9	18	6	8	0	2	0	0	0	2	0	4	0	4	0	2	1	2	2	2	1	6	8	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.235G>T	p.Glu79Ter	p.E79*	ENST00000281708	2/12	179	158	21	289	289	0	strelka-varscan-mutect	FBXW7,stop_gained,p.Glu79Ter,ENST00000281708,NM_033632.3;FBXW7,stop_gained,p.Glu79Ter,ENST00000603548,;FBXW7,stop_gained,p.Glu79Ter,ENST00000603841,;FBXW7,stop_gained,p.Glu79Ter,ENST00000604872,NM_001257069.1;FBXW7,stop_gained,p.Glu79Ter,ENST00000605042,;	A	ENST00000281708	Transcript	stop_gained	1465/4976	235/2124	79/707	E/*	Gaa/Taa		1		-1	FBXW7	HGNC	HGNC:16712	protein_coding	YES	CCDS3777.1	ENSP00000281708	Q969H0		UPI000007007E	NM_033632.3			2/12																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	81	152411569	152411569	C	A	1	0	0	0	0	0	1	0	0	5632	922	32	2		2	FBXW7	4	152411569	Nonsense_Mutation	SNP	C	C3N-01489_TP	2308784	152411569	37802986	230	26776											
TIGD4	0	.	GRCh38	chr4	152770251	152770251	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccattctgttagcttcatAacacacaggcaatgatttta	12	14	6	9	0	2	1	1	1	1	0	2	1	2	1	1	1	3	3	1	1	4	6	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.754T>C	p.Tyr252His	p.Y252H	ENST00000304337	2/2	156	145	11	317	317	0	strelka-varscan-mutect	TIGD4,missense_variant,p.Tyr252His,ENST00000304337,NM_145720.3;	G	ENST00000304337	Transcript	missense_variant	1575/2472	754/1539	252/512	Y/H	Tat/Cat		1		-1	TIGD4	HGNC	HGNC:18335	protein_coding	YES	CCDS34079.1	ENSP00000355162	Q8IY51		UPI000013E966	NM_145720.3	deleterious(0)		2/2		hmmpanther:PTHR19303:SF204,hmmpanther:PTHR19303,Pfam_domain:PF03184																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	152770251	152770251	A	G	1	0	0	0	0	1	0	0	0	16336	362	13	5		5	TIGD4	4	152770251	Missense_Mutation	SNP	A	C3N-01489_TP	358682	152770251	37444304	231	26777											
DCHS2	0	.	GRCh38	chr4	154255570	154255570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgcttttgttgttatcacaCcactcagtgcatcaatctgg	8	15	7	11	1	4	0	3	0	1	0	5	0	4	0	1	1	1	4	1	1	2	4	rs116814307		C3N-01489_TP	C3N-01489_NB	C	C																c.5525G>T	p.Gly1842Val	p.G1842V	ENST00000623607	21/25	194	177	17	269	269	0	strelka-varscan-mutect	DCHS2,missense_variant,p.Gly1842Val,ENST00000357232,;DCHS2,missense_variant,p.Gly1842Val,ENST00000623607,NM_017639.3;RP11-290O12.2,intron_variant,,ENST00000624941,;RP11-290O12.2,intron_variant,,ENST00000623325,;DCHS2,downstream_gene_variant,,ENST00000623568,;	A	ENST00000623607	Transcript	missense_variant	5525/8912	5525/8751	1842/2916	G/V	gGt/gTt	rs116814307	1		-1	DCHS2	HGNC	HGNC:23111	protein_coding	YES	CCDS3785.1	ENSP00000485514	Q6V1P9		UPI000035B018	NM_017639.3	deleterious(0)		21/25		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF305,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs116814307	.												A	3	1	81	154255570	154255570	C	A	1	0	0	0	0	1	0	0	0	4091	507	18	2		2	DCHS2	4	154255570	Missense_Mutation	SNP	C	C3N-01489_TP	1485319	154255570	35958985	232	26778											
GLRB	0	.	GRCh38	chr4	157138892	157138892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattgccttgcctcaatttGatatcaaaaaggaagatatt	16	13	6	6	0	2	2	2	1	0	1	2	3	2	3	2	1	2	0	2	1	7	6	rs866839956		C3N-01489_TP	C3N-01489_NB	G	G																c.694G>A	p.Asp232Asn	p.D232N	ENST00000264428	7/10	112	102	10	196	195	1	strelka-varscan	GLRB,missense_variant,p.Asp232Asn,ENST00000264428,NM_000824.4;GLRB,missense_variant,p.Asp232Asn,ENST00000541722,NM_001166061.1;GLRB,missense_variant,p.Asp232Asn,ENST00000509282,NM_001166060.1;GLRB,intron_variant,,ENST00000512619,;GLRB,non_coding_transcript_exon_variant,,ENST00000510970,;GLRB,downstream_gene_variant,,ENST00000506411,;GLRB,downstream_gene_variant,,ENST00000515642,;	A	ENST00000264428	Transcript	missense_variant	964/3126	694/1494	232/497	D/N	Gat/Aat	rs866839956,COSM1695149	1		1	GLRB	HGNC	HGNC:4329	protein_coding	YES	CCDS3796.1	ENSP00000264428	P48167		UPI000000161E	NM_000824.4	tolerated(0.37)		7/10		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF29,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	81	157138892	157138892	G	A	1	0	0	0	0	1	0	0	0	6337	1290	45	3		3	GLRB	4	157138892	Missense_Mutation	SNP	G	C3N-01489_TP	2883322	157138892	33075663	233	26779											
WWC2	0	.	GRCh38	chr4	183253972	183253972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagttgctgtctgtgagggGaacaccaagcagagctctgg	10	8	15	8	0	2	3	0	1	2	2	2	4	2	4	1	3	4	4	1	3	2	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1169G>T	p.Gly390Val	p.G390V	ENST00000403733	9/23	98	89	9	157	157	0	strelka-varscan-mutect	WWC2,missense_variant,p.Gly390Val,ENST00000403733,NM_024949.5;WWC2,missense_variant,p.Gly390Val,ENST00000448232,;WWC2,missense_variant,p.Gly72Val,ENST00000504005,;WWC2,missense_variant,p.Gly390Val,ENST00000513834,;WWC2,missense_variant,p.Gly292Val,ENST00000438543,;WWC2,3_prime_UTR_variant,,ENST00000427431,;	T	ENST00000403733	Transcript	missense_variant	1368/8826	1169/3579	390/1192	G/V	gGa/gTa		1		1	WWC2	HGNC	HGNC:24148	protein_coding	YES	CCDS34109.2	ENSP00000384222	Q6AWC2		UPI000022C4C2	NM_024949.5	deleterious(0.04)		9/23		hmmpanther:PTHR14791:SF26,hmmpanther:PTHR14791,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	183253972	183253972	G	T	1	0	0	0	0	1	0	0	0	17970	1174	41	2		2	WWC2	4	183253972	Missense_Mutation	SNP	G	C3N-01489_TP	26115080	183253972	6960583	234	26780											
PLEKHG4B	0	.	GRCh38	chr5	143218	143218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcaggtgctggacgtcaGtcaggagctgctgcagtccg	8	7	15	11	2	2	0	2	0	0	0	3	2	3	2	1	3	5	5	1	3	1	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.581G>C	p.Ser194Thr	p.S194T	ENST00000283426	2/18	299	202	97	299	299	0	strelka-varscan-mutect	PLEKHG4B,missense_variant,p.Ser550Thr,ENST00000637938,;PLEKHG4B,missense_variant,p.Ser194Thr,ENST00000283426,NM_052909.3;PLEKHG4B,missense_variant,p.Ser108Thr,ENST00000502646,;Y_RNA,downstream_gene_variant,,ENST00000362670,;	C	ENST00000283426	Transcript	missense_variant	631/11515	581/3816	194/1271	S/T	aGt/aCt		1		1	PLEKHG4B	HGNC	HGNC:29399	protein_coding	YES	CCDS34124.1	ENSP00000283426	Q96PX9		UPI0000D615EE	NM_052909.3	tolerated(0.06)		2/18		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF119																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	143218	143218	G	C	1	0	0	0	0	1	0	0	0	12165	1029	36	4		4	PLEKHG4B	5	143218	Missense_Mutation	SNP	G	C3N-01489_TP		143218	181395041	235	26781											
SLC9A3	0	.	GRCh38	chr5	484583	484583	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtaggagatgatgaacAcgaagccgggctcgatgata	14	6	14	7	3	0	4	0	3	0	1	1	7	0	4	1	3	2	2	1	3	4	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.869T>C	p.Val290Ala	p.V290A	ENST00000264938	5/17	322	241	81	322	322	0	strelka-varscan-mutect	SLC9A3,missense_variant,p.Val290Ala,ENST00000264938,NM_004174.2;SLC9A3,missense_variant,p.Val290Ala,ENST00000514375,NM_001284351.1;CTD-2228K2.7,downstream_gene_variant,,ENST00000607286,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606288,;CTD-2228K2.7,downstream_gene_variant,,ENST00000607005,;CTD-2228K2.7,downstream_gene_variant,,ENST00000534918,;CTD-2228K2.7,downstream_gene_variant,,ENST00000606107,;SLC9A3,upstream_gene_variant,,ENST00000507407,;	G	ENST00000264938	Transcript	missense_variant	879/2584	869/2505	290/834	V/A	gTg/gCg		1		-1	SLC9A3	HGNC	HGNC:11073	protein_coding	YES	CCDS3855.1	ENSP00000264938	P48764		UPI000013D597	NM_004174.2	deleterious(0)		5/17		hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF90,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	484583	484583	A	G	1	0	0	0	0	1	0	0	0	14995	159	6	5		5	SLC9A3	5	484583	Missense_Mutation	SNP	A	C3N-01489_TP	341365	484583	181053676	236	26782											
TPPP	0	.	GRCh38	chr5	666002	666002	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgggcgccttgccctCgatgagcctgtgcacctcgc	5	9	13	14	3	0	2	0	2	0	0	2	4	0	2	4	1	3	1	4	1	0	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.433G>T	p.Glu145Ter	p.E145*	ENST00000360578	3/4	160	113	47	216	216	0	strelka-varscan-mutect	TPPP,stop_gained,p.Glu145Ter,ENST00000360578,NM_007030.2;CEP72,non_coding_transcript_exon_variant,,ENST00000514507,;	A	ENST00000360578	Transcript	stop_gained	555/6022	433/660	145/219	E/*	Gag/Tag		1		-1	TPPP	HGNC	HGNC:24164	protein_coding	YES	CCDS3856.1	ENSP00000353785	O94811	Q4L233	UPI0000130FB2	NM_007030.2			3/4		hmmpanther:PTHR12932:SF18,hmmpanther:PTHR12932,Pfam_domain:PF05517,Superfamily_domains:SSF47473																	HIGH	1	SNV	1			1										PASS		rs1248170111	.												A	4	1	81	666002	666002	C	A	1	0	0	0	0	0	1	0	0	16894	893	31	1		1	TPPP	5	666002	Nonsense_Mutation	SNP	C	C3N-01489_TP	181419	666002	180872257	237	26783											
IRX2	0	.	GRCh38	chr5	2748659	2748659	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcgggcagccccggtggcCcgcagcccgggcccaggctc	3	2	16	20	5	0	0	0	0	0	0	1	0	0	0	6	5	2	3	6	5	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1049G>T	p.Gly350Val	p.G350V	ENST00000382611	3/5	200	182	18	190	190	0	strelka-varscan-mutect	IRX2,missense_variant,p.Gly350Val,ENST00000382611,NM_001134222.1;IRX2,missense_variant,p.Gly350Val,ENST00000302057,NM_033267.4;C5orf38,upstream_gene_variant,,ENST00000515640,NM_001306150.1;C5orf38,upstream_gene_variant,,ENST00000334000,NM_001306149.1,NM_178569.3;C5orf38,upstream_gene_variant,,ENST00000397835,;C5orf38,upstream_gene_variant,,ENST00000505778,;C5orf38,upstream_gene_variant,,ENST00000457752,NM_001294337.1;C5orf38,upstream_gene_variant,,ENST00000503940,;C5orf38,upstream_gene_variant,,ENST00000505106,;	A	ENST00000382611	Transcript	missense_variant	1298/2630	1049/1416	350/471	G/V	gGg/gTg		1		-1	IRX2	HGNC	HGNC:14359	protein_coding	YES	CCDS3868.1	ENSP00000372056	Q9BZI1		UPI00001B6456	NM_001134222.1	tolerated(0.25)		3/5		Low_complexity_(Seg):seg,hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	2748659	2748659	C	A	1	0	0	0	0	1	0	0	0	7752	623	22	2		2	IRX2	5	2748659	Missense_Mutation	SNP	C	C3N-01489_TP	2082657	2748659	178789600	238	26784											
IRX1	0	.	GRCh38	chr5	3599347	3599347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccccgggcggcccaagaaCgccacccgcgagagcaccag	10	0	13	18	5	0	2	0	0	0	2	0	4	0	2	6	2	2	1	6	2	2	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.399C>T	p.=	p.N133N	ENST00000302006	2/4	427	388	39	471	471	0	strelka-mutect	IRX1,synonymous_variant,p.=,ENST00000302006,NM_024337.3;CTD-2012M11.3,intron_variant,,ENST00000559410,;	T	ENST00000302006	Transcript	synonymous_variant	451/1858	399/1443	133/480	N	aaC/aaT		1		1	IRX1	HGNC	HGNC:14358	protein_coding	YES	CCDS34132.1	ENSP00000305244	P78414		UPI00001B6455	NM_024337.3			2/4		Gene3D:1.10.10.60,hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF13,SMART_domains:SM00389,Superfamily_domains:SSF46689																	LOW	1	SNV	1			1										PASS		rs1185415252	.												T	2	4	81	3599347	3599347	C	T	1	0	0	0	0	0	0	0	1	7751	535	19	1		1	IRX1	5	3599347	Silent	SNP	C	C3N-01489_TP	850688	3599347	177938912	239	26785											
ADAMTS16	0	.	GRCh38	chr5	5303455	5303455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccacctgcatggagcgccGggccctgggcagaggtaacc	7	4	15	15	2	0	1	0	0	0	1	0	2	0	2	5	4	3	3	5	4	1	1	rs780516913		C3N-01489_TP	C3N-01489_NB	G	G																c.2977G>T	p.Gly993Trp	p.G993W	ENST00000274181	19/23	89	76	13	101	101	0	strelka-varscan-mutect	ADAMTS16,missense_variant,p.Gly993Trp,ENST00000274181,NM_139056.2;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	T	ENST00000274181	Transcript	missense_variant	3115/4979	2977/3675	993/1224	G/W	Ggg/Tgg	rs780516913,COSM1181862,COSM1181863	1		1	ADAMTS16	HGNC	HGNC:17108	protein_coding	YES	CCDS43299.1	ENSP00000274181	Q8TE57		UPI00004572CA	NM_139056.2	deleterious(0)		19/23		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs780516913	.												T	3	4	81	5303455	5303455	G	T	1	0	0	0	0	1	0	0	0	305	1116	39	1		1	ADAMTS16	5	5303455	Missense_Mutation	SNP	G	C3N-01489_TP	1704108	5303455	176234804	240	26786											
ICE1	0	.	GRCh38	chr5	5461606	5461606	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgtgaaagtcaagatccaAgaattgagctcacactaaat	18	9	7	7	0	2	4	2	2	0	2	3	4	3	4	1	0	1	1	1	0	7	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.2272A>T	p.Arg758Ter	p.R758*	ENST00000296564	13/19	200	171	29	248	248	0	strelka-varscan-mutect	ICE1,stop_gained,p.Arg758Ter,ENST00000296564,NM_015325.2;	T	ENST00000296564	Transcript	stop_gained	2494/7927	2272/6801	758/2266	R/*	Aga/Tga		1		1	ICE1	HGNC	HGNC:29154	protein_coding	YES	CCDS47187.1	ENSP00000296564	Q9Y2F5		UPI00015542F9	NM_015325.2			13/19		hmmpanther:PTHR11852:SF4,hmmpanther:PTHR11852																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	81	5461606	5461606	A	T	1	0	0	0	0	0	1	0	0	7384	64	3	4		4	ICE1	5	5461606	Nonsense_Mutation	SNP	A	C3N-01489_TP	158151	5461606	176076653	241	26787											
PAPD7	0	.	GRCh38	chr5	6742495	6742495	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaatctttacaggtaccAataataaagctcacagatca	18	10	5	8	0	3	2	2	1	1	1	3	2	3	2	1	1	3	2	1	1	7	5	rs752659073		C3N-01489_TP	C3N-01489_NB	A	A																c.264A>T	p.=	p.P88P	ENST00000631941	5/13	199	183	16	206	206	0	strelka-varscan-mutect	PAPD7,synonymous_variant,p.=,ENST00000230859,;PAPD7,synonymous_variant,p.=,ENST00000631941,NM_006999.4,NM_001171805.1;PAPD7,downstream_gene_variant,,ENST00000515721,;PAPD7,upstream_gene_variant,,ENST00000514697,;PAPD7,upstream_gene_variant,,ENST00000511764,;	T	ENST00000631941	Transcript	synonymous_variant	452/1902	264/1629	88/542	P	ccA/ccT	rs752659073	1		1	PAPD7	HGNC	HGNC:16705	protein_coding	YES	CCDS3871.1	ENSP00000488642	Q5XG87		UPI0000071E30	NM_006999.4,NM_001171805.1			5/13		Gene3D:3.30.460.10,Pfam_domain:PF01909,hmmpanther:PTHR23092,hmmpanther:PTHR23092:SF24,Superfamily_domains:SSF81301																	LOW	1	SNV	5			1										PASS		rs752659073	.												T	2	4	81	6742495	6742495	A	T	1	0	0	0	0	0	0	0	1	11507	144	5	4		4	PAPD7	5	6742495	Silent	SNP	A	C3N-01489_TP	1280889	6742495	174795764	242	26788											
MTRR	0	.	GRCh38	chr5	7885707	7885707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctcttctctagaatacaGacttttcctatcagcctgga	9	14	7	11	0	3	2	1	0	2	2	5	3	4	3	2	2	2	1	2	2	4	6	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.991G>A	p.Asp331Asn	p.D331N	ENST00000264668	7/15	276	213	63	349	347	2	strelka-varscan-mutect	MTRR,missense_variant,p.Asp331Asn,ENST00000264668,NM_024010.2;MTRR,missense_variant,p.Asp304Asn,ENST00000440940,NM_002454.2;MTRR,non_coding_transcript_exon_variant,,ENST00000508101,;MTRR,upstream_gene_variant,,ENST00000509961,;MTRR,upstream_gene_variant,,ENST00000507414,;MTRR,missense_variant,p.Asp313Asn,ENST00000510525,;MTRR,3_prime_UTR_variant,,ENST00000511461,;MTRR,3_prime_UTR_variant,,ENST00000513439,;MTRR,downstream_gene_variant,,ENST00000514369,;MTRR,upstream_gene_variant,,ENST00000512311,;	A	ENST00000264668	Transcript	missense_variant	1021/3274	991/2178	331/725	D/N	Gac/Aac		1		1	MTRR	HGNC	HGNC:7473	protein_coding	YES	CCDS3874.1	ENSP00000264668	Q9UBK8		UPI000013D550	NM_024010.2	tolerated(0.48)		7/15		Gene3D:2.40.30.10,Pfam_domain:PF00667,PROSITE_profiles:PS51384,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF84,Superfamily_domains:SSF63380																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	7885707	7885707	G	A	1	0	0	0	0	1	0	0	0	9958	942	33	3		3	MTRR	5	7885707	Missense_Mutation	SNP	G	C3N-01489_TP	1143212	7885707	173652552	243	26789											
SEMA5A	0	.	GRCh38	chr5	9054155	9054155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagatgtcccctccatagGccggggctggattggagcaa	8	7	15	11	1	0	1	0	0	0	1	2	3	2	3	4	6	1	3	4	6	2	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2621C>A	p.Ala874Asp	p.A874D	ENST00000382496	19/23	237	159	78	261	261	0	strelka-varscan-mutect	SEMA5A,missense_variant,p.Ala874Asp,ENST00000382496,NM_003966.2;MIR4636,upstream_gene_variant,,ENST00000582271,;	T	ENST00000382496	Transcript	missense_variant	3287/11762	2621/3225	874/1074	A/D	gCc/gAc		1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2	tolerated(0.06)		19/23		PROSITE_profiles:PS50092,hmmpanther:PTHR11036:SF78,hmmpanther:PTHR11036,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	9054155	9054155	G	T	1	0	0	0	0	1	0	0	0	14313	1203	42	2		2	SEMA5A	5	9054155	Missense_Mutation	SNP	G	C3N-01489_TP	1168448	9054155	172484104	244	26790											
SEMA5A	0	.	GRCh38	chr5	9119087	9119087	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccgcacctggaagccgatCccacaggtagtgctgcaggg	8	6	14	13	2	0	0	0	0	0	0	1	2	1	1	4	3	4	4	4	3	2	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1836G>T	p.=	p.G612G	ENST00000382496	15/23	302	207	95	363	362	1	strelka-varscan-mutect	SEMA5A,synonymous_variant,p.=,ENST00000382496,NM_003966.2;	A	ENST00000382496	Transcript	synonymous_variant	2502/11762	1836/3225	612/1074	G	ggG/ggT		1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2			15/23		PROSITE_profiles:PS50092,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895																	LOW	1	SNV	1			1										PASS		rs1415296325	.												A	2	1	81	9119087	9119087	C	A	1	0	0	0	0	0	0	0	1	14313	842	30	2		2	SEMA5A	5	9119087	Silent	SNP	C	C3N-01489_TP	64932	9119087	172419172	245	26791											
TRIO	0	.	GRCh38	chr5	14504398	14504398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatattttacaggggcaGattctctgtcgttaagaaat	12	14	9	6	1	1	3	0	1	1	2	3	3	1	3	0	2	1	2	0	2	4	5	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.8417G>T	p.Arg2806Ile	p.R2806I	ENST00000344204	55/57	240	162	78	265	265	0	strelka-varscan-mutect	TRIO,missense_variant,p.Arg2806Ile,ENST00000344204,NM_007118.2;TRIO,missense_variant,p.Arg305Ile,ENST00000344135,;TRIO,intron_variant,,ENST00000513206,;TRIO,intron_variant,,ENST00000620511,;TRIO,3_prime_UTR_variant,,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000508717,;TRIO,non_coding_transcript_exon_variant,,ENST00000508283,;	T	ENST00000344204	Transcript	missense_variant	8441/11100	8417/9294	2806/3097	R/I	aGa/aTa		1		1	TRIO	HGNC	HGNC:12303	protein_coding	YES	CCDS3883.1	ENSP00000339299	O75962		UPI000034ECE6	NM_007118.2	deleterious(0)		55/57		PROSITE_profiles:PS50011,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	14504398	14504398	G	T	1	0	0	0	0	1	0	0	0	17049	956	33	2		2	TRIO	5	14504398	Missense_Mutation	SNP	G	C3N-01489_TP	5385311	14504398	167033861	246	26792											
MARCH11	0	.	GRCh38	chr5	16067636	16067636	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctgttccgcagagctgtCaatggcaaccacaaagtcct	10	11	8	12	1	2	1	1	0	1	1	4	1	4	1	3	1	2	4	3	1	3	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1044G>C	p.Leu348Phe	p.L348F	ENST00000332432	4/4	567	404	163	648	648	0	strelka-varscan-mutect	MARCH11,missense_variant,p.Leu348Phe,ENST00000332432,NM_001102562.1;MARCH11,3_prime_UTR_variant,,ENST00000507111,;	G	ENST00000332432	Transcript	missense_variant	1244/1741	1044/1209	348/402	L/F	ttG/ttC		1		-1	MARCH11	HGNC	HGNC:33609	protein_coding	YES	CCDS47192.1	ENSP00000333181	A6NNE9		UPI00015B3D4A	NM_001102562.1	tolerated(0.14)		4/4		hmmpanther:PTHR23012:SF67,hmmpanther:PTHR23012																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	81	16067636	16067636	C	G	1	0	0	0	0	1	0	0	0	9225	825	29	4		4	MARCH11	5	16067636	Missense_Mutation	SNP	C	C3N-01489_TP	1563238	16067636	165470623	247	26793											
DROSHA	0	.	GRCh38	chr5	31405687	31405687	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggcttacatttttcaagCgcatccattgctgctcccat	9	13	6	13	1	1	0	1	0	0	0	3	0	3	0	2	1	4	4	2	1	2	4	rs776295904		C3N-01489_TP	C3N-01489_NB	C	C																c.3984G>T	p.=	p.A1328A	ENST00000511367	34/35	153	102	51	190	190	0	strelka-varscan-mutect	DROSHA,synonymous_variant,p.=,ENST00000511367,NM_013235.4;DROSHA,synonymous_variant,p.=,ENST00000344624,;DROSHA,synonymous_variant,p.=,ENST00000442743,;DROSHA,synonymous_variant,p.=,ENST00000513349,NM_001100412.1;DROSHA,non_coding_transcript_exon_variant,,ENST00000511778,;DROSHA,non_coding_transcript_exon_variant,,ENST00000514927,;DROSHA,non_coding_transcript_exon_variant,,ENST00000512166,;DROSHA,downstream_gene_variant,,ENST00000509067,;	A	ENST00000511367	Transcript	synonymous_variant	4229/5305	3984/4125	1328/1374	A	gcG/gcT	rs776295904	1		-1	DROSHA	HGNC	HGNC:17904	protein_coding	YES	CCDS47195.1	ENSP00000425979	Q9NRR4		UPI0000134351	NM_013235.4			34/35		Gene3D:3.30.160.20,HAMAP:MF_00104,Pfam_domain:PF00035,PROSITE_profiles:PS50137,hmmpanther:PTHR11207,SMART_domains:SM00358,Superfamily_domains:SSF54768																	LOW	1	SNV	1			1										PASS		rs776295904	.												A	2	1	81	31405687	31405687	C	A	1	0	0	0	0	0	0	0	1	4584	755	27	1		1	DROSHA	5	31405687	Silent	SNP	C	C3N-01489_TP	15338051	31405687	150132572	248	26794											
NNT	0	.	GRCh38	chr5	43653152	43653152	+	Frame_Shift_Del	DEL	A	A	-																															gcagccaccctcggagtcctAaaaccgggcccagaattact																								rs147914179		C3N-01489_TP	C3N-01489_NB	A	A																c.2001delA	p.Lys667AsnfsTer7	p.K667Nfs*7	ENST00000264663	14/22	141	97	44	195	195	0	sindel-varindel-pindel	NNT,frameshift_variant,p.Lys667AsnfsTer7,ENST00000264663,NM_012343.3;NNT,frameshift_variant,p.Lys667AsnfsTer7,ENST00000344920,NM_182977.2;NNT,frameshift_variant,p.Lys536AsnfsTer7,ENST00000512996,;NNT,downstream_gene_variant,,ENST00000503651,;NNT,non_coding_transcript_exon_variant,,ENST00000513390,;	-	ENST00000264663	Transcript	frameshift_variant	2219/6483	1998/3261	666/1086	L/X	ctA/ct	rs147914179	1		1	NNT	HGNC	HGNC:7863	protein_coding	YES	CCDS3949.1	ENSP00000264663	Q13423	A0A024R0C3	UPI000013D54F	NM_012343.3			14/22		Pfam_domain:PF02233,hmmpanther:PTHR10160,hmmpanther:PTHR10160:SF22,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	81	43653152	43653152	A	-	1	0	1	0	1	0	0	0	0	10551	349	13	0		0	NNT	5	43653152	Frame_Shift_Del	DEL	A	C3N-01489_TP	12247465	43653152	137885107	249	26795											
DDX4	0	.	GRCh38	chr5	55760256	55760256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaagtggatttgcctctGggcggaattttggaaacaga	12	11	13	5	1	1	2	0	1	1	1	1	5	1	5	1	4	2	0	1	4	4	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.184G>T	p.Gly62Trp	p.G62W	ENST00000505374	4/22	88	79	9	149	149	0	strelka-varscan-mutect	DDX4,missense_variant,p.Gly62Trp,ENST00000505374,NM_024415.2;DDX4,missense_variant,p.Gly62Trp,ENST00000353507,NM_001142549.1;DDX4,missense_variant,p.Gly62Trp,ENST00000514278,NM_001166533.1;DDX4,missense_variant,p.Gly62Trp,ENST00000354991,;DDX4,missense_variant,p.Gly62Trp,ENST00000506511,;DDX4,missense_variant,p.Gly62Trp,ENST00000506848,;DDX4,missense_variant,p.Gly62Trp,ENST00000514679,;DDX4,missense_variant,p.Gly62Trp,ENST00000511491,;DDX4,intron_variant,,ENST00000515709,;DDX4,non_coding_transcript_exon_variant,,ENST00000508580,;SLC38A9,intron_variant,,ENST00000504880,;DDX4,upstream_gene_variant,,ENST00000503129,;	T	ENST00000505374	Transcript	missense_variant	276/2884	184/2175	62/724	G/W	Ggg/Tgg		1		1	DDX4	HGNC	HGNC:18700	protein_coding	YES	CCDS3969.1	ENSP00000424838	Q9NQI0		UPI00001290D3	NM_024415.2	deleterious_low_confidence(0)		4/22																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	55760256	55760256	G	T	1	0	0	0	0	1	0	0	0	4163	1348	47	2		2	DDX4	5	55760256	Missense_Mutation	SNP	G	C3N-01489_TP	12107104	55760256	125778003	250	26796											
CMYA5	0	.	GRCh38	chr5	79736937	79736937	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaactaagactttcctGccagtggttctttcttgtca	10	14	8	9	0	3	2	1	0	2	2	4	3	4	2	2	1	2	1	2	1	3	5	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.8172G>T	p.=	p.L2724L	ENST00000446378	2/13	200	172	28	319	319	0	strelka-varscan-mutect	CMYA5,synonymous_variant,p.=,ENST00000446378,NM_153610.4;CMYA5,upstream_gene_variant,,ENST00000506603,;	T	ENST00000446378	Transcript	synonymous_variant	8203/12847	8172/12210	2724/4069	L	ctG/ctT		1		1	CMYA5	HGNC	HGNC:14305	protein_coding	YES	CCDS47238.1	ENSP00000394770	Q8N3K9		UPI00004F9478	NM_153610.4			2/13																			LOW	1	SNV	5			1										PASS		.	.												T	2	4	81	79736937	79736937	G	T	1	0	0	0	0	0	0	0	1	3368	1306	46	2		2	CMYA5	5	79736937	Silent	SNP	G	C3N-01489_TP	23976681	79736937	101801322	251	26797											
FAM81B	0	.	GRCh38	chr5	95450262	95450262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaattacagcgcaagataGtggaactccaggaagtataa	18	7	10	6	1	0	2	0	0	0	2	1	4	1	4	1	2	3	2	1	2	8	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1339G>T	p.Val447Leu	p.V447L	ENST00000283357	10/10	298	252	46	445	443	2	strelka-varscan-mutect	FAM81B,missense_variant,p.Val447Leu,ENST00000283357,NM_152548.2;FAM81B,missense_variant,p.Val122Leu,ENST00000512365,;FAM81B,3_prime_UTR_variant,,ENST00000507832,;FAM81B,3_prime_UTR_variant,,ENST00000513110,;FAM81B,downstream_gene_variant,,ENST00000503361,;	T	ENST00000283357	Transcript	missense_variant	1385/1560	1339/1359	447/452	V/L	Gtg/Ttg		1		1	FAM81B	HGNC	HGNC:26335	protein_coding	YES	CCDS43341.1	ENSP00000283357	Q96LP2		UPI00005A8996	NM_152548.2	deleterious(0.01)		10/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22420,hmmpanther:PTHR22420:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	95450262	95450262	G	T	1	0	0	0	0	1	0	0	0	5490	1029	36	2		2	FAM81B	5	95450262	Missense_Mutation	SNP	G	C3N-01489_TP	15713325	95450262	86087997	252	26798											
SEMA6A	0	.	GRCh38	chr5	116447260	116447260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgtgatgggcaggaccaCcacgctggggatgtggctgg	6	7	18	10	2	0	1	0	1	0	0	0	3	0	3	2	6	1	3	2	6	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2497G>A	p.Val833Met	p.V833M	ENST00000257414	20/20	201	153	48	305	305	0	strelka-varscan-mutect	SEMA6A,missense_variant,p.Val816Met,ENST00000343348,NM_020796.4;SEMA6A,missense_variant,p.Val833Met,ENST00000257414,NM_001300780.1;SEMA6A,missense_variant,p.Val243Met,ENST00000513137,;SEMA6A,missense_variant,p.Val816Met,ENST00000510263,;SEMA6A,missense_variant,p.Val331Met,ENST00000515129,;SEMA6A,missense_variant,p.Val195Met,ENST00000503865,;SEMA6A-AS1,upstream_gene_variant,,ENST00000508424,;SEMA6A-AS1,upstream_gene_variant,,ENST00000514214,;SEMA6A-AS1,upstream_gene_variant,,ENST00000508640,;SEMA6A-AS1,upstream_gene_variant,,ENST00000510682,;SEMA6A-AS1,upstream_gene_variant,,ENST00000512128,;SEMA6A,downstream_gene_variant,,ENST00000506114,;	T	ENST00000257414	Transcript	missense_variant	2746/4256	2497/3144	833/1047	V/M	Gtg/Atg		1		-1	SEMA6A	HGNC	HGNC:10738	protein_coding	YES	CCDS75288.1	ENSP00000257414		A0A0A0MQU6	UPI000018DB92	NM_001300780.1	tolerated(0.14)		20/20		hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	116447260	116447260	C	T	1	0	0	0	0	1	0	0	0	14315	507	18	3		3	SEMA6A	5	116447260	Missense_Mutation	SNP	C	C3N-01489_TP	20996998	116447260	65090999	253	26799											
SEMA6A	0	.	GRCh38	chr5	116482447	116482447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaatatttgcacatacctgGgcttaggaactcgttcatca	11	13	8	9	1	2	1	2	1	0	0	3	2	2	2	1	2	3	3	1	2	5	5	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1091C>T	p.Pro364Leu	p.P364L	ENST00000257414	11/20	111	84	27	156	156	0	strelka-varscan-mutect	SEMA6A,missense_variant,p.Pro364Leu,ENST00000343348,NM_020796.4;SEMA6A,missense_variant,p.Pro364Leu,ENST00000257414,NM_001300780.1;SEMA6A,missense_variant,p.Pro364Leu,ENST00000510263,;SEMA6A,upstream_gene_variant,,ENST00000515129,;SEMA6A-AS1,intron_variant,,ENST00000514214,;SEMA6A-AS1,intron_variant,,ENST00000508640,;SEMA6A-AS1,intron_variant,,ENST00000510682,;SEMA6A,upstream_gene_variant,,ENST00000506114,;SEMA6A,downstream_gene_variant,,ENST00000502996,;SEMA6A,upstream_gene_variant,,ENST00000514316,;SEMA6A,downstream_gene_variant,,ENST00000503402,;SEMA6A,downstream_gene_variant,,ENST00000510024,;	A	ENST00000257414	Transcript	missense_variant	1340/4256	1091/3144	364/1047	P/L	cCc/cTc		1		-1	SEMA6A	HGNC	HGNC:10738	protein_coding	YES	CCDS75288.1	ENSP00000257414		A0A0A0MQU6	UPI000018DB92	NM_001300780.1	deleterious(0.01)		11/20		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF12,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	116482447	116482447	G	A	1	0	0	0	0	1	0	0	0	14315	1246	43	3		3	SEMA6A	5	116482447	Missense_Mutation	SNP	G	C3N-01489_TP	35187	116482447	65055812	254	26800											
MEGF10	0	.	GRCh38	chr5	127410480	127410480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgttaccacgtgagcGgcgcatgcctctgtgaagca	9	8	14	10	3	1	2	0	2	1	0	1	3	1	3	2	2	4	3	2	2	3	1	rs779799530		C3N-01489_TP	C3N-01489_NB	G	G																c.1009G>T	p.Gly337Cys	p.G337C	ENST00000274473	10/26	409	328	81	537	537	0	strelka-varscan-mutect	MEGF10,missense_variant,p.Gly337Cys,ENST00000274473,NM_032446.2;MEGF10,missense_variant,p.Gly337Cys,ENST00000503335,NM_001256545.1;MEGF10,missense_variant,p.Gly337Cys,ENST00000508365,NM_001308121.1;MEGF10,missense_variant,p.Gly337Cys,ENST00000418761,;MEGF10,non_coding_transcript_exon_variant,,ENST00000515002,;	T	ENST00000274473	Transcript	missense_variant	1276/7594	1009/3423	337/1140	G/C	Ggc/Tgc	rs779799530	1		1	MEGF10	HGNC	HGNC:29634	protein_coding	YES	CCDS4142.1	ENSP00000274473	Q96KG7		UPI000006F868	NM_032446.2	deleterious(0)		10/26		Gene3D:2gy5A03,PROSITE_profiles:PS50026,hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF75,SMART_domains:SM00180,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		rs779799530	.												T	3	4	81	127410480	127410480	G	T	1	0	0	0	0	1	0	0	0	9400	1116	39	1		1	MEGF10	5	127410480	Missense_Mutation	SNP	G	C3N-01489_TP	10928033	127410480	54127779	255	26801											
TRPC7	0	.	GRCh38	chr5	136315747	136315747	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgcccactacaaaatcCttgcattgcatagataactt	14	10	5	12	1	0	1	0	0	0	1	1	1	1	1	2	0	5	3	2	0	5	6	rs183133343		C3N-01489_TP	C3N-01489_NB	C	C																c.813G>T	p.Lys271Asn	p.K271N	ENST00000513104	3/12	126	103	23	175	175	0	strelka-varscan-mutect	TRPC7,missense_variant,p.Lys271Asn,ENST00000513104,NM_020389.2;TRPC7,missense_variant,p.Lys271Asn,ENST00000502753,;TRPC7,intron_variant,,ENST00000378459,NM_001167577.1;TRPC7,intron_variant,,ENST00000352189,NM_001167576.1;TRPC7-AS2,non_coding_transcript_exon_variant,,ENST00000513958,;TRPC7,missense_variant,p.Lys271Asn,ENST00000503275,;TRPC7,intron_variant,,ENST00000514963,;	A	ENST00000513104	Transcript	missense_variant	1096/2987	813/2589	271/862	K/N	aaG/aaT	rs183133343,COSM364672,COSM364673	1		-1	TRPC7	HGNC	HGNC:20754	protein_coding	YES	CCDS47267.2	ENSP00000426070	Q9HCX4		UPI000004F27A	NM_020389.2	deleterious(0)		3/12		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9,TIGRFAM_domain:TIGR00870											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs183133343	.												A	3	1	81	136315747	136315747	C	A	1	0	0	0	0	1	0	0	0	17090	680	24	2		2	TRPC7	5	136315747	Missense_Mutation	SNP	C	C3N-01489_TP	8905267	136315747	45222512	256	26802											
BRD8	0	.	GRCh38	chr5	138145192	138145192	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaccttttcaccacatccTtgtaccctggggcctgcctt	5	13	7	16	0	1	1	1	1	0	0	2	1	2	1	6	2	2	1	6	2	1	5	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.3422A>T	p.Lys1141Met	p.K1141M	ENST00000254900	25/27	222	188	34	333	333	0	strelka-varscan-mutect	BRD8,missense_variant,p.Lys1141Met,ENST00000254900,NM_139199.1;BRD8,missense_variant,p.Lys247Met,ENST00000427976,;	A	ENST00000254900	Transcript	missense_variant	3794/4388	3422/3708	1141/1235	K/M	aAg/aTg		1		-1	BRD8	HGNC	HGNC:19874	protein_coding	YES	CCDS4198.1	ENSP00000254900	Q9H0E9		UPI0000246C01	NM_139199.1	deleterious(0.05)		25/27		PROSITE_profiles:PS50014,Gene3D:1.20.920.10,Pfam_domain:PF00439,SMART_domains:SM00297,Superfamily_domains:SSF47370																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	138145192	138145192	T	A	1	0	0	0	0	1	0	0	0	1676	1609	56	4		4	BRD8	5	138145192	Missense_Mutation	SNP	T	C3N-01489_TP	1829445	138145192	43393067	257	26803											
PCDHA1	0	.	GRCh38	chr5	140788591	140788591	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagggcccacccaagacCgacctcatggccttcagccc	9	4	10	18	2	2	1	2	0	0	1	2	3	2	1	6	2	2	0	6	2	1	1	rs781992120		C3N-01489_TP	C3N-01489_NB	C	C																c.2301C>A	p.=	p.T767T	ENST00000504120	1/4	161	146	15	217	217	0	strelka-varscan-mutect	PCDHA1,synonymous_variant,p.=,ENST00000504120,NM_018900.3;PCDHA1,synonymous_variant,p.=,ENST00000378133,NM_031410.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,non_coding_transcript_exon_variant,,ENST00000624712,;AC005609.16,downstream_gene_variant,,ENST00000624176,;	A	ENST00000504120	Transcript	synonymous_variant	2301/5263	2301/2853	767/950	T	acC/acA	rs781992120	1		1	PCDHA1	HGNC	HGNC:8663	protein_coding	YES	CCDS54913.1	ENSP00000420840	Q9Y5I3		UPI00001273C7	NM_018900.3			1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92																	LOW	1	SNV	1			1										PASS		rs781992120	.												A	2	1	81	140788591	140788591	C	A	1	0	0	0	0	0	0	0	1	11606	639	23	1		1	PCDHA1	5	140788591	Silent	SNP	C	C3N-01489_TP	2643399	140788591	40749668	258	26804											
PCDHA3	0	.	GRCh38	chr5	140802739	140802739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcggtacacgcggagagCggcaaggtgtacgcgctgca	8	6	17	10	6	0	1	0	0	0	1	1	2	0	1	0	4	4	5	0	4	3	2			C3N-01489_TP	C3N-01489_NB	C	C																c.1542C>G	p.Ser514Arg	p.S514R	ENST00000522353	1/4	644	566	78	790	790	0	strelka-varscan-mutect	PCDHA3,missense_variant,p.Ser514Arg,ENST00000522353,NM_018906.2;PCDHA3,missense_variant,p.Ser514Arg,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA4,upstream_gene_variant,,ENST00000618834,NM_031500.2;PCDHA4,upstream_gene_variant,,ENST00000530339,NM_018907.3;PCDHA4,upstream_gene_variant,,ENST00000512229,;PCDHA4,upstream_gene_variant,,ENST00000378125,;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,upstream_gene_variant,,ENST00000624176,;	G	ENST00000522353	Transcript	missense_variant	1542/5260	1542/2853	514/950	S/R	agC/agG	COSM1567468,COSM1567469	1		1	PCDHA3	HGNC	HGNC:8669	protein_coding	YES	CCDS54915.1	ENSP00000429808	Q9Y5H8		UPI00001273CB	NM_018906.2	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	81	140802739	140802739	C	G	1	0	0	0	0	1	0	0	0	11612	767	27	4		4	PCDHA3	5	140802739	Missense_Mutation	SNP	C	C3N-01489_TP	14148	140802739	40735520	259	26805											
PCDHA7	0	.	GRCh38	chr5	140836406	140836406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgctggtggaaagcggccagGcaccaaaggcgtcgtcgcgg	8	4	17	12	6	0	0	0	0	0	0	2	1	0	1	2	6	1	2	2	6	2	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2023G>A	p.Ala675Thr	p.A675T	ENST00000525929	1/4	342	272	70	496	495	1	strelka-varscan-mutect	PCDHA7,missense_variant,p.Ala675Thr,ENST00000525929,NM_018910.2;PCDHA7,missense_variant,p.Ala675Thr,ENST00000356878,NM_031852.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA8,upstream_gene_variant,,ENST00000531613,NM_018911.2;PCDHA8,upstream_gene_variant,,ENST00000378123,NM_031856.1;	A	ENST00000525929	Transcript	missense_variant	2023/5221	2023/2814	675/937	A/T	Gca/Aca		1		1	PCDHA7	HGNC	HGNC:8673	protein_coding	YES	CCDS54918.1	ENSP00000436426	Q9UN72		UPI00001273CF	NM_018910.2	tolerated_low_confidence(0.21)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,SMART_domains:SM00112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	140836406	140836406	G	A	1	0	0	0	0	1	0	0	0	11616	1203	42	3		3	PCDHA7	5	140836406	Missense_Mutation	SNP	G	C3N-01489_TP	33667	140836406	40701853	260	26806											
PCDHA13	0	.	GRCh38	chr5	140884016	140884016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgagcgagctgatgccgcGgtcggtgggtgcaggccacg	6	6	19	10	5	0	2	0	2	0	0	1	3	0	2	2	4	4	2	2	4	0	0	rs143828814		C3N-01489_TP	C3N-01489_NB	G	G																c.1748G>T	p.Arg583Leu	p.R583L	ENST00000289272	1/4	341	296	45	482	482	0	strelka-varscan-mutect	PCDHA13,missense_variant,p.Arg583Leu,ENST00000289272,NM_018904.2;PCDHA13,missense_variant,p.Arg583Leu,ENST00000409494,;PCDHA13,missense_variant,p.Arg583Leu,ENST00000617769,NM_031865.1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA11,intron_variant,,ENST00000398640,NM_018902.4;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA12,intron_variant,,ENST00000398631,NM_018903.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA11,intron_variant,,ENST00000617408,;AC005609.17,upstream_gene_variant,,ENST00000625195,;	T	ENST00000289272	Transcript	missense_variant	1748/5260	1748/2853	583/950	R/L	cGg/cTg	rs143828814	1		1	PCDHA13	HGNC	HGNC:8667	protein_coding	YES	CCDS4240.1	ENSP00000289272	Q9Y5I0		UPI00001273D6	NM_018904.2	tolerated_low_confidence(0.08)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,Gene3D:2.60.40.60,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs143828814	.												T	3	4	81	140884016	140884016	G	T	1	0	0	0	0	1	0	0	0	11610	1116	39	1		1	PCDHA13	5	140884016	Missense_Mutation	SNP	G	C3N-01489_TP	47610	140884016	40654243	261	26807											
PCDHB8	0	.	GRCh38	chr5	141179771	141179771	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcaccgagctggtgccccgGgcggccgagccgggctacct	4	5	16	16	5	0	0	0	0	0	0	0	2	0	0	6	4	5	3	6	4	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1737G>T	p.=	p.R579R	ENST00000239444	1/1	534	441	93	723	722	1	strelka-varscan-mutect	PCDHB8,synonymous_variant,p.=,ENST00000239444,NM_019120.4;PCDHB16,upstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.3;PCDHB16,upstream_gene_variant,,ENST00000625044,;CH17-140K24.5,upstream_gene_variant,,ENST00000623884,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,downstream_gene_variant,,ENST00000624549,;CH17-140K24.7,downstream_gene_variant,,ENST00000624089,;CH17-140K24.4,intron_variant,,ENST00000623995,;CH17-140K24.5,upstream_gene_variant,,ENST00000623407,;	T	ENST00000239444	Transcript	synonymous_variant	1982/2740	1737/2406	579/801	R	cgG/cgT		1		1	PCDHB8	HGNC	HGNC:8693	protein_coding	YES	CCDS4250.1	ENSP00000239444	Q9UN66		UPI000192C41A	NM_019120.4			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313																	LOW		SNV				1										PASS		.	.												T	2	4	81	141179771	141179771	G	T	1	0	0	0	0	0	0	0	1	11635	1219	43	2		2	PCDHB8	5	141179771	Silent	SNP	G	C3N-01489_TP	295755	141179771	40358488	262	26808											
PCDHB11	0	.	GRCh38	chr5	141202099	141202099	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggttatccctaatatccaGgcaaaaggtcttgggaagaa	13	9	10	9	1	1	1	0	0	1	1	3	2	3	2	3	4	0	2	3	4	7	4			C3N-01489_TP	C3N-01489_NB	G	G																c.2325G>A	p.=	p.Q775Q	ENST00000354757	1/1	129	119	10	227	227	0	strelka-varscan-mutect	PCDHB11,synonymous_variant,p.=,ENST00000354757,NM_018931.2;PCDHB11,synonymous_variant,p.=,ENST00000624887,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,upstream_gene_variant,,ENST00000624549,;	A	ENST00000354757	Transcript	synonymous_variant	2518/4198	2325/2394	775/797	Q	caG/caA	COSM5330094	1		1	PCDHB11	HGNC	HGNC:8682	protein_coding	YES	CCDS4253.1	ENSP00000346802	Q9Y5F2		UPI00001273E6	NM_018931.2			1/1		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF91											1						LOW		SNV			1	1										PASS		.	.												A	2	1	81	141202099	141202099	G	A	1	0	0	0	0	0	0	0	1	11623	991	35	3		3	PCDHB11	5	141202099	Silent	SNP	G	C3N-01489_TP	22328	141202099	40336160	263	26809											
PCDHB15	0	.	GRCh38	chr5	141247309	141247309	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgcaccgagctggtgccCcgggcggccgagccgggcta	4	4	16	17	5	0	0	0	0	0	0	0	2	0	0	6	4	4	3	6	4	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1731C>A	p.=	p.P577P	ENST00000231173	1/1	344	312	32	507	505	2	varscan-mutect	PCDHB15,synonymous_variant,p.=,ENST00000231173,NM_018935.3;PCDHB15,downstream_gene_variant,,ENST00000623671,;CH17-140K24.8,downstream_gene_variant,,ENST00000624396,;CH17-140K24.2,upstream_gene_variant,,ENST00000624560,;PCDHB19P,downstream_gene_variant,,ENST00000625133,;	A	ENST00000231173	Transcript	synonymous_variant	1961/4017	1731/2364	577/787	P	ccC/ccA		1		1	PCDHB15	HGNC	HGNC:8686	protein_coding	YES	CCDS4257.1	ENSP00000231173	Q9Y5E8		UPI00001273E8	NM_018935.3			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF97,Gene3D:2.60.40.60,Superfamily_domains:SSF49313																	LOW		SNV				1										PASS		.	.												A	2	1	81	141247309	141247309	C	A	1	0	0	0	0	0	0	0	1	11627	610	22	2		2	PCDHB15	5	141247309	Silent	SNP	C	C3N-01489_TP	45210	141247309	40290950	264	26810											
PCDHGB7	0	.	GRCh38	chr5	141419293	141419293	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcaagtcagtgcctctgaCccagacttcgggctcaacgg	8	7	12	14	3	3	2	2	1	1	1	4	2	3	2	2	2	2	2	2	2	2	1	rs748856660		C3N-01489_TP	C3N-01489_NB	C	C																c.1434C>T	p.=	p.D478D	ENST00000398594	1/4	210	165	45	300	300	0	strelka-varscan-mutect	PCDHGB7,synonymous_variant,p.=,ENST00000398594,NM_018927.3;PCDHGB7,synonymous_variant,p.=,ENST00000612073,NM_032101.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGA11,upstream_gene_variant,,ENST00000398587,NM_018914.2;PCDHGA10,downstream_gene_variant,,ENST00000612503,NM_032090.1;PCDHGA11,upstream_gene_variant,,ENST00000622044,NM_032091.1;PCDHGA11,upstream_gene_variant,,ENST00000518882,NM_032092.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000398594	Transcript	synonymous_variant	1603/4765	1434/2790	478/929	D	gaC/gaT	rs748856660,COSM5368136	1		1	PCDHGB7	HGNC	HGNC:8714	protein_coding	YES	CCDS47293.1	ENSP00000381594	Q9Y5F8		UPI000007141F	NM_018927.3			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF113,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1						LOW	1	SNV	1		0,1	1										PASS		rs748856660	.												T	2	4	81	141419293	141419293	C	T	1	0	0	0	0	0	0	0	1	11655	506	18	3		3	PCDHGB7	5	141419293	Silent	SNP	C	C3N-01489_TP	171984	141419293	40118966	265	26811											
SH3TC2	0	.	GRCh38	chr5	149047958	149047958	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttacacacctcctggaGcggctctttacacagaagga	11	9	8	13	1	1	1	0	0	1	1	2	3	2	3	3	3	3	1	3	3	3	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.183C>A	p.=	p.R61R	ENST00000515425	3/17	385	303	82	575	575	0	strelka-varscan-mutect	SH3TC2,synonymous_variant,p.=,ENST00000515425,NM_024577.3;SH3TC2,synonymous_variant,p.=,ENST00000512049,;SH3TC2,synonymous_variant,p.=,ENST00000323829,;SH3TC2,synonymous_variant,p.=,ENST00000504690,;SH3TC2,synonymous_variant,p.=,ENST00000513604,;SH3TC2,synonymous_variant,p.=,ENST00000511307,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000504091,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000511949,;	T	ENST00000515425	Transcript	synonymous_variant	285/4059	183/3867	61/1288	R	cgC/cgA		1		-1	SH3TC2	HGNC	HGNC:29427	protein_coding	YES	CCDS4293.1	ENSP00000423660	Q8TF17		UPI00001DFBEE	NM_024577.3			3/17		hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	149047958	149047958	G	T	1	0	0	0	0	0	0	0	1	14521	958	34	2		2	SH3TC2	5	149047958	Silent	SNP	G	C3N-01489_TP	7628665	149047958	32490301	266	26812											
ARHGEF37	0	.	GRCh38	chr5	149597822	149597822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtcagggagtccggacaGggaaggtagggcctctgagg	9	5	19	8	1	2	1	1	1	1	0	3	4	3	4	2	7	0	1	2	7	2	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.53G>T	p.Arg18Met	p.R18M	ENST00000333677	2/13	100	81	19	139	138	1	strelka-varscan-mutect	ARHGEF37,missense_variant,p.Arg18Met,ENST00000333677,NM_001001669.2;ARHGEF37,missense_variant,p.Arg18Met,ENST00000505810,;	T	ENST00000333677	Transcript	missense_variant	216/4968	53/2028	18/675	R/M	aGg/aTg		1		1	ARHGEF37	HGNC	HGNC:34430	protein_coding	YES	CCDS43385.1	ENSP00000328083	A1IGU5		UPI00001D7F04	NM_001001669.2	tolerated_low_confidence(0.13)		2/13		hmmpanther:PTHR22834,Gene3D:1.20.900.10,Superfamily_domains:SSF48065																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	81	149597822	149597822	G	T	1	0	0	0	0	1	0	0	0	1040	1000	35	2		2	ARHGEF37	5	149597822	Missense_Mutation	SNP	G	C3N-01489_TP	549864	149597822	31940437	267	26813											
ARHGEF37	0	.	GRCh38	chr5	149627156	149627156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctgtaccaggtgacaagCaacatcagtgggactgggac	13	6	13	9	0	1	1	1	1	0	0	1	3	1	3	1	3	4	3	1	3	4	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1545C>A	p.Ser515Arg	p.S515R	ENST00000333677	11/13	140	123	17	237	236	1	strelka-varscan-mutect	ARHGEF37,missense_variant,p.Ser515Arg,ENST00000333677,NM_001001669.2;ARHGEF37,non_coding_transcript_exon_variant,,ENST00000509831,;	A	ENST00000333677	Transcript	missense_variant	1708/4968	1545/2028	515/675	S/R	agC/agA		1		1	ARHGEF37	HGNC	HGNC:34430	protein_coding	YES	CCDS43385.1	ENSP00000328083	A1IGU5		UPI00001D7F04	NM_001001669.2	deleterious(0)		11/13		hmmpanther:PTHR22834,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	81	149627156	149627156	C	A	1	0	0	0	0	1	0	0	0	1040	709	25	2		2	ARHGEF37	5	149627156	Missense_Mutation	SNP	C	C3N-01489_TP	29334	149627156	31911103	268	26814											
ZBED8	0	.	GRCh38	chr5	160394493	160394493	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttggcctcgggaaagcCacctcatttcagtatggaaa	11	11	10	9	1	2	0	2	0	0	0	3	2	2	2	3	3	1	2	3	3	4	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.998G>T	p.Trp333Leu	p.W333L	ENST00000408953	2/2	275	229	46	459	459	0	strelka-varscan-mutect	ZBED8,missense_variant,p.Trp333Leu,ENST00000408953,NM_022090.4;ZBED8,missense_variant,p.Trp333Leu,ENST00000523213,NM_001303251.1;	A	ENST00000408953	Transcript	missense_variant	1506/2851	998/1785	333/594	W/L	tGg/tTg		1		-1	ZBED8	HGNC	HGNC:30804	protein_coding	YES	CCDS34283.1	ENSP00000386184	Q8IZ13		UPI00000741A3	NM_022090.4	deleterious(0)		2/2		hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF102,Superfamily_domains:SSF53098																	MODERATE	1	SNV	2			1										PASS		rs1215029406	.												A	3	1	81	160394493	160394493	C	A	1	0	0	0	0	1	0	0	0	18085	595	21	2		2	ZBED8	5	160394493	Missense_Mutation	SNP	C	C3N-01489_TP	10767337	160394493	21143766	269	26815											
DOCK2	0	.	GRCh38	chr5	170050276	170050276	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagtgttcatctaccgCgggaaggaatatgagcgaag	15	7	12	7	3	2	1	1	1	1	0	2	4	2	3	1	2	3	1	1	2	7	3	rs142465529		C3N-01489_TP	C3N-01489_NB	C	C																c.4092C>A	p.=	p.R1364R	ENST00000256935	41/52	120	98	22	196	196	0	strelka-varscan-mutect	DOCK2,synonymous_variant,p.=,ENST00000256935,NM_004946.2;DOCK2,synonymous_variant,p.=,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;	A	ENST00000256935	Transcript	synonymous_variant	4172/6097	4092/5493	1364/1830	R	cgC/cgA	rs142465529,COSM127833	1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2			41/52		PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Pfam_domain:PF06920											0,1						LOW	1	SNV	1		0,1	1										PASS		rs142465529	.												A	2	1	81	170050276	170050276	C	A	1	0	0	0	0	0	0	0	1	4502	755	27	1		1	DOCK2	5	170050276	Silent	SNP	C	C3N-01489_TP	9655783	170050276	11487983	270	26816											
NSD1	0	.	GRCh38	chr5	177210711	177210711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaactcgttaataaagggtgGggcagcaaatcaagctctat	14	9	11	7	1	2	0	1	0	1	0	3	1	2	0	0	3	3	4	0	3	7	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2312G>T	p.Gly771Val	p.G771V	ENST00000439151	5/23	335	262	73	508	507	1	strelka-varscan-mutect	NSD1,missense_variant,p.Gly771Val,ENST00000439151,NM_022455.4;NSD1,missense_variant,p.Gly502Val,ENST00000354179,NM_172349.2;NSD1,missense_variant,p.Gly502Val,ENST00000347982,;NSD1,downstream_gene_variant,,ENST00000508896,;NSD1,upstream_gene_variant,,ENST00000375350,;	T	ENST00000439151	Transcript	missense_variant	2357/12892	2312/8091	771/2696	G/V	gGg/gTg		1		1	NSD1	HGNC	HGNC:14234	protein_coding	YES	CCDS4412.1	ENSP00000395929	Q96L73		UPI000006F9C6	NM_022455.4	deleterious_low_confidence(0.02)		5/23																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	177210711	177210711	G	T	1	0	0	0	0	1	0	0	0	10728	1232	43	2		2	NSD1	5	177210711	Missense_Mutation	SNP	G	C3N-01489_TP	7160435	177210711	4327548	271	26817											
BTNL8	0	.	GRCh38	chr5	180948942	180948942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagaagaaagcacggacaGgcaggtaaaagaaaatattc	19	5	12	5	1	0	3	0	0	0	3	1	5	0	4	0	4	1	3	0	4	7	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.831G>T	p.Gln277His	p.Q277H	ENST00000340184	6/8	25	21	4	71	71	0	varscan-mutect	BTNL8,missense_variant,p.Gly321Cys,ENST00000231229,NM_024850.2;BTNL8,missense_variant,p.Gln277His,ENST00000340184,NM_001040462.2;BTNL8,missense_variant,p.Gly314Cys,ENST00000508408,NM_001159708.1;BTNL8,missense_variant,p.Gln93His,ENST00000533815,NM_001159710.1;BTNL8,missense_variant,p.Gln152His,ENST00000400707,NM_001159709.1;BTNL8,missense_variant,p.Gln152His,ENST00000610640,;BTNL8,missense_variant,p.Gln70His,ENST00000505126,;BTNL8,missense_variant,p.Gln161His,ENST00000511704,NM_001159707.1;BTNL8,3_prime_UTR_variant,,ENST00000503543,;BTNL8,downstream_gene_variant,,ENST00000514448,;BTNL8,downstream_gene_variant,,ENST00000513442,;RPS29P12,downstream_gene_variant,,ENST00000460178,;	T	ENST00000340184	Transcript	missense_variant	1037/2071	831/1503	277/500	Q/H	caG/caT		1		1	BTNL8	HGNC	HGNC:26131	protein_coding	YES	CCDS43413.1	ENSP00000342197	Q6UX41		UPI00000389ED	NM_001040462.2	deleterious(0.04)		6/8		PROSITE_profiles:PS50188,hmmpanther:PTHR24100:SF73,hmmpanther:PTHR24100																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	180948942	180948942	G	T	1	0	0	0	0	1	0	0	0	1743	1014	35	2		2	BTNL8	5	180948942	Missense_Mutation	SNP	G	C3N-01489_TP	3738231	180948942	589317	272	26818											
TRIM7	0	.	GRCh38	chr5	181204690	181204690	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgtccgtcgtcctggcAgtagagcttgaagggttcgc	5	9	16	11	5	0	2	0	1	0	1	4	2	2	2	2	3	1	4	2	3	2	3	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.421T>A	p.Cys141Ser	p.C141S	ENST00000274773	1/7	121	102	19	151	151	0	strelka-varscan-mutect	TRIM7,missense_variant,p.Cys141Ser,ENST00000274773,NM_203293.2;TRIM7,missense_variant,p.Cys141Ser,ENST00000334421,NM_033342.3;TRIM7,upstream_gene_variant,,ENST00000393315,NM_203294.1,NM_203296.1;TRIM7,upstream_gene_variant,,ENST00000393319,NM_203297.1;TRIM7,upstream_gene_variant,,ENST00000422067,NM_203295.1;CTC-338M12.6,downstream_gene_variant,,ENST00000511517,;CTC-338M12.6,downstream_gene_variant,,ENST00000514784,;CTC-338M12.6,downstream_gene_variant,,ENST00000509080,;CTC-338M12.6,downstream_gene_variant,,ENST00000502812,;CTC-338M12.6,downstream_gene_variant,,ENST00000512508,;CTC-338M12.1,downstream_gene_variant,,ENST00000503314,;CTC-338M12.6,downstream_gene_variant,,ENST00000419707,;TRIM7,upstream_gene_variant,,ENST00000509199,;	T	ENST00000274773	Transcript	missense_variant	483/2840	421/1536	141/511	C/S	Tgc/Agc		1		-1	TRIM7	HGNC	HGNC:16278	protein_coding	YES	CCDS4462.1	ENSP00000274773	Q9C029		UPI000006D24A	NM_203293.2	deleterious(0)		1/7		PROSITE_profiles:PS50119,hmmpanther:PTHR24103:SF361,hmmpanther:PTHR24103,Gene3D:1freA00,Pfam_domain:PF00643,SMART_domains:SM00336,Superfamily_domains:SSF57845,Prints_domain:PR01406																	MODERATE	1	SNV	1			1										PASS		rs1334651364	.												T	3	4	81	181204690	181204690	A	T	1	0	0	0	0	1	0	0	0	17039	188	7	4		4	TRIM7	5	181204690	Missense_Mutation	SNP	A	C3N-01489_TP	255748	181204690	333569	273	26819											
FAM50B	0	.	GRCh38	chr6	3849879	3849879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcaagaagcgcgaaaGgcagcgggagcagatggagg	12	3	16	10	3	1	2	1	0	0	2	2	5	2	4	2	4	3	2	2	4	3	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.68G>T	p.Arg23Met	p.R23M	ENST00000380274	1/1	110	102	8	181	181	0	strelka-mutect	FAM50B,missense_variant,p.Arg23Met,ENST00000380274,;FAM50B,missense_variant,p.Arg23Met,ENST00000380272,NM_012135.1;RP11-420L9.4,intron_variant,,ENST00000454396,;	T	ENST00000380274	Transcript	missense_variant	494/1932	68/978	23/325	R/M	aGg/aTg		1		1	FAM50B	HGNC	HGNC:18789	protein_coding	YES	CCDS4487.1	ENSP00000369627	Q9Y247	A0A024QZY3	UPI000003373E		deleterious(0)		1/1		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12722,hmmpanther:PTHR12722:SF1																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	81	3849879	3849879	G	T	1	0	0	0	0	1	0	0	0	5454	1000	35	2		2	FAM50B	6	3849879	Missense_Mutation	SNP	G	C3N-01489_TP		3849879	166956100	274	26820											
F13A1	0	.	GRCh38	chr6	6167518	6167518	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttggccagaacatccctGgtctcattgatgcgagctgt	7	12	11	11	1	1	2	1	1	1	1	3	3	2	2	2	2	4	2	2	2	1	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1848C>A	p.=	p.T616T	ENST00000264870	13/15	456	355	101	620	617	3	strelka-varscan-mutect	F13A1,synonymous_variant,p.=,ENST00000264870,NM_000129.3;MIR7853,downstream_gene_variant,,ENST00000584820,;MIR5683,upstream_gene_variant,,ENST00000636514,;	T	ENST00000264870	Transcript	synonymous_variant	2114/3999	1848/2199	616/732	T	acC/acA		1		-1	F13A1	HGNC	HGNC:3531	protein_coding	YES	CCDS4496.1	ENSP00000264870	P00488		UPI000013D585	NM_000129.3			13/15		Gene3D:2.60.40.10,Pfam_domain:PF00927,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF42,Superfamily_domains:SSF49309																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	6167518	6167518	G	T	1	0	0	0	0	0	0	0	1	5208	1335	47	2		2	F13A1	6	6167518	Silent	SNP	G	C3N-01489_TP	2317639	6167518	164638461	275	26821											
DSP	0	.	GRCh38	chr6	7584809	7584809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatcagatggctccaccaGggtggtcctggtagatagaa	10	8	15	8	0	1	3	1	0	0	3	3	4	3	4	3	5	0	2	3	5	3	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.7547G>T	p.Arg2516Met	p.R2516M	ENST00000379802	24/24	376	301	75	581	581	0	strelka-varscan-mutect	DSP,missense_variant,p.Arg2516Met,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Arg1917Met,ENST00000418664,NM_001008844.1;	T	ENST00000379802	Transcript	missense_variant	7888/9796	7547/8616	2516/2871	R/M	aGg/aTg		1		1	DSP	HGNC	HGNC:3052	protein_coding	YES	CCDS4501.1	ENSP00000369129	P15924		UPI000013C67F	NM_004415.2	deleterious(0)		24/24		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF234,Gene3D:3.90.1290.10,SMART_domains:SM00250																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	7584809	7584809	G	T	1	0	0	0	0	1	0	0	0	4602	1000	35	2		2	DSP	6	7584809	Missense_Mutation	SNP	G	C3N-01489_TP	1417291	7584809	163221170	276	26822											
TXNDC5	0	.	GRCh38	chr6	7899603	7899603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgttcagtgtctgcagCatccagttttccagtgtctg	5	15	9	12	1	3	0	1	0	2	0	7	0	6	0	3	0	2	4	3	0	0	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.492G>T	p.Met164Ile	p.M164I	ENST00000379757	3/10	144	114	30	203	202	1	strelka-varscan-mutect	TXNDC5,missense_variant,p.Met164Ile,ENST00000379757,NM_030810.3;TXNDC5,missense_variant,p.Met56Ile,ENST00000473453,NM_001145549.2;BLOC1S5-TXNDC5,3_prime_UTR_variant,,ENST00000439343,;TXNDC5,non_coding_transcript_exon_variant,,ENST00000469459,;	A	ENST00000379757	Transcript	missense_variant	530/2964	492/1299	164/432	M/I	atG/atT		1		-1	TXNDC5	HGNC	HGNC:21073	protein_coding	YES	CCDS4505.1	ENSP00000369081	Q8NBS9		UPI0000048EC3	NM_030810.3	tolerated(0.48)		3/10		Gene3D:3.40.30.10,Pfam_domain:PF00085,PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF43,Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	7899603	7899603	C	A	1	0	0	0	0	1	0	0	0	17314	710	25	2		2	TXNDC5	6	7899603	Missense_Mutation	SNP	C	C3N-01489_TP	314794	7899603	162906376	277	26823											
GMPR	0	.	GRCh38	chr6	16250352	16250352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctctttgccacaaatcaCccagaatgcctgcaggtacg	12	8	8	13	1	2	1	1	0	1	1	2	1	2	1	3	1	5	3	3	1	4	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.276C>G	p.His92Gln	p.H92Q	ENST00000259727	3/9	236	196	40	369	369	0	strelka-varscan-mutect	GMPR,missense_variant,p.His92Gln,ENST00000259727,NM_006877.3;	G	ENST00000259727	Transcript	missense_variant	390/1515	276/1038	92/345	H/Q	caC/caG		1		1	GMPR	HGNC	HGNC:4376	protein_coding	YES	CCDS4537.1	ENSP00000259727	P36959		UPI000012B8B2	NM_006877.3	tolerated(0.51)		3/9		Gene3D:3.20.20.70,HAMAP:MF_00596,Pfam_domain:PF00478,PIRSF_domain:PIRSF000235,hmmpanther:PTHR11911,hmmpanther:PTHR11911:SF61,SMART_domains:SM01240,Superfamily_domains:SSF51412,TIGRFAM_domain:TIGR01305																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	16250352	16250352	C	G	1	0	0	0	0	1	0	0	0	6376	506	18	4		4	GMPR	6	16250352	Missense_Mutation	SNP	C	C3N-01489_TP	8350749	16250352	154555627	278	26824											
ZSCAN9	0	.	GRCh38	chr6	28227117	28227117	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaggaggttttatccctGggtgttcaagttcccgaggc	8	12	12	9	1	2	0	2	0	0	0	4	2	4	1	2	4	0	3	2	4	3	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.33G>T	p.=	p.L11L	ENST00000425468	2/5	119	97	22	162	162	0	strelka-varscan	ZSCAN9,synonymous_variant,p.=,ENST00000527436,;ZSCAN9,synonymous_variant,p.=,ENST00000425468,NM_001199479.1;ZSCAN9,synonymous_variant,p.=,ENST00000252207,NM_006299.4;ZSCAN9,synonymous_variant,p.=,ENST00000531979,NM_001199480.1;ZSCAN9,synonymous_variant,p.=,ENST00000527844,;ZSCAN9,synonymous_variant,p.=,ENST00000531981,;ZSCAN9,synonymous_variant,p.=,ENST00000526391,;ZSCAN9,synonymous_variant,p.=,ENST00000531941,;	T	ENST00000425468	Transcript	synonymous_variant	198/1791	33/1338	11/445	L	ctG/ctT		1		1	ZSCAN9	HGNC	HGNC:12984	protein_coding	YES	CCDS56407.1	ENSP00000404074	O15535		UPI0000E09E19	NM_001199479.1			2/5		hmmpanther:PTHR23226:SF15,hmmpanther:PTHR23226																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	28227117	28227117	G	T	1	0	0	0	0	0	0	0	1	18840	1335	47	2		2	ZSCAN9	6	28227117	Silent	SNP	G	C3N-01489_TP	11976765	28227117	142578862	279	26825											
C6orf10	0	.	GRCh38	chr6	32293212	32293212	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaaactctccttcttttcTtgggcttcctgtccttttag	5	19	5	12	0	4	0	1	0	3	0	7	0	6	0	3	1	1	1	3	1	3	7			C3N-01489_TP	C3N-01489_NB	T	T																c.1461A>T	p.Gln487His	p.Q487H	ENST00000447241	23/23	294	224	70	499	499	0	strelka-varscan-mutect	C6orf10,missense_variant,p.Gln487His,ENST00000612031,;C6orf10,missense_variant,p.Gln486His,ENST00000375015,;C6orf10,missense_variant,p.Gln485His,ENST00000533191,NM_001286474.1;C6orf10,missense_variant,p.Gln487His,ENST00000447241,NM_006781.4;C6orf10,missense_variant,p.Gln485His,ENST00000375007,;C6orf10,missense_variant,p.Gln471His,ENST00000527965,NM_001286475.1;C6orf10,missense_variant,p.Gln482His,ENST00000617061,;C6orf10,intron_variant,,ENST00000442822,;XXbac-BPG154L12.5,intron_variant,,ENST00000611838,;	A	ENST00000447241	Transcript	missense_variant	1634/2148	1461/1692	487/563	Q/H	caA/caT	COSM1496351	1		-1	C6orf10	HGNC	HGNC:13922	protein_coding	YES	CCDS34422.1	ENSP00000415517	Q5SRN2		UPI0000470279	NM_006781.4	deleterious(0)		23/23		hmmpanther:PTHR14368											1						MODERATE		SNV	5		1	1										PASS		.	.												A	3	1	81	32293212	32293212	T	A	1	0	0	0	0	1	0	0	0	2113	1606	56	4		4	C6orf10	6	32293212	Missense_Mutation	SNP	T	C3N-01489_TP	4066095	32293212	138512767	280	26826											
ITPR3	0	.	GRCh38	chr6	33679972	33679972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaaggccgcccgcgacGgcgtggaggaccacagcccc	8	3	15	15	5	0	2	0	2	0	0	0	5	0	4	5	4	1	0	5	4	1	0	rs537066535		C3N-01489_TP	C3N-01489_NB	G	G																c.4063G>T	p.Gly1355Cys	p.G1355C	ENST00000374316	32/59	287	218	69	393	392	1	strelka-varscan-mutect	ITPR3,missense_variant,p.Gly1355Cys,ENST00000374316,;ITPR3,missense_variant,p.Gly1355Cys,ENST00000605930,NM_002224.3;	T	ENST00000374316	Transcript	missense_variant	5123/9870	4063/8016	1355/2671	G/C	Ggc/Tgc	rs537066535	1		1	ITPR3	HGNC	HGNC:6182	protein_coding	YES	CCDS4783.1	ENSP00000363435	Q14573		UPI000013CB74		tolerated(0.08)		32/59		hmmpanther:PTHR13715:SF51,hmmpanther:PTHR13715																	MODERATE	1	SNV	5			1										PASS		rs537066535	.												T	3	4	81	33679972	33679972	G	T	1	0	0	0	0	1	0	0	0	7828	1116	39	1		1	ITPR3	6	33679972	Missense_Mutation	SNP	G	C3N-01489_TP	1386760	33679972	137126007	281	26827											
GRM4	0	.	GRCh38	chr6	34058977	34058977	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccgcccagccttacctcGtacggacatcctcttgggga	7	8	9	17	3	1	0	0	0	1	0	3	2	2	2	5	3	3	1	5	3	2	3	rs751686429		C3N-01489_TP	C3N-01489_NB	G	G																c.1024C>T	p.Arg342Ter	p.R342*	ENST00000538487	5/11	96	86	10	137	137	0	strelka-varscan-mutect	GRM4,stop_gained,p.Arg342Ter,ENST00000374181,NM_001256811.2;GRM4,stop_gained,p.Arg209Ter,ENST00000535756,NM_001256813.2;GRM4,stop_gained,p.Arg342Ter,ENST00000538487,NM_000841.3;GRM4,stop_gained,p.Arg273Ter,ENST00000374177,NM_001256809.2;GRM4,stop_gained,p.Arg209Ter,ENST00000609222,;GRM4,stop_gained,p.Arg173Ter,ENST00000544773,NM_001256812.2;GRM4,stop_gained,p.Arg202Ter,ENST00000455714,;GRM4,stop_gained,p.Arg34Ter,ENST00000609443,;GRM4,non_coding_transcript_exon_variant,,ENST00000545715,;GRM4,upstream_gene_variant,,ENST00000609915,;GRM4,3_prime_UTR_variant,,ENST00000609278,;GRM4,non_coding_transcript_exon_variant,,ENST00000609973,;GRM4,non_coding_transcript_exon_variant,,ENST00000609860,;	A	ENST00000538487	Transcript	stop_gained	1468/4153	1024/2739	342/912	R/*	Cga/Tga	rs751686429,COSM4430245,COSM4430246,COSM4430247	1		-1	GRM4	HGNC	HGNC:4596	protein_coding	YES	CCDS4787.1	ENSP00000440556	Q14833	A1L4F9	UPI000004A7DE	NM_000841.3			5/11		Pfam_domain:PF01094,Prints_domain:PR00593,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF23,Superfamily_domains:SSF53822											0,1,1,1						HIGH	1	SNV	2		0,1,1,1	1										PASS		rs751686429	.												A	4	1	81	34058977	34058977	G	A	1	0	0	0	0	0	1	0	0	6681	1159	40	1		1	GRM4	6	34058977	Nonsense_Mutation	SNP	G	C3N-01489_TP	379005	34058977	136747002	282	26828											
DNAH8	0	.	GRCh38	chr6	38837985	38837985	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttgttacgtattcatCtggtgaacaactttttggat	11	17	8	5	1	2	1	1	1	1	0	2	3	2	2	0	2	3	2	0	2	5	6	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.4409C>A	p.Ser1470Tyr	p.S1470Y	ENST00000327475	33/93	275	216	59	295	295	0	strelka-varscan-mutect	DNAH8,missense_variant,p.Ser1470Tyr,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Ser1253Tyr,ENST00000359357,;DNAH8,missense_variant,p.Ser1470Tyr,ENST00000449981,;	A	ENST00000327475	Transcript	missense_variant	4518/14360	4409/14124	1470/4707	S/Y	tCt/tAt		1		1	DNAH8	HGNC	HGNC:2952	protein_coding	YES	CCDS75447.1	ENSP00000333363		A0A075B6F3	UPI000179A984	NM_001206927.1	deleterious(0)		33/93		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF280																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	81	38837985	38837985	C	A	1	0	0	0	0	1	0	0	0	4422	913	32	2		2	DNAH8	6	38837985	Missense_Mutation	SNP	C	C3N-01489_TP	4779008	38837985	131967994	283	26829											
KLC4	0	.	GRCh38	chr6	43071864	43071864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgcagagccggcaccatGagggtgggacaccctatgct	8	7	13	13	1	0	2	0	1	0	1	1	3	1	3	4	3	3	3	4	3	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1375G>C	p.Glu459Gln	p.E459Q	ENST00000259708	11/16	118	111	7	178	178	0	strelka-varscan-mutect	KLC4,missense_variant,p.Glu441Gln,ENST00000394056,NM_201522.2;KLC4,missense_variant,p.Glu459Gln,ENST00000259708,NM_201523.2;KLC4,missense_variant,p.Glu441Gln,ENST00000479388,NM_001289034.1;KLC4,missense_variant,p.Glu441Gln,ENST00000347162,NM_201521.2;KLC4,missense_variant,p.Glu364Gln,ENST00000453940,NM_001289035.1;PTK7,upstream_gene_variant,,ENST00000230419,NM_002821.4;PTK7,upstream_gene_variant,,ENST00000345201,NM_152880.3;PTK7,upstream_gene_variant,,ENST00000352931,NM_152882.3;PTK7,upstream_gene_variant,,ENST00000349241,NM_152881.3;PTK7,upstream_gene_variant,,ENST00000481273,NM_001270398.1;PTK7,upstream_gene_variant,,ENST00000471863,;KLC4,downstream_gene_variant,,ENST00000458460,NM_138343.3;PTK7,upstream_gene_variant,,ENST00000476760,;KLC4,downstream_gene_variant,,ENST00000470728,;RP11-387M24.5,downstream_gene_variant,,ENST00000606123,;KLC4,3_prime_UTR_variant,,ENST00000467906,;KLC4,non_coding_transcript_exon_variant,,ENST00000463063,;KLC4,intron_variant,,ENST00000469987,;PTK7,upstream_gene_variant,,ENST00000487673,;PTK7,upstream_gene_variant,,ENST00000470019,;PTK7,upstream_gene_variant,,ENST00000230418,;KLC4,upstream_gene_variant,,ENST00000486439,;KLC4,upstream_gene_variant,,ENST00000463168,;	C	ENST00000259708	Transcript	missense_variant	1728/2688	1375/1914	459/637	E/Q	Gag/Cag		1		1	KLC4	HGNC	HGNC:21624	protein_coding	YES	CCDS4882.1	ENSP00000259708	Q9NSK0		UPI000023C3DA	NM_201523.2	tolerated(0.17)		11/16		hmmpanther:PTHR19959:SF139,hmmpanther:PTHR19959																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	81	43071864	43071864	G	C	1	0	0	0	0	1	0	0	0	8201	1291	45	4		4	KLC4	6	43071864	Missense_Mutation	SNP	G	C3N-01489_TP	4233879	43071864	127734115	284	26830											
VEGFA	0	.	GRCh38	chr6	43784545	43784545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccatttccctcagatgtGacaagccgaggcggtgagcc	8	10	11	12	2	1	3	1	2	0	1	3	4	3	3	4	2	2	0	4	2	1	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1222G>T	p.Asp408Tyr	p.D408Y	ENST00000611736	8/8	528	429	99	679	679	0	strelka-varscan-mutect	VEGFA,stop_lost,p.Ter355LeuextTer?,ENST00000417285,NM_001025369.2;VEGFA,stop_lost,p.Ter175LeuextTer?,ENST00000523125,NM_001171627.1;VEGFA,missense_variant,p.Asp408Tyr,ENST00000611736,NM_001025366.2;VEGFA,missense_variant,p.Asp367Tyr,ENST00000621747,NM_001317010.1,NM_001025368.2;VEGFA,missense_variant,p.Asp367Tyr,ENST00000372067,;VEGFA,missense_variant,p.Asp323Tyr,ENST00000615393,NM_001025370.2;VEGFA,missense_variant,p.Asp313Tyr,ENST00000617771,NM_001171622.1;VEGFA,missense_variant,p.Asp323Tyr,ENST00000372064,;VEGFA,missense_variant,p.Asp143Tyr,ENST00000372077,NM_001171628.1;VEGFA,missense_variant,p.Asp391Tyr,ENST00000425836,NM_003376.5;VEGFA,missense_variant,p.Asp408Tyr,ENST00000372055,;VEGFA,missense_variant,p.Asp211Tyr,ENST00000520948,NM_001171624.1;VEGFA,missense_variant,p.Asp385Tyr,ENST00000413642,NM_001025367.2;VEGFA,missense_variant,p.Asp159Tyr,ENST00000230480,NM_001287044.1;VEGFA,missense_variant,p.Asp319Tyr,ENST00000519767,NM_001204384.1,NM_001204385.1;VEGFA,missense_variant,p.Asp313Tyr,ENST00000324450,;VEGFA,missense_variant,p.Asp187Tyr,ENST00000523950,NM_001171626.1;VEGFA,missense_variant,p.Asp228Tyr,ENST00000523873,NM_001171623.1;VEGFA,missense_variant,p.Asp205Tyr,ENST00000518689,NM_001171625.1;VEGFA,missense_variant,p.Asp133Tyr,ENST00000457104,NM_001171630.1;VEGFA,missense_variant,p.Asp107Tyr,ENST00000520265,;VEGFA,intron_variant,,ENST00000482630,NM_001033756.2;VEGFA,intron_variant,,ENST00000518824,NM_001171629.1;VEGFA,non_coding_transcript_exon_variant,,ENST00000480614,;VEGFA,non_coding_transcript_exon_variant,,ENST00000497139,;VEGFA,non_coding_transcript_exon_variant,,ENST00000493786,;	T	ENST00000611736	Transcript	missense_variant	1720/3659	1222/1239	408/412	D/Y	Gac/Tac		1		1	VEGFA	HGNC	HGNC:12680	protein_coding	YES	CCDS34457.1	ENSP00000478570		J3KPA4	UPI0000D61463	NM_001025366.2	deleterious(0)		8/8		hmmpanther:PTHR12025:SF5,hmmpanther:PTHR12025,Pfam_domain:PF14554,Gene3D:1kmxA00,Superfamily_domains:0044742																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	43784545	43784545	G	T	1	0	0	0	0	1	0	0	0	17695	1304	45	2		2	VEGFA	6	43784545	Missense_Mutation	SNP	G	C3N-01489_TP	712681	43784545	127021434	285	26831											
RHAG	0	.	GRCh38	chr6	49612444	49612444	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccattcctgcaatgctccCaataatcatagaaccaaatg	15	9	5	12	0	1	1	1	0	0	1	3	2	3	1	4	0	3	2	4	0	6	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.898G>C	p.Gly300Arg	p.G300R	ENST00000371175	6/10	401	362	39	537	537	0	strelka-varscan-mutect	RHAG,missense_variant,p.Gly300Arg,ENST00000371175,NM_000324.2;RHAG,missense_variant,p.Gly300Arg,ENST00000229810,;RHAG,missense_variant,p.Gly300Arg,ENST00000618248,;	G	ENST00000371175	Transcript	missense_variant	925/1912	898/1230	300/409	G/R	Ggg/Cgg		1		-1	RHAG	HGNC	HGNC:10006	protein_coding	YES	CCDS4927.1	ENSP00000360217	Q02094		UPI000006D18F	NM_000324.2	deleterious(0)		6/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR11730:SF32,hmmpanther:PTHR11730,Pfam_domain:PF00909,Gene3D:1.10.3430.10,Superfamily_domains:0044218,Prints_domain:PR00342																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	49612444	49612444	C	G	1	0	0	0	0	1	0	0	0	13487	594	21	4		4	RHAG	6	49612444	Missense_Mutation	SNP	C	C3N-01489_TP	5827899	49612444	121193535	286	26832											
PKHD1	0	.	GRCh38	chr6	51934122	51934122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactcaccgtgcagagaaaGagttccattcctcacagcca	12	8	7	14	1	3	2	3	0	0	2	5	3	5	2	4	0	2	2	4	0	1	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.6109C>T	p.Leu2037Phe	p.L2037F	ENST00000371117	37/67	430	376	54	623	623	0	strelka-varscan-mutect	PKHD1,missense_variant,p.Leu2037Phe,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Leu2037Phe,ENST00000340994,NM_170724.2;	A	ENST00000371117	Transcript	missense_variant	6385/16282	6109/12225	2037/4074	L/F	Ctt/Ttt		1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3	deleterious(0.02)		37/67		PROSITE_profiles:PS51484,Pfam_domain:PF10162,SMART_domains:SM01225																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	51934122	51934122	G	A	1	0	0	0	0	1	0	0	0	12067	942	33	3		3	PKHD1	6	51934122	Missense_Mutation	SNP	G	C3N-01489_TP	2321678	51934122	118871857	287	26833											
DST	0	.	GRCh38	chr6	56471209	56471209	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgagatttcttgtgattCatccatcgcatgtatttttt	8	19	6	8	2	2	2	1	1	1	1	5	3	3	2	1	0	0	2	1	0	1	7	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.15447G>T	p.Met5149Ile	p.M5149I	ENST00000312431	87/95	173	153	20	252	252	0	strelka-varscan-mutect	DST,missense_variant,p.Met7086Ile,ENST00000361203,;DST,missense_variant,p.Met5109Ile,ENST00000421834,NM_183380.3;DST,missense_variant,p.Met5149Ile,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,missense_variant,p.Met5000Ile,ENST00000370788,;DST,missense_variant,p.Met4783Ile,ENST00000244364,NM_015548.4;DST,upstream_gene_variant,,ENST00000523292,;DST,downstream_gene_variant,,ENST00000523943,;DST,upstream_gene_variant,,ENST00000523597,;DST,upstream_gene_variant,,ENST00000482156,;DST,downstream_gene_variant,,ENST00000517840,;DST,downstream_gene_variant,,ENST00000492944,;	A	ENST00000312431	Transcript	missense_variant	15573/17756	15447/16614	5149/5537	M/I	atG/atT		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1	deleterious(0)		87/95		hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	81	56471209	56471209	C	A	1	0	0	0	0	1	0	0	0	4604	826	29	2		2	DST	6	56471209	Missense_Mutation	SNP	C	C3N-01489_TP	4537087	56471209	114334770	288	26834											
DST	0	.	GRCh38	chr6	56634861	56634861	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttttgagtggacagtcAgaattccttggcttcagttg	9	14	12	6	0	2	2	2	1	0	1	3	4	3	3	1	2	0	3	1	2	2	6	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.2766T>A	p.=	p.S922S	ENST00000312431	22/95	268	237	31	393	393	0	strelka-varscan-mutect	DST,synonymous_variant,p.=,ENST00000361203,;DST,synonymous_variant,p.=,ENST00000421834,NM_183380.3;DST,synonymous_variant,p.=,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,synonymous_variant,p.=,ENST00000370788,;DST,synonymous_variant,p.=,ENST00000244364,NM_015548.4;DST,synonymous_variant,p.=,ENST00000439203,;DST,synonymous_variant,p.=,ENST00000370765,NM_001723.5;DST,synonymous_variant,p.=,ENST00000520645,;DST,synonymous_variant,p.=,ENST00000518935,;DST,downstream_gene_variant,,ENST00000521104,;DST,downstream_gene_variant,,ENST00000523967,;	T	ENST00000312431	Transcript	synonymous_variant	2892/17756	2766/16614	922/5537	S	tcT/tcA		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1			22/95		hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915,Superfamily_domains:SSF46966																	LOW	1	SNV	5			1										PASS		rs928254579	.												T	2	4	81	56634861	56634861	A	T	1	0	0	0	0	0	0	0	1	4604	175	7	4		4	DST	6	56634861	Silent	SNP	A	C3N-01489_TP	163652	56634861	114171118	289	26835											
KHDC1L	0	.	GRCh38	chr6	73224335	73224335	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcaatgcagcgaaggtaCgtgtcatcaagtcctgtaag	12	9	11	9	2	3	0	3	0	0	0	4	1	4	0	1	1	4	4	1	1	5	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.126G>T	p.=	p.T42T	ENST00000370388	2/3	61	52	9	83	82	1	strelka-varscan	KHDC1L,synonymous_variant,p.=,ENST00000370388,NM_001126063.2;KHDC1L,non_coding_transcript_exon_variant,,ENST00000471312,;RP11-257K9.8,missense_variant,p.Arg145Leu,ENST00000423730,;	A	ENST00000370388	Transcript	synonymous_variant	170/635	126/387	42/128	T	acG/acT		1		-1	KHDC1L	HGNC	HGNC:37274	protein_coding	YES	CCDS47450.1	ENSP00000359415	Q5JSQ8		UPI0000070CED	NM_001126063.2			2/3		Pfam_domain:PF16005,hmmpanther:PTHR31368,hmmpanther:PTHR31368:SF5																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	73224335	73224335	C	A	1	0	0	0	0	0	0	0	1	8065	523	19	1		1	KHDC1L	6	73224335	Silent	SNP	C	C3N-01489_TP	16589474	73224335	97581644	290	26836											
PHIP	0	.	GRCh38	chr6	78997599	78997599	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggtagaacttatggagccTaagtgaaaaagttactatat	16	11	10	4	0	0	2	0	1	0	1	0	4	0	3	1	2	3	2	1	2	9	6	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.2018-2A>G		p.X673_splice	ENST00000275034		86	71	15	130	130	0	strelka-varscan	PHIP,splice_acceptor_variant,,ENST00000275034,NM_017934.5;	C	ENST00000275034	Transcript	splice_acceptor_variant	-/10460	2018/5466	673/1821				1		-1	PHIP	HGNC	HGNC:15673	protein_coding	YES	CCDS4987.1	ENSP00000275034	Q8WWQ0		UPI000013DA40	NM_017934.5				18/39																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	81	78997599	78997599	T	C	1	0	0	0	0	0	0	1	0	11930	1536	53	5		5	PHIP	6	78997599	Splice_Site	SNP	T	C3N-01489_TP	5773264	78997599	91808380	291	26837											
MDN1	0	.	GRCh38	chr6	89794795	89794795	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtccttgaaatatctcagGgcaaaccttcaaacacaaag	15	9	7	10	0	2	1	2	1	1	0	4	1	3	1	2	1	2	1	2	1	5	3			C3N-01489_TP	C3N-01489_NB	G	G																c.336C>T	p.=	p.A112A	ENST00000369393	3/102	119	104	15	185	185	0	strelka-varscan-mutect	MDN1,synonymous_variant,p.=,ENST00000369393,NM_014611.2;MDN1,synonymous_variant,p.=,ENST00000629399,;MDN1,synonymous_variant,p.=,ENST00000439638,;DNAJC19P6,upstream_gene_variant,,ENST00000401853,;	A	ENST00000369393	Transcript	synonymous_variant	452/18413	336/16791	112/5596	A	gcC/gcT	COSM1622033	1		-1	MDN1	HGNC	HGNC:18302	protein_coding	YES	CCDS5024.1	ENSP00000358400	Q9NU22		UPI000013C4B8	NM_014611.2			3/102		hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF64											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	81	89794795	89794795	G	A	1	0	0	0	0	0	0	0	1	9353	1219	43	3		3	MDN1	6	89794795	Silent	SNP	G	C3N-01489_TP	10797196	89794795	81011184	292	26838											
GPR63	0	.	GRCh38	chr6	96799581	96799581	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaaaccagtgggagccaTggtttcaaaactatatctaa	15	10	7	9	0	3	0	2	0	1	0	3	1	3	1	2	2	3	1	2	2	6	4	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.151A>T	p.Met51Leu	p.M51L	ENST00000229955	2/2	187	163	24	340	339	1	strelka-varscan-mutect	GPR63,missense_variant,p.Met51Leu,ENST00000229955,NM_030784.3,NM_001143957.2;RP3-417O22.3,downstream_gene_variant,,ENST00000442184,;	A	ENST00000229955	Transcript	missense_variant	497/5952	151/1260	51/419	M/L	Atg/Ttg		1		-1	GPR63	HGNC	HGNC:13302	protein_coding	YES	CCDS5036.1	ENSP00000229955	Q9BZJ6	A8K1C4	UPI0000037594	NM_030784.3,NM_001143957.2	tolerated_low_confidence(0.81)		2/2		hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF1																	MODERATE	1	SNV	1			1										PASS		rs1214668880	.												A	3	1	81	96799581	96799581	T	A	1	0	0	0	0	1	0	0	0	6588	1464	51	4		4	GPR63	6	96799581	Missense_Mutation	SNP	T	C3N-01489_TP	7004786	96799581	74006398	293	26839											
HS3ST5	0	.	GRCh38	chr6	114057431	114057431	+	Silent	SNP	G	G	T																															cgcaagcagtaaaaccctctGgtagcattgaagtataaatt																								novel		C3N-01489_TP	C3N-01489_NB	G	G																c.867C>A	p.=	p.T289T	ENST00000312719	5/5	159	142	17	228	227	1	strelka-varscan-mutect	HS3ST5,synonymous_variant,p.=,ENST00000312719,;HS3ST5,synonymous_variant,p.=,ENST00000411826,NM_153612.3;RP3-399L15.3,intron_variant,,ENST00000519104,;RP3-399L15.3,intron_variant,,ENST00000519270,;RP3-399L15.3,intron_variant,,ENST00000523087,;	T	ENST00000312719	Transcript	synonymous_variant	2056/3901	867/1041	289/346	T	acC/acA		1		-1	HS3ST5	HGNC	HGNC:19419	protein_coding	YES	CCDS34517.1	ENSP00000427888	Q8IZT8		UPI00000740A8				5/5		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF46,Superfamily_domains:SSF52540																	LOW		SNV	2			1										PASS		.	.												T	2	4	81	114057431	114057431	G	T	1	0	0	0	0	0	0	0	1	7262	1335	47	2		2	HS3ST5	6	114057431	Silent	SNP	G	C3N-01489_TP	17257850	114057431	56748548	294	26840	570	2									
HS3ST5	0	.	GRCh38	chr6	114057432	114057432	+	Missense_Mutation	SNP	G	G	T																															gcaagcagtaaaaccctctgGtagcattgaagtataaattg																								novel		C3N-01489_TP	C3N-01489_NB	G	G																c.866C>A	p.Thr289Asn	p.T289N	ENST00000312719	5/5	156	137	19	222	221	1	strelka-varscan-mutect	HS3ST5,missense_variant,p.Thr289Asn,ENST00000312719,;HS3ST5,missense_variant,p.Thr289Asn,ENST00000411826,NM_153612.3;RP3-399L15.3,intron_variant,,ENST00000519104,;RP3-399L15.3,intron_variant,,ENST00000519270,;RP3-399L15.3,intron_variant,,ENST00000523087,;	T	ENST00000312719	Transcript	missense_variant	2055/3901	866/1041	289/346	T/N	aCc/aAc		1		-1	HS3ST5	HGNC	HGNC:19419	protein_coding	YES	CCDS34517.1	ENSP00000427888	Q8IZT8		UPI00000740A8		deleterious(0)		5/5		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF46,Superfamily_domains:SSF52540																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	81	114057432	114057432	G	T	1	0	0	0	0	1	0	0	0	7262	1261	44	2		2	HS3ST5	6	114057432	Missense_Mutation	SNP	G	C3N-01489_TP	1	114057432	56748547	295	26841	570	2									
GJA1	0	.	GRCh38	chr6	121447764	121447764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattacaacaagcaagcaaGtgagcaaaactgggctaatt	18	7	8	8	0	0	1	0	1	0	0	0	1	0	1	0	1	6	4	0	1	9	3			C3N-01489_TP	C3N-01489_NB	G	G																c.917G>A	p.Ser306Asn	p.S306N	ENST00000282561	2/2	324	284	40	551	551	0	strelka-varscan-mutect	GJA1,missense_variant,p.Ser306Asn,ENST00000282561,NM_000165.4;	A	ENST00000282561	Transcript	missense_variant	1074/3037	917/1149	306/382	S/N	aGt/aAt	COSM5300405	1		1	GJA1	HGNC	HGNC:4274	protein_coding	YES	CCDS5123.1	ENSP00000282561	P17302		UPI000013DCEC	NM_000165.4	tolerated(0.4)		2/2		hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF33,Pfam_domain:PF03508,Superfamily_domains:0049114,Prints_domain:PR01132											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	81	121447764	121447764	G	A	1	0	0	0	0	1	0	0	0	6280	1029	36	3		3	GJA1	6	121447764	Missense_Mutation	SNP	G	C3N-01489_TP	7390332	121447764	49358215	296	26842											
TAAR2	0	.	GRCh38	chr6	132617653	132617653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagccctctattccatctgCataggcctctgagaagacca	11	10	7	13	0	3	2	0	1	3	2	4	3	4	2	4	1	2	1	4	1	4	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.553G>T	p.Ala185Ser	p.A185S	ENST00000367931	2/2	160	137	23	273	273	0	strelka-varscan	TAAR2,missense_variant,p.Ala140Ser,ENST00000275191,NM_014626.3;TAAR2,missense_variant,p.Ala185Ser,ENST00000367931,NM_001033080.1;	A	ENST00000367931	Transcript	missense_variant	553/1056	553/1056	185/351	A/S	Gca/Tca		1		-1	TAAR2	HGNC	HGNC:4514	protein_coding	YES	CCDS34541.1	ENSP00000356908	Q9P1P5		UPI000048F3E6	NM_001033080.1	tolerated(0.41)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF30,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	132617653	132617653	C	A	1	0	0	0	0	1	0	0	0	15886	710	25	2		2	TAAR2	6	132617653	Missense_Mutation	SNP	C	C3N-01489_TP	11169889	132617653	38188326	297	26843											
FBXO30	0	.	GRCh38	chr6	145806278	145806278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgctcatcagctttacaaGaatggaaaactgcaccacaa	16	8	7	10	0	2	1	2	0	0	1	2	3	2	2	1	1	5	3	1	1	6	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.128C>T	p.Ser43Phe	p.S43F	ENST00000237281	2/3	192	167	25	307	307	0	strelka-varscan	FBXO30,missense_variant,p.Ser43Phe,ENST00000237281,NM_032145.4;RP11-545I5.3,intron_variant,,ENST00000629681,;	A	ENST00000237281	Transcript	missense_variant	295/9009	128/2238	43/745	S/F	tCt/tTt		1		-1	FBXO30	HGNC	HGNC:15600	protein_coding	YES	CCDS5208.1	ENSP00000237281	Q8TB52		UPI0000071E84	NM_032145.4	deleterious(0.03)		2/3		Pfam_domain:PF15965,hmmpanther:PTHR15933,hmmpanther:PTHR15933:SF13,Superfamily_domains:SSF49599																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	145806278	145806278	G	A	1	0	0	0	0	1	0	0	0	5603	942	33	3		3	FBXO30	6	145806278	Missense_Mutation	SNP	G	C3N-01489_TP	13188625	145806278	24999701	298	26844											
EIF3B	0	.	GRCh38	chr7	2379172	2379172	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcaccatgatggaagatttCcggaagtaccggaaaatggc	13	7	12	9	3	0	2	0	1	0	1	1	5	1	5	3	4	1	2	3	4	5	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2271C>T	p.=	p.F757F	ENST00000360876	17/19	173	118	55	215	215	0	strelka-varscan-mutect	EIF3B,synonymous_variant,p.=,ENST00000360876,NM_001037283.1;EIF3B,synonymous_variant,p.=,ENST00000397011,NM_003751.3;AC004840.8,upstream_gene_variant,,ENST00000443103,;EIF3B,non_coding_transcript_exon_variant,,ENST00000475415,;EIF3B,non_coding_transcript_exon_variant,,ENST00000465670,;EIF3B,non_coding_transcript_exon_variant,,ENST00000468611,;EIF3B,non_coding_transcript_exon_variant,,ENST00000494658,;AC004840.8,upstream_gene_variant,,ENST00000636359,;	T	ENST00000360876	Transcript	synonymous_variant	2327/3055	2271/2445	757/814	F	ttC/ttT		1		1	EIF3B	HGNC	HGNC:3280	protein_coding	YES	CCDS5332.1	ENSP00000354125	P55884	A0A024R821	UPI000013F934	NM_001037283.1			17/19		HAMAP:MF_03001,hmmpanther:PTHR14068:SF0,hmmpanther:PTHR14068,PIRSF_domain:PIRSF036424																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	2379172	2379172	C	T	1	0	0	0	0	0	0	0	1	4847	854	30	3		3	EIF3B	7	2379172	Silent	SNP	C	C3N-01489_TP		2379172	156966801	299	26845											
MMD2	0	.	GRCh38	chr7	4907582	4907582	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctccggtcaccagctcccaGatgccctcggtgttgggctg	4	9	12	16	2	1	1	1	0	0	1	4	1	3	1	5	3	2	3	5	3	0	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.627C>G	p.Ile209Met	p.I209M	ENST00000404774	7/7	232	177	55	295	295	0	strelka-varscan-mutect	MMD2,missense_variant,p.Ile209Met,ENST00000404774,NM_001100600.1;MMD2,missense_variant,p.Ile185Met,ENST00000401401,NM_198403.3;MMD2,3_prime_UTR_variant,,ENST00000406755,NM_001270375.1;MMD2,downstream_gene_variant,,ENST00000612910,;	C	ENST00000404774	Transcript	missense_variant	822/2415	627/813	209/270	I/M	atC/atG		1		-1	MMD2	HGNC	HGNC:30133	protein_coding	YES	CCDS47529.1	ENSP00000384690	Q8IY49		UPI000016199F	NM_001100600.1	tolerated(0.25)		7/7		Transmembrane_helices:TMhelix,hmmpanther:PTHR20855:SF21,hmmpanther:PTHR20855,Pfam_domain:PF03006																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	4907582	4907582	G	C	1	0	0	0	0	1	0	0	0	9607	932	33	4		4	MMD2	7	4907582	Missense_Mutation	SNP	G	C3N-01489_TP	2528410	4907582	154438391	300	26846											
COL28A1	0	.	GRCh38	chr7	7456087	7456087	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggatacccattggtcctTggggtcccacaggtcctata	8	10	11	12	0	0	0	0	0	0	0	3	1	3	1	4	5	1	0	4	5	3	5	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.1328A>G	p.Gln443Arg	p.Q443R	ENST00000399429	16/35	224	210	14	277	277	0	strelka-varscan-mutect	COL28A1,missense_variant,p.Gln443Arg,ENST00000399429,NM_001037763.2;COL28A1,3_prime_UTR_variant,,ENST00000444268,;	C	ENST00000399429	Transcript	missense_variant	1469/4277	1328/3378	443/1125	Q/R	cAa/cGa		1		-1	COL28A1	HGNC	HGNC:22442	protein_coding	YES	CCDS43553.1	ENSP00000382356	Q2UY09		UPI000155D64E	NM_001037763.2	tolerated(0.78)		16/35		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF578																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	7456087	7456087	T	C	1	0	0	0	0	1	0	0	0	3475	1812	63	5		5	COL28A1	7	7456087	Missense_Mutation	SNP	T	C3N-01489_TP	2548505	7456087	151889886	301	26847											
ICA1	0	.	GRCh38	chr7	8218392	8218392	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagtgctcctctatattcCgtcctgcactgttccatgcg	7	14	7	13	2	1	0	0	0	1	0	5	0	5	0	4	0	3	3	4	0	4	5	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.492G>T	p.=	p.T164T	ENST00000402384	6/14	432	396	36	563	563	0	strelka-varscan-mutect	ICA1,synonymous_variant,p.=,ENST00000402384,NM_001136020.2;ICA1,synonymous_variant,p.=,ENST00000406470,NM_004968.3;ICA1,synonymous_variant,p.=,ENST00000265577,NM_001276478.1;ICA1,synonymous_variant,p.=,ENST00000396675,NM_022307.2;ICA1,synonymous_variant,p.=,ENST00000401396,;ICA1,synonymous_variant,p.=,ENST00000407906,;ICA1,synonymous_variant,p.=,ENST00000422063,;ICA1,synonymous_variant,p.=,ENST00000317367,;ICA1,downstream_gene_variant,,ENST00000447326,;ICA1,downstream_gene_variant,,ENST00000430867,;ICA1,intron_variant,,ENST00000486677,;ICA1,downstream_gene_variant,,ENST00000476942,;ICA1,synonymous_variant,p.=,ENST00000339809,;ICA1,3_prime_UTR_variant,,ENST00000455539,;ICA1,non_coding_transcript_exon_variant,,ENST00000490041,;ICA1,downstream_gene_variant,,ENST00000457755,;	A	ENST00000402384	Transcript	synonymous_variant	759/2458	492/1452	164/483	T	acG/acT		1		-1	ICA1	HGNC	HGNC:5343	protein_coding	YES	CCDS34602.1	ENSP00000385570	Q05084	A0A024RA29	UPI000012D139	NM_001136020.2			6/14		Gene3D:1.20.1270.60,Pfam_domain:PF06456,PROSITE_profiles:PS50870,hmmpanther:PTHR10164,hmmpanther:PTHR10164:SF3,SMART_domains:SM01015,Superfamily_domains:SSF103657																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	81	8218392	8218392	C	A	1	0	0	0	0	0	0	0	1	7377	639	23	1		1	ICA1	7	8218392	Silent	SNP	C	C3N-01489_TP	762305	8218392	151127581	302	26848											
HDAC9	0	.	GRCh38	chr7	18835991	18835991	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgttgagtaccttgaagCattcaggttggtacttcttt	9	16	10	6	0	2	3	1	2	1	1	2	3	2	3	1	2	3	5	1	2	3	8	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2678C>G	p.Ala893Gly	p.A893G	ENST00000441542	20/25	132	118	14	157	157	0	strelka-varscan	HDAC9,missense_variant,p.Ala890Gly,ENST00000406451,NM_001321897.1,NM_178423.1;HDAC9,missense_variant,p.Ala849Gly,ENST00000401921,;HDAC9,missense_variant,p.Ala893Gly,ENST00000441542,NM_178425.2;HDAC9,missense_variant,p.Ala890Gly,ENST00000432645,NM_058176.2;HDAC9,non_coding_transcript_exon_variant,,ENST00000483142,;HDAC9,non_coding_transcript_exon_variant,,ENST00000490851,;HDAC9,downstream_gene_variant,,ENST00000523867,;	G	ENST00000441542	Transcript	missense_variant	2678/3210	2678/3210	893/1069	A/G	gCa/gGa		1		1	HDAC9	HGNC	HGNC:14065	protein_coding	YES	CCDS47553.1	ENSP00000408617	Q9UKV0		UPI000019AB75	NM_178425.2	deleterious(0)		20/25		hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF136,Gene3D:3.40.800.20,Pfam_domain:PF00850,PIRSF_domain:PIRSF037911,Superfamily_domains:SSF52768																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	18835991	18835991	C	G	1	0	0	0	0	1	0	0	0	6901	710	25	4		4	HDAC9	7	18835991	Missense_Mutation	SNP	C	C3N-01489_TP	10617599	18835991	140509982	303	26849											
HOXA7	0	.	GRCh38	chr7	27156195	27156195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcatccaggggtagatgcgGaaattggcctcagccgcgcc	8	6	14	13	4	1	1	1	0	0	1	2	2	2	2	4	4	2	2	4	4	2	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.351C>A	p.Phe117Leu	p.F117L	ENST00000242159	1/2	74	58	16	80	80	0	strelka-varscan	HOXA7,missense_variant,p.Phe117Leu,ENST00000242159,NM_006896.3;HOXA7,downstream_gene_variant,,ENST00000519842,;HOXA-AS3,downstream_gene_variant,,ENST00000518947,;HOXA-AS3,downstream_gene_variant,,ENST00000524304,;HOXA-AS3,downstream_gene_variant,,ENST00000521197,;RP1-170O19.24,upstream_gene_variant,,ENST00000602610,;HOXA-AS3,downstream_gene_variant,,ENST00000521231,;HOXA-AS3,downstream_gene_variant,,ENST00000518848,;RP1-170O19.22,upstream_gene_variant,,ENST00000467897,;HOXA3,upstream_gene_variant,,ENST00000518451,;HOXA7,upstream_gene_variant,,ENST00000523796,;RP1-170O19.23,upstream_gene_variant,,ENST00000498652,;	T	ENST00000242159	Transcript	missense_variant	483/2018	351/693	117/230	F/L	ttC/ttA		1		-1	HOXA7	HGNC	HGNC:5108	protein_coding	YES	CCDS5408.1	ENSP00000242159	P31268		UPI000013CAF3	NM_006896.3	tolerated(0.44)		1/2		hmmpanther:PTHR24326:SF293,hmmpanther:PTHR24326																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	27156195	27156195	G	T	1	0	0	0	0	1	0	0	0	7191	1165	41	2		2	HOXA7	7	27156195	Missense_Mutation	SNP	G	C3N-01489_TP	8320204	27156195	132189778	304	26850											
BMPER	0	.	GRCh38	chr7	34085904	34085904	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacttcaagtttgatgtGgatgactttgctgaatcttg	10	15	11	5	0	2	3	1	3	1	0	2	5	2	5	0	2	2	2	0	2	3	4	rs868718269		C3N-01489_TP	C3N-01489_NB	G	G																c.1557G>T	p.=	p.V519V	ENST00000297161	14/16	337	266	71	501	500	1	strelka-varscan	BMPER,synonymous_variant,p.=,ENST00000297161,NM_133468.4;BMPER,non_coding_transcript_exon_variant,,ENST00000476525,;	T	ENST00000297161	Transcript	synonymous_variant	1931/5031	1557/2058	519/685	V	gtG/gtT	rs868718269,COSM3638240	1		1	BMPER	HGNC	HGNC:24154	protein_coding	YES	CCDS5442.1	ENSP00000297161	Q8N8U9	A0A090N7U6	UPI000006D462	NM_133468.4			14/16		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF272											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												T	2	4	81	34085904	34085904	G	T	1	0	0	0	0	0	0	0	1	1623	1335	47	2		2	BMPER	7	34085904	Silent	SNP	G	C3N-01489_TP	6929709	34085904	125260069	305	26851											
AOAH	0	.	GRCh38	chr7	36618336	36618336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atatggaactccatcttttgGatcgacaccctttaaaaaag	14	12	6	9	1	1	0	0	0	1	0	3	3	2	2	2	2	1	0	2	2	5	5	rs756559735		C3N-01489_TP	C3N-01489_NB	G	G																c.712C>T	p.Pro238Ser	p.P238S	ENST00000617267	10/22	122	107	15	170	170	0	strelka-varscan	AOAH,missense_variant,p.Pro238Ser,ENST00000617267,NM_001177506.1;AOAH,missense_variant,p.Pro238Ser,ENST00000617537,NM_001637.3;AOAH,missense_variant,p.Pro206Ser,ENST00000612871,NM_001177507.1;AOAH,downstream_gene_variant,,ENST00000543742,;	A	ENST00000617267	Transcript	missense_variant	1013/2398	712/2067	238/688	P/S	Cca/Tca	rs756559735,COSM3638472	1		-1	AOAH	HGNC	HGNC:548	protein_coding	YES	CCDS75584.1	ENSP00000479664		A0A087WVT3	UPI0001D043BB	NM_001177506.1	tolerated(0.08)		10/22		hmmpanther:PTHR15010											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	81	36618336	36618336	G	A	1	0	0	0	0	1	0	0	0	835	1174	41	3		3	AOAH	7	36618336	Missense_Mutation	SNP	G	C3N-01489_TP	2532432	36618336	122727637	306	26852											
MYL7	0	.	GRCh38	chr7	44140420	44140420	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcctcctctgggacactCaccttccctggtgggggtgg	4	10	13	14	0	2	0	1	0	1	0	5	1	5	1	4	5	1	1	4	5	0	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.201G>C	p.=	p.V67V	ENST00000223364	4/7	124	114	10	172	172	0	strelka-varscan	MYL7,synonymous_variant,p.=,ENST00000458240,;MYL7,synonymous_variant,p.=,ENST00000457314,;MYL7,synonymous_variant,p.=,ENST00000223364,NM_021223.2;MYL7,synonymous_variant,p.=,ENST00000447951,;MYL7,synonymous_variant,p.=,ENST00000431007,;GCK,downstream_gene_variant,,ENST00000403799,NM_000162.3;GCK,downstream_gene_variant,,ENST00000395796,NM_033508.1;GCK,downstream_gene_variant,,ENST00000345378,NM_033507.1;GCK,downstream_gene_variant,,ENST00000616242,;GCK,downstream_gene_variant,,ENST00000437084,;GCK,downstream_gene_variant,,ENST00000336642,;MYL7,upstream_gene_variant,,ENST00000446581,;MYL7,non_coding_transcript_exon_variant,,ENST00000434895,;MYL7,stop_lost,p.Ter39SerextTer41,ENST00000431289,;MYL7,non_coding_transcript_exon_variant,,ENST00000476118,;GCK,downstream_gene_variant,,ENST00000459642,;MYL7,downstream_gene_variant,,ENST00000457910,;	G	ENST00000223364	Transcript	synonymous_variant	228/612	201/528	67/175	V	gtG/gtC		1		-1	MYL7	HGNC	HGNC:21719	protein_coding	YES	CCDS5478.1	ENSP00000223364	Q01449		UPI000006FF43	NM_021223.2			4/7		PROSITE_profiles:PS50222,hmmpanther:PTHR23049,hmmpanther:PTHR23049:SF39,Pfam_domain:PF13499,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	81	44140420	44140420	C	G	1	0	0	0	0	0	0	0	1	10053	813	29	4		4	MYL7	7	44140420	Silent	SNP	C	C3N-01489_TP	7522084	44140420	115205553	307	26853											
DDX56	0	.	GRCh38	chr7	44570840	44570840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagttgctatgacacagtCgtagaagccttggttgaact	11	12	10	8	1	1	3	1	2	0	1	2	3	1	3	1	1	3	4	1	1	4	5	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.928G>T	p.Asp310Tyr	p.D310Y	ENST00000258772	7/14	164	141	23	169	167	2	strelka-varscan	DDX56,missense_variant,p.Asp310Tyr,ENST00000258772,NM_019082.3;DDX56,intron_variant,,ENST00000431640,NM_001257189.1;DDX56,upstream_gene_variant,,ENST00000448192,;DDX56,non_coding_transcript_exon_variant,,ENST00000485367,;DDX56,non_coding_transcript_exon_variant,,ENST00000467318,;DDX56,upstream_gene_variant,,ENST00000479602,;DDX56,missense_variant,p.Asp310Tyr,ENST00000421223,;DDX56,missense_variant,p.Asp264Tyr,ENST00000433257,;DDX56,3_prime_UTR_variant,,ENST00000446987,;DDX56,3_prime_UTR_variant,,ENST00000415758,;DDX56,downstream_gene_variant,,ENST00000479440,;DDX56,upstream_gene_variant,,ENST00000473924,;	A	ENST00000258772	Transcript	missense_variant	1035/2336	928/1644	310/547	D/Y	Gac/Tac		1		-1	DDX56	HGNC	HGNC:18193	protein_coding	YES	CCDS5492.1	ENSP00000258772	Q9NY93		UPI0000037BB1	NM_019082.3	deleterious(0)		7/14		Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF96,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	44570840	44570840	C	A	1	0	0	0	0	1	0	0	0	4177	884	31	1		1	DDX56	7	44570840	Missense_Mutation	SNP	C	C3N-01489_TP	430420	44570840	114775133	308	26854											
ABCA13	0	.	GRCh38	chr7	48524402	48524402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttttccagaatattattGctgtgcaagatattagtttg	10	18	8	5	0	0	2	0	0	0	2	1	2	1	2	1	0	2	4	1	0	6	8	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.14206G>T	p.Ala4736Ser	p.A4736S	ENST00000435803	54/62	207	190	17	277	277	0	strelka-varscan	ABCA13,missense_variant,p.Ala4736Ser,ENST00000435803,NM_152701.4;ABCA13,missense_variant,p.Ala2044Ser,ENST00000544596,;ABCA13,missense_variant,p.Ala509Ser,ENST00000411975,;ABCA13,downstream_gene_variant,,ENST00000435451,;ABCA13,non_coding_transcript_exon_variant,,ENST00000611776,;ABCA13,missense_variant,p.Ala1002Ser,ENST00000453246,;	T	ENST00000435803	Transcript	missense_variant	14230/17184	14206/15177	4736/5058	A/S	Gct/Tct		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4	deleterious(0.04)		54/62		PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	48524402	48524402	G	T	1	0	0	0	0	1	0	0	0	35	1319	46	2		2	ABCA13	7	48524402	Missense_Mutation	SNP	G	C3N-01489_TP	3953562	48524402	110821571	309	26855											
IKZF1	0	.	GRCh38	chr7	50387392	50387392	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgaagctataaacagCgaagctctttagaggaacat	14	8	11	8	2	1	1	0	0	1	1	1	4	1	2	1	2	5	2	1	2	7	4			C3N-01489_TP	C3N-01489_NB	C	C																c.637C>A	p.=	p.R213R	ENST00000331340	6/8	183	170	13	250	250	0	strelka-varscan	IKZF1,synonymous_variant,p.=,ENST00000331340,NM_006060.5;IKZF1,synonymous_variant,p.=,ENST00000343574,NM_001291839.1,NM_001220767.2,NM_001291841.1;IKZF1,synonymous_variant,p.=,ENST00000615491,;IKZF1,synonymous_variant,p.=,ENST00000438033,NM_001291838.1;IKZF1,intron_variant,,ENST00000357364,NM_001220768.2;IKZF1,intron_variant,,ENST00000349824,NM_001220771.2;IKZF1,intron_variant,,ENST00000440768,;IKZF1,intron_variant,,ENST00000346667,;IKZF1,intron_variant,,ENST00000439701,NM_001291837.1;IKZF1,intron_variant,,ENST00000359197,NM_001220765.2;IKZF1,intron_variant,,ENST00000612658,;IKZF1,intron_variant,,ENST00000426121,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;	A	ENST00000331340	Transcript	synonymous_variant	792/6189	637/1560	213/519	R	Cga/Aga	COSM1210465	1		1	IKZF1	HGNC	HGNC:13176	protein_coding	YES	CCDS75596.1	ENSP00000331614	Q13422		UPI000012D465	NM_006060.5			6/8		PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF36,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	81	50387392	50387392	C	A	1	0	0	0	0	0	0	0	1	7522	760	27	1		1	IKZF1	7	50387392	Silent	SNP	C	C3N-01489_TP	1862990	50387392	108958581	310	26856											
POM121L12	0	.	GRCh38	chr7	53035886	53035886	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagtgggggcgcccggTgcccagcacccacctcatcg	5	6	12	18	3	1	0	1	0	0	0	3	0	2	0	5	3	2	1	5	3	0	1	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.215T>G	p.Val72Gly	p.V72G	ENST00000408890	1/1	172	141	31	217	217	0	strelka-varscan	POM121L12,missense_variant,p.Val72Gly,ENST00000408890,NM_182595.3;	G	ENST00000408890	Transcript	missense_variant	245/1283	215/891	72/296	V/G	gTg/gGg		1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3	tolerated(0.21)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	81	53035886	53035886	T	G	1	0	0	0	0	1	0	0	0	12352	1696	59	5		5	POM121L12	7	53035886	Missense_Mutation	SNP	T	C3N-01489_TP	2648494	53035886	106310087	311	26857											
POM121L12	0	.	GRCh38	chr7	53036228	53036228	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggggcgctcagccagtgccCcaagggaagcgctaggttcg	7	5	17	12	3	1	0	1	0	0	0	2	1	1	1	3	4	3	3	3	4	3	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.557C>G	p.Pro186Arg	p.P186R	ENST00000408890	1/1	236	184	52	327	327	0	strelka-varscan	POM121L12,missense_variant,p.Pro186Arg,ENST00000408890,NM_182595.3;	G	ENST00000408890	Transcript	missense_variant	587/1283	557/891	186/296	P/R	cCc/cGc		1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3	tolerated(0.82)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	81	53036228	53036228	C	G	1	0	0	0	0	1	0	0	0	12352	623	22	4		4	POM121L12	7	53036228	Missense_Mutation	SNP	C	C3N-01489_TP	342	53036228	106309745	312	26858											
GBAS	0	.	GRCh38	chr7	55984866	55984866	+	Frame_Shift_Del	DEL	G	G	-																															gccaggaaccatgattgaatGgggcaattactggtgagtat																								novel		C3N-01489_TP	C3N-01489_NB	G	G																c.608delG	p.Gly203AlafsTer75	p.G203Afs*75	ENST00000322090	7/10	145	135	10	222	222	0	varindel-pindel	GBAS,frameshift_variant,p.Gly203AlafsTer75,ENST00000322090,NM_001483.2;GBAS,frameshift_variant,p.Gly164AlafsTer75,ENST00000446778,NM_001202469.1;GBAS,frameshift_variant,p.Gly63AlafsTer?,ENST00000437587,;GBAS,frameshift_variant,p.Gly63AlafsTer?,ENST00000446692,;GBAS,downstream_gene_variant,,ENST00000487370,;GBAS,downstream_gene_variant,,ENST00000472404,;GBAS,frameshift_variant,p.Gly111AlafsTer6,ENST00000415967,;GBAS,non_coding_transcript_exon_variant,,ENST00000497279,;GBAS,downstream_gene_variant,,ENST00000456204,;GBAS,downstream_gene_variant,,ENST00000464772,;	-	ENST00000322090	Transcript	frameshift_variant	634/1999	605/861	202/286	W/X	tGg/tg		1		1	GBAS	HGNC	HGNC:4179	protein_coding	YES	CCDS5521.1	ENSP00000313050	O75323		UPI00000015EB	NM_001483.2			7/10		Gene3D:3.30.70.900,Pfam_domain:PF07978,hmmpanther:PTHR21017,hmmpanther:PTHR21017:SF14,Superfamily_domains:SSF54909																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	81	55984866	55984866	G	-	1	0	1	0	1	0	0	0	0	6140	1357	47	0		0	GBAS	7	55984866	Frame_Shift_Del	DEL	G	C3N-01489_TP	2948638	55984866	103361107	313	26859											
TBL2	0	.	GRCh38	chr7	73571310	73571310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacttcccaaaccttcaCatctggggtgaagccacacg	11	7	9	14	1	2	2	1	1	1	1	3	2	3	2	3	2	2	1	3	2	2	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.757G>T	p.Val253Leu	p.V253L	ENST00000305632	6/7	200	180	20	298	298	0	strelka-varscan-mutect	TBL2,missense_variant,p.Val253Leu,ENST00000305632,NM_012453.2;TBL2,missense_variant,p.Val253Leu,ENST00000610724,;TBL2,missense_variant,p.Val217Leu,ENST00000432538,;TBL2,downstream_gene_variant,,ENST00000479892,;TBL2,non_coding_transcript_exon_variant,,ENST00000459913,;TBL2,downstream_gene_variant,,ENST00000452475,;TBL2,downstream_gene_variant,,ENST00000465279,;TBL2,downstream_gene_variant,,ENST00000468669,;TBL2,downstream_gene_variant,,ENST00000476136,;TBL2,3_prime_UTR_variant,,ENST00000424598,;TBL2,3_prime_UTR_variant,,ENST00000450285,;TBL2,3_prime_UTR_variant,,ENST00000417008,;TBL2,3_prime_UTR_variant,,ENST00000433464,;TBL2,3_prime_UTR_variant,,ENST00000426966,;TBL2,non_coding_transcript_exon_variant,,ENST00000488915,;TBL2,downstream_gene_variant,,ENST00000435792,;TBL2,downstream_gene_variant,,ENST00000437521,;TBL2,downstream_gene_variant,,ENST00000458466,;TBL2,downstream_gene_variant,,ENST00000469518,;TBL2,downstream_gene_variant,,ENST00000496056,;TBL2,downstream_gene_variant,,ENST00000452125,;TBL2,downstream_gene_variant,,ENST00000495885,;	A	ENST00000305632	Transcript	missense_variant	999/3161	757/1344	253/447	V/L	Gtg/Ttg		1		-1	TBL2	HGNC	HGNC:11586	protein_coding	YES	CCDS5551.1	ENSP00000307260	Q9Y4P3		UPI0000048EF4	NM_012453.2	deleterious(0)		6/7		PROSITE_profiles:PS50294,hmmpanther:PTHR22847:SF358,hmmpanther:PTHR22847,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	73571310	73571310	C	A	1	0	0	0	0	1	0	0	0	16047	478	17	2		2	TBL2	7	73571310	Missense_Mutation	SNP	C	C3N-01489_TP	17586444	73571310	85774663	314	26860											
CLIP2	0	.	GRCh38	chr7	74338642	74338642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagagacgcagttcgcaccgGgccagtgggctggcgtggtg	6	6	19	10	4	0	1	0	0	0	1	1	3	0	1	2	4	0	4	2	4	0	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.316G>T	p.Gly106Cys	p.G106C	ENST00000223398	3/17	402	366	36	467	466	1	strelka-varscan-mutect	CLIP2,missense_variant,p.Gly106Cys,ENST00000223398,NM_003388.4;CLIP2,missense_variant,p.Gly106Cys,ENST00000361545,NM_032421.2;CLIP2,missense_variant,p.Gly106Cys,ENST00000395060,;	T	ENST00000223398	Transcript	missense_variant	643/5563	316/3141	106/1046	G/C	Ggc/Tgc		1		1	CLIP2	HGNC	HGNC:2586	protein_coding	YES	CCDS5569.1	ENSP00000223398	Q9UDT6		UPI000007061E	NM_003388.4	deleterious(0)		3/17		Gene3D:2.30.30.190,Pfam_domain:PF01302,PROSITE_patterns:PS00845,PROSITE_profiles:PS50245,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF10,SMART_domains:SM01052,Superfamily_domains:SSF74924																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	74338642	74338642	G	T	1	0	0	0	0	1	0	0	0	3302	1232	43	2		2	CLIP2	7	74338642	Missense_Mutation	SNP	G	C3N-01489_TP	767332	74338642	85007331	315	26861											
SEMA3E	0	.	GRCh38	chr7	83407116	83407116	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacacagagtcgcccgaccCtggtgtaaattgcgtgagca	10	7	11	13	3	0	2	0	1	0	1	1	3	0	2	3	1	2	2	3	1	2	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.794G>C	p.Arg265Thr	p.R265T	ENST00000307792	7/17	330	303	27	411	411	0	strelka-mutect	SEMA3E,missense_variant,p.Arg265Thr,ENST00000307792,NM_012431.2;SEMA3E,missense_variant,p.Arg205Thr,ENST00000427262,NM_001178129.1;SEMA3E,downstream_gene_variant,,ENST00000442159,;	G	ENST00000307792	Transcript	missense_variant	1262/6476	794/2328	265/775	R/T	aGg/aCg		1		-1	SEMA3E	HGNC	HGNC:10727	protein_coding	YES	CCDS34674.1	ENSP00000303212	O15041		UPI0000135A68	NM_012431.2	deleterious(0)		7/17		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	83407116	83407116	C	G	1	0	0	0	0	1	0	0	0	14304	681	24	4		4	SEMA3E	7	83407116	Missense_Mutation	SNP	C	C3N-01489_TP	9068474	83407116	75938857	316	26862											
SLC25A13	0	.	GRCh38	chr7	96121852	96121852	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccataccaccagctcccttCcacagagcttttggtccttc	7	12	5	17	0	0	1	0	0	0	1	5	1	4	1	6	1	3	2	6	1	1	5	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1740G>A	p.Trp580Ter	p.W580*	ENST00000416240	16/18	419	363	56	677	676	1	strelka-varscan-mutect	SLC25A13,stop_gained,p.Trp580Ter,ENST00000416240,NM_001160210.1;SLC25A13,stop_gained,p.Trp579Ter,ENST00000265631,NM_014251.2;SLC25A13,non_coding_transcript_exon_variant,,ENST00000494085,;GS1-25M2.1,downstream_gene_variant,,ENST00000625023,;	T	ENST00000416240	Transcript	stop_gained	1931/3192	1740/2031	580/676	W/*	tgG/tgA		1		-1	SLC25A13	HGNC	HGNC:10983	protein_coding	YES	CCDS55130.1	ENSP00000400101	Q9UJS0		UPI0000001663	NM_001160210.1			16/18		PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF265,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	81	96121852	96121852	C	T	1	0	0	0	0	0	1	0	0	14740	856	30	3		3	SLC25A13	7	96121852	Nonsense_Mutation	SNP	C	C3N-01489_TP	12714736	96121852	63224121	317	26863											
LMTK2	0	.	GRCh38	chr7	98193721	98193721	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatggtcacagaggcacaGaagtgacccctgagacgttc	11	6	13	11	2	1	4	1	2	0	3	2	6	1	4	2	2	0	2	2	2	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.3256G>T	p.Glu1086Ter	p.E1086*	ENST00000297293	11/14	181	161	20	304	303	1	strelka-varscan-mutect	LMTK2,stop_gained,p.Glu1086Ter,ENST00000297293,NM_014916.3;	T	ENST00000297293	Transcript	stop_gained	3549/8946	3256/4512	1086/1503	E/*	Gaa/Taa		1		1	LMTK2	HGNC	HGNC:17880	protein_coding	YES	CCDS5654.1	ENSP00000297293	Q8IWU2		UPI000014F277	NM_014916.3			11/14																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	81	98193721	98193721	G	T	1	0	0	0	0	0	1	0	0	8786	943	33	2		2	LMTK2	7	98193721	Nonsense_Mutation	SNP	G	C3N-01489_TP	2071869	98193721	61152252	318	26864											
TECPR1	0	.	GRCh38	chr7	98243563	98243563	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcgttgaaggggtcgggCagctccttggggtcatcctt	5	11	16	9	2	1	1	1	1	0	0	5	1	3	1	2	6	1	3	2	6	1	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.561G>C	p.=	p.L187L	ENST00000447648	6/26	129	117	12	162	162	0	strelka-varscan-mutect	TECPR1,synonymous_variant,p.=,ENST00000447648,NM_015395.2;TECPR1,downstream_gene_variant,,ENST00000420697,;TECPR1,downstream_gene_variant,,ENST00000423128,;TECPR1,downstream_gene_variant,,ENST00000415086,;TECPR1,intron_variant,,ENST00000471397,;TECPR1,downstream_gene_variant,,ENST00000472845,;TECPR1,non_coding_transcript_exon_variant,,ENST00000463648,;	G	ENST00000447648	Transcript	synonymous_variant	861/6564	561/3498	187/1165	L	ctG/ctC		1		-1	TECPR1	HGNC	HGNC:22214	protein_coding	YES	CCDS47648.1	ENSP00000404923	Q7Z6L1		UPI0000161940	NM_015395.2			6/26		hmmpanther:PTHR23250,hmmpanther:PTHR23250:SF1																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	81	98243563	98243563	C	G	1	0	0	0	0	0	0	0	1	16154	697	25	4		4	TECPR1	7	98243563	Silent	SNP	C	C3N-01489_TP	49842	98243563	61102410	319	26865											
MUC17	0	.	GRCh38	chr7	101035947	101035947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcaatctcaacgcctagtGaaggaagcactgcattaaca	15	8	8	10	1	1	1	1	1	1	0	2	2	1	2	1	1	5	3	1	1	7	3			C3N-01489_TP	C3N-01489_NB	G	G																c.4531G>A	p.Glu1511Lys	p.E1511K	ENST00000306151	3/13	82	73	9	128	128	0	strelka-varscan-mutect	MUC17,missense_variant,p.Glu1511Lys,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Glu1511Lys,ENST00000379439,;	A	ENST00000306151	Transcript	missense_variant	4595/14247	4531/13482	1511/4493	E/K	Gaa/Aaa	COSM5601856	1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	tolerated(0.1)		3/13		hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	81	101035947	101035947	G	A	1	0	0	0	0	1	0	0	0	9973	1291	45	3		3	MUC17	7	101035947	Missense_Mutation	SNP	G	C3N-01489_TP	2792384	101035947	58310026	320	26866											
RELN	0	.	GRCh38	chr7	103917155	103917155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atagtcctgtcaccagcaagCcgtcaaaaaaggtgcttgtt	12	10	9	10	1	2	0	2	0	0	0	3	0	3	0	3	1	3	3	3	1	5	3			C3N-01489_TP	C3N-01489_NB	C	C																c.257G>T	p.Gly86Val	p.G86V	ENST00000428762	2/65	307	280	27	496	489	7	strelka-varscan	RELN,missense_variant,p.Gly86Val,ENST00000424685,;RELN,missense_variant,p.Gly86Val,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Gly86Val,ENST00000343529,NM_173054.2;	A	ENST00000428762	Transcript	missense_variant	417/11571	257/10383	86/3460	G/V	gGc/gTc	COSM1446998	1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3	deleterious(0)		2/65		PROSITE_profiles:PS51019,Pfam_domain:PF02014											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	81	103917155	103917155	C	A	1	0	0	0	0	1	0	0	0	13390	739	26	2		2	RELN	7	103917155	Missense_Mutation	SNP	C	C3N-01489_TP	2881208	103917155	55428818	321	26867											
RELN	0	.	GRCh38	chr7	103989147	103989147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccatggtattcttgtccCggaacgtagtaggtggggtt	7	13	13	8	2	1	0	0	0	1	0	2	1	2	1	2	5	2	4	2	5	5	7	rs770473518		C3N-01489_TP	C3N-01489_NB	C	C																c.210G>A	p.=	p.P70P	ENST00000428762	1/65	213	196	17	316	316	0	strelka-varscan-mutect	RELN,synonymous_variant,p.=,ENST00000424685,;RELN,synonymous_variant,p.=,ENST00000428762,NM_005045.3;RELN,synonymous_variant,p.=,ENST00000343529,NM_173054.2;	T	ENST00000428762	Transcript	synonymous_variant	370/11571	210/10383	70/3460	P	ccG/ccA	rs770473518	1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3			1/65		PROSITE_profiles:PS51019,Pfam_domain:PF02014																	LOW	1	SNV	5			1										PASS		rs770473518	.												T	2	4	81	103989147	103989147	C	T	1	0	0	0	0	0	0	0	1	13390	639	23	1		1	RELN	7	103989147	Silent	SNP	C	C3N-01489_TP	71992	103989147	55356826	322	26868											
LAMB1	0	.	GRCh38	chr7	107959823	107959823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaacgaaccctgagggtCgcattcacaagctgtgggta	11	9	11	10	2	1	1	1	1	0	0	2	2	1	1	1	2	3	3	1	2	4	3	rs755423167		C3N-01489_TP	C3N-01489_NB	C	C																c.2326G>T	p.Asp776Tyr	p.D776Y	ENST00000222399	19/34	100	85	15	148	148	0	strelka-varscan-mutect	LAMB1,missense_variant,p.Asp800Tyr,ENST00000393561,;LAMB1,missense_variant,p.Asp776Tyr,ENST00000222399,NM_002291.2;LAMB1,missense_variant,p.Asp776Tyr,ENST00000393560,;	A	ENST00000222399	Transcript	missense_variant	2557/5725	2326/5361	776/1786	D/Y	Gac/Tac	rs755423167	1		-1	LAMB1	HGNC	HGNC:6486	protein_coding	YES	CCDS5750.1	ENSP00000222399	P07942		UPI00001AE63F	NM_002291.2	deleterious(0)		19/34		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF233,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		rs755423167	.												A	3	1	81	107959823	107959823	C	A	1	0	0	0	0	1	0	0	0	8514	884	31	1		1	LAMB1	7	107959823	Missense_Mutation	SNP	C	C3N-01489_TP	3970676	107959823	51386150	323	26869											
AKR1B1	0	.	GRCh38	chr7	134442755	134442755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatggaaggggtaatcCttgtgggaggtacagctgtc	8	12	14	7	0	2	0	1	0	1	0	4	2	3	2	1	5	2	3	1	5	3	4	rs780078330		C3N-01489_TP	C3N-01489_NB	C	C																c.924G>T	p.Lys308Asn	p.K308N	ENST00000285930	10/10	249	220	29	354	353	1	strelka-varscan-mutect	AKR1B1,missense_variant,p.Lys308Asn,ENST00000285930,NM_001628.2;AKR1B1,3_prime_UTR_variant,,ENST00000434222,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000465351,;AKR1B1,downstream_gene_variant,,ENST00000467251,;	A	ENST00000285930	Transcript	missense_variant	1004/1409	924/951	308/316	K/N	aaG/aaT	rs780078330	1		-1	AKR1B1	HGNC	HGNC:381	protein_coding	YES	CCDS5831.1	ENSP00000285930	P15121	A0A024R7A8	UPI000000D78E	NM_001628.2	deleterious(0.02)		10/10		hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF233,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430																	MODERATE	1	SNV	1			1										PASS		rs780078330	.												A	3	1	81	134442755	134442755	C	A	1	0	0	0	0	1	0	0	0	550	680	24	2		2	AKR1B1	7	134442755	Missense_Mutation	SNP	C	C3N-01489_TP	26482932	134442755	24903218	324	26870											
SLC13A4	0	.	GRCh38	chr7	135721447	135721447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaggaaggccggcaccaggGctgcagctcccagaggcact	11	3	14	13	1	0	1	0	0	0	1	1	2	1	2	3	5	2	5	3	5	2	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.176C>A	p.Ala59Asp	p.A59D	ENST00000354042	2/16	259	224	35	276	276	0	strelka-varscan-mutect	SLC13A4,missense_variant,p.Ala59Asp,ENST00000354042,NM_001318192.1,NM_012450.2;SLC13A4,missense_variant,p.Ala59Asp,ENST00000378428,;SLC13A4,missense_variant,p.Ala59Asp,ENST00000422620,;SLC13A4,non_coding_transcript_exon_variant,,ENST00000471405,;SLC13A4,non_coding_transcript_exon_variant,,ENST00000478310,;	T	ENST00000354042	Transcript	missense_variant	866/2897	176/1881	59/626	A/D	gCc/gAc		1		-1	SLC13A4	HGNC	HGNC:15827	protein_coding	YES	CCDS5840.1	ENSP00000297282	Q9UKG4		UPI00000343D9	NM_001318192.1,NM_012450.2	deleterious(0)		2/16		Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF63,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1408601893	.												T	3	4	81	135721447	135721447	G	T	1	0	0	0	0	1	0	0	0	14659	1203	42	2		2	SLC13A4	7	135721447	Missense_Mutation	SNP	G	C3N-01489_TP	1278692	135721447	23624526	325	26871											
MGAM2	0	.	GRCh38	chr7	142220588	142220588	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcacaaccacactttttgCaacaagtactattggtgtta	13	14	5	9	0	1	0	1	0	0	0	1	0	1	0	1	1	4	3	1	1	7	7	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.6077C>A	p.Ala2026Glu	p.A2026E	ENST00000477922	48/48	248	214	34	411	411	0	strelka-varscan-mutect	MGAM2,missense_variant,p.Ala2026Glu,ENST00000477922,NM_001293626.1;MGAM2,non_coding_transcript_exon_variant,,ENST00000496337,;	A	ENST00000477922	Transcript	missense_variant	6131/7867	6077/7548	2026/2515	A/E	gCa/gAa		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	tolerated_low_confidence(0.73)		48/48		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs922535377	.												A	3	1	81	142220588	142220588	C	A	1	0	0	0	0	1	0	0	0	9500	710	25	2		2	MGAM2	7	142220588	Missense_Mutation	SNP	C	C3N-01489_TP	6499141	142220588	17125385	326	26872											
ZNF746	0	.	GRCh38	chr7	149477591	149477591	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatccgtggagatgtctcCtgctccggaatccagctggc	6	9	13	13	2	1	1	0	0	1	1	5	3	4	2	4	4	2	3	4	4	1	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.685G>T	p.Gly229Ter	p.G229*	ENST00000458143	5/7	50	43	7	80	80	0	strelka-varscan-mutect	ZNF746,stop_gained,p.Gly229Ter,ENST00000340622,NM_152557.4;ZNF746,stop_gained,p.Gly229Ter,ENST00000458143,NM_001163474.1;ZNF746,non_coding_transcript_exon_variant,,ENST00000471735,;	A	ENST00000458143	Transcript	stop_gained	956/3797	685/1938	229/645	G/*	Gga/Tga		1		-1	ZNF746	HGNC	HGNC:21948	protein_coding	YES	CCDS55180.1	ENSP00000395007	Q6NUN9		UPI00015DA840	NM_001163474.1			5/7		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF13																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	81	149477591	149477591	C	A	1	0	0	0	0	0	1	0	0	18712	690	24	2		2	ZNF746	7	149477591	Nonsense_Mutation	SNP	C	C3N-01489_TP	7257003	149477591	9868382	327	26873											
SSPO	0	.	GRCh38	chr7	149785597	149785597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actggccttcacctatcctgGggcctgcgagtatctgctgg	5	11	12	13	1	2	0	1	0	1	0	3	1	3	0	4	4	2	2	4	4	2	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.3104G>T	p.Gly1035Val	p.G1035V	ENST00000378016	21/107	411	362	49	584	582	2	strelka-varscan-mutect	SSPO,missense_variant,p.Gly1035Val,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,downstream_gene_variant,,ENST00000486824,;SSPO,upstream_gene_variant,,ENST00000475488,;SSPO,downstream_gene_variant,,ENST00000493502,;	T	ENST00000378016	Transcript	missense_variant	3104/15589	3104/15453	1035/5150	G/V	gGg/gTg		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2	deleterious(0)		21/107		Pfam_domain:PF00094,SMART_domains:SM00216,SMART_domains:SM00215,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF294																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	149785597	149785597	G	T	1	0	0	0	0	1	0	0	0	15566	1232	43	2		2	SSPO	7	149785597	Missense_Mutation	SNP	G	C3N-01489_TP	308006	149785597	9560376	328	26874											
SSPO	0	.	GRCh38	chr7	149796433	149796433	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttcggccgcatggtgcaGgcgaggtttgtcagggtgtg	5	11	17	8	3	1	0	1	0	0	0	2	1	1	0	1	5	1	3	1	5	0	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.6600G>C	p.Gln2200His	p.Q2200H	ENST00000378016	43/107	344	297	47	382	382	0	strelka-varscan-mutect	SSPO,missense_variant,p.Gln2200His,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;	C	ENST00000378016	Transcript	missense_variant	6600/15589	6600/15453	2200/5150	Q/H	caG/caC		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2	deleterious(0.02)		43/107		Pfam_domain:PF00754,Gene3D:2.60.120.260,SMART_domains:SM00231,Superfamily_domains:SSF49785,PROSITE_profiles:PS50022,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF294																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	81	149796433	149796433	G	C	1	0	0	0	0	1	0	0	0	15566	991	35	4		4	SSPO	7	149796433	Missense_Mutation	SNP	G	C3N-01489_TP	10836	149796433	9549540	329	26875											
CNPY1	0	.	GRCh38	chr7	155509077	155509077	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagatccgttaggaacgcCtccgactgagctagggggat	12	7	13	9	3	0	2	0	1	0	1	2	5	2	4	3	3	2	2	3	3	5	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.120G>T	p.Glu40Asp	p.E40D	ENST00000636372	3/6	57	49	8	121	121	0	strelka-varscan-mutect	CNPY1,missense_variant,p.Glu40Asp,ENST00000636372,;CNPY1,missense_variant,p.Glu40Asp,ENST00000636446,;CNPY1,5_prime_UTR_variant,,ENST00000321736,NM_001103176.1;CNPY1,5_prime_UTR_variant,,ENST00000406197,;AC008060.5,upstream_gene_variant,,ENST00000415333,;RP5-912I13.2,non_coding_transcript_exon_variant,,ENST00000636307,;RP5-912I13.2,non_coding_transcript_exon_variant,,ENST00000635770,;RP5-912I13.2,non_coding_transcript_exon_variant,,ENST00000637398,;RP5-912I13.2,non_coding_transcript_exon_variant,,ENST00000635903,;	A	ENST00000636372	Transcript	missense_variant	1032/2259	120/438	40/145	E/D	gaG/gaT		1		-1	CNPY1	HGNC	HGNC:27786	protein_coding			ENSP00000490060							3/6		hmmpanther:PTHR13341:SF4,hmmpanther:PTHR13341,Pfam_domain:PF11938																	MODERATE		SNV				1										PASS		.	.												A	3	1	81	155509077	155509077	C	A	1	0	0	0	0	1	0	0	0	3409	680	24	2		2	CNPY1	7	155509077	Missense_Mutation	SNP	C	C3N-01489_TP	5712644	155509077	3836896	330	26876											
CSMD1	0	.	GRCh38	chr8	3998008	3998008	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtccccgggctcagccagaAtggtccaggtgcagtccgcg	6	7	14	14	3	1	1	1	0	0	1	4	1	4	1	5	3	2	2	5	3	1	0	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.713T>C	p.Ile238Thr	p.I238T	ENST00000520002	5/71	208	195	13	287	287	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Ile100Thr,ENST00000537824,;CSMD1,missense_variant,p.Ile238Thr,ENST00000520002,;CSMD1,missense_variant,p.Ile238Thr,ENST00000602557,;CSMD1,missense_variant,p.Ile238Thr,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Ile238Thr,ENST00000400186,;CSMD1,missense_variant,p.Ile238Thr,ENST00000602723,;	G	ENST00000520002	Transcript	missense_variant	1269/11740	713/10698	238/3565	I/T	aTt/aCt		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0)		5/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	81	3998008	3998008	A	G	1	0	0	0	0	1	0	0	0	3745	101	4	5		5	CSMD1	8	3998008	Missense_Mutation	SNP	A	C3N-01489_TP		3998008	141140628	331	26877											
RP1L1	0	.	GRCh38	chr8	10608194	10608194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgactctggctgggcttcCtcttctgcctcctgggactc	2	14	10	15	0	4	1	0	1	4	0	7	2	6	2	3	3	1	2	3	3	0	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.5904G>T	p.Glu1968Asp	p.E1968D	ENST00000382483	4/4	302	269	33	467	466	1	strelka-varscan-mutect	RP1L1,missense_variant,p.Glu1968Asp,ENST00000382483,NM_178857.5;	A	ENST00000382483	Transcript	missense_variant	6128/7973	5904/7203	1968/2400	E/D	gaG/gaT		1		-1	RP1L1	HGNC	HGNC:15946	protein_coding	YES	CCDS43708.1	ENSP00000371923		A6NKC6	UPI00001AF9CC	NM_178857.5	tolerated_low_confidence(0.5)		4/4		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1409852774	.												A	3	1	81	10608194	10608194	C	A	1	0	0	0	0	1	0	0	0	13773	680	24	2		2	RP1L1	8	10608194	Missense_Mutation	SNP	C	C3N-01489_TP	6610186	10608194	134530442	332	26878											
GATA4	0	.	GRCh38	chr8	11708913	11708913	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggccaacccggccgccCgacaccccaatctcggtgag	7	3	12	19	5	1	1	0	1	1	0	2	2	1	1	7	3	1	0	7	3	2	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.601C>A	p.=	p.R201R	ENST00000532059	1/6	90	78	12	104	104	0	strelka-varscan-mutect	GATA4,synonymous_variant,p.=,ENST00000335135,NM_002052.3;GATA4,synonymous_variant,p.=,ENST00000622443,;GATA4,synonymous_variant,p.=,ENST00000532059,NM_001308093.1;GATA4,intron_variant,,ENST00000528712,NM_001308094.1;GATA4,intron_variant,,ENST00000526716,;GATA4,downstream_gene_variant,,ENST00000528027,;GATA4,downstream_gene_variant,,ENST00000532977,;GATA4,downstream_gene_variant,,ENST00000526974,;	A	ENST00000532059	Transcript	synonymous_variant	681/1459	601/1332	201/443	R	Cga/Aga		1		1	GATA4	HGNC	HGNC:4173	protein_coding	YES	CCDS78303.1	ENSP00000435712	P43694		UPI0000210221	NM_001308093.1			1/6		Pfam_domain:PF05349,PIRSF_domain:PIRSF003028,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF154																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	11708913	11708913	C	A	1	0	0	0	0	0	0	0	1	6126	644	23	1		1	GATA4	8	11708913	Silent	SNP	C	C3N-01489_TP	1100719	11708913	133429723	333	26879											
MSR1	0	.	GRCh38	chr8	16150312	16150312	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttaagacccggaggacCtacattattaacgaagaaaa	17	8	7	9	2	0	2	0	0	0	2	0	5	0	4	3	2	2	0	3	2	7	5	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.899-1G>C		p.X300_splice	ENST00000262101		86	78	8	167	167	0	strelka-varscan-mutect	MSR1,splice_acceptor_variant,,ENST00000350896,NM_138716.2;MSR1,splice_acceptor_variant,,ENST00000381998,NM_002445.3;MSR1,splice_acceptor_variant,,ENST00000262101,NM_138715.2;MSR1,splice_acceptor_variant,,ENST00000445506,;MSR1,splice_acceptor_variant,,ENST00000355282,;MSR1,splice_acceptor_variant,,ENST00000522672,;MSR1,splice_acceptor_variant,,ENST00000519060,;	G	ENST00000262101	Transcript	splice_acceptor_variant	-/2132	899/1356	300/451				1		-1	MSR1	HGNC	HGNC:7376	protein_coding	YES	CCDS5995.1	ENSP00000262101	P21757		UPI000012F686	NM_138715.2				6/9																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	81	16150312	16150312	C	G	1	0	0	0	0	0	0	1	0	9869	695	24	4		4	MSR1	8	16150312	Splice_Site	SNP	C	C3N-01489_TP	4441399	16150312	128988324	334	26880											
MSR1	0	.	GRCh38	chr8	16164220	16164220	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccataatttctgctgatacaTtgtaaacacgctcctctaat	12	14	4	11	1	2	1	0	1	2	0	3	1	3	1	2	0	3	3	2	0	5	6	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.662A>G	p.Asn221Ser	p.N221S	ENST00000262101	5/10	215	197	18	281	281	0	strelka-varscan-mutect	MSR1,missense_variant,p.Asn221Ser,ENST00000350896,NM_138716.2;MSR1,missense_variant,p.Asn221Ser,ENST00000381998,NM_002445.3;MSR1,missense_variant,p.Asn221Ser,ENST00000262101,NM_138715.2;MSR1,missense_variant,p.Asn239Ser,ENST00000445506,;MSR1,missense_variant,p.Asn221Ser,ENST00000355282,;MSR1,missense_variant,p.Asn11Ser,ENST00000522672,;MSR1,3_prime_UTR_variant,,ENST00000519060,;	C	ENST00000262101	Transcript	missense_variant	784/2132	662/1356	221/451	N/S	aAt/aGt		1		-1	MSR1	HGNC	HGNC:7376	protein_coding	YES	CCDS5995.1	ENSP00000262101	P21757		UPI000012F686	NM_138715.2	deleterious(0.01)		5/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24023:SF603,hmmpanther:PTHR24023,Prints_domain:PR01408																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	16164220	16164220	T	C	1	0	0	0	0	1	0	0	0	9869	1493	52	5		5	MSR1	8	16164220	Missense_Mutation	SNP	T	C3N-01489_TP	13908	16164220	128974416	335	26881											
HR	0	.	GRCh38	chr8	22127135	22127135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgttctgcagtgcctGgaaaagggtccggtggccgc	5	8	14	14	2	1	0	0	0	1	0	2	1	2	1	5	4	2	2	5	4	2	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1307C>A	p.Pro436Gln	p.P436Q	ENST00000381418	3/19	78	70	8	121	121	0	strelka-varscan-mutect	HR,missense_variant,p.Pro436Gln,ENST00000381418,NM_005144.4;HR,missense_variant,p.Pro436Gln,ENST00000312841,NM_018411.4;HR,downstream_gene_variant,,ENST00000518377,;HR,downstream_gene_variant,,ENST00000519619,;HR,downstream_gene_variant,,ENST00000522759,;HR,upstream_gene_variant,,ENST00000517699,;HR,upstream_gene_variant,,ENST00000518461,;	T	ENST00000381418	Transcript	missense_variant	2788/6336	1307/3570	436/1189	P/Q	cCa/cAa		1		-1	HR	HGNC	HGNC:5172	protein_coding	YES	CCDS6022.1	ENSP00000370826	O43593		UPI000013EB0B	NM_005144.4	deleterious(0.03)		3/19		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF4																	MODERATE	1	SNV	1			1										PASS		rs1278767455	.												T	3	4	81	22127135	22127135	G	T	1	0	0	0	0	1	0	0	0	7242	1348	47	2		2	HR	8	22127135	Missense_Mutation	SNP	G	C3N-01489_TP	5962915	22127135	123011501	336	26882											
ANK1	0	.	GRCh38	chr8	41668513	41668513	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccaggaaccttgtgcAgcatcttgcaggtatgagac	9	11	11	10	0	2	1	0	1	2	1	2	3	2	2	2	2	5	4	2	2	2	4	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.5271T>A	p.=	p.A1757A	ENST00000265709	40/43	106	91	15	188	187	1	strelka-varscan-mutect	ANK1,synonymous_variant,p.=,ENST00000289734,NM_000037.3;ANK1,synonymous_variant,p.=,ENST00000347528,NM_020476.2,NM_020475.2,NM_020477.2;ANK1,synonymous_variant,p.=,ENST00000265709,NM_001142446.1;ANK1,synonymous_variant,p.=,ENST00000520299,;ANK1,upstream_gene_variant,,ENST00000314214,NM_020478.4;ANK1,upstream_gene_variant,,ENST00000522543,NM_001142445.1;ANK1,upstream_gene_variant,,ENST00000522231,;ANK1,upstream_gene_variant,,ENST00000348036,NM_020480.4;ANK1,upstream_gene_variant,,ENST00000335651,;RP11-930P14.1,downstream_gene_variant,,ENST00000522388,;RP11-930P14.1,downstream_gene_variant,,ENST00000520418,;RP11-930P14.1,downstream_gene_variant,,ENST00000585088,;ANK1,3_prime_UTR_variant,,ENST00000518061,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,upstream_gene_variant,,ENST00000518715,;	T	ENST00000265709	Transcript	synonymous_variant	5553/6379	5271/5694	1757/1897	A	gcT/gcA		1		-1	ANK1	HGNC	HGNC:492	protein_coding	YES	CCDS47849.1	ENSP00000265709	P16157		UPI0000E4453A	NM_001142446.1			40/43		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF20																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	41668513	41668513	A	T	1	0	0	0	0	0	0	0	1	720	175	7	4		4	ANK1	8	41668513	Silent	SNP	A	C3N-01489_TP	19541378	41668513	103470123	337	26883											
CHRNB3	0	.	GRCh38	chr8	42731956	42731956	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaacagaagggacggcGtgtactcctatccctttatc	10	9	12	10	2	0	1	0	0	0	1	3	3	2	3	2	4	2	1	2	4	5	4	rs760859517		C3N-01489_TP	C3N-01489_NB	G	G																c.649G>C	p.Val217Leu	p.V217L	ENST00000289957	5/6	180	147	33	311	311	0	strelka-varscan-mutect	CHRNB3,missense_variant,p.Val217Leu,ENST00000289957,NM_000749.3;	C	ENST00000289957	Transcript	missense_variant	777/2294	649/1377	217/458	V/L	Gtg/Ctg	rs760859517	1		1	CHRNB3	HGNC	HGNC:1963	protein_coding	YES	CCDS6134.1	ENSP00000289957	Q05901		UPI0000125272	NM_000749.3	tolerated(0.14)		5/6		hmmpanther:PTHR18945:SF75,hmmpanther:PTHR18945,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932																	MODERATE	1	SNV	1			1										PASS		rs760859517	.												C	3	2	81	42731956	42731956	G	C	1	0	0	0	0	1	0	0	0	3152	1145	40	4		4	CHRNB3	8	42731956	Missense_Mutation	SNP	G	C3N-01489_TP	1063443	42731956	102406680	338	26884											
NPBWR1	0	.	GRCh38	chr8	52940396	52940396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggtgagcctggccgtgtgGgggatcgtcacactcgtcgt	4	9	17	11	5	1	1	1	1	0	0	4	2	1	2	2	4	1	0	2	4	0	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.489G>T	p.Trp163Cys	p.W163C	ENST00000331251	1/1	130	105	25	245	245	0	strelka-varscan-mutect	NPBWR1,missense_variant,p.Trp163Cys,ENST00000331251,NM_005285.3;	T	ENST00000331251	Transcript	missense_variant	1966/2687	489/987	163/328	W/C	tgG/tgT		1		1	NPBWR1	HGNC	HGNC:4522	protein_coding	YES	CCDS6151.1	ENSP00000330284	P48145	H9NIL7	UPI000013EEF3	NM_005285.3	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR01855,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF47,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs1395346192	.												T	3	4	81	52940396	52940396	G	T	1	0	0	0	0	1	0	0	0	10616	1241	43	2		2	NPBWR1	8	52940396	Missense_Mutation	SNP	G	C3N-01489_TP	10208440	52940396	92198240	339	26885											
PDE7A	0	.	GRCh38	chr8	65782841	65782841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcataggaaatagctccacgCctctagaaaaaaaaatacac	19	7	5	10	1	2	1	1	0	1	1	3	2	3	2	2	1	2	1	2	1	9	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.141G>T	p.Arg47Ser	p.R47S	ENST00000401827	2/13	100	79	21	170	169	1	strelka-varscan-mutect	PDE7A,missense_variant,p.Arg47Ser,ENST00000401827,NM_001242318.2;PDE7A,missense_variant,p.Arg47Ser,ENST00000396642,;PDE7A,missense_variant,p.Arg21Ser,ENST00000379419,NM_002603.3;PDE7A,missense_variant,p.Arg21Ser,ENST00000523253,;PDE7A,splice_region_variant,,ENST00000519231,;PDE7A,splice_region_variant,,ENST00000519626,;	A	ENST00000401827	Transcript	missense_variant,splice_region_variant	585/3673	141/1449	47/482	R/S	agG/agT		1		-1	PDE7A	HGNC	HGNC:8791	protein_coding	YES	CCDS56538.1	ENSP00000385632	Q13946		UPI0000127BFD	NM_001242318.2	deleterious(0.01)		2/13		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF96																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	65782841	65782841	C	A	1	0	0	0	0	1	0	0	0	11739	753	26	2		2	PDE7A	8	65782841	Missense_Mutation	SNP	C	C3N-01489_TP	12842445	65782841	79355795	340	26886											
DCAF4L2	0	.	GRCh38	chr8	87873490	87873490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctacctatgaacagcgacGctgggagcagcacggcacag	12	4	13	12	3	0	1	0	1	0	0	0	3	0	2	1	2	6	5	1	2	3	2	rs367683322		C3N-01489_TP	C3N-01489_NB	G	G																c.482C>A	p.Ala161Glu	p.A161E	ENST00000319675	1/1	241	195	46	406	405	1	strelka-varscan-mutect	DCAF4L2,missense_variant,p.Ala161Glu,ENST00000319675,NM_152418.3;CTB-118P15.3,downstream_gene_variant,,ENST00000613582,;	T	ENST00000319675	Transcript	missense_variant	579/3326	482/1188	161/395	A/E	gCg/gAg	rs367683322,COSM160338	1		-1	DCAF4L2	HGNC	HGNC:26657	protein_coding	YES	CCDS6245.1	ENSP00000316496	Q8NA75		UPI0000072860	NM_152418.3	deleterious(0)		1/1		hmmpanther:PTHR22847:SF457,hmmpanther:PTHR22847,Superfamily_domains:SSF50978											0,1						MODERATE	1	SNV			0,1	1										PASS		rs367683322	.												T	3	4	81	87873490	87873490	G	T	1	0	0	0	0	1	0	0	0	4073	1087	38	1		1	DCAF4L2	8	87873490	Missense_Mutation	SNP	G	C3N-01489_TP	22090649	87873490	57265146	341	26887											
ESRP1	0	.	GRCh38	chr8	94662322	94662322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgatatggagcctctcaaGttgaagatatggggaatata	13	11	11	6	1	1	2	1	1	1	1	3	5	1	4	1	3	1	1	1	3	7	5	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.541G>T	p.Val181Phe	p.V181F	ENST00000433389	5/16	169	143	26	221	221	0	strelka-varscan-mutect	ESRP1,missense_variant,p.Val181Phe,ENST00000433389,NM_017697.3;ESRP1,missense_variant,p.Val181Phe,ENST00000358397,NM_001034915.2;ESRP1,missense_variant,p.Val181Phe,ENST00000423620,NM_001122826.1;ESRP1,missense_variant,p.Val181Phe,ENST00000454170,NM_001122825.1,NM_001122827.1;ESRP1,missense_variant,p.Val47Phe,ENST00000519505,;ESRP1,missense_variant,p.Val40Phe,ENST00000517610,;ESRP1,missense_variant,p.Val21Phe,ENST00000520385,;ESRP1,intron_variant,,ENST00000522756,;ESRP1,upstream_gene_variant,,ENST00000517556,;	T	ENST00000433389	Transcript	missense_variant	731/3770	541/2046	181/681	V/F	Gtt/Ttt		1		1	ESRP1	HGNC	HGNC:25966	protein_coding	YES	CCDS47897.1	ENSP00000405738	Q6NXG1		UPI0000210327	NM_017697.3	deleterious(0)		5/16		hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,Gene3D:3.30.420.10,Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1										PASS		rs772343882	.												T	3	4	81	94662322	94662322	G	T	1	0	0	0	0	1	0	0	0	5120	1029	36	2		2	ESRP1	8	94662322	Missense_Mutation	SNP	G	C3N-01489_TP	6788832	94662322	50476314	342	26888											
NDUFAF6	0	.	GRCh38	chr8	95032036	95032036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatgctccctgctgctccCtgcagaatcccgaagctctg	6	12	8	15	1	1	1	0	0	1	1	4	2	4	1	3	0	5	5	3	0	3	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.239C>T	p.Pro80Leu	p.P80L	ENST00000396124	2/9	434	381	53	559	559	0	strelka-varscan-mutect	NDUFAF6,missense_variant,p.Pro80Leu,ENST00000396124,NM_152416.3;NDUFAF6,5_prime_UTR_variant,,ENST00000396113,;NDUFAF6,5_prime_UTR_variant,,ENST00000396111,;NDUFAF6,5_prime_UTR_variant,,ENST00000523378,;NDUFAF6,5_prime_UTR_variant,,ENST00000519136,;NDUFAF6,upstream_gene_variant,,ENST00000519804,;NDUFAF6,missense_variant,p.Pro61Leu,ENST00000520757,;NDUFAF6,missense_variant,p.Pro80Leu,ENST00000518258,;NDUFAF6,missense_variant,p.Pro76Leu,ENST00000517976,;NDUFAF6,missense_variant,p.Pro61Leu,ENST00000454358,;NDUFAF6,missense_variant,p.Pro72Leu,ENST00000520632,;NDUFAF6,missense_variant,p.Pro80Leu,ENST00000523337,;NDUFAF6,missense_variant,p.Pro61Leu,ENST00000522683,;NDUFAF6,intron_variant,,ENST00000518608,;	T	ENST00000396124	Transcript	missense_variant	262/1798	239/1002	80/333	P/L	cCt/cTt		1		1	NDUFAF6	HGNC	HGNC:28625	protein_coding	YES	CCDS6266.2	ENSP00000379430	Q330K2		UPI0000F0A5CF	NM_152416.3	deleterious(0)		2/9		hmmpanther:PTHR21181,hmmpanther:PTHR21181:SF13,Gene3D:1.10.600.10,Pfam_domain:PF00494,Superfamily_domains:SSF48576																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	81	95032036	95032036	C	T	1	0	0	0	0	1	0	0	0	10300	681	24	3		3	NDUFAF6	8	95032036	Missense_Mutation	SNP	C	C3N-01489_TP	369714	95032036	50106600	343	26889											
UBR5	0	.	GRCh38	chr8	102285722	102285722	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctgcagcacttgtacTgatggtaccactccggcgta	8	10	11	12	2	0	1	0	1	0	0	1	1	1	1	2	2	6	7	2	2	3	4	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.5275A>T	p.Ser1759Cys	p.S1759C	ENST00000520539	39/59	177	157	20	234	234	0	varscan-mutect	UBR5,missense_variant,p.Ser1759Cys,ENST00000520539,NM_015902.5;UBR5,missense_variant,p.Ser1759Cys,ENST00000220959,NM_001282873.1;UBR5,missense_variant,p.Ser1753Cys,ENST00000521922,;UBR5,downstream_gene_variant,,ENST00000519528,;	A	ENST00000520539	Transcript	missense_variant	5882/10297	5275/8400	1759/2799	S/C	Agt/Tgt		1		-1	UBR5	HGNC	HGNC:16806	protein_coding	YES	CCDS34933.1	ENSP00000429084	O95071		UPI0000129BCB	NM_015902.5	deleterious(0.02)		39/59		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF337,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	102285722	102285722	T	A	1	0	0	0	0	1	0	0	0	17429	1580	55	4		4	UBR5	8	102285722	Missense_Mutation	SNP	T	C3N-01489_TP	7253686	102285722	42852914	344	26890											
AZIN1	0	.	GRCh38	chr8	102839771	102839771	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacattctgccattgactgTgtttcttcacaatctttcca	8	17	4	12	0	4	1	1	1	3	0	5	1	5	1	2	0	2	1	2	0	2	6	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.155A>T	p.His52Leu	p.H52L	ENST00000337198	4/12	127	115	12	143	143	0	strelka-varscan-mutect	AZIN1,missense_variant,p.His52Leu,ENST00000337198,NM_001301668.1,NM_148174.3;AZIN1,missense_variant,p.His52Leu,ENST00000347770,NM_015878.5;AZIN1,missense_variant,p.His52Leu,ENST00000520402,;AZIN1,intron_variant,,ENST00000521536,;AZIN1,downstream_gene_variant,,ENST00000518353,;AZIN1,non_coding_transcript_exon_variant,,ENST00000522311,;AZIN1,upstream_gene_variant,,ENST00000523071,;AZIN1,downstream_gene_variant,,ENST00000518940,;	A	ENST00000337198	Transcript	missense_variant	1319/4721	155/1347	52/448	H/L	cAc/cTc		1		-1	AZIN1	HGNC	HGNC:16432	protein_coding	YES	CCDS6295.1	ENSP00000337180	O14977	A0A024R9C7	UPI00000722AD	NM_001301668.1,NM_148174.3	deleterious(0)		4/12		Gene3D:3.20.20.10,Pfam_domain:PF02784,Prints_domain:PR01182,hmmpanther:PTHR11482,hmmpanther:PTHR11482:SF7,Superfamily_domains:SSF51419																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	102839771	102839771	T	A	1	0	0	0	0	1	0	0	0	1398	1696	59	4		4	AZIN1	8	102839771	Missense_Mutation	SNP	T	C3N-01489_TP	554049	102839771	42298865	345	26891											
PKHD1L1	0	.	GRCh38	chr8	109452766	109452766	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcctccaatttctcaTgggggggaaaatctccccca	8	10	9	14	0	2	0	1	0	2	0	6	1	4	1	5	4	0	0	5	4	3	1	rs376573811		C3N-01489_TP	C3N-01489_NB	T	T																c.6556T>A	p.Trp2186Arg	p.W2186R	ENST00000378402	43/78	133	109	24	169	169	0	strelka-varscan-mutect	PKHD1L1,missense_variant,p.Trp2186Arg,ENST00000378402,NM_177531.4;	A	ENST00000378402	Transcript	missense_variant	6660/13076	6556/12732	2186/4243	W/R	Tgg/Agg	rs376573811	1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	deleterious(0)		43/78		Pfam_domain:PF10162,PROSITE_profiles:PS51484,SMART_domains:SM01225																	MODERATE	1	SNV	1			1										PASS		rs376573811	.												A	3	1	81	109452766	109452766	T	A	1	0	0	0	0	1	0	0	0	12068	1464	51	4		4	PKHD1L1	8	109452766	Missense_Mutation	SNP	T	C3N-01489_TP	6612995	109452766	35685870	346	26892											
PKHD1L1	0	.	GRCh38	chr8	109464843	109464843	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaggtgcccttcagttcCataactttgtgatggtgaat	9	14	11	7	0	1	2	1	2	0	0	2	3	2	3	2	3	2	1	2	3	2	4	rs761865905		C3N-01489_TP	C3N-01489_NB	C	C																c.8011C>A	p.His2671Asn	p.H2671N	ENST00000378402	49/78	261	228	33	372	370	2	strelka-varscan-mutect	PKHD1L1,missense_variant,p.His2671Asn,ENST00000378402,NM_177531.4;	A	ENST00000378402	Transcript	missense_variant	8115/13076	8011/12732	2671/4243	H/N	Cat/Aat	rs761865905	1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	tolerated(0.15)		49/78		SMART_domains:SM00710																	MODERATE	1	SNV	1			1										PASS		rs761865905	.												A	3	1	81	109464843	109464843	C	A	1	0	0	0	0	1	0	0	0	12068	594	21	2		2	PKHD1L1	8	109464843	Missense_Mutation	SNP	C	C3N-01489_TP	12077	109464843	35673793	347	26893											
CSMD3	0	.	GRCh38	chr8	113314694	113314694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttctgctattattaccCatgtgcagtttgcaccattt	7	18	6	10	0	2	0	0	0	2	0	2	0	2	0	2	0	4	5	2	0	3	7			C3N-01489_TP	C3N-01489_NB	C	C																c.278G>T	p.Trp93Leu	p.W93L	ENST00000297405	2/71	276	250	26	421	420	1	strelka-varscan-mutect	CSMD3,missense_variant,p.Trp93Leu,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Trp53Leu,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Trp93Leu,ENST00000455883,NM_052900.2;CSMD3,non_coding_transcript_exon_variant,,ENST00000493303,;CSMD3,non_coding_transcript_exon_variant,,ENST00000497026,;	A	ENST00000297405	Transcript	missense_variant	523/13212	278/11124	93/3707	W/L	tGg/tTg	COSM1151010,COSM748570	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		2/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	81	113314694	113314694	C	A	1	0	0	0	0	1	0	0	0	3747	595	21	2		2	CSMD3	8	113314694	Missense_Mutation	SNP	C	C3N-01489_TP	3849851	113314694	31823942	348	26894											
MTBP	0	.	GRCh38	chr8	120488181	120488181	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgttgaagtgaaaggAgagtgttctagctattatct	12	13	11	5	0	2	4	0	2	2	2	2	5	2	4	1	1	1	3	1	1	5	5	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.1188A>G	p.=	p.G396G	ENST00000305949	12/22	134	121	13	194	194	0	strelka-varscan-mutect	MTBP,synonymous_variant,p.=,ENST00000305949,NM_022045.4;MTBP,non_coding_transcript_exon_variant,,ENST00000519188,;	G	ENST00000305949	Transcript	synonymous_variant	1233/3059	1188/2715	396/904	G	ggA/ggG		1		1	MTBP	HGNC	HGNC:7417	protein_coding	YES	CCDS6333.1	ENSP00000303398	Q96DY7		UPI00000703F0	NM_022045.4			12/22		Pfam_domain:PF14919,hmmpanther:PTHR14382,hmmpanther:PTHR14382:SF1																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	81	120488181	120488181	A	G	1	0	0	0	0	0	0	0	1	9897	291	11	5		5	MTBP	8	120488181	Silent	SNP	A	C3N-01489_TP	7173487	120488181	24650455	349	26895											
POU5F1B	0	.	GRCh38	chr8	127416098	127416098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggggatggcgtactgtgggCctcaggttggagtggggcta	5	9	21	6	1	1	0	1	0	0	0	1	2	1	2	1	8	1	3	1	8	2	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.232C>T	p.Pro78Ser	p.P78S	ENST00000465342	2/2	268	243	25	324	324	0	strelka-varscan-mutect	POU5F1B,missense_variant,p.Pro78Ser,ENST00000465342,NM_001159542.1;CASC8,intron_variant,,ENST00000502082,;CASC8,intron_variant,,ENST00000501396,;CASC8,intron_variant,,ENST00000523825,;	T	ENST00000465342	Transcript	missense_variant	1389/5360	232/1080	78/359	P/S	Cct/Tct		1		1	POU5F1B	HGNC	HGNC:9223	protein_coding	YES	CCDS55274.1	ENSP00000419298	Q06416		UPI000013F18B	NM_001159542.1	tolerated(0.11)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF86																	MODERATE		SNV	3			1										PASS		.	.												T	3	4	81	127416098	127416098	C	T	1	0	0	0	0	1	0	0	0	12398	739	26	3		3	POU5F1B	8	127416098	Missense_Mutation	SNP	C	C3N-01489_TP	6927917	127416098	17722538	350	26896											
POU5F1B	0	.	GRCh38	chr8	127416687	127416687	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctcgagaaggatgtggtccGagtgtggttctgtaaccggc	7	10	16	8	3	1	1	0	0	1	1	3	4	2	2	2	4	1	3	2	4	2	2	rs759719679		C3N-01489_TP	C3N-01489_NB	G	G																c.821G>C	p.Arg274Pro	p.R274P	ENST00000465342	2/2	534	478	56	649	649	0	strelka-varscan-mutect	POU5F1B,missense_variant,p.Arg274Pro,ENST00000465342,NM_001159542.1;CASC8,intron_variant,,ENST00000502082,;CASC8,intron_variant,,ENST00000501396,;CASC8,intron_variant,,ENST00000523825,;	C	ENST00000465342	Transcript	missense_variant	1978/5360	821/1080	274/359	R/P	cGa/cCa	rs759719679	1		1	POU5F1B	HGNC	HGNC:9223	protein_coding	YES	CCDS55274.1	ENSP00000419298	Q06416		UPI000013F18B	NM_001159542.1	deleterious(0.04)		2/2		PROSITE_profiles:PS50071,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF86,PROSITE_patterns:PS00027,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00028																	MODERATE		SNV	3			1										PASS		rs759719679	.												C	3	2	81	127416687	127416687	G	C	1	0	0	0	0	1	0	0	0	12398	1058	37	4		4	POU5F1B	8	127416687	Missense_Mutation	SNP	G	C3N-01489_TP	589	127416687	17721949	351	26897											
GSDMC	0	.	GRCh38	chr8	129765633	129765633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaactttataccttgcCataggtaatccaaagagcaa	16	9	7	9	0	0	1	0	0	0	1	1	2	1	2	3	2	4	2	3	2	7	6	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.565G>T	p.Gly189Cys	p.G189C	ENST00000276708	4/14	268	222	46	357	357	0	strelka-varscan-mutect	GSDMC,missense_variant,p.Gly189Cys,ENST00000276708,NM_031415.2;GSDMC,missense_variant,p.Gly189Cys,ENST00000619643,;	A	ENST00000276708	Transcript	missense_variant	1447/2714	565/1527	189/508	G/C	Ggc/Tgc		1		-1	GSDMC	HGNC	HGNC:7151	protein_coding	YES	CCDS6360.1	ENSP00000276708	Q9BYG8		UPI0000071445	NM_031415.2	tolerated(0.05)		4/14		Pfam_domain:PF04598,hmmpanther:PTHR16399,hmmpanther:PTHR16399:SF21																	MODERATE	1	SNV	1			1										PASS		rs1300580183	.												A	3	1	81	129765633	129765633	C	A	1	0	0	0	0	1	0	0	0	6700	608	21	2		2	GSDMC	8	129765633	Missense_Mutation	SNP	C	C3N-01489_TP	2348946	129765633	15373003	352	26898											
TG	0	.	GRCh38	chr8	133022041	133022041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaacaccatggacagggaGgagagtgaaggatggccggc	13	3	16	9	1	0	2	0	1	0	1	0	6	0	5	2	6	1	0	2	6	2	0	rs777482713		C3N-01489_TP	C3N-01489_NB	G	G																c.6927G>T	p.Glu2309Asp	p.E2309D	ENST00000220616	40/48	412	342	70	517	517	0	strelka-varscan-mutect	TG,missense_variant,p.Glu2309Asp,ENST00000220616,NM_003235.4;TG,missense_variant,p.Glu765Asp,ENST00000519178,;TG,missense_variant,p.Glu442Asp,ENST00000519543,;TG,missense_variant,p.Glu105Asp,ENST00000518108,;TG,downstream_gene_variant,,ENST00000522523,;TG,3_prime_UTR_variant,,ENST00000523756,;	T	ENST00000220616	Transcript	missense_variant	6967/8450	6927/8307	2309/2768	E/D	gaG/gaT	rs777482713	1		1	TG	HGNC	HGNC:11764	protein_coding	YES	CCDS34944.1	ENSP00000220616	P01266		UPI000013C79F	NM_003235.4	tolerated(0.6)		40/48		Gene3D:3.40.50.1820,Pfam_domain:PF00135,PIRSF_domain:PIRSF001831,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		rs777482713	.												T	3	4	81	133022041	133022041	G	T	1	0	0	0	0	1	0	0	0	16246	991	35	2		2	TG	8	133022041	Missense_Mutation	SNP	G	C3N-01489_TP	3256408	133022041	12116595	353	26899											
WISP1	0	.	GRCh38	chr8	133212900	133212900	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacgaccatggactttaccCcagctccactggaggacacc	10	7	8	16	1	0	0	0	0	0	0	1	4	1	3	5	3	3	1	5	3	2	3	rs759578017		C3N-01489_TP	C3N-01489_NB	C	C																c.106C>A	p.Pro36Thr	p.P36T	ENST00000250160	2/5	62	43	19	80	80	0	strelka-varscan-mutect	WISP1,missense_variant,p.Pro36Thr,ENST00000250160,NM_003882.3;WISP1,missense_variant,p.Pro36Thr,ENST00000220856,NM_080838.2;WISP1,missense_variant,p.Pro36Thr,ENST00000517423,NM_001204869.1;WISP1,intron_variant,,ENST00000519433,NM_001204870.1;WISP1,intron_variant,,ENST00000377862,;	A	ENST00000250160	Transcript	missense_variant	212/3844	106/1104	36/367	P/T	Cca/Aca	rs759578017	1		1	WISP1	HGNC	HGNC:12769	protein_coding	YES	CCDS6371.1	ENSP00000250160	O95388		UPI00000359FE	NM_003882.3	tolerated(0.08)		2/5		hmmpanther:PTHR11348:SF4,hmmpanther:PTHR11348,PIRSF_domain:PIRSF036495																	MODERATE	1	SNV	1			1										PASS		rs759578017	.												A	3	1	81	133212900	133212900	C	A	1	0	0	0	0	1	0	0	0	17928	623	22	2		2	WISP1	8	133212900	Missense_Mutation	SNP	C	C3N-01489_TP	190859	133212900	11925736	354	26900											
FAM135B	0	.	GRCh38	chr8	138151291	138151291	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggtgatgggaaacagggTctgtttggaagagaatccag	12	9	16	4	0	1	2	0	1	1	1	2	5	2	4	1	4	1	1	1	4	3	1	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.3184A>T	p.Thr1062Ser	p.T1062S	ENST00000395297	13/20	118	100	18	152	152	0	strelka-varscan-mutect	FAM135B,missense_variant,p.Thr1062Ser,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Thr1062Ser,ENST00000276737,;FAM135B,missense_variant,p.Thr372Ser,ENST00000467365,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000395295,;	A	ENST00000395297	Transcript	missense_variant	3355/6962	3184/4221	1062/1406	T/S	Acc/Tcc		1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	tolerated(0.14)		13/20																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	81	138151291	138151291	T	A	1	0	0	0	0	1	0	0	0	5299	1667	58	4		4	FAM135B	8	138151291	Missense_Mutation	SNP	T	C3N-01489_TP	4938391	138151291	6987345	355	26901											
COL22A1	0	.	GRCh38	chr8	138636789	138636789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcaccacgttctccttGacttcccttgaaaggaaaaa	12	11	6	12	1	2	2	0	2	2	0	4	3	3	3	3	1	1	2	3	1	3	4			C3N-01489_TP	C3N-01489_NB	G	G																c.3508C>A	p.Gln1170Lys	p.Q1170K	ENST00000303045	48/65	243	211	32	335	334	1	strelka-varscan-mutect	COL22A1,missense_variant,p.Gln1170Lys,ENST00000303045,NM_152888.2;COL22A1,missense_variant,p.Gln863Lys,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;	T	ENST00000303045	Transcript	missense_variant	3955/6346	3508/4881	1170/1626	Q/K	Caa/Aaa	COSM340292	1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2	tolerated(1)		48/65		hmmpanther:PTHR24023,Pfam_domain:PF01391,Pfam_domain:PF01391											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	81	138636789	138636789	G	T	1	0	0	0	0	1	0	0	0	3469	1299	45	2		2	COL22A1	8	138636789	Missense_Mutation	SNP	G	C3N-01489_TP	485498	138636789	6501847	356	26902											
COL22A1	0	.	GRCh38	chr8	138685305	138685305	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctgccttcttcccccGctgcaccctggaaagaaaag	8	8	10	15	1	1	1	0	0	1	1	2	2	2	2	4	2	2	3	4	2	3	2			C3N-01489_TP	C3N-01489_NB	G	G																c.2870C>G	p.Ala957Gly	p.A957G	ENST00000303045	38/65	219	201	18	338	338	0	strelka-mutect	COL22A1,missense_variant,p.Ala957Gly,ENST00000303045,NM_152888.2;COL22A1,missense_variant,p.Ala670Gly,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;	C	ENST00000303045	Transcript	missense_variant	3317/6346	2870/4881	957/1626	A/G	gCg/gGg	COSM5225899	1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2	tolerated(0.17)		38/65		Low_complexity_(Seg):seg,hmmpanther:PTHR24023											1						MODERATE	1	SNV	1		1	1										PASS		rs1269287631	.												C	3	2	81	138685305	138685305	G	C	1	0	0	0	0	1	0	0	0	3469	1087	38	4		4	COL22A1	8	138685305	Missense_Mutation	SNP	G	C3N-01489_TP	48516	138685305	6453331	357	26903											
TRAPPC9	0	.	GRCh38	chr8	140023947	140023947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agacatttacctggttgctgGgagggtgctgactcgggtga	7	11	16	7	1	0	3	0	2	0	1	1	4	0	4	1	4	3	3	1	4	1	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2983C>A	p.Pro995Thr	p.P995T	ENST00000389328	18/23	448	404	44	505	504	1	strelka-varscan-mutect	TRAPPC9,missense_variant,p.Pro995Thr,ENST00000389328,NM_031466.6;TRAPPC9,missense_variant,p.Pro897Thr,ENST00000438773,NM_001160372.2;TRAPPC9,missense_variant,p.Pro741Thr,ENST00000520857,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000521667,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000523777,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000520532,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000517667,;	T	ENST00000389328	Transcript	missense_variant	2998/4474	2983/3741	995/1246	P/T	Cca/Aca		1		-1	TRAPPC9	HGNC	HGNC:30832	protein_coding	YES	CCDS34946.1	ENSP00000373979	Q96Q05		UPI0000DBEF2B	NM_031466.6	deleterious(0)		18/23		Pfam_domain:PF08626,hmmpanther:PTHR21512,hmmpanther:PTHR21512:SF5																	MODERATE	1	SNV	2			1										PASS		rs1056486718	.												T	3	4	81	140023947	140023947	G	T	1	0	0	0	0	1	0	0	0	16954	1232	43	2		2	TRAPPC9	8	140023947	Missense_Mutation	SNP	G	C3N-01489_TP	1338642	140023947	5114689	358	26904											
TOP1MT	0	.	GRCh38	chr8	143321307	143321307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgggtgcagctggacgTgctccacgcggagggaacag	7	5	16	13	4	0	0	0	0	0	0	2	3	2	3	3	4	4	3	3	4	1	0	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.1040A>G	p.His347Arg	p.H347R	ENST00000329245	8/14	105	93	12	163	163	0	strelka-varscan-mutect	TOP1MT,missense_variant,p.His249Arg,ENST00000523676,;TOP1MT,missense_variant,p.His249Arg,ENST00000521193,NM_001258446.1;TOP1MT,missense_variant,p.His347Arg,ENST00000329245,NM_052963.2;TOP1MT,missense_variant,p.His249Arg,ENST00000519148,NM_001258447.1;TOP1MT,missense_variant,p.His249Arg,ENST00000519139,;TOP1MT,downstream_gene_variant,,ENST00000519591,;TOP1MT,downstream_gene_variant,,ENST00000522041,;TOP1MT,downstream_gene_variant,,ENST00000518760,;TOP1MT,downstream_gene_variant,,ENST00000518007,;TOP1MT,3_prime_UTR_variant,,ENST00000518951,;TOP1MT,downstream_gene_variant,,ENST00000522121,;TOP1MT,downstream_gene_variant,,ENST00000523417,;	C	ENST00000329245	Transcript	missense_variant	1075/1958	1040/1806	347/601	H/R	cAc/cGc		1		-1	TOP1MT	HGNC	HGNC:29787	protein_coding	YES	CCDS6400.1	ENSP00000328835	Q969P6	E5KMK7	UPI000013716D	NM_052963.2	deleterious(0)		8/14		Gene3D:3.90.15.10,Pfam_domain:PF01028,Prints_domain:PR00416,hmmpanther:PTHR10290,hmmpanther:PTHR10290:SF1,SMART_domains:SM00435,Superfamily_domains:SSF56349																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	143321307	143321307	T	C	1	0	0	0	0	1	0	0	0	16840	1696	59	5		5	TOP1MT	8	143321307	Missense_Mutation	SNP	T	C3N-01489_TP	3297360	143321307	1817329	359	26905											
ZNF623	0	.	GRCh38	chr8	143650879	143650879	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggagttcaaagctcattcAgcatcagaggatccatactg	12	10	9	10	1	4	1	4	0	0	1	6	3	5	3	1	2	3	3	1	2	2	3	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.1007A>T	p.Gln336Leu	p.Q336L	ENST00000501748	1/1	291	257	34	351	350	1	strelka-varscan-mutect	ZNF623,missense_variant,p.Gln336Leu,ENST00000501748,NM_014789.3;ZNF623,missense_variant,p.Gln296Leu,ENST00000458270,NM_001082480.2;ZNF623,missense_variant,p.Gln296Leu,ENST00000526926,NM_001261843.1;	T	ENST00000501748	Transcript	missense_variant	1220/6759	1007/1611	336/536	Q/L	cAg/cTg		1		1	ZNF623	HGNC	HGNC:29084	protein_coding	YES	CCDS34957.1	ENSP00000445979	O75123		UPI0000139B4D	NM_014789.3	tolerated(0.28)		1/1		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF244,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	81	143650879	143650879	A	T	1	0	0	0	0	1	0	0	0	18622	188	7	4		4	ZNF623	8	143650879	Missense_Mutation	SNP	A	C3N-01489_TP	329572	143650879	1487757	360	26906											
EPPK1	0	.	GRCh38	chr8	143870896	143870896	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccgtctcggggtcacgCacacagcgctccagaagctg	8	5	13	15	4	2	1	1	0	1	1	4	1	3	1	2	3	2	3	2	3	1	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2358G>T	p.=	p.V786V	ENST00000615648	2/2	199	161	38	210	209	1	strelka-varscan-mutect	EPPK1,synonymous_variant,p.=,ENST00000615648,NM_031308.3;EPPK1,synonymous_variant,p.=,ENST00000568225,;	A	ENST00000615648	Transcript	synonymous_variant	2430/16002	2358/15267	786/5088	V	gtG/gtT		1		-1	EPPK1	HGNC	HGNC:15577	protein_coding	YES	CCDS75800.1	ENSP00000484472		A0A087X1U6	UPI0002065B93	NM_031308.3			2/2		Gene3D:3.90.1290.10,SMART_domains:SM00250,Superfamily_domains:SSF75399																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	81	143870896	143870896	C	A	1	0	0	0	0	0	0	0	1	5038	697	25	2		2	EPPK1	8	143870896	Silent	SNP	C	C3N-01489_TP	220017	143870896	1267740	361	26907											
TONSL	0	.	GRCh38	chr8	144436126	144436126	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaggcgtccaggctgcCacccgttgtgctgtggccga	4	7	16	14	3	0	0	0	0	0	0	1	1	1	0	5	4	2	3	5	4	0	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2307G>T	p.=	p.V769V	ENST00000409379	17/26	84	74	10	103	103	0	strelka-varscan-mutect	TONSL,synonymous_variant,p.=,ENST00000409379,NM_013432.4;TONSL,downstream_gene_variant,,ENST00000613741,;MIR6893,upstream_gene_variant,,ENST00000613458,;TONSL-AS1,upstream_gene_variant,,ENST00000442850,;TONSL,non_coding_transcript_exon_variant,,ENST00000497613,;	A	ENST00000409379	Transcript	synonymous_variant	2337/4502	2307/4137	769/1378	V	gtG/gtT		1		-1	TONSL	HGNC	HGNC:7801	protein_coding	YES	CCDS34968.2	ENSP00000386239	Q96HA7		UPI0000424A3B	NM_013432.4			17/26		hmmpanther:PTHR24139,hmmpanther:PTHR24139:SF31																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	144436126	144436126	C	A	1	0	0	0	0	0	0	0	1	16838	581	21	2		2	TONSL	8	144436126	Silent	SNP	C	C3N-01489_TP	565230	144436126	702510	362	26908											
JAK2	0	.	GRCh38	chr9	5064930	5064930	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttgtctttcgtgtcattAattgatggatattatagatt	9	20	8	4	1	2	2	1	1	1	1	3	3	2	3	0	1	0	1	0	1	4	8	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.1104A>C	p.Leu368Phe	p.L368F	ENST00000381652	9/25	93	77	16	129	129	0	strelka-varscan-mutect	JAK2,missense_variant,p.Leu368Phe,ENST00000381652,NM_001322195.1,NM_001322194.1,NM_001322196.1,NM_004972.3;JAK2,missense_variant,p.Leu368Phe,ENST00000636127,;	C	ENST00000381652	Transcript	missense_variant	1598/5285	1104/3399	368/1132	L/F	ttA/ttC		1		1	JAK2	HGNC	HGNC:6192	protein_coding	YES	CCDS6457.1	ENSP00000371067	O60674		UPI000012DA9E	NM_001322195.1,NM_001322194.1,NM_001322196.1,NM_004972.3	deleterious(0)		9/25		PROSITE_profiles:PS50057,hmmpanther:PTHR24418:SF179,hmmpanther:PTHR24418,PIRSF_domain:PIRSF000636,Superfamily_domains:SSF50729,Prints_domain:PR01823																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	5064930	5064930	A	C	1	0	0	0	0	1	0	0	0	7851	359	13	5		5	JAK2	9	5064930	Missense_Mutation	SNP	A	C3N-01489_TP		5064930	133329787	363	26909											
RIC1	0	.	GRCh38	chr9	5720216	5720216	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaagatctcctggttgctActtctgatggacttcttcat	7	16	9	9	0	4	2	1	1	3	1	5	4	4	4	1	3	2	2	1	3	2	5	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.475A>T	p.Thr159Ser	p.T159S	ENST00000414202	5/26	109	102	7	169	169	0	strelka-varscan-mutect	RIC1,missense_variant,p.Thr159Ser,ENST00000414202,NM_020829.3;RIC1,missense_variant,p.Thr159Ser,ENST00000418622,NM_001206557.1;RIC1,missense_variant,p.Thr159Ser,ENST00000251879,NM_001135920.2;RIC1,missense_variant,p.Thr88Ser,ENST00000545641,;RP11-207C16.4,non_coding_transcript_exon_variant,,ENST00000426764,;RIC1,non_coding_transcript_exon_variant,,ENST00000276898,;	T	ENST00000414202	Transcript	missense_variant	666/6774	475/4272	159/1423	T/S	Act/Tct		1		1	RIC1	HGNC	HGNC:17686	protein_coding	YES	CCDS34982.2	ENSP00000416696	Q4ADV7		UPI00002110DE	NM_020829.3	tolerated(0.05)		5/26		Gene3D:2.130.10.10,hmmpanther:PTHR22746,hmmpanther:PTHR22746:SF10,Superfamily_domains:SSF50978																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	81	5720216	5720216	A	T	1	0	0	0	0	1	0	0	0	13527	391	14	4		4	RIC1	9	5720216	Missense_Mutation	SNP	A	C3N-01489_TP	655286	5720216	132674501	364	26910											
KIAA2026	0	.	GRCh38	chr9	5968640	5968640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgaaggaagagggcaGgctatctctgctacatctat	10	13	10	8	0	3	2	0	1	3	1	4	3	3	3	0	3	2	3	0	3	5	5	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1591C>A	p.Leu531Met	p.L531M	ENST00000399933	3/8	138	122	16	244	243	1	strelka-varscan-mutect	KIAA2026,missense_variant,p.Leu531Met,ENST00000399933,NM_001017969.2;KIAA2026,missense_variant,p.Leu531Met,ENST00000381461,;KIAA2026,missense_variant,p.Leu464Met,ENST00000513355,;KIAA2026,upstream_gene_variant,,ENST00000540714,;	T	ENST00000399933	Transcript	missense_variant	1591/6988	1591/6312	531/2103	L/M	Ctg/Atg		1		-1	KIAA2026	HGNC	HGNC:23378	protein_coding	YES		ENSP00000382815	Q5HYC2		UPI0001533DB0	NM_001017969.2	deleterious(0.01)		3/8		hmmpanther:PTHR31095,hmmpanther:PTHR31095:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	5968640	5968640	G	T	1	0	0	0	0	1	0	0	0	8134	991	35	2		2	KIAA2026	9	5968640	Missense_Mutation	SNP	G	C3N-01489_TP	248424	5968640	132426077	365	26911											
PTPRD	0	.	GRCh38	chr9	8319908	8319908	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctacaactccttcatatcTcattctttccaaaacaatgc	13	14	1	13	0	4	0	2	0	3	0	7	0	6	0	2	0	4	0	2	0	6	5	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.5593A>T	p.Arg1865Ter	p.R1865*	ENST00000381196	42/43	160	142	18	282	282	0	strelka-varscan-mutect	PTPRD,stop_gained,p.Arg1865Ter,ENST00000381196,NM_002839.3;PTPRD,stop_gained,p.Arg1865Ter,ENST00000356435,;PTPRD,stop_gained,p.Arg1459Ter,ENST00000355233,NM_130392.3;PTPRD,stop_gained,p.Arg1458Ter,ENST00000397617,;PTPRD,stop_gained,p.Arg1455Ter,ENST00000397611,NM_001040712.2;PTPRD,stop_gained,p.Arg1449Ter,ENST00000537002,NM_130393.3;PTPRD,stop_gained,p.Arg1865Ter,ENST00000540109,;PTPRD,stop_gained,p.Arg1458Ter,ENST00000486161,NM_130391.3;PTPRD,stop_gained,p.Arg1458Ter,ENST00000397606,NM_001171025.1;	A	ENST00000381196	Transcript	stop_gained	6137/9911	5593/5739	1865/1912	R/*	Aga/Tga		1		-1	PTPRD	HGNC	HGNC:9668	protein_coding	YES	CCDS43786.1	ENSP00000370593	P23468		UPI0000132990	NM_002839.3			42/43		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF313,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	81	8319908	8319908	T	A	1	0	0	0	0	0	1	0	0	12953	1559	54	4		4	PTPRD	9	8319908	Nonsense_Mutation	SNP	T	C3N-01489_TP	2351268	8319908	130074809	366	26912											
TAF1L	0	.	GRCh38	chr9	32632391	32632391	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccacgggcaaatttactCatgggcccctctccagaatg	10	9	9	13	1	2	1	1	0	1	1	4	2	3	1	4	2	1	1	4	2	3	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.3189G>T	p.Met1063Ile	p.M1063I	ENST00000242310	1/1	258	231	27	397	397	0	varscan-mutect	TAF1L,missense_variant,p.Met1063Ile,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;	A	ENST00000242310	Transcript	missense_variant	3279/6216	3189/5481	1063/1826	M/I	atG/atT		1		-1	TAF1L	HGNC	HGNC:18056	protein_coding	YES	CCDS35003.1	ENSP00000418379	Q8IZX4		UPI000007408A	NM_153809.2	deleterious(0.05)		1/1		PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0																	MODERATE		SNV				1										PASS		rs1320786616	.												A	3	1	81	32632391	32632391	C	A	1	0	0	0	0	1	0	0	0	15919	826	29	2		2	TAF1L	9	32632391	Missense_Mutation	SNP	C	C3N-01489_TP	24312483	32632391	105762326	367	26913											
SMU1	0	.	GRCh38	chr9	33056845	33056845	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttttacttacctaattgtCtggtcaaaagaagcactaag	14	14	6	7	0	2	1	1	0	1	1	2	1	2	1	1	1	3	1	1	1	7	7	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.987G>A	p.=	p.Q329Q	ENST00000397149	8/12	107	90	17	133	133	0	varscan-mutect	SMU1,synonymous_variant,p.=,ENST00000397149,NM_018225.2;	T	ENST00000397149	Transcript	synonymous_variant	1038/7122	987/1542	329/513	Q	caG/caA		1		-1	SMU1	HGNC	HGNC:18247	protein_coding	YES	CCDS6534.1	ENSP00000380336	Q2TAY7	A0MNN4	UPI0000022E9B	NM_018225.2			8/12		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22848,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	33056845	33056845	C	T	1	0	0	0	0	0	0	0	1	15138	912	32	3		3	SMU1	9	33056845	Silent	SNP	C	C3N-01489_TP	424454	33056845	105337872	368	26914											
FAM205A	0	.	GRCh38	chr9	34726598	34726598	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctatggtgtttgggccccgGagcacatctggcacttgaaa	8	10	13	10	1	1	1	0	1	1	0	1	2	1	2	2	4	1	4	2	4	2	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.642C>A	p.=	p.L214L	ENST00000378788	4/4	153	142	11	234	234	0	varscan-mutect	FAM205A,synonymous_variant,p.=,ENST00000378788,NM_001141917.1;	T	ENST00000378788	Transcript	synonymous_variant	682/4225	642/4008	214/1335	L	ctC/ctA		1		-1	FAM205A	HGNC	HGNC:41911	protein_coding	YES	CCDS55305.1	ENSP00000417711	Q6ZU69		UPI00017EE92B	NM_001141917.1			4/4		hmmpanther:PTHR21859:SF15,hmmpanther:PTHR21859																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	81	34726598	34726598	G	T	1	0	0	0	0	0	0	0	1	5386	1161	41	2		2	FAM205A	9	34726598	Silent	SNP	G	C3N-01489_TP	1669753	34726598	103668119	369	26915											
TLN1	0	.	GRCh38	chr9	35699056	35699056	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtttggcccggggcttcagCtgctctagctttttggctgc	2	14	14	11	1	2	0	1	0	1	0	2	0	2	0	1	5	4	6	1	5	1	5	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.6975G>T	p.Gln2325His	p.Q2325H	ENST00000314888	52/57	68	60	8	95	95	0	strelka-varscan-mutect	TLN1,missense_variant,p.Gln2325His,ENST00000314888,NM_006289.3;TLN1,non_coding_transcript_exon_variant,,ENST00000489255,;TLN1,downstream_gene_variant,,ENST00000464379,;TLN1,downstream_gene_variant,,ENST00000465002,;TLN1,downstream_gene_variant,,ENST00000466916,;	A	ENST00000314888	Transcript	missense_variant	7329/8823	6975/7626	2325/2541	Q/H	caG/caT		1		-1	TLN1	HGNC	HGNC:11845	protein_coding	YES	CCDS35009.1	ENSP00000316029	Q9Y490		UPI0000211375	NM_006289.3	deleterious(0.01)		52/57		Low_complexity_(Seg):seg,PROSITE_profiles:PS50945,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF7,Gene3D:1r0dB00,Superfamily_domains:SSF109885																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	35699056	35699056	C	A	1	0	0	0	0	1	0	0	0	16393	796	28	2		2	TLN1	9	35699056	Missense_Mutation	SNP	C	C3N-01489_TP	972458	35699056	102695661	370	26916											
OR2S2	0	.	GRCh38	chr9	35958083	35958083	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccatcacaggggaggtctCattggctttttccatgtgat	7	13	10	11	0	2	1	2	1	1	0	4	2	3	2	3	4	0	1	3	4	0	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.16G>C	p.Glu6Gln	p.E6Q	ENST00000341959	1/1	79	69	10	109	109	0	strelka-varscan-mutect	OR2S2,missense_variant,p.Glu6Gln,ENST00000341959,NM_019897.2;	G	ENST00000341959	Transcript	missense_variant	72/1047	16/960	6/319	E/Q	Gag/Cag		1		-1	OR2S2	HGNC	HGNC:8276	protein_coding	YES	CCDS6596.2	ENSP00000344040	Q9NQN1		UPI000003FF74	NM_019897.2	tolerated(1)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF176,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	81	35958083	35958083	C	G	1	0	0	0	0	1	0	0	0	11093	835	29	4		4	OR2S2	9	35958083	Missense_Mutation	SNP	C	C3N-01489_TP	259027	35958083	102436634	371	26917											
CARNMT1	0	.	GRCh38	chr9	74984909	74984909	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttattccattcttacctCtaccttgaatccatactgca	10	17	2	12	0	2	1	0	1	2	0	4	1	4	1	4	0	4	1	4	0	5	8	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1126G>T	p.Glu376Ter	p.E376*	ENST00000376834	7/8	88	74	14	123	123	0	strelka-varscan-mutect	CARNMT1,stop_gained,p.Glu376Ter,ENST00000376834,NM_001320497.1,NM_152420.1;C9orf41-AS1,intron_variant,,ENST00000455609,;	A	ENST00000376834	Transcript	stop_gained,splice_region_variant	1279/4130	1126/1230	376/409	E/*	Gag/Tag		1		-1	CARNMT1	HGNC	HGNC:23435	protein_coding	YES	CCDS6649.1	ENSP00000366030	Q8N4J0		UPI000006D991	NM_001320497.1,NM_152420.1			7/8		hmmpanther:PTHR12303:SF6,hmmpanther:PTHR12303,Gene3D:3.40.50.150,Pfam_domain:PF07942,SMART_domains:SM01296,Superfamily_domains:SSF53335																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	81	74984909	74984909	C	A	1	0	0	0	0	0	1	0	0	2354	927	32	2		2	CARNMT1	9	74984909	Nonsense_Mutation	SNP	C	C3N-01489_TP	39026826	74984909	63409808	372	26918											
SPATA31D1	0	.	GRCh38	chr9	81988862	81988862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaacagctatactgagacagGgctgagccctgactcacatt	12	8	10	11	0	1	3	1	3	0	1	1	5	1	3	1	1	4	2	1	1	3	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.44G>T	p.Gly15Val	p.G15V	ENST00000344803	1/4	187	158	29	377	376	1	strelka-varscan-mutect	SPATA31D1,missense_variant,p.Gly15Val,ENST00000344803,NM_001001670.2;RP11-15B24.5,intron_variant,,ENST00000637606,;SPATA31D1,non_coding_transcript_exon_variant,,ENST00000603921,;	T	ENST00000344803	Transcript	missense_variant	91/4833	44/4731	15/1576	G/V	gGg/gTg		1		1	SPATA31D1	HGNC	HGNC:37283	protein_coding	YES	CCDS47986.1	ENSP00000341988	Q6ZQQ2		UPI00001C10A6	NM_001001670.2	tolerated_low_confidence(0.32)		1/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF12																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	81	81988862	81988862	G	T	1	0	0	0	0	1	0	0	0	15347	1232	43	2		2	SPATA31D1	9	81988862	Missense_Mutation	SNP	G	C3N-01489_TP	7003953	81988862	56405855	373	26919											
NUTM2F	0	.	GRCh38	chr9	94325617	94325617	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acctccacagagggtgcctgGagcctgccagacgagggggg	8	4	17	12	1	0	2	0	0	0	2	1	4	1	3	5	5	3	0	5	5	0	0	rs774933572		C3N-01489_TP	C3N-01489_NB	G	G																c.334C>G	p.Pro112Ala	p.P112A	ENST00000253262	2/7	91	81	10	153	153	0	varscan-mutect	NUTM2F,missense_variant,p.Pro112Ala,ENST00000253262,NM_017561.1;NUTM2F,missense_variant,p.Pro112Ala,ENST00000341207,;	C	ENST00000253262	Transcript	missense_variant	355/2561	334/2271	112/756	P/A	Cca/Gca	rs774933572	1		-1	NUTM2F	HGNC	HGNC:23450	protein_coding	YES	CCDS47994.1	ENSP00000253262	A1L443		UPI00001D771D	NM_017561.1	tolerated(0.11)		2/7		Pfam_domain:PF12881,hmmpanther:PTHR22879,hmmpanther:PTHR22879:SF12																	MODERATE	1	SNV	1			1										PASS		rs774933572	.												C	3	2	81	94325617	94325617	G	C	1	0	0	0	0	1	0	0	0	10851	1174	41	4		4	NUTM2F	9	94325617	Missense_Mutation	SNP	G	C3N-01489_TP	12336755	94325617	44069100	374	26920											
PAPPA	0	.	GRCh38	chr9	116332372	116332372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgccgcagctgtcattGtccacctggtgacggatggg	5	11	15	10	2	1	1	1	1	0	0	2	2	2	2	3	4	2	3	3	4	0	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.3301G>A	p.Val1101Ile	p.V1101I	ENST00000328252	12/22	99	86	13	133	133	0	strelka-varscan-mutect	PAPPA,missense_variant,p.Val1101Ile,ENST00000328252,NM_002581.3;PAPPA,upstream_gene_variant,,ENST00000460463,;	A	ENST00000328252	Transcript	missense_variant	3670/10959	3301/4884	1101/1627	V/I	Gtc/Atc		1		1	PAPPA	HGNC	HGNC:8602	protein_coding	YES	CCDS6813.1	ENSP00000330658	Q13219		UPI00001E0589	NM_002581.3	tolerated(1)		12/22																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	116332372	116332372	G	A	1	0	0	0	0	1	0	0	0	11512	1377	48	3		3	PAPPA	9	116332372	Missense_Mutation	SNP	G	C3N-01489_TP	22006755	116332372	22062345	375	26921											
C9orf78	0	.	GRCh38	chr9	129829295	129829295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgggcgcgttgagctcctCatgataaactggacccaaag	11	9	11	10	2	1	2	1	2	0	0	2	3	2	3	2	2	2	2	2	2	4	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.688G>C	p.Glu230Gln	p.E230Q	ENST00000372447	8/9	48	43	5	113	113	0	strelka-varscan-mutect	C9orf78,missense_variant,p.Glu230Gln,ENST00000372447,NM_016520.2;C9orf78,non_coding_transcript_exon_variant,,ENST00000461762,;C9orf78,non_coding_transcript_exon_variant,,ENST00000480023,;C9orf78,non_coding_transcript_exon_variant,,ENST00000461349,;C9orf78,non_coding_transcript_exon_variant,,ENST00000461539,;C9orf78,downstream_gene_variant,,ENST00000492991,;C9orf78,downstream_gene_variant,,ENST00000495934,;	G	ENST00000372447	Transcript	missense_variant	742/1795	688/870	230/289	E/Q	Gag/Cag		1		-1	C9orf78	HGNC	HGNC:24932	protein_coding	YES	CCDS6931.1	ENSP00000361524	Q9NZ63		UPI000006F0CA	NM_016520.2	deleterious(0.02)		8/9		hmmpanther:PTHR13486:SF2,hmmpanther:PTHR13486																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	129829295	129829295	C	G	1	0	0	0	0	1	0	0	0	2191	835	29	4		4	C9orf78	9	129829295	Missense_Mutation	SNP	C	C3N-01489_TP	13496923	129829295	8565422	376	26922											
GFI1B	0	.	GRCh38	chr9	132986775	132986775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggcctcctgcccttaccCcgggtgagtcagagcccggg	4	8	13	16	2	2	2	1	1	1	1	3	2	3	2	6	3	3	0	6	3	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.97C>A	p.Pro33Thr	p.P33T	ENST00000339463	6/11	140	124	16	240	240	0	strelka-varscan-mutect	GFI1B,missense_variant,p.Pro33Thr,ENST00000339463,NM_004188.5;GFI1B,missense_variant,p.Pro33Thr,ENST00000636137,;GFI1B,missense_variant,p.Pro33Thr,ENST00000372122,;GFI1B,missense_variant,p.Pro33Thr,ENST00000636263,;GFI1B,missense_variant,p.Pro33Thr,ENST00000372123,NM_001135031.1;	A	ENST00000339463	Transcript	missense_variant	916/2449	97/993	33/330	P/T	Ccg/Acg		1		1	GFI1B	HGNC	HGNC:4238	protein_coding	YES	CCDS6957.1	ENSP00000344782	Q5VTD9		UPI000013E4EE	NM_004188.5	tolerated(0.24)		6/11																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	132986775	132986775	C	A	1	0	0	0	0	1	0	0	0	6214	637	22	2		2	GFI1B	9	132986775	Missense_Mutation	SNP	C	C3N-01489_TP	3157480	132986775	5407942	377	26923											
PPP1R26	0	.	GRCh38	chr9	135484902	135484902	+	Frame_Shift_Del	DEL	G	G	-																															cagtgatgattccgtggacaGggacattgaggaggccatcc																								novel		C3N-01489_TP	C3N-01489_NB	G	G																c.394delG	p.Asp132ThrfsTer10	p.D132Tfs*10	ENST00000356818	4/4	34	26	8	51	51	0	sindel-varindel-pindel	PPP1R26,frameshift_variant,p.Asp132ThrfsTer10,ENST00000356818,NM_014811.3;PPP1R26,frameshift_variant,p.Asp132ThrfsTer10,ENST00000401470,;PPP1R26,frameshift_variant,p.Asp132ThrfsTer10,ENST00000605286,;PPP1R26,frameshift_variant,p.Asp132ThrfsTer10,ENST00000604351,;PPP1R26,frameshift_variant,p.Asp132ThrfsTer10,ENST00000605660,;PPP1R26-AS1,upstream_gene_variant,,ENST00000455039,;PPP1R26-AS1,upstream_gene_variant,,ENST00000603893,;PPP1R26-AS1,upstream_gene_variant,,ENST00000605260,;PPP1R26,intron_variant,,ENST00000602993,;	-	ENST00000356818	Transcript	frameshift_variant	941/4932	392/3630	131/1209	R/X	aGg/ag		1		1	PPP1R26	HGNC	HGNC:29089	protein_coding	YES	CCDS6988.1	ENSP00000349274	Q5T8A7		UPI000013DB17	NM_014811.3			4/4		Pfam_domain:PF15740,hmmpanther:PTHR15724																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	81	135484902	135484902	G	-	1	0	1	0	1	0	0	0	0	12484	1000	35	0		0	PPP1R26	9	135484902	Frame_Shift_Del	DEL	G	C3N-01489_TP	2498127	135484902	2909815	378	26924											
ABCA2	0	.	GRCh38	chr9	137016958	137016958	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaccacgtgaggatgccaTagaccacggcgtccaccatc	10	7	10	14	3	0	2	0	1	0	1	2	3	1	3	5	2	2	1	5	2	2	2	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.2720A>G	p.Tyr907Cys	p.Y907C	ENST00000341511	19/49	189	161	28	252	252	0	strelka-varscan-mutect	ABCA2,missense_variant,p.Tyr907Cys,ENST00000265662,;ABCA2,missense_variant,p.Tyr906Cys,ENST00000371605,;ABCA2,missense_variant,p.Tyr937Cys,ENST00000614293,;ABCA2,missense_variant,p.Tyr907Cys,ENST00000341511,NM_001606.4,NM_212533.2;ABCA2,missense_variant,p.Tyr936Cys,ENST00000487109,;ABCA2,missense_variant,p.Tyr257Cys,ENST00000479446,;ABCA2,missense_variant,p.Tyr254Cys,ENST00000488535,;ABCA2,non_coding_transcript_exon_variant,,ENST00000459850,;ABCA2,downstream_gene_variant,,ENST00000464876,;ABCA2,downstream_gene_variant,,ENST00000492260,;ABCA2,downstream_gene_variant,,ENST00000494046,;ABCA2,downstream_gene_variant,,ENST00000476211,;ABCA2,upstream_gene_variant,,ENST00000431584,;ABCA2,downstream_gene_variant,,ENST00000398207,;ABCA2,downstream_gene_variant,,ENST00000470535,;ABCA2,downstream_gene_variant,,ENST00000466707,;ABCA2,downstream_gene_variant,,ENST00000467624,;	C	ENST00000341511	Transcript	missense_variant	2770/8063	2720/7311	907/2436	Y/C	tAt/tGt		1		-1	ABCA2	HGNC	HGNC:32	protein_coding	YES	CCDS43909.1	ENSP00000344155	Q9BZC7		UPI0000049F97	NM_001606.4,NM_212533.2	deleterious(0)		19/49		Transmembrane_helices:TMhelix,hmmpanther:PTHR19229:SF116,hmmpanther:PTHR19229,Pfam_domain:PF12698																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	81	137016958	137016958	T	C	1	0	0	0	0	1	0	0	0	36	1406	49	5		5	ABCA2	9	137016958	Missense_Mutation	SNP	T	C3N-01489_TP	1532056	137016958	1377759	379	26925											
TPRN	0	.	GRCh38	chr9	137199598	137199598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcaccatcccctccaggcaCcggctgggatccgagctcct	6	6	10	19	3	0	0	0	0	0	0	4	2	4	1	7	3	1	4	7	3	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1114G>T	p.Val372Leu	p.V372L	ENST00000409012	1/4	172	153	19	263	263	0	strelka-varscan-mutect	TPRN,missense_variant,p.Val372Leu,ENST00000409012,NM_001128228.2;TPRN,missense_variant,p.Val170Leu,ENST00000333046,;TMEM203,downstream_gene_variant,,ENST00000343666,NM_053045.1;TPRN,intron_variant,,ENST00000541945,;TPRN,upstream_gene_variant,,ENST00000477345,;	A	ENST00000409012	Transcript	missense_variant	1201/2718	1114/2136	372/711	V/L	Gtg/Ttg		1		-1	TPRN	HGNC	HGNC:26894	protein_coding	YES	CCDS56594.1	ENSP00000387100	Q4KMQ1		UPI0001722188	NM_001128228.2	tolerated(0.23)		1/4		hmmpanther:PTHR21685:SF1,hmmpanther:PTHR21685																	MODERATE	1	SNV	1			1										PASS		rs1440793236	.												A	3	1	81	137199598	137199598	C	A	1	0	0	0	0	1	0	0	0	16902	507	18	2		2	TPRN	9	137199598	Missense_Mutation	SNP	C	C3N-01489_TP	182640	137199598	1195119	380	26926											
EXD3	0	.	GRCh38	chr9	137349525	137349525	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggctggcacgctcgccaCccgcatctgctaagacagtg	7	7	13	14	3	1	1	0	0	1	1	2	1	1	1	2	3	1	5	2	3	1	1	rs551667120		C3N-01489_TP	C3N-01489_NB	C	C																c.1501G>T	p.Val501Leu	p.V501L	ENST00000340951	15/22	38	32	6	61	61	0	strelka-varscan-mutect	EXD3,missense_variant,p.Val501Leu,ENST00000340951,NM_017820.4;EXD3,non_coding_transcript_exon_variant,,ENST00000484392,;EXD3,downstream_gene_variant,,ENST00000490886,;EXD3,downstream_gene_variant,,ENST00000478350,;EXD3,3_prime_UTR_variant,,ENST00000478344,;EXD3,3_prime_UTR_variant,,ENST00000491734,;EXD3,non_coding_transcript_exon_variant,,ENST00000487745,;EXD3,downstream_gene_variant,,ENST00000472958,;	A	ENST00000340951	Transcript	missense_variant	1697/2872	1501/2631	501/876	V/L	Gtg/Ttg	rs551667120	1		-1	EXD3	HGNC	HGNC:26023	protein_coding	YES	CCDS48066.1	ENSP00000340474	Q8N9H8	A0A140VJP9	UPI00003676BC	NM_017820.4	tolerated(0.37)		15/22		hmmpanther:PTHR13620:SF10,hmmpanther:PTHR13620,Pfam_domain:PF01612,SMART_domains:SM00474,Superfamily_domains:SSF53098																	MODERATE	1	SNV	2			1										PASS		rs551667120	.												A	3	1	81	137349525	137349525	C	A	1	0	0	0	0	1	0	0	0	5166	507	18	2		2	EXD3	9	137349525	Missense_Mutation	SNP	C	C3N-01489_TP	149927	137349525	1045192	381	26927											
GDI2	0	.	GRCh38	chr10	5800707	5800707	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctgacaggatacattccTatagaaaaagcatagtacct	16	10	6	9	0	0	2	0	1	0	1	1	3	1	3	3	1	4	2	3	1	8	7	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.46-2A>T		p.X16_splice	ENST00000380191		152	138	14	190	190	0	strelka-mutect	GDI2,splice_acceptor_variant,,ENST00000380191,NM_001494.3;GDI2,splice_acceptor_variant,,ENST00000380181,NM_001115156.1;GDI2,splice_acceptor_variant,,ENST00000456041,;GDI2,splice_acceptor_variant,,ENST00000608581,;GDI2,splice_acceptor_variant,,ENST00000609712,;GDI2,splice_acceptor_variant,,ENST00000380127,;GDI2,intron_variant,,ENST00000418688,;	A	ENST00000380191	Transcript	splice_acceptor_variant	-/2412	46/1338	16/445				1		-1	GDI2	HGNC	HGNC:4227	protein_coding	YES	CCDS7071.1	ENSP00000369538	P50395	Q6IAT1	UPI000012B39E	NM_001494.3				1/10																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	81	5800707	5800707	T	A	1	0	0	0	0	0	0	1	0	6194	1536	53	4		4	GDI2	10	5800707	Splice_Site	SNP	T	C3N-01489_TP		5800707	127996715	382	26928											
PRKCQ	0	.	GRCh38	chr10	6456731	6456731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtcttggcatctcctaaCatgttctccttgcacattcc	6	16	5	14	1	3	0	0	0	3	0	7	0	4	0	3	1	2	3	3	1	1	6	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1590G>T	p.Met530Ile	p.M530I	ENST00000263125	15/18	245	217	28	326	325	1	strelka-varscan-mutect	PRKCQ,missense_variant,p.Met530Ile,ENST00000263125,NM_001323265.1,NM_006257.4,NM_001282644.1;PRKCQ,missense_variant,p.Met405Ile,ENST00000539722,NM_001323266.1,NM_001282645.1;PRKCQ,missense_variant,p.Met530Ile,ENST00000397176,NM_001242413.2;PRKCQ,missense_variant,p.Met494Ile,ENST00000610727,;	A	ENST00000263125	Transcript	missense_variant	1690/3285	1590/2121	530/706	M/I	atG/atT		1		-1	PRKCQ	HGNC	HGNC:9410	protein_coding	YES	CCDS7079.1	ENSP00000263125	Q04759		UPI000012DF74	NM_001323265.1,NM_006257.4,NM_001282644.1	tolerated(1)		15/18		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501105,PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF181,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	6456731	6456731	C	A	1	0	0	0	0	1	0	0	0	12648	478	17	2		2	PRKCQ	10	6456731	Missense_Mutation	SNP	C	C3N-01489_TP	656024	6456731	127340691	383	26929											
DHTKD1	0	.	GRCh38	chr10	12084575	12084575	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggaagaggcctcacttGaggaagtgttagtctatctc	11	10	13	7	0	3	2	1	1	2	1	4	5	3	5	1	4	0	1	1	4	5	3			C3N-01489_TP	C3N-01489_NB	G	G																c.346G>T	p.Glu116Ter	p.E116*	ENST00000263035	3/17	211	180	31	320	320	0	strelka-varscan-mutect	DHTKD1,stop_gained,p.Glu116Ter,ENST00000263035,NM_018706.6;DHTKD1,stop_gained,p.Glu116Ter,ENST00000437298,;DHTKD1,upstream_gene_variant,,ENST00000415935,;DHTKD1,intron_variant,,ENST00000465617,;	T	ENST00000263035	Transcript	stop_gained	408/5159	346/2760	116/919	E/*	Gag/Tag	COSM5094920	1		1	DHTKD1	HGNC	HGNC:23537	protein_coding	YES	CCDS7087.1	ENSP00000263035	Q96HY7		UPI000013D38C	NM_018706.6			3/17		hmmpanther:PTHR23152:SF11,hmmpanther:PTHR23152,PIRSF_domain:PIRSF000157,TIGRFAM_domain:TIGR00239,Superfamily_domains:SSF52518											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	81	12084575	12084575	G	T	1	0	0	0	0	0	1	0	0	4304	1291	45	2		2	DHTKD1	10	12084575	Nonsense_Mutation	SNP	G	C3N-01489_TP	5627844	12084575	121712847	384	26930											
APBB1IP	0	.	GRCh38	chr10	26496326	26496326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggagttgacactctccCtcctcctgaccctaatccac	8	12	5	16	0	1	2	0	2	1	0	5	3	4	3	5	1	0	1	5	1	2	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.95C>G	p.Pro32Arg	p.P32R	ENST00000376236	4/15	168	155	13	276	276	0	strelka-varscan-mutect	APBB1IP,missense_variant,p.Pro32Arg,ENST00000376236,NM_019043.3;APBB1IP,missense_variant,p.Pro32Arg,ENST00000356785,;	G	ENST00000376236	Transcript	missense_variant	550/2771	95/2001	32/666	P/R	cCt/cGt		1		1	APBB1IP	HGNC	HGNC:17379	protein_coding	YES	CCDS31167.1	ENSP00000365411	Q7Z5R6		UPI00001AF165	NM_019043.3	tolerated(0.13)		4/15		hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF14,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	81	26496326	26496326	C	G	1	0	0	0	0	1	0	0	0	880	681	24	4		4	APBB1IP	10	26496326	Missense_Mutation	SNP	C	C3N-01489_TP	14411751	26496326	107301096	385	26931											
PARD3	0	.	GRCh38	chr10	34119714	34119714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggacaccgagtgtcgcccGctctgcgtcgccggccgtgc	4	6	14	17	8	1	0	0	0	1	0	3	2	1	1	4	2	2	1	4	2	0	0	rs745473559		C3N-01489_TP	C3N-01489_NB	G	G																c.3576C>A	p.Ser1192Arg	p.S1192R	ENST00000374789	24/25	115	105	10	170	170	0	strelka-varscan-mutect	PARD3,missense_variant,p.Ser1192Arg,ENST00000374789,NM_019619.3;PARD3,missense_variant,p.Ser1189Arg,ENST00000374788,NM_001184785.1;PARD3,missense_variant,p.Ser1176Arg,ENST00000545693,NM_001184786.1;PARD3,missense_variant,p.Ser1155Arg,ENST00000346874,NM_001184787.1;PARD3,missense_variant,p.Ser1146Arg,ENST00000350537,NM_001184789.1,NM_001184788.1;PARD3,missense_variant,p.Ser1132Arg,ENST00000374790,;PARD3,missense_variant,p.Ser1102Arg,ENST00000545260,NM_001184790.1;PARD3,missense_variant,p.Ser1080Arg,ENST00000374794,NM_001184791.1;	T	ENST00000374789	Transcript	missense_variant	3902/6005	3576/4071	1192/1356	S/R	agC/agA	rs745473559	1		-1	PARD3	HGNC	HGNC:16051	protein_coding	YES	CCDS7178.1	ENSP00000363921	Q8TEW0		UPI0000073A9F	NM_019619.3	deleterious_low_confidence(0.02)		24/25		hmmpanther:PTHR16484,hmmpanther:PTHR16484:SF10																	MODERATE	1	SNV	1			1										PASS		rs745473559	.												T	3	4	81	34119714	34119714	G	T	1	0	0	0	0	1	0	0	0	11523	1078	38	1		1	PARD3	10	34119714	Missense_Mutation	SNP	G	C3N-01489_TP	7623388	34119714	99677708	386	26932											
ZNF37A	0	.	GRCh38	chr10	38117467	38117467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggaaaatgtttctgtgatGaaaagcatgaaataattcat	16	13	9	3	0	2	3	1	3	1	0	2	4	2	4	0	1	1	2	0	1	6	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.316G>A	p.Glu106Lys	p.E106K	ENST00000361085	7/7	77	66	11	132	132	0	strelka-varscan-mutect	ZNF37A,missense_variant,p.Glu106Lys,ENST00000361085,NM_001178101.1,NM_003421.2;ZNF37A,missense_variant,p.Glu106Lys,ENST00000351773,NM_001324248.1,NM_001324246.1,NM_001324249.1,NM_001007094.2;ZNF37A,intron_variant,,ENST00000638053,NM_001324256.1;ZNF37A,downstream_gene_variant,,ENST00000479469,;ZNF37A,downstream_gene_variant,,ENST00000477790,;	A	ENST00000361085	Transcript	missense_variant	661/8738	316/1686	106/561	E/K	Gaa/Aaa		1		1	ZNF37A	HGNC	HGNC:13102	protein_coding	YES	CCDS31183.1	ENSP00000354377	P17032		UPI000006E045	NM_001178101.1,NM_003421.2	tolerated(0.89)		7/7		Low_complexity_(Seg):seg,hmmpanther:PTHR24377:SF188,hmmpanther:PTHR24377																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	81	38117467	38117467	G	A	1	0	0	0	0	1	0	0	0	18444	1291	45	3		3	ZNF37A	10	38117467	Missense_Mutation	SNP	G	C3N-01489_TP	3997753	38117467	95679955	387	26933											
RET	0	.	GRCh38	chr10	43100653	43100653	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaactggatctgcatccagGaggacaccggcctcctctac	10	7	9	15	1	2	0	0	0	2	0	4	3	4	3	4	4	3	1	4	4	2	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.268G>T	p.Glu90Ter	p.E90*	ENST00000355710	2/20	377	337	40	487	486	1	strelka-varscan-mutect	RET,stop_gained,p.Glu90Ter,ENST00000355710,NM_020975.4;RET,stop_gained,p.Glu90Ter,ENST00000615310,;RET,stop_gained,p.Glu90Ter,ENST00000340058,NM_020630.4;RET,intron_variant,,ENST00000498820,;RET,upstream_gene_variant,,ENST00000479913,;	T	ENST00000355710	Transcript	stop_gained	500/5659	268/3345	90/1114	E/*	Gag/Tag		1		1	RET	HGNC	HGNC:9967	protein_coding	YES	CCDS7200.1	ENSP00000347942	P07949	A0A024R7T2	UPI00001336E1	NM_020975.4			2/20		PIRSF_domain:PIRSF000631																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	81	43100653	43100653	G	T	1	0	0	0	0	0	1	0	0	13406	1175	41	2		2	RET	10	43100653	Nonsense_Mutation	SNP	G	C3N-01489_TP	4983186	43100653	90696769	388	26934											
ANTXRL	0	.	GRCh38	chr10	46311650	46311650	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggatgccaaggagtgggcggGatgagaaggatagaggtgag	12	5	21	3	1	0	3	0	2	0	2	0	8	0	7	1	6	1	0	1	6	3	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1314G>A	p.=	p.G438G	ENST00000620264	15/17	109	94	15	153	153	0	strelka-varscan-mutect	ANTXRL,synonymous_variant,p.=,ENST00000620264,NM_001278688.2;ANTXRL,synonymous_variant,p.=,ENST00000622632,;ANTXRL,3_prime_UTR_variant,,ENST00000617088,;ANTXRL,downstream_gene_variant,,ENST00000614267,;	A	ENST00000620264	Transcript	synonymous_variant	1579/2206	1314/1896	438/631	G	ggG/ggA		1		1	ANTXRL	HGNC	HGNC:27277	protein_coding	YES	CCDS60524.1	ENSP00000480615	A6NF34		UPI00015B6A6A	NM_001278688.2			15/17		Low_complexity_(Seg):seg,hmmpanther:PTHR16059:SF10,hmmpanther:PTHR16059																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	81	46311650	46311650	G	A	1	0	0	0	0	0	0	0	1	820	1161	41	3		3	ANTXRL	10	46311650	Silent	SNP	G	C3N-01489_TP	3210997	46311650	87485772	389	26935											
RBP3	0	.	GRCh38	chr10	47349265	47349265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgggcgagcggactgggGgaggggccctggacctccgg	4	5	22	10	3	0	0	0	0	0	0	1	4	1	3	3	9	1	0	3	9	0	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.781G>C	p.Gly261Arg	p.G261R	ENST00000584701	1/4	260	233	27	384	384	0	strelka-varscan-mutect	RBP3,missense_variant,p.Gly261Arg,ENST00000584701,NM_002900.2;	C	ENST00000584701	Transcript	missense_variant	895/4276	781/3744	261/1247	G/R	Gga/Cga		1		1	RBP3	HGNC	HGNC:9921	protein_coding	YES	CCDS73119.1	ENSP00000463151	P10745		UPI000012D87A	NM_002900.2	deleterious(0)		1/4		Gene3D:3.90.226.10,Pfam_domain:PF03572,hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF3,SMART_domains:SM00245,Superfamily_domains:SSF52096																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	47349265	47349265	G	C	1	0	0	0	0	1	0	0	0	13325	1233	43	4		4	RBP3	10	47349265	Missense_Mutation	SNP	G	C3N-01489_TP	1037615	47349265	86448157	390	26936											
FAM25C	0	.	GRCh38	chr10	47997700	47997700	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagtctccttggcaTgtcccaccacctccttcacc	5	12	4	20	0	3	0	1	0	2	0	8	0	6	0	7	1	0	1	7	1	0	2	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.113A>T	p.His38Leu	p.H38L	ENST00000617224	2/3	199	179	20	289	289	0	varscan-mutect	FAM25C,missense_variant,p.His38Leu,ENST00000617224,NM_001137548.2;	A	ENST00000617224	Transcript	missense_variant	139/319	113/270	38/89	H/L	cAt/cTt		1		-1	FAM25C	HGNC	HGNC:23586	protein_coding	YES	CCDS76299.1	ENSP00000485370	B3EWG5,B3EWG4		UPI00003666A7	NM_001137548.2	deleterious_low_confidence(0)		2/3		hmmpanther:PTHR34994,hmmpanther:PTHR34994:SF1,Pfam_domain:PF15825,Prints_domain:PR02048																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	47997700	47997700	T	A	1	0	0	0	0	1	0	0	0	5429	1464	51	4		4	FAM25C	10	47997700	Missense_Mutation	SNP	T	C3N-01489_TP	648435	47997700	85799722	391	26937											
C10orf71	0	.	GRCh38	chr10	49323158	49323158	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgctgaagtttccaacAcccatcagaacagctaccag	12	7	7	15	1	1	2	1	1	0	1	2	2	2	2	4	0	5	3	4	0	4	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.613A>C	p.Thr205Pro	p.T205P	ENST00000374144	3/3	215	180	35	310	310	0	strelka-varscan-mutect	C10orf71,missense_variant,p.Thr205Pro,ENST00000374144,NM_001135196.1;	C	ENST00000374144	Transcript	missense_variant	901/5230	613/4308	205/1435	T/P	Acc/Ccc		1		1	C10orf71	HGNC	HGNC:26973	protein_coding	YES	CCDS44387.1	ENSP00000363259	Q711Q0		UPI0000161572	NM_001135196.1	tolerated(0.18)		3/3		hmmpanther:PTHR33775																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	49323158	49323158	A	C	1	0	0	0	0	1	0	0	0	1769	159	6	5		5	C10orf71	10	49323158	Missense_Mutation	SNP	A	C3N-01489_TP	1325458	49323158	84474264	392	26938											
C10orf53	0	.	GRCh38	chr10	49708493	49708493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagacccaggacctgacttGtactgtattggcccagattg	11	10	10	10	0	0	3	0	1	0	2	0	4	0	4	3	2	1	2	3	2	3	5	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.350G>T	p.Cys117Phe	p.C117F	ENST00000374112	3/3	347	312	35	519	519	0	strelka-varscan-mutect	C10orf53,missense_variant,p.Cys117Phe,ENST00000374112,NM_182554.2;C10orf53,missense_variant,p.Cys117Phe,ENST00000535836,;	T	ENST00000374112	Transcript	missense_variant	362/2130	350/474	117/157	C/F	tGt/tTt		1		1	C10orf53	HGNC	HGNC:27421	protein_coding	YES	CCDS31202.1	ENSP00000363226	Q8N6V4		UPI00001406B3	NM_182554.2	deleterious_low_confidence(0)		3/3																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	81	49708493	49708493	G	T	1	0	0	0	0	1	0	0	0	1764	1377	48	2		2	C10orf53	10	49708493	Missense_Mutation	SNP	G	C3N-01489_TP	385335	49708493	84088929	393	26939											
OGDHL	0	.	GRCh38	chr10	49745437	49745437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtggatctgcttgtacatGagcggctgggtgaacatggg	7	11	16	7	1	1	2	0	2	1	0	1	3	1	3	0	4	4	3	0	4	2	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1536C>T	p.=	p.L512L	ENST00000374103	12/23	249	234	15	351	351	0	strelka-varscan-mutect	OGDHL,synonymous_variant,p.=,ENST00000374103,NM_018245.2;OGDHL,synonymous_variant,p.=,ENST00000419399,NM_001143996.1;OGDHL,synonymous_variant,p.=,ENST00000432695,NM_001143997.1;OGDHL,upstream_gene_variant,,ENST00000496884,;	A	ENST00000374103	Transcript	synonymous_variant	1622/3704	1536/3033	512/1010	L	ctC/ctT		1		-1	OGDHL	HGNC	HGNC:25590	protein_coding	YES	CCDS7234.1	ENSP00000363216	Q9ULD0		UPI000013D6A4	NM_018245.2			12/23		Gene3D:3.40.50.970,Pfam_domain:PF00676,PIRSF_domain:PIRSF000157,hmmpanther:PTHR23152,hmmpanther:PTHR23152:SF5,Superfamily_domains:SSF52518,TIGRFAM_domain:TIGR00239																	LOW	1	SNV	1			1										PASS		rs997298253	.												A	2	1	81	49745437	49745437	G	A	1	0	0	0	0	0	0	0	1	10914	1277	45	3		3	OGDHL	10	49745437	Silent	SNP	G	C3N-01489_TP	36944	49745437	84051985	394	26940											
DNA2	0	.	GRCh38	chr10	68450115	68450115	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgttttataccctcgatgTattttcacaccaactgtaac	10	17	4	10	1	1	0	1	0	0	0	2	1	1	0	2	0	3	3	2	0	5	8	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.852A>G	p.Ile284Met	p.I284M	ENST00000358410	6/21	242	220	22	314	314	0	strelka-varscan-mutect	DNA2,missense_variant,p.Ile284Met,ENST00000358410,NM_001080449.2;DNA2,missense_variant,p.Ile284Met,ENST00000551118,;DNA2,missense_variant,p.Ile284Met,ENST00000399180,;DNA2,missense_variant,p.Ile284Met,ENST00000399179,;	C	ENST00000358410	Transcript	missense_variant	903/4208	852/3183	284/1060	I/M	atA/atG		1		-1	DNA2	HGNC	HGNC:2939	protein_coding	YES	CCDS44415.2	ENSP00000351185	P51530		UPI00001C1EDB	NM_001080449.2	tolerated(0.2)		6/21		hmmpanther:PTHR10887:SF14,hmmpanther:PTHR10887																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	68450115	68450115	T	C	1	0	0	0	0	1	0	0	0	4405	1628	57	5		5	DNA2	10	68450115	Missense_Mutation	SNP	T	C3N-01489_TP	18704678	68450115	65347307	395	26941											
KCNMA1	0	.	GRCh38	chr10	77637450	77637450	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgagcgcatccatctTgggctcgtggaccgaggacg	8	8	15	10	4	1	2	0	2	1	0	3	6	2	4	2	3	1	2	2	3	0	1	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.193A>T	p.Lys65Ter	p.K65*	ENST00000286628	1/28	325	295	30	446	446	0	strelka-varscan-mutect	KCNMA1,stop_gained,p.Lys65Ter,ENST00000286627,NM_002247.3;KCNMA1,stop_gained,p.Lys65Ter,ENST00000286628,NM_001161352.1;KCNMA1,stop_gained,p.Lys65Ter,ENST00000372443,;KCNMA1,stop_gained,p.Lys65Ter,ENST00000372440,NM_001014797.2;KCNMA1,stop_gained,p.Lys65Ter,ENST00000404771,;KCNMA1,stop_gained,p.Lys39Ter,ENST00000457953,;KCNMA1,stop_gained,p.Lys65Ter,ENST00000626620,NM_001161353.1;KCNMA1,stop_gained,p.Lys39Ter,ENST00000372421,;KCNMA1,stop_gained,p.Lys2Ter,ENST00000372408,;KCNMA1,stop_gained,p.Lys16Ter,ENST00000372403,;KCNMA1,stop_gained,p.Lys65Ter,ENST00000618048,NM_001271520.1;KCNMA1,stop_gained,p.Lys65Ter,ENST00000480683,NM_001271522.1;KCNMA1,stop_gained,p.Lys65Ter,ENST00000481070,NM_001271521.1;KCNMA1,upstream_gene_variant,,ENST00000372437,;	A	ENST00000286628	Transcript	stop_gained	193/6100	193/3711	65/1236	K/*	Aag/Tag		1		-1	KCNMA1	HGNC	HGNC:6284	protein_coding	YES	CCDS60569.1	ENSP00000286628	Q12791		UPI00003519E7	NM_001161352.1			1/28																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	81	77637450	77637450	T	A	1	0	0	0	0	0	1	0	0	7990	1821	63	4		4	KCNMA1	10	77637450	Nonsense_Mutation	SNP	T	C3N-01489_TP	9187335	77637450	56159972	396	26942											
DLG5	0	.	GRCh38	chr10	77811192	77811192	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggggtggtggtgccactGccctggagagtggagtgggt	4	9	20	8	1	0	1	0	0	0	1	1	3	1	2	3	7	2	0	3	7	0	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.4365C>T	p.=	p.G1455G	ENST00000372391	23/32	159	146	13	228	228	0	strelka-varscan-mutect	DLG5,synonymous_variant,p.=,ENST00000372391,NM_004747.3;DLG5,synonymous_variant,p.=,ENST00000424842,;DLG5,non_coding_transcript_exon_variant,,ENST00000459739,;DLG5,non_coding_transcript_exon_variant,,ENST00000489547,;DLG5,upstream_gene_variant,,ENST00000484525,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;DLG5,non_coding_transcript_exon_variant,,ENST00000463362,;DLG5,downstream_gene_variant,,ENST00000476354,;	A	ENST00000372391	Transcript	synonymous_variant	4371/7415	4365/5760	1455/1919	G	ggC/ggT		1		-1	DLG5	HGNC	HGNC:2904	protein_coding	YES	CCDS7353.2	ENSP00000361467	Q8TDM6		UPI0000470041	NM_004747.3			23/32		hmmpanther:PTHR13865:SF31,hmmpanther:PTHR13865,Pfam_domain:PF16610																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	77811192	77811192	G	A	1	0	0	0	0	0	0	0	1	4365	1306	46	3		3	DLG5	10	77811192	Silent	SNP	G	C3N-01489_TP	173742	77811192	55986230	397	26943											
SFTPA2	0	.	GRCh38	chr10	79558076	79558076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtctgcaggatttgatGtctgaagtcgtggagtgtgg	6	14	15	6	1	2	2	0	2	2	0	3	4	2	4	1	3	1	1	1	3	1	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.346C>T	p.His116Tyr	p.H116Y	ENST00000372325	5/6	278	255	23	382	381	1	varscan-mutect	SFTPA2,missense_variant,p.His116Tyr,ENST00000372325,NM_001320813.1,NM_001320814.1,NM_001098668.2;SFTPA2,missense_variant,p.His116Tyr,ENST00000372327,;SFTPA2,missense_variant,p.His116Tyr,ENST00000417041,;SFTPA2,downstream_gene_variant,,ENST00000492049,;	A	ENST00000372325	Transcript	missense_variant	431/2189	346/747	116/248	H/Y	Cat/Tat		1		-1	SFTPA2	HGNC	HGNC:10799	protein_coding	YES	CCDS41540.1	ENSP00000361400	Q8IWL1		UPI000013CAFF	NM_001320813.1,NM_001320814.1,NM_001098668.2	tolerated(0.05)		5/6		hmmpanther:PTHR24024,hmmpanther:PTHR24024:SF21,Gene3D:3.10.100.10,Superfamily_domains:SSF57944																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	79558076	79558076	G	A	1	0	0	0	0	1	0	0	0	14450	1377	48	3		3	SFTPA2	10	79558076	Missense_Mutation	SNP	G	C3N-01489_TP	1746884	79558076	54239346	398	26944											
PLAC9	0	.	GRCh38	chr10	80144334	80144334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagccccgctcccgacCttctcggaggtgagcagtgc	5	8	11	17	3	2	1	1	1	1	0	4	3	3	2	5	2	3	2	5	2	0	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.274C>A	p.Leu92Ile	p.L92I	ENST00000372263	3/4	98	92	6	136	136	0	strelka-varscan-mutect	PLAC9,missense_variant,p.Leu92Ile,ENST00000372263,NM_001012973.1;PLAC9,missense_variant,p.Leu50Ile,ENST00000372270,;PLAC9,intron_variant,,ENST00000372267,;PLAC9,non_coding_transcript_exon_variant,,ENST00000465660,;	A	ENST00000372263	Transcript	missense_variant	316/785	274/294	92/97	L/I	Ctt/Att		1		1	PLAC9	HGNC	HGNC:19255	protein_coding	YES	CCDS31232.1	ENSP00000361337	Q5JTB6		UPI0000161743	NM_001012973.1	tolerated(0.44)		3/4		Pfam_domain:PF15205,hmmpanther:PTHR37355																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	80144334	80144334	C	A	1	0	0	0	0	1	0	0	0	12111	681	24	2		2	PLAC9	10	80144334	Missense_Mutation	SNP	C	C3N-01489_TP	586258	80144334	53653088	399	26945											
MYOF	0	.	GRCh38	chr10	93351434	93351434	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccctcagaatcagctcTgcagttacaagaacatcccc	11	9	6	15	0	3	2	2	0	1	2	4	2	4	2	4	0	5	3	4	0	4	2	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.3801A>C	p.=	p.A1267A	ENST00000359263	34/54	112	99	13	197	197	0	strelka-mutect	MYOF,synonymous_variant,p.=,ENST00000359263,NM_013451.3;MYOF,synonymous_variant,p.=,ENST00000358334,NM_133337.2;MYOF,synonymous_variant,p.=,ENST00000463743,;	G	ENST00000359263	Transcript	synonymous_variant	3801/6719	3801/6186	1267/2061	A	gcA/gcC		1		-1	MYOF	HGNC	HGNC:3656	protein_coding	YES	CCDS41551.1	ENSP00000352208	Q9NZM1		UPI000012FBA1	NM_013451.3			34/54		Gene3D:2.60.40.150,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF40,Superfamily_domains:SSF49562																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	81	93351434	93351434	T	G	1	0	0	0	0	0	0	0	1	10090	1567	55	5		5	MYOF	10	93351434	Silent	SNP	T	C3N-01489_TP	13207100	93351434	40445988	400	26946											
COL17A1	0	.	GRCh38	chr10	104047774	104047774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagaaggtcctggtgggCcacggattccaggcatccca	8	7	12	14	1	0	1	0	0	0	1	4	2	4	2	5	5	0	1	5	5	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2300G>T	p.Gly767Val	p.G767V	ENST00000353479	31/56	436	396	40	657	656	1	strelka-varscan-mutect	COL17A1,missense_variant,p.Gly767Val,ENST00000353479,NM_000494.3;COL17A1,missense_variant,p.Gly767Val,ENST00000369733,;COL17A1,downstream_gene_variant,,ENST00000401264,;	A	ENST00000353479	Transcript	missense_variant	2591/5734	2300/4494	767/1497	G/V	gGc/gTc		1		-1	COL17A1	HGNC	HGNC:2194	protein_coding	YES	CCDS7554.1	ENSP00000340937	Q9UMD9		UPI000006DB58	NM_000494.3	deleterious(0)		31/56		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	104047774	104047774	C	A	1	0	0	0	0	1	0	0	0	3462	739	26	2		2	COL17A1	10	104047774	Missense_Mutation	SNP	C	C3N-01489_TP	10696340	104047774	29749648	401	26947											
SORCS3	0	.	GRCh38	chr10	104641371	104641371	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcaggcaggccgggggCgccgcttgtccggacggggc	3	3	19	16	6	0	0	0	0	0	0	1	1	1	1	5	7	0	3	5	7	0	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.44C>G	p.Ala15Gly	p.A15G	ENST00000369701	1/27	76	68	8	137	137	0	strelka-varscan-mutect	SORCS3,missense_variant,p.Ala15Gly,ENST00000369701,NM_014978.2;SORCS3,missense_variant,p.Ala15Gly,ENST00000369699,;	G	ENST00000369701	Transcript	missense_variant	271/5757	44/3669	15/1222	A/G	gCg/gGg		1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2	deleterious_low_confidence(0.04)		1/27		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs1250863365	.												G	3	3	81	104641371	104641371	C	G	1	0	0	0	0	1	0	0	0	15254	768	27	4		4	SORCS3	10	104641371	Missense_Mutation	SNP	C	C3N-01489_TP	593597	104641371	29156051	402	26948											
SORCS3	0	.	GRCh38	chr10	104641551	104641551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggaggagctggcgtcggCgcggagagccgccgtgctgg	4	4	21	12	7	0	1	0	0	0	1	1	4	0	3	3	6	3	2	3	6	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.224C>A	p.Ala75Glu	p.A75E	ENST00000369701	1/27	120	107	13	183	183	0	strelka-varscan-mutect	SORCS3,missense_variant,p.Ala75Glu,ENST00000369701,NM_014978.2;SORCS3,missense_variant,p.Ala75Glu,ENST00000369699,;	A	ENST00000369701	Transcript	missense_variant	451/5757	224/3669	75/1222	A/E	gCg/gAg		1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2	deleterious_low_confidence(0.02)		1/27		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	104641551	104641551	C	A	1	0	0	0	0	1	0	0	0	15254	768	27	1		1	SORCS3	10	104641551	Missense_Mutation	SNP	C	C3N-01489_TP	180	104641551	29155871	403	26949											
SORCS3	0	.	GRCh38	chr10	105245609	105245609	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaccgacaccatcacagTccaggtggctgctgggaatg	11	6	13	11	1	1	0	1	0	0	0	2	3	2	2	3	4	2	2	3	4	2	0	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.2936T>A	p.Val979Asp	p.V979D	ENST00000369701	21/27	159	149	10	197	197	0	strelka-varscan-mutect	SORCS3,missense_variant,p.Val979Asp,ENST00000369701,NM_014978.2;SORCS3,missense_variant,p.Val979Asp,ENST00000369699,;	A	ENST00000369701	Transcript	missense_variant	3163/5757	2936/3669	979/1222	V/D	gTc/gAc		1		1	SORCS3	HGNC	HGNC:16699	protein_coding	YES	CCDS7558.1	ENSP00000358715	Q9UPU3		UPI0000135CE1	NM_014978.2	deleterious(0)		21/27		Gene3D:2.60.40.670,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,Superfamily_domains:SSF49299																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	105245609	105245609	T	A	1	0	0	0	0	1	0	0	0	15254	1667	58	4		4	SORCS3	10	105245609	Missense_Mutation	SNP	T	C3N-01489_TP	604058	105245609	28551813	404	26950											
SORCS1	0	.	GRCh38	chr10	106709263	106709263	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaacaatcaaagagtctGggtcaatgtagcctggaaaa	15	8	10	8	0	3	2	2	1	1	1	3	3	3	3	2	2	2	1	2	2	7	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1103C>G	p.Pro368Arg	p.P368R	ENST00000263054	7/26	220	205	15	309	309	0	strelka-varscan-mutect	SORCS1,missense_variant,p.Pro368Arg,ENST00000263054,NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1;SORCS1,missense_variant,p.Pro126Arg,ENST00000612154,;SORCS1,missense_variant,p.Pro126Arg,ENST00000622431,;SORCS1,missense_variant,p.Pro126Arg,ENST00000344440,;	C	ENST00000263054	Transcript	missense_variant	1111/7272	1103/3507	368/1168	P/R	cCa/cGa		1		-1	SORCS1	HGNC	HGNC:16697	protein_coding	YES	CCDS7559.1	ENSP00000263054	Q8WY21		UPI00001AE866	NM_052918.4,NM_001206570.1,NM_001013031.2,NM_001206572.1,NM_001206571.1,NM_001206569.1	tolerated(0.79)		7/26		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF8,Pfam_domain:PF15902,SMART_domains:SM00602																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	106709263	106709263	G	C	1	0	0	0	0	1	0	0	0	15252	1348	47	4		4	SORCS1	10	106709263	Missense_Mutation	SNP	G	C3N-01489_TP	1463654	106709263	27088159	405	26951											
RBM20	0	.	GRCh38	chr10	110812415	110812415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgactggggcaatggccGggactcctgggagcactctc	6	7	16	12	1	1	1	0	1	1	0	3	3	2	3	2	6	1	3	2	6	1	0	rs138926584		C3N-01489_TP	C3N-01489_NB	G	G																c.2018G>T	p.Arg673Leu	p.R673L	ENST00000369519	9/14	259	236	23	298	297	1	strelka-varscan-mutect	RBM20,missense_variant,p.Arg673Leu,ENST00000369519,NM_001134363.2;	T	ENST00000369519	Transcript	missense_variant	2076/7233	2018/3684	673/1227	R/L	cGg/cTg	rs138926584,COSM3978082	1		1	RBM20	HGNC	HGNC:27424	protein_coding	YES	CCDS44477.1	ENSP00000358532	Q5T481		UPI00044338F1	NM_001134363.2	deleterious(0)		9/14													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs138926584	.												T	3	4	81	110812415	110812415	G	T	1	0	0	0	0	1	0	0	0	13287	1116	39	1		1	RBM20	10	110812415	Missense_Mutation	SNP	G	C3N-01489_TP	4103152	110812415	22985007	406	26952											
GFRA1	0	.	GRCh38	chr10	116125540	116125540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatccaggcagttgttccCtttgggaatgtgctccactg	6	13	11	11	0	0	0	0	0	0	0	3	1	3	1	3	2	2	5	3	2	1	3	rs758642456		C3N-01489_TP	C3N-01489_NB	C	C																c.451G>T	p.Gly151Trp	p.G151W	ENST00000355422	6/11	177	162	15	353	353	0	strelka-varscan-mutect	GFRA1,missense_variant,p.Gly146Trp,ENST00000439649,NM_001145453.1;GFRA1,missense_variant,p.Gly146Trp,ENST00000369236,NM_145793.3;GFRA1,missense_variant,p.Gly151Trp,ENST00000355422,NM_005264.4;GFRA1,missense_variant,p.Gly151Trp,ENST00000369234,;	A	ENST00000355422	Transcript	missense_variant	1002/2583	451/1398	151/465	G/W	Ggg/Tgg	rs758642456	1		-1	GFRA1	HGNC	HGNC:4243	protein_coding	YES	CCDS44481.1	ENSP00000347591	P56159		UPI000012B3A8	NM_005264.4	deleterious(0.01)		6/11		hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF3,PIRSF_domain:PIRSF038071																	MODERATE	1	SNV	5			1										PASS		rs758642456	.												A	3	1	81	116125540	116125540	C	A	1	0	0	0	0	1	0	0	0	6221	681	24	2		2	GFRA1	10	116125540	Missense_Mutation	SNP	C	C3N-01489_TP	5313125	116125540	17671882	407	26953											
EMX2	0	.	GRCh38	chr10	117543436	117543436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccactcggccgccgccGccgccgccggtaggggcgtc	2	5	15	19	8	0	0	0	0	0	0	3	0	1	0	7	4	0	2	7	4	1	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.169G>T	p.Ala57Ser	p.A57S	ENST00000553456	1/3	264	235	29	377	377	0	strelka-varscan-mutect	EMX2,missense_variant,p.Ala57Ser,ENST00000553456,NM_004098.3;EMX2,missense_variant,p.Ala57Ser,ENST00000442245,NM_001165924.1;EMX2,upstream_gene_variant,,ENST00000616794,;EMX2OS,intron_variant,,ENST00000551288,;EMX2OS,upstream_gene_variant,,ENST00000440007,;EMX2OS,upstream_gene_variant,,ENST00000450314,;EMX2,upstream_gene_variant,,ENST00000546446,;	T	ENST00000553456	Transcript	missense_variant	993/2897	169/759	57/252	A/S	Gcc/Tcc		1		1	EMX2	HGNC	HGNC:3341	protein_coding	YES	CCDS7601.1	ENSP00000450962	Q04743		UPI000004CC07	NM_004098.3	tolerated(0.33)		1/3		hmmpanther:PTHR24339,hmmpanther:PTHR24339:SF25,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	117543436	117543436	G	T	1	0	0	0	0	1	0	0	0	4950	1087	38	1		1	EMX2	10	117543436	Missense_Mutation	SNP	G	C3N-01489_TP	1417896	117543436	16253986	408	26954											
CFAP46	0	.	GRCh38	chr10	132808655	132808655	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaccaagggctggggagagGcccaggaaggggagagcgag	11	1	21	8	1	0	2	0	0	0	2	0	6	0	3	2	7	1	2	2	7	2	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.7914C>A	p.=	p.G2638G	ENST00000368586	58/58	102	91	11	139	138	1	strelka-varscan-mutect	CFAP46,synonymous_variant,p.=,ENST00000368586,NM_001200049.2;	T	ENST00000368586	Transcript	synonymous_variant	8015/8278	7914/8148	2638/2715	G	ggC/ggA		1		-1	CFAP46	HGNC	HGNC:25247	protein_coding	YES	CCDS58101.1	ENSP00000357575	Q8IYW2		UPI0001B79116	NM_001200049.2			58/58		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	81	132808655	132808655	G	T	1	0	0	0	0	0	0	0	1	3021	1190	42	2		2	CFAP46	10	132808655	Silent	SNP	G	C3N-01489_TP	15265219	132808655	988767	409	26955											
CFAP46	0	.	GRCh38	chr10	132847244	132847244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgccctggaggccggcggGtccctgctggactttgtggc	2	9	17	13	2	0	0	0	0	0	0	1	2	1	2	3	6	2	2	3	6	0	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.6030C>A	p.Asp2010Glu	p.D2010E	ENST00000368586	42/58	117	106	11	168	168	0	strelka-varscan-mutect	CFAP46,missense_variant,p.Asp2010Glu,ENST00000368586,NM_001200049.2;	T	ENST00000368586	Transcript	missense_variant	6131/8278	6030/8148	2010/2715	D/E	gaC/gaA		1		-1	CFAP46	HGNC	HGNC:25247	protein_coding	YES	CCDS58101.1	ENSP00000357575	Q8IYW2		UPI0001B79116	NM_001200049.2	tolerated(0.23)		42/58		hmmpanther:PTHR15977,hmmpanther:PTHR15977:SF15																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	132847244	132847244	G	T	1	0	0	0	0	1	0	0	0	3021	1252	44	2		2	CFAP46	10	132847244	Missense_Mutation	SNP	G	C3N-01489_TP	38589	132847244	950178	410	26956											
B4GALNT4	0	.	GRCh38	chr11	375892	375892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacgtgctggagccctGcgcctacgcccccacctacg	7	5	12	17	4	0	1	0	0	0	1	0	3	0	2	5	2	6	1	5	2	3	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1031G>T	p.Cys344Phe	p.C344F	ENST00000329962	11/20	216	193	23	278	278	0	strelka-varscan-mutect	B4GALNT4,missense_variant,p.Cys344Phe,ENST00000329962,NM_178537.4;B4GALNT4,non_coding_transcript_exon_variant,,ENST00000524443,;B4GALNT4,upstream_gene_variant,,ENST00000534778,;B4GALNT4,upstream_gene_variant,,ENST00000526584,;B4GALNT4,downstream_gene_variant,,ENST00000530717,;	T	ENST00000329962	Transcript	missense_variant	1031/3444	1031/3120	344/1039	C/F	tGc/tTc		1		1	B4GALNT4	HGNC	HGNC:26315	protein_coding	YES	CCDS7694.1	ENSP00000328277	Q76KP1		UPI00002326B6	NM_178537.4	deleterious(0.03)		11/20		hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	375892	375892	G	T	1	0	0	0	0	1	0	0	0	1425	1319	46	2		2	B4GALNT4	11	375892	Missense_Mutation	SNP	G	C3N-01489_TP		375892	134710730	411	26957											
MUC6	0	.	GRCh38	chr11	1027992	1027992	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggtgcagggttcactgtGgcgtggcacctctcgaacac	8	8	14	11	2	2	0	1	0	1	0	3	1	2	0	1	4	2	3	1	4	2	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1821C>T	p.=	p.A607A	ENST00000421673	15/33	135	125	10	208	208	0	strelka-varscan-mutect	MUC6,synonymous_variant,p.=,ENST00000421673,NM_005961.2;MUC6,downstream_gene_variant,,ENST00000525923,;	A	ENST00000421673	Transcript	synonymous_variant	1872/8006	1821/7320	607/2439	A	gcC/gcT		1		-1	MUC6	HGNC	HGNC:7517	protein_coding	YES	CCDS44513.1	ENSP00000406861	Q6W4X9		UPI0000251DBE	NM_005961.2			15/33		PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF264,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	81	1027992	1027992	G	A	1	0	0	0	0	0	0	0	1	9980	1335	47	3		3	MUC6	11	1027992	Silent	SNP	G	C3N-01489_TP	652100	1027992	134058630	412	26958											
TNNT3	0	.	GRCh38	chr11	1934857	1934857	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggagctctgggagaccCtgcaccagctggagattgac	10	6	13	12	0	1	3	0	1	1	2	1	6	1	4	3	3	3	3	3	3	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.619C>A	p.Leu207Met	p.L207M	ENST00000278317	14/16	432	372	60	655	655	0	strelka-varscan-mutect	TNNT3,missense_variant,p.Leu199Met,ENST00000381558,NM_001042782.2,NM_001297646.1;TNNT3,missense_variant,p.Leu207Met,ENST00000278317,NM_006757.3;TNNT3,missense_variant,p.Leu205Met,ENST00000381589,NM_001042781.2;TNNT3,missense_variant,p.Leu199Met,ENST00000381579,NM_001042780.2;TNNT3,missense_variant,p.Leu193Met,ENST00000381557,;TNNT3,missense_variant,p.Leu210Met,ENST00000381563,;TNNT3,missense_variant,p.Leu218Met,ENST00000397301,;TNNT3,missense_variant,p.Leu194Met,ENST00000344578,;TNNT3,missense_variant,p.Leu188Met,ENST00000397304,;TNNT3,missense_variant,p.Leu188Met,ENST00000446240,;TNNT3,missense_variant,p.Leu188Met,ENST00000453458,;TNNT3,non_coding_transcript_exon_variant,,ENST00000493234,;TNNT3,downstream_gene_variant,,ENST00000492075,;TNNT3,upstream_gene_variant,,ENST00000473100,;	A	ENST00000278317	Transcript	missense_variant	838/1210	619/777	207/258	L/M	Ctg/Atg		1		1	TNNT3	HGNC	HGNC:11950	protein_coding	YES	CCDS7727.1	ENSP00000278317	P45378		UPI000013DB6C	NM_006757.3	tolerated(0.32)		14/16		Gene3D:1.20.5.350,hmmpanther:PTHR11521,hmmpanther:PTHR11521:SF4,Superfamily_domains:SSF90250																	MODERATE	1	SNV	5			1										PASS		rs985064835	.												A	3	1	81	1934857	1934857	C	A	1	0	0	0	0	1	0	0	0	16805	680	24	2		2	TNNT3	11	1934857	Missense_Mutation	SNP	C	C3N-01489_TP	906865	1934857	133151765	413	26959											
OR51E1	0	.	GRCh38	chr11	4652951	4652951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacagtacttacgttgcCtcgtgtcaccaaaattggtg	9	12	9	11	2	1	0	1	0	0	0	2	0	1	0	3	1	4	2	3	1	4	4	rs565904107		C3N-01489_TP	C3N-01489_NB	C	C																c.425C>A	p.Pro142His	p.P142H	ENST00000396952	2/2	41	29	12	94	94	0	strelka-varscan-mutect	OR51E1,missense_variant,p.Pro142His,ENST00000396952,NM_152430.3;OR51E1,intron_variant,,ENST00000530215,;	A	ENST00000396952	Transcript	missense_variant	1075/3612	425/957	142/318	P/H	cCt/cAt	rs565904107,COSM4494054	1		1	OR51E1	HGNC	HGNC:15194	protein_coding	YES	CCDS31358.2	ENSP00000380155	Q8TCB6	A0A126GVF8	UPI000003ACE2	NM_152430.3	deleterious(0.04)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF167,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245											0,1						MODERATE	1	SNV			0,1	1										PASS		rs565904107	.												A	3	1	81	4652951	4652951	C	A	1	0	0	0	0	1	0	0	0	11168	681	24	2		2	OR51E1	11	4652951	Missense_Mutation	SNP	C	C3N-01489_TP	2718094	4652951	130433671	414	26960											
OR51E2	0	.	GRCh38	chr11	4682101	4682101	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgtccacgcccatgaccAgcagaatggcagtaagacca	13	6	9	13	2	0	3	0	1	0	2	1	3	1	3	4	1	2	3	4	1	3	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.611T>A	p.Leu204Gln	p.L204Q	ENST00000396950	2/2	294	245	49	508	508	0	strelka-varscan-mutect	OR51E2,missense_variant,p.Leu204Gln,ENST00000396950,NM_030774.3;OR51E2,downstream_gene_variant,,ENST00000532598,;	T	ENST00000396950	Transcript	missense_variant	851/2781	611/963	204/320	L/Q	cTg/cAg		1		-1	OR51E2	HGNC	HGNC:15195	protein_coding	YES	CCDS7751.1	ENSP00000380153	Q9H255	A0A126GVK0	UPI000003B49B	NM_030774.3	tolerated(0.13)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF92,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	81	4682101	4682101	A	T	1	0	0	0	0	1	0	0	0	11169	188	7	4		4	OR51E2	11	4682101	Missense_Mutation	SNP	A	C3N-01489_TP	29150	4682101	130404521	415	26961											
OR51S1	0	.	GRCh38	chr11	4848665	4848665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcaataagaatgggttaGgacctgtgggaggcagtagg	13	7	16	5	0	0	1	0	0	0	1	0	3	0	3	1	5	1	4	1	5	6	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.544C>A	p.Leu182Ile	p.L182I	ENST00000322101	1/1	82	69	13	126	125	1	strelka-varscan-mutect	OR51S1,missense_variant,p.Leu182Ile,ENST00000322101,NM_001004758.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	T	ENST00000322101	Transcript	missense_variant	544/972	544/972	182/323	L/I	Cta/Ata		1		-1	OR51S1	HGNC	HGNC:15204	protein_coding	YES	CCDS31362.1	ENSP00000322754	Q8NGJ8	A0A126GWN3	UPI0000041C33	NM_001004758.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF73,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												T	3	4	81	4848665	4848665	G	T	1	0	0	0	0	1	0	0	0	11179	991	35	2		2	OR51S1	11	4848665	Missense_Mutation	SNP	G	C3N-01489_TP	166564	4848665	130237957	416	26962											
OR51M1	0	.	GRCh38	chr11	5389522	5389522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaaacactggattttcatcCcctttttctttatgtacatg	9	18	4	10	0	3	0	2	0	1	0	4	1	4	1	2	1	2	1	2	1	3	7			C3N-01489_TP	C3N-01489_NB	C	C																c.124C>A	p.Pro42Thr	p.P42T	ENST00000328611	1/1	318	274	44	518	518	0	strelka-varscan-mutect	OR51M1,missense_variant,p.Pro42Thr,ENST00000328611,NM_001004756.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	A	ENST00000328611	Transcript	missense_variant	124/981	124/981	42/326	P/T	Ccc/Acc	COSM3448665	1		1	OR51M1	HGNC	HGNC:14847	protein_coding	YES	CCDS53596.1	ENSP00000333196	Q9H341		UPI000066D8EB	NM_001004756.2	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR26450:SF44,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE		SNV			1	1										PASS		.	.												A	3	1	81	5389522	5389522	C	A	1	0	0	0	0	1	0	0	0	11177	623	22	2		2	OR51M1	11	5389522	Missense_Mutation	SNP	C	C3N-01489_TP	540857	5389522	129697100	417	26963											
OR56B4	0	.	GRCh38	chr11	6107836	6107836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagatttcccagttcatcCtgatgggattaccaggcatt	9	13	8	11	0	1	2	1	1	0	1	4	3	4	3	4	2	1	2	4	2	1	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.58C>G	p.Leu20Val	p.L20V	ENST00000316529	1/1	72	58	14	142	142	0	strelka-varscan-mutect	OR56B4,missense_variant,p.Leu20Val,ENST00000316529,NM_001005181.2;RP11-290F24.3,downstream_gene_variant,,ENST00000529961,;	G	ENST00000316529	Transcript	missense_variant	153/1152	58/960	20/319	L/V	Ctg/Gtg		1		1	OR56B4	HGNC	HGNC:15248	protein_coding	YES	CCDS31406.1	ENSP00000321196	Q8NH76		UPI000004B214	NM_001005181.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF142,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												G	3	3	81	6107836	6107836	C	G	1	0	0	0	0	1	0	0	0	11210	680	24	4		4	OR56B4	11	6107836	Missense_Mutation	SNP	C	C3N-01489_TP	718314	6107836	128978786	418	26964											
ARFIP2	0	.	GRCh38	chr11	6479268	6479268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggccagaccctaaaggatCaagttctctgacaccagcct	11	7	9	14	1	2	2	1	1	1	1	3	3	2	3	4	2	1	1	4	2	3	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.286G>A	p.Asp96Asn	p.D96N	ENST00000614314	4/8	278	236	42	417	417	0	strelka-varscan-mutect	ARFIP2,missense_variant,p.Asp96Asn,ENST00000614314,NM_001242854.1;ARFIP2,intron_variant,,ENST00000254584,NM_012402.3;ARFIP2,intron_variant,,ENST00000396777,;ARFIP2,intron_variant,,ENST00000423813,NM_001242855.1;ARFIP2,intron_variant,,ENST00000445086,NM_001242856.1;ARFIP2,intron_variant,,ENST00000525235,;TRIM3,upstream_gene_variant,,ENST00000525074,NM_001248006.1;TIMM10B,upstream_gene_variant,,ENST00000254616,NM_012192.3;TIMM10B,upstream_gene_variant,,ENST00000530751,;TRIM3,upstream_gene_variant,,ENST00000529529,;ARFIP2,intron_variant,,ENST00000531037,;ARFIP2,downstream_gene_variant,,ENST00000530410,;ARFIP2,downstream_gene_variant,,ENST00000529847,;TIMM10B,upstream_gene_variant,,ENST00000533379,;TIMM10B,upstream_gene_variant,,ENST00000528908,;ARFIP2,downstream_gene_variant,,ENST00000525329,;TIMM10B,upstream_gene_variant,,ENST00000531462,;	T	ENST00000614314	Transcript	missense_variant	577/3846	286/1125	96/374	D/N	Gat/Aat		1		-1	ARFIP2	HGNC	HGNC:17160	protein_coding	YES	CCDS73250.1	ENSP00000484121		A0A087X1E4	UPI0002176A53	NM_001242854.1	tolerated(0.5)		4/8																			MODERATE		SNV	2			1										PASS		.	.												T	3	4	81	6479268	6479268	C	T	1	0	0	0	0	1	0	0	0	979	826	29	3		3	ARFIP2	11	6479268	Missense_Mutation	SNP	C	C3N-01489_TP	371432	6479268	128607354	419	26965											
WEE1	0	.	GRCh38	chr11	9574349	9574349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcctgggtagctctttctCgccggtgcgctgcggcggcc	1	11	14	15	5	2	0	0	0	2	0	4	0	3	0	3	4	3	3	3	4	1	3	rs866472787		C3N-01489_TP	C3N-01489_NB	C	C																c.416C>T	p.Ser139Leu	p.S139L	ENST00000450114	1/11	45	41	4	39	39	0	strelka-mutect	WEE1,missense_variant,p.Ser139Leu,ENST00000450114,NM_003390.3;WEE1,upstream_gene_variant,,ENST00000299613,NM_001143976.1;WEE1,upstream_gene_variant,,ENST00000524612,;snoU13,upstream_gene_variant,,ENST00000458785,;WEE1,upstream_gene_variant,,ENST00000524549,;	T	ENST00000450114	Transcript	missense_variant	669/2799	416/1941	139/646	S/L	tCg/tTg	rs866472787	1		1	WEE1	HGNC	HGNC:12761	protein_coding	YES	CCDS7800.1	ENSP00000402084	P30291		UPI0000138EF4	NM_003390.3	deleterious(0.01)		1/11		hmmpanther:PTHR11042:SF72,hmmpanther:PTHR11042,PIRSF_domain:PIRSF037281																	MODERATE	1	SNV	1			1										PASS		rs866472787	.												T	3	4	81	9574349	9574349	C	T	1	0	0	0	0	1	0	0	0	17901	893	31	1		1	WEE1	11	9574349	Missense_Mutation	SNP	C	C3N-01489_TP	3095081	9574349	125512273	420	26966											
USP47	0	.	GRCh38	chr11	11902787	11902787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaaaggctttttgttttGttacaaaccagcaaaaagag	14	13	7	7	0	1	1	1	0	0	1	1	1	1	1	1	1	3	4	1	1	5	6	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.666G>T	p.Leu222Phe	p.L222F	ENST00000527733	6/28	112	106	6	162	161	1	varscan-mutect	USP47,missense_variant,p.Leu154Phe,ENST00000339865,NM_017944.3;USP47,missense_variant,p.Leu242Phe,ENST00000399455,;USP47,missense_variant,p.Leu222Phe,ENST00000527733,NM_001282659.1;	T	ENST00000527733	Transcript	missense_variant	877/4525	666/4068	222/1355	L/F	ttG/ttT		1		1	USP47	HGNC	HGNC:20076	protein_coding	YES	CCDS60725.1	ENSP00000433146	Q96K76		UPI00004DC7F5	NM_001282659.1	tolerated(0.15)		6/28		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	11902787	11902787	G	T	1	0	0	0	0	1	0	0	0	17621	1368	48	2		2	USP47	11	11902787	Missense_Mutation	SNP	G	C3N-01489_TP	2328438	11902787	123183835	421	26967											
OTOG	0	.	GRCh38	chr11	17612281	17612281	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtgggatcctgggcctCgccgtgcgggtgggtgggga	2	8	21	10	4	0	0	0	0	0	0	2	2	1	2	3	6	1	1	3	6	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.6279C>A	p.=	p.L2093L	ENST00000399391	36/55	86	80	6	149	149	0	strelka-mutect	OTOG,synonymous_variant,p.=,ENST00000399397,NM_001292063.1;OTOG,synonymous_variant,p.=,ENST00000399391,NM_001277269.1;OTOG,synonymous_variant,p.=,ENST00000342528,;	A	ENST00000399391	Transcript	synonymous_variant	6279/8778	6279/8778	2093/2925	L	ctC/ctA		1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1			36/55		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228																	LOW	1	SNV	5			1										PASS		rs1016887523	.												A	2	1	81	17612281	17612281	C	A	1	0	0	0	0	0	0	0	1	11370	871	31	1		1	OTOG	11	17612281	Silent	SNP	C	C3N-01489_TP	5709494	17612281	117474341	422	26968											
LIN7C	0	.	GRCh38	chr11	27499403	27499403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccacgtttgaggccccCatgtctatcagcaattccac	9	11	6	15	1	3	1	1	1	2	0	5	1	4	1	4	1	1	2	4	1	2	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.394G>A	p.Gly132Arg	p.G132R	ENST00000278193	4/5	212	183	29	388	388	0	strelka-mutect	LIN7C,missense_variant,p.Gly132Arg,ENST00000278193,NM_018362.3;LIN7C,missense_variant,p.Gly108Arg,ENST00000524596,;	T	ENST00000278193	Transcript	missense_variant	415/4688	394/594	132/197	G/R	Ggg/Agg		1		-1	LIN7C	HGNC	HGNC:17789	protein_coding	YES	CCDS7864.1	ENSP00000278193	Q9NUP9		UPI000000BB45	NM_018362.3	deleterious(0)		4/5		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR14063,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	27499403	27499403	C	T	1	0	0	0	0	1	0	0	0	8720	594	21	3		3	LIN7C	11	27499403	Missense_Mutation	SNP	C	C3N-01489_TP	9887122	27499403	107587219	423	26969											
LRRC4C	0	.	GRCh38	chr11	40115276	40115276	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtcgagctctccaatgtaCctcccctttagattgggagg	7	12	11	11	1	1	1	0	0	1	1	4	3	2	2	4	3	2	2	4	3	3	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1017G>C	p.Arg339Ser	p.R339S	ENST00000278198	2/2	216	194	22	433	433	0	strelka-varscan-mutect	LRRC4C,missense_variant,p.Arg339Ser,ENST00000278198,;LRRC4C,missense_variant,p.Arg339Ser,ENST00000527150,;LRRC4C,missense_variant,p.Arg339Ser,ENST00000530763,NM_020929.2;LRRC4C,missense_variant,p.Arg339Ser,ENST00000528697,NM_001258419.1;LRRC4C,missense_variant,p.Arg339Ser,ENST00000619527,;LRRC4C,downstream_gene_variant,,ENST00000533474,;RP11-454H19.2,upstream_gene_variant,,ENST00000624239,;	G	ENST00000278198	Transcript	missense_variant	2981/4054	1017/1923	339/640	R/S	agG/agC		1		-1	LRRC4C	HGNC	HGNC:29317	protein_coding	YES	CCDS31464.1	ENSP00000278198	Q9HCJ2		UPI000000D9A7		deleterious(0.03)		2/2		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF8,Gene3D:3.80.10.10																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	40115276	40115276	C	G	1	0	0	0	0	1	0	0	0	8903	506	18	4		4	LRRC4C	11	40115276	Missense_Mutation	SNP	C	C3N-01489_TP	12615873	40115276	94971346	424	26970											
TTC17	0	.	GRCh38	chr11	43407410	43407410	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactatactggagagcagtaGgaaatagcacttttgctatt	13	12	10	6	0	0	1	0	0	0	1	0	4	0	2	0	2	4	4	0	2	6	8	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1897G>T	p.Gly633Ter	p.G633*	ENST00000039989	15/24	181	154	27	324	323	1	strelka-varscan-mutect	TTC17,stop_gained,p.Gly633Ter,ENST00000039989,NM_018259.5;TTC17,stop_gained,p.Gly633Ter,ENST00000299240,NM_001307943.1;TTC17,non_coding_transcript_exon_variant,,ENST00000526774,;TTC17,downstream_gene_variant,,ENST00000530483,;	T	ENST00000039989	Transcript	stop_gained	1911/4469	1897/3426	633/1141	G/*	Gga/Tga		1		1	TTC17	HGNC	HGNC:25596	protein_coding	YES	CCDS31466.1	ENSP00000039989	Q96AE7		UPI000006E6C7	NM_018259.5			15/24		Gene3D:1.25.40.10,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR16091,SMART_domains:SM00028,Superfamily_domains:SSF48452																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	81	43407410	43407410	G	T	1	0	0	0	0	0	1	0	0	17193	1001	35	2		2	TTC17	11	43407410	Nonsense_Mutation	SNP	G	C3N-01489_TP	3292134	43407410	91679212	425	26971											
LRP4	0	.	GRCh38	chr11	46886380	46886380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatcagtgctgacatctGtccagtacacgtggtcatcc	8	12	10	11	1	3	1	2	1	1	0	5	1	5	1	2	2	2	3	2	2	2	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2369C>A	p.Thr790Lys	p.T790K	ENST00000378623	17/38	354	288	66	535	535	0	strelka-varscan-mutect	LRP4,missense_variant,p.Thr790Lys,ENST00000378623,NM_002334.3;LRP4,non_coding_transcript_exon_variant,,ENST00000529921,;	T	ENST00000378623	Transcript	missense_variant	2612/8076	2369/5718	790/1905	T/K	aCa/aAa		1		-1	LRP4	HGNC	HGNC:6696	protein_coding	YES	CCDS31478.1	ENSP00000367888	O75096		UPI0000D625E9	NM_002334.3	deleterious(0)		17/38		PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF249,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	46886380	46886380	G	T	1	0	0	0	0	1	0	0	0	8854	1377	48	2		2	LRP4	11	46886380	Missense_Mutation	SNP	G	C3N-01489_TP	3478970	46886380	88200242	426	26972											
OR4C3	0	.	GRCh38	chr11	48325710	48325710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggtcccacagtgcagatgGgagatgcaaagccctctcca	11	6	12	12	0	1	2	0	0	1	2	3	4	2	2	3	2	3	2	3	2	1	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.770G>T	p.Gly257Val	p.G257V	ENST00000319856	1/1	109	92	17	212	211	1	strelka-varscan-mutect	OR4C3,missense_variant,p.Gly257Val,ENST00000319856,NM_001004702.1;OR4C3,missense_variant,p.Gly120Val,ENST00000611380,;	T	ENST00000319856	Transcript	missense_variant	791/1036	770/990	257/329	G/V	gGg/gTg		1		1	OR4C3	HGNC	HGNC:14697	protein_coding	YES	CCDS31489.1	ENSP00000321419	Q8NH37	A0A126GVR6	UPI0000061EA2	NM_001004702.1	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF162,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs974667078	.												T	3	4	81	48325710	48325710	G	T	1	0	0	0	0	1	0	0	0	11126	1232	43	2		2	OR4C3	11	48325710	Missense_Mutation	SNP	G	C3N-01489_TP	1439330	48325710	86760912	427	26973											
OR4C5	0	.	GRCh38	chr11	48365952	48365952	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcgtgaagaaatccccCgacccatgccatggccacca	12	4	9	16	2	0	3	0	1	0	2	1	4	1	3	6	1	2	0	6	1	2	0	rs777300947		C3N-01489_TP	C3N-01489_NB	C	C																c.514G>C	p.Gly172Arg	p.G172R	ENST00000319813	1/1	212	179	33	346	346	0	strelka-varscan-mutect	OR4C5,missense_variant,p.Gly172Arg,ENST00000319813,;	G	ENST00000319813	Transcript	missense_variant	514/981	514/981	172/326	G/R	Ggg/Cgg	rs777300947	1		-1	OR4C5	HGNC	HGNC:14702	protein_coding	YES		ENSP00000321338	Q8NGB2		UPI0000061EE9		deleterious_low_confidence(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF9,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs777300947	.												G	3	3	81	48365952	48365952	C	G	1	0	0	0	0	1	0	0	0	11128	652	23	4		4	OR4C5	11	48365952	Missense_Mutation	SNP	C	C3N-01489_TP	40242	48365952	86720670	428	26974											
OR4P4	0	.	GRCh38	chr11	55638489	55638489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggaaacttactcataatGatttctatcacgtgcaccca	13	12	6	10	1	3	1	2	1	1	0	3	2	3	2	1	1	3	1	1	1	4	4	rs865781161		C3N-01489_TP	C3N-01489_NB	G	G																c.132G>T	p.Met44Ile	p.M44I	ENST00000314612	1/1	130	123	7	203	203	0	strelka-varscan-mutect	OR4P4,missense_variant,p.Met44Ile,ENST00000314612,NM_001004124.2;	T	ENST00000314612	Transcript	missense_variant	132/939	132/939	44/312	M/I	atG/atT	rs865781161,COSM5545485	1		1	OR4P4	HGNC	HGNC:15180	protein_coding	YES	CCDS31504.1	ENSP00000324831	Q8NGL7		UPI0000061E8A	NM_001004124.2	tolerated(0.5)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF386,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV			0,1	1										PASS		rs865781161	.												T	3	4	81	55638489	55638489	G	T	1	0	0	0	0	1	0	0	0	11156	1290	45	2		2	OR4P4	11	55638489	Missense_Mutation	SNP	G	C3N-01489_TP	7272537	55638489	79448133	429	26975											
OR4S2	0	.	GRCh38	chr11	55651711	55651711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcagaggataagatggtgGctgtattttacaccattatc	11	15	9	6	0	1	2	1	0	0	2	2	3	1	3	1	3	1	2	1	3	4	6	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.808G>T	p.Ala270Ser	p.A270S	ENST00000312422	1/1	203	180	23	290	290	0	strelka-varscan-mutect	OR4S2,missense_variant,p.Ala270Ser,ENST00000312422,NM_001004059.2;	T	ENST00000312422	Transcript	missense_variant	808/936	808/936	270/311	A/S	Gct/Tct		1		1	OR4S2	HGNC	HGNC:15183	protein_coding	YES	CCDS31505.1	ENSP00000310337	Q8NH73	A0A126GVG1	UPI00001D77D2	NM_001004059.2	tolerated(0.16)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF110,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	81	55651711	55651711	G	T	1	0	0	0	0	1	0	0	0	11159	1203	42	2		2	OR4S2	11	55651711	Missense_Mutation	SNP	G	C3N-01489_TP	13222	55651711	79434911	430	26976											
OR5M9	0	.	GRCh38	chr11	56463358	56463358	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagctcctgacgacaggtcAgccccaggagagtaaattct	11	8	11	11	1	2	2	1	1	1	1	3	4	3	2	3	2	2	3	3	2	3	3	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.44T>G	p.Leu15Arg	p.L15R	ENST00000279791	1/1	89	77	12	136	136	0	strelka-varscan-mutect	OR5M9,missense_variant,p.Leu15Arg,ENST00000279791,NM_001004743.1;	C	ENST00000279791	Transcript	missense_variant	44/933	44/933	15/310	L/R	cTg/cGg		1		-1	OR5M9	HGNC	HGNC:15294	protein_coding	YES	CCDS31531.1	ENSP00000279791	Q8NGP3	A0A126GVK6	UPI0000061E81	NM_001004743.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF13,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	81	56463358	56463358	A	C	1	0	0	0	0	1	0	0	0	11246	188	7	5		5	OR5M9	11	56463358	Missense_Mutation	SNP	A	C3N-01489_TP	811647	56463358	78623264	431	26977											
OR5M1	0	.	GRCh38	chr11	56613188	56613188	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aactcagtgatcaccagggcGatgaagagaagacactgtgt	14	7	12	8	1	2	4	2	2	0	2	2	6	2	4	1	1	1	0	1	1	3	0	rs755863011		C3N-01489_TP	C3N-01489_NB	G	G																c.315C>G	p.Ile105Met	p.I105M	ENST00000526538	1/1	180	152	28	302	302	0	strelka-varscan-mutect	OR5M1,missense_variant,p.Ile105Met,ENST00000526538,NM_001004740.1;	C	ENST00000526538	Transcript	missense_variant	315/948	315/948	105/315	I/M	atC/atG	rs755863011,COSM3953402	1		-1	OR5M1	HGNC	HGNC:8352	protein_coding	YES	CCDS53631.1	ENSP00000435416	Q8NGP8		UPI0000041C9B	NM_001004740.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF98,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV			0,1	1										PASS		rs755863011	.												C	3	2	81	56613188	56613188	G	C	1	0	0	0	0	1	0	0	0	11241	1048	37	4		4	OR5M1	11	56613188	Missense_Mutation	SNP	G	C3N-01489_TP	149830	56613188	78473434	432	26978											
TNKS1BP1	0	.	GRCh38	chr11	57313625	57313625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccccctcggcagggagccCcgggctgggggtgtggcggg	3	4	21	13	3	0	0	0	0	0	0	1	1	0	1	4	7	2	2	4	7	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1063G>T	p.Gly355Trp	p.G355W	ENST00000532437	4/11	84	75	9	170	169	1	strelka-varscan-mutect	TNKS1BP1,missense_variant,p.Gly355Trp,ENST00000532437,;TNKS1BP1,missense_variant,p.Gly355Trp,ENST00000358252,NM_033396.2;TNKS1BP1,upstream_gene_variant,,ENST00000530920,;TNKS1BP1,3_prime_UTR_variant,,ENST00000528882,;	A	ENST00000532437	Transcript	missense_variant	1375/5952	1063/5190	355/1729	G/W	Ggg/Tgg		1		-1	TNKS1BP1	HGNC	HGNC:19081	protein_coding	YES	CCDS7951.1	ENSP00000437271	Q9C0C2	A0A024R542	UPI000013DB72		deleterious(0)		4/11		Low_complexity_(Seg):seg,hmmpanther:PTHR22042,hmmpanther:PTHR22042:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	57313625	57313625	C	A	1	0	0	0	0	1	0	0	0	16793	623	22	2		2	TNKS1BP1	11	57313625	Missense_Mutation	SNP	C	C3N-01489_TP	700437	57313625	77772997	433	26979											
OR6Q1	0	.	GRCh38	chr11	58031027	58031027	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctggcatccatgaagcAcacctcctcttcttcatact	8	14	5	14	0	3	1	1	1	2	0	5	1	5	1	3	1	3	3	3	1	2	4	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.75A>T	p.=	p.A25A	ENST00000302622	1/1	159	137	22	262	262	0	strelka-varscan-mutect	OR6Q1,synonymous_variant,p.=,ENST00000302622,NM_001005186.2;OR9Q1,intron_variant,,ENST00000335397,NM_001005212.3;RNU6-899P,upstream_gene_variant,,ENST00000363947,;	T	ENST00000302622	Transcript	synonymous_variant	98/1002	75/954	25/317	A	gcA/gcT		1		1	OR6Q1	HGNC	HGNC:15302	protein_coding	YES	CCDS31541.1	ENSP00000307734	Q8NGQ2	A0A126GVP6	UPI000013E7FD	NM_001005186.2			1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF140,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	81	58031027	58031027	A	T	1	0	0	0	0	0	0	0	1	11278	146	6	4		4	OR6Q1	11	58031027	Silent	SNP	A	C3N-01489_TP	717402	58031027	77055595	434	26980											
MS4A14	0	.	GRCh38	chr11	60402926	60402926	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcagggtcaaggtgtcacGggcatgaatgttatcagctc	9	12	12	8	1	4	1	4	1	0	0	5	1	4	1	0	3	1	3	0	3	3	2	rs371907012		C3N-01489_TP	C3N-01489_NB	G	G																c.333G>T	p.=	p.T111T	ENST00000531783	4/6	130	108	22	248	248	0	strelka-varscan-mutect	MS4A14,synonymous_variant,p.=,ENST00000395001,NM_001261827.1;MS4A14,synonymous_variant,p.=,ENST00000300187,NM_032597.4;MS4A14,synonymous_variant,p.=,ENST00000531783,NM_001261828.1;MS4A14,synonymous_variant,p.=,ENST00000395005,NM_001079692.2;MS4A14,synonymous_variant,p.=,ENST00000526375,;MS4A14,synonymous_variant,p.=,ENST00000534688,;MS4A14,5_prime_UTR_variant,,ENST00000531787,;MS4A14,synonymous_variant,p.=,ENST00000530662,;MS4A14,synonymous_variant,p.=,ENST00000527841,;MS4A14,synonymous_variant,p.=,ENST00000525397,;MS4A14,downstream_gene_variant,,ENST00000531949,;	T	ENST00000531783	Transcript	synonymous_variant	424/2910	333/2139	111/712	T	acG/acT	rs371907012	1		1	MS4A14	HGNC	HGNC:30706	protein_coding	YES	CCDS58136.1	ENSP00000433761	Q96JA4		UPI0001F77AC2	NM_001261828.1			4/6		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF10,Transmembrane_helices:TMhelix																	LOW	1	SNV	5			1										PASS		rs371907012	.												T	2	4	81	60402926	60402926	G	T	1	0	0	0	0	0	0	0	1	9835	1103	39	1		1	MS4A14	11	60402926	Silent	SNP	G	C3N-01489_TP	2371899	60402926	74683696	435	26981											
MS4A5	0	.	GRCh38	chr11	60429826	60429826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagaaaaatgaaaatcttagGggtaagtaagacttgcccct	16	10	9	6	0	1	3	0	1	1	2	1	3	1	3	2	2	1	2	2	2	8	5	rs34169848		C3N-01489_TP	C3N-01489_NB	G	G																c.152G>T	p.Gly51Val	p.G51V	ENST00000300190	1/5	83	69	14	127	127	0	strelka-varscan-mutect	MS4A5,missense_variant,p.Gly51Val,ENST00000300190,NM_023945.2;MS4A5,missense_variant,p.Gly25Val,ENST00000528905,;MS4A5,missense_variant,p.Gly18Val,ENST00000528093,;MS4A5,splice_region_variant,,ENST00000534071,;MS4A5,missense_variant,p.Gly51Val,ENST00000533885,;MS4A5,missense_variant,p.Gly51Val,ENST00000531403,;	T	ENST00000300190	Transcript	missense_variant,splice_region_variant	238/722	152/603	51/200	G/V	gGg/gTg	rs34169848	1		1	MS4A5	HGNC	HGNC:13374	protein_coding	YES	CCDS7987.1	ENSP00000300190	Q9H3V2		UPI0000043670	NM_023945.2	deleterious(0)		1/5		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF54,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs34169848	.												T	3	4	81	60429826	60429826	G	T	1	0	0	0	0	1	0	0	0	9842	1246	43	2		2	MS4A5	11	60429826	Missense_Mutation	SNP	G	C3N-01489_TP	26900	60429826	74656796	436	26982											
VWCE	0	.	GRCh38	chr11	61273290	61273290	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccagctcagggcagggCatgaaggagcactccacctc	10	4	13	14	0	1	1	1	1	0	0	3	2	2	2	3	4	2	4	3	4	1	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1608G>T	p.Met536Ile	p.M536I	ENST00000335613	13/20	81	68	13	111	111	0	strelka-varscan-mutect	VWCE,start_lost,p.Met1?,ENST00000535710,;VWCE,missense_variant,p.Met536Ile,ENST00000335613,NM_152718.2;VWCE,missense_variant,p.Met253Ile,ENST00000613271,;VWCE,3_prime_UTR_variant,,ENST00000301770,;VWCE,non_coding_transcript_exon_variant,,ENST00000398808,;VWCE,upstream_gene_variant,,ENST00000538438,;	A	ENST00000335613	Transcript	missense_variant	1995/3640	1608/2868	536/955	M/I	atG/atT		1		-1	VWCE	HGNC	HGNC:26487	protein_coding	YES	CCDS8002.1	ENSP00000334186	Q96DN2		UPI000013E751	NM_152718.2	tolerated(0.22)		13/20		Pfam_domain:PF00093,PROSITE_patterns:PS01208,PROSITE_profiles:PS50184,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF250,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	61273290	61273290	C	A	1	0	0	0	0	1	0	0	0	17804	710	25	2		2	VWCE	11	61273290	Missense_Mutation	SNP	C	C3N-01489_TP	843464	61273290	73813332	437	26983											
SYT7	0	.	GRCh38	chr11	61546253	61546253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcgcccgacaggagggtgCcactggaggcatgcacgagg	8	4	18	11	3	0	0	0	0	0	0	0	4	0	2	2	6	2	2	2	6	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.218G>T	p.Gly73Val	p.G73V	ENST00000540677	4/10	42	35	7	57	57	0	strelka-varscan-mutect	SYT7,missense_variant,p.Gly117Val,ENST00000539008,;SYT7,missense_variant,p.Gly73Val,ENST00000540677,NM_001252065.1;SYT7,missense_variant,p.Gly117Val,ENST00000535826,;SYT7,intron_variant,,ENST00000263846,NM_004200.3;SYT7,intron_variant,,ENST00000542670,;SYT7,intron_variant,,ENST00000542836,NM_001300773.1;SYT7,intron_variant,,ENST00000545053,;RP11-794G24.1,upstream_gene_variant,,ENST00000540906,;SYT7,splice_region_variant,,ENST00000539468,;SYT7,intron_variant,,ENST00000539246,;	A	ENST00000540677	Transcript	missense_variant,splice_region_variant	224/2013	218/1437	73/478	G/V	gGc/gTc		1		-1	SYT7	HGNC	HGNC:11514	protein_coding	YES	CCDS58139.1	ENSP00000444201	O43581		UPI0001639ECE	NM_001252065.1	tolerated_low_confidence(0.1)		4/10		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF230																	MODERATE	1	SNV	1			1										PASS		rs989409706	.												A	3	1	81	61546253	61546253	C	A	1	0	0	0	0	1	0	0	0	15873	753	26	2		2	SYT7	11	61546253	Missense_Mutation	SNP	C	C3N-01489_TP	272963	61546253	73540369	438	26984											
INTS5	0	.	GRCh38	chr11	62647177	62647177	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagaagtcccgaatgaagCgaccccgctctgattggaag	11	7	13	10	3	1	3	0	2	1	1	2	7	2	4	3	2	1	1	3	2	4	1			C3N-01489_TP	C3N-01489_NB	C	C																c.2903G>T	p.Arg968Leu	p.R968L	ENST00000330574	2/2	246	211	35	336	336	0	strelka-varscan-mutect	INTS5,missense_variant,p.Arg968Leu,ENST00000330574,NM_030628.1;GANAB,upstream_gene_variant,,ENST00000346178,NM_198335.3;GANAB,upstream_gene_variant,,ENST00000540933,NM_001278194.1;GANAB,upstream_gene_variant,,ENST00000356638,NM_198334.2;GANAB,upstream_gene_variant,,ENST00000534779,NM_001278192.1,NM_001278193.1;RP11-831H9.11,downstream_gene_variant,,ENST00000528405,;GANAB,upstream_gene_variant,,ENST00000525994,;GANAB,upstream_gene_variant,,ENST00000534419,;GANAB,upstream_gene_variant,,ENST00000532402,;GANAB,upstream_gene_variant,,ENST00000534613,;GANAB,upstream_gene_variant,,ENST00000529737,;GANAB,upstream_gene_variant,,ENST00000526210,;GANAB,upstream_gene_variant,,ENST00000526392,;	A	ENST00000330574	Transcript	missense_variant	2956/3285	2903/3060	968/1019	R/L	cGc/cTc	COSM4692752	1		-1	INTS5	HGNC	HGNC:29352	protein_coding	YES	CCDS8027.1	ENSP00000327889	Q6P9B9		UPI0000161948	NM_030628.1	tolerated(1)		2/2		hmmpanther:PTHR31697:SF2,hmmpanther:PTHR31697,Pfam_domain:PF14838											1						MODERATE	1	SNV	1		1	1										PASS		rs1471548435	.												A	3	1	81	62647177	62647177	C	A	1	0	0	0	0	1	0	0	0	7683	768	27	1		1	INTS5	11	62647177	Missense_Mutation	SNP	C	C3N-01489_TP	1100924	62647177	72439445	439	26985											
OVOL1	0	.	GRCh38	chr11	65794674	65794674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcacctctgcacgtactgcgGgaagggcttcaatgacacct	9	8	11	13	2	2	1	1	1	1	0	2	2	2	2	2	2	3	4	2	2	3	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.455G>T	p.Gly152Val	p.G152V	ENST00000335987	3/4	203	172	31	280	280	0	strelka-varscan-mutect	OVOL1,missense_variant,p.Gly152Val,ENST00000335987,NM_004561.3;OVOL1,missense_variant,p.Gly90Val,ENST00000532448,;RP11-770G2.5,downstream_gene_variant,,ENST00000531155,;OVOL1-AS1,upstream_gene_variant,,ENST00000532454,;OVOL1-AS1,upstream_gene_variant,,ENST00000534178,;OVOL1-AS1,upstream_gene_variant,,ENST00000527453,;OVOL1,downstream_gene_variant,,ENST00000531907,;	T	ENST00000335987	Transcript	missense_variant	807/3034	455/804	152/267	G/V	gGg/gTg		1		1	OVOL1	HGNC	HGNC:8525	protein_coding	YES	CCDS8112.1	ENSP00000337862	O14753		UPI00001D70C0	NM_004561.3	deleterious(0)		3/4		PROSITE_profiles:PS50157,hmmpanther:PTHR10032:SF193,hmmpanther:PTHR10032,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	65794674	65794674	G	T	1	0	0	0	0	1	0	0	0	11396	1232	43	2		2	OVOL1	11	65794674	Missense_Mutation	SNP	G	C3N-01489_TP	3147497	65794674	69291948	440	26986											
TBX10	0	.	GRCh38	chr11	67634837	67634837	+	Missense_Mutation	SNP	G	G	T																															tgtatctcttgtcgtccaggGggatgaagtccatgagcagg																										C3N-01489_TP	C3N-01489_NB	G	G																c.356C>A	p.Pro119His	p.P119H	ENST00000335385	3/8	260	222	38	422	422	0	strelka-varscan-mutect	TBX10,missense_variant,p.Pro119His,ENST00000335385,NM_005995.4;NUDT8,upstream_gene_variant,,ENST00000301490,NM_181843.2;NUDT8,upstream_gene_variant,,ENST00000376693,NM_001243750.1;NUDT8,upstream_gene_variant,,ENST00000534054,;	T	ENST00000335385	Transcript	missense_variant	444/1548	356/1158	119/385	P/H	cCc/cAc	COSM3452360	1		-1	TBX10	HGNC	HGNC:11593	protein_coding	YES	CCDS31621.1	ENSP00000335191	O75333		UPI000017DA69	NM_005995.4	deleterious(0)		3/8		Gene3D:1h6fA00,Pfam_domain:PF00907,PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF102,SMART_domains:SM00425,Superfamily_domains:SSF49417											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	81	67634837	67634837	G	T	1	0	0	0	0	1	0	0	0	16056	1232	43	2		2	TBX10	11	67634837	Missense_Mutation	SNP	G	C3N-01489_TP	1840163	67634837	67451785	441	26987	571	2									
TBX10	0	.	GRCh38	chr11	67634838	67634838	+	Missense_Mutation	SNP	G	G	T																															gtatctcttgtcgtccagggGgatgaagtccatgagcaggg																								novel		C3N-01489_TP	C3N-01489_NB	G	G																c.355C>A	p.Pro119Thr	p.P119T	ENST00000335385	3/8	262	223	39	418	418	0	strelka-varscan-mutect	TBX10,missense_variant,p.Pro119Thr,ENST00000335385,NM_005995.4;NUDT8,upstream_gene_variant,,ENST00000301490,NM_181843.2;NUDT8,upstream_gene_variant,,ENST00000376693,NM_001243750.1;NUDT8,upstream_gene_variant,,ENST00000534054,;	T	ENST00000335385	Transcript	missense_variant	443/1548	355/1158	119/385	P/T	Ccc/Acc		1		-1	TBX10	HGNC	HGNC:11593	protein_coding	YES	CCDS31621.1	ENSP00000335191	O75333		UPI000017DA69	NM_005995.4	deleterious(0)		3/8		Gene3D:1h6fA00,Pfam_domain:PF00907,PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF102,SMART_domains:SM00425,Superfamily_domains:SSF49417																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	67634838	67634838	G	T	1	0	0	0	0	1	0	0	0	16056	1232	43	2		2	TBX10	11	67634838	Missense_Mutation	SNP	G	C3N-01489_TP	1	67634838	67451784	442	26988	571	2									
TENM4	0	.	GRCh38	chr11	78726137	78726137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctccaagcttggacgcGtcaatttcatagccctgcag	9	10	8	14	2	2	0	2	0	0	0	4	1	4	1	3	1	3	2	3	1	3	3	rs689369		C3N-01489_TP	C3N-01489_NB	G	G																c.3492C>T	p.=	p.D1164D	ENST00000278550	23/34	188	161	27	272	272	0	strelka-varscan-mutect	TENM4,synonymous_variant,p.=,ENST00000278550,NM_001098816.2;	A	ENST00000278550	Transcript	synonymous_variant	3955/14000	3492/8310	1164/2769	D	gaC/gaT	rs689369	1		-1	TENM4	HGNC	HGNC:29945	protein_coding	YES	CCDS44688.1	ENSP00000278550	Q6N022		UPI0000DD8112	NM_001098816.2			23/34		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF9																	LOW	1	SNV	5			1										PASS		rs689369	.												A	2	1	81	78726137	78726137	G	A	1	0	0	0	0	0	0	0	1	16174	1136	40	1		1	TENM4	11	78726137	Silent	SNP	G	C3N-01489_TP	11091299	78726137	56360485	443	26989											
TENM4	0	.	GRCh38	chr11	78805392	78805392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactggtctaagcatgtggcCctgggggtctcgcagttggt	5	11	15	10	1	2	0	0	0	2	0	3	0	2	0	1	5	1	3	1	5	1	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2079G>T	p.Arg693Ser	p.R693S	ENST00000278550	15/34	190	164	26	289	288	1	strelka-varscan-mutect	TENM4,missense_variant,p.Arg693Ser,ENST00000278550,NM_001098816.2;TENM4,missense_variant,p.Arg7Ser,ENST00000533525,;	A	ENST00000278550	Transcript	missense_variant	2542/14000	2079/8310	693/2769	R/S	agG/agT		1		-1	TENM4	HGNC	HGNC:29945	protein_coding	YES	CCDS44688.1	ENSP00000278550	Q6N022		UPI0000DD8112	NM_001098816.2	tolerated(0.42)		15/34		PROSITE_profiles:PS50026,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF9																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	81	78805392	78805392	C	A	1	0	0	0	0	1	0	0	0	16174	622	22	2		2	TENM4	11	78805392	Missense_Mutation	SNP	C	C3N-01489_TP	79255	78805392	56281230	444	26990											
FAT3	0	.	GRCh38	chr11	92798981	92798981	+	Missense_Mutation	SNP	T	T	A																															cacaaagcttctattccaccTcaatctcagagaacaacact																								novel		C3N-01489_TP	C3N-01489_NB	T	T																c.5518T>A	p.Ser1840Thr	p.S1840T	ENST00000525166	9/27	184	166	18	332	331	1	strelka-varscan-mutect	FAT3,missense_variant,p.Ser1990Thr,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Ser1840Thr,ENST00000525166,;	A	ENST00000525166	Transcript	missense_variant	5540/18699	5518/13320	1840/4439	S/T	Tca/Aca		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		tolerated(0.62)		9/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	81	92798981	92798981	T	A	1	0	0	0	0	1	0	0	0	5551	1551	54	4		4	FAT3	11	92798981	Missense_Mutation	SNP	T	C3N-01489_TP	13993589	92798981	42287641	445	26991	572	2									
FAT3	0	.	GRCh38	chr11	92798982	92798982	+	Missense_Mutation	SNP	C	C	T																															acaaagcttctattccacctCaatctcagagaacaacacta																										C3N-01489_TP	C3N-01489_NB	C	C																c.5519C>T	p.Ser1840Leu	p.S1840L	ENST00000525166	9/27	186	166	20	338	338	0	strelka-varscan-mutect	FAT3,missense_variant,p.Ser1990Leu,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Ser1840Leu,ENST00000525166,;	T	ENST00000525166	Transcript	missense_variant	5541/18699	5519/13320	1840/4439	S/L	tCa/tTa	COSM3792037,COSM3792038	1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		tolerated(0.43)		9/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	81	92798982	92798982	C	T	1	0	0	0	0	1	0	0	0	5551	838	29	3		3	FAT3	11	92798982	Missense_Mutation	SNP	C	C3N-01489_TP	1	92798982	42287640	446	26992	572	2									
POU2AF1	0	.	GRCh38	chr11	111358794	111358794	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacaaactctcaccgccgtAggtgcaggtgctgccccact	9	7	9	16	2	1	0	1	0	1	0	2	0	1	0	4	2	4	3	4	2	2	1	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.141T>A	p.=	p.P47P	ENST00000393067	2/5	305	269	36	425	425	0	strelka-varscan-mutect	POU2AF1,synonymous_variant,p.=,ENST00000393067,NM_006235.2;POU2AF1,synonymous_variant,p.=,ENST00000531398,;POU2AF1,non_coding_transcript_exon_variant,,ENST00000525584,;POU2AF1,downstream_gene_variant,,ENST00000526535,;POU2AF1,downstream_gene_variant,,ENST00000525499,;POU2AF1,downstream_gene_variant,,ENST00000525662,;POU2AF1,downstream_gene_variant,,ENST00000530793,;	T	ENST00000393067	Transcript	synonymous_variant	656/3295	141/771	47/256	P	ccT/ccA		1		-1	POU2AF1	HGNC	HGNC:9211	protein_coding	YES	CCDS31675.1	ENSP00000376786	Q16633		UPI000011D77C	NM_006235.2			2/5		hmmpanther:PTHR15363,Pfam_domain:PF09310																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	111358794	111358794	A	T	1	0	0	0	0	0	0	0	1	12386	407	15	4		4	POU2AF1	11	111358794	Silent	SNP	A	C3N-01489_TP	18559812	111358794	23727828	447	26993											
NCAM1	0	.	GRCh38	chr11	113232214	113232214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctgtgtacacttgggagGggaaccaggtgaacatcacc	10	8	14	9	0	1	1	1	1	0	0	1	3	1	3	2	5	3	2	2	5	3	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1363G>T	p.Gly455Trp	p.G455W	ENST00000619839	12/21	82	72	10	118	118	0	strelka-varscan-mutect	NCAM1,missense_variant,p.Gly455Trp,ENST00000615285,;NCAM1,missense_variant,p.Gly429Trp,ENST00000615112,;NCAM1,missense_variant,p.Gly419Trp,ENST00000618266,;NCAM1,missense_variant,p.Gly429Trp,ENST00000316851,NM_181351.4;NCAM1,missense_variant,p.Gly419Trp,ENST00000621518,;NCAM1,missense_variant,p.Gly419Trp,ENST00000621128,NM_001242608.1;NCAM1,missense_variant,p.Gly455Trp,ENST00000619839,NM_001242607.1;NCAM1,missense_variant,p.Gly419Trp,ENST00000531044,NM_000615.6;NCAM1,missense_variant,p.Gly419Trp,ENST00000621850,NM_001076682.3;NCAM1,missense_variant,p.Gly419Trp,ENST00000401611,;NCAM1,missense_variant,p.Gly131Trp,ENST00000613217,;NCAM1,intron_variant,,ENST00000620046,;NCAM1,upstream_gene_variant,,ENST00000533073,;NCAM1,upstream_gene_variant,,ENST00000526322,;NCAM1,upstream_gene_variant,,ENST00000528590,;NCAM1,upstream_gene_variant,,ENST00000530543,;NCAM1,non_coding_transcript_exon_variant,,ENST00000611284,;NCAM1,non_coding_transcript_exon_variant,,ENST00000534046,;NCAM1,upstream_gene_variant,,ENST00000531817,;NCAM1,upstream_gene_variant,,ENST00000525355,;	T	ENST00000619839	Transcript	missense_variant	1701/2993	1363/2655	455/884	G/W	Ggg/Tgg		1		1	NCAM1	HGNC	HGNC:7656	protein_coding	YES	CCDS73384.1	ENSP00000480132		A0A087WWD4	UPI00021269F1	NM_001242607.1	deleterious(0.01)		12/21		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF34,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	113232214	113232214	G	T	1	0	0	0	0	1	0	0	0	10218	1232	43	2		2	NCAM1	11	113232214	Missense_Mutation	SNP	G	C3N-01489_TP	1873420	113232214	21854408	448	26994											
TMPRSS13	0	.	GRCh38	chr11	117908757	117908757	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggtgcccgcgtacaccttCcagccctccaggaccttctc	5	9	8	19	2	1	0	0	0	1	0	4	1	3	1	6	2	3	1	6	2	1	3	rs767233672		C3N-01489_TP	C3N-01489_NB	C	C																c.1137G>C	p.Trp379Cys	p.W379C	ENST00000524993	9/13	96	81	15	137	137	0	strelka-varscan-mutect	TMPRSS13,missense_variant,p.Trp344Cys,ENST00000528626,NM_001206789.1;TMPRSS13,missense_variant,p.Trp379Cys,ENST00000526090,NM_001206790.1;TMPRSS13,missense_variant,p.Trp379Cys,ENST00000445164,;TMPRSS13,missense_variant,p.Trp379Cys,ENST00000430170,NM_001244995.1;TMPRSS13,missense_variant,p.Trp379Cys,ENST00000524993,NM_001077263.2;TMPRSS13,downstream_gene_variant,,ENST00000528135,;	G	ENST00000524993	Transcript	missense_variant	1195/1950	1137/1704	379/567	W/C	tgG/tgC	rs767233672	1		-1	TMPRSS13	HGNC	HGNC:29808	protein_coding	YES	CCDS41721.1	ENSP00000434279		E9PRA0	UPI0000E5923F	NM_001077263.2	deleterious(0)		9/13		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF153,hmmpanther:PTHR24256,PIRSF_domain:PIRSF037935,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs767233672	.												G	3	3	81	117908757	117908757	C	G	1	0	0	0	0	1	0	0	0	16721	856	30	4		4	TMPRSS13	11	117908757	Missense_Mutation	SNP	C	C3N-01489_TP	4676543	117908757	17177865	449	26995											
TMPRSS13	0	.	GRCh38	chr11	117918702	117918702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctgggctggagatgccCggcccggaggtgtcccagct	5	7	16	13	2	0	1	0	0	0	1	1	3	1	2	4	5	3	2	4	5	0	0	rs769945026		C3N-01489_TP	C3N-01489_NB	C	C																c.158G>T	p.Arg53Leu	p.R53L	ENST00000524993	2/13	470	396	74	660	659	1	strelka-varscan-mutect	TMPRSS13,missense_variant,p.Arg53Leu,ENST00000528626,NM_001206789.1;TMPRSS13,missense_variant,p.Arg53Leu,ENST00000526090,NM_001206790.1;TMPRSS13,missense_variant,p.Arg53Leu,ENST00000445164,;TMPRSS13,missense_variant,p.Arg53Leu,ENST00000430170,NM_001244995.1;TMPRSS13,missense_variant,p.Arg53Leu,ENST00000524993,NM_001077263.2;TMPRSS13,non_coding_transcript_exon_variant,,ENST00000525794,;TMPRSS13,intron_variant,,ENST00000528135,;	A	ENST00000524993	Transcript	missense_variant	216/1950	158/1704	53/567	R/L	cGg/cTg	rs769945026	1		-1	TMPRSS13	HGNC	HGNC:29808	protein_coding	YES	CCDS41721.1	ENSP00000434279		E9PRA0	UPI0000E5923F	NM_001077263.2	deleterious_low_confidence(0.03)		2/13		PIRSF_domain:PIRSF037935																	MODERATE	1	SNV	1			1										PASS		rs769945026	.												A	3	1	81	117918702	117918702	C	A	1	0	0	0	0	1	0	0	0	16721	652	23	1		1	TMPRSS13	11	117918702	Missense_Mutation	SNP	C	C3N-01489_TP	9945	117918702	17167920	450	26996											
TMPRSS4	0	.	GRCh38	chr11	118111750	118111750	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtgtccagcctgtgggaAgagcctgaagaccccccgtg	7	7	13	14	1	0	3	0	1	0	2	1	4	1	4	7	1	2	0	7	1	2	0	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.593A>T	p.Lys198Met	p.K198M	ENST00000618855	8/13	53	42	11	86	86	0	strelka-varscan-mutect	TMPRSS4,missense_variant,p.Lys196Met,ENST00000534111,NM_001173551.1;TMPRSS4,missense_variant,p.Lys198Met,ENST00000618855,NM_019894.3,NM_001290094.1;TMPRSS4,missense_variant,p.Lys160Met,ENST00000616579,;TMPRSS4,missense_variant,p.Lys198Met,ENST00000437212,;TMPRSS4,missense_variant,p.Lys193Met,ENST00000522824,NM_001083947.1;TMPRSS4,missense_variant,p.Lys158Met,ENST00000523251,NM_001173552.1;TMPRSS4,missense_variant,p.Lys51Met,ENST00000522307,NM_001290096.1;TMPRSS4,missense_variant,p.Lys145Met,ENST00000522151,;TMPRSS4,downstream_gene_variant,,ENST00000517544,;TMPRSS4,upstream_gene_variant,,ENST00000524218,;TMPRSS4,upstream_gene_variant,,ENST00000518413,;TMPRSS4,missense_variant,p.Lys196Met,ENST00000519236,;TMPRSS4,3_prime_UTR_variant,,ENST00000517483,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000528118,;TMPRSS4,downstream_gene_variant,,ENST00000519813,;TMPRSS4,upstream_gene_variant,,ENST00000523770,;TMPRSS4,downstream_gene_variant,,ENST00000522462,;TMPRSS4,upstream_gene_variant,,ENST00000518610,;	T	ENST00000618855	Transcript	missense_variant	884/3531	593/1314	198/437	K/M	aAg/aTg		1		1	TMPRSS4	HGNC	HGNC:11878	protein_coding	YES	CCDS31684.1	ENSP00000477949	Q9NRS4		UPI00001FA467	NM_019894.3,NM_001290094.1	deleterious(0.02)		8/13		hmmpanther:PTHR24256:SF228,hmmpanther:PTHR24256,Pfam_domain:PF15494,Superfamily_domains:SSF56487,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	118111750	118111750	A	T	1	0	0	0	0	1	0	0	0	16725	72	3	4		4	TMPRSS4	11	118111750	Missense_Mutation	SNP	A	C3N-01489_TP	193048	118111750	16974872	451	26997											
ERC1	0	.	GRCh38	chr12	1083571	1083571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaaaagagaacagtatGttgagagaggtatgtgacta	18	8	13	2	0	0	4	0	2	0	2	0	7	0	5	0	2	1	3	0	2	7	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1077G>T	p.Met359Ile	p.M359I	ENST00000589028	2/18	64	59	5	102	102	0	strelka-varscan-mutect	ERC1,missense_variant,p.Met359Ile,ENST00000543086,NM_178039.3;ERC1,missense_variant,p.Met359Ile,ENST00000589028,NM_178040.3;ERC1,missense_variant,p.Met359Ile,ENST00000397203,;ERC1,missense_variant,p.Met359Ile,ENST00000355446,NM_001301248.1;ERC1,missense_variant,p.Met359Ile,ENST00000360905,;ERC1,missense_variant,p.Met359Ile,ENST00000546231,;ERC1,missense_variant,p.Met208Ile,ENST00000592048,;ERC1,intron_variant,,ENST00000611180,;ERC1,upstream_gene_variant,,ENST00000536573,;ERC1,missense_variant,p.Met359Ile,ENST00000440394,;ERC1,missense_variant,p.Met359Ile,ENST00000347735,;ERC1,missense_variant,p.Met359Ile,ENST00000542302,;ERC1,non_coding_transcript_exon_variant,,ENST00000538971,;ERC1,non_coding_transcript_exon_variant,,ENST00000539007,;ERC1,intron_variant,,ENST00000545948,;	T	ENST00000589028	Transcript	missense_variant	1234/9202	1077/3351	359/1116	M/I	atG/atT		1		1	ERC1	HGNC	HGNC:17072	protein_coding	YES	CCDS8508.1	ENSP00000468263	Q8IUD2		UPI000007479C	NM_178040.3	tolerated(0.32)		2/18		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10174,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	1083571	1083571	G	T	1	0	0	0	0	1	0	0	0	5059	1377	48	2		2	ERC1	12	1083571	Missense_Mutation	SNP	G	C3N-01489_TP		1083571	132191738	452	26998											
LRRC23	0	.	GRCh38	chr12	6906576	6906576	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagatgaatgaactgccctAcctgcagattgctagttttg	10	12	9	10	0	0	4	0	2	0	2	0	4	0	4	3	0	5	3	3	0	4	5	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.404A>T	p.Tyr135Phe	p.Y135F	ENST00000443597	4/8	298	255	43	479	477	2	strelka-varscan-mutect	LRRC23,missense_variant,p.Tyr135Phe,ENST00000443597,NM_001135217.1;LRRC23,missense_variant,p.Tyr135Phe,ENST00000007969,NM_201650.2;LRRC23,missense_variant,p.Tyr135Phe,ENST00000433346,;LRRC23,missense_variant,p.Tyr135Phe,ENST00000323702,NM_006992.3;LRRC23,missense_variant,p.Tyr135Phe,ENST00000622489,;LRRC23,missense_variant,p.Tyr135Phe,ENST00000436789,;LRRC23,missense_variant,p.Tyr135Phe,ENST00000429740,;LRRC23,downstream_gene_variant,,ENST00000415834,;LRRC23,non_coding_transcript_exon_variant,,ENST00000457146,;LRRC23,downstream_gene_variant,,ENST00000449039,;LRRC23,3_prime_UTR_variant,,ENST00000451681,;LRRC23,3_prime_UTR_variant,,ENST00000431207,;LRRC23,3_prime_UTR_variant,,ENST00000428946,;LRRC23,non_coding_transcript_exon_variant,,ENST00000486401,;	T	ENST00000443597	Transcript	missense_variant	623/1628	404/1032	135/343	Y/F	tAc/tTc		1		1	LRRC23	HGNC	HGNC:19138	protein_coding	YES	CCDS8569.1	ENSP00000390932	Q53EV4		UPI000013C506	NM_001135217.1	tolerated(0.18)		4/8		PROSITE_profiles:PS51450,hmmpanther:PTHR24365:SF298,hmmpanther:PTHR24365,Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	6906576	6906576	A	T	1	0	0	0	0	1	0	0	0	8873	391	14	4		4	LRRC23	12	6906576	Missense_Mutation	SNP	A	C3N-01489_TP	5823005	6906576	126368733	453	26999											
CLEC4E	0	.	GRCh38	chr12	8534719	8534719	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggaaacaggttacatcAttccaattttgccttgggtt	10	15	9	7	0	1	1	1	1	0	0	2	2	2	2	2	3	3	2	2	3	3	7	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.579T>C	p.=	p.N193N	ENST00000299663	6/6	185	164	21	346	345	1	strelka-varscan-mutect	CLEC4E,stop_lost,p.Ter95ArgextTer12,ENST00000537698,;CLEC4E,synonymous_variant,p.=,ENST00000299663,NM_014358.3;CLEC4E,synonymous_variant,p.=,ENST00000545274,;CLEC4E,3_prime_UTR_variant,,ENST00000446457,;CLEC4E,downstream_gene_variant,,ENST00000446809,;CLEC4E,downstream_gene_variant,,ENST00000450725,;	G	ENST00000299663	Transcript	synonymous_variant	745/2159	579/660	193/219	N	aaT/aaC		1		-1	CLEC4E	HGNC	HGNC:14555	protein_coding	YES	CCDS8594.1	ENSP00000299663	Q9ULY5		UPI0000037798	NM_014358.3			6/6		PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF226,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	81	8534719	8534719	A	G	1	0	0	0	0	0	0	0	1	3283	214	8	5		5	CLEC4E	12	8534719	Silent	SNP	A	C3N-01489_TP	1628143	8534719	124740590	454	27000											
PZP	0	.	GRCh38	chr12	9166060	9166060	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagttacttacttcactgcCaccaactcccagatccaagt	13	10	4	14	0	1	1	1	0	0	1	3	1	3	1	4	0	4	1	4	0	5	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2250G>T	p.=	p.V750V	ENST00000261336	18/36	85	73	12	148	147	1	strelka-varscan-mutect	PZP,synonymous_variant,p.=,ENST00000261336,NM_002864.2;PZP,non_coding_transcript_exon_variant,,ENST00000539983,;PZP,non_coding_transcript_exon_variant,,ENST00000546197,;PZP,non_coding_transcript_exon_variant,,ENST00000543108,;PZP,non_coding_transcript_exon_variant,,ENST00000540995,;PZP,downstream_gene_variant,,ENST00000546116,;PZP,3_prime_UTR_variant,,ENST00000535230,;	A	ENST00000261336	Transcript	synonymous_variant	2279/4610	2250/4449	750/1482	V	gtG/gtT		1		-1	PZP	HGNC	HGNC:9750	protein_coding	YES	CCDS8600.1	ENSP00000261336	P20742		UPI000013D168	NM_002864.2			18/36		Pfam_domain:PF00207,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF92,SMART_domains:SM01360																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	9166060	9166060	C	A	1	0	0	0	0	0	0	0	1	13025	581	21	2		2	PZP	12	9166060	Silent	SNP	C	C3N-01489_TP	631341	9166060	124109249	455	27001											
SLCO1B1	0	.	GRCh38	chr12	21178960	21178960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatgattggtccaatcattGgctttaccctgggatctctg	8	14	9	10	0	2	1	1	1	1	0	4	2	3	2	2	3	1	1	2	3	3	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.667G>T	p.Gly223Cys	p.G223C	ENST00000256958	7/15	264	246	18	318	318	0	strelka-varscan-mutect	SLCO1B1,missense_variant,p.Gly223Cys,ENST00000256958,NM_006446.4;RP11-125O5.2,downstream_gene_variant,,ENST00000543498,;	T	ENST00000256958	Transcript	missense_variant	763/2229	667/2076	223/691	G/C	Ggc/Tgc		1		1	SLCO1B1	HGNC	HGNC:10959	protein_coding	YES	CCDS8685.1	ENSP00000256958	Q9Y6L6	A0A024RAU7	UPI0000043BED	NM_006446.4	deleterious(0)		7/15		Gene3D:1.20.1250.20,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF82,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	21178960	21178960	G	T	1	0	0	0	0	1	0	0	0	15009	1348	47	2		2	SLCO1B1	12	21178960	Missense_Mutation	SNP	G	C3N-01489_TP	12012900	21178960	112096349	456	27002											
KRAS	0	.	GRCh38	chr12	25245350	25245350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		C3N-01489_TP	C3N-01489_NB	C	C																c.35G>T	p.Gly12Val	p.G12V	ENST00000256078	2/6	262	233	29	436	436	0	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Val,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Val,ENST00000556131,;KRAS,missense_variant,p.Gly12Val,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Val,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	99/1119	35/570	12/189	G/V	gGt/gTt	rs121913529,CM087372,COSM1135366,COSM1140133,COSM1140134,COSM12657,COSM49168,COSM520,COSM521,COSM522	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										pathogenic	0,0,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1,1,1	1										PASS		rs121913529	.												A	3	1	81	25245350	25245350	C	A	1	0	0	0	0	1	0	0	0	8318	507	18	2		2	KRAS	12	25245350	Missense_Mutation	SNP	C	C3N-01489_TP	4066390	25245350	108029959	457	27003											
OVCH1	0	.	GRCh38	chr12	29461853	29461853	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataaaaccagaatcctctcaCctggcagaaatctttctctc	13	11	4	13	0	3	2	1	0	3	2	7	2	4	2	3	1	1	1	3	1	4	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2280+1G>T		p.X760_splice	ENST00000318184		251	228	23	456	456	0	strelka-varscan-mutect	OVCH1,splice_donor_variant,,ENST00000318184,NM_183378.2;OVCH1-AS1,non_coding_transcript_exon_variant,,ENST00000550906,;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;	A	ENST00000318184	Transcript	splice_donor_variant	-/3405	2280/3405	760/1134				1		-1	OVCH1	HGNC	HGNC:23080	protein_coding	YES		ENSP00000326708	Q7RTY7		UPI000040640A	NM_183378.2				19/27																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	81	29461853	29461853	C	A	1	0	0	0	0	0	0	1	0	11393	521	18	2		2	OVCH1	12	29461853	Splice_Site	SNP	C	C3N-01489_TP	4216503	29461853	103813456	458	27004											
OVOS2	0	.	GRCh38	chr12	31132245	31132245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaaaatttgatcaacttacCcacaacagtgaaaaagcctc	18	8	4	11	0	1	2	1	2	0	0	2	2	1	2	2	0	4	0	2	0	7	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2818G>T	p.Gly940Trp	p.G940W	ENST00000632817	21/34	191	171	20	315	315	0	strelka-varscan-mutect	OVOS2,missense_variant,p.Gly940Trp,ENST00000398963,;OVOS2,missense_variant,p.Gly940Trp,ENST00000632817,;	A	ENST00000632817	Transcript	missense_variant,splice_region_variant	2818/4299	2818/4299	940/1432	G/W	Ggg/Tgg		1		-1	OVOS2	Clone_based_vega_gene		protein_coding	YES		ENSP00000487815		A0A0J9YW53	UPI0001AE6AF7		deleterious(0)		21/34		hmmpanther:PTHR11412:SF77,hmmpanther:PTHR11412																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	81	31132245	31132245	C	A	1	0	0	0	0	1	0	0	0	11399	637	22	2		2	OVOS2	12	31132245	Missense_Mutation	SNP	C	C3N-01489_TP	1670392	31132245	102143064	459	27005											
FAM60A	0	.	GRCh38	chr12	31282715	31282715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacataaaaacctcagtcaCcactcctgagtggagatggg	13	8	9	11	0	2	2	2	1	0	1	3	3	3	2	3	2	2	0	3	2	4	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.663G>T	p.Trp221Cys	p.W221C	ENST00000337682	6/6	56	48	8	104	104	0	strelka-varscan-mutect	FAM60A,missense_variant,p.Trp221Cys,ENST00000337682,NM_021238.2,NM_001135811.1,NM_001135812.1;FAM60A,missense_variant,p.Trp73Cys,ENST00000539409,;FAM60A,missense_variant,p.Trp221Cys,ENST00000454658,;FAM60A,missense_variant,p.Trp73Cys,ENST00000542983,;RP11-627K11.6,upstream_gene_variant,,ENST00000622889,;FAM60A,3_prime_UTR_variant,,ENST00000544921,;FAM60A,non_coding_transcript_exon_variant,,ENST00000448582,;	A	ENST00000337682	Transcript	missense_variant	1032/3163	663/666	221/221	W/C	tgG/tgT		1		-1	FAM60A	HGNC	HGNC:30702	protein_coding	YES	CCDS8723.1	ENSP00000337477	Q9NP50		UPI00000373C6	NM_021238.2,NM_001135811.1,NM_001135812.1	deleterious_low_confidence(0)		6/6		hmmpanther:PTHR13422,hmmpanther:PTHR13422:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	31282715	31282715	C	A	1	0	0	0	0	1	0	0	0	5461	508	18	2		2	FAM60A	12	31282715	Missense_Mutation	SNP	C	C3N-01489_TP	150470	31282715	101992594	460	27006											
C12orf40	0	.	GRCh38	chr12	39716804	39716804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactagttactctccaagacCaacagacagctgtttcagtt	12	12	6	11	0	2	2	1	0	1	2	3	2	2	2	2	0	4	4	2	0	5	5	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1460C>A	p.Pro487Gln	p.P487Q	ENST00000324616	12/13	147	128	19	232	231	1	strelka-varscan-mutect	C12orf40,missense_variant,p.Pro487Gln,ENST00000324616,NM_001031748.2;C12orf40,3_prime_UTR_variant,,ENST00000468200,;	A	ENST00000324616	Transcript	missense_variant	1614/2776	1460/1959	487/652	P/Q	cCa/cAa		1		1	C12orf40	HGNC	HGNC:26846	protein_coding	YES	CCDS41770.1	ENSP00000317671	Q86WS4		UPI000069A925	NM_001031748.2	tolerated(0.32)		12/13		Low_complexity_(Seg):seg,hmmpanther:PTHR35158:SF1,hmmpanther:PTHR35158,Pfam_domain:PF15089																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	39716804	39716804	C	A	1	0	0	0	0	1	0	0	0	1809	594	21	2		2	C12orf40	12	39716804	Missense_Mutation	SNP	C	C3N-01489_TP	8434089	39716804	93558505	461	27007											
ADAMTS20	0	.	GRCh38	chr12	43462976	43462976	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcttttctgtgcttgtGcaccacagatgcatgcatat	9	14	9	9	0	1	2	0	1	1	1	1	2	1	2	1	0	5	5	1	0	2	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1533C>A	p.Cys511Ter	p.C511*	ENST00000389420	11/39	149	140	9	224	224	0	strelka-varscan-mutect	ADAMTS20,stop_gained,p.Cys511Ter,ENST00000389420,NM_025003.3;ADAMTS20,stop_gained,p.Cys511Ter,ENST00000395541,;ADAMTS20,stop_gained,p.Cys511Ter,ENST00000553158,;	T	ENST00000389420	Transcript	stop_gained	1533/6076	1533/5733	511/1910	C/*	tgC/tgA		1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3			11/39		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	81	43462976	43462976	G	T	1	0	0	0	0	0	1	0	0	310	1311	46	2		2	ADAMTS20	12	43462976	Nonsense_Mutation	SNP	G	C3N-01489_TP	3746172	43462976	89812333	462	27008											
KRT6B	0	.	GRCh38	chr12	52447981	52447981	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagcatcagcaatggcGgcctgtaggttggcacacta	9	9	12	11	1	2	0	2	0	0	0	2	0	2	0	1	4	3	6	1	4	3	3	rs388626		C3N-01489_TP	C3N-01489_NB	G	G																c.1221C>T	p.=	p.A407A	ENST00000252252	7/9	419	385	34	581	580	1	varscan-mutect	KRT6B,synonymous_variant,p.=,ENST00000252252,NM_005555.3;	A	ENST00000252252	Transcript	synonymous_variant	1269/2282	1221/1695	407/564	A	gcC/gcT	rs388626	1		-1	KRT6B	HGNC	HGNC:6444	protein_coding	YES	CCDS8828.1	ENSP00000252252	P04259		UPI000013CD50	NM_005555.3			7/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Gene3D:1.20.5.170,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF64593																	LOW	1	SNV	1			1										PASS		rs388626	.												A	2	1	81	52447981	52447981	G	A	1	0	0	0	0	0	0	0	1	8363	1103	39	1		1	KRT6B	12	52447981	Silent	SNP	G	C3N-01489_TP	8985005	52447981	80827328	463	27009											
KRT6C	0	.	GRCh38	chr12	52472248	52472248	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggtccacttggtgtcCagaaccttgttctgctgctc	6	12	11	12	0	1	1	0	0	1	1	4	1	3	1	3	2	4	4	3	2	1	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.573G>T	p.=	p.L191L	ENST00000252250	2/9	325	288	37	491	491	0	varscan-mutect	KRT6C,synonymous_variant,p.=,ENST00000252250,NM_173086.4;KRT6C,upstream_gene_variant,,ENST00000553087,;	A	ENST00000252250	Transcript	synonymous_variant	621/2289	573/1695	191/564	L	ctG/ctT		1		-1	KRT6C	HGNC	HGNC:20406	protein_coding	YES	CCDS8829.1	ENSP00000252250	P48668		UPI00001AE73F	NM_173086.4			2/9		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,SMART_domains:SM01391,Superfamily_domains:SSF64593																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	52472248	52472248	C	A	1	0	0	0	0	0	0	0	1	8364	581	21	2		2	KRT6C	12	52472248	Silent	SNP	C	C3N-01489_TP	24267	52472248	80803061	464	27010											
KRT76	0	.	GRCh38	chr12	52768942	52768942	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcccccagtgctgccactgCtgacccctccatagccactg	6	8	8	19	0	0	1	0	1	0	0	1	1	1	1	7	0	5	2	7	0	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1688G>C	p.Ser563Thr	p.S563T	ENST00000332411	9/9	92	79	13	149	149	0	strelka-varscan-mutect	KRT76,missense_variant,p.Ser563Thr,ENST00000332411,NM_015848.4;	G	ENST00000332411	Transcript	missense_variant	1742/2529	1688/1917	563/638	S/T	aGc/aCc		1		-1	KRT76	HGNC	HGNC:24430	protein_coding	YES	CCDS8838.1	ENSP00000330101	Q01546		UPI000019B3C1	NM_015848.4	tolerated(0.16)		9/9		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF199,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	52768942	52768942	C	G	1	0	0	0	0	1	0	0	0	8371	797	28	4		4	KRT76	12	52768942	Missense_Mutation	SNP	C	C3N-01489_TP	296694	52768942	80506367	465	27011											
MFSD5	0	.	GRCh38	chr12	53253548	53253548	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttctcaaggacctgtgctgGaggcctgcgctgcctcctgt	4	11	12	14	1	1	0	1	0	1	0	3	2	2	2	4	3	3	2	4	3	1	1	rs778246487		C3N-01489_TP	C3N-01489_NB	G	G																c.1034G>C	p.Gly345Ala	p.G345A	ENST00000534842	2/2	220	191	29	321	321	0	strelka-varscan-mutect	MFSD5,missense_variant,p.Gly345Ala,ENST00000534842,NM_001170790.1;MFSD5,missense_variant,p.Gly238Ala,ENST00000329548,NM_032889.4;MFSD5,missense_variant,p.Gly345Ala,ENST00000551660,;MFSD5,downstream_gene_variant,,ENST00000546655,;MFSD5,downstream_gene_variant,,ENST00000552097,;	C	ENST00000534842	Transcript	missense_variant	1181/2038	1034/1674	345/557	G/A	gGa/gCa	rs778246487	1		1	MFSD5	HGNC	HGNC:28156	protein_coding	YES	CCDS53796.1	ENSP00000442688	Q6N075		UPI0000EE2648	NM_001170790.1	tolerated(0.32)		2/2		hmmpanther:PTHR23516:SF1,hmmpanther:PTHR23516,Pfam_domain:PF05631,Superfamily_domains:SSF103473																	MODERATE	1	SNV	2			1										PASS		rs778246487	.												C	3	2	81	53253548	53253548	G	C	1	0	0	0	0	1	0	0	0	9492	1174	41	4		4	MFSD5	12	53253548	Missense_Mutation	SNP	G	C3N-01489_TP	484606	53253548	80021761	466	27012											
HOXC10	0	.	GRCh38	chr12	53985683	53985683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agtcctgccttggggagcacGaggtacccgtgcccagctac	7	7	13	14	2	0	0	0	0	0	0	1	2	1	1	4	3	6	3	4	3	2	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.424G>C	p.Glu142Gln	p.E142Q	ENST00000303460	1/2	73	68	5	128	128	0	strelka-varscan-mutect	HOXC10,missense_variant,p.Glu142Gln,ENST00000303460,NM_017409.3;HOXC10,missense_variant,p.Glu30Gln,ENST00000515593,;RP11-834C11.12,upstream_gene_variant,,ENST00000513209,;HOXC6,upstream_gene_variant,,ENST00000504315,;HOXC-AS3,upstream_gene_variant,,ENST00000509870,;HOXC-AS3,upstream_gene_variant,,ENST00000513165,;HOXC-AS3,upstream_gene_variant,,ENST00000514702,;HOXC10,upstream_gene_variant,,ENST00000511575,;HOXC10,upstream_gene_variant,,ENST00000513413,;HOXC10,upstream_gene_variant,,ENST00000514415,;HOXC-AS3,upstream_gene_variant,,ENST00000567780,;	C	ENST00000303460	Transcript	missense_variant	498/1936	424/1029	142/342	E/Q	Gag/Cag		1		1	HOXC10	HGNC	HGNC:5122	protein_coding	YES	CCDS8868.1	ENSP00000307321	Q9NYD6	Q53XI4	UPI000012CF7C	NM_017409.3	deleterious(0.02)		1/2		hmmpanther:PTHR24326:SF135,hmmpanther:PTHR24326																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	53985683	53985683	G	C	1	0	0	0	0	1	0	0	0	7203	1059	37	4		4	HOXC10	12	53985683	Missense_Mutation	SNP	G	C3N-01489_TP	732135	53985683	79289626	467	27013											
OR6C70	0	.	GRCh38	chr12	55469880	55469880	+	Frame_Shift_Del	DEL	C	C	-																															attacaggaaatggtcttttCcctggtaacaatggtgatta																								rs767288966		C3N-01489_TP	C3N-01489_NB	C	C																c.259delG	p.Glu87LysfsTer27	p.E87Kfs*27	ENST00000327335	1/1	110	103	7	197	197	0	varindel-pindel	OR6C70,frameshift_variant,p.Glu87LysfsTer27,ENST00000327335,NM_001005499.1;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000555146,;RP11-110A12.2,intron_variant,,ENST00000554049,;RP11-110A12.2,intron_variant,,ENST00000555138,;	-	ENST00000327335	Transcript	frameshift_variant	259/939	259/939	87/312	E/X	Gaa/aa	rs767288966,COSM3463100	1		-1	OR6C70	HGNC	HGNC:31299	protein_coding	YES	CCDS31825.1	ENSP00000329153	A6NIJ9		UPI000044D40E	NM_001005499.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26454:SF17,hmmpanther:PTHR26454,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											0,1						HIGH		deletion			0,1	1										PASS		.	.												-	7	5	81	55469880	55469880	C	-	1	0	1	0	1	0	0	0	0	11265	864	30	0		0	OR6C70	12	55469880	Frame_Shift_Del	DEL	C	C3N-01489_TP	1484197	55469880	77805429	468	27014											
BEST3	0	.	GRCh38	chr12	69655688	69655688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctcctgtagcttcttcttCtggggctggaggggtgttcg	2	14	15	10	1	3	0	0	0	3	0	5	1	4	1	2	5	1	4	2	5	1	5	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1226G>C	p.Arg409Thr	p.R409T	ENST00000330891	10/10	172	161	11	246	246	0	strelka-varscan-mutect	BEST3,missense_variant,p.Arg409Thr,ENST00000330891,NM_032735.2;BEST3,missense_variant,p.Arg303Thr,ENST00000553096,NM_001282613.1;BEST3,missense_variant,p.Arg196Thr,ENST00000488961,NM_152439.3;BEST3,intron_variant,,ENST00000331471,NM_001282614.1;RP11-588G21.1,downstream_gene_variant,,ENST00000622965,;BEST3,intron_variant,,ENST00000547208,;	G	ENST00000330891	Transcript	missense_variant	1453/3532	1226/2007	409/668	R/T	aGa/aCa		1		-1	BEST3	HGNC	HGNC:17105	protein_coding	YES	CCDS8992.2	ENSP00000332413	Q8N1M1		UPI000006E397	NM_032735.2	tolerated(0.76)		10/10		hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	81	69655688	69655688	C	G	1	0	0	0	0	1	0	0	0	1554	913	32	4		4	BEST3	12	69655688	Missense_Mutation	SNP	C	C3N-01489_TP	14185808	69655688	63619621	469	27015											
PTPRR	0	.	GRCh38	chr12	70701219	70701219	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcggctggctgactgcAgatactccattgctaccttc	8	12	9	12	1	0	2	0	1	0	1	3	3	1	2	2	2	4	4	2	2	3	5	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.1112T>A	p.Leu371Gln	p.L371Q	ENST00000283228	7/14	244	220	24	370	370	0	strelka-varscan-mutect	PTPRR,missense_variant,p.Leu371Gln,ENST00000283228,NM_002849.3;PTPRR,missense_variant,p.Leu126Gln,ENST00000440835,NM_130846.2;PTPRR,missense_variant,p.Leu165Gln,ENST00000378778,NM_001207016.1;PTPRR,missense_variant,p.Leu259Gln,ENST00000342084,NM_001207015.1;PTPRR,missense_variant,p.Leu126Gln,ENST00000549308,;PTPRR,missense_variant,p.Leu126Gln,ENST00000550661,;PTPRR,non_coding_transcript_exon_variant,,ENST00000548220,;PTPRR,intron_variant,,ENST00000551219,;	T	ENST00000283228	Transcript	missense_variant	1565/3529	1112/1974	371/657	L/Q	cTg/cAg		1		-1	PTPRR	HGNC	HGNC:9680	protein_coding	YES	CCDS8998.1	ENSP00000283228	Q15256		UPI000013DD2F	NM_002849.3	deleterious(0)		7/14		hmmpanther:PTHR19134:SF264,hmmpanther:PTHR19134,PIRSF_domain:PIRSF001997,Superfamily_domains:SSF52799,Prints_domain:PR01778																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	70701219	70701219	A	T	1	0	0	0	0	1	0	0	0	12965	188	7	4		4	PTPRR	12	70701219	Missense_Mutation	SNP	A	C3N-01489_TP	1045531	70701219	62574090	470	27016											
TRHDE	0	.	GRCh38	chr12	72618905	72618905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagggctggctatttgcCtcagaatattcctctggaga	8	13	11	9	0	2	2	1	0	1	2	3	3	3	2	2	3	1	3	2	3	4	5	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2201C>T	p.Pro734Leu	p.P734L	ENST00000261180	13/19	65	56	9	55	55	0	varscan-mutect	TRHDE,missense_variant,p.Pro734Leu,ENST00000261180,NM_013381.2;TRHDE,non_coding_transcript_exon_variant,,ENST00000549138,;TRHDE,non_coding_transcript_exon_variant,,ENST00000549922,;	T	ENST00000261180	Transcript	missense_variant	2297/10733	2201/3075	734/1024	P/L	cCt/cTt		1		1	TRHDE	HGNC	HGNC:30748	protein_coding	YES	CCDS9004.1	ENSP00000261180	Q9UKU6		UPI0000136D52	NM_013381.2	deleterious(0.03)		13/19		Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	72618905	72618905	C	T	1	0	0	0	0	1	0	0	0	16968	681	24	3		3	TRHDE	12	72618905	Missense_Mutation	SNP	C	C3N-01489_TP	1917686	72618905	60656404	471	27017											
NAV3	0	.	GRCh38	chr12	78050878	78050878	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgggccaggcatgtccGcgacttcaggcgggagatgc	7	7	17	10	3	1	1	1	0	0	1	2	3	2	1	2	5	1	2	2	5	0	2	rs367740483		C3N-01489_TP	C3N-01489_NB	G	G																c.2247G>C	p.=	p.P749P	ENST00000397909	11/40	148	136	12	200	200	0	strelka-varscan-mutect	NAV3,synonymous_variant,p.=,ENST00000397909,NM_001024383.1;NAV3,synonymous_variant,p.=,ENST00000536525,NM_014903.5;NAV3,downstream_gene_variant,,ENST00000549464,;RP11-136F16.1,downstream_gene_variant,,ENST00000549103,;	C	ENST00000397909	Transcript	synonymous_variant	2420/9821	2247/7158	749/2385	P	ccG/ccC	rs367740483,COSM196552	1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1			11/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784											0,1						LOW	1	SNV	1		0,1	1										PASS		rs367740483	.												C	2	2	81	78050878	78050878	G	C	1	0	0	0	0	0	0	0	1	10194	1074	38	4		4	NAV3	12	78050878	Silent	SNP	G	C3N-01489_TP	5431973	78050878	55224431	472	27018											
TMTC3	0	.	GRCh38	chr12	88148496	88148496	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgacttctggggaacccctAtgtctgaggtaagtaattac	11	12	10	8	0	2	2	0	2	2	0	2	3	2	3	2	3	2	2	2	3	5	5	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.181A>G	p.Met61Val	p.M61V	ENST00000266712	2/14	73	68	5	85	85	0	strelka-varscan-mutect	TMTC3,missense_variant,p.Met61Val,ENST00000266712,NM_181783.3;TMTC3,missense_variant,p.Met61Val,ENST00000551088,;TMTC3,missense_variant,p.Met61Val,ENST00000549011,;TMTC3,missense_variant,p.Met61Val,ENST00000547034,;	G	ENST00000266712	Transcript	missense_variant	401/7203	181/2745	61/914	M/V	Atg/Gtg		1		1	TMTC3	HGNC	HGNC:26899	protein_coding	YES	CCDS9032.1	ENSP00000266712	Q6ZXV5		UPI000004D255	NM_181783.3	deleterious(0)		2/14		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF419																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	88148496	88148496	A	G	1	0	0	0	0	1	0	0	0	16736	449	16	5		5	TMTC3	12	88148496	Missense_Mutation	SNP	A	C3N-01489_TP	10097618	88148496	45126813	473	27019											
ANO4	0	.	GRCh38	chr12	101126905	101126905	+	Frame_Shift_Del	DEL	C	C	-																															gtgttttgtataaagcacctCatttcatatctgatcccaga																								novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2703delC	p.Ile902PhefsTer4	p.I902Ffs*4	ENST00000392977	27/28	76	64	12	127	127	0	sindel-varindel-pindel	ANO4,frameshift_variant,p.Ile867PhefsTer4,ENST00000392979,NM_178826.3;ANO4,frameshift_variant,p.Ile902PhefsTer4,ENST00000392977,NM_001286615.1,NM_001286616.1;ANO4,frameshift_variant,p.Ile422PhefsTer4,ENST00000550015,;	-	ENST00000392977	Transcript	frameshift_variant	2913/3509	2703/2868	901/955	L/X	ctC/ct		1		1	ANO4	HGNC	HGNC:23837	protein_coding	YES	CCDS66445.1	ENSP00000376703	Q32M45		UPI0000577AB6	NM_001286615.1,NM_001286616.1			27/28		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Pfam_domain:PF04547																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	81	101126905	101126905	C	-	1	0	1	0	1	0	0	0	0	806	813	29	0		0	ANO4	12	101126905	Frame_Shift_Del	DEL	C	C3N-01489_TP	12978409	101126905	32148404	474	27020											
CKAP4	0	.	GRCh38	chr12	106247504	106247504	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagcggccgccgccacCagggcgaggtagaagagaaa	14	1	16	10	4	0	3	0	0	0	3	0	6	0	3	4	3	1	1	4	3	4	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.348G>T	p.=	p.L116L	ENST00000378026	1/2	199	188	11	246	244	2	strelka-varscan-mutect	CKAP4,synonymous_variant,p.=,ENST00000378026,NM_006825.3;CKAP4,intron_variant,,ENST00000553039,;RP11-651L5.3,upstream_gene_variant,,ENST00000611145,;RP11-651L5.2,upstream_gene_variant,,ENST00000552486,;CKAP4,intron_variant,,ENST00000552828,;	A	ENST00000378026	Transcript	synonymous_variant	485/3093	348/1809	116/602	L	ctG/ctT		1		-1	CKAP4	HGNC	HGNC:16991	protein_coding	YES	CCDS9103.1	ENSP00000367265	Q07065	A0A024RBH2	UPI00000723B9	NM_006825.3			1/2		hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF243,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	106247504	106247504	C	A	1	0	0	0	0	0	0	0	1	3207	581	21	2		2	CKAP4	12	106247504	Silent	SNP	C	C3N-01489_TP	5120599	106247504	27027805	475	27021											
DTX1	0	.	GRCh38	chr12	113077907	113077907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcgcgcttgccgtgcGccccagcgccaccttcacag	5	6	11	19	5	1	0	1	0	0	0	2	0	2	0	6	1	3	1	6	1	0	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.743G>T	p.Arg248Leu	p.R248L	ENST00000257600	2/9	31	20	11	29	29	0	strelka-varscan-mutect	DTX1,missense_variant,p.Arg248Leu,ENST00000257600,NM_004416.2;	T	ENST00000257600	Transcript	missense_variant	1246/3455	743/1863	248/620	R/L	cGc/cTc		1		1	DTX1	HGNC	HGNC:3060	protein_coding	YES	CCDS9164.1	ENSP00000257600	Q86Y01		UPI000013CF71	NM_004416.2	tolerated(0.33)		2/9		hmmpanther:PTHR12622:SF7,hmmpanther:PTHR12622																	MODERATE	1	SNV	1			1										PASS		rs1291880499	.												T	3	4	81	113077907	113077907	G	T	1	0	0	0	0	1	0	0	0	4616	1087	38	1		1	DTX1	12	113077907	Missense_Mutation	SNP	G	C3N-01489_TP	6830403	113077907	20197402	476	27022											
NOC4L	0	.	GRCh38	chr12	132152096	132152096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccaggccctccagcgcCactaccaccctgaggtgtcc	6	6	9	20	1	0	1	0	1	0	0	2	1	2	1	8	2	3	0	8	2	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1330C>A	p.His444Asn	p.H444N	ENST00000330579	14/15	137	122	15	183	183	0	strelka-mutect	NOC4L,missense_variant,p.His444Asn,ENST00000330579,NM_024078.2;NOC4L,downstream_gene_variant,,ENST00000541954,;NOC4L,downstream_gene_variant,,ENST00000535343,;NOC4L,non_coding_transcript_exon_variant,,ENST00000538784,;	A	ENST00000330579	Transcript	missense_variant	1371/1632	1330/1551	444/516	H/N	Cac/Aac		1		1	NOC4L	HGNC	HGNC:28461	protein_coding	YES	CCDS9277.1	ENSP00000328854	Q9BVI4		UPI00000723C4	NM_024078.2	deleterious(0)		14/15		Pfam_domain:PF03914,hmmpanther:PTHR12455,hmmpanther:PTHR12455:SF0,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	132152096	132152096	C	A	1	0	0	0	0	1	0	0	0	10557	594	21	2		2	NOC4L	12	132152096	Missense_Mutation	SNP	C	C3N-01489_TP	19074189	132152096	1123213	477	27023											
SACS	0	.	GRCh38	chr13	23338725	23338725	+	Frame_Shift_Del	DEL	T	T	-																															aatgctttggaagagcaggaTttttttttaattattactgt																								rs761184491,rs780648612		C3N-01489_TP	C3N-01489_NB	T	T																c.5151delA	p.Lys1717AsnfsTer8	p.K1717Nfs*8	ENST00000382292	9/9	49	35	14	115	114	1	sindel-varindel	SACS,frameshift_variant,p.Lys1717AsnfsTer8,ENST00000382292,NM_014363.5;SACS,frameshift_variant,p.Lys967AsnfsTer8,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	-	ENST00000382292	Transcript	frameshift_variant	5425/15324	5151/13740	1717/4579	K/X	aaA/aa	rs761184491,rs780648612,COSM1163668,COSM1163669	1		-1	SACS	HGNC	HGNC:10519	protein_coding	YES	CCDS9300.2	ENSP00000371729	Q9NZJ4		UPI000047039D	NM_014363.5			9/9		hmmpanther:PTHR15600,hmmpanther:PTHR15600:SF28											0,0,1,1						HIGH	1	deletion	5		0,0,1,1	1										PASS		.	.												-	7	5	81	23338725	23338725	T	-	1	0	1	0	1	0	0	0	0	14063	1490	52	0		0	SACS	13	23338725	Frame_Shift_Del	DEL	T	C3N-01489_TP		23338725	91025603	478	27024											
PARP4	0	.	GRCh38	chr13	24434697	24434697	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagagcctcaggtaaagCagaggccattggcagcctaa	14	5	12	10	0	1	2	1	0	0	2	1	2	1	2	3	3	3	4	3	3	4	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.4444G>T	p.Ala1482Ser	p.A1482S	ENST00000381989	31/34	147	130	17	192	190	2	strelka-varscan-mutect	PARP4,missense_variant,p.Ala1482Ser,ENST00000381989,NM_006437.3;TPTE2P6,intron_variant,,ENST00000445572,;	A	ENST00000381989	Transcript	missense_variant	4550/5474	4444/5175	1482/1724	A/S	Gct/Tct		1		-1	PARP4	HGNC	HGNC:271	protein_coding	YES	CCDS9307.1	ENSP00000371419	Q9UKK3		UPI000013C76E	NM_006437.3	tolerated(0.53)		31/34		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF112																	MODERATE	1	SNV	1			1										PASS		rs1451443767	.												A	3	1	81	24434697	24434697	C	A	1	0	0	0	0	1	0	0	0	11543	710	25	2		2	PARP4	13	24434697	Missense_Mutation	SNP	C	C3N-01489_TP	1095972	24434697	89929631	479	27025											
TEX26	0	.	GRCh38	chr13	30952698	30952698	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaggatatacatattcacTtagtgatcctattctcaatc	13	16	4	8	0	2	1	2	1	1	0	5	2	3	2	1	1	1	0	1	1	7	8	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.185T>A	p.Leu62His	p.L62H	ENST00000380473	3/7	106	89	17	211	211	0	strelka-varscan-mutect	TEX26,missense_variant,p.Leu62His,ENST00000380473,NM_152325.1;TEX26,upstream_gene_variant,,ENST00000530916,;TEX26,intron_variant,,ENST00000531960,;	A	ENST00000380473	Transcript	missense_variant	198/1478	185/870	62/289	L/H	cTt/cAt		1		1	TEX26	HGNC	HGNC:28622	protein_coding	YES	CCDS9339.1	ENSP00000369840	Q8N6G2		UPI0000070D41	NM_152325.1	deleterious(0)		3/7		hmmpanther:PTHR33769:SF1,hmmpanther:PTHR33769																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	30952698	30952698	T	A	1	0	0	0	0	1	0	0	0	16205	1609	56	4		4	TEX26	13	30952698	Missense_Mutation	SNP	T	C3N-01489_TP	6518001	30952698	83411630	480	27026											
DCLK1	0	.	GRCh38	chr13	35836121	35836121	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttattgtagctggaatctGgaagccttcctccgacactt	8	14	9	10	1	1	0	0	0	1	0	3	3	3	2	3	2	2	3	3	2	4	5	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1141C>T	p.Gln381Ter	p.Q381*	ENST00000255448	8/18	137	120	17	222	221	1	strelka-varscan-mutect	DCLK1,stop_gained,p.Gln381Ter,ENST00000360631,;DCLK1,stop_gained,p.Gln74Ter,ENST00000615680,NM_001195415.1;DCLK1,stop_gained,p.Gln381Ter,ENST00000255448,NM_004734.4;DCLK1,stop_gained,p.Gln74Ter,ENST00000379893,NM_001195416.1;	A	ENST00000255448	Transcript	stop_gained	1353/5703	1141/2190	381/729	Q/*	Cag/Tag		1		-1	DCLK1	HGNC	HGNC:2700	protein_coding	YES	CCDS9354.1	ENSP00000255448	O15075		UPI000002A7C2	NM_004734.4			8/18		hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF122,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	81	35836121	35836121	G	A	1	0	0	0	0	0	1	0	0	4093	1357	47	3		3	DCLK1	13	35836121	Nonsense_Mutation	SNP	G	C3N-01489_TP	4883423	35836121	78528207	481	27027											
RCBTB1	0	.	GRCh38	chr13	49560085	49560085	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggcataaaccactccatCtgtgcacacaaagcacacaa	16	5	5	15	0	1	0	0	0	1	0	2	0	2	0	3	1	3	3	3	1	4	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.278-1G>C		p.X93_splice	ENST00000378302		54	48	6	116	116	0	strelka-varscan-mutect	RCBTB1,splice_acceptor_variant,,ENST00000378302,NM_018191.3;RCBTB1,splice_acceptor_variant,,ENST00000258646,;	G	ENST00000378302	Transcript	splice_acceptor_variant	-/4033	278/1596	93/531				1		-1	RCBTB1	HGNC	HGNC:18243	protein_coding	YES	CCDS9418.1	ENSP00000367552	Q8NDN9		UPI000007181F	NM_018191.3				4/12																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	81	49560085	49560085	C	G	1	0	0	0	0	0	0	1	0	13340	927	32	4		4	RCBTB1	13	49560085	Splice_Site	SNP	C	C3N-01489_TP	13723964	49560085	64804243	482	27028											
THSD1	0	.	GRCh38	chr13	52378523	52378523	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactccccgtgggcccgtCtcccccatccgagaagctcc	5	7	10	19	3	1	1	0	0	1	1	5	3	4	2	7	2	1	1	7	2	1	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1447G>T	p.Asp483Tyr	p.D483Y	ENST00000258613	5/5	239	217	22	369	369	0	strelka-varscan-mutect	THSD1,missense_variant,p.Asp430Tyr,ENST00000349258,NM_199263.2;THSD1,missense_variant,p.Asp483Tyr,ENST00000258613,NM_018676.3;	A	ENST00000258613	Transcript	missense_variant	1626/2962	1447/2559	483/852	D/Y	Gac/Tac		1		-1	THSD1	HGNC	HGNC:17754	protein_coding	YES	CCDS9432.1	ENSP00000258613	Q9NS62	A0A024R064	UPI000007376D	NM_018676.3	deleterious(0)		5/5		Low_complexity_(Seg):seg,hmmpanther:PTHR16311																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	52378523	52378523	C	A	1	0	0	0	0	1	0	0	0	16311	913	32	2		2	THSD1	13	52378523	Missense_Mutation	SNP	C	C3N-01489_TP	2818438	52378523	61985805	483	27029											
PCDH17	0	.	GRCh38	chr13	57633451	57633451	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcgaccccaagaccggccTaatccgtgtgaagggcaatc	11	6	10	14	3	0	2	0	1	0	1	3	3	1	2	5	2	0	1	5	2	4	1	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.905T>A	p.Leu302Gln	p.L302Q	ENST00000377918	1/4	302	266	36	563	563	0	strelka-varscan-mutect	PCDH17,missense_variant,p.Leu302Gln,ENST00000377918,NM_001040429.2;PCDH17,upstream_gene_variant,,ENST00000612954,;PCDH17,upstream_gene_variant,,ENST00000615375,;RP11-95F22.1,non_coding_transcript_exon_variant,,ENST00000610846,;PCDH17,missense_variant,p.Leu302Gln,ENST00000484979,;	A	ENST00000377918	Transcript	missense_variant	1640/8232	905/3480	302/1159	L/Q	cTa/cAa		1		1	PCDH17	HGNC	HGNC:14267	protein_coding	YES	CCDS31986.1	ENSP00000367151	O14917		UPI00001FCE5B	NM_001040429.2	tolerated(0.08)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	57633451	57633451	T	A	1	0	0	0	0	1	0	0	0	11599	1522	53	4		4	PCDH17	13	57633451	Missense_Mutation	SNP	T	C3N-01489_TP	5254928	57633451	56730877	484	27030											
PCDH17	0	.	GRCh38	chr13	57633560	57633560	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccactgcaaagtcacGgtcaagctcatcgaccgcaa	12	5	8	16	3	3	0	3	0	0	0	4	1	3	0	3	1	3	3	3	1	3	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1014G>T	p.=	p.T338T	ENST00000377918	1/4	244	226	18	469	466	3	strelka-varscan-mutect	PCDH17,synonymous_variant,p.=,ENST00000377918,NM_001040429.2;PCDH17,upstream_gene_variant,,ENST00000612954,;PCDH17,upstream_gene_variant,,ENST00000615375,;RP11-95F22.1,non_coding_transcript_exon_variant,,ENST00000610846,;PCDH17,synonymous_variant,p.=,ENST00000484979,;	T	ENST00000377918	Transcript	synonymous_variant	1749/8232	1014/3480	338/1159	T	acG/acT		1		1	PCDH17	HGNC	HGNC:14267	protein_coding	YES	CCDS31986.1	ENSP00000367151	O14917		UPI00001FCE5B	NM_001040429.2			1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	57633560	57633560	G	T	1	0	0	0	0	0	0	0	1	11599	1103	39	1		1	PCDH17	13	57633560	Silent	SNP	G	C3N-01489_TP	109	57633560	56730768	485	27031											
RBM26	0	.	GRCh38	chr13	79371850	79371850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaactgctcacctattttcCctgtatcgggagcttgactg	7	14	9	11	1	1	2	1	2	0	0	3	3	2	3	2	1	3	3	2	1	3	5	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.408G>T	p.Arg136Ser	p.R136S	ENST00000622611	4/22	127	110	17	190	188	2	strelka-varscan-mutect	RBM26,missense_variant,p.Arg136Ser,ENST00000622611,NM_001286631.1;RBM26,missense_variant,p.Arg136Ser,ENST00000438724,NM_001286632.1;RBM26,missense_variant,p.Arg136Ser,ENST00000438737,;RBM26,missense_variant,p.Arg136Ser,ENST00000267229,NM_022118.4;RBM26,downstream_gene_variant,,ENST00000472143,;	A	ENST00000622611	Transcript	missense_variant	855/5230	408/3030	136/1009	R/S	agG/agT		1		-1	RBM26	HGNC	HGNC:20327	protein_coding	YES	CCDS73591.1	ENSP00000483408		A0A087X0H9	UPI00016378C8	NM_001286631.1	tolerated(1)		4/22		hmmpanther:PTHR14398,hmmpanther:PTHR14398:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	81	79371850	79371850	C	A	1	0	0	0	0	1	0	0	0	13292	622	22	2		2	RBM26	13	79371850	Missense_Mutation	SNP	C	C3N-01489_TP	21738290	79371850	34992478	486	27032											
GPC6	0	.	GRCh38	chr13	94027831	94027831	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaacaactactgtctcAacgtcatgaagggctgcttg	10	10	9	12	1	2	1	2	1	1	0	3	1	2	1	1	1	6	3	1	1	5	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.814A>G	p.Asn272Asp	p.N272D	ENST00000377047	4/9	279	237	42	443	443	0	strelka-varscan-mutect	GPC6,missense_variant,p.Asn272Asp,ENST00000377047,NM_005708.3;RNA5SP35,upstream_gene_variant,,ENST00000391257,;	G	ENST00000377047	Transcript	missense_variant	1429/6467	814/1668	272/555	N/D	Aac/Gac		1		1	GPC6	HGNC	HGNC:4454	protein_coding	YES	CCDS9469.1	ENSP00000366246	Q9Y625		UPI0000032F5B	NM_005708.3	deleterious(0)		4/9		Pfam_domain:PF01153,PROSITE_patterns:PS01207,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF31																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	94027831	94027831	A	G	1	0	0	0	0	1	0	0	0	6504	130	5	5		5	GPC6	13	94027831	Missense_Mutation	SNP	A	C3N-01489_TP	14655981	94027831	20336497	487	27033											
UBAC2	0	.	GRCh38	chr13	99244554	99244554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttttgtcagccttatttGactttctcctcattgaagct	6	18	8	9	0	3	2	2	2	1	0	4	2	3	2	2	1	2	2	2	1	2	6	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.319G>T	p.Asp107Tyr	p.D107Y	ENST00000403766	4/9	197	164	33	347	344	3	strelka-varscan-mutect	UBAC2,missense_variant,p.Asp107Tyr,ENST00000403766,NM_001144072.1;UBAC2,missense_variant,p.Asp113Tyr,ENST00000457666,;UBAC2,intron_variant,,ENST00000376440,NM_177967.3;UBAC2,intron_variant,,ENST00000355700,;UBAC2,non_coding_transcript_exon_variant,,ENST00000494576,;UBAC2,non_coding_transcript_exon_variant,,ENST00000468067,;UBAC2,non_coding_transcript_exon_variant,,ENST00000473091,;	T	ENST00000403766	Transcript	missense_variant	454/1375	319/1035	107/344	D/Y	Gac/Tac		1		1	UBAC2	HGNC	HGNC:20486	protein_coding	YES	CCDS45064.1	ENSP00000383911	Q8NBM4	A0A024RE02	UPI000003B0B4	NM_001144072.1	deleterious(0)		4/9		hmmpanther:PTHR12917:SF22,hmmpanther:PTHR12917,Superfamily_domains:SSF144091,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	81	99244554	99244554	G	T	1	0	0	0	0	1	0	0	0	17354	1290	45	2		2	UBAC2	13	99244554	Missense_Mutation	SNP	G	C3N-01489_TP	5216723	99244554	15119774	488	27034											
CCDC168	0	.	GRCh38	chr13	102746833	102746833	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagggtctccaatcagtgaTtttcctgatattggagaagg	12	12	11	6	0	2	3	1	2	1	1	4	4	3	3	2	3	0	0	2	3	4	4	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.3864A>T	p.Lys1288Asn	p.K1288N	ENST00000322527	4/4	190	172	18	332	332	0	strelka-varscan-mutect	CCDC168,missense_variant,p.Lys1288Asn,ENST00000322527,NM_001146197.1;LINC00283,downstream_gene_variant,,ENST00000430111,;	A	ENST00000322527	Transcript	missense_variant	4002/21466	3864/21246	1288/7081	K/N	aaA/aaT		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	tolerated(0.06)		4/4																			MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	81	102746833	102746833	T	A	1	0	0	0	0	1	0	0	0	2484	1490	52	4		4	CCDC168	13	102746833	Missense_Mutation	SNP	T	C3N-01489_TP	3502279	102746833	11617495	489	27035											
SLC10A2	0	.	GRCh38	chr13	103051326	103051326	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacccgccacaggaaatattGttcctataatccacagtttg	13	11	6	11	1	0	0	0	0	0	0	2	1	2	1	4	1	1	2	4	1	5	6			C3N-01489_TP	C3N-01489_NB	G	G																c.692C>G	p.Thr231Arg	p.T231R	ENST00000245312	4/6	322	288	34	464	464	0	strelka-varscan-mutect	SLC10A2,missense_variant,p.Thr231Arg,ENST00000245312,NM_000452.2;	C	ENST00000245312	Transcript	missense_variant	1289/3779	692/1047	231/348	T/R	aCa/aGa	COSM696098	1		-1	SLC10A2	HGNC	HGNC:10906	protein_coding	YES	CCDS9506.1	ENSP00000245312	Q12908		UPI000013CB9B	NM_000452.2	deleterious(0.04)		4/6		Transmembrane_helices:TMhelix,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF19,TIGRFAM_domain:TIGR00841											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	81	103051326	103051326	G	C	1	0	0	0	0	1	0	0	0	14639	1377	48	4		4	SLC10A2	13	103051326	Missense_Mutation	SNP	G	C3N-01489_TP	304493	103051326	11313002	490	27036											
COL4A1	0	.	GRCh38	chr13	110170556	110170556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccttacctggcaggcCaggctggccctgaggtccgc	5	7	14	15	1	0	1	0	1	0	0	1	2	1	1	5	5	2	2	5	5	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.3733G>T	p.Gly1245Cys	p.G1245C	ENST00000375820	42/52	222	189	33	374	374	0	strelka-varscan-mutect	COL4A1,missense_variant,p.Gly1245Cys,ENST00000375820,NM_001845.5;	A	ENST00000375820	Transcript	missense_variant	3855/6532	3733/5010	1245/1669	G/C	Ggc/Tgc		1		-1	COL4A1	HGNC	HGNC:2202	protein_coding	YES	CCDS9511.1	ENSP00000364979	P02462		UPI000004981D	NM_001845.5	deleterious(0)		42/52		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF543,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	110170556	110170556	C	A	1	0	0	0	0	1	0	0	0	3478	594	21	2		2	COL4A1	13	110170556	Missense_Mutation	SNP	C	C3N-01489_TP	7119230	110170556	4193772	491	27037											
OXA1L	0	.	GRCh38	chr14	22770276	22770276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcattctccctgtgactCaggtgagcaaaaacatttcc	10	12	6	13	0	3	2	2	2	2	0	6	2	4	2	2	1	2	1	2	1	2	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.847C>A	p.Gln283Lys	p.Q283K	ENST00000612549	5/10	171	157	14	263	263	0	strelka-mutect	OXA1L,missense_variant,p.Gln283Lys,ENST00000612549,;OXA1L,missense_variant,p.Gln207Lys,ENST00000358043,;OXA1L,missense_variant,p.Gln283Lys,ENST00000285848,NM_005015.3;OXA1L,missense_variant,p.Gln223Lys,ENST00000604262,;OXA1L,missense_variant,p.Gln223Lys,ENST00000412791,;OXA1L,missense_variant,p.Gln92Lys,ENST00000431881,;SLC7A7,downstream_gene_variant,,ENST00000397532,;SLC7A7,downstream_gene_variant,,ENST00000555702,NM_001126106.2;SLC7A7,downstream_gene_variant,,ENST00000285850,;SLC7A7,downstream_gene_variant,,ENST00000397528,NM_001126105.2;SLC7A7,downstream_gene_variant,,ENST00000397529,;SLC7A7,downstream_gene_variant,,ENST00000554517,;SLC7A7,downstream_gene_variant,,ENST00000556350,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554857,;CTD-2555K7.2,upstream_gene_variant,,ENST00000553792,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554730,;SLC7A7,downstream_gene_variant,,ENST00000554061,;OXA1L,splice_region_variant,,ENST00000442110,;OXA1L,non_coding_transcript_exon_variant,,ENST00000495424,;OXA1L,non_coding_transcript_exon_variant,,ENST00000481218,;OXA1L,non_coding_transcript_exon_variant,,ENST00000473744,;SLC7A7,downstream_gene_variant,,ENST00000556287,;OXA1L,downstream_gene_variant,,ENST00000483939,;SLC7A7,downstream_gene_variant,,ENST00000555678,;OXA1L,downstream_gene_variant,,ENST00000556473,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554194,;OXA1L,downstream_gene_variant,,ENST00000557299,;	A	ENST00000612549	Transcript	missense_variant,splice_region_variant	847/2971	847/1488	283/495	Q/K	Cag/Aag		1		1	OXA1L	HGNC	HGNC:8526	protein_coding	YES	CCDS9573.1	ENSP00000483491		J3KNA0	UPI000013DE11		deleterious(0)		5/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR12428:SF14,hmmpanther:PTHR12428,TIGRFAM_domain:TIGR03592,Pfam_domain:PF02096																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	22770276	22770276	C	A	1	0	0	0	0	1	0	0	0	11400	840	29	2		2	OXA1L	14	22770276	Missense_Mutation	SNP	C	C3N-01489_TP		22770276	84273442	492	27038											
STXBP6	0	.	GRCh38	chr14	24856092	24856092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaacaacaaatcaaactCtgccgaatcctggaaaagac	18	7	5	11	1	3	1	2	0	1	1	4	3	4	2	2	1	4	0	2	1	7	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.295G>A	p.Glu99Lys	p.E99K	ENST00000323944	4/6	52	45	7	94	94	0	strelka-varscan-mutect	STXBP6,missense_variant,p.Glu99Lys,ENST00000323944,;STXBP6,missense_variant,p.Glu99Lys,ENST00000396700,NM_001304476.1;STXBP6,missense_variant,p.Glu99Lys,ENST00000419632,NM_014178.7;STXBP6,missense_variant,p.Glu99Lys,ENST00000550887,;STXBP6,missense_variant,p.Glu99Lys,ENST00000546511,NM_001304477.1;STXBP6,3_prime_UTR_variant,,ENST00000548182,;	T	ENST00000323944	Transcript	missense_variant	747/4132	295/633	99/210	E/K	Gag/Aag		1		-1	STXBP6	HGNC	HGNC:19666	protein_coding	YES	CCDS9634.1	ENSP00000324302	Q8NFX7		UPI000006DD7D		deleterious(0.05)		4/6		Pfam_domain:PF15277,hmmpanther:PTHR16092,SMART_domains:SM01313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	24856092	24856092	C	T	1	0	0	0	0	1	0	0	0	15742	922	32	3		3	STXBP6	14	24856092	Missense_Mutation	SNP	C	C3N-01489_TP	2085816	24856092	82187626	493	27039											
NOVA1	0	.	GRCh38	chr14	26448087	26448087	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttccgattccttgtgcCaggtacgaattctccttttt	6	17	6	12	2	1	0	0	0	1	0	4	2	3	0	5	1	3	1	5	1	3	8	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1396G>T	p.Gly466Cys	p.G466C	ENST00000539517	5/5	359	330	29	522	521	1	strelka-varscan-mutect	NOVA1,missense_variant,p.Gly466Cys,ENST00000539517,NM_002515.2;NOVA1,missense_variant,p.Gly442Cys,ENST00000465357,NM_006489.2;NOVA1,downstream_gene_variant,,ENST00000549571,;NOVA1,downstream_gene_variant,,ENST00000449198,;NOVA1,downstream_gene_variant,,ENST00000549146,;NOVA1,downstream_gene_variant,,ENST00000347476,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,downstream_gene_variant,,ENST00000546546,;	A	ENST00000539517	Transcript	missense_variant	1714/3912	1396/1524	466/507	G/C	Ggc/Tgc		1		-1	NOVA1	HGNC	HGNC:7886	protein_coding	YES	CCDS32061.1	ENSP00000438875	P51513		UPI000013D74E	NM_002515.2	deleterious(0.02)		5/5		PROSITE_profiles:PS50084,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF150,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	26448087	26448087	C	A	1	0	0	0	0	1	0	0	0	10600	594	21	2		2	NOVA1	14	26448087	Missense_Mutation	SNP	C	C3N-01489_TP	1591995	26448087	80595631	494	27040											
NFKBIA	0	.	GRCh38	chr14	35403772	35403772	+	Missense_Mutation	SNP	T	T	A																															ccatggtcagtgccttttctTcatggatgatggccaagtgc																								novel		C3N-01489_TP	C3N-01489_NB	T	T																c.254A>T	p.Glu85Val	p.E85V	ENST00000216797	2/6	425	331	94	588	588	0	strelka-varscan-mutect	NFKBIA,missense_variant,p.Glu85Val,ENST00000216797,NM_020529.2;NFKBIA,missense_variant,p.Glu85Val,ENST00000557140,;NFKBIA,missense_variant,p.Glu61Val,ENST00000553342,;NFKBIA,5_prime_UTR_variant,,ENST00000557389,;NFKBIA,non_coding_transcript_exon_variant,,ENST00000557100,;NFKBIA,non_coding_transcript_exon_variant,,ENST00000557459,;NFKBIA,non_coding_transcript_exon_variant,,ENST00000555629,;NFKBIA,intron_variant,,ENST00000554001,;NFKBIA,upstream_gene_variant,,ENST00000555371,;NFKBIA,upstream_gene_variant,,ENST00000556664,;	A	ENST00000216797	Transcript	missense_variant	356/1558	254/954	85/317	E/V	gAa/gTa		1		-1	NFKBIA	HGNC	HGNC:7797	protein_coding	YES	CCDS9656.1	ENSP00000216797	P25963		UPI000004F0A9	NM_020529.2	deleterious(0.01)		2/6		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR24139,hmmpanther:PTHR24139:SF36,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	35403772	35403772	T	A	1	0	0	0	0	1	0	0	0	10414	1783	62	4		4	NFKBIA	14	35403772	Missense_Mutation	SNP	T	C3N-01489_TP	8955685	35403772	71639946	495	27041	573	2									
NFKBIA	0	.	GRCh38	chr14	35403773	35403773	+	Nonsense_Mutation	SNP	C	C	A																															catggtcagtgccttttcttCatggatgatggccaagtgca																								novel		C3N-01489_TP	C3N-01489_NB	C	C																c.253G>T	p.Glu85Ter	p.E85*	ENST00000216797	2/6	426	333	93	586	585	1	strelka-varscan-mutect	NFKBIA,stop_gained,p.Glu85Ter,ENST00000216797,NM_020529.2;NFKBIA,stop_gained,p.Glu85Ter,ENST00000557140,;NFKBIA,stop_gained,p.Glu61Ter,ENST00000553342,;NFKBIA,5_prime_UTR_variant,,ENST00000557389,;NFKBIA,non_coding_transcript_exon_variant,,ENST00000557100,;NFKBIA,non_coding_transcript_exon_variant,,ENST00000557459,;NFKBIA,non_coding_transcript_exon_variant,,ENST00000555629,;NFKBIA,intron_variant,,ENST00000554001,;NFKBIA,upstream_gene_variant,,ENST00000555371,;NFKBIA,upstream_gene_variant,,ENST00000556664,;	A	ENST00000216797	Transcript	stop_gained	355/1558	253/954	85/317	E/*	Gaa/Taa		1		-1	NFKBIA	HGNC	HGNC:7797	protein_coding	YES	CCDS9656.1	ENSP00000216797	P25963		UPI000004F0A9	NM_020529.2			2/6		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR24139,hmmpanther:PTHR24139:SF36,SMART_domains:SM00248,Superfamily_domains:SSF48403																	HIGH	1	SNV	1			1										PASS		rs1448839061	.												A	4	1	81	35403773	35403773	C	A	1	0	0	0	0	0	1	0	0	10414	835	29	2		2	NFKBIA	14	35403773	Nonsense_Mutation	SNP	C	C3N-01489_TP	1	35403773	71639945	496	27042	573	2									
PAX9	0	.	GRCh38	chr14	36676322	36676322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttctggttatgttgctgGacatgggtggcaacatgctg	6	14	13	8	0	1	0	0	0	1	0	2	1	2	1	1	4	3	5	1	4	2	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.896G>T	p.Gly299Val	p.G299V	ENST00000361487	4/4	440	389	51	568	568	0	strelka-varscan-mutect	PAX9,missense_variant,p.Gly299Val,ENST00000361487,;PAX9,missense_variant,p.Gly299Val,ENST00000402703,NM_006194.3;PAX9,3_prime_UTR_variant,,ENST00000554201,;SLC25A21,downstream_gene_variant,,ENST00000331299,NM_030631.3;SLC25A21,downstream_gene_variant,,ENST00000555449,NM_001171170.1;PAX9,non_coding_transcript_exon_variant,,ENST00000557107,;	T	ENST00000361487	Transcript	missense_variant	1121/4514	896/1026	299/341	G/V	gGa/gTa		1		1	PAX9	HGNC	HGNC:8623	protein_coding	YES	CCDS9662.1	ENSP00000355245	P55771	Q2L4T1	UPI0000131377		deleterious_low_confidence(0)		4/4																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	36676322	36676322	G	T	1	0	0	0	0	1	0	0	0	11571	1174	41	2		2	PAX9	14	36676322	Missense_Mutation	SNP	G	C3N-01489_TP	1272549	36676322	70367396	497	27043											
FANCM	0	.	GRCh38	chr14	45159138	45159138	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgatgagacccgagttaTgatcttctcttcatttcgag	9	14	9	9	3	3	3	1	3	2	1	5	6	3	3	1	0	0	1	1	0	1	4	rs776804525		C3N-01489_TP	C3N-01489_NB	T	T																c.1439T>C	p.Met480Thr	p.M480T	ENST00000267430	9/23	155	141	14	248	248	0	strelka-varscan-mutect	FANCM,missense_variant,p.Met480Thr,ENST00000267430,NM_020937.2;FANCM,missense_variant,p.Met454Thr,ENST00000542564,NM_001308133.1;FANCM,missense_variant,p.Met65Thr,ENST00000556250,;FANCM,missense_variant,p.Met480Thr,ENST00000556036,NM_001308134.1;	C	ENST00000267430	Transcript	missense_variant	1524/7111	1439/6147	480/2048	M/T	aTg/aCg	rs776804525,COSM4569002	1		1	FANCM	HGNC	HGNC:23168	protein_coding	YES	CCDS32070.1	ENSP00000267430	Q8IYD8		UPI000059F032	NM_020937.2	deleterious(0)		9/23		PROSITE_profiles:PS51194,hmmpanther:PTHR14025:SF20,hmmpanther:PTHR14025,Pfam_domain:PF00271,Gene3D:3.40.50.300,Superfamily_domains:SSF52540											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs776804525	.												C	3	2	81	45159138	45159138	T	C	1	0	0	0	0	1	0	0	0	5531	1464	51	5		5	FANCM	14	45159138	Missense_Mutation	SNP	T	C3N-01489_TP	8482816	45159138	61884580	498	27044											
PYGL	0	.	GRCh38	chr14	50910044	50910044	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgaacttcatattgcctgtCcccgaggcttcggtgcctgc	6	12	10	13	2	1	1	1	1	0	0	3	2	2	1	4	2	4	1	4	2	2	4	rs772998983		C3N-01489_TP	C3N-01489_NB	C	C																c.2028G>C	p.=	p.G676G	ENST00000216392	17/20	329	305	24	458	458	0	strelka-varscan-mutect	PYGL,synonymous_variant,p.=,ENST00000216392,NM_002863.4;PYGL,synonymous_variant,p.=,ENST00000532462,;PYGL,synonymous_variant,p.=,ENST00000544180,NM_001163940.1;RP11-218E20.5,upstream_gene_variant,,ENST00000557343,;PYGL,non_coding_transcript_exon_variant,,ENST00000532107,;	G	ENST00000216392	Transcript	synonymous_variant	2361/3048	2028/2544	676/847	G	ggG/ggC	rs772998983,COSM5126032	1		-1	PYGL	HGNC	HGNC:9725	protein_coding	YES	CCDS32080.1	ENSP00000216392	P06737		UPI000011136E	NM_002863.4			17/20		hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF12,PROSITE_patterns:PS00102,TIGRFAM_domain:TIGR02093,Gene3D:3.40.50.2000,Pfam_domain:PF00343,PIRSF_domain:PIRSF000460,Superfamily_domains:SSF53756											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												G	2	3	81	50910044	50910044	C	G	1	0	0	0	0	0	0	0	1	13015	842	30	4		4	PYGL	14	50910044	Silent	SNP	C	C3N-01489_TP	5750906	50910044	56133674	499	27045											
PYGL	0	.	GRCh38	chr14	50915936	50915936	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgggagcactgtgtggttGgtgtaggcgaaggtcttctg	5	12	17	7	2	2	0	0	0	2	0	3	2	3	1	1	5	1	3	1	5	2	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1128C>A	p.=	p.T376T	ENST00000216392	10/20	199	168	31	296	296	0	strelka-varscan-mutect	PYGL,synonymous_variant,p.=,ENST00000216392,NM_002863.4;PYGL,synonymous_variant,p.=,ENST00000532462,;PYGL,synonymous_variant,p.=,ENST00000544180,NM_001163940.1;RP11-218E20.5,downstream_gene_variant,,ENST00000557343,;PYGL,non_coding_transcript_exon_variant,,ENST00000528757,;PYGL,downstream_gene_variant,,ENST00000553872,;PYGL,upstream_gene_variant,,ENST00000532107,;	T	ENST00000216392	Transcript	synonymous_variant	1461/3048	1128/2544	376/847	T	acC/acA		1		-1	PYGL	HGNC	HGNC:9725	protein_coding	YES	CCDS32080.1	ENSP00000216392	P06737		UPI000011136E	NM_002863.4			10/20		hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF12,TIGRFAM_domain:TIGR02093,Gene3D:3.40.50.2000,Pfam_domain:PF00343,PIRSF_domain:PIRSF000460,Superfamily_domains:SSF53756																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	50915936	50915936	G	T	1	0	0	0	0	0	0	0	1	13015	1335	47	2		2	PYGL	14	50915936	Silent	SNP	G	C3N-01489_TP	5892	50915936	56127782	500	27046											
NID2	0	.	GRCh38	chr14	52068025	52068025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgtcctctcggtacaGgactcggcctctgccgtggc	4	9	15	13	3	2	0	0	0	2	0	5	2	3	2	3	6	2	1	3	6	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.367C>A	p.Leu123Met	p.L123M	ENST00000216286	2/22	110	104	6	180	180	0	strelka-varscan-mutect	NID2,missense_variant,p.Leu123Met,ENST00000216286,NM_007361.3;NID2,missense_variant,p.Leu123Met,ENST00000617139,;	T	ENST00000216286	Transcript	missense_variant	367/4811	367/4128	123/1375	L/M	Ctg/Atg		1		-1	NID2	HGNC	HGNC:13389	protein_coding	YES	CCDS9706.1	ENSP00000216286	Q14112		UPI000013C6E1	NM_007361.3	deleterious(0.03)		2/22		PROSITE_profiles:PS51220,SMART_domains:SM00539																	MODERATE	1	SNV	1			1										PASS		rs1344195019	.												T	3	4	81	52068025	52068025	G	T	1	0	0	0	0	1	0	0	0	10448	1014	35	2		2	NID2	14	52068025	Missense_Mutation	SNP	G	C3N-01489_TP	1152089	52068025	54975693	501	27047											
C14orf37	0	.	GRCh38	chr14	58138739	58138739	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttagtattcacataggatGaaggtgaatgtcccaaacca	14	10	8	9	0	1	2	1	2	0	0	2	3	2	3	3	2	1	1	3	2	6	4	rs762869222		C3N-01489_TP	C3N-01489_NB	G	G																c.620C>A	p.Ser207Ter	p.S207*	ENST00000267485	2/8	226	211	15	376	375	1	strelka-varscan-mutect	C14orf37,stop_gained,p.Ser207Ter,ENST00000267485,NM_001001872.2;C14orf37,non_coding_transcript_exon_variant,,ENST00000334342,;C14orf37,non_coding_transcript_exon_variant,,ENST00000557175,;C14orf37,downstream_gene_variant,,ENST00000554218,;UBA52P3,upstream_gene_variant,,ENST00000491303,;	T	ENST00000267485	Transcript	stop_gained	815/6495	620/2325	207/774	S/*	tCa/tAa	rs762869222	1		-1	C14orf37	HGNC	HGNC:19846	protein_coding	YES	CCDS32089.1	ENSP00000267485	Q86TY3		UPI000000CC37	NM_001001872.2			2/8		hmmpanther:PTHR21585,hmmpanther:PTHR21585:SF0,Pfam_domain:PF15767																	HIGH	1	SNV	1			1										PASS		rs762869222	.												T	4	4	81	58138739	58138739	G	T	1	0	0	0	0	0	1	0	0	1838	1294	45	2		2	C14orf37	14	58138739	Nonsense_Mutation	SNP	G	C3N-01489_TP	6070714	58138739	48904979	502	27048											
SYNE2	0	.	GRCh38	chr14	63949853	63949853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgcccagactctttcttGcaattacaatcagccttccc	8	13	5	15	0	3	1	1	0	2	1	4	1	4	1	3	0	4	2	3	0	3	5	rs762685285		C3N-01489_TP	C3N-01489_NB	G	G																c.437G>T	p.Cys146Phe	p.C146F	ENST00000358025	7/116	260	230	30	395	395	0	strelka-varscan-mutect	SYNE2,missense_variant,p.Cys146Phe,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Cys146Phe,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Cys146Phe,ENST00000357395,;SYNE2,missense_variant,p.Cys146Phe,ENST00000554584,;SYNE2,missense_variant,p.Cys146Phe,ENST00000341472,;	T	ENST00000358025	Transcript	missense_variant	649/21842	437/20724	146/6907	C/F	tGc/tTc	rs762685285	1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2	tolerated(0.12)		7/116		hmmpanther:PTHR11915:SF317,hmmpanther:PTHR11915																	MODERATE	1	SNV	5			1										PASS		rs762685285	.												T	3	4	81	63949853	63949853	G	T	1	0	0	0	0	1	0	0	0	15838	1319	46	2		2	SYNE2	14	63949853	Missense_Mutation	SNP	G	C3N-01489_TP	5811114	63949853	43093865	503	27049											
SPTB	0	.	GRCh38	chr14	64793503	64793503	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccactgtgccgacacCtcctttatgcgggcctcgat	5	11	10	15	3	0	0	0	0	0	0	3	2	2	0	5	2	2	0	5	2	1	2			C3N-01489_TP	C3N-01489_NB	C	C																c.2160G>T	p.Glu720Asp	p.E720D	ENST00000556626	14/36	433	393	40	703	703	0	strelka-varscan-mutect	SPTB,missense_variant,p.Glu720Asp,ENST00000556626,;SPTB,missense_variant,p.Glu720Asp,ENST00000389722,NM_001024858.2;SPTB,missense_variant,p.Glu720Asp,ENST00000389721,NM_000347.5;SPTB,missense_variant,p.Glu720Asp,ENST00000389720,;	A	ENST00000556626	Transcript	missense_variant	2303/10153	2160/6987	720/2328	E/D	gaG/gaT	COSM4535158,COSM4535159	1		-1	SPTB	HGNC	HGNC:11274	protein_coding	YES	CCDS32099.1	ENSP00000451752	P11277		UPI000053030D		tolerated(0.47)		14/36		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF248,PIRSF_domain:PIRSF002297,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	81	64793503	64793503	C	A	1	0	0	0	0	1	0	0	0	15474	680	24	2		2	SPTB	14	64793503	Missense_Mutation	SNP	C	C3N-01489_TP	843650	64793503	42250215	504	27050											
GPHN	0	.	GRCh38	chr14	66776472	66776472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctaatttcaggttgggtgGgactatatcagcatacaaga	12	12	10	7	0	2	1	2	0	0	1	3	2	3	2	1	3	2	2	1	3	5	6	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.152G>T	p.Gly51Val	p.G51V	ENST00000478722	3/23	180	165	15	265	265	0	strelka-varscan-mutect	GPHN,missense_variant,p.Gly51Val,ENST00000478722,NM_020806.4;GPHN,missense_variant,p.Gly51Val,ENST00000315266,NM_001024218.1;GPHN,missense_variant,p.Gly51Val,ENST00000543237,;GPHN,missense_variant,p.Gly51Val,ENST00000459628,;GPHN,non_coding_transcript_exon_variant,,ENST00000556020,;GPHN,3_prime_UTR_variant,,ENST00000553936,;GPHN,3_prime_UTR_variant,,ENST00000555668,;GPHN,3_prime_UTR_variant,,ENST00000557654,;GPHN,intron_variant,,ENST00000556633,;	T	ENST00000478722	Transcript	missense_variant	1273/4297	152/2310	51/769	G/V	gGg/gTg		1		1	GPHN	HGNC	HGNC:15465	protein_coding	YES	CCDS9777.1	ENSP00000417901	Q9NQX3		UPI0000072592	NM_020806.4	tolerated(0.28)		3/23		Gene3D:3.40.980.10,Pfam_domain:PF00994,hmmpanther:PTHR10192,SMART_domains:SM00852,Superfamily_domains:SSF53218,TIGRFAM_domain:TIGR00177																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	66776472	66776472	G	T	1	0	0	0	0	1	0	0	0	6512	1232	43	2		2	GPHN	14	66776472	Missense_Mutation	SNP	G	C3N-01489_TP	1982969	66776472	40267246	505	27051											
GALNT16	0	.	GRCh38	chr14	69260395	69260395	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcccacgcagcatcctcCggcggccggggcgcgcagag	6	2	16	17	7	0	1	0	0	0	1	2	2	2	1	4	4	2	3	4	4	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.105C>T	p.=	p.S35S	ENST00000337827	1/16	309	278	31	420	420	0	strelka-varscan-mutect	GALNT16,synonymous_variant,p.=,ENST00000337827,NM_001168368.1,NM_020692.2;GALNT16,synonymous_variant,p.=,ENST00000448469,;GALNT16,synonymous_variant,p.=,ENST00000553669,;RP11-363J20.2,non_coding_transcript_exon_variant,,ENST00000556316,;GALNT16,non_coding_transcript_exon_variant,,ENST00000555920,;GALNT16,non_coding_transcript_exon_variant,,ENST00000554317,;GALNT16,downstream_gene_variant,,ENST00000554858,;GALNT16,synonymous_variant,p.=,ENST00000553471,;	T	ENST00000337827	Transcript	synonymous_variant	432/5708	105/1677	35/558	S	tcC/tcT		1		1	GALNT16	HGNC	HGNC:23233	protein_coding	YES	CCDS32107.1	ENSP00000336729	Q8N428	Q68VJ8	UPI000004D296	NM_001168368.1,NM_020692.2			1/16		Low_complexity_(Seg):seg,hmmpanther:PTHR11675:SF3,hmmpanther:PTHR11675																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	69260395	69260395	C	T	1	0	0	0	0	0	0	0	1	6082	639	23	1		1	GALNT16	14	69260395	Silent	SNP	C	C3N-01489_TP	2483923	69260395	37783323	506	27052											
SIPA1L1	0	.	GRCh38	chr14	71588566	71588566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaagggctacaaagatGacaaatctgatcgaggtcca	15	9	10	7	1	1	3	0	2	1	1	3	4	2	3	1	2	1	2	1	2	5	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.694G>T	p.Asp232Tyr	p.D232Y	ENST00000555818	2/22	251	233	18	424	423	1	strelka-varscan-mutect	SIPA1L1,missense_variant,p.Asp232Tyr,ENST00000555818,NM_015556.2,NM_001284247.1;SIPA1L1,missense_variant,p.Asp232Tyr,ENST00000358550,NM_001284246.1;SIPA1L1,missense_variant,p.Asp232Tyr,ENST00000381232,NM_001284245.1;SIPA1L1,downstream_gene_variant,,ENST00000557151,;SIPA1L1,downstream_gene_variant,,ENST00000555989,;SIPA1L1,downstream_gene_variant,,ENST00000554362,;SIPA1L1,downstream_gene_variant,,ENST00000555652,;	T	ENST00000555818	Transcript	missense_variant	1042/7831	694/5415	232/1804	D/Y	Gac/Tac		1		1	SIPA1L1	HGNC	HGNC:20284	protein_coding	YES	CCDS9807.1	ENSP00000450832	O43166		UPI00000443CB	NM_015556.2,NM_001284247.1	deleterious(0.01)		2/22		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	71588566	71588566	G	T	1	0	0	0	0	1	0	0	0	14592	1290	45	2		2	SIPA1L1	14	71588566	Missense_Mutation	SNP	G	C3N-01489_TP	2328171	71588566	35455152	507	27053											
ESRRB	0	.	GRCh38	chr14	76482048	76482048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgagtgcgtggaggccgtCagaaatacaagcgacggctg	11	6	15	9	5	1	1	1	0	0	1	2	4	1	2	1	3	3	1	1	3	3	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.547C>A	p.Gln183Lys	p.Q183K	ENST00000509242	4/9	396	350	46	669	665	4	strelka-varscan-mutect	ESRRB,missense_variant,p.Gln183Lys,ENST00000509242,;ESRRB,missense_variant,p.Gln183Lys,ENST00000380887,NM_004452.3;ESRRB,missense_variant,p.Gln188Lys,ENST00000512784,;ESRRB,missense_variant,p.Gln183Lys,ENST00000556177,;ESRRB,non_coding_transcript_exon_variant,,ENST00000507951,;ESRRB,missense_variant,p.Gln183Lys,ENST00000505752,;	A	ENST00000509242	Transcript	missense_variant	755/2849	547/1527	183/508	Q/K	Cag/Aag		1		1	ESRRB	HGNC	HGNC:3473	protein_coding	YES	CCDS9850.2	ENSP00000422488	O95718		UPI000003157B		deleterious(0)		4/9		Gene3D:1.10.565.10,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF23,Superfamily_domains:SSF48508,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	76482048	76482048	C	A	1	0	0	0	0	1	0	0	0	5123	827	29	2		2	ESRRB	14	76482048	Missense_Mutation	SNP	C	C3N-01489_TP	4893482	76482048	30561670	508	27054											
TMEM63C	0	.	GRCh38	chr14	77253377	77253377	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacgcccacctccctcGtgagtcctgagtcccaggga	6	7	9	19	2	0	2	0	2	0	0	5	3	4	3	7	1	0	0	7	1	0	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2220+1G>T		p.X740_splice	ENST00000298351		208	180	28	277	277	0	strelka-varscan-mutect	TMEM63C,splice_donor_variant,,ENST00000298351,NM_020431.3;TMEM63C,splice_donor_variant,,ENST00000557504,;	T	ENST00000298351	Transcript	splice_donor_variant	-/5334	2220/2421	740/806				1		1	TMEM63C	HGNC	HGNC:23787	protein_coding	YES	CCDS45141.1	ENSP00000298351	Q9P1W3	A0A024R6B3	UPI0000049C5C	NM_020431.3				23/23																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	81	77253377	77253377	G	T	1	0	0	0	0	0	0	1	0	16668	1159	40	1		1	TMEM63C	14	77253377	Splice_Site	SNP	G	C3N-01489_TP	771329	77253377	29790341	509	27055											
ADCK1	0	.	GRCh38	chr14	77899230	77899230	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgctgagaaggtgtcccAgatgctcaggcattttgact	10	11	12	8	0	1	3	1	2	0	2	2	5	2	3	1	2	2	3	1	2	2	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.713A>T	p.Gln238Leu	p.Q238L	ENST00000238561	6/11	119	104	15	214	214	0	strelka-varscan-mutect	ADCK1,missense_variant,p.Gln238Leu,ENST00000238561,NM_020421.3;ADCK1,missense_variant,p.Gln170Leu,ENST00000341211,NM_001142545.1;ADCK1,missense_variant,p.Gln238Leu,ENST00000557501,;ADCK1,upstream_gene_variant,,ENST00000555333,;ADCK1,missense_variant,p.Gln185Leu,ENST00000393639,;	T	ENST00000238561	Transcript	missense_variant	812/2234	713/1572	238/523	Q/L	cAg/cTg		1		1	ADCK1	HGNC	HGNC:19038	protein_coding	YES	CCDS9869.1	ENSP00000238561	Q86TW2		UPI000014035F	NM_020421.3	tolerated(0.07)		6/11		Gene3D:3.90.1200.10,Pfam_domain:PF03109,hmmpanther:PTHR10566,hmmpanther:PTHR10566:SF58,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	77899230	77899230	A	T	1	0	0	0	0	1	0	0	0	331	188	7	4		4	ADCK1	14	77899230	Missense_Mutation	SNP	A	C3N-01489_TP	645853	77899230	29144488	510	27056											
GOLGA5	0	.	GRCh38	chr14	92833208	92833208	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagactctcatccagaaacaGaccatgctggagagtctcag	13	7	10	11	0	2	4	2	0	2	4	5	6	3	4	2	1	2	1	2	1	1	0			C3N-01489_TP	C3N-01489_NB	G	G																c.1806G>C	p.Gln602His	p.Q602H	ENST00000163416	10/13	312	285	27	429	429	0	strelka-varscan-mutect	GOLGA5,missense_variant,p.Gln602His,ENST00000163416,NM_005113.3;GOLGA5,missense_variant,p.Gln28His,ENST00000554700,;	C	ENST00000163416	Transcript	missense_variant	2062/2969	1806/2196	602/731	Q/H	caG/caC	COSM5382894	1		1	GOLGA5	HGNC	HGNC:4428	protein_coding	YES	CCDS9905.1	ENSP00000163416	Q8TBA6		UPI000013C5AA	NM_005113.3	deleterious(0)		10/13		Pfam_domain:PF09787,hmmpanther:PTHR13815,hmmpanther:PTHR13815:SF5											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	81	92833208	92833208	G	C	1	0	0	0	0	1	0	0	0	6434	933	33	4		4	GOLGA5	14	92833208	Missense_Mutation	SNP	G	C3N-01489_TP	14933978	92833208	14210510	511	27057											
DICER1	0	.	GRCh38	chr14	95105100	95105101	+	Frame_Shift_Ins	INS	-	-	A																															caggaagtgatctgactcccINSacgccagcatcgctggcagt																								novel		C3N-01489_TP	C3N-01489_NB	-	-																c.3239dupT	p.Val1082SerfsTer9	p.V1082Sfs*9	ENST00000526495	22/29	189	175	14	310	309	1	varindel-pindel	DICER1,frameshift_variant,p.Val1082SerfsTer9,ENST00000526495,NM_030621.4,NM_001291628.1;DICER1,frameshift_variant,p.Val1082SerfsTer9,ENST00000343455,NM_177438.2;DICER1,frameshift_variant,p.Val1082SerfsTer9,ENST00000393063,;DICER1,frameshift_variant,p.Val1082SerfsTer9,ENST00000527414,NM_001271282.2;DICER1,frameshift_variant,p.Val1082SerfsTer9,ENST00000541352,NM_001195573.1;DICER1,frameshift_variant,p.Trp4LeufsTer12,ENST00000556045,;DICER1,upstream_gene_variant,,ENST00000532939,;DICER1,non_coding_transcript_exon_variant,,ENST00000554367,;DICER1,downstream_gene_variant,,ENST00000556681,;	A	ENST00000526495	Transcript	frameshift_variant	3531-3532/10331	3239-3240/5769	1080/1922	V/VX	gtg/gtTg		1		-1	DICER1	HGNC	HGNC:17098	protein_coding	YES	CCDS9931.1	ENSP00000437256	Q9UPY3		UPI0000168662	NM_030621.4,NM_001291628.1			22/29		hmmpanther:PTHR14950,hmmpanther:PTHR14950:SF26																	HIGH	1	insertion	5			1										PASS		.	.												A	7	5	81	95105100	95105100	-	A	1	0	1	1	0	0	0	0	0	4325	595	21	0		0	DICER1	14	95105100	Frame_Shift_Ins	INS	-	C3N-01489_TP	2271892	95105100	11938618	512	27058											
CLMN	0	.	GRCh38	chr14	95203457	95203457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctccggagtcctgatgaGgttcatgtttgtccatctta	6	16	9	10	1	3	2	1	2	2	0	6	3	5	3	3	2	0	2	3	2	1	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1892C>T	p.Pro631Leu	p.P631L	ENST00000298912	9/13	236	219	17	366	366	0	strelka-varscan-mutect	CLMN,missense_variant,p.Pro631Leu,ENST00000298912,NM_024734.3;CLMN,non_coding_transcript_exon_variant,,ENST00000556454,;RP11-725G5.3,downstream_gene_variant,,ENST00000555482,;	A	ENST00000298912	Transcript	missense_variant	2006/12747	1892/3009	631/1002	P/L	cCt/cTt		1		-1	CLMN	HGNC	HGNC:19972	protein_coding	YES	CCDS9933.1	ENSP00000298912	Q96JQ2		UPI000006DB99	NM_024734.3	tolerated_low_confidence(0.08)		9/13																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	95203457	95203457	G	A	1	0	0	0	0	1	0	0	0	3311	1000	35	3		3	CLMN	14	95203457	Missense_Mutation	SNP	G	C3N-01489_TP	98357	95203457	11840261	513	27059											
SYNE3	0	.	GRCh38	chr14	95439711	95439711	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctccggagaagacttcTccatcaccagccagccctgc	9	6	7	19	1	2	2	1	0	1	2	4	3	3	2	6	1	3	0	6	1	1	1	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.2147A>T	p.Glu716Val	p.E716V	ENST00000334258	12/17	188	171	17	296	296	0	strelka-varscan-mutect	SYNE3,missense_variant,p.Glu716Val,ENST00000557275,;SYNE3,missense_variant,p.Glu716Val,ENST00000334258,NM_152592.3;SYNE3,missense_variant,p.Glu473Val,ENST00000554873,;SYNE3,downstream_gene_variant,,ENST00000553340,;SYNE3,non_coding_transcript_exon_variant,,ENST00000555759,;	A	ENST00000334258	Transcript	missense_variant	2162/3275	2147/2928	716/975	E/V	gAg/gTg		1		-1	SYNE3	HGNC	HGNC:19861	protein_coding	YES	CCDS9935.1	ENSP00000334308	Q6ZMZ3		UPI0000246F54	NM_152592.3	deleterious(0.01)		12/17		Pfam_domain:PF00435,hmmpanther:PTHR11915,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	95439711	95439711	T	A	1	0	0	0	0	1	0	0	0	15839	1551	54	4		4	SYNE3	14	95439711	Missense_Mutation	SNP	T	C3N-01489_TP	236254	95439711	11604007	514	27060											
SYNE3	0	.	GRCh38	chr14	95466010	95466010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgctggggtccccgatcCtgttgaacagggaggctgcc	6	7	14	14	2	0	1	0	1	0	0	2	3	2	2	5	4	2	3	5	4	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.548G>T	p.Arg183Met	p.R183M	ENST00000334258	3/17	79	71	8	105	105	0	strelka-varscan-mutect	SYNE3,missense_variant,p.Arg183Met,ENST00000557275,;SYNE3,missense_variant,p.Arg183Met,ENST00000334258,NM_152592.3;SYNE3,missense_variant,p.Arg183Met,ENST00000553340,;SYNE3,non_coding_transcript_exon_variant,,ENST00000555759,;	A	ENST00000334258	Transcript	missense_variant	563/3275	548/2928	183/975	R/M	aGg/aTg		1		-1	SYNE3	HGNC	HGNC:19861	protein_coding	YES	CCDS9935.1	ENSP00000334308	Q6ZMZ3		UPI0000246F54	NM_152592.3	deleterious(0.02)		3/17		Gene3D:1.20.58.60,hmmpanther:PTHR11915,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	95466010	95466010	C	A	1	0	0	0	0	1	0	0	0	15839	681	24	2		2	SYNE3	14	95466010	Missense_Mutation	SNP	C	C3N-01489_TP	26299	95466010	11577708	515	27061											
BDKRB1	0	.	GRCh38	chr14	96264336	96264336	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctaccactggctgcgatCgtcttcttcaactaccacat	8	12	5	16	2	3	0	1	0	2	0	5	1	4	0	3	1	4	1	3	1	3	4	rs753420449		C3N-01489_TP	C3N-01489_NB	C	C																c.654C>T	p.=	p.I218I	ENST00000216629	3/3	284	251	33	448	448	0	strelka-varscan-mutect	BDKRB1,synonymous_variant,p.=,ENST00000216629,NM_000710.3;BDKRB1,synonymous_variant,p.=,ENST00000553356,;BDKRB1,synonymous_variant,p.=,ENST00000611804,;RP11-404P21.8,downstream_gene_variant,,ENST00000553811,;RP11-404P21.3,intron_variant,,ENST00000553638,;BDKRB1,upstream_gene_variant,,ENST00000557122,;RP11-404P21.8,downstream_gene_variant,,ENST00000555847,;	T	ENST00000216629	Transcript	synonymous_variant	1260/1687	654/1062	218/353	I	atC/atT	rs753420449,COSM3886668	1		1	BDKRB1	HGNC	HGNC:1029	protein_coding	YES	CCDS9943.1	ENSP00000216629	P46663		UPI0000000348	NM_000710.3			3/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF28,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00425,Prints_domain:PR00237											0,1						LOW	1	SNV	1		0,1	1										PASS		rs753420449	.												T	2	4	81	96264336	96264336	C	T	1	0	0	0	0	0	0	0	1	1539	874	31	1		1	BDKRB1	14	96264336	Silent	SNP	C	C3N-01489_TP	798326	96264336	10779382	516	27062											
DYNC1H1	0	.	GRCh38	chr14	102002876	102002876	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaacatccagggagtacaGaggtctctggaaagattggc	12	8	13	8	0	1	3	0	1	1	2	3	5	2	5	1	4	2	1	1	4	3	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.4794G>A	p.=	p.Q1598Q	ENST00000360184	23/78	233	205	28	418	418	0	strelka-varscan-mutect	DYNC1H1,synonymous_variant,p.=,ENST00000360184,NM_001376.4;	A	ENST00000360184	Transcript	synonymous_variant	4958/14333	4794/13941	1598/4646	Q	caG/caA		1		1	DYNC1H1	HGNC	HGNC:2961	protein_coding	YES	CCDS9966.1	ENSP00000348965	Q14204		UPI00001B515A	NM_001376.4			23/78		Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF28																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	102002876	102002876	G	A	1	0	0	0	0	0	0	0	1	4665	933	33	3		3	DYNC1H1	14	102002876	Silent	SNP	G	C3N-01489_TP	5738540	102002876	5040842	517	27063											
DYNC1H1	0	.	GRCh38	chr14	102016072	102016072	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatgcagatcgagcagctgGagcgctacattcaggtcagg	10	7	13	11	2	2	1	2	0	0	1	3	3	2	2	1	3	5	4	1	3	1	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.7459G>T	p.Glu2487Ter	p.E2487*	ENST00000360184	36/78	165	145	20	222	222	0	strelka-varscan-mutect	DYNC1H1,stop_gained,p.Glu2487Ter,ENST00000360184,NM_001376.4;DYNC1H1,upstream_gene_variant,,ENST00000555204,;	T	ENST00000360184	Transcript	stop_gained	7623/14333	7459/13941	2487/4646	E/*	Gag/Tag		1		1	DYNC1H1	HGNC	HGNC:2961	protein_coding	YES	CCDS9966.1	ENSP00000348965	Q14204		UPI00001B515A	NM_001376.4			36/78		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF28																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	81	102016072	102016072	G	T	1	0	0	0	0	0	1	0	0	4665	1175	41	2		2	DYNC1H1	14	102016072	Nonsense_Mutation	SNP	G	C3N-01489_TP	13196	102016072	5027646	518	27064											
MTA1	0	.	GRCh38	chr14	105469492	105469492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaaaccacggacaggccagGcacatggtaagaggaacaac	16	2	12	11	1	0	1	0	0	0	1	0	3	0	3	2	5	3	3	2	5	4	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1839G>T	p.Arg613Ser	p.R613S	ENST00000331320	19/21	184	174	10	278	278	0	strelka-varscan-mutect	MTA1,missense_variant,p.Arg153Ser,ENST00000435036,;MTA1,missense_variant,p.Arg613Ser,ENST00000331320,NM_004689.3;MTA1,missense_variant,p.Arg601Ser,ENST00000406191,NM_001203258.1;MTA1,missense_variant,p.Arg596Ser,ENST00000405646,;MTA1,missense_variant,p.Arg409Ser,ENST00000434050,;CRIP2,upstream_gene_variant,,ENST00000329146,NM_001312.3;CRIP2,upstream_gene_variant,,ENST00000483017,NM_001270837.1;RP11-521B24.5,intron_variant,,ENST00000552675,;MTA1,non_coding_transcript_exon_variant,,ENST00000494981,;MTA1,downstream_gene_variant,,ENST00000550551,;MTA1,3_prime_UTR_variant,,ENST00000438610,;MTA1,non_coding_transcript_exon_variant,,ENST00000552286,;MTA1,non_coding_transcript_exon_variant,,ENST00000481206,;MTA1,non_coding_transcript_exon_variant,,ENST00000481635,;MTA1,non_coding_transcript_exon_variant,,ENST00000426567,;MTA1,downstream_gene_variant,,ENST00000469140,;MTA1,downstream_gene_variant,,ENST00000490198,;MTA1,downstream_gene_variant,,ENST00000550808,;	T	ENST00000331320	Transcript	missense_variant	2053/2876	1839/2148	613/715	R/S	agG/agT		1		1	MTA1	HGNC	HGNC:7410	protein_coding	YES	CCDS32169.1	ENSP00000333633	Q13330		UPI00003669FD	NM_004689.3	tolerated(0.2)		19/21		hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	105469492	105469492	G	T	1	0	0	0	0	1	0	0	0	9893	1194	42	2		2	MTA1	14	105469492	Missense_Mutation	SNP	G	C3N-01489_TP	3453420	105469492	1574226	519	27065											
GOLGA8S	0	.	GRCh38	chr15	23364727	23364727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctccctccagatgaagctGctggagctgcagcagatggt	8	8	12	13	0	0	3	0	1	0	2	2	4	2	4	3	2	5	5	3	2	1	0	rs761643345		C3N-01489_TP	C3N-01489_NB	G	G																c.1555G>T	p.Ala519Ser	p.A519S	ENST00000562295	18/19	454	417	37	619	618	1	varscan-mutect	GOLGA8S,missense_variant,p.Ala519Ser,ENST00000562295,;RN7SL536P,downstream_gene_variant,,ENST00000612366,;GOLGA8S,non_coding_transcript_exon_variant,,ENST00000604046,;	T	ENST00000562295	Transcript	missense_variant	1555/1878	1555/1878	519/625	A/S	Gct/Tct	rs761643345	1		1	GOLGA8S	HGNC	HGNC:44409	protein_coding	YES		ENSP00000455298		H3BPF8	UPI00024672CC		tolerated(0.22)		18/19		hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs761643345	.												T	3	4	81	23364727	23364727	G	T	1	0	0	0	0	1	0	0	0	6457	1319	46	2		2	GOLGA8S	15	23364727	Missense_Mutation	SNP	G	C3N-01489_TP		23364727	78626462	520	27066											
MKRN3	0	.	GRCh38	chr15	23566917	23566917	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcccagtgagttctgggtgGaggaggaggaagagaagcag	11	7	18	5	0	1	2	0	1	1	1	2	7	2	6	1	5	1	2	1	5	2	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1135G>T	p.Glu379Ter	p.E379*	ENST00000314520	1/1	289	264	25	489	488	1	strelka-varscan-mutect	MKRN3,stop_gained,p.Glu379Ter,ENST00000314520,NM_005664.3;MKRN3,stop_gained,p.Glu139Ter,ENST00000564592,;MKRN3,intron_variant,,ENST00000568252,;AC126407.1,upstream_gene_variant,,ENST00000626930,;MIR4508,upstream_gene_variant,,ENST00000584178,;MKRN3-AS1,downstream_gene_variant,,ENST00000563044,;MKRN3,non_coding_transcript_exon_variant,,ENST00000568945,;MKRN3,3_prime_UTR_variant,,ENST00000570112,;	T	ENST00000314520	Transcript	stop_gained	1234/2337	1135/1524	379/507	E/*	Gag/Tag		1		1	MKRN3	HGNC	HGNC:7114	protein_coding	YES	CCDS10013.1	ENSP00000313881	Q13064		UPI000000DAA1	NM_005664.3			1/1		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11224:SF38,hmmpanther:PTHR11224																	HIGH		SNV				1										PASS		.	.												T	4	4	81	23566917	23566917	G	T	1	0	0	0	0	0	1	0	0	9576	1175	41	2		2	MKRN3	15	23566917	Nonsense_Mutation	SNP	G	C3N-01489_TP	202190	23566917	78424272	521	27067											
MAGEL2	0	.	GRCh38	chr15	23646070	23646070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggctggggcacctgcgggCcagcgggcggcgccgcgggt	3	3	21	14	6	0	0	0	0	0	0	0	0	0	0	3	7	2	2	3	7	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1673G>T	p.Gly558Val	p.G558V	ENST00000532292	1/1	36	32	4	87	87	0	strelka-varscan-mutect	MAGEL2,missense_variant,p.Gly558Val,ENST00000532292,NM_019066.4;	A	ENST00000532292	Transcript	missense_variant	1772/4298	1673/3750	558/1249	G/V	gGc/gTc		1		-1	MAGEL2	HGNC	HGNC:6814	protein_coding	YES	CCDS73700.1	ENSP00000433433	Q9UJ55		UPI0001B3CB28	NM_019066.4	tolerated_low_confidence(0.11)		1/1		Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	81	23646070	23646070	C	A	1	0	0	0	0	1	0	0	0	9107	739	26	2		2	MAGEL2	15	23646070	Missense_Mutation	SNP	C	C3N-01489_TP	79153	23646070	78345119	522	27068											
GABRB3	0	.	GRCh38	chr15	26583347	26583347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagctttcaatttccaGagtgcagttctgctcgtcca	9	12	7	13	1	2	1	1	0	1	1	5	1	4	1	2	0	3	4	2	0	1	3			C3N-01489_TP	C3N-01489_NB	G	G																c.529C>A	p.Leu177Met	p.L177M	ENST00000311550	5/9	411	379	32	576	576	0	strelka-varscan-mutect	GABRB3,missense_variant,p.Leu233Met,ENST00000541819,;GABRB3,missense_variant,p.Leu92Met,ENST00000622697,NM_001278631.1;GABRB3,missense_variant,p.Leu177Met,ENST00000311550,NM_000814.5;GABRB3,missense_variant,p.Leu92Met,ENST00000628124,NM_001191320.1;GABRB3,missense_variant,p.Leu92Met,ENST00000636466,;GABRB3,missense_variant,p.Leu177Met,ENST00000299267,NM_021912.4;GABRB3,missense_variant,p.Leu144Met,ENST00000638099,;GABRB3,missense_variant,p.Leu106Met,ENST00000400188,NM_001191321.2;GABRB3,missense_variant,p.Leu92Met,ENST00000545868,;GABRB3,non_coding_transcript_exon_variant,,ENST00000635832,;GABRB3,non_coding_transcript_exon_variant,,ENST00000555094,;GABRB3,non_coding_transcript_exon_variant,,ENST00000636512,;GABRB3,missense_variant,p.Leu72Met,ENST00000635994,;GABRB3,missense_variant,p.Ser103Tyr,ENST00000554556,;GABRB3,3_prime_UTR_variant,,ENST00000555632,;GABRB3,upstream_gene_variant,,ENST00000557765,;	T	ENST00000311550	Transcript	missense_variant	641/5781	529/1422	177/473	L/M	Ctg/Atg	COSM4826130,COSM4826131,COSM4826132	1		-1	GABRB3	HGNC	HGNC:4083	protein_coding	YES	CCDS10019.1	ENSP00000308725	P28472		UPI000012AFB0	NM_000814.5	deleterious(0)		5/9		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF571,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												T	3	4	81	26583347	26583347	G	T	1	0	0	0	0	1	0	0	0	6039	933	33	2		2	GABRB3	15	26583347	Missense_Mutation	SNP	G	C3N-01489_TP	2937277	26583347	75407842	523	27069											
HERC2	0	.	GRCh38	chr15	28218628	28218628	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttaatagtgctggtaaaCatcattgcagtggggtgaat	13	12	12	4	0	1	1	1	1	0	0	1	1	1	1	0	3	3	4	0	3	6	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.5889G>T	p.Met1963Ile	p.M1963I	ENST00000261609	38/93	235	215	20	358	358	0	varscan-mutect	HERC2,missense_variant,p.Met1963Ile,ENST00000261609,NM_004667.5;HERC2,downstream_gene_variant,,ENST00000569335,;	A	ENST00000261609	Transcript	missense_variant	5998/15337	5889/14505	1963/4834	M/I	atG/atT		1		-1	HERC2	HGNC	HGNC:4868	protein_coding	YES	CCDS10021.1	ENSP00000261609	O95714		UPI00004578F7	NM_004667.5	tolerated(0.26)		38/93																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	28218628	28218628	C	A	1	0	0	0	0	1	0	0	0	6942	478	17	2		2	HERC2	15	28218628	Missense_Mutation	SNP	C	C3N-01489_TP	1635281	28218628	73772561	524	27070											
THBS1	0	.	GRCh38	chr15	39591221	39591221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattccattacaacccagctCagtatgactatgacagagat	14	10	6	11	0	1	3	1	2	0	1	2	4	2	3	2	0	3	2	2	0	4	4	rs778071185		C3N-01489_TP	C3N-01489_NB	C	C																c.2284C>G	p.Gln762Glu	p.Q762E	ENST00000260356	15/22	89	80	9	145	145	0	strelka-varscan-mutect	THBS1,missense_variant,p.Gln762Glu,ENST00000260356,NM_003246.2;CTD-2033D15.2,downstream_gene_variant,,ENST00000478845,;CTD-2033D15.3,upstream_gene_variant,,ENST00000616754,;CTD-2033D15.1,downstream_gene_variant,,ENST00000560769,;THBS1,non_coding_transcript_exon_variant,,ENST00000560894,;THBS1,upstream_gene_variant,,ENST00000484734,;THBS1,upstream_gene_variant,,ENST00000559746,;THBS1,downstream_gene_variant,,ENST00000497720,;THBS1,downstream_gene_variant,,ENST00000466755,;THBS1,downstream_gene_variant,,ENST00000490247,;	G	ENST00000260356	Transcript	missense_variant	2449/7775	2284/3513	762/1170	Q/E	Cag/Gag	rs778071185	1		1	THBS1	HGNC	HGNC:11785	protein_coding	YES	CCDS32194.1	ENSP00000260356	P07996		UPI00001FE219	NM_003246.2	deleterious(0)		15/22		PROSITE_profiles:PS51234,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,Gene3D:1ux6A01,Pfam_domain:PF02412,Superfamily_domains:0044556																	MODERATE	1	SNV	1			1										PASS		rs778071185	.												G	3	3	81	39591221	39591221	C	G	1	0	0	0	0	1	0	0	0	16286	827	29	4		4	THBS1	15	39591221	Missense_Mutation	SNP	C	C3N-01489_TP	11372593	39591221	62399968	525	27071											
STRC	0	.	GRCh38	chr15	43603352	43603352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctccatctctgcaatctGggttgcagaccaggctgctg	7	10	12	12	0	2	1	0	0	2	1	4	2	3	1	2	2	4	6	2	2	1	1	rs200086657		C3N-01489_TP	C3N-01489_NB	G	G																c.4435C>A	p.Gln1479Lys	p.Q1479K	ENST00000450892	23/29	347	323	24	527	527	0	varscan-mutect	STRC,missense_variant,p.Gln1479Lys,ENST00000450892,NM_153700.2;STRC,missense_variant,p.Gln706Lys,ENST00000541030,;CKMT1B,downstream_gene_variant,,ENST00000300283,NM_020990.3;CKMT1B,downstream_gene_variant,,ENST00000441322,;RNU6-554P,downstream_gene_variant,,ENST00000410466,;CKMT1B,intron_variant,,ENST00000411560,;STRC,3_prime_UTR_variant,,ENST00000440125,;STRC,non_coding_transcript_exon_variant,,ENST00000485556,;STRC,non_coding_transcript_exon_variant,,ENST00000471703,;STRC,non_coding_transcript_exon_variant,,ENST00000493750,;STRC,intron_variant,,ENST00000428650,;STRC,intron_variant,,ENST00000448437,;CKMT1B,downstream_gene_variant,,ENST00000437534,;STRC,downstream_gene_variant,,ENST00000455136,;STRC,upstream_gene_variant,,ENST00000460952,;	T	ENST00000450892	Transcript	missense_variant	4513/5680	4435/5328	1479/1775	Q/K	Cag/Aag	rs200086657	1		-1	STRC	HGNC	HGNC:16035	protein_coding	YES	CCDS10098.1	ENSP00000401513	Q7RTU9		UPI000013E60F	NM_153700.2	deleterious(0)		23/29		hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF14																	MODERATE	1	SNV	5			1										PASS		rs200086657	.												T	3	4	81	43603352	43603352	G	T	1	0	0	0	0	1	0	0	0	15709	1357	47	2		2	STRC	15	43603352	Missense_Mutation	SNP	G	C3N-01489_TP	4012131	43603352	58387837	526	27072											
AQP9	0	.	GRCh38	chr15	58173082	58173082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcaggtggtcacatcaacCcagctgtgtctttagcaatg	9	12	10	10	0	3	0	2	0	1	0	3	0	3	0	1	2	4	3	1	2	3	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.253C>A	p.Pro85Thr	p.P85T	ENST00000219919	3/6	118	109	9	196	195	1	strelka-mutect	AQP9,missense_variant,p.Pro85Thr,ENST00000219919,NM_020980.3;AQP9,missense_variant,p.Pro85Thr,ENST00000536493,;AQP9,missense_variant,p.Pro20Thr,ENST00000558772,;ALDH1A2,intron_variant,,ENST00000558231,;ALDH1A2,intron_variant,,ENST00000558239,;ALDH1A2,intron_variant,,ENST00000560863,;ALDH1A2,intron_variant,,ENST00000558073,;ALDH1A2,intron_variant,,ENST00000560122,;ALDH1A2,intron_variant,,ENST00000559297,;ALDH1A2,intron_variant,,ENST00000558504,;	A	ENST00000219919	Transcript	missense_variant	623/3034	253/888	85/295	P/T	Cca/Aca		1		1	AQP9	HGNC	HGNC:643	protein_coding	YES	CCDS10165.1	ENSP00000219919	O43315		UPI000013C796	NM_020980.3	deleterious(0.02)		3/6		hmmpanther:PTHR19139:SF149,hmmpanther:PTHR19139,PROSITE_patterns:PS00221,TIGRFAM_domain:TIGR00861,Gene3D:1.20.1080.10,Pfam_domain:PF00230,Superfamily_domains:SSF81338,Prints_domain:PR00783																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	58173082	58173082	C	A	1	0	0	0	0	1	0	0	0	956	623	22	2		2	AQP9	15	58173082	Missense_Mutation	SNP	C	C3N-01489_TP	14569730	58173082	43818107	527	27073											
HERC1	0	.	GRCh38	chr15	63641558	63641558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatgttcaatcccagaacaCcctgctgtttcaatgctgtc	9	12	6	14	0	2	1	2	0	0	1	4	1	3	1	3	0	3	4	3	0	3	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.11519G>T	p.Gly3840Val	p.G3840V	ENST00000443617	60/78	165	151	14	219	219	0	strelka-varscan-mutect	HERC1,missense_variant,p.Gly3840Val,ENST00000443617,NM_003922.3;HERC1,upstream_gene_variant,,ENST00000560897,;	A	ENST00000443617	Transcript	missense_variant	11607/15137	11519/14586	3840/4861	G/V	gGt/gTt		1		-1	HERC1	HGNC	HGNC:4867	protein_coding	YES	CCDS45277.1	ENSP00000390158	Q15751	A0A024R5W0	UPI0000212760	NM_003922.3	deleterious(0)		60/78		hmmpanther:PTHR22870:SF188,hmmpanther:PTHR22870																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	63641558	63641558	C	A	1	0	0	0	0	1	0	0	0	6941	507	18	2		2	HERC1	15	63641558	Missense_Mutation	SNP	C	C3N-01489_TP	5468476	63641558	38349631	528	27074											
IGDCC3	0	.	GRCh38	chr15	65331098	65331098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagaggctgagctggcccCccttggtgtgtaggccttga	6	9	14	12	0	0	3	0	2	0	1	0	3	0	3	4	4	1	3	4	4	1	3			C3N-01489_TP	C3N-01489_NB	C	C																c.1513G>T	p.Gly505Trp	p.G505W	ENST00000327987	9/14	220	201	19	306	306	0	strelka-varscan-mutect	IGDCC3,missense_variant,p.Gly505Trp,ENST00000327987,NM_004884.3;IGDCC3,missense_variant,p.Gly368Trp,ENST00000558354,;IGDCC3,downstream_gene_variant,,ENST00000559058,;IGDCC3,downstream_gene_variant,,ENST00000559231,;	A	ENST00000327987	Transcript	missense_variant	1765/4479	1513/2445	505/814	G/W	Ggg/Tgg	COSM4151002	1		-1	IGDCC3	HGNC	HGNC:9700	protein_coding	YES	CCDS10205.1	ENSP00000332773	Q8IVU1		UPI000019908F	NM_004884.3	deleterious(0)		9/14		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF106,SMART_domains:SM00060,Superfamily_domains:SSF49265											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	81	65331098	65331098	C	A	1	0	0	0	0	1	0	0	0	7474	623	22	2		2	IGDCC3	15	65331098	Missense_Mutation	SNP	C	C3N-01489_TP	1689540	65331098	36660091	529	27075											
FEM1B	0	.	GRCh38	chr15	68289997	68289997	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaaatggcgtgctgctatAgtagtgaatggccatgggat	12	11	13	5	1	0	1	0	1	0	0	0	2	0	2	1	3	2	3	1	3	6	4	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.639A>T	p.=	p.I213I	ENST00000306917	2/2	124	110	14	186	186	0	strelka-varscan-mutect	FEM1B,synonymous_variant,p.=,ENST00000306917,NM_015322.4;FEM1B,synonymous_variant,p.=,ENST00000566739,;FEM1B,upstream_gene_variant,,ENST00000566008,;FEM1B,downstream_gene_variant,,ENST00000570067,;	T	ENST00000306917	Transcript	synonymous_variant	1254/7122	639/1884	213/627	I	atA/atT		1		1	FEM1B	HGNC	HGNC:3649	protein_coding	YES	CCDS10228.1	ENSP00000307298	Q9UK73		UPI00000011FB	NM_015322.4			2/2		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24173:SF18,hmmpanther:PTHR24173,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	68289997	68289997	A	T	1	0	0	0	0	0	0	0	1	5673	410	15	4		4	FEM1B	15	68289997	Silent	SNP	A	C3N-01489_TP	2958899	68289997	33701192	530	27076											
ISLR2	0	.	GRCh38	chr15	74134630	74134630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacccgggcaagccctacCgtctgatcctgcggcctcag	8	6	10	17	3	2	1	1	1	1	0	3	1	3	1	5	2	4	1	5	2	3	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1876C>T	p.Arg626Cys	p.R626C	ENST00000361742	4/4	190	170	20	243	243	0	strelka-varscan-mutect	ISLR2,missense_variant,p.Arg626Cys,ENST00000361742,NM_001130136.1;ISLR2,missense_variant,p.Arg626Cys,ENST00000435464,NM_001130138.1;ISLR2,missense_variant,p.Arg626Cys,ENST00000565159,NM_001130137.1;ISLR2,missense_variant,p.Arg626Cys,ENST00000453268,NM_020851.2;ISLR2,missense_variant,p.Arg626Cys,ENST00000565540,;ISLR2,missense_variant,p.Arg215Cys,ENST00000419208,;ISLR2,downstream_gene_variant,,ENST00000569886,;ISLR2,downstream_gene_variant,,ENST00000561740,;ISLR2,downstream_gene_variant,,ENST00000567206,;ISLR2,downstream_gene_variant,,ENST00000565332,;ISLR2,intron_variant,,ENST00000561975,;ISLR2,downstream_gene_variant,,ENST00000565068,;	T	ENST00000361742	Transcript	missense_variant	2645/4817	1876/2238	626/745	R/C	Cgt/Tgt		1		1	ISLR2	HGNC	HGNC:29286	protein_coding	YES	CCDS10259.1	ENSP00000355402	Q6UXK2		UPI000004C60F	NM_001130136.1	deleterious(0)		4/4		hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	74134630	74134630	C	T	1	0	0	0	0	1	0	0	0	7766	652	23	1		1	ISLR2	15	74134630	Missense_Mutation	SNP	C	C3N-01489_TP	5844633	74134630	27856559	531	27077											
LMAN1L	0	.	GRCh38	chr15	74816685	74816685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacatcccctctgagcaGcctgggtaagggcctgtctg	6	8	14	13	0	2	1	0	1	2	0	3	1	3	1	4	3	2	3	4	3	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.492G>T	p.Gln164His	p.Q164H	ENST00000309664	4/14	83	76	7	139	139	0	strelka-varscan-mutect	LMAN1L,missense_variant,p.Gln164His,ENST00000309664,NM_021819.2;LMAN1L,missense_variant,p.Gln164His,ENST00000379709,;LMAN1L,downstream_gene_variant,,ENST00000562810,;LMAN1L,upstream_gene_variant,,ENST00000567848,;RP11-414J4.2,non_coding_transcript_exon_variant,,ENST00000488000,;LMAN1L,non_coding_transcript_exon_variant,,ENST00000470711,;LMAN1L,non_coding_transcript_exon_variant,,ENST00000456603,;RP11-414J4.2,upstream_gene_variant,,ENST00000564823,;LMAN1L,upstream_gene_variant,,ENST00000565585,;LMAN1L,downstream_gene_variant,,ENST00000568467,;LMAN1L,downstream_gene_variant,,ENST00000570147,;	T	ENST00000309664	Transcript	missense_variant	631/1873	492/1581	164/526	Q/H	caG/caT		1		1	LMAN1L	HGNC	HGNC:6632	protein_coding	YES	CCDS10270.1	ENSP00000310431	Q9HAT1		UPI00001AEF1F	NM_021819.2	tolerated(1)		4/14		Gene3D:2.60.120.200,Pfam_domain:PF03388,PROSITE_profiles:PS51328,hmmpanther:PTHR12223,hmmpanther:PTHR12223:SF31,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	74816685	74816685	G	T	1	0	0	0	0	1	0	0	0	8761	985	34	2		2	LMAN1L	15	74816685	Missense_Mutation	SNP	G	C3N-01489_TP	682055	74816685	27174504	532	27078											
ANKRD34C	0	.	GRCh38	chr15	79294086	79294086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgctggcagcctcgacgCgtcaggatgagacccatggt	7	7	15	12	4	1	1	1	1	0	1	2	4	1	2	2	4	2	2	2	4	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.802C>A	p.Arg268Ser	p.R268S	ENST00000421388	1/1	143	130	13	232	232	0	strelka-varscan-mutect	ANKRD34C,missense_variant,p.Arg268Ser,ENST00000421388,NM_001146341.1;	A	ENST00000421388	Transcript	missense_variant	802/4951	802/1608	268/535	R/S	Cgt/Agt		1		1	ANKRD34C	HGNC	HGNC:33888	protein_coding	YES	CCDS53965.1	ENSP00000401089	P0C6C1		UPI0000160A7F	NM_001146341.1	tolerated(0.54)		1/1		hmmpanther:PTHR24157																	MODERATE	1	SNV				1										PASS		rs927055082	.												A	3	1	81	79294086	79294086	C	A	1	0	0	0	0	1	0	0	0	769	768	27	1		1	ANKRD34C	15	79294086	Missense_Mutation	SNP	C	C3N-01489_TP	4477401	79294086	22697103	533	27079											
ANKRD34C	0	.	GRCh38	chr15	79294280	79294280	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcatcctggaaagcagcCtatgagaaaggtcaggctcc	11	6	12	12	1	1	1	1	1	0	1	3	3	3	2	4	4	2	3	4	4	3	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.996C>A	p.=	p.A332A	ENST00000421388	1/1	141	121	20	283	283	0	strelka-varscan-mutect	ANKRD34C,synonymous_variant,p.=,ENST00000421388,NM_001146341.1;	A	ENST00000421388	Transcript	synonymous_variant	996/4951	996/1608	332/535	A	gcC/gcA		1		1	ANKRD34C	HGNC	HGNC:33888	protein_coding	YES	CCDS53965.1	ENSP00000401089	P0C6C1		UPI0000160A7F	NM_001146341.1			1/1		hmmpanther:PTHR24157																	LOW	1	SNV				1										PASS		.	.												A	2	1	81	79294280	79294280	C	A	1	0	0	0	0	0	0	0	1	769	668	24	2		2	ANKRD34C	15	79294280	Silent	SNP	C	C3N-01489_TP	194	79294280	22696909	534	27080											
ALPK3	0	.	GRCh38	chr15	84857762	84857762	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagtggctgggcttagtccCcggacatcgaggcgcatcct	7	8	14	12	3	0	0	0	0	0	0	3	3	2	1	3	4	0	3	3	4	2	1	rs755638287		C3N-01489_TP	C3N-01489_NB	C	C																c.3630C>T	p.=	p.P1210P	ENST00000258888	6/14	76	71	5	125	125	0	varscan-mutect	ALPK3,synonymous_variant,p.=,ENST00000258888,NM_020778.4;	T	ENST00000258888	Transcript	synonymous_variant	3797/10917	3630/5724	1210/1907	P	ccC/ccT	rs755638287	1		1	ALPK3	HGNC	HGNC:17574	protein_coding	YES	CCDS10333.1	ENSP00000258888	Q96L96		UPI000013D013	NM_020778.4			6/14		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF667																	LOW	1	SNV	1			1										PASS		rs755638287	.												T	2	4	81	84857762	84857762	C	T	1	0	0	0	0	0	0	0	1	646	610	22	3		3	ALPK3	15	84857762	Silent	SNP	C	C3N-01489_TP	5563482	84857762	17133427	535	27081											
NTRK3	0	.	GRCh38	chr15	87933067	87933067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcaaagaccatgatgagggGgtccccatcgccgcacactc	10	7	10	14	2	1	3	1	2	0	1	4	3	2	3	4	2	0	1	4	2	1	1	rs373273419		C3N-01489_TP	C3N-01489_NB	G	G																c.1834C>A	p.Pro612Thr	p.P612T	ENST00000360948	16/20	267	235	32	469	469	0	strelka-varscan-mutect	NTRK3,missense_variant,p.Pro612Thr,ENST00000394480,NM_002530.3;NTRK3,missense_variant,p.Pro604Thr,ENST00000558676,;NTRK3,missense_variant,p.Pro612Thr,ENST00000360948,NM_001012338.2;NTRK3,missense_variant,p.Pro604Thr,ENST00000357724,;NTRK3,missense_variant,p.Pro604Thr,ENST00000355254,NM_001243101.1;NTRK3,missense_variant,p.Pro612Thr,ENST00000626019,;NTRK3,missense_variant,p.Pro612Thr,ENST00000629765,;NTRK3,missense_variant,p.Pro604Thr,ENST00000557856,;NTRK3,missense_variant,p.Pro514Thr,ENST00000542733,NM_001320135.1;NTRK3,missense_variant,p.Pro9Thr,ENST00000558576,;NTRK3,non_coding_transcript_exon_variant,,ENST00000559680,;	T	ENST00000360948	Transcript	missense_variant	2140/3004	1834/2520	612/839	P/T	Ccc/Acc	rs373273419,COSM702264,COSM702265	1		-1	NTRK3	HGNC	HGNC:8033	protein_coding	YES	CCDS32322.1	ENSP00000354207	Q16288	X5D2R1	UPI000006DC82	NM_001012338.2	deleterious(0)		16/20		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF66,SMART_domains:SM00219,Superfamily_domains:SSF56112											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs373273419	.												T	3	4	81	87933067	87933067	G	T	1	0	0	0	0	1	0	0	0	10774	1232	43	2		2	NTRK3	15	87933067	Missense_Mutation	SNP	G	C3N-01489_TP	3075305	87933067	14058122	536	27082											
IGF1R	0	.	GRCh38	chr15	98916815	98916815	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgagaagcaggccgagaagGaggaggctgaataccgcaaa	15	2	15	9	3	0	3	0	1	0	2	0	7	0	5	3	4	2	3	3	4	5	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2140G>T	p.Glu714Ter	p.E714*	ENST00000268035	10/21	469	439	30	622	621	1	strelka-varscan-mutect	IGF1R,stop_gained,p.Glu714Ter,ENST00000268035,NM_000875.4;IGF1R,stop_gained,p.Glu714Ter,ENST00000558762,NM_001291858.1;IGF1R,downstream_gene_variant,,ENST00000559582,;IGF1R,3_prime_UTR_variant,,ENST00000560144,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;IGF1R,non_coding_transcript_exon_variant,,ENST00000561049,;	T	ENST00000268035	Transcript	stop_gained	2751/11803	2140/4104	714/1367	E/*	Gag/Tag		1		1	IGF1R	HGNC	HGNC:5465	protein_coding	YES	CCDS10378.1	ENSP00000268035	P08069		UPI000012D3EA	NM_000875.4			10/21		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF000620,SMART_domains:SM00060																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	81	98916815	98916815	G	T	1	0	0	0	0	0	1	0	0	7477	1175	41	2		2	IGF1R	15	98916815	Nonsense_Mutation	SNP	G	C3N-01489_TP	10983748	98916815	3074374	537	27083											
ALDH1A3	0	.	GRCh38	chr15	100898112	100898112	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggttaaagaagctgcgtcCcggagcaatctgaagcgggt	10	8	14	9	3	1	2	0	1	1	1	2	3	2	3	1	3	4	3	1	3	5	1			C3N-01489_TP	C3N-01489_NB	C	C																c.810C>T	p.=	p.S270S	ENST00000329841	8/13	134	126	8	179	179	0	strelka-varscan-mutect	ALDH1A3,synonymous_variant,p.=,ENST00000329841,NM_000693.3;ALDH1A3,synonymous_variant,p.=,ENST00000346623,NM_001293815.1;RP11-66B24.4,intron_variant,,ENST00000560351,;ALDH1A3,non_coding_transcript_exon_variant,,ENST00000558869,;ALDH1A3,downstream_gene_variant,,ENST00000558033,;	T	ENST00000329841	Transcript	synonymous_variant	1342/3924	810/1539	270/512	S	tcC/tcT	COSM3815662	1		1	ALDH1A3	HGNC	HGNC:409	protein_coding	YES	CCDS10389.1	ENSP00000332256	P47895	A0A024RC95	UPI00001AFAF8	NM_000693.3			8/13		Gene3D:3.40.605.10,Pfam_domain:PF00171,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF209,Superfamily_domains:SSF53720											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	81	100898112	100898112	C	T	1	0	0	0	0	0	0	0	1	592	610	22	3		3	ALDH1A3	15	100898112	Silent	SNP	C	C3N-01489_TP	1981297	100898112	1093077	538	27084											
PCSK6	0	.	GRCh38	chr15	101430036	101430036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgggtcataatcattgcCgttcacgtcgtagctggcgt	8	12	12	9	4	3	1	3	0	0	1	4	1	3	1	1	2	2	3	1	2	2	4	rs757548126		C3N-01489_TP	C3N-01489_NB	C	C																c.685G>T	p.Gly229Cys	p.G229C	ENST00000611716	5/22	325	305	20	527	527	0	strelka-varscan-mutect	PCSK6,missense_variant,p.Gly229Cys,ENST00000611716,NM_002570.4;PCSK6,missense_variant,p.Gly229Cys,ENST00000618548,NM_138319.3;PCSK6,missense_variant,p.Gly131Cys,ENST00000398185,NM_001291309.1;PCSK6,missense_variant,p.Gly229Cys,ENST00000611967,NM_138324.2;PCSK6,missense_variant,p.Gly229Cys,ENST00000622483,;PCSK6,missense_variant,p.Gly229Cys,ENST00000619160,;PCSK6,missense_variant,p.Gly229Cys,ENST00000615296,NM_138323.2;PCSK6,missense_variant,p.Gly229Cys,ENST00000331826,NM_138325.3;PCSK6,missense_variant,p.Gly103Cys,ENST00000559417,;PCSK6,intron_variant,,ENST00000557794,;	A	ENST00000611716	Transcript	missense_variant	854/4409	685/2910	229/969	G/C	Ggc/Tgc	rs757548126	1		-1	PCSK6	HGNC	HGNC:8569	protein_coding	YES	CCDS73790.1	ENSP00000482760	P29122		UPI00001311D0	NM_002570.4	deleterious(0)		5/22		hmmpanther:PTHR10795:SF345,hmmpanther:PTHR10795,Pfam_domain:PF00082,Gene3D:3.40.50.200,Superfamily_domains:SSF52743																	MODERATE	1	SNV	1			1										PASS		rs757548126	.												A	3	1	81	101430036	101430036	C	A	1	0	0	0	0	1	0	0	0	11692	652	23	1		1	PCSK6	15	101430036	Missense_Mutation	SNP	C	C3N-01489_TP	531924	101430036	561153	539	27085											
HAGHL	0	.	GRCh38	chr16	727591	727591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgcgcgaggcggtggccGtggacgtggctgtgcccaag	5	6	18	12	6	1	0	1	0	0	0	1	2	1	1	2	5	1	1	2	5	1	0	rs777098321		C3N-01489_TP	C3N-01489_NB	G	G																c.82G>A	p.Val28Met	p.V28M	ENST00000389703	1/8	159	129	30	170	170	0	strelka-varscan-mutect	HAGHL,missense_variant,p.Val28Met,ENST00000549114,;HAGHL,missense_variant,p.Val28Met,ENST00000341413,;HAGHL,missense_variant,p.Val28Met,ENST00000564537,;HAGHL,missense_variant,p.Val28Met,ENST00000389703,NM_001290137.1,NM_001290139.1,NM_032304.3;HAGHL,missense_variant,p.Val28Met,ENST00000561546,;HAGHL,missense_variant,p.Val28Met,ENST00000568141,;HAGHL,missense_variant,p.Val28Met,ENST00000567414,;HAGHL,missense_variant,p.Val28Met,ENST00000564545,;HAGHL,missense_variant,p.Val28Met,ENST00000562141,;NARFL,downstream_gene_variant,,ENST00000540986,NM_001304799.1;NARFL,downstream_gene_variant,,ENST00000568545,;NARFL,downstream_gene_variant,,ENST00000251588,NM_022493.2;CCDC78,upstream_gene_variant,,ENST00000293889,NM_001031737.2;CCDC78,upstream_gene_variant,,ENST00000345165,;FAM173A,downstream_gene_variant,,ENST00000569529,NM_023933.2;NARFL,downstream_gene_variant,,ENST00000562421,;CCDC78,upstream_gene_variant,,ENST00000423653,;HAGHL,upstream_gene_variant,,ENST00000563792,;HAGHL,downstream_gene_variant,,ENST00000562187,;NARFL,downstream_gene_variant,,ENST00000562862,;HAGHL,upstream_gene_variant,,ENST00000563156,;HAGHL,non_coding_transcript_exon_variant,,ENST00000567696,;HAGHL,non_coding_transcript_exon_variant,,ENST00000389701,;HAGHL,non_coding_transcript_exon_variant,,ENST00000561750,;HAGHL,non_coding_transcript_exon_variant,,ENST00000569143,;CCDC78,upstream_gene_variant,,ENST00000482878,;CCDC78,upstream_gene_variant,,ENST00000481804,;CCDC78,upstream_gene_variant,,ENST00000478979,;NARFL,downstream_gene_variant,,ENST00000563051,;NARFL,downstream_gene_variant,,ENST00000566650,;NARFL,downstream_gene_variant,,ENST00000565425,;CCDC78,upstream_gene_variant,,ENST00000466708,;CCDC78,upstream_gene_variant,,ENST00000463539,;CCDC78,upstream_gene_variant,,ENST00000485091,;NARFL,downstream_gene_variant,,ENST00000564285,;CCDC78,upstream_gene_variant,,ENST00000538176,;CCDC78,upstream_gene_variant,,ENST00000439619,;CCDC78,upstream_gene_variant,,ENST00000482152,;CCDC78,upstream_gene_variant,,ENST00000460023,;CCDC78,upstream_gene_variant,,ENST00000471861,;CCDC78,upstream_gene_variant,,ENST00000544996,;CCDC78,upstream_gene_variant,,ENST00000474647,;HAGHL,upstream_gene_variant,,ENST00000569385,;HAGHL,upstream_gene_variant,,ENST00000561561,;	A	ENST00000389703	Transcript	missense_variant	321/1347	82/849	28/282	V/M	Gtg/Atg	rs777098321	1		1	HAGHL	HGNC	HGNC:14177	protein_coding	YES	CCDS32354.1	ENSP00000374353	Q6PII5		UPI00000498AB	NM_001290137.1,NM_001290139.1,NM_032304.3	deleterious(0)		1/8		HAMAP:MF_01374,hmmpanther:PTHR11935:SF77,hmmpanther:PTHR11935,TIGRFAM_domain:TIGR03413,Gene3D:3.60.15.10,SMART_domains:SM00849,Superfamily_domains:SSF56281																	MODERATE	1	SNV	1			1										PASS		rs777098321	.												A	3	1	81	727591	727591	G	A	1	0	0	0	0	1	0	0	0	6832	1145	40	1		1	HAGHL	16	727591	Missense_Mutation	SNP	G	C3N-01489_TP		727591	89610754	540	27086											
C1QTNF8	0	.	GRCh38	chr16	1093958	1093958	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccccacctgccccttcTggcctctgcggccctgcagg	2	7	12	20	2	2	0	0	0	2	0	2	0	2	0	7	4	3	1	7	4	0	1	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.302A>T	p.Gln101Leu	p.Q101L	ENST00000328449	4/5	80	68	12	128	128	0	strelka-varscan-mutect	C1QTNF8,missense_variant,p.Gln101Leu,ENST00000328449,NM_207419.3;C1QTNF8,intron_variant,,ENST00000621771,;	A	ENST00000328449	Transcript	missense_variant	576/1627	302/759	101/252	Q/L	cAg/cTg		1		-1	C1QTNF8	HGNC	HGNC:31374	protein_coding	YES	CCDS32358.1	ENSP00000330426	P60827		UPI0000049307	NM_207419.3	tolerated(0.05)		4/5		Low_complexity_(Seg):seg,Pfam_domain:PF01391																	MODERATE	1	SNV	5			1										PASS		rs1294796320	.												A	3	1	81	1093958	1093958	T	A	1	0	0	0	0	1	0	0	0	1947	1580	55	4		4	C1QTNF8	16	1093958	Missense_Mutation	SNP	T	C3N-01489_TP	366367	1093958	89244387	541	27087											
NOXO1	0	.	GRCh38	chr16	1979513	1979513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcatctgcgcggctgctctCgtaggcgcgggaagcacaga	7	7	14	13	5	3	1	1	0	2	1	4	2	3	2	0	3	3	4	0	3	2	1			C3N-01489_TP	C3N-01489_NB	C	C																c.745G>A	p.Glu249Lys	p.E249K	ENST00000397280	7/8	105	94	11	196	196	0	strelka-varscan-mutect	NOXO1,missense_variant,p.Glu243Lys,ENST00000354249,NM_144603.3;NOXO1,missense_variant,p.Glu244Lys,ENST00000356120,NM_172167.2;NOXO1,missense_variant,p.Glu249Lys,ENST00000397280,NM_172168.2;NOXO1,missense_variant,p.Glu248Lys,ENST00000566005,NM_001267721.1;TBL3,3_prime_UTR_variant,,ENST00000568546,NM_006453.2;TBL3,downstream_gene_variant,,ENST00000615855,;GFER,upstream_gene_variant,,ENST00000248114,NM_005262.2;TBL3,downstream_gene_variant,,ENST00000332704,;NOXO1,downstream_gene_variant,,ENST00000567471,;GFER,upstream_gene_variant,,ENST00000569451,;GFER,upstream_gene_variant,,ENST00000561710,;NOXO1,non_coding_transcript_exon_variant,,ENST00000569739,;TBL3,downstream_gene_variant,,ENST00000569628,;GFER,upstream_gene_variant,,ENST00000565658,;NOXO1,downstream_gene_variant,,ENST00000563181,;TBL3,downstream_gene_variant,,ENST00000567615,;TBL3,downstream_gene_variant,,ENST00000564171,;TBL3,downstream_gene_variant,,ENST00000569792,;TBL3,downstream_gene_variant,,ENST00000561907,;	T	ENST00000397280	Transcript	missense_variant	749/1147	745/1131	249/376	E/K	Gag/Aag	COSM4845869	1		-1	NOXO1	HGNC	HGNC:19404	protein_coding	YES	CCDS42101.1	ENSP00000380450	Q8NFA2		UPI000006E194	NM_172168.2	tolerated(0.1)		7/8		PROSITE_profiles:PS50002,hmmpanther:PTHR15706,hmmpanther:PTHR15706:SF10,Gene3D:2.30.30.40,Pfam_domain:PF14604,SMART_domains:SM00326,Superfamily_domains:SSF50044											1						MODERATE	1	SNV	1		1	1										PASS		rs1264960922	.												T	3	4	81	1979513	1979513	C	T	1	0	0	0	0	1	0	0	0	10607	893	31	1		1	NOXO1	16	1979513	Missense_Mutation	SNP	C	C3N-01489_TP	885555	1979513	88358832	542	27088											
ZNF200	0	.	GRCh38	chr16	3232532	3232532	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaaatacattcaaatcctCaaagaccaccagctcctgaa	16	8	5	12	0	2	3	2	2	0	1	4	3	4	3	4	0	2	1	4	0	5	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.355G>C	p.Glu119Gln	p.E119Q	ENST00000431561	4/5	126	119	7	215	215	0	strelka-varscan-mutect	ZNF200,missense_variant,p.Glu119Gln,ENST00000431561,NM_003454.3;ZNF200,missense_variant,p.Glu119Gln,ENST00000414144,NM_198088.2;ZNF200,missense_variant,p.Glu119Gln,ENST00000396871,NM_001145446.1,NM_001145448.1;ZNF200,missense_variant,p.Glu118Gln,ENST00000396868,NM_198087.2;ZNF200,missense_variant,p.Glu119Gln,ENST00000396870,NM_001145447.1;ZNF200,missense_variant,p.Glu119Gln,ENST00000575948,;ZNF200,downstream_gene_variant,,ENST00000575617,;ZNF200,non_coding_transcript_exon_variant,,ENST00000575630,;ZNF200,upstream_gene_variant,,ENST00000575285,;ZNF200,downstream_gene_variant,,ENST00000577015,;	G	ENST00000431561	Transcript	missense_variant	968/3348	355/1188	119/395	E/Q	Gag/Cag		1		-1	ZNF200	HGNC	HGNC:12993	protein_coding	YES	CCDS10497.1	ENSP00000395723	P98182		UPI00001D89D6	NM_003454.3	deleterious(0.02)		4/5		hmmpanther:PTHR26374,hmmpanther:PTHR26374:SF156																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	3232532	3232532	C	G	1	0	0	0	0	1	0	0	0	18339	835	29	4		4	ZNF200	16	3232532	Missense_Mutation	SNP	C	C3N-01489_TP	1253019	3232532	87105813	543	27089											
SLX4	0	.	GRCh38	chr16	3602264	3602264	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgcagggtcaaggcCaccgcagcgtcgctctctgg	5	8	13	15	3	2	0	1	0	1	0	5	0	3	0	3	3	3	4	3	3	1	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.804G>T	p.=	p.V268V	ENST00000294008	4/15	192	169	23	295	295	0	strelka-varscan-mutect	SLX4,synonymous_variant,p.=,ENST00000294008,NM_032444.2;SLX4,non_coding_transcript_exon_variant,,ENST00000466154,;SLX4,non_coding_transcript_exon_variant,,ENST00000486524,;	A	ENST00000294008	Transcript	synonymous_variant	1445/7307	804/5505	268/1834	V	gtG/gtT		1		-1	SLX4	HGNC	HGNC:23845	protein_coding	YES	CCDS10506.2	ENSP00000294008	Q8IY92		UPI000050D2C5	NM_032444.2			4/15		hmmpanther:PTHR21541,hmmpanther:PTHR21541:SF3																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	81	3602264	3602264	C	A	1	0	0	0	0	0	0	0	1	15048	581	21	2		2	SLX4	16	3602264	Silent	SNP	C	C3N-01489_TP	369732	3602264	86736081	544	27090											
SHISA9	0	.	GRCh38	chr16	12902219	12902219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgctccggggccgcctccgGagaggccagcgagggcgctg	4	3	18	16	6	0	1	0	0	0	1	2	3	2	1	6	5	1	2	6	5	0	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.155G>T	p.Gly52Val	p.G52V	ENST00000558583	1/5	134	114	20	243	243	0	strelka-varscan-mutect	SHISA9,missense_variant,p.Gly52Val,ENST00000558583,NM_001145204.2;SHISA9,missense_variant,p.Gly52Val,ENST00000423335,NM_001145205.1;SHISA9,upstream_gene_variant,,ENST00000482916,;	T	ENST00000558583	Transcript	missense_variant	600/6724	155/1275	52/424	G/V	gGa/gTa		1		1	SHISA9	HGNC	HGNC:37231	protein_coding	YES	CCDS45417.2	ENSP00000454014	B4DS77		UPI0001CE6F1C	NM_001145204.2	tolerated(0.2)		1/5		hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	12902219	12902219	G	T	1	0	0	0	0	1	0	0	0	14546	1174	41	2		2	SHISA9	16	12902219	Missense_Mutation	SNP	G	C3N-01489_TP	9299955	12902219	77436126	545	27091											
MKL2	0	.	GRCh38	chr16	14246818	14246818	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtctcagtactgatgacAcaaacatggcagacactttc	13	9	7	12	0	1	3	1	2	1	1	3	3	1	3	1	1	2	2	1	1	2	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.1558A>G	p.Thr520Ala	p.T520A	ENST00000571589	12/17	274	235	39	497	497	0	strelka-varscan-mutect	MKL2,missense_variant,p.Thr520Ala,ENST00000571589,NM_001308142.1;MKL2,missense_variant,p.Thr520Ala,ENST00000318282,;MKL2,missense_variant,p.Thr520Ala,ENST00000574045,NM_014048.3;MKL2,upstream_gene_variant,,ENST00000572588,;	G	ENST00000571589	Transcript	missense_variant	1730/8799	1558/3300	520/1099	T/A	Aca/Gca		1		1	MKL2	HGNC	HGNC:29819	protein_coding	YES	CCDS76823.1	ENSP00000459626	Q9ULH7		UPI00001FEE5A	NM_001308142.1	tolerated(0.25)		12/17		hmmpanther:PTHR22793:SF5,hmmpanther:PTHR22793																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	81	14246818	14246818	A	G	1	0	0	0	0	1	0	0	0	9569	159	6	5		5	MKL2	16	14246818	Missense_Mutation	SNP	A	C3N-01489_TP	1344599	14246818	76091527	546	27092											
NOMO2	0	.	GRCh38	chr16	18520821	18520821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaactcatctaccatctcCtgcacgggaggcttggtcat	8	12	9	12	1	4	0	2	0	2	0	5	1	4	1	2	3	3	3	2	3	2	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2217G>T	p.Gln739His	p.Q739H	ENST00000621364	19/32	685	625	60	1130	1130	0	varscan-mutect	NOMO2,missense_variant,p.Gln739His,ENST00000330537,;NOMO2,missense_variant,p.Gln739His,ENST00000622306,NM_173614.2;NOMO2,missense_variant,p.Gln739His,ENST00000621364,NM_001004060.1;NOMO2,missense_variant,p.Gln739His,ENST00000381474,;NOMO2,missense_variant,p.Gln572His,ENST00000543392,;NOMO2,3_prime_UTR_variant,,ENST00000564991,;NOMO2,3_prime_UTR_variant,,ENST00000567831,;NOMO2,downstream_gene_variant,,ENST00000569051,;	A	ENST00000621364	Transcript	missense_variant	2289/3921	2217/3804	739/1267	Q/H	caG/caT		1		-1	NOMO2	HGNC	HGNC:22652	protein_coding	YES	CCDS32394.1	ENSP00000477502	Q5JPE7		UPI00001AFC79	NM_001004060.1	deleterious(0.01)		19/32		hmmpanther:PTHR23303																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	18520821	18520821	C	A	1	0	0	0	0	1	0	0	0	10576	680	24	2		2	NOMO2	16	18520821	Missense_Mutation	SNP	C	C3N-01489_TP	4274003	18520821	71817524	547	27093											
DNAH3	0	.	GRCh38	chr16	21051795	21051795	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccacccagtagtagcgCagctgtgagatccattggaa	10	9	12	10	1	0	1	0	1	0	1	1	3	1	2	3	2	2	4	3	2	3	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.4113G>A	p.=	p.L1371L	ENST00000261383	29/62	407	357	50	576	576	0	strelka-varscan-mutect	DNAH3,synonymous_variant,p.=,ENST00000261383,NM_017539.2;DNAH3,non_coding_transcript_exon_variant,,ENST00000572640,;	T	ENST00000261383	Transcript	synonymous_variant	4113/12394	4113/12351	1371/4116	L	ctG/ctA		1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2			29/62		hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	21051795	21051795	C	T	1	0	0	0	0	0	0	0	1	4418	697	25	3		3	DNAH3	16	21051795	Silent	SNP	C	C3N-01489_TP	2530974	21051795	69286550	548	27094											
IL21R	0	.	GRCh38	chr16	27449181	27449181	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcagccctgtggagtgTgacttcaccagccccgggga	7	7	14	13	1	1	1	1	1	0	0	1	3	1	3	4	3	4	2	4	3	0	1	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.1515T>A	p.Cys505Ter	p.C505*	ENST00000337929	9/9	184	170	14	281	281	0	strelka-varscan-mutect	IL21R,stop_gained,p.Cys505Ter,ENST00000337929,NM_181078.2;IL21R,stop_gained,p.Cys505Ter,ENST00000564089,NM_181079.4;IL21R,stop_gained,p.Cys505Ter,ENST00000395754,NM_021798.3;IL21R-AS1,non_coding_transcript_exon_variant,,ENST00000563191,;IL21R,downstream_gene_variant,,ENST00000564583,;IL21R,downstream_gene_variant,,ENST00000561953,;	A	ENST00000337929	Transcript	stop_gained	1988/4849	1515/1617	505/538	C/*	tgT/tgA		1		1	IL21R	HGNC	HGNC:6006	protein_coding	YES	CCDS10630.1	ENSP00000338010	Q9HBE5		UPI0000043CF0	NM_181078.2			9/9		hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF7																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	81	27449181	27449181	T	A	1	0	0	0	0	0	1	0	0	7574	1702	59	4		4	IL21R	16	27449181	Nonsense_Mutation	SNP	T	C3N-01489_TP	6397386	27449181	62889164	549	27095											
KIAA0556	0	.	GRCh38	chr16	27740723	27740723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagggataaaggcctacGgcatgagccagggtggggga	10	4	19	8	1	0	1	0	1	0	0	0	3	0	3	3	7	2	1	3	7	3	2			C3N-01489_TP	C3N-01489_NB	G	G																c.2426G>T	p.Arg809Leu	p.R809L	ENST00000261588	15/28	205	171	34	362	362	0	strelka-varscan-mutect	KIAA0556,missense_variant,p.Arg809Leu,ENST00000261588,NM_015202.2;KIAA0556,intron_variant,,ENST00000573850,;	T	ENST00000261588	Transcript	missense_variant	2445/6616	2426/4857	809/1618	R/L	cGg/cTg	COSM3741868,COSM3741869	1		1	KIAA0556	HGNC	HGNC:29068	protein_coding	YES	CCDS32415.1	ENSP00000261588	O60303		UPI000045693C	NM_015202.2	tolerated(0.07)		15/28		hmmpanther:PTHR21534:SF0,hmmpanther:PTHR21534											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1286736049	.												T	3	4	81	27740723	27740723	G	T	1	0	0	0	0	1	0	0	0	8088	1116	39	1		1	KIAA0556	16	27740723	Missense_Mutation	SNP	G	C3N-01489_TP	291542	27740723	62597622	550	27096											
QPRT	0	.	GRCh38	chr16	29695010	29695010	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgccagtgctgccgccgcTgcagtggaggccgccagggg	5	6	17	13	3	0	0	0	0	0	0	0	1	0	1	5	4	4	3	5	4	0	1	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.360T>G	p.=	p.A120A	ENST00000395384	2/4	158	125	33	236	235	1	strelka-varscan-mutect	QPRT,synonymous_variant,p.=,ENST00000395384,NM_014298.3;AC009133.22,synonymous_variant,p.=,ENST00000449759,;QPRT,intron_variant,,ENST00000562473,;QPRT,intron_variant,,ENST00000219771,;QPRT,upstream_gene_variant,,ENST00000564967,;	G	ENST00000395384	Transcript	synonymous_variant	521/2343	360/894	120/297	A	gcT/gcG		1		1	QPRT	HGNC	HGNC:9755	protein_coding	YES	CCDS10651.1	ENSP00000378782	Q15274		UPI000013C78C	NM_014298.3			2/4		Low_complexity_(Seg):seg,hmmpanther:PTHR32179,PIRSF_domain:PIRSF006250,TIGRFAM_domain:TIGR00078,Pfam_domain:PF01729,Gene3D:3.90.1170.20,Superfamily_domains:SSF51690																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	81	29695010	29695010	T	G	1	0	0	0	0	0	0	0	1	13031	1567	55	5		5	QPRT	16	29695010	Silent	SNP	T	C3N-01489_TP	1954287	29695010	60643335	551	27097											
SALL1	0	.	GRCh38	chr16	51141590	51141590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgccgcacctcgcttcctggGagaactgggccaccgccacc	6	5	11	19	4	0	1	0	0	0	1	2	2	1	1	7	2	1	2	7	2	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.632C>T	p.Ser211Phe	p.S211F	ENST00000251020	2/3	192	171	21	337	337	0	strelka-varscan-mutect	SALL1,missense_variant,p.Ser114Phe,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Ser211Phe,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Ser114Phe,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	A	ENST00000251020	Transcript	missense_variant	666/5146	632/3975	211/1324	S/F	tCc/tTc		1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	deleterious(0)		2/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51																	MODERATE	1	SNV	1			1										PASS		rs1174750691	.												A	3	1	81	51141590	51141590	G	A	1	0	0	0	0	1	0	0	0	14069	1174	41	3		3	SALL1	16	51141590	Missense_Mutation	SNP	G	C3N-01489_TP	21446580	51141590	39196755	552	27098											
GOT2	0	.	GRCh38	chr16	58716033	58716033	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccattgttttcgcaaatctgGggtgttcagaatggcagcag	9	12	12	8	1	2	1	1	0	1	1	3	1	2	1	1	3	1	5	1	3	2	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1000C>G	p.Pro334Ala	p.P334A	ENST00000245206	8/10	93	78	15	183	183	0	strelka-varscan-mutect	GOT2,missense_variant,p.Pro334Ala,ENST00000245206,NM_002080.3;GOT2,missense_variant,p.Pro291Ala,ENST00000434819,NM_001286220.1;GOT2,non_coding_transcript_exon_variant,,ENST00000564400,;GOT2,non_coding_transcript_exon_variant,,ENST00000494627,;GOT2,downstream_gene_variant,,ENST00000496461,;GOT2,downstream_gene_variant,,ENST00000568368,;	C	ENST00000245206	Transcript	missense_variant	1129/2462	1000/1293	334/430	P/A	Cca/Gca		1		-1	GOT2	HGNC	HGNC:4433	protein_coding	YES	CCDS10801.1	ENSP00000245206	P00505		UPI000013CB99	NM_002080.3	tolerated(0.13)		8/10		hmmpanther:PTHR11879,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	58716033	58716033	G	C	1	0	0	0	0	1	0	0	0	6475	1232	43	4		4	GOT2	16	58716033	Missense_Mutation	SNP	G	C3N-01489_TP	7574443	58716033	31622312	553	27099											
CARMIL2	0	.	GRCh38	chr16	67656834	67656834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgaggcctctctcggcagGgcggcgagcagtgtctgtgc	4	7	17	13	4	2	0	0	0	2	0	4	2	2	0	2	4	2	2	2	4	0	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.4070G>A	p.Gly1357Glu	p.G1357E	ENST00000334583	36/38	79	63	16	119	119	0	strelka-varscan-mutect	CARMIL2,missense_variant,p.Gly1357Glu,ENST00000334583,NM_001013838.1;CARMIL2,intron_variant,,ENST00000545661,NM_001317026.1;ACD,downstream_gene_variant,,ENST00000620338,NM_001082486.1;ACD,downstream_gene_variant,,ENST00000219251,NM_001082487.1,NM_022914.2;ACD,downstream_gene_variant,,ENST00000393919,;ACD,downstream_gene_variant,,ENST00000620761,;ACD,downstream_gene_variant,,ENST00000602320,;PARD6A,upstream_gene_variant,,ENST00000458121,NM_001037281.1;PARD6A,upstream_gene_variant,,ENST00000219255,NM_016948.2;PARD6A,upstream_gene_variant,,ENST00000602551,;ACD,downstream_gene_variant,,ENST00000602382,;CARMIL2,splice_region_variant,,ENST00000602368,;CARMIL2,downstream_gene_variant,,ENST00000602321,;ACD,downstream_gene_variant,,ENST00000602622,;ACD,downstream_gene_variant,,ENST00000602860,;PARD6A,upstream_gene_variant,,ENST00000602727,;ACD,downstream_gene_variant,,ENST00000602519,;CARMIL2,downstream_gene_variant,,ENST00000602633,;ACD,downstream_gene_variant,,ENST00000602850,;ACD,downstream_gene_variant,,ENST00000602945,;ACD,downstream_gene_variant,,ENST00000602656,;CARMIL2,upstream_gene_variant,,ENST00000602705,;ACD,downstream_gene_variant,,ENST00000602780,;ACD,downstream_gene_variant,,ENST00000602821,;CARMIL2,downstream_gene_variant,,ENST00000602931,;CARMIL2,downstream_gene_variant,,ENST00000602924,;ACD,downstream_gene_variant,,ENST00000602423,;	A	ENST00000334583	Transcript	missense_variant	4398/4687	4070/4308	1357/1435	G/E	gGg/gAg		1		1	CARMIL2	HGNC	HGNC:27089	protein_coding	YES	CCDS45513.1	ENSP00000334958	Q6F5E8		UPI00005194F2	NM_001013838.1	deleterious(0.02)		36/38																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	67656834	67656834	G	A	1	0	0	0	0	1	0	0	0	2352	1232	43	3		3	CARMIL2	16	67656834	Missense_Mutation	SNP	G	C3N-01489_TP	8940801	67656834	22681511	554	27100											
GAN	0	.	GRCh38	chr16	81363909	81363909	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatatttattctaaaacctGgacaaagcaacctgatttga	15	12	6	8	1	1	2	0	2	1	0	1	4	1	3	2	1	3	1	2	1	6	6	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1202G>C	p.Trp401Ser	p.W401S	ENST00000568107	7/11	333	293	40	594	594	0	strelka-varscan-mutect	GAN,missense_variant,p.Trp401Ser,ENST00000568107,NM_022041.3;GAN,upstream_gene_variant,,ENST00000567335,;	C	ENST00000568107	Transcript	missense_variant	1364/15244	1202/1794	401/597	W/S	tGg/tCg		1		1	GAN	HGNC	HGNC:4137	protein_coding	YES	CCDS10935.1	ENSP00000476795	Q9H2C0	A0A0S2Z4W2	UPI000000DAB6	NM_022041.3	deleterious(0)		7/11		Superfamily_domains:0052715,Gene3D:1zgkA00,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF232,SMART_domains:SM00612																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	81363909	81363909	G	C	1	0	0	0	0	1	0	0	0	6100	1357	47	4		4	GAN	16	81363909	Missense_Mutation	SNP	G	C3N-01489_TP	13707075	81363909	8974436	555	27101											
ADAD2	0	.	GRCh38	chr16	84191491	84191491	+	Frame_Shift_Del	DEL	G	G	-																															gcccgggcgtgggaaaacttGggggaacagatggggaaggc																								novel		C3N-01489_TP	C3N-01489_NB	G	G																c.265delG	p.Glu89AsnfsTer65	p.E89Nfs*65	ENST00000268624	1/11	85	74	11	141	141	0	sindel-varindel-pindel	ADAD2,frameshift_variant,p.Glu89AsnfsTer65,ENST00000268624,NM_139174.3;ADAD2,frameshift_variant,p.Glu89AsnfsTer59,ENST00000315906,NM_001145400.1;ADAD2,frameshift_variant,p.Glu14AsnfsTer59,ENST00000567685,;TAF1C,upstream_gene_variant,,ENST00000567759,NM_005679.3,NM_001243159.1;TAF1C,upstream_gene_variant,,ENST00000341690,NM_139353.2;TAF1C,upstream_gene_variant,,ENST00000541676,NM_001243157.1;TAF1C,upstream_gene_variant,,ENST00000566732,NM_001243156.1;TAF1C,upstream_gene_variant,,ENST00000570117,NM_001243158.1;TAF1C,upstream_gene_variant,,ENST00000564345,;TAF1C,upstream_gene_variant,,ENST00000561955,;TAF1C,upstream_gene_variant,,ENST00000564454,;RP11-486L19.2,downstream_gene_variant,,ENST00000536986,;RP11-486L19.2,downstream_gene_variant,,ENST00000565643,;RP11-486L19.2,downstream_gene_variant,,ENST00000569834,;RP11-486L19.2,downstream_gene_variant,,ENST00000561900,;ADAD2,non_coding_transcript_exon_variant,,ENST00000567413,;TAF1C,upstream_gene_variant,,ENST00000565544,;TAF1C,upstream_gene_variant,,ENST00000564774,;TAF1C,upstream_gene_variant,,ENST00000564208,;TAF1C,upstream_gene_variant,,ENST00000544090,;TAF1C,upstream_gene_variant,,ENST00000566903,;ADAD2,upstream_gene_variant,,ENST00000564430,;ADAD2,upstream_gene_variant,,ENST00000566526,;TAF1C,upstream_gene_variant,,ENST00000563428,;TAF1C,upstream_gene_variant,,ENST00000537450,;TAF1C,upstream_gene_variant,,ENST00000565279,;ADAD2,upstream_gene_variant,,ENST00000564169,;TAF1C,upstream_gene_variant,,ENST00000569505,;TAF1C,upstream_gene_variant,,ENST00000569609,;ADAD2,upstream_gene_variant,,ENST00000569221,;	-	ENST00000268624	Transcript	frameshift_variant	354/2283	261/1998	87/665	L/X	ttG/tt		1		1	ADAD2	HGNC	HGNC:30714	protein_coding	YES	CCDS10944.1	ENSP00000268624	Q8NCV1		UPI000013D7CA	NM_139174.3			1/11																			HIGH	1	deletion	2	4		1										PASS		.	.												-	7	5	81	84191491	84191491	G	-	1	0	1	0	1	0	0	0	0	276	1339	47	0		0	ADAD2	16	84191491	Frame_Shift_Del	DEL	G	C3N-01489_TP	2827582	84191491	6146854	556	27102											
FOXC2	0	.	GRCh38	chr16	86568752	86568752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggggagtcccaggtgagtGgcaatgccagctgccagctg	7	7	16	11	1	0	1	0	1	0	0	2	2	1	2	3	4	4	3	3	4	1	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1417G>T	p.Gly473Cys	p.G473C	ENST00000320354	1/1	422	359	63	562	562	0	strelka-varscan-mutect	FOXC2,missense_variant,p.Gly473Cys,ENST00000320354,NM_005251.2;FOXC2-AS1,upstream_gene_variant,,ENST00000563280,;	T	ENST00000320354	Transcript	missense_variant	1502/2478	1417/1506	473/501	G/C	Ggc/Tgc		1		1	FOXC2	HGNC	HGNC:3801	protein_coding	YES	CCDS10958.1	ENSP00000326371	Q99958		UPI000012ADC6	NM_005251.2	deleterious(0)		1/1		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF189																	MODERATE		SNV				1										PASS		.	.												T	3	4	81	86568752	86568752	G	T	1	0	0	0	0	1	0	0	0	5855	1348	47	2		2	FOXC2	16	86568752	Missense_Mutation	SNP	G	C3N-01489_TP	2377261	86568752	3769593	557	27103											
ZNF469	0	.	GRCh38	chr16	88434998	88434998	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggagccgagcccagcggccTtgcctgctcagcagcctcta	6	6	12	17	3	2	0	1	0	1	0	2	2	2	1	5	2	7	2	5	2	1	2	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.7444T>C	p.=	p.L2482L	ENST00000437464	2/2	254	214	40	450	450	0	strelka-varscan-mutect	ZNF469,synonymous_variant,p.=,ENST00000565624,;ZNF469,synonymous_variant,p.=,ENST00000437464,NM_001127464.2;	C	ENST00000437464	Transcript	synonymous_variant	7444/13203	7444/11778	2482/3925	L	Ttg/Ctg		1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	81	88434998	88434998	T	C	1	0	0	0	0	0	0	0	1	18500	1606	56	5		5	ZNF469	16	88434998	Silent	SNP	T	C3N-01489_TP	1866246	88434998	1903347	558	27104											
ZZEF1	0	.	GRCh38	chr17	4072649	4072649	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtgggccagcttgcttCtaattccaactctggacaaa	10	11	10	10	0	2	1	0	1	2	0	3	2	3	2	2	2	3	2	2	2	3	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.3793G>T	p.Glu1265Ter	p.E1265*	ENST00000381638	25/55	108	81	27	192	192	0	strelka-varscan-mutect	ZZEF1,stop_gained,p.Glu1265Ter,ENST00000381638,NM_015113.3;ZZEF1,downstream_gene_variant,,ENST00000574474,;ZZEF1,stop_gained,p.Glu132Ter,ENST00000572699,;ZZEF1,non_coding_transcript_exon_variant,,ENST00000570365,;ZZEF1,upstream_gene_variant,,ENST00000572426,;	A	ENST00000381638	Transcript	stop_gained	3918/11456	3793/8886	1265/2961	E/*	Gaa/Taa		1		-1	ZZEF1	HGNC	HGNC:29027	protein_coding	YES	CCDS11043.1	ENSP00000371051	O43149		UPI00004569F7	NM_015113.3			25/55		hmmpanther:PTHR22772:SF4,hmmpanther:PTHR22772																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	81	4072649	4072649	C	A	1	0	0	0	0	0	1	0	0	18859	922	32	2		2	ZZEF1	17	4072649	Nonsense_Mutation	SNP	C	C3N-01489_TP		4072649	79184792	559	27105											
SLC16A11	0	.	GRCh38	chr17	7042405	7042405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaagtgcacgtaaggaacGaagtacccgcccccaaccag	13	3	10	15	3	0	0	0	0	0	0	0	2	0	1	5	1	4	3	5	1	6	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.777C>T	p.=	p.F259F	ENST00000308009	3/4	152	124	28	216	216	0	strelka-varscan-mutect	SLC16A11,synonymous_variant,p.=,ENST00000308009,NM_153357.1;SLC16A11,synonymous_variant,p.=,ENST00000447225,;SLC16A13,downstream_gene_variant,,ENST00000308027,NM_201566.2;SLC16A11,downstream_gene_variant,,ENST00000574600,;SLC16A11,intron_variant,,ENST00000573338,;	A	ENST00000308009	Transcript	synonymous_variant	1115/1803	777/1416	259/471	F	ttC/ttT		1		-1	SLC16A11	HGNC	HGNC:23093	protein_coding	YES	CCDS11086.1	ENSP00000310490	Q8NCK7		UPI000006F985	NM_153357.1			3/4		PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF80,hmmpanther:PTHR11360,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	7042405	7042405	G	A	1	0	0	0	0	0	0	0	1	14670	1049	37	1		1	SLC16A11	17	7042405	Silent	SNP	G	C3N-01489_TP	2969756	7042405	76215036	560	27106											
ACAP1	0	.	GRCh38	chr17	7346889	7346889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcattgcttctgccttCagtcaggctcgccttgatga	7	12	10	12	1	3	2	2	2	1	0	4	2	3	2	2	1	4	4	2	1	0	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1089C>A	p.Phe363Leu	p.F363L	ENST00000158762	13/22	79	72	7	101	101	0	strelka-varscan-mutect	ACAP1,missense_variant,p.Phe363Leu,ENST00000158762,NM_014716.3;ACAP1,downstream_gene_variant,,ENST00000570457,;ACAP1,downstream_gene_variant,,ENST00000575425,;ACAP1,upstream_gene_variant,,ENST00000574499,;ACAP1,upstream_gene_variant,,ENST00000571471,;ACAP1,upstream_gene_variant,,ENST00000575415,;ACAP1,upstream_gene_variant,,ENST00000570504,;KCTD11,upstream_gene_variant,,ENST00000576980,;ACAP1,downstream_gene_variant,,ENST00000573893,;ACAP1,non_coding_transcript_exon_variant,,ENST00000570439,;ACAP1,downstream_gene_variant,,ENST00000571220,;ACAP1,downstream_gene_variant,,ENST00000576628,;ACAP1,upstream_gene_variant,,ENST00000576594,;	A	ENST00000158762	Transcript	missense_variant	1295/2512	1089/2223	363/740	F/L	ttC/ttA		1		1	ACAP1	HGNC	HGNC:16467	protein_coding	YES	CCDS11101.1	ENSP00000158762	Q15027		UPI000012749A	NM_014716.3	tolerated(0.06)		13/22		hmmpanther:PTHR23180:SF197,hmmpanther:PTHR23180,Gene3D:2.30.29.30																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	7346889	7346889	C	A	1	0	0	0	0	1	0	0	0	161	825	29	2		2	ACAP1	17	7346889	Missense_Mutation	SNP	C	C3N-01489_TP	304484	7346889	75910552	561	27107											
TP53	0	.	GRCh38	chr17	7676055	7676055	+	Missense_Mutation	SNP	C	C	A																															ccagacggaaaccgtagctgCcctggtaggttttctgggaa																								rs587781504		C3N-01489_TP	C3N-01489_NB	C	C																c.314G>T	p.Gly105Val	p.G105V	ENST00000269305	4/11	111	87	24	191	191	0	strelka-varscan-mutect	TP53,missense_variant,p.Gly105Val,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Gly105Val,ENST00000420246,;TP53,missense_variant,p.Gly66Val,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Gly66Val,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Gly105Val,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Gly66Val,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Gly105Val,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Gly66Val,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Gly105Val,ENST00000445888,;TP53,missense_variant,p.Gly66Val,ENST00000619485,;TP53,missense_variant,p.Gly105Val,ENST00000359597,;TP53,missense_variant,p.Gly105Val,ENST00000615910,;TP53,missense_variant,p.Gly105Val,ENST00000413465,;TP53,missense_variant,p.Gly105Val,ENST00000508793,;TP53,missense_variant,p.Gly105Val,ENST00000604348,;TP53,missense_variant,p.Gly105Val,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000510385,NM_001126116.1;TP53,upstream_gene_variant,,ENST00000618944,NM_001276698.1;TP53,upstream_gene_variant,,ENST00000504290,NM_001126117.1;TP53,upstream_gene_variant,,ENST00000610623,NM_001276699.1;TP53,upstream_gene_variant,,ENST00000504937,NM_001126115.1;TP53,upstream_gene_variant,,ENST00000619186,NM_001276697.1;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Gly66Val,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	504/2579	314/1182	105/393	G/V	gGc/gTc	rs587781504,TP53_g.11545G>A,TP53_g.11545G>C,TP53_g.11545G>T,COSM1649366,COSM4384953,COSM4384954,COSM4384955,COSM4384956,COSM45997,COSM46161,COSM5082351,COSM562613,COSM562614,COSM5646707,COSM5646708,COSM5646709,COSM5646710,COSM5646711	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		4/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417										uncertain_significance,likely_pathogenic	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs587781504	.												A	3	1	81	7676055	7676055	C	A	1	0	0	0	0	1	0	0	0	16859	739	26	2		2	TP53	17	7676055	Missense_Mutation	SNP	C	C3N-01489_TP	329166	7676055	75581386	562	27108	574	2									
TP53	0	.	GRCh38	chr17	7676056	7676056	+	Missense_Mutation	SNP	C	C	A																															cagacggaaaccgtagctgcCctggtaggttttctgggaag																										C3N-01489_TP	C3N-01489_NB	C	C																c.313G>T	p.Gly105Cys	p.G105C	ENST00000269305	4/11	114	90	24	191	190	1	strelka-varscan-mutect	TP53,missense_variant,p.Gly105Cys,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Gly105Cys,ENST00000420246,;TP53,missense_variant,p.Gly66Cys,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Gly66Cys,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Gly105Cys,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Gly66Cys,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Gly105Cys,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Gly66Cys,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Gly105Cys,ENST00000445888,;TP53,missense_variant,p.Gly66Cys,ENST00000619485,;TP53,missense_variant,p.Gly105Cys,ENST00000359597,;TP53,missense_variant,p.Gly105Cys,ENST00000615910,;TP53,missense_variant,p.Gly105Cys,ENST00000413465,;TP53,missense_variant,p.Gly105Cys,ENST00000508793,;TP53,missense_variant,p.Gly105Cys,ENST00000604348,;TP53,missense_variant,p.Gly105Cys,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000510385,NM_001126116.1;TP53,upstream_gene_variant,,ENST00000618944,NM_001276698.1;TP53,upstream_gene_variant,,ENST00000504290,NM_001126117.1;TP53,upstream_gene_variant,,ENST00000610623,NM_001276699.1;TP53,upstream_gene_variant,,ENST00000504937,NM_001126115.1;TP53,upstream_gene_variant,,ENST00000619186,NM_001276697.1;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Gly66Cys,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	503/2579	313/1182	105/393	G/C	Ggc/Tgc	CM043949,TP53_g.11544G>T,TP53_g.11544G>C,TP53_g.11544del,TP53_g.11544G>A,COSM2155200,COSM2155201,COSM2155202,COSM338570,COSM338571,COSM3403300,COSM44481,COSM45179,COSM45833,COSM5318159,COSM5318160,COSM78687	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		4/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417											0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs1060501195	.												A	3	1	81	7676056	7676056	C	A	1	0	0	0	0	1	0	0	0	16859	623	22	2		2	TP53	17	7676056	Missense_Mutation	SNP	C	C3N-01489_TP	1	7676056	75581385	563	27109	574	2									
MYH2	0	.	GRCh38	chr17	10544100	10544100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcataaaatctacttacGtgatcaggattgactgattc	15	12	7	7	1	2	3	1	3	1	0	3	4	2	4	0	1	3	1	0	1	5	5	rs756953958		C3N-01489_TP	C3N-01489_NB	G	G																c.533C>A	p.Thr178Asn	p.T178N	ENST00000245503	6/40	331	281	50	558	557	1	strelka-varscan-mutect	MYH2,missense_variant,p.Thr178Asn,ENST00000245503,NM_017534.5;MYH2,missense_variant,p.Thr178Asn,ENST00000397183,NM_001100112.1;MYH2,missense_variant,p.Thr178Asn,ENST00000532183,;MYH2,missense_variant,p.Thr178Asn,ENST00000622564,;MYH2,missense_variant,p.Thr178Asn,ENST00000420805,;MYH2,missense_variant,p.Thr99Asn,ENST00000578017,;MYHAS,intron_variant,,ENST00000587182,;	T	ENST00000245503	Transcript	missense_variant,splice_region_variant	918/6339	533/5826	178/1941	T/N	aCt/aAt	rs756953958,COSM4141978	1		-1	MYH2	HGNC	HGNC:7572	protein_coding	YES	CCDS11156.1	ENSP00000245503	Q9UKX2		UPI000012FB6C	NM_017534.5	deleterious(0)		6/40		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF385,SMART_domains:SM00242,Superfamily_domains:SSF52540										pathogenic	0,1						MODERATE	1	SNV	1		1,1	1										PASS		rs756953958	.												T	3	4	81	10544100	10544100	G	T	1	0	0	0	0	1	0	0	0	10035	1159	40	1		1	MYH2	17	10544100	Missense_Mutation	SNP	G	C3N-01489_TP	2868044	10544100	72713341	564	27110											
UBB	0	.	GRCh38	chr17	16382584	16382584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacctggtcctgcgcctgaGgggtggctgttaattcttca	5	12	13	11	1	2	1	1	1	1	0	3	1	3	1	3	4	1	3	3	4	1	3			C3N-01489_TP	C3N-01489_NB	G	G																c.677G>T	p.Arg226Met	p.R226M	ENST00000302182	2/2	166	143	23	227	227	0	strelka-varscan-mutect	UBB,missense_variant,p.Arg226Met,ENST00000302182,NM_001281716.1,NM_018955.3,NM_001281720.1;UBB,missense_variant,p.Arg226Met,ENST00000614404,NM_001281717.1;UBB,missense_variant,p.Arg226Met,ENST00000395837,NM_001281718.1;UBB,missense_variant,p.Arg226Met,ENST00000395839,NM_001281719.1;UBB,missense_variant,p.Arg150Met,ENST00000535788,;UBB,downstream_gene_variant,,ENST00000577640,;UBB,downstream_gene_variant,,ENST00000578706,;UBB,downstream_gene_variant,,ENST00000577958,;RP11-138I1.4,non_coding_transcript_exon_variant,,ENST00000583934,;UBB,non_coding_transcript_exon_variant,,ENST00000578649,;	T	ENST00000302182	Transcript	missense_variant	1069/1225	677/690	226/229	R/M	aGg/aTg	COSM2739149	1		1	UBB	HGNC	HGNC:12463	protein_coding	YES	CCDS11177.1	ENSP00000304697	P0CG47	Q5U5U6	UPI0000002146	NM_001281716.1,NM_018955.3,NM_001281720.1	tolerated(0.13)		2/2		PROSITE_profiles:PS50053,hmmpanther:PTHR10666,Pfam_domain:PF00240,Gene3D:3.10.20.90,Superfamily_domains:SSF54236											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	81	16382584	16382584	G	T	1	0	0	0	0	1	0	0	0	17363	1000	35	2		2	UBB	17	16382584	Missense_Mutation	SNP	G	C3N-01489_TP	5838484	16382584	66874857	565	27111											
CCDC144A	0	.	GRCh38	chr17	16705282	16705282	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaccaaagaactgggaCagatgaacttaacagaacga	19	4	9	9	1	0	4	0	1	0	3	0	6	0	5	1	1	6	1	1	1	6	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.547C>A	p.Gln183Lys	p.Q183K	ENST00000360524	3/18	62	56	6	136	136	0	varscan-mutect	CCDC144A,missense_variant,p.Gln183Lys,ENST00000399273,;CCDC144A,missense_variant,p.Gln183Lys,ENST00000360524,NM_014695.2;CCDC144A,missense_variant,p.Gln183Lys,ENST00000456009,;CCDC144A,missense_variant,p.Gln183Lys,ENST00000340621,;CCDC144A,missense_variant,p.Gln80Lys,ENST00000420937,;RN7SL620P,upstream_gene_variant,,ENST00000610816,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000436374,;CCDC144A,upstream_gene_variant,,ENST00000428950,;RP11-219A15.1,missense_variant,p.Gln183Lys,ENST00000448331,;CCDC144A,missense_variant,p.Gln183Lys,ENST00000360495,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000399264,;CCDC144A,upstream_gene_variant,,ENST00000328495,;	A	ENST00000360524	Transcript	missense_variant	623/5830	547/4284	183/1427	Q/K	Cag/Aag		1		1	CCDC144A	HGNC	HGNC:29072	protein_coding	YES	CCDS45621.1	ENSP00000353717	A2RUR9		UPI0000F095D0	NM_014695.2	tolerated_low_confidence(0.1)		3/18		hmmpanther:PTHR22245,hmmpanther:PTHR22245:SF0																	MODERATE	1	SNV	1			1										PASS		rs1039413018	.												A	3	1	81	16705282	16705282	C	A	1	0	0	0	0	1	0	0	0	2465	479	17	2		2	CCDC144A	17	16705282	Missense_Mutation	SNP	C	C3N-01489_TP	322698	16705282	66552159	566	27112											
SLC13A2	0	.	GRCh38	chr17	28495775	28495775	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgagtgcactagcaacGtggccaccactacgatcttc	10	8	8	15	3	2	0	1	0	1	0	3	2	2	0	3	1	4	2	3	1	3	3	rs11568476		C3N-01489_TP	C3N-01489_NB	G	G																c.1576G>C	p.Val526Leu	p.V526L	ENST00000444914	10/12	158	135	23	198	198	0	strelka-varscan-mutect	SLC13A2,missense_variant,p.Val526Leu,ENST00000444914,NM_001145975.1;SLC13A2,missense_variant,p.Val477Leu,ENST00000314669,NM_003984.3;SLC13A2,downstream_gene_variant,,ENST00000545060,;SLC13A2,3_prime_UTR_variant,,ENST00000459818,;SLC13A2,3_prime_UTR_variant,,ENST00000579281,;SLC13A2,3_prime_UTR_variant,,ENST00000577903,;RP11-192H23.4,intron_variant,,ENST00000481916,;SLC13A2,downstream_gene_variant,,ENST00000541739,;	C	ENST00000444914	Transcript	missense_variant	1996/2855	1576/1926	526/641	V/L	Gtg/Ctg	rs11568476,CM109406,COSM1141097,COSM560128	1		1	SLC13A2	HGNC	HGNC:10917	protein_coding	YES	CCDS54098.1	ENSP00000392411	Q13183		UPI0001986446	NM_001145975.1	deleterious(0.04)		10/12		Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF66											0,0,1,1	20610529					MODERATE	1	SNV	2		0,1,1,1	1										PASS		rs11568476	.												C	3	2	81	28495775	28495775	G	C	1	0	0	0	0	1	0	0	0	14657	1145	40	4		4	SLC13A2	17	28495775	Missense_Mutation	SNP	G	C3N-01489_TP	11790493	28495775	54761666	567	27113											
ERAL1	0	.	GRCh38	chr17	28858182	28858182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctttgttggaagatccatgGaagagcatggaatctgctga	11	12	12	6	0	2	3	0	1	2	2	3	6	3	6	1	3	2	3	1	3	3	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.573G>T	p.Trp191Cys	p.W191C	ENST00000254928	5/10	296	261	35	433	433	0	strelka-varscan-mutect	ERAL1,missense_variant,p.Trp191Cys,ENST00000254928,NM_001317985.1,NM_005702.2;ERAL1,missense_variant,p.Trp188Cys,ENST00000580917,;FAM222B,upstream_gene_variant,,ENST00000577513,;ERAL1,upstream_gene_variant,,ENST00000583487,;FAM222B,upstream_gene_variant,,ENST00000583953,;MIR4732,downstream_gene_variant,,ENST00000582320,;MIR4732,downstream_gene_variant,,ENST00000384886,;MIR4732,downstream_gene_variant,,ENST00000581873,;MIR4732,downstream_gene_variant,,ENST00000385059,;MIR451B,upstream_gene_variant,,ENST00000636285,;ERAL1,non_coding_transcript_exon_variant,,ENST00000578001,;ERAL1,missense_variant,p.Trp191Cys,ENST00000461894,;ERAL1,3_prime_UTR_variant,,ENST00000412138,;ERAL1,non_coding_transcript_exon_variant,,ENST00000471992,;ERAL1,non_coding_transcript_exon_variant,,ENST00000577942,;	T	ENST00000254928	Transcript	missense_variant	670/1925	573/1314	191/437	W/C	tgG/tgT		1		1	ERAL1	HGNC	HGNC:3424	protein_coding	YES	CCDS11244.1	ENSP00000254928	O75616		UPI000006DECC	NM_001317985.1,NM_005702.2	deleterious(0.01)		5/10		PROSITE_profiles:PS51713,HAMAP:MF_00367,hmmpanther:PTHR11649:SF3,hmmpanther:PTHR11649,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF01926,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	28858182	28858182	G	T	1	0	0	0	0	1	0	0	0	5051	1183	41	2		2	ERAL1	17	28858182	Missense_Mutation	SNP	G	C3N-01489_TP	362407	28858182	54399259	568	27114											
PHF12	0	.	GRCh38	chr17	28913257	28913257	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaatatgctgcactggagCgcaacaacactacagagcca	14	7	8	12	1	1	1	1	0	0	1	1	2	1	2	1	1	7	3	1	1	5	3	rs764914317		C3N-01489_TP	C3N-01489_NB	C	C																c.1314G>T	p.=	p.A438A	ENST00000332830	9/15	72	63	9	94	94	0	strelka-varscan-mutect	PHF12,synonymous_variant,p.=,ENST00000577226,NM_001290131.1;PHF12,synonymous_variant,p.=,ENST00000332830,NM_001033561.1;PHF12,synonymous_variant,p.=,ENST00000268756,NM_020889.2;PHF12,upstream_gene_variant,,ENST00000579036,;PHF12,non_coding_transcript_exon_variant,,ENST00000582655,;PHF12,upstream_gene_variant,,ENST00000579563,;PHF12,synonymous_variant,p.=,ENST00000378879,;PHF12,3_prime_UTR_variant,,ENST00000583524,;PHF12,3_prime_UTR_variant,,ENST00000584822,;PHF12,non_coding_transcript_exon_variant,,ENST00000582436,;PHF12,intron_variant,,ENST00000589176,;	A	ENST00000332830	Transcript	synonymous_variant	2125/4759	1314/3015	438/1004	A	gcG/gcT	rs764914317,COSM977055	1		-1	PHF12	HGNC	HGNC:20816	protein_coding	YES	CCDS32598.1	ENSP00000329933	Q96QT6		UPI0000197E05	NM_001033561.1			9/15		hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF17											0,1						LOW	1	SNV	2		0,1	1										PASS		rs764914317	.												A	2	1	81	28913257	28913257	C	A	1	0	0	0	0	0	0	0	1	11912	755	27	1		1	PHF12	17	28913257	Silent	SNP	C	C3N-01489_TP	55075	28913257	54344184	569	27115											
SLC6A4	0	.	GRCh38	chr17	30209188	30209188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgatcagcgcgacagtgaGcactgcgggccccgtggcat	7	7	14	13	5	1	1	1	1	0	0	2	3	1	1	2	2	3	2	2	2	0	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1504C>A	p.Leu502Ile	p.L502I	ENST00000261707	12/15	181	167	14	242	242	0	strelka-varscan-mutect	SLC6A4,missense_variant,p.Leu502Ile,ENST00000261707,NM_001045.5;SLC6A4,missense_variant,p.Leu502Ile,ENST00000401766,;SLC6A4,missense_variant,p.Leu502Ile,ENST00000394821,;RP11-354P11.4,downstream_gene_variant,,ENST00000581633,;SLC6A4,intron_variant,,ENST00000579221,;	T	ENST00000261707	Transcript	missense_variant	2080/6604	1504/1893	502/630	L/I	Ctc/Atc		1		-1	SLC6A4	HGNC	HGNC:11050	protein_coding	YES	CCDS11256.1	ENSP00000261707	P31645		UPI0000135493	NM_001045.5	tolerated(0.11)		12/15		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF105,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	30209188	30209188	G	T	1	0	0	0	0	1	0	0	0	14969	971	34	2		2	SLC6A4	17	30209188	Missense_Mutation	SNP	G	C3N-01489_TP	1295931	30209188	53048253	570	27116											
CPD	0	.	GRCh38	chr17	30379572	30379572	+	Frame_Shift_Del	DEL	G	G	-																															gcgagggcgactgtggcttcGgcgacggcggcccgtccggg																								novel		C3N-01489_TP	C3N-01489_NB	G	G																c.593delG	p.Gly198AlafsTer65	p.G198Afs*65	ENST00000225719	1/21	79	71	8	117	117	0	sindel-varindel-pindel	CPD,frameshift_variant,p.Gly198AlafsTer65,ENST00000225719,NM_001304.4;CPD,upstream_gene_variant,,ENST00000543464,NM_001199775.1;CPD,upstream_gene_variant,,ENST00000583275,;	-	ENST00000225719	Transcript	frameshift_variant	668/9394	592/4143	198/1380	G/X	Ggc/gc		1		1	CPD	HGNC	HGNC:2301	protein_coding	YES	CCDS11257.1	ENSP00000225719	O75976		UPI000000DAF7	NM_001304.4			1/21		Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF50,Low_complexity_(Seg):seg,SMART_domains:SM00631,Superfamily_domains:SSF53187																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	81	30379572	30379572	G	-	1	0	1	0	1	0	0	0	0	3592	1116	39	0		0	CPD	17	30379572	Frame_Shift_Del	DEL	G	C3N-01489_TP	170384	30379572	52877869	571	27117											
CPD	0	.	GRCh38	chr17	30445728	30445728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaatgtgactgtcaagagtGaaggcgctattcaggtcaac	13	9	12	7	1	3	4	3	2	0	2	3	4	3	4	0	2	1	1	0	2	5	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2581G>A	p.Glu861Lys	p.E861K	ENST00000225719	12/21	93	78	15	140	140	0	strelka-varscan-mutect	CPD,missense_variant,p.Glu861Lys,ENST00000225719,NM_001304.4;CPD,missense_variant,p.Glu614Lys,ENST00000543464,NM_001199775.1;CPD,missense_variant,p.Glu70Lys,ENST00000584221,;CPD,non_coding_transcript_exon_variant,,ENST00000588977,;CPD,upstream_gene_variant,,ENST00000584051,;CPD,downstream_gene_variant,,ENST00000581826,;CPD,upstream_gene_variant,,ENST00000584050,;	A	ENST00000225719	Transcript	missense_variant	2657/9394	2581/4143	861/1380	E/K	Gaa/Aaa		1		1	CPD	HGNC	HGNC:2301	protein_coding	YES	CCDS11257.1	ENSP00000225719	O75976		UPI000000DAF7	NM_001304.4	tolerated(0.72)		12/21		Gene3D:2.60.40.1120,Pfam_domain:PF13620,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF50,SMART_domains:SM00631,Superfamily_domains:SSF49464																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	30445728	30445728	G	A	1	0	0	0	0	1	0	0	0	3592	1291	45	3		3	CPD	17	30445728	Missense_Mutation	SNP	G	C3N-01489_TP	66156	30445728	52811713	572	27118											
NF1	0	.	GRCh38	chr17	31181426	31181426	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgttttttccagaaacAgcatttaaatttaaagccct	13	16	5	7	0	0	1	0	0	0	1	1	1	1	1	2	0	3	2	2	0	5	8	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.591A>T	p.=	p.T197T	ENST00000358273	6/58	191	160	31	242	242	0	strelka-varscan-mutect	NF1,synonymous_variant,p.=,ENST00000358273,NM_001042492.2;NF1,synonymous_variant,p.=,ENST00000356175,NM_000267.3;NF1,synonymous_variant,p.=,ENST00000431387,NM_001128147.2;NF1,missense_variant,p.Ser123Cys,ENST00000495910,;NF1,synonymous_variant,p.=,ENST00000579081,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;NF1,non_coding_transcript_exon_variant,,ENST00000490416,;	T	ENST00000358273	Transcript	synonymous_variant	974/12425	591/8520	197/2839	T	acA/acT		1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2			6/58		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF90																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	31181426	31181426	A	T	1	0	0	0	0	0	0	0	1	10393	202	7	4		4	NF1	17	31181426	Silent	SNP	A	C3N-01489_TP	735698	31181426	52076015	573	27119											
NF1	0	.	GRCh38	chr17	31349187	31349187	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacatacactactaactctGgttaacaaacacagaaattg	17	11	4	9	0	1	1	0	0	1	1	1	1	1	1	0	1	6	1	0	1	7	6	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.7257G>T	p.=	p.L2419L	ENST00000358273	49/58	219	187	32	363	363	0	strelka-varscan-mutect	NF1,synonymous_variant,p.=,ENST00000358273,NM_001042492.2;NF1,synonymous_variant,p.=,ENST00000356175,NM_000267.3;NF1,synonymous_variant,p.=,ENST00000456735,;NF1,synonymous_variant,p.=,ENST00000471572,;NF1,synonymous_variant,p.=,ENST00000581790,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,downstream_gene_variant,,ENST00000582892,;AK4P1,downstream_gene_variant,,ENST00000581275,;	T	ENST00000358273	Transcript	synonymous_variant	7640/12425	7257/8520	2419/2839	L	ctG/ctT		1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2			49/58		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF90,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		rs1373033155	.												T	2	4	81	31349187	31349187	G	T	1	0	0	0	0	0	0	0	1	10393	1335	47	2		2	NF1	17	31349187	Silent	SNP	G	C3N-01489_TP	167761	31349187	51908254	574	27120											
ASIC2	0	.	GRCh38	chr17	33291937	33291937	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttagcgcggctcagcGatggccgccccctgcgggcg	4	6	16	15	6	1	0	1	0	0	0	1	1	1	0	3	3	3	3	3	3	1	2			C3N-01489_TP	C3N-01489_NB	G	G																c.179C>A	p.Ser60Ter	p.S60*	ENST00000225823	1/10	75	65	10	112	112	0	strelka-varscan-mutect	ASIC2,stop_gained,p.Ser60Ter,ENST00000225823,NM_183377.1;ASIC2,intron_variant,,ENST00000359872,NM_001094.4;ASIC2,upstream_gene_variant,,ENST00000448983,;ASIC2,upstream_gene_variant,,ENST00000579816,;	T	ENST00000225823	Transcript	stop_gained	1052/3443	179/1692	60/563	S/*	tCg/tAg	COSM4842094	1		-1	ASIC2	HGNC	HGNC:99	protein_coding	YES	CCDS11276.1	ENSP00000225823	Q16515		UPI000013C881	NM_183377.1			1/10		hmmpanther:PTHR11690:SF128,hmmpanther:PTHR11690											1						HIGH	1	SNV	1		1	1										PASS		rs1253695117	.												T	4	4	81	33291937	33291937	G	T	1	0	0	0	0	0	1	0	0	1186	1059	37	1		1	ASIC2	17	33291937	Nonsense_Mutation	SNP	G	C3N-01489_TP	1942750	33291937	49965504	575	27121											
C17orf96	0	.	GRCh38	chr17	38674171	38674171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcgggggcacgctgcgacgtCcgcatcctcgccggcggcgg	3	4	18	16	9	0	0	0	0	0	0	3	1	2	0	3	5	1	3	3	5	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.325G>A	p.Asp109Asn	p.D109N	ENST00000621654	1/1	40	35	5	73	73	0	strelka-mutect	C17orf96,missense_variant,p.Asp109Asn,ENST00000621654,NM_001130677.1;	T	ENST00000621654	Transcript	missense_variant	1251/3719	325/1140	109/379	D/N	Gac/Aac		1		-1	C17orf96	HGNC	HGNC:34493	protein_coding	YES	CCDS45661.1	ENSP00000484710	A6NHQ4		UPI0000198ACE	NM_001130677.1	tolerated_low_confidence(0.09)		1/1		hmmpanther:PTHR23187,hmmpanther:PTHR23187:SF1																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	81	38674171	38674171	C	T	1	0	0	0	0	1	0	0	0	1893	855	30	3		3	C17orf96	17	38674171	Missense_Mutation	SNP	C	C3N-01489_TP	5382234	38674171	44583270	576	27122											
CACNB1	0	.	GRCh38	chr17	39175516	39175516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttggcgggacagtgcccGtagcgtgcctgcccggcctg	3	8	16	14	4	1	0	0	0	1	0	1	1	1	1	4	3	4	1	4	3	1	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1474C>T	p.Arg492Trp	p.R492W	ENST00000394303	14/14	158	140	18	225	224	1	strelka-varscan-mutect	CACNB1,missense_variant,p.Arg492Trp,ENST00000394303,NM_000723.4;CACNB1,3_prime_UTR_variant,,ENST00000622445,;CACNB1,downstream_gene_variant,,ENST00000344140,NM_199247.2;CACNB1,downstream_gene_variant,,ENST00000394310,NM_199248.2;RP5-906A24.2,intron_variant,,ENST00000579256,;CACNB1,non_coding_transcript_exon_variant,,ENST00000539338,;CACNB1,downstream_gene_variant,,ENST00000582544,;	A	ENST00000394303	Transcript	missense_variant	1682/3742	1474/1797	492/598	R/W	Cgg/Tgg		1		-1	CACNB1	HGNC	HGNC:1401	protein_coding	YES	CCDS42311.1	ENSP00000377840	Q02641		UPI0000127290	NM_000723.4	deleterious_low_confidence(0)		14/14		hmmpanther:PTHR11824,hmmpanther:PTHR11824:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	39175516	39175516	G	A	1	0	0	0	0	1	0	0	0	2240	1144	40	1		1	CACNB1	17	39175516	Missense_Mutation	SNP	G	C3N-01489_TP	501345	39175516	44081925	577	27123											
KRT9	0	.	GRCh38	chr17	41571647	41571647	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacctccagaaccaccacCaaagccacctccaaaacccc	14	2	3	22	0	0	1	0	0	0	1	2	1	2	1	11	0	3	0	11	0	4	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.346G>C	p.Gly116Arg	p.G116R	ENST00000246662	1/8	62	53	9	97	97	0	strelka-varscan-mutect	KRT9,missense_variant,p.Gly116Arg,ENST00000246662,NM_000226.3;KRT9,intron_variant,,ENST00000588431,;	G	ENST00000246662	Transcript	missense_variant	412/2290	346/1872	116/623	G/R	Ggt/Cgt		1		-1	KRT9	HGNC	HGNC:6447	protein_coding	YES	CCDS32654.1	ENSP00000246662	P35527		UPI00001AE6F7	NM_000226.3	deleterious_low_confidence(0.04)		1/8		Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF96,hmmpanther:PTHR23239																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	41571647	41571647	C	G	1	0	0	0	0	1	0	0	0	8383	594	21	4		4	KRT9	17	41571647	Missense_Mutation	SNP	C	C3N-01489_TP	2396131	41571647	41685794	578	27124											
EFTUD2	0	.	GRCh38	chr17	44859151	44859151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtagagctccccagtgcCcaggatcacatgctcgccag	9	6	11	15	1	1	1	1	0	0	1	3	2	2	2	4	2	3	3	4	2	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1891G>T	p.Gly631Cys	p.G631C	ENST00000426333	19/28	266	225	41	331	331	0	strelka-varscan-mutect	EFTUD2,missense_variant,p.Gly631Cys,ENST00000426333,NM_004247.3;EFTUD2,missense_variant,p.Gly631Cys,ENST00000591382,NM_001258353.1;EFTUD2,missense_variant,p.Gly621Cys,ENST00000592576,NM_001258354.1;EFTUD2,missense_variant,p.Gly596Cys,ENST00000402521,NM_001142605.1;EFTUD2,upstream_gene_variant,,ENST00000590124,;EFTUD2,downstream_gene_variant,,ENST00000585616,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000586276,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000590367,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000590977,;EFTUD2,upstream_gene_variant,,ENST00000589769,;EFTUD2,upstream_gene_variant,,ENST00000588340,;EFTUD2,downstream_gene_variant,,ENST00000586654,;EFTUD2,downstream_gene_variant,,ENST00000585794,;EFTUD2,downstream_gene_variant,,ENST00000587914,;	A	ENST00000426333	Transcript	missense_variant	2189/4548	1891/2919	631/972	G/C	Ggc/Tgc		1		-1	EFTUD2	HGNC	HGNC:30858	protein_coding	YES	CCDS11489.1	ENSP00000392094	Q15029		UPI0000137931	NM_004247.3	deleterious(0.04)		19/28		hmmpanther:PTHR23115:SF5,hmmpanther:PTHR23115,Gene3D:3.30.70.870,Pfam_domain:PF14492,Superfamily_domains:SSF54980																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	44859151	44859151	C	A	1	0	0	0	0	1	0	0	0	4797	623	22	2		2	EFTUD2	17	44859151	Missense_Mutation	SNP	C	C3N-01489_TP	3287504	44859151	38398290	579	27125											
KIF18B	0	.	GRCh38	chr17	44928317	44928317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggttgggtgtcaggcagaGaccctctccttaggcagggc	8	8	15	10	0	2	1	1	0	1	1	3	2	2	1	2	5	0	3	2	5	2	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1985C>T	p.Ser662Phe	p.S662F	ENST00000593135	13/16	275	228	47	410	410	0	strelka-varscan-mutect	KIF18B,missense_variant,p.Ser674Phe,ENST00000587309,NM_001264573.1;KIF18B,missense_variant,p.Ser662Phe,ENST00000593135,NM_001265577.1;KIF18B,missense_variant,p.Ser683Phe,ENST00000590129,;KIF18B,downstream_gene_variant,,ENST00000585687,;	A	ENST00000593135	Transcript	missense_variant	2083/2745	1985/2559	662/852	S/F	tCt/tTt		1		-1	KIF18B	HGNC	HGNC:27102	protein_coding	YES	CCDS45709.2	ENSP00000465992		A0A0C4DGP5	UPI000192C418	NM_001265577.1	deleterious(0)		13/16																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	81	44928317	44928317	G	A	1	0	0	0	0	1	0	0	0	8145	942	33	3		3	KIF18B	17	44928317	Missense_Mutation	SNP	G	C3N-01489_TP	69166	44928317	38329124	580	27126											
SPAG9	0	.	GRCh38	chr17	51120436	51120442	+	Frame_Shift_Del	DEL	TCCACCT	TCCACCT	-																															cgtcccgcagcagctccagcTccacctggtgctcctggtcc																								novel		C3N-01489_TP	C3N-01489_NB	TCCACCT	TCCACCT																c.215_221delAGGTGGA	p.Gln72ArgfsTer51	p.Q72Rfs*51	ENST00000262013	1/30	219	192	27	322	322	0	sindel-varindel-pindel	SPAG9,frameshift_variant,p.Gln72ArgfsTer51,ENST00000262013,NM_001130528.2;SPAG9,frameshift_variant,p.Gln72ArgfsTer51,ENST00000618113,;SPAG9,frameshift_variant,p.Gln72ArgfsTer51,ENST00000357122,NM_003971.5;SPAG9,frameshift_variant,p.Gln72ArgfsTer51,ENST00000505279,NM_001130527.2;	-	ENST00000262013	Transcript	frameshift_variant	424-430/8273	215-221/3966	72-74/1321	QVE/X	cAGGTGGAg/cg		1		-1	SPAG9	HGNC	HGNC:14524	protein_coding	YES	CCDS45740.1	ENSP00000262013	O60271		UPI0000D60DF7	NM_001130528.2			1/30		hmmpanther:PTHR13886:SF2,hmmpanther:PTHR13886,Pfam_domain:PF09744																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	81	51120436	51120436	TCCACCT	-	1	0	1	0	1	0	0	0	0	15316	1551	54	0		0	SPAG9	17	51120436	Frame_Shift_Del	DEL	TCCACCT	C3N-01489_TP	6192119	51120436	32137005	581	27127											
MPO	0	.	GRCh38	chr17	58273572	58273572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacgttggcgatgcgtGggtccactgagtcattgtag	8	11	15	7	3	1	3	1	2	0	1	2	4	2	3	1	2	1	2	1	2	2	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1463C>A	p.Pro488Gln	p.P488Q	ENST00000225275	9/12	451	403	48	574	574	0	strelka-varscan-mutect	MPO,missense_variant,p.Pro488Gln,ENST00000225275,NM_000250.1;MPO,upstream_gene_variant,,ENST00000577220,;MPO,downstream_gene_variant,,ENST00000578493,;	T	ENST00000225275	Transcript	missense_variant	1640/3215	1463/2238	488/745	P/Q	cCa/cAa		1		-1	MPO	HGNC	HGNC:7218	protein_coding	YES	CCDS11604.1	ENSP00000225275	P05164		UPI0000131634	NM_000250.1	deleterious(0)		9/12		PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF49,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	58273572	58273572	G	T	1	0	0	0	0	1	0	0	0	9698	1348	47	2		2	MPO	17	58273572	Missense_Mutation	SNP	G	C3N-01489_TP	7153136	58273572	24983869	582	27128											
MRC2	0	.	GRCh38	chr17	62664892	62664892	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtggtgaccagacccgcAgtggccagtggcgcatctac	8	6	14	13	3	1	2	0	1	1	1	1	2	1	2	3	3	2	2	3	3	1	1	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.463A>C	p.Ser155Arg	p.S155R	ENST00000303375	2/30	98	88	10	175	175	0	strelka-varscan-mutect	MRC2,missense_variant,p.Ser155Arg,ENST00000303375,NM_006039.4;Y_RNA,upstream_gene_variant,,ENST00000384652,;MRC2,non_coding_transcript_exon_variant,,ENST00000584265,;	C	ENST00000303375	Transcript	missense_variant	865/5988	463/4440	155/1479	S/R	Agt/Cgt		1		1	MRC2	HGNC	HGNC:16875	protein_coding	YES	CCDS11634.1	ENSP00000307513	Q9UBG0		UPI000013E895	NM_006039.4	tolerated(0.3)		2/30		Gene3D:2.80.10.50,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF69,SMART_domains:SM00458,Superfamily_domains:SSF50370																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	62664892	62664892	A	C	1	0	0	0	0	1	0	0	0	9723	188	7	5		5	MRC2	17	62664892	Missense_Mutation	SNP	A	C3N-01489_TP	4391320	62664892	20592549	583	27129											
ACE	0	.	GRCh38	chr17	63494431	63494431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaaggtgactttgacccagGggccaagttccacattcctt	9	11	9	12	0	1	2	1	2	0	0	3	2	3	2	4	3	0	1	4	3	2	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.3341G>T	p.Gly1114Val	p.G1114V	ENST00000290866	22/25	501	433	68	629	629	0	strelka-varscan-mutect	ACE,missense_variant,p.Gly1114Val,ENST00000428043,;ACE,missense_variant,p.Gly1114Val,ENST00000290866,NM_000789.3;ACE,missense_variant,p.Gly540Val,ENST00000290863,NM_152830.2;ACE,missense_variant,p.Gly540Val,ENST00000413513,NM_001178057.1;ACE,missense_variant,p.Gly10Val,ENST00000579409,;ACE,downstream_gene_variant,,ENST00000582761,;ACE,non_coding_transcript_exon_variant,,ENST00000577418,;CTD-2501B8.1,missense_variant,p.Gly540Val,ENST00000577647,;ACE,3_prime_UTR_variant,,ENST00000579314,;ACE,3_prime_UTR_variant,,ENST00000578839,;ACE,non_coding_transcript_exon_variant,,ENST00000578679,;ACE,downstream_gene_variant,,ENST00000584865,;ACE,downstream_gene_variant,,ENST00000583645,;ACE,upstream_gene_variant,,ENST00000582244,;	T	ENST00000290866	Transcript	missense_variant	3365/4959	3341/3921	1114/1306	G/V	gGg/gTg		1		1	ACE	HGNC	HGNC:2707	protein_coding	YES	CCDS11637.1	ENSP00000290866	P12821		UPI000002B8AD	NM_000789.3	deleterious(0)		22/25		hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486,Prints_domain:PR00791																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	63494431	63494431	G	T	1	0	0	0	0	1	0	0	0	174	1232	43	2		2	ACE	17	63494431	Missense_Mutation	SNP	G	C3N-01489_TP	829539	63494431	19763010	584	27130											
PRKCA	0	.	GRCh38	chr17	66788855	66788855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagctgatgaccaaacaccCagccaagcggctgggctgtg	10	6	12	13	1	0	2	0	2	0	0	0	2	0	2	3	2	4	3	3	2	3	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1730C>T	p.Pro577Leu	p.P577L	ENST00000413366	16/17	135	125	10	208	208	0	strelka-varscan-mutect	PRKCA,missense_variant,p.Pro577Leu,ENST00000413366,NM_002737.2;MIR634,downstream_gene_variant,,ENST00000385208,;	T	ENST00000413366	Transcript	missense_variant	1756/8751	1730/2019	577/672	P/L	cCa/cTa		1		1	PRKCA	HGNC	HGNC:9393	protein_coding	YES	CCDS11664.1	ENSP00000408695	P17252	L7RSM7	UPI000013DD98	NM_002737.2	deleterious(0)		16/17		PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF193,Pfam_domain:PF00069,PIRSF_domain:PIRSF000550,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	66788855	66788855	C	T	1	0	0	0	0	1	0	0	0	12640	594	21	3		3	PRKCA	17	66788855	Missense_Mutation	SNP	C	C3N-01489_TP	3294424	66788855	16468586	585	27131											
DNAI2	0	.	GRCh38	chr17	74309355	74309355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggatatctgggacttcatGttcgagcagtgcgatcccac	8	11	11	11	2	2	0	1	0	1	0	4	4	3	2	1	2	2	2	1	2	1	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1314G>T	p.Met438Ile	p.M438I	ENST00000446837	9/13	441	390	51	597	597	0	strelka-varscan-mutect	DNAI2,missense_variant,p.Met495Ile,ENST00000579490,;DNAI2,missense_variant,p.Met438Ile,ENST00000446837,;DNAI2,missense_variant,p.Met438Ile,ENST00000582036,NM_001172810.1;DNAI2,missense_variant,p.Met438Ile,ENST00000311014,NM_023036.4;RP11-647F2.2,non_coding_transcript_exon_variant,,ENST00000585167,;DNAI2,3_prime_UTR_variant,,ENST00000579055,;DNAI2,upstream_gene_variant,,ENST00000579312,;	T	ENST00000446837	Transcript	missense_variant	1620/2474	1314/1818	438/605	M/I	atG/atT		1		1	DNAI2	HGNC	HGNC:18744	protein_coding	YES	CCDS11697.1	ENSP00000400252	Q9GZS0		UPI000013EC1D		tolerated(0.11)		9/13		PROSITE_profiles:PS50294,hmmpanther:PTHR12442:SF7,hmmpanther:PTHR12442,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		rs1448018393	.												T	3	4	81	74309355	74309355	G	T	1	0	0	0	0	1	0	0	0	4425	1377	48	2		2	DNAI2	17	74309355	Missense_Mutation	SNP	G	C3N-01489_TP	7520500	74309355	8948086	586	27132											
BTBD17	0	.	GRCh38	chr17	74360191	74360191	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcgctggagcaccgccTgggagtggttgatggaggtg	7	7	19	8	2	0	1	0	1	0	0	0	4	0	4	2	5	2	4	2	5	1	1	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.140A>T	p.Gln47Leu	p.Q47L	ENST00000375366	2/3	126	101	25	169	169	0	strelka-varscan-mutect	BTBD17,missense_variant,p.Gln47Leu,ENST00000375366,NM_001080466.1;KIF19,downstream_gene_variant,,ENST00000389916,NM_153209.3;	A	ENST00000375366	Transcript	missense_variant	267/1805	140/1437	47/478	Q/L	cAg/cTg		1		-1	BTBD17	HGNC	HGNC:33758	protein_coding	YES	CCDS32719.1	ENSP00000364515	A6NE02		UPI00001D7961	NM_001080466.1	tolerated(1)		2/3		hmmpanther:PTHR24410:SF12,hmmpanther:PTHR24410,Gene3D:3.30.710.10,Superfamily_domains:SSF54695																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	81	74360191	74360191	T	A	1	0	0	0	0	1	0	0	0	1716	1580	55	4		4	BTBD17	17	74360191	Missense_Mutation	SNP	T	C3N-01489_TP	50836	74360191	8897250	587	27133											
RNF157	0	.	GRCh38	chr17	76167760	76167760	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtggactttagctttacTggcctcttctccagggctct	5	15	10	11	0	3	0	0	0	3	0	4	1	3	1	2	3	2	3	2	3	3	6	rs146324319		C3N-01489_TP	C3N-01489_NB	T	T																c.334A>T	p.Ser112Cys	p.S112C	ENST00000269391	4/19	203	176	27	295	295	0	strelka-varscan-mutect	RNF157,missense_variant,p.Ser112Cys,ENST00000269391,NM_052916.2;RNF157,missense_variant,p.Ser112Cys,ENST00000319945,;RNF157,upstream_gene_variant,,ENST00000591615,;	A	ENST00000269391	Transcript	missense_variant	467/4955	334/2040	112/679	S/C	Agt/Tgt	rs146324319	1		-1	RNF157	HGNC	HGNC:29402	protein_coding	YES	CCDS32740.1	ENSP00000269391	Q96PX1		UPI00001C1FDD	NM_052916.2	deleterious(0.01)		4/19		hmmpanther:PTHR22996:SF1,hmmpanther:PTHR22996																	MODERATE	1	SNV	1			1										PASS		rs146324319	.												A	3	1	81	76167760	76167760	T	A	1	0	0	0	0	1	0	0	0	13632	1580	55	4		4	RNF157	17	76167760	Missense_Mutation	SNP	T	C3N-01489_TP	1807569	76167760	7089681	588	27134											
RPTOR	0	.	GRCh38	chr17	80822231	80822231	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgaacgacaggaggacGcccctgggtgaactgaactg	10	5	14	12	3	0	3	0	3	0	0	0	6	0	5	3	3	3	0	3	3	3	0	rs751529541		C3N-01489_TP	C3N-01489_NB	G	G																c.921G>T	p.=	p.T307T	ENST00000306801	8/34	227	187	40	278	277	1	strelka-varscan-mutect	RPTOR,synonymous_variant,p.=,ENST00000306801,NM_020761.2;RPTOR,synonymous_variant,p.=,ENST00000544334,NM_001163034.1;RPTOR,synonymous_variant,p.=,ENST00000570891,;RPTOR,non_coding_transcript_exon_variant,,ENST00000575542,;RPTOR,non_coding_transcript_exon_variant,,ENST00000577161,;RPTOR,3_prime_UTR_variant,,ENST00000574767,;	T	ENST00000306801	Transcript	synonymous_variant	1283/6408	921/4008	307/1335	T	acG/acT	rs751529541,COSM1659113	1		1	RPTOR	HGNC	HGNC:30287	protein_coding	YES	CCDS11773.1	ENSP00000307272	Q8N122		UPI000007000F	NM_020761.2			8/34		Prints_domain:PR01547,hmmpanther:PTHR12848											0,1						LOW	1	SNV	1		0,1	1										PASS		rs751529541	.												T	2	4	81	80822231	80822231	G	T	1	0	0	0	0	0	0	0	1	13920	1074	38	1		1	RPTOR	17	80822231	Silent	SNP	G	C3N-01489_TP	4654471	80822231	2435210	589	27135											
BAHCC1	0	.	GRCh38	chr17	81462861	81462861	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggcggcccaacctcccctAcatcggccgcatcgagagca	8	5	11	17	4	0	1	0	0	0	1	3	2	1	1	5	3	3	2	5	3	2	1	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.7598A>T	p.Tyr2533Phe	p.Y2533F	ENST00000584436	28/29	207	188	19	295	295	0	strelka-varscan-mutect	BAHCC1,missense_variant,p.Tyr2533Phe,ENST00000584436,NM_001291324.1;BAHCC1,missense_variant,p.Tyr2502Phe,ENST00000307745,;RP11-1055B8.8,upstream_gene_variant,,ENST00000572590,;BAHCC1,non_coding_transcript_exon_variant,,ENST00000582709,;BAHCC1,downstream_gene_variant,,ENST00000578541,;BAHCC1,downstream_gene_variant,,ENST00000584330,;	T	ENST00000584436	Transcript	missense_variant	7965/10801	7598/7920	2533/2639	Y/F	tAc/tTc		1		1	BAHCC1	HGNC	HGNC:29279	protein_coding	YES	CCDS74173.1	ENSP00000462154		A0A075B747	UPI0003EAE637	NM_001291324.1	tolerated(0.05)		28/29		PROSITE_profiles:PS51038,hmmpanther:PTHR12505:SF22,hmmpanther:PTHR12505,Pfam_domain:PF01426,SMART_domains:SM00439																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	81	81462861	81462861	A	T	1	0	0	0	0	1	0	0	0	1451	391	14	4		4	BAHCC1	17	81462861	Missense_Mutation	SNP	A	C3N-01489_TP	640630	81462861	1794580	590	27136											
FOXK2	0	.	GRCh38	chr17	82571810	82571810	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaacagctcaccctgaacggGatttatacacacatcactaa	16	8	5	12	1	2	1	2	1	0	0	2	2	2	2	1	1	4	1	1	1	5	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.849G>T	p.=	p.G283G	ENST00000335255	4/9	107	99	8	130	130	0	strelka-varscan-mutect	FOXK2,synonymous_variant,p.=,ENST00000335255,NM_004514.3;FOXK2,synonymous_variant,p.=,ENST00000531030,;FOXK2,synonymous_variant,p.=,ENST00000526383,;FOXK2,synonymous_variant,p.=,ENST00000473637,;FOXK2,non_coding_transcript_exon_variant,,ENST00000527313,;FOXK2,non_coding_transcript_exon_variant,,ENST00000570585,;RP13-638C3.6,downstream_gene_variant,,ENST00000581815,;	T	ENST00000335255	Transcript	synonymous_variant	1023/5265	849/1983	283/660	G	ggG/ggT		1		1	FOXK2	HGNC	HGNC:6036	protein_coding	YES	CCDS11813.1	ENSP00000335677	Q01167		UPI00001A8BEE	NM_004514.3			4/9		Gene3D:1.10.10.10,Pfam_domain:PF00250,Prints_domain:PR00053,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF106,SMART_domains:SM00339,Superfamily_domains:SSF46785																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	82571810	82571810	G	T	1	0	0	0	0	0	0	0	1	5878	1161	41	2		2	FOXK2	17	82571810	Silent	SNP	G	C3N-01489_TP	1108949	82571810	685631	591	27137											
ROCK1	0	.	GRCh38	chr18	20970417	20970417	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagctttcttgctttcttgCgtcaattcaaaatactgttc	8	17	6	10	1	4	0	2	0	2	0	5	0	4	0	0	0	4	4	0	0	4	7	rs761231638		C3N-01489_TP	C3N-01489_NB	C	C																c.2751G>C	p.=	p.T917T	ENST00000399799	23/33	172	142	30	265	265	0	strelka-varscan-mutect	ROCK1,synonymous_variant,p.=,ENST00000399799,NM_005406.2;ROCK1,synonymous_variant,p.=,ENST00000635540,;ROCK1,non_coding_transcript_exon_variant,,ENST00000583556,;ROCK1,upstream_gene_variant,,ENST00000584875,;	G	ENST00000399799	Transcript	synonymous_variant	3692/9484	2751/4065	917/1354	T	acG/acC	rs761231638	1		-1	ROCK1	HGNC	HGNC:10251	protein_coding	YES	CCDS11870.2	ENSP00000382697	Q13464		UPI000006F0A4	NM_005406.2			23/33		hmmpanther:PTHR22988:SF33,hmmpanther:PTHR22988,PIRSF_domain:PIRSF037568,PD936484																	LOW	1	SNV	1			1										PASS		rs761231638	.												G	2	3	81	20970417	20970417	C	G	1	0	0	0	0	0	0	0	1	13695	755	27	4		4	ROCK1	18	20970417	Silent	SNP	C	C3N-01489_TP		20970417	59402868	592	27138											
ABHD3	0	.	GRCh38	chr18	21704573	21704573	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggataagggataagcccacCcccgagccgaagaaccccac	14	2	10	15	2	0	1	0	0	0	1	0	5	0	3	6	2	3	0	6	2	4	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.93G>T	p.=	p.G31G	ENST00000289119	1/9	163	153	10	192	192	0	strelka-varscan-mutect	ABHD3,synonymous_variant,p.=,ENST00000289119,NM_138340.4;ABHD3,synonymous_variant,p.=,ENST00000580981,NM_001308256.1;ABHD3,upstream_gene_variant,,ENST00000578270,NM_001308257.1;ABHD3,upstream_gene_variant,,ENST00000584464,;ABHD3,non_coding_transcript_exon_variant,,ENST00000579875,;MIB1,upstream_gene_variant,,ENST00000578646,;ABHD3,synonymous_variant,p.=,ENST00000577891,;ABHD3,non_coding_transcript_exon_variant,,ENST00000579982,;ABHD3,non_coding_transcript_exon_variant,,ENST00000577928,;	A	ENST00000289119	Transcript	synonymous_variant	233/2064	93/1230	31/409	G	ggG/ggT		1		-1	ABHD3	HGNC	HGNC:18718	protein_coding	YES	CCDS32802.1	ENSP00000289119	Q8WU67		UPI0000163938	NM_138340.4			1/9		Transmembrane_helices:TMhelix,hmmpanther:PTHR10794,hmmpanther:PTHR10794:SF50,PIRSF_domain:PIRSF005211																	LOW	1	SNV	1			1										PASS		rs1205956355	.												A	2	1	81	21704573	21704573	C	A	1	0	0	0	0	0	0	0	1	93	610	22	2		2	ABHD3	18	21704573	Silent	SNP	C	C3N-01489_TP	734156	21704573	58668712	593	27139											
NPC1	0	.	GRCh38	chr18	23561455	23561455	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattacaggcgtcagcgtccTtcccacacaggagtcccagg	9	7	10	15	2	1	0	1	0	0	0	4	1	4	1	3	3	2	0	3	3	1	2	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.536A>G	p.Lys179Arg	p.K179R	ENST00000269228	5/25	200	166	34	339	339	0	strelka-varscan-mutect	NPC1,missense_variant,p.Lys179Arg,ENST00000269228,NM_000271.4;NPC1,upstream_gene_variant,,ENST00000591051,;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,;	C	ENST00000269228	Transcript	missense_variant	1091/5157	536/3837	179/1278	K/R	aAg/aGg		1		-1	NPC1	HGNC	HGNC:7897	protein_coding	YES	CCDS11878.1	ENSP00000269228	O15118		UPI000013D80F	NM_000271.4	tolerated(0.38)		5/25		hmmpanther:PTHR10796:SF116,hmmpanther:PTHR10796,TIGRFAM_domain:TIGR00917,Pfam_domain:PF16414																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	23561455	23561455	T	C	1	0	0	0	0	1	0	0	0	10618	1609	56	5		5	NPC1	18	23561455	Missense_Mutation	SNP	T	C3N-01489_TP	1856882	23561455	56811830	594	27140											
NOL4	0	.	GRCh38	chr18	33958367	33958367	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcctcagctcctcggtCtacactctcatttttgccag	6	13	8	14	1	3	0	2	0	2	0	7	1	5	0	3	2	3	1	3	2	1	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1108G>T	p.Asp370Tyr	p.D370Y	ENST00000261592	7/11	123	93	30	169	169	0	strelka-varscan-mutect	NOL4,missense_variant,p.Asp370Tyr,ENST00000261592,NM_003787.4;NOL4,missense_variant,p.Asp370Tyr,ENST00000589544,NM_001198548.1;NOL4,missense_variant,p.Asp296Tyr,ENST00000538587,NM_001198547.1;NOL4,missense_variant,p.Asp354Tyr,ENST00000590712,NM_001198546.1;NOL4,missense_variant,p.Asp85Tyr,ENST00000535384,NM_001198549.1;NOL4,missense_variant,p.Asp119Tyr,ENST00000586553,;NOL4,3_prime_UTR_variant,,ENST00000586314,;	A	ENST00000261592	Transcript	missense_variant	1406/3957	1108/1917	370/638	D/Y	Gac/Tac		1		-1	NOL4	HGNC	HGNC:7870	protein_coding	YES	CCDS11907.2	ENSP00000261592	O94818		UPI000059D504	NM_003787.4	deleterious(0.05)		7/11		hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	33958367	33958367	C	A	1	0	0	0	0	1	0	0	0	10567	913	32	2		2	NOL4	18	33958367	Missense_Mutation	SNP	C	C3N-01489_TP	10396912	33958367	46414918	595	27141											
FHOD3	0	.	GRCh38	chr18	36779516	36779516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgggcttggttggcacctcgGagttgcagctgtgacactca	6	11	14	10	1	1	1	1	1	0	0	2	2	1	2	1	4	2	6	1	4	0	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.4855G>A	p.Glu1619Lys	p.E1619K	ENST00000590592	29/29	202	191	11	279	279	0	strelka-varscan-mutect	FHOD3,missense_variant,p.Glu1436Lys,ENST00000257209,NM_025135.3;FHOD3,missense_variant,p.Glu1619Lys,ENST00000590592,NM_001281740.1;FHOD3,missense_variant,p.Glu1419Lys,ENST00000359247,NM_001281739.1;FHOD3,missense_variant,p.Glu1197Lys,ENST00000592930,;FHOD3,missense_variant,p.Glu632Lys,ENST00000591635,;FHOD3,missense_variant,p.Glu525Lys,ENST00000592128,;TPGS2,3_prime_UTR_variant,,ENST00000590258,;FHOD3,3_prime_UTR_variant,,ENST00000585579,;TPGS2,downstream_gene_variant,,ENST00000614939,NM_001271956.1;TPGS2,downstream_gene_variant,,ENST00000587129,;TPGS2,downstream_gene_variant,,ENST00000590652,;	A	ENST00000590592	Transcript	missense_variant	4855/4869	4855/4869	1619/1622	E/K	Gag/Aag		1		1	FHOD3	HGNC	HGNC:26178	protein_coding	YES	CCDS62418.1	ENSP00000466937	Q2V2M9		UPI0002840E0A	NM_001281740.1	deleterious_low_confidence(0)		29/29																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	36779516	36779516	G	A	1	0	0	0	0	1	0	0	0	5748	1175	41	3		3	FHOD3	18	36779516	Missense_Mutation	SNP	G	C3N-01489_TP	2821149	36779516	43593769	596	27142											
PIK3C3	0	.	GRCh38	chr18	42064830	42064830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagataaaactgtgaaaaaGgtaatttttaagtaacataa	20	11	6	4	0	0	2	0	1	0	1	0	2	0	2	1	1	2	2	1	1	8	7	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2523G>C	p.Lys841Asn	p.K841N	ENST00000262039	23/25	89	81	8	107	107	0	strelka-varscan-mutect	PIK3C3,missense_variant,p.Lys841Asn,ENST00000262039,NM_002647.2;PIK3C3,missense_variant,p.Lys778Asn,ENST00000398870,NM_001308020.1;PIK3C3,splice_region_variant,,ENST00000593098,;PIK3C3,splice_region_variant,,ENST00000588156,;PIK3C3,splice_region_variant,,ENST00000587261,;PIK3C3,splice_region_variant,,ENST00000588631,;PIK3C3,splice_region_variant,,ENST00000587328,;	C	ENST00000262039	Transcript	missense_variant,splice_region_variant	2609/9443	2523/2664	841/887	K/N	aaG/aaC		1		1	PIK3C3	HGNC	HGNC:8974	protein_coding	YES	CCDS11920.1	ENSP00000262039	Q8NEB9		UPI00000708CE	NM_002647.2	deleterious(0)		23/25		Gene3D:1.10.1070.11,PIRSF_domain:PIRSF000587,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,SMART_domains:SM00146,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	42064830	42064830	G	C	1	0	0	0	0	1	0	0	0	12007	1014	35	4		4	PIK3C3	18	42064830	Missense_Mutation	SNP	G	C3N-01489_TP	5285314	42064830	38308455	597	27143											
SMAD2	0	.	GRCh38	chr18	47848483	47848483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaaacatacctatatgcCttcttgtcatttctaccgtg	12	15	4	10	1	3	0	1	0	2	0	3	0	3	0	3	0	4	0	3	0	7	8	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.989G>T	p.Arg330Met	p.R330M	ENST00000262160	8/11	265	249	16	416	415	1	strelka-varscan-mutect	SMAD2,missense_variant,p.Arg330Met,ENST00000262160,NM_005901.5;SMAD2,missense_variant,p.Arg330Met,ENST00000402690,NM_001003652.3;SMAD2,missense_variant,p.Arg300Met,ENST00000356825,NM_001135937.2;SMAD2,missense_variant,p.Arg300Met,ENST00000586040,;SMAD2,missense_variant,p.Arg300Met,ENST00000591214,;MTCO2P2,downstream_gene_variant,,ENST00000591258,;	A	ENST00000262160	Transcript	missense_variant	1241/34526	989/1404	330/467	R/M	aGg/aTg		1		-1	SMAD2	HGNC	HGNC:6768	protein_coding	YES	CCDS11934.1	ENSP00000262160	Q15796	Q53XR6	UPI0000032EE7	NM_005901.5	deleterious(0)		8/11		PROSITE_profiles:PS51076,hmmpanther:PTHR13703:SF42,hmmpanther:PTHR13703,Gene3D:2.60.200.10,Pfam_domain:PF03166,SMART_domains:SM00524,Superfamily_domains:SSF49879																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	47848483	47848483	C	A	1	0	0	0	0	1	0	0	0	15051	681	24	2		2	SMAD2	18	47848483	Missense_Mutation	SNP	C	C3N-01489_TP	5783653	47848483	32524802	598	27144											
MRO	0	.	GRCh38	chr18	50800044	50800044	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctcactcaccagctgctGgtagagcttagtgttccttt	6	14	10	11	0	2	1	2	0	0	1	3	1	3	1	2	2	3	6	2	2	2	4			C3N-01489_TP	C3N-01489_NB	G	G																c.727C>T	p.Gln243Ter	p.Q243*	ENST00000436348	6/7	106	98	8	188	188	0	strelka-varscan-mutect	MRO,stop_gained,p.Gln229Ter,ENST00000610511,NM_031939.3;MRO,stop_gained,p.Gln229Ter,ENST00000256425,;MRO,stop_gained,p.Gln229Ter,ENST00000428869,;MRO,stop_gained,p.Gln191Ter,ENST00000431965,NM_001127175.1;MRO,stop_gained,p.Gln243Ter,ENST00000436348,NM_001127176.1;MRO,stop_gained,p.Gln229Ter,ENST00000398439,;MRO,stop_gained,p.Gln177Ter,ENST00000588444,NM_001127174.1;MRO,stop_gained,p.Gln177Ter,ENST00000592966,;MRO,downstream_gene_variant,,ENST00000587291,;MRO,3_prime_UTR_variant,,ENST00000585524,;MRO,downstream_gene_variant,,ENST00000590988,;	A	ENST00000436348	Transcript	stop_gained	876/1125	727/789	243/262	Q/*	Cag/Tag	COSM5388214,COSM5388215	1		-1	MRO	HGNC	HGNC:24121	protein_coding	YES	CCDS45868.1	ENSP00000397900	Q9BYG7		UPI000174C6BE	NM_001127176.1			6/7		hmmpanther:PTHR23120:SF2,hmmpanther:PTHR23120											1,1						HIGH	1	SNV	5		1,1	1										PASS		.	.												A	4	1	81	50800044	50800044	G	A	1	0	0	0	0	0	1	0	0	9742	1357	47	3		3	MRO	18	50800044	Nonsense_Mutation	SNP	G	C3N-01489_TP	2951561	50800044	29573241	599	27145											
TCF4	0	.	GRCh38	chr18	55228884	55228884	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgaggatgacggccacCgcctggtggaggatcaggag	10	5	17	9	2	1	3	1	2	0	1	1	7	1	7	3	6	0	0	3	6	0	0	rs369262048		C3N-01489_TP	C3N-01489_NB	C	C																c.2148G>T	p.=	p.A716A	ENST00000398339	19/21	394	364	30	623	621	2	strelka-varscan-mutect	TCF4,synonymous_variant,p.=,ENST00000636400,;TCF4,synonymous_variant,p.=,ENST00000356073,NM_003199.2;TCF4,synonymous_variant,p.=,ENST00000616053,;TCF4,synonymous_variant,p.=,ENST00000635822,;TCF4,synonymous_variant,p.=,ENST00000638154,;TCF4,synonymous_variant,p.=,ENST00000636822,;TCF4,synonymous_variant,p.=,ENST00000637169,;TCF4,synonymous_variant,p.=,ENST00000629387,;TCF4,synonymous_variant,p.=,ENST00000564999,;TCF4,synonymous_variant,p.=,ENST00000354452,NM_001083962.1;TCF4,synonymous_variant,p.=,ENST00000570287,NM_001243235.1;TCF4,synonymous_variant,p.=,ENST00000537578,NM_001243227.1;TCF4,synonymous_variant,p.=,ENST00000564403,NM_001243228.1;TCF4,synonymous_variant,p.=,ENST00000568740,;TCF4,synonymous_variant,p.=,ENST00000540999,NM_001306207.1;TCF4,synonymous_variant,p.=,ENST00000398339,NM_001243226.2;TCF4,synonymous_variant,p.=,ENST00000543082,NM_001243231.1;TCF4,synonymous_variant,p.=,ENST00000568673,;TCF4,synonymous_variant,p.=,ENST00000457482,NM_001243234.1;TCF4,synonymous_variant,p.=,ENST00000565018,;TCF4,synonymous_variant,p.=,ENST00000544241,NM_001243232.1;TCF4,synonymous_variant,p.=,ENST00000561992,NM_001243233.1;TCF4,synonymous_variant,p.=,ENST00000566279,;TCF4,synonymous_variant,p.=,ENST00000566286,NM_001243230.1;TCF4,synonymous_variant,p.=,ENST00000537856,;TCF4,synonymous_variant,p.=,ENST00000567880,;TCF4,synonymous_variant,p.=,ENST00000564228,NM_001306208.1;TCF4,synonymous_variant,p.=,ENST00000570177,;TCF4,synonymous_variant,p.=,ENST00000561831,NM_001243236.1;TCF4,synonymous_variant,p.=,ENST00000626584,;TCF4,synonymous_variant,p.=,ENST00000626631,;TCF4,non_coding_transcript_exon_variant,,ENST00000637239,;TCF4,non_coding_transcript_exon_variant,,ENST00000637250,;TCF4,non_coding_transcript_exon_variant,,ENST00000635990,;TCF4,3_prime_UTR_variant,,ENST00000636751,;TCF4,3_prime_UTR_variant,,ENST00000637115,;TCF4,3_prime_UTR_variant,,ENST00000637923,;TCF4,non_coding_transcript_exon_variant,,ENST00000562680,;TCF4,non_coding_transcript_exon_variant,,ENST00000626466,;	A	ENST00000398339	Transcript	synonymous_variant	2278/2551	2148/2322	716/773	A	gcG/gcT	rs369262048	1		-1	TCF4	HGNC	HGNC:11634	protein_coding	YES	CCDS58631.1	ENSP00000381382		E9PH57	UPI0000EE5B9B	NM_001243226.2			19/21		PROSITE_profiles:PS50888,hmmpanther:PTHR11793:SF10,hmmpanther:PTHR11793,Pfam_domain:PF00010,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459																	LOW	1	SNV	1			1										PASS		rs369262048	.												A	2	1	81	55228884	55228884	C	A	1	0	0	0	0	0	0	0	1	16102	639	23	1		1	TCF4	18	55228884	Silent	SNP	C	C3N-01489_TP	4428840	55228884	25144401	600	27146											
ALPK2	0	.	GRCh38	chr18	58536839	58536839	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagctcctaaagtctgcTctgtccacagtctggctctt	7	14	7	13	0	5	0	1	0	4	0	7	0	7	0	2	1	2	3	2	1	3	3	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.3348A>C	p.Arg1116Ser	p.R1116S	ENST00000361673	5/13	187	174	13	365	363	2	strelka-varscan-mutect	ALPK2,missense_variant,p.Arg1116Ser,ENST00000361673,NM_052947.3;RP11-1151B14.4,non_coding_transcript_exon_variant,,ENST00000591360,;ALPK2,downstream_gene_variant,,ENST00000587842,;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;	G	ENST00000361673	Transcript	missense_variant	3562/7303	3348/6513	1116/2170	R/S	agA/agC		1		-1	ALPK2	HGNC	HGNC:20565	protein_coding	YES	CCDS11966.2	ENSP00000354991	Q86TB3		UPI000022A768	NM_052947.3	tolerated(0.43)		5/13		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	58536839	58536839	T	G	1	0	0	0	0	1	0	0	0	645	1548	54	5		5	ALPK2	18	58536839	Missense_Mutation	SNP	T	C3N-01489_TP	3307955	58536839	21836446	601	27147											
ALPK2	0	.	GRCh38	chr18	58536855	58536855	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctgtccacagtctggCtcttatctccagacaggtta	7	13	8	13	0	4	1	0	0	4	1	6	1	5	1	2	2	1	3	2	2	2	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.3332G>T	p.Ser1111Ile	p.S1111I	ENST00000361673	5/13	204	192	12	386	385	1	strelka-varscan-mutect	ALPK2,missense_variant,p.Ser1111Ile,ENST00000361673,NM_052947.3;RP11-1151B14.4,non_coding_transcript_exon_variant,,ENST00000591360,;ALPK2,downstream_gene_variant,,ENST00000587842,;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;	A	ENST00000361673	Transcript	missense_variant	3546/7303	3332/6513	1111/2170	S/I	aGc/aTc		1		-1	ALPK2	HGNC	HGNC:20565	protein_coding	YES	CCDS11966.2	ENSP00000354991	Q86TB3		UPI000022A768	NM_052947.3	tolerated(0.06)		5/13		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	58536855	58536855	C	A	1	0	0	0	0	1	0	0	0	645	797	28	2		2	ALPK2	18	58536855	Missense_Mutation	SNP	C	C3N-01489_TP	16	58536855	21836430	602	27148											
ZNF532	0	.	GRCh38	chr18	58918613	58918613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtaaagatggagcaaagtCcttgaaaggagatgtgcctg	14	8	13	6	0	0	3	0	1	0	2	1	5	1	4	2	2	2	2	2	2	4	2	rs776628824		C3N-01489_TP	C3N-01489_NB	C	C																c.326C>A	p.Ser109Tyr	p.S109Y	ENST00000336078	4/11	260	239	21	449	449	0	strelka-varscan-mutect	ZNF532,missense_variant,p.Ser109Tyr,ENST00000336078,NM_001318726.1,NM_001318727.1,NM_001318728.1,NM_018181.4;ZNF532,missense_variant,p.Ser109Tyr,ENST00000589288,;ZNF532,missense_variant,p.Ser109Tyr,ENST00000591083,;ZNF532,missense_variant,p.Ser109Tyr,ENST00000591808,;ZNF532,missense_variant,p.Ser109Tyr,ENST00000591230,;ZNF532,missense_variant,p.Ser109Tyr,ENST00000589481,;ZNF532,missense_variant,p.Ser109Tyr,ENST00000592452,;ZNF532,missense_variant,p.Ser109Tyr,ENST00000591049,;ZNF532,missense_variant,p.Ser109Tyr,ENST00000588456,;ZNF532,downstream_gene_variant,,ENST00000588601,;ZNF532,downstream_gene_variant,,ENST00000590285,;ZNF532,downstream_gene_variant,,ENST00000590287,;ZNF532,downstream_gene_variant,,ENST00000587755,;ZNF532,downstream_gene_variant,,ENST00000586085,;ZNF532,downstream_gene_variant,,ENST00000588543,;ZNF532,upstream_gene_variant,,ENST00000586997,;ZNF532,upstream_gene_variant,,ENST00000590157,;ZNF532,upstream_gene_variant,,ENST00000589156,;	A	ENST00000336078	Transcript	missense_variant	1102/6696	326/3906	109/1301	S/Y	tCc/tAc	rs776628824	1		1	ZNF532	HGNC	HGNC:30940	protein_coding	YES	CCDS11969.1	ENSP00000338217	Q9HCE3	A0A024R283	UPI000013D30C	NM_001318726.1,NM_001318727.1,NM_001318728.1,NM_018181.4	tolerated(0.84)		4/11		hmmpanther:PTHR26374,hmmpanther:PTHR26374:SF204																	MODERATE	1	SNV	1			1										PASS		rs776628824	.												A	3	1	81	58918613	58918613	C	A	1	0	0	0	0	1	0	0	0	18545	855	30	2		2	ZNF532	18	58918613	Missense_Mutation	SNP	C	C3N-01489_TP	381758	58918613	21454672	603	27149											
HMSD	0	.	GRCh38	chr18	63960266	63960266	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaactcctgggttgctgatAaaactaaaggtgaaaatata	17	11	8	5	0	0	2	0	2	0	0	1	2	1	2	1	2	3	2	1	2	10	6	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.331A>T	p.Lys111Ter	p.K111*	ENST00000408945	4/4	207	182	25	339	339	0	strelka-varscan-mutect	HMSD,stop_gained,p.Lys111Ter,ENST00000408945,NM_001123366.1;HMSD,downstream_gene_variant,,ENST00000526932,;HMSD,non_coding_transcript_exon_variant,,ENST00000481726,;HMSD,non_coding_transcript_exon_variant,,ENST00000498680,;	T	ENST00000408945	Transcript	stop_gained	533/2101	331/420	111/139	K/*	Aaa/Taa		1		1	HMSD	HGNC	HGNC:23037	protein_coding	YES	CCDS42441.1	ENSP00000386207	A8MTL9		UPI00001609A8	NM_001123366.1			4/4		hmmpanther:PTHR11461:SF168,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:3.30.497.10,Superfamily_domains:SSF56574																	HIGH	1	SNV	3			1										PASS		.	.												T	4	4	81	63960266	63960266	A	T	1	0	0	0	0	0	1	0	0	7137	363	13	4		4	HMSD	18	63960266	Nonsense_Mutation	SNP	A	C3N-01489_TP	5041653	63960266	16413019	604	27150											
DOK6	0	.	GRCh38	chr18	69739099	69739099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctagaaatggaacagaaggCccgggtaaggccccttcctt	11	7	12	11	1	0	2	0	0	0	2	1	3	1	3	4	4	1	2	4	4	5	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.734C>A	p.Ala245Asp	p.A245D	ENST00000382713	6/8	89	82	7	128	128	0	strelka-mutect	DOK6,missense_variant,p.Ala245Asp,ENST00000382713,NM_152721.5;DOK6,missense_variant,p.Ala149Asp,ENST00000582992,;DOK6,non_coding_transcript_exon_variant,,ENST00000577609,;DOK6,downstream_gene_variant,,ENST00000584435,;	A	ENST00000382713	Transcript	missense_variant	924/8890	734/996	245/331	A/D	gCc/gAc		1		1	DOK6	HGNC	HGNC:28301	protein_coding	YES	CCDS32841.1	ENSP00000372160	Q6PKX4		UPI000035EC7C	NM_152721.5	tolerated(0.12)		6/8		hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF43,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	69739099	69739099	C	A	1	0	0	0	0	1	0	0	0	4516	753	26	2		2	DOK6	18	69739099	Missense_Mutation	SNP	C	C3N-01489_TP	5778833	69739099	10634186	605	27151											
CTDP1	0	.	GRCh38	chr18	79680174	79680174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgggggctgcgtgcgccCcgcgcggccggaacgcaggc	3	3	18	17	8	0	0	0	0	0	0	1	1	1	1	4	5	3	2	4	5	1	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.227C>T	p.Pro76Leu	p.P76L	ENST00000613122	1/13	65	60	5	79	79	0	strelka-varscan-mutect	CTDP1,missense_variant,p.Pro76Leu,ENST00000613122,NM_004715.4;CTDP1,missense_variant,p.Pro76Leu,ENST00000075430,NM_048368.3;CTDP1,missense_variant,p.Pro8Leu,ENST00000591598,;CTDP1,upstream_gene_variant,,ENST00000299543,NM_001202504.1;CTDP1,upstream_gene_variant,,ENST00000590635,;RP11-567M16.6,upstream_gene_variant,,ENST00000616428,;RP11-567M16.3,upstream_gene_variant,,ENST00000317008,;CTDP1,upstream_gene_variant,,ENST00000587623,;	T	ENST00000613122	Transcript	missense_variant	374/5866	227/2886	76/961	P/L	cCc/cTc		1		1	CTDP1	HGNC	HGNC:2498	protein_coding	YES	CCDS12017.1	ENSP00000484525	Q9Y5B0		UPI000013C57B	NM_004715.4	tolerated(0.05)		1/13		Gene3D:2.40.50.100,hmmpanther:PTHR23081,hmmpanther:PTHR23081:SF0																	MODERATE	1	SNV	1			1										PASS		rs1379116232	.												T	3	4	81	79680174	79680174	C	T	1	0	0	0	0	1	0	0	0	3810	623	22	3		3	CTDP1	18	79680174	Missense_Mutation	SNP	C	C3N-01489_TP	9941075	79680174	693111	606	27152											
CTDP1	0	.	GRCh38	chr18	79715469	79715469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagcgaagatcctcactcGgctggtgctgagccccgacg	7	6	15	13	4	1	2	1	1	0	1	3	5	2	3	3	3	3	2	3	3	1	0	rs752664929		C3N-01489_TP	C3N-01489_NB	G	G																c.2009G>T	p.Arg670Leu	p.R670L	ENST00000613122	8/13	145	137	8	236	234	2	strelka-varscan-mutect	CTDP1,missense_variant,p.Arg670Leu,ENST00000613122,NM_004715.4;CTDP1,missense_variant,p.Arg670Leu,ENST00000075430,NM_048368.3;CTDP1,missense_variant,p.Arg551Leu,ENST00000299543,NM_001202504.1;CTDP1,missense_variant,p.Arg602Leu,ENST00000591598,;	T	ENST00000613122	Transcript	missense_variant	2156/5866	2009/2886	670/961	R/L	cGg/cTg	rs752664929	1		1	CTDP1	HGNC	HGNC:2498	protein_coding	YES	CCDS12017.1	ENSP00000484525	Q9Y5B0		UPI000013C57B	NM_004715.4	deleterious(0.02)		8/13		Gene3D:3.40.50.10190,PROSITE_profiles:PS50172,hmmpanther:PTHR23081,hmmpanther:PTHR23081:SF0,SMART_domains:SM00292,Superfamily_domains:SSF52113																	MODERATE	1	SNV	1			1										PASS		rs752664929	.												T	3	4	81	79715469	79715469	G	T	1	0	0	0	0	1	0	0	0	3810	1116	39	1		1	CTDP1	18	79715469	Missense_Mutation	SNP	G	C3N-01489_TP	35295	79715469	657816	607	27153											
PLPP2	0	.	GRCh38	chr19	282216	282216	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaatcagacacgcgggtgTagcccacgtagagggcaaag	12	6	14	9	3	1	2	1	0	0	2	1	2	1	2	1	2	1	4	1	2	4	3			C3N-01489_TP	C3N-01489_NB	T	T																c.698A>T	p.Tyr233Phe	p.Y233F	ENST00000327790	5/6	257	239	18	379	379	0	strelka-varscan-mutect	PLPP2,missense_variant,p.Tyr233Phe,ENST00000327790,NM_177543.2;PLPP2,missense_variant,p.Tyr212Phe,ENST00000434325,NM_003712.3;PLPP2,missense_variant,p.Tyr156Phe,ENST00000269812,NM_177526.2;PLPP2,missense_variant,p.Tyr156Phe,ENST00000633125,;PLPP2,missense_variant,p.Tyr106Phe,ENST00000586998,;PLPP2,downstream_gene_variant,,ENST00000591572,;PLPP2,non_coding_transcript_exon_variant,,ENST00000621795,;	A	ENST00000327790	Transcript	missense_variant	817/1397	698/930	233/309	Y/F	tAc/tTc	COSM3531909,COSM3531910	1		-1	PLPP2	HGNC	HGNC:9230	protein_coding	YES	CCDS12024.1	ENSP00000329697	O43688		UPI0000168654	NM_177543.2	tolerated(0.09)		5/6		Gene3D:1.20.144.10,Pfam_domain:PF01569,hmmpanther:PTHR10165,hmmpanther:PTHR10165:SF25,SMART_domains:SM00014,Superfamily_domains:SSF48317,Transmembrane_helices:TMhelix											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	81	282216	282216	T	A	1	0	0	0	0	1	0	0	0	12203	1638	57	4		4	PLPP2	19	282216	Missense_Mutation	SNP	T	C3N-01489_TP		282216	58335400	608	27154											
POLRMT	0	.	GRCh38	chr19	619963	619963	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcacaccctacctgcgCggccacgccgctgtacacgt	7	5	11	18	5	0	0	0	0	0	0	0	0	0	0	4	2	3	3	4	2	2	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2881G>T	p.Ala961Ser	p.A961S	ENST00000588649	12/21	120	106	14	197	197	0	strelka-mutect	POLRMT,missense_variant,p.Ala961Ser,ENST00000588649,NM_005035.3;HCN2,downstream_gene_variant,,ENST00000251287,NM_001194.3;POLRMT,downstream_gene_variant,,ENST00000590573,;POLRMT,upstream_gene_variant,,ENST00000590336,;POLRMT,upstream_gene_variant,,ENST00000587057,;POLRMT,downstream_gene_variant,,ENST00000590709,;POLRMT,upstream_gene_variant,,ENST00000589961,;POLRMT,upstream_gene_variant,,ENST00000592633,;	A	ENST00000588649	Transcript	missense_variant	2973/3835	2881/3693	961/1230	A/S	Gcg/Tcg		1		-1	POLRMT	HGNC	HGNC:9200	protein_coding	YES	CCDS12036.1	ENSP00000465759	O00411		UPI000013C68E	NM_005035.3	tolerated(0.06)		12/21		hmmpanther:PTHR10102:SF0,hmmpanther:PTHR10102,Gene3D:1.10.150.20,Pfam_domain:PF00940,Superfamily_domains:SSF56672																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	619963	619963	C	A	1	0	0	0	0	1	0	0	0	12349	782	27	1		1	POLRMT	19	619963	Missense_Mutation	SNP	C	C3N-01489_TP	337747	619963	57997653	609	27155											
PLK5	0	.	GRCh38	chr19	1535196	1535196	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcggagccacggctgcgcCcccaccaccggacagcacct	7	2	11	21	5	0	0	0	0	0	0	0	2	0	2	7	3	3	2	7	3	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.957C>A	p.=	p.A319A	ENST00000334770	13/13	156	119	37	158	156	2	strelka-mutect	PLK5,synonymous_variant,p.=,ENST00000334770,;PLK5,synonymous_variant,p.=,ENST00000454744,NM_001243079.1;PLK5,synonymous_variant,p.=,ENST00000588430,;	A	ENST00000334770	Transcript	synonymous_variant	1846/2106	957/1011	319/336	A	gcC/gcA		1		1	PLK5	HGNC	HGNC:27001	protein_coding	YES	CCDS59328.1	ENSP00000466248	Q496M5		UPI000015FEF2				13/13		hmmpanther:PTHR24345:SF43,hmmpanther:PTHR24345,Gene3D:3.30.1120.30,Superfamily_domains:SSF82615																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	81	1535196	1535196	C	A	1	0	0	0	0	0	0	0	1	12194	610	22	2		2	PLK5	19	1535196	Silent	SNP	C	C3N-01489_TP	915233	1535196	57082420	610	27156											
UQCR11	0	.	GRCh38	chr19	1599560	1599560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catgtgtaggccgtcgggacCctgcgagaggagaggggatg	8	6	19	8	3	0	2	0	0	0	2	1	6	0	4	2	5	1	1	2	5	1	1	rs758492664		C3N-01489_TP	C3N-01489_NB	C	C																c.51G>T	p.Trp17Cys	p.W17C	ENST00000591899	2/3	89	70	19	183	183	0	strelka-varscan-mutect	UQCR11,missense_variant,p.Trp17Cys,ENST00000591899,NM_006830.3;UQCR11,missense_variant,p.Trp17Cys,ENST00000585671,;UQCR11,missense_variant,p.Trp17Cys,ENST00000589880,;UQCR11,splice_region_variant,,ENST00000593029,;UQCR11,splice_region_variant,,ENST00000593264,;AC005943.2,missense_variant,p.Trp17Cys,ENST00000585937,;	A	ENST00000591899	Transcript	missense_variant,splice_region_variant	132/1324	51/171	17/56	W/C	tgG/tgT	rs758492664	1		-1	UQCR11	HGNC	HGNC:30862	protein_coding	YES	CCDS12073.1	ENSP00000467262	O14957		UPI0000137A81	NM_006830.3	deleterious(0)		2/3		hmmpanther:PTHR15420,Gene3D:1.20.5.220,Pfam_domain:PF08997,Superfamily_domains:SSF81518,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs758492664	.												A	3	1	81	1599560	1599560	C	A	1	0	0	0	0	1	0	0	0	17545	637	22	2		2	UQCR11	19	1599560	Missense_Mutation	SNP	C	C3N-01489_TP	64364	1599560	57018056	611	27157											
S1PR4	0	.	GRCh38	chr19	3179822	3179822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctggcccgggccgtcgagGctcactccggagcttccacc	4	6	13	18	4	1	0	1	0	0	0	4	2	3	1	6	4	1	2	6	4	0	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1030G>T	p.Ala344Ser	p.A344S	ENST00000246115	1/1	48	36	12	86	86	0	strelka-varscan-mutect	S1PR4,missense_variant,p.Ala344Ser,ENST00000246115,NM_003775.3;S1PR4,downstream_gene_variant,,ENST00000591346,;	T	ENST00000246115	Transcript	missense_variant	1055/1565	1030/1155	344/384	A/S	Gct/Tct		1		1	S1PR4	HGNC	HGNC:3170	protein_coding	YES	CCDS12105.1	ENSP00000246115	O95977		UPI0000050462	NM_003775.3	tolerated(0.66)		1/1		hmmpanther:PTHR22750:SF13,hmmpanther:PTHR22750,Prints_domain:PR01526																	MODERATE	1	SNV				1										PASS		rs935970379	.												T	3	4	81	3179822	3179822	G	T	1	0	0	0	0	1	0	0	0	14055	1203	42	2		2	S1PR4	19	3179822	Missense_Mutation	SNP	G	C3N-01489_TP	1580262	3179822	55437794	612	27158											
ARRDC5	0	.	GRCh38	chr19	4891096	4891096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactccgtcctctgacagctGgcagatggcagagtccactg	8	8	11	14	1	1	3	0	1	1	2	4	3	4	3	3	2	1	3	3	2	0	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.979C>A	p.Gln327Lys	p.Q327K	ENST00000381781	3/3	127	107	20	227	227	0	strelka-varscan-mutect	ARRDC5,missense_variant,p.Gln327Lys,ENST00000381781,NM_001080523.1;	T	ENST00000381781	Transcript	missense_variant	979/1638	979/1029	327/342	Q/K	Cag/Aag		1		-1	ARRDC5	HGNC	HGNC:31407	protein_coding	YES	CCDS45929.1	ENSP00000371200	A6NEK1		UPI0000DD84C9	NM_001080523.1	tolerated_low_confidence(0.61)		3/3		hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF56																	MODERATE	1	SNV	3			1										PASS		.	.												T	3	4	81	4891096	4891096	G	T	1	0	0	0	0	1	0	0	0	1129	1357	47	2		2	ARRDC5	19	4891096	Missense_Mutation	SNP	G	C3N-01489_TP	1711274	4891096	53726520	613	27159											
MUC16	0	.	GRCh38	chr19	8961549	8961549	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtaatcttcactaggccaGaggtgagaagtgaagtcata	13	10	11	7	0	3	3	2	2	1	2	3	4	3	3	1	2	0	1	1	2	5	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.15221C>G	p.Ser5074Cys	p.S5074C	ENST00000397910	3/84	88	79	9	171	171	0	strelka-varscan-mutect	MUC16,missense_variant,p.Ser5074Cys,ENST00000397910,NM_024690.2;	C	ENST00000397910	Transcript	missense_variant	15425/43816	15221/43524	5074/14507	S/C	tCt/tGt		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	81	8961549	8961549	G	C	1	0	0	0	0	1	0	0	0	9972	942	33	4		4	MUC16	19	8961549	Missense_Mutation	SNP	G	C3N-01489_TP	4070453	8961549	49656067	614	27160											
ZGLP1	0	.	GRCh38	chr19	10308310	10308310	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgtttccggggccttctCtggggtggggccgagggagt	3	10	19	9	2	1	0	0	0	1	0	3	2	2	1	3	7	1	2	3	7	0	2			C3N-01489_TP	C3N-01489_NB	C	C																c.372G>C	p.Gln124His	p.Q124H	ENST00000403903	1/4	82	71	11	102	102	0	strelka-varscan-mutect	ZGLP1,missense_variant,p.Gln124His,ENST00000403903,NM_001103167.1;ZGLP1,missense_variant,p.Gln40His,ENST00000403352,;FDX2,downstream_gene_variant,,ENST00000393708,NM_001031734.3;FDX2,downstream_gene_variant,,ENST00000492239,;FDX2,downstream_gene_variant,,ENST00000494368,;CTD-2369P2.10,3_prime_UTR_variant,,ENST00000452032,;CTD-2369P2.10,downstream_gene_variant,,ENST00000493771,;FDX2,downstream_gene_variant,,ENST00000460631,;FDX2,downstream_gene_variant,,ENST00000453681,;ZGLP1,upstream_gene_variant,,ENST00000480726,;FDX2,downstream_gene_variant,,ENST00000343376,;	G	ENST00000403903	Transcript	missense_variant	1571/2303	372/816	124/271	Q/H	caG/caC	COSM3528156,COSM3528157	1		-1	ZGLP1	HGNC	HGNC:37245	protein_coding	YES	CCDS45959.1	ENSP00000384434	P0C6A0		UPI00001D8262	NM_001103167.1	deleterious(0.01)		1/4		hmmpanther:PTHR10071:SF185,hmmpanther:PTHR10071											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	81	10308310	10308310	C	G	1	0	0	0	0	1	0	0	0	18251	912	32	4		4	ZGLP1	19	10308310	Missense_Mutation	SNP	C	C3N-01489_TP	1346761	10308310	48309306	615	27161											
ZGLP1	0	.	GRCh38	chr19	10308487	10308487	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggggactgacccagcctCtccactgtctcttggaggaa	8	8	12	13	0	2	1	0	1	2	0	4	4	2	4	3	4	1	1	3	4	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.195G>C	p.Glu65Asp	p.E65D	ENST00000403903	1/4	67	57	10	100	100	0	strelka-varscan-mutect	ZGLP1,missense_variant,p.Glu65Asp,ENST00000403903,NM_001103167.1;ZGLP1,5_prime_UTR_variant,,ENST00000403352,;FDX2,downstream_gene_variant,,ENST00000393708,NM_001031734.3;FDX2,downstream_gene_variant,,ENST00000492239,;FDX2,downstream_gene_variant,,ENST00000494368,;CTD-2369P2.10,3_prime_UTR_variant,,ENST00000452032,;CTD-2369P2.10,non_coding_transcript_exon_variant,,ENST00000493771,;FDX2,downstream_gene_variant,,ENST00000460631,;FDX2,downstream_gene_variant,,ENST00000453681,;ZGLP1,upstream_gene_variant,,ENST00000480726,;FDX2,downstream_gene_variant,,ENST00000343376,;	G	ENST00000403903	Transcript	missense_variant	1394/2303	195/816	65/271	E/D	gaG/gaC		1		-1	ZGLP1	HGNC	HGNC:37245	protein_coding	YES	CCDS45959.1	ENSP00000384434	P0C6A0		UPI00001D8262	NM_001103167.1	deleterious(0.04)		1/4		hmmpanther:PTHR10071:SF185,hmmpanther:PTHR10071																	MODERATE	1	SNV	1			1										PASS		rs1333824260	.												G	3	3	81	10308487	10308487	C	G	1	0	0	0	0	1	0	0	0	18251	912	32	4		4	ZGLP1	19	10308487	Missense_Mutation	SNP	C	C3N-01489_TP	177	10308487	48309129	616	27162											
GCDH	0	.	GRCh38	chr19	12891928	12891928	+	Frame_Shift_Del	DEL	C	C	-																															gacaccttccgcacctactgCcaggagagactcatgcctcg																								novel		C3N-01489_TP	C3N-01489_NB	C	C																c.226delC	p.Gln76ArgfsTer66	p.Q76Rfs*66	ENST00000222214	4/12	443	385	58	736	736	0	sindel-varindel-pindel	GCDH,frameshift_variant,p.Gln76ArgfsTer66,ENST00000222214,NM_000159.3,NM_013976.3;GCDH,frameshift_variant,p.Gln76ArgfsTer66,ENST00000591470,;GCDH,frameshift_variant,p.Gln64ArgfsTer66,ENST00000588905,;GCDH,frameshift_variant,p.Gln76ArgfsTer45,ENST00000589039,;GCDH,frameshift_variant,p.Gln76ArgfsTer47,ENST00000587072,;KLF1,upstream_gene_variant,,ENST00000264834,NM_006563.3;GCDH,frameshift_variant,p.Gln76ArgfsTer382,ENST00000590530,;GCDH,3_prime_UTR_variant,,ENST00000590445,;GCDH,non_coding_transcript_exon_variant,,ENST00000591043,;GCDH,non_coding_transcript_exon_variant,,ENST00000585420,;GCDH,non_coding_transcript_exon_variant,,ENST00000421816,;GCDH,non_coding_transcript_exon_variant,,ENST00000590627,;GCDH,non_coding_transcript_exon_variant,,ENST00000587832,;GCDH,non_coding_transcript_exon_variant,,ENST00000585760,;RPS6P25,upstream_gene_variant,,ENST00000464444,;	-	ENST00000222214	Transcript	frameshift_variant	436/1956	225/1317	75/438	C/X	tgC/tg		1		1	GCDH	HGNC	HGNC:4189	protein_coding	YES	CCDS12286.1	ENSP00000222214	Q92947	A0A024R7F9	UPI000012B292	NM_000159.3,NM_013976.3			4/12		hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF307,Pfam_domain:PF02771,Gene3D:1.10.540.10,Superfamily_domains:SSF56645																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	81	12891928	12891928	C	-	1	0	1	0	1	0	0	0	0	6157	747	26	0		0	GCDH	19	12891928	Frame_Shift_Del	DEL	C	C3N-01489_TP	2583441	12891928	45725688	617	27163											
ADGRL1	0	.	GRCh38	chr19	14152142	14152142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacacttactgggttcccGgtagctccctgcaggtggca	6	10	12	13	1	1	0	1	0	0	0	3	0	3	0	2	4	3	5	2	4	2	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.3673C>T	p.Arg1225Trp	p.R1225W	ENST00000340736	23/24	235	200	35	366	362	4	strelka-varscan-mutect	ADGRL1,missense_variant,p.Arg1225Trp,ENST00000340736,NM_001008701.2;ADGRL1,missense_variant,p.Arg1220Trp,ENST00000361434,NM_014921.4;ADGRL1,missense_variant,p.Arg126Trp,ENST00000592164,;ADGRL1,intron_variant,,ENST00000593005,;CTB-55O6.12,intron_variant,,ENST00000588387,;CTB-55O6.12,intron_variant,,ENST00000588658,;CTB-55O6.12,upstream_gene_variant,,ENST00000592086,;	A	ENST00000340736	Transcript	missense_variant	3971/7853	3673/4425	1225/1474	R/W	Cgg/Tgg		1		-1	ADGRL1	HGNC	HGNC:20973	protein_coding	YES	CCDS32928.1	ENSP00000340688	O94910		UPI000005046A	NM_001008701.2	deleterious(0.01)		23/24		Pfam_domain:PF02354																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	14152142	14152142	G	A	1	0	0	0	0	1	0	0	0	375	1115	39	1		1	ADGRL1	19	14152142	Missense_Mutation	SNP	G	C3N-01489_TP	1260214	14152142	44465474	618	27164											
OR10H1	0	.	GRCh38	chr19	15807640	15807640	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgcgggctcatgagcacgTtgtagcgcagggggtggcag	6	6	18	11	4	1	1	1	1	0	0	1	1	1	1	1	4	2	6	1	4	1	2	rs551484315		C3N-01489_TP	C3N-01489_NB	T	T																c.398A>C	p.Asn133Thr	p.N133T	ENST00000334920	1/1	111	89	22	194	194	0	strelka-varscan-mutect	OR10H1,missense_variant,p.Asn133Thr,ENST00000334920,NM_013940.2;	G	ENST00000334920	Transcript	missense_variant	487/1124	398/957	133/318	N/T	aAc/aCc	rs551484315	1		-1	OR10H1	HGNC	HGNC:8172	protein_coding	YES	CCDS12335.1	ENSP00000335596	Q9Y4A9	A0A126GVU5	UPI000004CA3D	NM_013940.2	tolerated(0.57)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF122,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs551484315	.												G	3	3	81	15807640	15807640	T	G	1	0	0	0	0	1	0	0	0	10982	1725	60	5		5	OR10H1	19	15807640	Missense_Mutation	SNP	T	C3N-01489_TP	1655498	15807640	42809976	619	27165											
MYO9B	0	.	GRCh38	chr19	17195244	17195244	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgcccccgagacccccGaggacaagagcaaaccatgt	12	2	11	16	3	0	2	0	0	0	2	0	5	0	3	5	1	3	2	5	1	2	0	rs777317964		C3N-01489_TP	C3N-01489_NB	G	G																c.3817G>T	p.Glu1273Ter	p.E1273*	ENST00000595618	22/40	448	406	42	698	697	1	strelka-varscan-mutect	MYO9B,stop_gained,p.Glu1273Ter,ENST00000595618,NM_001130065.1;MYO9B,stop_gained,p.Glu1273Ter,ENST00000594824,NM_004145.3;MYO9B,stop_gained,p.Glu1273Ter,ENST00000397274,;MYO9B,stop_gained,p.Glu1273Ter,ENST00000595641,;MYO9B,upstream_gene_variant,,ENST00000593533,;	T	ENST00000595618	Transcript	stop_gained	3969/7623	3817/6069	1273/2022	E/*	Gag/Tag	rs777317964	1		1	MYO9B	HGNC	HGNC:7609	protein_coding	YES	CCDS46010.1	ENSP00000471457	Q13459		UPI000020367C	NM_001130065.1			22/40																			HIGH	1	SNV	1			1										PASS		rs777317964	.												T	4	4	81	17195244	17195244	G	T	1	0	0	0	0	0	1	0	0	10086	1059	37	1		1	MYO9B	19	17195244	Nonsense_Mutation	SNP	G	C3N-01489_TP	1387604	17195244	41422372	620	27166											
MYO9B	0	.	GRCh38	chr19	17195319	17195319	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaggctccacgcagatcCagcggtacctggacgccgag	8	4	14	15	5	0	1	0	0	0	1	2	4	2	3	5	4	2	3	5	4	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.3892C>T	p.Gln1298Ter	p.Q1298*	ENST00000595618	22/40	495	424	71	669	668	1	strelka-varscan-mutect	MYO9B,stop_gained,p.Gln1298Ter,ENST00000595618,NM_001130065.1;MYO9B,stop_gained,p.Gln1298Ter,ENST00000594824,NM_004145.3;MYO9B,stop_gained,p.Gln1298Ter,ENST00000397274,;MYO9B,stop_gained,p.Gln1298Ter,ENST00000595641,;MYO9B,upstream_gene_variant,,ENST00000593533,;	T	ENST00000595618	Transcript	stop_gained	4044/7623	3892/6069	1298/2022	Q/*	Cag/Tag		1		1	MYO9B	HGNC	HGNC:7609	protein_coding	YES	CCDS46010.1	ENSP00000471457	Q13459		UPI000020367C	NM_001130065.1			22/40																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	81	17195319	17195319	C	T	1	0	0	0	0	0	1	0	0	10086	595	21	3		3	MYO9B	19	17195319	Nonsense_Mutation	SNP	C	C3N-01489_TP	75	17195319	41422297	621	27167											
FCHO1	0	.	GRCh38	chr19	17774419	17774419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacgtttgcggggagccaaGgcctttcgccttccaggact	8	9	12	12	3	0	0	0	0	0	0	2	2	1	2	4	4	3	1	4	4	2	3			C3N-01489_TP	C3N-01489_NB	G	G																c.861G>T	p.Lys287Asn	p.K287N	ENST00000594202	13/29	122	99	23	185	185	0	strelka-varscan-mutect	FCHO1,missense_variant,p.Lys287Asn,ENST00000594202,NM_001161357.1;FCHO1,missense_variant,p.Lys287Asn,ENST00000596536,NM_015122.2;FCHO1,missense_variant,p.Lys287Asn,ENST00000252771,;FCHO1,missense_variant,p.Lys287Asn,ENST00000600676,NM_001161358.1;FCHO1,missense_variant,p.Lys287Asn,ENST00000596951,;FCHO1,missense_variant,p.Lys294Asn,ENST00000597512,;FCHO1,missense_variant,p.Lys237Asn,ENST00000595033,NM_001161359.1;FCHO1,downstream_gene_variant,,ENST00000595023,;FCHO1,downstream_gene_variant,,ENST00000596507,;FCHO1,downstream_gene_variant,,ENST00000597718,;FCHO1,downstream_gene_variant,,ENST00000600209,;FCHO1,downstream_gene_variant,,ENST00000594068,;FCHO1,downstream_gene_variant,,ENST00000595549,;FCHO1,downstream_gene_variant,,ENST00000593833,;FCHO1,downstream_gene_variant,,ENST00000597474,;FCHO1,non_coding_transcript_exon_variant,,ENST00000600393,;FCHO1,non_coding_transcript_exon_variant,,ENST00000597076,;FCHO1,upstream_gene_variant,,ENST00000600058,;FCHO1,upstream_gene_variant,,ENST00000595594,;FCHO1,upstream_gene_variant,,ENST00000602111,;FCHO1,upstream_gene_variant,,ENST00000599766,;FCHO1,upstream_gene_variant,,ENST00000596522,;	T	ENST00000594202	Transcript	missense_variant	1140/3214	861/2676	287/891	K/N	aaG/aaT	COSM992893	1		1	FCHO1	HGNC	HGNC:29002	protein_coding	YES	CCDS59365.1	ENSP00000473001		A0A0C3SFZ9	UPI000059D6B0	NM_001161357.1	deleterious(0.01)		13/29		hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF6											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	81	17774419	17774419	G	T	1	0	0	0	0	1	0	0	0	5649	991	35	2		2	FCHO1	19	17774419	Missense_Mutation	SNP	G	C3N-01489_TP	579100	17774419	40843197	622	27168											
HAPLN4	0	.	GRCh38	chr19	19260876	19260876	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attggtgacttcgcactcatAgcgcccgtagtcttgcagcg	7	11	11	12	4	2	1	1	1	1	0	3	1	2	1	1	1	3	3	1	1	2	5	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.421T>C	p.Tyr141His	p.Y141H	ENST00000291481	3/5	176	148	28	228	228	0	strelka-varscan-mutect	HAPLN4,missense_variant,p.Tyr141His,ENST00000291481,NM_023002.2;TM6SF2,downstream_gene_variant,,ENST00000389363,NM_001001524.2;LLNLR-259H9.1,downstream_gene_variant,,ENST00000624068,;AC138430.4,non_coding_transcript_exon_variant,,ENST00000586064,;HAPLN4,non_coding_transcript_exon_variant,,ENST00000592862,;TM6SF2,downstream_gene_variant,,ENST00000431465,;TM6SF2,downstream_gene_variant,,ENST00000591001,;TM6SF2,downstream_gene_variant,,ENST00000590431,;	G	ENST00000291481	Transcript	missense_variant	485/3449	421/1209	141/402	Y/H	Tat/Cat		1		-1	HAPLN4	HGNC	HGNC:31357	protein_coding	YES	CCDS12398.1	ENSP00000291481	Q86UW8		UPI00000496C7	NM_023002.2	deleterious(0)		3/5		PROSITE_profiles:PS50835,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF11,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00408,SMART_domains:SM00406,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	19260876	19260876	A	G	1	0	0	0	0	1	0	0	0	6843	420	15	5		5	HAPLN4	19	19260876	Missense_Mutation	SNP	A	C3N-01489_TP	1486457	19260876	39356740	623	27169											
CILP2	0	.	GRCh38	chr19	19545299	19545299	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccttccgagagggcacAcctgcctcctggactggcga	6	7	12	16	2	0	1	0	0	0	1	3	4	3	2	6	3	1	1	6	3	0	1	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.2754A>T	p.=	p.T918T	ENST00000291495	8/8	130	112	18	229	228	1	strelka-varscan-mutect	CILP2,synonymous_variant,p.=,ENST00000586018,;CILP2,synonymous_variant,p.=,ENST00000291495,NM_153221.2;CILP2,downstream_gene_variant,,ENST00000588333,;	T	ENST00000291495	Transcript	synonymous_variant	2839/4199	2754/3471	918/1156	T	acA/acT		1		1	CILP2	HGNC	HGNC:24213	protein_coding	YES	CCDS12405.1	ENSP00000291495	Q8IUL8		UPI000013E04D	NM_153221.2			8/8		hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF0																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	19545299	19545299	A	T	1	0	0	0	0	0	0	0	1	3192	146	6	4		4	CILP2	19	19545299	Silent	SNP	A	C3N-01489_TP	284423	19545299	39072317	624	27170											
ZNF729	0	.	GRCh38	chr19	22316567	22316567	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagaaaccctacaaatgTgaagaatgtggtaaagcttt	15	9	12	5	0	0	3	0	1	0	2	0	4	0	3	1	3	3	2	1	3	7	3	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.3150T>A	p.Cys1050Ter	p.C1050*	ENST00000601693	4/4	156	133	23	312	312	0	strelka-varscan-mutect	ZNF729,stop_gained,p.Cys1050Ter,ENST00000601693,NM_001242680.1;	A	ENST00000601693	Transcript	stop_gained	3268/3877	3150/3759	1050/1252	C/*	tgT/tgA		1		1	ZNF729	HGNC	HGNC:32464	protein_coding	YES	CCDS59368.1	ENSP00000469582	A6NN14		UPI000042600C	NM_001242680.1			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	81	22316567	22316567	T	A	1	0	0	0	0	0	1	0	0	18703	1702	59	4		4	ZNF729	19	22316567	Nonsense_Mutation	SNP	T	C3N-01489_TP	2771268	22316567	36301049	625	27171											
ZNF729	0	.	GRCh38	chr19	22316929	22316929	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggcaaagcctttaaccAgtcctcacaccttactagac	12	10	6	13	0	1	1	1	0	0	1	2	1	2	1	4	1	3	1	4	1	4	4	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.3512A>T	p.Gln1171Leu	p.Q1171L	ENST00000601693	4/4	251	221	30	421	421	0	strelka-varscan-mutect	ZNF729,missense_variant,p.Gln1171Leu,ENST00000601693,NM_001242680.1;	T	ENST00000601693	Transcript	missense_variant	3630/3877	3512/3759	1171/1252	Q/L	cAg/cTg		1		1	ZNF729	HGNC	HGNC:32464	protein_coding	YES	CCDS59368.1	ENSP00000469582	A6NN14		UPI000042600C	NM_001242680.1	tolerated(0.34)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	81	22316929	22316929	A	T	1	0	0	0	0	1	0	0	0	18703	188	7	4		4	ZNF729	19	22316929	Missense_Mutation	SNP	A	C3N-01489_TP	362	22316929	36300687	626	27172											
ANKRD27	0	.	GRCh38	chr19	32619273	32619273	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctcacctctctgtagtccTtcttggtctcctcctgcctt	2	16	6	17	0	4	0	1	0	3	0	8	0	6	0	6	1	1	1	6	1	1	4	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.1994A>T	p.Lys665Met	p.K665M	ENST00000306065	20/29	60	56	4	108	108	0	varscan-mutect	ANKRD27,missense_variant,p.Lys665Met,ENST00000306065,NM_032139.2;	A	ENST00000306065	Transcript	missense_variant	2153/4450	1994/3153	665/1050	K/M	aAg/aTg		1		-1	ANKRD27	HGNC	HGNC:25310	protein_coding	YES	CCDS32986.1	ENSP00000304292	Q96NW4		UPI000004FDE9	NM_032139.2	deleterious(0.04)		20/29		PROSITE_profiles:PS50297,hmmpanther:PTHR24170,hmmpanther:PTHR24170:SF1,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	32619273	32619273	T	A	1	0	0	0	0	1	0	0	0	758	1609	56	4		4	ANKRD27	19	32619273	Missense_Mutation	SNP	T	C3N-01489_TP	10302344	32619273	25998343	627	27173											
PDCD2L	0	.	GRCh38	chr19	34413838	34413838	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgctgcttgtcaggagcAgattttgaggtaaaaaaagg	14	11	12	4	0	1	2	1	1	0	1	1	3	1	3	0	3	3	4	0	3	5	5	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.788A>T	p.Gln263Leu	p.Q263L	ENST00000246535	5/7	100	85	15	165	165	0	strelka-varscan-mutect	PDCD2L,missense_variant,p.Gln263Leu,ENST00000246535,NM_032346.1;PDCD2L,intron_variant,,ENST00000587065,;RP11-618P17.4,downstream_gene_variant,,ENST00000606020,;RP11-618P17.4,downstream_gene_variant,,ENST00000592740,;PDCD2L,non_coding_transcript_exon_variant,,ENST00000587385,;PDCD2L,non_coding_transcript_exon_variant,,ENST00000585821,;	T	ENST00000246535	Transcript	missense_variant	835/1171	788/1077	263/358	Q/L	cAg/cTg		1		1	PDCD2L	HGNC	HGNC:28194	protein_coding	YES	CCDS12438.1	ENSP00000246535	Q9BRP1		UPI0000038A65	NM_032346.1	deleterious(0)		5/7		Pfam_domain:PF04194,hmmpanther:PTHR12298																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	34413838	34413838	A	T	1	0	0	0	0	1	0	0	0	11708	188	7	4		4	PDCD2L	19	34413838	Missense_Mutation	SNP	A	C3N-01489_TP	1794565	34413838	24203778	628	27174											
GRAMD1A	0	.	GRCh38	chr19	35019249	35019249	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagcgccgggtgctgacGtacaccatccccatcagcaa	10	5	9	17	3	1	1	1	1	0	0	2	1	2	1	5	1	4	3	5	1	2	1	rs777595203		C3N-01489_TP	C3N-01489_NB	G	G																c.1272G>T	p.=	p.T424T	ENST00000317991	12/20	59	51	8	112	112	0	strelka-varscan-mutect	GRAMD1A,synonymous_variant,p.=,ENST00000599564,NM_001320036.1;GRAMD1A,synonymous_variant,p.=,ENST00000317991,NM_001320034.1,NM_020895.3;GRAMD1A,synonymous_variant,p.=,ENST00000411896,NM_001136199.1;CTD-2527I21.14,intron_variant,,ENST00000605640,;GRAMD1A,3_prime_UTR_variant,,ENST00000600231,NM_001320035.1;GRAMD1A,non_coding_transcript_exon_variant,,ENST00000598118,;GRAMD1A,downstream_gene_variant,,ENST00000595596,;GRAMD1A,downstream_gene_variant,,ENST00000598362,;GRAMD1A,upstream_gene_variant,,ENST00000603907,;	T	ENST00000317991	Transcript	synonymous_variant	1464/2695	1272/2175	424/724	T	acG/acT	rs777595203,COSM5480118	1		1	GRAMD1A	HGNC	HGNC:29305	protein_coding	YES	CCDS42546.1	ENSP00000441032	Q96CP6		UPI00000377B4	NM_001320034.1,NM_020895.3			12/20		Pfam_domain:PF16016,hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF8											0,1						LOW	1	SNV	1		0,1	1										PASS		rs777595203	.												T	2	4	81	35019249	35019249	G	T	1	0	0	0	0	0	0	0	1	6626	1132	40	1		1	GRAMD1A	19	35019249	Silent	SNP	G	C3N-01489_TP	605411	35019249	23598367	629	27175											
GPR42	0	.	GRCh38	chr19	35372290	35372290	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagcagcatggagctgaagGagcagaagggaggggaggag	14	2	21	4	0	0	3	0	1	0	2	0	8	0	8	0	6	4	4	0	6	2	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.931G>T	p.Glu311Ter	p.E311*	ENST00000597214	1/1	117	103	14	163	163	0	varscan-mutect	GPR42,stop_gained,p.Glu311Ter,ENST00000454971,;GPR42,stop_gained,p.Glu311Ter,ENST00000597214,;	T	ENST00000597214	Transcript	stop_gained	1001/1182	931/1041	311/346	E/*	Gag/Tag		1		1	GPR42	HGNC	HGNC:4500	protein_coding	YES		ENSP00000473212	O15529	A0A0K0PUY3	UPI0000040740				1/1		hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF40																	HIGH	1	SNV				1										PASS		.	.												T	4	4	81	35372290	35372290	G	T	1	0	0	0	0	0	1	0	0	6580	1175	41	2		2	GPR42	19	35372290	Nonsense_Mutation	SNP	G	C3N-01489_TP	353041	35372290	23245326	630	27176											
ATP4A	0	.	GRCh38	chr19	35562506	35562506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggcagatggcggcggcaaCccacatgaggcactgcaggc	10	3	16	12	2	0	2	0	1	0	1	0	3	0	2	1	6	2	4	1	6	1	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.349G>T	p.Val117Phe	p.V117F	ENST00000262623	4/22	186	170	16	296	296	0	strelka-varscan-mutect	ATP4A,missense_variant,p.Val117Phe,ENST00000262623,NM_000704.2;ATP4A,non_coding_transcript_exon_variant,,ENST00000590916,;ATP4A,upstream_gene_variant,,ENST00000592131,;ATP4A,upstream_gene_variant,,ENST00000592767,;	A	ENST00000262623	Transcript	missense_variant	378/3709	349/3108	117/1035	V/F	Gtt/Ttt		1		-1	ATP4A	HGNC	HGNC:819	protein_coding	YES	CCDS12467.1	ENSP00000262623	P20648		UPI000016A49B	NM_000704.2	deleterious(0.04)		4/22		Transmembrane_helices:TMhelix,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251,TIGRFAM_domain:TIGR01106,Pfam_domain:PF00690,SMART_domains:SM00831,Superfamily_domains:0049473,Prints_domain:PR00121																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	35562506	35562506	C	A	1	0	0	0	0	1	0	0	0	1298	507	18	2		2	ATP4A	19	35562506	Missense_Mutation	SNP	C	C3N-01489_TP	190216	35562506	23055110	631	27177											
PRODH2	0	.	GRCh38	chr19	35803023	35803023	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccaccatgaggtggcAcatggggccatggcgggcca	9	4	17	11	1	0	1	0	1	0	0	0	2	0	2	4	7	1	1	4	7	1	0	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.1285T>A	p.Cys429Ser	p.C429S	ENST00000301175	9/11	78	73	5	79	79	0	strelka-varscan-mutect	PRODH2,missense_variant,p.Cys429Ser,ENST00000301175,NM_021232.1;PRODH2,missense_variant,p.Cys25Ser,ENST00000589835,;PRODH2,missense_variant,p.Cys94Ser,ENST00000588266,;PRODH2,non_coding_transcript_exon_variant,,ENST00000587695,;PRODH2,upstream_gene_variant,,ENST00000587808,;	T	ENST00000301175	Transcript	missense_variant	1303/1677	1285/1611	429/536	C/S	Tgc/Agc		1		-1	PRODH2	HGNC	HGNC:17325	protein_coding	YES	CCDS12478.1	ENSP00000301175	Q9UF12		UPI000006EE59	NM_021232.1	tolerated(0.14)		9/11		hmmpanther:PTHR13914,hmmpanther:PTHR13914:SF5,Pfam_domain:PF01619,Gene3D:3.20.20.220,Superfamily_domains:SSF51730																	MODERATE	1	SNV	1			1										PASS		rs1436746097	.												T	3	4	81	35803023	35803023	A	T	1	0	0	0	0	1	0	0	0	12682	159	6	4		4	PRODH2	19	35803023	Missense_Mutation	SNP	A	C3N-01489_TP	240517	35803023	22814593	632	27178											
KIRREL2	0	.	GRCh38	chr19	35857144	35857144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatgcgggtccccgccCtcctcgtcctcctcttctgc	2	11	9	19	3	3	0	1	0	2	0	8	1	7	1	6	2	2	0	6	2	0	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.25C>T	p.Leu9Phe	p.L9F	ENST00000360202	1/15	178	158	20	260	260	0	strelka-varscan-mutect	KIRREL2,missense_variant,p.Leu9Phe,ENST00000360202,NM_199180.3;KIRREL2,missense_variant,p.Leu9Phe,ENST00000592409,;KIRREL2,missense_variant,p.Leu9Phe,ENST00000347900,NM_199179.3;KIRREL2,missense_variant,p.Leu9Phe,ENST00000262625,NM_032123.6;KIRREL2,missense_variant,p.Leu9Phe,ENST00000586102,;NPHS1,intron_variant,,ENST00000591817,;	T	ENST00000360202	Transcript	missense_variant	223/2942	25/2127	9/708	L/F	Ctc/Ttc		1		1	KIRREL2	HGNC	HGNC:18816	protein_coding	YES	CCDS12481.1	ENSP00000353331	Q6UWL6		UPI0000048F5B	NM_199180.3	tolerated(0.06)		1/15		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF51																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	35857144	35857144	C	T	1	0	0	0	0	1	0	0	0	8189	681	24	3		3	KIRREL2	19	35857144	Missense_Mutation	SNP	C	C3N-01489_TP	54121	35857144	22760472	633	27179											
ZNF585A	0	.	GRCh38	chr19	37152764	37152764	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcattcataaggtttctCtccagtgtgaattctctgat	9	16	7	9	0	3	2	1	2	2	0	6	2	4	2	1	1	1	2	1	1	2	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1135G>T	p.Glu379Ter	p.E379*	ENST00000292841	5/5	113	96	17	172	172	0	strelka-varscan-mutect	ZNF585A,stop_gained,p.Glu379Ter,ENST00000292841,NM_001288800.1;ZNF585A,stop_gained,p.Glu324Ter,ENST00000356958,NM_152655.3;ZNF585A,stop_gained,p.Glu324Ter,ENST00000392157,NM_199126.2;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585A,intron_variant,,ENST00000588723,;ZNF585A,intron_variant,,ENST00000587817,;CTC-454I21.3,downstream_gene_variant,,ENST00000590245,;	A	ENST00000292841	Transcript	stop_gained	1394/8618	1135/2310	379/769	E/*	Gag/Tag		1		-1	ZNF585A	HGNC	HGNC:26305	protein_coding	YES	CCDS74353.1	ENSP00000292841	Q6P3V2		UPI00002021E7	NM_001288800.1			5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF105,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	81	37152764	37152764	C	A	1	0	0	0	0	0	1	0	0	18591	922	32	2		2	ZNF585A	19	37152764	Nonsense_Mutation	SNP	C	C3N-01489_TP	1295620	37152764	21464852	634	27180											
ZNF585B	0	.	GRCh38	chr19	37186250	37186250	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctctccagtatgaattatTtgatgtgtaatcaagtgtgc	10	17	8	6	0	2	2	1	2	1	0	4	2	3	2	1	0	1	2	1	0	5	5	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.1287A>T	p.Gln429His	p.Q429H	ENST00000532828	5/5	116	97	19	200	200	0	strelka-varscan-mutect	ZNF585B,missense_variant,p.Gln429His,ENST00000532828,NM_152279.3;ZNF585B,missense_variant,p.Gln374His,ENST00000531805,;ZNF585B,3_prime_UTR_variant,,ENST00000527838,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585B,downstream_gene_variant,,ENST00000591492,;ZNF585B,downstream_gene_variant,,ENST00000586320,;CTC-454I21.3,intron_variant,,ENST00000585860,;CTC-454I21.3,intron_variant,,ENST00000590245,;ZNF585B,downstream_gene_variant,,ENST00000392156,;ZNF585B,downstream_gene_variant,,ENST00000591273,;ZNF585B,downstream_gene_variant,,ENST00000526705,;	A	ENST00000532828	Transcript	missense_variant	1539/6210	1287/2310	429/769	Q/H	caA/caT		1		-1	ZNF585B	HGNC	HGNC:30948	protein_coding	YES	CCDS12500.1	ENSP00000433773	Q52M93		UPI00001AF01B	NM_152279.3	deleterious(0.04)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF105,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	37186250	37186250	T	A	1	0	0	0	0	1	0	0	0	18592	1838	64	4		4	ZNF585B	19	37186250	Missense_Mutation	SNP	T	C3N-01489_TP	33486	37186250	21431366	635	27181											
ZNF573	0	.	GRCh38	chr19	37738804	37738804	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgaactacgtctaaaGgtcttcccacattccttaca	11	12	7	11	1	2	1	0	1	2	0	4	1	4	1	2	2	3	0	2	2	5	5	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1686C>A	p.=	p.T562T	ENST00000536220	5/5	112	102	10	176	175	1	strelka-varscan-mutect	ZNF573,synonymous_variant,p.=,ENST00000392138,;ZNF573,synonymous_variant,p.=,ENST00000536220,NM_001172691.1,NM_001172690.1;ZNF573,synonymous_variant,p.=,ENST00000590414,;ZNF573,synonymous_variant,p.=,ENST00000357309,NM_001172692.1,NM_001172689.1;ZNF573,synonymous_variant,p.=,ENST00000339503,NM_152360.3;ZNF573,downstream_gene_variant,,ENST00000378445,;ZNF573,downstream_gene_variant,,ENST00000585724,;ZNF573,intron_variant,,ENST00000590674,;ZNF573,3_prime_UTR_variant,,ENST00000589632,;ZNF573,3_prime_UTR_variant,,ENST00000586155,;ZNF573,downstream_gene_variant,,ENST00000489148,;ZNF573,downstream_gene_variant,,ENST00000591516,;	T	ENST00000536220	Transcript	synonymous_variant	1755/2257	1686/1998	562/665	T	acC/acA		1		-1	ZNF573	HGNC	HGNC:26420	protein_coding	YES	CCDS59381.1	ENSP00000440464	Q86YE8		UPI000059D70C	NM_001172691.1,NM_001172690.1			5/5		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF159,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	LOW	1	SNV	3			1										PASS		rs1429501030	.												T	2	4	81	37738804	37738804	G	T	1	0	0	0	0	0	0	0	1	18579	987	35	2		2	ZNF573	19	37738804	Silent	SNP	G	C3N-01489_TP	552554	37738804	20878812	636	27182											
KCNK6	0	.	GRCh38	chr19	38326630	38326630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactgactgatgcgggcaaGgccttctccatcgcctttgc	6	10	10	15	2	1	2	0	2	1	0	3	2	1	2	4	2	2	1	4	2	1	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.360G>T	p.Lys120Asn	p.K120N	ENST00000263372	2/3	101	85	16	158	158	0	strelka-varscan-mutect	KCNK6,missense_variant,p.Lys120Asn,ENST00000263372,NM_004823.1;KCNK6,downstream_gene_variant,,ENST00000588137,;	T	ENST00000263372	Transcript	missense_variant	467/5722	360/942	120/313	K/N	aaG/aaT		1		1	KCNK6	HGNC	HGNC:6281	protein_coding	YES	CCDS12513.1	ENSP00000263372	Q9Y257	B2RDS2	UPI0000030CB7	NM_004823.1	deleterious(0)		2/3		Gene3D:1.10.287.70,Pfam_domain:PF07885,PIRSF_domain:PIRSF038061,Prints_domain:PR01333,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF28,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	38326630	38326630	G	T	1	0	0	0	0	1	0	0	0	7987	991	35	2		2	KCNK6	19	38326630	Missense_Mutation	SNP	G	C3N-01489_TP	587826	38326630	20290986	637	27183											
RYR1	0	.	GRCh38	chr19	38448426	38448426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactaccgggcagtacctagCgctcaccgaggaccagggcc	9	4	12	16	3	1	0	1	0	0	0	1	2	1	1	5	3	3	3	5	3	3	3	rs200572262		C3N-01489_TP	C3N-01489_NB	C	C																c.872C>A	p.Ala291Glu	p.A291E	ENST00000359596	10/106	355	305	50	491	491	0	strelka-varscan-mutect	RYR1,missense_variant,p.Ala291Glu,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Ala291Glu,ENST00000359596,NM_000540.2;	A	ENST00000359596	Transcript	missense_variant	872/15117	872/15117	291/5038	A/E	gCg/gAg	rs200572262,COSM371085	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2	deleterious(0.01)		10/106		PROSITE_profiles:PS50919,hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF02815,Gene3D:2.80.10.50,SMART_domains:SM00472,Superfamily_domains:SSF82109											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs200572262	.												A	3	1	81	38448426	38448426	C	A	1	0	0	0	0	1	0	0	0	14028	768	27	1		1	RYR1	19	38448426	Missense_Mutation	SNP	C	C3N-01489_TP	121796	38448426	20169190	638	27184											
RYR1	0	.	GRCh38	chr19	38500655	38500655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggatccgcgccatcctccGctcccttgtgcccttggagg	3	9	12	17	4	0	0	0	0	0	0	4	2	4	2	6	3	1	1	6	3	0	2	rs121918594		C3N-01489_TP	C3N-01489_NB	G	G																c.7373G>T	p.Arg2458Leu	p.R2458L	ENST00000359596	46/106	408	354	54	490	490	0	strelka-varscan-mutect	RYR1,missense_variant,p.Arg2458Leu,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Arg2458Leu,ENST00000359596,NM_000540.2;RYR1,missense_variant,p.Arg276Leu,ENST00000594335,;	T	ENST00000359596	Transcript	missense_variant	7373/15117	7373/15117	2458/5038	R/L	cGc/cTc	rs121918594,CM118674,CM981783,RYR1:c.7373G>A,COSM5471002	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2	deleterious(0.01)		46/106		hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715										pathogenic	0,0,0,0,1	16917943					MODERATE	1	SNV	5		1,1,1,0,1	1										PASS		rs121918594	.												T	3	4	81	38500655	38500655	G	T	1	0	0	0	0	1	0	0	0	14028	1087	38	1		1	RYR1	19	38500655	Missense_Mutation	SNP	G	C3N-01489_TP	52229	38500655	20116961	639	27185											
ZNF780B	0	.	GRCh38	chr19	40035450	40035450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttacattcaaagggtttcCcaccagtatgaatttggcaa	12	13	7	9	0	1	1	1	1	0	0	2	1	2	1	2	2	1	3	2	2	5	6	rs775945014		C3N-01489_TP	C3N-01489_NB	C	C																c.1409G>A	p.Gly470Glu	p.G470E	ENST00000434248	5/5	244	211	33	307	306	1	strelka-varscan-mutect	ZNF780B,missense_variant,p.Gly470Glu,ENST00000434248,;ZNF780B,missense_variant,p.Gly470Glu,ENST00000617676,NM_001005851.2;ZNF780B,missense_variant,p.Gly322Glu,ENST00000221355,;ZNF780B,downstream_gene_variant,,ENST00000598845,;ZNF780B,downstream_gene_variant,,ENST00000595995,;	T	ENST00000434248	Transcript	missense_variant	1475/8665	1409/2502	470/833	G/E	gGg/gAg	rs775945014	1		-1	ZNF780B	HGNC	HGNC:33109	protein_coding	YES	CCDS46077.1	ENSP00000391641	Q9Y6R6	A0A024R0P7	UPI000007137F		tolerated(1)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF203,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		rs775945014	.												T	3	4	81	40035450	40035450	C	T	1	0	0	0	0	1	0	0	0	18736	623	22	3		3	ZNF780B	19	40035450	Missense_Mutation	SNP	C	C3N-01489_TP	1534795	40035450	18582166	640	27186											
CYP2B6	0	.	GRCh38	chr19	41010053	41010053	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacctcaacacgctctcGctcttctttgctggcactga	7	12	6	16	2	5	1	2	1	3	0	6	1	5	1	1	1	3	4	1	1	2	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.882G>T	p.=	p.S294S	ENST00000324071	6/9	399	363	36	489	489	0	varscan-mutect	CYP2B6,synonymous_variant,p.=,ENST00000324071,NM_000767.4;CYP2B6,intron_variant,,ENST00000593831,;CYP2B6,downstream_gene_variant,,ENST00000598834,;CYP2B6,non_coding_transcript_exon_variant,,ENST00000597612,;CYP2B6,downstream_gene_variant,,ENST00000594187,;	T	ENST00000324071	Transcript	synonymous_variant	889/3054	882/1476	294/491	S	tcG/tcT		1		1	CYP2B6	HGNC	HGNC:2615	protein_coding	YES	CCDS12570.1	ENSP00000324648	P20813		UPI000012823F	NM_000767.4			6/9		Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF153,Superfamily_domains:SSF48264																	LOW	1	SNV	1			1										PASS		rs1239266674	.												T	2	4	81	41010053	41010053	G	T	1	0	0	0	0	0	0	0	1	3967	1074	38	1		1	CYP2B6	19	41010053	Silent	SNP	G	C3N-01489_TP	974603	41010053	17607563	641	27187											
CYP2S1	0	.	GRCh38	chr19	41198803	41198803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggctgccttcacagtccGgcaggtgcagcagcaccagg	7	7	13	14	1	1	0	1	0	0	0	2	0	2	0	3	4	4	5	3	4	0	2	rs778416663		C3N-01489_TP	C3N-01489_NB	G	G																c.749G>T	p.Arg250Leu	p.R250L	ENST00000310054	5/9	176	147	29	224	224	0	strelka-varscan-mutect	CYP2S1,missense_variant,p.Arg250Leu,ENST00000310054,NM_030622.7;CYP2S1,intron_variant,,ENST00000597754,;CYP2S1,intron_variant,,ENST00000600561,;CYP2S1,upstream_gene_variant,,ENST00000593890,;CYP2S1,intron_variant,,ENST00000593545,;CYP2S1,intron_variant,,ENST00000595590,;	T	ENST00000310054	Transcript	missense_variant	965/2782	749/1515	250/504	R/L	cGg/cTg	rs778416663,COSM1249593	1		1	CYP2S1	HGNC	HGNC:15654	protein_coding	YES	CCDS12573.1	ENSP00000308032	Q96SQ9		UPI00000467C9	NM_030622.7	deleterious(0.01)		5/9		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF23,Superfamily_domains:SSF48264											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs778416663	.												T	3	4	81	41198803	41198803	G	T	1	0	0	0	0	1	0	0	0	3977	1116	39	1		1	CYP2S1	19	41198803	Missense_Mutation	SNP	G	C3N-01489_TP	188750	41198803	17418813	642	27188											
AXL	0	.	GRCh38	chr19	41239235	41239235	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgggtctgtgtccaatctGacagtgtgtgtggcagccta	7	11	14	9	1	2	1	0	1	2	0	3	2	3	1	2	2	1	1	2	2	2	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1206G>T	p.=	p.L402L	ENST00000301178	9/20	89	82	7	140	140	0	strelka-varscan-mutect	AXL,synonymous_variant,p.=,ENST00000301178,NM_021913.4;AXL,synonymous_variant,p.=,ENST00000359092,NM_001699.5;AXL,synonymous_variant,p.=,ENST00000593513,NM_001278599.1;AXL,non_coding_transcript_exon_variant,,ENST00000599659,;	T	ENST00000301178	Transcript	synonymous_variant	1396/4737	1206/2685	402/894	L	ctG/ctT		1		1	AXL	HGNC	HGNC:905	protein_coding	YES	CCDS12575.1	ENSP00000301178	P30530		UPI000014319B	NM_021913.4			9/20		PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF323,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	41239235	41239235	G	T	1	0	0	0	0	0	0	0	1	1395	1277	45	2		2	AXL	19	41239235	Silent	SNP	G	C3N-01489_TP	40432	41239235	17378381	643	27189											
CEACAM7	0	.	GRCh38	chr19	41683919	41683919	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtggagagcagcagcCtgggactgaccaggaggctc	9	6	16	10	0	1	2	1	1	0	1	2	5	1	4	2	4	3	3	2	4	0	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.572G>T	p.Arg191Met	p.R191M	ENST00000006724	3/5	304	277	27	452	452	0	strelka-varscan-mutect	CEACAM7,missense_variant,p.Arg191Met,ENST00000006724,NM_006890.4,NM_001291485.1;CEACAM7,missense_variant,p.Arg191Met,ENST00000401731,;CEACAM7,intron_variant,,ENST00000602225,;CEACAM7,downstream_gene_variant,,ENST00000599715,;	A	ENST00000006724	Transcript	missense_variant	774/2489	572/798	191/265	R/M	aGg/aTg		1		-1	CEACAM7	HGNC	HGNC:1819	protein_coding	YES	CCDS12583.1	ENSP00000006724	Q14002		UPI0000DBDD9E	NM_006890.4,NM_001291485.1	deleterious(0)		3/5		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	41683919	41683919	C	A	1	0	0	0	0	1	0	0	0	2903	681	24	2		2	CEACAM7	19	41683919	Missense_Mutation	SNP	C	C3N-01489_TP	444684	41683919	16933697	644	27190											
ATP1A3	0	.	GRCh38	chr19	41975659	41975659	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgtgacgatggaggcaaAgttgtcgtccagcaggatca	10	8	13	10	2	1	1	1	1	0	0	3	4	2	3	2	3	1	3	2	3	1	1	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.2272T>A	p.Phe758Ile	p.F758I	ENST00000545399	16/23	289	255	34	382	382	0	strelka-varscan-mutect	ATP1A3,missense_variant,p.Phe758Ile,ENST00000545399,NM_001256214.1;ATP1A3,missense_variant,p.Phe745Ile,ENST00000302102,NM_152296.4;ATP1A3,missense_variant,p.Phe715Ile,ENST00000602133,;ATP1A3,missense_variant,p.Phe756Ile,ENST00000543770,NM_001256213.1;ATP1A3,missense_variant,p.Phe745Ile,ENST00000441343,;	T	ENST00000545399	Transcript	missense_variant	2456/3618	2272/3081	758/1026	F/I	Ttt/Att		1		-1	ATP1A3	HGNC	HGNC:801	protein_coding	YES	CCDS58664.1	ENSP00000444688	P13637		UPI0001914BDE	NM_001256214.1	deleterious(0)		16/23		Gene3D:1.20.1110.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF259,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01106,TIGRFAM_domain:TIGR01494																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	81	41975659	41975659	A	T	1	0	0	0	0	1	0	0	0	1282	72	3	4		4	ATP1A3	19	41975659	Missense_Mutation	SNP	A	C3N-01489_TP	291740	41975659	16641957	645	27191											
PSG3	0	.	GRCh38	chr19	42729863	42729863	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagggtcctgtttcatttctCgtgacactgggtagaatgag	8	14	12	7	1	2	3	1	2	1	1	4	3	3	3	1	2	0	2	1	2	3	4	rs764331640		C3N-01489_TP	C3N-01489_NB	C	C																c.903G>A	p.=	p.T301T	ENST00000327495	4/7	215	189	26	305	305	0	varscan-mutect	PSG3,synonymous_variant,p.=,ENST00000327495,NM_021016.3;PSG3,synonymous_variant,p.=,ENST00000595140,;PSG3,synonymous_variant,p.=,ENST00000614582,;PSG3,downstream_gene_variant,,ENST00000490592,;PSG3,3_prime_UTR_variant,,ENST00000594378,;PSG3,downstream_gene_variant,,ENST00000597009,;	T	ENST00000327495	Transcript	synonymous_variant	1088/1961	903/1287	301/428	T	acG/acA	rs764331640,COSM3534867	1		-1	PSG3	HGNC	HGNC:9520	protein_coding	YES	CCDS12611.1	ENSP00000332215	Q16557		UPI0000073DC1	NM_021016.3			4/7		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF669,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726											0,1						LOW	1	SNV	1		0,1	1										PASS		rs764331640	.												T	2	4	81	42729863	42729863	C	T	1	0	0	0	0	0	0	0	1	12807	871	31	1		1	PSG3	19	42729863	Silent	SNP	C	C3N-01489_TP	754204	42729863	15887753	646	27192											
PSG8	0	.	GRCh38	chr19	42755263	42755263	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgtagggcttgggcagcTtcgctgtgtggataacagag	8	11	16	6	1	0	2	0	1	0	1	1	3	0	3	0	3	2	5	0	3	2	4	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.713A>T	p.Lys238Met	p.K238M	ENST00000306511	4/5	86	76	10	159	159	0	varscan-mutect	PSG8,missense_variant,p.Lys238Met,ENST00000404209,NM_001130167.1;PSG8,missense_variant,p.Lys145Met,ENST00000401467,;PSG8,missense_variant,p.Lys116Met,ENST00000406636,NM_001130168.1;PSG8,missense_variant,p.Lys238Met,ENST00000306511,NM_182707.2;PSG8,non_coding_transcript_exon_variant,,ENST00000469260,;PSG8,intron_variant,,ENST00000600709,;PSG8,3_prime_UTR_variant,,ENST00000478387,;PSG8,non_coding_transcript_exon_variant,,ENST00000466163,;	A	ENST00000306511	Transcript	missense_variant	811/1441	713/1281	238/426	K/M	aAg/aTg		1		-1	PSG8	HGNC	HGNC:9525	protein_coding	YES	CCDS33037.1	ENSP00000305005	Q9UQ74		UPI0000071471	NM_182707.2	deleterious(0.03)		4/5		hmmpanther:PTHR10489																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	42755263	42755263	T	A	1	0	0	0	0	1	0	0	0	12812	1623	56	4		4	PSG8	19	42755263	Missense_Mutation	SNP	T	C3N-01489_TP	25400	42755263	15862353	647	27193											
TEX101	0	.	GRCh38	chr19	43418374	43418374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tactgctgccattgctgctgCcatcatttattcacttttcc	6	17	5	13	0	2	0	2	0	0	0	3	0	3	0	3	0	6	3	3	0	2	7			C3N-01489_TP	C3N-01489_NB	C	C																c.781C>A	p.Pro261Thr	p.P261T	ENST00000602198	8/8	101	90	11	162	162	0	strelka-varscan-mutect	TEX101,missense_variant,p.Pro261Thr,ENST00000602198,NM_031451.4;TEX101,missense_variant,p.Pro243Thr,ENST00000598265,NM_001130011.1;TEX101,non_coding_transcript_exon_variant,,ENST00000601707,;	A	ENST00000602198	Transcript	missense_variant	1223/1446	781/804	261/267	P/T	Cca/Aca	COSM3371347	1		1	TEX101	HGNC	HGNC:30722	protein_coding	YES	CCDS12619.1	ENSP00000472308	Q9BY14	A0A024R0T7	UPI000013CDD3	NM_031451.4	tolerated(0.59)		8/8		hmmpanther:PTHR16529,hmmpanther:PTHR16529:SF3,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	81	43418374	43418374	C	A	1	0	0	0	0	1	0	0	0	16194	739	26	2		2	TEX101	19	43418374	Missense_Mutation	SNP	C	C3N-01489_TP	663111	43418374	15199242	648	27194											
CEACAM20	0	.	GRCh38	chr19	44525207	44525207	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttggcattgagggtgagctgGgctgcagctggaggactcca	7	9	17	8	0	0	2	0	2	0	0	1	4	1	4	1	5	3	5	1	5	0	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.90C>G	p.=	p.A30A	ENST00000614924	2/12	95	87	8	143	143	0	strelka-mutect	CEACAM20,synonymous_variant,p.=,ENST00000621342,;CEACAM20,synonymous_variant,p.=,ENST00000617951,;CEACAM20,synonymous_variant,p.=,ENST00000614924,NM_001102597.2;CEACAM20,synonymous_variant,p.=,ENST00000611497,NM_001102600.2;CEACAM20,synonymous_variant,p.=,ENST00000614577,NM_001102599.2;CEACAM20,synonymous_variant,p.=,ENST00000620096,NM_001102598.2;	C	ENST00000614924	Transcript	synonymous_variant	106/1809	90/1791	30/596	A	gcC/gcG		1		-1	CEACAM20	HGNC	HGNC:24879	protein_coding	YES	CCDS74393.1	ENSP00000481937		A0A087WYM6	UPI0003EC04B5	NM_001102597.2			2/12		Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	81	44525207	44525207	G	C	1	0	0	0	0	0	0	0	1	2897	1219	43	4		4	CEACAM20	19	44525207	Silent	SNP	G	C3N-01489_TP	1106833	44525207	14092409	649	27195											
C5AR1	0	.	GRCh38	chr19	47320626	47320626	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgaagaagctggactcCctgtgtgtctcctttgccta	6	13	10	12	0	1	2	0	1	1	1	3	3	2	3	3	1	3	2	3	1	3	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.849C>T	p.=	p.S283S	ENST00000355085	2/2	117	101	16	191	191	0	strelka-varscan-mutect	C5AR1,synonymous_variant,p.=,ENST00000355085,NM_001736.3;C5AR1,downstream_gene_variant,,ENST00000594787,;	T	ENST00000355085	Transcript	synonymous_variant	871/2311	849/1053	283/350	S	tcC/tcT		1		1	C5AR1	HGNC	HGNC:1338	protein_coding	YES	CCDS33063.1	ENSP00000347197	P21730		UPI0000202756	NM_001736.3			2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24225:SF29,hmmpanther:PTHR24225,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	47320626	47320626	C	T	1	0	0	0	0	0	0	0	1	2092	610	22	3		3	C5AR1	19	47320626	Silent	SNP	C	C3N-01489_TP	2795419	47320626	11296990	650	27196											
PRR12	0	.	GRCh38	chr19	49596646	49596646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccgcccccacctcccacgGcccagtctacccagcccact	6	5	5	25	2	1	0	0	0	1	0	3	0	3	0	8	1	2	0	8	1	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2311G>T	p.Ala771Ser	p.A771S	ENST00000418929	4/14	112	96	16	154	154	0	strelka-varscan-mutect	PRR12,missense_variant,p.Ala771Ser,ENST00000418929,NM_020719.1;PRR12,intron_variant,,ENST00000615927,;	T	ENST00000418929	Transcript	missense_variant	2323/6955	2311/6111	771/2036	A/S	Gcc/Tcc		1		1	PRR12	HGNC	HGNC:29217	protein_coding	YES	CCDS46143.1	ENSP00000394510	Q9ULL5		UPI0001596889	NM_020719.1	tolerated(0.68)		4/14		hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	49596646	49596646	G	T	1	0	0	0	0	1	0	0	0	12719	1203	42	2		2	PRR12	19	49596646	Missense_Mutation	SNP	G	C3N-01489_TP	2276020	49596646	9020970	651	27197											
MYBPC2	0	.	GRCh38	chr19	50455619	50455619	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaggtggcatcgatgggtaCctggtggagtactgcctgga	7	9	17	8	1	0	0	0	0	0	0	1	3	0	2	2	6	3	4	2	6	2	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2313C>G	p.Tyr771Ter	p.Y771*	ENST00000357701	20/28	99	91	8	120	120	0	strelka-varscan-mutect	MYBPC2,stop_gained,p.Tyr771Ter,ENST00000357701,NM_004533.3;	G	ENST00000357701	Transcript	stop_gained	2364/3593	2313/3426	771/1141	Y/*	taC/taG		1		1	MYBPC2	HGNC	HGNC:7550	protein_coding	YES	CCDS46152.1	ENSP00000350332	Q14324	A0A140VJQ0	UPI000013C628	NM_004533.3			20/28		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	81	50455619	50455619	C	G	1	0	0	0	0	0	1	0	0	10012	518	18	4		4	MYBPC2	19	50455619	Nonsense_Mutation	SNP	C	C3N-01489_TP	858973	50455619	8161997	652	27198											
SHANK1	0	.	GRCh38	chr19	50716781	50716781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggccaggctaccaggtgCcccactgccctggccccggg	6	4	14	17	1	0	1	0	0	0	1	0	1	0	1	7	5	3	1	7	5	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.139G>T	p.Ala47Ser	p.A47S	ENST00000293441	1/23	71	54	17	81	81	0	strelka-varscan-mutect	SHANK1,missense_variant,p.Ala47Ser,ENST00000293441,NM_016148.2;SHANK1,missense_variant,p.Ala47Ser,ENST00000391814,;SHANK1,missense_variant,p.Ala47Ser,ENST00000359082,;SHANK1,upstream_gene_variant,,ENST00000483128,;	A	ENST00000293441	Transcript	missense_variant	158/6643	139/6486	47/2161	A/S	Gca/Tca		1		-1	SHANK1	HGNC	HGNC:15474	protein_coding	YES	CCDS12799.1	ENSP00000293441	Q9Y566		UPI000013E109	NM_016148.2	tolerated(0.07)		1/23																			MODERATE	1	SNV	1			1										PASS		rs1162796795	.												A	3	1	81	50716781	50716781	C	A	1	0	0	0	0	1	0	0	0	14523	739	26	2		2	SHANK1	19	50716781	Missense_Mutation	SNP	C	C3N-01489_TP	261162	50716781	7900835	653	27199											
CD33	0	.	GRCh38	chr19	51225352	51225352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagaactccccagttcatGgttactggttccgggaagga	11	9	11	10	1	1	1	1	0	0	1	3	3	3	3	3	4	2	3	3	4	4	3	rs150461675		C3N-01489_TP	C3N-01489_NB	G	G																c.172G>T	p.Gly58Cys	p.G58C	ENST00000262262	2/7	162	153	9	242	241	1	varscan-mutect	CD33,missense_variant,p.Gly58Cys,ENST00000262262,NM_001772.3;CD33,missense_variant,p.Gly58Cys,ENST00000391796,NM_001177608.1;CD33,intron_variant,,ENST00000436584,;CD33,intron_variant,,ENST00000421133,NM_001082618.1;CD33,non_coding_transcript_exon_variant,,ENST00000601785,;CD33,upstream_gene_variant,,ENST00000598473,;	T	ENST00000262262	Transcript	missense_variant	193/1444	172/1095	58/364	G/C	Ggt/Tgt	rs150461675	1		1	CD33	HGNC	HGNC:1659	protein_coding	YES	CCDS33084.1	ENSP00000262262	P20138	Q546G0	UPI000013D285	NM_001772.3	deleterious(0.04)		2/7		PROSITE_profiles:PS50835,hmmpanther:PTHR12035:SF52,hmmpanther:PTHR12035,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs150461675	.												T	3	4	81	51225352	51225352	G	T	1	0	0	0	0	1	0	0	0	2709	1348	47	2		2	CD33	19	51225352	Missense_Mutation	SNP	G	C3N-01489_TP	508571	51225352	7392264	654	27200											
ZNF649	0	.	GRCh38	chr19	51890764	51890764	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccaccttcactgaatcccCccgtttctcccttgagtgta	6	14	5	16	1	2	2	1	2	1	0	5	2	4	2	6	0	0	2	6	0	2	5	rs557320893		C3N-01489_TP	C3N-01489_NB	C	C																c.1372G>T	p.Gly458Trp	p.G458W	ENST00000354957	5/5	268	234	34	418	417	1	strelka-varscan-mutect	ZNF649,missense_variant,p.Gly458Trp,ENST00000354957,NM_023074.3;ZNF649,missense_variant,p.Gly430Trp,ENST00000600738,;ZNF577,upstream_gene_variant,,ENST00000301399,NM_032679.2;ZNF649-AS1,intron_variant,,ENST00000600329,;	A	ENST00000354957	Transcript	missense_variant	1657/3197	1372/1518	458/505	G/W	Ggg/Tgg	rs557320893	1		-1	ZNF649	HGNC	HGNC:25741	protein_coding	YES	CCDS12843.1	ENSP00000347043	Q9BS31		UPI000006D442	NM_023074.3	tolerated(0.18)		5/5																			MODERATE	1	SNV	1			1										PASS		rs557320893	.												A	3	1	81	51890764	51890764	C	A	1	0	0	0	0	1	0	0	0	18637	623	22	2		2	ZNF649	19	51890764	Missense_Mutation	SNP	C	C3N-01489_TP	665412	51890764	6726852	655	27201											
ZNF534	0	.	GRCh38	chr19	52438622	52438622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttacaaatgtaatgagtgtGgcaaggtctttattggcaat	12	14	10	5	0	1	1	0	1	1	0	1	1	1	1	0	3	1	3	0	3	6	5	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1201G>T	p.Gly401Cys	p.G401C	ENST00000332323	4/4	72	66	6	122	121	1	strelka-varscan-mutect	ZNF534,missense_variant,p.Gly401Cys,ENST00000332323,NM_001143939.1;ZNF534,missense_variant,p.Gly388Cys,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000617900,NM_001291368.1;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;	T	ENST00000332323	Transcript	missense_variant	1262/2086	1201/2025	401/674	G/C	Ggc/Tgc		1		1	ZNF534	HGNC	HGNC:26337	protein_coding	YES	CCDS46165.1	ENSP00000327538	Q76KX8		UPI0000351984	NM_001143939.1	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF187,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	52438622	52438622	G	T	1	0	0	0	0	1	0	0	0	18546	1348	47	2		2	ZNF534	19	52438622	Missense_Mutation	SNP	G	C3N-01489_TP	547858	52438622	6178994	656	27202											
ZNF808	0	.	GRCh38	chr19	52553106	52553106	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggtgtttatattttgtaGatatctcttccaaacacatg	11	18	6	6	0	1	1	0	0	1	1	3	1	2	1	1	1	1	2	1	1	5	9	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.191-1G>T		p.X64_splice	ENST00000359798		40	35	5	54	54	0	strelka-varscan-mutect	ZNF808,splice_acceptor_variant,,ENST00000359798,NM_001321424.1,NM_001039886.3;ZNF808,splice_acceptor_variant,,ENST00000465448,;ZNF808,splice_acceptor_variant,,ENST00000461321,;ZNF808,splice_acceptor_variant,,ENST00000461779,;ZNF808,splice_acceptor_variant,,ENST00000486474,;ZNF808,upstream_gene_variant,,ENST00000611267,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,splice_acceptor_variant,,ENST00000487863,;	T	ENST00000359798	Transcript	splice_acceptor_variant	-/3600	191/2712	64/903				1		1	ZNF808	HGNC	HGNC:33230	protein_coding	YES	CCDS46167.1	ENSP00000352846	Q8N4W9		UPI000041AA80	NM_001321424.1,NM_001039886.3				4/4																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	81	52553106	52553106	G	T	1	0	0	0	0	0	0	1	0	18758	956	33	2		2	ZNF808	19	52553106	Splice_Site	SNP	G	C3N-01489_TP	114484	52553106	6064510	657	27203											
ERVV-1	0	.	GRCh38	chr19	53014827	53014827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcgacagccacatcccccGgtgggcctgtacccctcctg	5	8	10	18	2	0	0	0	0	0	0	3	1	2	0	7	2	2	2	7	2	1	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.737G>T	p.Arg246Leu	p.R246L	ENST00000602168	1/1	209	192	17	324	324	0	varscan-mutect	ERVV-1,missense_variant,p.Arg246Leu,ENST00000602168,NM_152473.2;CTD-2620I22.3,downstream_gene_variant,,ENST00000596769,;ZNF702P,intron_variant,,ENST00000600425,;ZNF702P,intron_variant,,ENST00000594516,;	T	ENST00000602168	Transcript	missense_variant	907/2202	737/1434	246/477	R/L	cGg/cTg		1		1	ERVV-1	HGNC	HGNC:26501	protein_coding	YES	CCDS59419.1	ENSP00000473153	B6SEH8	M9QQA5	UPI00018258B8	NM_152473.2	deleterious(0.02)		1/1		hmmpanther:PTHR10424:SF8,hmmpanther:PTHR10424																	MODERATE		SNV				1										PASS		rs903188416	.												T	3	4	81	53014827	53014827	G	T	1	0	0	0	0	1	0	0	0	5106	1116	39	1		1	ERVV-1	19	53014827	Missense_Mutation	SNP	G	C3N-01489_TP	461721	53014827	5602789	658	27204											
ZNF415	0	.	GRCh38	chr19	53109465	53109465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacagatgaaatcagtccCatatttattagaaacatggg	17	10	8	6	0	1	4	1	1	0	3	2	4	2	4	1	1	2	0	1	1	6	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.580G>T	p.Gly194Trp	p.G194W	ENST00000500065	4/4	136	119	17	241	241	0	strelka-varscan-mutect	ZNF415,missense_variant,p.Gly194Trp,ENST00000500065,NM_001136038.2;ZNF415,missense_variant,p.Gly194Trp,ENST00000421033,NM_001164309.1;ZNF415,missense_variant,p.Gly194Trp,ENST00000243643,NM_018355.3;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF415,5_prime_UTR_variant,,ENST00000601493,;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,downstream_gene_variant,,ENST00000601110,;ZNF415,downstream_gene_variant,,ENST00000595813,;ZNF415,downstream_gene_variant,,ENST00000601215,;ZNF415,downstream_gene_variant,,ENST00000595174,;ZNF415,downstream_gene_variant,,ENST00000595359,;ZNF415,downstream_gene_variant,,ENST00000602024,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;	A	ENST00000500065	Transcript	missense_variant	914/2496	580/1668	194/555	G/W	Ggg/Tgg		1		-1	ZNF415	HGNC	HGNC:20636	protein_coding	YES	CCDS54313.1	ENSP00000439435	Q09FC8		UPI0000E04BC1	NM_001136038.2	deleterious(0.01)		4/4		hmmpanther:PTHR24377:SF145,hmmpanther:PTHR24377																	MODERATE	1	SNV	4			1										PASS		.	.												A	3	1	81	53109465	53109465	C	A	1	0	0	0	0	1	0	0	0	18464	594	21	2		2	ZNF415	19	53109465	Missense_Mutation	SNP	C	C3N-01489_TP	94638	53109465	5508151	659	27205											
ZNF677	0	.	GRCh38	chr19	53238146	53238146	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccagctgtgcctgtaagCttaatccaattttattttca	10	15	6	10	0	1	0	1	0	0	0	2	0	2	0	3	0	4	3	3	0	4	6	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.581G>T	p.Ser194Ile	p.S194I	ENST00000598513	5/5	106	92	14	163	163	0	strelka-varscan-mutect	ZNF677,missense_variant,p.Ser194Ile,ENST00000598513,NM_001317998.1,NM_182609.2;ZNF677,missense_variant,p.Ser194Ile,ENST00000333952,;ZNF677,downstream_gene_variant,,ENST00000594681,;ZNF677,downstream_gene_variant,,ENST00000599012,;ZNF677,downstream_gene_variant,,ENST00000598806,;ZNF677,downstream_gene_variant,,ENST00000594517,;CTD-2245F17.6,upstream_gene_variant,,ENST00000596041,;ZNF677,downstream_gene_variant,,ENST00000599328,;ZNF677,downstream_gene_variant,,ENST00000593539,;	A	ENST00000598513	Transcript	missense_variant	732/3497	581/1755	194/584	S/I	aGc/aTc		1		-1	ZNF677	HGNC	HGNC:28730	protein_coding	YES	CCDS12861.1	ENSP00000469391	Q86XU0		UPI000017DF85	NM_001317998.1,NM_182609.2	deleterious(0)		5/5		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF38																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	53238146	53238146	C	A	1	0	0	0	0	1	0	0	0	18657	797	28	2		2	ZNF677	19	53238146	Missense_Mutation	SNP	C	C3N-01489_TP	128681	53238146	5379470	660	27206											
MYADM	0	.	GRCh38	chr19	53874047	53874047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggctatatggccaccgtacCcgggctgctgaaggtgctgg	6	9	15	11	2	0	1	0	1	0	0	0	1	0	1	3	5	3	5	3	5	4	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.518C>A	p.Pro173His	p.P173H	ENST00000391769	3/3	246	214	32	381	381	0	strelka-varscan-mutect	MYADM,missense_variant,p.Pro173His,ENST00000391769,NM_001290193.1,NM_001290190.1,NM_001020821.2,NM_001290189.1,NM_001020818.2;MYADM,missense_variant,p.Pro173His,ENST00000391771,NM_001020819.2;MYADM,missense_variant,p.Pro173His,ENST00000391770,NM_001290194.1,NM_001290192.1,NM_138373.4,NM_001290191.1;MYADM,missense_variant,p.Pro173His,ENST00000336967,NM_001020820.2,NM_001290188.1;MYADM,missense_variant,p.Pro173His,ENST00000391768,;MYADM,missense_variant,p.Pro173His,ENST00000421337,;MYADM,missense_variant,p.Pro173His,ENST00000439000,;MYADM,missense_variant,p.Pro173His,ENST00000448420,;MYADM,downstream_gene_variant,,ENST00000414489,;AC008753.6,upstream_gene_variant,,ENST00000455835,;AC008440.5,downstream_gene_variant,,ENST00000413496,;	A	ENST00000391769	Transcript	missense_variant	798/3186	518/969	173/322	P/H	cCc/cAc		1		1	MYADM	HGNC	HGNC:7544	protein_coding	YES	CCDS12866.1	ENSP00000375649	Q96S97	A0A024R4N0	UPI0000001BEF	NM_001290193.1,NM_001290190.1,NM_001020821.2,NM_001290189.1,NM_001020818.2	tolerated(0.08)		3/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS51225,hmmpanther:PTHR17068,hmmpanther:PTHR17068:SF3,Pfam_domain:PF01284																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	53874047	53874047	C	A	1	0	0	0	0	1	0	0	0	10005	623	22	2		2	MYADM	19	53874047	Missense_Mutation	SNP	C	C3N-01489_TP	635901	53874047	4743569	661	27207											
CACNG6	0	.	GRCh38	chr19	53993193	53993193	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggacacctgcggccccGcggagctgcccggaggtgag	7	3	17	14	4	0	1	0	1	0	0	0	4	0	4	4	5	3	1	4	5	0	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.316G>C	p.Ala106Pro	p.A106P	ENST00000252729	1/4	185	157	28	208	208	0	strelka-varscan-mutect	CACNG6,missense_variant,p.Ala106Pro,ENST00000252729,NM_145814.1;CACNG6,missense_variant,p.Ala106Pro,ENST00000352529,NM_031897.2;CACNG6,missense_variant,p.Ala106Pro,ENST00000346968,NM_145815.1;CACNG8,downstream_gene_variant,,ENST00000270458,NM_031895.5;	C	ENST00000252729	Transcript	missense_variant	906/1853	316/783	106/260	A/P	Gcg/Ccg		1		1	CACNG6	HGNC	HGNC:13625	protein_coding	YES	CCDS12870.1	ENSP00000252729	Q9BXT2		UPI0000001276	NM_145814.1	deleterious(0.02)		1/4		Pfam_domain:PF13903,Prints_domain:PR01794,hmmpanther:PTHR15025,hmmpanther:PTHR15025:SF6																	MODERATE	1	SNV	1			1										PASS		rs1235805731	.												C	3	2	81	53993193	53993193	G	C	1	0	0	0	0	1	0	0	0	2249	1087	38	4		4	CACNG6	19	53993193	Missense_Mutation	SNP	G	C3N-01489_TP	119146	53993193	4624423	662	27208											
MBOAT7	0	.	GRCh38	chr19	54188326	54188326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcccacagcggctgctcCccatctcttcagcccaggac	7	6	9	19	1	2	0	1	0	1	0	4	1	3	1	4	3	3	2	4	3	0	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.97G>A	p.Gly33Arg	p.G33R	ENST00000245615	3/8	132	120	12	172	172	0	strelka-varscan-mutect	MBOAT7,missense_variant,p.Gly33Arg,ENST00000245615,NM_024298.4;MBOAT7,missense_variant,p.Gly2Glu,ENST00000431666,NM_001146083.2;MBOAT7,missense_variant,p.Gly2Glu,ENST00000338624,NM_001146056.2;MBOAT7,missense_variant,p.Gly33Arg,ENST00000391754,NM_001146082.2;MBOAT7,missense_variant,p.Gly33Arg,ENST00000414665,;MBOAT7,missense_variant,p.Gly33Arg,ENST00000453320,;TSEN34,upstream_gene_variant,,ENST00000302937,NM_024075.4;TSEN34,upstream_gene_variant,,ENST00000429671,NM_001282333.1;MBOAT7,upstream_gene_variant,,ENST00000495279,;TSEN34,upstream_gene_variant,,ENST00000396383,NM_001282332.1;TSEN34,upstream_gene_variant,,ENST00000396388,NM_001077446.3;TSEN34,upstream_gene_variant,,ENST00000455798,;TSEN34,upstream_gene_variant,,ENST00000456872,;MBOAT7,upstream_gene_variant,,ENST00000449249,;MBOAT7,non_coding_transcript_exon_variant,,ENST00000474910,;MBOAT7,non_coding_transcript_exon_variant,,ENST00000495968,;MBOAT7,missense_variant,p.Gly33Arg,ENST00000437868,;MBOAT7,non_coding_transcript_exon_variant,,ENST00000491216,;MBOAT7,non_coding_transcript_exon_variant,,ENST00000464098,;TSEN34,upstream_gene_variant,,ENST00000496583,;	T	ENST00000245615	Transcript	missense_variant	578/2529	97/1419	33/472	G/R	Gga/Aga		1		-1	MBOAT7	HGNC	HGNC:15505	protein_coding	YES	CCDS12883.1	ENSP00000245615	Q96N66		UPI000013CBAC	NM_024298.4	tolerated(0.05)		3/8		hmmpanther:PTHR13906:SF16,hmmpanther:PTHR13906																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	54188326	54188326	C	T	1	0	0	0	0	1	0	0	0	9291	632	22	3		3	MBOAT7	19	54188326	Missense_Mutation	SNP	C	C3N-01489_TP	195133	54188326	4429290	663	27209											
LILRB2	0	.	GRCh38	chr19	54274713	54274713	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagggtggcgtagatgctGggctcagctggaggttccct	5	9	17	10	1	1	1	1	0	0	1	2	2	2	2	2	5	2	5	2	5	1	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1767C>A	p.=	p.P589P	ENST00000391749	14/14	264	229	35	372	372	0	strelka-varscan-mutect	LILRB2,synonymous_variant,p.=,ENST00000391748,NM_001278403.2;LILRB2,synonymous_variant,p.=,ENST00000434421,NM_001278404.2;LILRB2,synonymous_variant,p.=,ENST00000314446,NM_001080978.3;LILRB2,synonymous_variant,p.=,ENST00000391749,NM_005874.4;LILRB2,3_prime_UTR_variant,,ENST00000391746,NM_001278405.2;LILRB2,3_prime_UTR_variant,,ENST00000455108,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;	T	ENST00000391749	Transcript	synonymous_variant	2039/2286	1767/1797	589/598	P	ccC/ccA		1		-1	LILRB2	HGNC	HGNC:6606	protein_coding	YES	CCDS12886.1	ENSP00000375629	Q8N423		UPI00034F23A2	NM_005874.4			14/14		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF117																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	54274713	54274713	G	T	1	0	0	0	0	0	0	0	1	8699	1335	47	2		2	LILRB2	19	54274713	Silent	SNP	G	C3N-01489_TP	86387	54274713	4342903	664	27210											
LILRA2	0	.	GRCh38	chr19	54575460	54575460	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccctgggccctgtgagccCctcccacgggggccagtaca	6	5	12	18	1	0	1	0	1	0	0	1	1	1	1	6	3	2	1	6	3	1	1	rs560494676		C3N-01489_TP	C3N-01489_NB	C	C																c.860C>A	p.Pro287His	p.P287H	ENST00000251377	6/9	238	210	28	383	383	0	strelka-varscan-mutect	LILRA2,missense_variant,p.Pro287His,ENST00000251376,NM_006866.3;LILRA2,missense_variant,p.Pro287His,ENST00000251377,;LILRA2,missense_variant,p.Pro287His,ENST00000391738,NM_001130917.2;LILRA2,missense_variant,p.Pro287His,ENST00000439534,;LILRA2,missense_variant,p.Pro275His,ENST00000391737,NM_001290270.1;LILRA1,intron_variant,,ENST00000618665,;LILRA2,intron_variant,,ENST00000629481,;LILRA2,upstream_gene_variant,,ENST00000472992,;LILRA2,downstream_gene_variant,,ENST00000495786,;	A	ENST00000251377	Transcript	missense_variant	993/1799	860/1452	287/483	P/H	cCc/cAc	rs560494676,COSM4187744,COSM4187745,COSM5690440,COSM5690441	1		1	LILRA2	HGNC	HGNC:6603	protein_coding	YES	CCDS46179.1	ENSP00000251377	Q8N149		UPI00034F238E		tolerated(0.5)		6/9		PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF117,Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726											0,1,1,1,1						MODERATE	1	SNV	5		0,1,1,1,1	1										PASS		rs560494676	.												A	3	1	81	54575460	54575460	C	A	1	0	0	0	0	1	0	0	0	8694	623	22	2		2	LILRA2	19	54575460	Missense_Mutation	SNP	C	C3N-01489_TP	300747	54575460	4042156	665	27211											
KIR3DL2	0	.	GRCh38	chr19	54853878	54853878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagagaggggatctctgagGacccctcacgcctcgttgga	9	7	13	12	2	2	2	1	1	1	1	4	6	2	5	3	4	0	1	3	4	0	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.487G>T	p.Asp163Tyr	p.D163Y	ENST00000326321	4/9	582	512	70	866	866	0	strelka-varscan-mutect	KIR3DL2,missense_variant,p.Asp163Tyr,ENST00000326321,NM_006737.3;KIR3DL2,missense_variant,p.Asp163Tyr,ENST00000270442,NM_001242867.1;KIR3DL1,intron_variant,,ENST00000402254,;	T	ENST00000326321	Transcript	missense_variant	520/1877	487/1368	163/455	D/Y	Gac/Tac		1		1	KIR3DL2	HGNC	HGNC:6339	protein_coding	YES	CCDS12906.1	ENSP00000325525	P43630	A0A0U1WNF3	UPI000012DB25	NM_006737.3	tolerated(0.09)		4/9		Gene3D:2.60.40.10,Pfam_domain:PF00047,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF121,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	54853878	54853878	G	T	1	0	0	0	0	1	0	0	0	8185	1174	41	2		2	KIR3DL2	19	54853878	Missense_Mutation	SNP	G	C3N-01489_TP	278418	54853878	3763738	666	27212											
FCAR	0	.	GRCh38	chr19	54889796	54889796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcagatgtggctgaacCgagctggagccaacagatgt	10	7	14	10	2	0	3	0	1	0	2	1	5	0	4	2	3	4	3	2	3	2	0	rs61735070		C3N-01489_TP	C3N-01489_NB	C	C																c.797C>A	p.Pro266Gln	p.P266Q	ENST00000355524	5/5	253	224	29	286	285	1	strelka-varscan-mutect	FCAR,missense_variant,p.Pro266Gln,ENST00000355524,NM_002000.3;FCAR,missense_variant,p.Pro244Gln,ENST00000391725,NM_133269.3;FCAR,missense_variant,p.Pro254Gln,ENST00000359272,NM_133272.3;FCAR,missense_variant,p.Pro232Gln,ENST00000391724,NM_133278.3;FCAR,missense_variant,p.Pro158Gln,ENST00000391726,NM_133273.3;FCAR,missense_variant,p.Pro170Gln,ENST00000345937,NM_133271.3;FCAR,missense_variant,p.Pro157Gln,ENST00000353758,NM_133277.3;FCAR,3_prime_UTR_variant,,ENST00000391723,NM_133274.3;FCAR,downstream_gene_variant,,ENST00000469767,;CTB-61M7.2,upstream_gene_variant,,ENST00000594721,;FCAR,non_coding_transcript_exon_variant,,ENST00000482092,;FCAR,non_coding_transcript_exon_variant,,ENST00000471750,;FCAR,non_coding_transcript_exon_variant,,ENST00000472634,;FCAR,downstream_gene_variant,,ENST00000488066,;	A	ENST00000355524	Transcript	missense_variant	807/1483	797/864	266/287	P/Q	cCg/cAg	rs61735070	1		1	FCAR	HGNC	HGNC:3608	protein_coding	YES	CCDS12907.1	ENSP00000347714	P24071		UPI000011B429	NM_002000.3	tolerated(0.68)		5/5		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF4																	MODERATE	1	SNV	1			1										PASS		rs61735070	.												A	3	1	81	54889796	54889796	C	A	1	0	0	0	0	1	0	0	0	5636	652	23	1		1	FCAR	19	54889796	Missense_Mutation	SNP	C	C3N-01489_TP	35918	54889796	3727820	667	27213											
NLRP7	0	.	GRCh38	chr19	54940383	54940383	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagtgacgtcgtcatggaAattgtcaatgtctccttgcc	9	12	10	10	2	3	2	2	1	1	1	5	3	3	3	2	1	1	0	2	1	2	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.436T>C	p.Phe146Leu	p.F146L	ENST00000588756	6/13	348	312	36	567	566	1	strelka-varscan-mutect	NLRP7,missense_variant,p.Phe146Leu,ENST00000588756,;NLRP7,missense_variant,p.Phe146Leu,ENST00000328092,NM_139176.3;NLRP7,missense_variant,p.Phe146Leu,ENST00000592784,NM_001127255.1;NLRP7,missense_variant,p.Phe146Leu,ENST00000340844,NM_206828.3;NLRP7,missense_variant,p.Phe146Leu,ENST00000590030,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,missense_variant,p.Phe146Leu,ENST00000586379,;	G	ENST00000588756	Transcript	missense_variant	923/3826	436/3114	146/1037	F/L	Ttc/Ctc		1		-1	NLRP7	HGNC	HGNC:22947	protein_coding	YES	CCDS46183.1	ENSP00000467123	Q8WX94		UPI000174C6C4		tolerated(0.41)		6/13		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	81	54940383	54940383	A	G	1	0	0	0	0	1	0	0	0	10520	14	1	5		5	NLRP7	19	54940383	Missense_Mutation	SNP	A	C3N-01489_TP	50587	54940383	3677233	668	27214											
PTPRH	0	.	GRCh38	chr19	55197344	55197344	+	Frame_Shift_Del	DEL	G	G	-																															actgagagtgggggtctccaGgggccttccaccacagcatg																										C3N-01489_TP	C3N-01489_NB	G	G																c.1763delC	p.Pro588LeufsTer65	p.P588Lfs*65	ENST00000376350	9/20	156	137	19	249	248	1	sindel-varindel-pindel	PTPRH,frameshift_variant,p.Pro588LeufsTer65,ENST00000376350,NM_002842.4;PTPRH,frameshift_variant,p.Pro410LeufsTer65,ENST00000263434,NM_001161440.2;PTPRH,non_coding_transcript_exon_variant,,ENST00000588559,;	-	ENST00000376350	Transcript	frameshift_variant	1786/3877	1763/3348	588/1115	P/X	cCt/ct	COSM714656	1		-1	PTPRH	HGNC	HGNC:9672	protein_coding	YES	CCDS33110.1	ENSP00000365528	Q9HD43		UPI000052D443	NM_002842.4			9/20		PROSITE_profiles:PS50853,hmmpanther:PTHR19134:SF297,hmmpanther:PTHR19134,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	81	55197344	55197344	G	-	1	0	1	0	1	0	0	0	0	12957	1000	35	0		0	PTPRH	19	55197344	Frame_Shift_Del	DEL	G	C3N-01489_TP	256961	55197344	3420272	669	27215											
BRSK1	0	.	GRCh38	chr19	55306390	55306390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagggtccagagccctccCcgcgacgggacggcagcgga	7	3	16	15	5	0	2	0	1	0	1	2	5	2	4	4	4	2	1	4	4	0	0			C3N-01489_TP	C3N-01489_NB	C	C																c.2029C>A	p.Pro677Thr	p.P677T	ENST00000309383	17/19	388	351	37	438	438	0	strelka-varscan-mutect	BRSK1,missense_variant,p.Pro677Thr,ENST00000309383,NM_032430.1;BRSK1,missense_variant,p.Pro693Thr,ENST00000590333,;BRSK1,missense_variant,p.Pro372Thr,ENST00000326848,;BRSK1,downstream_gene_variant,,ENST00000585418,;BRSK1,downstream_gene_variant,,ENST00000591774,;BRSK1,downstream_gene_variant,,ENST00000588584,;BRSK1,downstream_gene_variant,,ENST00000586626,;	A	ENST00000309383	Transcript	missense_variant	2306/3079	2029/2337	677/778	P/T	Ccg/Acg	COSM5527426	1		1	BRSK1	HGNC	HGNC:18994	protein_coding	YES	CCDS12921.1	ENSP00000310649	Q8TDC3		UPI0000070495	NM_032430.1	tolerated(0.57)		17/19		Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	81	55306390	55306390	C	A	1	0	0	0	0	1	0	0	0	1697	623	22	2		2	BRSK1	19	55306390	Missense_Mutation	SNP	C	C3N-01489_TP	109046	55306390	3311226	670	27216											
TMEM150B	0	.	GRCh38	chr19	55316851	55316851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggcccaatccaggcagccCcgggctggggcagcctcttc	5	5	15	16	1	1	0	0	0	1	0	3	0	2	0	5	6	2	3	5	6	1	1	rs772056212		C3N-01489_TP	C3N-01489_NB	C	C																c.440G>T	p.Gly147Val	p.G147V	ENST00000326652	7/8	76	69	7	141	141	0	strelka-varscan-mutect	TMEM150B,missense_variant,p.Gly147Val,ENST00000326652,NM_001085488.2,NM_001282011.1;TMEM150B,missense_variant,p.Gly102Val,ENST00000585918,;BRSK1,downstream_gene_variant,,ENST00000309383,NM_032430.1;BRSK1,downstream_gene_variant,,ENST00000590333,;BRSK1,downstream_gene_variant,,ENST00000326848,;TMEM150B,downstream_gene_variant,,ENST00000591570,;CTD-2105E13.14,upstream_gene_variant,,ENST00000596786,;TMEM150B,3_prime_UTR_variant,,ENST00000586609,;TMEM150B,3_prime_UTR_variant,,ENST00000592603,;TMEM150B,3_prime_UTR_variant,,ENST00000592731,;TMEM150B,downstream_gene_variant,,ENST00000592891,;	A	ENST00000326652	Transcript	missense_variant	623/943	440/702	147/233	G/V	gGg/gTg	rs772056212	1		-1	TMEM150B	HGNC	HGNC:34415	protein_coding	YES	CCDS42629.1	ENSP00000320757	A6NC51		UPI00001AF4D4	NM_001085488.2,NM_001282011.1	deleterious(0)		7/8		Pfam_domain:PF10277,hmmpanther:PTHR21324,hmmpanther:PTHR21324:SF3																	MODERATE	1	SNV	1			1										PASS		rs772056212	.												A	3	1	81	55316851	55316851	C	A	1	0	0	0	0	1	0	0	0	16510	623	22	2		2	TMEM150B	19	55316851	Missense_Mutation	SNP	C	C3N-01489_TP	10461	55316851	3300765	671	27217											
RFPL4A	0	.	GRCh38	chr19	55761921	55761921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcctcaattcactccagaagGagcccgatggggaaggttta	11	8	12	10	1	2	1	2	0	0	1	3	4	3	3	3	4	1	1	3	4	4	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.121G>C	p.Glu41Gln	p.E41Q	ENST00000434937	2/3	103	87	16	180	180	0	varscan-mutect	RFPL4A,missense_variant,p.Glu41Gln,ENST00000434937,NM_001145014.1;	C	ENST00000434937	Transcript	missense_variant	292/1035	121/864	41/287	E/Q	Gag/Cag		1		1	RFPL4A	HGNC	HGNC:16449	protein_coding	YES	CCDS46201.1	ENSP00000392936	A6NLU0		UPI0000D6181F	NM_001145014.1	deleterious(0.02)		2/3		PROSITE_profiles:PS50089,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF228,Gene3D:3.30.40.10,Pfam_domain:PF15227,Superfamily_domains:SSF57850																	MODERATE	1	SNV	5			1										PASS		rs1344878786	.												C	3	2	81	55761921	55761921	G	C	1	0	0	0	0	1	0	0	0	13428	1175	41	4		4	RFPL4A	19	55761921	Missense_Mutation	SNP	G	C3N-01489_TP	445070	55761921	2855695	672	27218											
NLRP4	0	.	GRCh38	chr19	55852353	55852353	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgaaggtcatgagggaGagaacaggtgagggagtctg	12	7	18	4	0	2	4	1	3	1	1	2	7	2	6	0	4	2	1	0	4	2	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.273G>T	p.Glu91Asp	p.E91D	ENST00000301295	2/10	157	137	20	250	250	0	strelka-varscan-mutect	NLRP4,missense_variant,p.Glu91Asp,ENST00000301295,NM_134444.4;NLRP4,missense_variant,p.Glu91Asp,ENST00000587464,;	T	ENST00000301295	Transcript	missense_variant	695/3670	273/2985	91/994	E/D	gaG/gaT		1		1	NLRP4	HGNC	HGNC:22943	protein_coding	YES	CCDS12936.1	ENSP00000301295	Q96MN2		UPI000013E6FD	NM_134444.4	deleterious(0.01)		2/10		PROSITE_profiles:PS50824,hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Gene3D:1.10.533.10,Superfamily_domains:SSF47986																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	55852353	55852353	G	T	1	0	0	0	0	1	0	0	0	10517	933	33	2		2	NLRP4	19	55852353	Missense_Mutation	SNP	G	C3N-01489_TP	90432	55852353	2765263	673	27219											
NLRP8	0	.	GRCh38	chr19	55970686	55970686	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acctgtctgtggcccagctgGagaggctgtcgtaagtctcc	6	10	13	12	1	2	1	0	0	2	1	4	2	2	1	3	3	1	3	3	3	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2524G>C	p.Glu842Gln	p.E842Q	ENST00000291971	6/10	88	79	9	144	144	0	strelka-mutect	NLRP8,missense_variant,p.Glu842Gln,ENST00000291971,NM_176811.2;NLRP8,missense_variant,p.Glu842Gln,ENST00000590542,;	C	ENST00000291971	Transcript	missense_variant	2595/3934	2524/3147	842/1048	E/Q	Gag/Cag		1		1	NLRP8	HGNC	HGNC:22940	protein_coding	YES	CCDS12937.1	ENSP00000291971	Q86W28		UPI00001BB3C9	NM_176811.2	tolerated(0.13)		6/10		hmmpanther:PTHR24106:SF54,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	2			1										PASS		rs1417446557	.												C	3	2	81	55970686	55970686	G	C	1	0	0	0	0	1	0	0	0	10521	1175	41	4		4	NLRP8	19	55970686	Missense_Mutation	SNP	G	C3N-01489_TP	118333	55970686	2646930	674	27220											
AURKC	0	.	GRCh38	chr19	57232586	57232586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactatttccatgatgcacGccgggtgtacctgattctgg	8	13	10	10	2	1	2	0	2	1	0	2	2	2	2	3	2	3	2	3	2	3	5	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.341G>T	p.Arg114Leu	p.R114L	ENST00000302804	4/7	479	422	57	696	695	1	strelka-varscan-mutect	AURKC,missense_variant,p.Arg80Leu,ENST00000448930,;AURKC,missense_variant,p.Arg114Leu,ENST00000302804,NM_001015878.1;AURKC,missense_variant,p.Arg80Leu,ENST00000598785,NM_003160.2;AURKC,missense_variant,p.Arg95Leu,ENST00000415300,NM_001015879.1;AURKC,missense_variant,p.Arg111Leu,ENST00000599062,;AURKC,upstream_gene_variant,,ENST00000594599,;AURKC,missense_variant,p.Arg80Leu,ENST00000596375,;AURKC,3_prime_UTR_variant,,ENST00000601799,;	T	ENST00000302804	Transcript	missense_variant	527/1247	341/930	114/309	R/L	cGc/cTc		1		1	AURKC	HGNC	HGNC:11391	protein_coding	YES	CCDS33128.1	ENSP00000302898	Q9UQB9		UPI000013610A	NM_001015878.1	deleterious(0.02)		4/7		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000654,PROSITE_profiles:PS50011,hmmpanther:PTHR24350,hmmpanther:PTHR24350:SF3,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs1051922045	.												T	3	4	81	57232586	57232586	G	T	1	0	0	0	0	1	0	0	0	1380	1087	38	1		1	AURKC	19	57232586	Missense_Mutation	SNP	G	C3N-01489_TP	1261900	57232586	1385030	675	27221											
ZSCAN4	0	.	GRCh38	chr19	57676533	57676533	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgatgacagcataaatccaCctgccttagtgagtacaggg	12	9	10	10	0	0	3	0	3	0	0	1	3	1	3	3	1	3	2	3	1	4	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.388C>A	p.Pro130Thr	p.P130T	ENST00000318203	3/5	52	45	7	82	82	0	strelka-varscan-mutect	ZSCAN4,missense_variant,p.Pro130Thr,ENST00000318203,NM_152677.2;ZSCAN4,missense_variant,p.Pro130Thr,ENST00000612521,;	A	ENST00000318203	Transcript	missense_variant	1085/2246	388/1302	130/433	P/T	Cct/Act		1		1	ZSCAN4	HGNC	HGNC:23709	protein_coding	YES	CCDS12958.1	ENSP00000321963	Q8NAM6		UPI000006E923	NM_152677.2	deleterious(0)		3/5		hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF45,SMART_domains:SM00431																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	81	57676533	57676533	C	A	1	0	0	0	0	1	0	0	0	18836	507	18	2		2	ZSCAN4	19	57676533	Missense_Mutation	SNP	C	C3N-01489_TP	443947	57676533	941083	676	27222											
ZNF274	0	.	GRCh38	chr19	58206803	58206803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgaggttgttgaggtcCtcacactgaaccaggaggtg	10	10	13	8	0	1	3	1	3	0	0	2	4	2	4	2	4	1	2	2	4	1	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.340C>T	p.Leu114Phe	p.L114F	ENST00000610905	5/8	209	179	30	328	327	1	strelka-mutect	ZNF274,missense_variant,p.Leu82Phe,ENST00000345813,NM_016325.3;ZNF274,missense_variant,p.Leu114Phe,ENST00000610905,;ZNF274,missense_variant,p.Leu9Phe,ENST00000424679,NM_016324.3;ZNF274,missense_variant,p.Leu114Phe,ENST00000617501,NM_133502.2;ZNF274,missense_variant,p.Leu72Phe,ENST00000326804,NM_001278734.1;ZNF274,missense_variant,p.Leu9Phe,ENST00000594839,;ZNF274,downstream_gene_variant,,ENST00000601995,;ZNF274,non_coding_transcript_exon_variant,,ENST00000621145,;ZNF274,non_coding_transcript_exon_variant,,ENST00000619307,;ZNF274,non_coding_transcript_exon_variant,,ENST00000615675,;ZNF274,upstream_gene_variant,,ENST00000595146,;	T	ENST00000610905	Transcript	missense_variant	528/2559	340/1962	114/653	L/F	Ctc/Ttc		1		1	ZNF274	HGNC	HGNC:13068	protein_coding	YES	CCDS74473.1	ENSP00000478533	Q96GC6		UPI0000161F3D		deleterious(0)		5/8																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	58206803	58206803	C	T	1	0	0	0	0	1	0	0	0	18385	681	24	3		3	ZNF274	19	58206803	Missense_Mutation	SNP	C	C3N-01489_TP	530270	58206803	410813	677	27223											
SIRPA	0	.	GRCh38	chr20	1924806	1924806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacatctatattgtggtggGtgtggtgtgcaccttgctgg	6	14	15	6	0	1	0	0	0	1	0	1	1	1	0	1	4	3	2	1	4	3	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1130G>T	p.Gly377Val	p.G377V	ENST00000400068	6/9	270	243	27	391	391	0	strelka-varscan-mutect	SIRPA,missense_variant,p.Gly377Val,ENST00000622179,;SIRPA,missense_variant,p.Gly377Val,ENST00000400068,NM_001040022.1;SIRPA,missense_variant,p.Gly377Val,ENST00000358771,NM_001040023.1;SIRPA,missense_variant,p.Gly377Val,ENST00000356025,NM_080792.2;	T	ENST00000400068	Transcript	missense_variant	1490/4201	1130/1515	377/504	G/V	gGt/gTt		1		1	SIRPA	HGNC	HGNC:9662	protein_coding	YES	CCDS13022.1	ENSP00000382941	P78324		UPI0000073ADE	NM_001040022.1	deleterious(0.01)		6/9		Gene3D:2.60.40.10,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF12,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	1924806	1924806	G	T	1	0	0	0	0	1	0	0	0	14595	1261	44	2		2	SIRPA	20	1924806	Missense_Mutation	SNP	G	C3N-01489_TP		1924806	62519361	678	27224											
SIRPA	0	.	GRCh38	chr20	1937554	1937554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagtacgccagcgtccagGtcccgaggaagtgaatggga	11	5	15	10	3	0	2	0	1	0	1	2	5	2	4	3	3	2	1	3	3	3	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.1501G>T	p.Val501Phe	p.V501F	ENST00000400068	9/9	107	100	7	139	139	0	strelka-varscan-mutect	SIRPA,missense_variant,p.Val505Phe,ENST00000622179,;SIRPA,missense_variant,p.Val501Phe,ENST00000400068,NM_001040022.1;SIRPA,missense_variant,p.Val501Phe,ENST00000358771,NM_001040023.1;SIRPA,missense_variant,p.Val501Phe,ENST00000356025,NM_080792.2;	T	ENST00000400068	Transcript	missense_variant	1861/4201	1501/1515	501/504	V/F	Gtc/Ttc		1		1	SIRPA	HGNC	HGNC:9662	protein_coding	YES	CCDS13022.1	ENSP00000382941	P78324		UPI0000073ADE	NM_001040022.1	deleterious(0)		9/9																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	1937554	1937554	G	T	1	0	0	0	0	1	0	0	0	14595	1261	44	2		2	SIRPA	20	1937554	Missense_Mutation	SNP	G	C3N-01489_TP	12748	1937554	62506613	679	27225											
ADAM33	0	.	GRCh38	chr20	3672186	3672186	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgtgggacatgcgccatcCcagcagtagccactgcccct	8	6	11	16	2	0	0	0	0	0	0	1	1	1	1	5	1	5	2	5	1	1	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1545G>T	p.Trp515Cys	p.W515C	ENST00000356518	14/22	95	88	7	145	145	0	strelka-varscan-mutect	ADAM33,missense_variant,p.Trp515Cys,ENST00000356518,NM_025220.3;ADAM33,missense_variant,p.Trp515Cys,ENST00000379861,NM_001282447.1;ADAM33,missense_variant,p.Trp515Cys,ENST00000350009,NM_153202.2;ADAM33,missense_variant,p.Trp395Cys,ENST00000619289,;ADAM33,intron_variant,,ENST00000617732,;ADAM33,non_coding_transcript_exon_variant,,ENST00000466620,;ADAM33,upstream_gene_variant,,ENST00000483362,;	A	ENST00000356518	Transcript	missense_variant	1787/3677	1545/2442	515/813	W/C	tgG/tgT		1		-1	ADAM33	HGNC	HGNC:15478	protein_coding	YES	CCDS13058.1	ENSP00000348912	Q9BZ11		UPI0000048F2A	NM_025220.3	deleterious(0.01)		14/22		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF38,Pfam_domain:PF08516,SMART_domains:SM00608																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	3672186	3672186	C	A	1	0	0	0	0	1	0	0	0	294	624	22	2		2	ADAM33	20	3672186	Missense_Mutation	SNP	C	C3N-01489_TP	1734632	3672186	60771981	680	27226											
PLCB4	0	.	GRCh38	chr20	9453397	9453397	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaagttgacaaaattgtGgcacagtatgacaaagagaa	18	7	10	6	1	0	3	0	2	0	1	0	4	0	3	0	1	0	4	0	1	6	3			C3N-01489_TP	C3N-01489_NB	G	G																c.2895G>T	p.=	p.V965V	ENST00000378501	29/36	203	176	27	287	287	0	strelka-varscan-mutect	PLCB4,synonymous_variant,p.=,ENST00000378501,NM_000933.3;PLCB4,synonymous_variant,p.=,ENST00000378493,;PLCB4,synonymous_variant,p.=,ENST00000378473,NM_001172646.1;PLCB4,synonymous_variant,p.=,ENST00000278655,NM_182797.2;PLCB4,synonymous_variant,p.=,ENST00000414679,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;	T	ENST00000378501	Transcript	synonymous_variant	2910/5833	2895/3585	965/1194	V	gtG/gtT	COSM383313	1		1	PLCB4	HGNC	HGNC:9059	protein_coding	YES	CCDS13104.1	ENSP00000367762	Q15147		UPI00002069DF	NM_000933.3			29/36		Superfamily_domains:0053448,Gene3D:1jadA00,Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF000956,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF106											1						LOW	1	SNV	5		1	1										PASS		.	.												T	2	4	81	9453397	9453397	G	T	1	0	0	0	0	0	0	0	1	12124	1335	47	2		2	PLCB4	20	9453397	Silent	SNP	G	C3N-01489_TP	5781211	9453397	54990770	681	27227											
CFAP61	0	.	GRCh38	chr20	20263035	20263035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtcagcggcggtacaCggggaaagttccttgcaacc	10	6	13	12	3	1	0	1	0	0	0	2	1	2	1	2	4	5	4	2	4	3	3	rs780255308		C3N-01489_TP	C3N-01489_NB	C	C																c.2408C>A	p.Thr803Lys	p.T803K	ENST00000245957	21/27	231	198	33	272	271	1	strelka-varscan-mutect	CFAP61,missense_variant,p.Thr803Lys,ENST00000245957,NM_015585.3;CFAP61,missense_variant,p.Thr159Lys,ENST00000377293,;CFAP61,missense_variant,p.Thr159Lys,ENST00000389656,;RP5-1096J16.1,intron_variant,,ENST00000460400,;CFAP61,non_coding_transcript_exon_variant,,ENST00000488640,;CFAP61,missense_variant,p.Thr159Lys,ENST00000377308,;	A	ENST00000245957	Transcript	missense_variant	2484/4082	2408/3714	803/1237	T/K	aCg/aAg	rs780255308,COSM3378986,COSM3378987,COSM4096997,COSM4096998	1		1	CFAP61	HGNC	HGNC:15872	protein_coding	YES	CCDS33447.1	ENSP00000245957	Q8NHU2		UPI0000206AE4	NM_015585.3	tolerated(0.08)		21/27		hmmpanther:PTHR21178,hmmpanther:PTHR21178:SF8											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs780255308	.												A	3	1	81	20263035	20263035	C	A	1	0	0	0	0	1	0	0	0	3028	536	19	1		1	CFAP61	20	20263035	Missense_Mutation	SNP	C	C3N-01489_TP	10809638	20263035	44181132	682	27228											
VSX1	0	.	GRCh38	chr20	25076473	25076473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctagaaccttctttgaagtGgtcagagccccagagtcctg	9	10	11	11	0	2	4	1	1	1	3	3	4	3	4	4	1	2	1	4	1	3	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.886C>A	p.His296Asn	p.H296N	ENST00000376709	5/5	250	220	30	371	370	1	strelka-varscan-mutect	VSX1,missense_variant,p.His296Asn,ENST00000376709,NM_014588.5;VSX1,intron_variant,,ENST00000429762,NM_001256272.1;VSX1,intron_variant,,ENST00000444511,NM_001256271.1;VSX1,downstream_gene_variant,,ENST00000376707,NM_199425.2;VSX1,non_coding_transcript_exon_variant,,ENST00000557285,;VSX1,intron_variant,,ENST00000409285,;VSX1,intron_variant,,ENST00000409958,;	T	ENST00000376709	Transcript	missense_variant	1155/2192	886/1098	296/365	H/N	Cac/Aac		1		-1	VSX1	HGNC	HGNC:12723	protein_coding	YES	CCDS13168.1	ENSP00000365899	Q9NZR4		UPI0000138E43	NM_014588.5	tolerated(0.08)		5/5		hmmpanther:PTHR24323																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	25076473	25076473	G	T	1	0	0	0	0	1	0	0	0	17785	1348	47	2		2	VSX1	20	25076473	Missense_Mutation	SNP	G	C3N-01489_TP	4813438	25076473	39367694	683	27229											
REM1	0	.	GRCh38	chr20	31484415	31484415	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctccaagtcctgccacaaTctggccgtgctctgaagccc	7	8	9	17	2	2	1	0	1	2	0	4	1	4	1	5	1	3	2	5	1	3	0	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.882T>A	p.Asn294Lys	p.N294K	ENST00000201979	5/5	48	42	6	76	76	0	strelka-varscan-mutect	REM1,missense_variant,p.Asn294Lys,ENST00000201979,NM_014012.5;LINC00028,upstream_gene_variant,,ENST00000435497,;	A	ENST00000201979	Transcript	missense_variant	1175/1665	882/897	294/298	N/K	aaT/aaA		1		1	REM1	HGNC	HGNC:15922	protein_coding	YES	CCDS13181.1	ENSP00000201979	O75628		UPI0000073CEB	NM_014012.5	deleterious(0)		5/5		PIRSF_domain:PIRSF038017,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF260																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	31484415	31484415	T	A	1	0	0	0	0	1	0	0	0	13392	1432	50	4		4	REM1	20	31484415	Missense_Mutation	SNP	T	C3N-01489_TP	6407942	31484415	32959752	684	27230											
BPIFA3	0	.	GRCh38	chr20	33217620	33217620	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaagcagccttggcctggCctggcccaagcccacagaga	10	4	11	16	0	0	1	0	0	0	1	0	2	0	1	5	3	3	1	5	3	2	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.84C>A	p.=	p.G28G	ENST00000375454	1/7	197	178	19	273	272	1	strelka-varscan-mutect	BPIFA3,synonymous_variant,p.=,ENST00000375454,NM_178466.4;BPIFA3,synonymous_variant,p.=,ENST00000375452,NM_001042439.2;RP11-49G10.3,upstream_gene_variant,,ENST00000419613,;BPIFA3,non_coding_transcript_exon_variant,,ENST00000490499,;BPIFA3,non_coding_transcript_exon_variant,,ENST00000471233,;	A	ENST00000375454	Transcript	synonymous_variant	294/1116	84/765	28/254	G	ggC/ggA		1		1	BPIFA3	HGNC	HGNC:16204	protein_coding	YES	CCDS13216.2	ENSP00000364603	Q9BQP9		UPI00003E72D6	NM_178466.4			1/7		hmmpanther:PTHR10504:SF85,hmmpanther:PTHR10504																	LOW		SNV	5			1										PASS		.	.												A	2	1	81	33217620	33217620	C	A	1	0	0	0	0	0	0	0	1	1656	726	26	2		2	BPIFA3	20	33217620	Silent	SNP	C	C3N-01489_TP	1733205	33217620	31226547	685	27231											
BPIFA1	0	.	GRCh38	chr20	33240237	33240237	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtctcctttgcaggcccCtggtcggtgcaagtctgttg	3	13	13	12	1	2	0	0	0	2	0	4	0	2	0	3	3	2	4	3	3	1	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.433C>A	p.Leu145Met	p.L145M	ENST00000354297	5/9	92	82	10	168	167	1	strelka-varscan-mutect	BPIFA1,missense_variant,p.Leu145Met,ENST00000354297,NM_130852.2;BPIFA1,missense_variant,p.Leu145Met,ENST00000375422,NM_001243193.1;BPIFA1,missense_variant,p.Leu145Met,ENST00000375413,NM_016583.3;BPIFA1,missense_variant,p.Leu131Met,ENST00000618484,;	A	ENST00000354297	Transcript	missense_variant	504/1079	433/771	145/256	L/M	Ctg/Atg		1		1	BPIFA1	HGNC	HGNC:15749	protein_coding	YES	CCDS13217.1	ENSP00000346251	Q9NP55		UPI0000048F11	NM_130852.2	tolerated(0.07)		5/9		hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF70,Pfam_domain:PF01273,Superfamily_domains:SSF55394																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	33240237	33240237	C	A	1	0	0	0	0	1	0	0	0	1654	695	24	2		2	BPIFA1	20	33240237	Missense_Mutation	SNP	C	C3N-01489_TP	22617	33240237	31203930	686	27232											
C20orf144	0	.	GRCh38	chr20	33663799	33663799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccggtccccggggaaggctCcccgcgaagccggccccgcc	4	3	14	20	6	0	0	0	0	0	0	3	2	3	1	9	5	1	1	9	5	2	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.394C>T	p.Pro132Ser	p.P132S	ENST00000375222	2/2	53	47	6	107	107	0	strelka-varscan-mutect	C20orf144,missense_variant,p.Pro132Ser,ENST00000375222,NM_080825.3;NECAB3,intron_variant,,ENST00000246190,NM_031232.3;NECAB3,intron_variant,,ENST00000375238,NM_031231.3;NECAB3,intron_variant,,ENST00000439478,;NECAB3,intron_variant,,ENST00000606690,;NECAB3,intron_variant,,ENST00000480994,;ACTL10,upstream_gene_variant,,ENST00000330271,NM_001024675.1;NECAB3,intron_variant,,ENST00000494174,;NECAB3,intron_variant,,ENST00000606106,;NECAB3,upstream_gene_variant,,ENST00000606525,;NECAB3,upstream_gene_variant,,ENST00000483813,;NECAB3,upstream_gene_variant,,ENST00000485976,;NECAB3,upstream_gene_variant,,ENST00000478237,;NECAB3,upstream_gene_variant,,ENST00000463246,;NECAB3,upstream_gene_variant,,ENST00000498353,;NECAB3,upstream_gene_variant,,ENST00000477778,;C20orf144,non_coding_transcript_exon_variant,,ENST00000607738,;NECAB3,intron_variant,,ENST00000488489,;NECAB3,intron_variant,,ENST00000485399,;NECAB3,intron_variant,,ENST00000606699,;NECAB3,intron_variant,,ENST00000607805,;NECAB3,intron_variant,,ENST00000493590,;	T	ENST00000375222	Transcript	missense_variant	456/571	394/462	132/153	P/S	Ccc/Tcc		1		1	C20orf144	HGNC	HGNC:16137	protein_coding	YES	CCDS13223.1	ENSP00000364370	Q9BQM9		UPI0000128613	NM_080825.3	tolerated_low_confidence(0.66)		2/2		hmmpanther:PTHR37335,hmmpanther:PTHR37335:SF1,Pfam_domain:PF15318																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	33663799	33663799	C	T	1	0	0	0	0	1	0	0	0	2003	855	30	3		3	C20orf144	20	33663799	Missense_Mutation	SNP	C	C3N-01489_TP	423562	33663799	30780368	687	27233											
SLC32A1	0	.	GRCh38	chr20	38727937	38727937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctatcgcgggcgcgcgactgGgcctgggagaaggtcaagtt	7	7	17	10	5	1	1	1	0	0	1	2	3	1	1	1	4	0	1	1	4	3	2			C3N-01489_TP	C3N-01489_NB	G	G																c.876G>T	p.Trp292Cys	p.W292C	ENST00000217420	2/2	361	315	46	527	527	0	strelka-varscan-mutect	SLC32A1,missense_variant,p.Trp292Cys,ENST00000217420,NM_080552.2;	T	ENST00000217420	Transcript	missense_variant	1139/2574	876/1578	292/525	W/C	tgG/tgT	COSM3963556	1		1	SLC32A1	HGNC	HGNC:11018	protein_coding	YES	CCDS13307.1	ENSP00000217420	Q9H598		UPI0000043423	NM_080552.2	deleterious(0)		2/2		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF221											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	81	38727937	38727937	G	T	1	0	0	0	0	1	0	0	0	14835	1241	43	2		2	SLC32A1	20	38727937	Missense_Mutation	SNP	G	C3N-01489_TP	5064138	38727937	25716230	688	27234											
PTPRT	0	.	GRCh38	chr20	42106826	42106826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttgggcccggagctcaCgcacgcagttgaagatgtcc	7	8	12	14	3	1	2	1	1	0	1	2	3	2	3	3	2	1	4	3	2	1	2	rs182388300		C3N-01489_TP	C3N-01489_NB	C	C																c.3407G>T	p.Arg1136Leu	p.R1136L	ENST00000373198	25/32	162	145	17	229	229	0	strelka-mutect	PTPRT,missense_variant,p.Arg1136Leu,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Arg1139Leu,ENST00000373193,;PTPRT,missense_variant,p.Arg1107Leu,ENST00000373201,;PTPRT,missense_variant,p.Arg1116Leu,ENST00000373190,;PTPRT,missense_variant,p.Arg1127Leu,ENST00000373184,;PTPRT,missense_variant,p.Arg1126Leu,ENST00000356100,;PTPRT,missense_variant,p.Arg1117Leu,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Arg735Leu,ENST00000612229,;PTPRT,missense_variant,p.Arg752Leu,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	A	ENST00000373198	Transcript	missense_variant	3643/12746	3407/4383	1136/1460	R/L	cGt/cTt	rs182388300	1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	deleterious(0)		25/32		Gene3D:3.90.190.10,Pfam_domain:PF00102,Prints_domain:PR00700,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799																	MODERATE	1	SNV	2			1										PASS		rs182388300	.												A	3	1	81	42106826	42106826	C	A	1	0	0	0	0	1	0	0	0	12967	536	19	1		1	PTPRT	20	42106826	Missense_Mutation	SNP	C	C3N-01489_TP	3378889	42106826	22337341	689	27235											
PTPRT	0	.	GRCh38	chr20	42472486	42472486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgggtcaccgcgtagccGaagggctcccactgcagggt	7	5	15	14	4	1	0	1	0	0	0	2	1	2	0	3	3	3	3	3	3	2	1	rs778297716		C3N-01489_TP	C3N-01489_NB	G	G																c.1230C>A	p.Phe410Leu	p.F410L	ENST00000373198	8/32	286	260	26	376	376	0	strelka-varscan-mutect	PTPRT,missense_variant,p.Phe410Leu,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Phe410Leu,ENST00000373193,;PTPRT,missense_variant,p.Phe410Leu,ENST00000373201,;PTPRT,missense_variant,p.Phe410Leu,ENST00000373190,;PTPRT,missense_variant,p.Phe410Leu,ENST00000373184,;PTPRT,missense_variant,p.Phe410Leu,ENST00000356100,;PTPRT,missense_variant,p.Phe410Leu,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Phe28Leu,ENST00000612229,;PTPRT,missense_variant,p.Phe26Leu,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	T	ENST00000373198	Transcript	missense_variant	1466/12746	1230/4383	410/1460	F/L	ttC/ttA	rs778297716	1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	tolerated(1)		8/32		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,SMART_domains:SM00060,Superfamily_domains:SSF49265,Superfamily_domains:SSF49265																	MODERATE	1	SNV	2			1										PASS		rs778297716	.												T	3	4	81	42472486	42472486	G	T	1	0	0	0	0	1	0	0	0	12967	1049	37	1		1	PTPRT	20	42472486	Missense_Mutation	SNP	G	C3N-01489_TP	365660	42472486	21971681	690	27236											
SEMG2	0	.	GRCh38	chr20	45222590	45222590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatttctatccaaactgaaGagaaaatacatggcaagtct	16	10	7	8	0	2	2	0	1	2	1	3	3	3	2	1	1	2	2	1	1	7	3	rs572541768		C3N-01489_TP	C3N-01489_NB	G	G																c.958G>A	p.Glu320Lys	p.E320K	ENST00000372769	2/3	277	248	29	401	400	1	strelka-varscan-mutect	SEMG2,missense_variant,p.Glu320Lys,ENST00000372769,NM_003008.2;	A	ENST00000372769	Transcript	missense_variant	1048/2051	958/1749	320/582	E/K	Gag/Aag	rs572541768	1		1	SEMG2	HGNC	HGNC:10743	protein_coding	YES	CCDS13346.1	ENSP00000361855	Q02383		UPI0000135845	NM_003008.2	tolerated(0.37)		2/3		Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF6																	MODERATE	1	SNV	1			1										PASS		rs572541768	.												A	3	1	81	45222590	45222590	G	A	1	0	0	0	0	1	0	0	0	14321	943	33	3		3	SEMG2	20	45222590	Missense_Mutation	SNP	G	C3N-01489_TP	2750104	45222590	19221577	691	27237											
ZSWIM3	0	.	GRCh38	chr20	45877739	45877739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaacacctacatggacaGcctagacattgtcaccagca	13	8	8	12	0	1	1	1	0	0	1	1	2	1	2	3	1	4	2	3	1	3	4			C3N-01489_TP	C3N-01489_NB	G	G																c.1181G>T	p.Ser394Ile	p.S394I	ENST00000255152	2/2	103	94	9	208	208	0	strelka-varscan-mutect	ZSWIM3,missense_variant,p.Ser394Ile,ENST00000255152,NM_080752.3;ZSWIM1,upstream_gene_variant,,ENST00000372523,NM_080603.4;ZSWIM1,upstream_gene_variant,,ENST00000372520,;	T	ENST00000255152	Transcript	missense_variant	1390/2773	1181/2091	394/696	S/I	aGc/aTc	COSM3389782,COSM3389783	1		1	ZSWIM3	HGNC	HGNC:16157	protein_coding	YES	CCDS13381.1	ENSP00000255152	Q96MP5		UPI00000736E4	NM_080752.3	deleterious(0)		2/2		hmmpanther:PTHR31569:SF3,hmmpanther:PTHR31569											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	81	45877739	45877739	G	T	1	0	0	0	0	1	0	0	0	18843	971	34	2		2	ZSWIM3	20	45877739	Missense_Mutation	SNP	G	C3N-01489_TP	655149	45877739	18566428	692	27238											
PREX1	0	.	GRCh38	chr20	48651532	48651532	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacagtcagggtgaccatgGggctgtcctcacacaggctc	8	7	12	14	0	2	1	2	1	0	0	4	1	3	1	3	4	0	2	3	4	0	0	rs138280268		C3N-01489_TP	C3N-01489_NB	G	G																c.2519C>G	p.Pro840Arg	p.P840R	ENST00000371941	22/40	111	103	8	175	175	0	strelka-varscan-mutect	PREX1,missense_variant,p.Pro840Arg,ENST00000371941,NM_020820.3;PREX1,missense_variant,p.Pro162Arg,ENST00000482556,;	C	ENST00000371941	Transcript	missense_variant	2542/6636	2519/4980	840/1659	P/R	cCc/cGc	rs138280268	1		-1	PREX1	HGNC	HGNC:32594	protein_coding	YES	CCDS13410.1	ENSP00000361009	Q8TCU6		UPI000013D375	NM_020820.3	deleterious(0)		22/40		hmmpanther:PTHR22829:SF6,hmmpanther:PTHR22829																	MODERATE	1	SNV	1			1										PASS		rs138280268	.												C	3	2	81	48651532	48651532	G	C	1	0	0	0	0	1	0	0	0	12610	1232	43	4		4	PREX1	20	48651532	Missense_Mutation	SNP	G	C3N-01489_TP	2773793	48651532	15792635	693	27239											
ARFGEF2	0	.	GRCh38	chr20	49033023	49033023	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttctctcccacctcaagTtcaaagcacatgcttcaatg	10	13	5	13	0	4	0	3	0	1	0	6	0	5	0	2	0	2	4	2	0	3	3	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.5182T>A	p.Phe1728Ile	p.F1728I	ENST00000371917	39/39	241	220	21	356	356	0	strelka-varscan-mutect	ARFGEF2,missense_variant,p.Phe1728Ile,ENST00000371917,NM_006420.2;	A	ENST00000371917	Transcript	missense_variant,splice_region_variant	5182/8852	5182/5358	1728/1785	F/I	Ttc/Atc		1		1	ARFGEF2	HGNC	HGNC:15853	protein_coding	YES	CCDS13411.1	ENSP00000360985	Q9Y6D5		UPI000013D378	NM_006420.2	deleterious(0.02)		39/39		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF124,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs1490090353	.												A	3	1	81	49033023	49033023	T	A	1	0	0	0	0	1	0	0	0	976	1739	60	4		4	ARFGEF2	20	49033023	Missense_Mutation	SNP	T	C3N-01489_TP	381491	49033023	15411144	694	27240											
ATP9A	0	.	GRCh38	chr20	51713019	51713019	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacttccttgtcccgcacgTagcatcggatctcctccacc	6	11	7	17	3	1	1	0	1	1	0	6	2	4	2	5	1	1	3	5	1	1	3	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.383A>G	p.Tyr128Cys	p.Y128C	ENST00000338821	4/28	402	362	40	523	523	0	strelka-varscan-mutect	ATP9A,missense_variant,p.Tyr128Cys,ENST00000338821,NM_006045.2;ATP9A,missense_variant,p.Tyr113Cys,ENST00000311637,;	C	ENST00000338821	Transcript	missense_variant	648/8106	383/3144	128/1047	Y/C	tAc/tGc		1		-1	ATP9A	HGNC	HGNC:13540	protein_coding	YES	CCDS33489.1	ENSP00000342481	O75110		UPI000004D334	NM_006045.2	tolerated(0.06)		4/28		Superfamily_domains:0049473,Gene3D:2.70.150.10,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF49,TIGRFAM_domain:TIGR01652																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	81	51713019	51713019	T	C	1	0	0	0	0	1	0	0	0	1351	1638	57	5		5	ATP9A	20	51713019	Missense_Mutation	SNP	T	C3N-01489_TP	2679996	51713019	12731148	695	27241											
ZFP64	0	.	GRCh38	chr20	52104780	52104780	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttccaggcgcgcagcCgaagcccagtgccaaggagg	9	3	13	16	3	0	0	0	0	0	0	1	2	1	1	6	3	3	1	6	3	2	1	rs543049444		C3N-01489_TP	C3N-01489_NB	C	C																c.45G>T	p.=	p.S15S	ENST00000395989	1/5	227	210	17	272	272	0	strelka-varscan-mutect	ZFP64,synonymous_variant,p.=,ENST00000395989,;ZFP64,synonymous_variant,p.=,ENST00000395979,;ZFP64,intron_variant,,ENST00000361387,NM_199427.2;ZFP64,intron_variant,,ENST00000371523,NM_001319146.1;ZFP64,intron_variant,,ENST00000371518,;ZFP64,intron_variant,,ENST00000477786,;	A	ENST00000395989	Transcript	synonymous_variant	144/762	45/663	15/221	S	tcG/tcT	rs543049444	1		-1	ZFP64	HGNC	HGNC:15940	protein_coding			ENSP00000379312		A2A2N5	UPI0000E5A345				1/5																			LOW		SNV	5			1										PASS		rs543049444	.												A	2	1	81	52104780	52104780	C	A	1	0	0	0	0	0	0	0	1	18228	639	23	1		1	ZFP64	20	52104780	Silent	SNP	C	C3N-01489_TP	391761	52104780	12339387	696	27242											
TSHZ2	0	.	GRCh38	chr20	53254696	53254696	+	Missense_Mutation	SNP	C	C	A																															caaggtcaccagctctgcctCcaagaaagggaagcagctgg																								novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1238C>A	p.Ser413Tyr	p.S413Y	ENST00000371497	2/3	93	85	8	175	175	0	strelka-varscan-mutect	TSHZ2,missense_variant,p.Ser413Tyr,ENST00000371497,NM_173485.5;TSHZ2,missense_variant,p.Ser410Tyr,ENST00000603338,NM_001193421.1;TSHZ2,missense_variant,p.Ser410Tyr,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	A	ENST00000371497	Transcript	missense_variant	2125/12187	1238/3105	413/1034	S/Y	tCc/tAc		1		1	TSHZ2	HGNC	HGNC:13010	protein_coding	YES	CCDS33490.1	ENSP00000360552	Q9NRE2		UPI0000206747	NM_173485.5	deleterious(0.04)		2/3		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	53254696	53254696	C	A	1	0	0	0	0	1	0	0	0	17129	855	30	2		2	TSHZ2	20	53254696	Missense_Mutation	SNP	C	C3N-01489_TP	1149916	53254696	11189471	697	27243	575	2									
TSHZ2	0	.	GRCh38	chr20	53254697	53254697	+	Silent	SNP	C	C	A																															aaggtcaccagctctgcctcCaagaaagggaagcagctggt																								novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1239C>A	p.=	p.S413S	ENST00000371497	2/3	92	83	9	174	174	0	strelka-varscan-mutect	TSHZ2,synonymous_variant,p.=,ENST00000371497,NM_173485.5;TSHZ2,synonymous_variant,p.=,ENST00000603338,NM_001193421.1;TSHZ2,synonymous_variant,p.=,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;	A	ENST00000371497	Transcript	synonymous_variant	2126/12187	1239/3105	413/1034	S	tcC/tcA		1		1	TSHZ2	HGNC	HGNC:13010	protein_coding	YES	CCDS33490.1	ENSP00000360552	Q9NRE2		UPI0000206747	NM_173485.5			2/3		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF3																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	53254697	53254697	C	A	1	0	0	0	0	0	0	0	1	17129	581	21	2		2	TSHZ2	20	53254697	Silent	SNP	C	C3N-01489_TP	1	53254697	11189470	698	27244	575	2									
BMP7	0	.	GRCh38	chr20	57174931	57174931	+	Missense_Mutation	SNP	C	C	A																															agacccagccagccccttacCtgccagcccaggtctcggaa																								rs572448202		C3N-01489_TP	C3N-01489_NB	C	C																c.1035G>T	p.Gln345His	p.Q345H	ENST00000395863	5/7	516	468	48	645	643	2	strelka-varscan-mutect	BMP7,missense_variant,p.Gln345His,ENST00000395863,NM_001719.2;BMP7,missense_variant,p.Gln345His,ENST00000450594,;BMP7,missense_variant,p.Gln279His,ENST00000395864,;BMP7,missense_variant,p.Gln267His,ENST00000433911,;BMP7,splice_region_variant,,ENST00000460817,;BMP7,downstream_gene_variant,,ENST00000463939,;BMP7,upstream_gene_variant,,ENST00000476877,;	A	ENST00000395863	Transcript	missense_variant,splice_region_variant	1541/4013	1035/1296	345/431	Q/H	caG/caT	rs572448202	1		-1	BMP7	HGNC	HGNC:1074	protein_coding	YES	CCDS13455.1	ENSP00000379204	P18075	A8K571	UPI00000349AD	NM_001719.2	tolerated(0.11)		5/7		Gene3D:2.10.90.10,Pfam_domain:PF00019,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135,SMART_domains:SM00204,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		rs572448202	.												A	3	1	81	57174931	57174931	C	A	1	0	0	0	0	1	0	0	0	1620	695	24	2		2	BMP7	20	57174931	Missense_Mutation	SNP	C	C3N-01489_TP	3920234	57174931	7269236	699	27245	576	2									
BMP7	0	.	GRCh38	chr20	57174932	57174932	+	Missense_Mutation	SNP	T	T	A																															gacccagccagccccttaccTgccagcccaggtctcggaag																								novel		C3N-01489_TP	C3N-01489_NB	T	T																c.1034A>T	p.Gln345Leu	p.Q345L	ENST00000395863	5/7	515	466	49	643	643	0	strelka-varscan-mutect	BMP7,missense_variant,p.Gln345Leu,ENST00000395863,NM_001719.2;BMP7,missense_variant,p.Gln345Leu,ENST00000450594,;BMP7,missense_variant,p.Gln279Leu,ENST00000395864,;BMP7,missense_variant,p.Gln267Leu,ENST00000433911,;BMP7,splice_region_variant,,ENST00000460817,;BMP7,downstream_gene_variant,,ENST00000463939,;BMP7,upstream_gene_variant,,ENST00000476877,;	A	ENST00000395863	Transcript	missense_variant,splice_region_variant	1540/4013	1034/1296	345/431	Q/L	cAg/cTg		1		-1	BMP7	HGNC	HGNC:1074	protein_coding	YES	CCDS13455.1	ENSP00000379204	P18075	A8K571	UPI00000349AD	NM_001719.2	tolerated(0.6)		5/7		Gene3D:2.10.90.10,Pfam_domain:PF00019,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135,SMART_domains:SM00204,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	57174932	57174932	T	A	1	0	0	0	0	1	0	0	0	1620	1594	55	4		4	BMP7	20	57174932	Missense_Mutation	SNP	T	C3N-01489_TP	1	57174932	7269235	700	27246	576	2									
CTSZ	0	.	GRCh38	chr20	59006387	59006387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgggggatgtgctggttcCgggtgatgctggcatagttg	5	13	18	5	1	0	1	0	1	0	0	1	2	1	2	1	5	2	5	1	5	1	4	rs773567578		C3N-01489_TP	C3N-01489_NB	C	C																c.242G>T	p.Arg81Leu	p.R81L	ENST00000217131	2/6	192	175	17	239	239	0	strelka-varscan-mutect	CTSZ,missense_variant,p.Arg81Leu,ENST00000217131,NM_001336.3;CTSZ,non_coding_transcript_exon_variant,,ENST00000503833,;CTSZ,non_coding_transcript_exon_variant,,ENST00000488395,;CTSZ,non_coding_transcript_exon_variant,,ENST00000472025,;	A	ENST00000217131	Transcript	missense_variant	361/1495	242/912	81/303	R/L	cGg/cTg	rs773567578	1		-1	CTSZ	HGNC	HGNC:2547	protein_coding	YES	CCDS13474.1	ENSP00000217131	Q9UBR2		UPI000000D9CC	NM_001336.3	deleterious(0.02)		2/6		hmmpanther:PTHR12411:SF377,hmmpanther:PTHR12411,Pfam_domain:PF00112,Gene3D:3.90.70.10,SMART_domains:SM00645,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		rs773567578	.												A	3	1	81	59006387	59006387	C	A	1	0	0	0	0	1	0	0	0	3852	652	23	1		1	CTSZ	20	59006387	Missense_Mutation	SNP	C	C3N-01489_TP	1831455	59006387	5437780	701	27247											
FAM217B	0	.	GRCh38	chr20	59944676	59944676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggggcttcaaagtcaGgcccttcccgaaagaaagct	13	6	12	10	1	2	1	2	0	0	1	3	3	3	2	2	4	1	2	2	4	4	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.733G>T	p.Gly245Cys	p.G245C	ENST00000358293	5/5	295	268	27	432	431	1	strelka-varscan-mutect	FAM217B,missense_variant,p.Gly245Cys,ENST00000358293,NM_001190826.1;FAM217B,missense_variant,p.Gly245Cys,ENST00000360816,NM_001190827.1,NM_022106.2;PPP1R3D,upstream_gene_variant,,ENST00000370996,NM_006242.3;FAM217B,downstream_gene_variant,,ENST00000421092,;FAM217B,non_coding_transcript_exon_variant,,ENST00000469084,;	T	ENST00000358293	Transcript	missense_variant	1148/5152	733/1152	245/383	G/C	Ggc/Tgc		1		1	FAM217B	HGNC	HGNC:16170	protein_coding	YES	CCDS13484.1	ENSP00000351040	Q9NTX9		UPI0000128624	NM_001190826.1	deleterious(0.01)		5/5		Pfam_domain:PF15344,hmmpanther:PTHR22145,hmmpanther:PTHR22145:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	81	59944676	59944676	G	T	1	0	0	0	0	1	0	0	0	5407	1000	35	2		2	FAM217B	20	59944676	Missense_Mutation	SNP	G	C3N-01489_TP	938289	59944676	4499491	702	27248											
HELZ2	0	.	GRCh38	chr20	63563511	63563511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggagccgtaggggaCggggcaggggtcaggcagcg	7	3	22	9	3	1	0	1	0	0	0	1	2	1	2	1	8	3	4	1	8	1	1	rs369651267		C3N-01489_TP	C3N-01489_NB	C	C																c.5311G>A	p.Val1771Ile	p.V1771I	ENST00000467148	8/19	46	39	7	54	54	0	strelka-varscan-mutect	HELZ2,missense_variant,p.Val1771Ile,ENST00000467148,NM_001037335.2;HELZ2,missense_variant,p.Val1202Ile,ENST00000427522,NM_033405.3;HELZ2,upstream_gene_variant,,ENST00000478861,;HELZ2,downstream_gene_variant,,ENST00000454223,;	T	ENST00000467148	Transcript	missense_variant	5381/8064	5311/7950	1771/2649	V/I	Gtc/Atc	rs369651267	1		-1	HELZ2	HGNC	HGNC:30021	protein_coding	YES	CCDS33508.1	ENSP00000417401	Q9BYK8		UPI0000246BF7	NM_001037335.2	tolerated(0.89)		8/19																			MODERATE	1	SNV	1			1										PASS		rs369651267	.												T	3	4	81	63563511	63563511	C	T	1	0	0	0	0	1	0	0	0	6932	536	19	1		1	HELZ2	20	63563511	Missense_Mutation	SNP	C	C3N-01489_TP	3618835	63563511	880656	703	27249											
CHODL	0	.	GRCh38	chr21	18257059	18257059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caatcctggccttgggggtcCctacctttaccagtggaatg	7	11	11	12	0	0	0	0	0	0	0	2	1	2	1	5	4	2	0	5	4	4	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.479C>A	p.Pro160His	p.P160H	ENST00000299295	3/6	102	93	9	169	169	0	strelka-varscan-mutect	CHODL,missense_variant,p.Pro160His,ENST00000299295,NM_024944.2;CHODL,missense_variant,p.Pro119His,ENST00000400128,;CHODL,missense_variant,p.Pro119His,ENST00000400127,NM_001204176.1,NM_001204175.1;CHODL,missense_variant,p.Pro119His,ENST00000400135,NM_001204178.1;CHODL,missense_variant,p.Pro119His,ENST00000400131,NM_001204177.1;CHODL,missense_variant,p.Pro119His,ENST00000338326,;CHODL,missense_variant,p.Pro141His,ENST00000543733,NM_001204174.1;	A	ENST00000299295	Transcript	missense_variant	870/2548	479/822	160/273	P/H	cCc/cAc		1		1	CHODL	HGNC	HGNC:17807	protein_coding	YES	CCDS13570.1	ENSP00000299295	Q9H9P2		UPI0000037746	NM_024944.2	deleterious(0)		3/6		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR14789,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	18257059	18257059	C	A	1	0	0	0	0	1	0	0	0	3124	623	22	2		2	CHODL	21	18257059	Missense_Mutation	SNP	C	C3N-01489_TP		18257059	28452924	704	27250											
GABPA	0	.	GRCh38	chr21	25764684	25764684	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatttcttgggttggtgatGaaggtgaatttaagctaaat	11	15	12	3	0	1	3	0	3	1	0	1	3	1	3	0	3	1	3	0	3	5	6	rs2829900		C3N-01489_TP	C3N-01489_NB	G	G																c.1033G>C	p.Glu345Gln	p.E345Q	ENST00000354828	9/10	204	188	16	306	306	0	varscan-mutect	GABPA,missense_variant,p.Glu345Gln,ENST00000354828,NM_001197297.1;GABPA,missense_variant,p.Glu345Gln,ENST00000400075,NM_002040.3;LLPHP2,upstream_gene_variant,,ENST00000436405,;	C	ENST00000354828	Transcript	missense_variant	1560/5120	1033/1365	345/454	E/Q	Gaa/Caa	rs2829900	1		1	GABPA	HGNC	HGNC:4071	protein_coding	YES	CCDS13575.1	ENSP00000346886	Q06546	A8IE48	UPI000012AFB2	NM_001197297.1	deleterious(0.01)		9/10		Gene3D:1.10.10.10,Pfam_domain:PF00178,PIRSF_domain:PIRSF001703,Prints_domain:PR00454,PROSITE_profiles:PS50061,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF195,SMART_domains:SM00413,Superfamily_domains:SSF46785												21595933					MODERATE	1	SNV	1			1										PASS		rs2829900	.												C	3	2	81	25764684	25764684	G	C	1	0	0	0	0	1	0	0	0	6028	1291	45	4		4	GABPA	21	25764684	Missense_Mutation	SNP	G	C3N-01489_TP	7507625	25764684	20945299	705	27251											
LTN1	0	.	GRCh38	chr21	28956790	28956790	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagctcattattttctaaGactgtttcctttctcagtgc	8	18	5	10	0	4	1	3	0	2	1	6	1	5	1	1	0	2	2	1	0	3	6	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.3189C>G	p.=	p.V1063V	ENST00000614971	16/30	77	68	9	99	99	0	strelka-varscan-mutect	LTN1,synonymous_variant,p.=,ENST00000614971,NM_015565.2;LTN1,synonymous_variant,p.=,ENST00000389194,;LTN1,synonymous_variant,p.=,ENST00000361371,;LTN1,downstream_gene_variant,,ENST00000389195,;LTN1,downstream_gene_variant,,ENST00000475344,;LTN1,downstream_gene_variant,,ENST00000486427,;	C	ENST00000614971	Transcript	synonymous_variant	3202/7756	3189/5439	1063/1812	V	gtC/gtG		1		-1	LTN1	HGNC	HGNC:13082	protein_coding	YES	CCDS33527.2	ENSP00000478783	O94822		UPI000049DF6C	NM_015565.2			16/30		hmmpanther:PTHR12389																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	81	28956790	28956790	G	C	1	0	0	0	0	0	0	0	1	8987	929	33	4		4	LTN1	21	28956790	Silent	SNP	G	C3N-01489_TP	3192106	28956790	17753193	706	27252											
ITSN1	0	.	GRCh38	chr21	33867261	33867261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatggatcctcggtgtaaagGgatgccactctctagtttta	10	13	10	8	1	1	0	0	0	1	0	4	2	2	2	2	3	1	2	2	3	5	4	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.4103G>T	p.Gly1368Val	p.G1368V	ENST00000381318	33/40	219	195	24	346	346	0	strelka-varscan-mutect	ITSN1,missense_variant,p.Gly1368Val,ENST00000381318,NM_003024.2;ITSN1,missense_variant,p.Gly1363Val,ENST00000399367,;ITSN1,missense_variant,p.Gly104Val,ENST00000381284,;ITSN1,3_prime_UTR_variant,,ENST00000381285,;AP000304.12,intron_variant,,ENST00000429238,;	T	ENST00000381318	Transcript	missense_variant	4391/17015	4103/5166	1368/1721	G/V	gGg/gTg		1		1	ITSN1	HGNC	HGNC:6183	protein_coding	YES	CCDS33545.1	ENSP00000370719	Q15811		UPI00001403C6	NM_003024.2	deleterious(0)		33/40		PROSITE_profiles:PS50010,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	33867261	33867261	G	T	1	0	0	0	0	1	0	0	0	7832	1232	43	2		2	ITSN1	21	33867261	Missense_Mutation	SNP	G	C3N-01489_TP	4910471	33867261	12842722	707	27253											
BACE2	0	.	GRCh38	chr21	41168437	41168437	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccgagcgccacgccgaCggcttggcgctcgccctgga	4	5	14	18	7	0	0	0	0	0	0	1	3	0	1	5	3	2	2	5	3	0	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.174C>T	p.=	p.D58D	ENST00000330333	1/9	82	75	7	71	71	0	strelka-varscan-mutect	BACE2,synonymous_variant,p.=,ENST00000347667,NM_138991.2;BACE2,synonymous_variant,p.=,ENST00000330333,NM_012105.4;BACE2,synonymous_variant,p.=,ENST00000328735,NM_138992.2;MIR3197,downstream_gene_variant,,ENST00000582241,;	T	ENST00000330333	Transcript	synonymous_variant	637/2993	174/1557	58/518	D	gaC/gaT		1		1	BACE2	HGNC	HGNC:934	protein_coding	YES	CCDS13668.1	ENSP00000332979	Q9Y5Z0		UPI00000396BC	NM_012105.4			1/9		hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF262,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	41168437	41168437	C	T	1	0	0	0	0	0	0	0	1	1440	535	19	1		1	BACE2	21	41168437	Silent	SNP	C	C3N-01489_TP	7301176	41168437	5541546	708	27254											
PFKL	0	.	GRCh38	chr21	44306727	44306727	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcgcatgggcatttatgtGggtgccaaagtcttcctcat	8	12	11	10	2	2	0	1	0	1	0	3	0	3	0	2	2	1	2	2	2	2	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.132G>T	p.=	p.V44V	ENST00000349048	2/22	205	186	19	291	291	0	strelka-varscan-mutect	PFKL,synonymous_variant,p.=,ENST00000349048,NM_002626.5,NM_001002021.2;PFKL,downstream_gene_variant,,ENST00000628044,;PFKL,non_coding_transcript_exon_variant,,ENST00000496824,;PFKL,non_coding_transcript_exon_variant,,ENST00000491298,;PFKL,3_prime_UTR_variant,,ENST00000397961,;PFKL,non_coding_transcript_exon_variant,,ENST00000466134,;	T	ENST00000349048	Transcript	synonymous_variant	187/2912	132/2343	44/780	V	gtG/gtT		1		1	PFKL	HGNC	HGNC:8876	protein_coding	YES	CCDS33582.1	ENSP00000269848	P17858		UPI0000169D5F	NM_002626.5,NM_001002021.2			2/22		Gene3D:3.40.50.450,HAMAP:MF_03184,Pfam_domain:PF00365,PIRSF_domain:PIRSF000533,hmmpanther:PTHR13697,hmmpanther:PTHR13697:SF14,Superfamily_domains:SSF53784,TIGRFAM_domain:TIGR02478																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	44306727	44306727	G	T	1	0	0	0	0	0	0	0	1	11854	1335	47	2		2	PFKL	21	44306727	Silent	SNP	G	C3N-01489_TP	3138290	44306727	2403256	709	27255											
COL6A2	0	.	GRCh38	chr21	46112421	46112421	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccgcgaggagggcatccgGctcttcgccgtggcccccaa	5	5	14	17	5	1	0	0	0	1	0	3	2	2	1	5	4	0	2	5	4	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.558G>T	p.=	p.R186R	ENST00000300527	3/28	137	116	21	187	187	0	strelka-varscan-mutect	COL6A2,synonymous_variant,p.=,ENST00000300527,NM_001849.3;COL6A2,synonymous_variant,p.=,ENST00000310645,NM_058175.2;COL6A2,synonymous_variant,p.=,ENST00000409416,;COL6A2,synonymous_variant,p.=,ENST00000397763,NM_058174.2;COL6A2,downstream_gene_variant,,ENST00000436769,;COL6A2,non_coding_transcript_exon_variant,,ENST00000460886,;COL6A2,upstream_gene_variant,,ENST00000485591,;	T	ENST00000300527	Transcript	synonymous_variant	662/3461	558/3060	186/1019	R	cgG/cgT		1		1	COL6A2	HGNC	HGNC:2212	protein_coding	YES	CCDS13728.1	ENSP00000300527	P12110		UPI00001AECE0	NM_001849.3			3/28		PROSITE_profiles:PS50234,hmmpanther:PTHR24023:SF119,hmmpanther:PTHR24023,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	81	46112421	46112421	G	T	1	0	0	0	0	0	0	0	1	3489	1190	42	2		2	COL6A2	21	46112421	Silent	SNP	G	C3N-01489_TP	1805694	46112421	597562	710	27256											
OR11H1	0	.	GRCh38	chr22	15529105	15529105	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggagataaaggcagcccTgaggaaagttctggggagtt	13	8	15	5	0	1	2	0	1	1	1	1	5	1	4	1	5	1	3	1	5	4	4	rs200268371		C3N-01489_TP	C3N-01489_NB	T	T																c.947T>A	p.Leu316Gln	p.L316Q	ENST00000252835	1/1	135	121	14	242	242	0	varscan-mutect	OR11H1,missense_variant,p.Leu316Gln,ENST00000252835,NM_001005239.1;	A	ENST00000252835	Transcript	missense_variant	948/982	947/981	316/326	L/Q	cTg/cAg	rs200268371	1		1	OR11H1	HGNC	HGNC:15404	protein_coding	YES	CCDS74807.1	ENSP00000252835	Q8NG94		UPI000004B1CF	NM_001005239.1	deleterious(0)		1/1		hmmpanther:PTHR24242:SF201,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs200268371	.												A	3	1	81	15529105	15529105	T	A	1	0	0	0	0	1	0	0	0	11002	1580	55	4		4	OR11H1	22	15529105	Missense_Mutation	SNP	T	C3N-01489_TP		15529105	35289363	711	27257											
CECR6	0	.	GRCh38	chr22	17120288	17120288	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccccagcggtagcggcCgagggggcgggcagatgcag	6	4	20	11	4	0	1	0	0	0	1	0	2	0	1	3	6	3	3	3	6	1	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.840G>T	p.=	p.S280S	ENST00000331437	1/1	49	28	21	75	74	1	strelka-varscan-mutect	CECR6,synonymous_variant,p.=,ENST00000331437,NM_031890.3;CECR6,intron_variant,,ENST00000399875,NM_001163079.1;IL17RA,downstream_gene_variant,,ENST00000319363,NM_014339.6;IL17RA,downstream_gene_variant,,ENST00000612619,NM_001289905.1;AC006946.15,upstream_gene_variant,,ENST00000441544,;AC006946.15,upstream_gene_variant,,ENST00000428078,;	A	ENST00000331437	Transcript	synonymous_variant	966/4954	840/1737	280/578	S	tcG/tcT		1		-1	CECR6	HGNC	HGNC:1844	protein_coding	YES	CCDS13740.1	ENSP00000329318	Q9BXQ6		UPI0000127513	NM_031890.3			1/1		Low_complexity_(Seg):seg																	LOW		SNV				1										PASS		rs1353898102	.												A	2	1	81	17120288	17120288	C	A	1	0	0	0	0	0	0	0	1	2915	639	23	1		1	CECR6	22	17120288	Silent	SNP	C	C3N-01489_TP	1591183	17120288	33698180	712	27258											
LRRC74B	0	.	GRCh38	chr22	21046006	21046006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaggggttcctgtgagaGgtctggggaggatgaagagc	9	8	19	5	0	1	4	0	3	1	2	2	7	2	6	1	6	1	1	1	6	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.20G>A	p.Arg7Lys	p.R7K	ENST00000442047	1/9	173	130	43	236	236	0	strelka-varscan-mutect	LRRC74B,missense_variant,p.Arg7Lys,ENST00000442047,NM_001291006.1;AC002472.11,downstream_gene_variant,,ENST00000450652,;P2RX6P,upstream_gene_variant,,ENST00000439119,;LRRC74B,non_coding_transcript_exon_variant,,ENST00000497328,;LRRC74B,non_coding_transcript_exon_variant,,ENST00000473769,;P2RX6P,upstream_gene_variant,,ENST00000450626,;	A	ENST00000442047	Transcript	missense_variant	20/1179	20/1179	7/392	R/K	aGg/aAg		1		1	LRRC74B	HGNC	HGNC:34301	protein_coding	YES	CCDS77654.1	ENSP00000394078	Q6ZQY2		UPI000436DF24	NM_001291006.1	tolerated_low_confidence(0.77)		1/9		hmmpanther:PTHR24114,hmmpanther:PTHR24114:SF21																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	81	21046006	21046006	G	A	1	0	0	0	0	1	0	0	0	8922	1000	35	3		3	LRRC74B	22	21046006	Missense_Mutation	SNP	G	C3N-01489_TP	3925718	21046006	29772462	713	27259											
MYO18B	0	.	GRCh38	chr22	26027105	26027105	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggacatgctgttgtcGcccacactgcgtcctcggag	6	8	12	15	3	0	0	0	0	0	0	3	2	1	2	3	2	2	2	3	2	0	1	rs374454209		C3N-01489_TP	C3N-01489_NB	G	G																c.7131G>C	p.=	p.S2377S	ENST00000335473	43/44	147	134	13	281	281	0	strelka-varscan-mutect	MYO18B,synonymous_variant,p.=,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,synonymous_variant,p.=,ENST00000407587,;MYO18B,synonymous_variant,p.=,ENST00000536101,;MYO18B,synonymous_variant,p.=,ENST00000543971,;MYO18B,synonymous_variant,p.=,ENST00000540454,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	C	ENST00000335473	Transcript	synonymous_variant	7381/8565	7131/7704	2377/2567	S	tcG/tcC	rs374454209,COSM3668590	1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5			43/44													0,1						LOW	1	SNV	1		0,1	1										PASS		rs374454209	.												C	2	2	81	26027105	26027105	G	C	1	0	0	0	0	0	0	0	1	10067	1074	38	4		4	MYO18B	22	26027105	Silent	SNP	G	C3N-01489_TP	4981099	26027105	24791363	714	27260											
KREMEN1	0	.	GRCh38	chr22	29137566	29137566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctagcccgcttccacGggaggagccgcccacctctg	5	7	12	17	3	1	0	0	0	1	0	3	2	3	2	6	2	2	1	6	2	1	2	rs751542642		C3N-01489_TP	C3N-01489_NB	G	G																c.856G>A	p.Gly286Arg	p.G286R	ENST00000327813	6/10	115	107	8	163	163	0	strelka-varscan-mutect	KREMEN1,missense_variant,p.Gly286Arg,ENST00000400335,NM_001039570.2;KREMEN1,missense_variant,p.Gly286Arg,ENST00000327813,NM_032045.4;KREMEN1,missense_variant,p.Gly284Arg,ENST00000407188,;RNU6-810P,downstream_gene_variant,,ENST00000364001,;KREMEN1,upstream_gene_variant,,ENST00000479755,;KREMEN1,3_prime_UTR_variant,,ENST00000453585,;KREMEN1,non_coding_transcript_exon_variant,,ENST00000474001,;	A	ENST00000327813	Transcript	missense_variant	869/2719	856/1479	286/492	G/R	Ggg/Agg	rs751542642,COSM184518,COSM4696734	1		1	KREMEN1	HGNC	HGNC:17550	protein_coding	YES	CCDS13849.1	ENSP00000331242	Q96MU8		UPI000002AD01	NM_032045.4	deleterious(0)		6/10		PROSITE_profiles:PS01180,hmmpanther:PTHR24269:SF13,hmmpanther:PTHR24269,PIRSF_domain:PIRSF036961,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs751542642	.												A	3	1	81	29137566	29137566	G	A	1	0	0	0	0	1	0	0	0	8324	1116	39	1		1	KREMEN1	22	29137566	Missense_Mutation	SNP	G	C3N-01489_TP	3110461	29137566	21680902	715	27261											
HMGXB4	0	.	GRCh38	chr22	35264846	35264846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccacaggaagaaagtcaGtggaagcagtggggaactac	15	4	14	8	0	1	1	1	0	0	1	1	4	1	4	1	4	3	2	1	4	5	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.458G>T	p.Ser153Ile	p.S153I	ENST00000216106	5/11	81	70	11	175	175	0	strelka-varscan-mutect	HMGXB4,missense_variant,p.Ser153Ile,ENST00000216106,NM_001003681.2;HMGXB4,missense_variant,p.Ser44Ile,ENST00000455359,;HMGXB4,missense_variant,p.Ser44Ile,ENST00000420166,;HMGXB4,3_prime_UTR_variant,,ENST00000418170,;HMGXB4,downstream_gene_variant,,ENST00000498325,;HMGXB4,downstream_gene_variant,,ENST00000464480,;	T	ENST00000216106	Transcript	missense_variant	586/4047	458/1806	153/601	S/I	aGt/aTt		1		1	HMGXB4	HGNC	HGNC:5003	protein_coding	YES	CCDS33641.1	ENSP00000216106	Q9UGU5		UPI00003765B4	NM_001003681.2	deleterious_low_confidence(0)		5/11		Low_complexity_(Seg):seg,Pfam_domain:PF13775																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	35264846	35264846	G	T	1	0	0	0	0	1	0	0	0	7132	1029	36	2		2	HMGXB4	22	35264846	Missense_Mutation	SNP	G	C3N-01489_TP	6127280	35264846	15553622	716	27262											
CSF2RB	0	.	GRCh38	chr22	36926158	36926158	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgggcacccggctcacCgtcactctgacccagcatgg	6	7	10	18	2	4	1	2	1	2	0	4	1	4	1	4	3	1	3	4	3	0	0	rs141354922		C3N-01489_TP	C3N-01489_NB	C	C																c.372C>A	p.=	p.T124T	ENST00000403662	4/14	175	128	47	273	273	0	strelka-varscan-mutect	CSF2RB,synonymous_variant,p.=,ENST00000403662,NM_000395.2;CSF2RB,synonymous_variant,p.=,ENST00000262825,;CSF2RB,synonymous_variant,p.=,ENST00000406230,;CSF2RB,synonymous_variant,p.=,ENST00000421539,;	A	ENST00000403662	Transcript	synonymous_variant	594/4863	372/2694	124/897	T	acC/acA	rs141354922	1		1	CSF2RB	HGNC	HGNC:2436	protein_coding	YES	CCDS13936.1	ENSP00000384053	P32927		UPI0000128C9F	NM_000395.2			4/14		hmmpanther:PTHR23037:SF22,hmmpanther:PTHR23037,PIRSF_domain:PIRSF001956,Superfamily_domains:SSF49265																	LOW	1	SNV	5			1										PASS		rs141354922	.												A	2	1	81	36926158	36926158	C	A	1	0	0	0	0	0	0	0	1	3736	639	23	1		1	CSF2RB	22	36926158	Silent	SNP	C	C3N-01489_TP	1661312	36926158	13892310	717	27263											
SCUBE1	0	.	GRCh38	chr22	43223135	43223135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccgggcaggaaaggaagCagctctccacaccgcctgcc	10	3	13	15	2	1	0	0	0	1	0	2	3	1	2	5	3	4	3	5	3	2	0	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1289G>A	p.Cys430Tyr	p.C430Y	ENST00000360835	11/22	40	35	5	63	63	0	strelka-varscan-mutect	SCUBE1,missense_variant,p.Cys430Tyr,ENST00000360835,NM_173050.3;SCUBE1,intron_variant,,ENST00000615096,;	T	ENST00000360835	Transcript	missense_variant	1416/9808	1289/2967	430/988	C/Y	tGc/tAc		1		-1	SCUBE1	HGNC	HGNC:13441	protein_coding	YES	CCDS14048.1	ENSP00000354080	Q8IWY4		UPI000020790F	NM_173050.3	deleterious(0)		11/22		hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	43223135	43223135	C	T	1	0	0	0	0	1	0	0	0	14215	710	25	3		3	SCUBE1	22	43223135	Missense_Mutation	SNP	C	C3N-01489_TP	6296977	43223135	7595333	718	27264											
CHKB	0	.	GRCh38	chr22	50581857	50581857	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctagcaccagggagtcCacgccctgaaaaaggatgga	12	7	11	11	1	1	1	0	1	1	0	2	4	2	4	3	3	1	1	3	3	3	2	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.339G>T	p.=	p.V113V	ENST00000406938	3/11	414	384	30	719	718	1	strelka-varscan-mutect	CHKB,synonymous_variant,p.=,ENST00000406938,NM_005198.4;CPT1B,upstream_gene_variant,,ENST00000395650,NM_004377.3;CPT1B,upstream_gene_variant,,ENST00000405237,NM_001145135.1,NM_001145137.1,NM_152245.2;CPT1B,upstream_gene_variant,,ENST00000312108,NM_152246.2;CPT1B,upstream_gene_variant,,ENST00000360719,;CPT1B,upstream_gene_variant,,ENST00000457250,NM_001145134.1;CPT1B,upstream_gene_variant,,ENST00000417176,;CHKB-AS1,upstream_gene_variant,,ENST00000380711,;CHKB,non_coding_transcript_exon_variant,,ENST00000463053,;CHKB,upstream_gene_variant,,ENST00000471515,;CHKB,upstream_gene_variant,,ENST00000464225,;CHKB-CPT1B,upstream_gene_variant,,ENST00000452668,;CHKB-CPT1B,non_coding_transcript_exon_variant,,ENST00000492556,;CHKB,non_coding_transcript_exon_variant,,ENST00000479003,;CHKB,non_coding_transcript_exon_variant,,ENST00000492582,;CHKB,non_coding_transcript_exon_variant,,ENST00000481673,;CHKB,non_coding_transcript_exon_variant,,ENST00000468532,;CHKB,non_coding_transcript_exon_variant,,ENST00000476289,;CHKB,non_coding_transcript_exon_variant,,ENST00000465842,;CHKB,intron_variant,,ENST00000484266,;CHKB-CPT1B,upstream_gene_variant,,ENST00000453634,;CPT1B,upstream_gene_variant,,ENST00000460853,;CHKB,upstream_gene_variant,,ENST00000489453,;CPT1B,upstream_gene_variant,,ENST00000476790,;CPT1B,upstream_gene_variant,,ENST00000461117,;	A	ENST00000406938	Transcript	synonymous_variant	557/1638	339/1188	113/395	V	gtG/gtT		1		-1	CHKB	HGNC	HGNC:1938	protein_coding	YES	CCDS14099.1	ENSP00000384400	Q9Y259	A0A024R4X4	UPI000012DE4D	NM_005198.4			3/11		hmmpanther:PTHR22603:SF35,hmmpanther:PTHR22603,Gene3D:3.10.450.110,Pfam_domain:PF01633,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	50581857	50581857	C	A	1	0	0	0	0	0	0	0	1	3107	608	21	2		2	CHKB	22	50581857	Silent	SNP	C	C3N-01489_TP	7358722	50581857	236611	719	27265											
MID1	0	.	GRCh38	chrX	10567191	10567191	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggatcctggtcacaaaactgGcagaggaccttctcggcgga	10	7	13	11	2	2	1	1	0	1	1	4	4	3	4	2	6	1	1	2	6	2	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.357C>T	p.=	p.C119C	ENST00000317552	2/10	77	62	15	141	141	0	strelka-varscan-mutect	MID1,synonymous_variant,p.=,ENST00000317552,NM_000381.3,NM_033289.1;MID1,synonymous_variant,p.=,ENST00000453318,NM_001098624.2;MID1,synonymous_variant,p.=,ENST00000380780,;MID1,synonymous_variant,p.=,ENST00000380785,;MID1,synonymous_variant,p.=,ENST00000380779,NM_001193277.1;MID1,synonymous_variant,p.=,ENST00000380787,NM_033290.3;MID1,synonymous_variant,p.=,ENST00000380782,;MID1,synonymous_variant,p.=,ENST00000616003,NM_001193278.1,NM_001193279.1,NM_001193280.1;MID1,synonymous_variant,p.=,ENST00000610939,NM_001193281.1;MID1,synonymous_variant,p.=,ENST00000413894,;MID1,synonymous_variant,p.=,ENST00000423614,;	A	ENST00000317552	Transcript	synonymous_variant	758/6463	357/2004	119/667	C	tgC/tgT		1		-1	MID1	HGNC	HGNC:7095	protein_coding	YES	CCDS14138.1	ENSP00000312678	O15344	A0A024RBV4	UPI000012F0E6	NM_000381.3,NM_033289.1			2/10		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF26,SMART_domains:SM00336																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	81	10567191	10567191	G	A	1	0	0	0	0	0	0	0	1	9536	1195	42	3		3	MID1	23	10567191	Silent	SNP	G	C3N-01489_TP		10567191	145473704	720	27266											
BEND2	0	.	GRCh38	chrX	18171149	18171149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaagacttagtttttgcCaaagtcagtactgaacatgg	12	11	10	8	1	1	2	1	1	0	1	1	2	1	2	1	1	3	3	1	1	5	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.2037G>T	p.Leu679Phe	p.L679F	ENST00000380033	13/14	129	110	19	185	185	0	strelka-varscan-mutect	BEND2,missense_variant,p.Leu679Phe,ENST00000380033,NM_153346.4;BEND2,missense_variant,p.Leu588Phe,ENST00000380030,NM_001184767.1;	A	ENST00000380033	Transcript	missense_variant	2170/4611	2037/2400	679/799	L/F	ttG/ttT		1		-1	BEND2	HGNC	HGNC:28509	protein_coding	YES	CCDS14184.1	ENSP00000369372	Q8NDZ0		UPI000013FE0F	NM_153346.4	deleterious(0.02)		13/14		PROSITE_profiles:PS51457,hmmpanther:PTHR16213:SF35,hmmpanther:PTHR16213																	MODERATE	1	SNV	1			1										PASS		rs1026258780	.												A	3	1	81	18171149	18171149	C	A	1	0	0	0	0	1	0	0	0	1546	593	21	2		2	BEND2	23	18171149	Missense_Mutation	SNP	C	C3N-01489_TP	7603958	18171149	137869746	721	27267											
DMD	0	.	GRCh38	chrX	32438297	32438297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagttcctcattgattaGctcatccatgactccgccat	9	13	5	14	1	3	2	3	2	0	0	6	2	6	2	4	0	1	2	4	0	2	3	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.4015C>A	p.Leu1339Ile	p.L1339I	ENST00000357033	29/79	182	151	31	308	306	2	strelka-varscan-mutect	DMD,missense_variant,p.Leu1339Ile,ENST00000357033,NM_000109.3,NM_004006.2;DMD,missense_variant,p.Leu1335Ile,ENST00000378677,NM_004010.3,NM_004009.3;DMD,missense_variant,p.Leu1339Ile,ENST00000620040,;DMD,missense_variant,p.Leu1335Ile,ENST00000619831,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;	T	ENST00000357033	Transcript	missense_variant	4222/13956	4015/11058	1339/3685	L/I	Cta/Ata		1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2	tolerated(0.65)		29/79		hmmpanther:PTHR11915:SF261,hmmpanther:PTHR11915,PIRSF_domain:PIRSF002341,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	32438297	32438297	G	T	1	0	0	0	0	1	0	0	0	4387	962	34	2		2	DMD	23	32438297	Missense_Mutation	SNP	G	C3N-01489_TP	14267148	32438297	123602598	722	27268											
FAM47B	0	.	GRCh38	chrX	34942890	34942890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcatggactccaagccctGgtactgtgacaaaccgcctt	10	8	10	13	1	0	1	0	1	0	0	1	2	1	2	4	3	3	2	4	3	3	2	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.59G>T	p.Trp20Leu	p.W20L	ENST00000329357	1/1	54	43	11	88	88	0	strelka-varscan-mutect	FAM47B,missense_variant,p.Trp20Leu,ENST00000329357,NM_152631.2;	T	ENST00000329357	Transcript	missense_variant	95/2120	59/1938	20/645	W/L	tGg/tTg		1		1	FAM47B	HGNC	HGNC:26659	protein_coding	YES	CCDS14236.1	ENSP00000328307	Q8NA70		UPI000013F47B	NM_152631.2	deleterious(0.01)		1/1		Pfam_domain:PF14642,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF192																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	81	34942890	34942890	G	T	1	0	0	0	0	1	0	0	0	5448	1357	47	2		2	FAM47B	23	34942890	Missense_Mutation	SNP	G	C3N-01489_TP	2504593	34942890	121098005	723	27269											
CFAP47	0	.	GRCh38	chrX	35956197	35956197	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttactggagggggtatggtgGtaagataatttttctttgcg	8	16	14	3	1	1	1	0	0	1	1	1	2	1	2	0	5	2	2	0	5	4	7			C3N-01489_TP	C3N-01489_NB	G	G																c.1410+1G>A		p.X470_splice	ENST00000297866		49	30	19	79	79	0	strelka-varscan-mutect	CFAP47,splice_donor_variant,,ENST00000378653,NM_001304548.1;CFAP47,splice_donor_variant,,ENST00000297866,NM_152632.3;CFAP47,splice_donor_variant,,ENST00000493930,;	A	ENST00000297866	Transcript	splice_donor_variant	-/3608	1410/2931	470/976			COSM1665905,COSM1665906	1		1	CFAP47	HGNC	HGNC:26708	protein_coding	YES	CCDS14237.2	ENSP00000297866	Q6ZTR5		UPI000022DD27	NM_152632.3				8/15												1,1						HIGH	1	SNV	2		1,1	1										PASS		.	.												A	5	1	81	35956197	35956197	G	A	1	0	0	0	0	0	0	1	0	3022	1275	44	3		3	CFAP47	23	35956197	Splice_Site	SNP	G	C3N-01489_TP	1013307	35956197	120084698	724	27270											
BCOR	0	.	GRCh38	chrX	40062799	40062799	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtggcaatccccgccTggactcctgagggatcaagt	8	9	12	12	1	2	1	2	1	0	0	4	3	4	3	4	3	0	1	4	3	2	0			C3N-01489_TP	C3N-01489_NB	T	T																c.4120A>T	p.Arg1374Trp	p.R1374W	ENST00000378444	9/15	115	83	32	187	187	0	strelka-varscan-mutect	BCOR,missense_variant,p.Arg1340Trp,ENST00000342274,NM_001123383.1;BCOR,missense_variant,p.Arg1374Trp,ENST00000378444,NM_001123385.1;BCOR,missense_variant,p.Arg1322Trp,ENST00000378455,NM_001123384.1;BCOR,missense_variant,p.Arg1340Trp,ENST00000397354,NM_017745.5;BCOR,missense_variant,p.Arg217Trp,ENST00000378463,;BCOR,missense_variant,p.Arg47Trp,ENST00000442018,;BCOR,missense_variant,p.Arg69Trp,ENST00000427012,;BCOR,missense_variant,p.Arg244Trp,ENST00000413905,;BCOR,downstream_gene_variant,,ENST00000406200,;	A	ENST00000378444	Transcript	missense_variant	4349/6358	4120/5268	1374/1755	R/W	Agg/Tgg	COSM4665526,COSM4665527,COSM4665528	1		-1	BCOR	HGNC	HGNC:20893	protein_coding	YES	CCDS48093.1	ENSP00000367705	Q6W2J9		UPI00002318CF	NM_001123385.1	deleterious(0)		9/15		hmmpanther:PTHR24117:SF8,hmmpanther:PTHR24117,Pfam_domain:PF15808											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs1198189611	.												A	3	1	81	40062799	40062799	T	A	1	0	0	0	0	1	0	0	0	1533	1579	55	4		4	BCOR	23	40062799	Missense_Mutation	SNP	T	C3N-01489_TP	4106602	40062799	115978096	725	27271											
MED14	0	.	GRCh38	chrX	40654469	40654469	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaatgtctgcctgctgggTtgtacctgaagccatgtcat	7	12	13	9	0	2	1	1	1	1	0	2	2	2	2	3	2	4	3	3	2	3	2	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.4186A>G	p.Thr1396Ala	p.T1396A	ENST00000324817	30/31	164	128	36	223	223	0	strelka-varscan-mutect	MED14,missense_variant,p.Thr1396Ala,ENST00000324817,NM_004229.3;MED14,missense_variant,p.Thr295Ala,ENST00000433003,;MED14,missense_variant,p.Thr108Ala,ENST00000416199,;MED14,downstream_gene_variant,,ENST00000472736,;	C	ENST00000324817	Transcript	missense_variant	4305/7984	4186/4365	1396/1454	T/A	Acc/Gcc		1		-1	MED14	HGNC	HGNC:2370	protein_coding	YES	CCDS14254.1	ENSP00000323720	O60244		UPI00001414B1	NM_004229.3	deleterious(0.02)		30/31		hmmpanther:PTHR12809																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	40654469	40654469	T	C	1	0	0	0	0	1	0	0	0	9371	1725	60	5		5	MED14	23	40654469	Missense_Mutation	SNP	T	C3N-01489_TP	591670	40654469	115386426	726	27272											
DDX3X	0	.	GRCh38	chrX	41347352	41347352	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgccagagactaccgaCaaagtagcggtgccagcagt	11	7	13	10	2	0	1	0	0	0	1	0	3	0	1	3	2	5	2	3	2	3	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.1810C>T	p.Gln604Ter	p.Q604*	ENST00000399959	16/17	76	57	19	105	105	0	strelka-varscan-mutect	DDX3X,stop_gained,p.Gln604Ter,ENST00000399959,NM_001356.4,NM_001193416.2;DDX3X,stop_gained,p.Gln588Ter,ENST00000457138,NM_001193417.2;DDX3X,stop_gained,p.Gln604Ter,ENST00000629496,;DDX3X,stop_gained,p.Gln604Ter,ENST00000625837,;DDX3X,stop_gained,p.Gln604Ter,ENST00000626301,;DDX3X,stop_gained,p.Gln85Ter,ENST00000611968,;DDX3X,intron_variant,,ENST00000441189,;DDX3X,downstream_gene_variant,,ENST00000631641,;RN7SL15P,upstream_gene_variant,,ENST00000582825,;DDX3X,downstream_gene_variant,,ENST00000542215,;DDX3X,downstream_gene_variant,,ENST00000615313,;DDX3X,downstream_gene_variant,,ENST00000611546,;DDX3X,downstream_gene_variant,,ENST00000622198,;DDX3X,stop_gained,p.Gln604Ter,ENST00000629785,;DDX3X,stop_gained,p.Gln604Ter,ENST00000478993,;DDX3X,stop_gained,p.Gln604Ter,ENST00000630255,;DDX3X,stop_gained,p.Gln604Ter,ENST00000630858,;DDX3X,stop_gained,p.Gln604Ter,ENST00000630370,;DDX3X,stop_gained,p.Gln121Ter,ENST00000616050,;DDX3X,downstream_gene_variant,,ENST00000615742,;	T	ENST00000399959	Transcript	stop_gained	2665/5399	1810/1989	604/662	Q/*	Caa/Taa		1		1	DDX3X	HGNC	HGNC:2745	protein_coding	YES	CCDS43931.1	ENSP00000382840	O00571		UPI000013CB6D	NM_001356.4,NM_001193416.2			16/17		Low_complexity_(Seg):seg,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF332																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	81	41347352	41347352	C	T	1	0	0	0	0	0	1	0	0	4161	479	17	3		3	DDX3X	23	41347352	Nonsense_Mutation	SNP	C	C3N-01489_TP	692883	41347352	114693543	727	27273											
RBM3	0	.	GRCh38	chrX	48575658	48575658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagttgccatgagagccatGaacggagaggtggggcctcc	9	7	15	10	1	1	3	1	2	0	2	2	5	2	3	4	4	3	1	4	4	1	1	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.201G>A	p.Met67Ile	p.M67I	ENST00000376759	3/7	86	63	23	126	126	0	strelka-varscan-mutect	RBM3,missense_variant,p.Met67Ile,ENST00000376759,NM_006743.4;RBM3,missense_variant,p.Met67Ile,ENST00000376755,;RBM3,upstream_gene_variant,,ENST00000354480,;RP11-1148L6.9,upstream_gene_variant,,ENST00000376775,;RP11-1148L6.5,downstream_gene_variant,,ENST00000453810,;RBM3,non_coding_transcript_exon_variant,,ENST00000466764,;RBM3,non_coding_transcript_exon_variant,,ENST00000491240,;RBM3,non_coding_transcript_exon_variant,,ENST00000485213,;RBM3,non_coding_transcript_exon_variant,,ENST00000488216,;RBM3,non_coding_transcript_exon_variant,,ENST00000491236,;RBM3,non_coding_transcript_exon_variant,,ENST00000490127,;RBM3,intron_variant,,ENST00000489344,;RBM3,intron_variant,,ENST00000472897,;	A	ENST00000376759	Transcript	missense_variant	264/2162	201/474	67/157	M/I	atG/atA		1		1	RBM3	HGNC	HGNC:9900	protein_coding	YES	CCDS14301.1	ENSP00000365950	P98179	A0A024QYX3	UPI000013337B	NM_006743.4	deleterious(0.03)		3/7		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	48575658	48575658	G	A	1	0	0	0	0	1	0	0	0	13295	1290	45	3		3	RBM3	23	48575658	Missense_Mutation	SNP	G	C3N-01489_TP	7228306	48575658	107465237	728	27274											
CCNB3	0	.	GRCh38	chrX	50310835	50310835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccagcactgagaaggAgaccatcttcaaggagtctt	13	7	11	10	0	3	2	1	1	2	2	3	6	3	3	2	2	2	1	2	2	3	2	novel		C3N-01489_TP	C3N-01489_NB	A	A																c.2666A>G	p.Glu889Gly	p.E889G	ENST00000376042	6/13	161	125	36	240	240	0	strelka-varscan-mutect	CCNB3,missense_variant,p.Glu889Gly,ENST00000376042,;CCNB3,missense_variant,p.Glu889Gly,ENST00000276014,NM_033031.2;CCNB3,intron_variant,,ENST00000348603,NM_033670.2;CCNB3,intron_variant,,ENST00000376038,;CCNB3,intron_variant,,ENST00000476167,;	G	ENST00000376042	Transcript	missense_variant	2964/4693	2666/4188	889/1395	E/G	gAg/gGg		1		1	CCNB3	HGNC	HGNC:18709	protein_coding	YES	CCDS14331.1	ENSP00000365210	Q8WWL7		UPI000022DC76		tolerated(0.21)		6/13																			MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	81	50310835	50310835	A	G	1	0	0	0	0	1	0	0	0	2613	304	11	5		5	CCNB3	23	50310835	Missense_Mutation	SNP	A	C3N-01489_TP	1735177	50310835	105730060	729	27275											
BMP15	0	.	GRCh38	chrX	50916401	50916401	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actactgtaaaggaacttgtCtccgagtactacgcgatggt	11	11	10	9	3	1	0	0	0	1	0	2	3	1	1	1	2	4	2	1	2	6	5	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.973C>A	p.Leu325Ile	p.L325I	ENST00000252677	2/2	23	19	4	21	21	0	strelka-mutect	BMP15,missense_variant,p.Leu325Ile,ENST00000252677,NM_005448.2;	A	ENST00000252677	Transcript	missense_variant	973/1179	973/1179	325/392	L/I	Ctc/Atc		1		1	BMP15	HGNC	HGNC:1068	protein_coding	YES	CCDS14334.1	ENSP00000252677	O95972		UPI000013CD7C	NM_005448.2	deleterious(0)		2/2		Gene3D:2.10.90.10,Pfam_domain:PF00019,Prints_domain:PR00669,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF22,SMART_domains:SM00204,Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	81	50916401	50916401	C	A	1	0	0	0	0	1	0	0	0	1613	913	32	2		2	BMP15	23	50916401	Missense_Mutation	SNP	C	C3N-01489_TP	605566	50916401	105124494	730	27276											
PCDH11X	0	.	GRCh38	chrX	91835715	91835715	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctagtgtacaagaccggaGatgtgccactgattcgaatt	12	10	11	8	2	0	3	0	1	0	2	1	5	0	3	2	1	3	2	2	1	4	4			C3N-01489_TP	C3N-01489_NB	G	G																c.211G>C	p.Asp71His	p.D71H	ENST00000373094	1/7	213	170	43	342	342	0	strelka-varscan-mutect	PCDH11X,missense_variant,p.Asp71His,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Asp71His,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Asp71His,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Asp71His,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Asp71His,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Asp71His,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Asp71His,ENST00000395337,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000298274,;PCDH11X,non_coding_transcript_exon_variant,,ENST00000361724,;	C	ENST00000373094	Transcript	missense_variant	1056/9179	211/4044	71/1347	D/H	Gat/Cat	COSM3564011,COSM3564012,COSM3564013,COSM384556,COSM384557	1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4	deleterious(0.01)		1/7		Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF25											1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1	1										PASS		.	.												C	3	2	81	91835715	91835715	G	C	1	0	0	0	0	1	0	0	0	11595	942	33	4		4	PCDH11X	23	91835715	Missense_Mutation	SNP	G	C3N-01489_TP	40919314	91835715	64205180	731	27277											
TRMT2B	0	.	GRCh38	chrX	101021270	101021270	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatgtagggttccccaaaCagaagctgatagggagactg	14	7	13	7	0	0	4	0	1	0	3	1	5	1	4	2	2	2	3	2	2	5	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.897G>C	p.=	p.L299L	ENST00000372936	10/14	46	34	12	80	80	0	strelka-varscan-mutect	TRMT2B,synonymous_variant,p.=,ENST00000372936,NM_024917.5;TRMT2B,synonymous_variant,p.=,ENST00000545398,NM_001167972.1;TRMT2B,synonymous_variant,p.=,ENST00000372939,NM_001167971.1;TRMT2B,synonymous_variant,p.=,ENST00000372935,NM_001167970.1;TRMT2B,downstream_gene_variant,,ENST00000478422,;	G	ENST00000372936	Transcript	synonymous_variant	1670/3327	897/1515	299/504	L	ctG/ctC		1		-1	TRMT2B	HGNC	HGNC:25748	protein_coding	YES	CCDS14477.1	ENSP00000362027	Q96GJ1	A0A024RCF5	UPI0000070468	NM_024917.5			10/14		Gene3D:3.40.50.150,PROSITE_profiles:PS51621,PROSITE_profiles:PS51687,hmmpanther:PTHR11061,hmmpanther:PTHR11061:SF26,Superfamily_domains:SSF53335																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	81	101021270	101021270	C	G	1	0	0	0	0	0	0	0	1	17070	465	17	4		4	TRMT2B	23	101021270	Silent	SNP	C	C3N-01489_TP	9185555	101021270	55019625	732	27278											
NXF3	0	.	GRCh38	chrX	103084745	103084745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtccatgtgggcaccaTgcattgctgcatctccatct	8	11	10	12	0	2	1	0	0	2	1	4	2	3	1	3	1	3	4	3	1	0	1	novel		C3N-01489_TP	C3N-01489_NB	T	T																c.167A>G	p.His56Arg	p.H56R	ENST00000395065	2/20	64	47	17	84	84	0	strelka-varscan-mutect	NXF3,missense_variant,p.His56Arg,ENST00000395065,NM_022052.1;NXF3,upstream_gene_variant,,ENST00000427570,;NXF3,upstream_gene_variant,,ENST00000497850,;NXF3,upstream_gene_variant,,ENST00000470724,;NXF3,upstream_gene_variant,,ENST00000460791,;NXF3,upstream_gene_variant,,ENST00000494300,;LL0XNC01-221F2.2,upstream_gene_variant,,ENST00000440243,;	C	ENST00000395065	Transcript	missense_variant	269/1938	167/1596	56/531	H/R	cAt/cGt		1		-1	NXF3	HGNC	HGNC:8073	protein_coding	YES	CCDS14503.1	ENSP00000378504	Q9H4D5		UPI00000015F8	NM_022052.1	tolerated(1)		2/20		hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	103084745	103084745	T	C	1	0	0	0	0	1	0	0	0	10857	1464	51	5		5	NXF3	23	103084745	Missense_Mutation	SNP	T	C3N-01489_TP	2063475	103084745	52956150	733	27279											
RGAG1	0	.	GRCh38	chrX	110452805	110452805	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcacccaagatcctggaGggatgtccatgtcgcccatg	9	8	12	12	1	0	2	0	1	0	1	3	4	2	4	4	2	1	1	4	2	1	0	novel		C3N-01489_TP	C3N-01489_NB	G	G																c.2188G>C	p.Gly730Arg	p.G730R	ENST00000465301	3/4	109	98	11	160	160	0	strelka-varscan-mutect	RGAG1,missense_variant,p.Gly730Arg,ENST00000465301,NM_020769.2;RGAG1,missense_variant,p.Gly730Arg,ENST00000540313,;RGAG1,downstream_gene_variant,,ENST00000520821,;	C	ENST00000465301	Transcript	missense_variant	2434/5426	2188/4167	730/1388	G/R	Ggg/Cgg		1		1	RGAG1	HGNC	HGNC:29245	protein_coding	YES	CCDS14552.1	ENSP00000419786	Q8NET4		UPI000006F841	NM_020769.2	deleterious(0.01)		3/4		Low_complexity_(Seg):seg,hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF48																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	81	110452805	110452805	G	C	1	0	0	0	0	1	0	0	0	13446	1000	35	4		4	RGAG1	23	110452805	Missense_Mutation	SNP	G	C3N-01489_TP	7368060	110452805	45588090	734	27280											
IL13RA1	0	.	GRCh38	chrX	118766538	118766538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttattttcaaggtccaagaGgctaaatgtgagaatccaga	14	12	9	6	0	1	3	1	1	0	3	3	4	3	3	2	2	0	1	2	2	6	5	rs12837646		C3N-01489_TP	C3N-01489_NB	G	G																c.837G>T	p.Glu279Asp	p.E279D	ENST00000371666	7/11	48	37	11	93	93	0	strelka-varscan-mutect	IL13RA1,missense_variant,p.Glu279Asp,ENST00000371666,NM_001560.2;IL13RA1,non_coding_transcript_exon_variant,,ENST00000481868,;RP13-128O4.3,upstream_gene_variant,,ENST00000506969,;	T	ENST00000371666	Transcript	missense_variant	904/4036	837/1284	279/427	E/D	gaG/gaT	rs12837646	1		1	IL13RA1	HGNC	HGNC:5974	protein_coding	YES	CCDS14573.1	ENSP00000360730	P78552		UPI0000000CA3	NM_001560.2	tolerated(0.28)		7/11		PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF89,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs12837646	.												T	3	4	81	118766538	118766538	G	T	1	0	0	0	0	1	0	0	0	7537	991	35	2		2	IL13RA1	23	118766538	Missense_Mutation	SNP	G	C3N-01489_TP	8313733	118766538	37274357	735	27281											
ADGRG4	0	.	GRCh38	chrX	136350117	136350117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtcaccttctacaactgaCcacactctatctgttggtgc	9	13	6	13	0	4	1	1	1	3	0	4	1	4	1	2	1	3	1	2	1	3	4	rs760205099		C3N-01489_TP	C3N-01489_NB	C	C																c.6411C>A	p.Asp2137Glu	p.D2137E	ENST00000394143	6/26	89	66	23	161	161	0	strelka-varscan-mutect	ADGRG4,missense_variant,p.Asp2137Glu,ENST00000394143,NM_153834.3;ADGRG4,missense_variant,p.Asp2137Glu,ENST00000370652,;ADGRG4,missense_variant,p.Asp1932Glu,ENST00000394141,;	A	ENST00000394143	Transcript	missense_variant	6702/9931	6411/9243	2137/3080	D/E	gaC/gaA	rs760205099	1		1	ADGRG4	HGNC	HGNC:18992	protein_coding	YES	CCDS35409.1	ENSP00000377699	Q8IZF6		UPI00004CEC5B	NM_153834.3	deleterious(0)		6/26																			MODERATE	1	SNV	1			1										PASS		rs760205099	.												A	3	1	81	136350117	136350117	C	A	1	0	0	0	0	1	0	0	0	371	506	18	2		2	ADGRG4	23	136350117	Missense_Mutation	SNP	C	C3N-01489_TP	17583579	136350117	19690778	736	27282											
ZIC3	0	.	GRCh38	chrX	137567697	137567697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgccccttcccgggctgcGggaagatctttgcccgttct	4	11	11	15	3	2	1	0	0	2	1	3	2	3	2	4	2	3	2	4	2	1	3			C3N-01489_TP	C3N-01489_NB	G	G																c.1006G>A	p.Gly336Arg	p.G336R	ENST00000287538	1/3	121	107	14	203	202	1	strelka-varscan-mutect	ZIC3,missense_variant,p.Gly336Arg,ENST00000287538,NM_003413.3;ZIC3,missense_variant,p.Gly336Arg,ENST00000370606,;RP1-137H15.2,upstream_gene_variant,,ENST00000442841,;RP1-137H15.2,upstream_gene_variant,,ENST00000456631,;ZIC3,upstream_gene_variant,,ENST00000478471,;	A	ENST00000287538	Transcript	missense_variant	1556/3469	1006/1404	336/467	G/R	Ggg/Agg	COSM4106985,COSM4106986	1		1	ZIC3	HGNC	HGNC:12874	protein_coding	YES	CCDS14663.1	ENSP00000287538	O60481		UPI000013C3DD	NM_003413.3	deleterious(0.02)		1/3		PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF25,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1474420006	.												A	3	1	81	137567697	137567697	G	A	1	0	0	0	0	1	0	0	0	18259	1116	39	1		1	ZIC3	23	137567697	Missense_Mutation	SNP	G	C3N-01489_TP	1217580	137567697	18473198	737	27283											
FGF13	0	.	GRCh38	chrX	138708929	138708929	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacccttaagctgaggctCtgcaaagagaacaatgattt	14	11	8	8	0	1	3	0	2	1	1	1	4	1	3	1	1	4	3	1	1	6	4	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.218-1G>T		p.X73_splice	ENST00000436198		28	23	5	54	54	0	strelka-varscan-mutect	FGF13,splice_acceptor_variant,,ENST00000315930,NM_004114.3;FGF13,splice_acceptor_variant,,ENST00000305414,NM_033642.2;FGF13,splice_acceptor_variant,,ENST00000436198,NM_001139500.1;FGF13,splice_acceptor_variant,,ENST00000626909,NM_001139498.1;FGF13,splice_acceptor_variant,,ENST00000455663,;Z83313.1,splice_acceptor_variant,,ENST00000441825,NM_001139501.1,NM_001139502.1;FGF13,splice_acceptor_variant,,ENST00000448673,;FGF13-AS1,upstream_gene_variant,,ENST00000438238,;FGF13-AS1,upstream_gene_variant,,ENST00000446383,;	A	ENST00000436198	Transcript	splice_acceptor_variant	-/1165	218/768	73/255				1		-1	FGF13	HGNC	HGNC:3670	protein_coding	YES	CCDS55513.1	ENSP00000396198	Q92913		UPI00001484B4	NM_001139500.1				3/6																		HIGH		SNV	2			1										PASS		.	.												A	5	1	81	138708929	138708929	C	A	1	0	0	0	0	0	0	1	0	5706	927	32	2		2	FGF13	23	138708929	Splice_Site	SNP	C	C3N-01489_TP	1141232	138708929	17331966	738	27284											
ZNF185	0	.	GRCh38	chrX	152918987	152918987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctcccctctcttagggcaCcctacaatatcaggcgcagc	8	9	7	17	1	3	0	1	0	2	0	5	0	3	0	3	2	2	2	3	2	4	3	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.436C>T	p.Pro146Ser	p.P146S	ENST00000535861	7/24	74	67	7	111	111	0	strelka-varscan-mutect	ZNF185,missense_variant,p.Pro146Ser,ENST00000535861,NM_001178106.1;ZNF185,missense_variant,p.Pro146Ser,ENST00000539731,NM_001178107.1,NM_001178109.1;ZNF185,missense_variant,p.Pro146Ser,ENST00000449285,NM_001178108.1;ZNF185,missense_variant,p.Pro146Ser,ENST00000370268,NM_007150.3;ZNF185,missense_variant,p.Pro146Ser,ENST00000318504,NM_001178110.1;ZNF185,missense_variant,p.Pro11Ser,ENST00000318529,NM_001178113.1;ZNF185,missense_variant,p.Pro6Ser,ENST00000324823,;ZNF185,missense_variant,p.Pro146Ser,ENST00000370270,;ZNF185,upstream_gene_variant,,ENST00000426821,;ZNF185,upstream_gene_variant,,ENST00000447792,;ZNF185,missense_variant,p.Pro146Ser,ENST00000436731,;	T	ENST00000535861	Transcript	missense_variant	484/4421	436/2166	146/721	P/S	Ccc/Tcc		1		1	ZNF185	HGNC	HGNC:12976	protein_coding	YES	CCDS55529.1	ENSP00000440847	O15231		UPI0001D27F7E	NM_001178106.1	deleterious(0.02)		7/24		hmmpanther:PTHR15468,hmmpanther:PTHR15468:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	81	152918987	152918987	C	T	1	0	0	0	0	1	0	0	0	18332	521	18	3		3	ZNF185	23	152918987	Missense_Mutation	SNP	C	C3N-01489_TP	14210058	152918987	3121908	739	27285											
HAUS7	0	.	GRCh38	chrX	153470562	153470562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtcctgccccgccatgtttCgcgctccgagccgcgccccg	2	7	11	21	8	0	0	0	0	0	0	3	1	2	0	8	0	2	2	8	0	0	1	novel		C3N-01489_TP	C3N-01489_NB	C	C																c.26G>A	p.Arg9Gln	p.R9Q	ENST00000370211	1/10	120	93	27	133	133	0	strelka-varscan-mutect	HAUS7,missense_variant,p.Arg9Gln,ENST00000370211,NM_017518.7;TREX2,5_prime_UTR_variant,,ENST00000330912,;TREX2,5_prime_UTR_variant,,ENST00000338525,;TREX2,5_prime_UTR_variant,,ENST00000334497,;TREX2,5_prime_UTR_variant,,ENST00000370232,;HAUS7,5_prime_UTR_variant,,ENST00000370210,;HAUS7,5_prime_UTR_variant,,ENST00000626181,;HAUS7,non_coding_transcript_exon_variant,,ENST00000490453,;HAUS7,upstream_gene_variant,,ENST00000464993,;HAUS7,upstream_gene_variant,,ENST00000490165,;	T	ENST00000370211	Transcript	missense_variant	70/1363	26/1107	9/368	R/Q	cGa/cAa		1		-1	HAUS7	HGNC	HGNC:32979	protein_coding	YES	CCDS35438.1	ENSP00000359230	Q99871		UPI00000731E0	NM_017518.7	tolerated_low_confidence(0.11)		1/10																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	81	153470562	153470562	C	T	1	0	0	0	0	1	0	0	0	6857	884	31	1		1	HAUS7	23	153470562	Missense_Mutation	SNP	C	C3N-01489_TP	551575	153470562	2570333	740	27286											
IL9R	0	.	GRCh38	chrX	156001454	156001454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagagaacttgccacGgtgtttcatgctgtggctgg	6	12	14	9	1	1	1	1	0	0	1	1	2	1	1	1	3	5	5	1	3	1	2	rs369236927		C3N-01489_TP	C3N-01489_NB	G	G																c.91G>T	p.Gly31Cys	p.G31C	ENST00000369423	2/9	250	223	27	362	362	0	strelka-varscan-mutect	IL9R,missense_variant,p.Gly31Cys,ENST00000369423,NM_176786.1;IL9R,intron_variant,,ENST00000244174,NM_002186.2;IL9R,non_coding_transcript_exon_variant,,ENST00000489233,;IL9R,upstream_gene_variant,,ENST00000494962,;AJ271736.10,upstream_gene_variant,,ENST00000483543,;	T	ENST00000369423	Transcript	missense_variant	129/2032	91/1029	31/342	G/C	Ggt/Tgt	rs369236927,COSM5234022	1		1	IL9R	HGNC	HGNC:6030	protein_coding		CCDS59180.1	ENSP00000358431	Q01113		UPI00001AF535	NM_176786.1	deleterious_low_confidence(0)		2/9													0,1						MODERATE		SNV	1		0,1	1										PASS		rs369236927	.												T	3	4	81	156001454	156001454	G	T	1	0	0	0	0	1	0	0	0	7611	1116	39	1		1	IL9R	23	156001454	Missense_Mutation	SNP	G	C3N-01489_TP	2530892	156001454	39441	741	27287											
HES3	0	.	GRCh38	chr1	6245184	6245184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggcgtgagccagctcCttcggcgcggagatgaggtc	5	7	16	13	5	0	3	0	2	0	1	3	4	1	3	3	4	3	1	3	4	0	1	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.238C>T	p.Leu80Phe	p.L80F	ENST00000377898	4/4	166	145	21	110	110	0	strelka-varscan-mutect	HES3,missense_variant,p.Leu80Phe,ENST00000377898,NM_001024598.3;GPR153,downstream_gene_variant,,ENST00000377893,NM_207370.2;	T	ENST00000377898	Transcript	missense_variant	303/697	238/561	80/186	L/F	Ctt/Ttt		1		1	HES3	HGNC	HGNC:26226	protein_coding	YES	CCDS41238.1	ENSP00000367130	Q5TGS1		UPI000047096C	NM_001024598.3	deleterious(0)		4/4		hmmpanther:PTHR10985:SF5,hmmpanther:PTHR10985																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	82	6245184	6245184	C	T	1	0	0	0	0	1	0	0	0	6951	681	24	3		3	HES3	1	6245184	Missense_Mutation	SNP	C	C3N-01799_TP		6245184	242711238	1	27288											
UBR4	0	.	GRCh38	chr1	19120257	19120257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctaacaggaaacaacgcagGaactggatcagggtttcctt	13	9	10	9	1	2	0	1	0	1	0	3	3	3	3	1	4	4	2	1	4	4	3	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.10233C>G	p.Phe3411Leu	p.F3411L	ENST00000375254	69/106	274	255	19	229	228	1	strelka-varscan-mutect	UBR4,missense_variant,p.Phe3411Leu,ENST00000375254,NM_020765.2;UBR4,downstream_gene_variant,,ENST00000417040,;UBR4,upstream_gene_variant,,ENST00000375218,;UBR4,downstream_gene_variant,,ENST00000425413,;UBR4,downstream_gene_variant,,ENST00000475973,;	C	ENST00000375254	Transcript	missense_variant	10261/15906	10233/15552	3411/5183	F/L	ttC/ttG		1		-1	UBR4	HGNC	HGNC:30313	protein_coding	YES	CCDS189.1	ENSP00000364403	Q5T4S7		UPI000021276F	NM_020765.2	deleterious(0)		69/106		hmmpanther:PTHR21725,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	82	19120257	19120257	G	C	1	0	0	0	0	1	0	0	0	17428	1165	41	4		4	UBR4	1	19120257	Missense_Mutation	SNP	G	C3N-01799_TP	12875073	19120257	229836165	2	27289											
HSPG2	0	.	GRCh38	chr1	21847779	21847779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgcagttcagatccaaggtCtgcccttccaccaccgtggg	8	8	10	15	2	2	1	1	0	1	1	4	1	4	1	5	2	1	2	5	2	1	2			C3N-01799_TP	C3N-01799_NB	C	C																c.7935G>C	p.Gln2645His	p.Q2645H	ENST00000374695	61/97	438	401	37	322	322	0	strelka-varscan-mutect	HSPG2,missense_variant,p.Gln2645His,ENST00000374695,NM_005529.6,NM_001291860.1;HSPG2,non_coding_transcript_exon_variant,,ENST00000453796,;HSPG2,downstream_gene_variant,,ENST00000493940,;	G	ENST00000374695	Transcript	missense_variant	8015/14327	7935/13176	2645/4391	Q/H	caG/caC	COSM3803967,COSM3803968	1		-1	HSPG2	HGNC	HGNC:5273	protein_coding	YES	CCDS30625.1	ENSP00000363827	P98160		UPI0000212778	NM_005529.6,NM_001291860.1	deleterious(0.01)		61/97		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	82	21847779	21847779	C	G	1	0	0	0	0	1	0	0	0	7326	912	32	4		4	HSPG2	1	21847779	Missense_Mutation	SNP	C	C3N-01799_TP	2727522	21847779	227108643	3	27290											
LCE3D	0	.	GRCh38	chr1	152579874	152579874	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtactgggctctttgggggAcacttgggtgagggacactt	6	12	16	7	0	1	1	0	1	1	0	1	3	1	3	0	5	1	2	0	5	1	4	novel		C3N-01799_TP	C3N-01799_NB	A	A																c.63T>C	p.=	p.C21C	ENST00000368787	2/2	451	373	78	285	285	0	strelka-varscan-mutect	LCE3D,synonymous_variant,p.=,ENST00000368787,NM_032563.1;	G	ENST00000368787	Transcript	synonymous_variant	120/613	63/279	21/92	C	tgT/tgC		1		-1	LCE3D	HGNC	HGNC:16615	protein_coding	YES	CCDS1014.1	ENSP00000357776	Q9BYE3		UPI000006EC48	NM_032563.1			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF27,hmmpanther:PTHR23263,Pfam_domain:PF14672																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	82	152579874	152579874	A	G	1	0	0	0	0	0	0	0	1	8577	273	10	5		5	LCE3D	1	152579874	Silent	SNP	A	C3N-01799_TP	130732095	152579874	96376548	4	27291											
SPRED2	0	.	GRCh38	chr2	65344873	65344873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctggtcataaccacagccTtgacacgcacaatatagctg	12	9	7	13	1	2	1	1	1	1	0	2	1	2	1	2	1	3	2	2	1	4	4	novel		C3N-01799_TP	C3N-01799_NB	T	T																c.50A>G	p.Lys17Arg	p.K17R	ENST00000356388	2/6	166	128	38	122	122	0	strelka-varscan-mutect	SPRED2,missense_variant,p.Lys17Arg,ENST00000356388,NM_181784.2;SPRED2,missense_variant,p.Lys14Arg,ENST00000443619,NM_001128210.1;SPRED2,missense_variant,p.Lys32Arg,ENST00000452315,;SPRED2,missense_variant,p.Lys17Arg,ENST00000440972,;SPRED2,upstream_gene_variant,,ENST00000427238,;SPRED2,non_coding_transcript_exon_variant,,ENST00000474228,;SPRED2,upstream_gene_variant,,ENST00000426832,;	C	ENST00000356388	Transcript	missense_variant	240/4097	50/1257	17/418	K/R	aAg/aGg		1		-1	SPRED2	HGNC	HGNC:17722	protein_coding	YES	CCDS33211.1	ENSP00000348753	Q7Z698		UPI000013E7B4	NM_181784.2	tolerated(1)		2/6		PROSITE_profiles:PS50229,hmmpanther:PTHR11202,hmmpanther:PTHR11202:SF11,Pfam_domain:PF00568,Gene3D:2.30.29.30,SMART_domains:SM00461,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	82	65344873	65344873	T	C	1	0	0	0	0	1	0	0	0	15447	1609	56	5		5	SPRED2	2	65344873	Missense_Mutation	SNP	T	C3N-01799_TP		65344873	176848656	5	27292											
IQSEC1	0	.	GRCh38	chr3	12936107	12936107	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggtcccctgcctgcgagagGggcagagggggcgacagctc	6	4	18	13	3	0	2	0	0	0	2	2	4	1	2	3	5	3	2	3	5	0	0	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.909C>A	p.=	p.P303P	ENST00000613206	3/14	215	197	18	134	134	0	strelka-varscan-mutect	IQSEC1,synonymous_variant,p.=,ENST00000273221,NM_014869.6;IQSEC1,synonymous_variant,p.=,ENST00000618604,;IQSEC1,synonymous_variant,p.=,ENST00000613206,NM_001134382.2;IQSEC1,downstream_gene_variant,,ENST00000473088,;	T	ENST00000613206	Transcript	synonymous_variant	1012/3582	909/3345	303/1114	P	ccC/ccA		1		-1	IQSEC1	HGNC	HGNC:29112	protein_coding	YES	CCDS74902.1	ENSP00000480301		A0A087WWK8	UPI00017E10F8	NM_001134382.2			3/14		hmmpanther:PTHR10663:SF63,hmmpanther:PTHR10663																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	82	12936107	12936107	G	T	1	0	0	0	0	0	0	0	1	7723	1219	43	2		2	IQSEC1	3	12936107	Silent	SNP	G	C3N-01799_TP		12936107	185359452	6	27293											
IL17RD	0	.	GRCh38	chr3	57110197	57110197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccagtgtgacttacagttCttttgaagctactgttgagc	8	14	9	10	0	1	3	0	3	1	0	1	3	1	3	2	0	4	3	2	0	3	6	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.425G>C	p.Arg142Thr	p.R142T	ENST00000296318	4/13	197	182	15	138	138	0	strelka-varscan	IL17RD,missense_variant,p.Arg142Thr,ENST00000296318,NM_001318864.1,NM_017563.3;IL17RD,5_prime_UTR_variant,,ENST00000320057,;IL17RD,5_prime_UTR_variant,,ENST00000463523,;IL17RD,5_prime_UTR_variant,,ENST00000467210,;IL17RD,downstream_gene_variant,,ENST00000479825,;IL17RD,non_coding_transcript_exon_variant,,ENST00000469841,;	G	ENST00000296318	Transcript	missense_variant	514/8720	425/2220	142/739	R/T	aGa/aCa		1		-1	IL17RD	HGNC	HGNC:17616	protein_coding	YES	CCDS2880.2	ENSP00000296318	Q8NFM7		UPI0000047CC3	NM_001318864.1,NM_017563.3	tolerated(0.47)		4/13		hmmpanther:PTHR15583:SF14,hmmpanther:PTHR15583,Pfam_domain:PF16742																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	82	57110197	57110197	C	G	1	0	0	0	0	1	0	0	0	7550	927	32	4		4	IL17RD	3	57110197	Missense_Mutation	SNP	C	C3N-01799_TP	44174090	57110197	141185362	7	27294											
ALCAM	0	.	GRCh38	chr3	105524410	105524410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagaaaactacactttgtCtatcagtaatgcaaggatca	15	11	6	9	0	4	1	3	0	1	1	4	2	4	2	0	1	3	2	0	1	6	4	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.296C>G	p.Ser99Cys	p.S99C	ENST00000306107	3/16	336	288	48	271	271	0	strelka-varscan	ALCAM,missense_variant,p.Ser99Cys,ENST00000306107,NM_001627.3,NM_001243281.1;ALCAM,missense_variant,p.Ser99Cys,ENST00000472644,NM_001243280.1;ALCAM,missense_variant,p.Ser48Cys,ENST00000486979,;ALCAM,non_coding_transcript_exon_variant,,ENST00000481337,;ALCAM,non_coding_transcript_exon_variant,,ENST00000470756,;	G	ENST00000306107	Transcript	missense_variant	796/4701	296/1752	99/583	S/C	tCt/tGt		1		1	ALCAM	HGNC	HGNC:400	protein_coding	YES	CCDS33810.1	ENSP00000305988	Q13740		UPI0000209ECA	NM_001627.3,NM_001243281.1	tolerated(0.08)		3/16		Gene3D:2.60.40.10,hmmpanther:PTHR11973,hmmpanther:PTHR11973:SF2,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	82	105524410	105524410	C	G	1	0	0	0	0	1	0	0	0	587	913	32	4		4	ALCAM	3	105524410	Missense_Mutation	SNP	C	C3N-01799_TP	48414213	105524410	92771149	8	27295											
GAB1	0	.	GRCh38	chr4	143337231	143337232	+	Frame_Shift_Ins	INS	-	-	C																															ctccggatggctccgcaagtINScccccccggagaaaaagttg																								rs755581817		C3N-01799_TP	C3N-01799_NB	-	-																c.50dupC	p.Glu18GlyfsTer34	p.E18Gfs*34	ENST00000262995	1/11	163	135	28	121	120	1	sindel-varindel	GAB1,frameshift_variant,p.Glu18GlyfsTer34,ENST00000262995,NM_207123.2;GAB1,frameshift_variant,p.Glu18GlyfsTer34,ENST00000262994,NM_002039.3;GAB1,frameshift_variant,p.Glu18GlyfsTer34,ENST00000514639,;	C	ENST00000262995	Transcript	frameshift_variant	470-471/7981	43-44/2175	15/724	S/SX	tcc/tCcc	rs755581817	1		1	GAB1	HGNC	HGNC:4066	protein_coding	YES	CCDS3760.1	ENSP00000262995	Q13480		UPI0000232A33	NM_207123.2			1/11		PROSITE_profiles:PS50003,hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF18,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	HIGH	1	insertion	1	7		1										PASS		.	.												C	7	5	82	143337231	143337231	-	C	1	0	1	1	0	0	0	0	0	6019	1667	58	0		0	GAB1	4	143337231	Frame_Shift_Ins	INS	-	C3N-01799_TP		143337231	46877324	9	27296											
PCDHA13	0	.	GRCh38	chr5	140882733	140882733	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactcgatttccactagaTggcgcatccgatgcagatat	12	10	9	10	3	0	2	0	0	0	2	3	5	2	2	2	1	2	2	2	1	3	3	novel		C3N-01799_TP	C3N-01799_NB	T	T																c.465T>C	p.=	p.D155D	ENST00000289272	1/4	379	346	33	271	271	0	strelka-varscan-mutect	PCDHA13,synonymous_variant,p.=,ENST00000289272,NM_018904.2;PCDHA13,synonymous_variant,p.=,ENST00000409494,;PCDHA13,synonymous_variant,p.=,ENST00000617769,NM_031865.1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA11,intron_variant,,ENST00000398640,NM_018902.4;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA12,intron_variant,,ENST00000398631,NM_018903.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA11,intron_variant,,ENST00000617408,;PCDHA12,downstream_gene_variant,,ENST00000613593,NM_031864.2;AC005609.17,upstream_gene_variant,,ENST00000625195,;	C	ENST00000289272	Transcript	synonymous_variant	465/5260	465/2853	155/950	D	gaT/gaC		1		1	PCDHA13	HGNC	HGNC:8667	protein_coding	YES	CCDS4240.1	ENSP00000289272	Q9Y5I0		UPI00001273D6	NM_018904.2			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	82	140882733	140882733	T	C	1	0	0	0	0	0	0	0	1	11610	1461	51	5		5	PCDHA13	5	140882733	Silent	SNP	T	C3N-01799_TP		140882733	40655526	10	27297											
DST	0	.	GRCh38	chr6	56614401	56614401	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagccttctctgcatctttCaatgtcttgctgatatttga	7	17	6	11	0	4	2	1	2	3	0	5	2	4	2	2	0	3	2	2	0	2	5	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.4500G>C	p.Leu1500Phe	p.L1500F	ENST00000312431	34/95	205	189	16	165	165	0	strelka-varscan-mutect	DST,missense_variant,p.Leu1460Phe,ENST00000361203,;DST,missense_variant,p.Leu1460Phe,ENST00000421834,NM_183380.3;DST,missense_variant,p.Leu1500Phe,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,missense_variant,p.Leu1460Phe,ENST00000370788,;DST,missense_variant,p.Leu1134Phe,ENST00000244364,NM_015548.4;DST,missense_variant,p.Leu1134Phe,ENST00000439203,;DST,downstream_gene_variant,,ENST00000370765,NM_001723.5;DST,downstream_gene_variant,,ENST00000520645,;DST,downstream_gene_variant,,ENST00000522360,;	G	ENST00000312431	Transcript	missense_variant	4626/17756	4500/16614	1500/5537	L/F	ttG/ttC		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1	tolerated(0.08)		34/95		hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	82	56614401	56614401	C	G	1	0	0	0	0	1	0	0	0	4604	825	29	4		4	DST	6	56614401	Missense_Mutation	SNP	C	C3N-01799_TP		56614401	114191578	11	27298											
SESN1	0	.	GRCh38	chr6	108998527	108998527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttacagaaacattttctgCtgagttgaccggcatctcat	11	13	7	10	1	2	3	1	2	2	1	3	3	2	3	1	1	3	3	1	1	2	4	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.958G>T	p.Ala320Ser	p.A320S	ENST00000436639	5/10	169	148	21	156	155	1	strelka-varscan-mutect	SESN1,missense_variant,p.Ala320Ser,ENST00000436639,NM_014454.2;SESN1,missense_variant,p.Ala195Ser,ENST00000302071,NM_001199934.1;SESN1,missense_variant,p.Ala261Ser,ENST00000356644,NM_001199933.1;RP11-787I22.3,non_coding_transcript_exon_variant,,ENST00000605885,;SESN1,non_coding_transcript_exon_variant,,ENST00000368971,;SESN1,downstream_gene_variant,,ENST00000523632,;	A	ENST00000436639	Transcript	missense_variant	1704/3509	958/1656	320/551	A/S	Gca/Tca		1		-1	SESN1	HGNC	HGNC:21595	protein_coding	YES	CCDS5070.1	ENSP00000393762	Q9Y6P5		UPI000002B36B	NM_014454.2	tolerated(0.82)		5/10		hmmpanther:PTHR12474,hmmpanther:PTHR12474:SF3,Pfam_domain:PF04636																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	82	108998527	108998527	C	A	1	0	0	0	0	1	0	0	0	14401	797	28	2		2	SESN1	6	108998527	Missense_Mutation	SNP	C	C3N-01799_TP	52384126	108998527	61807452	12	27299											
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcacagattttgggcTggccaaactgctgggtgcgg	9	9	14	9	1	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	2	2	rs121434568		C3N-01799_TP	C3N-01799_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	608	518	90	376	376	0	strelka-varscan-mutect	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		rs121434568	.												G	3	3	82	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3N-01799_TP		55191822	104154151	13	27300											
PCLO	0	.	GRCh38	chr7	82951018	82951018	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcccaccacttcaggaaaCacttcggatgctgtggttaa	10	11	8	12	1	2	0	1	0	1	0	4	2	2	2	2	3	2	2	2	3	2	3	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.9570G>T	p.=	p.V3190V	ENST00000333891	6/25	478	434	44	333	333	0	strelka-varscan-mutect	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	A	ENST00000333891	Transcript	synonymous_variant	9908/20329	9570/15429	3190/5142	V	gtG/gtT		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5			6/25		hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	82	82951018	82951018	C	A	1	0	0	0	0	0	0	0	1	11671	465	17	2		2	PCLO	7	82951018	Silent	SNP	C	C3N-01799_TP	27759196	82951018	76394955	14	27301											
PPP1R9A	0	.	GRCh38	chr7	95120748	95120748	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tataagtattattggaatggGtgttggagcagatgctggac	11	13	14	3	0	0	1	0	0	0	1	0	4	0	4	0	4	2	4	0	4	5	6	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.1565G>T	p.Gly522Val	p.G522V	ENST00000433360	4/20	217	183	34	182	182	0	strelka-varscan-mutect	PPP1R9A,missense_variant,p.Gly522Val,ENST00000456331,NM_001166162.1;PPP1R9A,missense_variant,p.Gly522Val,ENST00000433881,;PPP1R9A,missense_variant,p.Gly522Val,ENST00000340694,NM_017650.2,NM_001166163.1;PPP1R9A,missense_variant,p.Gly522Val,ENST00000433360,NM_001166160.1;PPP1R9A,missense_variant,p.Gly522Val,ENST00000424654,;PPP1R9A,missense_variant,p.Gly522Val,ENST00000289495,NM_001166161.1;AC002429.5,intron_variant,,ENST00000637269,;AC002429.5,intron_variant,,ENST00000637876,;	T	ENST00000433360	Transcript	missense_variant	1847/5369	1565/4125	522/1374	G/V	gGt/gTt		1		1	PPP1R9A	HGNC	HGNC:14946	protein_coding	YES	CCDS55127.1	ENSP00000405514	Q9ULJ8		UPI000198CF27	NM_001166160.1	deleterious(0)		4/20		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR16154,hmmpanther:PTHR16154:SF22,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	82	95120748	95120748	G	T	1	0	0	0	0	1	0	0	0	12501	1261	44	2		2	PPP1R9A	7	95120748	Missense_Mutation	SNP	G	C3N-01799_TP	12169730	95120748	64225225	15	27302											
KRBA1	0	.	GRCh38	chr7	149723826	149723826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccaggacaggcatcccagtCcctcaggagtggggaaccga	10	4	13	14	1	1	0	1	0	0	0	3	4	3	3	4	5	1	1	4	5	1	0	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.967C>G	p.Pro323Ala	p.P323A	ENST00000496259	8/17	280	248	32	163	163	0	strelka-varscan-mutect	KRBA1,missense_variant,p.Pro289Ala,ENST00000319551,NM_032534.3;KRBA1,missense_variant,p.Pro323Ala,ENST00000496259,NM_001290187.1;KRBA1,missense_variant,p.Pro289Ala,ENST00000485033,;KRBA1,downstream_gene_variant,,ENST00000467333,;KRBA1,downstream_gene_variant,,ENST00000486744,;KRBA1,downstream_gene_variant,,ENST00000497895,;KRBA1,missense_variant,p.Pro246Ala,ENST00000621069,;KRBA1,non_coding_transcript_exon_variant,,ENST00000496080,;	G	ENST00000496259	Transcript	missense_variant	1011/3763	967/3195	323/1064	P/A	Ccc/Gcc		1		1	KRBA1	HGNC	HGNC:22228	protein_coding	YES	CCDS78285.1	ENSP00000418647		A0A0C4DH65	UPI0003F48BD7	NM_001290187.1	tolerated(0.13)		8/17		hmmpanther:PTHR22740,SMART_domains:SM01258																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	82	149723826	149723826	C	G	1	0	0	0	0	1	0	0	0	8319	855	30	4		4	KRBA1	7	149723826	Missense_Mutation	SNP	C	C3N-01799_TP	54603078	149723826	9622147	16	27303											
WWP1	0	.	GRCh38	chr8	86448253	86448253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttggaatctattgatactGaattttataactcccttatc	12	18	4	7	0	1	2	0	2	1	0	3	3	2	3	1	1	2	0	1	1	7	8	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.2104G>A	p.Glu702Lys	p.E702K	ENST00000517970	19/25	333	124	209	115	115	0	strelka-varscan-mutect	WWP1,missense_variant,p.Glu702Lys,ENST00000517970,NM_007013.3;WWP1,missense_variant,p.Glu702Lys,ENST00000265428,;WWP1,missense_variant,p.Glu203Lys,ENST00000520453,;WWP1,non_coding_transcript_exon_variant,,ENST00000518683,;WWP1,non_coding_transcript_exon_variant,,ENST00000524036,;WWP1,non_coding_transcript_exon_variant,,ENST00000521997,;	A	ENST00000517970	Transcript	missense_variant	2411/4686	2104/2769	702/922	E/K	Gaa/Aaa		1		1	WWP1	HGNC	HGNC:17004	protein_coding	YES	CCDS6242.1	ENSP00000427793	Q9H0M0		UPI0000035537	NM_007013.3	deleterious(0)		19/25		PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF299,Pfam_domain:PF00632,Gene3D:1c4zA02,PIRSF_domain:PIRSF001569,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	82	86448253	86448253	G	A	1	0	0	0	0	1	0	0	0	17973	1291	45	3		3	WWP1	8	86448253	Missense_Mutation	SNP	G	C3N-01799_TP		86448253	58690383	17	27304			1	20		5	4	248	N	G	1.326e-11
WWP1	0	.	GRCh38	chr8	86448275	86448275	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttataactcccttatctGgataaggtttgaagattttg	11	18	7	5	0	1	2	0	1	1	1	2	3	2	3	1	2	1	1	1	2	5	8	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.2126G>A	p.Trp709Ter	p.W709*	ENST00000517970	19/25	296	110	186	106	106	0	strelka-varscan-mutect	WWP1,stop_gained,p.Trp709Ter,ENST00000517970,NM_007013.3;WWP1,stop_gained,p.Trp709Ter,ENST00000265428,;WWP1,stop_gained,p.Trp210Ter,ENST00000520453,;WWP1,non_coding_transcript_exon_variant,,ENST00000518683,;WWP1,non_coding_transcript_exon_variant,,ENST00000524036,;WWP1,non_coding_transcript_exon_variant,,ENST00000521997,;	A	ENST00000517970	Transcript	stop_gained	2433/4686	2126/2769	709/922	W/*	tGg/tAg		1		1	WWP1	HGNC	HGNC:17004	protein_coding	YES	CCDS6242.1	ENSP00000427793	Q9H0M0		UPI0000035537	NM_007013.3			19/25		PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF299,Pfam_domain:PF00632,Gene3D:1c4zA02,PIRSF_domain:PIRSF001569,SMART_domains:SM00119,Superfamily_domains:SSF56204																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	82	86448275	86448275	G	A	1	0	0	0	0	0	1	0	0	17973	1357	47	3		3	WWP1	8	86448275	Nonsense_Mutation	SNP	G	C3N-01799_TP	22	86448275	58690361	18	27305			1	20		5	4	248	N	G	1.326e-11
WWP1	0	.	GRCh38	chr8	86448424	86448424	+	Missense_Mutation	SNP	G	G	A																															atgtacttttctgttgacatGgagattttgggaaaagttac																								novel		C3N-01799_TP	C3N-01799_NB	G	G																c.2184G>A	p.Met728Ile	p.M728I	ENST00000517970	20/25	463	196	267	188	188	0	strelka-varscan-mutect	WWP1,missense_variant,p.Met728Ile,ENST00000517970,NM_007013.3;WWP1,missense_variant,p.Met728Ile,ENST00000265428,;WWP1,missense_variant,p.Met229Ile,ENST00000520453,;WWP1,non_coding_transcript_exon_variant,,ENST00000518683,;WWP1,non_coding_transcript_exon_variant,,ENST00000524036,;WWP1,non_coding_transcript_exon_variant,,ENST00000521997,;	A	ENST00000517970	Transcript	missense_variant	2491/4686	2184/2769	728/922	M/I	atG/atA		1		1	WWP1	HGNC	HGNC:17004	protein_coding	YES	CCDS6242.1	ENSP00000427793	Q9H0M0		UPI0000035537	NM_007013.3	tolerated(0.11)		20/25		PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF299,Pfam_domain:PF00632,Gene3D:1c4zA02,PIRSF_domain:PIRSF001569,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	82	86448424	86448424	G	A	1	0	0	0	0	1	0	0	0	17973	1348	47	3		3	WWP1	8	86448424	Missense_Mutation	SNP	G	C3N-01799_TP	149	86448424	58690212	19	27306	577	2	1	20		5	4	248	N	G	1.326e-11
WWP1	0	.	GRCh38	chr8	86448427	86448427	+	Silent	SNP	G	G	A																															tacttttctgttgacatggaGattttgggaaaagttacttc																								novel		C3N-01799_TP	C3N-01799_NB	G	G																c.2187G>A	p.=	p.E729E	ENST00000517970	20/25	476	196	280	197	197	0	strelka-varscan-mutect	WWP1,synonymous_variant,p.=,ENST00000517970,NM_007013.3;WWP1,synonymous_variant,p.=,ENST00000265428,;WWP1,synonymous_variant,p.=,ENST00000520453,;WWP1,non_coding_transcript_exon_variant,,ENST00000518683,;WWP1,non_coding_transcript_exon_variant,,ENST00000524036,;WWP1,non_coding_transcript_exon_variant,,ENST00000521997,;	A	ENST00000517970	Transcript	synonymous_variant	2494/4686	2187/2769	729/922	E	gaG/gaA		1		1	WWP1	HGNC	HGNC:17004	protein_coding	YES	CCDS6242.1	ENSP00000427793	Q9H0M0		UPI0000035537	NM_007013.3			20/25		PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF299,Pfam_domain:PF00632,Gene3D:1c4zA02,PIRSF_domain:PIRSF001569,SMART_domains:SM00119,Superfamily_domains:SSF56204																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	82	86448427	86448427	G	A	1	0	0	0	0	0	0	0	1	17973	933	33	3		3	WWP1	8	86448427	Silent	SNP	G	C3N-01799_TP	3	86448427	58690209	20	27307	577	2	1	20		5	4	248	N	G	1.326e-11
WWP1	0	.	GRCh38	chr8	86448500	86448500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgactgaggagaacaaaGatgaatatattgggtaaggt	15	10	14	2	0	0	5	0	3	0	2	0	6	0	5	0	4	1	1	0	4	6	4	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.2260G>A	p.Asp754Asn	p.D754N	ENST00000517970	20/25	299	109	190	117	117	0	strelka-varscan-mutect	WWP1,missense_variant,p.Asp754Asn,ENST00000517970,NM_007013.3;WWP1,missense_variant,p.Asp754Asn,ENST00000265428,;WWP1,downstream_gene_variant,,ENST00000520453,;WWP1,non_coding_transcript_exon_variant,,ENST00000524036,;WWP1,non_coding_transcript_exon_variant,,ENST00000521997,;WWP1,downstream_gene_variant,,ENST00000518683,;	A	ENST00000517970	Transcript	missense_variant	2567/4686	2260/2769	754/922	D/N	Gat/Aat		1		1	WWP1	HGNC	HGNC:17004	protein_coding	YES	CCDS6242.1	ENSP00000427793	Q9H0M0		UPI0000035537	NM_007013.3	deleterious(0)		20/25		PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF299,Pfam_domain:PF00632,Gene3D:1c4zA02,PIRSF_domain:PIRSF001569,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	82	86448500	86448500	G	A	1	0	0	0	0	1	0	0	0	17973	942	33	3		3	WWP1	8	86448500	Missense_Mutation	SNP	G	C3N-01799_TP	73	86448500	58690136	21	27308			1	20		5	4	248	N	G	1.326e-11
PLEKHF2	0	.	GRCh38	chr8	95154791	95154791	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgatgatgatagcagtgaCtaaggacacatttgggagta	14	9	13	5	1	0	3	0	3	0	0	0	7	0	5	0	2	1	2	0	2	3	4	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.747C>G	p.Asp249Glu	p.D249E	ENST00000315367	2/2	77	67	10	111	111	0	strelka-varscan-mutect	PLEKHF2,missense_variant,p.Asp249Glu,ENST00000315367,NM_024613.3;PLEKHF2,missense_variant,p.Asp249Glu,ENST00000519516,;	G	ENST00000315367	Transcript	missense_variant	988/2881	747/750	249/249	D/E	gaC/gaG		1		1	PLEKHF2	HGNC	HGNC:20757	protein_coding	YES	CCDS6267.1	ENSP00000322373	Q9H8W4		UPI0000035DB0	NM_024613.3	tolerated(0.17)		2/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	82	95154791	95154791	C	G	1	0	0	0	0	1	0	0	0	12160	564	20	4		4	PLEKHF2	8	95154791	Missense_Mutation	SNP	C	C3N-01799_TP	8706291	95154791	49983845	22	27309											
MUSK	0	.	GRCh38	chr9	110767883	110767883	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggaggtgtgtaatgcagtCctggcaaaagatgctcttgt	9	11	15	6	0	1	1	0	0	1	1	2	2	2	2	1	4	2	4	1	4	3	2	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.984C>T	p.=	p.V328V	ENST00000374448	9/15	398	357	41	274	274	0	strelka-varscan-mutect	MUSK,synonymous_variant,p.=,ENST00000416899,;MUSK,synonymous_variant,p.=,ENST00000374448,NM_005592.3;MUSK,intron_variant,,ENST00000189978,NM_001166281.1,NM_001166280.1;MUSK,intron_variant,,ENST00000374440,;MUSK,non_coding_transcript_exon_variant,,ENST00000634612,;	T	ENST00000374448	Transcript	synonymous_variant	1118/2754	984/2610	328/869	V	gtC/gtT		1		1	MUSK	HGNC	HGNC:7525	protein_coding	YES	CCDS48005.1	ENSP00000363571	O15146		UPI000006D2F7	NM_005592.3			9/15		Gene3D:1ijyA00,Pfam_domain:PF01392,PROSITE_profiles:PS50038																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	82	110767883	110767883	C	T	1	0	0	0	0	0	0	0	1	9987	842	30	3		3	MUSK	9	110767883	Silent	SNP	C	C3N-01799_TP		110767883	27626834	23	27310			2	21		3	3	186	C		5.202642e-08
MUSK	0	.	GRCh38	chr9	110767910	110767910	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagatgctcttgtttttctCaacacctcctatgcggaccc	9	13	6	13	1	2	1	1	0	2	1	4	2	3	2	3	1	3	2	3	1	3	4	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.1011C>T	p.=	p.L337L	ENST00000374448	9/15	496	441	55	322	322	0	strelka-varscan-mutect	MUSK,synonymous_variant,p.=,ENST00000416899,;MUSK,synonymous_variant,p.=,ENST00000374448,NM_005592.3;MUSK,intron_variant,,ENST00000189978,NM_001166281.1,NM_001166280.1;MUSK,intron_variant,,ENST00000374440,;MUSK,non_coding_transcript_exon_variant,,ENST00000634612,;	T	ENST00000374448	Transcript	synonymous_variant	1145/2754	1011/2610	337/869	L	ctC/ctT		1		1	MUSK	HGNC	HGNC:7525	protein_coding	YES	CCDS48005.1	ENSP00000363571	O15146		UPI000006D2F7	NM_005592.3			9/15		Gene3D:1ijyA00,Pfam_domain:PF01392,PROSITE_profiles:PS50038																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	82	110767910	110767910	C	T	1	0	0	0	0	0	0	0	1	9987	813	29	3		3	MUSK	9	110767910	Silent	SNP	C	C3N-01799_TP	27	110767910	27626807	24	27311			2	21		3	3	186	C		5.202642e-08
MUSK	0	.	GRCh38	chr9	110768068	110768068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagtagtgcctactcCtattcccatttgcaggtaaa	9	13	8	11	0	0	0	0	0	0	0	3	1	3	1	4	2	3	3	4	2	5	6	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.1169C>T	p.Pro390Leu	p.P390L	ENST00000374448	9/15	118	99	19	110	110	0	strelka-varscan-mutect	MUSK,missense_variant,p.Pro390Leu,ENST00000416899,;MUSK,missense_variant,p.Pro390Leu,ENST00000374448,NM_005592.3;MUSK,intron_variant,,ENST00000189978,NM_001166281.1,NM_001166280.1;MUSK,intron_variant,,ENST00000374440,;MUSK,downstream_gene_variant,,ENST00000634612,;	T	ENST00000374448	Transcript	missense_variant	1303/2754	1169/2610	390/869	P/L	cCt/cTt		1		1	MUSK	HGNC	HGNC:7525	protein_coding	YES	CCDS48005.1	ENSP00000363571	O15146		UPI000006D2F7	NM_005592.3	deleterious(0.01)		9/15		Gene3D:1ijyA00,Pfam_domain:PF01392,PROSITE_profiles:PS50038,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF317																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	82	110768068	110768068	C	T	1	0	0	0	0	1	0	0	0	9987	681	24	3		3	MUSK	9	110768068	Missense_Mutation	SNP	C	C3N-01799_TP	158	110768068	27626649	25	27312			2	21		3	3	186	C		5.202642e-08
USP20	0	.	GRCh38	chr9	129868389	129868389	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgccatggctgcccttgacGaccagcccgcggaggcccag	6	5	13	17	3	0	1	0	1	0	0	0	3	0	2	5	3	3	1	5	3	0	1	rs201379007		C3N-01799_TP	C3N-01799_NB	G	G																c.1075G>C	p.Asp359His	p.D359H	ENST00000315480	11/25	168	155	13	108	106	2	varscan-mutect	USP20,missense_variant,p.Asp359His,ENST00000315480,;USP20,missense_variant,p.Asp359His,ENST00000358355,NM_001008563.4;USP20,missense_variant,p.Asp359His,ENST00000372429,NM_001110303.3,NM_006676.7;MIR6855,upstream_gene_variant,,ENST00000622178,;USP20,non_coding_transcript_exon_variant,,ENST00000474895,;USP20,non_coding_transcript_exon_variant,,ENST00000491731,;	C	ENST00000315480	Transcript	missense_variant	1233/4458	1075/2745	359/914	D/H	Gac/Cac	rs201379007,COSM5460377,COSM5460378,COSM5460379	1		1	USP20	HGNC	HGNC:12619	protein_coding	YES	CCDS43892.1	ENSP00000313811	Q9Y2K6		UPI000013D050		tolerated(0.14)		11/25		PROSITE_profiles:PS50235,Pfam_domain:PF00443											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs201379007	.												C	3	2	82	129868389	129868389	G	C	1	0	0	0	0	1	0	0	0	17593	1058	37	4		4	USP20	9	129868389	Missense_Mutation	SNP	G	C3N-01799_TP	19100321	129868389	8526328	26	27313											
DRD4	0	.	GRCh38	chr11	640458	640458	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatcacgcaggcgctgtGtcctgcctgctccgtgcccc	4	8	11	18	3	1	0	1	0	0	0	3	0	3	0	5	1	3	4	5	1	0	0	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.1115G>C	p.Cys372Ser	p.C372S	ENST00000176183	4/4	289	258	31	209	209	0	strelka-varscan-mutect	DRD4,missense_variant,p.Cys372Ser,ENST00000176183,NM_000797.3;DEAF1,downstream_gene_variant,,ENST00000382409,NM_021008.3;DEAF1,downstream_gene_variant,,ENST00000527658,;DRD4,downstream_gene_variant,,ENST00000528733,;DEAF1,downstream_gene_variant,,ENST00000527170,;	C	ENST00000176183	Transcript	missense_variant	1127/1375	1115/1260	372/419	C/S	tGt/tCt		1		1	DRD4	HGNC	HGNC:3025	protein_coding	YES	CCDS7710.1	ENSP00000176183	P21917		UPI000011F17B	NM_000797.3	deleterious(0)		4/4		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF37,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	82	640458	640458	G	C	1	0	0	0	0	1	0	0	0	4578	1377	48	4		4	DRD4	11	640458	Missense_Mutation	SNP	G	C3N-01799_TP		640458	134446164	27	27314											
SPON1	0	.	GRCh38	chr11	14257895	14257895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggccctggctgcagtgacGaaggtgaggagacaacccag	10	5	16	10	1	0	3	0	2	0	1	0	5	0	3	2	4	2	2	2	4	2	0	rs782473008		C3N-01799_TP	C3N-01799_NB	G	G																c.1489G>A	p.Glu497Lys	p.E497K	ENST00000576479	11/16	59	55	4	49	49	0	strelka-mutect	SPON1,missense_variant,p.Glu497Lys,ENST00000576479,NM_006108.3;RP11-21L19.1,downstream_gene_variant,,ENST00000534587,;SPON1,upstream_gene_variant,,ENST00000591785,;	A	ENST00000576479	Transcript	missense_variant	1705/4837	1489/2424	497/807	E/K	Gaa/Aaa	rs782473008,COSM4831106	1		1	SPON1	HGNC	HGNC:11252	protein_coding	YES	CCDS73262.1	ENSP00000460236	Q9HCB6		UPI000044404A	NM_006108.3	tolerated(0.25)		11/16		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF18											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs782473008	.												A	3	1	82	14257895	14257895	G	A	1	0	0	0	0	1	0	0	0	15435	1072	37	1		1	SPON1	11	14257895	Missense_Mutation	SNP	G	C3N-01799_TP	13617437	14257895	120828727	28	27315											
NAV2	0	.	GRCh38	chr11	19884346	19884346	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatccgcttcactctgggtCagaaaaagatctctaggtta	11	12	8	10	1	5	2	3	0	2	2	7	2	6	2	1	2	0	2	1	2	4	3	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.823C>G	p.Gln275Glu	p.Q275E	ENST00000396087	6/41	272	253	19	153	153	0	strelka-varscan-mutect	NAV2,missense_variant,p.Gln275Glu,ENST00000527559,;NAV2,missense_variant,p.Gln275Glu,ENST00000396087,NM_001244963.1;NAV2,intron_variant,,ENST00000540292,;NAV2,intron_variant,,ENST00000396085,NM_182964.5;NAV2,intron_variant,,ENST00000349880,NM_145117.4;NAV2,intron_variant,,ENST00000360655,NM_001111018.1;NAV2,downstream_gene_variant,,ENST00000534229,;	G	ENST00000396087	Transcript	missense_variant	922/7882	823/7467	275/2488	Q/E	Cag/Gag		1		1	NAV2	HGNC	HGNC:15997	protein_coding	YES	CCDS58126.1	ENSP00000379396	Q8IVL1		UPI00001E0580	NM_001244963.1	deleterious(0.03)		6/41																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	82	19884346	19884346	C	G	1	0	0	0	0	1	0	0	0	10193	827	29	4		4	NAV2	11	19884346	Missense_Mutation	SNP	C	C3N-01799_TP	5626451	19884346	115202276	29	27316											
LRRC32	0	.	GRCh38	chr11	76661164	76661164	+	Silent	SNP	C	C	G																															ctgggtgcctcccccagcagCcgctccagcaggccgctgta																								novel		C3N-01799_TP	C3N-01799_NB	C	C																c.429G>C	p.=	p.R143R	ENST00000407242	3/3	73	67	6	79	79	0	varscan-mutect	LRRC32,synonymous_variant,p.=,ENST00000407242,NM_005512.2;LRRC32,synonymous_variant,p.=,ENST00000260061,NM_001128922.1;LRRC32,synonymous_variant,p.=,ENST00000404995,;LRRC32,synonymous_variant,p.=,ENST00000421973,;RP11-672A2.4,upstream_gene_variant,,ENST00000531511,;AP001189.4,intron_variant,,ENST00000447519,;LRRC32,intron_variant,,ENST00000464145,;	G	ENST00000407242	Transcript	synonymous_variant	672/4311	429/1989	143/662	R	cgG/cgC		1		-1	LRRC32	HGNC	HGNC:4161	protein_coding	YES	CCDS8245.1	ENSP00000384126	Q14392	A0A024R5J7	UPI000012B0DF	NM_005512.2			3/3		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF337,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	82	76661164	76661164	C	G	1	0	0	0	0	0	0	0	1	8882	726	26	4		4	LRRC32	11	76661164	Silent	SNP	C	C3N-01799_TP	56776818	76661164	58425458	30	27317	578	2									
LRRC32	0	.	GRCh38	chr11	76661168	76661168	+	Missense_Mutation	SNP	T	T	C																															gtgcctcccccagcagccgcTccagcaggccgctgtacagg																								novel		C3N-01799_TP	C3N-01799_NB	T	T																c.425A>G	p.Glu142Gly	p.E142G	ENST00000407242	3/3	70	65	5	69	69	0	varscan-mutect	LRRC32,missense_variant,p.Glu142Gly,ENST00000407242,NM_005512.2;LRRC32,missense_variant,p.Glu142Gly,ENST00000260061,NM_001128922.1;LRRC32,missense_variant,p.Glu142Gly,ENST00000404995,;LRRC32,missense_variant,p.Glu142Gly,ENST00000421973,;RP11-672A2.4,upstream_gene_variant,,ENST00000531511,;AP001189.4,intron_variant,,ENST00000447519,;LRRC32,intron_variant,,ENST00000464145,;	C	ENST00000407242	Transcript	missense_variant	668/4311	425/1989	142/662	E/G	gAg/gGg		1		-1	LRRC32	HGNC	HGNC:4161	protein_coding	YES	CCDS8245.1	ENSP00000384126	Q14392	A0A024R5J7	UPI000012B0DF	NM_005512.2	tolerated(0.07)		3/3		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF337,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	82	76661168	76661168	T	C	1	0	0	0	0	1	0	0	0	8882	1551	54	5		5	LRRC32	11	76661168	Missense_Mutation	SNP	T	C3N-01799_TP	4	76661168	58425454	31	27318	578	2									
ROBO3	0	.	GRCh38	chr11	124880563	124880563	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggagccggagtcggagTcagagccggagccagagcca	9	2	18	12	4	1	2	1	0	0	2	2	6	1	6	5	5	4	0	5	5	0	0	rs564855529		C3N-01799_TP	C3N-01799_NB	T	T																c.4104T>C	p.=	p.S1368S	ENST00000397801	27/28	99	94	5	81	81	0	varscan-mutect	ROBO3,synonymous_variant,p.=,ENST00000397801,NM_022370.3;ROBO3,synonymous_variant,p.=,ENST00000538940,;ROBO3,synonymous_variant,p.=,ENST00000543966,;ROBO4,downstream_gene_variant,,ENST00000306534,NM_019055.5;ROBO4,downstream_gene_variant,,ENST00000533054,NM_001301088.1;RP11-664I21.5,upstream_gene_variant,,ENST00000524453,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525482,;ROBO3,downstream_gene_variant,,ENST00000528820,;ROBO3,downstream_gene_variant,,ENST00000528144,;ROBO3,downstream_gene_variant,,ENST00000531075,;ROBO3,downstream_gene_variant,,ENST00000526551,;ROBO3,downstream_gene_variant,,ENST00000532472,;ROBO3,downstream_gene_variant,,ENST00000531545,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527245,;ROBO3,non_coding_transcript_exon_variant,,ENST00000529658,;ROBO3,non_coding_transcript_exon_variant,,ENST00000525448,;ROBO3,non_coding_transcript_exon_variant,,ENST00000527196,;ROBO4,downstream_gene_variant,,ENST00000534407,;ROBO3,downstream_gene_variant,,ENST00000534598,;ROBO3,downstream_gene_variant,,ENST00000524971,;ROBO3,downstream_gene_variant,,ENST00000525304,;ROBO3,downstream_gene_variant,,ENST00000528068,;ROBO3,downstream_gene_variant,,ENST00000531888,;ROBO3,downstream_gene_variant,,ENST00000530647,;ROBO3,downstream_gene_variant,,ENST00000531119,;	C	ENST00000397801	Transcript	synonymous_variant	4296/4569	4104/4161	1368/1386	S	agT/agC	rs564855529	1		1	ROBO3	HGNC	HGNC:13433	protein_coding	YES	CCDS44755.1	ENSP00000380903	Q96MS0		UPI000035AA82	NM_022370.3			27/28		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs564855529	.												C	2	2	82	124880563	124880563	T	C	1	0	0	0	0	0	0	0	1	13693	1664	58	5		5	ROBO3	11	124880563	Silent	SNP	T	C3N-01799_TP	48219395	124880563	10206059	32	27319											
CHD4	0	.	GRCh38	chr12	6587559	6587559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccctctttgttgtctcctCctataaaaaatcaagggccc	9	13	5	14	0	3	0	1	0	2	0	6	0	5	0	4	1	0	1	4	1	5	4	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.3704G>A	p.Gly1235Glu	p.G1235E	ENST00000357008	25/40	124	106	18	112	112	0	strelka-varscan-mutect	CHD4,missense_variant,p.Gly1232Glu,ENST00000544484,;CHD4,missense_variant,p.Gly1228Glu,ENST00000544040,NM_001297553.1;CHD4,missense_variant,p.Gly1235Glu,ENST00000357008,NM_001273.3;RP5-940J5.6,downstream_gene_variant,,ENST00000501075,;CHD4,splice_region_variant,,ENST00000540960,;CHD4,intron_variant,,ENST00000536301,;CHD4,downstream_gene_variant,,ENST00000537634,;CHD4,downstream_gene_variant,,ENST00000545083,;	T	ENST00000357008	Transcript	missense_variant,splice_region_variant	3868/6496	3704/5739	1235/1912	G/E	gGa/gAa		1		-1	CHD4	HGNC	HGNC:1919	protein_coding	YES	CCDS8552.1	ENSP00000349508	Q14839		UPI000013C8EF	NM_001273.3	tolerated(0.54)		25/40																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	82	6587559	6587559	C	T	1	0	0	0	0	1	0	0	0	3086	869	30	3		3	CHD4	12	6587559	Missense_Mutation	SNP	C	C3N-01799_TP		6587559	126687750	33	27320											
PA2G4	0	.	GRCh38	chr12	56107048	56107048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatgtcacttctcccctttGaagagcgaccaggattatat	10	13	8	10	1	2	2	1	1	1	1	3	4	2	3	3	1	1	1	3	1	4	5	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.276G>A	p.=	p.L92L	ENST00000303305	3/13	293	262	31	173	173	0	strelka-varscan-mutect	PA2G4,synonymous_variant,p.=,ENST00000303305,NM_006191.2;PA2G4,synonymous_variant,p.=,ENST00000552766,;PA2G4,synonymous_variant,p.=,ENST00000551061,;PA2G4,synonymous_variant,p.=,ENST00000553057,;RP11-603J24.9,synonymous_variant,p.=,ENST00000548861,;ERBB3,downstream_gene_variant,,ENST00000267101,NM_001982.3;ERBB3,downstream_gene_variant,,ENST00000415288,;ERBB3,downstream_gene_variant,,ENST00000549832,;ERBB3,downstream_gene_variant,,ENST00000553131,;ERBB3,downstream_gene_variant,,ENST00000550070,;RP11-603J24.17,intron_variant,,ENST00000548595,;PA2G4,non_coding_transcript_exon_variant,,ENST00000550166,;ERBB3,downstream_gene_variant,,ENST00000551085,;ERBB3,downstream_gene_variant,,ENST00000551242,;PA2G4,upstream_gene_variant,,ENST00000552266,;PA2G4,upstream_gene_variant,,ENST00000552528,;	A	ENST00000303305	Transcript	synonymous_variant	695/2577	276/1185	92/394	L	ttG/ttA		1		1	PA2G4	HGNC	HGNC:8550	protein_coding	YES	CCDS8902.1	ENSP00000302886	Q9UQ80	A0A024RB85	UPI0000049B6B	NM_006191.2			3/13		Gene3D:3.90.230.10,Pfam_domain:PF00557,hmmpanther:PTHR10804,hmmpanther:PTHR10804:SF83,Superfamily_domains:SSF55920,TIGRFAM_domain:TIGR00495																	LOW	1	SNV	1			1										PASS		rs1219296678	.												A	2	1	82	56107048	56107048	G	A	1	0	0	0	0	0	0	0	1	11438	1281	45	3		3	PA2G4	12	56107048	Silent	SNP	G	C3N-01799_TP	49519489	56107048	77168261	34	27321											
SMARCC2	0	.	GRCh38	chr12	56184856	56184856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatttacctggtgtctcttGataatgtcctttaatttccc	7	18	5	11	0	1	1	0	1	1	0	4	1	3	1	4	1	1	0	4	1	3	7	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.480C>T	p.=	p.I160I	ENST00000267064	5/28	221	191	30	176	176	0	strelka-varscan-mutect	SMARCC2,synonymous_variant,p.=,ENST00000394023,NM_001130420.1;SMARCC2,synonymous_variant,p.=,ENST00000550164,;SMARCC2,synonymous_variant,p.=,ENST00000267064,NM_003075.3;SMARCC2,synonymous_variant,p.=,ENST00000347471,NM_139067.2;RP11-977G19.5,intron_variant,,ENST00000553176,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000550859,;SMARCC2,3_prime_UTR_variant,,ENST00000552674,;SMARCC2,3_prime_UTR_variant,,ENST00000550519,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000550150,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000552627,;SMARCC2,upstream_gene_variant,,ENST00000548130,;SMARCC2,upstream_gene_variant,,ENST00000549757,;SMARCC2,downstream_gene_variant,,ENST00000547356,;	A	ENST00000267064	Transcript	synonymous_variant	567/4076	480/3645	160/1214	I	atC/atT		1		-1	SMARCC2	HGNC	HGNC:11105	protein_coding	YES	CCDS8907.1	ENSP00000267064	Q8TAQ2	A0A024RB22	UPI0000071C4E	NM_003075.3			5/28		Pfam_domain:PF16496,Superfamily_domains:SSF52113																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	82	56184856	56184856	G	A	1	0	0	0	0	0	0	0	1	15069	1280	45	3		3	SMARCC2	12	56184856	Silent	SNP	G	C3N-01799_TP	77808	56184856	77090453	35	27322			3	22		3	3	2370	N	G_C	8.552158e-06
SMARCC2	0	.	GRCh38	chr12	56184906	56184906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctcaatttctgggcacaGaaaaatgttaggtcgagaca	13	9	12	7	1	2	2	1	0	1	2	3	3	2	2	0	3	0	3	0	3	4	2	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.430C>T	p.=	p.L144L	ENST00000267064	5/28	312	273	39	221	221	0	strelka-varscan-mutect	SMARCC2,synonymous_variant,p.=,ENST00000394023,NM_001130420.1;SMARCC2,synonymous_variant,p.=,ENST00000550164,;SMARCC2,synonymous_variant,p.=,ENST00000267064,NM_003075.3;SMARCC2,synonymous_variant,p.=,ENST00000347471,NM_139067.2;RP11-977G19.5,intron_variant,,ENST00000553176,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000550859,;SMARCC2,3_prime_UTR_variant,,ENST00000552674,;SMARCC2,3_prime_UTR_variant,,ENST00000550519,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000550150,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000552627,;SMARCC2,upstream_gene_variant,,ENST00000548130,;SMARCC2,upstream_gene_variant,,ENST00000549757,;SMARCC2,downstream_gene_variant,,ENST00000547356,;	A	ENST00000267064	Transcript	synonymous_variant	517/4076	430/3645	144/1214	L	Ctg/Ttg		1		-1	SMARCC2	HGNC	HGNC:11105	protein_coding	YES	CCDS8907.1	ENSP00000267064	Q8TAQ2	A0A024RB22	UPI0000071C4E	NM_003075.3			5/28		Pfam_domain:PF16496,Superfamily_domains:SSF52113																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	82	56184906	56184906	G	A	1	0	0	0	0	0	0	0	1	15069	933	33	3		3	SMARCC2	12	56184906	Silent	SNP	G	C3N-01799_TP	50	56184906	77090403	36	27323			3	22		3	3	2370	N	G_C	8.552158e-06
SMARCC2	0	.	GRCh38	chr12	56187225	56187225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattgctgacatgtttgcCaaaaacttcttcctgaaatt	11	15	6	9	0	1	2	0	2	1	0	2	2	2	2	2	0	4	3	2	0	3	5	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.193G>A	p.Gly65Ser	p.G65S	ENST00000267064	2/28	243	176	67	128	128	0	strelka-varscan-mutect	SMARCC2,missense_variant,p.Gly65Ser,ENST00000394023,NM_001130420.1;SMARCC2,missense_variant,p.Gly65Ser,ENST00000550164,;SMARCC2,missense_variant,p.Gly65Ser,ENST00000267064,NM_003075.3;SMARCC2,missense_variant,p.Gly65Ser,ENST00000347471,NM_139067.2;RP11-977G19.5,intron_variant,,ENST00000553176,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000550859,;SMARCC2,missense_variant,p.Gly65Ser,ENST00000552674,;SMARCC2,missense_variant,p.Gly65Ser,ENST00000550519,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000550150,;SMARCC2,non_coding_transcript_exon_variant,,ENST00000547356,;SMARCC2,upstream_gene_variant,,ENST00000549757,;SMARCC2,upstream_gene_variant,,ENST00000552627,;	T	ENST00000267064	Transcript	missense_variant	280/4076	193/3645	65/1214	G/S	Ggc/Agc		1		-1	SMARCC2	HGNC	HGNC:11105	protein_coding	YES	CCDS8907.1	ENSP00000267064	Q8TAQ2	A0A024RB22	UPI0000071C4E	NM_003075.3	deleterious(0)		2/28		Pfam_domain:PF16496																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	82	56187225	56187225	C	T	1	0	0	0	0	1	0	0	0	15069	594	21	3		3	SMARCC2	12	56187225	Missense_Mutation	SNP	C	C3N-01799_TP	2319	56187225	77088084	37	27324			3	22		3	3	2370	N	G_C	8.552158e-06
LRP1	0	.	GRCh38	chr12	57158496	57158496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtcccggatgagcacatGatccccattgaaaacctcat	13	8	8	12	1	1	3	1	3	0	0	3	4	3	4	4	2	2	1	4	2	3	1	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.1656G>A	p.Met552Ile	p.M552I	ENST00000243077	11/89	417	292	125	184	183	1	strelka-varscan-mutect	LRP1,missense_variant,p.Met552Ile,ENST00000243077,NM_002332.2;LRP1,downstream_gene_variant,,ENST00000554174,;	A	ENST00000243077	Transcript	missense_variant	2122/14897	1656/13635	552/4544	M/I	atG/atA		1		1	LRP1	HGNC	HGNC:6692	protein_coding	YES	CCDS8932.1	ENSP00000243077	Q07954		UPI00001B044F	NM_002332.2	tolerated(0.12)		11/89		Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		rs1300376436	.												A	3	1	82	57158496	57158496	G	A	1	0	0	0	0	1	0	0	0	8846	1290	45	3		3	LRP1	12	57158496	Missense_Mutation	SNP	G	C3N-01799_TP	971271	57158496	76116813	38	27325											
AVIL	0	.	GRCh38	chr12	57811038	57811038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcggtagccctgatgtttCttttccctttcacatgtagc	5	16	7	13	1	2	1	1	1	1	0	4	1	3	1	3	1	2	3	3	1	2	6	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.428G>A	p.Arg143Lys	p.R143K	ENST00000257861	4/19	171	148	23	132	132	0	strelka-varscan-mutect	AVIL,missense_variant,p.Arg143Lys,ENST00000257861,NM_006576.3;AVIL,missense_variant,p.Arg143Lys,ENST00000549994,;TSFM,downstream_gene_variant,,ENST00000548851,;RP11-571M6.18,upstream_gene_variant,,ENST00000602327,;RNU6-1083P,upstream_gene_variant,,ENST00000384022,;AVIL,upstream_gene_variant,,ENST00000550083,;AVIL,3_prime_UTR_variant,,ENST00000549851,;AVIL,non_coding_transcript_exon_variant,,ENST00000548843,;AVIL,upstream_gene_variant,,ENST00000549548,;AVIL,upstream_gene_variant,,ENST00000550537,;AVIL,upstream_gene_variant,,ENST00000549753,;	T	ENST00000257861	Transcript	missense_variant	859/2891	428/2460	143/819	R/K	aGa/aAa		1		-1	AVIL	HGNC	HGNC:14188	protein_coding	YES	CCDS8959.1	ENSP00000257861	O75366		UPI000013CF93	NM_006576.3	tolerated(1)		4/19		Gene3D:3.40.20.10,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF33,SMART_domains:SM00262,Superfamily_domains:SSF55753,Superfamily_domains:SSF82754																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	82	57811038	57811038	C	T	1	0	0	0	0	1	0	0	0	1383	913	32	3		3	AVIL	12	57811038	Missense_Mutation	SNP	C	C3N-01799_TP	652542	57811038	75464271	39	27326											
AVIL	0	.	GRCh38	chr12	57811097	57811097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtattggtctccacgtgcttCatcccagaggcgacaccccc	7	9	9	16	2	2	1	1	0	1	1	4	2	3	1	4	2	1	2	4	2	1	3	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.369G>A	p.Met123Ile	p.M123I	ENST00000257861	4/19	182	162	20	125	125	0	strelka-varscan-mutect	AVIL,missense_variant,p.Met123Ile,ENST00000257861,NM_006576.3;AVIL,missense_variant,p.Met123Ile,ENST00000549994,;TSFM,downstream_gene_variant,,ENST00000548851,;RP11-571M6.18,upstream_gene_variant,,ENST00000602327,;RNU6-1083P,upstream_gene_variant,,ENST00000384022,;AVIL,upstream_gene_variant,,ENST00000550083,;AVIL,3_prime_UTR_variant,,ENST00000549851,;AVIL,non_coding_transcript_exon_variant,,ENST00000548843,;AVIL,upstream_gene_variant,,ENST00000549548,;AVIL,upstream_gene_variant,,ENST00000550537,;AVIL,upstream_gene_variant,,ENST00000549753,;	T	ENST00000257861	Transcript	missense_variant	800/2891	369/2460	123/819	M/I	atG/atA		1		-1	AVIL	HGNC	HGNC:14188	protein_coding	YES	CCDS8959.1	ENSP00000257861	O75366		UPI000013CF93	NM_006576.3	deleterious(0.01)		4/19		Gene3D:3.40.20.10,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF33,Superfamily_domains:SSF55753,Superfamily_domains:SSF82754																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	82	57811097	57811097	C	T	1	0	0	0	0	1	0	0	0	1383	826	29	3		3	AVIL	12	57811097	Missense_Mutation	SNP	C	C3N-01799_TP	59	57811097	75464212	40	27327											
MED13L	0	.	GRCh38	chr12	116008970	116008970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaatggtattaagggtctCttttgcagcttgtctccttt	7	18	9	7	0	2	1	0	1	2	0	4	1	2	1	1	2	2	3	1	2	3	6			C3N-01799_TP	C3N-01799_NB	C	C																c.1443G>C	p.Lys481Asn	p.K481N	ENST00000281928	10/31	473	401	72	420	420	0	strelka-varscan-mutect	MED13L,missense_variant,p.Lys481Asn,ENST00000281928,NM_015335.4;MED13L,non_coding_transcript_exon_variant,,ENST00000549755,;	G	ENST00000281928	Transcript	missense_variant	1650/14234	1443/6633	481/2210	K/N	aaG/aaC	COSM3811147	1		-1	MED13L	HGNC	HGNC:22962	protein_coding	YES	CCDS9177.1	ENSP00000281928	Q71F56		UPI0000241C1E	NM_015335.4	deleterious(0.02)		10/31		hmmpanther:PTHR10791,hmmpanther:PTHR10791:SF64											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	82	116008970	116008970	C	G	1	0	0	0	0	1	0	0	0	9370	912	32	4		4	MED13L	12	116008970	Missense_Mutation	SNP	C	C3N-01799_TP	58197873	116008970	17266339	41	27328											
MYCBP2	0	.	GRCh38	chr13	77093266	77093266	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggtacagatgttgaacgTagatatctcatttcatcctg	11	13	9	8	1	2	3	2	1	1	2	4	3	3	3	1	1	2	4	1	1	4	5	novel		C3N-01799_TP	C3N-01799_NB	T	T																c.10152A>G	p.=	p.L3384L	ENST00000544440	59/83	279	253	26	237	237	0	strelka-varscan-mutect	MYCBP2,synonymous_variant,p.=,ENST00000357337,NM_015057.4;MYCBP2,synonymous_variant,p.=,ENST00000544440,;RP11-226E21.4,intron_variant,,ENST00000638101,;MYCBP2-AS1,intron_variant,,ENST00000593933,;MYCBP2-AS1,intron_variant,,ENST00000629771,;MYCBP2-AS1,intron_variant,,ENST00000627409,;MYCBP2-AS1,downstream_gene_variant,,ENST00000630676,;MYCBP2,downstream_gene_variant,,ENST00000482517,;MYCBP2,downstream_gene_variant,,ENST00000485061,;RP11-226E21.4,intron_variant,,ENST00000637192,;	C	ENST00000544440	Transcript	synonymous_variant	10170/14664	10152/13923	3384/4640	L	ctA/ctG		1		-1	MYCBP2	HGNC	HGNC:23386	protein_coding	YES		ENSP00000444596	O75592		UPI0000212757				59/83																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	82	77093266	77093266	T	C	1	0	0	0	0	0	0	0	1	10018	1625	57	5		5	MYCBP2	13	77093266	Silent	SNP	T	C3N-01799_TP		77093266	37271062	42	27329											
SLC38A6	0	.	GRCh38	chr14	61045351	61045351	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaatttttttcagagtgcTtatgccttaccaaccatggc	11	15	6	9	0	1	1	1	0	0	1	1	1	1	1	3	1	4	1	3	1	5	6	novel		C3N-01799_TP	C3N-01799_NB	T	T																c.750T>A	p.=	p.A250A	ENST00000354886	11/17	242	208	34	186	186	0	strelka-varscan-mutect	SLC38A6,synonymous_variant,p.=,ENST00000354886,NM_001172702.1;SLC38A6,synonymous_variant,p.=,ENST00000267488,NM_153811.2;SLC38A6,synonymous_variant,p.=,ENST00000451406,;SLC38A6,synonymous_variant,p.=,ENST00000529212,;SLC38A6,synonymous_variant,p.=,ENST00000533744,;SLC38A6,3_prime_UTR_variant,,ENST00000525723,;SLC38A6,3_prime_UTR_variant,,ENST00000491344,;SLC38A6,3_prime_UTR_variant,,ENST00000529345,;SLC38A6,3_prime_UTR_variant,,ENST00000527591,;SLC38A6,upstream_gene_variant,,ENST00000526539,;SLC38A6,downstream_gene_variant,,ENST00000528350,;	A	ENST00000354886	Transcript	synonymous_variant	914/1730	750/1566	250/521	A	gcT/gcA		1		1	SLC38A6	HGNC	HGNC:19863	protein_coding	YES	CCDS53900.1	ENSP00000346959	Q8IZM9		UPI000049DDBA	NM_001172702.1			11/17		hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF22,Pfam_domain:PF01490																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	82	61045351	61045351	T	A	1	0	0	0	0	0	0	0	1	14886	1623	56	4		4	SLC38A6	14	61045351	Silent	SNP	T	C3N-01799_TP		61045351	45998367	43	27330											
CLMN	0	.	GRCh38	chr14	95319781	95319781	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttggaaccagtcccactcGtgtgcagccatgaagcgcgg	8	7	13	13	4	0	1	0	1	0	0	2	2	1	2	3	2	4	2	3	2	2	1	rs367887539		C3N-01799_TP	C3N-01799_NB	G	G																c.12C>G	p.His4Gln	p.H4Q	ENST00000298912	1/13	172	142	30	130	130	0	strelka-mutect	CLMN,missense_variant,p.His4Gln,ENST00000298912,NM_024734.3;CLMN,missense_variant,p.His4Gln,ENST00000553733,;	C	ENST00000298912	Transcript	missense_variant	126/12747	12/3009	4/1002	H/Q	caC/caG	rs367887539,COSM4770850	1		-1	CLMN	HGNC	HGNC:19972	protein_coding	YES	CCDS9933.1	ENSP00000298912	Q96JQ2		UPI000006DB99	NM_024734.3	tolerated(0.6)		1/13													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs367887539	.												C	3	2	82	95319781	95319781	G	C	1	0	0	0	0	1	0	0	0	3311	1136	40	4		4	CLMN	14	95319781	Missense_Mutation	SNP	G	C3N-01799_TP	34274430	95319781	11723937	44	27331											
SPINT1	0	.	GRCh38	chr15	40844614	40844614	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccggccggcatccctgccgtCgccttgtggcttctgtgcac	2	10	12	17	4	1	0	0	0	1	0	3	0	2	0	5	3	2	3	5	3	0	2	rs760563007		C3N-01799_TP	C3N-01799_NB	C	C																c.60C>G	p.=	p.V20V	ENST00000344051	2/11	281	247	34	189	189	0	strelka-varscan-mutect	SPINT1,synonymous_variant,p.=,ENST00000344051,NM_181642.2;SPINT1,synonymous_variant,p.=,ENST00000562057,NM_003710.3,NM_001032367.1;SPINT1,synonymous_variant,p.=,ENST00000563656,;SPINT1,synonymous_variant,p.=,ENST00000568823,;SPINT1,upstream_gene_variant,,ENST00000568580,;RP11-532F12.5,upstream_gene_variant,,ENST00000564302,;RP11-532F12.5,upstream_gene_variant,,ENST00000565315,;RP11-532F12.5,upstream_gene_variant,,ENST00000568419,;RP11-532F12.5,upstream_gene_variant,,ENST00000568525,;RP11-532F12.5,upstream_gene_variant,,ENST00000563217,;	G	ENST00000344051	Transcript	synonymous_variant	294/3056	60/1590	20/529	V	gtC/gtG	rs760563007	1		1	SPINT1	HGNC	HGNC:11246	protein_coding	YES	CCDS10067.1	ENSP00000342098	O43278		UPI00001AE46F	NM_181642.2			2/11		Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10083:SF231,hmmpanther:PTHR10083																	LOW	1	SNV	1			1										PASS		rs760563007	.												G	2	3	82	40844614	40844614	C	G	1	0	0	0	0	0	0	0	1	15420	871	31	4		4	SPINT1	15	40844614	Silent	SNP	C	C3N-01799_TP		40844614	61146575	45	27332											
ZSCAN2	0	.	GRCh38	chr15	84620934	84620934	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgagaggacccacacaggaGagaaatactacaaatgtgat	18	5	10	8	1	0	3	0	1	0	2	0	7	0	5	1	2	2	0	1	2	4	2	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.739G>C	p.Glu247Gln	p.E247Q	ENST00000448803	3/3	345	311	34	279	279	0	strelka-varscan-mutect	ZSCAN2,missense_variant,p.Glu247Gln,ENST00000448803,NM_181877.3;ZSCAN2,missense_variant,p.Glu97Gln,ENST00000358472,;ZSCAN2,missense_variant,p.Glu246Gln,ENST00000327179,;ZSCAN2,missense_variant,p.Glu247Gln,ENST00000546148,;ZSCAN2,intron_variant,,ENST00000538076,;ZSCAN2,intron_variant,,ENST00000541040,;ZSCAN2,intron_variant,,ENST00000485222,;ZSCAN2,downstream_gene_variant,,ENST00000379358,NM_001007072.1;ZSCAN2,downstream_gene_variant,,ENST00000540936,;RP11-182J1.18,intron_variant,,ENST00000618330,;RP11-182J1.3,downstream_gene_variant,,ENST00000621980,;ZSCAN2,upstream_gene_variant,,ENST00000303310,;ZSCAN2,missense_variant,p.Glu247Gln,ENST00000540894,;	C	ENST00000448803	Transcript	missense_variant	1031/3813	739/1845	247/614	E/Q	Gag/Cag		1		1	ZSCAN2	HGNC	HGNC:20994	protein_coding	YES	CCDS10329.2	ENSP00000410198	Q7Z7L9		UPI000021D4BC	NM_181877.3	deleterious(0.03)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF9,hmmpanther:PTHR24387,Gene3D:3.30.160.60,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	82	84620934	84620934	G	C	1	0	0	0	0	1	0	0	0	18825	943	33	4		4	ZSCAN2	15	84620934	Missense_Mutation	SNP	G	C3N-01799_TP	43776320	84620934	17370255	46	27333											
ZNF843	0	.	GRCh38	chr16	31435848	31435848	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctggaggccttccacacCggaaacactggtagggctcc	8	6	13	14	2	0	0	0	0	0	0	2	2	2	2	4	6	1	3	4	6	2	2	novel		C3N-01799_TP	C3N-01799_NB	C	C																c.1002G>A	p.=	p.P334P	ENST00000315678	2/2	39	35	4	25	25	0	strelka-mutect	ZNF843,synonymous_variant,p.=,ENST00000315678,NM_001136509.1;ZNF843,synonymous_variant,p.=,ENST00000618063,;ZNF843,intron_variant,,ENST00000564218,;	T	ENST00000315678	Transcript	synonymous_variant	1727/2137	1002/1047	334/348	P	ccG/ccA		1		-1	ZNF843	HGNC	HGNC:28710	protein_coding	YES	CCDS45471.1	ENSP00000322899	Q8N446		UPI000006D317	NM_001136509.1			2/2																			LOW	1	SNV	2			1										PASS		.	.												T	2	4	82	31435848	31435848	C	T	1	0	0	0	0	0	0	0	1	18777	639	23	1		1	ZNF843	16	31435848	Silent	SNP	C	C3N-01799_TP		31435848	58902497	47	27334											
FANCA	0	.	GRCh38	chr16	89779885	89779885	+	Frame_Shift_Del	DEL	T	T	-																															ctacctggcctccatgacggTgactgggatgttccccgtat																								novel		C3N-01799_TP	C3N-01799_NB	T	T																c.1699delA	p.Thr567ProfsTer38	p.T567Pfs*38	ENST00000389301	18/43	497	439	58	366	366	0	sindel-varindel-pindel	FANCA,frameshift_variant,p.Thr567ProfsTer38,ENST00000389301,NM_000135.2;FANCA,frameshift_variant,p.Thr567ProfsTer38,ENST00000568369,NM_001286167.1;FANCA,upstream_gene_variant,,ENST00000567284,;FANCA,frameshift_variant,p.Thr25ProfsTer38,ENST00000567510,;	-	ENST00000389301	Transcript	frameshift_variant	1730/5451	1699/4368	567/1455	T/X	Acc/cc		1		-1	FANCA	HGNC	HGNC:3582	protein_coding	YES	CCDS32515.1	ENSP00000373952	O15360		UPI0000520A1A	NM_000135.2			18/43		hmmpanther:PTHR12047,hmmpanther:PTHR12047:SF4																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	82	89779885	89779885	T	-	1	0	1	0	1	0	0	0	0	5521	1696	59	0		0	FANCA	16	89779885	Frame_Shift_Del	DEL	T	C3N-01799_TP	58344037	89779885	558460	48	27335											
ITGA2B	0	.	GRCh38	chr17	44385299	44385299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tactcgcctgagtgaccacgGagctgaagcccgcttcacag	9	7	11	14	3	1	3	1	3	0	0	2	4	1	4	3	1	3	2	3	1	2	2	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.611C>T	p.Ser204Phe	p.S204F	ENST00000262407	5/30	688	622	66	431	430	1	strelka-varscan-mutect	ITGA2B,missense_variant,p.Ser204Phe,ENST00000262407,NM_000419.3;ITGA2B,non_coding_transcript_exon_variant,,ENST00000589645,;ITGA2B,non_coding_transcript_exon_variant,,ENST00000592944,;ITGA2B,non_coding_transcript_exon_variant,,ENST00000592253,;ITGA2B,upstream_gene_variant,,ENST00000592462,;ITGA2B,upstream_gene_variant,,ENST00000592226,;ITGA2B,upstream_gene_variant,,ENST00000591990,;ITGA2B,upstream_gene_variant,,ENST00000592075,;	A	ENST00000262407	Transcript	missense_variant	643/3333	611/3120	204/1039	S/F	tCc/tTc		1		-1	ITGA2B	HGNC	HGNC:6138	protein_coding	YES	CCDS32665.1	ENSP00000262407	P08514		UPI00001868B8	NM_000419.3	tolerated(0.08)		5/30		PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF73,hmmpanther:PTHR23220,Gene3D:3nigC00,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	82	44385299	44385299	G	A	1	0	0	0	0	1	0	0	0	7783	1174	41	3		3	ITGA2B	17	44385299	Missense_Mutation	SNP	G	C3N-01799_TP		44385299	38872142	49	27336											
EFCAB3	0	.	GRCh38	chr17	62406479	62406479	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattacttttttttttaaaGctatttccaaagaaaattcc	14	18	3	6	0	0	1	0	0	0	1	2	2	2	1	2	0	2	1	2	0	8	9	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.645-1G>T		p.X215_splice	ENST00000450662		112	105	7	67	67	0	varscan-mutect	EFCAB3,splice_acceptor_variant,,ENST00000450662,NM_001144933.1;EFCAB3,splice_acceptor_variant,,ENST00000305286,NM_173503.3;EFCAB3,splice_acceptor_variant,,ENST00000520404,;EFCAB3,splice_acceptor_variant,,ENST00000636041,;	T	ENST00000450662	Transcript	splice_acceptor_variant	-/1694	645/1473	215/490				1		1	EFCAB3	HGNC	HGNC:26379	protein_coding	YES	CCDS45751.1	ENSP00000403932	Q8N7B9		UPI0001929531	NM_001144933.1				8/11																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	82	62406479	62406479	G	T	1	0	0	0	0	0	0	1	0	4771	985	34	2		2	EFCAB3	17	62406479	Splice_Site	SNP	G	C3N-01799_TP	18021180	62406479	20850962	50	27337											
TANC2	0	.	GRCh38	chr17	63412030	63412030	+	Frame_Shift_Del	DEL	C	C	-																															gtagatcatggggccatgatCgagcacgttgactacagtgg																								rs201127113		C3N-01799_TP	C3N-01799_NB	C	C																c.3576delC	p.Ile1192MetfsTer28	p.I1192Mfs*28	ENST00000424789	21/25	201	175	26	149	149	0	sindel-varindel-pindel	TANC2,frameshift_variant,p.Ile1192MetfsTer28,ENST00000424789,NM_025185.3;TANC2,frameshift_variant,p.Ile1121MetfsTer28,ENST00000583356,;TANC2,frameshift_variant,p.Ile1192MetfsTer28,ENST00000389520,;TANC2,frameshift_variant,p.Ile293MetfsTer28,ENST00000613171,;RP11-269G24.3,intron_variant,,ENST00000583552,;AC015923.1,intron_variant,,ENST00000431604,;TANC2,upstream_gene_variant,,ENST00000579541,;	-	ENST00000424789	Transcript	frameshift_variant	3580/11721	3576/5973	1192/1990	I/X	atC/at	rs201127113	1		1	TANC2	HGNC	HGNC:30212	protein_coding	YES	CCDS45754.1	ENSP00000387593	Q9HCD6		UPI00015D57DF	NM_025185.3			21/25		Gene3D:1.25.40.20,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF21,SMART_domains:SM00248,Superfamily_domains:SSF48403																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	82	63412030	63412030	C	-	1	0	1	0	1	0	0	0	0	15942	874	31	0		0	TANC2	17	63412030	Frame_Shift_Del	DEL	C	C3N-01799_TP	1005551	63412030	19845411	51	27338											
ADAMTS10	0	.	GRCh38	chr19	8595790	8595790	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacactgacgcgatttgactCcatgctgaaagcggcattgc	10	10	10	11	3	0	3	0	3	0	0	1	4	1	3	1	1	4	2	1	1	2	3			C3N-01799_TP	C3N-01799_NB	C	C																c.1451G>C	p.Gly484Ala	p.G484A	ENST00000270328	11/25	644	591	53	443	443	0	strelka-varscan-mutect	ADAMTS10,missense_variant,p.Gly484Ala,ENST00000270328,;ADAMTS10,missense_variant,p.Gly484Ala,ENST00000597188,NM_030957.3;ADAMTS10,upstream_gene_variant,,ENST00000595838,NM_001282352.1;ADAMTS10,downstream_gene_variant,,ENST00000596709,;ADAMTS10,downstream_gene_variant,,ENST00000596466,;ADAMTS10,3_prime_UTR_variant,,ENST00000596851,;ADAMTS10,3_prime_UTR_variant,,ENST00000593913,;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000601163,;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000601872,;ADAMTS10,upstream_gene_variant,,ENST00000603221,;ADAMTS10,upstream_gene_variant,,ENST00000593826,;ADAMTS10,upstream_gene_variant,,ENST00000596236,;	G	ENST00000270328	Transcript	missense_variant	1682/4194	1451/3312	484/1103	G/A	gGa/gCa	COSM5391218	1		-1	ADAMTS10	HGNC	HGNC:13201	protein_coding	YES	CCDS12206.1	ENSP00000270328		A0A0A0MQW6	UPI00025D3090		deleterious(0)		11/25		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF26											1						MODERATE	1	SNV	5		1	1										PASS		.	.												G	3	3	82	8595790	8595790	C	G	1	0	0	0	0	1	0	0	0	300	855	30	4		4	ADAMTS10	19	8595790	Missense_Mutation	SNP	C	C3N-01799_TP		8595790	50021826	52	27339											
PRR12	0	.	GRCh38	chr19	49597094	49597094	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgcagccccagcccgcaagGcaccaaggcgccgcgtttcg	7	3	12	19	6	0	0	0	0	0	0	1	0	0	0	6	2	2	4	6	2	2	1	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.2759G>C	p.Gly920Ala	p.G920A	ENST00000418929	4/14	378	337	41	257	257	0	strelka-varscan-mutect	PRR12,missense_variant,p.Gly920Ala,ENST00000418929,NM_020719.1;PRR12,missense_variant,p.Gly99Ala,ENST00000615927,;	C	ENST00000418929	Transcript	missense_variant	2771/6955	2759/6111	920/2036	G/A	gGc/gCc		1		1	PRR12	HGNC	HGNC:29217	protein_coding	YES	CCDS46143.1	ENSP00000394510	Q9ULL5		UPI0001596889	NM_020719.1	deleterious(0.04)		4/14		hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	82	49597094	49597094	G	C	1	0	0	0	0	1	0	0	0	12719	1203	42	4		4	PRR12	19	49597094	Missense_Mutation	SNP	G	C3N-01799_TP	41001304	49597094	9020522	53	27340											
C20orf96	0	.	GRCh38	chr20	277288	277288	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatctggacagacttgaTggaatactcatggtccatgt	11	11	12	7	0	2	3	1	1	1	2	3	6	3	5	1	4	1	0	1	4	2	2	novel		C3N-01799_TP	C3N-01799_NB	T	T																c.661A>G	p.Ile221Val	p.I221V	ENST00000360321	7/11	307	287	20	248	248	0	strelka-varscan-mutect	C20orf96,missense_variant,p.Ile220Val,ENST00000400269,NM_080571.1;C20orf96,missense_variant,p.Ile221Val,ENST00000360321,NM_153269.2;C20orf96,missense_variant,p.Ile186Val,ENST00000382369,;	C	ENST00000360321	Transcript	missense_variant	800/1575	661/1092	221/363	I/V	Atc/Gtc		1		-1	C20orf96	HGNC	HGNC:16227	protein_coding	YES	CCDS12994.1	ENSP00000353470	Q9NUD7		UPI00001285F1	NM_153269.2	tolerated(1)		7/11		hmmpanther:PTHR28574:SF1,hmmpanther:PTHR28574,Pfam_domain:PF15397																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	82	277288	277288	T	C	1	0	0	0	0	1	0	0	0	2011	1464	51	5		5	C20orf96	20	277288	Missense_Mutation	SNP	T	C3N-01799_TP		277288	64166879	54	27341											
SYNJ1	0	.	GRCh38	chr21	32643459	32643459	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggaggggctccaataccTttttagagaaagaacagaaa	15	8	11	7	0	0	3	0	0	0	3	1	5	1	4	2	3	2	1	2	3	6	4	novel		C3N-01799_TP	C3N-01799_NB	T	T																c.3548-2A>C		p.X1183_splice	ENST00000433931		344	305	39	296	293	3	strelka-varscan-mutect	SYNJ1,splice_acceptor_variant,,ENST00000382499,NM_203446.2;SYNJ1,splice_acceptor_variant,,ENST00000433931,NM_003895.3;SYNJ1,intron_variant,,ENST00000357345,NM_001160302.1;SYNJ1,intron_variant,,ENST00000382491,;SYNJ1,intron_variant,,ENST00000630077,NM_001160306.1;SYNJ1,intron_variant,,ENST00000438952,;SYNJ1,upstream_gene_variant,,ENST00000418301,;	G	ENST00000433931	Transcript	splice_acceptor_variant	-/4852	3548/4839	1183/1612				1		-1	SYNJ1	HGNC	HGNC:11503	protein_coding	YES	CCDS33539.2	ENSP00000409667		J3KQV8	UPI0001A47572	NM_003895.3				26/31																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	82	32643459	32643459	T	G	1	0	0	0	0	0	0	1	0	15846	1623	56	5		5	SYNJ1	21	32643459	Splice_Site	SNP	T	C3N-01799_TP		32643459	14066524	55	27342											
ARMCX4	0	.	GRCh38	chrX	101494043	101494043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggctggggctgaggctggGgctggggctgaggctggggc	2	6	26	7	0	0	2	0	2	0	0	0	2	0	2	0	12	0	6	0	12	0	0	novel		C3N-01799_TP	C3N-01799_NB	G	G																c.5454G>A	p.=	p.G1818G	ENST00000423738	2/2	82	73	9	76	75	1	varscan-mutect	ARMCX4,synonymous_variant,p.=,ENST00000423738,NM_001256155.2;ARMCX4,intron_variant,,ENST00000433011,;ARMCX4,intron_variant,,ENST00000452188,;ARMCX4,intron_variant,,ENST00000354842,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;ARMCX4,intron_variant,,ENST00000455331,;	A	ENST00000423738	Transcript	synonymous_variant	5656/7424	5454/6873	1818/2290	G	ggG/ggA		1		1	ARMCX4	HGNC	HGNC:28615	protein_coding	YES	CCDS59170.1	ENSP00000404304		F8W8Y7	UPI000442CF06	NM_001256155.2			2/2		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	82	101494043	101494043	G	A	1	0	0	0	0	0	0	0	1	1102	1219	43	3		3	ARMCX4	23	101494043	Silent	SNP	G	C3N-01799_TP		101494043	54546852	56	27343											
CHD5	0	.	GRCh38	chr1	6123995	6123995	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcagggctggcgggcActggtgtgttggggtccgag	3	8	23	7	2	0	0	0	0	0	0	1	1	1	0	1	8	0	4	1	8	0	1	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.4652T>A	p.Val1551Glu	p.V1551E	ENST00000262450	31/42	195	178	17	123	123	0	strelka-varscan-mutect	CHD5,missense_variant,p.Val1551Glu,ENST00000262450,NM_015557.2;CHD5,missense_variant,p.Val934Glu,ENST00000462991,;CHD5,3_prime_UTR_variant,,ENST00000377999,;CHD5,intron_variant,,ENST00000496404,;CHD5,downstream_gene_variant,,ENST00000491020,;	T	ENST00000262450	Transcript	missense_variant	4752/9646	4652/5865	1551/1954	V/E	gTg/gAg		1		-1	CHD5	HGNC	HGNC:16816	protein_coding	YES	CCDS57.1	ENSP00000262450	Q8TDI0		UPI000006CD03	NM_015557.2	tolerated(0.17)		31/42		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	6123995	6123995	A	T	1	0	0	0	0	1	0	0	0	3087	159	6	4		4	CHD5	1	6123995	Missense_Mutation	SNP	A	C3N-01823_TP		6123995	242832427	1	27344											
ESPN	0	.	GRCh38	chr1	6445717	6445717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctacatggacatgctgaacCcggagctgggcctgcctcgg	7	7	14	13	2	0	1	0	1	0	0	1	3	0	3	3	4	5	3	3	4	2	1	rs576644460		C3N-01823_TP	C3N-01823_NB	C	C																c.1246C>A	p.Pro416Thr	p.P416T	ENST00000377828	7/13	347	304	43	208	208	0	strelka-varscan-mutect	ESPN,missense_variant,p.Pro416Thr,ENST00000636330,;ESPN,missense_variant,p.Pro416Thr,ENST00000377828,NM_031475.2;ESPN,missense_variant,p.Pro201Thr,ENST00000418286,;ESPN,upstream_gene_variant,,ENST00000461727,;ESPN,upstream_gene_variant,,ENST00000633239,;ESPN,upstream_gene_variant,,ENST00000416731,;ESPN,upstream_gene_variant,,ENST00000475228,;ESPN,upstream_gene_variant,,ENST00000632803,;ESPN,upstream_gene_variant,,ENST00000478323,;RP1-202O8.2,intron_variant,,ENST00000419034,;ESPN,downstream_gene_variant,,ENST00000633651,;ESPN,downstream_gene_variant,,ENST00000632142,;ESPN,upstream_gene_variant,,ENST00000475479,;ESPN,upstream_gene_variant,,ENST00000632593,;	A	ENST00000377828	Transcript	missense_variant	1414/3531	1246/2565	416/854	P/T	Ccg/Acg	rs576644460	1		1	ESPN	HGNC	HGNC:13281	protein_coding	YES	CCDS70.1	ENSP00000367059	B1AK53		UPI000013D2B6	NM_031475.2	deleterious(0.01)		7/13		hmmpanther:PTHR24153:SF14,hmmpanther:PTHR24153																	MODERATE	1	SNV	1			1										PASS		rs576644460	.												A	3	1	83	6445717	6445717	C	A	1	0	0	0	0	1	0	0	0	5116	623	22	2		2	ESPN	1	6445717	Missense_Mutation	SNP	C	C3N-01823_TP	321722	6445717	242510705	2	27345											
KIAA2013	0	.	GRCh38	chr1	11925687	11925687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgcagcagcacgcagTcgcggccggaccccgcggca	6	4	13	18	6	1	0	0	0	1	0	2	1	1	1	4	3	3	5	4	3	0	1	rs751115982		C3N-01823_TP	C3N-01823_NB	T	T																c.551A>G	p.Asp184Gly	p.D184G	ENST00000376572	1/3	325	304	21	202	202	0	varscan-mutect	KIAA2013,missense_variant,p.Asp184Gly,ENST00000376572,NM_138346.2;KIAA2013,missense_variant,p.Asp184Gly,ENST00000376576,;KIAA2013,missense_variant,p.Asp184Gly,ENST00000616327,;	C	ENST00000376572	Transcript	missense_variant	737/2815	551/1905	184/634	D/G	gAc/gGc	rs751115982	1		-1	KIAA2013	HGNC	HGNC:28513	protein_coding	YES	CCDS141.1	ENSP00000365756	Q8IYS2		UPI00000741FB	NM_138346.2	deleterious(0.01)		1/3		hmmpanther:PTHR31386:SF2,hmmpanther:PTHR31386,Pfam_domain:PF10222																	MODERATE	1	SNV	1			1										PASS		rs751115982	.												C	3	2	83	11925687	11925687	T	C	1	0	0	0	0	1	0	0	0	8132	1667	58	5		5	KIAA2013	1	11925687	Missense_Mutation	SNP	T	C3N-01823_TP	5479970	11925687	237030735	3	27346											
GRIK3	0	.	GRCh38	chr1	36841800	36841800	+	Frame_Shift_Del	DEL	C	C	-																															catcctgtgccccgtacttgCcgtcctccaccagccggatc																								novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1466delG	p.Gly489AlafsTer31	p.G489Afs*31	ENST00000373091	10/16	447	408	39	364	364	0	sindel-varindel-pindel	GRIK3,frameshift_variant,p.Gly489AlafsTer31,ENST00000373091,NM_000831.3;GRIK3,frameshift_variant,p.Gly489AlafsTer31,ENST00000373093,;	-	ENST00000373091	Transcript	frameshift_variant	1483/9101	1466/2760	489/919	G/X	gGc/gc		1		-1	GRIK3	HGNC	HGNC:4581	protein_coding	YES	CCDS416.1	ENSP00000362183	Q13003		UPI000013E311	NM_000831.3			10/16		Gene3D:3.40.190.10,Pfam_domain:PF10613,Prints_domain:PR00177,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF174,SMART_domains:SM00079,SMART_domains:SM00918,Superfamily_domains:SSF53850																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	83	36841800	36841800	C	-	1	0	1	0	1	0	0	0	0	6657	739	26	0		0	GRIK3	1	36841800	Frame_Shift_Del	DEL	C	C3N-01823_TP	24916113	36841800	212114622	4	27347											
MTF1	0	.	GRCh38	chr1	37815161	37815161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggagaagctgctggtgaggCccatctcctcctccccctgc	5	9	11	16	0	1	2	0	1	1	1	4	3	3	2	5	3	3	2	5	3	1	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.2237G>T	p.Gly746Val	p.G746V	ENST00000373036	11/11	188	159	29	116	116	0	strelka-varscan-mutect	MTF1,missense_variant,p.Gly746Val,ENST00000373036,NM_005955.2;	A	ENST00000373036	Transcript	missense_variant	2378/7972	2237/2262	746/753	G/V	gGc/gTc		1		-1	MTF1	HGNC	HGNC:7428	protein_coding	YES	CCDS30676.1	ENSP00000362127	Q14872		UPI000006E9B3	NM_005955.2	deleterious_low_confidence(0.01)		11/11																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	37815161	37815161	C	A	1	0	0	0	0	1	0	0	0	9907	739	26	2		2	MTF1	1	37815161	Missense_Mutation	SNP	C	C3N-01823_TP	973361	37815161	211141261	5	27348											
CDC20	0	.	GRCh38	chr1	43359346	43359346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggccccctcacccatgcGggccgccaaccgatcccaca	7	3	8	23	4	1	0	1	0	0	0	2	1	2	0	8	2	2	0	8	2	1	0			C3N-01823_TP	C3N-01823_NB	G	G																c.131G>A	p.Arg44Gln	p.R44Q	ENST00000372462	1/10	220	194	26	144	144	0	strelka-varscan-mutect	CDC20,missense_variant,p.Arg44Gln,ENST00000372462,;CDC20,missense_variant,p.Arg44Gln,ENST00000310955,NM_001255.2;ELOVL1,downstream_gene_variant,,ENST00000621943,NM_001256399.1;ELOVL1,downstream_gene_variant,,ENST00000372458,NM_001256402.1,NM_022821.3;ELOVL1,downstream_gene_variant,,ENST00000413844,NM_001256401.1;RP1-92O14.3,upstream_gene_variant,,ENST00000424948,;ELOVL1,downstream_gene_variant,,ENST00000470769,;ELOVL1,downstream_gene_variant,,ENST00000464204,;ELOVL1,downstream_gene_variant,,ENST00000482302,;ELOVL1,downstream_gene_variant,,ENST00000497050,;ELOVL1,downstream_gene_variant,,ENST00000470968,;ELOVL1,downstream_gene_variant,,ENST00000497569,;ELOVL1,downstream_gene_variant,,ENST00000487209,;ELOVL1,downstream_gene_variant,,ENST00000468865,;CDC20,upstream_gene_variant,,ENST00000478882,;CDC20,upstream_gene_variant,,ENST00000482046,;	A	ENST00000372462	Transcript	missense_variant	334/1777	131/1500	44/499	R/Q	cGg/cAg	COSM535136	1		1	CDC20	HGNC	HGNC:1723	protein_coding	YES	CCDS484.1	ENSP00000361540	Q12834		UPI0000072C04		tolerated(0.16)		1/10		hmmpanther:PTHR19918,hmmpanther:PTHR19918:SF3											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	83	43359346	43359346	G	A	1	0	0	0	0	1	0	0	0	2762	1116	39	1		1	CDC20	1	43359346	Missense_Mutation	SNP	G	C3N-01823_TP	5544185	43359346	205597076	6	27349											
SZT2	0	.	GRCh38	chr1	43420214	43420214	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcaaccctgccctggcCttgcgccggaagaagcacac	10	4	11	16	2	0	1	0	0	0	1	0	2	0	2	4	2	6	3	4	2	3	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1152C>T	p.=	p.A384A	ENST00000562955	9/71	255	237	18	199	199	0	strelka-varscan-mutect	SZT2,synonymous_variant,p.=,ENST00000562955,NM_015284.3;SZT2,synonymous_variant,p.=,ENST00000634258,;SZT2,upstream_gene_variant,,ENST00000470139,;	T	ENST00000562955	Transcript	synonymous_variant	1152/12281	1152/10128	384/3375	A	gcC/gcT		1		1	SZT2	HGNC	HGNC:29040	protein_coding	YES	CCDS30694.2	ENSP00000457168	Q5T011		UPI0001E24F46	NM_015284.3			9/71		hmmpanther:PTHR14918																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	83	43420214	43420214	C	T	1	0	0	0	0	0	0	0	1	15883	668	24	3		3	SZT2	1	43420214	Silent	SNP	C	C3N-01823_TP	60868	43420214	205536208	7	27350											
LRRC7	0	.	GRCh38	chr1	69838276	69838276	+	Missense_Mutation	SNP	C	C	A																															gagaaaatcacttgaaaactCtaccaaagtaagtgactgtg																								novel		C3N-01823_TP	C3N-01823_NB	C	C																c.526C>A	p.Leu176Ile	p.L176I	ENST00000035383	5/25	198	186	12	186	186	0	strelka-varscan-mutect	LRRC7,missense_variant,p.Leu181Ile,ENST00000310961,;LRRC7,missense_variant,p.Leu176Ile,ENST00000035383,NM_020794.2;LRRC7,missense_variant,p.Leu214Ile,ENST00000370958,;LRRC7,5_prime_UTR_variant,,ENST00000415775,;	A	ENST00000035383	Transcript	missense_variant	556/5000	526/4614	176/1537	L/I	Cta/Ata		1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2	deleterious(0.05)		5/25		PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF459,hmmpanther:PTHR23155,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	69838276	69838276	C	A	1	0	0	0	0	1	0	0	0	8916	912	32	2		2	LRRC7	1	69838276	Missense_Mutation	SNP	C	C3N-01823_TP	26418062	69838276	179118146	8	27351	579	2									
LRRC7	0	.	GRCh38	chr1	69838277	69838277	+	Missense_Mutation	SNP	T	T	C																															agaaaatcacttgaaaactcTaccaaagtaagtgactgtgt																								novel		C3N-01823_TP	C3N-01823_NB	T	T																c.527T>C	p.Leu176Pro	p.L176P	ENST00000035383	5/25	201	189	12	191	191	0	strelka-varscan-mutect	LRRC7,missense_variant,p.Leu181Pro,ENST00000310961,;LRRC7,missense_variant,p.Leu176Pro,ENST00000035383,NM_020794.2;LRRC7,missense_variant,p.Leu214Pro,ENST00000370958,;LRRC7,5_prime_UTR_variant,,ENST00000415775,;	C	ENST00000035383	Transcript	missense_variant	557/5000	527/4614	176/1537	L/P	cTa/cCa		1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2	deleterious(0)		5/25		PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF459,hmmpanther:PTHR23155,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	69838277	69838277	T	C	1	0	0	0	0	1	0	0	0	8916	1522	53	5		5	LRRC7	1	69838277	Missense_Mutation	SNP	T	C3N-01823_TP	1	69838277	179118145	9	27352	579	2									
LRRC7	0	.	GRCh38	chr1	70039773	70039773	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagctgcttagacatataGaagctagacggttagacagg	15	8	11	7	1	0	4	0	0	0	4	0	4	0	4	0	2	4	4	0	2	7	5	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.3835G>T	p.Glu1279Ter	p.E1279*	ENST00000035383	19/25	94	85	9	78	78	0	strelka-varscan-mutect	LRRC7,stop_gained,p.Glu1284Ter,ENST00000310961,;LRRC7,stop_gained,p.Glu1279Ter,ENST00000035383,NM_020794.2;LRRC7,stop_gained,p.Glu563Ter,ENST00000415775,;	T	ENST00000035383	Transcript	stop_gained	3865/5000	3835/4614	1279/1537	E/*	Gaa/Taa		1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2			19/25																			HIGH	1	SNV	1			1										PASS		.	.												T	4	4	83	70039773	70039773	G	T	1	0	0	0	0	0	1	0	0	8916	943	33	2		2	LRRC7	1	70039773	Nonsense_Mutation	SNP	G	C3N-01823_TP	201496	70039773	178916649	10	27353											
DNTTIP2	0	.	GRCh38	chr1	93876389	93876389	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctttttcttcctcaaTggcaacctcacttgccttgt	5	18	4	14	0	5	0	2	0	3	0	6	0	6	0	3	1	2	1	3	1	2	6	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.1546A>T	p.Ile516Phe	p.I516F	ENST00000436063	2/7	353	323	30	254	254	0	strelka-varscan-mutect	DNTTIP2,missense_variant,p.Ile516Phe,ENST00000436063,NM_014597.4;DNTTIP2,downstream_gene_variant,,ENST00000528680,;DNTTIP2,non_coding_transcript_exon_variant,,ENST00000460191,;DNTTIP2,downstream_gene_variant,,ENST00000496672,;DNTTIP2,upstream_gene_variant,,ENST00000496535,;DNTTIP2,missense_variant,p.Ile516Phe,ENST00000359208,;	A	ENST00000436063	Transcript	missense_variant	1604/5897	1546/2271	516/756	I/F	Att/Ttt		1		-1	DNTTIP2	HGNC	HGNC:24013	protein_coding	YES	CCDS44174.1	ENSP00000411010	Q5QJE6		UPI000006F063	NM_014597.4	deleterious(0.04)		2/7		hmmpanther:PTHR21686:SF12,hmmpanther:PTHR21686																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	93876389	93876389	T	A	1	0	0	0	0	1	0	0	0	4496	1464	51	4		4	DNTTIP2	1	93876389	Missense_Mutation	SNP	T	C3N-01823_TP	23836616	93876389	155080033	11	27354											
PLPPR5	0	.	GRCh38	chr1	98953280	98953280	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgactacttgtccagcattTacaaagatatctgtagcaaa	14	12	7	8	0	1	2	0	1	1	1	2	2	2	2	1	0	4	3	1	0	6	6	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.411A>G	p.=	p.V137V	ENST00000263177	3/6	340	308	32	270	270	0	strelka-varscan-mutect	PLPPR5,synonymous_variant,p.=,ENST00000370188,NM_001010861.2;PLPPR5,synonymous_variant,p.=,ENST00000263177,NM_001037317.1;	C	ENST00000263177	Transcript	synonymous_variant	633/3288	411/966	137/321	V	gtA/gtG		1		-1	PLPPR5	HGNC	HGNC:31703	protein_coding	YES	CCDS30778.1	ENSP00000263177	Q32ZL2		UPI0000048D53	NM_001037317.1			3/6		Gene3D:1.20.144.10,Pfam_domain:PF01569,hmmpanther:PTHR10165,hmmpanther:PTHR10165:SF17,SMART_domains:SM00014,Superfamily_domains:SSF48317,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	83	98953280	98953280	T	C	1	0	0	0	0	0	0	0	1	12213	1741	61	5		5	PLPPR5	1	98953280	Silent	SNP	T	C3N-01823_TP	5076891	98953280	150003142	12	27355											
COL11A1	0	.	GRCh38	chr1	102889517	102889517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcggtcacctttttcccCttgttctcctggaggaccaa	5	13	7	16	1	2	0	1	0	1	0	5	2	3	2	6	3	0	1	6	3	1	4			C3N-01823_TP	C3N-01823_NB	C	C																c.4402G>T	p.Gly1468Trp	p.G1468W	ENST00000370096	59/67	286	268	18	247	247	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Gly1480Trp,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Gly1468Trp,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Gly1429Trp,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Gly1352Trp,ENST00000512756,NM_080630.3;COL11A1,3_prime_UTR_variant,,ENST00000635193,;	A	ENST00000370096	Transcript	missense_variant	4715/7286	4402/5421	1468/1806	G/W	Ggg/Tgg	COSM3975758,COSM3975759	1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0)		59/67		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	83	102889517	102889517	C	A	1	0	0	0	0	1	0	0	0	3455	681	24	2		2	COL11A1	1	102889517	Missense_Mutation	SNP	C	C3N-01823_TP	3936237	102889517	146066905	13	27356											
GPR61	0	.	GRCh38	chr1	109543161	109543161	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcggaatctgtggccctcTtcttcatgctcctgctggac	4	14	9	14	1	4	0	1	0	3	0	6	2	5	2	2	3	2	2	2	3	1	3	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.139T>A	p.Phe47Ile	p.F47I	ENST00000527748	2/2	98	86	12	67	67	0	varscan-mutect	GPR61,missense_variant,p.Phe47Ile,ENST00000527748,;GPR61,missense_variant,p.Phe47Ile,ENST00000618721,NM_031936.4;GPR61,missense_variant,p.Phe47Ile,ENST00000616874,;RP5-1160K1.8,intron_variant,,ENST00000526411,;GPR61,upstream_gene_variant,,ENST00000526744,;GPR61,downstream_gene_variant,,ENST00000533959,;GPR61,missense_variant,p.Phe47Ile,ENST00000404129,;GPR61,missense_variant,p.Phe47Ile,ENST00000469383,;	A	ENST00000527748	Transcript	missense_variant	822/4921	139/1356	47/451	F/I	Ttc/Atc		1		1	GPR61	HGNC	HGNC:13300	protein_coding	YES	CCDS801.1	ENSP00000432456	Q9BZJ8	G4XH66	UPI000003BCCB		tolerated(0.13)		2/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR22752,hmmpanther:PTHR22752:SF5,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	2			1										PASS		rs1244295412	.												A	3	1	83	109543161	109543161	T	A	1	0	0	0	0	1	0	0	0	6586	1609	56	4		4	GPR61	1	109543161	Missense_Mutation	SNP	T	C3N-01823_TP	6653644	109543161	139413261	14	27357											
KCNA10	0	.	GRCh38	chr1	110518614	110518614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggagaaggccgtctcatgGttggtgctttcgctgatgag	6	13	15	7	2	1	3	1	2	1	1	3	4	1	3	1	4	1	3	1	4	1	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.174C>A	p.Asn58Lys	p.N58K	ENST00000369771	1/1	158	140	18	107	107	0	strelka-varscan-mutect	KCNA10,missense_variant,p.Asn58Lys,ENST00000369771,NM_005549.2;	T	ENST00000369771	Transcript	missense_variant	562/1959	174/1536	58/511	N/K	aaC/aaA		1		-1	KCNA10	HGNC	HGNC:6219	protein_coding	YES	CCDS826.1	ENSP00000358786	Q16322		UPI0000071B2B	NM_005549.2	tolerated_low_confidence(0.63)		1/1																			MODERATE	1	SNV				1										PASS		.	.												T	3	4	83	110518614	110518614	G	T	1	0	0	0	0	1	0	0	0	7918	1252	44	2		2	KCNA10	1	110518614	Missense_Mutation	SNP	G	C3N-01823_TP	975453	110518614	138437808	15	27358											
FAM19A3	0	.	GRCh38	chr1	112724137	112724137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaaagtcaaaaccaccaaGgtaccctgggtgggcacctc	13	5	9	14	0	1	0	1	0	0	0	2	0	1	0	4	3	2	2	4	3	5	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.458G>A	p.Arg153Lys	p.R153K	ENST00000369630	4/5	82	75	7	52	52	0	strelka-varscan-mutect	FAM19A3,missense_variant,p.Arg153Lys,ENST00000369630,NM_001004440.1;FAM19A3,splice_region_variant,p.=,ENST00000361886,NM_182759.2;	A	ENST00000369630	Transcript	missense_variant,splice_region_variant	675/1282	458/510	153/169	R/K	aGg/aAg		1		1	FAM19A3	HGNC	HGNC:21590	protein_coding	YES	CCDS30806.1	ENSP00000358644	Q7Z5A8		UPI0000160A38	NM_001004440.1	tolerated_low_confidence(0.07)		4/5																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	112724137	112724137	G	A	1	0	0	0	0	1	0	0	0	5380	1014	35	3		3	FAM19A3	1	112724137	Missense_Mutation	SNP	G	C3N-01823_TP	2205523	112724137	136232285	16	27359											
FLG2	0	.	GRCh38	chr1	152354964	152354964	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccaaaagtctgtcctgaaCttgacccatgttgaccatag	12	11	7	11	0	1	3	0	3	1	0	3	3	3	3	4	0	1	1	4	0	4	3	rs764546221		C3N-01823_TP	C3N-01823_NB	C	C																c.2822G>C	p.Ser941Thr	p.S941T	ENST00000388718	3/3	525	478	47	325	324	1	varscan-mutect	FLG2,missense_variant,p.Ser941Thr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;FLG-AS1,intron_variant,,ENST00000629331,;	G	ENST00000388718	Transcript	missense_variant	2895/9124	2822/7176	941/2391	S/T	aGt/aCt	rs764546221,COSM1207209	1		-1	FLG2	HGNC	HGNC:33276	protein_coding	YES	CCDS30861.1	ENSP00000373370	Q5D862		UPI00004E1DE5	NM_001014342.2	tolerated(0.47)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF24,hmmpanther:PTHR22571											0,1						MODERATE		SNV	5		0,1	1										PASS		rs764546221	.												G	3	3	83	152354964	152354964	C	G	1	0	0	0	0	1	0	0	0	5785	565	20	4		4	FLG2	1	152354964	Missense_Mutation	SNP	C	C3N-01823_TP	39630827	152354964	96601458	17	27360											
MUC1	0	.	GRCh38	chr1	155187550	155187550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccagccccagactgggCagagaaaggaaatggcacat	14	3	11	13	0	0	2	0	0	0	2	0	4	0	3	4	3	1	2	4	3	2	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1135G>A	p.Ala379Thr	p.A379T	ENST00000612778	6/8	305	280	25	198	198	0	strelka-varscan-mutect	MUC1,missense_variant,p.Ala1157Thr,ENST00000611571,;MUC1,missense_variant,p.Ala379Thr,ENST00000612778,NM_001204286.1;MUC1,missense_variant,p.Ala370Thr,ENST00000620103,NM_001204285.1;MUC1,missense_variant,p.Ala177Thr,ENST00000457295,;MUC1,missense_variant,p.Ala137Thr,ENST00000462317,;MUC1,missense_variant,p.Ala136Thr,ENST00000338684,NM_001204289.1,NM_001204291.1;MUC1,missense_variant,p.Ala134Thr,ENST00000610359,NM_001204292.1;MUC1,missense_variant,p.Ala159Thr,ENST00000368392,NM_001018016.2,NM_001204288.1;MUC1,missense_variant,p.Ala124Thr,ENST00000438413,NM_001204290.1;MUC1,missense_variant,p.Ala168Thr,ENST00000337604,NM_001204287.1,NM_002456.5;MUC1,missense_variant,p.Ala150Thr,ENST00000368390,NM_001018017.2;MUC1,missense_variant,p.Ala125Thr,ENST00000368398,NM_001204294.1;MUC1,missense_variant,p.Ala98Thr,ENST00000343256,NM_001044390.2,NM_001204296.1;MUC1,splice_region_variant,,ENST00000615517,NM_001204295.1;MUC1,splice_region_variant,,ENST00000485118,;MUC1,splice_region_variant,,ENST00000471283,NM_001044393.2;MUC1,splice_region_variant,,ENST00000342482,;MUC1,3_prime_UTR_variant,,ENST00000462215,;MUC1,3_prime_UTR_variant,,ENST00000614519,;MUC1,intron_variant,,ENST00000611577,;MUC1,intron_variant,,ENST00000368393,NM_001204293.1;MUC1,intron_variant,,ENST00000368389,NM_001204297.1;MUC1,intron_variant,,ENST00000368396,NM_001044392.2,NM_001044391.2;TRIM46,downstream_gene_variant,,ENST00000392451,NM_001256600.1;TRIM46,downstream_gene_variant,,ENST00000368382,NM_001256599.1;TRIM46,downstream_gene_variant,,ENST00000611379,NM_001256601.1;TRIM46,downstream_gene_variant,,ENST00000334634,NM_025058.4;TRIM46,downstream_gene_variant,,ENST00000545012,NM_001282378.1;TRIM46,downstream_gene_variant,,ENST00000368383,;AC234582.2,upstream_gene_variant,,ENST00000623940,;AC234582.1,upstream_gene_variant,,ENST00000624572,;TRIM46,downstream_gene_variant,,ENST00000468878,;TRIM46,downstream_gene_variant,,ENST00000474430,;MUC1,downstream_gene_variant,,ENST00000466913,;MUC1,3_prime_UTR_variant,,ENST00000610468,;MUC1,3_prime_UTR_variant,,ENST00000498431,;MUC1,3_prime_UTR_variant,,ENST00000467134,;MUC1,non_coding_transcript_exon_variant,,ENST00000468978,;RP11-201K10.3,upstream_gene_variant,,ENST00000473363,;MUC1,downstream_gene_variant,,ENST00000620770,;	T	ENST00000612778	Transcript	missense_variant	1207/1836	1135/1455	379/484	A/T	Gcc/Acc		1		-1	MUC1	HGNC	HGNC:7508	protein_coding	YES	CCDS72933.1	ENSP00000484824		A0A087X2A4	UPI000059C524	NM_001204286.1	tolerated(0.1)		6/8		hmmpanther:PTHR10006:SF8,hmmpanther:PTHR10006,SMART_domains:SM00200																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	83	155187550	155187550	C	T	1	0	0	0	0	1	0	0	0	9968	724	25	3		3	MUC1	1	155187550	Missense_Mutation	SNP	C	C3N-01823_TP	2832586	155187550	93768872	18	27361											
HAPLN2	0	.	GRCh38	chr1	156625319	156625319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcccggatcccggagtgCgcagtttcggcttccccagg	4	8	14	15	4	0	0	0	0	0	0	4	2	3	2	4	5	1	4	4	5	0	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.958C>G	p.Arg320Gly	p.R320G	ENST00000255039	7/7	177	164	13	131	131	0	strelka-varscan-mutect	HAPLN2,missense_variant,p.Arg320Gly,ENST00000255039,NM_021817.2;HAPLN2,downstream_gene_variant,,ENST00000456112,;HAPLN2,non_coding_transcript_exon_variant,,ENST00000494218,;HAPLN2,downstream_gene_variant,,ENST00000487988,;HAPLN2,downstream_gene_variant,,ENST00000482204,;	G	ENST00000255039	Transcript	missense_variant	1365/1771	958/1023	320/340	R/G	Cgc/Ggc		1		1	HAPLN2	HGNC	HGNC:17410	protein_coding	YES	CCDS1148.1	ENSP00000255039	Q9GZV7		UPI00000012E0	NM_021817.2	deleterious(0)		7/7		Gene3D:3.10.100.10,Pfam_domain:PF00193,PROSITE_profiles:PS50963,hmmpanther:PTHR22804,SMART_domains:SM00445,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		rs1200781996	.												G	3	3	83	156625319	156625319	C	G	1	0	0	0	0	1	0	0	0	6841	768	27	4		4	HAPLN2	1	156625319	Missense_Mutation	SNP	C	C3N-01823_TP	1437769	156625319	92331103	19	27362											
FCRL2	0	.	GRCh38	chr1	157748881	157748881	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagacactcaccattgaCatacactggctgcagctcct	10	9	9	13	0	1	2	1	1	0	1	2	3	2	2	2	2	3	3	2	2	1	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1387G>C	p.Val463Leu	p.V463L	ENST00000361516	9/12	205	192	13	130	130	0	strelka-varscan-mutect	FCRL2,missense_variant,p.Val463Leu,ENST00000361516,NM_030764.3;FCRL2,missense_variant,p.Val179Leu,ENST00000368181,;FCRL2,non_coding_transcript_exon_variant,,ENST00000368178,;	G	ENST00000361516	Transcript	missense_variant	1436/2579	1387/1527	463/508	V/L	Gtc/Ctc		1		-1	FCRL2	HGNC	HGNC:14875	protein_coding	YES	CCDS1168.1	ENSP00000355157	Q96LA5		UPI000006E1F3	NM_030764.3	tolerated(0.26)		9/12		hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF61,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	83	157748881	157748881	C	G	1	0	0	0	0	1	0	0	0	5658	478	17	4		4	FCRL2	1	157748881	Missense_Mutation	SNP	C	C3N-01823_TP	1123562	157748881	91207541	20	27363											
SPTA1	0	.	GRCh38	chr1	158645537	158645537	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctatgccagttaagtcttcGgccagctcctgtgatgatac	8	13	9	11	1	2	2	0	2	2	0	4	2	3	2	3	1	3	2	3	1	3	4	rs369559397		C3N-01823_TP	C3N-01823_NB	G	G																c.3954C>G	p.=	p.A1318A	ENST00000368147	28/52	693	641	52	490	490	0	strelka-varscan-mutect	SPTA1,synonymous_variant,p.=,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000465741,;	C	ENST00000368147	Transcript	synonymous_variant	4135/7999	3954/7260	1318/2419	A	gcC/gcG	rs369559397	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2			28/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	LOW	1	SNV	1			1										PASS		rs369559397	.												C	2	2	83	158645537	158645537	G	C	1	0	0	0	0	0	0	0	1	15472	1103	39	4		4	SPTA1	1	158645537	Silent	SNP	G	C3N-01823_TP	896656	158645537	90310885	21	27364											
OR10J3	0	.	GRCh38	chr1	159314546	159314546	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacattgccagagagagtCagcaggtacaaagttaggaa	16	7	11	7	0	2	2	2	0	0	2	2	4	2	3	1	2	3	3	1	2	4	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.114G>T	p.=	p.L38L	ENST00000332217	1/1	448	422	26	279	279	0	strelka-varscan-mutect	OR10J3,synonymous_variant,p.=,ENST00000332217,NM_001004467.1;	A	ENST00000332217	Transcript	synonymous_variant	114/990	114/990	38/329	L	ctG/ctT		1		-1	OR10J3	HGNC	HGNC:14992	protein_coding	YES	CCDS30909.1	ENSP00000331789	Q5JRS4		UPI0000441EEF	NM_001004467.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF28,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												A	2	1	83	159314546	159314546	C	A	1	0	0	0	0	0	0	0	1	10988	813	29	2		2	OR10J3	1	159314546	Silent	SNP	C	C3N-01823_TP	669009	159314546	89641876	22	27365											
IGSF9	0	.	GRCh38	chr1	159934258	159934258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtggggggttggcacgaaCcgggcagcggatcacccccg	7	4	17	13	4	1	0	1	0	0	0	1	2	1	1	3	6	2	3	3	6	1	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1036G>T	p.Val346Phe	p.V346F	ENST00000368094	9/21	227	205	22	142	142	0	strelka-varscan-mutect	IGSF9,missense_variant,p.Val346Phe,ENST00000368094,NM_001135050.1;IGSF9,missense_variant,p.Val330Phe,ENST00000361509,NM_020789.3;IGSF9,missense_variant,p.Val346Phe,ENST00000611023,;IGSF9,non_coding_transcript_exon_variant,,ENST00000476102,;IGSF9,upstream_gene_variant,,ENST00000493195,;IGSF9,upstream_gene_variant,,ENST00000496645,;	A	ENST00000368094	Transcript	missense_variant	1234/4044	1036/3540	346/1179	V/F	Gtt/Ttt		1		-1	IGSF9	HGNC	HGNC:18132	protein_coding	YES	CCDS44254.1	ENSP00000357073	Q9P2J2		UPI000004A10B	NM_001135050.1	deleterious(0.02)		9/21		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF708,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	159934258	159934258	C	A	1	0	0	0	0	1	0	0	0	7513	507	18	2		2	IGSF9	1	159934258	Missense_Mutation	SNP	C	C3N-01823_TP	619712	159934258	89022164	23	27366											
NOS1AP	0	.	GRCh38	chr1	162355311	162355311	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccgaggtgtgactgatctAgatgctgtagggaaggaagg	11	8	17	5	1	1	3	0	2	1	1	1	6	1	5	1	4	2	2	1	4	4	2	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.720A>T	p.=	p.L240L	ENST00000361897	7/10	759	688	71	480	480	0	strelka-varscan-mutect	NOS1AP,synonymous_variant,p.=,ENST00000361897,NM_014697.2;NOS1AP,synonymous_variant,p.=,ENST00000530878,NM_001164757.1;NOS1AP,synonymous_variant,p.=,ENST00000430120,;	T	ENST00000361897	Transcript	synonymous_variant	1122/4931	720/1521	240/506	L	ctA/ctT		1		1	NOS1AP	HGNC	HGNC:16859	protein_coding	YES	CCDS1237.1	ENSP00000355133	O75052		UPI000019C573	NM_014697.2			7/10		hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF39																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	162355311	162355311	A	T	1	0	0	0	0	0	0	0	1	10587	407	15	4		4	NOS1AP	1	162355311	Silent	SNP	A	C3N-01823_TP	2421053	162355311	86601111	24	27367											
MGST3	0	.	GRCh38	chr1	165649894	165649894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtgcttctaactggtgCtgccagctttataatggtgg	6	17	11	7	0	1	0	0	0	1	0	1	0	1	0	1	3	5	3	1	3	3	7	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.47C>T	p.Ala16Val	p.A16V	ENST00000367889	2/6	586	542	44	364	364	0	strelka-varscan-mutect	MGST3,missense_variant,p.Ala30Val,ENST00000627653,;MGST3,missense_variant,p.Ala16Val,ENST00000367889,NM_004528.3;MGST3,missense_variant,p.Ala16Val,ENST00000367888,;MGST3,missense_variant,p.Ala16Val,ENST00000367884,;MGST3,missense_variant,p.Ala30Val,ENST00000367883,;MGST3,missense_variant,p.Ala30Val,ENST00000367885,;MGST3,non_coding_transcript_exon_variant,,ENST00000477450,;MGST3,downstream_gene_variant,,ENST00000461759,;MGST3,non_coding_transcript_exon_variant,,ENST00000609263,;MGST3,non_coding_transcript_exon_variant,,ENST00000461308,;MGST3,non_coding_transcript_exon_variant,,ENST00000488688,;MGST3,non_coding_transcript_exon_variant,,ENST00000495447,;MGST3,upstream_gene_variant,,ENST00000494074,;	T	ENST00000367889	Transcript	missense_variant	487/1015	47/459	16/152	A/V	gCt/gTt		1		1	MGST3	HGNC	HGNC:7064	protein_coding	YES	CCDS1249.1	ENSP00000356864	O14880	A0A024R8Z1	UPI000012BC86	NM_004528.3	tolerated(1)		2/6		Gene3D:1.20.120.550,Pfam_domain:PF01124,hmmpanther:PTHR10250,hmmpanther:PTHR10250:SF17,Superfamily_domains:SSF161084,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	165649894	165649894	C	T	1	0	0	0	0	1	0	0	0	9519	797	28	3		3	MGST3	1	165649894	Missense_Mutation	SNP	C	C3N-01823_TP	3294583	165649894	83306528	25	27368											
PAPPA2	0	.	GRCh38	chr1	176740188	176740188	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgaggggcagaatcatcaGggacagaggtacaaacttcc	14	5	13	9	1	2	2	2	0	0	2	3	5	3	3	1	4	2	2	1	4	3	2			C3N-01823_TP	C3N-01823_NB	G	G																c.4143G>A	p.=	p.Q1381Q	ENST00000367662	14/23	375	279	96	236	236	0	strelka-varscan-mutect	PAPPA2,synonymous_variant,p.=,ENST00000367662,NM_020318.2;	A	ENST00000367662	Transcript	synonymous_variant	5307/9691	4143/5376	1381/1791	Q	caG/caA	COSM2094021,COSM5321695	1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2			14/23		hmmpanther:PTHR19325:SF1,hmmpanther:PTHR19325											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	83	176740188	176740188	G	A	1	0	0	0	0	0	0	0	1	11513	991	35	3		3	PAPPA2	1	176740188	Silent	SNP	G	C3N-01823_TP	11090294	176740188	72216234	26	27369											
AXDND1	0	.	GRCh38	chr1	179370020	179370020	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctggcatcaccctgttCgaaggaataaattcaaatac	14	11	7	9	1	3	0	2	0	1	0	4	2	3	1	1	2	1	2	1	2	6	4	rs577148644		C3N-01823_TP	C3N-01823_NB	C	C																c.316C>A	p.=	p.R106R	ENST00000367618	4/26	241	192	49	195	195	0	strelka-varscan-mutect	AXDND1,synonymous_variant,p.=,ENST00000367618,NM_144696.5;AXDND1,synonymous_variant,p.=,ENST00000617277,;AXDND1,synonymous_variant,p.=,ENST00000434088,;AXDND1,synonymous_variant,p.=,ENST00000509175,;AXDND1,synonymous_variant,p.=,ENST00000511889,;AXDND1,downstream_gene_variant,,ENST00000508229,;AXDND1,non_coding_transcript_exon_variant,,ENST00000461179,;AXDND1,non_coding_transcript_exon_variant,,ENST00000510593,;AXDND1,synonymous_variant,p.=,ENST00000511157,;AXDND1,non_coding_transcript_exon_variant,,ENST00000507383,;AXDND1,non_coding_transcript_exon_variant,,ENST00000508285,;	A	ENST00000367618	Transcript	synonymous_variant	703/3642	316/3039	106/1012	R	Cga/Aga	rs577148644,COSM2095301,COSM3984508,COSM5584522	1		1	AXDND1	HGNC	HGNC:26564	protein_coding	YES	CCDS30948.1	ENSP00000356590	Q5T1B0		UPI000022AC91	NM_144696.5			4/26		hmmpanther:PTHR23052											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs577148644	.												A	2	1	83	179370020	179370020	C	A	1	0	0	0	0	0	0	0	1	1392	876	31	1		1	AXDND1	1	179370020	Silent	SNP	C	C3N-01823_TP	2629832	179370020	69586402	27	27370											
TSEN15	0	.	GRCh38	chr1	184054803	184054803	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttggtactgagatagAaggggaggggttacagactg	10	10	16	5	0	0	3	0	1	0	3	0	5	0	4	1	5	2	3	1	5	4	5	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.293A>C	p.Glu98Ala	p.E98A	ENST00000361641	3/5	194	182	12	133	133	0	varscan-mutect	TSEN15,missense_variant,p.Glu98Ala,ENST00000361641,NM_001300764.1,NM_052965.3;TSEN15,missense_variant,p.Glu98Ala,ENST00000423085,NM_001127394.3;TSEN15,missense_variant,p.Glu98Ala,ENST00000533373,NM_001300766.1;TSEN15,missense_variant,p.Glu97Ala,ENST00000462677,;TSEN15,missense_variant,p.Glu98Ala,ENST00000485209,;TSEN15,non_coding_transcript_exon_variant,,ENST00000367518,;TSEN15,non_coding_transcript_exon_variant,,ENST00000457455,;	C	ENST00000361641	Transcript	missense_variant	372/1960	293/516	98/171	E/A	gAa/gCa		1		1	TSEN15	HGNC	HGNC:16791	protein_coding	YES	CCDS1361.1	ENSP00000355299	Q8WW01	B1ALV0	UPI00000722DC	NM_001300764.1,NM_052965.3	deleterious(0.05)		3/5		Pfam_domain:PF09631,hmmpanther:PTHR28582,hmmpanther:PTHR28582:SF1,Superfamily_domains:SSF53032																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	184054803	184054803	A	C	1	0	0	0	0	1	0	0	0	17117	246	9	5		5	TSEN15	1	184054803	Missense_Mutation	SNP	A	C3N-01823_TP	4684783	184054803	64901619	28	27371											
TPR	0	.	GRCh38	chr1	186347339	186347339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaactagtaaccattgcttGatattgttccacattgctcg	11	15	6	9	1	0	1	0	1	0	0	2	1	1	1	2	0	4	4	2	0	5	9			C3N-01823_TP	C3N-01823_NB	G	G																c.2896C>G	p.Gln966Glu	p.Q966E	ENST00000367478	22/51	196	181	15	128	128	0	strelka-varscan-mutect	TPR,missense_variant,p.Gln966Glu,ENST00000367478,NM_003292.2;TPR,downstream_gene_variant,,ENST00000474852,;TPR,upstream_gene_variant,,ENST00000481347,;TPR,downstream_gene_variant,,ENST00000491783,;TPR,downstream_gene_variant,,ENST00000469463,;	C	ENST00000367478	Transcript	missense_variant	3193/9708	2896/7092	966/2363	Q/E	Caa/Gaa	COSM1500264	1		-1	TPR	HGNC	HGNC:12017	protein_coding	YES	CCDS41446.1	ENSP00000356448	P12270		UPI000046FCF4	NM_003292.2	deleterious(0.02)		22/51		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18898											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	83	186347339	186347339	G	C	1	0	0	0	0	1	0	0	0	16897	1299	45	4		4	TPR	1	186347339	Missense_Mutation	SNP	G	C3N-01823_TP	2292536	186347339	62609083	29	27372											
F13B	0	.	GRCh38	chr1	197057022	197057022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatacataccaacacactCaggaggaagtgtccattttc	14	9	7	11	0	1	0	1	0	0	0	3	2	2	2	2	2	4	1	2	2	4	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1162G>A	p.Glu388Lys	p.E388K	ENST00000367412	7/12	362	268	94	273	273	0	strelka-varscan-mutect	F13B,missense_variant,p.Glu388Lys,ENST00000367412,NM_001994.2;	T	ENST00000367412	Transcript	missense_variant	1206/2217	1162/1986	388/661	E/K	Gag/Aag		1		-1	F13B	HGNC	HGNC:3534	protein_coding	YES	CCDS1388.1	ENSP00000356382	P05160		UPI000013D8E0	NM_001994.2	tolerated(0.7)		7/12		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF314,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		rs1280513811	.												T	3	4	83	197057022	197057022	C	T	1	0	0	0	0	1	0	0	0	5209	835	29	3		3	F13B	1	197057022	Missense_Mutation	SNP	C	C3N-01823_TP	10709683	197057022	51899400	30	27373											
DSTYK	0	.	GRCh38	chr1	205211521	205211521	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctcgctgccccatggcacCccgtcgccctccatcgcctc	3	7	9	22	4	0	0	0	0	0	0	5	0	1	0	7	2	1	3	7	2	0	0	rs759067934		C3N-01823_TP	C3N-01823_NB	C	C																c.15G>T	p.=	p.G5G	ENST00000367162	1/13	94	65	29	57	57	0	strelka-varscan-mutect	DSTYK,synonymous_variant,p.=,ENST00000367162,NM_015375.2;DSTYK,synonymous_variant,p.=,ENST00000367161,NM_199462.2;	A	ENST00000367162	Transcript	synonymous_variant	46/7874	15/2790	5/929	G	ggG/ggT	rs759067934	1		-1	DSTYK	HGNC	HGNC:29043	protein_coding	YES	CCDS1451.1	ENSP00000356130	Q6XUX3		UPI00001D7D39	NM_015375.2			1/13		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs759067934	.												A	2	1	83	205211521	205211521	C	A	1	0	0	0	0	0	0	0	1	4606	610	22	2		2	DSTYK	1	205211521	Silent	SNP	C	C3N-01823_TP	8154499	205211521	43744901	31	27374											
USH2A	0	.	GRCh38	chr1	215867076	215867076	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgagattggctcctctctCtggaagaccagctaacgttg	9	11	11	10	1	2	2	0	1	2	2	4	4	3	3	2	2	2	3	2	2	2	3			C3N-01823_TP	C3N-01823_NB	C	C																c.8776G>C	p.Glu2926Gln	p.E2926Q	ENST00000307340	44/72	399	378	21	228	228	0	strelka-varscan-mutect	USH2A,missense_variant,p.Glu2926Gln,ENST00000307340,NM_206933.2;	G	ENST00000307340	Transcript	missense_variant	9163/18883	8776/15609	2926/5202	E/Q	Gag/Cag	COSM3483487,COSM3483488	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	tolerated(0.44)		44/72		Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	83	215867076	215867076	C	G	1	0	0	0	0	1	0	0	0	17570	922	32	4		4	USH2A	1	215867076	Missense_Mutation	SNP	C	C3N-01823_TP	10655555	215867076	33089346	32	27375											
COG2	0	.	GRCh38	chr1	230687059	230687059	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaagtggtccttcggaaaCaaagcctgtggtttccattt	10	12	11	8	1	0	0	0	0	0	0	3	2	2	2	3	4	2	1	3	4	3	3			C3N-01823_TP	C3N-01823_NB	C	C																c.1505C>G	p.Thr502Arg	p.T502R	ENST00000366669	13/18	188	142	46	112	112	0	strelka-varscan-mutect	COG2,missense_variant,p.Thr443Arg,ENST00000534989,;COG2,missense_variant,p.Thr502Arg,ENST00000366669,NM_007357.2;COG2,missense_variant,p.Thr502Arg,ENST00000366668,NM_001145036.1;COG2,non_coding_transcript_exon_variant,,ENST00000482012,;COG2,upstream_gene_variant,,ENST00000490900,;COG2,upstream_gene_variant,,ENST00000478710,;COG2,3_prime_UTR_variant,,ENST00000468893,;COG2,downstream_gene_variant,,ENST00000494371,;	G	ENST00000366669	Transcript	missense_variant	1620/2921	1505/2217	502/738	T/R	aCa/aGa	COSM425561	1		1	COG2	HGNC	HGNC:6546	protein_coding	YES	CCDS1584.1	ENSP00000355629	Q14746	B1ALW7	UPI0000127E38	NM_007357.2	tolerated(0.31)		13/18		hmmpanther:PTHR12961											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	83	230687059	230687059	C	G	1	0	0	0	0	1	0	0	0	3446	478	17	4		4	COG2	1	230687059	Missense_Mutation	SNP	C	C3N-01823_TP	14819983	230687059	18269363	33	27376											
RYR2	0	.	GRCh38	chr1	237566764	237566764	+	Frame_Shift_Del	DEL	G	G	-																															atgaacgtgcctttgcctttGatggcttcaaggtgagtgga																								novel		C3N-01823_TP	C3N-01823_NB	G	G																c.3412delG	p.Asp1138MetfsTer31	p.D1138Mfs*31	ENST00000366574	28/105	201	145	56	149	149	0	sindel-varindel-pindel	RYR2,frameshift_variant,p.Asp1138MetfsTer31,ENST00000366574,NM_001035.2;RYR2,frameshift_variant,p.Asp1122MetfsTer31,ENST00000360064,;	-	ENST00000366574	Transcript	frameshift_variant	3729/16562	3412/14904	1138/4967	D/X	Gat/at		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			28/105		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,SMART_domains:SM00449,Superfamily_domains:SSF49899																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	83	237566764	237566764	G	-	1	0	1	0	1	0	0	0	0	14029	1290	45	0		0	RYR2	1	237566764	Frame_Shift_Del	DEL	G	C3N-01823_TP	6879705	237566764	11389658	34	27377											
FMN2	0	.	GRCh38	chr1	240207352	240207352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacgaacactctgtttcctCtgcctttaaaaacagctgta	11	12	5	13	1	2	0	0	0	2	0	3	1	3	0	3	0	4	3	3	0	5	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.2540C>T	p.Ser847Phe	p.S847F	ENST00000319653	5/18	547	409	138	338	337	1	strelka-varscan-mutect	FMN2,missense_variant,p.Ser847Phe,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;	T	ENST00000319653	Transcript	missense_variant	2770/6434	2540/5169	847/1722	S/F	tCt/tTt		1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4	deleterious_low_confidence(0.04)		5/18		SMART_domains:SM00498																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	83	240207352	240207352	C	T	1	0	0	0	0	1	0	0	0	5806	913	32	3		3	FMN2	1	240207352	Missense_Mutation	SNP	C	C3N-01823_TP	2640588	240207352	8749070	35	27378											
OR11L1	0	.	GRCh38	chr1	247841144	247841144	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggagatcatggtcccgtaGtagagagtgacaacagccag	13	7	13	8	1	1	3	1	1	0	2	2	5	2	3	2	2	2	2	2	2	3	2	rs777726488		C3N-01823_TP	C3N-01823_NB	G	G																c.753C>G	p.Tyr251Ter	p.Y251*	ENST00000355784	1/1	461	412	49	254	254	0	strelka-varscan-mutect	OR11L1,stop_gained,p.Tyr251Ter,ENST00000355784,NM_001001959.1;	C	ENST00000355784	Transcript	stop_gained	753/969	753/969	251/322	Y/*	taC/taG	rs777726488	1		-1	OR11L1	HGNC	HGNC:14998	protein_coding	YES	CCDS31098.1	ENSP00000348033	Q8NGX0		UPI0000061EBC	NM_001001959.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF295,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	HIGH	1	SNV				1										PASS		rs777726488	.												C	4	2	83	247841144	247841144	G	C	1	0	0	0	0	0	1	0	0	11007	1024	36	4		4	OR11L1	1	247841144	Nonsense_Mutation	SNP	G	C3N-01823_TP	7633792	247841144	1115278	36	27379											
TRIM58	0	.	GRCh38	chr1	247860665	247860665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaaagagttggaggacGccttgactcaggaggccaac	12	6	15	8	1	1	3	1	2	0	1	1	7	1	7	2	5	1	1	2	5	2	2	rs764514224		C3N-01823_TP	C3N-01823_NB	G	G																c.469G>T	p.Ala157Ser	p.A157S	ENST00000366481	2/6	276	226	50	195	195	0	strelka-varscan-mutect	TRIM58,missense_variant,p.Ala157Ser,ENST00000366481,NM_015431.3;	T	ENST00000366481	Transcript	missense_variant	517/3225	469/1461	157/486	A/S	Gcc/Tcc	rs764514224	1		1	TRIM58	HGNC	HGNC:24150	protein_coding	YES	CCDS1636.1	ENSP00000355437	Q8NG06		UPI000020590E	NM_015431.3	tolerated(0.06)		2/6		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF393																	MODERATE	1	SNV	1			1										PASS		rs764514224	.												T	3	4	83	247860665	247860665	G	T	1	0	0	0	0	1	0	0	0	17024	1087	38	1		1	TRIM58	1	247860665	Missense_Mutation	SNP	G	C3N-01823_TP	19521	247860665	1095757	37	27380											
OR2M7	0	.	GRCh38	chr1	248324204	248324204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcaaatggcagtgtagCggtcataagacataacagcc	13	7	13	8	1	1	1	1	0	0	1	1	1	1	1	1	4	3	3	1	4	4	3	rs543782719		C3N-01823_TP	C3N-01823_NB	C	C																c.365G>A	p.Arg122His	p.R122H	ENST00000317965	1/1	387	364	23	257	257	0	varscan-mutect	OR2M7,missense_variant,p.Arg122His,ENST00000317965,NM_001004691.1;	T	ENST00000317965	Transcript	missense_variant	365/939	365/939	122/312	R/H	cGc/cAc	rs543782719,COSM4837310	1		-1	OR2M7	HGNC	HGNC:19594	protein_coding	YES	CCDS31111.1	ENSP00000324557	Q8NG81	A0A126GVZ1	UPI000004B236	NM_001004691.1	deleterious(0.03)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF28,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237											0,1						MODERATE	1	SNV			0,1	1										PASS		rs543782719	.												T	3	4	83	248324204	248324204	C	T	1	0	0	0	0	1	0	0	0	11092	768	27	1		1	OR2M7	1	248324204	Missense_Mutation	SNP	C	C3N-01823_TP	463539	248324204	632218	38	27381											
OR2T1	0	.	GRCh38	chr1	248406541	248406541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgcaaccctctgagatacCctgtcctcatgagccgccgg	7	10	9	15	2	2	2	1	2	1	1	3	3	3	2	5	1	4	1	5	1	2	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.547C>A	p.Pro183Thr	p.P183T	ENST00000366474	1/1	280	254	26	153	153	0	strelka-varscan-mutect	OR2T1,missense_variant,p.Pro183Thr,ENST00000366474,NM_030904.1;	A	ENST00000366474	Transcript	missense_variant	547/1110	547/1110	183/369	P/T	Cct/Act		1		1	OR2T1	HGNC	HGNC:8277	protein_coding	YES	CCDS31115.1	ENSP00000355430	O43869	A0A126GVY3	UPI00003B2872	NM_030904.1	deleterious(0.03)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF125,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	83	248406541	248406541	C	A	1	0	0	0	0	1	0	0	0	11094	623	22	2		2	OR2T1	1	248406541	Missense_Mutation	SNP	C	C3N-01823_TP	82337	248406541	549881	39	27382											
OR14I1	0	.	GRCh38	chr1	248681785	248681785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggatgtcacggaagaactGgtggatcacactggatctgc	11	8	14	8	1	3	1	2	0	1	1	3	5	3	5	0	5	2	0	0	5	2	0	rs758759072		C3N-01823_TP	C3N-01823_NB	G	G																c.520C>A	p.Gln174Lys	p.Q174K	ENST00000342623	1/1	430	347	83	245	245	0	strelka-varscan-mutect	OR14I1,missense_variant,p.Gln174Lys,ENST00000342623,NM_001004734.1;	T	ENST00000342623	Transcript	missense_variant	520/936	520/936	174/311	Q/K	Cag/Aag	rs758759072	1		-1	OR14I1	HGNC	HGNC:19575	protein_coding	YES	CCDS31125.1	ENSP00000339726	A6ND48		UPI0000199BC9	NM_001004734.1	deleterious(0.03)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF316,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs758759072	.												T	3	4	83	248681785	248681785	G	T	1	0	0	0	0	1	0	0	0	11024	1357	47	2		2	OR14I1	1	248681785	Missense_Mutation	SNP	G	C3N-01823_TP	275244	248681785	274637	40	27383											
ATAD2B	0	.	GRCh38	chr2	23926730	23926730	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcccgggaccaggagacttgGacccgagaaggcggagagag	11	2	18	10	3	0	3	0	0	0	3	0	9	0	6	3	5	0	0	3	5	1	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.41C>G	p.Ser14Cys	p.S14C	ENST00000238789	1/28	202	184	18	107	107	0	strelka-varscan-mutect	ATAD2B,missense_variant,p.Ser14Cys,ENST00000238789,NM_017552.3,NM_001242338.2;ATAD2B,missense_variant,p.Ser14Cys,ENST00000439915,;UBXN2A,upstream_gene_variant,,ENST00000404924,;UBXN2A,upstream_gene_variant,,ENST00000446425,;	C	ENST00000238789	Transcript	missense_variant	385/8103	41/4377	14/1458	S/C	tCc/tGc		1		-1	ATAD2B	HGNC	HGNC:29230	protein_coding	YES	CCDS46227.1	ENSP00000238789	Q9ULI0		UPI00006C056C	NM_017552.3,NM_001242338.2	deleterious_low_confidence(0.01)		1/28		Low_complexity_(Seg):seg,hmmpanther:PTHR23069:SF5,hmmpanther:PTHR23069																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	83	23926730	23926730	G	C	1	0	0	0	0	1	0	0	0	1220	1174	41	4		4	ATAD2B	2	23926730	Missense_Mutation	SNP	G	C3N-01823_TP		23926730	218266799	41	27384											
KIF3C	0	.	GRCh38	chr2	25981491	25981491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagatctccaaataggaggCccggaccaggtactgttggt	10	9	13	9	1	1	1	0	0	1	1	2	3	1	3	3	5	1	3	3	5	4	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.427G>T	p.Ala143Ser	p.A143S	ENST00000264712	1/8	374	325	49	234	234	0	strelka-varscan-mutect	KIF3C,missense_variant,p.Ala143Ser,ENST00000264712,NM_002254.6;KIF3C,missense_variant,p.Ala143Ser,ENST00000405914,;KIF3C,missense_variant,p.Ala143Ser,ENST00000455394,;KIF3C,missense_variant,p.Ala143Ser,ENST00000417737,;KIF3C,upstream_gene_variant,,ENST00000475453,;	A	ENST00000264712	Transcript	missense_variant	1007/5344	427/2382	143/793	A/S	Gcc/Tcc		1		-1	KIF3C	HGNC	HGNC:6321	protein_coding	YES	CCDS1719.1	ENSP00000264712	O14782	A2RU78	UPI000012DDB2	NM_002254.6	tolerated(0.12)		1/8		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF531,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	25981491	25981491	C	A	1	0	0	0	0	1	0	0	0	8167	739	26	2		2	KIF3C	2	25981491	Missense_Mutation	SNP	C	C3N-01823_TP	2054761	25981491	216212038	42	27385											
OTOF	0	.	GRCh38	chr2	26516575	26516575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgccgtcagtggcctgatAccggacctccacgcacaggc	7	7	12	15	3	1	1	1	1	0	0	2	2	2	2	5	3	2	1	5	3	1	1	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.352T>C	p.Tyr118His	p.Y118H	ENST00000272371	5/47	521	474	47	302	301	1	strelka-varscan-mutect	OTOF,missense_variant,p.Tyr118His,ENST00000272371,NM_194248.2;OTOF,missense_variant,p.Tyr118His,ENST00000403946,NM_001287489.1;	G	ENST00000272371	Transcript	missense_variant	479/7156	352/5994	118/1997	Y/H	Tat/Cat		1		-1	OTOF	HGNC	HGNC:8515	protein_coding	YES	CCDS1725.1	ENSP00000272371	Q9HC10		UPI000013D94D	NM_194248.2	deleterious(0)		5/47		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	83	26516575	26516575	A	G	1	0	0	0	0	1	0	0	0	11369	391	14	5		5	OTOF	2	26516575	Missense_Mutation	SNP	A	C3N-01823_TP	535084	26516575	215676954	43	27386											
ALK	0	.	GRCh38	chr2	29225486	29225486	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgatgccggagaaagccagGaccagggcggccacgagggc	11	2	17	11	3	0	2	0	1	0	1	0	5	0	3	4	5	2	0	4	5	1	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.3147C>A	p.=	p.V1049V	ENST00000389048	19/29	413	339	74	276	276	0	strelka-varscan-mutect	ALK,synonymous_variant,p.=,ENST00000389048,NM_004304.4;ALK,synonymous_variant,p.=,ENST00000618119,;ALK,upstream_gene_variant,,ENST00000431873,;ALK,upstream_gene_variant,,ENST00000453137,;	T	ENST00000389048	Transcript	synonymous_variant	4054/6220	3147/4863	1049/1620	V	gtC/gtA		1		-1	ALK	HGNC	HGNC:427	protein_coding	YES	CCDS33172.1	ENSP00000373700	Q9UM73		UPI00001684DA	NM_004304.4			19/29		Low_complexity_(Seg):seg,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF276																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	29225486	29225486	G	T	1	0	0	0	0	0	0	0	1	625	1161	41	2		2	ALK	2	29225486	Silent	SNP	G	C3N-01823_TP	2708911	29225486	212968043	44	27387											
SPAST	0	.	GRCh38	chr2	32136888	32136888	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctctagatgaagttgatAgccttttgtgtgaaagaaga	12	14	10	5	0	1	6	0	3	1	3	2	6	2	6	2	0	1	1	2	0	5	6	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.1333A>T	p.Ser445Cys	p.S445C	ENST00000615843	11/17	344	279	65	249	248	1	strelka-varscan-mutect	SPAST,missense_variant,p.Ser445Cys,ENST00000615843,NM_014946.3;SPAST,missense_variant,p.Ser445Cys,ENST00000315285,;SPAST,missense_variant,p.Ser413Cys,ENST00000345662,NM_199436.1;SPAST,missense_variant,p.Ser359Cys,ENST00000621856,;	T	ENST00000615843	Transcript	missense_variant	1554/5212	1333/1851	445/616	S/C	Agc/Tgc		1		1	SPAST	HGNC	HGNC:11233	protein_coding	YES	CCDS1778.1	ENSP00000480893	Q9UBP0	E5KRP5	UPI0000038A6B	NM_014946.3	deleterious(0)		11/17		Gene3D:3.40.50.300,HAMAP:MF_03021,Pfam_domain:PF00004,PIRSF_domain:PIRSF037338,hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF86,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	32136888	32136888	A	T	1	0	0	0	0	1	0	0	0	15328	420	15	4		4	SPAST	2	32136888	Missense_Mutation	SNP	A	C3N-01823_TP	2911402	32136888	210056641	45	27388											
PRKD3	0	.	GRCh38	chr2	37290926	37290926	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctcaccacagtaatcacaGaaagtaggagctttgtaaga	16	9	8	8	0	2	2	2	0	1	2	3	3	2	3	1	1	1	4	1	1	4	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.501C>G	p.Phe167Leu	p.F167L	ENST00000379066	4/19	217	204	13	175	175	0	strelka-varscan-mutect	PRKD3,missense_variant,p.Phe167Leu,ENST00000379066,;PRKD3,missense_variant,p.Phe167Leu,ENST00000234179,NM_005813.4;PRKD3,missense_variant,p.Phe63Leu,ENST00000443187,;PRKD3,non_coding_transcript_exon_variant,,ENST00000494667,;PRKD3,non_coding_transcript_exon_variant,,ENST00000475912,;PRKD3,downstream_gene_variant,,ENST00000464552,;	C	ENST00000379066	Transcript	missense_variant	1264/6111	501/2673	167/890	F/L	ttC/ttG		1		-1	PRKD3	HGNC	HGNC:9408	protein_coding	YES	CCDS1789.1	ENSP00000368356	O94806		UPI0000035B4D		deleterious(0)		4/19		Gene3D:3.30.60.20,Pfam_domain:PF00130,PIRSF_domain:PIRSF000552,PROSITE_patterns:PS00479,PROSITE_profiles:PS50081,hmmpanther:PTHR22968,hmmpanther:PTHR22968:SF11,SMART_domains:SM00109,Superfamily_domains:SSF57889																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	83	37290926	37290926	G	C	1	0	0	0	0	1	0	0	0	12653	933	33	4		4	PRKD3	2	37290926	Missense_Mutation	SNP	G	C3N-01823_TP	5154038	37290926	204902603	46	27389											
LRPPRC	0	.	GRCh38	chr2	43918329	43918329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatcttaatgtcttttcaCgaggaataacattttcttct	12	18	4	7	1	5	0	1	0	4	0	5	2	5	1	0	1	1	0	0	1	4	8	rs774857058		C3N-01823_TP	C3N-01823_NB	C	C																c.2966G>T	p.Arg989Leu	p.R989L	ENST00000260665	28/38	363	318	45	268	268	0	strelka-varscan-mutect	LRPPRC,missense_variant,p.Arg989Leu,ENST00000260665,NM_133259.3;	A	ENST00000260665	Transcript	missense_variant	3024/6335	2966/4185	989/1394	R/L	cGt/cTt	rs774857058	1		-1	LRPPRC	HGNC	HGNC:15714	protein_coding	YES	CCDS33189.1	ENSP00000260665	P42704	E5KNY5	UPI000019B4D2	NM_133259.3	deleterious(0)		28/38		hmmpanther:PTHR24015,hmmpanther:PTHR24015:SF187										likely_pathogenic							MODERATE	1	SNV	1		1	1										PASS		rs774857058	.												A	3	1	83	43918329	43918329	C	A	1	0	0	0	0	1	0	0	0	8860	536	19	1		1	LRPPRC	2	43918329	Missense_Mutation	SNP	C	C3N-01823_TP	6627403	43918329	198275200	47	27390											
SLC3A1	0	.	GRCh38	chr2	44281462	44281462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaattgagtcggacacGgacaggaaaatatactgatt	14	11	10	6	2	1	2	1	2	0	0	2	5	1	5	0	3	1	1	0	3	5	5	rs138395881		C3N-01823_TP	C3N-01823_NB	G	G																c.686G>A	p.Arg229Gln	p.R229Q	ENST00000260649	3/10	443	368	75	316	315	1	strelka-varscan-mutect	SLC3A1,missense_variant,p.Arg229Gln,ENST00000260649,NM_000341.3;SLC3A1,missense_variant,p.Arg229Gln,ENST00000409229,;SLC3A1,missense_variant,p.Arg229Gln,ENST00000409387,;SLC3A1,missense_variant,p.Arg229Gln,ENST00000611973,;SLC3A1,missense_variant,p.Arg229Gln,ENST00000409741,;SLC3A1,missense_variant,p.Arg229Gln,ENST00000410056,;SLC3A1,upstream_gene_variant,,ENST00000409380,;SLC3A1,upstream_gene_variant,,ENST00000427285,;	A	ENST00000260649	Transcript	missense_variant	762/2989	686/2058	229/685	R/Q	cGg/cAg	rs138395881,COSM1161355,COSM373621	1		1	SLC3A1	HGNC	HGNC:11025	protein_coding	YES	CCDS1819.1	ENSP00000260649	Q07837	A0A0S2Z4E1	UPI000013D0F2	NM_000341.3	tolerated(0.15)		3/10		Gene3D:3.90.400.10,Pfam_domain:PF00128,hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF73,SMART_domains:SM00642,Superfamily_domains:SSF51445											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs138395881	.												A	3	1	83	44281462	44281462	G	A	1	0	0	0	0	1	0	0	0	14904	1116	39	1		1	SLC3A1	2	44281462	Missense_Mutation	SNP	G	C3N-01823_TP	363133	44281462	197912067	48	27391											
SRBD1	0	.	GRCh38	chr2	45393107	45393110	+	Frame_Shift_Del	DEL	TCCC	TCCC	-																															ctttccaacctcatacagtgTccctccaatggatgacaaaa																								novel		C3N-01823_TP	C3N-01823_NB	TCCC	TCCC																c.2533_2536delGGGA	p.Gly845HisfsTer14	p.G845Hfs*14	ENST00000263736	20/21	77	64	13	61	61	0	sindel-varindel-pindel	SRBD1,frameshift_variant,p.Gly845HisfsTer14,ENST00000263736,NM_018079.4;SRBD1,non_coding_transcript_exon_variant,,ENST00000490133,;	-	ENST00000263736	Transcript	frameshift_variant	2596-2599/3681	2533-2536/2988	845-846/995	GT/X	GGGAca/ca		1		-1	SRBD1	HGNC	HGNC:25521	protein_coding	YES	CCDS1823.1	ENSP00000263736	Q8N5C6		UPI000004CC06	NM_018079.4			20/21		Gene3D:3bzcA04,hmmpanther:PTHR10724,hmmpanther:PTHR10724:SF1,Superfamily_domains:SSF47781																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	83	45393107	45393107	TCCC	-	1	0	1	0	1	0	0	0	0	15491	1667	58	0		0	SRBD1	2	45393107	Frame_Shift_Del	DEL	TCCC	C3N-01823_TP	1111645	45393107	196800422	49	27392											
NRXN1	0	.	GRCh38	chr2	50506606	50506606	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagccagcaaaaagagtctCgggacctttgcctgtagaat	13	9	10	9	1	1	2	0	0	1	2	2	3	1	3	3	1	3	2	3	1	5	3			C3N-01823_TP	C3N-01823_NB	C	C																c.2506G>T	p.Glu836Ter	p.E836*	ENST00000404971	14/24	204	188	16	136	136	0	strelka-varscan-mutect	NRXN1,stop_gained,p.Glu796Ter,ENST00000406316,NM_004801.4;NRXN1,stop_gained,p.Glu788Ter,ENST00000625672,;NRXN1,stop_gained,p.Glu836Ter,ENST00000404971,NM_001135659.1;NRXN1,stop_gained,p.Glu796Ter,ENST00000401669,;NRXN1,stop_gained,p.Glu784Ter,ENST00000405472,;NRXN1,stop_gained,p.Glu788Ter,ENST00000630543,;NRXN1,stop_gained,p.Glu526Ter,ENST00000406859,;NRXN1,stop_gained,p.Glu511Ter,ENST00000402717,;NRXN1,intron_variant,,ENST00000495871,;NRXN1,non_coding_transcript_exon_variant,,ENST00000636298,;NRXN1,non_coding_transcript_exon_variant,,ENST00000636342,;NRXN1,stop_gained,p.Glu514Ter,ENST00000331040,;NRXN1,non_coding_transcript_exon_variant,,ENST00000474354,;NRXN1,non_coding_transcript_exon_variant,,ENST00000462791,;	A	ENST00000404971	Transcript	stop_gained	3846/7578	2506/4644	836/1547	E/*	Gag/Tag	COSM1149135,COSM1306847,COSM1306848,COSM1306849,COSM4812491,COSM4859684,COSM721588,COSM721589	1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1			14/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899											1,1,1,1,1,1,1,1						HIGH	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs1285800435	.												A	4	1	83	50506606	50506606	C	A	1	0	0	0	0	0	1	0	0	10724	893	31	1		1	NRXN1	2	50506606	Nonsense_Mutation	SNP	C	C3N-01823_TP	5113499	50506606	191686923	50	27393											
XPO1	0	.	GRCh38	chr2	61492037	61492042	+	In_Frame_Del	DEL	GTTGAG	GTTGAG	-																															gctcagtgcttaacatacctGttgaggctgaagatcacaaa																								novel		C3N-01823_TP	C3N-01823_NB	GTTGAG	GTTGAG																c.1880_1885delCTCAAC	p.Pro627_Gln628del	p.P627_Q628del	ENST00000401558	16/25	163	154	9	124	124	0	sindel-varindel-pindel	XPO1,inframe_deletion,p.Pro627_Gln628del,ENST00000401558,NM_003400.3;XPO1,inframe_deletion,p.Pro627_Gln628del,ENST00000404992,;XPO1,inframe_deletion,p.Pro627_Gln628del,ENST00000406957,;XPO1,upstream_gene_variant,,ENST00000494468,;XPO1,splice_region_variant,,ENST00000428210,;XPO1,splice_region_variant,,ENST00000481073,;XPO1,upstream_gene_variant,,ENST00000461407,;XPO1,downstream_gene_variant,,ENST00000460037,;XPO1,downstream_gene_variant,,ENST00000469337,;XPO1,downstream_gene_variant,,ENST00000437159,;XPO1,downstream_gene_variant,,ENST00000475744,;	-	ENST00000401558	Transcript	inframe_deletion,splice_region_variant	2608-2613/4915	1880-1885/3216	627-629/1071	PQQ/Q	cCTCAACag/cag		1		-1	XPO1	HGNC	HGNC:12825	protein_coding	YES	CCDS33205.1	ENSP00000384863	O14980		UPI0000001C23	NM_003400.3			16/25		hmmpanther:PTHR11223,hmmpanther:PTHR11223:SF4,Superfamily_domains:SSF48371																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	83	61492037	61492037	GTTGAG	-	1	0	1	0	1	0	0	0	0	18004	1391	48	0		0	XPO1	2	61492037	In_Frame_Del	DEL	GTTGAG	C3N-01823_TP	10985431	61492037	180701492	51	27394											
EGR4	0	.	GRCh38	chr2	73293523	73293523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctcgggcggcggctcctCgcctctccaaagcgctgccg	3	6	14	18	6	1	0	0	0	1	0	5	0	2	0	5	4	2	2	5	4	1	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.104G>A	p.Arg35Gln	p.R35Q	ENST00000545030	1/2	197	182	15	97	97	0	strelka-varscan-mutect	EGR4,missense_variant,p.Arg35Gln,ENST00000545030,NM_001965.3;EGR4,5_prime_UTR_variant,,ENST00000436467,;	T	ENST00000545030	Transcript	missense_variant	179/2372	104/1770	35/589	R/Q	cGa/cAa		1		-1	EGR4	HGNC	HGNC:3241	protein_coding	YES	CCDS1925.2	ENSP00000445626	Q05215		UPI0000EE25D4	NM_001965.3	tolerated_low_confidence(0.08)		1/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1269222518	.												T	3	4	83	73293523	73293523	C	T	1	0	0	0	0	1	0	0	0	4810	884	31	1		1	EGR4	2	73293523	Missense_Mutation	SNP	C	C3N-01823_TP	11801486	73293523	168900006	52	27395											
C2orf81	0	.	GRCh38	chr2	74414607	74414607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagaccctgtggaggcaCgcgggtccggccagcccaca	7	4	13	17	3	0	1	0	0	0	1	2	2	2	2	5	4	1	1	5	4	0	0	rs375005972		C3N-01823_TP	C3N-01823_NB	C	C																c.1489G>T	p.Val497Leu	p.V497L	ENST00000290390	4/4	84	73	11	48	48	0	strelka-varscan-mutect	C2orf81,missense_variant,p.Val497Leu,ENST00000290390,NM_001145054.1;C2orf81,missense_variant,p.Val491Leu,ENST00000612891,;C2orf81,missense_variant,p.Val429Leu,ENST00000517883,;AC005041.11,upstream_gene_variant,,ENST00000448783,;HMGA1P8,downstream_gene_variant,,ENST00000414130,;	A	ENST00000290390	Transcript	missense_variant	1798/2227	1489/1767	497/588	V/L	Gtg/Ttg	rs375005972	1		-1	C2orf81	HGNC	HGNC:34350	protein_coding	YES		ENSP00000290390		G3XAA6	UPI0000EE2496	NM_001145054.1	tolerated(0.13)		4/4		hmmpanther:PTHR34438,Pfam_domain:PF15479																	MODERATE	1	SNV	5			1										PASS		rs375005972	.												A	3	1	83	74414607	74414607	C	A	1	0	0	0	0	1	0	0	0	2052	536	19	1		1	C2orf81	2	74414607	Missense_Mutation	SNP	C	C3N-01823_TP	1121084	74414607	167778922	53	27396											
MARCO	0	.	GRCh38	chr2	118992468	118992468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagtaaagggagaaaaagGtgaaagaggtaatcactatt	19	7	13	2	0	1	3	1	1	0	2	1	5	1	4	0	4	0	2	0	4	7	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1244G>T	p.Gly415Val	p.G415V	ENST00000327097	15/17	217	172	45	126	126	0	strelka-varscan-mutect	MARCO,missense_variant,p.Gly415Val,ENST00000327097,NM_006770.3;MARCO,upstream_gene_variant,,ENST00000494979,;	T	ENST00000327097	Transcript	missense_variant	1379/1838	1244/1563	415/520	G/V	gGt/gTt		1		1	MARCO	HGNC	HGNC:6895	protein_coding	YES	CCDS2124.1	ENSP00000318916	Q9UEW3	Q4ZG40	UPI0000000DF8	NM_006770.3	deleterious(0)		15/17		hmmpanther:PTHR24023:SF525,hmmpanther:PTHR24023,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	118992468	118992468	G	T	1	0	0	0	0	1	0	0	0	9236	1261	44	2		2	MARCO	2	118992468	Missense_Mutation	SNP	G	C3N-01823_TP	44577861	118992468	123201061	54	27397											
MYO7B	0	.	GRCh38	chr2	127584820	127584820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctgaacagcgtccatGccaacaacaaggccttccta	15	6	7	13	1	0	1	0	1	0	0	2	1	2	1	4	1	6	1	4	1	7	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1597G>T	p.Ala533Ser	p.A533S	ENST00000428314	14/47	347	291	56	206	206	0	strelka-varscan-mutect	MYO7B,missense_variant,p.Ala533Ser,ENST00000428314,NM_001080527.1;MYO7B,missense_variant,p.Ala533Ser,ENST00000409816,;	T	ENST00000428314	Transcript	missense_variant	1650/6715	1597/6351	533/2116	A/S	Gcc/Tcc		1		1	MYO7B	HGNC	HGNC:7607	protein_coding	YES	CCDS46405.1	ENSP00000415090	Q6PIF6		UPI00006C04F0	NM_001080527.1	tolerated(0.59)		14/47		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF505,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	83	127584820	127584820	G	T	1	0	0	0	0	1	0	0	0	10084	1319	46	2		2	MYO7B	2	127584820	Missense_Mutation	SNP	G	C3N-01823_TP	8592352	127584820	114608709	55	27398											
POTEJ	0	.	GRCh38	chr2	130657706	130657706	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcagaaggagatcgctgcCctggcgcctagcatgatgaa	11	7	13	10	2	0	4	0	2	0	2	1	5	0	4	2	2	3	3	2	2	3	1	rs748769597		C3N-01823_TP	C3N-01823_NB	C	C																c.2946C>A	p.=	p.A982A	ENST00000409602	15/15	240	210	30	114	114	0	varscan-mutect	POTEJ,synonymous_variant,p.=,ENST00000409602,NM_001277083.1;	A	ENST00000409602	Transcript	synonymous_variant	2998/3383	2946/3117	982/1038	A	gcC/gcA	rs748769597	1		1	POTEJ	HGNC	HGNC:37094	protein_coding	YES	CCDS59432.1	ENSP00000387176	P0CG39		UPI0000DD7A4B	NM_001277083.1			15/15		Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067																	LOW	1	SNV	5			1										PASS		rs748769597	.												A	2	1	83	130657706	130657706	C	A	1	0	0	0	0	0	0	0	1	12383	610	22	2		2	POTEJ	2	130657706	Silent	SNP	C	C3N-01823_TP	3072886	130657706	111535823	56	27399											
POTEE	0	.	GRCh38	chr2	131264359	131264359	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagccttgcttcctgggCatggaatcctgtggcatcca	6	12	10	13	0	0	0	0	0	0	0	4	1	4	1	5	3	2	3	5	3	1	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.2904C>A	p.=	p.G968G	ENST00000356920	15/15	535	481	54	317	317	0	varscan-mutect	POTEE,synonymous_variant,p.=,ENST00000356920,NM_001083538.1;PLEKHB2,intron_variant,,ENST00000404460,;POTEE,downstream_gene_variant,,ENST00000626191,;POTEE,downstream_gene_variant,,ENST00000613282,;POTEE,downstream_gene_variant,,ENST00000358087,;POTEE,downstream_gene_variant,,ENST00000514256,;	A	ENST00000356920	Transcript	synonymous_variant	3240/4159	2904/3228	968/1075	G	ggC/ggA		1		1	POTEE	HGNC	HGNC:33895	protein_coding	YES	CCDS46414.1	ENSP00000439189	Q6S8J3		UPI0000F58EC8	NM_001083538.1			15/15		Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067																	LOW	1	SNV	1			1										PASS		rs1243878586	.												A	2	1	83	131264359	131264359	C	A	1	0	0	0	0	0	0	0	1	12378	697	25	2		2	POTEE	2	131264359	Silent	SNP	C	C3N-01823_TP	606653	131264359	110929170	57	27400											
LRP1B	0	.	GRCh38	chr2	141055226	141055226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaacagccccctggcattCcatatggatcgacttcacat	10	10	8	13	1	1	1	1	1	0	0	3	3	2	2	3	2	2	1	3	2	2	3	rs867777706		C3N-01823_TP	C3N-01823_NB	C	C																c.1442G>T	p.Gly481Val	p.G481V	ENST00000389484	10/91	194	183	11	182	182	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Gly481Val,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	A	ENST00000389484	Transcript	missense_variant	2414/16535	1442/13800	481/4599	G/V	gGa/gTa	rs867777706	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0)		10/91		Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		rs867777706	.												A	3	1	83	141055226	141055226	C	A	1	0	0	0	0	1	0	0	0	8850	855	30	2		2	LRP1B	2	141055226	Missense_Mutation	SNP	C	C3N-01823_TP	9790867	141055226	101138303	58	27401											
ARHGAP15	0	.	GRCh38	chr2	143624186	143624186	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacatccacgttgtcaccGgagcactgaagatgtttttc	10	11	10	10	2	1	2	1	1	0	1	3	4	2	4	2	2	1	3	2	2	1	3			C3N-01823_TP	C3N-01823_NB	G	G																c.1057G>C	p.Gly353Arg	p.G353R	ENST00000295095	12/14	209	193	16	148	148	0	strelka-varscan-mutect	ARHGAP15,missense_variant,p.Gly353Arg,ENST00000295095,NM_018460.3;ARHGAP15,3_prime_UTR_variant,,ENST00000419455,;ARHGAP15,non_coding_transcript_exon_variant,,ENST00000549436,;	C	ENST00000295095	Transcript	missense_variant	1224/1775	1057/1428	353/475	G/R	Gga/Cga	COSM1235873,COSM3295712	1		1	ARHGAP15	HGNC	HGNC:21030	protein_coding	YES	CCDS2184.1	ENSP00000295095	Q53QZ3		UPI0000035D98	NM_018460.3	deleterious(0)		12/14		PROSITE_profiles:PS50238,hmmpanther:PTHR23181,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1416890324	.												C	3	2	83	143624186	143624186	G	C	1	0	0	0	0	1	0	0	0	990	1117	39	4		4	ARHGAP15	2	143624186	Missense_Mutation	SNP	G	C3N-01823_TP	2568960	143624186	98569343	59	27402											
EPC2	0	.	GRCh38	chr2	148784788	148784788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacttaatcccagcattgtGcacaagcagtcctcagacac	12	8	6	15	0	1	1	1	0	0	1	3	1	3	1	3	0	3	3	3	0	2	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2138G>T	p.Cys713Phe	p.C713F	ENST00000258484	13/14	248	219	29	158	157	1	strelka-varscan-mutect	EPC2,missense_variant,p.Cys713Phe,ENST00000258484,NM_015630.3;	T	ENST00000258484	Transcript	missense_variant	2172/3649	2138/2424	713/807	C/F	tGc/tTc		1		1	EPC2	HGNC	HGNC:24543	protein_coding	YES	CCDS46422.1	ENSP00000258484	Q52LR7		UPI00005A7FE2	NM_015630.3	tolerated(0.45)		13/14		Pfam_domain:PF06752,hmmpanther:PTHR14898,hmmpanther:PTHR14898:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	148784788	148784788	G	T	1	0	0	0	0	1	0	0	0	5007	1319	46	2		2	EPC2	2	148784788	Missense_Mutation	SNP	G	C3N-01823_TP	5160602	148784788	93408741	60	27403											
PKP4	0	.	GRCh38	chr2	158661402	158661402	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggggctggtagactcactGttgtatgtgatccacacgtg	8	11	14	8	1	1	2	1	1	0	1	2	3	2	2	1	3	0	4	1	3	2	3	rs757024469		C3N-01823_TP	C3N-01823_NB	G	G																c.2163G>T	p.=	p.L721L	ENST00000389759	13/22	290	263	27	220	220	0	strelka-varscan-mutect	PKP4,synonymous_variant,p.=,ENST00000389757,NM_001005476.2;PKP4,synonymous_variant,p.=,ENST00000389759,NM_001304970.1,NM_003628.4,NM_001304969.1;PKP4,synonymous_variant,p.=,ENST00000628904,;AC005042.4,non_coding_transcript_exon_variant,,ENST00000342892,;PKP4,upstream_gene_variant,,ENST00000495123,;PKP4,3_prime_UTR_variant,,ENST00000426248,;PKP4,3_prime_UTR_variant,,ENST00000421462,;PKP4,3_prime_UTR_variant,,ENST00000452162,;PKP4,non_coding_transcript_exon_variant,,ENST00000492496,;PKP4,upstream_gene_variant,,ENST00000480171,;PKP4,upstream_gene_variant,,ENST00000483881,;	T	ENST00000389759	Transcript	synonymous_variant	2275/4443	2163/3579	721/1192	L	ctG/ctT	rs757024469	1		1	PKP4	HGNC	HGNC:9026	protein_coding	YES	CCDS33305.1	ENSP00000374409	Q99569		UPI000044D379	NM_001304970.1,NM_003628.4,NM_001304969.1			13/22		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF8,SMART_domains:SM00185,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		rs757024469	.												T	2	4	83	158661402	158661402	G	T	1	0	0	0	0	0	0	0	1	12083	1364	48	2		2	PKP4	2	158661402	Silent	SNP	G	C3N-01823_TP	9876614	158661402	83532127	61	27404											
TANC1	0	.	GRCh38	chr2	159178671	159178671	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgcacagcagccaggAcatcctcagcaacatctccc	11	5	9	16	0	2	0	1	0	1	0	4	1	3	1	3	2	5	3	3	2	1	0	rs867985244		C3N-01823_TP	C3N-01823_NB	A	A																c.2018A>G	p.Asp673Gly	p.D673G	ENST00000263635	14/27	206	188	18	139	139	0	strelka-varscan-mutect	TANC1,missense_variant,p.Asp673Gly,ENST00000263635,NM_033394.2,NM_001145909.1;TANC1,intron_variant,,ENST00000454300,;	G	ENST00000263635	Transcript	missense_variant	2255/7470	2018/5586	673/1861	D/G	gAc/gGc	rs867985244	1		1	TANC1	HGNC	HGNC:29364	protein_coding	YES	CCDS42766.1	ENSP00000263635	Q9C0D5		UPI0000421D80	NM_033394.2,NM_001145909.1	tolerated(0.06)		14/27		hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF23																	MODERATE	1	SNV	5			1										PASS		rs867985244	.												G	3	3	83	159178671	159178671	A	G	1	0	0	0	0	1	0	0	0	15941	275	10	5		5	TANC1	2	159178671	Missense_Mutation	SNP	A	C3N-01823_TP	517269	159178671	83014858	62	27405											
TBR1	0	.	GRCh38	chr2	161416533	161416533	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgatcatcccattatctcGaccactgacaacctggagag	12	8	7	14	2	2	2	1	1	1	1	4	5	3	2	3	1	1	0	3	1	2	1			C3N-01823_TP	C3N-01823_NB	G	G																c.123G>T	p.=	p.S41S	ENST00000389554	1/6	258	231	27	160	160	0	strelka-varscan-mutect	TBR1,synonymous_variant,p.=,ENST00000389554,NM_006593.2;PSMD14,downstream_gene_variant,,ENST00000409682,NM_005805.5;TBR1,upstream_gene_variant,,ENST00000410035,;TBR1,upstream_gene_variant,,ENST00000411412,;TBR1,upstream_gene_variant,,ENST00000489530,;TBR1,upstream_gene_variant,,ENST00000477804,;TBR1,non_coding_transcript_exon_variant,,ENST00000463544,;PSMD14,downstream_gene_variant,,ENST00000477232,;PSMD14,downstream_gene_variant,,ENST00000492908,;	T	ENST00000389554	Transcript	synonymous_variant	440/4009	123/2049	41/682	S	tcG/tcT	COSM3568381	1		1	TBR1	HGNC	HGNC:11590	protein_coding	YES	CCDS33310.1	ENSP00000374205	Q16650		UPI0000136A99	NM_006593.2			1/6		hmmpanther:PTHR11267:SF88,hmmpanther:PTHR11267											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	83	161416533	161416533	G	T	1	0	0	0	0	0	0	0	1	16052	1045	37	1		1	TBR1	2	161416533	Silent	SNP	G	C3N-01823_TP	2237862	161416533	80776996	63	27406											
FIGN	0	.	GRCh38	chr2	163610797	163610797	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcattctgtacataggactCtgtgtagatctctgttggcc	7	14	11	9	0	3	1	0	0	3	1	4	2	3	2	1	3	1	4	1	3	3	5	rs775365473		C3N-01823_TP	C3N-01823_NB	C	C																c.1035G>C	p.Gln345His	p.Q345H	ENST00000333129	3/3	252	237	15	160	160	0	strelka-varscan-mutect	FIGN,missense_variant,p.Gln345His,ENST00000333129,NM_018086.2;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,;	G	ENST00000333129	Transcript	missense_variant	1350/9536	1035/2280	345/759	Q/H	caG/caC	rs775365473,COSM4519935	1		-1	FIGN	HGNC	HGNC:13285	protein_coding	YES	CCDS2221.2	ENSP00000333836	Q5HY92		UPI000022BD13	NM_018086.2	tolerated(0.14)		3/3		hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF14											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs775365473	.												G	3	3	83	163610797	163610797	C	G	1	0	0	0	0	1	0	0	0	5755	912	32	4		4	FIGN	2	163610797	Missense_Mutation	SNP	C	C3N-01823_TP	2194264	163610797	78582732	64	27407											
LRP2	0	.	GRCh38	chr2	169216275	169216275	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcttccagtgactgccCagtagagtttctgctcttcg	5	14	8	14	1	3	2	0	1	3	1	6	2	5	2	3	0	2	3	3	0	1	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.5804G>T	p.Trp1935Leu	p.W1935L	ENST00000263816	35/79	563	492	71	413	412	1	strelka-varscan-mutect	LRP2,missense_variant,p.Trp1935Leu,ENST00000263816,NM_004525.2;	A	ENST00000263816	Transcript	missense_variant	6090/15808	5804/13968	1935/4655	W/L	tGg/tTg		1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2	deleterious(0)		35/79		Gene3D:2.120.10.30,PROSITE_profiles:PS51120,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	169216275	169216275	C	A	1	0	0	0	0	1	0	0	0	8851	595	21	2		2	LRP2	2	169216275	Missense_Mutation	SNP	C	C3N-01823_TP	5605478	169216275	72977254	65	27408											
SP9	0	.	GRCh38	chr2	174336458	174336458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggccggggtgtccccgCaggaggcgggtggccagtcg	4	4	20	13	5	0	0	0	0	0	0	2	1	1	1	4	7	1	1	4	7	0	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.373C>A	p.Gln125Lys	p.Q125K	ENST00000394967	2/2	117	104	13	71	71	0	strelka-varscan-mutect	SP9,missense_variant,p.Gln125Lys,ENST00000394967,NM_001145250.1;RP11-572N21.1,non_coding_transcript_exon_variant,,ENST00000624790,;	A	ENST00000394967	Transcript	missense_variant	520/2554	373/1455	125/484	Q/K	Cag/Aag		1		1	SP9	HGNC	HGNC:30690	protein_coding	YES	CCDS46453.1	ENSP00000378418	P0CG40		UPI0000EE2E67	NM_001145250.1	tolerated(0.11)		2/2																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	83	174336458	174336458	C	A	1	0	0	0	0	1	0	0	0	15297	711	25	2		2	SP9	2	174336458	Missense_Mutation	SNP	C	C3N-01823_TP	5120183	174336458	67857071	66	27409											
CHRNA1	0	.	GRCh38	chr2	174754221	174754221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatgtggccaccacctaccgGgttgatggccacgacagagc	9	7	12	13	2	0	2	0	1	0	1	0	3	0	2	5	3	2	1	5	3	2	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.613C>T	p.Pro205Ser	p.P205S	ENST00000261007	6/10	389	330	59	214	214	0	strelka-varscan-mutect	CHRNA1,missense_variant,p.Pro180Ser,ENST00000348749,NM_000079.3;CHRNA1,missense_variant,p.Pro205Ser,ENST00000261007,NM_001039523.2;CHRNA1,missense_variant,p.Pro193Ser,ENST00000636168,;CHRNA1,missense_variant,p.Pro180Ser,ENST00000409323,;CHRNA1,missense_variant,p.Pro180Ser,ENST00000409219,;CHRNA1,missense_variant,p.Pro98Ser,ENST00000409542,;AC018890.6,intron_variant,,ENST00000442996,;CHRNA1,splice_region_variant,,ENST00000435083,;	A	ENST00000261007	Transcript	missense_variant,splice_region_variant	680/1980	613/1449	205/482	P/S	Ccg/Tcg		1		-1	CHRNA1	HGNC	HGNC:1955	protein_coding	YES	CCDS33331.1	ENSP00000261007	P02708		UPI000012524E	NM_001039523.2	tolerated(0.5)		6/10		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF74,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	83	174754221	174754221	G	A	1	0	0	0	0	1	0	0	0	3141	1246	43	3		3	CHRNA1	2	174754221	Missense_Mutation	SNP	G	C3N-01823_TP	417763	174754221	67439308	67	27410											
ZDBF2	0	.	GRCh38	chr2	206305083	206305083	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccccccagtgatttgtaaTgctcctgctagttgtttacc	6	14	8	13	1	0	1	0	1	0	0	1	1	1	1	5	0	3	5	5	0	3	6	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.555T>A	p.Asn185Lys	p.N185K	ENST00000374423	5/5	315	264	51	167	167	0	strelka-varscan-mutect	ZDBF2,missense_variant,p.Asn185Lys,ENST00000374423,NM_020923.2;ZDBF2,missense_variant,p.Asn183Lys,ENST00000611847,NM_001285549.1;	A	ENST00000374423	Transcript	missense_variant	941/10286	555/7065	185/2354	N/K	aaT/aaA		1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2	deleterious(0.01)		5/5		hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	206305083	206305083	T	A	1	0	0	0	0	1	0	0	0	18174	1461	51	4		4	ZDBF2	2	206305083	Missense_Mutation	SNP	T	C3N-01823_TP	31550862	206305083	35888446	68	27411											
PIKFYVE	0	.	GRCh38	chr2	208330582	208330582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggtacatcatattcggcGctttgttcatggccaaggct	8	13	10	10	2	2	0	2	0	0	0	3	0	2	0	1	4	1	4	1	4	3	5	rs746781460		C3N-01823_TP	C3N-01823_NB	G	G																c.3851G>T	p.Arg1284Leu	p.R1284L	ENST00000264380	23/42	254	206	48	171	171	0	strelka-varscan-mutect	PIKFYVE,missense_variant,p.Arg1284Leu,ENST00000264380,NM_015040.3;PIKFYVE,missense_variant,p.Arg1228Leu,ENST00000452564,;PIKFYVE,upstream_gene_variant,,ENST00000474721,;PIKFYVE,downstream_gene_variant,,ENST00000443896,;	T	ENST00000264380	Transcript	missense_variant	4009/9901	3851/6297	1284/2098	R/L	cGc/cTc	rs746781460,COSM1220636	1		1	PIKFYVE	HGNC	HGNC:23785	protein_coding	YES	CCDS2382.1	ENSP00000264380	Q9Y2I7		UPI0000366FD6	NM_015040.3	deleterious(0)		23/42		hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF57											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs746781460	.												T	3	4	83	208330582	208330582	G	T	1	0	0	0	0	1	0	0	0	12019	1087	38	1		1	PIKFYVE	2	208330582	Missense_Mutation	SNP	G	C3N-01823_TP	2025499	208330582	33862947	69	27412											
UNC80	0	.	GRCh38	chr2	209904791	209904791	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttgctgtgcaatcagcaGagtttcatctgcactcacgt	9	13	8	11	1	5	1	3	0	2	1	5	1	5	1	0	0	4	5	0	0	1	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.4410G>C	p.Gln1470His	p.Q1470H	ENST00000439458	28/64	344	283	61	183	183	0	strelka-varscan-mutect	UNC80,missense_variant,p.Gln1470His,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Gln1465His,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;	C	ENST00000439458	Transcript	missense_variant	4490/13562	4410/9777	1470/3258	Q/H	caG/caC		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1	tolerated(0.54)		28/64		hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	83	209904791	209904791	G	C	1	0	0	0	0	1	0	0	0	17521	933	33	4		4	UNC80	2	209904791	Missense_Mutation	SNP	G	C3N-01823_TP	1574209	209904791	32288738	70	27413											
TNS1	0	.	GRCh38	chr2	217818717	217818717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgggcgtccggggaccCtggtcactgctctctcccga	3	9	15	14	3	2	0	1	0	1	0	5	2	4	1	3	5	1	1	3	5	0	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.3303G>T	p.Gln1101His	p.Q1101H	ENST00000171887	24/33	147	132	15	96	96	0	strelka-varscan-mutect	TNS1,missense_variant,p.Gln1101His,ENST00000171887,NM_022648.4;TNS1,missense_variant,p.Gln1088His,ENST00000611415,;TNS1,missense_variant,p.Gln731His,ENST00000615025,;TNS1,missense_variant,p.Gln1088His,ENST00000419504,;TNS1,missense_variant,p.Gln1080His,ENST00000430930,NM_001308023.1;TNS1,missense_variant,p.Gln212His,ENST00000446688,;TNS1,upstream_gene_variant,,ENST00000490566,;TNS1,upstream_gene_variant,,ENST00000495556,;	A	ENST00000171887	Transcript	missense_variant	3756/10331	3303/5208	1101/1735	Q/H	caG/caT		1		-1	TNS1	HGNC	HGNC:11973	protein_coding	YES	CCDS2407.1	ENSP00000171887	Q9HBL0		UPI0000456EEB	NM_022648.4	tolerated(0.67)		24/33																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	217818717	217818717	C	A	1	0	0	0	0	1	0	0	0	16816	680	24	2		2	TNS1	2	217818717	Missense_Mutation	SNP	C	C3N-01823_TP	7913926	217818717	24374812	71	27414											
PRKAG3	0	.	GRCh38	chr2	218826947	218826947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcgttgaccacaggCagtgcagacacacgccggtc	10	6	10	15	3	0	2	0	1	0	1	2	2	0	2	3	2	1	3	3	2	0	2			C3N-01823_TP	C3N-01823_NB	C	C																c.1149G>A	p.=	p.L383L	ENST00000439262	10/14	448	398	50	273	273	0	strelka-varscan-mutect	PRKAG3,synonymous_variant,p.=,ENST00000439262,NM_017431.2;PRKAG3,synonymous_variant,p.=,ENST00000529249,;PRKAG3,downstream_gene_variant,,ENST00000430489,;MIR9500,downstream_gene_variant,,ENST00000635985,;PRKAG3,synonymous_variant,p.=,ENST00000233944,;PRKAG3,3_prime_UTR_variant,,ENST00000470307,;PRKAG3,non_coding_transcript_exon_variant,,ENST00000490971,;	T	ENST00000439262	Transcript	synonymous_variant	1170/2301	1149/1470	383/489	L	ctG/ctA	COSM3719934	1		-1	PRKAG3	HGNC	HGNC:9387	protein_coding	YES	CCDS2424.1	ENSP00000397133	Q9UGI9	A0A024R426	UPI0000043D98	NM_017431.2			10/14		PROSITE_profiles:PS51371,hmmpanther:PTHR13780:SF31,hmmpanther:PTHR13780,Gene3D:3.10.580.10,Pfam_domain:PF00571,SMART_domains:SM00116,Superfamily_domains:SSF54631											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	83	218826947	218826947	C	T	1	0	0	0	0	0	0	0	1	12635	697	25	3		3	PRKAG3	2	218826947	Silent	SNP	C	C3N-01823_TP	1008230	218826947	23366582	72	27415											
DOCK10	0	.	GRCh38	chr2	224852939	224852939	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaacttatatcataccttgTtgaagcatttctggctatca	11	15	7	8	0	3	1	2	1	1	0	3	2	3	2	1	2	3	3	1	2	6	7			C3N-01823_TP	C3N-01823_NB	T	T																c.2072A>G	p.Asn691Ser	p.N691S	ENST00000258390	17/56	62	53	9	41	41	0	strelka-varscan-mutect	DOCK10,missense_variant,p.Asn685Ser,ENST00000409592,NM_001290263.1;DOCK10,missense_variant,p.Asn691Ser,ENST00000258390,NM_014689.2;	C	ENST00000258390	Transcript	missense_variant	2140/7260	2072/6561	691/2186	N/S	aAc/aGc	COSM3046728,COSM4310343	1		-1	DOCK10	HGNC	HGNC:23479	protein_coding	YES	CCDS46528.1	ENSP00000258390	Q96BY6		UPI000021D2A7	NM_014689.2	tolerated(0.35)		17/56		Pfam_domain:PF14429,PROSITE_profiles:PS51650,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF71											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												C	3	2	83	224852939	224852939	T	C	1	0	0	0	0	1	0	0	0	4500	1739	60	5		5	DOCK10	2	224852939	Missense_Mutation	SNP	T	C3N-01823_TP	6025992	224852939	17340590	73	27416											
DOCK10	0	.	GRCh38	chr2	224865015	224865015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcatggtttagatccaCatgaaaatcagcagaaatct	16	9	8	8	0	2	3	1	1	1	2	3	3	3	3	1	1	3	4	1	1	4	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1330G>T	p.Val444Leu	p.V444L	ENST00000258390	12/56	407	345	62	290	290	0	strelka-varscan-mutect	DOCK10,missense_variant,p.Val438Leu,ENST00000409592,NM_001290263.1;DOCK10,missense_variant,p.Val444Leu,ENST00000258390,NM_014689.2;DOCK10,non_coding_transcript_exon_variant,,ENST00000492369,;	A	ENST00000258390	Transcript	missense_variant	1398/7260	1330/6561	444/2186	V/L	Gtg/Ttg		1		-1	DOCK10	HGNC	HGNC:23479	protein_coding	YES	CCDS46528.1	ENSP00000258390	Q96BY6		UPI000021D2A7	NM_014689.2	deleterious(0.02)		12/56		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF71																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	83	224865015	224865015	C	A	1	0	0	0	0	1	0	0	0	4500	478	17	2		2	DOCK10	2	224865015	Missense_Mutation	SNP	C	C3N-01823_TP	12076	224865015	17328514	74	27417											
ALPP	0	.	GRCh38	chr2	232379822	232379822	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcctcgccagccggcacCtacgcccacacggtgaaccg	8	3	10	20	6	0	1	0	1	0	0	1	1	0	1	6	2	3	1	6	2	2	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.543C>G	p.=	p.T181T	ENST00000392027	5/11	400	359	41	266	266	0	strelka-varscan-mutect	ALPP,synonymous_variant,p.=,ENST00000392027,NM_001632.4;AC068134.8,non_coding_transcript_exon_variant,,ENST00000439072,;AC068134.8,intron_variant,,ENST00000441266,;ALPP,upstream_gene_variant,,ENST00000485563,;ALPP,downstream_gene_variant,,ENST00000474529,;	G	ENST00000392027	Transcript	synonymous_variant	812/2971	543/1608	181/535	T	acC/acG		1		1	ALPP	HGNC	HGNC:439	protein_coding	YES	CCDS2490.1	ENSP00000375881	P05187		UPI0000131FF9	NM_001632.4			5/11		Gene3D:3.40.720.10,Pfam_domain:PF00245,hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF31,SMART_domains:SM00098,Superfamily_domains:SSF53649																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	83	232379822	232379822	C	G	1	0	0	0	0	0	0	0	1	648	668	24	4		4	ALPP	2	232379822	Silent	SNP	C	C3N-01823_TP	7514807	232379822	9813707	75	27418											
KIF1A	0	.	GRCh38	chr2	240721852	240721852	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggctgtgtgtgtactcTctgttgaatgtgtgcgtgag	5	15	15	6	2	1	2	0	2	1	0	2	2	1	2	0	1	2	3	0	1	2	2	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.4698A>G	p.=	p.R1566R	ENST00000498729	44/49	306	263	43	200	200	0	strelka-varscan-mutect	KIF1A,synonymous_variant,p.=,ENST00000498729,NM_001244008.1;KIF1A,synonymous_variant,p.=,ENST00000320389,NM_004321.6;KIF1A,downstream_gene_variant,,ENST00000404283,;KIF1A,downstream_gene_variant,,ENST00000431776,;KIF1A,non_coding_transcript_exon_variant,,ENST00000460788,;KIF1A,non_coding_transcript_exon_variant,,ENST00000492812,;KIF1A,non_coding_transcript_exon_variant,,ENST00000465813,;KIF1A,downstream_gene_variant,,ENST00000494452,;KIF1A,upstream_gene_variant,,ENST00000488776,;	C	ENST00000498729	Transcript	synonymous_variant	4945/9223	4698/5376	1566/1791	R	agA/agG		1		-1	KIF1A	HGNC	HGNC:888	protein_coding	YES	CCDS58757.1	ENSP00000438388	Q12756		UPI0002065B81	NM_001244008.1			44/49																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	83	240721852	240721852	T	C	1	0	0	0	0	0	0	0	1	8147	1548	54	5		5	KIF1A	2	240721852	Silent	SNP	T	C3N-01823_TP	8342030	240721852	1471677	76	27419											
RPUSD3	0	.	GRCh38	chr3	9840701	9840701	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcccagcacctctcaccagTaggtggctgtgggcctttgg	5	10	12	14	0	1	0	1	0	1	0	3	0	2	0	4	4	1	3	4	4	1	2	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.512A>G	p.Tyr171Cys	p.Y171C	ENST00000383820	5/9	249	226	23	167	167	0	strelka-varscan-mutect	RPUSD3,missense_variant,p.Tyr171Cys,ENST00000383820,NM_173659.3;RPUSD3,missense_variant,p.Tyr156Cys,ENST00000433535,NM_001142547.1;RPUSD3,missense_variant,p.Tyr139Cys,ENST00000424438,;RPUSD3,missense_variant,p.Tyr167Cys,ENST00000418713,;RPUSD3,missense_variant,p.Tyr162Cys,ENST00000427174,;TTLL3,intron_variant,,ENST00000455274,;TTLL3,downstream_gene_variant,,ENST00000383827,;RPUSD3,downstream_gene_variant,,ENST00000433972,;RPUSD3,downstream_gene_variant,,ENST00000433555,;RPUSD3,upstream_gene_variant,,ENST00000423108,;RPUSD3,downstream_gene_variant,,ENST00000485705,;RPUSD3,downstream_gene_variant,,ENST00000473522,;RPUSD3,non_coding_transcript_exon_variant,,ENST00000484134,;RPUSD3,non_coding_transcript_exon_variant,,ENST00000475470,;RPUSD3,non_coding_transcript_exon_variant,,ENST00000464783,;RPUSD3,non_coding_transcript_exon_variant,,ENST00000472381,;TTLL3,downstream_gene_variant,,ENST00000483051,;RPUSD3,upstream_gene_variant,,ENST00000466141,;RPUSD3,downstream_gene_variant,,ENST00000451405,;RPUSD3,downstream_gene_variant,,ENST00000460909,;	C	ENST00000383820	Transcript	missense_variant	514/1225	512/1056	171/351	Y/C	tAc/tGc		1		-1	RPUSD3	HGNC	HGNC:28437	protein_coding	YES	CCDS2586.2	ENSP00000373331	Q6P087		UPI000066D9E0	NM_173659.3	deleterious(0)		5/9		hmmpanther:PTHR11079,hmmpanther:PTHR11079:SF93,Pfam_domain:PF00849,Superfamily_domains:SSF55120																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	9840701	9840701	T	C	1	0	0	0	0	1	0	0	0	13923	1652	57	5		5	RPUSD3	3	9840701	Missense_Mutation	SNP	T	C3N-01823_TP		9840701	188454858	77	27420											
IQSEC1	0	.	GRCh38	chr3	12936393	12936393	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggggccggagacttgaggGtggtgggctcgctgaggtca	6	7	21	7	2	1	3	1	2	0	1	2	4	1	3	1	7	0	2	1	7	0	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.623C>G	p.Thr208Ser	p.T208S	ENST00000613206	3/14	99	94	5	51	51	0	strelka-mutect	IQSEC1,missense_variant,p.Thr222Ser,ENST00000273221,NM_014869.6;IQSEC1,missense_variant,p.Thr100Ser,ENST00000618604,;IQSEC1,missense_variant,p.Thr208Ser,ENST00000613206,NM_001134382.2;IQSEC1,downstream_gene_variant,,ENST00000473088,;	C	ENST00000613206	Transcript	missense_variant	726/3582	623/3345	208/1114	T/S	aCc/aGc		1		-1	IQSEC1	HGNC	HGNC:29112	protein_coding	YES	CCDS74902.1	ENSP00000480301		A0A087WWK8	UPI00017E10F8	NM_001134382.2	tolerated(0.77)		3/14		hmmpanther:PTHR10663:SF63,hmmpanther:PTHR10663																	MODERATE	1	SNV	2			1										PASS		rs1457617498	.												C	3	2	83	12936393	12936393	G	C	1	0	0	0	0	1	0	0	0	7723	1261	44	4		4	IQSEC1	3	12936393	Missense_Mutation	SNP	G	C3N-01823_TP	3095692	12936393	185359166	78	27421											
HACL1	0	.	GRCh38	chr3	15567939	15567939	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttctatctttagccacCacggcagctgcaatagcaaa	11	9	9	12	1	2	0	0	0	2	0	2	0	2	0	2	2	4	5	2	2	5	5	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1314G>T	p.=	p.V438V	ENST00000321169	14/17	368	299	69	208	208	0	strelka-varscan-mutect	HACL1,synonymous_variant,p.=,ENST00000321169,NM_012260.3;HACL1,synonymous_variant,p.=,ENST00000456194,NM_001284413.1;HACL1,synonymous_variant,p.=,ENST00000451445,NM_001284416.1;HACL1,synonymous_variant,p.=,ENST00000457447,NM_001284415.1;HACL1,synonymous_variant,p.=,ENST00000435217,;HACL1,3_prime_UTR_variant,,ENST00000628377,;HACL1,3_prime_UTR_variant,,ENST00000383779,;HACL1,3_prime_UTR_variant,,ENST00000422591,;	A	ENST00000321169	Transcript	synonymous_variant	1682/2266	1314/1737	438/578	V	gtG/gtT		1		-1	HACL1	HGNC	HGNC:17856	protein_coding	YES	CCDS2627.1	ENSP00000323811	Q9UJ83		UPI000012CB25	NM_012260.3			14/17		Gene3D:3.40.50.970,Pfam_domain:PF02775,hmmpanther:PTHR18968,hmmpanther:PTHR18968:SF6,Superfamily_domains:SSF52518																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	83	15567939	15567939	C	A	1	0	0	0	0	0	0	0	1	6827	581	21	2		2	HACL1	3	15567939	Silent	SNP	C	C3N-01823_TP	2631546	15567939	182727620	79	27422											
XIRP1	0	.	GRCh38	chr3	39184908	39184908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcgggcttttggtgggcaGcaggagcctgaggagcagcc	6	7	17	11	1	0	1	0	1	0	0	1	3	0	3	3	5	4	4	3	5	0	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.4538C>A	p.Ala1513Asp	p.A1513D	ENST00000340369	2/2	61	54	7	49	49	0	strelka-mutect	XIRP1,missense_variant,p.Ala1513Asp,ENST00000340369,NM_194293.2;XIRP1,missense_variant,p.Ala196Asp,ENST00000421646,;XIRP1,3_prime_UTR_variant,,ENST00000396251,NM_001198621.2;	T	ENST00000340369	Transcript	missense_variant	4767/6460	4538/5532	1513/1843	A/D	gCt/gAt		1		-1	XIRP1	HGNC	HGNC:14301	protein_coding	YES	CCDS2683.1	ENSP00000343140	Q702N8		UPI00001BFB06	NM_194293.2	tolerated(0.08)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR22591																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	39184908	39184908	G	T	1	0	0	0	0	1	0	0	0	17988	971	34	2		2	XIRP1	3	39184908	Missense_Mutation	SNP	G	C3N-01823_TP	23616969	39184908	159110651	80	27423											
MYRIP	0	.	GRCh38	chr3	40182259	40182259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcactggagaagaagccCtgaagacccctccagtggag	13	5	11	12	0	1	4	1	1	0	3	2	6	2	5	4	2	1	0	4	2	4	0	rs200729271		C3N-01823_TP	C3N-01823_NB	C	C																c.913C>A	p.Leu305Met	p.L305M	ENST00000302541	9/17	134	112	22	110	110	0	strelka-varscan-mutect	MYRIP,missense_variant,p.Leu305Met,ENST00000302541,NM_015460.3;MYRIP,missense_variant,p.Leu216Met,ENST00000396217,NM_001284425.1;MYRIP,missense_variant,p.Leu118Met,ENST00000539167,NM_001284426.1;MYRIP,missense_variant,p.Leu305Met,ENST00000425621,NM_001284424.1;MYRIP,missense_variant,p.Leu305Met,ENST00000444716,NM_001284423.1;EIF1B-AS1,intron_variant,,ENST00000625390,;MYRIP,non_coding_transcript_exon_variant,,ENST00000459828,;MYRIP,missense_variant,p.Leu305Met,ENST00000458292,;MYRIP,3_prime_UTR_variant,,ENST00000458441,;	A	ENST00000302541	Transcript	missense_variant	1255/5077	913/2580	305/859	L/M	Ctg/Atg	rs200729271	1		1	MYRIP	HGNC	HGNC:19156	protein_coding	YES	CCDS2689.1	ENSP00000301972	Q8NFW9		UPI0000074787	NM_015460.3	tolerated(0.24)		9/17		Pfam_domain:PF04698,hmmpanther:PTHR14555,hmmpanther:PTHR14555:SF6																	MODERATE	1	SNV	1			1										PASS		rs200729271	.												A	3	1	83	40182259	40182259	C	A	1	0	0	0	0	1	0	0	0	10103	680	24	2		2	MYRIP	3	40182259	Missense_Mutation	SNP	C	C3N-01823_TP	997351	40182259	158113300	81	27424											
TCAIM	0	.	GRCh38	chr3	44367508	44367508	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagatctgctaagcacagtGttatatattctcaactcctg	12	13	7	9	0	2	1	1	0	2	1	4	2	3	1	1	0	3	3	1	0	5	5	rs150831975		C3N-01823_TP	C3N-01823_NB	G	G																c.372G>T	p.=	p.V124V	ENST00000342649	5/11	189	162	27	130	130	0	strelka-varscan-mutect	TCAIM,synonymous_variant,p.=,ENST00000342649,NM_173826.3,NM_001282914.1;TCAIM,synonymous_variant,p.=,ENST00000417237,NM_001282915.1,NM_001282913.1;TCAIM,downstream_gene_variant,,ENST00000444602,;TCAIM,non_coding_transcript_exon_variant,,ENST00000494638,;TCAIM,intron_variant,,ENST00000431657,;TCAIM,intron_variant,,ENST00000412611,;TCAIM,intron_variant,,ENST00000417768,;TCAIM,intron_variant,,ENST00000462230,;	T	ENST00000342649	Transcript	synonymous_variant	799/3687	372/1491	124/496	V	gtG/gtT	rs150831975,COSM109540	1		1	TCAIM	HGNC	HGNC:25241	protein_coding	YES	CCDS2712.1	ENSP00000341539	Q8N3R3		UPI0000140156	NM_173826.3,NM_001282914.1			5/11		hmmpanther:PTHR31596,Pfam_domain:PF14687											1,1						LOW	1	SNV	1		0,1	1										PASS		rs150831975	.												T	2	4	83	44367508	44367508	G	T	1	0	0	0	0	0	0	0	1	16072	1364	48	2		2	TCAIM	3	44367508	Silent	SNP	G	C3N-01823_TP	4185249	44367508	153928051	82	27425											
EXOSC7	0	.	GRCh38	chr3	44997127	44997127	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttgaaggtagaggaggtGatgaccttggcaccgagatc	12	9	14	6	1	0	5	0	3	0	2	1	7	0	6	2	4	0	2	2	4	3	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.295G>C	p.Asp99His	p.D99H	ENST00000265564	4/8	246	220	26	155	155	0	strelka-varscan-mutect	EXOSC7,missense_variant,p.Asp99His,ENST00000265564,NM_015004.3;EXOSC7,non_coding_transcript_exon_variant,,ENST00000461361,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000491476,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000468667,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000481405,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000482004,;CLEC3B,upstream_gene_variant,,ENST00000490386,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000467846,;	C	ENST00000265564	Transcript	missense_variant	343/1055	295/876	99/291	D/H	Gat/Cat		1		1	EXOSC7	HGNC	HGNC:28112	protein_coding	YES	CCDS2725.1	ENSP00000265564	Q15024	A0A024R2P7	UPI000020A5E9	NM_015004.3	deleterious(0)		4/8		Pfam_domain:PF01138,hmmpanther:PTHR11097,hmmpanther:PTHR11097:SF8,Superfamily_domains:SSF54211																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	44997127	44997127	G	C	1	0	0	0	0	1	0	0	0	5187	1290	45	4		4	EXOSC7	3	44997127	Missense_Mutation	SNP	G	C3N-01823_TP	629619	44997127	153298432	83	27426											
SETD2	0	.	GRCh38	chr3	47057034	47057034	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagacagcaacgctggagtcTtggtgtactacaccatcact	12	9	9	11	1	2	1	1	0	1	1	2	2	2	2	1	2	4	3	1	2	4	3	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.6750A>T	p.Gln2250His	p.Q2250H	ENST00000409792	15/21	256	213	43	183	183	0	strelka-varscan-mutect	SETD2,missense_variant,p.Gln2250His,ENST00000409792,NM_014159.6;SETD2,3_prime_UTR_variant,,ENST00000330022,;SETD2,3_prime_UTR_variant,,ENST00000431180,;SETD2,3_prime_UTR_variant,,ENST00000445387,;	A	ENST00000409792	Transcript	missense_variant	6793/8142	6750/7695	2250/2564	Q/H	caA/caT		1		-1	SETD2	HGNC	HGNC:18420	protein_coding	YES	CCDS2749.2	ENSP00000386759	Q9BYW2		UPI00017E10FB	NM_014159.6	deleterious(0)		15/21																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	83	47057034	47057034	T	A	1	0	0	0	0	1	0	0	0	14409	1606	56	4		4	SETD2	3	47057034	Missense_Mutation	SNP	T	C3N-01823_TP	2059907	47057034	151238525	84	27427											
DHX30	0	.	GRCh38	chr3	47840914	47840914	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccggaatgagttgtttgAcgcagccaaataccgagtgc	10	9	11	11	3	0	2	0	2	0	0	1	4	1	3	4	1	3	3	4	1	3	3	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.404A>T	p.Asp135Val	p.D135V	ENST00000445061	7/22	436	395	41	372	372	0	strelka-varscan-mutect	DHX30,missense_variant,p.Asp135Val,ENST00000445061,NM_138615.2;DHX30,missense_variant,p.Asp107Val,ENST00000348968,;DHX30,missense_variant,p.Asp163Val,ENST00000457607,;DHX30,missense_variant,p.Asp135Val,ENST00000446256,;DHX30,missense_variant,p.Asp96Val,ENST00000619982,NM_014966.3;DHX30,upstream_gene_variant,,ENST00000461905,;DHX30,3_prime_UTR_variant,,ENST00000395745,;DHX30,3_prime_UTR_variant,,ENST00000441384,;	T	ENST00000445061	Transcript	missense_variant	811/4065	404/3585	135/1194	D/V	gAc/gTc		1		1	DHX30	HGNC	HGNC:16716	protein_coding	YES	CCDS2759.1	ENSP00000405620	Q7L2E3	A0A024R2T6	UPI000007112B	NM_138615.2	deleterious_low_confidence(0.01)		7/22																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	47840914	47840914	A	T	1	0	0	0	0	1	0	0	0	4308	275	10	4		4	DHX30	3	47840914	Missense_Mutation	SNP	A	C3N-01823_TP	783880	47840914	150454645	85	27428											
CELSR3	0	.	GRCh38	chr3	48653030	48653030	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctaaagtccagtgagaccAtaaggacatggtggccccgc	11	6	13	11	1	0	1	0	1	0	1	1	3	1	2	4	4	0	1	4	4	3	2	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.5606T>A	p.Met1869Lys	p.M1869K	ENST00000164024	10/35	145	116	29	105	105	0	strelka-varscan-mutect	CELSR3,missense_variant,p.Met1869Lys,ENST00000164024,NM_001407.2;	T	ENST00000164024	Transcript	missense_variant	5887/11956	5606/9939	1869/3312	M/K	aTg/aAg		1		-1	CELSR3	HGNC	HGNC:3230	protein_coding	YES	CCDS2775.1	ENSP00000164024	Q9NYQ7		UPI00001AE5A6	NM_001407.2	tolerated(0.25)		10/35		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	48653030	48653030	A	T	1	0	0	0	0	1	0	0	0	2930	217	8	4		4	CELSR3	3	48653030	Missense_Mutation	SNP	A	C3N-01823_TP	812116	48653030	149642529	86	27429											
SLC25A20	0	.	GRCh38	chr3	48859096	48859096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaccttccactcaccagtCtggaatcgagacttgagcac	11	9	7	14	1	2	2	1	1	1	1	4	4	3	3	3	1	2	1	3	1	2	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.714G>T	p.Gln238His	p.Q238H	ENST00000319017	7/9	302	261	41	226	226	0	strelka-varscan-mutect	SLC25A20,missense_variant,p.Gln238His,ENST00000319017,NM_000387.5;SLC25A20,missense_variant,p.Gln165His,ENST00000430379,;SLC25A20,3_prime_UTR_variant,,ENST00000440964,;SLC25A20,upstream_gene_variant,,ENST00000479050,;	A	ENST00000319017	Transcript	missense_variant	913/1879	714/906	238/301	Q/H	caG/caT		1		-1	SLC25A20	HGNC	HGNC:1421	protein_coding	YES	CCDS2779.1	ENSP00000326305	O43772		UPI000012ED5E	NM_000387.5	deleterious(0)		7/9		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF323,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	48859096	48859096	C	A	1	0	0	0	0	1	0	0	0	14748	927	32	2		2	SLC25A20	3	48859096	Missense_Mutation	SNP	C	C3N-01823_TP	206066	48859096	149436463	87	27430											
UBA7	0	.	GRCh38	chr3	49810600	49810600	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacaacagtcaagccccCgctgttcccggcccccagtc	8	6	8	19	2	2	0	2	0	0	0	4	0	3	0	5	1	3	2	5	1	3	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1384G>T	p.Gly462Trp	p.G462W	ENST00000333486	12/24	332	283	49	240	240	0	strelka-varscan-mutect	UBA7,missense_variant,p.Gly462Trp,ENST00000333486,NM_003335.2;UBA7,upstream_gene_variant,,ENST00000584510,;UBA7,downstream_gene_variant,,ENST00000494212,;UBA7,non_coding_transcript_exon_variant,,ENST00000460703,;UBA7,non_coding_transcript_exon_variant,,ENST00000460516,;UBA7,upstream_gene_variant,,ENST00000483751,;UBA7,downstream_gene_variant,,ENST00000478688,;UBA7,upstream_gene_variant,,ENST00000488536,;UBA7,upstream_gene_variant,,ENST00000478875,;UBA7,upstream_gene_variant,,ENST00000497908,;UBA7,upstream_gene_variant,,ENST00000473992,;UBA7,upstream_gene_variant,,ENST00000489826,;	A	ENST00000333486	Transcript	missense_variant	1543/3299	1384/3039	462/1012	G/W	Ggg/Tgg		1		-1	UBA7	HGNC	HGNC:12471	protein_coding	YES	CCDS2805.1	ENSP00000333266	P41226		UPI000006E3F8	NM_003335.2	deleterious(0)		12/24		Gene3D:3.40.50.720,Pfam_domain:PF00899,Prints_domain:PR01849,hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF143,Superfamily_domains:SSF69572,TIGRFAM_domain:TIGR01408																	MODERATE	1	SNV	1			1										PASS		rs1411809564	.												A	3	1	83	49810600	49810600	C	A	1	0	0	0	0	1	0	0	0	17352	652	23	1		1	UBA7	3	49810600	Missense_Mutation	SNP	C	C3N-01823_TP	951504	49810600	148484959	88	27431											
RBM6	0	.	GRCh38	chr3	50077095	50077095	+	Frame_Shift_Del	DEL	C	C	-																															agacttaccgagatgctgttCgaagagtcatgtttgctcga																										C3N-01823_TP	C3N-01823_NB	C	C																c.3334delC	p.Arg1112GlufsTer?	p.R1112Efs*?	ENST00000266022	21/21	201	180	21	223	223	0	sindel-varindel-pindel	RBM6,frameshift_variant,p.Arg980GlufsTer?,ENST00000443081,;RBM6,frameshift_variant,p.Arg1112GlufsTer?,ENST00000266022,NM_005777.2;RBM6,frameshift_variant,p.Arg590GlufsTer?,ENST00000422955,;RBM6,frameshift_variant,p.Arg590GlufsTer?,ENST00000442092,NM_001167582.1;RBM6,frameshift_variant,p.Arg108GlufsTer?,ENST00000421682,;RBM6,3_prime_UTR_variant,,ENST00000454079,;RBM6,3_prime_UTR_variant,,ENST00000419610,;RBM6,intron_variant,,ENST00000434592,;	-	ENST00000266022	Transcript	frameshift_variant	3593/3750	3334/3372	1112/1123	R/X	Cga/ga	COSM1046404	1		1	RBM6	HGNC	HGNC:9903	protein_coding	YES	CCDS2809.1	ENSP00000266022	P78332		UPI000013D6C0	NM_005777.2			21/21		hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF22											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	83	50077095	50077095	C	-	1	0	1	0	1	0	0	0	0	13311	876	31	0		0	RBM6	3	50077095	Frame_Shift_Del	DEL	C	C3N-01823_TP	266495	50077095	148218464	89	27432											
FHIT	0	.	GRCh38	chr3	59752300	59752300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccaagaggcaggaaagtCctccttgtcatgtttctgga	9	12	10	10	0	3	1	1	0	2	1	6	3	5	3	3	3	0	2	3	3	2	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.370G>T	p.Asp124Tyr	p.D124Y	ENST00000468189	9/9	202	170	32	111	111	0	strelka-varscan-mutect	FHIT,missense_variant,p.Asp124Tyr,ENST00000468189,;FHIT,missense_variant,p.Asp124Tyr,ENST00000492590,NM_002012.2,NM_001166243.1;FHIT,missense_variant,p.Asp124Tyr,ENST00000476844,;FHIT,non_coding_transcript_exon_variant,,ENST00000466788,;	A	ENST00000468189	Transcript	missense_variant	741/1634	370/444	124/147	D/Y	Gac/Tac		1		-1	FHIT	HGNC	HGNC:3701	protein_coding	YES	CCDS2894.1	ENSP00000417480	P49789	A0A024R366	UPI000000160B		deleterious(0)		9/9		hmmpanther:PTHR23089:SF19,hmmpanther:PTHR23089,Gene3D:3.30.428.10,Superfamily_domains:SSF54197																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	83	59752300	59752300	C	A	1	0	0	0	0	1	0	0	0	5742	855	30	2		2	FHIT	3	59752300	Missense_Mutation	SNP	C	C3N-01823_TP	9675205	59752300	138543259	90	27433											
FRMD4B	0	.	GRCh38	chr3	69249238	69249238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcattacctggtataatctCccttggcttcctaaaaacaa	13	12	5	11	0	1	0	0	0	1	0	3	0	2	0	3	2	3	3	3	2	7	6	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.569G>T	p.Gly190Val	p.G190V	ENST00000398540	7/23	165	154	11	135	135	0	strelka-varscan-mutect	FRMD4B,missense_variant,p.Gly190Val,ENST00000398540,NM_015123.2;FRMD4B,missense_variant,p.Gly136Val,ENST00000460709,;FRMD4B,missense_variant,p.Gly136Val,ENST00000473029,;FRMD4B,missense_variant,p.Gly81Val,ENST00000493880,;FRMD4B,non_coding_transcript_exon_variant,,ENST00000470070,;FRMD4B,non_coding_transcript_exon_variant,,ENST00000483668,;FRMD4B,intron_variant,,ENST00000487751,;	A	ENST00000398540	Transcript	missense_variant	653/5060	569/3105	190/1034	G/V	gGa/gTa		1		-1	FRMD4B	HGNC	HGNC:24886	protein_coding	YES	CCDS46863.1	ENSP00000381549	Q9Y2L6		UPI00001C1DF1	NM_015123.2	deleterious(0.01)		7/23		PROSITE_profiles:PS50057,hmmpanther:PTHR23281:SF16,hmmpanther:PTHR23281,Pfam_domain:PF00373,Gene3D:1.20.80.10,SMART_domains:SM00295,Superfamily_domains:SSF47031,Prints_domain:PR00935																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	69249238	69249238	C	A	1	0	0	0	0	1	0	0	0	5922	855	30	2		2	FRMD4B	3	69249238	Missense_Mutation	SNP	C	C3N-01823_TP	9496938	69249238	129046321	91	27434											
OR5AC2	0	.	GRCh38	chr3	98087764	98087764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaatggtccatctattaacGcactaatgatatttattttt	12	17	5	7	1	1	1	0	1	1	0	2	1	2	1	1	1	1	2	1	1	6	8	rs755877682		C3N-01823_TP	C3N-01823_NB	G	G																c.592G>A	p.Ala198Thr	p.A198T	ENST00000358642	1/1	116	99	17	73	73	0	strelka-varscan-mutect	OR5AC2,missense_variant,p.Ala198Thr,ENST00000358642,NM_054106.1;	A	ENST00000358642	Transcript	missense_variant	592/930	592/930	198/309	A/T	Gca/Aca	rs755877682,COSM293479	1		1	OR5AC2	HGNC	HGNC:15431	protein_coding	YES	CCDS33796.1	ENSP00000351466	Q9NZP5		UPI0000441EFD	NM_054106.1	tolerated(0.39)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF96,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs755877682	.												A	3	1	83	98087764	98087764	G	A	1	0	0	0	0	1	0	0	0	11213	1087	38	1		1	OR5AC2	3	98087764	Missense_Mutation	SNP	G	C3N-01823_TP	28838526	98087764	100207795	92	27435											
OR5H14	0	.	GRCh38	chr3	98150184	98150184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggctctgcatccccacagGctgatgaccaagatatgatg	10	9	11	11	0	1	4	0	3	1	1	2	4	2	4	3	2	1	3	3	2	2	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.799G>T	p.Ala267Ser	p.A267S	ENST00000437310	1/1	176	150	26	118	118	0	strelka-varscan-mutect	OR5H14,missense_variant,p.Ala267Ser,ENST00000437310,NM_001005514.1;RP11-343D2.11,upstream_gene_variant,,ENST00000508964,;	T	ENST00000437310	Transcript	missense_variant	859/1080	799/933	267/310	A/S	Gct/Tct		1		1	OR5H14	HGNC	HGNC:31286	protein_coding	YES	CCDS33798.1	ENSP00000401706	A6NHG9		UPI0000197F5D	NM_001005514.1	tolerated(0.3)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF375,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												T	3	4	83	98150184	98150184	G	T	1	0	0	0	0	1	0	0	0	11230	1203	42	2		2	OR5H14	3	98150184	Missense_Mutation	SNP	G	C3N-01823_TP	62420	98150184	100145375	93	27436											
PARP14	0	.	GRCh38	chr3	122700351	122700351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgccttaaattataaGcgcattgaagttgagaacaa	15	11	8	7	1	1	2	1	2	0	1	1	3	1	2	1	0	3	2	1	0	7	5			C3N-01823_TP	C3N-01823_NB	G	G																c.1797G>A	p.=	p.K599K	ENST00000474629	6/17	249	225	24	189	189	0	strelka-varscan-mutect	PARP14,synonymous_variant,p.=,ENST00000474629,NM_017554.2;PARP14,downstream_gene_variant,,ENST00000494811,;PARP14,synonymous_variant,p.=,ENST00000460683,;PARP14,upstream_gene_variant,,ENST00000474669,;	A	ENST00000474629	Transcript	synonymous_variant	2063/7915	1797/5406	599/1801	K	aaG/aaA	COSM269816,COSM269817	1		1	PARP14	HGNC	HGNC:29232	protein_coding	YES	CCDS46894.1	ENSP00000418194	Q460N5		UPI00015A20AB	NM_017554.2			6/17		hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF65											1,1						LOW	1	SNV	2		1,1	1										PASS		.	.												A	2	1	83	122700351	122700351	G	A	1	0	0	0	0	0	0	0	1	11538	962	34	3		3	PARP14	3	122700351	Silent	SNP	G	C3N-01823_TP	24550167	122700351	75595208	94	27437											
ACAD9	0	.	GRCh38	chr3	128879766	128879766	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtctggtggtctctaccgcGaaccggcggctactgcgcac	5	8	14	14	5	2	0	0	0	2	0	3	1	2	0	2	5	4	2	2	5	3	2	rs564435799		C3N-01823_TP	C3N-01823_NB	G	G																c.75G>C	p.=	p.A25A	ENST00000308982	1/18	417	396	21	230	229	1	strelka-varscan-mutect	ACAD9,synonymous_variant,p.=,ENST00000308982,NM_014049.4;ACAD9,synonymous_variant,p.=,ENST00000514336,;ACAD9,non_coding_transcript_exon_variant,,ENST00000505602,;ACAD9,synonymous_variant,p.=,ENST00000511227,;ACAD9,synonymous_variant,p.=,ENST00000505867,;ACAD9,synonymous_variant,p.=,ENST00000505192,;ACAD9,synonymous_variant,p.=,ENST00000514643,;ACAD9,synonymous_variant,p.=,ENST00000512801,;ACAD9,synonymous_variant,p.=,ENST00000515429,;	C	ENST00000308982	Transcript	synonymous_variant	156/2454	75/1866	25/621	A	gcG/gcC	rs564435799	1		1	ACAD9	HGNC	HGNC:21497	protein_coding	YES	CCDS3053.1	ENSP00000312618	Q9H845		UPI00000498C3	NM_014049.4			1/18		hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF121																	LOW	1	SNV	1			1										PASS		rs564435799	.												C	2	2	83	128879766	128879766	G	C	1	0	0	0	0	0	0	0	1	154	1045	37	4		4	ACAD9	3	128879766	Silent	SNP	G	C3N-01823_TP	6179415	128879766	69415793	95	27438											
U2SURP	0	.	GRCh38	chr3	143037311	143037311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtccctataaaaagtcttGatgatgatcttgatggagtg	12	13	11	5	0	2	4	0	4	2	0	3	6	3	5	1	1	0	0	1	1	4	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2197G>T	p.Asp733Tyr	p.D733Y	ENST00000473835	21/28	208	178	30	143	143	0	strelka-mutect	U2SURP,missense_variant,p.Asp733Tyr,ENST00000473835,NM_001320219.1,NM_001080415.1;U2SURP,missense_variant,p.Asp732Tyr,ENST00000493598,;U2SURP,missense_variant,p.Asp53Tyr,ENST00000467348,;U2SURP,3_prime_UTR_variant,,ENST00000463563,;U2SURP,3_prime_UTR_variant,,ENST00000488497,;U2SURP,non_coding_transcript_exon_variant,,ENST00000480029,;U2SURP,non_coding_transcript_exon_variant,,ENST00000461844,;U2SURP,downstream_gene_variant,,ENST00000472373,;U2SURP,downstream_gene_variant,,ENST00000496100,;	T	ENST00000473835	Transcript	missense_variant	2287/7276	2197/3090	733/1029	D/Y	Gat/Tat		1		1	U2SURP	HGNC	HGNC:30855	protein_coding	YES	CCDS46928.1	ENSP00000418563	O15042		UPI0000160746	NM_001320219.1,NM_001080415.1	tolerated(0.13)		21/28		hmmpanther:PTHR23140:SF1,hmmpanther:PTHR23140																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	143037311	143037311	G	T	1	0	0	0	0	1	0	0	0	17341	1290	45	2		2	U2SURP	3	143037311	Missense_Mutation	SNP	G	C3N-01823_TP	14157545	143037311	55258248	96	27439											
HPS3	0	.	GRCh38	chr3	149157440	149157440	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttagtgcgagctgccctgAtggatgccagtcagctggaa	8	10	14	9	1	1	1	1	1	0	0	1	4	1	3	2	2	5	3	2	2	2	1	rs372479893		C3N-01823_TP	C3N-01823_NB	A	A																c.1600A>T	p.Met534Leu	p.M534L	ENST00000296051	9/17	312	275	37	207	207	0	strelka-varscan-mutect	HPS3,missense_variant,p.Met534Leu,ENST00000296051,NM_032383.3;HPS3,missense_variant,p.Met369Leu,ENST00000460120,NM_001308258.1;CP,downstream_gene_variant,,ENST00000479771,;CP,downstream_gene_variant,,ENST00000481169,;HPS3,downstream_gene_variant,,ENST00000462030,;HPS3,upstream_gene_variant,,ENST00000460822,;HPS3,downstream_gene_variant,,ENST00000486530,;	T	ENST00000296051	Transcript	missense_variant	1740/4665	1600/3015	534/1004	M/L	Atg/Ttg	rs372479893	1		1	HPS3	HGNC	HGNC:15597	protein_coding	YES	CCDS3140.1	ENSP00000296051	Q969F9		UPI000000D989	NM_032383.3	tolerated(0.46)		9/17		hmmpanther:PTHR28633,hmmpanther:PTHR28633:SF1,Pfam_domain:PF14762,PIRSF_domain:PIRSF037473																	MODERATE	1	SNV	1			1										PASS		rs372479893	.												T	3	4	83	149157440	149157440	A	T	1	0	0	0	0	1	0	0	0	7235	333	12	4		4	HPS3	3	149157440	Missense_Mutation	SNP	A	C3N-01823_TP	6120129	149157440	49138119	97	27440											
POLN	0	.	GRCh38	chr4	2208442	2208442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaaggactgaggagacaGcttggcagaacctcttgatg	12	8	13	8	0	1	5	0	3	1	2	1	7	1	6	1	3	2	2	1	3	2	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.259C>T	p.=	p.L87L	ENST00000511885	5/26	91	78	13	66	66	0	strelka-varscan-mutect	POLN,synonymous_variant,p.=,ENST00000511885,NM_181808.3;POLN,synonymous_variant,p.=,ENST00000382865,;POLN,non_coding_transcript_exon_variant,,ENST00000515357,;POLN,non_coding_transcript_exon_variant,,ENST00000506518,;POLN,upstream_gene_variant,,ENST00000514858,;	A	ENST00000511885	Transcript	synonymous_variant	613/3253	259/2703	87/900	L	Ctg/Ttg		1		-1	POLN	HGNC	HGNC:18870	protein_coding	YES	CCDS3360.1	ENSP00000435506	Q7Z5Q5		UPI0000246FC3	NM_181808.3			5/26																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	83	2208442	2208442	G	A	1	0	0	0	0	0	0	0	1	12317	962	34	3		3	POLN	4	2208442	Silent	SNP	G	C3N-01823_TP		2208442	188006113	98	27441											
ADRA2C	0	.	GRCh38	chr4	3767422	3767422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcaggcgcaggcgaGaacgggcactgcgcgccccc	6	1	18	16	7	0	1	0	0	0	1	0	2	0	1	2	5	2	3	2	5	1	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.816G>T	p.Glu272Asp	p.E272D	ENST00000330055	1/1	215	204	11	142	142	0	strelka-varscan-mutect	ADRA2C,missense_variant,p.Glu272Asp,ENST00000330055,NM_000683.3;ADRA2C,missense_variant,p.Glu272Asp,ENST00000509482,;AC141928.1,upstream_gene_variant,,ENST00000511928,;	T	ENST00000330055	Transcript	missense_variant	1025/2129	816/1389	272/462	E/D	gaG/gaT		1		1	ADRA2C	HGNC	HGNC:283	protein_coding	YES	CCDS47004.1	ENSP00000386069	P18825	Q4W594	UPI000012500C	NM_000683.3	tolerated(0.2)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF25,Pfam_domain:PF00001,SMART_domains:SM01381																	MODERATE		SNV				1										PASS		rs1206174325	.												T	3	4	83	3767422	3767422	G	T	1	0	0	0	0	1	0	0	0	415	933	33	2		2	ADRA2C	4	3767422	Missense_Mutation	SNP	G	C3N-01823_TP	1558980	3767422	186447133	99	27442											
CPZ	0	.	GRCh38	chr4	8614476	8614476	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggcagcacaacaaggagtCactcctgaatttcgtggaga	12	8	11	10	1	1	2	1	1	0	1	3	4	2	3	1	3	2	2	1	3	3	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1481C>G	p.Ser494Ter	p.S494*	ENST00000360986	9/11	138	128	10	93	93	0	strelka-varscan-mutect	CPZ,stop_gained,p.Ser357Ter,ENST00000382480,NM_001014448.2;CPZ,stop_gained,p.Ser494Ter,ENST00000360986,NM_001014447.2;CPZ,stop_gained,p.Ser483Ter,ENST00000315782,NM_003652.3;GPR78,3_prime_UTR_variant,,ENST00000514302,;CPZ,3_prime_UTR_variant,,ENST00000515606,;GPR78,non_coding_transcript_exon_variant,,ENST00000513120,;CPZ,upstream_gene_variant,,ENST00000513486,;	G	ENST00000360986	Transcript	stop_gained	1655/2267	1481/1959	494/652	S/*	tCa/tGa		1		1	CPZ	HGNC	HGNC:2333	protein_coding	YES	CCDS33953.1	ENSP00000354255	Q66K79		UPI000020BCC5	NM_001014447.2			9/11		Gene3D:3.40.630.10,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF55,SMART_domains:SM00631,Superfamily_domains:SSF53187																	HIGH	1	SNV	1			1										PASS		rs1436870207	.												G	4	3	83	8614476	8614476	C	G	1	0	0	0	0	0	1	0	0	3637	838	29	4		4	CPZ	4	8614476	Nonsense_Mutation	SNP	C	C3N-01823_TP	4847054	8614476	181600079	100	27443											
PCDH7	0	.	GRCh38	chr4	30724296	30724296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgtggaggcttctaaGccaaatggacagaggtatga	12	9	13	7	0	2	2	1	1	1	1	2	4	2	4	1	4	1	2	1	4	3	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2874G>T	p.Lys958Asn	p.K958N	ENST00000543491	1/1	193	180	13	97	97	0	strelka-varscan-mutect	PCDH7,missense_variant,p.Lys648Asn,ENST00000511884,NM_032457.3,NM_001173523.1;PCDH7,missense_variant,p.Lys958Asn,ENST00000361762,NM_002589.2;PCDH7,missense_variant,p.Lys958Asn,ENST00000543491,NM_032456.2;PCDH7,missense_variant,p.Lys273Asn,ENST00000621961,;PCDH7,upstream_gene_variant,,ENST00000509759,;PCDH7,intron_variant,,ENST00000507864,;	T	ENST00000543491	Transcript	missense_variant	3444/4457	2874/3219	958/1072	K/N	aaG/aaT		1		1	PCDH7	HGNC	HGNC:8659	protein_coding	YES	CCDS75116.1	ENSP00000441802	O60245		UPI00001615DB	NM_032456.2	tolerated(0.1)		1/1		hmmpanther:PTHR24027:SF321,hmmpanther:PTHR24027,Pfam_domain:PF08374																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	83	30724296	30724296	G	T	1	0	0	0	0	1	0	0	0	11603	962	34	2		2	PCDH7	4	30724296	Missense_Mutation	SNP	G	C3N-01823_TP	22109820	30724296	159490259	101	27444											
SRP72	0	.	GRCh38	chr4	56467659	56467659	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgagcggcggcagcgggggGgtgtcagtacctgcgctgtg	4	6	21	10	5	1	0	1	0	0	0	1	1	1	0	1	5	4	3	1	5	1	1	rs552135994		C3N-01823_TP	C3N-01823_NB	G	G																c.24G>C	p.=	p.G8G	ENST00000342756	1/19	71	65	6	42	42	0	strelka-mutect	SRP72,synonymous_variant,p.=,ENST00000342756,NM_006947.3;SRP72,synonymous_variant,p.=,ENST00000510663,NM_001267722.1;SRP72,synonymous_variant,p.=,ENST00000504757,;PAICS,downstream_gene_variant,,ENST00000512576,NM_001079524.1;	C	ENST00000342756	Transcript	synonymous_variant	745/3983	24/2016	8/671	G	ggG/ggC	rs552135994	1		1	SRP72	HGNC	HGNC:11303	protein_coding	YES	CCDS3506.1	ENSP00000342181	O76094	V9HWK0	UPI000013EEB0	NM_006947.3			1/19		Low_complexity_(Seg):seg,hmmpanther:PTHR14094:SF9,hmmpanther:PTHR14094,PIRSF_domain:PIRSF038922																	LOW	1	SNV	1			1										PASS		rs552135994	.												C	2	2	83	56467659	56467659	G	C	1	0	0	0	0	0	0	0	1	15518	1219	43	4		4	SRP72	4	56467659	Silent	SNP	G	C3N-01823_TP	25743363	56467659	133746896	102	27445											
ARHGAP24	0	.	GRCh38	chr4	85942129	85942129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatatgggaaccgtctggCtccgatgttggtggagcagt	8	10	16	7	2	1	1	0	0	1	1	2	5	2	3	2	4	2	3	2	4	2	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.455C>A	p.Ala152Asp	p.A152D	ENST00000395184	5/10	326	297	29	244	244	0	strelka-varscan-mutect	ARHGAP24,missense_variant,p.Ala152Asp,ENST00000395184,NM_001025616.2;ARHGAP24,missense_variant,p.Ala59Asp,ENST00000264343,NM_031305.2;ARHGAP24,missense_variant,p.Ala57Asp,ENST00000395183,NM_001042669.1;ARHGAP24,missense_variant,p.Ala67Asp,ENST00000514229,NM_001287805.1;ARHGAP24,missense_variant,p.Ala152Asp,ENST00000503995,;ARHGAP24,missense_variant,p.Ala26Asp,ENST00000509300,;ARHGAP24,missense_variant,p.Ala57Asp,ENST00000512201,;ARHGAP24,non_coding_transcript_exon_variant,,ENST00000502537,;ARHGAP24,non_coding_transcript_exon_variant,,ENST00000503917,;	A	ENST00000395184	Transcript	missense_variant	921/4661	455/2247	152/748	A/D	gCt/gAt		1		1	ARHGAP24	HGNC	HGNC:25361	protein_coding	YES	CCDS34025.1	ENSP00000378611	Q8N264		UPI00001AF1D9	NM_001025616.2	deleterious(0)		5/10		PROSITE_profiles:PS50238,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF19,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350																	MODERATE	1	SNV	2			1										PASS		rs1286516744	.												A	3	1	83	85942129	85942129	C	A	1	0	0	0	0	1	0	0	0	998	797	28	2		2	ARHGAP24	4	85942129	Missense_Mutation	SNP	C	C3N-01823_TP	29474470	85942129	104272426	103	27446											
MTTP	0	.	GRCh38	chr4	99583493	99583493	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagctctgcaaagacctacGctccttcatctaatccatgg	11	10	7	13	1	3	1	1	0	2	1	5	2	5	1	3	1	3	3	3	1	4	3	rs562221537		C3N-01823_TP	C3N-01823_NB	G	G																c.450G>T	p.=	p.T150T	ENST00000511045	3/18	302	280	22	254	254	0	strelka-varscan-mutect	MTTP,synonymous_variant,p.=,ENST00000457717,NM_000253.3;MTTP,synonymous_variant,p.=,ENST00000265517,;MTTP,synonymous_variant,p.=,ENST00000511045,NM_001300785.1;MTTP,synonymous_variant,p.=,ENST00000422897,;MTTP,synonymous_variant,p.=,ENST00000506883,;MTTP,downstream_gene_variant,,ENST00000515141,;MTTP,downstream_gene_variant,,ENST00000513404,;MTTP,downstream_gene_variant,,ENST00000505094,;MTTP,downstream_gene_variant,,ENST00000511610,;MTTP,downstream_gene_variant,,ENST00000505142,;	T	ENST00000511045	Transcript	synonymous_variant	463/3154	450/2766	150/921	T	acG/acT	rs562221537	1		1	MTTP	HGNC	HGNC:7467	protein_coding	YES	CCDS75169.1	ENSP00000427679		E9PBP6	UPI0001D3B6EF	NM_001300785.1			3/18		Gene3D:1lshA01,Pfam_domain:PF01347,PROSITE_profiles:PS51211,hmmpanther:PTHR13024,hmmpanther:PTHR13024:SF1,SMART_domains:SM00638,Superfamily_domains:SSF56968																	LOW	1	SNV	2			1										PASS		rs562221537	.												T	2	4	83	99583493	99583493	G	T	1	0	0	0	0	0	0	0	1	9961	1074	38	1		1	MTTP	4	99583493	Silent	SNP	G	C3N-01823_TP	13641364	99583493	90631062	104	27447											
MTTP	0	.	GRCh38	chr4	99606807	99606807	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagcagagaaaaaagaGgacaccaggatgtatctgct	19	5	11	6	0	1	2	0	0	1	2	1	6	1	4	1	2	2	3	1	2	6	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1485G>A	p.=	p.E495E	ENST00000511045	11/18	586	537	49	408	407	1	strelka-varscan-mutect	MTTP,synonymous_variant,p.=,ENST00000457717,NM_000253.3;MTTP,synonymous_variant,p.=,ENST00000265517,;MTTP,synonymous_variant,p.=,ENST00000511045,NM_001300785.1;RP11-766F14.1,intron_variant,,ENST00000508578,;	A	ENST00000511045	Transcript	synonymous_variant	1498/3154	1485/2766	495/921	E	gaG/gaA		1		1	MTTP	HGNC	HGNC:7467	protein_coding	YES	CCDS75169.1	ENSP00000427679		E9PBP6	UPI0001D3B6EF	NM_001300785.1			11/18		Superfamily_domains:0040642,Gene3D:1lshA02,Pfam_domain:PF01347,PROSITE_profiles:PS51211,hmmpanther:PTHR13024,hmmpanther:PTHR13024:SF1,SMART_domains:SM00638																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	83	99606807	99606807	G	A	1	0	0	0	0	0	0	0	1	9961	991	35	3		3	MTTP	4	99606807	Silent	SNP	G	C3N-01823_TP	23314	99606807	90607748	105	27448											
SLC9B2	0	.	GRCh38	chr4	103044996	103044996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacattaaagacagtagagCctgaaaaatatattaaaaaa	22	8	7	4	0	0	3	0	1	0	2	0	4	0	4	1	1	1	1	1	1	10	5	rs780338146		C3N-01823_TP	C3N-01823_NB	C	C																c.890G>A	p.Gly297Asp	p.G297D	ENST00000394785	8/12	164	149	15	149	149	0	strelka-varscan-mutect	SLC9B2,missense_variant,p.Gly297Asp,ENST00000394785,NM_178833.5;SLC9B2,missense_variant,p.Gly297Asp,ENST00000362026,;SLC9B2,missense_variant,p.Gly240Asp,ENST00000503103,NM_001300756.1;SLC9B2,missense_variant,p.Gly240Asp,ENST00000503230,NM_001300754.1;SLC9B2,missense_variant,p.Gly197Asp,ENST00000506288,;SLC9B2,downstream_gene_variant,,ENST00000515424,;SLC9B2,upstream_gene_variant,,ENST00000510976,;	T	ENST00000394785	Transcript	missense_variant,splice_region_variant	1522/3126	890/1614	297/537	G/D	gGc/gAc	rs780338146	1		-1	SLC9B2	HGNC	HGNC:25143	protein_coding	YES	CCDS3662.1	ENSP00000378265	Q86UD5	A0A024RDJ7	UPI000020B27F	NM_178833.5	deleterious(0.05)		8/12		Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF6																	MODERATE	1	SNV	2			1										PASS		rs780338146	.												T	3	4	83	103044996	103044996	C	T	1	0	0	0	0	1	0	0	0	15005	753	26	3		3	SLC9B2	4	103044996	Missense_Mutation	SNP	C	C3N-01823_TP	3438189	103044996	87169559	106	27449											
CFI	0	.	GRCh38	chr4	109749507	109749507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcgactttaccagttgtgCtcgctttcctcccacaattc	7	14	6	14	2	0	0	0	0	0	0	4	1	2	0	3	0	3	3	3	0	2	5	rs779679778		C3N-01823_TP	C3N-01823_NB	C	C																c.1036G>T	p.Ala346Ser	p.A346S	ENST00000394634	9/13	506	447	59	336	335	1	strelka-varscan-mutect	CFI,missense_variant,p.Ala346Ser,ENST00000394634,NM_000204.3;CFI,missense_variant,p.Ala354Ser,ENST00000394635,NM_001318057.1;CFI,missense_variant,p.Ala339Ser,ENST00000512148,;CFI,missense_variant,p.Ala346Ser,ENST00000618244,;CFI,non_coding_transcript_exon_variant,,ENST00000504853,;CFI,upstream_gene_variant,,ENST00000515512,;	A	ENST00000394634	Transcript	missense_variant	1244/2159	1036/1752	346/583	A/S	Gca/Tca	rs779679778	1		-1	CFI	HGNC	HGNC:5394	protein_coding	YES	CCDS34049.1	ENSP00000378130	P05156		UPI0000D615A9	NM_000204.3	deleterious(0)		9/13		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF197,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs779679778	.												A	3	1	83	109749507	109749507	C	A	1	0	0	0	0	1	0	0	0	3047	797	28	2		2	CFI	4	109749507	Missense_Mutation	SNP	C	C3N-01823_TP	6704511	109749507	80465048	107	27450											
FAT4	0	.	GRCh38	chr4	125451553	125451553	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggcccatgctgactgtcAgtgaaggagaagtcatggaa	12	7	14	8	1	2	3	2	2	0	1	2	5	2	4	1	3	1	1	1	3	3	0	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.10537A>T	p.Ser3513Cys	p.S3513C	ENST00000394329	9/17	396	361	35	240	240	0	strelka-varscan-mutect	FAT4,missense_variant,p.Ser3513Cys,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,missense_variant,p.Ser1811Cys,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;	T	ENST00000394329	Transcript	missense_variant	10550/16123	10537/14946	3513/4981	S/C	Agt/Tgt		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	deleterious(0.05)		9/17		PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	83	125451553	125451553	A	T	1	0	0	0	0	1	0	0	0	5552	188	7	4		4	FAT4	4	125451553	Missense_Mutation	SNP	A	C3N-01823_TP	15702046	125451553	64763002	108	27451											
PCDH10	0	.	GRCh38	chr4	133152635	133152635	+	Frame_Shift_Del	DEL	C	C	-																															gacccctgagtccgccaagaCcgacctgatgtttcttaagc																								novel		C3N-01823_TP	C3N-01823_NB	C	C																c.2496delC	p.Asp833ThrfsTer2	p.D833Tfs*2	ENST00000264360	1/5	213	174	39	148	148	0	sindel-varindel-pindel	PCDH10,frameshift_variant,p.Asp833ThrfsTer2,ENST00000264360,NM_032961.2;PCDH10,frameshift_variant,p.Asp833ThrfsTer2,ENST00000618019,NM_020815.2;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;PCDH10,upstream_gene_variant,,ENST00000511112,;	-	ENST00000264360	Transcript	frameshift_variant	3321/8489	2495/3123	832/1040	T/X	aCc/ac		1		1	PCDH10	HGNC	HGNC:13404	protein_coding	YES	CCDS34063.1	ENSP00000264360	Q9P2E7	X5D999	UPI0000161C61	NM_032961.2			1/5		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF0																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	83	133152635	133152635	C	-	1	0	1	0	1	0	0	0	0	11594	507	18	0		0	PCDH10	4	133152635	Frame_Shift_Del	DEL	C	C3N-01823_TP	7701082	133152635	57061920	109	27452											
SMARCA5	0	.	GRCh38	chr4	143546872	143546872	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatatagcaagagaagtaGaaggcaaaactccagaagaa	23	4	9	5	0	0	4	0	0	0	4	1	5	1	4	1	1	2	3	1	1	12	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2617G>C	p.Glu873Gln	p.E873Q	ENST00000283131	20/24	172	154	18	180	180	0	strelka-varscan-mutect	SMARCA5,missense_variant,p.Glu873Gln,ENST00000283131,NM_003601.3;SMARCA5,downstream_gene_variant,,ENST00000515531,;SMARCA5,upstream_gene_variant,,ENST00000508573,;	C	ENST00000283131	Transcript	missense_variant	3079/7923	2617/3159	873/1052	E/Q	Gaa/Caa		1		1	SMARCA5	HGNC	HGNC:11101	protein_coding	YES	CCDS3761.1	ENSP00000283131	O60264		UPI000006E693	NM_003601.3	tolerated(0.16)		20/24		PROSITE_profiles:PS51293,Gene3D:1.10.10.60,SMART_domains:SM00717,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	143546872	143546872	G	C	1	0	0	0	0	1	0	0	0	15064	943	33	4		4	SMARCA5	4	143546872	Missense_Mutation	SNP	G	C3N-01823_TP	10394237	143546872	46667683	110	27453											
DCHS2	0	.	GRCh38	chr4	154236918	154236918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatatgtgttttcacgggtCcagtcatggtcgatgtttga	8	15	11	7	2	2	1	2	1	0	0	4	2	3	1	1	2	0	2	1	2	1	4			C3N-01823_TP	C3N-01823_NB	C	C																c.6369G>T	p.Trp2123Cys	p.W2123C	ENST00000623607	25/25	360	338	22	196	196	0	strelka-varscan-mutect	DCHS2,missense_variant,p.Trp2123Cys,ENST00000357232,;DCHS2,missense_variant,p.Trp2123Cys,ENST00000623607,NM_017639.3;RP11-9N12.2,non_coding_transcript_exon_variant,,ENST00000625026,;RP11-290O12.2,intron_variant,,ENST00000624941,;RP11-290O12.2,intron_variant,,ENST00000623325,;	A	ENST00000623607	Transcript	missense_variant	6369/8912	6369/8751	2123/2916	W/C	tgG/tgT	COSM3775632,COSM4676463	1		-1	DCHS2	HGNC	HGNC:23111	protein_coding	YES	CCDS3785.1	ENSP00000485514	Q6V1P9		UPI000035B018	NM_017639.3	deleterious(0)		25/25		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF305,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	83	154236918	154236918	C	A	1	0	0	0	0	1	0	0	0	4091	856	30	2		2	DCHS2	4	154236918	Missense_Mutation	SNP	C	C3N-01823_TP	10690046	154236918	35977637	111	27454											
DCHS2	0	.	GRCh38	chr4	154490331	154490331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccgccgccgctacccgccCcaggcacttgccgggcgcgg	3	3	13	22	7	0	0	0	0	0	0	0	0	0	0	8	3	2	2	8	3	1	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1025G>A	p.Gly342Glu	p.G342E	ENST00000339452	1/8	378	344	34	266	266	0	strelka-varscan-mutect	DCHS2,missense_variant,p.Gly342Glu,ENST00000339452,NM_001142552.1;DCHS2,non_coding_transcript_exon_variant,,ENST00000456341,;	T	ENST00000339452	Transcript	missense_variant	1386/5064	1025/4110	342/1369	G/E	gGg/gAg		1		-1	DCHS2	HGNC	HGNC:23111	protein_coding		CCDS47150.1	ENSP00000345062		A0A0A0MRC0	UPI00002372F1	NM_001142552.1	tolerated_low_confidence(0.08)		1/8		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,Low_complexity_(Seg):seg,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	154490331	154490331	C	T	1	0	0	0	0	1	0	0	0	4091	623	22	3		3	DCHS2	4	154490331	Missense_Mutation	SNP	C	C3N-01823_TP	253413	154490331	35724224	112	27455											
PLRG1	0	.	GRCh38	chr4	154544482	154544482	+	Frame_Shift_Del	DEL	G	G	-																															gtgggtgccactggggttttGgcattgtaggggctttttta																								novel		C3N-01823_TP	C3N-01823_NB	G	G																c.557delC	p.Pro186GlnfsTer43	p.P186Qfs*43	ENST00000499023	7/15	296	270	26	233	233	0	sindel-varindel-pindel	PLRG1,frameshift_variant,p.Pro186GlnfsTer43,ENST00000499023,NM_002669.3;PLRG1,frameshift_variant,p.Pro177GlnfsTer43,ENST00000302078,NM_001201564.1;PLRG1,frameshift_variant,p.Pro184GlnfsTer?,ENST00000504341,;RNU6-1285P,upstream_gene_variant,,ENST00000363480,;PLRG1,3_prime_UTR_variant,,ENST00000506192,;PLRG1,non_coding_transcript_exon_variant,,ENST00000506918,;PLRG1,upstream_gene_variant,,ENST00000506627,;PLRG1,downstream_gene_variant,,ENST00000503751,;PLRG1,downstream_gene_variant,,ENST00000512719,;PLRG1,downstream_gene_variant,,ENST00000515520,;PLRG1,downstream_gene_variant,,ENST00000509975,;PLRG1,upstream_gene_variant,,ENST00000507125,;	-	ENST00000499023	Transcript	frameshift_variant	684/3351	557/1545	186/514	P/X	cCa/ca		1		-1	PLRG1	HGNC	HGNC:9089	protein_coding	YES	CCDS34083.1	ENSP00000424417	O43660		UPI0000070B39	NM_002669.3			7/15		hmmpanther:PTHR19923,hmmpanther:PTHR19923:SF0																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	83	154544482	154544482	G	-	1	0	1	0	1	0	0	0	0	12214	1348	47	0		0	PLRG1	4	154544482	Frame_Shift_Del	DEL	G	C3N-01823_TP	54151	154544482	35670073	113	27456											
RAPGEF2	0	.	GRCh38	chr4	159346806	159346806	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgcctaagaatcctggtGacaaaaagcctgtcaaatcc	14	8	8	11	0	1	2	1	1	0	1	3	2	3	2	4	1	2	0	4	1	5	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.3037G>C	p.Asp1013His	p.D1013H	ENST00000264431	19/24	193	158	35	147	147	0	strelka-varscan-mutect	RAPGEF2,missense_variant,p.Asp1013His,ENST00000264431,NM_014247.2;RAPGEF2,missense_variant,p.Asp45His,ENST00000510253,;RAPGEF2,missense_variant,p.Asp119His,ENST00000502485,;RAPGEF2,upstream_gene_variant,,ENST00000505026,;	C	ENST00000264431	Transcript	missense_variant	3456/6949	3037/4500	1013/1499	D/H	Gac/Cac		1		1	RAPGEF2	HGNC	HGNC:16854	protein_coding	YES	CCDS43277.1	ENSP00000264431	Q9Y4G8		UPI0000033783	NM_014247.2	tolerated(0.06)		19/24		hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF217,Superfamily_domains:0041591																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	159346806	159346806	G	C	1	0	0	0	0	1	0	0	0	13203	1290	45	4		4	RAPGEF2	4	159346806	Missense_Mutation	SNP	G	C3N-01823_TP	4802324	159346806	30867749	114	27457											
MARCH1	0	.	GRCh38	chr4	163612309	163612309	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagacccatcgtcataggtGgcaggaggcttctgaacagg	10	8	13	10	1	3	2	2	1	1	1	4	3	3	3	1	5	1	2	1	5	2	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.972C>A	p.=	p.A324A	ENST00000514618	7/10	105	95	10	76	76	0	strelka-varscan-mutect	MARCH1,synonymous_variant,p.=,ENST00000514618,;MARCH1,intron_variant,,ENST00000503008,NM_001166373.1;MARCH1,intron_variant,,ENST00000274056,;MARCH1,intron_variant,,ENST00000339875,NM_017923.3;MARCH1,intron_variant,,ENST00000507270,;MARCH1,non_coding_transcript_exon_variant,,ENST00000512214,;MARCH1,intron_variant,,ENST00000510786,;MARCH1,intron_variant,,ENST00000505517,;MARCH1,downstream_gene_variant,,ENST00000511245,;MARCH1,downstream_gene_variant,,ENST00000510696,;	T	ENST00000514618	Transcript	synonymous_variant	1460/3903	972/1638	324/545	A	gcC/gcA		1		-1	MARCH1	HGNC	HGNC:26077	protein_coding			ENSP00000421322		D6RGC4	UPI0001D3B97D				7/10		hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF53																	LOW		SNV	5			1										PASS		.	.												T	2	4	83	163612309	163612309	G	T	1	0	0	0	0	0	0	0	1	9223	1335	47	2		2	MARCH1	4	163612309	Silent	SNP	G	C3N-01823_TP	4265503	163612309	26602246	115	27458											
SPOCK3	0	.	GRCh38	chr4	166912713	166912713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatatgggacccctccaCtgcctatggtctactcctgc	8	11	8	14	0	1	0	0	0	1	0	3	2	3	1	5	2	3	0	5	2	4	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.390G>T	p.Gln130His	p.Q130H	ENST00000357154	6/12	227	189	38	201	200	1	strelka-varscan-mutect	SPOCK3,missense_variant,p.Gln79His,ENST00000421836,NM_001204352.1;SPOCK3,missense_variant,p.Gln130His,ENST00000357154,NM_016950.2;SPOCK3,missense_variant,p.Gln130His,ENST00000506886,;SPOCK3,missense_variant,p.Gln127His,ENST00000357545,NM_001040159.1;SPOCK3,missense_variant,p.Gln130His,ENST00000511531,;SPOCK3,missense_variant,p.Gln127His,ENST00000504953,;SPOCK3,missense_variant,p.Gln10His,ENST00000541354,NM_001204355.1,NM_001204353.1;SPOCK3,missense_variant,p.Gln130His,ENST00000502330,;SPOCK3,missense_variant,p.Gln38His,ENST00000535728,NM_001204354.1;SPOCK3,missense_variant,p.Gln127His,ENST00000510741,NM_001204356.1;SPOCK3,missense_variant,p.Gln127His,ENST00000511269,;SPOCK3,missense_variant,p.Gln127His,ENST00000512648,NM_001204358.1;SPOCK3,missense_variant,p.Gln127His,ENST00000509854,;SPOCK3,intron_variant,,ENST00000512681,NM_001251967.1;SPOCK3,intron_variant,,ENST00000510403,;SPOCK3,3_prime_UTR_variant,,ENST00000502821,;SPOCK3,3_prime_UTR_variant,,ENST00000511905,;SPOCK3,3_prime_UTR_variant,,ENST00000505187,;SPOCK3,3_prime_UTR_variant,,ENST00000507370,;SPOCK3,3_prime_UTR_variant,,ENST00000511226,;SPOCK3,3_prime_UTR_variant,,ENST00000515316,;SPOCK3,intron_variant,,ENST00000502741,;SPOCK3,intron_variant,,ENST00000507086,;SPOCK3,intron_variant,,ENST00000515143,;	A	ENST00000357154	Transcript	missense_variant	528/2986	390/1311	130/436	Q/H	caG/caT		1		-1	SPOCK3	HGNC	HGNC:13565	protein_coding	YES	CCDS54817.1	ENSP00000349677	Q9BQ16		UPI000004BA60	NM_016950.2	tolerated(0.47)		6/12		hmmpanther:PTHR22118,hmmpanther:PTHR22118:SF10,Superfamily_domains:SSF100895																	MODERATE	1	SNV	5			1										PASS		rs1355513406	.												A	3	1	83	166912713	166912713	C	A	1	0	0	0	0	1	0	0	0	15434	564	20	2		2	SPOCK3	4	166912713	Missense_Mutation	SNP	C	C3N-01823_TP	3300404	166912713	23301842	116	27459											
GALNTL6	0	.	GRCh38	chr4	172311612	172311612	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcattttgttttctcctgctAgggaaaggtgaacatgggaa	10	14	11	6	0	2	1	1	1	1	0	3	3	2	3	1	3	2	2	1	3	4	5	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.248-2A>T		p.X83_splice	ENST00000506823		82	57	25	73	73	0	strelka-varscan-mutect	GALNTL6,splice_acceptor_variant,,ENST00000506823,NM_001034845.2;GALNTL6,splice_acceptor_variant,,ENST00000508122,;GALNTL6,splice_acceptor_variant,,ENST00000457021,;	T	ENST00000506823	Transcript	splice_acceptor_variant	-/3922	248/1806	83/601				1		1	GALNTL6	HGNC	HGNC:33844	protein_coding	YES	CCDS34104.1	ENSP00000423313	Q49A17	E5D8G0	UPI000058EB5C	NM_001034845.2				3/12																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	83	172311612	172311612	A	T	1	0	0	0	0	0	0	1	0	6093	434	15	4		4	GALNTL6	4	172311612	Splice_Site	SNP	A	C3N-01823_TP	5398899	172311612	17902943	117	27460											
GPM6A	0	.	GRCh38	chr4	175701737	175701737	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaggcatagggaatgcccCccaggcatttgatacagcat	12	7	12	10	0	0	2	0	1	0	1	0	4	0	3	3	3	3	3	3	3	3	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.68G>C	p.Gly23Ala	p.G23A	ENST00000280187	3/8	221	161	60	171	171	0	strelka-varscan-mutect	GPM6A,missense_variant,p.Gly23Ala,ENST00000280187,NM_005277.4;GPM6A,missense_variant,p.Gly23Ala,ENST00000393658,NM_201591.2;GPM6A,missense_variant,p.Gly12Ala,ENST00000506894,NM_201592.2;GPM6A,missense_variant,p.Gly16Ala,ENST00000515090,NM_001261448.1;GPM6A,missense_variant,p.Gly15Ala,ENST00000503397,;GPM6A,missense_variant,p.Gly23Ala,ENST00000513365,;GPM6A,missense_variant,p.Gly16Ala,ENST00000505304,;GPM6A,5_prime_UTR_variant,,ENST00000505561,;GPM6A,5_prime_UTR_variant,,ENST00000502754,;GPM6A,5_prime_UTR_variant,,ENST00000512897,;GPM6A,5_prime_UTR_variant,,ENST00000512610,;GPM6A,5_prime_UTR_variant,,ENST00000513667,;GPM6A,5_prime_UTR_variant,,ENST00000507540,;GPM6A,5_prime_UTR_variant,,ENST00000507520,;GPM6A,5_prime_UTR_variant,,ENST00000512509,;GPM6A,5_prime_UTR_variant,,ENST00000505375,;GPM6A,5_prime_UTR_variant,,ENST00000509865,;	G	ENST00000280187	Transcript	missense_variant	114/2854	68/837	23/278	G/A	gGg/gCg		1		-1	GPM6A	HGNC	HGNC:4460	protein_coding	YES	CCDS3824.1	ENSP00000280187	P51674		UPI000012EAE1	NM_005277.4	tolerated(0.25)		3/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR11683,hmmpanther:PTHR11683:SF4,Pfam_domain:PF01275,Prints_domain:PR00214																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	83	175701737	175701737	C	G	1	0	0	0	0	1	0	0	0	6517	623	22	4		4	GPM6A	4	175701737	Missense_Mutation	SNP	C	C3N-01823_TP	3390125	175701737	14512818	118	27461											
GPM6A	0	.	GRCh38	chr4	175787341	175787341	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccttgaccttaccttccAggtctgtcataaaagtgtga	10	12	7	12	0	2	2	1	2	1	0	3	2	3	2	4	1	1	0	4	1	3	4	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.11T>A	p.Leu4Gln	p.L4Q	ENST00000515090	1/7	295	215	80	209	209	0	strelka-varscan-mutect	GPM6A,missense_variant,p.Leu4Gln,ENST00000515090,NM_001261448.1;GPM6A,missense_variant,p.Leu4Gln,ENST00000505304,;GPM6A,5_prime_UTR_variant,,ENST00000507520,;GPM6A,intron_variant,,ENST00000280187,NM_005277.4;GPM6A,intron_variant,,ENST00000393658,NM_201591.2;GPM6A,intron_variant,,ENST00000506894,NM_201592.2;GPM6A,intron_variant,,ENST00000503397,;GPM6A,intron_variant,,ENST00000513365,;GPM6A,intron_variant,,ENST00000505561,;GPM6A,intron_variant,,ENST00000502754,;GPM6A,intron_variant,,ENST00000512897,;GPM6A,intron_variant,,ENST00000512610,;GPM6A,intron_variant,,ENST00000513667,;GPM6A,intron_variant,,ENST00000507540,;GPM6A,intron_variant,,ENST00000512509,;GPM6A,intron_variant,,ENST00000505375,;GPM6A,intron_variant,,ENST00000509865,;RP11-806K15.1,upstream_gene_variant,,ENST00000514864,;	T	ENST00000515090	Transcript	missense_variant	336/1500	11/816	4/271	L/Q	cTg/cAg		1		-1	GPM6A	HGNC	HGNC:4460	protein_coding		CCDS58936.1	ENSP00000423984	P51674		UPI0001915004	NM_001261448.1	tolerated_low_confidence(0.47)		1/7																			MODERATE		SNV	2			1										PASS		.	.												T	3	4	83	175787341	175787341	A	T	1	0	0	0	0	1	0	0	0	6517	202	7	4		4	GPM6A	4	175787341	Missense_Mutation	SNP	A	C3N-01823_TP	85604	175787341	14427214	119	27462											
FAT1	0	.	GRCh38	chr4	186709175	186709175	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcgaggatttccatctcaTagagcttggtctctaggtaa	10	12	10	9	1	2	1	1	0	2	1	5	3	3	2	1	3	2	2	1	3	3	5	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.653A>G	p.Tyr218Cys	p.Y218C	ENST00000441802	2/27	206	195	11	154	154	0	strelka-varscan-mutect	FAT1,missense_variant,p.Tyr218Cys,ENST00000441802,NM_005245.3;FAT1,missense_variant,p.Tyr218Cys,ENST00000614102,;FAT1,missense_variant,p.Tyr218Cys,ENST00000509647,;	C	ENST00000441802	Transcript	missense_variant	863/14786	653/13767	218/4588	Y/C	tAt/tGt		1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3	deleterious(0)		2/27		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	83	186709175	186709175	T	C	1	0	0	0	0	1	0	0	0	5549	1406	49	5		5	FAT1	4	186709175	Missense_Mutation	SNP	T	C3N-01823_TP	10921834	186709175	3505380	120	27463											
FRG2	0	.	GRCh38	chr4	190026037	190026037	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgattttttattcaatgAcaagctgcactccttttctg	8	19	5	9	0	3	2	1	2	2	0	4	2	4	2	1	0	2	2	1	0	3	7			C3N-01823_TP	C3N-01823_NB	A	A																c.364T>A	p.Ser122Thr	p.S122T	ENST00000504750	4/4	131	124	7	117	116	1	varscan-mutect	FRG2,missense_variant,p.Ser122Thr,ENST00000504750,NM_001286820.1;FRG2,missense_variant,p.Ser121Thr,ENST00000378763,NM_001005217.1;DUX4L9,upstream_gene_variant,,ENST00000449051,;	T	ENST00000504750	Transcript	missense_variant	414/2100	364/840	122/279	S/T	Tca/Aca	COSM4331533	1		-1	FRG2	HGNC	HGNC:19136	protein_coding	YES	CCDS68834.1	ENSP00000424015	Q64ET8		UPI0001D3BA7C	NM_001286820.1	tolerated(1)		4/4		hmmpanther:PTHR31883,hmmpanther:PTHR31883:SF3,Pfam_domain:PF15315											1						MODERATE	1	SNV	1		1	1										PASS		rs1244587355	.												T	3	4	83	190026037	190026037	A	T	1	0	0	0	0	1	0	0	0	5915	275	10	4		4	FRG2	4	190026037	Missense_Mutation	SNP	A	C3N-01823_TP	3316862	190026037	188518	121	27464											
ADAMTS16	0	.	GRCh38	chr5	5232378	5232378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaattttagtggtgccgggGaggacagtgtgtgaaatatg	12	11	15	3	1	0	1	0	1	0	0	0	3	0	3	1	4	1	0	1	4	5	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1712G>T	p.Gly571Val	p.G571V	ENST00000274181	12/23	302	281	21	180	180	0	strelka-varscan-mutect	ADAMTS16,missense_variant,p.Gly571Val,ENST00000274181,NM_139056.2;ADAMTS16,upstream_gene_variant,,ENST00000513709,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	T	ENST00000274181	Transcript	missense_variant	1850/4979	1712/3675	571/1224	G/V	gGa/gTa		1		1	ADAMTS16	HGNC	HGNC:17108	protein_coding	YES	CCDS43299.1	ENSP00000274181	Q8TE57		UPI00004572CA	NM_139056.2	tolerated(0.07)		12/23		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	83	5232378	5232378	G	T	1	0	0	0	0	1	0	0	0	305	1174	41	2		2	ADAMTS16	5	5232378	Missense_Mutation	SNP	G	C3N-01823_TP		5232378	176305881	122	27465											
ICE1	0	.	GRCh38	chr5	5462746	5462746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatttaggagacacagatGctgctgtagccgaggtgaga	14	8	13	6	1	0	3	0	1	0	3	0	6	0	3	1	2	3	3	1	2	4	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.3412G>T	p.Ala1138Ser	p.A1138S	ENST00000296564	13/19	328	299	29	208	207	1	strelka-varscan-mutect	ICE1,missense_variant,p.Ala1138Ser,ENST00000296564,NM_015325.2;	T	ENST00000296564	Transcript	missense_variant	3634/7927	3412/6801	1138/2266	A/S	Gct/Tct		1		1	ICE1	HGNC	HGNC:29154	protein_coding	YES	CCDS47187.1	ENSP00000296564	Q9Y2F5		UPI00015542F9	NM_015325.2	deleterious(0.02)		13/19		hmmpanther:PTHR11852:SF4,hmmpanther:PTHR11852																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	5462746	5462746	G	T	1	0	0	0	0	1	0	0	0	7384	1319	46	2		2	ICE1	5	5462746	Missense_Mutation	SNP	G	C3N-01823_TP	230368	5462746	176075513	123	27466											
CTNND2	0	.	GRCh38	chr5	11018016	11018016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcggtactgccacatgctGttgaggacctgagatgcagc	8	10	12	11	1	1	2	0	2	1	1	2	4	1	3	2	2	5	4	2	2	1	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.3042C>A	p.Asn1014Lys	p.N1014K	ENST00000304623	18/22	281	252	29	185	184	1	strelka-varscan-mutect	CTNND2,missense_variant,p.Asn1014Lys,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Asn923Lys,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.Asn677Lys,ENST00000503622,NM_001288716.1;CTNND2,missense_variant,p.Asn109Lys,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,non_coding_transcript_exon_variant,,ENST00000506324,;CTNND2,missense_variant,p.Asn793Lys,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	T	ENST00000304623	Transcript	missense_variant	3232/5481	3042/3678	1014/1225	N/K	aaC/aaA		1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	deleterious(0.01)		18/22		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,SMART_domains:SM00185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	11018016	11018016	G	T	1	0	0	0	0	1	0	0	0	3829	1368	48	2		2	CTNND2	5	11018016	Missense_Mutation	SNP	G	C3N-01823_TP	5555270	11018016	170520243	124	27467											
ADAMTS12	0	.	GRCh38	chr5	33561066	33561066	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccagccagcacagggacgGaggtggcatctttttgcagg	8	9	14	10	1	1	0	0	0	1	0	2	2	2	2	2	5	3	3	2	5	0	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.4086C>A	p.=	p.L1362L	ENST00000504830	20/24	233	188	45	173	173	0	strelka-varscan-mutect	ADAMTS12,synonymous_variant,p.=,ENST00000504830,NM_030955.2;ADAMTS12,synonymous_variant,p.=,ENST00000352040,;	T	ENST00000504830	Transcript	synonymous_variant	4422/8774	4086/4785	1362/1594	L	ctC/ctA		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2			20/24		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,SMART_domains:SM00209,Superfamily_domains:SSF82895,Superfamily_domains:SSF82895																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	33561066	33561066	G	T	1	0	0	0	0	0	0	0	1	301	1161	41	2		2	ADAMTS12	5	33561066	Silent	SNP	G	C3N-01823_TP	22543050	33561066	147977193	125	27468											
MROH2B	0	.	GRCh38	chr5	41067164	41067164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcgttggacaattgcatCatccaagatgtcagtattct	12	13	7	9	1	3	1	2	0	1	1	5	2	4	2	1	1	1	3	1	1	4	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.145G>T	p.Asp49Tyr	p.D49Y	ENST00000399564	3/42	337	305	32	295	295	0	strelka-varscan-mutect	MROH2B,missense_variant,p.Asp49Tyr,ENST00000399564,NM_173489.4;MROH2B,non_coding_transcript_exon_variant,,ENST00000508575,;	A	ENST00000399564	Transcript	missense_variant	596/5239	145/4758	49/1585	D/Y	Gat/Tat		1		-1	MROH2B	HGNC	HGNC:26857	protein_coding	YES	CCDS47202.1	ENSP00000382476	Q7Z745		UPI000020CA04	NM_173489.4	deleterious(0.01)		3/42		Gene3D:1.25.10.10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	41067164	41067164	C	A	1	0	0	0	0	1	0	0	0	9745	826	29	2		2	MROH2B	5	41067164	Missense_Mutation	SNP	C	C3N-01823_TP	7506098	41067164	140471095	126	27469											
CDC20B	0	.	GRCh38	chr5	55119830	55119830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacctgacctggacacagtgGgacaggtccacacagtcaca	12	5	10	14	0	1	1	1	1	0	0	2	3	2	3	3	3	0	0	3	3	0	0			C3N-01823_TP	C3N-01823_NB	G	G																c.1430C>A	p.Pro477His	p.P477H	ENST00000381375	11/12	357	243	114	189	188	1	strelka-varscan-mutect	CDC20B,missense_variant,p.Pro477His,ENST00000296733,NM_152623.2;CDC20B,missense_variant,p.Pro477His,ENST00000381375,NM_001170402.1;CDC20B,missense_variant,p.Pro435His,ENST00000322374,NM_001145734.2;CDC20B,3_prime_UTR_variant,,ENST00000513180,;	T	ENST00000381375	Transcript	missense_variant	1576/2591	1430/1560	477/519	P/H	cCc/cAc	COSM5081488,COSM5081489	1		-1	CDC20B	HGNC	HGNC:24222	protein_coding	YES	CCDS54852.1	ENSP00000370781	Q86Y33		UPI0000D61625	NM_001170402.1	deleterious(0)		11/12		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR19918,hmmpanther:PTHR19918:SF4,Superfamily_domains:SSF50978											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	83	55119830	55119830	G	T	1	0	0	0	0	1	0	0	0	2763	1232	43	2		2	CDC20B	5	55119830	Missense_Mutation	SNP	G	C3N-01823_TP	14052666	55119830	126418429	127	27470											
ZNF366	0	.	GRCh38	chr5	72460340	72460340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggatggggccccggtgcGtggtgaggtgtctcttcagc	4	10	17	10	2	2	1	1	1	1	0	3	2	2	2	2	6	2	0	2	6	0	1			C3N-01823_TP	C3N-01823_NB	G	G																c.1157C>A	p.Thr386Lys	p.T386K	ENST00000318442	2/5	279	201	78	210	210	0	strelka-varscan-mutect	ZNF366,missense_variant,p.Thr386Lys,ENST00000318442,NM_152625.2;ZNF366,downstream_gene_variant,,ENST00000414109,;ZNF366,downstream_gene_variant,,ENST00000514477,;	T	ENST00000318442	Transcript	missense_variant	1648/3830	1157/2235	386/744	T/K	aCg/aAg	COSM4757239	1		-1	ZNF366	HGNC	HGNC:18316	protein_coding	YES	CCDS4015.1	ENSP00000313158	Q8N895		UPI000013C368	NM_152625.2	deleterious(0.02)		2/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24390:SF38,hmmpanther:PTHR24390,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	83	72460340	72460340	G	T	1	0	0	0	0	1	0	0	0	18442	1145	40	1		1	ZNF366	5	72460340	Missense_Mutation	SNP	G	C3N-01823_TP	17340510	72460340	109077919	128	27471											
ZFYVE16	0	.	GRCh38	chr5	80437441	80437441	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgctttgactcgacaaagTtccaaaatgtttcatgccaa	12	13	6	10	1	2	1	1	1	1	0	4	2	3	1	2	0	2	3	2	0	4	3	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.756T>G	p.Ser252Arg	p.S252R	ENST00000338008	3/18	123	111	12	65	65	0	strelka-varscan-mutect	ZFYVE16,missense_variant,p.Ser252Arg,ENST00000338008,NM_014733.4;ZFYVE16,missense_variant,p.Ser252Arg,ENST00000510158,NM_001105251.2;ZFYVE16,missense_variant,p.Ser252Arg,ENST00000505560,NM_001284236.1;ZFYVE16,downstream_gene_variant,,ENST00000509562,;ZFYVE16,upstream_gene_variant,,ENST00000511050,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000512558,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000510995,;	G	ENST00000338008	Transcript	missense_variant	936/6773	756/4620	252/1539	S/R	agT/agG		1		1	ZFYVE16	HGNC	HGNC:20756	protein_coding	YES	CCDS4050.1	ENSP00000337159	Q7Z3T8		UPI000013F4A0	NM_014733.4	deleterious(0.02)		3/18		hmmpanther:PTHR22835:SF43,hmmpanther:PTHR22835,PIRSF_domain:PIRSF037289																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	83	80437441	80437441	T	G	1	0	0	0	0	1	0	0	0	18242	1722	60	5		5	ZFYVE16	5	80437441	Missense_Mutation	SNP	T	C3N-01823_TP	7977101	80437441	101100818	129	27472											
ACOT12	0	.	GRCh38	chr5	81330890	81330890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgatgtactgtggagacGgggggaccgatggcaaaatg	10	9	16	6	2	1	2	0	1	1	1	1	5	1	3	1	5	1	2	1	5	3	2	rs151004328		C3N-01823_TP	C3N-01823_NB	G	G																c.1442C>A	p.Pro481Gln	p.P481Q	ENST00000307624	14/15	115	83	32	89	89	0	strelka-varscan-mutect	ACOT12,missense_variant,p.Pro481Gln,ENST00000307624,NM_130767.2;ACOT12,non_coding_transcript_exon_variant,,ENST00000508234,;ACOT12,non_coding_transcript_exon_variant,,ENST00000506440,;	T	ENST00000307624	Transcript	missense_variant	1471/2086	1442/1668	481/555	P/Q	cCg/cAg	rs151004328	1		-1	ACOT12	HGNC	HGNC:24436	protein_coding	YES	CCDS4055.1	ENSP00000303246	Q8WYK0		UPI0000126D7B	NM_130767.2	deleterious(0.04)		14/15		Gene3D:3.30.530.20,Pfam_domain:PF01852,PROSITE_profiles:PS50848,hmmpanther:PTHR11049,hmmpanther:PTHR11049:SF3,Superfamily_domains:SSF55961																	MODERATE	1	SNV	1			1										PASS		rs151004328	.												T	3	4	83	81330890	81330890	G	T	1	0	0	0	0	1	0	0	0	192	1116	39	1		1	ACOT12	5	81330890	Missense_Mutation	SNP	G	C3N-01823_TP	893449	81330890	100207369	130	27473											
XRCC4	0	.	GRCh38	chr5	83204829	83204829	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctagggaaactgcaatctGttctgaaatgactgctgacc	11	12	9	9	0	3	3	0	3	3	0	3	4	3	4	1	1	3	3	1	1	4	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.653G>C	p.Cys218Ser	p.C218S	ENST00000511817	6/8	157	142	15	133	133	0	strelka-varscan-mutect	XRCC4,missense_variant,p.Cys218Ser,ENST00000282268,NM_001318012.1,NM_022550.2,NM_003401.3;XRCC4,missense_variant,p.Cys218Ser,ENST00000511817,;XRCC4,missense_variant,p.Cys218Ser,ENST00000338635,NM_022406.2;XRCC4,missense_variant,p.Cys218Ser,ENST00000396027,;XRCC4,non_coding_transcript_exon_variant,,ENST00000509268,;XRCC4,non_coding_transcript_exon_variant,,ENST00000542685,;CTD-2110K23.1,downstream_gene_variant,,ENST00000468914,;	C	ENST00000511817	Transcript	missense_variant	733/1636	653/1011	218/336	C/S	tGt/tCt		1		1	XRCC4	HGNC	HGNC:12831	protein_coding	YES	CCDS4059.1	ENSP00000421491	Q13426	A0A024RAQ8	UPI000006DF4E		tolerated(0.83)		6/8		Pfam_domain:PF06632,hmmpanther:PTHR28559																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	83204829	83204829	G	C	1	0	0	0	0	1	0	0	0	18014	1377	48	4		4	XRCC4	5	83204829	Missense_Mutation	SNP	G	C3N-01823_TP	1873939	83204829	98333430	131	27474											
VCAN	0	.	GRCh38	chr5	83512119	83512119	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgatgtgttccacctCactgtccccagtaaattcac	9	11	7	14	0	2	1	2	1	0	0	4	1	4	1	5	1	0	2	5	1	2	3	rs745476221		C3N-01823_TP	C3N-01823_NB	C	C																c.765C>A	p.=	p.L255L	ENST00000265077	6/15	326	274	52	195	194	1	strelka-varscan-mutect	VCAN,synonymous_variant,p.=,ENST00000265077,NM_004385.4;VCAN,synonymous_variant,p.=,ENST00000343200,NM_001164097.1;VCAN,synonymous_variant,p.=,ENST00000342785,NM_001164098.1;VCAN,synonymous_variant,p.=,ENST00000512590,;VCAN,synonymous_variant,p.=,ENST00000513960,;VCAN,synonymous_variant,p.=,ENST00000502527,NM_001126336.2;VCAN,synonymous_variant,p.=,ENST00000513984,;VCAN,non_coding_transcript_exon_variant,,ENST00000515397,;	A	ENST00000265077	Transcript	synonymous_variant	1330/12625	765/10191	255/3396	L	ctC/ctA	rs745476221	1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4			6/15		PROSITE_profiles:PS50963,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436,Superfamily_domains:SSF56436																	LOW	1	SNV	1			1										PASS		rs745476221	.												A	2	1	83	83512119	83512119	C	A	1	0	0	0	0	0	0	0	1	17683	813	29	2		2	VCAN	5	83512119	Silent	SNP	C	C3N-01823_TP	307290	83512119	98026140	132	27475											
VCAN	0	.	GRCh38	chr5	83539745	83539745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccaacaattcaagagtcaGatactgagctcttattctct	13	12	6	10	0	4	3	2	1	2	2	5	4	4	3	1	0	3	1	1	0	5	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.6742G>C	p.Asp2248His	p.D2248H	ENST00000265077	8/15	490	404	86	333	333	0	strelka-varscan-mutect	VCAN,missense_variant,p.Asp2248His,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Asp1261His,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	C	ENST00000265077	Transcript	missense_variant	7307/12625	6742/10191	2248/3396	D/H	Gat/Cat		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	tolerated(0.16)		8/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	83539745	83539745	G	C	1	0	0	0	0	1	0	0	0	17683	942	33	4		4	VCAN	5	83539745	Missense_Mutation	SNP	G	C3N-01823_TP	27626	83539745	97998514	133	27476											
ACSL6	0	.	GRCh38	chr5	131994087	131994087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctgcaaggcctttggccGgtgagtgaaccagtaggcaa	9	7	15	10	2	0	2	0	2	0	0	0	2	0	2	3	5	2	4	3	5	4	2	rs764258957		C3N-01823_TP	C3N-01823_NB	G	G																c.214C>G	p.Arg72Gly	p.R72G	ENST00000379264	2/21	391	311	80	256	256	0	strelka-varscan-mutect	ACSL6,missense_variant,p.Arg72Gly,ENST00000379264,NM_001009185.2;ACSL6,missense_variant,p.Arg47Gly,ENST00000379244,NM_001205248.1;ACSL6,missense_variant,p.Arg58Gly,ENST00000379246,NM_001205250.1;ACSL6,missense_variant,p.Arg72Gly,ENST00000296869,NM_015256.3,NM_001205247.1;ACSL6,missense_variant,p.Arg47Gly,ENST00000379240,;ACSL6,missense_variant,p.Arg47Gly,ENST00000543479,;ACSL6,missense_variant,p.Arg47Gly,ENST00000419502,;ACSL6,missense_variant,p.Arg47Gly,ENST00000430403,;ACSL6,missense_variant,p.Arg47Gly,ENST00000416557,;ACSL6,missense_variant,p.Arg47Gly,ENST00000414078,;ACSL6,intron_variant,,ENST00000357096,NM_001205251.1;ACSL6,intron_variant,,ENST00000379255,;ACSL6,intron_variant,,ENST00000431707,;ACSL6,intron_variant,,ENST00000434099,;ACSL6,intron_variant,,ENST00000441995,;ACSL6,non_coding_transcript_exon_variant,,ENST00000477640,;CTB-127M13.1,missense_variant,p.Arg47Gly,ENST00000413683,;ACSL6,non_coding_transcript_exon_variant,,ENST00000469164,;	C	ENST00000379264	Transcript	missense_variant	323/6539	214/2169	72/722	R/G	Cgg/Ggg	rs764258957	1		-1	ACSL6	HGNC	HGNC:16496	protein_coding	YES	CCDS34229.1	ENSP00000368566	Q9UKU0		UPI00004BA928	NM_001009185.2	tolerated(0.06)		2/21		hmmpanther:PTHR24096:SF239,hmmpanther:PTHR24096																	MODERATE	1	SNV	1			1										PASS		rs764258957	.												C	3	2	83	131994087	131994087	G	C	1	0	0	0	0	1	0	0	0	223	1115	39	4		4	ACSL6	5	131994087	Missense_Mutation	SNP	G	C3N-01823_TP	48454342	131994087	49544172	134	27477											
PCDHA1	0	.	GRCh38	chr5	140788426	140788426	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggtgtccagcctgctggtGctcacactgctgctgtacac	5	10	12	14	1	1	0	1	0	0	0	2	0	2	0	2	2	6	5	2	2	1	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2136G>T	p.=	p.V712V	ENST00000504120	1/4	435	329	106	276	276	0	strelka-varscan-mutect	PCDHA1,synonymous_variant,p.=,ENST00000504120,NM_018900.3;PCDHA1,synonymous_variant,p.=,ENST00000378133,NM_031410.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,downstream_gene_variant,,ENST00000624712,;AC005609.16,downstream_gene_variant,,ENST00000624176,;	T	ENST00000504120	Transcript	synonymous_variant	2136/5263	2136/2853	712/950	V	gtG/gtT		1		1	PCDHA1	HGNC	HGNC:8663	protein_coding	YES	CCDS54913.1	ENSP00000420840	Q9Y5I3		UPI00001273C7	NM_018900.3			1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	140788426	140788426	G	T	1	0	0	0	0	0	0	0	1	11606	1306	46	2		2	PCDHA1	5	140788426	Silent	SNP	G	C3N-01823_TP	8794339	140788426	40749833	135	27478											
PCDHB6	0	.	GRCh38	chr5	141151200	141151200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaattcagtcttatgacGtggatgttgaggctacagat	12	12	12	5	1	2	3	1	2	1	1	2	5	2	5	0	3	1	2	0	3	3	4			C3N-01823_TP	C3N-01823_NB	G	G																c.943G>A	p.Val315Met	p.V315M	ENST00000231136	1/1	454	414	40	331	330	1	strelka-varscan-mutect	PCDHB6,missense_variant,p.Val315Met,ENST00000231136,NM_018939.3;PCDHB6,missense_variant,p.Val179Met,ENST00000622991,NM_001303145.1;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;PCDHB17P,upstream_gene_variant,,ENST00000623466,;PCDHB17P,upstream_gene_variant,,ENST00000539533,;	A	ENST00000231136	Transcript	missense_variant	1179/3266	943/2385	315/794	V/M	Gtg/Atg	COSM354458	1		1	PCDHB6	HGNC	HGNC:8691	protein_coding	YES	CCDS4248.1	ENSP00000231136	Q9Y5E3		UPI0003CC25E7	NM_018939.3	tolerated_low_confidence(0.13)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	83	141151200	141151200	G	A	1	0	0	0	0	1	0	0	0	11633	1145	40	1		1	PCDHB6	5	141151200	Missense_Mutation	SNP	G	C3N-01823_TP	362774	141151200	40387059	136	27479											
PCDHB7	0	.	GRCh38	chr5	141173475	141173475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttcagtttaaccctcaccGctttagacggcggctctcct	7	12	8	14	3	3	1	2	0	1	1	4	1	3	1	3	2	1	4	3	2	2	5			C3N-01823_TP	C3N-01823_NB	G	G																c.640G>T	p.Ala214Ser	p.A214S	ENST00000231137	1/1	175	139	36	110	110	0	strelka-varscan-mutect	PCDHB7,missense_variant,p.Ala214Ser,ENST00000231137,NM_018940.3;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.4;CH17-140K24.3,downstream_gene_variant,,ENST00000623581,;AC005754.7,splice_region_variant,,ENST00000625128,;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,intron_variant,,ENST00000624802,;CH17-140K24.4,upstream_gene_variant,,ENST00000623995,;	T	ENST00000231137	Transcript	missense_variant	857/3765	640/2382	214/793	A/S	Gct/Tct	COSM4712354	1		1	PCDHB7	HGNC	HGNC:8692	protein_coding	YES	CCDS4249.1	ENSP00000231137	Q9Y5E2		UPI00001273E3	NM_018940.3	deleterious_low_confidence(0)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE		SNV			1	1										PASS		.	.												T	3	4	83	141173475	141173475	G	T	1	0	0	0	0	1	0	0	0	11634	1087	38	1		1	PCDHB7	5	141173475	Missense_Mutation	SNP	G	C3N-01823_TP	22275	141173475	40364784	137	27480											
PCDHB8	0	.	GRCh38	chr5	141178476	141178476	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaagtatcagagagcagtCctcctgggactgcgtttcct	9	11	11	10	1	1	2	1	1	0	1	4	4	4	3	3	1	2	3	3	1	2	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.442C>A	p.Pro148Thr	p.P148T	ENST00000239444	1/1	605	492	113	462	459	3	strelka-varscan-mutect	PCDHB8,missense_variant,p.Pro148Thr,ENST00000239444,NM_019120.4;PCDHB16,upstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.3;PCDHB16,upstream_gene_variant,,ENST00000625044,;CH17-140K24.5,upstream_gene_variant,,ENST00000623884,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,downstream_gene_variant,,ENST00000624549,;AC005754.7,upstream_gene_variant,,ENST00000625128,;AC005754.7,upstream_gene_variant,,ENST00000624802,;CH17-140K24.4,intron_variant,,ENST00000623995,;CH17-140K24.5,upstream_gene_variant,,ENST00000623407,;	A	ENST00000239444	Transcript	missense_variant	687/2740	442/2406	148/801	P/T	Cct/Act		1		1	PCDHB8	HGNC	HGNC:8693	protein_coding	YES	CCDS4250.1	ENSP00000239444	Q9UN66		UPI000192C41A	NM_019120.4	tolerated_low_confidence(0.55)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												A	3	1	83	141178476	141178476	C	A	1	0	0	0	0	1	0	0	0	11635	855	30	2		2	PCDHB8	5	141178476	Missense_Mutation	SNP	C	C3N-01823_TP	5001	141178476	40359783	138	27481											
TIMD4	0	.	GRCh38	chr5	156920478	156920478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattaccttgtgtgtttctgCgaacaataggtttccatgag	9	15	10	7	1	1	1	0	1	1	0	2	3	2	1	2	1	3	2	2	1	4	5	rs145512953		C3N-01823_TP	C3N-01823_NB	C	C																c.1038G>A	p.=	p.S346S	ENST00000274532	8/9	301	246	55	201	201	0	strelka-varscan-mutect	TIMD4,synonymous_variant,p.=,ENST00000274532,NM_138379.2;TIMD4,synonymous_variant,p.=,ENST00000407087,NM_001146726.1;TIMD4,synonymous_variant,p.=,ENST00000406964,;APOOP1,upstream_gene_variant,,ENST00000604695,;	T	ENST00000274532	Transcript	synonymous_variant	1095/1369	1038/1137	346/378	S	tcG/tcA	rs145512953	1		-1	TIMD4	HGNC	HGNC:25132	protein_coding	YES	CCDS4332.1	ENSP00000274532	Q96H15		UPI000013DA13	NM_138379.2			8/9		hmmpanther:PTHR15498,hmmpanther:PTHR15498:SF29																	LOW	1	SNV	1			1										PASS		rs145512953	.												T	2	4	83	156920478	156920478	C	T	1	0	0	0	0	0	0	0	1	16341	755	27	1		1	TIMD4	5	156920478	Silent	SNP	C	C3N-01823_TP	15742002	156920478	24617781	139	27482											
TENM2	0	.	GRCh38	chr5	168062224	168062224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgggaaggacgctctctttGgtgtttacataagaagagga	11	11	13	6	2	1	2	0	0	1	2	3	5	1	5	0	4	1	2	0	4	4	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1474G>T	p.Gly492Cys	p.G492C	ENST00000518659	7/29	405	342	63	170	170	0	strelka-varscan-mutect	TENM2,missense_variant,p.Gly371Cys,ENST00000519204,;TENM2,missense_variant,p.Gly492Cys,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Gly260Cys,ENST00000520394,;	T	ENST00000518659	Transcript	missense_variant	1513/8550	1474/8325	492/2774	G/C	Ggt/Tgt		1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1	deleterious(0)		7/29		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	83	168062224	168062224	G	T	1	0	0	0	0	1	0	0	0	16172	1348	47	2		2	TENM2	5	168062224	Missense_Mutation	SNP	G	C3N-01823_TP	11141746	168062224	13476035	140	27483											
SLIT3	0	.	GRCh38	chr5	168753907	168753907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaacacgcgcccgtgcaCggtctccagctggttccctg	6	7	12	16	5	1	0	0	0	1	0	3	1	2	1	3	3	3	3	3	3	1	1	rs562240210		C3N-01823_TP	C3N-01823_NB	C	C																c.1786G>T	p.Val596Leu	p.V596L	ENST00000332966	17/36	239	214	25	155	155	0	strelka-varscan-mutect	SLIT3,missense_variant,p.Val596Leu,ENST00000519560,NM_003062.3;SLIT3,missense_variant,p.Val459Leu,ENST00000404867,;SLIT3,missense_variant,p.Val596Leu,ENST00000332966,NM_001271946.1;SLIT3,non_coding_transcript_exon_variant,,ENST00000519486,;	A	ENST00000332966	Transcript	missense_variant	1859/4895	1786/4593	596/1530	V/L	Gtg/Ttg	rs562240210,COSM1065655,COSM3410126	1		-1	SLIT3	HGNC	HGNC:11087	protein_coding	YES	CCDS64311.1	ENSP00000332164	O75094		UPI0001E8F75D	NM_001271946.1	tolerated(0.29)		17/36		PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs562240210	.												A	3	1	83	168753907	168753907	C	A	1	0	0	0	0	1	0	0	0	15032	536	19	1		1	SLIT3	5	168753907	Missense_Mutation	SNP	C	C3N-01823_TP	691683	168753907	12784352	141	27484											
DOCK2	0	.	GRCh38	chr5	169689272	169689272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaactacctagtgcgatGgggcagccggggcttcccta	8	8	14	11	2	0	1	0	1	0	1	1	3	1	1	3	4	4	2	3	4	4	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.782G>T	p.Trp261Leu	p.W261L	ENST00000256935	9/52	300	226	74	144	144	0	strelka-varscan-mutect	DOCK2,missense_variant,p.Trp261Leu,ENST00000256935,NM_004946.2;DOCK2,missense_variant,p.Trp261Leu,ENST00000524185,;	T	ENST00000256935	Transcript	missense_variant	862/6097	782/5493	261/1830	W/L	tGg/tTg		1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2	deleterious(0)		9/52		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Pfam_domain:PF16172																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	169689272	169689272	G	T	1	0	0	0	0	1	0	0	0	4502	1357	47	2		2	DOCK2	5	169689272	Missense_Mutation	SNP	G	C3N-01823_TP	935365	169689272	11848987	142	27485											
DOCK2	0	.	GRCh38	chr5	170067587	170067587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctgatgatgataaaccaGtaccagagtgatgagaccct	14	9	9	9	0	0	6	0	5	0	2	1	7	1	6	4	0	2	1	4	0	3	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.4545G>T	p.Gln1515His	p.Q1515H	ENST00000256935	45/52	349	304	45	166	165	1	strelka-varscan-mutect	DOCK2,missense_variant,p.Gln1515His,ENST00000256935,NM_004946.2;DOCK2,missense_variant,p.Gln1007His,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	T	ENST00000256935	Transcript	missense_variant	4625/6097	4545/5493	1515/1830	Q/H	caG/caT		1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2	deleterious(0)		45/52		PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Pfam_domain:PF06920																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	170067587	170067587	G	T	1	0	0	0	0	1	0	0	0	4502	1020	36	2		2	DOCK2	5	170067587	Missense_Mutation	SNP	G	C3N-01823_TP	378315	170067587	11470672	143	27486											
DOCK2	0	.	GRCh38	chr5	170067675	170067675	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcatgggaggcttcgccAagtatgagaaggtgaggatt	10	10	15	6	1	1	2	1	2	0	1	2	5	1	4	1	4	0	2	1	4	3	3	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.4633A>G	p.Lys1545Glu	p.K1545E	ENST00000256935	45/52	143	121	22	77	77	0	strelka-varscan-mutect	DOCK2,missense_variant,p.Lys1545Glu,ENST00000256935,NM_004946.2;DOCK2,missense_variant,p.Lys1037Glu,ENST00000520908,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;	G	ENST00000256935	Transcript	missense_variant	4713/6097	4633/5493	1545/1830	K/E	Aag/Gag		1		1	DOCK2	HGNC	HGNC:2988	protein_coding	YES	CCDS4371.1	ENSP00000256935	Q92608		UPI00001A38CC	NM_004946.2	tolerated(0.07)		45/52		PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF73,Pfam_domain:PF06920																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	83	170067675	170067675	A	G	1	0	0	0	0	1	0	0	0	4502	131	5	5		5	DOCK2	5	170067675	Missense_Mutation	SNP	A	C3N-01823_TP	88	170067675	11470584	144	27487											
GABRP	0	.	GRCh38	chr5	170789245	170789245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttctcaggcccaattttgGtggtaggtcatcctctgtgt	6	16	10	9	0	3	0	2	0	2	0	5	0	4	0	2	4	0	1	2	4	2	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.170G>A	p.Gly57Asp	p.G57D	ENST00000518525	4/11	158	127	31	85	85	0	strelka-varscan-mutect	GABRP,missense_variant,p.Gly57Asp,ENST00000518525,;GABRP,missense_variant,p.Gly57Asp,ENST00000265294,NM_014211.2;GABRP,missense_variant,p.Gly57Asp,ENST00000519385,NM_001291985.1;GABRP,missense_variant,p.Gly57Asp,ENST00000519598,;GABRP,missense_variant,p.Gly57Asp,ENST00000521481,;GABRP,missense_variant,p.Gly57Asp,ENST00000522868,;GABRP,missense_variant,p.Gly57Asp,ENST00000519196,;GABRP,missense_variant,p.Gly57Asp,ENST00000521009,;GABRP,downstream_gene_variant,,ENST00000518122,;CTC-455F18.1,upstream_gene_variant,,ENST00000518172,;GABRP,splice_region_variant,,ENST00000519137,;	A	ENST00000518525	Transcript	missense_variant,splice_region_variant	634/3576	170/1323	57/440	G/D	gGt/gAt		1		1	GABRP	HGNC	HGNC:4089	protein_coding	YES	CCDS4375.1	ENSP00000430100	O00591		UPI000003C534		tolerated(0.29)		4/11		hmmpanther:PTHR18945:SF33,hmmpanther:PTHR18945,Pfam_domain:PF02931,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	83	170789245	170789245	G	A	1	0	0	0	0	1	0	0	0	6045	1275	44	3		3	GABRP	5	170789245	Missense_Mutation	SNP	G	C3N-01823_TP	721570	170789245	10749014	145	27488											
ZNF354B	0	.	GRCh38	chr5	178883247	178883247	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcaaagaactcatacAggagagaaaccctatatatg	19	7	6	9	0	2	2	2	0	0	2	2	4	2	3	1	1	4	0	1	1	8	4	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.795A>T	p.=	p.T265T	ENST00000322434	5/5	244	176	68	144	144	0	strelka-varscan-mutect	ZNF354B,synonymous_variant,p.=,ENST00000322434,NM_058230.2;ZNF354B,downstream_gene_variant,,ENST00000520377,;RNU1-39P,upstream_gene_variant,,ENST00000383897,;ZNF354B,upstream_gene_variant,,ENST00000522714,;ZNF354B,upstream_gene_variant,,ENST00000522624,;	T	ENST00000322434	Transcript	synonymous_variant	1021/2802	795/1839	265/612	T	acA/acT		1		1	ZNF354B	HGNC	HGNC:17197	protein_coding	YES	CCDS4439.1	ENSP00000327143	Q96LW1		UPI0000071A24	NM_058230.2			5/5		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF87,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	178883247	178883247	A	T	1	0	0	0	0	0	0	0	1	18437	175	7	4		4	ZNF354B	5	178883247	Silent	SNP	A	C3N-01823_TP	8094002	178883247	2655012	146	27489											
SERPINB1	0	.	GRCh38	chr6	2833727	2833727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcaacatgcagaaagttgCgatgcctgctgtggcagctg	10	9	12	10	1	1	1	1	0	0	1	1	2	1	1	1	1	6	5	1	1	2	1	rs761685123		C3N-01823_TP	C3N-01823_NB	C	C																c.1021G>A	p.Ala341Thr	p.A341T	ENST00000380739	7/7	386	328	58	232	232	0	strelka-varscan-mutect	SERPINB1,missense_variant,p.Ala341Thr,ENST00000380739,NM_030666.3;SERPINB1,intron_variant,,ENST00000468511,;SERPINB1,downstream_gene_variant,,ENST00000476896,;SERPINB1,downstream_gene_variant,,ENST00000490094,;SERPINB1,downstream_gene_variant,,ENST00000460260,;	T	ENST00000380739	Transcript	missense_variant	1224/2619	1021/1140	341/379	A/T	Gca/Aca	rs761685123,COSM451108	1		-1	SERPINB1	HGNC	HGNC:3311	protein_coding	YES	CCDS4477.1	ENSP00000370115	P30740	V9HWH1	UPI000012D514	NM_030666.3	tolerated(0.59)		7/7		Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF180,Low_complexity_(Seg):seg,SMART_domains:SM00093,Superfamily_domains:SSF56574											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs761685123	.												T	3	4	83	2833727	2833727	C	T	1	0	0	0	0	1	0	0	0	14372	768	27	1		1	SERPINB1	6	2833727	Missense_Mutation	SNP	C	C3N-01823_TP		2833727	167972252	147	27490											
F13A1	0	.	GRCh38	chr6	6197287	6197287	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatccaacaggaaggtcAggccttgtcatccatgcttc	11	9	8	13	0	2	0	2	0	0	0	5	1	4	1	4	3	2	1	4	3	3	2	rs375255557		C3N-01823_TP	C3N-01823_NB	A	A																c.1152T>A	p.=	p.P384P	ENST00000264870	9/15	716	595	121	389	389	0	strelka-varscan-mutect	F13A1,synonymous_variant,p.=,ENST00000264870,NM_000129.3;	T	ENST00000264870	Transcript	synonymous_variant	1418/3999	1152/2199	384/732	P	ccT/ccA	rs375255557	1		-1	F13A1	HGNC	HGNC:3531	protein_coding	YES	CCDS4496.1	ENSP00000264870	P00488		UPI000013D585	NM_000129.3			9/15		Gene3D:1ex0A02,Pfam_domain:PF01841,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF42,SMART_domains:SM00460,Superfamily_domains:SSF54001																	LOW	1	SNV	1			1										PASS		rs375255557	.												T	2	4	83	6197287	6197287	A	T	1	0	0	0	0	0	0	0	1	5208	175	7	4		4	F13A1	6	6197287	Silent	SNP	A	C3N-01823_TP	3363560	6197287	164608692	148	27491											
RREB1	0	.	GRCh38	chr6	7226628	7226628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttaggattcacggacttctCctgtaggaagtttcctcgca	8	13	9	11	2	2	0	1	0	1	0	5	3	3	3	2	3	0	3	2	3	3	5	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.869C>T	p.Ser290Phe	p.S290F	ENST00000379938	9/13	174	145	29	110	109	1	strelka-varscan-mutect	RREB1,missense_variant,p.Ser290Phe,ENST00000379938,NM_001003699.3;RREB1,missense_variant,p.Ser290Phe,ENST00000349384,NM_001003698.3;RREB1,missense_variant,p.Ser290Phe,ENST00000379933,NM_001168344.1;RREB1,missense_variant,p.Ser290Phe,ENST00000334984,NM_001003700.1;RREB1,missense_variant,p.Ser290Phe,ENST00000483150,;RREB1,upstream_gene_variant,,ENST00000611109,;	T	ENST00000379938	Transcript	missense_variant	1406/8778	869/5229	290/1742	S/F	tCc/tTc		1		1	RREB1	HGNC	HGNC:10449	protein_coding	YES	CCDS34335.1	ENSP00000369270	Q92766		UPI000020E496	NM_001003699.3	deleterious(0)		9/13		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF42																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	7226628	7226628	C	T	1	0	0	0	0	1	0	0	0	13933	855	30	3		3	RREB1	6	7226628	Missense_Mutation	SNP	C	C3N-01823_TP	1029341	7226628	163579351	149	27492											
JARID2	0	.	GRCh38	chr6	15496861	15496861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaaggccgagaagggcGgcggcaaggccgggtgggcg	7	1	23	10	6	0	1	0	0	0	1	0	2	0	1	2	8	0	2	2	8	3	0	rs200762827		C3N-01823_TP	C3N-01823_NB	G	G																c.1636G>T	p.Gly546Cys	p.G546C	ENST00000341776	7/18	111	91	20	61	61	0	strelka-varscan-mutect	JARID2,missense_variant,p.Gly546Cys,ENST00000341776,NM_004973.3;JARID2,missense_variant,p.Gly374Cys,ENST00000397311,NM_001267040.1;JARID2,upstream_gene_variant,,ENST00000474854,;	T	ENST00000341776	Transcript	missense_variant	1880/5755	1636/3741	546/1246	G/C	Ggc/Tgc	rs200762827	1		1	JARID2	HGNC	HGNC:6196	protein_coding	YES	CCDS4533.1	ENSP00000341280	Q92833		UPI0000161C67	NM_004973.3	tolerated(0.05)		7/18		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF44,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs200762827	.												T	3	4	83	15496861	15496861	G	T	1	0	0	0	0	1	0	0	0	7859	1116	39	1		1	JARID2	6	15496861	Missense_Mutation	SNP	G	C3N-01823_TP	8270233	15496861	155309118	150	27493											
HIST1H3F	0	.	GRCh38	chr6	26250395	26250395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgatctcacgtaccaGacgctggaatggtagcttgc	8	9	12	12	4	1	1	1	0	1	1	2	3	1	2	1	2	4	4	1	2	3	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.211C>A	p.Leu71Met	p.L71M	ENST00000618052	1/1	671	514	157	360	358	2	strelka-varscan-mutect	HIST1H3F,missense_variant,p.Leu71Met,ENST00000618052,NM_021018.2;HIST1H2BH,upstream_gene_variant,,ENST00000619466,NM_003524.2;HIST1H4G,upstream_gene_variant,,ENST00000611444,NM_003547.2;	T	ENST00000618052	Transcript	missense_variant	211/411	211/411	71/136	L/M	Ctg/Atg		1		-1	HIST1H3F	HGNC	HGNC:4773	protein_coding	YES	CCDS4600.1	ENSP00000484095	P68431		UPI00000003C7	NM_021018.2	deleterious_low_confidence(0.01)		1/1		Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00622,PROSITE_patterns:PS00959,hmmpanther:PTHR11426,SMART_domains:SM00428,Superfamily_domains:SSF47113																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	83	26250395	26250395	G	T	1	0	0	0	0	1	0	0	0	7048	933	33	2		2	HIST1H3F	6	26250395	Missense_Mutation	SNP	G	C3N-01823_TP	10753534	26250395	144555584	151	27494											
OR5V1	0	.	GRCh38	chr6	29355782	29355782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaattgattgcatagaacCttgctcagaataactgaata	15	12	7	7	0	1	4	1	2	0	2	1	4	1	4	1	0	4	3	1	0	7	7	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.414G>T	p.Lys138Asn	p.K138N	ENST00000377154	4/4	347	251	96	187	185	2	strelka-varscan-mutect	OR5V1,missense_variant,p.Lys138Asn,ENST00000377154,;OR5V1,missense_variant,p.Lys138Asn,ENST00000543825,NM_030876.5;	A	ENST00000377154	Transcript	missense_variant	714/1266	414/966	138/321	K/N	aaG/aaT		1		-1	OR5V1	HGNC	HGNC:13972	protein_coding	YES	CCDS4657.1	ENSP00000366359	Q9UGF6	A0A126GV99	UPI000004186B		tolerated(0.17)		4/4		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF295,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	83	29355782	29355782	C	A	1	0	0	0	0	1	0	0	0	11252	680	24	2		2	OR5V1	6	29355782	Missense_Mutation	SNP	C	C3N-01823_TP	3105387	29355782	141450197	152	27495											
TNF	0	.	GRCh38	chr6	31577131	31577131	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaaaccctcaagctgAggggcagctccagtggctga	10	6	12	13	0	1	2	1	2	0	0	3	2	3	2	3	3	4	5	3	3	2	0	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.296A>T	p.Glu99Val	p.E99V	ENST00000449264	4/4	160	133	27	77	77	0	strelka-varscan-mutect	TNF,missense_variant,p.Glu99Val,ENST00000449264,NM_000594.3;LTA,downstream_gene_variant,,ENST00000454783,NM_001159740.2;LTA,downstream_gene_variant,,ENST00000418386,NM_000595.3;LTB,downstream_gene_variant,,ENST00000429299,NM_002341.1;LTB,downstream_gene_variant,,ENST00000446745,NM_009588.1;LTB,downstream_gene_variant,,ENST00000483972,;LTA,downstream_gene_variant,,ENST00000471842,;LTB,downstream_gene_variant,,ENST00000482429,;LTA,downstream_gene_variant,,ENST00000489638,;	T	ENST00000449264	Transcript	missense_variant	471/1676	296/702	99/233	E/V	gAg/gTg		1		1	TNF	HGNC	HGNC:11892	protein_coding	YES	CCDS4702.1	ENSP00000398698	P01375	Q5STB3	UPI000000D745	NM_000594.3	tolerated(0.08)		4/4		PROSITE_profiles:PS50049,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF23,Gene3D:2.60.120.40,SMART_domains:SM00207,Superfamily_domains:SSF49842,Prints_domain:PR01234																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	31577131	31577131	A	T	1	0	0	0	0	1	0	0	0	16745	304	11	4		4	TNF	6	31577131	Missense_Mutation	SNP	A	C3N-01823_TP	2221349	31577131	139228848	153	27496											
C4A	0	.	GRCh38	chr6	31996553	31996553	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcgcctgtggacctgcTcggtgttgcccacaacaacc	8	7	11	15	2	0	0	0	0	0	0	1	1	0	1	4	3	4	2	4	3	3	1	rs28357076		C3N-01823_TP	C3N-01823_NB	T	T																c.3629T>G	p.Leu1210Arg	p.L1210R	ENST00000428956	28/41	587	557	30	241	239	2	varscan-mutect	C4A,missense_variant,p.Leu1210Arg,ENST00000428956,NM_007293.2;C4A,missense_variant,p.Leu1210Arg,ENST00000498271,NM_001252204.1;C4A-AS1,downstream_gene_variant,,ENST00000458633,;C4A,non_coding_transcript_exon_variant,,ENST00000480795,;C4A,upstream_gene_variant,,ENST00000463034,;C4A,upstream_gene_variant,,ENST00000465724,;C4A,upstream_gene_variant,,ENST00000491876,;C4A,downstream_gene_variant,,ENST00000460841,;C4A,upstream_gene_variant,,ENST00000469975,;C4A,upstream_gene_variant,,ENST00000460060,;C4A,upstream_gene_variant,,ENST00000471624,;C4A,downstream_gene_variant,,ENST00000496659,;C4A,upstream_gene_variant,,ENST00000470365,;C4A,upstream_gene_variant,,ENST00000490663,;C4A,downstream_gene_variant,,ENST00000483974,;C4A,upstream_gene_variant,,ENST00000477424,;	G	ENST00000428956	Transcript	missense_variant	3713/5460	3629/5235	1210/1744	L/R	cTc/cGc	rs28357076	1		1	C4A	HGNC	HGNC:1323	protein_coding	YES	CCDS47404.1	ENSP00000396688	P0C0L4		UPI00001AF648	NM_007293.2	tolerated(0.88)		28/41		hmmpanther:PTHR11412:SF96,hmmpanther:PTHR11412,Gene3D:1.50.10.20,Pfam_domain:PF07678,Superfamily_domains:SSF48239																	MODERATE	1	SNV	1			1										PASS		rs28357076	.												G	3	3	83	31996553	31996553	T	G	1	0	0	0	0	1	0	0	0	2074	1551	54	5		5	C4A	6	31996553	Missense_Mutation	SNP	T	C3N-01823_TP	419422	31996553	138809426	154	27497											
HLA-DQA2	0	.	GRCh38	chr6	32741473	32741473	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacaaagctctgctgctgggGgccctcgccctgactgccgt	6	8	12	15	2	1	1	0	1	1	0	2	1	1	1	3	2	5	3	3	2	2	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.30G>T	p.=	p.G10G	ENST00000374940	1/5	388	280	108	220	219	1	strelka-varscan-mutect	HLA-DQA2,synonymous_variant,p.=,ENST00000374940,NM_020056.4;	T	ENST00000374940	Transcript	synonymous_variant	132/1524	30/768	10/255	G	ggG/ggT		1		1	HLA-DQA2	HGNC	HGNC:4943	protein_coding	YES	CCDS4753.1	ENSP00000364076	P01906	Q76NI6	UPI0000001086	NM_020056.4			1/5		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19944:SF54,hmmpanther:PTHR19944																	LOW	1	SNV				1										PASS		.	.												T	2	4	83	32741473	32741473	G	T	1	0	0	0	0	0	0	0	1	7094	1219	43	2		2	HLA-DQA2	6	32741473	Silent	SNP	G	C3N-01823_TP	744920	32741473	138064506	155	27498											
TULP1	0	.	GRCh38	chr6	35512848	35512848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcggagggtttcatccCgcagaggcatggtgcctttg	5	11	13	12	2	2	1	1	0	1	1	4	2	3	2	3	4	1	3	3	4	0	2	rs373351673		C3N-01823_TP	C3N-01823_NB	C	C																c.11G>T	p.Arg4Leu	p.R4L	ENST00000229771	1/15	665	615	50	288	288	0	strelka-varscan-mutect	TULP1,missense_variant,p.Arg4Leu,ENST00000229771,NM_003322.4;TULP1,missense_variant,p.Arg4Leu,ENST00000614066,;TULP1,missense_variant,p.Arg4Leu,ENST00000322263,NM_001289395.1;TULP1,missense_variant,p.Arg4Leu,ENST00000428978,;TULP1,upstream_gene_variant,,ENST00000373892,;TULP1,upstream_gene_variant,,ENST00000448446,;	A	ENST00000229771	Transcript	missense_variant	91/2162	11/1629	4/542	R/L	cGg/cTg	rs373351673,COSM1078383,COSM3674691	1		-1	TULP1	HGNC	HGNC:12423	protein_coding	YES	CCDS4807.1	ENSP00000229771	O00294		UPI000045742A	NM_003322.4	tolerated_low_confidence(0.11)		1/15													0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs373351673	.												A	3	1	83	35512848	35512848	C	A	1	0	0	0	0	1	0	0	0	17283	652	23	1		1	TULP1	6	35512848	Missense_Mutation	SNP	C	C3N-01823_TP	2771375	35512848	135293131	156	27499											
TREML2	0	.	GRCh38	chr6	41192458	41192458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacttccacatagggctctGgtcttccaggtgggtcacgt	7	11	12	11	1	3	1	1	0	2	1	5	1	5	1	2	4	0	1	2	4	1	3	rs751699387		C3N-01823_TP	C3N-01823_NB	G	G																c.935C>A	p.Pro312Gln	p.P312Q	ENST00000483722	5/5	350	303	47	223	223	0	strelka-varscan-mutect	TREML2,missense_variant,p.Pro312Gln,ENST00000483722,NM_024807.3;	T	ENST00000483722	Transcript	missense_variant	1121/3302	935/966	312/321	P/Q	cCa/cAa	rs751699387	1		-1	TREML2	HGNC	HGNC:21092	protein_coding	YES	CCDS4853.2	ENSP00000418767	Q5T2D2		UPI0000074452	NM_024807.3	tolerated(0.07)		5/5		hmmpanther:PTHR16423:SF3,hmmpanther:PTHR16423																	MODERATE	1	SNV	1			1										PASS		rs751699387	.												T	3	4	83	41192458	41192458	G	T	1	0	0	0	0	1	0	0	0	16962	1348	47	2		2	TREML2	6	41192458	Missense_Mutation	SNP	G	C3N-01823_TP	5679610	41192458	129613521	157	27500											
CUL9	0	.	GRCh38	chr6	43186144	43186144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacctcatctctgagcttGtgcggagcatgggctgggcc	6	9	14	12	1	2	1	1	1	1	0	3	2	2	2	2	3	4	4	2	3	1	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.940G>T	p.Val314Leu	p.V314L	ENST00000252050	4/41	239	195	44	138	138	0	strelka-varscan-mutect	CUL9,missense_variant,p.Val314Leu,ENST00000252050,NM_015089.3;CUL9,missense_variant,p.Val314Leu,ENST00000372647,;SRF,downstream_gene_variant,,ENST00000265354,NM_003131.3;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,non_coding_transcript_exon_variant,,ENST00000451399,;CUL9,upstream_gene_variant,,ENST00000510282,;	T	ENST00000252050	Transcript	missense_variant	1024/7780	940/7554	314/2517	V/L	Gtg/Ttg		1		1	CUL9	HGNC	HGNC:15982	protein_coding	YES	CCDS4890.1	ENSP00000252050	Q8IWT3		UPI000006F22F	NM_015089.3	deleterious(0.04)		4/41		hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	83	43186144	43186144	G	T	1	0	0	0	0	1	0	0	0	3871	1377	48	2		2	CUL9	6	43186144	Missense_Mutation	SNP	G	C3N-01823_TP	1993686	43186144	127619835	158	27501											
PTCHD4	0	.	GRCh38	chr6	48068414	48068414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggctgcgctcgatcttgGccaggctgtggctgggagcg	4	8	17	12	3	1	0	0	0	1	0	2	2	1	1	2	5	2	4	2	5	0	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.242C>A	p.Ala81Asp	p.A81D	ENST00000339488	1/3	348	298	50	202	202	0	strelka-varscan-mutect	PTCHD4,missense_variant,p.Ala81Asp,ENST00000398738,NM_207499.2;PTCHD4,missense_variant,p.Ala81Asp,ENST00000339488,NM_001013732.3;	T	ENST00000339488	Transcript	missense_variant	276/2850	242/2541	81/846	A/D	gCc/gAc		1		-1	PTCHD4	HGNC	HGNC:21345	protein_coding	YES	CCDS34473.2	ENSP00000341914	Q6ZW05		UPI000179A8D3	NM_001013732.3	deleterious(0)		1/3		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	83	48068414	48068414	G	T	1	0	0	0	0	1	0	0	0	12887	1203	42	2		2	PTCHD4	6	48068414	Missense_Mutation	SNP	G	C3N-01823_TP	4882270	48068414	122737565	159	27502											
PTCHD4	0	.	GRCh38	chr6	48068439	48068439	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggctgggagcgaccaGgcgctccaggtcgccctcgg	4	6	17	14	4	0	0	0	0	0	0	3	2	1	1	3	5	1	3	3	5	0	0	rs546524803		C3N-01823_TP	C3N-01823_NB	G	G																c.217C>T	p.=	p.L73L	ENST00000339488	1/3	303	266	37	185	185	0	strelka-varscan-mutect	PTCHD4,synonymous_variant,p.=,ENST00000398738,NM_207499.2;PTCHD4,synonymous_variant,p.=,ENST00000339488,NM_001013732.3;	A	ENST00000339488	Transcript	synonymous_variant	251/2850	217/2541	73/846	L	Ctg/Ttg	rs546524803	1		-1	PTCHD4	HGNC	HGNC:21345	protein_coding	YES	CCDS34473.2	ENSP00000341914	Q6ZW05		UPI000179A8D3	NM_001013732.3			1/3		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15																	LOW	1	SNV	2			1										PASS		rs546524803	.												A	2	1	83	48068439	48068439	G	A	1	0	0	0	0	0	0	0	1	12887	991	35	3		3	PTCHD4	6	48068439	Silent	SNP	G	C3N-01823_TP	25	48068439	122737540	160	27503											
C6orf141	0	.	GRCh38	chr6	49551007	49551007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacggcagatcgggccctcgGacctcgggccggggaggaat	8	4	17	12	5	0	1	0	0	0	1	3	4	0	4	3	7	1	1	3	7	2	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.215G>A	p.Gly72Glu	p.G72E	ENST00000529246	1/1	320	293	27	195	195	0	strelka-varscan-mutect	C6orf141,missense_variant,p.Gly72Glu,ENST00000529246,NM_001145652.1;C6orf141,upstream_gene_variant,,ENST00000424426,;C6orf141,missense_variant,p.Gly72Glu,ENST00000371194,;C6orf141,missense_variant,p.Gly72Glu,ENST00000414696,;C6orf141,upstream_gene_variant,,ENST00000526429,;C6orf141,upstream_gene_variant,,ENST00000530382,;C6orf141,upstream_gene_variant,,ENST00000415078,;	A	ENST00000529246	Transcript	missense_variant	362/1450	215/735	72/244	G/E	gGa/gAa		1		1	C6orf141	HGNC	HGNC:21351	protein_coding	YES	CCDS55018.1	ENSP00000434602	Q5SZD1		UPI000013E9DC	NM_001145652.1	deleterious(0.03)		1/1		hmmpanther:PTHR36880,hmmpanther:PTHR36880:SF1																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	83	49551007	49551007	G	A	1	0	0	0	0	1	0	0	0	2119	1174	41	3		3	C6orf141	6	49551007	Missense_Mutation	SNP	G	C3N-01823_TP	1482568	49551007	121254972	161	27504											
PKHD1	0	.	GRCh38	chr6	51903644	51903644	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagatgccagatggtgtcaAcatttcaggattggagagtc	12	11	12	6	0	2	3	2	0	0	3	3	5	2	4	1	3	2	0	1	3	2	3			C3N-01823_TP	C3N-01823_NB	A	A																c.6949T>C	p.=	p.L2317L	ENST00000371117	43/67	576	473	103	386	386	0	strelka-varscan-mutect	PKHD1,synonymous_variant,p.=,ENST00000371117,NM_138694.3;PKHD1,synonymous_variant,p.=,ENST00000340994,NM_170724.2;	G	ENST00000371117	Transcript	synonymous_variant	7225/16282	6949/12225	2317/4074	L	Ttg/Ctg	COSM1262280,COSM1262281	1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3			43/67		Gene3D:2.160.20.10,Pfam_domain:PF13229,SMART_domains:SM00710,Superfamily_domains:SSF51126											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												G	2	3	83	51903644	51903644	A	G	1	0	0	0	0	0	0	0	1	12067	40	2	5		5	PKHD1	6	51903644	Silent	SNP	A	C3N-01823_TP	2352637	51903644	118902335	162	27505											
BMP5	0	.	GRCh38	chr6	55874554	55874554	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctggtctcttctgccaaGgatgcccttactgagtactc	6	13	8	14	0	3	1	0	1	3	0	5	2	3	2	3	2	4	1	3	2	3	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.312C>A	p.=	p.S104S	ENST00000370830	1/7	425	339	86	259	259	0	strelka-varscan-mutect	BMP5,synonymous_variant,p.=,ENST00000370830,NM_021073.2;	T	ENST00000370830	Transcript	synonymous_variant	1011/3952	312/1365	104/454	S	tcC/tcA		1		-1	BMP5	HGNC	HGNC:1072	protein_coding	YES	CCDS4958.1	ENSP00000359866	P22003	M9VUD0	UPI0000126A2C	NM_021073.2			1/7		Pfam_domain:PF00688																	LOW	1	SNV	1			1										PASS		rs1428483117	.												T	2	4	83	55874554	55874554	G	T	1	0	0	0	0	0	0	0	1	1618	987	35	2		2	BMP5	6	55874554	Silent	SNP	G	C3N-01823_TP	3970910	55874554	114931425	163	27506											
DST	0	.	GRCh38	chr6	56509671	56509671	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atatgtctttatcagtccccCcagatctagcaatcatttcc	10	14	4	13	0	4	1	2	0	2	1	6	1	6	1	4	0	1	1	4	0	4	5	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.12212G>T	p.Gly4071Val	p.G4071V	ENST00000312431	66/95	155	127	28	113	113	0	strelka-varscan-mutect	DST,missense_variant,p.Gly6008Val,ENST00000361203,;DST,missense_variant,p.Gly4031Val,ENST00000421834,NM_183380.3;DST,missense_variant,p.Gly4071Val,ENST00000312431,NM_001144769.2,NM_001144770.1;DST,missense_variant,p.Gly3922Val,ENST00000370788,;DST,missense_variant,p.Gly3705Val,ENST00000244364,NM_015548.4;DST,missense_variant,p.Gly1223Val,ENST00000340834,;	A	ENST00000312431	Transcript	missense_variant	12338/17756	12212/16614	4071/5537	G/V	gGg/gTg		1		-1	DST	HGNC	HGNC:1090	protein_coding	YES	CCDS75474.1	ENSP00000307959		F6QMI7	UPI0001929509	NM_001144769.2,NM_001144770.1	deleterious(0.03)		66/95		hmmpanther:PTHR11915:SF38,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	83	56509671	56509671	C	A	1	0	0	0	0	1	0	0	0	4604	623	22	2		2	DST	6	56509671	Missense_Mutation	SNP	C	C3N-01823_TP	635117	56509671	114296308	164	27507											
MTO1	0	.	GRCh38	chr6	73500578	73500578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtattgatttttagatcgGggctgctagtcgcatacccg	7	14	12	8	3	0	2	0	1	0	1	2	2	0	2	1	3	2	4	1	3	4	7	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2042G>T	p.Gly681Val	p.G681V	ENST00000415954	13/13	140	131	9	83	83	0	strelka-varscan-mutect	MTO1,missense_variant,p.Gly641Val,ENST00000498286,NM_012123.3;MTO1,missense_variant,p.Gly666Val,ENST00000370300,NM_133645.2;MTO1,missense_variant,p.Gly681Val,ENST00000415954,NM_001123226.1;MTO1,missense_variant,p.Gly592Val,ENST00000370305,;MTO1,synonymous_variant,p.=,ENST00000521156,;MTO1,3_prime_UTR_variant,,ENST00000415228,;MTO1,3_prime_UTR_variant,,ENST00000523763,;MTO1,non_coding_transcript_exon_variant,,ENST00000370308,;MTO1,non_coding_transcript_exon_variant,,ENST00000462039,;	T	ENST00000415954	Transcript	missense_variant	2319/2837	2042/2199	681/732	G/V	gGg/gTg		1		1	MTO1	HGNC	HGNC:19261	protein_coding	YES	CCDS47452.1	ENSP00000402038	Q9Y2Z2		UPI0001639C21	NM_001123226.1	deleterious(0)		13/13		hmmpanther:PTHR11806:SF0,hmmpanther:PTHR11806,Pfam_domain:PF13932,SMART_domains:SM01228																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	73500578	73500578	G	T	1	0	0	0	0	1	0	0	0	9940	1246	43	2		2	MTO1	6	73500578	Missense_Mutation	SNP	G	C3N-01823_TP	16990907	73500578	97305401	165	27508											
TMEM30A	0	.	GRCh38	chr6	75256271	75256271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaagatcatccgttttcgtCcatcaaaataatgtacaggg	13	12	7	9	2	3	1	3	0	0	1	6	1	5	1	2	1	1	2	2	1	5	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.917G>T	p.Gly306Val	p.G306V	ENST00000230461	7/7	132	109	23	79	79	0	strelka-varscan-mutect	TMEM30A,missense_variant,p.Gly306Val,ENST00000230461,NM_018247.3;TMEM30A,missense_variant,p.Gly187Val,ENST00000370050,;TMEM30A,missense_variant,p.Gly270Val,ENST00000475111,NM_001143958.1;TMEM30A,downstream_gene_variant,,ENST00000518161,;	A	ENST00000230461	Transcript	missense_variant	1247/4594	917/1086	306/361	G/V	gGa/gTa		1		-1	TMEM30A	HGNC	HGNC:16667	protein_coding	YES	CCDS4983.1	ENSP00000230461	Q9NV96		UPI0000071AE1	NM_018247.3	deleterious(0)		7/7		hmmpanther:PTHR10926:SF17,hmmpanther:PTHR10926,Pfam_domain:PF03381,PIRSF_domain:PIRSF015840																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	75256271	75256271	C	A	1	0	0	0	0	1	0	0	0	16629	855	30	2		2	TMEM30A	6	75256271	Missense_Mutation	SNP	C	C3N-01823_TP	1755693	75256271	95549708	166	27509											
ASCC3	0	.	GRCh38	chr6	100867962	100867962	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttggtgacatttgaaaaGgaacgcaaggctcctgtgag	11	10	13	7	1	0	3	0	3	0	0	1	4	1	4	1	3	2	3	1	3	4	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.36C>A	p.=	p.S12S	ENST00000369162	2/42	364	343	21	337	337	0	strelka-varscan-mutect	ASCC3,synonymous_variant,p.=,ENST00000369162,NM_006828.3;ASCC3,synonymous_variant,p.=,ENST00000369143,NM_022091.4;ASCC3,synonymous_variant,p.=,ENST00000522650,NM_001284271.1;ASCC3,synonymous_variant,p.=,ENST00000324723,;ASCC3,synonymous_variant,p.=,ENST00000324696,;ASCC3,non_coding_transcript_exon_variant,,ENST00000468245,;	T	ENST00000369162	Transcript	synonymous_variant	381/8146	36/6609	12/2202	S	tcC/tcA		1		-1	ASCC3	HGNC	HGNC:18697	protein_coding	YES	CCDS5046.1	ENSP00000358159	Q8N3C0		UPI000014145A	NM_006828.3			2/42		PIRSF_domain:PIRSF039073																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	83	100867962	100867962	G	T	1	0	0	0	0	0	0	0	1	1175	987	35	2		2	ASCC3	6	100867962	Silent	SNP	G	C3N-01823_TP	25611691	100867962	69938017	167	27510											
WASF1	0	.	GRCh38	chr6	110100642	110100642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgttcatgcttagcttcCtgttcacgctgctcttctac	5	16	7	13	2	4	0	2	0	2	0	5	0	5	0	1	0	5	6	1	0	2	6	rs764574206		C3N-01823_TP	C3N-01823_NB	C	C																c.1560G>T	p.Gln520His	p.Q520H	ENST00000392589	11/11	183	155	28	137	137	0	strelka-varscan-mutect	WASF1,missense_variant,p.Gln520His,ENST00000392589,NM_003931.2;WASF1,missense_variant,p.Gln520His,ENST00000392588,NM_001024934.1;WASF1,missense_variant,p.Gln520His,ENST00000359451,NM_001024935.1;WASF1,missense_variant,p.Gln520His,ENST00000392586,;WASF1,missense_variant,p.Gln520His,ENST00000392587,NM_001024936.1;	A	ENST00000392589	Transcript	missense_variant	2397/3220	1560/1680	520/559	Q/H	caG/caT	rs764574206	1		-1	WASF1	HGNC	HGNC:12732	protein_coding	YES	CCDS5080.1	ENSP00000376368	Q92558		UPI000003AC31	NM_003931.2	deleterious(0)		11/11		Pfam_domain:PF02205,hmmpanther:PTHR12902,hmmpanther:PTHR12902:SF8																	MODERATE	1	SNV	5			1										PASS		rs764574206	.												A	3	1	83	110100642	110100642	C	A	1	0	0	0	0	1	0	0	0	17812	680	24	2		2	WASF1	6	110100642	Missense_Mutation	SNP	C	C3N-01823_TP	9232680	110100642	60705337	168	27511											
REV3L	0	.	GRCh38	chr6	111349293	111349293	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcattgtatatgatccAtactcatctctttcagctgc	9	16	4	12	0	5	1	4	1	1	0	7	1	6	1	1	0	3	2	1	0	3	5	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.7344T>C	p.=	p.Y2448Y	ENST00000358835	21/33	134	125	9	122	122	0	strelka-varscan-mutect	REV3L,synonymous_variant,p.=,ENST00000435970,NM_001286431.1,NM_001286432.1;REV3L,synonymous_variant,p.=,ENST00000358835,NM_002912.4;REV3L,synonymous_variant,p.=,ENST00000368802,;REV3L,synonymous_variant,p.=,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,;REV3L,3_prime_UTR_variant,,ENST00000413831,;REV3L,non_coding_transcript_exon_variant,,ENST00000492520,;FCF1P5,upstream_gene_variant,,ENST00000406490,;	G	ENST00000358835	Transcript	synonymous_variant	7802/10815	7344/9393	2448/3130	Y	taT/taC		1		-1	REV3L	HGNC	HGNC:9968	protein_coding	YES	CCDS5091.2	ENSP00000351697	O60673		UPI0000140023	NM_002912.4			21/33		hmmpanther:PTHR10322:SF5,hmmpanther:PTHR10322,Pfam_domain:PF03104,Gene3D:3.30.420.10,SMART_domains:SM00486,Superfamily_domains:SSF53098																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	83	111349293	111349293	A	G	1	0	0	0	0	0	0	0	1	13411	224	8	5		5	REV3L	6	111349293	Silent	SNP	A	C3N-01823_TP	1248651	111349293	59456686	169	27512											
NUS1	0	.	GRCh38	chr6	117693042	117693042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcctttttcttttttaaagGtattttcaaaagaaataatt	13	20	4	4	0	2	1	1	0	1	1	2	1	2	1	1	1	1	1	1	1	7	10	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.416G>T	p.Gly139Val	p.G139V	ENST00000368494	2/5	98	86	12	130	130	0	strelka-varscan-mutect	NUS1,missense_variant,p.Gly139Val,ENST00000368494,NM_138459.3;	T	ENST00000368494	Transcript	missense_variant,splice_region_variant	585/4676	416/882	139/293	G/V	gGt/gTt		1		1	NUS1	HGNC	HGNC:21042	protein_coding	YES	CCDS5118.1	ENSP00000357480	Q96E22		UPI000006FECA	NM_138459.3	deleterious(0)		2/5		Gene3D:1uehA00,hmmpanther:PTHR21528,hmmpanther:PTHR21528:SF0,Superfamily_domains:SSF64005																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	117693042	117693042	G	T	1	0	0	0	0	1	0	0	0	10843	1275	44	2		2	NUS1	6	117693042	Missense_Mutation	SNP	G	C3N-01823_TP	6343749	117693042	53112937	170	27513											
MCM9	0	.	GRCh38	chr6	118816011	118816011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggttcactctgatgagttgCcatgaaatcaaaccaatcta	14	11	7	9	0	4	3	2	3	2	0	4	3	4	3	2	1	2	2	2	1	4	3	rs561450582		C3N-01823_TP	C3N-01823_NB	C	C																c.2245G>A	p.Ala749Thr	p.A749T	ENST00000316316	13/13	168	152	16	139	139	0	strelka-varscan-mutect	MCM9,missense_variant,p.Ala749Thr,ENST00000316316,;MCM9,missense_variant,p.Ala749Thr,ENST00000619706,NM_017696.2;MCM9,downstream_gene_variant,,ENST00000458674,;	T	ENST00000316316	Transcript	missense_variant	2532/5101	2245/3432	749/1143	A/T	Gca/Aca	rs561450582	1		-1	MCM9	HGNC	HGNC:21484	protein_coding	YES	CCDS56447.1	ENSP00000314505	Q9NXL9		UPI0001AE7302		tolerated_low_confidence(0.19)		13/13																			MODERATE	1	SNV	5			1										PASS		rs561450582	.												T	3	4	83	118816011	118816011	C	T	1	0	0	0	0	1	0	0	0	9326	739	26	3		3	MCM9	6	118816011	Missense_Mutation	SNP	C	C3N-01823_TP	1122969	118816011	51989968	171	27514											
MOXD1	0	.	GRCh38	chr6	132320654	132320654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcagctctatctttcGtgttgtagcgacactcagta	8	15	7	11	2	5	0	3	0	3	0	7	1	5	0	0	0	2	4	0	0	3	5	rs372829567		C3N-01823_TP	C3N-01823_NB	G	G																c.1340C>A	p.Thr447Lys	p.T447K	ENST00000367963	9/12	168	140	28	137	137	0	strelka-varscan-mutect	MOXD1,missense_variant,p.Thr447Lys,ENST00000367963,NM_015529.3;MOXD1,missense_variant,p.Thr379Lys,ENST00000336749,;MOXD1,non_coding_transcript_exon_variant,,ENST00000489128,;	T	ENST00000367963	Transcript	missense_variant	1459/3059	1340/1842	447/613	T/K	aCg/aAg	rs372829567	1		-1	MOXD1	HGNC	HGNC:21063	protein_coding	YES	CCDS5152.2	ENSP00000356940	Q6UVY6		UPI000003F04F	NM_015529.3	deleterious(0)		9/12		hmmpanther:PTHR10157,hmmpanther:PTHR10157:SF28,Pfam_domain:PF03712,Gene3D:2.60.120.230,Superfamily_domains:SSF49742																	MODERATE	1	SNV	1			1										PASS		rs372829567	.												T	3	4	83	132320654	132320654	G	T	1	0	0	0	0	1	0	0	0	9682	1145	40	1		1	MOXD1	6	132320654	Missense_Mutation	SNP	G	C3N-01823_TP	13504643	132320654	38485325	172	27515											
BCLAF1	0	.	GRCh38	chr6	136268293	136268293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgggagaagaaggtgatgCtgaagaggatgaagatcgag	15	6	17	3	1	0	7	0	3	0	4	1	10	0	8	0	3	1	1	0	3	4	0	rs150210620		C3N-01823_TP	C3N-01823_NB	C	C																c.2266G>A	p.Ala756Thr	p.A756T	ENST00000531224	10/13	111	102	9	114	112	2	varscan-mutect	BCLAF1,missense_variant,p.Ala756Thr,ENST00000531224,NM_014739.2;BCLAF1,missense_variant,p.Ala754Thr,ENST00000353331,NM_001077440.1;BCLAF1,missense_variant,p.Ala756Thr,ENST00000527536,;BCLAF1,missense_variant,p.Ala754Thr,ENST00000527759,NM_001301038.1;BCLAF1,missense_variant,p.Ala583Thr,ENST00000530767,NM_001077441.1;BCLAF1,missense_variant,p.Ala754Thr,ENST00000392348,;BCLAF1,intron_variant,,ENST00000534762,;BCLAF1,downstream_gene_variant,,ENST00000628517,;BCLAF1,downstream_gene_variant,,ENST00000529826,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529917,;BCLAF1,missense_variant,p.Ala11Thr,ENST00000533422,;BCLAF1,3_prime_UTR_variant,,ENST00000527613,;BCLAF1,3_prime_UTR_variant,,ENST00000534269,;BCLAF1,3_prime_UTR_variant,,ENST00000532384,;BCLAF1,3_prime_UTR_variant,,ENST00000530429,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529522,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000526228,;BCLAF1,downstream_gene_variant,,ENST00000476194,;BCLAF1,downstream_gene_variant,,ENST00000532076,;BCLAF1,downstream_gene_variant,,ENST00000534792,;BCLAF1,downstream_gene_variant,,ENST00000534321,;	T	ENST00000531224	Transcript	missense_variant	2519/7263	2266/2763	756/920	A/T	Gca/Aca	rs150210620	1		-1	BCLAF1	HGNC	HGNC:16863	protein_coding	YES	CCDS5177.1	ENSP00000435210	Q9NYF8		UPI000006FCE7	NM_014739.2	tolerated(0.08)		10/13		Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs150210620	.												T	3	4	83	136268293	136268293	C	T	1	0	0	0	0	1	0	0	0	1530	797	28	3		3	BCLAF1	6	136268293	Missense_Mutation	SNP	C	C3N-01823_TP	3947639	136268293	34537686	173	27516											
SYNE1	0	.	GRCh38	chr6	152472607	152472607	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcttgtacttaaaacactAtgctggaactgcatctaata	13	13	7	8	0	1	0	0	0	1	0	1	1	1	1	0	1	6	4	0	1	7	6	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.15T>C	p.=	p.H5H	ENST00000495090	1/12	302	278	24	245	245	0	strelka-varscan-mutect	SYNE1,synonymous_variant,p.=,ENST00000495090,;SYNE1,intron_variant,,ENST00000367255,NM_182961.3;SYNE1,intron_variant,,ENST00000423061,NM_033071.3;SYNE1,intron_variant,,ENST00000341594,;SYNE1,intron_variant,,ENST00000367248,;SYNE1,intron_variant,,ENST00000367253,;SYNE1,intron_variant,,ENST00000413186,;SYNE1,intron_variant,,ENST00000537750,;SYNE1,intron_variant,,ENST00000466159,;SYNE1,intron_variant,,ENST00000535896,;SYNE1,upstream_gene_variant,,ENST00000481502,;SYNE1,synonymous_variant,p.=,ENST00000474655,;SYNE1,intron_variant,,ENST00000461872,;SYNE1,upstream_gene_variant,,ENST00000468937,;	G	ENST00000495090	Transcript	synonymous_variant	24/1907	15/1839	5/612	H	caT/caC		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding			ENSP00000438508		F5H422	UPI0001891C3D				1/12																			LOW		SNV	1			1										PASS		.	.												G	2	3	83	152472607	152472607	A	G	1	0	0	0	0	0	0	0	1	15837	446	16	5		5	SYNE1	6	152472607	Silent	SNP	A	C3N-01823_TP	16204314	152472607	18333372	174	27517											
NOX3	0	.	GRCh38	chr6	155436519	155436519	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgtgcagagagagacTgtcttgggtttggcctcgaa	8	12	15	6	1	1	2	0	0	1	2	2	6	1	2	1	2	1	3	1	2	1	3	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.697A>T	p.Ser233Cys	p.S233C	ENST00000159060	7/14	332	300	32	232	232	0	strelka-varscan-mutect	NOX3,missense_variant,p.Ser233Cys,ENST00000159060,NM_015718.2;	A	ENST00000159060	Transcript	missense_variant	800/2042	697/1707	233/568	S/C	Agt/Tgt		1		-1	NOX3	HGNC	HGNC:7890	protein_coding	YES	CCDS5250.1	ENSP00000159060	Q9HBY0		UPI000006EC80	NM_015718.2	deleterious(0)		7/14																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	155436519	155436519	T	A	1	0	0	0	0	1	0	0	0	10603	1580	55	4		4	NOX3	6	155436519	Missense_Mutation	SNP	T	C3N-01823_TP	2963912	155436519	15369460	175	27518											
ZDHHC14	0	.	GRCh38	chr6	157542631	157542631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctgccatccctgcagtcGctggcatcctgttcttcttt	3	14	7	17	1	2	0	0	0	2	0	5	0	4	0	5	1	2	4	5	1	0	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.292G>C	p.Ala98Pro	p.A98P	ENST00000359775	2/9	206	195	11	173	173	0	strelka-mutect	ZDHHC14,missense_variant,p.Ala98Pro,ENST00000359775,NM_024630.2;ZDHHC14,missense_variant,p.Ala98Pro,ENST00000414563,NM_153746.1;ZDHHC14,missense_variant,p.Ala17Pro,ENST00000518214,;ZDHHC14,non_coding_transcript_exon_variant,,ENST00000523468,;	C	ENST00000359775	Transcript	missense_variant	1181/7380	292/1467	98/488	A/P	Gct/Cct		1		1	ZDHHC14	HGNC	HGNC:20341	protein_coding	YES	CCDS5252.1	ENSP00000352821	Q8IZN3		UPI00000740DB	NM_024630.2	deleterious(0.01)		2/9		hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF28,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	157542631	157542631	G	C	1	0	0	0	0	1	0	0	0	18180	1087	38	4		4	ZDHHC14	6	157542631	Missense_Mutation	SNP	G	C3N-01823_TP	2106112	157542631	13263348	176	27519											
LPA	0	.	GRCh38	chr6	160590993	160590993	+	Silent	SNP	T	T	C																															aggacacttgattctgtcacTggacattgtgtcaggttgca																								novel		C3N-01823_TP	C3N-01823_NB	T	T																c.3738A>G	p.=	p.P1246P	ENST00000316300	23/39	425	383	42	260	260	0	strelka-varscan-mutect	LPA,synonymous_variant,p.=,ENST00000316300,NM_005577.2;LPA,synonymous_variant,p.=,ENST00000447678,;	C	ENST00000316300	Transcript	synonymous_variant	3783/6414	3738/6123	1246/2040	P	ccA/ccG		1		-1	LPA	HGNC	HGNC:6667	protein_coding	YES	CCDS43523.1	ENSP00000321334	P08519		UPI0000458AC9	NM_005577.2			23/39		Gene3D:2.40.20.10,hmmpanther:PTHR24261,hmmpanther:PTHR24261:SF2,SMART_domains:SM00130,Superfamily_domains:SSF57440																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	83	160590993	160590993	T	C	1	0	0	0	0	0	0	0	1	8806	1567	55	5		5	LPA	6	160590993	Silent	SNP	T	C3N-01823_TP	3048362	160590993	10214986	177	27520	580	2									
LPA	0	.	GRCh38	chr6	160590994	160590994	+	Missense_Mutation	SNP	G	G	T																															ggacacttgattctgtcactGgacattgtgtcaggttgcag																								novel		C3N-01823_TP	C3N-01823_NB	G	G																c.3737C>A	p.Pro1246Gln	p.P1246Q	ENST00000316300	23/39	428	385	43	261	261	0	strelka-varscan-mutect	LPA,missense_variant,p.Pro1246Gln,ENST00000316300,NM_005577.2;LPA,missense_variant,p.Pro493Gln,ENST00000447678,;	T	ENST00000316300	Transcript	missense_variant	3782/6414	3737/6123	1246/2040	P/Q	cCa/cAa		1		-1	LPA	HGNC	HGNC:6667	protein_coding	YES	CCDS43523.1	ENSP00000321334	P08519		UPI0000458AC9	NM_005577.2	tolerated(0.55)		23/39		Gene3D:2.40.20.10,hmmpanther:PTHR24261,hmmpanther:PTHR24261:SF2,SMART_domains:SM00130,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	160590994	160590994	G	T	1	0	0	0	0	1	0	0	0	8806	1348	47	2		2	LPA	6	160590994	Missense_Mutation	SNP	G	C3N-01823_TP	1	160590994	10214985	178	27521	580	2									
C6orf118	0	.	GRCh38	chr6	165298057	165298057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagatccatgtccgccgtCttcaccggcctctgccccag	5	8	10	18	4	3	1	1	0	2	1	5	2	5	1	7	1	1	0	7	1	0	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.981G>T	p.Lys327Asn	p.K327N	ENST00000230301	5/9	133	110	23	94	94	0	strelka-varscan-mutect	C6orf118,missense_variant,p.Lys327Asn,ENST00000230301,NM_144980.3;C6orf118,upstream_gene_variant,,ENST00000494696,;	A	ENST00000230301	Transcript	missense_variant	1002/1812	981/1410	327/469	K/N	aaG/aaT		1		-1	C6orf118	HGNC	HGNC:21233	protein_coding	YES	CCDS5288.1	ENSP00000230301	Q5T5N4		UPI0000367401	NM_144980.3	tolerated(0.06)		5/9		hmmpanther:PTHR34916,Pfam_domain:PF15739																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	165298057	165298057	C	A	1	0	0	0	0	1	0	0	0	2115	912	32	2		2	C6orf118	6	165298057	Missense_Mutation	SNP	C	C3N-01823_TP	4707063	165298057	5507922	179	27522											
MICALL2	0	.	GRCh38	chr7	1438928	1438928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggctccggccgaagccaGttgtcacaaacgtcgaggct	8	6	15	12	4	1	0	1	0	0	0	3	2	2	0	3	4	2	3	3	4	2	1	rs773446328		C3N-01823_TP	C3N-01823_NB	G	G																c.2034C>A	p.Asn678Lys	p.N678K	ENST00000297508	10/17	193	176	17	125	124	1	strelka-varscan-mutect	MICALL2,missense_variant,p.Asn678Lys,ENST00000297508,NM_182924.3;MICALL2,non_coding_transcript_exon_variant,,ENST00000471899,;MICALL2,missense_variant,p.Thr635Asn,ENST00000413446,;MICALL2,non_coding_transcript_exon_variant,,ENST00000472100,;MICALL2,non_coding_transcript_exon_variant,,ENST00000496184,;MICALL2,non_coding_transcript_exon_variant,,ENST00000467394,;MICALL2,non_coding_transcript_exon_variant,,ENST00000479007,;MICALL2,non_coding_transcript_exon_variant,,ENST00000487156,;MICALL2,non_coding_transcript_exon_variant,,ENST00000487187,;MICALL2,intron_variant,,ENST00000467783,;MICALL2,upstream_gene_variant,,ENST00000470807,;MICALL2,upstream_gene_variant,,ENST00000460198,;MICALL2,upstream_gene_variant,,ENST00000493998,;	T	ENST00000297508	Transcript	missense_variant	2210/3121	2034/2715	678/904	N/K	aaC/aaA	rs773446328	1		-1	MICALL2	HGNC	HGNC:29672	protein_coding	YES	CCDS5324.1	ENSP00000297508	Q8IY33		UPI00000742E0	NM_182924.3	deleterious(0.03)		10/17																			MODERATE	1	SNV	1			1										PASS		rs773446328	.												T	3	4	83	1438928	1438928	G	T	1	0	0	0	0	1	0	0	0	9531	1020	36	2		2	MICALL2	7	1438928	Missense_Mutation	SNP	G	C3N-01823_TP		1438928	157907045	180	27523											
INTS1	0	.	GRCh38	chr7	1487903	1487903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcagctcacggttcagCatctccgtccgggtctcctc	4	11	10	16	3	5	0	2	0	3	0	9	0	6	0	3	2	3	4	3	2	0	1	rs764970654		C3N-01823_TP	C3N-01823_NB	C	C																c.2373G>A	p.Met791Ile	p.M791I	ENST00000404767	19/48	512	413	99	274	273	1	strelka-varscan-mutect	INTS1,missense_variant,p.Met791Ile,ENST00000404767,NM_001080453.2;INTS1,non_coding_transcript_exon_variant,,ENST00000468115,;	T	ENST00000404767	Transcript	missense_variant	2459/6959	2373/6573	791/2190	M/I	atG/atA	rs764970654	1		-1	INTS1	HGNC	HGNC:24555	protein_coding	YES	CCDS47526.1	ENSP00000385722	Q8N201		UPI0000D7211C	NM_001080453.2	tolerated(0.46)		19/48		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21224:SF1,hmmpanther:PTHR21224																	MODERATE	1	SNV	5			1										PASS		rs764970654	.												T	3	4	83	1487903	1487903	C	T	1	0	0	0	0	1	0	0	0	7677	710	25	3		3	INTS1	7	1487903	Missense_Mutation	SNP	C	C3N-01823_TP	48975	1487903	157858070	181	27524											
WIPI2	0	.	GRCh38	chr7	5228160	5228160	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgacgggtacctgtacatgtAcaacctggacccccaggagg	10	6	12	13	2	0	0	0	0	0	0	0	3	0	2	4	4	4	3	4	4	4	3	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.1070A>T	p.Tyr357Phe	p.Y357F	ENST00000288828	11/13	298	256	42	157	156	1	varscan-mutect	WIPI2,missense_variant,p.Tyr357Phe,ENST00000288828,NM_015610.3;WIPI2,missense_variant,p.Tyr339Phe,ENST00000401525,NM_016003.3;WIPI2,missense_variant,p.Tyr339Phe,ENST00000382384,NM_001033519.1;WIPI2,missense_variant,p.Tyr357Phe,ENST00000404704,NM_001033518.1;WIPI2,missense_variant,p.Tyr298Phe,ENST00000484262,NM_001278299.1,NM_001033520.1;WIPI2,downstream_gene_variant,,ENST00000488359,;WIPI2,downstream_gene_variant,,ENST00000480238,;WIPI2,non_coding_transcript_exon_variant,,ENST00000471851,;WIPI2,non_coding_transcript_exon_variant,,ENST00000466014,;WIPI2,upstream_gene_variant,,ENST00000479690,;	T	ENST00000288828	Transcript	missense_variant	1302/4476	1070/1365	357/454	Y/F	tAc/tTc		1		1	WIPI2	HGNC	HGNC:32225	protein_coding	YES	CCDS5339.1	ENSP00000288828	Q9Y4P8	A0A024R823	UPI0000073E34	NM_015610.3	tolerated(0.07)		11/13		Gene3D:2.130.10.10,hmmpanther:PTHR11227,hmmpanther:PTHR11227:SF27,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	5228160	5228160	A	T	1	0	0	0	0	1	0	0	0	17927	391	14	4		4	WIPI2	7	5228160	Missense_Mutation	SNP	A	C3N-01823_TP	3740257	5228160	154117813	182	27525											
COL28A1	0	.	GRCh38	chr7	7381603	7381603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggaagccttgtggtcCttgttccccctacataggat	6	12	11	12	0	0	0	0	0	0	0	2	2	2	2	5	3	2	1	5	3	3	5	rs267601567		C3N-01823_TP	C3N-01823_NB	C	C																c.2146G>A	p.Gly716Arg	p.G716R	ENST00000399429	28/35	355	288	67	234	234	0	strelka-varscan-mutect	COL28A1,missense_variant,p.Gly716Arg,ENST00000399429,NM_001037763.2;	T	ENST00000399429	Transcript	missense_variant	2287/4277	2146/3378	716/1125	G/R	Gga/Aga	rs267601567	1		-1	COL28A1	HGNC	HGNC:22442	protein_coding	YES	CCDS43553.1	ENSP00000382356	Q2UY09		UPI000155D64E	NM_001037763.2	deleterious(0)		28/35		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF578																	MODERATE	1	SNV	1			1										PASS		rs267601567	.												T	3	4	83	7381603	7381603	C	T	1	0	0	0	0	1	0	0	0	3475	690	24	3		3	COL28A1	7	7381603	Missense_Mutation	SNP	C	C3N-01823_TP	2153443	7381603	151964370	183	27526											
AGMO	0	.	GRCh38	chr7	15544895	15544895	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagatataaatataacTggtcagttcaatgctcctga	13	12	6	10	0	2	2	2	1	0	1	4	2	4	2	2	1	2	2	2	1	6	5	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.286A>G	p.Ser96Gly	p.S96G	ENST00000342526	3/13	148	135	13	96	96	0	strelka-varscan-mutect	AGMO,missense_variant,p.Ser96Gly,ENST00000342526,NM_001004320.1;	C	ENST00000342526	Transcript	missense_variant	456/2475	286/1338	96/445	S/G	Agt/Ggt		1		-1	AGMO	HGNC	HGNC:33784	protein_coding	YES	CCDS34604.1	ENSP00000341662	Q6ZNB7	X5D773	UPI0000050343	NM_001004320.1	tolerated(0.16)		3/13		hmmpanther:PTHR21624,hmmpanther:PTHR21624:SF1																	MODERATE	1	SNV	1			1										PASS		rs1483381569	.												C	3	2	83	15544895	15544895	T	C	1	0	0	0	0	1	0	0	0	463	1580	55	5		5	AGMO	7	15544895	Missense_Mutation	SNP	T	C3N-01823_TP	8163292	15544895	143801078	184	27527											
NUPL2	0	.	GRCh38	chr7	23200707	23200707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatttactctgggaaaaattCcattaaagcctccacctctg	13	12	5	11	0	2	0	0	0	2	0	4	1	4	1	4	1	2	0	4	1	6	4	rs267601462		C3N-01823_TP	C3N-01823_NB	C	C																c.1234C>T	p.Pro412Ser	p.P412S	ENST00000258742	7/7	119	107	12	53	53	0	strelka-varscan-mutect	NUPL2,missense_variant,p.Pro412Ser,ENST00000258742,NM_007342.2;NUPL2,downstream_gene_variant,,ENST00000413919,;NUPL2,downstream_gene_variant,,ENST00000548367,;NUPL2,downstream_gene_variant,,ENST00000487595,;NUPL2,3_prime_UTR_variant,,ENST00000438012,;NUPL2,3_prime_UTR_variant,,ENST00000437140,;NUPL2,non_coding_transcript_exon_variant,,ENST00000477844,;NUPL2,non_coding_transcript_exon_variant,,ENST00000485250,;NUPL2,non_coding_transcript_exon_variant,,ENST00000489145,;NUPL2,downstream_gene_variant,,ENST00000486136,;	T	ENST00000258742	Transcript	missense_variant	1493/1795	1234/1272	412/423	P/S	Cca/Tca	rs267601462	1		1	NUPL2	HGNC	HGNC:17010	protein_coding	YES	CCDS5379.1	ENSP00000258742	O15504		UPI0000072A3C	NM_007342.2	deleterious(0)		7/7		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs267601462	.												T	3	4	83	23200707	23200707	C	T	1	0	0	0	0	1	0	0	0	10840	855	30	3		3	NUPL2	7	23200707	Missense_Mutation	SNP	C	C3N-01823_TP	7655812	23200707	136145266	185	27528											
SCRN1	0	.	GRCh38	chr7	29926626	29926626	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaagatgaaaggcttgaaTatggacctggagaggaagga	17	6	14	4	0	0	4	0	2	0	2	0	8	0	7	1	5	0	1	1	5	5	2	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.972A>T	p.=	p.I324I	ENST00000434476	7/8	146	138	8	77	77	0	strelka-varscan-mutect	SCRN1,synonymous_variant,p.=,ENST00000426154,NM_001145513.1;SCRN1,synonymous_variant,p.=,ENST00000242059,NM_014766.4;SCRN1,synonymous_variant,p.=,ENST00000409497,;SCRN1,synonymous_variant,p.=,ENST00000425819,NM_001145515.1;SCRN1,synonymous_variant,p.=,ENST00000434476,NM_001145514.1;	A	ENST00000434476	Transcript	synonymous_variant	1021/1454	972/1305	324/434	I	atA/atT		1		-1	SCRN1	HGNC	HGNC:22192	protein_coding	YES	CCDS47567.1	ENSP00000388942	Q12765		UPI000194EC2F	NM_001145514.1			7/8		hmmpanther:PTHR12994:SF7,hmmpanther:PTHR12994																	LOW	1	SNV	2			1										PASS		rs1396173846	.												A	2	1	83	29926626	29926626	T	A	1	0	0	0	0	0	0	0	1	14208	1396	49	4		4	SCRN1	7	29926626	Silent	SNP	T	C3N-01823_TP	6725919	29926626	129419347	186	27529											
AMPH	0	.	GRCh38	chr7	38465510	38465510	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgtcggcgtgctggtCacccagttttgtcatcactt	4	14	11	12	2	3	0	3	0	0	0	4	0	3	0	2	3	1	2	2	3	0	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.706G>T	p.Asp236Tyr	p.D236Y	ENST00000356264	9/21	313	260	53	228	228	0	strelka-varscan-mutect	AMPH,missense_variant,p.Asp236Tyr,ENST00000356264,NM_001635.3;AMPH,missense_variant,p.Asp236Tyr,ENST00000325590,NM_139316.2;AMPH,upstream_gene_variant,,ENST00000441628,;	A	ENST00000356264	Transcript	missense_variant	922/3418	706/2088	236/695	D/Y	Gac/Tac		1		-1	AMPH	HGNC	HGNC:471	protein_coding	YES	CCDS5456.1	ENSP00000348602	P49418		UPI00001259EA	NM_001635.3	deleterious(0)		9/21		Prints_domain:PR01252,PROSITE_profiles:PS51021,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF211																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	38465510	38465510	C	A	1	0	0	0	0	1	0	0	0	686	826	29	2		2	AMPH	7	38465510	Missense_Mutation	SNP	C	C3N-01823_TP	8538884	38465510	120880463	187	27530											
HECW1	0	.	GRCh38	chr7	43442605	43442605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagctgcaattccgatttGagatcacttcctccatccac	10	11	6	14	1	1	1	1	1	0	1	5	4	5	1	4	0	2	2	4	0	1	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1021G>A	p.Glu341Lys	p.E341K	ENST00000395891	10/30	351	327	24	187	187	0	strelka-varscan-mutect	HECW1,missense_variant,p.Glu341Lys,ENST00000395891,NM_015052.4;HECW1,missense_variant,p.Glu341Lys,ENST00000453890,NM_001287059.1;HECW1,downstream_gene_variant,,ENST00000471043,;HECW1,downstream_gene_variant,,ENST00000492310,;	A	ENST00000395891	Transcript	missense_variant	1626/9501	1021/4821	341/1606	E/K	Gag/Aag		1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4	deleterious(0)		10/30		hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254,Gene3D:2.60.40.150																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	43442605	43442605	G	A	1	0	0	0	0	1	0	0	0	6924	1291	45	3		3	HECW1	7	43442605	Missense_Mutation	SNP	G	C3N-01823_TP	4977095	43442605	115903368	188	27531											
TNS3	0	.	GRCh38	chr7	47369277	47369277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacctgggctggcaccaCgtggcgggtcccactgtact	6	8	14	13	2	0	1	0	1	0	0	1	1	1	1	3	4	2	3	3	4	2	1	rs751534391		C3N-01823_TP	C3N-01823_NB	C	C																c.1369G>T	p.Val457Leu	p.V457L	ENST00000311160	17/31	581	451	130	291	291	0	strelka-varscan-mutect	TNS3,missense_variant,p.Val457Leu,ENST00000311160,NM_022748.11;TNS3,missense_variant,p.Val560Leu,ENST00000457718,;TNS3,downstream_gene_variant,,ENST00000450444,;TNS3,downstream_gene_variant,,ENST00000469470,;	A	ENST00000311160	Transcript	missense_variant	1727/7618	1369/4338	457/1445	V/L	Gtg/Ttg	rs751534391,COSM241981	1		-1	TNS3	HGNC	HGNC:21616	protein_coding	YES	CCDS5506.2	ENSP00000312143	Q68CZ2		UPI00001AE9DA	NM_022748.11	tolerated(0.4)		17/31													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs751534391	.												A	3	1	83	47369277	47369277	C	A	1	0	0	0	0	1	0	0	0	16818	536	19	1		1	TNS3	7	47369277	Missense_Mutation	SNP	C	C3N-01823_TP	3926672	47369277	111976696	189	27532											
PKD1L1	0	.	GRCh38	chr7	47837052	47837052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtacaccgacagccagaCatggaaatcctccaggtact	12	7	9	13	1	0	1	0	0	0	1	2	3	2	2	4	2	3	3	4	2	3	2	rs770135589		C3N-01823_TP	C3N-01823_NB	C	C																c.5812G>C	p.Val1938Leu	p.V1938L	ENST00000289672	37/57	280	237	43	148	148	0	strelka-varscan-mutect	PKD1L1,missense_variant,p.Val1938Leu,ENST00000289672,NM_138295.3;HUS1,intron_variant,,ENST00000436444,;	G	ENST00000289672	Transcript	missense_variant	5863/9092	5812/8550	1938/2849	V/L	Gtc/Ctc	rs770135589	1		-1	PKD1L1	HGNC	HGNC:18053	protein_coding	YES	CCDS34633.1	ENSP00000289672	Q8TDX9		UPI0000130FA9	NM_138295.3	tolerated(0.2)		37/57		hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF145																	MODERATE	1	SNV	1			1										PASS		rs770135589	.												G	3	3	83	47837052	47837052	C	G	1	0	0	0	0	1	0	0	0	12060	478	17	4		4	PKD1L1	7	47837052	Missense_Mutation	SNP	C	C3N-01823_TP	467775	47837052	111508921	190	27533											
ABCA13	0	.	GRCh38	chr7	48403729	48403729	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatcagcacaaacagaccCgagctctgtctggaggcctg	11	6	11	13	1	3	1	1	0	2	1	3	3	3	2	2	2	4	3	2	2	1	0	rs544438554		C3N-01823_TP	C3N-01823_NB	C	C																c.11920C>G	p.Arg3974Gly	p.R3974G	ENST00000435803	39/62	282	245	37	167	167	0	strelka-varscan-mutect	ABCA13,missense_variant,p.Arg3974Gly,ENST00000435803,NM_152701.4;ABCA13,missense_variant,p.Arg1281Gly,ENST00000544596,;ABCA13,non_coding_transcript_exon_variant,,ENST00000611776,;ABCA13,missense_variant,p.Arg240Gly,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;	G	ENST00000435803	Transcript	missense_variant	11944/17184	11920/15177	3974/5058	R/G	Cga/Gga	rs544438554	1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4	tolerated(0.38)		39/62		PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs544438554	.												G	3	3	83	48403729	48403729	C	G	1	0	0	0	0	1	0	0	0	35	644	23	4		4	ABCA13	7	48403729	Missense_Mutation	SNP	C	C3N-01823_TP	566677	48403729	110942244	191	27534											
POM121L12	0	.	GRCh38	chr7	53036434	53036434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgatgcttggccttccGtgctggtccagcccgcccca	4	10	12	15	2	0	2	0	2	0	0	2	2	2	2	6	2	3	2	6	2	0	2	rs777106124		C3N-01823_TP	C3N-01823_NB	G	G																c.763G>C	p.Val255Leu	p.V255L	ENST00000408890	1/1	289	248	41	178	178	0	strelka-varscan-mutect	POM121L12,missense_variant,p.Val255Leu,ENST00000408890,NM_182595.3;	C	ENST00000408890	Transcript	missense_variant	793/1283	763/891	255/296	V/L	Gtg/Ctg	rs777106124,COSM4969533	1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3	tolerated(0.69)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30											0,1						MODERATE	1	SNV			0,1	1										PASS		rs777106124	.												C	3	2	83	53036434	53036434	G	C	1	0	0	0	0	1	0	0	0	12352	1145	40	4		4	POM121L12	7	53036434	Missense_Mutation	SNP	G	C3N-01823_TP	4632705	53036434	106309539	192	27535											
BAZ1B	0	.	GRCh38	chr7	73442754	73442754	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagctgaagcggtacttcacGatcttgtggaggatctcttc	8	12	11	10	2	3	1	1	1	2	0	5	4	3	3	0	3	3	2	0	3	2	4	rs140665563		C3N-01823_TP	C3N-01823_NB	G	G																c.4065C>G	p.Ile1355Met	p.I1355M	ENST00000339594	18/20	152	144	8	87	87	0	strelka-varscan-mutect	BAZ1B,missense_variant,p.Ile1355Met,ENST00000339594,NM_032408.3;BAZ1B,missense_variant,p.Ile1355Met,ENST00000404251,;	C	ENST00000339594	Transcript	missense_variant	4404/6102	4065/4452	1355/1483	I/M	atC/atG	rs140665563	1		-1	BAZ1B	HGNC	HGNC:961	protein_coding	YES	CCDS5549.1	ENSP00000342434	Q9UIG0		UPI0000126731	NM_032408.3	tolerated(0.18)		18/20		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF145,Pfam_domain:PF00439,Gene3D:1.20.920.10,SMART_domains:SM00297,Superfamily_domains:SSF47370																	MODERATE	1	SNV	1			1										PASS		rs140665563	.												C	3	2	83	73442754	73442754	G	C	1	0	0	0	0	1	0	0	0	1475	1048	37	4		4	BAZ1B	7	73442754	Missense_Mutation	SNP	G	C3N-01823_TP	20406320	73442754	85903219	193	27536											
DYNC1I1	0	.	GRCh38	chr7	95996046	95996046	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgaagtttaagaaaacCacaccagaatacgtcttcca	18	8	5	10	1	1	3	0	1	1	2	2	3	2	3	3	0	3	1	3	0	7	4	rs778710835		C3N-01823_TP	C3N-01823_NB	C	C																c.993C>A	p.=	p.T331T	ENST00000324972	10/17	263	204	59	209	208	1	strelka-varscan-mutect	DYNC1I1,synonymous_variant,p.=,ENST00000324972,NM_004411.4;DYNC1I1,synonymous_variant,p.=,ENST00000447467,NM_001135556.1;DYNC1I1,synonymous_variant,p.=,ENST00000437599,NM_001278421.1;DYNC1I1,synonymous_variant,p.=,ENST00000359388,NM_001135557.1;DYNC1I1,synonymous_variant,p.=,ENST00000457059,;DYNC1I1,synonymous_variant,p.=,ENST00000630942,NM_001278422.1;DYNC1I1,synonymous_variant,p.=,ENST00000537881,;DYNC1I1,non_coding_transcript_exon_variant,,ENST00000519371,;	A	ENST00000324972	Transcript	synonymous_variant	1186/2950	993/1938	331/645	T	acC/acA	rs778710835	1		1	DYNC1I1	HGNC	HGNC:2963	protein_coding	YES	CCDS5644.1	ENSP00000320130	O14576	A4D1I7	UPI0000129A01	NM_004411.4			10/17		PROSITE_profiles:PS50294,hmmpanther:PTHR12442:SF34,hmmpanther:PTHR12442,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		rs778710835	.												A	2	1	83	95996046	95996046	C	A	1	0	0	0	0	0	0	0	1	4666	581	21	2		2	DYNC1I1	7	95996046	Silent	SNP	C	C3N-01823_TP	22553292	95996046	63349927	194	27537											
RELN	0	.	GRCh38	chr7	103917110	103917110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaacctccaatgctctgtGatgcctgaacacttgtagat	10	12	9	10	0	1	3	0	2	1	1	2	4	2	4	3	1	4	2	3	1	4	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.302C>T	p.Ser101Leu	p.S101L	ENST00000428762	2/65	484	355	129	381	380	1	strelka-varscan-mutect	RELN,missense_variant,p.Ser101Leu,ENST00000424685,;RELN,missense_variant,p.Ser101Leu,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Ser101Leu,ENST00000343529,NM_173054.2;	A	ENST00000428762	Transcript	missense_variant	462/11571	302/10383	101/3460	S/L	tCa/tTa		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3	tolerated(0.07)		2/65		Low_complexity_(Seg):seg,PROSITE_profiles:PS51019,Pfam_domain:PF02014																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	83	103917110	103917110	G	A	1	0	0	0	0	1	0	0	0	13390	1294	45	3		3	RELN	7	103917110	Missense_Mutation	SNP	G	C3N-01823_TP	7921064	103917110	55428863	195	27538											
CPED1	0	.	GRCh38	chr7	121266772	121266772	+	Frame_Shift_Del	DEL	C	C	-																															tggtgttcagtggcttaattCcaatcacctgcaaattattc																								rs148319751		C3N-01823_TP	C3N-01823_NB	C	C																c.2598delC	p.Asn867IlefsTer10	p.N867Ifs*10	ENST00000310396	20/23	260	216	44	205	205	0	sindel-varindel-pindel	CPED1,frameshift_variant,p.Asn867IlefsTer10,ENST00000310396,NM_024913.4;CPED1,downstream_gene_variant,,ENST00000450913,NM_001105533.1;CPED1,downstream_gene_variant,,ENST00000423795,;CPED1,downstream_gene_variant,,ENST00000466055,;	-	ENST00000310396	Transcript	frameshift_variant	3064/5340	2597/3081	866/1026	S/X	tCc/tc	rs148319751	1		1	CPED1	HGNC	HGNC:26159	protein_coding	YES	CCDS34739.1	ENSP00000309772	A4D0V7		UPI000013C813	NM_024913.4			20/23		hmmpanther:PTHR14776																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	83	121266772	121266772	C	-	1	0	1	0	1	0	0	0	0	3598	855	30	0		0	CPED1	7	121266772	Frame_Shift_Del	DEL	C	C3N-01823_TP	17349662	121266772	38079201	196	27539											
GRM8	0	.	GRCh38	chr7	126446277	126446277	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acattctgttctggatgaaaAattataatataaaccttggg	15	14	7	5	0	2	1	0	1	2	0	2	2	2	2	1	2	1	1	1	2	7	7	rs185276581		C3N-01823_TP	C3N-01823_NB	A	A																c.2526T>G	p.Ile842Met	p.I842M	ENST00000339582	10/11	312	253	59	209	209	0	strelka-varscan-mutect	GRM8,missense_variant,p.Ile842Met,ENST00000339582,NM_000845.2;GRM8,missense_variant,p.Ile842Met,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Ile350Met,ENST00000444921,;GRM8,non_coding_transcript_exon_variant,,ENST00000489939,;GRM8,non_coding_transcript_exon_variant,,ENST00000495315,;GRM8,missense_variant,p.Ile842Met,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	C	ENST00000339582	Transcript	missense_variant	3335/4057	2526/2727	842/908	I/M	atT/atG	rs185276581	1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2	tolerated(0.06)		10/11		PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26																	MODERATE	1	SNV	5			1										PASS		rs185276581	.												C	3	2	83	126446277	126446277	A	C	1	0	0	0	0	1	0	0	0	6685	10	1	5		5	GRM8	7	126446277	Missense_Mutation	SNP	A	C3N-01823_TP	5179505	126446277	32899696	197	27540											
SMO	0	.	GRCh38	chr7	129203577	129203577	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactcctgaccgcttcccTgaaggctgcacggtgagtgc	6	9	12	14	2	0	3	0	3	0	0	2	3	2	3	3	2	3	4	3	2	1	1	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.525T>A	p.=	p.P175P	ENST00000249373	2/12	142	93	49	83	83	0	strelka-varscan-mutect	SMO,synonymous_variant,p.=,ENST00000249373,NM_005631.4;SMO,upstream_gene_variant,,ENST00000462420,;SMO,upstream_gene_variant,,ENST00000495998,;	A	ENST00000249373	Transcript	synonymous_variant	805/3738	525/2364	175/787	P	ccT/ccA		1		1	SMO	HGNC	HGNC:11119	protein_coding	YES	CCDS5811.1	ENSP00000249373	Q99835		UPI0000050447	NM_005631.4			2/12		PROSITE_profiles:PS50038,hmmpanther:PTHR11309:SF35,hmmpanther:PTHR11309,Gene3D:1ijyA00,Pfam_domain:PF01392,SMART_domains:SM00063,Superfamily_domains:SSF63501																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	83	129203577	129203577	T	A	1	0	0	0	0	0	0	0	1	15121	1567	55	4		4	SMO	7	129203577	Silent	SNP	T	C3N-01823_TP	2757300	129203577	30142396	198	27541											
KLRG2	0	.	GRCh38	chr7	139453647	139453647	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtttgcagccaccagCgtgccttcctccagggcccc	5	8	10	18	1	0	0	0	0	0	0	2	0	2	0	7	1	5	3	7	1	0	2	rs151265889		C3N-01823_TP	C3N-01823_NB	C	C																c.1170G>C	p.=	p.T390T	ENST00000340940	5/5	526	469	57	316	315	1	strelka-varscan-mutect	KLRG2,missense_variant,p.Arg273Pro,ENST00000393039,;KLRG2,synonymous_variant,p.=,ENST00000340940,NM_198508.2;RNU6-911P,downstream_gene_variant,,ENST00000516523,;	G	ENST00000340940	Transcript	synonymous_variant	1240/2197	1170/1230	390/409	T	acG/acC	rs151265889	1		-1	KLRG2	HGNC	HGNC:24778	protein_coding	YES	CCDS5854.1	ENSP00000339356	A4D1S0		UPI00001C0C37	NM_198508.2			5/5		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF133,SMART_domains:SM00034,Superfamily_domains:SSF56436																	LOW	1	SNV	1			1										PASS		rs151265889	.												G	2	3	83	139453647	139453647	C	G	1	0	0	0	0	0	0	0	1	8292	768	27	4		4	KLRG2	7	139453647	Silent	SNP	C	C3N-01823_TP	10250070	139453647	19892326	199	27542											
HIPK2	0	.	GRCh38	chr7	139600527	139600527	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgtgctgctggaagggtCacatgaccggtcaatagtgc	8	9	15	9	1	2	1	2	1	0	0	2	2	2	2	1	4	3	3	1	4	3	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.2325G>A	p.=	p.V775V	ENST00000406875	11/15	291	271	20	169	169	0	strelka-varscan-mutect	HIPK2,synonymous_variant,p.=,ENST00000406875,NM_022740.4;HIPK2,synonymous_variant,p.=,ENST00000428878,NM_001113239.2;HIPK2,synonymous_variant,p.=,ENST00000342645,;	T	ENST00000406875	Transcript	synonymous_variant	2420/15049	2325/3597	775/1198	V	gtG/gtA		1		-1	HIPK2	HGNC	HGNC:14402	protein_coding	YES	CCDS75667.1	ENSP00000385571	Q9H2X6		UPI000012C71E	NM_022740.4			11/15																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	139600527	139600527	C	T	1	0	0	0	0	0	0	0	1	7005	813	29	3		3	HIPK2	7	139600527	Silent	SNP	C	C3N-01823_TP	146880	139600527	19745446	200	27543											
TAS2R3	0	.	GRCh38	chr7	141764178	141764178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgatgggactcaccgaggGggtgttcctgattctgtctg	6	12	14	9	1	3	2	1	2	2	0	4	4	4	3	2	3	0	1	2	3	0	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.20G>T	p.Gly7Val	p.G7V	ENST00000247879	1/1	117	99	18	79	79	0	strelka-varscan-mutect	TAS2R3,missense_variant,p.Gly7Val,ENST00000247879,NM_016943.2;SSBP1,intron_variant,,ENST00000465582,;	T	ENST00000247879	Transcript	missense_variant	82/1101	20/951	7/316	G/V	gGg/gTg		1		1	TAS2R3	HGNC	HGNC:14910	protein_coding	YES	CCDS5867.1	ENSP00000247879	Q9NYW6		UPI0000038B0B	NM_016943.2	tolerated(0.59)		1/1		Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF49,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	83	141764178	141764178	G	T	1	0	0	0	0	1	0	0	0	15971	1232	43	2		2	TAS2R3	7	141764178	Missense_Mutation	SNP	G	C3N-01823_TP	2163651	141764178	17581795	201	27544											
OR2A1	0	.	GRCh38	chr7	144318287	144318287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcactggactccagactcCacacccccatgtacttcttc	8	11	4	18	0	2	1	1	0	2	1	6	2	4	2	4	1	1	1	4	1	1	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.163C>T	p.His55Tyr	p.H55Y	ENST00000408951	1/1	461	407	54	268	268	0	varscan-mutect	OR2A1,missense_variant,p.His55Tyr,ENST00000408951,NM_001005287.1;OR2A1-AS1,intron_variant,,ENST00000463561,;OR2A1-AS1,intron_variant,,ENST00000486094,;OR2A1-AS1,intron_variant,,ENST00000476560,;OR2A1-AS1,intron_variant,,ENST00000487102,;OR2A1-AS1,intron_variant,,ENST00000475089,;OR2A1-AS1,intron_variant,,ENST00000478806,;OR2A1-AS1,intron_variant,,ENST00000488041,;OR2A1-AS1,intron_variant,,ENST00000496968,;OR2A1-AS1,intron_variant,,ENST00000489488,;OR2A1-AS1,intron_variant,,ENST00000467944,;OR2A1-AS1,intron_variant,,ENST00000461843,;OR2A1-AS1,intron_variant,,ENST00000493539,;OR2A1-AS1,downstream_gene_variant,,ENST00000478925,;	T	ENST00000408951	Transcript	missense_variant	163/933	163/933	55/310	H/Y	Cac/Tac		1		1	OR2A1	HGNC	HGNC:8229	protein_coding	YES	CCDS43673.1	ENSP00000386175	Q8NGT9		UPI0000041DF3	NM_001005287.1	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF115,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	83	144318287	144318287	C	T	1	0	0	0	0	1	0	0	0	11051	594	21	3		3	OR2A1	7	144318287	Missense_Mutation	SNP	C	C3N-01823_TP	2554109	144318287	15027686	202	27545											
KCNH2	0	.	GRCh38	chr7	150950977	150950977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggaagtactcctcgaGgcgctggcgcaggggattgg	6	8	18	9	3	0	0	0	0	0	0	2	3	1	2	1	6	2	4	1	6	2	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2089C>A	p.Leu697Ile	p.L697I	ENST00000262186	8/15	363	321	42	259	259	0	strelka-varscan-mutect	KCNH2,missense_variant,p.Leu697Ile,ENST00000262186,NM_000238.3;KCNH2,missense_variant,p.Leu357Ile,ENST00000330883,NM_172057.2;KCNH2,missense_variant,p.Leu581Ile,ENST00000430723,NM_172056.2;KCNH2,non_coding_transcript_exon_variant,,ENST00000532957,;KCNH2,non_coding_transcript_exon_variant,,ENST00000473610,;KCNH2,non_coding_transcript_exon_variant,,ENST00000461280,;	T	ENST00000262186	Transcript	missense_variant	2491/4286	2089/3480	697/1159	L/I	Ctc/Atc		1		-1	KCNH2	HGNC	HGNC:6251	protein_coding	YES	CCDS5910.1	ENSP00000262186	Q12809	A0A090N8Q0	UPI0000062255	NM_000238.3	deleterious(0.02)		8/15		Gene3D:3bpzA01,Prints_domain:PR01470,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF506,Superfamily_domains:SSF51206																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	150950977	150950977	G	T	1	0	0	0	0	1	0	0	0	7948	1000	35	2		2	KCNH2	7	150950977	Missense_Mutation	SNP	G	C3N-01823_TP	6632690	150950977	8394996	203	27546											
CSMD1	0	.	GRCh38	chr8	2966587	2966587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgtgcagtcgggagcaGtgcctgtccaggtcccattg	7	10	13	11	1	0	0	0	0	0	0	3	1	2	1	3	2	4	2	3	2	1	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.9086C>G	p.Thr3029Ser	p.T3029S	ENST00000520002	59/71	167	156	11	103	103	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Thr2890Ser,ENST00000537824,;CSMD1,missense_variant,p.Thr2446Ser,ENST00000335551,;CSMD1,missense_variant,p.Thr3029Ser,ENST00000520002,;CSMD1,missense_variant,p.Thr3029Ser,ENST00000602557,;CSMD1,missense_variant,p.Thr3028Ser,ENST00000635120,NM_033225.5;CSMD1,intron_variant,,ENST00000400186,;CSMD1,intron_variant,,ENST00000602723,;	C	ENST00000520002	Transcript	missense_variant	9642/11740	9086/10698	3029/3565	T/S	aCt/aGt		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		tolerated(0.58)		59/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		rs903799594	.												C	3	2	83	2966587	2966587	G	C	1	0	0	0	0	1	0	0	0	3745	1029	36	4		4	CSMD1	8	2966587	Missense_Mutation	SNP	G	C3N-01823_TP		2966587	142172049	204	27547											
CSMD1	0	.	GRCh38	chr8	3018511	3018511	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgccgctccagagcccAtttgccaagcactctctgac	7	9	8	17	2	1	2	0	1	1	1	4	2	2	2	4	0	4	3	4	0	1	1	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.7998T>A	p.Asn2666Lys	p.N2666K	ENST00000520002	53/71	166	154	12	129	129	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Asn2527Lys,ENST00000537824,;CSMD1,missense_variant,p.Asn2083Lys,ENST00000335551,;CSMD1,missense_variant,p.Asn2666Lys,ENST00000520002,;CSMD1,missense_variant,p.Asn2666Lys,ENST00000602557,;CSMD1,missense_variant,p.Asn2665Lys,ENST00000635120,NM_033225.5;CSMD1,intron_variant,,ENST00000400186,;CSMD1,intron_variant,,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000519623,;	T	ENST00000520002	Transcript	missense_variant	8554/11740	7998/10698	2666/3565	N/K	aaT/aaA		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0)		53/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		rs1336520131	.												T	3	4	83	3018511	3018511	A	T	1	0	0	0	0	1	0	0	0	3745	214	8	4		4	CSMD1	8	3018511	Missense_Mutation	SNP	A	C3N-01823_TP	51924	3018511	142120125	205	27548											
CSMD1	0	.	GRCh38	chr8	3387504	3387504	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacctaccgtcgcagctGggcaaggcgtggttccactg	6	9	13	13	3	0	0	0	0	0	0	2	0	1	0	3	3	3	5	3	3	3	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2775C>A	p.=	p.P925P	ENST00000520002	19/71	94	84	10	74	74	0	strelka-varscan-mutect	CSMD1,synonymous_variant,p.=,ENST00000537824,;CSMD1,synonymous_variant,p.=,ENST00000335551,;CSMD1,synonymous_variant,p.=,ENST00000520002,;CSMD1,synonymous_variant,p.=,ENST00000602557,;CSMD1,synonymous_variant,p.=,ENST00000635120,NM_033225.5;CSMD1,synonymous_variant,p.=,ENST00000400186,;CSMD1,synonymous_variant,p.=,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	T	ENST00000520002	Transcript	synonymous_variant	3331/11740	2775/10698	925/3565	P	ccC/ccA		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB				19/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	83	3387504	3387504	G	T	1	0	0	0	0	0	0	0	1	3745	1335	47	2		2	CSMD1	8	3387504	Silent	SNP	G	C3N-01823_TP	368993	3387504	141751132	206	27549											
CSMD1	0	.	GRCh38	chr8	3997993	3997993	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaccagcgcaatggtgtccCcgggctcagccagaatggtc	9	6	13	13	2	1	2	1	0	0	2	3	2	2	2	4	3	2	2	4	3	2	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.728G>T	p.Gly243Val	p.G243V	ENST00000520002	5/71	338	319	19	210	210	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Gly105Val,ENST00000537824,;CSMD1,missense_variant,p.Gly243Val,ENST00000520002,;CSMD1,missense_variant,p.Gly243Val,ENST00000602557,;CSMD1,missense_variant,p.Gly243Val,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Gly243Val,ENST00000400186,;CSMD1,missense_variant,p.Gly243Val,ENST00000602723,;	A	ENST00000520002	Transcript	missense_variant	1284/11740	728/10698	243/3565	G/V	gGg/gTg		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0)		5/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	83	3997993	3997993	C	A	1	0	0	0	0	1	0	0	0	3745	623	22	2		2	CSMD1	8	3997993	Missense_Mutation	SNP	C	C3N-01823_TP	610489	3997993	141140643	207	27550											
TNKS	0	.	GRCh38	chr8	9556017	9556017	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccccaggggcttcagcGccgccgccgccacctcctcc	3	4	10	24	5	1	0	1	0	0	0	3	0	3	0	10	2	1	1	10	2	0	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.78G>A	p.=	p.A26A	ENST00000310430	1/27	218	201	17	137	136	1	strelka-varscan-mutect	TNKS,synonymous_variant,p.=,ENST00000310430,NM_003747.2;TNKS,synonymous_variant,p.=,ENST00000522110,;TNKS,synonymous_variant,p.=,ENST00000520408,;RP11-375N15.2,non_coding_transcript_exon_variant,,ENST00000607598,;	A	ENST00000310430	Transcript	synonymous_variant	104/9620	78/3984	26/1327	A	gcG/gcA		1		1	TNKS	HGNC	HGNC:11941	protein_coding	YES	CCDS5974.1	ENSP00000311579	O95271		UPI000013F00D	NM_003747.2			1/27		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs748879488	.												A	2	1	83	9556017	9556017	G	A	1	0	0	0	0	0	0	0	1	16792	1074	38	1		1	TNKS	8	9556017	Silent	SNP	G	C3N-01823_TP	5558024	9556017	135582619	208	27551											
PRSS55	0	.	GRCh38	chr8	10538688	10538688	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggacttctgtcaaacagaaAcctatgggctccccagtctc	11	9	8	13	0	3	1	1	0	2	1	5	2	4	2	3	2	2	1	3	2	3	2	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.954A>T	p.Lys318Asn	p.K318N	ENST00000328655	5/5	172	151	21	116	115	1	strelka-varscan-mutect	PRSS55,missense_variant,p.Lys318Asn,ENST00000328655,NM_198464.3;PRSS51,intron_variant,,ENST00000637190,;PRSS55,intron_variant,,ENST00000522210,NM_001197020.1;PRSS55,intron_variant,,ENST00000518641,;PRSS51,intron_variant,,ENST00000523024,;	T	ENST00000328655	Transcript	missense_variant	994/1124	954/1059	318/352	K/N	aaA/aaT		1		1	PRSS55	HGNC	HGNC:30824	protein_coding	YES	CCDS5976.1	ENSP00000333003	Q6UWB4		UPI0000160C84	NM_198464.3	deleterious(0.01)		5/5																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	10538688	10538688	A	T	1	0	0	0	0	1	0	0	0	12783	40	2	4		4	PRSS55	8	10538688	Missense_Mutation	SNP	A	C3N-01823_TP	982671	10538688	134599948	209	27552											
GFRA2	0	.	GRCh38	chr8	21750766	21750766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcacccggtcgaagaactGgcgcagggccttgtggcact	7	6	16	12	3	0	1	0	0	0	1	1	2	0	1	2	5	1	3	2	5	2	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.616C>A	p.Gln206Lys	p.Q206K	ENST00000524240	4/9	489	446	43	353	353	0	strelka-varscan-mutect	GFRA2,missense_variant,p.Gln206Lys,ENST00000524240,NM_001495.4;GFRA2,missense_variant,p.Gln206Lys,ENST00000517328,;GFRA2,missense_variant,p.Gln73Lys,ENST00000518077,NM_001165039.1;GFRA2,missense_variant,p.Gln101Lys,ENST00000517892,NM_001165038.1;GFRA2,missense_variant,p.Gln206Lys,ENST00000522071,;GFRA2,3_prime_UTR_variant,,ENST00000306793,;	T	ENST00000524240	Transcript	missense_variant	1267/4921	616/1395	206/464	Q/K	Cag/Aag		1		-1	GFRA2	HGNC	HGNC:4244	protein_coding	YES	CCDS47816.1	ENSP00000428518	O00451		UPI000000D9B1	NM_001495.4	deleterious(0.02)		4/9		hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF4,PIRSF_domain:PIRSF038071,Pfam_domain:PF02351,SMART_domains:SM00907,Prints_domain:PR01316																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	21750766	21750766	G	T	1	0	0	0	0	1	0	0	0	6222	1357	47	2		2	GFRA2	8	21750766	Missense_Mutation	SNP	G	C3N-01823_TP	11212078	21750766	123387870	210	27553											
UNC5D	0	.	GRCh38	chr8	35686710	35686710	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatggtctttgcatcctagGtaacacttttgctttaacat	10	16	7	8	0	1	1	0	0	1	1	2	1	2	1	1	2	4	3	1	2	3	7	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1084+1G>T		p.X362_splice	ENST00000404895		272	246	26	225	224	1	strelka-varscan-mutect	UNC5D,splice_donor_variant,,ENST00000287272,;UNC5D,splice_donor_variant,,ENST00000453357,;UNC5D,splice_donor_variant,,ENST00000416672,;UNC5D,splice_donor_variant,,ENST00000404895,NM_080872.2;UNC5D,splice_donor_variant,,ENST00000420357,;UNC5D,splice_donor_variant,,ENST00000474634,;	T	ENST00000404895	Transcript	splice_donor_variant	-/3252	1084/2862	362/953				1		1	UNC5D	HGNC	HGNC:18634	protein_coding	YES	CCDS6093.2	ENSP00000385143	Q6UXZ4		UPI00001D6915	NM_080872.2				7/16																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	83	35686710	35686710	G	T	1	0	0	0	0	0	0	1	0	17519	1275	44	2		2	UNC5D	8	35686710	Splice_Site	SNP	G	C3N-01823_TP	13935944	35686710	109451926	211	27554											
UNC5D	0	.	GRCh38	chr8	35774472	35774472	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagcacagaaaaacagcatCaacaggtaattggggacagc	17	6	10	8	0	1	1	1	0	0	1	1	2	1	2	0	3	5	3	0	3	5	3	rs764330172		C3N-01823_TP	C3N-01823_NB	C	C																c.2652C>T	p.=	p.I884I	ENST00000404895	16/17	176	147	29	110	110	0	strelka-varscan-mutect	UNC5D,synonymous_variant,p.=,ENST00000287272,;UNC5D,synonymous_variant,p.=,ENST00000453357,;UNC5D,synonymous_variant,p.=,ENST00000416672,;UNC5D,synonymous_variant,p.=,ENST00000404895,NM_080872.2;UNC5D,synonymous_variant,p.=,ENST00000420357,;UNC5D,synonymous_variant,p.=,ENST00000449677,;	T	ENST00000404895	Transcript	synonymous_variant	2980/3252	2652/2862	884/953	I	atC/atT	rs764330172	1		1	UNC5D	HGNC	HGNC:18634	protein_coding	YES	CCDS6093.2	ENSP00000385143	Q6UXZ4		UPI00001D6915	NM_080872.2			16/17		Gene3D:1.10.533.10,Pfam_domain:PF00531,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF5,SMART_domains:SM00005,Superfamily_domains:SSF47986																	LOW	1	SNV	1			1										PASS		rs764330172	.												T	2	4	83	35774472	35774472	C	T	1	0	0	0	0	0	0	0	1	17519	840	29	3		3	UNC5D	8	35774472	Silent	SNP	C	C3N-01823_TP	87762	35774472	109364164	212	27555											
KCNU1	0	.	GRCh38	chr8	36845801	36845801	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttctttcattgtccaGagccttgttttactgttcag	5	20	8	8	0	3	1	2	0	1	1	4	1	4	1	2	1	2	3	2	1	1	8	rs373193777		C3N-01823_TP	C3N-01823_NB	G	G																c.1794-1G>T		p.X598_splice	ENST00000399881		152	126	26	113	112	1	strelka-varscan-mutect	KCNU1,splice_acceptor_variant,,ENST00000399881,NM_001031836.2;KCNU1,splice_acceptor_variant,,ENST00000522372,;	T	ENST00000399881	Transcript	splice_acceptor_variant	-/3695	1794/3450	598/1149			rs373193777	1		1	KCNU1	HGNC	HGNC:18867	protein_coding	YES	CCDS55220.1	ENSP00000382770	A8MYU2		UPI0000F079EF	NM_001031836.2				17/26																		HIGH	1	SNV	2			1										PASS		rs373193777	.												T	5	4	83	36845801	36845801	G	T	1	0	0	0	0	0	0	1	0	8009	956	33	2		2	KCNU1	8	36845801	Splice_Site	SNP	G	C3N-01823_TP	1071329	36845801	108292835	213	27556											
CHRNB3	0	.	GRCh38	chr8	42732033	42732033	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tataccctctttctcatcatCccctgcctggggctgtcttt	4	16	6	15	0	4	0	2	0	3	0	6	0	5	0	4	2	2	1	4	2	2	4	rs201506201		C3N-01823_TP	C3N-01823_NB	C	C																c.726C>A	p.=	p.I242I	ENST00000289957	5/6	259	215	44	175	175	0	strelka-varscan-mutect	CHRNB3,synonymous_variant,p.=,ENST00000289957,NM_000749.3;	A	ENST00000289957	Transcript	synonymous_variant	854/2294	726/1377	242/458	I	atC/atA	rs201506201,COSM336955	1		1	CHRNB3	HGNC	HGNC:1963	protein_coding	YES	CCDS6134.1	ENSP00000289957	Q05901		UPI0000125272	NM_000749.3			5/6		Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF75,hmmpanther:PTHR18945,Gene3D:1.20.120.370,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112											0,1						LOW	1	SNV	1		0,1	1										PASS		rs201506201	.												A	2	1	83	42732033	42732033	C	A	1	0	0	0	0	0	0	0	1	3152	845	30	2		2	CHRNB3	8	42732033	Silent	SNP	C	C3N-01823_TP	5886232	42732033	102406603	214	27557											
THAP1	0	.	GRCh38	chr8	42839283	42839283	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagcagtctggagtaaagTgctctgaacaaatactgcta	15	10	9	7	0	2	1	0	1	2	0	2	2	2	2	0	1	5	4	0	1	8	4	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.170A>T	p.His57Leu	p.H57L	ENST00000254250	2/3	291	243	48	192	192	0	strelka-varscan-mutect	THAP1,missense_variant,p.His57Leu,ENST00000254250,NM_018105.2;THAP1,missense_variant,p.His57Leu,ENST00000529779,;THAP1,intron_variant,,ENST00000345117,NM_199003.1;THAP1,non_coding_transcript_exon_variant,,ENST00000532093,;	A	ENST00000254250	Transcript	missense_variant	401/2161	170/642	57/213	H/L	cAc/cTc		1		-1	THAP1	HGNC	HGNC:20856	protein_coding	YES	CCDS6136.1	ENSP00000254250	Q9NVV9		UPI000007035E	NM_018105.2	deleterious(0)		2/3		Pfam_domain:PF05485,PROSITE_profiles:PS50950,hmmpanther:PTHR23080,hmmpanther:PTHR23080:SF85,SMART_domains:SM00692,SMART_domains:SM00980,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	42839283	42839283	T	A	1	0	0	0	0	1	0	0	0	16273	1696	59	4		4	THAP1	8	42839283	Missense_Mutation	SNP	T	C3N-01823_TP	107250	42839283	102299353	215	27558											
SNTG1	0	.	GRCh38	chr8	50704724	50704724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagagccttccagacagCaacctttctagaagtagaac	15	7	9	10	0	1	4	0	0	1	4	2	5	2	5	3	1	4	2	3	1	6	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1163C>G	p.Ala388Gly	p.A388G	ENST00000522124	16/19	248	216	32	134	134	0	strelka-varscan-mutect	SNTG1,missense_variant,p.Ala388Gly,ENST00000522124,NM_018967.3;SNTG1,missense_variant,p.Ala388Gly,ENST00000518864,NM_001287813.1;SNTG1,missense_variant,p.Ala388Gly,ENST00000517473,NM_001287814.1;SNTG1,3_prime_UTR_variant,,ENST00000520825,;SNTG1,3_prime_UTR_variant,,ENST00000524004,;	G	ENST00000522124	Transcript	missense_variant	1824/3504	1163/1554	388/517	A/G	gCa/gGa		1		1	SNTG1	HGNC	HGNC:13740	protein_coding	YES	CCDS6147.1	ENSP00000429842	Q9NSN8	A0A024R7Y0	UPI000004A0DD	NM_018967.3	deleterious(0)		16/19		Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF2,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	83	50704724	50704724	C	G	1	0	0	0	0	1	0	0	0	15194	710	25	4		4	SNTG1	8	50704724	Missense_Mutation	SNP	C	C3N-01823_TP	7865441	50704724	94433912	216	27559											
OPRK1	0	.	GRCh38	chr8	53234943	53234943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgaagatgctggtgaaCatgttgtagtaatcaatgga	14	11	13	3	0	1	3	1	2	0	1	1	4	1	4	0	3	2	4	0	3	6	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.426G>A	p.Met142Ile	p.M142I	ENST00000265572	3/4	344	306	38	220	220	0	strelka-varscan-mutect	OPRK1,missense_variant,p.Met53Ile,ENST00000612786,NM_001282904.1;OPRK1,missense_variant,p.Met142Ile,ENST00000265572,NM_001318497.1,NM_000912.3;OPRK1,missense_variant,p.Met128Ile,ENST00000613482,;OPRK1,missense_variant,p.Met142Ile,ENST00000520287,;OPRK1,missense_variant,p.Met53Ile,ENST00000524278,;RP11-162D9.3,intron_variant,,ENST00000524425,;OPRK1,3_prime_UTR_variant,,ENST00000522508,;	T	ENST00000265572	Transcript	missense_variant	724/5014	426/1143	142/380	M/I	atG/atA		1		-1	OPRK1	HGNC	HGNC:8154	protein_coding	YES	CCDS6152.1	ENSP00000265572	P41145		UPI000011D794	NM_001318497.1,NM_000912.3	deleterious(0.01)		3/4		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR00384,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF1,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	53234943	53234943	C	T	1	0	0	0	0	1	0	0	0	10961	478	17	3		3	OPRK1	8	53234943	Missense_Mutation	SNP	C	C3N-01823_TP	2530219	53234943	91903693	217	27560											
CHD7	0	.	GRCh38	chr8	60822621	60822621	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagtaattgccccattgTccacaatccccaactgggaa	11	12	6	12	0	0	0	0	0	0	0	2	1	2	1	5	1	2	1	5	1	5	5	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.3076T>C	p.Ser1026Pro	p.S1026P	ENST00000423902	12/38	340	311	29	242	242	0	strelka-varscan-mutect	CHD7,missense_variant,p.Ser1026Pro,ENST00000423902,NM_017780.3;CHD7,missense_variant,p.Ser1026Pro,ENST00000525508,;CHD7,intron_variant,,ENST00000524602,;	C	ENST00000423902	Transcript	missense_variant	3555/11568	3076/8994	1026/2997	S/P	Tcc/Ccc		1		1	CHD7	HGNC	HGNC:20626	protein_coding	YES	CCDS47865.1	ENSP00000392028	Q9P2D1		UPI0000251DA6	NM_017780.3	deleterious(0)		12/38		PROSITE_profiles:PS51192,hmmpanther:PTHR10799:SF658,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	83	60822621	60822621	T	C	1	0	0	0	0	1	0	0	0	3089	1667	58	5		5	CHD7	8	60822621	Missense_Mutation	SNP	T	C3N-01823_TP	7587678	60822621	84316015	218	27561											
KCNB2	0	.	GRCh38	chr8	72937368	72937368	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgctggagtatgccccAgttgacataactgtgaacct	10	9	11	11	1	0	2	0	2	0	0	0	3	0	3	3	2	3	4	3	2	3	3	rs748409049		C3N-01823_TP	C3N-01823_NB	A	A																c.2013A>T	p.=	p.P671P	ENST00000523207	3/3	372	331	41	190	190	0	strelka-varscan-mutect	KCNB2,synonymous_variant,p.=,ENST00000523207,NM_004770.2;	T	ENST00000523207	Transcript	synonymous_variant	2601/3582	2013/2736	671/911	P	ccA/ccT	rs748409049	1		1	KCNB2	HGNC	HGNC:6232	protein_coding	YES	CCDS6209.1	ENSP00000430846	Q92953		UPI000012DC85	NM_004770.2			3/3		Pfam_domain:PF03521																	LOW	1	SNV	1			1										PASS		rs748409049	.												T	2	4	83	72937368	72937368	A	T	1	0	0	0	0	0	0	0	1	7929	175	7	4		4	KCNB2	8	72937368	Silent	SNP	A	C3N-01823_TP	12114747	72937368	72201268	219	27562											
ZBTB10	0	.	GRCh38	chr8	80499607	80499607	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagagaaagaaaggtatTctttgtgatgtcagcattgt	14	12	11	4	0	2	3	1	1	1	2	2	5	2	3	0	1	2	2	0	1	4	4	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.1086T>C	p.=	p.I362I	ENST00000430430	3/7	312	279	33	256	256	0	strelka-varscan-mutect	ZBTB10,synonymous_variant,p.=,ENST00000430430,;ZBTB10,synonymous_variant,p.=,ENST00000426744,NM_023929.4;ZBTB10,synonymous_variant,p.=,ENST00000455036,NM_001105539.2;ZBTB10,synonymous_variant,p.=,ENST00000610895,;ZBTB10,synonymous_variant,p.=,ENST00000379091,NM_001277145.1;	C	ENST00000430430	Transcript	synonymous_variant	1865/10132	1086/2616	362/871	I	atT/atC		1		1	ZBTB10	HGNC	HGNC:30953	protein_coding	YES	CCDS47880.1	ENSP00000387462	Q96DT7		UPI0000E5AEF3				3/7		Gene3D:3.30.710.10,Pfam_domain:PF00651,hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF27,Superfamily_domains:SSF54695																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	83	80499607	80499607	T	C	1	0	0	0	0	0	0	0	1	18089	1771	62	5		5	ZBTB10	8	80499607	Silent	SNP	T	C3N-01823_TP	7562239	80499607	64639029	220	27563											
CNGB3	0	.	GRCh38	chr8	86670952	86670952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaatgcttaccagtttgtGggctggcttcgggtgaggag	7	11	16	7	1	0	1	0	1	0	0	1	2	0	2	1	4	3	5	1	4	2	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.485C>A	p.Pro162Gln	p.P162Q	ENST00000320005	4/18	457	411	46	302	302	0	strelka-varscan-mutect	CNGB3,missense_variant,p.Pro162Gln,ENST00000320005,NM_019098.4;	T	ENST00000320005	Transcript	missense_variant	533/4347	485/2430	162/809	P/Q	cCa/cAa		1		-1	CNGB3	HGNC	HGNC:2153	protein_coding	YES	CCDS6244.1	ENSP00000316605	Q9NQW8		UPI000014076F	NM_019098.4	deleterious(0)		4/18		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF385																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	86670952	86670952	G	T	1	0	0	0	0	1	0	0	0	3381	1348	47	2		2	CNGB3	8	86670952	Missense_Mutation	SNP	G	C3N-01823_TP	6171345	86670952	58467684	221	27564											
CSMD3	0	.	GRCh38	chr8	112292692	112292692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccataaattggactaccaGggtgaccacagctaacagct	13	9	8	11	0	0	1	0	1	0	0	1	2	1	2	3	2	4	2	3	2	4	5	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.8633C>T	p.Pro2878Leu	p.P2878L	ENST00000297405	55/71	501	444	57	346	346	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Pro2878Leu,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Pro2838Leu,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Pro2709Leu,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Pro2148Leu,ENST00000339701,;	A	ENST00000297405	Transcript	missense_variant	8878/13212	8633/11124	2878/3707	P/L	cCt/cTt		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		55/71		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF44,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	112292692	112292692	G	A	1	0	0	0	0	1	0	0	0	3747	1000	35	3		3	CSMD3	8	112292692	Missense_Mutation	SNP	G	C3N-01823_TP	25621740	112292692	32845944	222	27565											
CSMD3	0	.	GRCh38	chr8	112656335	112656335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcataattcagttcagtCtgaaatctaagattaaaaga	18	12	5	6	0	5	3	3	1	2	2	5	3	5	3	0	0	0	1	0	0	5	5	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.2823G>T	p.Gln941His	p.Q941H	ENST00000297405	18/71	210	186	24	163	163	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Gln941His,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Gln901His,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Gln837His,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Gln281His,ENST00000339701,;	A	ENST00000297405	Transcript	missense_variant	3068/13212	2823/11124	941/3707	Q/H	caG/caT		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		18/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	112656335	112656335	C	A	1	0	0	0	0	1	0	0	0	3747	912	32	2		2	CSMD3	8	112656335	Missense_Mutation	SNP	C	C3N-01823_TP	363643	112656335	32482301	223	27566											
CSMD3	0	.	GRCh38	chr8	112690013	112690013	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttctctaattccatataaGggtgtaccaggatcaccaca	12	11	6	12	0	2	0	1	0	1	0	4	1	3	1	4	2	1	1	4	2	4	6	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2010C>A	p.=	p.P670P	ENST00000297405	14/71	280	258	22	263	262	1	strelka-varscan-mutect	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000455883,NM_052900.2;CSMD3,synonymous_variant,p.=,ENST00000339701,;	T	ENST00000297405	Transcript	synonymous_variant	2255/13212	2010/11124	670/3707	P	ccC/ccA		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			14/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	112690013	112690013	G	T	1	0	0	0	0	0	0	0	1	3747	987	35	2		2	CSMD3	8	112690013	Silent	SNP	G	C3N-01823_TP	33678	112690013	32448623	224	27567											
CSMD3	0	.	GRCh38	chr8	112921648	112921648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttacacacaggcctgtgatCactccaagcagcaaaaactt	14	9	6	12	0	1	1	1	1	0	0	2	1	2	1	2	1	4	2	2	1	4	3			C3N-01823_TP	C3N-01823_NB	C	C																c.1612G>A	p.Asp538Asn	p.D538N	ENST00000297405	10/71	482	455	27	372	372	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Asp538Asn,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Asp498Asn,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Asp434Asn,ENST00000455883,NM_052900.2;	T	ENST00000297405	Transcript	missense_variant	1857/13212	1612/11124	538/3707	D/N	Gat/Aat	COSM3644374,COSM3644375	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0.01)		10/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	83	112921648	112921648	C	T	1	0	0	0	0	1	0	0	0	3747	826	29	3		3	CSMD3	8	112921648	Missense_Mutation	SNP	C	C3N-01823_TP	231635	112921648	32216988	225	27568											
ZHX2	0	.	GRCh38	chr8	122952886	122952886	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctcaaggccagctttcTccagagccagttccctgacg	9	9	8	15	1	2	2	1	1	2	1	5	2	3	2	4	1	2	2	4	1	1	2	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.1376T>A	p.Leu459His	p.L459H	ENST00000314393	3/4	495	428	67	367	367	0	strelka-varscan-mutect	ZHX2,missense_variant,p.Leu459His,ENST00000314393,NM_014943.3;ZHX2,downstream_gene_variant,,ENST00000534247,;	A	ENST00000314393	Transcript	missense_variant	2211/4624	1376/2514	459/837	L/H	cTc/cAc		1		1	ZHX2	HGNC	HGNC:18513	protein_coding	YES	CCDS6336.1	ENSP00000314709	Q9Y6X8		UPI0000073CCB	NM_014943.3	deleterious(0.01)		3/4		PROSITE_profiles:PS50071,hmmpanther:PTHR15467,hmmpanther:PTHR15467:SF5,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	122952886	122952886	T	A	1	0	0	0	0	1	0	0	0	18255	1551	54	4		4	ZHX2	8	122952886	Missense_Mutation	SNP	T	C3N-01823_TP	10031238	122952886	22185750	226	27569											
ZHX2	0	.	GRCh38	chr8	122952988	122952988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcagtgaccaccgatatcGgtgtcaaaggggcatcgtcc	9	9	12	11	3	2	1	2	1	0	0	5	2	3	1	3	3	0	2	3	3	2	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1478G>T	p.Arg493Leu	p.R493L	ENST00000314393	3/4	381	327	54	255	255	0	strelka-varscan-mutect	ZHX2,missense_variant,p.Arg493Leu,ENST00000314393,NM_014943.3;ZHX2,downstream_gene_variant,,ENST00000534247,;	T	ENST00000314393	Transcript	missense_variant	2313/4624	1478/2514	493/837	R/L	cGg/cTg		1		1	ZHX2	HGNC	HGNC:18513	protein_coding	YES	CCDS6336.1	ENSP00000314709	Q9Y6X8		UPI0000073CCB	NM_014943.3	tolerated(0.16)		3/4		PROSITE_profiles:PS50071,hmmpanther:PTHR15467,hmmpanther:PTHR15467:SF5,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	122952988	122952988	G	T	1	0	0	0	0	1	0	0	0	18255	1116	39	1		1	ZHX2	8	122952988	Missense_Mutation	SNP	G	C3N-01823_TP	102	122952988	22185648	227	27570											
KCNQ3	0	.	GRCh38	chr8	132129649	132129649	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagataggcaggaccgtgggCctctccacatacgttgttgc	9	9	12	11	2	1	1	0	0	1	1	2	2	1	2	3	3	2	3	3	3	3	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.2232G>T	p.Arg744Ser	p.R744S	ENST00000388996	15/15	396	351	45	232	232	0	strelka-varscan-mutect	KCNQ3,missense_variant,p.Arg744Ser,ENST00000388996,NM_004519.3;KCNQ3,missense_variant,p.Arg623Ser,ENST00000621976,;KCNQ3,missense_variant,p.Arg732Ser,ENST00000519445,;KCNQ3,missense_variant,p.Arg624Ser,ENST00000521134,NM_001204824.1;KCNQ3,non_coding_transcript_exon_variant,,ENST00000519589,;	A	ENST00000388996	Transcript	missense_variant	2653/11441	2232/2619	744/872	R/S	agG/agT		1		-1	KCNQ3	HGNC	HGNC:6297	protein_coding	YES	CCDS34943.1	ENSP00000373648	O43525		UPI00001279F0	NM_004519.3	tolerated(0.12)		15/15		Prints_domain:PR01462																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	132129649	132129649	C	A	1	0	0	0	0	1	0	0	0	8000	738	26	2		2	KCNQ3	8	132129649	Missense_Mutation	SNP	C	C3N-01823_TP	9176661	132129649	13008987	228	27571											
TG	0	.	GRCh38	chr8	132941414	132941414	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtttccaaaacatgctttCtggattgtacaaccccattg	10	14	7	10	0	1	0	0	0	1	0	2	1	2	1	3	2	4	3	3	2	4	5	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.5105C>G	p.Ser1702Cys	p.S1702C	ENST00000220616	26/48	550	496	54	362	362	0	strelka-varscan-mutect	TG,missense_variant,p.Ser1702Cys,ENST00000220616,NM_003235.4;TG,intron_variant,,ENST00000519178,;TG,3_prime_UTR_variant,,ENST00000523756,;	G	ENST00000220616	Transcript	missense_variant	5145/8450	5105/8307	1702/2768	S/C	tCt/tGt		1		1	TG	HGNC	HGNC:11764	protein_coding	YES	CCDS34944.1	ENSP00000220616	P01266		UPI000013C79F	NM_003235.4	deleterious(0)		26/48		PIRSF_domain:PIRSF001831																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	83	132941414	132941414	C	G	1	0	0	0	0	1	0	0	0	16246	913	32	4		4	TG	8	132941414	Missense_Mutation	SNP	C	C3N-01823_TP	811765	132941414	12197222	229	27572											
FAM135B	0	.	GRCh38	chr8	138152172	138152172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggagcagatacagacttgGttaacttagtgagtgccacc	11	9	13	8	0	0	3	0	1	0	2	0	4	0	4	2	3	4	2	2	3	3	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2303C>A	p.Thr768Asn	p.T768N	ENST00000395297	13/20	179	149	30	106	105	1	strelka-varscan-mutect	FAM135B,missense_variant,p.Thr768Asn,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Thr768Asn,ENST00000276737,;FAM135B,missense_variant,p.Thr78Asn,ENST00000467365,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000395295,;	T	ENST00000395297	Transcript	missense_variant	2474/6962	2303/4221	768/1406	T/N	aCc/aAc		1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	deleterious(0)		13/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482																	MODERATE	1	SNV	5			1										PASS		rs933172942	.												T	3	4	83	138152172	138152172	G	T	1	0	0	0	0	1	0	0	0	5299	1261	44	2		2	FAM135B	8	138152172	Missense_Mutation	SNP	G	C3N-01823_TP	5210758	138152172	6986464	230	27573											
COL22A1	0	.	GRCh38	chr8	138679659	138679659	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagttttctgaccctctGacttttccgcaagcagcctg	7	12	8	14	1	2	2	0	2	2	0	3	2	3	2	3	0	2	4	3	0	1	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.3030C>A	p.=	p.V1010V	ENST00000303045	40/65	345	307	38	297	297	0	strelka-varscan-mutect	COL22A1,synonymous_variant,p.=,ENST00000303045,NM_152888.2;COL22A1,intron_variant,,ENST00000435777,;COL22A1,intron_variant,,ENST00000341807,;	T	ENST00000303045	Transcript	synonymous_variant	3477/6346	3030/4881	1010/1626	V	gtC/gtA		1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2			40/65		hmmpanther:PTHR24023																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	138679659	138679659	G	T	1	0	0	0	0	0	0	0	1	3469	1277	45	2		2	COL22A1	8	138679659	Silent	SNP	G	C3N-01823_TP	527487	138679659	6458977	231	27574											
COL22A1	0	.	GRCh38	chr8	138802889	138802889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccacatcacctttctctcCcttaggtccaggagcgccaa	9	9	6	17	1	2	0	1	0	1	0	5	1	4	1	5	2	1	0	5	2	2	2			C3N-01823_TP	C3N-01823_NB	C	C																c.1540G>A	p.Gly514Arg	p.G514R	ENST00000303045	11/65	365	329	36	228	228	0	strelka-varscan-mutect	COL22A1,missense_variant,p.Gly514Arg,ENST00000303045,NM_152888.2;COL22A1,intron_variant,,ENST00000435777,;	T	ENST00000303045	Transcript	missense_variant	1987/6346	1540/4881	514/1626	G/R	Gga/Aga	COSM4598793,COSM604278	1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1		UPI00001C1EA1	NM_152888.2	deleterious(0)		11/65		Low_complexity_(Seg):seg,hmmpanther:PTHR24023											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	83	138802889	138802889	C	T	1	0	0	0	0	1	0	0	0	3469	632	22	3		3	COL22A1	8	138802889	Missense_Mutation	SNP	C	C3N-01823_TP	123230	138802889	6335747	232	27575											
TRAPPC9	0	.	GRCh38	chr8	140221540	140221540	+	Frame_Shift_Del	DEL	C	C	-																															actcggggccgaacgacctgCcgaaaaggactggacagggg																								rs756688439		C3N-01823_TP	C3N-01823_NB	C	C																c.2769delG	p.Gln924ArgfsTer12	p.Q924Rfs*12	ENST00000389328	17/23	596	545	51	396	396	0	varindel-pindel	TRAPPC9,frameshift_variant,p.Gln924ArgfsTer12,ENST00000389328,NM_031466.6;TRAPPC9,frameshift_variant,p.Gln826ArgfsTer12,ENST00000438773,NM_001160372.2;TRAPPC9,frameshift_variant,p.Gln670ArgfsTer12,ENST00000520857,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000521667,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000520532,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000518839,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000517667,;	-	ENST00000389328	Transcript	frameshift_variant	2784/4474	2769/3741	923/1246	R/X	cgG/cg	rs756688439	1		-1	TRAPPC9	HGNC	HGNC:30832	protein_coding	YES	CCDS34946.1	ENSP00000373979	Q96Q05		UPI0000DBEF2B	NM_031466.6			17/23		hmmpanther:PTHR21512,hmmpanther:PTHR21512:SF5																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	83	140221540	140221540	C	-	1	0	1	0	1	0	0	0	0	16954	726	26	0		0	TRAPPC9	8	140221540	Frame_Shift_Del	DEL	C	C3N-01823_TP	1418651	140221540	4917096	233	27576											
CCDC166	0	.	GRCh38	chr8	143707029	143707029	+	Missense_Mutation	SNP	G	G	T																															ggggacccgggaagcctcgcGcgacgggaccacggacgagg																								novel		C3N-01823_TP	C3N-01823_NB	G	G																c.985C>A	p.Arg329Ser	p.R329S	ENST00000542437	2/2	232	213	19	147	147	0	strelka-varscan-mutect	CCDC166,missense_variant,p.Arg329Ser,ENST00000542437,NM_001162914.1;RP11-429J17.4,downstream_gene_variant,,ENST00000527579,;ZNF707,intron_variant,,ENST00000527561,;ZNF707,upstream_gene_variant,,ENST00000508587,;	T	ENST00000542437	Transcript	missense_variant	985/1320	985/1320	329/439	R/S	Cgc/Agc		1		-1	CCDC166	HGNC	HGNC:41910	protein_coding	YES	CCDS55280.1	ENSP00000437468	P0CW27		UPI00016623E2	NM_001162914.1	deleterious(0.01)		2/2		hmmpanther:PTHR14845,hmmpanther:PTHR14845:SF4																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	83	143707029	143707029	G	T	1	0	0	0	0	1	0	0	0	2482	1087	38	1		1	CCDC166	8	143707029	Missense_Mutation	SNP	G	C3N-01823_TP	3485489	143707029	1431607	234	27577	581	2									
CCDC166	0	.	GRCh38	chr8	143707030	143707030	+	Silent	SNP	C	C	T																															gggacccgggaagcctcgcgCgacgggaccacggacgaggc																								novel		C3N-01823_TP	C3N-01823_NB	C	C																c.984G>A	p.=	p.S328S	ENST00000542437	2/2	230	213	17	145	145	0	strelka-varscan-mutect	CCDC166,synonymous_variant,p.=,ENST00000542437,NM_001162914.1;RP11-429J17.4,downstream_gene_variant,,ENST00000527579,;ZNF707,intron_variant,,ENST00000527561,;ZNF707,upstream_gene_variant,,ENST00000508587,;	T	ENST00000542437	Transcript	synonymous_variant	984/1320	984/1320	328/439	S	tcG/tcA		1		-1	CCDC166	HGNC	HGNC:41910	protein_coding	YES	CCDS55280.1	ENSP00000437468	P0CW27		UPI00016623E2	NM_001162914.1			2/2		hmmpanther:PTHR14845,hmmpanther:PTHR14845:SF4																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	83	143707030	143707030	C	T	1	0	0	0	0	0	0	0	1	2482	755	27	1		1	CCDC166	8	143707030	Silent	SNP	C	C3N-01823_TP	1	143707030	1431606	235	27578	581	2									
SMARCA2	0	.	GRCh38	chr9	2159862	2159862	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggcttgttaattttaTccccactaactgtgatttct	7	19	6	9	0	1	1	0	1	1	0	2	1	2	1	2	1	2	3	2	1	3	7	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.52T>G	p.Ser18Ala	p.S18A	ENST00000302401	2/8	354	300	54	244	244	0	strelka-varscan-mutect	SMARCA2,missense_variant,p.Ser18Ala,ENST00000302401,NM_001289400.1;SMARCA2,missense_variant,p.Ser16Ala,ENST00000382185,NM_001289399.1;SMARCA2,missense_variant,p.Ser16Ala,ENST00000417599,;SMARCA2,missense_variant,p.Ser16Ala,ENST00000423555,;SMARCA2,missense_variant,p.Ser32Ala,ENST00000634343,;SMARCA2,missense_variant,p.Ser16Ala,ENST00000635133,;SMARCA2,missense_variant,p.Ser16Ala,ENST00000634435,;SMARCA2,missense_variant,p.Ser16Ala,ENST00000634338,;SMARCA2,missense_variant,p.Ser16Ala,ENST00000635530,;SMARCA2,intron_variant,,ENST00000382203,NM_001289396.1;SMARCA2,intron_variant,,ENST00000357248,NM_139045.3;SMARCA2,intron_variant,,ENST00000349721,NM_003070.4;SMARCA2,intron_variant,,ENST00000382194,;SMARCA2,intron_variant,,ENST00000450198,NM_001289397.1;SMARCA2,intron_variant,,ENST00000324954,NM_001289398.1;SMARCA2,intron_variant,,ENST00000382183,;SMARCA2,intron_variant,,ENST00000382186,;SMARCA2,intron_variant,,ENST00000634931,;SMARCA2,intron_variant,,ENST00000634772,;SMARCA2,intron_variant,,ENST00000452193,;SMARCA2,intron_variant,,ENST00000635388,;SMARCA2,intron_variant,,ENST00000634706,;SMARCA2,intron_variant,,ENST00000635688,;SMARCA2,upstream_gene_variant,,ENST00000634781,;SMARCA2,upstream_gene_variant,,ENST00000634688,;SMARCA2,upstream_gene_variant,,ENST00000416751,;RNU2-25P,downstream_gene_variant,,ENST00000411041,;SMARCA2,intron_variant,,ENST00000635739,;SMARCA2,intron_variant,,ENST00000636157,;SMARCA2,intron_variant,,ENST00000638139,;SMARCA2,intron_variant,,ENST00000634925,;SMARCA2,intron_variant,,ENST00000637856,;SMARCA2,upstream_gene_variant,,ENST00000635397,;SMARCA2,missense_variant,p.Ser16Ala,ENST00000636367,;SMARCA2,missense_variant,p.Ser16Ala,ENST00000635590,;SMARCA2,missense_variant,p.Ser16Ala,ENST00000634989,;SMARCA2,missense_variant,p.Ser29Ala,ENST00000635659,;SMARCA2,intron_variant,,ENST00000634760,;	G	ENST00000302401	Transcript	missense_variant	572/2242	52/837	18/278	S/A	Tcc/Gcc		1		1	SMARCA2	HGNC	HGNC:11098	protein_coding		CCDS75808.1	ENSP00000305411		B1ALF6	UPI0000211086	NM_001289400.1	tolerated_low_confidence(0.2)		2/8		Cleavage_site_(Signalp):SignalP-noTM																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	83	2159862	2159862	T	G	1	0	0	0	0	1	0	0	0	15062	1435	50	5		5	SMARCA2	9	2159862	Missense_Mutation	SNP	T	C3N-01823_TP		2159862	136234855	236	27579											
CDKN2A	0	.	GRCh38	chr9	21971159	21971159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcgcagttgggctccgcgCcgtggagcagcagcagctcc	5	5	16	15	5	0	0	0	0	0	0	2	1	2	1	3	3	4	7	3	3	0	1	rs863224605		C3N-01823_TP	C3N-01823_NB	C	C																c.200G>T	p.Gly67Val	p.G67V	ENST00000498124	2/4	325	260	65	291	291	0	strelka-varscan-mutect	CDKN2A,missense_variant,p.Gly67Val,ENST00000304494,NM_000077.4;CDKN2A,missense_variant,p.Gly16Val,ENST00000494262,;CDKN2A,missense_variant,p.Gly16Val,ENST00000498628,;CDKN2A,missense_variant,p.Gly67Val,ENST00000498124,NM_001195132.1;CDKN2A,missense_variant,p.Gly16Val,ENST00000578845,;CDKN2A,missense_variant,p.Gly67Val,ENST00000579122,;CDKN2A,missense_variant,p.Gly16Val,ENST00000497750,;CDKN2A,missense_variant,p.Gly16Val,ENST00000479692,;CDKN2A,synonymous_variant,p.=,ENST00000579755,NM_058195.3;CDKN2A,synonymous_variant,p.=,ENST00000530628,;CDKN2A-AS1,downstream_gene_variant,,ENST00000441769,;CDKN2A,non_coding_transcript_exon_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,3_prime_UTR_variant,,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;	A	ENST00000498124	Transcript	missense_variant	239/880	200/504	67/167	G/V	gGc/gTc	rs863224605,COSM1107900,COSM1107901,COSM1107902,COSM13280,COSM3092318,COSM3092319,COSM3092320	1		-1	CDKN2A	HGNC	HGNC:1787	protein_coding	YES	CCDS56565.1	ENSP00000418915	P42771		UPI0001565711	NM_001195132.1	deleterious(0)		2/4		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR24148,hmmpanther:PTHR24148:SF38,Superfamily_domains:SSF48403										uncertain_significance	0,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs863224605	.												A	3	1	83	21971159	21971159	C	A	1	0	0	0	0	1	0	0	0	2865	739	26	2		2	CDKN2A	9	21971159	Missense_Mutation	SNP	C	C3N-01823_TP	19811297	21971159	116423558	237	27580											
SPINK4	0	.	GRCh38	chr9	33221072	33221072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgcttcgcacacagacCgtcttccagaggcaggggca	9	6	14	12	2	1	2	0	0	1	2	3	3	2	3	2	4	1	4	2	4	0	2	rs755217720		C3N-01823_TP	C3N-01823_NB	C	C																c.94C>A	p.Arg32Ser	p.R32S	ENST00000379725	2/5	310	270	40	161	161	0	strelka-varscan-mutect	SPINK4,missense_variant,p.Arg32Ser,ENST00000379725,;	A	ENST00000379725	Transcript	missense_variant	216/533	94/330	32/109	R/S	Cgt/Agt	rs755217720	1		1	SPINK4	HGNC	HGNC:16646	protein_coding			ENSP00000369048		Q5VZE7	UPI000021126F		deleterious_low_confidence(0)		2/5		hmmpanther:PTHR21179																	MODERATE	1	SNV	3			1										PASS		rs755217720	.												A	3	1	83	33221072	33221072	C	A	1	0	0	0	0	1	0	0	0	15414	652	23	1		1	SPINK4	9	33221072	Missense_Mutation	SNP	C	C3N-01823_TP	11249913	33221072	105173645	238	27581											
PAX5	0	.	GRCh38	chr9	36846856	36846857	+	Frame_Shift_Ins	INS	-	-	T																															actcaccaagcagccccgggINSttggggaacctccaggagtc																								novel		C3N-01823_TP	C3N-01823_NB	-	-																c.1085dupA	p.Asn362LysfsTer12	p.N362Kfs*12	ENST00000358127	9/10	132	115	17	112	112	0	sindel-varindel-pindel	PAX5,frameshift_variant,p.Asn362LysfsTer12,ENST00000358127,NM_016734.2;PAX5,frameshift_variant,p.Asn328LysfsTer12,ENST00000377852,NM_001280547.1;PAX5,frameshift_variant,p.Thr285AsnfsTer31,ENST00000523241,NM_001280549.1;PAX5,frameshift_variant,p.Asn319LysfsTer12,ENST00000414447,NM_001280554.1;PAX5,frameshift_variant,p.Asn254LysfsTer12,ENST00000522003,NM_001280556.1;PAX5,frameshift_variant,p.Asn262LysfsTer12,ENST00000446742,NM_001280555.1;PAX5,frameshift_variant,p.Asn189LysfsTer12,ENST00000524340,;PAX5,intron_variant,,ENST00000377853,NM_001280548.1;PAX5,intron_variant,,ENST00000520154,NM_001280550.1;PAX5,intron_variant,,ENST00000377847,NM_001280552.1;PAX5,intron_variant,,ENST00000520281,NM_001280553.1;PAX5,intron_variant,,ENST00000523145,NM_001280551.1;PAX5,intron_variant,,ENST00000522932,;PAX5,3_prime_UTR_variant,,ENST00000377840,;PAX5,3_prime_UTR_variant,,ENST00000523493,;	T	ENST00000358127	Transcript	frameshift_variant	1239-1240/8615	1085-1086/1176	362/391	N/KX	aac/aaAc		1		-1	PAX5	HGNC	HGNC:8619	protein_coding	YES	CCDS6607.1	ENSP00000350844	Q02548		UPI000013136C	NM_016734.2			9/10		Pfam_domain:PF12403																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	83	36846856	36846856	-	T	1	0	1	1	0	0	0	0	0	11567	1261	44	0		0	PAX5	9	36846856	Frame_Shift_Ins	INS	-	C3N-01823_TP	3625784	36846856	101547861	239	27582											
SPATA31A3	0	.	GRCh38	chr9	66989995	66989995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcattgggcctggtgatgggGtggaggccagatcctgagga	7	9	18	7	0	1	3	1	2	0	1	2	5	2	5	3	7	0	0	3	7	0	1	rs200010477		C3N-01823_TP	C3N-01823_NB	G	G																c.503C>A	p.Thr168Asn	p.T168N	ENST00000428649	4/4	484	433	51	346	346	0	varscan-mutect	SPATA31A3,missense_variant,p.Thr168Asn,ENST00000428649,NM_001083124.1;RP11-395E19.2,downstream_gene_variant,,ENST00000616253,;	T	ENST00000428649	Transcript	missense_variant	565/4256	503/4044	168/1347	T/N	aCc/aAc	rs200010477	1		-1	SPATA31A3	HGNC	HGNC:32003	protein_coding	YES	CCDS78400.1	ENSP00000485118	Q5VYP0		UPI00004588FC	NM_001083124.1	tolerated(0.11)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		rs273319	.												T	3	4	83	66989995	66989995	G	T	1	0	0	0	0	1	0	0	0	15344	1261	44	2		2	SPATA31A3	9	66989995	Missense_Mutation	SNP	G	C3N-01823_TP	30143139	66989995	71404722	240	27583											
PGM5	0	.	GRCh38	chr9	68392359	68392359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaatggcttctttgtgaGcccttctgactccctggcca	7	12	8	14	0	2	2	0	2	2	0	3	2	3	2	4	2	1	1	4	2	2	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.929G>T	p.Ser310Ile	p.S310I	ENST00000396396	6/11	358	328	30	224	224	0	varscan-mutect	PGM5,missense_variant,p.Ser310Ile,ENST00000396396,NM_021965.3;PGM5,missense_variant,p.Ser310Ile,ENST00000396392,;PGM5,downstream_gene_variant,,ENST00000431583,;RP11-88I18.2,downstream_gene_variant,,ENST00000590767,;RP11-88I18.2,downstream_gene_variant,,ENST00000629161,;RP11-88I18.2,downstream_gene_variant,,ENST00000629181,;PGM5,non_coding_transcript_exon_variant,,ENST00000604870,;PGM5,upstream_gene_variant,,ENST00000587852,;	T	ENST00000396396	Transcript	missense_variant	1158/3338	929/1704	310/567	S/I	aGc/aTc		1		1	PGM5	HGNC	HGNC:8908	protein_coding	YES	CCDS6622.2	ENSP00000379678	Q15124		UPI0000210ABF	NM_021965.3	deleterious(0)		6/11		Gene3D:3.40.120.10,hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF27,Superfamily_domains:SSF53738																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	83	68392359	68392359	G	T	1	0	0	0	0	1	0	0	0	11890	971	34	2		2	PGM5	9	68392359	Missense_Mutation	SNP	G	C3N-01823_TP	1402364	68392359	70002358	241	27584											
TRPM6	0	.	GRCh38	chr9	74762015	74762015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttttaatcttacagatCttcatcaatttctcctcctt	9	20	1	11	0	5	1	2	0	3	1	7	1	6	1	2	0	2	0	2	0	4	7	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.4656G>T	p.Lys1552Asn	p.K1552N	ENST00000360774	26/39	335	317	18	237	237	0	strelka-varscan-mutect	TRPM6,missense_variant,p.Lys1552Asn,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Lys1547Asn,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Lys1547Asn,ENST00000449912,NM_001177310.1;	A	ENST00000360774	Transcript	missense_variant	4894/8425	4656/6069	1552/2022	K/N	aaG/aaT		1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4	tolerated_low_confidence(0.05)		26/39		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	74762015	74762015	C	A	1	0	0	0	0	1	0	0	0	17096	912	32	2		2	TRPM6	9	74762015	Missense_Mutation	SNP	C	C3N-01823_TP	6369656	74762015	63632702	242	27585											
MFSD14B	0	.	GRCh38	chr9	94441010	94441010	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgcgatgatttctgtgTctggagtcttctcggtcacg	5	17	11	8	3	5	1	1	1	4	0	6	3	5	2	0	2	1	0	0	2	0	4	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.421T>C	p.Ser141Pro	p.S141P	ENST00000375344	5/12	108	100	8	96	96	0	strelka-varscan-mutect	MFSD14B,missense_variant,p.Ser141Pro,ENST00000375344,NM_032558.2;	C	ENST00000375344	Transcript	missense_variant	690/3420	421/1521	141/506	S/P	Tct/Cct		1		1	MFSD14B	HGNC	HGNC:23376	protein_coding	YES	CCDS6710.2	ENSP00000364493	Q5SR56		UPI000046FF5D	NM_032558.2	deleterious(0)		5/12		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR23504:SF32,hmmpanther:PTHR23504,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473,Prints_domain:PR01035																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	94441010	94441010	T	C	1	0	0	0	0	1	0	0	0	9485	1667	58	5		5	MFSD14B	9	94441010	Missense_Mutation	SNP	T	C3N-01823_TP	19678995	94441010	43953707	243	27586											
PALM2	0	.	GRCh38	chr9	109942853	109942853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcaggaggcaccgtagtaGaaaatggagtgcacaaatta	15	7	12	7	1	1	1	1	0	0	1	1	3	1	3	1	3	1	5	1	3	6	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.664G>A	p.Glu222Lys	p.E222K	ENST00000314527	7/7	197	178	19	123	122	1	strelka-varscan-mutect	PALM2,missense_variant,p.Glu190Lys,ENST00000374531,NM_001037293.2;PALM2,missense_variant,p.Glu188Lys,ENST00000483909,;PALM2-AKAP2,missense_variant,p.Glu222Lys,ENST00000413420,;PALM2,missense_variant,p.Glu222Lys,ENST00000314527,NM_053016.5;PALM2-AKAP2,intron_variant,,ENST00000374530,NM_007203.4;PALM2-AKAP2,intron_variant,,ENST00000302798,NM_147150.2;PALM2,downstream_gene_variant,,ENST00000497711,;	A	ENST00000314527	Transcript	missense_variant	714/1332	664/1236	222/411	E/K	Gaa/Aaa		1		1	PALM2	HGNC	HGNC:15845	protein_coding	YES	CCDS48002.2	ENSP00000323805	Q8IXS6		UPI0000071924	NM_053016.5	deleterious(0)		7/7		Pfam_domain:PF03285,hmmpanther:PTHR10498																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	109942853	109942853	G	A	1	0	0	0	0	1	0	0	0	11489	943	33	3		3	PALM2	9	109942853	Missense_Mutation	SNP	G	C3N-01823_TP	15501843	109942853	28451864	244	27587											
COL27A1	0	.	GRCh38	chr9	114301697	114301697	+	Frame_Shift_Del	DEL	A	A	-																															cccagggtcctcccggccccAgagggcggcccggccccccg																								novel		C3N-01823_TP	C3N-01823_NB	A	A																c.4825delA	p.Arg1609GlufsTer141	p.R1609Efs*141	ENST00000356083	55/61	78	64	14	57	57	0	sindel-varindel-pindel	COL27A1,frameshift_variant,p.Arg1609GlufsTer141,ENST00000356083,NM_032888.3;COL27A1,upstream_gene_variant,,ENST00000490831,;COL27A1,downstream_gene_variant,,ENST00000494780,;COL27A1,3_prime_UTR_variant,,ENST00000494090,;	-	ENST00000356083	Transcript	frameshift_variant	5216/7790	4825/5583	1609/1860	R/X	Aga/ga		1		1	COL27A1	HGNC	HGNC:22986	protein_coding	YES	CCDS6802.1	ENSP00000348385	Q8IZC6		UPI0000062271	NM_032888.3			55/61		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF549,Low_complexity_(Seg):seg																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	83	114301697	114301697	A	-	1	0	1	0	1	0	0	0	0	3474	180	7	0		0	COL27A1	9	114301697	Frame_Shift_Del	DEL	A	C3N-01823_TP	4358844	114301697	24093020	245	27588											
PHF19	0	.	GRCh38	chr9	120862683	120862683	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagcttccctggcgggttGggtgggacgcggatgcgcag	5	7	19	10	4	0	0	0	0	0	0	1	2	1	2	1	5	3	4	1	5	0	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1092C>T	p.=	p.P364P	ENST00000616568	11/15	364	300	64	256	256	0	strelka-varscan-mutect	PHF19,synonymous_variant,p.=,ENST00000373896,NM_015651.2;PHF19,synonymous_variant,p.=,ENST00000616568,NM_001286840.1;PHF19,synonymous_variant,p.=,ENST00000419155,NM_001286842.1;PHF19,synonymous_variant,p.=,ENST00000453868,;PHF19,downstream_gene_variant,,ENST00000439674,;PHF19,non_coding_transcript_exon_variant,,ENST00000487555,;PHF19,non_coding_transcript_exon_variant,,ENST00000467266,;PHF19,upstream_gene_variant,,ENST00000462229,;PHF19,non_coding_transcript_exon_variant,,ENST00000464712,;PHF19,downstream_gene_variant,,ENST00000474402,;PHF19,downstream_gene_variant,,ENST00000478371,;	A	ENST00000616568	Transcript	synonymous_variant	1159/4159	1092/1800	364/599	P	ccC/ccT		1		-1	PHF19	HGNC	HGNC:24566	protein_coding	YES	CCDS75889.1	ENSP00000483946		A0A087X169	UPI000387B942	NM_001286840.1			11/15		Low_complexity_(Seg):seg,hmmpanther:PTHR12628:SF6,hmmpanther:PTHR12628																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	83	120862683	120862683	G	A	1	0	0	0	0	0	0	0	1	11915	1335	47	3		3	PHF19	9	120862683	Silent	SNP	G	C3N-01823_TP	6560986	120862683	17532034	246	27589											
OR1L1	0	.	GRCh38	chr9	122661814	122661814	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgctgtgttcctcccCatctaccttatcacagtgat	6	16	5	14	0	3	1	1	1	2	0	5	1	5	1	4	0	2	2	4	0	2	4	rs377748271		C3N-01823_TP	C3N-01823_NB	C	C																c.99C>T	p.=	p.P33P	ENST00000309623	1/1	311	279	32	188	188	0	strelka-varscan-mutect	OR1L1,synonymous_variant,p.=,ENST00000373686,;OR1L1,synonymous_variant,p.=,ENST00000309623,NM_001005236.3;	T	ENST00000309623	Transcript	synonymous_variant	99/933	99/933	33/310	P	ccC/ccT	rs377748271,COSM3654041	1		1	OR1L1	HGNC	HGNC:8213	protein_coding	YES	CCDS35127.2	ENSP00000310773		A0A0B4J1S0	UPI0000041E03	NM_001005236.3			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF39,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						LOW	1	SNV			0,1	1										PASS		rs377748271	.												T	2	4	83	122661814	122661814	C	T	1	0	0	0	0	0	0	0	1	11041	581	21	3		3	OR1L1	9	122661814	Silent	SNP	C	C3N-01823_TP	1799131	122661814	15732903	247	27590											
GAPVD1	0	.	GRCh38	chr9	125350844	125350844	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataataggacttgtaggaaaCtgctggcttcgattgctgag	11	12	12	6	1	0	1	0	1	0	0	1	4	0	3	0	3	3	4	0	3	4	6	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.3622C>G	p.Leu1208Val	p.L1208V	ENST00000394105	22/27	184	161	23	137	137	0	strelka-varscan-mutect	GAPVD1,missense_variant,p.Leu1154Val,ENST00000470056,;GAPVD1,missense_variant,p.Leu1199Val,ENST00000394104,;GAPVD1,missense_variant,p.Leu1181Val,ENST00000297933,NM_001282680.1;GAPVD1,missense_variant,p.Leu1199Val,ENST00000495955,NM_001282679.1;GAPVD1,missense_variant,p.Leu1208Val,ENST00000394105,NM_015635.3;GAPVD1,missense_variant,p.Leu1133Val,ENST00000394083,;GAPVD1,missense_variant,p.Leu1160Val,ENST00000312123,NM_001282681.1;GAPVD1,non_coding_transcript_exon_variant,,ENST00000474637,;GAPVD1,upstream_gene_variant,,ENST00000467707,;	G	ENST00000394105	Transcript	missense_variant	3782/5207	3622/4464	1208/1487	L/V	Ctg/Gtg		1		1	GAPVD1	HGNC	HGNC:23375	protein_coding	YES	CCDS35138.1	ENSP00000377665	Q14C86	A0A024R8A2	UPI00001D76F1	NM_015635.3	tolerated(0.1)		22/27		hmmpanther:PTHR23101:SF68,hmmpanther:PTHR23101																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	83	125350844	125350844	C	G	1	0	0	0	0	1	0	0	0	6107	564	20	4		4	GAPVD1	9	125350844	Missense_Mutation	SNP	C	C3N-01823_TP	2689030	125350844	13043873	248	27591											
PBX3	0	.	GRCh38	chr9	125960847	125960847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcgcccaccacaccaaattCcggtgcgtactgggggctcg	7	8	11	15	4	0	0	0	0	0	0	3	0	1	0	4	3	2	2	4	3	2	3			C3N-01823_TP	C3N-01823_NB	C	C																c.1007C>G	p.Ser336Cys	p.S336C	ENST00000373489	6/9	107	89	18	70	70	0	strelka-varscan-mutect	PBX3,missense_variant,p.Ser357Cys,ENST00000373487,;PBX3,missense_variant,p.Ser261Cys,ENST00000447726,NM_001134778.1;PBX3,missense_variant,p.Ser336Cys,ENST00000373489,NM_006195.5;PBX3,missense_variant,p.Ser336Cys,ENST00000342287,;PBX3,splice_region_variant,,ENST00000538998,;PBX3,splice_region_variant,,ENST00000373482,;PBX3,splice_region_variant,,ENST00000373492,;	G	ENST00000373489	Transcript	missense_variant,splice_region_variant	1023/2775	1007/1305	336/434	S/C	tCc/tGc	COSM4456379	1		1	PBX3	HGNC	HGNC:8634	protein_coding	YES	CCDS6865.1	ENSP00000362588	P40426		UPI00001313B3	NM_006195.5	deleterious(0)		6/9		Low_complexity_(Seg):seg,hmmpanther:PTHR11850:SF97,hmmpanther:PTHR11850											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	83	125960847	125960847	C	G	1	0	0	0	0	1	0	0	0	11581	869	30	4		4	PBX3	9	125960847	Missense_Mutation	SNP	C	C3N-01823_TP	610003	125960847	12433870	249	27592											
ZBTB34	0	.	GRCh38	chr9	126880119	126880119	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcaccgaggtgaaagtGaagatggagaagtccgaccg	14	5	14	8	3	1	5	1	2	0	3	2	8	2	5	3	2	0	0	3	2	3	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.708G>T	p.=	p.V236V	ENST00000373452	1/1	379	320	59	274	274	0	strelka-varscan-mutect	ZBTB34,synonymous_variant,p.=,ENST00000319119,;ZBTB34,synonymous_variant,p.=,ENST00000373452,NM_001099270.1;	T	ENST00000373452	Transcript	synonymous_variant	772/6528	708/1503	236/500	V	gtG/gtT		1		1	ZBTB34	HGNC	HGNC:31446	protein_coding	YES	CCDS48023.1	ENSP00000362551	Q8NCN2		UPI00004031FA	NM_001099270.1			1/1																			LOW	1	SNV				1										PASS		.	.												T	2	4	83	126880119	126880119	G	T	1	0	0	0	0	0	0	0	1	18106	1277	45	2		2	ZBTB34	9	126880119	Silent	SNP	G	C3N-01823_TP	919272	126880119	11514598	250	27593											
SETX	0	.	GRCh38	chr9	132342744	132342744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggatgtttatcaaacacCtgaaaggagcaattggcttg	12	11	10	8	0	1	1	1	1	0	0	1	3	1	3	2	3	2	3	2	3	4	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.444G>T	p.Gln148His	p.Q148H	ENST00000224140	5/26	543	455	88	334	333	1	strelka-varscan-mutect	SETX,missense_variant,p.Gln148His,ENST00000224140,NM_015046.5;	A	ENST00000224140	Transcript	missense_variant	627/11100	444/8034	148/2677	Q/H	caG/caT		1		-1	SETX	HGNC	HGNC:445	protein_coding	YES	CCDS6947.1	ENSP00000224140	Q7Z333		UPI0000210D28	NM_015046.5	tolerated(0.08)		5/26		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF377																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	132342744	132342744	C	A	1	0	0	0	0	1	0	0	0	14420	680	24	2		2	SETX	9	132342744	Missense_Mutation	SNP	C	C3N-01823_TP	5462625	132342744	6051973	251	27594											
TTF1	0	.	GRCh38	chr9	132401644	132401644	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccttttgacagacgtaagcTtccttttcttagacttcttc	7	17	5	12	1	2	3	0	1	2	2	4	3	3	3	2	0	1	2	2	0	2	9	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.1178A>C	p.Lys393Thr	p.K393T	ENST00000334270	2/11	368	311	57	259	259	0	strelka-varscan-mutect	TTF1,missense_variant,p.Lys393Thr,ENST00000334270,NM_007344.3;TTF1,intron_variant,,ENST00000612514,NM_001205296.1;	G	ENST00000334270	Transcript	missense_variant	1218/3052	1178/2718	393/905	K/T	aAg/aCg		1		-1	TTF1	HGNC	HGNC:12397	protein_coding	YES	CCDS6948.1	ENSP00000333920	Q15361	A0A024R8C1	UPI00001B55A7	NM_007344.3	deleterious(0)		2/11		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	83	132401644	132401644	T	G	1	0	0	0	0	1	0	0	0	17228	1609	56	5		5	TTF1	9	132401644	Missense_Mutation	SNP	T	C3N-01823_TP	58900	132401644	5993073	252	27595											
STKLD1	0	.	GRCh38	chr9	133385643	133385643	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgctgaagctgcggcaCgcccacatctctgtgtacca	8	8	9	16	2	1	1	0	1	1	0	2	1	1	1	3	1	4	4	3	1	2	1	rs369047700		C3N-01823_TP	C3N-01823_NB	C	C																c.246C>G	p.His82Gln	p.H82Q	ENST00000371957	4/18	141	122	19	106	106	0	strelka-varscan-mutect	STKLD1,missense_variant,p.His82Gln,ENST00000371957,NM_153710.4;STKLD1,downstream_gene_variant,,ENST00000468046,;STKLD1,downstream_gene_variant,,ENST00000475232,;	G	ENST00000371957	Transcript	missense_variant	353/2825	246/2043	82/680	H/Q	caC/caG	rs369047700	1		1	STKLD1	HGNC	HGNC:28669	protein_coding	YES	CCDS35169.1	ENSP00000361025	Q8NE28		UPI00001D768C	NM_153710.4	deleterious(0)		4/18		PROSITE_profiles:PS50011,hmmpanther:PTHR24363,hmmpanther:PTHR24363:SF5,Gene3D:3.30.200.20,Pfam_domain:PF00069,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs369047700	.												G	3	3	83	133385643	133385643	C	G	1	0	0	0	0	1	0	0	0	15685	535	19	4		4	STKLD1	9	133385643	Missense_Mutation	SNP	C	C3N-01823_TP	983999	133385643	5009074	253	27596											
SARDH	0	.	GRCh38	chr9	133708325	133708325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatgttgcgcccggccaGcggctcatcgtgggggaaga	6	7	15	13	4	2	1	2	0	0	1	3	2	2	2	3	4	2	2	3	4	1	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1432C>A	p.Leu478Met	p.L478M	ENST00000371872	11/21	160	140	20	100	100	0	strelka-varscan-mutect	SARDH,missense_variant,p.Leu478Met,ENST00000371872,NM_007101.3;SARDH,missense_variant,p.Leu478Met,ENST00000439388,NM_001134707.1;SARDH,missense_variant,p.Leu198Met,ENST00000422262,;SARDH,missense_variant,p.Leu478Met,ENST00000427237,;SARDH,upstream_gene_variant,,ENST00000371868,;	T	ENST00000371872	Transcript	missense_variant	1690/3344	1432/2757	478/918	L/M	Ctg/Atg		1		-1	SARDH	HGNC	HGNC:10536	protein_coding	YES	CCDS6978.1	ENSP00000360938	Q9UL12		UPI000006F076	NM_007101.3	deleterious(0)		11/21		hmmpanther:PTHR13847:SF200,hmmpanther:PTHR13847,Pfam_domain:PF16350																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	133708325	133708325	G	T	1	0	0	0	0	1	0	0	0	14102	962	34	2		2	SARDH	9	133708325	Missense_Mutation	SNP	G	C3N-01823_TP	322682	133708325	4686392	254	27597											
SNAPC4	0	.	GRCh38	chr9	136387512	136387512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcactgggcatcgctcctaCctggcacctcttcccggatt	5	10	10	16	2	1	0	0	0	1	0	4	1	3	1	4	4	1	4	4	4	1	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1298G>T	p.Gly433Val	p.G433V	ENST00000298532	12/23	406	336	70	263	263	0	strelka-varscan-mutect	SNAPC4,missense_variant,p.Gly433Val,ENST00000298532,NM_003086.2;SNAPC4,missense_variant,p.Gly433Val,ENST00000637388,;	A	ENST00000298532	Transcript	missense_variant	1667/5010	1298/4410	433/1469	G/V	gGt/gTt		1		-1	SNAPC4	HGNC	HGNC:11137	protein_coding	YES	CCDS6998.1	ENSP00000298532	Q5SXM2	A0A024R8F4	UPI000013E4EC	NM_003086.2	deleterious(0)		12/23		Gene3D:1.10.10.60,Pfam_domain:PF00249,PROSITE_profiles:PS51294,hmmpanther:PTHR10641,hmmpanther:PTHR10641:SF486,SMART_domains:SM00717,Superfamily_domains:SSF46689,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	136387512	136387512	C	A	1	0	0	0	0	1	0	0	0	15158	507	18	2		2	SNAPC4	9	136387512	Missense_Mutation	SNP	C	C3N-01823_TP	2679187	136387512	2007205	255	27598											
NSMF	0	.	GRCh38	chr9	137457595	137457595	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcctgctgacgtcctccCggctgccaccagggctggcg	4	6	15	16	3	0	1	0	1	0	0	2	1	2	1	5	4	2	3	5	4	0	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.440G>C	p.Arg147Pro	p.R147P	ENST00000371475	3/16	180	156	24	91	91	0	strelka-varscan-mutect	NSMF,missense_variant,p.Arg147Pro,ENST00000371475,NM_001130969.1;NSMF,missense_variant,p.Arg147Pro,ENST00000265663,NM_015537.4;NSMF,missense_variant,p.Arg147Pro,ENST00000437259,NM_001130970.1;NSMF,missense_variant,p.Arg147Pro,ENST00000371474,NM_001130971.1;NSMF,missense_variant,p.Arg147Pro,ENST00000371473,NM_001178064.1;NSMF,missense_variant,p.Arg147Pro,ENST00000371472,;PNPLA7,downstream_gene_variant,,ENST00000406427,NM_001098537.2;PNPLA7,downstream_gene_variant,,ENST00000277531,NM_152286.4;NSMF,upstream_gene_variant,,ENST00000339554,;NSMF,upstream_gene_variant,,ENST00000482448,;PNPLA7,downstream_gene_variant,,ENST00000492278,;PNPLA7,downstream_gene_variant,,ENST00000469998,;NSMF,upstream_gene_variant,,ENST00000371482,;NSMF,upstream_gene_variant,,ENST00000484316,;NSMF,upstream_gene_variant,,ENST00000371468,;	G	ENST00000371475	Transcript	missense_variant	672/3646	440/1593	147/530	R/P	cGg/cCg		1		-1	NSMF	HGNC	HGNC:29843	protein_coding	YES	CCDS48069.1	ENSP00000360530	Q6X4W1		UPI000035198D	NM_001130969.1	tolerated_low_confidence(0.16)		3/16		hmmpanther:PTHR32061																	MODERATE	1	SNV	1			1										PASS		rs1332512759	.												G	3	3	83	137457595	137457595	C	G	1	0	0	0	0	1	0	0	0	10739	652	23	4		4	NSMF	9	137457595	Missense_Mutation	SNP	C	C3N-01823_TP	1070083	137457595	937122	256	27599											
CACNA1B	0	.	GRCh38	chr9	138118717	138118717	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggagccccagcctgggctGgagagccagggtcgagcggc	6	3	20	12	2	0	1	0	0	0	1	1	4	0	2	4	6	4	1	4	6	0	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.5979G>C	p.=	p.L1993L	ENST00000371372	44/47	208	171	37	112	112	0	strelka-varscan-mutect	CACNA1B,synonymous_variant,p.=,ENST00000371372,NM_000718.3;CACNA1B,synonymous_variant,p.=,ENST00000371363,;CACNA1B,synonymous_variant,p.=,ENST00000371355,;CACNA1B,synonymous_variant,p.=,ENST00000371357,;CACNA1B,synonymous_variant,p.=,ENST00000277549,;CACNA1B,synonymous_variant,p.=,ENST00000277551,NM_001243812.1;	C	ENST00000371372	Transcript	synonymous_variant	6124/9790	5979/7020	1993/2339	L	ctG/ctC		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3			44/47		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	83	138118717	138118717	G	C	1	0	0	0	0	0	0	0	1	2227	1335	47	4		4	CACNA1B	9	138118717	Silent	SNP	G	C3N-01823_TP	661122	138118717	276000	257	27600											
ADARB2	0	.	GRCh38	chr10	1200195	1200195	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccccacccaggagcccaggGagcctggtcctctctgtccg	5	6	12	18	1	1	0	0	0	1	0	4	2	3	2	7	3	2	0	7	3	0	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.162C>A	p.=	p.L54L	ENST00000381310	1/3	221	173	48	138	138	0	strelka-varscan-mutect	ADARB2,synonymous_variant,p.=,ENST00000381310,;ADARB2,intron_variant,,ENST00000381312,NM_018702.3;ADARB2,intron_variant,,ENST00000381305,;ADARB2,non_coding_transcript_exon_variant,,ENST00000477140,;	T	ENST00000381310	Transcript	synonymous_variant	166/1810	162/747	54/248	L	ctC/ctA		1		-1	ADARB2	HGNC	HGNC:227	protein_coding			ENSP00000370711	Q9NS39		UPI00001A81F9				1/3		Low_complexity_(Seg):seg,SMART_domains:SM00552																	LOW		SNV	1			1										PASS		.	.												T	2	4	83	1200195	1200195	G	T	1	0	0	0	0	0	0	0	1	327	1161	41	2		2	ADARB2	10	1200195	Silent	SNP	G	C3N-01823_TP		1200195	132597227	258	27601											
ADARB2	0	.	GRCh38	chr10	1363824	1363824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgcttcctcttcgcgccgGgcgcgccgccccgggcccgg	0	5	15	21	9	1	0	0	0	1	0	3	0	2	0	7	3	0	1	7	3	0	2	rs777258791		C3N-01823_TP	C3N-01823_NB	G	G																c.281C>A	p.Pro94His	p.P94H	ENST00000381312	3/10	291	256	35	216	215	1	strelka-varscan-mutect	ADARB2,missense_variant,p.Pro94His,ENST00000381312,NM_018702.3;RP11-398B16.2,upstream_gene_variant,,ENST00000432987,;	T	ENST00000381312	Transcript	missense_variant	607/8421	281/2220	94/739	P/H	cCc/cAc	rs777258791	1		-1	ADARB2	HGNC	HGNC:227	protein_coding	YES	CCDS7058.1	ENSP00000370713	Q9NS39		UPI0000071776	NM_018702.3	deleterious(0.02)		3/10		hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF17																	MODERATE	1	SNV	1			1										PASS		rs777258791	.												T	3	4	83	1363824	1363824	G	T	1	0	0	0	0	1	0	0	0	327	1232	43	2		2	ADARB2	10	1363824	Missense_Mutation	SNP	G	C3N-01823_TP	163629	1363824	132433598	259	27602											
ANKRD16	0	.	GRCh38	chr10	5887899	5887899	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgtcttccaggcaccTgggcaaacagtgagcaggta	9	9	11	12	0	2	1	0	1	2	0	4	1	3	1	2	3	2	4	2	3	2	2	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.483A>G	p.=	p.P161P	ENST00000380094	2/8	377	313	64	274	274	0	strelka-varscan-mutect	ANKRD16,synonymous_variant,p.=,ENST00000380094,NM_019046.2;ANKRD16,synonymous_variant,p.=,ENST00000380092,NM_001009941.2;ANKRD16,synonymous_variant,p.=,ENST00000191063,NM_001009943.2;FBXO18,upstream_gene_variant,,ENST00000397269,NM_001258452.1,NM_001258453.1;FBXO18,upstream_gene_variant,,ENST00000362091,NM_178150.2;FBXO18,upstream_gene_variant,,ENST00000470089,;FBXO18,upstream_gene_variant,,ENST00000462507,;ANKRD16,non_coding_transcript_exon_variant,,ENST00000492368,;	C	ENST00000380094	Transcript	synonymous_variant	1027/2738	483/1086	161/361	P	ccA/ccG		1		-1	ANKRD16	HGNC	HGNC:23471	protein_coding	YES	CCDS31136.1	ENSP00000369436	Q6P6B7		UPI00001D809F	NM_019046.2			2/8		PROSITE_profiles:PS50297,hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF34,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	83	5887899	5887899	T	C	1	0	0	0	0	0	0	0	1	746	1567	55	5		5	ANKRD16	10	5887899	Silent	SNP	T	C3N-01823_TP	4524075	5887899	127909523	260	27603											
ITIH5	0	.	GRCh38	chr10	7616014	7616014	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcccaccatagaagcacTgctgtcaagcacgaatacca	13	7	8	13	1	1	1	1	0	0	1	2	2	2	1	3	1	4	4	3	1	5	3	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.907A>C	p.Ser303Arg	p.S303R	ENST00000397146	7/14	177	154	23	104	104	0	strelka-varscan-mutect	ITIH5,missense_variant,p.Ser303Arg,ENST00000397146,NM_030569.6;ITIH5,missense_variant,p.Ser303Arg,ENST00000397145,NM_001001851.2;ITIH5,missense_variant,p.Ser89Arg,ENST00000613909,NM_032817.5;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;ITIH5,missense_variant,p.Ser81Arg,ENST00000461751,;ITIH5,non_coding_transcript_exon_variant,,ENST00000476417,;	G	ENST00000397146	Transcript	missense_variant	986/6721	907/2829	303/942	S/R	Agt/Cgt		1		-1	ITIH5	HGNC	HGNC:21449	protein_coding	YES		ENSP00000380333		C9J2H1	UPI000014D02E	NM_030569.6	deleterious(0.05)		7/14		PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF62,Pfam_domain:PF13768,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	83	7616014	7616014	T	G	1	0	0	0	0	1	0	0	0	7813	1580	55	5		5	ITIH5	10	7616014	Missense_Mutation	SNP	T	C3N-01823_TP	1728115	7616014	126181408	261	27604											
DCLRE1C	0	.	GRCh38	chr10	14909184	14909184	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacactctgctctgcagcAtcctggggtttgtctcagtt	6	14	9	12	0	3	0	1	0	3	0	5	0	4	0	1	2	4	5	1	2	1	3	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.1303T>A	p.Cys435Ser	p.C435S	ENST00000378278	14/14	248	197	51	193	193	0	strelka-varscan-mutect	DCLRE1C,missense_variant,p.Cys315Ser,ENST00000378255,NM_001289079.1;DCLRE1C,missense_variant,p.Cys315Ser,ENST00000396817,NM_001033858.2;DCLRE1C,missense_variant,p.Cys320Ser,ENST00000378246,NM_022487.3;DCLRE1C,missense_variant,p.Cys315Ser,ENST00000378254,NM_001289077.1;DCLRE1C,missense_variant,p.Cys315Ser,ENST00000378258,NM_001033857.2;DCLRE1C,missense_variant,p.Cys435Ser,ENST00000378278,NM_001033855.2;DCLRE1C,missense_variant,p.Cys320Ser,ENST00000378249,NM_001289078.1;DCLRE1C,missense_variant,p.Cys320Ser,ENST00000357717,NM_001289076.1;DCLRE1C,missense_variant,p.Cys88Ser,ENST00000378242,;DCLRE1C,intron_variant,,ENST00000378289,;SUV39H2,downstream_gene_variant,,ENST00000313519,NM_001193425.1,NM_024670.3;DCLRE1C,non_coding_transcript_exon_variant,,ENST00000492201,;DCLRE1C,non_coding_transcript_exon_variant,,ENST00000489845,;SUV39H2,downstream_gene_variant,,ENST00000378331,;	T	ENST00000378278	Transcript	missense_variant	1341/2354	1303/2079	435/692	C/S	Tgc/Agc		1		-1	DCLRE1C	HGNC	HGNC:17642	protein_coding	YES	CCDS31149.1	ENSP00000367527	Q96SD1		UPI000013EEDC	NM_001033855.2	tolerated_low_confidence(0.69)		14/14		hmmpanther:PTHR23240,hmmpanther:PTHR23240:SF8																	MODERATE	1	SNV	1			1										PASS		rs921819288	.												T	3	4	83	14909184	14909184	A	T	1	0	0	0	0	1	0	0	0	4098	217	8	4		4	DCLRE1C	10	14909184	Missense_Mutation	SNP	A	C3N-01823_TP	7293170	14909184	118888238	262	27605											
VIM	0	.	GRCh38	chr10	17234752	17234752	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcgccaggcaaagcaGgagtccactgagtaccggag	10	4	14	13	2	0	1	0	1	0	0	1	3	1	3	4	3	3	3	4	3	2	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.942G>C	p.Gln314His	p.Q314H	ENST00000544301	6/10	564	495	69	389	389	0	strelka-varscan-mutect	VIM,missense_variant,p.Gln314His,ENST00000544301,NM_003380.3;VIM,missense_variant,p.Gln314His,ENST00000224237,;VIM,missense_variant,p.Gln140His,ENST00000421459,;VIM,downstream_gene_variant,,ENST00000478317,;VIM,downstream_gene_variant,,ENST00000478746,;RP11-124N14.3,non_coding_transcript_exon_variant,,ENST00000456355,;VIM-AS1,upstream_gene_variant,,ENST00000605833,;VIM,non_coding_transcript_exon_variant,,ENST00000495528,;VIM,downstream_gene_variant,,ENST00000485947,;VIM,downstream_gene_variant,,ENST00000637053,;VIM,missense_variant,p.Gln132His,ENST00000469543,;VIM,missense_variant,p.Gln314His,ENST00000487938,;	C	ENST00000544301	Transcript	missense_variant	1355/2128	942/1401	314/466	Q/H	caG/caC		1		1	VIM	HGNC	HGNC:12692	protein_coding	YES	CCDS7120.1	ENSP00000446007	P08670	V9HWE1	UPI00000012EB	NM_003380.3	tolerated(0.12)		6/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF27,Pfam_domain:PF00038,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	17234752	17234752	G	C	1	0	0	0	0	1	0	0	0	17712	991	35	4		4	VIM	10	17234752	Missense_Mutation	SNP	G	C3N-01823_TP	2325568	17234752	116562670	263	27606											
MYO3A	0	.	GRCh38	chr10	26157342	26157342	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatttgttgtctaaaatggtGgtgggccaacctcattttgt	8	16	11	6	0	2	0	1	0	1	0	2	1	2	0	2	3	1	1	2	3	3	5			C3N-01823_TP	C3N-01823_NB	G	G																c.2826G>C	p.=	p.V942V	ENST00000265944	26/35	602	516	86	413	413	0	strelka-varscan-mutect	MYO3A,synonymous_variant,p.=,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;	C	ENST00000265944	Transcript	synonymous_variant	2992/5581	2826/4851	942/1616	V	gtG/gtC	COSM1505239	1		1	MYO3A	HGNC	HGNC:7601	protein_coding	YES	CCDS7148.1	ENSP00000265944	Q8NEV4		UPI000014140A	NM_017433.4			26/35		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF387,SMART_domains:SM00242,Superfamily_domains:SSF52540											1						LOW	1	SNV	1		1	1										PASS		.	.												C	2	2	83	26157342	26157342	G	C	1	0	0	0	0	0	0	0	1	10077	1335	47	4		4	MYO3A	10	26157342	Silent	SNP	G	C3N-01823_TP	8922590	26157342	107640080	264	27607											
ARMC4	0	.	GRCh38	chr10	27944922	27944922	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctaagctgaaatccctcAttgaacacaacgcaatcact	15	8	6	12	1	2	2	2	2	0	0	3	3	3	2	1	0	4	3	1	0	5	2	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.1427T>A	p.Met476Lys	p.M476K	ENST00000305242	11/20	260	197	63	183	181	2	strelka-varscan-mutect	ARMC4,missense_variant,p.Met476Lys,ENST00000305242,NM_018076.3,NM_001290020.1;ARMC4,non_coding_transcript_exon_variant,,ENST00000480504,;	T	ENST00000305242	Transcript	missense_variant	1520/3572	1427/3135	476/1044	M/K	aTg/aAg		1		-1	ARMC4	HGNC	HGNC:25583	protein_coding	YES	CCDS7157.1	ENSP00000306410	Q5T2S8	A0A140VKF7	UPI00001A95E1	NM_018076.3,NM_001290020.1	deleterious(0.03)		11/20		hmmpanther:PTHR23315:SF44,hmmpanther:PTHR23315,Superfamily_domains:SSF48371																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	83	27944922	27944922	A	T	1	0	0	0	0	1	0	0	0	1094	217	8	4		4	ARMC4	10	27944922	Missense_Mutation	SNP	A	C3N-01823_TP	1787580	27944922	105852500	265	27608											
ZNF37A	0	.	GRCh38	chr10	38118708	38118708	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcatagaacacacacaggGgagaaaccctatgaatgtaa	18	6	8	9	0	1	3	1	1	0	2	1	4	1	3	1	2	2	1	1	2	6	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1557G>C	p.=	p.G519G	ENST00000361085	7/7	197	164	33	102	102	0	strelka-varscan-mutect	ZNF37A,synonymous_variant,p.=,ENST00000361085,NM_001178101.1,NM_003421.2;ZNF37A,synonymous_variant,p.=,ENST00000351773,NM_001324248.1,NM_001324246.1,NM_001324249.1,NM_001007094.2;ZNF37A,intron_variant,,ENST00000638053,NM_001324256.1;ZNF37A,downstream_gene_variant,,ENST00000479469,;ZNF37A,downstream_gene_variant,,ENST00000477790,;	C	ENST00000361085	Transcript	synonymous_variant	1902/8738	1557/1686	519/561	G	ggG/ggC		1		1	ZNF37A	HGNC	HGNC:13102	protein_coding	YES	CCDS31183.1	ENSP00000354377	P17032		UPI000006E045	NM_001178101.1,NM_003421.2			7/7		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF188,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	LOW	1	SNV	2			1										PASS		rs1337850653	.												C	2	2	83	38118708	38118708	G	C	1	0	0	0	0	0	0	0	1	18444	1219	43	4		4	ZNF37A	10	38118708	Silent	SNP	G	C3N-01823_TP	10173786	38118708	95678714	266	27609											
WDFY4	0	.	GRCh38	chr10	48774612	48774612	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcagccccctccactCacgcctcatcaggatctttg	7	9	8	17	1	4	0	3	0	1	0	5	1	5	1	4	2	1	1	4	2	0	1			C3N-01823_TP	C3N-01823_NB	C	C																c.2708C>A	p.Ser903Ter	p.S903*	ENST00000325239	13/61	260	226	34	167	166	1	strelka-varscan-mutect	WDFY4,stop_gained,p.Ser903Ter,ENST00000325239,NM_020945.1;	A	ENST00000325239	Transcript	stop_gained	2708/9555	2708/9555	903/3184	S/*	tCa/tAa	COSM4923302,COSM4923303	1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1			13/61		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85,Superfamily_domains:SSF48371											1,1						HIGH	1	SNV	5		1,1	1										PASS		.	.												A	4	1	83	48774612	48774612	C	A	1	0	0	0	0	0	1	0	0	17831	838	29	2		2	WDFY4	10	48774612	Nonsense_Mutation	SNP	C	C3N-01823_TP	10655904	48774612	85022810	267	27610											
WDFY4	0	.	GRCh38	chr10	48778717	48778717	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccgctgcgcttcctgacGttggtgcgccacctggccag	4	8	12	17	4	0	1	0	1	0	0	1	1	1	1	5	2	2	3	5	2	0	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.3282G>T	p.=	p.T1094T	ENST00000325239	17/61	522	438	84	423	423	0	strelka-varscan-mutect	WDFY4,synonymous_variant,p.=,ENST00000325239,NM_020945.1;	T	ENST00000325239	Transcript	synonymous_variant	3282/9555	3282/9555	1094/3184	T	acG/acT		1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1			17/61		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85																	LOW	1	SNV	5			1										PASS		rs1025102712	.												T	2	4	83	48778717	48778717	G	T	1	0	0	0	0	0	0	0	1	17831	1132	40	1		1	WDFY4	10	48778717	Silent	SNP	G	C3N-01823_TP	4105	48778717	85018705	268	27611											
C10orf128	0	.	GRCh38	chr10	49167936	49167936	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccccaggggtcttgcctgTtgccagcacttgagctcctc	5	10	11	15	0	1	1	0	1	1	0	3	1	2	1	5	2	5	3	5	2	0	3	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.70A>T	p.Thr24Ser	p.T24S	ENST00000374153	2/7	408	370	38	295	293	2	strelka-varscan-mutect	C10orf128,missense_variant,p.Thr18Ser,ENST00000374151,NM_001288743.1;C10orf128,missense_variant,p.Thr24Ser,ENST00000374148,;C10orf128,missense_variant,p.Thr24Ser,ENST00000374153,NM_001288740.1;C10orf128,missense_variant,p.Thr16Ser,ENST00000453436,NM_001288742.1;C10orf128,missense_variant,p.Thr24Ser,ENST00000474718,NM_001010863.2;C10orf128,non_coding_transcript_exon_variant,,ENST00000470884,;C10orf128,upstream_gene_variant,,ENST00000488276,;C10orf128,missense_variant,p.Thr45Ser,ENST00000374156,;	A	ENST00000374153	Transcript	missense_variant	110/1569	70/390	24/129	T/S	Aca/Tca		1		-1	C10orf128	HGNC	HGNC:27274	protein_coding	YES	CCDS73128.1	ENSP00000363268	Q5T292		UPI0000470069	NM_001288740.1	tolerated(0.22)		2/7		Pfam_domain:PF14986,hmmpanther:PTHR37857,hmmpanther:PTHR37857:SF1																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	83	49167936	49167936	T	A	1	0	0	0	0	1	0	0	0	1761	1725	60	4		4	C10orf128	10	49167936	Missense_Mutation	SNP	T	C3N-01823_TP	389219	49167936	84629486	269	27612											
UBE2D1	0	.	GRCh38	chr10	58361374	58361374	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgatccacctgctcacTgttcagctggacctgtggga	7	9	12	13	2	2	0	2	0	0	0	3	3	3	2	3	2	3	3	3	2	0	1	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.61T>A	p.Cys21Ser	p.C21S	ENST00000373910	2/7	294	245	49	250	250	0	strelka-varscan-mutect	UBE2D1,missense_variant,p.Cys21Ser,ENST00000373910,NM_003338.4;UBE2D1,5_prime_UTR_variant,,ENST00000615793,NM_001204880.1;UBE2D1,upstream_gene_variant,,ENST00000473824,;	A	ENST00000373910	Transcript	missense_variant	288/2659	61/444	21/147	C/S	Tgt/Agt		1		1	UBE2D1	HGNC	HGNC:12474	protein_coding	YES	CCDS7252.1	ENSP00000363019	P51668	A0A024QZJ2	UPI0000001661	NM_003338.4	deleterious_low_confidence(0)		2/7		Gene3D:3.10.110.10,Pfam_domain:PF00179,PROSITE_profiles:PS50127,hmmpanther:PTHR24068,SMART_domains:SM00212,Superfamily_domains:SSF54495																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	58361374	58361374	T	A	1	0	0	0	0	1	0	0	0	17369	1580	55	4		4	UBE2D1	10	58361374	Missense_Mutation	SNP	T	C3N-01823_TP	9193438	58361374	75436048	270	27613											
CDH23	0	.	GRCh38	chr10	71798525	71798525	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taatgggctggtcacctacaCcctgctggacctggtgcccc	6	9	11	15	0	1	0	1	0	0	0	1	1	1	1	5	4	3	2	5	4	2	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.281C>A	p.Thr94Asn	p.T94N	ENST00000398788	3/23	146	130	16	97	97	0	strelka-varscan-mutect	CDH23,missense_variant,p.Thr2339Asn,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Thr2334Asn,ENST00000622827,;CDH23,missense_variant,p.Thr94Asn,ENST00000398788,NM_001171933.1;CDH23,missense_variant,p.Thr94Asn,ENST00000619887,NM_001171934.1;CDH23,non_coding_transcript_exon_variant,,ENST00000475158,;	A	ENST00000398788	Transcript	missense_variant	598/4329	281/3345	94/1114	T/N	aCc/aAc		1		1	CDH23	HGNC	HGNC:13733	protein_coding	YES	CCDS53540.1	ENSP00000381768	Q9H251		UPI0000496839	NM_001171933.1	tolerated(0.23)		3/23		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF277,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	71798525	71798525	C	A	1	0	0	0	0	1	0	0	0	2811	507	18	2		2	CDH23	10	71798525	Missense_Mutation	SNP	C	C3N-01823_TP	13437151	71798525	61998897	271	27614											
PAX2	0	.	GRCh38	chr10	100806491	100806491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtggacagtttgcggaaGcacttgcgagctgacacctt	8	10	14	9	2	0	1	0	1	0	0	0	4	0	3	1	3	4	3	1	3	1	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.678G>A	p.=	p.K226K	ENST00000370296	6/11	579	518	61	373	373	0	strelka-varscan-mutect	PAX2,synonymous_variant,p.=,ENST00000370296,NM_003988.3;PAX2,synonymous_variant,p.=,ENST00000428433,NM_003987.3,NM_003990.3;PAX2,synonymous_variant,p.=,ENST00000355243,NM_001304569.1,NM_000278.3,NM_003989.3;PAX2,synonymous_variant,p.=,ENST00000361791,;PAX2,synonymous_variant,p.=,ENST00000554172,;PAX2,non_coding_transcript_exon_variant,,ENST00000554363,;PAX2,non_coding_transcript_exon_variant,,ENST00000553492,;	A	ENST00000370296	Transcript	synonymous_variant	1228/4140	678/1191	226/396	K	aaG/aaA		1		1	PAX2	HGNC	HGNC:8616	protein_coding	YES	CCDS7499.1	ENSP00000359319	Q02962		UPI000016AE71	NM_003988.3			6/11		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF172,Gene3D:1.10.10.60																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	83	100806491	100806491	G	A	1	0	0	0	0	0	0	0	1	11564	962	34	3		3	PAX2	10	100806491	Silent	SNP	G	C3N-01823_TP	29007966	100806491	32990931	272	27615											
TCERG1L	0	.	GRCh38	chr10	131308248	131308248	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctaacaccaccgtggggagCggcctggaggcaggagccgg	8	3	18	12	3	0	0	0	0	0	0	0	3	0	3	4	7	3	2	4	7	1	1	rs144369307		C3N-01823_TP	C3N-01823_NB	C	C																c.633G>C	p.=	p.P211P	ENST00000368642	3/12	205	181	24	188	188	0	strelka-varscan-mutect	TCERG1L,synonymous_variant,p.=,ENST00000368642,NM_174937.3;	G	ENST00000368642	Transcript	synonymous_variant	719/2618	633/1761	211/586	P	ccG/ccC	rs144369307,COSM427257	1		-1	TCERG1L	HGNC	HGNC:23533	protein_coding	YES	CCDS7662.2	ENSP00000357631	Q5VWI1		UPI00004589C8	NM_174937.3			3/12		hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF5											0,1						LOW	1	SNV	1		0,1	1										PASS		rs144369307	.												G	2	3	83	131308248	131308248	C	G	1	0	0	0	0	0	0	0	1	16093	755	27	4		4	TCERG1L	10	131308248	Silent	SNP	C	C3N-01823_TP	30501757	131308248	2489174	273	27616											
TRPM5	0	.	GRCh38	chr11	2415329	2415329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgaagagcaggctcttgCgtgacacggagcggtagagc	9	6	17	9	4	1	3	0	1	1	2	2	5	1	4	0	4	4	3	0	4	2	2	rs80326119		C3N-01823_TP	C3N-01823_NB	C	C																c.1271G>T	p.Arg424Leu	p.R424L	ENST00000155858	9/24	274	242	32	179	179	0	strelka-varscan-mutect	TRPM5,missense_variant,p.Arg424Leu,ENST00000155858,NM_014555.3;TRPM5,missense_variant,p.Arg418Leu,ENST00000533881,;TRPM5,missense_variant,p.Arg424Leu,ENST00000533060,;TRPM5,missense_variant,p.Arg424Leu,ENST00000528453,;	A	ENST00000155858	Transcript	missense_variant	1280/3929	1271/3498	424/1165	R/L	cGc/cTc	rs80326119	1		-1	TRPM5	HGNC	HGNC:14323	protein_coding	YES	CCDS31340.1	ENSP00000155858	Q9NZQ8		UPI000003B069	NM_014555.3	tolerated(0.05)		9/24		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF5																	MODERATE	1	SNV	1			1										PASS		rs80326119	.												A	3	1	83	2415329	2415329	C	A	1	0	0	0	0	1	0	0	0	17095	768	27	1		1	TRPM5	11	2415329	Missense_Mutation	SNP	C	C3N-01823_TP		2415329	132671293	274	27617											
OR51B4	0	.	GRCh38	chr11	5301558	5301558	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaattggtaagaatgcagTtgtacctcagtggtgtgcgg	9	11	16	5	1	1	1	1	0	0	1	1	2	1	2	1	4	3	4	1	4	4	4	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.389A>G	p.Asn130Ser	p.N130S	ENST00000380224	1/1	370	301	69	232	232	0	strelka-varscan-mutect	OR51B4,missense_variant,p.Asn130Ser,ENST00000380224,NM_033179.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,downstream_gene_variant,,ENST00000420465,;	C	ENST00000380224	Transcript	missense_variant	439/983	389/933	130/310	N/S	aAc/aGc		1		-1	OR51B4	HGNC	HGNC:14708	protein_coding	YES	CCDS7757.1	ENSP00000369573	Q9Y5P0		UPI0000041B31	NM_033179.2	tolerated(0.61)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF154,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE		SNV				1										PASS		.	.												C	3	2	83	5301558	5301558	T	C	1	0	0	0	0	1	0	0	0	11164	1725	60	5		5	OR51B4	11	5301558	Missense_Mutation	SNP	T	C3N-01823_TP	2886229	5301558	129785064	275	27618											
OR56A3	0	.	GRCh38	chr11	5948166	5948166	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggctaagaagaaagtctccCctgatgtgccagtcttgctc	9	11	10	11	0	2	3	0	1	2	2	4	3	2	3	3	1	2	2	3	1	3	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.820C>A	p.Pro274Thr	p.P274T	ENST00000329564	1/1	358	316	42	248	248	0	strelka-varscan-mutect	OR56A3,missense_variant,p.Pro274Thr,ENST00000329564,NM_001003443.2;AC025016.1,downstream_gene_variant,,ENST00000528915,;	A	ENST00000329564	Transcript	missense_variant	827/1022	820/948	274/315	P/T	Cct/Act		1		1	OR56A3	HGNC	HGNC:14786	protein_coding	YES	CCDS41614.1	ENSP00000331572	Q8NH54	A0A126GWL6	UPI0000041BF7	NM_001003443.2	deleterious(0.04)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF40,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												A	3	1	83	5948166	5948166	C	A	1	0	0	0	0	1	0	0	0	11206	623	22	2		2	OR56A3	11	5948166	Missense_Mutation	SNP	C	C3N-01823_TP	646608	5948166	129138456	276	27619											
DCHS1	0	.	GRCh38	chr11	6622855	6622855	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcccaaggaggctgccaCggcccctactaatagcaggt	11	6	10	14	1	0	0	0	0	0	0	1	1	1	1	4	4	4	2	4	4	5	3	rs576933170		C3N-01823_TP	C3N-01823_NB	C	C																c.8821G>C	p.Val2941Leu	p.V2941L	ENST00000299441	21/21	488	428	60	399	399	0	strelka-varscan-mutect	DCHS1,missense_variant,p.Val2941Leu,ENST00000299441,NM_003737.3;TPP1,upstream_gene_variant,,ENST00000299427,NM_000391.3;TPP1,upstream_gene_variant,,ENST00000533371,;TPP1,upstream_gene_variant,,ENST00000528657,;TPP1,upstream_gene_variant,,ENST00000436873,;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;RP11-732A19.9,downstream_gene_variant,,ENST00000545572,;TPP1,upstream_gene_variant,,ENST00000534644,;TPP1,upstream_gene_variant,,ENST00000524903,;TPP1,upstream_gene_variant,,ENST00000530040,;TPP1,upstream_gene_variant,,ENST00000428886,;TPP1,upstream_gene_variant,,ENST00000531754,;TPP1,upstream_gene_variant,,ENST00000528571,;TPP1,upstream_gene_variant,,ENST00000528917,;	G	ENST00000299441	Transcript	missense_variant	9233/10765	8821/9897	2941/3298	V/L	Gtg/Ctg	rs576933170	1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3	deleterious(0.01)		21/21		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF335,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs576933170	.												G	3	3	83	6622855	6622855	C	G	1	0	0	0	0	1	0	0	0	4090	536	19	4		4	DCHS1	11	6622855	Missense_Mutation	SNP	C	C3N-01823_TP	674689	6622855	128463767	277	27620											
OR2AG2	0	.	GRCh38	chr11	6768612	6768612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgtcataggccatgaaggCcagtaggaggtcctcagcgc	9	7	13	12	1	2	1	2	1	0	0	3	2	3	2	4	4	1	1	4	4	3	2	rs201037101		C3N-01823_TP	C3N-01823_NB	C	C																c.346G>A	p.Ala116Thr	p.A116T	ENST00000338569	1/1	372	353	19	233	233	0	varscan-mutect	OR2AG2,missense_variant,p.Ala116Thr,ENST00000338569,NM_001004490.1;	T	ENST00000338569	Transcript	missense_variant	444/1069	346/951	116/316	A/T	Gcc/Acc	rs201037101	1		-1	OR2AG2	HGNC	HGNC:15143	protein_coding	YES	CCDS31413.1	ENSP00000342697	A6NM03	A0A126GWC6	UPI0000041C10	NM_001004490.1	deleterious(0.03)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF183,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		rs201037101	.												T	3	4	83	6768612	6768612	C	T	1	0	0	0	0	1	0	0	0	11062	739	26	3		3	OR2AG2	11	6768612	Missense_Mutation	SNP	C	C3N-01823_TP	145757	6768612	128318010	278	27621											
OR2D2	0	.	GRCh38	chr11	6892021	6892021	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtagcctcagtatgaaggtGgtgtctaccacagacaccag	11	8	12	10	0	2	2	1	1	1	1	2	2	2	2	3	3	2	2	3	3	4	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.480C>A	p.=	p.T160T	ENST00000299459	1/1	249	216	33	137	135	2	strelka-varscan-mutect	OR2D2,synonymous_variant,p.=,ENST00000299459,NM_003700.1;RP11-413N10.3,intron_variant,,ENST00000637205,;	T	ENST00000299459	Transcript	synonymous_variant	579/1110	480/927	160/308	T	acC/acA		1		-1	OR2D2	HGNC	HGNC:8244	protein_coding	YES	CCDS31416.1	ENSP00000299459	Q9H210	A0A126GVN9	UPI0000061F0B	NM_003700.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF156,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												T	2	4	83	6892021	6892021	G	T	1	0	0	0	0	0	0	0	1	11073	1335	47	2		2	OR2D2	11	6892021	Silent	SNP	G	C3N-01823_TP	123409	6892021	128194601	279	27622											
NUCB2	0	.	GRCh38	chr11	17331411	17331411	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttttcttttttccaacaGacatttaaagtctgaagtcc	10	18	4	9	0	2	2	0	1	2	1	4	2	4	2	2	0	1	0	2	0	4	8	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1256-1G>T		p.X419_splice	ENST00000529010		43	35	8	43	43	0	strelka-varscan-mutect	NUCB2,splice_acceptor_variant,,ENST00000529010,NM_005013.2;NUCB2,splice_acceptor_variant,,ENST00000622082,;NUCB2,splice_acceptor_variant,,ENST00000458064,;NUCB2,splice_acceptor_variant,,ENST00000527580,;NUCB2,splice_acceptor_variant,,ENST00000527735,;NUCB2,downstream_gene_variant,,ENST00000323688,;NUCB2,upstream_gene_variant,,ENST00000532240,;NUCB2,splice_acceptor_variant,,ENST00000533773,;NUCB2,splice_acceptor_variant,,ENST00000531242,;	T	ENST00000529010	Transcript	splice_acceptor_variant	-/2274	1256/1263	419/420				1		1	NUCB2	HGNC	HGNC:8044	protein_coding	YES	CCDS41623.1	ENSP00000436455		V9HW75	UPI000012FE2C	NM_005013.2				13/13																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	83	17331411	17331411	G	T	1	0	0	0	0	0	0	1	0	10785	956	33	2		2	NUCB2	11	17331411	Splice_Site	SNP	G	C3N-01823_TP	10439390	17331411	117755211	280	27623											
UEVLD	0	.	GRCh38	chr11	18534412	18534412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctactgatagtccaacaGaccaggatctttgacctttt	11	12	7	11	0	1	3	0	2	1	1	2	4	2	4	3	1	3	1	3	1	3	5	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1166C>G	p.Ser389Cys	p.S389C	ENST00000396197	11/12	267	244	23	195	195	0	strelka-varscan-mutect	UEVLD,missense_variant,p.Ser389Cys,ENST00000396197,NM_001040697.2;UEVLD,missense_variant,p.Ser367Cys,ENST00000379387,NM_001261382.1;UEVLD,intron_variant,,ENST00000543987,NM_018314.4;UEVLD,intron_variant,,ENST00000535484,NM_001261385.1;UEVLD,intron_variant,,ENST00000320750,NM_001261383.1;UEVLD,intron_variant,,ENST00000541984,NM_001261386.1;Metazoa_SRP,upstream_gene_variant,,ENST00000616888,;UEVLD,non_coding_transcript_exon_variant,,ENST00000540666,;UEVLD,3_prime_UTR_variant,,ENST00000396196,;UEVLD,non_coding_transcript_exon_variant,,ENST00000539569,;	C	ENST00000396197	Transcript	missense_variant	1195/4156	1166/1416	389/471	S/C	tCt/tGt		1		-1	UEVLD	HGNC	HGNC:30866	protein_coding	YES	CCDS41624.1	ENSP00000379500	Q8IX04		UPI00001AF2D2	NM_001040697.2	deleterious(0.03)		11/12		hmmpanther:PTHR23306:SF18,hmmpanther:PTHR23306,Pfam_domain:PF02866,Gene3D:3.90.110.10,Superfamily_domains:SSF56327																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	83	18534412	18534412	G	C	1	0	0	0	0	1	0	0	0	17457	942	33	4		4	UEVLD	11	18534412	Missense_Mutation	SNP	G	C3N-01823_TP	1203001	18534412	116552210	281	27624											
SPTY2D1	0	.	GRCh38	chr11	18616072	18616072	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattcgctttttcactagttCctcttttctccttttctcct	4	22	2	13	1	4	0	1	0	3	0	8	0	5	0	3	0	0	2	3	0	2	9	rs746742966		C3N-01823_TP	C3N-01823_NB	C	C																c.202G>T	p.Glu68Ter	p.E68*	ENST00000336349	3/6	117	95	22	83	83	0	strelka-varscan-mutect	SPTY2D1,stop_gained,p.Glu68Ter,ENST00000336349,NM_194285.2;SPTY2D1,non_coding_transcript_exon_variant,,ENST00000543776,;SPTY2D1,non_coding_transcript_exon_variant,,ENST00000536336,;	A	ENST00000336349	Transcript	stop_gained	438/5754	202/2058	68/685	E/*	Gaa/Taa	rs746742966	1		-1	SPTY2D1	HGNC	HGNC:26818	protein_coding	YES	CCDS31441.1	ENSP00000337991	Q68D10		UPI00001607F0	NM_194285.2			3/6		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22691,hmmpanther:PTHR22691:SF8,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		rs746742966	.												A	4	1	83	18616072	18616072	C	A	1	0	0	0	0	0	1	0	0	15484	864	30	2		2	SPTY2D1	11	18616072	Nonsense_Mutation	SNP	C	C3N-01823_TP	81660	18616072	116470550	282	27625											
SLC6A5	0	.	GRCh38	chr11	20604338	20604338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaactggtccagcaaacTggacttcatcctgtccatgg	10	9	11	11	0	1	0	1	0	0	0	4	2	4	2	3	4	3	1	3	4	2	1	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.593T>C	p.Leu198Pro	p.L198P	ENST00000525748	3/16	146	124	22	119	119	0	strelka-varscan-mutect	SLC6A5,missense_variant,p.Leu198Pro,ENST00000525748,NM_004211.3;SLC6A5,intron_variant,,ENST00000298923,;	C	ENST00000525748	Transcript	missense_variant	866/7084	593/2394	198/797	L/P	cTg/cCg		1		1	SLC6A5	HGNC	HGNC:11051	protein_coding	YES	CCDS7854.1	ENSP00000434364	Q9Y345		UPI00004564A5	NM_004211.3	tolerated(0.05)		3/16		Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF158																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	20604338	20604338	T	C	1	0	0	0	0	1	0	0	0	14970	1580	55	5		5	SLC6A5	11	20604338	Missense_Mutation	SNP	T	C3N-01823_TP	1988266	20604338	114482284	283	27626											
NELL1	0	.	GRCh38	chr11	21229421	21229421	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacacagctgcacctgcaaaCcgggctacgtggggaacggg	10	4	15	12	3	0	0	0	0	0	0	0	2	0	1	2	4	6	4	2	4	3	1			C3N-01823_TP	C3N-01823_NB	C	C																c.1600C>A	p.Pro534Thr	p.P534T	ENST00000298925	15/21	296	266	30	210	210	0	strelka-varscan-mutect	NELL1,missense_variant,p.Pro534Thr,ENST00000298925,NM_001288713.1;NELL1,missense_variant,p.Pro449Thr,ENST00000325319,NM_001288714.1;NELL1,missense_variant,p.Pro506Thr,ENST00000357134,NM_006157.4;NELL1,missense_variant,p.Pro506Thr,ENST00000532434,NM_201551.2;NELL1,downstream_gene_variant,,ENST00000530672,;	A	ENST00000298925	Transcript	missense_variant	1753/3329	1600/2517	534/838	P/T	Ccg/Acg	COSM5613335	1		1	NELL1	HGNC	HGNC:7750	protein_coding	YES	CCDS73267.1	ENSP00000298925		J3KNC5	UPI0000228C6F	NM_001288713.1	deleterious(0.01)		15/21		Gene3D:2.10.25.10,Pfam_domain:PF12947,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	83	21229421	21229421	C	A	1	0	0	0	0	1	0	0	0	10364	507	18	2		2	NELL1	11	21229421	Missense_Mutation	SNP	C	C3N-01823_TP	625083	21229421	113857201	284	27627											
WT1	0	.	GRCh38	chr11	32435013	32435013	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccgtaagccgaagcgccCgggggcgcaaagtccagcac	10	2	14	15	5	0	0	0	0	0	0	1	2	1	0	4	2	3	3	4	2	3	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.333G>A	p.=	p.P111P	ENST00000332351	1/10	132	112	20	49	49	0	strelka-varscan-mutect	WT1,synonymous_variant,p.=,ENST00000332351,NM_024426.4;WT1,synonymous_variant,p.=,ENST00000452863,NM_000378.4;WT1,synonymous_variant,p.=,ENST00000448076,NM_024424.3;WT1,upstream_gene_variant,,ENST00000379079,NM_001198551.1;WT1,upstream_gene_variant,,ENST00000530998,NM_001198552.1;WT1-AS,upstream_gene_variant,,ENST00000395900,;WT1-AS,upstream_gene_variant,,ENST00000494911,;WT1-AS,upstream_gene_variant,,ENST00000525436,;WT1-AS,upstream_gene_variant,,ENST00000478367,;WT1-AS,upstream_gene_variant,,ENST00000442957,;WT1-AS,upstream_gene_variant,,ENST00000459866,;WT1-AS_7,upstream_gene_variant,,ENST00000426618,;WT1-AS_3,upstream_gene_variant,,ENST00000613262,;WT1-AS_2,upstream_gene_variant,,ENST00000613208,;WT1-AS,upstream_gene_variant,,ENST00000612620,;WT1-AS_6,upstream_gene_variant,,ENST00000614919,;WT1-AS_1,upstream_gene_variant,,ENST00000619639,;WT1-AS,upstream_gene_variant,,ENST00000615677,;WT1,synonymous_variant,p.=,ENST00000379077,;	T	ENST00000332351	Transcript	synonymous_variant	618/3122	333/1554	111/517	P	ccG/ccA		1		-1	WT1	HGNC	HGNC:12796	protein_coding	YES	CCDS7878.2	ENSP00000331327		J3KNN9	UPI0000D625D7	NM_024426.4			1/10		Low_complexity_(Seg):seg,Pfam_domain:PF02165,Prints_domain:PR00049																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	32435013	32435013	C	T	1	0	0	0	0	0	0	0	1	17965	639	23	1		1	WT1	11	32435013	Silent	SNP	C	C3N-01823_TP	11205592	32435013	102651609	285	27628											
HIPK3	0	.	GRCh38	chr11	33351745	33351745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacacagaattggtatcctCtgctgacacagaaaccaagc	16	7	7	11	0	1	3	0	1	1	2	2	3	2	3	2	1	4	2	2	1	5	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.2945C>G	p.Ser982Cys	p.S982C	ENST00000303296	15/17	479	440	39	337	337	0	strelka-varscan-mutect	HIPK3,missense_variant,p.Ser982Cys,ENST00000303296,NM_005734.4;HIPK3,missense_variant,p.Ser961Cys,ENST00000456517,NM_001278162.1;HIPK3,missense_variant,p.Ser961Cys,ENST00000379016,NM_001048200.2;HIPK3,missense_variant,p.Ser961Cys,ENST00000525975,NM_001278163.1;	G	ENST00000303296	Transcript	missense_variant	3250/7408	2945/3648	982/1215	S/C	tCt/tGt		1		1	HIPK3	HGNC	HGNC:4915	protein_coding	YES	CCDS7884.1	ENSP00000304226	Q9H422		UPI000006D7F8	NM_005734.4	tolerated(0.08)		15/17																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	83	33351745	33351745	C	G	1	0	0	0	0	1	0	0	0	7006	913	32	4		4	HIPK3	11	33351745	Missense_Mutation	SNP	C	C3N-01823_TP	916732	33351745	101734877	286	27629											
RAG1	0	.	GRCh38	chr11	36574817	36574817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttttcagcctttgcatGcccttcggaatgctgagaag	9	13	10	9	1	1	2	1	1	0	2	2	4	1	3	2	1	4	2	2	1	2	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1513G>T	p.Ala505Ser	p.A505S	ENST00000299440	2/2	483	413	70	302	302	0	strelka-varscan-mutect	RAG1,missense_variant,p.Ala505Ser,ENST00000299440,NM_000448.2;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,missense_variant,p.Ala505Ser,ENST00000534663,;	T	ENST00000299440	Transcript	missense_variant	1625/6564	1513/3132	505/1043	A/S	Gcc/Tcc		1		1	RAG1	HGNC	HGNC:9831	protein_coding	YES	CCDS7902.1	ENSP00000299440	P15918		UPI000013E5A0	NM_000448.2	tolerated_low_confidence(0.19)		2/2		Pfam_domain:PF12940,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0																	MODERATE	1	SNV	1			1										PASS		rs1255271221	.												T	3	4	83	36574817	36574817	G	T	1	0	0	0	0	1	0	0	0	13164	1319	46	2		2	RAG1	11	36574817	Missense_Mutation	SNP	G	C3N-01823_TP	3223072	36574817	98511805	287	27630											
SYT13	0	.	GRCh38	chr11	45246456	45246456	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaccaccaggaggcggttGgcagccgggaggtagctgat	9	5	17	10	2	0	1	0	1	0	0	0	3	0	3	3	6	3	5	3	6	1	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.903C>A	p.=	p.A301A	ENST00000020926	5/6	353	302	51	265	265	0	strelka-varscan-mutect	SYT13,synonymous_variant,p.=,ENST00000020926,NM_020826.2;SYT13,3_prime_UTR_variant,,ENST00000533332,;	T	ENST00000020926	Transcript	synonymous_variant	1015/5144	903/1281	301/426	A	gcC/gcA		1		-1	SYT13	HGNC	HGNC:14962	protein_coding	YES	CCDS31470.1	ENSP00000020926	Q7L8C5		UPI000003AC01	NM_020826.2			5/6		PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF250,Gene3D:2.60.40.150,Superfamily_domains:SSF49562																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	45246456	45246456	G	T	1	0	0	0	0	0	0	0	1	15863	1335	47	2		2	SYT13	11	45246456	Silent	SNP	G	C3N-01823_TP	8671639	45246456	89840166	288	27631											
SLC35C1	0	.	GRCh38	chr11	45810913	45810913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctcccggcggtggacGgcagcatctggcgcctgact	5	7	16	13	4	1	1	0	1	1	0	2	2	2	2	2	6	2	3	2	6	0	0	rs757393960		C3N-01823_TP	C3N-01823_NB	G	G																c.673G>T	p.Gly225Cys	p.G225C	ENST00000314134	2/2	553	501	52	372	372	0	strelka-varscan-mutect	SLC35C1,missense_variant,p.Gly225Cys,ENST00000314134,NM_018389.4;SLC35C1,missense_variant,p.Gly212Cys,ENST00000442528,NM_001145265.1,NM_001145266.1;SLC35C1,downstream_gene_variant,,ENST00000530471,;SLC35C1,downstream_gene_variant,,ENST00000526817,;CTD-2210P24.6,upstream_gene_variant,,ENST00000534128,;	T	ENST00000314134	Transcript	missense_variant	2069/4171	673/1095	225/364	G/C	Ggc/Tgc	rs757393960	1		1	SLC35C1	HGNC	HGNC:20197	protein_coding	YES	CCDS7914.1	ENSP00000313318	Q96A29	B3KQH0	UPI000012A5BB	NM_018389.4	deleterious(0.01)		2/2		hmmpanther:PTHR11132:SF96,hmmpanther:PTHR11132,Pfam_domain:PF03151																	MODERATE	1	SNV	1			1										PASS		rs757393960	.												T	3	4	83	45810913	45810913	G	T	1	0	0	0	0	1	0	0	0	14849	1116	39	1		1	SLC35C1	11	45810913	Missense_Mutation	SNP	G	C3N-01823_TP	564457	45810913	89275709	289	27632											
AGBL2	0	.	GRCh38	chr11	47690231	47690231	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagcaccttgaagacaaaAatatctctgaggagctgggc	14	7	12	8	0	1	3	0	2	1	1	2	5	1	5	1	3	2	2	1	3	5	2	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.1476T>A	p.=	p.I492I	ENST00000525123	10/19	281	256	25	184	184	0	strelka-varscan-mutect	AGBL2,synonymous_variant,p.=,ENST00000525123,NM_024783.3;AGBL2,synonymous_variant,p.=,ENST00000357610,;AGBL2,synonymous_variant,p.=,ENST00000528244,;AGBL2,downstream_gene_variant,,ENST00000532595,;AGBL2,non_coding_transcript_exon_variant,,ENST00000529712,;AGBL2,downstream_gene_variant,,ENST00000526331,;AGBL2,synonymous_variant,p.=,ENST00000528609,;	T	ENST00000525123	Transcript	synonymous_variant	1762/3577	1476/2709	492/902	I	atT/atA		1		-1	AGBL2	HGNC	HGNC:26296	protein_coding	YES	CCDS7944.1	ENSP00000435582	Q5U5Z8	A0A140VKH9	UPI00001A95E3	NM_024783.3			10/19		Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF19,Superfamily_domains:SSF53187																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	47690231	47690231	A	T	1	0	0	0	0	0	0	0	1	452	10	1	4		4	AGBL2	11	47690231	Silent	SNP	A	C3N-01823_TP	1879318	47690231	87396391	290	27633											
OR5D18	0	.	GRCh38	chr11	55819803	55819803	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaaccccaaactgcatacCcccatgtactttttcctcag	11	11	3	16	0	2	0	2	0	0	0	3	0	3	0	5	0	5	2	5	0	4	4	rs745941878		C3N-01823_TP	C3N-01823_NB	C	C																c.174C>G	p.=	p.T58T	ENST00000333976	1/1	169	131	38	98	98	0	strelka-varscan-mutect	OR5D18,synonymous_variant,p.=,ENST00000333976,NM_001001952.1;	G	ENST00000333976	Transcript	synonymous_variant	174/942	174/942	58/313	T	acC/acG	rs745941878	1		1	OR5D18	HGNC	HGNC:15285	protein_coding	YES	CCDS31510.1	ENSP00000335025	Q8NGL1		UPI0000046197	NM_001001952.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs745941878	.												G	2	3	83	55819803	55819803	C	G	1	0	0	0	0	0	0	0	1	11227	610	22	4		4	OR5D18	11	55819803	Silent	SNP	C	C3N-01823_TP	8129572	55819803	79266819	291	27634											
OR5D16	0	.	GRCh38	chr11	55838870	55838870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcagtctacggcttcaGtgtggtagggaatcttggga	7	12	15	7	1	4	0	1	0	3	0	4	2	4	2	0	5	1	3	0	5	3	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.119G>T	p.Ser40Ile	p.S40I	ENST00000378396	1/1	361	318	43	243	243	0	strelka-varscan-mutect	OR5D16,missense_variant,p.Ser40Ile,ENST00000378396,NM_001005496.1;	T	ENST00000378396	Transcript	missense_variant	119/987	119/987	40/328	S/I	aGt/aTt		1		1	OR5D16	HGNC	HGNC:15283	protein_coding	YES	CCDS31512.1	ENSP00000367649	Q8NGK9		UPI0000046198	NM_001005496.1	deleterious(0.02)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF243,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs1378718522	.												T	3	4	83	55838870	55838870	G	T	1	0	0	0	0	1	0	0	0	11226	1029	36	2		2	OR5D16	11	55838870	Missense_Mutation	SNP	G	C3N-01823_TP	19067	55838870	79247752	292	27635											
OR5T2	0	.	GRCh38	chr11	56232216	56232216	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtagatgacgggattcaGcaagggaatcacaatggtgt	13	9	13	6	1	2	2	2	1	0	1	2	4	2	4	0	3	1	2	0	3	4	2	rs567353421		C3N-01823_TP	C3N-01823_NB	G	G																c.970C>T	p.=	p.L324L	ENST00000313264	1/1	156	125	31	100	100	0	strelka-mutect	OR5T2,synonymous_variant,p.=,ENST00000313264,NM_001004746.1;	A	ENST00000313264	Transcript	synonymous_variant	970/1080	970/1080	324/359	L	Ctg/Ttg	rs567353421,COSM928276	1		-1	OR5T2	HGNC	HGNC:15296	protein_coding	YES	CCDS31523.1	ENSP00000323688	Q8NGG2		UPI0000061E97	NM_001004746.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF119,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237											0,1						LOW	1	SNV			0,1	1										PASS		rs567353421	.												A	2	1	83	56232216	56232216	G	A	1	0	0	0	0	0	0	0	1	11250	962	34	3		3	OR5T2	11	56232216	Silent	SNP	G	C3N-01823_TP	393346	56232216	78854406	293	27636											
OR5T2	0	.	GRCh38	chr11	56232776	56232776	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcaagaaacacctgtgctAcacatccaaggaatgaaatg	18	6	8	9	0	0	2	0	1	0	1	1	3	1	3	2	1	4	2	2	1	7	1	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.410T>C	p.Val137Ala	p.V137A	ENST00000313264	1/1	205	179	26	121	121	0	strelka-varscan-mutect	OR5T2,missense_variant,p.Val137Ala,ENST00000313264,NM_001004746.1;	G	ENST00000313264	Transcript	missense_variant	410/1080	410/1080	137/359	V/A	gTa/gCa		1		-1	OR5T2	HGNC	HGNC:15296	protein_coding	YES	CCDS31523.1	ENSP00000323688	Q8NGG2		UPI0000061E97	NM_001004746.1	tolerated(1)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF119,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	83	56232776	56232776	A	G	1	0	0	0	0	1	0	0	0	11250	391	14	5		5	OR5T2	11	56232776	Missense_Mutation	SNP	A	C3N-01823_TP	560	56232776	78853846	294	27637											
OR8H1	0	.	GRCh38	chr11	56290640	56290640	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagggcccagtgacaagagcGcaacacagccttttggacat	12	7	11	11	1	0	2	0	1	0	1	0	3	0	3	2	2	3	1	2	2	3	3	rs772055350		C3N-01823_TP	C3N-01823_NB	G	G																c.423C>A	p.Cys141Ter	p.C141*	ENST00000313022	1/1	227	187	40	147	147	0	strelka-varscan-mutect	OR8H1,stop_gained,p.Cys141Ter,ENST00000313022,NM_001005199.1;OR8H1,stop_gained,p.Cys137Ter,ENST00000610894,;	T	ENST00000313022	Transcript	stop_gained	451/1038	423/936	141/311	C/*	tgC/tgA	rs772055350	1		-1	OR8H1	HGNC	HGNC:14824	protein_coding	YES	CCDS31526.1	ENSP00000323595	Q8NGG4	A0A126GVW6	UPI0000041BC0	NM_001005199.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF11,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	HIGH	1	SNV				1										PASS		rs772055350	.												T	4	4	83	56290640	56290640	G	T	1	0	0	0	0	0	1	0	0	11305	1079	38	1		1	OR8H1	11	56290640	Nonsense_Mutation	SNP	G	C3N-01823_TP	57864	56290640	78795982	295	27638											
TNKS1BP1	0	.	GRCh38	chr11	57308990	57308990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggcctcctccctccccgaCctcagccaaatctttgctct	5	11	6	19	1	3	0	1	0	2	0	6	1	6	0	7	1	2	1	7	1	1	1	rs144018028		C3N-01823_TP	C3N-01823_NB	C	C																c.3721G>T	p.Val1241Phe	p.V1241F	ENST00000532437	5/11	327	277	50	173	173	0	strelka-varscan-mutect	TNKS1BP1,missense_variant,p.Val1241Phe,ENST00000532437,;TNKS1BP1,missense_variant,p.Val1241Phe,ENST00000358252,NM_033396.2;TNKS1BP1,downstream_gene_variant,,ENST00000530920,;TNKS1BP1,3_prime_UTR_variant,,ENST00000528882,;	A	ENST00000532437	Transcript	missense_variant	4033/5952	3721/5190	1241/1729	V/F	Gtc/Ttc	rs144018028	1		-1	TNKS1BP1	HGNC	HGNC:19081	protein_coding	YES	CCDS7951.1	ENSP00000437271	Q9C0C2	A0A024R542	UPI000013DB72		tolerated(0.06)		5/11		hmmpanther:PTHR22042,hmmpanther:PTHR22042:SF2																	MODERATE	1	SNV	1			1										PASS		rs144018028	.												A	3	1	83	57308990	57308990	C	A	1	0	0	0	0	1	0	0	0	16793	507	18	2		2	TNKS1BP1	11	57308990	Missense_Mutation	SNP	C	C3N-01823_TP	1018350	57308990	77777632	296	27639											
MS4A6E	0	.	GRCh38	chr11	60337893	60337893	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagacttcttctttcttaTgattatcattcaccttacac	10	17	2	12	0	5	2	2	1	3	1	5	2	5	2	2	0	1	0	2	0	3	7	rs2289613		C3N-01823_TP	C3N-01823_NB	T	T																c.300T>C	p.=	p.Y100Y	ENST00000300182	2/4	361	298	63	238	238	0	strelka-varscan-mutect	MS4A6E,synonymous_variant,p.=,ENST00000300182,NM_139249.2;MS4A6E,synonymous_variant,p.=,ENST00000532756,;MS4A6E,intron_variant,,ENST00000530509,;	C	ENST00000300182	Transcript	synonymous_variant	365/711	300/444	100/147	Y	taT/taC	rs2289613	1		1	MS4A6E	HGNC	HGNC:14285	protein_coding	YES	CCDS7984.1	ENSP00000300182	Q96DS6		UPI0000073D4C	NM_139249.2			2/4		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF46																	LOW	1	SNV	1			1										PASS		rs2289613	.												C	2	2	83	60337893	60337893	T	C	1	0	0	0	0	0	0	0	1	9844	1471	51	5		5	MS4A6E	11	60337893	Silent	SNP	T	C3N-01823_TP	3028903	60337893	74748729	297	27640											
MS4A12	0	.	GRCh38	chr11	60497349	60497349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagccaacaagccatgctGaagtaaatgaaaccataccc	17	5	6	13	0	0	2	0	2	0	0	0	2	0	2	5	0	6	2	5	0	8	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.31G>A	p.Glu11Lys	p.E11K	ENST00000016913	2/7	196	180	16	86	86	0	strelka-varscan-mutect	MS4A12,missense_variant,p.Glu11Lys,ENST00000016913,NM_017716.2;MS4A12,missense_variant,p.Glu11Lys,ENST00000537076,NM_001164470.1;MS4A12,missense_variant,p.Glu11Lys,ENST00000530007,;MS4A12,missense_variant,p.Glu11Lys,ENST00000526784,;MS4A12,non_coding_transcript_exon_variant,,ENST00000525951,;	A	ENST00000016913	Transcript	missense_variant	88/1167	31/804	11/267	E/K	Gaa/Aaa		1		1	MS4A12	HGNC	HGNC:13370	protein_coding	YES	CCDS7988.1	ENSP00000016913	Q9NXJ0		UPI000006D9F8	NM_017716.2	tolerated(1)		2/7		hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF72																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	60497349	60497349	G	A	1	0	0	0	0	1	0	0	0	9833	1291	45	3		3	MS4A12	11	60497349	Missense_Mutation	SNP	G	C3N-01823_TP	159456	60497349	74589273	298	27641											
TMEM132A	0	.	GRCh38	chr11	60927364	60927364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctgctcctacagccctgGcccagggcccagccacttct	5	10	8	18	0	2	0	0	0	2	0	3	0	3	0	5	2	4	1	5	2	1	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.261G>T	p.Trp87Cys	p.W87C	ENST00000005286	2/11	265	236	29	169	169	0	strelka-varscan-mutect	TMEM132A,missense_variant,p.Trp87Cys,ENST00000005286,NM_017870.3;TMEM132A,missense_variant,p.Trp87Cys,ENST00000453848,NM_178031.2;TMEM132A,5_prime_UTR_variant,,ENST00000544065,;TMEM109,downstream_gene_variant,,ENST00000227525,NM_024092.2;TMEM109,downstream_gene_variant,,ENST00000536171,;TMEM132A,upstream_gene_variant,,ENST00000536409,;RP11-881M11.4,upstream_gene_variant,,ENST00000543907,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000540276,;TMEM132A,downstream_gene_variant,,ENST00000543732,;TMEM109,downstream_gene_variant,,ENST00000540280,;TMEM132A,downstream_gene_variant,,ENST00000537110,;TMEM132A,downstream_gene_variant,,ENST00000537065,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000544098,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000534983,;	T	ENST00000005286	Transcript	missense_variant	414/3480	261/3075	87/1024	W/C	tgG/tgT		1		1	TMEM132A	HGNC	HGNC:31092	protein_coding	YES	CCDS7997.1	ENSP00000005286	Q24JP5		UPI0000190977	NM_017870.3	deleterious(0.03)		2/11		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF9,Pfam_domain:PF15705																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	83	60927364	60927364	G	T	1	0	0	0	0	1	0	0	0	16489	1212	42	2		2	TMEM132A	11	60927364	Missense_Mutation	SNP	G	C3N-01823_TP	430015	60927364	74159258	299	27642											
CD5	0	.	GRCh38	chr11	61121737	61121737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagccaggagctcgctgcGgtgggaggaggtgtgccggg	5	7	20	9	3	1	0	1	0	0	0	2	3	1	3	2	6	4	2	2	6	0	1	rs369071318		C3N-01823_TP	C3N-01823_NB	G	G																c.932G>C	p.Arg311Pro	p.R311P	ENST00000347785	6/11	96	90	6	57	57	0	strelka-mutect	CD5,missense_variant,p.Arg311Pro,ENST00000347785,NM_014207.3;CD5,downstream_gene_variant,,ENST00000544014,;	C	ENST00000347785	Transcript	missense_variant	1098/3221	932/1488	311/495	R/P	cGg/cCg	rs369071318	1		1	CD5	HGNC	HGNC:1685	protein_coding	YES	CCDS8000.1	ENSP00000342681	P06127		UPI000013D472	NM_014207.3	deleterious(0.02)		6/11		Gene3D:3.10.250.10,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF306,SMART_domains:SM00202,Superfamily_domains:SSF56487																	MODERATE	1	SNV	1			1										PASS		rs369071318	.												C	3	2	83	61121737	61121737	G	C	1	0	0	0	0	1	0	0	0	2725	1116	39	4		4	CD5	11	61121737	Missense_Mutation	SNP	G	C3N-01823_TP	194373	61121737	73964885	300	27643											
AHNAK	0	.	GRCh38	chr11	62526689	62526689	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaggcatggagatcttgggGgctttgatgttcatctctgg	6	14	14	7	0	4	2	2	1	2	1	5	3	4	2	0	5	0	3	0	5	0	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.7728C>A	p.=	p.A2576A	ENST00000378024	5/5	439	362	77	230	230	0	strelka-varscan-mutect	AHNAK,synonymous_variant,p.=,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	T	ENST00000378024	Transcript	synonymous_variant	8003/18787	7728/17673	2576/5890	A	gcC/gcA		1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2			5/5		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	83	62526689	62526689	G	T	1	0	0	0	0	0	0	0	1	491	1219	43	2		2	AHNAK	11	62526689	Silent	SNP	G	C3N-01823_TP	1404952	62526689	72559933	301	27644											
SLC22A24	0	.	GRCh38	chr11	63119076	63119076	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccggggcaatgtccactcTaagcctggaagaaaacatat	14	7	10	10	1	1	1	0	0	1	1	2	3	2	2	3	3	2	1	3	3	6	2	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.666A>C	p.Leu222Phe	p.L222F	ENST00000612278	4/10	158	147	11	82	82	0	strelka-varscan-mutect	SLC22A24,missense_variant,p.Leu222Phe,ENST00000612278,NM_001136506.2;SLC22A24,missense_variant,p.Leu222Phe,ENST00000417740,;SLC22A24,missense_variant,p.Leu222Phe,ENST00000326192,NM_173586.2;RPL29P22,upstream_gene_variant,,ENST00000498718,;	G	ENST00000612278	Transcript	missense_variant	1108/2101	666/1659	222/552	L/F	ttA/ttC		1		-1	SLC22A24	HGNC	HGNC:28542	protein_coding	YES	CCDS73308.1	ENSP00000480336		A0A087WWM3	UPI000004DAF7	NM_001136506.2	tolerated(0.12)		4/10		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF208,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	83	63119076	63119076	T	G	1	0	0	0	0	1	0	0	0	14718	1536	53	5		5	SLC22A24	11	63119076	Missense_Mutation	SNP	T	C3N-01823_TP	592387	63119076	71967546	302	27645											
CDC42BPG	0	.	GRCh38	chr11	64831704	64831704	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtggtgggcggcactgcCagctgggaggttgtcacctg	5	8	17	11	2	1	0	1	0	0	0	1	1	1	1	2	5	2	3	2	5	0	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.3105G>A	p.=	p.L1035L	ENST00000342711	28/37	167	155	12	83	83	0	strelka-varscan-mutect	CDC42BPG,synonymous_variant,p.=,ENST00000342711,NM_017525.2;CDC42BPG,non_coding_transcript_exon_variant,,ENST00000491280,;CDC42BPG,downstream_gene_variant,,ENST00000468512,;CDC42BPG,downstream_gene_variant,,ENST00000480767,;	T	ENST00000342711	Transcript	synonymous_variant	3105/5742	3105/4656	1035/1551	L	ctG/ctA		1		-1	CDC42BPG	HGNC	HGNC:29829	protein_coding	YES	CCDS31601.1	ENSP00000345133	Q6DT37		UPI000047C9E2	NM_017525.2			28/37		PROSITE_profiles:PS50003,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF22,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	64831704	64831704	C	T	1	0	0	0	0	0	0	0	1	2777	581	21	3		3	CDC42BPG	11	64831704	Silent	SNP	C	C3N-01823_TP	1712628	64831704	70254918	303	27646											
MRPL21	0	.	GRCh38	chr11	68891343	68891343	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtaatcacaacaaacaCggagcaatctcaatgctgtt	14	9	7	11	2	2	0	2	0	1	0	4	1	2	1	0	2	4	4	0	2	5	2	rs753260565		C3N-01823_TP	C3N-01823_NB	C	C																c.606G>T	p.=	p.P202P	ENST00000362034	7/7	298	259	39	235	235	0	strelka-varscan-mutect	MRPL21,synonymous_variant,p.=,ENST00000362034,NM_181514.1;MRPL21,synonymous_variant,p.=,ENST00000450904,NM_181515.1;MRPL21,downstream_gene_variant,,ENST00000567045,;MRPL21,3_prime_UTR_variant,,ENST00000565125,;MRPL21,3_prime_UTR_variant,,ENST00000541279,;MRPL21,downstream_gene_variant,,ENST00000544567,;MRPL21,downstream_gene_variant,,ENST00000541265,;	A	ENST00000362034	Transcript	synonymous_variant	616/683	606/618	202/205	P	ccG/ccT	rs753260565	1		-1	MRPL21	HGNC	HGNC:14479	protein_coding	YES	CCDS8186.1	ENSP00000354580	Q7Z2W9		UPI00001A95D2	NM_181514.1			7/7		hmmpanther:PTHR21349,hmmpanther:PTHR21349:SF0																	LOW	1	SNV	1			1										PASS		rs753260565	.												A	2	1	83	68891343	68891343	C	A	1	0	0	0	0	0	0	0	1	9762	523	19	1		1	MRPL21	11	68891343	Silent	SNP	C	C3N-01823_TP	4059639	68891343	66195279	304	27647											
GRM5	0	.	GRCh38	chr11	88849907	88849907	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttattatcactcaccTgcccagaagcagaaattctc	11	14	4	12	0	4	2	2	0	2	2	5	2	4	2	2	0	2	1	2	0	4	5	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.910A>T	p.Ser304Cys	p.S304C	ENST00000305447	2/9	260	222	38	141	141	0	strelka-varscan-mutect	GRM5,missense_variant,p.Ser304Cys,ENST00000455756,NM_000842.4;GRM5,missense_variant,p.Ser304Cys,ENST00000305447,NM_001143831.2;GRM5,missense_variant,p.Ser304Cys,ENST00000305432,;	A	ENST00000305447	Transcript	missense_variant,splice_region_variant	1060/4571	910/3639	304/1212	S/C	Agt/Tgt		1		-1	GRM5	HGNC	HGNC:4597	protein_coding	YES	CCDS44694.1	ENSP00000306138	P41594		UPI000012F081	NM_001143831.2	deleterious(0)		2/9		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	88849907	88849907	T	A	1	0	0	0	0	1	0	0	0	6682	1594	55	4		4	GRM5	11	88849907	Missense_Mutation	SNP	T	C3N-01823_TP	19958564	88849907	46236715	305	27648											
NOX4	0	.	GRCh38	chr11	89373431	89373431	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaactgtatgttctacataCctgtccagtctcctactatt	11	15	4	11	0	2	0	0	0	2	0	4	0	3	0	3	0	4	2	3	0	7	7	rs201165492		C3N-01823_TP	C3N-01823_NB	C	C																c.1135+1G>T		p.X379_splice	ENST00000263317		104	87	17	127	126	1	strelka-varscan-mutect	NOX4,splice_donor_variant,,ENST00000424319,NM_001291926.1;NOX4,splice_donor_variant,,ENST00000343727,NM_001291927.1;NOX4,splice_donor_variant,,ENST00000263317,NM_016931.4;NOX4,splice_donor_variant,,ENST00000527956,NM_001143837.1;NOX4,splice_donor_variant,,ENST00000534731,NM_001143836.2;NOX4,splice_donor_variant,,ENST00000532825,NM_001300995.1;NOX4,splice_donor_variant,,ENST00000528341,NM_001291929.1;NOX4,splice_donor_variant,,ENST00000527626,;NOX4,splice_donor_variant,,ENST00000375979,;NOX4,splice_donor_variant,,ENST00000531342,;NOX4,intron_variant,,ENST00000525196,;NOX4,splice_donor_variant,,ENST00000529343,;	A	ENST00000263317	Transcript	splice_donor_variant	-/2388	1135/1737	379/578			rs201165492	1		-1	NOX4	HGNC	HGNC:7891	protein_coding	YES	CCDS8285.1	ENSP00000263317	Q9NPH5		UPI000045655B	NM_016931.4				12/17																		HIGH	1	SNV	1			1										PASS		rs201165492	.												A	5	1	83	89373431	89373431	C	A	1	0	0	0	0	0	0	1	0	10604	521	18	2		2	NOX4	11	89373431	Splice_Site	SNP	C	C3N-01823_TP	523524	89373431	45713191	306	27649											
MED17	0	.	GRCh38	chr11	93809746	93809746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccaggtacatgcagttcaGcaactcgccaaggttatggg	11	8	11	11	1	1	0	1	0	0	0	2	0	1	0	2	3	4	5	2	3	4	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1614G>T	p.Gln538His	p.Q538H	ENST00000251871	11/12	704	599	105	447	446	1	strelka-varscan-mutect	MED17,missense_variant,p.Gln538His,ENST00000251871,NM_004268.4;MED17,non_coding_transcript_exon_variant,,ENST00000533367,;MED17,non_coding_transcript_exon_variant,,ENST00000525613,;MED17,non_coding_transcript_exon_variant,,ENST00000529626,;MED17,non_coding_transcript_exon_variant,,ENST00000531920,;MED17,intron_variant,,ENST00000533133,;	T	ENST00000251871	Transcript	missense_variant	1901/4874	1614/1956	538/651	Q/H	caG/caT		1		1	MED17	HGNC	HGNC:2375	protein_coding	YES	CCDS8295.1	ENSP00000251871	Q9NVC6		UPI000013CD1D	NM_004268.4	tolerated(0.13)		11/12		hmmpanther:PTHR13114																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	93809746	93809746	G	T	1	0	0	0	0	1	0	0	0	9374	962	34	2		2	MED17	11	93809746	Missense_Mutation	SNP	G	C3N-01823_TP	4436315	93809746	41276876	307	27650											
IZUMO1R	0	.	GRCh38	chr11	94307484	94307484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccattacttccccacccCagctgacctgtgtgagaaga	9	9	7	16	0	0	3	0	2	0	2	2	4	2	3	6	0	2	1	6	0	2	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.545C>A	p.Pro182Gln	p.P182Q	ENST00000328458	4/4	410	339	71	250	249	1	strelka-varscan-mutect	IZUMO1R,missense_variant,p.Pro175Gln,ENST00000440961,;IZUMO1R,missense_variant,p.Pro182Gln,ENST00000328458,NM_001199206.1;	A	ENST00000328458	Transcript	missense_variant	590/798	545/753	182/250	P/Q	cCa/cAa		1		1	IZUMO1R	HGNC	HGNC:32565	protein_coding	YES		ENSP00000332963		J3KNP7	UPI00003D6FE9	NM_001199206.1			4/4		Pfam_domain:PF03024,hmmpanther:PTHR10517,hmmpanther:PTHR10517:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	83	94307484	94307484	C	A	1	0	0	0	0	1	0	0	0	7840	594	21	2		2	IZUMO1R	11	94307484	Missense_Mutation	SNP	C	C3N-01823_TP	497738	94307484	40779138	308	27651											
IZUMO1R	0	.	GRCh38	chr11	94307609	94307609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccaatgtggccgtggccCgcctcttcgccagctctgcc	4	8	10	19	3	2	0	0	0	2	0	3	0	2	0	7	2	2	1	7	2	1	1	rs373997875		C3N-01823_TP	C3N-01823_NB	C	C																c.670C>A	p.Arg224Ser	p.R224S	ENST00000328458	4/4	445	376	69	251	251	0	strelka-varscan-mutect	IZUMO1R,missense_variant,p.Arg217Ser,ENST00000440961,;IZUMO1R,missense_variant,p.Arg224Ser,ENST00000328458,NM_001199206.1;	A	ENST00000328458	Transcript	missense_variant	715/798	670/753	224/250	R/S	Cgc/Agc	rs373997875	1		1	IZUMO1R	HGNC	HGNC:32565	protein_coding	YES		ENSP00000332963		J3KNP7	UPI00003D6FE9	NM_001199206.1			4/4		hmmpanther:PTHR10517,hmmpanther:PTHR10517:SF10																	MODERATE	1	SNV	5			1										PASS		rs373997875	.												A	3	1	83	94307609	94307609	C	A	1	0	0	0	0	1	0	0	0	7840	652	23	1		1	IZUMO1R	11	94307609	Missense_Mutation	SNP	C	C3N-01823_TP	125	94307609	40779013	309	27652											
CNTN5	0	.	GRCh38	chr11	99845173	99845173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcattataagcaatccaaGtgaagcaaaggattctggtc	14	11	8	8	0	2	1	1	1	1	0	4	2	3	2	1	2	2	2	1	2	6	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.488G>T	p.Ser163Ile	p.S163I	ENST00000524871	6/25	218	177	41	166	166	0	strelka-varscan-mutect	CNTN5,missense_variant,p.Ser163Ile,ENST00000524871,NM_014361.3;CNTN5,missense_variant,p.Ser147Ile,ENST00000279463,;CNTN5,missense_variant,p.Ser85Ile,ENST00000619298,;CNTN5,missense_variant,p.Ser163Ile,ENST00000527185,NM_001243271.1;CNTN5,missense_variant,p.Ser163Ile,ENST00000528682,NM_001243270.1;CNTN5,missense_variant,p.Ser89Ile,ENST00000418526,NM_175566.2;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;	T	ENST00000524871	Transcript	missense_variant	778/6258	488/3303	163/1100	S/I	aGt/aTt		1		1	CNTN5	HGNC	HGNC:2175	protein_coding	YES	CCDS53696.1	ENSP00000435637	O94779		UPI000006DAB0	NM_014361.3	deleterious(0.03)		6/25		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	99845173	99845173	G	T	1	0	0	0	0	1	0	0	0	3425	1029	36	2		2	CNTN5	11	99845173	Missense_Mutation	SNP	G	C3N-01823_TP	5537564	99845173	35241449	310	27653											
PGR	0	.	GRCh38	chr11	101128784	101128784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactagaactgctgcctccaGcaccccttgtagcttcagct	8	10	8	15	0	1	1	1	0	0	1	2	2	2	1	4	0	6	5	4	0	3	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.287C>G	p.Ala96Gly	p.A96G	ENST00000325455	1/8	642	559	83	409	409	0	strelka-varscan-mutect	PGR,missense_variant,p.Ala96Gly,ENST00000325455,NM_000926.4,NM_001202474.3;PGR,missense_variant,p.Ala96Gly,ENST00000619228,;PGR,missense_variant,p.Ala96Gly,ENST00000617858,;PGR,missense_variant,p.Ala96Gly,ENST00000263463,NM_001271161.2;PGR,intron_variant,,ENST00000534013,NM_001271162.1;PGR,upstream_gene_variant,,ENST00000632634,;RP11-788M5.4,upstream_gene_variant,,ENST00000632820,;PGR,missense_variant,p.Ala96Gly,ENST00000534780,;PGR,missense_variant,p.Ala96Gly,ENST00000528960,;PGR,missense_variant,p.Ala96Gly,ENST00000526300,;	C	ENST00000325455	Transcript	missense_variant	1741/13748	287/2802	96/933	A/G	gCt/gGt		1		-1	PGR	HGNC	HGNC:8910	protein_coding	YES	CCDS8310.1	ENSP00000325120	P06401		UPI0000046E22	NM_000926.4,NM_001202474.3	tolerated_low_confidence(0.14)		1/8		hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF7,Pfam_domain:PF02161																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	101128784	101128784	G	C	1	0	0	0	0	1	0	0	0	11894	971	34	4		4	PGR	11	101128784	Missense_Mutation	SNP	G	C3N-01823_TP	1283611	101128784	33957838	311	27654											
OR6X1	0	.	GRCh38	chr11	123754378	123754378	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcctgggctcagcccaCacagtggcaataataagccc	11	7	10	13	0	1	0	1	0	0	0	1	0	1	0	3	2	3	3	3	2	4	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.141G>A	p.=	p.V47V	ENST00000327930	1/1	180	157	23	149	149	0	strelka-varscan-mutect	OR6X1,synonymous_variant,p.=,ENST00000327930,NM_001005188.1;	T	ENST00000327930	Transcript	synonymous_variant	168/1058	141/939	47/312	V	gtG/gtA		1		-1	OR6X1	HGNC	HGNC:14737	protein_coding	YES	CCDS31695.1	ENSP00000333724	Q8NH79	A0A126GVM0	UPI000004B1D5	NM_001005188.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF30,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												T	2	4	83	123754378	123754378	C	T	1	0	0	0	0	0	0	0	1	11282	465	17	3		3	OR6X1	11	123754378	Silent	SNP	C	C3N-01823_TP	22625594	123754378	11332244	312	27655											
OR8B4	0	.	GRCh38	chr11	124424312	124424312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgacatgggtgctggtgcagGagagctgcaagagggggaga	10	6	20	5	0	0	4	0	1	0	3	0	6	0	4	0	5	4	4	0	5	1	0			C3N-01823_TP	C3N-01823_NB	G	G																c.560C>G	p.Ser187Cys	p.S187C	ENST00000356130	1/1	342	321	21	253	253	0	strelka-varscan-mutect	OR8B4,missense_variant,p.Ser187Cys,ENST00000356130,NM_001005196.1;	C	ENST00000356130	Transcript	missense_variant	582/990	560/930	187/309	S/C	tCc/tGc	COSM231267	1		-1	OR8B4	HGNC	HGNC:8473	protein_coding	YES	CCDS31710.1	ENSP00000348449	Q96RC9		UPI00000015B0	NM_001005196.1	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF208,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245											1						MODERATE	1	SNV			1	1										PASS		.	.												C	3	2	83	124424312	124424312	G	C	1	0	0	0	0	1	0	0	0	11299	1174	41	4		4	OR8B4	11	124424312	Missense_Mutation	SNP	G	C3N-01823_TP	669934	124424312	10662310	313	27656											
WNK1	0	.	GRCh38	chr12	896329	896329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaaggttggacgttttcagGtgacaactacagcaaacaaa	15	8	9	9	1	1	1	1	1	0	0	1	2	1	2	1	3	4	3	1	3	5	4	rs774379842		C3N-01823_TP	C3N-01823_NB	G	G																c.6598G>T	p.Val2200Leu	p.V2200L	ENST00000340908	24/28	782	662	120	444	444	0	strelka-varscan-mutect	WNK1,missense_variant,p.Val2361Leu,ENST00000530271,;WNK1,missense_variant,p.Val2208Leu,ENST00000537687,NM_001184985.1;WNK1,missense_variant,p.Val2200Leu,ENST00000340908,NM_213655.4;WNK1,missense_variant,p.Val1948Leu,ENST00000315939,NM_018979.3;WNK1,missense_variant,p.Val1700Leu,ENST00000535572,NM_014823.2;WNK1,upstream_gene_variant,,ENST00000544559,;WNK1,upstream_gene_variant,,ENST00000543065,;WNK1,upstream_gene_variant,,ENST00000542424,;WNK1,upstream_gene_variant,,ENST00000537603,;	T	ENST00000340908	Transcript	missense_variant	7241/11208	6598/7905	2200/2634	V/L	Gtg/Ttg	rs774379842	1		1	WNK1	HGNC	HGNC:14540	protein_coding	YES	CCDS73419.1	ENSP00000341292	Q9H4A3		UPI0001DD21C4	NM_213655.4	deleterious(0)		24/28		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF46																	MODERATE	1	SNV	5			1										PASS		rs774379842	.												T	3	4	83	896329	896329	G	T	1	0	0	0	0	1	0	0	0	17933	1261	44	2		2	WNK1	12	896329	Missense_Mutation	SNP	G	C3N-01823_TP		896329	132378980	314	27657											
KCNA5	0	.	GRCh38	chr12	5044656	5044656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcttcgaccgcaaccggcCcagcttcgacggtatcctct	6	10	8	17	5	2	0	0	0	2	0	5	2	3	0	4	2	2	3	4	2	2	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.509C>A	p.Pro170His	p.P170H	ENST00000252321	1/1	519	399	120	259	259	0	strelka-varscan-mutect	KCNA5,missense_variant,p.Pro170His,ENST00000252321,NM_002234.3;	A	ENST00000252321	Transcript	missense_variant	668/2800	509/1842	170/613	P/H	cCc/cAc		1		1	KCNA5	HGNC	HGNC:6224	protein_coding	YES	CCDS8536.1	ENSP00000252321	P22460		UPI000013CD56	NM_002234.3	deleterious(0)		1/1		Gene3D:3.30.710.10,Pfam_domain:PF02214,Prints_domain:PR00169,Prints_domain:PR01491,Prints_domain:PR01496,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	83	5044656	5044656	C	A	1	0	0	0	0	1	0	0	0	7922	623	22	2		2	KCNA5	12	5044656	Missense_Mutation	SNP	C	C3N-01823_TP	4148327	5044656	128230653	315	27658											
KLRG1	0	.	GRCh38	chr12	9009053	9009053	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctggaggtgggaagatGgatcacctctaaacttctca	10	10	12	9	0	3	1	2	0	2	1	4	4	3	4	1	5	1	1	1	5	3	2			C3N-01823_TP	C3N-01823_NB	G	G																c.436G>T	p.Gly146Ter	p.G146*	ENST00000356986	4/5	281	242	39	176	175	1	strelka-varscan-mutect	KLRG1,stop_gained,p.Gly146Ter,ENST00000266551,;KLRG1,stop_gained,p.Gly146Ter,ENST00000356986,NM_005810.3;KLRG1,stop_gained,p.Gly67Ter,ENST00000539240,;KLRG1,stop_gained,p.Gly67Ter,ENST00000543895,;KLRG1,non_coding_transcript_exon_variant,,ENST00000538029,;KLRG1,non_coding_transcript_exon_variant,,ENST00000544226,;	T	ENST00000356986	Transcript	stop_gained	531/1206	436/570	146/189	G/*	Gga/Tga	COSM5470101,COSM5470102	1		1	KLRG1	HGNC	HGNC:6380	protein_coding	YES	CCDS8599.1	ENSP00000349477	Q96E93		UPI000006D8A7	NM_005810.3			4/5		PROSITE_profiles:PS50041,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF166,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												T	4	4	83	9009053	9009053	G	T	1	0	0	0	0	0	1	0	0	8291	1349	47	2		2	KLRG1	12	9009053	Nonsense_Mutation	SNP	G	C3N-01823_TP	3964397	9009053	124266256	316	27659											
KLRC3	0	.	GRCh38	chr12	10420464	10420464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcggttcctgaaatggaGcttttattgcctttaggttt	6	19	10	6	1	0	1	0	1	0	0	2	2	1	2	2	3	2	4	2	3	3	8	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.87C>A	p.Ser29Arg	p.S29R	ENST00000381903	1/6	184	158	26	129	129	0	strelka-varscan-mutect	KLRC3,missense_variant,p.Ser29Arg,ENST00000396439,NM_002261.2;KLRC3,missense_variant,p.Ser29Arg,ENST00000381903,NM_007333.2;RP11-277P12.6,intron_variant,,ENST00000539033,;	T	ENST00000381903	Transcript	missense_variant	87/798	87/774	29/257	S/R	agC/agA		1		-1	KLRC3	HGNC	HGNC:6376	protein_coding	YES	CCDS31744.1	ENSP00000371328	Q07444		UPI00001AF2AC	NM_007333.2	tolerated(0.06)		1/6		hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF174																	MODERATE		SNV	2			1										PASS		rs775775420	.												T	3	4	83	10420464	10420464	G	T	1	0	0	0	0	1	0	0	0	8286	962	34	2		2	KLRC3	12	10420464	Missense_Mutation	SNP	G	C3N-01823_TP	1411411	10420464	122854845	317	27660											
PIK3C2G	0	.	GRCh38	chr12	18291003	18291003	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacacaacctcttcattttAtgccatgtggtaagcaacct	12	12	5	12	0	2	0	1	0	1	0	2	0	2	0	3	1	5	2	3	1	5	4	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.910A>G	p.Met304Val	p.M304V	ENST00000538779	4/33	130	80	50	84	84	0	strelka-varscan-mutect	PIK3C2G,missense_variant,p.Met304Val,ENST00000538779,NM_001288772.1,NM_001288774.1;PIK3C2G,missense_variant,p.Met304Val,ENST00000433979,NM_004570.5;PIK3C2G,missense_variant,p.Met304Val,ENST00000266497,;PIK3C2G,missense_variant,p.Met304Val,ENST00000535651,;PIK3C2G,missense_variant,p.Met96Val,ENST00000536967,;RERGL,intron_variant,,ENST00000541632,;PIK3C2G,3_prime_UTR_variant,,ENST00000546003,;	G	ENST00000538779	Transcript	missense_variant	1026/4963	910/4461	304/1486	M/V	Atg/Gtg		1		1	PIK3C2G	HGNC	HGNC:8973	protein_coding	YES	CCDS73452.1	ENSP00000445381		F5H369	UPI00020655D2	NM_001288772.1,NM_001288774.1	deleterious(0.03)		4/33		PROSITE_profiles:PS51546,hmmpanther:PTHR10048:SF29,hmmpanther:PTHR10048,Pfam_domain:PF00794,Gene3D:3.10.20.90,Superfamily_domains:SSF54236																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	83	18291003	18291003	A	G	1	0	0	0	0	1	0	0	0	12006	449	16	5		5	PIK3C2G	12	18291003	Missense_Mutation	SNP	A	C3N-01823_TP	7870539	18291003	114984306	318	27661											
OVCH1	0	.	GRCh38	chr12	29471909	29471909	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgccatggccaacagtgGgggcaggcttcttcccctcc	6	8	11	16	0	1	0	0	0	1	0	3	0	3	0	6	4	2	2	6	4	1	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1749C>A	p.=	p.P583P	ENST00000318184	16/28	427	371	56	236	236	0	strelka-varscan-mutect	OVCH1,synonymous_variant,p.=,ENST00000318184,NM_183378.2;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;	T	ENST00000318184	Transcript	synonymous_variant	1749/3405	1749/3405	583/1134	P	ccC/ccA		1		-1	OVCH1	HGNC	HGNC:23080	protein_coding	YES		ENSP00000326708	Q7RTY7		UPI000040640A	NM_183378.2			16/28		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24251,hmmpanther:PTHR24251:SF17,SMART_domains:SM00020,Superfamily_domains:SSF50494																	LOW	1	SNV	2			1										PASS		rs929481308	.												T	2	4	83	29471909	29471909	G	T	1	0	0	0	0	0	0	0	1	11393	1219	43	2		2	OVCH1	12	29471909	Silent	SNP	G	C3N-01823_TP	11180906	29471909	103803400	319	27662											
DENND5B	0	.	GRCh38	chr12	31451992	31451992	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccaggattccatgtccTgggcagtctgaatgacaaat	11	10	10	10	0	2	2	1	2	1	0	4	3	4	3	3	2	1	1	3	2	2	1	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.1682A>C	p.Gln561Pro	p.Q561P	ENST00000536562	7/23	387	341	46	158	158	0	strelka-varscan-mutect	DENND5B,missense_variant,p.Gln526Pro,ENST00000389082,NM_144973.3;DENND5B,missense_variant,p.Gln561Pro,ENST00000536562,NM_001308339.1;DENND5B,missense_variant,p.Gln548Pro,ENST00000354285,;DENND5B,missense_variant,p.Gln478Pro,ENST00000546299,;	G	ENST00000536562	Transcript	missense_variant	1833/4291	1682/3930	561/1309	Q/P	cAg/cCg		1		-1	DENND5B	HGNC	HGNC:28338	protein_coding	YES	CCDS76542.1	ENSP00000444889		G3V1S3	UPI0000D621CB	NM_001308339.1	tolerated(0.19)		7/23		PROSITE_profiles:PS50947,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF45,SMART_domains:SM00801																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	83	31451992	31451992	T	G	1	0	0	0	0	1	0	0	0	4241	1580	55	5		5	DENND5B	12	31451992	Missense_Mutation	SNP	T	C3N-01823_TP	1980083	31451992	101823317	320	27663											
PDZRN4	0	.	GRCh38	chr12	41573658	41573658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagcagcgccgtcgccGtgagttcatgatgcgaagca	11	6	13	11	5	1	3	1	2	0	1	2	4	1	3	2	0	4	3	2	0	2	1	rs748727154		C3N-01823_TP	C3N-01823_NB	G	G																c.2879G>T	p.Arg960Leu	p.R960L	ENST00000402685	10/10	416	210	206	117	117	0	strelka-varscan-mutect	PDZRN4,missense_variant,p.Arg700Leu,ENST00000298919,;PDZRN4,missense_variant,p.Arg960Leu,ENST00000402685,NM_001164595.1;PDZRN4,missense_variant,p.Arg702Leu,ENST00000539469,NM_013377.3;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;	T	ENST00000402685	Transcript	missense_variant	2887/3347	2879/3111	960/1036	R/L	cGt/cTt	rs748727154,COSM3398706,COSM3398707,COSM3398708	1		1	PDZRN4	HGNC	HGNC:30552	protein_coding	YES	CCDS53777.1	ENSP00000384197	Q6ZMN7		UPI0000D621D0	NM_001164595.1	deleterious(0)		10/10		hmmpanther:PTHR15545,hmmpanther:PTHR15545:SF6,Low_complexity_(Seg):seg											0,1,1,1						MODERATE	1	SNV	2		0,1,1,1	1										PASS		rs748727154	.												T	3	4	83	41573658	41573658	G	T	1	0	0	0	0	1	0	0	0	11798	1145	40	1		1	PDZRN4	12	41573658	Missense_Mutation	SNP	G	C3N-01823_TP	10121666	41573658	91701651	321	27664											
NELL2	0	.	GRCh38	chr12	44508948	44508948	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaacttcacagttcctgaaGgcactgtggatccactgagc	10	11	9	11	0	1	2	1	2	0	0	3	3	3	3	2	2	2	2	2	2	2	3	rs770135751		C3N-01823_TP	C3N-01823_NB	G	G																c.2587C>G	p.Leu863Val	p.L863V	ENST00000437801	21/21	402	348	54	183	183	0	strelka-varscan-mutect	NELL2,missense_variant,p.Leu813Val,ENST00000429094,NM_001145108.1;NELL2,missense_variant,p.Leu863Val,ENST00000437801,NM_001145107.1;NELL2,missense_variant,p.Leu812Val,ENST00000395487,NM_001145109.1;NELL2,missense_variant,p.Leu813Val,ENST00000452445,NM_006159.2;NELL2,missense_variant,p.Leu765Val,ENST00000551601,;NELL2,missense_variant,p.Leu812Val,ENST00000549027,;NELL2,missense_variant,p.Leu836Val,ENST00000333837,NM_001145110.1;	C	ENST00000437801	Transcript	missense_variant	2959/3279	2587/2601	863/866	L/V	Ctt/Gtt	rs770135751	1		-1	NELL2	HGNC	HGNC:7751	protein_coding	YES	CCDS44863.1	ENSP00000416341	Q99435		UPI000191537D	NM_001145107.1	deleterious(0.05)		21/21		hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF0,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	2			1										PASS		rs770135751	.												C	3	2	83	44508948	44508948	G	C	1	0	0	0	0	1	0	0	0	10365	1000	35	4		4	NELL2	12	44508948	Missense_Mutation	SNP	G	C3N-01823_TP	2935290	44508948	88766361	322	27665											
KMT2D	0	.	GRCh38	chr12	49037815	49037815	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccaaaggaggccttctCagctgtgtgcccactgctag	7	8	12	14	0	1	0	1	0	1	0	2	1	1	1	4	3	3	2	4	3	2	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.9541G>T	p.Glu3181Ter	p.E3181*	ENST00000301067	34/54	385	333	52	182	182	0	strelka-varscan-mutect	KMT2D,stop_gained,p.Glu3181Ter,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,downstream_gene_variant,,ENST00000549799,;	A	ENST00000301067	Transcript	stop_gained	9541/19419	9541/16614	3181/5537	E/*	Gag/Tag		1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3			34/54																			HIGH	1	SNV	5			1										PASS		rs797045672	.												A	4	1	83	49037815	49037815	C	A	1	0	0	0	0	0	1	0	0	8298	835	29	2		2	KMT2D	12	49037815	Nonsense_Mutation	SNP	C	C3N-01823_TP	4528867	49037815	84237494	323	27666											
SLC11A2	0	.	GRCh38	chr12	50988397	50988397	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccgtatgcccacagtcCaggaaggacatgcccagtgc	10	7	10	14	1	0	0	0	0	0	0	1	2	1	2	4	2	4	1	4	2	3	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1701G>T	p.=	p.L567L	ENST00000394904	16/16	443	370	73	228	228	0	strelka-varscan-mutect	SLC11A2,synonymous_variant,p.=,ENST00000394904,NM_001174125.1;SLC11A2,synonymous_variant,p.=,ENST00000262052,NM_000617.2,NM_001174128.1;SLC11A2,synonymous_variant,p.=,ENST00000262051,NM_001174126.1,NM_001174127.1;SLC11A2,synonymous_variant,p.=,ENST00000547198,;SLC11A2,synonymous_variant,p.=,ENST00000541174,NM_001174129.1;SLC11A2,synonymous_variant,p.=,ENST00000547688,;SLC11A2,synonymous_variant,p.=,ENST00000545993,NM_001174130.1;SLC11A2,synonymous_variant,p.=,ENST00000546743,;SLC11A2,synonymous_variant,p.=,ENST00000546636,;SLC11A2,synonymous_variant,p.=,ENST00000551215,;SLC11A2,non_coding_transcript_exon_variant,,ENST00000550782,;SLC11A2,downstream_gene_variant,,ENST00000551231,;SLC11A2,downstream_gene_variant,,ENST00000548554,;	A	ENST00000394904	Transcript	synonymous_variant	1751/4156	1701/1773	567/590	L	ctG/ctT		1		-1	SLC11A2	HGNC	HGNC:10908	protein_coding	YES	CCDS53793.1	ENSP00000378364	P49281		UPI00001FC234	NM_001174125.1			16/16		hmmpanther:PTHR11706:SF40,hmmpanther:PTHR11706																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	83	50988397	50988397	C	A	1	0	0	0	0	0	0	0	1	14646	581	21	2		2	SLC11A2	12	50988397	Silent	SNP	C	C3N-01823_TP	1950582	50988397	82286912	324	27667											
KRT72	0	.	GRCh38	chr12	52591491	52591491	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtacagggtctcagcctcGgccttgctctttagggcaat	6	12	12	11	1	2	0	1	0	2	0	4	0	2	0	2	4	3	3	2	4	3	4	rs778544219		C3N-01823_TP	C3N-01823_NB	G	G																c.936C>A	p.=	p.A312A	ENST00000293745	5/9	123	105	18	43	43	0	strelka-varscan-mutect	KRT72,synonymous_variant,p.=,ENST00000293745,NM_080747.2;KRT72,synonymous_variant,p.=,ENST00000537672,NM_001146225.1;KRT72,synonymous_variant,p.=,ENST00000354310,NM_001146226.1;KRT72,3_prime_UTR_variant,,ENST00000550829,;	T	ENST00000293745	Transcript	synonymous_variant	1022/2015	936/1536	312/511	A	gcC/gcA	rs778544219	1		-1	KRT72	HGNC	HGNC:28932	protein_coding	YES	CCDS8833.1	ENSP00000293745	Q14CN4		UPI0000055AC8	NM_080747.2			5/9		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF86,SMART_domains:SM01391																	LOW	1	SNV	1			1										PASS		rs778544219	.												T	2	4	83	52591491	52591491	G	T	1	0	0	0	0	0	0	0	1	8367	1103	39	1		1	KRT72	12	52591491	Silent	SNP	G	C3N-01823_TP	1603094	52591491	80683818	325	27668											
INHBE	0	.	GRCh38	chr12	57456682	57456682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattgctgcctctttccattCtgccgtcttcagcctcctca	4	15	5	17	1	5	0	2	0	3	0	7	0	7	0	5	0	4	1	5	0	0	4			C3N-01823_TP	C3N-01823_NB	C	C																c.887C>T	p.Ser296Phe	p.S296F	ENST00000266646	2/2	366	335	31	154	154	0	strelka-varscan-mutect	INHBE,missense_variant,p.Ser296Phe,ENST00000266646,NM_031479.3;INHBE,missense_variant,p.Ser241Phe,ENST00000547970,;GLI1,upstream_gene_variant,,ENST00000228682,NM_005269.2;GLI1,upstream_gene_variant,,ENST00000546141,NM_001167609.1;GLI1,upstream_gene_variant,,ENST00000543426,NM_001160045.1;GLI1,upstream_gene_variant,,ENST00000532291,;GLI1,upstream_gene_variant,,ENST00000528432,;INHBE,non_coding_transcript_exon_variant,,ENST00000551553,;INHBE,downstream_gene_variant,,ENST00000553033,;GLI1,upstream_gene_variant,,ENST00000530789,;	T	ENST00000266646	Transcript	missense_variant	1103/2429	887/1053	296/350	S/F	tCt/tTt	COSM344196	1		1	INHBE	HGNC	HGNC:24029	protein_coding	YES	CCDS8939.1	ENSP00000266646	P58166		UPI000012D42C	NM_031479.3	deleterious(0)		2/2		PROSITE_profiles:PS51362,hmmpanther:PTHR11848:SF6,hmmpanther:PTHR11848,Gene3D:2.10.90.10,Pfam_domain:PF00019,SMART_domains:SM00204,Superfamily_domains:SSF57501											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	83	57456682	57456682	C	T	1	0	0	0	0	1	0	0	0	7646	913	32	3		3	INHBE	12	57456682	Missense_Mutation	SNP	C	C3N-01823_TP	4865191	57456682	75818627	326	27669											
METTL21B	0	.	GRCh38	chr12	57772895	57772895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggtggcggcgcgcgtgtgGgacgcggtgaggaatgggct	4	6	24	7	6	0	1	0	1	0	0	0	3	0	3	0	8	0	1	0	8	1	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.171G>T	p.Trp57Cys	p.W57C	ENST00000300209	1/3	163	135	28	72	72	0	strelka-varscan-mutect	METTL21B,missense_variant,p.Trp57Cys,ENST00000333012,NM_206914.1;METTL21B,missense_variant,p.Trp57Cys,ENST00000300209,NM_015433.2;METTL21B,intron_variant,,ENST00000551420,;METTL21B,intron_variant,,ENST00000548256,;METTL1,upstream_gene_variant,,ENST00000324871,NM_005371.5;METTL1,upstream_gene_variant,,ENST00000257848,NM_023033.3;METTL1,upstream_gene_variant,,ENST00000547653,;CYP27B1,upstream_gene_variant,,ENST00000546609,;RP11-571M6.15,upstream_gene_variant,,ENST00000546504,;METTL1,upstream_gene_variant,,ENST00000548504,;METTL21B,non_coding_transcript_exon_variant,,ENST00000552307,;METTL1,upstream_gene_variant,,ENST00000548681,;RP11-571M6.15,upstream_gene_variant,,ENST00000553083,;METTL1,upstream_gene_variant,,ENST00000553125,;RP11-571M6.15,upstream_gene_variant,,ENST00000471530,;METTL1,upstream_gene_variant,,ENST00000549773,;METTL1,upstream_gene_variant,,ENST00000551117,;	T	ENST00000300209	Transcript	missense_variant	296/2563	171/681	57/226	W/C	tgG/tgT		1		1	METTL21B	HGNC	HGNC:24936	protein_coding	YES	CCDS8957.1	ENSP00000300209	Q96AZ1		UPI000006CEB5	NM_015433.2	deleterious(0)		1/3		Gene3D:3.40.50.150,Pfam_domain:PF10294,hmmpanther:PTHR14614,hmmpanther:PTHR14614:SF5,Superfamily_domains:SSF53335																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	57772895	57772895	G	T	1	0	0	0	0	1	0	0	0	9446	1241	43	2		2	METTL21B	12	57772895	Missense_Mutation	SNP	G	C3N-01823_TP	316213	57772895	75502414	327	27670											
SRGAP1	0	.	GRCh38	chr12	64108996	64108996	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgactttgcccaggtcGgtccttatagtgatgaggta	7	13	11	10	1	0	3	0	3	0	0	3	3	2	3	3	3	1	1	3	3	3	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1878G>T	p.=	p.S626S	ENST00000355086	16/22	134	108	26	68	67	1	strelka-varscan-mutect	SRGAP1,synonymous_variant,p.=,ENST00000355086,NM_020762.2;SRGAP1,synonymous_variant,p.=,ENST00000631006,;SRGAP1,synonymous_variant,p.=,ENST00000543397,;RP11-196H14.4,non_coding_transcript_exon_variant,,ENST00000535806,;SRGAP1,upstream_gene_variant,,ENST00000537585,;	T	ENST00000355086	Transcript	synonymous_variant	2402/23331	1878/3258	626/1085	S	tcG/tcT		1		1	SRGAP1	HGNC	HGNC:17382	protein_coding	YES	CCDS8967.1	ENSP00000347198	Q7Z6B7		UPI00001A9CB9	NM_020762.2			16/22		PROSITE_profiles:PS50238,hmmpanther:PTHR14166:SF15,hmmpanther:PTHR14166,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350																	LOW	1	SNV	1			1										PASS		rs1199429320	.												T	2	4	83	64108996	64108996	G	T	1	0	0	0	0	0	0	0	1	15504	1103	39	1		1	SRGAP1	12	64108996	Silent	SNP	G	C3N-01823_TP	6336101	64108996	69166313	328	27671											
RAB3IP	0	.	GRCh38	chr12	69755582	69755582	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctatccaggcaaatgcattAgatgtttctgaacttcctac	11	13	6	11	0	1	2	0	1	1	1	3	2	3	2	3	1	3	3	3	1	5	5	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.222A>T	p.Leu74Phe	p.L74F	ENST00000550536	2/11	469	335	134	275	275	0	strelka-varscan-mutect	RAB3IP,missense_variant,p.Leu74Phe,ENST00000550536,NM_175623.3;RAB3IP,missense_variant,p.Leu58Phe,ENST00000247833,NM_022456.4;RAB3IP,missense_variant,p.Leu58Phe,ENST00000378815,;RAB3IP,missense_variant,p.Leu74Phe,ENST00000362025,NM_175625.3;RAB3IP,missense_variant,p.Leu58Phe,ENST00000483530,NM_175624.3;RAB3IP,missense_variant,p.Leu58Phe,ENST00000549760,;RAB3IP,upstream_gene_variant,,ENST00000550647,;RAB3IP,upstream_gene_variant,,ENST00000547055,;RAB3IP,missense_variant,p.Leu74Phe,ENST00000378809,;RAB3IP,missense_variant,p.Leu74Phe,ENST00000552199,;RAB3IP,missense_variant,p.Leu58Phe,ENST00000417413,;RAB3IP,3_prime_UTR_variant,,ENST00000547591,;	T	ENST00000550536	Transcript	missense_variant	679/9646	222/1431	74/476	L/F	ttA/ttT		1		1	RAB3IP	HGNC	HGNC:16508	protein_coding	YES	CCDS8993.1	ENSP00000447300	Q96QF0		UPI000006EB02	NM_175623.3	deleterious_low_confidence(0)		2/11		hmmpanther:PTHR14430,hmmpanther:PTHR14430:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	69755582	69755582	A	T	1	0	0	0	0	1	0	0	0	13097	417	15	4		4	RAB3IP	12	69755582	Missense_Mutation	SNP	A	C3N-01823_TP	5646586	69755582	63519727	329	27672											
NAV3	0	.	GRCh38	chr12	77831668	77831668	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatttggagagaagaaaccCctccaaggaaaagccaagga	18	4	11	8	0	0	2	0	0	0	2	1	7	1	5	4	3	2	0	4	3	7	1			C3N-01823_TP	C3N-01823_NB	C	C																c.207C>A	p.=	p.P69P	ENST00000397909	1/40	128	96	32	94	94	0	strelka-varscan-mutect	NAV3,synonymous_variant,p.=,ENST00000397909,NM_001024383.1;NAV3,synonymous_variant,p.=,ENST00000536525,NM_014903.5;NAV3,synonymous_variant,p.=,ENST00000549464,;NAV3,intron_variant,,ENST00000550042,;	A	ENST00000397909	Transcript	synonymous_variant	380/9821	207/7158	69/2385	P	ccC/ccA	COSM317664,COSM5657066	1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1			1/40		Superfamily_domains:SSF47576											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	83	77831668	77831668	C	A	1	0	0	0	0	0	0	0	1	10194	610	22	2		2	NAV3	12	77831668	Silent	SNP	C	C3N-01823_TP	8076086	77831668	55443641	330	27673											
OTOGL	0	.	GRCh38	chr12	80222221	80222221	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgcaaaggactgtggtgaTttggagcctcggtacactgt	8	13	13	7	1	0	1	0	1	0	0	1	3	0	3	1	4	3	2	1	4	2	3	rs778218262		C3N-01823_TP	C3N-01823_NB	T	T																c.438T>G	p.Asp146Glu	p.D146E	ENST00000458043	6/58	176	163	13	131	131	0	strelka-varscan-mutect	OTOGL,missense_variant,p.Asp146Glu,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Asp146Glu,ENST00000547103,;	G	ENST00000458043	Transcript	missense_variant	444/8083	438/7035	146/2344	D/E	gaT/gaG	rs778218262	1		1	OTOGL	HGNC	HGNC:26901	protein_coding	YES		ENSP00000400895		A0A0A0MSS2	UPI0001D089C5	NM_173591.3	tolerated(1)		6/58		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF225,Pfam_domain:PF00094,SMART_domains:SM00216																	MODERATE	1	SNV	5			1										PASS		rs778218262	.												G	3	3	83	80222221	80222221	T	G	1	0	0	0	0	1	0	0	0	11371	1490	52	5		5	OTOGL	12	80222221	Missense_Mutation	SNP	T	C3N-01823_TP	2390553	80222221	53053088	331	27674											
OTOGL	0	.	GRCh38	chr12	80252180	80252180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagcaatctccattgtcttGatggatgttactgcccagat	9	13	10	9	0	2	2	0	1	2	1	3	4	2	4	2	2	3	2	2	2	2	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1237G>A	p.Asp413Asn	p.D413N	ENST00000458043	12/58	164	136	28	131	131	0	strelka-varscan-mutect	OTOGL,missense_variant,p.Asp413Asn,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Asp413Asn,ENST00000547103,;	A	ENST00000458043	Transcript	missense_variant	1243/8083	1237/7035	413/2344	D/N	Gat/Aat		1		1	OTOGL	HGNC	HGNC:26901	protein_coding	YES		ENSP00000400895		A0A0A0MSS2	UPI0001D089C5	NM_173591.3	deleterious(0)		12/58		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF225,Gene3D:2.10.25.10,Superfamily_domains:SSF57567																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	83	80252180	80252180	G	A	1	0	0	0	0	1	0	0	0	11371	1290	45	3		3	OTOGL	12	80252180	Missense_Mutation	SNP	G	C3N-01823_TP	29959	80252180	53023129	332	27675											
PWP1	0	.	GRCh38	chr12	107692864	107692864	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcttacggtctacgggagtAatgatcaagatccttacgtt	10	13	10	8	3	3	2	1	1	2	1	4	3	4	3	1	2	3	2	1	2	5	5	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.370A>T	p.Asn124Tyr	p.N124Y	ENST00000412830	4/15	217	201	16	201	201	0	strelka-varscan-mutect	PWP1,missense_variant,p.Asn124Tyr,ENST00000412830,NM_001317962.1,NM_007062.1;PWP1,missense_variant,p.Asn62Tyr,ENST00000541166,;PWP1,missense_variant,p.Asn62Tyr,ENST00000547995,;PWP1,missense_variant,p.Asn124Tyr,ENST00000552760,;PWP1,non_coding_transcript_exon_variant,,ENST00000547120,;	T	ENST00000412830	Transcript	missense_variant	538/2621	370/1506	124/501	N/Y	Aat/Tat		1		1	PWP1	HGNC	HGNC:17015	protein_coding	YES	CCDS9114.1	ENSP00000387365	Q13610	A0A024RBH5	UPI0000132B9C	NM_001317962.1,NM_007062.1	deleterious(0)		4/15		hmmpanther:PTHR14091																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	107692864	107692864	A	T	1	0	0	0	0	1	0	0	0	12997	362	13	4		4	PWP1	12	107692864	Missense_Mutation	SNP	A	C3N-01823_TP	27440684	107692864	25582445	333	27676											
TBX5	0	.	GRCh38	chr12	114403751	114403751	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgaagcgcgaggtctccttaCctgctgggtgaaggcggcct	6	8	15	12	4	1	1	0	1	1	0	2	3	1	1	3	4	3	1	3	4	3	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.147+1G>T		p.X49_splice	ENST00000310346		193	174	19	105	105	0	strelka-varscan-mutect	TBX5,splice_donor_variant,,ENST00000310346,NM_000192.3;TBX5,splice_donor_variant,,ENST00000405440,NM_181486.2;TBX5,splice_donor_variant,,ENST00000526441,;TBX5,intron_variant,,ENST00000349716,NM_080717.2;TBX5-AS1,upstream_gene_variant,,ENST00000532697,;TBX5-AS1,upstream_gene_variant,,ENST00000531202,;TBX5-AS1,upstream_gene_variant,,ENST00000531024,;TBX5,splice_donor_variant,,ENST00000552726,;	A	ENST00000310346	Transcript	splice_donor_variant	-/3825	147/1557	49/518				1		-1	TBX5	HGNC	HGNC:11604	protein_coding	YES	CCDS9173.1	ENSP00000309913	Q99593		UPI0000136AA2	NM_000192.3				2/8																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	83	114403751	114403751	C	A	1	0	0	0	0	0	0	1	0	16065	521	18	2		2	TBX5	12	114403751	Splice_Site	SNP	C	C3N-01823_TP	6710887	114403751	18871558	334	27677											
KSR2	0	.	GRCh38	chr12	117761042	117761042	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctcgtccacgcggtgccCcagctggaactcgtgggatt	5	8	14	14	4	0	0	0	0	0	0	3	2	1	2	4	4	3	1	4	4	1	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.868G>T	p.Gly290Trp	p.G290W	ENST00000425217	4/20	381	301	80	311	310	1	strelka-varscan-mutect	KSR2,missense_variant,p.Gly319Trp,ENST00000339824,;KSR2,missense_variant,p.Gly290Trp,ENST00000425217,NM_173598.4;	A	ENST00000425217	Transcript	missense_variant	923/17008	868/2766	290/921	G/W	Ggg/Tgg		1		-1	KSR2	HGNC	HGNC:18610	protein_coding	YES	CCDS61250.1	ENSP00000389715		E9PB13	UPI000164FA1C	NM_173598.4	deleterious(0)		4/20																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	83	117761042	117761042	C	A	1	0	0	0	0	1	0	0	0	8481	623	22	2		2	KSR2	12	117761042	Missense_Mutation	SNP	C	C3N-01823_TP	3357291	117761042	15514267	335	27678											
DHX37	0	.	GRCh38	chr12	124954178	124954178	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgggcccgcttgctcttCagcctggtgagctcctcgtc	3	10	11	17	3	2	1	1	1	1	0	5	1	3	1	4	2	3	3	4	2	0	2			C3N-01823_TP	C3N-01823_NB	C	C																c.2487G>T	p.=	p.L829L	ENST00000308736	19/27	103	84	19	74	74	0	strelka-varscan-mutect	DHX37,synonymous_variant,p.=,ENST00000308736,NM_032656.3;DHX37,synonymous_variant,p.=,ENST00000544745,;DHX37,non_coding_transcript_exon_variant,,ENST00000539298,;DHX37,upstream_gene_variant,,ENST00000542400,;	A	ENST00000308736	Transcript	synonymous_variant	2586/4550	2487/3474	829/1157	L	ctG/ctT	COSM1511280	1		-1	DHX37	HGNC	HGNC:17210	protein_coding	YES	CCDS9261.1	ENSP00000311135	Q8IY37		UPI00000742DC	NM_032656.3			19/27		hmmpanther:PTHR18934:SF99,hmmpanther:PTHR18934,Pfam_domain:PF04408,SMART_domains:SM00847,Superfamily_domains:SSF52540											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	83	124954178	124954178	C	A	1	0	0	0	0	0	0	0	1	4314	813	29	2		2	DHX37	12	124954178	Silent	SNP	C	C3N-01823_TP	7193136	124954178	8321131	336	27679											
BRCA2	0	.	GRCh38	chr13	32332637	32332637	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgacaaaatctccaaggaaGttgtaccgtctttggcctgt	10	12	10	9	1	2	1	0	1	2	0	3	2	2	2	3	2	1	2	3	2	5	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1159G>C	p.Val387Leu	p.V387L	ENST00000380152	10/27	237	222	15	175	175	0	strelka-varscan-mutect	BRCA2,missense_variant,p.Val387Leu,ENST00000380152,;BRCA2,missense_variant,p.Val387Leu,ENST00000544455,NM_000059.3;BRCA2,non_coding_transcript_exon_variant,,ENST00000614259,;BRCA2,non_coding_transcript_exon_variant,,ENST00000530893,;	C	ENST00000380152	Transcript	missense_variant	1392/11986	1159/10257	387/3418	V/L	Gtt/Ctt		1		1	BRCA2	HGNC	HGNC:1101	protein_coding	YES	CCDS9344.1	ENSP00000369497	P51587		UPI00001FCBCC		tolerated(0.38)		10/27		hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,PIRSF_domain:PIRSF002397																	MODERATE	1	SNV	5			1										PASS		rs869320791	.												C	3	2	83	32332637	32332637	G	C	1	0	0	0	0	1	0	0	0	1669	1029	36	4		4	BRCA2	13	32332637	Missense_Mutation	SNP	G	C3N-01823_TP		32332637	82031691	337	27680											
PCDH17	0	.	GRCh38	chr13	57634372	57634372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggctatctggtgagcaCtgtgcgcgccctagacagcg	6	8	14	13	3	1	2	0	1	1	1	1	2	1	2	2	2	3	2	2	2	2	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1826C>A	p.Thr609Asn	p.T609N	ENST00000377918	1/4	348	311	37	177	177	0	strelka-varscan-mutect	PCDH17,missense_variant,p.Thr609Asn,ENST00000377918,NM_001040429.2;PCDH17,upstream_gene_variant,,ENST00000612954,;PCDH17,upstream_gene_variant,,ENST00000615375,;RP11-95F22.1,upstream_gene_variant,,ENST00000610846,;PCDH17,missense_variant,p.Thr609Asn,ENST00000484979,;	A	ENST00000377918	Transcript	missense_variant	2561/8232	1826/3480	609/1159	T/N	aCt/aAt		1		1	PCDH17	HGNC	HGNC:14267	protein_coding	YES	CCDS31986.1	ENSP00000367151	O14917		UPI00001FCE5B	NM_001040429.2	tolerated(0.11)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	57634372	57634372	C	A	1	0	0	0	0	1	0	0	0	11599	565	20	2		2	PCDH17	13	57634372	Missense_Mutation	SNP	C	C3N-01823_TP	25301735	57634372	56729956	338	27681											
KLHL1	0	.	GRCh38	chr13	69701763	69701763	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatattcaaggaagccatcTgttaaaaaagatgaaacaca	20	8	6	7	0	2	2	1	1	1	1	2	3	2	3	1	1	2	1	1	1	8	3	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.2188-2A>C		p.X730_splice	ENST00000377844		160	130	30	136	136	0	strelka-varscan-mutect	KLHL1,splice_acceptor_variant,,ENST00000377844,NM_020866.2;KLHL1,splice_acceptor_variant,,ENST00000545028,NM_001286725.1;	G	ENST00000377844	Transcript	splice_acceptor_variant	-/4115	2188/2247	730/748				1		-1	KLHL1	HGNC	HGNC:6352	protein_coding	YES	CCDS9445.1	ENSP00000367075	Q9NR64		UPI000004B136	NM_020866.2				10/10																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	83	69701763	69701763	T	G	1	0	0	0	0	0	0	1	0	8229	1594	55	5		5	KLHL1	13	69701763	Splice_Site	SNP	T	C3N-01823_TP	12067391	69701763	44662565	339	27682											
F7	0	.	GRCh38	chr13	113110805	113110805	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcaaggaggagcagtgCtccttcgaggaggcccggga	9	5	18	9	2	0	0	0	0	0	0	2	6	1	4	2	5	3	3	2	5	1	1	rs771676411		C3N-01823_TP	C3N-01823_NB	C	C																c.246C>A	p.Cys82Ter	p.C82*	ENST00000375581	3/9	317	284	33	192	192	0	strelka-varscan-mutect	F7,stop_gained,p.Cys82Ter,ENST00000375581,NM_000131.4;F7,stop_gained,p.Cys60Ter,ENST00000346342,NM_019616.3;F7,intron_variant,,ENST00000541084,NM_001267554.1;F7,non_coding_transcript_exon_variant,,ENST00000473085,;F7,missense_variant,p.Leu56Ile,ENST00000444337,;F7,non_coding_transcript_exon_variant,,ENST00000479674,;	A	ENST00000375581	Transcript	stop_gained	281/3109	246/1401	82/466	C/*	tgC/tgA	rs771676411	1		1	F7	HGNC	HGNC:3544	protein_coding	YES	CCDS9528.1	ENSP00000364731	P08709		UPI000012A414	NM_000131.4			3/9		Gene3D:4.10.740.10,Pfam_domain:PF00594,PIRSF_domain:PIRSF001143,Prints_domain:PR00001,PROSITE_patterns:PS00011,PROSITE_profiles:PS50998,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF212,SMART_domains:SM00069,Superfamily_domains:SSF57630																	HIGH	1	SNV	1			1										PASS		rs771676411	.												A	4	1	83	113110805	113110805	C	A	1	0	0	0	0	0	1	0	0	5217	805	28	2		2	F7	13	113110805	Nonsense_Mutation	SNP	C	C3N-01823_TP	43409042	113110805	1253523	340	27683											
OR4Q3	0	.	GRCh38	chr14	19747787	19747787	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgctgacagtcatggcCtatgacaggtatgttgccat	8	15	10	8	0	1	2	1	2	0	0	1	2	1	2	2	2	2	3	2	2	2	5	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.360C>A	p.=	p.A120A	ENST00000331723	1/1	378	356	22	293	292	1	varscan-mutect	OR4Q3,synonymous_variant,p.=,ENST00000331723,NM_172194.1;OR4N2,intron_variant,,ENST00000557414,;	A	ENST00000331723	Transcript	synonymous_variant	360/942	360/942	120/313	A	gcC/gcA		1		1	OR4Q3	HGNC	HGNC:15426	protein_coding	YES	CCDS32020.1	ENSP00000330049	Q8NH05	A0A126GW32	UPI0000061EF0	NM_172194.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF208,hmmpanther:PTHR26451,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		rs986568323	.												A	2	1	83	19747787	19747787	C	A	1	0	0	0	0	0	0	0	1	11157	668	24	2		2	OR4Q3	14	19747787	Silent	SNP	C	C3N-01823_TP		19747787	87295931	341	27684											
OR11G2	0	.	GRCh38	chr14	20197983	20197983	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggattattgaccacttcctAtgtgacccagctcctcttct	8	14	6	13	0	2	2	0	2	2	0	4	3	4	3	4	1	1	1	4	1	2	5	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.648A>T	p.=	p.L216L	ENST00000357366	1/1	452	396	56	301	301	0	strelka-varscan-mutect	OR11G2,synonymous_variant,p.=,ENST00000357366,NM_001005503.1;	T	ENST00000357366	Transcript	synonymous_variant	648/1111	648/1038	216/345	L	ctA/ctT		1		1	OR11G2	HGNC	HGNC:15346	protein_coding	YES	CCDS32032.1	ENSP00000349930	Q8NGC1		UPI000015F241	NM_001005503.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF183,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	LOW	1	SNV				1										PASS		rs1340888666	.												T	2	4	83	20197983	20197983	A	T	1	0	0	0	0	0	0	0	1	11001	436	16	4		4	OR11G2	14	20197983	Silent	SNP	A	C3N-01823_TP	450196	20197983	86845735	342	27685											
TEP1	0	.	GRCh38	chr14	20403763	20403763	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgtctcttggcccggTgcttccgagggttgtactta	3	13	16	9	2	1	0	0	0	1	0	3	1	2	0	2	5	2	3	2	5	2	5	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.1154A>C	p.His385Pro	p.H385P	ENST00000262715	6/55	332	313	19	262	262	0	strelka-varscan-mutect	TEP1,missense_variant,p.His385Pro,ENST00000262715,NM_007110.4;TEP1,intron_variant,,ENST00000556935,;TEP1,downstream_gene_variant,,ENST00000556549,;TEP1,missense_variant,p.His385Pro,ENST00000555727,;TEP1,non_coding_transcript_exon_variant,,ENST00000557627,;	G	ENST00000262715	Transcript	missense_variant	1195/10695	1154/7884	385/2627	H/P	cAc/cCc		1		-1	TEP1	HGNC	HGNC:11726	protein_coding	YES	CCDS9548.1	ENSP00000262715	Q99973		UPI000013D30B	NM_007110.4	deleterious(0)		6/55		Low_complexity_(Seg):seg,PROSITE_profiles:PS50988,Pfam_domain:PF05731																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	83	20403763	20403763	T	G	1	0	0	0	0	1	0	0	0	16175	1696	59	5		5	TEP1	14	20403763	Missense_Mutation	SNP	T	C3N-01823_TP	205780	20403763	86639955	343	27686											
MYH7	0	.	GRCh38	chr14	23423641	23423641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catccagagcctgttggtggGcctcttgcagagctttcttc	5	13	11	12	0	2	2	0	0	2	2	4	2	3	2	3	2	3	3	3	2	0	4	rs569520562		C3N-01823_TP	C3N-01823_NB	G	G																c.3005C>A	p.Ala1002Asp	p.A1002D	ENST00000355349	24/40	556	454	102	329	329	0	strelka-varscan-mutect	MYH7,missense_variant,p.Ala1002Asp,ENST00000355349,NM_000257.3;	T	ENST00000355349	Transcript	missense_variant	3168/6087	3005/5808	1002/1935	A/D	gCc/gAc	rs569520562	1		-1	MYH7	HGNC	HGNC:7577	protein_coding	YES	CCDS9601.1	ENSP00000347507	P12883		UPI000014019B	NM_000257.3	deleterious(0)		24/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF413,Superfamily_domains:SSF90257																	MODERATE	1	SNV	1			1										PASS		rs569520562	.												T	3	4	83	23423641	23423641	G	T	1	0	0	0	0	1	0	0	0	10039	1203	42	2		2	MYH7	14	23423641	Missense_Mutation	SNP	G	C3N-01823_TP	3019878	23423641	83620077	344	27687											
MBIP	0	.	GRCh38	chr14	36320513	36320513	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtagagcacctctcgggAgaggttgggtctgcatcttc	6	12	13	10	2	3	2	0	0	3	2	6	3	3	2	1	3	2	4	1	3	1	4	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.76T>A	p.Ser26Thr	p.S26T	ENST00000416007	1/9	596	542	54	175	174	1	strelka-varscan-mutect	MBIP,missense_variant,p.Ser26Thr,ENST00000621657,;MBIP,missense_variant,p.Ser26Thr,ENST00000416007,NM_016586.2;MBIP,missense_variant,p.Ser26Thr,ENST00000318473,NM_001144891.1;MBIP,missense_variant,p.Ser26Thr,ENST00000359527,NM_001308110.1;MBIP,missense_variant,p.Ser23Thr,ENST00000605579,;MBIP,missense_variant,p.Ser26Thr,ENST00000604336,;MBIP,missense_variant,p.Ser26Thr,ENST00000603139,;MBIP,upstream_gene_variant,,ENST00000604160,;RP11-964E11.3,upstream_gene_variant,,ENST00000634305,;	T	ENST00000416007	Transcript	missense_variant	164/1648	76/1035	26/344	S/T	Tcc/Acc		1		-1	MBIP	HGNC	HGNC:20427	protein_coding	YES	CCDS9658.1	ENSP00000399718	Q9NS73		UPI00001FD419	NM_016586.2	tolerated_low_confidence(0.43)		1/9		hmmpanther:PTHR23404,hmmpanther:PTHR23404:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	36320513	36320513	A	T	1	0	0	0	0	1	0	0	0	9281	304	11	4		4	MBIP	14	36320513	Missense_Mutation	SNP	A	C3N-01823_TP	12896872	36320513	70723205	345	27688											
RAD51B	0	.	GRCh38	chr14	67885881	67885881	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccacagactggttgaaatAgcagaatcccgttttcccag	12	9	8	12	1	0	3	0	1	0	2	2	3	2	3	3	1	1	3	3	1	3	4	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.465A>T	p.=	p.I155I	ENST00000487270	6/11	64	53	11	68	68	0	strelka-varscan-mutect	RAD51B,synonymous_variant,p.=,ENST00000487270,NM_133509.3;RAD51B,synonymous_variant,p.=,ENST00000487861,NM_002877.5;RAD51B,synonymous_variant,p.=,ENST00000488612,;RAD51B,synonymous_variant,p.=,ENST00000471583,NM_133510.3;RAD51B,synonymous_variant,p.=,ENST00000390683,;RAD51B,non_coding_transcript_exon_variant,,ENST00000553595,;RAD51B,non_coding_transcript_exon_variant,,ENST00000555907,;RAD51B,non_coding_transcript_exon_variant,,ENST00000553734,;RAD51B,upstream_gene_variant,,ENST00000469165,;RAD51B,upstream_gene_variant,,ENST00000460526,;RAD51B,upstream_gene_variant,,ENST00000554244,;RAD51B,upstream_gene_variant,,ENST00000478014,;RAD51B,upstream_gene_variant,,ENST00000497460,;RAD51B,upstream_gene_variant,,ENST00000492236,;RAD51B,3_prime_UTR_variant,,ENST00000479335,NM_001321817.1;RAD51B,non_coding_transcript_exon_variant,,ENST00000474051,;	T	ENST00000487270	Transcript	synonymous_variant	513/2596	465/1155	155/384	I	atA/atT		1		1	RAD51B	HGNC	HGNC:9822	protein_coding	YES	CCDS9789.1	ENSP00000419471	O15315		UPI0000073AB0	NM_133509.3			6/11		PROSITE_profiles:PS50162,hmmpanther:PTHR22942:SF15,hmmpanther:PTHR22942,PIRSF_domain:PIRSF005856,Gene3D:3.40.50.300,Pfam_domain:PF08423,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	67885881	67885881	A	T	1	0	0	0	0	0	0	0	1	13149	410	15	4		4	RAD51B	14	67885881	Silent	SNP	A	C3N-01823_TP	31565368	67885881	39157837	346	27689											
ADCK1	0	.	GRCh38	chr14	77933330	77933330	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcatcctgcgtgtgaaggGgttgaagctggctgaccggg	6	9	17	9	2	1	3	1	3	0	0	2	3	2	3	2	4	2	4	2	4	2	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1511G>C	p.Gly504Ala	p.G504A	ENST00000238561	11/11	232	194	38	195	195	0	strelka-varscan-mutect	ADCK1,missense_variant,p.Gly504Ala,ENST00000238561,NM_020421.3;ADCK1,missense_variant,p.Gly436Ala,ENST00000341211,NM_001142545.1;ADCK1,non_coding_transcript_exon_variant,,ENST00000556560,;ADCK1,non_coding_transcript_exon_variant,,ENST00000555217,;	C	ENST00000238561	Transcript	missense_variant	1610/2234	1511/1572	504/523	G/A	gGg/gCg		1		1	ADCK1	HGNC	HGNC:19038	protein_coding	YES	CCDS9869.1	ENSP00000238561	Q86TW2		UPI000014035F	NM_020421.3	tolerated(0.15)		11/11																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	77933330	77933330	G	C	1	0	0	0	0	1	0	0	0	331	1232	43	4		4	ADCK1	14	77933330	Missense_Mutation	SNP	G	C3N-01823_TP	10047449	77933330	29110388	347	27690											
ASB2	0	.	GRCh38	chr14	93956856	93956856	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgggccggcgaactctcaGgaggtgcagtggacctggag	7	5	17	12	3	1	0	1	0	1	0	2	4	1	3	3	6	2	1	3	6	1	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.221C>G	p.Pro74Arg	p.P74R	ENST00000555019	3/10	260	246	14	196	196	0	strelka-varscan-mutect	ASB2,missense_variant,p.Pro74Arg,ENST00000555019,NM_001202429.1;ASB2,missense_variant,p.Pro26Arg,ENST00000315988,NM_016150.4;ASB2,5_prime_UTR_variant,,ENST00000555287,;ASB2,intron_variant,,ENST00000557613,;ASB2,upstream_gene_variant,,ENST00000555507,;ASB2,upstream_gene_variant,,ENST00000556062,;ASB2,intron_variant,,ENST00000556337,;ASB2,non_coding_transcript_exon_variant,,ENST00000556793,;	C	ENST00000555019	Transcript	missense_variant	652/2842	221/1908	74/635	P/R	cCt/cGt		1		-1	ASB2	HGNC	HGNC:16012	protein_coding	YES	CCDS55940.1	ENSP00000451575	Q96Q27	A0A024R6E7	UPI000013D23C	NM_001202429.1	tolerated(0.25)		3/10																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	93956856	93956856	G	C	1	0	0	0	0	1	0	0	0	1165	1000	35	4		4	ASB2	14	93956856	Missense_Mutation	SNP	G	C3N-01823_TP	16023526	93956856	13086862	348	27691											
SERPINA6	0	.	GRCh38	chr14	94309906	94309906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgaaggtaactgatggtGctcgactgcaacatcatggg	11	10	12	8	1	2	2	2	2	0	0	3	3	2	2	0	3	4	3	0	3	3	1			C3N-01823_TP	C3N-01823_NB	G	G																c.714C>A	p.Ser238Arg	p.S238R	ENST00000341584	3/5	492	467	25	355	354	1	strelka-varscan-mutect	SERPINA6,missense_variant,p.Ser238Arg,ENST00000341584,NM_001756.3;SERPINA6,downstream_gene_variant,,ENST00000557225,;SERPINA6,3_prime_UTR_variant,,ENST00000555056,;	T	ENST00000341584	Transcript	missense_variant	861/1534	714/1218	238/405	S/R	agC/agA	COSM1371784,COSM1371785	1		-1	SERPINA6	HGNC	HGNC:1540	protein_coding	YES	CCDS9924.1	ENSP00000342850	P08185		UPI0000127182	NM_001756.3	tolerated(0.18)		3/5		hmmpanther:PTHR11461:SF34,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574,Prints_domain:PR00780											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1212608733	.												T	3	4	83	94309906	94309906	G	T	1	0	0	0	0	1	0	0	0	14369	1310	46	2		2	SERPINA6	14	94309906	Missense_Mutation	SNP	G	C3N-01823_TP	353050	94309906	12733812	349	27692											
NPAP1	0	.	GRCh38	chr15	24678814	24678814	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaaagacttctggatttAgaattgccactgggatgcct	11	11	10	9	0	1	2	0	0	1	2	1	4	1	4	2	2	3	1	2	2	3	4	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.2947A>T	p.Arg983Ter	p.R983*	ENST00000329468	1/1	300	227	73	175	175	0	strelka-varscan-mutect	NPAP1,stop_gained,p.Arg983Ter,ENST00000329468,NM_018958.2;	T	ENST00000329468	Transcript	stop_gained	2947/7526	2947/3471	983/1156	R/*	Aga/Tga		1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2			1/1		hmmpanther:PTHR23193:SF15,hmmpanther:PTHR23193																	HIGH	1	SNV				1										PASS		.	.												T	4	4	83	24678814	24678814	A	T	1	0	0	0	0	0	1	0	0	10609	412	15	4		4	NPAP1	15	24678814	Nonsense_Mutation	SNP	A	C3N-01823_TP		24678814	77312375	350	27693											
ATP10A	0	.	GRCh38	chr15	25679752	25679752	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctccccgctggcctccagGgagcagaccggctgctgtgt	4	7	15	15	2	0	1	0	0	0	1	2	2	2	2	5	4	2	5	5	4	0	0			C3N-01823_TP	C3N-01823_NB	G	G																c.4089C>T	p.=	p.S1363S	ENST00000356865	21/21	182	133	49	105	105	0	strelka-varscan-mutect	ATP10A,synonymous_variant,p.=,ENST00000356865,NM_024490.3;ATP10A,downstream_gene_variant,,ENST00000555756,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;ATP10A,downstream_gene_variant,,ENST00000555450,;	A	ENST00000356865	Transcript	synonymous_variant	4201/6680	4089/4500	1363/1499	S	tcC/tcT	COSM3500176	1		-1	ATP10A	HGNC	HGNC:13542	protein_coding	YES	CCDS32178.1	ENSP00000349325	O60312		UPI0000124FAB	NM_024490.3			21/21		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF81											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	83	25679752	25679752	G	A	1	0	0	0	0	0	0	0	1	1268	1219	43	3		3	ATP10A	15	25679752	Silent	SNP	G	C3N-01823_TP	1000938	25679752	76311437	351	27694											
OCA2	0	.	GRCh38	chr15	27926159	27926159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagagcgctgcaaaaaacaGaagggttgcccattccactc	15	6	9	11	1	0	2	0	0	0	2	2	2	1	2	2	1	4	3	2	1	5	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2047C>T	p.=	p.L683L	ENST00000354638	19/24	387	301	86	266	266	0	strelka-varscan-mutect	OCA2,synonymous_variant,p.=,ENST00000354638,NM_000275.2;OCA2,synonymous_variant,p.=,ENST00000353809,NM_001300984.1;	A	ENST00000354638	Transcript	synonymous_variant	2203/3186	2047/2517	683/838	L	Ctg/Ttg		1		-1	OCA2	HGNC	HGNC:8101	protein_coding	YES	CCDS10020.1	ENSP00000346659	Q04671		UPI000013D158	NM_000275.2			19/24		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10283:SF67,hmmpanther:PTHR10283,Pfam_domain:PF03600																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	83	27926159	27926159	G	A	1	0	0	0	0	0	0	0	1	10892	933	33	3		3	OCA2	15	27926159	Silent	SNP	G	C3N-01823_TP	2246407	27926159	74065030	352	27695											
OTUD7A	0	.	GRCh38	chr15	31527223	31527223	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccacctccacctccgcttCagggcttccctctcagctcc	4	10	6	21	1	2	0	2	0	1	0	7	0	6	0	7	1	2	3	7	1	0	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.738G>C	p.=	p.L246L	ENST00000307050	5/11	267	206	61	157	157	0	strelka-varscan-mutect	OTUD7A,synonymous_variant,p.=,ENST00000307050,NM_130901.1;	G	ENST00000307050	Transcript	synonymous_variant	831/10770	738/2781	246/926	L	ctG/ctC		1		-1	OTUD7A	HGNC	HGNC:20718	protein_coding	YES	CCDS10026.1	ENSP00000305926	Q8TE49		UPI0000073AA5	NM_130901.1			5/11		PROSITE_profiles:PS50802,hmmpanther:PTHR13367:SF9,hmmpanther:PTHR13367,Pfam_domain:PF02338																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	83	31527223	31527223	C	G	1	0	0	0	0	0	0	0	1	11387	813	29	4		4	OTUD7A	15	31527223	Silent	SNP	C	C3N-01823_TP	3601064	31527223	70463966	353	27696											
LPCAT4	0	.	GRCh38	chr15	34363457	34363457	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcccagctggtggtgtcCtatgggagaaacacaggtga	10	8	14	9	0	0	2	0	1	0	1	1	3	1	2	2	4	3	1	2	4	2	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.712-1G>T		p.X238_splice	ENST00000314891		170	130	40	104	103	1	strelka-varscan-mutect	LPCAT4,splice_acceptor_variant,,ENST00000314891,NM_153613.2;LPCAT4,splice_acceptor_variant,,ENST00000617710,;LPCAT4,downstream_gene_variant,,ENST00000623384,;LPCAT4,downstream_gene_variant,,ENST00000562431,;LPCAT4,non_coding_transcript_exon_variant,,ENST00000562404,;LPCAT4,upstream_gene_variant,,ENST00000563748,;LPCAT4,upstream_gene_variant,,ENST00000563240,;LPCAT4,downstream_gene_variant,,ENST00000566581,;LPCAT4,upstream_gene_variant,,ENST00000567507,;LPCAT4,downstream_gene_variant,,ENST00000569804,;	A	ENST00000314891	Transcript	splice_acceptor_variant	-/2262	712/1575	238/524				1		-1	LPCAT4	HGNC	HGNC:30059	protein_coding	YES	CCDS32191.1	ENSP00000317300	Q643R3		UPI00003D0606	NM_153613.2				6/13																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	83	34363457	34363457	C	A	1	0	0	0	0	0	0	1	0	8816	695	24	2		2	LPCAT4	15	34363457	Splice_Site	SNP	C	C3N-01823_TP	2836234	34363457	67627732	354	27697											
GOLGA8A	0	.	GRCh38	chr15	34381708	34381708	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctctactcaccaccatgCttgtcggcagccccgagctc	6	8	10	17	2	2	0	1	0	1	0	4	1	2	0	4	2	4	4	4	2	1	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1602G>A	p.=	p.K534K	ENST00000359187	15/16	72	61	11	57	57	0	varscan-mutect	GOLGA8A,synonymous_variant,p.=,ENST00000432566,;GOLGA8A,synonymous_variant,p.=,ENST00000359187,NM_181077.3;MIR1233-1,downstream_gene_variant,,ENST00000408722,;GOLGA8A,non_coding_transcript_exon_variant,,ENST00000473125,;	T	ENST00000359187	Transcript	synonymous_variant	1667/1877	1602/1812	534/603	K	aaG/aaA		1		-1	GOLGA8A	HGNC	HGNC:31972	protein_coding	YES	CCDS10038.1	ENSP00000352111	A7E2F4		UPI000019C425	NM_181077.3			15/16		Pfam_domain:PF15070,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF7																	LOW	1	SNV	1			1										PASS		rs1324048532	.												T	2	4	83	34381708	34381708	C	T	1	0	0	0	0	0	0	0	1	6447	796	28	3		3	GOLGA8A	15	34381708	Silent	SNP	C	C3N-01823_TP	18251	34381708	67609481	355	27698											
UBR1	0	.	GRCh38	chr15	42988950	42988950	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaataaccatttccttgatgCtatttgaatatttaatccta	13	17	4	7	0	0	2	0	2	0	0	2	3	2	2	3	0	2	1	3	0	7	9	rs564247521		C3N-01823_TP	C3N-01823_NB	C	C																c.3866G>T	p.Ser1289Ile	p.S1289I	ENST00000290650	35/47	317	251	66	244	244	0	strelka-mutect	UBR1,missense_variant,p.Ser1289Ile,ENST00000290650,NM_174916.2;UBR1,non_coding_transcript_exon_variant,,ENST00000566493,;	A	ENST00000290650	Transcript	missense_variant	3945/7761	3866/5250	1289/1749	S/I	aGc/aTc	rs564247521	1		-1	UBR1	HGNC	HGNC:16808	protein_coding	YES	CCDS10091.1	ENSP00000290650	Q8IWV7		UPI0000074467	NM_174916.2	deleterious(0.04)		35/47		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF27																	MODERATE	1	SNV	1			1										PASS		rs564247521	.												A	3	1	83	42988950	42988950	C	A	1	0	0	0	0	1	0	0	0	17425	797	28	2		2	UBR1	15	42988950	Missense_Mutation	SNP	C	C3N-01823_TP	8607242	42988950	59002239	356	27699											
TGM5	0	.	GRCh38	chr15	43239022	43239022	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacttctccttctttgatGgctctgacagaggcagggcc	6	12	10	13	0	3	3	0	2	3	1	5	3	4	3	3	3	0	2	3	3	0	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1140C>A	p.=	p.A380A	ENST00000220420	9/13	667	499	168	441	439	2	strelka-varscan-mutect	TGM5,synonymous_variant,p.=,ENST00000220420,NM_201631.3;TGM5,synonymous_variant,p.=,ENST00000610827,;TGM5,synonymous_variant,p.=,ENST00000611276,;TGM5,synonymous_variant,p.=,ENST00000622115,;TGM5,synonymous_variant,p.=,ENST00000349114,NM_004245.3;TGM5,non_coding_transcript_exon_variant,,ENST00000396996,;TGM5,downstream_gene_variant,,ENST00000635871,;TGM5,downstream_gene_variant,,ENST00000563838,;	T	ENST00000220420	Transcript	synonymous_variant	1148/2767	1140/2163	380/720	A	gcC/gcA		1		-1	TGM5	HGNC	HGNC:11781	protein_coding	YES	CCDS32212.1	ENSP00000220420	O43548		UPI0000136CCF	NM_201631.3			9/13		Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF38,Superfamily_domains:SSF54001																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	43239022	43239022	G	T	1	0	0	0	0	0	0	0	1	16266	1335	47	2		2	TGM5	15	43239022	Silent	SNP	G	C3N-01823_TP	250072	43239022	58752167	357	27700											
CYP19A1	0	.	GRCh38	chr15	51210918	51210918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcttctgtatgctctcaaCacactgtccttgcaatgtct	8	16	5	12	0	4	0	1	0	4	0	6	0	5	0	1	0	3	3	1	0	4	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1402G>A	p.Val468Ile	p.V468I	ENST00000396402	10/10	553	468	85	398	398	0	strelka-varscan-mutect	CYP19A1,missense_variant,p.Val468Ile,ENST00000396402,NM_000103.3;CYP19A1,missense_variant,p.Val468Ile,ENST00000396404,NM_031226.2;CYP19A1,missense_variant,p.Val468Ile,ENST00000559878,;CYP19A1,downstream_gene_variant,,ENST00000558328,;CYP19A1,downstream_gene_variant,,ENST00000561075,;CYP19A1,downstream_gene_variant,,ENST00000559653,;CYP19A1,downstream_gene_variant,,ENST00000613097,;RP11-108K3.1,intron_variant,,ENST00000559909,;CYP19A1,downstream_gene_variant,,ENST00000478421,;CYP19A1,downstream_gene_variant,,ENST00000439712,;CYP19A1,downstream_gene_variant,,ENST00000557934,;CYP19A1,downstream_gene_variant,,ENST00000490076,;CYP19A1,downstream_gene_variant,,ENST00000558066,;	T	ENST00000396402	Transcript	missense_variant	1556/4417	1402/1512	468/503	V/I	Gtt/Att		1		-1	CYP19A1	HGNC	HGNC:2594	protein_coding	YES	CCDS10139.1	ENSP00000379683	P11511	A0A024R5S8	UPI000013D0D7	NM_000103.3	tolerated(0.2)		10/10		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF43,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	51210918	51210918	C	T	1	0	0	0	0	1	0	0	0	3951	478	17	3		3	CYP19A1	15	51210918	Missense_Mutation	SNP	C	C3N-01823_TP	7971896	51210918	50780271	358	27701											
WDR72	0	.	GRCh38	chr15	53597215	53597216	+	Frame_Shift_Ins	INS	-	-	A																															tattgacgggtatctttcccINSaaactcttcatgtgttgttg																								novel		C3N-01823_TP	C3N-01823_NB	-	-																c.3011dupT	p.Leu1004PhefsTer8	p.L1004Ffs*8	ENST00000396328	18/20	178	150	28	180	180	0	sindel-varindel-pindel	WDR72,frameshift_variant,p.Leu1004PhefsTer8,ENST00000396328,;WDR72,frameshift_variant,p.Leu1001PhefsTer8,ENST00000557913,;WDR72,frameshift_variant,p.Leu1004PhefsTer8,ENST00000360509,NM_182758.3;WDR72,frameshift_variant,p.Leu1014PhefsTer8,ENST00000559418,;	A	ENST00000396328	Transcript	frameshift_variant	3251-3252/7507	3011-3012/3309	1004/1102	L/FX	ttg/ttTg		1		-1	WDR72	HGNC	HGNC:26790	protein_coding	YES	CCDS10151.1	ENSP00000379619	Q3MJ13		UPI00001D777D				18/20																			HIGH	1	insertion	1			1										PASS		.	.												A	7	5	83	53597215	53597215	-	A	1	0	1	1	0	0	0	0	0	17878	593	21	0		0	WDR72	15	53597215	Frame_Shift_Ins	INS	-	C3N-01823_TP	2386297	53597215	48393974	359	27702											
MYO1E	0	.	GRCh38	chr15	59218007	59218007	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggatttgcctccccactTgctatccatctgccggcttg	4	14	8	15	2	1	0	0	0	1	0	4	1	3	1	5	2	3	2	5	2	1	5	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.991A>T	p.Lys331Ter	p.K331*	ENST00000288235	10/28	482	392	90	329	329	0	strelka-varscan-mutect	MYO1E,stop_gained,p.Lys331Ter,ENST00000288235,NM_004998.3;MYO1E,stop_gained,p.Lys161Ter,ENST00000559269,;MYO1E,stop_gained,p.Lys51Ter,ENST00000559489,;	A	ENST00000288235	Transcript	stop_gained	1391/8673	991/3327	331/1108	K/*	Aag/Tag		1		-1	MYO1E	HGNC	HGNC:7599	protein_coding	YES	CCDS32254.1	ENSP00000288235	Q12965	Q4KMR3	UPI00001FE590	NM_004998.3			10/28		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF288,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	83	59218007	59218007	T	A	1	0	0	0	0	0	1	0	0	10073	1821	63	4		4	MYO1E	15	59218007	Nonsense_Mutation	SNP	T	C3N-01823_TP	5620792	59218007	42773182	360	27703											
TLN2	0	.	GRCh38	chr15	62739397	62739397	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccagagtgaactgaaccAggcagcagctgatctgaacc	13	5	11	12	0	1	5	0	4	1	1	1	5	1	5	3	1	6	3	3	1	3	0	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.3737A>G	p.Gln1246Arg	p.Q1246R	ENST00000561311	30/58	173	159	14	127	127	0	strelka-varscan-mutect	TLN2,missense_variant,p.Gln1246Arg,ENST00000561311,NM_015059.2;TLN2,missense_variant,p.Gln244Arg,ENST00000306829,;TLN2,missense_variant,p.Gln271Arg,ENST00000636159,;TLN2,missense_variant,p.Gln160Arg,ENST00000494733,;TLN2,non_coding_transcript_exon_variant,,ENST00000559908,;TLN2,upstream_gene_variant,,ENST00000489129,;	G	ENST00000561311	Transcript	missense_variant	3967/11880	3737/7629	1246/2542	Q/R	cAg/cGg		1		1	TLN2	HGNC	HGNC:15447	protein_coding	YES	CCDS32261.1	ENSP00000453508	Q9Y4G6		UPI00001FE5FC	NM_015059.2	tolerated(0.34)		30/58		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15,Gene3D:1r0dB00,Superfamily_domains:SSF47220																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	83	62739397	62739397	A	G	1	0	0	0	0	1	0	0	0	16394	188	7	5		5	TLN2	15	62739397	Missense_Mutation	SNP	A	C3N-01823_TP	3521390	62739397	39251792	361	27704											
HCN4	0	.	GRCh38	chr15	73343650	73343650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccaccacgatccctgtgCggaagttgaggaccaagtcg	9	7	11	14	3	0	1	0	1	0	0	3	4	2	3	5	2	1	1	5	2	2	1	rs759685985		C3N-01823_TP	C3N-01823_NB	C	C																c.944G>T	p.Arg315Leu	p.R315L	ENST00000261917	2/8	266	212	54	194	193	1	strelka-varscan-mutect	HCN4,missense_variant,p.Arg315Leu,ENST00000261917,NM_005477.2;RP11-272D12.1,downstream_gene_variant,,ENST00000558742,;RP11-272D12.1,downstream_gene_variant,,ENST00000557981,;	A	ENST00000261917	Transcript	missense_variant	1938/7228	944/3612	315/1203	R/L	cGc/cTc	rs759685985,COSM5644073	1		-1	HCN4	HGNC	HGNC:16882	protein_coding	YES	CCDS10248.1	ENSP00000261917	Q9Y3Q4		UPI000003FFB5	NM_005477.2	deleterious(0)		2/8		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR01463,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF375,Superfamily_domains:SSF81324											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs759685985	.												A	3	1	83	73343650	73343650	C	A	1	0	0	0	0	1	0	0	0	6886	768	27	1		1	HCN4	15	73343650	Missense_Mutation	SNP	C	C3N-01823_TP	10604253	73343650	28647539	362	27705											
C15orf59	0	.	GRCh38	chr15	73740613	73740613	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagttcaaagtcgaagtcCgaggttagcttatcgatctg	10	12	10	9	3	2	0	1	0	1	0	6	3	4	0	2	1	1	3	2	1	4	3	rs144044826		C3N-01823_TP	C3N-01823_NB	C	C																c.186G>T	p.=	p.S62S	ENST00000569673	3/3	110	85	25	83	83	0	strelka-varscan-mutect	C15orf59,synonymous_variant,p.=,ENST00000569673,;C15orf59,synonymous_variant,p.=,ENST00000379822,NM_001039614.2;C15orf59,synonymous_variant,p.=,ENST00000559817,;C15orf59,non_coding_transcript_exon_variant,,ENST00000558834,;	A	ENST00000569673	Transcript	synonymous_variant	1391/6573	186/882	62/293	S	tcG/tcT	rs144044826	1		-1	C15orf59	HGNC	HGNC:33753	protein_coding	YES	CCDS32289.1	ENSP00000457205	Q2T9L4		UPI00001D778D				3/3		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15252,hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF3																	LOW	1	SNV	5			1										PASS		rs144044826	.												A	2	1	83	73740613	73740613	C	A	1	0	0	0	0	0	0	0	1	1850	639	23	1		1	C15orf59	15	73740613	Silent	SNP	C	C3N-01823_TP	396963	73740613	28250576	363	27706											
EDC3	0	.	GRCh38	chr15	74655764	74655764	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgctcacgttgtggggCactatgatccgtcgatagac	7	12	11	11	3	1	2	1	1	0	1	4	3	3	2	2	2	1	3	2	2	2	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.789G>A	p.=	p.V263V	ENST00000315127	4/7	144	113	31	86	86	0	strelka-varscan-mutect	EDC3,synonymous_variant,p.=,ENST00000315127,NM_001142444.1,NM_025083.3;EDC3,synonymous_variant,p.=,ENST00000426797,NM_001142443.1;EDC3,synonymous_variant,p.=,ENST00000568176,;EDC3,synonymous_variant,p.=,ENST00000562174,;EDC3,synonymous_variant,p.=,ENST00000566219,;EDC3,intron_variant,,ENST00000562974,;EDC3,downstream_gene_variant,,ENST00000563009,;EDC3,downstream_gene_variant,,ENST00000569561,;EDC3,3_prime_UTR_variant,,ENST00000565602,;	T	ENST00000315127	Transcript	synonymous_variant	971/3763	789/1527	263/508	V	gtG/gtA		1		-1	EDC3	HGNC	HGNC:26114	protein_coding	YES	CCDS10267.1	ENSP00000320503	Q96F86		UPI000007309A	NM_001142444.1,NM_025083.3			4/7		Pfam_domain:PF09532,hmmpanther:PTHR13612,hmmpanther:PTHR13612:SF0,SMART_domains:SM01199																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	74655764	74655764	C	T	1	0	0	0	0	0	0	0	1	4735	697	25	3		3	EDC3	15	74655764	Silent	SNP	C	C3N-01823_TP	915151	74655764	27335425	364	27707											
MAN2C1	0	.	GRCh38	chr15	75361321	75361321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcccataggagtcgcCaggtgggaagtggaccagta	10	7	14	10	1	0	0	0	0	0	0	2	3	1	3	3	4	1	2	3	4	3	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1279G>T	p.Gly427Cys	p.G427C	ENST00000565683	11/26	261	227	34	189	188	1	strelka-varscan-mutect	MAN2C1,missense_variant,p.Gly427Cys,ENST00000565683,NM_001256494.1;MAN2C1,missense_variant,p.Gly427Cys,ENST00000267978,NM_006715.3;MAN2C1,missense_variant,p.Gly427Cys,ENST00000569482,NM_001256495.1;MAN2C1,missense_variant,p.Gly328Cys,ENST00000563622,NM_001256496.1;NEIL1,downstream_gene_variant,,ENST00000355059,NM_024608.3;MAN2C1,upstream_gene_variant,,ENST00000618257,;MAN2C1,downstream_gene_variant,,ENST00000566256,;MAN2C1,downstream_gene_variant,,ENST00000568374,;MAN2C1,downstream_gene_variant,,ENST00000561615,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000566253,;MAN2C1,downstream_gene_variant,,ENST00000563539,;MAN2C1,3_prime_UTR_variant,,ENST00000566634,;MAN2C1,3_prime_UTR_variant,,ENST00000421803,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000564785,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563441,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563013,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000562228,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563058,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000568944,;MAN2C1,upstream_gene_variant,,ENST00000567163,;MAN2C1,upstream_gene_variant,,ENST00000566099,;MAN2C1,upstream_gene_variant,,ENST00000561693,;MAN2C1,downstream_gene_variant,,ENST00000565534,;MAN2C1,downstream_gene_variant,,ENST00000570257,;MAN2C1,upstream_gene_variant,,ENST00000569176,;MAN2C1,downstream_gene_variant,,ENST00000569355,;MAN2C1,upstream_gene_variant,,ENST00000564929,;MAN2C1,upstream_gene_variant,,ENST00000566569,;MAN2C1,upstream_gene_variant,,ENST00000563794,;MAN2C1,upstream_gene_variant,,ENST00000564570,;MAN2C1,upstream_gene_variant,,ENST00000566013,;MAN2C1,upstream_gene_variant,,ENST00000563368,;MAN2C1,downstream_gene_variant,,ENST00000565801,;MAN2C1,upstream_gene_variant,,ENST00000562067,;MAN2C1,upstream_gene_variant,,ENST00000563596,;MAN2C1,downstream_gene_variant,,ENST00000562071,;MAN2C1,upstream_gene_variant,,ENST00000562461,;MAN2C1,downstream_gene_variant,,ENST00000565784,;MAN2C1,upstream_gene_variant,,ENST00000565953,;MAN2C1,downstream_gene_variant,,ENST00000565699,;MAN2C1,upstream_gene_variant,,ENST00000567360,;MAN2C1,upstream_gene_variant,,ENST00000563528,;	A	ENST00000565683	Transcript	missense_variant	1291/3300	1279/3174	427/1057	G/C	Ggc/Tgc		1		-1	MAN2C1	HGNC	HGNC:6827	protein_coding	YES	CCDS58391.1	ENSP00000457788	Q9NTJ4		UPI0000229CBC	NM_001256494.1	deleterious(0)		11/26		hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF15,Pfam_domain:PF01074,Gene3D:3.20.110.10,Superfamily_domains:SSF88713																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	75361321	75361321	C	A	1	0	0	0	0	1	0	0	0	9139	594	21	2		2	MAN2C1	15	75361321	Missense_Mutation	SNP	C	C3N-01823_TP	705557	75361321	26629868	365	27708											
HMG20A	0	.	GRCh38	chr15	77458439	77458439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgactagctccaccctacCgcccctttttgcagatgaag	9	10	8	14	1	0	3	0	2	0	1	1	4	1	3	5	0	3	2	5	0	3	4	rs372649225		C3N-01823_TP	C3N-01823_NB	C	C																c.32C>A	p.Pro11Gln	p.P11Q	ENST00000381714	3/11	250	203	47	231	230	1	strelka-varscan-mutect	HMG20A,missense_variant,p.Pro11Gln,ENST00000381714,NM_018200.3;HMG20A,missense_variant,p.Pro11Gln,ENST00000336216,NM_001304504.1,NM_001304505.1;HMG20A,missense_variant,p.Pro11Gln,ENST00000560498,;HMG20A,missense_variant,p.Pro11Gln,ENST00000560867,;HMG20A,missense_variant,p.Pro11Gln,ENST00000559099,;HMG20A,5_prime_UTR_variant,,ENST00000558176,;HMG20A,intron_variant,,ENST00000558651,;HMG20A,missense_variant,p.Pro11Gln,ENST00000559035,;HMG20A,non_coding_transcript_exon_variant,,ENST00000560986,;	A	ENST00000381714	Transcript	missense_variant	460/4112	32/1044	11/347	P/Q	cCg/cAg	rs372649225	1		1	HMG20A	HGNC	HGNC:5001	protein_coding	YES	CCDS10295.1	ENSP00000371133	Q9NP66		UPI00000737EF	NM_018200.3	deleterious_low_confidence(0.01)		3/11																			MODERATE	1	SNV	1			1										PASS		rs372649225	.												A	3	1	83	77458439	77458439	C	A	1	0	0	0	0	1	0	0	0	7113	652	23	1		1	HMG20A	15	77458439	Missense_Mutation	SNP	C	C3N-01823_TP	2097118	77458439	24532750	366	27709											
ADAMTS7	0	.	GRCh38	chr15	78765660	78765660	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctcgctccagtttccCgcttgccagccggcgttcct	2	12	9	18	4	0	0	0	0	0	0	4	0	3	0	6	1	3	4	6	1	0	4	rs143941580		C3N-01823_TP	C3N-01823_NB	C	C																c.4251G>C	p.=	p.A1417A	ENST00000388820	19/24	130	102	28	77	77	0	strelka-varscan-mutect	ADAMTS7,synonymous_variant,p.=,ENST00000388820,NM_014272.3;ADAMTS7,downstream_gene_variant,,ENST00000566303,;ADAMTS7,downstream_gene_variant,,ENST00000565793,;ADAMTS7,upstream_gene_variant,,ENST00000569934,;	G	ENST00000388820	Transcript	synonymous_variant	4462/5490	4251/5061	1417/1686	A	gcG/gcC	rs143941580,COSM3887558,COSM556033	1		-1	ADAMTS7	HGNC	HGNC:223	protein_coding	YES	CCDS32303.1	ENSP00000373472	Q9UKP4		UPI00002263B3	NM_014272.3			19/24		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142,SMART_domains:SM00209,Superfamily_domains:SSF82895											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs143941580	.												G	2	3	83	78765660	78765660	C	G	1	0	0	0	0	0	0	0	1	315	639	23	4		4	ADAMTS7	15	78765660	Silent	SNP	C	C3N-01823_TP	1307221	78765660	23225529	367	27710											
SAXO2	0	.	GRCh38	chr15	82282120	82282120	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttttaattttcaagaCgattatagagcttgggacct	10	17	8	6	1	1	2	1	0	0	2	1	4	1	3	1	1	1	2	1	1	4	8	rs76375505		C3N-01823_TP	C3N-01823_NB	C	C																c.255C>G	p.Asp85Glu	p.D85E	ENST00000339465	3/3	109	98	11	81	81	0	strelka-varscan-mutect	SAXO2,missense_variant,p.Asp85Glu,ENST00000339465,NM_001008226.1;SAXO2,splice_region_variant,,ENST00000565501,;	G	ENST00000339465	Transcript	missense_variant,splice_region_variant	324/3134	255/1197	85/398	D/E	gaC/gaG	rs76375505	1		1	SAXO2	HGNC	HGNC:33727	protein_coding	YES	CCDS32310.1	ENSP00000340445	Q658L1		UPI00001D779A	NM_001008226.1	tolerated(0.08)		3/3		hmmpanther:PTHR31516:SF6,hmmpanther:PTHR31516																	MODERATE	1	SNV	1			1										PASS		rs76375505	.												G	3	3	83	82282120	82282120	C	G	1	0	0	0	0	1	0	0	0	14119	550	19	4		4	SAXO2	15	82282120	Missense_Mutation	SNP	C	C3N-01823_TP	3516460	82282120	19709069	368	27711											
MRPL46	0	.	GRCh38	chr15	88459763	88459763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctttgaagaagaacacCttggctccgaggttactctc	10	11	10	10	1	1	3	0	1	1	2	3	4	2	3	2	2	3	3	2	2	4	3	rs755201593		C3N-01823_TP	C3N-01823_NB	C	C																c.690G>T	p.Lys230Asn	p.K230N	ENST00000312475	4/4	519	426	93	342	342	0	strelka-varscan-mutect	MRPL46,missense_variant,p.Lys230Asn,ENST00000312475,NM_022163.3;RP11-97O12.7,non_coding_transcript_exon_variant,,ENST00000561140,;MRPL46,3_prime_UTR_variant,,ENST00000559538,;MRPL46,3_prime_UTR_variant,,ENST00000560703,;MRPL46,non_coding_transcript_exon_variant,,ENST00000558660,;	A	ENST00000312475	Transcript	missense_variant	732/1019	690/840	230/279	K/N	aaG/aaT	rs755201593	1		-1	MRPL46	HGNC	HGNC:1192	protein_coding	YES	CCDS10341.1	ENSP00000312311	Q9H2W6		UPI00000467E8	NM_022163.3	deleterious(0)		4/4		Gene3D:3.90.79.10,hmmpanther:PTHR13124,Superfamily_domains:SSF55811																	MODERATE	1	SNV	1			1										PASS		rs755201593	.												A	3	1	83	88459763	88459763	C	A	1	0	0	0	0	1	0	0	0	9785	680	24	2		2	MRPL46	15	88459763	Missense_Mutation	SNP	C	C3N-01823_TP	6177643	88459763	13531426	369	27712											
PDIA2	0	.	GRCh38	chr16	284457	284457	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgccgtgctcgcggcCgagtcaatggtggtcacgct	5	8	15	13	5	2	0	2	0	0	0	3	1	2	0	2	3	3	4	2	3	1	0	rs369610324		C3N-01823_TP	C3N-01823_NB	C	C																c.270C>A	p.=	p.A90A	ENST00000219406	2/11	584	552	32	480	479	1	strelka-varscan-mutect	PDIA2,synonymous_variant,p.=,ENST00000219406,NM_006849.2;PDIA2,synonymous_variant,p.=,ENST00000404312,;PDIA2,synonymous_variant,p.=,ENST00000456379,;AXIN1,downstream_gene_variant,,ENST00000262320,NM_003502.3;AXIN1,downstream_gene_variant,,ENST00000354866,NM_181050.2;ARHGDIG,downstream_gene_variant,,ENST00000219409,NM_001176.3;ARHGDIG,downstream_gene_variant,,ENST00000447871,;ARHGDIG,downstream_gene_variant,,ENST00000414650,;PDIA2,upstream_gene_variant,,ENST00000435833,;ARHGDIG,downstream_gene_variant,,ENST00000435035,;ARHGDIG,downstream_gene_variant,,ENST00000412541,;AXIN1,downstream_gene_variant,,ENST00000457798,;PDIA2,upstream_gene_variant,,ENST00000462950,;PDIA2,non_coding_transcript_exon_variant,,ENST00000482665,;PDIA2,non_coding_transcript_exon_variant,,ENST00000467212,;AXIN1,downstream_gene_variant,,ENST00000461023,;ARHGDIG,downstream_gene_variant,,ENST00000477621,;	A	ENST00000219406	Transcript	synonymous_variant	288/1698	270/1578	90/525	A	gcC/gcA	rs369610324,COSM4060578	1		1	PDIA2	HGNC	HGNC:14180	protein_coding	YES	CCDS42089.1	ENSP00000219406	Q13087		UPI0000131481	NM_006849.2			2/11		PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF93,Gene3D:3.40.30.10,TIGRFAM_domain:TIGR01130,Pfam_domain:PF00085,Superfamily_domains:SSF52833											0,1						LOW	1	SNV	1		0,1	1										PASS		rs369610324	.												A	2	1	83	284457	284457	C	A	1	0	0	0	0	0	0	0	1	11756	639	23	1		1	PDIA2	16	284457	Silent	SNP	C	C3N-01823_TP		284457	90053888	370	27713											
CAPN15	0	.	GRCh38	chr16	552956	552956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccaaggcctacctgcacGtgcagtgtgactgcaccgac	9	6	10	16	2	0	1	0	1	0	0	0	2	0	1	5	1	4	3	5	1	2	1			C3N-01823_TP	C3N-01823_NB	G	G																c.2998G>T	p.Val1000Leu	p.V1000L	ENST00000219611	13/14	162	131	31	101	100	1	strelka-varscan-mutect	CAPN15,missense_variant,p.Val1000Leu,ENST00000219611,NM_005632.2;CAPN15,missense_variant,p.Val38Leu,ENST00000566977,;CAPN15,downstream_gene_variant,,ENST00000637507,;CAPN15,downstream_gene_variant,,ENST00000568988,;LA16c-366D1.3,intron_variant,,ENST00000565879,;CAPN15,non_coding_transcript_exon_variant,,ENST00000565010,;	T	ENST00000219611	Transcript	missense_variant	3361/4744	2998/3261	1000/1086	V/L	Gtg/Ttg	COSM356801	1		1	CAPN15	HGNC	HGNC:11182	protein_coding	YES	CCDS10410.1	ENSP00000219611	O75808		UPI0000071B68	NM_005632.2	deleterious(0)		13/14													1						MODERATE	1	SNV	1		1	1										PASS		rs940163713	.												T	3	4	83	552956	552956	G	T	1	0	0	0	0	1	0	0	0	2320	1145	40	1		1	CAPN15	16	552956	Missense_Mutation	SNP	G	C3N-01823_TP	268499	552956	89785389	371	27714											
BAIAP3	0	.	GRCh38	chr16	1341190	1341190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaccttctggccaaggaccCcaacggtgagtggggaccca	10	5	13	13	1	1	1	0	1	1	0	1	4	1	3	5	5	2	0	5	5	3	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.635C>A	p.Pro212His	p.P212H	ENST00000324385	7/34	109	103	6	79	79	0	strelka-varscan-mutect	BAIAP3,missense_variant,p.Pro194His,ENST00000628027,;BAIAP3,missense_variant,p.Pro212His,ENST00000324385,NM_003933.4;BAIAP3,missense_variant,p.Pro194His,ENST00000397488,NM_001286464.1;BAIAP3,missense_variant,p.Pro177His,ENST00000426824,NM_001199097.1;BAIAP3,missense_variant,p.Pro177His,ENST00000421665,NM_001199096.1;BAIAP3,missense_variant,p.Pro149His,ENST00000568887,NM_001199099.1;BAIAP3,missense_variant,p.Pro154His,ENST00000562208,NM_001199098.1;BAIAP3,upstream_gene_variant,,ENST00000566162,;BAIAP3,upstream_gene_variant,,ENST00000561793,;BAIAP3,non_coding_transcript_exon_variant,,ENST00000567825,;BAIAP3,upstream_gene_variant,,ENST00000568198,;BAIAP3,upstream_gene_variant,,ENST00000561602,;BAIAP3,downstream_gene_variant,,ENST00000565665,;	A	ENST00000324385	Transcript	missense_variant	793/4678	635/3564	212/1187	P/H	cCc/cAc		1		1	BAIAP3	HGNC	HGNC:948	protein_coding	YES	CCDS10434.1	ENSP00000324510	O94812		UPI0000071E58	NM_003933.4	deleterious(0.01)		7/34		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF65,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	1341190	1341190	C	A	1	0	0	0	0	1	0	0	0	1456	637	22	2		2	BAIAP3	16	1341190	Missense_Mutation	SNP	C	C3N-01823_TP	788234	1341190	88997155	372	27715											
SHISA9	0	.	GRCh38	chr16	13213268	13213268	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggaagttctgatggtgActgggcagtatcgacactta	10	13	12	6	1	1	2	0	2	1	0	2	4	1	3	0	3	0	3	0	3	4	5	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.863A>T	p.Asp288Val	p.D288V	ENST00000558583	4/5	249	222	27	184	183	1	strelka-varscan-mutect	SHISA9,missense_variant,p.Asp288Val,ENST00000558583,NM_001145204.2;SHISA9,intron_variant,,ENST00000566106,;	T	ENST00000558583	Transcript	missense_variant	1308/6724	863/1275	288/424	D/V	gAc/gTc		1		1	SHISA9	HGNC	HGNC:37231	protein_coding	YES	CCDS45417.2	ENSP00000454014	B4DS77		UPI0001CE6F1C	NM_001145204.2	tolerated(0.13)		4/5		hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	83	13213268	13213268	A	T	1	0	0	0	0	1	0	0	0	14546	275	10	4		4	SHISA9	16	13213268	Missense_Mutation	SNP	A	C3N-01823_TP	11872078	13213268	77125077	373	27716											
GPR139	0	.	GRCh38	chr16	20032167	20032167	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaaaattgctcttcctcctGagcttgtacacaatgattga	11	13	7	10	1	1	3	0	3	1	0	3	4	3	3	2	0	3	3	2	0	4	5	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.630C>G	p.=	p.L210L	ENST00000570682	2/2	259	224	35	206	206	0	strelka-varscan-mutect	GPR139,synonymous_variant,p.=,ENST00000570682,NM_001002911.2;GPR139,3_prime_UTR_variant,,ENST00000326571,;	C	ENST00000570682	Transcript	synonymous_variant	931/1613	630/1062	210/353	L	ctC/ctG		1		-1	GPR139	HGNC	HGNC:19995	protein_coding	YES	CCDS32398.1	ENSP00000458791	Q6DWJ6	A0A142CHG1	UPI000004C566	NM_001002911.2			2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR22751,hmmpanther:PTHR22751:SF49,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	83	20032167	20032167	G	C	1	0	0	0	0	0	0	0	1	6534	1277	45	4		4	GPR139	16	20032167	Silent	SNP	G	C3N-01823_TP	6818899	20032167	70306178	374	27717											
UBFD1	0	.	GRCh38	chr16	23558046	23558046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggctgaagccgcggcggGggcggcggccgaggactccg	5	2	22	12	7	0	1	0	1	0	0	1	4	1	3	3	8	1	1	3	8	1	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.122G>T	p.Gly41Val	p.G41V	ENST00000395878	2/7	49	38	11	19	19	0	strelka-mutect	UBFD1,missense_variant,p.Gly41Val,ENST00000395878,NM_019116.2;UBFD1,missense_variant,p.Gly32Val,ENST00000567212,;UBFD1,missense_variant,p.Gly41Val,ENST00000567264,;EARS2,upstream_gene_variant,,ENST00000449606,NM_001083614.1;EARS2,upstream_gene_variant,,ENST00000563459,;EARS2,upstream_gene_variant,,ENST00000564501,;EARS2,upstream_gene_variant,,ENST00000563232,NM_001308211.1;UBFD1,non_coding_transcript_exon_variant,,ENST00000571064,;UBFD1,upstream_gene_variant,,ENST00000563366,;EARS2,upstream_gene_variant,,ENST00000564461,;EARS2,upstream_gene_variant,,ENST00000561859,;UBFD1,non_coding_transcript_exon_variant,,ENST00000566669,;UBFD1,upstream_gene_variant,,ENST00000569919,;UBFD1,upstream_gene_variant,,ENST00000565634,;EARS2,upstream_gene_variant,,ENST00000564668,;EARS2,upstream_gene_variant,,ENST00000564997,;EARS2,upstream_gene_variant,,ENST00000562799,;EARS2,upstream_gene_variant,,ENST00000563499,;EARS2,upstream_gene_variant,,ENST00000562581,;	T	ENST00000395878	Transcript	missense_variant	503/5110	122/930	41/309	G/V	gGg/gTg		1		1	UBFD1	HGNC	HGNC:30565	protein_coding	YES	CCDS10613.2	ENSP00000379217	O14562		UPI00001FF0A3	NM_019116.2	tolerated_low_confidence(0.08)		2/7		hmmpanther:PTHR16470,Low_complexity_(Seg):seg																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	83	23558046	23558046	G	T	1	0	0	0	0	1	0	0	0	17408	1232	43	2		2	UBFD1	16	23558046	Missense_Mutation	SNP	G	C3N-01823_TP	3525879	23558046	66780299	375	27718											
IL4R	0	.	GRCh38	chr16	27363370	27363370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctcacatctcccaagcaGctccccagagcacctgggtc	9	6	9	17	0	2	1	1	0	1	1	5	2	3	1	4	1	4	4	4	1	1	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2018G>T	p.Ser673Ile	p.S673I	ENST00000395762	11/11	161	131	30	99	99	0	strelka-varscan-mutect	IL4R,missense_variant,p.Ser673Ile,ENST00000395762,NM_000418.3;IL4R,missense_variant,p.Ser673Ile,ENST00000543915,NM_001257997.1,NM_001257406.1;IL4R,missense_variant,p.Ser658Ile,ENST00000170630,NM_001257407.1;IL4R,intron_variant,,ENST00000565352,;IL4R,downstream_gene_variant,,ENST00000565179,;IL4R,downstream_gene_variant,,ENST00000565915,;IL4R,3_prime_UTR_variant,,ENST00000568746,;IL4R,downstream_gene_variant,,ENST00000563886,;	T	ENST00000395762	Transcript	missense_variant	2277/3685	2018/2478	673/825	S/I	aGc/aTc		1		1	IL4R	HGNC	HGNC:6015	protein_coding	YES	CCDS10629.1	ENSP00000379111	P24394		UPI0000044371	NM_000418.3	deleterious(0.03)		11/11		hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF32,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	27363370	27363370	G	T	1	0	0	0	0	1	0	0	0	7602	971	34	2		2	IL4R	16	27363370	Missense_Mutation	SNP	G	C3N-01823_TP	3805324	27363370	62974975	376	27719											
GSG1L	0	.	GRCh38	chr16	27807543	27807543	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctcctcgctcccgtccCtcttctccatcctggaaaga	6	11	6	18	2	2	1	0	0	2	1	9	2	7	2	6	1	0	1	6	1	1	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.842G>C	p.Arg281Thr	p.R281T	ENST00000447459	6/7	240	200	40	154	154	0	strelka-varscan-mutect	GSG1L,missense_variant,p.Arg281Thr,ENST00000447459,NM_001109763.1;GSG1L,missense_variant,p.Arg230Thr,ENST00000395724,;GSG1L,missense_variant,p.Arg126Thr,ENST00000380897,NM_144675.2;GSG1L,missense_variant,p.Arg144Thr,ENST00000569166,;	G	ENST00000447459	Transcript	missense_variant	927/4916	842/996	281/331	R/T	aGg/aCg		1		-1	GSG1L	HGNC	HGNC:28283	protein_coding	YES	CCDS45450.1	ENSP00000394954	Q6UXU4		UPI0000EE765B	NM_001109763.1	tolerated_low_confidence(0.57)		6/7		hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF35																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	83	27807543	27807543	C	G	1	0	0	0	0	1	0	0	0	6704	681	24	4		4	GSG1L	16	27807543	Missense_Mutation	SNP	C	C3N-01823_TP	444173	27807543	62530802	377	27720											
SH2B1	0	.	GRCh38	chr16	28867412	28867412	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctggagatgcctgaccggGagaacacgtttgtggttaag	9	9	14	9	2	0	3	0	1	0	2	0	5	0	3	3	3	2	2	3	3	2	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1021G>T	p.Glu341Ter	p.E341*	ENST00000322610	5/11	309	293	16	193	193	0	strelka-mutect	SH2B1,stop_gained,p.Glu341Ter,ENST00000337120,NM_001145796.1,NM_001145812.1,NM_015503.2;SH2B1,stop_gained,p.Glu341Ter,ENST00000322610,NM_001308293.1;SH2B1,stop_gained,p.Glu341Ter,ENST00000359285,NM_001145797.1;SH2B1,stop_gained,p.Glu341Ter,ENST00000618521,NM_001145795.1;SH2B1,stop_gained,p.Glu341Ter,ENST00000395532,;SH2B1,stop_gained,p.Glu5Ter,ENST00000538342,NM_001308294.1;SH2B1,stop_gained,p.Glu31Ter,ENST00000545570,;SH2B1,stop_gained,p.Glu5Ter,ENST00000561629,;SH2B1,stop_gained,p.Glu28Ter,ENST00000566176,;SH2B1,intron_variant,,ENST00000567536,;SH2B1,upstream_gene_variant,,ENST00000569651,;SH2B1,downstream_gene_variant,,ENST00000563591,;SH2B1,downstream_gene_variant,,ENST00000566209,;SH2B1,upstream_gene_variant,,ENST00000568868,;RP11-22P6.2,upstream_gene_variant,,ENST00000567731,;SH2B1,intron_variant,,ENST00000563674,;SH2B1,upstream_gene_variant,,ENST00000569471,;	T	ENST00000322610	Transcript	stop_gained	1460/3095	1021/2271	341/756	E/*	Gag/Tag		1		1	SH2B1	HGNC	HGNC:30417	protein_coding	YES	CCDS53996.1	ENSP00000321221	Q9NRF2	A0A024QZD2	UPI00001AF36C	NM_001308293.1			5/11		Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR10872,hmmpanther:PTHR10872:SF3,SMART_domains:SM00233,Superfamily_domains:SSF50729																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	83	28867412	28867412	G	T	1	0	0	0	0	0	1	0	0	14485	1175	41	2		2	SH2B1	16	28867412	Nonsense_Mutation	SNP	G	C3N-01823_TP	1059869	28867412	61470933	378	27721											
SPNS1	0	.	GRCh38	chr16	28975325	28975325	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgtctcccggccgttcGgctctcatagtggcggtgct	2	11	14	14	4	2	0	1	0	2	0	5	0	2	0	3	5	1	3	3	5	1	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.174G>T	p.=	p.S58S	ENST00000311008	1/12	56	51	5	43	43	0	strelka-mutect	SPNS1,synonymous_variant,p.=,ENST00000311008,NM_001142448.1,NM_032038.2;SPNS1,synonymous_variant,p.=,ENST00000334536,NM_001142451.1;SPNS1,synonymous_variant,p.=,ENST00000565975,;SPNS1,synonymous_variant,p.=,ENST00000352260,NM_001142449.1;SPNS1,synonymous_variant,p.=,ENST00000566059,;SPNS1,synonymous_variant,p.=,ENST00000564476,;SPNS1,synonymous_variant,p.=,ENST00000567771,;SPNS1,5_prime_UTR_variant,,ENST00000323081,NM_001142450.1;SPNS1,5_prime_UTR_variant,,ENST00000568388,;SPNS1,upstream_gene_variant,,ENST00000568829,;RP11-264B17.4,intron_variant,,ENST00000567209,;SPNS1,upstream_gene_variant,,ENST00000561868,;RP11-264B17.3,non_coding_transcript_exon_variant,,ENST00000569969,;SPNS1,non_coding_transcript_exon_variant,,ENST00000568900,;	T	ENST00000311008	Transcript	synonymous_variant	551/2208	174/1587	58/528	S	tcG/tcT		1		1	SPNS1	HGNC	HGNC:30621	protein_coding	YES	CCDS10646.1	ENSP00000309945	Q9H2V7		UPI000004DB99	NM_001142448.1,NM_032038.2			1/12		hmmpanther:PTHR23505,hmmpanther:PTHR23505:SF13,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	28975325	28975325	G	T	1	0	0	0	0	0	0	0	1	15427	1103	39	1		1	SPNS1	16	28975325	Silent	SNP	G	C3N-01823_TP	107913	28975325	61363020	379	27722											
ZNF423	0	.	GRCh38	chr16	49638063	49638063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgctcatggaggccacGctgcccagtacagggtcggg	6	6	16	13	3	1	0	1	0	0	0	2	1	1	1	2	4	3	4	2	4	1	1	rs149688169		C3N-01823_TP	C3N-01823_NB	G	G																c.1089C>A	p.Ser363Arg	p.S363R	ENST00000561648	5/9	469	442	27	284	284	0	strelka-varscan-mutect	ZNF423,missense_variant,p.Ser363Arg,ENST00000561648,;ZNF423,missense_variant,p.Ser303Arg,ENST00000563137,;ZNF423,missense_variant,p.Ser363Arg,ENST00000262383,NM_015069.3;ZNF423,missense_variant,p.Ser303Arg,ENST00000562871,;ZNF423,missense_variant,p.Ser246Arg,ENST00000535559,;ZNF423,missense_variant,p.Ser303Arg,ENST00000562520,NM_001271620.1;ZNF423,missense_variant,p.Ser246Arg,ENST00000567169,;	T	ENST00000561648	Transcript	missense_variant	1390/7907	1089/3855	363/1284	S/R	agC/agA	rs149688169	1		-1	ZNF423	HGNC	HGNC:16762	protein_coding	YES	CCDS32445.1	ENSP00000455426	Q2M1K9		UPI0000353ABC		tolerated(0.06)		5/9		Low_complexity_(Seg):seg,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF210																	MODERATE	1	SNV	5			1										PASS		rs149688169	.												T	3	4	83	49638063	49638063	G	T	1	0	0	0	0	1	0	0	0	18470	1078	38	1		1	ZNF423	16	49638063	Missense_Mutation	SNP	G	C3N-01823_TP	20662738	49638063	40700282	380	27723											
SNX20	0	.	GRCh38	chr16	50673543	50673543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggccaggcggaccatggCgtccagcagaggcgcatagt	9	5	16	11	3	0	1	0	0	0	1	1	2	1	2	3	5	1	3	3	5	2	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.814G>T	p.Ala272Ser	p.A272S	ENST00000330943	4/4	157	130	27	117	117	0	strelka-varscan-mutect	SNX20,missense_variant,p.Ala272Ser,ENST00000330943,NM_182854.2;SNX20,intron_variant,,ENST00000300590,NM_153337.2;SNX20,intron_variant,,ENST00000423026,NM_001144972.1;SNX20,intron_variant,,ENST00000610485,;RP11-401P9.5,downstream_gene_variant,,ENST00000570167,;RP11-401P9.5,downstream_gene_variant,,ENST00000570241,;SNX20,intron_variant,,ENST00000568993,;	A	ENST00000330943	Transcript	missense_variant	986/2904	814/951	272/316	A/S	Gcc/Tcc		1		-1	SNX20	HGNC	HGNC:30390	protein_coding	YES	CCDS10745.1	ENSP00000332062	Q7Z614		UPI000004348D	NM_182854.2	tolerated(0.26)		4/4		Gene3D:1.25.40.10,hmmpanther:PTHR20939,hmmpanther:PTHR20939:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	50673543	50673543	C	A	1	0	0	0	0	1	0	0	0	15213	768	27	1		1	SNX20	16	50673543	Missense_Mutation	SNP	C	C3N-01823_TP	1035480	50673543	39664802	381	27724											
NOD2	0	.	GRCh38	chr16	50722680	50722680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctggctgaagccttgggtGatcaccagagcttgaggtgg	7	9	15	10	0	1	4	1	3	0	1	1	4	1	4	3	4	2	2	3	4	1	2			C3N-01823_TP	C3N-01823_NB	G	G																c.2773G>C	p.Asp925His	p.D925H	ENST00000300589	8/12	403	374	29	313	313	0	strelka-varscan-mutect	NOD2,missense_variant,p.Asp925His,ENST00000300589,NM_022162.2,NM_001293557.1;NOD2,missense_variant,p.Asp137His,ENST00000534057,;RP11-327F22.1,downstream_gene_variant,,ENST00000563315,;NOD2,3_prime_UTR_variant,,ENST00000534067,;NOD2,3_prime_UTR_variant,,ENST00000529633,;NOD2,3_prime_UTR_variant,,ENST00000524712,;NOD2,3_prime_UTR_variant,,ENST00000527052,;	C	ENST00000300589	Transcript	missense_variant	2878/4486	2773/3123	925/1040	D/H	Gat/Cat	COSM3510097	1		1	NOD2	HGNC	HGNC:5331	protein_coding	YES	CCDS10746.1	ENSP00000300589	Q9HC29		UPI000005027A	NM_022162.2,NM_001293557.1	deleterious(0.01)		8/12		hmmpanther:PTHR24106:SF64,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047											1						MODERATE	1	SNV	2		1	1										PASS		.	.												C	3	2	83	50722680	50722680	G	C	1	0	0	0	0	1	0	0	0	10560	1290	45	4		4	NOD2	16	50722680	Missense_Mutation	SNP	G	C3N-01823_TP	49137	50722680	39615665	382	27725											
CPNE2	0	.	GRCh38	chr16	57123434	57123434	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ataaaccgagactactccttCcttgactacatcctgggagg	11	10	8	12	1	0	2	0	1	0	1	3	4	3	3	4	2	3	0	4	2	4	5	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.888C>T	p.=	p.F296F	ENST00000290776	10/16	287	239	48	232	232	0	strelka-varscan-mutect	CPNE2,synonymous_variant,p.=,ENST00000290776,NM_152727.5;CPNE2,synonymous_variant,p.=,ENST00000535318,;CPNE2,synonymous_variant,p.=,ENST00000565874,;CPNE2,synonymous_variant,p.=,ENST00000565766,;CPNE2,downstream_gene_variant,,ENST00000567487,;CPNE2,upstream_gene_variant,,ENST00000565951,;CPNE2,non_coding_transcript_exon_variant,,ENST00000566042,;	T	ENST00000290776	Transcript	synonymous_variant	1177/2645	888/1647	296/548	F	ttC/ttT		1		1	CPNE2	HGNC	HGNC:2315	protein_coding	YES	CCDS10774.1	ENSP00000290776	Q96FN4		UPI000017DA4F	NM_152727.5			10/16		hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF3																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	57123434	57123434	C	T	1	0	0	0	0	0	0	0	1	3607	854	30	3		3	CPNE2	16	57123434	Silent	SNP	C	C3N-01823_TP	6400754	57123434	33214911	383	27726											
FAM192A	0	.	GRCh38	chr16	57172824	57172824	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcttcctgtccttctgttCctgtagcctttcatatagag	5	17	7	12	0	2	1	1	0	1	1	5	1	5	1	4	0	2	3	4	0	3	7	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.178G>T	p.Glu60Ter	p.E60*	ENST00000309137	3/7	292	273	19	227	227	0	varscan-mutect	FAM192A,stop_gained,p.Glu60Ter,ENST00000309137,NM_024946.2;FAM192A,stop_gained,p.Glu60Ter,ENST00000567439,;FAM192A,stop_gained,p.Glu60Ter,ENST00000564108,;FAM192A,stop_gained,p.Glu60Ter,ENST00000565458,;FAM192A,stop_gained,p.Glu60Ter,ENST00000389447,;FAM192A,stop_gained,p.Glu60Ter,ENST00000569266,;FAM192A,stop_gained,p.Glu60Ter,ENST00000567044,;FAM192A,stop_gained,p.Glu60Ter,ENST00000566584,;FAM192A,stop_gained,p.Glu60Ter,ENST00000565760,;FAM192A,stop_gained,p.Glu60Ter,ENST00000568671,;FAM192A,stop_gained,p.Glu60Ter,ENST00000562324,;FAM192A,stop_gained,p.Glu60Ter,ENST00000570184,;FAM192A,stop_gained,p.Glu60Ter,ENST00000566481,;FAM192A,stop_gained,p.Glu60Ter,ENST00000562406,;FAM192A,5_prime_UTR_variant,,ENST00000566077,;FAM192A,intron_variant,,ENST00000565956,;FAM192A,downstream_gene_variant,,ENST00000566681,;FAM192A,downstream_gene_variant,,ENST00000564424,;FAM192A,stop_gained,p.Glu60Ter,ENST00000566403,;	A	ENST00000309137	Transcript	stop_gained	437/2848	178/765	60/254	E/*	Gaa/Taa		1		-1	FAM192A	HGNC	HGNC:29856	protein_coding	YES	CCDS42168.1	ENSP00000335808	Q9GZU8	A0A024R6T8	UPI000003620C	NM_024946.2			3/7		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10187,hmmpanther:PTHR13495,hmmpanther:PTHR13495:SF0																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	83	57172824	57172824	C	A	1	0	0	0	0	0	1	0	0	5370	864	30	2		2	FAM192A	16	57172824	Nonsense_Mutation	SNP	C	C3N-01823_TP	49390	57172824	33165521	384	27727											
TK2	0	.	GRCh38	chr16	66512048	66512048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctaacatcctctccatgtGgtggtcagcctcaatcacct	8	13	6	14	0	5	0	3	0	2	0	7	0	6	0	4	2	2	0	4	2	2	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.718C>T	p.His240Tyr	p.H240Y	ENST00000299697	10/10	634	516	118	399	399	0	strelka-varscan-mutect	TK2,missense_variant,p.His240Tyr,ENST00000299697,NM_004614.4,NM_001271934.1;TK2,missense_variant,p.His222Tyr,ENST00000620035,NM_001172645.1;TK2,missense_variant,p.His282Tyr,ENST00000451102,;TK2,missense_variant,p.His240Tyr,ENST00000544898,;TK2,missense_variant,p.His143Tyr,ENST00000527800,;TK2,missense_variant,p.His209Tyr,ENST00000527284,NM_001172643.1;TK2,missense_variant,p.His143Tyr,ENST00000525974,NM_001272050.1;TK2,missense_variant,p.His257Tyr,ENST00000564917,;TK2,missense_variant,p.His215Tyr,ENST00000545043,NM_001172644.1;TK2,missense_variant,p.His264Tyr,ENST00000417693,;TK2,missense_variant,p.His143Tyr,ENST00000563369,;TK2,3_prime_UTR_variant,,ENST00000569718,NM_001271935.1;TK2,intron_variant,,ENST00000561905,;TK2,downstream_gene_variant,,ENST00000563478,;RP11-403P17.3,downstream_gene_variant,,ENST00000568560,;TK2,non_coding_transcript_exon_variant,,ENST00000564792,;TK2,upstream_gene_variant,,ENST00000568170,;TK2,3_prime_UTR_variant,,ENST00000567357,;TK2,non_coding_transcript_exon_variant,,ENST00000562552,;TK2,non_coding_transcript_exon_variant,,ENST00000563099,;RP11-403P17.5,intron_variant,,ENST00000561728,;RP11-403P17.5,intron_variant,,ENST00000561527,;	A	ENST00000299697	Transcript	missense_variant	1069/5114	718/798	240/265	H/Y	Cac/Tac		1		-1	TK2	HGNC	HGNC:11831	protein_coding	YES	CCDS10805.2	ENSP00000299697	O00142		UPI00001AECBD	NM_004614.4,NM_001271934.1	deleterious(0)		10/10		hmmpanther:PTHR10513:SF24,hmmpanther:PTHR10513,Gene3D:3.40.50.300,PIRSF_domain:PIRSF000705,Pfam_domain:PF01712,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	66512048	66512048	G	A	1	0	0	0	0	1	0	0	0	16375	1348	47	3		3	TK2	16	66512048	Missense_Mutation	SNP	G	C3N-01823_TP	9339224	66512048	23826297	385	27728											
PHLPP2	0	.	GRCh38	chr16	71679491	71679491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ataacaatataggaaacaacCcaagtttattatgggacaag	19	9	7	6	0	0	0	0	0	0	0	0	2	0	2	1	2	3	1	1	2	10	6	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.935G>T	p.Gly312Val	p.G312V	ENST00000568954	7/19	240	226	14	199	197	2	strelka-varscan-mutect	PHLPP2,missense_variant,p.Gly312Val,ENST00000393524,NM_001289003.1;PHLPP2,missense_variant,p.Gly312Val,ENST00000568954,NM_015020.3;PHLPP2,missense_variant,p.Gly347Val,ENST00000567016,;PHLPP2,missense_variant,p.Gly50Val,ENST00000568004,;PHLPP2,non_coding_transcript_exon_variant,,ENST00000538126,;PHLPP2,non_coding_transcript_exon_variant,,ENST00000574977,;	A	ENST00000568954	Transcript	missense_variant	1314/8317	935/3972	312/1323	G/V	gGg/gTg		1		-1	PHLPP2	HGNC	HGNC:29149	protein_coding	YES	CCDS32479.1	ENSP00000457991	Q6ZVD8		UPI0000229F5A	NM_015020.3	deleterious(0.04)		7/19		PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF252,Gene3D:3.80.10.10,SMART_domains:SM00364,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	71679491	71679491	C	A	1	0	0	0	0	1	0	0	0	11943	623	22	2		2	PHLPP2	16	71679491	Missense_Mutation	SNP	C	C3N-01823_TP	5167443	71679491	18658854	386	27729											
RFWD3	0	.	GRCh38	chr16	74636555	74636555	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtaaattctgactttgaTgtgacgtaagtttttgcaag	10	16	10	5	1	1	3	0	3	1	0	1	3	1	3	0	0	1	5	0	0	4	6	rs758670822		C3N-01823_TP	C3N-01823_NB	T	T																c.1217A>C	p.His406Pro	p.H406P	ENST00000361070	8/13	319	260	59	217	217	0	strelka-varscan-mutect	RFWD3,missense_variant,p.His406Pro,ENST00000361070,NM_018124.3;RFWD3,missense_variant,p.His406Pro,ENST00000571750,;RFWD3,upstream_gene_variant,,ENST00000575154,;RFWD3,downstream_gene_variant,,ENST00000575281,;	G	ENST00000361070	Transcript	missense_variant	1315/4957	1217/2325	406/774	H/P	cAt/cCt	rs758670822	1		-1	RFWD3	HGNC	HGNC:25539	protein_coding	YES	CCDS32486.1	ENSP00000354361	Q6PCD5		UPI0000366B66	NM_018124.3	deleterious(0.01)		8/13		hmmpanther:PTHR16047:SF7,hmmpanther:PTHR16047,Gene3D:2.130.10.10																	MODERATE	1	SNV	1			1										PASS		rs758670822	.												G	3	3	83	74636555	74636555	T	G	1	0	0	0	0	1	0	0	0	13435	1464	51	5		5	RFWD3	16	74636555	Missense_Mutation	SNP	T	C3N-01823_TP	2957064	74636555	15701790	387	27730											
SPIRE2	0	.	GRCh38	chr16	89854332	89854332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgcatctggagacgcctcGggcagagctggacagcctgg	7	5	16	13	3	1	2	0	0	1	2	2	4	1	3	3	4	2	3	3	4	0	0	rs373339665		C3N-01823_TP	C3N-01823_NB	G	G																c.692G>T	p.Arg231Leu	p.R231L	ENST00000378247	4/15	266	217	49	209	209	0	strelka-varscan-mutect	SPIRE2,missense_variant,p.Arg231Leu,ENST00000378247,NM_032451.1;SPIRE2,missense_variant,p.Arg231Leu,ENST00000393062,;SPIRE2,downstream_gene_variant,,ENST00000564878,;SPIRE2,3_prime_UTR_variant,,ENST00000566337,;SPIRE2,non_coding_transcript_exon_variant,,ENST00000569108,;SPIRE2,non_coding_transcript_exon_variant,,ENST00000561883,;	T	ENST00000378247	Transcript	missense_variant	735/3235	692/2145	231/714	R/L	cGg/cTg	rs373339665	1		1	SPIRE2	HGNC	HGNC:30623	protein_coding	YES	CCDS32516.1	ENSP00000367494	Q8WWL2		UPI00001C1FA8	NM_032451.1	tolerated(0.48)		4/15		hmmpanther:PTHR21345,hmmpanther:PTHR21345:SF5																	MODERATE	1	SNV	1			1										PASS		rs373339665	.												T	3	4	83	89854332	89854332	G	T	1	0	0	0	0	1	0	0	0	15425	1116	39	1		1	SPIRE2	16	89854332	Missense_Mutation	SNP	G	C3N-01823_TP	15217777	89854332	484013	388	27731											
DOC2B	0	.	GRCh38	chr17	172536	172536	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaggctggcggggcctaCcttggccttggtgatggtgc	3	9	19	10	1	0	1	0	1	0	0	0	1	0	1	3	8	2	2	3	8	1	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.453+1G>T		p.X151_splice	ENST00000613549		97	66	31	58	58	0	strelka-varscan-mutect	DOC2B,splice_donor_variant,,ENST00000613549,NM_003585.4;DOC2B,splice_donor_variant,,ENST00000609727,;	A	ENST00000613549	Transcript	splice_donor_variant	-/6048	453/1239	151/412				1		-1	DOC2B	HGNC	HGNC:2986	protein_coding	YES	CCDS73934.1	ENSP00000482950		A0A087WZX8	UPI000013ED38	NM_003585.4				2/8																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	83	172536	172536	C	A	1	0	0	0	0	0	0	1	0	4498	521	18	2		2	DOC2B	17	172536	Splice_Site	SNP	C	C3N-01823_TP		172536	83084905	389	27732											
SMG6	0	.	GRCh38	chr17	2292916	2292916	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcactggcttgctcccggTacctagcaatatctccttgg	7	13	8	13	1	2	0	1	0	1	0	4	0	3	0	3	3	3	4	3	3	5	6	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.2213A>C	p.Tyr738Ser	p.Y738S	ENST00000263073	5/19	349	286	63	243	243	0	strelka-varscan-mutect	SMG6,missense_variant,p.Tyr738Ser,ENST00000263073,NM_017575.4;	G	ENST00000263073	Transcript	missense_variant	2264/5960	2213/4260	738/1419	Y/S	tAc/tCc		1		-1	SMG6	HGNC	HGNC:17809	protein_coding	YES	CCDS11016.1	ENSP00000263073	Q86US8		UPI00002005C8	NM_017575.4	deleterious(0)		5/19		hmmpanther:PTHR15696:SF0,hmmpanther:PTHR15696,Pfam_domain:PF10374,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	83	2292916	2292916	T	G	1	0	0	0	0	1	0	0	0	15091	1638	57	5		5	SMG6	17	2292916	Missense_Mutation	SNP	T	C3N-01823_TP	2120380	2292916	80964525	390	27733											
USP6	0	.	GRCh38	chr17	5136690	5136690	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggggctccaagaccaacagGagcatgtggtacccaagtca	13	5	12	11	0	1	1	1	0	0	1	2	2	2	2	3	4	3	3	3	4	4	1	rs756916065		C3N-01823_TP	C3N-01823_NB	G	G																c.715G>T	p.Glu239Ter	p.E239*	ENST00000574788	18/38	389	321	68	264	264	0	strelka-varscan-mutect	USP6,stop_gained,p.Glu239Ter,ENST00000574788,NM_001304284.1;USP6,stop_gained,p.Glu239Ter,ENST00000250066,NM_004505.3;USP6,downstream_gene_variant,,ENST00000572429,;USP6,stop_gained,p.Glu239Ter,ENST00000575709,;USP6,stop_gained,p.Glu239Ter,ENST00000572949,;USP6,downstream_gene_variant,,ENST00000357482,;	T	ENST00000574788	Transcript	stop_gained	2945/8464	715/4221	239/1406	E/*	Gag/Tag	rs756916065	1		1	USP6	HGNC	HGNC:12629	protein_coding	YES	CCDS11069.2	ENSP00000460380	P35125		UPI000006226F	NM_001304284.1			18/38		Pfam_domain:PF00566,PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF233,SMART_domains:SM00164,Superfamily_domains:SSF47923																	HIGH	1	SNV	1			1										PASS		rs756916065	.												T	4	4	83	5136690	5136690	G	T	1	0	0	0	0	0	1	0	0	17629	1175	41	2		2	USP6	17	5136690	Nonsense_Mutation	SNP	G	C3N-01823_TP	2843774	5136690	78120751	391	27734											
NLGN2	0	.	GRCh38	chr17	7417172	7417172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgcctccctacgccacGcgctggccgcctcgtccccc	2	6	9	24	6	0	0	0	0	0	0	3	0	2	0	8	1	2	1	8	1	1	1	rs747379386		C3N-01823_TP	C3N-01823_NB	G	G																c.1881G>A	p.=	p.T627T	ENST00000302926	7/7	314	254	60	204	204	0	strelka-varscan-mutect	NLGN2,synonymous_variant,p.=,ENST00000302926,NM_020795.3;NLGN2,synonymous_variant,p.=,ENST00000575301,;SPEM1,upstream_gene_variant,,ENST00000323675,NM_199339.2;NLGN2,downstream_gene_variant,,ENST00000570940,;RP11-104H15.7,upstream_gene_variant,,ENST00000575310,;	A	ENST00000302926	Transcript	synonymous_variant	1954/4642	1881/2508	627/835	T	acG/acA	rs747379386	1		1	NLGN2	HGNC	HGNC:14290	protein_coding	YES	CCDS11103.1	ENSP00000305288	Q8NFZ4		UPI0000049FD2	NM_020795.3			7/7		hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF53,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs747379386	.												A	2	1	83	7417172	7417172	G	A	1	0	0	0	0	0	0	0	1	10499	1074	38	1		1	NLGN2	17	7417172	Silent	SNP	G	C3N-01823_TP	2280482	7417172	75840269	392	27735											
TP53	0	.	GRCh38	chr17	7675080	7675080	+	Frame_Shift_Del	DEL	G	G	-																															atctgagcagcgctcatggtGggggcagcgcctcacaacct																								rs863223300,rs869151209		C3N-01823_TP	C3N-01823_NB	G	G																c.532delC	p.His178ThrfsTer69	p.H178Tfs*69	ENST00000269305	5/11	422	330	92	302	302	0	sindel-varindel-pindel	TP53,frameshift_variant,p.His178ThrfsTer69,ENST00000617185,NM_001126114.2;TP53,frameshift_variant,p.His178ThrfsTer69,ENST00000420246,;TP53,frameshift_variant,p.His139ThrfsTer69,ENST00000622645,NM_001276696.1;TP53,frameshift_variant,p.His139ThrfsTer69,ENST00000610292,NM_001126118.1;TP53,frameshift_variant,p.His178ThrfsTer69,ENST00000455263,NM_001126113.2;TP53,frameshift_variant,p.His139ThrfsTer69,ENST00000610538,NM_001276695.1;TP53,frameshift_variant,p.His178ThrfsTer69,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,frameshift_variant,p.His139ThrfsTer69,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,frameshift_variant,p.His178ThrfsTer69,ENST00000445888,;TP53,frameshift_variant,p.His139ThrfsTer69,ENST00000619485,;TP53,frameshift_variant,p.His46ThrfsTer69,ENST00000510385,NM_001126116.1;TP53,frameshift_variant,p.His19ThrfsTer69,ENST00000618944,NM_001276698.1;TP53,frameshift_variant,p.His46ThrfsTer69,ENST00000504290,NM_001126117.1;TP53,frameshift_variant,p.His19ThrfsTer69,ENST00000610623,NM_001276699.1;TP53,frameshift_variant,p.His46ThrfsTer69,ENST00000504937,NM_001126115.1;TP53,frameshift_variant,p.His19ThrfsTer69,ENST00000619186,NM_001276697.1;TP53,frameshift_variant,p.His178ThrfsTer69,ENST00000359597,;TP53,frameshift_variant,p.His167ThrfsTer69,ENST00000615910,;TP53,frameshift_variant,p.His178ThrfsTer69,ENST00000413465,;TP53,frameshift_variant,p.His46ThrfsTer69,ENST00000509690,;TP53,frameshift_variant,p.His85ThrfsTer69,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,frameshift_variant,p.His139ThrfsTer69,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	-	ENST00000269305	Transcript	frameshift_variant	722/2579	532/1182	178/393	H/X	Cac/ac	rs863223300,rs869151209,CD983489,CM111332,TP53_g.12520C>T,TP53_g.12520C>G,TP53_g.12520C>A,TP53_g.12520del,COSM111495,COSM111496,COSM111497,COSM111498,COSM44068,COSM44120,COSM44659,COSM44901,COSM4874415,COSM4874416,COSM5108058,COSM5108059,COSM5610919,COSM5610920,COSM5610921,COSM5610922,COSM5610923,COSM5610924,COSM984946,COSM984948,COSM984949,COSM984950	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5			5/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										pathogenic	0,0,0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						HIGH	1	deletion	1		1,0,1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		.	.												-	7	5	83	7675080	7675080	G	-	1	0	1	0	1	0	0	0	0	16859	1348	47	0		0	TP53	17	7675080	Frame_Shift_Del	DEL	G	C3N-01823_TP	257908	7675080	75582361	393	27736											
CCDC42	0	.	GRCh38	chr17	8741530	8741530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgtagtagtccttcaGcttggcgctcagccgctggt	7	11	13	10	2	2	1	2	0	0	1	3	2	3	1	2	2	2	5	2	2	3	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.436C>A	p.Leu146Met	p.L146M	ENST00000293845	4/7	409	319	90	342	341	1	strelka-varscan-mutect	CCDC42,missense_variant,p.Leu146Met,ENST00000293845,NM_144681.2;CCDC42,missense_variant,p.Leu146Met,ENST00000539522,NM_001158261.1;CCDC42,downstream_gene_variant,,ENST00000581598,;	T	ENST00000293845	Transcript	missense_variant	663/1374	436/951	146/316	L/M	Ctg/Atg		1		-1	CCDC42	HGNC	HGNC:26528	protein_coding	YES	CCDS11145.1	ENSP00000293845	Q96M95		UPI000013E127	NM_144681.2	deleterious(0.03)		4/7		hmmpanther:PTHR21683:SF8,hmmpanther:PTHR21683,Pfam_domain:PF13863																	MODERATE	1	SNV	2			1										PASS		rs1358705392	.												T	3	4	83	8741530	8741530	G	T	1	0	0	0	0	1	0	0	0	2522	962	34	2		2	CCDC42	17	8741530	Missense_Mutation	SNP	G	C3N-01823_TP	1066450	8741530	74515911	394	27737											
MYOCD	0	.	GRCh38	chr17	12753178	12753178	+	Frame_Shift_Del	DEL	C	C	-																															ctttcttccacatttctcagCccccagtgttcccctcagca																								novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1894delC	p.Gln632SerfsTer12	p.Q632Sfs*12	ENST00000425538	10/14	242	192	50	166	166	0	sindel-varindel-pindel	MYOCD,frameshift_variant,p.Gln632SerfsTer12,ENST00000425538,NM_001146312.2;MYOCD,frameshift_variant,p.Gln337SerfsTer12,ENST00000443061,;MYOCD,frameshift_variant,p.Gln632SerfsTer12,ENST00000343344,NM_153604.3;MYOCD,non_coding_transcript_exon_variant,,ENST00000395988,;	-	ENST00000425538	Transcript	frameshift_variant	2090/8466	1890/2961	630/986	S/X	agC/ag		1		1	MYOCD	HGNC	HGNC:16067	protein_coding	YES	CCDS54091.1	ENSP00000401678	Q8IZQ8		UPI000022A2E2	NM_001146312.2			10/14		hmmpanther:PTHR22793:SF11,hmmpanther:PTHR22793																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	83	12753178	12753178	C	-	1	0	1	0	1	0	0	0	0	10088	738	26	0		0	MYOCD	17	12753178	Frame_Shift_Del	DEL	C	C3N-01823_TP	4011648	12753178	70504263	395	27738											
ELAC2	0	.	GRCh38	chr17	12995745	12995745	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactggttgtggtactgcTggagccaggctttgagctgg	5	11	17	8	0	0	1	0	1	0	0	0	2	0	2	1	6	4	6	1	6	1	3	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.1766A>T	p.Gln589Leu	p.Q589L	ENST00000338034	19/24	576	477	99	415	414	1	strelka-varscan-mutect	ELAC2,missense_variant,p.Gln589Leu,ENST00000338034,NM_018127.6,NM_173717.1;ELAC2,missense_variant,p.Gln570Leu,ENST00000395962,;ELAC2,missense_variant,p.Gln549Leu,ENST00000426905,NM_001165962.1;ELAC2,missense_variant,p.Gln389Leu,ENST00000584650,;ARHGAP44,downstream_gene_variant,,ENST00000379672,NM_014859.4;ARHGAP44,downstream_gene_variant,,ENST00000340825,NM_001321166.1;ELAC2,downstream_gene_variant,,ENST00000446899,;ELAC2,non_coding_transcript_exon_variant,,ENST00000484122,;ELAC2,non_coding_transcript_exon_variant,,ENST00000465825,;ELAC2,non_coding_transcript_exon_variant,,ENST00000480891,;ELAC2,non_coding_transcript_exon_variant,,ENST00000487229,;ELAC2,non_coding_transcript_exon_variant,,ENST00000491478,;ELAC2,non_coding_transcript_exon_variant,,ENST00000492559,;ARHGAP44,downstream_gene_variant,,ENST00000580768,NM_001321168.1;ELAC2,downstream_gene_variant,,ENST00000578104,;ELAC2,downstream_gene_variant,,ENST00000578991,;ELAC2,downstream_gene_variant,,ENST00000476042,;	A	ENST00000338034	Transcript	missense_variant	2006/3148	1766/2481	589/826	Q/L	cAg/cTg		1		-1	ELAC2	HGNC	HGNC:14198	protein_coding	YES	CCDS11164.1	ENSP00000337445	Q9BQ52	A0A0S2Z5M8	UPI000004A07E	NM_018127.6,NM_173717.1	tolerated(0.11)		19/24		hmmpanther:PTHR12553:SF49,hmmpanther:PTHR12553,Pfam_domain:PF12706,Gene3D:3.60.15.10,Superfamily_domains:SSF56281																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	12995745	12995745	T	A	1	0	0	0	0	1	0	0	0	4880	1580	55	4		4	ELAC2	17	12995745	Missense_Mutation	SNP	T	C3N-01823_TP	242567	12995745	70261696	396	27739											
NF1	0	.	GRCh38	chr17	31337543	31337543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacttttgctttgacatcCttggaaacagtcacagaagc	12	11	9	9	0	1	3	1	1	0	2	2	5	2	4	1	1	3	1	1	1	2	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.6603C>T	p.=	p.S2201S	ENST00000358273	43/58	346	272	74	238	237	1	strelka-varscan-mutect	NF1,synonymous_variant,p.=,ENST00000358273,NM_001042492.2;NF1,synonymous_variant,p.=,ENST00000356175,NM_000267.3;NF1,synonymous_variant,p.=,ENST00000456735,;NF1,downstream_gene_variant,,ENST00000581113,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,upstream_gene_variant,,ENST00000471572,;NF1,upstream_gene_variant,,ENST00000581790,;NF1,downstream_gene_variant,,ENST00000479536,;NF1,upstream_gene_variant,,ENST00000584328,;NF1,upstream_gene_variant,,ENST00000582892,;	T	ENST00000358273	Transcript	synonymous_variant	6986/12425	6603/8520	2201/2839	S	tcC/tcT		1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2			43/58		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF90,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	31337543	31337543	C	T	1	0	0	0	0	0	0	0	1	10393	668	24	3		3	NF1	17	31337543	Silent	SNP	C	C3N-01823_TP	18341798	31337543	51919898	397	27740											
MED1	0	.	GRCh38	chr17	39408077	39408077	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgtgctccccacattttTtgactctgaggtcttcttag	6	16	7	12	0	3	2	0	2	3	0	4	2	4	2	3	1	1	1	3	1	1	5	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.4144A>G	p.Lys1382Glu	p.K1382E	ENST00000300651	17/17	343	321	22	203	203	0	strelka-varscan-mutect	MED1,missense_variant,p.Lys1382Glu,ENST00000300651,NM_004774.3;MED1,intron_variant,,ENST00000394287,;CTB-131K11.1,downstream_gene_variant,,ENST00000582842,;MED1,3_prime_UTR_variant,,ENST00000577831,;	C	ENST00000300651	Transcript	missense_variant	4368/5844	4144/4746	1382/1581	K/E	Aaa/Gaa		1		-1	MED1	HGNC	HGNC:9234	protein_coding	YES	CCDS11336.1	ENSP00000300651	Q15648		UPI0000167F57	NM_004774.3	deleterious_low_confidence(0.03)		17/17		Low_complexity_(Seg):seg,hmmpanther:PTHR12881																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	39408077	39408077	T	C	1	0	0	0	0	1	0	0	0	9364	1850	64	5		5	MED1	17	39408077	Missense_Mutation	SNP	T	C3N-01823_TP	8070534	39408077	43849364	398	27741											
TCAP	0	.	GRCh38	chr17	39665786	39665786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggggcagtgccaggtgctgGtgcagcgctcgccctggctg	4	7	18	12	2	0	0	0	0	0	0	1	0	0	0	2	5	4	5	2	5	0	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.181G>T	p.Val61Leu	p.V61L	ENST00000309889	2/2	125	106	19	58	57	1	strelka-varscan-mutect	TCAP,missense_variant,p.Val61Leu,ENST00000309889,NM_003673.3;TCAP,splice_region_variant,,ENST00000578283,;STARD3,downstream_gene_variant,,ENST00000336308,NM_006804.3;STARD3,downstream_gene_variant,,ENST00000580611,;STARD3,downstream_gene_variant,,ENST00000394250,NM_001165938.1;STARD3,downstream_gene_variant,,ENST00000544210,NM_001165937.1;PNMT,upstream_gene_variant,,ENST00000269582,NM_002686.4;PNMT,upstream_gene_variant,,ENST00000394246,;PNMT,upstream_gene_variant,,ENST00000581428,;STARD3,downstream_gene_variant,,ENST00000583639,;STARD3,downstream_gene_variant,,ENST00000481171,;STARD3,downstream_gene_variant,,ENST00000584850,;STARD3,downstream_gene_variant,,ENST00000488876,;STARD3,downstream_gene_variant,,ENST00000471896,;STARD3,downstream_gene_variant,,ENST00000578577,;STARD3,downstream_gene_variant,,ENST00000585269,;STARD3,downstream_gene_variant,,ENST00000578384,;STARD3,downstream_gene_variant,,ENST00000578686,;STARD3,downstream_gene_variant,,ENST00000583884,;	T	ENST00000309889	Transcript	missense_variant	1354/2123	181/504	61/167	V/L	Gtg/Ttg		1		1	TCAP	HGNC	HGNC:11610	protein_coding	YES	CCDS11342.1	ENSP00000312624	O15273	A2TDC0	UPI0000136BAD	NM_003673.3	tolerated(0.16)		2/2		hmmpanther:PTHR15143,hmmpanther:PTHR15143:SF0,Gene3D:1ya5T01,Pfam_domain:PF09470																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	39665786	39665786	G	T	1	0	0	0	0	1	0	0	0	16073	1261	44	2		2	TCAP	17	39665786	Missense_Mutation	SNP	G	C3N-01823_TP	257709	39665786	43591655	399	27742											
KRT24	0	.	GRCh38	chr17	40703619	40703619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttccactgctgaagctGcttccaccagcagacaccct	8	9	7	17	0	0	2	0	1	0	1	2	2	2	2	4	0	5	5	4	0	1	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.75C>A	p.Ser25Arg	p.S25R	ENST00000264651	1/8	119	103	16	69	69	0	strelka-varscan-mutect	KRT24,missense_variant,p.Ser25Arg,ENST00000264651,NM_019016.2;	T	ENST00000264651	Transcript	missense_variant	132/1881	75/1578	25/525	S/R	agC/agA		1		-1	KRT24	HGNC	HGNC:18527	protein_coding	YES	CCDS11372.1	ENSP00000264651	Q2M2I5		UPI000013D54D	NM_019016.2	tolerated_low_confidence(0.29)		1/8		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF207,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	40703619	40703619	G	T	1	0	0	0	0	1	0	0	0	8343	1310	46	2		2	KRT24	17	40703619	Missense_Mutation	SNP	G	C3N-01823_TP	1037833	40703619	42553822	400	27743											
EFTUD2	0	.	GRCh38	chr17	44872503	44872503	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaagcagatgctgtactGggagctggagaagcagacgt	11	7	16	7	2	0	4	0	1	0	3	0	6	0	5	0	2	5	5	0	2	3	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.937C>T	p.Gln313Ter	p.Q313*	ENST00000426333	11/28	280	203	77	143	143	0	strelka-varscan-mutect	EFTUD2,stop_gained,p.Gln313Ter,ENST00000426333,NM_004247.3;EFTUD2,stop_gained,p.Gln313Ter,ENST00000591382,NM_001258353.1;EFTUD2,stop_gained,p.Gln303Ter,ENST00000592576,NM_001258354.1;EFTUD2,stop_gained,p.Gln278Ter,ENST00000402521,NM_001142605.1;EFTUD2,synonymous_variant,p.=,ENST00000591856,;EFTUD2,non_coding_transcript_exon_variant,,ENST00000590367,;EFTUD2,upstream_gene_variant,,ENST00000586654,;EFTUD2,downstream_gene_variant,,ENST00000588374,;EFTUD2,downstream_gene_variant,,ENST00000587957,;EFTUD2,downstream_gene_variant,,ENST00000593200,;	A	ENST00000426333	Transcript	stop_gained	1235/4548	937/2919	313/972	Q/*	Cag/Tag		1		-1	EFTUD2	HGNC	HGNC:30858	protein_coding	YES	CCDS11489.1	ENSP00000392094	Q15029		UPI0000137931	NM_004247.3			11/28		PROSITE_profiles:PS51722,hmmpanther:PTHR23115:SF5,hmmpanther:PTHR23115,Pfam_domain:PF00009,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	83	44872503	44872503	G	A	1	0	0	0	0	0	1	0	0	4797	1357	47	3		3	EFTUD2	17	44872503	Nonsense_Mutation	SNP	G	C3N-01823_TP	4168884	44872503	38384938	401	27744											
TOM1L1	0	.	GRCh38	chr17	54938947	54938947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagccttccaagttctgatGtaacaaacaacttaaaaccc	15	10	4	12	0	2	1	1	1	1	0	3	1	3	1	3	0	5	2	3	0	6	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1057G>A	p.Val353Ile	p.V353I	ENST00000575882	11/16	191	181	10	136	136	0	strelka-mutect	TOM1L1,missense_variant,p.Val353Ile,ENST00000575882,NM_001321175.1,NM_001321176.1,NM_005486.2;TOM1L1,missense_variant,p.Val353Ile,ENST00000445275,;TOM1L1,missense_variant,p.Val276Ile,ENST00000348161,;TOM1L1,missense_variant,p.Val276Ile,ENST00000536554,;TOM1L1,missense_variant,p.Val346Ile,ENST00000572158,;TOM1L1,missense_variant,p.Val9Ile,ENST00000574318,;TOM1L1,downstream_gene_variant,,ENST00000570371,;TOM1L1,downstream_gene_variant,,ENST00000575333,NM_001321173.1;TOM1L1,downstream_gene_variant,,ENST00000572576,;TOM1L1,missense_variant,p.Val276Ile,ENST00000576932,;TOM1L1,3_prime_UTR_variant,,ENST00000571319,;TOM1L1,non_coding_transcript_exon_variant,,ENST00000574653,;TOM1L1,non_coding_transcript_exon_variant,,ENST00000572905,;TOM1L1,downstream_gene_variant,,ENST00000570623,;	A	ENST00000575882	Transcript	missense_variant	1410/2507	1057/1431	353/476	V/I	Gta/Ata		1		1	TOM1L1	HGNC	HGNC:11983	protein_coding	YES	CCDS11582.1	ENSP00000460823	O75674		UPI000003E7E0	NM_001321175.1,NM_001321176.1,NM_005486.2	tolerated(0.25)		11/16		PIRSF_domain:PIRSF036948																	MODERATE	1	SNV	1			1										PASS		rs542984667	.												A	3	1	83	54938947	54938947	G	A	1	0	0	0	0	1	0	0	0	16826	1377	48	3		3	TOM1L1	17	54938947	Missense_Mutation	SNP	G	C3N-01823_TP	10066444	54938947	28318494	402	27745											
MARCH10	0	.	GRCh38	chr17	62736822	62736822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctcaatgagccatgactgGgctcacttcttcttgaagaa	10	13	8	10	0	4	4	2	3	3	1	5	4	4	4	1	1	1	1	1	1	3	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1160C>T	p.Pro387Leu	p.P387L	ENST00000583600	7/12	664	548	116	340	340	0	strelka-varscan-mutect	MARCH10,missense_variant,p.Pro348Leu,ENST00000544856,NM_001288780.1;MARCH10,missense_variant,p.Pro387Leu,ENST00000583600,NM_001288779.1;MARCH10,missense_variant,p.Pro349Leu,ENST00000311269,NM_152598.3;MARCH10,missense_variant,p.Pro349Leu,ENST00000456609,NM_001100875.2;MARCH10,missense_variant,p.Pro217Leu,ENST00000580520,;RP11-156L14.1,non_coding_transcript_exon_variant,,ENST00000577270,;RP11-156L14.1,non_coding_transcript_exon_variant,,ENST00000582564,;RP11-156L14.1,downstream_gene_variant,,ENST00000579201,;RP11-156L14.1,downstream_gene_variant,,ENST00000584597,;MARCH10,upstream_gene_variant,,ENST00000579620,;	A	ENST00000583600	Transcript	missense_variant	1445/3214	1160/2541	387/846	P/L	cCc/cTc		1		-1	MARCH10	HGNC	HGNC:26655	protein_coding	YES	CCDS74123.1	ENSP00000463080		J3KTN9	UPI0000EE65AE	NM_001288779.1	tolerated(0.22)		7/12		hmmpanther:PTHR14471,hmmpanther:PTHR14471:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	62736822	62736822	G	A	1	0	0	0	0	1	0	0	0	9224	1232	43	3		3	MARCH10	17	62736822	Missense_Mutation	SNP	G	C3N-01823_TP	7797875	62736822	20520619	403	27746											
CYB561	0	.	GRCh38	chr17	63434414	63434414	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgcatcactgggagccGgggctatctccctccgtcag	5	7	14	15	4	3	0	2	0	1	0	5	1	4	1	3	4	1	2	3	4	1	1	rs148303921		C3N-01823_TP	C3N-01823_NB	G	G																c.744C>A	p.=	p.P248P	ENST00000392976	6/6	97	77	20	44	44	0	strelka-varscan-mutect	CYB561,synonymous_variant,p.=,ENST00000392976,NM_001017916.1;CYB561,synonymous_variant,p.=,ENST00000392975,NM_001017917.1;CYB561,synonymous_variant,p.=,ENST00000360793,NM_001915.3;CYB561,synonymous_variant,p.=,ENST00000581573,;CYB561,synonymous_variant,p.=,ENST00000542042,;CYB561,synonymous_variant,p.=,ENST00000582034,;CYB561,synonymous_variant,p.=,ENST00000580691,;CYB561,synonymous_variant,p.=,ENST00000582997,;CYB561,synonymous_variant,p.=,ENST00000584291,;CYB561,3_prime_UTR_variant,,ENST00000584031,;CYB561,3_prime_UTR_variant,,ENST00000448884,;CYB561,3_prime_UTR_variant,,ENST00000585153,;CYB561,intron_variant,,ENST00000582297,;CYB561,downstream_gene_variant,,ENST00000578072,;CYB561,downstream_gene_variant,,ENST00000580592,;RP11-269G24.4,upstream_gene_variant,,ENST00000584608,;RP11-269G24.3,upstream_gene_variant,,ENST00000583552,;CYB561,non_coding_transcript_exon_variant,,ENST00000581163,;CYB561,downstream_gene_variant,,ENST00000577989,;CYB561,downstream_gene_variant,,ENST00000578016,;CYB561,non_coding_transcript_exon_variant,,ENST00000582143,;CYB561,downstream_gene_variant,,ENST00000577368,;CYB561,downstream_gene_variant,,ENST00000583478,;	T	ENST00000392976	Transcript	synonymous_variant	1044/3151	744/756	248/251	P	ccC/ccA	rs148303921,COSM5561973	1		-1	CYB561	HGNC	HGNC:2571	protein_coding	YES	CCDS11636.1	ENSP00000376702	P49447		UPI0000126C79	NM_001017916.1			6/6		hmmpanther:PTHR10106,hmmpanther:PTHR10106:SF14											0,1						LOW	1	SNV	3		0,1	1										PASS		rs148303921	.												T	2	4	83	63434414	63434414	G	T	1	0	0	0	0	0	0	0	1	3922	1103	39	1		1	CYB561	17	63434414	Silent	SNP	G	C3N-01823_TP	697592	63434414	19823027	404	27747											
KIF19	0	.	GRCh38	chr17	74343070	74343070	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagaccaggagcctggCatctatgttcagaccctcaa	11	7	10	13	0	3	2	2	0	1	2	3	3	3	3	3	3	1	3	3	3	2	2	rs145969437		C3N-01823_TP	C3N-01823_NB	C	C																c.366C>A	p.=	p.G122G	ENST00000389916	5/20	349	298	51	179	179	0	strelka-varscan-mutect	KIF19,synonymous_variant,p.=,ENST00000389916,NM_153209.3;KIF19,synonymous_variant,p.=,ENST00000551294,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;	A	ENST00000389916	Transcript	synonymous_variant	504/3643	366/2997	122/998	G	ggC/ggA	rs145969437	1		1	KIF19	HGNC	HGNC:26735	protein_coding	YES	CCDS32718.2	ENSP00000374566	Q2TAC6		UPI0000F0A553	NM_153209.3			5/20		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF434,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		rs145969437	.												A	2	1	83	74343070	74343070	C	A	1	0	0	0	0	0	0	0	1	8146	697	25	2		2	KIF19	17	74343070	Silent	SNP	C	C3N-01823_TP	10908656	74343070	8914371	405	27748											
TNRC6C	0	.	GRCh38	chr17	78075162	78075162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaaaagaaggtggacGtggacaagcgtgggctggga	11	6	19	5	2	0	1	0	0	0	1	0	5	0	5	0	6	2	2	0	6	4	0			C3N-01823_TP	C3N-01823_NB	G	G																c.2935G>A	p.Val979Met	p.V979M	ENST00000335749	8/21	329	277	52	177	177	0	strelka-varscan-mutect	TNRC6C,missense_variant,p.Val979Met,ENST00000335749,NM_001142640.1;TNRC6C,missense_variant,p.Val982Met,ENST00000301624,NM_018996.3;TNRC6C,missense_variant,p.Val979Met,ENST00000588847,;TNRC6C,missense_variant,p.Val982Met,ENST00000588061,;TNRC6C,missense_variant,p.Val1189Met,ENST00000636222,;TNRC6C,non_coding_transcript_exon_variant,,ENST00000591851,;TNRC6C,non_coding_transcript_exon_variant,,ENST00000587990,;	A	ENST00000335749	Transcript	missense_variant	3504/9740	2935/5181	979/1726	V/M	Gtg/Atg	COSM1153162,COSM985011	1		1	TNRC6C	HGNC	HGNC:29318	protein_coding	YES	CCDS45799.1	ENSP00000336783	Q9HCJ0		UPI0000EE5F80	NM_001142640.1	tolerated(0.94)		8/21		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF9,Superfamily_domains:SSF46934											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1212900362	.												A	3	1	83	78075162	78075162	G	A	1	0	0	0	0	1	0	0	0	16815	1145	40	1		1	TNRC6C	17	78075162	Missense_Mutation	SNP	G	C3N-01823_TP	3732092	78075162	5182279	406	27749											
TK1	0	.	GRCh38	chr17	78185153	78185153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagcgacggacgcgtctCatcaactctgtgctgcaaga	10	8	12	11	4	3	1	2	0	2	1	4	4	3	3	0	2	4	2	0	2	3	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.111G>A	p.Met37Ile	p.M37I	ENST00000301634	3/7	204	188	16	100	100	0	strelka-varscan-mutect	TK1,missense_variant,p.Met37Ile,ENST00000588734,;TK1,missense_variant,p.Met37Ile,ENST00000301634,NM_003258.4;TK1,missense_variant,p.Met37Ile,ENST00000590430,;TK1,missense_variant,p.Met37Ile,ENST00000590862,;TK1,missense_variant,p.Met37Ile,ENST00000586613,;AFMID,upstream_gene_variant,,ENST00000409257,NM_001010982.4;AFMID,upstream_gene_variant,,ENST00000327898,NM_001145526.2;AFMID,upstream_gene_variant,,ENST00000588800,;AFMID,upstream_gene_variant,,ENST00000591256,;AFMID,upstream_gene_variant,,ENST00000591952,;AFMID,upstream_gene_variant,,ENST00000589256,;AFMID,upstream_gene_variant,,ENST00000586542,;AFMID,upstream_gene_variant,,ENST00000586731,;TK1,non_coding_transcript_exon_variant,,ENST00000592126,;AFMID,upstream_gene_variant,,ENST00000592988,;AFMID,upstream_gene_variant,,ENST00000588199,;AFMID,upstream_gene_variant,,ENST00000589107,;	T	ENST00000301634	Transcript	missense_variant	350/1628	111/705	37/234	M/I	atG/atA		1		-1	TK1	HGNC	HGNC:11830	protein_coding	YES	CCDS11754.1	ENSP00000301634	P04183		UPI000012DE94	NM_003258.4	tolerated(0.71)		3/7		hmmpanther:PTHR11441,hmmpanther:PTHR11441:SF0,Pfam_domain:PF00265,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	78185153	78185153	C	T	1	0	0	0	0	1	0	0	0	16374	826	29	3		3	TK1	17	78185153	Missense_Mutation	SNP	C	C3N-01823_TP	109991	78185153	5072288	407	27750											
DNAH17	0	.	GRCh38	chr17	78510481	78510481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtaaatctgccagggtcGtctcttctgacattttaaat	10	14	8	9	1	3	1	0	1	3	0	5	1	3	1	1	1	1	2	1	1	4	4	rs758994124		C3N-01823_TP	C3N-01823_NB	G	G																c.4139C>A	p.Thr1380Lys	p.T1380K	ENST00000389840	27/81	233	176	57	93	93	0	strelka-varscan-mutect	DNAH17,missense_variant,p.Thr1380Lys,ENST00000389840,NM_173628.3;DNAH17,missense_variant,p.Thr1377Lys,ENST00000585328,;DNAH17,non_coding_transcript_exon_variant,,ENST00000587177,;	T	ENST00000389840	Transcript	missense_variant	4264/13723	4139/13389	1380/4462	T/K	aCg/aAg	rs758994124	1		-1	DNAH17	HGNC	HGNC:2946	protein_coding	YES		ENSP00000374490	Q9UFH2		UPI0001B25601	NM_173628.3	deleterious(0)		27/81		Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF284																	MODERATE	1	SNV	5			1										PASS		rs758994124	.												T	3	4	83	78510481	78510481	G	T	1	0	0	0	0	1	0	0	0	4416	1145	40	1		1	DNAH17	17	78510481	Missense_Mutation	SNP	G	C3N-01823_TP	325328	78510481	4746960	408	27751											
SMCHD1	0	.	GRCh38	chr18	2722649	2722649	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtaactgatattcagccAgttcttgaagcaaggtaatt	13	13	8	7	0	2	2	1	2	1	0	2	2	2	2	1	1	3	4	1	1	6	8	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.2589A>G	p.=	p.P863P	ENST00000320876	20/48	158	138	20	98	98	0	strelka-varscan-mutect	SMCHD1,synonymous_variant,p.=,ENST00000320876,NM_015295.2;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,synonymous_variant,p.=,ENST00000577880,;SMCHD1,intron_variant,,ENST00000584897,;SMCHD1,upstream_gene_variant,,ENST00000581383,;SMCHD1,downstream_gene_variant,,ENST00000581711,;	G	ENST00000320876	Transcript	synonymous_variant	2927/8821	2589/6018	863/2005	P	ccA/ccG		1		1	SMCHD1	HGNC	HGNC:29090	protein_coding	YES	CCDS45822.1	ENSP00000326603	A6NHR9		UPI00001D7AAD	NM_015295.2			20/48		hmmpanther:PTHR22640,hmmpanther:PTHR22640:SF2																	LOW		SNV	5			1										PASS		.	.												G	2	3	83	2722649	2722649	A	G	1	0	0	0	0	0	0	0	1	15081	175	7	5		5	SMCHD1	18	2722649	Silent	SNP	A	C3N-01823_TP		2722649	77650636	409	27752											
ARHGAP28	0	.	GRCh38	chr18	6859812	6859812	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttctccatttagccagAtgatgcttctctcaacagta	10	16	5	10	0	3	2	1	1	2	1	5	2	3	2	2	0	3	2	2	0	4	6	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.164A>T	p.Asp55Val	p.D55V	ENST00000419673	4/17	209	169	40	151	151	0	strelka-varscan-mutect	ARHGAP28,missense_variant,p.Asp55Val,ENST00000419673,NM_001010000.2;ARHGAP28,missense_variant,p.Asp55Val,ENST00000314319,;ARHGAP28,missense_variant,p.Asp162Val,ENST00000262227,;ARHGAP28,missense_variant,p.Asp214Val,ENST00000383472,;ARHGAP28,missense_variant,p.Asn50Ile,ENST00000531294,;ARHGAP28,missense_variant,p.Asp37Val,ENST00000532996,;ARHGAP28,missense_variant,p.Asp55Val,ENST00000581099,;ARHGAP28,intron_variant,,ENST00000577524,;ARHGAP28,intron_variant,,ENST00000584287,;	T	ENST00000419673	Transcript	missense_variant	381/5492	164/1713	55/570	D/V	gAt/gTt		1		1	ARHGAP28	HGNC	HGNC:25509	protein_coding	YES	CCDS32785.1	ENSP00000392660	Q9P2N2		UPI00004CEC5C	NM_001010000.2	tolerated(0.15)		4/17																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	6859812	6859812	A	T	1	0	0	0	0	1	0	0	0	1002	347	12	4		4	ARHGAP28	18	6859812	Missense_Mutation	SNP	A	C3N-01823_TP	4137163	6859812	73513473	410	27753											
LAMA1	0	.	GRCh38	chr18	6958545	6958545	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgagcagtgacgtcccCtctccctctggaattccccc	6	11	8	16	1	2	2	0	2	2	0	5	3	4	3	5	1	1	1	5	1	1	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.7896G>T	p.Glu2632Asp	p.E2632D	ENST00000389658	55/63	303	251	52	185	184	1	strelka-varscan-mutect	LAMA1,missense_variant,p.Glu2632Asp,ENST00000389658,NM_005559.3;RP11-781P6.1,downstream_gene_variant,,ENST00000584722,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488089,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,upstream_gene_variant,,ENST00000492048,;	A	ENST00000389658	Transcript	missense_variant	7990/9657	7896/9228	2632/3075	E/D	gaG/gaT		1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	tolerated(0.48)		55/63		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	83	6958545	6958545	C	A	1	0	0	0	0	1	0	0	0	8509	680	24	2		2	LAMA1	18	6958545	Missense_Mutation	SNP	C	C3N-01823_TP	98733	6958545	73414740	411	27754											
PIEZO2	0	.	GRCh38	chr18	10800389	10800389	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggggtggagtagaggtcGgctttgccagggccgttctc	5	10	18	8	2	1	2	0	1	1	1	3	3	1	3	2	6	1	3	2	6	1	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1326C>A	p.=	p.A442A	ENST00000503781	11/52	265	227	38	185	185	0	strelka-varscan-mutect	PIEZO2,synonymous_variant,p.=,ENST00000383408,;PIEZO2,synonymous_variant,p.=,ENST00000302079,;PIEZO2,synonymous_variant,p.=,ENST00000580640,;PIEZO2,synonymous_variant,p.=,ENST00000503781,NM_022068.3;PIEZO2,synonymous_variant,p.=,ENST00000579112,;PIEZO2,synonymous_variant,p.=,ENST00000582913,;	T	ENST00000503781	Transcript	synonymous_variant	1326/8259	1326/8259	442/2752	A	gcC/gcA		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3			11/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24																	LOW	1	SNV	1			1										PASS		rs1259744368	.												T	2	4	83	10800389	10800389	G	T	1	0	0	0	0	0	0	0	1	11975	1103	39	1		1	PIEZO2	18	10800389	Silent	SNP	G	C3N-01823_TP	3841844	10800389	69572896	412	27755											
DSC2	0	.	GRCh38	chr18	31074904	31074904	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtccccgtacatgttctcCctcctagaaaaatgaaaata	13	11	6	11	1	1	2	0	1	1	1	4	2	3	2	4	0	1	2	4	0	7	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1667G>T	p.Gly556Val	p.G556V	ENST00000280904	12/16	504	434	70	403	402	1	strelka-varscan-mutect	DSC2,missense_variant,p.Gly556Val,ENST00000280904,NM_024422.4;DSC2,missense_variant,p.Gly556Val,ENST00000251081,NM_004949.4;	A	ENST00000280904	Transcript	missense_variant	2111/12325	1667/2706	556/901	G/V	gGg/gTg		1		-1	DSC2	HGNC	HGNC:3036	protein_coding	YES	CCDS11892.1	ENSP00000280904	Q02487		UPI00001298F9	NM_024422.4	deleterious(0)		12/16		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR01818,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF0,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs977269905	.												A	3	1	83	31074904	31074904	C	A	1	0	0	0	0	1	0	0	0	4587	637	22	2		2	DSC2	18	31074904	Missense_Mutation	SNP	C	C3N-01823_TP	20274515	31074904	49298381	413	27756											
CCDC178	0	.	GRCh38	chr18	33224819	33224819	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgattctttcagcttcatCttctagttgaagcagaggtt	8	17	8	8	0	6	3	2	2	4	1	6	3	6	3	0	1	2	4	0	1	2	7	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1774G>T	p.Asp592Tyr	p.D592Y	ENST00000583930	16/23	99	82	17	74	74	0	strelka-mutect	CCDC178,missense_variant,p.Asp592Tyr,ENST00000383096,;CCDC178,missense_variant,p.Asp592Tyr,ENST00000403303,NM_001105528.1;CCDC178,missense_variant,p.Asp592Tyr,ENST00000583930,;CCDC178,missense_variant,p.Asp592Tyr,ENST00000300227,NM_198995.2;CCDC178,missense_variant,p.Asp592Tyr,ENST00000406524,;CCDC178,missense_variant,p.Asp592Tyr,ENST00000579947,;CCDC178,missense_variant,p.Asp139Tyr,ENST00000581524,;CCDC178,intron_variant,,ENST00000579916,;	A	ENST00000583930	Transcript	missense_variant	1853/3094	1774/2676	592/891	D/Y	Gat/Tat		1		-1	CCDC178	HGNC	HGNC:29588	protein_coding	YES	CCDS77174.1	ENSP00000463254		F8W7A7	UPI00020655A5		deleterious(0.01)		16/23		Low_complexity_(Seg):seg,hmmpanther:PTHR35088:SF1,hmmpanther:PTHR35088																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	33224819	33224819	C	A	1	0	0	0	0	1	0	0	0	2493	913	32	2		2	CCDC178	18	33224819	Missense_Mutation	SNP	C	C3N-01823_TP	2149915	33224819	47148466	414	27757											
MOCOS	0	.	GRCh38	chr18	36260143	36260143	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttttgaagaagagaaatggGatgagatttcaattggctct	13	13	11	4	0	2	4	1	2	1	3	2	7	2	5	0	2	0	1	0	2	4	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2377G>C	p.Asp793His	p.D793H	ENST00000261326	13/15	536	509	27	351	351	0	strelka-mutect	MOCOS,missense_variant,p.Asp793His,ENST00000261326,NM_017947.2;MOCOS,non_coding_transcript_exon_variant,,ENST00000588132,;	C	ENST00000261326	Transcript	missense_variant	2398/6160	2377/2667	793/888	D/H	Gat/Cat		1		1	MOCOS	HGNC	HGNC:18234	protein_coding	YES	CCDS11919.1	ENSP00000261326	Q96EN8		UPI000013D165	NM_017947.2	tolerated(0.11)		13/15		HAMAP:MF_03050,Pfam_domain:PF03473,PROSITE_profiles:PS51340,hmmpanther:PTHR14237,hmmpanther:PTHR14237:SF19,Superfamily_domains:SSF50800																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	36260143	36260143	G	C	1	0	0	0	0	1	0	0	0	9652	1174	41	4		4	MOCOS	18	36260143	Missense_Mutation	SNP	G	C3N-01823_TP	3035324	36260143	44113142	415	27758											
MBD1	0	.	GRCh38	chr18	50276851	50276851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaggagcagggaatgaagCtggggctgtgtcagtgtcag	9	7	17	8	0	2	1	2	1	0	0	2	3	2	3	1	4	2	3	1	4	2	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.373G>T	p.Ala125Ser	p.A125S	ENST00000590208	4/16	656	551	105	442	440	2	strelka-varscan-mutect	MBD1,missense_variant,p.Ala125Ser,ENST00000591416,;MBD1,missense_variant,p.Ala125Ser,ENST00000269468,NM_015846.3;MBD1,missense_variant,p.Ala125Ser,ENST00000347968,NM_015844.2;MBD1,missense_variant,p.Ala125Ser,ENST00000269471,NM_015845.3;MBD1,missense_variant,p.Ala125Ser,ENST00000339998,NM_001204142.1;MBD1,missense_variant,p.Ala125Ser,ENST00000590208,NM_001204136.1;MBD1,missense_variant,p.Ala125Ser,ENST00000353909,NM_015847.3;MBD1,missense_variant,p.Ala125Ser,ENST00000585672,NM_001204141.1;MBD1,missense_variant,p.Ala125Ser,ENST00000457839,NM_001204137.1,NM_001204138.1;MBD1,missense_variant,p.Ala125Ser,ENST00000382948,NM_001204139.1;MBD1,missense_variant,p.Ala125Ser,ENST00000585595,;MBD1,missense_variant,p.Ala125Ser,ENST00000398495,NM_001204140.1;MBD1,missense_variant,p.Ala50Ser,ENST00000592060,;MBD1,missense_variant,p.Ala125Ser,ENST00000587605,NM_001204143.1;MBD1,missense_variant,p.Ala125Ser,ENST00000398493,;MBD1,missense_variant,p.Ala125Ser,ENST00000588937,;MBD1,missense_variant,p.Ala125Ser,ENST00000591535,NM_001204151.1;MBD1,missense_variant,p.Ala125Ser,ENST00000398488,NM_002384.2;MBD1,upstream_gene_variant,,ENST00000589541,;MBD1,upstream_gene_variant,,ENST00000589733,;MBD1,3_prime_UTR_variant,,ENST00000590215,;MBD1,non_coding_transcript_exon_variant,,ENST00000586118,;MBD1,non_coding_transcript_exon_variant,,ENST00000589867,;MBD1,upstream_gene_variant,,ENST00000586679,;MBD1,upstream_gene_variant,,ENST00000586884,;MBD1,upstream_gene_variant,,ENST00000591661,;MBD1,downstream_gene_variant,,ENST00000589758,;	A	ENST00000590208	Transcript	missense_variant	720/2913	373/1968	125/655	A/S	Gct/Tct		1		-1	MBD1	HGNC	HGNC:6916	protein_coding	YES	CCDS59320.1	ENSP00000468785	Q9UIS9		UPI0001F995B6	NM_001204136.1	tolerated(0.23)		4/16		hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	50276851	50276851	C	A	1	0	0	0	0	1	0	0	0	9271	797	28	2		2	MBD1	18	50276851	Missense_Mutation	SNP	C	C3N-01823_TP	14016708	50276851	30096434	416	27759											
MALT1	0	.	GRCh38	chr18	58715955	58715955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataataaagagcaaacaactGaccagcctttgggtgagtag	16	8	10	7	0	0	3	0	2	0	1	0	3	0	3	2	1	4	2	2	1	6	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1006G>A	p.Asp336Asn	p.D336N	ENST00000348428	9/17	173	162	11	160	160	0	strelka-varscan-mutect	MALT1,missense_variant,p.Asp336Asn,ENST00000348428,NM_006785.3;MALT1,missense_variant,p.Asp325Asn,ENST00000345724,NM_173844.2;RP11-126O1.4,intron_variant,,ENST00000588835,;	A	ENST00000348428	Transcript	missense_variant	1264/9368	1006/2475	336/824	D/N	Gac/Aac		1		1	MALT1	HGNC	HGNC:6819	protein_coding	YES	CCDS11967.1	ENSP00000319279	Q9UDY8		UPI000004D05E	NM_006785.3	tolerated(0.41)		9/17		hmmpanther:PTHR22576,hmmpanther:PTHR22576:SF29,Superfamily_domains:SSF52129																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	58715955	58715955	G	A	1	0	0	0	0	1	0	0	0	9123	1290	45	3		3	MALT1	18	58715955	Missense_Mutation	SNP	G	C3N-01823_TP	8439104	58715955	21657330	417	27760											
ZNF407	0	.	GRCh38	chr18	74632586	74632586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacagtgaagccagcttctGgctctcagacgttgtgtgct	7	12	12	10	1	2	3	1	2	2	1	3	3	2	3	1	1	3	4	1	1	1	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1567G>T	p.Gly523Cys	p.G523C	ENST00000299687	1/8	299	275	24	181	180	1	strelka-varscan-mutect	ZNF407,missense_variant,p.Gly523Cys,ENST00000299687,NM_017757.2;ZNF407,missense_variant,p.Gly523Cys,ENST00000577538,NM_001146189.1;ZNF407,missense_variant,p.Gly523Cys,ENST00000582337,;ZNF407,missense_variant,p.Gly523Cys,ENST00000309902,NM_001146190.1;	T	ENST00000299687	Transcript	missense_variant	1567/7948	1567/6747	523/2248	G/C	Ggc/Tgc		1		1	ZNF407	HGNC	HGNC:19904	protein_coding	YES	CCDS45885.1	ENSP00000299687	Q9C0G0		UPI0000F58ED1	NM_017757.2	deleterious(0)		1/8																			MODERATE	1	SNV	1			1										PASS		rs1252500651	.												T	3	4	83	74632586	74632586	G	T	1	0	0	0	0	1	0	0	0	18459	1348	47	2		2	ZNF407	18	74632586	Missense_Mutation	SNP	G	C3N-01823_TP	15916631	74632586	5740699	418	27761											
SALL3	0	.	GRCh38	chr18	78992357	78992357	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcggagggcgcggagggCgaggccaggccggtggagaa	7	2	24	8	5	0	1	0	0	0	1	0	5	0	3	2	9	1	0	2	9	1	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.366C>A	p.=	p.G122G	ENST00000537592	2/3	53	49	4	44	44	0	strelka-mutect	SALL3,synonymous_variant,p.=,ENST00000537592,NM_171999.3;SALL3,synonymous_variant,p.=,ENST00000575389,;SALL3,5_prime_UTR_variant,,ENST00000536229,;SALL3,intron_variant,,ENST00000616649,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	A	ENST00000537592	Transcript	synonymous_variant	366/6555	366/3903	122/1300	G	ggC/ggA		1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3			2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46																	LOW	1	SNV	5			1										PASS		rs1466740497	.												A	2	1	83	78992357	78992357	C	A	1	0	0	0	0	0	0	0	1	14071	755	27	1		1	SALL3	18	78992357	Silent	SNP	C	C3N-01823_TP	4359771	78992357	1380928	419	27762											
STK11	0	.	GRCh38	chr19	1207105	1207105	+	Missense_Mutation	SNP	G	G	T																															ggctcttacggcaaggtgaaGgaggtgctggactcggagac																								novel		C3N-01823_TP	C3N-01823_NB	G	G																c.192G>T	p.Lys64Asn	p.K64N	ENST00000326873	1/10	399	340	59	269	267	2	strelka-varscan-mutect	STK11,missense_variant,p.Lys64Asn,ENST00000586243,;STK11,missense_variant,p.Lys64Asn,ENST00000326873,NM_000455.4;STK11,missense_variant,p.Lys64Asn,ENST00000585851,;STK11,intron_variant,,ENST00000585748,;STK11,missense_variant,p.Lys64Asn,ENST00000593219,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;HMGB2P1,downstream_gene_variant,,ENST00000591146,;	T	ENST00000326873	Transcript	missense_variant	642/2611	192/1302	64/433	K/N	aaG/aaT		1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4	deleterious(0)		1/10		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	1207105	1207105	G	T	1	0	0	0	0	1	0	0	0	15664	991	35	2		2	STK11	19	1207105	Missense_Mutation	SNP	G	C3N-01823_TP		1207105	57410511	420	27763	582	2									
STK11	0	.	GRCh38	chr19	1207106	1207106	+	Nonsense_Mutation	SNP	G	G	T																															gctcttacggcaaggtgaagGaggtgctggactcggagacg																										C3N-01823_TP	C3N-01823_NB	G	G																c.193G>T	p.Glu65Ter	p.E65*	ENST00000326873	1/10	398	339	59	268	268	0	strelka-varscan-mutect	STK11,stop_gained,p.Glu65Ter,ENST00000586243,;STK11,stop_gained,p.Glu65Ter,ENST00000326873,NM_000455.4;STK11,stop_gained,p.Glu65Ter,ENST00000585851,;STK11,intron_variant,,ENST00000585748,;STK11,stop_gained,p.Glu65Ter,ENST00000593219,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;HMGB2P1,downstream_gene_variant,,ENST00000591146,;	T	ENST00000326873	Transcript	stop_gained	643/2611	193/1302	65/433	E/*	Gag/Tag	COSM20876	1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4			1/10		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	83	1207106	1207106	G	T	1	0	0	0	0	0	1	0	0	15664	1175	41	2		2	STK11	19	1207106	Nonsense_Mutation	SNP	G	C3N-01823_TP	1	1207106	57410510	421	27764	582	2									
ZNF556	0	.	GRCh38	chr19	2877581	2877581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctatgcctgtcaatcttGcgggaagacatttcttcgtt	8	14	8	11	2	3	1	1	0	2	1	4	2	3	2	2	1	2	1	2	1	3	5	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.623G>A	p.Cys208Tyr	p.C208Y	ENST00000307635	4/4	408	333	75	269	269	0	strelka-varscan-mutect	ZNF556,missense_variant,p.Cys208Tyr,ENST00000307635,NM_024967.2;ZNF556,missense_variant,p.Cys207Tyr,ENST00000586426,NM_001300843.1;ZNF556,downstream_gene_variant,,ENST00000586470,;AC006130.4,upstream_gene_variant,,ENST00000586202,;	A	ENST00000307635	Transcript	missense_variant	710/6574	623/1371	208/456	C/Y	tGc/tAc		1		1	ZNF556	HGNC	HGNC:25669	protein_coding	YES	CCDS12097.1	ENSP00000302603	Q9HAH1		UPI000006DA0F	NM_024967.2	deleterious(0)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF163,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	83	2877581	2877581	G	A	1	0	0	0	0	1	0	0	0	18561	1319	46	3		3	ZNF556	19	2877581	Missense_Mutation	SNP	G	C3N-01823_TP	1670475	2877581	55740035	422	27765											
MUC16	0	.	GRCh38	chr19	8965816	8965816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtactggtctctgtctttaCagctgaagcatcagaggatg	9	13	11	8	0	3	2	1	1	2	1	4	3	3	3	0	2	4	3	0	2	3	3	rs370110448		C3N-01823_TP	C3N-01823_NB	C	C																c.10954G>T	p.Val3652Leu	p.V3652L	ENST00000397910	3/84	103	85	18	45	45	0	strelka-varscan-mutect	MUC16,missense_variant,p.Val3652Leu,ENST00000397910,NM_024690.2;	A	ENST00000397910	Transcript	missense_variant	11158/43816	10954/43524	3652/14507	V/L	Gta/Tta	rs370110448	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			MODERATE	1	SNV	5			1										PASS		rs370110448	.												A	3	1	83	8965816	8965816	C	A	1	0	0	0	0	1	0	0	0	9972	478	17	2		2	MUC16	19	8965816	Missense_Mutation	SNP	C	C3N-01823_TP	6088235	8965816	49651800	423	27766											
KEAP1	0	.	GRCh38	chr19	10489679	10489679	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggatggtgttcattgctgtGatcattcgccactcgttcct	5	15	10	11	3	2	1	2	1	0	0	5	2	3	2	2	2	1	3	2	2	0	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1500C>G	p.Ile500Met	p.I500M	ENST00000171111	4/6	355	334	21	185	185	0	strelka-varscan-mutect	KEAP1,missense_variant,p.Ile500Met,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Ile500Met,ENST00000393623,NM_012289.3;KEAP1,missense_variant,p.Ile107Met,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000592055,;CTC-429L19.3,downstream_gene_variant,,ENST00000592671,;KEAP1,downstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000590593,;KEAP1,downstream_gene_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590237,;	C	ENST00000171111	Transcript	missense_variant	2048/2955	1500/1875	500/624	I/M	atC/atG		1		-1	KEAP1	HGNC	HGNC:23177	protein_coding	YES	CCDS12239.1	ENSP00000171111	Q14145	A0A024R7C0	UPI000007139C	NM_203500.1	tolerated(0.22)		4/6		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	10489679	10489679	G	C	1	0	0	0	0	1	0	0	0	8061	1280	45	4		4	KEAP1	19	10489679	Missense_Mutation	SNP	G	C3N-01823_TP	1523863	10489679	48127937	424	27767											
KEAP1	0	.	GRCh38	chr19	10492208	10492208	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaggtcgtcccggctgaTgagggtcaccagttggcagt	6	10	15	10	2	2	2	2	2	0	0	4	2	3	2	2	4	0	4	2	4	0	2	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.694A>T	p.Ile232Phe	p.I232F	ENST00000171111	3/6	182	140	42	128	128	0	strelka-varscan-mutect	KEAP1,missense_variant,p.Ile232Phe,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Ile232Phe,ENST00000393623,NM_012289.3;KEAP1,missense_variant,p.Ile232Phe,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000592478,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,non_coding_transcript_exon_variant,,ENST00000588024,;KEAP1,3_prime_UTR_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590593,;KEAP1,upstream_gene_variant,,ENST00000590237,;	A	ENST00000171111	Transcript	missense_variant	1242/2955	694/1875	232/624	I/F	Atc/Ttc		1		-1	KEAP1	HGNC	HGNC:23177	protein_coding	YES	CCDS12239.1	ENSP00000171111	Q14145	A0A024R7C0	UPI000007139C	NM_203500.1	deleterious(0.02)		3/6		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,SMART_domains:SM00875																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	10492208	10492208	T	A	1	0	0	0	0	1	0	0	0	8061	1464	51	4		4	KEAP1	19	10492208	Missense_Mutation	SNP	T	C3N-01823_TP	2529	10492208	48125408	425	27768											
SMARCA4	0	.	GRCh38	chr19	11033518	11033518	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcacgaggagcaggatgagGtgagcccagcaccggccccg	10	2	16	13	3	0	2	0	2	0	0	0	5	0	4	4	4	4	3	4	4	0	0			C3N-01823_TP	C3N-01823_NB	G	G																c.3774+1G>T		p.X1258_splice	ENST00000429416		501	392	109	350	350	0	strelka-varscan-mutect	SMARCA4,splice_donor_variant,,ENST00000429416,NM_001128844.1;SMARCA4,splice_donor_variant,,ENST00000413806,;SMARCA4,splice_donor_variant,,ENST00000450717,NM_001128849.1;SMARCA4,splice_donor_variant,,ENST00000344626,NM_003072.3;SMARCA4,splice_donor_variant,,ENST00000590574,NM_001128847.1;SMARCA4,splice_donor_variant,,ENST00000589677,NM_001128846.1;SMARCA4,splice_donor_variant,,ENST00000541122,NM_001128845.1;SMARCA4,splice_donor_variant,,ENST00000444061,NM_001128848.1;SMARCA4,intron_variant,,ENST00000592158,;uc_338,upstream_gene_variant,,ENST00000620113,;SMARCA4,splice_donor_variant,,ENST00000538456,;SMARCA4,splice_donor_variant,,ENST00000585799,;SMARCA4,splice_donor_variant,,ENST00000591595,;SMARCA4,splice_donor_variant,,ENST00000592604,;SMARCA4,splice_donor_variant,,ENST00000586892,;SMARCA4,downstream_gene_variant,,ENST00000591545,;	T	ENST00000429416	Transcript	splice_donor_variant	-/5691	3774/4944	1258/1647			COSM3772494,COSM3772495	1		1	SMARCA4	HGNC	HGNC:11100	protein_coding	YES	CCDS12253.1	ENSP00000395654	P51532	A7E2E1	UPI000006F973	NM_001128844.1				27/35												1,1						HIGH	1	SNV	2		1,1	1										PASS		.	.												T	5	4	83	11033518	11033518	G	T	1	0	0	0	0	0	0	1	0	15063	1275	44	2		2	SMARCA4	19	11033518	Splice_Site	SNP	G	C3N-01823_TP	541310	11033518	47584098	426	27769											
GCDH	0	.	GRCh38	chr19	12899508	12899508	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatccttgggagagctatCacgggaatccaggcgttcac	9	9	12	11	2	2	2	2	1	0	1	4	4	4	3	2	3	1	2	2	3	2	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1284C>G	p.Ile428Met	p.I428M	ENST00000222214	12/12	562	527	35	412	412	0	strelka-varscan-mutect	GCDH,missense_variant,p.Ile428Met,ENST00000222214,NM_000159.3,NM_013976.3;GCDH,missense_variant,p.Ile428Met,ENST00000591470,;SYCE2,intron_variant,,ENST00000293695,NM_001105578.1;SYCE2,intron_variant,,ENST00000592819,;GCDH,intron_variant,,ENST00000591050,;GCDH,downstream_gene_variant,,ENST00000588905,;GCDH,downstream_gene_variant,,ENST00000590472,;GCDH,downstream_gene_variant,,ENST00000589039,;GCDH,upstream_gene_variant,,ENST00000588242,;GCDH,3_prime_UTR_variant,,ENST00000590530,;GCDH,non_coding_transcript_exon_variant,,ENST00000591043,;GCDH,non_coding_transcript_exon_variant,,ENST00000585420,;GCDH,downstream_gene_variant,,ENST00000421816,;RPS6P25,downstream_gene_variant,,ENST00000464444,;	G	ENST00000222214	Transcript	missense_variant	1495/1956	1284/1317	428/438	I/M	atC/atG		1		1	GCDH	HGNC	HGNC:4189	protein_coding	YES	CCDS12286.1	ENSP00000222214	Q92947	A0A024R7F9	UPI000012B292	NM_000159.3,NM_013976.3	tolerated_low_confidence(0.17)		12/12		hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF307,Pfam_domain:PF00441,Gene3D:1.20.140.10,Superfamily_domains:SSF47203																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	83	12899508	12899508	C	G	1	0	0	0	0	1	0	0	0	6157	816	29	4		4	GCDH	19	12899508	Missense_Mutation	SNP	C	C3N-01823_TP	1865990	12899508	45718108	427	27770											
CYP4F11	0	.	GRCh38	chr19	15924799	15924799	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctgaagacacatttctgCagactgtccaaggtcatgag	13	9	10	9	0	2	4	1	2	1	2	3	4	3	4	1	1	2	2	1	1	3	1	rs757082382		C3N-01823_TP	C3N-01823_NB	C	C																c.609G>C	p.=	p.L203L	ENST00000402119	5/12	306	244	62	208	208	0	strelka-varscan-mutect	CYP4F11,synonymous_variant,p.=,ENST00000402119,NM_021187.3;CYP4F11,synonymous_variant,p.=,ENST00000248041,NM_001128932.1;CYP4F11,synonymous_variant,p.=,ENST00000620614,;CYP4F11,synonymous_variant,p.=,ENST00000326742,;CYP4F11,intron_variant,,ENST00000591841,;	G	ENST00000402119	Transcript	synonymous_variant	1036/3161	609/1575	203/524	L	ctG/ctC	rs757082382	1		-1	CYP4F11	HGNC	HGNC:13265	protein_coding	YES	CCDS12337.1	ENSP00000384588	Q9HBI6		UPI000013CC35	NM_021187.3			5/12		hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF16,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	LOW	1	SNV	1			1										PASS		rs757082382	.												G	2	3	83	15924799	15924799	C	G	1	0	0	0	0	0	0	0	1	3989	697	25	4		4	CYP4F11	19	15924799	Silent	SNP	C	C3N-01823_TP	3025291	15924799	42692817	428	27771											
CYP4F11	0	.	GRCh38	chr19	15927305	15927305	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacatccgacggtggcggctCcacttgtcaccaccactcag	9	7	9	16	3	2	0	2	0	0	0	4	1	4	0	4	3	1	1	4	3	1	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.432G>A	p.Trp144Ter	p.W144*	ENST00000402119	4/12	195	179	16	109	107	2	strelka-varscan-mutect	CYP4F11,stop_gained,p.Trp144Ter,ENST00000402119,NM_021187.3;CYP4F11,stop_gained,p.Trp144Ter,ENST00000248041,NM_001128932.1;CYP4F11,stop_gained,p.Trp144Ter,ENST00000620614,;CYP4F11,stop_gained,p.Trp144Ter,ENST00000326742,;CYP4F11,5_prime_UTR_variant,,ENST00000591841,;	T	ENST00000402119	Transcript	stop_gained	859/3161	432/1575	144/524	W/*	tgG/tgA		1		-1	CYP4F11	HGNC	HGNC:13265	protein_coding	YES	CCDS12337.1	ENSP00000384588	Q9HBI6		UPI000013CC35	NM_021187.3			4/12		hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF16,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	83	15927305	15927305	C	T	1	0	0	0	0	0	1	0	0	3989	856	30	3		3	CYP4F11	19	15927305	Nonsense_Mutation	SNP	C	C3N-01823_TP	2506	15927305	42690311	429	27772											
CALR3	0	.	GRCh38	chr19	16490378	16490378	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaactcaccaaacataataTagtactgcgattttccattc	15	13	3	10	1	1	0	1	0	0	0	3	1	2	0	2	0	4	1	2	0	7	8	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.386A>G	p.Tyr129Cys	p.Y129C	ENST00000269881	3/9	379	346	33	234	233	1	strelka-varscan-mutect	CALR3,missense_variant,p.Tyr129Cys,ENST00000269881,NM_145046.4;CALR3,intron_variant,,ENST00000600762,;CTD-3222D19.2,intron_variant,,ENST00000409035,;	C	ENST00000269881	Transcript	missense_variant	449/1292	386/1155	129/384	Y/C	tAt/tGt		1		-1	CALR3	HGNC	HGNC:20407	protein_coding	YES	CCDS12344.1	ENSP00000269881	Q96L12	A0A140VJF7	UPI000013D85C	NM_145046.4	tolerated(0.07)		3/9		hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF3,Pfam_domain:PF00262,PIRSF_domain:PIRSF002356,Gene3D:2.60.120.200,Superfamily_domains:SSF49899,Prints_domain:PR00626																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	16490378	16490378	T	C	1	0	0	0	0	1	0	0	0	2284	1406	49	5		5	CALR3	19	16490378	Missense_Mutation	SNP	T	C3N-01823_TP	563073	16490378	42127238	430	27773											
PLVAP	0	.	GRCh38	chr19	17376971	17376971	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgatgcggtccaggtcgcgGcgagcattcagccacatctg	7	9	13	12	4	2	1	1	1	1	0	4	2	3	1	2	3	3	1	2	3	0	2			C3N-01823_TP	C3N-01823_NB	G	G																c.318C>A	p.=	p.R106R	ENST00000252590	1/6	270	216	54	150	150	0	strelka-varscan-mutect	PLVAP,synonymous_variant,p.=,ENST00000252590,NM_031310.2;PLVAP,synonymous_variant,p.=,ENST00000599426,;	T	ENST00000252590	Transcript	synonymous_variant	380/2305	318/1329	106/442	R	cgC/cgA	COSM5388999	1		-1	PLVAP	HGNC	HGNC:13635	protein_coding	YES	CCDS32952.1	ENSP00000252590	Q9BX97		UPI000003ED36	NM_031310.2			1/6		hmmpanther:PTHR21687:SF5,hmmpanther:PTHR21687,Pfam_domain:PF06637											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	83	17376971	17376971	G	T	1	0	0	0	0	0	0	0	1	12222	1190	42	2		2	PLVAP	19	17376971	Silent	SNP	G	C3N-01823_TP	886593	17376971	41240645	431	27774											
KLHL26	0	.	GRCh38	chr19	18668358	18668358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcggcacgccctacaccGacagcgaccgctcggtcagc	7	4	12	18	7	1	0	1	0	0	0	3	2	1	0	3	3	3	2	3	3	1	1			C3N-01823_TP	C3N-01823_NB	G	G																c.961G>T	p.Asp321Tyr	p.D321Y	ENST00000300976	3/3	251	223	28	108	107	1	strelka-varscan-mutect	KLHL26,missense_variant,p.Asp321Tyr,ENST00000300976,NM_018316.1;KLHL26,intron_variant,,ENST00000599006,;KLHL26,downstream_gene_variant,,ENST00000595423,;KLHL26,downstream_gene_variant,,ENST00000595182,;KLHL26,downstream_gene_variant,,ENST00000596843,;KLHL26,downstream_gene_variant,,ENST00000600657,;	T	ENST00000300976	Transcript	missense_variant	1051/4407	961/1848	321/615	D/Y	Gac/Tac	COSM4563166	1		1	KLHL26	HGNC	HGNC:25623	protein_coding	YES	CCDS12384.1	ENSP00000300976	Q53HC5	A0A024R7N5	UPI0000071AC2	NM_018316.1	deleterious(0.02)		3/3		hmmpanther:PTHR24412:SF56,hmmpanther:PTHR24412,PIRSF_domain:PIRSF037037,Gene3D:1k3iA02,SMART_domains:SM00612,Superfamily_domains:0052715											1						MODERATE	1	SNV	1		1	1										PASS		rs1422020469	.												T	3	4	83	18668358	18668358	G	T	1	0	0	0	0	1	0	0	0	8245	1058	37	1		1	KLHL26	19	18668358	Missense_Mutation	SNP	G	C3N-01823_TP	1291387	18668358	39949258	432	27775											
ZNF257	0	.	GRCh38	chr19	22088182	22088182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataactacccagagcaaaatGtatcaatgtgataaatatgt	18	11	6	6	0	1	2	1	1	0	1	1	2	1	2	1	0	3	2	1	0	9	5			C3N-01823_TP	C3N-01823_NB	G	G																c.432G>T	p.Met144Ile	p.M144I	ENST00000594947	4/4	61	50	11	36	36	0	strelka-varscan-mutect	ZNF257,missense_variant,p.Met144Ile,ENST00000594947,NM_033468.2;ZNF257,missense_variant,p.Met68Ile,ENST00000597927,;ZNF257,3_prime_UTR_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,NM_001316996.1;	T	ENST00000594947	Transcript	missense_variant	576/3874	432/1692	144/563	M/I	atG/atT	COSM565872	1		1	ZNF257	HGNC	HGNC:13498	protein_coding	YES	CCDS46030.1	ENSP00000470209	Q9Y2Q1		UPI0000E045CA	NM_033468.2	tolerated(1)		4/4		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF127,Gene3D:3.30.160.60,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	4		1	1										PASS		rs1400263933	.												T	3	4	83	22088182	22088182	G	T	1	0	0	0	0	1	0	0	0	18376	1377	48	2		2	ZNF257	19	22088182	Missense_Mutation	SNP	G	C3N-01823_TP	3419824	22088182	36529434	433	27776											
ZNF98	0	.	GRCh38	chr19	22392330	22392330	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggttgaggactggctaaaaGctctgccacattcttcacat	10	11	10	10	0	3	1	1	1	2	0	3	2	3	2	1	3	2	3	1	3	2	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.905C>G	p.Ala302Gly	p.A302G	ENST00000357774	4/4	95	74	21	46	46	0	strelka-varscan-mutect	ZNF98,missense_variant,p.Ala302Gly,ENST00000357774,NM_001098626.1;ZNF98,downstream_gene_variant,,ENST00000593657,;	C	ENST00000357774	Transcript	missense_variant	1027/2338	905/1719	302/572	A/G	gCt/gGt		1		-1	ZNF98	HGNC	HGNC:13174	protein_coding	YES	CCDS46031.1	ENSP00000350418	A6NK75		UPI0000251DC5	NM_001098626.1	deleterious(0.02)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		rs776973686	.												C	3	2	83	22392330	22392330	G	C	1	0	0	0	0	1	0	0	0	18796	971	34	4		4	ZNF98	19	22392330	Missense_Mutation	SNP	G	C3N-01823_TP	304148	22392330	36225286	434	27777											
ZNF728	0	.	GRCh38	chr19	22976488	22976488	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcttcacatttgtaGggtttctctccagcatgact	8	15	6	12	0	3	1	1	1	2	0	5	1	4	1	2	1	1	3	2	1	1	5	rs754232352		C3N-01823_TP	C3N-01823_NB	G	G																c.849C>G	p.=	p.P283P	ENST00000594710	4/4	365	298	67	196	196	0	strelka-varscan-mutect	ZNF728,synonymous_variant,p.=,ENST00000594710,NM_001267716.1;ZNF728,downstream_gene_variant,,ENST00000599851,;	C	ENST00000594710	Transcript	synonymous_variant	995/2015	849/1869	283/622	P	ccC/ccG	rs754232352	1		-1	ZNF728	HGNC	HGNC:32463	protein_coding	YES	CCDS59370.1	ENSP00000471593	P0DKX0		UPI0002656E4B	NM_001267716.1			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF239,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	LOW	1	SNV	3			1										PASS		rs754232352	.												C	2	2	83	22976488	22976488	G	C	1	0	0	0	0	0	0	0	1	18702	987	35	4		4	ZNF728	19	22976488	Silent	SNP	G	C3N-01823_TP	584158	22976488	35641128	435	27778											
ZNF91	0	.	GRCh38	chr19	23362326	23362327	+	Frame_Shift_Ins	INS	-	-	T																															ggttgaggaccaatgaaaggINSttttttcacattctttacat																								novel		C3N-01823_TP	C3N-01823_NB	-	-																c.652dupA	p.Thr218AsnfsTer10	p.T218Nfs*10	ENST00000300619	4/4	157	146	11	98	98	0	varindel-pindel	ZNF91,frameshift_variant,p.Thr218AsnfsTer10,ENST00000300619,NM_003430.3;ZNF91,frameshift_variant,p.Thr186AsnfsTer10,ENST00000397082,NM_001300951.1;ZNF91,frameshift_variant,p.Thr119AsnfsTer10,ENST00000595533,;ZNF91,intron_variant,,ENST00000599743,;ZNF91,intron_variant,,ENST00000596989,;ZNF91,upstream_gene_variant,,ENST00000596528,;ZNF91,upstream_gene_variant,,ENST00000599281,;ZNF91,upstream_gene_variant,,ENST00000593341,;	T	ENST00000300619	Transcript	frameshift_variant	858-859/5489	652-653/3576	218/1191	T/NX	acc/aAcc		1		-1	ZNF91	HGNC	HGNC:13166	protein_coding	YES	CCDS42541.1	ENSP00000300619	Q05481		UPI00002038F9	NM_003430.3			4/4		PROSITE_profiles:PS50157,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	83	23362326	23362326	-	T	1	0	1	1	0	0	0	0	0	18793	1261	44	0		0	ZNF91	19	23362326	Frame_Shift_Ins	INS	-	C3N-01823_TP	385838	23362326	35255290	436	27779											
NUDT19	0	.	GRCh38	chr19	32711868	32711868	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	accggatagtgacataccatCgccacctttatgatatccac	12	10	6	13	2	0	2	0	2	0	0	2	3	1	3	5	1	1	0	5	1	4	5	rs372447363		C3N-01823_TP	C3N-01823_NB	C	C																c.1039C>G	p.Arg347Gly	p.R347G	ENST00000397061	3/3	576	522	54	420	420	0	strelka-varscan-mutect	NUDT19,missense_variant,p.Arg347Gly,ENST00000397061,NM_001105570.1;	G	ENST00000397061	Transcript	missense_variant	1039/2967	1039/1128	347/375	R/G	Cgc/Ggc	rs372447363	1		1	NUDT19	HGNC	HGNC:32036	protein_coding	YES	CCDS42543.1	ENSP00000380251	A8MXV4		UPI00001D819F	NM_001105570.1	tolerated(0.32)		3/3		hmmpanther:PTHR12318:SF0,hmmpanther:PTHR12318																	MODERATE	1	SNV	2			1										PASS		rs372447363	.												G	3	3	83	32711868	32711868	C	G	1	0	0	0	0	1	0	0	0	10800	884	31	4		4	NUDT19	19	32711868	Missense_Mutation	SNP	C	C3N-01823_TP	9349542	32711868	25905748	437	27780											
GPATCH1	0	.	GRCh38	chr19	33126605	33126605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaaagaaacacaggaaGcacaaacacaaaggcaagca	24	0	8	9	0	0	2	0	0	0	2	0	3	0	3	0	2	4	3	0	2	7	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2637G>T	p.Lys879Asn	p.K879N	ENST00000170564	19/20	367	336	31	239	238	1	strelka-varscan-mutect	GPATCH1,missense_variant,p.Lys879Asn,ENST00000170564,NM_018025.2;GPATCH1,non_coding_transcript_exon_variant,,ENST00000592262,;	T	ENST00000170564	Transcript	missense_variant	2951/3492	2637/2796	879/931	K/N	aaG/aaT		1		1	GPATCH1	HGNC	HGNC:24658	protein_coding	YES	CCDS12428.1	ENSP00000170564	Q9BRR8		UPI000004EC71	NM_018025.2	deleterious_low_confidence(0.01)		19/20		Low_complexity_(Seg):seg,hmmpanther:PTHR13384:SF19,hmmpanther:PTHR13384																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	33126605	33126605	G	T	1	0	0	0	0	1	0	0	0	6489	962	34	2		2	GPATCH1	19	33126605	Missense_Mutation	SNP	G	C3N-01823_TP	414737	33126605	25491011	438	27781											
MAG	0	.	GRCh38	chr19	35295708	35295708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgccgctttgacttcccgGatgagctgcggcccgctgtg	3	10	13	15	4	0	2	0	2	0	0	1	3	1	3	4	2	3	3	4	2	0	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.142G>T	p.Asp48Tyr	p.D48Y	ENST00000392213	4/11	271	224	47	167	166	1	strelka-varscan-mutect	MAG,missense_variant,p.Asp48Tyr,ENST00000361922,NM_080600.2;MAG,missense_variant,p.Asp48Tyr,ENST00000392213,NM_002361.3;MAG,missense_variant,p.Asp23Tyr,ENST00000537831,NM_001199216.1;MAG,missense_variant,p.Asp48Tyr,ENST00000595791,;MAG,missense_variant,p.Asp23Tyr,ENST00000600291,;MAG,missense_variant,p.Asp48Tyr,ENST00000597035,;	T	ENST00000392213	Transcript	missense_variant	301/2390	142/1881	48/626	D/Y	Gat/Tat		1		1	MAG	HGNC	HGNC:6783	protein_coding	YES	CCDS12455.1	ENSP00000376048	P20916		UPI000012EB2F	NM_002361.3	deleterious(0)		4/11		Gene3D:2.60.40.10,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF54,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	35295708	35295708	G	T	1	0	0	0	0	1	0	0	0	9078	1174	41	2		2	MAG	19	35295708	Missense_Mutation	SNP	G	C3N-01823_TP	2169103	35295708	23321908	439	27782											
KRTDAP	0	.	GRCh38	chr19	35490405	35490405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagtggagcaccaggaggGagaggagcaccacggcagga	13	1	18	9	1	0	2	0	0	0	2	0	7	0	6	2	6	2	3	2	6	0	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.38C>A	p.Ser13Tyr	p.S13Y	ENST00000338897	1/6	116	103	13	80	80	0	strelka-varscan-mutect	KRTDAP,missense_variant,p.Ser13Tyr,ENST00000338897,NM_207392.2;KRTDAP,missense_variant,p.Ser13Tyr,ENST00000484218,NM_001244847.1;KRTDAP,intron_variant,,ENST00000479340,;	T	ENST00000338897	Transcript	missense_variant	127/491	38/300	13/99	S/Y	tCc/tAc		1		-1	KRTDAP	HGNC	HGNC:16313	protein_coding	YES	CCDS12462.1	ENSP00000339251	P60985		UPI0000035979	NM_207392.2	deleterious_low_confidence(0)		1/6		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR36463,hmmpanther:PTHR36463:SF1,PD940796																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	35490405	35490405	G	T	1	0	0	0	0	1	0	0	0	8479	1174	41	2		2	KRTDAP	19	35490405	Missense_Mutation	SNP	G	C3N-01823_TP	194697	35490405	23127211	440	27783											
NFKBID	0	.	GRCh38	chr19	35890007	35890007	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgatggcctcctgggccggCccagggggcagggcagccgc	5	3	18	15	3	0	0	0	0	0	0	1	1	1	0	5	6	1	2	5	6	0	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.771G>T	p.=	p.G257G	ENST00000396901	11/12	168	133	35	110	110	0	strelka-varscan-mutect	NFKBID,synonymous_variant,p.=,ENST00000396901,NM_139239.1;NFKBID,synonymous_variant,p.=,ENST00000606253,;NFKBID,3_prime_UTR_variant,,ENST00000590828,;NFKBID,downstream_gene_variant,,ENST00000586361,;	A	ENST00000396901	Transcript	synonymous_variant	1345/1834	771/942	257/313	G	ggG/ggT		1		-1	NFKBID	HGNC	HGNC:15671	protein_coding	YES	CCDS42552.1	ENSP00000380109	Q8NI38		UPI000006EE99	NM_139239.1			11/12		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24124,hmmpanther:PTHR24124:SF7,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	83	35890007	35890007	C	A	1	0	0	0	0	0	0	0	1	10416	726	26	2		2	NFKBID	19	35890007	Silent	SNP	C	C3N-01823_TP	399602	35890007	22727609	441	27784											
ZNF420	0	.	GRCh38	chr19	37129047	37129047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttagtcatggctcacaaGtttacatgtgaattgtctga	11	15	8	7	0	3	2	2	2	1	0	3	2	3	2	0	1	1	2	0	1	4	5	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2056G>A	p.Val686Ile	p.V686I	ENST00000337995	5/5	108	100	8	49	49	0	strelka-varscan-mutect	ZNF420,missense_variant,p.Val686Ile,ENST00000337995,NM_144689.3;ZNF420,intron_variant,,ENST00000304239,;ZNF420,intron_variant,,ENST00000585862,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF420,downstream_gene_variant,,ENST00000589245,;ZNF420,downstream_gene_variant,,ENST00000587029,;ZNF420,downstream_gene_variant,,ENST00000590332,;CTC-454I21.4,intron_variant,,ENST00000587645,;ZNF585A,intron_variant,,ENST00000588723,;ZNF420,intron_variant,,ENST00000586540,;ZNF585A,intron_variant,,ENST00000587817,;ZNF420,downstream_gene_variant,,ENST00000589461,;	A	ENST00000337995	Transcript	missense_variant	2271/3535	2056/2067	686/688	V/I	Gtt/Att		1		1	ZNF420	HGNC	HGNC:20649	protein_coding	YES	CCDS12498.1	ENSP00000338770	Q8TAQ5		UPI000007049F	NM_144689.3	deleterious(0.02)		5/5																			MODERATE	1	SNV	1			1										PASS		rs1444427924	.												A	3	1	83	37129047	37129047	G	A	1	0	0	0	0	1	0	0	0	18469	1029	36	3		3	ZNF420	19	37129047	Missense_Mutation	SNP	G	C3N-01823_TP	1239040	37129047	21488569	442	27785											
ZNF383	0	.	GRCh38	chr19	37243093	37243093	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaccttatgaatgtaaagTatgtgggaaagcctttacta	16	12	8	5	0	0	1	0	1	0	0	0	2	0	2	2	1	3	2	2	1	10	6	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.857T>A	p.Val286Glu	p.V286E	ENST00000352998	5/5	209	193	16	113	113	0	strelka-varscan-mutect	ZNF383,missense_variant,p.Val286Glu,ENST00000352998,NM_152604.1;ZNF383,missense_variant,p.Val286Glu,ENST00000589413,;ZNF383,missense_variant,p.Val286Glu,ENST00000590503,;ZNF383,downstream_gene_variant,,ENST00000588371,;ZNF383,non_coding_transcript_exon_variant,,ENST00000586068,;ZNF383,downstream_gene_variant,,ENST00000588250,;	A	ENST00000352998	Transcript	missense_variant	1115/6760	857/1428	286/475	V/E	gTa/gAa		1		1	ZNF383	HGNC	HGNC:18609	protein_coding	YES	CCDS12501.1	ENSP00000340132	Q8NA42		UPI00000717CC	NM_152604.1	tolerated(1)		5/5		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	37243093	37243093	T	A	1	0	0	0	0	1	0	0	0	18446	1638	57	4		4	ZNF383	19	37243093	Missense_Mutation	SNP	T	C3N-01823_TP	114046	37243093	21374523	443	27786											
WDR87	0	.	GRCh38	chr19	37886032	37886032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagctgggatttgggagaGaggtaactgtacctcagtct	9	12	13	7	0	2	1	1	0	1	1	2	4	2	3	1	3	3	3	1	3	3	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.7639C>A	p.Leu2547Ile	p.L2547I	ENST00000447313	6/6	227	181	46	153	153	0	strelka-varscan-mutect	WDR87,missense_variant,p.Leu2547Ile,ENST00000447313,NM_001291088.1;WDR87,missense_variant,p.Leu2508Ile,ENST00000303868,NM_031951.4;	T	ENST00000447313	Transcript	missense_variant	7800/9009	7639/8739	2547/2912	L/I	Ctc/Atc		1		-1	WDR87	HGNC	HGNC:29934	protein_coding	YES	CCDS74356.1	ENSP00000405012		E7ESW6	UPI0003EAEFEF	NM_001291088.1	deleterious(0.04)		6/6																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	83	37886032	37886032	G	T	1	0	0	0	0	1	0	0	0	17890	942	33	2		2	WDR87	19	37886032	Missense_Mutation	SNP	G	C3N-01823_TP	642939	37886032	20731584	444	27787											
WDR87	0	.	GRCh38	chr19	37886377	37886377	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagagctgttgacatcaGtttcttcaaagggcttttta	9	15	8	9	0	3	2	2	1	1	1	4	2	4	2	1	1	1	4	1	1	2	6	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.7294C>G	p.Leu2432Val	p.L2432V	ENST00000447313	6/6	126	117	9	87	87	0	strelka-mutect	WDR87,missense_variant,p.Leu2432Val,ENST00000447313,NM_001291088.1;WDR87,missense_variant,p.Leu2393Val,ENST00000303868,NM_031951.4;	C	ENST00000447313	Transcript	missense_variant	7455/9009	7294/8739	2432/2912	L/V	Ctg/Gtg		1		-1	WDR87	HGNC	HGNC:29934	protein_coding	YES	CCDS74356.1	ENSP00000405012		E7ESW6	UPI0003EAEFEF	NM_001291088.1	tolerated_low_confidence(0.48)		6/6																			MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	83	37886377	37886377	G	C	1	0	0	0	0	1	0	0	0	17890	1020	36	4		4	WDR87	19	37886377	Missense_Mutation	SNP	G	C3N-01823_TP	345	37886377	20731239	445	27788											
RYR1	0	.	GRCh38	chr19	38492546	38492546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaccaccctgggcagcCgcctcatgagcctgttggag	9	6	13	13	1	1	2	1	1	0	1	1	4	1	3	5	2	2	2	5	2	1	1	rs758631725		C3N-01823_TP	C3N-01823_NB	C	C																c.6184C>A	p.Arg2062Ser	p.R2062S	ENST00000359596	38/106	568	517	51	392	392	0	strelka-varscan-mutect	RYR1,missense_variant,p.Arg2062Ser,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Arg2062Ser,ENST00000359596,NM_000540.2;RYR1,upstream_gene_variant,,ENST00000594335,;	A	ENST00000359596	Transcript	missense_variant	6184/15117	6184/15117	2062/5038	R/S	Cgc/Agc	rs758631725,COSM4077779	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2	deleterious(0.03)		38/106		hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs758631725	.												A	3	1	83	38492546	38492546	C	A	1	0	0	0	0	1	0	0	0	14028	652	23	1		1	RYR1	19	38492546	Missense_Mutation	SNP	C	C3N-01823_TP	606169	38492546	20125070	446	27789											
IFNL1	0	.	GRCh38	chr19	39296853	39296853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgcagctctcctgtcttcCccgggaattgggacctgagg	5	11	13	12	1	2	1	0	1	2	0	4	3	3	3	4	3	2	3	4	3	1	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.220C>A	p.Pro74Thr	p.P74T	ENST00000333625	2/5	196	176	20	112	112	0	strelka-varscan-mutect	IFNL1,missense_variant,p.Pro74Thr,ENST00000333625,NM_172140.1;	A	ENST00000333625	Transcript	missense_variant	317/857	220/603	74/200	P/T	Ccc/Acc		1		1	IFNL1	HGNC	HGNC:18363	protein_coding	YES	CCDS12531.1	ENSP00000329991	Q8IU54		UPI00000474AE	NM_172140.1	deleterious(0.01)		2/5		PD856660,Pfam_domain:PF15177,hmmpanther:PTHR31943,hmmpanther:PTHR31943:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	39296853	39296853	C	A	1	0	0	0	0	1	0	0	0	7452	623	22	2		2	IFNL1	19	39296853	Missense_Mutation	SNP	C	C3N-01823_TP	804307	39296853	19320763	447	27790											
PRR19	0	.	GRCh38	chr19	42310314	42310314	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agaaagatgacacccttctgGattaatagccctgatcaagt	14	10	8	9	0	2	4	1	2	1	2	2	5	2	5	2	1	1	0	2	1	4	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.645G>C	p.Trp215Cys	p.W215C	ENST00000499536	2/2	498	454	44	292	292	0	strelka-varscan-mutect	PRR19,missense_variant,p.Trp215Cys,ENST00000499536,;PRR19,missense_variant,p.Trp215Cys,ENST00000341747,NM_199285.2;PRR19,3_prime_UTR_variant,,ENST00000598490,;TMEM145,upstream_gene_variant,,ENST00000598766,;TMEM145,upstream_gene_variant,,ENST00000301204,NM_173633.2;PRR19,downstream_gene_variant,,ENST00000595750,;TMEM145,upstream_gene_variant,,ENST00000601020,;TMEM145,upstream_gene_variant,,ENST00000595775,;	C	ENST00000499536	Transcript	missense_variant	1456/1956	645/1071	215/356	W/C	tgG/tgC		1		1	PRR19	HGNC	HGNC:33728	protein_coding	YES	CCDS33036.1	ENSP00000445247	A6NJB7		UPI000016101F		tolerated(0.1)		2/2		hmmpanther:PTHR37346,Pfam_domain:PF15455																	MODERATE	1	SNV	2			1										PASS		rs1216344387	.												C	3	2	83	42310314	42310314	G	C	1	0	0	0	0	1	0	0	0	12727	1183	41	4		4	PRR19	19	42310314	Missense_Mutation	SNP	G	C3N-01823_TP	3013461	42310314	16307302	448	27791											
ZNF226	0	.	GRCh38	chr19	44176422	44176422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatcagagactccacactgGggagaagccattcaaatgtg	13	7	10	11	0	2	2	2	0	0	2	3	4	3	2	3	2	1	0	3	2	2	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1160G>T	p.Gly387Val	p.G387V	ENST00000590089	7/7	235	164	71	149	149	0	strelka-varscan-mutect	ZNF226,missense_variant,p.Gly387Val,ENST00000590089,NM_016444.2;ZNF226,missense_variant,p.Gly387Val,ENST00000454662,NM_001319090.1,NM_001319089.1,NM_001319088.1,NM_001032372.1;ZNF226,missense_variant,p.Gly387Val,ENST00000337433,NM_001032373.1;ZNF226,3_prime_UTR_variant,,ENST00000588883,;ZNF226,downstream_gene_variant,,ENST00000300823,NM_015919.3;ZNF226,downstream_gene_variant,,ENST00000413984,NM_001032374.1;ZNF226,downstream_gene_variant,,ENST00000589160,;ZNF226,downstream_gene_variant,,ENST00000588795,;ZNF226,downstream_gene_variant,,ENST00000590524,;ZNF226,downstream_gene_variant,,ENST00000585678,;ZNF226,downstream_gene_variant,,ENST00000586914,;ZNF226,downstream_gene_variant,,ENST00000588127,;ZNF226,downstream_gene_variant,,ENST00000586203,;ZNF226,downstream_gene_variant,,ENST00000590578,;ZNF226,downstream_gene_variant,,ENST00000590467,;ZNF226,downstream_gene_variant,,ENST00000586286,;ZNF226,downstream_gene_variant,,ENST00000585560,;ZNF226,downstream_gene_variant,,ENST00000588742,NM_001146220.2;ZNF226,downstream_gene_variant,,ENST00000590759,;	T	ENST00000590089	Transcript	missense_variant	1527/2788	1160/2412	387/803	G/V	gGg/gTg		1		1	ZNF226	HGNC	HGNC:13019	protein_coding	YES	CCDS46102.1	ENSP00000465121	Q9NYT6	A0A024R0P4	UPI000013C32A	NM_016444.2	deleterious(0.01)		7/7		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF177,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	44176422	44176422	G	T	1	0	0	0	0	1	0	0	0	18357	1232	43	2		2	ZNF226	19	44176422	Missense_Mutation	SNP	G	C3N-01823_TP	1866108	44176422	14441194	449	27792											
NANOS2	0	.	GRCh38	chr19	45914597	45914597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttggctcctcaatctcttGggtctccagcctttgacccc	5	13	7	16	0	3	1	1	1	2	0	6	1	4	1	5	2	1	1	5	2	1	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.97C>A	p.Gln33Lys	p.Q33K	ENST00000341294	1/1	326	239	87	207	207	0	strelka-varscan-mutect	NANOS2,missense_variant,p.Gln33Lys,ENST00000341294,NM_001029861.2;	T	ENST00000341294	Transcript	missense_variant	274/1657	97/417	33/138	Q/K	Caa/Aaa		1		-1	NANOS2	HGNC	HGNC:23292	protein_coding	YES	CCDS33056.1	ENSP00000341021	P60321		UPI00001984F7	NM_001029861.2	tolerated(0.46)		1/1		hmmpanther:PTHR12887,hmmpanther:PTHR12887:SF7																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	83	45914597	45914597	G	T	1	0	0	0	0	1	0	0	0	10161	1357	47	2		2	NANOS2	19	45914597	Missense_Mutation	SNP	G	C3N-01823_TP	1738175	45914597	12703019	450	27793											
CRX	0	.	GRCh38	chr19	47836276	47836276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagcggcgggagcgcaccaCcttcacccggagccaactgg	8	3	14	16	4	1	0	1	0	0	0	1	2	1	2	4	4	4	2	4	4	1	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.134C>T	p.Thr45Ile	p.T45I	ENST00000221996	3/4	480	433	47	330	330	0	strelka-varscan-mutect	CRX,missense_variant,p.Thr45Ile,ENST00000221996,NM_000554.4;CRX,missense_variant,p.Thr45Ile,ENST00000539067,;CRX,missense_variant,p.Thr45Ile,ENST00000566686,;CRX,intron_variant,,ENST00000613299,;CRX,non_coding_transcript_exon_variant,,ENST00000556527,;CRX,upstream_gene_variant,,ENST00000602001,;	T	ENST00000221996	Transcript	missense_variant	341/4470	134/900	45/299	T/I	aCc/aTc		1		1	CRX	HGNC	HGNC:2383	protein_coding	YES	CCDS12706.1	ENSP00000221996	O43186		UPI00001284E0	NM_000554.4	deleterious(0.01)		3/4		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF331,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	83	47836276	47836276	C	T	1	0	0	0	0	1	0	0	0	3704	507	18	3		3	CRX	19	47836276	Missense_Mutation	SNP	C	C3N-01823_TP	1921679	47836276	10781340	451	27794											
SIGLEC11	0	.	GRCh38	chr19	49958842	49958842	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgggtgacacagaccagGcgcaggctttggccctccag	7	7	14	13	1	0	2	0	1	0	1	1	2	1	2	3	4	0	2	3	4	0	1	rs150050230		C3N-01823_TP	C3N-01823_NB	G	G																c.1164C>T	p.=	p.R388R	ENST00000447370	7/11	86	76	10	53	53	0	strelka-varscan-mutect	SIGLEC11,synonymous_variant,p.=,ENST00000447370,NM_052884.2;SIGLEC11,synonymous_variant,p.=,ENST00000426971,NM_001135163.1;SIGLEC11,upstream_gene_variant,,ENST00000426296,;CTC-326K19.6,upstream_gene_variant,,ENST00000451973,;	A	ENST00000447370	Transcript	synonymous_variant	1255/3173	1164/2097	388/698	R	cgC/cgT	rs150050230,COSM713349	1		-1	SIGLEC11	HGNC	HGNC:15622	protein_coding	YES	CCDS12790.2	ENSP00000412361	Q96RL6		UPI00018131F5	NM_052884.2			7/11		PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF44,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726											0,1						LOW	1	SNV	1		0,1	1										PASS		rs150050230	.												A	2	1	83	49958842	49958842	G	A	1	0	0	0	0	0	0	0	1	14571	1190	42	3		3	SIGLEC11	19	49958842	Silent	SNP	G	C3N-01823_TP	2122566	49958842	8658774	452	27795											
NAPSA	0	.	GRCh38	chr19	50361135	50361135	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgatgcacccttgattccAccaatctaggggtagattga	11	11	9	10	0	1	4	0	3	1	1	2	4	2	4	3	2	1	2	3	2	3	5	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.474T>G	p.=	p.G158G	ENST00000253719	5/9	174	165	9	127	126	1	varscan-mutect	NAPSA,synonymous_variant,p.=,ENST00000253719,NM_004851.1;NAPSA,synonymous_variant,p.=,ENST00000598915,;NR1H2,intron_variant,,ENST00000600355,;CTB-191K22.6,downstream_gene_variant,,ENST00000597049,;NR1H2,intron_variant,,ENST00000600978,;NAPSA,3_prime_UTR_variant,,ENST00000599233,;NAPSA,non_coding_transcript_exon_variant,,ENST00000599181,;NAPSA,non_coding_transcript_exon_variant,,ENST00000596653,;NR1H2,intron_variant,,ENST00000593532,;NAPSA,downstream_gene_variant,,ENST00000597378,;NAPSA,upstream_gene_variant,,ENST00000598044,;	C	ENST00000253719	Transcript	synonymous_variant	683/1548	474/1263	158/420	G	ggT/ggG		1		-1	NAPSA	HGNC	HGNC:13395	protein_coding	YES	CCDS12794.1	ENSP00000253719	O96009		UPI0000046F0E	NM_004851.1			5/9		PROSITE_profiles:PS51767,hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF237,Gene3D:2.40.70.10,Pfam_domain:PF00026,Superfamily_domains:SSF50630																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	83	50361135	50361135	A	C	1	0	0	0	0	0	0	0	1	10176	173	6	5		5	NAPSA	19	50361135	Silent	SNP	A	C3N-01823_TP	402293	50361135	8256481	453	27796											
SHANK1	0	.	GRCh38	chr19	50668297	50668297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtccagcgtggccgggccGctgggcgaggcgggggtggg	4	4	23	10	5	0	0	0	0	0	0	1	1	1	0	3	7	1	1	3	7	1	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.3663C>A	p.Ser1221Arg	p.S1221R	ENST00000293441	22/23	48	38	10	21	21	0	strelka-varscan-mutect	SHANK1,missense_variant,p.Ser1221Arg,ENST00000293441,NM_016148.2;SHANK1,missense_variant,p.Ser1229Arg,ENST00000391814,;SHANK1,missense_variant,p.Ser1212Arg,ENST00000359082,;SHANK1,missense_variant,p.Ser608Arg,ENST00000391813,;SHANK1,upstream_gene_variant,,ENST00000468654,;	T	ENST00000293441	Transcript	missense_variant	3682/6643	3663/6486	1221/2161	S/R	agC/agA		1		-1	SHANK1	HGNC	HGNC:15474	protein_coding	YES	CCDS12799.1	ENSP00000293441	Q9Y566		UPI000013E109	NM_016148.2	tolerated(0.62)		22/23		Low_complexity_(Seg):seg,hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	50668297	50668297	G	T	1	0	0	0	0	1	0	0	0	14523	1078	38	1		1	SHANK1	19	50668297	Missense_Mutation	SNP	G	C3N-01823_TP	307162	50668297	7949319	454	27797											
SHANK1	0	.	GRCh38	chr19	50702630	50702630	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagccccccgtgcccccGgctggcccttcccggggtgt	1	7	13	20	3	0	1	0	1	0	0	1	1	1	1	8	4	2	1	8	4	0	1	rs750041152		C3N-01823_TP	C3N-01823_NB	G	G																c.1584C>A	p.=	p.A528A	ENST00000293441	11/23	115	107	8	95	94	1	strelka-varscan	SHANK1,synonymous_variant,p.=,ENST00000293441,NM_016148.2;SHANK1,synonymous_variant,p.=,ENST00000391814,;SHANK1,synonymous_variant,p.=,ENST00000359082,;SHANK1,downstream_gene_variant,,ENST00000461154,;	T	ENST00000293441	Transcript	synonymous_variant	1603/6643	1584/6486	528/2161	A	gcC/gcA	rs750041152,COSM4962202,COSM5660521	1		-1	SHANK1	HGNC	HGNC:15474	protein_coding	YES	CCDS12799.1	ENSP00000293441	Q9Y566		UPI000013E109	NM_016148.2			11/23		Low_complexity_(Seg):seg,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF3											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		.	.												T	2	4	83	50702630	50702630	G	T	1	0	0	0	0	0	0	0	1	14523	1103	39	1		1	SHANK1	19	50702630	Silent	SNP	G	C3N-01823_TP	34333	50702630	7914986	455	27798											
AC018755.18	0	.	GRCh38	chr19	51627709	51627709	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtgcagaccctcagcCtcccaggagcaggaggggcc	8	4	14	15	0	1	1	1	0	0	1	2	3	2	3	4	4	4	3	4	4	0	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1035G>C	p.Glu345Asp	p.E345D	ENST00000534261	7/10	81	68	13	49	49	0	strelka-varscan-mutect	SIGLEC5,missense_variant,p.Glu345Asp,ENST00000534261,NM_003830.3;AC018755.18,missense_variant,p.Glu345Asp,ENST00000429354,;AC018755.18,missense_variant,p.Glu345Asp,ENST00000599649,;	G	ENST00000534261	Transcript	missense_variant	1435/2360	1035/1656	345/551	E/D	gaG/gaC		1		-1	SIGLEC5	HGNC	HGNC:10874	protein_coding	YES	CCDS33088.1	ENSP00000473238	O15389		UPI000011B40C	NM_003830.3	deleterious(0.02)		7/10		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF67,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	83	51627709	51627709	C	G	1	0	0	0	0	1	0	0	0	125	680	24	4		4	AC018755.18	19	51627709	Missense_Mutation	SNP	C	C3N-01823_TP	925079	51627709	6989907	456	27799											
FPR2	0	.	GRCh38	chr19	51769212	51769212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caactttgcatcctggggtgGcacccctgaggagaggctga	8	8	14	11	0	0	3	0	2	0	1	1	4	1	3	3	5	2	3	3	5	1	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.554G>A	p.Gly185Asp	p.G185D	ENST00000598776	2/2	315	296	19	198	196	2	strelka-varscan-mutect	FPR2,missense_variant,p.Gly185Asp,ENST00000598776,NM_001462.3;FPR2,missense_variant,p.Gly185Asp,ENST00000340023,NM_001005738.1;FPR2,missense_variant,p.Gly185Asp,ENST00000598953,;FPR1,intron_variant,,ENST00000594900,;FPR2,downstream_gene_variant,,ENST00000600258,;FPR2,downstream_gene_variant,,ENST00000599326,;FPR2,downstream_gene_variant,,ENST00000600722,;	A	ENST00000598776	Transcript	missense_variant	1326/2621	554/1056	185/351	G/D	gGc/gAc		1		1	FPR2	HGNC	HGNC:3827	protein_coding	YES	CCDS12840.1	ENSP00000468897	P25090	A0A024R4P3	UPI00000012D0	NM_001462.3	tolerated(1)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00526,PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF16,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	51769212	51769212	G	A	1	0	0	0	0	1	0	0	0	5905	1203	42	3		3	FPR2	19	51769212	Missense_Mutation	SNP	G	C3N-01823_TP	141503	51769212	6848404	457	27800											
ZNF432	0	.	GRCh38	chr19	52034785	52034785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgagattacgcttgcctggGaagccttttccacattcatt	9	14	8	10	1	1	1	1	1	0	1	2	3	2	2	3	1	3	1	3	1	2	6	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.894C>T	p.=	p.F298F	ENST00000594154	5/5	117	110	7	69	69	0	strelka-mutect	ZNF432,synonymous_variant,p.=,ENST00000594154,NM_001322284.1,NM_001322285.1;ZNF432,synonymous_variant,p.=,ENST00000221315,NM_014650.2;ZNF432,downstream_gene_variant,,ENST00000600368,;ZNF614,upstream_gene_variant,,ENST00000597952,;ZNF432,downstream_gene_variant,,ENST00000598745,;	A	ENST00000594154	Transcript	synonymous_variant	1107/4513	894/1959	298/652	F	ttC/ttT		1		-1	ZNF432	HGNC	HGNC:20810	protein_coding	YES	CCDS12848.1	ENSP00000470488	O94892	A0A024R4I3	UPI0000139CDC	NM_001322284.1,NM_001322285.1			5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF165,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	83	52034785	52034785	G	A	1	0	0	0	0	0	0	0	1	18478	1165	41	3		3	ZNF432	19	52034785	Silent	SNP	G	C3N-01823_TP	265573	52034785	6582831	458	27801											
ZNF578	0	.	GRCh38	chr19	52511388	52511388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacatgccatcataggtGtcacactggtgagaaacctt	11	11	8	11	0	2	1	2	1	0	1	2	2	2	1	3	2	3	0	3	2	3	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1007G>T	p.Cys336Phe	p.C336F	ENST00000421239	6/6	427	381	46	290	290	0	strelka-varscan-mutect	ZNF578,missense_variant,p.Cys336Phe,ENST00000421239,NM_001099694.1;ZNF578,downstream_gene_variant,,ENST00000601120,;CTD-3099C6.5,non_coding_transcript_exon_variant,,ENST00000599143,;	T	ENST00000421239	Transcript	missense_variant	1251/2017	1007/1773	336/590	C/F	tGt/tTt		1		1	ZNF578	HGNC	HGNC:26449	protein_coding	YES	CCDS54310.1	ENSP00000459216	Q96N58		UPI000048A457	NM_001099694.1	deleterious(0.01)		6/6		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	83	52511388	52511388	G	T	1	0	0	0	0	1	0	0	0	18584	1377	48	2		2	ZNF578	19	52511388	Missense_Mutation	SNP	G	C3N-01823_TP	476603	52511388	6106228	459	27802											
ZNF808	0	.	GRCh38	chr19	52554898	52554898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgtgggaagaccttcaGttacaagtcatcacttgtat	11	13	10	7	0	3	2	3	1	0	1	3	3	3	3	1	1	1	2	1	1	4	4	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1982G>T	p.Ser661Ile	p.S661I	ENST00000359798	5/5	253	224	29	169	169	0	strelka-varscan-mutect	ZNF808,missense_variant,p.Ser661Ile,ENST00000359798,NM_001321424.1,NM_001039886.3;ZNF808,upstream_gene_variant,,ENST00000611267,;ZNF808,downstream_gene_variant,,ENST00000465448,;ZNF808,downstream_gene_variant,,ENST00000461321,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF808,downstream_gene_variant,,ENST00000486474,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,missense_variant,p.Ser592Ile,ENST00000487863,;	T	ENST00000359798	Transcript	missense_variant	2162/3600	1982/2712	661/903	S/I	aGt/aTt		1		1	ZNF808	HGNC	HGNC:33230	protein_coding	YES	CCDS46167.1	ENSP00000352846	Q8N4W9		UPI000041AA80	NM_001321424.1,NM_001039886.3	tolerated(0.09)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF276,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	83	52554898	52554898	G	T	1	0	0	0	0	1	0	0	0	18758	1029	36	2		2	ZNF808	19	52554898	Missense_Mutation	SNP	G	C3N-01823_TP	43510	52554898	6062718	460	27803											
ERVV-1	0	.	GRCh38	chr19	53015213	53015213	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaaactcaaggcctccataGattctctagcaaatgtagtc	13	11	6	11	0	2	1	1	0	1	1	5	1	3	1	2	1	2	2	2	1	7	5	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1123G>C	p.Asp375His	p.D375H	ENST00000602168	1/1	172	154	18	100	100	0	varscan-mutect	ERVV-1,missense_variant,p.Asp375His,ENST00000602168,NM_152473.2;CTD-2620I22.3,downstream_gene_variant,,ENST00000596769,;ZNF702P,intron_variant,,ENST00000600425,;ZNF702P,intron_variant,,ENST00000594516,;	C	ENST00000602168	Transcript	missense_variant	1293/2202	1123/1434	375/477	D/H	Gat/Cat		1		1	ERVV-1	HGNC	HGNC:26501	protein_coding	YES	CCDS59419.1	ENSP00000473153	B6SEH8	M9QQA5	UPI00018258B8	NM_152473.2	deleterious(0.01)		1/1		hmmpanther:PTHR10424:SF8,hmmpanther:PTHR10424,Pfam_domain:PF00429,Gene3D:1.10.287.210,Superfamily_domains:SSF58069																	MODERATE		SNV				1										PASS		.	.												C	3	2	83	53015213	53015213	G	C	1	0	0	0	0	1	0	0	0	5106	942	33	4		4	ERVV-1	19	53015213	Missense_Mutation	SNP	G	C3N-01823_TP	460315	53015213	5602403	461	27804											
LILRB3	0	.	GRCh38	chr19	54221991	54221991	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctgctgtgagtccagggtCcgggggagctggtgttctcc	4	10	17	10	1	1	1	0	1	1	0	4	2	3	2	3	4	3	4	3	4	0	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.495G>T	p.=	p.R165R	ENST00000245620	4/13	513	487	26	379	379	0	varscan-mutect	LILRB3,synonymous_variant,p.=,ENST00000391750,NM_006864.3;LILRB3,synonymous_variant,p.=,ENST00000346401,;LILRB3,synonymous_variant,p.=,ENST00000245620,NM_001081450.2;LILRB3,downstream_gene_variant,,ENST00000445347,;CTB-83J4.1,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,synonymous_variant,p.=,ENST00000414379,;LILRB3,non_coding_transcript_exon_variant,,ENST00000468668,;RPS9,intron_variant,,ENST00000448962,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,upstream_gene_variant,,ENST00000436504,;	A	ENST00000245620	Transcript	synonymous_variant	497/2066	495/1899	165/632	R	cgG/cgT		1		-1	LILRB3	HGNC	HGNC:6607	protein_coding	YES	CCDS46175.1	ENSP00000245620	O75022		UPI00034F2393	NM_001081450.2			4/13		hmmpanther:PTHR11738:SF116,hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	83	54221991	54221991	C	A	1	0	0	0	0	0	0	0	1	8700	842	30	2		2	LILRB3	19	54221991	Silent	SNP	C	C3N-01823_TP	1206778	54221991	4395625	462	27805											
LILRB5	0	.	GRCh38	chr19	54252497	54252497	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaattacctcttctgcagGccctggtccttgggctctgg	5	12	11	13	0	3	1	0	0	3	1	4	1	4	1	3	4	2	2	3	4	2	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1527C>A	p.=	p.G509G	ENST00000449561	10/13	181	166	15	119	119	0	strelka-varscan-mutect	LILRB5,synonymous_variant,p.=,ENST00000316219,NM_006840.4;LILRB5,synonymous_variant,p.=,ENST00000449561,NM_001081442.2,NM_001304457.1;LILRB5,synonymous_variant,p.=,ENST00000345866,NM_001081443.2;LILRB5,non_coding_transcript_exon_variant,,ENST00000621581,;LILRB5,non_coding_transcript_exon_variant,,ENST00000615654,;RPS9,downstream_gene_variant,,ENST00000448962,;	T	ENST00000449561	Transcript	synonymous_variant	1598/2137	1527/1776	509/591	G	ggC/ggA		1		-1	LILRB5	HGNC	HGNC:6609	protein_coding	YES	CCDS46176.1	ENSP00000406478	O75023		UPI00034F239B	NM_001081442.2,NM_001304457.1			10/13		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF108																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	54252497	54252497	G	T	1	0	0	0	0	0	0	0	1	8702	1190	42	2		2	LILRB5	19	54252497	Silent	SNP	G	C3N-01823_TP	30506	54252497	4365119	463	27806											
LAIR1	0	.	GRCh38	chr19	54361047	54361047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctctgactcagatggaCtagcttgagacacatcttca	10	11	9	11	0	4	3	2	2	2	2	4	5	4	4	1	2	1	1	1	2	1	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.233G>T	p.Ser78Ile	p.S78I	ENST00000391742	3/10	360	326	34	258	257	1	strelka-varscan-mutect	LAIR1,missense_variant,p.Ser78Ile,ENST00000391742,NM_002287.5;LAIR1,missense_variant,p.Ser60Ile,ENST00000391743,NM_001289026.2,NM_001289027.2;LAIR1,missense_variant,p.Ser77Ile,ENST00000434277,NM_001289025.2;LAIR1,missense_variant,p.Ser78Ile,ENST00000348231,NM_021706.4;LAIR1,missense_variant,p.Ser77Ile,ENST00000474878,NM_001289023.2;LAIR1,missense_variant,p.Ser72Ile,ENST00000438193,;LAIR1,upstream_gene_variant,,ENST00000622064,;LAIR1,non_coding_transcript_exon_variant,,ENST00000440716,;LAIR1,non_coding_transcript_exon_variant,,ENST00000423853,;LAIR1,non_coding_transcript_exon_variant,,ENST00000427131,;LAIR1,non_coding_transcript_exon_variant,,ENST00000463489,;LAIR1,non_coding_transcript_exon_variant,,ENST00000480122,;LAIR1,non_coding_transcript_exon_variant,,ENST00000484116,;LAIR1,non_coding_transcript_exon_variant,,ENST00000468656,;LAIR1,missense_variant,p.Ser78Ile,ENST00000418556,;LAIR1,missense_variant,p.Ser78Ile,ENST00000391741,;LAIR1,3_prime_UTR_variant,,ENST00000436513,;LAIR1,3_prime_UTR_variant,,ENST00000420483,;LAIR1,non_coding_transcript_exon_variant,,ENST00000467269,;LAIR1,non_coding_transcript_exon_variant,,ENST00000498511,;LAIR1,upstream_gene_variant,,ENST00000475389,;LAIR1,upstream_gene_variant,,ENST00000460312,;	A	ENST00000391742	Transcript	missense_variant	386/4901	233/864	78/287	S/I	aGt/aTt		1		-1	LAIR1	HGNC	HGNC:6477	protein_coding	YES	CCDS12891.1	ENSP00000375622	Q6GTX8		UPI00034F23B9	NM_002287.5	tolerated(0.17)		3/10		Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF122,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	54361047	54361047	C	A	1	0	0	0	0	1	0	0	0	8506	565	20	2		2	LAIR1	19	54361047	Missense_Mutation	SNP	C	C3N-01823_TP	108550	54361047	4256569	464	27807											
LILRA1	0	.	GRCh38	chr19	54595235	54595235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggagaagatgaacaccCacaatgcctgaactcacagc	16	4	10	11	0	1	4	1	2	0	2	1	6	1	5	2	2	4	0	2	2	5	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.494C>T	p.Pro165Leu	p.P165L	ENST00000251372	5/10	369	329	40	291	290	1	strelka-varscan-mutect	LILRA1,missense_variant,p.Pro165Leu,ENST00000453777,NM_001278318.1;LILRA1,missense_variant,p.Pro165Leu,ENST00000251372,NM_006863.3;LILRA1,missense_variant,p.Pro165Leu,ENST00000618665,;LILRA2,downstream_gene_variant,,ENST00000251376,NM_006866.3;CTB-83J4.2,downstream_gene_variant,,ENST00000596330,;LILRA1,non_coding_transcript_exon_variant,,ENST00000473156,;LILRA1,non_coding_transcript_exon_variant,,ENST00000495417,;LILRA1,non_coding_transcript_exon_variant,,ENST00000477255,;	T	ENST00000251372	Transcript	missense_variant	676/1910	494/1470	165/489	P/L	cCa/cTa		1		1	LILRA1	HGNC	HGNC:6602	protein_coding	YES	CCDS12901.1	ENSP00000251372	O75019		UPI0000034C00	NM_006863.3	tolerated(0.23)		5/10		Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF117,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	54595235	54595235	C	T	1	0	0	0	0	1	0	0	0	8693	594	21	3		3	LILRA1	19	54595235	Missense_Mutation	SNP	C	C3N-01823_TP	234188	54595235	4022381	465	27808											
KIR3DL2	0	.	GRCh38	chr19	54850487	54850487	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaccatgtcgctcacGgtcgtcagcatggcgtgcgt	6	8	14	13	5	2	0	2	0	0	0	4	0	2	0	1	3	3	4	1	3	0	0	rs652188,rs652188		C3N-01823_TP	C3N-01823_NB	G	G																c.12G>T	p.=	p.T4T	ENST00000326321	1/9	439	387	52	348	348	0	strelka-varscan-mutect	KIR3DL2,synonymous_variant,p.=,ENST00000326321,NM_006737.3;KIR3DL2,synonymous_variant,p.=,ENST00000270442,NM_001242867.1;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DS4,downstream_gene_variant,,ENST00000339924,;KIR2DS4,downstream_gene_variant,,ENST00000391729,;	T	ENST00000326321	Transcript	synonymous_variant	45/1877	12/1368	4/455	T	acG/acT	rs652188,rs652188	1		1	KIR3DL2	HGNC	HGNC:6339	protein_coding	YES	CCDS12906.1	ENSP00000325525	P43630	A0A0U1WNF3	UPI000012DB25	NM_006737.3			1/9		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF121,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		rs652188	.												T	2	4	83	54850487	54850487	G	T	1	0	0	0	0	0	0	0	1	8185	1103	39	1		1	KIR3DL2	19	54850487	Silent	SNP	G	C3N-01823_TP	255252	54850487	3767129	466	27809											
ZNF628	0	.	GRCh38	chr19	55482565	55482565	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggccctacaaatgtgccGagtgcggcaagtccttcaag	10	7	12	12	3	1	0	1	0	0	0	2	1	2	0	3	2	4	1	3	2	4	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1372G>T	p.Glu458Ter	p.E458*	ENST00000598519	3/3	111	103	8	63	63	0	strelka-varscan-mutect	ZNF628,stop_gained,p.Glu458Ter,ENST00000598519,NM_033113.2;ZNF628,stop_gained,p.Glu457Ter,ENST00000391718,;NAT14,upstream_gene_variant,,ENST00000205194,NM_020378.3;NAT14,upstream_gene_variant,,ENST00000591590,;NAT14,upstream_gene_variant,,ENST00000588985,;ZNF628,downstream_gene_variant,,ENST00000591164,;NAT14,upstream_gene_variant,,ENST00000587400,;NAT14,upstream_gene_variant,,ENST00000592719,;	T	ENST00000598519	Transcript	stop_gained	1925/3847	1372/3180	458/1059	E/*	Gag/Tag		1		1	ZNF628	HGNC	HGNC:28054	protein_coding	YES	CCDS33116.3	ENSP00000469591	Q5EBL2		UPI00026B9C6E	NM_033113.2			3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF19,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		rs1172822139	.												T	4	4	83	55482565	55482565	G	T	1	0	0	0	0	0	1	0	0	18627	1059	37	1		1	ZNF628	19	55482565	Nonsense_Mutation	SNP	G	C3N-01823_TP	632078	55482565	3135051	467	27810											
ZSCAN5A	0	.	GRCh38	chr19	56222148	56222148	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctcttcttgggaaatGgaggaggcatctggtttgct	7	13	15	6	0	3	1	0	1	3	0	3	4	3	4	0	6	1	4	0	6	1	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.918C>T	p.=	p.S306S	ENST00000391713	5/5	472	419	53	340	340	0	varscan-mutect	ZSCAN5A,synonymous_variant,p.=,ENST00000391713,NM_024303.1;ZSCAN5A,synonymous_variant,p.=,ENST00000587340,NM_001322072.1;ZSCAN5A,synonymous_variant,p.=,ENST00000592355,;ZSCAN5A,synonymous_variant,p.=,ENST00000587492,;ZSCAN5A,synonymous_variant,p.=,ENST00000593106,;ZSCAN5A,downstream_gene_variant,,ENST00000592679,;ZSCAN5A,downstream_gene_variant,,ENST00000592509,;ZSCAN5A,downstream_gene_variant,,ENST00000588442,;ZSCAN5A,downstream_gene_variant,,ENST00000588955,;ZSCAN5A,downstream_gene_variant,,ENST00000592101,;CTD-2086L14.1,upstream_gene_variant,,ENST00000474329,;	A	ENST00000391713	Transcript	synonymous_variant	1084/3562	918/1491	306/496	S	tcC/tcT		1		-1	ZSCAN5A	HGNC	HGNC:23710	protein_coding	YES	CCDS12941.1	ENSP00000375593	Q9BUG6	A0A024R4S6	UPI0000072024	NM_024303.1			5/5		hmmpanther:PTHR10032:SF164,hmmpanther:PTHR10032																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	83	56222148	56222148	G	A	1	0	0	0	0	0	0	0	1	18837	1335	47	3		3	ZSCAN5A	19	56222148	Silent	SNP	G	C3N-01823_TP	739583	56222148	2395468	468	27811											
ZNF416	0	.	GRCh38	chr19	57575890	57575890	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagcccccattcttccTgggagaagtaaatggccacg	11	7	11	12	1	1	1	0	0	1	1	2	3	2	2	4	3	1	1	4	3	4	3	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.116A>T	p.Gln39Leu	p.Q39L	ENST00000196489	3/4	270	230	40	161	161	0	strelka-mutect	ZNF416,missense_variant,p.Gln39Leu,ENST00000196489,NM_017879.1;ZIK1,upstream_gene_variant,,ENST00000598726,;	A	ENST00000196489	Transcript	missense_variant	339/2561	116/1785	39/594	Q/L	cAg/cTg		1		-1	ZNF416	HGNC	HGNC:20645	protein_coding	YES	CCDS12954.1	ENSP00000196489	Q9BWM5		UPI000007314D	NM_017879.1	tolerated(0.17)		3/4		PROSITE_profiles:PS50805,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF160,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	57575890	57575890	T	A	1	0	0	0	0	1	0	0	0	18465	1580	55	4		4	ZNF416	19	57575890	Missense_Mutation	SNP	T	C3N-01823_TP	1353742	57575890	1041726	469	27812											
TGM6	0	.	GRCh38	chr20	2394557	2394557	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcgcaggggccagtcgtTcagcctcacgctggagctga	6	8	15	12	3	2	1	2	1	0	0	4	2	2	2	2	4	2	5	2	4	0	2	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.113T>C	p.Phe38Ser	p.F38S	ENST00000202625	2/13	739	583	156	440	440	0	strelka-varscan-mutect	TGM6,missense_variant,p.Phe38Ser,ENST00000202625,NM_198994.2;TGM6,missense_variant,p.Phe38Ser,ENST00000381423,NM_001254734.1;TGM6,non_coding_transcript_exon_variant,,ENST00000477505,;	C	ENST00000202625	Transcript	missense_variant	174/2292	113/2121	38/706	F/S	tTc/tCc		1		1	TGM6	HGNC	HGNC:16255	protein_coding	YES	CCDS13025.1	ENSP00000202625	O95932		UPI0000367011	NM_198994.2	deleterious(0)		2/13		hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF50,PIRSF_domain:PIRSF000459,Gene3D:2.60.40.10,Pfam_domain:PF00868,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	2394557	2394557	T	C	1	0	0	0	0	1	0	0	0	16267	1783	62	5		5	TGM6	20	2394557	Missense_Mutation	SNP	T	C3N-01823_TP		2394557	62049610	470	27813											
C20orf141	0	.	GRCh38	chr20	2815590	2815590	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaccaggggccagagtCagggggccggtgaaggtcct	7	7	16	11	1	2	2	2	1	1	1	4	2	3	2	4	6	0	0	4	6	1	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.313C>A	p.Gln105Lys	p.Q105K	ENST00000380589	2/2	265	205	60	120	120	0	strelka-varscan-mutect	C20orf141,missense_variant,p.Gln105Lys,ENST00000380589,NM_080739.2;C20orf141,missense_variant,p.Gln105Lys,ENST00000603872,NM_001256538.1;RP5-860F19.8,intron_variant,,ENST00000380593,;TMEM239,upstream_gene_variant,,ENST00000361033,NM_001318207.1;TMEM239,upstream_gene_variant,,ENST00000380585,NM_001167670.1;	A	ENST00000380589	Transcript	missense_variant	487/730	313/498	105/165	Q/K	Cag/Aag		1		1	C20orf141	HGNC	HGNC:16134	protein_coding	YES	CCDS13034.1	ENSP00000369963	Q9NUB4		UPI0000037B8A	NM_080739.2	deleterious(0.02)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR39222:SF1,hmmpanther:PTHR39222																	MODERATE	1	SNV	1			1										PASS		rs770443043	.												A	3	1	83	2815590	2815590	C	A	1	0	0	0	0	1	0	0	0	2002	827	29	2		2	C20orf141	20	2815590	Missense_Mutation	SNP	C	C3N-01823_TP	421033	2815590	61628577	471	27814											
CST2	0	.	GRCh38	chr20	23826609	23826609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggggctccaggccagggCcacagcctgggtggccagca	6	4	17	14	0	0	0	0	0	0	0	1	0	1	0	5	6	2	2	5	6	0	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.52G>T	p.Ala18Ser	p.A18S	ENST00000304725	1/3	279	221	58	139	139	0	strelka-mutect	CST2,missense_variant,p.Ala18Ser,ENST00000304725,NM_001322.2;	A	ENST00000304725	Transcript	missense_variant	123/748	52/426	18/141	A/S	Gcc/Tcc		1		-1	CST2	HGNC	HGNC:2474	protein_coding	YES	CCDS13161.1	ENSP00000307540	P09228		UPI0000128D74	NM_001322.2	tolerated(0.07)		1/3		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF48																	MODERATE	1	SNV	1			1										PASS		rs1427215914	.												A	3	1	83	23826609	23826609	C	A	1	0	0	0	0	1	0	0	0	3772	739	26	2		2	CST2	20	23826609	Missense_Mutation	SNP	C	C3N-01823_TP	21011019	23826609	40617558	472	27815											
PTPRT	0	.	GRCh38	chr20	42448254	42448254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaccccattggtctcattgGgaggtttccactggatgtag	7	13	12	9	0	1	1	1	1	1	0	3	3	2	3	3	4	0	2	3	4	1	4			C3N-01823_TP	C3N-01823_NB	G	G																c.1526C>A	p.Pro509His	p.P509H	ENST00000373198	9/32	374	319	55	244	243	1	strelka-varscan-mutect	PTPRT,missense_variant,p.Pro509His,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Pro509His,ENST00000373193,;PTPRT,missense_variant,p.Pro509His,ENST00000373201,;PTPRT,missense_variant,p.Pro509His,ENST00000373190,;PTPRT,missense_variant,p.Pro509His,ENST00000373184,;PTPRT,missense_variant,p.Pro509His,ENST00000356100,;PTPRT,missense_variant,p.Pro509His,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Pro127His,ENST00000612229,;PTPRT,missense_variant,p.Pro125His,ENST00000618610,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	T	ENST00000373198	Transcript	missense_variant	1762/12746	1526/4383	509/1460	P/H	cCc/cAc	COSM3546552,COSM3546553	1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	deleterious(0)		9/32		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,SMART_domains:SM00060,Superfamily_domains:SSF49265											1,1						MODERATE	1	SNV	2		1,1	1										PASS		rs1162609724	.												T	3	4	83	42448254	42448254	G	T	1	0	0	0	0	1	0	0	0	12967	1232	43	2		2	PTPRT	20	42448254	Missense_Mutation	SNP	G	C3N-01823_TP	18621645	42448254	21995913	473	27816											
RBPJL	0	.	GRCh38	chr20	45312260	45312260	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgtacatctcagatgcaGacaagaggaagcactttcgg	12	8	10	11	1	1	3	1	0	1	3	3	4	1	4	1	2	3	3	1	2	3	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.484G>C	p.Asp162His	p.D162H	ENST00000343694	6/12	591	538	53	323	323	0	strelka-varscan-mutect	RBPJL,missense_variant,p.Asp162His,ENST00000343694,NM_014276.3;RBPJL,missense_variant,p.Asp162His,ENST00000372741,NM_001281448.1;RBPJL,missense_variant,p.Asp162His,ENST00000372743,NM_001281449.1;MATN4,upstream_gene_variant,,ENST00000360607,NM_030590.3;MATN4,upstream_gene_variant,,ENST00000537548,;MATN4,upstream_gene_variant,,ENST00000353917,NM_030592.3;RBPJL,upstream_gene_variant,,ENST00000464504,;RBPJL,upstream_gene_variant,,ENST00000622729,;	C	ENST00000343694	Transcript	missense_variant	556/2489	484/1554	162/517	D/H	Gac/Cac		1		1	RBPJL	HGNC	HGNC:13761	protein_coding	YES	CCDS13349.1	ENSP00000341243	Q9UBG7		UPI0000047297	NM_014276.3	deleterious(0)		6/12		Gene3D:2.60.40.1450,Pfam_domain:PF09271,hmmpanther:PTHR10665,hmmpanther:PTHR10665:SF2,SMART_domains:SM01267,Superfamily_domains:SSF49417																	MODERATE	1	SNV	2			1										PASS		rs1219416976	.												C	3	2	83	45312260	45312260	G	C	1	0	0	0	0	1	0	0	0	13330	942	33	4		4	RBPJL	20	45312260	Missense_Mutation	SNP	G	C3N-01823_TP	2864006	45312260	19131907	474	27817											
ZNF335	0	.	GRCh38	chr20	45950514	45950514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtcagcatgtgccgacGcaggtccttcttgttcttgg	5	13	13	10	2	3	1	1	1	2	0	4	2	4	1	2	2	2	3	2	2	0	4	rs146821427		C3N-01823_TP	C3N-01823_NB	G	G																c.3271C>A	p.Arg1091Ser	p.R1091S	ENST00000322927	21/28	306	244	62	224	223	1	strelka-varscan-mutect	ZNF335,missense_variant,p.Arg1091Ser,ENST00000322927,NM_022095.3;PCIF1,downstream_gene_variant,,ENST00000372409,NM_022104.3;PCIF1,downstream_gene_variant,,ENST00000479348,;	T	ENST00000322927	Transcript	missense_variant	3372/4430	3271/4029	1091/1342	R/S	Cgt/Agt	rs146821427	1		-1	ZNF335	HGNC	HGNC:15807	protein_coding	YES	CCDS13389.1	ENSP00000325326	Q9H4Z2		UPI0000001BC3	NM_022095.3	tolerated(0.18)		21/28		Gene3D:3.30.160.60,Pfam_domain:PF13909,PROSITE_profiles:PS50157,hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF36,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs146821427	.												T	3	4	83	45950514	45950514	G	T	1	0	0	0	0	1	0	0	0	18424	1087	38	1		1	ZNF335	20	45950514	Missense_Mutation	SNP	G	C3N-01823_TP	638254	45950514	18493653	475	27818											
MMP9	0	.	GRCh38	chr20	46010019	46010019	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggccatgcgaaccccaCggtgcggggtcccagacctg	8	5	14	14	3	0	2	0	1	0	1	1	3	1	2	5	4	3	0	5	4	2	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.292C>A	p.=	p.R98R	ENST00000372330	2/13	491	409	82	242	242	0	strelka-varscan-mutect	MMP9,synonymous_variant,p.=,ENST00000372330,NM_004994.2;RP11-465L10.10,downstream_gene_variant,,ENST00000535913,;	A	ENST00000372330	Transcript	synonymous_variant	311/2336	292/2124	98/707	R	Cgg/Agg		1		1	MMP9	HGNC	HGNC:7176	protein_coding	YES	CCDS13390.1	ENSP00000361405	P14780		UPI000013C712	NM_004994.2			2/13		hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF30,PROSITE_patterns:PS00546,Gene3D:3.40.390.10,Superfamily_domains:SSF47090,Prints_domain:PR00138																	LOW	1	SNV	1			1										PASS		rs1371238110	.												A	2	1	83	46010019	46010019	C	A	1	0	0	0	0	0	0	0	1	9632	527	19	1		1	MMP9	20	46010019	Silent	SNP	C	C3N-01823_TP	59505	46010019	18434148	476	27819											
PREX1	0	.	GRCh38	chr20	48627911	48627911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcacttgggcagcaaccCgtggctccgtgccaagatgg	8	7	14	12	2	0	1	0	0	0	1	1	2	1	1	3	3	4	4	3	3	2	1	rs771519895		C3N-01823_TP	C3N-01823_NB	C	C																c.4819G>A	p.Gly1607Arg	p.G1607R	ENST00000371941	38/40	229	217	12	161	161	0	strelka-varscan-mutect	PREX1,missense_variant,p.Gly1607Arg,ENST00000371941,NM_020820.3;PREX1,3_prime_UTR_variant,,ENST00000482556,;	T	ENST00000371941	Transcript	missense_variant	4842/6636	4819/4980	1607/1659	G/R	Ggg/Agg	rs771519895,COSM3295199	1		-1	PREX1	HGNC	HGNC:32594	protein_coding	YES	CCDS13410.1	ENSP00000361009	Q8TCU6		UPI000013D375	NM_020820.3	deleterious(0)		38/40		hmmpanther:PTHR22829:SF6,hmmpanther:PTHR22829											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs771519895	.												T	3	4	83	48627911	48627911	C	T	1	0	0	0	0	1	0	0	0	12610	652	23	1		1	PREX1	20	48627911	Missense_Mutation	SNP	C	C3N-01823_TP	2617892	48627911	15816256	477	27820											
PTGIS	0	.	GRCh38	chr20	49544345	49544345	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcgaggagacccatctCgtgccagccactgcctgctt	8	8	11	14	2	1	1	0	0	1	1	3	4	1	1	4	1	4	1	4	1	1	1	rs767832954		C3N-01823_TP	C3N-01823_NB	C	C																c.481G>T	p.Glu161Ter	p.E161*	ENST00000244043	4/10	380	282	98	170	169	1	strelka-varscan-mutect	PTGIS,stop_gained,p.Glu161Ter,ENST00000244043,NM_000961.3;PTGIS,non_coding_transcript_exon_variant,,ENST00000478971,;	A	ENST00000244043	Transcript	stop_gained	511/5579	481/1503	161/500	E/*	Gag/Tag	rs767832954,COSM3911547	1		-1	PTGIS	HGNC	HGNC:9603	protein_coding	YES	CCDS13419.1	ENSP00000244043	Q16647		UPI00001328DF	NM_000961.3			4/10		hmmpanther:PTHR24306,hmmpanther:PTHR24306:SF4,PIRSF_domain:PIRSF500628,PIRSF_domain:PIRSF000047,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs767832954	.												A	4	1	83	49544345	49544345	C	A	1	0	0	0	0	0	1	0	0	12908	893	31	1		1	PTGIS	20	49544345	Nonsense_Mutation	SNP	C	C3N-01823_TP	916434	49544345	14899822	478	27821											
MOCS3	0	.	GRCh38	chr20	50958997	50958997	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgtcgccgctgccgccgaAggccgctctgtcccgagatg	4	7	15	15	6	1	1	0	0	1	1	3	3	2	1	5	2	1	2	5	2	1	0	novel		C3N-01823_TP	C3N-01823_NB	A	A																c.155A>T	p.Lys52Met	p.K52M	ENST00000244051	1/1	178	140	38	103	103	0	strelka-varscan-mutect	MOCS3,missense_variant,p.Lys52Met,ENST00000244051,NM_014484.4;DPM1,upstream_gene_variant,,ENST00000371582,NM_001317035.1;DPM1,upstream_gene_variant,,ENST00000371588,NM_003859.1;DPM1,upstream_gene_variant,,ENST00000371584,;DPM1,upstream_gene_variant,,ENST00000413082,;DPM1,upstream_gene_variant,,ENST00000466152,;	T	ENST00000244051	Transcript	missense_variant	172/5106	155/1383	52/460	K/M	aAg/aTg		1		1	MOCS3	HGNC	HGNC:15765	protein_coding	YES	CCDS13435.1	ENSP00000244051	O95396		UPI000012F369	NM_014484.4	deleterious(0.03)		1/1		HAMAP:MF_03049,hmmpanther:PTHR10953,Superfamily_domains:SSF69572																	MODERATE		SNV				1										PASS		.	.												T	3	4	83	50958997	50958997	A	T	1	0	0	0	0	1	0	0	0	9655	72	3	4		4	MOCS3	20	50958997	Missense_Mutation	SNP	A	C3N-01823_TP	1414652	50958997	13485170	479	27822											
PHACTR3	0	.	GRCh38	chr20	59743128	59743128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagatggaccaaacgccccCggcgcgtcctgaatatctgg	9	7	12	13	4	1	2	0	2	1	1	2	4	2	3	4	3	1	0	4	3	3	1	rs199841810		C3N-01823_TP	C3N-01823_NB	C	C																c.140C>A	p.Pro47Gln	p.P47Q	ENST00000371015	2/13	209	156	53	101	101	0	strelka-varscan-mutect	PHACTR3,missense_variant,p.Pro47Gln,ENST00000371015,NM_080672.4;PHACTR3,missense_variant,p.Pro6Gln,ENST00000395636,NM_183244.1;PHACTR3,missense_variant,p.Pro6Gln,ENST00000541461,NM_001281507.1;PHACTR3,missense_variant,p.Pro44Gln,ENST00000359926,NM_001199505.1;PHACTR3,missense_variant,p.Pro6Gln,ENST00000355648,NM_001199506.1;PHACTR3,missense_variant,p.Pro6Gln,ENST00000361300,NM_183246.1;PHACTR3,downstream_gene_variant,,ENST00000434923,;	A	ENST00000371015	Transcript	missense_variant	607/2728	140/1680	47/559	P/Q	cCg/cAg	rs199841810,COSM3939422	1		1	PHACTR3	HGNC	HGNC:15833	protein_coding	YES	CCDS13480.1	ENSP00000360054	Q96KR7		UPI000006D452	NM_080672.4	deleterious(0.01)		2/13		hmmpanther:PTHR12751:SF7,hmmpanther:PTHR12751											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs199841810	.												A	3	1	83	59743128	59743128	C	A	1	0	0	0	0	1	0	0	0	11900	652	23	1		1	PHACTR3	20	59743128	Missense_Mutation	SNP	C	C3N-01823_TP	8784131	59743128	4701039	480	27823											
LAMA5	0	.	GRCh38	chr20	62318952	62318952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggccagtgtccggagcagCtgctcacctgatggagccga	7	7	14	13	3	1	1	1	1	0	0	3	4	2	3	4	3	4	3	4	3	0	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.6933G>T	p.Gln2311His	p.Q2311H	ENST00000252999	52/80	247	187	60	133	133	0	strelka-varscan-mutect	LAMA5,missense_variant,p.Gln2311His,ENST00000252999,NM_005560.4;LAMA5,non_coding_transcript_exon_variant,,ENST00000481120,;LAMA5,upstream_gene_variant,,ENST00000370691,;LAMA5,downstream_gene_variant,,ENST00000464134,;LAMA5,upstream_gene_variant,,ENST00000471042,;	A	ENST00000252999	Transcript	missense_variant	7000/11426	6933/11088	2311/3695	Q/H	caG/caT		1		-1	LAMA5	HGNC	HGNC:6485	protein_coding	YES	CCDS33502.1	ENSP00000252999	O15230		UPI0000161FDC	NM_005560.4	tolerated(0.2)		52/80		Pfam_domain:PF06008																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	62318952	62318952	C	A	1	0	0	0	0	1	0	0	0	8513	796	28	2		2	LAMA5	20	62318952	Missense_Mutation	SNP	C	C3N-01823_TP	2575824	62318952	2125215	481	27824											
LAMA5	0	.	GRCh38	chr20	62328426	62328426	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccgtgagctcgtcacagagGcgggcaccgcagtcacaggc	8	4	14	15	4	2	2	2	1	0	1	3	2	2	2	2	3	1	3	2	3	0	0	rs369784534		C3N-01823_TP	C3N-01823_NB	G	G																c.4467C>G	p.=	p.R1489R	ENST00000252999	35/80	40	36	4	17	17	0	strelka-mutect	LAMA5,synonymous_variant,p.=,ENST00000252999,NM_005560.4;LAMA5,downstream_gene_variant,,ENST00000577688,;LAMA5,upstream_gene_variant,,ENST00000497363,;LAMA5,upstream_gene_variant,,ENST00000464134,;	C	ENST00000252999	Transcript	synonymous_variant	4534/11426	4467/11088	1489/3695	R	cgC/cgG	rs369784534	1		-1	LAMA5	HGNC	HGNC:6485	protein_coding	YES	CCDS33502.1	ENSP00000252999	O15230		UPI0000161FDC	NM_005560.4			35/80		PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF261,hmmpanther:PTHR10574,PROSITE_patterns:PS01248,SMART_domains:SM00180																	LOW	1	SNV	1			1										PASS		rs369784534	.												C	2	2	83	62328426	62328426	G	C	1	0	0	0	0	0	0	0	1	8513	1190	42	4		4	LAMA5	20	62328426	Silent	SNP	G	C3N-01823_TP	9474	62328426	2115741	482	27825											
NCAM2	0	.	GRCh38	chr21	21286340	21286340	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgcagaagtggtttgcCgagttagcagttcacctgca	11	10	12	8	1	1	2	1	0	0	2	1	3	1	2	2	1	4	6	2	1	3	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.409C>A	p.=	p.R137R	ENST00000400546	4/18	252	239	13	206	205	1	strelka-varscan-mutect	NCAM2,synonymous_variant,p.=,ENST00000400546,NM_004540.3;NCAM2,synonymous_variant,p.=,ENST00000284894,;NCAM2,non_coding_transcript_exon_variant,,ENST00000486367,;NCAM2,upstream_gene_variant,,ENST00000461281,;	A	ENST00000400546	Transcript	synonymous_variant	658/8135	409/2514	137/837	R	Cga/Aga		1		1	NCAM2	HGNC	HGNC:7657	protein_coding	YES	CCDS42910.1	ENSP00000383392	O15394		UPI00001A3703	NM_004540.3			4/18		Gene3D:2.60.40.10,Pfam_domain:PF07679,Prints_domain:PR01838,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF35,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs1454498622	.												A	2	1	83	21286340	21286340	C	A	1	0	0	0	0	0	0	0	1	10219	644	23	1		1	NCAM2	21	21286340	Silent	SNP	C	C3N-01823_TP		21286340	25423643	483	27826											
GRIK1	0	.	GRCh38	chr21	29561632	29561632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacccgtcttaccaataggtGttcccactccgtaacctttg	8	13	6	14	2	1	0	0	0	1	0	3	0	3	0	5	1	3	2	5	1	5	6	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2348C>A	p.Thr783Lys	p.T783K	ENST00000399907	15/17	186	168	18	134	134	0	strelka-varscan-mutect	GRIK1,missense_variant,p.Thr768Lys,ENST00000399914,;GRIK1,missense_variant,p.Thr783Lys,ENST00000399907,NM_000830.3;GRIK1,missense_variant,p.Thr768Lys,ENST00000399909,;GRIK1,missense_variant,p.Thr783Lys,ENST00000399913,;GRIK1,missense_variant,p.Thr783Lys,ENST00000327783,;GRIK1,missense_variant,p.Thr768Lys,ENST00000389125,NM_175611.2;GRIK1,missense_variant,p.Thr783Lys,ENST00000389124,;BACH1,intron_variant,,ENST00000422809,;BACH1,intron_variant,,ENST00000468059,;	T	ENST00000399907	Transcript	missense_variant	2760/3472	2348/2757	783/918	T/K	aCa/aAa		1		-1	GRIK1	HGNC	HGNC:4579	protein_coding	YES	CCDS42913.1	ENSP00000382791	P39086		UPI000012B612	NM_000830.3	deleterious(0)		15/17		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850																	MODERATE	1	SNV	1			1										PASS		rs1409612155	.												T	3	4	83	29561632	29561632	G	T	1	0	0	0	0	1	0	0	0	6655	1377	48	2		2	GRIK1	21	29561632	Missense_Mutation	SNP	G	C3N-01823_TP	8275292	29561632	17148351	484	27827											
CLDN8	0	.	GRCh38	chr21	30215716	30215716	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtccggagaaagagccagCagggaatcatagattttgca	14	7	13	7	1	1	3	1	0	0	3	2	5	2	4	2	3	3	2	2	3	3	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.210G>T	p.=	p.L70L	ENST00000399899	1/1	185	145	40	122	122	0	strelka-varscan-mutect	CLDN8,synonymous_variant,p.=,ENST00000399899,NM_199328.2;LINC00307,upstream_gene_variant,,ENST00000451410,;	A	ENST00000399899	Transcript	synonymous_variant	358/2068	210/678	70/225	L	ctG/ctT		1		-1	CLDN8	HGNC	HGNC:2050	protein_coding	YES	CCDS13587.1	ENSP00000382783	P56748	A0A0K0K1I9	UPI00000389FD	NM_199328.2			1/1		Pfam_domain:PF00822,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF24																	LOW		SNV				1										PASS		.	.												A	2	1	83	30215716	30215716	C	A	1	0	0	0	0	0	0	0	1	3257	697	25	2		2	CLDN8	21	30215716	Silent	SNP	C	C3N-01823_TP	654084	30215716	16494267	485	27828											
DYRK1A	0	.	GRCh38	chr21	37512087	37512087	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccaccaccaccaccatcaCcaccaccatggacaacaagc	15	2	3	21	0	1	0	1	0	0	0	1	1	1	1	8	1	2	0	8	1	2	0	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1848C>T	p.=	p.H616H	ENST00000398960	11/11	307	248	59	224	224	0	strelka-varscan-mutect	DYRK1A,synonymous_variant,p.=,ENST00000339659,NM_130436.2;DYRK1A,synonymous_variant,p.=,ENST00000398960,NM_001396.3;DYRK1A,3_prime_UTR_variant,,ENST00000338785,NM_101395.2;DYRK1A,downstream_gene_variant,,ENST00000398956,NM_130438.2;	T	ENST00000398960	Transcript	synonymous_variant	1923/2422	1848/2292	616/763	H	caC/caT		1		1	DYRK1A	HGNC	HGNC:3091	protein_coding	YES	CCDS42925.1	ENSP00000381932	Q13627		UPI0000129A31	NM_001396.3			11/11		Low_complexity_(Seg):seg,hmmpanther:PTHR24058:SF28,hmmpanther:PTHR24058																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	37512087	37512087	C	T	1	0	0	0	0	0	0	0	1	4678	506	18	3		3	DYRK1A	21	37512087	Silent	SNP	C	C3N-01823_TP	7296371	37512087	9197896	486	27829											
TRAPPC10	0	.	GRCh38	chr21	44083242	44083242	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggagggtgcccacgtGctgaggtgcagccacgtgac	7	6	17	11	2	0	2	0	2	0	0	0	4	0	4	2	4	4	2	2	4	0	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.2178G>T	p.=	p.V726V	ENST00000291574	14/23	255	240	15	142	141	1	strelka-varscan-mutect	TRAPPC10,synonymous_variant,p.=,ENST00000291574,NM_003274.4;TRAPPC10,3_prime_UTR_variant,,ENST00000422875,;TRAPPC10,upstream_gene_variant,,ENST00000459741,;TRAPPC10,downstream_gene_variant,,ENST00000461889,;TRAPPC10,downstream_gene_variant,,ENST00000481460,;	T	ENST00000291574	Transcript	synonymous_variant	2353/6976	2178/3780	726/1259	V	gtG/gtT		1		1	TRAPPC10	HGNC	HGNC:11868	protein_coding	YES	CCDS13704.1	ENSP00000291574	P48553		UPI0000129E26	NM_003274.4			14/23		hmmpanther:PTHR13251																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	83	44083242	44083242	G	T	1	0	0	0	0	0	0	0	1	16940	1306	46	2		2	TRAPPC10	21	44083242	Silent	SNP	G	C3N-01823_TP	6571155	44083242	2626741	487	27830											
SLC19A1	0	.	GRCh38	chr21	45531788	45531788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagatgtagttgagcgTggagaaggagactcggccca	11	6	16	8	3	0	4	0	1	0	3	1	7	0	4	1	3	2	2	1	3	2	2	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.550A>G	p.Thr184Ala	p.T184A	ENST00000311124	3/6	361	338	23	222	221	1	strelka-varscan-mutect	SLC19A1,missense_variant,p.Thr184Ala,ENST00000311124,NM_194255.2;SLC19A1,missense_variant,p.Thr184Ala,ENST00000567670,;SLC19A1,missense_variant,p.Thr144Ala,ENST00000485649,NM_001205207.1;SLC19A1,missense_variant,p.Thr184Ala,ENST00000380010,NM_001205206.1;SLC19A1,upstream_gene_variant,,ENST00000417954,;SLC19A1,downstream_gene_variant,,ENST00000443742,;SLC19A1,downstream_gene_variant,,ENST00000427839,;SLC19A1,downstream_gene_variant,,ENST00000486303,;	C	ENST00000311124	Transcript	missense_variant	703/3811	550/1776	184/591	T/A	Acg/Gcg		1		-1	SLC19A1	HGNC	HGNC:10937	protein_coding	YES	CCDS13725.1	ENSP00000308895	P41440		UPI000012AA0F	NM_194255.2	tolerated(0.28)		3/6		Gene3D:1.20.1250.20,Pfam_domain:PF01770,PIRSF_domain:PIRSF028739,PIRSF_domain:PIRSF500793,hmmpanther:PTHR10686,hmmpanther:PTHR10686:SF12,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00806,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	83	45531788	45531788	T	C	1	0	0	0	0	1	0	0	0	14694	1696	59	5		5	SLC19A1	21	45531788	Missense_Mutation	SNP	T	C3N-01823_TP	1448546	45531788	1178195	488	27831											
CLTCL1	0	.	GRCh38	chr22	19196326	19196326	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggggtggctcatcatGgtgagcacagcattgtcata	9	11	13	8	0	4	1	4	1	0	0	4	1	4	1	0	4	2	3	0	4	1	2	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.4131C>T	p.=	p.T1377T	ENST00000427926	26/33	270	256	14	215	215	0	strelka-varscan-mutect	CLTCL1,synonymous_variant,p.=,ENST00000427926,NM_007098.3;CLTCL1,synonymous_variant,p.=,ENST00000621271,NM_001835.3;CLTCL1,synonymous_variant,p.=,ENST00000622493,;CLTCL1,synonymous_variant,p.=,ENST00000617926,;CLTCL1,3_prime_UTR_variant,,ENST00000617103,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000615606,;CLTCL1,downstream_gene_variant,,ENST00000611723,;	A	ENST00000427926	Transcript	synonymous_variant	4204/5513	4131/4923	1377/1640	T	acC/acT		1		-1	CLTCL1	HGNC	HGNC:2093	protein_coding	YES	CCDS46662.2	ENSP00000441158	P53675		UPI0000127ABE	NM_007098.3			26/33		PROSITE_profiles:PS50236,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,Gene3D:1.25.40.10,Pfam_domain:PF00637,PIRSF_domain:PIRSF002290,SMART_domains:SM00299,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	83	19196326	19196326	G	A	1	0	0	0	0	0	0	0	1	3339	1335	47	3		3	CLTCL1	22	19196326	Silent	SNP	G	C3N-01823_TP		19196326	31622142	489	27832											
CLTCL1	0	.	GRCh38	chr22	19210459	19210459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgatgtactccatgaccCgtgtgcggtctgccttgatg	5	12	13	11	2	1	3	0	3	1	0	2	3	2	3	3	2	3	2	3	2	1	2	rs781878409		C3N-01823_TP	C3N-01823_NB	C	C																c.3116G>C	p.Arg1039Pro	p.R1039P	ENST00000427926	20/33	216	187	29	152	152	0	strelka-varscan-mutect	CLTCL1,missense_variant,p.Arg1039Pro,ENST00000427926,NM_007098.3;CLTCL1,missense_variant,p.Arg1039Pro,ENST00000621271,NM_001835.3;CLTCL1,upstream_gene_variant,,ENST00000622493,;CLTCL1,upstream_gene_variant,,ENST00000617926,;CLTCL1,missense_variant,p.Arg1039Pro,ENST00000617103,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000615606,;CLTCL1,upstream_gene_variant,,ENST00000611723,;	G	ENST00000427926	Transcript	missense_variant	3189/5513	3116/4923	1039/1640	R/P	cGg/cCg	rs781878409	1		-1	CLTCL1	HGNC	HGNC:2093	protein_coding	YES	CCDS46662.2	ENSP00000441158	P53675		UPI0000127ABE	NM_007098.3	deleterious(0)		20/33		PROSITE_profiles:PS50236,hmmpanther:PTHR10292,hmmpanther:PTHR10292:SF6,Pfam_domain:PF00637,PIRSF_domain:PIRSF002290,SMART_domains:SM00299,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs781878409	.												G	3	3	83	19210459	19210459	C	G	1	0	0	0	0	1	0	0	0	3339	652	23	4		4	CLTCL1	22	19210459	Missense_Mutation	SNP	C	C3N-01823_TP	14133	19210459	31608009	490	27833											
SEZ6L	0	.	GRCh38	chr22	26347799	26347799	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctcacacggagttggtgCggggagccagaatcacctac	9	8	12	12	2	2	1	2	0	1	1	3	3	2	3	2	4	3	1	2	4	2	3	rs745800880		C3N-01823_TP	C3N-01823_NB	C	C																c.2293C>G	p.Arg765Gly	p.R765G	ENST00000248933	11/17	293	266	27	167	167	0	strelka-varscan-mutect	SEZ6L,missense_variant,p.Arg765Gly,ENST00000529632,NM_001184775.1;SEZ6L,missense_variant,p.Arg765Gly,ENST00000360929,NM_001184776.1;SEZ6L,missense_variant,p.Arg765Gly,ENST00000404234,NM_001184773.1;SEZ6L,missense_variant,p.Arg538Gly,ENST00000402979,;SEZ6L,missense_variant,p.Arg765Gly,ENST00000248933,NM_021115.4;SEZ6L,missense_variant,p.Arg765Gly,ENST00000629590,NM_001184774.1;SEZ6L,missense_variant,p.Arg538Gly,ENST00000403121,;SEZ6L,missense_variant,p.Arg765Gly,ENST00000343706,NM_001184777.1;SEZ6L,non_coding_transcript_exon_variant,,ENST00000483291,;	G	ENST00000248933	Transcript	missense_variant	2388/3248	2293/3075	765/1024	R/G	Cgg/Ggg	rs745800880,COSM5057737	1		1	SEZ6L	HGNC	HGNC:10763	protein_coding	YES	CCDS13833.1	ENSP00000248933	Q9BYH1		UPI0000136779	NM_021115.4	deleterious(0)		11/17		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81,SMART_domains:SM00032,Superfamily_domains:SSF57535											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs745800880	.												G	3	3	83	26347799	26347799	C	G	1	0	0	0	0	1	0	0	0	14422	759	27	4		4	SEZ6L	22	26347799	Missense_Mutation	SNP	C	C3N-01823_TP	7137340	26347799	24470669	491	27834											
GAL3ST1	0	.	GRCh38	chr22	30556048	30556048	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcccggatcactgcctcTggctcgagtgcaggtggaga	6	9	15	11	2	2	1	1	0	1	1	3	4	2	2	2	5	2	2	2	5	0	1	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.177A>T	p.=	p.P59P	ENST00000402321	3/3	147	123	24	89	89	0	strelka-varscan-mutect	GAL3ST1,synonymous_variant,p.=,ENST00000402321,;GAL3ST1,synonymous_variant,p.=,ENST00000406361,NM_001318104.1,NM_001318113.1;GAL3ST1,synonymous_variant,p.=,ENST00000401975,NM_001318110.1,NM_001318115.1,NM_004861.1;GAL3ST1,synonymous_variant,p.=,ENST00000338911,;GAL3ST1,synonymous_variant,p.=,ENST00000402369,NM_001318103.1,NM_001318109.1;GAL3ST1,synonymous_variant,p.=,ENST00000406955,NM_001318112.1,NM_001318114.1;GAL3ST1,synonymous_variant,p.=,ENST00000441967,;GAL3ST1,synonymous_variant,p.=,ENST00000452827,;GAL3ST1,synonymous_variant,p.=,ENST00000431313,;GAL3ST1,synonymous_variant,p.=,ENST00000437282,;GAL3ST1,synonymous_variant,p.=,ENST00000423299,;GAL3ST1,synonymous_variant,p.=,ENST00000423371,;GAL3ST1,synonymous_variant,p.=,ENST00000453479,;GAL3ST1,synonymous_variant,p.=,ENST00000443136,;GAL3ST1,synonymous_variant,p.=,ENST00000416358,;GAL3ST1,synonymous_variant,p.=,ENST00000448604,;GAL3ST1,synonymous_variant,p.=,ENST00000411821,;GAL3ST1,synonymous_variant,p.=,ENST00000445645,;GAL3ST1,synonymous_variant,p.=,ENST00000447224,;GAL3ST1,synonymous_variant,p.=,ENST00000426220,;GAL3ST1,synonymous_variant,p.=,ENST00000428682,;GAL3ST1,synonymous_variant,p.=,ENST00000427899,;	A	ENST00000402321	Transcript	synonymous_variant	495/1908	177/1272	59/423	P	ccA/ccT		1		-1	GAL3ST1	HGNC	HGNC:24240	protein_coding	YES	CCDS13879.1	ENSP00000385735	Q99999	A0A024R1D7	UPI00001285C2				3/3		Pfam_domain:PF06990,hmmpanther:PTHR14647,hmmpanther:PTHR14647:SF56																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	83	30556048	30556048	T	A	1	0	0	0	0	0	0	0	1	6065	1567	55	4		4	GAL3ST1	22	30556048	Silent	SNP	T	C3N-01823_TP	4208249	30556048	20262420	492	27835											
MORC2	0	.	GRCh38	chr22	30946387	30946387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcgagacaggaagaggCaggtcatggtgtcttccttc	9	9	14	9	2	2	2	1	0	1	2	4	4	3	3	1	4	1	1	1	4	1	2	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.380G>T	p.Cys127Phe	p.C127F	ENST00000397641	6/26	144	132	12	91	91	0	strelka-varscan-mutect	MORC2,missense_variant,p.Cys127Phe,ENST00000397641,NM_001303257.1,NM_001303256.1;MORC2,missense_variant,p.Cys65Phe,ENST00000215862,NM_014941.2;MORC2,upstream_gene_variant,,ENST00000469915,;MORC2,non_coding_transcript_exon_variant,,ENST00000476152,;	A	ENST00000397641	Transcript	missense_variant	789/5181	380/3099	127/1032	C/F	tGc/tTc		1		-1	MORC2	HGNC	HGNC:23573	protein_coding	YES	CCDS77668.1	ENSP00000380763	Q9Y6X9		UPI000041AB7E	NM_001303257.1,NM_001303256.1	deleterious(0)		6/26		hmmpanther:PTHR23337:SF7,hmmpanther:PTHR23337,Pfam_domain:PF13589,Gene3D:3.30.565.10,Superfamily_domains:SSF55874																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	83	30946387	30946387	C	A	1	0	0	0	0	1	0	0	0	9666	710	25	2		2	MORC2	22	30946387	Missense_Mutation	SNP	C	C3N-01823_TP	390339	30946387	19872081	493	27836											
SFI1	0	.	GRCh38	chr22	31611259	31611259	+	Frame_Shift_Del	DEL	C	C	-																															ggcagctgctgctggaggggCtggcccggtggaagacgcac																								novel		C3N-01823_TP	C3N-01823_NB	C	C																c.2371delC	p.Leu791TrpfsTer110	p.L791Wfs*110	ENST00000400288	23/33	155	144	11	99	99	0	varindel-pindel	SFI1,frameshift_variant,p.Leu736TrpfsTer110,ENST00000540643,NM_001258325.1;SFI1,frameshift_variant,p.Leu760TrpfsTer110,ENST00000432498,NM_014775.3;SFI1,frameshift_variant,p.Leu791TrpfsTer110,ENST00000400288,NM_001007467.2;SFI1,frameshift_variant,p.Leu709TrpfsTer110,ENST00000400289,NM_001258326.1,NM_001258327.1;SFI1,frameshift_variant,p.Leu638TrpfsTer110,ENST00000443011,;SFI1,frameshift_variant,p.Leu374TrpfsTer110,ENST00000417682,;SFI1,non_coding_transcript_exon_variant,,ENST00000466991,;SFI1,upstream_gene_variant,,ENST00000474741,;SFI1,upstream_gene_variant,,ENST00000463436,;SFI1,frameshift_variant,p.Trp381GlyfsTer165,ENST00000452250,;SFI1,3_prime_UTR_variant,,ENST00000524296,;SFI1,non_coding_transcript_exon_variant,,ENST00000382162,;SFI1,non_coding_transcript_exon_variant,,ENST00000491973,;SFI1,upstream_gene_variant,,ENST00000464333,;SFI1,upstream_gene_variant,,ENST00000476577,;SFI1,upstream_gene_variant,,ENST00000357852,;SFI1,upstream_gene_variant,,ENST00000495107,;SFI1,downstream_gene_variant,,ENST00000488883,;	-	ENST00000400288	Transcript	frameshift_variant	2476/4002	2371/3729	791/1242	L/X	Ctg/tg		1		1	SFI1	HGNC	HGNC:29064	protein_coding	YES	CCDS43004.1	ENSP00000383145	A8K8P3		UPI00004703B1	NM_001007467.2			23/33		hmmpanther:PTHR22028,hmmpanther:PTHR22028:SF4																	HIGH	1	deletion	2			1										PASS		.	.												-	7	5	83	31611259	31611259	C	-	1	0	1	0	1	0	0	0	0	14434	796	28	0		0	SFI1	22	31611259	Frame_Shift_Del	DEL	C	C3N-01823_TP	664872	31611259	19207209	494	27837											
NLGN4X	0	.	GRCh38	chrX	5903404	5903404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccttatcggcccagtctGtgtacatgaacttgatagtc	8	15	8	10	1	1	2	0	2	1	0	4	2	2	2	2	1	2	1	2	1	4	5	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1274C>A	p.Thr425Lys	p.T425K	ENST00000381095	5/6	217	156	61	95	95	0	strelka-varscan-mutect	NLGN4X,missense_variant,p.Thr425Lys,ENST00000381095,NM_181332.2,NM_001282145.1;NLGN4X,missense_variant,p.Thr425Lys,ENST00000381093,NM_001282146.1;NLGN4X,missense_variant,p.Thr425Lys,ENST00000275857,NM_020742.3;NLGN4X,missense_variant,p.Thr425Lys,ENST00000381092,;NLGN4X,missense_variant,p.Thr426Lys,ENST00000538097,;NLGN4X,upstream_gene_variant,,ENST00000477079,;	T	ENST00000381095	Transcript	missense_variant	1902/5870	1274/2451	425/816	T/K	aCa/aAa		1		-1	NLGN4X	HGNC	HGNC:14287	protein_coding	YES	CCDS14126.1	ENSP00000370485	Q8N0W4	A0A024RBV0	UPI0000072EC5	NM_181332.2,NM_001282145.1	deleterious(0)		5/6		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF260,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	5903404	5903404	G	T	1	0	0	0	0	1	0	0	0	10501	1377	48	2		2	NLGN4X	23	5903404	Missense_Mutation	SNP	G	C3N-01823_TP		5903404	150137491	495	27838											
SHROOM2	0	.	GRCh38	chrX	9894706	9894706	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctcggaggagaagctcagTtgtttcccgcccagggtccc	6	8	14	13	2	1	1	1	0	0	1	4	3	3	2	3	4	1	4	3	4	1	2	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.798T>A	p.Ser266Arg	p.S266R	ENST00000380913	4/10	161	130	31	87	87	0	strelka-varscan-mutect	SHROOM2,missense_variant,p.Ser266Arg,ENST00000380913,NM_001649.2;SHROOM2,upstream_gene_variant,,ENST00000493668,;	A	ENST00000380913	Transcript	missense_variant	888/7447	798/4851	266/1616	S/R	agT/agA		1		1	SHROOM2	HGNC	HGNC:630	protein_coding	YES	CCDS14135.1	ENSP00000370299	Q13796		UPI0000125D05	NM_001649.2	tolerated(0.16)		4/10		hmmpanther:PTHR15012:SF8,hmmpanther:PTHR15012																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	9894706	9894706	T	A	1	0	0	0	0	1	0	0	0	14557	1722	60	4		4	SHROOM2	23	9894706	Missense_Mutation	SNP	T	C3N-01823_TP	3991302	9894706	146146189	496	27839											
PHKA2	0	.	GRCh38	chrX	18894350	18894350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtactcgggctgcggcaCgcggttcagcaccgattcga	6	7	14	14	7	1	0	1	0	0	0	3	2	1	0	2	4	3	5	2	4	1	3			C3N-01823_TP	C3N-01823_NB	C	C																c.3391G>A	p.Val1131Met	p.V1131M	ENST00000379942	32/33	286	256	30	199	199	0	strelka-varscan-mutect	PHKA2,missense_variant,p.Val1131Met,ENST00000379942,NM_000292.2;PHKA2-AS1,non_coding_transcript_exon_variant,,ENST00000439295,;PHKA2-AS1,downstream_gene_variant,,ENST00000452900,;PHKA2,non_coding_transcript_exon_variant,,ENST00000481718,;PHKA2,non_coding_transcript_exon_variant,,ENST00000469485,;PHKA2,non_coding_transcript_exon_variant,,ENST00000473739,;PHKA2,non_coding_transcript_exon_variant,,ENST00000473597,;PHKA2,downstream_gene_variant,,ENST00000469645,;	T	ENST00000379942	Transcript	missense_variant	4057/5559	3391/3708	1131/1235	V/M	Gtg/Atg	COSM1741671	1		-1	PHKA2	HGNC	HGNC:8926	protein_coding	YES	CCDS14190.1	ENSP00000369274	P46019		UPI000012DF4B	NM_000292.2	deleterious(0)		32/33		hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF5											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	83	18894350	18894350	C	T	1	0	0	0	0	1	0	0	0	11932	536	19	1		1	PHKA2	23	18894350	Missense_Mutation	SNP	C	C3N-01823_TP	8999644	18894350	137146545	497	27840											
FAM47B	0	.	GRCh38	chrX	34943460	34943460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaagactccggtgtccaGtcgccgcccagagcctccca	7	6	9	19	3	0	2	0	0	0	2	5	2	4	2	7	1	1	0	7	1	1	0	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.629G>T	p.Ser210Ile	p.S210I	ENST00000329357	1/1	215	179	36	132	132	0	strelka-varscan-mutect	FAM47B,missense_variant,p.Ser210Ile,ENST00000329357,NM_152631.2;	T	ENST00000329357	Transcript	missense_variant	665/2120	629/1938	210/645	S/I	aGt/aTt		1		1	FAM47B	HGNC	HGNC:26659	protein_coding	YES	CCDS14236.1	ENSP00000328307	Q8NA70		UPI000013F47B	NM_152631.2	tolerated(0.2)		1/1		Pfam_domain:PF14642,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF192																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	83	34943460	34943460	G	T	1	0	0	0	0	1	0	0	0	5448	1029	36	2		2	FAM47B	23	34943460	Missense_Mutation	SNP	G	C3N-01823_TP	16049110	34943460	121097435	498	27841											
USP9X	0	.	GRCh38	chrX	41143327	41143327	+	Frame_Shift_Del	DEL	T	T	-																															acaatatcttatccatagtgTtgcgagatagtcttcatcag																								novel		C3N-01823_TP	C3N-01823_NB	T	T																c.1199delT	p.Leu400CysfsTer11	p.L400Cfs*11	ENST00000324545	10/45	48	35	13	57	57	0	sindel-varindel-pindel	USP9X,frameshift_variant,p.Leu400CysfsTer11,ENST00000324545,NM_001039590.2;USP9X,frameshift_variant,p.Leu400CysfsTer11,ENST00000378308,NM_001039591.2;	-	ENST00000324545	Transcript	frameshift_variant	1831/12401	1198/7713	400/2570	L/X	Ttg/tg		1		1	USP9X	HGNC	HGNC:12632	protein_coding	YES	CCDS43930.1	ENSP00000316357	Q93008		UPI00001AF419	NM_001039590.2			10/45		Gene3D:1.25.10.10																	HIGH	1	deletion	5	1		1										PASS		.	.												-	7	5	83	41143327	41143327	T	-	1	0	1	0	1	0	0	0	0	17633	1722	60	0		0	USP9X	23	41143327	Frame_Shift_Del	DEL	T	C3N-01823_TP	6199867	41143327	114897568	499	27842											
CASK	0	.	GRCh38	chrX	41626611	41626611	+	Silent	SNP	G	G	A																															attatccaattacctgaggaGgtagggtcttcggagaaatc																								novel		C3N-01823_TP	C3N-01823_NB	G	G																c.1008C>T	p.=	p.T336T	ENST00000378166	10/27	214	178	36	161	161	0	strelka-varscan-mutect	CASK,synonymous_variant,p.=,ENST00000421587,NM_001126055.2;CASK,synonymous_variant,p.=,ENST00000378163,;CASK,synonymous_variant,p.=,ENST00000378158,;CASK,synonymous_variant,p.=,ENST00000378166,NM_003688.3;CASK,synonymous_variant,p.=,ENST00000442742,NM_001126054.2;CASK,synonymous_variant,p.=,ENST00000378154,;	A	ENST00000378166	Transcript	synonymous_variant	1035/3123	1008/2766	336/921	T	acC/acT		1		-1	CASK	HGNC	HGNC:1497	protein_coding	YES	CCDS14257.1	ENSP00000367408	O14936		UPI000013DA91	NM_003688.3			10/27		hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF40																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	83	41626611	41626611	G	A	1	0	0	0	0	0	0	0	1	2365	987	35	3		3	CASK	23	41626611	Silent	SNP	G	C3N-01823_TP	483284	41626611	114414284	500	27843	583	2									
CASK	0	.	GRCh38	chrX	41626613	41626613	+	Missense_Mutation	SNP	T	T	A																															tatccaattacctgaggaggTagggtcttcggagaaatctg																								novel		C3N-01823_TP	C3N-01823_NB	T	T																c.1006A>T	p.Thr336Ser	p.T336S	ENST00000378166	10/27	211	174	37	159	159	0	strelka-varscan-mutect	CASK,missense_variant,p.Thr336Ser,ENST00000421587,NM_001126055.2;CASK,missense_variant,p.Thr336Ser,ENST00000378163,;CASK,missense_variant,p.Thr336Ser,ENST00000378158,;CASK,missense_variant,p.Thr336Ser,ENST00000378166,NM_003688.3;CASK,missense_variant,p.Thr336Ser,ENST00000442742,NM_001126054.2;CASK,missense_variant,p.Thr336Ser,ENST00000378154,;	A	ENST00000378166	Transcript	missense_variant	1033/3123	1006/2766	336/921	T/S	Acc/Tcc		1		-1	CASK	HGNC	HGNC:1497	protein_coding	YES	CCDS14257.1	ENSP00000367408	O14936		UPI000013DA91	NM_003688.3	tolerated(0.86)		10/27		hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF40																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	41626613	41626613	T	A	1	0	0	0	0	1	0	0	0	2365	1638	57	4		4	CASK	23	41626613	Missense_Mutation	SNP	T	C3N-01823_TP	2	41626613	114414282	501	27844	583	2									
AKAP4	0	.	GRCh38	chrX	50193274	50193274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgggtctgatttcattttgCctttgtccctctctttcatt	4	21	6	10	0	4	1	2	1	2	0	6	1	5	1	2	1	1	0	2	1	0	6	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1439G>A	p.Gly480Asp	p.G480D	ENST00000358526	5/6	180	141	39	162	162	0	strelka-varscan-mutect	AKAP4,missense_variant,p.Gly480Asp,ENST00000358526,NM_003886.2;AKAP4,missense_variant,p.Gly471Asp,ENST00000376064,NM_139289.1;AKAP4,intron_variant,,ENST00000448865,;AKAP4,downstream_gene_variant,,ENST00000437370,;AKAP4,non_coding_transcript_exon_variant,,ENST00000481402,;AKAP4,downstream_gene_variant,,ENST00000480926,;	T	ENST00000358526	Transcript	missense_variant	1563/2881	1439/2565	480/854	G/D	gGc/gAc		1		-1	AKAP4	HGNC	HGNC:374	protein_coding	YES	CCDS14329.1	ENSP00000351327	Q5JQC9		UPI000013DA96	NM_003886.2	tolerated(0.32)		5/6		hmmpanther:PTHR10226:SF8,hmmpanther:PTHR10226,Pfam_domain:PF05716,SMART_domains:SM00807																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	50193274	50193274	C	T	1	0	0	0	0	1	0	0	0	537	739	26	3		3	AKAP4	23	50193274	Missense_Mutation	SNP	C	C3N-01823_TP	8566661	50193274	105847621	502	27845											
SHROOM4	0	.	GRCh38	chrX	50607471	50607471	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagcctgctcaggttgagatCccaagtgaccccttattgga	9	10	11	11	0	1	2	1	2	0	1	2	5	2	3	4	2	2	2	4	2	2	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.3671G>C	p.Gly1224Ala	p.G1224A	ENST00000376020	6/9	149	120	29	99	99	0	strelka-varscan-mutect	SHROOM4,missense_variant,p.Gly1224Ala,ENST00000376020,NM_020717.3;SHROOM4,missense_variant,p.Gly1108Ala,ENST00000460112,;SHROOM4,missense_variant,p.Gly1224Ala,ENST00000289292,;	G	ENST00000376020	Transcript	missense_variant	3697/9556	3671/4482	1224/1493	G/A	gGa/gCa		1		-1	SHROOM4	HGNC	HGNC:29215	protein_coding	YES	CCDS35277.1	ENSP00000365188	Q9ULL8		UPI00001C2068	NM_020717.3	tolerated(0.09)		6/9		PROSITE_profiles:PS51307,hmmpanther:PTHR15012:SF35,hmmpanther:PTHR15012																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	83	50607471	50607471	C	G	1	0	0	0	0	1	0	0	0	14559	855	30	4		4	SHROOM4	23	50607471	Missense_Mutation	SNP	C	C3N-01823_TP	414197	50607471	105433424	503	27846											
XAGE5	0	.	GRCh38	chrX	52815209	52815209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagcaatttaaaatgcCagaaggaggtatgttatcca	16	10	9	6	0	1	2	1	0	0	2	2	3	2	3	2	2	2	3	2	2	6	4	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.296C>T	p.Pro99Leu	p.P99L	ENST00000351072	4/5	72	62	10	89	89	0	strelka-varscan-mutect	XAGE5,missense_variant,p.Pro99Leu,ENST00000351072,NM_130775.2;XAGE5,missense_variant,p.Pro99Leu,ENST00000375501,;XAGE5,3_prime_UTR_variant,,ENST00000375503,;XAGE5,non_coding_transcript_exon_variant,,ENST00000445860,;	T	ENST00000351072	Transcript	missense_variant	362/478	296/327	99/108	P/L	cCa/cTa		1		1	XAGE5	HGNC	HGNC:30930	protein_coding	YES	CCDS14346.1	ENSP00000342240	Q8WWM1		UPI0000138FC9	NM_130775.2	tolerated(0.08)		4/5		hmmpanther:PTHR14047,hmmpanther:PTHR14047:SF7,Pfam_domain:PF05831,SMART_domains:SM01379																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	52815209	52815209	C	T	1	0	0	0	0	1	0	0	0	17980	594	21	3		3	XAGE5	23	52815209	Missense_Mutation	SNP	C	C3N-01823_TP	2207738	52815209	103225686	504	27847											
P2RY10	0	.	GRCh38	chrX	78961168	78961168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagtgatcatcatcgcatgGtgtacctggaaaactactat	12	11	8	10	1	2	1	2	1	0	0	3	2	2	2	2	2	3	2	2	2	5	3	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.648G>T	p.Trp216Cys	p.W216C	ENST00000171757	4/4	108	84	24	103	103	0	strelka-varscan-mutect	P2RY10,missense_variant,p.Trp216Cys,ENST00000171757,NM_014499.2;P2RY10,missense_variant,p.Trp216Cys,ENST00000544091,NM_198333.1;P2RY10,downstream_gene_variant,,ENST00000475374,;P2RY10,downstream_gene_variant,,ENST00000461541,;	T	ENST00000171757	Transcript	missense_variant	928/1714	648/1020	216/339	W/C	tgG/tgT		1		1	P2RY10	HGNC	HGNC:19906	protein_coding	YES	CCDS14442.1	ENSP00000171757	O00398		UPI0000050471	NM_014499.2	tolerated(0.16)		4/4		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24232:SF47,hmmpanther:PTHR24232,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	83	78961168	78961168	G	T	1	0	0	0	0	1	0	0	0	11420	1270	44	2		2	P2RY10	23	78961168	Missense_Mutation	SNP	G	C3N-01823_TP	26145959	78961168	77079727	505	27848											
BRWD3	0	.	GRCh38	chrX	80724975	80724975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggtcccccggtcaaggtcCcaaataaaaatgttcccatc	11	10	7	13	1	1	0	1	0	0	0	5	0	4	0	4	3	0	1	4	3	5	3	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1479G>T	p.Trp493Cys	p.W493C	ENST00000373275	15/41	211	170	41	185	184	1	strelka-varscan-mutect	BRWD3,missense_variant,p.Trp493Cys,ENST00000373275,NM_153252.4;BRWD3,upstream_gene_variant,,ENST00000473691,;	A	ENST00000373275	Transcript	missense_variant	1696/11381	1479/5409	493/1802	W/C	tgG/tgT		1		-1	BRWD3	HGNC	HGNC:17342	protein_coding	YES	CCDS14447.1	ENSP00000362372	Q6RI45		UPI000045785B	NM_153252.4	deleterious(0.02)		15/41		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR16266:SF25,hmmpanther:PTHR16266,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	83	80724975	80724975	C	A	1	0	0	0	0	1	0	0	0	1700	624	22	2		2	BRWD3	23	80724975	Missense_Mutation	SNP	C	C3N-01823_TP	1763807	80724975	75315920	506	27849											
PCDH11X	0	.	GRCh38	chrX	92618548	92618548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccaccgatacaggtgtctGctctccaccacagtcctcct	8	9	6	18	1	2	0	0	0	2	0	5	1	4	0	6	1	2	1	6	1	1	1	novel		C3N-01823_TP	C3N-01823_NB	G	G																c.3652G>T	p.Ala1218Ser	p.A1218S	ENST00000373094	7/7	428	323	105	306	306	0	strelka-varscan-mutect	PCDH11X,missense_variant,p.Ala1218Ser,ENST00000373094,NM_032968.4;PCDH11X,missense_variant,p.Ala1208Ser,ENST00000373097,NM_032969.4;PCDH11X,missense_variant,p.Ala1210Ser,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Ala1200Ser,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Ala1181Ser,ENST00000373088,NM_001168362.1;PCDH11X,3_prime_UTR_variant,,ENST00000504220,NM_001168361.1;	T	ENST00000373094	Transcript	missense_variant	4497/9179	3652/4044	1218/1347	A/S	Gct/Tct		1		1	PCDH11X	HGNC	HGNC:8656	protein_coding	YES	CCDS14461.1	ENSP00000362186	Q9BZA7		UPI0000070BD8	NM_032968.4	tolerated_low_confidence(0.45)		7/7																			MODERATE	1	SNV	1			1										PASS		rs1462233761	.												T	3	4	83	92618548	92618548	G	T	1	0	0	0	0	1	0	0	0	11595	1319	46	2		2	PCDH11X	23	92618548	Missense_Mutation	SNP	G	C3N-01823_TP	11893573	92618548	63422347	507	27850											
TEX13C	0	.	GRCh38	chrX	125321230	125321230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaaggagatggtccccCtaggggacagcaacagccac	11	4	12	14	0	0	1	0	0	0	1	1	3	1	2	4	4	4	1	4	4	3	1	novel		C3N-01823_TP	C3N-01823_NB	C	C																c.1111C>A	p.Leu371Ile	p.L371I	ENST00000632600	1/1	295	242	53	182	182	0	strelka-varscan-mutect	TEX13C,missense_variant,p.Leu371Ile,ENST00000632600,NM_001195272.1;	A	ENST00000632600	Transcript	missense_variant	1111/5095	1111/2982	371/993	L/I	Cta/Ata		1		1	TEX13C	HGNC	HGNC:52277	protein_coding	YES		ENSP00000488022	A0A0J9YWL9		UPI000016014C	NM_001195272.1	tolerated(0.22)		1/1																			MODERATE	1	SNV				1										PASS		.	.												A	3	1	83	125321230	125321230	C	A	1	0	0	0	0	1	0	0	0	16199	680	24	2		2	TEX13C	23	125321230	Missense_Mutation	SNP	C	C3N-01823_TP	32702682	125321230	30719665	508	27851											
CCDC160	0	.	GRCh38	chrX	134244998	134244998	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatttaagaggaaaaaataTattttccaactaaatgaaat	22	12	4	3	0	0	2	0	1	0	1	1	3	1	3	1	1	1	0	1	1	11	7	rs367640741		C3N-01823_TP	C3N-01823_NB	T	T																c.198T>C	p.=	p.Y66Y	ENST00000517294	3/3	91	75	16	72	72	0	strelka-varscan-mutect	CCDC160,synonymous_variant,p.=,ENST00000517294,;CCDC160,synonymous_variant,p.=,ENST00000370809,NM_001101357.1;	C	ENST00000517294	Transcript	synonymous_variant	581/1790	198/978	66/325	Y	taT/taC	rs367640741,COSM2726706	1		1	CCDC160	HGNC	HGNC:37286	protein_coding	YES	CCDS48171.1	ENSP00000427951	A6NGH7		UPI00001993FD				3/3		hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF71											0,1						LOW	1	SNV	5		0,1	1										PASS		rs367640741	.												C	2	2	83	134244998	134244998	T	C	1	0	0	0	0	0	0	0	1	2480	1413	49	5		5	CCDC160	23	134244998	Silent	SNP	T	C3N-01823_TP	8923768	134244998	21795897	509	27852											
INTS6L	0	.	GRCh38	chrX	135580000	135580000	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagtaacgcatttgtaggaGgagccaaaaactgcagtctc	13	9	11	8	1	1	0	0	0	1	0	2	2	1	2	1	2	4	5	1	2	5	4			C3N-01823_TP	C3N-01823_NB	G	G																c.2221G>C	p.Gly741Arg	p.G741R	ENST00000370752	15/17	89	72	17	78	78	0	strelka-varscan-mutect	INTS6L,missense_variant,p.Gly741Arg,ENST00000370752,NM_182540.4;INTS6L,non_coding_transcript_exon_variant,,ENST00000481908,;INTS6L,non_coding_transcript_exon_variant,,ENST00000481429,;INTS6L,non_coding_transcript_exon_variant,,ENST00000494957,;INTS6L,non_coding_transcript_exon_variant,,ENST00000493637,;RP11-432N13.2,downstream_gene_variant,,ENST00000439300,;	C	ENST00000370752	Transcript	missense_variant	2555/3793	2221/2586	741/861	G/R	Gga/Cga	COSM1465778	1		1	INTS6L	HGNC	HGNC:27334	protein_coding	YES	CCDS35401.1	ENSP00000359788	Q5JSJ4		UPI00004A3AAF	NM_182540.4	tolerated(0.11)		15/17		hmmpanther:PTHR12957,hmmpanther:PTHR12957:SF22											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	83	135580000	135580000	G	C	1	0	0	0	0	1	0	0	0	7685	1001	35	4		4	INTS6L	23	135580000	Missense_Mutation	SNP	G	C3N-01823_TP	1335002	135580000	20460895	510	27853											
F9	0	.	GRCh38	chrX	139551090	139551090	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatgtggaagagtttctgtTtcacaaacttctaagctcac	11	13	7	10	0	4	1	2	0	2	1	4	2	4	2	1	1	2	3	1	1	3	4	novel		C3N-01823_TP	C3N-01823_NB	T	T																c.549T>A	p.=	p.V183V	ENST00000218099	6/8	179	147	32	106	106	0	strelka-varscan-mutect	F9,synonymous_variant,p.=,ENST00000218099,NM_000133.3;F9,synonymous_variant,p.=,ENST00000394090,;F9,downstream_gene_variant,,ENST00000479617,;	A	ENST00000218099	Transcript	synonymous_variant	556/2780	549/1386	183/461	V	gtT/gtA		1		1	F9	HGNC	HGNC:3551	protein_coding	YES	CCDS14666.1	ENSP00000218099	P00740		UPI000002BA13	NM_000133.3			6/8		Gene3D:2.10.25.10,PIRSF_domain:PIRSF001143,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF135																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	83	139551090	139551090	T	A	1	0	0	0	0	0	0	0	1	5220	1828	64	4		4	F9	23	139551090	Silent	SNP	T	C3N-01823_TP	3971090	139551090	16489805	511	27854											
AGRN	0	.	GRCh38	chr1	1050300	1050300	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccacctggagctgagAggcctgcacacctttgcacg	7	9	10	15	1	1	1	0	1	1	1	2	3	1	2	4	2	3	3	4	2	0	2	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.4947A>T	p.Arg1649Ser	p.R1649S	ENST00000379370	28/36	371	292	79	341	340	1	strelka-varscan-mutect	AGRN,missense_variant,p.Arg1511Ser,ENST00000620552,NM_001305275.1;AGRN,missense_variant,p.Arg1649Ser,ENST00000379370,NM_198576.3;AGRN,upstream_gene_variant,,ENST00000419249,;RP11-54O7.14,upstream_gene_variant,,ENST00000418300,;AGRN,upstream_gene_variant,,ENST00000461111,;AGRN,downstream_gene_variant,,ENST00000492947,;AGRN,downstream_gene_variant,,ENST00000479707,;AGRN,downstream_gene_variant,,ENST00000466223,;AGRN,downstream_gene_variant,,ENST00000478677,;	T	ENST00000379370	Transcript	missense_variant	4997/7323	4947/6138	1649/2045	R/S	agA/agT		1		1	AGRN	HGNC	HGNC:329	protein_coding	YES	CCDS30551.1	ENSP00000368678	O00468		UPI00001D7C8B	NM_198576.3	tolerated(0.14)		28/36		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF288,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	1050300	1050300	A	T	1	0	0	0	0	1	0	0	0	476	301	11	4		4	AGRN	1	1050300	Missense_Mutation	SNP	A	C3N-01842_TP		1050300	247906122	1	27855											
ESPN	0	.	GRCh38	chr1	6445681	6445681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggctttccagcgctagaGctgcagacatacagagctac	11	7	11	12	1	0	3	0	0	0	3	1	3	1	3	1	1	6	5	1	1	3	4	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1210G>T	p.Ala404Ser	p.A404S	ENST00000377828	7/13	442	356	86	437	436	1	strelka-varscan-mutect	ESPN,missense_variant,p.Ala404Ser,ENST00000636330,;ESPN,missense_variant,p.Ala404Ser,ENST00000377828,NM_031475.2;ESPN,missense_variant,p.Ala189Ser,ENST00000418286,;ESPN,upstream_gene_variant,,ENST00000461727,;ESPN,upstream_gene_variant,,ENST00000633239,;ESPN,upstream_gene_variant,,ENST00000416731,;ESPN,upstream_gene_variant,,ENST00000475228,;ESPN,upstream_gene_variant,,ENST00000632803,;ESPN,upstream_gene_variant,,ENST00000478323,;RP1-202O8.2,splice_region_variant,,ENST00000419034,;ESPN,downstream_gene_variant,,ENST00000633651,;ESPN,downstream_gene_variant,,ENST00000632142,;ESPN,upstream_gene_variant,,ENST00000475479,;ESPN,upstream_gene_variant,,ENST00000632593,;	T	ENST00000377828	Transcript	missense_variant	1378/3531	1210/2565	404/854	A/S	Gct/Tct		1		1	ESPN	HGNC	HGNC:13281	protein_coding	YES	CCDS70.1	ENSP00000367059	B1AK53		UPI000013D2B6	NM_031475.2	tolerated(0.1)		7/13		hmmpanther:PTHR24153:SF14,hmmpanther:PTHR24153																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	6445681	6445681	G	T	1	0	0	0	0	1	0	0	0	5116	971	34	2		2	ESPN	1	6445681	Missense_Mutation	SNP	G	C3N-01842_TP	5395381	6445681	242510741	2	27856											
FBXO44	0	.	GRCh38	chr1	11658552	11658552	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacctgcctcaagtcccagGtggtggacctcaaggccgaa	9	6	12	14	1	2	0	2	0	0	0	3	2	3	1	5	4	1	1	5	4	3	0	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.412G>T	p.Val138Leu	p.V138L	ENST00000376770	5/7	173	133	40	204	204	0	strelka-varscan-mutect	FBXO44,missense_variant,p.Val138Leu,ENST00000376770,NM_001014765.1;FBXO44,missense_variant,p.Val138Leu,ENST00000251547,NM_001304791.1,NM_033182.5;FBXO44,missense_variant,p.Gly128Val,ENST00000376768,;FBXO44,missense_variant,p.Gly4Val,ENST00000471895,;FBXO44,intron_variant,,ENST00000251546,NM_183412.2;FBXO44,intron_variant,,ENST00000376762,NM_183413.2;FBXO44,intron_variant,,ENST00000425796,;FBXO44,intron_variant,,ENST00000475435,;FBXO44,intron_variant,,ENST00000376760,NM_001304790.1;FBXO2,upstream_gene_variant,,ENST00000354287,NM_012168.5;FBXO2,upstream_gene_variant,,ENST00000465901,;FBXO2,upstream_gene_variant,,ENST00000466919,;	T	ENST00000376770	Transcript	missense_variant	910/3320	412/768	138/255	V/L	Gtg/Ttg		1		1	FBXO44	HGNC	HGNC:24847	protein_coding	YES	CCDS132.1	ENSP00000365961	Q9H4M3	A0A024R4F9	UPI000013CD04	NM_001014765.1	tolerated(1)		5/7		PROSITE_profiles:PS51114,hmmpanther:PTHR12125:SF12,hmmpanther:PTHR12125,Gene3D:2.60.120.260,Pfam_domain:PF04300,SMART_domains:SM01198,Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	11658552	11658552	G	T	1	0	0	0	0	1	0	0	0	5616	1261	44	2		2	FBXO44	1	11658552	Missense_Mutation	SNP	G	C3N-01842_TP	5212871	11658552	237297870	3	27857											
C1orf167	0	.	GRCh38	chr1	11782242	11782242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtgcaggtccacctccagGgcctgcagaaggtggtgttc	6	8	16	11	0	0	1	0	0	0	1	3	1	2	1	4	5	2	3	4	5	1	1			C3N-01842_TP	C3N-01842_NB	G	G																c.2986G>A	p.Gly996Ser	p.G996S	ENST00000433342	14/21	117	94	23	135	135	0	strelka-varscan-mutect	C1orf167,missense_variant,p.Gly996Ser,ENST00000433342,NM_001010881.1;C1orf167,missense_variant,p.Gly356Ser,ENST00000312793,;C1orf167,missense_variant,p.Gly139Ser,ENST00000444493,;C1orf167,missense_variant,p.Gly82Ser,ENST00000449278,;MTHFR,downstream_gene_variant,,ENST00000376592,;MTHFR,downstream_gene_variant,,ENST00000376583,;MTHFR,downstream_gene_variant,,ENST00000376590,NM_005957.4;RP11-56N19.5,upstream_gene_variant,,ENST00000376620,;C1orf167,downstream_gene_variant,,ENST00000484153,;C1orf167,upstream_gene_variant,,ENST00000475041,;	A	ENST00000433342	Transcript	missense_variant	2986/4545	2986/4407	996/1468	G/S	Ggc/Agc	COSM5164971,COSM5164972	1		1	C1orf167	HGNC	HGNC:25262	protein_coding	YES		ENSP00000414909	Q5SNV9		UPI0000DD7886	NM_001010881.1	deleterious(0.03)		14/21		hmmpanther:PTHR38493,hmmpanther:PTHR38493:SF1,Pfam_domain:PF15736											1,1						MODERATE		SNV	5		1,1	1										PASS		.	.												A	3	1	84	11782242	11782242	G	A	1	0	0	0	0	1	0	0	0	1972	1232	43	3		3	C1orf167	1	11782242	Missense_Mutation	SNP	G	C3N-01842_TP	123690	11782242	237174180	4	27858											
PRAMEF19	0	.	GRCh38	chr1	13371641	13371641	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccttttgggcaagcaggCaatcaatcccatccactaca	13	8	7	13	0	1	0	1	0	0	0	3	1	3	0	3	2	3	3	3	2	5	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.53G>T	p.Cys18Phe	p.C18F	ENST00000376101	1/3	193	163	30	257	257	0	varscan-mutect	PRAMEF19,missense_variant,p.Cys18Phe,ENST00000376101,;	A	ENST00000376101	Transcript	missense_variant	53/1233	53/1233	18/410	C/F	tGc/tTc		1		-1	PRAMEF19	HGNC	HGNC:24908	protein_coding	YES		ENSP00000365269	Q5SWL8		UPI0001661E5E		deleterious(0.02)		1/3		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF5,PIRSF_domain:PIRSF038286																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	84	13371641	13371641	C	A	1	0	0	0	0	1	0	0	0	12561	710	25	2		2	PRAMEF19	1	13371641	Missense_Mutation	SNP	C	C3N-01842_TP	1589399	13371641	235584781	5	27859											
PRDM2	0	.	GRCh38	chr1	13781439	13781439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagcgagatctccaccCagataaggtgtgcacacatc	12	6	9	14	1	1	2	0	0	1	2	3	3	1	2	3	1	2	2	3	1	1	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.3644C>A	p.Pro1215Gln	p.P1215Q	ENST00000235372	8/10	262	232	30	283	283	0	strelka-varscan-mutect	PRDM2,missense_variant,p.Pro1215Gln,ENST00000235372,NM_012231.4;PRDM2,missense_variant,p.Pro1215Gln,ENST00000311066,NM_015866.4;PRDM2,missense_variant,p.Pro1014Gln,ENST00000413440,NM_001007257.2;PRDM2,missense_variant,p.Pro1014Gln,ENST00000343137,;PRDM2,intron_variant,,ENST00000376048,NM_001135610.1;PRDM2,intron_variant,,ENST00000503842,;PRDM2,intron_variant,,ENST00000505823,;PRDM2,downstream_gene_variant,,ENST00000487453,;PRDM2,downstream_gene_variant,,ENST00000407521,;PRDM2,intron_variant,,ENST00000491134,;	A	ENST00000235372	Transcript	missense_variant	4500/7957	3644/5157	1215/1718	P/Q	cCa/cAa		1		1	PRDM2	HGNC	HGNC:9347	protein_coding	YES	CCDS150.1	ENSP00000235372	Q13029		UPI000013C9CD	NM_012231.4	deleterious(0)		8/10		hmmpanther:PTHR24402:SF4,hmmpanther:PTHR24402,PIRSF_domain:PIRSF002395																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	13781439	13781439	C	A	1	0	0	0	0	1	0	0	0	12589	594	21	2		2	PRDM2	1	13781439	Missense_Mutation	SNP	C	C3N-01842_TP	409798	13781439	235174983	6	27860											
PADI2	0	.	GRCh38	chr1	17093652	17093652	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagttcaccagcaggatggcCccctggccctcggggcccca	6	5	12	18	1	1	0	1	0	0	0	2	1	1	1	6	5	1	2	6	5	0	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.444G>T	p.=	p.G148G	ENST00000375486	5/16	189	149	40	226	225	1	strelka-varscan-mutect	PADI2,synonymous_variant,p.=,ENST00000375486,NM_007365.2;PADI2,synonymous_variant,p.=,ENST00000375481,;	A	ENST00000375486	Transcript	synonymous_variant	508/4345	444/1998	148/665	G	ggG/ggT		1		-1	PADI2	HGNC	HGNC:18341	protein_coding	YES	CCDS177.1	ENSP00000364635	Q9Y2J8	A0A024RA98	UPI00001314AF	NM_007365.2			5/16		Superfamily_domains:0044952,PD936484,Pfam_domain:PF08527,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF12																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	17093652	17093652	C	A	1	0	0	0	0	0	0	0	1	11456	610	22	2		2	PADI2	1	17093652	Silent	SNP	C	C3N-01842_TP	3312213	17093652	231862770	7	27861											
RNF186	0	.	GRCh38	chr1	19814636	19814636	+	Missense_Mutation	SNP	C	C	A																															cagcaggagtaggtgcgcggCcaggcgccgggctgccacgt																								novel		C3N-01842_TP	C3N-01842_NB	C	C																c.466G>T	p.Ala156Ser	p.A156S	ENST00000375121	1/1	290	227	63	375	374	1	strelka-varscan-mutect	RNF186,missense_variant,p.Ala156Ser,ENST00000375121,NM_019062.1;RP11-91K11.2,intron_variant,,ENST00000454736,;	A	ENST00000375121	Transcript	missense_variant	643/1250	466/684	156/227	A/S	Gcc/Tcc		1		-1	RNF186	HGNC	HGNC:25978	protein_coding	YES	CCDS199.1	ENSP00000364263	Q9NXI6		UPI0000073BA5	NM_019062.1	deleterious(0.01)		1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR16450																	MODERATE		SNV				1										PASS		rs1173070601	.												A	3	1	84	19814636	19814636	C	A	1	0	0	0	0	1	0	0	0	13646	739	26	2		2	RNF186	1	19814636	Missense_Mutation	SNP	C	C3N-01842_TP	2720984	19814636	229141786	8	27862	584	2									
RNF186	0	.	GRCh38	chr1	19814637	19814637	+	Silent	SNP	C	C	A																															agcaggagtaggtgcgcggcCaggcgccgggctgccacgtg																								novel		C3N-01842_TP	C3N-01842_NB	C	C																c.465G>T	p.=	p.L155L	ENST00000375121	1/1	295	228	67	379	379	0	strelka-varscan-mutect	RNF186,synonymous_variant,p.=,ENST00000375121,NM_019062.1;RP11-91K11.2,intron_variant,,ENST00000454736,;	A	ENST00000375121	Transcript	synonymous_variant	642/1250	465/684	155/227	L	ctG/ctT		1		-1	RNF186	HGNC	HGNC:25978	protein_coding	YES	CCDS199.1	ENSP00000364263	Q9NXI6		UPI0000073BA5	NM_019062.1			1/1		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR16450																	LOW		SNV				1										PASS		.	.												A	2	1	84	19814637	19814637	C	A	1	0	0	0	0	0	0	0	1	13646	581	21	2		2	RNF186	1	19814637	Silent	SNP	C	C3N-01842_TP	1	19814637	229141785	9	27863	584	2									
FGR	0	.	GRCh38	chr1	27623885	27623885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccttggccgtggccaccGgctccaatttcttgcagaac	6	10	9	16	2	1	1	0	0	1	1	3	1	3	1	6	3	2	2	6	3	2	3	rs752716889		C3N-01842_TP	C3N-01842_NB	G	G																c.32C>A	p.Pro11Gln	p.P11Q	ENST00000374005	3/13	133	99	34	144	142	2	strelka-varscan-mutect	FGR,missense_variant,p.Pro11Gln,ENST00000374005,NM_005248.2;FGR,missense_variant,p.Pro11Gln,ENST00000399173,NM_001042747.1;FGR,missense_variant,p.Pro11Gln,ENST00000374004,;FGR,missense_variant,p.Pro11Gln,ENST00000374003,NM_001042729.1;FGR,missense_variant,p.Pro11Gln,ENST00000457296,;FGR,non_coding_transcript_exon_variant,,ENST00000468038,;FGR,non_coding_transcript_exon_variant,,ENST00000475472,;	T	ENST00000374005	Transcript	missense_variant	321/2729	32/1590	11/529	P/Q	cCg/cAg	rs752716889	1		-1	FGR	HGNC	HGNC:3697	protein_coding	YES	CCDS305.1	ENSP00000363117	P09769		UPI000012A72F	NM_005248.2	tolerated_low_confidence(0.07)		3/13		hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF224																	MODERATE	1	SNV	1			1										PASS		rs752716889	.												T	3	4	84	27623885	27623885	G	T	1	0	0	0	0	1	0	0	0	5738	1116	39	1		1	FGR	1	27623885	Missense_Mutation	SNP	G	C3N-01842_TP	7809248	27623885	221332537	10	27864											
LCK	0	.	GRCh38	chr1	32285635	32285635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaaggagcgcccagaggaCcggcccacctttgactacct	9	6	12	14	2	0	2	0	1	0	1	0	5	0	5	5	4	2	0	5	4	2	2	rs542519367		C3N-01842_TP	C3N-01842_NB	C	C																c.1449C>A	p.Asp483Glu	p.D483E	ENST00000336890	13/13	508	395	113	650	650	0	strelka-varscan-mutect	LCK,missense_variant,p.Asp513Glu,ENST00000333070,;LCK,missense_variant,p.Asp490Glu,ENST00000373564,;LCK,missense_variant,p.Asp483Glu,ENST00000336890,NM_005356.4;LCK,missense_variant,p.Asp483Glu,ENST00000619559,NM_001042771.2;Y_RNA,downstream_gene_variant,,ENST00000516641,;LCK,non_coding_transcript_exon_variant,,ENST00000469765,;	A	ENST00000336890	Transcript	missense_variant	1587/2117	1449/1530	483/509	D/E	gaC/gaA	rs542519367	1		1	LCK	HGNC	HGNC:6524	protein_coding	YES	CCDS359.1	ENSP00000337825	P06239	A0A0S2Z3Y8	UPI0000151F17	NM_005356.4	tolerated(1)		13/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF39,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109																	MODERATE	1	SNV	1			1										PASS		rs542519367	.												A	3	1	84	32285635	32285635	C	A	1	0	0	0	0	1	0	0	0	8582	506	18	2		2	LCK	1	32285635	Missense_Mutation	SNP	C	C3N-01842_TP	4661750	32285635	216670787	11	27865											
FOXJ3	0	.	GRCh38	chr1	42278504	42278504	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcccatctttgtgctgttgGacttcttcctggtccagagt	4	17	9	11	0	2	1	0	0	2	1	5	2	5	2	3	2	1	2	3	2	0	5	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.213C>A	p.=	p.V71V	ENST00000372572	5/15	484	372	112	489	489	0	strelka-varscan-mutect	FOXJ3,synonymous_variant,p.=,ENST00000372572,NM_001198851.1;FOXJ3,synonymous_variant,p.=,ENST00000372573,NM_001198850.1;FOXJ3,synonymous_variant,p.=,ENST00000361346,NM_014947.4;FOXJ3,synonymous_variant,p.=,ENST00000545068,;FOXJ3,synonymous_variant,p.=,ENST00000361776,NM_001198852.1;FOXJ3,synonymous_variant,p.=,ENST00000445886,;FOXJ3,synonymous_variant,p.=,ENST00000454417,;	T	ENST00000372572	Transcript	synonymous_variant	525/5352	213/1869	71/622	V	gtC/gtA		1		-1	FOXJ3	HGNC	HGNC:29178	protein_coding	YES	CCDS30689.1	ENSP00000361653	Q9UPW0		UPI000013D359	NM_001198851.1			5/15		hmmpanther:PTHR11829:SF104,hmmpanther:PTHR11829,Gene3D:1.10.10.10																	LOW	1	SNV	1			1										PASS		rs1248255217	.												T	2	4	84	42278504	42278504	G	T	1	0	0	0	0	0	0	0	1	5876	1161	41	2		2	FOXJ3	1	42278504	Silent	SNP	G	C3N-01842_TP	9992869	42278504	206677918	12	27866											
PATJ	0	.	GRCh38	chr1	62128851	62128851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacttccaggttggagatcGgattgtcagcattaacgggc	9	11	13	8	2	1	1	1	0	0	1	3	3	2	2	1	4	3	3	1	4	2	5	rs747934422		C3N-01842_TP	C3N-01842_NB	G	G																c.5177G>T	p.Arg1726Leu	p.R1726L	ENST00000371158	41/43	184	151	33	180	180	0	strelka-varscan-mutect	PATJ,missense_variant,p.Arg1726Leu,ENST00000371158,NM_176877.2;PATJ,missense_variant,p.Arg510Leu,ENST00000635137,;PATJ,intron_variant,,ENST00000613764,;PATJ,3_prime_UTR_variant,,ENST00000484937,;PATJ,downstream_gene_variant,,ENST00000472512,;	T	ENST00000371158	Transcript	missense_variant	5291/8505	5177/5406	1726/1801	R/L	cGg/cTg	rs747934422	1		1	PATJ	HGNC	HGNC:28881	protein_coding	YES	CCDS617.2	ENSP00000360200	Q8NI35		UPI0000204487	NM_176877.2	deleterious(0)		41/43		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	5			1										PASS		rs747934422	.												T	3	4	84	62128851	62128851	G	T	1	0	0	0	0	1	0	0	0	11558	1116	39	1		1	PATJ	1	62128851	Missense_Mutation	SNP	G	C3N-01842_TP	19850347	62128851	186827571	13	27867											
LHX8	0	.	GRCh38	chr1	75143169	75143169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacacatccattctactgaCtgggtccggagagccaaggg	11	7	12	11	1	1	3	0	1	1	2	3	4	3	3	3	3	2	0	3	3	2	2	rs12084309		C3N-01842_TP	C3N-01842_NB	C	C																c.441C>A	p.Asp147Glu	p.D147E	ENST00000294638	6/10	348	277	71	344	343	1	strelka-varscan-mutect	LHX8,missense_variant,p.Asp147Glu,ENST00000294638,NM_001001933.1;LHX8,missense_variant,p.Asp137Glu,ENST00000356261,NM_001256114.1;	A	ENST00000294638	Transcript	missense_variant	1105/2373	441/1071	147/356	D/E	gaC/gaA	rs12084309	1		1	LHX8	HGNC	HGNC:28838	protein_coding	YES	CCDS30756.1	ENSP00000294638	Q68G74		UPI00001972E8	NM_001001933.1	deleterious(0)		6/10		Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_patterns:PS00478,PROSITE_profiles:PS50023,hmmpanther:PTHR24208,SMART_domains:SM00132,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		rs12084309	.												A	3	1	84	75143169	75143169	C	A	1	0	0	0	0	1	0	0	0	8685	564	20	2		2	LHX8	1	75143169	Missense_Mutation	SNP	C	C3N-01842_TP	13014318	75143169	173813253	14	27868											
ST6GALNAC3	0	.	GRCh38	chr1	76412171	76412171	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cggccgcatgaccatgattcGagttgtgtcccataccagcg	8	9	11	13	4	0	2	0	2	0	0	2	3	1	2	4	1	2	2	4	1	1	3	rs746896290		C3N-01842_TP	C3N-01842_NB	G	G																c.377G>C	p.Arg126Pro	p.R126P	ENST00000328299	3/5	364	287	77	416	416	0	strelka-varscan-mutect	ST6GALNAC3,missense_variant,p.Arg126Pro,ENST00000328299,NM_152996.2;ST6GALNAC3,missense_variant,p.Arg55Pro,ENST00000621530,;ST6GALNAC3,non_coding_transcript_exon_variant,,ENST00000464140,;	C	ENST00000328299	Transcript	missense_variant	525/6861	377/918	126/305	R/P	cGa/cCa	rs746896290	1		1	ST6GALNAC3	HGNC	HGNC:19343	protein_coding	YES	CCDS672.1	ENSP00000329214	Q8NDV1		UPI000006F75A	NM_152996.2			3/5		Pfam_domain:PF00777,hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF49																	MODERATE	1	SNV	1			1										PASS		rs746896290	.												C	3	2	84	76412171	76412171	G	C	1	0	0	0	0	1	0	0	0	15603	1058	37	4		4	ST6GALNAC3	1	76412171	Missense_Mutation	SNP	G	C3N-01842_TP	1269002	76412171	172544251	15	27869											
PIGK	0	.	GRCh38	chr1	77219376	77219376	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgccaagacagtcgcagcCcggctgaggctgtcggtgac	7	7	15	12	3	0	3	0	2	0	1	2	3	0	3	2	3	2	4	2	3	1	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.27G>T	p.=	p.R9R	ENST00000370812	1/11	357	283	74	406	405	1	strelka-varscan-mutect	PIGK,synonymous_variant,p.=,ENST00000370812,NM_005482.2;PIGK,synonymous_variant,p.=,ENST00000445065,;PIGK,synonymous_variant,p.=,ENST00000359130,;PIGK,non_coding_transcript_exon_variant,,ENST00000478391,;	A	ENST00000370812	Transcript	synonymous_variant	51/4596	27/1188	9/395	R	cgG/cgT		1		-1	PIGK	HGNC	HGNC:8965	protein_coding	YES	CCDS674.1	ENSP00000359848	Q92643		UPI000012B9D1	NM_005482.2			1/11		PIRSF_domain:PIRSF019663,PIRSF_domain:PIRSF500138,hmmpanther:PTHR12000,hmmpanther:PTHR12000:SF1,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	77219376	77219376	C	A	1	0	0	0	0	0	0	0	1	11984	610	22	2		2	PIGK	1	77219376	Silent	SNP	C	C3N-01842_TP	807205	77219376	171737046	16	27870											
ZZZ3	0	.	GRCh38	chr1	77581808	77581808	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgagccttctggaccatCactcaaaggcaacatagaat	13	9	8	11	0	3	2	2	1	1	1	3	3	3	3	2	2	2	2	2	2	4	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1876G>T	p.Asp626Tyr	p.D626Y	ENST00000370801	8/15	226	168	58	226	226	0	strelka-varscan-mutect	ZZZ3,missense_variant,p.Asp626Tyr,ENST00000370801,NM_015534.4;ZZZ3,missense_variant,p.Asp132Tyr,ENST00000370798,NM_001308237.1;ZZZ3,non_coding_transcript_exon_variant,,ENST00000476275,;ZZZ3,non_coding_transcript_exon_variant,,ENST00000481346,;ZZZ3,non_coding_transcript_exon_variant,,ENST00000476195,;ZZZ3,downstream_gene_variant,,ENST00000474746,;	A	ENST00000370801	Transcript	missense_variant	2352/4328	1876/2712	626/903	D/Y	Gat/Tat		1		-1	ZZZ3	HGNC	HGNC:24523	protein_coding	YES	CCDS677.1	ENSP00000359837	Q8IYH5		UPI0000074256	NM_015534.4	deleterious(0)		8/15		hmmpanther:PTHR22705																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	77581808	77581808	C	A	1	0	0	0	0	1	0	0	0	18860	826	29	2		2	ZZZ3	1	77581808	Missense_Mutation	SNP	C	C3N-01842_TP	362432	77581808	171374614	17	27871											
COL24A1	0	.	GRCh38	chr1	85786439	85786439	+	Frame_Shift_Del	DEL	C	C	-																															gagccccagcaagacctgttCttcctgggccgcctctgatg																								novel		C3N-01842_TP	C3N-01842_NB	C	C																c.3974delG	p.Arg1325LysfsTer13	p.R1325Kfs*13	ENST00000370571	48/60	131	102	29	215	215	0	sindel-varindel	COL24A1,frameshift_variant,p.Arg1325LysfsTer13,ENST00000370571,NM_152890.5;COL24A1,3_prime_UTR_variant,,ENST00000426639,;	-	ENST00000370571	Transcript	frameshift_variant	4341/6825	3974/5145	1325/1714	R/X	aGa/aa		1		-1	COL24A1	HGNC	HGNC:20821	protein_coding	YES	CCDS41353.1	ENSP00000359603	Q17RW2		UPI000013E81F	NM_152890.5			48/60		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF590																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	84	85786439	85786439	C	-	1	0	1	0	1	0	0	0	0	3471	913	32	0		0	COL24A1	1	85786439	Frame_Shift_Del	DEL	C	C3N-01842_TP	8204631	85786439	163169983	18	27872	585	2									
COL24A1	0	.	GRCh38	chr1	85786440	85786440	+	Nonsense_Mutation	SNP	T	T	A																															agccccagcaagacctgttcTtcctgggccgcctctgatgc																								novel		C3N-01842_TP	C3N-01842_NB	T	T																c.3973A>T	p.Arg1325Ter	p.R1325*	ENST00000370571	48/60	147	112	35	213	213	0	strelka-mutect	COL24A1,stop_gained,p.Arg1325Ter,ENST00000370571,NM_152890.5;COL24A1,3_prime_UTR_variant,,ENST00000426639,;	A	ENST00000370571	Transcript	stop_gained	4340/6825	3973/5145	1325/1714	R/*	Aga/Tga		1		-1	COL24A1	HGNC	HGNC:20821	protein_coding	YES	CCDS41353.1	ENSP00000359603	Q17RW2		UPI000013E81F	NM_152890.5			48/60		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF590																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	84	85786440	85786440	T	A	1	0	0	0	0	0	1	0	0	3471	1617	56	4		4	COL24A1	1	85786440	Nonsense_Mutation	SNP	T	C3N-01842_TP	1	85786440	163169982	19	27873	585	2									
GBP1	0	.	GRCh38	chr1	89055155	89055155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagagtctggtctgtctGgagaattgcatcagtcatag	9	13	13	6	0	5	2	2	1	3	2	5	4	5	2	0	2	1	1	0	2	2	2	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1429C>A	p.Gln477Lys	p.Q477K	ENST00000370473	9/11	170	124	46	143	142	1	strelka-varscan-mutect	GBP1,missense_variant,p.Gln477Lys,ENST00000370473,NM_002053.2;GBP1,non_coding_transcript_exon_variant,,ENST00000484970,;GBP1,non_coding_transcript_exon_variant,,ENST00000468959,;GBP1,non_coding_transcript_exon_variant,,ENST00000479889,;GBP1,downstream_gene_variant,,ENST00000495131,;GBP1,downstream_gene_variant,,ENST00000459831,;GBP1,downstream_gene_variant,,ENST00000493139,;	T	ENST00000370473	Transcript	missense_variant	1649/3035	1429/1779	477/592	Q/K	Cag/Aag		1		-1	GBP1	HGNC	HGNC:4182	protein_coding	YES	CCDS718.1	ENSP00000359504	P32455		UPI000013C9DF	NM_002053.2	tolerated(0.1)		9/11		hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF21,Pfam_domain:PF02841,Gene3D:1f5nA01,Superfamily_domains:0037397																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	89055155	89055155	G	T	1	0	0	0	0	1	0	0	0	6144	1357	47	2		2	GBP1	1	89055155	Missense_Mutation	SNP	G	C3N-01842_TP	3268715	89055155	159901267	20	27874											
BARHL2	0	.	GRCh38	chr1	90717133	90717133	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcatgcctgggctgcctgaActggcactggacaaaatcgt	10	9	11	11	1	1	1	1	1	0	0	2	2	1	2	2	3	3	2	2	3	3	0	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.63T>A	p.Ser21Arg	p.S21R	ENST00000370445	1/3	529	427	102	685	684	1	strelka-varscan-mutect	BARHL2,missense_variant,p.Ser21Arg,ENST00000370445,NM_020063.1;	T	ENST00000370445	Transcript	missense_variant	105/1979	63/1164	21/387	S/R	agT/agA		1		-1	BARHL2	HGNC	HGNC:954	protein_coding	YES	CCDS730.1	ENSP00000359474	Q9NY43		UPI00001B50ED	NM_020063.1	tolerated_low_confidence(0.83)		1/3		hmmpanther:PTHR24330:SF4,hmmpanther:PTHR24330																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	90717133	90717133	A	T	1	0	0	0	0	1	0	0	0	1466	40	2	4		4	BARHL2	1	90717133	Missense_Mutation	SNP	A	C3N-01842_TP	1661978	90717133	158239289	21	27875											
ZNF644	0	.	GRCh38	chr1	90940954	90940954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggttaatgaaacactgcCtttattcatattggaagtct	12	15	8	6	0	2	1	1	1	1	0	2	2	2	2	1	2	2	1	1	2	5	6	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.400G>A	p.Gly134Ser	p.G134S	ENST00000337393	3/6	330	256	74	286	286	0	strelka-varscan-mutect	ZNF644,missense_variant,p.Gly134Ser,ENST00000337393,NM_201269.2;ZNF644,missense_variant,p.Gly134Ser,ENST00000370440,;ZNF644,intron_variant,,ENST00000347275,NM_016620.3;ZNF644,intron_variant,,ENST00000361321,NM_032186.4;ZNF644,upstream_gene_variant,,ENST00000621077,;ZNF644,non_coding_transcript_exon_variant,,ENST00000498303,;ZNF644,intron_variant,,ENST00000467231,;	T	ENST00000337393	Transcript	missense_variant	683/5763	400/3984	134/1327	G/S	Ggc/Agc		1		-1	ZNF644	HGNC	HGNC:29222	protein_coding	YES	CCDS731.1	ENSP00000337008	Q9H582		UPI000004A010	NM_201269.2	deleterious(0.05)		3/6		hmmpanther:PTHR24402:SF180,hmmpanther:PTHR24402																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	90940954	90940954	C	T	1	0	0	0	0	1	0	0	0	18633	681	24	3		3	ZNF644	1	90940954	Missense_Mutation	SNP	C	C3N-01842_TP	223821	90940954	158015468	22	27876											
SETSIP	0	.	GRCh38	chr1	92074664	92074664	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcaccatcatcatcatCatcatcatcatcttctcctc	10	15	0	16	0	11	0	9	0	2	0	13	0	11	0	2	0	0	0	2	0	0	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.778G>T	p.Asp260Tyr	p.D260Y	ENST00000596516	1/1	98	70	28	87	87	0	strelka-varscan-mutect	SETSIP,missense_variant,p.Asp260Tyr,ENST00000596516,NM_001287737.1;SETSIP,missense_variant,p.Asp250Tyr,ENST00000485873,;	A	ENST00000596516	Transcript	missense_variant	778/909	778/909	260/302	D/Y	Gat/Tat		1		-1	SETSIP	HGNC	HGNC:42937	protein_coding	YES	CCDS72821.1	ENSP00000480946	P0DME0		UPI000016114F	NM_001287737.1	deleterious(0.02)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11875:SF74,hmmpanther:PTHR11875																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	84	92074664	92074664	C	A	1	0	0	0	0	1	0	0	0	14419	826	29	2		2	SETSIP	1	92074664	Missense_Mutation	SNP	C	C3N-01842_TP	1133710	92074664	156881758	23	27877											
SNX7	0	.	GRCh38	chr1	98684929	98684929	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcagccctatgatgccAacatcccctttatcaatgat	10	13	4	14	0	2	2	2	2	0	0	4	2	4	2	5	0	3	0	5	0	4	4	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.225A>T	p.=	p.P75P	ENST00000306121	2/9	99	78	21	75	75	0	strelka-varscan-mutect	SNX7,synonymous_variant,p.=,ENST00000306121,NM_015976.4;SNX7,synonymous_variant,p.=,ENST00000529992,NM_152238.3;SNX7,synonymous_variant,p.=,ENST00000454199,;SNX7,3_prime_UTR_variant,,ENST00000528824,;	T	ENST00000306121	Transcript	synonymous_variant	234/1734	225/1356	75/451	P	ccA/ccT		1		1	SNX7	HGNC	HGNC:14971	protein_coding	YES	CCDS755.2	ENSP00000304429	Q9UNH6		UPI0000205396	NM_015976.4			2/9		hmmpanther:PTHR10555:SF21,hmmpanther:PTHR10555																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	84	98684929	98684929	A	T	1	0	0	0	0	0	0	0	1	15228	117	5	4		4	SNX7	1	98684929	Silent	SNP	A	C3N-01842_TP	6610265	98684929	150271493	24	27878											
RBM15	0	.	GRCh38	chr1	110342023	110342023	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgacagccggtcctcctCttcctcagctgcatcagaca	7	11	7	16	1	4	2	2	1	2	1	7	2	7	2	4	1	3	2	4	1	0	2			C3N-01842_TP	C3N-01842_NB	C	C																c.2618C>G	p.Ser873Cys	p.S873C	ENST00000369784	1/3	275	199	76	338	338	0	strelka-varscan-mutect	RBM15,missense_variant,p.Ser873Cys,ENST00000369784,;RBM15,missense_variant,p.Ser873Cys,ENST00000618772,NM_022768.4;RBM15,missense_variant,p.Ser873Cys,ENST00000602849,;RBM15,missense_variant,p.Ser873Cys,ENST00000487146,NM_001201545.1;RBM15,missense_variant,p.Ser829Cys,ENST00000617047,;RP5-1074L1.1,upstream_gene_variant,,ENST00000449169,;	G	ENST00000369784	Transcript	missense_variant	3518/4244	2618/2934	873/977	S/C	tCt/tGt	COSM3801227	1		1	RBM15	HGNC	HGNC:14959	protein_coding	YES	CCDS822.1	ENSP00000358799	Q96T37		UPI000013E1C5		deleterious(0.03)		1/3		Low_complexity_(Seg):seg,PROSITE_profiles:PS50917,hmmpanther:PTHR23189:SF43,hmmpanther:PTHR23189,Gene3D:2.40.290.10,Pfam_domain:PF07744,Superfamily_domains:SSF100939											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	84	110342023	110342023	C	G	1	0	0	0	0	1	0	0	0	13282	913	32	4		4	RBM15	1	110342023	Missense_Mutation	SNP	C	C3N-01842_TP	11657094	110342023	138614399	25	27879											
KCNA2	0	.	GRCh38	chr1	110603563	110603563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaattggacacaatgacaGggaccggtaaggcaatagtt	15	8	12	6	1	0	2	0	2	0	0	0	4	0	4	1	4	0	3	1	4	5	4	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1220C>T	p.Pro407Leu	p.P407L	ENST00000633222	3/3	483	390	93	548	548	0	strelka-varscan-mutect	KCNA2,missense_variant,p.Pro407Leu,ENST00000633222,;KCNA2,missense_variant,p.Pro407Leu,ENST00000485317,;KCNA2,missense_variant,p.Pro407Leu,ENST00000316361,NM_004974.3;KCNA2,intron_variant,,ENST00000369770,NM_001204269.1;KCNA2,downstream_gene_variant,,ENST00000525120,;	A	ENST00000633222	Transcript	missense_variant	1894/11877	1220/1500	407/499	P/L	cCt/cTt		1		-1	KCNA2	HGNC	HGNC:6220	protein_coding	YES	CCDS827.1	ENSP00000487785	P16389		UPI00001279A1		deleterious(0)		3/3		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,Prints_domain:PR01491,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF23,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	84	110603563	110603563	G	A	1	0	0	0	0	1	0	0	0	7919	1000	35	3		3	KCNA2	1	110603563	Missense_Mutation	SNP	G	C3N-01842_TP	261540	110603563	138352859	26	27880											
PTPN22	0	.	GRCh38	chr1	113848602	113848602	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttaaatagttctaatacagCattgtagaccagttcatatt	14	15	5	7	0	2	1	1	0	1	1	2	1	2	1	1	0	2	4	1	0	7	10	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.853G>T	p.Ala285Ser	p.A285S	ENST00000359785	11/21	223	184	39	198	198	0	strelka-varscan-mutect	PTPN22,missense_variant,p.Ala285Ser,ENST00000359785,NM_001193431.1,NM_015967.5;PTPN22,missense_variant,p.Ala261Ser,ENST00000538253,NM_001308297.1;PTPN22,missense_variant,p.Ala285Ser,ENST00000420377,;PTPN22,missense_variant,p.Ala158Ser,ENST00000525799,;PTPN22,intron_variant,,ENST00000528414,NM_012411.4;PTPN22,intron_variant,,ENST00000460620,;PTPN22,3_prime_UTR_variant,,ENST00000532224,;PTPN22,non_coding_transcript_exon_variant,,ENST00000484147,;	A	ENST00000359785	Transcript	missense_variant	989/3654	853/2424	285/807	A/S	Gct/Tct		1		-1	PTPN22	HGNC	HGNC:9652	protein_coding	YES	CCDS863.1	ENSP00000352833		A0A0B4J1S7	UPI000013CF18	NM_001193431.1,NM_015967.5	deleterious(0)		11/21		PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF301,hmmpanther:PTHR19134,PIRSF_domain:PIRSF000930,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00404,SMART_domains:SM00194,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	113848602	113848602	C	A	1	0	0	0	0	1	0	0	0	12941	710	25	2		2	PTPN22	1	113848602	Missense_Mutation	SNP	C	C3N-01842_TP	3245039	113848602	135107820	27	27881											
RNF115	0	.	GRCh38	chr1	145823834	145823834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaccggtgggcggctacagCggcgcccgagtccgccccgg	6	3	16	16	7	0	0	0	0	0	0	1	1	1	0	5	5	3	1	5	5	2	1	rs782120888		C3N-01842_TP	C3N-01842_NB	C	C																c.40G>T	p.Ala14Ser	p.A14S	ENST00000582693	1/9	201	167	34	191	190	1	strelka-varscan-mutect	RNF115,missense_variant,p.Ala14Ser,ENST00000582693,NM_014455.3;POLR3C,upstream_gene_variant,,ENST00000334163,NM_006468.7,NM_001303456.1;POLR3C,upstream_gene_variant,,ENST00000369294,;POLR3C,upstream_gene_variant,,ENST00000471254,;POLR3C,upstream_gene_variant,,ENST00000466003,;	A	ENST00000582693	Transcript	missense_variant	244/9117	40/915	14/304	A/S	Gct/Tct	rs782120888	1		-1	RNF115	HGNC	HGNC:18154	protein_coding	YES	CCDS72863.1	ENSP00000463650	Q9Y4L5		UPI00001B061B	NM_014455.3	tolerated(0.17)		1/9		hmmpanther:PTHR22763,hmmpanther:PTHR22763:SF3,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs782120888	.												A	3	1	84	145823834	145823834	C	A	1	0	0	0	0	1	0	0	0	13608	768	27	1		1	RNF115	1	145823834	Missense_Mutation	SNP	C	C3N-01842_TP	31975232	145823834	103132588	28	27882											
LCE3E	0	.	GRCh38	chr1	152566036	152566036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggcatcggtggtggcgcCtgtggtggttcaggaagcag	5	8	19	9	3	1	0	1	0	0	0	2	1	1	1	2	7	1	3	2	7	1	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.173G>T	p.Arg58Met	p.R58M	ENST00000368789	2/2	494	317	177	544	543	1	strelka-varscan-mutect	LCE3E,missense_variant,p.Arg58Met,ENST00000368789,NM_178435.3;	A	ENST00000368789	Transcript	missense_variant	229/611	173/279	58/92	R/M	aGg/aTg		1		-1	LCE3E	HGNC	HGNC:29463	protein_coding	YES	CCDS1013.1	ENSP00000357778	Q5T5B0		UPI00001927D0	NM_178435.3	deleterious_low_confidence(0.01)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF43,hmmpanther:PTHR23263,Pfam_domain:PF14672																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	152566036	152566036	C	A	1	0	0	0	0	1	0	0	0	8578	681	24	2		2	LCE3E	1	152566036	Missense_Mutation	SNP	C	C3N-01842_TP	6742202	152566036	96390386	29	27883											
PYGO2	0	.	GRCh38	chr1	154959050	154959050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggaggctggggcccggagCccccacctgccttgccaggg	4	4	18	15	1	0	0	0	0	0	0	0	2	0	2	6	7	3	1	6	7	0	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.950G>T	p.Gly317Val	p.G317V	ENST00000368457	3/3	213	181	32	167	167	0	strelka-varscan-mutect	PYGO2,missense_variant,p.Gly317Val,ENST00000368457,NM_138300.3;PYGO2,missense_variant,p.Gly280Val,ENST00000368456,;SHC1,downstream_gene_variant,,ENST00000448116,NM_001130040.1;SHC1,downstream_gene_variant,,ENST00000368445,NM_183001.4;PBXIP1,upstream_gene_variant,,ENST00000368463,NM_020524.2;PBXIP1,upstream_gene_variant,,ENST00000368465,NM_001317734.1;SHC1,downstream_gene_variant,,ENST00000368453,NM_003029.4;SHC1,downstream_gene_variant,,ENST00000368450,NM_001202859.1,NM_001130041.1;SHC1,downstream_gene_variant,,ENST00000368449,;SHC1,downstream_gene_variant,,ENST00000444664,;PBXIP1,upstream_gene_variant,,ENST00000368460,;RP11-307C12.12,upstream_gene_variant,,ENST00000605085,;SHC1,downstream_gene_variant,,ENST00000490667,;PYGO2,downstream_gene_variant,,ENST00000483463,;PBXIP1,upstream_gene_variant,,ENST00000490230,;	A	ENST00000368457	Transcript	missense_variant	1122/3146	950/1221	317/406	G/V	gGc/gTc		1		-1	PYGO2	HGNC	HGNC:30257	protein_coding	YES	CCDS1075.1	ENSP00000357442	Q9BRQ0	Q5T170	UPI00000015CD	NM_138300.3	tolerated(0.3)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR23194,hmmpanther:PTHR23194:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	154959050	154959050	C	A	1	0	0	0	0	1	0	0	0	13018	739	26	2		2	PYGO2	1	154959050	Missense_Mutation	SNP	C	C3N-01842_TP	2393014	154959050	93997372	30	27884											
SLAMF7	0	.	GRCh38	chr1	160748454	160748454	+	Missense_Mutation	SNP	G	G	A																															actcagggatctactatgtgGggatatacagctcatcactc																								novel		C3N-01842_TP	C3N-01842_NB	G	G																c.316G>A	p.Gly106Arg	p.G106R	ENST00000368043	2/7	286	236	50	264	264	0	strelka-varscan-mutect	SLAMF7,missense_variant,p.Gly106Arg,ENST00000368043,NM_021181.4;SLAMF7,missense_variant,p.Gly106Arg,ENST00000359331,NM_001282592.1,NM_001282596.1;SLAMF7,missense_variant,p.Gly106Arg,ENST00000441662,NM_001282589.1;SLAMF7,missense_variant,p.Gly106Arg,ENST00000444090,NM_001282588.1;SLAMF7,missense_variant,p.Gly106Arg,ENST00000495334,;SLAMF7,intron_variant,,ENST00000621377,NM_001282594.1;SLAMF7,intron_variant,,ENST00000458602,NM_001282591.1;SLAMF7,intron_variant,,ENST00000368042,NM_001282595.1,NM_001282590.1;SLAMF7,intron_variant,,ENST00000458104,NM_001282593.1;SLAMF7,downstream_gene_variant,,ENST00000488819,;SLAMF7,upstream_gene_variant,,ENST00000484221,;	A	ENST00000368043	Transcript	missense_variant	353/2689	316/1008	106/335	G/R	Ggg/Agg		1		1	SLAMF7	HGNC	HGNC:21394	protein_coding	YES	CCDS1209.1	ENSP00000357022	Q9NQ25		UPI00000389DC	NM_021181.4	deleterious(0.05)		2/7		Low_complexity_(Seg):seg,hmmpanther:PTHR12080:SF46,hmmpanther:PTHR12080,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	160748454	160748454	G	A	1	0	0	0	0	1	0	0	0	14634	1232	43	3		3	SLAMF7	1	160748454	Missense_Mutation	SNP	G	C3N-01842_TP	5789404	160748454	88207968	31	27885	586	2									
SLAMF7	0	.	GRCh38	chr1	160748455	160748455	+	Missense_Mutation	SNP	G	G	T																															ctcagggatctactatgtggGgatatacagctcatcactcc																								novel		C3N-01842_TP	C3N-01842_NB	G	G																c.317G>T	p.Gly106Val	p.G106V	ENST00000368043	2/7	281	231	50	260	260	0	strelka-varscan-mutect	SLAMF7,missense_variant,p.Gly106Val,ENST00000368043,NM_021181.4;SLAMF7,missense_variant,p.Gly106Val,ENST00000359331,NM_001282592.1,NM_001282596.1;SLAMF7,missense_variant,p.Gly106Val,ENST00000441662,NM_001282589.1;SLAMF7,missense_variant,p.Gly106Val,ENST00000444090,NM_001282588.1;SLAMF7,missense_variant,p.Gly106Val,ENST00000495334,;SLAMF7,intron_variant,,ENST00000621377,NM_001282594.1;SLAMF7,intron_variant,,ENST00000458602,NM_001282591.1;SLAMF7,intron_variant,,ENST00000368042,NM_001282595.1,NM_001282590.1;SLAMF7,intron_variant,,ENST00000458104,NM_001282593.1;SLAMF7,downstream_gene_variant,,ENST00000488819,;SLAMF7,upstream_gene_variant,,ENST00000484221,;	T	ENST00000368043	Transcript	missense_variant	354/2689	317/1008	106/335	G/V	gGg/gTg		1		1	SLAMF7	HGNC	HGNC:21394	protein_coding	YES	CCDS1209.1	ENSP00000357022	Q9NQ25		UPI00000389DC	NM_021181.4	tolerated(0.15)		2/7		Low_complexity_(Seg):seg,hmmpanther:PTHR12080:SF46,hmmpanther:PTHR12080,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	160748455	160748455	G	T	1	0	0	0	0	1	0	0	0	14634	1232	43	2		2	SLAMF7	1	160748455	Missense_Mutation	SNP	G	C3N-01842_TP	1	160748455	88207967	32	27886	586	2									
TNR	0	.	GRCh38	chr1	175403191	175403191	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcacagacgcagagcccctCctcacattgtcctcgcccac	8	8	6	19	2	2	2	2	0	0	2	5	2	4	2	5	0	1	1	5	0	0	2			C3N-01842_TP	C3N-01842_NB	C	C																c.925G>T	p.Glu309Ter	p.E309*	ENST00000367674	4/23	239	193	46	226	226	0	strelka-varscan-mutect	TNR,stop_gained,p.Glu309Ter,ENST00000367674,;TNR,stop_gained,p.Glu309Ter,ENST00000263525,NM_003285.2;TNR,intron_variant,,ENST00000422274,;	A	ENST00000367674	Transcript	stop_gained	1634/12949	925/4077	309/1358	E/*	Gag/Tag	COSM676979	1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C				4/23		Gene3D:2.10.25.10,Pfam_domain:PF07974,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF254,SMART_domains:SM00181											1						HIGH	1	SNV	5		1	1										PASS		.	.												A	4	1	84	175403191	175403191	C	A	1	0	0	0	0	0	1	0	0	16811	864	30	2		2	TNR	1	175403191	Nonsense_Mutation	SNP	C	C3N-01842_TP	14654736	175403191	73553231	33	27887											
BRINP3	0	.	GRCh38	chr1	190226286	190226286	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctgcttgtacaaaacgttCctgaagatagtctgggagaa	13	10	11	7	1	1	3	0	1	1	2	2	4	2	3	1	1	4	4	1	1	6	4	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.757G>T	p.Glu253Ter	p.E253*	ENST00000367462	6/8	277	190	87	190	188	2	strelka-varscan	BRINP3,stop_gained,p.Glu253Ter,ENST00000367462,NM_199051.1;BRINP3,upstream_gene_variant,,ENST00000463404,;	A	ENST00000367462	Transcript	stop_gained	1242/3142	757/2301	253/766	E/*	Gaa/Taa		1		-1	BRINP3	HGNC	HGNC:22393	protein_coding	YES	CCDS1373.1	ENSP00000356432	Q76B58		UPI00001C1D9A	NM_199051.1			6/8		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2,SMART_domains:SM00457																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	84	190226286	190226286	C	A	1	0	0	0	0	0	1	0	0	1687	864	30	2		2	BRINP3	1	190226286	Nonsense_Mutation	SNP	C	C3N-01842_TP	14823095	190226286	58730136	34	27888											
ASPM	0	.	GRCh38	chr1	197117979	197117979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattcttgcagctttctctCtctcctaaaataaaaaagtc	13	15	3	10	0	3	0	0	0	3	0	7	0	4	0	1	0	2	2	1	0	6	6			C3N-01842_TP	C3N-01842_NB	C	C																c.3875G>T	p.Arg1292Ile	p.R1292I	ENST00000367409	17/28	523	357	166	331	331	0	strelka-varscan	ASPM,missense_variant,p.Arg1292Ile,ENST00000367409,NM_018136.4;ASPM,missense_variant,p.Arg1292Ile,ENST00000294732,NM_001206846.1;ASPM,missense_variant,p.Arg542Ile,ENST00000367408,;ASPM,intron_variant,,ENST00000612785,;	A	ENST00000367409	Transcript	missense_variant	4132/10887	3875/10434	1292/3477	R/I	aGa/aTa	COSM238862	1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4	deleterious(0)		17/28		Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	84	197117979	197117979	C	A	1	0	0	0	0	1	0	0	0	1203	927	32	2		2	ASPM	1	197117979	Missense_Mutation	SNP	C	C3N-01842_TP	6891693	197117979	51838443	35	27889											
CRB1	0	.	GRCh38	chr1	197477715	197477715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactattggctcagtgactGtcgccttgttactgatcctc	6	14	8	13	1	1	2	1	2	0	0	4	2	2	2	3	1	1	2	3	1	2	4	rs200670424		C3N-01842_TP	C3N-01842_NB	G	G																c.4057G>T	p.Val1353Phe	p.V1353F	ENST00000367400	12/12	865	724	141	708	708	0	strelka-varscan	CRB1,missense_variant,p.Val1329Phe,ENST00000535699,NM_001257965.1;CRB1,missense_variant,p.Val1353Phe,ENST00000367400,NM_201253.2;CRB1,missense_variant,p.Val1241Phe,ENST00000367399,NM_001193640.1;CRB1,missense_variant,p.Val817Phe,ENST00000538660,NM_001257966.1;CRB1,3_prime_UTR_variant,,ENST00000448952,;CRB1,3_prime_UTR_variant,,ENST00000484075,;	T	ENST00000367400	Transcript	missense_variant	4192/4932	4057/4221	1353/1406	V/F	Gtc/Ttc	rs200670424	1		1	CRB1	HGNC	HGNC:2343	protein_coding	YES	CCDS1390.1	ENSP00000356370	P82279		UPI0000073345	NM_201253.2	deleterious(0.03)		12/12		hmmpanther:PTHR24049,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	197477715	197477715	G	T	1	0	0	0	0	1	0	0	0	3648	1377	48	2		2	CRB1	1	197477715	Missense_Mutation	SNP	G	C3N-01842_TP	359736	197477715	51478707	36	27890											
DENND1B	0	.	GRCh38	chr1	197672156	197672156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaacttgattctgagacacCctaaaatatagtaacattag	16	11	5	9	0	1	2	0	2	1	1	1	3	1	2	2	0	2	1	2	0	7	7	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.177G>C	p.Arg59Ser	p.R59S	ENST00000620048	5/23	208	188	20	161	161	0	strelka-varscan	DENND1B,missense_variant,p.Arg59Ser,ENST00000620048,NM_001195215.1;DENND1B,missense_variant,p.Arg49Ser,ENST00000235453,NM_001300858.1;DENND1B,missense_variant,p.Arg59Ser,ENST00000367396,NM_144977.4;DENND1B,missense_variant,p.Arg23Ser,ENST00000422998,;DENND1B,splice_region_variant,,ENST00000294738,;DENND1B,missense_variant,p.Arg59Ser,ENST00000294737,;	G	ENST00000620048	Transcript	missense_variant,splice_region_variant	515/8375	177/2328	59/775	R/S	agG/agC		1		-1	DENND1B	HGNC	HGNC:28404	protein_coding	YES	CCDS72997.1	ENSP00000479816	Q6P3S1		UPI000178DE4E	NM_001195215.1	tolerated(0.65)		5/23		Pfam_domain:PF03456,PROSITE_profiles:PS50946,hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF24,SMART_domains:SM00800																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	84	197672156	197672156	C	G	1	0	0	0	0	1	0	0	0	4231	637	22	4		4	DENND1B	1	197672156	Missense_Mutation	SNP	C	C3N-01842_TP	194441	197672156	51284266	37	27891											
PLXNA2	0	.	GRCh38	chr1	208034574	208034574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtttggggaccagagccaCcaccgacctgtctgacacct	8	8	10	15	1	1	2	0	1	1	1	1	4	1	3	6	2	1	1	6	2	0	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.4783G>C	p.Val1595Leu	p.V1595L	ENST00000367033	27/32	273	235	38	293	293	0	strelka-varscan	PLXNA2,missense_variant,p.Val1595Leu,ENST00000367033,NM_025179.3;PLXNA2,upstream_gene_variant,,ENST00000483048,;PLXNA2,downstream_gene_variant,,ENST00000463510,;PLXNA2,upstream_gene_variant,,ENST00000480053,;	G	ENST00000367033	Transcript	missense_variant	5541/11444	4783/5685	1595/1894	V/L	Gtg/Ctg		1		-1	PLXNA2	HGNC	HGNC:9100	protein_coding	YES	CCDS31013.1	ENSP00000356000	O75051		UPI000022B239	NM_025179.3	tolerated(0.5)		27/32		hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625,Gene3D:3.10.20.90,Pfam_domain:PF08337																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	208034574	208034574	C	G	1	0	0	0	0	1	0	0	0	12226	507	18	4		4	PLXNA2	1	208034574	Missense_Mutation	SNP	C	C3N-01842_TP	10362418	208034574	40921848	38	27892											
KCNH1	0	.	GRCh38	chr1	210683923	210683923	+	Silent	SNP	G	G	T																															acgaggctgtggttggcggaGgcatgctctgtaaggacatt																								rs747709341		C3N-01842_TP	C3N-01842_NB	G	G																c.2328C>A	p.=	p.A776A	ENST00000271751	11/11	141	113	28	95	95	0	strelka-varscan	KCNH1,synonymous_variant,p.=,ENST00000271751,NM_172362.2;KCNH1,synonymous_variant,p.=,ENST00000367007,NM_002238.3;RP11-75I2.3,downstream_gene_variant,,ENST00000625140,;	T	ENST00000271751	Transcript	synonymous_variant	2356/7964	2328/2970	776/989	A	gcC/gcA	rs747709341	1		-1	KCNH1	HGNC	HGNC:6250	protein_coding	YES	CCDS1496.1	ENSP00000271751	O95259		UPI000003230D	NM_172362.2			11/11		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF533																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	84	210683923	210683923	G	T	1	0	0	0	0	0	0	0	1	7947	987	35	2		2	KCNH1	1	210683923	Silent	SNP	G	C3N-01842_TP	2649349	210683923	38272499	39	27893	587	2									
KCNH1	0	.	GRCh38	chr1	210683924	210683924	+	Missense_Mutation	SNP	G	G	T																															cgaggctgtggttggcggagGcatgctctgtaaggacattg																								rs138931464		C3N-01842_TP	C3N-01842_NB	G	G																c.2327C>A	p.Ala776Asp	p.A776D	ENST00000271751	11/11	135	107	28	94	94	0	strelka-varscan	KCNH1,missense_variant,p.Ala776Asp,ENST00000271751,NM_172362.2;KCNH1,missense_variant,p.Ala749Asp,ENST00000367007,NM_002238.3;RP11-75I2.3,downstream_gene_variant,,ENST00000625140,;	T	ENST00000271751	Transcript	missense_variant	2355/7964	2327/2970	776/989	A/D	gCc/gAc	rs138931464	1		-1	KCNH1	HGNC	HGNC:6250	protein_coding	YES	CCDS1496.1	ENSP00000271751	O95259		UPI000003230D	NM_172362.2	tolerated(0.61)		11/11		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF533																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	84	210683924	210683924	G	T	1	0	0	0	0	1	0	0	0	7947	1203	42	2		2	KCNH1	1	210683924	Missense_Mutation	SNP	G	C3N-01842_TP	1	210683924	38272498	40	27894	587	2									
SUSD4	0	.	GRCh38	chr1	223223345	223223345	+	Missense_Mutation	SNP	G	G	C																															agcagggtgggtgctctcttGgcacctgggaggtgaataca																								novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1348C>G	p.Gln450Glu	p.Q450E	ENST00000343846	7/8	119	97	22	149	149	0	strelka-varscan	SUSD4,missense_variant,p.Gln450Glu,ENST00000343846,;SUSD4,missense_variant,p.Gln450Glu,ENST00000366878,NM_017982.3;SUSD4,missense_variant,p.Gln381Glu,ENST00000484758,;SUSD4,missense_variant,p.Gln423Glu,ENST00000608996,;SUSD4,missense_variant,p.Gln450Glu,ENST00000494793,;SUSD4,downstream_gene_variant,,ENST00000470249,;SUSD4,downstream_gene_variant,,ENST00000484503,;	C	ENST00000343846	Transcript	missense_variant	1982/3480	1348/1473	450/490	Q/E	Caa/Gaa		1		-1	SUSD4	HGNC	HGNC:25470	protein_coding	YES	CCDS41471.1	ENSP00000344219	Q5VX71		UPI0000205CB5		tolerated(0.33)		7/8																			MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	84	223223345	223223345	G	C	1	0	0	0	0	1	0	0	0	15795	1357	47	4		4	SUSD4	1	223223345	Missense_Mutation	SNP	G	C3N-01842_TP	12539421	223223345	25733077	41	27895	588	2									
SUSD4	0	.	GRCh38	chr1	223223346	223223346	+	Nonsense_Mutation	SNP	G	G	T																															gcagggtgggtgctctcttgGcacctgggaggtgaatacag																								rs776617273		C3N-01842_TP	C3N-01842_NB	G	G																c.1347C>A	p.Cys449Ter	p.C449*	ENST00000343846	7/8	118	97	21	148	147	1	strelka-varscan	SUSD4,stop_gained,p.Cys449Ter,ENST00000343846,;SUSD4,stop_gained,p.Cys449Ter,ENST00000366878,NM_017982.3;SUSD4,stop_gained,p.Cys380Ter,ENST00000484758,;SUSD4,stop_gained,p.Cys422Ter,ENST00000608996,;SUSD4,stop_gained,p.Cys449Ter,ENST00000494793,;SUSD4,downstream_gene_variant,,ENST00000470249,;SUSD4,downstream_gene_variant,,ENST00000484503,;	T	ENST00000343846	Transcript	stop_gained	1981/3480	1347/1473	449/490	C/*	tgC/tgA	rs776617273	1		-1	SUSD4	HGNC	HGNC:25470	protein_coding	YES	CCDS41471.1	ENSP00000344219	Q5VX71		UPI0000205CB5				7/8																			HIGH	1	SNV	2			1										PASS		.	.												T	4	4	84	223223346	223223346	G	T	1	0	0	0	0	0	1	0	0	15795	1195	42	2		2	SUSD4	1	223223346	Nonsense_Mutation	SNP	G	C3N-01842_TP	1	223223346	25733076	42	27896	588	2									
MIXL1	0	.	GRCh38	chr1	226223765	226223765	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccccacgccggcggggcGctcctgccgcccccgagccc	2	2	13	24	6	0	0	0	0	0	0	1	1	1	0	9	3	2	1	9	3	0	0			C3N-01842_TP	C3N-01842_NB	G	G																c.84G>C	p.=	p.A28A	ENST00000542034	1/2	76	58	18	71	71	0	strelka-varscan	MIXL1,synonymous_variant,p.=,ENST00000366810,NM_031944.2;MIXL1,synonymous_variant,p.=,ENST00000542034,NM_001282402.1;MIXL1,upstream_gene_variant,,ENST00000557734,;	C	ENST00000542034	Transcript	synonymous_variant	148/839	84/723	28/240	A	gcG/gcC	COSM5663958	1		1	MIXL1	HGNC	HGNC:13363	protein_coding	YES	CCDS60432.1	ENSP00000442439	Q9H2W2		UPI000189A780	NM_001282402.1			1/2		Low_complexity_(Seg):seg											1						LOW	1	SNV	1		1	1										PASS		.	.												C	2	2	84	226223765	226223765	G	C	1	0	0	0	0	0	0	0	1	9565	1074	38	4		4	MIXL1	1	226223765	Silent	SNP	G	C3N-01842_TP	3000419	226223765	22732657	43	27897											
HEATR1	0	.	GRCh38	chr1	236571664	236571664	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattccatatttccctgctCttgtggcaagggttctaaac	8	15	8	10	0	2	0	0	0	2	0	4	0	4	0	2	2	2	4	2	2	5	7	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.3730G>T	p.Glu1244Ter	p.E1244*	ENST00000366582	27/45	313	260	53	199	199	0	strelka-varscan	HEATR1,stop_gained,p.Glu1244Ter,ENST00000366582,NM_018072.5;HEATR1,stop_gained,p.Glu1163Ter,ENST00000366581,;HEATR1,downstream_gene_variant,,ENST00000490339,;	A	ENST00000366582	Transcript	stop_gained	3845/8447	3730/6435	1244/2144	E/*	Gag/Tag		1		-1	HEATR1	HGNC	HGNC:25517	protein_coding	YES	CCDS31066.1	ENSP00000355541	Q9H583		UPI000013D4D4	NM_018072.5			27/45		Gene3D:1.25.10.10,hmmpanther:PTHR13457,hmmpanther:PTHR13457:SF1,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	84	236571664	236571664	C	A	1	0	0	0	0	0	1	0	0	6910	922	32	2		2	HEATR1	1	236571664	Nonsense_Mutation	SNP	C	C3N-01842_TP	10347899	236571664	12384758	44	27898											
ACTN2	0	.	GRCh38	chr1	236755073	236755073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggaagaccagatgaacCagctgaagcagtatgagcac	14	5	11	11	0	0	5	0	3	0	2	0	6	0	6	3	1	4	4	3	1	4	1			C3N-01842_TP	C3N-01842_NB	C	C																c.2029C>G	p.Gln677Glu	p.Q677E	ENST00000542672	17/21	685	476	209	713	713	0	strelka-varscan	ACTN2,missense_variant,p.Gln469Glu,ENST00000546208,NM_001278344.1;ACTN2,missense_variant,p.Gln677Glu,ENST00000542672,NM_001278343.1;ACTN2,missense_variant,p.Gln677Glu,ENST00000366578,NM_001103.3;ACTN2,non_coding_transcript_exon_variant,,ENST00000461367,;	G	ENST00000542672	Transcript	missense_variant	2249/4906	2029/2685	677/894	Q/E	Cag/Gag	COSM4432835,COSM4432836	1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1	tolerated(0.5)		17/21		Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,SMART_domains:SM00150,Superfamily_domains:SSF46966											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	84	236755073	236755073	C	G	1	0	0	0	0	1	0	0	0	249	595	21	4		4	ACTN2	1	236755073	Missense_Mutation	SNP	C	C3N-01842_TP	183409	236755073	12201349	45	27899											
OR2T33	0	.	GRCh38	chr1	248272974	248272974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgagggggtttagtaaagGggtgaacatagtatagaagg	14	9	17	1	0	0	3	0	2	0	1	0	4	0	3	0	5	1	3	0	5	8	6	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.841C>A	p.Pro281Thr	p.P281T	ENST00000318021	1/1	518	433	85	448	448	0	strelka-varscan	OR2T33,missense_variant,p.Pro281Thr,ENST00000318021,NM_001004695.1;	T	ENST00000318021	Transcript	missense_variant	841/963	841/963	281/320	P/T	Cct/Act		1		-1	OR2T33	HGNC	HGNC:31255	protein_coding	YES	CCDS31109.1	ENSP00000324687	Q8NG76		UPI000004B237	NM_001004695.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF246,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	84	248272974	248272974	G	T	1	0	0	0	0	1	0	0	0	11101	1232	43	2		2	OR2T33	1	248272974	Missense_Mutation	SNP	G	C3N-01842_TP	11517901	248272974	683448	46	27900											
OR2T27	0	.	GRCh38	chr1	248650301	248650301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacatacatggctgtctcgTaggctgatgtgtccgtgcag	8	11	13	9	2	1	2	0	1	1	1	3	2	2	2	1	2	2	4	1	2	2	2	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.584A>G	p.Tyr195Cys	p.Y195C	ENST00000344889	1/1	152	128	24	129	129	0	strelka-varscan	OR2T27,missense_variant,p.Tyr195Cys,ENST00000344889,NM_001001824.1;	C	ENST00000344889	Transcript	missense_variant	584/954	584/954	195/317	Y/C	tAc/tGc		1		-1	OR2T27	HGNC	HGNC:31252	protein_coding	YES	CCDS31124.1	ENSP00000342008	Q8NH04		UPI000004F239	NM_001001824.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF78,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	84	248650301	248650301	T	C	1	0	0	0	0	1	0	0	0	11098	1638	57	5		5	OR2T27	1	248650301	Missense_Mutation	SNP	T	C3N-01842_TP	377327	248650301	306121	47	27901											
SOX11	0	.	GRCh38	chr2	5692853	5692853	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacccagactggtgcaagacGgcgtcgggccacatcaagcg	10	4	14	13	4	1	2	1	0	0	2	2	3	1	2	2	3	2	1	2	3	2	0			C3N-01842_TP	C3N-01842_NB	G	G																c.132G>A	p.=	p.T44T	ENST00000322002	1/1	193	179	14	234	234	0	strelka-mutect	SOX11,synonymous_variant,p.=,ENST00000322002,NM_003108.3;AC108025.2,upstream_gene_variant,,ENST00000453678,;AC010729.1,upstream_gene_variant,,ENST00000455579,;LINC01248,upstream_gene_variant,,ENST00000458264,;AC108025.2,upstream_gene_variant,,ENST00000420221,;	A	ENST00000322002	Transcript	synonymous_variant	187/8719	132/1326	44/441	T	acG/acA	COSM4525423	1		1	SOX11	HGNC	HGNC:11191	protein_coding	YES	CCDS1654.1	ENSP00000322568	P35716		UPI00001362AD	NM_003108.3			1/1		PIRSF_domain:PIRSF038098,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF113,Superfamily_domains:SSF47095											1						LOW		SNV			1	1										PASS		.	.												A	2	1	84	5692853	5692853	G	A	1	0	0	0	0	0	0	0	1	15268	1103	39	1		1	SOX11	2	5692853	Silent	SNP	G	C3N-01842_TP		5692853	236500676	48	27902											
GAREM2	0	.	GRCh38	chr2	26184471	26184471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggcgggggcgccaggcCggtcaaaggcaagatgccct	7	4	18	12	4	1	1	1	0	0	1	1	1	1	1	3	7	1	1	3	7	2	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.623C>A	p.Pro208Gln	p.P208Q	ENST00000401533	4/6	227	184	43	324	324	0	strelka-varscan	GAREM2,missense_variant,p.Pro131Gln,ENST00000407684,NM_001191033.1;GAREM2,missense_variant,p.Pro208Gln,ENST00000401533,NM_001168241.1;GAREM2,upstream_gene_variant,,ENST00000496070,;	A	ENST00000401533	Transcript	missense_variant	753/4161	623/2625	208/874	P/Q	cCg/cAg		1		1	GAREM2	HGNC	HGNC:27172	protein_coding	YES	CCDS54336.1	ENSP00000384593	Q75VX8		UPI0000237273	NM_001168241.1	tolerated(0.42)		4/6		Pfam_domain:PF12736																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	26184471	26184471	C	A	1	0	0	0	0	1	0	0	0	6110	652	23	1		1	GAREM2	2	26184471	Missense_Mutation	SNP	C	C3N-01842_TP	20491618	26184471	216009058	49	27903											
LTBP1	0	.	GRCh38	chr2	32947468	32947468	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccttgcccctgagcgggccCccgcgttcgcggacattcaa	5	7	12	17	5	1	1	1	1	0	0	2	2	1	2	5	2	2	1	5	2	1	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.144C>A	p.=	p.P48P	ENST00000404816	1/34	102	89	13	147	147	0	strelka-varscan	LTBP1,synonymous_variant,p.=,ENST00000404816,NM_206943.2;Y_RNA,upstream_gene_variant,,ENST00000384224,;	A	ENST00000404816	Transcript	synonymous_variant	497/6333	144/5166	48/1721	P	ccC/ccA		1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2			1/34		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	84	32947468	32947468	C	A	1	0	0	0	0	0	0	0	1	8979	610	22	2		2	LTBP1	2	32947468	Silent	SNP	C	C3N-01842_TP	6762997	32947468	209246061	50	27904											
PRKD3	0	.	GRCh38	chr2	37279827	37279827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatcttatcttctgggggtGatggctcttctgtgtcatcc	5	16	10	10	0	6	1	1	1	5	0	7	1	7	1	1	3	0	1	1	3	1	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1091C>T	p.Ser364Leu	p.S364L	ENST00000379066	8/19	233	184	49	213	212	1	strelka-varscan	PRKD3,missense_variant,p.Ser364Leu,ENST00000379066,;PRKD3,missense_variant,p.Ser364Leu,ENST00000234179,NM_005813.4;PRKD3,non_coding_transcript_exon_variant,,ENST00000494667,;PRKD3,upstream_gene_variant,,ENST00000469275,;PRKD3,downstream_gene_variant,,ENST00000475912,;	A	ENST00000379066	Transcript	missense_variant	1854/6111	1091/2673	364/890	S/L	tCa/tTa		1		-1	PRKD3	HGNC	HGNC:9408	protein_coding	YES	CCDS1789.1	ENSP00000368356	O94806		UPI0000035B4D		tolerated(0.15)		8/19		PIRSF_domain:PIRSF000552,hmmpanther:PTHR22968,hmmpanther:PTHR22968:SF11																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	84	37279827	37279827	G	A	1	0	0	0	0	1	0	0	0	12653	1294	45	3		3	PRKD3	2	37279827	Missense_Mutation	SNP	G	C3N-01842_TP	4332359	37279827	204913702	51	27905											
KCNG3	0	.	GRCh38	chr2	42444320	42444320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcaaaccgagtgtctgaaGaccaatgaagtgacgggcaa	15	6	12	8	2	2	4	1	3	1	1	2	5	2	4	2	1	1	1	2	1	5	0	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.925C>T	p.Leu309Phe	p.L309F	ENST00000306078	2/2	423	322	101	421	421	0	strelka-varscan	KCNG3,missense_variant,p.Leu309Phe,ENST00000306078,NM_133329.5;KCNG3,missense_variant,p.Leu298Phe,ENST00000394973,NM_172344.2;SNORD75,downstream_gene_variant,,ENST00000408373,;	A	ENST00000306078	Transcript	missense_variant	1521/3824	925/1311	309/436	L/F	Ctt/Ttt		1		-1	KCNG3	HGNC	HGNC:18306	protein_coding	YES	CCDS1809.1	ENSP00000304127	Q8TAE7		UPI00000557D9	NM_133329.5	deleterious(0)		2/2		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF91,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	42444320	42444320	G	A	1	0	0	0	0	1	0	0	0	7945	942	33	3		3	KCNG3	2	42444320	Missense_Mutation	SNP	G	C3N-01842_TP	5164493	42444320	199749209	52	27906											
PAPOLG	0	.	GRCh38	chr2	60783163	60783163	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaattcttcagacattatAtagtattgactgccagcgca	14	12	7	8	1	2	2	1	1	1	1	2	3	2	2	1	0	2	2	1	0	6	7	rs374307901		C3N-01842_TP	C3N-01842_NB	A	A																c.1120A>T	p.Ile374Leu	p.I374L	ENST00000238714	13/22	114	92	22	111	111	0	strelka-varscan	PAPOLG,missense_variant,p.Ile42Leu,ENST00000412217,;PAPOLG,missense_variant,p.Ile374Leu,ENST00000238714,NM_022894.3;PAPOLG,non_coding_transcript_exon_variant,,ENST00000483370,;PAPOLG,3_prime_UTR_variant,,ENST00000414060,;PAPOLG,3_prime_UTR_variant,,ENST00000453839,;PAPOLG,non_coding_transcript_exon_variant,,ENST00000496283,;	T	ENST00000238714	Transcript	missense_variant	1369/4263	1120/2211	374/736	I/L	Ata/Tta	rs374307901	1		1	PAPOLG	HGNC	HGNC:14982	protein_coding	YES	CCDS1863.1	ENSP00000238714	Q9BWT3		UPI00000704EB	NM_022894.3	deleterious(0.03)		13/22		hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF6,Gene3D:3.30.70.590,Pfam_domain:PF04926,Superfamily_domains:SSF55003																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	60783163	60783163	A	T	1	0	0	0	0	1	0	0	0	11511	449	16	4		4	PAPOLG	2	60783163	Missense_Mutation	SNP	A	C3N-01842_TP	18338843	60783163	181410366	53	27907											
ALMS1	0	.	GRCh38	chr2	73448289	73448289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagcattttctaccagcagGgcttgccagacagtcatcta	10	10	8	13	0	3	1	1	0	2	1	3	1	3	1	3	1	4	3	3	1	2	5	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1762G>T	p.Gly588Cys	p.G588C	ENST00000613296	8/23	302	232	70	352	350	2	strelka-varscan-mutect	ALMS1,missense_variant,p.Gly588Cys,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Gly546Cys,ENST00000484298,;ALMS1,missense_variant,p.Gly588Cys,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000620466,;ALMS1,upstream_gene_variant,,ENST00000423048,;	T	ENST00000613296	Transcript	missense_variant	1873/12925	1762/12507	588/4168	G/C	Ggc/Tgc		1		1	ALMS1	HGNC	HGNC:428	protein_coding	YES	CCDS42697.1	ENSP00000482968		A0A087WZY3	UPI00046209B2	NM_015120.4	tolerated(0.06)		8/23		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22																	MODERATE	1	SNV	1			1										PASS		rs1367898096	.												T	3	4	84	73448289	73448289	G	T	1	0	0	0	0	1	0	0	0	635	1232	43	2		2	ALMS1	2	73448289	Missense_Mutation	SNP	G	C3N-01842_TP	12665126	73448289	168745240	54	27908											
CNNM4	0	.	GRCh38	chr2	96761302	96761302	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggtggacgatgccgagacCctccacaagtccaccagctg	10	5	12	14	2	0	1	0	0	0	1	2	5	2	2	5	2	2	1	5	2	1	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.303C>T	p.=	p.T101T	ENST00000377075	1/7	289	229	60	342	342	0	strelka-varscan-mutect	CNNM4,synonymous_variant,p.=,ENST00000377075,NM_020184.3;	T	ENST00000377075	Transcript	synonymous_variant	401/4800	303/2328	101/775	T	acC/acT		1		1	CNNM4	HGNC	HGNC:105	protein_coding	YES	CCDS2024.2	ENSP00000366275	Q6P4Q7		UPI0000207C95	NM_020184.3			1/7		hmmpanther:PTHR12064,hmmpanther:PTHR12064:SF26																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	84	96761302	96761302	C	T	1	0	0	0	0	0	0	0	1	3395	610	22	3		3	CNNM4	2	96761302	Silent	SNP	C	C3N-01842_TP	23313013	96761302	145432227	55	27909											
TBC1D8	0	.	GRCh38	chr2	101050643	101050643	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggaaccacaagtttaacTgtaagagaaaagggtgaaat	18	7	10	6	1	0	2	0	1	0	1	0	4	0	3	1	2	2	2	1	2	7	3	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.587-2A>C		p.X196_splice	ENST00000376840		136	106	30	143	143	0	strelka-varscan-mutect	TBC1D8,splice_acceptor_variant,,ENST00000409318,;TBC1D8,splice_acceptor_variant,,ENST00000376840,NM_001102426.1;	G	ENST00000376840	Transcript	splice_acceptor_variant	-/3627	587/3423	196/1140				1		-1	TBC1D8	HGNC	HGNC:17791	protein_coding	YES	CCDS46375.1	ENSP00000366036	O95759		UPI00015ADD19	NM_001102426.1				4/19																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	84	101050643	101050643	T	G	1	0	0	0	0	0	0	1	0	16030	1594	55	5		5	TBC1D8	2	101050643	Splice_Site	SNP	T	C3N-01842_TP	4289341	101050643	141142886	56	27910											
SLC9A2	0	.	GRCh38	chr2	102704575	102704575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacagacacagtctgacagCcgacacaagtgagagacaag	17	3	10	11	1	1	4	0	2	1	2	1	6	1	4	1	0	2	0	1	0	3	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1877C>A	p.Ala626Asp	p.A626D	ENST00000233969	10/12	334	253	81	319	319	0	strelka-varscan-mutect	SLC9A2,missense_variant,p.Ala626Asp,ENST00000233969,NM_003048.4;SLC9A2,downstream_gene_variant,,ENST00000469286,;	A	ENST00000233969	Transcript	missense_variant	2019/5410	1877/2439	626/812	A/D	gCc/gAc		1		1	SLC9A2	HGNC	HGNC:11072	protein_coding	YES	CCDS2062.1	ENSP00000233969	Q9UBY0		UPI000012FD21	NM_003048.4	tolerated(0.5)		10/12		hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF89,Pfam_domain:PF16644,TIGRFAM_domain:TIGR00840,Prints_domain:PR01086																	MODERATE	1	SNV	1			1										PASS		rs1393376411	.												A	3	1	84	102704575	102704575	C	A	1	0	0	0	0	1	0	0	0	14994	739	26	2		2	SLC9A2	2	102704575	Missense_Mutation	SNP	C	C3N-01842_TP	1653932	102704575	139488954	57	27911											
POU3F3	0	.	GRCh38	chr2	104856767	104856767	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaggtgagcgtcaagggCgcgctggagagccacttcct	8	7	15	11	4	1	2	1	1	0	1	3	4	2	2	2	3	2	1	2	3	1	1			C3N-01842_TP	C3N-01842_NB	C	C																c.1257C>G	p.=	p.G419G	ENST00000361360	1/1	328	263	65	343	343	0	strelka-varscan-mutect	POU3F3,synonymous_variant,p.=,ENST00000361360,NM_006236.1;RP11-13J10.1,intron_variant,,ENST00000598623,;LINC01158,upstream_gene_variant,,ENST00000447876,;	G	ENST00000361360	Transcript	synonymous_variant	1257/3064	1257/1503	419/500	G	ggC/ggG	COSM4716744	1		1	POU3F3	HGNC	HGNC:9216	protein_coding	YES	CCDS33265.1	ENSP00000355001	P20264		UPI0000131D87	NM_006236.1			1/1		Gene3D:1.10.10.60,Pfam_domain:PF00046,PIRSF_domain:PIRSF002629,Prints_domain:PR00028,PROSITE_profiles:PS50071,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF73,SMART_domains:SM00389,Superfamily_domains:SSF46689											1						LOW		SNV			1	1										PASS		.	.												G	2	3	84	104856767	104856767	C	G	1	0	0	0	0	0	0	0	1	12392	755	27	4		4	POU3F3	2	104856767	Silent	SNP	C	C3N-01842_TP	2152192	104856767	137336762	58	27912											
GPR45	0	.	GRCh38	chr2	105242317	105242317	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggccaaggtgatcatcgcGgtctcctgggtgctgtcctt	5	11	14	11	2	2	1	1	1	1	0	5	1	3	1	3	4	1	1	3	4	1	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.459G>T	p.=	p.A153A	ENST00000258456	1/1	360	283	77	382	382	0	strelka-varscan-mutect	GPR45,synonymous_variant,p.=,ENST00000258456,NM_007227.3;	T	ENST00000258456	Transcript	synonymous_variant	575/1307	459/1119	153/372	A	gcG/gcT		1		1	GPR45	HGNC	HGNC:4503	protein_coding	YES	CCDS2066.1	ENSP00000258456	Q9Y5Y3	B5B0C1	UPI000013CFD3	NM_007227.3			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF4,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		rs1287925511	.												T	2	4	84	105242317	105242317	G	T	1	0	0	0	0	0	0	0	1	6581	1103	39	1		1	GPR45	2	105242317	Silent	SNP	G	C3N-01842_TP	385550	105242317	136951212	59	27913											
NT5DC4	0	.	GRCh38	chr2	112721850	112721857	+	Frame_Shift_Del	DEL	AGATTCGT	AGATTCGT	-																															ccgcagcctggcgctggggaAgattcgttgctttggcttcg																								novel		C3N-01842_TP	C3N-01842_NB	AGATTCGT	AGATTCGT																c.44_51delAGATTCGT	p.Lys15MetfsTer19	p.K15Mfs*19	ENST00000327581	2/17	406	362	44	588	588	0	sindel-varindel-pindel	NT5DC4,frameshift_variant,p.Lys15MetfsTer19,ENST00000327581,;NT5DC4,upstream_gene_variant,,ENST00000497526,;NT5DC4,non_coding_transcript_exon_variant,,ENST00000484666,;NT5DC4,upstream_gene_variant,,ENST00000462854,;NT5DC4,upstream_gene_variant,,ENST00000470675,;	-	ENST00000327581	Transcript	frameshift_variant	95-102/1767	44-51/1287	15-17/428	KIR/X	aAGATTCGT/a		1		1	NT5DC4	HGNC	HGNC:27678	protein_coding	YES		ENSP00000330247	Q86YG4		UPI0000197313				2/17		hmmpanther:PTHR12103,hmmpanther:PTHR12103:SF18,Gene3D:3.40.50.1000,Pfam_domain:PF05761,PIRSF_domain:PIRSF017434,TIGRFAM_domain:TIGR02244,Superfamily_domains:SSF56784																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	84	112721850	112721850	AGATTCGT	-	1	0	1	0	1	0	0	0	0	10756	72	3	0		0	NT5DC4	2	112721850	Frame_Shift_Del	DEL	AGATTCGT	C3N-01842_TP	7479533	112721850	129471679	60	27914											
DPP10	0	.	GRCh38	chr2	115753238	115753238	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtaagatggttaaacCgagctcagaacatctccatc	12	10	9	10	1	2	2	1	0	1	2	4	3	2	2	2	2	3	3	2	2	4	2			C3N-01842_TP	C3N-01842_NB	C	C																c.1027C>G	p.Arg343Gly	p.R343G	ENST00000393147	11/26	251	214	37	209	209	0	strelka-varscan-mutect	DPP10,missense_variant,p.Arg339Gly,ENST00000410059,NM_001321910.1,NM_001321911.1,NM_001321914.1,NM_001321905.1,NM_001321906.1,NM_020868.3;DPP10,missense_variant,p.Arg289Gly,ENST00000409163,NM_001178036.1,NM_001178037.1;DPP10,missense_variant,p.Arg332Gly,ENST00000310323,NM_001004360.3;DPP10,missense_variant,p.Arg343Gly,ENST00000393147,NM_001178034.1;	G	ENST00000393147	Transcript	missense_variant	1382/2758	1027/2403	343/800	R/G	Cga/Gga	COSM1250643,COSM1250644,COSM5471268,COSM5471269	1		1	DPP10	HGNC	HGNC:20823	protein_coding	YES	CCDS54388.1	ENSP00000376855	Q8N608		UPI00015E0A22	NM_001178034.1	deleterious(0)		11/26		hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Gene3D:2.140.10.30,Pfam_domain:PF00930,Superfamily_domains:SSF82171											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												G	3	3	84	115753238	115753238	C	G	1	0	0	0	0	1	0	0	0	4542	644	23	4		4	DPP10	2	115753238	Missense_Mutation	SNP	C	C3N-01842_TP	3031388	115753238	126440291	61	27915											
CNTNAP5	0	.	GRCh38	chr2	124242303	124242303	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggccacgcagggaagataCggaagctctgactgggtgac	10	6	16	9	2	1	3	0	2	1	1	1	5	1	5	1	4	2	2	1	4	3	1	rs369801109		C3N-01842_TP	C3N-01842_NB	C	C																c.291C>A	p.Tyr97Ter	p.Y97*	ENST00000431078	3/24	330	255	75	403	402	1	strelka-varscan-mutect	CNTNAP5,stop_gained,p.Tyr97Ter,ENST00000431078,NM_130773.3;CNTNAP5,non_coding_transcript_exon_variant,,ENST00000470921,;	A	ENST00000431078	Transcript	stop_gained	655/5284	291/3921	97/1306	Y/*	taC/taA	rs369801109,COSM3041875	1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3			3/24		PROSITE_profiles:PS50022,Gene3D:2.60.120.260,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs369801109	.												A	4	1	84	124242303	124242303	C	A	1	0	0	0	0	0	1	0	0	3432	547	19	1		1	CNTNAP5	2	124242303	Nonsense_Mutation	SNP	C	C3N-01842_TP	8489065	124242303	117951226	62	27916											
CNTNAP5	0	.	GRCh38	chr2	124763798	124763798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttgcgttgctatggtgaCcgtgagtacaaaatcgaaag	11	10	11	9	3	0	2	0	2	0	0	1	3	0	2	2	1	3	3	2	1	5	4	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.2358C>A	p.Asp786Glu	p.D786E	ENST00000431078	15/24	198	159	39	185	185	0	strelka-varscan-mutect	CNTNAP5,missense_variant,p.Asp786Glu,ENST00000431078,NM_130773.3;	A	ENST00000431078	Transcript	missense_variant,splice_region_variant	2722/5284	2358/3921	786/1306	D/E	gaC/gaA		1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3	deleterious(0.01)		15/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF665,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	124763798	124763798	C	A	1	0	0	0	0	1	0	0	0	3432	521	18	2		2	CNTNAP5	2	124763798	Missense_Mutation	SNP	C	C3N-01842_TP	521495	124763798	117429731	63	27917											
LIMS2	0	.	GRCh38	chr2	127639321	127639321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccttgggctgggccttgCgggaggtcagctccgacagc	4	8	17	12	2	1	0	1	0	0	0	2	2	2	1	3	5	3	2	3	5	0	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1058G>T	p.Arg353Leu	p.R353L	ENST00000324938	10/10	216	158	58	252	252	0	strelka-varscan-mutect	LIMS2,missense_variant,p.Arg324Leu,ENST00000409455,;LIMS2,missense_variant,p.Arg324Leu,ENST00000410011,NM_001161404.1;LIMS2,missense_variant,p.Arg324Leu,ENST00000409808,;LIMS2,missense_variant,p.Arg353Leu,ENST00000324938,NM_017980.4;LIMS2,missense_variant,p.Arg329Leu,ENST00000355119,NM_001161403.1;LIMS2,missense_variant,p.Arg351Leu,ENST00000545738,NM_001136037.2;LIMS2,missense_variant,p.Arg177Leu,ENST00000410038,NM_001256542.1;LIMS2,missense_variant,p.Arg177Leu,ENST00000409286,;LIMS2,missense_variant,p.Arg177Leu,ENST00000409754,;LIMS2,missense_variant,p.Arg157Leu,ENST00000426981,;LIMS2,missense_variant,p.Arg177Leu,ENST00000409254,;MYO7B,downstream_gene_variant,,ENST00000428314,NM_001080527.1;MYO7B,downstream_gene_variant,,ENST00000409816,;MYO7B,downstream_gene_variant,,ENST00000409090,;LIMS2,non_coding_transcript_exon_variant,,ENST00000494613,;LIMS2,downstream_gene_variant,,ENST00000582671,;LIMS2,3_prime_UTR_variant,,ENST00000413578,;LIMS2,non_coding_transcript_exon_variant,,ENST00000469300,;LIMS2,non_coding_transcript_exon_variant,,ENST00000466410,;LIMS2,non_coding_transcript_exon_variant,,ENST00000476932,;LIMS2,non_coding_transcript_exon_variant,,ENST00000484252,;MYO7B,downstream_gene_variant,,ENST00000496841,;MYO7B,downstream_gene_variant,,ENST00000491278,;MYO7B,downstream_gene_variant,,ENST00000494959,;	A	ENST00000324938	Transcript	missense_variant	1216/2111	1058/1098	353/365	R/L	cGc/cTc		1		-1	LIMS2	HGNC	HGNC:16084	protein_coding	YES	CCDS2147.1	ENSP00000326888	Q7Z4I7		UPI00001B5BF3	NM_017980.4	deleterious(0)		10/10		Low_complexity_(Seg):seg,hmmpanther:PTHR24210:SF10,hmmpanther:PTHR24210,PIRSF_domain:PIRSF038003																	MODERATE	1	SNV	1			1										PASS		rs1178000923	.												A	3	1	84	127639321	127639321	C	A	1	0	0	0	0	1	0	0	0	8712	768	27	1		1	LIMS2	2	127639321	Missense_Mutation	SNP	C	C3N-01842_TP	2875523	127639321	114554208	64	27918											
GPR148	0	.	GRCh38	chr2	130730088	130730088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtactcatgatgcttcccCgtgccatgctcacatacctg	8	11	8	14	1	2	1	2	1	0	0	3	1	3	1	4	1	5	3	4	1	2	3	rs147627830		C3N-01842_TP	C3N-01842_NB	C	C																c.937C>A	p.Arg313Ser	p.R313S	ENST00000309926	1/1	127	93	34	94	94	0	strelka-varscan-mutect	GPR148,missense_variant,p.Arg313Ser,ENST00000309926,NM_207364.2;	A	ENST00000309926	Transcript	missense_variant	1019/1267	937/1044	313/347	R/S	Cgt/Agt	rs147627830,COSM715808	1		1	GPR148	HGNC	HGNC:23623	protein_coding	YES	CCDS2163.1	ENSP00000308908	Q8TDV2		UPI0000048E0D	NM_207364.2	deleterious(0.02)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs147627830	.												A	3	1	84	130730088	130730088	C	A	1	0	0	0	0	1	0	0	0	6539	652	23	1		1	GPR148	2	130730088	Missense_Mutation	SNP	C	C3N-01842_TP	3090767	130730088	111463441	65	27919											
LRP1B	0	.	GRCh38	chr2	141049110	141049110	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaaagcacgagggtttacCagattttctatggggatcat	11	13	10	7	1	3	1	1	0	2	1	3	3	3	2	1	3	2	2	1	3	4	6	rs763729515		C3N-01842_TP	C3N-01842_NB	C	C																c.1665G>T	p.=	p.L555L	ENST00000389484	11/91	423	330	93	411	411	0	strelka-varscan-mutect	LRP1B,synonymous_variant,p.=,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	A	ENST00000389484	Transcript	synonymous_variant	2637/16535	1665/13800	555/4599	L	ctG/ctT	rs763729515	1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2			11/91		Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	LOW	1	SNV	1			1										PASS		rs763729515	.												A	2	1	84	141049110	141049110	C	A	1	0	0	0	0	0	0	0	1	8850	581	21	2		2	LRP1B	2	141049110	Silent	SNP	C	C3N-01842_TP	10319022	141049110	101144419	66	27920											
KCNH7	0	.	GRCh38	chr2	162400257	162400257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataagaaataaagtgcaGtgaggacatccccacagtga	16	7	11	7	0	0	3	0	2	0	1	1	5	1	5	2	2	1	1	2	2	4	2	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.2339C>A	p.Thr780Asn	p.T780N	ENST00000332142	10/16	379	308	71	412	412	0	strelka-varscan-mutect	KCNH7,missense_variant,p.Thr780Asn,ENST00000332142,NM_033272.3;KCNH7,missense_variant,p.Thr680Asn,ENST00000618399,;	T	ENST00000332142	Transcript	missense_variant	2439/4113	2339/3591	780/1196	T/N	aCt/aAt		1		-1	KCNH7	HGNC	HGNC:18863	protein_coding	YES	CCDS2219.1	ENSP00000331727	Q9NS40		UPI0000167D11	NM_033272.3	tolerated(0.06)		10/16		PROSITE_profiles:PS50042,hmmpanther:PTHR10217:SF466,hmmpanther:PTHR10217,Pfam_domain:PF00027,Gene3D:2.60.120.10,SMART_domains:SM00100,Superfamily_domains:SSF51206																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	162400257	162400257	G	T	1	0	0	0	0	1	0	0	0	7953	1029	36	2		2	KCNH7	2	162400257	Missense_Mutation	SNP	G	C3N-01842_TP	21351147	162400257	79793272	67	27921											
HOXD13	0	.	GRCh38	chr2	176092940	176092940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggctgcgggcagacggcgGgggcgccggtggcgccccgg	2	2	23	14	8	0	1	0	0	0	1	0	1	0	1	3	8	1	2	3	8	0	0	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.50G>T	p.Gly17Val	p.G17V	ENST00000392539	1/2	64	49	15	66	66	0	strelka-varscan-mutect	HOXD13,missense_variant,p.Gly17Val,ENST00000392539,NM_000523.3;	T	ENST00000392539	Transcript	missense_variant	50/2240	50/1032	17/343	G/V	gGg/gTg		1		1	HOXD13	HGNC	HGNC:5136	protein_coding	YES	CCDS2264.2	ENSP00000376322	P35453		UPI000020912A	NM_000523.3	tolerated_low_confidence(0.28)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF182,hmmpanther:PTHR24326																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	84	176092940	176092940	G	T	1	0	0	0	0	1	0	0	0	7216	1232	43	2		2	HOXD13	2	176092940	Missense_Mutation	SNP	G	C3N-01842_TP	13692683	176092940	66100589	68	27922											
TTN	0	.	GRCh38	chr2	178601751	178601751	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgagatcgtttacactccgGaataataattactgaggagt	14	12	9	6	2	0	2	0	2	0	1	2	5	1	4	1	2	2	1	1	2	5	5	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.55339C>A	p.Pro18447Thr	p.P18447T	ENST00000589042	286/363	142	113	29	111	111	0	strelka-varscan-mutect	TTN,missense_variant,p.Pro18447Thr,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Pro16806Thr,ENST00000591111,;TTN,missense_variant,p.Pro16806Thr,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Pro15879Thr,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Pro9382Thr,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Pro9574Thr,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Pro9507Thr,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000610290,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000592689,;TTN-AS1,downstream_gene_variant,,ENST00000629117,;TTN-AS1,downstream_gene_variant,,ENST00000590932,;TTN-AS1,downstream_gene_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000626517,;	T	ENST00000589042	Transcript	missense_variant	55564/109224	55339/107976	18447/35991	P/T	Ccg/Acg		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			286/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	84	178601751	178601751	G	T	1	0	0	0	0	1	0	0	0	17245	1174	41	2		2	TTN	2	178601751	Missense_Mutation	SNP	G	C3N-01842_TP	2508811	178601751	63591778	69	27923											
TTN	0	.	GRCh38	chr2	178610097	178610097	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaaacttacgctttggAtcttgagcaatgactggatt	10	14	9	8	1	1	2	0	2	1	0	2	4	2	4	1	2	3	2	1	2	3	4	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.51429T>C	p.=	p.D17143D	ENST00000589042	271/363	546	416	130	431	431	0	strelka-varscan-mutect	TTN,synonymous_variant,p.=,ENST00000589042,NM_001267550.2;TTN,synonymous_variant,p.=,ENST00000591111,;TTN,synonymous_variant,p.=,ENST00000615779,NM_001256850.1;TTN,synonymous_variant,p.=,ENST00000342992,NM_133378.4;TTN,synonymous_variant,p.=,ENST00000460472,NM_003319.4;TTN,synonymous_variant,p.=,ENST00000342175,NM_133437.4;TTN,synonymous_variant,p.=,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000627527,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000610290,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000419746,;	G	ENST00000589042	Transcript	synonymous_variant	51654/109224	51429/107976	17143/35991	D	gaT/gaC		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			271/363		Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	LOW		SNV	5			1										PASS		.	.												G	2	3	84	178610097	178610097	A	G	1	0	0	0	0	0	0	0	1	17245	330	12	5		5	TTN	2	178610097	Silent	SNP	A	C3N-01842_TP	8346	178610097	63583432	70	27924											
ZNF804A	0	.	GRCh38	chr2	184937087	184937087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagaaaagtataattttaCtaaaagtcaaataaaacagg	23	9	5	4	0	1	1	1	0	0	1	1	1	1	1	0	1	3	1	0	1	11	6	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1691C>T	p.Thr564Ile	p.T564I	ENST00000302277	4/4	170	141	29	102	102	0	strelka-varscan-mutect	ZNF804A,missense_variant,p.Thr564Ile,ENST00000302277,NM_194250.1;ZNF804A,missense_variant,p.Thr479Ile,ENST00000613975,;	T	ENST00000302277	Transcript	missense_variant	2285/4690	1691/3630	564/1209	T/I	aCt/aTt		1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1	tolerated(0.14)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	184937087	184937087	C	T	1	0	0	0	0	1	0	0	0	18755	565	20	3		3	ZNF804A	2	184937087	Missense_Mutation	SNP	C	C3N-01842_TP	6326990	184937087	57256442	71	27925											
FSIP2	0	.	GRCh38	chr2	185802023	185802023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaagtatagtaagccgaagCccaattatgattgaccaaat	18	9	7	7	1	0	2	0	2	0	0	0	3	0	2	3	0	2	2	3	0	9	5	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.12984C>A	p.Ser4328Arg	p.S4328R	ENST00000343098	17/23	164	125	39	92	92	0	strelka-varscan-mutect	FSIP2,missense_variant,p.Ser4328Arg,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Ser4239Arg,ENST00000424728,;FSIP2,upstream_gene_variant,,ENST00000611759,;FSIP2-AS1,upstream_gene_variant,,ENST00000436557,;FSIP2-AS1,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;	A	ENST00000343098	Transcript	missense_variant	12984/21054	12984/20991	4328/6996	S/R	agC/agA		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	deleterious(0.02)		17/23		Pfam_domain:PF15783,hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	84	185802023	185802023	C	A	1	0	0	0	0	1	0	0	0	5949	738	26	2		2	FSIP2	2	185802023	Missense_Mutation	SNP	C	C3N-01842_TP	864936	185802023	56391506	72	27926											
FAM126B	0	.	GRCh38	chr2	201022927	201022927	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggtgatctgagtgtcaggTaatgcctaaaagaaaccacc	13	9	10	9	0	2	3	1	2	1	1	2	3	2	3	3	2	2	1	3	2	4	2	rs372235427		C3N-01842_TP	C3N-01842_NB	T	T																c.57A>G	p.=	p.L19L	ENST00000418596	4/12	231	182	49	232	232	0	strelka-varscan-mutect	FAM126B,synonymous_variant,p.=,ENST00000418596,NM_001321619.1,NM_001321629.1,NM_001321618.1,NM_001321622.1,NM_001321621.1,NM_173822.3;FAM126B,synonymous_variant,p.=,ENST00000452799,;FAM126B,synonymous_variant,p.=,ENST00000453765,;FAM126B,synonymous_variant,p.=,ENST00000446678,;FAM126B,upstream_gene_variant,,ENST00000485144,;FAM126B,synonymous_variant,p.=,ENST00000286181,;FAM126B,non_coding_transcript_exon_variant,,ENST00000498780,;FAM126B,non_coding_transcript_exon_variant,,ENST00000474118,;FAM126B,non_coding_transcript_exon_variant,,ENST00000485636,;FAM126B,downstream_gene_variant,,ENST00000494881,;	C	ENST00000418596	Transcript	synonymous_variant	245/9333	57/1593	19/530	L	ttA/ttG	rs372235427,COSM237361	1		-1	FAM126B	HGNC	HGNC:28593	protein_coding	YES	CCDS2335.1	ENSP00000393667	Q8IXS8		UPI0000074347	NM_001321619.1,NM_001321629.1,NM_001321618.1,NM_001321622.1,NM_001321621.1,NM_173822.3			4/12		hmmpanther:PTHR31220,hmmpanther:PTHR31220:SF3											0,1						LOW	1	SNV	1		0,1	1										PASS		rs372235427	.												C	2	2	84	201022927	201022927	T	C	1	0	0	0	0	0	0	0	1	5282	1652	57	5		5	FAM126B	2	201022927	Silent	SNP	T	C3N-01842_TP	15220904	201022927	41170602	73	27927											
NBEAL1	0	.	GRCh38	chr2	203209190	203209190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgattatacataccattcaGaaaggtcagtacatgaggac	15	10	9	7	0	2	3	2	2	0	1	2	4	2	4	1	2	3	1	1	2	5	5	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.7566G>T	p.Gln2522His	p.Q2522H	ENST00000449802	52/55	131	98	33	155	155	0	strelka-varscan-mutect	NBEAL1,missense_variant,p.Gln2522His,ENST00000449802,NM_001114132.1;NBEAL1,missense_variant,p.Gln537His,ENST00000414576,;NBEAL1,missense_variant,p.Gln50His,ENST00000434469,;	T	ENST00000449802	Transcript	missense_variant	7899/10938	7566/8085	2522/2694	Q/H	caG/caT		1		1	NBEAL1	HGNC	HGNC:20681	protein_coding	YES	CCDS46495.1	ENSP00000399903	Q6ZS30		UPI000194EC27	NM_001114132.1	deleterious(0)		52/55		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	5			1										PASS		rs1014402003	.												T	3	4	84	203209190	203209190	G	T	1	0	0	0	0	1	0	0	0	10199	933	33	2		2	NBEAL1	2	203209190	Missense_Mutation	SNP	G	C3N-01842_TP	2186263	203209190	38984339	74	27928											
ZDBF2	0	.	GRCh38	chr2	206307640	206307640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagaatgataaatgtagtGgttctgaaataattttggat	16	14	9	2	0	1	3	0	2	1	1	1	4	1	4	0	2	0	2	0	2	7	6	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.3112G>T	p.Gly1038Cys	p.G1038C	ENST00000374423	5/5	232	179	53	169	169	0	strelka-varscan-mutect	ZDBF2,missense_variant,p.Gly1038Cys,ENST00000374423,NM_020923.2;ZDBF2,missense_variant,p.Gly1036Cys,ENST00000611847,NM_001285549.1;	T	ENST00000374423	Transcript	missense_variant	3498/10286	3112/7065	1038/2354	G/C	Ggt/Tgt		1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2	tolerated(0.07)		5/5		hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	206307640	206307640	G	T	1	0	0	0	0	1	0	0	0	18174	1348	47	2		2	ZDBF2	2	206307640	Missense_Mutation	SNP	G	C3N-01842_TP	3098450	206307640	35885889	75	27929											
SMARCAL1	0	.	GRCh38	chr2	216438462	216438462	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagtaggactgcccgctgtCgagcagctatgccggtccta	8	8	12	13	3	0	0	0	0	0	0	2	2	1	1	3	2	4	4	3	2	3	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1687C>T	p.Arg563Ter	p.R563*	ENST00000357276	10/18	631	485	146	751	750	1	strelka-varscan-mutect	SMARCAL1,stop_gained,p.Arg563Ter,ENST00000357276,NM_014140.3;SMARCAL1,stop_gained,p.Arg563Ter,ENST00000358207,NM_001127207.1;SMARCAL1,stop_gained,p.Arg121Ter,ENST00000445153,;SMARCAL1,intron_variant,,ENST00000392128,;	T	ENST00000357276	Transcript	stop_gained	2017/3271	1687/2865	563/954	R/*	Cga/Tga		1		1	SMARCAL1	HGNC	HGNC:11102	protein_coding	YES	CCDS2403.1	ENSP00000349823	Q9NZC9		UPI000000DA30	NM_014140.3			10/18		PROSITE_profiles:PS51192,hmmpanther:PTHR10799:SF731,hmmpanther:PTHR10799,Pfam_domain:PF00176,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540,Superfamily_domains:SSF52540																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	84	216438462	216438462	C	T	1	0	0	0	0	0	1	0	0	15066	876	31	1		1	SMARCAL1	2	216438462	Nonsense_Mutation	SNP	C	C3N-01842_TP	10130822	216438462	25755067	76	27930											
IGFBP2	0	.	GRCh38	chr2	216660583	216660583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgatgaccactcagaaggaGgcctggtggagaaccacgtg	11	5	15	10	2	1	3	1	1	0	2	1	6	1	4	3	4	1	0	3	4	2	0	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.469G>T	p.Gly157Cys	p.G157C	ENST00000233809	2/4	142	104	38	121	121	0	strelka-varscan-mutect	IGFBP2,missense_variant,p.Gly157Cys,ENST00000233809,NM_000597.2;IGFBP2,missense_variant,p.Gly13Cys,ENST00000456764,;IGFBP2,5_prime_UTR_variant,,ENST00000434997,;IGFBP2,upstream_gene_variant,,ENST00000436812,;IGFBP2,non_coding_transcript_exon_variant,,ENST00000490362,;	T	ENST00000233809	Transcript	missense_variant	598/1439	469/978	157/325	G/C	Ggc/Tgc		1		1	IGFBP2	HGNC	HGNC:5471	protein_coding	YES	CCDS42815.1	ENSP00000233809	P18065		UPI000013C98D	NM_000597.2	tolerated(0.07)		2/4		hmmpanther:PTHR11551:SF5,hmmpanther:PTHR11551																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	216660583	216660583	G	T	1	0	0	0	0	1	0	0	0	7485	1000	35	2		2	IGFBP2	2	216660583	Missense_Mutation	SNP	G	C3N-01842_TP	222121	216660583	25532946	77	27931											
CFAP65	0	.	GRCh38	chr2	219019549	219019549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgagctcacagggggtggGgtcacgctccaagtaactgt	8	8	16	9	1	2	1	2	1	0	0	3	1	3	1	1	5	2	3	1	5	2	1	rs750313270		C3N-01842_TP	C3N-01842_NB	G	G																c.3430C>A	p.Pro1144Thr	p.P1144T	ENST00000341552	20/35	223	175	48	254	254	0	strelka-varscan-mutect	CFAP65,missense_variant,p.Pro1144Thr,ENST00000341552,NM_194302.3;CFAP65,missense_variant,p.Pro1144Thr,ENST00000453220,;CFAP65,missense_variant,p.Pro53Thr,ENST00000413871,;AC097468.4,downstream_gene_variant,,ENST00000441450,;	T	ENST00000341552	Transcript	missense_variant	3514/5953	3430/5778	1144/1925	P/T	Ccc/Acc	rs750313270	1		-1	CFAP65	HGNC	HGNC:25325	protein_coding	YES	CCDS2430.2	ENSP00000340776	Q6ZU64		UPI0000609097	NM_194302.3	deleterious(0)		20/35		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF223																	MODERATE		SNV	5			1										PASS		rs750313270	.												T	3	4	84	219019549	219019549	G	T	1	0	0	0	0	1	0	0	0	3029	1232	43	2		2	CFAP65	2	219019549	Missense_Mutation	SNP	G	C3N-01842_TP	2358966	219019549	23173980	78	27932											
PTPRN	0	.	GRCh38	chr2	219302769	219302769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgctgggcagcaggggcgGagccagtggggatgtcctgt	6	7	20	8	1	0	0	0	0	0	0	1	3	1	2	2	6	3	3	2	6	0	0	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.446C>A	p.Ser149Tyr	p.S149Y	ENST00000295718	5/23	253	192	61	322	321	1	strelka-varscan-mutect	PTPRN,missense_variant,p.Ser149Tyr,ENST00000295718,NM_002846.3;PTPRN,missense_variant,p.Ser149Tyr,ENST00000409251,NM_001199763.1;PTPRN,missense_variant,p.Ser59Tyr,ENST00000423636,NM_001199764.1;PTPRN,missense_variant,p.Ser59Tyr,ENST00000446182,;PTPRN,missense_variant,p.Ser116Tyr,ENST00000440552,;PTPRN,missense_variant,p.Ser59Tyr,ENST00000412847,;PTPRN,missense_variant,p.Ser59Tyr,ENST00000442029,;PTPRN,missense_variant,p.Ser59Tyr,ENST00000451506,;AC114803.3,intron_variant,,ENST00000417355,;PTPRN,downstream_gene_variant,,ENST00000468454,;PTPRN,3_prime_UTR_variant,,ENST00000606213,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,non_coding_transcript_exon_variant,,ENST00000476930,;PTPRN,downstream_gene_variant,,ENST00000477819,;PTPRN,upstream_gene_variant,,ENST00000489650,;PTPRN,upstream_gene_variant,,ENST00000486480,;PTPRN,downstream_gene_variant,,ENST00000484986,;	T	ENST00000295718	Transcript	missense_variant	687/3784	446/2940	149/979	S/Y	tCc/tAc		1		-1	PTPRN	HGNC	HGNC:9676	protein_coding	YES	CCDS2440.1	ENSP00000295718	Q16849		UPI0000132999	NM_002846.3	tolerated(0.85)		5/23		Pfam_domain:PF14948,SMART_domains:SM01305																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	219302769	219302769	G	T	1	0	0	0	0	1	0	0	0	12961	1174	41	2		2	PTPRN	2	219302769	Missense_Mutation	SNP	G	C3N-01842_TP	283220	219302769	22890760	79	27933											
SLC4A3	0	.	GRCh38	chr2	219629278	219629278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaggagaaaacctctgctCctccctccgaggggacccct	10	6	10	15	1	1	2	0	0	1	2	4	5	4	3	6	3	2	1	6	3	3	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.352C>A	p.Pro118Thr	p.P118T	ENST00000273063	4/23	135	108	27	122	122	0	strelka-varscan-mutect	SLC4A3,missense_variant,p.Pro118Thr,ENST00000358055,NM_005070.3;SLC4A3,missense_variant,p.Pro118Thr,ENST00000273063,NM_001326559.1,NM_201574.2;SLC4A3,missense_variant,p.Pro118Thr,ENST00000373760,;SLC4A3,missense_variant,p.Pro118Thr,ENST00000317151,;SLC4A3,upstream_gene_variant,,ENST00000413743,;AC009955.8,upstream_gene_variant,,ENST00000455896,;SLC4A3,non_coding_transcript_exon_variant,,ENST00000497589,;SLC4A3,missense_variant,p.Pro118Thr,ENST00000425141,;SLC4A3,upstream_gene_variant,,ENST00000416910,;SLC4A3,upstream_gene_variant,,ENST00000444906,;	A	ENST00000273063	Transcript	missense_variant	566/4246	352/3780	118/1259	P/T	Cct/Act		1		1	SLC4A3	HGNC	HGNC:11029	protein_coding	YES	CCDS2446.1	ENSP00000273063	P48751		UPI000022BE50	NM_001326559.1,NM_201574.2	tolerated_low_confidence(0.07)		4/23																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	219629278	219629278	C	A	1	0	0	0	0	1	0	0	0	14932	855	30	2		2	SLC4A3	2	219629278	Missense_Mutation	SNP	C	C3N-01842_TP	326509	219629278	22564251	80	27934											
SLC19A3	0	.	GRCh38	chr2	227702222	227702222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaatatgggataaggaatgGttctgagggtctcatcatgg	12	12	13	4	0	3	1	2	1	2	0	4	3	3	3	0	5	0	1	0	5	5	4	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.97C>A	p.Pro33Thr	p.P33T	ENST00000258403	2/6	456	367	89	422	420	2	strelka-varscan-mutect	SLC19A3,missense_variant,p.Pro33Thr,ENST00000258403,NM_025243.3;SLC19A3,missense_variant,p.Pro33Thr,ENST00000419059,;SLC19A3,missense_variant,p.Pro33Thr,ENST00000409287,;SLC19A3,missense_variant,p.Pro33Thr,ENST00000409456,;SLC19A3,missense_variant,p.Pro33Thr,ENST00000456524,;SLC19A3,missense_variant,p.Pro33Thr,ENST00000425817,;SLC19A3,missense_variant,p.Pro33Thr,ENST00000431622,;SLC19A3,non_coding_transcript_exon_variant,,ENST00000477697,;	T	ENST00000258403	Transcript	missense_variant	169/3105	97/1491	33/496	P/T	Cca/Aca		1		-1	SLC19A3	HGNC	HGNC:16266	protein_coding	YES	CCDS2468.1	ENSP00000258403	Q9BZV2		UPI000004DAE9	NM_025243.3	deleterious(0)		2/6		hmmpanther:PTHR10686:SF17,hmmpanther:PTHR10686,PIRSF_domain:PIRSF028739,PIRSF_domain:PIRSF500795,Gene3D:1.20.1250.20,Pfam_domain:PF01770,TIGRFAM_domain:TIGR00806,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	227702222	227702222	G	T	1	0	0	0	0	1	0	0	0	14696	1261	44	2		2	SLC19A3	2	227702222	Missense_Mutation	SNP	G	C3N-01842_TP	8072944	227702222	14491307	81	27935											
NGEF	0	.	GRCh38	chr2	232892965	232892965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgtagacagagaagtGgtcggccgcataacggtaca	12	7	15	7	3	0	3	0	1	0	2	1	4	0	3	1	4	2	3	1	4	4	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1075C>T	p.His359Tyr	p.H359Y	ENST00000264051	7/15	183	139	44	246	246	0	strelka-varscan-mutect	NGEF,missense_variant,p.His359Tyr,ENST00000264051,NM_019850.2;NGEF,missense_variant,p.His267Tyr,ENST00000373552,NM_001114090.1;NGEF,missense_variant,p.His82Tyr,ENST00000416114,;NGEF,downstream_gene_variant,,ENST00000409079,;NGEF,upstream_gene_variant,,ENST00000424488,;NGEF,non_coding_transcript_exon_variant,,ENST00000420650,;NGEF,upstream_gene_variant,,ENST00000461944,;	A	ENST00000264051	Transcript	missense_variant	1354/3215	1075/2133	359/710	H/Y	Cac/Tac		1		-1	NGEF	HGNC	HGNC:7807	protein_coding	YES	CCDS2500.1	ENSP00000264051	Q8N5V2		UPI000013D4AE	NM_019850.2	tolerated(0.63)		7/15		PROSITE_profiles:PS50010,hmmpanther:PTHR12845:SF8,hmmpanther:PTHR12845,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	232892965	232892965	G	A	1	0	0	0	0	1	0	0	0	10430	1348	47	3		3	NGEF	2	232892965	Missense_Mutation	SNP	G	C3N-01842_TP	5190743	232892965	9300564	82	27936											
IQSEC1	0	.	GRCh38	chr3	12924601	12924601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgagcacgtcacggttgaaCtgcttctgccggttgcccag	6	10	12	13	4	2	1	1	1	1	0	3	2	2	1	2	2	5	4	2	2	1	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1710G>T	p.Gln570His	p.Q570H	ENST00000613206	4/14	49	33	16	111	111	0	strelka-varscan-mutect	IQSEC1,missense_variant,p.Gln584His,ENST00000273221,NM_014869.6;IQSEC1,missense_variant,p.Gln462His,ENST00000618604,;IQSEC1,missense_variant,p.Gln570His,ENST00000613206,NM_001134382.2;	A	ENST00000613206	Transcript	missense_variant	1813/3582	1710/3345	570/1114	Q/H	caG/caT		1		-1	IQSEC1	HGNC	HGNC:29112	protein_coding	YES	CCDS74902.1	ENSP00000480301		A0A087WWK8	UPI00017E10F8	NM_001134382.2	deleterious(0)		4/14		PROSITE_profiles:PS50190,hmmpanther:PTHR10663:SF63,hmmpanther:PTHR10663,Gene3D:1.10.220.20,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	84	12924601	12924601	C	A	1	0	0	0	0	1	0	0	0	7723	564	20	2		2	IQSEC1	3	12924601	Missense_Mutation	SNP	C	C3N-01842_TP		12924601	185370958	83	27937											
TOP2B	0	.	GRCh38	chr3	25609584	25609584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaccaggctccttcttctcCctcttaggtttgggaccttt	4	16	7	14	0	4	0	1	0	3	0	6	1	5	1	4	3	0	2	4	3	1	5	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.3900G>T	p.Arg1300Ser	p.R1300S	ENST00000435706	29/36	252	189	63	321	319	2	strelka-varscan	TOP2B,missense_variant,p.Arg1300Ser,ENST00000435706,NM_001068.3;TOP2B,missense_variant,p.Arg1305Ser,ENST00000264331,;TOP2B,downstream_gene_variant,,ENST00000475717,;TOP2B,3_prime_UTR_variant,,ENST00000413971,;	A	ENST00000435706	Transcript	missense_variant	4102/5389	3900/4866	1300/1621	R/S	agG/agT		1		-1	TOP2B	HGNC	HGNC:11990	protein_coding	YES	CCDS46776.1	ENSP00000396704	Q02880		UPI000002B59A	NM_001068.3	tolerated(0.05)		29/36		Low_complexity_(Seg):seg,hmmpanther:PTHR10169:SF36,hmmpanther:PTHR10169																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	25609584	25609584	C	A	1	0	0	0	0	1	0	0	0	16842	622	22	2		2	TOP2B	3	25609584	Missense_Mutation	SNP	C	C3N-01842_TP	12684983	25609584	172685975	84	27938											
SCN10A	0	.	GRCh38	chr3	38698326	38698326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccagcctcccacctcaCatggggaaagctggacatac	11	6	10	14	0	1	0	1	0	0	0	2	3	2	2	4	3	4	1	4	3	2	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.4894G>C	p.Val1632Leu	p.V1632L	ENST00000449082	27/27	333	233	100	494	494	0	strelka-varscan	SCN10A,missense_variant,p.Val1632Leu,ENST00000449082,NM_001293306.2,NM_006514.3,NM_001293307.2;	G	ENST00000449082	Transcript	missense_variant	4894/6418	4894/5871	1632/1956	V/L	Gtg/Ctg		1		-1	SCN10A	HGNC	HGNC:10582	protein_coding	YES	CCDS33736.1	ENSP00000390600	Q9Y5Y9		UPI0000209BDA	NM_001293306.2,NM_006514.3,NM_001293307.2	deleterious(0.03)		27/27		hmmpanther:PTHR10037:SF208,hmmpanther:PTHR10037,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	38698326	38698326	C	G	1	0	0	0	0	1	0	0	0	14181	478	17	4		4	SCN10A	3	38698326	Missense_Mutation	SNP	C	C3N-01842_TP	13088742	38698326	159597233	85	27939											
EPHA6	0	.	GRCh38	chr3	96987376	96987376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataataggcccattcacaCataccaggtatgtaatgtaa	16	10	6	9	0	1	0	1	0	0	0	1	0	1	0	2	2	1	3	2	2	6	7	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.497C>A	p.Thr166Lys	p.T166K	ENST00000389672	3/18	198	116	82	147	147	0	strelka-varscan	EPHA6,missense_variant,p.Thr166Lys,ENST00000389672,NM_001080448.2;EPHA6,missense_variant,p.Thr166Lys,ENST00000470610,;EPHA6,missense_variant,p.Thr111Lys,ENST00000506569,NM_001278301.1;	A	ENST00000389672	Transcript	missense_variant	535/3971	497/3393	166/1130	T/K	aCa/aAa		1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2	deleterious(0)		3/18		Gene3D:2.60.120.260,Pfam_domain:PF01404,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,SMART_domains:SM00615,Superfamily_domains:SSF49785																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	84	96987376	96987376	C	A	1	0	0	0	0	1	0	0	0	5018	478	17	2		2	EPHA6	3	96987376	Missense_Mutation	SNP	C	C3N-01842_TP	58289050	96987376	101308183	86	27940											
FILIP1L	0	.	GRCh38	chr3	99850274	99850274	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttctagctctttgatccTtacttttaaactctccagtt	7	18	5	11	0	3	1	0	1	3	0	5	1	4	1	2	1	3	3	2	1	4	7	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.1402A>G	p.Arg468Gly	p.R468G	ENST00000354552	5/6	480	387	93	294	293	1	strelka-varscan	FILIP1L,missense_variant,p.Arg468Gly,ENST00000331335,NM_001042459.2;FILIP1L,missense_variant,p.Arg468Gly,ENST00000354552,NM_182909.3;FILIP1L,missense_variant,p.Arg228Gly,ENST00000383694,NM_014890.3;FILIP1L,missense_variant,p.Arg228Gly,ENST00000495625,;FILIP1L,missense_variant,p.Arg228Gly,ENST00000471562,NM_001282794.1;FILIP1L,missense_variant,p.Arg44Gly,ENST00000487087,NM_001282793.1;CMSS1,intron_variant,,ENST00000421999,NM_032359.3;CMSS1,intron_variant,,ENST00000463526,;FILIP1L,upstream_gene_variant,,ENST00000477258,;CMSS1,intron_variant,,ENST00000496116,;FILIP1L,intron_variant,,ENST00000476723,;CMSS1,intron_variant,,ENST00000491299,;	C	ENST00000354552	Transcript	missense_variant	1873/3970	1402/3408	468/1135	R/G	Agg/Ggg		1		-1	FILIP1L	HGNC	HGNC:24589	protein_coding	YES	CCDS43117.1	ENSP00000346560	Q4L180		UPI00001B24B2	NM_182909.3	deleterious(0)		5/6		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	84	99850274	99850274	T	C	1	0	0	0	0	1	0	0	0	5758	1608	56	5		5	FILIP1L	3	99850274	Missense_Mutation	SNP	T	C3N-01842_TP	2862898	99850274	98445285	87	27941											
TOMM70	0	.	GRCh38	chr3	100365612	100365612	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctttgcaacttctgtctgGgcatgggcggcatcgcaaag	7	12	12	10	2	3	0	0	0	3	0	4	0	3	0	0	3	2	4	0	3	2	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1779C>G	p.=	p.A593A	ENST00000284320	12/12	319	208	111	330	330	0	strelka-varscan	TOMM70,synonymous_variant,p.=,ENST00000284320,NM_014820.4;NIT2,downstream_gene_variant,,ENST00000394140,NM_020202.4;	C	ENST00000284320	Transcript	synonymous_variant	2228/4409	1779/1827	593/608	A	gcC/gcG		1		-1	TOMM70	HGNC	HGNC:11985	protein_coding	YES	CCDS33807.1	ENSP00000284320	O94826		UPI0000000C55	NM_014820.4			12/12		hmmpanther:PTHR22904:SF375,hmmpanther:PTHR22904,Superfamily_domains:SSF48452																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	84	100365612	100365612	G	C	1	0	0	0	0	0	0	0	1	16837	1219	43	4		4	TOMM70	3	100365612	Silent	SNP	G	C3N-01842_TP	515338	100365612	97929947	88	27942											
AC026348.1	0	.	GRCh38	chr3	113366135	113366135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgctccagcagtcacCaagaaacgatcatcaaagct	14	7	6	14	1	4	1	3	0	1	1	5	2	5	1	3	0	4	3	3	0	3	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.2619G>T	p.Leu873Phe	p.L873F	ENST00000393845	18/34	459	315	144	312	312	0	strelka-varscan	AC026348.1,missense_variant,p.Leu873Phe,ENST00000393845,NM_001164496.1;CFAP44,missense_variant,p.Leu10Phe,ENST00000465636,;CFAP44,missense_variant,p.Leu873Phe,ENST00000295868,NM_018338.3;CFAP44,intron_variant,,ENST00000488854,;CFAP44,upstream_gene_variant,,ENST00000490481,;RP11-553D4.2,downstream_gene_variant,,ENST00000462549,;	A	ENST00000393845	Transcript	missense_variant	2619/5565	2619/5565	873/1854	L/F	ttG/ttT		1		-1	AC026348.1	Clone_based_ensembl_gene		protein_coding	YES	CCDS54624.1	ENSP00000377428	Q96MT7		UPI0000367198	NM_001164496.1	deleterious(0.04)		18/34		hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	84	113366135	113366135	C	A	1	0	0	0	0	1	0	0	0	128	593	21	2		2	AC026348.1	3	113366135	Missense_Mutation	SNP	C	C3N-01842_TP	13000523	113366135	84929424	89	27943											
POGLUT1	0	.	GRCh38	chr3	119477416	119477416	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcaggttcctaaatggatgGagcctgccatcccagtcttc	8	11	9	13	0	2	0	1	0	1	0	5	2	4	2	4	3	2	1	4	3	2	3			C3N-01842_TP	C3N-01842_NB	G	G																c.424G>T	p.Glu142Ter	p.E142*	ENST00000295588	4/11	268	181	87	257	257	0	strelka-varscan	POGLUT1,stop_gained,p.Glu142Ter,ENST00000295588,NM_152305.2;POGLUT1,stop_gained,p.Glu129Ter,ENST00000476573,;POGLUT1,stop_gained,p.Glu142Ter,ENST00000486607,;POGLUT1,stop_gained,p.Glu142Ter,ENST00000497447,;POGLUT1,downstream_gene_variant,,ENST00000460339,;POGLUT1,upstream_gene_variant,,ENST00000481043,;	T	ENST00000295588	Transcript	stop_gained	508/3533	424/1179	142/392	E/*	Gag/Tag	COSM4829026	1		1	POGLUT1	HGNC	HGNC:22954	protein_coding	YES	CCDS2988.1	ENSP00000295588	Q8NBL1		UPI000003B0C3	NM_152305.2			4/11		Pfam_domain:PF05686,hmmpanther:PTHR12203,hmmpanther:PTHR12203:SF34,SMART_domains:SM00672											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	84	119477416	119477416	G	T	1	0	0	0	0	0	1	0	0	12295	1175	41	2		2	POGLUT1	3	119477416	Nonsense_Mutation	SNP	G	C3N-01842_TP	6111281	119477416	78818143	90	27944											
KALRN	0	.	GRCh38	chr3	124398712	124398712	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggactcggctgtgtcCaacaacaaaacaccccacag	14	4	8	15	1	0	0	0	0	0	0	2	1	1	1	3	2	3	1	3	2	4	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.2181C>A	p.=	p.S727S	ENST00000240874	13/34	439	372	67	435	435	0	strelka-varscan	KALRN,synonymous_variant,p.=,ENST00000360013,NM_001024660.3;KALRN,synonymous_variant,p.=,ENST00000354186,;KALRN,synonymous_variant,p.=,ENST00000240874,NM_003947.4;KALRN,synonymous_variant,p.=,ENST00000460856,NM_001322989.1;KALRN,downstream_gene_variant,,ENST00000439170,;KALRN,non_coding_transcript_exon_variant,,ENST00000393501,;KALRN,non_coding_transcript_exon_variant,,ENST00000484224,;KALRN,non_coding_transcript_exon_variant,,ENST00000522553,;	A	ENST00000240874	Transcript	synonymous_variant	2338/6537	2181/4992	727/1663	S	tcC/tcA		1		1	KALRN	HGNC	HGNC:4814	protein_coding	YES	CCDS3027.1	ENSP00000240874	O60229		UPI000012C095	NM_003947.4			13/34		Gene3D:1.20.58.60,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,SMART_domains:SM00150,Superfamily_domains:SSF46966																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	124398712	124398712	C	A	1	0	0	0	0	0	0	0	1	7884	581	21	2		2	KALRN	3	124398712	Silent	SNP	C	C3N-01842_TP	4921296	124398712	73896847	91	27945											
UMPS	0	.	GRCh38	chr3	124737695	124737695	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaggagggcttgaaggtCactgatgccatagtgctgtt	10	10	14	7	0	1	3	1	2	0	1	1	4	1	4	1	3	2	3	1	3	3	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.438C>T	p.=	p.V146V	ENST00000232607	3/6	662	542	120	577	577	0	strelka-varscan	UMPS,synonymous_variant,p.=,ENST00000232607,NM_000373.3;UMPS,non_coding_transcript_exon_variant,,ENST00000498715,;UMPS,upstream_gene_variant,,ENST00000495751,;UMPS,synonymous_variant,p.=,ENST00000479719,;UMPS,3_prime_UTR_variant,,ENST00000467167,;UMPS,3_prime_UTR_variant,,ENST00000460034,;UMPS,3_prime_UTR_variant,,ENST00000462091,;UMPS,3_prime_UTR_variant,,ENST00000497791,;UMPS,intron_variant,,ENST00000474588,;UMPS,upstream_gene_variant,,ENST00000487622,;RP11-71H17.1,upstream_gene_variant,,ENST00000475510,;	T	ENST00000232607	Transcript	synonymous_variant	544/6738	438/1443	146/480	V	gtC/gtT		1		1	UMPS	HGNC	HGNC:12563	protein_coding	YES	CCDS3029.1	ENSP00000232607	P11172	A8K5J1	UPI0000001223	NM_000373.3			3/6		HAMAP:MF_01208,hmmpanther:PTHR19278,hmmpanther:PTHR19278:SF9,Gene3D:3.40.50.2020,TIGRFAM_domain:TIGR00336,Pfam_domain:PF00156,Superfamily_domains:SSF53271																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	84	124737695	124737695	C	T	1	0	0	0	0	0	0	0	1	17505	813	29	3		3	UMPS	3	124737695	Silent	SNP	C	C3N-01842_TP	338983	124737695	73557864	92	27946											
UROC1	0	.	GRCh38	chr3	126508040	126508040	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgggtgcccactgtacAtgaccaaagtctgctcctct	9	10	9	13	0	2	1	0	1	2	0	3	1	3	1	3	1	3	2	3	1	3	1	rs761278178		C3N-01842_TP	C3N-01842_NB	A	A																c.467T>A	p.Met156Lys	p.M156K	ENST00000383579	5/21	488	377	111	487	486	1	strelka-varscan	UROC1,missense_variant,p.Met156Lys,ENST00000290868,NM_144639.2;UROC1,missense_variant,p.Met156Lys,ENST00000383579,NM_001165974.1;	T	ENST00000383579	Transcript	missense_variant	501/2735	467/2211	156/736	M/K	aTg/aAg	rs761278178	1		-1	UROC1	HGNC	HGNC:26444	protein_coding	YES	CCDS54636.1	ENSP00000373073	Q96N76		UPI0000480109	NM_001165974.1	deleterious(0)		5/21		Gene3D:1x87B01,HAMAP:MF_00577,Pfam_domain:PF01175,hmmpanther:PTHR12216,hmmpanther:PTHR12216:SF3,Superfamily_domains:SSF111326																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	126508040	126508040	A	T	1	0	0	0	0	1	0	0	0	17560	217	8	4		4	UROC1	3	126508040	Missense_Mutation	SNP	A	C3N-01842_TP	1770345	126508040	71787519	93	27947											
COL6A5	0	.	GRCh38	chr3	130440614	130440614	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagctggagaaaattatgaGagaaaagaatttgtaaaaat	20	10	9	2	0	1	4	1	1	0	3	1	6	1	4	0	1	1	2	0	1	9	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.6264G>A	p.=	p.E2088E	ENST00000265379	36/43	266	196	70	228	228	0	strelka-varscan	COL6A5,synonymous_variant,p.=,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,synonymous_variant,p.=,ENST00000512836,;COL6A5,synonymous_variant,p.=,ENST00000373157,;COL6A5,upstream_gene_variant,,ENST00000512482,;COL6A5,synonymous_variant,p.=,ENST00000312481,;	A	ENST00000265379	Transcript	synonymous_variant	6758/9214	6264/7836	2088/2611	E	gaG/gaA		1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1			36/43		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF133,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	84	130440614	130440614	G	A	1	0	0	0	0	0	0	0	1	3491	933	33	3		3	COL6A5	3	130440614	Silent	SNP	G	C3N-01842_TP	3932574	130440614	67854945	94	27948											
STAG1	0	.	GRCh38	chr3	136521216	136521216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatgttaattacttaccagCcagggtacttgtatgcctaa	13	13	7	8	0	0	0	0	0	0	0	0	0	0	0	3	1	5	3	3	1	7	7	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.673G>T	p.Ala225Ser	p.A225S	ENST00000383202	7/34	368	310	58	282	280	2	strelka-varscan	STAG1,missense_variant,p.Ala225Ser,ENST00000383202,NM_005862.2;STAG1,missense_variant,p.Ala225Ser,ENST00000236698,;STAG1,missense_variant,p.Ala225Ser,ENST00000480733,;STAG1,5_prime_UTR_variant,,ENST00000434713,;STAG1,3_prime_UTR_variant,,ENST00000629124,;STAG1,3_prime_UTR_variant,,ENST00000483235,;STAG1,3_prime_UTR_variant,,ENST00000487065,;STAG1,non_coding_transcript_exon_variant,,ENST00000462818,;	A	ENST00000383202	Transcript	missense_variant	930/6055	673/3777	225/1258	A/S	Gct/Tct		1		-1	STAG1	HGNC	HGNC:11354	protein_coding	YES	CCDS3090.1	ENSP00000372689	Q8WVM7		UPI000020A2DE	NM_005862.2	deleterious(0)		7/34		Pfam_domain:PF08514,hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF6,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	136521216	136521216	C	A	1	0	0	0	0	1	0	0	0	15620	753	26	2		2	STAG1	3	136521216	Missense_Mutation	SNP	C	C3N-01842_TP	6080602	136521216	61774343	95	27949											
COPB2	0	.	GRCh38	chr3	139383346	139383346	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccattgtaaagacttgcCaacatccatggctctgtagg	10	11	9	11	0	1	1	0	0	1	1	2	1	2	1	3	2	3	3	3	2	4	4	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.93G>T	p.Leu31Phe	p.L31F	ENST00000333188	2/22	346	222	124	223	223	0	strelka-varscan	COPB2,missense_variant,p.Leu31Phe,ENST00000333188,NM_004766.2;COPB2,missense_variant,p.Leu2Phe,ENST00000507777,;COPB2,missense_variant,p.Leu2Phe,ENST00000512242,;COPB2,missense_variant,p.Leu2Phe,ENST00000513274,;COPB2,missense_variant,p.Leu2Phe,ENST00000514508,;COPB2,missense_variant,p.Leu2Phe,ENST00000512153,;COPB2,missense_variant,p.Leu31Phe,ENST00000515006,;U6,upstream_gene_variant,,ENST00000637379,;COPB2,non_coding_transcript_exon_variant,,ENST00000510491,;COPB2,non_coding_transcript_exon_variant,,ENST00000504295,;COPB2,non_coding_transcript_exon_variant,,ENST00000510181,;	A	ENST00000333188	Transcript	missense_variant	275/3360	93/2721	31/906	L/F	ttG/ttT		1		-1	COPB2	HGNC	HGNC:2232	protein_coding	YES	CCDS3108.1	ENSP00000329419	P35606		UPI0000161FB4	NM_004766.2	deleterious(0)		2/22		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19876,PIRSF_domain:PIRSF005567,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	139383346	139383346	C	A	1	0	0	0	0	1	0	0	0	3521	593	21	2		2	COPB2	3	139383346	Missense_Mutation	SNP	C	C3N-01842_TP	2862130	139383346	58912213	96	27950											
HLTF	0	.	GRCh38	chr3	149064833	149064834	+	Frame_Shift_Ins	INS	-	-	A																															tcactggtattgtttcctccINSaagtttcatagagtcatcgt																								novel		C3N-01842_TP	C3N-01842_NB	-	-																c.1023dupT	p.Gly342TrpfsTer7	p.G342Wfs*7	ENST00000310053	9/25	302	212	90	235	235	0	sindel-varindel-pindel	HLTF,frameshift_variant,p.Gly342TrpfsTer7,ENST00000310053,NM_001318934.1,NM_003071.3,NM_139048.2;HLTF,frameshift_variant,p.Gly342TrpfsTer7,ENST00000465259,;HLTF,frameshift_variant,p.Gly342TrpfsTer7,ENST00000392912,;HLTF,frameshift_variant,p.Gly342TrpfsTer7,ENST00000494055,;HLTF,upstream_gene_variant,,ENST00000493881,;	A	ENST00000310053	Transcript	frameshift_variant	1217-1218/5317	1023-1024/3030	341-342/1009	-/X	-/T		1		-1	HLTF	HGNC	HGNC:11099	protein_coding	YES	CCDS33875.1	ENSP00000308944	Q14527		UPI0000161FA7	NM_001318934.1,NM_003071.3,NM_139048.2			9/25		Pfam_domain:PF00176,SMART_domains:SM00487																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	84	149064833	149064833	-	A	1	0	1	1	0	0	0	0	0	7105	603	21	0		0	HLTF	3	149064833	Frame_Shift_Ins	INS	-	C3N-01842_TP	9681487	149064833	49230726	97	27951											
GFM1	0	.	GRCh38	chr3	158646186	158646186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaggtaaagatggagttGgtgctgtcatggattccatg	11	12	14	4	0	1	2	1	1	0	1	2	4	2	4	1	4	1	3	1	4	3	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.256G>T	p.Gly86Cys	p.G86C	ENST00000264263	3/19	379	223	156	396	396	0	strelka-varscan	GFM1,missense_variant,p.Gly86Cys,ENST00000486715,NM_024996.5;GFM1,missense_variant,p.Gly86Cys,ENST00000264263,NM_001308164.1;GFM1,missense_variant,p.Gly86Cys,ENST00000478576,NM_001308166.1;GFM1,missense_variant,p.Gly11Cys,ENST00000464732,;LXN,synonymous_variant,p.=,ENST00000482640,;GFM1,missense_variant,p.Gly86Cys,ENST00000478254,;GFM1,upstream_gene_variant,,ENST00000478251,;	T	ENST00000264263	Transcript	missense_variant	294/3453	256/2313	86/770	G/C	Ggt/Tgt		1		1	GFM1	HGNC	HGNC:13780	protein_coding	YES	CCDS77851.1	ENSP00000264263	Q96RP9		UPI0001B78F61	NM_001308164.1	deleterious(0)		3/19		PROSITE_profiles:PS51722,HAMAP:MF_00054_B,hmmpanther:PTHR23115:SF162,hmmpanther:PTHR23115,TIGRFAM_domain:TIGR00231,TIGRFAM_domain:TIGR00484,Gene3D:3.40.50.300,Pfam_domain:PF00009,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	84	158646186	158646186	G	T	1	0	0	0	0	1	0	0	0	6215	1348	47	2		2	GFM1	3	158646186	Missense_Mutation	SNP	G	C3N-01842_TP	9581353	158646186	39649373	98	27952											
SI	0	.	GRCh38	chr3	164982257	164982257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttaccatgttggtagtgtCttcattaaaaggaagcgaat	13	13	9	6	1	2	0	1	0	1	0	2	2	2	1	1	2	2	2	1	2	6	5	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.5401G>A	p.Asp1801Asn	p.D1801N	ENST00000264382	47/48	300	252	48	222	222	0	strelka-varscan	SI,missense_variant,p.Asp1801Asn,ENST00000264382,NM_001041.3;	T	ENST00000264382	Transcript	missense_variant	5464/6011	5401/5484	1801/1827	D/N	Gac/Aac		1		-1	SI	HGNC	HGNC:10856	protein_coding	YES	CCDS3196.1	ENSP00000264382	P14410		UPI000022C287	NM_001041.3	tolerated(0.56)		47/48																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	164982257	164982257	C	T	1	0	0	0	0	1	0	0	0	14561	913	32	3		3	SI	3	164982257	Missense_Mutation	SNP	C	C3N-01842_TP	6336071	164982257	33313302	99	27953											
PDCD10	0	.	GRCh38	chr3	167704896	167704896	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagatttactcgttctagCtgcaataaaaattttaaatt	15	15	5	6	1	1	1	0	0	1	1	2	2	1	1	0	0	3	3	0	0	8	8	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.97-1G>T		p.X33_splice	ENST00000392750		342	282	60	286	286	0	strelka-varscan	PDCD10,splice_acceptor_variant,,ENST00000392750,NM_007217.3;PDCD10,splice_acceptor_variant,,ENST00000473645,NM_145859.1;PDCD10,splice_acceptor_variant,,ENST00000497056,NM_145860.1;PDCD10,splice_acceptor_variant,,ENST00000470131,;PDCD10,splice_acceptor_variant,,ENST00000461494,;PDCD10,splice_acceptor_variant,,ENST00000475915,;PDCD10,splice_acceptor_variant,,ENST00000492396,;PDCD10,splice_acceptor_variant,,ENST00000471885,;PDCD10,splice_acceptor_variant,,ENST00000487947,;PDCD10,splice_acceptor_variant,,ENST00000462725,;PDCD10,splice_acceptor_variant,,ENST00000492139,;PDCD10,splice_acceptor_variant,,ENST00000464360,;PDCD10,splice_acceptor_variant,,ENST00000479121,;PDCD10,splice_acceptor_variant,,ENST00000483451,;PDCD10,splice_acceptor_variant,,ENST00000494502,;PDCD10,splice_acceptor_variant,,ENST00000481136,;	A	ENST00000392750	Transcript	splice_acceptor_variant	-/2067	97/639	33/212				1		-1	PDCD10	HGNC	HGNC:8761	protein_coding	YES	CCDS3202.1	ENSP00000376506	Q9BUL8		UPI0000071E33	NM_007217.3				3/8																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	84	167704896	167704896	C	A	1	0	0	0	0	0	0	1	0	11704	811	28	2		2	PDCD10	3	167704896	Splice_Site	SNP	C	C3N-01842_TP	2722639	167704896	30590663	100	27954											
SOX2	0	.	GRCh38	chr3	181712903	181712904	+	Frame_Shift_Ins	INS	-	-	C																															aggaccagctgggctacccgINScagcacccgggcctcaatgc																								novel		C3N-01842_TP	C3N-01842_NB	-	-																c.544dupC	p.Gln182ProfsTer128	p.Q182Pfs*128	ENST00000325404	1/1	206	161	45	216	216	0	sindel-varindel-pindel	SOX2,frameshift_variant,p.Gln182ProfsTer128,ENST00000325404,NM_003106.3;SOX2-OT,intron_variant,,ENST00000498731,;SOX2-OT,intron_variant,,ENST00000492337,;SOX2-OT,intron_variant,,ENST00000493521,;SOX2-OT,intron_variant,,ENST00000466034,;SOX2-OT,intron_variant,,ENST00000630553,;SOX2-OT,intron_variant,,ENST00000477928,;SOX2-OT,intron_variant,,ENST00000491282,;SOX2-OT,intron_variant,,ENST00000627530,;SOX2-OT,intron_variant,,ENST00000597828,;SOX2-OT,intron_variant,,ENST00000595084,;SOX2-OT,intron_variant,,ENST00000599082,;SOX2-OT,intron_variant,,ENST00000628496,;SOX2-OT,intron_variant,,ENST00000600386,;SOX2-OT,intron_variant,,ENST00000627501,;SOX2-OT,intron_variant,,ENST00000600778,;SOX2-OT,intron_variant,,ENST00000629112,;SOX2-OT,intron_variant,,ENST00000593549,;SOX2-OT,intron_variant,,ENST00000630887,;SOX2-OT,intron_variant,,ENST00000628343,;SOX2-OT,intron_variant,,ENST00000629781,;SOX2-OT,intron_variant,,ENST00000627738,;SOX2-OT,intron_variant,,ENST00000629830,;SOX2-OT,intron_variant,,ENST00000600801,;SOX2-OT,intron_variant,,ENST00000626619,;SOX2-OT,intron_variant,,ENST00000597651,;SOX2-OT,intron_variant,,ENST00000626299,;SOX2-OT,intron_variant,,ENST00000628810,;SOX2-OT,intron_variant,,ENST00000596250,;SOX2-OT,intron_variant,,ENST00000476964,;SOX2-OT,intron_variant,,ENST00000595287,;SOX2-OT,intron_variant,,ENST00000629552,;SOX2-OT,intron_variant,,ENST00000469278,;SOX2-OT,intron_variant,,ENST00000498226,;SOX2-OT,intron_variant,,ENST00000598474,;SOX2-OT,intron_variant,,ENST00000593330,;SOX2-OT,downstream_gene_variant,,ENST00000476125,;SOX2-OT,downstream_gene_variant,,ENST00000631025,;SOX2-OT,downstream_gene_variant,,ENST00000600962,;SOX2OT_exon4,upstream_gene_variant,,ENST00000610449,;	C	ENST00000325404	Transcript	frameshift_variant	980-981/2513	543-544/954	181-182/317	-/X	-/C		1		1	SOX2	HGNC	HGNC:11195	protein_coding	YES	CCDS3239.1	ENSP00000323588	P48431	A0A0U3FYV6	UPI000003F545	NM_003106.3			1/1		hmmpanther:PTHR10270:SF231,hmmpanther:PTHR10270,Pfam_domain:PF12336																	HIGH		insertion		1		1										PASS		.	.												C	7	5	84	181712903	181712903	-	C	1	0	1	1	0	0	0	0	0	15275	1074	38	0		0	SOX2	3	181712903	Frame_Shift_Ins	INS	-	C3N-01842_TP	14008007	181712903	16582656	101	27955											
ECE2	0	.	GRCh38	chr3	184277977	184277977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagaagacacagcgcttCtacctatcttgcctacaggt	11	9	9	12	1	2	2	0	0	2	2	2	3	2	2	2	1	5	2	2	1	4	5	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.885C>A	p.Phe295Leu	p.F295L	ENST00000402825	5/19	244	206	38	305	305	0	strelka-varscan	ECE2,missense_variant,p.Phe295Leu,ENST00000402825,NM_014693.3;ECE2,missense_variant,p.Phe177Leu,ENST00000404464,NM_001100121.1;ECE2,missense_variant,p.Phe148Leu,ENST00000359140,NM_001037324.2;ECE2,missense_variant,p.Phe223Leu,ENST00000357474,NM_001100120.1;ECE2,missense_variant,p.Phe169Leu,ENST00000430587,;ECE2,3_prime_UTR_variant,,ENST00000422932,;ECE2,non_coding_transcript_exon_variant,,ENST00000488401,;ECE2,non_coding_transcript_exon_variant,,ENST00000490579,;ECE2,downstream_gene_variant,,ENST00000474750,;ECE2,upstream_gene_variant,,ENST00000462596,;	A	ENST00000402825	Transcript	missense_variant	885/3445	885/2652	295/883	F/L	ttC/ttA		1		1	ECE2	HGNC	HGNC:13275	protein_coding	YES	CCDS3256.2	ENSP00000384223	O60344		UPI0001596888	NM_014693.3	tolerated(0.75)		5/19		Pfam_domain:PF05649,hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF127,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	184277977	184277977	C	A	1	0	0	0	0	1	0	0	0	4716	912	32	2		2	ECE2	3	184277977	Missense_Mutation	SNP	C	C3N-01842_TP	2565074	184277977	14017582	102	27956											
WHSC1	0	.	GRCh38	chr4	1956181	1956181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagggatcggaagagtcttCaaaaacggtacggagatatt	15	8	13	5	3	2	3	1	0	1	3	3	6	2	5	0	4	2	1	0	4	5	4	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.2874C>G	p.Phe958Leu	p.F958L	ENST00000382895	17/24	107	72	35	162	162	0	strelka-varscan-mutect	WHSC1,missense_variant,p.Phe958Leu,ENST00000382895,NM_133330.2;WHSC1,missense_variant,p.Phe958Leu,ENST00000382892,NM_133331.2;WHSC1,missense_variant,p.Phe958Leu,ENST00000382891,NM_133335.3;WHSC1,missense_variant,p.Phe958Leu,ENST00000508803,NM_001042424.2;WHSC1,missense_variant,p.Phe306Leu,ENST00000382888,;WHSC1,missense_variant,p.Phe282Leu,ENST00000514329,;WHSC1,non_coding_transcript_exon_variant,,ENST00000482415,;WHSC1,non_coding_transcript_exon_variant,,ENST00000503207,;WHSC1,downstream_gene_variant,,ENST00000505643,;WHSC1,downstream_gene_variant,,ENST00000513726,;WHSC1,downstream_gene_variant,,ENST00000502425,;WHSC1,3_prime_UTR_variant,,ENST00000312087,;WHSC1,3_prime_UTR_variant,,ENST00000353275,;WHSC1,non_coding_transcript_exon_variant,,ENST00000507094,;	G	ENST00000382895	Transcript	missense_variant	3305/7827	2874/4098	958/1365	F/L	ttC/ttG		1		1	WHSC1	HGNC	HGNC:12766	protein_coding	YES	CCDS33940.1	ENSP00000372351	O96028		UPI0000073F57	NM_133330.2	deleterious(0)		17/24		hmmpanther:PTHR22884:SF293,hmmpanther:PTHR22884,Gene3D:2.30.30.160,Pfam_domain:PF00855,Superfamily_domains:SSF63748																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	1956181	1956181	C	G	1	0	0	0	0	1	0	0	0	17920	825	29	4		4	WHSC1	4	1956181	Missense_Mutation	SNP	C	C3N-01842_TP		1956181	188258374	103	27957											
CWH43	0	.	GRCh38	chr4	48994696	48994696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctagacccaactggctgCtggcaggggctgcttttggt	5	11	13	12	0	1	1	0	0	1	1	1	1	1	1	2	5	3	5	2	5	2	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.589C>A	p.Leu197Met	p.L197M	ENST00000226432	5/16	288	209	79	435	434	1	strelka-varscan-mutect	CWH43,missense_variant,p.Leu197Met,ENST00000226432,NM_025087.2;CWH43,missense_variant,p.Leu170Met,ENST00000513409,NM_001286791.1;CWH43,missense_variant,p.Leu197Met,ENST00000514053,;	A	ENST00000226432	Transcript	missense_variant	772/2472	589/2100	197/699	L/M	Ctg/Atg		1		1	CWH43	HGNC	HGNC:26133	protein_coding	YES	CCDS3486.1	ENSP00000226432	Q9H720		UPI000020BC89	NM_025087.2	deleterious(0.01)		5/16		Transmembrane_helices:TMhelix,hmmpanther:PTHR14859,hmmpanther:PTHR14859:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	48994696	48994696	C	A	1	0	0	0	0	1	0	0	0	3883	796	28	2		2	CWH43	4	48994696	Missense_Mutation	SNP	C	C3N-01842_TP	47038515	48994696	141219859	104	27958											
STAP1	0	.	GRCh38	chr4	67593259	67593259	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcactctctattaatacaGgtaacactcccaaacctttt	12	14	2	13	0	2	0	1	0	2	0	5	0	3	0	2	1	3	1	2	1	5	6	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.730-1G>A		p.X244_splice	ENST00000265404		90	71	19	97	97	0	strelka-varscan-mutect	STAP1,splice_acceptor_variant,,ENST00000265404,NM_012108.2;STAP1,splice_acceptor_variant,,ENST00000396225,NM_001317769.1;	A	ENST00000265404	Transcript	splice_acceptor_variant	-/1511	730/888	244/295				1		1	STAP1	HGNC	HGNC:24133	protein_coding	YES	CCDS3515.1	ENSP00000265404	Q9ULZ2	A0A024RD91	UPI0000073E6C	NM_012108.2				7/8																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	84	67593259	67593259	G	A	1	0	0	0	0	0	0	1	0	15627	1014	35	3		3	STAP1	4	67593259	Splice_Site	SNP	G	C3N-01842_TP	18598563	67593259	122621296	105	27959											
TMPRSS11D	0	.	GRCh38	chr4	67822459	67822459	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacaataaaccaaagccGccgtgagtcttcttgtacta	12	9	6	14	2	2	1	0	1	2	0	2	1	2	1	5	0	3	1	5	0	6	5	rs758167149		C3N-01842_TP	C3N-01842_NB	G	G																c.1135C>A	p.=	p.R379R	ENST00000283916	10/10	176	117	59	225	223	2	strelka-varscan-mutect	TMPRSS11D,synonymous_variant,p.=,ENST00000283916,NM_004262.2;TMPRSS11D,downstream_gene_variant,,ENST00000514868,;UBA6-AS1,intron_variant,,ENST00000500538,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000505533,;	T	ENST00000283916	Transcript	synonymous_variant	1234/2817	1135/1257	379/418	R	Cgg/Agg	rs758167149,COSM3781181	1		-1	TMPRSS11D	HGNC	HGNC:24059	protein_coding	YES	CCDS3518.1	ENSP00000283916	O60235		UPI000003FE66	NM_004262.2			10/10		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF20,hmmpanther:PTHR24256,Gene3D:2.40.10.10,PIRSF_domain:PIRSF037941,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494											0,1						LOW	1	SNV	1		0,1	1										PASS		rs758167149	.												T	2	4	84	67822459	67822459	G	T	1	0	0	0	0	0	0	0	1	16717	1086	38	1		1	TMPRSS11D	4	67822459	Silent	SNP	G	C3N-01842_TP	229200	67822459	122392096	106	27960											
SEC24D	0	.	GRCh38	chr4	118745044	118745044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatggaagatgaacagcttcCcaggacagtctgctgcctaa	13	8	10	10	0	1	2	0	1	1	1	2	4	2	4	2	2	4	2	2	2	4	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1724G>T	p.Gly575Val	p.G575V	ENST00000280551	14/23	153	93	60	202	202	0	strelka-varscan-mutect	SEC24D,missense_variant,p.Gly575Val,ENST00000280551,NM_001318066.1,NM_014822.2;SEC24D,missense_variant,p.Gly131Val,ENST00000419654,;SEC24D,missense_variant,p.Gly206Val,ENST00000511481,;SEC24D,non_coding_transcript_exon_variant,,ENST00000505134,;SEC24D,non_coding_transcript_exon_variant,,ENST00000511033,;SEC24D,3_prime_UTR_variant,,ENST00000514561,;	A	ENST00000280551	Transcript	missense_variant	1963/4030	1724/3099	575/1032	G/V	gGg/gTg		1		-1	SEC24D	HGNC	HGNC:10706	protein_coding	YES	CCDS3710.1	ENSP00000280551	O94855		UPI00001AEA4F	NM_001318066.1,NM_014822.2	deleterious(0)		14/23		hmmpanther:PTHR13803:SF6,hmmpanther:PTHR13803,Gene3D:3.40.50.410,Pfam_domain:PF04811,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	118745044	118745044	C	A	1	0	0	0	0	1	0	0	0	14274	623	22	2		2	SEC24D	4	118745044	Missense_Mutation	SNP	C	C3N-01842_TP	50922585	118745044	71469511	107	27961											
FSTL5	0	.	GRCh38	chr4	161500038	161500038	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatccaaggagcttttcaCtaggcttaatgtgcctctga	11	12	9	9	0	2	1	1	1	1	0	3	3	3	2	2	2	2	2	2	2	4	4	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1436G>C	p.Ser479Thr	p.S479T	ENST00000306100	12/16	279	199	80	266	266	0	strelka-varscan-mutect	FSTL5,missense_variant,p.Ser479Thr,ENST00000306100,NM_020116.4;FSTL5,missense_variant,p.Ser478Thr,ENST00000379164,NM_001128427.2;FSTL5,missense_variant,p.Ser469Thr,ENST00000427802,NM_001128428.2;FSTL5,non_coding_transcript_exon_variant,,ENST00000511999,;	G	ENST00000306100	Transcript	missense_variant	1873/4831	1436/2544	479/847	S/T	aGt/aCt		1		-1	FSTL5	HGNC	HGNC:21386	protein_coding	YES	CCDS3802.1	ENSP00000305334	Q8N475		UPI000020B66B	NM_020116.4	tolerated(1)		12/16		hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF44																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	161500038	161500038	C	G	1	0	0	0	0	1	0	0	0	5954	565	20	4		4	FSTL5	4	161500038	Missense_Mutation	SNP	C	C3N-01842_TP	42754994	161500038	28714517	108	27962											
MARCH1	0	.	GRCh38	chr4	163612794	163612794	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactctcatctgtggaagAtgaatctgaagaatctgtgt	12	13	10	6	0	4	5	1	3	4	2	5	6	4	6	0	1	0	0	0	1	4	0	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.487T>A	p.Ser163Thr	p.S163T	ENST00000514618	7/10	193	128	65	203	203	0	strelka-varscan-mutect	MARCH1,missense_variant,p.Ser163Thr,ENST00000514618,;MARCH1,intron_variant,,ENST00000503008,NM_001166373.1;MARCH1,intron_variant,,ENST00000274056,;MARCH1,intron_variant,,ENST00000339875,NM_017923.3;MARCH1,intron_variant,,ENST00000507270,;MARCH1,non_coding_transcript_exon_variant,,ENST00000512214,;MARCH1,non_coding_transcript_exon_variant,,ENST00000511245,;MARCH1,intron_variant,,ENST00000510786,;MARCH1,intron_variant,,ENST00000505517,;MARCH1,downstream_gene_variant,,ENST00000510696,;	T	ENST00000514618	Transcript	missense_variant	975/3903	487/1638	163/545	S/T	Tct/Act		1		-1	MARCH1	HGNC	HGNC:26077	protein_coding			ENSP00000421322		D6RGC4	UPI0001D3B97D		tolerated(0.07)		7/10		Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	84	163612794	163612794	A	T	1	0	0	0	0	1	0	0	0	9223	333	12	4		4	MARCH1	4	163612794	Missense_Mutation	SNP	A	C3N-01842_TP	2112756	163612794	26601761	109	27963											
TERT	0	.	GRCh38	chr5	1294873	1294873	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgccgggtccccgcgctgCaccagccgccagccctgggg	3	3	15	20	5	0	0	0	0	0	0	1	0	1	0	8	3	3	2	8	3	0	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.117G>T	p.=	p.V39V	ENST00000310581	1/16	203	186	17	104	103	1	strelka-varscan-mutect	TERT,synonymous_variant,p.=,ENST00000310581,NM_198253.2;TERT,synonymous_variant,p.=,ENST00000334602,NM_001193376.1;TERT,synonymous_variant,p.=,ENST00000508104,;TERT,non_coding_transcript_exon_variant,,ENST00000522877,;TERT,synonymous_variant,p.=,ENST00000460137,;	A	ENST00000310581	Transcript	synonymous_variant	175/4018	117/3399	39/1132	V	gtG/gtT		1		-1	TERT	HGNC	HGNC:11730	protein_coding	YES	CCDS3861.2	ENSP00000309572	O14746		UPI0000031309	NM_198253.2			1/16		hmmpanther:PTHR12066,hmmpanther:PTHR12066:SF0																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	1294873	1294873	C	A	1	0	0	0	0	0	0	0	1	16183	697	25	2		2	TERT	5	1294873	Silent	SNP	C	C3N-01842_TP		1294873	180243386	110	27964											
IRX1	0	.	GRCh38	chr5	3600095	3600095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagcgcattcctcgcacagGgctccctgctcaacatgcgc	8	7	9	17	3	1	0	1	0	0	0	4	0	3	0	2	1	4	4	2	1	1	1	rs368097265		C3N-01842_TP	C3N-01842_NB	G	G																c.1147G>T	p.Gly383Cys	p.G383C	ENST00000302006	2/4	228	113	115	168	168	0	strelka-varscan-mutect	IRX1,missense_variant,p.Gly383Cys,ENST00000302006,NM_024337.3;CTD-2012M11.3,non_coding_transcript_exon_variant,,ENST00000559410,;	T	ENST00000302006	Transcript	missense_variant	1199/1858	1147/1443	383/480	G/C	Ggc/Tgc	rs368097265	1		1	IRX1	HGNC	HGNC:14358	protein_coding	YES	CCDS34132.1	ENSP00000305244	P78414		UPI00001B6455	NM_024337.3	tolerated(0.07)		2/4		hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF13																	MODERATE	1	SNV	1			1										PASS		rs368097265	.												T	3	4	84	3600095	3600095	G	T	1	0	0	0	0	1	0	0	0	7751	1232	43	2		2	IRX1	5	3600095	Missense_Mutation	SNP	G	C3N-01842_TP	2305222	3600095	177938164	111	27965											
ADAMTS16	0	.	GRCh38	chr5	5237007	5237007	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctactgtatcgcagaaggaTttgatttcttcttttctttg	7	20	7	7	1	4	2	0	1	4	1	5	3	4	3	0	1	1	2	0	1	3	8	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.2062T>A	p.Phe688Ile	p.F688I	ENST00000274181	14/23	342	170	172	177	177	0	strelka-varscan-mutect	ADAMTS16,missense_variant,p.Phe688Ile,ENST00000274181,NM_139056.2;ADAMTS16,intron_variant,,ENST00000513709,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;	A	ENST00000274181	Transcript	missense_variant	2200/4979	2062/3675	688/1224	F/I	Ttt/Att		1		1	ADAMTS16	HGNC	HGNC:17108	protein_coding	YES	CCDS43299.1	ENSP00000274181	Q8TE57		UPI00004572CA	NM_139056.2	deleterious(0)		14/23		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	84	5237007	5237007	T	A	1	0	0	0	0	1	0	0	0	305	1493	52	4		4	ADAMTS16	5	5237007	Missense_Mutation	SNP	T	C3N-01842_TP	1636912	5237007	176301252	112	27966											
SEMA5A	0	.	GRCh38	chr5	9197261	9197261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaaggcctgcgcgatggcGctcaggttgaagacgcacac	10	5	15	11	4	1	3	1	1	0	2	1	5	1	3	1	3	1	3	1	3	2	1	rs765586378		C3N-01842_TP	C3N-01842_NB	G	G																c.975C>T	p.=	p.S325S	ENST00000382496	10/23	342	288	54	245	245	0	strelka-varscan	SEMA5A,synonymous_variant,p.=,ENST00000382496,NM_003966.2;SEMA5A,downstream_gene_variant,,ENST00000513968,;SEMA5A,downstream_gene_variant,,ENST00000514923,;	A	ENST00000382496	Transcript	synonymous_variant	1641/11762	975/3225	325/1074	S	agC/agT	rs765586378,COSM4854653	1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2			10/23		PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF78,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												A	2	1	84	9197261	9197261	G	A	1	0	0	0	0	0	0	0	1	14313	1078	38	1		1	SEMA5A	5	9197261	Silent	SNP	G	C3N-01842_TP	3960254	9197261	172340998	113	27967											
OTULIN	0	.	GRCh38	chr5	14692977	14692977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacccaaggactggccagtgGtaacgctcattgctgaggac	10	7	12	12	1	1	1	1	1	0	0	1	3	1	3	2	4	2	3	2	4	2	2	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.988G>T	p.Val330Leu	p.V330L	ENST00000284274	7/7	464	221	243	362	361	1	strelka-varscan	OTULIN,missense_variant,p.Val330Leu,ENST00000284274,NM_138348.4;OTULIN,missense_variant,p.Val62Leu,ENST00000506417,;OTULIN,downstream_gene_variant,,ENST00000503023,;OTULIN,downstream_gene_variant,,ENST00000514913,;	T	ENST00000284274	Transcript	missense_variant	1066/7800	988/1059	330/352	V/L	Gta/Tta		1		1	OTULIN	HGNC	HGNC:25118	protein_coding	YES	CCDS43302.1	ENSP00000284274	Q96BN8		UPI0000374C00	NM_138348.4	tolerated(0.07)		7/7		hmmpanther:PTHR33662,hmmpanther:PTHR33662:SF2,Pfam_domain:PF16218,Prints_domain:PR02057,Prints_domain:PR02055																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	14692977	14692977	G	T	1	0	0	0	0	1	0	0	0	11389	1261	44	2		2	OTULIN	5	14692977	Missense_Mutation	SNP	G	C3N-01842_TP	5495716	14692977	166845282	114	27968											
PRDM9	0	.	GRCh38	chr5	23526714	23526714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatcagatgttattacacaCcaaaggacacatacagggga	18	7	8	8	0	1	1	1	0	0	1	1	3	1	3	1	3	2	1	1	3	5	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1626C>A	p.His542Gln	p.H542Q	ENST00000296682	11/11	889	421	468	541	539	2	strelka-varscan-mutect	PRDM9,missense_variant,p.His542Gln,ENST00000296682,NM_020227.2;PRDM9,downstream_gene_variant,,ENST00000635252,;	A	ENST00000296682	Transcript	missense_variant	1808/3691	1626/2685	542/894	H/Q	caC/caA		1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	deleterious(0.01)		11/11		PROSITE_profiles:PS50157,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	23526714	23526714	C	A	1	0	0	0	0	1	0	0	0	12595	506	18	2		2	PRDM9	5	23526714	Missense_Mutation	SNP	C	C3N-01842_TP	8833737	23526714	158011545	115	27969											
C6	0	.	GRCh38	chr5	41153913	41153913	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcctttggggcaagttagCtcaatggattcaccaattct	11	12	9	9	0	3	0	2	0	1	0	3	1	3	1	2	3	2	3	2	3	5	4	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.2187G>C	p.Glu729Asp	p.E729D	ENST00000263413	15/18	406	218	188	328	328	0	strelka-varscan	C6,missense_variant,p.Glu729Asp,ENST00000263413,NM_001115131.2;C6,missense_variant,p.Glu729Asp,ENST00000337836,NM_000065.3;C6,non_coding_transcript_exon_variant,,ENST00000461473,;C6,downstream_gene_variant,,ENST00000511470,;	G	ENST00000263413	Transcript	missense_variant	2452/3661	2187/2805	729/934	E/D	gaG/gaC		1		-1	C6	HGNC	HGNC:1339	protein_coding	YES	CCDS3936.1	ENSP00000263413	P13671		UPI000013D401	NM_001115131.2	tolerated(0.36)		15/18		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	41153913	41153913	C	G	1	0	0	0	0	1	0	0	0	2111	796	28	4		4	C6	5	41153913	Missense_Mutation	SNP	C	C3N-01842_TP	17627199	41153913	140384346	116	27970											
HMGCS1	0	.	GRCh38	chr5	43298797	43298797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctctatctgtgcagaagcCcatcttggcctggcccaagc	7	11	9	14	0	3	1	0	0	3	1	4	1	3	1	3	2	3	1	3	2	3	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.169G>T	p.Gly57Cys	p.G57C	ENST00000325110	3/11	485	392	93	347	344	3	strelka-varscan	HMGCS1,missense_variant,p.Gly57Cys,ENST00000325110,NM_001098272.2;HMGCS1,missense_variant,p.Gly57Cys,ENST00000433297,NM_002130.7;HMGCS1,missense_variant,p.Gly57Cys,ENST00000511774,;HMGCS1,non_coding_transcript_exon_variant,,ENST00000507004,;HMGCS1,non_coding_transcript_exon_variant,,ENST00000507293,;HMGCS1,upstream_gene_variant,,ENST00000508319,;HMGCS1,upstream_gene_variant,,ENST00000514610,;	A	ENST00000325110	Transcript	missense_variant	376/3506	169/1563	57/520	G/C	Ggc/Tgc		1		-1	HMGCS1	HGNC	HGNC:5007	protein_coding	YES	CCDS34154.1	ENSP00000322706	Q01581	A0A024R059	UPI000012C9BC	NM_001098272.2	deleterious(0)		3/11		Gene3D:3.40.47.10,Pfam_domain:PF01154,hmmpanther:PTHR11877,hmmpanther:PTHR11877:SF12,Superfamily_domains:SSF53901,TIGRFAM_domain:TIGR01833																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	43298797	43298797	C	A	1	0	0	0	0	1	0	0	0	7124	623	22	2		2	HMGCS1	5	43298797	Missense_Mutation	SNP	C	C3N-01842_TP	2144884	43298797	138239462	117	27971											
HCN1	0	.	GRCh38	chr5	45396684	45396684	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctttgaagagtgcgtaTgaatactgctttccccaaga	12	12	9	8	1	0	4	0	2	0	2	1	4	1	4	2	0	4	3	2	0	6	5	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.1038A>T	p.=	p.S346S	ENST00000303230	4/8	885	423	462	566	566	0	strelka-varscan	HCN1,synonymous_variant,p.=,ENST00000303230,NM_021072.3;HCN1,non_coding_transcript_exon_variant,,ENST00000637305,;	A	ENST00000303230	Transcript	synonymous_variant	1279/9885	1038/2673	346/890	S	tcA/tcT		1		-1	HCN1	HGNC	HGNC:4845	protein_coding	YES	CCDS3952.1	ENSP00000307342	O60741		UPI00001AED69	NM_021072.3			4/8		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373,Superfamily_domains:SSF81324																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	45396684	45396684	T	A	1	0	0	0	0	0	0	0	1	6883	1451	51	4		4	HCN1	5	45396684	Silent	SNP	T	C3N-01842_TP	2097887	45396684	136141575	118	27972											
HCN1	0	.	GRCh38	chr5	45695805	45695805	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcatggaggtgaactGcctctgcatgaagccgtact	9	9	12	11	1	1	2	0	2	1	0	1	3	1	3	2	2	7	4	2	2	3	1			C3N-01842_TP	C3N-01842_NB	G	G																c.289C>G	p.Gln97Glu	p.Q97E	ENST00000303230	1/8	811	722	89	653	653	0	strelka-varscan	HCN1,missense_variant,p.Gln97Glu,ENST00000303230,NM_021072.3;HCN1,missense_variant,p.Gln97Glu,ENST00000634658,;HCN1,upstream_gene_variant,,ENST00000638054,;	C	ENST00000303230	Transcript	missense_variant	530/9885	289/2673	97/890	Q/E	Cag/Gag	COSM5696632	1		-1	HCN1	HGNC	HGNC:4845	protein_coding	YES	CCDS3952.1	ENSP00000307342	O60741		UPI00001AED69	NM_021072.3	deleterious(0)		1/8		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	84	45695805	45695805	G	C	1	0	0	0	0	1	0	0	0	6883	1328	46	4		4	HCN1	5	45695805	Missense_Mutation	SNP	G	C3N-01842_TP	299121	45695805	135842454	119	27973											
ANKRD55	0	.	GRCh38	chr5	56111473	56111473	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attggtggaagccccttacgGgccagcggtttcttttctgg	5	13	13	10	2	2	0	0	0	2	0	2	1	2	1	3	5	3	1	3	5	2	5	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1275C>A	p.=	p.A425A	ENST00000341048	10/12	269	235	34	470	469	1	strelka-varscan	ANKRD55,synonymous_variant,p.=,ENST00000341048,NM_024669.2;ANKRD55,synonymous_variant,p.=,ENST00000504958,;ANKRD55,synonymous_variant,p.=,ENST00000434982,;ANKRD55,downstream_gene_variant,,ENST00000505970,;	T	ENST00000341048	Transcript	synonymous_variant	1427/2502	1275/1845	425/614	A	gcC/gcA		1		-1	ANKRD55	HGNC	HGNC:25681	protein_coding	YES	CCDS34161.1	ENSP00000342295	Q3KP44		UPI00004572EF	NM_024669.2			10/12		hmmpanther:PTHR24158,hmmpanther:PTHR24158:SF24																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	84	56111473	56111473	G	T	1	0	0	0	0	0	0	0	1	785	1219	43	2		2	ANKRD55	5	56111473	Silent	SNP	G	C3N-01842_TP	10415668	56111473	125426786	120	27974											
MAST4	0	.	GRCh38	chr5	67160545	67160545	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaacagctataagagccgGatggtgaggcggagcaagaa	16	4	15	6	2	0	4	0	1	0	3	0	6	0	6	1	4	4	2	1	4	5	2	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.3738G>T	p.=	p.R1246R	ENST00000403625	27/29	172	122	50	237	237	0	strelka-varscan	MAST4,synonymous_variant,p.=,ENST00000403625,NM_001164664.1;MAST4,synonymous_variant,p.=,ENST00000405643,NM_001290226.1;MAST4,synonymous_variant,p.=,ENST00000261569,NM_001290227.1,NM_001297651.1;MAST4,synonymous_variant,p.=,ENST00000403666,NM_015183.2;MAST4,synonymous_variant,p.=,ENST00000443808,;	T	ENST00000403625	Transcript	synonymous_variant	4033/10711	3738/7872	1246/2623	R	cgG/cgT		1		1	MAST4	HGNC	HGNC:19037	protein_coding	YES	CCDS54861.1	ENSP00000385727		J3QT34	UPI000173A2B0	NM_001164664.1			27/29		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	84	67160545	67160545	G	T	1	0	0	0	0	0	0	0	1	9253	1161	41	2		2	MAST4	5	67160545	Silent	SNP	G	C3N-01842_TP	11049072	67160545	114377714	121	27975											
CARTPT	0	.	GRCh38	chr5	71719404	71719404	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgagctccagccccgagcCctggacatctactctgccgt	6	7	10	18	3	2	0	0	0	2	0	3	3	3	1	6	1	5	1	6	1	1	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.111C>T	p.=	p.A37A	ENST00000296777	1/3	443	400	43	643	643	0	strelka-varscan	CARTPT,synonymous_variant,p.=,ENST00000296777,NM_004291.3;CARTPT,upstream_gene_variant,,ENST00000513096,;	T	ENST00000296777	Transcript	synonymous_variant	242/915	111/351	37/116	A	gcC/gcT		1		1	CARTPT	HGNC	HGNC:24323	protein_coding	YES	CCDS4011.1	ENSP00000296777	Q16568		UPI00000015E9	NM_004291.3			1/3		hmmpanther:PTHR16655																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	84	71719404	71719404	C	T	1	0	0	0	0	0	0	0	1	2358	610	22	3		3	CARTPT	5	71719404	Silent	SNP	C	C3N-01842_TP	4558859	71719404	109818855	122	27976											
FBN2	0	.	GRCh38	chr5	128335209	128335209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggaagccatgaagccatCatagcagaggcagcgatact	14	6	11	10	1	1	2	1	1	0	1	1	4	1	3	2	2	5	2	2	2	4	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.3934G>A	p.Asp1312Asn	p.D1312N	ENST00000508053	36/71	525	371	154	692	691	1	strelka-varscan	FBN2,missense_variant,p.Asp1312Asn,ENST00000508053,;FBN2,missense_variant,p.Asp1312Asn,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Asp1311Asn,ENST00000619499,;FBN2,missense_variant,p.Asp1279Asn,ENST00000508989,;FBN2,missense_variant,p.Asp162Asn,ENST00000507835,;	T	ENST00000508053	Transcript	missense_variant	4909/11132	3934/8739	1312/2912	D/N	Gat/Aat		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		deleterious(0.04)		36/71		Gene3D:2.10.25.10,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	84	128335209	128335209	C	T	1	0	0	0	0	1	0	0	0	5566	826	29	3		3	FBN2	5	128335209	Missense_Mutation	SNP	C	C3N-01842_TP	56615805	128335209	53203050	123	27977											
TGFBI	0	.	GRCh38	chr5	136046403	136046403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccactcagctgtacacgGaccgcacggagaagctgagg	11	4	12	14	3	1	2	1	1	0	1	1	4	1	3	3	3	3	4	3	3	2	1	rs541270955		C3N-01842_TP	C3N-01842_NB	G	G																c.367G>T	p.Asp123Tyr	p.D123Y	ENST00000442011	4/17	122	101	21	215	215	0	strelka-varscan	TGFBI,missense_variant,p.Asp123Tyr,ENST00000442011,NM_000358.2;TGFBI,upstream_gene_variant,,ENST00000514554,;TGFBI,upstream_gene_variant,,ENST00000604555,;TGFBI,upstream_gene_variant,,ENST00000508767,;TGFBI,non_coding_transcript_exon_variant,,ENST00000504185,;TGFBI,missense_variant,p.Asp96Tyr,ENST00000507018,;TGFBI,non_coding_transcript_exon_variant,,ENST00000515433,;TGFBI,non_coding_transcript_exon_variant,,ENST00000506699,;TGFBI,upstream_gene_variant,,ENST00000509749,;	T	ENST00000442011	Transcript	missense_variant	528/2804	367/2052	123/683	D/Y	Gac/Tac	rs541270955,CM033817	1		1	TGFBI	HGNC	HGNC:11771	protein_coding	YES	CCDS47266.1	ENSP00000416330	Q15582	A0A0S2Z4Q2	UPI0000000C6A	NM_000358.2	deleterious(0)		4/17		Gene3D:2.30.180.10,Pfam_domain:PF02469,PIRSF_domain:PIRSF016553,PROSITE_profiles:PS50213,hmmpanther:PTHR10900,hmmpanther:PTHR10900:SF82,Superfamily_domains:SSF82153																	MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	84	136046403	136046403	G	T	1	0	0	0	0	1	0	0	0	16253	1174	41	2		2	TGFBI	5	136046403	Missense_Mutation	SNP	G	C3N-01842_TP	7711194	136046403	45491856	124	27978											
TRPC7	0	.	GRCh38	chr5	136274694	136274694	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctgcacggagcaatccaAtaggctatggcgagaaaagg	13	7	13	8	2	0	1	0	0	0	1	1	3	1	2	1	4	3	4	1	4	6	3	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.1107T>C	p.=	p.Y369Y	ENST00000513104	4/12	169	121	48	249	249	0	strelka-varscan	TRPC7,synonymous_variant,p.=,ENST00000513104,NM_020389.2;TRPC7,synonymous_variant,p.=,ENST00000378459,NM_001167577.1;TRPC7,intron_variant,,ENST00000502753,;TRPC7,intron_variant,,ENST00000352189,NM_001167576.1;TRPC7,synonymous_variant,p.=,ENST00000503275,;TRPC7,intron_variant,,ENST00000514963,;	G	ENST00000513104	Transcript	synonymous_variant	1390/2987	1107/2589	369/862	Y	taT/taC		1		-1	TRPC7	HGNC	HGNC:20754	protein_coding	YES	CCDS47267.2	ENSP00000426070	Q9HCX4		UPI000004F27A	NM_020389.2			4/12		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9,TIGRFAM_domain:TIGR00870,Transmembrane_helices:TMhelix																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	84	136274694	136274694	A	G	1	0	0	0	0	0	0	0	1	17090	108	4	5		5	TRPC7	5	136274694	Silent	SNP	A	C3N-01842_TP	228291	136274694	45263565	125	27979											
PCDHA6	0	.	GRCh38	chr5	140829059	140829059	+	Frame_Shift_Del	DEL	C	C	-																															caaaatcctcattgacgccaCggacaaaggccatcctccca																								novel		C3N-01842_TP	C3N-01842_NB	C	C																c.968delC	p.Thr323ArgfsTer15	p.T323Rfs*15	ENST00000529310	1/4	167	117	50	281	281	0	sindel-varindel	PCDHA6,frameshift_variant,p.Thr323ArgfsTer15,ENST00000529310,NM_018909.3;PCDHA6,frameshift_variant,p.Thr323ArgfsTer15,ENST00000378126,NM_031848.2;PCDHA6,frameshift_variant,p.Thr323ArgfsTer15,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA5,downstream_gene_variant,,ENST00000614258,NM_031501.1;	-	ENST00000529310	Transcript	frameshift_variant	1082/5374	968/2853	323/950	T/X	aCg/ag		1		1	PCDHA6	HGNC	HGNC:8672	protein_coding	YES	CCDS47281.1	ENSP00000433378	Q9UN73		UPI00001273CE	NM_018909.3			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF131,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	84	140829059	140829059	C	-	1	0	1	0	1	0	0	0	0	11615	536	19	0		0	PCDHA6	5	140829059	Frame_Shift_Del	DEL	C	C3N-01842_TP	4554365	140829059	40709200	126	27980											
PCDHB12	0	.	GRCh38	chr5	141211193	141211193	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggaggctccaggtcaaaTaagttcaaatttctgaaacc	14	10	8	9	0	3	1	2	1	1	0	4	2	4	2	2	3	1	2	2	3	4	3	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.2286T>A	p.Asn762Lys	p.N762K	ENST00000239450	1/1	149	104	45	234	234	0	strelka-varscan	PCDHB12,missense_variant,p.Asn762Lys,ENST00000239450,NM_018932.3;PCDHB12,missense_variant,p.Asn425Lys,ENST00000624949,;PCDHB12,3_prime_UTR_variant,,ENST00000622978,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.3;CH17-140K24.2,intron_variant,,ENST00000624192,;	A	ENST00000239450	Transcript	missense_variant	2475/3853	2286/2388	762/795	N/K	aaT/aaA		1		1	PCDHB12	HGNC	HGNC:8683	protein_coding	YES	CCDS4254.1	ENSP00000239450	Q9Y5F1		UPI000000DAFD	NM_018932.3	deleterious_low_confidence(0.05)		1/1		hmmpanther:PTHR24028:SF59,hmmpanther:PTHR24028,Pfam_domain:PF16492																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	84	141211193	141211193	T	A	1	0	0	0	0	1	0	0	0	11624	1403	49	4		4	PCDHB12	5	141211193	Missense_Mutation	SNP	T	C3N-01842_TP	382134	141211193	40327066	127	27981											
JAKMIP2	0	.	GRCh38	chr5	147648417	147648417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcaaggtattcctgtcttCtaattttcttatagtggcat	10	17	7	7	0	3	0	0	0	3	0	4	0	4	0	1	2	1	3	1	2	6	8	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.895G>C	p.Glu299Gln	p.E299Q	ENST00000616793	5/22	207	152	55	253	253	0	strelka-varscan	JAKMIP2,missense_variant,p.Glu299Gln,ENST00000616793,NM_001270941.1;JAKMIP2,missense_variant,p.Glu299Gln,ENST00000265272,NM_014790.4;JAKMIP2,missense_variant,p.Glu299Gln,ENST00000507386,NM_001270934.1;JAKMIP2,missense_variant,p.Glu257Gln,ENST00000333010,NM_001282282.1;JAKMIP2-AS1,intron_variant,,ENST00000626945,;JAKMIP2-AS1,intron_variant,,ENST00000627433,;JAKMIP2-AS1,intron_variant,,ENST00000630514,;JAKMIP2-AS1,intron_variant,,ENST00000630801,;JAKMIP2,non_coding_transcript_exon_variant,,ENST00000507343,;JAKMIP2,upstream_gene_variant,,ENST00000504845,;	G	ENST00000616793	Transcript	missense_variant	1436/9272	895/2463	299/820	E/Q	Gaa/Caa		1		-1	JAKMIP2	HGNC	HGNC:29067	protein_coding	YES	CCDS75352.1	ENSP00000479248	Q96AA8		UPI0000E5AC9B	NM_001270941.1	deleterious(0)		5/22		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF7																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	84	147648417	147648417	C	G	1	0	0	0	0	1	0	0	0	7854	922	32	4		4	JAKMIP2	5	147648417	Missense_Mutation	SNP	C	C3N-01842_TP	6437224	147648417	33889842	128	27982											
CDHR2	0	.	GRCh38	chr5	176576145	176576145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatgcctccccccgcatccCcatcgatgacctcaccatgg	7	7	7	20	2	1	1	1	1	0	0	4	2	3	1	8	1	1	2	8	1	0	0	rs757549133		C3N-01842_TP	C3N-01842_NB	C	C																c.1154C>A	p.Pro385His	p.P385H	ENST00000510636	12/32	195	127	68	240	240	0	strelka-varscan	CDHR2,missense_variant,p.Pro385His,ENST00000510636,NM_001171976.1;CDHR2,missense_variant,p.Pro385His,ENST00000261944,NM_017675.4;CDHR2,missense_variant,p.Pro385His,ENST00000506348,;	A	ENST00000510636	Transcript	missense_variant	1428/4509	1154/3933	385/1310	P/H	cCc/cAc	rs757549133	1		1	CDHR2	HGNC	HGNC:18231	protein_coding	YES	CCDS34297.1	ENSP00000424565	Q9BYE9		UPI0000DBEE8C	NM_001171976.1	deleterious(0)		12/32		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	176576145	176576145	C	A	1	0	0	0	0	1	0	0	0	2822	623	22	2		2	CDHR2	5	176576145	Missense_Mutation	SNP	C	C3N-01842_TP	28927728	176576145	4962114	129	27983											
F13A1	0	.	GRCh38	chr6	6266637	6266637	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacgccatagggagtccaGacagcaacatacatgcggaa	15	5	11	10	2	0	1	0	0	0	1	1	3	1	3	2	2	5	2	2	2	5	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.492C>A	p.=	p.V164V	ENST00000264870	4/15	893	776	117	635	633	2	strelka-varscan-mutect	F13A1,synonymous_variant,p.=,ENST00000264870,NM_000129.3;F13A1,downstream_gene_variant,,ENST00000431222,;F13A1,downstream_gene_variant,,ENST00000414279,;F13A1,non_coding_transcript_exon_variant,,ENST00000479211,;	T	ENST00000264870	Transcript	synonymous_variant	758/3999	492/2199	164/732	V	gtC/gtA		1		-1	F13A1	HGNC	HGNC:3531	protein_coding	YES	CCDS4496.1	ENSP00000264870	P00488		UPI000013D585	NM_000129.3			4/15		Gene3D:2.60.40.10,Pfam_domain:PF00868,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF42,Superfamily_domains:SSF81296																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	84	6266637	6266637	G	T	1	0	0	0	0	0	0	0	1	5208	929	33	2		2	F13A1	6	6266637	Silent	SNP	G	C3N-01842_TP		6266637	164539342	130	27984											
WDR46	0	.	GRCh38	chr6	33288814	33288814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccacgctcaccccggacaagCcgcgctgggactccgggttc	6	5	12	18	5	1	0	1	0	0	0	3	2	2	2	5	3	1	3	5	3	1	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.269G>T	p.Gly90Val	p.G90V	ENST00000374617	2/15	281	233	48	301	299	2	strelka-varscan-mutect	WDR46,missense_variant,p.Gly90Val,ENST00000374617,NM_001164267.1,NM_005452.5;WDR46,missense_variant,p.Gly25Val,ENST00000444176,;RGL2,downstream_gene_variant,,ENST00000497454,NM_004761.4,NM_001243738.1;PFDN6,upstream_gene_variant,,ENST00000463584,;PFDN6,upstream_gene_variant,,ENST00000395131,;PFDN6,upstream_gene_variant,,ENST00000374606,NM_001185181.2;PFDN6,upstream_gene_variant,,ENST00000374607,NM_014260.3,NM_001265595.1,NM_001265596.1;PFDN6,upstream_gene_variant,,ENST00000374610,;PFDN6,upstream_gene_variant,,ENST00000622807,;WDR46,upstream_gene_variant,,ENST00000622788,;WDR46,non_coding_transcript_exon_variant,,ENST00000477718,;WDR46,non_coding_transcript_exon_variant,,ENST00000468157,;RGL2,downstream_gene_variant,,ENST00000437840,;RGL2,downstream_gene_variant,,ENST00000491168,;RGL2,downstream_gene_variant,,ENST00000471319,;B3GALT4,downstream_gene_variant,,ENST00000606990,;WDR46,non_coding_transcript_exon_variant,,ENST00000481025,;RGL2,downstream_gene_variant,,ENST00000483151,;RGL2,downstream_gene_variant,,ENST00000476616,;WDR46,upstream_gene_variant,,ENST00000489905,;PFDN6,upstream_gene_variant,,ENST00000491382,;PFDN6,upstream_gene_variant,,ENST00000395134,;WDR46,upstream_gene_variant,,ENST00000488944,;	A	ENST00000374617	Transcript	missense_variant	626/2358	269/1833	90/610	G/V	gGc/gTc		1		-1	WDR46	HGNC	HGNC:13923	protein_coding	YES	CCDS4772.1	ENSP00000363746	O15213		UPI000045741F	NM_001164267.1,NM_005452.5	tolerated(0.64)		2/15																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	33288814	33288814	C	A	1	0	0	0	0	1	0	0	0	17859	739	26	2		2	WDR46	6	33288814	Missense_Mutation	SNP	C	C3N-01842_TP	27022177	33288814	137517165	131	27985											
DNAH8	0	.	GRCh38	chr6	38917264	38917264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccaaatgatattgccaCagtcaggaaacttgcaaaac	17	7	7	10	0	1	1	1	1	0	0	1	2	1	2	2	1	5	1	2	1	6	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.10166C>T	p.Thr3389Ile	p.T3389I	ENST00000327475	69/93	134	110	24	147	147	0	strelka-varscan-mutect	DNAH8,missense_variant,p.Thr3389Ile,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Thr3172Ile,ENST00000359357,;DNAH8,missense_variant,p.Thr3389Ile,ENST00000449981,;	T	ENST00000327475	Transcript	missense_variant	10275/14360	10166/14124	3389/4707	T/I	aCa/aTa		1		1	DNAH8	HGNC	HGNC:2952	protein_coding	YES	CCDS75447.1	ENSP00000333363		A0A075B6F3	UPI000179A984	NM_001206927.1	deleterious(0)		69/93		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF280,Pfam_domain:PF12777																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	84	38917264	38917264	C	T	1	0	0	0	0	1	0	0	0	4422	478	17	3		3	DNAH8	6	38917264	Missense_Mutation	SNP	C	C3N-01842_TP	5628450	38917264	131888715	132	27986											
DNAH8	0	.	GRCh38	chr6	38923083	38923083	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttaatgacgctgatacgtGccggaaaaagatgcaggccg	12	7	13	9	4	0	3	0	2	0	1	0	4	0	4	2	2	3	3	2	2	4	2			C3N-01842_TP	C3N-01842_NB	G	G																c.10688G>C	p.Cys3563Ser	p.C3563S	ENST00000327475	72/93	275	227	48	293	292	1	strelka-varscan-mutect	DNAH8,missense_variant,p.Cys3563Ser,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Cys3346Ser,ENST00000359357,;DNAH8,missense_variant,p.Cys3563Ser,ENST00000449981,;RP1-207H1.3,non_coding_transcript_exon_variant,,ENST00000416948,;RP1-207H1.3,non_coding_transcript_exon_variant,,ENST00000418399,;RP1-207H1.2,upstream_gene_variant,,ENST00000407768,;	C	ENST00000327475	Transcript	missense_variant	10797/14360	10688/14124	3563/4707	C/S	tGc/tCc	COSM1444307,COSM1444308,COSM5136727	1		1	DNAH8	HGNC	HGNC:2952	protein_coding	YES	CCDS75447.1	ENSP00000333363		A0A075B6F3	UPI000179A984	NM_001206927.1	deleterious(0)		72/93		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF280,Pfam_domain:PF12777											1,1,1						MODERATE		SNV	5		1,1,1	1										PASS		.	.												C	3	2	84	38923083	38923083	G	C	1	0	0	0	0	1	0	0	0	4422	1319	46	4		4	DNAH8	6	38923083	Missense_Mutation	SNP	G	C3N-01842_TP	5819	38923083	131882896	133	27987											
TRERF1	0	.	GRCh38	chr6	42228512	42228512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagactcagctggtccagggGcagcagccccggcgccccca	7	3	13	18	2	1	1	1	0	0	1	2	1	2	1	5	4	3	3	5	4	0	0	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.3496C>T	p.Pro1166Ser	p.P1166S	ENST00000541110	18/18	427	326	101	491	490	1	strelka-varscan-mutect	TRERF1,missense_variant,p.Pro1166Ser,ENST00000541110,NM_001297573.1,NM_001297574.1;TRERF1,missense_variant,p.Pro1146Ser,ENST00000372922,NM_033502.3;TRERF1,missense_variant,p.Pro1075Ser,ENST00000340840,;TRERF1,missense_variant,p.Pro1063Ser,ENST00000354325,;TRERF1,missense_variant,p.Pro902Ser,ENST00000372917,;	A	ENST00000541110	Transcript	missense_variant	4065/7646	3496/3663	1166/1220	P/S	Ccc/Tcc		1		-1	TRERF1	HGNC	HGNC:18273	protein_coding	YES	CCDS75455.1	ENSP00000439689		Q05GC8	UPI000022CBC8	NM_001297573.1,NM_001297574.1	deleterious_low_confidence(0)		18/18																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	42228512	42228512	G	A	1	0	0	0	0	1	0	0	0	16964	1203	42	3		3	TRERF1	6	42228512	Missense_Mutation	SNP	G	C3N-01842_TP	3305429	42228512	128577467	134	27988											
XPO5	0	.	GRCh38	chr6	43575836	43575836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctttcaccagctgctcgCacagcgcgtttacttgatcc	6	11	8	16	4	1	1	1	1	0	0	3	1	2	1	3	0	4	5	3	0	1	4	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.29G>C	p.Cys10Ser	p.C10S	ENST00000265351	1/32	169	131	38	168	168	0	strelka-varscan-mutect	XPO5,missense_variant,p.Cys10Ser,ENST00000265351,NM_020750.2;POLH,upstream_gene_variant,,ENST00000372236,NM_006502.2;POLH,upstream_gene_variant,,ENST00000372226,NM_001291970.1;POLH,upstream_gene_variant,,ENST00000443535,;XPO5,missense_variant,p.Cys10Ser,ENST00000398799,;	G	ENST00000265351	Transcript	missense_variant	240/5364	29/3615	10/1204	C/S	tGc/tCc		1		-1	XPO5	HGNC	HGNC:17675	protein_coding	YES	CCDS47430.1	ENSP00000265351	Q9HAV4		UPI000006CC97	NM_020750.2	deleterious(0.01)		1/32		hmmpanther:PTHR11223,hmmpanther:PTHR11223:SF3,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	43575836	43575836	C	G	1	0	0	0	0	1	0	0	0	18006	710	25	4		4	XPO5	6	43575836	Missense_Mutation	SNP	C	C3N-01842_TP	1347324	43575836	127230143	135	27989											
AARS2	0	.	GRCh38	chr6	44300593	44300593	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctatactgagggcagctTccaggtcagtagtgcttccg	7	10	14	10	1	1	1	1	1	0	0	3	1	3	1	2	3	3	5	2	3	3	5	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.2912A>C	p.Glu971Ala	p.E971A	ENST00000244571	22/22	543	442	101	676	675	1	strelka-varscan-mutect	AARS2,missense_variant,p.Glu971Ala,ENST00000244571,NM_020745.3;TMEM151B,intron_variant,,ENST00000438774,;TCTE1,upstream_gene_variant,,ENST00000371505,NM_182539.3;AARS2,non_coding_transcript_exon_variant,,ENST00000491573,;RP11-444E17.6,intron_variant,,ENST00000505802,;	G	ENST00000244571	Transcript	missense_variant	2915/3854	2912/2958	971/985	E/A	gAa/gCa		1		-1	AARS2	HGNC	HGNC:21022	protein_coding	YES	CCDS34464.1	ENSP00000244571	Q5JTZ9		UPI00001C1E5A	NM_020745.3	tolerated(0.19)		22/22		HAMAP:MF_00036_B,hmmpanther:PTHR11777:SF8,hmmpanther:PTHR11777																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	44300593	44300593	T	G	1	0	0	0	0	1	0	0	0	24	1783	62	5		5	AARS2	6	44300593	Missense_Mutation	SNP	T	C3N-01842_TP	724757	44300593	126505386	136	27990											
PGK2	0	.	GRCh38	chr6	49786339	49786339	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccagtaacaaaatcaacAggaaaagtaatccttacacc	18	7	4	12	0	1	0	1	0	0	0	3	1	3	1	4	1	3	2	4	1	8	3	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.849T>A	p.=	p.P283P	ENST00000304801	1/1	448	333	115	409	409	0	strelka-varscan-mutect	PGK2,synonymous_variant,p.=,ENST00000304801,NM_138733.4;	T	ENST00000304801	Transcript	synonymous_variant	969/1657	849/1254	283/417	P	ccT/ccA		1		-1	PGK2	HGNC	HGNC:8898	protein_coding	YES	CCDS4930.1	ENSP00000305995	P07205	A0A140VJR3	UPI0000001C72	NM_138733.4			1/1		Gene3D:3.40.50.1270,HAMAP:MF_00145,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF10,Superfamily_domains:SSF53748																	LOW	1	SNV				1										PASS		rs35254270	.												T	2	4	84	49786339	49786339	A	T	1	0	0	0	0	0	0	0	1	11880	175	7	4		4	PGK2	6	49786339	Silent	SNP	A	C3N-01842_TP	5485746	49786339	121019640	137	27991											
PKHD1	0	.	GRCh38	chr6	51746777	51746777	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttatctttagcatcctGgtcctctctgctgttattgg	4	20	7	10	0	3	0	0	0	3	0	6	0	5	0	2	2	2	3	2	2	3	6	rs773916989		C3N-01842_TP	C3N-01842_NB	G	G																c.9942C>A	p.=	p.T3314T	ENST00000371117	59/67	439	360	79	364	363	1	strelka-varscan-mutect	PKHD1,synonymous_variant,p.=,ENST00000371117,NM_138694.3;PKHD1,synonymous_variant,p.=,ENST00000340994,NM_170724.2;	T	ENST00000371117	Transcript	synonymous_variant	10218/16282	9942/12225	3314/4074	T	acC/acA	rs773916989	1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3			59/67		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF299																	LOW	1	SNV	1			1										PASS		rs773916989	.												T	2	4	84	51746777	51746777	G	T	1	0	0	0	0	0	0	0	1	12067	1335	47	2		2	PKHD1	6	51746777	Silent	SNP	G	C3N-01842_TP	1960438	51746777	119059202	138	27992											
GCM1	0	.	GRCh38	chr6	53130876	53130876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactttcttcatggctcttCttgcctcagcttctaacttg	5	18	5	13	0	7	0	3	0	4	0	7	0	7	0	1	1	3	2	1	1	1	7	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.497G>T	p.Arg166Ile	p.R166I	ENST00000259803	5/6	299	246	53	330	330	0	strelka-varscan-mutect	GCM1,missense_variant,p.Arg166Ile,ENST00000259803,NM_003643.3;RP11-506E9.3,upstream_gene_variant,,ENST00000566420,;	A	ENST00000259803	Transcript	missense_variant	709/2765	497/1311	166/436	R/I	aGa/aTa		1		-1	GCM1	HGNC	HGNC:4197	protein_coding	YES	CCDS4950.1	ENSP00000259803	Q9NP62		UPI0000073F99	NM_003643.3	deleterious(0)		5/6		Superfamily_domains:0041800,PD014393,Pfam_domain:PF03615,PROSITE_profiles:PS50807,hmmpanther:PTHR12414,hmmpanther:PTHR12414:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	53130876	53130876	C	A	1	0	0	0	0	1	0	0	0	6167	913	32	2		2	GCM1	6	53130876	Missense_Mutation	SNP	C	C3N-01842_TP	1384099	53130876	117675103	139	27993											
EYS	0	.	GRCh38	chr6	65405211	65405211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcagtaccattctgacatGgtactaatgaaaactcactg	14	11	7	9	0	3	2	2	2	1	0	3	2	3	2	1	1	3	2	1	1	5	4	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1019C>T	p.Pro340Leu	p.P340L	ENST00000370621	6/44	323	259	64	244	242	2	strelka-varscan-mutect	EYS,missense_variant,p.Pro340Leu,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Pro340Leu,ENST00000370621,NM_001292009.1;EYS,missense_variant,p.Pro340Leu,ENST00000393380,NM_001142801.1;EYS,missense_variant,p.Pro340Leu,ENST00000342421,NM_198283.1;	A	ENST00000370621	Transcript	missense_variant	1546/10485	1019/9498	340/3165	P/L	cCa/cTa		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	tolerated(0.1)		6/44		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	65405211	65405211	G	A	1	0	0	0	0	1	0	0	0	5200	1348	47	3		3	EYS	6	65405211	Missense_Mutation	SNP	G	C3N-01842_TP	12274335	65405211	105400768	140	27994											
EYS	0	.	GRCh38	chr6	65494821	65494821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcaatggcagctatatGtcttgctccaagcttcacta	9	12	9	11	0	2	0	1	0	1	0	3	0	3	0	1	2	3	6	1	2	5	5	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.590C>A	p.Thr197Lys	p.T197K	ENST00000370621	4/44	253	205	48	247	247	0	strelka-varscan-mutect	EYS,missense_variant,p.Thr197Lys,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Thr197Lys,ENST00000370621,NM_001292009.1;EYS,missense_variant,p.Thr197Lys,ENST00000393380,NM_001142801.1;EYS,missense_variant,p.Thr197Lys,ENST00000342421,NM_198283.1;EYS,missense_variant,p.Thr94Lys,ENST00000471279,;EYS,non_coding_transcript_exon_variant,,ENST00000489873,;	T	ENST00000370621	Transcript	missense_variant	1117/10485	590/9498	197/3165	T/K	aCa/aAa		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	tolerated(0.24)		4/44		Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	65494821	65494821	G	T	1	0	0	0	0	1	0	0	0	5200	1377	48	2		2	EYS	6	65494821	Missense_Mutation	SNP	G	C3N-01842_TP	89610	65494821	105311158	141	27995											
COL19A1	0	.	GRCh38	chr6	69898978	69898978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctatcctgagaatagaggGacatcagctgacatatgaca	14	8	9	10	0	1	4	1	3	0	2	2	6	2	5	2	1	1	1	2	1	4	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.122G>T	p.Gly41Val	p.G41V	ENST00000620364	3/51	250	201	49	195	195	0	strelka-varscan-mutect	COL19A1,missense_variant,p.Gly41Val,ENST00000620364,NM_001858.5;	T	ENST00000620364	Transcript	missense_variant	224/6233	122/3429	41/1142	G/V	gGa/gTa		1		1	COL19A1	HGNC	HGNC:2196	protein_coding	YES	CCDS4970.1	ENSP00000480474	Q14993		UPI000004F1E3	NM_001858.5	tolerated(0.26)		3/51																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	69898978	69898978	G	T	1	0	0	0	0	1	0	0	0	3464	1174	41	2		2	COL19A1	6	69898978	Missense_Mutation	SNP	G	C3N-01842_TP	4404157	69898978	100907001	142	27996											
MDN1	0	.	GRCh38	chr6	89729026	89729026	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaacaccaggggaaccctCcaggagaatgggcttcttca	11	6	11	13	0	2	1	1	0	1	1	3	3	3	2	4	4	2	1	4	4	3	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.5254G>T	p.Glu1752Ter	p.E1752*	ENST00000369393	36/102	617	493	124	557	556	1	strelka-varscan-mutect	MDN1,stop_gained,p.Glu1752Ter,ENST00000369393,NM_014611.2;MDN1,stop_gained,p.Glu1752Ter,ENST00000629399,;	A	ENST00000369393	Transcript	stop_gained	5370/18413	5254/16791	1752/5596	E/*	Gag/Tag		1		-1	MDN1	HGNC	HGNC:18302	protein_coding	YES	CCDS5024.1	ENSP00000358400	Q9NU22		UPI000013C4B8	NM_014611.2			36/102		Gene3D:3.40.50.300,Pfam_domain:PF07728,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF64,SMART_domains:SM00382,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	84	89729026	89729026	C	A	1	0	0	0	0	0	1	0	0	9353	864	30	2		2	MDN1	6	89729026	Nonsense_Mutation	SNP	C	C3N-01842_TP	19830048	89729026	81076953	143	27997											
GPRC6A	0	.	GRCh38	chr6	116792744	116792744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcacctctacagtaggtgCtgcaaagattagccagagtg	12	10	10	9	0	2	2	1	0	1	2	2	2	2	2	2	1	4	3	2	1	4	4	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.2179G>A	p.Ala727Thr	p.A727T	ENST00000310357	6/6	186	157	29	185	185	0	strelka-varscan-mutect	GPRC6A,missense_variant,p.Ala727Thr,ENST00000310357,NM_148963.3;GPRC6A,missense_variant,p.Ala656Thr,ENST00000368549,NM_001286355.1;GPRC6A,missense_variant,p.Ala552Thr,ENST00000530250,NM_001286354.1;	T	ENST00000310357	Transcript	missense_variant	2201/2860	2179/2781	727/926	A/T	Gca/Aca		1		-1	GPRC6A	HGNC	HGNC:18510	protein_coding	YES	CCDS5112.1	ENSP00000309493	Q5T6X5		UPI000013EFF9	NM_148963.3	tolerated(0.25)		6/6		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF5,Pfam_domain:PF00003,Prints_domain:PR00248																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	116792744	116792744	C	T	1	0	0	0	0	1	0	0	0	6607	797	28	3		3	GPRC6A	6	116792744	Missense_Mutation	SNP	C	C3N-01842_TP	27063718	116792744	54013235	144	27998											
RFX6	0	.	GRCh38	chr6	116931469	116931469	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctctttaccacctatcaAcactgtgttcatgggaacag	10	12	7	12	0	3	0	2	0	1	0	4	1	4	1	3	1	3	1	3	1	4	4	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.2750A>G	p.Asn917Ser	p.N917S	ENST00000332958	19/19	342	256	86	312	312	0	strelka-varscan-mutect	RFX6,missense_variant,p.Asn917Ser,ENST00000332958,NM_173560.3;	G	ENST00000332958	Transcript	missense_variant	2766/3460	2750/2787	917/928	N/S	aAc/aGc		1		1	RFX6	HGNC	HGNC:21478	protein_coding	YES	CCDS5113.1	ENSP00000332208	Q8HWS3		UPI00001609BE	NM_173560.3	deleterious_low_confidence(0)		19/19																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	116931469	116931469	A	G	1	0	0	0	0	1	0	0	0	13441	43	2	5		5	RFX6	6	116931469	Missense_Mutation	SNP	A	C3N-01842_TP	138725	116931469	53874510	145	27999											
ARFGEF3	0	.	GRCh38	chr6	138298693	138298693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtcctcactgactggaatGagccacctcattttcacttc	10	12	6	13	0	3	2	3	2	0	0	5	3	4	3	3	1	1	0	3	1	2	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.3736G>C	p.Glu1246Gln	p.E1246Q	ENST00000251691	22/34	180	134	46	301	301	0	strelka-varscan-mutect	ARFGEF3,missense_variant,p.Glu1246Gln,ENST00000251691,NM_020340.4;	C	ENST00000251691	Transcript	missense_variant	3902/14877	3736/6534	1246/2177	E/Q	Gag/Cag		1		1	ARFGEF3	HGNC	HGNC:21213	protein_coding	YES	CCDS5189.2	ENSP00000251691	Q5TH69		UPI000150AF4A	NM_020340.4	deleterious(0)		22/34		Pfam_domain:PF09324																	MODERATE	1	SNV	1			1										PASS		rs1206143842	.												C	3	2	84	138298693	138298693	G	C	1	0	0	0	0	1	0	0	0	977	1291	45	4		4	ARFGEF3	6	138298693	Missense_Mutation	SNP	G	C3N-01842_TP	21367224	138298693	32507286	146	28000											
TXLNB	0	.	GRCh38	chr6	139288733	139288733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtcgattcagctcttcaGagatatcggggtgcacactt	8	12	11	10	2	3	1	2	0	1	1	5	3	3	1	0	2	2	3	0	2	1	4	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.167C>T	p.Ser56Phe	p.S56F	ENST00000358430	2/10	505	457	48	641	641	0	strelka-varscan-mutect	TXLNB,missense_variant,p.Ser56Phe,ENST00000358430,NM_153235.3;RP11-445F6.2,downstream_gene_variant,,ENST00000441249,;RP11-445F6.2,downstream_gene_variant,,ENST00000440518,;	A	ENST00000358430	Transcript	missense_variant	400/4753	167/2055	56/684	S/F	tCt/tTt		1		-1	TXLNB	HGNC	HGNC:21617	protein_coding	YES	CCDS34545.1	ENSP00000351206	Q8N3L3		UPI0000072983	NM_153235.3	deleterious(0)		2/10		hmmpanther:PTHR16127,hmmpanther:PTHR16127:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	139288733	139288733	G	A	1	0	0	0	0	1	0	0	0	17304	942	33	3		3	TXLNB	6	139288733	Missense_Mutation	SNP	G	C3N-01842_TP	990040	139288733	31517246	147	28001											
NMBR	0	.	GRCh38	chr6	142088484	142088484	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagcatgatgttgcccaGcaagcccacggtgatgatga	11	7	11	12	1	0	4	0	4	0	0	0	4	0	4	3	1	4	3	3	1	1	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.175C>T	p.=	p.L59L	ENST00000258042	1/3	470	425	45	625	625	0	strelka-varscan-mutect	NMBR,synonymous_variant,p.=,ENST00000258042,NM_002511.2;RP11-137J7.2,intron_variant,,ENST00000454401,;	A	ENST00000258042	Transcript	synonymous_variant	316/1354	175/1173	59/390	L	Ctg/Ttg		1		-1	NMBR	HGNC	HGNC:7843	protein_coding	YES	CCDS5196.1	ENSP00000258042	P28336		UPI000013CFAB	NM_002511.2			1/3		Transmembrane_helices:TMhelix,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF53,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	142088484	142088484	G	A	1	0	0	0	0	0	0	0	1	10525	962	34	3		3	NMBR	6	142088484	Silent	SNP	G	C3N-01842_TP	2799751	142088484	28717495	148	28002											
SHPRH	0	.	GRCh38	chr6	145941688	145941688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctccaccactccacagctaCcagggggctcgggatagcca	9	5	10	17	1	0	0	0	0	0	0	3	1	2	1	6	3	3	2	6	3	2	2	rs555121048		C3N-01842_TP	C3N-01842_NB	C	C																c.2425G>C	p.Val809Leu	p.V809L	ENST00000367505	10/30	322	233	89	419	419	0	strelka-varscan-mutect	SHPRH,missense_variant,p.Val809Leu,ENST00000629427,;SHPRH,missense_variant,p.Val809Leu,ENST00000367505,;SHPRH,missense_variant,p.Val809Leu,ENST00000438092,NM_173082.3;SHPRH,missense_variant,p.Val809Leu,ENST00000275233,NM_001042683.2;SHPRH,3_prime_UTR_variant,,ENST00000367503,;SHPRH,missense_variant,p.Val698Leu,ENST00000519632,;SHPRH,3_prime_UTR_variant,,ENST00000433355,;SHPRH,downstream_gene_variant,,ENST00000521977,;	G	ENST00000367505	Transcript	missense_variant	2690/7201	2425/5052	809/1683	V/L	Gta/Cta	rs555121048	1		-1	SHPRH	HGNC	HGNC:19336	protein_coding	YES	CCDS43513.2	ENSP00000356475	Q149N8		UPI0000458A24		tolerated(0.14)		10/30		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552,Pfam_domain:PF00176,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		rs555121048	.												G	3	3	84	145941688	145941688	C	G	1	0	0	0	0	1	0	0	0	14554	507	18	4		4	SHPRH	6	145941688	Missense_Mutation	SNP	C	C3N-01842_TP	3853204	145941688	24864291	149	28003											
OPRM1	0	.	GRCh38	chr6	154090082	154090082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggccttagatttccgtactCcccgaaatgccaaaattatc	12	11	6	12	2	0	1	0	0	0	1	3	2	2	1	5	1	2	1	5	1	6	4	rs199564389		C3N-01842_TP	C3N-01842_NB	C	C																c.826C>A	p.Pro276Thr	p.P276T	ENST00000434900	4/6	343	295	48	426	424	2	strelka-varscan-mutect	OPRM1,missense_variant,p.Pro183Thr,ENST00000414028,NM_001145284.3;OPRM1,missense_variant,p.Pro83Thr,ENST00000522236,NM_001145287.2;OPRM1,missense_variant,p.Pro83Thr,ENST00000522555,NM_001285526.1;OPRM1,missense_variant,p.Pro183Thr,ENST00000435918,NM_001145283.2;OPRM1,missense_variant,p.Pro183Thr,ENST00000330432,NM_000914.4;OPRM1,missense_variant,p.Pro276Thr,ENST00000434900,NM_001145279.3,NM_001285524.1;OPRM1,missense_variant,p.Pro245Thr,ENST00000360422,NM_001285523.1;OPRM1,missense_variant,p.Pro83Thr,ENST00000520708,NM_001145280.3;OPRM1,missense_variant,p.Pro183Thr,ENST00000428397,NM_001008504.3;OPRM1,missense_variant,p.Pro183Thr,ENST00000229768,NM_001008505.2;OPRM1,missense_variant,p.Pro183Thr,ENST00000419506,NM_001145286.2;OPRM1,missense_variant,p.Pro183Thr,ENST00000337049,NM_001008503.2;OPRM1,missense_variant,p.Pro183Thr,ENST00000452687,NM_001145282.2;OPRM1,missense_variant,p.Pro183Thr,ENST00000524163,NM_001145285.2;OPRM1,missense_variant,p.Pro102Thr,ENST00000518759,NM_001145281.2;OPRM1,downstream_gene_variant,,ENST00000520282,;OPRM1,non_coding_transcript_exon_variant,,ENST00000522382,;OPRM1,non_coding_transcript_exon_variant,,ENST00000519613,;OPRM1,non_coding_transcript_exon_variant,,ENST00000521106,;OPRM1,missense_variant,p.Pro183Thr,ENST00000519083,;OPRM1,missense_variant,p.Pro183Thr,ENST00000522739,;OPRM1,intron_variant,,ENST00000524150,;	A	ENST00000434900	Transcript	missense_variant	1344/2033	826/1482	276/493	P/T	Ccc/Acc	rs199564389,COSM341436,COSM341437,COSM341438,COSM4510080,COSM4510081,COSM4510082,COSM4510083,COSM4510084,COSM4510085	1		1	OPRM1	HGNC	HGNC:8156	protein_coding	YES	CCDS47503.1	ENSP00000394624	P35372		UPI0001899627	NM_001145279.3,NM_001285524.1	deleterious(0.01)		4/6		PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF7,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00384											0,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1,1,1,1,1,1	1										PASS		rs199564389	.												A	3	1	84	154090082	154090082	C	A	1	0	0	0	0	1	0	0	0	10962	855	30	2		2	OPRM1	6	154090082	Missense_Mutation	SNP	C	C3N-01842_TP	8148394	154090082	16715897	150	28004											
T	0	.	GRCh38	chr6	166158546	166158546	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgctgcctgggagcccggGgtgacggcgccgttgctcac	3	7	17	14	4	1	1	1	1	0	0	1	2	1	2	3	4	4	4	3	4	0	1	rs775111459		C3N-01842_TP	C3N-01842_NB	G	G																c.1077C>A	p.=	p.T359T	ENST00000296946	9/9	89	79	10	109	109	0	strelka-varscan-mutect	T,synonymous_variant,p.=,ENST00000296946,NM_003181.3;T,synonymous_variant,p.=,ENST00000366871,NM_001270484.1;T,synonymous_variant,p.=,ENST00000366876,;	T	ENST00000296946	Transcript	synonymous_variant	1546/2436	1077/1308	359/435	T	acC/acA	rs775111459	1		-1	T	HGNC	HGNC:11515	protein_coding	YES	CCDS5290.1	ENSP00000296946	O15178		UPI0000126AB5	NM_003181.3			9/9		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF83																	LOW	1	SNV	5			1										PASS		rs775111459	.												T	2	4	84	166158546	166158546	G	T	1	0	0	0	0	0	0	0	1	15884	1219	43	2		2	T	6	166158546	Silent	SNP	G	C3N-01842_TP	12068464	166158546	4647433	151	28005											
CCR6	0	.	GRCh38	chr6	167137302	167137302	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtactcagaaaacatttctCggcagaccagtgagaccgca	13	7	10	11	2	2	3	1	1	1	3	3	4	2	3	2	2	2	3	2	2	3	2	rs188414355		C3N-01842_TP	C3N-01842_NB	C	C																c.1072C>A	p.=	p.R358R	ENST00000341935	3/3	214	158	56	272	272	0	strelka-varscan-mutect	CCR6,synonymous_variant,p.=,ENST00000341935,NM_031409.3;CCR6,synonymous_variant,p.=,ENST00000400926,NM_004367.5;CCR6,synonymous_variant,p.=,ENST00000349984,;RP11-517H2.6,non_coding_transcript_exon_variant,,ENST00000609590,;	A	ENST00000341935	Transcript	synonymous_variant	1624/4018	1072/1125	358/374	R	Cgg/Agg	rs188414355,COSM3622816	1		1	CCR6	HGNC	HGNC:1607	protein_coding	YES	CCDS5298.1	ENSP00000343952	P51684		UPI00000008CE	NM_031409.3			3/3		hmmpanther:PTHR10489,Prints_domain:PR01529											0,1						LOW	1	SNV	1		0,1	1										PASS		rs188414355	.												A	2	1	84	167137302	167137302	C	A	1	0	0	0	0	0	0	0	1	2645	875	31	1		1	CCR6	6	167137302	Silent	SNP	C	C3N-01842_TP	978756	167137302	3668677	152	28006											
KIF25	0	.	GRCh38	chr6	168033902	168033902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaatgtttgtgttatggCgtatggacagacgggcagcg	9	11	15	6	3	0	1	0	0	0	1	0	2	0	2	0	3	2	5	0	3	4	4	rs757300108		C3N-01842_TP	C3N-01842_NB	C	C																c.188C>A	p.Ala63Glu	p.A63E	ENST00000443060	5/10	197	149	48	218	216	2	strelka-varscan-mutect	KIF25,missense_variant,p.Ala63Glu,ENST00000443060,;KIF25,missense_variant,p.Ala63Glu,ENST00000354419,NM_030615.2;KIF25,missense_variant,p.Ala63Glu,ENST00000351261,NM_005355.3;KIF25,upstream_gene_variant,,ENST00000496008,;KIF25,downstream_gene_variant,,ENST00000515361,;KIF25,non_coding_transcript_exon_variant,,ENST00000504593,;	A	ENST00000443060	Transcript	missense_variant	579/1613	188/1155	63/384	A/E	gCg/gAg	rs757300108	1		1	KIF25	HGNC	HGNC:6390	protein_coding	YES	CCDS5305.1	ENSP00000388878	Q9UIL4		UPI000012DDAB		deleterious(0)		5/10		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF421,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380																	MODERATE	1	SNV	5			1										PASS		rs757300108	.												A	3	1	84	168033902	168033902	C	A	1	0	0	0	0	1	0	0	0	8158	768	27	1		1	KIF25	6	168033902	Missense_Mutation	SNP	C	C3N-01842_TP	896600	168033902	2772077	153	28007											
KIF25	0	.	GRCh38	chr6	168041981	168041981	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgcagcagaccaagcctGcagtgccaccctccccaggg	8	5	10	18	0	0	1	0	0	0	1	1	1	1	1	7	1	5	3	7	1	1	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.659G>C	p.Cys220Ser	p.C220S	ENST00000443060	8/10	126	92	34	194	194	0	strelka-varscan-mutect	KIF25,missense_variant,p.Cys220Ser,ENST00000443060,;KIF25,missense_variant,p.Cys220Ser,ENST00000354419,NM_030615.2;KIF25,missense_variant,p.Cys220Ser,ENST00000351261,NM_005355.3;	C	ENST00000443060	Transcript	missense_variant	1050/1613	659/1155	220/384	C/S	tGc/tCc		1		1	KIF25	HGNC	HGNC:6390	protein_coding	YES	CCDS5305.1	ENSP00000388878	Q9UIL4		UPI000012DDAB		tolerated(0.45)		8/10		PROSITE_profiles:PS50067,Pfam_domain:PF00225,SMART_domains:SM00129																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	84	168041981	168041981	G	C	1	0	0	0	0	1	0	0	0	8158	1319	46	4		4	KIF25	6	168041981	Missense_Mutation	SNP	G	C3N-01842_TP	8079	168041981	2763998	154	28008											
SDK1	0	.	GRCh38	chr7	4079506	4079506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggtcatttccaacatcagCcctcgctccgccacccttca	7	10	5	19	2	3	0	3	0	0	0	6	0	5	0	5	1	2	1	5	1	1	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.3246C>A	p.Ser1082Arg	p.S1082R	ENST00000404826	22/45	209	173	36	260	259	1	strelka-varscan-mutect	SDK1,missense_variant,p.Ser1082Arg,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Ser1082Arg,ENST00000615806,;SDK1,missense_variant,p.Ser1082Arg,ENST00000389531,;	A	ENST00000404826	Transcript	missense_variant	3385/10397	3246/6642	1082/2213	S/R	agC/agA		1		1	SDK1	HGNC	HGNC:19307	protein_coding	YES	CCDS34590.1	ENSP00000385899	Q7Z5N4		UPI0000DBEEC4	NM_152744.3	deleterious(0.04)		22/45		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF36,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		rs1458568305	.												A	3	1	84	4079506	4079506	C	A	1	0	0	0	0	1	0	0	0	14243	738	26	2		2	SDK1	7	4079506	Missense_Mutation	SNP	C	C3N-01842_TP		4079506	155266467	155	28009											
SCIN	0	.	GRCh38	chr7	12578189	12578189	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgagtctaatgactttgttAgctatttcaaaggcggtctg	10	15	10	6	1	3	2	1	2	2	0	3	2	3	2	0	2	1	2	0	2	4	5	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.325A>G	p.Ser109Gly	p.S109G	ENST00000297029	2/16	156	125	31	152	152	0	strelka-varscan-mutect	SCIN,missense_variant,p.Ser109Gly,ENST00000297029,NM_001112706.2;SCIN,missense_variant,p.Ser136Gly,ENST00000417018,;SCIN,missense_variant,p.Ser109Gly,ENST00000341757,;SCIN,downstream_gene_variant,,ENST00000436854,;	G	ENST00000297029	Transcript	missense_variant	426/9713	325/2148	109/715	S/G	Agc/Ggc		1		1	SCIN	HGNC	HGNC:21695	protein_coding	YES	CCDS47545.1	ENSP00000297029	Q9Y6U3		UPI000013C4DF	NM_001112706.2	tolerated(1)		2/16		Gene3D:3.40.20.10,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF14,SMART_domains:SM00262,Superfamily_domains:SSF55753																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	12578189	12578189	A	G	1	0	0	0	0	1	0	0	0	14174	420	15	5		5	SCIN	7	12578189	Missense_Mutation	SNP	A	C3N-01842_TP	8498683	12578189	146767784	156	28010											
CHN2	0	.	GRCh38	chr7	29398456	29398456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccttagagaaagccagcGgcaaccaggatgctacacgc	13	5	10	13	2	0	1	0	0	0	1	1	3	1	2	3	2	5	2	3	2	4	2	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.260G>T	p.Arg87Leu	p.R87L	ENST00000222792	5/13	248	194	54	304	303	1	strelka-varscan-mutect	CHN2,missense_variant,p.Arg87Leu,ENST00000222792,NM_004067.3,NM_001293071.1,NM_001293070.1,NM_001293072.1;CHN2,missense_variant,p.Arg87Leu,ENST00000495789,;CHN2,missense_variant,p.Arg162Leu,ENST00000439384,;CHN2,missense_variant,p.Arg87Leu,ENST00000539389,;CHN2,missense_variant,p.Arg87Leu,ENST00000539406,;CHN2,missense_variant,p.Arg100Leu,ENST00000409350,;CHN2,intron_variant,,ENST00000435288,;CHN2,upstream_gene_variant,,ENST00000446446,;CHN2,non_coding_transcript_exon_variant,,ENST00000409922,;CHN2,non_coding_transcript_exon_variant,,ENST00000412536,;CHN2,non_coding_transcript_exon_variant,,ENST00000409964,;CHN2,non_coding_transcript_exon_variant,,ENST00000482820,;CHN2,non_coding_transcript_exon_variant,,ENST00000478128,;CHN2,missense_variant,p.Gly121Cys,ENST00000474070,;CHN2,non_coding_transcript_exon_variant,,ENST00000491856,;	T	ENST00000222792	Transcript	missense_variant	790/3530	260/1407	87/468	R/L	cGg/cTg		1		1	CHN2	HGNC	HGNC:1944	protein_coding	YES	CCDS5420.1	ENSP00000222792	P52757		UPI000012781F	NM_004067.3,NM_001293071.1,NM_001293070.1,NM_001293072.1	deleterious(0.01)		5/13		PROSITE_profiles:PS50001,hmmpanther:PTHR23176,hmmpanther:PTHR23176:SF35,Pfam_domain:PF00017,PIRSF_domain:PIRSF038015,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550																	MODERATE	1	SNV	1			1										PASS		rs1454857779	.												T	3	4	84	29398456	29398456	G	T	1	0	0	0	0	1	0	0	0	3123	1116	39	1		1	CHN2	7	29398456	Missense_Mutation	SNP	G	C3N-01842_TP	16820267	29398456	129947517	157	28011											
POU6F2	0	.	GRCh38	chr7	39085900	39085900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcagtaagcccttgctgtCagtgcggagtgaaatgaatg	11	10	13	7	1	2	2	2	2	0	0	2	3	2	3	1	1	3	2	1	1	3	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.59C>T	p.Ser20Leu	p.S20L	ENST00000403058	3/11	301	234	67	407	407	0	strelka-varscan-mutect	POU6F2,missense_variant,p.Ser20Leu,ENST00000518318,NM_001166018.1;POU6F2,missense_variant,p.Ser12Leu,ENST00000559001,;POU6F2,missense_variant,p.Ser20Leu,ENST00000403058,NM_007252.3;POU6F2,missense_variant,p.Ser12Leu,ENST00000524147,;POU6F2,missense_variant,p.Ser12Leu,ENST00000520104,;POU6F2,missense_variant,p.Ser21Leu,ENST00000451021,;POU6F2,non_coding_transcript_exon_variant,,ENST00000517348,;POU6F2,non_coding_transcript_exon_variant,,ENST00000464276,;	T	ENST00000403058	Transcript	missense_variant	213/2335	59/2076	20/691	S/L	tCa/tTa		1		1	POU6F2	HGNC	HGNC:21694	protein_coding	YES	CCDS34620.2	ENSP00000384004	P78424		UPI0000480E81	NM_007252.3	deleterious_low_confidence(0)		3/11		hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF68																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	84	39085900	39085900	C	T	1	0	0	0	0	1	0	0	0	12401	838	29	3		3	POU6F2	7	39085900	Missense_Mutation	SNP	C	C3N-01842_TP	9687444	39085900	120260073	158	28012											
HECW1	0	.	GRCh38	chr7	43508999	43508999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcccctcgcgggagttCttcttccttctgtctcagga	4	13	11	13	2	4	0	1	0	4	0	7	2	5	2	3	3	0	1	3	3	0	4			C3N-01842_TP	C3N-01842_NB	C	C																c.3897C>A	p.Phe1299Leu	p.F1299L	ENST00000395891	24/30	231	185	46	209	209	0	strelka-varscan-mutect	HECW1,missense_variant,p.Phe1299Leu,ENST00000395891,NM_015052.4;HECW1,missense_variant,p.Phe1265Leu,ENST00000453890,NM_001287059.1;HECW1,intron_variant,,ENST00000429529,;AC011738.4,non_coding_transcript_exon_variant,,ENST00000436105,;	A	ENST00000395891	Transcript	missense_variant	4502/9501	3897/4821	1299/1606	F/L	ttC/ttA	COSM261252,COSM4689935,COSM4689936	1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4	deleterious(0.03)		24/30		PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254,SMART_domains:SM00119,Superfamily_domains:SSF56204											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	84	43508999	43508999	C	A	1	0	0	0	0	1	0	0	0	6924	912	32	2		2	HECW1	7	43508999	Missense_Mutation	SNP	C	C3N-01842_TP	4423099	43508999	115836974	159	28013											
POM121L12	0	.	GRCh38	chr7	53036514	53036514	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcagctgcagtagggtCtccttcgccctcgaggtcac	5	9	13	14	3	2	0	1	0	1	0	5	1	2	0	2	3	3	4	2	3	1	2	rs766989780		C3N-01842_TP	C3N-01842_NB	C	C																c.843C>A	p.=	p.V281V	ENST00000408890	1/1	109	87	22	127	127	0	varscan-mutect	POM121L12,synonymous_variant,p.=,ENST00000408890,NM_182595.3;	A	ENST00000408890	Transcript	synonymous_variant	873/1283	843/891	281/296	V	gtC/gtA	rs766989780	1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3			1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30																	LOW	1	SNV				1										PASS		rs766989780	.												A	2	1	84	53036514	53036514	C	A	1	0	0	0	0	0	0	0	1	12352	900	32	2		2	POM121L12	7	53036514	Silent	SNP	C	C3N-01842_TP	9527515	53036514	106309459	160	28014											
WBSCR17	0	.	GRCh38	chr7	71415961	71415961	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggtggtaagaaatcAgaagagggaaggcctgatcc	14	6	16	5	0	1	5	1	2	0	3	2	6	2	6	2	5	0	1	2	5	5	1	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.662A>T	p.Gln221Leu	p.Q221L	ENST00000333538	4/11	183	140	43	208	208	0	strelka-varscan-mutect	WBSCR17,missense_variant,p.Gln221Leu,ENST00000333538,NM_022479.2;WBSCR17,missense_variant,p.Gln142Leu,ENST00000618959,;WBSCR17,downstream_gene_variant,,ENST00000447516,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;	T	ENST00000333538	Transcript	missense_variant	1296/3884	662/1797	221/598	Q/L	cAg/cTg		1		1	WBSCR17	HGNC	HGNC:16347	protein_coding	YES	CCDS5540.1	ENSP00000329654	Q6IS24	Q2L4S5	UPI00000502D5	NM_022479.2	tolerated(0.06)		4/11		Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	71415961	71415961	A	T	1	0	0	0	0	1	0	0	0	17823	188	7	4		4	WBSCR17	7	71415961	Missense_Mutation	SNP	A	C3N-01842_TP	18379447	71415961	87930012	161	28015											
SPDYE5	0	.	GRCh38	chr7	75501540	75501540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatacccttgctccgtaagCgtcggttccagttaggccgt	6	11	11	13	4	0	0	0	0	0	0	3	0	2	0	4	2	3	5	4	2	3	5	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.934C>A	p.Arg312Ser	p.R312S	ENST00000625065	6/8	256	190	66	312	311	1	strelka-varscan-mutect	SPDYE5,missense_variant,p.Arg312Ser,ENST00000625065,;SPDYE5,missense_variant,p.Arg312Ser,ENST00000455862,;SPDYE5,intron_variant,,ENST00000624640,NM_001099435.2;PMS2P3,downstream_gene_variant,,ENST00000529061,;	A	ENST00000625065	Transcript	missense_variant	1357/1700	934/1209	312/402	R/S	Cgt/Agt		1		1	SPDYE5	HGNC	HGNC:35464	protein_coding	YES	CCDS78241.1	ENSP00000485398		A0A096LPK5	UPI000387D8EA		tolerated_low_confidence(0.48)		6/8																			MODERATE	1	SNV	5			1										PASS		rs1296859227	.												A	3	1	84	75501540	75501540	C	A	1	0	0	0	0	1	0	0	0	15381	768	27	1		1	SPDYE5	7	75501540	Missense_Mutation	SNP	C	C3N-01842_TP	4085579	75501540	83844433	162	28016											
SPDYE5	0	.	GRCh38	chr7	75501559	75501559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcggttccagttaggccGttccatgaacccgagggcca	7	8	13	13	4	0	1	0	1	0	0	3	2	2	1	5	3	1	3	5	3	2	3	rs782266846		C3N-01842_TP	C3N-01842_NB	G	G																c.953G>T	p.Arg318Leu	p.R318L	ENST00000625065	6/8	431	359	72	545	543	2	strelka-varscan-mutect	SPDYE5,missense_variant,p.Arg253Leu,ENST00000624640,NM_001099435.2;SPDYE5,missense_variant,p.Arg318Leu,ENST00000625065,;SPDYE5,missense_variant,p.Arg318Leu,ENST00000455862,;PMS2P3,downstream_gene_variant,,ENST00000529061,;	T	ENST00000625065	Transcript	missense_variant	1376/1700	953/1209	318/402	R/L	cGt/cTt	rs782266846	1		1	SPDYE5	HGNC	HGNC:35464	protein_coding	YES	CCDS78241.1	ENSP00000485398		A0A096LPK5	UPI000387D8EA		tolerated_low_confidence(0.64)		6/8																			MODERATE	1	SNV	5			1										PASS		rs782266846	.												T	3	4	84	75501559	75501559	G	T	1	0	0	0	0	1	0	0	0	15381	1145	40	1		1	SPDYE5	7	75501559	Missense_Mutation	SNP	G	C3N-01842_TP	19	75501559	83844414	163	28017											
LMTK2	0	.	GRCh38	chr7	98141398	98141398	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctctctttcattttaggAatttgaagataattttgatg	10	20	7	4	0	2	3	1	2	1	1	3	4	2	4	0	1	1	1	0	1	4	8	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.233A>G	p.Glu78Gly	p.E78G	ENST00000297293	3/14	176	142	34	161	160	1	varscan-mutect	LMTK2,missense_variant,p.Glu78Gly,ENST00000297293,NM_014916.3;LMTK2,splice_region_variant,,ENST00000493372,;	G	ENST00000297293	Transcript	missense_variant,splice_region_variant	526/8946	233/4512	78/1503	E/G	gAa/gGa		1		1	LMTK2	HGNC	HGNC:17880	protein_coding	YES	CCDS5654.1	ENSP00000297293	Q8IWU2		UPI000014F277	NM_014916.3	deleterious(0)		3/14		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF357,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	98141398	98141398	A	G	1	0	0	0	0	1	0	0	0	8786	260	9	5		5	LMTK2	7	98141398	Missense_Mutation	SNP	A	C3N-01842_TP	22639839	98141398	61204575	164	28018											
GPR85	0	.	GRCh38	chr7	113083899	113083899	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctccattttgaactcgtCtaagaccaatagccttcttc	9	16	4	12	1	3	2	0	1	3	1	6	2	3	2	3	0	2	0	3	0	4	7	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.823G>C	p.Asp275His	p.D275H	ENST00000297146	3/3	435	396	39	405	405	0	strelka-varscan-mutect	GPR85,missense_variant,p.Asp275His,ENST00000297146,NM_001146265.1,NM_018970.6;GPR85,missense_variant,p.Asp275His,ENST00000424100,NM_001146267.1;GPR85,missense_variant,p.Asp275His,ENST00000449591,NM_001146266.1;GPR85,downstream_gene_variant,,ENST00000438062,;GPR85,downstream_gene_variant,,ENST00000449735,;GPR85,downstream_gene_variant,,ENST00000487573,;GPR85,missense_variant,p.Asp275His,ENST00000610164,;	G	ENST00000297146	Transcript	missense_variant	1427/5079	823/1113	275/370	D/H	Gac/Cac		1		-1	GPR85	HGNC	HGNC:4536	protein_coding	YES	CCDS5758.1	ENSP00000297146	P60893	A4D0T8	UPI0000004048	NM_001146265.1,NM_018970.6	deleterious(0.01)		3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF7,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	113083899	113083899	C	G	1	0	0	0	0	1	0	0	0	6596	913	32	4		4	GPR85	7	113083899	Missense_Mutation	SNP	C	C3N-01842_TP	14942501	113083899	46262074	165	28019											
SLC13A1	0	.	GRCh38	chr7	123115532	123115532	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttattatggcatggtctCattactcatagcaggagccc	9	13	9	10	0	2	0	2	0	1	0	3	1	2	1	1	3	4	3	1	3	4	4			C3N-01842_TP	C3N-01842_NB	C	C																c.1774G>C	p.Glu592Gln	p.E592Q	ENST00000194130	15/15	183	166	17	185	185	0	strelka-varscan-mutect	SLC13A1,missense_variant,p.Glu592Gln,ENST00000194130,NM_022444.3;SLC13A1,3_prime_UTR_variant,,ENST00000539873,;SLC13A1,3_prime_UTR_variant,,ENST00000427975,;SLC13A1,3_prime_UTR_variant,,ENST00000439260,;	G	ENST00000194130	Transcript	missense_variant	1814/3815	1774/1788	592/595	E/Q	Gag/Cag	COSM4842796	1		-1	SLC13A1	HGNC	HGNC:10916	protein_coding	YES	CCDS5786.1	ENSP00000194130	Q9BZW2	A4D0X1	UPI0000049F9D	NM_022444.3	tolerated(0.68)		15/15		hmmpanther:PTHR10283:SF65,hmmpanther:PTHR10283											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	84	123115532	123115532	C	G	1	0	0	0	0	1	0	0	0	14656	835	29	4		4	SLC13A1	7	123115532	Missense_Mutation	SNP	C	C3N-01842_TP	10031633	123115532	36230441	166	28020											
LEP	0	.	GRCh38	chr7	128254614	128254614	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttctctaagagctgccacTtgccctgggccagtggcctg	5	10	11	15	0	1	1	0	0	1	1	2	1	1	1	5	2	3	1	5	2	1	3	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.355T>C	p.=	p.L119L	ENST00000308868	3/3	388	293	95	448	447	1	strelka-varscan-mutect	LEP,synonymous_variant,p.=,ENST00000308868,NM_000230.2;	C	ENST00000308868	Transcript	synonymous_variant	406/3420	355/504	119/167	L	Ttg/Ctg		1		1	LEP	HGNC	HGNC:6553	protein_coding	YES	CCDS5800.1	ENSP00000312652	P41159	A4D0Y8	UPI00000308D4	NM_000230.2			3/3		hmmpanther:PTHR11724:SF1,hmmpanther:PTHR11724,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF001837,Pfam_domain:PF02024,Superfamily_domains:SSF47266,Prints_domain:PR00495,PD005698																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	84	128254614	128254614	T	C	1	0	0	0	0	0	0	0	1	8635	1606	56	5		5	LEP	7	128254614	Silent	SNP	T	C3N-01842_TP	5139082	128254614	31091359	167	28021											
FLNC	0	.	GRCh38	chr7	128844728	128844728	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccattctccatcgacaccaAgggggctggcacaggtggcc	8	6	13	14	1	1	0	0	0	1	0	3	1	1	0	4	5	0	2	4	5	1	1	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.3263A>G	p.Lys1088Arg	p.K1088R	ENST00000325888	21/48	243	177	66	266	265	1	strelka-varscan-mutect	FLNC,missense_variant,p.Lys1088Arg,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Lys1088Arg,ENST00000346177,NM_001127487.1;FLNC,downstream_gene_variant,,ENST00000388853,;	G	ENST00000325888	Transcript	missense_variant	3524/9188	3263/8178	1088/2725	K/R	aAg/aGg		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4	tolerated(0.21)		21/48		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	128844728	128844728	A	G	1	0	0	0	0	1	0	0	0	5791	72	3	5		5	FLNC	7	128844728	Missense_Mutation	SNP	A	C3N-01842_TP	590114	128844728	30501245	168	28022											
TMEM209	0	.	GRCh38	chr7	130173867	130173867	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagtgctgagaagtaaaagTttttccgtcgggatacttcg	12	12	11	6	3	0	1	0	1	0	1	3	3	1	2	1	1	2	3	1	1	5	5	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.1417A>G	p.Thr473Ala	p.T473A	ENST00000397622	12/15	321	260	61	276	276	0	strelka-varscan-mutect	TMEM209,missense_variant,p.Thr473Ala,ENST00000397622,NM_032842.3;TMEM209,missense_variant,p.Thr472Ala,ENST00000462753,;TMEM209,missense_variant,p.Thr431Ala,ENST00000473456,NM_001301163.1;RP11-775D22.3,non_coding_transcript_exon_variant,,ENST00000483283,;TMEM209,downstream_gene_variant,,ENST00000467599,;TMEM209,downstream_gene_variant,,ENST00000479804,;	C	ENST00000397622	Transcript	missense_variant	1540/3545	1417/1686	473/561	T/A	Act/Gct		1		-1	TMEM209	HGNC	HGNC:21898	protein_coding	YES	CCDS47712.1	ENSP00000380747	Q96SK2	A0A140VJX5	UPI000020FAA2	NM_032842.3	deleterious(0.02)		12/15		Pfam_domain:PF09786,hmmpanther:PTHR21780,hmmpanther:PTHR21780:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	84	130173867	130173867	T	C	1	0	0	0	0	1	0	0	0	16573	1725	60	5		5	TMEM209	7	130173867	Missense_Mutation	SNP	T	C3N-01842_TP	1329139	130173867	29172106	169	28023											
PLXNA4	0	.	GRCh38	chr7	132187554	132187554	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcctgtgatggtcacttgGgtccctccggacatgggccc	4	10	14	13	1	1	1	1	1	0	0	3	2	3	2	4	4	1	0	4	4	0	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.2910C>G	p.=	p.T970T	ENST00000359827	15/32	145	128	17	191	190	1	strelka-varscan-mutect	PLXNA4,synonymous_variant,p.=,ENST00000359827,;PLXNA4,synonymous_variant,p.=,ENST00000321063,NM_020911.1;	C	ENST00000359827	Transcript	synonymous_variant	3873/13786	2910/5685	970/1894	T	acC/acG		1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B				15/32		Gene3D:2.60.40.10,Pfam_domain:PF01833,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,SMART_domains:SM00429,Superfamily_domains:SSF81296																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	84	132187554	132187554	G	C	1	0	0	0	0	0	0	0	1	12228	1219	43	4		4	PLXNA4	7	132187554	Silent	SNP	G	C3N-01842_TP	2013687	132187554	27158419	170	28024											
PLXNA4	0	.	GRCh38	chr7	132210984	132210984	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggagctgttgaagcgcaGggcgggcactcgctgctcgc	5	7	17	12	4	0	1	0	1	0	0	2	2	0	2	0	3	3	7	0	3	1	1	rs544399380		C3N-01842_TP	C3N-01842_NB	G	G																c.2257C>A	p.Leu753Met	p.L753M	ENST00000359827	10/32	237	189	48	256	256	0	strelka-varscan-mutect	PLXNA4,missense_variant,p.Leu753Met,ENST00000359827,;PLXNA4,missense_variant,p.Leu753Met,ENST00000321063,NM_020911.1;	T	ENST00000359827	Transcript	missense_variant	3220/13786	2257/5685	753/1894	L/M	Ctg/Atg	rs544399380	1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B		deleterious(0.02)		10/32		hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34																	MODERATE	1	SNV	5			1										PASS		rs544399380	.												T	3	4	84	132210984	132210984	G	T	1	0	0	0	0	1	0	0	0	12228	991	35	2		2	PLXNA4	7	132210984	Missense_Mutation	SNP	G	C3N-01842_TP	23430	132210984	27134989	171	28025											
NUP205	0	.	GRCh38	chr7	135577872	135577872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcttgccagtcacctttagGcaaagaagacactctcctcc	10	9	8	14	0	2	2	1	0	1	2	4	2	3	2	4	2	1	2	4	2	3	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.725G>T	p.Gly242Val	p.G242V	ENST00000285968	6/43	374	282	92	414	414	0	strelka-varscan-mutect	NUP205,missense_variant,p.Gly242Val,ENST00000285968,NM_015135.2;NUP205,downstream_gene_variant,,ENST00000489493,;	T	ENST00000285968	Transcript	missense_variant	751/6266	725/6039	242/2012	G/V	gGc/gTc		1		1	NUP205	HGNC	HGNC:18658	protein_coding	YES	CCDS34759.1	ENSP00000285968	Q92621		UPI00001D74D8	NM_015135.2	tolerated(0.06)		6/43		Pfam_domain:PF11894,hmmpanther:PTHR31344,hmmpanther:PTHR31344:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	135577872	135577872	G	T	1	0	0	0	0	1	0	0	0	10824	1203	42	2		2	NUP205	7	135577872	Missense_Mutation	SNP	G	C3N-01842_TP	3366888	135577872	23768101	172	28026											
DENND2A	0	.	GRCh38	chr7	140601481	140601481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggggagaggagggcagaGgcgggggaggtagagagggc	9	2	27	3	1	0	3	0	0	0	3	0	7	0	5	0	9	0	2	0	9	1	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.917C>A	p.Pro306His	p.P306H	ENST00000275884	2/19	130	106	24	143	143	0	strelka-varscan-mutect	DENND2A,missense_variant,p.Pro306His,ENST00000275884,NM_001318052.1;DENND2A,missense_variant,p.Pro306His,ENST00000492720,NM_001318053.1;DENND2A,missense_variant,p.Pro306His,ENST00000496613,;DENND2A,missense_variant,p.Pro306His,ENST00000537639,NM_015689.3;DENND2A,intron_variant,,ENST00000475837,;DENND2A,downstream_gene_variant,,ENST00000491728,;DENND2A,downstream_gene_variant,,ENST00000477488,;DENND2A,downstream_gene_variant,,ENST00000489552,;DENND2A,missense_variant,p.Pro306His,ENST00000461883,;	T	ENST00000275884	Transcript	missense_variant	1335/3735	917/3030	306/1009	P/H	cCt/cAt		1		-1	DENND2A	HGNC	HGNC:22212	protein_coding	YES	CCDS43659.1	ENSP00000275884	Q9ULE3		UPI00001C1E63	NM_001318052.1	deleterious(0.03)		2/19		Low_complexity_(Seg):seg,hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	140601481	140601481	G	T	1	0	0	0	0	1	0	0	0	4233	1000	35	2		2	DENND2A	7	140601481	Missense_Mutation	SNP	G	C3N-01842_TP	5023609	140601481	18744492	173	28027											
BRAF	0	.	GRCh38	chr7	140753349	140753349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttcactgtagctagacCaaaatcacctatttttactg	13	14	5	9	0	2	2	2	0	0	2	2	2	2	2	2	0	2	2	2	0	6	7	rs121913361		C3N-01842_TP	C3N-01842_NB	C	C																c.1786G>C	p.Gly596Arg	p.G596R	ENST00000288602	15/18	557	435	122	507	507	0	strelka-varscan-mutect	BRAF,missense_variant,p.Gly204Arg,ENST00000496384,;BRAF,missense_variant,p.Gly596Arg,ENST00000288602,NM_004333.4;BRAF,missense_variant,p.Gly24Arg,ENST00000479537,;BRAF,3_prime_UTR_variant,,ENST00000497784,;	G	ENST00000288602	Transcript	missense_variant	1847/2480	1786/2301	596/766	G/R	Ggt/Cgt	rs121913361,COSM36922,COSM469,COSM5329314	1		-1	BRAF	HGNC	HGNC:1097	protein_coding	YES	CCDS5863.1	ENSP00000288602	P15056		UPI000013DF26	NM_004333.4	deleterious(0.01)		15/18		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF43,SMART_domains:SM00220,Superfamily_domains:SSF56112										uncertain_significance	0,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs121913361	.												G	3	3	84	140753349	140753349	C	G	1	0	0	0	0	1	0	0	0	1665	594	21	4		4	BRAF	7	140753349	Missense_Mutation	SNP	C	C3N-01842_TP	151868	140753349	18592624	174	28028											
MGAM2	0	.	GRCh38	chr7	142220771	142220771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccactatgccttctcctaCaagtagtactactgtgagta	11	13	6	11	0	1	1	0	1	1	0	2	1	1	1	3	0	5	3	3	0	8	8	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.6260C>A	p.Thr2087Lys	p.T2087K	ENST00000477922	48/48	325	245	80	223	222	1	strelka-varscan-mutect	MGAM2,missense_variant,p.Thr2087Lys,ENST00000477922,NM_001293626.1;MGAM2,non_coding_transcript_exon_variant,,ENST00000496337,;	A	ENST00000477922	Transcript	missense_variant	6314/7867	6260/7548	2087/2515	T/K	aCa/aAa		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	tolerated_low_confidence(0.07)		48/48		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	84	142220771	142220771	C	A	1	0	0	0	0	1	0	0	0	9500	478	17	2		2	MGAM2	7	142220771	Missense_Mutation	SNP	C	C3N-01842_TP	1467422	142220771	17125202	175	28029											
OR9A2	0	.	GRCh38	chr7	143026477	143026477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgggatcttgaggatggtgGagataatgtaggtgtaggag	11	10	18	2	1	1	2	0	1	1	1	1	6	1	5	0	6	0	2	0	6	3	4	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.656C>T	p.Ser219Phe	p.S219F	ENST00000350513	1/1	453	350	103	423	423	0	strelka-varscan-mutect	OR9A2,missense_variant,p.Ser219Phe,ENST00000350513,NM_001001658.1;	A	ENST00000350513	Transcript	missense_variant	719/1038	656/933	219/310	S/F	tCc/tTc		1		-1	OR9A2	HGNC	HGNC:15093	protein_coding	YES	CCDS34767.1	ENSP00000316518	Q8NGT5		UPI0000041C18	NM_001001658.1	tolerated(0.08)		1/1		Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF216,hmmpanther:PTHR24242,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	84	143026477	143026477	G	A	1	0	0	0	0	1	0	0	0	11315	1174	41	3		3	OR9A2	7	143026477	Missense_Mutation	SNP	G	C3N-01842_TP	805706	143026477	16319496	176	28030											
CNTNAP2	0	.	GRCh38	chr7	147121106	147121106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attaacctcactctggacagGagcatgcagcacttccgtac	11	9	8	13	1	2	0	1	0	1	0	3	2	3	2	2	2	5	4	2	2	2	3	rs370716351		C3N-01842_TP	C3N-01842_NB	G	G																c.882G>T	p.Arg294Ser	p.R294S	ENST00000361727	6/24	306	230	76	355	355	0	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Arg294Ser,ENST00000361727,NM_014141.5;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637694,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637825,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636561,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637150,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637555,;	T	ENST00000361727	Transcript	missense_variant	1400/9896	882/3996	294/1331	R/S	agG/agT	rs370716351	1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	tolerated(0.19)		6/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs370716351	.												T	3	4	84	147121106	147121106	G	T	1	0	0	0	0	1	0	0	0	3428	1165	41	2		2	CNTNAP2	7	147121106	Missense_Mutation	SNP	G	C3N-01842_TP	4094629	147121106	12224867	177	28031											
ZNF212	0	.	GRCh38	chr7	149253787	149253787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagaactgtgggctGcccgaagcagaaatctcata	13	6	11	11	1	1	2	1	0	1	2	2	3	1	2	1	1	5	4	1	1	4	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.860G>T	p.Cys287Phe	p.C287F	ENST00000335870	5/5	485	391	94	590	589	1	strelka-varscan-mutect	ZNF212,missense_variant,p.Cys287Phe,ENST00000335870,NM_012256.3;ZNF212,downstream_gene_variant,,ENST00000481584,;ZNF212,3_prime_UTR_variant,,ENST00000488917,;ZNF212,downstream_gene_variant,,ENST00000462724,;ZNF212,downstream_gene_variant,,ENST00000486371,;	T	ENST00000335870	Transcript	missense_variant	988/2810	860/1488	287/495	C/F	tGc/tTc		1		1	ZNF212	HGNC	HGNC:13004	protein_coding	YES	CCDS5896.1	ENSP00000338572	Q9UDV6	A0A090N8N3	UPI000013CEE2	NM_012256.3	tolerated(0.46)		5/5		hmmpanther:PTHR24390:SF49,hmmpanther:PTHR24390																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	149253787	149253787	G	T	1	0	0	0	0	1	0	0	0	18345	1319	46	2		2	ZNF212	7	149253787	Missense_Mutation	SNP	G	C3N-01842_TP	2132681	149253787	10092186	178	28032											
ZNF705G	0	.	GRCh38	chr8	7360332	7360332	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggatttgcttatctggtacCctgttagtggaaagaataca	12	13	10	6	0	1	1	0	0	1	1	1	3	1	3	1	3	3	3	1	3	6	5	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.140G>T	p.Gly47Val	p.G47V	ENST00000400156	5/7	624	490	134	533	532	1	strelka-varscan-mutect	ZNF705G,missense_variant,p.Gly47Val,ENST00000400156,NM_001164457.1;FAM66B,upstream_gene_variant,,ENST00000606573,;FAM66B,upstream_gene_variant,,ENST00000529456,;	A	ENST00000400156	Transcript	missense_variant,splice_region_variant	422/3644	140/903	47/300	G/V	gGg/gTg		1		-1	ZNF705G	HGNC	HGNC:37134	protein_coding	YES	CCDS47773.1	ENSP00000383020	A8MUZ8		UPI0001761700	NM_001164457.1	deleterious(0)		5/7		PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF19,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637																	MODERATE	1	SNV	2			1										PASS		rs1434974132	.												A	3	1	84	7360332	7360332	C	A	1	0	0	0	0	1	0	0	0	18684	637	22	2		2	ZNF705G	8	7360332	Missense_Mutation	SNP	C	C3N-01842_TP		7360332	137778304	179	28033											
SNTG1	0	.	GRCh38	chr8	50536714	50536714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgtggccgacgtctccaGgcttgaggtgggagaagcga	7	7	17	10	5	1	2	0	1	1	1	3	5	1	2	2	4	1	1	2	4	1	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.586G>T	p.Gly196Cys	p.G196C	ENST00000522124	11/19	277	212	65	345	345	0	strelka-varscan-mutect	SNTG1,missense_variant,p.Gly196Cys,ENST00000522124,NM_018967.3;SNTG1,missense_variant,p.Gly196Cys,ENST00000518864,NM_001287813.1;SNTG1,missense_variant,p.Gly196Cys,ENST00000517473,NM_001287814.1;SNTG1,missense_variant,p.Gly196Cys,ENST00000520825,;	T	ENST00000522124	Transcript	missense_variant	1247/3504	586/1554	196/517	G/C	Ggc/Tgc		1		1	SNTG1	HGNC	HGNC:13740	protein_coding	YES	CCDS6147.1	ENSP00000429842	Q9NSN8	A0A024R7Y0	UPI000004A0DD	NM_018967.3	tolerated(0.06)		11/19		hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF2,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	50536714	50536714	G	T	1	0	0	0	0	1	0	0	0	15194	1000	35	2		2	SNTG1	8	50536714	Missense_Mutation	SNP	G	C3N-01842_TP	43176382	50536714	94601922	180	28034											
CHD7	0	.	GRCh38	chr8	60836207	60836207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccaaaactgaaggctGgtggccacagggtgcttatc	9	9	13	10	0	0	1	0	1	0	0	1	1	0	1	2	4	4	3	2	4	4	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.3913G>T	p.Gly1305Cys	p.G1305C	ENST00000423902	16/38	306	219	87	386	386	0	strelka-varscan-mutect	CHD7,missense_variant,p.Gly1305Cys,ENST00000423902,NM_017780.3;CHD7,intron_variant,,ENST00000524602,;	T	ENST00000423902	Transcript	missense_variant	4392/11568	3913/8994	1305/2997	G/C	Ggt/Tgt		1		1	CHD7	HGNC	HGNC:20626	protein_coding	YES	CCDS47865.1	ENSP00000392028	Q9P2D1		UPI0000251DA6	NM_017780.3	deleterious(0)		16/38		PROSITE_profiles:PS51194,hmmpanther:PTHR10799:SF658,hmmpanther:PTHR10799,Pfam_domain:PF00271,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		rs1246333602	.												T	3	4	84	60836207	60836207	G	T	1	0	0	0	0	1	0	0	0	3089	1348	47	2		2	CHD7	8	60836207	Missense_Mutation	SNP	G	C3N-01842_TP	10299493	60836207	84302429	181	28035											
NCOA2	0	.	GRCh38	chr8	70121371	70121371	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgggaacaggttgcctccCctcagagcaggatcattaac	10	10	10	11	0	2	1	2	0	0	1	3	3	3	3	3	3	4	2	3	3	2	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.4314G>T	p.Arg1438Ser	p.R1438S	ENST00000452400	22/23	310	254	56	356	356	0	strelka-varscan-mutect	NCOA2,missense_variant,p.Arg1438Ser,ENST00000452400,NM_001321703.1,NM_001321707.1,NM_001321713.1,NM_006540.2;NCOA2,missense_variant,p.Arg564Ser,ENST00000518363,;NCOA2,intron_variant,,ENST00000518287,;	A	ENST00000452400	Transcript	missense_variant	4496/8447	4314/4395	1438/1464	R/S	agG/agT		1		-1	NCOA2	HGNC	HGNC:7669	protein_coding	YES	CCDS47872.1	ENSP00000399968	Q15596		UPI000012FE42	NM_001321703.1,NM_001321707.1,NM_001321713.1,NM_006540.2	deleterious_low_confidence(0.01)		22/23		hmmpanther:PTHR10684:SF2,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	70121371	70121371	C	A	1	0	0	0	0	1	0	0	0	10248	622	22	2		2	NCOA2	8	70121371	Missense_Mutation	SNP	C	C3N-01842_TP	9285164	70121371	75017265	182	28036											
RDH10	0	.	GRCh38	chr8	73319126	73319126	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttttcttcctacgatgctgGagattaatcatggtcatatt	9	17	7	8	1	3	1	2	0	1	1	4	3	4	1	1	2	2	1	1	2	3	7			C3N-01842_TP	C3N-01842_NB	G	G																c.556G>C	p.Glu186Gln	p.E186Q	ENST00000240285	3/6	209	195	14	174	174	0	strelka-varscan-mutect	RDH10,missense_variant,p.Glu186Gln,ENST00000240285,NM_172037.4;RDH10,missense_variant,p.Glu21Gln,ENST00000519380,;RDH10,missense_variant,p.Glu21Gln,ENST00000521928,;RDH10-AS1,intron_variant,,ENST00000514599,;RDH10-AS1,intron_variant,,ENST00000517475,;RDH10-AS1,upstream_gene_variant,,ENST00000520894,;RDH10,upstream_gene_variant,,ENST00000521013,;	C	ENST00000240285	Transcript	missense_variant	1234/3949	556/1026	186/341	E/Q	Gag/Cag	COSM3779350	1		1	RDH10	HGNC	HGNC:19975	protein_coding	YES	CCDS6213.1	ENSP00000240285	Q8IZV5	A0A024R7X6	UPI0000054C83	NM_172037.4	tolerated(0.13)		3/6		hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF466,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	84	73319126	73319126	G	C	1	0	0	0	0	1	0	0	0	13358	1175	41	4		4	RDH10	8	73319126	Missense_Mutation	SNP	G	C3N-01842_TP	3197755	73319126	71819510	183	28037											
ZFHX4	0	.	GRCh38	chr8	76854772	76854772	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgatcaccccggaacagctGgaaatactctatgaaaaata	17	7	7	10	2	2	1	1	1	1	0	2	4	2	3	2	2	3	1	2	2	7	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.7851G>T	p.=	p.L2617L	ENST00000521891	10/11	126	91	35	137	137	0	strelka-varscan-mutect	ZFHX4,synonymous_variant,p.=,ENST00000521891,NM_024721.4;ZFHX4,synonymous_variant,p.=,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	T	ENST00000521891	Transcript	synonymous_variant	8299/14019	7851/10851	2617/3616	L	ctG/ctT		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4			10/11		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00389,Superfamily_domains:SSF46689																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	84	76854772	76854772	G	T	1	0	0	0	0	0	0	0	1	18213	1335	47	2		2	ZFHX4	8	76854772	Silent	SNP	G	C3N-01842_TP	3535646	76854772	68283864	184	28038											
LRRC69	0	.	GRCh38	chr8	91124502	91124502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttgcagttgacaacaCtaaatctgggaaacaacctt	14	12	7	8	0	1	1	0	1	1	0	1	2	1	2	1	1	4	3	1	1	6	5	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.193C>A	p.Leu65Ile	p.L65I	ENST00000448384	2/8	203	143	60	181	180	1	strelka-varscan-mutect	LRRC69,missense_variant,p.Leu65Ile,ENST00000448384,NM_001129890.1;LRRC69,intron_variant,,ENST00000343709,;LRRC69,non_coding_transcript_exon_variant,,ENST00000522144,;LRRC69,intron_variant,,ENST00000520099,;	A	ENST00000448384	Transcript	missense_variant	193/1044	193/1044	65/347	L/I	Cta/Ata		1		1	LRRC69	HGNC	HGNC:34303	protein_coding	YES		ENSP00000400803	Q6ZNQ3		UPI00006C0DD3	NM_001129890.1	deleterious(0.01)		2/8		Low_complexity_(Seg):seg,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	84	91124502	91124502	C	A	1	0	0	0	0	1	0	0	0	8915	564	20	2		2	LRRC69	8	91124502	Missense_Mutation	SNP	C	C3N-01842_TP	14269730	91124502	54014134	185	28039											
POP1	0	.	GRCh38	chr8	98140869	98140869	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtccaaagctttgccCaatccagaaaaatgccaagg	17	6	8	10	0	0	2	0	0	0	2	2	2	2	2	4	1	3	1	4	1	7	1	rs369502410		C3N-01842_TP	C3N-01842_NB	C	C																c.1575C>T	p.=	p.P525P	ENST00000401707	11/16	462	360	102	426	426	0	strelka-varscan-mutect	POP1,synonymous_variant,p.=,ENST00000401707,NM_001145860.1,NM_001145861.1;POP1,synonymous_variant,p.=,ENST00000349693,NM_015029.2;	T	ENST00000401707	Transcript	synonymous_variant	1656/4719	1575/3075	525/1024	P	ccC/ccT	rs369502410	1		1	POP1	HGNC	HGNC:30129	protein_coding	YES	CCDS6277.1	ENSP00000385787	Q99575		UPI0000131F33	NM_001145860.1,NM_001145861.1			11/16		hmmpanther:PTHR22731:SF3,hmmpanther:PTHR22731																	LOW	1	SNV	2			1										PASS		rs369502410	.												T	2	4	84	98140869	98140869	C	T	1	0	0	0	0	0	0	0	1	12365	581	21	3		3	POP1	8	98140869	Silent	SNP	C	C3N-01842_TP	7016367	98140869	46997767	186	28040											
DPYS	0	.	GRCh38	chr8	104381199	104381199	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaccgatggcacacacttCaggggtgggcctgtttcctg	6	11	12	12	1	1	0	1	0	0	0	2	1	2	0	3	4	1	2	3	4	1	3			C3N-01842_TP	C3N-01842_NB	C	C																c.1559G>A	p.=	p.*520*	ENST00000351513	9/10	360	291	69	427	427	0	strelka-varscan-mutect	DPYS,stop_retained_variant,p.=,ENST00000351513,NM_001385.2;DPYS,intron_variant,,ENST00000533874,;DPYS,non_coding_transcript_exon_variant,,ENST00000521601,;DPYS,non_coding_transcript_exon_variant,,ENST00000521372,;DPYS,non_coding_transcript_exon_variant,,ENST00000520483,;DPYS,non_coding_transcript_exon_variant,,ENST00000520806,;	T	ENST00000351513	Transcript	stop_retained_variant	1692/2127	1559/1560	520/519	*	tGa/tAa	COSM374647	1		-1	DPYS	HGNC	HGNC:3013	protein_coding	YES	CCDS6302.1	ENSP00000276651	Q14117		UPI000012986F	NM_001385.2			9/10													1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	84	104381199	104381199	C	T	1	0	0	0	0	0	0	0	1	4561	837	29	3		3	DPYS	8	104381199	Silent	SNP	C	C3N-01842_TP	6240330	104381199	40757437	187	28041											
CSMD3	0	.	GRCh38	chr8	112682600	112682600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaccgccgtgcattgattGgtattccaggatcagggcat	10	10	11	10	2	1	1	1	1	0	0	2	2	2	2	3	3	2	3	3	3	2	4			C3N-01842_TP	C3N-01842_NB	G	G																c.2519C>A	p.Pro840Gln	p.P840Q	ENST00000297405	16/71	275	208	67	249	248	1	strelka-varscan-mutect	CSMD3,missense_variant,p.Pro840Gln,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Pro800Gln,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Pro736Gln,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Pro180Gln,ENST00000339701,;	T	ENST00000297405	Transcript	missense_variant	2764/13212	2519/11124	840/3707	P/Q	cCa/cAa	COSM4481534,COSM4481535	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)		16/71		PROSITE_profiles:PS50923,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	84	112682600	112682600	G	T	1	0	0	0	0	1	0	0	0	3747	1348	47	2		2	CSMD3	8	112682600	Missense_Mutation	SNP	G	C3N-01842_TP	8301401	112682600	32456036	188	28042											
ADCY8	0	.	GRCh38	chr8	130780500	130780500	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatgattcctgtgttgtTgttctcattgagtagctgct	5	19	10	7	0	1	3	1	3	1	0	3	3	2	3	1	0	2	6	1	0	1	7	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.3646A>C	p.Asn1216His	p.N1216H	ENST00000286355	18/18	222	159	63	403	403	0	strelka-varscan-mutect	ADCY8,missense_variant,p.Asn1216His,ENST00000286355,NM_001115.2;ADCY8,missense_variant,p.Asn1085His,ENST00000377928,;	G	ENST00000286355	Transcript	missense_variant	5739/5938	3646/3756	1216/1251	N/H	Aac/Cac		1		-1	ADCY8	HGNC	HGNC:239	protein_coding	YES	CCDS6363.1	ENSP00000286355	P40145	A0A0K0K1K3	UPI000012887C	NM_001115.2	deleterious(0.01)		18/18																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	130780500	130780500	T	G	1	0	0	0	0	1	0	0	0	344	1812	63	5		5	ADCY8	8	130780500	Missense_Mutation	SNP	T	C3N-01842_TP	18097900	130780500	14358136	189	28043											
OC90	0	.	GRCh38	chr8	132038794	132038794	+	Frame_Shift_Del	DEL	G	G	-																															ccctgggaggccttacctctGggcagaagtgttgtcaagtc																								novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1212delC	p.Arg405GlufsTer12	p.R405Efs*12	ENST00000262283	11/18	184	121	63	334	334	0	sindel-varindel-pindel	RP11-240B13.2,frameshift_variant,p.Arg405GlufsTer12,ENST00000262283,;OC90,frameshift_variant,p.Arg209GlufsTer12,ENST00000254627,NM_001080399.2;	-	ENST00000262283	Transcript	frameshift_variant	1312/2413	1212/2070	404/689	P/X	ccC/cc		1		-1	RP11-240B13.2	Clone_based_vega_gene		protein_coding	YES		ENSP00000262283		I6L893	UPI0000E5AF6B				11/18																			HIGH	1	deletion	1			1										PASS		.	.												-	7	5	84	132038794	132038794	G	-	1	0	1	0	1	0	0	0	0	10891	1362	47	0		0	OC90	8	132038794	Frame_Shift_Del	DEL	G	C3N-01842_TP	1258294	132038794	13099842	190	28044											
FAM135B	0	.	GRCh38	chr8	138148654	138148654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatccttcaatcttcagtTcttttttaaatttttctttg	9	22	3	7	0	5	0	2	0	3	0	6	1	6	0	1	0	0	1	1	0	4	9	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.3314A>G	p.Glu1105Gly	p.E1105G	ENST00000395297	14/20	140	100	40	132	132	0	strelka-varscan-mutect	FAM135B,missense_variant,p.Glu1105Gly,ENST00000395297,NM_015912.3;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,non_coding_transcript_exon_variant,,ENST00000395295,;FAM135B,intron_variant,,ENST00000276737,;FAM135B,intron_variant,,ENST00000467365,;	C	ENST00000395297	Transcript	missense_variant	3485/6962	3314/4221	1105/1406	E/G	gAa/gGa		1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	deleterious(0)		14/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	84	138148654	138148654	T	C	1	0	0	0	0	1	0	0	0	5299	1783	62	5		5	FAM135B	8	138148654	Missense_Mutation	SNP	T	C3N-01842_TP	6109860	138148654	6989982	191	28045											
GLI4	0	.	GRCh38	chr8	143276275	143276275	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactcgctgctcctgaagcAccagcgcatccacacgggcg	9	6	10	16	4	0	1	0	1	0	0	3	1	2	1	3	1	4	4	3	1	2	1	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.602A>T	p.His201Leu	p.H201L	ENST00000340042	4/4	239	182	57	300	300	0	strelka-varscan-mutect	GLI4,missense_variant,p.His201Leu,ENST00000340042,NM_138465.3;GLI4,missense_variant,p.His201Leu,ENST00000523522,;RP13-582O9.6,3_prime_UTR_variant,,ENST00000522452,;GLI4,3_prime_UTR_variant,,ENST00000517530,;GLI4,downstream_gene_variant,,ENST00000521682,;GLI4,downstream_gene_variant,,ENST00000344692,;GLI4,downstream_gene_variant,,ENST00000517468,;GLI4,downstream_gene_variant,,ENST00000520021,;MINCR,downstream_gene_variant,,ENST00000523031,;MINCR,downstream_gene_variant,,ENST00000517411,;MINCR,downstream_gene_variant,,ENST00000524335,;MINCR,downstream_gene_variant,,ENST00000521207,;MINCR,downstream_gene_variant,,ENST00000518073,;MINCR,downstream_gene_variant,,ENST00000519852,;GLI4,non_coding_transcript_exon_variant,,ENST00000523812,;GLI4,downstream_gene_variant,,ENST00000519876,;GLI4,downstream_gene_variant,,ENST00000522479,;GLI4,downstream_gene_variant,,ENST00000522033,;	T	ENST00000340042	Transcript	missense_variant	687/1341	602/1131	201/376	H/L	cAc/cTc		1		1	GLI4	HGNC	HGNC:4320	protein_coding	YES	CCDS6398.1	ENSP00000345024	P10075		UPI0000070432	NM_138465.3	deleterious(0)		4/4		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF122,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	143276275	143276275	A	T	1	0	0	0	0	1	0	0	0	6318	159	6	4		4	GLI4	8	143276275	Missense_Mutation	SNP	A	C3N-01842_TP	5127621	143276275	1862361	192	28046											
RPL8	0	.	GRCh38	chr8	144792092	144792092	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgcgcgcggaacacagacCcggcgcccttcctctgtcca	6	6	11	18	6	1	1	0	0	1	1	3	2	3	2	4	2	2	0	4	2	1	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.38G>T	p.Gly13Val	p.G13V	ENST00000262584	2/6	77	60	17	87	87	0	strelka-varscan-mutect	RPL8,missense_variant,p.Gly13Val,ENST00000262584,NM_000973.3;RPL8,missense_variant,p.Gly13Val,ENST00000528957,NM_001317782.1;RPL8,missense_variant,p.Gly13Val,ENST00000394920,NM_001317771.1,NM_033301.1;RPL8,missense_variant,p.Gly13Val,ENST00000532702,;RPL8,missense_variant,p.Gly13Val,ENST00000533397,;RPL8,missense_variant,p.Gly13Val,ENST00000527914,;ZNF34,upstream_gene_variant,,ENST00000429371,NM_001286769.1;ZNF34,upstream_gene_variant,,ENST00000343459,NM_030580.4;ZNF34,upstream_gene_variant,,ENST00000534445,NM_001286770.1;RPL8,upstream_gene_variant,,ENST00000612162,;RPL8,non_coding_transcript_exon_variant,,ENST00000528296,;RPL8,intron_variant,,ENST00000529163,;RPL8,missense_variant,p.Gly13Val,ENST00000529920,;RPL8,non_coding_transcript_exon_variant,,ENST00000525232,;RPL8,non_coding_transcript_exon_variant,,ENST00000531767,;ZNF34,upstream_gene_variant,,ENST00000527740,;RPL8,upstream_gene_variant,,ENST00000526668,;RPL8,upstream_gene_variant,,ENST00000534781,;RPL8,upstream_gene_variant,,ENST00000531975,;	A	ENST00000262584	Transcript	missense_variant	271/1041	38/774	13/257	G/V	gGg/gTg		1		-1	RPL8	HGNC	HGNC:10368	protein_coding	YES	CCDS6433.1	ENSP00000262584	P62917		UPI000000419E	NM_000973.3	deleterious(0)		2/6		Gene3D:2.40.50.140,HAMAP:MF_01320_A,Pfam_domain:PF00181,PIRSF_domain:PIRSF002158,hmmpanther:PTHR13691,hmmpanther:PTHR13691:SF16,SMART_domains:SM01383,Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	144792092	144792092	C	A	1	0	0	0	0	1	0	0	0	13855	623	22	2		2	RPL8	8	144792092	Missense_Mutation	SNP	C	C3N-01842_TP	1515817	144792092	346544	193	28047											
SPINK4	0	.	GRCh38	chr9	33246685	33246685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggtctgcggcactgatGggctcacatatacgaatgaa	11	9	11	10	2	2	2	1	2	1	0	2	3	2	2	1	3	2	2	1	3	4	2			C3N-01842_TP	C3N-01842_NB	G	G																c.172G>A	p.Gly58Arg	p.G58R	ENST00000379721	3/4	355	292	63	442	442	0	strelka-varscan-mutect	SPINK4,missense_variant,p.Gly81Arg,ENST00000379725,;SPINK4,missense_variant,p.Gly58Arg,ENST00000379721,NM_014471.1;BAG1,downstream_gene_variant,,ENST00000493917,;	A	ENST00000379721	Transcript	missense_variant	217/402	172/261	58/86	G/R	Ggg/Agg	COSM3926691,COSM3926692	1		1	SPINK4	HGNC	HGNC:16646	protein_coding	YES	CCDS6536.1	ENSP00000369045	O60575	V9HWG8	UPI000012D8F5	NM_014471.1	deleterious(0.01)		3/4		PROSITE_profiles:PS51465,hmmpanther:PTHR21179,PROSITE_patterns:PS00282,Gene3D:3.30.60.30,Pfam_domain:PF00050,SMART_domains:SM00280,Superfamily_domains:SSF100895											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	84	33246685	33246685	G	A	1	0	0	0	0	1	0	0	0	15414	1348	47	3		3	SPINK4	9	33246685	Missense_Mutation	SNP	G	C3N-01842_TP		33246685	105148032	194	28048											
OR13J1	0	.	GRCh38	chr9	35869721	35869721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctggcggccgagggcacCctcaggatggtggccaggat	7	5	16	13	2	1	0	1	0	0	0	1	3	1	2	4	7	0	1	4	7	0	0			C3N-01842_TP	C3N-01842_NB	C	C																c.681G>T	p.Arg227Ser	p.R227S	ENST00000377981	1/1	355	288	67	410	405	5	strelka-varscan-mutect	OR13J1,missense_variant,p.Arg227Ser,ENST00000377981,NM_001004487.1;LINC00950,downstream_gene_variant,,ENST00000629651,;	A	ENST00000377981	Transcript	missense_variant	881/1339	681/939	227/312	R/S	agG/agT	COSM455936	1		-1	OR13J1	HGNC	HGNC:15108	protein_coding	YES	CCDS35011.1	ENSP00000367219	Q8NGT2		UPI000003FF73	NM_001004487.1	deleterious(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF38,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		rs1442499587	.												A	3	1	84	35869721	35869721	C	A	1	0	0	0	0	1	0	0	0	11020	622	22	2		2	OR13J1	9	35869721	Missense_Mutation	SNP	C	C3N-01842_TP	2623036	35869721	102524996	195	28049											
AL135787.1	0	.	GRCh38	chr9	111592940	111592940	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aattacttggccacttgctgCcccatcattgtatcaccttc	8	14	5	14	0	2	0	2	0	0	0	3	0	2	0	4	1	3	2	4	1	3	6	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.195G>A	p.=	p.G65G	ENST00000407693	4/10	192	154	38	230	230	0	strelka-varscan-mutect	PTGR1,synonymous_variant,p.=,ENST00000407693,NM_001146108.1;PTGR1,synonymous_variant,p.=,ENST00000309195,NM_012212.3;AL135787.1,synonymous_variant,p.=,ENST00000538962,NM_001146109.1;PTGR1,intron_variant,,ENST00000422125,;PTGR1,synonymous_variant,p.=,ENST00000374324,;PTGR1,non_coding_transcript_exon_variant,,ENST00000374313,;PTGR1,non_coding_transcript_exon_variant,,ENST00000374308,;PTGR1,non_coding_transcript_exon_variant,,ENST00000485319,;	T	ENST00000407693	Transcript	synonymous_variant	458/1407	195/990	65/329	G	ggG/ggA		1		-1	PTGR1	HGNC	HGNC:18429	protein_coding	YES	CCDS6779.1	ENSP00000385763	Q14914		UPI000012E24A	NM_001146108.1			4/10		Gene3D:3.90.180.10,Pfam_domain:PF16884,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF528,SMART_domains:SM00829,Superfamily_domains:SSF50129,TIGRFAM_domain:TIGR02825																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	84	111592940	111592940	C	T	1	0	0	0	0	0	0	0	1	573	726	26	3		3	AL135787.1	9	111592940	Silent	SNP	C	C3N-01842_TP	75723219	111592940	26801777	196	28050											
TRIM32	0	.	GRCh38	chr9	116699529	116699529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgtggctgacagtagtcGcaaggaaattctccattttc	10	12	9	10	2	1	1	0	1	1	0	5	2	1	2	1	2	0	3	1	2	3	4	rs750300057		C3N-01842_TP	C3N-01842_NB	G	G																c.1787G>A	p.Arg596His	p.R596H	ENST00000450136	2/2	391	182	209	405	405	0	strelka-varscan-mutect	TRIM32,missense_variant,p.Arg596His,ENST00000450136,NM_001099679.1,NM_012210.3;TRIM32,missense_variant,p.Arg596His,ENST00000373983,;ASTN2,intron_variant,,ENST00000313400,;ASTN2,intron_variant,,ENST00000361209,NM_014010.4;ASTN2,intron_variant,,ENST00000361477,NM_198187.3;ASTN2,intron_variant,,ENST00000373986,;TRIM32,downstream_gene_variant,,ENST00000411410,;	A	ENST00000450136	Transcript	missense_variant	1948/3717	1787/1962	596/653	R/H	cGc/cAc	rs750300057,COSM1230316	1		1	TRIM32	HGNC	HGNC:16380	protein_coding	YES	CCDS6817.1	ENSP00000408292	Q13049	A0A024R843	UPI000012CDB9	NM_001099679.1,NM_012210.3	deleterious(0.04)		2/2		Gene3D:2.120.10.30,PROSITE_profiles:PS51125,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF363,Superfamily_domains:SSF101898											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs750300057	.												A	3	1	84	116699529	116699529	G	A	1	0	0	0	0	1	0	0	0	16995	1087	38	1		1	TRIM32	9	116699529	Missense_Mutation	SNP	G	C3N-01842_TP	5106589	116699529	21695188	197	28051											
SH2D3C	0	.	GRCh38	chr9	127747154	127747154	+	Frame_Shift_Del	DEL	G	G	-																															ctgctggccataccagtgctGtaggcaggggagctagggct																								novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1257delC	p.Tyr419Ter	p.Y419*	ENST00000314830	6/12	130	102	28	203	203	0	sindel-varindel-pindel	SH2D3C,frameshift_variant,p.Tyr419Ter,ENST00000314830,NM_170600.2;SH2D3C,frameshift_variant,p.Tyr351Ter,ENST00000373276,NM_001252334.1;SH2D3C,frameshift_variant,p.Tyr65Ter,ENST00000429553,NM_001142531.1,NM_001142532.1;SH2D3C,frameshift_variant,p.Tyr262Ter,ENST00000373277,NM_005489.3;SH2D3C,frameshift_variant,p.Tyr261Ter,ENST00000420366,NM_001142533.1;SH2D3C,frameshift_variant,p.Tyr259Ter,ENST00000629203,NM_001142534.1;SH2D3C,frameshift_variant,p.Tyr65Ter,ENST00000440630,;SH2D3C,downstream_gene_variant,,ENST00000414380,;AL162426.1,downstream_gene_variant,,ENST00000625046,;SH2D3C,non_coding_transcript_exon_variant,,ENST00000488685,;SH2D3C,non_coding_transcript_exon_variant,,ENST00000464239,;SH2D3C,intron_variant,,ENST00000471939,;SH2D3C,intron_variant,,ENST00000468969,;SH2D3C,upstream_gene_variant,,ENST00000484160,;	-	ENST00000314830	Transcript	frameshift_variant	1371/3124	1257/2583	419/860	Y/X	taC/ta		1		-1	SH2D3C	HGNC	HGNC:16884	protein_coding	YES	CCDS6877.1	ENSP00000317817	Q8N5H7		UPI000006EC87	NM_170600.2			6/12		hmmpanther:PTHR14247,Low_complexity_(Seg):seg																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	84	127747154	127747154	G	-	1	0	1	0	1	0	0	0	0	14492	1372	48	0		0	SH2D3C	9	127747154	Frame_Shift_Del	DEL	G	C3N-01842_TP	11047625	127747154	10647563	198	28052											
HMCN2	0	.	GRCh38	chr9	130430556	130430556	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctgagcagtgtgggcCgggcctggtgccctcctggt	2	9	17	13	1	0	1	0	1	0	0	1	1	1	1	5	5	2	1	5	5	0	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.14539C>A	p.=	p.R4847R	ENST00000624552	95/98	247	193	54	245	244	1	strelka-varscan-mutect	HMCN2,synonymous_variant,p.=,ENST00000624552,NM_001291815.1;HMCN2,synonymous_variant,p.=,ENST00000428715,;HMCN2,non_coding_transcript_exon_variant,,ENST00000623487,;	A	ENST00000624552	Transcript	synonymous_variant	14539/15610	14539/15180	4847/5059	R	Cgg/Agg		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1			95/98		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25																	LOW	1	SNV	5			1										PASS		rs1198681204	.												A	2	1	84	130430556	130430556	C	A	1	0	0	0	0	0	0	0	1	7112	643	23	1		1	HMCN2	9	130430556	Silent	SNP	C	C3N-01842_TP	2683402	130430556	7964161	199	28053											
AIF1L	0	.	GRCh38	chr9	131117838	131117838	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagatgatctcagaggtGacaggaggggtcagtgacac	14	6	15	6	0	2	6	2	3	1	3	3	7	2	7	0	4	0	0	0	4	2	0	rs750325550		C3N-01842_TP	C3N-01842_NB	G	G																c.363G>T	p.=	p.V121V	ENST00000372309	6/7	190	145	45	209	208	1	strelka-varscan-mutect	AIF1L,splice_region_variant,,ENST00000372298,;AIF1L,synonymous_variant,p.=,ENST00000372309,NM_001185095.1;AIF1L,synonymous_variant,p.=,ENST00000247291,NM_031426.3;AIF1L,synonymous_variant,p.=,ENST00000372302,;AIF1L,synonymous_variant,p.=,ENST00000372300,NM_001185096.1;AIF1L,synonymous_variant,p.=,ENST00000372301,;AIF1L,synonymous_variant,p.=,ENST00000372297,;AIF1L,downstream_gene_variant,,ENST00000472942,;AIF1L,3_prime_UTR_variant,,ENST00000372314,;	T	ENST00000372309	Transcript	synonymous_variant	517/3515	363/531	121/176	V	gtG/gtT	rs750325550	1		1	AIF1L	HGNC	HGNC:28904	protein_coding	YES	CCDS55348.1	ENSP00000361383	Q9BQI0		UPI00001C1012	NM_001185095.1			6/7		Gene3D:1.10.238.10,hmmpanther:PTHR10356,hmmpanther:PTHR10356:SF5,Superfamily_domains:SSF47473																	LOW	1	SNV	2			1										PASS		rs750325550	.												T	2	4	84	131117838	131117838	G	T	1	0	0	0	0	0	0	0	1	502	1304	45	2		2	AIF1L	9	131117838	Silent	SNP	G	C3N-01842_TP	687282	131117838	7276879	200	28054											
CACNA1B	0	.	GRCh38	chr9	138121523	138121523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caacatctggtgctagcaccCccggccgcggtgggcggagg	6	5	16	14	4	1	0	0	0	1	0	1	1	1	1	3	6	3	2	3	6	2	1	rs200435656		C3N-01842_TP	C3N-01842_NB	C	C																c.6544C>T	p.Pro2182Ser	p.P2182S	ENST00000371372	47/47	52	36	16	56	56	0	strelka-varscan-mutect	CACNA1B,missense_variant,p.Pro2182Ser,ENST00000371372,NM_000718.3;CACNA1B,missense_variant,p.Pro2180Ser,ENST00000371363,;CACNA1B,missense_variant,p.Pro2183Ser,ENST00000371355,;CACNA1B,missense_variant,p.Pro2181Ser,ENST00000371357,;CACNA1B,intron_variant,,ENST00000277549,;CACNA1B,intron_variant,,ENST00000277551,NM_001243812.1;	T	ENST00000371372	Transcript	missense_variant	6689/9790	6544/7020	2182/2339	P/S	Ccc/Tcc	rs200435656	1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3	deleterious(0.01)		47/47																			MODERATE	1	SNV	5			1										PASS		rs200435656	.												T	3	4	84	138121523	138121523	C	T	1	0	0	0	0	1	0	0	0	2227	623	22	3		3	CACNA1B	9	138121523	Missense_Mutation	SNP	C	C3N-01842_TP	7003685	138121523	273194	201	28055											
PFKP	0	.	GRCh38	chr10	3105438	3105438	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcggtgcggactgggtGttccttccagaatctccacc	5	10	12	14	2	1	1	0	0	1	1	4	2	3	2	5	3	2	1	5	3	1	2	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.711G>T	p.=	p.V237V	ENST00000381125	7/22	307	247	60	351	351	0	strelka-varscan-mutect	PFKP,synonymous_variant,p.=,ENST00000381075,NM_001242339.1;PFKP,synonymous_variant,p.=,ENST00000381125,NM_001323069.1,NM_001323067.1,NM_002627.4;PFKP,synonymous_variant,p.=,ENST00000415005,;PFKP,synonymous_variant,p.=,ENST00000407806,;PFKP,synonymous_variant,p.=,ENST00000468050,;PFKP,downstream_gene_variant,,ENST00000607886,;PFKP,non_coding_transcript_exon_variant,,ENST00000460445,;PFKP,downstream_gene_variant,,ENST00000421751,;	T	ENST00000381125	Transcript	synonymous_variant	787/2654	711/2355	237/784	V	gtG/gtT		1		1	PFKP	HGNC	HGNC:8878	protein_coding	YES	CCDS7059.1	ENSP00000370517	Q01813		UPI00000012D2	NM_001323069.1,NM_001323067.1,NM_002627.4			7/22		Gene3D:3.40.50.450,HAMAP:MF_03184,Pfam_domain:PF00365,PIRSF_domain:PIRSF000533,Prints_domain:PR00476,hmmpanther:PTHR13697,hmmpanther:PTHR13697:SF5,Superfamily_domains:SSF53784,TIGRFAM_domain:TIGR02478																	LOW	1	SNV	1			1										PASS		rs971417114	.												T	2	4	84	3105438	3105438	G	T	1	0	0	0	0	0	0	0	1	11856	1364	48	2		2	PFKP	10	3105438	Silent	SNP	G	C3N-01842_TP		3105438	130691984	202	28056											
GATA3	0	.	GRCh38	chr10	8069534	8069534	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccaccacaaccacactctGgaggaggaatgccaatgggg	13	4	12	12	0	1	0	0	0	1	0	1	4	1	3	4	5	2	0	4	5	3	0	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.986G>C	p.Trp329Ser	p.W329S	ENST00000379328	5/6	566	463	103	669	669	0	strelka-varscan-mutect	GATA3,missense_variant,p.Trp329Ser,ENST00000379328,NM_001002295.1;GATA3,missense_variant,p.Trp328Ser,ENST00000346208,NM_002051.2;GATA3,non_coding_transcript_exon_variant,,ENST00000461472,;	C	ENST00000379328	Transcript	missense_variant	1554/3078	986/1335	329/444	W/S	tGg/tCg		1		1	GATA3	HGNC	HGNC:4172	protein_coding	YES	CCDS31143.1	ENSP00000368632	P23771		UPI000002AA34	NM_001002295.1	deleterious(0.03)		5/6		PROSITE_profiles:PS50114,hmmpanther:PTHR10071:SF106,hmmpanther:PTHR10071,PROSITE_patterns:PS00344,Gene3D:3.30.50.10,Pfam_domain:PF00320,PIRSF_domain:PIRSF003027,SMART_domains:SM00401,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	84	8069534	8069534	G	C	1	0	0	0	0	1	0	0	0	6125	1357	47	4		4	GATA3	10	8069534	Missense_Mutation	SNP	G	C3N-01842_TP	4964096	8069534	125727888	203	28057											
MPP7	0	.	GRCh38	chr10	28120313	28120313	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagaatatctccctttttGaaagaaagcccagcttcctt	12	13	6	10	0	1	4	0	2	1	2	3	4	2	4	3	0	2	1	3	0	5	5	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.768C>G	p.Phe256Leu	p.F256L	ENST00000337532	11/18	262	229	33	309	308	1	strelka-varscan-mutect	MPP7,missense_variant,p.Phe256Leu,ENST00000337532,NM_001318170.1,NM_173496.3;MPP7,missense_variant,p.Phe256Leu,ENST00000375732,;MPP7,missense_variant,p.Phe256Leu,ENST00000375719,;MPP7,intron_variant,,ENST00000441595,;MPP7,downstream_gene_variant,,ENST00000481244,;MPP7,downstream_gene_variant,,ENST00000474731,;MPP7,missense_variant,p.Phe256Leu,ENST00000496637,;	C	ENST00000337532	Transcript	missense_variant	1045/5080	768/1731	256/576	F/L	ttC/ttG		1		-1	MPP7	HGNC	HGNC:26542	protein_coding	YES	CCDS7158.1	ENSP00000337907	Q5T2T1		UPI00000558E1	NM_001318170.1,NM_173496.3	deleterious(0.03)		11/18		PROSITE_profiles:PS50002,hmmpanther:PTHR23122:SF39,hmmpanther:PTHR23122,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	84	28120313	28120313	G	C	1	0	0	0	0	1	0	0	0	9705	1281	45	4		4	MPP7	10	28120313	Missense_Mutation	SNP	G	C3N-01842_TP	20050779	28120313	105677109	204	28058											
EPC1	0	.	GRCh38	chr10	32287117	32287117	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggagagaggttcttcgTctgagctgggaaagtcatac	9	10	14	8	1	3	2	1	1	2	1	4	5	3	4	1	3	2	2	1	3	2	3	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.1133A>T	p.Asp378Val	p.D378V	ENST00000263062	7/15	186	148	38	255	253	2	strelka-varscan-mutect	EPC1,missense_variant,p.Asp378Val,ENST00000319778,NM_001272019.2,NM_001272004.1;EPC1,missense_variant,p.Asp328Val,ENST00000375110,NM_001282391.1;EPC1,missense_variant,p.Asp378Val,ENST00000263062,NM_025209.3;RP11-166N17.3,downstream_gene_variant,,ENST00000419441,;EPC1,upstream_gene_variant,,ENST00000479380,;EPC1,non_coding_transcript_exon_variant,,ENST00000495790,;	A	ENST00000263062	Transcript	missense_variant	1403/2913	1133/2511	378/836	D/V	gAc/gTc		1		-1	EPC1	HGNC	HGNC:19876	protein_coding	YES	CCDS7172.1	ENSP00000263062	Q9H2F5		UPI000006F77F	NM_025209.3	deleterious(0)		7/15		hmmpanther:PTHR14898,hmmpanther:PTHR14898:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	32287117	32287117	T	A	1	0	0	0	0	1	0	0	0	5006	1667	58	4		4	EPC1	10	32287117	Missense_Mutation	SNP	T	C3N-01842_TP	4166804	32287117	101510305	205	28059											
ANKRD30A	0	.	GRCh38	chr10	37197413	37197413	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaccccatttagcctgcCattgaaatgcaaaagtctgt	12	11	6	12	0	1	1	0	1	1	0	2	1	2	1	5	0	4	1	5	0	5	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.2481C>A	p.=	p.A827A	ENST00000361713	29/36	321	226	95	252	252	0	strelka-varscan-mutect	ANKRD30A,synonymous_variant,p.=,ENST00000374660,;ANKRD30A,synonymous_variant,p.=,ENST00000611781,;ANKRD30A,synonymous_variant,p.=,ENST00000602533,;ANKRD30A,synonymous_variant,p.=,ENST00000361713,NM_052997.2;ANKRD30A,downstream_gene_variant,,ENST00000475522,;	A	ENST00000361713	Transcript	synonymous_variant	2580/4405	2481/4026	827/1341	A	gcC/gcA		1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2			29/36		hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	84	37197413	37197413	C	A	1	0	0	0	0	0	0	0	1	761	608	21	2		2	ANKRD30A	10	37197413	Silent	SNP	C	C3N-01842_TP	4910296	37197413	96600009	206	28060											
ZNF33A	0	.	GRCh38	chr10	38055627	38055627	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcttatgaatgtaatgcAtgtgggaaaactttctacca	15	13	7	6	0	2	1	0	1	2	0	2	2	2	2	1	1	3	2	1	1	7	4	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.1557A>G	p.=	p.A519A	ENST00000307441	6/6	342	305	37	315	315	0	strelka-varscan-mutect	ZNF33A,synonymous_variant,p.=,ENST00000307441,NM_001324175.1,NM_001324177.1,NM_001324178.1,NM_001278173.1;ZNF33A,synonymous_variant,p.=,ENST00000374618,NM_001324175.1,NM_001324177.1,NM_001324176.1,NM_001278176.1,NM_001278179.1,NM_001278178.1,NM_001278171.1,NM_001278174.1,NM_001278175.1;ZNF33A,synonymous_variant,p.=,ENST00000458705,NM_006974.2;ZNF33A,synonymous_variant,p.=,ENST00000432900,NM_001278177.1,NM_006954.1;ZNF33A,synonymous_variant,p.=,ENST00000628825,NM_001278170.1;ZNF33A,intron_variant,,ENST00000469037,;ZNF33A,downstream_gene_variant,,ENST00000478556,;	G	ENST00000307441	Transcript	synonymous_variant	1760/6196	1557/2490	519/829	A	gcA/gcG		1		1	ZNF33A	HGNC	HGNC:13096	protein_coding	YES	CCDS73088.1	ENSP00000304268		A0A0A0MR11	UPI00032969BB	NM_001324175.1,NM_001324177.1,NM_001324178.1,NM_001278173.1			6/6		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF204,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	4			1										PASS		.	.												G	2	3	84	38055627	38055627	A	G	1	0	0	0	0	0	0	0	1	18426	204	8	5		5	ZNF33A	10	38055627	Silent	SNP	A	C3N-01842_TP	858214	38055627	95741795	207	28061											
ZNF239	0	.	GRCh38	chr10	43557280	43557280	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgaagcccttcccacacTtgtcacacttataaggcttc	9	12	7	13	0	1	1	1	1	0	0	3	1	2	1	2	2	1	1	2	2	3	5	rs149602031		C3N-01842_TP	C3N-01842_NB	T	T																c.800A>T	p.Lys267Met	p.K267M	ENST00000306006	2/2	330	242	88	438	438	0	strelka-varscan-mutect	ZNF239,missense_variant,p.Lys267Met,ENST00000306006,NM_005674.2;ZNF239,missense_variant,p.Lys267Met,ENST00000374446,NM_001324351.1,NM_001324352.1,NM_001324349.1,NM_001099282.1;ZNF239,missense_variant,p.Lys267Met,ENST00000426961,NM_001099284.1;ZNF239,missense_variant,p.Lys267Met,ENST00000535642,NM_001099283.1;ZNF239,downstream_gene_variant,,ENST00000491188,;	A	ENST00000306006	Transcript	missense_variant	1453/2389	800/1377	267/458	K/M	aAg/aTg	rs149602031	1		-1	ZNF239	HGNC	HGNC:13031	protein_coding	YES	CCDS41502.1	ENSP00000307774	Q16600		UPI000006DD0E	NM_005674.2	deleterious(0)		2/2		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF114,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs149602031	.												A	3	1	84	43557280	43557280	T	A	1	0	0	0	0	1	0	0	0	18367	1609	56	4		4	ZNF239	10	43557280	Missense_Mutation	SNP	T	C3N-01842_TP	5501653	43557280	90240142	208	28062											
GDF10	0	.	GRCh38	chr10	47312733	47312733	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttcctggatgagaatCggaatgtggttctgaaggtg	8	13	13	7	1	2	2	0	2	2	1	5	5	4	4	2	4	0	1	2	4	3	2	rs150075852		C3N-01842_TP	C3N-01842_NB	C	C																c.1378C>A	p.=	p.R460R	ENST00000580279	3/3	90	81	9	131	131	0	strelka-varscan-mutect	GDF10,synonymous_variant,p.=,ENST00000580279,NM_004962.3;	A	ENST00000580279	Transcript	synonymous_variant	1644/2458	1378/1437	460/478	R	Cgg/Agg	rs150075852	1		1	GDF10	HGNC	HGNC:4215	protein_coding	YES	CCDS73117.1	ENSP00000464145	P55107		UPI0000126A13	NM_004962.3			3/3		Gene3D:2.10.90.10,Pfam_domain:PF00019,PIRSF_domain:PIRSF037403,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF145,SMART_domains:SM00204,Superfamily_domains:SSF57501																	LOW	1	SNV	1			1										PASS		rs150075852	.												A	2	1	84	47312733	47312733	C	A	1	0	0	0	0	0	0	0	1	6184	875	31	1		1	GDF10	10	47312733	Silent	SNP	C	C3N-01842_TP	3755453	47312733	86484689	209	28063											
OGDHL	0	.	GRCh38	chr10	49756943	49756943	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgaagaagctgtcccAggactaggcagggcagaaac	12	6	12	11	0	0	3	0	1	0	2	2	4	2	4	2	3	2	3	2	3	4	2	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.208T>A	p.Trp70Arg	p.W70R	ENST00000374103	3/23	70	49	21	98	98	0	strelka-varscan-mutect	OGDHL,missense_variant,p.Trp70Arg,ENST00000374103,NM_018245.2;OGDHL,intron_variant,,ENST00000419399,NM_001143996.1;OGDHL,intron_variant,,ENST00000432695,NM_001143997.1;OGDHL,non_coding_transcript_exon_variant,,ENST00000471460,;	T	ENST00000374103	Transcript	missense_variant	294/3704	208/3033	70/1010	W/R	Tgg/Agg		1		-1	OGDHL	HGNC	HGNC:25590	protein_coding	YES	CCDS7234.1	ENSP00000363216	Q9ULD0		UPI000013D6A4	NM_018245.2	deleterious(0)		3/23		Pfam_domain:PF16078,PIRSF_domain:PIRSF000157,hmmpanther:PTHR23152,hmmpanther:PTHR23152:SF5,TIGRFAM_domain:TIGR00239																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	49756943	49756943	A	T	1	0	0	0	0	1	0	0	0	10914	202	7	4		4	OGDHL	10	49756943	Missense_Mutation	SNP	A	C3N-01842_TP	2444210	49756943	84040479	210	28064											
PCDH15	0	.	GRCh38	chr10	54153099	54153099	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attggttctaatataaattaCcttcgctctgcaggaggagc	11	13	9	8	1	2	0	0	0	2	0	3	2	2	2	1	3	3	3	1	3	5	7	rs761865629		C3N-01842_TP	C3N-01842_NB	C	C																c.1799+1G>C		p.X600_splice	ENST00000373957		425	347	78	567	567	0	strelka-varscan-mutect	PCDH15,splice_donor_variant,,ENST00000614895,;PCDH15,splice_donor_variant,,ENST00000373965,NM_001142772.1;PCDH15,splice_donor_variant,,ENST00000414778,;PCDH15,splice_donor_variant,,ENST00000617051,;PCDH15,splice_donor_variant,,ENST00000373957,NM_001142763.1;PCDH15,splice_donor_variant,,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,splice_donor_variant,,ENST00000395430,NM_001142766.1;PCDH15,splice_donor_variant,,ENST00000395433,NM_001142773.1;PCDH15,splice_donor_variant,,ENST00000395432,NM_001142767.1;PCDH15,splice_donor_variant,,ENST00000320301,NM_033056.3;PCDH15,splice_donor_variant,,ENST00000622048,;PCDH15,splice_donor_variant,,ENST00000437009,NM_001142765.1;PCDH15,splice_donor_variant,,ENST00000617271,NM_001142770.1;PCDH15,splice_donor_variant,,ENST00000613657,NM_001142769.1;PCDH15,splice_donor_variant,,ENST00000395445,;PCDH15,splice_donor_variant,,ENST00000616114,;PCDH15,splice_donor_variant,,ENST00000395438,;PCDH15,splice_donor_variant,,ENST00000612394,;PCDH15,splice_donor_variant,,ENST00000621708,NM_001142771.1;PCDH15,splice_donor_variant,,ENST00000409834,;PCDH15,splice_donor_variant,,ENST00000373955,;PCDH15,splice_donor_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,splice_donor_variant,,ENST00000448885,;PCDH15,splice_donor_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	G	ENST00000373957	Transcript	splice_donor_variant	-/7032	1799/5889	600/1962			rs761865629	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1				15/34																		HIGH	1	SNV	5			1										PASS		rs761865629	.												G	5	3	84	54153099	54153099	C	G	1	0	0	0	0	0	0	1	0	11598	521	18	4		4	PCDH15	10	54153099	Splice_Site	SNP	C	C3N-01842_TP	4396156	54153099	79644323	211	28065											
CHST3	0	.	GRCh38	chr10	72005941	72005941	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttggtttttgtggtgatAgtttttgtcttcatcgaaaa	7	21	9	4	1	3	1	1	1	2	0	4	2	3	1	0	2	0	2	0	2	3	8	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.99A>T	p.=	p.I33I	ENST00000373115	2/3	563	434	129	739	739	0	strelka-varscan-mutect	CHST3,synonymous_variant,p.=,ENST00000373115,NM_004273.4;	T	ENST00000373115	Transcript	synonymous_variant	536/6970	99/1440	33/479	I	atA/atT		1		1	CHST3	HGNC	HGNC:1971	protein_coding	YES	CCDS7312.1	ENSP00000362207	Q7LGC8		UPI000013CB04	NM_004273.4			2/3		PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF38,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs915527340	.												T	2	4	84	72005941	72005941	A	T	1	0	0	0	0	0	0	0	1	3165	410	15	4		4	CHST3	10	72005941	Silent	SNP	A	C3N-01842_TP	17852842	72005941	61791481	212	28066											
ASCC1	0	.	GRCh38	chr10	72204482	72204482	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttctggaacccacagtcgTttgatgtgttcaagtgaatg	9	14	10	8	1	3	2	1	2	2	0	4	3	3	3	1	1	1	2	1	1	3	3	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.236A>G	p.Asn79Ser	p.N79S	ENST00000342444	4/13	238	214	24	271	271	0	strelka-varscan-mutect	ASCC1,missense_variant,p.Asn79Ser,ENST00000342444,NM_001198799.2;ASCC1,missense_variant,p.Asn79Ser,ENST00000394915,;ASCC1,intron_variant,,ENST00000394919,NM_001198798.2;ASCC1,intron_variant,,ENST00000317168,NM_001198800.2;ASCC1,intron_variant,,ENST00000486689,;ASCC1,intron_variant,,ENST00000317126,;ASCC1,intron_variant,,ENST00000524829,;ASCC1,intron_variant,,ENST00000527593,;ASCC1,intron_variant,,ENST00000530461,;ASCC1,intron_variant,,ENST00000526751,;ASCC1,intron_variant,,ENST00000531048,;ASCC1,intron_variant,,ENST00000492502,;ASCC1,missense_variant,p.Asn9Ser,ENST00000461369,;ASCC1,intron_variant,,ENST00000532011,;	C	ENST00000342444	Transcript	missense_variant	338/2270	236/1203	79/400	N/S	aAc/aGc		1		-1	ASCC1	HGNC	HGNC:24268	protein_coding	YES	CCDS55713.1	ENSP00000339404	Q8N9N2		UPI000006F7E9	NM_001198799.2	tolerated_low_confidence(0.15)		4/13		PIRSF_domain:PIRSF027019																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	84	72204482	72204482	T	C	1	0	0	0	0	1	0	0	0	1173	1725	60	5		5	ASCC1	10	72204482	Missense_Mutation	SNP	T	C3N-01842_TP	198541	72204482	61592940	213	28067											
RRP12	0	.	GRCh38	chr10	97366767	97366767	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctttgccctgggcgggctCctcctcctcctcctcctctt	1	13	7	20	1	1	0	0	0	1	0	7	0	7	0	8	2	1	1	8	2	0	2	rs771066500		C3N-01842_TP	C3N-01842_NB	C	C																c.3190G>T	p.Glu1064Ter	p.E1064*	ENST00000536831	28/35	79	67	12	128	128	0	strelka-varscan-mutect	RRP12,stop_gained,p.Glu1064Ter,ENST00000536831,;RRP12,stop_gained,p.Glu1064Ter,ENST00000370992,NM_015179.3;RRP12,stop_gained,p.Glu1003Ter,ENST00000414986,NM_001145114.1;RRP12,stop_gained,p.Glu964Ter,ENST00000315563,NM_001284337.1;RRP12,upstream_gene_variant,,ENST00000487612,;RRP12,non_coding_transcript_exon_variant,,ENST00000479481,;RRP12,non_coding_transcript_exon_variant,,ENST00000491313,;RRP12,upstream_gene_variant,,ENST00000465394,;	A	ENST00000536831	Transcript	stop_gained	3379/4476	3190/3894	1064/1297	E/*	Gag/Tag	rs771066500	1		-1	RRP12	HGNC	HGNC:29100	protein_coding	YES	CCDS7457.1	ENSP00000446184	Q5JTH9		UPI000013E51C				28/35		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21576,hmmpanther:PTHR21576:SF2																	HIGH	1	SNV	5			1										PASS		rs771066500	.												A	4	1	84	97366767	97366767	C	A	1	0	0	0	0	0	1	0	0	13941	864	30	2		2	RRP12	10	97366767	Nonsense_Mutation	SNP	C	C3N-01842_TP	25162285	97366767	36430655	214	28068											
DNMBP	0	.	GRCh38	chr10	99930364	99930364	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtagccatttgcctcccCgtatccaccagctttcgagg	7	11	9	14	2	0	1	0	1	0	0	3	2	2	1	6	1	3	3	6	1	2	4	rs115073424		C3N-01842_TP	C3N-01842_NB	C	C																c.400G>C	p.Gly134Arg	p.G134R	ENST00000636706	1/14	208	184	24	234	234	0	strelka-varscan-mutect	DNMBP,missense_variant,p.Gly134Arg,ENST00000636706,NM_001318326.1;DNMBP,intron_variant,,ENST00000324109,NM_015221.2;DNMBP-AS1,intron_variant,,ENST00000434409,;DNMBP-AS1,downstream_gene_variant,,ENST00000427093,;	G	ENST00000636706	Transcript	missense_variant	633/5437	400/3630	134/1209	G/R	Ggg/Cgg	rs115073424	1		-1	DNMBP	HGNC	HGNC:30373	protein_coding			ENSP00000489875			UPI0005D010EE	NM_001318326.1	deleterious_low_confidence(0)		1/14																			MODERATE		SNV				1										PASS		rs115073424	.												G	3	3	84	99930364	99930364	C	G	1	0	0	0	0	1	0	0	0	4487	652	23	4		4	DNMBP	10	99930364	Missense_Mutation	SNP	C	C3N-01842_TP	2563597	99930364	33867058	215	28069											
KAZALD1	0	.	GRCh38	chr10	101062778	101062778	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggccagaagagtgcgcCgcgccgcggggctgcctggc	4	4	18	15	6	0	2	0	0	0	2	0	2	0	2	5	4	3	1	5	4	1	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.186C>T	p.=	p.A62A	ENST00000370200	2/5	139	103	36	164	162	2	strelka-varscan-mutect	KAZALD1,synonymous_variant,p.=,ENST00000370200,NM_030929.4;RP11-108L7.15,upstream_gene_variant,,ENST00000609242,;KAZALD1,intron_variant,,ENST00000477979,;KAZALD1,intron_variant,,ENST00000470106,;KAZALD1,upstream_gene_variant,,ENST00000465807,;KAZALD1,upstream_gene_variant,,ENST00000477267,;KAZALD1,upstream_gene_variant,,ENST00000608812,;	T	ENST00000370200	Transcript	synonymous_variant	512/1913	186/915	62/304	A	gcC/gcT		1		1	KAZALD1	HGNC	HGNC:25460	protein_coding	YES	CCDS7509.1	ENSP00000359219	Q96I82		UPI000004283E	NM_030929.4			2/5		Pfam_domain:PF00219,PIRSF_domain:PIRSF018239,PROSITE_profiles:PS51323,hmmpanther:PTHR14186,hmmpanther:PTHR14186:SF21,Superfamily_domains:SSF57184																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	84	101062778	101062778	C	T	1	0	0	0	0	0	0	0	1	7906	639	23	1		1	KAZALD1	10	101062778	Silent	SNP	C	C3N-01842_TP	1132414	101062778	32734644	216	28070											
ACSL5	0	.	GRCh38	chr10	112413208	112413208	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggagccagagttggattCttccaaggggatattcggtt	8	13	14	6	1	1	1	0	0	1	1	3	4	2	4	2	5	1	2	2	5	2	6	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1152C>T	p.=	p.F384F	ENST00000356116	12/21	268	200	68	362	362	0	strelka-varscan-mutect	ACSL5,synonymous_variant,p.=,ENST00000393081,NM_203380.1;ACSL5,synonymous_variant,p.=,ENST00000354273,;ACSL5,synonymous_variant,p.=,ENST00000356116,NM_016234.3;ACSL5,synonymous_variant,p.=,ENST00000354655,NM_203379.1;ACSL5,synonymous_variant,p.=,ENST00000433418,;RP11-324O2.3,intron_variant,,ENST00000424422,;RP11-324O2.3,intron_variant,,ENST00000631085,;RP11-324O2.3,upstream_gene_variant,,ENST00000449782,;RP11-324O2.3,upstream_gene_variant,,ENST00000598447,;RP11-324O2.3,upstream_gene_variant,,ENST00000627339,;RP11-324O2.3,upstream_gene_variant,,ENST00000594870,;ACSL5,non_coding_transcript_exon_variant,,ENST00000495539,;ACSL5,non_coding_transcript_exon_variant,,ENST00000467340,;ACSL5,downstream_gene_variant,,ENST00000479936,;	T	ENST00000356116	Transcript	synonymous_variant	1264/3353	1152/2220	384/739	F	ttC/ttT		1		1	ACSL5	HGNC	HGNC:16526	protein_coding	YES	CCDS7572.1	ENSP00000348429	Q9ULC5		UPI000003ED0C	NM_016234.3			12/21		hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF204,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	84	112413208	112413208	C	T	1	0	0	0	0	0	0	0	1	222	912	32	3		3	ACSL5	10	112413208	Silent	SNP	C	C3N-01842_TP	11350430	112413208	21384214	217	28071											
PRDX3	0	.	GRCh38	chr10	119173809	119173809	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcgacaacttcacagttCacgtcgtgaaattcgttagc	11	11	8	11	4	2	1	2	1	0	0	4	2	2	1	0	0	3	2	0	0	3	4			C3N-01842_TP	C3N-01842_NB	C	C																c.375G>T	p.=	p.V125V	ENST00000298510	4/7	188	167	21	196	196	0	strelka-varscan-mutect	PRDX3,synonymous_variant,p.=,ENST00000298510,NM_006793.4,NM_001302272.1;PRDX3,non_coding_transcript_exon_variant,,ENST00000463322,;PRDX3,upstream_gene_variant,,ENST00000494433,;	A	ENST00000298510	Transcript	synonymous_variant	418/1591	375/771	125/256	V	gtG/gtT	COSM5570648	1		-1	PRDX3	HGNC	HGNC:9354	protein_coding	YES	CCDS7611.1	ENSP00000298510	P30048		UPI0000000C81	NM_006793.4,NM_001302272.1			4/7		PROSITE_profiles:PS51352,hmmpanther:PTHR10681:SF114,hmmpanther:PTHR10681,Pfam_domain:PF00578,Gene3D:3.40.30.10,Superfamily_domains:SSF52833											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	84	119173809	119173809	C	A	1	0	0	0	0	0	0	0	1	12598	813	29	2		2	PRDX3	10	119173809	Silent	SNP	C	C3N-01842_TP	6760601	119173809	14623613	218	28072											
GPR26	0	.	GRCh38	chr10	123666959	123666959	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctcagcttcctgctctcCttcgtcgtgctctgctgcac	2	14	8	17	2	3	0	1	0	3	0	8	0	4	0	2	0	5	6	2	0	0	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.552C>G	p.=	p.S184S	ENST00000284674	1/3	314	285	29	415	415	0	strelka-varscan-mutect	GPR26,synonymous_variant,p.=,ENST00000284674,NM_153442.3;	G	ENST00000284674	Transcript	synonymous_variant	605/7514	552/1014	184/337	S	tcC/tcG		1		1	GPR26	HGNC	HGNC:4481	protein_coding	YES	CCDS7636.1	ENSP00000284674	Q8NDV2		UPI000006E821	NM_153442.3			1/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF6,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	84	123666959	123666959	C	G	1	0	0	0	0	0	0	0	1	6568	668	24	4		4	GPR26	10	123666959	Silent	SNP	C	C3N-01842_TP	4493150	123666959	10130463	219	28073											
C10orf90	0	.	GRCh38	chr10	126429810	126429810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatcgcatatgcatctcCttctctgaaatgcaccgttc	9	14	6	12	2	2	2	0	1	2	1	6	2	2	2	2	0	2	4	2	0	3	4	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1938G>T	p.Lys646Asn	p.K646N	ENST00000284694	7/9	229	206	23	225	225	0	strelka-varscan-mutect	C10orf90,missense_variant,p.Lys646Asn,ENST00000284694,NM_001004298.2;C10orf90,missense_variant,p.Lys599Asn,ENST00000356858,;C10orf90,missense_variant,p.Lys646Asn,ENST00000432642,;C10orf90,missense_variant,p.Lys189Asn,ENST00000424927,;C10orf90,missense_variant,p.Lys50Asn,ENST00000480379,;	A	ENST00000284694	Transcript	missense_variant	2059/3076	1938/2100	646/699	K/N	aaG/aaT		1		-1	C10orf90	HGNC	HGNC:26563	protein_coding	YES	CCDS31310.1	ENSP00000284694	Q96M02		UPI00001D808F	NM_001004298.2	deleterious(0)		7/9		Pfam_domain:PF15309,hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	126429810	126429810	C	A	1	0	0	0	0	1	0	0	0	1773	680	24	2		2	C10orf90	10	126429810	Missense_Mutation	SNP	C	C3N-01842_TP	2762851	126429810	7367612	220	28074											
MKI67	0	.	GRCh38	chr10	128122996	128122996	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgaaattatgtaatattgCctgcaagtgaaaagaagggg	16	10	11	4	0	0	3	0	2	0	1	0	3	0	3	1	2	2	2	1	2	8	4	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.172G>T	p.Ala58Ser	p.A58S	ENST00000368654	4/15	111	77	34	79	79	0	strelka-varscan-mutect	MKI67,missense_variant,p.Ala58Ser,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Ala58Ser,ENST00000368653,NM_001145966.1;MKI67,intron_variant,,ENST00000478293,;	A	ENST00000368654	Transcript	missense_variant,splice_region_variant	548/12678	172/9771	58/3256	A/S	Gca/Tca		1		-1	MKI67	HGNC	HGNC:7107	protein_coding	YES	CCDS7659.1	ENSP00000357643	P46013		UPI000013DB54	NM_002417.4	deleterious(0)		4/15		Gene3D:2.60.200.20,Pfam_domain:PF00498,PROSITE_profiles:PS50006,hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF17,SMART_domains:SM00240,Superfamily_domains:SSF49879																	MODERATE	1	SNV	2			1										PASS		rs1030439103	.												A	3	1	84	128122996	128122996	C	A	1	0	0	0	0	1	0	0	0	9566	753	26	2		2	MKI67	10	128122996	Missense_Mutation	SNP	C	C3N-01842_TP	1693186	128122996	5674426	221	28075											
CDHR5	0	.	GRCh38	chr11	624212	624212	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagagcggggcggggactcaCcaatgtgcctccgctctgac	7	6	15	13	3	2	2	1	1	1	1	3	4	3	3	3	4	2	1	3	4	1	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.312+1G>T		p.X104_splice	ENST00000358353		234	185	49	266	265	1	strelka-varscan-mutect	CDHR5,splice_donor_variant,,ENST00000358353,;CDHR5,splice_donor_variant,,ENST00000397542,NM_001171968.1,NM_021924.4;CDHR5,splice_donor_variant,,ENST00000349570,NM_031264.3;CDHR5,splice_donor_variant,,ENST00000526077,;CDHR5,splice_donor_variant,,ENST00000534311,;CDHR5,splice_donor_variant,,ENST00000531088,;SCT,downstream_gene_variant,,ENST00000176195,NM_021920.2;CDHR5,downstream_gene_variant,,ENST00000529337,;CDHR5,upstream_gene_variant,,ENST00000532949,;CDHR5,splice_donor_variant,,ENST00000531177,;CDHR5,splice_donor_variant,,ENST00000531899,;	A	ENST00000358353	Transcript	splice_donor_variant	-/3635	312/2538	104/845				1		-1	CDHR5	HGNC	HGNC:7521	protein_coding	YES	CCDS7707.1	ENSP00000351118	Q9HBB8		UPI0000456444					4/15																		HIGH		SNV	5			1										PASS		.	.												A	5	1	84	624212	624212	C	A	1	0	0	0	0	0	0	1	0	2825	521	18	2		2	CDHR5	11	624212	Splice_Site	SNP	C	C3N-01842_TP		624212	134462410	222	28076											
AP2A2	0	.	GRCh38	chr11	1008018	1008018	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaacgcacgcacacctgaAcctgcagaccaagcccgtgg	11	5	9	16	3	0	2	0	1	0	1	0	2	0	2	4	1	4	3	4	1	3	1	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.2306A>G	p.Asn769Ser	p.N769S	ENST00000332231	18/22	340	272	68	443	442	1	strelka-varscan-mutect	AP2A2,missense_variant,p.Asn769Ser,ENST00000332231,NM_001242837.1;AP2A2,missense_variant,p.Asn768Ser,ENST00000448903,NM_012305.3;AP2A2,intron_variant,,ENST00000534328,;MUC6,downstream_gene_variant,,ENST00000421673,NM_005961.2;AP2A2,non_coding_transcript_exon_variant,,ENST00000525891,;AP2A2,non_coding_transcript_exon_variant,,ENST00000529438,;AP2A2,3_prime_UTR_variant,,ENST00000528815,;AP2A2,non_coding_transcript_exon_variant,,ENST00000531497,;AP2A2,non_coding_transcript_exon_variant,,ENST00000526401,;AP2A2,non_coding_transcript_exon_variant,,ENST00000529427,;AP2A2,upstream_gene_variant,,ENST00000528816,;AP2A2,downstream_gene_variant,,ENST00000526376,;	G	ENST00000332231	Transcript	missense_variant	2519/4656	2306/2823	769/940	N/S	aAc/aGc		1		1	AP2A2	HGNC	HGNC:562	protein_coding	YES	CCDS73234.1	ENSP00000327694	O94973		UPI000050AA18	NM_001242837.1	tolerated(1)		18/22		Gene3D:1kyfA01,PIRSF_domain:PIRSF037091,Pfam_domain:PF02883,SMART_domains:SM00809,Superfamily_domains:SSF49348																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	1008018	1008018	A	G	1	0	0	0	0	1	0	0	0	856	43	2	5		5	AP2A2	11	1008018	Missense_Mutation	SNP	A	C3N-01842_TP	383806	1008018	134078604	223	28077											
MUC6	0	.	GRCh38	chr11	1024924	1024924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgccggaaggcattgaGactgcaggggtctgtcacga	9	6	17	9	3	2	1	1	1	1	1	2	5	2	3	1	5	2	2	1	5	1	1			C3N-01842_TP	C3N-01842_NB	G	G																c.3145C>A	p.Leu1049Ile	p.L1049I	ENST00000421673	24/33	377	296	81	434	434	0	strelka-varscan-mutect	MUC6,missense_variant,p.Leu1049Ile,ENST00000421673,NM_005961.2;MUC6,upstream_gene_variant,,ENST00000527242,;	T	ENST00000421673	Transcript	missense_variant	3196/8006	3145/7320	1049/2439	L/I	Ctc/Atc	COSM4487133,COSM4487134	1		-1	MUC6	HGNC	HGNC:7517	protein_coding	YES	CCDS44513.1	ENSP00000406861	Q6W4X9		UPI0000251DBE	NM_005961.2	tolerated(0.07)		24/33		PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF264,hmmpanther:PTHR11339											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	84	1024924	1024924	G	T	1	0	0	0	0	1	0	0	0	9980	942	33	2		2	MUC6	11	1024924	Missense_Mutation	SNP	G	C3N-01842_TP	16906	1024924	134061698	224	28078											
MUC5AC	0	.	GRCh38	chr11	1187982	1187982	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccgagagccacccggaggtGagcattgaacacctgggcca	10	4	14	13	2	0	3	0	2	0	1	0	5	0	4	5	3	3	1	5	3	1	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.9837G>A	p.=	p.V3279V	ENST00000621226	31/49	174	144	30	160	160	0	strelka-varscan-mutect	MUC5AC,synonymous_variant,p.=,ENST00000621226,NM_001304359.1;	A	ENST00000621226	Transcript	synonymous_variant	9884/17448	9837/16965	3279/5654	V	gtG/gtA		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1			31/49		Pfam_domain:PF13330																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	84	1187982	1187982	G	A	1	0	0	0	0	0	0	0	1	9978	1277	45	3		3	MUC5AC	11	1187982	Silent	SNP	G	C3N-01842_TP	163058	1187982	133898640	225	28079											
MUC5AC	0	.	GRCh38	chr11	1196452	1196452	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaacccctcctactgctaCgggaatgacagcgccagcct	10	6	9	16	2	0	1	0	1	0	0	1	2	1	2	5	1	7	2	5	1	4	2	rs200151958		C3N-01842_TP	C3N-01842_NB	C	C																c.15702C>A	p.Tyr5234Ter	p.Y5234*	ENST00000621226	38/49	318	264	54	340	340	0	strelka-varscan-mutect	MUC5AC,stop_gained,p.Tyr5234Ter,ENST00000621226,NM_001304359.1;	A	ENST00000621226	Transcript	stop_gained	15749/17448	15702/16965	5234/5654	Y/*	taC/taA	rs200151958	1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1			38/49		Gene3D:2.10.25.10,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF291,Superfamily_domains:SSF57567																	HIGH	1	SNV	5			1										PASS		rs200151958	.												A	4	1	84	1196452	1196452	C	A	1	0	0	0	0	0	1	0	0	9978	547	19	1		1	MUC5AC	11	1196452	Nonsense_Mutation	SNP	C	C3N-01842_TP	8470	1196452	133890170	226	28080											
OR51D1	0	.	GRCh38	chr11	4640359	4640359	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacacatactgtcacacactCcttctgtctgcaccaagata	13	10	4	14	0	3	1	1	0	2	1	4	1	4	1	2	0	3	1	2	0	4	3			C3N-01842_TP	C3N-01842_NB	C	C																c.569C>A	p.Ser190Tyr	p.S190Y	ENST00000357605	1/1	644	486	158	597	597	0	strelka-varscan-mutect	OR51D1,missense_variant,p.Ser190Tyr,ENST00000357605,NM_001004751.2;OR51E1,upstream_gene_variant,,ENST00000396952,NM_152430.3;	A	ENST00000357605	Transcript	missense_variant	645/1124	569/975	190/324	S/Y	tCc/tAc	COSM5372513	1		1	OR51D1	HGNC	HGNC:15193	protein_coding	YES	CCDS31357.1	ENSP00000350222	Q8NGF3	A0A126GVM2	UPI000004B21E	NM_001004751.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF166,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		rs772148760	.												A	3	1	84	4640359	4640359	C	A	1	0	0	0	0	1	0	0	0	11167	855	30	2		2	OR51D1	11	4640359	Missense_Mutation	SNP	C	C3N-01842_TP	3443907	4640359	130446263	227	28081											
OR51E2	0	.	GRCh38	chr11	4682257	4682257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagtgggaaaaaaaagaggGatccgcggaccacagccacg	15	2	14	10	3	0	1	0	0	0	1	1	4	1	4	3	3	1	1	3	3	4	0	rs767765213		C3N-01842_TP	C3N-01842_NB	G	G																c.455C>A	p.Ser152Tyr	p.S152Y	ENST00000396950	2/2	536	415	121	605	605	0	strelka-varscan-mutect	OR51E2,missense_variant,p.Ser152Tyr,ENST00000396950,NM_030774.3;OR51E2,downstream_gene_variant,,ENST00000532598,;	T	ENST00000396950	Transcript	missense_variant	695/2781	455/963	152/320	S/Y	tCc/tAc	rs767765213,COSM3447737	1		-1	OR51E2	HGNC	HGNC:15195	protein_coding	YES	CCDS7751.1	ENSP00000380153	Q9H255	A0A126GVK0	UPI000003B49B	NM_030774.3	tolerated(0.36)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF92,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV			0,1	1										PASS		rs767765213	.												T	3	4	84	4682257	4682257	G	T	1	0	0	0	0	1	0	0	0	11169	1174	41	2		2	OR51E2	11	4682257	Missense_Mutation	SNP	G	C3N-01842_TP	41898	4682257	130404365	228	28082											
OR51B5	0	.	GRCh38	chr11	5343404	5343404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagaagaaggagggtgcCattgccaaaaaggatggata	17	6	14	4	0	0	2	0	1	0	2	0	6	0	5	2	4	2	0	2	4	6	2	rs748373536		C3N-01842_TP	C3N-01842_NB	C	C																c.121G>T	p.Gly41Cys	p.G41C	ENST00000300773	1/1	206	168	38	245	242	3	strelka-varscan-mutect	OR51B5,missense_variant,p.Gly41Cys,ENST00000300773,NM_001005567.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,non_coding_transcript_exon_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	A	ENST00000300773	Transcript	missense_variant	121/939	121/939	41/312	G/C	Ggc/Tgc	rs748373536	1		-1	OR51B5	HGNC	HGNC:19599	protein_coding	YES	CCDS31378.1	ENSP00000300773	Q9H339		UPI000013E697	NM_001005567.2	tolerated(0.59)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF76,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		rs748373536	.												A	3	1	84	5343404	5343404	C	A	1	0	0	0	0	1	0	0	0	11165	594	21	2		2	OR51B5	11	5343404	Missense_Mutation	SNP	C	C3N-01842_TP	661147	5343404	129743218	229	28083											
OR52E8	0	.	GRCh38	chr11	5857682	5857682	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaactgggtgtgattagaCgtagacattcttcctgccat	9	13	11	8	1	1	3	0	1	1	2	2	4	2	4	2	2	2	1	2	2	3	4	rs774887935		C3N-01842_TP	C3N-01842_NB	C	C																c.21G>T	p.=	p.T7T	ENST00000537935	1/1	136	102	34	131	131	0	strelka-varscan-mutect	OR52E8,synonymous_variant,p.=,ENST00000537935,NM_001005168.1;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	A	ENST00000537935	Transcript	synonymous_variant	53/1061	21/954	7/317	T	acG/acT	rs774887935,COSM4034245,COSM5286741	1		-1	OR52E8	HGNC	HGNC:15217	protein_coding	YES	CCDS31400.1	ENSP00000444054	Q6IFG1	A0A126GVH0	UPI000004B211	NM_001005168.1			1/1		hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF170,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											0,1,1						LOW	1	SNV			0,1,1	1										PASS		rs774887935	.												A	2	1	84	5857682	5857682	C	A	1	0	0	0	0	0	0	0	1	11191	523	19	1		1	OR52E8	11	5857682	Silent	SNP	C	C3N-01842_TP	514278	5857682	129228940	230	28084											
KCNC1	0	.	GRCh38	chr11	17772537	17772537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtaaactctccacaccaCagtactcagagtgacacatg	13	8	7	13	1	2	2	1	1	1	1	4	2	2	2	2	0	2	2	2	0	3	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1443C>A	p.His481Gln	p.H481Q	ENST00000265969	2/4	314	236	78	362	362	0	strelka-varscan-mutect	KCNC1,missense_variant,p.His481Gln,ENST00000379472,NM_004976.4;KCNC1,missense_variant,p.His481Gln,ENST00000265969,NM_001112741.1;KCNC1,upstream_gene_variant,,ENST00000525802,;	A	ENST00000265969	Transcript	missense_variant	2634/3887	1443/1758	481/585	H/Q	caC/caA		1		1	KCNC1	HGNC	HGNC:6233	protein_coding	YES	CCDS44547.1	ENSP00000265969	P48547		UPI0000E2291F	NM_001112741.1	tolerated(0.24)		2/4		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF157,Prints_domain:PR01581																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	84	17772537	17772537	C	A	1	0	0	0	0	1	0	0	0	7930	477	17	2		2	KCNC1	11	17772537	Missense_Mutation	SNP	C	C3N-01842_TP	11914855	17772537	117314085	231	28085											
ELP4	0	.	GRCh38	chr11	31520073	31520073	+	Frame_Shift_Del	DEL	G	G	-																															caggtggaggtttagccgttGgaacagttcttctaattggt																								novel		C3N-01842_TP	C3N-01842_NB	G	G																c.242delG	p.Gly81GlufsTer5	p.G81Efs*5	ENST00000395934	2/12	259	218	41	224	224	0	sindel-varindel-pindel	ELP4,frameshift_variant,p.Gly81GlufsTer5,ENST00000395934,NM_001288726.1;ELP4,frameshift_variant,p.Gly81GlufsTer5,ENST00000350638,NM_019040.4;ELP4,frameshift_variant,p.Gly81GlufsTer5,ENST00000379163,NM_001288725.1;ELP4,frameshift_variant,p.Gly81GlufsTer5,ENST00000474374,;	-	ENST00000395934	Transcript	frameshift_variant	248/1961	241/1608	81/535	G/X	Gga/ga		1		1	ELP4	HGNC	HGNC:1171	protein_coding	YES	CCDS73272.1	ENSP00000379267		G5E9D4	UPI000013FA14	NM_001288726.1			2/12		Low_complexity_(Seg):seg,hmmpanther:PTHR12896,Gene3D:3.40.50.300,Pfam_domain:PF05625																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	84	31520073	31520073	G	-	1	0	1	0	1	0	0	0	0	4916	1349	47	0		0	ELP4	11	31520073	Frame_Shift_Del	DEL	G	C3N-01842_TP	13747536	31520073	103566549	232	28086											
WT1	0	.	GRCh38	chr11	32428519	32428519	+	Silent	SNP	G	G	T																															agcgagccctgctggcccatGggatcctcatgcttgaatga																								novel		C3N-01842_TP	C3N-01842_NB	G	G																c.747C>A	p.=	p.P249P	ENST00000332351	2/10	538	443	95	637	636	1	strelka-varscan-mutect	WT1,synonymous_variant,p.=,ENST00000332351,NM_024426.4;WT1,synonymous_variant,p.=,ENST00000452863,NM_000378.4;WT1,synonymous_variant,p.=,ENST00000379079,NM_001198551.1;WT1,synonymous_variant,p.=,ENST00000530998,NM_001198552.1;WT1,synonymous_variant,p.=,ENST00000448076,NM_024424.3;WT1,5_prime_UTR_variant,,ENST00000527775,;WT1,synonymous_variant,p.=,ENST00000379077,;	T	ENST00000332351	Transcript	synonymous_variant	1032/3122	747/1554	249/517	P	ccC/ccA		1		-1	WT1	HGNC	HGNC:12796	protein_coding	YES	CCDS7878.2	ENSP00000331327		J3KNN9	UPI0000D625D7	NM_024426.4			2/10		Pfam_domain:PF02165																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	84	32428519	32428519	G	T	1	0	0	0	0	0	0	0	1	17965	1335	47	2		2	WT1	11	32428519	Silent	SNP	G	C3N-01842_TP	908446	32428519	102658103	233	28087	589	2									
WT1	0	.	GRCh38	chr11	32428520	32428520	+	Missense_Mutation	SNP	G	G	T																															gcgagccctgctggcccatgGgatcctcatgcttgaatgag																								novel		C3N-01842_TP	C3N-01842_NB	G	G																c.746C>A	p.Pro249His	p.P249H	ENST00000332351	2/10	539	442	97	631	629	2	strelka-varscan-mutect	WT1,missense_variant,p.Pro249His,ENST00000332351,NM_024426.4;WT1,missense_variant,p.Pro249His,ENST00000452863,NM_000378.4;WT1,missense_variant,p.Pro37His,ENST00000379079,NM_001198551.1;WT1,missense_variant,p.Pro37His,ENST00000530998,NM_001198552.1;WT1,missense_variant,p.Pro249His,ENST00000448076,NM_024424.3;WT1,5_prime_UTR_variant,,ENST00000527775,;WT1,missense_variant,p.Pro249His,ENST00000379077,;	T	ENST00000332351	Transcript	missense_variant	1031/3122	746/1554	249/517	P/H	cCc/cAc		1		-1	WT1	HGNC	HGNC:12796	protein_coding	YES	CCDS7878.2	ENSP00000331327		J3KNN9	UPI0000D625D7	NM_024426.4	deleterious_low_confidence(0)		2/10		Pfam_domain:PF02165																	MODERATE	1	SNV	1			1										PASS		rs1213160959	.												T	3	4	84	32428520	32428520	G	T	1	0	0	0	0	1	0	0	0	17965	1232	43	2		2	WT1	11	32428520	Missense_Mutation	SNP	G	C3N-01842_TP	1	32428520	102658102	234	28088	589	2									
RAG2	0	.	GRCh38	chr11	36593289	36593289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgaatttctatcttgttgtCctctaaagagatgatgttgc	10	16	8	7	1	3	2	0	1	3	1	4	4	4	2	1	0	1	2	1	0	4	6	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.880G>T	p.Asp294Tyr	p.D294Y	ENST00000618712	3/3	771	612	159	721	721	0	strelka-varscan-mutect	RAG2,missense_variant,p.Asp294Tyr,ENST00000618712,NM_001243785.1,NM_001243786.1;RAG2,missense_variant,p.Asp294Tyr,ENST00000311485,NM_000536.3;C11orf74,upstream_gene_variant,,ENST00000446510,NM_001276723.1,NM_001276722.1;C11orf74,upstream_gene_variant,,ENST00000617650,NM_001276724.1;C11orf74,upstream_gene_variant,,ENST00000532470,;C11orf74,upstream_gene_variant,,ENST00000334307,NM_138787.3;C11orf74,upstream_gene_variant,,ENST00000534635,NM_001276725.1;C11orf74,upstream_gene_variant,,ENST00000531554,;C11orf74,upstream_gene_variant,,ENST00000347206,NM_001276727.1,NM_001276726.1;C11orf74,upstream_gene_variant,,ENST00000530697,;RAG2,downstream_gene_variant,,ENST00000529083,;RAG2,downstream_gene_variant,,ENST00000527033,;RAG2,downstream_gene_variant,,ENST00000532616,;C11orf74,upstream_gene_variant,,ENST00000527108,;RAG2,intron_variant,,ENST00000524423,;RAG2,downstream_gene_variant,,ENST00000528428,;RAG2,downstream_gene_variant,,ENST00000534379,;RAG2,downstream_gene_variant,,ENST00000530276,;RAG1,downstream_gene_variant,,ENST00000534663,;C11orf74,upstream_gene_variant,,ENST00000528092,;C11orf74,upstream_gene_variant,,ENST00000524539,;	A	ENST00000618712	Transcript	missense_variant	1474/2818	880/1584	294/527	D/Y	Gac/Tac		1		-1	RAG2	HGNC	HGNC:9832	protein_coding	YES	CCDS7903.1	ENSP00000478672	P55895		UPI00001330E9	NM_001243785.1,NM_001243786.1	deleterious(0.01)		3/3		Superfamily_domains:0047741,Pfam_domain:PF03089,hmmpanther:PTHR10960,hmmpanther:PTHR10960:SF0																	MODERATE	1	SNV	4			1										PASS		.	.												A	3	1	84	36593289	36593289	C	A	1	0	0	0	0	1	0	0	0	13165	855	30	2		2	RAG2	11	36593289	Missense_Mutation	SNP	C	C3N-01842_TP	4164769	36593289	98493333	235	28089											
TRIM48	0	.	GRCh38	chr11	55269271	55269271	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgctgcacatgccccAgcctctgaatctagcgctca	7	9	9	16	2	3	1	1	1	2	0	3	1	3	1	3	0	6	4	3	0	2	1	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.608A>G	p.Gln203Arg	p.Q203R	ENST00000417545	5/6	565	440	125	646	646	0	strelka-varscan-mutect	TRIM48,missense_variant,p.Gln203Arg,ENST00000417545,NM_024114.3;RP11-72M10.2,downstream_gene_variant,,ENST00000526762,;	G	ENST00000417545	Transcript	missense_variant	694/1445	608/675	203/224	Q/R	cAg/cGg		1		1	TRIM48	HGNC	HGNC:19021	protein_coding	YES	CCDS7947.2	ENSP00000402414	Q8IWZ4		UPI0000374413	NM_024114.3	tolerated(0.15)		5/6		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF410																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	55269271	55269271	A	G	1	0	0	0	0	1	0	0	0	17013	188	7	5		5	TRIM48	11	55269271	Missense_Mutation	SNP	A	C3N-01842_TP	18675982	55269271	79817351	236	28090											
OR4C11	0	.	GRCh38	chr11	55604214	55604214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagtacatggggcttcCtagtgtccggctggacttga	10	10	13	8	1	0	2	0	1	0	1	2	3	2	3	2	4	1	3	2	4	4	4	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.160G>A	p.Gly54Arg	p.G54R	ENST00000302231	1/1	291	211	80	263	262	1	strelka-varscan-mutect	OR4C11,missense_variant,p.Gly54Arg,ENST00000302231,NM_001004700.2;	T	ENST00000302231	Transcript	missense_variant	185/1045	160/933	54/310	G/R	Gga/Aga		1		-1	OR4C11	HGNC	HGNC:15167	protein_coding	YES	CCDS31503.1	ENSP00000306651	Q6IEV9	A0A126GVN6	UPI000013E7AD	NM_001004700.2	tolerated(0.06)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF447,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	84	55604214	55604214	C	T	1	0	0	0	0	1	0	0	0	11122	690	24	3		3	OR4C11	11	55604214	Missense_Mutation	SNP	C	C3N-01842_TP	334943	55604214	79482408	237	28091											
OR5D18	0	.	GRCh38	chr11	55819726	55819726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccactcttcctggtttttCtggccatctacaatgtcact	6	16	5	14	0	4	0	1	0	3	0	6	0	6	0	3	2	1	1	3	2	2	4	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.97C>G	p.Leu33Val	p.L33V	ENST00000333976	1/1	204	163	41	174	174	0	strelka-varscan-mutect	OR5D18,missense_variant,p.Leu33Val,ENST00000333976,NM_001001952.1;	G	ENST00000333976	Transcript	missense_variant	97/942	97/942	33/313	L/V	Ctg/Gtg		1		1	OR5D18	HGNC	HGNC:15285	protein_coding	YES	CCDS31510.1	ENSP00000335025	Q8NGL1		UPI0000046197	NM_001001952.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	84	55819726	55819726	C	G	1	0	0	0	0	1	0	0	0	11227	912	32	4		4	OR5D18	11	55819726	Missense_Mutation	SNP	C	C3N-01842_TP	215512	55819726	79266896	238	28092											
OR5D16	0	.	GRCh38	chr11	55839459	55839459	+	Frame_Shift_Del	DEL	C	C	-																															atgccttcagccagtgggcaCcgcaaagtcttctccacctg																								rs372803354		C3N-01842_TP	C3N-01842_NB	C	C																c.709delC	p.Arg237AlafsTer11	p.R237Afs*11	ENST00000378396	1/1	291	225	66	406	406	0	sindel-varindel-pindel	OR5D16,frameshift_variant,p.Arg237AlafsTer11,ENST00000378396,NM_001005496.1;	-	ENST00000378396	Transcript	frameshift_variant	708/987	708/987	236/328	H/X	caC/ca	rs372803354	1		1	OR5D16	HGNC	HGNC:15283	protein_coding	YES	CCDS31512.1	ENSP00000367649	Q8NGK9		UPI0000046198	NM_001005496.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF243,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	HIGH	1	deletion		1		1										PASS		.	.												-	7	5	84	55839459	55839459	C	-	1	0	1	0	1	0	0	0	0	11226	506	18	0		0	OR5D16	11	55839459	Frame_Shift_Del	DEL	C	C3N-01842_TP	19733	55839459	79247163	239	28093											
OR8H3	0	.	GRCh38	chr11	56122811	56122811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctcgctctcatcactGggccttatgtgattggcttt	4	16	9	12	1	3	1	2	1	2	0	5	1	3	1	2	2	1	2	2	2	1	3			C3N-01842_TP	C3N-01842_NB	G	G																c.439G>A	p.Gly147Arg	p.G147R	ENST00000313472	1/1	279	209	70	288	288	0	strelka-varscan-mutect	OR8H3,missense_variant,p.Gly147Arg,ENST00000313472,NM_001005201.1;	A	ENST00000313472	Transcript	missense_variant	439/939	439/939	147/312	G/R	Ggg/Agg	COSM1703962	1		1	OR8H3	HGNC	HGNC:15309	protein_coding	YES	CCDS31519.1	ENSP00000323928	Q8N146		UPI0000041D25	NM_001005201.1	deleterious(0.02)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	84	56122811	56122811	G	A	1	0	0	0	0	1	0	0	0	11307	1348	47	3		3	OR8H3	11	56122811	Missense_Mutation	SNP	G	C3N-01842_TP	283352	56122811	78963811	240	28094											
OR5T3	0	.	GRCh38	chr11	56252540	56252540	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactccaaaaatgttggtcaAtttcctggcaaaaaataaat	17	11	5	8	0	1	0	1	0	0	0	3	0	3	0	2	2	0	2	2	2	8	3			C3N-01842_TP	C3N-01842_NB	A	A																c.341A>T	p.Asn114Ile	p.N114I	ENST00000303059	1/1	413	311	102	338	338	0	strelka-varscan-mutect	OR5T3,missense_variant,p.Asn114Ile,ENST00000303059,NM_001004747.1;	T	ENST00000303059	Transcript	missense_variant	341/1023	341/1023	114/340	N/I	aAt/aTt	COSM3666400	1		1	OR5T3	HGNC	HGNC:15297	protein_coding	YES	CCDS31524.1	ENSP00000305403	Q8NGG3		UPI0000061E96	NM_001004747.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	84	56252540	56252540	A	T	1	0	0	0	0	1	0	0	0	11251	101	4	4		4	OR5T3	11	56252540	Missense_Mutation	SNP	A	C3N-01842_TP	129729	56252540	78834082	241	28095											
SLC43A3	0	.	GRCh38	chr11	57414946	57414946	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacatacctcgtgccatgtcCccaccggccatgttggtcag	7	9	9	16	2	1	0	1	0	0	0	3	0	2	0	6	2	2	1	6	2	1	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.969G>T	p.=	p.G323G	ENST00000533524	10/14	381	312	69	428	425	3	strelka-varscan-mutect	SLC43A3,synonymous_variant,p.=,ENST00000395123,NM_014096.3;SLC43A3,synonymous_variant,p.=,ENST00000395124,NM_001278201.1,NM_199329.2;SLC43A3,synonymous_variant,p.=,ENST00000352187,NM_017611.2;SLC43A3,synonymous_variant,p.=,ENST00000529554,;SLC43A3,synonymous_variant,p.=,ENST00000533524,NM_001278206.1;SLC43A3,synonymous_variant,p.=,ENST00000530005,;RP11-872D17.8,upstream_gene_variant,,ENST00000529411,;SLC43A3,downstream_gene_variant,,ENST00000529113,;SLC43A3,downstream_gene_variant,,ENST00000528098,;SLC43A3,synonymous_variant,p.=,ENST00000525205,;RP11-872D17.8,non_coding_transcript_exon_variant,,ENST00000534081,;	A	ENST00000533524	Transcript	synonymous_variant	1311/1879	969/1515	323/504	G	ggG/ggT		1		-1	SLC43A3	HGNC	HGNC:17466	protein_coding	YES	CCDS60784.1	ENSP00000434515	Q8NBI5		UPI0001AE6BEC	NM_001278206.1			10/14		hmmpanther:PTHR20765:SF1,hmmpanther:PTHR20765,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	84	57414946	57414946	C	A	1	0	0	0	0	0	0	0	1	14912	610	22	2		2	SLC43A3	11	57414946	Silent	SNP	C	C3N-01842_TP	1162406	57414946	77671676	242	28096											
OSBP	0	.	GRCh38	chr11	59600824	59600824	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatataagaattacctgttCatcaaggctgatgtcactgc	12	12	7	10	0	3	2	3	1	0	1	3	2	3	2	2	1	2	2	2	1	5	4			C3N-01842_TP	C3N-01842_NB	C	C																c.1174G>T	p.Glu392Ter	p.E392*	ENST00000263847	6/14	278	223	55	274	274	0	strelka-varscan-mutect	OSBP,stop_gained,p.Glu392Ter,ENST00000263847,NM_002556.2;OSBP,stop_gained,p.Glu12Ter,ENST00000525357,;OSBP,upstream_gene_variant,,ENST00000528903,;	A	ENST00000263847	Transcript	stop_gained	1654/5083	1174/2424	392/807	E/*	Gaa/Taa	COSM276557	1		-1	OSBP	HGNC	HGNC:8503	protein_coding	YES	CCDS7974.1	ENSP00000263847	P22059		UPI0000130EAF	NM_002556.2			6/14		hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF52											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	84	59600824	59600824	C	A	1	0	0	0	0	0	1	0	0	11339	840	29	2		2	OSBP	11	59600824	Nonsense_Mutation	SNP	C	C3N-01842_TP	2185878	59600824	75485798	243	28097											
ZP1	0	.	GRCh38	chr11	60869251	60869251	+	Frame_Shift_Del	DEL	C	C	-																															tcggccgattacagaggctgCcacgtgctggagaaggtagg																								novel		C3N-01842_TP	C3N-01842_NB	C	C																c.304delC	p.His102ThrfsTer11	p.H102Tfs*11	ENST00000278853	2/12	197	148	49	267	267	0	sindel-varindel-pindel	ZP1,frameshift_variant,p.His102ThrfsTer11,ENST00000278853,NM_207341.3;ZP1,frameshift_variant,p.His33ThrfsTer40,ENST00000540908,;ZP1,upstream_gene_variant,,ENST00000537203,;ZP1,upstream_gene_variant,,ENST00000543020,;ZP1,upstream_gene_variant,,ENST00000542971,;	-	ENST00000278853	Transcript	frameshift_variant	303/1954	303/1917	101/638	C/X	tgC/tg		1		1	ZP1	HGNC	HGNC:13187	protein_coding	YES	CCDS31572.1	ENSP00000278853	P60852	V9HWI9	UPI0000351AA0	NM_207341.3			2/12		hmmpanther:PTHR23343:SF41,hmmpanther:PTHR23343																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	84	60869251	60869251	C	-	1	0	1	0	1	0	0	0	0	18807	747	26	0		0	ZP1	11	60869251	Frame_Shift_Del	DEL	C	C3N-01842_TP	1268427	60869251	74217371	244	28098											
CD6	0	.	GRCh38	chr11	61008637	61008637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgcgatgacacttgggaCctggaggacgcccacgtggt	7	8	16	10	3	0	1	0	1	0	0	0	5	0	4	2	4	1	0	2	4	0	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.573C>A	p.Asp191Glu	p.D191E	ENST00000313421	4/13	172	144	28	263	262	1	strelka-varscan-mutect	CD6,missense_variant,p.Asp191Glu,ENST00000313421,NM_006725.4;CD6,missense_variant,p.Asp191Glu,ENST00000352009,NM_001254750.1;CD6,missense_variant,p.Asp191Glu,ENST00000452451,NM_001254751.1;CD6,missense_variant,p.Asp191Glu,ENST00000433107,;CD6,missense_variant,p.Asp191Glu,ENST00000542157,;CD6,missense_variant,p.Asp35Glu,ENST00000538611,;CD6,intron_variant,,ENST00000545105,;CD6,downstream_gene_variant,,ENST00000538288,;CD6,missense_variant,p.Asp191Glu,ENST00000344931,;CD6,non_coding_transcript_exon_variant,,ENST00000541964,;CD6,downstream_gene_variant,,ENST00000542254,;	A	ENST00000313421	Transcript	missense_variant	759/3252	573/2007	191/668	D/E	gaC/gaA		1		1	CD6	HGNC	HGNC:1691	protein_coding	YES	CCDS7999.1	ENSP00000323280	P30203		UPI000013F532	NM_006725.4	deleterious(0.02)		4/13		PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF331,PROSITE_patterns:PS00420,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487,Prints_domain:PR00258																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	61008637	61008637	C	A	1	0	0	0	0	1	0	0	0	2732	506	18	2		2	CD6	11	61008637	Missense_Mutation	SNP	C	C3N-01842_TP	139386	61008637	74077985	245	28099											
MYRF	0	.	GRCh38	chr11	61766217	61766217	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcccaaggctccctatgccCcagggtgagtaagggcaggg	9	5	15	12	0	0	1	0	1	0	0	1	1	1	1	4	4	2	3	4	4	3	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.394C>G	p.Pro132Ala	p.P132A	ENST00000278836	3/27	78	59	19	84	84	0	strelka-varscan-mutect	MYRF,missense_variant,p.Pro132Ala,ENST00000278836,NM_001127392.2;MYRF,missense_variant,p.Pro123Ala,ENST00000265460,NM_013279.3;TMEM258,downstream_gene_variant,,ENST00000535042,;MYRF,non_coding_transcript_exon_variant,,ENST00000537766,;	G	ENST00000278836	Transcript	missense_variant	490/5927	394/3456	132/1151	P/A	Cca/Gca		1		1	MYRF	HGNC	HGNC:1181	protein_coding	YES	CCDS44622.1	ENSP00000278836	Q9Y2G1		UPI0000D45F7B	NM_001127392.2	tolerated(0.06)		3/27		hmmpanther:PTHR13029,hmmpanther:PTHR13029:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	61766217	61766217	C	G	1	0	0	0	0	1	0	0	0	10101	637	22	4		4	MYRF	11	61766217	Missense_Mutation	SNP	C	C3N-01842_TP	757580	61766217	73320405	246	28100											
AHNAK	0	.	GRCh38	chr11	62524435	62524435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacttctgggccctttatatCcaaactgggagctttaatgt	9	14	8	10	0	1	0	0	0	1	0	2	1	2	1	2	2	2	1	2	2	4	6	rs754013307		C3N-01842_TP	C3N-01842_NB	C	C																c.9982G>T	p.Asp3328Tyr	p.D3328Y	ENST00000378024	5/5	310	225	85	268	267	1	strelka-varscan-mutect	AHNAK,missense_variant,p.Asp3328Tyr,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;	A	ENST00000378024	Transcript	missense_variant	10257/18787	9982/17673	3328/5890	D/Y	Gat/Tat	rs754013307,COSM3980497,COSM4909154	1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2	deleterious(0)		5/5													0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs754013307	.												A	3	1	84	62524435	62524435	C	A	1	0	0	0	0	1	0	0	0	491	855	30	2		2	AHNAK	11	62524435	Missense_Mutation	SNP	C	C3N-01842_TP	758218	62524435	72562187	247	28101											
PPP1R14B	0	.	GRCh38	chr11	64246445	64246445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtagaggcgcgtgagctgctCcaggatccactcctctaggt	7	9	13	12	2	1	2	0	1	1	1	4	3	4	3	3	3	2	3	3	3	2	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.229G>C	p.Glu77Gln	p.E77Q	ENST00000309318	1/4	213	172	41	219	219	0	strelka-varscan-mutect	PPP1R14B,missense_variant,p.Glu77Gln,ENST00000309318,NM_138689.2;FKBP2,downstream_gene_variant,,ENST00000394540,NM_057092.2;PPP1R14B,upstream_gene_variant,,ENST00000542235,;FKBP2,downstream_gene_variant,,ENST00000309366,NM_004470.3;FKBP2,downstream_gene_variant,,ENST00000535135,;FKBP2,downstream_gene_variant,,ENST00000449942,NM_001135208.1;PPP1R14B,upstream_gene_variant,,ENST00000392210,;RP11-783K16.13,downstream_gene_variant,,ENST00000545800,;RP11-783K16.5,intron_variant,,ENST00000544553,;RP11-783K16.5,upstream_gene_variant,,ENST00000538355,;FKBP2,downstream_gene_variant,,ENST00000541388,;FKBP2,downstream_gene_variant,,ENST00000536642,;	G	ENST00000309318	Transcript	missense_variant	497/982	229/444	77/147	E/Q	Gag/Cag		1		-1	PPP1R14B	HGNC	HGNC:9057	protein_coding	YES	CCDS31596.1	ENSP00000310117	Q96C90		UPI000006D596	NM_138689.2	tolerated(0.1)		1/4		Superfamily_domains:0039331,Gene3D:1j2mA00,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05361,hmmpanther:PTHR16188,hmmpanther:PTHR16188:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	64246445	64246445	C	G	1	0	0	0	0	1	0	0	0	12470	864	30	4		4	PPP1R14B	11	64246445	Missense_Mutation	SNP	C	C3N-01842_TP	1722010	64246445	70840177	248	28102											
NRXN2	0	.	GRCh38	chr11	64622972	64622972	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccagcgccagcaccttGagcccattgtagtagaggcc	8	6	13	14	2	0	2	0	1	0	1	0	2	0	2	5	2	3	3	5	2	2	4	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.3954C>A	p.=	p.L1318L	ENST00000265459	21/23	431	340	91	464	463	1	strelka-varscan-mutect	NRXN2,synonymous_variant,p.=,ENST00000265459,NM_015080.3;NRXN2,synonymous_variant,p.=,ENST00000377559,NM_138732.2;NRXN2,synonymous_variant,p.=,ENST00000409571,;NRXN2,synonymous_variant,p.=,ENST00000377551,;NRXN2,synonymous_variant,p.=,ENST00000301894,NM_138734.2;NRXN2,synonymous_variant,p.=,ENST00000423049,;NRXN2,upstream_gene_variant,,ENST00000475737,;NRXN2,non_coding_transcript_exon_variant,,ENST00000464307,;	T	ENST00000265459	Transcript	synonymous_variant	4416/6621	3954/5139	1318/1712	L	ctC/ctA		1		-1	NRXN2	HGNC	HGNC:8009	protein_coding	YES	CCDS8077.1	ENSP00000265459	Q9P2S2		UPI0000130AA2	NM_015080.3			21/23		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF593,SMART_domains:SM00282																	LOW	1	SNV	5			1										PASS		rs1249054849	.												T	2	4	84	64622972	64622972	G	T	1	0	0	0	0	0	0	0	1	10725	1277	45	2		2	NRXN2	11	64622972	Silent	SNP	G	C3N-01842_TP	376527	64622972	70463650	249	28103											
ATG2A	0	.	GRCh38	chr11	64903660	64903660	+	Frame_Shift_Del	DEL	C	C	-																															gcggagtcatcgaggatgaaCctgggggggaacagggctga																								novel		C3N-01842_TP	C3N-01842_NB	C	C																c.3465delG	p.Arg1155SerfsTer38	p.R1155Sfs*38	ENST00000377264	25/41	81	68	13	94	94	0	sindel-varindel	ATG2A,frameshift_variant,p.Arg1155SerfsTer38,ENST00000377264,NM_015104.2;ATG2A,frameshift_variant,p.Arg957SerfsTer38,ENST00000418259,;ATG2A,intron_variant,,ENST00000421419,;MIR6749,upstream_gene_variant,,ENST00000617008,;	-	ENST00000377264	Transcript	frameshift_variant,splice_region_variant	3578/6357	3465/5817	1155/1938	R/X	agG/ag		1		-1	ATG2A	HGNC	HGNC:29028	protein_coding	YES	CCDS31602.1	ENSP00000366475	Q2TAZ0		UPI00001C1F21	NM_015104.2			25/41		Pfam_domain:PF13329,hmmpanther:PTHR13190,hmmpanther:PTHR13190:SF21																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	84	64903660	64903660	C	-	1	0	1	0	1	0	0	0	0	1245	521	18	0		0	ATG2A	11	64903660	Frame_Shift_Del	DEL	C	C3N-01842_TP	280688	64903660	70182962	250	28104	590	2									
ATG2A	0	.	GRCh38	chr11	64903661	64903661	+	Splice_Site	SNP	C	C	A																															cggagtcatcgaggatgaacCtgggggggaacagggctgag																								novel		C3N-01842_TP	C3N-01842_NB	C	C																c.3465-1G>T		p.X1155_splice	ENST00000377264		91	76	15	96	96	0	strelka-mutect	ATG2A,splice_acceptor_variant,,ENST00000377264,NM_015104.2;ATG2A,splice_acceptor_variant,,ENST00000418259,;ATG2A,intron_variant,,ENST00000421419,;MIR6749,upstream_gene_variant,,ENST00000617008,;	A	ENST00000377264	Transcript	splice_acceptor_variant	-/6357	3465/5817	1155/1938				1		-1	ATG2A	HGNC	HGNC:29028	protein_coding	YES	CCDS31602.1	ENSP00000366475	Q2TAZ0		UPI00001C1F21	NM_015104.2				24/40																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	84	64903661	64903661	C	A	1	0	0	0	0	0	0	1	0	1245	695	24	2		2	ATG2A	11	64903661	Splice_Site	SNP	C	C3N-01842_TP	1	64903661	70182961	251	28105	590	2									
RBM14	0	.	GRCh38	chr11	66625197	66625197	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagccagccacagctgctGcctatgccagccagccagca	10	4	9	18	0	0	0	0	0	0	0	0	0	0	0	6	0	9	3	6	0	1	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1321G>C	p.Ala441Pro	p.A441P	ENST00000310137	2/3	208	182	26	188	188	0	strelka-varscan-mutect	RBM14,missense_variant,p.Ala441Pro,ENST00000310137,NM_006328.3;RBM14-RBM4,intron_variant,,ENST00000412278,NM_001198845.1;RBM14,intron_variant,,ENST00000393979,NM_001198836.1;RBM14-RBM4,intron_variant,,ENST00000500635,NM_001198846.1;RBM14,intron_variant,,ENST00000409738,NM_001198837.1;RBM14,downstream_gene_variant,,ENST00000409372,;RBM14,downstream_gene_variant,,ENST00000443702,;RBM14-RBM4,intron_variant,,ENST00000511114,;RBM14,downstream_gene_variant,,ENST00000461478,;RBM14,downstream_gene_variant,,ENST00000496694,;RBM14-RBM4,intron_variant,,ENST00000421355,;	C	ENST00000310137	Transcript	missense_variant	1460/2828	1321/2010	441/669	A/P	Gcc/Ccc		1		1	RBM14	HGNC	HGNC:14219	protein_coding	YES	CCDS8147.1	ENSP00000311747	Q96PK6	A0A0S2Z4Z0	UPI0000073D46	NM_006328.3	tolerated_low_confidence(0.26)		2/3		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	84	66625197	66625197	G	C	1	0	0	0	0	1	0	0	0	13281	1319	46	4		4	RBM14	11	66625197	Missense_Mutation	SNP	G	C3N-01842_TP	1721536	66625197	68461425	252	28106											
RCE1	0	.	GRCh38	chr11	66843507	66843507	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgtcggtgtcgcggccgGagcggccgcccgagtcggcg	2	6	19	14	9	0	0	0	0	0	0	3	2	0	1	3	5	2	1	3	5	0	0	rs111716594		C3N-01842_TP	C3N-01842_NB	G	G																c.52G>T	p.Glu18Ter	p.E18*	ENST00000309657	1/8	161	129	32	238	238	0	strelka-varscan-mutect	RCE1,stop_gained,p.Glu18Ter,ENST00000309657,NM_005133.2;RCE1,stop_gained,p.Glu18Ter,ENST00000524506,;C11orf80,downstream_gene_variant,,ENST00000525908,NM_024650.3;C11orf80,downstream_gene_variant,,ENST00000532565,;C11orf80,downstream_gene_variant,,ENST00000525449,;C11orf80,downstream_gene_variant,,ENST00000360962,;C11orf80,downstream_gene_variant,,ENST00000540737,NM_001302084.1;C11orf80,downstream_gene_variant,,ENST00000527634,;PC,downstream_gene_variant,,ENST00000529047,;RCE1,upstream_gene_variant,,ENST00000525356,NM_001032279.1;C11orf80,downstream_gene_variant,,ENST00000531415,;RCE1,upstream_gene_variant,,ENST00000534645,;RCE1,stop_gained,p.Glu18Ter,ENST00000524849,;RCE1,non_coding_transcript_exon_variant,,ENST00000533277,;C11orf80,downstream_gene_variant,,ENST00000532727,;RCE1,upstream_gene_variant,,ENST00000532775,;RCE1,upstream_gene_variant,,ENST00000530610,;RCE1,upstream_gene_variant,,ENST00000534822,;	T	ENST00000309657	Transcript	stop_gained	96/1485	52/990	18/329	E/*	Gag/Tag	rs111716594	1		1	RCE1	HGNC	HGNC:13721	protein_coding	YES	CCDS8151.1	ENSP00000309163	Q9Y256		UPI000012A4C6	NM_005133.2			1/8		hmmpanther:PTHR13046,hmmpanther:PTHR13046:SF1																	HIGH	1	SNV	1			1										PASS		rs111716594	.												T	4	4	84	66843507	66843507	G	T	1	0	0	0	0	0	1	0	0	13346	1175	41	2		2	RCE1	11	66843507	Nonsense_Mutation	SNP	G	C3N-01842_TP	218310	66843507	68243115	253	28107											
ARAP1	0	.	GRCh38	chr11	72712484	72712484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctcttcctcatccccttGgtcgtccccagacagttcct	5	13	5	18	1	2	1	1	0	1	1	8	1	7	1	7	1	0	1	7	1	0	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.832C>A	p.Gln278Lys	p.Q278K	ENST00000393609	6/35	123	99	24	133	133	0	strelka-varscan-mutect	ARAP1,missense_variant,p.Gln278Lys,ENST00000359373,;ARAP1,missense_variant,p.Gln278Lys,ENST00000393609,NM_001040118.2;ARAP1,missense_variant,p.Gln33Lys,ENST00000334211,NM_015242.4;ARAP1,missense_variant,p.Gln38Lys,ENST00000393605,;ARAP1,missense_variant,p.Gln33Lys,ENST00000426523,;ARAP1,missense_variant,p.Gln33Lys,ENST00000429686,NM_001135190.1;ARAP1,upstream_gene_variant,,ENST00000542264,;ARAP1,non_coding_transcript_exon_variant,,ENST00000465814,;RPS12P20,downstream_gene_variant,,ENST00000464109,;	T	ENST00000393609	Transcript	missense_variant	1035/5145	832/4353	278/1450	Q/K	Caa/Aaa		1		-1	ARAP1	HGNC	HGNC:16925	protein_coding	YES	CCDS41687.1	ENSP00000377233	Q96P48		UPI000053F81B	NM_001040118.2	tolerated(0.86)		6/35		Low_complexity_(Seg):seg,hmmpanther:PTHR23180:SF195,hmmpanther:PTHR23180																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	84	72712484	72712484	G	T	1	0	0	0	0	1	0	0	0	960	1357	47	2		2	ARAP1	11	72712484	Missense_Mutation	SNP	G	C3N-01842_TP	5868977	72712484	62374138	254	28108											
TRIM64B	0	.	GRCh38	chr11	89875943	89875943	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacagtcaatggtgacCggatctatgaagtagttcac	11	10	10	10	1	3	2	2	2	1	0	3	3	3	3	2	2	1	2	2	2	4	3			C3N-01842_TP	C3N-01842_NB	C	C																c.75G>T	p.=	p.P25P	ENST00000329862	1/6	397	344	53	417	417	0	varscan-mutect	TRIM64B,synonymous_variant,p.=,ENST00000329862,NM_001164397.1;	A	ENST00000329862	Transcript	synonymous_variant	75/2689	75/1350	25/449	P	ccG/ccT	COSM2222689	1		-1	TRIM64B	HGNC	HGNC:37147	protein_coding	YES	CCDS53693.1	ENSP00000332969	A6NI03		UPI0001662600	NM_001164397.1			1/6		Gene3D:3.30.40.10,Pfam_domain:PF00097,PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF354,SMART_domains:SM00184,Superfamily_domains:SSF57850											1						LOW	1	SNV	1		1	1										PASS		rs1192976298	.												A	2	1	84	89875943	89875943	C	A	1	0	0	0	0	0	0	0	1	17032	639	23	1		1	TRIM64B	11	89875943	Silent	SNP	C	C3N-01842_TP	17163459	89875943	45210679	255	28109											
TRIM49C	0	.	GRCh38	chr11	90041097	90041097	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaacagtgatatctttctGtatgaaattttgagaagcat	13	14	8	6	0	2	3	0	3	2	1	2	4	2	3	1	0	2	2	1	0	5	5	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.906G>T	p.=	p.L302L	ENST00000448984	8/8	278	219	59	260	259	1	strelka-varscan-mutect	TRIM49C,synonymous_variant,p.=,ENST00000448984,NM_001195234.1;	T	ENST00000448984	Transcript	synonymous_variant	1235/2163	906/1359	302/452	L	ctG/ctT		1		1	TRIM49C	HGNC	HGNC:38877	protein_coding	YES	CCDS53694.1	ENSP00000388299	P0CI26		UPI000013EA2B	NM_001195234.1			8/8		Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		rs1284704470	.												T	2	4	84	90041097	90041097	G	T	1	0	0	0	0	0	0	0	1	17016	1364	48	2		2	TRIM49C	11	90041097	Silent	SNP	G	C3N-01842_TP	165154	90041097	45045525	256	28110											
HEPHL1	0	.	GRCh38	chr11	94064423	94064423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagaatcaaagctggtacCtcaatgaaaatatcaaacat	19	9	6	7	0	3	2	3	2	0	1	3	3	3	2	1	1	3	2	1	1	8	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.721C>A	p.Leu241Ile	p.L241I	ENST00000315765	4/20	213	170	43	214	213	1	strelka-varscan-mutect	HEPHL1,missense_variant,p.Leu241Ile,ENST00000315765,NM_001098672.1;	A	ENST00000315765	Transcript	missense_variant	729/5345	721/3480	241/1159	L/I	Ctc/Atc		1		1	HEPHL1	HGNC	HGNC:30477	protein_coding	YES	CCDS44710.1	ENSP00000313699	Q6MZM0		UPI0000237563	NM_001098672.1	tolerated(0.12)		4/20		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF655,Gene3D:2.60.40.420,Superfamily_domains:SSF49503																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	84	94064423	94064423	C	A	1	0	0	0	0	1	0	0	0	6939	681	24	2		2	HEPHL1	11	94064423	Missense_Mutation	SNP	C	C3N-01842_TP	4023326	94064423	41022199	257	28111											
PGR	0	.	GRCh38	chr11	101128606	101128606	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaacacccgctgggtggcGggggcagccggtggatcttc	6	6	17	12	3	1	0	0	0	1	0	2	2	1	1	2	6	2	2	2	6	1	1			C3N-01842_TP	C3N-01842_NB	G	G																c.465C>G	p.=	p.P155P	ENST00000325455	1/8	235	196	39	287	287	0	strelka-varscan-mutect	PGR,synonymous_variant,p.=,ENST00000325455,NM_000926.4,NM_001202474.3;PGR,synonymous_variant,p.=,ENST00000619228,;PGR,synonymous_variant,p.=,ENST00000617858,;PGR,synonymous_variant,p.=,ENST00000263463,NM_001271161.2;PGR,intron_variant,,ENST00000534013,NM_001271162.1;PGR,upstream_gene_variant,,ENST00000632634,;RP11-788M5.4,upstream_gene_variant,,ENST00000632820,;PGR,synonymous_variant,p.=,ENST00000534780,;PGR,synonymous_variant,p.=,ENST00000528960,;PGR,synonymous_variant,p.=,ENST00000526300,;	C	ENST00000325455	Transcript	synonymous_variant	1919/13748	465/2802	155/933	P	ccC/ccG	COSM84108	1		-1	PGR	HGNC	HGNC:8910	protein_coding	YES	CCDS8310.1	ENSP00000325120	P06401		UPI0000046E22	NM_000926.4,NM_001202474.3			1/8		Low_complexity_(Seg):seg,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF7,Pfam_domain:PF02161											1						LOW	1	SNV	1		1	1										PASS		rs1288681934	.												C	2	2	84	101128606	101128606	G	C	1	0	0	0	0	0	0	0	1	11894	1103	39	4		4	PGR	11	101128606	Silent	SNP	G	C3N-01842_TP	7064183	101128606	33958016	258	28112											
APOA1	0	.	GRCh38	chr11	116836012	116836012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgagagcctcaaggcgCgcggccaagcgctggcgcag	7	5	15	14	5	1	1	1	1	0	1	2	2	2	1	3	3	2	2	3	3	2	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.600G>A	p.=	p.A200A	ENST00000236850	4/4	310	238	72	368	368	0	strelka-varscan-mutect	APOA1,synonymous_variant,p.=,ENST00000236850,NM_000039.1;APOA1,synonymous_variant,p.=,ENST00000375323,;APOA1,synonymous_variant,p.=,ENST00000375320,NM_001318017.1;APOA1,synonymous_variant,p.=,ENST00000359492,NM_001318018.1;APOA1,synonymous_variant,p.=,ENST00000375329,;APOC3,downstream_gene_variant,,ENST00000375345,;APOC3,downstream_gene_variant,,ENST00000227667,NM_000040.1;APOC3,downstream_gene_variant,,ENST00000630701,;APOA1-AS,upstream_gene_variant,,ENST00000444200,;APOC3,downstream_gene_variant,,ENST00000470144,;	T	ENST00000236850	Transcript	synonymous_variant	966/1227	600/804	200/267	A	gcG/gcA		1		-1	APOA1	HGNC	HGNC:600	protein_coding	YES	CCDS8378.1	ENSP00000236850	P02647	A0A024R3E3	UPI000002C911	NM_000039.1			4/4		Superfamily_domains:0053393,Gene3D:1gw3A00,Pfam_domain:PF01442,hmmpanther:PTHR18976,hmmpanther:PTHR18976:SF11,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	84	116836012	116836012	C	T	1	0	0	0	0	0	0	0	1	903	755	27	1		1	APOA1	11	116836012	Silent	SNP	C	C3N-01842_TP	15707406	116836012	18250610	259	28113											
HYOU1	0	.	GRCh38	chr11	119055835	119055835	+	Missense_Mutation	SNP	C	C	A																															caggtccacagacatcactgCcagtgtatctgaagggaaaa																								rs782628863		C3N-01842_TP	C3N-01842_NB	C	C																c.100G>T	p.Ala34Ser	p.A34S	ENST00000617285	3/26	272	222	50	283	283	0	strelka-varscan-mutect	HYOU1,missense_variant,p.Ala34Ser,ENST00000617285,NM_001130991.2,NM_006389.4;HYOU1,missense_variant,p.Ala34Ser,ENST00000612687,;HYOU1,missense_variant,p.Ala34Ser,ENST00000621959,;HYOU1,missense_variant,p.Ala34Ser,ENST00000614711,;HYOU1,missense_variant,p.Ala34Ser,ENST00000532519,;HYOU1,missense_variant,p.Ala34Ser,ENST00000530473,;HYOU1,missense_variant,p.Ala34Ser,ENST00000614668,;HYOU1,missense_variant,p.Ala34Ser,ENST00000526656,;HYOU1,missense_variant,p.Ala34Ser,ENST00000534233,;HYOU1,missense_variant,p.Ala34Ser,ENST00000527038,;HYOU1,missense_variant,p.Ala34Ser,ENST00000532421,;HYOU1,missense_variant,p.Ala34Ser,ENST00000530467,;HYOU1,missense_variant,p.Ala34Ser,ENST00000610597,;HYOU1,non_coding_transcript_exon_variant,,ENST00000533381,;HYOU1,non_coding_transcript_exon_variant,,ENST00000526354,;HYOU1,non_coding_transcript_exon_variant,,ENST00000529174,;HYOU1,non_coding_transcript_exon_variant,,ENST00000622474,;HYOU1,intron_variant,,ENST00000543287,;HYOU1,intron_variant,,ENST00000531968,;HYOU1,upstream_gene_variant,,ENST00000531694,;	A	ENST00000617285	Transcript	missense_variant	225/4529	100/3000	34/999	A/S	Gca/Tca	rs782628863	1		-1	HYOU1	HGNC	HGNC:16931	protein_coding	YES	CCDS8408.1	ENSP00000480150	Q9Y4L1		UPI0000130F72	NM_001130991.2,NM_006389.4	tolerated(0.05)		3/26		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF90,Prints_domain:PR00301																	MODERATE	1	SNV	1			1										PASS		rs782628863	.												A	3	1	84	119055835	119055835	C	A	1	0	0	0	0	1	0	0	0	7367	739	26	2		2	HYOU1	11	119055835	Missense_Mutation	SNP	C	C3N-01842_TP	2219823	119055835	16030787	260	28114	591	2									
HYOU1	0	.	GRCh38	chr11	119055836	119055836	+	Silent	SNP	C	C	A																															aggtccacagacatcactgcCagtgtatctgaagggaaaag																								novel		C3N-01842_TP	C3N-01842_NB	C	C																c.99G>T	p.=	p.L33L	ENST00000617285	3/26	269	218	51	277	277	0	strelka-varscan-mutect	HYOU1,synonymous_variant,p.=,ENST00000617285,NM_001130991.2,NM_006389.4;HYOU1,synonymous_variant,p.=,ENST00000612687,;HYOU1,synonymous_variant,p.=,ENST00000621959,;HYOU1,synonymous_variant,p.=,ENST00000614711,;HYOU1,synonymous_variant,p.=,ENST00000532519,;HYOU1,synonymous_variant,p.=,ENST00000530473,;HYOU1,synonymous_variant,p.=,ENST00000614668,;HYOU1,synonymous_variant,p.=,ENST00000526656,;HYOU1,synonymous_variant,p.=,ENST00000534233,;HYOU1,synonymous_variant,p.=,ENST00000527038,;HYOU1,synonymous_variant,p.=,ENST00000532421,;HYOU1,synonymous_variant,p.=,ENST00000530467,;HYOU1,synonymous_variant,p.=,ENST00000610597,;HYOU1,non_coding_transcript_exon_variant,,ENST00000533381,;HYOU1,non_coding_transcript_exon_variant,,ENST00000526354,;HYOU1,non_coding_transcript_exon_variant,,ENST00000529174,;HYOU1,non_coding_transcript_exon_variant,,ENST00000622474,;HYOU1,intron_variant,,ENST00000543287,;HYOU1,intron_variant,,ENST00000531968,;HYOU1,upstream_gene_variant,,ENST00000531694,;	A	ENST00000617285	Transcript	synonymous_variant	224/4529	99/3000	33/999	L	ctG/ctT		1		-1	HYOU1	HGNC	HGNC:16931	protein_coding	YES	CCDS8408.1	ENSP00000480150	Q9Y4L1		UPI0000130F72	NM_001130991.2,NM_006389.4			3/26		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF90																	LOW	1	SNV	1			1										PASS		rs1203118127	.												A	2	1	84	119055836	119055836	C	A	1	0	0	0	0	0	0	0	1	7367	581	21	2		2	HYOU1	11	119055836	Silent	SNP	C	C3N-01842_TP	1	119055836	16030786	261	28115	591	2									
C2CD2L	0	.	GRCh38	chr11	119113860	119113860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacccctagcaggggacAgccacctttccaacggcttg	8	7	10	16	1	0	0	0	0	0	0	1	1	1	1	5	3	4	3	5	3	2	3	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.1498A>G	p.Ser500Gly	p.S500G	ENST00000336702	12/14	207	163	44	211	211	0	strelka-varscan-mutect	C2CD2L,missense_variant,p.Ser500Gly,ENST00000336702,NM_014807.4,NM_001290474.1;C2CD2L,missense_variant,p.Ser247Gly,ENST00000528586,;C2CD2L,non_coding_transcript_exon_variant,,ENST00000525598,;C2CD2L,non_coding_transcript_exon_variant,,ENST00000529874,;C2CD2L,downstream_gene_variant,,ENST00000533458,;	G	ENST00000336702	Transcript	missense_variant	1857/4771	1498/2124	500/707	S/G	Agc/Ggc		1		1	C2CD2L	HGNC	HGNC:29000	protein_coding	YES	CCDS8413.1	ENSP00000338885	O14523		UPI0000192105	NM_014807.4,NM_001290474.1	tolerated(0.23)		12/14		hmmpanther:PTHR21119,hmmpanther:PTHR21119:SF8,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	119113860	119113860	A	G	1	0	0	0	0	1	0	0	0	2025	202	7	5		5	C2CD2L	11	119113860	Missense_Mutation	SNP	A	C3N-01842_TP	58024	119113860	15972762	262	28116											
OR8D4	0	.	GRCh38	chr11	123906602	123906602	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaatcgtcaacttcatacCcccatgtactatttcctgag	10	13	5	13	1	2	2	2	2	0	0	4	2	3	2	3	0	3	1	3	0	5	5	rs79929702		C3N-01842_TP	C3N-01842_NB	C	C																c.171C>G	p.=	p.T57T	ENST00000321355	1/1	243	185	58	241	241	0	strelka-varscan-mutect	OR8D4,synonymous_variant,p.=,ENST00000321355,NM_001005197.1;	G	ENST00000321355	Transcript	synonymous_variant	457/1331	171/945	57/314	T	acC/acG	rs79929702	1		1	OR8D4	HGNC	HGNC:14840	protein_coding	YES	CCDS31698.1	ENSP00000325381	Q8NGM9		UPI0000040A83	NM_001005197.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF21,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs79929702	.												G	2	3	84	123906602	123906602	C	G	1	0	0	0	0	0	0	0	1	11302	610	22	4		4	OR8D4	11	123906602	Silent	SNP	C	C3N-01842_TP	4792742	123906602	11180020	263	28117											
FEZ1	0	.	GRCh38	chr11	125455967	125455967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaataagcaccgtgataaaGgagttcttcacttccttctc	11	13	6	11	1	4	1	2	1	2	0	6	2	5	2	2	1	1	2	2	1	4	6	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.807C>T	p.=	p.S269S	ENST00000278919	6/10	186	144	42	252	252	0	strelka-varscan-mutect	FEZ1,synonymous_variant,p.=,ENST00000278919,NM_005103.4;FEZ1,synonymous_variant,p.=,ENST00000577924,;FEZ1,non_coding_transcript_exon_variant,,ENST00000527350,;FEZ1,upstream_gene_variant,,ENST00000526507,;FEZ1,upstream_gene_variant,,ENST00000532778,;FEZ1,non_coding_transcript_exon_variant,,ENST00000392709,;FEZ1,non_coding_transcript_exon_variant,,ENST00000524427,;FEZ1,upstream_gene_variant,,ENST00000530096,;FEZ1,downstream_gene_variant,,ENST00000533294,;FEZ1,downstream_gene_variant,,ENST00000534022,;FEZ1,upstream_gene_variant,,ENST00000528863,;	A	ENST00000278919	Transcript	synonymous_variant	1042/1748	807/1179	269/392	S	tcC/tcT		1		-1	FEZ1	HGNC	HGNC:3659	protein_coding	YES	CCDS31716.1	ENSP00000278919	Q99689		UPI000012A6FE	NM_005103.4			6/10		hmmpanther:PTHR12394:SF4,hmmpanther:PTHR12394,Pfam_domain:PF07763																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	125455967	125455967	G	A	1	0	0	0	0	0	0	0	1	5686	987	35	3		3	FEZ1	11	125455967	Silent	SNP	G	C3N-01842_TP	1549365	125455967	9630655	264	28118											
USP5	0	.	GRCh38	chr12	6860222	6860222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcgggcgatggggagcGggtgccagaacagaaggtgc	9	4	21	7	3	0	2	0	0	0	2	1	5	0	4	1	6	4	0	1	6	2	0	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1202G>T	p.Arg401Leu	p.R401L	ENST00000229268	10/20	140	100	40	180	179	1	strelka-varscan-mutect	USP5,missense_variant,p.Arg401Leu,ENST00000229268,NM_001098536.1;USP5,missense_variant,p.Arg401Leu,ENST00000389231,NM_003481.2;USP5,intron_variant,,ENST00000542087,;USP5,upstream_gene_variant,,ENST00000541969,;USP5,non_coding_transcript_exon_variant,,ENST00000537267,;USP5,upstream_gene_variant,,ENST00000542371,;USP5,downstream_gene_variant,,ENST00000535080,;	T	ENST00000229268	Transcript	missense_variant	1254/3181	1202/2577	401/858	R/L	cGg/cTg		1		1	USP5	HGNC	HGNC:12628	protein_coding	YES	CCDS41743.1	ENSP00000229268	P45974	A0A140VJZ1	UPI00001379E1	NM_001098536.1	tolerated(0.2)		10/20		PROSITE_profiles:PS50235,PIRSF_domain:PIRSF016308,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	6860222	6860222	G	T	1	0	0	0	0	1	0	0	0	17624	1116	39	1		1	USP5	12	6860222	Missense_Mutation	SNP	G	C3N-01842_TP		6860222	126415087	265	28119											
SLC2A14	0	.	GRCh38	chr12	7821254	7821254	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatagtattaaccacaccCgcgctgatggtggcatagat	13	9	10	9	2	0	3	0	1	0	2	0	3	0	3	2	2	1	3	2	2	5	4	rs745710037		C3N-01842_TP	C3N-01842_NB	C	C																c.1050G>T	p.=	p.A350A	ENST00000539924	7/10	266	201	65	300	300	0	strelka-varscan-mutect	SLC2A14,synonymous_variant,p.=,ENST00000543909,NM_001286233.1;SLC2A14,synonymous_variant,p.=,ENST00000340749,NM_001286235.1;SLC2A14,synonymous_variant,p.=,ENST00000431042,NM_001286234.1;SLC2A14,synonymous_variant,p.=,ENST00000616981,;SLC2A14,synonymous_variant,p.=,ENST00000542546,;SLC2A14,synonymous_variant,p.=,ENST00000396589,NM_153449.3;SLC2A14,synonymous_variant,p.=,ENST00000539924,NM_001286237.1;SLC2A14,synonymous_variant,p.=,ENST00000535295,NM_001286236.1;SLC2A14,5_prime_UTR_variant,,ENST00000542505,;	A	ENST00000539924	Transcript	synonymous_variant	1071/1873	1050/1608	350/535	A	gcG/gcT	rs745710037	1		-1	SLC2A14	HGNC	HGNC:18301	protein_coding	YES	CCDS66302.1	ENSP00000445929	Q8TDB8		UPI0001915325	NM_001286237.1			7/10		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR23503,hmmpanther:PTHR23503:SF23,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		rs745710037	.												A	2	1	84	7821254	7821254	C	A	1	0	0	0	0	0	0	0	1	14813	639	23	1		1	SLC2A14	12	7821254	Silent	SNP	C	C3N-01842_TP	961032	7821254	125454055	266	28120											
CREBL2	0	.	GRCh38	chr12	12635969	12635969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgccctcagagaggaactgGaaatggtaagaaatcgtcag	14	7	13	7	1	2	2	2	0	0	2	3	5	2	4	1	3	2	1	1	3	4	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.208G>C	p.Glu70Gln	p.E70Q	ENST00000228865	2/4	252	198	54	295	295	0	strelka-varscan-mutect	CREBL2,missense_variant,p.Glu70Gln,ENST00000228865,NM_001310.3;CREBL2,non_coding_transcript_exon_variant,,ENST00000540224,;	C	ENST00000228865	Transcript	missense_variant	489/3754	208/363	70/120	E/Q	Gaa/Caa		1		1	CREBL2	HGNC	HGNC:2350	protein_coding	YES	CCDS8651.1	ENSP00000228865	O60519		UPI0000070749	NM_001310.3	deleterious(0.04)		2/4		Gene3D:1.20.5.170,Pfam_domain:PF07716,hmmpanther:PTHR21051,hmmpanther:PTHR21051:SF4,Superfamily_domains:SSF57959																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	84	12635969	12635969	G	C	1	0	0	0	0	1	0	0	0	3662	1188	41	4		4	CREBL2	12	12635969	Missense_Mutation	SNP	G	C3N-01842_TP	4814715	12635969	120639340	267	28121											
OVOS2	0	.	GRCh38	chr12	31150207	31150207	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaattctgtaacaattacAgcgacatgaaatgtcatgaa	17	10	6	8	1	2	2	1	2	1	0	2	3	2	2	1	0	3	1	1	0	6	3	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.900T>C	p.=	p.A300A	ENST00000632817	8/34	302	244	58	318	318	0	strelka-varscan-mutect	OVOS2,synonymous_variant,p.=,ENST00000398963,;OVOS2,synonymous_variant,p.=,ENST00000632817,;	G	ENST00000632817	Transcript	synonymous_variant	900/4299	900/4299	300/1432	A	gcT/gcC		1		-1	OVOS2	Clone_based_vega_gene		protein_coding	YES		ENSP00000487815		A0A0J9YW53	UPI0001AE6AF7				8/34		hmmpanther:PTHR11412:SF77,hmmpanther:PTHR11412																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	84	31150207	31150207	A	G	1	0	0	0	0	0	0	0	1	11399	175	7	5		5	OVOS2	12	31150207	Silent	SNP	A	C3N-01842_TP	18514238	31150207	102125102	268	28122											
BICD1	0	.	GRCh38	chr12	32327667	32327667	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcaggggaggaggcccaTgactatgaggtggacatcaa	12	6	15	8	0	2	2	2	2	0	0	2	6	2	5	1	6	0	0	1	6	2	1	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.1212T>A	p.His404Gln	p.H404Q	ENST00000281474	5/10	172	132	40	202	202	0	strelka-varscan-mutect	BICD1,missense_variant,p.His404Gln,ENST00000548411,NM_001003398.1;BICD1,missense_variant,p.His404Gln,ENST00000281474,NM_001714.2;BICD1,upstream_gene_variant,,ENST00000547680,;BICD1,missense_variant,p.His404Gln,ENST00000395758,;	A	ENST00000281474	Transcript	missense_variant	1315/3281	1212/2928	404/975	H/Q	caT/caA		1		1	BICD1	HGNC	HGNC:1049	protein_coding	YES	CCDS8726.1	ENSP00000281474	Q96G01		UPI00001AEA67	NM_001714.2	tolerated(0.4)		5/10		hmmpanther:PTHR31233,hmmpanther:PTHR31233:SF3,Pfam_domain:PF09730																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	32327667	32327667	T	A	1	0	0	0	0	1	0	0	0	1577	1461	51	4		4	BICD1	12	32327667	Missense_Mutation	SNP	T	C3N-01842_TP	1177460	32327667	100947642	269	28123											
ADAMTS20	0	.	GRCh38	chr12	43551036	43551036	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcgctccggggttcccAagtgcacctcggtgtagccg	4	7	13	17	5	0	0	0	0	0	0	3	0	2	0	6	3	2	4	6	3	2	2	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.326T>A	p.Leu109Ter	p.L109*	ENST00000389420	2/39	216	161	55	246	244	2	strelka-varscan-mutect	ADAMTS20,stop_gained,p.Leu109Ter,ENST00000389420,NM_025003.3;ADAMTS20,stop_gained,p.Leu109Ter,ENST00000395541,;ADAMTS20,stop_gained,p.Leu109Ter,ENST00000553158,;	T	ENST00000389420	Transcript	stop_gained	326/6076	326/5733	109/1910	L/*	tTg/tAg		1		-1	ADAMTS20	HGNC	HGNC:17178	protein_coding	YES	CCDS31778.2	ENSP00000374071	P59510		UPI00004565F4	NM_025003.3			2/39		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF01562																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	84	43551036	43551036	A	T	1	0	0	0	0	0	1	0	0	310	131	5	4		4	ADAMTS20	12	43551036	Nonsense_Mutation	SNP	A	C3N-01842_TP	11223369	43551036	89724273	270	28124											
BBS10	0	.	GRCh38	chr12	76345965	76345965	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattccaaacctgtctgacTgcttaccaagggttgattgg	9	13	10	9	0	1	3	0	3	1	0	2	3	2	3	3	2	3	2	3	2	3	4	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.2020A>T	p.Ser674Cys	p.S674C	ENST00000393262	2/2	333	244	89	256	256	0	strelka-varscan-mutect	BBS10,missense_variant,p.Ser674Cys,ENST00000393262,NM_024685.3;	A	ENST00000393262	Transcript	missense_variant	2104/3595	2020/2172	674/723	S/C	Agt/Tgt		1		-1	BBS10	HGNC	HGNC:26291	protein_coding	YES	CCDS9014.2	ENSP00000376946	Q8TAM1		UPI0000D720FE	NM_024685.3	tolerated(0.09)		2/2		hmmpanther:PTHR14667,Gene3D:1.10.560.10,Superfamily_domains:SSF48592																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	76345965	76345965	T	A	1	0	0	0	0	1	0	0	0	1483	1580	55	4		4	BBS10	12	76345965	Missense_Mutation	SNP	T	C3N-01842_TP	32794929	76345965	56929344	271	28125											
OTOGL	0	.	GRCh38	chr12	80267297	80267297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcagtgtttatcaacctgGagagctcatccccacaccct	9	9	9	14	0	2	1	2	0	0	1	3	2	3	1	4	2	2	3	4	2	2	2	rs766524140		C3N-01842_TP	C3N-01842_NB	G	G																c.2408G>T	p.Gly803Val	p.G803V	ENST00000458043	21/58	231	193	38	253	253	0	strelka-varscan-mutect	OTOGL,missense_variant,p.Gly803Val,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Gly803Val,ENST00000547103,;	T	ENST00000458043	Transcript	missense_variant	2414/8083	2408/7035	803/2344	G/V	gGa/gTa	rs766524140	1		1	OTOGL	HGNC	HGNC:26901	protein_coding	YES		ENSP00000400895		A0A0A0MSS2	UPI0001D089C5	NM_173591.3	deleterious(0)		21/58		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF225,Gene3D:2.10.25.10,SMART_domains:SM00215																	MODERATE	1	SNV	5			1										PASS		rs766524140	.												T	3	4	84	80267297	80267297	G	T	1	0	0	0	0	1	0	0	0	11371	1174	41	2		2	OTOGL	12	80267297	Missense_Mutation	SNP	G	C3N-01842_TP	3921332	80267297	53008012	272	28126											
PTPRQ	0	.	GRCh38	chr12	80546622	80546622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcagcacctactctatcCgtgtatctgcgttcaccaaa	10	11	6	14	2	4	0	2	0	2	0	5	0	5	0	3	0	3	3	3	0	4	4	rs774879303		C3N-01842_TP	C3N-01842_NB	C	C																c.3940C>A	p.Arg1314Ser	p.R1314S	ENST00000614701	24/45	374	297	77	342	342	0	strelka-varscan-mutect	PTPRQ,missense_variant,p.Arg1314Ser,ENST00000614701,NM_001145026.1;PTPRQ,missense_variant,p.Arg1356Ser,ENST00000616559,;PTPRQ,non_coding_transcript_exon_variant,,ENST00000551624,;	A	ENST00000614701	Transcript	missense_variant	4118/8289	3940/6900	1314/2299	R/S	Cgt/Agt	rs774879303	1		1	PTPRQ	HGNC	HGNC:9679	protein_coding	YES	CCDS73501.1	ENSP00000482885		A0A087WZU1	UPI000192953C	NM_001145026.1	tolerated(1)		24/45		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF414,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		rs774879303	.												A	3	1	84	80546622	80546622	C	A	1	0	0	0	0	1	0	0	0	12964	652	23	1		1	PTPRQ	12	80546622	Missense_Mutation	SNP	C	C3N-01842_TP	279325	80546622	52728687	273	28127											
LRRIQ1	0	.	GRCh38	chr12	85047363	85047363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagaaacaaactctcaaaGctcagagggatagagaagaa	21	4	10	6	0	2	4	2	0	1	4	3	7	2	5	0	1	3	1	0	1	7	1	rs774392243		C3N-01842_TP	C3N-01842_NB	G	G																c.571G>T	p.Ala191Ser	p.A191S	ENST00000393217	6/27	471	405	66	286	284	2	strelka-varscan-mutect	LRRIQ1,missense_variant,p.Ala191Ser,ENST00000393217,NM_001079910.1;LRRIQ1,missense_variant,p.Ala89Ser,ENST00000533414,;LRRIQ1,downstream_gene_variant,,ENST00000393212,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000529408,;	T	ENST00000393217	Transcript	missense_variant	632/5394	571/5169	191/1722	A/S	Gct/Tct	rs774392243	1		1	LRRIQ1	HGNC	HGNC:25708	protein_coding	YES	CCDS41816.1	ENSP00000376910	Q96JM4	A0A140VJN5	UPI0000ED4E82	NM_001079910.1	deleterious(0)		6/27		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	5			1										PASS		rs774392243	.												T	3	4	84	85047363	85047363	G	T	1	0	0	0	0	1	0	0	0	8935	971	34	2		2	LRRIQ1	12	85047363	Missense_Mutation	SNP	G	C3N-01842_TP	4500741	85047363	48227946	274	28128											
SSH1	0	.	GRCh38	chr12	108788192	108788192	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagaaggtgagactcccCagcttggcaagagagtgtga	11	8	15	7	0	0	4	0	3	0	3	1	7	1	4	2	2	1	3	2	2	2	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.2946G>C	p.=	p.L982L	ENST00000326495	15/15	361	300	61	417	417	0	strelka-varscan-mutect	SSH1,synonymous_variant,p.=,ENST00000326495,NM_018984.3;SSH1,downstream_gene_variant,,ENST00000326470,NM_001161331.1;SSH1,downstream_gene_variant,,ENST00000551165,NM_001161330.1;SSH1,3_prime_UTR_variant,,ENST00000546433,;	G	ENST00000326495	Transcript	synonymous_variant	3040/13040	2946/3150	982/1049	L	ctG/ctC		1		-1	SSH1	HGNC	HGNC:30579	protein_coding	YES	CCDS9121.1	ENSP00000315713	Q8WYL5		UPI000003E894	NM_018984.3			15/15																			LOW	1	SNV	1			1										PASS		rs1297219380	.												G	2	3	84	108788192	108788192	C	G	1	0	0	0	0	0	0	0	1	15560	581	21	4		4	SSH1	12	108788192	Silent	SNP	C	C3N-01842_TP	23740829	108788192	24487117	275	28129											
ACACB	0	.	GRCh38	chr12	109209299	109209299	+	Missense_Mutation	SNP	G	G	A																															aagtctgtccgcagggtgatGgcccagtatgccagcaacat																								novel		C3N-01842_TP	C3N-01842_NB	G	G																c.3195G>A	p.Met1065Ile	p.M1065I	ENST00000338432	21/53	152	126	26	215	215	0	strelka-varscan-mutect	ACACB,missense_variant,p.Met1065Ile,ENST00000338432,;ACACB,missense_variant,p.Met1065Ile,ENST00000377848,NM_001093.3;ACACB,5_prime_UTR_variant,,ENST00000377854,;	A	ENST00000338432	Transcript	missense_variant	3314/9360	3195/7377	1065/2458	M/I	atG/atA		1		1	ACACB	HGNC	HGNC:85	protein_coding	YES	CCDS31898.1	ENSP00000341044	O00763		UPI0000DBEEFB		tolerated(0.24)		21/53		Pfam_domain:PF08326																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	109209299	109209299	G	A	1	0	0	0	0	1	0	0	0	150	1348	47	3		3	ACACB	12	109209299	Missense_Mutation	SNP	G	C3N-01842_TP	421107	109209299	24066010	276	28130	592	2									
ACACB	0	.	GRCh38	chr12	109209300	109209300	+	Missense_Mutation	SNP	G	G	T																															agtctgtccgcagggtgatgGcccagtatgccagcaacatc																								novel		C3N-01842_TP	C3N-01842_NB	G	G																c.3196G>T	p.Ala1066Ser	p.A1066S	ENST00000338432	21/53	149	123	26	210	210	0	strelka-varscan-mutect	ACACB,missense_variant,p.Ala1066Ser,ENST00000338432,;ACACB,missense_variant,p.Ala1066Ser,ENST00000377848,NM_001093.3;ACACB,5_prime_UTR_variant,,ENST00000377854,;	T	ENST00000338432	Transcript	missense_variant	3315/9360	3196/7377	1066/2458	A/S	Gcc/Tcc		1		1	ACACB	HGNC	HGNC:85	protein_coding	YES	CCDS31898.1	ENSP00000341044	O00763		UPI0000DBEEFB		tolerated(0.3)		21/53		Pfam_domain:PF08326																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	109209300	109209300	G	T	1	0	0	0	0	1	0	0	0	150	1203	42	2		2	ACACB	12	109209300	Missense_Mutation	SNP	G	C3N-01842_TP	1	109209300	24066009	277	28131	592	2									
ACACB	0	.	GRCh38	chr12	109265127	109265127	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggacatcctggagtggaaGaccgcacgcaccttcctgta	10	7	11	13	2	0	1	0	0	0	1	2	4	2	4	4	3	0	3	4	3	2	2	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.6960G>C	p.Lys2320Asn	p.K2320N	ENST00000338432	51/53	95	72	23	122	122	0	strelka-varscan-mutect	ACACB,missense_variant,p.Lys2320Asn,ENST00000338432,;ACACB,missense_variant,p.Lys2320Asn,ENST00000377848,NM_001093.3;ACACB,downstream_gene_variant,,ENST00000377854,;ACACB,3_prime_UTR_variant,,ENST00000538526,;ACACB,non_coding_transcript_exon_variant,,ENST00000537279,;	C	ENST00000338432	Transcript	missense_variant	7079/9360	6960/7377	2320/2458	K/N	aaG/aaC		1		1	ACACB	HGNC	HGNC:85	protein_coding	YES	CCDS31898.1	ENSP00000341044	O00763		UPI0000DBEEFB		deleterious(0.02)		51/53		hmmpanther:PTHR18866:SF94,hmmpanther:PTHR18866,Pfam_domain:PF01039,Gene3D:3.90.226.10,Superfamily_domains:SSF52096																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	84	109265127	109265127	G	C	1	0	0	0	0	1	0	0	0	150	933	33	4		4	ACACB	12	109265127	Missense_Mutation	SNP	G	C3N-01842_TP	55827	109265127	24010182	278	28132											
MYO1H	0	.	GRCh38	chr12	109401269	109401269	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtataaatacctctcAcaggtgggaaggaccagcac	13	7	10	11	0	1	0	1	0	1	0	2	2	1	2	2	3	3	3	2	3	5	3	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.699A>T	p.=	p.S233S	ENST00000431443	5/31	148	133	15	102	101	1	strelka-varscan-mutect	MYO1H,synonymous_variant,p.=,ENST00000310903,;MYO1H,synonymous_variant,p.=,ENST00000431443,NM_001101421.3;MYO1H,upstream_gene_variant,,ENST00000542883,;	T	ENST00000431443	Transcript	synonymous_variant	699/4258	699/3069	233/1022	S	tcA/tcT		1		1	MYO1H	HGNC	HGNC:13879	protein_coding	YES	CCDS53826.1	ENSP00000444076	Q8N1T3		UPI0001AFF951	NM_001101421.3			5/31		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF353,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	84	109401269	109401269	A	T	1	0	0	0	0	0	0	0	1	10076	173	6	4		4	MYO1H	12	109401269	Silent	SNP	A	C3N-01842_TP	136142	109401269	23874040	279	28133											
LHX5	0	.	GRCh38	chr12	113468305	113468305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgttctcgttgttggccGtctccttgtccgacgaggtc	2	14	11	14	5	2	0	0	0	2	0	7	2	3	0	4	2	0	3	4	2	0	4	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.497C>A	p.Thr166Lys	p.T166K	ENST00000261731	3/5	247	193	54	317	315	2	strelka-varscan-mutect	LHX5,missense_variant,p.Thr166Lys,ENST00000261731,NM_022363.2;LHX5-AS1,upstream_gene_variant,,ENST00000551357,;LHX5,downstream_gene_variant,,ENST00000557836,;	T	ENST00000261731	Transcript	missense_variant	1071/2939	497/1209	166/402	T/K	aCg/aAg		1		-1	LHX5	HGNC	HGNC:14216	protein_coding	YES	CCDS9171.1	ENSP00000261731	Q9H2C1		UPI000012E662	NM_022363.2	tolerated(0.09)		3/5		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF115,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		rs1285111455	.												T	3	4	84	113468305	113468305	G	T	1	0	0	0	0	1	0	0	0	8683	1145	40	1		1	LHX5	12	113468305	Missense_Mutation	SNP	G	C3N-01842_TP	4067036	113468305	19807004	280	28134											
GCN1	0	.	GRCh38	chr12	120142642	120142642	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacgcctgccgcaccacCagctgggtgtctgagcggcc	6	5	15	15	3	1	1	0	1	1	0	1	2	1	2	5	3	3	2	5	3	0	0	rs369342369		C3N-01842_TP	C3N-01842_NB	C	C																c.5694G>T	p.=	p.L1898L	ENST00000300648	44/58	384	308	76	417	417	0	strelka-varscan-mutect	GCN1,synonymous_variant,p.=,ENST00000300648,NM_006836.1;GCN1,upstream_gene_variant,,ENST00000547263,;	A	ENST00000300648	Transcript	synonymous_variant	5707/8675	5694/8016	1898/2671	L	ctG/ctT	rs369342369	1		-1	GCN1	HGNC	HGNC:4199	protein_coding	YES	CCDS41847.1	ENSP00000300648	Q92616		UPI0000451CA7	NM_006836.1			44/58		Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		rs369342369	.												A	2	1	84	120142642	120142642	C	A	1	0	0	0	0	0	0	0	1	6169	581	21	2		2	GCN1	12	120142642	Silent	SNP	C	C3N-01842_TP	6674337	120142642	13132667	281	28135											
GCN1	0	.	GRCh38	chr12	120161976	120161976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcagtgcagggttctgcacgGaggcagtgatggtgctgatg	7	9	18	7	1	1	2	0	2	1	0	1	3	1	3	0	4	3	6	0	4	0	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.2246C>T	p.Ser749Phe	p.S749F	ENST00000300648	21/58	371	301	70	523	523	0	strelka-varscan-mutect	GCN1,missense_variant,p.Ser749Phe,ENST00000300648,NM_006836.1;GCN1,non_coding_transcript_exon_variant,,ENST00000550471,;GCN1,upstream_gene_variant,,ENST00000547369,;GCN1,upstream_gene_variant,,ENST00000551920,;GCN1,downstream_gene_variant,,ENST00000551549,;	A	ENST00000300648	Transcript	missense_variant	2259/8675	2246/8016	749/2671	S/F	tCc/tTc		1		-1	GCN1	HGNC	HGNC:4199	protein_coding	YES	CCDS41847.1	ENSP00000300648	Q92616		UPI0000451CA7	NM_006836.1	tolerated(0.7)		21/58		Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	120161976	120161976	G	A	1	0	0	0	0	1	0	0	0	6169	1174	41	3		3	GCN1	12	120161976	Missense_Mutation	SNP	G	C3N-01842_TP	19334	120161976	13113333	282	28136											
FZD10	0	.	GRCh38	chr12	130164551	130164551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcagcaggtgtgcagcCgtaggttaaagaagaagagc	12	6	15	8	1	0	3	0	0	0	3	0	3	0	3	2	3	4	5	2	3	5	2	rs147350994		C3N-01842_TP	C3N-01842_NB	C	C																c.1609C>G	p.Arg537Gly	p.R537G	ENST00000229030	1/1	207	165	42	285	285	0	strelka-varscan-mutect	FZD10,missense_variant,p.Arg537Gly,ENST00000229030,NM_007197.3;FZD10,3_prime_UTR_variant,,ENST00000539839,;FZD10-AS1,upstream_gene_variant,,ENST00000505807,;FZD10-AS1,upstream_gene_variant,,ENST00000509760,;FZD10-AS1,upstream_gene_variant,,ENST00000537095,;FZD10-AS1,upstream_gene_variant,,ENST00000542000,;	G	ENST00000229030	Transcript	missense_variant	2093/3281	1609/1746	537/581	R/G	Cgt/Ggt	rs147350994	1		1	FZD10	HGNC	HGNC:4039	protein_coding	YES	CCDS9267.1	ENSP00000229030	Q9ULW2		UPI000004EC92	NM_007197.3	deleterious(0.01)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309,Pfam_domain:PF01534,SMART_domains:SM01330																	MODERATE		SNV				1										PASS		rs147350994	.												G	3	3	84	130164551	130164551	C	G	1	0	0	0	0	1	0	0	0	6000	652	23	4		4	FZD10	12	130164551	Missense_Mutation	SNP	C	C3N-01842_TP	10002575	130164551	3110758	283	28137											
RIMBP2	0	.	GRCh38	chr12	130422538	130422538	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtgatccacccgtccTgcagaggctgggttccctaa	7	9	10	15	1	0	2	0	1	0	1	3	2	3	2	5	2	1	3	5	2	1	2	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.2385A>G	p.=	p.A795A	ENST00000261655	13/19	132	99	33	142	142	0	strelka-varscan-mutect	RIMBP2,synonymous_variant,p.=,ENST00000261655,NM_015347.4;RP11-117L5.4,upstream_gene_variant,,ENST00000539532,;RP11-117L5.1,upstream_gene_variant,,ENST00000624734,;	C	ENST00000261655	Transcript	synonymous_variant	2549/6321	2385/3159	795/1052	A	gcA/gcG		1		-1	RIMBP2	HGNC	HGNC:30339	protein_coding	YES	CCDS31925.1	ENSP00000261655	O15034		UPI00001C1F42	NM_015347.4			13/19		hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	84	130422538	130422538	T	C	1	0	0	0	0	0	0	0	1	13538	1567	55	5		5	RIMBP2	12	130422538	Silent	SNP	T	C3N-01842_TP	257987	130422538	2852771	284	28138											
TUBA3C	0	.	GRCh38	chr13	19177224	19177224	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actaggttggtctggaattcCgtcaagtccacattcagggc	9	11	11	10	1	3	0	2	0	1	0	5	1	5	1	2	4	0	1	2	4	3	4	rs527372781		C3N-01842_TP	C3N-01842_NB	C	C																c.759G>A	p.=	p.T253T	ENST00000400113	4/5	264	185	79	427	425	2	strelka-varscan-mutect	TUBA3C,synonymous_variant,p.=,ENST00000400113,NM_006001.2;TUBA3C,synonymous_variant,p.=,ENST00000618094,;RP11-408E5.8,downstream_gene_variant,,ENST00000612362,;	T	ENST00000400113	Transcript	synonymous_variant	864/1551	759/1353	253/450	T	acG/acA	rs527372781,COSM81869	1		-1	TUBA3C	HGNC	HGNC:12408	protein_coding	YES	CCDS9284.1	ENSP00000382982	Q13748	Q1ZYQ1	UPI0000027DB1	NM_006001.2			4/5		hmmpanther:PTHR11588:SF94,hmmpanther:PTHR11588,Gene3D:3.40.50.1440,SMART_domains:SM00865,Superfamily_domains:SSF55307											0,1						LOW	1	SNV	5		0,1	1										PASS		rs527372781	.												T	2	4	84	19177224	19177224	C	T	1	0	0	0	0	0	0	0	1	17256	639	23	1		1	TUBA3C	13	19177224	Silent	SNP	C	C3N-01842_TP		19177224	95187104	285	28139											
GJB6	0	.	GRCh38	chr13	20222996	20222996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaacacccagggcaggTggtacccattgtaaaggaag	13	8	11	9	0	1	0	1	0	0	0	1	1	1	1	2	4	2	3	2	4	5	4	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.485A>G	p.His162Arg	p.H162R	ENST00000356192	5/5	397	255	142	576	576	0	strelka-varscan-mutect	GJB6,missense_variant,p.His162Arg,ENST00000356192,NM_001110219.2;GJB6,missense_variant,p.His162Arg,ENST00000400066,NM_001110220.2;GJB6,missense_variant,p.His162Arg,ENST00000636852,;GJB6,missense_variant,p.His162Arg,ENST00000241124,NM_006783.4;GJB6,missense_variant,p.His162Arg,ENST00000400065,NM_001110221.2;	C	ENST00000356192	Transcript	missense_variant	1106/2131	485/786	162/261	H/R	cAc/cGc		1		-1	GJB6	HGNC	HGNC:4288	protein_coding	YES	CCDS9291.1	ENSP00000348521	O95452	A0A024RDS4	UPI0000074737	NM_001110219.2	tolerated(0.51)		5/5		Gene3D:2zw3A00,Pfam_domain:PF00029,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF23,SMART_domains:SM01089																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	84	20222996	20222996	T	C	1	0	0	0	0	1	0	0	0	6289	1696	59	5		5	GJB6	13	20222996	Missense_Mutation	SNP	T	C3N-01842_TP	1045772	20222996	94141332	286	28140											
STARD13	0	.	GRCh38	chr13	33110696	33110696	+	Missense_Mutation	SNP	G	G	T																															ctgagattacctttttgaaaGcaagatctgtattgtccgtg																								novel		C3N-01842_TP	C3N-01842_NB	G	G																c.2819C>A	p.Ala940Asp	p.A940D	ENST00000336934	11/14	191	139	52	237	236	1	strelka-varscan-mutect	STARD13,missense_variant,p.Ala940Asp,ENST00000336934,NM_178006.3;STARD13,missense_variant,p.Ala932Asp,ENST00000255486,NM_178007.2;STARD13,missense_variant,p.Ala822Asp,ENST00000399365,NM_052851.2;STARD13,downstream_gene_variant,,ENST00000491333,;	T	ENST00000336934	Transcript	missense_variant	2936/5917	2819/3342	940/1113	A/D	gCt/gAt		1		-1	STARD13	HGNC	HGNC:19164	protein_coding	YES	CCDS9348.1	ENSP00000338785	Q9Y3M8	A0A024RDV4	UPI000006226E	NM_178006.3	deleterious(0)		11/14		Gene3D:3.30.530.20,Pfam_domain:PF01852,PROSITE_profiles:PS50848,hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF6,SMART_domains:SM00234,Superfamily_domains:SSF55961																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	33110696	33110696	G	T	1	0	0	0	0	1	0	0	0	15631	971	34	2		2	STARD13	13	33110696	Missense_Mutation	SNP	G	C3N-01842_TP	12887700	33110696	81253632	287	28141	593	2									
STARD13	0	.	GRCh38	chr13	33110697	33110697	+	Missense_Mutation	SNP	C	C	T																															tgagattacctttttgaaagCaagatctgtattgtccgtgc																								novel		C3N-01842_TP	C3N-01842_NB	C	C																c.2818G>A	p.Ala940Thr	p.A940T	ENST00000336934	11/14	192	139	53	240	240	0	strelka-varscan-mutect	STARD13,missense_variant,p.Ala940Thr,ENST00000336934,NM_178006.3;STARD13,missense_variant,p.Ala932Thr,ENST00000255486,NM_178007.2;STARD13,missense_variant,p.Ala822Thr,ENST00000399365,NM_052851.2;STARD13,downstream_gene_variant,,ENST00000491333,;	T	ENST00000336934	Transcript	missense_variant	2935/5917	2818/3342	940/1113	A/T	Gct/Act		1		-1	STARD13	HGNC	HGNC:19164	protein_coding	YES	CCDS9348.1	ENSP00000338785	Q9Y3M8	A0A024RDV4	UPI000006226E	NM_178006.3	deleterious(0.02)		11/14		Gene3D:3.30.530.20,Pfam_domain:PF01852,PROSITE_profiles:PS50848,hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF6,SMART_domains:SM00234,Superfamily_domains:SSF55961																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	33110697	33110697	C	T	1	0	0	0	0	1	0	0	0	15631	710	25	3		3	STARD13	13	33110697	Missense_Mutation	SNP	C	C3N-01842_TP	1	33110697	81253631	288	28142	593	2									
CLN5	0	.	GRCh38	chr13	76992240	76992240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcccgggtctcgggcatcCcctcccggcgccactggccg	2	6	14	19	5	1	0	0	0	1	0	5	0	4	0	6	5	0	1	6	5	0	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.289C>T	p.Pro97Ser	p.P97S	ENST00000636183	1/4	393	305	88	440	439	1	strelka-varscan-mutect	CLN5,missense_variant,p.Pro97Ser,ENST00000636183,NM_006493.2;CLN5,missense_variant,p.Pro52Ser,ENST00000637397,;CLN5,missense_variant,p.Pro67Ser,ENST00000636780,;CLN5,missense_variant,p.Pro48Ser,ENST00000377453,;CLN5,missense_variant,p.Pro51Ser,ENST00000616833,;CLN5,missense_variant,p.Pro55Ser,ENST00000637537,;CLN5,missense_variant,p.Pro49Ser,ENST00000636525,;CLN5,missense_variant,p.Pro49Ser,ENST00000636767,;CLN5,missense_variant,p.Pro62Ser,ENST00000485938,;RP11-226E21.4,missense_variant,p.Pro55Ser,ENST00000638147,;RP11-226E21.4,upstream_gene_variant,,ENST00000638101,;CLN5,upstream_gene_variant,,ENST00000636705,;RP11-226E21.4,upstream_gene_variant,,ENST00000635838,;CLN5,non_coding_transcript_exon_variant,,ENST00000635989,;CLN5,upstream_gene_variant,,ENST00000636405,;FBXL3,downstream_gene_variant,,ENST00000485797,;CLN5,missense_variant,p.Pro28Ser,ENST00000635915,;CLN5,non_coding_transcript_exon_variant,,ENST00000635905,;CLN5,upstream_gene_variant,,ENST00000636520,;CLN5,upstream_gene_variant,,ENST00000637278,;CLN5,upstream_gene_variant,,ENST00000636681,;RP11-226E21.4,upstream_gene_variant,,ENST00000637192,;CLN5,upstream_gene_variant,,ENST00000636602,;DHX9P1,downstream_gene_variant,,ENST00000436565,;	T	ENST00000636183	Transcript	missense_variant	1581/6664	289/1224	97/407	P/S	Ccc/Tcc		1		1	CLN5	HGNC	HGNC:2076	protein_coding	YES	CCDS9456.1	ENSP00000490181			UPI0000127AD8	NM_006493.2	tolerated_low_confidence(0.76)		1/4		hmmpanther:PTHR15380																	MODERATE	1	SNV				1										PASS		rs1131691423	.												T	3	4	84	76992240	76992240	C	T	1	0	0	0	0	1	0	0	0	3314	623	22	3		3	CLN5	13	76992240	Missense_Mutation	SNP	C	C3N-01842_TP	43881543	76992240	37372088	289	28143											
SLITRK6	0	.	GRCh38	chr13	85794764	85794764	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcaggagtggtgaccataAggtaactagtctgtgttggc	9	12	14	6	0	1	1	0	1	1	0	1	2	1	2	1	4	2	3	1	4	3	5			C3N-01842_TP	C3N-01842_NB	A	A																c.1745T>A	p.Leu582His	p.L582H	ENST00000400286	2/2	347	275	72	254	254	0	strelka-varscan-mutect	SLITRK6,missense_variant,p.Leu582His,ENST00000400286,NM_032229.2;	T	ENST00000400286	Transcript	missense_variant	2344/4318	1745/2526	582/841	L/H	cTt/cAt	COSM3980081	1		-1	SLITRK6	HGNC	HGNC:23503	protein_coding	YES	CCDS41903.1	ENSP00000383143	Q9H5Y7		UPI000004C9D6	NM_032229.2	tolerated(0.6)		2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF5											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	84	85794764	85794764	A	T	1	0	0	0	0	1	0	0	0	15038	72	3	4		4	SLITRK6	13	85794764	Missense_Mutation	SNP	A	C3N-01842_TP	8802524	85794764	28569564	290	28144											
SOX21	0	.	GRCh38	chr13	94711283	94711283	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcccatgcccggcagcAggatgtaggcgagcggcggc	6	5	17	13	4	0	0	0	0	0	0	0	2	0	1	2	5	4	4	2	5	1	2	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.767T>A	p.Leu256Gln	p.L256Q	ENST00000376945	1/1	41	36	5	64	64	0	strelka-varscan-mutect	SOX21,missense_variant,p.Leu256Gln,ENST00000376945,NM_007084.3;SOX21-AS1,upstream_gene_variant,,ENST00000438290,;	T	ENST00000376945	Transcript	missense_variant	1117/2778	767/831	256/276	L/Q	cTg/cAg		1		-1	SOX21	HGNC	HGNC:11197	protein_coding	YES	CCDS9473.1	ENSP00000366144	Q9Y651		UPI000003F547	NM_007084.3	deleterious(0)		1/1		hmmpanther:PTHR10270																	MODERATE		SNV				1										PASS		.	.												T	3	4	84	94711283	94711283	A	T	1	0	0	0	0	1	0	0	0	15276	188	7	4		4	SOX21	13	94711283	Missense_Mutation	SNP	A	C3N-01842_TP	8916519	94711283	19653045	291	28145											
NALCN	0	.	GRCh38	chr13	101229397	101229397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttaaaactcttaccctcGgaaacgtagtaaatctgtcc	12	14	5	10	2	2	0	0	0	2	0	4	1	3	1	2	1	3	2	2	1	7	6	rs749151544		C3N-01842_TP	C3N-01842_NB	G	G																c.1622C>A	p.Pro541Gln	p.P541Q	ENST00000251127	13/44	127	92	35	94	94	0	strelka-varscan-mutect	NALCN,missense_variant,p.Pro541Gln,ENST00000251127,NM_052867.2;NALCN,non_coding_transcript_exon_variant,,ENST00000470333,;NALCN,non_coding_transcript_exon_variant,,ENST00000497170,;	T	ENST00000251127	Transcript	missense_variant	1704/6818	1622/5217	541/1738	P/Q	cCg/cAg	rs749151544	1		-1	NALCN	HGNC	HGNC:19082	protein_coding	YES	CCDS9498.1	ENSP00000251127	Q8IZF0	A0A024RE05	UPI000004EBBD	NM_052867.2	deleterious(0)		13/44		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF214,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		rs749151544	.												T	3	4	84	101229397	101229397	G	T	1	0	0	0	0	1	0	0	0	10155	1130	39	1		1	NALCN	13	101229397	Missense_Mutation	SNP	G	C3N-01842_TP	6518114	101229397	13134931	292	28146											
ITGBL1	0	.	GRCh38	chr13	101598179	101598179	+	Missense_Mutation	SNP	T	T	A																															gacagtgtaattgcggaagaTgtgactgcaaagcaggctgg																								novel		C3N-01842_TP	C3N-01842_NB	T	T																c.895T>A	p.Cys299Ser	p.C299S	ENST00000376180	7/11	177	166	11	258	258	0	strelka-varscan-mutect	ITGBL1,missense_variant,p.Cys158Ser,ENST00000545560,NM_001271754.1;ITGBL1,missense_variant,p.Cys299Ser,ENST00000376180,NM_004791.2;ITGBL1,missense_variant,p.Cys206Ser,ENST00000622834,;ITGBL1,missense_variant,p.Cys250Ser,ENST00000618057,NM_001271755.1;ITGBL1,missense_variant,p.Cys206Ser,ENST00000376162,NM_001271756.1;ITGBL1,missense_variant,p.Cys13Ser,ENST00000490242,;ITGBL1,non_coding_transcript_exon_variant,,ENST00000474233,;	A	ENST00000376180	Transcript	missense_variant	1114/2494	895/1485	299/494	C/S	Tgt/Agt		1		1	ITGBL1	HGNC	HGNC:6164	protein_coding	YES	CCDS9499.1	ENSP00000365351	O95965	A0A024RDW7	UPI0000073C95	NM_004791.2	deleterious(0)		7/11		hmmpanther:PTHR10082:SF3,hmmpanther:PTHR10082,PROSITE_patterns:PS00243,Gene3D:2.10.25.10,Pfam_domain:PF07974,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	101598179	101598179	T	A	1	0	0	0	0	1	0	0	0	7808	1464	51	4		4	ITGBL1	13	101598179	Missense_Mutation	SNP	T	C3N-01842_TP	368782	101598179	12766149	293	28147	594	2									
ITGBL1	0	.	GRCh38	chr13	101598180	101598180	+	Missense_Mutation	SNP	G	G	A																															acagtgtaattgcggaagatGtgactgcaaagcaggctggt																								novel		C3N-01842_TP	C3N-01842_NB	G	G																c.896G>A	p.Cys299Tyr	p.C299Y	ENST00000376180	7/11	179	168	11	260	259	1	strelka-varscan-mutect	ITGBL1,missense_variant,p.Cys158Tyr,ENST00000545560,NM_001271754.1;ITGBL1,missense_variant,p.Cys299Tyr,ENST00000376180,NM_004791.2;ITGBL1,missense_variant,p.Cys206Tyr,ENST00000622834,;ITGBL1,missense_variant,p.Cys250Tyr,ENST00000618057,NM_001271755.1;ITGBL1,missense_variant,p.Cys206Tyr,ENST00000376162,NM_001271756.1;ITGBL1,missense_variant,p.Cys13Tyr,ENST00000490242,;ITGBL1,non_coding_transcript_exon_variant,,ENST00000474233,;	A	ENST00000376180	Transcript	missense_variant	1115/2494	896/1485	299/494	C/Y	tGt/tAt		1		1	ITGBL1	HGNC	HGNC:6164	protein_coding	YES	CCDS9499.1	ENSP00000365351	O95965	A0A024RDW7	UPI0000073C95	NM_004791.2	deleterious(0)		7/11		hmmpanther:PTHR10082:SF3,hmmpanther:PTHR10082,PROSITE_patterns:PS00243,Gene3D:2.10.25.10,Pfam_domain:PF07974,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	101598180	101598180	G	A	1	0	0	0	0	1	0	0	0	7808	1377	48	3		3	ITGBL1	13	101598180	Missense_Mutation	SNP	G	C3N-01842_TP	1	101598180	12766148	294	28148	594	2									
COL4A2	0	.	GRCh38	chr13	110469293	110469293	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggggcttgccaggagaCgcaggtcgtgaagggttccc	7	6	16	12	2	0	2	0	1	0	1	2	3	1	2	3	5	1	3	3	5	1	2	rs375427719		C3N-01842_TP	C3N-01842_NB	C	C																c.2172C>T	p.=	p.D724D	ENST00000360467	28/48	224	181	43	305	305	0	strelka-varscan-mutect	COL4A2,synonymous_variant,p.=,ENST00000360467,NM_001846.2;COL4A2,non_coding_transcript_exon_variant,,ENST00000494852,;	T	ENST00000360467	Transcript	synonymous_variant	2478/6281	2172/5139	724/1712	D	gaC/gaT	rs375427719,COSM3786138	1		1	COL4A2	HGNC	HGNC:2203	protein_coding	YES	CCDS41907.1	ENSP00000353654	P08572	A0A024RDW8	UPI000041C713	NM_001846.2			28/48		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF588,Pfam_domain:PF01391,Pfam_domain:PF01391											0,1						LOW	1	SNV	5		0,1	1										PASS		rs375427719	.												T	2	4	84	110469293	110469293	C	T	1	0	0	0	0	0	0	0	1	3479	535	19	1		1	COL4A2	13	110469293	Silent	SNP	C	C3N-01842_TP	8871113	110469293	3895035	295	28149											
SLC7A8	0	.	GRCh38	chr14	23129655	23129655	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtttctctcaccttgaTggggcgggggatatcaggct	6	11	16	8	1	3	1	2	1	1	0	4	3	3	3	1	6	0	2	1	6	1	3	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.1258A>T	p.Ile420Phe	p.I420F	ENST00000316902	9/11	143	112	31	165	165	0	strelka-varscan-mutect	SLC7A8,missense_variant,p.Ile420Phe,ENST00000316902,NM_012244.3;SLC7A8,missense_variant,p.Ile196Phe,ENST00000422941,NM_001267037.1;SLC7A8,missense_variant,p.Ile315Phe,ENST00000529705,NM_001267036.1;SLC7A8,missense_variant,p.Ile217Phe,ENST00000453702,NM_182728.2;SLC7A8,3_prime_UTR_variant,,ENST00000621729,;SLC7A8,intron_variant,,ENST00000469263,;SLC7A8,missense_variant,p.Ile223Phe,ENST00000339733,;SLC7A8,3_prime_UTR_variant,,ENST00000528860,;SLC7A8,non_coding_transcript_exon_variant,,ENST00000397310,;SLC7A8,non_coding_transcript_exon_variant,,ENST00000528806,;SLC7A8,non_coding_transcript_exon_variant,,ENST00000528186,;	A	ENST00000316902	Transcript	missense_variant	1984/4216	1258/1608	420/535	I/F	Atc/Ttc		1		-1	SLC7A8	HGNC	HGNC:11066	protein_coding	YES	CCDS9590.1	ENSP00000320378	Q9UHI5		UPI000012E235	NM_012244.3	deleterious(0.01)		9/11		hmmpanther:PTHR11785:SF113,hmmpanther:PTHR11785,Pfam_domain:PF13520,TIGRFAM_domain:TIGR00911,PIRSF_domain:PIRSF006060																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	23129655	23129655	T	A	1	0	0	0	0	1	0	0	0	14987	1478	51	4		4	SLC7A8	14	23129655	Missense_Mutation	SNP	T	C3N-01842_TP		23129655	83914063	296	28150											
IPO4	0	.	GRCh38	chr14	24184062	24184062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctgttccaagtggggcGccaggccctcacccatcaga	8	8	11	14	1	3	2	2	1	1	1	4	2	4	2	4	3	0	1	4	3	1	1	rs559669192		C3N-01842_TP	C3N-01842_NB	G	G																c.1805C>A	p.Ala602Glu	p.A602E	ENST00000354464	18/30	337	257	80	387	386	1	strelka-varscan-mutect	IPO4,missense_variant,p.Ala602Glu,ENST00000354464,NM_024658.3;IPO4,missense_variant,p.Ala66Glu,ENST00000561462,;REC8,downstream_gene_variant,,ENST00000620473,;REC8,downstream_gene_variant,,ENST00000611366,NM_005132.2,NM_001048205.1;IPO4,upstream_gene_variant,,ENST00000558233,;RP11-468E2.2,downstream_gene_variant,,ENST00000625289,;REC8,downstream_gene_variant,,ENST00000559939,;IPO4,missense_variant,p.Ala602Glu,ENST00000560155,;RP11-468E2.2,3_prime_UTR_variant,,ENST00000561419,;IPO4,3_prime_UTR_variant,,ENST00000558780,;IPO4,3_prime_UTR_variant,,ENST00000558046,;IPO4,non_coding_transcript_exon_variant,,ENST00000561090,;IPO4,non_coding_transcript_exon_variant,,ENST00000560798,;IPO4,non_coding_transcript_exon_variant,,ENST00000559588,;IPO4,non_coding_transcript_exon_variant,,ENST00000561199,;REC8,downstream_gene_variant,,ENST00000619469,;REC8,downstream_gene_variant,,ENST00000559797,;IPO4,upstream_gene_variant,,ENST00000560935,;IPO4,upstream_gene_variant,,ENST00000561379,;IPO4,downstream_gene_variant,,ENST00000559253,;IPO4,downstream_gene_variant,,ENST00000560222,;REC8,downstream_gene_variant,,ENST00000558191,;IPO4,downstream_gene_variant,,ENST00000560315,;IPO4,downstream_gene_variant,,ENST00000558193,;IPO4,downstream_gene_variant,,ENST00000558718,;IPO4,downstream_gene_variant,,ENST00000561034,;IPO4,downstream_gene_variant,,ENST00000557996,;IPO4,downstream_gene_variant,,ENST00000559635,;REC8,downstream_gene_variant,,ENST00000558381,;	T	ENST00000354464	Transcript	missense_variant	1982/3646	1805/3246	602/1081	A/E	gCg/gAg	rs559669192	1		-1	IPO4	HGNC	HGNC:19426	protein_coding	YES	CCDS9616.1	ENSP00000346453	Q8TEX9		UPI000013CCB3	NM_024658.3	tolerated(0.07)		18/30		Gene3D:1.25.10.10,hmmpanther:PTHR10527,hmmpanther:PTHR10527:SF6,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs559669192	.												T	3	4	84	24184062	24184062	G	T	1	0	0	0	0	1	0	0	0	7698	1087	38	1		1	IPO4	14	24184062	Missense_Mutation	SNP	G	C3N-01842_TP	1054407	24184062	82859656	297	28151											
G2E3	0	.	GRCh38	chr14	30601876	30601876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagtgtttggaatgtaggGgtattatctacaattcaggt	10	14	14	3	0	2	0	1	0	1	0	2	2	2	2	0	5	1	3	0	5	6	6	rs569030142		C3N-01842_TP	C3N-01842_NB	G	G																c.859G>T	p.Gly287Cys	p.G287C	ENST00000206595	9/15	274	222	52	288	288	0	strelka-varscan-mutect	G2E3,missense_variant,p.Gly287Cys,ENST00000206595,NM_017769.3;G2E3,missense_variant,p.Gly317Cys,ENST00000553504,;G2E3,missense_variant,p.Gly241Cys,ENST00000438909,NM_001308097.1;G2E3,missense_variant,p.Gly53Cys,ENST00000552515,;G2E3,non_coding_transcript_exon_variant,,ENST00000544007,;G2E3,downstream_gene_variant,,ENST00000549553,;G2E3,upstream_gene_variant,,ENST00000547638,;G2E3,missense_variant,p.Gly51Cys,ENST00000548934,;	T	ENST00000206595	Transcript	missense_variant	1013/5804	859/2121	287/706	G/C	Ggt/Tgt	rs569030142	1		1	G2E3	HGNC	HGNC:20338	protein_coding	YES	CCDS9638.1	ENSP00000206595	Q7L622		UPI000013F3A8	NM_017769.3	deleterious(0.02)		9/15		hmmpanther:PTHR12420,hmmpanther:PTHR12420:SF26,Gene3D:3.30.40.10,Superfamily_domains:SSF57903																	MODERATE	1	SNV	1			1										PASS		rs569030142	.												T	3	4	84	30601876	30601876	G	T	1	0	0	0	0	1	0	0	0	6011	1232	43	2		2	G2E3	14	30601876	Missense_Mutation	SNP	G	C3N-01842_TP	6417814	30601876	76441842	298	28152											
RALGAPA1	0	.	GRCh38	chr14	35627832	35627832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attgtcgtgattttcacacaCctgacttgttagcatagcag	10	14	8	9	1	1	2	1	2	0	0	2	2	1	2	1	0	2	3	1	0	2	6	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.4597G>A	p.Val1533Met	p.V1533M	ENST00000307138	33/40	105	93	12	97	97	0	varscan-mutect	RALGAPA1,missense_variant,p.Val1992Met,ENST00000637992,;RALGAPA1,missense_variant,p.Val1533Met,ENST00000307138,NM_194301.2;RALGAPA1,missense_variant,p.Val1533Met,ENST00000389698,NM_014990.1;RALGAPA1,missense_variant,p.Val1546Met,ENST00000382366,NM_001283043.1;RALGAPA1,missense_variant,p.Val1580Met,ENST00000553892,NM_001283044.1;RALGAPA1,missense_variant,p.Val171Met,ENST00000554259,;RALGAPA1,upstream_gene_variant,,ENST00000554573,;	T	ENST00000307138	Transcript	missense_variant	5066/7911	4597/6252	1533/2083	V/M	Gtg/Atg		1		-1	RALGAPA1	HGNC	HGNC:17770	protein_coding	YES	CCDS32064.1	ENSP00000302647	Q6GYQ0		UPI00003B5C51	NM_194301.2	deleterious(0.02)		33/40		hmmpanther:PTHR10063:SF3,hmmpanther:PTHR10063																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	35627832	35627832	C	T	1	0	0	0	0	1	0	0	0	13172	507	18	3		3	RALGAPA1	14	35627832	Missense_Mutation	SNP	C	C3N-01842_TP	5025956	35627832	71415886	299	28153											
LRFN5	0	.	GRCh38	chr14	41887922	41887922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacatcatcaacggcactaCttaaatttaattttcaaaga	16	13	3	9	1	3	1	3	0	0	1	3	1	3	1	0	1	3	1	0	1	7	7	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1297C>A	p.Leu433Ile	p.L433I	ENST00000298119	3/6	297	246	51	180	179	1	strelka-varscan-mutect	LRFN5,missense_variant,p.Leu433Ile,ENST00000554171,;LRFN5,missense_variant,p.Leu433Ile,ENST00000298119,NM_152447.3;LRFN5,missense_variant,p.Leu433Ile,ENST00000554120,;	A	ENST00000298119	Transcript	missense_variant	2486/3723	1297/2160	433/719	L/I	Ctt/Att		1		1	LRFN5	HGNC	HGNC:20360	protein_coding	YES	CCDS9678.1	ENSP00000298119	Q96NI6		UPI000000DA1E	NM_152447.3	tolerated(1)		3/6		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	41887922	41887922	C	A	1	0	0	0	0	1	0	0	0	8835	565	20	2		2	LRFN5	14	41887922	Missense_Mutation	SNP	C	C3N-01842_TP	6260090	41887922	65155796	300	28154											
TXNDC16	0	.	GRCh38	chr14	52514887	52514887	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttatacatacccaatacTttccaaaagggcaatttctg	13	15	4	9	0	1	0	0	0	1	0	2	0	2	0	2	1	3	1	2	1	8	8			C3N-01842_TP	C3N-01842_NB	T	T																c.598A>T	p.Ser200Cys	p.S200C	ENST00000281741	8/21	137	104	33	109	108	1	strelka-varscan-mutect	TXNDC16,missense_variant,p.Ser200Cys,ENST00000281741,NM_001160047.1,NM_020784.2;TXNDC16,intron_variant,,ENST00000557374,;TXNDC16,intron_variant,,ENST00000554399,;	A	ENST00000281741	Transcript	missense_variant	970/4564	598/2478	200/825	S/C	Agt/Tgt	COSM4913572	1		-1	TXNDC16	HGNC	HGNC:19965	protein_coding	YES	CCDS32083.1	ENSP00000281741	Q9P2K2		UPI000059D245	NM_001160047.1,NM_020784.2	deleterious(0.03)		8/21		hmmpanther:PTHR22699,hmmpanther:PTHR22699:SF1											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	84	52514887	52514887	T	A	1	0	0	0	0	1	0	0	0	17311	1609	56	4		4	TXNDC16	14	52514887	Missense_Mutation	SNP	T	C3N-01842_TP	10626965	52514887	54528831	301	28155											
C14orf105	0	.	GRCh38	chr14	57491049	57491049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtgttccagtgggatGtcaaaatacatgtctctgga	9	14	10	8	0	3	0	1	0	2	0	6	2	4	2	1	2	1	1	1	2	3	2	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.246C>A	p.Asp82Glu	p.D82E	ENST00000422976	2/7	527	444	83	307	307	0	strelka-varscan-mutect	C14orf105,missense_variant,p.Asp82Glu,ENST00000216445,NM_018168.3,NM_001283059.1,NM_001283058.1;C14orf105,missense_variant,p.Asp82Glu,ENST00000422976,NM_001283056.1;C14orf105,missense_variant,p.Asp82Glu,ENST00000534126,NM_001283057.1;C14orf105,missense_variant,p.Asp82Glu,ENST00000526336,;C14orf105,missense_variant,p.Asp82Glu,ENST00000526745,;C14orf105,missense_variant,p.Asp82Glu,ENST00000530417,;C14orf105,3_prime_UTR_variant,,ENST00000534528,;C14orf105,3_prime_UTR_variant,,ENST00000529860,NM_001283060.1;	T	ENST00000422976	Transcript	missense_variant	288/1153	246/1011	82/336	D/E	gaC/gaA		1		-1	C14orf105	HGNC	HGNC:20189	protein_coding	YES	CCDS61459.1	ENSP00000392368		F5GWJ3	UPI000204A979	NM_001283056.1	deleterious(0)		2/7		hmmpanther:PTHR16065,Pfam_domain:PF15398																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	57491049	57491049	G	T	1	0	0	0	0	1	0	0	0	1827	1368	48	2		2	C14orf105	14	57491049	Missense_Mutation	SNP	G	C3N-01842_TP	4976162	57491049	49552669	302	28156											
SYNE2	0	.	GRCh38	chr14	63976676	63976676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagatttgtcagcctcccaGgatcactctcaagccgtgac	10	9	9	13	1	3	2	3	1	1	1	5	4	4	3	3	1	2	0	3	1	2	1	rs757157681		C3N-01842_TP	C3N-01842_NB	G	G																c.1242G>T	p.Gln414His	p.Q414H	ENST00000358025	12/116	423	335	88	305	304	1	strelka-varscan-mutect	SYNE2,missense_variant,p.Gln414His,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Gln414His,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Gln414His,ENST00000357395,;SYNE2,missense_variant,p.Gln414His,ENST00000554584,;	T	ENST00000358025	Transcript	missense_variant	1454/21842	1242/20724	414/6907	Q/H	caG/caT	rs757157681	1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2	tolerated(0.08)		12/116		hmmpanther:PTHR11915:SF317,hmmpanther:PTHR11915																	MODERATE	1	SNV	5			1										PASS		rs757157681	.												T	3	4	84	63976676	63976676	G	T	1	0	0	0	0	1	0	0	0	15838	991	35	2		2	SYNE2	14	63976676	Missense_Mutation	SNP	G	C3N-01842_TP	6485627	63976676	43067042	303	28157											
SPTB	0	.	GRCh38	chr14	64750142	64750142	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcctgagcacacagtacagGttgttccaggacctgcaaag	11	9	10	11	0	0	1	0	1	0	0	2	2	2	2	3	2	3	5	3	2	2	4	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.6615C>A	p.Asn2205Lys	p.N2205K	ENST00000556626	34/36	220	180	40	172	172	0	strelka-varscan-mutect	SPTB,missense_variant,p.Asn2205Lys,ENST00000556626,;SPTB,missense_variant,p.Asn2205Lys,ENST00000389722,NM_001024858.2;SPTB,missense_variant,p.Asn905Lys,ENST00000553938,;PLEKHG3,3_prime_UTR_variant,,ENST00000247226,NM_001308147.1;SPTB,non_coding_transcript_exon_variant,,ENST00000342835,;SPTB,non_coding_transcript_exon_variant,,ENST00000556227,;	T	ENST00000556626	Transcript	missense_variant	6758/10153	6615/6987	2205/2328	N/K	aaC/aaA		1		-1	SPTB	HGNC	HGNC:11274	protein_coding	YES	CCDS32099.1	ENSP00000451752	P11277		UPI000053030D		tolerated(0.52)		34/36		PROSITE_profiles:PS50003,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF248,PIRSF_domain:PIRSF002297,Pfam_domain:PF15410,Gene3D:2.30.29.30,SMART_domains:SM00233,SMART_domains:SM00150,Superfamily_domains:SSF50729,Prints_domain:PR00683																	MODERATE	1	SNV	1			1										PASS		rs1437599682	.												T	3	4	84	64750142	64750142	G	T	1	0	0	0	0	1	0	0	0	15474	1252	44	2		2	SPTB	14	64750142	Missense_Mutation	SNP	G	C3N-01842_TP	773466	64750142	42293576	304	28158											
ACTN1	0	.	GRCh38	chr14	68885436	68885436	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacctacttgagctcctgTgcgatggcggcaatctgctc	6	10	11	14	2	1	1	0	1	1	0	3	2	2	1	3	2	4	3	3	2	2	2	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.1374A>T	p.=	p.A458A	ENST00000394419	12/22	94	87	7	93	92	1	strelka-varscan-mutect	ACTN1,synonymous_variant,p.=,ENST00000193403,NM_001102.3;ACTN1,synonymous_variant,p.=,ENST00000394419,NM_001130004.1;ACTN1,synonymous_variant,p.=,ENST00000438964,NM_001130005.1;ACTN1,synonymous_variant,p.=,ENST00000376839,;ACTN1,synonymous_variant,p.=,ENST00000538545,;ACTN1,synonymous_variant,p.=,ENST00000544964,;ACTN1,upstream_gene_variant,,ENST00000555075,;ACTN1,upstream_gene_variant,,ENST00000553290,;ACTN1,upstream_gene_variant,,ENST00000556343,;ACTN1,non_coding_transcript_exon_variant,,ENST00000556083,;ACTN1,upstream_gene_variant,,ENST00000556432,;HMGN1P3,downstream_gene_variant,,ENST00000555136,;	A	ENST00000394419	Transcript	synonymous_variant	1557/3464	1374/2745	458/914	A	gcA/gcT		1		-1	ACTN1	HGNC	HGNC:163	protein_coding	YES	CCDS45130.1	ENSP00000377941	P12814		UPI0000D79B2C	NM_001130004.1			12/22		Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF241,SMART_domains:SM00150,Superfamily_domains:SSF46966																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	68885436	68885436	T	A	1	0	0	0	0	0	0	0	1	248	1683	59	4		4	ACTN1	14	68885436	Silent	SNP	T	C3N-01842_TP	4135294	68885436	38158282	305	28159											
SLC8A3	0	.	GRCh38	chr14	70167199	70167199	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacagccccacagttctcCaggcactggtaagaacatgg	12	7	10	12	0	1	1	0	0	1	1	2	1	1	1	3	3	3	4	3	3	3	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1224G>T	p.=	p.L408L	ENST00000381269	2/8	539	340	199	464	462	2	strelka-varscan-mutect	SLC8A3,synonymous_variant,p.=,ENST00000381269,NM_183002.2;SLC8A3,synonymous_variant,p.=,ENST00000357887,NM_033262.4;SLC8A3,synonymous_variant,p.=,ENST00000356921,NM_182932.2;SLC8A3,synonymous_variant,p.=,ENST00000528359,;SLC8A3,synonymous_variant,p.=,ENST00000534137,NM_058240.3;SLC8A3,synonymous_variant,p.=,ENST00000494208,;	A	ENST00000381269	Transcript	synonymous_variant	1978/5268	1224/2784	408/927	L	ctG/ctT		1		-1	SLC8A3	HGNC	HGNC:11070	protein_coding	YES	CCDS35498.1	ENSP00000370669	P57103		UPI0000073C9A	NM_183002.2			2/8		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF7,Pfam_domain:PF03160,TIGRFAM_domain:TIGR00845,SMART_domains:SM00237,Superfamily_domains:SSF141072																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	70167199	70167199	C	A	1	0	0	0	0	0	0	0	1	14991	581	21	2		2	SLC8A3	14	70167199	Silent	SNP	C	C3N-01842_TP	1281763	70167199	36876519	306	28160											
SNW1	0	.	GRCh38	chr14	77732539	77732539	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgaaattttcatttatGtgtactgtctgtagtcctct	7	19	8	7	1	3	0	1	0	2	0	4	1	4	0	1	1	1	2	1	1	4	7	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.837C>T	p.=	p.H279H	ENST00000261531	9/14	270	221	49	214	214	0	strelka-varscan-mutect	SNW1,synonymous_variant,p.=,ENST00000261531,NM_012245.2;SNW1,synonymous_variant,p.=,ENST00000555761,;SNW1,synonymous_variant,p.=,ENST00000554775,;SNW1,synonymous_variant,p.=,ENST00000554324,;SLIRP,intron_variant,,ENST00000557431,;SLIRP,intron_variant,,ENST00000556375,;SNW1,3_prime_UTR_variant,,ENST00000556428,;SNW1,non_coding_transcript_exon_variant,,ENST00000553565,;SLIRP,intron_variant,,ENST00000556310,;	A	ENST00000261531	Transcript	synonymous_variant	900/2163	837/1611	279/536	H	caC/caT		1		-1	SNW1	HGNC	HGNC:16696	protein_coding	YES	CCDS9867.1	ENSP00000261531	Q13573		UPI000000DB2D	NM_012245.2			9/14		hmmpanther:PTHR12096,Pfam_domain:PF02731																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	77732539	77732539	G	A	1	0	0	0	0	0	0	0	1	15200	1368	48	3		3	SNW1	14	77732539	Silent	SNP	G	C3N-01842_TP	7565340	77732539	29311179	307	28161											
CEP128	0	.	GRCh38	chr14	80785278	80785278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttcttcctccaagtgagCtttctcaactttcatctggc	8	16	5	12	0	4	1	2	1	3	0	7	1	6	1	2	1	2	1	2	1	3	4			C3N-01842_TP	C3N-01842_NB	C	C																c.1828G>A	p.Ala610Thr	p.A610T	ENST00000555265	15/25	458	365	93	339	339	0	strelka-varscan-mutect	CEP128,missense_variant,p.Ala610Thr,ENST00000555265,;CEP128,missense_variant,p.Ala610Thr,ENST00000281129,NM_152446.3;CEP128,missense_variant,p.Ala302Thr,ENST00000554502,;	T	ENST00000555265	Transcript	missense_variant	2204/4662	1828/3285	610/1094	A/T	Gct/Act	COSM958297	1		-1	CEP128	HGNC	HGNC:20359	protein_coding	YES	CCDS32130.1	ENSP00000451162	Q6ZU80		UPI000022982E		tolerated(0.58)		15/25		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF205											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	84	80785278	80785278	C	T	1	0	0	0	0	1	0	0	0	2958	797	28	3		3	CEP128	14	80785278	Missense_Mutation	SNP	C	C3N-01842_TP	3052739	80785278	26258440	308	28162											
FLRT2	0	.	GRCh38	chr14	85623255	85623255	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaagtggaaatacaacCggggccggcggaaagatgat	14	4	14	9	3	0	3	0	1	0	2	0	5	0	5	3	5	2	0	3	5	5	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1741C>G	p.Arg581Gly	p.R581G	ENST00000330753	2/2	39	33	6	32	32	0	strelka-mutect	FLRT2,missense_variant,p.Arg581Gly,ENST00000330753,NM_013231.4;FLRT2,missense_variant,p.Arg581Gly,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	G	ENST00000330753	Transcript	missense_variant	2508/33679	1741/1983	581/660	R/G	Cgg/Ggg		1		1	FLRT2	HGNC	HGNC:3761	protein_coding	YES	CCDS9877.1	ENSP00000332879	O43155		UPI0000049E10	NM_013231.4	deleterious(0)		2/2		hmmpanther:PTHR24369:SF23,hmmpanther:PTHR24369																	MODERATE	1	SNV	1			1										PASS		rs1157482367	.												G	3	3	84	85623255	85623255	C	G	1	0	0	0	0	1	0	0	0	5795	643	23	4		4	FLRT2	14	85623255	Missense_Mutation	SNP	C	C3N-01842_TP	4837977	85623255	21420463	309	28163											
GLRX5	0	.	GRCh38	chr14	95535228	95535228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcggcggagcagttggacGcgctggtgaagaaggacaag	10	5	18	8	4	0	2	0	1	0	1	1	5	0	5	0	5	1	4	0	5	3	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.139G>T	p.Ala47Ser	p.A47S	ENST00000331334	1/2	299	239	60	297	297	0	strelka-varscan-mutect	GLRX5,missense_variant,p.Ala47Ser,ENST00000331334,NM_016417.2;GLRX5,upstream_gene_variant,,ENST00000557731,;SCARNA13,upstream_gene_variant,,ENST00000516672,;SNHG10,upstream_gene_variant,,ENST00000500370,;SNHG10,upstream_gene_variant,,ENST00000554169,;SNHG10,upstream_gene_variant,,ENST00000553559,;SNHG10,upstream_gene_variant,,ENST00000555866,;GLRX5,intron_variant,,ENST00000553672,;	T	ENST00000331334	Transcript	missense_variant	636/1564	139/474	47/157	A/S	Gcg/Tcg		1		1	GLRX5	HGNC	HGNC:20134	protein_coding	YES	CCDS9936.1	ENSP00000328570	Q86SX6		UPI000000DC2E	NM_016417.2	tolerated(0.38)		1/2		Gene3D:3.40.30.10,PROSITE_profiles:PS51354,hmmpanther:PTHR10293,Low_complexity_(Seg):seg,Superfamily_domains:SSF52833,TIGRFAM_domain:TIGR00365																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	95535228	95535228	G	T	1	0	0	0	0	1	0	0	0	6341	1087	38	1		1	GLRX5	14	95535228	Missense_Mutation	SNP	G	C3N-01842_TP	9911973	95535228	11508490	310	28164											
RTL1	0	.	GRCh38	chr14	100883226	100883226	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagagtggaaggtgcagcgGcctttgatccagtcgacttc	8	9	15	9	2	0	2	0	1	0	1	3	5	1	3	2	4	2	1	2	4	1	2	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1563C>A	p.=	p.G521G	ENST00000534062	1/1	197	155	42	184	184	0	strelka-varscan-mutect	RTL1,synonymous_variant,p.=,ENST00000534062,NM_001134888.2;MEG8,intron_variant,,ENST00000637474,;MIR431,downstream_gene_variant,,ENST00000385266,;MIR127,downstream_gene_variant,,ENST00000384876,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR433,downstream_gene_variant,,ENST00000384837,;MIR136,upstream_gene_variant,,ENST00000385207,;	T	ENST00000534062	Transcript	synonymous_variant	1622/4193	1563/4077	521/1358	G	ggC/ggA		1		-1	RTL1	HGNC	HGNC:14665	protein_coding	YES	CCDS53910.1	ENSP00000435342	A6NKG5		UPI00001D7B9E	NM_001134888.2			1/1																			LOW	1	SNV				1										PASS		.	.												T	2	4	84	100883226	100883226	G	T	1	0	0	0	0	0	0	0	1	13984	1190	42	2		2	RTL1	14	100883226	Silent	SNP	G	C3N-01842_TP	5347998	100883226	6160492	311	28165											
DYNC1H1	0	.	GRCh38	chr14	102032468	102032468	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctctgcagaggagatcagGtgagaaagtggaagtgccaa	13	8	14	6	0	2	3	1	1	1	3	3	6	2	4	1	3	2	1	1	3	3	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.10079+1G>T		p.X3360_splice	ENST00000360184		554	445	109	518	518	0	strelka-varscan-mutect	DYNC1H1,splice_donor_variant,,ENST00000360184,NM_001376.4;DYNC1H1,upstream_gene_variant,,ENST00000553423,;RP11-1017G21.4,downstream_gene_variant,,ENST00000557551,;RP11-1017G21.4,downstream_gene_variant,,ENST00000557242,;RP11-1017G21.4,downstream_gene_variant,,ENST00000553701,;DYNC1H1,upstream_gene_variant,,ENST00000556791,;DYNC1H1,downstream_gene_variant,,ENST00000554854,;	T	ENST00000360184	Transcript	splice_donor_variant	-/14333	10079/13941	3360/4646				1		1	DYNC1H1	HGNC	HGNC:2961	protein_coding	YES	CCDS9966.1	ENSP00000348965	Q14204		UPI00001B515A	NM_001376.4				52/77																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	84	102032468	102032468	G	T	1	0	0	0	0	0	0	1	0	4665	1275	44	2		2	DYNC1H1	14	102032468	Splice_Site	SNP	G	C3N-01842_TP	1149242	102032468	5011250	312	28166											
RCOR1	0	.	GRCh38	chr14	102722286	102722286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtaaattatcgacgccGcttcaacatagatgaagttt	12	15	7	7	3	1	2	1	1	0	1	2	3	1	2	1	0	1	3	1	0	6	7			C3N-01842_TP	C3N-01842_NB	G	G																c.1289G>T	p.Arg430Leu	p.R430L	ENST00000262241	11/12	559	463	96	397	397	0	strelka-varscan-mutect	RCOR1,missense_variant,p.Arg430Leu,ENST00000262241,NM_015156.3;RCOR1,3_prime_UTR_variant,,ENST00000560472,;RCOR1,downstream_gene_variant,,ENST00000559597,;	T	ENST00000262241	Transcript	missense_variant	1515/5754	1289/1458	430/485	R/L	cGc/cTc	COSM3419640	1		1	RCOR1	HGNC	HGNC:17441	protein_coding	YES	CCDS9974.2	ENSP00000262241		J3KN32	UPI0000D6A053	NM_015156.3	deleterious(0)		11/12		PROSITE_profiles:PS51293,hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF11,SMART_domains:SM00717,Superfamily_domains:SSF46689											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	84	102722286	102722286	G	T	1	0	0	0	0	1	0	0	0	13352	1087	38	1		1	RCOR1	14	102722286	Missense_Mutation	SNP	G	C3N-01842_TP	689818	102722286	4321432	313	28167											
GOLGA8J	0	.	GRCh38	chr15	30087620	30087620	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaacattcattgcagcGtaaaggagagttagagagtg	13	9	12	7	1	1	2	1	0	0	2	1	4	1	2	1	1	4	4	1	1	4	4	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.527G>C	p.Arg176Pro	p.R176P	ENST00000567927	8/19	41	29	12	75	75	0	strelka-varscan-mutect	GOLGA8J,missense_variant,p.Arg176Pro,ENST00000567927,NM_001282472.1;RN7SL673P,upstream_gene_variant,,ENST00000616262,;GOLGA8J,non_coding_transcript_exon_variant,,ENST00000568123,;	C	ENST00000567927	Transcript	missense_variant	527/1899	527/1899	176/632	R/P	cGt/cCt		1		1	GOLGA8J	HGNC	HGNC:38650	protein_coding	YES	CCDS61574.1	ENSP00000456401	A6NMD2		UPI0001A5E7A2	NM_001282472.1	deleterious(0.01)		8/19		hmmpanther:PTHR10881:SF48,hmmpanther:PTHR10881																	MODERATE	1	SNV	5			1										PASS		rs1257778104	.												C	3	2	84	30087620	30087620	G	C	1	0	0	0	0	1	0	0	0	6452	1145	40	4		4	GOLGA8J	15	30087620	Missense_Mutation	SNP	G	C3N-01842_TP		30087620	71903569	314	28168											
RYR3	0	.	GRCh38	chr15	33816950	33816950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgaagagaaactagtacagGatttggctgtaagtactgac	14	11	11	5	0	0	3	0	2	0	1	0	5	0	4	0	2	3	4	0	2	6	6	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.10591G>A	p.Asp3531Asn	p.D3531N	ENST00000634891	75/104	119	89	30	159	159	0	strelka-varscan-mutect	RYR3,missense_variant,p.Asp3531Asn,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Asp3534Asn,ENST00000622037,;RYR3,missense_variant,p.Asp3526Asn,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Asp3530Asn,ENST00000389232,;RYR3,intron_variant,,ENST00000634418,;RYR3,downstream_gene_variant,,ENST00000638085,;RYR3,downstream_gene_variant,,ENST00000638038,;RYR3,3_prime_UTR_variant,,ENST00000635790,;RYR3,upstream_gene_variant,,ENST00000558060,;RYR3,upstream_gene_variant,,ENST00000557931,;	A	ENST00000634891	Transcript	missense_variant	10692/15591	10591/14613	3531/4870	D/N	Gat/Aat		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	deleterious(0.03)		75/104		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	33816950	33816950	G	A	1	0	0	0	0	1	0	0	0	14030	1174	41	3		3	RYR3	15	33816950	Missense_Mutation	SNP	G	C3N-01842_TP	3729330	33816950	68174239	315	28169											
RYR3	0	.	GRCh38	chr15	33827204	33827204	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactggtgctctcagactttCagaacttcctgcggactcag	8	11	9	13	1	3	2	3	0	1	2	5	3	4	3	1	2	3	1	1	2	1	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.11251C>T	p.Gln3751Ter	p.Q3751*	ENST00000634891	85/104	161	91	70	236	236	0	strelka-varscan-mutect	RYR3,stop_gained,p.Gln3751Ter,ENST00000634891,NM_001036.4;RYR3,stop_gained,p.Gln3754Ter,ENST00000622037,;RYR3,stop_gained,p.Gln3746Ter,ENST00000415757,NM_001243996.2;RYR3,stop_gained,p.Gln3750Ter,ENST00000389232,;RYR3,stop_gained,p.Gln3740Ter,ENST00000634418,;RYR3,upstream_gene_variant,,ENST00000638145,;RYR3,3_prime_UTR_variant,,ENST00000635790,;RYR3,downstream_gene_variant,,ENST00000558060,;	T	ENST00000634891	Transcript	stop_gained	11352/15591	11251/14613	3751/4870	Q/*	Cag/Tag		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4			85/104		Pfam_domain:PF08454,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	84	33827204	33827204	C	T	1	0	0	0	0	0	1	0	0	14030	840	29	3		3	RYR3	15	33827204	Nonsense_Mutation	SNP	C	C3N-01842_TP	10254	33827204	68163985	316	28170											
SPTBN5	0	.	GRCh38	chr15	41886219	41886219	+	Missense_Mutation	SNP	C	C	A																															gcggaagatggtgaatgctgCcagtagctgccgcatggcgg																								novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1036G>T	p.Ala346Ser	p.A346S	ENST00000320955	7/68	233	183	50	261	261	0	strelka-varscan-mutect	SPTBN5,missense_variant,p.Ala346Ser,ENST00000320955,NM_016642.3;	A	ENST00000320955	Transcript	missense_variant	1264/11725	1036/11025	346/3674	A/S	Gca/Tca		1		-1	SPTBN5	HGNC	HGNC:15680	protein_coding	YES	CCDS61599.1	ENSP00000317790	Q9NRC6		UPI0000E59BE4	NM_016642.3	tolerated(0.11)		7/68		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF265,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		rs1394708983	.												A	3	1	84	41886219	41886219	C	A	1	0	0	0	0	1	0	0	0	15478	739	26	2		2	SPTBN5	15	41886219	Missense_Mutation	SNP	C	C3N-01842_TP	8059015	41886219	60104970	317	28171	595	2									
SPTBN5	0	.	GRCh38	chr15	41886220	41886220	+	Silent	SNP	C	C	G																															cggaagatggtgaatgctgcCagtagctgccgcatggcggg																								rs751791317		C3N-01842_TP	C3N-01842_NB	C	C																c.1035G>C	p.=	p.L345L	ENST00000320955	7/68	234	187	47	260	260	0	strelka-varscan-mutect	SPTBN5,synonymous_variant,p.=,ENST00000320955,NM_016642.3;	G	ENST00000320955	Transcript	synonymous_variant	1263/11725	1035/11025	345/3674	L	ctG/ctC	rs751791317	1		-1	SPTBN5	HGNC	HGNC:15680	protein_coding	YES	CCDS61599.1	ENSP00000317790	Q9NRC6		UPI0000E59BE4	NM_016642.3			7/68		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF265,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	LOW	1	SNV	1			1										PASS		rs751791317	.												G	2	3	84	41886220	41886220	C	G	1	0	0	0	0	0	0	0	1	15478	581	21	4		4	SPTBN5	15	41886220	Silent	SNP	C	C3N-01842_TP	1	41886220	60104969	318	28172	595	2									
CDAN1	0	.	GRCh38	chr15	42730761	42730761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgcacatccaggaccggagGgacctgggagggccagagct	9	3	16	13	2	0	1	0	0	0	1	1	5	1	5	5	5	1	2	5	5	0	0	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.2011C>T	p.Pro671Ser	p.P671S	ENST00000356231	14/28	275	212	63	270	270	0	strelka-varscan-mutect	CDAN1,missense_variant,p.Pro671Ser,ENST00000356231,NM_138477.2;CTD-2036P10.6,downstream_gene_variant,,ENST00000617465,;CDAN1,missense_variant,p.Pro2Ser,ENST00000562465,;	A	ENST00000356231	Transcript	missense_variant	2035/4637	2011/3684	671/1227	P/S	Cct/Tct		1		-1	CDAN1	HGNC	HGNC:1713	protein_coding	YES	CCDS32209.1	ENSP00000348564	Q8IWY9		UPI0000229BCB	NM_138477.2	tolerated(0.4)		14/28		hmmpanther:PTHR28678																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	42730761	42730761	G	A	1	0	0	0	0	1	0	0	0	2757	1246	43	3		3	CDAN1	15	42730761	Missense_Mutation	SNP	G	C3N-01842_TP	844541	42730761	59260428	319	28173											
WDR72	0	.	GRCh38	chr15	53597223	53597223	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtatctttcccaaactctTcatgtgttgttgaacttccg	7	16	8	10	1	3	1	1	1	2	0	5	1	5	1	2	1	2	3	2	1	3	6	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.3004A>T	p.Lys1002Ter	p.K1002*	ENST00000396328	18/20	266	210	56	260	260	0	strelka-varscan-mutect	WDR72,stop_gained,p.Lys1002Ter,ENST00000396328,;WDR72,stop_gained,p.Lys999Ter,ENST00000557913,;WDR72,stop_gained,p.Lys1002Ter,ENST00000360509,NM_182758.3;WDR72,stop_gained,p.Lys1012Ter,ENST00000559418,;	A	ENST00000396328	Transcript	stop_gained	3244/7507	3004/3309	1002/1102	K/*	Aag/Tag		1		-1	WDR72	HGNC	HGNC:26790	protein_coding	YES	CCDS10151.1	ENSP00000379619	Q3MJ13		UPI00001D777D				18/20																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	84	53597223	53597223	T	A	1	0	0	0	0	0	1	0	0	17878	1792	62	4		4	WDR72	15	53597223	Nonsense_Mutation	SNP	T	C3N-01842_TP	10866462	53597223	48393966	320	28174											
UNC13C	0	.	GRCh38	chr15	54015243	54015243	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccccacccaaatcatggcaTagtcgattaagcattgacct	12	9	7	13	1	1	1	1	1	0	0	2	2	1	1	4	1	1	2	4	1	3	3	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.2340T>G	p.His780Gln	p.H780Q	ENST00000260323	1/32	382	302	80	372	371	1	strelka-varscan-mutect	UNC13C,missense_variant,p.His780Gln,ENST00000260323,NM_001080534.1;	G	ENST00000260323	Transcript	missense_variant	2340/12946	2340/6645	780/2214	H/Q	caT/caG		1		1	UNC13C	HGNC	HGNC:23149	protein_coding	YES	CCDS45264.1	ENSP00000260323	Q8NB66		UPI0000DD82AB	NM_001080534.1	deleterious_low_confidence(0.04)		1/32		hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	84	54015243	54015243	T	G	1	0	0	0	0	1	0	0	0	17510	1403	49	5		5	UNC13C	15	54015243	Missense_Mutation	SNP	T	C3N-01842_TP	418020	54015243	47975946	321	28175											
LIPC	0	.	GRCh38	chr15	58563558	58563558	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttatcacgctggatgTggatatcggcgagctgatca	8	13	11	9	3	3	1	2	1	1	0	4	4	3	3	0	3	1	2	0	3	2	3	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.1223T>C	p.Val408Ala	p.V408A	ENST00000299022	8/9	546	415	131	534	534	0	strelka-varscan-mutect	LIPC,missense_variant,p.Val408Ala,ENST00000414170,;LIPC,missense_variant,p.Val408Ala,ENST00000299022,NM_000236.2;LIPC,missense_variant,p.Val408Ala,ENST00000356113,;LIPC,missense_variant,p.Val347Ala,ENST00000433326,;LIPC,non_coding_transcript_exon_variant,,ENST00000559845,;	C	ENST00000299022	Transcript	missense_variant	1458/2751	1223/1500	408/499	V/A	gTg/gCg		1		1	LIPC	HGNC	HGNC:6619	protein_coding	YES	CCDS10166.1	ENSP00000299022	P11150		UPI000013E54D	NM_000236.2	tolerated(0.94)		8/9		PROSITE_profiles:PS50095,hmmpanther:PTHR11610:SF2,hmmpanther:PTHR11610,PIRSF_domain:PIRSF000865,Pfam_domain:PF01477,Gene3D:2.60.60.20,SMART_domains:SM00308,Superfamily_domains:SSF49723,Prints_domain:PR00821																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	84	58563558	58563558	T	C	1	0	0	0	0	1	0	0	0	8741	1696	59	5		5	LIPC	15	58563558	Missense_Mutation	SNP	T	C3N-01842_TP	4548315	58563558	43427631	322	28176											
ZNF609	0	.	GRCh38	chr15	64499732	64499732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactagcaaacccactccaGggacttccctgttcactcca	11	8	5	17	0	1	0	1	0	0	0	4	1	4	1	4	1	2	2	4	1	2	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.313G>T	p.Gly105Trp	p.G105W	ENST00000326648	1/9	544	419	125	580	576	4	strelka-varscan-mutect	ZNF609,missense_variant,p.Gly105Trp,ENST00000326648,NM_015042.1;ZNF609,missense_variant,p.Gly105Trp,ENST00000416172,;ZNF609,upstream_gene_variant,,ENST00000558680,;	T	ENST00000326648	Transcript	missense_variant	441/8746	313/4236	105/1411	G/W	Ggg/Tgg		1		1	ZNF609	HGNC	HGNC:29003	protein_coding	YES	CCDS32270.1	ENSP00000316527	O15014		UPI00001D7783	NM_015042.1	deleterious(0.02)		1/9		hmmpanther:PTHR21564:SF3,hmmpanther:PTHR21564																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	84	64499732	64499732	G	T	1	0	0	0	0	1	0	0	0	18610	1000	35	2		2	ZNF609	15	64499732	Missense_Mutation	SNP	G	C3N-01842_TP	5936174	64499732	37491457	323	28177											
ZNF609	0	.	GRCh38	chr15	64675904	64675904	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccagagcttagagcagcAgcagcggggagtggacaaga	13	3	16	9	2	0	3	0	0	0	3	0	5	0	5	1	3	5	4	1	3	2	1	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.3050A>T	p.Gln1017Leu	p.Q1017L	ENST00000326648	4/9	355	272	83	402	402	0	strelka-varscan-mutect	ZNF609,missense_variant,p.Gln1017Leu,ENST00000326648,NM_015042.1;RNU6-549P,downstream_gene_variant,,ENST00000384433,;ZNF609,downstream_gene_variant,,ENST00000559364,;	T	ENST00000326648	Transcript	missense_variant	3178/8746	3050/4236	1017/1411	Q/L	cAg/cTg		1		1	ZNF609	HGNC	HGNC:29003	protein_coding	YES	CCDS32270.1	ENSP00000316527	O15014		UPI00001D7783	NM_015042.1	tolerated(0.06)		4/9		Low_complexity_(Seg):seg,hmmpanther:PTHR21564:SF3,hmmpanther:PTHR21564																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	84	64675904	64675904	A	T	1	0	0	0	0	1	0	0	0	18610	188	7	4		4	ZNF609	15	64675904	Missense_Mutation	SNP	A	C3N-01842_TP	176172	64675904	37315285	324	28178											
DPP8	0	.	GRCh38	chr15	65456351	65456351	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatacttgactcctttaaaCcgattattcaccaactgcac	14	12	3	12	1	1	1	1	1	0	0	2	2	2	1	3	0	4	1	3	0	6	6	rs574744033		C3N-01842_TP	C3N-01842_NB	C	C																c.2040G>T	p.=	p.R680R	ENST00000341861	16/20	258	207	51	199	199	0	strelka-varscan-mutect	DPP8,synonymous_variant,p.=,ENST00000341861,NM_197960.2;DPP8,synonymous_variant,p.=,ENST00000300141,NM_130434.3;DPP8,synonymous_variant,p.=,ENST00000321147,NM_197961.2;DPP8,synonymous_variant,p.=,ENST00000559233,;DPP8,synonymous_variant,p.=,ENST00000558559,;DPP8,intron_variant,,ENST00000358939,NM_017743.4;DPP8,intron_variant,,ENST00000558786,;DPP8,non_coding_transcript_exon_variant,,ENST00000558363,;DPP8,upstream_gene_variant,,ENST00000560048,;DPP8,synonymous_variant,p.=,ENST00000395652,;DPP8,non_coding_transcript_exon_variant,,ENST00000560597,;RP11-349G13.3,upstream_gene_variant,,ENST00000605455,;	A	ENST00000341861	Transcript	synonymous_variant	3621/8699	2040/2697	680/898	R	cgG/cgT	rs574744033	1		-1	DPP8	HGNC	HGNC:16490	protein_coding	YES	CCDS10207.1	ENSP00000339208	Q6V1X1	A0A024R5Z6	UPI00001BFAFE	NM_197960.2			16/20		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF98,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	LOW	1	SNV	1			1										PASS		rs574744033	.												A	2	1	84	65456351	65456351	C	A	1	0	0	0	0	0	0	0	1	4547	494	18	2		2	DPP8	15	65456351	Silent	SNP	C	C3N-01842_TP	780447	65456351	36534838	325	28179											
HCN4	0	.	GRCh38	chr15	73322651	73322651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggcagagtgacgtgctGgccggggatggcaccatagg	8	5	18	10	3	0	2	0	1	0	1	0	4	0	3	3	6	1	3	3	6	1	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.3442C>A	p.Gln1148Lys	p.Q1148K	ENST00000261917	8/8	347	266	81	423	423	0	strelka-varscan-mutect	HCN4,missense_variant,p.Gln1148Lys,ENST00000261917,NM_005477.2;	T	ENST00000261917	Transcript	missense_variant	4436/7228	3442/3612	1148/1203	Q/K	Cag/Aag		1		-1	HCN4	HGNC	HGNC:16882	protein_coding	YES	CCDS10248.1	ENSP00000261917	Q9Y3Q4		UPI000003FFB5	NM_005477.2	deleterious_low_confidence(0.04)		8/8																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	73322651	73322651	G	T	1	0	0	0	0	1	0	0	0	6886	1357	47	2		2	HCN4	15	73322651	Missense_Mutation	SNP	G	C3N-01842_TP	7866300	73322651	28668538	326	28180											
CSK	0	.	GRCh38	chr15	74801809	74801809	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggtcagcgactttggTctcaccaaggaggcgtccag	9	7	13	12	2	2	0	2	0	1	0	4	2	3	1	3	4	1	0	3	4	2	1	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.1002T>A	p.=	p.G334G	ENST00000220003	11/13	232	197	35	233	232	1	strelka-varscan-mutect	CSK,synonymous_variant,p.=,ENST00000220003,NM_004383.2;CSK,synonymous_variant,p.=,ENST00000567571,;CSK,synonymous_variant,p.=,ENST00000439220,NM_001127190.1;CSK,downstream_gene_variant,,ENST00000569915,;CSK,downstream_gene_variant,,ENST00000567123,;CSK,downstream_gene_variant,,ENST00000569462,;CSK,non_coding_transcript_exon_variant,,ENST00000568329,;CSK,non_coding_transcript_exon_variant,,ENST00000564216,;CSK,non_coding_transcript_exon_variant,,ENST00000567135,;CSK,non_coding_transcript_exon_variant,,ENST00000563010,;CSK,non_coding_transcript_exon_variant,,ENST00000569321,;CSK,downstream_gene_variant,,ENST00000563894,;CSK,downstream_gene_variant,,ENST00000562066,;CSK,downstream_gene_variant,,ENST00000566464,;	A	ENST00000220003	Transcript	synonymous_variant	1731/2767	1002/1353	334/450	G	ggT/ggA		1		1	CSK	HGNC	HGNC:2444	protein_coding	YES	CCDS10269.1	ENSP00000220003	P41240	B2R6Q4	UPI0000128541	NM_004383.2			11/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF52,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	74801809	74801809	T	A	1	0	0	0	0	0	0	0	1	3744	1654	58	4		4	CSK	15	74801809	Silent	SNP	T	C3N-01842_TP	1479158	74801809	27189380	327	28181											
ANPEP	0	.	GRCh38	chr15	89806176	89806176	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccacaccacgcaggaccacCctgtgcccctggctgagggt	7	5	11	18	1	0	1	0	1	0	0	0	2	0	2	6	3	1	2	6	3	0	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.408G>T	p.Arg136Ser	p.R136S	ENST00000300060	2/21	207	171	36	241	241	0	strelka-varscan-mutect	ANPEP,missense_variant,p.Arg136Ser,ENST00000300060,NM_001150.2;ANPEP,downstream_gene_variant,,ENST00000559874,;ANPEP,downstream_gene_variant,,ENST00000560137,;ANPEP,upstream_gene_variant,,ENST00000558177,;ANPEP,upstream_gene_variant,,ENST00000560030,;ANPEP,upstream_gene_variant,,ENST00000560028,;ANPEP,upstream_gene_variant,,ENST00000559887,;	A	ENST00000300060	Transcript	missense_variant	722/3678	408/2904	136/967	R/S	agG/agT		1		-1	ANPEP	HGNC	HGNC:500	protein_coding	YES	CCDS10356.1	ENSP00000300060	P15144	A0A024RC61	UPI00001AECCF	NM_001150.2	tolerated(0.44)		2/21		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF172,Pfam_domain:PF01433,Superfamily_domains:0038696																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	89806176	89806176	C	A	1	0	0	0	0	1	0	0	0	817	622	22	2		2	ANPEP	15	89806176	Missense_Mutation	SNP	C	C3N-01842_TP	15004367	89806176	12185013	328	28182											
IGF1R	0	.	GRCh38	chr15	98707617	98707617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagctgaagcgcctggaGaactgcacggtgatcgaggg	10	5	16	10	3	0	3	0	2	0	1	1	5	0	3	1	3	5	3	1	3	2	0	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.150G>A	p.=	p.E50E	ENST00000268035	2/21	426	328	98	494	494	0	strelka-varscan-mutect	IGF1R,synonymous_variant,p.=,ENST00000268035,NM_000875.4;IGF1R,synonymous_variant,p.=,ENST00000558762,NM_001291858.1;IGF1R,upstream_gene_variant,,ENST00000558355,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;	A	ENST00000268035	Transcript	synonymous_variant	761/11803	150/4104	50/1367	E	gaG/gaA		1		1	IGF1R	HGNC	HGNC:5465	protein_coding	YES	CCDS10378.1	ENSP00000268035	P08069		UPI000012D3EA	NM_000875.4			2/21		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF106,PIRSF_domain:PIRSF000620,Gene3D:3.80.20.20,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	98707617	98707617	G	A	1	0	0	0	0	0	0	0	1	7477	933	33	3		3	IGF1R	15	98707617	Silent	SNP	G	C3N-01842_TP	8901441	98707617	3283572	329	28183											
CERS3	0	.	GRCh38	chr15	100455975	100455975	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgcaagatcatgagctgtAggttgaggaagatgtatgaa	13	10	13	5	0	1	5	1	3	0	2	1	6	1	6	1	2	2	5	1	2	5	3	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.917T>A	p.Leu306Gln	p.L306Q	ENST00000284382	12/13	299	241	58	235	235	0	strelka-varscan-mutect	CERS3,missense_variant,p.Leu306Gln,ENST00000284382,NM_178842.3,NM_001290343.1;CERS3,missense_variant,p.Leu306Gln,ENST00000394113,NM_001290341.1;CERS3,missense_variant,p.Leu306Gln,ENST00000538112,NM_001290342.1;CERS3,intron_variant,,ENST00000560944,;	T	ENST00000284382	Transcript	missense_variant	1341/3894	917/1152	306/383	L/Q	cTa/cAa		1		-1	CERS3	HGNC	HGNC:23752	protein_coding	YES	CCDS10384.1	ENSP00000284382	Q8IU89		UPI00001975AB	NM_178842.3,NM_001290343.1	tolerated(0.11)		12/13		Pfam_domain:PF03798,PIRSF_domain:PIRSF005225,PROSITE_profiles:PS50922,hmmpanther:PTHR12560,hmmpanther:PTHR12560:SF18,SMART_domains:SM00724,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	100455975	100455975	A	T	1	0	0	0	0	1	0	0	0	2997	420	15	4		4	CERS3	15	100455975	Missense_Mutation	SNP	A	C3N-01842_TP	1748358	100455975	1535214	330	28184											
CERS3	0	.	GRCh38	chr15	100484620	100484620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcctaaaccatctttccaCctggcgctccgtcaagttac	9	11	5	16	2	2	0	1	0	1	0	5	0	5	0	5	1	2	2	5	1	4	3	rs764980198		C3N-01842_TP	C3N-01842_NB	C	C																c.337G>T	p.Val113Leu	p.V113L	ENST00000284382	6/13	366	303	63	423	423	0	strelka-varscan-mutect	CERS3,missense_variant,p.Val113Leu,ENST00000284382,NM_178842.3,NM_001290343.1;CERS3,missense_variant,p.Val113Leu,ENST00000394113,NM_001290341.1;CERS3,missense_variant,p.Val113Leu,ENST00000538112,NM_001290342.1;CERS3,missense_variant,p.Val113Leu,ENST00000558884,;CERS3,intron_variant,,ENST00000560944,;	A	ENST00000284382	Transcript	missense_variant	761/3894	337/1152	113/383	V/L	Gtg/Ttg	rs764980198	1		-1	CERS3	HGNC	HGNC:23752	protein_coding	YES	CCDS10384.1	ENSP00000284382	Q8IU89		UPI00001975AB	NM_178842.3,NM_001290343.1	deleterious(0.01)		6/13		Gene3D:1.10.10.60,Pfam_domain:PF00046,PIRSF_domain:PIRSF005225,PROSITE_profiles:PS50071,hmmpanther:PTHR12560,hmmpanther:PTHR12560:SF18,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		rs764980198	.												A	3	1	84	100484620	100484620	C	A	1	0	0	0	0	1	0	0	0	2997	507	18	2		2	CERS3	15	100484620	Missense_Mutation	SNP	C	C3N-01842_TP	28645	100484620	1506569	331	28185											
IQCK	0	.	GRCh38	chr16	19733755	19733755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcagagcactattttccgGtttcccatttcaccatgatc	8	14	7	12	1	1	2	1	1	0	1	4	2	3	2	3	1	2	3	3	1	1	5	rs773201624		C3N-01842_TP	C3N-01842_NB	G	G																c.304G>T	p.Val102Phe	p.V102F	ENST00000320394	4/10	348	278	70	351	351	0	strelka-varscan-mutect	IQCK,missense_variant,p.Val102Phe,ENST00000320394,NM_153208.1;IQCK,missense_variant,p.Val102Phe,ENST00000564186,;IQCK,upstream_gene_variant,,ENST00000568387,;IQCK,missense_variant,p.Val102Phe,ENST00000308214,;IQCK,missense_variant,p.Gly80Val,ENST00000568126,;IQCK,missense_variant,p.Val100Phe,ENST00000561839,;IQCK,missense_variant,p.Gly80Val,ENST00000564955,;IQCK,missense_variant,p.Val96Phe,ENST00000561935,;IQCK,non_coding_transcript_exon_variant,,ENST00000568300,;IQCK,non_coding_transcript_exon_variant,,ENST00000564515,;IQCK,non_coding_transcript_exon_variant,,ENST00000566312,;	T	ENST00000320394	Transcript	missense_variant	1003/3482	304/864	102/287	V/F	Gtt/Ttt	rs773201624	1		1	IQCK	HGNC	HGNC:28556	protein_coding	YES	CCDS10580.1	ENSP00000324901	Q8N0W5		UPI0000072C5C	NM_153208.1	tolerated(0.22)		4/10		hmmpanther:PTHR34927																	MODERATE	1	SNV	1			1										PASS		rs773201624	.												T	3	4	84	19733755	19733755	G	T	1	0	0	0	0	1	0	0	0	7719	1261	44	2		2	IQCK	16	19733755	Missense_Mutation	SNP	G	C3N-01842_TP		19733755	70604590	332	28186											
ACSM2B	0	.	GRCh38	chr16	20555477	20555477	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcataaagatgagacCtaaagaagccaacaatttag	18	7	8	8	0	0	3	0	1	0	3	1	4	1	3	3	1	2	1	3	1	8	4	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.389-1G>T		p.X130_splice	ENST00000329697		178	149	29	154	154	0	strelka-varscan-mutect	ACSM2B,splice_acceptor_variant,,ENST00000329697,NM_001105069.1;ACSM2B,splice_acceptor_variant,,ENST00000414188,;ACSM2B,splice_acceptor_variant,,ENST00000565232,;ACSM2B,splice_acceptor_variant,,ENST00000567001,NM_182617.3;ACSM2B,splice_acceptor_variant,,ENST00000565322,;ACSM2B,splice_acceptor_variant,,ENST00000568882,;ACSM2B,upstream_gene_variant,,ENST00000567288,;ACSM2B,upstream_gene_variant,,ENST00000569163,;ACSM2B,downstream_gene_variant,,ENST00000566384,;ACSM2B,downstream_gene_variant,,ENST00000569344,;ACSM2B,splice_acceptor_variant,,ENST00000569364,;ACSM2B,splice_acceptor_variant,,ENST00000563943,;ACSM2B,splice_acceptor_variant,,ENST00000569327,;	A	ENST00000329697	Transcript	splice_acceptor_variant	-/2935	389/1734	130/577				1		-1	ACSM2B	HGNC	HGNC:30931	protein_coding	YES	CCDS10586.1	ENSP00000327453	Q68CK6		UPI00001AFAA7	NM_001105069.1				3/13																		HIGH	1	SNV	1			1										PASS		rs1383375446	.												A	5	1	84	20555477	20555477	C	A	1	0	0	0	0	0	0	1	0	226	695	24	2		2	ACSM2B	16	20555477	Splice_Site	SNP	C	C3N-01842_TP	821722	20555477	69782868	333	28187											
THUMPD1	0	.	GRCh38	chr16	20736976	20736976	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaccacctgtggattagaCgttggttttgtctgccccag	6	15	10	10	1	1	1	0	0	1	1	1	2	1	2	4	2	2	2	4	2	2	6	rs369783164		C3N-01842_TP	C3N-01842_NB	C	C																c.966G>C	p.=	p.T322T	ENST00000381337	4/5	338	270	68	363	363	0	strelka-varscan-mutect	THUMPD1,synonymous_variant,p.=,ENST00000381337,NM_017736.4,NM_001304550.1;THUMPD1,synonymous_variant,p.=,ENST00000396083,;ACSM3,intron_variant,,ENST00000561584,;ACSM3,intron_variant,,ENST00000568235,;ACSM3,intron_variant,,ENST00000501740,;THUMPD1,synonymous_variant,p.=,ENST00000636554,;THUMPD1,non_coding_transcript_exon_variant,,ENST00000570231,;THUMPD1,downstream_gene_variant,,ENST00000565248,;THUMPD1,downstream_gene_variant,,ENST00000569768,;AC004381.8,downstream_gene_variant,,ENST00000637768,;	G	ENST00000381337	Transcript	synonymous_variant	1311/4122	966/1062	322/353	T	acG/acC	rs369783164	1		-1	THUMPD1	HGNC	HGNC:23807	protein_coding	YES	CCDS10588.1	ENSP00000370741	Q9NXG2	A0A024R388	UPI000007226C	NM_017736.4,NM_001304550.1			4/5																			LOW	1	SNV	1			1										PASS		rs369783164	.												G	2	3	84	20736976	20736976	C	G	1	0	0	0	0	0	0	0	1	16316	523	19	4		4	THUMPD1	16	20736976	Silent	SNP	C	C3N-01842_TP	181499	20736976	69601369	334	28188											
THUMPD1	0	.	GRCh38	chr16	20737833	20737833	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaatgtttctgcatattttTtcatatcttctaaaaaagcc	14	17	3	7	0	4	0	1	0	3	0	4	0	4	0	1	0	2	2	1	0	7	8	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.530A>T	p.Lys177Ile	p.K177I	ENST00000381337	3/5	388	314	74	330	329	1	strelka-varscan-mutect	THUMPD1,missense_variant,p.Lys177Ile,ENST00000381337,NM_017736.4,NM_001304550.1;THUMPD1,missense_variant,p.Lys177Ile,ENST00000396083,;ACSM3,intron_variant,,ENST00000561584,;ACSM3,intron_variant,,ENST00000568235,;ACSM3,intron_variant,,ENST00000501740,;THUMPD1,missense_variant,p.Lys177Ile,ENST00000636554,;THUMPD1,3_prime_UTR_variant,,ENST00000565248,;THUMPD1,non_coding_transcript_exon_variant,,ENST00000570231,;THUMPD1,downstream_gene_variant,,ENST00000569768,;AC004381.8,downstream_gene_variant,,ENST00000637768,;	A	ENST00000381337	Transcript	missense_variant	875/4122	530/1062	177/353	K/I	aAa/aTa		1		-1	THUMPD1	HGNC	HGNC:23807	protein_coding	YES	CCDS10588.1	ENSP00000370741	Q9NXG2	A0A024R388	UPI000007226C	NM_017736.4,NM_001304550.1	deleterious(0.01)		3/5		PROSITE_profiles:PS51165,hmmpanther:PTHR13452,hmmpanther:PTHR13452:SF10,Pfam_domain:PF02926,SMART_domains:SM00981,Superfamily_domains:SSF143437																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	20737833	20737833	T	A	1	0	0	0	0	1	0	0	0	16316	1841	64	4		4	THUMPD1	16	20737833	Missense_Mutation	SNP	T	C3N-01842_TP	857	20737833	69600512	335	28189											
VWA3A	0	.	GRCh38	chr16	22132968	22132968	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctgaacgtgtgtctcttCtacgtgggcgagccaaagat	9	10	12	10	3	2	2	0	1	2	1	3	3	2	2	1	1	4	1	1	1	3	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1941C>T	p.=	p.F647F	ENST00000389398	20/34	290	235	55	349	349	0	strelka-varscan-mutect	VWA3A,synonymous_variant,p.=,ENST00000389398,NM_173615.4;VWA3A,synonymous_variant,p.=,ENST00000568328,;VWA3A,synonymous_variant,p.=,ENST00000563389,;VWA3A,synonymous_variant,p.=,ENST00000299840,;VWA3A,non_coding_transcript_exon_variant,,ENST00000566668,;	T	ENST00000389398	Transcript	synonymous_variant	2037/4600	1941/3555	647/1184	F	ttC/ttT		1		1	VWA3A	HGNC	HGNC:27088	protein_coding	YES	CCDS45441.1	ENSP00000374049	A6NCI4		UPI0001663067	NM_173615.4			20/34		hmmpanther:PTHR10338:SF95,hmmpanther:PTHR10338,Superfamily_domains:SSF53300																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	84	22132968	22132968	C	T	1	0	0	0	0	0	0	0	1	17794	912	32	3		3	VWA3A	16	22132968	Silent	SNP	C	C3N-01842_TP	1395135	22132968	68205377	336	28190											
IL21R	0	.	GRCh38	chr16	27444706	27444706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgacccggtcatctttcaGacccagtcagagggtaggtg	9	9	13	10	1	4	3	3	1	1	2	4	3	4	3	2	3	0	1	2	3	1	2	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.672G>T	p.Gln224His	p.Q224H	ENST00000337929	6/9	33	22	11	42	42	0	strelka-varscan-mutect	IL21R,missense_variant,p.Gln224His,ENST00000337929,NM_181078.2;IL21R,missense_variant,p.Gln224His,ENST00000564089,NM_181079.4;IL21R,missense_variant,p.Gln224His,ENST00000395754,NM_021798.3;IL21R-AS1,downstream_gene_variant,,ENST00000563191,;IL21R,non_coding_transcript_exon_variant,,ENST00000564583,;IL21R,downstream_gene_variant,,ENST00000561953,;	T	ENST00000337929	Transcript	missense_variant	1145/4849	672/1617	224/538	Q/H	caG/caT		1		1	IL21R	HGNC	HGNC:6006	protein_coding	YES	CCDS10630.1	ENSP00000338010	Q9HBE5		UPI0000043CF0	NM_181078.2	tolerated(0.7)		6/9		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF7,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs1340404621	.												T	3	4	84	27444706	27444706	G	T	1	0	0	0	0	1	0	0	0	7574	933	33	2		2	IL21R	16	27444706	Missense_Mutation	SNP	G	C3N-01842_TP	5311738	27444706	62893639	337	28191											
ARMC5	0	.	GRCh38	chr16	31460000	31460000	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggaggcatactccctttggGtaagtgctccgcccccgttt	5	11	11	14	3	0	0	0	0	0	0	2	1	2	1	4	3	2	4	4	3	2	4	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.760+1G>T		p.X254_splice	ENST00000408912		327	260	67	373	373	0	strelka-varscan-mutect	ARMC5,splice_donor_variant,,ENST00000457010,NM_024742.2;ARMC5,splice_donor_variant,,ENST00000408912,NM_001288767.1;ARMC5,splice_donor_variant,,ENST00000268314,NM_001105247.1;ARMC5,splice_donor_variant,,ENST00000563544,NM_001301820.1;ARMC5,splice_donor_variant,,ENST00000538189,;ARMC5,splice_donor_variant,,ENST00000564900,;RP11-452L6.5,upstream_gene_variant,,ENST00000564629,;ARMC5,missense_variant,p.Gly3Val,ENST00000564514,;	T	ENST00000408912	Transcript	splice_donor_variant	-/3626	760/3093	254/1030				1		1	ARMC5	HGNC	HGNC:25781	protein_coding	YES	CCDS73874.1	ENSP00000386125		J3KQ26	UPI0001AE681E	NM_001288767.1				3/7																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	84	31460000	31460000	G	T	1	0	0	0	0	0	0	1	0	1095	1275	44	2		2	ARMC5	16	31460000	Splice_Site	SNP	G	C3N-01842_TP	4015294	31460000	58878345	338	28192											
SALL1	0	.	GRCh38	chr16	51137517	51137517	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgccgaccccgtcgtgcAggggtgctattccacatgtg	6	8	13	14	4	0	0	0	0	0	0	2	1	1	0	5	2	3	2	5	2	1	2	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.3570T>A	p.=	p.P1190P	ENST00000251020	3/3	181	160	21	209	208	1	varscan-mutect	SALL1,synonymous_variant,p.=,ENST00000440970,NM_001127892.1;SALL1,synonymous_variant,p.=,ENST00000251020,NM_002968.2;SALL1,synonymous_variant,p.=,ENST00000570206,;SALL1,3_prime_UTR_variant,,ENST00000566102,;	T	ENST00000251020	Transcript	synonymous_variant	3604/5146	3570/3975	1190/1324	P	ccT/ccA		1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2			3/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	84	51137517	51137517	A	T	1	0	0	0	0	0	0	0	1	14069	175	7	4		4	SALL1	16	51137517	Silent	SNP	A	C3N-01842_TP	19677517	51137517	39200828	339	28193											
ADGRG1	0	.	GRCh38	chr16	57656255	57656255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actctgcaatgtgtgttctgGgttgaagaccccacatgtga	9	12	11	9	0	2	3	0	2	2	1	2	3	2	3	2	1	1	3	2	1	2	2	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1047G>T	p.Trp349Cys	p.W349C	ENST00000568909	8/14	468	418	50	629	628	1	strelka-varscan-mutect	ADGRG1,missense_variant,p.Trp349Cys,ENST00000568909,NM_001290143.1;ADGRG1,missense_variant,p.Trp349Cys,ENST00000562631,NM_201525.3;ADGRG1,missense_variant,p.Trp349Cys,ENST00000388813,NM_001145772.2;ADGRG1,missense_variant,p.Trp354Cys,ENST00000456916,NM_001145773.2;ADGRG1,missense_variant,p.Trp349Cys,ENST00000562558,NM_201524.3;ADGRG1,missense_variant,p.Trp349Cys,ENST00000568908,NM_001145770.2;ADGRG1,missense_variant,p.Trp349Cys,ENST00000540164,NM_001290144.1,NM_001145774.2;ADGRG1,missense_variant,p.Trp349Cys,ENST00000567835,NM_001290142.1,NM_005682.6,NM_001145771.2;ADGRG1,intron_variant,,ENST00000565391,;ADGRG1,downstream_gene_variant,,ENST00000561988,;ADGRG1,downstream_gene_variant,,ENST00000566271,;ADGRG1,downstream_gene_variant,,ENST00000561833,;ADGRG1,downstream_gene_variant,,ENST00000566169,;ADGRG1,downstream_gene_variant,,ENST00000569101,;ADGRG1,downstream_gene_variant,,ENST00000562467,;ADGRG1,downstream_gene_variant,,ENST00000567154,;ADGRG1,downstream_gene_variant,,ENST00000568234,;ADGRG1,downstream_gene_variant,,ENST00000561969,;ADGRG1,downstream_gene_variant,,ENST00000567915,;ADGRG1,downstream_gene_variant,,ENST00000565314,;ADGRG1,downstream_gene_variant,,ENST00000563862,;ADGRG1,downstream_gene_variant,,ENST00000561696,;ADGRG1,downstream_gene_variant,,ENST00000566164,;ADGRG1,downstream_gene_variant,,ENST00000567702,;ADGRG1,downstream_gene_variant,,ENST00000563445,;ADGRG1,downstream_gene_variant,,ENST00000565770,;ADGRG1,downstream_gene_variant,,ENST00000568791,;ADGRG1,downstream_gene_variant,,ENST00000563414,;ADGRG1,downstream_gene_variant,,ENST00000569494,;ADGRG1,downstream_gene_variant,,ENST00000561782,;ADGRG1,downstream_gene_variant,,ENST00000566123,;ADGRG1,downstream_gene_variant,,ENST00000569154,;ADGRG1,downstream_gene_variant,,ENST00000564729,;ADGRG1,downstream_gene_variant,,ENST00000565976,;ADGRG1,downstream_gene_variant,,ENST00000567553,;ADGRG1,downstream_gene_variant,,ENST00000566508,;ADGRG1,downstream_gene_variant,,ENST00000563548,;ADGRG1,downstream_gene_variant,,ENST00000563374,;ADGRG1,downstream_gene_variant,,ENST00000565013,;ADGRG1,downstream_gene_variant,,ENST00000567397,;ADGRG1,downstream_gene_variant,,ENST00000565587,;ADGRG1,downstream_gene_variant,,ENST00000568074,;ADGRG1,downstream_gene_variant,,ENST00000569372,;ADGRG1,downstream_gene_variant,,ENST00000565338,;ADGRG1,downstream_gene_variant,,ENST00000568531,;ADGRG1,downstream_gene_variant,,ENST00000564103,;ADGRG1,downstream_gene_variant,,ENST00000566778,;ADGRG1,downstream_gene_variant,,ENST00000568618,;ADGRG1,downstream_gene_variant,,ENST00000570044,;ADGRG1,downstream_gene_variant,,ENST00000568979,;ADGRG1,downstream_gene_variant,,ENST00000564338,;ADGRG1,downstream_gene_variant,,ENST00000566187,;ADGRG1,downstream_gene_variant,,ENST00000568157,;ADGRG1,downstream_gene_variant,,ENST00000564722,;ADGRG1,downstream_gene_variant,,ENST00000564360,;ADGRG1,downstream_gene_variant,,ENST00000569158,;ADGRG1,downstream_gene_variant,,ENST00000562003,;ADGRG1,downstream_gene_variant,,ENST00000562414,;ADGRG1,downstream_gene_variant,,ENST00000562682,;ADGRG1,downstream_gene_variant,,ENST00000569531,;ADGRG1,downstream_gene_variant,,ENST00000564912,;ADGRG1,downstream_gene_variant,,ENST00000566888,;ADGRG1,downstream_gene_variant,,ENST00000569132,;ADGRG1,downstream_gene_variant,,ENST00000569992,;ADGRG1,downstream_gene_variant,,ENST00000568700,;ADGRG1,downstream_gene_variant,,ENST00000562673,;ADGRG1,downstream_gene_variant,,ENST00000562608,;ADGRG1,downstream_gene_variant,,ENST00000561872,;ADGRG1,downstream_gene_variant,,ENST00000562101,;ADGRG1,3_prime_UTR_variant,,ENST00000564907,;ADGRG1,3_prime_UTR_variant,,ENST00000565539,;ADGRG1,downstream_gene_variant,,ENST00000568645,;ADGRG1,downstream_gene_variant,,ENST00000563007,;ADGRG1,downstream_gene_variant,,ENST00000565505,;	T	ENST00000568909	Transcript	missense_variant	1221/4254	1047/2082	349/693	W/C	tgG/tgT		1		1	ADGRG1	HGNC	HGNC:4512	protein_coding	YES	CCDS32460.1	ENSP00000455215	Q9Y653	A0A024R6U7	UPI0000047817	NM_001290143.1	deleterious(0)		8/14		PROSITE_profiles:PS50221,hmmpanther:PTHR12011:SF318,hmmpanther:PTHR12011,Pfam_domain:PF01825,SMART_domains:SM00303,Prints_domain:PR01422																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	84	57656255	57656255	G	T	1	0	0	0	0	1	0	0	0	368	1241	43	2		2	ADGRG1	16	57656255	Missense_Mutation	SNP	G	C3N-01842_TP	6518738	57656255	32682090	340	28194											
CDH8	0	.	GRCh38	chr16	61820955	61820955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttataatgccatcctgggCctgggcatcagaagtgattt	9	12	10	10	0	1	2	1	1	0	1	2	2	2	2	4	2	1	1	4	2	3	3	rs574584035		C3N-01842_TP	C3N-01842_NB	C	C																c.994G>T	p.Ala332Ser	p.A332S	ENST00000577390	6/12	119	84	35	113	113	0	strelka-varscan-mutect	CDH8,missense_variant,p.Ala332Ser,ENST00000577390,NM_001796.4;CDH8,missense_variant,p.Ala332Ser,ENST00000577730,;CDH8,missense_variant,p.Ala332Ser,ENST00000584337,;CDH8,missense_variant,p.Ala332Ser,ENST00000299345,;CDH8,missense_variant,p.Ala332Ser,ENST00000583382,;CDH8,missense_variant,p.Ala332Ser,ENST00000585315,;CDH8,upstream_gene_variant,,ENST00000582242,;	A	ENST00000577390	Transcript	missense_variant	1949/9721	994/2400	332/799	A/S	Gcc/Tcc	rs574584035,COSM4671009	1		-1	CDH8	HGNC	HGNC:1767	protein_coding	YES	CCDS10802.1	ENSP00000462701	P55286		UPI0000126D9F	NM_001796.4	tolerated(0.1)		6/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF273,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs574584035	.												A	3	1	84	61820955	61820955	C	A	1	0	0	0	0	1	0	0	0	2819	739	26	2		2	CDH8	16	61820955	Missense_Mutation	SNP	C	C3N-01842_TP	4164700	61820955	28517390	341	28195											
CDH5	0	.	GRCh38	chr16	66400913	66400914	+	Frame_Shift_Ins	INS	-	-	A																															ccgtggccgtgtgcaagtgcINSaacgagcagggcgagttcac																								novel		C3N-01842_TP	C3N-01842_NB	-	-																c.1736dupA	p.Asn579LysfsTer176	p.N579Kfs*176	ENST00000341529	11/12	705	542	163	928	928	0	sindel-varindel-pindel	CDH5,frameshift_variant,p.Asn579LysfsTer176,ENST00000341529,NM_001795.3;CDH5,frameshift_variant,p.Asn464LysfsTer176,ENST00000614547,;CDH5,frameshift_variant,p.Asn18LysfsTer176,ENST00000539168,;CDH5,3_prime_UTR_variant,,ENST00000565334,;	A	ENST00000341529	Transcript	frameshift_variant	1882-1883/4120	1734-1735/2355	578-579/784	-/X	-/A		1		1	CDH5	HGNC	HGNC:1764	protein_coding	YES	CCDS10804.1	ENSP00000344115	P33151		UPI000016B272	NM_001795.3			11/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF89,hmmpanther:PTHR24027,Gene3D:2.60.40.60,SMART_domains:SM00112																	HIGH	1	insertion	1	2		1										PASS		.	.												A	7	5	84	66400913	66400913	-	A	1	0	1	1	0	0	0	0	0	2816	718	25	0		0	CDH5	16	66400913	Frame_Shift_Ins	INS	-	C3N-01842_TP	4579958	66400913	23937432	342	28196											
PMFBP1	0	.	GRCh38	chr16	72124817	72124817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaggcggccatctcctcctGgaactccctgagctgctcct	6	10	9	16	1	1	1	0	1	1	0	5	2	4	2	5	3	3	2	5	3	2	1			C3N-01842_TP	C3N-01842_NB	G	G																c.2539C>A	p.Gln847Lys	p.Q847K	ENST00000237353	17/21	154	125	29	221	220	1	strelka-varscan-mutect	PMFBP1,missense_variant,p.Gln852Lys,ENST00000537465,;PMFBP1,missense_variant,p.Gln847Lys,ENST00000237353,NM_031293.2;PMFBP1,missense_variant,p.Gln702Lys,ENST00000355636,NM_001160213.1;PMFBP1,missense_variant,p.Gln13Lys,ENST00000537792,;PMFBP1,3_prime_UTR_variant,,ENST00000379073,;PMFBP1,downstream_gene_variant,,ENST00000537392,;	T	ENST00000237353	Transcript	missense_variant	2801/3527	2539/3024	847/1007	Q/K	Cag/Aag	COSM1287267	1		-1	PMFBP1	HGNC	HGNC:17728	protein_coding	YES	CCDS32483.1	ENSP00000237353	Q8TBY8		UPI0000141554	NM_031293.2	tolerated(0.51)		17/21		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18881,hmmpanther:PTHR18881:SF2											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	84	72124817	72124817	G	T	1	0	0	0	0	1	0	0	0	12241	1357	47	2		2	PMFBP1	16	72124817	Missense_Mutation	SNP	G	C3N-01842_TP	5723904	72124817	18213528	343	28197											
KIAA0513	0	.	GRCh38	chr16	85081375	85081375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccattgtgagaggacaaaGcgatctcccactaccaggta	12	8	10	11	1	1	1	0	1	1	1	3	4	2	2	3	2	2	1	3	2	3	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.963G>T	p.Lys321Asn	p.K321N	ENST00000566428	9/13	367	322	45	473	473	0	strelka-varscan-mutect	KIAA0513,missense_variant,p.Lys321Asn,ENST00000566428,NM_001286565.1;KIAA0513,missense_variant,p.Lys321Asn,ENST00000258180,NM_014732.3;KIAA0513,missense_variant,p.Lys321Asn,ENST00000538274,NM_001286566.1;KIAA0513,missense_variant,p.Lys118Asn,ENST00000562580,;KIAA0513,intron_variant,,ENST00000562564,;KIAA0513,downstream_gene_variant,,ENST00000567328,NM_001297766.1;	T	ENST00000566428	Transcript	missense_variant	1594/7772	963/1236	321/411	K/N	aaG/aaT		1		1	KIAA0513	HGNC	HGNC:29058	protein_coding	YES	CCDS32499.1	ENSP00000457408	O60268		UPI0000139A26	NM_001286565.1	deleterious(0.03)		9/13		hmmpanther:PTHR13663,hmmpanther:PTHR13663:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	85081375	85081375	G	T	1	0	0	0	0	1	0	0	0	8087	962	34	2		2	KIAA0513	16	85081375	Missense_Mutation	SNP	G	C3N-01842_TP	12956558	85081375	5256970	344	28198											
FANCA	0	.	GRCh38	chr16	89811040	89811040	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatacccacgggaaccccCagccttgaggcttgatcctg	10	7	10	14	1	0	3	0	2	0	1	1	4	1	4	5	2	3	1	5	2	3	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.315G>T	p.=	p.L105L	ENST00000389301	4/43	646	469	177	877	873	4	strelka-varscan-mutect	FANCA,synonymous_variant,p.=,ENST00000389301,NM_000135.2;FANCA,synonymous_variant,p.=,ENST00000568369,NM_001286167.1;FANCA,synonymous_variant,p.=,ENST00000563673,;FANCA,synonymous_variant,p.=,ENST00000389302,NM_001018112.1;FANCA,synonymous_variant,p.=,ENST00000534992,;FANCA,synonymous_variant,p.=,ENST00000543736,;FANCA,missense_variant,p.Gly101Trp,ENST00000563513,;FANCA,synonymous_variant,p.=,ENST00000565582,;FANCA,3_prime_UTR_variant,,ENST00000567943,;FANCA,non_coding_transcript_exon_variant,,ENST00000566889,;FANCA,non_coding_transcript_exon_variant,,ENST00000567883,;FANCA,upstream_gene_variant,,ENST00000567621,;	A	ENST00000389301	Transcript	synonymous_variant	346/5451	315/4368	105/1455	L	ctG/ctT		1		-1	FANCA	HGNC	HGNC:3582	protein_coding	YES	CCDS32515.1	ENSP00000373952	O15360		UPI0000520A1A	NM_000135.2			4/43		hmmpanther:PTHR12047,hmmpanther:PTHR12047:SF4																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	89811040	89811040	C	A	1	0	0	0	0	0	0	0	1	5521	581	21	2		2	FANCA	16	89811040	Silent	SNP	C	C3N-01842_TP	4729665	89811040	527305	345	28199											
TP53	0	.	GRCh38	chr17	7676096	7676096	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacagaagatgacaggggCcaggagggggctggtgcagg	10	3	22	6	0	0	3	0	1	0	2	0	5	0	5	1	8	1	2	1	8	1	0			C3N-01842_TP	C3N-01842_NB	C	C																c.273G>A	p.Trp91Ter	p.W91*	ENST00000269305	4/11	177	126	51	296	296	0	strelka-varscan-mutect	TP53,stop_gained,p.Trp91Ter,ENST00000617185,NM_001126114.2;TP53,stop_gained,p.Trp91Ter,ENST00000420246,;TP53,stop_gained,p.Trp52Ter,ENST00000622645,NM_001276696.1;TP53,stop_gained,p.Trp52Ter,ENST00000610292,NM_001126118.1;TP53,stop_gained,p.Trp91Ter,ENST00000455263,NM_001126113.2;TP53,stop_gained,p.Trp52Ter,ENST00000610538,NM_001276695.1;TP53,stop_gained,p.Trp91Ter,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,stop_gained,p.Trp52Ter,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,stop_gained,p.Trp91Ter,ENST00000445888,;TP53,stop_gained,p.Trp52Ter,ENST00000619485,;TP53,stop_gained,p.Trp91Ter,ENST00000359597,;TP53,stop_gained,p.Trp91Ter,ENST00000615910,;TP53,stop_gained,p.Trp91Ter,ENST00000413465,;TP53,stop_gained,p.Trp91Ter,ENST00000508793,;TP53,stop_gained,p.Trp91Ter,ENST00000604348,;TP53,stop_gained,p.Trp91Ter,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000510385,NM_001126116.1;TP53,upstream_gene_variant,,ENST00000618944,NM_001276698.1;TP53,upstream_gene_variant,,ENST00000504290,NM_001126117.1;TP53,upstream_gene_variant,,ENST00000610623,NM_001276699.1;TP53,upstream_gene_variant,,ENST00000504937,NM_001126115.1;TP53,upstream_gene_variant,,ENST00000619186,NM_001276697.1;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,stop_gained,p.Trp52Ter,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	T	ENST00000269305	Transcript	stop_gained	463/2579	273/1182	91/393	W/*	tgG/tgA	CM065495,TP53_g.11504G>T,TP53_g.11504G>A,COSM1646881,COSM3958856,COSM44492,COSM4950188,COSM4950189,COSM4950190,COSM4950191,COSM4950192,COSM562611,COSM562612	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5			4/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6											0,0,0,1,1,1,1,1,1,1,1,1,1						HIGH	1	SNV	1		1,0,0,1,1,1,1,1,1,1,1,1,1	1										PASS		rs876660548	.												T	4	4	84	7676096	7676096	C	T	1	0	0	0	0	0	1	0	0	16859	740	26	3		3	TP53	17	7676096	Nonsense_Mutation	SNP	C	C3N-01842_TP		7676096	75581345	346	28200											
MFSD6L	0	.	GRCh38	chr17	8797365	8797365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttctcagccctttcagtCtgagtgttcctccctcatgg	5	15	8	13	0	4	1	3	1	2	0	7	2	6	1	3	1	1	1	3	1	0	3	rs146978905		C3N-01842_TP	C3N-01842_NB	C	C																c.1756G>T	p.Asp586Tyr	p.D586Y	ENST00000329805	1/1	49	40	9	41	41	0	strelka-varscan-mutect	MFSD6L,missense_variant,p.Asp586Tyr,ENST00000329805,NM_152599.3;	A	ENST00000329805	Transcript	missense_variant	1985/2188	1756/1761	586/586	D/Y	Gac/Tac	rs146978905	1		-1	MFSD6L	HGNC	HGNC:26656	protein_coding	YES	CCDS11146.1	ENSP00000330051	Q8IWD5		UPI0000141B5F	NM_152599.3	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR16172:SF22,hmmpanther:PTHR16172																	MODERATE	1	SNV				1										PASS		rs146978905	.												A	3	1	84	8797365	8797365	C	A	1	0	0	0	0	1	0	0	0	9494	913	32	2		2	MFSD6L	17	8797365	Missense_Mutation	SNP	C	C3N-01842_TP	1121269	8797365	74460076	347	28201											
MYH1	0	.	GRCh38	chr17	10501194	10501194	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctccttctccagcttctgCttcactcgctgcaggttgtc	3	16	7	15	1	4	0	1	0	3	0	8	0	4	0	2	1	3	5	2	1	0	5	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.3654G>A	p.=	p.K1218K	ENST00000226207	27/40	274	204	70	407	406	1	strelka-varscan-mutect	MYH1,synonymous_variant,p.=,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000226207	Transcript	synonymous_variant	3749/6024	3654/5820	1218/1939	K	aaG/aaA		1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3			27/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,Low_complexity_(Seg):seg																	LOW		SNV	5			1										PASS		.	.												T	2	4	84	10501194	10501194	C	T	1	0	0	0	0	0	0	0	1	10029	796	28	3		3	MYH1	17	10501194	Silent	SNP	C	C3N-01842_TP	1703829	10501194	72756247	348	28202											
MAPK7	0	.	GRCh38	chr17	19380860	19380860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgctgaacatcagtacttCatgactgagtatgtggccac	10	10	9	12	1	2	3	2	3	0	0	2	3	2	3	2	1	2	3	2	1	3	3			C3N-01842_TP	C3N-01842_NB	C	C																c.651C>T	p.=	p.F217F	ENST00000308406	4/7	162	102	60	249	249	0	strelka-varscan-mutect	MAPK7,synonymous_variant,p.=,ENST00000308406,NM_139033.2;MAPK7,synonymous_variant,p.=,ENST00000395604,NM_002749.3;MAPK7,synonymous_variant,p.=,ENST00000395602,NM_139034.2;MAPK7,synonymous_variant,p.=,ENST00000299612,NM_139032.2;MAPK7,synonymous_variant,p.=,ENST00000443215,;MAPK7,synonymous_variant,p.=,ENST00000482850,;MFAP4,downstream_gene_variant,,ENST00000395592,NM_001198695.1;MFAP4,downstream_gene_variant,,ENST00000497081,;MFAP4,downstream_gene_variant,,ENST00000299610,NM_002404.2;B9D1,upstream_gene_variant,,ENST00000477478,;B9D1,upstream_gene_variant,,ENST00000575403,NM_001243475.1;MAPK7,downstream_gene_variant,,ENST00000579284,;MAPK7,downstream_gene_variant,,ENST00000603493,;B9D1,upstream_gene_variant,,ENST00000487415,;MAPK7,intron_variant,,ENST00000571657,;MAPK7,intron_variant,,ENST00000573417,;MFAP4,downstream_gene_variant,,ENST00000574313,;MAPK7,downstream_gene_variant,,ENST00000572968,;B9D1,upstream_gene_variant,,ENST00000468679,;MAPK7,3_prime_UTR_variant,,ENST00000581260,;MAPK7,non_coding_transcript_exon_variant,,ENST00000570306,;MAPK7,non_coding_transcript_exon_variant,,ENST00000490660,;MAPK7,non_coding_transcript_exon_variant,,ENST00000572716,;MFAP4,downstream_gene_variant,,ENST00000571210,;B9D1,upstream_gene_variant,,ENST00000476298,;MAPK7,downstream_gene_variant,,ENST00000573466,;MAPK7,downstream_gene_variant,,ENST00000486905,;MAPK7,downstream_gene_variant,,ENST00000572853,;	T	ENST00000308406	Transcript	synonymous_variant	1037/3149	651/2451	217/816	F	ttC/ttT	COSM5385837	1		1	MAPK7	HGNC	HGNC:6880	protein_coding	YES	CCDS11206.1	ENSP00000311005	Q13164	A0A024QZ20	UPI000006FED0	NM_139033.2			4/7		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF230,SMART_domains:SM00220,Superfamily_domains:SSF56112											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	84	19380860	19380860	C	T	1	0	0	0	0	0	0	0	1	9206	825	29	3		3	MAPK7	17	19380860	Silent	SNP	C	C3N-01842_TP	8879666	19380860	63876581	349	28203											
CDRT15L2	0	.	GRCh38	chr17	20580452	20580452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatggaggcggagaccaggGcattcagactggactcctgt	10	7	14	10	1	1	2	1	0	0	2	2	5	2	4	2	5	0	1	2	5	0	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.569G>A	p.Gly190Asp	p.G190D	ENST00000399044	2/2	290	264	26	193	193	0	varscan-mutect	CDRT15L2,missense_variant,p.Gly190Asp,ENST00000399044,NM_001190790.1;RP11-434D2.12,upstream_gene_variant,,ENST00000580931,;ZSWIM5P2,downstream_gene_variant,,ENST00000420212,;	A	ENST00000399044	Transcript	missense_variant	589/1048	569/846	190/281	G/D	gGc/gAc		1		1	CDRT15L2	HGNC	HGNC:34075	protein_coding	YES	CCDS54096.1	ENSP00000382000	A8MXV6		UPI00001D7A81	NM_001190790.1	deleterious_low_confidence(0.01)		2/2		hmmpanther:PTHR16471,hmmpanther:PTHR16471:SF0,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	84	20580452	20580452	G	A	1	0	0	0	0	1	0	0	0	2881	1203	42	3		3	CDRT15L2	17	20580452	Missense_Mutation	SNP	G	C3N-01842_TP	1199592	20580452	62676989	350	28204											
MSL1	0	.	GRCh38	chr17	40122995	40122995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggagccggctgcagcccccGgcccaagtatcaggcggtgc	6	4	15	16	4	1	0	1	0	0	0	1	1	1	1	4	5	4	3	4	5	2	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.383G>T	p.Arg128Leu	p.R128L	ENST00000398532	1/9	226	178	48	279	279	0	strelka-varscan-mutect	MSL1,missense_variant,p.Arg128Leu,ENST00000398532,;MSL1,missense_variant,p.Arg128Leu,ENST00000578648,;MSL1,missense_variant,p.Arg128Leu,ENST00000577454,;MSL1,intron_variant,,ENST00000579565,NM_001012241.1;MSL1,upstream_gene_variant,,ENST00000582920,;MSL1,upstream_gene_variant,,ENST00000578826,;MSL1,upstream_gene_variant,,ENST00000582884,;	T	ENST00000398532	Transcript	missense_variant	698/4707	383/1845	128/614	R/L	cGg/cTg		1		1	MSL1	HGNC	HGNC:27905	protein_coding			ENSP00000381543	Q68DK7		UPI00001D79E6		deleterious_low_confidence(0)		1/9		hmmpanther:PTHR21656																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	84	40122995	40122995	G	T	1	0	0	0	0	1	0	0	0	9860	1116	39	1		1	MSL1	17	40122995	Missense_Mutation	SNP	G	C3N-01842_TP	19542543	40122995	43134446	351	28205											
HEXIM2	0	.	GRCh38	chr17	45169444	45169444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgccccatgggatctccCacccaggttccagtggggag	7	8	13	13	0	1	0	0	0	1	0	3	2	2	2	5	4	1	1	5	4	0	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.496C>A	p.His166Asn	p.H166N	ENST00000307275	4/4	320	253	67	334	334	0	strelka-varscan-mutect	HEXIM2,missense_variant,p.His166Asn,ENST00000307275,NM_001303438.1,NM_001303439.1,NM_001303437.1,NM_144608.2;HEXIM2,missense_variant,p.His166Asn,ENST00000592695,NM_001303440.1,NM_001303441.1;HEXIM2,missense_variant,p.His166Asn,ENST00000591576,NM_001303442.1,NM_001303444.1,NM_001303443.1;HEXIM2,missense_variant,p.His188Asn,ENST00000585340,NM_001303436.1;HEXIM2,downstream_gene_variant,,ENST00000589230,;HEXIM2,downstream_gene_variant,,ENST00000586681,;HEXIM2,downstream_gene_variant,,ENST00000593138,;HEXIM2,downstream_gene_variant,,ENST00000591070,;RP13-890H12.2,non_coding_transcript_exon_variant,,ENST00000589796,;RP13-890H12.2,downstream_gene_variant,,ENST00000589451,;	A	ENST00000307275	Transcript	missense_variant	932/1528	496/861	166/286	H/N	Cac/Aac		1		1	HEXIM2	HGNC	HGNC:28591	protein_coding	YES	CCDS11496.1	ENSP00000302276	Q96MH2		UPI00000730EA	NM_001303438.1,NM_001303439.1,NM_001303437.1,NM_144608.2	tolerated(0.18)		4/4		Pfam_domain:PF15313,hmmpanther:PTHR13469,hmmpanther:PTHR13469:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	84	45169444	45169444	C	A	1	0	0	0	0	1	0	0	0	6961	594	21	2		2	HEXIM2	17	45169444	Missense_Mutation	SNP	C	C3N-01842_TP	5046449	45169444	38087997	352	28206											
NSF	0	.	GRCh38	chr17	46728916	46728916	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctcttctcgttttactGaaaaaggcacctcctcaggt	9	12	8	12	1	3	1	1	1	2	0	5	1	4	1	2	3	1	3	2	3	3	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1890G>T	p.=	p.L630L	ENST00000398238	17/21	291	233	58	213	213	0	strelka-varscan-mutect	NSF,synonymous_variant,p.=,ENST00000398238,NM_006178.3;NSF,synonymous_variant,p.=,ENST00000575068,;NSF,synonymous_variant,p.=,ENST00000576346,;NSF,synonymous_variant,p.=,ENST00000465370,;	T	ENST00000398238	Transcript	synonymous_variant	1997/3983	1890/2235	630/744	L	ctG/ctT		1		1	NSF	HGNC	HGNC:8016	protein_coding	YES	CCDS42354.1	ENSP00000381293	P46459		UPI000006D238	NM_006178.3			17/21		Low_complexity_(Seg):seg,hmmpanther:PTHR23078,hmmpanther:PTHR23078:SF4,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	84	46728916	46728916	G	T	1	0	0	0	0	0	0	0	1	10730	1277	45	2		2	NSF	17	46728916	Silent	SNP	G	C3N-01842_TP	1559472	46728916	36528525	353	28207											
HOXB3	0	.	GRCh38	chr17	48551118	48551118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccccgccgccgccgccaCcgcccccgctgccaccactg	3	3	8	27	6	0	0	0	0	0	0	1	0	1	0	11	0	1	1	11	0	0	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.512G>T	p.Gly171Val	p.G171V	ENST00000470495	2/2	57	44	13	76	76	0	strelka-varscan-mutect	HOXB3,missense_variant,p.Gly171Val,ENST00000470495,;HOXB3,missense_variant,p.Gly171Val,ENST00000311626,NM_002146.4;HOXB3,missense_variant,p.Gly171Val,ENST00000498678,;HOXB3,missense_variant,p.Gly98Val,ENST00000472863,;HOXB3,missense_variant,p.Gly98Val,ENST00000489475,;HOXB3,missense_variant,p.Gly39Val,ENST00000460160,;HOXB3,missense_variant,p.Gly171Val,ENST00000476342,;HOXB3,missense_variant,p.Gly37Val,ENST00000490677,;HOXB3,downstream_gene_variant,,ENST00000465120,;HOXB3,downstream_gene_variant,,ENST00000471459,;HOXB-AS1,non_coding_transcript_exon_variant,,ENST00000435312,;HOXB-AS1,non_coding_transcript_exon_variant,,ENST00000502764,;HOXB-AS3,intron_variant,,ENST00000465846,;HOXB-AS1,downstream_gene_variant,,ENST00000508688,;HOXB3,downstream_gene_variant,,ENST00000478644,;	A	ENST00000470495	Transcript	missense_variant	1960/4208	512/1296	171/431	G/V	gGt/gTt		1		-1	HOXB3	HGNC	HGNC:5114	protein_coding	YES	CCDS11528.1	ENSP00000417207	P14651		UPI00001AEFBF		tolerated(0.33)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF10,hmmpanther:PTHR24326,Gene3D:1.10.10.60																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	48551118	48551118	C	A	1	0	0	0	0	1	0	0	0	7196	507	18	2		2	HOXB3	17	48551118	Missense_Mutation	SNP	C	C3N-01842_TP	1822202	48551118	34706323	354	28208											
MYCBPAP	0	.	GRCh38	chr17	50508565	50508565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgcgcgcccccgcgcgggGcaccggttgctgtggacgca	4	5	17	15	7	0	0	0	0	0	0	0	2	0	1	3	4	2	4	3	4	0	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.20G>T	p.Gly7Val	p.G7V	ENST00000323776	1/19	280	221	59	310	309	1	strelka-varscan-mutect	MYCBPAP,missense_variant,p.Gly7Val,ENST00000323776,NM_032133.4;MYCBPAP,missense_variant,p.Gly7Val,ENST00000419930,;MYCBPAP,missense_variant,p.Gly7Val,ENST00000452039,;MYCBPAP,5_prime_UTR_variant,,ENST00000436259,;RP11-94C24.6,upstream_gene_variant,,ENST00000502300,;MYCBPAP,non_coding_transcript_exon_variant,,ENST00000576179,;MYCBPAP,non_coding_transcript_exon_variant,,ENST00000470609,;MYCBPAP,upstream_gene_variant,,ENST00000437498,;MYCBPAP,upstream_gene_variant,,ENST00000458692,;	T	ENST00000323776	Transcript	missense_variant	182/3186	20/2955	7/984	G/V	gGc/gTc		1		1	MYCBPAP	HGNC	HGNC:19677	protein_coding	YES	CCDS32680.2	ENSP00000323184	Q8TBZ2	A0A140VK87	UPI0000E5A00B	NM_032133.4	tolerated_low_confidence(0.14)		1/19		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	50508565	50508565	G	T	1	0	0	0	0	1	0	0	0	10019	1203	42	2		2	MYCBPAP	17	50508565	Missense_Mutation	SNP	G	C3N-01842_TP	1957447	50508565	32748876	355	28209											
WFIKKN2	0	.	GRCh38	chr17	50839554	50839554	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggaccaagagctgcgTggcggcccgctacatggacg	8	6	16	11	4	0	1	0	0	0	1	0	3	0	3	2	4	3	2	2	4	2	1	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.266T>A	p.Val89Glu	p.V89E	ENST00000311378	2/2	193	143	50	210	210	0	strelka-varscan-mutect	WFIKKN2,missense_variant,p.Val89Glu,ENST00000311378,NM_175575.5;WFIKKN2,5_prime_UTR_variant,,ENST00000426127,;RP11-506D12.5,downstream_gene_variant,,ENST00000572491,;	A	ENST00000311378	Transcript	missense_variant	794/3588	266/1731	89/576	V/E	gTg/gAg		1		1	WFIKKN2	HGNC	HGNC:30916	protein_coding	YES	CCDS11575.1	ENSP00000311184	Q8TEU8		UPI000004139B	NM_175575.5	deleterious(0)		2/2		PROSITE_profiles:PS51390,hmmpanther:PTHR10083:SF87,hmmpanther:PTHR10083,Gene3D:4.10.75.10,Pfam_domain:PF00095,SMART_domains:SM00217																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	50839554	50839554	T	A	1	0	0	0	0	1	0	0	0	17916	1696	59	4		4	WFIKKN2	17	50839554	Missense_Mutation	SNP	T	C3N-01842_TP	330989	50839554	32417887	356	28210											
TSPOAP1	0	.	GRCh38	chr17	58324932	58324932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgatctgcctctgcagcCgcagcacctcccgctgggac	5	6	12	18	4	2	0	0	0	2	0	3	2	3	1	4	1	4	4	4	1	0	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.821G>A	p.Arg274Gln	p.R274Q	ENST00000343736	5/32	104	86	18	136	136	0	strelka-varscan-mutect	TSPOAP1,missense_variant,p.Arg214Gln,ENST00000268893,NM_024418.2;TSPOAP1,missense_variant,p.Arg274Gln,ENST00000343736,NM_001261835.1,NM_004758.3;TSPOAP1-AS1,upstream_gene_variant,,ENST00000579527,;TSPOAP1-AS1,upstream_gene_variant,,ENST00000580515,;TSPOAP1-AS1,upstream_gene_variant,,ENST00000578334,;TSPOAP1-AS1,upstream_gene_variant,,ENST00000580633,;TSPOAP1,upstream_gene_variant,,ENST00000583624,;	T	ENST00000343736	Transcript	missense_variant	985/5947	821/5574	274/1857	R/Q	cGg/cAg		1		-1	TSPOAP1	HGNC	HGNC:16831	protein_coding	YES	CCDS11605.1	ENSP00000345824	O95153		UPI000013D7E3	NM_001261835.1,NM_004758.3	deleterious(0)		5/32		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	58324932	58324932	C	T	1	0	0	0	0	1	0	0	0	17163	652	23	1		1	TSPOAP1	17	58324932	Missense_Mutation	SNP	C	C3N-01842_TP	7485378	58324932	24932509	357	28211											
HEATR6	0	.	GRCh38	chr17	60078838	60078838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggcgaaacccattgcctCgctcagggattgcttcccgc	8	8	11	14	3	1	1	1	0	0	1	3	3	2	2	3	2	3	2	3	2	1	3	rs201049194		C3N-01842_TP	C3N-01842_NB	C	C																c.77G>A	p.Arg26Gln	p.R26Q	ENST00000184956	1/20	279	210	69	329	327	2	strelka-varscan-mutect	HEATR6,missense_variant,p.Arg26Gln,ENST00000184956,NM_022070.4;HEATR6,missense_variant,p.Arg26Gln,ENST00000585976,;HEATR6,missense_variant,p.Arg26Gln,ENST00000593097,;HEATR6,missense_variant,p.Arg26Gln,ENST00000593228,;HEATR6,5_prime_UTR_variant,,ENST00000613428,;CTD-2319I12.2,upstream_gene_variant,,ENST00000589740,;WFDC21P,downstream_gene_variant,,ENST00000590346,;WFDC21P,downstream_gene_variant,,ENST00000588180,;WFDC21P,downstream_gene_variant,,ENST00000587298,;WFDC21P,downstream_gene_variant,,ENST00000590012,;WFDC21P,downstream_gene_variant,,ENST00000589987,;WFDC21P,downstream_gene_variant,,ENST00000592556,;WFDC21P,downstream_gene_variant,,ENST00000566140,;HEATR6,non_coding_transcript_exon_variant,,ENST00000585712,;HEATR6,missense_variant,p.Arg26Gln,ENST00000587003,;HEATR6,missense_variant,p.Arg26Gln,ENST00000592664,;HEATR6,non_coding_transcript_exon_variant,,ENST00000591074,;HEATR6,upstream_gene_variant,,ENST00000590587,;WFDC21P,downstream_gene_variant,,ENST00000589777,;	T	ENST00000184956	Transcript	missense_variant	94/3932	77/3546	26/1181	R/Q	cGa/cAa	rs201049194	1		-1	HEATR6	HGNC	HGNC:24076	protein_coding	YES	CCDS11623.1	ENSP00000184956	Q6AI08		UPI0000366C37	NM_022070.4	tolerated_low_confidence(0.76)		1/20		hmmpanther:PTHR13366																	MODERATE	1	SNV	1			1										PASS		rs201049194	.												T	3	4	84	60078838	60078838	C	T	1	0	0	0	0	1	0	0	0	6915	884	31	1		1	HEATR6	17	60078838	Missense_Mutation	SNP	C	C3N-01842_TP	1753906	60078838	23178603	358	28212											
PPM1D	0	.	GRCh38	chr17	60600463	60600463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcttctccgaccagggcGggaggaagtacatggaggac	9	6	16	10	3	2	0	0	0	2	0	3	5	2	4	2	5	1	1	2	5	2	2	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.49G>T	p.Gly17Trp	p.G17W	ENST00000305921	1/6	375	292	83	533	533	0	strelka-varscan-mutect	PPM1D,missense_variant,p.Gly17Trp,ENST00000305921,NM_003620.3;PPM1D,missense_variant,p.Gly17Trp,ENST00000629650,;PPM1D,upstream_gene_variant,,ENST00000590418,;PPM1D,missense_variant,p.Gly17Trp,ENST00000392995,;	T	ENST00000305921	Transcript	missense_variant	281/4778	49/1818	17/605	G/W	Ggg/Tgg		1		1	PPM1D	HGNC	HGNC:9277	protein_coding	YES	CCDS11625.1	ENSP00000306682	O15297	A0A0S2Z4M2	UPI0000130FE8	NM_003620.3	deleterious(0)		1/6		Gene3D:3.60.40.10,PROSITE_profiles:PS51746,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF359,SMART_domains:SM00332,Superfamily_domains:SSF81606																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	60600463	60600463	G	T	1	0	0	0	0	1	0	0	0	12447	1116	39	1		1	PPM1D	17	60600463	Missense_Mutation	SNP	G	C3N-01842_TP	521625	60600463	22656978	359	28213											
GH2	0	.	GRCh38	chr17	63880778	63880778	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccaccctcacccacatCagcgtttggatgccttcctc	6	10	8	17	1	2	0	2	0	0	0	4	1	3	1	5	2	3	1	5	2	0	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.450G>T	p.=	p.L150L	ENST00000332800	4/4	344	282	62	428	428	0	strelka-varscan-mutect	GH2,splice_region_variant,p.=,ENST00000456543,NM_022558.3;GH2,synonymous_variant,p.=,ENST00000332800,NM_022557.3;GH2,synonymous_variant,p.=,ENST00000423893,NM_002059.4;GH2,synonymous_variant,p.=,ENST00000449787,NM_022556.3;GH2,synonymous_variant,p.=,ENST00000622506,;CSH2,intron_variant,,ENST00000620751,;	A	ENST00000332800	Transcript	synonymous_variant	584/1138	450/771	150/256	L	ctG/ctT		1		-1	GH2	HGNC	HGNC:4262	protein_coding	YES	CCDS11648.1	ENSP00000333157	P01242		UPI000002B3EF	NM_022557.3			4/4		hmmpanther:PTHR11417:SF40,hmmpanther:PTHR11417,Gene3D:1.20.1250.10,Pfam_domain:PF00103,Superfamily_domains:SSF47266																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	63880778	63880778	C	A	1	0	0	0	0	0	0	0	1	6246	840	29	2		2	GH2	17	63880778	Silent	SNP	C	C3N-01842_TP	3280315	63880778	19376663	360	28214											
LRRC37A3	0	.	GRCh38	chr17	64859937	64859937	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcatgttagtgttttcCataaaaacattttcttcaaa	12	17	5	7	0	3	0	1	0	2	0	4	0	4	0	1	1	1	3	1	1	5	7	rs143533650		C3N-01842_TP	C3N-01842_NB	C	C																c.4209G>C	p.Met1403Ile	p.M1403I	ENST00000584306	11/14	721	575	146	647	647	0	strelka-varscan-mutect	LRRC37A3,missense_variant,p.Met1403Ile,ENST00000584306,NM_199340.3;LRRC37A3,missense_variant,p.Met1403Ile,ENST00000319651,;LRRC37A3,missense_variant,p.Met441Ile,ENST00000400877,;LRRC37A3,missense_variant,p.Met380Ile,ENST00000334962,;LRRC37A3,missense_variant,p.Met521Ile,ENST00000339474,NM_001303255.1;LRRC37A3,downstream_gene_variant,,ENST00000581368,;LRRC37A3,downstream_gene_variant,,ENST00000584788,;LRRC37A3,upstream_gene_variant,,ENST00000583510,;LRRC37A3,downstream_gene_variant,,ENST00000579305,;	G	ENST00000584306	Transcript	missense_variant	4740/5665	4209/4905	1403/1634	M/I	atG/atC	rs143533650	1		-1	LRRC37A3	HGNC	HGNC:32427	protein_coding	YES	CCDS32708.1	ENSP00000464535	O60309		UPI00005B2F0A	NM_199340.3	tolerated(0.23)		11/14		hmmpanther:PTHR23045,hmmpanther:PTHR23045:SF7																	MODERATE	1	SNV	1			1										PASS		rs143533650	.												G	3	3	84	64859937	64859937	C	G	1	0	0	0	0	1	0	0	0	8887	594	21	4		4	LRRC37A3	17	64859937	Missense_Mutation	SNP	C	C3N-01842_TP	979159	64859937	18397504	361	28215											
ABCA8	0	.	GRCh38	chr17	68922279	68922279	+	Frame_Shift_Del	DEL	T	T	-																															ttatcaggctttcctttataTtcttttgtaacatttctgat																								novel		C3N-01842_TP	C3N-01842_NB	T	T																c.1464delA	p.Glu488AspfsTer9	p.E488Dfs*9	ENST00000586539	12/40	118	93	25	91	91	0	sindel-varindel-pindel	ABCA8,frameshift_variant,p.Glu488AspfsTer9,ENST00000430352,NM_001288986.1;ABCA8,frameshift_variant,p.Glu488AspfsTer9,ENST00000269080,NM_007168.3;ABCA8,frameshift_variant,p.Glu488AspfsTer9,ENST00000586539,NM_001288985.1;ABCA8,frameshift_variant,p.Glu119AspfsTer9,ENST00000615593,;ABCA8,frameshift_variant,p.Glu136AspfsTer9,ENST00000589533,;ABCA8,non_coding_transcript_exon_variant,,ENST00000541225,;ABCA8,upstream_gene_variant,,ENST00000587206,;	-	ENST00000586539	Transcript	frameshift_variant	1653/5088	1464/4866	488/1621	E/X	gaA/ga		1		-1	ABCA8	HGNC	HGNC:38	protein_coding	YES	CCDS74139.1	ENSP00000467271	O94911		UPI0002065B1E	NM_001288985.1			12/40		Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF148,Superfamily_domains:SSF52540																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	84	68922279	68922279	T	-	1	0	1	0	1	0	0	0	0	42	1490	52	0		0	ABCA8	17	68922279	Frame_Shift_Del	DEL	T	C3N-01842_TP	4062342	68922279	14335162	362	28216											
FBF1	0	.	GRCh38	chr17	75925356	75925356	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccacttacctgacagacTgccggcgggactgccggccc	6	5	12	18	3	0	2	0	1	0	1	0	3	0	3	6	3	3	0	6	3	1	1	rs369975590		C3N-01842_TP	C3N-01842_NB	T	T																c.917A>C	p.Gln306Pro	p.Q306P	ENST00000627351	11/28	128	103	25	134	133	1	strelka-varscan-mutect	FBF1,missense_variant,p.Gln306Pro,ENST00000586717,NM_001319193.1;FBF1,missense_variant,p.Gln265Pro,ENST00000319129,;FBF1,missense_variant,p.Gln320Pro,ENST00000636174,;FBF1,missense_variant,p.Gln319Pro,ENST00000592193,;FBF1,missense_variant,p.Gln306Pro,ENST00000627351,NM_001080542.1;FBF1,non_coding_transcript_exon_variant,,ENST00000585990,;RP11-552F3.12,non_coding_transcript_exon_variant,,ENST00000593156,;FBF1,upstream_gene_variant,,ENST00000586838,;	G	ENST00000627351	Transcript	missense_variant	917/3402	917/3402	306/1133	Q/P	cAg/cCg	rs369975590	1		-1	FBF1	HGNC	HGNC:24674	protein_coding	YES	CCDS45779.1	ENSP00000486708	Q8TES7		UPI0000DD841F	NM_001080542.1	deleterious(0.04)		11/28		hmmpanther:PTHR33689,hmmpanther:PTHR33689:SF1																	MODERATE	1	SNV	5			1										PASS		rs369975590	.												G	3	3	84	75925356	75925356	T	G	1	0	0	0	0	1	0	0	0	5557	1580	55	5		5	FBF1	17	75925356	Missense_Mutation	SNP	T	C3N-01842_TP	7003077	75925356	7332085	363	28217											
RBFOX3	0	.	GRCh38	chr17	79103187	79103187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccgtccctctacgatcGtcccattcagcttctcccgg	4	14	6	17	4	3	0	1	0	2	0	8	1	6	0	4	1	2	1	4	1	1	5			C3N-01842_TP	C3N-01842_NB	G	G																c.482C>T	p.Thr161Met	p.T161M	ENST00000580155	8/15	290	227	63	353	351	2	strelka-varscan-mutect	RBFOX3,missense_variant,p.Thr160Met,ENST00000583458,;RBFOX3,missense_variant,p.Thr161Met,ENST00000584778,;RBFOX3,missense_variant,p.Thr161Met,ENST00000580155,NM_001082575.2;RBFOX3,intron_variant,,ENST00000582043,;RBFOX3,upstream_gene_variant,,ENST00000578998,;RBFOX3,upstream_gene_variant,,ENST00000581393,;	A	ENST00000580155	Transcript	missense_variant	995/1519	482/939	161/312	T/M	aCg/aTg	COSM4964845	1		-1	RBFOX3	HGNC	HGNC:27097	protein_coding	YES	CCDS45805.1	ENSP00000463653	A6NFN3		UPI000020041C	NM_001082575.2	deleterious(0.02)		8/15		PROSITE_profiles:PS50102,hmmpanther:PTHR15597,Gene3D:3.30.70.330,Pfam_domain:PF00076,PIRSF_domain:PIRSF037932,SMART_domains:SM00360,Superfamily_domains:SSF54928											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	84	79103187	79103187	G	A	1	0	0	0	0	1	0	0	0	13273	1145	40	1		1	RBFOX3	17	79103187	Missense_Mutation	SNP	G	C3N-01842_TP	3177831	79103187	4154254	364	28218											
BAHCC1	0	.	GRCh38	chr17	81399801	81399801	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgcgggagcctgggccAccgcagcgccgctgccgccg	4	2	18	17	7	0	0	0	0	0	0	0	2	0	2	6	3	4	2	6	3	0	0	rs571740633		C3N-01842_TP	C3N-01842_NB	A	A																c.62A>T	p.His21Leu	p.H21L	ENST00000584436	2/29	82	67	15	117	117	0	strelka-varscan-mutect	BAHCC1,missense_variant,p.His21Leu,ENST00000584436,NM_001291324.1;BAHCC1,missense_variant,p.His21Leu,ENST00000307745,;MIR4740,downstream_gene_variant,,ENST00000584184,;BAHCC1,non_coding_transcript_exon_variant,,ENST00000583828,;BAHCC1,upstream_gene_variant,,ENST00000625166,;RP11-1055B8.1,upstream_gene_variant,,ENST00000624417,;	T	ENST00000584436	Transcript	missense_variant	429/10801	62/7920	21/2639	H/L	cAc/cTc	rs571740633	1		1	BAHCC1	HGNC	HGNC:29279	protein_coding	YES	CCDS74173.1	ENSP00000462154		A0A075B747	UPI0003EAE637	NM_001291324.1	deleterious(0)		2/29																			MODERATE	1	SNV	5			1										PASS		rs571740633	.												T	3	4	84	81399801	81399801	A	T	1	0	0	0	0	1	0	0	0	1451	159	6	4		4	BAHCC1	17	81399801	Missense_Mutation	SNP	A	C3N-01842_TP	2296614	81399801	1857640	365	28219											
NOTUM	0	.	GRCh38	chr17	81960728	81960728	+	Frame_Shift_Del	DEL	C	C	-																															ccatgaagctgtccatgttaCcctccacggccgtgaagtcc																								rs773783101		C3N-01842_TP	C3N-01842_NB	C	C																c.182delG	p.Gly61ValfsTer39	p.G61Vfs*39	ENST00000409678	1/11	140	110	30	199	198	1	sindel-varindel-pindel	NOTUM,frameshift_variant,p.Gly61ValfsTer39,ENST00000409678,NM_178493.5;NOTUM,frameshift_variant,p.Gly61ValfsTer39,ENST00000425009,;NOTUM,upstream_gene_variant,,ENST00000477214,;RP11-498C9.17,downstream_gene_variant,,ENST00000580125,;NOTUM,non_coding_transcript_exon_variant,,ENST00000489218,;	-	ENST00000409678	Transcript	frameshift_variant	566/2329	182/1491	61/496	G/X	gGt/gt	rs773783101	1		-1	NOTUM	HGNC	HGNC:27106	protein_coding	YES	CCDS32771.2	ENSP00000387310	Q6P988		UPI000004EE80	NM_178493.5			1/11		hmmpanther:PTHR21562,hmmpanther:PTHR21562:SF7																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	84	81960728	81960728	C	-	1	0	1	0	1	0	0	0	0	10598	507	18	0		0	NOTUM	17	81960728	Frame_Shift_Del	DEL	C	C3N-01842_TP	560927	81960728	1296713	366	28220											
EPB41L3	0	.	GRCh38	chr18	5395679	5395679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtgcactcatcagcacgCctggctccagatctgtgcct	6	11	9	15	1	4	1	2	0	2	1	5	1	5	1	3	1	3	3	3	1	0	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.3002G>T	p.Gly1001Val	p.G1001V	ENST00000341928	20/23	276	241	35	241	241	0	strelka-varscan-mutect	EPB41L3,missense_variant,p.Gly1001Val,ENST00000341928,NM_012307.3;EPB41L3,missense_variant,p.Gly832Val,ENST00000342933,;EPB41L3,missense_variant,p.Gly960Val,ENST00000400111,;EPB41L3,missense_variant,p.Gly832Val,ENST00000544123,NM_001281533.1;EPB41L3,missense_variant,p.Gly779Val,ENST00000540638,NM_001281534.1;EPB41L3,missense_variant,p.Gly670Val,ENST00000545076,NM_001281535.1;EPB41L3,missense_variant,p.Gly54Val,ENST00000579951,;EPB41L3,downstream_gene_variant,,ENST00000578524,;EPB41L3,downstream_gene_variant,,ENST00000579271,;EPB41L3,downstream_gene_variant,,ENST00000581387,;EPB41L3,downstream_gene_variant,,ENST00000580647,;EPB41L3,downstream_gene_variant,,ENST00000580316,;EPB41L3,downstream_gene_variant,,ENST00000581292,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,3_prime_UTR_variant,,ENST00000637651,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578618,;EPB41L3,downstream_gene_variant,,ENST00000584055,;	A	ENST00000341928	Transcript	missense_variant	3343/4706	3002/3264	1001/1087	G/V	gGc/gTc		1		-1	EPB41L3	HGNC	HGNC:3380	protein_coding	YES	CCDS11838.1	ENSP00000343158	Q9Y2J2		UPI0000129AFA	NM_012307.3	deleterious(0.04)		20/23		hmmpanther:PTHR23280:SF20,hmmpanther:PTHR23280,Pfam_domain:PF05902																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	5395679	5395679	C	A	1	0	0	0	0	1	0	0	0	5001	739	26	2		2	EPB41L3	18	5395679	Missense_Mutation	SNP	C	C3N-01842_TP		5395679	74977606	367	28221											
EPB41L3	0	.	GRCh38	chr18	5415840	5415840	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcctctgaactgtcactcGggtcattgtctagggaggcg	6	12	12	11	2	4	1	2	1	2	0	6	2	5	2	1	3	1	0	1	3	2	3	rs758517478		C3N-01842_TP	C3N-01842_NB	G	G																c.2045C>A	p.Pro682Gln	p.P682Q	ENST00000341928	13/23	191	165	26	185	185	0	strelka-varscan-mutect	EPB41L3,missense_variant,p.Pro682Gln,ENST00000341928,NM_012307.3;EPB41L3,intron_variant,,ENST00000342933,;EPB41L3,intron_variant,,ENST00000400111,;EPB41L3,intron_variant,,ENST00000544123,NM_001281533.1;EPB41L3,intron_variant,,ENST00000540638,NM_001281534.1;EPB41L3,intron_variant,,ENST00000545076,NM_001281535.1;EPB41L3,intron_variant,,ENST00000578524,;EPB41L3,intron_variant,,ENST00000579271,;EPB41L3,intron_variant,,ENST00000581387,;EPB41L3,intron_variant,,ENST00000580647,;EPB41L3,intron_variant,,ENST00000580316,;EPB41L3,intron_variant,,ENST00000581292,;EPB41L3,downstream_gene_variant,,ENST00000584670,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000582729,;EPB41L3,intron_variant,,ENST00000542652,;EPB41L3,intron_variant,,ENST00000578395,;EPB41L3,intron_variant,,ENST00000637651,;EPB41L3,intron_variant,,ENST00000578196,;	T	ENST00000341928	Transcript	missense_variant	2386/4706	2045/3264	682/1087	P/Q	cCg/cAg	rs758517478	1		-1	EPB41L3	HGNC	HGNC:3380	protein_coding	YES	CCDS11838.1	ENSP00000343158	Q9Y2J2		UPI0000129AFA	NM_012307.3	tolerated(0.14)		13/23		hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20																	MODERATE	1	SNV	1			1										PASS		rs758517478	.												T	3	4	84	5415840	5415840	G	T	1	0	0	0	0	1	0	0	0	5001	1116	39	1		1	EPB41L3	18	5415840	Missense_Mutation	SNP	G	C3N-01842_TP	20161	5415840	74957445	368	28222											
MTCL1	0	.	GRCh38	chr18	8824896	8824896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccacaatggtggggggcCggacctttgggccgacagga	7	5	19	10	2	0	0	0	0	0	0	0	3	0	2	4	8	0	0	4	8	1	1	rs115963216		C3N-01842_TP	C3N-01842_NB	C	C																c.3386C>A	p.Pro1129Gln	p.P1129Q	ENST00000359865	15/17	296	183	113	287	287	0	strelka-varscan-mutect	MTCL1,missense_variant,p.Pro1129Gln,ENST00000359865,NM_015210.3;MTCL1,missense_variant,p.Pro1129Gln,ENST00000400050,;MTCL1,missense_variant,p.Pro1088Gln,ENST00000517570,;MTCL1,missense_variant,p.Pro1448Gln,ENST00000306329,;MTCL1,missense_variant,p.Pro454Gln,ENST00000518815,;	A	ENST00000359865	Transcript	missense_variant	3528/6093	3386/4761	1129/1586	P/Q	cCg/cAg	rs115963216,COSM4277089,COSM438416	1		1	MTCL1	HGNC	HGNC:29121	protein_coding	YES	CCDS11841.1	ENSP00000352927	Q9Y4B5		UPI0000456B5B	NM_015210.3	tolerated(0.05)		15/17		hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF3											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs115963216	.												A	3	1	84	8824896	8824896	C	A	1	0	0	0	0	1	0	0	0	9900	652	23	1		1	MTCL1	18	8824896	Missense_Mutation	SNP	C	C3N-01842_TP	3409056	8824896	71548389	369	28223											
CEP192	0	.	GRCh38	chr18	13100401	13100401	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattctttccccagtatctGagccttcagttagtcatttg	8	16	7	10	0	4	1	2	1	2	0	5	2	5	1	3	0	1	2	3	0	3	6	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.6760G>T	p.Glu2254Ter	p.E2254*	ENST00000506447	38/45	432	337	95	368	367	1	strelka-varscan-mutect	CEP192,stop_gained,p.Glu2254Ter,ENST00000506447,NM_032142.3;CEP192,stop_gained,p.Glu1779Ter,ENST00000325971,;CEP192,stop_gained,p.Glu1793Ter,ENST00000511820,;CEP192,3_prime_UTR_variant,,ENST00000430049,;CEP192,non_coding_transcript_exon_variant,,ENST00000540847,;CEP192,upstream_gene_variant,,ENST00000508539,;CEP192,stop_gained,p.Glu1854Ter,ENST00000510237,;CEP192,stop_gained,p.Glu802Ter,ENST00000589993,;CEP192,3_prime_UTR_variant,,ENST00000513432,;CEP192,downstream_gene_variant,,ENST00000508150,;	T	ENST00000506447	Transcript	stop_gained	6840/7960	6760/7614	2254/2537	E/*	Gag/Tag		1		1	CEP192	HGNC	HGNC:25515	protein_coding	YES	CCDS32792.2	ENSP00000427550	Q8TEP8		UPI0001B09235	NM_032142.3			38/45		hmmpanther:PTHR16029,hmmpanther:PTHR16029:SF10																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	84	13100401	13100401	G	T	1	0	0	0	0	0	1	0	0	2967	1291	45	2		2	CEP192	18	13100401	Nonsense_Mutation	SNP	G	C3N-01842_TP	4275505	13100401	67272884	370	28224											
DSG1	0	.	GRCh38	chr18	31333634	31333634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taagaggctctgaccgagatGgcggggcagatggcatgtca	10	7	16	8	2	2	4	1	1	1	3	2	5	2	4	1	5	0	3	1	5	1	1			C3N-01842_TP	C3N-01842_NB	G	G																c.730G>T	p.Gly244Cys	p.G244C	ENST00000257192	7/15	568	433	135	671	670	1	strelka-varscan-mutect	DSG1,missense_variant,p.Gly244Cys,ENST00000257192,NM_001942.3;	T	ENST00000257192	Transcript	missense_variant	942/5045	730/3150	244/1049	G/C	Ggc/Tgc	COSM272618	1		1	DSG1	HGNC	HGNC:3048	protein_coding	YES	CCDS11896.1	ENSP00000257192	Q02413		UPI000013CF4C	NM_001942.3	deleterious(0)		7/15		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF9,SMART_domains:SM00112,Superfamily_domains:SSF49313											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	84	31333634	31333634	G	T	1	0	0	0	0	1	0	0	0	4597	1348	47	2		2	DSG1	18	31333634	Missense_Mutation	SNP	G	C3N-01842_TP	18233233	31333634	49039651	371	28225											
FHOD3	0	.	GRCh38	chr18	36709283	36709283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaaaaagagaggcagaacGagggggtgaacgagagggac	16	2	19	4	2	0	5	0	2	0	3	0	9	0	6	0	4	2	1	0	4	4	0			C3N-01842_TP	C3N-01842_NB	G	G																c.2425G>A	p.Glu809Lys	p.E809K	ENST00000590592	18/29	369	281	88	457	456	1	strelka-varscan-mutect	FHOD3,missense_variant,p.Glu634Lys,ENST00000257209,NM_025135.3;FHOD3,missense_variant,p.Glu809Lys,ENST00000590592,NM_001281740.1;FHOD3,missense_variant,p.Glu617Lys,ENST00000359247,NM_001281739.1;FHOD3,missense_variant,p.Glu395Lys,ENST00000592930,;FHOD3,intron_variant,,ENST00000591635,;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;FHOD3,non_coding_transcript_exon_variant,,ENST00000587493,;	A	ENST00000590592	Transcript	missense_variant	2425/4869	2425/4869	809/1622	E/K	Gag/Aag	COSM4440506	1		1	FHOD3	HGNC	HGNC:26178	protein_coding	YES	CCDS62418.1	ENSP00000466937	Q2V2M9		UPI0002840E0A	NM_001281740.1	deleterious_low_confidence(0)		18/29		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF213											1						MODERATE	1	SNV	1		1	1										PASS		rs1044726015	.												A	3	1	84	36709283	36709283	G	A	1	0	0	0	0	1	0	0	0	5748	1059	37	1		1	FHOD3	18	36709283	Missense_Mutation	SNP	G	C3N-01842_TP	5375649	36709283	43664002	372	28226											
NARS	0	.	GRCh38	chr18	57609356	57609356	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcgaaactcaatccactcaCctgcttgccctttggggtaa	9	11	8	13	1	2	0	2	0	0	0	3	1	3	0	3	2	4	2	3	2	3	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.579+1G>T		p.X193_splice	ENST00000256854		197	159	38	177	177	0	strelka-varscan-mutect	NARS,splice_donor_variant,,ENST00000256854,NM_004539.3;NARS,splice_donor_variant,,ENST00000587675,;NARS,splice_donor_variant,,ENST00000591599,;NARS,splice_donor_variant,,ENST00000588661,;NARS,downstream_gene_variant,,ENST00000587194,;NARS,splice_donor_variant,,ENST00000411676,;NARS,splice_donor_variant,,ENST00000540592,;NARS,intron_variant,,ENST00000586807,;NARS,upstream_gene_variant,,ENST00000589314,;NARS,upstream_gene_variant,,ENST00000589001,;NARS,downstream_gene_variant,,ENST00000587366,;NARS,downstream_gene_variant,,ENST00000590123,;	A	ENST00000256854	Transcript	splice_donor_variant	-/3099	579/1647	193/548				1		-1	NARS	HGNC	HGNC:7643	protein_coding	YES	CCDS32837.1	ENSP00000256854	O43776		UPI00001365E8	NM_004539.3				7/13																		HIGH	1	SNV	1			1										PASS		rs941650822	.												A	5	1	84	57609356	57609356	C	A	1	0	0	0	0	0	0	1	0	10179	521	18	2		2	NARS	18	57609356	Splice_Site	SNP	C	C3N-01842_TP	20900073	57609356	22763929	373	28227											
CTDP1	0	.	GRCh38	chr18	79728978	79728978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaggacggagagcagcctgGcccttctagaagaaagcgac	12	5	13	11	2	2	3	1	0	1	3	2	6	2	4	2	3	3	1	2	3	3	2	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.2489G>T	p.Gly830Val	p.G830V	ENST00000613122	11/13	519	434	85	648	648	0	strelka-varscan-mutect	CTDP1,missense_variant,p.Gly830Val,ENST00000613122,NM_004715.4;CTDP1,missense_variant,p.Gly711Val,ENST00000299543,NM_001202504.1;CTDP1,missense_variant,p.Gly762Val,ENST00000591598,;CTDP1,intron_variant,,ENST00000075430,NM_048368.3;	T	ENST00000613122	Transcript	missense_variant	2636/5866	2489/2886	830/961	G/V	gGc/gTc		1		1	CTDP1	HGNC	HGNC:2498	protein_coding	YES	CCDS12017.1	ENSP00000484525	Q9Y5B0		UPI000013C57B	NM_004715.4	deleterious(0)		11/13		Pfam_domain:PF09309,hmmpanther:PTHR23081,hmmpanther:PTHR23081:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	79728978	79728978	G	T	1	0	0	0	0	1	0	0	0	3810	1203	42	2		2	CTDP1	18	79728978	Missense_Mutation	SNP	G	C3N-01842_TP	22119622	79728978	644307	374	28228											
BSG	0	.	GRCh38	chr19	579579	579579	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatgacagcgccacagaGgtcacagggcaccgctggct	10	6	13	12	2	1	3	1	2	0	1	1	3	1	3	2	3	1	3	2	3	1	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.495G>A	p.=	p.E165E	ENST00000333511	3/9	181	130	51	250	250	0	strelka-varscan-mutect	BSG,splice_region_variant,p.=,ENST00000614867,;BSG,synonymous_variant,p.=,ENST00000333511,NM_001728.3;BSG,synonymous_variant,p.=,ENST00000353555,NM_001322243.1,NM_198589.2;BSG,synonymous_variant,p.=,ENST00000613627,;BSG,synonymous_variant,p.=,ENST00000573216,;BSG,5_prime_UTR_variant,,ENST00000545507,NM_198590.2;BSG,5_prime_UTR_variant,,ENST00000573784,;BSG,5_prime_UTR_variant,,ENST00000576984,;BSG,intron_variant,,ENST00000346916,NM_198591.2;BSG,intron_variant,,ENST00000618006,;BSG,non_coding_transcript_exon_variant,,ENST00000574970,;BSG,non_coding_transcript_exon_variant,,ENST00000571735,;BSG,non_coding_transcript_exon_variant,,ENST00000576925,;BSG,non_coding_transcript_exon_variant,,ENST00000572899,;BSG,upstream_gene_variant,,ENST00000618112,;BSG,downstream_gene_variant,,ENST00000590218,;	A	ENST00000333511	Transcript	synonymous_variant	565/1974	495/1158	165/385	E	gaG/gaA		1		1	BSG	HGNC	HGNC:1116	protein_coding	YES	CCDS12033.1	ENSP00000333769	P35613		UPI0000051E38	NM_001728.3			3/9		PROSITE_profiles:PS50835,hmmpanther:PTHR10075,hmmpanther:PTHR10075:SF12,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	579579	579579	G	A	1	0	0	0	0	0	0	0	1	1703	1014	35	3		3	BSG	19	579579	Silent	SNP	G	C3N-01842_TP		579579	58038037	375	28229											
STK11	0	.	GRCh38	chr19	1219358	1219358	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtactgcgtgtgtggcatgCaggaaatgctggacagcgtg	9	9	16	7	2	0	0	0	0	0	0	0	2	0	2	0	3	5	4	0	3	2	1	rs730881970		C3N-01842_TP	C3N-01842_NB	C	C																c.409C>T	p.Gln137Ter	p.Q137*	ENST00000326873	3/10	234	172	62	505	505	0	strelka-varscan-mutect	STK11,stop_gained,p.Gln137Ter,ENST00000586243,;STK11,stop_gained,p.Gln137Ter,ENST00000326873,NM_000455.4;STK11,stop_gained,p.Gln13Ter,ENST00000585748,;STK11,intron_variant,,ENST00000585851,;STK11,upstream_gene_variant,,ENST00000585465,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;STK11,upstream_gene_variant,,ENST00000591133,;STK11,downstream_gene_variant,,ENST00000593219,;	T	ENST00000326873	Transcript	stop_gained	859/2611	409/1302	137/433	Q/*	Cag/Tag	rs730881970,CM041079,COSM48901	1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4			3/10		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112										uncertain_significance,pathogenic	0,0,1						HIGH	1	SNV	1		1,1,1	1										PASS		rs730881970	.												T	4	4	84	1219358	1219358	C	T	1	0	0	0	0	0	1	0	0	15664	711	25	3		3	STK11	19	1219358	Nonsense_Mutation	SNP	C	C3N-01842_TP	639779	1219358	57398258	376	28230											
KDM4B	0	.	GRCh38	chr19	5131294	5131294	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttaatgtcgtgccccctGaggtgcccagtgaggagcta	7	9	12	13	1	0	2	0	2	0	0	1	3	0	3	4	2	3	1	4	2	2	2	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1534G>T	p.Glu512Ter	p.E512*	ENST00000159111	12/23	135	95	40	213	213	0	strelka-varscan-mutect	KDM4B,stop_gained,p.Glu546Ter,ENST00000611640,;KDM4B,stop_gained,p.Glu512Ter,ENST00000159111,NM_015015.2;KDM4B,stop_gained,p.Glu546Ter,ENST00000536461,;KDM4B,stop_gained,p.Glu258Ter,ENST00000588361,;KDM4B,upstream_gene_variant,,ENST00000588166,;KDM4B,non_coding_transcript_exon_variant,,ENST00000589104,;	T	ENST00000159111	Transcript	stop_gained	1752/5593	1534/3291	512/1096	E/*	Gag/Tag		1		1	KDM4B	HGNC	HGNC:29136	protein_coding	YES	CCDS12138.1	ENSP00000159111		A0A0C4DFL8	UPI000023B7FC	NM_015015.2			12/23		Low_complexity_(Seg):seg,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF30																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	84	5131294	5131294	G	T	1	0	0	0	0	0	1	0	0	8047	1291	45	2		2	KDM4B	19	5131294	Nonsense_Mutation	SNP	G	C3N-01842_TP	3911936	5131294	53486322	377	28231											
KDM4B	0	.	GRCh38	chr19	5144044	5144044	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacgagcactgctccacGtccttccacgtgacctgcgc	6	9	8	18	4	0	1	0	1	0	0	4	2	4	1	5	0	4	2	5	0	1	2	rs139226669		C3N-01842_TP	C3N-01842_NB	G	G																c.2628G>T	p.=	p.T876T	ENST00000159111	19/23	67	44	23	100	100	0	strelka-varscan-mutect	KDM4B,synonymous_variant,p.=,ENST00000611640,;KDM4B,synonymous_variant,p.=,ENST00000159111,NM_015015.2;KDM4B,synonymous_variant,p.=,ENST00000536461,;KDM4B,downstream_gene_variant,,ENST00000588361,;KDM4B,non_coding_transcript_exon_variant,,ENST00000589104,;	T	ENST00000159111	Transcript	synonymous_variant	2846/5593	2628/3291	876/1096	T	acG/acT	rs139226669	1		1	KDM4B	HGNC	HGNC:29136	protein_coding	YES	CCDS12138.1	ENSP00000159111		A0A0C4DFL8	UPI000023B7FC	NM_015015.2			19/23		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF30,Pfam_domain:PF13832,SMART_domains:SM00249																	LOW	1	SNV	1			1										PASS		rs139226669	.												T	2	4	84	5144044	5144044	G	T	1	0	0	0	0	0	0	0	1	8047	1132	40	1		1	KDM4B	19	5144044	Silent	SNP	G	C3N-01842_TP	12750	5144044	53473572	378	28232											
PNPLA6	0	.	GRCh38	chr19	7553920	7553920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcggaactcaccaacccagCcagcaacctggcaactgtgg	11	5	9	16	1	1	0	1	0	0	0	2	1	1	1	4	3	6	2	4	3	4	0	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.2336C>T	p.Ala779Val	p.A779V	ENST00000414982	21/34	386	268	118	538	538	0	strelka-varscan-mutect	PNPLA6,missense_variant,p.Ala731Val,ENST00000221249,NM_006702.4;PNPLA6,missense_variant,p.Ala779Val,ENST00000414982,NM_001166111.1;PNPLA6,missense_variant,p.Ala704Val,ENST00000545201,NM_001166112.1;PNPLA6,missense_variant,p.Ala731Val,ENST00000450331,NM_001166113.1;PNPLA6,missense_variant,p.Ala769Val,ENST00000600737,NM_001166114.1;PNPLA6,downstream_gene_variant,,ENST00000594864,;PNPLA6,non_coding_transcript_exon_variant,,ENST00000599951,;PNPLA6,downstream_gene_variant,,ENST00000599311,;PNPLA6,downstream_gene_variant,,ENST00000595176,;PNPLA6,downstream_gene_variant,,ENST00000595889,;PNPLA6,upstream_gene_variant,,ENST00000595352,;	T	ENST00000414982	Transcript	missense_variant	2531/4522	2336/4128	779/1375	A/V	gCc/gTc		1		1	PNPLA6	HGNC	HGNC:16268	protein_coding	YES	CCDS54206.1	ENSP00000407509	Q8IY17		UPI0001AE63FF	NM_001166111.1	tolerated(0.23)		21/34		hmmpanther:PTHR14226,hmmpanther:PTHR14226:SF26																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	84	7553920	7553920	C	T	1	0	0	0	0	1	0	0	0	12277	739	26	3		3	PNPLA6	19	7553920	Missense_Mutation	SNP	C	C3N-01842_TP	2409876	7553920	51063696	379	28233											
MUC16	0	.	GRCh38	chr19	8950233	8950233	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggctagttttttccactGatgggcggcttggccatgac	6	12	14	9	1	0	2	0	2	0	0	1	3	1	2	2	4	0	3	2	4	1	5	rs144604762		C3N-01842_TP	C3N-01842_NB	G	G																c.26537C>G	p.Ser8846Ter	p.S8846*	ENST00000397910	3/84	243	168	75	407	406	1	strelka-varscan-mutect	MUC16,stop_gained,p.Ser8846Ter,ENST00000397910,NM_024690.2;	C	ENST00000397910	Transcript	stop_gained	26741/43816	26537/43524	8846/14507	S/*	tCa/tGa	rs144604762,COSM3542354,COSM3542355,COSM3542356	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84													0,1,1,1						HIGH	1	SNV	5		0,1,1,1	1										PASS		rs144604762	.												C	4	2	84	8950233	8950233	G	C	1	0	0	0	0	0	1	0	0	9972	1294	45	4		4	MUC16	19	8950233	Nonsense_Mutation	SNP	G	C3N-01842_TP	1396313	8950233	49667383	380	28234											
MYO9B	0	.	GRCh38	chr19	17184965	17184965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaagaagaaaaagccacCaagcatcagcgcccagttcc	16	3	8	14	1	1	2	1	0	0	2	2	2	2	2	4	0	3	3	4	0	5	1	rs748669405		C3N-01842_TP	C3N-01842_NB	C	C																c.2474C>T	p.Pro825Leu	p.P825L	ENST00000595618	17/40	292	276	16	303	303	0	strelka-mutect	MYO9B,missense_variant,p.Pro825Leu,ENST00000595618,NM_001130065.1;MYO9B,missense_variant,p.Pro825Leu,ENST00000594824,NM_004145.3;MYO9B,missense_variant,p.Pro825Leu,ENST00000397274,;MYO9B,missense_variant,p.Pro825Leu,ENST00000595641,;MYO9B,missense_variant,p.Pro117Leu,ENST00000602177,;MYO9B,downstream_gene_variant,,ENST00000594971,;MYO9B,non_coding_transcript_exon_variant,,ENST00000601749,;MYO9B,non_coding_transcript_exon_variant,,ENST00000601490,;MYO9B,downstream_gene_variant,,ENST00000598101,;MYO9B,downstream_gene_variant,,ENST00000598464,;	T	ENST00000595618	Transcript	missense_variant	2626/7623	2474/6069	825/2022	P/L	cCa/cTa	rs748669405	1		1	MYO9B	HGNC	HGNC:7609	protein_coding	YES	CCDS46010.1	ENSP00000471457	Q13459		UPI000020367C	NM_001130065.1	deleterious(0.01)		17/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,Low_complexity_(Seg):seg,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs748669405	.												T	3	4	84	17184965	17184965	C	T	1	0	0	0	0	1	0	0	0	10086	594	21	3		3	MYO9B	19	17184965	Missense_Mutation	SNP	C	C3N-01842_TP	8234732	17184965	41432651	381	28235											
UNC13A	0	.	GRCh38	chr19	17641459	17641459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccacaatctcctgggctGtctcatcgtagtaaaccttc	8	12	7	14	2	2	0	1	0	2	0	7	0	3	0	3	1	1	3	3	1	4	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.2570C>A	p.Thr857Lys	p.T857K	ENST00000519716	21/44	342	233	109	327	327	0	strelka-varscan-mutect	UNC13A,missense_variant,p.Thr857Lys,ENST00000519716,NM_001080421.2;UNC13A,missense_variant,p.Thr857Lys,ENST00000551649,;UNC13A,missense_variant,p.Thr857Lys,ENST00000552293,;UNC13A,missense_variant,p.Thr855Lys,ENST00000550896,;	T	ENST00000519716	Transcript	missense_variant	2570/9838	2570/5112	857/1703	T/K	aCa/aAa		1		-1	UNC13A	HGNC	HGNC:23150	protein_coding	YES	CCDS46013.2	ENSP00000429562	Q9UPW8		UPI00006C19A7	NM_001080421.2	tolerated(0.12)		21/44		hmmpanther:PTHR10480																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	84	17641459	17641459	G	T	1	0	0	0	0	1	0	0	0	17508	1377	48	2		2	UNC13A	19	17641459	Missense_Mutation	SNP	G	C3N-01842_TP	456494	17641459	40976157	382	28236											
UNC13A	0	.	GRCh38	chr19	17645691	17645691	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaggttgtaccacacgTccatctcgccgctgagcgtc	7	8	9	17	4	1	1	0	1	1	0	4	1	2	1	4	1	2	3	4	1	1	2	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.2339A>G	p.Asp780Gly	p.D780G	ENST00000519716	19/44	230	191	39	221	221	0	strelka-varscan-mutect	UNC13A,missense_variant,p.Asp780Gly,ENST00000519716,NM_001080421.2;UNC13A,missense_variant,p.Asp780Gly,ENST00000551649,;UNC13A,missense_variant,p.Asp780Gly,ENST00000552293,;UNC13A,missense_variant,p.Asp778Gly,ENST00000550896,;	C	ENST00000519716	Transcript	missense_variant	2339/9838	2339/5112	780/1703	D/G	gAc/gGc		1		-1	UNC13A	HGNC	HGNC:23150	protein_coding	YES	CCDS46013.2	ENSP00000429562	Q9UPW8		UPI00006C19A7	NM_001080421.2	deleterious(0)		19/44		Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10480,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	5			1										PASS		rs1330892660	.												C	3	2	84	17645691	17645691	T	C	1	0	0	0	0	1	0	0	0	17508	1667	58	5		5	UNC13A	19	17645691	Missense_Mutation	SNP	T	C3N-01842_TP	4232	17645691	40971925	383	28237											
ZNF729	0	.	GRCh38	chr19	22316797	22316797	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaacataagataattcataCtggggagaaaccctacaaat	19	8	7	7	0	1	2	1	0	0	2	1	4	1	2	1	2	4	0	1	2	7	5	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.3380C>G	p.Thr1127Ser	p.T1127S	ENST00000601693	4/4	505	421	84	341	341	0	strelka-varscan-mutect	ZNF729,missense_variant,p.Thr1127Ser,ENST00000601693,NM_001242680.1;	G	ENST00000601693	Transcript	missense_variant	3498/3877	3380/3759	1127/1252	T/S	aCt/aGt		1		1	ZNF729	HGNC	HGNC:32464	protein_coding	YES	CCDS59368.1	ENSP00000469582	A6NN14		UPI000042600C	NM_001242680.1	tolerated(0.11)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	84	22316797	22316797	C	G	1	0	0	0	0	1	0	0	0	18703	565	20	4		4	ZNF729	19	22316797	Missense_Mutation	SNP	C	C3N-01842_TP	4671106	22316797	36300819	384	28238											
ZNF99	0	.	GRCh38	chr19	22757425	22757425	+	Missense_Mutation	SNP	C	C	A																															tgtaaagtaagttttgaggaCcactgaaaagctttaccaca																								novel		C3N-01842_TP	C3N-01842_NB	C	C																c.2484G>T	p.Trp828Cys	p.W828C	ENST00000596209	4/4	432	368	64	280	277	3	strelka-varscan-mutect	ZNF99,missense_variant,p.Trp828Cys,ENST00000596209,NM_001080409.2;ZNF99,intron_variant,,ENST00000397104,;	A	ENST00000596209	Transcript	missense_variant	2575/7817	2484/2595	828/864	W/C	tgG/tgT		1		-1	ZNF99	HGNC	HGNC:13175	protein_coding	YES	CCDS59369.1	ENSP00000472969	A8MXY4		UPI0000426011	NM_001080409.2	tolerated(0.22)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	84	22757425	22757425	C	A	1	0	0	0	0	1	0	0	0	18797	508	18	2		2	ZNF99	19	22757425	Missense_Mutation	SNP	C	C3N-01842_TP	440628	22757425	35860191	385	28239	596	2									
ZNF99	0	.	GRCh38	chr19	22757426	22757426	+	Missense_Mutation	SNP	C	C	A																															gtaaagtaagttttgaggacCactgaaaagctttaccacat																								rs781134992		C3N-01842_TP	C3N-01842_NB	C	C																c.2483G>T	p.Trp828Leu	p.W828L	ENST00000596209	4/4	425	365	60	282	282	0	strelka-varscan-mutect	ZNF99,missense_variant,p.Trp828Leu,ENST00000596209,NM_001080409.2;ZNF99,intron_variant,,ENST00000397104,;	A	ENST00000596209	Transcript	missense_variant	2574/7817	2483/2595	828/864	W/L	tGg/tTg	rs781134992	1		-1	ZNF99	HGNC	HGNC:13175	protein_coding	YES	CCDS59369.1	ENSP00000472969	A8MXY4		UPI0000426011	NM_001080409.2	tolerated(0.74)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		rs781134992	.												A	3	1	84	22757426	22757426	C	A	1	0	0	0	0	1	0	0	0	18797	595	21	2		2	ZNF99	19	22757426	Missense_Mutation	SNP	C	C3N-01842_TP	1	22757426	35860190	386	28240	596	2									
ZNF99	0	.	GRCh38	chr19	22758120	22758120	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaaagctttgccacattCttcacatttgtagggtttct	9	17	7	8	0	3	0	1	0	2	0	3	0	3	0	1	1	2	4	1	1	3	7	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1789G>T	p.Glu597Ter	p.E597*	ENST00000596209	4/4	599	450	149	444	444	0	strelka-varscan-mutect	ZNF99,stop_gained,p.Glu597Ter,ENST00000596209,NM_001080409.2;ZNF99,stop_gained,p.Glu506Ter,ENST00000397104,;	A	ENST00000596209	Transcript	stop_gained	1880/7817	1789/2595	597/864	E/*	Gaa/Taa		1		-1	ZNF99	HGNC	HGNC:13175	protein_coding	YES	CCDS59369.1	ENSP00000472969	A8MXY4		UPI0000426011	NM_001080409.2			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	84	22758120	22758120	C	A	1	0	0	0	0	0	1	0	0	18797	922	32	2		2	ZNF99	19	22758120	Nonsense_Mutation	SNP	C	C3N-01842_TP	694	22758120	35859496	387	28241											
ZNF99	0	.	GRCh38	chr19	22758927	22758927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattatctgatgttttctaaGggctgagaaatggttaaaag	14	14	10	3	0	2	2	0	2	2	1	2	3	2	2	0	2	0	3	0	2	6	5	rs545722379		C3N-01842_TP	C3N-01842_NB	G	G																c.982C>T	p.Leu328Phe	p.L328F	ENST00000596209	4/4	484	382	102	364	364	0	strelka-varscan-mutect	ZNF99,missense_variant,p.Leu328Phe,ENST00000596209,NM_001080409.2;ZNF99,missense_variant,p.Leu237Phe,ENST00000397104,;	A	ENST00000596209	Transcript	missense_variant	1073/7817	982/2595	328/864	L/F	Ctt/Ttt	rs545722379	1		-1	ZNF99	HGNC	HGNC:13175	protein_coding	YES	CCDS59369.1	ENSP00000472969	A8MXY4		UPI0000426011	NM_001080409.2	tolerated(0.05)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		rs545722379	.												A	3	1	84	22758927	22758927	G	A	1	0	0	0	0	1	0	0	0	18797	1000	35	3		3	ZNF99	19	22758927	Missense_Mutation	SNP	G	C3N-01842_TP	807	22758927	35858689	388	28242											
ZNF681	0	.	GRCh38	chr19	23743725	23743725	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaccagtatgaattttctTatgtccagtaaggtttgagg	10	15	9	7	0	2	2	1	2	1	0	3	2	3	2	2	2	0	3	2	2	4	6	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.1825A>T	p.Lys609Ter	p.K609*	ENST00000402377	4/4	217	171	46	170	170	0	strelka-varscan-mutect	ZNF681,stop_gained,p.Lys609Ter,ENST00000402377,NM_138286.2;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,;	A	ENST00000402377	Transcript	stop_gained	1967/6497	1825/1938	609/645	K/*	Aag/Tag		1		-1	ZNF681	HGNC	HGNC:26457	protein_coding	YES	CCDS12414.2	ENSP00000384000	Q96N22		UPI000022ABC8	NM_138286.2			4/4		Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF356,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	84	23743725	23743725	T	A	1	0	0	0	0	0	1	0	0	18661	1763	61	4		4	ZNF681	19	23743725	Nonsense_Mutation	SNP	T	C3N-01842_TP	984798	23743725	34873891	389	28243											
POP4	0	.	GRCh38	chr19	29606324	29606324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcggtccgagaatgaaGagtaagcggggccgcgaagt	12	4	18	7	5	0	3	0	1	0	2	1	6	1	4	2	4	2	1	2	4	5	1	rs150671362		C3N-01842_TP	C3N-01842_NB	G	G																c.6G>T	p.Lys2Asn	p.K2N	ENST00000585603	1/7	174	75	99	120	120	0	strelka-varscan-mutect	POP4,missense_variant,p.Lys2Asn,ENST00000585603,NM_006627.2;POP4,missense_variant,p.Lys2Asn,ENST00000586420,;POP4,splice_region_variant,,ENST00000221770,;POP4,5_prime_UTR_variant,,ENST00000590688,;POP4,splice_region_variant,,ENST00000591824,;POP4,upstream_gene_variant,,ENST00000586136,;POP4,upstream_gene_variant,,ENST00000592759,;POP4,missense_variant,p.Lys2Asn,ENST00000586823,;POP4,missense_variant,p.Lys2Asn,ENST00000591061,;POP4,splice_region_variant,,ENST00000588551,;POP4,splice_region_variant,,ENST00000586173,;	T	ENST00000585603	Transcript	missense_variant,splice_region_variant	2308/3385	6/663	2/220	K/N	aaG/aaT	rs150671362,COSM5505023	1		1	POP4	HGNC	HGNC:30081	protein_coding	YES	CCDS12416.1	ENSP00000465213	O95707		UPI0000034DFA	NM_006627.2	tolerated_low_confidence(0.2)		1/7		hmmpanther:PTHR13348,PIRSF_domain:PIRSF027081											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs150671362	.												T	3	4	84	29606324	29606324	G	T	1	0	0	0	0	1	0	0	0	12366	956	33	2		2	POP4	19	29606324	Missense_Mutation	SNP	G	C3N-01842_TP	5862599	29606324	29011292	390	28244											
GPATCH1	0	.	GRCh38	chr19	33111722	33111722	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgttctctgcccccgcAgatgctctggaacgctgtct	4	14	9	14	2	4	1	0	0	4	1	5	2	4	2	2	1	3	4	2	1	1	3	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.1586-2A>T		p.X529_splice	ENST00000170564		244	113	131	153	153	0	strelka-varscan-mutect	GPATCH1,splice_acceptor_variant,,ENST00000170564,NM_018025.2;GPATCH1,splice_acceptor_variant,,ENST00000590062,;GPATCH1,upstream_gene_variant,,ENST00000592262,;GPATCH1,downstream_gene_variant,,ENST00000592165,;	T	ENST00000170564	Transcript	splice_acceptor_variant	-/3492	1586/2796	529/931				1		1	GPATCH1	HGNC	HGNC:24658	protein_coding	YES	CCDS12428.1	ENSP00000170564	Q9BRR8		UPI000004EC71	NM_018025.2				11/19																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	84	33111722	33111722	A	T	1	0	0	0	0	0	0	1	0	6489	202	7	4		4	GPATCH1	19	33111722	Splice_Site	SNP	A	C3N-01842_TP	3505398	33111722	25505894	391	28245											
CYP2A13	0	.	GRCh38	chr19	41090050	41090050	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgttcacctccccaggcgTggcgttcagcaacggggagc	6	6	14	15	5	2	0	2	0	0	0	3	1	3	1	3	4	3	3	3	4	1	2	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.347T>A	p.Val116Glu	p.V116E	ENST00000330436	3/9	317	136	181	173	173	0	strelka-varscan-mutect	CYP2A13,missense_variant,p.Val116Glu,ENST00000330436,NM_000766.4;	A	ENST00000330436	Transcript	missense_variant	347/1739	347/1485	116/494	V/E	gTg/gAg		1		1	CYP2A13	HGNC	HGNC:2608	protein_coding	YES	CCDS12571.1	ENSP00000332679	Q16696		UPI000013E07A	NM_000766.4	tolerated(0.09)		3/9		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF186,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	41090050	41090050	T	A	1	0	0	0	0	1	0	0	0	3964	1710	59	4		4	CYP2A13	19	41090050	Missense_Mutation	SNP	T	C3N-01842_TP	7978328	41090050	17527566	392	28246											
SYT3	0	.	GRCh38	chr19	50630033	50630033	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccctggtacagctctggCttaatctgcccaatgagttt	7	13	9	12	0	2	1	0	1	2	0	3	1	3	1	3	2	3	4	3	2	3	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.813G>A	p.=	p.K271K	ENST00000338916	3/9	137	103	34	199	199	0	strelka-varscan-mutect	SYT3,synonymous_variant,p.=,ENST00000338916,NM_032298.2;SYT3,synonymous_variant,p.=,ENST00000593901,NM_001160328.1;SYT3,synonymous_variant,p.=,ENST00000600079,NM_001160329.1;SYT3,downstream_gene_variant,,ENST00000598997,;SYT3,upstream_gene_variant,,ENST00000595117,;SYT3,upstream_gene_variant,,ENST00000595557,;	T	ENST00000338916	Transcript	synonymous_variant	1447/2915	813/1773	271/590	K	aaG/aaA		1		-1	SYT3	HGNC	HGNC:11511	protein_coding	YES	CCDS12798.1	ENSP00000340914	Q9BQG1	A0A024R4I9	UPI0000047AEB	NM_032298.2			3/9		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF176																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	84	50630033	50630033	C	T	1	0	0	0	0	0	0	0	1	15869	796	28	3		3	SYT3	19	50630033	Silent	SNP	C	C3N-01842_TP	9539983	50630033	7987583	393	28247											
KLK2	0	.	GRCh38	chr19	50876871	50876871	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttttctctgacccataGtcttgcgccccaggagtctt	6	14	8	13	1	3	1	0	1	3	0	4	2	3	2	3	1	1	1	3	1	1	5			C3N-01842_TP	C3N-01842_NB	G	G																c.494-1G>C		p.X165_splice	ENST00000325321		124	107	17	160	160	0	strelka-varscan-mutect	KLK2,splice_acceptor_variant,,ENST00000325321,NM_005551.4;KLK2,splice_acceptor_variant,,ENST00000358049,NM_001002231.2;KLK2,splice_acceptor_variant,,ENST00000391810,NM_001256080.1;KLK2,splice_acceptor_variant,,ENST00000600690,;KLK2,downstream_gene_variant,,ENST00000599568,;KLK2,downstream_gene_variant,,ENST00000593493,;KLK2,intron_variant,,ENST00000596950,;KLK2,downstream_gene_variant,,ENST00000597509,;KLK2,splice_acceptor_variant,,ENST00000595173,;KLK2,splice_acceptor_variant,,ENST00000594174,;KLK2,splice_acceptor_variant,,ENST00000599121,;KLK2,splice_acceptor_variant,,ENST00000597727,;KLK2,splice_acceptor_variant,,ENST00000595050,;KLK2,non_coding_transcript_exon_variant,,ENST00000600755,;KLK2,non_coding_transcript_exon_variant,,ENST00000600866,;KLK2,non_coding_transcript_exon_variant,,ENST00000599280,;KLK2,intron_variant,,ENST00000597439,;KLK2,intron_variant,,ENST00000601114,;KLK2,intron_variant,,ENST00000595316,;KLK2,downstream_gene_variant,,ENST00000601743,;KLK2,upstream_gene_variant,,ENST00000597461,;KLK2,downstream_gene_variant,,ENST00000595375,;KLK2,upstream_gene_variant,,ENST00000597911,;	C	ENST00000325321	Transcript	splice_acceptor_variant	-/3019	494/786	165/261			COSM1212703,COSM1212704	1		1	KLK2	HGNC	HGNC:6363	protein_coding	YES	CCDS12808.1	ENSP00000313581	P20151	A0A024R4J4	UPI000004CA0C	NM_005551.4				3/4												1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												C	5	2	84	50876871	50876871	G	C	1	0	0	0	0	0	0	1	0	8273	1043	36	4		4	KLK2	19	50876871	Splice_Site	SNP	G	C3N-01842_TP	246838	50876871	7740745	394	28248											
SIGLEC12	0	.	GRCh38	chr19	51497397	51497397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaccagggctgtggctccaGctcccccgaatgcccctagc	7	6	11	17	1	0	1	0	0	0	1	2	2	2	1	6	2	3	3	6	2	2	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1454C>A	p.Ala485Asp	p.A485D	ENST00000291707	6/8	165	117	48	236	236	0	strelka-varscan-mutect	SIGLEC12,missense_variant,p.Ala485Asp,ENST00000291707,NM_053003.3;SIGLEC12,missense_variant,p.Ala367Asp,ENST00000598614,NM_033329.2;SIGLEC12,3_prime_UTR_variant,,ENST00000596742,;	T	ENST00000291707	Transcript	missense_variant	1510/2121	1454/1788	485/595	A/D	gCt/gAt		1		-1	SIGLEC12	HGNC	HGNC:15482	protein_coding	YES	CCDS12833.1	ENSP00000291707	Q96PQ1		UPI0000135992	NM_053003.3	deleterious(0)		6/8		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12035:SF53,hmmpanther:PTHR12035																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	51497397	51497397	G	T	1	0	0	0	0	1	0	0	0	14572	971	34	2		2	SIGLEC12	19	51497397	Missense_Mutation	SNP	G	C3N-01842_TP	620526	51497397	7120219	395	28249											
ZNF615	0	.	GRCh38	chr19	51993397	51993397	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttctctcctgtatgagtgCgccgatgtacattgagatga	8	14	11	8	2	1	3	0	3	1	1	3	5	2	3	2	0	2	3	2	0	2	4	rs147205148		C3N-01842_TP	C3N-01842_NB	C	C																c.1712G>C	p.Arg571Pro	p.R571P	ENST00000594083	6/6	231	161	70	282	282	0	strelka-varscan-mutect	ZNF615,missense_variant,p.Arg560Pro,ENST00000602063,NM_001321320.1,NM_001321317.1;ZNF615,missense_variant,p.Arg560Pro,ENST00000376716,NM_198480.3;ZNF615,missense_variant,p.Arg571Pro,ENST00000594083,NM_001321322.1,NM_001321321.1,NM_001321323.1,NM_001321319.1,NM_001321318.1;ZNF615,missense_variant,p.Arg565Pro,ENST00000391795,;ZNF615,missense_variant,p.Arg571Pro,ENST00000598071,NM_001199324.1;ZNF615,missense_variant,p.Arg569Pro,ENST00000618049,;ZNF615,missense_variant,p.Arg571Pro,ENST00000618487,;ZNF615,downstream_gene_variant,,ENST00000593650,;ZNF615,downstream_gene_variant,,ENST00000601178,;ZNF615,3_prime_UTR_variant,,ENST00000599177,;ZNF615,downstream_gene_variant,,ENST00000599115,;	G	ENST00000594083	Transcript	missense_variant	1957/4020	1712/2229	571/742	R/P	cGc/cCc	rs147205148,COSM1395764,COSM1395765	1		-1	ZNF615	HGNC	HGNC:24740	protein_coding	YES	CCDS59418.1	ENSP00000471549	Q8N8J6		UPI000022A99B	NM_001321322.1,NM_001321321.1,NM_001321323.1,NM_001321319.1,NM_001321318.1	deleterious(0.02)		6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF167,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs147205148	.												G	3	3	84	51993397	51993397	C	G	1	0	0	0	0	1	0	0	0	18615	768	27	4		4	ZNF615	19	51993397	Missense_Mutation	SNP	C	C3N-01842_TP	496000	51993397	6624219	396	28250											
ZNF534	0	.	GRCh38	chr19	52438706	52438706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttacaaatgtaatgaatgtGgcaaagcatttagaacgtgt	15	12	10	4	1	0	2	0	1	0	1	0	2	0	2	0	1	3	4	0	1	7	4	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1285G>T	p.Gly429Cys	p.G429C	ENST00000332323	4/4	108	77	31	117	116	1	strelka-varscan-mutect	ZNF534,missense_variant,p.Gly429Cys,ENST00000332323,NM_001143939.1;ZNF534,missense_variant,p.Gly416Cys,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000617900,NM_001291368.1;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;	T	ENST00000332323	Transcript	missense_variant	1346/2086	1285/2025	429/674	G/C	Ggc/Tgc		1		1	ZNF534	HGNC	HGNC:26337	protein_coding	YES	CCDS46165.1	ENSP00000327538	Q76KX8		UPI0000351984	NM_001143939.1	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF187,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	52438706	52438706	G	T	1	0	0	0	0	1	0	0	0	18546	1348	47	2		2	ZNF534	19	52438706	Missense_Mutation	SNP	G	C3N-01842_TP	445309	52438706	6178910	397	28251											
FAM71E2	0	.	GRCh38	chr19	55358619	55358619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgaccaccactggcttcCcctccagtaaggacagctgg	8	8	9	16	0	1	1	0	1	1	0	3	2	3	2	5	3	1	3	5	3	1	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.2249G>T	p.Gly750Val	p.G750V	ENST00000424985	9/11	183	139	44	231	230	1	strelka-varscan-mutect	FAM71E2,missense_variant,p.Gly750Val,ENST00000424985,NM_001145402.1;COX6B2,upstream_gene_variant,,ENST00000593184,;COX6B2,upstream_gene_variant,,ENST00000588572,;COX6B2,upstream_gene_variant,,ENST00000326529,NM_144613.4;COX6B2,upstream_gene_variant,,ENST00000590900,;COX6B2,upstream_gene_variant,,ENST00000589467,;COX6B2,upstream_gene_variant,,ENST00000586191,;CTD-2105E13.6,missense_variant,p.Gly300Val,ENST00000591954,;FAM71E2,3_prime_UTR_variant,,ENST00000585734,;COX6B2,upstream_gene_variant,,ENST00000587854,;COX6B2,upstream_gene_variant,,ENST00000587357,;	A	ENST00000424985	Transcript	missense_variant	2443/3191	2249/2769	750/922	G/V	gGg/gTg		1		-1	FAM71E2	HGNC	HGNC:25278	protein_coding	YES		ENSP00000398617	Q8N5Q1		UPI0001949ABA	NM_001145402.1	tolerated(0.12)		9/11		hmmpanther:PTHR22574:SF12,hmmpanther:PTHR22574																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	84	55358619	55358619	C	A	1	0	0	0	0	1	0	0	0	5476	623	22	2		2	FAM71E2	19	55358619	Missense_Mutation	SNP	C	C3N-01842_TP	2919913	55358619	3258997	398	28252											
FAM71E2	0	.	GRCh38	chr19	55358984	55358984	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctccagggtcacctccttGgtttggctaatcaggatgtc	6	12	11	12	0	2	0	2	0	0	0	5	1	4	1	4	4	0	2	4	4	1	3	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1884C>A	p.=	p.T628T	ENST00000424985	9/11	240	176	64	355	354	1	strelka-varscan-mutect	FAM71E2,synonymous_variant,p.=,ENST00000424985,NM_001145402.1;COX6B2,upstream_gene_variant,,ENST00000593184,;COX6B2,upstream_gene_variant,,ENST00000588572,;COX6B2,upstream_gene_variant,,ENST00000326529,NM_144613.4;COX6B2,upstream_gene_variant,,ENST00000590900,;COX6B2,upstream_gene_variant,,ENST00000589467,;CTD-2105E13.6,synonymous_variant,p.=,ENST00000591954,;FAM71E2,3_prime_UTR_variant,,ENST00000585734,;COX6B2,upstream_gene_variant,,ENST00000587854,;COX6B2,upstream_gene_variant,,ENST00000587357,;	T	ENST00000424985	Transcript	synonymous_variant	2078/3191	1884/2769	628/922	T	acC/acA		1		-1	FAM71E2	HGNC	HGNC:25278	protein_coding	YES		ENSP00000398617	Q8N5Q1		UPI0001949ABA	NM_001145402.1			9/11		hmmpanther:PTHR22574:SF12,hmmpanther:PTHR22574																	LOW		SNV	5			1										PASS		rs892881819	.												T	2	4	84	55358984	55358984	G	T	1	0	0	0	0	0	0	0	1	5476	1335	47	2		2	FAM71E2	19	55358984	Silent	SNP	G	C3N-01842_TP	365	55358984	3258632	399	28253											
RFPL4A	0	.	GRCh38	chr19	55762919	55762919	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgctgccagcactgtgcCtatgactcctctctgggtga	5	13	10	13	0	1	2	0	2	1	0	3	2	2	2	3	1	4	2	3	1	1	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.608C>G	p.Pro203Arg	p.P203R	ENST00000434937	3/3	559	523	36	848	847	1	varscan-mutect	RFPL4A,missense_variant,p.Pro203Arg,ENST00000434937,NM_001145014.1;	G	ENST00000434937	Transcript	missense_variant	779/1035	608/864	203/287	P/R	cCt/cGt		1		1	RFPL4A	HGNC	HGNC:16449	protein_coding	YES	CCDS46201.1	ENSP00000392936	A6NLU0		UPI0000D6181F	NM_001145014.1	deleterious(0)		3/3		PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF228,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	84	55762919	55762919	C	G	1	0	0	0	0	1	0	0	0	13428	681	24	4		4	RFPL4A	19	55762919	Missense_Mutation	SNP	C	C3N-01842_TP	403935	55762919	2854697	400	28254											
RFPL4AL1	0	.	GRCh38	chr19	55772923	55772923	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgctgccagcactgtgcCtatgactcctctctgggtga	5	13	10	13	0	1	2	0	2	1	0	3	2	2	2	3	1	4	2	3	1	1	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.608C>G	p.Pro203Arg	p.P203R	ENST00000341750	3/3	317	233	84	441	441	0	strelka-varscan-mutect	RFPL4AL1,missense_variant,p.Pro203Arg,ENST00000341750,NM_001277397.1;RFPL4AP1,upstream_gene_variant,,ENST00000530883,;	G	ENST00000341750	Transcript	missense_variant	652/908	608/864	203/287	P/R	cCt/cGt		1		1	RFPL4AL1	HGNC	HGNC:45147	protein_coding	YES	CCDS59425.1	ENSP00000345151	F8VTS6		UPI000015FD78	NM_001277397.1	deleterious(0)		3/3		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF228,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	84	55772923	55772923	C	G	1	0	0	0	0	1	0	0	0	13429	681	24	4		4	RFPL4AL1	19	55772923	Missense_Mutation	SNP	C	C3N-01842_TP	10004	55772923	2844693	401	28255											
NLRP4	0	.	GRCh38	chr19	55858249	55858249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaaacccgtgtgcccgaagGagctccgggatcaggtgacg	9	6	14	12	4	2	1	2	1	0	0	3	4	3	3	3	3	3	1	3	3	2	0	rs267605697		C3N-01842_TP	C3N-01842_NB	G	G																c.856G>A	p.Glu286Lys	p.E286K	ENST00000301295	3/10	261	180	81	491	491	0	strelka-varscan-mutect	NLRP4,missense_variant,p.Glu286Lys,ENST00000301295,NM_134444.4;NLRP4,missense_variant,p.Glu211Lys,ENST00000587891,;NLRP4,upstream_gene_variant,,ENST00000589437,;NLRP4,downstream_gene_variant,,ENST00000587464,;	A	ENST00000301295	Transcript	missense_variant	1278/3670	856/2985	286/994	E/K	Gag/Aag	rs267605697,COSM4560777,COSM4560778	1		1	NLRP4	HGNC	HGNC:22943	protein_coding	YES	CCDS12936.1	ENSP00000301295	Q96MN2		UPI000013E6FD	NM_134444.4	tolerated(0.86)		3/10		hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Pfam_domain:PF05729,Superfamily_domains:SSF52540											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs267605697	.												A	3	1	84	55858249	55858249	G	A	1	0	0	0	0	1	0	0	0	10517	1175	41	3		3	NLRP4	19	55858249	Missense_Mutation	SNP	G	C3N-01842_TP	85326	55858249	2759367	402	28256											
C20orf141	0	.	GRCh38	chr20	2815285	2815285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcaggtagtccagtgcGtccacctgtatccacctggg	6	9	14	12	1	1	0	1	0	0	0	4	0	4	0	5	4	1	2	5	4	2	2	rs374163831		C3N-01842_TP	C3N-01842_NB	G	G																c.101G>T	p.Arg34Leu	p.R34L	ENST00000380593	2/3	91	56	35	116	116	0	strelka-varscan-mutect	RP5-860F19.8,missense_variant,p.Arg34Leu,ENST00000380593,;C20orf141,missense_variant,p.Arg34Leu,ENST00000380589,NM_080739.2;C20orf141,missense_variant,p.Arg34Leu,ENST00000603872,NM_001256538.1;TMEM239,upstream_gene_variant,,ENST00000361033,NM_001318207.1;TMEM239,upstream_gene_variant,,ENST00000380585,NM_001167670.1;	T	ENST00000380593	Transcript	missense_variant	184/1866	101/765	34/254	R/L	cGt/cTt	rs374163831,COSM1025481	1		1	RP5-860F19.8	Clone_based_vega_gene		protein_coding	YES		ENSP00000369967		Q6ZPB1	UPI00001C10E8		tolerated_low_confidence(0.65)		2/3		hmmpanther:PTHR39222:SF1,hmmpanther:PTHR39222											0,1						MODERATE		SNV	2		0,1	1										PASS		rs374163831	.												T	3	4	84	2815285	2815285	G	T	1	0	0	0	0	1	0	0	0	2002	1145	40	1		1	C20orf141	20	2815285	Missense_Mutation	SNP	G	C3N-01842_TP		2815285	61628882	403	28257											
C20orf196	0	.	GRCh38	chr20	5863291	5863291	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagttttcaaatggcccGggtgatcttcaaccgggacg	8	9	12	12	4	3	1	2	1	1	0	3	2	3	2	3	3	1	2	3	3	2	3	rs566914252		C3N-01842_TP	C3N-01842_NB	G	G																c.446G>C	p.Arg149Pro	p.R149P	ENST00000303142	3/3	314	219	95	310	310	0	strelka-varscan-mutect	C20orf196,missense_variant,p.Arg149Pro,ENST00000303142,NM_001303477.1,NM_152504.3;C20orf196,missense_variant,p.Arg196Pro,ENST00000442185,;C20orf196,downstream_gene_variant,,ENST00000445603,;	C	ENST00000303142	Transcript	missense_variant	533/1154	446/618	149/205	R/P	cGg/cCg	rs566914252	1		1	C20orf196	HGNC	HGNC:26318	protein_coding	YES	CCDS13091.1	ENSP00000305875	Q8IYI0		UPI0000074251	NM_001303477.1,NM_152504.3	deleterious(0.01)		3/3		Pfam_domain:PF15021,hmmpanther:PTHR36863,hmmpanther:PTHR36863:SF1																	MODERATE	1	SNV	1			1										PASS		rs566914252	.												C	3	2	84	5863291	5863291	G	C	1	0	0	0	0	1	0	0	0	2006	1116	39	4		4	C20orf196	20	5863291	Missense_Mutation	SNP	G	C3N-01842_TP	3048006	5863291	58580876	404	28258											
BTBD3	0	.	GRCh38	chr20	11919733	11919733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagtatgttttagctgttGggagctctgtgttccatgcg	6	15	12	8	1	1	0	0	0	1	0	2	1	2	1	1	1	3	6	1	1	2	5			C3N-01842_TP	C3N-01842_NB	G	G																c.433G>T	p.Gly145Trp	p.G145W	ENST00000405977	4/5	288	206	82	231	231	0	strelka-varscan-mutect	BTBD3,missense_variant,p.Gly145Trp,ENST00000405977,;BTBD3,missense_variant,p.Gly145Trp,ENST00000378226,NM_014962.3;BTBD3,missense_variant,p.Gly84Trp,ENST00000399006,;BTBD3,missense_variant,p.Gly84Trp,ENST00000254977,NM_181443.3;BTBD3,missense_variant,p.Gly84Trp,ENST00000618296,NM_001282551.1;BTBD3,missense_variant,p.Gly84Trp,ENST00000618918,NM_001282550.1;BTBD3,missense_variant,p.Gly84Trp,ENST00000422390,;BTBD3,missense_variant,p.Gly34Trp,ENST00000430557,;BTBD3,missense_variant,p.Gly34Trp,ENST00000455911,;BTBD3,downstream_gene_variant,,ENST00000450368,;RP4-742J24.2,upstream_gene_variant,,ENST00000439529,;BTBD3,non_coding_transcript_exon_variant,,ENST00000488503,;BTBD3,non_coding_transcript_exon_variant,,ENST00000471120,;BTBD3,non_coding_transcript_exon_variant,,ENST00000473416,;BTBD3,upstream_gene_variant,,ENST00000473180,;BTBD3,3_prime_UTR_variant,,ENST00000449299,;	T	ENST00000405977	Transcript	missense_variant	1058/5137	433/1569	145/522	G/W	Ggg/Tgg	COSM1532843	1		1	BTBD3	HGNC	HGNC:15854	protein_coding	YES	CCDS13113.1	ENSP00000384545	Q9Y2F9		UPI0000126B03		deleterious(0)		4/5		PROSITE_profiles:PS50097,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF104,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695											1						MODERATE		SNV	5		1	1										PASS		.	.												T	3	4	84	11919733	11919733	G	T	1	0	0	0	0	1	0	0	0	1720	1348	47	2		2	BTBD3	20	11919733	Missense_Mutation	SNP	G	C3N-01842_TP	6056442	11919733	52524434	405	28259											
CFAP61	0	.	GRCh38	chr20	20251731	20251731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagatcgtgccctacgacCacctcatcctctgcaccggg	8	7	9	17	4	2	1	1	0	1	1	4	3	3	1	5	1	3	1	5	1	1	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.2296C>A	p.His766Asn	p.H766N	ENST00000245957	20/27	245	187	58	242	242	0	strelka-varscan-mutect	CFAP61,missense_variant,p.His766Asn,ENST00000245957,NM_015585.3;CFAP61,missense_variant,p.His122Asn,ENST00000377293,;CFAP61,missense_variant,p.His122Asn,ENST00000389656,;CFAP61,non_coding_transcript_exon_variant,,ENST00000476414,;CFAP61,non_coding_transcript_exon_variant,,ENST00000468719,;CFAP61,missense_variant,p.His122Asn,ENST00000377308,;RPL17P1,downstream_gene_variant,,ENST00000445304,;	A	ENST00000245957	Transcript	missense_variant	2372/4082	2296/3714	766/1237	H/N	Cac/Aac		1		1	CFAP61	HGNC	HGNC:15872	protein_coding	YES	CCDS33447.1	ENSP00000245957	Q8NHU2		UPI0000206AE4	NM_015585.3	deleterious(0)		20/27		Gene3D:3.50.50.60,hmmpanther:PTHR21178,hmmpanther:PTHR21178:SF8,Superfamily_domains:SSF51905																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	20251731	20251731	C	A	1	0	0	0	0	1	0	0	0	3028	594	21	2		2	CFAP61	20	20251731	Missense_Mutation	SNP	C	C3N-01842_TP	8331998	20251731	44192436	406	28260											
COMMD7	0	.	GRCh38	chr20	32743389	32743390	+	Frame_Shift_Ins	INS	-	-	A																															cagtgcagtgcaggcggcccINSatggcgcgcgccccagcccc																								novel		C3N-01842_TP	C3N-01842_NB	-	-																c.2dupT	p.Met1?	p.M1?	ENST00000278980	1/9	82	55	27	122	122	0	sindel-varindel	COMMD7,frameshift_variant,p.Met1?,ENST00000278980,NM_053041.2;COMMD7,frameshift_variant,p.Met1?,ENST00000446419,NM_001099339.1;COMMD7,frameshift_variant,p.Met1?,ENST00000474815,;COMMD7,frameshift_variant,p.Met1?,ENST00000610160,;	A	ENST00000278980	Transcript	frameshift_variant,start_lost	608-609/1900	2-3/603	1/200	M/IX	atg/atTg		1		-1	COMMD7	HGNC	HGNC:16223	protein_coding	YES	CCDS42864.1	ENSP00000278980	Q86VX2		UPI000006D145	NM_053041.2			1/9		hmmpanther:PTHR16231,hmmpanther:PTHR16231:SF2																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	84	32743389	32743389	-	A	1	0	1	1	0	0	0	0	0	3513	594	21	0		0	COMMD7	20	32743389	Frame_Shift_Ins	INS	-	C3N-01842_TP	12491658	32743389	31700778	407	28261											
FAM83C	0	.	GRCh38	chr20	35287196	35287196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagggggcctgagttggggGtaaccccagagtcagggtct	8	7	18	8	0	2	2	1	1	1	1	2	3	2	2	3	5	1	2	3	5	2	2			C3N-01842_TP	C3N-01842_NB	G	G																c.1583C>A	p.Thr528Asn	p.T528N	ENST00000374408	4/4	210	166	44	212	212	0	strelka-varscan-mutect	FAM83C,missense_variant,p.Thr528Asn,ENST00000374408,NM_178468.5;EIF6,upstream_gene_variant,,ENST00000374450,NM_002212.3;EIF6,upstream_gene_variant,,ENST00000374436,NM_181468.2;EIF6,upstream_gene_variant,,ENST00000621148,NM_001267810.1;EIF6,upstream_gene_variant,,ENST00000374443,NM_181466.2;EIF6,upstream_gene_variant,,ENST00000456600,;FAM83C-AS1,downstream_gene_variant,,ENST00000429167,;EIF6,upstream_gene_variant,,ENST00000462894,;EIF6,upstream_gene_variant,,ENST00000447927,;EIF6,upstream_gene_variant,,ENST00000440766,;EIF6,upstream_gene_variant,,ENST00000415116,;	T	ENST00000374408	Transcript	missense_variant	1680/3145	1583/2244	528/747	T/N	aCc/aAc	COSM723927	1		-1	FAM83C	HGNC	HGNC:16121	protein_coding	YES	CCDS13251.1	ENSP00000363529	Q9BQN1		UPI0000072DC0	NM_178468.5	tolerated_low_confidence(0.08)		4/4		hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF3											1						MODERATE	1	SNV	1		1	1										PASS		rs1449474417	.												T	3	4	84	35287196	35287196	G	T	1	0	0	0	0	1	0	0	0	5493	1261	44	2		2	FAM83C	20	35287196	Missense_Mutation	SNP	G	C3N-01842_TP	2543807	35287196	29156971	408	28262											
SPAG4	0	.	GRCh38	chr20	35617805	35617805	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccatccgcttcctgtTcacggctgtgtcgctgctga	3	14	10	14	3	1	1	1	1	0	0	5	1	4	1	3	1	1	6	3	1	0	3	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.503T>C	p.Phe168Ser	p.F168S	ENST00000374273	4/12	272	200	72	272	272	0	strelka-varscan-mutect	SPAG4,missense_variant,p.Phe168Ser,ENST00000374273,NM_001317931.1,NM_003116.1;SPAG4,missense_variant,p.Phe43Ser,ENST00000454819,;SPAG4,upstream_gene_variant,,ENST00000430878,;SPAG4,intron_variant,,ENST00000462896,;SPAG4,non_coding_transcript_exon_variant,,ENST00000468248,;SPAG4,non_coding_transcript_exon_variant,,ENST00000463973,;SPAG4,non_coding_transcript_exon_variant,,ENST00000498203,;	C	ENST00000374273	Transcript	missense_variant	615/1453	503/1314	168/437	F/S	tTc/tCc		1		1	SPAG4	HGNC	HGNC:11214	protein_coding	YES	CCDS13259.1	ENSP00000363391	Q9NPE6		UPI0000135D8F	NM_001317931.1,NM_003116.1	deleterious(0)		4/12		hmmpanther:PTHR12911,hmmpanther:PTHR12911:SF16,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	84	35617805	35617805	T	C	1	0	0	0	0	1	0	0	0	15311	1783	62	5		5	SPAG4	20	35617805	Missense_Mutation	SNP	T	C3N-01842_TP	330609	35617805	28826362	409	28263											
CDH22	0	.	GRCh38	chr20	46178143	46178143	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgggcaggaagaacacgTcctgctcctgccggttgaag	9	7	15	10	2	0	2	0	1	0	1	2	4	2	4	3	4	3	3	3	4	3	1	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.1718A>C	p.Asp573Ala	p.D573A	ENST00000537909	11/12	239	169	70	234	234	0	strelka-varscan-mutect	CDH22,missense_variant,p.Asp573Ala,ENST00000537909,NM_021248.2;CDH22,missense_variant,p.Asp573Ala,ENST00000372262,;	G	ENST00000537909	Transcript	missense_variant	2361/3902	1718/2487	573/828	D/A	gAc/gCc		1		-1	CDH22	HGNC	HGNC:13251	protein_coding	YES	CCDS13395.1	ENSP00000437790	Q9UJ99		UPI0000126DC0	NM_021248.2	tolerated(0.14)		11/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF311,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	84	46178143	46178143	T	G	1	0	0	0	0	1	0	0	0	2810	1667	58	5		5	CDH22	20	46178143	Missense_Mutation	SNP	T	C3N-01842_TP	10560338	46178143	18266024	410	28264											
SULF2	0	.	GRCh38	chr20	47678770	47678770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcaatgtccaggatggtggGggccaggtcaatgttgagga	9	9	17	6	0	1	1	1	1	0	0	2	3	2	3	2	6	1	2	2	6	2	1			C3N-01842_TP	C3N-01842_NB	G	G																c.1099C>A	p.Pro367Thr	p.P367T	ENST00000359930	8/21	218	174	44	223	222	1	strelka-varscan-mutect	SULF2,missense_variant,p.Pro367Thr,ENST00000359930,NM_018837.3;SULF2,missense_variant,p.Pro367Thr,ENST00000484875,NM_001161841.1;SULF2,missense_variant,p.Pro367Thr,ENST00000467815,NM_198596.2;CTD-2653D5.1,intron_variant,,ENST00000526566,;SULF2,upstream_gene_variant,,ENST00000465769,;	T	ENST00000359930	Transcript	missense_variant	1951/4915	1099/2613	367/870	P/T	Ccc/Acc	COSM4927342	1		-1	SULF2	HGNC	HGNC:20392	protein_coding	YES	CCDS13408.1	ENSP00000353007	Q8IWU5		UPI000003FFBA	NM_018837.3	deleterious(0)		8/21		hmmpanther:PTHR10342:SF67,hmmpanther:PTHR10342,Pfam_domain:PF00884,Gene3D:3.40.720.10,PIRSF_domain:PIRSF036665,Superfamily_domains:SSF53649											1						MODERATE	1	SNV	1		1	1										PASS		rs1288350734	.												T	3	4	84	47678770	47678770	G	T	1	0	0	0	0	1	0	0	0	15759	1232	43	2		2	SULF2	20	47678770	Missense_Mutation	SNP	G	C3N-01842_TP	1500627	47678770	16765397	411	28265											
MOCS3	0	.	GRCh38	chr20	50959394	50959394	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgctcggacaacgtgccCactcgctacctggttaatga	9	9	10	13	3	0	1	0	1	0	0	2	3	0	2	2	2	4	3	2	2	3	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.552C>T	p.=	p.P184P	ENST00000244051	1/1	207	158	49	191	191	0	strelka-varscan-mutect	MOCS3,synonymous_variant,p.=,ENST00000244051,NM_014484.4;DPM1,upstream_gene_variant,,ENST00000371582,NM_001317035.1;DPM1,upstream_gene_variant,,ENST00000371588,NM_003859.1;DPM1,upstream_gene_variant,,ENST00000371584,;DPM1,upstream_gene_variant,,ENST00000413082,;DPM1,upstream_gene_variant,,ENST00000466152,;	T	ENST00000244051	Transcript	synonymous_variant	569/5106	552/1383	184/460	P	ccC/ccT		1		1	MOCS3	HGNC	HGNC:15765	protein_coding	YES	CCDS13435.1	ENSP00000244051	O95396		UPI000012F369	NM_014484.4			1/1		Gene3D:3.40.50.720,HAMAP:MF_03049,Pfam_domain:PF00899,hmmpanther:PTHR10953,Superfamily_domains:SSF69572																	LOW		SNV				1										PASS		.	.												T	2	4	84	50959394	50959394	C	T	1	0	0	0	0	0	0	0	1	9655	581	21	3		3	MOCS3	20	50959394	Silent	SNP	C	C3N-01842_TP	3280624	50959394	13484773	412	28266											
ZNF831	0	.	GRCh38	chr20	59254539	59254539	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcccctctttaggaagTgacggtaggaaacgtcaggt	9	9	12	11	2	2	1	1	1	1	0	2	3	2	3	3	4	2	1	3	4	4	3	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.4830T>C	p.=	p.S1610S	ENST00000637017	8/8	359	277	82	304	304	0	strelka-varscan-mutect	ZNF831,synonymous_variant,p.=,ENST00000637017,;ZNF831,synonymous_variant,p.=,ENST00000371030,NM_178457.2;	C	ENST00000637017	Transcript	synonymous_variant	6379/10953	4830/5034	1610/1677	S	agT/agC		1		1	ZNF831	HGNC	HGNC:16167	protein_coding	YES	CCDS42894.1	ENSP00000490240			UPI00001D82E4				8/8																			LOW	1	SNV				1										PASS		rs1018224238	.												C	2	2	84	59254539	59254539	T	C	1	0	0	0	0	0	0	0	1	18770	1693	59	5		5	ZNF831	20	59254539	Silent	SNP	T	C3N-01842_TP	8295145	59254539	5189628	413	28267											
CHRNA4	0	.	GRCh38	chr20	63349716	63349716	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggacgccctccaccgcccgGgtcagggccggcgacagggg	5	3	17	16	5	1	0	1	0	0	0	2	2	2	1	5	6	0	0	5	6	0	0	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1695C>A	p.=	p.T565T	ENST00000370263	5/6	232	161	71	189	189	0	strelka-varscan-mutect	CHRNA4,synonymous_variant,p.=,ENST00000615287,;CHRNA4,synonymous_variant,p.=,ENST00000370263,NM_001256573.1,NM_000744.6;CHRNA4,non_coding_transcript_exon_variant,,ENST00000463705,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000467563,;CHRNA4,downstream_gene_variant,,ENST00000628665,;CHRNA4,downstream_gene_variant,,ENST00000636652,;CHRNA4,downstream_gene_variant,,ENST00000637243,;CHRNA4,3_prime_UTR_variant,,ENST00000627000,;CHRNA4,3_prime_UTR_variant,,ENST00000498043,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000630240,;CHRNA4,upstream_gene_variant,,ENST00000631289,;	T	ENST00000370263	Transcript	synonymous_variant	1873/5577	1695/1884	565/627	T	acC/acA		1		-1	CHRNA4	HGNC	HGNC:1958	protein_coding	YES	CCDS13517.1	ENSP00000359285	P43681		UPI000012523B	NM_001256573.1,NM_000744.6			5/6		Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF401,Superfamily_domains:SSF90112																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	84	63349716	63349716	G	T	1	0	0	0	0	0	0	0	1	3145	1219	43	2		2	CHRNA4	20	63349716	Silent	SNP	G	C3N-01842_TP	4095177	63349716	1094451	414	28268											
MYT1	0	.	GRCh38	chr20	64219854	64219854	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacgcctcccagcgccacAgcagcaccagcgcccccagc	8	1	9	23	4	0	0	0	0	0	0	1	1	1	0	7	0	5	2	7	0	0	0	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.2113A>T	p.Ser705Cys	p.S705C	ENST00000328439	13/23	298	195	103	218	218	0	strelka-varscan-mutect	MYT1,missense_variant,p.Ser732Cys,ENST00000536311,;MYT1,missense_variant,p.Ser705Cys,ENST00000328439,NM_004535.2;MYT1,missense_variant,p.Ser407Cys,ENST00000622439,;MYT1,missense_variant,p.Ser407Cys,ENST00000360149,;	T	ENST00000328439	Transcript	missense_variant	2477/5535	2113/3366	705/1121	S/C	Agc/Tgc		1		1	MYT1	HGNC	HGNC:7622	protein_coding	YES	CCDS13558.1	ENSP00000327465	Q01538		UPI000012FBFA	NM_004535.2	deleterious(0)		13/23		Pfam_domain:PF08474,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	64219854	64219854	A	T	1	0	0	0	0	1	0	0	0	10105	188	7	4		4	MYT1	20	64219854	Missense_Mutation	SNP	A	C3N-01842_TP	870138	64219854	224313	415	28269											
TPTE	0	.	GRCh38	chr21	10569746	10569746	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagacctcacttacgttacaGgtttgtgacacttaaccgtt	10	14	7	10	2	1	2	1	1	0	1	1	2	1	2	2	1	3	3	2	1	4	6	rs755738282		C3N-01842_TP	C3N-01842_NB	G	G																c.730G>T	p.Glu244Ter	p.E244*	ENST00000618007	13/24	955	859	96	692	691	1	strelka-varscan-mutect	TPTE,stop_gained,p.Glu226Ter,ENST00000622113,NM_199259.3;TPTE,stop_gained,p.Glu244Ter,ENST00000618007,NM_199261.3;TPTE,stop_gained,p.Glu206Ter,ENST00000427445,NM_199260.3;TPTE,stop_gained,p.Glu106Ter,ENST00000612746,NM_001290224.1;TPTE,downstream_gene_variant,,ENST00000612957,;AL078471.5,splice_region_variant,,ENST00000612267,;	T	ENST00000618007	Transcript	stop_gained,splice_region_variant	1060/2150	730/1656	244/551	E/*	Gaa/Taa	rs755738282	1		1	TPTE	HGNC	HGNC:12023	protein_coding	YES	CCDS74771.1	ENSP00000484403	P56180		UPI000016A18A	NM_199261.3			13/24		PROSITE_profiles:PS51181,hmmpanther:PTHR12305:SF56,hmmpanther:PTHR12305,Gene3D:3.90.190.10,Superfamily_domains:SSF52799																	HIGH	1	SNV	1			1										PASS		rs755738282	.												T	4	4	84	10569746	10569746	G	T	1	0	0	0	0	0	1	0	0	16911	1014	35	2		2	TPTE	21	10569746	Nonsense_Mutation	SNP	G	C3N-01842_TP		10569746	36140237	416	28270											
TMPRSS15	0	.	GRCh38	chr21	18326469	18326469	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagccagtagtaaagtttgcTttaaaccctcctcttgccaa	11	13	6	11	0	1	0	0	0	1	0	2	0	2	0	4	0	4	4	4	0	7	7	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.1884A>T	p.Lys628Asn	p.K628N	ENST00000284885	16/25	943	562	381	666	666	0	strelka-varscan-mutect	TMPRSS15,missense_variant,p.Lys628Asn,ENST00000284885,NM_002772.2;	A	ENST00000284885	Transcript	missense_variant	1918/3947	1884/3060	628/1019	K/N	aaA/aaT		1		-1	TMPRSS15	HGNC	HGNC:9490	protein_coding	YES	CCDS13571.1	ENSP00000284885	P98073		UPI000013DDBE	NM_002772.2	tolerated(0.13)		16/25		PROSITE_profiles:PS01180,Pfam_domain:PF00431,PIRSF_domain:PIRSF001138,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	18326469	18326469	T	A	1	0	0	0	0	1	0	0	0	16722	1606	56	4		4	TMPRSS15	21	18326469	Missense_Mutation	SNP	T	C3N-01842_TP	7756723	18326469	28383514	417	28271											
ADAMTS1	0	.	GRCh38	chr21	26844556	26844556	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagggcggcagccgagctGggatcgccattcacggtgcc	6	6	16	13	4	1	1	1	1	0	0	2	3	1	2	3	4	3	2	3	4	0	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.399C>A	p.=	p.P133P	ENST00000284984	1/9	236	163	73	325	325	0	strelka-varscan-mutect	ADAMTS1,synonymous_variant,p.=,ENST00000284984,NM_006988.4;ADAMTS1,upstream_gene_variant,,ENST00000451462,;ADAMTS1,upstream_gene_variant,,ENST00000517777,;ADAMTS1,upstream_gene_variant,,ENST00000517452,;ADAMTS1,upstream_gene_variant,,ENST00000464589,;ADAMTS1,upstream_gene_variant,,ENST00000492656,;	T	ENST00000284984	Transcript	synonymous_variant	854/5191	399/2904	133/967	P	ccC/ccA		1		-1	ADAMTS1	HGNC	HGNC:217	protein_coding	YES	CCDS33524.1	ENSP00000284984	Q9UHI8		UPI000013DDC6	NM_006988.4			1/9		Pfam_domain:PF01562,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF40																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	84	26844556	26844556	G	T	1	0	0	0	0	0	0	0	1	299	1335	47	2		2	ADAMTS1	21	26844556	Silent	SNP	G	C3N-01842_TP	8518087	26844556	19865427	418	28272											
LSS	0	.	GRCh38	chr21	46228553	46228553	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gagtcgccagcggccgaggtCggtggcgggctcggtcttgt	3	8	19	11	6	1	0	0	0	1	0	4	2	1	0	2	6	1	1	2	6	0	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.61G>C	p.Asp21His	p.D21H	ENST00000397728	2/22	288	226	62	396	396	0	strelka-varscan-mutect	LSS,missense_variant,p.Asp21His,ENST00000397728,NM_002340.5;LSS,missense_variant,p.Asp21His,ENST00000356396,NM_001001438.2;LSS,missense_variant,p.Asp21His,ENST00000522411,NM_001145436.1;LSS,missense_variant,p.Asp22His,ENST00000450351,;LSS,5_prime_UTR_variant,,ENST00000457828,NM_001145437.1;MCM3AP-AS1,upstream_gene_variant,,ENST00000414659,;MCM3AP-AS1,upstream_gene_variant,,ENST00000455567,;MCM3AP-AS1,upstream_gene_variant,,ENST00000432735,;MCM3AP-AS1,upstream_gene_variant,,ENST00000421927,;MCM3AP-AS1,upstream_gene_variant,,ENST00000444998,;MCM3AP-AS1,upstream_gene_variant,,ENST00000420074,;MCM3AP-AS1,upstream_gene_variant,,ENST00000590829,;AP001469.5,downstream_gene_variant,,ENST00000626933,;MCM3AP-AS1,upstream_gene_variant,,ENST00000588753,;MCM3AP-AS1,upstream_gene_variant,,ENST00000591223,;LSS,non_coding_transcript_exon_variant,,ENST00000464357,;LSS,non_coding_transcript_exon_variant,,ENST00000472272,;	G	ENST00000397728	Transcript	missense_variant	140/4936	61/2199	21/732	D/H	Gac/Cac		1		-1	LSS	HGNC	HGNC:6708	protein_coding	YES	CCDS13733.1	ENSP00000380837	P48449		UPI000012A14D	NM_002340.5	deleterious(0)		2/22		hmmpanther:PTHR11764,hmmpanther:PTHR11764:SF20																	MODERATE	1	SNV	1			1										PASS		rs1396507321	.												G	3	3	84	46228553	46228553	C	G	1	0	0	0	0	1	0	0	0	8972	884	31	4		4	LSS	21	46228553	Missense_Mutation	SNP	C	C3N-01842_TP	19383997	46228553	481430	419	28273											
LRRC74B	0	.	GRCh38	chr22	21060512	21060512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcagatcagccctgccagCgtctgtccctaagtgacctt	7	11	8	15	1	3	2	2	1	1	1	4	2	4	2	4	0	3	0	4	0	1	3	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1163C>A	p.Ala388Glu	p.A388E	ENST00000442047	9/9	126	66	60	95	95	0	strelka-varscan-mutect	LRRC74B,missense_variant,p.Ala388Glu,ENST00000442047,NM_001291006.1;LRRC74B,non_coding_transcript_exon_variant,,ENST00000497328,;LRRC74B,non_coding_transcript_exon_variant,,ENST00000473769,;LRRC74B,downstream_gene_variant,,ENST00000469766,;TUBA3GP,upstream_gene_variant,,ENST00000410028,;	A	ENST00000442047	Transcript	missense_variant	1163/1179	1163/1179	388/392	A/E	gCg/gAg		1		1	LRRC74B	HGNC	HGNC:34301	protein_coding	YES	CCDS77654.1	ENSP00000394078	Q6ZQY2		UPI000436DF24	NM_001291006.1	deleterious_low_confidence(0.01)		9/9																			MODERATE	1	SNV	5			1										PASS		rs1197971673	.												A	3	1	84	21060512	21060512	C	A	1	0	0	0	0	1	0	0	0	8922	768	27	1		1	LRRC74B	22	21060512	Missense_Mutation	SNP	C	C3N-01842_TP		21060512	29757956	420	28274											
MYO18B	0	.	GRCh38	chr22	25868365	25868365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggatctggaaaagaaggcgGtggctgtggggcacagccaa	11	6	17	7	1	1	1	0	0	1	1	1	3	1	3	1	7	1	2	1	7	4	0	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.3931G>T	p.Val1311Leu	p.V1311L	ENST00000335473	22/44	326	211	115	325	325	0	strelka-varscan-mutect	MYO18B,missense_variant,p.Val1311Leu,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,missense_variant,p.Val1312Leu,ENST00000407587,;MYO18B,missense_variant,p.Val1311Leu,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	T	ENST00000335473	Transcript	missense_variant	4181/8565	3931/7704	1311/2567	V/L	Gtg/Ttg		1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5	deleterious(0.02)		22/44		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF372,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	25868365	25868365	G	T	1	0	0	0	0	1	0	0	0	10067	1261	44	2		2	MYO18B	22	25868365	Missense_Mutation	SNP	G	C3N-01842_TP	4807853	25868365	24950103	421	28275											
ASPHD2	0	.	GRCh38	chr22	26434192	26434192	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatgtggaagtgctggaaCggaacttccagaccatcctg	11	9	12	9	1	0	2	0	1	0	1	2	5	2	5	3	3	3	1	3	3	3	1	rs770815305		C3N-01842_TP	C3N-01842_NB	C	C																c.577C>A	p.=	p.R193R	ENST00000215906	2/4	267	237	30	227	227	0	strelka-varscan-mutect	ASPHD2,synonymous_variant,p.=,ENST00000215906,NM_020437.4;	A	ENST00000215906	Transcript	synonymous_variant	1015/3357	577/1110	193/369	R	Cgg/Agg	rs770815305	1		1	ASPHD2	HGNC	HGNC:30437	protein_coding	YES	CCDS13834.2	ENSP00000215906	Q6ICH7	A0A024R1D0	UPI000037659F	NM_020437.4			2/4		Pfam_domain:PF05118,hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF21																	LOW	1	SNV	1			1										PASS		rs770815305	.												A	2	1	84	26434192	26434192	C	A	1	0	0	0	0	0	0	0	1	1202	527	19	1		1	ASPHD2	22	26434192	Silent	SNP	C	C3N-01842_TP	565827	26434192	24384276	422	28276											
SYN3	0	.	GRCh38	chr22	32518282	32518282	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtggggagagcctctgttgGgaggggcttccagatctctg	5	11	17	8	0	2	2	0	0	2	2	4	4	3	3	2	5	1	2	2	5	0	2	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1371C>A	p.=	p.S457S	ENST00000358763	13/14	140	86	54	99	99	0	strelka-varscan-mutect	SYN3,synonymous_variant,p.=,ENST00000358763,NM_001135774.1,NM_003490.3,NM_133633.2;SYN3,synonymous_variant,p.=,ENST00000332840,;SYN3,non_coding_transcript_exon_variant,,ENST00000467095,;SYN3,non_coding_transcript_exon_variant,,ENST00000459990,;SYN3,non_coding_transcript_exon_variant,,ENST00000468922,;SYN3,non_coding_transcript_exon_variant,,ENST00000483062,;SYN3,non_coding_transcript_exon_variant,,ENST00000461446,;	T	ENST00000358763	Transcript	synonymous_variant	1614/3126	1371/1743	457/580	S	tcC/tcA		1		-1	SYN3	HGNC	HGNC:11496	protein_coding	YES	CCDS13908.1	ENSP00000351614	O14994	A0A024R1I8	UPI00001365D3	NM_001135774.1,NM_003490.3,NM_133633.2			13/14		Low_complexity_(Seg):seg,hmmpanther:PTHR10841																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	84	32518282	32518282	G	T	1	0	0	0	0	0	0	0	1	15832	1219	43	2		2	SYN3	22	32518282	Silent	SNP	G	C3N-01842_TP	6084090	32518282	18300186	423	28277											
CSNK1E	0	.	GRCh38	chr22	38294468	38294468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcggacccccgtagctgccCcatcctctcctcgcgttcgt	3	9	9	20	6	1	0	0	0	1	0	5	1	2	1	6	1	2	3	6	1	1	2	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.952G>A	p.Gly318Arg	p.G318R	ENST00000396832	8/11	203	164	39	304	304	0	strelka-varscan-mutect	CSNK1E,missense_variant,p.Gly318Arg,ENST00000396832,NM_152221.2;CSNK1E,missense_variant,p.Gly318Arg,ENST00000359867,NM_001894.4;CSNK1E,missense_variant,p.Gly318Arg,ENST00000400206,NM_001289912.1;CSNK1E,missense_variant,p.Gly318Arg,ENST00000403904,;CSNK1E,missense_variant,p.Gly21Arg,ENST00000366216,;CSNK1E,missense_variant,p.Gly46Arg,ENST00000431632,;CSNK1E,downstream_gene_variant,,ENST00000405675,;CSNK1E,downstream_gene_variant,,ENST00000413574,;CSNK1E,downstream_gene_variant,,ENST00000451964,;CSNK1E,downstream_gene_variant,,ENST00000498529,;CSNK1E,3_prime_UTR_variant,,ENST00000431611,;CSNK1E,non_coding_transcript_exon_variant,,ENST00000494610,;CSNK1E,downstream_gene_variant,,ENST00000612795,;CSNK1E,downstream_gene_variant,,ENST00000442216,;CSNK1E,upstream_gene_variant,,ENST00000495232,;	T	ENST00000396832	Transcript	missense_variant	1213/2791	952/1251	318/416	G/R	Ggg/Agg		1		-1	CSNK1E	HGNC	HGNC:2453	protein_coding	YES	CCDS13970.1	ENSP00000380044	P49674	Q5U045	UPI000012DC67	NM_152221.2	tolerated_low_confidence(0.35)		8/11		hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF161																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	84	38294468	38294468	C	T	1	0	0	0	0	1	0	0	0	3753	623	22	3		3	CSNK1E	22	38294468	Missense_Mutation	SNP	C	C3N-01842_TP	5776186	38294468	12524000	424	28278											
XPNPEP3	0	.	GRCh38	chr22	40881900	40881900	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgctctccaaccctacAtactacatgagcaacgatat	12	11	6	12	1	1	1	0	1	1	0	2	2	1	1	2	0	7	3	2	0	6	5	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.312A>G	p.=	p.T104T	ENST00000357137	3/10	332	291	41	401	401	0	strelka-varscan-mutect	XPNPEP3,synonymous_variant,p.=,ENST00000357137,NM_022098.3;XPNPEP3,non_coding_transcript_exon_variant,,ENST00000465258,;XPNPEP3,3_prime_UTR_variant,,ENST00000428799,;	G	ENST00000357137	Transcript	synonymous_variant	396/7988	312/1524	104/507	T	acA/acG		1		1	XPNPEP3	HGNC	HGNC:28052	protein_coding	YES	CCDS14007.1	ENSP00000349658	Q9NQH7		UPI00000401E0	NM_022098.3			3/10		Gene3D:3.40.350.10,Pfam_domain:PF05195,hmmpanther:PTHR10804,hmmpanther:PTHR10804:SF17,SMART_domains:SM01011,Superfamily_domains:SSF53092																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	84	40881900	40881900	A	G	1	0	0	0	0	0	0	0	1	18003	204	8	5		5	XPNPEP3	22	40881900	Silent	SNP	A	C3N-01842_TP	2587432	40881900	9936568	425	28279											
MXRA5	0	.	GRCh38	chrX	3323235	3323235	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaggaaaaggtggtgtgActtctagactcaaggatgga	13	9	14	5	0	2	2	1	1	1	1	2	5	2	5	0	5	1	1	0	5	5	3	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.2450T>A	p.Val817Asp	p.V817D	ENST00000217939	5/7	198	124	74	236	236	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Val817Asp,ENST00000217939,NM_015419.3;	T	ENST00000217939	Transcript	missense_variant	2605/9793	2450/8487	817/2828	V/D	gTc/gAc		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	tolerated(0.12)		5/7		hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	84	3323235	3323235	A	T	1	0	0	0	0	1	0	0	0	10002	275	10	4		4	MXRA5	23	3323235	Missense_Mutation	SNP	A	C3N-01842_TP		3323235	152717660	426	28280											
MAP7D2	0	.	GRCh38	chrX	20016237	20016237	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcttttcctcttcctgccGcttcctttcttcttcctgct	0	22	3	16	1	4	0	0	0	4	0	8	0	8	0	5	0	2	2	5	0	0	8	rs757262581		C3N-01842_TP	C3N-01842_NB	G	G																c.1501C>A	p.=	p.R501R	ENST00000379643	11/17	279	148	131	361	361	0	strelka-varscan-mutect	MAP7D2,synonymous_variant,p.=,ENST00000379651,NM_152780.3;MAP7D2,synonymous_variant,p.=,ENST00000379643,NM_001168465.1;MAP7D2,synonymous_variant,p.=,ENST00000443379,NM_001168466.1;MAP7D2,synonymous_variant,p.=,ENST00000452324,NM_001168467.1;MIR23C,downstream_gene_variant,,ENST00000579846,;	T	ENST00000379643	Transcript	synonymous_variant	1539/3918	1501/2322	501/773	R	Cgg/Agg	rs757262581	1		-1	MAP7D2	HGNC	HGNC:25899	protein_coding	YES	CCDS55386.1	ENSP00000368964	Q96T17		UPI00015E039B	NM_001168465.1			11/17		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05672,hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF3,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs757262581	.												T	2	4	84	20016237	20016237	G	T	1	0	0	0	0	0	0	0	1	9192	1086	38	1		1	MAP7D2	23	20016237	Silent	SNP	G	C3N-01842_TP	16693002	20016237	136024658	427	28281											
IL1RAPL1	0	.	GRCh38	chrX	29399266	29399266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacctgtgaattaaaatatGgaggctttgttgtgagaaga	14	13	11	3	0	0	3	0	2	0	2	0	5	0	4	1	2	1	2	1	2	6	5	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.661G>A	p.Gly221Arg	p.G221R	ENST00000378993	5/11	151	84	67	93	93	0	strelka-varscan-mutect	IL1RAPL1,missense_variant,p.Gly221Arg,ENST00000378993,NM_014271.3;	A	ENST00000378993	Transcript	missense_variant	1334/3667	661/2091	221/696	G/R	Gga/Aga		1		1	IL1RAPL1	HGNC	HGNC:5996	protein_coding	YES	CCDS14218.1	ENSP00000368278	Q9NZN1	X5DNQ7	UPI000006D1BF	NM_014271.3	tolerated(0.37)		5/11		PROSITE_profiles:PS50835,hmmpanther:PTHR11890:SF22,hmmpanther:PTHR11890,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	84	29399266	29399266	G	A	1	0	0	0	0	1	0	0	0	7564	1349	47	3		3	IL1RAPL1	23	29399266	Missense_Mutation	SNP	G	C3N-01842_TP	9383029	29399266	126641629	428	28282											
FAM47A	0	.	GRCh38	chrX	34130679	34130679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactcgacgagtcttgggagGctccggaccgagactggacg	8	6	15	12	5	1	1	0	0	1	1	3	7	2	4	2	4	0	1	2	4	0	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.1600C>A	p.Pro534Thr	p.P534T	ENST00000346193	1/1	68	34	34	90	90	0	strelka-varscan-mutect	FAM47A,missense_variant,p.Pro534Thr,ENST00000346193,NM_203408.3;FAM47A,missense_variant,p.Pro521Thr,ENST00000613251,;	T	ENST00000346193	Transcript	missense_variant	1633/2556	1600/2376	534/791	P/T	Cct/Act		1		-1	FAM47A	HGNC	HGNC:29962	protein_coding	YES	CCDS43926.1	ENSP00000345029	Q5JRC9		UPI000013F1F4	NM_203408.3	deleterious(0.01)		1/1		Pfam_domain:PF14642																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	84	34130679	34130679	G	T	1	0	0	0	0	1	0	0	0	5447	1203	42	2		2	FAM47A	23	34130679	Missense_Mutation	SNP	G	C3N-01842_TP	4731413	34130679	121910216	429	28283											
CFAP47	0	.	GRCh38	chrX	35975832	35975832	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggacagttagattgtataatCgtcagaattgttgtgctcag	11	14	11	5	1	2	2	2	0	0	2	3	3	2	3	0	1	1	4	0	1	4	6	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.2632C>G	p.Arg878Gly	p.R878G	ENST00000297866	15/16	176	132	44	176	176	0	strelka-varscan-mutect	CFAP47,missense_variant,p.Arg878Gly,ENST00000378653,NM_001304548.1;CFAP47,missense_variant,p.Arg878Gly,ENST00000297866,NM_152632.3;CFAP47,3_prime_UTR_variant,,ENST00000493930,;	G	ENST00000297866	Transcript	missense_variant	2698/3608	2632/2931	878/976	R/G	Cgt/Ggt		1		1	CFAP47	HGNC	HGNC:26708	protein_coding	YES	CCDS14237.2	ENSP00000297866	Q6ZTR5		UPI000022DD27	NM_152632.3	tolerated(0.18)		15/16		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF24																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	84	35975832	35975832	C	G	1	0	0	0	0	1	0	0	0	3022	884	31	4		4	CFAP47	23	35975832	Missense_Mutation	SNP	C	C3N-01842_TP	1845153	35975832	120065063	430	28284											
SRPX	0	.	GRCh38	chrX	38160054	38160054	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagaccaagccaggttGgattgacatactcgggcagg	10	7	14	10	1	0	2	0	1	0	1	1	3	0	3	3	4	3	2	3	4	2	3			C3N-01842_TP	C3N-01842_NB	G	G																c.918C>A	p.=	p.S306S	ENST00000378533	7/10	106	68	38	143	143	0	strelka-varscan-mutect	SRPX,synonymous_variant,p.=,ENST00000378533,NM_006307.4;SRPX,synonymous_variant,p.=,ENST00000544439,NM_001170750.1;SRPX,synonymous_variant,p.=,ENST00000538295,NM_001170752.1;SRPX,synonymous_variant,p.=,ENST00000432886,NM_001170751.1;RP5-972B16.2,intron_variant,,ENST00000465127,;SRPX,non_coding_transcript_exon_variant,,ENST00000479015,;	T	ENST00000378533	Transcript	synonymous_variant	1025/1874	918/1395	306/464	S	tcC/tcA	COSM4512840,COSM4512841	1		-1	SRPX	HGNC	HGNC:11309	protein_coding	YES	CCDS14245.1	ENSP00000367794	P78539		UPI0000135F5C	NM_006307.4			7/10		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF375,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	84	38160054	38160054	G	T	1	0	0	0	0	0	0	0	1	15525	1335	47	2		2	SRPX	23	38160054	Silent	SNP	G	C3N-01842_TP	2184222	38160054	117880841	431	28285											
AKAP4	0	.	GRCh38	chrX	50191001	50191001	+	Frame_Shift_Del	DEL	C	C	-																															gtccagcaactgtttcctggCcacctttcccacagcttcat																										C3N-01842_TP	C3N-01842_NB	C	C																c.2524delG	p.Ala842ProfsTer23	p.A842Pfs*23	ENST00000358526	6/6	110	66	44	188	188	0	sindel-varindel-pindel	AKAP4,frameshift_variant,p.Ala842ProfsTer23,ENST00000358526,NM_003886.2;AKAP4,frameshift_variant,p.Ala833ProfsTer23,ENST00000376064,NM_139289.1;AKAP4,downstream_gene_variant,,ENST00000437370,;AKAP4,downstream_gene_variant,,ENST00000448865,;AKAP4,non_coding_transcript_exon_variant,,ENST00000481402,;AKAP4,downstream_gene_variant,,ENST00000480926,;	-	ENST00000358526	Transcript	frameshift_variant	2648/2881	2524/2565	842/854	A/X	Gcc/cc	COSM757052	1		-1	AKAP4	HGNC	HGNC:374	protein_coding	YES	CCDS14329.1	ENSP00000351327	Q5JQC9		UPI000013DA96	NM_003886.2			6/6		hmmpanther:PTHR10226:SF8,hmmpanther:PTHR10226,Pfam_domain:PF05716,SMART_domains:SM00807											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	84	50191001	50191001	C	-	1	0	1	0	1	0	0	0	0	537	739	26	0		0	AKAP4	23	50191001	Frame_Shift_Del	DEL	C	C3N-01842_TP	12030947	50191001	105849894	432	28286											
PHF8	0	.	GRCh38	chrX	53985074	53985074	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgttagacactgtgcccagCccactgctggagctcccact	7	9	9	16	0	0	1	0	0	0	1	1	2	1	2	3	1	4	3	3	1	1	1	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.2391G>T	p.=	p.G797G	ENST00000357988	18/22	182	97	85	228	228	0	strelka-varscan-mutect	PHF8,synonymous_variant,p.=,ENST00000338154,NM_015107.2;PHF8,synonymous_variant,p.=,ENST00000357988,NM_001184896.1;PHF8,synonymous_variant,p.=,ENST00000338946,NM_001184897.1;PHF8,synonymous_variant,p.=,ENST00000396282,;PHF8,synonymous_variant,p.=,ENST00000322659,NM_001184898.1;PHF8,synonymous_variant,p.=,ENST00000443302,;PHF8,downstream_gene_variant,,ENST00000494928,;	A	ENST00000357988	Transcript	synonymous_variant	2750/6024	2391/3183	797/1060	G	ggG/ggT		1		-1	PHF8	HGNC	HGNC:20672	protein_coding	YES	CCDS55420.1	ENSP00000350676	Q9UPP1		UPI00001C2071	NM_001184896.1			18/22		hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF11,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	53985074	53985074	C	A	1	0	0	0	0	0	0	0	1	11927	726	26	2		2	PHF8	23	53985074	Silent	SNP	C	C3N-01842_TP	3794073	53985074	102055821	433	28287											
YIPF6	0	.	GRCh38	chrX	68518777	68518777	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtcttgtaggggatttGtggggccctttgatcctttg	3	18	13	7	0	2	1	0	1	2	0	3	2	3	2	2	4	0	1	2	4	1	6	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.273G>A	p.=	p.L91L	ENST00000462683	4/7	120	68	52	117	117	0	strelka-varscan-mutect	YIPF6,synonymous_variant,p.=,ENST00000462683,NM_173834.3;YIPF6,synonymous_variant,p.=,ENST00000374622,NM_001195214.1;YIPF6,synonymous_variant,p.=,ENST00000451537,;YIPF6,non_coding_transcript_exon_variant,,ENST00000374643,;YIPF6,downstream_gene_variant,,ENST00000470730,;	A	ENST00000462683	Transcript	synonymous_variant	1017/6741	273/711	91/236	L	ttG/ttA		1		1	YIPF6	HGNC	HGNC:28304	protein_coding	YES	CCDS14389.1	ENSP00000417573	Q96EC8		UPI000003778F	NM_173834.3			4/7		Transmembrane_helices:TMhelix,hmmpanther:PTHR21236:SF1,hmmpanther:PTHR21236,Pfam_domain:PF04893																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	84	68518777	68518777	G	A	1	0	0	0	0	0	0	0	1	18044	1368	48	3		3	YIPF6	23	68518777	Silent	SNP	G	C3N-01842_TP	14533703	68518777	87522118	434	28288											
ZCCHC5	0	.	GRCh38	chrX	78657437	78657437	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttggcagagttgatggatGcactggttggcatctttcat	7	14	12	8	0	2	2	1	1	1	1	2	3	2	3	1	4	1	5	1	4	0	4	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.984C>A	p.Cys328Ter	p.C328*	ENST00000321110	2/2	183	92	91	183	183	0	strelka-varscan-mutect	ZCCHC5,stop_gained,p.Cys328Ter,ENST00000321110,NM_152694.2;	T	ENST00000321110	Transcript	stop_gained	1280/2648	984/1428	328/475	C/*	tgC/tgA		1		-1	ZCCHC5	HGNC	HGNC:22997	protein_coding	YES	CCDS14440.1	ENSP00000316794	Q8N8U3		UPI00000710DD	NM_152694.2			2/2		hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF7																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	84	78657437	78657437	G	T	1	0	0	0	0	0	1	0	0	18166	1311	46	2		2	ZCCHC5	23	78657437	Nonsense_Mutation	SNP	G	C3N-01842_TP	10138660	78657437	77383458	435	28289											
IL1RAPL2	0	.	GRCh38	chrX	104658975	104658975	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagcacaaatctgaagaTggtgtcaaagagaaattctg	16	9	10	6	0	4	3	2	1	2	2	4	4	4	3	0	1	1	1	0	1	4	1	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.62T>C	p.Met21Thr	p.M21T	ENST00000372582	2/11	130	104	26	106	106	0	strelka-varscan-mutect	IL1RAPL2,missense_variant,p.Met21Thr,ENST00000372582,NM_017416.1;	C	ENST00000372582	Transcript	missense_variant	818/2985	62/2061	21/686	M/T	aTg/aCg		1		1	IL1RAPL2	HGNC	HGNC:5997	protein_coding	YES	CCDS14517.1	ENSP00000361663	Q9NP60		UPI0000073DF7	NM_017416.1	tolerated(0.43)		2/11		PROSITE_profiles:PS50835,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	84	104658975	104658975	T	C	1	0	0	0	0	1	0	0	0	7565	1464	51	5		5	IL1RAPL2	23	104658975	Missense_Mutation	SNP	T	C3N-01842_TP	26001538	104658975	51381920	436	28290											
PIH1D3	0	.	GRCh38	chrX	107212948	107212948	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaatgtagactttgagAgtgtttcttcagttacagct	11	15	8	7	0	3	2	2	1	1	2	3	3	3	2	0	0	2	4	0	0	4	5	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.73A>T	p.Ser25Cys	p.S25C	ENST00000535523	3/8	86	68	18	84	84	0	strelka-varscan-mutect	PIH1D3,missense_variant,p.Ser25Cys,ENST00000535523,NM_001169154.1;PIH1D3,missense_variant,p.Ser25Cys,ENST00000372453,NM_173494.1;PIH1D3,missense_variant,p.Ser25Cys,ENST00000336387,;	T	ENST00000535523	Transcript	missense_variant	410/1926	73/645	25/214	S/C	Agt/Tgt		1		1	PIH1D3	HGNC	HGNC:28570	protein_coding	YES	CCDS14528.1	ENSP00000441930	Q9NQM4		UPI0000073CF5	NM_001169154.1	deleterious(0.01)		3/8		hmmpanther:PTHR21083:SF0,hmmpanther:PTHR21083																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	84	107212948	107212948	A	T	1	0	0	0	0	1	0	0	0	12002	304	11	4		4	PIH1D3	23	107212948	Missense_Mutation	SNP	A	C3N-01842_TP	2553973	107212948	48827947	437	28291											
ACSL4	0	.	GRCh38	chrX	109663267	109663267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatatcaccagtgcaaaacCacctttgtccattttcatcc	12	12	3	14	0	2	0	2	0	0	0	4	0	4	0	5	0	2	1	5	0	4	4	novel		C3N-01842_TP	C3N-01842_NB	C	C																c.1649G>C	p.Trp550Ser	p.W550S	ENST00000340800	14/17	92	44	48	89	89	0	strelka-varscan-mutect	ACSL4,missense_variant,p.Trp550Ser,ENST00000340800,NM_001318509.1,NM_022977.2;ACSL4,missense_variant,p.Trp550Ser,ENST00000469796,;ACSL4,missense_variant,p.Trp509Ser,ENST00000348502,NM_001318510.1,NM_004458.2;ACSL4,upstream_gene_variant,,ENST00000505075,;ACSL4,splice_region_variant,,ENST00000514500,;	G	ENST00000340800	Transcript	missense_variant	2154/5333	1649/2136	550/711	W/S	tGg/tCg		1		-1	ACSL4	HGNC	HGNC:3571	protein_coding	YES	CCDS14548.1	ENSP00000339787	O60488		UPI000012E293	NM_001318509.1,NM_022977.2	deleterious(0.03)		14/17		Gene3D:2.30.38.10,Pfam_domain:PF00501,hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF241,Superfamily_domains:SSF56801																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	84	109663267	109663267	C	G	1	0	0	0	0	1	0	0	0	221	595	21	4		4	ACSL4	23	109663267	Missense_Mutation	SNP	C	C3N-01842_TP	2450319	109663267	46377628	438	28292											
CAPN6	0	.	GRCh38	chrX	111247385	111247385	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtactataataggaaTgtcagtggtccttctgtaga	11	14	9	7	0	2	1	1	0	1	1	3	2	3	2	2	2	2	2	2	2	7	7	novel		C3N-01842_TP	C3N-01842_NB	T	T																c.1726A>G	p.Ile576Val	p.I576V	ENST00000324068	12/13	72	36	36	62	62	0	strelka-varscan-mutect	CAPN6,missense_variant,p.Ile576Val,ENST00000324068,NM_014289.3;	C	ENST00000324068	Transcript	missense_variant	1894/3568	1726/1926	576/641	I/V	Att/Gtt		1		-1	CAPN6	HGNC	HGNC:1483	protein_coding	YES	CCDS14555.1	ENSP00000317214	Q9Y6Q1		UPI0000126EA1	NM_014289.3	tolerated(0.15)		12/13		hmmpanther:PTHR10183:SF281,hmmpanther:PTHR10183,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	84	111247385	111247385	T	C	1	0	0	0	0	1	0	0	0	2324	1464	51	5		5	CAPN6	23	111247385	Missense_Mutation	SNP	T	C3N-01842_TP	1584118	111247385	44793510	439	28293											
KLHL13	0	.	GRCh38	chrX	117909745	117909745	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaaagcaaattcacacAagtattgtcagttctcatga	15	12	5	9	0	3	1	3	1	1	0	5	1	4	1	1	0	1	3	1	0	5	5	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.931T>C	p.Cys311Arg	p.C311R	ENST00000539496	6/8	333	254	79	324	324	0	strelka-varscan-mutect	KLHL13,missense_variant,p.Cys257Arg,ENST00000371876,;KLHL13,missense_variant,p.Cys308Arg,ENST00000262820,NM_033495.3;KLHL13,missense_variant,p.Cys257Arg,ENST00000447671,;KLHL13,missense_variant,p.Cys292Arg,ENST00000540167,NM_001168302.1;KLHL13,missense_variant,p.Cys266Arg,ENST00000545703,NM_001168303.1,NM_001168300.1;KLHL13,missense_variant,p.Cys257Arg,ENST00000371882,;KLHL13,missense_variant,p.Cys257Arg,ENST00000371878,;KLHL13,missense_variant,p.Cys292Arg,ENST00000541812,NM_001168301.1;KLHL13,missense_variant,p.Cys311Arg,ENST00000539496,NM_001168299.1;KLHL13,missense_variant,p.Cys257Arg,ENST00000469946,;Y_RNA,downstream_gene_variant,,ENST00000363421,;	G	ENST00000539496	Transcript	missense_variant	931/3071	931/1977	311/658	C/R	Tgt/Cgt		1		-1	KLHL13	HGNC	HGNC:22931	protein_coding	YES	CCDS55480.1	ENSP00000443191	Q9P2N7		UPI0001914B0F	NM_001168299.1	deleterious(0)		6/8		PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF68																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	84	117909745	117909745	A	G	1	0	0	0	0	1	0	0	0	8233	130	5	5		5	KLHL13	23	117909745	Missense_Mutation	SNP	A	C3N-01842_TP	6662360	117909745	38131150	440	28294											
KIAA1210	0	.	GRCh38	chrX	119088721	119088721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctaaagcctgggagaGgcatctgaggtccagctcct	8	9	11	13	0	2	2	0	1	2	1	5	3	5	2	4	3	2	2	4	3	2	1	novel		C3N-01842_TP	C3N-01842_NB	G	G																c.2509C>T	p.Leu837Phe	p.L837F	ENST00000402510	11/14	147	76	71	126	126	0	strelka-varscan-mutect	KIAA1210,missense_variant,p.Leu837Phe,ENST00000402510,NM_020721.1;	A	ENST00000402510	Transcript	missense_variant	2509/7824	2509/5130	837/1709	L/F	Ctc/Ttc		1		-1	KIAA1210	HGNC	HGNC:29218	protein_coding	YES	CCDS48156.1	ENSP00000384670	Q9ULL0		UPI0001596C4C	NM_020721.1	tolerated(0.07)		11/14		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	84	119088721	119088721	G	A	1	0	0	0	0	1	0	0	0	8106	1000	35	3		3	KIAA1210	23	119088721	Missense_Mutation	SNP	G	C3N-01842_TP	1178976	119088721	36952174	441	28295											
GLUD2	0	.	GRCh38	chrX	121048861	121048861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagttgaccaaatccaacGcacccagagtcaaagccaag	16	4	8	13	1	1	2	1	1	0	1	2	2	2	2	4	0	3	3	4	0	4	1	rs200024208		C3N-01842_TP	C3N-01842_NB	G	G																c.1177G>T	p.Ala393Ser	p.A393S	ENST00000328078	1/1	329	196	133	443	443	0	strelka-varscan-mutect	GLUD2,missense_variant,p.Ala393Ser,ENST00000328078,NM_012084.3;	T	ENST00000328078	Transcript	missense_variant	1274/2493	1177/1677	393/558	A/S	Gca/Tca	rs200024208	1		1	GLUD2	HGNC	HGNC:4336	protein_coding	YES	CCDS14603.1	ENSP00000327589	P49448	A0A140VK14	UPI0000129301	NM_012084.3	deleterious(0)		1/1		Gene3D:3.40.50.720,Pfam_domain:PF00208,hmmpanther:PTHR11606,hmmpanther:PTHR11606:SF15,SMART_domains:SM00839,Superfamily_domains:SSF51735																	MODERATE	1	SNV				1										PASS		rs200024208	.												T	3	4	84	121048861	121048861	G	T	1	0	0	0	0	1	0	0	0	6354	1087	38	1		1	GLUD2	23	121048861	Missense_Mutation	SNP	G	C3N-01842_TP	1960140	121048861	34992034	442	28296											
FGF13	0	.	GRCh38	chrX	138632938	138632938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggtcccgcttccagatCgggagaactccgtgagatcg	7	9	14	11	4	0	3	0	1	0	3	5	5	3	3	3	3	1	1	3	3	1	2	rs762632439		C3N-01842_TP	C3N-01842_NB	C	C																c.680G>T	p.Arg227Leu	p.R227L	ENST00000436198	7/7	92	50	42	128	128	0	strelka-varscan-mutect	FGF13,missense_variant,p.Arg217Leu,ENST00000315930,NM_004114.3;FGF13,missense_variant,p.Arg164Leu,ENST00000305414,NM_033642.2;FGF13,missense_variant,p.Arg227Leu,ENST00000436198,NM_001139500.1;FGF13,missense_variant,p.Arg171Leu,ENST00000626909,NM_001139498.1;Z83313.1,missense_variant,p.Arg198Leu,ENST00000441825,NM_001139501.1,NM_001139502.1;FGF13,downstream_gene_variant,,ENST00000455663,;	A	ENST00000436198	Transcript	missense_variant	930/1165	680/768	227/255	R/L	cGa/cTa	rs762632439,COSM1155279,COSM281153,COSM281154,COSM5697363,COSM5697364,COSM5697365	1		-1	FGF13	HGNC	HGNC:3670	protein_coding	YES	CCDS55513.1	ENSP00000396198	Q92913		UPI00001484B4	NM_001139500.1	tolerated_low_confidence(0.24)		7/7		hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF77											0,1,1,1,1,1,1						MODERATE	1	SNV	2		0,1,1,1,1,1,1	1										PASS		rs762632439	.												A	3	1	84	138632938	138632938	C	A	1	0	0	0	0	1	0	0	0	5706	884	31	1		1	FGF13	23	138632938	Missense_Mutation	SNP	C	C3N-01842_TP	17584077	138632938	17407957	443	28297											
ATP11C	0	.	GRCh38	chrX	139804538	139804538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccatcagtggtgcaagatGatagaagaataagatcacag	16	9	10	6	0	2	5	2	1	0	4	3	5	3	5	1	1	1	1	1	1	5	3	rs770635734		C3N-01842_TP	C3N-01842_NB	G	G																c.497C>T	p.Ser166Leu	p.S166L	ENST00000327569	6/30	123	70	53	114	114	0	strelka-varscan-mutect	ATP11C,missense_variant,p.Ser163Leu,ENST00000370557,;ATP11C,missense_variant,p.Ser166Leu,ENST00000327569,NM_173694.4;ATP11C,missense_variant,p.Ser166Leu,ENST00000361648,NM_001010986.2;ATP11C,non_coding_transcript_exon_variant,,ENST00000485626,;	A	ENST00000327569	Transcript	missense_variant	596/6115	497/3399	166/1132	S/L	tCa/tTa	rs770635734	1		-1	ATP11C	HGNC	HGNC:13554	protein_coding	YES	CCDS14668.1	ENSP00000332756	Q8NB49		UPI000036777E	NM_173694.4	deleterious(0.03)		6/30		hmmpanther:PTHR24092:SF38,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01494,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122,Superfamily_domains:0049471																	MODERATE	1	SNV	1			1										PASS		rs770635734	.												A	3	1	84	139804538	139804538	G	A	1	0	0	0	0	1	0	0	0	1273	1294	45	3		3	ATP11C	23	139804538	Missense_Mutation	SNP	G	C3N-01842_TP	1171600	139804538	16236357	444	28298											
CXorf66	0	.	GRCh38	chrX	139955924	139955924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagggttacttcagaggtgActtgattgtaccctctgtca	8	15	10	8	0	3	3	2	2	1	1	3	3	3	3	1	2	2	2	1	2	3	6	novel		C3N-01842_TP	C3N-01842_NB	A	A																c.1058T>C	p.Val353Ala	p.V353A	ENST00000370540	3/3	68	33	35	44	44	0	strelka-varscan-mutect	CXorf66,missense_variant,p.Val353Ala,ENST00000370540,NM_001013403.2;	G	ENST00000370540	Transcript	missense_variant	1082/1281	1058/1086	353/361	V/A	gTc/gCc		1		-1	CXorf66	HGNC	HGNC:33743	protein_coding	YES	CCDS35411.1	ENSP00000359571	Q5JRM2		UPI00001D7C1C	NM_001013403.2	tolerated(0.2)		3/3		hmmpanther:PTHR37340,hmmpanther:PTHR37340:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	84	139955924	139955924	A	G	1	0	0	0	0	1	0	0	0	3920	275	10	5		5	CXorf66	23	139955924	Missense_Mutation	SNP	A	C3N-01842_TP	151386	139955924	16084971	445	28299											
SLITRK4	0	.	GRCh38	chrX	143630519	143630519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaatgtgttccagaaccCcgatataagggagcttctgg	10	9	12	10	1	1	1	0	0	1	1	2	3	2	2	4	3	2	2	4	3	4	4			C3N-01842_TP	C3N-01842_NB	C	C																c.590G>T	p.Gly197Val	p.G197V	ENST00000596188	2/2	188	102	86	167	167	0	strelka-varscan-mutect	SLITRK4,missense_variant,p.Gly197Val,ENST00000596188,NM_001184750.2;SLITRK4,missense_variant,p.Gly197Val,ENST00000338017,NM_173078.4;SLITRK4,missense_variant,p.Gly197Val,ENST00000356928,NM_001184749.2;	A	ENST00000596188	Transcript	missense_variant	816/8545	590/2514	197/837	G/V	gGg/gTg	COSM3558807	1		-1	SLITRK4	HGNC	HGNC:23502	protein_coding	YES	CCDS14679.1	ENSP00000469205	Q8IW52		UPI000004E650	NM_001184750.2	deleterious(0)		2/2		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	84	143630519	143630519	C	A	1	0	0	0	0	1	0	0	0	15036	623	22	2		2	SLITRK4	23	143630519	Missense_Mutation	SNP	C	C3N-01842_TP	3674595	143630519	12410376	446	28300											
PLA2G5	0	.	GRCh38	chr1	20089828	20089828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgctatgggcggctggaGgagaagggctgcaacattcg	9	7	16	9	2	0	1	0	0	0	1	1	3	0	2	0	5	3	4	0	5	3	2	rs200355236		C3N-02000_TP	C3N-02000_NB	G	G																c.225G>T	p.Glu75Asp	p.E75D	ENST00000375108	4/5	163	125	38	231	231	0	strelka-varscan-mutect	PLA2G5,missense_variant,p.Glu75Asp,ENST00000375108,NM_000929.2;PLA2G5,non_coding_transcript_exon_variant,,ENST00000486277,;PLA2G5,non_coding_transcript_exon_variant,,ENST00000465698,;PLA2G5,non_coding_transcript_exon_variant,,ENST00000489871,;PLA2G5,non_coding_transcript_exon_variant,,ENST00000478803,;PLA2G5,non_coding_transcript_exon_variant,,ENST00000469069,;PLA2G5,downstream_gene_variant,,ENST00000460175,;	T	ENST00000375108	Transcript	missense_variant	493/1161	225/417	75/138	E/D	gaG/gaT	rs200355236	1		1	PLA2G5	HGNC	HGNC:9038	protein_coding	YES	CCDS202.1	ENSP00000364249	P39877		UPI00001310E7	NM_000929.2	tolerated(0.05)		4/5		hmmpanther:PTHR11716,hmmpanther:PTHR11716:SF10,Gene3D:1.20.90.10,Pfam_domain:PF00068,SMART_domains:SM00085,Superfamily_domains:SSF48619																	MODERATE	1	SNV	1			1										PASS		rs200355236	.												T	3	4	85	20089828	20089828	G	T	1	0	0	0	0	1	0	0	0	12103	991	35	2		2	PLA2G5	1	20089828	Missense_Mutation	SNP	G	C3N-02000_TP		20089828	228866594	1	28301											
THRAP3	0	.	GRCh38	chr1	36286447	36286447	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtatatcagaatcgggatTtccgaggtcacaacagaggc	13	8	12	8	2	2	2	2	0	0	2	4	5	3	3	1	3	1	1	1	3	4	3	novel		C3N-02000_TP	C3N-02000_NB	T	T																c.217T>A	p.Phe73Ile	p.F73I	ENST00000354618	4/12	165	127	38	168	168	0	strelka-varscan-mutect	THRAP3,missense_variant,p.Phe73Ile,ENST00000354618,NM_001321471.1,NM_001321473.1,NM_005119.3;THRAP3,missense_variant,p.Phe73Ile,ENST00000469141,;THRAP3,downstream_gene_variant,,ENST00000478853,;THRAP3,upstream_gene_variant,,ENST00000466743,;	A	ENST00000354618	Transcript	missense_variant	441/4432	217/2868	73/955	F/I	Ttc/Atc		1		1	THRAP3	HGNC	HGNC:22964	protein_coding	YES	CCDS405.1	ENSP00000346634	Q9Y2W1		UPI0000203F28	NM_001321471.1,NM_001321473.1,NM_005119.3	deleterious(0)		4/12		hmmpanther:PTHR15268																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	85	36286447	36286447	T	A	1	0	0	0	0	1	0	0	0	16308	1841	64	4		4	THRAP3	1	36286447	Missense_Mutation	SNP	T	C3N-02000_TP	16196619	36286447	212669975	2	28302											
IVL	0	.	GRCh38	chr1	152910535	152910535	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcagctggagctctcTgagcagcaggaggggcagct	8	5	19	9	0	1	1	0	1	1	0	2	4	1	3	0	6	5	7	0	6	0	0	novel		C3N-02000_TP	C3N-02000_NB	T	T																c.738T>A	p.=	p.S246S	ENST00000368764	2/2	76	72	4	99	99	0	varscan-mutect	IVL,synonymous_variant,p.=,ENST00000368764,NM_005547.2;	A	ENST00000368764	Transcript	synonymous_variant	802/2153	738/1758	246/585	S	tcT/tcA		1		1	IVL	HGNC	HGNC:6187	protein_coding	YES	CCDS1030.1	ENSP00000357753	P07476		UPI000013E24A	NM_005547.2			2/2		Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		rs926498810	.												A	2	1	85	152910535	152910535	T	A	1	0	0	0	0	0	0	0	1	7835	1567	55	4		4	IVL	1	152910535	Silent	SNP	T	C3N-02000_TP	116624088	152910535	96045887	3	28303											
ELF3	0	.	GRCh38	chr1	202013241	202013241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagcggaaacgaggccggCcccgaaagctgagcaaagag	14	1	16	10	4	0	2	0	1	0	1	0	6	0	4	3	4	4	2	3	4	4	0	novel		C3N-02000_TP	C3N-02000_NB	C	C																c.748C>T	p.Pro250Ser	p.P250S	ENST00000359651	6/8	145	137	8	157	157	0	strelka-varscan	ELF3,missense_variant,p.Pro250Ser,ENST00000359651,;ELF3,missense_variant,p.Pro250Ser,ENST00000367284,NM_001114309.1,NM_004433.4;ELF3,missense_variant,p.Pro250Ser,ENST00000367283,;ELF3,downstream_gene_variant,,ENST00000446188,;RP11-510N19.5,intron_variant,,ENST00000504773,;RP11-465N4.4,upstream_gene_variant,,ENST00000419190,;ELF3,non_coding_transcript_exon_variant,,ENST00000490203,;ELF3,non_coding_transcript_exon_variant,,ENST00000470384,;ELF3,downstream_gene_variant,,ENST00000495848,;ELF3,upstream_gene_variant,,ENST00000475698,;ELF3,downstream_gene_variant,,ENST00000498017,;ELF3,downstream_gene_variant,,ENST00000479874,;	T	ENST00000359651	Transcript	missense_variant	3940/4994	748/1116	250/371	P/S	Ccc/Tcc		1		1	ELF3	HGNC	HGNC:3318	protein_coding	YES	CCDS1419.1	ENSP00000352673	P78545	A0A024R974	UPI0000034E32		deleterious(0)		6/8		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	85	202013241	202013241	C	T	1	0	0	0	0	1	0	0	0	4888	739	26	3		3	ELF3	1	202013241	Missense_Mutation	SNP	C	C3N-02000_TP	49102706	202013241	46943181	4	28304											
PIK3C2B	0	.	GRCh38	chr1	204438943	204438943	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacaaccctaccttctcatActcgtcctccccagggttgt	7	11	5	18	1	1	0	1	0	1	0	5	0	3	0	6	1	3	1	6	1	3	4	novel		C3N-02000_TP	C3N-02000_NB	A	A																c.3508T>G	p.Tyr1170Asp	p.Y1170D	ENST00000367187	24/34	103	76	27	101	101	0	strelka-varscan-mutect	PIK3C2B,missense_variant,p.Tyr1170Asp,ENST00000367187,NM_002646.3;PIK3C2B,missense_variant,p.Tyr1142Asp,ENST00000424712,;RP11-739N20.2,downstream_gene_variant,,ENST00000443515,;	C	ENST00000367187	Transcript	missense_variant	4065/7686	3508/4905	1170/1634	Y/D	Tat/Gat		1		-1	PIK3C2B	HGNC	HGNC:8972	protein_coding	YES	CCDS1446.1	ENSP00000356155	O00750	A2RUF7	UPI00002056D1	NM_002646.3	deleterious(0)		24/34		Gene3D:1.10.1070.11,Pfam_domain:PF00454,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF30,SMART_domains:SM00146,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	85	204438943	204438943	A	C	1	0	0	0	0	1	0	0	0	12005	391	14	5		5	PIK3C2B	1	204438943	Missense_Mutation	SNP	A	C3N-02000_TP	2425702	204438943	44517479	5	28305											
APOB	0	.	GRCh38	chr2	21001838	21001838	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgtatatcagaaatgtgtgGtagttttgaatggacaggtc	12	14	12	3	0	1	2	1	1	0	1	2	3	1	3	0	3	0	3	0	3	5	5			C3N-02000_TP	C3N-02000_NB	G	G																c.13584C>T	p.=	p.Y4528Y	ENST00000233242	29/29	234	206	28	176	176	0	strelka-varscan-mutect	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	A	ENST00000233242	Transcript	synonymous_variant	13712/14121	13584/13692	4528/4563	Y	taC/taT	COSM1530638	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			29/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Pfam_domain:PF12491											1						LOW	1	SNV	1		1	1										PASS		rs1490771906	.												A	2	1	85	21001838	21001838	G	A	1	0	0	0	0	0	0	0	1	907	1256	44	3		3	APOB	2	21001838	Silent	SNP	G	C3N-02000_TP		21001838	221191691	6	28306											
REV1	0	.	GRCh38	chr2	99424174	99424174	+	Frame_Shift_Del	DEL	T	T	-																															tgccaatgtttcatacaatgTttgtgcgacttccttatatg																								novel		C3N-02000_TP	C3N-02000_NB	T	T																c.1654delA	p.Thr552HisfsTer23	p.T552Hfs*23	ENST00000258428	10/23	176	102	74	76	76	0	sindel-varindel-pindel	REV1,frameshift_variant,p.Thr552HisfsTer23,ENST00000258428,NM_016316.2;REV1,frameshift_variant,p.Thr551HisfsTer23,ENST00000393445,NM_001037872.1;REV1,downstream_gene_variant,,ENST00000450415,;REV1,non_coding_transcript_exon_variant,,ENST00000465835,;REV1,3_prime_UTR_variant,,ENST00000413697,;REV1,non_coding_transcript_exon_variant,,ENST00000481719,;	-	ENST00000258428	Transcript	frameshift_variant	1883/4751	1654/3756	552/1251	T/X	Aca/ca		1		-1	REV1	HGNC	HGNC:14060	protein_coding	YES	CCDS2045.1	ENSP00000258428	Q9UBZ9		UPI0000073A14	NM_016316.2			10/23		PROSITE_profiles:PS50173,hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF12,Pfam_domain:PF00817,Gene3D:3.30.70.270,PIRSF_domain:PIRSF036573,Superfamily_domains:SSF56672																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	85	99424174	99424174	T	-	1	0	1	0	1	0	0	0	0	13410	1725	60	0		0	REV1	2	99424174	Frame_Shift_Del	DEL	T	C3N-02000_TP	78422336	99424174	142769355	7	28307											
SLC5A7	0	.	GRCh38	chr2	108006062	108006062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacagatgctgggtggaaTcccatggcaagcatactttc	10	9	11	11	1	0	1	0	0	0	1	2	2	1	2	1	3	3	4	1	3	3	2	novel		C3N-02000_TP	C3N-02000_NB	T	T																c.755T>C	p.Ile252Thr	p.I252T	ENST00000264047	7/9	75	60	15	169	169	0	strelka-varscan	SLC5A7,missense_variant,p.Ile252Thr,ENST00000264047,NM_001305006.1,NM_001305007.1,NM_001305005.1,NM_021815.3;SLC5A7,missense_variant,p.Ile252Thr,ENST00000409059,;	C	ENST00000264047	Transcript	missense_variant	1031/5152	755/1743	252/580	I/T	aTc/aCc		1		1	SLC5A7	HGNC	HGNC:14025	protein_coding	YES	CCDS2074.1	ENSP00000264047	Q9GZV3		UPI0000070792	NM_001305006.1,NM_001305007.1,NM_001305005.1,NM_021815.3	deleterious(0)		7/9		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF129,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	85	108006062	108006062	T	C	1	0	0	0	0	1	0	0	0	14953	1435	50	5		5	SLC5A7	2	108006062	Missense_Mutation	SNP	T	C3N-02000_TP	8581888	108006062	134187467	8	28308											
OR5H6	0	.	GRCh38	chr3	98264758	98264758	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccaatgaactatgcatTcagctattagtcttgtcatt	12	15	6	8	0	3	2	2	2	1	0	3	2	3	2	1	0	3	2	1	0	5	6	rs75354046		C3N-02000_TP	C3N-02000_NB	T	T																c.474T>C	p.=	p.I158I	ENST00000383696	1/1	105	92	13	61	60	1	varscan-mutect	OR5H6,synonymous_variant,p.=,ENST00000383696,NM_001005479.1;RP11-325B23.2,intron_variant,,ENST00000508616,;	C	ENST00000383696	Transcript	synonymous_variant	474/978	474/978	158/325	I	atT/atC	rs75354046,COSM1717715	1		1	OR5H6	HGNC	HGNC:14767	protein_coding	YES	CCDS33800.1	ENSP00000373196	Q8NGV6		UPI000004B1EC	NM_001005479.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF301,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											0,1						LOW		SNV			0,1	1										PASS		rs75354046	.												C	2	2	85	98264758	98264758	T	C	1	0	0	0	0	0	0	0	1	11233	1771	62	5		5	OR5H6	3	98264758	Silent	SNP	T	C3N-02000_TP		98264758	100030801	9	28309											
MUC4	0	.	GRCh38	chr3	195791248	195791248	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggaggagctgtctccAtcacattgtgtacacttggg	8	12	11	10	0	3	0	1	0	2	0	4	2	3	2	1	3	2	2	1	3	1	3	rs201789760		C3N-02000_TP	C3N-02000_NB	A	A																c.332T>A	p.Met111Lys	p.M111K	ENST00000463781	2/25	128	120	8	169	168	1	varscan-mutect	MUC4,missense_variant,p.Met111Lys,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Met111Lys,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Met111Lys,ENST00000478156,;MUC4,missense_variant,p.Met111Lys,ENST00000466475,;MUC4,missense_variant,p.Met111Lys,ENST00000477756,;MUC4,missense_variant,p.Met111Lys,ENST00000477086,;MUC4,missense_variant,p.Met111Lys,ENST00000480843,;MUC4,missense_variant,p.Met111Lys,ENST00000462323,;MUC4,missense_variant,p.Met111Lys,ENST00000470451,;MUC4,missense_variant,p.Met111Lys,ENST00000479406,;	T	ENST00000463781	Transcript	missense_variant	792/17110	332/16239	111/5412	M/K	aTg/aAg	rs201789760	1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	tolerated_low_confidence(0.14)		2/25																			MODERATE	1	SNV	5			1										PASS		rs201789760	.												T	3	4	85	195791248	195791248	A	T	1	0	0	0	0	1	0	0	0	9977	217	8	4		4	MUC4	3	195791248	Missense_Mutation	SNP	A	C3N-02000_TP	97526490	195791248	2504311	10	28310											
PRSS12	0	.	GRCh38	chr4	118308451	118308451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacttgtagccaagctgaCgacagatcacagctgcatcc	11	9	8	13	1	1	2	1	1	0	1	2	3	2	2	2	0	5	4	2	0	3	3	rs367921225		C3N-02000_TP	C3N-02000_NB	C	C																c.1616G>A	p.Arg539His	p.R539H	ENST00000296498	8/13	219	188	31	274	274	0	strelka-varscan-mutect	PRSS12,missense_variant,p.Arg539His,ENST00000296498,NM_003619.3;PRSS12,non_coding_transcript_exon_variant,,ENST00000515089,;PRSS12,downstream_gene_variant,,ENST00000503043,;	T	ENST00000296498	Transcript	missense_variant	1899/4809	1616/2628	539/875	R/H	cGt/cAt	rs367921225,COSM1426528	1		-1	PRSS12	HGNC	HGNC:9477	protein_coding	YES	CCDS3709.1	ENSP00000296498	P56730		UPI000013E34B	NM_003619.3	deleterious(0)		8/13		Gene3D:3.10.250.10,Pfam_domain:PF00530,PROSITE_patterns:PS00420,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF315,SMART_domains:SM00202,Superfamily_domains:SSF56487											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs367921225	.												T	3	4	85	118308451	118308451	C	T	1	0	0	0	0	1	0	0	0	12762	536	19	1		1	PRSS12	4	118308451	Missense_Mutation	SNP	C	C3N-02000_TP		118308451	71906104	11	28311											
MIER3	0	.	GRCh38	chr5	56937586	56937586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtttcttacatcgtaaaGgcctagggaagaaatcagaa	14	10	11	6	1	2	2	1	0	1	2	3	3	2	3	1	3	1	2	1	3	7	4	novel		C3N-02000_TP	C3N-02000_NB	G	G																c.443C>A	p.Pro148His	p.P148H	ENST00000381226	5/13	102	71	31	125	125	0	strelka-varscan-mutect	MIER3,missense_variant,p.Pro148His,ENST00000381226,NM_001297598.1;MIER3,missense_variant,p.Pro143His,ENST00000381213,NM_152622.4;MIER3,missense_variant,p.Pro143His,ENST00000381199,NM_001297599.1;MIER3,missense_variant,p.Pro80His,ENST00000409421,;MIER3,missense_variant,p.Pro116His,ENST00000336942,;AC016644.1,upstream_gene_variant,,ENST00000438553,;MIER3,3_prime_UTR_variant,,ENST00000452157,;MIER3,3_prime_UTR_variant,,ENST00000451637,;MIER3,downstream_gene_variant,,ENST00000480115,;	T	ENST00000381226	Transcript	missense_variant	459/5210	443/1668	148/555	P/H	cCt/cAt		1		-1	MIER3	HGNC	HGNC:26678	protein_coding	YES	CCDS78011.1	ENSP00000370624	Q7Z3K6		UPI000022C7A2	NM_001297598.1	tolerated(0.11)		5/13		hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	85	56937586	56937586	G	T	1	0	0	0	0	1	0	0	0	9545	1000	35	2		2	MIER3	5	56937586	Missense_Mutation	SNP	G	C3N-02000_TP		56937586	124600673	12	28312											
PCDHB8	0	.	GRCh38	chr5	141180306	141180306	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtacgaggtgtgcctggcaGgaggctcagggacgaatgag	10	6	18	7	2	1	1	1	1	0	0	1	5	1	3	1	5	2	3	1	5	2	1	novel		C3N-02000_TP	C3N-02000_NB	G	G																c.2272G>T	p.Gly758Ter	p.G758*	ENST00000239444	1/1	287	231	56	208	207	1	strelka-varscan-mutect	PCDHB8,stop_gained,p.Gly758Ter,ENST00000239444,NM_019120.4;PCDHB16,upstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.3;PCDHB16,upstream_gene_variant,,ENST00000625044,;CH17-140K24.5,upstream_gene_variant,,ENST00000623884,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,downstream_gene_variant,,ENST00000624549,;CH17-140K24.7,downstream_gene_variant,,ENST00000624089,;CH17-140K24.4,intron_variant,,ENST00000623995,;CH17-140K24.5,upstream_gene_variant,,ENST00000623407,;	T	ENST00000239444	Transcript	stop_gained	2517/2740	2272/2406	758/801	G/*	Gga/Tga		1		1	PCDHB8	HGNC	HGNC:8693	protein_coding	YES	CCDS4250.1	ENSP00000239444	Q9UN66		UPI000192C41A	NM_019120.4			1/1		hmmpanther:PTHR24028:SF61,hmmpanther:PTHR24028,Pfam_domain:PF16492																	HIGH		SNV				1										PASS		.	.												T	4	4	85	141180306	141180306	G	T	1	0	0	0	0	0	1	0	0	11635	1001	35	2		2	PCDHB8	5	141180306	Nonsense_Mutation	SNP	G	C3N-02000_TP	84242720	141180306	40357953	13	28313											
LCP2	0	.	GRCh38	chr5	170268480	170268480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttttcccagaggggggccGgtctgtggaaacacaaggtt	8	9	16	8	1	1	1	0	0	1	1	2	2	2	2	2	7	1	2	2	7	2	3	novel		C3N-02000_TP	C3N-02000_NB	G	G																c.526C>T	p.Arg176Trp	p.R176W	ENST00000046794	8/21	21	18	3	28	28	0	strelka-mutect	LCP2,missense_variant,p.Arg176Trp,ENST00000046794,NM_005565.3;LCP2,missense_variant,p.Arg176Trp,ENST00000628092,;LCP2,upstream_gene_variant,,ENST00000521416,;LCP2,upstream_gene_variant,,ENST00000520344,;LCP2,downstream_gene_variant,,ENST00000519594,;	A	ENST00000046794	Transcript	missense_variant,splice_region_variant	1142/4678	526/1602	176/533	R/W	Cgg/Tgg		1		-1	LCP2	HGNC	HGNC:6529	protein_coding	YES	CCDS47339.1	ENSP00000046794	Q13094		UPI000012E2AE	NM_005565.3	deleterious(0)		8/21		hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	85	170268480	170268480	G	A	1	0	0	0	0	1	0	0	0	8598	1130	39	1		1	LCP2	5	170268480	Missense_Mutation	SNP	G	C3N-02000_TP	29088174	170268480	11269779	14	28314											
BMP6	0	.	GRCh38	chr6	7727283	7727283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccccggcgctccggcagCaggaggagcagcagcagcag	9	1	16	15	3	0	0	0	0	0	0	1	2	1	2	3	4	6	7	3	4	0	0	novel		C3N-02000_TP	C3N-02000_NB	C	C																c.328C>G	p.Gln110Glu	p.Q110E	ENST00000283147	1/7	195	184	11	234	231	3	varscan-mutect	BMP6,missense_variant,p.Gln110Glu,ENST00000283147,NM_001718.4;	G	ENST00000283147	Transcript	missense_variant	487/2780	328/1542	110/513	Q/E	Cag/Gag		1		1	BMP6	HGNC	HGNC:1073	protein_coding	YES	CCDS4503.1	ENSP00000283147	P22004		UPI0000126A2D	NM_001718.4	tolerated(0.33)		1/7		Low_complexity_(Seg):seg,Pfam_domain:PF00688																	MODERATE	1	SNV	1			1										PASS		rs781449388	.												G	3	3	85	7727283	7727283	C	G	1	0	0	0	0	1	0	0	0	1619	711	25	4		4	BMP6	6	7727283	Missense_Mutation	SNP	C	C3N-02000_TP		7727283	163078696	15	28315											
THBS2	0	.	GRCh38	chr6	169248910	169248910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaactgcttggcgccaatgGtcttgcggttgatgttgctg	5	13	15	8	2	1	1	0	1	1	0	1	2	1	2	1	4	4	4	1	4	2	4	novel		C3N-02000_TP	C3N-02000_NB	G	G																c.116C>T	p.Thr39Ile	p.T39I	ENST00000366787	4/23	70	66	4	83	83	0	strelka-varscan-mutect	THBS2,missense_variant,p.Thr39Ile,ENST00000366787,NM_003247.3;THBS2,missense_variant,p.Thr39Ile,ENST00000617924,;THBS2,missense_variant,p.Thr39Ile,ENST00000435791,;THBS2,upstream_gene_variant,,ENST00000472733,;	A	ENST00000366787	Transcript	missense_variant	366/5811	116/3519	39/1172	T/I	aCc/aTc		1		-1	THBS2	HGNC	HGNC:11786	protein_coding	YES	CCDS34574.1	ENSP00000355751	P35442		UPI0000231C7F	NM_003247.3	deleterious(0.02)		4/23		hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF10,SMART_domains:SM00210,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	85	169248910	169248910	G	A	1	0	0	0	0	1	0	0	0	16287	1261	44	3		3	THBS2	6	169248910	Missense_Mutation	SNP	G	C3N-02000_TP	161521627	169248910	1557069	16	28316											
OR1N2	0	.	GRCh38	chr9	122554083	122554083	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcccacgctaaacccatTcatttatagcttgaggaaca	13	12	5	11	1	1	1	1	1	0	0	2	2	2	2	2	1	3	2	2	1	6	8	novel		C3N-02000_TP	C3N-02000_NB	T	T																c.914T>G	p.Phe305Cys	p.F305C	ENST00000373688	1/1	213	160	53	212	211	1	strelka-varscan-mutect	OR1N2,missense_variant,p.Phe305Cys,ENST00000373688,NM_001004457.1;OR1N2,missense_variant,p.Phe287Cys,ENST00000616791,;	G	ENST00000373688	Transcript	missense_variant	972/1103	914/993	305/330	F/C	tTc/tGc		1		1	OR1N2	HGNC	HGNC:15111	protein_coding	YES	CCDS35123.1	ENSP00000362792	Q8NGR9		UPI000004618C	NM_001004457.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF156,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	85	122554083	122554083	T	G	1	0	0	0	0	1	0	0	0	11048	1783	62	5		5	OR1N2	9	122554083	Missense_Mutation	SNP	T	C3N-02000_TP		122554083	15840634	17	28317											
TAF3	0	.	GRCh38	chr10	7965698	7965698	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagaaagagaagagagagCgagagaagagagaaaaagag	23	0	17	1	1	0	8	0	0	0	8	0	15	0	8	0	0	1	0	0	0	5	0			C3N-02000_TP	C3N-02000_NB	C	C																c.2188C>A	p.=	p.R730R	ENST00000344293	3/7	48	43	5	53	53	0	strelka-mutect	TAF3,synonymous_variant,p.=,ENST00000344293,NM_031923.3;	A	ENST00000344293	Transcript	synonymous_variant	2394/4872	2188/2790	730/929	R	Cga/Aga	COSM5088697	1		1	TAF3	HGNC	HGNC:17303	protein_coding	YES	CCDS41487.1	ENSP00000340271	Q5VWG9		UPI00004588FA	NM_031923.3			3/7		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12321,hmmpanther:PTHR12321:SF34											1						LOW	1	SNV	2		1	1										PASS		rs1038827422	.												A	2	1	85	7965698	7965698	C	A	1	0	0	0	0	0	0	0	1	15921	760	27	1		1	TAF3	10	7965698	Silent	SNP	C	C3N-02000_TP		7965698	125831724	18	28318											
MUC5B	0	.	GRCh38	chr11	1245722	1245722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctggtctgcaggaaccgtGagcaggtggggaagttcaag	9	7	17	8	1	2	1	1	1	1	0	2	3	2	3	2	5	3	3	2	5	3	1	novel		C3N-02000_TP	C3N-02000_NB	G	G																c.8842G>A	p.Glu2948Lys	p.E2948K	ENST00000529681	31/49	166	115	51	161	161	0	strelka-varscan-mutect	MUC5B,missense_variant,p.Glu2948Lys,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;	A	ENST00000529681	Transcript	missense_variant	8900/17911	8842/17289	2948/5762	E/K	Gag/Aag		1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2	deleterious(0.01)		31/49		Pfam_domain:PF13330																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	85	1245722	1245722	G	A	1	0	0	0	0	1	0	0	0	9979	1291	45	3		3	MUC5B	11	1245722	Missense_Mutation	SNP	G	C3N-02000_TP		1245722	133840900	19	28319											
CD4	0	.	GRCh38	chr12	6816237	6816237	+	Frame_Shift_Del	DEL	A	A	-																															aagaacaaggaagtgtctgtAaaacgggttacccaggaccc																								novel		C3N-02000_TP	C3N-02000_NB	A	A																c.792delA	p.Lys264AsnfsTer49	p.K264Nfs*49	ENST00000011653	6/10	194	158	36	227	227	0	sindel-varindel-pindel	CD4,frameshift_variant,p.Lys264AsnfsTer49,ENST00000011653,NM_000616.4;CD4,3_prime_UTR_variant,,ENST00000541982,;CD4,non_coding_transcript_exon_variant,,ENST00000538827,;CD4,downstream_gene_variant,,ENST00000536610,;CD4,downstream_gene_variant,,ENST00000536563,;CD4,downstream_gene_variant,,ENST00000536590,;CD4,non_coding_transcript_exon_variant,,ENST00000437800,;CD4,downstream_gene_variant,,ENST00000544344,;CD4,downstream_gene_variant,,ENST00000543755,;	-	ENST00000011653	Transcript	frameshift_variant	1047/3114	789/1377	263/458	V/X	gtA/gt		1		1	CD4	HGNC	HGNC:1678	protein_coding	YES	CCDS8562.1	ENSP00000011653	P01730		UPI0000001294	NM_000616.4			6/10		hmmpanther:PTHR11422:SF0,hmmpanther:PTHR11422,Gene3D:2.60.40.10,Pfam_domain:PF09191,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	85	6816237	6816237	A	-	1	0	1	0	1	0	0	0	0	2718	349	13	0		0	CD4	12	6816237	Frame_Shift_Del	DEL	A	C3N-02000_TP		6816237	126459072	20	28320											
FAM90A1	0	.	GRCh38	chr12	8222119	8222119	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtaggcaggcaaggtctGctgtgcggaggctgccggtc	6	7	18	10	2	1	0	0	0	1	0	2	1	1	1	1	6	3	6	1	6	2	1	novel		C3N-02000_TP	C3N-02000_NB	G	G																c.1098C>T	p.=	p.S366S	ENST00000538603	7/7	645	606	39	638	638	0	varscan-mutect	FAM90A1,synonymous_variant,p.=,ENST00000538603,NM_018088.3;FAM90A1,synonymous_variant,p.=,ENST00000307435,NM_001319982.1;FAM90A1,downstream_gene_variant,,ENST00000442295,;RP11-266K4.14,downstream_gene_variant,,ENST00000618256,;RP11-266K4.1,upstream_gene_variant,,ENST00000542600,;	A	ENST00000538603	Transcript	synonymous_variant	1657/2513	1098/1395	366/464	S	agC/agT		1		-1	FAM90A1	HGNC	HGNC:25526	protein_coding	YES	CCDS31738.1	ENSP00000445418	Q86YD7		UPI000013EC10	NM_018088.3			7/7		hmmpanther:PTHR16035,hmmpanther:PTHR16035:SF9																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	85	8222119	8222119	G	A	1	0	0	0	0	0	0	0	1	5507	1310	46	3		3	FAM90A1	12	8222119	Silent	SNP	G	C3N-02000_TP	1405882	8222119	125053190	21	28321											
FAM90A1	0	.	GRCh38	chr12	8222235	8222235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggaggttggagattctccgGggcccccagctcacctccct	5	8	12	16	2	2	1	1	0	1	1	4	3	3	2	5	5	1	2	5	5	0	2	novel		C3N-02000_TP	C3N-02000_NB	G	G																c.982C>T	p.Pro328Ser	p.P328S	ENST00000538603	7/7	605	572	33	594	594	0	varscan-mutect	FAM90A1,missense_variant,p.Pro328Ser,ENST00000538603,NM_018088.3;FAM90A1,missense_variant,p.Pro328Ser,ENST00000307435,NM_001319982.1;FAM90A1,downstream_gene_variant,,ENST00000442295,;RP11-266K4.14,downstream_gene_variant,,ENST00000618256,;RP11-266K4.1,upstream_gene_variant,,ENST00000542600,;	A	ENST00000538603	Transcript	missense_variant	1541/2513	982/1395	328/464	P/S	Ccg/Tcg		1		-1	FAM90A1	HGNC	HGNC:25526	protein_coding	YES	CCDS31738.1	ENSP00000445418	Q86YD7		UPI000013EC10	NM_018088.3	tolerated(0.66)		7/7		hmmpanther:PTHR16035,hmmpanther:PTHR16035:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	85	8222235	8222235	G	A	1	0	0	0	0	1	0	0	0	5507	1232	43	3		3	FAM90A1	12	8222235	Missense_Mutation	SNP	G	C3N-02000_TP	116	8222235	125053074	22	28322											
CDC16	0	.	GRCh38	chr13	114259398	114259398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaaagcaattgggaacgaGgtattctttgtagtacctgt	12	14	10	5	1	1	0	0	0	1	0	1	2	1	1	1	2	3	4	1	2	7	7	novel		C3N-02000_TP	C3N-02000_NB	G	G																c.1314G>T	p.Glu438Asp	p.E438D	ENST00000360383	14/19	68	63	5	27	27	0	strelka-mutect	CDC16,missense_variant,p.Glu438Asp,ENST00000360383,NM_001318517.1,NM_003903.3,NM_001078645.1;CDC16,missense_variant,p.Glu438Asp,ENST00000356221,;CDC16,missense_variant,p.Glu344Asp,ENST00000375310,;CDC16,missense_variant,p.Glu293Asp,ENST00000628084,;CDC16,missense_variant,p.Glu437Asp,ENST00000252457,;CDC16,missense_variant,p.Glu344Asp,ENST00000375308,;CDC16,missense_variant,p.Glu293Asp,ENST00000252458,;CDC16,upstream_gene_variant,,ENST00000461716,;CDC16,splice_region_variant,,ENST00000484907,;	T	ENST00000360383	Transcript	missense_variant,splice_region_variant	1512/2211	1314/1863	438/620	E/D	gaG/gaT		1		1	CDC16	HGNC	HGNC:1720	protein_coding	YES	CCDS9542.2	ENSP00000353549	Q13042	A0A024RDZ2	UPI000006F728	NM_001318517.1,NM_003903.3,NM_001078645.1	tolerated(0.17)		14/19		PROSITE_profiles:PS50293,hmmpanther:PTHR12558:SF9,hmmpanther:PTHR12558,Gene3D:1.25.40.10,Superfamily_domains:SSF48452																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	85	114259398	114259398	G	T	1	0	0	0	0	1	0	0	0	2761	1014	35	2		2	CDC16	13	114259398	Missense_Mutation	SNP	G	C3N-02000_TP		114259398	104930	23	28323											
SLC12A4	0	.	GRCh38	chr16	67954760	67954760	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgaacgagagatcatgaaAtaggagcccccagctacagc	15	5	11	10	1	1	3	1	2	0	1	1	6	1	4	2	1	5	1	2	1	4	2	novel		C3N-02000_TP	C3N-02000_NB	A	A																c.564T>C	p.=	p.Y188Y	ENST00000422611	5/23	124	113	11	161	161	0	strelka-varscan-mutect	SLC12A4,synonymous_variant,p.=,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,synonymous_variant,p.=,ENST00000422611,NM_001145962.1;SLC12A4,synonymous_variant,p.=,ENST00000576616,;SLC12A4,synonymous_variant,p.=,ENST00000541864,NM_001145964.1;SLC12A4,synonymous_variant,p.=,ENST00000572037,;SLC12A4,synonymous_variant,p.=,ENST00000537830,NM_001145963.1;SLC12A4,synonymous_variant,p.=,ENST00000571299,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000570802,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,intron_variant,,ENST00000576377,;SLC12A4,upstream_gene_variant,,ENST00000574665,;SLC12A4,downstream_gene_variant,,ENST00000576462,;SLC12A4,upstream_gene_variant,,ENST00000573702,;SLC12A4,upstream_gene_variant,,ENST00000572476,;SLC12A4,upstream_gene_variant,,ENST00000572766,;SLC12A4,upstream_gene_variant,,ENST00000576513,;	G	ENST00000422611	Transcript	synonymous_variant	604/4670	564/3264	188/1087	Y	taT/taC		1		-1	SLC12A4	HGNC	HGNC:10913	protein_coding	YES	CCDS54032.1	ENSP00000395983	Q9UP95		UPI00019863A8	NM_001145962.1			5/23		Transmembrane_helices:TMhelix,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF46,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930																	LOW	1	SNV	2			1										PASS		.	.												G	2	3	85	67954760	67954760	A	G	1	0	0	0	0	0	0	0	1	14650	108	4	5		5	SLC12A4	16	67954760	Silent	SNP	A	C3N-02000_TP		67954760	22383585	24	28324											
PIEZO1	0	.	GRCh38	chr16	88733987	88733987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcctcctcctcctcctcctCctgctgctgctgctgatgct	1	14	6	20	0	0	1	0	1	0	0	7	1	7	1	7	0	5	5	7	0	0	0	rs202139830		C3N-02000_TP	C3N-02000_NB	C	C																c.2248G>C	p.Glu750Gln	p.E750Q	ENST00000301015	17/51	54	50	4	53	53	0	strelka-mutect	PIEZO1,missense_variant,p.Glu750Gln,ENST00000301015,NM_001142864.2;RP5-1142A6.2,intron_variant,,ENST00000440406,;RP5-1142A6.2,upstream_gene_variant,,ENST00000567968,;PIEZO1,upstream_gene_variant,,ENST00000490756,;	G	ENST00000301015	Transcript	missense_variant	2495/8072	2248/7566	750/2521	E/Q	Gag/Cag	rs202139830,COSM4908184	1		-1	PIEZO1	HGNC	HGNC:28993	protein_coding	YES	CCDS54058.1	ENSP00000301015	Q92508		UPI0001B300F3	NM_001142864.2	tolerated(0.45)		17/51		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs202139830	.												G	3	3	85	88733987	88733987	C	G	1	0	0	0	0	1	0	0	0	11974	864	30	4		4	PIEZO1	16	88733987	Missense_Mutation	SNP	C	C3N-02000_TP	20779227	88733987	1604358	25	28325											
TP53	0	.	GRCh38	chr17	7675075	7675075	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctatctgagcagcgctcAtggtgggggcagcgcctcac	6	8	14	13	3	3	1	2	1	1	0	4	1	3	1	1	3	3	4	1	3	1	1			C3N-02000_TP	C3N-02000_NB	A	A																c.537T>G	p.His179Gln	p.H179Q	ENST00000269305	5/11	189	123	66	392	392	0	strelka-varscan-mutect	TP53,missense_variant,p.His179Gln,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.His179Gln,ENST00000420246,;TP53,missense_variant,p.His140Gln,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.His140Gln,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.His179Gln,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.His140Gln,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.His179Gln,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.His140Gln,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.His179Gln,ENST00000445888,;TP53,missense_variant,p.His140Gln,ENST00000619485,;TP53,missense_variant,p.His47Gln,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.His20Gln,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.His47Gln,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.His20Gln,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.His47Gln,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.His20Gln,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.His179Gln,ENST00000359597,;TP53,missense_variant,p.His168Gln,ENST00000615910,;TP53,missense_variant,p.His179Gln,ENST00000413465,;TP53,missense_variant,p.His47Gln,ENST00000509690,;TP53,missense_variant,p.His86Gln,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,missense_variant,p.His140Gln,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	C	ENST00000269305	Transcript	missense_variant	727/2579	537/1182	179/393	H/Q	caT/caG	CM0910925,TP53_g.12525T>G,TP53_g.12525T>C,TP53_g.12525T>A,COSM11249,COSM1158094,COSM1158095,COSM1158096,COSM1158097,COSM1649385,COSM2744837,COSM307263,COSM307264,COSM307265,COSM307266,COSM3388355,COSM3820720,COSM44214,COSM44793	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		5/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386											0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs876660821	.												C	3	2	85	7675075	7675075	A	C	1	0	0	0	0	1	0	0	0	16859	214	8	5		5	TP53	17	7675075	Missense_Mutation	SNP	A	C3N-02000_TP		7675075	75582366	26	28326											
PCSK4	0	.	GRCh38	chr19	1487264	1487264	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcggctgcaggctcagCgactgggcctcgatgacatc	6	8	14	13	3	1	1	1	1	0	0	3	3	1	1	1	3	4	4	1	3	0	0	rs536873237		C3N-02000_TP	C3N-02000_NB	C	C																c.732G>A	p.=	p.S244S	ENST00000300954	7/15	111	105	6	132	132	0	strelka-varscan-mutect	PCSK4,missense_variant,p.Ala215Thr,ENST00000588671,;PCSK4,synonymous_variant,p.=,ENST00000300954,NM_017573.4;REEP6,upstream_gene_variant,,ENST00000233596,NM_138393.1;PCSK4,non_coding_transcript_exon_variant,,ENST00000587784,;PCSK4,downstream_gene_variant,,ENST00000590057,;PCSK4,downstream_gene_variant,,ENST00000591687,;PCSK4,missense_variant,p.Ala212Thr,ENST00000591201,;PCSK4,non_coding_transcript_exon_variant,,ENST00000586616,;PCSK4,non_coding_transcript_exon_variant,,ENST00000441747,;PCSK4,non_coding_transcript_exon_variant,,ENST00000588195,;REEP6,upstream_gene_variant,,ENST00000591735,;PCSK4,downstream_gene_variant,,ENST00000614078,;PCSK4,upstream_gene_variant,,ENST00000586002,;PCSK4,upstream_gene_variant,,ENST00000586074,;PCSK4,upstream_gene_variant,,ENST00000591303,;	T	ENST00000300954	Transcript	synonymous_variant	794/2661	732/2268	244/755	S	tcG/tcA	rs536873237,COSM4074873	1		-1	PCSK4	HGNC	HGNC:8746	protein_coding	YES	CCDS12069.2	ENSP00000300954	Q6UW60	A0A140VJQ9	UPI000014E136	NM_017573.4			7/15		hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF386,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743											0,1						LOW	1	SNV	1		0,1	1										PASS		rs536873237	.												T	2	4	85	1487264	1487264	C	T	1	0	0	0	0	0	0	0	1	11690	755	27	1		1	PCSK4	19	1487264	Silent	SNP	C	C3N-02000_TP		1487264	57130352	27	28327											
WFDC10A	0	.	GRCh38	chr20	45629893	45629893	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaggataccgtgacaagaAgaggatgcagagtaggtgat	14	6	17	4	1	0	5	0	2	0	3	0	8	0	8	1	4	2	2	1	4	4	2			C3N-02000_TP	C3N-02000_NB	A	A																c.80A>T	p.Lys27Met	p.K27M	ENST00000372643	1/2	88	83	5	136	136	0	varscan-mutect	WFDC10A,missense_variant,p.Lys27Met,ENST00000372643,NM_080753.2;WFDC9,intron_variant,,ENST00000326000,NM_147198.3;	T	ENST00000372643	Transcript	missense_variant	368/706	80/240	27/79	K/M	aAg/aTg	COSM3673121	1		1	WFDC10A	HGNC	HGNC:16139	protein_coding	YES	CCDS13363.1	ENSP00000361726	Q9H1F0		UPI0000043C51	NM_080753.2	deleterious(0.04)		1/2		hmmpanther:PTHR19441,hmmpanther:PTHR19441:SF17,PD701336											1						MODERATE	1	SNV	1		1	1										PASS		rs1248889419	.												T	3	4	85	45629893	45629893	A	T	1	0	0	0	0	1	0	0	0	17904	72	3	4		4	WFDC10A	20	45629893	Missense_Mutation	SNP	A	C3N-02000_TP		45629893	18814274	28	28328											
MYT1	0	.	GRCh38	chr20	64213581	64213581	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaaattagccaaatcccAtgagaagcagcagccgcaga	17	4	9	11	2	0	2	0	1	0	2	1	4	1	2	3	0	4	3	3	0	5	1	novel		C3N-02000_TP	C3N-02000_NB	A	A																c.1565A>T	p.His522Leu	p.H522L	ENST00000328439	10/23	237	214	23	253	253	0	strelka-varscan-mutect	MYT1,missense_variant,p.His522Leu,ENST00000536311,;MYT1,missense_variant,p.His522Leu,ENST00000328439,NM_004535.2;MYT1,missense_variant,p.His224Leu,ENST00000622439,;MYT1,missense_variant,p.His224Leu,ENST00000360149,;	T	ENST00000328439	Transcript	missense_variant	1929/5535	1565/3366	522/1121	H/L	cAt/cTt		1		1	MYT1	HGNC	HGNC:7622	protein_coding	YES	CCDS13558.1	ENSP00000327465	Q01538		UPI000012FBFA	NM_004535.2	deleterious(0.01)		10/23		hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	85	64213581	64213581	A	T	1	0	0	0	0	1	0	0	0	10105	217	8	4		4	MYT1	20	64213581	Missense_Mutation	SNP	A	C3N-02000_TP	18583688	64213581	230586	29	28329											
MAGEB6	0	.	GRCh38	chrX	26195025	26195025	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccacatctgtatgaagaCgctttgatagatgaggtaga	13	11	10	7	1	1	6	0	3	1	3	1	6	1	6	1	1	1	3	1	1	5	5	rs759811799		C3N-02000_TP	C3N-02000_NB	C	C																c.1179C>T	p.=	p.D393D	ENST00000379034	2/2	110	95	15	147	147	0	strelka-varscan-mutect	MAGEB6,synonymous_variant,p.=,ENST00000379034,NM_173523.2;	T	ENST00000379034	Transcript	synonymous_variant	1328/1949	1179/1224	393/407	D	gaC/gaT	rs759811799	1		1	MAGEB6	HGNC	HGNC:23796	protein_coding	YES	CCDS14217.1	ENSP00000368320	Q8N7X4		UPI00001413F4	NM_173523.2			2/2		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF80,hmmpanther:PTHR11736																	LOW	1	SNV	1			1										PASS		rs759811799	.												T	2	4	85	26195025	26195025	C	T	1	0	0	0	0	0	0	0	1	9096	535	19	1		1	MAGEB6	23	26195025	Silent	SNP	C	C3N-02000_TP		26195025	129845870	30	28330											
SHROOM4	0	.	GRCh38	chrX	50607778	50607778	+	Missense_Mutation	SNP	T	T	G																															ctgctgctgctgttgctgctTctgctgctgggctgcacgaa																								rs112781654		C3N-02000_TP	C3N-02000_NB	T	T																c.3364A>C	p.Lys1122Gln	p.K1122Q	ENST00000376020	6/9	71	65	6	98	97	1	varscan-mutect	SHROOM4,missense_variant,p.Lys1122Gln,ENST00000376020,NM_020717.3;SHROOM4,missense_variant,p.Lys1006Gln,ENST00000460112,;SHROOM4,missense_variant,p.Lys1122Gln,ENST00000289292,;	G	ENST00000376020	Transcript	missense_variant	3390/9556	3364/4482	1122/1493	K/Q	Aag/Cag	rs112781654	1		-1	SHROOM4	HGNC	HGNC:29215	protein_coding	YES	CCDS35277.1	ENSP00000365188	Q9ULL8		UPI00001C2068	NM_020717.3	tolerated(0.83)		6/9		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15012:SF35,hmmpanther:PTHR15012																	MODERATE	1	SNV	2			1										PASS		rs112781654	.												G	3	3	85	50607778	50607778	T	G	1	0	0	0	0	1	0	0	0	14559	1792	62	5		5	SHROOM4	23	50607778	Missense_Mutation	SNP	T	C3N-02000_TP	24412753	50607778	105433117	31	28331	597	2									
SHROOM4	0	.	GRCh38	chrX	50607782	50607782	+	Silent	SNP	C	C	T																															tgctgctgttgctgcttctgCtgctgggctgcacgaaagag																								rs113799046		C3N-02000_TP	C3N-02000_NB	C	C																c.3360G>A	p.=	p.Q1120Q	ENST00000376020	6/9	69	65	4	105	105	0	varscan-mutect	SHROOM4,synonymous_variant,p.=,ENST00000376020,NM_020717.3;SHROOM4,synonymous_variant,p.=,ENST00000460112,;SHROOM4,synonymous_variant,p.=,ENST00000289292,;	T	ENST00000376020	Transcript	synonymous_variant	3386/9556	3360/4482	1120/1493	Q	caG/caA	rs113799046	1		-1	SHROOM4	HGNC	HGNC:29215	protein_coding	YES	CCDS35277.1	ENSP00000365188	Q9ULL8		UPI00001C2068	NM_020717.3			6/9		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15012:SF35,hmmpanther:PTHR15012																	LOW	1	SNV	2			1										PASS		rs113799046	.												T	2	4	85	50607782	50607782	C	T	1	0	0	0	0	0	0	0	1	14559	796	28	3		3	SHROOM4	23	50607782	Silent	SNP	C	C3N-02000_TP	4	50607782	105433113	32	28332	597	2									
CSMD2	0	.	GRCh38	chr1	33580818	33580818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaccaacgcaggtacacaGagttgcttgagctggtgaca	12	8	12	9	1	0	4	0	3	0	1	0	4	0	4	1	2	4	5	1	2	2	3	novel		C3N-02002_TP	C3N-02002_NB	G	G																c.7322C>T	p.Ser2441Phe	p.S2441F	ENST00000373381	48/71	285	267	18	330	330	0	strelka-varscan-mutect	CSMD2,missense_variant,p.Ser2441Phe,ENST00000373381,NM_001281956.1;CSMD2,missense_variant,p.Ser2401Phe,ENST00000619121,;CSMD2,missense_variant,p.Ser2443Phe,ENST00000373388,NM_052896.4;CSMD2,missense_variant,p.Ser2443Phe,ENST00000241312,;	A	ENST00000373381	Transcript	missense_variant	7499/13698	7322/10896	2441/3631	S/F	tCt/tTt		1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1	tolerated(0.1)		48/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		rs1464400124	.												A	3	1	86	33580818	33580818	G	A	1	0	0	0	0	1	0	0	0	3746	942	33	3		3	CSMD2	1	33580818	Missense_Mutation	SNP	G	C3N-02002_TP		33580818	215375604	1	28333											
RGS4	0	.	GRCh38	chr1	163073466	163073466	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatcataggtgggctggcAgctttcaaagctttcttgaa	9	14	11	7	0	3	1	2	1	1	0	3	1	3	1	0	3	2	5	0	3	4	5	novel		C3N-02002_TP	C3N-02002_NB	A	A																c.513A>G	p.=	p.A171A	ENST00000421743	5/6	68	48	20	79	79	0	strelka-varscan-mutect	RGS4,synonymous_variant,p.=,ENST00000421743,NM_001102445.2;RGS4,synonymous_variant,p.=,ENST00000367909,NM_005613.5;RGS4,synonymous_variant,p.=,ENST00000367906,NM_001113380.1;RGS4,synonymous_variant,p.=,ENST00000527809,;RGS4,synonymous_variant,p.=,ENST00000528938,;RGS4,synonymous_variant,p.=,ENST00000531057,;RGS4,intron_variant,,ENST00000367908,NM_001113381.1;RGS4,non_coding_transcript_exon_variant,,ENST00000491263,;RGS4,non_coding_transcript_exon_variant,,ENST00000527393,;RGS4,non_coding_transcript_exon_variant,,ENST00000533019,;	G	ENST00000421743	Transcript	synonymous_variant	673/3311	513/909	171/302	A	gcA/gcG		1		1	RGS4	HGNC	HGNC:10000	protein_coding	YES	CCDS44270.1	ENSP00000397181	P49798		UPI0000E1EDBA	NM_001102445.2			5/6		PROSITE_profiles:PS50132,hmmpanther:PTHR10845:SF184,hmmpanther:PTHR10845,Gene3D:1.10.196.10,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097,Prints_domain:PR01301																	LOW	1	SNV	1			1										PASS		rs1440969332	.												G	2	3	86	163073466	163073466	A	G	1	0	0	0	0	0	0	0	1	13478	175	7	5		5	RGS4	1	163073466	Silent	SNP	A	C3N-02002_TP	129492648	163073466	85882956	2	28334											
RNPEP	0	.	GRCh38	chr1	201983038	201983038	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggccaggccctgtgcgtGtccttcccgcagccctgccg	3	9	12	17	3	0	0	0	0	0	0	2	0	2	0	6	2	3	1	6	2	1	2	novel		C3N-02002_TP	C3N-02002_NB	G	G																c.372G>A	p.=	p.V124V	ENST00000295640	1/11	162	152	10	171	171	0	strelka-varscan	RNPEP,synonymous_variant,p.=,ENST00000295640,NM_020216.3;RNPEP,synonymous_variant,p.=,ENST00000367286,;RNPEP,upstream_gene_variant,,ENST00000447312,;SNORA70,downstream_gene_variant,,ENST00000383910,;RNPEP,non_coding_transcript_exon_variant,,ENST00000471105,;RNPEP,intron_variant,,ENST00000481780,;RNPEP,upstream_gene_variant,,ENST00000478617,;RNPEP,upstream_gene_variant,,ENST00000492849,;RNPEP,upstream_gene_variant,,ENST00000479726,;RNPEP,upstream_gene_variant,,ENST00000620670,;RNPEP,synonymous_variant,p.=,ENST00000487116,;RNPEP,synonymous_variant,p.=,ENST00000492587,;RP11-465N4.2,downstream_gene_variant,,ENST00000412093,;	A	ENST00000295640	Transcript	synonymous_variant	415/2427	372/1953	124/650	V	gtG/gtA		1		1	RNPEP	HGNC	HGNC:10078	protein_coding	YES	CCDS1418.1	ENSP00000295640	Q9H4A4		UPI00000463FA	NM_020216.3			1/11		hmmpanther:PTHR11533:SF153,hmmpanther:PTHR11533,Pfam_domain:PF01433,Superfamily_domains:0038696																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	86	201983038	201983038	G	A	1	0	0	0	0	0	0	0	1	13688	1364	48	3		3	RNPEP	1	201983038	Silent	SNP	G	C3N-02002_TP	38909572	201983038	46973384	3	28335											
GALNT5	0	.	GRCh38	chr2	157258143	157258143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttggcatttatctttgtaGcttctgtcatctggctcctc	4	19	7	11	0	5	0	1	0	4	0	7	0	6	0	1	2	1	4	1	2	2	6	novel		C3N-02002_TP	C3N-02002_NB	G	G																c.61G>A	p.Ala21Thr	p.A21T	ENST00000259056	1/10	323	263	60	464	464	0	strelka-varscan	GALNT5,missense_variant,p.Ala21Thr,ENST00000259056,NM_014568.1;	A	ENST00000259056	Transcript	missense_variant	546/6171	61/2823	21/940	A/T	Gct/Act		1		1	GALNT5	HGNC	HGNC:4127	protein_coding	YES	CCDS2203.1	ENSP00000259056	Q7Z7M9		UPI000019AD19	NM_014568.1	deleterious(0.02)		1/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR11675:SF16,hmmpanther:PTHR11675																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	86	157258143	157258143	G	A	1	0	0	0	0	1	0	0	0	6087	971	34	3		3	GALNT5	2	157258143	Missense_Mutation	SNP	G	C3N-02002_TP		157258143	84935386	4	28336			1	23		2	2	31	G		4.565562e-05
GALNT5	0	.	GRCh38	chr2	157258173	157258173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctggctcctctttgacatgGcagctctccgcctctcattc	4	14	7	16	1	4	1	1	1	4	0	8	1	5	1	3	2	1	3	3	2	0	2	rs761997163		C3N-02002_TP	C3N-02002_NB	G	G																c.91G>A	p.Ala31Thr	p.A31T	ENST00000259056	1/10	234	188	46	344	344	0	strelka-varscan	GALNT5,missense_variant,p.Ala31Thr,ENST00000259056,NM_014568.1;	A	ENST00000259056	Transcript	missense_variant	576/6171	91/2823	31/940	A/T	Gca/Aca	rs761997163	1		1	GALNT5	HGNC	HGNC:4127	protein_coding	YES	CCDS2203.1	ENSP00000259056	Q7Z7M9		UPI000019AD19	NM_014568.1	deleterious(0)		1/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR11675:SF16,hmmpanther:PTHR11675																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	86	157258173	157258173	G	A	1	0	0	0	0	1	0	0	0	6087	1203	42	3		3	GALNT5	2	157258173	Missense_Mutation	SNP	G	C3N-02002_TP	30	157258173	84935356	5	28337			1	23		2	2	31	G		4.565562e-05
COPS8	0	.	GRCh38	chr2	237089993	237089993	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattatggaagcacttagAggtagtgtttctttgtggtt	9	16	11	5	0	1	1	0	0	1	1	1	2	1	2	1	3	1	4	1	3	5	6	novel		C3N-02002_TP	C3N-02002_NB	A	A																c.330A>C	p.Arg110Ser	p.R110S	ENST00000354371	4/8	101	89	12	176	176	0	strelka-varscan-mutect	COPS8,missense_variant,p.Arg110Ser,ENST00000354371,NM_006710.4;COPS8,missense_variant,p.Arg61Ser,ENST00000392008,NM_198189.2;COPS8,missense_variant,p.Arg110Ser,ENST00000409334,;AC105760.2,upstream_gene_variant,,ENST00000418430,;COPS8,splice_region_variant,,ENST00000470452,;COPS8,splice_region_variant,,ENST00000419015,;COPS8,upstream_gene_variant,,ENST00000447464,;	C	ENST00000354371	Transcript	missense_variant,splice_region_variant	983/4007	330/630	110/209	R/S	agA/agC		1		1	COPS8	HGNC	HGNC:24335	protein_coding	YES	CCDS2517.1	ENSP00000346340	Q99627	A0A024R4D1	UPI000006CD9B	NM_006710.4	tolerated(0.19)		4/8		hmmpanther:PTHR13339,hmmpanther:PTHR13339:SF0,Pfam_domain:PF10075																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	86	237089993	237089993	A	C	1	0	0	0	0	1	0	0	0	3533	318	11	5		5	COPS8	2	237089993	Missense_Mutation	SNP	A	C3N-02002_TP	79831820	237089993	5103536	6	28338											
ALDH1L1	0	.	GRCh38	chr3	126146833	126146833	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccctccactcctggccttAcctcacaacgtccacagacg	9	7	5	20	2	1	1	1	0	0	1	4	1	4	1	7	1	2	0	7	1	2	1	novel		C3N-02002_TP	C3N-02002_NB	A	A																c.1106+2T>G		p.X369_splice	ENST00000273450		126	102	24	171	170	1	strelka-varscan-mutect	ALDH1L1,splice_donor_variant,,ENST00000393434,NM_012190.3;ALDH1L1,splice_donor_variant,,ENST00000273450,NM_001270364.1;ALDH1L1,splice_donor_variant,,ENST00000472186,;ALDH1L1,splice_donor_variant,,ENST00000455064,;ALDH1L1,splice_donor_variant,,ENST00000393431,;ALDH1L1,splice_donor_variant,,ENST00000452905,NM_001270365.1;ALDH1L1,downstream_gene_variant,,ENST00000413612,;ALDH1L1,splice_donor_variant,,ENST00000476245,;ALDH1L1,splice_donor_variant,,ENST00000473607,;ALDH1L1,downstream_gene_variant,,ENST00000484724,;	C	ENST00000273450	Transcript	splice_donor_variant	-/3179	1106/2739	369/912				1		-1	ALDH1L1	HGNC	HGNC:3978	protein_coding	YES	CCDS58851.1	ENSP00000273450	O75891		UPI0000425C57	NM_001270364.1				9/22																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	86	126146833	126146833	A	C	1	0	0	0	0	0	0	1	0	594	405	14	5		5	ALDH1L1	3	126146833	Splice_Site	SNP	A	C3N-02002_TP		126146833	72148726	7	28339											
SAMD7	0	.	GRCh38	chr3	169938493	169938493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaggaattgagcgaggtaGtatgagaaactaaaagccct	17	8	11	5	1	0	2	0	2	0	1	0	5	0	3	1	2	3	2	1	2	8	5	novel		C3N-02002_TP	C3N-02002_NB	G	G																c.1328G>A	p.Ser443Asn	p.S443N	ENST00000428432	9/9	72	68	4	115	114	1	strelka-mutect	SAMD7,missense_variant,p.Ser443Asn,ENST00000428432,NM_182610.3;SAMD7,missense_variant,p.Ser443Asn,ENST00000335556,NM_001304366.1;RP11-379K17.4,downstream_gene_variant,,ENST00000483289,;RP11-379K17.4,downstream_gene_variant,,ENST00000487580,;SAMD7,3_prime_UTR_variant,,ENST00000487910,;	A	ENST00000428432	Transcript	missense_variant	1717/2399	1328/1341	443/446	S/N	aGt/aAt		1		1	SAMD7	HGNC	HGNC:25394	protein_coding	YES	CCDS3209.1	ENSP00000391299	Q7Z3H4		UPI00001A9D13	NM_182610.3	tolerated(0.39)		9/9																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	86	169938493	169938493	G	A	1	0	0	0	0	1	0	0	0	14084	1029	36	3		3	SAMD7	3	169938493	Missense_Mutation	SNP	G	C3N-02002_TP	43791660	169938493	28357066	8	28340											
SCD5	0	.	GRCh38	chr4	82636669	82636669	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtttccatacatgtgggCggcgctgttgaccagccagc	6	9	13	13	3	0	1	0	1	0	0	1	1	1	1	4	3	3	3	4	3	1	3	rs762692893		C3N-02002_TP	C3N-02002_NB	C	C																c.724G>C	p.Ala242Pro	p.A242P	ENST00000319540	4/5	271	224	47	338	338	0	strelka-varscan-mutect	SCD5,missense_variant,p.Ala242Pro,ENST00000319540,NM_001037582.2;	G	ENST00000319540	Transcript	missense_variant	1044/3101	724/993	242/330	A/P	Gcc/Ccc	rs762692893,COSM4644622	1		-1	SCD5	HGNC	HGNC:21088	protein_coding	YES	CCDS34024.1	ENSP00000316329	Q86SK9		UPI000003F556	NM_001037582.2	deleterious(0)		4/5		Pfam_domain:PF00487,Prints_domain:PR00075,hmmpanther:PTHR11351,hmmpanther:PTHR11351:SF32											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs762692893	.												G	3	3	86	82636669	82636669	C	G	1	0	0	0	0	1	0	0	0	14153	768	27	4		4	SCD5	4	82636669	Missense_Mutation	SNP	C	C3N-02002_TP		82636669	107577886	9	28341											
PTPN13	0	.	GRCh38	chr4	86750850	86750850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaccagatgtcaagatctGatgcagaatctttggcagga	12	10	10	9	0	4	4	2	1	2	3	4	5	4	5	1	2	1	2	1	2	2	1	novel		C3N-02002_TP	C3N-02002_NB	G	G																c.3031G>A	p.Asp1011Asn	p.D1011N	ENST00000436978	18/48	127	84	43	130	130	0	strelka-varscan-mutect	PTPN13,missense_variant,p.Asp1011Asn,ENST00000436978,NM_080685.2;PTPN13,missense_variant,p.Asp1011Asn,ENST00000427191,NM_006264.2;PTPN13,missense_variant,p.Asp1011Asn,ENST00000411767,NM_080683.2;PTPN13,missense_variant,p.Asp1011Asn,ENST00000511467,;PTPN13,intron_variant,,ENST00000316707,NM_080684.2;	A	ENST00000436978	Transcript	missense_variant	3511/8573	3031/7473	1011/2490	D/N	Gat/Aat		1		1	PTPN13	HGNC	HGNC:9646	protein_coding	YES	CCDS47093.1	ENSP00000394794	Q12923		UPI000016075D	NM_080685.2	deleterious(0.02)		18/48		PIRSF_domain:PIRSF000933																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	86	86750850	86750850	G	A	1	0	0	0	0	1	0	0	0	12935	1290	45	3		3	PTPN13	4	86750850	Missense_Mutation	SNP	G	C3N-02002_TP	4114181	86750850	103463705	10	28342											
CDH6	0	.	GRCh38	chr5	31299568	31299568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagatgggaggattatctGggaccaccaccgtgaacatc	11	7	12	11	1	1	2	0	1	1	1	2	5	1	5	4	3	1	0	4	3	2	1	novel		C3N-02002_TP	C3N-02002_NB	G	G																c.748G>A	p.Gly250Arg	p.G250R	ENST00000265071	5/12	228	191	37	240	239	1	strelka-varscan-mutect	CDH6,missense_variant,p.Gly250Arg,ENST00000265071,NM_004932.3;CDH6,missense_variant,p.Gly195Arg,ENST00000514738,;CDH6,non_coding_transcript_exon_variant,,ENST00000508132,;	A	ENST00000265071	Transcript	missense_variant	1013/8476	748/2373	250/790	G/R	Ggg/Agg		1		1	CDH6	HGNC	HGNC:1765	protein_coding	YES	CCDS3894.1	ENSP00000265071	P55285		UPI0000126D9B	NM_004932.3	deleterious(0)		5/12		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF322,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	86	31299568	31299568	G	A	1	0	0	0	0	1	0	0	0	2817	1348	47	3		3	CDH6	5	31299568	Missense_Mutation	SNP	G	C3N-02002_TP		31299568	150238691	11	28343											
PAPD4	0	.	GRCh38	chr5	79619704	79619704	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactccaaatcatcaacaacAtaataacttctttaccctgt	15	12	1	13	0	3	0	2	0	1	0	4	0	4	0	2	0	4	0	2	0	6	5	rs754089479		C3N-02002_TP	C3N-02002_NB	A	A																c.56A>C	p.His19Pro	p.H19P	ENST00000453514	2/15	149	92	57	216	216	0	strelka-varscan-mutect	PAPD4,missense_variant,p.His19Pro,ENST00000453514,NM_001114394.1,NM_001114393.1,NM_173797.3;PAPD4,missense_variant,p.His19Pro,ENST00000423041,NM_001297744.1;PAPD4,missense_variant,p.His19Pro,ENST00000296783,;PAPD4,missense_variant,p.His19Pro,ENST00000504233,NM_001297745.1;PAPD4,missense_variant,p.His19Pro,ENST00000428308,;PAPD4,non_coding_transcript_exon_variant,,ENST00000503620,;PAPD4,non_coding_transcript_exon_variant,,ENST00000515807,;PAPD4,non_coding_transcript_exon_variant,,ENST00000514095,;PAPD4,non_coding_transcript_exon_variant,,ENST00000508620,;PAPD4,non_coding_transcript_exon_variant,,ENST00000505571,;	C	ENST00000453514	Transcript	missense_variant	749/3523	56/1455	19/484	H/P	cAt/cCt	rs754089479	1		1	PAPD4	HGNC	HGNC:26776	protein_coding	YES	CCDS4048.1	ENSP00000397563	Q6PIY7		UPI000013E386	NM_001114394.1,NM_001114393.1,NM_173797.3	tolerated_low_confidence(0.23)		2/15		hmmpanther:PTHR12271																	MODERATE	1	SNV	5			1										PASS		rs754089479	.												C	3	2	86	79619704	79619704	A	C	1	0	0	0	0	1	0	0	0	11505	217	8	5		5	PAPD4	5	79619704	Missense_Mutation	SNP	A	C3N-02002_TP	48320136	79619704	101918555	12	28344											
SPZ1	0	.	GRCh38	chr5	80321038	80321038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatcctatcagaaatctCagaaagacataagtgaaact	20	9	5	7	0	2	4	2	1	1	3	4	4	3	4	1	0	1	0	1	0	7	3	novel		C3N-02002_TP	C3N-02002_NB	C	C																c.823C>A	p.Gln275Lys	p.Q275K	ENST00000296739	1/1	165	155	10	204	204	0	strelka-varscan-mutect	SPZ1,missense_variant,p.Gln275Lys,ENST00000296739,NM_032567.3;SPZ1,downstream_gene_variant,,ENST00000511881,;	A	ENST00000296739	Transcript	missense_variant	1064/1868	823/1293	275/430	Q/K	Cag/Aag		1		1	SPZ1	HGNC	HGNC:30721	protein_coding	YES	CCDS43336.1	ENSP00000369611	Q9BXG8	A0A140VKA5	UPI000020CBA6	NM_032567.3	deleterious(0.02)		1/1		hmmpanther:PTHR23158:SF40,hmmpanther:PTHR23158																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	86	80321038	80321038	C	A	1	0	0	0	0	1	0	0	0	15486	827	29	2		2	SPZ1	5	80321038	Missense_Mutation	SNP	C	C3N-02002_TP	701334	80321038	101217221	13	28345											
VCAN	0	.	GRCh38	chr5	83540301	83540301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccttctggagaaggatCtggagaagtggatattgttg	11	12	14	4	0	2	3	0	1	2	2	2	7	2	5	1	4	1	1	1	4	4	4	rs764887873		C3N-02002_TP	C3N-02002_NB	C	C																c.7298C>A	p.Ser2433Tyr	p.S2433Y	ENST00000265077	8/15	494	465	29	554	554	0	strelka-varscan-mutect	VCAN,missense_variant,p.Ser2433Tyr,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Ser1446Tyr,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	A	ENST00000265077	Transcript	missense_variant	7863/12625	7298/10191	2433/3396	S/Y	tCt/tAt	rs764887873	1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	deleterious(0)		8/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6																	MODERATE	1	SNV	1			1										PASS		rs764887873	.												A	3	1	86	83540301	83540301	C	A	1	0	0	0	0	1	0	0	0	17683	913	32	2		2	VCAN	5	83540301	Missense_Mutation	SNP	C	C3N-02002_TP	3219263	83540301	97997958	14	28346											
UQCRQ	0	.	GRCh38	chr5	132867516	132867520	+	Frame_Shift_Del	DEL	ATGGG	ATGGG	-																															gtgttttatcttatctacacAtgggggactgaagagttcga																								novel		C3N-02002_TP	C3N-02002_NB	ATGGG	ATGGG																c.183_187delATGGG	p.Trp62AspfsTer2	p.W62Dfs*2	ENST00000378670	3/3	306	274	32	405	405	0	sindel-varindel	UQCRQ,frameshift_variant,p.Trp62AspfsTer2,ENST00000378670,;UQCRQ,frameshift_variant,p.Trp62AspfsTer2,ENST00000378665,;UQCRQ,frameshift_variant,p.Trp62AspfsTer2,ENST00000378667,NM_014402.4;GDF9,upstream_gene_variant,,ENST00000378673,NM_005260.4;LEAP2,upstream_gene_variant,,ENST00000296877,NM_052971.2;GDF9,upstream_gene_variant,,ENST00000621295,NM_001288825.2;GDF9,upstream_gene_variant,,ENST00000624492,NM_001288824.2;GDF9,upstream_gene_variant,,ENST00000624495,NM_001288828.2,NM_001288826.2;GDF9,upstream_gene_variant,,ENST00000296875,NM_001288827.2;UQCRQ,non_coding_transcript_exon_variant,,ENST00000496429,;GDF9,upstream_gene_variant,,ENST00000464378,;GDF9,upstream_gene_variant,,ENST00000472320,;UQCRQ,non_coding_transcript_exon_variant,,ENST00000498309,;UQCRQ,downstream_gene_variant,,ENST00000480372,;	-	ENST00000378670	Transcript	frameshift_variant	324-328/839	183-187/249	61-63/82	TWG/TX	acATGGGgg/acgg		1		1	UQCRQ	HGNC	HGNC:29594	protein_coding	YES	CCDS34237.1	ENSP00000367939	O14949		UPI000015D476				3/3		hmmpanther:PTHR12119,hmmpanther:PTHR12119:SF3,Pfam_domain:PF02939,Gene3D:1.20.5.210,Superfamily_domains:SSF81508,PD331499																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	86	132867516	132867516	ATGGG	-	1	0	1	0	1	0	0	0	0	17552	204	8	0		0	UQCRQ	5	132867516	Frame_Shift_Del	DEL	ATGGG	C3N-02002_TP	49327215	132867516	48670743	15	28347	598	2									
UQCRQ	0	.	GRCh38	chr5	132867521	132867521	+	Missense_Mutation	SNP	G	G	C																															ttatcttatctacacatgggGgactgaagagttcgagagat																								rs373714379		C3N-02002_TP	C3N-02002_NB	G	G																c.188G>C	p.Gly63Ala	p.G63A	ENST00000378670	3/3	337	302	35	396	396	0	strelka-varscan-mutect	UQCRQ,missense_variant,p.Gly63Ala,ENST00000378670,;UQCRQ,missense_variant,p.Gly63Ala,ENST00000378665,;UQCRQ,missense_variant,p.Gly63Ala,ENST00000378667,NM_014402.4;GDF9,upstream_gene_variant,,ENST00000378673,NM_005260.4;LEAP2,upstream_gene_variant,,ENST00000296877,NM_052971.2;GDF9,upstream_gene_variant,,ENST00000621295,NM_001288825.2;GDF9,upstream_gene_variant,,ENST00000624492,NM_001288824.2;GDF9,upstream_gene_variant,,ENST00000624495,NM_001288828.2,NM_001288826.2;GDF9,upstream_gene_variant,,ENST00000296875,NM_001288827.2;UQCRQ,non_coding_transcript_exon_variant,,ENST00000496429,;GDF9,upstream_gene_variant,,ENST00000464378,;GDF9,upstream_gene_variant,,ENST00000472320,;UQCRQ,non_coding_transcript_exon_variant,,ENST00000498309,;UQCRQ,downstream_gene_variant,,ENST00000480372,;	C	ENST00000378670	Transcript	missense_variant	329/839	188/249	63/82	G/A	gGg/gCg	rs373714379	1		1	UQCRQ	HGNC	HGNC:29594	protein_coding	YES	CCDS34237.1	ENSP00000367939	O14949		UPI000015D476		tolerated(0.54)		3/3		hmmpanther:PTHR12119,hmmpanther:PTHR12119:SF3,Pfam_domain:PF02939,Gene3D:1.20.5.210,Superfamily_domains:SSF81508,PD331499																	MODERATE	1	SNV	1			1										PASS		rs373714379	.												C	3	2	86	132867521	132867521	G	C	1	0	0	0	0	1	0	0	0	17552	1232	43	4		4	UQCRQ	5	132867521	Missense_Mutation	SNP	G	C3N-02002_TP	5	132867521	48670738	16	28348	598	2									
PCDHA12	0	.	GRCh38	chr5	140875559	140875559	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctgggaggtggggagcggCcagctccactactccgtcta	6	7	15	13	2	1	0	0	0	1	0	3	2	3	2	4	5	3	1	4	5	2	2	novel		C3N-02002_TP	C3N-02002_NB	C	C																c.87C>A	p.=	p.G29G	ENST00000398631	1/4	266	168	98	377	376	1	strelka-varscan-mutect	PCDHA12,synonymous_variant,p.=,ENST00000398631,NM_018903.3;PCDHA12,synonymous_variant,p.=,ENST00000613593,NM_031864.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA11,intron_variant,,ENST00000398640,NM_018902.4;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA11,intron_variant,,ENST00000617408,;PCDHA11,downstream_gene_variant,,ENST00000616325,NM_031861.2;AC005609.18,non_coding_transcript_exon_variant,,ENST00000624566,;AC005609.17,downstream_gene_variant,,ENST00000625195,;	A	ENST00000398631	Transcript	synonymous_variant	87/5233	87/2826	29/941	G	ggC/ggA		1		1	PCDHA12	HGNC	HGNC:8666	protein_coding	YES	CCDS47285.1	ENSP00000381628	Q9UN75		UPI00001273D5	NM_018903.3			1/4		Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF76,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	86	140875559	140875559	C	A	1	0	0	0	0	0	0	0	1	11609	726	26	2		2	PCDHA12	5	140875559	Silent	SNP	C	C3N-02002_TP	8008038	140875559	40662700	17	28349											
ZNF300	0	.	GRCh38	chr5	150895563	150895563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacaaggtctgacttctgaGaaaaggcctttccacattca	14	10	7	10	0	3	2	1	2	2	1	4	3	4	2	2	2	1	0	2	2	4	3	novel		C3N-02002_TP	C3N-02002_NB	G	G																c.1724C>G	p.Ser575Cys	p.S575C	ENST00000446148	7/7	113	78	35	158	158	0	strelka-varscan-mutect	ZNF300,missense_variant,p.Ser575Cys,ENST00000446148,NM_001172831.1;ZNF300,missense_variant,p.Ser559Cys,ENST00000274599,NM_052860.2;ZNF300,missense_variant,p.Ser559Cys,ENST00000394226,;ZNF300,missense_variant,p.Ser523Cys,ENST00000418587,NM_001172832.1;ZNF300,3_prime_UTR_variant,,ENST00000427179,;IRGM,intron_variant,,ENST00000520549,;	C	ENST00000446148	Transcript	missense_variant	2152/3323	1724/1863	575/620	S/C	tCt/tGt		1		-1	ZNF300	HGNC	HGNC:13091	protein_coding	YES	CCDS54940.1	ENSP00000397178	Q96RE9		UPI0001AE74AD	NM_001172831.1	tolerated(0.08)		7/7		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF320,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	86	150895563	150895563	G	C	1	0	0	0	0	1	0	0	0	18406	942	33	4		4	ZNF300	5	150895563	Missense_Mutation	SNP	G	C3N-02002_TP	10020004	150895563	30642696	18	28350											
LRRC16A	0	.	GRCh38	chr6	25581348	25581349	+	Frame_Shift_Ins	INS	-	-	T																															cggagctcgggatttatctcINStgagttgccctctgaagagg																								novel		C3N-02002_TP	C3N-02002_NB	-	-																c.2916dupT	p.Glu973Ter	p.E973*	ENST00000329474	31/37	179	168	11	250	249	1	varindel-pindel	LRRC16A,frameshift_variant,p.Glu973Ter,ENST00000329474,NM_001173977.1,NM_017640.5;LRRC16A,frameshift_variant,p.Glu573Ter,ENST00000635618,;	T	ENST00000329474	Transcript	frameshift_variant	3283-3284/5431	2915-2916/4116	972/1371	S/SX	tct/tcTt		1		1	LRRC16A	HGNC	HGNC:21581	protein_coding	YES	CCDS54973.1	ENSP00000331983	Q5VZK9		UPI00004588AB	NM_001173977.1,NM_017640.5			31/37		Pfam_domain:PF16000,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF39																	HIGH	1	insertion	1	1		1										PASS		.	.												T	7	5	86	25581348	25581348	-	T	1	0	1	1	0	0	0	0	0	8867	913	32	0		0	LRRC16A	6	25581348	Frame_Shift_Ins	INS	-	C3N-02002_TP		25581348	145224631	19	28351											
NOTCH4	0	.	GRCh38	chr6	32196930	32196930	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcctctacataccccatTtatctctggcccccacgtct	6	13	3	19	1	3	0	0	0	3	0	5	0	4	0	6	1	2	0	6	1	3	5	novel		C3N-02002_TP	C3N-02002_NB	T	T																c.5195A>C	p.Lys1732Thr	p.K1732T	ENST00000375023	28/30	108	92	16	159	159	0	strelka-varscan	NOTCH4,missense_variant,p.Lys1732Thr,ENST00000375023,NM_004557.3;GPSM3,upstream_gene_variant,,ENST00000375040,NM_001276501.1;GPSM3,upstream_gene_variant,,ENST00000487761,;GPSM3,upstream_gene_variant,,ENST00000375043,NM_022107.1;GPSM3,upstream_gene_variant,,ENST00000619085,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000474612,;NOTCH4,non_coding_transcript_exon_variant,,ENST00000491215,;GPSM3,upstream_gene_variant,,ENST00000472768,;	G	ENST00000375023	Transcript	missense_variant	5334/6745	5195/6012	1732/2003	K/T	aAa/aCa		1		-1	NOTCH4	HGNC	HGNC:7884	protein_coding	YES	CCDS34420.1	ENSP00000364163	Q99466		UPI0000130571	NM_004557.3	deleterious(0.01)		28/30		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF64,Gene3D:1.25.40.20,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	86	32196930	32196930	T	G	1	0	0	0	0	1	0	0	0	10596	1855	64	5		5	NOTCH4	6	32196930	Missense_Mutation	SNP	T	C3N-02002_TP	6615582	32196930	138609049	20	28352											
TFAP2D	0	.	GRCh38	chr6	50751296	50751296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactccaattctagaccttGacatccagagacatttaaca	14	10	4	13	0	1	3	0	1	1	2	3	4	3	3	4	0	1	0	4	0	3	5	novel		C3N-02002_TP	C3N-02002_NB	G	G																c.1111G>A	p.Asp371Asn	p.D371N	ENST00000008391	7/8	195	177	18	259	259	0	strelka-varscan-mutect	TFAP2D,missense_variant,p.Asp371Asn,ENST00000008391,NM_172238.3;TFAP2D,downstream_gene_variant,,ENST00000492804,;	A	ENST00000008391	Transcript	missense_variant	1339/1711	1111/1359	371/452	D/N	Gac/Aac		1		1	TFAP2D	HGNC	HGNC:15581	protein_coding	YES	CCDS4933.1	ENSP00000008391	Q7Z6R9		UPI00001A3A89	NM_172238.3	tolerated(0.2)		7/8		hmmpanther:PTHR10812:SF5,hmmpanther:PTHR10812,Pfam_domain:PF03299																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	86	50751296	50751296	G	A	1	0	0	0	0	1	0	0	0	16223	1290	45	3		3	TFAP2D	6	50751296	Missense_Mutation	SNP	G	C3N-02002_TP	18554366	50751296	120054683	21	28353											
MAP3K7	0	.	GRCh38	chr6	90516551	90516552	+	Frame_Shift_Ins	INS	-	-	T																															cttctgatgacctctagttgINSttttttgcattgctggtagt																								novel		C3N-02002_TP	C3N-02002_NB	-	-																c.1770dupA	p.Gln591ThrfsTer41	p.Q591Tfs*41	ENST00000369329	17/17	228	168	60	340	339	1	sindel-varindel-pindel	MAP3K7,frameshift_variant,p.Gln591ThrfsTer41,ENST00000369329,NM_145331.2;MAP3K7,frameshift_variant,p.Gln564ThrfsTer41,ENST00000369332,NM_003188.3;MAP3K7,frameshift_variant,p.Gln245ThrfsTer41,ENST00000369320,;MAP3K7,3_prime_UTR_variant,,ENST00000369325,NM_145332.2;MAP3K7,3_prime_UTR_variant,,ENST00000369327,NM_145333.2;MAP3K7,non_coding_transcript_exon_variant,,ENST00000479630,;	T	ENST00000369329	Transcript	frameshift_variant	1932-1933/4911	1770-1771/1821	590-591/606	-/X	-/A		1		-1	MAP3K7	HGNC	HGNC:6859	protein_coding	YES	CCDS5028.1	ENSP00000358335	O43318		UPI000012EAD6	NM_145331.2			17/17		PIRSF_domain:PIRSF038168																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	86	90516551	90516551	-	T	1	0	1	1	0	0	0	0	0	9178	1386	48	0		0	MAP3K7	6	90516551	Frame_Shift_Ins	INS	-	C3N-02002_TP	39765255	90516551	80289428	22	28354											
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcacagattttgggcTggccaaactgctgggtgcgg	9	9	14	9	1	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	2	2	rs121434568		C3N-02002_TP	C3N-02002_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	463	312	151	545	545	0	strelka-varscan	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												G	3	3	86	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3N-02002_TP		55191822	104154151	23	28355											
ZNF92	0	.	GRCh38	chr7	65398599	65398600	+	Frame_Shift_Ins	INS	-	-	A																															aaatttccaaatgtaaatagINSaaataagataagacatactg																								novel		C3N-02002_TP	C3N-02002_NB	-	-																c.488dupA	p.Asn163LysfsTer2	p.N163Kfs*2	ENST00000328747	4/4	38	23	15	118	118	0	sindel-varindel-pindel	ZNF92,frameshift_variant,p.Asn163LysfsTer2,ENST00000328747,NM_152626.3;ZNF92,frameshift_variant,p.Asn131LysfsTer2,ENST00000357512,NM_001287532.1;ZNF92,frameshift_variant,p.Asn94LysfsTer2,ENST00000450302,NM_007139.3;ZNF92,frameshift_variant,p.Asn87LysfsTer2,ENST00000431504,NM_001287534.1,NM_001287533.1;	A	ENST00000328747	Transcript	frameshift_variant	684-685/3210	485-486/1761	162/586	R/RX	aga/agAa		1		1	ZNF92	HGNC	HGNC:13168	protein_coding	YES	CCDS34646.1	ENSP00000332595	Q03936	V9HVY7	UPI0000073CE6	NM_152626.3			4/4		Gene3D:3.30.160.60,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF125,Superfamily_domains:SSF57667																	HIGH	1	insertion	1	3		1										PASS		.	.												A	7	5	86	65398599	65398599	-	A	1	0	1	1	0	0	0	0	0	18794	942	33	0		0	ZNF92	7	65398599	Frame_Shift_Ins	INS	-	C3N-02002_TP	10206777	65398599	93947374	24	28356											
OPLAH	0	.	GRCh38	chr8	144054885	144054885	+	Frame_Shift_Del	DEL	G	G	-																															tgctcagtagcacgtcgccaGggtggagatcggcccccagg																								novel		C3N-02002_TP	C3N-02002_NB	G	G																c.2438delC	p.Pro813LeufsTer6	p.P813Lfs*6	ENST00000618853	18/27	91	60	31	120	120	0	sindel-varindel-pindel	OPLAH,frameshift_variant,p.Pro813LeufsTer6,ENST00000618853,NM_017570.4;OPLAH,downstream_gene_variant,,ENST00000567871,;MIR6846,downstream_gene_variant,,ENST00000613469,;SMPD5,downstream_gene_variant,,ENST00000528912,;SMPD5,downstream_gene_variant,,ENST00000561181,;OPLAH,upstream_gene_variant,,ENST00000527993,;OPLAH,upstream_gene_variant,,ENST00000531027,;	-	ENST00000618853	Transcript	frameshift_variant	2542/4031	2438/3867	813/1288	P/X	cCt/ct		1		-1	OPLAH	HGNC	HGNC:8149	protein_coding	YES	CCDS75802.1	ENSP00000480476	O14841		UPI000035154E	NM_017570.4			18/27		Pfam_domain:PF02538,hmmpanther:PTHR11365,hmmpanther:PTHR11365:SF2																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	86	144054885	144054885	G	-	1	0	1	0	1	0	0	0	0	10953	1000	35	0		0	OPLAH	8	144054885	Frame_Shift_Del	DEL	G	C3N-02002_TP		144054885	1083751	25	28357											
KIAA1161	0	.	GRCh38	chr9	34372393	34372393	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggcgccaccataccagTgggccgccgcgtcgcccaag	6	5	12	18	6	1	0	0	0	1	0	3	0	1	0	6	2	1	0	6	2	2	1	novel		C3N-02002_TP	C3N-02002_NB	T	T																c.551A>C	p.His184Pro	p.H184P	ENST00000297625	2/2	124	104	20	116	115	1	strelka-varscan-mutect	KIAA1161,missense_variant,p.His184Pro,ENST00000297625,NM_020702.4;KIAA1161,intron_variant,,ENST00000379142,;	G	ENST00000297625	Transcript	missense_variant	675/6398	551/2145	184/714	H/P	cAc/cCc		1		-1	KIAA1161	HGNC	HGNC:19918	protein_coding	YES	CCDS78391.1	ENSP00000297625	Q6NSJ0		UPI0001588862	NM_020702.4	deleterious(0)		2/2		hmmpanther:PTHR22762:SF70,hmmpanther:PTHR22762																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	86	34372393	34372393	T	G	1	0	0	0	0	1	0	0	0	8104	1696	59	5		5	KIAA1161	9	34372393	Missense_Mutation	SNP	T	C3N-02002_TP		34372393	104022324	26	28358											
GOLGA1	0	.	GRCh38	chr9	124888389	124888389	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagggtcctgcatggccctcGaggtcacctacaaggtggca	8	7	13	13	1	1	0	1	0	0	0	3	1	2	0	3	5	2	2	3	5	2	1	rs757022400		C3N-02002_TP	C3N-02002_NB	G	G																c.1769C>G	p.Ser590Trp	p.S590W	ENST00000373555	19/23	120	113	7	176	176	0	strelka-varscan-mutect	GOLGA1,missense_variant,p.Ser590Trp,ENST00000373555,NM_002077.3;RNU4-82P,upstream_gene_variant,,ENST00000362443,;GOLGA1,3_prime_UTR_variant,,ENST00000475407,;GOLGA1,downstream_gene_variant,,ENST00000485337,;	C	ENST00000373555	Transcript	missense_variant	2103/4811	1769/2304	590/767	S/W	tCg/tGg	rs757022400	1		-1	GOLGA1	HGNC	HGNC:4424	protein_coding	YES	CCDS6860.1	ENSP00000362656	Q92805		UPI000013D059	NM_002077.3	deleterious(0.02)		19/23		hmmpanther:PTHR23157:SF24,hmmpanther:PTHR23157																	MODERATE	1	SNV	1			1										PASS		rs757022400	.												C	3	2	86	124888389	124888389	G	C	1	0	0	0	0	1	0	0	0	6430	1059	37	4		4	GOLGA1	9	124888389	Missense_Mutation	SNP	G	C3N-02002_TP	90515996	124888389	13506328	27	28359											
HMCN2	0	.	GRCh38	chr9	130265931	130265931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgcggtctctgcggcagTggcagtggcagtggccgggg	4	6	20	11	4	1	0	0	0	1	0	2	1	1	0	2	7	1	3	2	7	0	0	novel		C3N-02002_TP	C3N-02002_NB	T	T																c.50T>C	p.Val17Ala	p.V17A	ENST00000624552	1/98	15	11	4	52	52	0	varscan-mutect	HMCN2,missense_variant,p.Val17Ala,ENST00000624552,NM_001291815.1;	C	ENST00000624552	Transcript	missense_variant	50/15610	50/15180	17/5059	V/A	gTg/gCg		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	tolerated_low_confidence(0.53)		1/98		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	86	130265931	130265931	T	C	1	0	0	0	0	1	0	0	0	7112	1696	59	5		5	HMCN2	9	130265931	Missense_Mutation	SNP	T	C3N-02002_TP	5377542	130265931	8128786	28	28360											
SEC16A	0	.	GRCh38	chr9	136443871	136443872	+	Frame_Shift_Ins	INS	-	-	C																															gcatggccccgctgggagggINSccccctgcagcagggaggtc																								novel		C3N-02002_TP	C3N-02002_NB	-	-																c.6956dupG	p.Pro2321SerfsTer75	p.P2321Sfs*75	ENST00000313050	29/30	177	150	27	180	180	0	sindel-varindel-pindel	SEC16A,frameshift_variant,p.Pro2298SerfsTer75,ENST00000290037,NM_001276418.1;SEC16A,frameshift_variant,p.Pro2321SerfsTer75,ENST00000313050,NM_014866.1;SEC16A,frameshift_variant,p.Pro2098SerfsTer75,ENST00000371706,;SEC16A,frameshift_variant,p.Pro2118SerfsTer?,ENST00000431893,;SEC16A,frameshift_variant,p.Pro1023SerfsTer75,ENST00000453963,;SEC16A,frameshift_variant,p.Pro715SerfsTer75,ENST00000277537,;SEC16A,frameshift_variant,p.Pro349SerfsTer75,ENST00000313084,;INPP5E,upstream_gene_variant,,ENST00000371712,NM_001318502.1,NM_019892.4;SEC16A,non_coding_transcript_exon_variant,,ENST00000467838,;INPP5E,upstream_gene_variant,,ENST00000635815,;	C	ENST00000313050	Transcript	frameshift_variant	7030-7031/8806	6956-6957/7074	2319/2357	G/GX	ggc/ggGc		1		-1	SEC16A	HGNC	HGNC:29006	protein_coding	YES	CCDS55351.1	ENSP00000325827		J3KNL6	UPI0000F0888B	NM_014866.1			29/30		hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF13,Low_complexity_(Seg):seg																	HIGH	1	insertion	1			1										PASS		.	.												C	7	5	86	136443871	136443871	-	C	1	0	1	1	0	0	0	0	0	14263	1190	42	0		0	SEC16A	9	136443871	Frame_Shift_Ins	INS	-	C3N-02002_TP	6177940	136443871	1950846	29	28361											
PRRG4	0	.	GRCh38	chr11	32836768	32836768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaaagagagtgcaatgaaGaactttgcaattatgaggaa	18	9	11	3	0	0	5	0	2	0	3	0	7	0	6	0	1	3	2	0	1	8	3	novel		C3N-02002_TP	C3N-02002_NB	G	G																c.214G>A	p.Glu72Lys	p.E72K	ENST00000257836	3/6	170	126	44	228	228	0	strelka-varscan-mutect	PRRG4,missense_variant,p.Glu72Lys,ENST00000257836,NM_024081.5;	A	ENST00000257836	Transcript	missense_variant	467/5530	214/681	72/226	E/K	Gaa/Aaa		1		1	PRRG4	HGNC	HGNC:30799	protein_coding	YES	CCDS7881.1	ENSP00000257836	Q9BZD6	A0A0S2Z5N9	UPI000013707A	NM_024081.5	deleterious(0)		3/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS50998,hmmpanther:PTHR24251:SF15,hmmpanther:PTHR24251,PROSITE_patterns:PS00011,Gene3D:4.10.740.10,Pfam_domain:PF00594,SMART_domains:SM00069,Superfamily_domains:SSF57630,Prints_domain:PR00001																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	86	32836768	32836768	G	A	1	0	0	0	0	1	0	0	0	12754	943	33	3		3	PRRG4	11	32836768	Missense_Mutation	SNP	G	C3N-02002_TP		32836768	102249854	30	28362											
OR5AK2	0	.	GRCh38	chr11	56989126	56989126	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttggcttttgttgatatCtgttacacttctgctatcac	7	19	6	9	0	3	1	1	1	2	0	3	1	3	1	0	1	2	4	0	1	3	8			C3N-02002_TP	C3N-02002_NB	C	C																c.213C>A	p.=	p.I71I	ENST00000326855	1/1	97	86	11	168	168	0	strelka-varscan-mutect	OR5AK2,synonymous_variant,p.=,ENST00000326855,NM_001005323.1;	A	ENST00000326855	Transcript	synonymous_variant	255/996	213/930	71/309	I	atC/atA	COSM3449593	1		1	OR5AK2	HGNC	HGNC:15251	protein_coding	YES	CCDS31538.1	ENSP00000322784	Q8NH90	A0A126GW20	UPI0000041D03	NM_001005323.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF47,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						LOW	1	SNV			1	1										PASS		.	.												A	2	1	86	56989126	56989126	C	A	1	0	0	0	0	0	0	0	1	11214	903	32	2		2	OR5AK2	11	56989126	Silent	SNP	C	C3N-02002_TP	24152358	56989126	78097496	31	28363											
CD163L1	0	.	GRCh38	chr12	7403685	7403685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attactaggtttagcacgacGactgccaaagacgctgaacg	13	8	10	10	4	0	2	0	1	0	1	0	4	0	2	1	1	4	3	1	1	5	4	rs779416105		C3N-02002_TP	C3N-02002_NB	G	G																c.1288C>T	p.Arg430Cys	p.R430C	ENST00000416109	6/20	247	219	28	452	452	0	strelka-varscan-mutect	CD163L1,missense_variant,p.Arg420Cys,ENST00000313599,NM_174941.5;CD163L1,missense_variant,p.Arg430Cys,ENST00000416109,NM_001297650.1;CD163L1,missense_variant,p.Arg66Cys,ENST00000545926,;	A	ENST00000416109	Transcript	missense_variant	1307/4603	1288/4392	430/1463	R/C	Cgt/Tgt	rs779416105,COSM4462727	1		-1	CD163L1	HGNC	HGNC:30375	protein_coding	YES	CCDS73434.1	ENSP00000393474	Q9NR16		UPI0001AE6A76	NM_001297650.1	tolerated(0.06)		6/20		PROSITE_profiles:PS50287,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs779416105	.												A	3	1	86	7403685	7403685	G	A	1	0	0	0	0	1	0	0	0	2671	1058	37	1		1	CD163L1	12	7403685	Missense_Mutation	SNP	G	C3N-02002_TP		7403685	125871624	32	28364											
EIF4B	0	.	GRCh38	chr12	53018805	53018805	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctatcctagtttcgacCacttggcacagtaacgatga	10	12	7	12	2	1	1	0	1	1	0	4	3	3	1	3	1	1	3	3	1	3	5	novel		C3N-02002_TP	C3N-02002_NB	C	C																c.159C>A	p.=	p.T53T	ENST00000420463	3/15	196	182	14	263	258	5	varscan-mutect	EIF4B,synonymous_variant,p.=,ENST00000262056,NM_001417.5;EIF4B,synonymous_variant,p.=,ENST00000416762,;EIF4B,synonymous_variant,p.=,ENST00000420463,NM_001300821.1;EIF4B,synonymous_variant,p.=,ENST00000549481,;EIF4B,synonymous_variant,p.=,ENST00000552490,;EIF4B,synonymous_variant,p.=,ENST00000551002,;RP11-983P16.4,non_coding_transcript_exon_variant,,ENST00000549388,;RP11-983P16.4,intron_variant,,ENST00000552905,;RP11-983P16.2,downstream_gene_variant,,ENST00000435621,;EIF4B,non_coding_transcript_exon_variant,,ENST00000551527,;EIF4B,non_coding_transcript_exon_variant,,ENST00000549645,;EIF4B,synonymous_variant,p.=,ENST00000550704,;EIF4B,synonymous_variant,p.=,ENST00000549077,;EIF4B,synonymous_variant,p.=,ENST00000550390,;EIF4B,upstream_gene_variant,,ENST00000550025,;	A	ENST00000420463	Transcript	synonymous_variant	187/1936	159/1851	53/616	T	acC/acA		1		1	EIF4B	HGNC	HGNC:3285	protein_coding	YES	CCDS73474.1	ENSP00000388806		E7EX17	UPI0001AE6B15	NM_001300821.1			3/15		hmmpanther:PTHR23236:SF2,hmmpanther:PTHR23236																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	86	53018805	53018805	C	A	1	0	0	0	0	0	0	0	1	4861	581	21	2		2	EIF4B	12	53018805	Silent	SNP	C	C3N-02002_TP	45615120	53018805	80256504	33	28365											
EFS	0	.	GRCh38	chr14	23357550	23357550	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactggacatcagggctgcCacggctgcctgcagggctga	7	7	15	12	1	1	1	1	1	0	0	1	2	1	2	2	4	4	5	2	4	1	1	novel		C3N-02002_TP	C3N-02002_NB	C	C																c.1362G>T	p.=	p.V454V	ENST00000216733	6/6	51	44	7	89	89	0	strelka-varscan-mutect	EFS,synonymous_variant,p.=,ENST00000216733,NM_005864.3;EFS,synonymous_variant,p.=,ENST00000351354,NM_032459.2;EFS,synonymous_variant,p.=,ENST00000429593,NM_001277174.1;SLC22A17,upstream_gene_variant,,ENST00000397267,;SLC22A17,upstream_gene_variant,,ENST00000206544,NM_020372.3;SLC22A17,upstream_gene_variant,,ENST00000354772,;RP11-124D2.3,downstream_gene_variant,,ENST00000554010,;SLC22A17,upstream_gene_variant,,ENST00000397260,;SLC22A17,upstream_gene_variant,,ENST00000474057,;SLC22A17,upstream_gene_variant,,ENST00000557699,;SLC22A17,upstream_gene_variant,,ENST00000636431,;	A	ENST00000216733	Transcript	synonymous_variant	1970/3118	1362/1686	454/561	V	gtG/gtT		1		-1	EFS	HGNC	HGNC:16898	protein_coding	YES	CCDS9595.1	ENSP00000216733	O43281		UPI0000129D21	NM_005864.3			6/6		hmmpanther:PTHR10654,hmmpanther:PTHR10654:SF14,Pfam_domain:PF12026																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	86	23357550	23357550	C	A	1	0	0	0	0	0	0	0	1	4796	581	21	2		2	EFS	14	23357550	Silent	SNP	C	C3N-02002_TP		23357550	83686168	34	28366											
BAHD1	0	.	GRCh38	chr15	40458625	40458625	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcacagggcgccgcaagaAttacccacttcgtaagcgcc	10	6	9	16	4	1	1	1	0	0	1	2	1	1	1	4	1	2	2	4	1	4	3	novel		C3N-02002_TP	C3N-02002_NB	A	A																c.161A>G	p.Asn54Ser	p.N54S	ENST00000416165	2/7	75	64	11	143	143	0	strelka-varscan-mutect	BAHD1,missense_variant,p.Asn54Ser,ENST00000561234,NM_001301132.1;BAHD1,missense_variant,p.Asn54Ser,ENST00000416165,NM_014952.4;BAHD1,missense_variant,p.Asn54Ser,ENST00000560846,;RP11-64K12.9,upstream_gene_variant,,ENST00000558601,;	G	ENST00000416165	Transcript	missense_variant	232/4526	161/2343	54/780	N/S	aAt/aGt		1		1	BAHD1	HGNC	HGNC:29153	protein_coding	YES	CCDS10058.1	ENSP00000396976	Q8TBE0	A0A024R9K2	UPI000013D778	NM_014952.4	tolerated(0.64)		2/7		hmmpanther:PTHR12505																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	86	40458625	40458625	A	G	1	0	0	0	0	1	0	0	0	1452	101	4	5		5	BAHD1	15	40458625	Missense_Mutation	SNP	A	C3N-02002_TP		40458625	61532564	35	28367											
MYO9A	0	.	GRCh38	chr15	71878142	71878142	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actggagattcacccagtgaAtcacgctgctcaagcctcat	11	9	8	13	1	4	2	4	1	0	1	4	3	4	2	2	1	2	2	2	1	2	1	rs190268567		C3N-02002_TP	C3N-02002_NB	A	A																c.5829T>G	p.Asp1943Glu	p.D1943E	ENST00000356056	31/42	100	88	12	143	143	0	strelka-mutect	MYO9A,missense_variant,p.Asp1943Glu,ENST00000356056,NM_006901.3;MYO9A,missense_variant,p.Asp1943Glu,ENST00000564571,;MYO9A,missense_variant,p.Asp1943Glu,ENST00000444904,;MYO9A,missense_variant,p.Asp793Glu,ENST00000561618,;	C	ENST00000356056	Transcript	missense_variant	6302/12411	5829/7647	1943/2548	D/E	gaT/gaG	rs190268567	1		-1	MYO9A	HGNC	HGNC:7608	protein_coding	YES	CCDS10239.1	ENSP00000348349	B2RTY4		UPI000013D213	NM_006901.3	tolerated(0.14)		31/42																			MODERATE	1	SNV	1			1										PASS		rs190268567	.												C	3	2	86	71878142	71878142	A	C	1	0	0	0	0	1	0	0	0	10085	98	4	5		5	MYO9A	15	71878142	Missense_Mutation	SNP	A	C3N-02002_TP	31419517	71878142	30113047	36	28368											
CREBBP	0	.	GRCh38	chr16	3778035	3778035	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcacaggttgtgcctGtggaatcacagggggctgag	8	9	16	8	0	2	1	2	1	1	0	3	2	2	2	1	5	1	2	1	5	1	1	novel		C3N-02002_TP	C3N-02002_NB	G	G																c.2089C>G	p.Gln697Glu	p.Q697E	ENST00000262367	10/31	215	142	73	240	240	0	strelka-varscan-mutect	CREBBP,missense_variant,p.Gln697Glu,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.Gln659Glu,ENST00000382070,NM_001079846.1;CREBBP,missense_variant,p.Gln232Glu,ENST00000570939,;CREBBP,missense_variant,p.Gln135Glu,ENST00000572134,;CREBBP,missense_variant,p.Gln47Glu,ENST00000571826,;CREBBP,downstream_gene_variant,,ENST00000635753,;CREBBP,downstream_gene_variant,,ENST00000636002,;CREBBP,non_coding_transcript_exon_variant,,ENST00000634839,;CREBBP,upstream_gene_variant,,ENST00000575237,;	C	ENST00000262367	Transcript	missense_variant	2899/10803	2089/7329	697/2442	Q/E	Cag/Gag		1		-1	CREBBP	HGNC	HGNC:2348	protein_coding	YES	CCDS10509.1	ENSP00000262367	Q92793		UPI0000000620	NM_004380.2	tolerated_low_confidence(0.09)		10/31		Low_complexity_(Seg):seg,hmmpanther:PTHR13808:SF5,hmmpanther:PTHR13808																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	86	3778035	3778035	G	C	1	0	0	0	0	1	0	0	0	3661	1386	48	4		4	CREBBP	16	3778035	Missense_Mutation	SNP	G	C3N-02002_TP		3778035	86560310	37	28369											
UBFD1	0	.	GRCh38	chr16	23562256	23562256	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagatgtgatgccatcTgttaagggggcccaggtaag	10	9	14	8	0	1	3	0	2	1	1	1	3	1	3	3	3	1	2	3	3	3	2	novel		C3N-02002_TP	C3N-02002_NB	T	T																c.615T>C	p.=	p.S205S	ENST00000395878	4/7	139	100	39	175	175	0	strelka-varscan-mutect	UBFD1,synonymous_variant,p.=,ENST00000395878,NM_019116.2;UBFD1,synonymous_variant,p.=,ENST00000567212,;EARS2,upstream_gene_variant,,ENST00000449606,NM_001083614.1;EARS2,upstream_gene_variant,,ENST00000563459,;EARS2,upstream_gene_variant,,ENST00000564501,;EARS2,upstream_gene_variant,,ENST00000563232,NM_001308211.1;UBFD1,downstream_gene_variant,,ENST00000567264,;UBFD1,non_coding_transcript_exon_variant,,ENST00000571064,;UBFD1,non_coding_transcript_exon_variant,,ENST00000563366,;UBFD1,upstream_gene_variant,,ENST00000564106,;EARS2,upstream_gene_variant,,ENST00000561859,;UBFD1,non_coding_transcript_exon_variant,,ENST00000565634,;UBFD1,upstream_gene_variant,,ENST00000566136,;UBFD1,downstream_gene_variant,,ENST00000569919,;EARS2,upstream_gene_variant,,ENST00000564668,;UBFD1,downstream_gene_variant,,ENST00000566669,;EARS2,upstream_gene_variant,,ENST00000564997,;EARS2,upstream_gene_variant,,ENST00000562799,;EARS2,upstream_gene_variant,,ENST00000563499,;EARS2,upstream_gene_variant,,ENST00000562581,;	C	ENST00000395878	Transcript	synonymous_variant	996/5110	615/930	205/309	S	tcT/tcC		1		1	UBFD1	HGNC	HGNC:30565	protein_coding	YES	CCDS10613.2	ENSP00000379217	O14562		UPI00001FF0A3	NM_019116.2			4/7		hmmpanther:PTHR16470																	LOW		SNV	2			1										PASS		.	.												C	2	2	86	23562256	23562256	T	C	1	0	0	0	0	0	0	0	1	17408	1567	55	5		5	UBFD1	16	23562256	Silent	SNP	T	C3N-02002_TP	19784221	23562256	66776089	38	28370											
RUNDC1	0	.	GRCh38	chr17	42981010	42981010	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttacgaagggcccggcgAccccgccagcgatgagggcg	8	3	17	13	6	0	1	0	1	0	0	0	4	0	1	4	4	2	1	4	4	2	1	novel		C3N-02002_TP	C3N-02002_NB	A	A																c.434A>T	p.Asp145Val	p.D145V	ENST00000361677	1/5	215	204	11	222	222	0	strelka-varscan	RUNDC1,missense_variant,p.Asp145Val,ENST00000361677,NM_001321381.1,NM_173079.2;RUNDC1,missense_variant,p.Asp144Val,ENST00000589705,;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000421990,NM_001136042.2;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000409399,;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000360221,NM_025267.3;PTGES3L,upstream_gene_variant,,ENST00000409446,NM_001142654.1;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000409103,;PTGES3L,upstream_gene_variant,,ENST00000424284,;PTGES3L,upstream_gene_variant,,ENST00000591916,NM_001261430.1;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000454303,;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000452752,;PTGES3L,upstream_gene_variant,,ENST00000451885,NM_001142653.1;RUNDC1,non_coding_transcript_exon_variant,,ENST00000590836,;PTGES3L,upstream_gene_variant,,ENST00000462157,;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000423601,;	T	ENST00000361677	Transcript	missense_variant	446/3828	434/1842	145/613	D/V	gAc/gTc		1		1	RUNDC1	HGNC	HGNC:25418	protein_coding	YES	CCDS11448.1	ENSP00000354622	Q96C34		UPI00001AED0E	NM_001321381.1,NM_173079.2	tolerated(0.14)		1/5		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	86	42981010	42981010	A	T	1	0	0	0	0	1	0	0	0	14004	275	10	4		4	RUNDC1	17	42981010	Missense_Mutation	SNP	A	C3N-02002_TP		42981010	40276431	39	28371											
USP36	0	.	GRCh38	chr17	78803908	78803908	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggcttgggggtactggAcagcaatgtggggtgggggc	5	8	23	5	0	0	0	0	0	0	0	0	1	0	1	0	9	2	3	0	9	2	2	novel		C3N-02002_TP	C3N-02002_NB	A	A																c.2287T>G	p.Ser763Ala	p.S763A	ENST00000542802	16/21	73	57	16	99	98	1	strelka-varscan-mutect	USP36,missense_variant,p.Ser763Ala,ENST00000542802,NM_001321291.1;USP36,missense_variant,p.Ser763Ala,ENST00000312010,NM_025090.3;USP36,upstream_gene_variant,,ENST00000592231,;USP36,downstream_gene_variant,,ENST00000449938,;USP36,upstream_gene_variant,,ENST00000588130,;USP36,downstream_gene_variant,,ENST00000588467,;USP36,missense_variant,p.Ser763Ala,ENST00000589225,;USP36,missense_variant,p.Ser763Ala,ENST00000588086,;USP36,upstream_gene_variant,,ENST00000587010,;	C	ENST00000542802	Transcript	missense_variant	2731/6063	2287/3372	763/1123	S/A	Tcc/Gcc		1		-1	USP36	HGNC	HGNC:20062	protein_coding	YES	CCDS32755.1	ENSP00000441214	Q9P275	A0A024R8V6	UPI00000398BB	NM_001321291.1	tolerated_low_confidence(0.13)		16/21																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	86	78803908	78803908	A	C	1	0	0	0	0	1	0	0	0	17609	275	10	5		5	USP36	17	78803908	Missense_Mutation	SNP	A	C3N-02002_TP	35822898	78803908	4453533	40	28372											
U2AF1L4	0	.	GRCh38	chr19	35744074	35744074	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggagacagctcaccgtgCacagcctgcccgttgaacca	11	5	10	15	2	1	2	1	1	0	1	1	3	1	2	4	1	5	3	4	1	1	1	novel		C3N-02002_TP	C3N-02002_NB	C	C																c.303G>T	p.=	p.V101V	ENST00000292879	4/6	187	164	23	215	215	0	strelka-varscan-mutect	U2AF1L4,synonymous_variant,p.=,ENST00000412391,;U2AF1L4,synonymous_variant,p.=,ENST00000378975,NM_001040425.2;U2AF1L4,synonymous_variant,p.=,ENST00000292879,NM_144987.3;PSENEN,upstream_gene_variant,,ENST00000587708,;IGFLR1,upstream_gene_variant,,ENST00000246532,;IGFLR1,upstream_gene_variant,,ENST00000592537,NM_024660.2;LIN37,upstream_gene_variant,,ENST00000301159,NM_019104.2;PSENEN,upstream_gene_variant,,ENST00000591949,;IGFLR1,upstream_gene_variant,,ENST00000592889,;IGFLR1,upstream_gene_variant,,ENST00000588992,;PSENEN,upstream_gene_variant,,ENST00000222266,NM_001281532.1,NM_172341.2;IGFLR1,upstream_gene_variant,,ENST00000591277,;IGFLR1,upstream_gene_variant,,ENST00000591748,;LIN37,upstream_gene_variant,,ENST00000587751,;U2AF1L4,downstream_gene_variant,,ENST00000587886,;IGFLR1,upstream_gene_variant,,ENST00000586140,;AC002398.11,downstream_gene_variant,,ENST00000591091,;AC002398.11,downstream_gene_variant,,ENST00000585365,;IGFLR1,upstream_gene_variant,,ENST00000587101,;U2AF1L4,downstream_gene_variant,,ENST00000588100,;LIN37,upstream_gene_variant,,ENST00000591076,;AD000671.6,3_prime_UTR_variant,,ENST00000589807,;U2AF1L4,3_prime_UTR_variant,,ENST00000587987,;U2AF1L4,3_prime_UTR_variant,,ENST00000591084,;U2AF1L4,3_prime_UTR_variant,,ENST00000594792,;U2AF1L4,3_prime_UTR_variant,,ENST00000591057,;U2AF1L4,3_prime_UTR_variant,,ENST00000589429,;U2AF1L4,3_prime_UTR_variant,,ENST00000600296,;U2AF1L4,3_prime_UTR_variant,,ENST00000601236,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000588892,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000588980,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000586476,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000590135,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000585554,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000592913,;U2AF1L4,non_coding_transcript_exon_variant,,ENST00000591855,;LIN37,upstream_gene_variant,,ENST00000595455,;LIN37,upstream_gene_variant,,ENST00000587108,;LIN37,upstream_gene_variant,,ENST00000590706,;IGFLR1,upstream_gene_variant,,ENST00000588018,;AC002398.9,upstream_gene_variant,,ENST00000591613,;IGFLR1,upstream_gene_variant,,ENST00000592693,;U2AF1L4,downstream_gene_variant,,ENST00000585771,;LIN37,upstream_gene_variant,,ENST00000592871,;IGFLR1,upstream_gene_variant,,ENST00000589175,;U2AF1L4,downstream_gene_variant,,ENST00000590650,;	A	ENST00000292879	Transcript	synonymous_variant	357/729	303/609	101/202	V	gtG/gtT		1		-1	U2AF1L4	HGNC	HGNC:23020	protein_coding	YES	CCDS12473.1	ENSP00000292879	Q8WU68		UPI000013E0DB	NM_144987.3			4/6		PROSITE_profiles:PS50102,hmmpanther:PTHR12620,hmmpanther:PTHR12620:SF3,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00361,Superfamily_domains:SSF54928,Prints_domain:PR01848																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	86	35744074	35744074	C	A	1	0	0	0	0	0	0	0	1	17338	724	25	2		2	U2AF1L4	19	35744074	Silent	SNP	C	C3N-02002_TP		35744074	22873542	41	28373											
ZNF146	0	.	GRCh38	chr19	36236956	36236956	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccagaagaagtacctcatAaaacatcagaacattcacac	18	6	6	11	0	3	3	3	0	0	3	3	3	3	3	2	1	3	1	2	1	6	3	novel		C3N-02002_TP	C3N-02002_NB	A	A																c.516A>T	p.=	p.I172I	ENST00000456324	3/3	140	108	32	245	245	0	strelka-varscan-mutect	ZNF146,synonymous_variant,p.=,ENST00000456324,NM_001099638.1,NM_001099639.1;ZNF146,synonymous_variant,p.=,ENST00000443387,NM_007145.2;ZNF565,intron_variant,,ENST00000355114,;ZNF146,downstream_gene_variant,,ENST00000586094,;ZNF146,downstream_gene_variant,,ENST00000591063,;ZNF146,downstream_gene_variant,,ENST00000587285,;	T	ENST00000456324	Transcript	synonymous_variant	1965/3780	516/879	172/292	I	atA/atT		1		1	ZNF146	HGNC	HGNC:12931	protein_coding	YES	CCDS12492.1	ENSP00000400391	Q15072		UPI000013E6EC	NM_001099638.1,NM_001099639.1			3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	86	36236956	36236956	A	T	1	0	0	0	0	0	0	0	1	18314	352	13	4		4	ZNF146	19	36236956	Silent	SNP	A	C3N-02002_TP	492882	36236956	22380660	42	28374											
ADCK4	0	.	GRCh38	chr19	40702667	40702667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccagctcctgctgcaaggCctgcaggctctgctcggcaa	7	7	12	15	1	1	0	0	0	1	0	3	0	2	0	3	3	6	7	3	3	2	0	rs200480831		C3N-02002_TP	C3N-02002_NB	C	C																c.826G>T	p.Ala276Ser	p.A276S	ENST00000324464	10/15	208	184	24	306	306	0	strelka-varscan-mutect	ADCK4,missense_variant,p.Ala276Ser,ENST00000324464,NM_024876.3;ADCK4,missense_variant,p.Ala235Ser,ENST00000243583,NM_001142555.2;ADCK4,missense_variant,p.Ala167Ser,ENST00000595254,;ADCK4,downstream_gene_variant,,ENST00000601967,;ADCK4,downstream_gene_variant,,ENST00000594084,;ADCK4,downstream_gene_variant,,ENST00000594720,;ADCK4,downstream_gene_variant,,ENST00000600080,;ADCK4,downstream_gene_variant,,ENST00000594490,;ADCK4,3_prime_UTR_variant,,ENST00000599643,;ADCK4,non_coding_transcript_exon_variant,,ENST00000596455,;ADCK4,upstream_gene_variant,,ENST00000593724,;ADCK4,downstream_gene_variant,,ENST00000601451,;ADCK4,downstream_gene_variant,,ENST00000601304,;ADCK4,downstream_gene_variant,,ENST00000593544,;	A	ENST00000324464	Transcript	missense_variant	1128/2443	826/1635	276/544	A/S	Gcc/Tcc	rs200480831	1		-1	ADCK4	HGNC	HGNC:19041	protein_coding	YES	CCDS12562.1	ENSP00000315118	Q96D53		UPI0000071B0F	NM_024876.3	deleterious(0.03)		10/15		Low_complexity_(Seg):seg,hmmpanther:PTHR10566,hmmpanther:PTHR10566:SF22,Pfam_domain:PF03109																	MODERATE	1	SNV	1			1										PASS		rs200480831	.												A	3	1	86	40702667	40702667	C	A	1	0	0	0	0	1	0	0	0	334	739	26	2		2	ADCK4	19	40702667	Missense_Mutation	SNP	C	C3N-02002_TP	4465711	40702667	17914949	43	28375											
TRIM28	0	.	GRCh38	chr19	58548884	58548884	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatccctactcaagtgcAgagccccatgtgtcaggtgt	9	10	11	11	0	2	2	2	1	0	1	3	3	3	2	3	1	3	1	3	1	2	1	novel		C3N-02002_TP	C3N-02002_NB	A	A																c.1383A>G	p.=	p.A461A	ENST00000253024	11/17	289	265	24	377	377	0	strelka-varscan-mutect	TRIM28,splice_acceptor_variant,,ENST00000597136,;TRIM28,synonymous_variant,p.=,ENST00000253024,NM_005762.2;TRIM28,synonymous_variant,p.=,ENST00000341753,;CHMP2A,downstream_gene_variant,,ENST00000600118,;CHMP2A,downstream_gene_variant,,ENST00000312547,NM_014453.3;CHMP2A,downstream_gene_variant,,ENST00000601220,NM_198426.2;TRIM28,downstream_gene_variant,,ENST00000594806,;CHMP2A,downstream_gene_variant,,ENST00000600006,;CHMP2A,downstream_gene_variant,,ENST00000596708,;TRIM28,downstream_gene_variant,,ENST00000593582,;TRIM28,downstream_gene_variant,,ENST00000597968,;MIR6807,upstream_gene_variant,,ENST00000621968,;TRIM28,non_coding_transcript_exon_variant,,ENST00000601150,;TRIM28,non_coding_transcript_exon_variant,,ENST00000597995,;TRIM28,non_coding_transcript_exon_variant,,ENST00000595028,;TRIM28,downstream_gene_variant,,ENST00000597423,;TRIM28,upstream_gene_variant,,ENST00000598355,;TRIM28,upstream_gene_variant,,ENST00000595974,;CHMP2A,downstream_gene_variant,,ENST00000597209,;TRIM28,downstream_gene_variant,,ENST00000597618,;CHMP2A,downstream_gene_variant,,ENST00000600804,;TRIM28,downstream_gene_variant,,ENST00000597172,;TRIM28,upstream_gene_variant,,ENST00000600840,;	G	ENST00000253024	Transcript	synonymous_variant	1672/2960	1383/2508	461/835	A	gcA/gcG		1		1	TRIM28	HGNC	HGNC:16384	protein_coding	YES	CCDS12985.1	ENSP00000253024	Q13263		UPI0000136C15	NM_005762.2			11/17		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF346																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	86	58548884	58548884	A	G	1	0	0	0	0	0	0	0	1	16991	175	7	5		5	TRIM28	19	58548884	Silent	SNP	A	C3N-02002_TP	17846217	58548884	68732	44	28376											
TRPC4AP	0	.	GRCh38	chr20	35054984	35054984	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtacttacacagacacAggtattatacaggatactca	15	9	9	8	0	1	1	1	0	0	1	1	2	1	2	0	4	4	2	0	4	6	6	novel		C3N-02002_TP	C3N-02002_NB	A	A																c.520T>G	p.Cys174Gly	p.C174G	ENST00000252015	5/19	188	173	15	279	279	0	strelka-mutect	TRPC4AP,missense_variant,p.Cys174Gly,ENST00000252015,NM_015638.2;TRPC4AP,missense_variant,p.Cys174Gly,ENST00000451813,NM_199368.1;	C	ENST00000252015	Transcript	missense_variant	610/3226	520/2394	174/797	C/G	Tgt/Ggt		1		-1	TRPC4AP	HGNC	HGNC:16181	protein_coding	YES	CCDS13246.1	ENSP00000252015	Q8TEL6		UPI000004FADD	NM_015638.2	tolerated(0.07)		5/19		hmmpanther:PTHR31743,hmmpanther:PTHR31743:SF1,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	86	35054984	35054984	A	C	1	0	0	0	0	1	0	0	0	17086	188	7	5		5	TRPC4AP	20	35054984	Missense_Mutation	SNP	A	C3N-02002_TP		35054984	29389183	45	28377											
PARD6B	0	.	GRCh38	chr20	50749951	50749951	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggttccagggatctttatAtccaggcttgtcccaggagg	9	11	12	9	0	1	0	0	0	1	0	4	2	4	2	3	5	0	2	3	5	3	5	rs371618647		C3N-02002_TP	C3N-02002_NB	A	A																c.582A>G	p.Ile194Met	p.I194M	ENST00000371610	3/3	307	291	16	408	408	0	strelka-varscan-mutect	PARD6B,missense_variant,p.Ile194Met,ENST00000371610,NM_032521.2;PARD6B,intron_variant,,ENST00000396039,;	G	ENST00000371610	Transcript	missense_variant	825/4615	582/1119	194/372	I/M	atA/atG	rs371618647	1		1	PARD6B	HGNC	HGNC:16245	protein_coding	YES	CCDS33485.1	ENSP00000360672	Q9BYG5		UPI000006FA7C	NM_032521.2	deleterious(0)		3/3		PROSITE_profiles:PS50106,hmmpanther:PTHR14102,hmmpanther:PTHR14102:SF4,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		rs371618647	.												G	3	3	86	50749951	50749951	A	G	1	0	0	0	0	1	0	0	0	11526	439	16	5		5	PARD6B	20	50749951	Missense_Mutation	SNP	A	C3N-02002_TP	15694967	50749951	13694216	46	28378											
CYP24A1	0	.	GRCh38	chr20	54172944	54172944	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccttctttgcggtagtcGcgataggccttccacggttt	5	14	11	11	4	1	0	0	0	1	0	3	1	2	0	3	3	2	2	3	3	3	7	novel		C3N-02002_TP	C3N-02002_NB	G	G																c.414C>A	p.=	p.R138R	ENST00000216862	2/12	284	216	68	373	373	0	strelka-varscan-mutect	CYP24A1,synonymous_variant,p.=,ENST00000216862,NM_000782.4;CYP24A1,synonymous_variant,p.=,ENST00000395955,NM_001128915.1;CYP24A1,upstream_gene_variant,,ENST00000395954,;CYP24A1,non_coding_transcript_exon_variant,,ENST00000472970,;	T	ENST00000216862	Transcript	synonymous_variant	808/3262	414/1545	138/514	R	cgC/cgA		1		-1	CYP24A1	HGNC	HGNC:2602	protein_coding	YES	CCDS33491.1	ENSP00000216862	Q07973		UPI00001281B8	NM_000782.4			2/12		hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF5,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	86	54172944	54172944	G	T	1	0	0	0	0	0	0	0	1	3957	1074	38	1		1	CYP24A1	20	54172944	Silent	SNP	G	C3N-02002_TP	3422993	54172944	10271223	47	28379											
RIPK4	0	.	GRCh38	chr21	41756555	41756555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtgggcatccagcaggatGttcgcgggcttgaggtccag	7	9	16	9	2	0	1	0	1	0	0	3	2	2	2	2	4	1	4	2	4	1	3	novel		C3N-02002_TP	C3N-02002_NB	G	G																c.444C>T	p.=	p.N148N	ENST00000332512	2/8	114	103	11	148	148	0	strelka-varscan-mutect	RIPK4,synonymous_variant,p.=,ENST00000352483,;RIPK4,synonymous_variant,p.=,ENST00000332512,NM_020639.2;	A	ENST00000332512	Transcript	synonymous_variant	509/3889	444/2355	148/784	N	aaC/aaT		1		-1	RIPK4	HGNC	HGNC:496	protein_coding	YES	CCDS13675.1	ENSP00000332454	P57078		UPI000002A3C9	NM_020639.2			2/8		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_patterns:PS00108,PROSITE_profiles:PS50011,hmmpanther:PTHR24198,hmmpanther:PTHR24198:SF65,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	86	41756555	41756555	G	A	1	0	0	0	0	0	0	0	1	13557	1368	48	3		3	RIPK4	21	41756555	Silent	SNP	G	C3N-02002_TP		41756555	4953428	48	28380											
MTOR	0	.	GRCh38	chr1	11129790	11129790	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaggagatggaacggaagaAgccctggacggcaggcaccg	13	2	16	10	3	0	2	0	0	0	2	0	6	0	5	2	6	2	2	2	6	4	0			C3N-02003_TP	C3N-02003_NB	A	A																c.5662T>G	p.Phe1888Val	p.F1888V	ENST00000361445	40/58	308	291	17	251	250	1	strelka-varscan-mutect	MTOR,missense_variant,p.Phe1888Val,ENST00000361445,NM_004958.3;MTOR,missense_variant,p.Phe93Val,ENST00000376838,;MTOR,downstream_gene_variant,,ENST00000495435,;	C	ENST00000361445	Transcript	missense_variant	5739/8677	5662/7650	1888/2549	F/V	Ttc/Gtc	COSM3358967,COSM3358968,COSM893814	1		-1	MTOR	HGNC	HGNC:3942	protein_coding	YES	CCDS127.1	ENSP00000354558	P42345		UPI000012ABD3	NM_004958.3	deleterious(0)		40/58		PROSITE_profiles:PS51189,hmmpanther:PTHR11139:SF9,hmmpanther:PTHR11139,Pfam_domain:PF02259											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												C	3	2	87	11129790	11129790	A	C	1	0	0	0	0	1	0	0	0	9941	72	3	5		5	MTOR	1	11129790	Missense_Mutation	SNP	A	C3N-02003_TP		11129790	237826632	1	28381											
NBPF1	0	.	GRCh38	chr1	16591935	16591935	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactgctgtttgttctcTgccagctgggggcgcaattt	5	14	12	10	1	1	1	0	1	1	0	2	1	1	1	1	2	4	5	1	2	2	3	rs768058060		C3N-02003_TP	C3N-02003_NB	T	T																c.87A>G	p.=	p.A29A	ENST00000430580	7/29	232	219	13	284	284	0	varscan-mutect	NBPF1,synonymous_variant,p.=,ENST00000430580,NM_017940.4;NBPF1,synonymous_variant,p.=,ENST00000432949,;NBPF1,downstream_gene_variant,,ENST00000420513,;NBPF1,synonymous_variant,p.=,ENST00000392963,;	C	ENST00000430580	Transcript	synonymous_variant	975/5932	87/3420	29/1139	A	gcA/gcG	rs768058060	1		-1	NBPF1	HGNC	HGNC:26088	protein_coding	YES		ENSP00000474456		S4R3K2	UPI0000E04FDF	NM_017940.4			7/29																			LOW	1	SNV	5			1										PASS		rs768058060	.												C	2	2	87	16591935	16591935	T	C	1	0	0	0	0	0	0	0	1	10203	1567	55	5		5	NBPF1	1	16591935	Silent	SNP	T	C3N-02003_TP	5462145	16591935	232364487	2	28382											
CROCC	0	.	GRCh38	chr1	16924426	16924426	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggacctgctggcccagAgccgtgccgagcgcgatgag	7	5	17	12	4	0	2	0	1	0	1	0	6	0	4	4	3	4	1	4	3	0	0	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.298A>G	p.Ser100Gly	p.S100G	ENST00000375541	3/37	275	259	16	283	283	0	strelka-varscan-mutect	CROCC,missense_variant,p.Ser100Gly,ENST00000375541,NM_014675.4;CROCC,missense_variant,p.Ser50Gly,ENST00000445545,;CROCC,intron_variant,,ENST00000467938,;CROCC,intron_variant,,ENST00000466256,;	G	ENST00000375541	Transcript	missense_variant	367/6656	298/6054	100/2017	S/G	Agc/Ggc		1		1	CROCC	HGNC	HGNC:21299	protein_coding	YES	CCDS30616.1	ENSP00000364691	Q5TZA2		UPI000042B0BB	NM_014675.4	deleterious(0)		3/37		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF17																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	87	16924426	16924426	A	G	1	0	0	0	0	1	0	0	0	3694	304	11	5		5	CROCC	1	16924426	Missense_Mutation	SNP	A	C3N-02003_TP	332491	16924426	232031996	3	28383											
UBR4	0	.	GRCh38	chr1	19088814	19088814	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgccatggccatgcgcttcTtctctgcccgggtctccctg	2	13	10	16	2	3	0	0	0	3	0	5	0	3	0	4	2	3	1	4	2	0	3	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.14375A>C	p.Lys4792Thr	p.K4792T	ENST00000375254	98/106	390	337	53	350	350	0	strelka-varscan-mutect	UBR4,missense_variant,p.Lys4792Thr,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Lys499Thr,ENST00000375224,;UBR4,downstream_gene_variant,,ENST00000467272,;UBR4,downstream_gene_variant,,ENST00000492606,;	G	ENST00000375254	Transcript	missense_variant	14403/15906	14375/15552	4792/5183	K/T	aAg/aCg		1		-1	UBR4	HGNC	HGNC:30313	protein_coding	YES	CCDS189.1	ENSP00000364403	Q5T4S7		UPI000021276F	NM_020765.2	deleterious(0)		98/106		Low_complexity_(Seg):seg,hmmpanther:PTHR21725,Pfam_domain:PF13764																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	19088814	19088814	T	G	1	0	0	0	0	1	0	0	0	17428	1609	56	5		5	UBR4	1	19088814	Missense_Mutation	SNP	T	C3N-02003_TP	2164388	19088814	229867608	4	28384											
KDM1A	0	.	GRCh38	chr1	23072163	23072163	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacaaggaaagctagaaGaaaaacttcaggagttggaa	21	5	10	5	0	1	2	1	0	0	2	1	5	1	5	0	3	3	2	0	3	8	3	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1588G>T	p.Glu530Ter	p.E530*	ENST00000400181	14/21	131	120	11	269	269	0	strelka-varscan-mutect	KDM1A,stop_gained,p.Glu530Ter,ENST00000400181,NM_001009999.2;KDM1A,stop_gained,p.Glu506Ter,ENST00000356634,NM_015013.3;KDM1A,stop_gained,p.Glu14Ter,ENST00000465864,;RP1-184J9.2,intron_variant,,ENST00000427154,;	T	ENST00000400181	Transcript	stop_gained	1692/3059	1588/2631	530/876	E/*	Gaa/Taa		1		1	KDM1A	HGNC	HGNC:29079	protein_coding	YES	CCDS53278.1	ENSP00000383042	O60341		UPI0000403137	NM_001009999.2			14/21		Gene3D:1.10.287.80,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01593,PIRSF_domain:PIRSF038051,Low_complexity_(Seg):seg,Superfamily_domains:SSF51905																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	87	23072163	23072163	G	T	1	0	0	0	0	0	1	0	0	8040	943	33	2		2	KDM1A	1	23072163	Nonsense_Mutation	SNP	G	C3N-02003_TP	3983349	23072163	225884259	5	28385											
CSMD2	0	.	GRCh38	chr1	33700635	33700635	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcagaatggctaaaaacTcccagcaaacgggcggagtt	14	7	10	10	2	1	1	1	0	1	1	3	2	2	2	1	3	3	3	1	3	5	2	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.3615A>G	p.=	p.G1205G	ENST00000373381	23/71	216	202	14	246	246	0	strelka-varscan-mutect	CSMD2,synonymous_variant,p.=,ENST00000373381,NM_001281956.1;CSMD2,synonymous_variant,p.=,ENST00000619121,;CSMD2,synonymous_variant,p.=,ENST00000373388,NM_052896.4;CSMD2,synonymous_variant,p.=,ENST00000373380,;CSMD2,synonymous_variant,p.=,ENST00000241312,;	C	ENST00000373381	Transcript	synonymous_variant	3792/13698	3615/10896	1205/3631	G	ggA/ggG		1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1			23/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	87	33700635	33700635	T	C	1	0	0	0	0	0	0	0	1	3746	1538	54	5		5	CSMD2	1	33700635	Silent	SNP	T	C3N-02003_TP	10628472	33700635	215255787	6	28386											
GJB5	0	.	GRCh38	chr1	34757417	34757417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctggctgtctctggtcttCatcttccgcgtgctggtgta	3	16	11	11	2	5	0	1	0	4	0	7	0	6	0	1	3	1	3	1	3	1	3	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.87C>T	p.=	p.F29F	ENST00000338513	2/2	267	236	31	213	212	1	strelka-varscan-mutect	GJB5,synonymous_variant,p.=,ENST00000338513,NM_005268.3;GJB4,upstream_gene_variant,,ENST00000339480,NM_153212.2;RP1-34M23.5,downstream_gene_variant,,ENST00000542839,;SMIM12,intron_variant,,ENST00000426886,;	T	ENST00000338513	Transcript	synonymous_variant	260/1355	87/822	29/273	F	ttC/ttT		1		1	GJB5	HGNC	HGNC:4287	protein_coding	YES	CCDS382.1	ENSP00000340811	O95377		UPI0000051E62	NM_005268.3			2/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF29,Pfam_domain:PF00029,Gene3D:2zw3A00,Prints_domain:PR00206																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	87	34757417	34757417	C	T	1	0	0	0	0	0	0	0	1	6288	825	29	3		3	GJB5	1	34757417	Silent	SNP	C	C3N-02003_TP	1056782	34757417	214199005	7	28387											
INPP5B	0	.	GRCh38	chr1	37886891	37886891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accaaccaaggactcaccatCctccccatgattcctgtccc	10	8	4	19	0	1	1	1	1	0	0	5	2	5	2	8	1	1	0	8	1	2	1	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1128G>A	p.=	p.R376R	ENST00000373024	12/24	165	155	10	129	129	0	strelka-mutect	INPP5B,synonymous_variant,p.=,ENST00000373023,;INPP5B,synonymous_variant,p.=,ENST00000458109,;INPP5B,synonymous_variant,p.=,ENST00000373027,NM_001297434.1;INPP5B,synonymous_variant,p.=,ENST00000373026,;INPP5B,synonymous_variant,p.=,ENST00000373024,NM_005540.2;RNU6-584P,downstream_gene_variant,,ENST00000410350,;SNORA63,downstream_gene_variant,,ENST00000516639,;INPP5B,non_coding_transcript_exon_variant,,ENST00000467066,;	T	ENST00000373024	Transcript	synonymous_variant	1216/3060	1128/2742	376/913	R	agG/agA		1		-1	INPP5B	HGNC	HGNC:6077	protein_coding	YES	CCDS41306.1	ENSP00000362115	P32019		UPI0000458AD7	NM_005540.2			12/24		hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF163,Pfam_domain:PF03372,Gene3D:3.60.10.10,SMART_domains:SM00128,Superfamily_domains:SSF56219																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	87	37886891	37886891	C	T	1	0	0	0	0	0	0	0	1	7658	869	30	3		3	INPP5B	1	37886891	Silent	SNP	C	C3N-02003_TP	3129474	37886891	211069531	8	28388											
FAF1	0	.	GRCh38	chr1	50490618	50490618	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcttgttctttgcgaatCtgctccaaacgaaactgttc	8	16	6	11	2	4	0	0	0	4	0	6	2	5	0	1	0	4	3	1	0	3	5	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1623G>A	p.=	p.Q541Q	ENST00000396153	17/19	226	204	22	272	272	0	strelka-varscan-mutect	FAF1,synonymous_variant,p.=,ENST00000396153,NM_007051.2;FAF1,synonymous_variant,p.=,ENST00000371778,;FAF1,synonymous_variant,p.=,ENST00000494400,;	T	ENST00000396153	Transcript	synonymous_variant	2075/6817	1623/1953	541/650	Q	caG/caA		1		-1	FAF1	HGNC	HGNC:3578	protein_coding	YES	CCDS554.1	ENSP00000379457	Q9UNN5		UPI0000032C67	NM_007051.2			17/19		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23322,hmmpanther:PTHR23322:SF29,Low_complexity_(Seg):seg,Superfamily_domains:SSF54236																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	87	50490618	50490618	C	T	1	0	0	0	0	0	0	0	1	5241	912	32	3		3	FAF1	1	50490618	Silent	SNP	C	C3N-02003_TP	12603727	50490618	198465804	9	28389											
CDCP2	0	.	GRCh38	chr1	54139677	54139677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacaaactggtgggatggagGaaggagactgcaaagactga	15	5	16	5	0	0	3	0	1	0	2	0	8	0	6	0	5	2	1	0	5	3	0			C3N-02003_TP	C3N-02003_NB	G	G																c.1193C>T	p.Ser398Phe	p.S398F	ENST00000371330	4/4	195	179	16	174	174	0	strelka-varscan-mutect	CDCP2,missense_variant,p.Ser398Phe,ENST00000371330,NM_201546.3;CDCP2,intron_variant,,ENST00000530059,;RP11-446E24.3,non_coding_transcript_exon_variant,,ENST00000623663,;RP11-446E24.4,downstream_gene_variant,,ENST00000525949,;RP11-446E24.4,intron_variant,,ENST00000637610,;RP11-446E24.4,downstream_gene_variant,,ENST00000311841,;	A	ENST00000371330	Transcript	missense_variant	2041/2723	1193/1350	398/449	S/F	tCc/tTc	COSM4461132	1		-1	CDCP2	HGNC	HGNC:27297	protein_coding	YES	CCDS588.2	ENSP00000360381	Q5VXM1		UPI0000458963	NM_201546.3	deleterious_low_confidence(0.01)		4/4		Low_complexity_(Seg):seg											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	87	54139677	54139677	G	A	1	0	0	0	0	1	0	0	0	2797	1174	41	3		3	CDCP2	1	54139677	Missense_Mutation	SNP	G	C3N-02003_TP	3649059	54139677	194816745	10	28390											
DNAJC6	0	.	GRCh38	chr1	65386916	65386916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcaaccattgggagccGgctacaggctaaggtatggt	10	8	15	8	1	1	0	1	0	0	0	1	2	1	1	2	6	3	3	2	6	4	4	rs756818465		C3N-02003_TP	C3N-02003_NB	G	G																c.1100G>T	p.Arg367Leu	p.R367L	ENST00000371069	8/19	150	129	21	164	164	0	strelka-varscan-mutect	DNAJC6,missense_variant,p.Arg297Leu,ENST00000263441,NM_001256865.1;DNAJC6,missense_variant,p.Arg310Leu,ENST00000395325,NM_014787.3;DNAJC6,missense_variant,p.Arg367Leu,ENST00000371069,NM_001256864.1;DNAJC6,missense_variant,p.Arg341Leu,ENST00000494710,;DNAJC6,non_coding_transcript_exon_variant,,ENST00000498720,;	T	ENST00000371069	Transcript	missense_variant	1301/5365	1100/2913	367/970	R/L	cGg/cTg	rs756818465	1		1	DNAJC6	HGNC	HGNC:15469	protein_coding	YES	CCDS58004.1	ENSP00000360108	O75061		UPI000022AE8A	NM_001256864.1	deleterious(0)		8/19		PROSITE_profiles:PS51182,hmmpanther:PTHR23172:SF4,hmmpanther:PTHR23172,Pfam_domain:PF10409,Gene3D:1d5rA02,SMART_domains:SM01326,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		rs756818465	.												T	3	4	87	65386916	65386916	G	T	1	0	0	0	0	1	0	0	0	4466	1116	39	1		1	DNAJC6	1	65386916	Missense_Mutation	SNP	G	C3N-02003_TP	11247239	65386916	183569506	11	28391											
DPYD	0	.	GRCh38	chr1	97573964	97573964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacttttcttccttagcaaGttccatctaaaacaaaacag	15	12	3	11	0	2	0	0	0	2	0	4	0	4	0	2	0	3	2	2	0	6	6	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1135C>A	p.Leu379Ile	p.L379I	ENST00000370192	11/23	220	207	13	380	380	0	strelka-varscan-mutect	DPYD,missense_variant,p.Leu379Ile,ENST00000370192,NM_000110.3;	T	ENST00000370192	Transcript	missense_variant	1236/4412	1135/3078	379/1025	L/I	Ctt/Att		1		-1	DPYD	HGNC	HGNC:3012	protein_coding	YES	CCDS30777.1	ENSP00000359211	Q12882		UPI00000727C7	NM_000110.3	tolerated(0.2)		11/23		Low_complexity_(Seg):seg,hmmpanther:PTHR11938,hmmpanther:PTHR11938:SF5,Gene3D:3.50.50.60,Pfam_domain:PF07992,Superfamily_domains:SSF51971																	MODERATE	1	SNV	1			1										PASS		rs1463235938	.												T	3	4	87	97573964	97573964	G	T	1	0	0	0	0	1	0	0	0	4560	1029	36	2		2	DPYD	1	97573964	Missense_Mutation	SNP	G	C3N-02003_TP	32187048	97573964	151382458	12	28392											
CHIA	0	.	GRCh38	chr1	111318539	111318539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatggagcaccagctgagaAgctcatcgttggattcccta	11	9	10	11	1	1	1	1	1	0	1	3	4	2	3	2	2	3	4	2	2	3	3	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.776A>G	p.Lys259Arg	p.K259R	ENST00000369740	9/12	110	101	9	107	106	1	strelka-varscan-mutect	CHIA,missense_variant,p.Lys259Arg,ENST00000369740,NM_201653.3;CHIA,missense_variant,p.Lys259Arg,ENST00000343320,;CHIA,missense_variant,p.Lys203Arg,ENST00000422815,;CHIA,missense_variant,p.Lys151Arg,ENST00000430615,NM_001258003.1,NM_021797.3,NM_001258001.1;CHIA,missense_variant,p.Lys98Arg,ENST00000451398,NM_001040623.2;CHIA,missense_variant,p.Lys98Arg,ENST00000353665,NM_001258004.1,NM_001258005.1;CHIA,missense_variant,p.Lys98Arg,ENST00000483391,NM_001258002.1;CHIA,missense_variant,p.Lys98Arg,ENST00000489524,;RP5-1125M8.2,intron_variant,,ENST00000426321,;CHIA,3_prime_UTR_variant,,ENST00000352594,;CHIA,non_coding_transcript_exon_variant,,ENST00000477918,;	G	ENST00000369740	Transcript	missense_variant	879/1625	776/1431	259/476	K/R	aAg/aGg		1		1	CHIA	HGNC	HGNC:17432	protein_coding	YES	CCDS41368.1	ENSP00000358755	Q9BZP6		UPI00000727DC	NM_201653.3	deleterious(0.01)		9/12		Gene3D:3.20.20.80,Pfam_domain:PF00704,hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF188,SMART_domains:SM00636,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	111318539	111318539	A	G	1	0	0	0	0	1	0	0	0	3101	72	3	5		5	CHIA	1	111318539	Missense_Mutation	SNP	A	C3N-02003_TP	13744575	111318539	137637883	13	28393											
VTCN1	0	.	GRCh38	chr1	117153263	117153263	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttggctccctggtcaacTtgggatgcccagaccactgt	8	10	11	12	0	1	1	1	0	0	1	2	2	2	2	3	3	2	2	3	3	2	2	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.552A>C	p.Gln184His	p.Q184H	ENST00000369458	4/6	191	178	13	198	198	0	strelka-varscan-mutect	VTCN1,missense_variant,p.Gln89His,ENST00000539893,NM_001253849.1;VTCN1,missense_variant,p.Gln184His,ENST00000369458,NM_024626.3;VTCN1,missense_variant,p.Gln187His,ENST00000359008,;VTCN1,missense_variant,p.Gln68His,ENST00000328189,NM_001253850.1;VTCN1,downstream_gene_variant,,ENST00000430871,;VTCN1,non_coding_transcript_exon_variant,,ENST00000463461,;VTCN1,downstream_gene_variant,,ENST00000488493,;	G	ENST00000369458	Transcript	missense_variant	631/2612	552/849	184/282	Q/H	caA/caC		1		-1	VTCN1	HGNC	HGNC:28873	protein_coding	YES	CCDS894.1	ENSP00000358470	Q7Z7D3		UPI00000389E3	NM_024626.3	tolerated(0.5)		4/6		PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF0,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	117153263	117153263	T	G	1	0	0	0	0	1	0	0	0	17788	1606	56	5		5	VTCN1	1	117153263	Missense_Mutation	SNP	T	C3N-02003_TP	5834724	117153263	131803159	14	28394											
SPAG17	0	.	GRCh38	chr1	117992613	117992613	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaatgcaaaggcctttccaAatctgagtaccaaacggagg	14	8	9	10	1	2	1	1	1	1	0	3	2	3	2	3	3	3	2	3	3	5	2	rs370423067		C3N-02003_TP	C3N-02003_NB	A	A																c.5214T>G	p.Ile1738Met	p.I1738M	ENST00000336338	36/49	129	120	9	128	128	0	strelka-varscan-mutect	SPAG17,missense_variant,p.Ile1738Met,ENST00000336338,NM_206996.2;SPAG17,missense_variant,p.Ile218Met,ENST00000437255,;SPAG17,upstream_gene_variant,,ENST00000483383,;	C	ENST00000336338	Transcript	missense_variant	5280/6924	5214/6672	1738/2223	I/M	atT/atG	rs370423067	1		-1	SPAG17	HGNC	HGNC:26620	protein_coding	YES	CCDS899.1	ENSP00000337804	Q6Q759		UPI00001601FD	NM_206996.2	tolerated(0.06)		36/49		hmmpanther:PTHR21963																	MODERATE	1	SNV	1			1										PASS		rs370423067	.												C	3	2	87	117992613	117992613	A	C	1	0	0	0	0	1	0	0	0	15310	10	1	5		5	SPAG17	1	117992613	Missense_Mutation	SNP	A	C3N-02003_TP	839350	117992613	130963809	15	28395											
SPAG17	0	.	GRCh38	chr1	118005471	118005471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataacctctgaagtatgcctCatgatgtacctgccagctcg	10	11	8	12	1	2	2	1	2	1	0	3	2	2	2	4	0	5	3	4	0	4	3	rs749203278		C3N-02003_TP	C3N-02003_NB	C	C																c.4719G>A	p.Met1573Ile	p.M1573I	ENST00000336338	32/49	148	133	15	139	139	0	strelka-mutect	SPAG17,missense_variant,p.Met1573Ile,ENST00000336338,NM_206996.2;SPAG17,missense_variant,p.Met53Ile,ENST00000437255,;	T	ENST00000336338	Transcript	missense_variant	4785/6924	4719/6672	1573/2223	M/I	atG/atA	rs749203278	1		-1	SPAG17	HGNC	HGNC:26620	protein_coding	YES	CCDS899.1	ENSP00000337804	Q6Q759		UPI00001601FD	NM_206996.2	deleterious(0)		32/49		hmmpanther:PTHR21963																	MODERATE	1	SNV	1			1										PASS		rs749203278	.												T	3	4	87	118005471	118005471	C	T	1	0	0	0	0	1	0	0	0	15310	826	29	3		3	SPAG17	1	118005471	Missense_Mutation	SNP	C	C3N-02003_TP	12858	118005471	130950951	16	28396											
HAO2	0	.	GRCh38	chr1	119383042	119383042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccactgccttgtctggcctGatggggaaatgagcacagca	9	9	12	11	0	1	2	0	2	1	0	2	3	2	3	3	3	3	2	3	3	1	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.298G>A	p.Asp100Asn	p.D100N	ENST00000361035	4/9	160	143	17	117	117	0	strelka-varscan-mutect	HAO2,missense_variant,p.Asp87Asn,ENST00000622548,;HAO2,missense_variant,p.Asp100Asn,ENST00000361035,NM_001005783.2;HAO2,missense_variant,p.Asp87Asn,ENST00000325945,NM_016527.3;HAO2,missense_variant,p.Asp87Asn,ENST00000457318,;	A	ENST00000361035	Transcript	missense_variant	581/1668	298/1095	100/364	D/N	Gat/Aat		1		1	HAO2	HGNC	HGNC:4810	protein_coding	YES	CCDS76196.1	ENSP00000354314	Q9NYQ3		UPI0000470C15	NM_001005783.2	deleterious(0)		4/9		PROSITE_profiles:PS51349,hmmpanther:PTHR10578,hmmpanther:PTHR10578:SF68,Pfam_domain:PF01070,PIRSF_domain:PIRSF000138,Gene3D:3.20.20.70,Superfamily_domains:SSF51395																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	119383042	119383042	G	A	1	0	0	0	0	1	0	0	0	6838	1290	45	3		3	HAO2	1	119383042	Missense_Mutation	SNP	G	C3N-02003_TP	1377571	119383042	129573380	17	28397											
RPRD2	0	.	GRCh38	chr1	150471721	150471721	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagggaatgaacctgggTctgaccggtcaccatcaccg	11	7	12	11	2	3	3	2	2	1	1	3	4	3	4	4	3	1	0	4	3	3	1	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.2773T>A	p.Ser925Thr	p.S925T	ENST00000369068	11/11	289	269	20	256	256	0	strelka-varscan-mutect	RPRD2,missense_variant,p.Ser899Thr,ENST00000401000,NM_001297674.1,NM_001297673.1;RPRD2,missense_variant,p.Ser925Thr,ENST00000369068,NM_015203.4;RPRD2,non_coding_transcript_exon_variant,,ENST00000492220,;	A	ENST00000369068	Transcript	missense_variant	2777/4612	2773/4386	925/1461	S/T	Tct/Act		1		1	RPRD2	HGNC	HGNC:29039	protein_coding	YES	CCDS44216.1	ENSP00000358064	Q5VT52		UPI00001D7CA8	NM_015203.4	tolerated_low_confidence(0.07)		11/11		hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	150471721	150471721	T	A	1	0	0	0	0	1	0	0	0	13871	1667	58	4		4	RPRD2	1	150471721	Missense_Mutation	SNP	T	C3N-02003_TP	31088679	150471721	98484701	18	28398											
ARNT	0	.	GRCh38	chr1	150816295	150816295	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcgggtagtaggggtccaAgttggggttgctccttgggt	5	11	19	6	1	0	0	0	0	0	0	2	1	2	0	2	6	2	5	2	6	3	5	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.1914T>G	p.=	p.T638T	ENST00000358595	19/22	200	183	17	202	202	0	strelka-varscan-mutect	ARNT,synonymous_variant,p.=,ENST00000358595,NM_001668.3;ARNT,synonymous_variant,p.=,ENST00000354396,NM_001286036.1;ARNT,synonymous_variant,p.=,ENST00000515192,NM_001286035.1;ARNT,synonymous_variant,p.=,ENST00000505755,NM_178427.2,NM_001197325.1;RNU6-1309P,upstream_gene_variant,,ENST00000363305,;ARNT,intron_variant,,ENST00000471844,;ARNT,downstream_gene_variant,,ENST00000510273,;	C	ENST00000358595	Transcript	synonymous_variant	2115/4887	1914/2370	638/789	T	acT/acG		1		-1	ARNT	HGNC	HGNC:700	protein_coding	YES	CCDS970.1	ENSP00000351407	P27540		UPI0000030984	NM_001668.3			19/22		Low_complexity_(Seg):seg,hmmpanther:PTHR23042:SF50,hmmpanther:PTHR23042,Superfamily_domains:SSF88633																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	87	150816295	150816295	A	C	1	0	0	0	0	0	0	0	1	1107	59	3	5		5	ARNT	1	150816295	Silent	SNP	A	C3N-02003_TP	344574	150816295	98140127	19	28399											
PI4KB	0	.	GRCh38	chr1	151292994	151292994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaacctctctttgaggtttCgaatggtgctggagccatgg	7	12	14	8	1	1	1	0	1	1	0	3	4	1	3	2	5	3	2	2	5	2	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.2345G>A	p.Arg782Gln	p.R782Q	ENST00000368875	13/13	183	167	16	123	123	0	strelka-varscan-mutect	PI4KB,missense_variant,p.Arg782Gln,ENST00000368875,NM_002651.2;PI4KB,missense_variant,p.Arg755Gln,ENST00000368874,NM_001198774.1;PI4KB,missense_variant,p.Arg770Gln,ENST00000368873,;PI4KB,missense_variant,p.Arg755Gln,ENST00000368872,NM_001198773.1;PI4KB,missense_variant,p.Arg438Gln,ENST00000529142,NM_001198775.1;PI4KB,missense_variant,p.Arg181Gln,ENST00000455060,;PI4KB,missense_variant,p.Glu66Lys,ENST00000446339,;ZNF687,downstream_gene_variant,,ENST00000324048,NM_001304763.1;ZNF687,downstream_gene_variant,,ENST00000336715,NM_001304764.1,NM_020832.2;ZNF687,downstream_gene_variant,,ENST00000426871,;PI4KB,downstream_gene_variant,,ENST00000489889,;ZNF687,downstream_gene_variant,,ENST00000436614,;ZNF687,downstream_gene_variant,,ENST00000449313,;ZNF687,downstream_gene_variant,,ENST00000459919,;	T	ENST00000368875	Transcript	missense_variant	2926/3983	2345/2487	782/828	R/Q	cGa/cAa		1		-1	PI4KB	HGNC	HGNC:8984	protein_coding	YES	CCDS993.1	ENSP00000357869		A0A0B4J1S8	UPI000007161F	NM_002651.2	tolerated(0.3)		13/13		PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF22,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	87	151292994	151292994	C	T	1	0	0	0	0	1	0	0	0	11963	884	31	1		1	PI4KB	1	151292994	Missense_Mutation	SNP	C	C3N-02003_TP	476699	151292994	97663428	20	28400											
FLG	0	.	GRCh38	chr1	152304436	152304436	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgagtttgtctgctggcacTtctggatcctgactgcccac	6	12	10	13	1	2	1	0	1	2	0	3	3	3	2	2	2	2	3	2	2	0	2			C3N-02003_TP	C3N-02003_NB	T	T																c.10450A>C	p.Ser3484Arg	p.S3484R	ENST00000368799	3/3	475	434	41	476	476	0	varscan-mutect	FLG,missense_variant,p.Ser3484Arg,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	G	ENST00000368799	Transcript	missense_variant	10486/12747	10450/12186	3484/4061	S/R	Agt/Cgt	COSM4127570	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	deleterious(0.02)		3/3		Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		rs1205756804	.												G	3	3	87	152304436	152304436	T	G	1	0	0	0	0	1	0	0	0	5784	1609	56	5		5	FLG	1	152304436	Missense_Mutation	SNP	T	C3N-02003_TP	1011442	152304436	96651986	21	28401											
TMEM79	0	.	GRCh38	chr1	156286432	156286432	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctgccccaggataccctCaaactgctccctctgctcac	8	9	5	19	0	3	0	2	0	1	0	4	1	4	1	5	1	6	2	5	1	3	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.930C>T	p.=	p.L310L	ENST00000405535	3/4	338	305	33	338	338	0	strelka-varscan-mutect	TMEM79,stop_gained,p.Gln72Ter,ENST00000357501,;TMEM79,stop_gained,p.Gln72Ter,ENST00000456810,;TMEM79,synonymous_variant,p.=,ENST00000405535,NM_032323.2;TMEM79,synonymous_variant,p.=,ENST00000295694,;SMG5,upstream_gene_variant,,ENST00000361813,NM_001323617.1,NM_001323616.1,NM_015327.2;TMEM79,non_coding_transcript_exon_variant,,ENST00000495881,;TMEM79,non_coding_transcript_exon_variant,,ENST00000463670,;TMEM79,non_coding_transcript_exon_variant,,ENST00000485135,;GLMP,downstream_gene_variant,,ENST00000497831,;GLMP,downstream_gene_variant,,ENST00000480968,;GLMP,downstream_gene_variant,,ENST00000472870,;GLMP,downstream_gene_variant,,ENST00000461597,;	T	ENST00000405535	Transcript	synonymous_variant	1101/2201	930/1185	310/394	L	ctC/ctT		1		1	TMEM79	HGNC	HGNC:28196	protein_coding	YES	CCDS1138.1	ENSP00000384748	Q9BSE2		UPI000006F977	NM_032323.2			3/4		Gene3D:1.20.120.550,hmmpanther:PTHR31004,hmmpanther:PTHR31004:SF1,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	87	156286432	156286432	C	T	1	0	0	0	0	0	0	0	1	16680	827	29	3		3	TMEM79	1	156286432	Silent	SNP	C	C3N-02003_TP	3981996	156286432	92669990	22	28402											
NES	0	.	GRCh38	chr1	156671932	156671932	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaagagttctcaatgtctcTtggtcctgttcttctaaaga	9	16	7	9	0	5	2	2	0	4	2	8	2	6	2	1	1	0	2	1	1	4	5	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.2256A>C	p.Gln752His	p.Q752H	ENST00000368223	4/4	192	182	10	305	305	0	strelka-varscan	NES,missense_variant,p.Gln752His,ENST00000368223,NM_006617.1;	G	ENST00000368223	Transcript	missense_variant	2389/5558	2256/4866	752/1621	Q/H	caA/caC		1		-1	NES	HGNC	HGNC:7756	protein_coding	YES	CCDS1151.1	ENSP00000357206	P48681		UPI0000213DC0	NM_006617.1	deleterious(0)		4/4		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	156671932	156671932	T	G	1	0	0	0	0	1	0	0	0	10372	1606	56	5		5	NES	1	156671932	Missense_Mutation	SNP	T	C3N-02003_TP	385500	156671932	92284490	23	28403											
RRNAD1	0	.	GRCh38	chr1	156736724	156736724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgcccctgggtcaggctCtttctgttctggagactgaa	7	12	12	10	0	4	3	1	1	3	2	4	4	4	3	2	3	1	2	2	3	1	2	rs374747953		C3N-02003_TP	C3N-02003_NB	C	C																c.1399C>G	p.Leu467Val	p.L467V	ENST00000368216	8/8	226	211	15	136	136	0	strelka-varscan-mutect	RRNAD1,missense_variant,p.Leu467Val,ENST00000368216,NM_015997.3;RRNAD1,3_prime_UTR_variant,,ENST00000368218,NM_001142560.1;RRNAD1,3_prime_UTR_variant,,ENST00000476229,;RRNAD1,downstream_gene_variant,,ENST00000519086,;MRPL24,downstream_gene_variant,,ENST00000434558,;MRPL24,downstream_gene_variant,,ENST00000361531,;MRPL24,downstream_gene_variant,,ENST00000368211,NM_145729.2,NM_024540.3;RRNAD1,downstream_gene_variant,,ENST00000484742,;MRPL24,downstream_gene_variant,,ENST00000412846,;RRNAD1,downstream_gene_variant,,ENST00000524343,;MRPL24,downstream_gene_variant,,ENST00000420938,;RRNAD1,downstream_gene_variant,,ENST00000522237,;RRNAD1,non_coding_transcript_exon_variant,,ENST00000481920,;RRNAD1,non_coding_transcript_exon_variant,,ENST00000497515,;MRPL24,downstream_gene_variant,,ENST00000478899,;RRNAD1,downstream_gene_variant,,ENST00000462397,;RRNAD1,downstream_gene_variant,,ENST00000517871,;	G	ENST00000368216	Transcript	missense_variant	2029/2254	1399/1428	467/475	L/V	Ctt/Gtt	rs374747953	1		1	RRNAD1	HGNC	HGNC:24273	protein_coding	YES	CCDS1154.1	ENSP00000357199	Q96FB5		UPI000013D8E3	NM_015997.3	tolerated_low_confidence(0.06)		8/8		hmmpanther:PTHR12496,hmmpanther:PTHR12496:SF2																	MODERATE	1	SNV	1			1										PASS		rs374747953	.												G	3	3	87	156736724	156736724	C	G	1	0	0	0	0	1	0	0	0	13939	913	32	4		4	RRNAD1	1	156736724	Missense_Mutation	SNP	C	C3N-02003_TP	64792	156736724	92219698	24	28404											
SPTA1	0	.	GRCh38	chr1	158626895	158626895	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctgaaaggcataatcgTcttccaattgcaacttccaa	13	12	5	11	1	1	1	0	1	1	0	5	1	4	1	3	1	2	2	3	1	5	5	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.5777A>G	p.Asp1926Gly	p.D1926G	ENST00000368147	41/52	216	195	21	351	351	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Asp1926Gly,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000461624,;	C	ENST00000368147	Transcript	missense_variant	5958/7999	5777/7260	1926/2419	D/G	gAc/gGc		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0)		41/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	158626895	158626895	T	C	1	0	0	0	0	1	0	0	0	15472	1667	58	5		5	SPTA1	1	158626895	Missense_Mutation	SNP	T	C3N-02003_TP	1890171	158626895	90329527	25	28405											
OR6N1	0	.	GRCh38	chr1	158766333	158766333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatacctatcgtaggccataGctgtcaggagatagcactca	13	9	9	10	1	2	1	2	0	0	1	3	2	2	1	2	2	3	3	2	2	6	5	rs756922659		C3N-02003_TP	C3N-02003_NB	G	G																c.350C>T	p.Ala117Val	p.A117V	ENST00000335094	1/1	185	169	16	132	132	0	strelka-varscan-mutect	OR6N1,missense_variant,p.Ala117Val,ENST00000335094,NM_001005185.1;	A	ENST00000335094	Transcript	missense_variant	350/939	350/939	117/312	A/V	gCt/gTt	rs756922659	1		-1	OR6N1	HGNC	HGNC:15034	protein_coding	YES	CCDS30905.1	ENSP00000335535	Q8NGY5		UPI000003FE15	NM_001005185.1	tolerated(0.51)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF123,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		rs1488715776	.												A	3	1	87	158766333	158766333	G	A	1	0	0	0	0	1	0	0	0	11275	971	34	3		3	OR6N1	1	158766333	Missense_Mutation	SNP	G	C3N-02003_TP	139438	158766333	90190089	26	28406											
ARHGAP30	0	.	GRCh38	chr1	161048915	161048915	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcccttctctcaatctgacTtttgtctcttggcttccccc	3	17	4	17	0	4	1	1	1	3	0	8	1	6	1	3	1	0	1	3	1	1	5	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.2106A>C	p.Lys702Asn	p.K702N	ENST00000368013	12/12	286	266	20	269	268	1	strelka-varscan-mutect	ARHGAP30,missense_variant,p.Lys702Asn,ENST00000368013,NM_001287600.1,NM_001025598.1;ARHGAP30,missense_variant,p.Lys525Asn,ENST00000368015,NM_001287602.1;ARHGAP30,intron_variant,,ENST00000368016,NM_181720.2;USF1,upstream_gene_variant,,ENST00000368021,NM_007122.4,NM_207005.2;USF1,upstream_gene_variant,,ENST00000368020,NM_001276373.1;USF1,upstream_gene_variant,,ENST00000534633,;ARHGAP30,3_prime_UTR_variant,,ENST00000490279,;ARHGAP30,non_coding_transcript_exon_variant,,ENST00000461003,;USF1,upstream_gene_variant,,ENST00000473969,;USF1,upstream_gene_variant,,ENST00000496363,;USF1,upstream_gene_variant,,ENST00000491629,;USF1,upstream_gene_variant,,ENST00000529476,;ARHGAP30,downstream_gene_variant,,ENST00000368018,;	G	ENST00000368013	Transcript	missense_variant	2427/4394	2106/3306	702/1101	K/N	aaA/aaC		1		-1	ARHGAP30	HGNC	HGNC:27414	protein_coding	YES	CCDS30918.1	ENSP00000356992	Q7Z6I6		UPI0000160677	NM_001287600.1,NM_001025598.1	deleterious_low_confidence(0.01)		12/12		hmmpanther:PTHR15729:SF12,hmmpanther:PTHR15729																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	87	161048915	161048915	T	G	1	0	0	0	0	1	0	0	0	1004	1606	56	5		5	ARHGAP30	1	161048915	Missense_Mutation	SNP	T	C3N-02003_TP	2282582	161048915	87907507	27	28407											
RXRG	0	.	GRCh38	chr1	165419889	165419889	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgaggatctgtctccacaGatggcacagatgtgtttaac	10	11	10	10	0	2	3	0	1	2	2	3	4	2	4	2	2	1	2	2	2	1	2	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.423C>T	p.=	p.I141I	ENST00000359842	3/10	93	84	9	103	103	0	strelka-varscan-mutect	RXRG,synonymous_variant,p.=,ENST00000619224,NM_001256570.1,NM_001256571.1;RXRG,synonymous_variant,p.=,ENST00000359842,NM_006917.4;RXRG,non_coding_transcript_exon_variant,,ENST00000470566,;	A	ENST00000359842	Transcript	synonymous_variant	726/2041	423/1392	141/463	I	atC/atT		1		-1	RXRG	HGNC	HGNC:10479	protein_coding	YES	CCDS1248.1	ENSP00000352900	P48443	F1D8Q7	UPI000004989F	NM_006917.4			3/10		PROSITE_profiles:PS51030,hmmpanther:PTHR24083:SF95,hmmpanther:PTHR24083,PROSITE_patterns:PS00031,Pfam_domain:PF00105,Gene3D:3.30.50.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	165419889	165419889	G	A	1	0	0	0	0	0	0	0	1	14026	932	33	3		3	RXRG	1	165419889	Silent	SNP	G	C3N-02003_TP	4370974	165419889	83536533	28	28408											
CEP350	0	.	GRCh38	chr1	180031482	180031482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactttggaggatctttctgGacattctgtgaggtaatgta	9	15	11	6	0	3	1	0	1	3	0	3	4	3	4	0	4	0	2	0	4	2	5	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.3713G>A	p.Gly1238Glu	p.G1238E	ENST00000367607	15/38	55	51	4	65	65	0	varscan-mutect	CEP350,missense_variant,p.Gly1238Glu,ENST00000367607,NM_014810.4;	A	ENST00000367607	Transcript	missense_variant	4131/13491	3713/9354	1238/3117	G/E	gGa/gAa		1		1	CEP350	HGNC	HGNC:24238	protein_coding	YES	CCDS1336.1	ENSP00000356579	Q5VT06		UPI000013CFC5	NM_014810.4	deleterious(0.03)		15/38		hmmpanther:PTHR13958:SF4,hmmpanther:PTHR13958																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	180031482	180031482	G	A	1	0	0	0	0	1	0	0	0	2972	1174	41	3		3	CEP350	1	180031482	Missense_Mutation	SNP	G	C3N-02003_TP	14611593	180031482	68924940	29	28409											
LAMC2	0	.	GRCh38	chr1	183232690	183232690	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccagttggccaaggtgAggagccaagagaacagctac	12	6	13	10	0	1	2	0	1	1	1	2	4	1	3	3	3	4	2	3	3	4	2	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.2053A>T	p.Arg685Trp	p.R685W	ENST00000264144	14/23	337	273	64	276	275	1	strelka-varscan-mutect	LAMC2,missense_variant,p.Arg685Trp,ENST00000264144,NM_005562.2;LAMC2,missense_variant,p.Arg685Trp,ENST00000493293,NM_018891.2;	T	ENST00000264144	Transcript	missense_variant	2118/5147	2053/3582	685/1193	R/W	Agg/Tgg		1		1	LAMC2	HGNC	HGNC:6493	protein_coding	YES	CCDS1352.1	ENSP00000264144	Q13753		UPI000013D4CA	NM_005562.2	deleterious(0.02)		14/23		hmmpanther:PTHR10574:SF270,hmmpanther:PTHR10574																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	183232690	183232690	A	T	1	0	0	0	0	1	0	0	0	8519	295	11	4		4	LAMC2	1	183232690	Missense_Mutation	SNP	A	C3N-02003_TP	3201208	183232690	65723732	30	28410											
PRG4	0	.	GRCh38	chr1	186308169	186308169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacatccaccacctctgacaAgcctgctccaactacaccta	12	7	3	19	0	1	1	0	1	1	0	3	1	3	1	6	0	4	1	6	0	4	2			C3N-02003_TP	C3N-02003_NB	A	A																c.2450A>G	p.Lys817Arg	p.K817R	ENST00000445192	7/13	412	382	30	413	413	0	varscan-mutect	PRG4,missense_variant,p.Lys817Arg,ENST00000445192,NM_005807.4;PRG4,missense_variant,p.Lys776Arg,ENST00000367483,NM_001127708.2;PRG4,missense_variant,p.Lys774Arg,ENST00000635041,NM_001303232.1;PRG4,missense_variant,p.Lys724Arg,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,missense_variant,p.Lys683Arg,ENST00000367482,;TPR,downstream_gene_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000533951,;RNU6-1240P,downstream_gene_variant,,ENST00000365155,;	G	ENST00000445192	Transcript	missense_variant	2495/5044	2450/4215	817/1404	K/R	aAg/aGg	COSM901098	1		1	PRG4	HGNC	HGNC:9364	protein_coding	YES	CCDS1369.1	ENSP00000399679	Q92954		UPI0004620CBB	NM_005807.4	deleterious(0.01)		7/13		Low_complexity_(Seg):seg											1						MODERATE		SNV	5		1	1										PASS		.	.												G	3	3	87	186308169	186308169	A	G	1	0	0	0	0	1	0	0	0	12615	72	3	5		5	PRG4	1	186308169	Missense_Mutation	SNP	A	C3N-02003_TP	3075479	186308169	62648253	31	28411											
CRB1	0	.	GRCh38	chr1	197328422	197328422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttttatttccttgtagAttccttttgcaataaaaaca	12	19	3	7	0	0	1	0	0	0	1	2	1	2	1	2	0	3	2	2	0	7	11			C3N-02003_TP	C3N-02003_NB	A	A																c.71A>G	p.Asn24Ser	p.N24S	ENST00000367400	2/12	100	90	10	145	145	0	strelka-mutect	CRB1,missense_variant,p.Asn24Ser,ENST00000367400,NM_201253.2;CRB1,missense_variant,p.Asn24Ser,ENST00000367399,NM_001193640.1;CRB1,missense_variant,p.Asn24Ser,ENST00000538660,NM_001257966.1;CRB1,splice_region_variant,,ENST00000535699,NM_001257965.1;CRB1,missense_variant,p.Asn24Ser,ENST00000484075,;CRB1,splice_region_variant,,ENST00000475659,;	G	ENST00000367400	Transcript	missense_variant,splice_region_variant	206/4932	71/4221	24/1406	N/S	aAt/aGt	COSM5314307	1		1	CRB1	HGNC	HGNC:2343	protein_coding	YES	CCDS1390.1	ENSP00000356370	P82279		UPI0000073345	NM_201253.2	tolerated(0.82)		2/12		hmmpanther:PTHR24049,Cleavage_site_(Signalp):SignalP-noTM											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	87	197328422	197328422	A	G	1	0	0	0	0	1	0	0	0	3648	347	12	5		5	CRB1	1	197328422	Missense_Mutation	SNP	A	C3N-02003_TP	11020253	197328422	51628000	32	28412											
TNNI1	0	.	GRCh38	chr1	201410414	201410414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccacgttcttcctccagtCacccacctccacaggccgct	6	9	5	21	2	2	0	1	0	1	0	6	0	6	0	7	1	0	2	7	1	0	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.478G>A	p.Asp160Asn	p.D160N	ENST00000361379	8/9	214	201	13	230	230	0	strelka-varscan-mutect	TNNI1,missense_variant,p.Asp160Asn,ENST00000622580,;TNNI1,missense_variant,p.Asp160Asn,ENST00000361379,NM_003281.3;TNNI1,missense_variant,p.Asp160Asn,ENST00000336092,;TNNI1,missense_variant,p.Asp160Asn,ENST00000367312,;TNNI1,intron_variant,,ENST00000555948,;TNNI1,downstream_gene_variant,,ENST00000556362,;TNNI1,downstream_gene_variant,,ENST00000555340,;	T	ENST00000361379	Transcript	missense_variant	571/5413	478/564	160/187	D/N	Gac/Aac		1		-1	TNNI1	HGNC	HGNC:11945	protein_coding	YES	CCDS1411.1	ENSP00000354488	P19237		UPI0000000CCA	NM_003281.3	deleterious(0)		8/9		hmmpanther:PTHR13738:SF9,hmmpanther:PTHR13738,Gene3D:1.20.5.350,Superfamily_domains:SSF90250																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	87	201410414	201410414	C	T	1	0	0	0	0	1	0	0	0	16799	826	29	3		3	TNNI1	1	201410414	Missense_Mutation	SNP	C	C3N-02003_TP	4081992	201410414	47546008	33	28413											
PIGR	0	.	GRCh38	chr1	206935691	206935691	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagggggcagcggccattCtgggccccttcccagagaca	8	5	14	14	1	1	1	0	0	1	1	2	2	2	1	4	4	2	2	4	4	0	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1173G>A	p.=	p.Q391Q	ENST00000356495	5/11	249	220	29	254	254	0	strelka-varscan-mutect	PIGR,synonymous_variant,p.=,ENST00000356495,NM_002644.3;PIGR,upstream_gene_variant,,ENST00000487208,;PIGR,downstream_gene_variant,,ENST00000491503,;	T	ENST00000356495	Transcript	synonymous_variant	1357/4279	1173/2295	391/764	Q	caG/caA		1		-1	PIGR	HGNC	HGNC:8968	protein_coding	YES	CCDS1474.1	ENSP00000348888	P01833		UPI000007407E	NM_002644.3			5/11		hmmpanther:PTHR11860:SF55,hmmpanther:PTHR11860,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	87	206935691	206935691	C	T	1	0	0	0	0	0	0	0	1	11991	912	32	3		3	PIGR	1	206935691	Silent	SNP	C	C3N-02003_TP	5525277	206935691	42020731	34	28414											
USH2A	0	.	GRCh38	chr1	216089072	216089072	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcctaatagcaattattTcatgccattttccatcacta	12	15	4	10	0	2	0	2	0	0	0	3	1	3	0	3	0	3	1	3	0	5	7			C3N-02003_TP	C3N-02003_NB	T	T																c.4826A>G	p.Glu1609Gly	p.E1609G	ENST00000307340	23/72	117	106	11	198	198	0	strelka-varscan-mutect	USH2A,missense_variant,p.Glu1609Gly,ENST00000307340,NM_206933.2;RP11-22M7.2,downstream_gene_variant,,ENST00000446411,;RP11-22M7.2,downstream_gene_variant,,ENST00000430890,;RP11-22M7.2,downstream_gene_variant,,ENST00000442606,;RP11-22M7.2,downstream_gene_variant,,ENST00000445619,;USH2A,non_coding_transcript_exon_variant,,ENST00000481786,;USH2A,upstream_gene_variant,,ENST00000463147,;	C	ENST00000307340	Transcript	missense_variant	5213/18883	4826/15609	1609/5202	E/G	gAa/gGa	COSM5082283,COSM5082284,COSM5432748,COSM5432749	1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0.03)		23/72		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,SMART_domains:SM00282,Superfamily_domains:SSF49899											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												C	3	2	87	216089072	216089072	T	C	1	0	0	0	0	1	0	0	0	17570	1783	62	5		5	USH2A	1	216089072	Missense_Mutation	SNP	T	C3N-02003_TP	9153381	216089072	32867350	35	28415											
DISP1	0	.	GRCh38	chr1	223005938	223005938	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtattaacacactcggaacTttctggtgaaagtttgttaa	12	15	8	6	1	1	1	0	1	1	0	2	2	1	2	0	2	2	3	0	2	5	5	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.4541T>G	p.Leu1514Arg	p.L1514R	ENST00000284476	8/8	150	141	9	195	195	0	strelka-varscan-mutect	DISP1,missense_variant,p.Leu1514Arg,ENST00000284476,NM_032890.3;	G	ENST00000284476	Transcript	missense_variant	4705/4762	4541/4575	1514/1524	L/R	cTt/cGt		1		1	DISP1	HGNC	HGNC:19711	protein_coding	YES	CCDS1536.1	ENSP00000284476	Q96F81		UPI000016069D	NM_032890.3	deleterious_low_confidence(0.01)		8/8																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	223005938	223005938	T	G	1	0	0	0	0	1	0	0	0	4345	1609	56	5		5	DISP1	1	223005938	Missense_Mutation	SNP	T	C3N-02003_TP	6916866	223005938	25950484	36	28416											
DNAH14	0	.	GRCh38	chr1	225303315	225303315	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttattgtagctaactcattcTtaaaagaaaaggtcaatttt	15	16	5	5	0	3	1	2	0	1	1	3	1	3	1	0	1	2	2	0	1	8	8	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.8512T>G	p.Leu2838Val	p.L2838V	ENST00000430092	55/84	126	112	14	115	115	0	strelka-varscan-mutect	DNAH14,missense_variant,p.Leu2838Val,ENST00000430092,NM_001373.1;DNAH14,missense_variant,p.Leu2838Val,ENST00000439375,;DNAH14,missense_variant,p.Leu2185Val,ENST00000445597,;DNAH14,missense_variant,p.Leu636Val,ENST00000327794,;	G	ENST00000430092	Transcript	missense_variant	8727/13763	8512/13548	2838/4515	L/V	Tta/Gta		1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000414402	Q0VDD8		UPI000192C36D	NM_001373.1	deleterious(0.02)		55/84		hmmpanther:PTHR10676:SF254,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF12780,Superfamily_domains:SSF52540																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	87	225303315	225303315	T	G	1	0	0	0	0	1	0	0	0	4415	1606	56	5		5	DNAH14	1	225303315	Missense_Mutation	SNP	T	C3N-02003_TP	2297377	225303315	23653107	37	28417											
PGBD5	0	.	GRCh38	chr1	230325322	230325322	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttacttgctgtatttgTcatcgtatctgcagatgtag	8	16	8	9	1	2	1	1	0	1	1	3	1	2	1	1	0	3	5	1	0	4	6	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1367A>C	p.Asp456Ala	p.D456A	ENST00000391860	6/7	109	100	9	108	107	1	strelka-varscan-mutect	PGBD5,missense_variant,p.Asp456Ala,ENST00000391860,NM_001258311.1;PGBD5,missense_variant,p.Asp387Ala,ENST00000525115,;PGBD5,non_coding_transcript_exon_variant,,ENST00000530424,;	G	ENST00000391860	Transcript	missense_variant	1810/10961	1367/1575	456/524	D/A	gAc/gCc		1		-1	PGBD5	HGNC	HGNC:19405	protein_coding	YES		ENSP00000375733		A0A0A0MS21	UPI000004EBDA	NM_001258311.1	deleterious(0.02)		6/7		hmmpanther:PTHR28576,hmmpanther:PTHR28576:SF2,Pfam_domain:PF13843																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	230325322	230325322	T	G	1	0	0	0	0	1	0	0	0	11874	1667	58	5		5	PGBD5	1	230325322	Missense_Mutation	SNP	T	C3N-02003_TP	5022007	230325322	18631100	38	28418											
OR13G1	0	.	GRCh38	chr1	247672444	247672444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctatggccagggtaatatCagcaacatacaccatcacct	13	8	6	14	0	2	0	2	0	0	0	2	0	2	0	4	2	3	2	4	2	5	4			C3N-02003_TP	C3N-02003_NB	C	C																c.598G>A	p.Asp200Asn	p.D200N	ENST00000359688	1/1	242	227	15	279	279	0	strelka-varscan-mutect	OR13G1,missense_variant,p.Asp200Asn,ENST00000359688,NM_001005487.1;RP11-634B7.4,intron_variant,,ENST00000449298,;OR3D1P,downstream_gene_variant,,ENST00000438288,;	T	ENST00000359688	Transcript	missense_variant	598/924	598/924	200/307	D/N	Gat/Aat	COSM3486753	1		-1	OR13G1	HGNC	HGNC:14999	protein_coding	YES	CCDS31094.1	ENSP00000352717	Q8NGZ3		UPI0000061E5B	NM_001005487.1	deleterious(0.03)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF237,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						MODERATE		SNV			1	1										PASS		.	.												T	3	4	87	247672444	247672444	C	T	1	0	0	0	0	1	0	0	0	11018	826	29	3		3	OR13G1	1	247672444	Missense_Mutation	SNP	C	C3N-02003_TP	17347122	247672444	1283978	39	28419											
SNTG2	0	.	GRCh38	chr2	1267386	1267386	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctcacagaggactgcTggttgcaagcaaacttgtat	10	11	11	9	0	2	1	1	0	1	1	2	2	2	2	0	3	4	6	0	3	3	3	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1099T>C	p.Trp367Arg	p.W367R	ENST00000308624	14/17	230	210	20	224	224	0	strelka-varscan-mutect	SNTG2,missense_variant,p.Trp367Arg,ENST00000308624,NM_018968.3;SNTG2,missense_variant,p.Trp240Arg,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000471239,;	C	ENST00000308624	Transcript	missense_variant	1228/1888	1099/1620	367/539	W/R	Tgg/Cgg		1		1	SNTG2	HGNC	HGNC:13741	protein_coding	YES	CCDS46220.1	ENSP00000311837	Q9NY99		UPI0000456D73	NM_018968.3	deleterious(0.04)		14/17		hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF3,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	1267386	1267386	T	C	1	0	0	0	0	1	0	0	0	15195	1580	55	5		5	SNTG2	2	1267386	Missense_Mutation	SNP	T	C3N-02003_TP		1267386	240926143	40	28420											
TDRD15	0	.	GRCh38	chr2	21139619	21139619	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataacctggtggaaaataacTtgtctttgccaaagtcccta	13	12	7	9	0	1	0	0	0	1	0	2	1	2	1	3	2	3	0	3	2	6	5	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.2152T>C	p.=	p.L718L	ENST00000405799	4/4	98	87	11	159	159	0	strelka-varscan-mutect	TDRD15,synonymous_variant,p.=,ENST00000405799,;TDRD15,synonymous_variant,p.=,ENST00000622654,;	C	ENST00000405799	Transcript	synonymous_variant	2482/6135	2152/5805	718/1934	L	Ttg/Ctg		1		1	TDRD15	HGNC	HGNC:45037	protein_coding	YES	CCDS77385.1	ENSP00000384376	B5MCY1		UPI000173A3F5				4/4																			LOW	1	SNV	2			1										PASS		.	.												C	2	2	87	21139619	21139619	T	C	1	0	0	0	0	0	0	0	1	16141	1606	56	5		5	TDRD15	2	21139619	Silent	SNP	T	C3N-02003_TP	19872233	21139619	221053910	41	28421											
PLB1	0	.	GRCh38	chr2	28525931	28525931	+	Missense_Mutation	SNP	T	T	C																															aaggccacagcaggtgtgcaTgggagtgatgacaggtgagt																								novel		C3N-02003_TP	C3N-02003_NB	T	T																c.311T>C	p.Met104Thr	p.M104T	ENST00000327757	6/58	178	163	15	158	158	0	strelka-varscan-mutect	PLB1,missense_variant,p.Met104Thr,ENST00000422425,NM_001170585.1;PLB1,missense_variant,p.Met104Thr,ENST00000327757,NM_153021.4;PLB1,missense_variant,p.Met103Thr,ENST00000404858,;PLB1,missense_variant,p.Met48Thr,ENST00000416713,;	C	ENST00000327757	Transcript	missense_variant	355/5107	311/4377	104/1458	M/T	aTg/aCg		1		1	PLB1	HGNC	HGNC:30041	protein_coding	YES	CCDS33168.1	ENSP00000330442	Q6P1J6		UPI0000D6117C	NM_153021.4	tolerated(0.25)		6/58		hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF31																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	28525931	28525931	T	C	1	0	0	0	0	1	0	0	0	12118	1464	51	5		5	PLB1	2	28525931	Missense_Mutation	SNP	T	C3N-02003_TP	7386312	28525931	213667598	42	28422	599	3									
PLB1	0	.	GRCh38	chr2	28525940	28525940	+	Missense_Mutation	SNP	T	T	C																															gcaggtgtgcatgggagtgaTgacaggtgagttgtggtttt																								novel		C3N-02003_TP	C3N-02003_NB	T	T																c.320T>C	p.Met107Thr	p.M107T	ENST00000327757	6/58	179	165	14	151	151	0	strelka-varscan-mutect	PLB1,missense_variant,p.Met107Thr,ENST00000422425,NM_001170585.1;PLB1,missense_variant,p.Met107Thr,ENST00000327757,NM_153021.4;PLB1,missense_variant,p.Met106Thr,ENST00000404858,;PLB1,missense_variant,p.Met51Thr,ENST00000416713,;	C	ENST00000327757	Transcript	missense_variant	364/5107	320/4377	107/1458	M/T	aTg/aCg		1		1	PLB1	HGNC	HGNC:30041	protein_coding	YES	CCDS33168.1	ENSP00000330442	Q6P1J6		UPI0000D6117C	NM_153021.4	tolerated(0.07)		6/58		hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF31																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	28525940	28525940	T	C	1	0	0	0	0	1	0	0	0	12118	1478	51	5		5	PLB1	2	28525940	Missense_Mutation	SNP	T	C3N-02003_TP	9	28525940	213667589	43	28423	599	3									
PLB1	0	.	GRCh38	chr2	28525947	28525947	+	Splice_Site	SNP	T	T	C																															tgcatgggagtgatgacaggTgagttgtggttttcacggcc																								novel		C3N-02003_TP	C3N-02003_NB	T	T																c.325+2T>C		p.X109_splice	ENST00000327757		179	167	12	149	149	0	strelka-varscan	PLB1,splice_donor_variant,,ENST00000422425,NM_001170585.1;PLB1,splice_donor_variant,,ENST00000327757,NM_153021.4;PLB1,splice_donor_variant,,ENST00000404858,;PLB1,splice_donor_variant,,ENST00000416713,;	C	ENST00000327757	Transcript	splice_donor_variant	-/5107	325/4377	109/1458				1		1	PLB1	HGNC	HGNC:30041	protein_coding	YES	CCDS33168.1	ENSP00000330442	Q6P1J6		UPI0000D6117C	NM_153021.4				6/57																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	87	28525947	28525947	T	C	1	0	0	0	0	0	0	1	0	12118	1710	59	5		5	PLB1	2	28525947	Splice_Site	SNP	T	C3N-02003_TP	7	28525947	213667582	44	28424	599	3									
GALNT14	0	.	GRCh38	chr2	31114807	31114807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcaagagacatgggaaatGacatacagcaaggtgtcctc	14	8	11	8	0	0	2	0	1	0	1	2	4	1	3	1	2	3	2	1	2	4	2	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.250C>T	p.His84Tyr	p.H84Y	ENST00000324589	3/16	132	121	11	209	209	0	strelka-varscan-mutect	GALNT14,missense_variant,p.Ser2Leu,ENST00000406653,NM_001253827.1;GALNT14,missense_variant,p.His84Tyr,ENST00000324589,NM_001253826.1;GALNT14,intron_variant,,ENST00000349752,NM_024572.3;GALNT14,intron_variant,,ENST00000430167,;GALNT14,non_coding_transcript_exon_variant,,ENST00000498206,;GALNT14,intron_variant,,ENST00000464038,;GALNT14,intron_variant,,ENST00000496397,;GALNT14,intron_variant,,ENST00000485468,;GALNT14,intron_variant,,ENST00000490212,;GALNT14,intron_variant,,ENST00000461193,;GALNT14,intron_variant,,ENST00000455477,;GALNT14,intron_variant,,ENST00000424136,;	A	ENST00000324589	Transcript	missense_variant	311/2169	250/1674	84/557	H/Y	Cat/Tat		1		-1	GALNT14	HGNC	HGNC:22946	protein_coding	YES	CCDS58706.1	ENSP00000314500	Q96FL9		UPI0000073A6F	NM_001253826.1	tolerated_low_confidence(0.99)		3/16																			MODERATE	1	SNV	2			1										PASS		rs1475941089	.												A	3	1	87	31114807	31114807	G	A	1	0	0	0	0	1	0	0	0	6080	1294	45	3		3	GALNT14	2	31114807	Missense_Mutation	SNP	G	C3N-02003_TP	2588860	31114807	211078722	45	28425											
PLEKHH2	0	.	GRCh38	chr2	43738371	43738371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttataaatgctgcagttGactctcctgcaattgattac	10	17	6	8	0	1	2	0	2	1	0	2	2	1	2	1	0	4	4	1	0	5	7	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.2974G>A	p.Asp992Asn	p.D992N	ENST00000282406	20/30	63	59	4	83	83	0	varscan-mutect	PLEKHH2,missense_variant,p.Asp992Asn,ENST00000282406,NM_172069.3;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405223,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000480103,;PLEKHH2,upstream_gene_variant,,ENST00000493408,;	A	ENST00000282406	Transcript	missense_variant	3084/6981	2974/4482	992/1493	D/N	Gac/Aac		1		1	PLEKHH2	HGNC	HGNC:30506	protein_coding	YES	CCDS1812.1	ENSP00000282406	Q8IVE3		UPI000016021B	NM_172069.3	tolerated(0.12)		20/30		PROSITE_profiles:PS51016,hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3,SMART_domains:SM00139																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	43738371	43738371	G	A	1	0	0	0	0	1	0	0	0	12170	1290	45	3		3	PLEKHH2	2	43738371	Missense_Mutation	SNP	G	C3N-02003_TP	12623564	43738371	198455158	46	28426											
SLC3A1	0	.	GRCh38	chr2	44320235	44320235	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagatcggctttgaagttaTatcaagatttaagtctactt	12	15	7	7	1	2	3	1	1	1	2	3	3	2	3	1	1	1	2	1	1	6	7	rs766431278		C3N-02003_TP	C3N-02003_NB	T	T																c.1654T>A	p.Tyr552Asn	p.Y552N	ENST00000260649	10/10	105	96	9	158	158	0	strelka-varscan-mutect	SLC3A1,missense_variant,p.Tyr552Asn,ENST00000260649,NM_000341.3;SLC3A1,missense_variant,p.Tyr274Asn,ENST00000409380,;SLC3A1,missense_variant,p.Tyr183Asn,ENST00000409740,;PREPL,3_prime_UTR_variant,,ENST00000541738,NM_001171617.1;PREPL,3_prime_UTR_variant,,ENST00000409936,NM_001171606.1;PREPL,3_prime_UTR_variant,,ENST00000409411,NM_001171613.1;PREPL,3_prime_UTR_variant,,ENST00000409957,;PREPL,downstream_gene_variant,,ENST00000260648,NM_006036.4;PREPL,downstream_gene_variant,,ENST00000410081,;PREPL,downstream_gene_variant,,ENST00000409272,NM_001171603.1;SLC3A1,downstream_gene_variant,,ENST00000409229,;SLC3A1,downstream_gene_variant,,ENST00000409387,;PREPL,downstream_gene_variant,,ENST00000378511,NM_001042385.2;PREPL,downstream_gene_variant,,ENST00000378520,NM_001042386.2;SLC3A1,downstream_gene_variant,,ENST00000611973,;PREPL,downstream_gene_variant,,ENST00000420756,;PREPL,downstream_gene_variant,,ENST00000444696,;PREPL,3_prime_UTR_variant,,ENST00000426481,;PREPL,3_prime_UTR_variant,,ENST00000425263,;	A	ENST00000260649	Transcript	missense_variant	1730/2989	1654/2058	552/685	Y/N	Tat/Aat	rs766431278,HM070021	1		1	SLC3A1	HGNC	HGNC:11025	protein_coding	YES	CCDS1819.1	ENSP00000260649	Q07837	A0A0S2Z4E1	UPI000013D0F2	NM_000341.3	deleterious(0)		10/10		Gene3D:3.20.20.80,hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF73,Superfamily_domains:SSF51445																	MODERATE	1	SNV	1		0,1	1										PASS		rs766431278	.												A	3	1	87	44320235	44320235	T	A	1	0	0	0	0	1	0	0	0	14904	1406	49	4		4	SLC3A1	2	44320235	Missense_Mutation	SNP	T	C3N-02003_TP	581864	44320235	197873294	47	28427											
LHCGR	0	.	GRCh38	chr2	48688741	48688741	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcccataatatcttcacaGggattaaaagcatctggttc	13	12	7	9	0	3	0	1	0	2	0	4	1	3	1	1	2	2	2	1	2	5	6	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1056C>G	p.=	p.P352P	ENST00000294954	11/11	198	185	13	299	299	0	strelka-varscan-mutect	LHCGR,synonymous_variant,p.=,ENST00000294954,NM_000233.3;LHCGR,synonymous_variant,p.=,ENST00000405626,;STON1-GTF2A1L,intron_variant,,ENST00000402114,NM_001198593.1;LHCGR,intron_variant,,ENST00000403273,;LHCGR,intron_variant,,ENST00000401907,;GTF2A1L,intron_variant,,ENST00000508440,;RP11-310N16.1,intron_variant,,ENST00000602369,;	C	ENST00000294954	Transcript	synonymous_variant	1078/3044	1056/2100	352/699	P	ccC/ccG		1		-1	LHCGR	HGNC	HGNC:6585	protein_coding	YES	CCDS1842.1	ENSP00000294954	P22888		UPI000013E1E1	NM_000233.3			11/11		Gene3D:1.20.1070.10,Prints_domain:PR00373,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF1,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	87	48688741	48688741	G	C	1	0	0	0	0	0	0	0	1	8671	987	35	4		4	LHCGR	2	48688741	Silent	SNP	G	C3N-02003_TP	4368506	48688741	193504788	48	28428											
NRXN1	0	.	GRCh38	chr2	50497387	50497387	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catccccactgttatatagaAttaatccatctagggatgtt	12	14	6	9	0	1	1	0	0	1	1	3	2	3	2	3	1	0	2	3	1	6	6	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.2945T>C	p.Ile982Thr	p.I982T	ENST00000404971	15/24	35	28	7	28	28	0	strelka-varscan-mutect	NRXN1,missense_variant,p.Ile942Thr,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Ile934Thr,ENST00000625672,;NRXN1,missense_variant,p.Ile982Thr,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Ile942Thr,ENST00000401669,;NRXN1,missense_variant,p.Ile930Thr,ENST00000405472,;NRXN1,missense_variant,p.Ile934Thr,ENST00000630543,;NRXN1,missense_variant,p.Ile672Thr,ENST00000406859,;NRXN1,missense_variant,p.Ile657Thr,ENST00000402717,;NRXN1,upstream_gene_variant,,ENST00000625320,;NRXN1,downstream_gene_variant,,ENST00000495871,;NRXN1,non_coding_transcript_exon_variant,,ENST00000636298,;NRXN1,upstream_gene_variant,,ENST00000637889,;NRXN1,missense_variant,p.Ile660Thr,ENST00000331040,;NRXN1,downstream_gene_variant,,ENST00000474354,;NRXN1,downstream_gene_variant,,ENST00000462791,;NRXN1,upstream_gene_variant,,ENST00000626192,;	G	ENST00000404971	Transcript	missense_variant	4285/7578	2945/4644	982/1547	I/T	aTt/aCt		1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	deleterious(0)		15/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	50497387	50497387	A	G	1	0	0	0	0	1	0	0	0	10724	101	4	5		5	NRXN1	2	50497387	Missense_Mutation	SNP	A	C3N-02003_TP	1808646	50497387	191696142	49	28429											
MFSD9	0	.	GRCh38	chr2	102718552	102718552	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctgacctcctgggcaacCcccgagaggagaggggcgat	8	4	17	12	2	0	3	0	1	0	2	1	6	1	3	4	5	1	2	4	5	1	0	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1293G>A	p.=	p.G431G	ENST00000258436	6/6	148	140	8	125	125	0	strelka-varscan-mutect	MFSD9,synonymous_variant,p.=,ENST00000258436,NM_032718.3;MFSD9,upstream_gene_variant,,ENST00000496253,;MFSD9,3_prime_UTR_variant,,ENST00000438943,;MFSD9,3_prime_UTR_variant,,ENST00000437075,;MFSD9,downstream_gene_variant,,ENST00000411991,;MFSD9,downstream_gene_variant,,ENST00000428085,;	T	ENST00000258436	Transcript	synonymous_variant	1337/4049	1293/1425	431/474	G	ggG/ggA		1		-1	MFSD9	HGNC	HGNC:28158	protein_coding	YES	CCDS2063.1	ENSP00000258436	Q8NBP5		UPI0000070215	NM_032718.3			6/6		PROSITE_profiles:PS50850,hmmpanther:PTHR23504,hmmpanther:PTHR23504:SF14,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	87	102718552	102718552	C	T	1	0	0	0	0	0	0	0	1	9497	610	22	3		3	MFSD9	2	102718552	Silent	SNP	C	C3N-02003_TP	52221165	102718552	139474977	50	28430											
MGAT5	0	.	GRCh38	chr2	134362324	134362324	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtggttgagcagcacctGaactccagtgatatccacca	10	11	9	11	0	0	3	0	3	0	0	2	3	2	3	4	1	3	3	4	1	2	3	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1296G>A	p.=	p.L432L	ENST00000409645	11/17	102	90	12	165	165	0	strelka-varscan-mutect	MGAT5,synonymous_variant,p.=,ENST00000409645,;MGAT5,synonymous_variant,p.=,ENST00000281923,NM_002410.4;	A	ENST00000409645	Transcript	synonymous_variant	1548/8252	1296/2226	432/741	L	ctG/ctA		1		1	MGAT5	HGNC	HGNC:7049	protein_coding	YES	CCDS2171.1	ENSP00000386377	Q09328		UPI0000049D8F				11/17		hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF3,Pfam_domain:PF15024																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	87	134362324	134362324	G	A	1	0	0	0	0	0	0	0	1	9509	1277	45	3		3	MGAT5	2	134362324	Silent	SNP	G	C3N-02003_TP	31643772	134362324	107831205	51	28431											
NEB	0	.	GRCh38	chr2	151677662	151677662	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggatgttgcctgtacttcTtttcattcagagcatcaccg	7	15	8	11	1	4	1	3	0	1	1	4	2	4	2	2	1	3	3	2	1	1	6	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.3677A>C	p.Lys1226Thr	p.K1226T	ENST00000618972	34/183	214	200	14	240	240	0	strelka-varscan-mutect	NEB,missense_variant,p.Lys1226Thr,ENST00000618972,NM_001271208.1;NEB,missense_variant,p.Lys1226Thr,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Lys1226Thr,ENST00000427231,NM_001164507.1;NEB,missense_variant,p.Lys1226Thr,ENST00000603639,;NEB,missense_variant,p.Lys1226Thr,ENST00000604864,;NEB,missense_variant,p.Lys1226Thr,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Lys1226Thr,ENST00000172853,;	G	ENST00000618972	Transcript	missense_variant	3880/26307	3677/25683	1226/8560	K/T	aAg/aCg		1		-1	NEB	HGNC	HGNC:7720	protein_coding	YES	CCDS74588.1	ENSP00000484342		A0A087X1N7	UPI0004E4CCB0	NM_001271208.1	tolerated(0.31)		34/183		PROSITE_profiles:PS51216,SMART_domains:SM00227																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	87	151677662	151677662	T	G	1	0	0	0	0	1	0	0	0	10326	1609	56	5		5	NEB	2	151677662	Missense_Mutation	SNP	T	C3N-02003_TP	17315338	151677662	90515867	52	28432											
SCN9A	0	.	GRCh38	chr2	166277218	166277218	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgcatgccgaccacagcaAaaatgaagacgatgatggcc	14	5	11	11	2	0	3	0	2	0	1	0	5	0	3	3	1	3	3	3	1	3	0	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.2606T>C	p.Phe869Ser	p.F869S	ENST00000409672	16/27	220	198	22	232	232	0	varscan-mutect	SCN9A,missense_variant,p.Phe880Ser,ENST00000303354,;SCN9A,missense_variant,p.Phe869Ser,ENST00000409672,NM_002977.3;SCN9A,missense_variant,p.Phe880Ser,ENST00000409435,;SCN9A,downstream_gene_variant,,ENST00000452182,;SCN9A,downstream_gene_variant,,ENST00000454569,;AC010127.3,non_coding_transcript_exon_variant,,ENST00000447809,;	G	ENST00000409672	Transcript	missense_variant	2953/9768	2606/5934	869/1977	F/S	tTt/tCt		1		-1	SCN9A	HGNC	HGNC:10597	protein_coding	YES	CCDS46441.1	ENSP00000386306	Q15858		UPI0000140AC7	NM_002977.3	deleterious(0.04)		16/27		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF221,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	87	166277218	166277218	A	G	1	0	0	0	0	1	0	0	0	14194	14	1	5		5	SCN9A	2	166277218	Missense_Mutation	SNP	A	C3N-02003_TP	14599556	166277218	75916311	53	28433											
OSBPL6	0	.	GRCh38	chr2	178339753	178339753	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtcagcaaagatacaaaaAtacaactgcaggtacagatt	18	8	8	7	0	1	2	1	0	0	2	1	2	1	2	0	1	6	3	0	1	7	4	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.976A>C	p.Ile326Leu	p.I326L	ENST00000392505	11/26	65	61	4	91	91	0	varscan-mutect	OSBPL6,missense_variant,p.Ile326Leu,ENST00000190611,NM_032523.3;OSBPL6,missense_variant,p.Ile326Leu,ENST00000359685,NM_001201482.1;OSBPL6,missense_variant,p.Ile326Leu,ENST00000392505,NM_001201480.1;OSBPL6,missense_variant,p.Ile326Leu,ENST00000409631,;OSBPL6,missense_variant,p.Ile305Leu,ENST00000315022,NM_145739.2;OSBPL6,intron_variant,,ENST00000409045,NM_001201481.1;OSBPL6,intron_variant,,ENST00000357080,;	C	ENST00000392505	Transcript	missense_variant	1520/3637	976/2880	326/959	I/L	Ata/Cta		1		1	OSBPL6	HGNC	HGNC:16388	protein_coding	YES	CCDS56150.1	ENSP00000376293	Q9BZF3		UPI0000E5A29F	NM_001201480.1	tolerated(0.62)		11/26																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	178339753	178339753	A	C	1	0	0	0	0	1	0	0	0	11347	101	4	5		5	OSBPL6	2	178339753	Missense_Mutation	SNP	A	C3N-02003_TP	12062535	178339753	63853776	54	28434											
PRKRA	0	.	GRCh38	chr2	178444472	178444472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttggttgcttggaagggtCaggcattaaggggtcaggaa	9	11	16	5	0	2	0	2	0	0	0	2	2	2	2	0	7	1	3	0	7	3	4	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.346G>A	p.Asp116Asn	p.D116N	ENST00000325748	4/8	202	188	14	403	403	0	strelka-varscan-mutect	PRKRA,missense_variant,p.Asp116Asn,ENST00000325748,NM_003690.4;PRKRA,missense_variant,p.Asp105Asn,ENST00000432031,NM_001139517.1;PRKRA,missense_variant,p.Asp91Asn,ENST00000487082,NM_001139518.1;PRKRA,intron_variant,,ENST00000457633,;AC009948.5,downstream_gene_variant,,ENST00000453026,;PRKRA,downstream_gene_variant,,ENST00000470200,;PRKRA,downstream_gene_variant,,ENST00000460433,;PRKRA,3_prime_UTR_variant,,ENST00000424699,;PRKRA,3_prime_UTR_variant,,ENST00000448279,;PRKRA,non_coding_transcript_exon_variant,,ENST00000474793,;PRKRA,upstream_gene_variant,,ENST00000490501,;PRKRA,downstream_gene_variant,,ENST00000466165,;	T	ENST00000325748	Transcript	missense_variant	547/1826	346/942	116/313	D/N	Gac/Aac		1		-1	PRKRA	HGNC	HGNC:9438	protein_coding	YES	CCDS2279.1	ENSP00000318176	O75569		UPI0000073B07	NM_003690.4	tolerated(0.15)		4/8		hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	178444472	178444472	C	T	1	0	0	0	0	1	0	0	0	12657	826	29	3		3	PRKRA	2	178444472	Missense_Mutation	SNP	C	C3N-02003_TP	104719	178444472	63749057	55	28435											
TTN	0	.	GRCh38	chr2	178552510	178552510	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggatatctgacaggtcaacTtcaggtgtaataataagttc	13	12	10	6	0	3	1	2	1	1	0	4	2	3	2	0	3	1	2	0	3	5	6	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.90390A>C	p.Glu30130Asp	p.E30130D	ENST00000589042	335/363	73	68	5	84	84	0	varscan-mutect	TTN,missense_variant,p.Glu30130Asp,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Glu28489Asp,ENST00000591111,;TTN,missense_variant,p.Glu28489Asp,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Glu27562Asp,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Glu21065Asp,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Glu21257Asp,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Glu21190Asp,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;RP11-65L3.2,downstream_gene_variant,,ENST00000603415,;RP11-65L3.3,upstream_gene_variant,,ENST00000624360,;	G	ENST00000589042	Transcript	missense_variant	90615/109224	90390/107976	30130/35991	E/D	gaA/gaC		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			335/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	87	178552510	178552510	T	G	1	0	0	0	0	1	0	0	0	17245	1606	56	5		5	TTN	2	178552510	Missense_Mutation	SNP	T	C3N-02003_TP	108038	178552510	63641019	56	28436											
ZC3H15	0	.	GRCh38	chr2	186508674	186508674	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgatgaaaatcttttcActggagaggatttggatgaa	12	14	11	4	0	2	4	1	3	1	1	2	7	2	6	0	3	0	1	0	3	3	4	rs1043497		C3N-02003_TP	C3N-02003_NB	A	A																c.1222A>G	p.Thr408Ala	p.T408A	ENST00000337859	10/10	162	144	18	230	230	0	strelka-varscan-mutect	ZC3H15,missense_variant,p.Thr408Ala,ENST00000337859,NM_018471.2;ZC3H15,3_prime_UTR_variant,,ENST00000445547,;ZC3H15,downstream_gene_variant,,ENST00000468120,;ZC3H15,downstream_gene_variant,,ENST00000481101,;ZC3H15,downstream_gene_variant,,ENST00000496289,;ZC3H15,non_coding_transcript_exon_variant,,ENST00000498757,;ZC3H15,downstream_gene_variant,,ENST00000421536,;	G	ENST00000337859	Transcript	missense_variant	1449/2138	1222/1281	408/426	T/A	Act/Gct	rs1043497	1		1	ZC3H15	HGNC	HGNC:29528	protein_coding	YES	CCDS42791.1	ENSP00000338788	Q8WU90		UPI00000437CE	NM_018471.2	tolerated(0.28)		10/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12681,hmmpanther:PTHR12681:SF5																	MODERATE	1	SNV	1			1										PASS		rs1043497	.												G	3	3	87	186508674	186508674	A	G	1	0	0	0	0	1	0	0	0	18142	159	6	5		5	ZC3H15	2	186508674	Missense_Mutation	SNP	A	C3N-02003_TP	7956164	186508674	55684855	57	28437											
DYTN	0	.	GRCh38	chr2	206663328	206663328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggaaccttttcagttgaaGaatggtcaaccttgttcccc	9	14	8	10	0	2	2	2	1	0	1	3	3	3	3	4	2	2	2	4	2	4	6	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1208C>T	p.Ser403Phe	p.S403F	ENST00000452335	11/12	141	126	15	160	160	0	strelka-varscan-mutect	DYTN,missense_variant,p.Ser403Phe,ENST00000452335,NM_001093730.1;	A	ENST00000452335	Transcript	missense_variant	1325/2051	1208/1737	403/578	S/F	tCt/tTt		1		-1	DYTN	HGNC	HGNC:23279	protein_coding	YES	CCDS46502.1	ENSP00000396593	A2CJ06		UPI0000EE0AB9	NM_001093730.1	tolerated(0.19)		11/12																			MODERATE	1	SNV	1			1										PASS		rs1230202404	.												A	3	1	87	206663328	206663328	G	A	1	0	0	0	0	1	0	0	0	4684	942	33	3		3	DYTN	2	206663328	Missense_Mutation	SNP	G	C3N-02003_TP	20154654	206663328	35530201	58	28438											
UNC80	0	.	GRCh38	chr2	209995587	209995587	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcagtattagatgagtctCatgtttaattctgtatcttg	10	18	8	5	0	3	2	1	1	3	1	4	2	3	2	0	0	1	4	0	0	4	7	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.9769C>G	p.His3257Asp	p.H3257D	ENST00000439458	64/64	128	120	8	119	119	0	strelka-varscan-mutect	UNC80,missense_variant,p.His3257Asp,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.His3233Asp,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000477924,;	G	ENST00000439458	Transcript	missense_variant	9849/13562	9769/9777	3257/3258	H/D	Cat/Gat		1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1	deleterious_low_confidence(0.01)		64/64																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	87	209995587	209995587	C	G	1	0	0	0	0	1	0	0	0	17521	826	29	4		4	UNC80	2	209995587	Missense_Mutation	SNP	C	C3N-02003_TP	3332259	209995587	32197942	59	28439											
CFAP65	0	.	GRCh38	chr2	219032558	219032558	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatgaccgtgaagaagaacTtggtcttggggggcctgcag	9	8	17	7	1	1	4	0	2	1	2	1	5	1	5	2	5	2	1	2	5	3	2	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.557A>C	p.Lys186Thr	p.K186T	ENST00000341552	6/35	136	120	16	144	144	0	strelka-varscan-mutect	CFAP65,missense_variant,p.Lys186Thr,ENST00000341552,NM_194302.3;CFAP65,missense_variant,p.Lys186Thr,ENST00000453220,;CFAP65,missense_variant,p.Lys175Thr,ENST00000409865,NM_001278295.1;CFAP65,missense_variant,p.Lys121Thr,ENST00000410037,NM_001278296.1;CFAP65,missense_variant,p.Lys175Thr,ENST00000457968,;CFAP65,5_prime_UTR_variant,,ENST00000441968,;CFAP65,downstream_gene_variant,,ENST00000295729,NM_152389.3;CFAP65,downstream_gene_variant,,ENST00000458526,;CFAP65,downstream_gene_variant,,ENST00000436631,;CFAP65,non_coding_transcript_exon_variant,,ENST00000462848,;CFAP65,intron_variant,,ENST00000463683,;CFAP65,upstream_gene_variant,,ENST00000474601,;	G	ENST00000341552	Transcript	missense_variant	641/5953	557/5778	186/1925	K/T	aAg/aCg		1		-1	CFAP65	HGNC	HGNC:25325	protein_coding	YES	CCDS2430.2	ENSP00000340776	Q6ZU64		UPI0000609097	NM_194302.3	deleterious(0.01)		6/35																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	87	219032558	219032558	T	G	1	0	0	0	0	1	0	0	0	3029	1609	56	5		5	CFAP65	2	219032558	Missense_Mutation	SNP	T	C3N-02003_TP	9036971	219032558	23160971	60	28440											
SPHKAP	0	.	GRCh38	chr2	227991074	227991074	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaggcagctatccactGcagagtggctcggagctcgg	8	8	14	11	2	1	2	1	0	0	2	4	3	2	3	1	4	3	5	1	4	1	2	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.4885C>T	p.Gln1629Ter	p.Q1629*	ENST00000392056	11/12	279	254	25	273	273	0	strelka-varscan-mutect	SPHKAP,stop_gained,p.Gln1629Ter,ENST00000392056,NM_001142644.1;SPHKAP,stop_gained,p.Gln1600Ter,ENST00000344657,NM_030623.3;SPHKAP,non_coding_transcript_exon_variant,,ENST00000490603,;	A	ENST00000392056	Transcript	stop_gained	4932/6917	4885/5103	1629/1700	Q/*	Cag/Tag		1		-1	SPHKAP	HGNC	HGNC:30619	protein_coding	YES	CCDS46537.1	ENSP00000375909	Q2M3C7		UPI0000411D7E	NM_001142644.1			11/12		hmmpanther:PTHR10226:SF7,hmmpanther:PTHR10226,Pfam_domain:PF05716																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	87	227991074	227991074	G	A	1	0	0	0	0	0	1	0	0	15399	1328	46	3		3	SPHKAP	2	227991074	Nonsense_Mutation	SNP	G	C3N-02003_TP	8958516	227991074	14202455	61	28441											
UGT1A4	0	.	GRCh38	chr2	233719252	233719252	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcaggcacctgaatgctacTtcctttgatgtggttttaac	9	15	8	9	0	1	2	1	2	0	0	2	2	2	2	2	2	3	3	2	2	3	5	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.432T>G	p.=	p.T144T	ENST00000373409	1/5	285	266	19	304	304	0	varscan-mutect	UGT1A4,synonymous_variant,p.=,ENST00000373409,NM_007120.2;UGT1A6,intron_variant,,ENST00000305139,NM_001072.3;UGT1A9,intron_variant,,ENST00000354728,NM_021027.2;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A5,intron_variant,,ENST00000373414,NM_019078.1;UGT1A7,intron_variant,,ENST00000373426,NM_019077.2;UGT1A10,intron_variant,,ENST00000373445,;UGT1A6,intron_variant,,ENST00000373424,NM_205862.1;UGT1A6,intron_variant,,ENST00000406651,;UGT1A6,intron_variant,,ENST00000480628,;UGT1A6,intron_variant,,ENST00000478062,;UGT1A4,synonymous_variant,p.=,ENST00000450233,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A6,intron_variant,,ENST00000484784,;RPL17P11,downstream_gene_variant,,ENST00000417593,;	G	ENST00000373409	Transcript	synonymous_variant	475/2388	432/1605	144/534	T	acT/acG		1		1	UGT1A4	HGNC	HGNC:12536	protein_coding	YES	CCDS33405.1	ENSP00000362508	P22310		UPI0000001044	NM_007120.2			1/5		Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF173,Superfamily_domains:SSF53756																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	87	233719252	233719252	T	G	1	0	0	0	0	0	0	0	1	17472	1596	56	5		5	UGT1A4	2	233719252	Silent	SNP	T	C3N-02003_TP	5728178	233719252	8474277	62	28442											
SEC13	0	.	GRCh38	chr3	10304158	10304158	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatcatcacaggtccaaatGaacacacgaccatcctagga	15	6	7	13	1	2	1	2	1	0	0	4	3	4	2	3	2	1	1	3	2	3	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.861C>T	p.=	p.F287F	ENST00000383801	9/10	205	187	18	152	152	0	strelka-varscan-mutect	SEC13,synonymous_variant,p.=,ENST00000397117,;SEC13,synonymous_variant,p.=,ENST00000383801,NM_001136026.2;SEC13,synonymous_variant,p.=,ENST00000397109,NM_001136232.2;SEC13,synonymous_variant,p.=,ENST00000350697,NM_183352.2;SEC13,synonymous_variant,p.=,ENST00000337354,NM_030673.3;SEC13,non_coding_transcript_exon_variant,,ENST00000492602,;SEC13,non_coding_transcript_exon_variant,,ENST00000479868,;SEC13,non_coding_transcript_exon_variant,,ENST00000477547,;SEC13,non_coding_transcript_exon_variant,,ENST00000490283,;SEC13,non_coding_transcript_exon_variant,,ENST00000476597,;	A	ENST00000383801	Transcript	synonymous_variant	933/1479	861/1107	287/368	F	ttC/ttT		1		-1	SEC13	HGNC	HGNC:10697	protein_coding	YES	CCDS63540.1	ENSP00000373312	P55735		UPI0000D4C6C4	NM_001136026.2			9/10		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR11024,hmmpanther:PTHR11024:SF8,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	87	10304158	10304158	G	A	1	0	0	0	0	0	0	0	1	14256	1281	45	3		3	SEC13	3	10304158	Silent	SNP	G	C3N-02003_TP		10304158	187991401	63	28443											
SEC13	0	.	GRCh38	chr3	10305658	10305658	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgaggcttccaggtacaAcagcaggggcccagctgacg	10	6	13	12	1	0	2	0	2	0	0	1	2	1	2	2	4	4	4	2	4	3	3	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.623T>G	p.Val208Gly	p.V208G	ENST00000383801	7/10	186	157	29	166	166	0	strelka-varscan-mutect	SEC13,missense_variant,p.Val148Gly,ENST00000397117,;SEC13,missense_variant,p.Val208Gly,ENST00000383801,NM_001136026.2;SEC13,missense_variant,p.Val148Gly,ENST00000397109,NM_001136232.2;SEC13,missense_variant,p.Val162Gly,ENST00000350697,NM_183352.2;SEC13,missense_variant,p.Val165Gly,ENST00000337354,NM_030673.3;SEC13,upstream_gene_variant,,ENST00000492602,;SEC13,non_coding_transcript_exon_variant,,ENST00000479868,;SEC13,non_coding_transcript_exon_variant,,ENST00000477547,;SEC13,non_coding_transcript_exon_variant,,ENST00000490283,;SEC13,non_coding_transcript_exon_variant,,ENST00000476597,;	C	ENST00000383801	Transcript	missense_variant	695/1479	623/1107	208/368	V/G	gTt/gGt		1		-1	SEC13	HGNC	HGNC:10697	protein_coding	YES	CCDS63540.1	ENSP00000373312	P55735		UPI0000D4C6C4	NM_001136026.2	tolerated(0.22)		7/10		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR11024,hmmpanther:PTHR11024:SF8,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	87	10305658	10305658	A	C	1	0	0	0	0	1	0	0	0	14256	43	2	5		5	SEC13	3	10305658	Missense_Mutation	SNP	A	C3N-02003_TP	1500	10305658	187989901	64	28444											
COL7A1	0	.	GRCh38	chr3	48568530	48568530	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatccctgctgcaccaggtTgaccctgtgagaaacacaga	11	7	11	12	0	0	3	0	2	0	2	1	5	1	4	3	2	3	3	3	2	1	1	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.7763A>G	p.Gln2588Arg	p.Q2588R	ENST00000328333	104/118	62	56	6	42	42	0	strelka-varscan-mutect	COL7A1,missense_variant,p.Gln2588Arg,ENST00000328333,NM_000094.3;UCN2,upstream_gene_variant,,ENST00000273610,NM_033199.3;COL7A1,downstream_gene_variant,,ENST00000422991,;COL7A1,upstream_gene_variant,,ENST00000470076,;COL7A1,non_coding_transcript_exon_variant,,ENST00000487017,;COL7A1,non_coding_transcript_exon_variant,,ENST00000459756,;COL7A1,non_coding_transcript_exon_variant,,ENST00000467985,;COL7A1,upstream_gene_variant,,ENST00000466591,;COL7A1,upstream_gene_variant,,ENST00000474432,;COL7A1,upstream_gene_variant,,ENST00000465238,;COL7A1,downstream_gene_variant,,ENST00000462475,;	C	ENST00000328333	Transcript	missense_variant	7871/9276	7763/8835	2588/2944	Q/R	cAa/cGa		1		-1	COL7A1	HGNC	HGNC:2214	protein_coding	YES	CCDS2773.1	ENSP00000332371	Q02388		UPI0000126D20	NM_000094.3	deleterious(0.03)		104/118		Low_complexity_(Seg):seg,hmmpanther:PTHR24020,hmmpanther:PTHR24020:SF4,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		rs1233028552	.												C	3	2	87	48568530	48568530	T	C	1	0	0	0	0	1	0	0	0	3493	1826	63	5		5	COL7A1	3	48568530	Missense_Mutation	SNP	T	C3N-02003_TP	38262872	48568530	149727029	65	28445											
TLR9	0	.	GRCh38	chr3	52223774	52223774	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcctgcctgcaggggttcTtgtaataacagttgccgtcc	6	12	12	11	1	1	0	0	0	1	0	2	0	2	0	4	2	5	4	4	2	2	5	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.542A>T	p.Lys181Met	p.K181M	ENST00000360658	2/2	51	47	4	40	40	0	strelka-mutect	TLR9,missense_variant,p.Lys181Met,ENST00000360658,NM_017442.3;RP11-330H6.5,missense_variant,p.Lys335Met,ENST00000494383,;TWF2,downstream_gene_variant,,ENST00000305533,NM_007284.3;TWF2,downstream_gene_variant,,ENST00000499914,;RP11-330H6.6,upstream_gene_variant,,ENST00000624096,;RP11-330H6.5,downstream_gene_variant,,ENST00000478201,;	A	ENST00000360658	Transcript	missense_variant	1176/3870	542/3099	181/1032	K/M	aAg/aTg		1		-1	TLR9	HGNC	HGNC:15633	protein_coding	YES	CCDS2848.1	ENSP00000353874	Q9NR96		UPI0000001625	NM_017442.3	deleterious(0.03)		2/2		Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF37,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	52223774	52223774	T	A	1	0	0	0	0	1	0	0	0	16404	1609	56	4		4	TLR9	3	52223774	Missense_Mutation	SNP	T	C3N-02003_TP	3655244	52223774	146071785	66	28446											
SEMA3G	0	.	GRCh38	chr3	52435820	52435820	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgaagccaatgagctgcAggatgtccttgtaccaggcc	9	8	13	11	1	0	1	0	1	0	0	1	3	1	2	4	3	4	3	4	3	3	2	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.2132T>C	p.Leu711Pro	p.L711P	ENST00000231721	16/16	421	372	49	344	344	0	strelka-varscan-mutect	SEMA3G,missense_variant,p.Leu711Pro,ENST00000231721,NM_020163.1;SEMA3G,downstream_gene_variant,,ENST00000465657,;	G	ENST00000231721	Transcript	missense_variant	2132/4899	2132/2349	711/782	L/P	cTg/cCg		1		-1	SEMA3G	HGNC	HGNC:30400	protein_coding	YES	CCDS2856.1	ENSP00000231721	Q9NS98		UPI000004250D	NM_020163.1	deleterious(0)		16/16		hmmpanther:PTHR11036:SF20,hmmpanther:PTHR11036																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	52435820	52435820	A	G	1	0	0	0	0	1	0	0	0	14306	188	7	5		5	SEMA3G	3	52435820	Missense_Mutation	SNP	A	C3N-02003_TP	212046	52435820	145859739	67	28447											
FLNB	0	.	GRCh38	chr3	58105107	58105107	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagttcaagttggccctgaAgcgggtatgcagaaagtccg	11	8	14	8	2	1	2	1	1	0	1	2	3	2	2	2	2	2	4	2	2	5	3	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.1638A>G	p.=	p.E546E	ENST00000490882	11/47	526	442	84	528	526	2	strelka-varscan-mutect	FLNB,synonymous_variant,p.=,ENST00000295956,NM_001457.3;FLNB,synonymous_variant,p.=,ENST00000429972,NM_001164318.1;FLNB,synonymous_variant,p.=,ENST00000358537,NM_001164319.1;FLNB,synonymous_variant,p.=,ENST00000490882,NM_001164317.1;FLNB,synonymous_variant,p.=,ENST00000493452,;	G	ENST00000490882	Transcript	synonymous_variant	1803/8079	1638/7902	546/2633	E	gaA/gaG		1		1	FLNB	HGNC	HGNC:3755	protein_coding	YES	CCDS54599.1	ENSP00000420213	O75369		UPI0001765F91	NM_001164317.1			11/47		Gene3D:2.60.40.10,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF238,SMART_domains:SM00557,Superfamily_domains:SSF81296,Superfamily_domains:SSF81296																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	87	58105107	58105107	A	G	1	0	0	0	0	0	0	0	1	5790	69	3	5		5	FLNB	3	58105107	Silent	SNP	A	C3N-02003_TP	5669287	58105107	140190452	68	28448											
USF3	0	.	GRCh38	chr3	113657830	113657830	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatggtccaggaggttgActgccataggagctagatga	12	8	15	6	0	0	4	0	2	0	2	1	7	1	6	2	4	2	2	2	4	2	3	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.3852T>C	p.=	p.S1284S	ENST00000316407	7/7	226	213	13	185	185	0	strelka-varscan-mutect	USF3,synonymous_variant,p.=,ENST00000316407,NM_001009899.3;USF3,synonymous_variant,p.=,ENST00000478658,;USF3,intron_variant,,ENST00000491165,;USF3,non_coding_transcript_exon_variant,,ENST00000496826,;	G	ENST00000316407	Transcript	synonymous_variant	4263/13708	3852/6738	1284/2245	S	agT/agC		1		-1	USF3	HGNC	HGNC:30494	protein_coding	YES	CCDS43133.1	ENSP00000320794	Q68DE3		UPI0004438052	NM_001009899.3			7/7		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	87	113657830	113657830	A	G	1	0	0	0	0	0	0	0	1	17567	272	10	5		5	USF3	3	113657830	Silent	SNP	A	C3N-02003_TP	55552723	113657830	84637729	69	28449											
NME9	0	.	GRCh38	chr3	138319545	138319545	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagaggctcaccacaggtTtgcaggggccacaccagcct	10	5	13	13	0	1	1	1	0	0	1	1	2	1	2	4	5	2	3	4	5	1	1	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.62A>T	p.Lys21Ile	p.K21I	ENST00000383180	5/12	249	235	14	286	286	0	strelka-varscan-mutect	NME9,missense_variant,p.Lys21Ile,ENST00000383180,NM_178130.2;NME9,missense_variant,p.Lys21Ile,ENST00000317876,;NME9,missense_variant,p.Lys43Ile,ENST00000333911,;NME9,missense_variant,p.Lys43Ile,ENST00000484930,;NME9,missense_variant,p.Lys13Ile,ENST00000474690,;NME9,missense_variant,p.Lys43Ile,ENST00000475751,;NME9,missense_variant,p.Lys21Ile,ENST00000492993,;NME9,3_prime_UTR_variant,,ENST00000488716,;NME9,non_coding_transcript_exon_variant,,ENST00000478220,;	A	ENST00000383180	Transcript	missense_variant	300/2133	62/792	21/263	K/I	aAa/aTa		1		-1	NME9	HGNC	HGNC:21343	protein_coding	YES	CCDS3099.1	ENSP00000372667	Q86XW9		UPI0000073EC5	NM_178130.2	deleterious(0)		5/12		Gene3D:3.40.30.10,Pfam_domain:PF00085,PROSITE_patterns:PS00194,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF65,Superfamily_domains:SSF52833																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	87	138319545	138319545	T	A	1	0	0	0	0	1	0	0	0	10535	1841	64	4		4	NME9	3	138319545	Missense_Mutation	SNP	T	C3N-02003_TP	24661715	138319545	59976014	70	28450											
CEP70	0	.	GRCh38	chr3	138529236	138529236	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggaggttcagcttttcacTtgaaagtgcatcaatcttag	10	15	9	7	0	4	1	3	1	1	0	4	2	4	2	0	2	2	3	0	2	3	6	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.832A>T	p.Ser278Cys	p.S278C	ENST00000264982	10/18	104	82	22	140	140	0	strelka-varscan-mutect	CEP70,missense_variant,p.Ser278Cys,ENST00000264982,NM_001288965.1,NM_024491.3;CEP70,missense_variant,p.Ser278Cys,ENST00000481834,NM_001288966.1;CEP70,missense_variant,p.Ser260Cys,ENST00000474781,NM_001288964.1;CEP70,missense_variant,p.Ser278Cys,ENST00000484888,;CEP70,missense_variant,p.Ser126Cys,ENST00000489254,NM_001288967.1;CEP70,missense_variant,p.Ser258Cys,ENST00000462419,;CEP70,missense_variant,p.Ser257Cys,ENST00000468900,;CEP70,downstream_gene_variant,,ENST00000478673,;	A	ENST00000264982	Transcript	missense_variant	1099/2732	832/1794	278/597	S/C	Agt/Tgt		1		-1	CEP70	HGNC	HGNC:29972	protein_coding	YES	CCDS3102.1	ENSP00000264982	Q8NHQ1	A0A140VJG2	UPI000013D5A3	NM_001288965.1,NM_024491.3	tolerated(0.09)		10/18		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14594,hmmpanther:PTHR14594:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	138529236	138529236	T	A	1	0	0	0	0	1	0	0	0	2980	1609	56	4		4	CEP70	3	138529236	Missense_Mutation	SNP	T	C3N-02003_TP	209691	138529236	59766323	71	28451											
DNAJB11	0	.	GRCh38	chr3	186582026	186582026	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaacgaacgctggaagtaGaaatagagcctggggtgaga	16	5	15	5	2	0	4	0	1	0	4	0	7	0	5	1	3	3	2	1	3	7	2	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.631G>C	p.Glu211Gln	p.E211Q	ENST00000439351	7/11	183	173	10	207	207	0	strelka-varscan-mutect	DNAJB11,missense_variant,p.Glu211Gln,ENST00000439351,;DNAJB11,missense_variant,p.Glu211Gln,ENST00000265028,NM_016306.5;RP11-134F2.8,missense_variant,p.Glu12Gln,ENST00000418776,;RP11-573D15.8,intron_variant,,ENST00000630178,;RP11-573D15.8,intron_variant,,ENST00000625386,;DNAJB11,non_coding_transcript_exon_variant,,ENST00000495390,;DNAJB11,downstream_gene_variant,,ENST00000464877,;	C	ENST00000439351	Transcript	missense_variant	1560/2398	631/1077	211/358	E/Q	Gaa/Caa		1		1	DNAJB11	HGNC	HGNC:14889	protein_coding	YES	CCDS3277.1	ENSP00000414398	Q9UBS4		UPI0000001BF7		deleterious(0)		7/11		hmmpanther:PTHR24078:SF206,hmmpanther:PTHR24078,Pfam_domain:PF01556,Gene3D:2.60.260.20,Superfamily_domains:SSF49493																	MODERATE	1	SNV	1			1										PASS		rs1205962470	.												C	3	2	87	186582026	186582026	G	C	1	0	0	0	0	1	0	0	0	4431	943	33	4		4	DNAJB11	3	186582026	Missense_Mutation	SNP	G	C3N-02003_TP	48052790	186582026	11713533	72	28452											
APOD	0	.	GRCh38	chr3	195573909	195573909	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attagtgagtagttggcctgGatgcagcgtccattctcaaa	10	12	11	8	1	1	1	1	1	1	0	3	2	2	2	2	2	2	3	2	2	3	4	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.186C>T	p.=	p.I62I	ENST00000343267	3/5	241	221	20	246	246	0	strelka-varscan-mutect	APOD,synonymous_variant,p.=,ENST00000343267,NM_001647.3;APOD,synonymous_variant,p.=,ENST00000421243,;APOD,synonymous_variant,p.=,ENST00000453131,;APOD,missense_variant,p.Ser103Phe,ENST00000458447,;APOD,non_coding_transcript_exon_variant,,ENST00000463719,;	A	ENST00000343267	Transcript	synonymous_variant	548/1130	186/570	62/189	I	atC/atT		1		-1	APOD	HGNC	HGNC:612	protein_coding	YES	CCDS33925.1	ENSP00000345179	P05090		UPI00000369E0	NM_001647.3			3/5		hmmpanther:PTHR10612,Pfam_domain:PF08212,Gene3D:2.40.128.20,PIRSF_domain:PIRSF036893,Superfamily_domains:SSF50814,Prints_domain:PR02058																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	195573909	195573909	G	A	1	0	0	0	0	0	0	0	1	923	1164	41	3		3	APOD	3	195573909	Silent	SNP	G	C3N-02003_TP	8991883	195573909	2721650	73	28453											
FGFR3	0	.	GRCh38	chr4	1805912	1805912	+	Frame_Shift_Del	DEL	G	G	-																															ctgtgcctaccaggtggcccGgggcatggagtacttggcct																										C3N-02003_TP	C3N-02003_NB	G	G																c.1817delG	p.Gly606AlafsTer22	p.G606Afs*22	ENST00000340107	13/18	75	65	10	61	61	0	sindel-varindel-pindel	FGFR3,frameshift_variant,p.Gly606AlafsTer22,ENST00000340107,NM_001163213.1;FGFR3,frameshift_variant,p.Gly604AlafsTer22,ENST00000440486,NM_000142.4;FGFR3,frameshift_variant,p.Gly605AlafsTer22,ENST00000481110,;FGFR3,frameshift_variant,p.Gly604AlafsTer22,ENST00000260795,;FGFR3,frameshift_variant,p.Gly492AlafsTer22,ENST00000412135,NM_022965.3;FGFR3,frameshift_variant,p.Gly492AlafsTer22,ENST00000352904,;FGFR3,3_prime_UTR_variant,,ENST00000613647,;FGFR3,downstream_gene_variant,,ENST00000507588,;FGFR3,downstream_gene_variant,,ENST00000474521,;FGFR3,downstream_gene_variant,,ENST00000469068,;	-	ENST00000340107	Transcript	frameshift_variant	2070/4293	1814/2427	605/808	R/X	cGg/cg	COSM2156094,COSM2156095	1		1	FGFR3	HGNC	HGNC:3690	protein_coding	YES	CCDS54706.1	ENSP00000339824	P22607		UPI000002A9AC	NM_001163213.1			13/18		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF353,SMART_domains:SM00219,Superfamily_domains:SSF56112											1,1						HIGH	1	deletion	5	3	1,1	1										PASS		.	.												-	7	5	87	1805912	1805912	G	-	1	0	1	0	1	0	0	0	0	5731	1116	39	0		0	FGFR3	4	1805912	Frame_Shift_Del	DEL	G	C3N-02003_TP		1805912	188408643	74	28454											
HTT	0	.	GRCh38	chr4	3074846	3074846	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcgaccctggaaaagctGatgaaggccttcgagtccct	10	8	12	11	2	0	2	0	2	0	0	2	5	1	3	3	3	1	1	3	3	3	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.21G>A	p.=	p.L7L	ENST00000355072	1/67	331	312	19	364	364	0	strelka-varscan-mutect	HTT,synonymous_variant,p.=,ENST00000355072,NM_002111.7;HTT-AS,upstream_gene_variant,,ENST00000503893,;HTT-AS1_2,downstream_gene_variant,,ENST00000621529,;	A	ENST00000355072	Transcript	synonymous_variant	166/13474	21/9429	7/3142	L	ctG/ctA		1		1	HTT	HGNC	HGNC:4851	protein_coding	YES	CCDS43206.1	ENSP00000347184	P42858		UPI000013D567	NM_002111.7			1/67																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	3074846	3074846	G	A	1	0	0	0	0	0	0	0	1	7353	1277	45	3		3	HTT	4	3074846	Silent	SNP	G	C3N-02003_TP	1268934	3074846	187139709	75	28455											
DTHD1	0	.	GRCh38	chr4	36308267	36308267	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggttacttttgtgaaatcTttagaggaagccatgctcag	10	15	10	6	0	2	2	1	1	1	1	2	3	2	3	1	2	3	2	1	2	4	6			C3N-02003_TP	C3N-02003_NB	T	T																c.1494T>G	p.=	p.S498S	ENST00000456874	6/9	170	155	15	211	211	0	strelka-varscan-mutect	DTHD1,synonymous_variant,p.=,ENST00000456874,NM_001170700.2;DTHD1,synonymous_variant,p.=,ENST00000357504,NM_001136536.4;DTHD1,synonymous_variant,p.=,ENST00000507598,;RP11-431M7.2,downstream_gene_variant,,ENST00000504344,;	G	ENST00000456874	Transcript	synonymous_variant	1552/3365	1494/2346	498/781	S	tcT/tcG	COSM1429503,COSM1429504	1		1	DTHD1	HGNC	HGNC:37261	protein_coding	YES	CCDS54754.1	ENSP00000401597	Q6ZMT9		UPI00006C079E	NM_001170700.2			6/9													1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												G	2	3	87	36308267	36308267	T	G	1	0	0	0	0	0	0	0	1	4609	1596	56	5		5	DTHD1	4	36308267	Silent	SNP	T	C3N-02003_TP	33233421	36308267	153906288	76	28456											
POLR2B	0	.	GRCh38	chr4	57024896	57024896	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttaaaaggtatcggctaAcaagggtgaaattggtgatg	13	13	12	3	1	0	2	0	2	0	0	1	2	0	2	0	4	1	2	0	4	6	6	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.2975A>C	p.Asn992Thr	p.N992T	ENST00000381227	23/26	139	128	11	228	228	0	strelka-varscan-mutect	POLR2B,missense_variant,p.Asn992Thr,ENST00000381227,;POLR2B,missense_variant,p.Asn985Thr,ENST00000441246,NM_001303269.1;POLR2B,missense_variant,p.Asn992Thr,ENST00000314595,NM_000938.2;POLR2B,missense_variant,p.Asn917Thr,ENST00000431623,NM_001303268.1;POLR2B,non_coding_transcript_exon_variant,,ENST00000478188,;POLR2B,non_coding_transcript_exon_variant,,ENST00000484821,;POLR2B,downstream_gene_variant,,ENST00000464918,;	C	ENST00000381227	Transcript	missense_variant	3388/4108	2975/3525	992/1174	N/T	aAc/aCc		1		1	POLR2B	HGNC	HGNC:9188	protein_coding	YES	CCDS3511.1	ENSP00000370625	P30876		UPI00001345D1		deleterious(0.03)		23/26		hmmpanther:PTHR20856:SF7,hmmpanther:PTHR20856,Pfam_domain:PF00562,Gene3D:2a6hC01,Superfamily_domains:SSF64484																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	87	57024896	57024896	A	C	1	0	0	0	0	1	0	0	0	12325	43	2	5		5	POLR2B	4	57024896	Missense_Mutation	SNP	A	C3N-02003_TP	20716629	57024896	133189659	77	28457											
CCDC158	0	.	GRCh38	chr4	76369623	76369623	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcccttttgtgtagatcagCctaaaaaaagagaggaatgc	14	10	9	8	0	1	2	1	0	0	2	2	4	2	3	2	1	2	1	2	1	6	4			C3N-02003_TP	C3N-02003_NB	C	C																c.1150G>C	p.Ala384Pro	p.A384P	ENST00000388914	10/24	223	200	23	178	178	0	strelka-varscan-mutect	CCDC158,missense_variant,p.Ala384Pro,ENST00000388914,NM_001042784.1;CCDC158,upstream_gene_variant,,ENST00000504667,;	G	ENST00000388914	Transcript	missense_variant,splice_region_variant	1303/3663	1150/3342	384/1113	A/P	Gct/Cct	COSM734644	1		-1	CCDC158	HGNC	HGNC:26374	protein_coding	YES	CCDS43242.1	ENSP00000373566	Q5M9N0		UPI00004DF23B	NM_001042784.1	deleterious(0.02)		10/24		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15921,hmmpanther:PTHR13140,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	5		1	1										PASS		.	.												G	3	3	87	76369623	76369623	C	G	1	0	0	0	0	1	0	0	0	2478	753	26	4		4	CCDC158	4	76369623	Missense_Mutation	SNP	C	C3N-02003_TP	19344727	76369623	113844932	78	28458											
SHROOM3	0	.	GRCh38	chr4	76754890	76754890	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccaagtttatgcagcacTtctgacccagacacacctct	10	11	5	15	0	2	2	0	1	2	1	3	2	3	2	3	0	2	3	3	0	2	4	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.4407T>C	p.=	p.T1469T	ENST00000296043	7/11	393	370	23	384	383	1	strelka-varscan-mutect	SHROOM3,synonymous_variant,p.=,ENST00000296043,NM_020859.3;RP11-359D14.2,downstream_gene_variant,,ENST00000452412,;RP11-359D14.3,downstream_gene_variant,,ENST00000449007,;SHROOM3,downstream_gene_variant,,ENST00000469923,;	C	ENST00000296043	Transcript	synonymous_variant	5360/11020	4407/5991	1469/1996	T	acT/acC		1		1	SHROOM3	HGNC	HGNC:30422	protein_coding	YES	CCDS3579.2	ENSP00000296043	Q8TF72		UPI0000E5AC1C	NM_020859.3			7/11		hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	87	76754890	76754890	T	C	1	0	0	0	0	0	0	0	1	14558	1596	56	5		5	SHROOM3	4	76754890	Silent	SNP	T	C3N-02003_TP	385267	76754890	113459665	79	28459											
HNRNPD	0	.	GRCh38	chr4	82373569	82373570	+	Frame_Shift_Ins	INS	-	-	C																															gcttcccgccgccgccgctgINSccccctgtgtcgccgccacc																								novel		C3N-02003_TP	C3N-02003_NB	-	-																c.109dupG	p.Ala37GlyfsTer33	p.A37Gfs*33	ENST00000313899	1/9	238	214	24	265	265	0	varindel-pindel	HNRNPD,frameshift_variant,p.Ala37GlyfsTer33,ENST00000313899,NM_031370.2;HNRNPD,frameshift_variant,p.Ala37GlyfsTer33,ENST00000352301,NM_031369.2;HNRNPD,frameshift_variant,p.Ala37GlyfsTer33,ENST00000353341,NM_001003810.1,NM_002138.3;HNRNPD,frameshift_variant,p.Ala37GlyfsTer33,ENST00000507010,;HNRNPD,frameshift_variant,p.Ala37GlyfsTer33,ENST00000503822,;HNRNPD,intron_variant,,ENST00000509107,;HNRNPD,intron_variant,,ENST00000515432,;HNRNPD,upstream_gene_variant,,ENST00000509263,;RP11-127B20.3,upstream_gene_variant,,ENST00000609575,;RP11-127B20.3,upstream_gene_variant,,ENST00000609552,;HNRNPD,frameshift_variant,p.Ala37GlyfsTer33,ENST00000513584,;	C	ENST00000313899	Transcript	frameshift_variant	387-388/3033	109-110/1068	37/355	A/GX	gca/gGca		1		-1	HNRNPD	HGNC	HGNC:5036	protein_coding	YES	CCDS3592.1	ENSP00000313199	Q14103	A0A024RDF3	UPI0000000C3F	NM_031370.2			1/9		Low_complexity_(Seg):seg,Pfam_domain:PF08143																	HIGH	1	insertion	1			1										PASS		.	.												C	7	5	87	82373569	82373569	-	C	1	0	1	1	0	0	0	0	0	7157	1319	46	0		0	HNRNPD	4	82373569	Frame_Shift_Ins	INS	-	C3N-02003_TP	5618679	82373569	107840986	80	28460											
HELQ	0	.	GRCh38	chr4	83416792	83416792	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgatcaattgtccttacgAgcacttcaggatttgcatta	12	14	7	8	1	2	1	2	1	0	0	3	3	3	2	1	1	3	2	1	1	4	5	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.3137T>C	p.Leu1046Pro	p.L1046P	ENST00000295488	17/18	129	122	7	176	175	1	strelka-varscan-mutect	HELQ,missense_variant,p.Leu1046Pro,ENST00000295488,NM_133636.3;HELQ,missense_variant,p.Leu979Pro,ENST00000510985,NM_001297756.1,NM_001297755.1,NM_001297757.1;HELQ,intron_variant,,ENST00000512539,;HELQ,3_prime_UTR_variant,,ENST00000508591,;	G	ENST00000295488	Transcript	missense_variant	3300/3579	3137/3306	1046/1101	L/P	cTc/cCc		1		-1	HELQ	HGNC	HGNC:18536	protein_coding	YES	CCDS3603.1	ENSP00000295488	Q8TDG4		UPI000013E25F	NM_133636.3	deleterious(0)		17/18		Gene3D:1.10.150.20,Superfamily_domains:SSF158702																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	83416792	83416792	A	G	1	0	0	0	0	1	0	0	0	6929	304	11	5		5	HELQ	4	83416792	Missense_Mutation	SNP	A	C3N-02003_TP	1043223	83416792	106797763	81	28461											
TET2	0	.	GRCh38	chr4	105235847	105235847	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaagtcacaaatgtaccaAgttgaaatgaatcaagggca	18	7	8	8	0	2	2	2	2	0	0	2	2	2	2	1	1	1	3	1	1	7	2	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.1905A>C	p.Gln635His	p.Q635H	ENST00000540549	3/11	279	254	25	287	287	0	strelka-varscan-mutect	TET2,missense_variant,p.Gln656His,ENST00000513237,;TET2,missense_variant,p.Gln635His,ENST00000540549,;TET2,missense_variant,p.Gln635His,ENST00000380013,NM_001127208.2;TET2,missense_variant,p.Gln635His,ENST00000305737,NM_017628.4;TET2,missense_variant,p.Gln635His,ENST00000413648,;TET2,downstream_gene_variant,,ENST00000514870,;TET2,missense_variant,p.Gln635His,ENST00000265149,;	C	ENST00000540549	Transcript	missense_variant	2765/10166	1905/6009	635/2002	Q/H	caA/caC		1		1	TET2	HGNC	HGNC:25941	protein_coding	YES	CCDS47120.1	ENSP00000442788	Q6N021	A0A158SIU0	UPI00001D75E4		tolerated(0.23)		3/11		hmmpanther:PTHR23358:SF3,hmmpanther:PTHR23358																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	105235847	105235847	A	C	1	0	0	0	0	1	0	0	0	16191	69	3	5		5	TET2	4	105235847	Missense_Mutation	SNP	A	C3N-02003_TP	21819055	105235847	84978708	82	28462											
KIAA1109	0	.	GRCh38	chr4	122258836	122258836	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatagtgactctgcattaaAaataaaggtatattattgct	15	14	6	6	0	1	1	0	1	1	0	1	1	1	1	1	1	2	3	1	1	9	7	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.6755A>C	p.Lys2252Thr	p.K2252T	ENST00000264501	42/86	71	61	10	87	87	0	strelka-varscan-mutect	KIAA1109,missense_variant,p.Lys2252Thr,ENST00000264501,;KIAA1109,missense_variant,p.Lys2252Thr,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Lys210Thr,ENST00000419325,;KIAA1109,missense_variant,p.Lys825Thr,ENST00000446180,;	C	ENST00000264501	Transcript	missense_variant	7128/15896	6755/15018	2252/5005	K/T	aAa/aCa		1		1	KIAA1109	HGNC	HGNC:26953	protein_coding	YES	CCDS43267.1	ENSP00000264501	Q2LD37		UPI0000DD87B4		tolerated(0.1)		42/86		hmmpanther:PTHR31640:SF1,hmmpanther:PTHR31640																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	87	122258836	122258836	A	C	1	0	0	0	0	1	0	0	0	8101	14	1	5		5	KIAA1109	4	122258836	Missense_Mutation	SNP	A	C3N-02003_TP	17022989	122258836	67955719	83	28463											
FAT4	0	.	GRCh38	chr4	125321388	125321388	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctagccccagaggatcTgaggccccagtggagtatta	10	7	13	11	0	1	2	0	1	1	1	1	4	1	4	4	3	2	3	4	3	3	3	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.4977T>C	p.=	p.S1659S	ENST00000394329	1/17	109	99	10	129	129	0	strelka-varscan-mutect	FAT4,synonymous_variant,p.=,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;	C	ENST00000394329	Transcript	synonymous_variant	4990/16123	4977/14946	1659/4981	S	tcT/tcC		1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4			1/17		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	87	125321388	125321388	T	C	1	0	0	0	0	0	0	0	1	5552	1567	55	5		5	FAT4	4	125321388	Silent	SNP	T	C3N-02003_TP	3062552	125321388	64893167	84	28464											
PLK4	0	.	GRCh38	chr4	127896804	127896804	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttattatttttctagttaActagtggagctgtgtgggtt	7	19	11	4	0	1	0	0	0	1	0	1	1	1	1	0	2	2	4	0	2	5	8	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.2707A>C	p.Thr903Pro	p.T903P	ENST00000270861	15/16	126	114	12	176	176	0	strelka-mutect	PLK4,missense_variant,p.Thr903Pro,ENST00000270861,NM_014264.4;PLK4,missense_variant,p.Thr825Pro,ENST00000515069,;PLK4,missense_variant,p.Thr842Pro,ENST00000507249,;PLK4,missense_variant,p.Thr871Pro,ENST00000513090,NM_001190799.1;PLK4,missense_variant,p.Thr862Pro,ENST00000514379,NM_001190801.1;PLK4,missense_variant,p.Thr149Pro,ENST00000508113,;RNU6-583P,downstream_gene_variant,,ENST00000516012,;PLK4,non_coding_transcript_exon_variant,,ENST00000510192,;PLK4,downstream_gene_variant,,ENST00000507454,;	C	ENST00000270861	Transcript	missense_variant	2981/3841	2707/2913	903/970	T/P	Act/Cct		1		1	PLK4	HGNC	HGNC:11397	protein_coding	YES	CCDS3735.1	ENSP00000270861	O00444		UPI000007426E	NM_014264.4	deleterious(0.03)		15/16		Pfam_domain:PF00659,PROSITE_profiles:PS50078,hmmpanther:PTHR24345,hmmpanther:PTHR24345:SF50,Superfamily_domains:SSF82615																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	127896804	127896804	A	C	1	0	0	0	0	1	0	0	0	12193	57	2	5		5	PLK4	4	127896804	Missense_Mutation	SNP	A	C3N-02003_TP	2575416	127896804	62317751	85	28465											
CLGN	0	.	GRCh38	chr4	140396108	140396108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaccagtcatcaggtttttCagcattaggatcagggataa	12	13	9	7	0	4	0	4	0	0	0	4	2	4	2	1	3	2	2	1	3	3	5	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.982G>A	p.Glu328Lys	p.E328K	ENST00000325617	9/15	124	117	7	189	189	0	strelka-varscan-mutect	CLGN,missense_variant,p.Glu328Lys,ENST00000325617,NM_004362.2;CLGN,missense_variant,p.Glu328Lys,ENST00000414773,NM_001130675.1;CLGN,downstream_gene_variant,,ENST00000509477,;	T	ENST00000325617	Transcript	missense_variant	1423/3043	982/1833	328/610	E/K	Gaa/Aaa		1		-1	CLGN	HGNC	HGNC:2060	protein_coding	YES	CCDS3751.1	ENSP00000326699	O14967	A0A140VKG2	UPI0000126E4A	NM_004362.2	tolerated(0.39)		9/15		hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF7,PROSITE_patterns:PS00805,Gene3D:2.60.120.200,Pfam_domain:PF00262,Superfamily_domains:SSF63887,Prints_domain:PR00626																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	140396108	140396108	C	T	1	0	0	0	0	1	0	0	0	3292	835	29	3		3	CLGN	4	140396108	Missense_Mutation	SNP	C	C3N-02003_TP	12499304	140396108	49818447	86	28466											
TLR3	0	.	GRCh38	chr4	186082851	186082851	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacttaagtctatccaacTcctttacaagtttgcgaact	13	14	4	10	1	1	0	0	0	1	0	3	1	3	0	2	0	5	1	2	0	8	6	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1165T>C	p.Ser389Pro	p.S389P	ENST00000296795	4/5	71	65	6	112	111	1	strelka-varscan-mutect	TLR3,missense_variant,p.Ser389Pro,ENST00000296795,NM_003265.2;TLR3,missense_variant,p.Ser112Pro,ENST00000504367,;TLR3,missense_variant,p.Ser325Pro,ENST00000513189,;TLR3,downstream_gene_variant,,ENST00000508051,;TLR3,non_coding_transcript_exon_variant,,ENST00000512264,;	C	ENST00000296795	Transcript	missense_variant	1269/6015	1165/2715	389/904	S/P	Tcc/Ccc		1		1	TLR3	HGNC	HGNC:11849	protein_coding	YES	CCDS3846.1	ENSP00000296795	O15455		UPI0000049B3E	NM_003265.2	deleterious(0.02)		4/5		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF5,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	186082851	186082851	T	C	1	0	0	0	0	1	0	0	0	16398	1551	54	5		5	TLR3	4	186082851	Missense_Mutation	SNP	T	C3N-02003_TP	45686743	186082851	4131704	87	28467											
SDHA	0	.	GRCh38	chr5	226006	226006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcggtgctgctgtgtggctGatcggactggccactcgcta	5	11	14	11	3	0	1	0	1	0	0	3	2	0	2	1	4	2	4	1	4	1	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.580G>C	p.Asp194His	p.D194H	ENST00000264932	5/15	518	469	49	412	409	3	strelka-varscan-mutect	SDHA,missense_variant,p.Asp194His,ENST00000264932,NM_004168.3;SDHA,missense_variant,p.Asp146His,ENST00000510361,NM_001294332.1;SDHA,missense_variant,p.Asp194His,ENST00000504309,;SDHA,intron_variant,,ENST00000617470,;SDHA,upstream_gene_variant,,ENST00000514233,;SDHA,non_coding_transcript_exon_variant,,ENST00000505555,;SDHA,non_coding_transcript_exon_variant,,ENST00000504824,;SDHA,non_coding_transcript_exon_variant,,ENST00000509420,;SDHA,upstream_gene_variant,,ENST00000514027,;SDHA,upstream_gene_variant,,ENST00000515752,;SDHA,upstream_gene_variant,,ENST00000512962,;SDHA,downstream_gene_variant,,ENST00000502379,;SDHA,downstream_gene_variant,,ENST00000509632,;	C	ENST00000264932	Transcript	missense_variant	695/2390	580/1995	194/664	D/H	Gat/Cat		1		1	SDHA	HGNC	HGNC:10680	protein_coding	YES	CCDS3853.1	ENSP00000264932	P31040	A0A024QZ30	UPI0000000C2C	NM_004168.3	deleterious_low_confidence(0)		5/15		Gene3D:3.50.50.60,Pfam_domain:PF00890,PIRSF_domain:PIRSF000171,hmmpanther:PTHR11632,hmmpanther:PTHR11632:SF51,Superfamily_domains:SSF51905,TIGRFAM_domain:TIGR01812,TIGRFAM_domain:TIGR01816																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	226006	226006	G	C	1	0	0	0	0	1	0	0	0	14235	1290	45	4		4	SDHA	5	226006	Missense_Mutation	SNP	G	C3N-02003_TP		226006	181312253	88	28468											
CEP72	0	.	GRCh38	chr5	639178	639178	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcttggacctggtggacagGagctggggcggctgcaggtc	5	8	18	10	1	1	0	0	0	1	0	2	3	1	3	1	8	2	3	1	8	0	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1296G>A	p.=	p.R432R	ENST00000264935	8/12	89	83	6	86	86	0	strelka-varscan-mutect	CEP72,synonymous_variant,p.=,ENST00000264935,NM_018140.3;CEP72,upstream_gene_variant,,ENST00000512038,;	A	ENST00000264935	Transcript	synonymous_variant	1386/2434	1296/1944	432/647	R	agG/agA		1		1	CEP72	HGNC	HGNC:25547	protein_coding	YES	CCDS34126.1	ENSP00000264935	Q9P209		UPI0000072FB8	NM_018140.3			8/12		hmmpanther:PTHR23311,hmmpanther:PTHR23311:SF7																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	639178	639178	G	A	1	0	0	0	0	0	0	0	1	2981	1165	41	3		3	CEP72	5	639178	Silent	SNP	G	C3N-02003_TP	413172	639178	180899081	89	28469											
PDZD2	0	.	GRCh38	chr5	32090136	32090136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccatgccagcccagttcTcaagccattttggacgggag	9	9	10	13	1	1	0	1	0	1	0	3	2	2	2	4	2	3	1	4	2	1	3	rs762388229		C3N-02003_TP	C3N-02003_NB	T	T																c.6688T>C	p.Ser2230Pro	p.S2230P	ENST00000438447	20/25	132	125	7	107	107	0	strelka-varscan-mutect	PDZD2,missense_variant,p.Ser2230Pro,ENST00000438447,NM_178140.2;	C	ENST00000438447	Transcript	missense_variant	7076/11704	6688/8520	2230/2839	S/P	Tca/Cca	rs762388229	1		1	PDZD2	HGNC	HGNC:18486	protein_coding	YES	CCDS34137.1	ENSP00000402033	O15018	A0A024RE15	UPI000069648B	NM_178140.2	tolerated(0.08)		20/25		hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF16																	MODERATE	1	SNV	1			1										PASS		rs762388229	.												C	3	2	87	32090136	32090136	T	C	1	0	0	0	0	1	0	0	0	11789	1551	54	5		5	PDZD2	5	32090136	Missense_Mutation	SNP	T	C3N-02003_TP	31450958	32090136	149448123	90	28470											
TARS	0	.	GRCh38	chr5	33460915	33460915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcagccttatgtttgatCatcggccaaggtcctggcga	7	13	10	11	2	3	1	2	1	1	0	5	2	4	1	3	3	1	1	3	3	2	3	rs756937101		C3N-02003_TP	C3N-02003_NB	C	C																c.1363C>T	p.His455Tyr	p.H455Y	ENST00000455217	13/20	179	161	18	155	154	1	strelka-varscan-mutect	TARS,missense_variant,p.His422Tyr,ENST00000265112,NM_152295.4;TARS,missense_variant,p.His422Tyr,ENST00000502553,NM_001258437.1;TARS,missense_variant,p.His455Tyr,ENST00000455217,NM_001258438.1;TARS,upstream_gene_variant,,ENST00000509410,;TARS,3_prime_UTR_variant,,ENST00000508361,;TARS,3_prime_UTR_variant,,ENST00000507716,;TARS,3_prime_UTR_variant,,ENST00000509731,;TARS,downstream_gene_variant,,ENST00000504698,;	T	ENST00000455217	Transcript	missense_variant	1485/2523	1363/2271	455/756	H/Y	Cat/Tat	rs756937101,COSM4465025	1		1	TARS	HGNC	HGNC:11572	protein_coding	YES	CCDS58943.1	ENSP00000387710	P26639		UPI00017A6D60	NM_001258438.1	deleterious(0.02)		13/20		PROSITE_profiles:PS50862,HAMAP:MF_00184,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF36,TIGRFAM_domain:TIGR00418,Gene3D:3.30.930.10,Pfam_domain:PF00587,Superfamily_domains:SSF55681,Prints_domain:PR01047											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs756937101	.												T	3	4	87	33460915	33460915	C	T	1	0	0	0	0	1	0	0	0	15958	826	29	3		3	TARS	5	33460915	Missense_Mutation	SNP	C	C3N-02003_TP	1370779	33460915	148077344	91	28471											
LIFR	0	.	GRCh38	chr5	38510633	38510633	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgctgataacactttttcTtgactcacacaacaaaatgt	14	13	5	9	0	2	2	1	2	1	0	2	2	2	2	0	0	3	1	0	0	4	4	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.822A>C	p.Gln274His	p.Q274H	ENST00000263409	7/20	147	133	14	238	237	1	strelka-varscan-mutect	LIFR,missense_variant,p.Gln274His,ENST00000263409,NM_002310.5;LIFR,missense_variant,p.Gln274His,ENST00000453190,NM_001127671.1;LIFR,non_coding_transcript_exon_variant,,ENST00000503088,;	G	ENST00000263409	Transcript	missense_variant	985/10089	822/3294	274/1097	Q/H	caA/caC		1		-1	LIFR	HGNC	HGNC:6597	protein_coding	YES	CCDS3927.1	ENSP00000263409	P42702		UPI000004CAC2	NM_002310.5	tolerated(0.09)		7/20		hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF105																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	38510633	38510633	T	G	1	0	0	0	0	1	0	0	0	8689	1606	56	5		5	LIFR	5	38510633	Missense_Mutation	SNP	T	C3N-02003_TP	5049718	38510633	143027626	92	28472											
ERCC8	0	.	GRCh38	chr5	60898389	60898389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccattaactttcccattatGagcagtgtttgctgcaatga	10	14	8	9	0	0	2	0	2	0	0	1	2	1	2	2	0	4	4	2	0	3	4	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.730C>T	p.His244Tyr	p.H244Y	ENST00000265038	9/12	164	153	11	357	356	1	strelka-varscan-mutect	ERCC8,missense_variant,p.His244Tyr,ENST00000265038,NM_000082.3,NM_001290285.1,NM_001007233.2;ERCC8,downstream_gene_variant,,ENST00000439176,;ERCC8,non_coding_transcript_exon_variant,,ENST00000462279,;ERCC8,non_coding_transcript_exon_variant,,ENST00000495985,;ERCC8,non_coding_transcript_exon_variant,,ENST00000484330,;ERCC8,3_prime_UTR_variant,,ENST00000381118,;ERCC8,downstream_gene_variant,,ENST00000497892,;GNL3LP1,upstream_gene_variant,,ENST00000399458,;	A	ENST00000265038	Transcript	missense_variant	773/2017	730/1191	244/396	H/Y	Cat/Tat		1		-1	ERCC8	HGNC	HGNC:3439	protein_coding	YES	CCDS3978.1	ENSP00000265038	Q13216		UPI000000D8F8	NM_000082.3,NM_001290285.1,NM_001007233.2	deleterious(0)		9/12		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22850,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	60898389	60898389	G	A	1	0	0	0	0	1	0	0	0	5069	1290	45	3		3	ERCC8	5	60898389	Missense_Mutation	SNP	G	C3N-02003_TP	22387756	60898389	120639870	93	28473											
BDP1	0	.	GRCh38	chr5	71541637	71541637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaaagttccagagaagAaataagtttaatggagaaag	20	7	11	3	0	0	3	0	0	0	3	1	6	1	4	1	2	1	2	1	2	7	4	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.6206A>G	p.Glu2069Gly	p.E2069G	ENST00000358731	29/39	70	66	4	104	104	0	varscan-mutect	BDP1,missense_variant,p.Glu2069Gly,ENST00000358731,NM_018429.2;BDP1,missense_variant,p.Glu325Gly,ENST00000514903,;BDP1,missense_variant,p.Glu91Gly,ENST00000525844,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;HMGN1P12,upstream_gene_variant,,ENST00000499125,;	G	ENST00000358731	Transcript	missense_variant	6469/11073	6206/7875	2069/2624	E/G	gAa/gGa		1		1	BDP1	HGNC	HGNC:13652	protein_coding	YES	CCDS43328.1	ENSP00000351575	A6H8Y1		UPI000020CA90	NM_018429.2	deleterious(0.04)		29/39		hmmpanther:PTHR22929:SF1,hmmpanther:PTHR22929																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	71541637	71541637	A	G	1	0	0	0	0	1	0	0	0	1542	246	9	5		5	BDP1	5	71541637	Missense_Mutation	SNP	A	C3N-02003_TP	10643248	71541637	109996622	94	28474											
ARHGEF28	0	.	GRCh38	chr5	73752958	73752958	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtgtgcctctgctcggaAggttactctccggtgaccat	5	13	11	12	2	3	1	0	1	3	0	5	2	3	2	3	3	3	2	3	3	2	1	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.231A>C	p.Glu77Asp	p.E77D	ENST00000545377	4/37	408	387	21	339	338	1	strelka-varscan-mutect	ARHGEF28,missense_variant,p.Glu77Asp,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Glu77Asp,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Glu77Asp,ENST00000426542,;ARHGEF28,missense_variant,p.Glu77Asp,ENST00000437974,;ARHGEF28,missense_variant,p.Glu77Asp,ENST00000296794,;ARHGEF28,missense_variant,p.Glu77Asp,ENST00000509848,;	C	ENST00000545377	Transcript	missense_variant	407/6351	231/5196	77/1731	E/D	gaA/gaC		1		1	ARHGEF28	HGNC	HGNC:30322	protein_coding	YES	CCDS47231.2	ENSP00000441913	Q8N1W1		UPI00004DF58E	NM_001080479.2	tolerated(0.12)		4/37		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF133																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	87	73752958	73752958	A	C	1	0	0	0	0	1	0	0	0	1036	69	3	5		5	ARHGEF28	5	73752958	Missense_Mutation	SNP	A	C3N-02003_TP	2211321	73752958	107785301	95	28475											
ACOT12	0	.	GRCh38	chr5	81345957	81345957	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtagatggtccccggaacTtaaacatatctacggacttc	11	11	8	11	2	1	1	0	0	1	1	3	3	2	3	2	3	3	1	2	3	6	5	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.701A>C	p.Lys234Thr	p.K234T	ENST00000307624	7/15	311	292	19	352	352	0	strelka-varscan-mutect	ACOT12,missense_variant,p.Lys234Thr,ENST00000307624,NM_130767.2;ACOT12,upstream_gene_variant,,ENST00000508234,;	G	ENST00000307624	Transcript	missense_variant	730/2086	701/1668	234/555	K/T	aAg/aCg		1		-1	ACOT12	HGNC	HGNC:24436	protein_coding	YES	CCDS4055.1	ENSP00000303246	Q8WYK0		UPI0000126D7B	NM_130767.2	tolerated(0.15)		7/15		Gene3D:3.10.129.10,Pfam_domain:PF03061,PROSITE_profiles:PS51770,hmmpanther:PTHR11049,hmmpanther:PTHR11049:SF3,Superfamily_domains:SSF54637																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	81345957	81345957	T	G	1	0	0	0	0	1	0	0	0	192	1609	56	5		5	ACOT12	5	81345957	Missense_Mutation	SNP	T	C3N-02003_TP	7592999	81345957	100192302	96	28476											
TTC37	0	.	GRCh38	chr5	95503931	95503931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagctttatcatattcacCagtggaactaagaagtaaag	16	11	8	6	0	2	1	2	0	0	1	2	3	2	2	1	1	2	2	1	1	8	7	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.3100G>A	p.Gly1034Ser	p.G1034S	ENST00000358746	31/43	221	209	12	288	288	0	strelka-varscan-mutect	TTC37,missense_variant,p.Gly1034Ser,ENST00000358746,NM_014639.3;TTC37,downstream_gene_variant,,ENST00000515176,;TTC37,non_coding_transcript_exon_variant,,ENST00000508181,;TTC37,non_coding_transcript_exon_variant,,ENST00000512026,;TTC37,downstream_gene_variant,,ENST00000507805,;	T	ENST00000358746	Transcript	missense_variant	3399/5706	3100/4695	1034/1564	G/S	Ggt/Agt		1		-1	TTC37	HGNC	HGNC:23639	protein_coding	YES	CCDS4072.1	ENSP00000351596	Q6PGP7		UPI00000709BD	NM_014639.3	deleterious(0.01)		31/43		Gene3D:1.25.40.10,hmmpanther:PTHR15704,hmmpanther:PTHR15704:SF7,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	95503931	95503931	C	T	1	0	0	0	0	1	0	0	0	17214	594	21	3		3	TTC37	5	95503931	Missense_Mutation	SNP	C	C3N-02003_TP	14157974	95503931	86034328	97	28477											
PJA2	0	.	GRCh38	chr5	109379075	109379075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctcagagtgattatgaaGatttgtactgcttcctaagg	10	14	9	8	0	1	4	1	2	0	2	3	4	3	4	2	1	2	2	2	1	4	5	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.412C>T	p.Leu138Phe	p.L138F	ENST00000361189	4/10	144	133	11	171	171	0	strelka-varscan-mutect	PJA2,missense_variant,p.Leu138Phe,ENST00000361189,NM_014819.4;PJA2,missense_variant,p.Leu138Phe,ENST00000361557,;PJA2,downstream_gene_variant,,ENST00000511624,;PJA2,downstream_gene_variant,,ENST00000512822,;	A	ENST00000361189	Transcript	missense_variant	652/4889	412/2127	138/708	L/F	Ctt/Ttt		1		-1	PJA2	HGNC	HGNC:17481	protein_coding	YES	CCDS4099.1	ENSP00000354775	O43164		UPI000013D192	NM_014819.4	tolerated(0.71)		4/10		hmmpanther:PTHR15710,hmmpanther:PTHR15710:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	109379075	109379075	G	A	1	0	0	0	0	1	0	0	0	12058	942	33	3		3	PJA2	5	109379075	Missense_Mutation	SNP	G	C3N-02003_TP	13875144	109379075	72159184	98	28478											
JADE2	0	.	GRCh38	chr5	134566272	134566272	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgtaatgagcccacatctGagcccacggaacccagccag	12	4	9	16	2	1	2	0	2	1	0	1	3	1	3	4	1	4	1	4	1	2	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1126G>C	p.Glu376Gln	p.E376Q	ENST00000282605	9/12	375	344	31	327	326	1	strelka-varscan-mutect	JADE2,missense_variant,p.Glu376Gln,ENST00000395003,NM_015288.5;JADE2,missense_variant,p.Glu376Gln,ENST00000361895,NM_001289984.1;JADE2,missense_variant,p.Glu376Gln,ENST00000402835,;JADE2,missense_variant,p.Glu376Gln,ENST00000282605,NM_001308143.1,NM_001289985.1;JADE2,downstream_gene_variant,,ENST00000431355,;JADE2,non_coding_transcript_exon_variant,,ENST00000470876,;	C	ENST00000282605	Transcript	missense_variant	1212/2748	1126/2505	376/834	E/Q	Gag/Cag		1		1	JADE2	HGNC	HGNC:22984	protein_coding	YES	CCDS78061.1	ENSP00000282605		G3XAA4	UPI00000437CA	NM_001308143.1,NM_001289985.1	tolerated(0.48)		9/12		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF84																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	87	134566272	134566272	G	C	1	0	0	0	0	1	0	0	0	7845	1291	45	4		4	JADE2	5	134566272	Missense_Mutation	SNP	G	C3N-02003_TP	25187197	134566272	46971987	99	28479											
SEC24A	0	.	GRCh38	chr5	134697191	134697191	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggactgttctggtcagcaAgttgctgttgacttattcct	6	17	10	8	0	2	1	1	1	1	0	3	2	3	2	1	2	2	5	1	2	2	6	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.2052A>G	p.=	p.Q684Q	ENST00000398844	14/23	64	57	7	81	81	0	strelka-varscan-mutect	SEC24A,synonymous_variant,p.=,ENST00000398844,NM_021982.2;SEC24A,downstream_gene_variant,,ENST00000322887,NM_001252231.1;SEC24A,downstream_gene_variant,,ENST00000513123,;RNU6-1164P,downstream_gene_variant,,ENST00000364428,;	G	ENST00000398844	Transcript	synonymous_variant	2340/6299	2052/3282	684/1093	Q	caA/caG		1		1	SEC24A	HGNC	HGNC:10703	protein_coding	YES	CCDS43363.1	ENSP00000381823	O95486		UPI0000185FF9	NM_021982.2			14/23		Gene3D:3.40.50.410,Pfam_domain:PF04811,hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF1,Superfamily_domains:SSF53300																	LOW	1	SNV	2			1										PASS		.	.												G	2	3	87	134697191	134697191	A	G	1	0	0	0	0	0	0	0	1	14271	69	3	5		5	SEC24A	5	134697191	Silent	SNP	A	C3N-02003_TP	130919	134697191	46841068	100	28480											
PCDHA9	0	.	GRCh38	chr5	140850249	140850249	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagatggtgctgcggtcggTgggcgccggcgtagtggtgg	3	8	22	8	6	0	1	0	0	0	1	1	2	0	1	1	7	2	2	1	7	1	1	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1754T>C	p.Val585Ala	p.V585A	ENST00000532602	1/4	455	403	52	406	406	0	strelka-varscan-mutect	PCDHA9,missense_variant,p.Val585Ala,ENST00000378122,NM_014005.4;PCDHA9,missense_variant,p.Val585Ala,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.19,upstream_gene_variant,,ENST00000623320,;	C	ENST00000532602	Transcript	missense_variant	2787/6293	1754/2853	585/950	V/A	gTg/gCg		1		1	PCDHA9	HGNC	HGNC:8675	protein_coding	YES	CCDS54920.1	ENSP00000436042	Q9Y5H5		UPI00001273D1	NM_031857.1	tolerated_low_confidence(0.13)		1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,Gene3D:2.60.40.60,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	140850249	140850249	T	C	1	0	0	0	0	1	0	0	0	11618	1696	59	5		5	PCDHA9	5	140850249	Missense_Mutation	SNP	T	C3N-02003_TP	6153058	140850249	40688010	101	28481											
PCDHAC1	0	.	GRCh38	chr5	140927896	140927896	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgactgacgtgaacgAtcatgcccccgaactggact	10	7	13	11	3	1	3	1	3	0	0	1	7	1	5	2	3	3	0	2	3	2	0	rs571131956		C3N-02003_TP	C3N-02003_NB	A	A																c.1004A>C	p.Asp335Ala	p.D335A	ENST00000253807	1/4	402	343	59	293	293	0	strelka-varscan-mutect	PCDHAC1,missense_variant,p.Asp335Ala,ENST00000253807,NM_018898.3;PCDHAC1,missense_variant,p.Asp335Ala,ENST00000409700,NM_031882.3;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA11,intron_variant,,ENST00000398640,NM_018902.4;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA13,intron_variant,,ENST00000289272,NM_018904.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA10,intron_variant,,ENST00000307360,NM_018901.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA12,intron_variant,,ENST00000398631,NM_018903.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA13,intron_variant,,ENST00000409494,;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA11,intron_variant,,ENST00000617408,;	C	ENST00000253807	Transcript	missense_variant	1004/5299	1004/2892	335/963	D/A	gAt/gCt	rs571131956	1		1	PCDHAC1	HGNC	HGNC:8676	protein_coding	YES	CCDS4241.1	ENSP00000253807	Q9H158		UPI000013CDF7	NM_018898.3	deleterious(0)		1/4		Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF132,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs571131956	.												C	3	2	87	140927896	140927896	A	C	1	0	0	0	0	1	0	0	0	11619	333	12	5		5	PCDHAC1	5	140927896	Missense_Mutation	SNP	A	C3N-02003_TP	77647	140927896	40610363	102	28482											
PCDHB3	0	.	GRCh38	chr5	141101847	141101847	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaaccatctgtagagaatTtttacaccctagtgtcagaa	14	12	7	8	0	2	3	1	1	1	2	2	4	2	3	2	0	2	1	2	0	6	5	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1198T>C	p.Phe400Leu	p.F400L	ENST00000231130	1/1	178	159	19	180	180	0	strelka-varscan-mutect	PCDHB3,missense_variant,p.Phe400Leu,ENST00000231130,NM_018937.4;PCDHB2,downstream_gene_variant,,ENST00000194155,NM_018936.3;PCDHB2,downstream_gene_variant,,ENST00000622947,;PCDHB3,upstream_gene_variant,,ENST00000624513,;PCDHB2,downstream_gene_variant,,ENST00000624994,;AC005754.7,intron_variant,,ENST00000607216,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;	C	ENST00000231130	Transcript	missense_variant	1375/3355	1198/2391	400/796	F/L	Ttt/Ctt		1		1	PCDHB3	HGNC	HGNC:8688	protein_coding	YES	CCDS4245.1	ENSP00000231130	Q9Y5E6		UPI0003CC25DF	NM_018937.4	deleterious_low_confidence(0.02)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												C	3	2	87	141101847	141101847	T	C	1	0	0	0	0	1	0	0	0	11630	1841	64	5		5	PCDHB3	5	141101847	Missense_Mutation	SNP	T	C3N-02003_TP	173951	141101847	40436412	103	28483											
PPARGC1B	0	.	GRCh38	chr5	149835310	149835310	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctccaccagcgacccaacTtttggcaagaagagctttga	11	8	9	13	1	0	3	0	1	0	2	1	4	1	3	4	1	3	2	4	1	3	3	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1752T>G	p.=	p.T584T	ENST00000309241	7/12	216	198	18	182	181	1	strelka-varscan-mutect	PPARGC1B,synonymous_variant,p.=,ENST00000309241,NM_133263.3;PPARGC1B,synonymous_variant,p.=,ENST00000394320,;PPARGC1B,synonymous_variant,p.=,ENST00000403750,NM_001172699.1;PPARGC1B,synonymous_variant,p.=,ENST00000360453,NM_001172698.1;PPARGC1B,synonymous_variant,p.=,ENST00000434684,;	G	ENST00000309241	Transcript	synonymous_variant	1784/10568	1752/3072	584/1023	T	acT/acG		1		1	PPARGC1B	HGNC	HGNC:30022	protein_coding	YES	CCDS4298.1	ENSP00000312649	Q86YN6		UPI000006F49D	NM_133263.3			7/12		hmmpanther:PTHR15528:SF12,hmmpanther:PTHR15528																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	87	149835310	149835310	T	G	1	0	0	0	0	0	0	0	1	12410	1596	56	5		5	PPARGC1B	5	149835310	Silent	SNP	T	C3N-02003_TP	8733463	149835310	31702949	104	28484											
SLC36A1	0	.	GRCh38	chr5	151463602	151463602	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaacattggcacaggaCtcctgggactccctctggcg	9	7	12	13	1	1	0	0	0	1	0	3	2	3	2	2	5	1	2	2	5	2	1	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.193C>A	p.Leu65Ile	p.L65I	ENST00000243389	3/11	272	243	29	283	283	0	strelka-varscan-mutect	SLC36A1,missense_variant,p.Leu65Ile,ENST00000243389,NM_078483.2;SLC36A1,missense_variant,p.Leu65Ile,ENST00000520701,;SLC36A1,missense_variant,p.Leu65Ile,ENST00000521925,;SLC36A1,missense_variant,p.Leu65Ile,ENST00000616007,;SLC36A1,missense_variant,p.Leu65Ile,ENST00000429484,NM_001308151.1;SLC36A1,missense_variant,p.Leu65Ile,ENST00000520111,;SLC36A1,missense_variant,p.Leu65Ile,ENST00000517945,;SLC36A1,missense_variant,p.Leu65Ile,ENST00000519829,;SLC36A1,non_coding_transcript_exon_variant,,ENST00000521351,;	A	ENST00000243389	Transcript	missense_variant	416/5781	193/1431	65/476	L/I	Ctc/Atc		1		1	SLC36A1	HGNC	HGNC:18761	protein_coding	YES	CCDS4316.1	ENSP00000243389	Q7Z2H8		UPI00001A9D3C	NM_078483.2	tolerated(0.42)		3/11		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF188,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	151463602	151463602	C	A	1	0	0	0	0	1	0	0	0	14871	565	20	2		2	SLC36A1	5	151463602	Missense_Mutation	SNP	C	C3N-02003_TP	1628292	151463602	30074657	105	28485											
CNOT8	0	.	GRCh38	chr5	154870761	154870761	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgacacactgcactttgcaGagctgcttatgacatcagga	11	11	9	10	0	1	3	1	2	0	1	1	4	1	4	0	1	4	4	0	1	1	3	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.412G>C	p.Glu138Gln	p.E138Q	ENST00000517876	5/8	126	115	11	166	166	0	strelka-varscan-mutect	CNOT8,missense_variant,p.Glu138Gln,ENST00000517876,;CNOT8,missense_variant,p.Glu138Gln,ENST00000403027,NM_004779.5;CNOT8,missense_variant,p.Glu138Gln,ENST00000285896,NM_001301073.1;CNOT8,missense_variant,p.Glu32Gln,ENST00000521450,NM_001301082.1,NM_001301075.1;CNOT8,missense_variant,p.Glu32Gln,ENST00000521583,NM_001301077.1;CNOT8,missense_variant,p.Glu32Gln,ENST00000520671,NM_001301080.1;CNOT8,missense_variant,p.Glu32Gln,ENST00000523698,NM_001301083.1;CNOT8,missense_variant,p.Glu32Gln,ENST00000519903,;CNOT8,intron_variant,,ENST00000519404,NM_001301074.1;CNOT8,intron_variant,,ENST00000518775,;CNOT8,intron_variant,,ENST00000524105,NM_001301086.1;CNOT8,intron_variant,,ENST00000522458,;CNOT8,downstream_gene_variant,,ENST00000520472,;CNOT8,downstream_gene_variant,,ENST00000517568,;CNOT8,downstream_gene_variant,,ENST00000519211,;CNOT8,downstream_gene_variant,,ENST00000521402,;CNOT8,3_prime_UTR_variant,,ENST00000521729,;CNOT8,3_prime_UTR_variant,,ENST00000522644,;CNOT8,non_coding_transcript_exon_variant,,ENST00000522139,;	C	ENST00000517876	Transcript	missense_variant	888/2708	412/879	138/292	E/Q	Gag/Cag		1		1	CNOT8	HGNC	HGNC:9207	protein_coding	YES	CCDS4329.1	ENSP00000430493	Q9UFF9		UPI0000000E08		deleterious(0.05)		5/8		hmmpanther:PTHR10797:SF1,hmmpanther:PTHR10797,Gene3D:3.30.420.10,Superfamily_domains:SSF53098																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	87	154870761	154870761	G	C	1	0	0	0	0	1	0	0	0	3405	943	33	4		4	CNOT8	5	154870761	Missense_Mutation	SNP	G	C3N-02003_TP	3407159	154870761	26667498	106	28486											
UNC5A	0	.	GRCh38	chr5	176868944	176868944	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcacgtcgccgcagcgcctCcgctgctgtcatcgtctacg	4	8	12	17	7	2	0	1	0	1	0	5	0	3	0	3	1	3	4	3	1	1	1	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.701C>A	p.Ser234Tyr	p.S234Y	ENST00000329542	5/15	64	57	7	47	47	0	strelka-varscan-mutect	UNC5A,missense_variant,p.Ser234Tyr,ENST00000329542,NM_133369.2;UNC5A,missense_variant,p.Ser200Tyr,ENST00000509580,;UNC5A,3_prime_UTR_variant,,ENST00000513890,;	A	ENST00000329542	Transcript	missense_variant	975/3812	701/2529	234/842	S/Y	tCc/tAc		1		1	UNC5A	HGNC	HGNC:12567	protein_coding	YES	CCDS34299.1	ENSP00000332737	Q6ZN44		UPI0000047F37	NM_133369.2	deleterious(0)		5/15		Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	176868944	176868944	C	A	1	0	0	0	0	1	0	0	0	17515	855	30	2		2	UNC5A	5	176868944	Missense_Mutation	SNP	C	C3N-02003_TP	21998183	176868944	4669315	107	28487											
HK3	0	.	GRCh38	chr5	176881709	176881709	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cacctttcgatctcagagagGaacttggtcttgaagatgtc	10	12	10	9	1	2	3	1	1	2	2	5	6	2	4	1	2	1	0	1	2	2	3	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.2376C>G	p.Phe792Leu	p.F792L	ENST00000292432	17/19	216	205	11	136	136	0	strelka-varscan	HK3,missense_variant,p.Phe792Leu,ENST00000292432,NM_002115.2;UNC5A,downstream_gene_variant,,ENST00000329542,NM_133369.2;HK3,downstream_gene_variant,,ENST00000514058,;HK3,non_coding_transcript_exon_variant,,ENST00000506834,;HK3,non_coding_transcript_exon_variant,,ENST00000514666,;	C	ENST00000292432	Transcript	missense_variant	2468/3066	2376/2772	792/923	F/L	ttC/ttG		1		-1	HK3	HGNC	HGNC:4925	protein_coding	YES	CCDS4407.1	ENSP00000292432	P52790	A0A024R7R1	UPI000006E237	NM_002115.2	deleterious(0.02)		17/19		PROSITE_profiles:PS51748,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF1,Gene3D:3.40.367.20,Pfam_domain:PF03727,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	176881709	176881709	G	C	1	0	0	0	0	1	0	0	0	7081	1165	41	4		4	HK3	5	176881709	Missense_Mutation	SNP	G	C3N-02003_TP	12765	176881709	4656550	108	28488											
F12	0	.	GRCh38	chr5	177404331	177404331	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgggttggggtctggcActgtgccaggtcgcagtact	4	10	16	11	2	1	0	0	0	1	0	2	0	1	0	2	5	2	4	2	5	1	2	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.883T>C	p.Cys295Arg	p.C295R	ENST00000253496	9/14	128	114	14	77	77	0	strelka-varscan-mutect	F12,missense_variant,p.Cys295Arg,ENST00000253496,NM_000505.3;GRK6,intron_variant,,ENST00000502598,;GRK6,upstream_gene_variant,,ENST00000506296,;PFN3,upstream_gene_variant,,ENST00000358571,NM_001029886.2;F12,upstream_gene_variant,,ENST00000514943,;F12,non_coding_transcript_exon_variant,,ENST00000510358,;F12,non_coding_transcript_exon_variant,,ENST00000502854,;F12,non_coding_transcript_exon_variant,,ENST00000503736,;F12,upstream_gene_variant,,ENST00000504406,;	G	ENST00000253496	Transcript	missense_variant	932/2049	883/1848	295/615	C/R	Tgc/Cgc		1		-1	F12	HGNC	HGNC:3530	protein_coding	YES	CCDS34302.1	ENSP00000253496	P00748		UPI000048055F	NM_000505.3	deleterious(0)		9/14		Gene3D:2.40.20.10,Pfam_domain:PF00051,PIRSF_domain:PIRSF001146,Prints_domain:PR00018,PROSITE_profiles:PS50070,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF177,Low_complexity_(Seg):seg,SMART_domains:SM00130,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	177404331	177404331	A	G	1	0	0	0	0	1	0	0	0	5207	159	6	5		5	F12	5	177404331	Missense_Mutation	SNP	A	C3N-02003_TP	522622	177404331	4133928	109	28489											
ATXN1	0	.	GRCh38	chr6	16327184	16327184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacagaggcccggacccccGaaggatcacgactgctgtag	10	5	12	14	3	2	1	2	0	0	1	2	5	2	3	3	3	1	2	3	3	2	1	rs144862299		C3N-02003_TP	C3N-02003_NB	G	G																c.1127C>T	p.Ser376Leu	p.S376L	ENST00000244769	8/9	192	179	13	110	110	0	strelka-varscan-mutect	ATXN1,missense_variant,p.Ser376Leu,ENST00000244769,NM_000332.3;ATXN1,missense_variant,p.Ser376Leu,ENST00000436367,NM_001128164.1;	A	ENST00000244769	Transcript	missense_variant	2064/10602	1127/2448	376/815	S/L	tCg/tTg	rs144862299	1		-1	ATXN1	HGNC	HGNC:10548	protein_coding	YES	CCDS34342.1	ENSP00000244769	P54253		UPI000013CB8B	NM_000332.3	tolerated(0.3)		8/9		hmmpanther:PTHR13392,hmmpanther:PTHR13392:SF5,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs144862299	.												A	3	1	87	16327184	16327184	G	A	1	0	0	0	0	1	0	0	0	1362	1059	37	1		1	ATXN1	6	16327184	Missense_Mutation	SNP	G	C3N-02003_TP		16327184	154478795	110	28490											
BTN3A1	0	.	GRCh38	chr6	26405912	26405912	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccttgtgcctacagctcAgttttctgtgcttggaccct	4	14	8	15	0	2	0	1	0	1	0	2	1	2	1	4	1	4	3	4	1	1	5			C3N-02003_TP	C3N-02003_NB	A	A																c.89A>G	p.Gln30Arg	p.Q30R	ENST00000289361	3/10	178	167	11	125	125	0	varscan-mutect	BTN3A1,missense_variant,p.Gln30Arg,ENST00000289361,NM_007048.5;BTN3A1,missense_variant,p.Gln30Arg,ENST00000414912,NM_001145008.1;BTN3A1,missense_variant,p.Gln30Arg,ENST00000425234,NM_001145009.1;BTN3A1,missense_variant,p.Gln30Arg,ENST00000476549,NM_194441.2;BTN3A1,missense_variant,p.Gln30Arg,ENST00000506698,;BTN3A1,missense_variant,p.Gln30Arg,ENST00000450085,;BTN3A1,missense_variant,p.Gln30Arg,ENST00000427334,;BTN3A1,non_coding_transcript_exon_variant,,ENST00000082468,;BTN3A1,upstream_gene_variant,,ENST00000502361,;BTN3A1,upstream_gene_variant,,ENST00000513047,;BTN3A1,downstream_gene_variant,,ENST00000465690,;	G	ENST00000289361	Transcript	missense_variant	457/3434	89/1542	30/513	Q/R	cAg/cGg	COSM318962	1		1	BTN3A1	HGNC	HGNC:1138	protein_coding	YES	CCDS4608.1	ENSP00000289361	O00481		UPI000013C904	NM_007048.5	tolerated(0.2)		3/10		PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF70											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	87	26405912	26405912	A	G	1	0	0	0	0	1	0	0	0	1738	202	7	5		5	BTN3A1	6	26405912	Missense_Mutation	SNP	A	C3N-02003_TP	10078728	26405912	144400067	111	28491											
MRPS18B	0	.	GRCh38	chr6	30619508	30619508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtaggttcccctccagactCtttgcaccaaagctccctct	7	12	6	16	0	2	1	0	0	2	1	5	1	5	1	5	1	2	4	5	1	2	3	rs753507164		C3N-02003_TP	C3N-02003_NB	C	C																c.94C>T	p.Leu32Phe	p.L32F	ENST00000259873	2/7	134	119	15	143	141	2	strelka-varscan-mutect	MRPS18B,missense_variant,p.Leu32Phe,ENST00000259873,NM_014046.3;PPP1R10,upstream_gene_variant,,ENST00000376511,NM_002714.3;MRPS18B,non_coding_transcript_exon_variant,,ENST00000472229,;PPP1R10,upstream_gene_variant,,ENST00000484449,;PPP1R10,upstream_gene_variant,,ENST00000473954,;MRPS18B,non_coding_transcript_exon_variant,,ENST00000472267,;MRPS18B,non_coding_transcript_exon_variant,,ENST00000492316,;	T	ENST00000259873	Transcript	missense_variant	251/1532	94/777	32/258	L/F	Ctt/Ttt	rs753507164	1		1	MRPS18B	HGNC	HGNC:14516	protein_coding	YES	CCDS4682.1	ENSP00000259873	Q9Y676	B0S7P4	UPI0000132F37	NM_014046.3	tolerated(0.26)		2/7		hmmpanther:PTHR13329:SF2,hmmpanther:PTHR13329																	MODERATE	1	SNV	1			1										PASS		rs753507164	.												T	3	4	87	30619508	30619508	C	T	1	0	0	0	0	1	0	0	0	9806	913	32	3		3	MRPS18B	6	30619508	Missense_Mutation	SNP	C	C3N-02003_TP	4213596	30619508	140186471	112	28492											
NRM	0	.	GRCh38	chr6	30690939	30690939	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggccaggatgaaagaggcGagggcagcagggatcaggag	14	2	19	6	1	1	2	1	1	0	1	1	6	1	5	1	6	1	2	1	6	2	0	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.36C>T	p.=	p.L12L	ENST00000259953	2/5	271	246	25	267	267	0	strelka-varscan-mutect	NRM,synonymous_variant,p.=,ENST00000259953,NM_007243.2;NRM,synonymous_variant,p.=,ENST00000376421,NM_001270707.1;NRM,synonymous_variant,p.=,ENST00000376420,NM_001270709.1;PPP1R18,upstream_gene_variant,,ENST00000274853,NM_133471.3;PPP1R18,upstream_gene_variant,,ENST00000615527,;PPP1R18,upstream_gene_variant,,ENST00000399199,NM_001134870.1;NRM,upstream_gene_variant,,ENST00000444096,;NRM,non_coding_transcript_exon_variant,,ENST00000470733,;NRM,non_coding_transcript_exon_variant,,ENST00000462857,;NRM,non_coding_transcript_exon_variant,,ENST00000482141,;NRM,non_coding_transcript_exon_variant,,ENST00000474864,;PPP1R18,upstream_gene_variant,,ENST00000488324,;NRM,upstream_gene_variant,,ENST00000495946,;PPP1R18,upstream_gene_variant,,ENST00000467662,;	A	ENST00000259953	Transcript	synonymous_variant	388/1755	36/789	12/262	L	ctC/ctT		1		-1	NRM	HGNC	HGNC:8003	protein_coding	YES	CCDS4686.1	ENSP00000259953	Q8IXM6		UPI0000049DF1	NM_007243.2			2/5		hmmpanther:PTHR31040,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW		SNV	2			1										PASS		.	.												A	2	1	87	30690939	30690939	G	A	1	0	0	0	0	0	0	0	1	10715	1045	37	1		1	NRM	6	30690939	Silent	SNP	G	C3N-02003_TP	71431	30690939	140115040	113	28493											
MDC1	0	.	GRCh38	chr6	30712210	30712210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctcctctgcatctgtttCacagtccccatgcagaggcc	6	10	8	17	0	3	1	1	0	2	1	5	1	5	1	5	1	2	3	5	1	0	1	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1732G>A	p.Glu578Lys	p.E578K	ENST00000376406	5/15	122	113	9	114	114	0	strelka-varscan-mutect	MDC1,missense_variant,p.Glu578Lys,ENST00000376406,NM_014641.2;MDC1,upstream_gene_variant,,ENST00000417033,;MDC1,downstream_gene_variant,,ENST00000613547,;MDC1,downstream_gene_variant,,ENST00000422266,;MDC1,downstream_gene_variant,,ENST00000416571,;MDC1,downstream_gene_variant,,ENST00000425072,;MDC1-AS1,intron_variant,,ENST00000442150,;MDC1,upstream_gene_variant,,ENST00000494654,;MDC1,upstream_gene_variant,,ENST00000492462,;	T	ENST00000376406	Transcript	missense_variant	2380/7576	1732/6270	578/2089	E/K	Gaa/Aaa		1		-1	MDC1	HGNC	HGNC:21163	protein_coding	YES	CCDS34384.1	ENSP00000365588	Q14676		UPI00001AF453	NM_014641.2	tolerated(0.09)		5/15		hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF1																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	87	30712210	30712210	C	T	1	0	0	0	0	1	0	0	0	9341	835	29	3		3	MDC1	6	30712210	Missense_Mutation	SNP	C	C3N-02003_TP	21271	30712210	140093769	114	28494											
GTF2H4	0	.	GRCh38	chr6	30910036	30910036	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaccccattttccgccAgaacctccgcattgcccttc	7	10	4	20	2	1	1	1	0	0	1	4	1	3	1	8	0	3	1	8	0	2	4	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.347A>G	p.Gln116Arg	p.Q116R	ENST00000259895	4/14	274	250	24	204	204	0	strelka-varscan-mutect	GTF2H4,missense_variant,p.Gln116Arg,ENST00000259895,NM_001517.4;GTF2H4,missense_variant,p.Gln116Arg,ENST00000376316,;VARS2,upstream_gene_variant,,ENST00000321897,NM_020442.5;VARS2,upstream_gene_variant,,ENST00000542001,;VARS2,upstream_gene_variant,,ENST00000541562,NM_001167734.1;VARS2,upstream_gene_variant,,ENST00000625423,NM_001167733.2;VARS2,upstream_gene_variant,,ENST00000428017,;VARS2,upstream_gene_variant,,ENST00000421263,;GTF2H4,non_coding_transcript_exon_variant,,ENST00000453897,;VARS2,upstream_gene_variant,,ENST00000467717,;VARS2,non_coding_transcript_exon_variant,,ENST00000477288,;GTF2H4,non_coding_transcript_exon_variant,,ENST00000487746,;GTF2H4,upstream_gene_variant,,ENST00000483318,;GTF2H4,upstream_gene_variant,,ENST00000475845,;	G	ENST00000259895	Transcript	missense_variant	570/1735	347/1389	116/462	Q/R	cAg/cGg		1		1	GTF2H4	HGNC	HGNC:4658	protein_coding	YES	CCDS34386.1	ENSP00000259895	Q92759		UPI000000D741	NM_001517.4	tolerated(0.29)		4/14		Pfam_domain:PF03849,hmmpanther:PTHR13152,TIGRFAM_domain:TIGR00625																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	30910036	30910036	A	G	1	0	0	0	0	1	0	0	0	6746	188	7	5		5	GTF2H4	6	30910036	Missense_Mutation	SNP	A	C3N-02003_TP	197826	30910036	139895943	115	28495											
NOTCH4	0	.	GRCh38	chr6	32214183	32214183	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccccatgggcacagggTgcagagatgcagccccctag	8	5	13	15	0	0	1	0	0	0	1	1	2	1	1	5	2	3	3	5	2	1	1	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.2094A>G	p.=	p.A698A	ENST00000375023	13/30	158	126	32	158	158	0	strelka-varscan-mutect	NOTCH4,synonymous_variant,p.=,ENST00000375023,NM_004557.3;NOTCH4,non_coding_transcript_exon_variant,,ENST00000465528,;NOTCH4,downstream_gene_variant,,ENST00000473562,;	C	ENST00000375023	Transcript	synonymous_variant	2233/6745	2094/6012	698/2003	A	gcA/gcG		1		-1	NOTCH4	HGNC	HGNC:7884	protein_coding	YES	CCDS34420.1	ENSP00000364163	Q99466		UPI0000130571	NM_004557.3			13/30		PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF64,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	87	32214183	32214183	T	C	1	0	0	0	0	0	0	0	1	10596	1683	59	5		5	NOTCH4	6	32214183	Silent	SNP	T	C3N-02003_TP	1304147	32214183	138591796	116	28496											
RGL2	0	.	GRCh38	chr6	33295517	33295517	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctctcacctctgccacGcggatccacttctccaggag	6	11	7	17	2	4	0	1	0	4	0	8	2	5	2	4	2	1	0	4	2	0	2	rs201012764		C3N-02003_TP	C3N-02003_NB	G	G																c.1011C>A	p.=	p.R337R	ENST00000497454	7/18	118	111	7	60	60	0	strelka-mutect	RGL2,synonymous_variant,p.=,ENST00000497454,NM_004761.4,NM_001243738.1;PFDN6,intron_variant,,ENST00000463584,;TAPBP,downstream_gene_variant,,ENST00000434618,NM_003190.4;PFDN6,downstream_gene_variant,,ENST00000395131,;PFDN6,downstream_gene_variant,,ENST00000374606,NM_001185181.2;RGL2,downstream_gene_variant,,ENST00000425946,;PFDN6,downstream_gene_variant,,ENST00000374607,NM_014260.3,NM_001265595.1,NM_001265596.1;PFDN6,downstream_gene_variant,,ENST00000374610,;RGL2,non_coding_transcript_exon_variant,,ENST00000437840,;RGL2,non_coding_transcript_exon_variant,,ENST00000491168,;RGL2,upstream_gene_variant,,ENST00000471319,;RGL2,downstream_gene_variant,,ENST00000485077,;RGL2,non_coding_transcript_exon_variant,,ENST00000483151,;RGL2,non_coding_transcript_exon_variant,,ENST00000476616,;RGL2,downstream_gene_variant,,ENST00000494550,;RGL2,downstream_gene_variant,,ENST00000478610,;PFDN6,downstream_gene_variant,,ENST00000491382,;PFDN6,downstream_gene_variant,,ENST00000395134,;RGL2,downstream_gene_variant,,ENST00000460988,;	T	ENST00000497454	Transcript	synonymous_variant	1507/3278	1011/2334	337/777	R	cgC/cgA	rs201012764	1		-1	RGL2	HGNC	HGNC:9769	protein_coding	YES	CCDS4774.1	ENSP00000420211	O15211	A0A024RCS9	UPI0000001621	NM_004761.4,NM_001243738.1			7/18		PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF213,Gene3D:2ii0A02,Pfam_domain:PF00617,SMART_domains:SM00147,Superfamily_domains:0041591																	LOW	1	SNV	1			1										PASS		rs201012764	.												T	2	4	87	33295517	33295517	G	T	1	0	0	0	0	0	0	0	1	13450	1074	38	1		1	RGL2	6	33295517	Silent	SNP	G	C3N-02003_TP	1081334	33295517	137510462	117	28497											
RGL2	0	.	GRCh38	chr6	33295732	33295732	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacaggcctcccaggcactGagaggggatcaaattgagaa	13	5	12	11	0	1	2	1	2	0	2	2	5	2	3	3	4	0	1	3	4	2	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.796C>T	p.Gln266Ter	p.Q266*	ENST00000497454	7/18	122	111	11	91	91	0	strelka-varscan-mutect	RGL2,stop_gained,p.Gln266Ter,ENST00000497454,NM_004761.4,NM_001243738.1;PFDN6,intron_variant,,ENST00000463584,;TAPBP,downstream_gene_variant,,ENST00000434618,NM_003190.4;PFDN6,downstream_gene_variant,,ENST00000395131,;PFDN6,downstream_gene_variant,,ENST00000374606,NM_001185181.2;RGL2,downstream_gene_variant,,ENST00000425946,;PFDN6,downstream_gene_variant,,ENST00000374607,NM_014260.3,NM_001265595.1,NM_001265596.1;PFDN6,downstream_gene_variant,,ENST00000374610,;RGL2,non_coding_transcript_exon_variant,,ENST00000437840,;RGL2,non_coding_transcript_exon_variant,,ENST00000491168,;RGL2,upstream_gene_variant,,ENST00000471319,;RGL2,downstream_gene_variant,,ENST00000485077,;RGL2,non_coding_transcript_exon_variant,,ENST00000483151,;RGL2,non_coding_transcript_exon_variant,,ENST00000478610,;RGL2,upstream_gene_variant,,ENST00000476616,;RGL2,downstream_gene_variant,,ENST00000494550,;PFDN6,downstream_gene_variant,,ENST00000491382,;PFDN6,downstream_gene_variant,,ENST00000395134,;RGL2,downstream_gene_variant,,ENST00000460988,;	A	ENST00000497454	Transcript	stop_gained	1292/3278	796/2334	266/777	Q/*	Cag/Tag		1		-1	RGL2	HGNC	HGNC:9769	protein_coding	YES	CCDS4774.1	ENSP00000420211	O15211	A0A024RCS9	UPI0000001621	NM_004761.4,NM_001243738.1			7/18		PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF213,Gene3D:2ii0A02,Pfam_domain:PF00617,SMART_domains:SM00147,Superfamily_domains:0041591																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	87	33295732	33295732	G	A	1	0	0	0	0	0	1	0	0	13450	1299	45	3		3	RGL2	6	33295732	Nonsense_Mutation	SNP	G	C3N-02003_TP	215	33295732	137510247	118	28498											
NFKBIE	0	.	GRCh38	chr6	44262637	44262637	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcagcaccgctggggcctCatgaatcactgccaggtgga	9	6	14	12	1	2	1	2	1	0	0	2	3	2	2	3	4	3	3	3	4	1	0	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.808G>C	p.Glu270Gln	p.E270Q	ENST00000275015	2/6	255	240	15	252	252	0	strelka-varscan-mutect	NFKBIE,missense_variant,p.Glu270Gln,ENST00000275015,NM_004556.2;NFKBIE,missense_variant,p.Glu131Gln,ENST00000619360,;SLC35B2,upstream_gene_variant,,ENST00000615337,NM_001286511.1;NFKBIE,upstream_gene_variant,,ENST00000443607,;NFKBIE,intron_variant,,ENST00000477930,;	G	ENST00000275015	Transcript	missense_variant	833/2581	808/1503	270/500	E/Q	Gag/Cag		1		-1	NFKBIE	HGNC	HGNC:7799	protein_coding	YES	CCDS34463.1	ENSP00000275015	O00221	A0A024RD24	UPI000013DA3C	NM_004556.2	tolerated(0.08)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF37,hmmpanther:PTHR24118,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	44262637	44262637	C	G	1	0	0	0	0	1	0	0	0	10417	835	29	4		4	NFKBIE	6	44262637	Missense_Mutation	SNP	C	C3N-02003_TP	10966905	44262637	126543342	119	28499											
ADGRF5	0	.	GRCh38	chr6	46858259	46858259	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgctcttgctgatctgaAacaggctgctcttctcctgc	7	13	8	13	0	4	2	0	2	4	0	5	2	4	2	1	1	5	4	1	1	2	2	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.3644T>G	p.Phe1215Cys	p.F1215C	ENST00000283296	17/21	272	238	34	182	182	0	strelka-varscan-mutect	ADGRF5,missense_variant,p.Phe1215Cys,ENST00000283296,NM_001098518.1;ADGRF5,missense_variant,p.Phe1215Cys,ENST00000265417,NM_015234.4;ADGRF5,downstream_gene_variant,,ENST00000498632,;	C	ENST00000283296	Transcript	missense_variant	3933/5810	3644/4041	1215/1346	F/C	tTt/tGt		1		-1	ADGRF5	HGNC	HGNC:19030	protein_coding	YES	CCDS4919.1	ENSP00000283296	Q8IZF2		UPI000007075A	NM_001098518.1	deleterious(0)		17/21		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272,Pfam_domain:PF00002,Prints_domain:PR01695																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	46858259	46858259	A	C	1	0	0	0	0	1	0	0	0	367	14	1	5		5	ADGRF5	6	46858259	Missense_Mutation	SNP	A	C3N-02003_TP	2595622	46858259	123947720	120	28500											
ADGRF5	0	.	GRCh38	chr6	46860755	46860755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggttggaactgttgagAgcagatcaaggatgttaata	12	12	13	4	0	1	2	1	1	0	2	1	5	1	4	0	3	2	4	0	3	4	5	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.2339T>C	p.Leu780Pro	p.L780P	ENST00000283296	16/21	89	70	19	116	116	0	strelka-varscan-mutect	ADGRF5,missense_variant,p.Leu780Pro,ENST00000283296,NM_001098518.1;ADGRF5,missense_variant,p.Leu780Pro,ENST00000265417,NM_015234.4;ADGRF5,non_coding_transcript_exon_variant,,ENST00000498632,;	G	ENST00000283296	Transcript	missense_variant	2628/5810	2339/4041	780/1346	L/P	cTc/cCc		1		-1	ADGRF5	HGNC	HGNC:19030	protein_coding	YES	CCDS4919.1	ENSP00000283296	Q8IZF2		UPI000007075A	NM_001098518.1	deleterious(0)		16/21		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	46860755	46860755	A	G	1	0	0	0	0	1	0	0	0	367	304	11	5		5	ADGRF5	6	46860755	Missense_Mutation	SNP	A	C3N-02003_TP	2496	46860755	123945224	121	28501											
CENPQ	0	.	GRCh38	chr6	49488424	49488424	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagcctaaagaacaaaattCagattctggcaagtgaggtg	16	8	11	6	0	2	4	1	1	1	3	2	4	2	4	1	2	2	1	1	2	6	3	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.550C>T	p.Gln184Ter	p.Q184*	ENST00000335783	7/9	141	130	11	203	203	0	strelka-varscan-mutect	CENPQ,stop_gained,p.Gln184Ter,ENST00000335783,NM_018132.3;	T	ENST00000335783	Transcript	stop_gained	644/1733	550/807	184/268	Q/*	Cag/Tag		1		1	CENPQ	HGNC	HGNC:21347	protein_coding	YES	CCDS4925.1	ENSP00000337289	Q7L2Z9		UPI000020DE7B	NM_018132.3			7/9		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF13094,hmmpanther:PTHR31345,hmmpanther:PTHR31345:SF3																	HIGH	1	SNV	1			1										PASS		rs1396104443	.												T	4	4	87	49488424	49488424	C	T	1	0	0	0	0	0	1	0	0	2949	827	29	3		3	CENPQ	6	49488424	Nonsense_Mutation	SNP	C	C3N-02003_TP	2627669	49488424	121317555	122	28502											
IL17F	0	.	GRCh38	chr6	52236949	52236949	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttactgcacatggtggatGacaggggtgacgcaggtgca	9	9	15	8	1	1	2	0	2	1	0	1	3	1	3	0	5	3	3	0	5	1	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.474C>G	p.=	p.V158V	ENST00000336123	3/3	446	412	34	337	337	0	strelka-varscan-mutect	IL17F,synonymous_variant,p.=,ENST00000336123,NM_052872.3;IL17F,non_coding_transcript_exon_variant,,ENST00000478427,;	C	ENST00000336123	Transcript	synonymous_variant	582/850	474/492	158/163	V	gtC/gtG		1		-1	IL17F	HGNC	HGNC:16404	protein_coding	YES	CCDS4938.1	ENSP00000337432	Q96PD4		UPI0000038A0C	NM_052872.3			3/3		hmmpanther:PTHR21295:SF8,hmmpanther:PTHR21295,Gene3D:2.10.90.10,Superfamily_domains:SSF57501																	LOW	1	SNV	1			1										PASS		rs1312601839	.												C	2	2	87	52236949	52236949	G	C	1	0	0	0	0	0	0	0	1	7546	1277	45	4		4	IL17F	6	52236949	Silent	SNP	G	C3N-02003_TP	2748525	52236949	118569030	123	28503											
MCM3	0	.	GRCh38	chr6	52284599	52284599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccggcgcctccctcacctCgtcgtccaggaagtccaggt	5	7	11	18	5	1	0	1	0	0	0	6	1	4	1	6	3	0	0	6	3	1	0	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.211G>A	p.Glu71Lys	p.E71K	ENST00000616552	1/17	376	332	44	356	356	0	strelka-varscan-mutect	MCM3,missense_variant,p.Glu71Lys,ENST00000616552,NM_002388.4;MCM3,missense_variant,p.Glu71Lys,ENST00000596288,;MCM3,missense_variant,p.Glu26Lys,ENST00000229854,;MCM3,splice_region_variant,p.=,ENST00000419835,NM_001270472.1;MCM3,missense_variant,p.Glu71Lys,ENST00000596983,;	T	ENST00000616552	Transcript	missense_variant,splice_region_variant	283/3208	211/2562	71/853	E/K	Gag/Aag		1		-1	MCM3	HGNC	HGNC:6945	protein_coding	YES	CCDS4940.2	ENSP00000480987	P25205		UPI0000EE4F08	NM_002388.4	tolerated(0.23)		1/17		hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF72,Gene3D:1ltlA01,Pfam_domain:PF14551,Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	52284599	52284599	C	T	1	0	0	0	0	1	0	0	0	9319	898	31	1		1	MCM3	6	52284599	Missense_Mutation	SNP	C	C3N-02003_TP	47650	52284599	118521380	124	28504											
ME1	0	.	GRCh38	chr6	83211951	83211951	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaactttggtctgtattttCtgcacctcttcaggccaaga	8	15	7	11	0	5	1	2	0	3	1	5	1	5	1	2	2	2	2	2	2	3	5	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1692G>A	p.=	p.Q564Q	ENST00000369705	14/14	71	63	8	120	120	0	strelka-varscan-mutect	ME1,synonymous_variant,p.=,ENST00000369705,NM_002395.5;	T	ENST00000369705	Transcript	synonymous_variant	1809/3371	1692/1719	564/572	Q	caG/caA		1		-1	ME1	HGNC	HGNC:6983	protein_coding	YES	CCDS34492.1	ENSP00000358719	P48163		UPI000000127E	NM_002395.5			14/14		Gene3D:3.40.50.720,hmmpanther:PTHR23406,hmmpanther:PTHR23406:SF17,Superfamily_domains:SSF51735																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	87	83211951	83211951	C	T	1	0	0	0	0	0	0	0	1	9356	912	32	3		3	ME1	6	83211951	Silent	SNP	C	C3N-02003_TP	30927352	83211951	87594028	125	28505											
RRAGD	0	.	GRCh38	chr6	89387515	89387515	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caactttctgaatagacgacTtgccgcttctcctcaggccc	8	11	7	15	2	3	2	1	1	2	1	4	3	3	2	3	1	2	1	3	1	3	4	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.224A>G	p.Lys75Arg	p.K75R	ENST00000369415	2/7	191	174	17	179	179	0	strelka-varscan-mutect	RRAGD,missense_variant,p.Lys75Arg,ENST00000369415,NM_021244.4;RRAGD,intron_variant,,ENST00000359203,;RRAGD,non_coding_transcript_exon_variant,,ENST00000492783,;	C	ENST00000369415	Transcript	missense_variant	501/4900	224/1203	75/400	K/R	aAg/aGg		1		-1	RRAGD	HGNC	HGNC:19903	protein_coding	YES	CCDS5022.1	ENSP00000358423	Q9NQL2		UPI000006E549	NM_021244.4	deleterious(0)		2/7		Gene3D:3.40.50.300,Pfam_domain:PF04670,hmmpanther:PTHR11259,hmmpanther:PTHR11259:SF5,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	89387515	89387515	T	C	1	0	0	0	0	1	0	0	0	13929	1609	56	5		5	RRAGD	6	89387515	Missense_Mutation	SNP	T	C3N-02003_TP	6175564	89387515	81418464	126	28506											
SIM1	0	.	GRCh38	chr6	100390753	100390753	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggctcaacatttttccctCtctctgctggatatggtcac	6	14	9	12	0	4	0	2	0	2	0	6	1	5	1	1	4	2	2	1	4	2	3	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1909G>C	p.Glu637Gln	p.E637Q	ENST00000369208	12/12	376	339	37	343	343	0	strelka-varscan-mutect	SIM1,missense_variant,p.Glu637Gln,ENST00000369208,;SIM1,missense_variant,p.Glu637Gln,ENST00000262901,NM_005068.2;SIM1,downstream_gene_variant,,ENST00000505753,;	G	ENST00000369208	Transcript	missense_variant	2692/8430	1909/2301	637/766	E/Q	Gag/Cag		1		-1	SIM1	HGNC	HGNC:10882	protein_coding	YES	CCDS5045.1	ENSP00000358210	P81133		UPI000013D355		tolerated_low_confidence(0.2)		12/12		Pfam_domain:PF06621,PROSITE_profiles:PS51302,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF29																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	100390753	100390753	C	G	1	0	0	0	0	1	0	0	0	14586	922	32	4		4	SIM1	6	100390753	Missense_Mutation	SNP	C	C3N-02003_TP	11003238	100390753	70415226	127	28507											
MICAL1	0	.	GRCh38	chr6	109447071	109447071	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctcccaggcccactcAccatctcctgggtgctgctc	5	9	10	17	0	3	0	1	0	2	0	6	1	3	0	4	3	2	2	4	3	0	0	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.2284+2T>G		p.X762_splice	ENST00000630715		99	74	25	74	74	0	strelka-varscan-mutect	MICAL1,splice_donor_variant,,ENST00000630715,NM_001286613.1;MICAL1,splice_donor_variant,,ENST00000358807,NM_022765.3;MICAL1,splice_donor_variant,,ENST00000358577,NM_001159291.1;SMPD2,downstream_gene_variant,,ENST00000258052,NM_003080.2;MICAL1,downstream_gene_variant,,ENST00000433205,;SMPD2,downstream_gene_variant,,ENST00000458487,;MICAL1,downstream_gene_variant,,ENST00000483856,;MICAL1,splice_donor_variant,,ENST00000465904,;MICAL1,splice_donor_variant,,ENST00000456101,;SMPD2,downstream_gene_variant,,ENST00000439615,;	C	ENST00000630715	Transcript	splice_donor_variant	-/3678	2284/3261	762/1086				1		-1	MICAL1	HGNC	HGNC:20619	protein_coding	YES	CCDS69170.1	ENSP00000486901	Q8TDZ2		UPI0002064DFD	NM_001286613.1				17/24																		HIGH		SNV	2			1										PASS		rs1363297935	.												C	5	2	87	109447071	109447071	A	C	1	0	0	0	0	0	0	1	0	9526	173	6	5		5	MICAL1	6	109447071	Splice_Site	SNP	A	C3N-02003_TP	9056318	109447071	61358908	128	28508											
FBXO5	0	.	GRCh38	chr6	152975594	152975594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcacacttcattttgacaGaaagggtagaactttcttct	13	14	6	8	0	4	3	2	1	2	2	4	3	4	3	0	1	1	1	0	1	4	6	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.131C>A	p.Ser44Tyr	p.S44Y	ENST00000229758	2/5	52	47	5	86	86	0	strelka-varscan-mutect	FBXO5,missense_variant,p.Ser44Tyr,ENST00000229758,NM_012177.3;FBXO5,5_prime_UTR_variant,,ENST00000367241,NM_001142522.1;FBXO5,upstream_gene_variant,,ENST00000477822,;	T	ENST00000229758	Transcript	missense_variant	190/2037	131/1344	44/447	S/Y	tCt/tAt		1		-1	FBXO5	HGNC	HGNC:13584	protein_coding	YES	CCDS5242.1	ENSP00000229758	Q9UKT4		UPI000012A585	NM_012177.3	tolerated(0.07)		2/5		hmmpanther:PTHR15493,hmmpanther:PTHR15493:SF8																	MODERATE	1	SNV	1			1										PASS		rs1276603040	.												T	3	4	87	152975594	152975594	G	T	1	0	0	0	0	1	0	0	0	5621	942	33	2		2	FBXO5	6	152975594	Missense_Mutation	SNP	G	C3N-02003_TP	43528523	152975594	17830385	129	28509											
AHR	0	.	GRCh38	chr7	17340021	17340021	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatccccataccccactacTtctagtttagaagattttgt	10	14	4	13	0	1	2	0	0	1	2	2	2	2	2	5	0	2	1	5	0	5	8	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.2196T>G	p.=	p.T732T	ENST00000242057	10/11	120	111	9	131	131	0	strelka-varscan-mutect	AHR,synonymous_variant,p.=,ENST00000242057,NM_001621.4;RP11-507K12.1,synonymous_variant,p.=,ENST00000637807,;AHR,downstream_gene_variant,,ENST00000492120,;AHR,downstream_gene_variant,,ENST00000481944,;AHR,synonymous_variant,p.=,ENST00000463496,;	G	ENST00000242057	Transcript	synonymous_variant	2839/6276	2196/2547	732/848	T	acT/acG		1		1	AHR	HGNC	HGNC:348	protein_coding	YES	CCDS5366.1	ENSP00000242057	P35869	A0A024R9Z8	UPI0000125727	NM_001621.4			10/11		hmmpanther:PTHR10649:SF9,hmmpanther:PTHR10649																	LOW	1	SNV	1			1										PASS		rs1441798551	.												G	2	3	87	17340021	17340021	T	G	1	0	0	0	0	0	0	0	1	493	1596	56	5		5	AHR	7	17340021	Silent	SNP	T	C3N-02003_TP		17340021	142005952	130	28510											
ADCYAP1R1	0	.	GRCh38	chr7	31064918	31064918	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggccaatgagctgatgggcTtcaatgattcctctccaggt	8	11	12	10	0	2	3	1	3	1	0	4	3	3	3	3	3	1	2	3	3	2	2			C3N-02003_TP	C3N-02003_NB	T	T																c.139T>G	p.Phe47Val	p.F47V	ENST00000614107	3/17	179	169	10	166	166	0	strelka-varscan-mutect	ADCYAP1R1,missense_variant,p.Phe47Val,ENST00000614107,NM_001199635.1,NM_001199636.1;ADCYAP1R1,missense_variant,p.Phe47Val,ENST00000304166,NM_001118.4;ADCYAP1R1,missense_variant,p.Phe47Val,ENST00000409363,NM_001199637.1;ADCYAP1R1,missense_variant,p.Phe47Val,ENST00000409489,;ADCYAP1R1,missense_variant,p.Phe47Val,ENST00000396211,;ADCYAP1R1,missense_variant,p.Phe47Val,ENST00000431811,;	G	ENST00000614107	Transcript	missense_variant	428/6575	139/1491	47/496	F/V	Ttc/Gtc	COSM5544430	1		1	ADCYAP1R1	HGNC	HGNC:242	protein_coding	YES	CCDS56480.1	ENSP00000483721	P41586		UPI0000DA58BA	NM_001199635.1,NM_001199636.1	tolerated(0.56)		3/17		Prints_domain:PR01156,PROSITE_profiles:PS50227,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF228,Superfamily_domains:SSF111418											1						MODERATE	1	SNV	5		1	1										PASS		.	.												G	3	3	87	31064918	31064918	T	G	1	0	0	0	0	1	0	0	0	347	1609	56	5		5	ADCYAP1R1	7	31064918	Missense_Mutation	SNP	T	C3N-02003_TP	13724897	31064918	128281055	131	28511											
BMPER	0	.	GRCh38	chr7	33905688	33905688	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgggattacgtgctgcgtCttgctgctactcaattgctc	5	14	10	12	2	2	0	1	0	1	0	3	1	2	1	1	1	7	4	1	1	3	4	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.75C>T	p.=	p.V25V	ENST00000297161	2/16	503	457	46	513	513	0	strelka-varscan-mutect	BMPER,synonymous_variant,p.=,ENST00000297161,NM_133468.4;BMPER,synonymous_variant,p.=,ENST00000436222,;BMPER,synonymous_variant,p.=,ENST00000448280,;BMPER,synonymous_variant,p.=,ENST00000444773,;BMPER,non_coding_transcript_exon_variant,,ENST00000496609,;	T	ENST00000297161	Transcript	synonymous_variant	449/5031	75/2058	25/685	V	gtC/gtT		1		1	BMPER	HGNC	HGNC:24154	protein_coding	YES	CCDS5442.1	ENSP00000297161	Q8N8U9	A0A090N7U6	UPI000006D462	NM_133468.4			2/16		Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	87	33905688	33905688	C	T	1	0	0	0	0	0	0	0	1	1623	900	32	3		3	BMPER	7	33905688	Silent	SNP	C	C3N-02003_TP	2840770	33905688	125440285	132	28512											
DDC	0	.	GRCh38	chr7	50539956	50539956	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatggccccgcacagcatgtCcgcaagcatggccgggtacg	9	5	13	14	4	0	0	0	0	0	0	1	0	1	0	4	3	3	5	4	3	3	1	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.274G>C	p.Asp92His	p.D92H	ENST00000444124	3/15	569	519	50	458	458	0	strelka-varscan-mutect	DDC,missense_variant,p.Asp92His,ENST00000444124,NM_001082971.1;DDC,missense_variant,p.Asp92His,ENST00000357936,NM_000790.3;DDC,missense_variant,p.Asp92His,ENST00000617822,NM_001242887.1;DDC,missense_variant,p.Asp92His,ENST00000615193,NM_001242889.1;DDC,missense_variant,p.Asp92His,ENST00000431062,;DDC,missense_variant,p.Asp58His,ENST00000430300,;DDC,missense_variant,p.Asp92His,ENST00000380984,NM_001242890.1;FIGNL1,intron_variant,,ENST00000613602,;DDC,intron_variant,,ENST00000622873,NM_001242886.1;DDC,intron_variant,,ENST00000426377,NM_001242888.1;DDC,downstream_gene_variant,,ENST00000420203,;DDC-AS1,non_coding_transcript_exon_variant,,ENST00000454521,;DDC,non_coding_transcript_exon_variant,,ENST00000489162,;DDC,intron_variant,,ENST00000444733,;	G	ENST00000444124	Transcript	missense_variant	475/2041	274/1443	92/480	D/H	Gac/Cac		1		-1	DDC	HGNC	HGNC:2719	protein_coding	YES	CCDS5511.1	ENSP00000403644	P20711	A0A0S2Z3N4	UPI000013F150	NM_001082971.1	deleterious(0)		3/15		Gene3D:3.40.640.10,Pfam_domain:PF00282,Prints_domain:PR00800,hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF70,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	50539956	50539956	C	G	1	0	0	0	0	1	0	0	0	4128	855	30	4		4	DDC	7	50539956	Missense_Mutation	SNP	C	C3N-02003_TP	16634268	50539956	108806017	133	28513											
ZNF479	0	.	GRCh38	chr7	57120250	57120250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgaggagcgcctaaagtCttggccacattcttcacatg	9	11	10	11	1	3	1	1	1	2	0	3	2	3	2	2	2	2	1	2	2	2	4	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1165G>A	p.Asp389Asn	p.D389N	ENST00000331162	5/5	98	89	9	137	137	0	varscan-mutect	ZNF479,missense_variant,p.Asp389Asn,ENST00000331162,NM_033273.2;ZNF479,missense_variant,p.Asp389Asn,ENST00000319636,;ZNF479,missense_variant,p.Asp277Asn,ENST00000620639,;	T	ENST00000331162	Transcript	missense_variant	1436/2072	1165/1575	389/524	D/N	Gac/Aac		1		-1	ZNF479	HGNC	HGNC:23258	protein_coding	YES	CCDS43590.1	ENSP00000333776	Q96JC4		UPI000006E615	NM_033273.2	deleterious(0.01)		5/5		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF103,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	57120250	57120250	C	T	1	0	0	0	0	1	0	0	0	18505	913	32	3		3	ZNF479	7	57120250	Missense_Mutation	SNP	C	C3N-02003_TP	6580294	57120250	102225723	134	28514											
POMZP3	0	.	GRCh38	chr7	76625684	76625684	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgattatctgctctggtCtataatgaaagacaggattc	12	13	9	7	0	3	3	0	2	3	1	4	4	3	4	0	2	2	2	0	2	4	4	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.66-1G>A		p.X22_splice	ENST00000310842		157	147	10	162	162	0	varscan-mutect	POMZP3,splice_acceptor_variant,,ENST00000310842,NM_012230.3;POMZP3,splice_acceptor_variant,,ENST00000275569,NM_152992.2;POMZP3,splice_acceptor_variant,,ENST00000454397,;AC004980.7,intron_variant,,ENST00000418663,;AC004980.7,intron_variant,,ENST00000450661,;AC004980.7,downstream_gene_variant,,ENST00000423084,;POMZP3,splice_acceptor_variant,,ENST00000424818,;	T	ENST00000310842	Transcript	splice_acceptor_variant	-/1490	66/564	22/187				1		-1	POMZP3	HGNC	HGNC:9203	protein_coding	YES	CCDS43606.1	ENSP00000309233	Q6PJE2		UPI000059D9C5	NM_012230.3				2/6																		HIGH	1	SNV	1			1										PASS		rs1372152588	.												T	5	4	87	76625684	76625684	C	T	1	0	0	0	0	0	0	1	0	12361	927	32	3		3	POMZP3	7	76625684	Splice_Site	SNP	C	C3N-02003_TP	19505434	76625684	82720289	135	28515											
VPS50	0	.	GRCh38	chr7	93341429	93341429	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatctattgtattttcaggaAgtttcagctgatcctactgc	9	17	7	8	0	3	1	2	1	1	0	4	2	4	2	1	1	3	3	1	1	5	8	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.2061A>C	p.Glu687Asp	p.E687D	ENST00000305866	23/28	79	74	5	70	70	0	strelka-varscan-mutect	VPS50,missense_variant,p.Glu657Asp,ENST00000544910,NM_001257998.1;VPS50,missense_variant,p.Glu687Asp,ENST00000305866,NM_017667.3;VPS50,splice_region_variant,,ENST00000474412,;VPS50,splice_region_variant,,ENST00000467326,;VPS50,splice_region_variant,,ENST00000441602,;VPS50,splice_region_variant,,ENST00000471188,;VPS50,splice_region_variant,,ENST00000480943,;	C	ENST00000305866	Transcript	missense_variant,splice_region_variant	2189/3613	2061/2895	687/964	E/D	gaA/gaC		1		1	VPS50	HGNC	HGNC:25956	protein_coding	YES	CCDS43617.1	ENSP00000307666	Q96JG6		UPI000015F998	NM_017667.3	tolerated(0.22)		23/28		hmmpanther:PTHR13258																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	93341429	93341429	A	C	1	0	0	0	0	1	0	0	0	17760	86	3	5		5	VPS50	7	93341429	Missense_Mutation	SNP	A	C3N-02003_TP	16715745	93341429	66004544	136	28516											
TRRAP	0	.	GRCh38	chr7	98890419	98890419	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctccaagatggagaagttCagtttcttcaggagaaacca	13	11	9	8	0	4	3	2	0	2	3	5	5	4	3	2	2	1	2	2	2	3	4	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.235C>T	p.Gln79Ter	p.Q79*	ENST00000359863	4/72	53	46	7	98	98	0	strelka-varscan-mutect	TRRAP,stop_gained,p.Gln79Ter,ENST00000359863,NM_001244580.1;TRRAP,stop_gained,p.Gln79Ter,ENST00000628380,;TRRAP,stop_gained,p.Gln79Ter,ENST00000355540,NM_003496.3;TRRAP,stop_gained,p.Gln79Ter,ENST00000446306,;TRRAP,downstream_gene_variant,,ENST00000417523,;	T	ENST00000359863	Transcript	stop_gained	444/12677	235/11580	79/3859	Q/*	Cag/Tag		1		1	TRRAP	HGNC	HGNC:12347	protein_coding	YES	CCDS59066.1	ENSP00000352925	Q9Y4A5		UPI00004575B4	NM_001244580.1			4/72		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1,Superfamily_domains:SSF48371																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	87	98890419	98890419	C	T	1	0	0	0	0	0	1	0	0	17107	827	29	3		3	TRRAP	7	98890419	Nonsense_Mutation	SNP	C	C3N-02003_TP	5548990	98890419	60455554	137	28517											
CYP3A4	0	.	GRCh38	chr7	99760982	99760982	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttcttcttgctgaatCtggttccacgttggtagatt	5	18	9	9	1	3	2	0	1	3	1	4	2	4	2	2	2	1	5	2	2	2	8	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1254-1G>T		p.X418_splice	ENST00000336411		79	73	6	121	121	0	strelka-varscan-mutect	CYP3A4,splice_acceptor_variant,,ENST00000354593,;CYP3A4,splice_acceptor_variant,,ENST00000336411,NM_017460.5,NM_001202855.2;	A	ENST00000336411	Transcript	splice_acceptor_variant	-/2153	1254/1512	418/503				1		-1	CYP3A4	HGNC	HGNC:2637	protein_coding	YES	CCDS5674.1	ENSP00000337915	P08684	Q6GRK0	UPI000013E0B7	NM_017460.5,NM_001202855.2				11/12																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	87	99760982	99760982	C	A	1	0	0	0	0	0	0	1	0	3981	927	32	2		2	CYP3A4	7	99760982	Splice_Site	SNP	C	C3N-02003_TP	870563	99760982	59584991	138	28518											
NYAP1	0	.	GRCh38	chr7	100489397	100489397	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccacagcagctgggctcaAgagaccccctgcctatgaga	11	5	11	14	0	1	2	1	1	0	2	1	4	1	2	4	1	4	3	4	1	2	1	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.1676A>C	p.Lys559Thr	p.K559T	ENST00000300179	4/7	199	184	15	165	164	1	strelka-varscan-mutect	NYAP1,missense_variant,p.Lys559Thr,ENST00000300179,NM_173564.3;NYAP1,missense_variant,p.Lys502Thr,ENST00000454988,;NYAP1,upstream_gene_variant,,ENST00000496985,;NYAP1,upstream_gene_variant,,ENST00000489641,;	C	ENST00000300179	Transcript	missense_variant	1835/3581	1676/2526	559/841	K/T	aAg/aCg		1		1	NYAP1	HGNC	HGNC:22009	protein_coding	YES	CCDS5696.1	ENSP00000300179	Q6ZVC0		UPI00001C0A2E	NM_173564.3	deleterious(0)		4/7		hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF2																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	87	100489397	100489397	A	C	1	0	0	0	0	1	0	0	0	10872	72	3	5		5	NYAP1	7	100489397	Missense_Mutation	SNP	A	C3N-02003_TP	728415	100489397	58856576	139	28519											
TFR2	0	.	GRCh38	chr7	100629373	100629373	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgatgacaacgtagtgatCtggggaggggatgtttggga	9	9	17	6	2	1	2	0	2	1	0	1	6	1	5	1	5	1	2	1	5	2	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1271-1G>A		p.X424_splice	ENST00000462107		352	332	20	280	280	0	strelka-mutect	TFR2,splice_acceptor_variant,,ENST00000462107,;TFR2,splice_acceptor_variant,,ENST00000223051,NM_003227.3,NM_001206855.1;TFR2,splice_acceptor_variant,,ENST00000431692,;TFR2,splice_acceptor_variant,,ENST00000465294,;TFR2,splice_acceptor_variant,,ENST00000476304,;TFR2,splice_acceptor_variant,,ENST00000490084,;TFR2,intron_variant,,ENST00000462090,;TFR2,intron_variant,,ENST00000473374,;TFR2,intron_variant,,ENST00000473963,;TFR2,upstream_gene_variant,,ENST00000461176,;TFR2,downstream_gene_variant,,ENST00000473571,;TFR2,downstream_gene_variant,,ENST00000475011,;	T	ENST00000462107	Transcript	splice_acceptor_variant	-/3131	1271/2406	424/801				1		-1	TFR2	HGNC	HGNC:11762	protein_coding	YES	CCDS34707.1	ENSP00000420525	Q9UP52		UPI0000136C99					10/18																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	87	100629373	100629373	C	T	1	0	0	0	0	0	0	1	0	16244	927	32	3		3	TFR2	7	100629373	Splice_Site	SNP	C	C3N-02003_TP	139976	100629373	58716600	140	28520											
HBP1	0	.	GRCh38	chr7	107196144	107196144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagatgtatccagggaaaGataacaggtaaaaatagtga	18	8	10	5	0	1	3	1	1	0	2	2	4	2	4	1	2	1	2	1	2	7	4	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1378G>A	p.Asp460Asn	p.D460N	ENST00000222574	9/11	77	71	6	61	61	0	strelka-varscan-mutect	HBP1,missense_variant,p.Asp460Asn,ENST00000222574,NM_012257.3;HBP1,missense_variant,p.Asp460Asn,ENST00000468410,NM_001244262.1;HBP1,missense_variant,p.Asp460Asn,ENST00000485846,;HBP1,missense_variant,p.Asp452Asn,ENST00000498408,;HBP1,missense_variant,p.Asp100Asn,ENST00000607681,;CTA-363E19.2,upstream_gene_variant,,ENST00000607036,;HBP1,non_coding_transcript_exon_variant,,ENST00000461963,;HBP1,missense_variant,p.Asp55Asn,ENST00000463790,;HBP1,non_coding_transcript_exon_variant,,ENST00000463202,;HBP1,downstream_gene_variant,,ENST00000483809,;	A	ENST00000222574	Transcript	missense_variant	1564/2829	1378/1545	460/514	D/N	Gat/Aat		1		1	HBP1	HGNC	HGNC:23200	protein_coding	YES	CCDS5741.1	ENSP00000222574	O60381	A0A024R722	UPI000006DC04	NM_012257.3	deleterious(0.02)		9/11		Gene3D:1.10.30.10,Pfam_domain:PF00505,PROSITE_profiles:PS50118,hmmpanther:PTHR15499,SMART_domains:SM00398,Superfamily_domains:SSF47095																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	107196144	107196144	G	A	1	0	0	0	0	1	0	0	0	6871	942	33	3		3	HBP1	7	107196144	Missense_Mutation	SNP	G	C3N-02003_TP	6566771	107196144	52149829	141	28521											
IMMP2L	0	.	GRCh38	chr7	110963541	110963541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaatcactctcttaatgatCttctgttctgggtttttagg	7	18	8	8	0	5	1	1	1	4	0	6	1	5	1	0	2	0	3	0	2	3	6	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.264G>A	p.=	p.K88K	ENST00000405709	4/6	46	41	5	115	115	0	strelka-varscan-mutect	IMMP2L,synonymous_variant,p.=,ENST00000405709,NM_032549.3;IMMP2L,synonymous_variant,p.=,ENST00000331762,NM_001244606.1;IMMP2L,synonymous_variant,p.=,ENST00000447215,;IMMP2L,synonymous_variant,p.=,ENST00000452895,;IMMP2L,synonymous_variant,p.=,ENST00000450877,;IMMP2L,non_coding_transcript_exon_variant,,ENST00000489381,;IMMP2L,non_coding_transcript_exon_variant,,ENST00000487733,;	T	ENST00000405709	Transcript	synonymous_variant	707/1522	264/528	88/175	K	aaG/aaA		1		-1	IMMP2L	HGNC	HGNC:14598	protein_coding	YES	CCDS5753.1	ENSP00000384966	Q96T52	A4D0S9	UPI000006D162	NM_032549.3			4/6		Gene3D:2.10.109.10,Pfam_domain:PF00717,hmmpanther:PTHR12383,hmmpanther:PTHR12383:SF3,Superfamily_domains:SSF51306,TIGRFAM_domain:TIGR02227																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	87	110963541	110963541	C	T	1	0	0	0	0	0	0	0	1	7620	912	32	3		3	IMMP2L	7	110963541	Silent	SNP	C	C3N-02003_TP	3767397	110963541	48382432	142	28522											
LINC00998	0	.	GRCh38	chr7	113117415	113117415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagtcacatctgtccatttCtttttcgtgcatataccccc	9	15	4	13	1	3	0	1	0	2	0	5	0	4	0	3	0	2	1	3	0	3	5	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.164G>C	p.Arg55Thr	p.R55T	ENST00000397764	3/3	246	231	15	237	237	0	strelka-varscan-mutect	LINC00998,missense_variant,p.Arg55Thr,ENST00000397764,;LINC00998,missense_variant,p.Arg55Thr,ENST00000441359,;RP11-736E3.1,intron_variant,,ENST00000441928,;LINC00998,non_coding_transcript_exon_variant,,ENST00000413744,;LINC00998,downstream_gene_variant,,ENST00000439551,;	G	ENST00000397764	Transcript	missense_variant	373/1070	164/180	55/59	R/T	aGa/aCa		1		-1	LINC00998	HGNC	HGNC:48953	protein_coding	YES		ENSP00000490095	A4D0T7		UPI0000037793		deleterious_low_confidence(0.01)		3/3		hmmpanther:PTHR36878:SF2,hmmpanther:PTHR36878																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	113117415	113117415	C	G	1	0	0	0	0	1	0	0	0	8732	913	32	4		4	LINC00998	7	113117415	Missense_Mutation	SNP	C	C3N-02003_TP	2153874	113117415	46228558	143	28523											
DENND2A	0	.	GRCh38	chr7	140544657	140544657	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgaccctcctctccagaAgcagggaggcaaacacacag	14	4	10	13	0	1	3	0	1	1	2	3	4	2	4	3	2	2	2	3	2	2	0	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.2288T>G	p.Leu763Arg	p.L763R	ENST00000275884	13/19	501	463	38	428	428	0	strelka-varscan-mutect	DENND2A,missense_variant,p.Leu763Arg,ENST00000275884,NM_001318052.1;DENND2A,missense_variant,p.Leu763Arg,ENST00000492720,NM_001318053.1;DENND2A,missense_variant,p.Leu763Arg,ENST00000496613,;DENND2A,missense_variant,p.Leu763Arg,ENST00000537639,NM_015689.3;DENND2A,missense_variant,p.Leu110Arg,ENST00000469373,;DENND2A,missense_variant,p.Leu763Arg,ENST00000461883,;	C	ENST00000275884	Transcript	missense_variant	2706/3735	2288/3030	763/1009	L/R	cTt/cGt		1		-1	DENND2A	HGNC	HGNC:22212	protein_coding	YES	CCDS43659.1	ENSP00000275884	Q9ULE3		UPI00001C1E63	NM_001318052.1	deleterious(0)		13/19		PROSITE_profiles:PS50211,hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF3,Pfam_domain:PF02141,SMART_domains:SM00799																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	140544657	140544657	A	C	1	0	0	0	0	1	0	0	0	4233	72	3	5		5	DENND2A	7	140544657	Missense_Mutation	SNP	A	C3N-02003_TP	27427242	140544657	18801316	144	28524											
TMEM178B	0	.	GRCh38	chr7	141074662	141074662	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agtgccaccggcagggcttcGaccccgagatcgccgccctc	6	5	12	18	5	0	1	0	0	0	1	3	3	0	1	6	2	1	2	6	2	0	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.352G>C	p.Asp118His	p.D118H	ENST00000565468	1/4	57	51	6	42	42	0	strelka-mutect	TMEM178B,missense_variant,p.Asp118His,ENST00000565468,NM_001195278.1;TMEM178B,missense_variant,p.Asp118His,ENST00000610315,;TMEM178B,non_coding_transcript_exon_variant,,ENST00000563442,;	C	ENST00000565468	Transcript	missense_variant	431/10558	352/885	118/294	D/H	Gac/Cac		1		1	TMEM178B	HGNC	HGNC:44112	protein_coding	YES	CCDS59086.1	ENSP00000456594	H3BS89		UPI0000E217DE	NM_001195278.1	deleterious(0.01)		1/4		Pfam_domain:PF13903,hmmpanther:PTHR32005,hmmpanther:PTHR32005:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	87	141074662	141074662	G	C	1	0	0	0	0	1	0	0	0	16540	1058	37	4		4	TMEM178B	7	141074662	Missense_Mutation	SNP	G	C3N-02003_TP	530005	141074662	18271311	145	28525											
ZNF786	0	.	GRCh38	chr7	149071204	149071204	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctcaggtgctcacggagcTtgcactggtgggtgaagcct	6	10	14	11	1	2	1	2	1	1	0	3	2	2	2	1	4	4	3	1	4	1	1	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1568A>C	p.Lys523Thr	p.K523T	ENST00000491431	4/4	137	126	11	82	82	0	strelka-varscan-mutect	ZNF786,missense_variant,p.Lys437Thr,ENST00000316286,;ZNF786,missense_variant,p.Lys523Thr,ENST00000491431,NM_152411.3;	G	ENST00000491431	Transcript	missense_variant	1633/2874	1568/2349	523/782	K/T	aAg/aCg		1		-1	ZNF786	HGNC	HGNC:21806	protein_coding	YES	CCDS47738.1	ENSP00000417470	Q8N393		UPI000013FD40	NM_152411.3	deleterious(0.02)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF228,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	149071204	149071204	T	G	1	0	0	0	0	1	0	0	0	18742	1609	56	5		5	ZNF786	7	149071204	Missense_Mutation	SNP	T	C3N-02003_TP	7996542	149071204	10274769	146	28526											
AGAP3	0	.	GRCh38	chr7	151142478	151142478	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcaggcatccaccgacAcctgggggctcacctgtccc	6	7	11	17	1	2	0	2	0	0	0	4	1	4	0	5	3	1	3	5	3	0	0	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.2117A>C	p.His706Pro	p.H706P	ENST00000397238	16/18	292	252	40	183	182	1	strelka-mutect	AGAP3,missense_variant,p.His706Pro,ENST00000397238,NM_031946.5;AGAP3,missense_variant,p.His670Pro,ENST00000622464,;AGAP3,missense_variant,p.His375Pro,ENST00000463381,NM_001281300.1;AGAP3,missense_variant,p.His199Pro,ENST00000461065,;AGAP3,downstream_gene_variant,,ENST00000485904,;AGAP3,downstream_gene_variant,,ENST00000478320,;AGAP3,non_coding_transcript_exon_variant,,ENST00000473633,;	C	ENST00000397238	Transcript	missense_variant	2117/3225	2117/2736	706/911	H/P	cAc/cCc		1		1	AGAP3	HGNC	HGNC:16923	protein_coding	YES	CCDS43681.1	ENSP00000380413	Q96P47		UPI0000DAC777	NM_031946.5	deleterious(0)		16/18		Pfam_domain:PF01412,Prints_domain:PR00405,PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF198,SMART_domains:SM00105,Superfamily_domains:SSF57863																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	151142478	151142478	A	C	1	0	0	0	0	1	0	0	0	446	159	6	5		5	AGAP3	7	151142478	Missense_Mutation	SNP	A	C3N-02003_TP	2071274	151142478	8203495	147	28527											
MFHAS1	0	.	GRCh38	chr8	8892941	8892941	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggccccggccccggggcAggccccggcggcggtaagcg	3	2	19	17	7	0	0	0	0	0	0	1	0	0	0	6	8	1	2	6	8	1	1	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.118T>G	p.Cys40Gly	p.C40G	ENST00000276282	1/3	97	89	8	83	83	0	varscan-mutect	MFHAS1,missense_variant,p.Cys40Gly,ENST00000276282,NM_004225.2;RNU6-682P,upstream_gene_variant,,ENST00000363843,;	C	ENST00000276282	Transcript	missense_variant	705/6414	118/3159	40/1052	C/G	Tgc/Ggc		1		-1	MFHAS1	HGNC	HGNC:16982	protein_coding	YES	CCDS34844.1	ENSP00000276282	Q9Y4C4		UPI000013DAB6	NM_004225.2	tolerated_low_confidence(0.39)		1/3		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs771135733	.												C	3	2	87	8892941	8892941	A	C	1	0	0	0	0	1	0	0	0	9474	188	7	5		5	MFHAS1	8	8892941	Missense_Mutation	SNP	A	C3N-02003_TP		8892941	136245695	148	28528											
USP17L7	0	.	GRCh38	chr8	12133023	12133023	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtaatgtccgttgtgacaActccacccagcgtggaccag	11	8	10	12	2	0	1	0	1	0	0	2	2	2	2	4	1	2	2	4	1	3	2	rs758871430		C3N-02003_TP	C3N-02003_NB	A	A																c.987T>G	p.Ser329Arg	p.S329R	ENST00000530447	1/1	545	499	46	410	410	0	varscan-mutect	USP17L7,missense_variant,p.Ser329Arg,ENST00000530447,NM_001256869.1;USP17L2,downstream_gene_variant,,ENST00000333796,NM_201402.2;FAM66D,intron_variant,,ENST00000434078,;RP11-1236K1.8,upstream_gene_variant,,ENST00000526505,;	C	ENST00000530447	Transcript	missense_variant	1422/2028	987/1593	329/530	S/R	agT/agG	rs758871430	1		-1	USP17L7	HGNC	HGNC:37180	protein_coding	YES	CCDS78305.1	ENSP00000485337	P0C7H9		UPI00001972BD	NM_001256869.1	tolerated(0.13)		1/1		Pfam_domain:PF00443,PROSITE_patterns:PS00973,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF511,Superfamily_domains:SSF54001																	MODERATE		SNV				1										PASS		rs758871430	.												C	3	2	87	12133023	12133023	A	C	1	0	0	0	0	1	0	0	0	17589	40	2	5		5	USP17L7	8	12133023	Missense_Mutation	SNP	A	C3N-02003_TP	3240082	12133023	133005613	149	28529											
NAT2	0	.	GRCh38	chr8	18400151	18400151	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgtgggcaagccatggagTtgggcttagaggctattttt	8	14	14	5	0	0	1	0	0	0	1	0	2	0	2	1	4	1	4	1	4	3	6	rs111750824		C3N-02003_TP	C3N-02003_NB	T	T																c.148T>G	p.Leu50Val	p.L50V	ENST00000286479	2/2	133	123	10	149	149	0	strelka-varscan-mutect	NAT2,missense_variant,p.Leu50Val,ENST00000286479,NM_000015.2;NAT2,intron_variant,,ENST00000520116,;	G	ENST00000286479	Transcript	missense_variant	255/1322	148/873	50/290	L/V	Ttg/Gtg	rs111750824	1		1	NAT2	HGNC	HGNC:7646	protein_coding	YES	CCDS6008.1	ENSP00000286479	P11245	A4Z6T7	UPI000013DE51	NM_000015.2	deleterious(0)		2/2		Gene3D:1w5rA01,Pfam_domain:PF00797,Prints_domain:PR01543,hmmpanther:PTHR11786,hmmpanther:PTHR11786:SF6,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		rs111750824	.												G	3	3	87	18400151	18400151	T	G	1	0	0	0	0	1	0	0	0	10186	1722	60	5		5	NAT2	8	18400151	Missense_Mutation	SNP	T	C3N-02003_TP	6267128	18400151	126738485	150	28530											
FZD3	0	.	GRCh38	chr8	28527517	28527517	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatggtatccttaattttcTtcattggatttttgcttgaa	8	21	7	5	0	2	2	1	2	1	0	3	3	3	3	1	2	1	2	1	2	3	9	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.757T>G	p.Phe253Val	p.F253V	ENST00000537916	4/7	147	136	11	176	176	0	strelka-varscan-mutect	FZD3,missense_variant,p.Phe253Val,ENST00000537916,NM_145866.1;FZD3,missense_variant,p.Phe253Val,ENST00000240093,NM_017412.3;RNA5SP259,upstream_gene_variant,,ENST00000365541,;	G	ENST00000537916	Transcript	missense_variant	1240/13740	757/2001	253/666	F/V	Ttc/Gtc		1		1	FZD3	HGNC	HGNC:4041	protein_coding	YES	CCDS6069.1	ENSP00000437489	Q9NPG1		UPI000003156A	NM_145866.1	tolerated(0.3)		4/7		Pfam_domain:PF01534,Prints_domain:PR00489,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF22,SMART_domains:SM01330,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	87	28527517	28527517	T	G	1	0	0	0	0	1	0	0	0	6002	1609	56	5		5	FZD3	8	28527517	Missense_Mutation	SNP	T	C3N-02003_TP	10127366	28527517	116611119	151	28531											
ADGRA2	0	.	GRCh38	chr8	37830909	37830909	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagcctcatccacgactgCaccttcatcaccaggtatga	11	8	8	14	1	3	2	3	1	0	1	4	4	4	2	4	1	2	2	4	1	1	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.918C>A	p.Cys306Ter	p.C306*	ENST00000412232	7/19	192	160	32	108	108	0	strelka-varscan-mutect	ADGRA2,stop_gained,p.Cys306Ter,ENST00000315215,;ADGRA2,stop_gained,p.Cys306Ter,ENST00000412232,NM_032777.9;ADGRA2,downstream_gene_variant,,ENST00000428068,;	A	ENST00000412232	Transcript	stop_gained	931/5651	918/4017	306/1338	C/*	tgC/tgA		1		1	ADGRA2	HGNC	HGNC:17849	protein_coding	YES	CCDS6097.2	ENSP00000406367	Q96PE1		UPI00004AE50D	NM_032777.9			7/19		PROSITE_profiles:PS50835,hmmpanther:PTHR12011:SF33,hmmpanther:PTHR12011,Gene3D:2.60.40.10,SMART_domains:SM00409																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	87	37830909	37830909	C	A	1	0	0	0	0	0	1	0	0	353	718	25	2		2	ADGRA2	8	37830909	Nonsense_Mutation	SNP	C	C3N-02003_TP	9303392	37830909	107307727	152	28532											
KAT6A	0	.	GRCh38	chr8	41977079	41977079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatattgctcagagtagtccAccacttccccccgagctttc	8	11	7	15	1	1	1	1	0	0	1	4	3	3	1	5	0	2	3	5	0	2	5	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.1292T>C	p.Val431Ala	p.V431A	ENST00000396930	8/18	121	109	12	99	99	0	strelka-varscan-mutect	KAT6A,missense_variant,p.Val431Ala,ENST00000396930,NM_001099412.1;KAT6A,missense_variant,p.Val431Ala,ENST00000406337,NM_001099413.1;KAT6A,missense_variant,p.Val431Ala,ENST00000265713,NM_006766.3;KAT6A,missense_variant,p.Val431Ala,ENST00000485568,NM_001305878.1;KAT6A,non_coding_transcript_exon_variant,,ENST00000470574,;KAT6A,non_coding_transcript_exon_variant,,ENST00000463961,;	G	ENST00000396930	Transcript	missense_variant	1836/9285	1292/6015	431/2004	V/A	gTg/gCg		1		-1	KAT6A	HGNC	HGNC:13013	protein_coding	YES	CCDS6124.1	ENSP00000380136	Q92794		UPI000013D666	NM_001099412.1	deleterious(0.04)		8/18		hmmpanther:PTHR10615:SF26,hmmpanther:PTHR10615																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	87	41977079	41977079	A	G	1	0	0	0	0	1	0	0	0	7898	159	6	5		5	KAT6A	8	41977079	Missense_Mutation	SNP	A	C3N-02003_TP	4146170	41977079	103161557	153	28533											
PREX2	0	.	GRCh38	chr8	68083390	68083390	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagcacaaagccaagagagTaagttgtatgatttatgtgt	14	12	11	4	0	0	3	0	2	0	1	0	4	0	3	1	0	2	4	1	0	5	5	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.2027+2T>A		p.X676_splice	ENST00000288368		50	46	4	64	64	0	varscan-mutect	PREX2,splice_donor_variant,,ENST00000288368,NM_024870.2;RP11-403D15.2,intron_variant,,ENST00000526901,;PREX2,splice_donor_variant,,ENST00000529398,;PREX2,splice_donor_variant,,ENST00000517617,;	A	ENST00000288368	Transcript	splice_donor_variant	-/10750	2027/4821	676/1606				1		1	PREX2	HGNC	HGNC:22950	protein_coding	YES	CCDS6201.1	ENSP00000288368	Q70Z35		UPI0000375435	NM_024870.2				18/39																		HIGH	1	SNV	1			1										PASS		rs745454046	.												A	5	1	87	68083390	68083390	T	A	1	0	0	0	0	0	0	1	0	12611	1652	57	4		4	PREX2	8	68083390	Splice_Site	SNP	T	C3N-02003_TP	26106311	68083390	77055246	154	28534											
ZFHX4	0	.	GRCh38	chr8	76704464	76704464	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagaggacagtgacgtggaaAatctaacaggggagatcgtt	14	8	14	5	2	1	3	0	1	1	2	2	6	1	5	0	4	1	1	0	4	4	3	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.376A>T	p.Asn126Tyr	p.N126Y	ENST00000521891	2/11	269	255	14	218	218	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Asn126Tyr,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Asn126Tyr,ENST00000518282,;ZFHX4,missense_variant,p.Asn126Tyr,ENST00000520307,;ZFHX4,missense_variant,p.Asn126Tyr,ENST00000517585,;ZFHX4,missense_variant,p.Asn126Tyr,ENST00000523809,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	T	ENST00000521891	Transcript	missense_variant	824/14019	376/10851	126/3616	N/Y	Aat/Tat		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0)		2/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	87	76704464	76704464	A	T	1	0	0	0	0	1	0	0	0	18213	14	1	4		4	ZFHX4	8	76704464	Missense_Mutation	SNP	A	C3N-02003_TP	8621074	76704464	68434172	155	28535											
MATN2	0	.	GRCh38	chr8	97941899	97941899	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggatcagacgacttgcagaAgtaagattgctttgctgatg	11	11	12	7	2	1	4	1	1	0	3	1	6	1	5	0	1	3	4	0	1	2	4	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.835A>C	p.Ile279Leu	p.I279L	ENST00000254898	4/19	181	167	14	157	157	0	strelka-varscan-mutect	MATN2,missense_variant,p.Ile279Leu,ENST00000254898,NM_002380.3;MATN2,missense_variant,p.Ile279Leu,ENST00000521689,NM_030583.2;MATN2,missense_variant,p.Ile279Leu,ENST00000520016,;MATN2,missense_variant,p.Ile279Leu,ENST00000524308,;MATN2,missense_variant,p.Thr103Pro,ENST00000518154,;MATN2,splice_region_variant,,ENST00000522025,;MATN2,intron_variant,,ENST00000521041,;MATN2,splice_region_variant,,ENST00000523490,;	C	ENST00000254898	Transcript	missense_variant,splice_region_variant	1066/4106	835/2871	279/956	I/L	Atc/Ctc		1		1	MATN2	HGNC	HGNC:6908	protein_coding	YES	CCDS55264.1	ENSP00000254898	O00339	A0A140VKH7	UPI000021037B	NM_002380.3	tolerated(0.26)		4/19		Gene3D:2.10.25.10,hmmpanther:PTHR11132,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	97941899	97941899	A	C	1	0	0	0	0	1	0	0	0	9260	86	3	5		5	MATN2	8	97941899	Missense_Mutation	SNP	A	C3N-02003_TP	21237435	97941899	47196737	156	28536											
FER1L6	0	.	GRCh38	chr8	123980593	123980593	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcattcaggggcagaatcTtggtagaaattgctgtggaa	11	12	13	5	0	3	2	2	0	1	2	3	3	3	3	0	4	1	3	0	4	4	4			C3N-02003_TP	C3N-02003_NB	T	T																c.1192T>G	p.Leu398Val	p.L398V	ENST00000522917	11/41	333	311	22	346	345	1	strelka-varscan-mutect	FER1L6,missense_variant,p.Leu398Val,ENST00000522917,NM_001039112.2;FER1L6-AS1,downstream_gene_variant,,ENST00000518567,;	G	ENST00000522917	Transcript	missense_variant	1398/6051	1192/5574	398/1857	L/V	Ttg/Gtg	COSM1095833	1		1	FER1L6	HGNC	HGNC:28065	protein_coding	YES	CCDS43767.1	ENSP00000428280	Q2WGJ9		UPI0000E9B4AA	NM_001039112.2	deleterious(0)		11/41		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF37											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	87	123980593	123980593	T	G	1	0	0	0	0	1	0	0	0	5678	1606	56	5		5	FER1L6	8	123980593	Missense_Mutation	SNP	T	C3N-02003_TP	26038694	123980593	21158043	157	28537											
PLEC	0	.	GRCh38	chr8	143925192	143925192	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgaaggaggcgcgtttgctCtgcagctccgcctctgcact	5	9	13	14	4	2	0	0	0	2	0	3	2	3	1	2	2	4	5	2	2	1	1	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.5148G>A	p.=	p.Q1716Q	ENST00000322810	31/32	381	355	26	282	282	0	strelka-varscan-mutect	PLEC,synonymous_variant,p.=,ENST00000322810,NM_201380.3;PLEC,synonymous_variant,p.=,ENST00000345136,NM_201384.2;PLEC,synonymous_variant,p.=,ENST00000436759,NM_000445.4;PLEC,synonymous_variant,p.=,ENST00000354958,NM_201379.2;PLEC,synonymous_variant,p.=,ENST00000354589,NM_201382.3;PLEC,synonymous_variant,p.=,ENST00000357649,NM_201383.2;PLEC,synonymous_variant,p.=,ENST00000356346,NM_201378.3;PLEC,synonymous_variant,p.=,ENST00000398774,NM_201381.2;PLEC,synonymous_variant,p.=,ENST00000527096,;PLEC,intron_variant,,ENST00000527303,;	T	ENST00000322810	Transcript	synonymous_variant	5318/15249	5148/14055	1716/4684	Q	caG/caA		1		-1	PLEC	HGNC	HGNC:9069	protein_coding	YES	CCDS43772.1	ENSP00000323856	Q15149		UPI0000233FCD	NM_201380.3			31/32		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	87	143925192	143925192	C	T	1	0	0	0	0	0	0	0	1	12145	912	32	3		3	PLEC	8	143925192	Silent	SNP	C	C3N-02003_TP	19944599	143925192	1213444	158	28538											
DCAF10	0	.	GRCh38	chr9	37861184	37861184	+	Silent	SNP	T	T	G																															gaaggagctccagtgcgaccTgtctcacctcgctgttctct																								rs371412241		C3N-02003_TP	C3N-02003_NB	T	T																c.1356T>G	p.=	p.P452P	ENST00000377724	7/7	53	41	12	51	51	0	strelka-varscan-mutect	DCAF10,synonymous_variant,p.=,ENST00000242323,NM_001286810.1;DCAF10,synonymous_variant,p.=,ENST00000377724,NM_024345.4;DCAF10,non_coding_transcript_exon_variant,,ENST00000483167,;DCAF10,non_coding_transcript_exon_variant,,ENST00000478453,;DCAF10,downstream_gene_variant,,ENST00000461549,;RP11-613M10.9,intron_variant,,ENST00000540557,;	G	ENST00000377724	Transcript	synonymous_variant	1721/3862	1356/1680	452/559	P	ccT/ccG	rs371412241	1		1	DCAF10	HGNC	HGNC:23686	protein_coding	YES	CCDS6613.2	ENSP00000366953	Q5QP82		UPI000046FD58	NM_024345.4			7/7		hmmpanther:PTHR14588:SF2,hmmpanther:PTHR14588,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	LOW	1	SNV	1			1										PASS		rs371412241	.												G	2	3	87	37861184	37861184	T	G	1	0	0	0	0	0	0	0	1	4062	1567	55	5		5	DCAF10	9	37861184	Silent	SNP	T	C3N-02003_TP		37861184	100533533	159	28539	600	2									
DCAF10	0	.	GRCh38	chr9	37861185	37861185	+	Missense_Mutation	SNP	G	G	A																															aaggagctccagtgcgacctGtctcacctcgctgttctcta																								novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1357G>A	p.Val453Ile	p.V453I	ENST00000377724	7/7	53	41	12	52	52	0	strelka-varscan-mutect	DCAF10,missense_variant,p.Val280Ile,ENST00000242323,NM_001286810.1;DCAF10,missense_variant,p.Val453Ile,ENST00000377724,NM_024345.4;DCAF10,non_coding_transcript_exon_variant,,ENST00000483167,;DCAF10,non_coding_transcript_exon_variant,,ENST00000478453,;DCAF10,downstream_gene_variant,,ENST00000461549,;RP11-613M10.9,intron_variant,,ENST00000540557,;	A	ENST00000377724	Transcript	missense_variant	1722/3862	1357/1680	453/559	V/I	Gtc/Atc		1		1	DCAF10	HGNC	HGNC:23686	protein_coding	YES	CCDS6613.2	ENSP00000366953	Q5QP82		UPI000046FD58	NM_024345.4	tolerated(0.1)		7/7		hmmpanther:PTHR14588:SF2,hmmpanther:PTHR14588,Gene3D:2.130.10.10,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	37861185	37861185	G	A	1	0	0	0	0	1	0	0	0	4062	1377	48	3		3	DCAF10	9	37861185	Missense_Mutation	SNP	G	C3N-02003_TP	1	37861185	100533532	160	28540	600	2									
ROR2	0	.	GRCh38	chr9	91726724	91726724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatgtacagaatccccatCttgctgctgtctcggggacc	9	10	10	12	1	2	2	0	0	2	2	4	3	3	3	3	2	3	3	3	2	3	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1203G>C	p.Lys401Asn	p.K401N	ENST00000375708	8/9	446	405	41	456	456	0	strelka-varscan-mutect	ROR2,missense_variant,p.Lys401Asn,ENST00000375708,NM_004560.3;ROR2,missense_variant,p.Lys261Asn,ENST00000375715,;ROR2,non_coding_transcript_exon_variant,,ENST00000550066,;	G	ENST00000375708	Transcript	missense_variant	1402/4096	1203/2832	401/943	K/N	aaG/aaC		1		-1	ROR2	HGNC	HGNC:10257	protein_coding	YES	CCDS6691.1	ENSP00000364860	Q01974		UPI000013E8CA	NM_004560.3	tolerated(0.2)		8/9		PIRSF_domain:PIRSF000624,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF132,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	91726724	91726724	C	G	1	0	0	0	0	1	0	0	0	13704	912	32	4		4	ROR2	9	91726724	Missense_Mutation	SNP	C	C3N-02003_TP	53865539	91726724	46667993	161	28541											
GALNT12	0	.	GRCh38	chr9	98835358	98835358	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagaaaacctcgaatttTcctttagggtaagtatttca	13	13	9	6	1	1	1	1	0	0	1	3	4	2	1	2	2	1	2	2	2	6	7			C3N-02003_TP	C3N-02003_NB	T	T																c.1027T>C	p.Ser343Pro	p.S343P	ENST00000375011	5/10	215	181	34	345	345	0	strelka-varscan-mutect	GALNT12,missense_variant,p.Ser343Pro,ENST00000375011,NM_024642.4;GALNT12,upstream_gene_variant,,ENST00000615204,;GALNT12,downstream_gene_variant,,ENST00000610463,;	C	ENST00000375011	Transcript	missense_variant	1027/2735	1027/1746	343/581	S/P	Tcc/Ccc	COSM5410027	1		1	GALNT12	HGNC	HGNC:19877	protein_coding	YES	CCDS6737.1	ENSP00000364150	Q8IXK2		UPI000004D295	NM_024642.4	deleterious(0.02)		5/10		Gene3D:3.90.550.10,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF18,Superfamily_domains:SSF53448											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	87	98835358	98835358	T	C	1	0	0	0	0	1	0	0	0	6078	1783	62	5		5	GALNT12	9	98835358	Missense_Mutation	SNP	T	C3N-02003_TP	7108634	98835358	39559359	162	28542											
EPB41L4B	0	.	GRCh38	chr9	109267509	109267509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaggttgtttggttctgaaGaatagtatttaactcgaaag	13	14	11	3	1	1	2	0	1	1	1	2	4	1	2	0	2	1	4	0	2	7	7	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.497C>G	p.Ser166Cys	p.S166C	ENST00000374566	4/26	150	142	8	193	193	0	strelka-varscan-mutect	EPB41L4B,missense_variant,p.Ser166Cys,ENST00000374566,NM_019114.4;EPB41L4B,missense_variant,p.Ser166Cys,ENST00000374557,NM_018424.3;	C	ENST00000374566	Transcript	missense_variant	1015/5800	497/2703	166/900	S/C	tCt/tGt		1		-1	EPB41L4B	HGNC	HGNC:19818	protein_coding	YES	CCDS43859.1	ENSP00000363694	Q9H329		UPI0000458994	NM_019114.4	deleterious(0)		4/26		Gene3D:1.20.80.10,Prints_domain:PR00661,PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF18,SMART_domains:SM00295																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	109267509	109267509	G	C	1	0	0	0	0	1	0	0	0	5003	942	33	4		4	EPB41L4B	9	109267509	Missense_Mutation	SNP	G	C3N-02003_TP	10432151	109267509	29127208	163	28543											
ANAPC2	0	.	GRCh38	chr9	137183755	137183755	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtcctctccaggcagtacTtgaggtcctcgatggctggc	5	10	12	14	2	1	1	0	1	1	0	5	2	3	1	4	4	1	3	4	4	1	2	rs770005231		C3N-02003_TP	C3N-02003_NB	T	T																c.1085A>C	p.Lys362Thr	p.K362T	ENST00000323927	5/13	146	130	16	119	119	0	strelka-varscan-mutect	ANAPC2,missense_variant,p.Lys362Thr,ENST00000323927,NM_013366.3;SSNA1,upstream_gene_variant,,ENST00000322310,NM_003731.2;SSNA1,upstream_gene_variant,,ENST00000464553,;ANAPC2,upstream_gene_variant,,ENST00000483432,;ANAPC2,non_coding_transcript_exon_variant,,ENST00000495611,;ANAPC2,downstream_gene_variant,,ENST00000618649,;SSNA1,upstream_gene_variant,,ENST00000459860,;ANAPC2,upstream_gene_variant,,ENST00000471131,;SSNA1,upstream_gene_variant,,ENST00000463511,;	G	ENST00000323927	Transcript	missense_variant	1090/2632	1085/2469	362/822	K/T	aAg/aCg	rs770005231	1		-1	ANAPC2	HGNC	HGNC:19989	protein_coding	YES	CCDS7033.1	ENSP00000314004	Q9UJX6		UPI0000043E1B	NM_013366.3	deleterious(0)		5/13		hmmpanther:PTHR11932:SF73,hmmpanther:PTHR11932																	MODERATE	1	SNV	1			1										PASS		rs770005231	.												G	3	3	87	137183755	137183755	T	G	1	0	0	0	0	1	0	0	0	701	1609	56	5		5	ANAPC2	9	137183755	Missense_Mutation	SNP	T	C3N-02003_TP	27916246	137183755	1210962	164	28544											
NOXA1	0	.	GRCh38	chr9	137431292	137431292	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggccccctcgatgcagAgacagaggtcggtgctgacc	8	5	14	14	2	0	3	0	1	0	2	2	5	0	3	4	3	2	2	4	3	0	0	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.755A>G	p.Glu252Gly	p.E252G	ENST00000341349	8/14	233	196	37	198	198	0	strelka-varscan-mutect	NOXA1,missense_variant,p.Glu252Gly,ENST00000341349,NM_001256067.1,NM_006647.1;NOXA1,missense_variant,p.Glu196Gly,ENST00000392815,NM_001256068.1;ENTPD8,downstream_gene_variant,,ENST00000371506,NM_001033113.1;ENTPD8,downstream_gene_variant,,ENST00000344119,NM_198585.2;ENTPD8,downstream_gene_variant,,ENST00000472938,;ENTPD8,downstream_gene_variant,,ENST00000461823,;	G	ENST00000341349	Transcript	missense_variant	935/1678	755/1452	252/483	E/G	gAg/gGg		1		1	NOXA1	HGNC	HGNC:10668	protein_coding	YES	CCDS7042.1	ENSP00000342848	Q86UR1		UPI0000074717	NM_001256067.1,NM_006647.1	deleterious(0.05)		8/14		hmmpanther:PTHR15175:SF4,hmmpanther:PTHR15175																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	137431292	137431292	A	G	1	0	0	0	0	1	0	0	0	10606	304	11	5		5	NOXA1	9	137431292	Missense_Mutation	SNP	A	C3N-02003_TP	247537	137431292	963425	165	28545											
CACNA1B	0	.	GRCh38	chr9	137917422	137917422	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggagggctggactgacatCctctataatgtgagtggcgt	9	11	14	7	1	1	2	0	2	1	0	2	4	2	4	1	4	0	1	1	4	2	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.957C>T	p.=	p.I319I	ENST00000371372	6/47	91	83	8	92	92	0	strelka-varscan-mutect	CACNA1B,synonymous_variant,p.=,ENST00000371372,NM_000718.3;CACNA1B,synonymous_variant,p.=,ENST00000371363,;CACNA1B,synonymous_variant,p.=,ENST00000371355,;CACNA1B,synonymous_variant,p.=,ENST00000371357,;CACNA1B,synonymous_variant,p.=,ENST00000277549,;CACNA1B,synonymous_variant,p.=,ENST00000277551,NM_001243812.1;	T	ENST00000371372	Transcript	synonymous_variant	1102/9790	957/7020	319/2339	I	atC/atT		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3			6/47		Pfam_domain:PF00520,Prints_domain:PR00167,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161,Superfamily_domains:SSF81324																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	87	137917422	137917422	C	T	1	0	0	0	0	0	0	0	1	2227	845	30	3		3	CACNA1B	9	137917422	Silent	SNP	C	C3N-02003_TP	486130	137917422	477295	166	28546											
APBB1IP	0	.	GRCh38	chr10	26536107	26536107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacatctatcattgtaccaGaactggaaggagctctttat	13	12	8	8	0	3	1	1	0	2	1	3	4	3	3	1	2	4	2	1	2	6	5			C3N-02003_TP	C3N-02003_NB	G	G																c.934G>A	p.Glu312Lys	p.E312K	ENST00000376236	10/15	83	76	7	167	167	0	strelka-varscan-mutect	APBB1IP,missense_variant,p.Glu312Lys,ENST00000376236,NM_019043.3;	A	ENST00000376236	Transcript	missense_variant	1389/2771	934/2001	312/666	E/K	Gaa/Aaa	COSM3806970,COSM5208041	1		1	APBB1IP	HGNC	HGNC:17379	protein_coding	YES	CCDS31167.1	ENSP00000365411	Q7Z5R6		UPI00001AF165	NM_019043.3	deleterious(0)		10/15		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF14,SMART_domains:SM00233,Superfamily_domains:SSF50729											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	87	26536107	26536107	G	A	1	0	0	0	0	1	0	0	0	880	943	33	3		3	APBB1IP	10	26536107	Missense_Mutation	SNP	G	C3N-02003_TP		26536107	107261315	167	28547											
BMS1	0	.	GRCh38	chr10	42784427	42784427	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccagaagaaacacagaaaGaaaaacagtggacccaaagc	22	1	9	9	0	0	4	0	0	0	4	0	6	0	5	2	1	3	0	2	1	6	0	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.33G>A	p.=	p.K11K	ENST00000374518	2/23	127	118	9	111	111	0	varscan-mutect	BMS1,synonymous_variant,p.=,ENST00000374518,NM_014753.3;	A	ENST00000374518	Transcript	synonymous_variant	96/7753	33/3849	11/1282	K	aaG/aaA		1		1	BMS1	HGNC	HGNC:23505	protein_coding	YES	CCDS7199.1	ENSP00000363642	Q14692		UPI0000126A3E	NM_014753.3			2/23		hmmpanther:PTHR12858:SF2,hmmpanther:PTHR12858																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	42784427	42784427	G	A	1	0	0	0	0	0	0	0	1	1627	933	33	3		3	BMS1	10	42784427	Silent	SNP	G	C3N-02003_TP	16248320	42784427	91012995	168	28548											
AGAP14P	0	.	GRCh38	chr10	46358544	46358544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgcacggcgctccatctgGcctgccgcaaggggaatgtg	6	7	15	13	3	1	0	0	0	1	0	2	1	2	1	3	4	2	4	3	4	2	0	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1888G>T	p.Ala630Ser	p.A630S	ENST00000624701	9/9	592	554	38	605	605	0	varscan-mutect	AGAP14P,missense_variant,p.Ala630Ser,ENST00000624701,;	T	ENST00000624701	Transcript	missense_variant	1888/2058	1888/2058	630/685	A/S	Gcc/Tcc		1		1	AGAP14P	HGNC	HGNC:23660	protein_coding	YES		ENSP00000485140		A0A096LNP0	UPI000514C5BF		tolerated(0.15)		9/9		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF213,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	87	46358544	46358544	G	T	1	0	0	0	0	1	0	0	0	444	1203	42	2		2	AGAP14P	10	46358544	Missense_Mutation	SNP	G	C3N-02003_TP	3574117	46358544	87438878	169	28549											
KAT6B	0	.	GRCh38	chr10	74842971	74842971	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgccatgcggtcagtacTtcccatgggttggataagaa	10	11	11	9	1	2	1	1	0	1	1	3	2	3	2	2	3	3	2	2	3	3	4	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.114T>G	p.=	p.T38T	ENST00000287239	3/18	420	384	36	463	463	0	strelka-varscan-mutect	KAT6B,synonymous_variant,p.=,ENST00000287239,NM_012330.3;KAT6B,synonymous_variant,p.=,ENST00000372711,NM_001256468.1;KAT6B,synonymous_variant,p.=,ENST00000372724,NM_001256469.1;KAT6B,synonymous_variant,p.=,ENST00000372725,;KAT6B,synonymous_variant,p.=,ENST00000372714,;KAT6B,downstream_gene_variant,,ENST00000604130,;	G	ENST00000287239	Transcript	synonymous_variant	603/8287	114/6222	38/2073	T	acT/acG		1		1	KAT6B	HGNC	HGNC:17582	protein_coding	YES	CCDS7345.1	ENSP00000287239	Q8WYB5		UPI000013DEA0	NM_012330.3			3/18		hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF73																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	87	74842971	74842971	T	G	1	0	0	0	0	0	0	0	1	7899	1596	56	5		5	KAT6B	10	74842971	Silent	SNP	T	C3N-02003_TP	28484427	74842971	58954451	170	28550											
DUSP13	0	.	GRCh38	chr10	75097868	75097868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggcctccggaggtcctgcTtctgcagtgagtccatcctg	4	11	13	13	1	1	1	0	1	1	0	5	2	5	2	5	3	2	2	5	3	0	1	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.167A>G	p.Lys56Arg	p.K56R	ENST00000372700	2/4	52	46	6	46	46	0	strelka-varscan-mutect	DUSP13,missense_variant,p.Lys6Arg,ENST00000491677,;DUSP13,missense_variant,p.Lys142Arg,ENST00000478873,;DUSP13,missense_variant,p.Lys6Arg,ENST00000607131,;DUSP13,missense_variant,p.Lys28Arg,ENST00000605915,;DUSP13,missense_variant,p.Lys6Arg,ENST00000472493,NM_016364.3;DUSP13,missense_variant,p.Lys56Arg,ENST00000372700,NM_001007272.1;DUSP13,missense_variant,p.Lys184Arg,ENST00000607487,;DUSP13,missense_variant,p.Lys6Arg,ENST00000464872,;DUSP13,3_prime_UTR_variant,,ENST00000372702,NM_001007271.1;SAMD8,upstream_gene_variant,,ENST00000447533,;DUSP13,downstream_gene_variant,,ENST00000473072,;DUSP13,non_coding_transcript_exon_variant,,ENST00000607009,;DUSP13,3_prime_UTR_variant,,ENST00000479884,NM_001320842.1;DUSP13,3_prime_UTR_variant,,ENST00000494588,;DUSP13,3_prime_UTR_variant,,ENST00000394707,;DUSP13,3_prime_UTR_variant,,ENST00000308475,NM_001320843.1;	C	ENST00000372700	Transcript	missense_variant	201/781	167/747	56/248	K/R	aAg/aGg		1		-1	DUSP13	HGNC	HGNC:19681	protein_coding	YES	CCDS31224.1	ENSP00000361785	Q9UII6		UPI0000481AED	NM_001007272.1	tolerated(0.48)		2/4																			MODERATE	1	SNV	3			1										PASS		.	.												C	3	2	87	75097868	75097868	T	C	1	0	0	0	0	1	0	0	0	4635	1609	56	5		5	DUSP13	10	75097868	Missense_Mutation	SNP	T	C3N-02003_TP	254897	75097868	58699554	171	28551											
KCNMA1	0	.	GRCh38	chr10	77086489	77086489	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcacctcttcctccttaccTtgactcttgcaagatcatgt	7	15	5	14	0	4	2	2	1	2	1	6	2	6	2	4	0	2	1	4	0	2	4	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1439A>C	p.Lys480Thr	p.K480T	ENST00000286628	11/28	389	354	35	425	424	1	strelka-varscan-mutect	KCNMA1,missense_variant,p.Lys341Thr,ENST00000604624,NM_001322832.1,NM_001322829.1;KCNMA1,missense_variant,p.Lys480Thr,ENST00000286627,NM_002247.3;KCNMA1,missense_variant,p.Lys480Thr,ENST00000286628,NM_001161352.1;KCNMA1,missense_variant,p.Lys312Thr,ENST00000354353,;KCNMA1,missense_variant,p.Lys312Thr,ENST00000406533,NM_001322837.1,NM_001271519.1;KCNMA1,missense_variant,p.Lys480Thr,ENST00000372443,;KCNMA1,missense_variant,p.Lys480Thr,ENST00000372440,NM_001014797.2;KCNMA1,missense_variant,p.Lys480Thr,ENST00000404771,;KCNMA1,missense_variant,p.Lys454Thr,ENST00000457953,;KCNMA1,missense_variant,p.Lys480Thr,ENST00000626620,NM_001161353.1;KCNMA1,missense_variant,p.Lys415Thr,ENST00000372437,;KCNMA1,missense_variant,p.Lys454Thr,ENST00000372421,;KCNMA1,missense_variant,p.Lys417Thr,ENST00000372408,;KCNMA1,missense_variant,p.Lys431Thr,ENST00000372403,;KCNMA1,missense_variant,p.Lys312Thr,ENST00000404857,NM_001271518.1;KCNMA1,missense_variant,p.Lys159Thr,ENST00000434208,;KCNMA1,upstream_gene_variant,,ENST00000484507,;	G	ENST00000286628	Transcript	missense_variant,splice_region_variant	1439/6100	1439/3711	480/1236	K/T	aAg/aCg		1		-1	KCNMA1	HGNC	HGNC:6284	protein_coding	YES	CCDS60569.1	ENSP00000286628	Q12791		UPI00003519E7	NM_001161352.1	tolerated(0.09)		11/28		Gene3D:3.40.50.720,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF28,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	77086489	77086489	T	G	1	0	0	0	0	1	0	0	0	7990	1623	56	5		5	KCNMA1	10	77086489	Missense_Mutation	SNP	T	C3N-02003_TP	1988621	77086489	56710933	172	28552											
MMRN2	0	.	GRCh38	chr10	86943518	86943518	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accttgctaatctgatcgaaAgtctcgtccgattcggagta	10	12	9	10	4	2	1	0	1	2	0	6	4	3	2	2	1	1	2	2	1	3	4	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.1266T>G	p.=	p.T422T	ENST00000372027	6/7	384	353	31	348	346	2	strelka-varscan-mutect	MMRN2,synonymous_variant,p.=,ENST00000372027,NM_024756.2;MMRN2,downstream_gene_variant,,ENST00000610081,;MMRN2,downstream_gene_variant,,ENST00000609457,;MMRN2,downstream_gene_variant,,ENST00000474994,;MMRN2,downstream_gene_variant,,ENST00000488950,;MMRN2,downstream_gene_variant,,ENST00000608090,;MMRN2,downstream_gene_variant,,ENST00000608753,;	C	ENST00000372027	Transcript	synonymous_variant	1588/4375	1266/2850	422/949	T	acT/acG		1		-1	MMRN2	HGNC	HGNC:19888	protein_coding	YES	CCDS7379.1	ENSP00000361097	Q9H8L6		UPI000013F046	NM_024756.2			6/7		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF6																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	87	86943518	86943518	A	C	1	0	0	0	0	0	0	0	1	9634	59	3	5		5	MMRN2	10	86943518	Silent	SNP	A	C3N-02003_TP	9857029	86943518	46853904	173	28553											
LCOR	0	.	GRCh38	chr10	96983655	96983655	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaaaaggaagctgcacaAgtaaaccccataatgccaaa	19	5	7	10	0	1	1	1	0	0	1	1	2	1	2	3	1	4	3	3	1	8	2	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.2265A>C	p.Gln755His	p.Q755H	ENST00000286067	1/1	229	207	22	195	195	0	strelka-varscan-mutect	LCOR,missense_variant,p.Gln1037His,ENST00000421806,;LCOR,missense_variant,p.Gln755His,ENST00000286067,NM_015652.2;	C	ENST00000286067	Transcript	missense_variant	2372/4542	2265/3744	755/1247	Q/H	caA/caC		1		1	LCOR	HGNC	HGNC:29503	protein_coding	YES	CCDS7452.1	ENSP00000286067	Q8N655		UPI000006F242	NM_015652.2	tolerated(0.11)		1/1		hmmpanther:PTHR14931,hmmpanther:PTHR14931:SF2																	MODERATE	1	SNV				1										PASS		rs1236204556	.												C	3	2	87	96983655	96983655	A	C	1	0	0	0	0	1	0	0	0	8595	69	3	5		5	LCOR	10	96983655	Missense_Mutation	SNP	A	C3N-02003_TP	10040137	96983655	36813767	174	28554											
CFAP43	0	.	GRCh38	chr10	104131430	104131430	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatatctttttgattgctgaActttccaagttttttgagta	9	21	6	5	0	1	3	0	3	1	0	2	3	2	3	1	0	2	3	1	0	5	10	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.4732T>G	p.Phe1578Val	p.F1578V	ENST00000357060	37/38	145	123	22	205	205	0	strelka-varscan-mutect	CFAP43,missense_variant,p.Phe1578Val,ENST00000357060,NM_025145.5;CFAP43,missense_variant,p.Phe910Val,ENST00000434629,;CFAP43,missense_variant,p.Phe427Val,ENST00000457071,;CFAP43,downstream_gene_variant,,ENST00000479392,;	C	ENST00000357060	Transcript	missense_variant	4848/5365	4732/4998	1578/1665	F/V	Ttc/Gtc		1		-1	CFAP43	HGNC	HGNC:26684	protein_coding	YES	CCDS31281.1	ENSP00000349568	Q8NDM7		UPI0000D60FC7	NM_025145.5	tolerated(0.5)		37/38		hmmpanther:PTHR14885,hmmpanther:PTHR14885:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	104131430	104131430	A	C	1	0	0	0	0	1	0	0	0	3018	43	2	5		5	CFAP43	10	104131430	Missense_Mutation	SNP	A	C3N-02003_TP	7147775	104131430	29665992	175	28555											
CTBP2	0	.	GRCh38	chr10	125027261	125027261	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcattttacctccaggatCccggtacaggtgaccggcgt	8	10	11	12	3	1	1	1	1	0	0	3	3	3	2	4	4	2	1	4	4	2	3	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.499G>T	p.Asp167Tyr	p.D167Y	ENST00000309035	1/9	183	170	13	148	148	0	strelka-mutect	CTBP2,missense_variant,p.Asp167Tyr,ENST00000309035,NM_022802.2;CTBP2,intron_variant,,ENST00000337195,NM_001329.2;CTBP2,intron_variant,,ENST00000411419,NM_001083914.1;CTBP2,intron_variant,,ENST00000494626,NM_001290214.1;CTBP2,intron_variant,,ENST00000531469,NM_001290215.1;CTBP2,intron_variant,,ENST00000460976,;CTBP2,intron_variant,,ENST00000493552,;	A	ENST00000309035	Transcript	missense_variant	630/3669	499/2958	167/985	D/Y	Gat/Tat		1		-1	CTBP2	HGNC	HGNC:2495	protein_coding	YES	CCDS7644.1	ENSP00000311825	P56545		UPI000013EE11	NM_022802.2	deleterious_low_confidence(0.03)		1/9																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	125027261	125027261	C	A	1	0	0	0	0	1	0	0	0	3804	855	30	2		2	CTBP2	10	125027261	Missense_Mutation	SNP	C	C3N-02003_TP	20895831	125027261	8770161	176	28556											
CRACR2B	0	.	GRCh38	chr11	830086	830086	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacgcgcgtcggcctgcctgGaggaggcggcccgggagcgc	4	4	19	14	7	0	0	0	0	0	0	1	3	0	3	3	6	3	0	3	6	1	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.559G>T	p.Glu187Ter	p.E187*	ENST00000525077	4/9	198	186	12	187	187	0	strelka-varscan-mutect	CRACR2B,stop_gained,p.Glu187Ter,ENST00000528542,;CRACR2B,stop_gained,p.Glu187Ter,ENST00000450448,NM_173584.4;CRACR2B,stop_gained,p.Glu187Ter,ENST00000525077,NM_001286606.1;PNPLA2,downstream_gene_variant,,ENST00000336615,NM_020376.3;CD151,upstream_gene_variant,,ENST00000397420,;CD151,upstream_gene_variant,,ENST00000322008,NM_139029.1,NM_004357.4;CD151,upstream_gene_variant,,ENST00000397421,NM_139030.3,NM_001039490.1;CRACR2B,downstream_gene_variant,,ENST00000527089,;CD151,upstream_gene_variant,,ENST00000527341,;CD151,upstream_gene_variant,,ENST00000524748,;CD151,upstream_gene_variant,,ENST00000526693,;CRACR2B,downstream_gene_variant,,ENST00000533803,;CD151,upstream_gene_variant,,ENST00000529810,;CRACR2B,downstream_gene_variant,,ENST00000528315,;CD151,upstream_gene_variant,,ENST00000525718,;CD151,upstream_gene_variant,,ENST00000525333,;CD151,upstream_gene_variant,,ENST00000528867,;CRACR2B,downstream_gene_variant,,ENST00000530183,;AP006621.8,intron_variant,,ENST00000532946,;CRACR2B,non_coding_transcript_exon_variant,,ENST00000528694,;CRACR2B,non_coding_transcript_exon_variant,,ENST00000527763,;CRACR2B,non_coding_transcript_exon_variant,,ENST00000530688,;PNPLA2,downstream_gene_variant,,ENST00000525250,;CD151,upstream_gene_variant,,ENST00000532045,;CD151,upstream_gene_variant,,ENST00000530726,;PNPLA2,downstream_gene_variant,,ENST00000529255,;CRACR2B,downstream_gene_variant,,ENST00000534191,;CD151,upstream_gene_variant,,ENST00000526661,;CRACR2B,downstream_gene_variant,,ENST00000530737,;CRACR2B,upstream_gene_variant,,ENST00000526531,;CRACR2B,downstream_gene_variant,,ENST00000534606,;CD151,upstream_gene_variant,,ENST00000531999,;CD151,upstream_gene_variant,,ENST00000525868,;CD151,upstream_gene_variant,,ENST00000530155,;	T	ENST00000525077	Transcript	stop_gained	660/1578	559/1200	187/399	E/*	Gag/Tag		1		1	CRACR2B	HGNC	HGNC:28703	protein_coding	YES	CCDS65995.1	ENSP00000435299	Q8N4Y2		UPI0001CF33F4	NM_001286606.1			4/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22621																	HIGH	1	SNV	1			1										PASS		rs1339082587	.												T	4	4	87	830086	830086	G	T	1	0	0	0	0	0	1	0	0	3644	1175	41	2		2	CRACR2B	11	830086	Nonsense_Mutation	SNP	G	C3N-02003_TP		830086	134256536	177	28557											
TRPM5	0	.	GRCh38	chr11	2411686	2411686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgcttgtgtatggcaaaGatatggatcagccgcagcgt	10	10	13	8	2	1	1	1	0	0	1	1	2	1	2	1	2	4	5	1	2	3	3	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.2556C>T	p.=	p.I852I	ENST00000155858	17/24	329	303	26	286	286	0	strelka-varscan-mutect	TRPM5,synonymous_variant,p.=,ENST00000155858,NM_014555.3;TRPM5,synonymous_variant,p.=,ENST00000533881,;TRPM5,synonymous_variant,p.=,ENST00000533060,;TRPM5,synonymous_variant,p.=,ENST00000528453,;AC124057.5,downstream_gene_variant,,ENST00000433035,;	A	ENST00000155858	Transcript	synonymous_variant	2565/3929	2556/3498	852/1165	I	atC/atT		1		-1	TRPM5	HGNC	HGNC:14323	protein_coding	YES	CCDS31340.1	ENSP00000155858	Q9NZQ8		UPI000003B069	NM_014555.3			17/24		Transmembrane_helices:TMhelix,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF5,Pfam_domain:PF00520																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	2411686	2411686	G	A	1	0	0	0	0	0	0	0	1	17095	932	33	3		3	TRPM5	11	2411686	Silent	SNP	G	C3N-02003_TP	1581600	2411686	132674936	178	28558											
TRIM6	0	.	GRCh38	chr11	5611048	5611048	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgctcaaaatcacagtgcTtactccaggtatcagcctca	11	12	6	12	0	4	0	4	0	0	0	5	0	5	0	2	1	4	3	2	1	4	3			C3N-02003_TP	C3N-02003_NB	T	T																c.1257T>G	p.=	p.A419A	ENST00000380097	8/8	402	376	26	426	425	1	strelka-varscan-mutect	TRIM6,synonymous_variant,p.=,ENST00000380097,NM_001003818.2;TRIM6,synonymous_variant,p.=,ENST00000278302,NM_058166.4;TRIM6,synonymous_variant,p.=,ENST00000621176,;TRIM6,synonymous_variant,p.=,ENST00000445329,;TRIM6,synonymous_variant,p.=,ENST00000380107,;TRIM6,synonymous_variant,p.=,ENST00000507320,;TRIM6,synonymous_variant,p.=,ENST00000506134,NM_001198644.1;TRIM6,synonymous_variant,p.=,ENST00000515022,NM_001198645.1;TRIM6-TRIM34,intron_variant,,ENST00000354852,NM_001003819.3;HBG2,intron_variant,,ENST00000380259,;TRIM6,downstream_gene_variant,,ENST00000424369,;AC015691.13,intron_variant,,ENST00000394793,;TRIM6,non_coding_transcript_exon_variant,,ENST00000481603,;TRIM6,non_coding_transcript_exon_variant,,ENST00000511284,;TRIM6,non_coding_transcript_exon_variant,,ENST00000469187,;	G	ENST00000380097	Transcript	synonymous_variant	1499/3403	1257/1551	419/516	A	gcT/gcG	COSM4033943	1		1	TRIM6	HGNC	HGNC:16277	protein_coding	YES	CCDS31389.1	ENSP00000369440	Q9C030		UPI000041A255	NM_001003818.2			8/8		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF51,SMART_domains:SM00449,Superfamily_domains:SSF49899											1						LOW	1	SNV	1		1	1										PASS		.	.												G	2	3	87	5611048	5611048	T	G	1	0	0	0	0	0	0	0	1	17026	1596	56	5		5	TRIM6	11	5611048	Silent	SNP	T	C3N-02003_TP	3199362	5611048	129475574	179	28559											
DCHS1	0	.	GRCh38	chr11	6640615	6640615	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagccccaccatctcgtgcTtgcaccaccagttcatggac	8	9	8	16	1	2	1	1	1	1	0	3	2	2	2	5	1	3	3	5	1	0	2	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.999A>C	p.Gln333His	p.Q333H	ENST00000299441	2/21	309	285	24	266	266	0	strelka-varscan-mutect	DCHS1,missense_variant,p.Gln333His,ENST00000299441,NM_003737.3;	G	ENST00000299441	Transcript	missense_variant	1411/10765	999/9897	333/3298	Q/H	caA/caC		1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3	deleterious(0)		2/21		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF335,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	6640615	6640615	T	G	1	0	0	0	0	1	0	0	0	4090	1606	56	5		5	DCHS1	11	6640615	Missense_Mutation	SNP	T	C3N-02003_TP	1029567	6640615	128446007	180	28560											
ST5	0	.	GRCh38	chr11	8714002	8714002	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagctgtgcctcacctttGaacctgtcatcagagtcgct	7	11	11	12	1	3	2	3	1	0	1	4	3	3	3	3	1	3	2	3	1	1	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1983C>T	p.=	p.F661F	ENST00000534127	11/23	241	225	16	193	193	0	strelka-varscan-mutect	ST5,synonymous_variant,p.=,ENST00000534127,NM_005418.3;ST5,synonymous_variant,p.=,ENST00000313726,NM_213618.1;ST5,synonymous_variant,p.=,ENST00000530991,;ST5,synonymous_variant,p.=,ENST00000526757,NM_139157.2;ST5,synonymous_variant,p.=,ENST00000530438,;ST5,synonymous_variant,p.=,ENST00000526099,;ST5,synonymous_variant,p.=,ENST00000533020,;ST5,synonymous_variant,p.=,ENST00000626808,;ST5,synonymous_variant,p.=,ENST00000528527,;ST5,intron_variant,,ENST00000530593,;ST5,downstream_gene_variant,,ENST00000526057,;ST5,downstream_gene_variant,,ENST00000528196,;ST5,downstream_gene_variant,,ENST00000530580,;ST5,downstream_gene_variant,,ENST00000533225,;ST5,downstream_gene_variant,,ENST00000527510,;ST5,downstream_gene_variant,,ENST00000531093,;ST5,downstream_gene_variant,,ENST00000531060,;RPL27A,intron_variant,,ENST00000531102,;ST5,downstream_gene_variant,,ENST00000533425,;ST5,downstream_gene_variant,,ENST00000532651,;ST5,upstream_gene_variant,,ENST00000526837,;ST5,synonymous_variant,p.=,ENST00000532734,;ST5,non_coding_transcript_exon_variant,,ENST00000530559,;ST5,upstream_gene_variant,,ENST00000526701,;ST5,upstream_gene_variant,,ENST00000530338,;ST5,downstream_gene_variant,,ENST00000527870,;	A	ENST00000534127	Transcript	synonymous_variant	2369/4545	1983/3414	661/1137	F	ttC/ttT		1		-1	ST5	HGNC	HGNC:11350	protein_coding	YES	CCDS7791.1	ENSP00000433528	P78524		UPI00001AECB8	NM_005418.3			11/23		hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF5																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	8714002	8714002	G	A	1	0	0	0	0	0	0	0	1	15598	1304	45	3		3	ST5	11	8714002	Silent	SNP	G	C3N-02003_TP	2073387	8714002	126372620	181	28561											
SWAP70	0	.	GRCh38	chr11	9749924	9749924	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctttcactgaggcagaacTtgaagagagagagaagaact	16	7	12	6	0	1	7	1	2	0	5	1	9	1	7	0	1	3	2	0	1	4	2	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1712T>G	p.Leu571Arg	p.L571R	ENST00000318950	12/12	233	221	12	263	263	0	strelka-varscan-mutect	SWAP70,missense_variant,p.Leu571Arg,ENST00000318950,NM_015055.3;SWAP70,missense_variant,p.Leu513Arg,ENST00000447399,NM_001297714.1;RP11-540A21.2,downstream_gene_variant,,ENST00000500698,;SWAP70,intron_variant,,ENST00000534562,;	G	ENST00000318950	Transcript	missense_variant	1815/4882	1712/1758	571/585	L/R	cTt/cGt		1		1	SWAP70	HGNC	HGNC:17070	protein_coding	YES	CCDS31426.1	ENSP00000315630	Q9UH65		UPI0000073652	NM_015055.3	deleterious(0)		12/12		hmmpanther:PTHR14383,hmmpanther:PTHR14383:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	9749924	9749924	T	G	1	0	0	0	0	1	0	0	0	15810	1609	56	5		5	SWAP70	11	9749924	Missense_Mutation	SNP	T	C3N-02003_TP	1035922	9749924	125336698	182	28562											
PIK3C2A	0	.	GRCh38	chr11	17097251	17097251	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtggcaatgcttcccaaacTtgattcaataagcctacaaa	14	11	6	10	0	1	1	1	1	0	0	2	1	2	1	2	1	4	2	2	1	6	5	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.4132A>C	p.Ser1378Arg	p.S1378R	ENST00000265970	26/32	117	107	10	166	166	0	strelka-varscan-mutect	PIK3C2A,missense_variant,p.Ser1378Arg,ENST00000265970,NM_001321378.1,NM_002645.2;PIK3C2A,non_coding_transcript_exon_variant,,ENST00000531428,;	G	ENST00000265970	Transcript	missense_variant	4132/8227	4132/5061	1378/1686	S/R	Agt/Cgt		1		-1	PIK3C2A	HGNC	HGNC:8971	protein_coding	YES	CCDS7824.1	ENSP00000265970	O00443	L7RRS0	UPI000013D6B3	NM_001321378.1,NM_002645.2	deleterious(0)		26/32		Gene3D:1.10.1070.11,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF28,SMART_domains:SM00146,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	17097251	17097251	T	G	1	0	0	0	0	1	0	0	0	12004	1609	56	5		5	PIK3C2A	11	17097251	Missense_Mutation	SNP	T	C3N-02003_TP	7347327	17097251	117989371	183	28563											
KCNJ11	0	.	GRCh38	chr11	17387674	17387674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggccagtgggcactcctCagtcaccatgcgccccccaa	8	6	10	17	1	2	0	2	0	0	0	3	1	3	0	6	2	1	1	6	2	1	0			C3N-02003_TP	C3N-02003_NB	C	C																c.418G>A	p.Glu140Lys	p.E140K	ENST00000339994	1/1	477	439	38	425	425	0	strelka-varscan-mutect	KCNJ11,missense_variant,p.Glu140Lys,ENST00000339994,NM_000525.3;KCNJ11,missense_variant,p.Glu53Lys,ENST00000528731,NM_001166290.1;KCNJ11,missense_variant,p.Glu53Lys,ENST00000526912,;KCNJ11,missense_variant,p.Glu146Lys,ENST00000528992,;RP1-239B22.5,downstream_gene_variant,,ENST00000568280,;KCNJ11,upstream_gene_variant,,ENST00000526747,;	T	ENST00000339994	Transcript	missense_variant	986/2801	418/1173	140/390	E/K	Gag/Aag	COSM687068	1		-1	KCNJ11	HGNC	HGNC:6257	protein_coding	YES	CCDS31436.1	ENSP00000345708	Q14654	B2RC52	UPI0000161990	NM_000525.3	deleterious(0)		1/1		hmmpanther:PTHR11767:SF44,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:1.10.287.70,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81324,Prints_domain:PR01320											1						MODERATE	1	SNV			1	1										PASS		.	.												T	3	4	87	17387674	17387674	C	T	1	0	0	0	0	1	0	0	0	7961	835	29	3		3	KCNJ11	11	17387674	Missense_Mutation	SNP	C	C3N-02003_TP	290423	17387674	117698948	184	28564											
KCNA4	0	.	GRCh38	chr11	30011449	30011449	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagtaaggcaaaatggaGacaatgtcaatgatgttcat	17	10	10	4	0	2	3	2	2	0	1	2	4	2	3	0	2	0	3	0	2	6	2	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1230C>T	p.=	p.V410V	ENST00000328224	2/2	152	129	23	127	127	0	strelka-varscan-mutect	KCNA4,synonymous_variant,p.=,ENST00000328224,NM_002233.3;KCNA4,downstream_gene_variant,,ENST00000526518,;	A	ENST00000328224	Transcript	synonymous_variant	2464/4172	1230/1962	410/653	V	gtC/gtT		1		-1	KCNA4	HGNC	HGNC:6222	protein_coding	YES	CCDS41629.1	ENSP00000328511	P22459		UPI00001649FF	NM_002233.3			2/2		Gene3D:1.20.120.350,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF45,Superfamily_domains:SSF81324																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	30011449	30011449	G	A	1	0	0	0	0	0	0	0	1	7921	929	33	3		3	KCNA4	11	30011449	Silent	SNP	G	C3N-02003_TP	12623775	30011449	105075173	185	28565											
KIAA1549L	0	.	GRCh38	chr11	33561691	33561691	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttagcactggaatatcccaAccttgacatatcagaaacaa	16	10	5	10	0	1	2	1	1	0	1	2	3	2	3	2	1	3	1	2	1	7	5	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.3143A>C	p.Asn1048Thr	p.N1048T	ENST00000321505	7/20	166	153	13	248	248	0	strelka-varscan-mutect	KIAA1549L,missense_variant,p.Asn1048Thr,ENST00000321505,NM_012194.2;KIAA1549L,missense_variant,p.Asn1054Thr,ENST00000265654,;KIAA1549L,missense_variant,p.Asn446Thr,ENST00000526400,;	C	ENST00000321505	Transcript	missense_variant	3323/11678	3143/5550	1048/1849	N/T	aAc/aCc		1		1	KIAA1549L	HGNC	HGNC:24836	protein_coding	YES	CCDS44565.2	ENSP00000315295	Q6ZVL6		UPI0000E59322	NM_012194.2	deleterious(0)		7/20		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3,Pfam_domain:PF12877																	MODERATE	1	SNV	1			1										PASS		rs1161754151	.												C	3	2	87	33561691	33561691	A	C	1	0	0	0	0	1	0	0	0	8121	43	2	5		5	KIAA1549L	11	33561691	Missense_Mutation	SNP	A	C3N-02003_TP	3550242	33561691	101524931	186	28566											
CKAP5	0	.	GRCh38	chr11	46751221	46751221	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcctccagctcagactcgTttttgttgtcgatcatcgtt	5	15	10	11	3	2	1	2	0	0	1	6	2	3	1	2	1	1	4	2	1	0	4	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.5357A>C	p.Asn1786Thr	p.N1786T	ENST00000529230	40/44	379	353	26	310	310	0	strelka-varscan-mutect	CKAP5,missense_variant,p.Asn1786Thr,ENST00000529230,NM_001008938.3;CKAP5,missense_variant,p.Asn1726Thr,ENST00000312055,NM_014756.3;CKAP5,missense_variant,p.Asn1726Thr,ENST00000354558,;CKAP5,missense_variant,p.Asn25Thr,ENST00000525896,;CKAP5,downstream_gene_variant,,ENST00000526876,;CKAP5,downstream_gene_variant,,ENST00000527333,;MIR5582,downstream_gene_variant,,ENST00000579697,;CKAP5,non_coding_transcript_exon_variant,,ENST00000533413,;	G	ENST00000529230	Transcript	missense_variant	5404/7121	5357/6099	1786/2032	N/T	aAc/aCc		1		-1	CKAP5	HGNC	HGNC:28959	protein_coding	YES	CCDS31477.1	ENSP00000432768	Q14008		UPI000013F21E	NM_001008938.3	tolerated(0.18)		40/44		hmmpanther:PTHR12609:SF0,hmmpanther:PTHR12609,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	87	46751221	46751221	T	G	1	0	0	0	0	1	0	0	0	3208	1725	60	5		5	CKAP5	11	46751221	Missense_Mutation	SNP	T	C3N-02003_TP	13189530	46751221	88335401	187	28567											
MYBPC3	0	.	GRCh38	chr11	47346295	47346295	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtactggaaggcgatgcgCtcgtactcagatgggggtgc	7	8	16	10	4	1	1	1	0	0	1	2	3	1	2	1	4	4	3	1	4	3	2			C3N-02003_TP	C3N-02003_NB	C	C																c.1002G>A	p.=	p.E334E	ENST00000545968	12/35	133	112	21	80	80	0	strelka-varscan-mutect	MYBPC3,synonymous_variant,p.=,ENST00000545968,NM_000256.3;MYBPC3,synonymous_variant,p.=,ENST00000256993,;MYBPC3,synonymous_variant,p.=,ENST00000399249,;MYBPC3,synonymous_variant,p.=,ENST00000544791,;	T	ENST00000545968	Transcript	synonymous_variant	1057/4226	1002/3825	334/1274	E	gaG/gaA	COSM5448178,COSM5448179	1		-1	MYBPC3	HGNC	HGNC:7551	protein_coding	YES	CCDS53621.1	ENSP00000442795	Q14896		UPI000006EEAA	NM_000256.3			12/35													1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												T	2	4	87	47346295	47346295	C	T	1	0	0	0	0	0	0	0	1	10013	796	28	3		3	MYBPC3	11	47346295	Silent	SNP	C	C3N-02003_TP	595074	47346295	87740327	188	28568											
AHNAK	0	.	GRCh38	chr11	62521947	62521947	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacttcagggcccttgaggTcgccttccactttgggcaga	7	10	11	13	1	1	2	1	1	0	1	3	2	2	2	3	3	1	1	3	3	1	4	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.12470A>C	p.Asp4157Ala	p.D4157A	ENST00000378024	5/5	512	476	36	419	418	1	strelka-varscan-mutect	AHNAK,missense_variant,p.Asp4157Ala,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	G	ENST00000378024	Transcript	missense_variant	12745/18787	12470/17673	4157/5890	D/A	gAc/gCc		1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2	deleterious(0)		5/5		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	87	62521947	62521947	T	G	1	0	0	0	0	1	0	0	0	491	1667	58	5		5	AHNAK	11	62521947	Missense_Mutation	SNP	T	C3N-02003_TP	15175652	62521947	72564675	189	28569											
MAP3K11	0	.	GRCh38	chr11	65598482	65598482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggagaaggccgtggccCagctgacacaaagctccagg	11	3	15	12	1	0	2	0	1	0	1	1	3	1	2	3	5	2	2	3	5	2	0	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.2353G>A	p.Gly785Arg	p.G785R	ENST00000309100	10/10	127	114	13	107	107	0	strelka-varscan-mutect	MAP3K11,missense_variant,p.Gly785Arg,ENST00000309100,NM_002419.3;MAP3K11,missense_variant,p.Gly528Arg,ENST00000530153,;MAP3K11,missense_variant,p.Gly201Arg,ENST00000532507,;KCNK7,upstream_gene_variant,,ENST00000394216,NM_005714.1;KCNK7,upstream_gene_variant,,ENST00000394217,NM_033348.1,NM_033455.1;KCNK7,upstream_gene_variant,,ENST00000340313,NM_033347.1;KCNK7,upstream_gene_variant,,ENST00000342202,;KCNK7,upstream_gene_variant,,ENST00000525254,;KCNK7,upstream_gene_variant,,ENST00000530380,;MAP3K11,downstream_gene_variant,,ENST00000534432,;MAP3K11,3_prime_UTR_variant,,ENST00000524848,;	T	ENST00000309100	Transcript	missense_variant	2839/3566	2353/2544	785/847	G/R	Ggg/Agg		1		-1	MAP3K11	HGNC	HGNC:6850	protein_coding	YES	CCDS8107.1	ENSP00000309597	Q16584	A0A024R5E6	UPI0000049BF7	NM_002419.3	deleterious_low_confidence(0)		10/10		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	65598482	65598482	C	T	1	0	0	0	0	1	0	0	0	9167	594	21	3		3	MAP3K11	11	65598482	Missense_Mutation	SNP	C	C3N-02003_TP	3076535	65598482	69488140	190	28570											
KAT5	0	.	GRCh38	chr11	65716771	65716771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtcatgacagagtatgaCtgtaagggcttccacatcgt	11	11	10	9	2	1	3	1	2	0	1	3	3	2	3	1	1	1	3	1	1	3	4	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1134C>A	p.Asp378Glu	p.D378E	ENST00000341318	9/13	231	198	33	184	183	1	strelka-varscan-mutect	KAT5,missense_variant,p.Asp378Glu,ENST00000341318,NM_182710.2;KAT5,missense_variant,p.Asp345Glu,ENST00000377046,NM_006388.3;KAT5,missense_variant,p.Asp293Glu,ENST00000352980,NM_182709.2;KAT5,missense_variant,p.Asp134Glu,ENST00000534650,;KAT5,missense_variant,p.Asp326Glu,ENST00000530446,NM_001206833.1;RNASEH2C,downstream_gene_variant,,ENST00000308418,NM_032193.3;RNASEH2C,downstream_gene_variant,,ENST00000528220,;KAT5,downstream_gene_variant,,ENST00000531880,;RNASEH2C,downstream_gene_variant,,ENST00000527610,;KAT5,upstream_gene_variant,,ENST00000533596,;KAT5,downstream_gene_variant,,ENST00000528198,;KAT5,downstream_gene_variant,,ENST00000534681,;KAT5,downstream_gene_variant,,ENST00000534104,;KAT5,downstream_gene_variant,,ENST00000530605,;KAT5,downstream_gene_variant,,ENST00000525204,;KAT5,downstream_gene_variant,,ENST00000534293,;KAT5,non_coding_transcript_exon_variant,,ENST00000533441,;RNASEH2C,intron_variant,,ENST00000534482,;RNASEH2C,downstream_gene_variant,,ENST00000531596,;KAT5,downstream_gene_variant,,ENST00000532042,;KAT5,downstream_gene_variant,,ENST00000527544,;RNASEH2C,downstream_gene_variant,,ENST00000533698,;RNASEH2C,downstream_gene_variant,,ENST00000530192,;KAT5,upstream_gene_variant,,ENST00000525600,;	A	ENST00000341318	Transcript	missense_variant	1368/2296	1134/1641	378/546	D/E	gaC/gaA		1		1	KAT5	HGNC	HGNC:5275	protein_coding	YES	CCDS8110.1	ENSP00000340330	Q92993		UPI00001D3EFB	NM_182710.2	deleterious(0)		9/13		PROSITE_profiles:PS51726,hmmpanther:PTHR10615,Gene3D:3.40.630.30,Pfam_domain:PF01853,Superfamily_domains:SSF55729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	65716771	65716771	C	A	1	0	0	0	0	1	0	0	0	7897	564	20	2		2	KAT5	11	65716771	Missense_Mutation	SNP	C	C3N-02003_TP	118289	65716771	69369851	191	28571											
RBM4B	0	.	GRCh38	chr11	66668990	66668990	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgcgtagttgtatgcagaAgccgctgccgccgctgctac	6	10	12	13	4	1	1	0	0	1	1	1	1	1	1	3	0	6	7	3	0	4	4	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.714T>G	p.=	p.A238A	ENST00000525754	2/3	339	306	33	230	230	0	strelka-varscan-mutect	RBM4B,synonymous_variant,p.=,ENST00000525754,;RBM4B,synonymous_variant,p.=,ENST00000310046,NM_031492.3;RBM4B,3_prime_UTR_variant,,ENST00000524637,;RBM4B,intron_variant,,ENST00000531969,NM_001286135.1;RBM4,downstream_gene_variant,,ENST00000396053,NM_001198844.1;RP11-658F2.8,downstream_gene_variant,,ENST00000550837,;RP11-658F2.8,downstream_gene_variant,,ENST00000548810,;RBM4B,upstream_gene_variant,,ENST00000529195,;RBM4B,upstream_gene_variant,,ENST00000534198,;RBM4B,upstream_gene_variant,,ENST00000528106,;	C	ENST00000525754	Transcript	synonymous_variant	1383/2339	714/1080	238/359	A	gcT/gcG		1		-1	RBM4B	HGNC	HGNC:28842	protein_coding	YES	CCDS8149.1	ENSP00000433071	Q9BQ04		UPI0000070053				2/3		Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		rs1369084200	.												C	2	2	87	66668990	66668990	A	C	1	0	0	0	0	0	0	0	1	13309	59	3	5		5	RBM4B	11	66668990	Silent	SNP	A	C3N-02003_TP	952219	66668990	68417632	192	28572											
KDM2A	0	.	GRCh38	chr11	67181354	67181354	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatattcagcggggtggcttGagagatcctctgattttcaa	9	14	11	7	1	3	3	2	2	1	1	4	4	4	3	1	3	1	1	1	3	3	6	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.216G>C	p.Leu72Phe	p.L72F	ENST00000529006	4/21	113	99	14	115	115	0	strelka-mutect	KDM2A,missense_variant,p.Leu72Phe,ENST00000529006,NM_012308.2;KDM2A,missense_variant,p.Leu72Phe,ENST00000398645,;KDM2A,missense_variant,p.Leu55Phe,ENST00000308783,;KDM2A,downstream_gene_variant,,ENST00000527157,;	C	ENST00000529006	Transcript	missense_variant	662/6967	216/3489	72/1162	L/F	ttG/ttC		1		1	KDM2A	HGNC	HGNC:13606	protein_coding	YES	CCDS44657.1	ENSP00000432786	Q9Y2K7	I3VM53	UPI00001678A9	NM_012308.2	tolerated(0.16)		4/21		hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF3,Superfamily_domains:SSF51197																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	67181354	67181354	G	C	1	0	0	0	0	1	0	0	0	8042	1281	45	4		4	KDM2A	11	67181354	Missense_Mutation	SNP	G	C3N-02003_TP	512364	67181354	67905268	193	28573			1	24		3	3	521	G		1.51658e-05
KDM2A	0	.	GRCh38	chr11	67181375	67181375	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagatcctctgattttcaaGaattctgatggactcggaat	12	13	9	7	1	3	4	1	2	2	2	5	7	4	6	1	2	0	0	1	2	3	3	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.237G>A	p.=	p.K79K	ENST00000529006	4/21	100	86	14	106	106	0	strelka-mutect	KDM2A,synonymous_variant,p.=,ENST00000529006,NM_012308.2;KDM2A,synonymous_variant,p.=,ENST00000398645,;KDM2A,synonymous_variant,p.=,ENST00000308783,;KDM2A,downstream_gene_variant,,ENST00000527157,;	A	ENST00000529006	Transcript	synonymous_variant	683/6967	237/3489	79/1162	K	aaG/aaA		1		1	KDM2A	HGNC	HGNC:13606	protein_coding	YES	CCDS44657.1	ENSP00000432786	Q9Y2K7	I3VM53	UPI00001678A9	NM_012308.2			4/21		Gene3D:1vrbA01,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF3,Superfamily_domains:SSF51197																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	67181375	67181375	G	A	1	0	0	0	0	0	0	0	1	8042	933	33	3		3	KDM2A	11	67181375	Silent	SNP	G	C3N-02003_TP	21	67181375	67905247	194	28574			1	24		3	3	521	G		1.51658e-05
KDM2A	0	.	GRCh38	chr11	67181874	67181874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccagacttcactgtgaatGatgtcaaaatgtgtgtgggt	11	13	11	6	0	2	3	2	2	0	1	3	3	3	3	1	1	0	0	1	1	3	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.289G>A	p.Asp97Asn	p.D97N	ENST00000529006	5/21	298	199	99	265	265	0	strelka-varscan-mutect	KDM2A,missense_variant,p.Asp97Asn,ENST00000529006,NM_012308.2;KDM2A,missense_variant,p.Asp97Asn,ENST00000398645,;KDM2A,missense_variant,p.Asp80Asn,ENST00000308783,;KDM2A,downstream_gene_variant,,ENST00000527157,;	A	ENST00000529006	Transcript	missense_variant	735/6967	289/3489	97/1162	D/N	Gat/Aat		1		1	KDM2A	HGNC	HGNC:13606	protein_coding	YES	CCDS44657.1	ENSP00000432786	Q9Y2K7	I3VM53	UPI00001678A9	NM_012308.2	deleterious(0)		5/21		Gene3D:1vrbA01,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF3,Superfamily_domains:SSF51197																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	67181874	67181874	G	A	1	0	0	0	0	1	0	0	0	8042	1290	45	3		3	KDM2A	11	67181874	Missense_Mutation	SNP	G	C3N-02003_TP	499	67181874	67904748	195	28575			1	24		3	3	521	G		1.51658e-05
KDM2A	0	.	GRCh38	chr11	67231952	67231952	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaagatgctctcattgctGatgtaaaggtaagggtttga	12	13	12	4	0	1	4	1	3	1	1	2	4	1	4	0	2	2	5	0	2	4	4	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1471G>C	p.Asp491His	p.D491H	ENST00000529006	12/21	171	161	10	65	65	0	strelka-varscan-mutect	KDM2A,missense_variant,p.Asp491His,ENST00000529006,NM_012308.2;KDM2A,missense_variant,p.Asp491His,ENST00000398645,;KDM2A,missense_variant,p.Asp474His,ENST00000308783,;KDM2A,non_coding_transcript_exon_variant,,ENST00000526258,;KDM2A,non_coding_transcript_exon_variant,,ENST00000531696,;KDM2A,non_coding_transcript_exon_variant,,ENST00000525041,;	C	ENST00000529006	Transcript	missense_variant	1917/6967	1471/3489	491/1162	D/H	Gat/Cat		1		1	KDM2A	HGNC	HGNC:13606	protein_coding	YES	CCDS44657.1	ENSP00000432786	Q9Y2K7	I3VM53	UPI00001678A9	NM_012308.2	tolerated(0.21)		12/21		hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	67231952	67231952	G	C	1	0	0	0	0	1	0	0	0	8042	1290	45	4		4	KDM2A	11	67231952	Missense_Mutation	SNP	G	C3N-02003_TP	50078	67231952	67854670	196	28576											
UNC93B1	0	.	GRCh38	chr11	67991701	67991701	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcgtcgctctcgtccgAgttgtcctcctccaagtagc	4	11	9	17	5	1	0	0	0	1	0	8	1	6	0	5	0	1	3	5	0	2	2	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.1639T>G	p.Ser547Ala	p.S547A	ENST00000227471	11/11	409	255	154	256	255	1	strelka-varscan-mutect	UNC93B1,missense_variant,p.Ser547Ala,ENST00000227471,NM_030930.3;UNC93B1,intron_variant,,ENST00000610659,;UNC93B1,downstream_gene_variant,,ENST00000525368,;	C	ENST00000227471	Transcript	missense_variant	1719/2316	1639/1794	547/597	S/A	Tcg/Gcg		1		-1	UNC93B1	HGNC	HGNC:13481	protein_coding	YES	CCDS73334.1	ENSP00000227471	Q9H1C4		UPI000034ECF5	NM_030930.3	deleterious(0)		11/11		hmmpanther:PTHR19444,hmmpanther:PTHR19444:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	67991701	67991701	A	C	1	0	0	0	0	1	0	0	0	17523	304	11	5		5	UNC93B1	11	67991701	Missense_Mutation	SNP	A	C3N-02003_TP	759749	67991701	67094921	197	28577											
PPFIA1	0	.	GRCh38	chr11	70337382	70337382	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaactctcttttaagagaAgttgaaagtgcaaaaaagca	18	9	8	6	0	1	3	0	1	1	2	2	4	1	3	0	0	3	3	0	0	7	3	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.1446A>C	p.Glu482Asp	p.E482D	ENST00000253925	12/28	111	69	42	90	90	0	strelka-varscan-mutect	PPFIA1,missense_variant,p.Glu482Asp,ENST00000253925,NM_003626.3;PPFIA1,missense_variant,p.Glu482Asp,ENST00000389547,NM_177423.2;PPFIA1,missense_variant,p.Glu34Asp,ENST00000530798,;AP000487.6,intron_variant,,ENST00000528607,;PPFIA1,non_coding_transcript_exon_variant,,ENST00000532443,;PPFIA1,upstream_gene_variant,,ENST00000530294,;PPFIA1,upstream_gene_variant,,ENST00000526347,;PPFIA1,upstream_gene_variant,,ENST00000526074,;PPFIA1,upstream_gene_variant,,ENST00000528284,;PPFIA1,downstream_gene_variant,,ENST00000530932,;PPFIA1,missense_variant,p.Glu482Asp,ENST00000532504,;PPFIA1,missense_variant,p.Glu278Asp,ENST00000526262,;PPFIA1,upstream_gene_variant,,ENST00000526369,;	C	ENST00000253925	Transcript	missense_variant	1661/5234	1446/3609	482/1202	E/D	gaA/gaC		1		1	PPFIA1	HGNC	HGNC:9245	protein_coding	YES	CCDS31627.1	ENSP00000253925	Q13136		UPI0000072426	NM_003626.3	tolerated(0.17)		12/28		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	70337382	70337382	A	C	1	0	0	0	0	1	0	0	0	12418	69	3	5		5	PPFIA1	11	70337382	Missense_Mutation	SNP	A	C3N-02003_TP	2345681	70337382	64749240	198	28578											
OR2AT4	0	.	GRCh38	chr11	75089449	75089449	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcggtccccaagcaagaataAggacagcatcttggggacag	13	5	13	10	1	1	1	0	0	1	1	2	3	2	3	2	4	2	2	2	4	4	2	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.265T>G	p.Leu89Val	p.L89V	ENST00000305159	1/1	496	469	27	261	261	0	strelka-varscan-mutect	OR2AT4,missense_variant,p.Leu89Val,ENST00000305159,NM_001005285.1;	C	ENST00000305159	Transcript	missense_variant	306/1042	265/963	89/320	L/V	Tta/Gta		1		-1	OR2AT4	HGNC	HGNC:19620	protein_coding	YES	CCDS31639.1	ENSP00000304846	A6NND4	A0A126GWB1	UPI0000061FA5	NM_001005285.1	tolerated(0.22)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF15,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	87	75089449	75089449	A	C	1	0	0	0	0	1	0	0	0	11066	69	3	5		5	OR2AT4	11	75089449	Missense_Mutation	SNP	A	C3N-02003_TP	4752067	75089449	59997173	199	28579											
RPS3	0	.	GRCh38	chr11	75399557	75399557	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcggcaagatggcagtgCaaatatccaagaagaggaag	15	4	15	7	2	0	3	0	0	0	3	1	4	1	4	1	4	1	3	1	4	6	1	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.10C>T	p.Gln4Ter	p.Q4*	ENST00000278572	1/7	263	166	97	150	150	0	strelka-varscan-mutect	RPS3,stop_gained,p.Gln4Ter,ENST00000531188,NM_001005.4;RPS3,stop_gained,p.Gln4Ter,ENST00000530164,;RPS3,stop_gained,p.Gln4Ter,ENST00000527446,NM_001256802.1;RPS3,stop_gained,p.Gln4Ter,ENST00000278572,NM_001260506.1;RPS3,stop_gained,p.Gln4Ter,ENST00000524851,;RPS3,stop_gained,p.Gln4Ter,ENST00000526608,;RPS3,stop_gained,p.Gln4Ter,ENST00000534440,;RPS3,stop_gained,p.Gln4Ter,ENST00000527273,;RPS3,5_prime_UTR_variant,,ENST00000422465,NM_001260507.1;RPS3,upstream_gene_variant,,ENST00000525933,;RPS3,upstream_gene_variant,,ENST00000528847,;SNORD15A,upstream_gene_variant,,ENST00000384214,;SNORD15B,upstream_gene_variant,,ENST00000384714,;RPS3,upstream_gene_variant,,ENST00000529285,;RPS3,upstream_gene_variant,,ENST00000534555,;RPS3,stop_gained,p.Gln4Ter,ENST00000530721,;RPS3,stop_gained,p.Gln1Ter,ENST00000526248,;RPS3,stop_gained,p.Gln4Ter,ENST00000532872,;RPS3,stop_gained,p.Gln4Ter,ENST00000528439,;RPS3,non_coding_transcript_exon_variant,,ENST00000529173,;RPS3,upstream_gene_variant,,ENST00000530170,;RPS3,upstream_gene_variant,,ENST00000525690,;	T	ENST00000278572	Transcript	stop_gained	28/907	10/780	4/259	Q/*	Caa/Taa		1		1	RPS3	HGNC	HGNC:10420	protein_coding	YES	CCDS58161.1	ENSP00000278572	P23396		UPI0001EE4B77	NM_001260506.1			1/7		hmmpanther:PTHR11760,hmmpanther:PTHR11760:SF20																	HIGH	1	SNV	3			1										PASS		.	.												T	4	4	87	75399557	75399557	C	T	1	0	0	0	0	0	1	0	0	13898	711	25	3		3	RPS3	11	75399557	Nonsense_Mutation	SNP	C	C3N-02003_TP	310108	75399557	59687065	200	28580											
PCF11	0	.	GRCh38	chr11	83181165	83181165	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgttagccgaaaagtcactCatagacgttggtactacagt	13	11	9	8	2	2	1	2	0	0	1	2	2	2	1	1	1	3	3	1	1	6	5	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.4141C>G	p.His1381Asp	p.H1381D	ENST00000298281	12/16	118	108	10	92	92	0	strelka-varscan-mutect	PCF11,missense_variant,p.His1381Asp,ENST00000298281,NM_015885.3;PCF11,missense_variant,p.His166Asp,ENST00000530906,;PCF11-AS1,downstream_gene_variant,,ENST00000602322,;RP11-727A23.5,downstream_gene_variant,,ENST00000602381,;RP11-727A23.4,intron_variant,,ENST00000528133,;PCF11,non_coding_transcript_exon_variant,,ENST00000528336,;	G	ENST00000298281	Transcript	missense_variant	4593/7677	4141/4668	1381/1555	H/D	Cat/Gat		1		1	PCF11	HGNC	HGNC:30097	protein_coding	YES	CCDS44689.1	ENSP00000298281	O94913		UPI00001BB2B7	NM_015885.3	deleterious(0)		12/16		hmmpanther:PTHR15921,hmmpanther:PTHR15921:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	83181165	83181165	C	G	1	0	0	0	0	1	0	0	0	11661	826	29	4		4	PCF11	11	83181165	Missense_Mutation	SNP	C	C3N-02003_TP	7781608	83181165	51905457	201	28581											
PCSK7	0	.	GRCh38	chr11	117225966	117225966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattgatctgatagtgcttGttgaacgccactgcctccat	8	14	8	11	1	2	3	1	3	1	0	3	3	3	3	3	0	3	2	3	0	2	4	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.825C>A	p.Asn275Lys	p.N275K	ENST00000320934	6/17	487	305	182	299	299	0	strelka-varscan-mutect	PCSK7,missense_variant,p.Asn275Lys,ENST00000320934,NM_004716.3;PCSK7,missense_variant,p.Asn275Lys,ENST00000540028,;PCSK7,missense_variant,p.Asn275Lys,ENST00000525027,;PCSK7,downstream_gene_variant,,ENST00000530269,;PCSK7,downstream_gene_variant,,ENST00000524507,;PCSK7,downstream_gene_variant,,ENST00000532301,;PCSK7,non_coding_transcript_exon_variant,,ENST00000534529,;PCSK7,upstream_gene_variant,,ENST00000528217,;	T	ENST00000320934	Transcript	missense_variant	1456/4649	825/2358	275/785	N/K	aaC/aaA		1		-1	PCSK7	HGNC	HGNC:8748	protein_coding	YES	CCDS8382.1	ENSP00000325917	Q16549		UPI0000070E4E	NM_004716.3	deleterious(0.01)		6/17		hmmpanther:PTHR10795:SF9,hmmpanther:PTHR10795,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	117225966	117225966	G	T	1	0	0	0	0	1	0	0	0	11693	1368	48	2		2	PCSK7	11	117225966	Missense_Mutation	SNP	G	C3N-02003_TP	34044801	117225966	17860656	202	28582											
CD3D	0	.	GRCh38	chr11	118339488	118339488	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaacagagcttgtgtgTcggcagctagaagaaccaga	12	8	11	10	1	1	4	1	0	0	4	3	4	2	4	2	1	4	3	2	1	4	2	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.413A>C	p.Asp138Ala	p.D138A	ENST00000300692	4/5	904	805	99	533	532	1	strelka-varscan-mutect	CD3D,missense_variant,p.Asp138Ala,ENST00000300692,NM_000732.4;CD3D,missense_variant,p.Asp99Ala,ENST00000534687,;CD3D,missense_variant,p.Asp94Ala,ENST00000392884,NM_001040651.1;CD3D,missense_variant,p.Asp65Ala,ENST00000529594,;CD3G,upstream_gene_variant,,ENST00000532917,NM_000073.2;CD3G,upstream_gene_variant,,ENST00000392883,;CD3G,upstream_gene_variant,,ENST00000532903,;CD3G,upstream_gene_variant,,ENST00000528540,;CD3D,non_coding_transcript_exon_variant,,ENST00000526561,;CD3G,upstream_gene_variant,,ENST00000292144,;CD3G,upstream_gene_variant,,ENST00000533462,;CD3G,upstream_gene_variant,,ENST00000527777,;	G	ENST00000300692	Transcript	missense_variant	550/861	413/516	138/171	D/A	gAc/gCc		1		-1	CD3D	HGNC	HGNC:1673	protein_coding	YES	CCDS8394.1	ENSP00000300692	P04234	B0YIY4	UPI0000127356	NM_000732.4	deleterious(0)		4/5		PROSITE_profiles:PS51055,hmmpanther:PTHR10570,hmmpanther:PTHR10570:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	118339488	118339488	T	G	1	0	0	0	0	1	0	0	0	2714	1667	58	5		5	CD3D	11	118339488	Missense_Mutation	SNP	T	C3N-02003_TP	1113522	118339488	16747134	203	28583											
UBE4A	0	.	GRCh38	chr11	118389882	118389882	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagcttgtatcagatatCtgcactatctacttaaatct	12	14	5	10	0	4	1	1	0	3	1	4	1	4	1	0	0	4	4	0	0	6	6	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.2766C>T	p.=	p.I922I	ENST00000431736	17/20	100	95	5	72	72	0	strelka-mutect	UBE4A,synonymous_variant,p.=,ENST00000252108,NM_001204077.1;UBE4A,synonymous_variant,p.=,ENST00000431736,NM_004788.3;UBE4A,synonymous_variant,p.=,ENST00000545354,;	T	ENST00000431736	Transcript	synonymous_variant	2838/6061	2766/3222	922/1073	I	atC/atT		1		1	UBE4A	HGNC	HGNC:12499	protein_coding	YES	CCDS8396.1	ENSP00000387362	Q14139		UPI000013CD3F	NM_004788.3			17/20		hmmpanther:PTHR13931:SF2,hmmpanther:PTHR13931,Pfam_domain:PF10408																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	87	118389882	118389882	C	T	1	0	0	0	0	0	0	0	1	17406	903	32	3		3	UBE4A	11	118389882	Silent	SNP	C	C3N-02003_TP	50394	118389882	16696740	204	28584											
CHD4	0	.	GRCh38	chr12	6583207	6583207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccacacacacctcggtcctCctgggagccatcattgtagt	8	9	9	15	1	1	0	1	0	0	0	4	1	3	1	5	2	1	1	5	2	1	2	rs754606238		C3N-02003_TP	C3N-02003_NB	C	C																c.4051G>A	p.Glu1351Lys	p.E1351K	ENST00000357008	26/40	147	139	8	140	140	0	strelka-varscan-mutect	CHD4,missense_variant,p.Glu1348Lys,ENST00000544484,;CHD4,missense_variant,p.Glu1344Lys,ENST00000544040,NM_001297553.1;CHD4,missense_variant,p.Glu1351Lys,ENST00000357008,NM_001273.3;SCARNA11,upstream_gene_variant,,ENST00000516089,;RP5-940J5.6,non_coding_transcript_exon_variant,,ENST00000501075,;CHD4,non_coding_transcript_exon_variant,,ENST00000540960,;CHD4,intron_variant,,ENST00000536301,;CHD4,upstream_gene_variant,,ENST00000542717,;	T	ENST00000357008	Transcript	missense_variant	4215/6496	4051/5739	1351/1912	E/K	Gag/Aag	rs754606238	1		-1	CHD4	HGNC	HGNC:1919	protein_coding	YES	CCDS8552.1	ENSP00000349508	Q14839		UPI000013C8EF	NM_001273.3	deleterious(0.01)		26/40		Low_complexity_(Seg):seg,Pfam_domain:PF06465,SMART_domains:SM01147																	MODERATE	1	SNV	1			1										PASS		rs754606238	.												T	3	4	87	6583207	6583207	C	T	1	0	0	0	0	1	0	0	0	3086	864	30	3		3	CHD4	12	6583207	Missense_Mutation	SNP	C	C3N-02003_TP		6583207	126692102	205	28585											
OLR1	0	.	GRCh38	chr12	10166905	10166905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtccctccagtttctttttCtggtgagttaggtttgcttg	3	20	10	8	0	2	1	0	1	2	0	4	1	4	1	2	2	1	4	2	2	1	6	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.231G>C	p.Gln77His	p.Q77H	ENST00000309539	3/6	231	217	14	273	273	0	strelka-varscan-mutect	OLR1,missense_variant,p.Gln77His,ENST00000309539,NM_002543.3;OLR1,missense_variant,p.Gln77His,ENST00000545927,NM_001172633.1;OLR1,missense_variant,p.Gln77His,ENST00000432556,NM_001172632.1;OLR1,missense_variant,p.Gln77His,ENST00000544577,;OLR1,missense_variant,p.Gln24His,ENST00000539518,;OLR1,missense_variant,p.Gln24His,ENST00000543414,;OLR1,5_prime_UTR_variant,,ENST00000543993,;OLR1,5_prime_UTR_variant,,ENST00000339968,;OLR1,5_prime_UTR_variant,,ENST00000538745,;OLR1,5_prime_UTR_variant,,ENST00000538873,;TMEM52B,upstream_gene_variant,,ENST00000381923,NM_001079815.1;TMEM52B,upstream_gene_variant,,ENST00000545924,;TMEM52B,upstream_gene_variant,,ENST00000334148,;	G	ENST00000309539	Transcript	missense_variant	292/2462	231/822	77/273	Q/H	caG/caC		1		-1	OLR1	HGNC	HGNC:8133	protein_coding	YES	CCDS8618.1	ENSP00000309124	P78380	A0A024RAU0	UPI000004A917	NM_002543.3	deleterious(0.02)		3/6		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF08391,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF146																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	10166905	10166905	C	G	1	0	0	0	0	1	0	0	0	10938	912	32	4		4	OLR1	12	10166905	Missense_Mutation	SNP	C	C3N-02003_TP	3583698	10166905	123108404	206	28586											
ABCC9	0	.	GRCh38	chr12	21908181	21908181	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgcacttgatccaagtaAattatagagcagaatcacgc	16	9	7	9	1	1	3	1	1	0	2	2	3	2	3	1	0	2	3	1	0	7	4			C3N-02003_TP	C3N-02003_NB	A	A																c.1351T>G	p.Leu451Val	p.L451V	ENST00000261200	9/38	249	197	52	290	290	0	strelka-varscan-mutect	ABCC9,missense_variant,p.Leu451Val,ENST00000261200,NM_020297.3;ABCC9,missense_variant,p.Leu451Val,ENST00000261201,NM_005691.3;ABCC9,missense_variant,p.Leu114Val,ENST00000544039,;	C	ENST00000261200	Transcript	missense_variant	1351/8293	1351/4650	451/1549	L/V	Tta/Gta	COSM1243993,COSM1243994	1		-1	ABCC9	HGNC	HGNC:60	protein_coding	YES	CCDS8693.1	ENSP00000261200	O60706		UPI000013D13F	NM_020297.3	tolerated(0.18)		9/38		PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												C	3	2	87	21908181	21908181	A	C	1	0	0	0	0	1	0	0	0	63	11	1	5		5	ABCC9	12	21908181	Missense_Mutation	SNP	A	C3N-02003_TP	11741276	21908181	111367128	207	28587											
KIF21A	0	.	GRCh38	chr12	39341581	39341581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcctcCtcttcttcatcctcatgatc	3	17	1	20	0	5	1	2	1	3	0	13	1	12	1	7	0	0	0	7	0	0	3	rs749121235		C3N-02003_TP	C3N-02003_NB	C	C																c.1845G>A	p.=	p.E615E	ENST00000361418	14/38	107	101	6	205	204	1	strelka-varscan-mutect	KIF21A,synonymous_variant,p.=,ENST00000361961,NM_017641.3;KIF21A,synonymous_variant,p.=,ENST00000636569,;KIF21A,synonymous_variant,p.=,ENST00000361418,NM_001173464.1;KIF21A,synonymous_variant,p.=,ENST00000544797,NM_001173463.1;KIF21A,synonymous_variant,p.=,ENST00000541463,NM_001173465.1;KIF21A,upstream_gene_variant,,ENST00000552961,;KIF21A,upstream_gene_variant,,ENST00000547108,;KIF21A,upstream_gene_variant,,ENST00000546817,;	T	ENST00000361418	Transcript	synonymous_variant	1861/5044	1845/5025	615/1674	E	gaG/gaA	rs749121235,COSM468307,COSM4859649,COSM693271	1		-1	KIF21A	HGNC	HGNC:19349	protein_coding	YES	CCDS53776.1	ENSP00000354878	Q7Z4S6		UPI0000212ED9	NM_001173464.1			14/38		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg											0,1,1,1						LOW	1	SNV	1		0,1,1,1	1										PASS		rs749121235	.												T	2	4	87	39341581	39341581	C	T	1	0	0	0	0	0	0	0	1	8153	680	24	3		3	KIF21A	12	39341581	Silent	SNP	C	C3N-02003_TP	17433400	39341581	93933728	208	28588											
SLC38A2	0	.	GRCh38	chr12	46363081	46363081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacacagccagacggacaatGagaagaagaatatcagttcc	18	5	9	9	1	1	4	1	1	0	4	2	6	2	5	2	1	2	1	2	1	6	2	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1119C>T	p.=	p.L373L	ENST00000256689	13/16	134	127	7	238	238	0	strelka-varscan-mutect	SLC38A2,synonymous_variant,p.=,ENST00000256689,NM_018976.4;SLC38A2,synonymous_variant,p.=,ENST00000551374,;SLC38A2,synonymous_variant,p.=,ENST00000612232,NM_001307936.1;SLC38A2,intron_variant,,ENST00000548111,;SLC38A2,downstream_gene_variant,,ENST00000547252,;SLC38A2,downstream_gene_variant,,ENST00000548870,;SLC38A2,3_prime_UTR_variant,,ENST00000549258,;SLC38A2,non_coding_transcript_exon_variant,,ENST00000548236,;SLC38A2,upstream_gene_variant,,ENST00000546520,;SLC38A2,upstream_gene_variant,,ENST00000548785,;SLC38A2,downstream_gene_variant,,ENST00000552414,;SLC38A2,upstream_gene_variant,,ENST00000552703,;	A	ENST00000256689	Transcript	synonymous_variant	1564/4888	1119/1521	373/506	L	ctC/ctT		1		-1	SLC38A2	HGNC	HGNC:13448	protein_coding	YES	CCDS8749.1	ENSP00000256689	Q96QD8	A0A024R0W3	UPI000000121A	NM_018976.4			13/16		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF207,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs758997542	.												A	2	1	87	46363081	46363081	G	A	1	0	0	0	0	0	0	0	1	14882	1277	45	3		3	SLC38A2	12	46363081	Silent	SNP	G	C3N-02003_TP	7021500	46363081	86912228	209	28589											
FAM186A	0	.	GRCh38	chr12	50353011	50353011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtgagagtgatccccaggGcctgggcctgctgaggagta	7	7	18	9	0	0	3	0	3	0	1	1	5	1	4	4	4	1	2	4	4	1	1	rs754227593		C3N-02003_TP	C3N-02003_NB	G	G																c.3821C>T	p.Ala1274Val	p.A1274V	ENST00000327337	4/8	202	188	14	226	226	0	varscan-mutect	FAM186A,missense_variant,p.Ala1274Val,ENST00000543111,;FAM186A,missense_variant,p.Ala1274Val,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,;	A	ENST00000327337	Transcript	missense_variant	3821/7127	3821/7056	1274/2351	A/V	gCc/gTc	rs754227593	1		-1	FAM186A	HGNC	HGNC:26980	protein_coding	YES	CCDS44878.1	ENSP00000329995	A6NE01		UPI00001D7978	NM_001145475.1	deleterious(0.05)		4/8		hmmpanther:PTHR33590,hmmpanther:PTHR33590:SF2																	MODERATE	1	SNV	5			1										PASS		rs754227593	.												A	3	1	87	50353011	50353011	G	A	1	0	0	0	0	1	0	0	0	5361	1203	42	3		3	FAM186A	12	50353011	Missense_Mutation	SNP	G	C3N-02003_TP	3989930	50353011	82922298	210	28590											
OR6C76	0	.	GRCh38	chr12	55426832	55426832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagacacaagtactctagaGctcatgagctttattttagc	13	12	7	9	0	2	3	1	1	1	2	2	3	2	3	0	0	4	3	0	0	5	6	rs545625846		C3N-02003_TP	C3N-02003_NB	G	G																c.579G>T	p.Glu193Asp	p.E193D	ENST00000328314	1/1	105	76	29	90	90	0	strelka-varscan-mutect	OR6C76,missense_variant,p.Glu193Asp,ENST00000328314,NM_001005183.1;	T	ENST00000328314	Transcript	missense_variant	579/939	579/939	193/312	E/D	gaG/gaT	rs545625846	1		1	OR6C76	HGNC	HGNC:31305	protein_coding	YES	CCDS31823.1	ENSP00000328402	A6NM76	A0A126GW16	UPI000023786F	NM_001005183.1	deleterious_low_confidence(0.01)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26454,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs545625846	.												T	3	4	87	55426832	55426832	G	T	1	0	0	0	0	1	0	0	0	11268	962	34	2		2	OR6C76	12	55426832	Missense_Mutation	SNP	G	C3N-02003_TP	5073821	55426832	77848477	211	28591											
MYO1A	0	.	GRCh38	chr12	57038949	57038949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgctaggaaagtggagtCactgaccaccccaggccgca	10	7	11	13	1	1	1	1	1	0	0	1	3	1	3	4	3	1	2	4	3	2	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1393G>A	p.Asp465Asn	p.D465N	ENST00000442789	17/29	605	566	39	448	448	0	strelka-varscan-mutect	MYO1A,missense_variant,p.Asp465Asn,ENST00000442789,NM_001256041.1;MYO1A,missense_variant,p.Asp465Asn,ENST00000300119,NM_005379.3;MYO1A,downstream_gene_variant,,ENST00000492945,;MYO1A,non_coding_transcript_exon_variant,,ENST00000476795,;MYO1A,missense_variant,p.Asp303Asn,ENST00000554234,;	T	ENST00000442789	Transcript	missense_variant	1681/3658	1393/3132	465/1043	D/N	Gac/Aac		1		-1	MYO1A	HGNC	HGNC:7595	protein_coding	YES	CCDS8929.1	ENSP00000393392	Q9UBC5		UPI000012FAC2	NM_001256041.1	deleterious(0)		17/29		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF291,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	57038949	57038949	C	T	1	0	0	0	0	1	0	0	0	10069	826	29	3		3	MYO1A	12	57038949	Missense_Mutation	SNP	C	C3N-02003_TP	1612117	57038949	76236360	212	28592											
BEST3	0	.	GRCh38	chr12	69654993	69654993	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccattaaatacagcatatCagaagagactcgagagccag	16	8	8	9	1	1	3	1	0	0	3	3	5	2	3	2	0	3	1	2	0	5	4	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1921G>C	p.Asp641His	p.D641H	ENST00000330891	10/10	164	149	15	158	158	0	strelka-varscan-mutect	BEST3,missense_variant,p.Asp641His,ENST00000330891,NM_032735.2;BEST3,missense_variant,p.Asp535His,ENST00000553096,NM_001282613.1;BEST3,missense_variant,p.Asp428His,ENST00000488961,NM_152439.3;BEST3,intron_variant,,ENST00000331471,NM_001282614.1;BEST3,intron_variant,,ENST00000547208,;	G	ENST00000330891	Transcript	missense_variant	2148/3532	1921/2007	641/668	D/H	Gat/Cat		1		-1	BEST3	HGNC	HGNC:17105	protein_coding	YES	CCDS8992.2	ENSP00000332413	Q8N1M1		UPI000006E397	NM_032735.2	deleterious_low_confidence(0)		10/10																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	87	69654993	69654993	C	G	1	0	0	0	0	1	0	0	0	1554	826	29	4		4	BEST3	12	69654993	Missense_Mutation	SNP	C	C3N-02003_TP	12616044	69654993	63620316	213	28593											
NAV3	0	.	GRCh38	chr12	78006826	78006826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaaggttttaacagtggtCtgaatagtggtggctcaaca	11	12	13	5	0	2	1	1	1	1	0	2	2	2	2	0	5	2	2	0	5	5	3	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1288C>G	p.Leu430Val	p.L430V	ENST00000397909	8/40	279	211	68	288	287	1	strelka-varscan-mutect	NAV3,missense_variant,p.Leu430Val,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Leu430Val,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Leu430Val,ENST00000549464,;NAV3,missense_variant,p.Leu373Val,ENST00000550042,;NAV3,downstream_gene_variant,,ENST00000550503,;NAV3,downstream_gene_variant,,ENST00000547725,;NAV3,upstream_gene_variant,,ENST00000550673,;	G	ENST00000397909	Transcript	missense_variant	1461/9821	1288/7158	430/2385	L/V	Ctg/Gtg		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	tolerated(0.67)		8/40		Low_complexity_(Seg):seg,hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	78006826	78006826	C	G	1	0	0	0	0	1	0	0	0	10194	912	32	4		4	NAV3	12	78006826	Missense_Mutation	SNP	C	C3N-02003_TP	8351833	78006826	55268483	214	28594											
GLT8D2	0	.	GRCh38	chr12	103999473	103999473	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgggttgaattccacgattTtaaagtttatttctctcagt	9	18	7	7	2	2	1	1	1	1	0	5	2	3	1	1	1	0	2	1	1	4	7	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.326A>G	p.Lys109Arg	p.K109R	ENST00000360814	6/11	168	158	10	210	210	0	strelka-varscan-mutect	GLT8D2,missense_variant,p.Lys109Arg,ENST00000360814,NM_031302.3;GLT8D2,missense_variant,p.Lys109Arg,ENST00000548660,;GLT8D2,missense_variant,p.Lys109Arg,ENST00000546436,;GLT8D2,missense_variant,p.Lys48Arg,ENST00000546851,;GLT8D2,non_coding_transcript_exon_variant,,ENST00000550816,;GLT8D2,upstream_gene_variant,,ENST00000552572,;	C	ENST00000360814	Transcript	missense_variant	732/1880	326/1050	109/349	K/R	aAa/aGa		1		-1	GLT8D2	HGNC	HGNC:24890	protein_coding	YES	CCDS9096.1	ENSP00000354053	Q9H1C3		UPI000004B633	NM_031302.3	tolerated(0.13)		6/11		Gene3D:3.90.550.10,Pfam_domain:PF01501,hmmpanther:PTHR13778,hmmpanther:PTHR13778:SF2,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	103999473	103999473	T	C	1	0	0	0	0	1	0	0	0	6347	1841	64	5		5	GLT8D2	12	103999473	Missense_Mutation	SNP	T	C3N-02003_TP	25992647	103999473	29275836	215	28595											
UBE3B	0	.	GRCh38	chr12	109521164	109521164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggacggctacgagcagcTtaggcagctctcccagcacg	9	5	13	14	3	1	0	0	0	1	0	2	2	1	1	1	3	5	7	1	3	2	2	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.2093T>C	p.Leu698Pro	p.L698P	ENST00000342494	20/28	110	103	7	120	120	0	strelka-varscan-mutect	UBE3B,missense_variant,p.Leu698Pro,ENST00000342494,NM_130466.3;UBE3B,missense_variant,p.Leu698Pro,ENST00000434735,NM_183415.2;UBE3B,missense_variant,p.Leu698Pro,ENST00000539599,;UBE3B,3_prime_UTR_variant,,ENST00000449510,;UBE3B,non_coding_transcript_exon_variant,,ENST00000538070,;UBE3B,non_coding_transcript_exon_variant,,ENST00000539584,;	C	ENST00000342494	Transcript	missense_variant	2688/5722	2093/3207	698/1068	L/P	cTt/cCt		1		1	UBE3B	HGNC	HGNC:13478	protein_coding	YES	CCDS9129.1	ENSP00000340596	Q7Z3V4	A0A024RBI2	UPI000013DC3B	NM_130466.3	deleterious(0)		20/28		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF352,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	109521164	109521164	T	C	1	0	0	0	0	1	0	0	0	17403	1609	56	5		5	UBE3B	12	109521164	Missense_Mutation	SNP	T	C3N-02003_TP	5521691	109521164	23754145	216	28596											
TBX5	0	.	GRCh38	chr12	114355901	114355901	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggccacgtgttgcagctGatgtcctctaggctgggcac	5	11	13	12	1	1	1	0	1	1	0	2	1	2	1	2	3	2	5	2	3	1	3			C3N-02003_TP	C3N-02003_NB	G	G																c.1188C>T	p.=	p.I396I	ENST00000310346	9/9	523	479	44	519	519	0	strelka-varscan-mutect	TBX5,synonymous_variant,p.=,ENST00000310346,NM_000192.3;TBX5,synonymous_variant,p.=,ENST00000349716,NM_080717.2;TBX5,synonymous_variant,p.=,ENST00000405440,NM_181486.2;	A	ENST00000310346	Transcript	synonymous_variant	1855/3825	1188/1557	396/518	I	atC/atT	COSM3792220	1		-1	TBX5	HGNC	HGNC:11604	protein_coding	YES	CCDS9173.1	ENSP00000309913	Q99593		UPI0000136AA2	NM_000192.3			9/9		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	87	114355901	114355901	G	A	1	0	0	0	0	0	0	0	1	16065	1280	45	3		3	TBX5	12	114355901	Silent	SNP	G	C3N-02003_TP	4834737	114355901	18919408	217	28597											
ACADS	0	.	GRCh38	chr12	120737381	120737381	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacctggggcccatcttgaAgtttggctccaaggagcaga	9	9	12	11	0	1	2	0	1	1	1	2	3	2	3	3	4	2	3	3	4	3	3	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.386A>C	p.Lys129Thr	p.K129T	ENST00000242592	4/10	533	492	41	450	450	0	strelka-varscan-mutect	ACADS,missense_variant,p.Lys129Thr,ENST00000242592,NM_000017.3;ACADS,missense_variant,p.Lys129Thr,ENST00000411593,NM_001302554.1;RP11-173P15.7,downstream_gene_variant,,ENST00000542620,;ACADS,non_coding_transcript_exon_variant,,ENST00000539690,;	C	ENST00000242592	Transcript	missense_variant	537/1950	386/1239	129/412	K/T	aAg/aCg		1		1	ACADS	HGNC	HGNC:90	protein_coding	YES	CCDS9207.1	ENSP00000242592	P16219	E5KSD5	UPI000004A863	NM_000017.3	tolerated(0.18)		4/10		hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF303,Pfam_domain:PF02771,Gene3D:1.10.540.10,Superfamily_domains:SSF56645																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	120737381	120737381	A	C	1	0	0	0	0	1	0	0	0	157	72	3	5		5	ACADS	12	120737381	Missense_Mutation	SNP	A	C3N-02003_TP	6381480	120737381	12537928	218	28598											
CCDC62	0	.	GRCh38	chr12	122788865	122788865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcggagacttgtattgtGaaagaaaagcaagattataa	17	10	11	3	1	0	4	0	1	0	3	0	5	0	4	0	2	1	2	0	2	7	5	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.606G>A	p.=	p.V202V	ENST00000253079	5/13	104	98	6	153	152	1	strelka-varscan-mutect	CCDC62,synonymous_variant,p.=,ENST00000253079,NM_201435.4;CCDC62,synonymous_variant,p.=,ENST00000392441,;CCDC62,synonymous_variant,p.=,ENST00000392440,;CCDC62,intron_variant,,ENST00000537566,;CCDC62,downstream_gene_variant,,ENST00000539171,;CCDC62,synonymous_variant,p.=,ENST00000341952,;	A	ENST00000253079	Transcript	synonymous_variant	950/3546	606/2055	202/684	V	gtG/gtA		1		1	CCDC62	HGNC	HGNC:30723	protein_coding	YES	CCDS9238.1	ENSP00000253079	Q6P9F0		UPI0000366924	NM_201435.4			5/13																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	122788865	122788865	G	A	1	0	0	0	0	0	0	0	1	2535	1277	45	3		3	CCDC62	12	122788865	Silent	SNP	G	C3N-02003_TP	2051484	122788865	10486444	219	28599											
FRY	0	.	GRCh38	chr13	32124665	32124665	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaacttggctttcaagcacTttaaatacaaagaagggtaa	16	12	7	6	0	1	1	1	0	0	1	1	1	1	1	0	2	3	3	0	2	8	7	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.619T>G	p.Phe207Val	p.F207V	ENST00000542859	6/61	267	250	17	415	415	0	strelka-varscan-mutect	FRY,missense_variant,p.Phe207Val,ENST00000542859,NM_023037.2;FRY,missense_variant,p.Phe207Val,ENST00000380250,;	G	ENST00000542859	Transcript	missense_variant	1115/13200	619/9042	207/3013	F/V	Ttt/Gtt		1		1	FRY	HGNC	HGNC:20367	protein_coding	YES	CCDS41875.1	ENSP00000445043	Q5TBA9		UPI000046FD40	NM_023037.2	deleterious(0)		6/61		Pfam_domain:PF14222,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	87	32124665	32124665	T	G	1	0	0	0	0	1	0	0	0	5935	1609	56	5		5	FRY	13	32124665	Missense_Mutation	SNP	T	C3N-02003_TP		32124665	82239663	220	28600											
MTRF1	0	.	GRCh38	chr13	41240376	41240376	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgaatcccaccctcatacTtcaaatgcttatagacaccg	12	10	6	13	1	2	2	2	1	0	1	3	2	3	2	3	1	2	1	3	1	5	4	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.755A>C	p.Lys252Thr	p.K252T	ENST00000379480	6/10	214	202	12	212	211	1	strelka-varscan-mutect	MTRF1,missense_variant,p.Lys252Thr,ENST00000379480,NM_004294.2;MTRF1,missense_variant,p.Lys252Thr,ENST00000379477,;RP11-74J13.8,downstream_gene_variant,,ENST00000619407,;	G	ENST00000379480	Transcript	missense_variant	856/2185	755/1338	252/445	K/T	aAg/aCg		1		-1	MTRF1	HGNC	HGNC:7469	protein_coding	YES	CCDS9378.1	ENSP00000368793	O75570	A0A024RDT1	UPI0000035FC6	NM_004294.2	deleterious(0)		6/10		Pfam_domain:PF03462,hmmpanther:PTHR11075,hmmpanther:PTHR11075:SF44,SMART_domains:SM00937,Superfamily_domains:SSF75620																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	41240376	41240376	T	G	1	0	0	0	0	1	0	0	0	9945	1609	56	5		5	MTRF1	13	41240376	Missense_Mutation	SNP	T	C3N-02003_TP	9115711	41240376	73123952	221	28601											
HTR2A	0	.	GRCh38	chr13	46892582	46892582	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttgctcggcagaggccAccggtaccctatgaggcaga	10	6	13	12	2	0	3	0	1	0	2	1	3	0	3	3	4	3	5	3	4	3	3	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.421T>A	p.Trp141Arg	p.W141R	ENST00000542664	3/4	252	236	16	191	191	0	strelka-varscan-mutect	HTR2A,missense_variant,p.Trp141Arg,ENST00000542664,NM_000621.4;HTR2A,missense_variant,p.Trp141Arg,ENST00000378688,;HTR2A,missense_variant,p.Trp57Arg,ENST00000543956,NM_001165947.2;HTR2A,downstream_gene_variant,,ENST00000612998,;	T	ENST00000542664	Transcript	missense_variant	1152/5429	421/1416	141/471	W/R	Tgg/Agg		1		-1	HTR2A	HGNC	HGNC:5293	protein_coding	YES	CCDS9405.1	ENSP00000437737	P28223		UPI000000126E	NM_000621.4	deleterious(0)		3/4		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF30,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		rs1330614688	.												T	3	4	87	46892582	46892582	A	T	1	0	0	0	0	1	0	0	0	7337	159	6	4		4	HTR2A	13	46892582	Missense_Mutation	SNP	A	C3N-02003_TP	5652206	46892582	67471746	222	28602											
KPNA3	0	.	GRCh38	chr13	49722551	49722551	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacgaagaagtctcagaaaaAgaggtactgcatctgtaata	18	8	9	6	1	2	3	1	0	2	3	3	4	2	3	0	1	3	3	0	1	8	3	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.482T>G	p.Leu161Arg	p.L161R	ENST00000261667	8/17	94	86	8	131	131	0	strelka-varscan-mutect	KPNA3,missense_variant,p.Leu161Arg,ENST00000261667,NM_002267.3;	C	ENST00000261667	Transcript	missense_variant	897/4474	482/1566	161/521	L/R	cTt/cGt		1		-1	KPNA3	HGNC	HGNC:6396	protein_coding	YES	CCDS9421.1	ENSP00000261667	O00505	A0A024RDV7	UPI000012D5F9	NM_002267.3	tolerated(0.35)		8/17		PROSITE_profiles:PS50176,hmmpanther:PTHR23316,hmmpanther:PTHR23316:SF6,PIRSF_domain:PIRSF005673,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	49722551	49722551	A	C	1	0	0	0	0	1	0	0	0	8311	72	3	5		5	KPNA3	13	49722551	Missense_Mutation	SNP	A	C3N-02003_TP	2829969	49722551	64641777	223	28603											
COL4A1	0	.	GRCh38	chr13	110213955	110213955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtggtccctgtggcccctCaggtccttgcattccaggaa	5	11	12	13	0	1	0	1	0	0	0	4	1	4	1	5	5	1	1	5	5	1	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.205G>A	p.Glu69Lys	p.E69K	ENST00000375820	3/52	494	455	39	376	376	0	strelka-varscan-mutect	COL4A1,missense_variant,p.Glu69Lys,ENST00000375820,NM_001845.5;COL4A1,missense_variant,p.Glu69Lys,ENST00000543140,NM_001303110.1;COL4A1,missense_variant,p.Glu5Lys,ENST00000615732,;	T	ENST00000375820	Transcript	missense_variant	327/6532	205/5010	69/1669	E/K	Gag/Aag		1		-1	COL4A1	HGNC	HGNC:2202	protein_coding	YES	CCDS9511.1	ENSP00000364979	P02462		UPI000004981D	NM_001845.5	deleterious(0.01)		3/52		Pfam_domain:PF01391,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF543,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	110213955	110213955	C	T	1	0	0	0	0	1	0	0	0	3478	835	29	3		3	COL4A1	13	110213955	Missense_Mutation	SNP	C	C3N-02003_TP	60491404	110213955	4150373	224	28604											
TMCO3	0	.	GRCh38	chr13	113500058	113500058	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggaggatgacttgggtcTtagcatgctgattgactccc	8	12	13	8	0	1	3	0	3	1	0	2	5	2	5	1	3	2	2	1	3	1	3	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.725T>C	p.Leu242Pro	p.L242P	ENST00000434316	4/13	61	56	5	76	76	0	strelka-varscan-mutect	TMCO3,missense_variant,p.Leu242Pro,ENST00000434316,NM_017905.4;TMCO3,missense_variant,p.Leu242Pro,ENST00000474393,;TMCO3,missense_variant,p.Leu12Pro,ENST00000622371,;TMCO3,missense_variant,p.Leu242Pro,ENST00000375391,;TMCO3,missense_variant,p.Leu13Pro,ENST00000462877,;TMCO3,downstream_gene_variant,,ENST00000473287,;	C	ENST00000434316	Transcript	missense_variant	1084/3050	725/2034	242/677	L/P	cTt/cCt		1		1	TMCO3	HGNC	HGNC:20329	protein_coding	YES	CCDS9537.1	ENSP00000389399	Q6UWJ1	A0A024RE09	UPI000004C642	NM_017905.4	deleterious(0)		4/13		hmmpanther:PTHR16254:SF14,hmmpanther:PTHR16254																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	113500058	113500058	T	C	1	0	0	0	0	1	0	0	0	16443	1609	56	5		5	TMCO3	13	113500058	Missense_Mutation	SNP	T	C3N-02003_TP	3286103	113500058	864270	225	28605											
OR4M1	0	.	GRCh38	chr14	19780764	19780764	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtatcctggtggctctcTcctggatggggggcttcatt	3	14	14	10	0	2	0	1	0	1	0	5	1	4	1	2	6	0	4	2	6	1	3			C3N-02003_TP	C3N-02003_NB	T	T																c.442T>A	p.Ser148Thr	p.S148T	ENST00000315957	1/1	462	436	26	391	391	0	varscan-mutect	OR4M1,missense_variant,p.Ser148Thr,ENST00000315957,NM_001005500.1;OR4N2,intron_variant,,ENST00000557414,;	A	ENST00000315957	Transcript	missense_variant	523/1116	442/942	148/313	S/T	Tcc/Acc	COSM3494396	1		1	OR4M1	HGNC	HGNC:14735	protein_coding	YES	CCDS32021.1	ENSP00000319654	Q8NGD0	A0A126GWC3	UPI0000061F0F	NM_001005500.1	tolerated(0.16)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	87	19780764	19780764	T	A	1	0	0	0	0	1	0	0	0	11152	1551	54	4		4	OR4M1	14	19780764	Missense_Mutation	SNP	T	C3N-02003_TP		19780764	87262954	226	28606											
KLHL33	0	.	GRCh38	chr14	20429270	20429270	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaacgtccctggcttctcaAgtttggggtcatagtgcatc	8	12	11	10	1	2	0	2	0	1	0	5	1	3	0	1	3	2	3	1	3	3	3			C3N-02003_TP	C3N-02003_NB	A	A																c.1181T>G	p.Leu394Arg	p.L394R	ENST00000344581	4/4	424	393	31	350	347	3	strelka-varscan-mutect	KLHL33,missense_variant,p.Leu658Arg,ENST00000636854,;KLHL33,missense_variant,p.Leu394Arg,ENST00000344581,NM_001109997.2;KLHL33,3_prime_UTR_variant,,ENST00000637228,;	C	ENST00000344581	Transcript	missense_variant	1404/1863	1181/1602	394/533	L/R	cTt/cGt	COSM4750948,COSM4750949	1		-1	KLHL33	HGNC	HGNC:31952	protein_coding	YES	CCDS53882.1	ENSP00000341549	A6NCF5		UPI00016630E8	NM_001109997.2	tolerated_low_confidence(0.11)		4/4		hmmpanther:PTHR24412:SF195,hmmpanther:PTHR24412,PIRSF_domain:PIRSF037037,Gene3D:1zgkA00,SMART_domains:SM00612,Superfamily_domains:0052715											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												C	3	2	87	20429270	20429270	A	C	1	0	0	0	0	1	0	0	0	8252	72	3	5		5	KLHL33	14	20429270	Missense_Mutation	SNP	A	C3N-02003_TP	648506	20429270	86614448	227	28607											
ARHGAP5	0	.	GRCh38	chr14	32152521	32152521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagatacgtgataacacatCtaaacaggtatttttatttt	14	16	5	6	1	2	2	1	1	1	1	2	2	2	2	0	1	3	1	0	1	6	9	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.4174C>T	p.=	p.L1392L	ENST00000345122	6/7	98	90	8	99	99	0	varscan-mutect	ARHGAP5,synonymous_variant,p.=,ENST00000345122,NM_001030055.1;ARHGAP5,synonymous_variant,p.=,ENST00000396582,;ARHGAP5,synonymous_variant,p.=,ENST00000432921,;ARHGAP5,synonymous_variant,p.=,ENST00000539826,;ARHGAP5,synonymous_variant,p.=,ENST00000556611,NM_001173.2;ARHGAP5,synonymous_variant,p.=,ENST00000433497,;ARHGAP5,synonymous_variant,p.=,ENST00000554090,;ARHGAP5,3_prime_UTR_variant,,ENST00000557643,;ARHGAP5,upstream_gene_variant,,ENST00000216743,;	T	ENST00000345122	Transcript	synonymous_variant	4489/9604	4174/4509	1392/1502	L	Cta/Tta		1		1	ARHGAP5	HGNC	HGNC:675	protein_coding	YES	CCDS32062.1	ENSP00000371897	Q13017		UPI000057B85C	NM_001030055.1			6/7		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4,SMART_domains:SM00324,Superfamily_domains:SSF48350																	LOW	1	SNV	5			1										PASS		rs1374270897	.												T	2	4	87	32152521	32152521	C	T	1	0	0	0	0	0	0	0	1	1016	912	32	3		3	ARHGAP5	14	32152521	Silent	SNP	C	C3N-02003_TP	11723251	32152521	74891197	228	28608											
FAM179B	0	.	GRCh38	chr14	45011980	45011980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttcattgcaggtcagAcatatttccaacatttgggt	9	17	8	7	0	2	1	2	0	0	1	3	1	3	1	1	2	2	2	1	2	2	6	rs763560311		C3N-02003_TP	C3N-02003_NB	A	A																c.3143A>G	p.Asp1048Gly	p.D1048G	ENST00000361462	7/20	87	64	23	113	113	0	strelka-varscan-mutect	FAM179B,missense_variant,p.Asp1048Gly,ENST00000361462,NM_001308120.1;FAM179B,missense_variant,p.Asp1048Gly,ENST00000361577,NM_015091.2;KLHL28,intron_variant,,ENST00000556239,;KLHL28,intron_variant,,ENST00000553817,;FAM179B,synonymous_variant,p.=,ENST00000557423,;FAM179B,non_coding_transcript_exon_variant,,ENST00000556105,;FAM179B,downstream_gene_variant,,ENST00000555607,;	G	ENST00000361462	Transcript	missense_variant	3326/6375	3143/5322	1048/1773	D/G	gAc/gGc	rs763560311,COSM1251821	1		1	FAM179B	HGNC	HGNC:19959	protein_coding	YES	CCDS76676.1	ENSP00000354917		G3XAE9	UPI000022974E	NM_001308120.1	tolerated(0.13)		7/20		hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF6											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs763560311	.												G	3	3	87	45011980	45011980	A	G	1	0	0	0	0	1	0	0	0	5351	289	10	5		5	FAM179B	14	45011980	Missense_Mutation	SNP	A	C3N-02003_TP	12859459	45011980	62031738	229	28609											
KIAA0586	0	.	GRCh38	chr14	58488805	58488805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgttactgtcactgaaactGaaactttagataaacccatc	14	12	6	9	0	1	3	1	2	0	1	2	3	1	3	1	0	4	1	1	0	6	4	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.3871G>A	p.Glu1291Lys	p.E1291K	ENST00000354386	26/34	272	257	15	238	238	0	strelka-mutect	KIAA0586,missense_variant,p.Glu1223Lys,ENST00000619416,NM_001244190.1;KIAA0586,missense_variant,p.Glu1194Lys,ENST00000556134,;KIAA0586,missense_variant,p.Glu1153Lys,ENST00000619722,NM_001244191.1;KIAA0586,missense_variant,p.Glu1194Lys,ENST00000423743,NM_001244192.1;KIAA0586,missense_variant,p.Glu1291Lys,ENST00000354386,NM_001244189.1;KIAA0586,missense_variant,p.Glu1162Lys,ENST00000261244,NM_014749.3;KIAA0586,upstream_gene_variant,,ENST00000555397,;KIAA0586,non_coding_transcript_exon_variant,,ENST00000538571,;	A	ENST00000354386	Transcript	missense_variant	4115/5226	3871/4935	1291/1644	E/K	Gaa/Aaa		1		1	KIAA0586	HGNC	HGNC:19960	protein_coding	YES	CCDS58320.1	ENSP00000346359	Q9BVV6		UPI0001AE6998	NM_001244189.1	deleterious(0)		26/34		Low_complexity_(Seg):seg,hmmpanther:PTHR15721:SF2,hmmpanther:PTHR15721,Pfam_domain:PF15324																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	87	58488805	58488805	G	A	1	0	0	0	0	1	0	0	0	8089	1291	45	3		3	KIAA0586	14	58488805	Missense_Mutation	SNP	G	C3N-02003_TP	13476825	58488805	48554913	230	28610											
SLC8A3	0	.	GRCh38	chr14	70167618	70167618	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgataattcctcggtgttTgtctgtgcggtactttttgt	5	20	10	6	2	1	1	0	1	1	0	3	1	2	1	1	2	2	2	1	2	3	7	rs373562717		C3N-02003_TP	C3N-02003_NB	T	T																c.805A>T	p.Lys269Ter	p.K269*	ENST00000381269	2/8	423	367	56	432	432	0	strelka-varscan-mutect	SLC8A3,stop_gained,p.Lys269Ter,ENST00000381269,NM_183002.2;SLC8A3,stop_gained,p.Lys269Ter,ENST00000357887,NM_033262.4;SLC8A3,stop_gained,p.Lys269Ter,ENST00000356921,NM_182932.2;SLC8A3,stop_gained,p.Lys269Ter,ENST00000528359,;SLC8A3,stop_gained,p.Lys269Ter,ENST00000534137,NM_058240.3;SLC8A3,stop_gained,p.Lys269Ter,ENST00000494208,;	A	ENST00000381269	Transcript	stop_gained	1559/5268	805/2784	269/927	K/*	Aaa/Taa	rs373562717	1		-1	SLC8A3	HGNC	HGNC:11070	protein_coding	YES	CCDS35498.1	ENSP00000370669	P57103		UPI0000073C9A	NM_183002.2			2/8		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF7,TIGRFAM_domain:TIGR00845,Pfam_domain:PF16494																	HIGH	1	SNV	1			1										PASS		rs373562717	.												A	4	1	87	70167618	70167618	T	A	1	0	0	0	0	0	1	0	0	14991	1821	63	4		4	SLC8A3	14	70167618	Nonsense_Mutation	SNP	T	C3N-02003_TP	11678813	70167618	36876100	231	28611											
FAM161B	0	.	GRCh38	chr14	73946432	73946432	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagacaccatctccctttCtgcttcagttcctgtaagtt	9	14	5	13	0	3	1	1	0	2	1	5	1	4	1	3	0	2	4	3	0	2	5	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.417G>A	p.=	p.Q139Q	ENST00000286544	2/9	362	343	19	357	357	0	strelka-varscan-mutect	FAM161B,synonymous_variant,p.=,ENST00000286544,NM_152445.2;COQ6,upstream_gene_variant,,ENST00000334571,NM_182476.2;COQ6,upstream_gene_variant,,ENST00000394026,NM_182480.2;COQ6,upstream_gene_variant,,ENST00000629426,;COQ6,upstream_gene_variant,,ENST00000554320,;COQ6,upstream_gene_variant,,ENST00000554920,;COQ6,upstream_gene_variant,,ENST00000555552,;COQ6,upstream_gene_variant,,ENST00000554341,;COQ6,upstream_gene_variant,,ENST00000553462,;COQ6,upstream_gene_variant,,ENST00000556300,;COQ6,upstream_gene_variant,,ENST00000557205,;COQ6,upstream_gene_variant,,ENST00000557584,;COQ6,upstream_gene_variant,,ENST00000553922,;COQ6,upstream_gene_variant,,ENST00000555196,;COQ6,upstream_gene_variant,,ENST00000554193,;COQ6,upstream_gene_variant,,ENST00000554217,;	T	ENST00000286544	Transcript	synonymous_variant	616/4078	417/2133	139/710	Q	caG/caA		1		-1	FAM161B	HGNC	HGNC:19854	protein_coding	YES	CCDS9822.2	ENSP00000286544	Q96MY7		UPI000206535E	NM_152445.2			2/9		hmmpanther:PTHR21501,hmmpanther:PTHR21501:SF4																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	87	73946432	73946432	C	T	1	0	0	0	0	0	0	0	1	5322	912	32	3		3	FAM161B	14	73946432	Silent	SNP	C	C3N-02003_TP	3778814	73946432	33097286	232	28612											
FOS	0	.	GRCh38	chr14	75280812	75280812	+	Silent	SNP	T	T	C																															caactagaagatgagaagtcTgctttgcagaccgagattgc																								novel		C3N-02003_TP	C3N-02003_NB	T	T																c.531T>C	p.=	p.S177S	ENST00000303562	4/4	157	133	24	95	95	0	strelka-mutect	FOS,synonymous_variant,p.=,ENST00000303562,NM_005252.3;FOS,synonymous_variant,p.=,ENST00000555686,;FOS,synonymous_variant,p.=,ENST00000535987,;FOS,synonymous_variant,p.=,ENST00000555347,;FOS,synonymous_variant,p.=,ENST00000555672,;FOS,downstream_gene_variant,,ENST00000554617,;FOS,downstream_gene_variant,,ENST00000555242,;FOS,downstream_gene_variant,,ENST00000554212,;FOS,downstream_gene_variant,,ENST00000557139,;FOS,downstream_gene_variant,,ENST00000556324,;	C	ENST00000303562	Transcript	synonymous_variant	740/2158	531/1143	177/380	S	tcT/tcC		1		1	FOS	HGNC	HGNC:3796	protein_coding	YES	CCDS9841.1	ENSP00000306245	P01100	Q6FG41	UPI000000D8F5	NM_005252.3			4/4		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00170,Prints_domain:PR00042,PROSITE_profiles:PS50217,hmmpanther:PTHR23351,hmmpanther:PTHR23351:SF4,SMART_domains:SM00338,Superfamily_domains:SSF57959																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	87	75280812	75280812	T	C	1	0	0	0	0	0	0	0	1	5845	1567	55	5		5	FOS	14	75280812	Silent	SNP	T	C3N-02003_TP	1334380	75280812	31762906	233	28613	601	2									
FOS	0	.	GRCh38	chr14	75280816	75280816	+	Missense_Mutation	SNP	T	T	G																															tagaagatgagaagtctgctTtgcagaccgagattgccaac																								novel		C3N-02003_TP	C3N-02003_NB	T	T																c.535T>G	p.Leu179Val	p.L179V	ENST00000303562	4/4	164	137	27	108	108	0	strelka-mutect	FOS,missense_variant,p.Leu179Val,ENST00000303562,NM_005252.3;FOS,missense_variant,p.Leu65Val,ENST00000555686,;FOS,missense_variant,p.Leu143Val,ENST00000535987,;FOS,missense_variant,p.Leu31Val,ENST00000555347,;FOS,missense_variant,p.Leu29Val,ENST00000555672,;FOS,downstream_gene_variant,,ENST00000554617,;FOS,downstream_gene_variant,,ENST00000555242,;FOS,downstream_gene_variant,,ENST00000554212,;FOS,downstream_gene_variant,,ENST00000557139,;FOS,downstream_gene_variant,,ENST00000556324,;	G	ENST00000303562	Transcript	missense_variant	744/2158	535/1143	179/380	L/V	Ttg/Gtg		1		1	FOS	HGNC	HGNC:3796	protein_coding	YES	CCDS9841.1	ENSP00000306245	P01100	Q6FG41	UPI000000D8F5	NM_005252.3	deleterious(0)		4/4		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00170,Prints_domain:PR00042,PROSITE_profiles:PS50217,hmmpanther:PTHR23351,hmmpanther:PTHR23351:SF4,SMART_domains:SM00338,Superfamily_domains:SSF57959																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	75280816	75280816	T	G	1	0	0	0	0	1	0	0	0	5845	1838	64	5		5	FOS	14	75280816	Missense_Mutation	SNP	T	C3N-02003_TP	4	75280816	31762902	234	28614	601	2									
ANGEL1	0	.	GRCh38	chr14	76791319	76791319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagaaggcaggctcaagctCcgatgcatcttcctcaagga	11	7	12	11	1	3	1	2	0	1	1	5	4	5	2	2	4	2	4	2	4	3	1	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1666G>A	p.Glu556Lys	p.E556K	ENST00000251089	8/10	322	286	36	286	285	1	strelka-varscan-mutect	ANGEL1,missense_variant,p.Glu556Lys,ENST00000251089,NM_015305.3;ANGEL1,missense_variant,p.Glu121Lys,ENST00000557179,;ANGEL1,missense_variant,p.Glu26Lys,ENST00000555079,;RP11-488C13.5,upstream_gene_variant,,ENST00000556072,;	T	ENST00000251089	Transcript	missense_variant	1779/5176	1666/2013	556/670	E/K	Gag/Aag		1		-1	ANGEL1	HGNC	HGNC:19961	protein_coding	YES	CCDS9852.1	ENSP00000251089	Q9UNK9	A0A024R6B2	UPI0000139C7E	NM_015305.3	tolerated(0.32)		8/10		Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR12121,hmmpanther:PTHR12121:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	76791319	76791319	C	T	1	0	0	0	0	1	0	0	0	706	864	30	3		3	ANGEL1	14	76791319	Missense_Mutation	SNP	C	C3N-02003_TP	1510503	76791319	30252399	235	28615											
TSHR	0	.	GRCh38	chr14	81144073	81144073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctatccacttaactcctGtgccaatccattcctctatg	8	15	3	15	0	2	0	0	0	2	0	6	0	6	0	5	0	2	0	5	0	4	5	rs121908875		C3N-02003_TP	C3N-02003_NB	G	G																c.2015G>T	p.Cys672Phe	p.C672F	ENST00000541158	11/11	273	231	42	384	384	0	strelka-varscan-mutect	TSHR,missense_variant,p.Cys672Phe,ENST00000541158,;TSHR,missense_variant,p.Cys672Phe,ENST00000298171,NM_000369.2;RP11-114N19.3,intron_variant,,ENST00000557775,;TSHR,downstream_gene_variant,,ENST00000636454,;TSHR,missense_variant,p.Cys307Phe,ENST00000637447,;	T	ENST00000541158	Transcript	missense_variant	2337/4566	2015/2295	672/764	C/F	tGt/tTt	rs121908875,CM941337	1		1	TSHR	HGNC	HGNC:12373	protein_coding	YES	CCDS9872.1	ENSP00000441235		A0A0A0MTJ0	UPI000013E4A2		deleterious(0.03)		11/11		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF0,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix										pathogenic							MODERATE		SNV	5		1,1	1										PASS		rs121908875	.												T	3	4	87	81144073	81144073	G	T	1	0	0	0	0	1	0	0	0	17127	1377	48	2		2	TSHR	14	81144073	Missense_Mutation	SNP	G	C3N-02003_TP	4352754	81144073	25899645	236	28616											
C14orf159	0	.	GRCh38	chr14	91173319	91173319	+	Missense_Mutation	SNP	T	T	C																															cttgtgttacccatgctggcTtctgctgccctctggtggtc																										C3N-02003_TP	C3N-02003_NB	T	T																c.487T>C	p.Phe163Leu	p.F163L	ENST00000518868	9/17	314	286	28	288	288	0	strelka-varscan-mutect	C14orf159,missense_variant,p.Phe163Leu,ENST00000518868,NM_001286470.1;C14orf159,missense_variant,p.Phe158Leu,ENST00000523771,NM_001286471.1;C14orf159,missense_variant,p.Phe163Leu,ENST00000256324,NM_001102368.2;C14orf159,missense_variant,p.Phe158Leu,ENST00000522322,NM_001102367.2;C14orf159,missense_variant,p.Phe158Leu,ENST00000523816,NM_001102366.2;C14orf159,missense_variant,p.Phe163Leu,ENST00000521077,NM_001286472.1;C14orf159,missense_variant,p.Phe158Leu,ENST00000520328,NM_001102369.2;C14orf159,missense_variant,p.Phe163Leu,ENST00000412671,;C14orf159,missense_variant,p.Phe158Leu,ENST00000428926,NM_024952.7;C14orf159,missense_variant,p.Phe163Leu,ENST00000525393,;C14orf159,missense_variant,p.Phe163Leu,ENST00000517518,;C14orf159,missense_variant,p.Phe163Leu,ENST00000519950,;C14orf159,missense_variant,p.Phe163Leu,ENST00000522170,;C14orf159,downstream_gene_variant,,ENST00000521334,;C14orf159,downstream_gene_variant,,ENST00000523894,;C14orf159,downstream_gene_variant,,ENST00000521064,;C14orf159,downstream_gene_variant,,ENST00000518871,;C14orf159,intron_variant,,ENST00000518649,;C14orf159,missense_variant,p.Phe148Leu,ENST00000523461,;C14orf159,missense_variant,p.Phe65Leu,ENST00000517306,;C14orf159,synonymous_variant,p.=,ENST00000519994,;C14orf159,3_prime_UTR_variant,,ENST00000523837,;C14orf159,upstream_gene_variant,,ENST00000520130,;	C	ENST00000518868	Transcript	missense_variant	1177/3075	487/1866	163/621	F/L	Ttc/Ctc	COSM1246480	1		1	C14orf159	HGNC	HGNC:20498	protein_coding	YES	CCDS41979.1	ENSP00000428263	Q7Z3D6		UPI000000CC60	NM_001286470.1	tolerated(0.07)		9/17		hmmpanther:PTHR32022,PIRSF_domain:PIRSF037204,Pfam_domain:PF07286,Gene3D:2pifA01,Superfamily_domains:0054510											1						MODERATE	1	SNV	2		1	1										PASS		.	.												C	3	2	87	91173319	91173319	T	C	1	0	0	0	0	1	0	0	0	1830	1609	56	5		5	C14orf159	14	91173319	Missense_Mutation	SNP	T	C3N-02003_TP	10029246	91173319	15870399	237	28617	602	2									
C14orf159	0	.	GRCh38	chr14	91173325	91173325	+	Missense_Mutation	SNP	T	T	G																															ttacccatgctggcttctgcTgccctctggtggtcacgatg																								novel		C3N-02003_TP	C3N-02003_NB	T	T																c.493T>G	p.Cys165Gly	p.C165G	ENST00000518868	9/17	311	284	27	294	294	0	strelka-varscan-mutect	C14orf159,missense_variant,p.Cys165Gly,ENST00000518868,NM_001286470.1;C14orf159,missense_variant,p.Cys160Gly,ENST00000523771,NM_001286471.1;C14orf159,missense_variant,p.Cys165Gly,ENST00000256324,NM_001102368.2;C14orf159,missense_variant,p.Cys160Gly,ENST00000522322,NM_001102367.2;C14orf159,missense_variant,p.Cys160Gly,ENST00000523816,NM_001102366.2;C14orf159,missense_variant,p.Cys165Gly,ENST00000521077,NM_001286472.1;C14orf159,missense_variant,p.Cys160Gly,ENST00000520328,NM_001102369.2;C14orf159,missense_variant,p.Cys165Gly,ENST00000412671,;C14orf159,missense_variant,p.Cys160Gly,ENST00000428926,NM_024952.7;C14orf159,missense_variant,p.Cys165Gly,ENST00000525393,;C14orf159,missense_variant,p.Cys165Gly,ENST00000517518,;C14orf159,missense_variant,p.Cys165Gly,ENST00000519950,;C14orf159,missense_variant,p.Cys165Gly,ENST00000522170,;C14orf159,downstream_gene_variant,,ENST00000521334,;C14orf159,downstream_gene_variant,,ENST00000523894,;C14orf159,downstream_gene_variant,,ENST00000521064,;C14orf159,downstream_gene_variant,,ENST00000518871,;C14orf159,intron_variant,,ENST00000518649,;C14orf159,missense_variant,p.Cys150Gly,ENST00000523461,;C14orf159,missense_variant,p.Cys67Gly,ENST00000517306,;C14orf159,synonymous_variant,p.=,ENST00000519994,;C14orf159,3_prime_UTR_variant,,ENST00000523837,;C14orf159,upstream_gene_variant,,ENST00000520130,;	G	ENST00000518868	Transcript	missense_variant	1183/3075	493/1866	165/621	C/G	Tgc/Ggc		1		1	C14orf159	HGNC	HGNC:20498	protein_coding	YES	CCDS41979.1	ENSP00000428263	Q7Z3D6		UPI000000CC60	NM_001286470.1	deleterious(0.05)		9/17		hmmpanther:PTHR32022,PIRSF_domain:PIRSF037204,Pfam_domain:PF07286,Gene3D:2pifA01,Superfamily_domains:0054510																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	87	91173325	91173325	T	G	1	0	0	0	0	1	0	0	0	1830	1580	55	5		5	C14orf159	14	91173325	Missense_Mutation	SNP	T	C3N-02003_TP	6	91173325	15870393	238	28618	602	2									
DYNC1H1	0	.	GRCh38	chr14	102036593	102036593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcctggatgacgccttcaGaaagaacttagagagtgcac	12	9	10	10	1	1	4	1	1	0	3	2	6	2	5	2	1	2	1	2	1	3	3			C3N-02003_TP	C3N-02003_NB	G	G																c.10859G>A	p.Arg3620Lys	p.R3620K	ENST00000360184	57/78	515	479	36	478	478	0	strelka-varscan-mutect	DYNC1H1,missense_variant,p.Arg3620Lys,ENST00000360184,NM_001376.4;DYNC1H1,missense_variant,p.Arg96Lys,ENST00000553423,;RP11-1017G21.4,non_coding_transcript_exon_variant,,ENST00000557551,;RP11-1017G21.4,downstream_gene_variant,,ENST00000557242,;RP11-1017G21.4,downstream_gene_variant,,ENST00000553701,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000556791,;DYNC1H1,upstream_gene_variant,,ENST00000556139,;DYNC1H1,upstream_gene_variant,,ENST00000556499,;DYNC1H1,upstream_gene_variant,,ENST00000555800,;	A	ENST00000360184	Transcript	missense_variant	11023/14333	10859/13941	3620/4646	R/K	aGa/aAa	COSM1300393	1		1	DYNC1H1	HGNC	HGNC:2961	protein_coding	YES	CCDS9966.1	ENSP00000348965	Q14204		UPI00001B515A	NM_001376.4	tolerated(0.09)		57/78		Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF28											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	87	102036593	102036593	G	A	1	0	0	0	0	1	0	0	0	4665	942	33	3		3	DYNC1H1	14	102036593	Missense_Mutation	SNP	G	C3N-02003_TP	10863268	102036593	5007125	239	28619											
NDN	0	.	GRCh38	chr15	23686876	23686876	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccagatgatcatcttcttCtggtccttgaccagcacgta	10	12	7	12	1	4	3	1	2	3	1	5	3	5	3	3	1	2	2	3	1	2	4	rs554311163		C3N-02003_TP	C3N-02003_NB	C	C																c.342G>A	p.=	p.Q114Q	ENST00000331837	1/1	240	227	13	239	238	1	strelka-varscan-mutect	NDN,synonymous_variant,p.=,ENST00000331837,NM_002487.2;	T	ENST00000331837	Transcript	synonymous_variant	455/1931	342/966	114/321	Q	caG/caA	rs554311163	1		-1	NDN	HGNC	HGNC:7675	protein_coding	YES	CCDS10014.1	ENSP00000332643	Q99608	X5D982	UPI000012FEF1	NM_002487.2			1/1		Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF10,SMART_domains:SM01373																	LOW	1	SNV				1										PASS		rs554311163	.												T	2	4	87	23686876	23686876	C	T	1	0	0	0	0	0	0	0	1	10268	912	32	3		3	NDN	15	23686876	Silent	SNP	C	C3N-02003_TP		23686876	78304313	240	28620											
CILP	0	.	GRCh38	chr15	65198482	65198482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaactcctggatggaatctCcagttcagccatggggtctt	9	11	11	10	0	3	0	1	0	2	0	5	3	4	2	3	4	2	1	3	4	2	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1804G>A	p.Glu602Lys	p.E602K	ENST00000261883	9/9	293	278	15	281	281	0	strelka-varscan-mutect	CILP,missense_variant,p.Glu602Lys,ENST00000261883,NM_003613.3;	T	ENST00000261883	Transcript	missense_variant	1971/5695	1804/3555	602/1184	E/K	Gag/Aag		1		-1	CILP	HGNC	HGNC:1980	protein_coding	YES	CCDS10203.1	ENSP00000261883	O75339		UPI000013D21B	NM_003613.3	tolerated(0.18)		9/9		hmmpanther:PTHR15031																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	65198482	65198482	C	T	1	0	0	0	0	1	0	0	0	3191	864	30	3		3	CILP	15	65198482	Missense_Mutation	SNP	C	C3N-02003_TP	41511606	65198482	36792707	241	28621											
WHAMM	0	.	GRCh38	chr15	82818035	82818035	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcgagagactctgcaactCatgagagcgaaagagttgtg	12	8	13	8	2	2	3	1	1	1	3	3	7	2	3	0	0	3	3	0	0	2	1	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1050C>T	p.=	p.L350L	ENST00000286760	4/10	134	125	9	141	141	0	varscan-mutect	WHAMM,synonymous_variant,p.=,ENST00000286760,NM_001080435.2;WHAMM,non_coding_transcript_exon_variant,,ENST00000560964,;	T	ENST00000286760	Transcript	synonymous_variant	1149/5101	1050/2430	350/809	L	ctC/ctT		1		1	WHAMM	HGNC	HGNC:30493	protein_coding	YES	CCDS45333.1	ENSP00000286760	Q8TF30		UPI00001C1F94	NM_001080435.2			4/10		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15871,hmmpanther:PTHR23330,hmmpanther:PTHR23330:SF6																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	87	82818035	82818035	C	T	1	0	0	0	0	0	0	0	1	17918	813	29	3		3	WHAMM	15	82818035	Silent	SNP	C	C3N-02003_TP	17619553	82818035	19173154	242	28622											
TM6SF1	0	.	GRCh38	chr15	83112877	83112877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctcgtcaaaagaaaacCaccccgggacccactgttct	11	8	7	15	2	2	1	1	0	1	1	4	2	3	2	5	1	1	1	5	1	4	1	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.173C>T	p.Pro58Leu	p.P58L	ENST00000322019	2/10	301	283	18	234	234	0	strelka-varscan-mutect	TM6SF1,missense_variant,p.Pro58Leu,ENST00000322019,NM_023003.3;TM6SF1,missense_variant,p.Pro58Leu,ENST00000379390,;TM6SF1,missense_variant,p.Pro58Leu,ENST00000565774,NM_001144903.1;RP11-382A20.3,3_prime_UTR_variant,,ENST00000568294,;TM6SF1,5_prime_UTR_variant,,ENST00000565982,;RP11-382A20.2,downstream_gene_variant,,ENST00000565513,;TM6SF1,non_coding_transcript_exon_variant,,ENST00000564988,;TM6SF1,missense_variant,p.Pro58Leu,ENST00000379384,;TM6SF1,missense_variant,p.Pro58Leu,ENST00000258909,;	T	ENST00000322019	Transcript	missense_variant	447/2074	173/1113	58/370	P/L	cCa/cTa		1		1	TM6SF1	HGNC	HGNC:11860	protein_coding	YES	CCDS10323.1	ENSP00000317000	Q9BZW5		UPI0000039EA7	NM_023003.3	tolerated(0.17)		2/10		hmmpanther:PTHR14568,hmmpanther:PTHR14568:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	83112877	83112877	C	T	1	0	0	0	0	1	0	0	0	16417	594	21	3		3	TM6SF1	15	83112877	Missense_Mutation	SNP	C	C3N-02003_TP	294842	83112877	18878312	243	28623											
PDE8A	0	.	GRCh38	chr15	85120999	85120999	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgataaatgcaatatatTtaaaaacatggagaggtaag	20	10	9	2	0	0	3	0	1	0	2	0	4	0	3	0	2	2	2	0	2	9	6	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1937T>G	p.Phe646Cys	p.F646C	ENST00000310298	19/23	125	116	9	68	68	0	strelka-varscan-mutect	PDE8A,missense_variant,p.Phe646Cys,ENST00000310298,;PDE8A,missense_variant,p.Phe646Cys,ENST00000394553,NM_002605.2;PDE8A,missense_variant,p.Phe574Cys,ENST00000557957,NM_001243137.1;PDE8A,missense_variant,p.Phe600Cys,ENST00000339708,NM_173454.1;PDE8A,3_prime_UTR_variant,,ENST00000485596,;PDE8A,3_prime_UTR_variant,,ENST00000478717,;PDE8A,3_prime_UTR_variant,,ENST00000559742,;PDE8A,non_coding_transcript_exon_variant,,ENST00000560789,;PDE8A,non_coding_transcript_exon_variant,,ENST00000561024,;PDE8A,downstream_gene_variant,,ENST00000561374,;PDE8A,downstream_gene_variant,,ENST00000560333,;	G	ENST00000310298	Transcript	missense_variant	2189/3984	1937/2490	646/829	F/C	tTt/tGt		1		1	PDE8A	HGNC	HGNC:8793	protein_coding	YES	CCDS10336.1	ENSP00000311453	O60658		UPI0000127C00		deleterious(0)		19/23		Gene3D:1.10.1300.10,Pfam_domain:PF00233,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF85,SMART_domains:SM00471,Superfamily_domains:SSF109604																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	85120999	85120999	T	G	1	0	0	0	0	1	0	0	0	11741	1841	64	5		5	PDE8A	15	85120999	Missense_Mutation	SNP	T	C3N-02003_TP	2008122	85120999	16870190	244	28624											
KIF7	0	.	GRCh38	chr15	89648556	89648556	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggtggatgatgcgggtcTcggagcggtgccgtggcgga	4	7	21	9	7	1	1	0	1	1	0	2	4	1	4	1	7	3	0	1	7	0	0	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1142A>G	p.Glu381Gly	p.E381G	ENST00000394412	5/19	135	126	9	109	109	0	strelka-varscan-mutect	KIF7,missense_variant,p.Glu381Gly,ENST00000394412,NM_198525.2;KIF7,3_prime_UTR_variant,,ENST00000445906,;	C	ENST00000394412	Transcript	missense_variant	1219/4551	1142/4032	381/1343	E/G	gAg/gGg		1		-1	KIF7	HGNC	HGNC:30497	protein_coding	YES	CCDS32325.2	ENSP00000377934	Q2M1P5		UPI00015F81C7	NM_198525.2	tolerated(0.07)		5/19																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	87	89648556	89648556	T	C	1	0	0	0	0	1	0	0	0	8174	1551	54	5		5	KIF7	15	89648556	Missense_Mutation	SNP	T	C3N-02003_TP	4527557	89648556	12342633	245	28625											
WDR93	0	.	GRCh38	chr15	89733033	89733033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggggtcgctgctcttcCtcagggatgtttctgccaaa	5	14	11	11	1	4	0	1	0	3	0	6	1	5	1	2	3	2	3	2	3	1	3	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1358C>T	p.Pro453Leu	p.P453L	ENST00000268130	13/17	235	187	48	190	190	0	strelka-varscan-mutect	WDR93,missense_variant,p.Pro453Leu,ENST00000268130,NM_020212.1;WDR93,intron_variant,,ENST00000560294,NM_001284395.1;WDR93,non_coding_transcript_exon_variant,,ENST00000444934,;WDR93,downstream_gene_variant,,ENST00000557825,;	T	ENST00000268130	Transcript	missense_variant	1459/2409	1358/2061	453/686	P/L	cCt/cTt		1		1	WDR93	HGNC	HGNC:26924	protein_coding	YES	CCDS32326.1	ENSP00000268130	Q6P2C0		UPI00001D77A7	NM_020212.1	tolerated(1)		13/17		hmmpanther:PTHR12219:SF17,hmmpanther:PTHR12219,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	89733033	89733033	C	T	1	0	0	0	0	1	0	0	0	17896	681	24	3		3	WDR93	15	89733033	Missense_Mutation	SNP	C	C3N-02003_TP	84477	89733033	12258156	246	28626											
FURIN	0	.	GRCh38	chr15	90880958	90880958	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaagttcaccctcgtactCtatggcaccgcccctgaggg	8	8	9	16	2	2	1	1	1	1	0	3	1	2	1	5	2	1	3	5	2	3	3	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1710C>G	p.=	p.L570L	ENST00000618099	15/16	253	236	17	180	180	0	strelka-varscan-mutect	FURIN,synonymous_variant,p.=,ENST00000618099,NM_001289824.1;FURIN,synonymous_variant,p.=,ENST00000268171,NM_002569.3;FURIN,synonymous_variant,p.=,ENST00000610579,NM_001289823.1;FES,upstream_gene_variant,,ENST00000328850,NM_002005.3;FES,upstream_gene_variant,,ENST00000414248,NM_001143785.1;FES,upstream_gene_variant,,ENST00000394300,NM_001143783.1;FES,upstream_gene_variant,,ENST00000444422,NM_001143784.1;FES,upstream_gene_variant,,ENST00000394302,;FES,upstream_gene_variant,,ENST00000452243,;FURIN,downstream_gene_variant,,ENST00000559353,;FES,upstream_gene_variant,,ENST00000559355,;FURIN,downstream_gene_variant,,ENST00000560824,;FES,upstream_gene_variant,,ENST00000443697,;FES,upstream_gene_variant,,ENST00000416779,;FES,upstream_gene_variant,,ENST00000464684,;FES,upstream_gene_variant,,ENST00000470152,;FURIN,downstream_gene_variant,,ENST00000558794,;FES,upstream_gene_variant,,ENST00000481665,;FES,upstream_gene_variant,,ENST00000497945,;FURIN,downstream_gene_variant,,ENST00000560018,;	G	ENST00000618099	Transcript	synonymous_variant	2090/4345	1710/2385	570/794	L	ctC/ctG		1		1	FURIN	HGNC	HGNC:8568	protein_coding	YES	CCDS10364.1	ENSP00000483552	P09958	A0A024RC70	UPI0000000CC7	NM_001289824.1			15/16		hmmpanther:PTHR10795:SF379,hmmpanther:PTHR10795,Gene3D:2.60.120.260,Superfamily_domains:SSF49785																	LOW		SNV	5			1										PASS		.	.												G	2	3	87	90880958	90880958	C	G	1	0	0	0	0	0	0	0	1	5971	900	32	4		4	FURIN	15	90880958	Silent	SNP	C	C3N-02003_TP	1147925	90880958	11110231	247	28627											
PIGQ	0	.	GRCh38	chr16	574457	574457	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaggaccaggtcatgcTcatcttctatgaccagcgcc	8	10	11	12	1	4	2	2	2	2	0	4	3	4	3	3	3	2	1	3	3	1	2	rs760925678		C3N-02003_TP	C3N-02003_NB	T	T																c.383T>A	p.Leu128His	p.L128H	ENST00000026218	2/10	409	346	63	363	363	0	strelka-varscan-mutect	PIGQ,missense_variant,p.Leu128His,ENST00000321878,NM_004204.3;PIGQ,missense_variant,p.Leu128His,ENST00000026218,NM_148920.2;PIGQ,missense_variant,p.Leu128His,ENST00000470411,;PIGQ,missense_variant,p.Leu128His,ENST00000422307,;PIGQ,missense_variant,p.Leu128His,ENST00000409527,;PIGQ,missense_variant,p.Leu128His,ENST00000293874,;NHLRC4,downstream_gene_variant,,ENST00000424439,NM_176677.2,NM_001301159.1;NHLRC4,downstream_gene_variant,,ENST00000540585,;PIGQ,upstream_gene_variant,,ENST00000540241,;PIGQ,downstream_gene_variant,,ENST00000439574,;LA16c-407A10.3,non_coding_transcript_exon_variant,,ENST00000635107,;LA16c-407A10.3,non_coding_transcript_exon_variant,,ENST00000409439,;PIGQ,upstream_gene_variant,,ENST00000635935,;PIGQ,upstream_gene_variant,,ENST00000544860,;PIGQ,downstream_gene_variant,,ENST00000637701,;PIGQ,missense_variant,p.Leu142His,ENST00000443147,;PIGQ,intron_variant,,ENST00000636657,;PIGQ,intron_variant,,ENST00000635909,;PIGQ,upstream_gene_variant,,ENST00000480424,;PIGQ,upstream_gene_variant,,ENST00000636005,;PIGQ,upstream_gene_variant,,ENST00000635205,;PIGQ,upstream_gene_variant,,ENST00000420990,;PIGQ,upstream_gene_variant,,ENST00000637468,;PIGQ,upstream_gene_variant,,ENST00000638143,;PIGQ,upstream_gene_variant,,ENST00000537901,;	A	ENST00000026218	Transcript	missense_variant	471/2846	383/2283	128/760	L/H	cTc/cAc	rs760925678	1		1	PIGQ	HGNC	HGNC:14135	protein_coding	YES	CCDS10411.1	ENSP00000026218	Q9BRB3		UPI000006CC88	NM_148920.2	deleterious_low_confidence(0)		2/10		hmmpanther:PTHR21329,hmmpanther:PTHR21329:SF3																	MODERATE	1	SNV	1			1										PASS		rs760925678	.												A	3	1	87	574457	574457	T	A	1	0	0	0	0	1	0	0	0	11990	1551	54	4		4	PIGQ	16	574457	Missense_Mutation	SNP	T	C3N-02003_TP		574457	89763888	248	28628											
PRSS21	0	.	GRCh38	chr16	2821575	2821575	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctactctttttccctcttctCtgggctctcccactcctggg	2	16	6	17	0	4	0	0	0	4	0	8	0	6	0	3	2	1	1	3	2	1	4	rs201178045		C3N-02003_TP	C3N-02003_NB	C	C																c.915C>G	p.=	p.L305L	ENST00000005995	6/6	153	143	10	131	131	0	strelka-varscan-mutect	PRSS21,synonymous_variant,p.=,ENST00000450020,NM_144957.2;PRSS21,synonymous_variant,p.=,ENST00000005995,NM_144956.2,NM_006799.3;PRSS21,synonymous_variant,p.=,ENST00000574265,;PRSS21,3_prime_UTR_variant,,ENST00000574813,NM_001270452.1;PRSS21,intron_variant,,ENST00000575739,;PRSS21,downstream_gene_variant,,ENST00000577043,;PRSS21,downstream_gene_variant,,ENST00000570594,;PRSS21,downstream_gene_variant,,ENST00000575199,;PRSS21,downstream_gene_variant,,ENST00000570629,;PRSS21,downstream_gene_variant,,ENST00000571141,;EIF1P4,downstream_gene_variant,,ENST00000572664,;	G	ENST00000005995	Transcript	synonymous_variant	957/1101	915/945	305/314	L	ctC/ctG	rs201178045	1		1	PRSS21	HGNC	HGNC:9485	protein_coding	YES	CCDS10478.1	ENSP00000005995	Q9Y6M0		UPI000004813E	NM_144956.2,NM_006799.3			6/6		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs201178045	.												G	2	3	87	2821575	2821575	C	G	1	0	0	0	0	0	0	0	1	12765	900	32	4		4	PRSS21	16	2821575	Silent	SNP	C	C3N-02003_TP	2247118	2821575	87516770	249	28629											
CREBBP	0	.	GRCh38	chr16	3850337	3850337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggtgttcagtcccgcgTgaccagtcatttgcggggaa	6	10	15	10	4	2	1	2	1	0	0	3	2	3	2	2	3	2	1	2	3	1	2	rs142268920		C3N-02003_TP	C3N-02003_NB	T	T																c.758A>G	p.His253Arg	p.H253R	ENST00000262367	2/31	311	263	48	249	249	0	strelka-varscan-mutect	CREBBP,missense_variant,p.His253Arg,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.His253Arg,ENST00000382070,NM_001079846.1;CREBBP,upstream_gene_variant,,ENST00000636895,;	C	ENST00000262367	Transcript	missense_variant	1568/10803	758/7329	253/2442	H/R	cAc/cGc	rs142268920,COSM109403	1		-1	CREBBP	HGNC	HGNC:2348	protein_coding	YES	CCDS10509.1	ENSP00000262367	Q92793		UPI0000000620	NM_004380.2	tolerated(0.09)		2/31		hmmpanther:PTHR13808:SF5,hmmpanther:PTHR13808											1,1						MODERATE	1	SNV	1		0,1	1										PASS		rs142268920	.												C	3	2	87	3850337	3850337	T	C	1	0	0	0	0	1	0	0	0	3661	1696	59	5		5	CREBBP	16	3850337	Missense_Mutation	SNP	T	C3N-02003_TP	1028762	3850337	86488008	250	28630											
KIAA0430	0	.	GRCh38	chr16	15633711	15633711	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctgtggcctttaaaaaacTtctcacggattctttgcaca	10	14	6	11	1	3	0	1	0	3	0	4	1	3	1	1	2	2	1	1	2	3	5	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1139A>C	p.Lys380Thr	p.K380T	ENST00000396368	5/27	260	243	17	290	290	0	strelka-varscan-mutect	KIAA0430,missense_variant,p.Lys380Thr,ENST00000396368,NM_014647.3;KIAA0430,missense_variant,p.Lys380Thr,ENST00000540441,;KIAA0430,missense_variant,p.Lys380Thr,ENST00000551742,NM_001184998.1;KIAA0430,missense_variant,p.Lys377Thr,ENST00000548025,NM_001184999.1;KIAA0430,downstream_gene_variant,,ENST00000549219,;KIAA0430,missense_variant,p.Lys380Thr,ENST00000552553,;KIAA0430,non_coding_transcript_exon_variant,,ENST00000548216,;	G	ENST00000396368	Transcript	missense_variant	1346/7743	1139/5229	380/1742	K/T	aAg/aCg		1		-1	KIAA0430	HGNC	HGNC:29562	protein_coding	YES	CCDS10562.2	ENSP00000379654	Q9Y4F3		UPI00006881BC	NM_014647.3	tolerated(0.07)		5/27		Gene3D:3.40.50.1010,Pfam_domain:PF01936,hmmpanther:PTHR14379,hmmpanther:PTHR14379:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	15633711	15633711	T	G	1	0	0	0	0	1	0	0	0	8086	1609	56	5		5	KIAA0430	16	15633711	Missense_Mutation	SNP	T	C3N-02003_TP	11783374	15633711	74704634	251	28631											
VWA3A	0	.	GRCh38	chr16	22142683	22142683	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaggctcagtgtacaagaAgtaccctcaaggaaggggct	12	8	12	9	0	3	1	2	0	1	1	3	2	3	2	1	4	2	4	1	4	7	3	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.2510A>C	p.Lys837Thr	p.K837T	ENST00000389398	25/34	184	163	21	211	210	1	strelka-varscan-mutect	VWA3A,missense_variant,p.Lys837Thr,ENST00000389398,NM_173615.4;VWA3A,downstream_gene_variant,,ENST00000568328,;VWA3A,upstream_gene_variant,,ENST00000563755,;VWA3A,downstream_gene_variant,,ENST00000563389,;VWA3A,3_prime_UTR_variant,,ENST00000299840,;VWA3A,downstream_gene_variant,,ENST00000566668,;	C	ENST00000389398	Transcript	missense_variant	2606/4600	2510/3555	837/1184	K/T	aAg/aCg		1		1	VWA3A	HGNC	HGNC:27088	protein_coding	YES	CCDS45441.1	ENSP00000374049	A6NCI4		UPI0001663067	NM_173615.4	deleterious(0)		25/34																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	87	22142683	22142683	A	C	1	0	0	0	0	1	0	0	0	17794	72	3	5		5	VWA3A	16	22142683	Missense_Mutation	SNP	A	C3N-02003_TP	6508972	22142683	68195662	252	28632											
ERN2	0	.	GRCh38	chr16	23695268	23695268	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtccccgctcggtgcagaAgtagcggagcacgttggggt	6	7	18	10	4	0	1	0	0	0	1	2	2	1	2	2	5	3	5	2	5	2	2	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.1876T>G	p.Phe626Val	p.F626V	ENST00000634482	15/22	335	310	25	229	229	0	strelka-varscan-mutect	ERN2,missense_variant,p.Phe626Val,ENST00000634482,NM_033266.3;ERN2,missense_variant,p.Phe578Val,ENST00000256797,;ERN2,missense_variant,p.Phe526Val,ENST00000457008,NM_001308220.1;PLK1,downstream_gene_variant,,ENST00000300093,NM_005030.4;CTD-2196E14.8,downstream_gene_variant,,ENST00000624143,;ERN2,3_prime_UTR_variant,,ENST00000562562,;PLK1,downstream_gene_variant,,ENST00000562272,;ERN2,upstream_gene_variant,,ENST00000562458,;	C	ENST00000634482	Transcript	missense_variant	2045/3616	1876/2925	626/974	F/V	Ttc/Gtc		1		-1	ERN2	HGNC	HGNC:16942	protein_coding	YES	CCDS32407.1	ENSP00000489461		A0A0U1RRC7	UPI000041A8F8	NM_033266.3	deleterious(0)		15/22		PROSITE_profiles:PS50011,hmmpanther:PTHR13954,hmmpanther:PTHR13954:SF15,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	23695268	23695268	A	C	1	0	0	0	0	1	0	0	0	5096	72	3	5		5	ERN2	16	23695268	Missense_Mutation	SNP	A	C3N-02003_TP	1552585	23695268	66643077	253	28633											
KIF22	0	.	GRCh38	chr16	29798464	29798464	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcacttgctggaagggcaGaatgccagtgtgcttgccta	9	9	14	9	0	0	1	0	0	0	1	0	2	0	2	2	3	4	4	2	3	3	3	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.357G>C	p.Gln119His	p.Q119H	ENST00000160827	3/14	267	240	27	229	229	0	strelka-varscan-mutect	KIF22,missense_variant,p.Gln51His,ENST00000561482,NM_001256269.1,NM_001256270.1;KIF22,missense_variant,p.Gln51His,ENST00000400751,;KIF22,missense_variant,p.Gln119His,ENST00000160827,NM_007317.2;KIF22,missense_variant,p.Gln51His,ENST00000569382,;KIF22,missense_variant,p.Gln51His,ENST00000569636,;KIF22,upstream_gene_variant,,ENST00000563263,;KIF22,3_prime_UTR_variant,,ENST00000570173,;KIF22,non_coding_transcript_exon_variant,,ENST00000563666,;KIF22,upstream_gene_variant,,ENST00000565736,;	C	ENST00000160827	Transcript	missense_variant	397/2113	357/1998	119/665	Q/H	caG/caC		1		1	KIF22	HGNC	HGNC:6391	protein_coding	YES	CCDS10653.1	ENSP00000160827	Q14807		UPI00000012C0	NM_007317.2	deleterious(0)		3/14		Gene3D:3.40.850.10,Pfam_domain:PF00225,Prints_domain:PR00380,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF462,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1300084174	.												C	3	2	87	29798464	29798464	G	C	1	0	0	0	0	1	0	0	0	8155	933	33	4		4	KIF22	16	29798464	Missense_Mutation	SNP	G	C3N-02003_TP	6103196	29798464	60539881	254	28634											
TAOK2	0	.	GRCh38	chr16	29979467	29979467	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggggcagtacgatggcaAagtggacgtctggtccttgg	8	9	17	7	2	1	1	0	1	1	0	2	3	2	2	1	6	1	3	1	6	2	2			C3N-02003_TP	C3N-02003_NB	A	A																c.614A>C	p.Lys205Thr	p.K205T	ENST00000308893	8/16	43	36	7	40	40	0	strelka-varscan-mutect	TAOK2,missense_variant,p.Lys205Thr,ENST00000308893,NM_016151.3;TAOK2,missense_variant,p.Lys205Thr,ENST00000279394,NM_004783.3;TAOK2,missense_variant,p.Lys205Thr,ENST00000543033,NM_001252043.1;TAOK2,upstream_gene_variant,,ENST00000416441,;	C	ENST00000308893	Transcript	missense_variant	1657/5169	614/3708	205/1235	K/T	aAa/aCa	COSM4151305,COSM4151306	1		1	TAOK2	HGNC	HGNC:16835	protein_coding	YES	CCDS10663.1	ENSP00000310094	Q9UL54		UPI000013EDDA	NM_016151.3	deleterious(0)		8/16		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF188,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	87	29979467	29979467	A	C	1	0	0	0	0	1	0	0	0	15947	14	1	5		5	TAOK2	16	29979467	Missense_Mutation	SNP	A	C3N-02003_TP	181003	29979467	60358878	255	28635											
KIFC3	0	.	GRCh38	chr16	57795067	57795067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgctaagggctcggcactGagctagggctgggcgagctg	7	6	17	11	3	0	1	0	1	0	0	1	2	0	1	0	4	2	6	0	4	2	2			C3N-02003_TP	C3N-02003_NB	G	G																c.247C>A	p.Gln83Lys	p.Q83K	ENST00000379655	3/19	267	249	18	210	210	0	strelka-varscan-mutect	KIFC3,missense_variant,p.Gln83Lys,ENST00000379655,NM_005550.3;KIFC3,missense_variant,p.Gln83Lys,ENST00000445690,NM_001318710.1,NM_001130100.1;KIFC3,missense_variant,p.Gln105Lys,ENST00000541240,;KIFC3,missense_variant,p.Gln132Lys,ENST00000563028,;KIFC3,missense_variant,p.Gln111Lys,ENST00000566648,;KIFC3,missense_variant,p.Gln83Lys,ENST00000565684,;KIFC3,missense_variant,p.Gln105Lys,ENST00000567059,;KIFC3,missense_variant,p.Gln83Lys,ENST00000564891,;KIFC3,5_prime_UTR_variant,,ENST00000465878,NM_001318715.1;KIFC3,5_prime_UTR_variant,,ENST00000421376,NM_001130099.1;KIFC3,5_prime_UTR_variant,,ENST00000565481,;KIFC3,5_prime_UTR_variant,,ENST00000562311,;KIFC3,5_prime_UTR_variant,,ENST00000562503,;KIFC3,5_prime_UTR_variant,,ENST00000561524,;KIFC3,5_prime_UTR_variant,,ENST00000569112,;KIFC3,5_prime_UTR_variant,,ENST00000562984,;CTD-2600O9.1,upstream_gene_variant,,ENST00000568697,;CTD-2600O9.1,upstream_gene_variant,,ENST00000620696,;KIFC3,non_coding_transcript_exon_variant,,ENST00000566975,;KIFC3,non_coding_transcript_exon_variant,,ENST00000565871,;KIFC3,intron_variant,,ENST00000567204,;KIFC3,non_coding_transcript_exon_variant,,ENST00000566914,;	T	ENST00000379655	Transcript	missense_variant	505/3427	247/2502	83/833	Q/K	Cag/Aag	COSM3818166	1		-1	KIFC3	HGNC	HGNC:6326	protein_coding	YES	CCDS10789.2	ENSP00000368976	Q9BVG8		UPI000059D399	NM_005550.3	tolerated_low_confidence(0.19)		3/19													1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	87	57795067	57795067	G	T	1	0	0	0	0	1	0	0	0	8179	1299	45	2		2	KIFC3	16	57795067	Missense_Mutation	SNP	G	C3N-02003_TP	27815600	57795067	32543278	256	28636											
ZDHHC1	0	.	GRCh38	chr16	67400961	67400961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acccacacacactcacacatCcacgttgcacaagttgcagt	13	7	5	16	1	1	0	1	0	0	0	2	0	2	0	2	0	2	4	2	0	1	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.424G>A	p.Asp142Asn	p.D142N	ENST00000348579	4/11	128	120	8	118	118	0	strelka-varscan-mutect	ZDHHC1,missense_variant,p.Asp142Asn,ENST00000348579,NM_013304.2;ZDHHC1,missense_variant,p.Asp11Asn,ENST00000565726,;ZDHHC1,non_coding_transcript_exon_variant,,ENST00000562122,;ZDHHC1,upstream_gene_variant,,ENST00000566075,;ZDHHC1,upstream_gene_variant,,ENST00000567311,;ZDHHC1,downstream_gene_variant,,ENST00000568650,;	T	ENST00000348579	Transcript	missense_variant	766/2047	424/1458	142/485	D/N	Gat/Aat		1		-1	ZDHHC1	HGNC	HGNC:17916	protein_coding	YES	CCDS10836.1	ENSP00000340299	Q8WTX9		UPI000013C37E	NM_013304.2	tolerated(0.14)		4/11		PROSITE_profiles:PS50216,hmmpanther:PTHR22883:SF8,hmmpanther:PTHR22883,Pfam_domain:PF01529																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	67400961	67400961	C	T	1	0	0	0	0	1	0	0	0	18175	869	30	3		3	ZDHHC1	16	67400961	Missense_Mutation	SNP	C	C3N-02003_TP	9605894	67400961	22937384	257	28637											
COG8	0	.	GRCh38	chr16	69339324	69339324	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccaagtcgcgcgtctgctGcagcagctgcgcccgctcct	4	7	13	17	5	1	0	0	0	1	0	3	0	2	0	3	1	5	5	3	1	1	0	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.229C>T	p.Gln77Ter	p.Q77*	ENST00000306875	1/6	394	358	36	337	337	0	strelka-varscan-mutect	COG8,stop_gained,p.Gln77Ter,ENST00000306875,NM_032382.4;COG8,stop_gained,p.Gln58Ter,ENST00000562595,;COG8,stop_gained,p.Gln77Ter,ENST00000562081,;COG8,stop_gained,p.Gln62Ter,ENST00000615447,;RP11-343C2.9,intron_variant,,ENST00000563634,;NIP7,upstream_gene_variant,,ENST00000254940,NM_016101.4;NIP7,upstream_gene_variant,,ENST00000254941,NM_001199434.1;NIP7,upstream_gene_variant,,ENST00000569637,;TMED6,downstream_gene_variant,,ENST00000288025,NM_144676.3;COG8,upstream_gene_variant,,ENST00000562949,;NIP7,upstream_gene_variant,,ENST00000562523,;COG8,upstream_gene_variant,,ENST00000567493,;NIP7,upstream_gene_variant,,ENST00000567202,;RP11-343C2.7,intron_variant,,ENST00000564737,;RP11-343C2.7,intron_variant,,ENST00000570293,;TMED6,downstream_gene_variant,,ENST00000568748,;NIP7,upstream_gene_variant,,ENST00000565034,;NIP7,upstream_gene_variant,,ENST00000562131,;NIP7,upstream_gene_variant,,ENST00000563364,;	A	ENST00000306875	Transcript	stop_gained	344/4247	229/1839	77/612	Q/*	Cag/Tag		1		-1	COG8	HGNC	HGNC:18623	protein_coding	YES	CCDS10876.1	ENSP00000305459	Q96MW5	A0A024R6Z6	UPI000013EBA1	NM_032382.4			1/6		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21311:SF0,hmmpanther:PTHR21311,Pfam_domain:PF04124,PIRSF_domain:PIRSF015415																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	87	69339324	69339324	G	A	1	0	0	0	0	0	1	0	0	3452	1328	46	3		3	COG8	16	69339324	Nonsense_Mutation	SNP	G	C3N-02003_TP	1938363	69339324	20999021	258	28638											
MTSS1L	0	.	GRCh38	chr16	70663750	70663750	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacgccggatggccaccAgcatgtcttcggccgggggg	5	5	15	16	4	1	0	0	0	1	0	2	1	1	1	6	6	1	1	6	6	0	1	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.2171T>C	p.Leu724Pro	p.L724P	ENST00000338779	15/15	124	112	12	99	99	0	strelka-varscan-mutect	MTSS1L,missense_variant,p.Leu724Pro,ENST00000338779,NM_138383.2;MTSS1L,missense_variant,p.Leu723Pro,ENST00000616026,;IL34,downstream_gene_variant,,ENST00000429149,NM_152456.2,NM_001172771.1;IL34,downstream_gene_variant,,ENST00000288098,NM_001172772.1;IL34,downstream_gene_variant,,ENST00000566361,;RP11-394B2.1,non_coding_transcript_exon_variant,,ENST00000623414,;	G	ENST00000338779	Transcript	missense_variant	2446/4992	2171/2244	724/747	L/P	cTg/cCg		1		-1	MTSS1L	HGNC	HGNC:25094	protein_coding	YES	CCDS32476.1	ENSP00000341171	Q765P7		UPI00001D627C	NM_138383.2	deleterious(0)		15/15		hmmpanther:PTHR15708																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	70663750	70663750	A	G	1	0	0	0	0	1	0	0	0	9960	188	7	5		5	MTSS1L	16	70663750	Missense_Mutation	SNP	A	C3N-02003_TP	1324426	70663750	19674595	259	28639											
CNTNAP4	0	.	GRCh38	chr16	76461992	76461992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcagtggcattctgtctCtttatctgctaaaaagaatc	10	14	9	8	0	3	1	0	0	3	1	5	1	3	1	0	2	1	3	0	2	5	4	rs774408296		C3N-02003_TP	C3N-02003_NB	C	C																c.1370C>T	p.Ser457Phe	p.S457F	ENST00000611870	9/24	178	162	16	167	167	0	strelka-varscan-mutect	CNTNAP4,missense_variant,p.Ser457Phe,ENST00000307431,;CNTNAP4,missense_variant,p.Ser457Phe,ENST00000611870,NM_033401.3;CNTNAP4,missense_variant,p.Ser409Phe,ENST00000377504,;CNTNAP4,missense_variant,p.Ser460Phe,ENST00000476707,;CNTNAP4,missense_variant,p.Ser409Phe,ENST00000622250,;CNTNAP4,missense_variant,p.Ser384Phe,ENST00000478060,NM_138994.3;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000471618,;	T	ENST00000611870	Transcript	missense_variant	1755/4867	1370/3927	457/1308	S/F	tCt/tTt	rs774408296	1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3	deleterious(0.02)		9/24		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		rs774408296	.												T	3	4	87	76461992	76461992	C	T	1	0	0	0	0	1	0	0	0	3431	913	32	3		3	CNTNAP4	16	76461992	Missense_Mutation	SNP	C	C3N-02003_TP	5798242	76461992	13876353	260	28640											
CMC2	0	.	GRCh38	chr16	80980812	80980812	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgaggtgggaggatcacTtgagtttgaggcttccgtga	7	11	17	6	1	1	4	1	4	0	0	2	6	2	6	1	5	0	3	1	5	0	3	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.278A>C	p.Lys93Thr	p.K93T	ENST00000570195	5/6	189	175	14	175	175	0	strelka-varscan-mutect	CMC2,missense_variant,p.Lys93Thr,ENST00000570195,;CMC2,missense_variant,p.Lys50Thr,ENST00000486645,;CMC2,missense_variant,p.Lys74Thr,ENST00000565925,;CMC2,missense_variant,p.Lys74Thr,ENST00000562713,;CMC2,missense_variant,p.Lys93Thr,ENST00000630396,;CMC2,intron_variant,,ENST00000219400,;CMC2,intron_variant,,ENST00000564249,;CMC2,intron_variant,,ENST00000565650,NM_020188.3;CMC2,intron_variant,,ENST00000565914,;CMC2,intron_variant,,ENST00000564174,;CMC2,intron_variant,,ENST00000565108,;CMC2,non_coding_transcript_exon_variant,,ENST00000562828,;CMC2,intron_variant,,ENST00000566231,;CMC2,intron_variant,,ENST00000569187,;CMC2,intron_variant,,ENST00000566918,;RP11-303E16.9,downstream_gene_variant,,ENST00000623577,;CMC2,downstream_gene_variant,,ENST00000565514,;CMC2,missense_variant,p.Lys74Thr,ENST00000565613,;CMC2,3_prime_UTR_variant,,ENST00000567593,;CMC2,non_coding_transcript_exon_variant,,ENST00000569666,;CMC2,intron_variant,,ENST00000563779,;CMC2,intron_variant,,ENST00000568228,;CMC2,intron_variant,,ENST00000570086,;CMC2,intron_variant,,ENST00000561614,;CMC2,intron_variant,,ENST00000566047,;	G	ENST00000570195	Transcript	missense_variant	451/871	278/282	93/93	K/T	aAg/aCg		1		-1	CMC2	HGNC	HGNC:24447	protein_coding			ENSP00000457106		H3BTB6	UPI0000409DDE		deleterious_low_confidence(0.01)		5/6																			MODERATE		SNV	3			1										PASS		.	.												G	3	3	87	80980812	80980812	T	G	1	0	0	0	0	1	0	0	0	3351	1623	56	5		5	CMC2	16	80980812	Missense_Mutation	SNP	T	C3N-02003_TP	4518820	80980812	9357533	261	28641											
OR1A2	0	.	GRCh38	chr17	3198045	3198045	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcaaccaggaagtagccaAtttctactgtgacattatgc	12	11	9	9	0	1	1	0	1	1	0	1	2	1	2	2	2	4	2	2	2	6	4	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.527A>C	p.Asn176Thr	p.N176T	ENST00000381951	1/1	61	53	8	55	55	0	strelka-varscan-mutect	OR1A2,missense_variant,p.Asn176Thr,ENST00000381951,NM_012352.2;	C	ENST00000381951	Transcript	missense_variant	527/930	527/930	176/309	N/T	aAt/aCt		1		1	OR1A2	HGNC	HGNC:8180	protein_coding	YES	CCDS11021.1	ENSP00000371377	Q9Y585	A0A126GVH4	UPI0000041E56	NM_012352.2	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF319,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs1437387251	.												C	3	2	87	3198045	3198045	A	C	1	0	0	0	0	1	0	0	0	11028	101	4	5		5	OR1A2	17	3198045	Missense_Mutation	SNP	A	C3N-02003_TP		3198045	80059396	262	28642											
TP53	0	.	GRCh38	chr17	7674263	7674263	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgttacacatgtagttgtAgtggatggtggtacagtcag	10	13	13	5	0	1	0	1	0	0	0	1	1	1	1	0	3	2	5	0	3	4	5	rs864622237		C3N-02003_TP	C3N-02003_NB	A	A																c.700T>C	p.Tyr234His	p.Y234H	ENST00000269305	7/11	362	284	78	312	312	0	strelka-varscan-mutect	TP53,missense_variant,p.Tyr234His,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Tyr234His,ENST00000420246,;TP53,missense_variant,p.Tyr195His,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Tyr195His,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Tyr234His,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Tyr195His,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Tyr234His,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Tyr195His,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Tyr234His,ENST00000445888,;TP53,missense_variant,p.Tyr195His,ENST00000619485,;TP53,missense_variant,p.Tyr102His,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Tyr75His,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Tyr102His,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Tyr75His,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Tyr102His,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Tyr75His,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Tyr234His,ENST00000359597,;TP53,missense_variant,p.Tyr223His,ENST00000615910,;TP53,missense_variant,p.Tyr234His,ENST00000413465,;TP53,missense_variant,p.Tyr102His,ENST00000509690,;TP53,missense_variant,p.Tyr141His,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,missense_variant,p.Tyr195His,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	G	ENST00000269305	Transcript	missense_variant	890/2579	700/1182	234/393	Y/H	Tac/Cac	rs864622237,TP53_g.13337T>G,TP53_g.13337T>C,TP53_g.13337T>A,COSM11152,COSM146342,COSM146343,COSM146344,COSM220767,COSM220768,COSM220769,COSM238604,COSM238605,COSM238606,COSM2744649,COSM3362381,COSM43768,COSM43956,COSM4782297,COSM4782298	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0.01)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										uncertain_significance	0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs864622237	.												G	3	3	87	7674263	7674263	A	G	1	0	0	0	0	1	0	0	0	16859	420	15	5		5	TP53	17	7674263	Missense_Mutation	SNP	A	C3N-02003_TP	4476218	7674263	75583178	263	28643											
PFAS	0	.	GRCh38	chr17	8266348	8266348	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatgtgcctgtccccagggTtgatggtaaggaacctgggg	7	9	17	8	0	0	1	0	1	0	0	1	3	1	3	4	6	2	2	4	6	2	2	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.2816T>C	p.Val939Ala	p.V939A	ENST00000314666	22/28	168	153	15	163	163	0	strelka-mutect	PFAS,missense_variant,p.Val939Ala,ENST00000314666,NM_012393.2;PFAS,missense_variant,p.Val43Ala,ENST00000546020,;PFAS,downstream_gene_variant,,ENST00000583059,;PFAS,downstream_gene_variant,,ENST00000585319,;PFAS,missense_variant,p.Val54Ala,ENST00000578979,;PFAS,3_prime_UTR_variant,,ENST00000580356,;PFAS,non_coding_transcript_exon_variant,,ENST00000580251,;PFAS,downstream_gene_variant,,ENST00000581288,;	C	ENST00000314666	Transcript	missense_variant	2949/5371	2816/4017	939/1338	V/A	gTt/gCt		1		1	PFAS	HGNC	HGNC:8863	protein_coding	YES	CCDS11136.1	ENSP00000313490	O15067		UPI00001A95E5	NM_012393.2	tolerated(1)		22/28		HAMAP:MF_00419,hmmpanther:PTHR10099,hmmpanther:PTHR10099:SF1,TIGRFAM_domain:TIGR01735,Pfam_domain:PF02769,Superfamily_domains:SSF56042																	MODERATE	1	SNV	1			1										PASS		rs1415158735	.												C	3	2	87	8266348	8266348	T	C	1	0	0	0	0	1	0	0	0	11844	1739	60	5		5	PFAS	17	8266348	Missense_Mutation	SNP	T	C3N-02003_TP	592085	8266348	74991093	264	28644											
MYH1	0	.	GRCh38	chr17	10501817	10501817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cattttctatatccattgtgGattcttgagccaattttagg	9	18	7	7	0	2	1	0	1	2	0	3	2	3	2	2	2	1	0	2	2	4	9			C3N-02003_TP	C3N-02003_NB	G	G																c.3206C>T	p.Ser1069Phe	p.S1069F	ENST00000226207	25/40	128	115	13	229	229	0	strelka-varscan-mutect	MYH1,missense_variant,p.Ser1069Phe,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	A	ENST00000226207	Transcript	missense_variant	3301/6024	3206/5820	1069/1939	S/F	tCc/tTc	COSM227621	1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3	deleterious(0)		25/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF454,Superfamily_domains:SSF90257											1						MODERATE		SNV	5		1	1										PASS		.	.												A	3	1	87	10501817	10501817	G	A	1	0	0	0	0	1	0	0	0	10029	1174	41	3		3	MYH1	17	10501817	Missense_Mutation	SNP	G	C3N-02003_TP	2235469	10501817	72755624	265	28645											
KSR1	0	.	GRCh38	chr17	27605459	27605459	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagccagaggctggcaagtCagaggcagaagacgatgagg	13	3	18	7	1	1	5	1	1	0	4	1	7	1	6	1	5	1	3	1	5	2	0	rs774788692		C3N-02003_TP	C3N-02003_NB	C	C																c.1295C>G	p.Ser432Ter	p.S432*	ENST00000398988	16/22	424	396	28	273	272	1	strelka-varscan-mutect	KSR1,stop_gained,p.Ser432Ter,ENST00000398988,NM_014238.1;KSR1,stop_gained,p.Ser492Ter,ENST00000268763,;KSR1,stop_gained,p.Ser432Ter,ENST00000509603,;KSR1,stop_gained,p.Ser282Ter,ENST00000398982,;KSR1,upstream_gene_variant,,ENST00000582410,;KSR1,upstream_gene_variant,,ENST00000580430,;KSR1,downstream_gene_variant,,ENST00000581975,;KSR1,downstream_gene_variant,,ENST00000579961,;KSR1,non_coding_transcript_exon_variant,,ENST00000583525,;	G	ENST00000398988	Transcript	stop_gained	1740/7237	1295/2289	432/762	S/*	tCa/tGa	rs774788692	1		1	KSR1	HGNC	HGNC:6465	protein_coding	YES	CCDS58532.1	ENSP00000381958	Q8IVT5		UPI00005B2F0C	NM_014238.1			16/22		Low_complexity_(Seg):seg,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF413																	HIGH	1	SNV	5			1										PASS		rs774788692	.												G	4	3	87	27605459	27605459	C	G	1	0	0	0	0	0	1	0	0	8480	838	29	4		4	KSR1	17	27605459	Nonsense_Mutation	SNP	C	C3N-02003_TP	17103642	27605459	55651982	266	28646											
EFCAB5	0	.	GRCh38	chr17	30053398	30053398	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcatgctagcaaaacccaaAgtaaattattagaaagtcca	19	9	5	8	0	1	1	1	0	0	1	2	1	2	1	2	0	3	3	2	0	9	4	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.1444A>G	p.Ser482Gly	p.S482G	ENST00000394835	10/23	157	142	15	190	190	0	strelka-varscan-mutect	EFCAB5,missense_variant,p.Ser482Gly,ENST00000394835,NM_198529.3;EFCAB5,missense_variant,p.Ser288Gly,ENST00000419434,;EFCAB5,missense_variant,p.Ser426Gly,ENST00000536908,NM_001145053.1;EFCAB5,missense_variant,p.Ser281Gly,ENST00000588978,;EFCAB5,downstream_gene_variant,,ENST00000584826,;EFCAB5,missense_variant,p.Ser482Gly,ENST00000440741,;EFCAB5,3_prime_UTR_variant,,ENST00000423598,;EFCAB5,upstream_gene_variant,,ENST00000581617,;	G	ENST00000394835	Transcript	missense_variant	1636/5132	1444/4512	482/1503	S/G	Agt/Ggt		1		1	EFCAB5	HGNC	HGNC:24801	protein_coding	YES	CCDS11254.2	ENSP00000378312	A4FU69		UPI0000E59EF5	NM_198529.3	tolerated(0.27)		10/23		hmmpanther:PTHR31938,hmmpanther:PTHR31938:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	30053398	30053398	A	G	1	0	0	0	0	1	0	0	0	4772	72	3	5		5	EFCAB5	17	30053398	Missense_Mutation	SNP	A	C3N-02003_TP	2447939	30053398	53204043	267	28647											
CCL15	0	.	GRCh38	chr17	35997825	35997825	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaactcccggaccactgggtTtggcacagacttgccgcccc	7	7	11	16	2	0	1	0	0	0	1	1	3	1	2	5	3	2	2	5	3	1	2	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.284A>C	p.Lys95Thr	p.K95T	ENST00000617897	4/4	357	303	54	259	258	1	strelka-varscan-mutect	CCL15,missense_variant,p.Lys95Thr,ENST00000617897,NM_032965.5;CCL15,missense_variant,p.Lys43Thr,ENST00000614368,;RP11-104J23.1,upstream_gene_variant,,ENST00000619334,;CCL15-CCL14,missense_variant,p.Lys95Thr,ENST00000616694,;CCL15-CCL14,missense_variant,p.Lys95Thr,ENST00000610751,;	G	ENST00000617897	Transcript	missense_variant	830/1073	284/342	95/113	K/T	aAa/aCa		1		-1	CCL15	HGNC	HGNC:10613	protein_coding	YES	CCDS11304.1	ENSP00000484078	Q16663		UPI0000030A51	NM_032965.5	deleterious(0.02)		4/4		hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF76,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	35997825	35997825	T	G	1	0	0	0	0	1	0	0	0	2584	1841	64	5		5	CCL15	17	35997825	Missense_Mutation	SNP	T	C3N-02003_TP	5944427	35997825	47259616	268	28648											
ACACA	0	.	GRCh38	chr17	37330233	37330233	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaatcagagagtgtatctGagccaacagaagcaggtgac	15	6	11	9	0	2	4	1	2	1	2	2	5	2	4	2	1	3	2	2	1	4	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.278C>G	p.Ser93Ter	p.S93*	ENST00000616317	3/56	335	312	23	248	248	0	strelka-varscan-mutect	ACACA,stop_gained,p.Ser93Ter,ENST00000616317,NM_198834.2;ACACA,stop_gained,p.Ser56Ter,ENST00000614428,NM_198836.2,NM_198839.2;ACACA,stop_gained,p.Ser56Ter,ENST00000616352,;ACACA,stop_gained,p.Ser56Ter,ENST00000614438,;ACACA,5_prime_UTR_variant,,ENST00000614789,;ACACA,5_prime_UTR_variant,,ENST00000621960,;ACACA,stop_gained,p.Ser93Ter,ENST00000615229,;ACACA,stop_gained,p.Ser93Ter,ENST00000617548,;ACACA,stop_gained,p.Ser56Ter,ENST00000612007,;ACACA,non_coding_transcript_exon_variant,,ENST00000613146,;	C	ENST00000616317	Transcript	stop_gained	759/9961	278/7152	93/2383	S/*	tCa/tGa		1		-1	ACACA	HGNC	HGNC:84	protein_coding	YES	CCDS42302.1	ENSP00000483300	Q13085		UPI00002263AC	NM_198834.2			3/56																			HIGH	1	SNV	1			1										PASS		.	.												C	4	2	87	37330233	37330233	G	C	1	0	0	0	0	0	1	0	0	149	1294	45	4		4	ACACA	17	37330233	Nonsense_Mutation	SNP	G	C3N-02003_TP	1332408	37330233	45927208	269	28649											
STARD3	0	.	GRCh38	chr17	39660472	39660472	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctcgtgtaccaggaggtGatcctgcagcccgagaggat	9	7	15	10	2	0	2	0	1	0	1	2	6	1	4	3	3	4	3	3	3	1	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.900G>C	p.=	p.V300V	ENST00000336308	11/15	364	343	21	256	254	2	strelka-varscan-mutect	STARD3,synonymous_variant,p.=,ENST00000336308,NM_006804.3;STARD3,synonymous_variant,p.=,ENST00000580611,;STARD3,synonymous_variant,p.=,ENST00000394250,NM_001165938.1;STARD3,synonymous_variant,p.=,ENST00000544210,NM_001165937.1;TCAP,upstream_gene_variant,,ENST00000309889,NM_003673.3;STARD3,downstream_gene_variant,,ENST00000443521,;STARD3,downstream_gene_variant,,ENST00000581894,;TCAP,upstream_gene_variant,,ENST00000578283,;STARD3,downstream_gene_variant,,ENST00000583419,;STARD3,downstream_gene_variant,,ENST00000577248,;STARD3,downstream_gene_variant,,ENST00000579479,;STARD3,downstream_gene_variant,,ENST00000580331,;STARD3,downstream_gene_variant,,ENST00000583718,;STARD3,non_coding_transcript_exon_variant,,ENST00000583639,;STARD3,downstream_gene_variant,,ENST00000578232,;STARD3,downstream_gene_variant,,ENST00000582874,;STARD3,downstream_gene_variant,,ENST00000460894,;STARD3,downstream_gene_variant,,ENST00000585214,;STARD3,downstream_gene_variant,,ENST00000578254,;STARD3,3_prime_UTR_variant,,ENST00000578577,;STARD3,3_prime_UTR_variant,,ENST00000583884,;STARD3,non_coding_transcript_exon_variant,,ENST00000481171,;STARD3,non_coding_transcript_exon_variant,,ENST00000584850,;STARD3,non_coding_transcript_exon_variant,,ENST00000488876,;STARD3,non_coding_transcript_exon_variant,,ENST00000471896,;STARD3,non_coding_transcript_exon_variant,,ENST00000585269,;STARD3,non_coding_transcript_exon_variant,,ENST00000578384,;STARD3,non_coding_transcript_exon_variant,,ENST00000578686,;STARD3,downstream_gene_variant,,ENST00000583582,;STARD3,downstream_gene_variant,,ENST00000484773,;STARD3,downstream_gene_variant,,ENST00000580551,;	C	ENST00000336308	Transcript	synonymous_variant	1118/2132	900/1338	300/445	V	gtG/gtC		1		1	STARD3	HGNC	HGNC:17579	protein_coding	YES	CCDS11341.1	ENSP00000337446	Q14849		UPI000013CE10	NM_006804.3			11/15		PROSITE_profiles:PS50848,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF51,Gene3D:3.30.530.20,Pfam_domain:PF01852,SMART_domains:SM00234,Superfamily_domains:SSF55961,Prints_domain:PR00978																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	87	39660472	39660472	G	C	1	0	0	0	0	0	0	0	1	15632	1277	45	4		4	STARD3	17	39660472	Silent	SNP	G	C3N-02003_TP	2330239	39660472	43596969	270	28650											
CNTD1	0	.	GRCh38	chr17	42809477	42809477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactccggggagacagcagtCtattcctccccacctggcag	8	7	10	16	1	1	1	0	0	1	1	4	2	4	1	5	3	1	2	5	3	1	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.935C>A	p.Ser312Tyr	p.S312Y	ENST00000588408	7/7	304	286	18	233	233	0	strelka-mutect	CNTD1,missense_variant,p.Ser312Tyr,ENST00000588408,NM_173478.2;CNTD1,missense_variant,p.Ser229Tyr,ENST00000588527,;CNTD1,3_prime_UTR_variant,,ENST00000586652,;BECN1,downstream_gene_variant,,ENST00000361523,NM_003766.3;BECN1,downstream_gene_variant,,ENST00000590099,NM_001313998.1;BECN1,downstream_gene_variant,,ENST00000438274,;BECN1,downstream_gene_variant,,ENST00000590764,;BECN1,downstream_gene_variant,,ENST00000588276,;BECN1,downstream_gene_variant,,ENST00000586589,;BECN1,downstream_gene_variant,,ENST00000590852,;CNTD1,downstream_gene_variant,,ENST00000585355,;BECN1,downstream_gene_variant,,ENST00000589663,;CNTD1,non_coding_transcript_exon_variant,,ENST00000315066,;BECN1,downstream_gene_variant,,ENST00000586754,;BECN1,downstream_gene_variant,,ENST00000617806,;BECN1,downstream_gene_variant,,ENST00000543382,;CNTD1,downstream_gene_variant,,ENST00000592166,;BECN1,downstream_gene_variant,,ENST00000589492,;BECN1,downstream_gene_variant,,ENST00000590185,;BECN1,downstream_gene_variant,,ENST00000587880,;	A	ENST00000588408	Transcript	missense_variant	1211/2369	935/993	312/330	S/Y	tCt/tAt		1		1	CNTD1	HGNC	HGNC:26847	protein_coding	YES	CCDS11440.1	ENSP00000465204	Q8N815		UPI000006EFD8	NM_173478.2	deleterious_low_confidence(0)		7/7																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	42809477	42809477	C	A	1	0	0	0	0	1	0	0	0	3417	913	32	2		2	CNTD1	17	42809477	Missense_Mutation	SNP	C	C3N-02003_TP	3149005	42809477	40447964	271	28651											
AOC3	0	.	GRCh38	chr17	42852677	42852677	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccctgcggcgacaccactCagatctctactcgcactact	8	8	6	19	3	2	1	1	0	1	1	4	2	2	1	3	1	3	1	3	1	2	2			C3N-02003_TP	C3N-02003_NB	C	C																c.1334C>G	p.Ser445Ter	p.S445*	ENST00000308423	1/4	383	358	25	277	277	0	strelka-varscan-mutect	AOC3,stop_gained,p.Ser445Ter,ENST00000308423,NM_003734.3;AOC3,stop_gained,p.Ser445Ter,ENST00000613571,NM_001277731.1;AOC2,downstream_gene_variant,,ENST00000253799,NM_009590.2;AOC2,downstream_gene_variant,,ENST00000452774,NM_001158.3;AOC3,upstream_gene_variant,,ENST00000591562,;AOC3,upstream_gene_variant,,ENST00000617500,NM_001277732.1;AOC3,upstream_gene_variant,,ENST00000592999,;AOC3,upstream_gene_variant,,ENST00000588033,;AOC3,upstream_gene_variant,,ENST00000587330,;	G	ENST00000308423	Transcript	stop_gained	1494/4026	1334/2292	445/763	S/*	tCa/tGa	COSM1521492	1		1	AOC3	HGNC	HGNC:550	protein_coding	YES	CCDS11444.1	ENSP00000312326	Q16853		UPI00000009FC	NM_003734.3			1/4		hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF23,Pfam_domain:PF01179,Gene3D:2.70.98.20,Superfamily_domains:SSF49998,Prints_domain:PR00766											1						HIGH	1	SNV	1		1	1										PASS		.	.												G	4	3	87	42852677	42852677	C	G	1	0	0	0	0	0	1	0	0	838	838	29	4		4	AOC3	17	42852677	Nonsense_Mutation	SNP	C	C3N-02003_TP	43200	42852677	40404764	272	28652											
MEIOC	0	.	GRCh38	chr17	44667100	44667100	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaatttcacatttccaaaaActacgccacatctgacagag	16	9	5	11	1	2	3	1	1	1	2	3	3	3	3	2	0	2	0	2	0	4	3	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.1189A>C	p.Thr397Pro	p.T397P	ENST00000409122	5/8	107	99	8	120	120	0	strelka-varscan-mutect	MEIOC,missense_variant,p.Thr397Pro,ENST00000409122,NM_001145080.2;MEIOC,missense_variant,p.Thr231Pro,ENST00000409464,;MEIOC,downstream_gene_variant,,ENST00000432494,;MEIOC,downstream_gene_variant,,ENST00000456912,;MEIOC,downstream_gene_variant,,ENST00000425535,;MEIOC,upstream_gene_variant,,ENST00000472403,;	C	ENST00000409122	Transcript	missense_variant	1331/4604	1189/2859	397/952	T/P	Act/Cct		1		1	MEIOC	HGNC	HGNC:26670	protein_coding	YES	CCDS45703.2	ENSP00000386452	A2RUB1		UPI0001881A86	NM_001145080.2	tolerated(0.09)		5/8		hmmpanther:PTHR33861,hmmpanther:PTHR33861:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	87	44667100	44667100	A	C	1	0	0	0	0	1	0	0	0	9410	43	2	5		5	MEIOC	17	44667100	Missense_Mutation	SNP	A	C3N-02003_TP	1814423	44667100	38590341	273	28653											
ZNF652	0	.	GRCh38	chr17	49298800	49298800	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaagcatgttcgagaagcgGaaccgctggccacacacatc	12	7	10	12	3	0	1	0	0	0	1	2	3	0	2	2	2	3	3	2	2	3	2	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1434C>T	p.=	p.F478F	ENST00000362063	6/6	439	415	24	340	340	0	strelka-varscan-mutect	ZNF652,synonymous_variant,p.=,ENST00000362063,NM_014897.2;ZNF652,synonymous_variant,p.=,ENST00000430262,NM_001145365.1;ZNF652,synonymous_variant,p.=,ENST00000508237,;	A	ENST00000362063	Transcript	synonymous_variant	1753/5988	1434/1821	478/606	F	ttC/ttT		1		-1	ZNF652	HGNC	HGNC:29147	protein_coding	YES	CCDS32677.1	ENSP00000354686	Q9Y2D9		UPI000006D93D	NM_014897.2			6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF151,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	49298800	49298800	G	A	1	0	0	0	0	0	0	0	1	18638	1165	41	3		3	ZNF652	17	49298800	Silent	SNP	G	C3N-02003_TP	4631700	49298800	33958641	274	28654											
MRPS23	0	.	GRCh38	chr17	57849380	57849380	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccacaggggcttctccttCagcaccccggcccgaaccag	9	5	9	18	2	2	0	1	0	1	0	3	1	2	0	6	3	3	2	6	3	2	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.75G>C	p.=	p.L25L	ENST00000313608	2/5	161	147	14	104	104	0	strelka-varscan-mutect	MRPS23,synonymous_variant,p.=,ENST00000313608,NM_016070.3;MRPS23,synonymous_variant,p.=,ENST00000578444,;MRPS23,5_prime_UTR_variant,,ENST00000579380,;MRPS23,non_coding_transcript_exon_variant,,ENST00000579768,;	G	ENST00000313608	Transcript	synonymous_variant	121/5621	75/573	25/190	L	ctG/ctC		1		-1	MRPS23	HGNC	HGNC:14509	protein_coding	YES	CCDS11598.1	ENSP00000320184	Q9Y3D9		UPI0000073570	NM_016070.3			2/5		Pfam_domain:PF10484,hmmpanther:PTHR15925																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	87	57849380	57849380	C	G	1	0	0	0	0	0	0	0	1	9811	813	29	4		4	MRPS23	17	57849380	Silent	SNP	C	C3N-02003_TP	8550580	57849380	25408061	275	28655											
MTMR4	0	.	GRCh38	chr17	58512414	58512414	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgacagagtccttgaatttGatatgcagccggtagttaga	12	12	11	6	1	0	5	0	3	0	2	1	5	1	5	2	1	2	3	2	1	4	5	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.186C>G	p.Ile62Met	p.I62M	ENST00000323456	4/19	241	220	21	175	175	0	strelka-varscan-mutect	MTMR4,missense_variant,p.Ile62Met,ENST00000323456,NM_004687.4;MTMR4,missense_variant,p.Ile62Met,ENST00000579925,;MTMR4,missense_variant,p.Ile76Met,ENST00000583656,;MTMR4,missense_variant,p.Ile66Met,ENST00000579921,;MTMR4,5_prime_UTR_variant,,ENST00000583243,;MTMR4,missense_variant,p.Ile76Met,ENST00000582390,;MTMR4,missense_variant,p.Ile62Met,ENST00000582663,;MTMR4,upstream_gene_variant,,ENST00000580983,;MTMR4,upstream_gene_variant,,ENST00000583966,;	C	ENST00000323456	Transcript	missense_variant	311/5839	186/3588	62/1195	I/M	atC/atG		1		-1	MTMR4	HGNC	HGNC:7452	protein_coding	YES	CCDS11608.1	ENSP00000325285	Q9NYA4		UPI00002010DE	NM_004687.4	deleterious(0)		4/19		Gene3D:2.30.29.30,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF64,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	58512414	58512414	G	C	1	0	0	0	0	1	0	0	0	9933	1280	45	4		4	MTMR4	17	58512414	Missense_Mutation	SNP	G	C3N-02003_TP	663034	58512414	24745027	276	28656											
KCNH6	0	.	GRCh38	chr17	63543595	63543595	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagccgggggtctccactCatccccccgacaggctcctg	5	6	12	18	2	2	0	1	0	1	0	5	1	4	0	6	4	1	2	6	4	0	0	rs188290086		C3N-02003_TP	C3N-02003_NB	C	C																c.2168C>G	p.Ser723Ter	p.S723*	ENST00000583023	10/14	195	183	12	139	139	0	strelka-varscan-mutect	KCNH6,stop_gained,p.Ser723Ter,ENST00000583023,NM_030779.3;KCNH6,stop_gained,p.Ser723Ter,ENST00000314672,NM_001278919.1,NM_001278920.1;KCNH6,stop_gained,p.Ser670Ter,ENST00000581784,NM_173092.2;KCNH6,stop_gained,p.Ser670Ter,ENST00000456941,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;	G	ENST00000583023	Transcript	stop_gained	2179/3821	2168/2985	723/994	S/*	tCa/tGa	rs188290086	1		1	KCNH6	HGNC	HGNC:18862	protein_coding	YES	CCDS11638.1	ENSP00000463533	Q9H252		UPI000012DCAB	NM_030779.3			10/14		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF468																	HIGH	1	SNV	1			1										PASS		rs188290086	.												G	4	3	87	63543595	63543595	C	G	1	0	0	0	0	0	1	0	0	7952	838	29	4		4	KCNH6	17	63543595	Nonsense_Mutation	SNP	C	C3N-02003_TP	5031181	63543595	19713846	277	28657											
ICAM2	0	.	GRCh38	chr17	64003949	64003949	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttgcagtgtcaggatgAcctgccttggaggctctgca	6	11	15	9	0	2	1	1	1	1	0	2	3	2	3	2	4	3	4	2	4	0	2	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.344T>C	p.Val115Ala	p.V115A	ENST00000412356	5/6	146	127	19	123	123	0	strelka-varscan-mutect	ICAM2,missense_variant,p.Val115Ala,ENST00000412356,NM_001099786.1;ICAM2,missense_variant,p.Val115Ala,ENST00000418105,NM_001099787.1;ICAM2,missense_variant,p.Val115Ala,ENST00000449662,NM_000873.3;ICAM2,missense_variant,p.Val115Ala,ENST00000579687,NM_001099788.1;ICAM2,missense_variant,p.Val115Ala,ENST00000579788,NM_001099789.1;ICAM2,missense_variant,p.Val14Ala,ENST00000578379,;ICAM2,missense_variant,p.Val91Ala,ENST00000578892,;ICAM2,missense_variant,p.Val115Ala,ENST00000578313,;ICAM2,missense_variant,p.Val115Ala,ENST00000584084,;ICAM2,missense_variant,p.Val115Ala,ENST00000583366,;PRR29,3_prime_UTR_variant,,ENST00000412177,NM_001164257.1;PRR29,downstream_gene_variant,,ENST00000425164,NM_001191029.1;PRR29,downstream_gene_variant,,ENST00000579184,NM_001191030.1;PRR29,downstream_gene_variant,,ENST00000582540,;PRR29,downstream_gene_variant,,ENST00000577953,NM_001191031.1;PRR29,downstream_gene_variant,,ENST00000583891,;PRR29,downstream_gene_variant,,ENST00000580752,;PRR29-AS1,upstream_gene_variant,,ENST00000580942,;ICAM2,non_coding_transcript_exon_variant,,ENST00000581417,;ICAM2,non_coding_transcript_exon_variant,,ENST00000584403,;ICAM2,synonymous_variant,p.=,ENST00000583684,;PRR29,non_coding_transcript_exon_variant,,ENST00000225760,;PRR29,downstream_gene_variant,,ENST00000582530,;PRR29,downstream_gene_variant,,ENST00000579222,;ICAM2,downstream_gene_variant,,ENST00000580011,;ICAM2,downstream_gene_variant,,ENST00000583186,;ICAM2,downstream_gene_variant,,ENST00000580389,;	G	ENST00000412356	Transcript	missense_variant	699/1334	344/828	115/275	V/A	gTc/gCc		1		-1	ICAM2	HGNC	HGNC:5345	protein_coding	YES	CCDS11657.1	ENSP00000415283	P13598	Q6FHE2	UPI000013C87E	NM_001099786.1	deleterious(0)		5/6		Gene3D:2.60.40.10,Prints_domain:PR01472,hmmpanther:PTHR13771,hmmpanther:PTHR13771:SF3,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	87	64003949	64003949	A	G	1	0	0	0	0	1	0	0	0	7380	275	10	5		5	ICAM2	17	64003949	Missense_Mutation	SNP	A	C3N-02003_TP	460354	64003949	19253492	278	28658											
NT5C	0	.	GRCh38	chr17	75130605	75130605	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccgattgtggcagcaggtGaacaagatgtgctcccagct	9	9	13	10	1	0	2	0	1	0	1	1	3	1	2	2	2	5	4	2	2	2	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.489C>T	p.=	p.F163F	ENST00000245552	5/5	272	253	19	221	220	1	strelka-varscan-mutect	NT5C,missense_variant,p.His162Tyr,ENST00000582170,;NT5C,missense_variant,p.Ser60Leu,ENST00000580423,;NT5C,synonymous_variant,p.=,ENST00000245552,NM_014595.2;NT5C,synonymous_variant,p.=,ENST00000582160,;NT5C,synonymous_variant,p.=,ENST00000578407,NM_001252377.1;NT5C,3_prime_UTR_variant,,ENST00000578337,;HN1,downstream_gene_variant,,ENST00000476258,NM_001002033.2,NM_001288609.1;ARMC7,downstream_gene_variant,,ENST00000245543,NM_024585.3;HN1,downstream_gene_variant,,ENST00000482348,NM_001288610.1;HN1,downstream_gene_variant,,ENST00000409753,NM_001288611.1,NM_016185.3;HN1,downstream_gene_variant,,ENST00000356033,NM_001002032.2;ARMC7,downstream_gene_variant,,ENST00000581078,NM_001304271.1;RP11-649A18.3,upstream_gene_variant,,ENST00000625094,;ARMC7,downstream_gene_variant,,ENST00000579096,;NT5C,downstream_gene_variant,,ENST00000579082,;NT5C,3_prime_UTR_variant,,ENST00000580758,;NT5C,3_prime_UTR_variant,,ENST00000582744,;NT5C,non_coding_transcript_exon_variant,,ENST00000583655,;NT5C,non_coding_transcript_exon_variant,,ENST00000577523,;NT5C,non_coding_transcript_exon_variant,,ENST00000579023,;NT5C,non_coding_transcript_exon_variant,,ENST00000578095,;NT5C,non_coding_transcript_exon_variant,,ENST00000584352,;HN1,downstream_gene_variant,,ENST00000304834,;	A	ENST00000245552	Transcript	synonymous_variant	577/954	489/606	163/201	F	ttC/ttT		1		-1	NT5C	HGNC	HGNC:17144	protein_coding	YES	CCDS11715.1	ENSP00000245552	Q8TCD5	V9HWF3	UPI000006D556	NM_014595.2			5/5		hmmpanther:PTHR16504,hmmpanther:PTHR16504:SF5,Gene3D:3.40.50.1000,Pfam_domain:PF06941,Superfamily_domains:SSF56784																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	75130605	75130605	G	A	1	0	0	0	0	0	0	0	1	10747	1290	45	3		3	NT5C	17	75130605	Silent	SNP	G	C3N-02003_TP	11126656	75130605	8126836	279	28659											
NUP85	0	.	GRCh38	chr17	75235641	75235641	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcacgaaatcttgctCgggcaattataagagaaggc	12	9	11	9	2	2	1	0	0	2	1	3	3	2	1	0	3	1	3	0	3	5	3	rs368572297		C3N-02003_TP	C3N-02003_NB	C	C																c.1933C>A	p.=	p.R645R	ENST00000245544	19/19	147	139	8	168	168	0	strelka-varscan-mutect	NUP85,synonymous_variant,p.=,ENST00000245544,NM_024844.4;NUP85,synonymous_variant,p.=,ENST00000579324,NM_001303276.1;NUP85,synonymous_variant,p.=,ENST00000540768,;NUP85,synonymous_variant,p.=,ENST00000579298,;NUP85,synonymous_variant,p.=,ENST00000579838,;NUP85,3_prime_UTR_variant,,ENST00000579900,;GGA3,downstream_gene_variant,,ENST00000537686,NM_138619.3;GGA3,downstream_gene_variant,,ENST00000538886,NM_014001.4;GGA3,downstream_gene_variant,,ENST00000582486,;GGA3,downstream_gene_variant,,ENST00000582717,NM_001172703.2,NM_001291641.1,NM_001291642.1;GGA3,downstream_gene_variant,,ENST00000578348,NM_001172704.2;NUP85,downstream_gene_variant,,ENST00000583070,;NUP85,downstream_gene_variant,,ENST00000579557,;GGA3,downstream_gene_variant,,ENST00000583282,;NUP85,3_prime_UTR_variant,,ENST00000581104,;NUP85,3_prime_UTR_variant,,ENST00000578987,;NUP85,3_prime_UTR_variant,,ENST00000584155,;GGA3,downstream_gene_variant,,ENST00000613421,;GGA3,downstream_gene_variant,,ENST00000621217,;GGA3,downstream_gene_variant,,ENST00000621870,;GGA3,downstream_gene_variant,,ENST00000614198,;NUP85,downstream_gene_variant,,ENST00000578830,;NUP85,downstream_gene_variant,,ENST00000577645,;GGA3,downstream_gene_variant,,ENST00000580646,;GGA3,downstream_gene_variant,,ENST00000584550,;NUP85,downstream_gene_variant,,ENST00000582681,;NUP85,downstream_gene_variant,,ENST00000580879,;GGA3,downstream_gene_variant,,ENST00000583667,;GGA3,downstream_gene_variant,,ENST00000578208,;GGA3,downstream_gene_variant,,ENST00000578773,;NUP85,downstream_gene_variant,,ENST00000578294,;	A	ENST00000245544	Transcript	synonymous_variant	2004/2121	1933/1971	645/656	R	Cgg/Agg	rs368572297	1		1	NUP85	HGNC	HGNC:8734	protein_coding	YES	CCDS32730.1	ENSP00000245544	Q9BW27		UPI00000735DC	NM_024844.4			19/19		hmmpanther:PTHR13373,hmmpanther:PTHR13373:SF21,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs368572297	.												A	2	1	87	75235641	75235641	C	A	1	0	0	0	0	0	0	0	1	10836	875	31	1		1	NUP85	17	75235641	Silent	SNP	C	C3N-02003_TP	105036	75235641	8021800	280	28660											
LLGL2	0	.	GRCh38	chr17	75563330	75563330	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctctcctcttcctccataGcaactggagaacatctggtg	8	11	7	15	0	3	1	0	0	3	1	6	2	5	1	4	2	3	1	4	2	3	2			C3N-02003_TP	C3N-02003_NB	G	G																c.694-1G>A		p.X232_splice	ENST00000392550		114	106	8	68	68	0	strelka-varscan-mutect	LLGL2,splice_acceptor_variant,,ENST00000392550,NM_001031803.1;LLGL2,splice_acceptor_variant,,ENST00000167462,NM_004524.2;LLGL2,splice_acceptor_variant,,ENST00000577200,;LLGL2,splice_acceptor_variant,,ENST00000578363,;LLGL2,splice_acceptor_variant,,ENST00000375227,NM_001015002.1;LLGL2,downstream_gene_variant,,ENST00000578536,;LLGL2,downstream_gene_variant,,ENST00000581713,;LLGL2,downstream_gene_variant,,ENST00000580578,;LLGL2,downstream_gene_variant,,ENST00000583658,;LLGL2,downstream_gene_variant,,ENST00000579392,;LLGL2,splice_acceptor_variant,,ENST00000545227,;LLGL2,splice_acceptor_variant,,ENST00000582860,;LLGL2,non_coding_transcript_exon_variant,,ENST00000580027,;LLGL2,upstream_gene_variant,,ENST00000577500,;LLGL2,upstream_gene_variant,,ENST00000578638,;	A	ENST00000392550	Transcript	splice_acceptor_variant	-/3509	694/3063	232/1020			COSM1386002,COSM1386003,COSM5157998	1		1	LLGL2	HGNC	HGNC:6629	protein_coding	YES	CCDS32733.1	ENSP00000376333	Q6P1M3		UPI00005905A8	NM_001031803.1				7/25												1,1,1						HIGH	1	SNV	1		1,1,1	1										PASS		.	.												A	5	1	87	75563330	75563330	G	A	1	0	0	0	0	0	0	1	0	8758	985	34	3		3	LLGL2	17	75563330	Splice_Site	SNP	G	C3N-02003_TP	327689	75563330	7694111	281	28661											
EXOC7	0	.	GRCh38	chr17	76103418	76103418	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcggatgaaggacagagtCtcctcctcctgggggcaggc	7	8	14	12	1	2	2	0	1	2	1	6	4	4	4	3	5	0	1	3	5	1	0	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.69G>C	p.Glu23Asp	p.E23D	ENST00000335146	2/20	116	108	8	81	81	0	strelka-varscan-mutect	EXOC7,missense_variant,p.Glu23Asp,ENST00000589210,NM_001013839.3;EXOC7,missense_variant,p.Glu23Asp,ENST00000332065,NM_015219.4;EXOC7,missense_variant,p.Glu23Asp,ENST00000335146,NM_001145297.3;EXOC7,missense_variant,p.Glu23Asp,ENST00000405575,;EXOC7,missense_variant,p.Glu23Asp,ENST00000634349,NM_001145299.3;EXOC7,missense_variant,p.Glu23Asp,ENST00000411744,NM_001145298.3;EXOC7,missense_variant,p.Glu42Asp,ENST00000589507,;EXOC7,missense_variant,p.Glu23Asp,ENST00000406660,NM_001282314.1;EXOC7,5_prime_UTR_variant,,ENST00000607838,;EXOC7,5_prime_UTR_variant,,ENST00000467929,NM_001282313.1;EXOC7,upstream_gene_variant,,ENST00000357231,;EXOC7,upstream_gene_variant,,ENST00000442951,;EXOC7,upstream_gene_variant,,ENST00000420116,;EXOC7,non_coding_transcript_exon_variant,,ENST00000405068,;	G	ENST00000335146	Transcript	missense_variant	123/3519	69/2208	23/735	E/D	gaG/gaC		1		-1	EXOC7	HGNC	HGNC:23214	protein_coding	YES	CCDS45782.1	ENSP00000334100	Q9UPT5		UPI00001AFC78	NM_001145297.3	tolerated(0.15)		2/20		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12542,hmmpanther:PTHR12542:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	76103418	76103418	C	G	1	0	0	0	0	1	0	0	0	5178	912	32	4		4	EXOC7	17	76103418	Missense_Mutation	SNP	C	C3N-02003_TP	540088	76103418	7154023	282	28662											
DNAH17	0	.	GRCh38	chr17	78485577	78485577	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggctgaggtcgtgtagaAgttgaagggcacagcctgca	10	8	15	8	1	0	3	0	2	0	1	1	3	0	3	1	3	2	5	1	3	3	2	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.7456T>G	p.Phe2486Val	p.F2486V	ENST00000389840	47/81	278	238	40	175	175	0	strelka-varscan-mutect	DNAH17,missense_variant,p.Phe2486Val,ENST00000389840,NM_173628.3;DNAH17,missense_variant,p.Phe2481Val,ENST00000585328,;DNAH17-AS1,intron_variant,,ENST00000591373,;DNAH17-AS1,intron_variant,,ENST00000588565,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;	C	ENST00000389840	Transcript	missense_variant	7581/13723	7456/13389	2486/4462	F/V	Ttc/Gtc		1		-1	DNAH17	HGNC	HGNC:2946	protein_coding	YES		ENSP00000374490	Q9UFH2		UPI0001B25601	NM_173628.3	deleterious(0)		47/81		Gene3D:3.40.50.300,Pfam_domain:PF12775,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF284,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	87	78485577	78485577	A	C	1	0	0	0	0	1	0	0	0	4416	72	3	5		5	DNAH17	17	78485577	Missense_Mutation	SNP	A	C3N-02003_TP	2382159	78485577	4771864	283	28663											
TIMP2	0	.	GRCh38	chr17	78871001	78871001	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatccttctcaggccctttGaacatctggaaagacaagga	13	10	8	10	0	2	2	1	1	2	1	4	4	3	4	2	3	1	0	2	3	4	3	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.237C>T	p.=	p.F79F	ENST00000262768	3/5	90	83	7	50	50	0	strelka-mutect	TIMP2,synonymous_variant,p.=,ENST00000262768,NM_003255.4;TIMP2,synonymous_variant,p.=,ENST00000536189,;TIMP2,synonymous_variant,p.=,ENST00000586057,;TIMP2,synonymous_variant,p.=,ENST00000585421,;CEP295NL,synonymous_variant,p.=,ENST00000586713,;TIMP2,synonymous_variant,p.=,ENST00000592761,;	A	ENST00000262768	Transcript	synonymous_variant	536/3652	237/663	79/220	F	ttC/ttT		1		-1	TIMP2	HGNC	HGNC:11821	protein_coding	YES	CCDS11758.1	ENSP00000262768	P16035	A0A140VK57	UPI0000136F99	NM_003255.4			3/5		PROSITE_profiles:PS50189,hmmpanther:PTHR11844:SF24,hmmpanther:PTHR11844,Gene3D:2.40.50.120,Pfam_domain:PF00965,SMART_domains:SM00206,Superfamily_domains:SSF50242																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	78871001	78871001	G	A	1	0	0	0	0	0	0	0	1	16359	1304	45	3		3	TIMP2	17	78871001	Silent	SNP	G	C3N-02003_TP	385424	78871001	4386440	284	28664											
SLC26A11	0	.	GRCh38	chr17	80221740	80221740	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccggcctctcagttggcctCactgccattccccaggcgct	4	9	10	18	2	2	0	2	0	1	0	4	0	3	0	6	3	1	2	6	3	0	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.180C>T	p.=	p.L60L	ENST00000361193	3/18	277	262	15	197	197	0	strelka-varscan-mutect	SLC26A11,synonymous_variant,p.=,ENST00000361193,NM_173626.3,NM_001166347.1;SLC26A11,synonymous_variant,p.=,ENST00000411502,;SLC26A11,synonymous_variant,p.=,ENST00000546047,NM_001166348.1,NM_001166349.1;SLC26A11,synonymous_variant,p.=,ENST00000572725,;SLC26A11,synonymous_variant,p.=,ENST00000571176,;SLC26A11,synonymous_variant,p.=,ENST00000577155,;SLC26A11,synonymous_variant,p.=,ENST00000574967,;SLC26A11,synonymous_variant,p.=,ENST00000576126,;SLC26A11,intron_variant,,ENST00000573809,;SGSH,upstream_gene_variant,,ENST00000326317,NM_000199.3;SGSH,upstream_gene_variant,,ENST00000570923,;SGSH,upstream_gene_variant,,ENST00000570427,;SGSH,upstream_gene_variant,,ENST00000576707,;SLC26A11,non_coding_transcript_exon_variant,,ENST00000571602,;SLC26A11,non_coding_transcript_exon_variant,,ENST00000571564,;SLC26A11,non_coding_transcript_exon_variant,,ENST00000572226,;SGSH,upstream_gene_variant,,ENST00000572208,;SLC26A11,non_coding_transcript_exon_variant,,ENST00000572652,;SLC26A11,intron_variant,,ENST00000571888,;SGSH,upstream_gene_variant,,ENST00000575282,;SGSH,upstream_gene_variant,,ENST00000573150,;SGSH,upstream_gene_variant,,ENST00000574505,;SGSH,upstream_gene_variant,,ENST00000571075,;SGSH,upstream_gene_variant,,ENST00000576941,;SGSH,upstream_gene_variant,,ENST00000571675,;SLC26A11,upstream_gene_variant,,ENST00000571072,;SGSH,upstream_gene_variant,,ENST00000575188,;SGSH,upstream_gene_variant,,ENST00000571051,;	T	ENST00000361193	Transcript	synonymous_variant	460/2885	180/1821	60/606	L	ctC/ctT		1		1	SLC26A11	HGNC	HGNC:14471	protein_coding	YES	CCDS11771.2	ENSP00000355384	Q86WA9		UPI000003E7B7	NM_173626.3,NM_001166347.1			3/18		Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF89,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	87	80221740	80221740	C	T	1	0	0	0	0	0	0	0	1	14786	813	29	3		3	SLC26A11	17	80221740	Silent	SNP	C	C3N-02003_TP	1350739	80221740	3035701	285	28665											
ANAPC11	0	.	GRCh38	chr17	81899433	81899433	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacccctcctgcccttgatCaagagaccagttcactactc	9	9	5	18	0	2	2	2	1	0	1	4	3	3	2	6	0	2	1	6	0	2	3	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.301C>G	p.Gln101Glu	p.Q101E	ENST00000357385	3/4	480	455	25	333	333	0	strelka-varscan-mutect	ANAPC11,missense_variant,p.Gln101Glu,ENST00000357385,NM_001002244.2;ANAPC11,intron_variant,,ENST00000575195,;ANAPC11,intron_variant,,ENST00000612413,NM_001289418.1,NM_001289419.1;ANAPC11,intron_variant,,ENST00000344877,NM_016476.11,NM_001002248.2,NM_001002246.2;ANAPC11,intron_variant,,ENST00000574924,;ANAPC11,intron_variant,,ENST00000392376,NM_001002249.2;ANAPC11,intron_variant,,ENST00000572851,NM_001289415.1;ANAPC11,intron_variant,,ENST00000577747,;ANAPC11,intron_variant,,ENST00000571024,NM_001002247.2,NM_001002245.2;ANAPC11,intron_variant,,ENST00000571874,;ANAPC11,intron_variant,,ENST00000577425,;ANAPC11,intron_variant,,ENST00000578550,NM_001289417.1;ANAPC11,intron_variant,,ENST00000571570,NM_001289414.1;ANAPC11,intron_variant,,ENST00000572639,;ANAPC11,intron_variant,,ENST00000579978,;ANAPC11,intron_variant,,ENST00000579133,;ANAPC11,intron_variant,,ENST00000583839,NM_001289416.1;ANAPC11,intron_variant,,ENST00000578544,;ANAPC11,intron_variant,,ENST00000584197,;ANAPC11,intron_variant,,ENST00000585259,;PCYT2,downstream_gene_variant,,ENST00000538936,NM_002861.4;NPB,upstream_gene_variant,,ENST00000573081,;PCYT2,downstream_gene_variant,,ENST00000331285,NM_001282203.1;PCYT2,downstream_gene_variant,,ENST00000570391,NM_001282204.1;PCYT2,downstream_gene_variant,,ENST00000538721,NM_001184917.2,NM_001256434.2;PCYT2,downstream_gene_variant,,ENST00000571105,;NPB,upstream_gene_variant,,ENST00000333383,NM_148896.3;ANAPC11,downstream_gene_variant,,ENST00000584314,;ANAPC11,downstream_gene_variant,,ENST00000582222,;ANAPC11,non_coding_transcript_exon_variant,,ENST00000573956,;	G	ENST00000357385	Transcript	missense_variant	437/881	301/591	101/196	Q/E	Caa/Gaa		1		1	ANAPC11	HGNC	HGNC:14452	protein_coding	YES	CCDS32769.1	ENSP00000349957	Q9NYG5	A0A024R8S1	UPI0000374311	NM_001002244.2	deleterious_low_confidence(0)		3/4																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	81899433	81899433	C	G	1	0	0	0	0	1	0	0	0	697	827	29	4		4	ANAPC11	17	81899433	Missense_Mutation	SNP	C	C3N-02003_TP	1677693	81899433	1358008	286	28666											
PIEZO2	0	.	GRCh38	chr18	10702052	10702052	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtcatagagaacataaccTtccttcttttccactcctat	11	14	4	12	0	2	1	1	0	1	1	5	2	5	1	4	1	2	0	4	1	4	7	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.6039A>C	p.Glu2013Asp	p.E2013D	ENST00000503781	39/52	111	100	11	173	173	0	strelka-mutect	PIEZO2,missense_variant,p.Glu1964Asp,ENST00000383408,;PIEZO2,missense_variant,p.Glu2013Asp,ENST00000302079,;PIEZO2,missense_variant,p.Glu2038Asp,ENST00000580640,;PIEZO2,missense_variant,p.Glu2013Asp,ENST00000503781,NM_022068.3;PIEZO2,upstream_gene_variant,,ENST00000538948,;RP11-856M7.2,upstream_gene_variant,,ENST00000584167,;PIEZO2,3_prime_UTR_variant,,ENST00000582913,;	G	ENST00000503781	Transcript	missense_variant	6039/8259	6039/8259	2013/2752	E/D	gaA/gaC		1		-1	PIEZO2	HGNC	HGNC:26270	protein_coding	YES	CCDS11850.2	ENSP00000421377	Q9H5I5		UPI0001B3CB29	NM_022068.3	tolerated(1)		39/52		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	10702052	10702052	T	G	1	0	0	0	0	1	0	0	0	11975	1606	56	5		5	PIEZO2	18	10702052	Missense_Mutation	SNP	T	C3N-02003_TP		10702052	69671233	287	28667											
CEP192	0	.	GRCh38	chr18	13071178	13071178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgtccaacaaacaatttCtggcttggggaggagtccct	9	13	10	9	0	1	0	0	0	1	0	3	2	3	2	2	4	2	1	2	4	3	4	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.5314C>G	p.Leu1772Val	p.L1772V	ENST00000506447	28/45	92	87	5	116	116	0	strelka-mutect	CEP192,missense_variant,p.Leu1772Val,ENST00000506447,NM_032142.3;CEP192,missense_variant,p.Leu1297Val,ENST00000325971,;CEP192,missense_variant,p.Leu1311Val,ENST00000511820,;CEP192,missense_variant,p.Leu195Val,ENST00000430049,;CEP192,intron_variant,,ENST00000507254,;CEP192,upstream_gene_variant,,ENST00000540847,;CEP192,missense_variant,p.Leu1372Val,ENST00000510237,;CEP192,missense_variant,p.Leu320Val,ENST00000589993,;CEP192,3_prime_UTR_variant,,ENST00000513432,;	G	ENST00000506447	Transcript	missense_variant	5394/7960	5314/7614	1772/2537	L/V	Ctg/Gtg		1		1	CEP192	HGNC	HGNC:25515	protein_coding	YES	CCDS32792.2	ENSP00000427550	Q8TEP8		UPI0001B09235	NM_032142.3	tolerated(0.17)		28/45		hmmpanther:PTHR16029,hmmpanther:PTHR16029:SF10																	MODERATE	1	SNV	5			1										PASS		rs1251831457	.												G	3	3	87	13071178	13071178	C	G	1	0	0	0	0	1	0	0	0	2967	912	32	4		4	CEP192	18	13071178	Missense_Mutation	SNP	C	C3N-02003_TP	2369126	13071178	67302107	288	28668											
EPG5	0	.	GRCh38	chr18	45952618	45952618	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtagcgatgatagctgaaaActttcacttgatctgcacag	12	11	10	8	1	2	3	1	3	1	0	2	4	2	3	0	1	4	3	0	1	4	4	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.1034T>G	p.Val345Gly	p.V345G	ENST00000282041	3/44	122	111	11	135	135	0	strelka-varscan-mutect	EPG5,missense_variant,p.Val345Gly,ENST00000282041,NM_020964.2;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;	C	ENST00000282041	Transcript	missense_variant	1069/12633	1034/7740	345/2579	V/G	gTt/gGt		1		-1	EPG5	HGNC	HGNC:29331	protein_coding	YES	CCDS11926.2	ENSP00000282041	Q9HCE0		UPI00004F6F8A	NM_020964.2	deleterious(0)		3/44		hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	87	45952618	45952618	A	C	1	0	0	0	0	1	0	0	0	5010	43	2	5		5	EPG5	18	45952618	Missense_Mutation	SNP	A	C3N-02003_TP	32881440	45952618	34420667	289	28669											
ARHGAP45	0	.	GRCh38	chr19	1080111	1080111	+	Missense_Mutation	SNP	A	A	G																															ttgagccccacgtctccgccAacgcctggtaccgccaccca																								novel		C3N-02003_TP	C3N-02003_NB	A	A																c.1744A>G	p.Asn582Asp	p.N582D	ENST00000539243	13/23	111	97	14	105	105	0	strelka-varscan-mutect	ARHGAP45,missense_variant,p.Asn566Asp,ENST00000313093,NM_012292.4;ARHGAP45,missense_variant,p.Asn593Asp,ENST00000590214,;ARHGAP45,missense_variant,p.Asn582Asp,ENST00000539243,NM_001258328.2;ARHGAP45,missense_variant,p.Asn570Asp,ENST00000586866,;ARHGAP45,missense_variant,p.Asn449Asp,ENST00000543365,NM_001282335.1;ARHGAP45,missense_variant,p.Asn201Asp,ENST00000590577,NM_001282334.1;ARHGAP45,upstream_gene_variant,,ENST00000590512,;ARHGAP45,3_prime_UTR_variant,,ENST00000587602,;ARHGAP45,intron_variant,,ENST00000591293,;ARHGAP45,upstream_gene_variant,,ENST00000592297,;ARHGAP45,upstream_gene_variant,,ENST00000591169,;ARHGAP45,upstream_gene_variant,,ENST00000586378,;ARHGAP45,upstream_gene_variant,,ENST00000586937,;	G	ENST00000539243	Transcript	missense_variant	1847/4184	1744/3459	582/1152	N/D	Aac/Gac		1		1	ARHGAP45	HGNC	HGNC:17102	protein_coding	YES	CCDS58637.1	ENSP00000439601	Q92619		UPI0001AE63E1	NM_001258328.2	tolerated(0.13)		13/23		hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF18																	MODERATE	1	SNV	2			1										PASS		rs931141320	.												G	3	3	87	1080111	1080111	A	G	1	0	0	0	0	1	0	0	0	1015	130	5	5		5	ARHGAP45	19	1080111	Missense_Mutation	SNP	A	C3N-02003_TP		1080111	57537505	290	28670	603	2									
ARHGAP45	0	.	GRCh38	chr19	1080112	1080112	+	Missense_Mutation	SNP	A	A	T																															tgagccccacgtctccgccaAcgcctggtaccgccacccag																								rs553375246		C3N-02003_TP	C3N-02003_NB	A	A																c.1745A>T	p.Asn582Ile	p.N582I	ENST00000539243	13/23	111	97	14	106	106	0	strelka-varscan-mutect	ARHGAP45,missense_variant,p.Asn566Ile,ENST00000313093,NM_012292.4;ARHGAP45,missense_variant,p.Asn593Ile,ENST00000590214,;ARHGAP45,missense_variant,p.Asn582Ile,ENST00000539243,NM_001258328.2;ARHGAP45,missense_variant,p.Asn570Ile,ENST00000586866,;ARHGAP45,missense_variant,p.Asn449Ile,ENST00000543365,NM_001282335.1;ARHGAP45,missense_variant,p.Asn201Ile,ENST00000590577,NM_001282334.1;ARHGAP45,upstream_gene_variant,,ENST00000590512,;ARHGAP45,3_prime_UTR_variant,,ENST00000587602,;ARHGAP45,intron_variant,,ENST00000591293,;ARHGAP45,upstream_gene_variant,,ENST00000592297,;ARHGAP45,upstream_gene_variant,,ENST00000591169,;ARHGAP45,upstream_gene_variant,,ENST00000586378,;ARHGAP45,upstream_gene_variant,,ENST00000586937,;	T	ENST00000539243	Transcript	missense_variant	1848/4184	1745/3459	582/1152	N/I	aAc/aTc	rs553375246	1		1	ARHGAP45	HGNC	HGNC:17102	protein_coding	YES	CCDS58637.1	ENSP00000439601	Q92619		UPI0001AE63E1	NM_001258328.2	tolerated(0.09)		13/23		hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF18																	MODERATE	1	SNV	2			1										PASS		rs553375246	.												T	3	4	87	1080112	1080112	A	T	1	0	0	0	0	1	0	0	0	1015	43	2	4		4	ARHGAP45	19	1080112	Missense_Mutation	SNP	A	C3N-02003_TP	1	1080112	57537504	291	28671	603	2									
AP3D1	0	.	GRCh38	chr19	2109159	2109159	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatgccatcgactttgatTgagctcatgctcaagtcccc	9	11	8	13	2	2	2	2	2	0	0	4	4	3	2	3	0	3	2	3	0	2	2	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.3399A>C	p.=	p.S1133S	ENST00000355272	30/32	107	95	12	114	114	0	strelka-mutect	AP3D1,synonymous_variant,p.=,ENST00000355272,NM_001261826.1;AP3D1,synonymous_variant,p.=,ENST00000345016,NM_003938.6;AP3D1,synonymous_variant,p.=,ENST00000589369,;AP3D1,intron_variant,,ENST00000586370,;AP3D1,non_coding_transcript_exon_variant,,ENST00000585652,;AP3D1,non_coding_transcript_exon_variant,,ENST00000589223,;AP3D1,non_coding_transcript_exon_variant,,ENST00000591650,;AP3D1,downstream_gene_variant,,ENST00000592488,;	G	ENST00000355272	Transcript	synonymous_variant	3606/5034	3399/3648	1133/1215	S	tcA/tcC		1		-1	AP3D1	HGNC	HGNC:568	protein_coding	YES	CCDS58638.1	ENSP00000347416	O14617		UPI0000202F99	NM_001261826.1			30/32		hmmpanther:PTHR22781																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	87	2109159	2109159	T	G	1	0	0	0	0	0	0	0	1	862	1799	63	5		5	AP3D1	19	2109159	Silent	SNP	T	C3N-02003_TP	1029047	2109159	56508457	292	28672											
THOP1	0	.	GRCh38	chr19	2810308	2810308	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccatccctgcaggcggAgttcgccatgttcagcggga	6	8	13	14	3	1	0	1	0	0	0	3	2	2	2	4	3	3	3	4	3	0	2	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.1460A>G	p.Glu487Gly	p.E487G	ENST00000307741	10/13	134	125	9	94	93	1	strelka-mutect	THOP1,missense_variant,p.Glu487Gly,ENST00000307741,NM_003249.3;THOP1,missense_variant,p.Glu366Gly,ENST00000586677,;THOP1,missense_variant,p.Glu70Gly,ENST00000590970,;THOP1,missense_variant,p.Glu31Gly,ENST00000587401,;THOP1,missense_variant,p.Glu111Gly,ENST00000591363,;THOP1,5_prime_UTR_variant,,ENST00000395212,;THOP1,5_prime_UTR_variant,,ENST00000587468,;THOP1,non_coding_transcript_exon_variant,,ENST00000591149,;THOP1,non_coding_transcript_exon_variant,,ENST00000592639,;THOP1,non_coding_transcript_exon_variant,,ENST00000589087,;THOP1,non_coding_transcript_exon_variant,,ENST00000590533,;	G	ENST00000307741	Transcript	missense_variant	1663/4804	1460/2070	487/689	E/G	gAg/gGg		1		1	THOP1	HGNC	HGNC:11793	protein_coding	YES	CCDS12095.1	ENSP00000304467	P52888		UPI0000000C3E	NM_003249.3	tolerated(0.07)		10/13		Gene3D:3.40.390.10,Pfam_domain:PF01432,hmmpanther:PTHR11804,hmmpanther:PTHR11804:SF50,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	2810308	2810308	A	G	1	0	0	0	0	1	0	0	0	16305	318	11	5		5	THOP1	19	2810308	Missense_Mutation	SNP	A	C3N-02003_TP	701149	2810308	55807308	293	28673											
TMIGD2	0	.	GRCh38	chr19	4292652	4292652	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcggctgctgggtggggcTtggtctaggagagaccctga	5	9	17	10	1	1	2	0	1	1	1	2	4	1	3	2	6	1	3	2	6	1	2	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.796A>C	p.Ser266Arg	p.S266R	ENST00000301272	5/5	149	130	19	111	111	0	strelka-varscan-mutect	TMIGD2,missense_variant,p.Ser266Arg,ENST00000301272,NM_144615.2;TMIGD2,missense_variant,p.Ser262Arg,ENST00000595645,NM_001169126.1;TMIGD2,missense_variant,p.Ser146Arg,ENST00000600114,NM_001308232.1;TMIGD2,missense_variant,p.Ser94Arg,ENST00000600349,;SHD,downstream_gene_variant,,ENST00000543264,NM_020209.3;SHD,downstream_gene_variant,,ENST00000599689,;SHD,downstream_gene_variant,,ENST00000600475,;SHD,downstream_gene_variant,,ENST00000593383,;SHD,downstream_gene_variant,,ENST00000597466,;	G	ENST00000301272	Transcript	missense_variant	842/1262	796/849	266/282	S/R	Agc/Cgc		1		-1	TMIGD2	HGNC	HGNC:28324	protein_coding	YES	CCDS12126.1	ENSP00000301272	Q96BF3		UPI000013E6F4	NM_144615.2	tolerated(0.14)		5/5		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	4292652	4292652	T	G	1	0	0	0	0	1	0	0	0	16706	1609	56	5		5	TMIGD2	19	4292652	Missense_Mutation	SNP	T	C3N-02003_TP	1482344	4292652	54324964	294	28674											
SEMA6B	0	.	GRCh38	chr19	4548438	4548438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccacagccactcgagtcaGctggtgcctgggggacaggg	7	6	16	12	1	1	0	1	0	0	0	3	2	2	1	3	4	3	1	3	4	0	0	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.1279C>T	p.=	p.L427L	ENST00000586582	13/17	77	70	7	68	68	0	strelka-varscan-mutect	SEMA6B,synonymous_variant,p.=,ENST00000586582,NM_032108.3;SEMA6B,synonymous_variant,p.=,ENST00000586965,;SEMA6B,upstream_gene_variant,,ENST00000589889,;	A	ENST00000586582	Transcript	synonymous_variant	1590/3986	1279/2667	427/888	L	Ctg/Ttg		1		-1	SEMA6B	HGNC	HGNC:10739	protein_coding	YES	CCDS12131.1	ENSP00000467290	Q9H3T3		UPI000004BA6B	NM_032108.3			13/17		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF10,SMART_domains:SM00630,Superfamily_domains:SSF101912																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	4548438	4548438	G	A	1	0	0	0	0	0	0	0	1	14316	962	34	3		3	SEMA6B	19	4548438	Silent	SNP	G	C3N-02003_TP	255786	4548438	54069178	295	28675											
MUC16	0	.	GRCh38	chr19	8976725	8976725	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttgaaatatcaaggtctgTtgaagccatttcctctgtca	11	14	7	9	0	4	2	2	2	2	0	5	2	5	2	2	1	1	1	2	1	4	4	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.4414A>C	p.Thr1472Pro	p.T1472P	ENST00000397910	1/84	336	314	22	323	322	1	strelka-varscan-mutect	MUC16,missense_variant,p.Thr1472Pro,ENST00000397910,NM_024690.2;	G	ENST00000397910	Transcript	missense_variant	4618/43816	4414/43524	1472/14507	T/P	Aca/Cca		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			1/84																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	87	8976725	8976725	T	G	1	0	0	0	0	1	0	0	0	9972	1725	60	5		5	MUC16	19	8976725	Missense_Mutation	SNP	T	C3N-02003_TP	4428287	8976725	49640891	296	28676											
RAB3D	0	.	GRCh38	chr19	11325530	11325530	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgacatccaccaggcgctcGaagacctgcttcacattgat	11	9	8	13	2	1	3	1	2	0	1	3	4	2	3	3	1	1	2	3	1	1	2	rs756183735		C3N-02003_TP	C3N-02003_NB	G	G																c.528C>T	p.=	p.F176F	ENST00000222120	5/5	147	137	10	141	140	1	strelka-varscan-mutect	RAB3D,synonymous_variant,p.=,ENST00000222120,NM_004283.3;RAB3D,synonymous_variant,p.=,ENST00000589655,;TSPAN16,intron_variant,,ENST00000316737,NM_012466.3;CTC-510F12.6,downstream_gene_variant,,ENST00000586051,;CTC-510F12.4,upstream_gene_variant,,ENST00000586356,;CTC-510F12.4,upstream_gene_variant,,ENST00000585801,;	A	ENST00000222120	Transcript	synonymous_variant	789/4273	528/660	176/219	F	ttC/ttT	rs756183735,COSM3821928	1		-1	RAB3D	HGNC	HGNC:9779	protein_coding	YES	CCDS12257.1	ENSP00000222120	O95716	A0A024R7G2	UPI000000125B	NM_004283.3			5/5		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF330,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231											0,1						LOW	1	SNV	1		0,1	1										PASS		rs756183735	.												A	2	1	87	11325530	11325530	G	A	1	0	0	0	0	0	0	0	1	13093	1049	37	1		1	RAB3D	19	11325530	Silent	SNP	G	C3N-02003_TP	2348805	11325530	47292086	297	28677											
B3GNT3	0	.	GRCh38	chr19	17811579	17811579	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctgcctgcaggtcctgttCttacagtggcaggagacaag	8	9	12	12	0	1	1	0	0	1	1	2	2	2	1	3	3	3	3	3	3	2	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.576C>G	p.Phe192Leu	p.F192L	ENST00000318683	3/3	79	73	6	57	57	0	strelka-varscan-mutect	B3GNT3,missense_variant,p.Phe192Leu,ENST00000318683,NM_014256.3;B3GNT3,missense_variant,p.Phe192Leu,ENST00000595387,;B3GNT3,missense_variant,p.Phe192Leu,ENST00000599265,;INSL3,downstream_gene_variant,,ENST00000379695,NM_001265587.1;INSL3,downstream_gene_variant,,ENST00000598577,;INSL3,downstream_gene_variant,,ENST00000317306,NM_005543.3;B3GNT3,downstream_gene_variant,,ENST00000600777,;	G	ENST00000318683	Transcript	missense_variant	723/2226	576/1119	192/372	F/L	ttC/ttG		1		1	B3GNT3	HGNC	HGNC:13528	protein_coding	YES	CCDS12364.1	ENSP00000321874	Q9Y2A9		UPI000007021E	NM_014256.3	deleterious(0.02)		3/3		hmmpanther:PTHR11214:SF23,hmmpanther:PTHR11214,Pfam_domain:PF01762																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	17811579	17811579	C	G	1	0	0	0	0	1	0	0	0	1414	912	32	4		4	B3GNT3	19	17811579	Missense_Mutation	SNP	C	C3N-02003_TP	6486049	17811579	40806037	298	28678											
ZNF536	0	.	GRCh38	chr19	30444411	30444411	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttctgcaagggcaagttCaagaagcgcgaggagctgga	12	6	14	9	2	2	1	1	0	1	1	2	4	2	3	1	3	3	4	1	3	4	2			C3N-02003_TP	C3N-02003_NB	C	C																c.849C>T	p.=	p.F283F	ENST00000355537	2/5	213	201	12	151	151	0	strelka-varscan-mutect	ZNF536,synonymous_variant,p.=,ENST00000355537,NM_014717.1;ZNF536,synonymous_variant,p.=,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;	T	ENST00000355537	Transcript	synonymous_variant	996/4945	849/3903	283/1300	F	ttC/ttT	COSM5554118	1		1	ZNF536	HGNC	HGNC:29025	protein_coding	YES	CCDS32984.1	ENSP00000347730	O15090		UPI000006ED3E	NM_014717.1			2/5		PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	87	30444411	30444411	C	T	1	0	0	0	0	0	0	0	1	18547	825	29	3		3	ZNF536	19	30444411	Silent	SNP	C	C3N-02003_TP	12632832	30444411	28173205	299	28679											
ZNF781	0	.	GRCh38	chr19	37669658	37669658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcaccagtgtgaattctCtgatgctgaataagagttga	11	14	9	7	0	2	5	1	4	2	1	4	5	2	5	1	0	1	2	1	0	3	4	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.491G>A	p.Arg164Lys	p.R164K	ENST00000358582	4/4	96	89	7	189	188	1	strelka-varscan-mutect	ZNF781,missense_variant,p.Arg164Lys,ENST00000358582,NM_152605.3;ZNF781,missense_variant,p.Arg164Lys,ENST00000590008,;ZFP30,intron_variant,,ENST00000587199,;ZFP30,intron_variant,,ENST00000586732,;ZFP30,intron_variant,,ENST00000589676,;ZNF781,downstream_gene_variant,,ENST00000593040,;	T	ENST00000358582	Transcript	missense_variant	1240/3147	491/984	164/327	R/K	aGa/aAa		1		-1	ZNF781	HGNC	HGNC:26745	protein_coding	YES	CCDS12507.1	ENSP00000351391	Q8N8C0	A0A024R0G3	UPI0000351D6C	NM_152605.3	tolerated(0.52)		4/4																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	37669658	37669658	C	T	1	0	0	0	0	1	0	0	0	18737	913	32	3		3	ZNF781	19	37669658	Missense_Mutation	SNP	C	C3N-02003_TP	7225247	37669658	20947958	300	28680											
RYR1	0	.	GRCh38	chr19	38460411	38460411	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggccgccatggtgaattCaagttcctgcccccacctgg	6	9	12	14	1	1	1	1	1	0	0	2	1	2	1	6	4	1	1	6	4	2	2	rs780848817		C3N-02003_TP	C3N-02003_NB	C	C																c.2397C>T	p.=	p.F799F	ENST00000359596	20/106	522	479	43	503	503	0	strelka-varscan-mutect	RYR1,synonymous_variant,p.=,ENST00000355481,NM_001042723.1;RYR1,synonymous_variant,p.=,ENST00000359596,NM_000540.2;	T	ENST00000359596	Transcript	synonymous_variant	2397/15117	2397/15117	799/5038	F	ttC/ttT	rs780848817	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2			20/106		hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Prints_domain:PR00795																	LOW	1	SNV	5			1										PASS		rs780848817	.												T	2	4	87	38460411	38460411	C	T	1	0	0	0	0	0	0	0	1	14028	825	29	3		3	RYR1	19	38460411	Silent	SNP	C	C3N-02003_TP	790753	38460411	20157205	301	28681											
RYR1	0	.	GRCh38	chr19	38511575	38511575	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagcctcttctgcaaacTtgctgctctcgtccgccacc	5	12	6	18	2	4	0	1	0	3	0	6	0	5	0	4	0	5	3	4	0	1	3	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.9137T>G	p.Leu3046Arg	p.L3046R	ENST00000359596	61/106	594	548	46	574	572	2	strelka-varscan-mutect	RYR1,missense_variant,p.Leu3046Arg,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Leu3046Arg,ENST00000359596,NM_000540.2;RYR1,synonymous_variant,p.=,ENST00000599547,;RYR1,intron_variant,,ENST00000594335,;	G	ENST00000359596	Transcript	missense_variant	9137/15117	9137/15117	3046/5038	L/R	cTt/cGt		1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2	deleterious(0)		61/106		hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	87	38511575	38511575	T	G	1	0	0	0	0	1	0	0	0	14028	1609	56	5		5	RYR1	19	38511575	Missense_Mutation	SNP	T	C3N-02003_TP	51164	38511575	20106041	302	28682											
NTN5	0	.	GRCh38	chr19	48664713	48664713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactccggccgcccgacagtCtgaacagctcagagttgaac	10	6	10	15	3	2	3	1	2	1	1	3	4	3	3	3	1	3	2	3	1	2	1	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.686G>A	p.Arg229Lys	p.R229K	ENST00000270235	3/7	187	176	11	181	181	0	strelka-varscan-mutect	NTN5,missense_variant,p.Arg229Lys,ENST00000270235,NM_145807.2;NTN5,5_prime_UTR_variant,,ENST00000596844,;SEC1P,intron_variant,,ENST00000430145,;SEC1P,intron_variant,,ENST00000474419,;SEC1P,intron_variant,,ENST00000483163,;NTN5,non_coding_transcript_exon_variant,,ENST00000600468,;	T	ENST00000270235	Transcript	missense_variant	782/1836	686/1470	229/489	R/K	aGa/aAa		1		-1	NTN5	HGNC	HGNC:25208	protein_coding	YES	CCDS33068.1	ENSP00000270235	Q8WTR8		UPI000007032D	NM_145807.2	tolerated(0.83)		3/7		PROSITE_profiles:PS50027,hmmpanther:PTHR10574,Gene3D:2.10.25.10,Pfam_domain:PF00053,SMART_domains:SM00180,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	48664713	48664713	C	T	1	0	0	0	0	1	0	0	0	10768	913	32	3		3	NTN5	19	48664713	Missense_Mutation	SNP	C	C3N-02003_TP	10153138	48664713	9952903	303	28683											
RCN3	0	.	GRCh38	chr19	49534257	49534257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtgtcgctggccgagcttCgcgcgtggatcgcgcacacg	4	7	17	13	8	0	0	0	0	0	0	3	2	0	1	1	3	1	3	1	3	0	1			C3N-02003_TP	C3N-02003_NB	C	C																c.307C>T	p.Arg103Cys	p.R103C	ENST00000270645	3/7	61	54	7	38	38	0	strelka-mutect	RCN3,missense_variant,p.Arg103Cys,ENST00000270645,NM_020650.2;RCN3,missense_variant,p.Arg52Cys,ENST00000598833,;RCN3,missense_variant,p.Arg103Cys,ENST00000597801,;RCN3,intron_variant,,ENST00000593644,;	T	ENST00000270645	Transcript	missense_variant	754/1859	307/987	103/328	R/C	Cgc/Tgc	COSM5564067	1		1	RCN3	HGNC	HGNC:21145	protein_coding	YES	CCDS12771.1	ENSP00000270645	Q96D15		UPI000000D8C5	NM_020650.2	deleterious(0)		3/7		PROSITE_profiles:PS50222,hmmpanther:PTHR10827:SF47,hmmpanther:PTHR10827,Gene3D:1.10.238.10,Superfamily_domains:SSF47473											1						MODERATE	1	SNV	1		1	1										PASS		rs1451801927	.												T	3	4	87	49534257	49534257	C	T	1	0	0	0	0	1	0	0	0	13351	884	31	1		1	RCN3	19	49534257	Missense_Mutation	SNP	C	C3N-02003_TP	869544	49534257	9083359	304	28684											
KLK5	0	.	GRCh38	chr19	50948969	50948969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttagtgggacgaattcttCtgttcagtttgatgagcatg	8	16	11	6	1	3	2	1	2	2	0	3	4	3	3	0	1	1	3	0	1	2	6	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.482G>A	p.Arg161Lys	p.R161K	ENST00000336334	4/6	385	361	24	399	399	0	strelka-varscan-mutect	KLK5,missense_variant,p.Arg161Lys,ENST00000336334,NM_012427.4;KLK5,missense_variant,p.Arg161Lys,ENST00000391809,NM_001077491.1;KLK5,missense_variant,p.Arg161Lys,ENST00000593428,NM_001077492.1;KLK5,missense_variant,p.Arg161Lys,ENST00000594846,;CTB-147C22.8,upstream_gene_variant,,ENST00000601506,;CTB-147C22.8,upstream_gene_variant,,ENST00000594939,;KLK5,non_coding_transcript_exon_variant,,ENST00000595585,;	T	ENST00000336334	Transcript	missense_variant	835/1563	482/882	161/293	R/K	aGa/aAa		1		-1	KLK5	HGNC	HGNC:6366	protein_coding	YES	CCDS12810.1	ENSP00000337733	Q9Y337	A0A024R4G4	UPI000003751F	NM_012427.4	tolerated(0.72)		4/6		Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF270,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	50948969	50948969	C	T	1	0	0	0	0	1	0	0	0	8276	913	32	3		3	KLK5	19	50948969	Missense_Mutation	SNP	C	C3N-02003_TP	1414712	50948969	7668647	305	28685											
IGLON5	0	.	GRCh38	chr19	51325372	51325372	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcattgtgaacatctcgTcgcctgtgacggtgaatgag	8	10	12	11	4	1	4	0	4	1	0	3	4	1	4	2	1	1	1	2	1	2	1	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.418T>C	p.Ser140Pro	p.S140P	ENST00000270642	4/8	335	317	18	345	345	0	strelka-varscan-mutect	IGLON5,missense_variant,p.Ser140Pro,ENST00000270642,NM_001101372.1;	C	ENST00000270642	Transcript	missense_variant	418/2606	418/1011	140/336	S/P	Tcg/Ccg		1		1	IGLON5	HGNC	HGNC:34550	protein_coding	YES	CCDS46158.1	ENSP00000270642	A6NGN9		UPI000058F1A8	NM_001101372.1	tolerated(0.05)		4/8		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF148,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	87	51325372	51325372	T	C	1	0	0	0	0	1	0	0	0	7502	1667	58	5		5	IGLON5	19	51325372	Missense_Mutation	SNP	T	C3N-02003_TP	376403	51325372	7292244	306	28686											
ZNF534	0	.	GRCh38	chr19	52438075	52438075	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaagccttactaaccgtcaAgtaatccacattgcagataa	15	10	5	11	1	2	1	2	0	0	1	3	1	3	1	3	0	4	2	3	0	6	5	rs753177019		C3N-02003_TP	C3N-02003_NB	A	A																c.654A>C	p.Gln218His	p.Q218H	ENST00000332323	4/4	140	126	14	199	198	1	strelka-varscan-mutect	ZNF534,missense_variant,p.Gln218His,ENST00000332323,NM_001143939.1;ZNF534,missense_variant,p.Gln205His,ENST00000433050,NM_001143938.1;ZNF534,intron_variant,,ENST00000301085,;ZNF534,intron_variant,,ENST00000617900,NM_001291368.1;ZNF534,intron_variant,,ENST00000432303,NM_001291369.1;	C	ENST00000332323	Transcript	missense_variant	715/2086	654/2025	218/674	Q/H	caA/caC	rs753177019,COSM1395939	1		1	ZNF534	HGNC	HGNC:26337	protein_coding	YES	CCDS46165.1	ENSP00000327538	Q76KX8		UPI0000351984	NM_001143939.1	deleterious(0.04)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF187,Gene3D:3.30.160.60,Superfamily_domains:SSF57667											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs753177019	.												C	3	2	87	52438075	52438075	A	C	1	0	0	0	0	1	0	0	0	18546	69	3	5		5	ZNF534	19	52438075	Missense_Mutation	SNP	A	C3N-02003_TP	1112703	52438075	6179541	307	28687											
ZNF761	0	.	GRCh38	chr19	53455607	53455607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagacctttagtcacaagtCatcccttacatgccatcata	13	11	4	13	0	3	1	3	0	0	1	4	1	4	1	3	0	2	0	3	0	5	4	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.1100C>T	p.Ser367Leu	p.S367L	ENST00000432094	5/5	161	147	14	351	351	0	varscan-mutect	ZNF761,missense_variant,p.Ser367Leu,ENST00000432094,NM_001289951.1,NM_001008401.3,NM_001289952.1;ZNF761,missense_variant,p.Ser367Leu,ENST00000454407,;ZNF761,3_prime_UTR_variant,,ENST00000334095,;	T	ENST00000432094	Transcript	missense_variant	1407/4061	1100/2241	367/746	S/L	tCa/tTa		1		1	ZNF761	HGNC	HGNC:23179	protein_coding			ENSP00000480218		A0A087WXT7	UPI0001825C19	NM_001289951.1,NM_001008401.3,NM_001289952.1	deleterious(0.04)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF350,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	53455607	53455607	C	T	1	0	0	0	0	1	0	0	0	18719	838	29	3		3	ZNF761	19	53455607	Missense_Mutation	SNP	C	C3N-02003_TP	1017532	53455607	5162009	308	28688											
SSC5D	0	.	GRCh38	chr19	55518647	55518647	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcctccccttgaccccctCaccctagggccaactcctgg	6	8	6	21	0	1	1	1	1	0	0	4	1	4	1	8	2	1	0	8	2	2	2	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.4371C>G	p.=	p.L1457L	ENST00000389623	14/14	115	100	15	61	61	0	strelka-varscan-mutect	SSC5D,synonymous_variant,p.=,ENST00000389623,NM_001144950.1;	G	ENST00000389623	Transcript	synonymous_variant	4394/4845	4371/4722	1457/1573	L	ctC/ctG		1		1	SSC5D	HGNC	HGNC:26641	protein_coding	YES	CCDS46196.1	ENSP00000374274	A1L4H1		UPI000192952A	NM_001144950.1			14/14		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1381400435	.												G	2	3	87	55518647	55518647	C	G	1	0	0	0	0	0	0	0	1	15558	813	29	4		4	SSC5D	19	55518647	Silent	SNP	C	C3N-02003_TP	2063040	55518647	3098969	309	28689											
NLRP4	0	.	GRCh38	chr19	55858230	55858230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctccctgctcatcgctatCaaacccgtgtgcccgaagga	8	8	9	16	3	2	0	2	0	0	0	4	2	3	1	4	1	3	2	4	1	3	1			C3N-02003_TP	C3N-02003_NB	C	C																c.837C>G	p.Ile279Met	p.I279M	ENST00000301295	3/10	286	264	22	205	205	0	strelka-varscan-mutect	NLRP4,missense_variant,p.Ile279Met,ENST00000301295,NM_134444.4;NLRP4,missense_variant,p.Ile204Met,ENST00000587891,;NLRP4,upstream_gene_variant,,ENST00000589437,;NLRP4,downstream_gene_variant,,ENST00000587464,;	G	ENST00000301295	Transcript	missense_variant	1259/3670	837/2985	279/994	I/M	atC/atG	COSM4896617,COSM4896618	1		1	NLRP4	HGNC	HGNC:22943	protein_coding	YES	CCDS12936.1	ENSP00000301295	Q96MN2		UPI000013E6FD	NM_134444.4	tolerated(0.11)		3/10		PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Pfam_domain:PF05729,Superfamily_domains:SSF52540											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	87	55858230	55858230	C	G	1	0	0	0	0	1	0	0	0	10517	816	29	4		4	NLRP4	19	55858230	Missense_Mutation	SNP	C	C3N-02003_TP	339583	55858230	2759386	310	28690											
MZF1	0	.	GRCh38	chr19	58563115	58563115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgaagctgcggccgcactCgctgcacacgaatggtcgct	7	7	13	14	5	0	1	0	1	0	0	2	2	0	1	1	2	3	6	1	2	2	0	rs748787144		C3N-02003_TP	C3N-02003_NB	C	C																c.1162G>A	p.Glu388Lys	p.E388K	ENST00000215057	6/6	189	170	19	130	130	0	strelka-varscan-mutect	MZF1,missense_variant,p.Glu388Lys,ENST00000215057,NM_198055.1;MZF1,missense_variant,p.Glu388Lys,ENST00000599369,NM_003422.2;MZF1,3_prime_UTR_variant,,ENST00000594234,NM_001267033.1;UBE2M,upstream_gene_variant,,ENST00000253023,NM_003969.3;UBE2M,upstream_gene_variant,,ENST00000595957,;MZF1-AS1,intron_variant,,ENST00000600534,;MZF1-AS1,intron_variant,,ENST00000593642,;MZF1-AS1,intron_variant,,ENST00000600726,;MZF1,non_coding_transcript_exon_variant,,ENST00000600004,;	T	ENST00000215057	Transcript	missense_variant	1723/2905	1162/2205	388/734	E/K	Gag/Aag	rs748787144,COSM5150477	1		-1	MZF1	HGNC	HGNC:13108	protein_coding	YES	CCDS12988.1	ENSP00000215057	P28698	A0A024R4T5	UPI0000072863	NM_198055.1	deleterious(0.03)		6/6		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF2,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs748787144	.												T	3	4	87	58563115	58563115	C	T	1	0	0	0	0	1	0	0	0	10109	893	31	1		1	MZF1	19	58563115	Missense_Mutation	SNP	C	C3N-02003_TP	2704885	58563115	54501	311	28691											
DEFB121	0	.	GRCh38	chr20	31405017	31405017	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttagcctcagttttgcataAtatatagtatacttcacttt	11	18	4	8	0	2	0	2	0	0	0	2	0	2	0	1	0	3	3	1	0	7	11	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.127T>G	p.Leu43Val	p.L43V	ENST00000376314	2/2	180	154	26	193	192	1	strelka-varscan-mutect	DEFB121,missense_variant,p.Leu43Val,ENST00000376314,NM_001011878.2;DEFB121,non_coding_transcript_exon_variant,,ENST00000376312,;	C	ENST00000376314	Transcript	missense_variant	241/389	127/231	43/76	L/V	Tta/Gta		1		-1	DEFB121	HGNC	HGNC:18101	protein_coding	YES	CCDS33456.1	ENSP00000417128	Q5J5C9		UPI00004A06B0	NM_001011878.2	deleterious(0.02)		2/2		hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF30,Pfam_domain:PF13841,PD866254																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	31405017	31405017	A	C	1	0	0	0	0	1	0	0	0	4211	98	4	5		5	DEFB121	20	31405017	Missense_Mutation	SNP	A	C3N-02003_TP		31405017	33039150	312	28692											
RBM39	0	.	GRCh38	chr20	35729517	35729517	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggatggcactgttaaattTtggtccggagctaaaaagga	12	11	12	6	2	0	0	0	0	0	0	2	3	1	3	1	5	1	3	1	5	5	4	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.307A>G	p.Lys103Glu	p.K103E	ENST00000253363	5/17	156	147	9	188	188	0	strelka-varscan-mutect	RBM39,missense_variant,p.Lys103Glu,ENST00000361162,NM_001323424.1,NM_004902.3;RBM39,missense_variant,p.Lys103Glu,ENST00000253363,NM_184234.2;RBM39,missense_variant,p.Lys103Glu,ENST00000374038,;RBM39,missense_variant,p.Lys103Glu,ENST00000434927,;RBM39,intron_variant,,ENST00000528062,NM_001242600.1,NM_001242599.1;RBM39,upstream_gene_variant,,ENST00000448303,;RBM39,downstream_gene_variant,,ENST00000426951,;RBM39,upstream_gene_variant,,ENST00000494274,;RBM39,downstream_gene_variant,,ENST00000442447,;RBM39,downstream_gene_variant,,ENST00000487604,;RBM39,missense_variant,p.Lys103Glu,ENST00000338163,;RBM39,3_prime_UTR_variant,,ENST00000403542,;RBM39,3_prime_UTR_variant,,ENST00000429968,;RBM39,3_prime_UTR_variant,,ENST00000444878,;RBM39,3_prime_UTR_variant,,ENST00000412738,;RBM39,3_prime_UTR_variant,,ENST00000416108,;RBM39,3_prime_UTR_variant,,ENST00000425184,;RBM39,non_coding_transcript_exon_variant,,ENST00000463004,;RBM39,non_coding_transcript_exon_variant,,ENST00000461283,;RBM39,non_coding_transcript_exon_variant,,ENST00000492779,;RBM39,non_coding_transcript_exon_variant,,ENST00000481037,;RBM39,intron_variant,,ENST00000455343,;RBM39,downstream_gene_variant,,ENST00000477334,;RBM39,upstream_gene_variant,,ENST00000490484,;RBM39,downstream_gene_variant,,ENST00000433027,;RBM39,downstream_gene_variant,,ENST00000449489,;	C	ENST00000253363	Transcript	missense_variant	331/2488	307/1593	103/530	K/E	Aaa/Gaa		1		-1	RBM39	HGNC	HGNC:15923	protein_coding	YES	CCDS13266.1	ENSP00000253363	Q14498		UPI0000134418	NM_184234.2	tolerated(0.33)		5/17		Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01622																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	35729517	35729517	T	C	1	0	0	0	0	1	0	0	0	13299	1850	64	5		5	RBM39	20	35729517	Missense_Mutation	SNP	T	C3N-02003_TP	4324500	35729517	28714650	313	28693											
R3HDML	0	.	GRCh38	chr20	44350776	44350776	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaggggctgaaatccaacaAgttcacgtggttctgaattt	12	11	10	8	1	2	2	1	2	1	0	3	2	3	2	1	3	1	3	1	3	5	3	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.746A>C	p.Lys249Thr	p.K249T	ENST00000217043	5/5	251	233	18	188	188	0	strelka-varscan-mutect	R3HDML,missense_variant,p.Lys249Thr,ENST00000217043,NM_178491.3;HNF4A,upstream_gene_variant,,ENST00000316673,NM_175914.4;RP5-881L22.5,non_coding_transcript_exon_variant,,ENST00000438702,;RP5-881L22.5,non_coding_transcript_exon_variant,,ENST00000430481,;	C	ENST00000217043	Transcript	missense_variant	918/1377	746/762	249/253	K/T	aAg/aCg		1		1	R3HDML	HGNC	HGNC:16249	protein_coding	YES	CCDS13329.1	ENSP00000217043	Q9H3Y0		UPI00000422F8	NM_178491.3	tolerated(0.07)		5/5		hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF62																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	44350776	44350776	A	C	1	0	0	0	0	1	0	0	0	13047	72	3	5		5	R3HDML	20	44350776	Missense_Mutation	SNP	A	C3N-02003_TP	8621259	44350776	20093391	314	28694											
WFDC8	0	.	GRCh38	chr20	45555799	45555799	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtgtgcagcggtaatttTtaaagtcaaaatgccagcgc	12	10	12	7	2	1	0	1	0	0	0	1	0	1	0	1	2	4	2	1	2	5	4	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.347A>T	p.Lys116Ile	p.K116I	ENST00000357199	4/7	216	202	14	194	194	0	strelka-varscan-mutect	WFDC8,missense_variant,p.Lys116Ile,ENST00000357199,NM_181510.2;WFDC8,missense_variant,p.Lys116Ile,ENST00000289953,NM_130896.2;RNA5SP485,downstream_gene_variant,,ENST00000365053,;	A	ENST00000357199	Transcript	missense_variant	426/1268	347/726	116/241	K/I	aAa/aTa		1		-1	WFDC8	HGNC	HGNC:16163	protein_coding	YES	CCDS13361.1	ENSP00000361735	Q8IUA0	A0A140VK68	UPI000016059B	NM_181510.2	deleterious(0.03)		4/7		Gene3D:4.10.410.10,Pfam_domain:PF00014,PROSITE_profiles:PS50279,hmmpanther:PTHR10083,SMART_domains:SM00131,Superfamily_domains:SSF57362																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	87	45555799	45555799	T	A	1	0	0	0	0	1	0	0	0	17913	1841	64	4		4	WFDC8	20	45555799	Missense_Mutation	SNP	T	C3N-02003_TP	1205023	45555799	18888368	315	28695											
ZSWIM3	0	.	GRCh38	chr20	45878333	45878333	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaagtaccagtacctccTtgggcccaatggggagctcc	10	7	12	12	0	0	1	0	0	0	1	2	3	2	2	5	3	3	3	5	3	5	3	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1775T>C	p.Leu592Pro	p.L592P	ENST00000255152	2/2	413	390	23	269	269	0	strelka-varscan-mutect	ZSWIM3,missense_variant,p.Leu592Pro,ENST00000255152,NM_080752.3;ZSWIM1,upstream_gene_variant,,ENST00000372523,NM_080603.4;ZSWIM1,upstream_gene_variant,,ENST00000372520,;	C	ENST00000255152	Transcript	missense_variant	1984/2773	1775/2091	592/696	L/P	cTt/cCt		1		1	ZSWIM3	HGNC	HGNC:16157	protein_coding	YES	CCDS13381.1	ENSP00000255152	Q96MP5		UPI00000736E4	NM_080752.3	tolerated(0.2)		2/2		hmmpanther:PTHR31569:SF3,hmmpanther:PTHR31569																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	87	45878333	45878333	T	C	1	0	0	0	0	1	0	0	0	18843	1609	56	5		5	ZSWIM3	20	45878333	Missense_Mutation	SNP	T	C3N-02003_TP	322534	45878333	18565834	316	28696											
ZSWIM1	0	.	GRCh38	chr20	45883582	45883582	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccacatccagcactccctCaatgccatctgcacagggcc	9	7	6	19	0	2	0	1	0	1	0	5	0	5	0	5	1	3	2	5	1	1	0	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.990C>G	p.=	p.L330L	ENST00000372523	2/2	341	307	34	220	220	0	strelka-varscan-mutect	ZSWIM1,synonymous_variant,p.=,ENST00000372523,NM_080603.4;ZSWIM1,synonymous_variant,p.=,ENST00000372520,;ZSWIM3,downstream_gene_variant,,ENST00000255152,NM_080752.3;SPATA25,downstream_gene_variant,,ENST00000372519,NM_080608.3;	G	ENST00000372523	Transcript	synonymous_variant	1085/2769	990/1458	330/485	L	ctC/ctG		1		1	ZSWIM1	HGNC	HGNC:16155	protein_coding	YES	CCDS13382.2	ENSP00000361601	Q9BR11		UPI0000470896	NM_080603.4			2/2		hmmpanther:PTHR31569,hmmpanther:PTHR31569:SF0																	LOW		SNV	2			1										PASS		.	.												G	2	3	87	45883582	45883582	C	G	1	0	0	0	0	0	0	0	1	18841	813	29	4		4	ZSWIM1	20	45883582	Silent	SNP	C	C3N-02003_TP	5249	45883582	18560585	317	28697											
NCOA3	0	.	GRCh38	chr20	47627152	47627152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagacagaaaggattttCttaagaatttaccaaaatct	19	11	6	5	0	2	4	0	0	2	4	2	5	2	5	1	1	1	0	1	1	8	5	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.508C>T	p.Leu170Phe	p.L170F	ENST00000371998	6/23	68	61	7	96	96	0	strelka-varscan-mutect	NCOA3,missense_variant,p.Leu170Phe,ENST00000372004,NM_006534.3;NCOA3,missense_variant,p.Leu170Phe,ENST00000371997,NM_001174088.1;NCOA3,missense_variant,p.Leu170Phe,ENST00000371998,NM_001174087.1,NM_181659.2;NCOA3,non_coding_transcript_exon_variant,,ENST00000497292,;NCOA3,downstream_gene_variant,,ENST00000490248,;RP5-1049G16.4,downstream_gene_variant,,ENST00000448675,;	T	ENST00000371998	Transcript	missense_variant	699/4668	508/4275	170/1424	L/F	Ctt/Ttt		1		1	NCOA3	HGNC	HGNC:7670	protein_coding	YES	CCDS13407.1	ENSP00000361066	Q9Y6Q9		UPI000012FE45	NM_001174087.1,NM_181659.2	tolerated(0.23)		6/23		PROSITE_profiles:PS50112,hmmpanther:PTHR10684:SF3,hmmpanther:PTHR10684,PIRSF_domain:PIRSF038181,Gene3D:3.30.450.20,Pfam_domain:PF00989,SMART_domains:SM00091,Superfamily_domains:SSF55785																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	87	47627152	47627152	C	T	1	0	0	0	0	1	0	0	0	10249	913	32	3		3	NCOA3	20	47627152	Missense_Mutation	SNP	C	C3N-02003_TP	1743570	47627152	16817015	318	28698											
MYT1	0	.	GRCh38	chr20	64213555	64213555	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgggtgtcccattgcTgccgccgaaaaattagccaa	9	11	10	11	2	1	0	0	0	1	0	2	1	2	0	4	1	3	1	4	1	4	3	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1539T>C	p.=	p.A513A	ENST00000328439	10/23	246	226	20	200	200	0	strelka-mutect	MYT1,synonymous_variant,p.=,ENST00000536311,;MYT1,synonymous_variant,p.=,ENST00000328439,NM_004535.2;MYT1,synonymous_variant,p.=,ENST00000622439,;MYT1,synonymous_variant,p.=,ENST00000360149,;	C	ENST00000328439	Transcript	synonymous_variant	1903/5535	1539/3366	513/1121	A	gcT/gcC		1		1	MYT1	HGNC	HGNC:7622	protein_coding	YES	CCDS13558.1	ENSP00000327465	Q01538		UPI000012FBFA	NM_004535.2			10/23		Superfamily_domains:0042508,Pfam_domain:PF01530,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	87	64213555	64213555	T	C	1	0	0	0	0	0	0	0	1	10105	1567	55	5		5	MYT1	20	64213555	Silent	SNP	T	C3N-02003_TP	16586403	64213555	230612	319	28699											
PCMTD2	0	.	GRCh38	chr20	64260043	64260043	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacagtatatccggacTgagctggtagagcaggcttt	11	9	13	8	1	0	2	0	1	0	1	1	4	1	3	1	3	3	6	1	3	4	4	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.78T>G	p.=	p.T26T	ENST00000308824	2/6	265	246	19	251	250	1	strelka-varscan-mutect	PCMTD2,synonymous_variant,p.=,ENST00000308824,NM_018257.2;PCMTD2,synonymous_variant,p.=,ENST00000369758,NM_001104925.1;PCMTD2,synonymous_variant,p.=,ENST00000609372,;PCMTD2,synonymous_variant,p.=,ENST00000299468,;PCMTD2,synonymous_variant,p.=,ENST00000609764,;PCMTD2,synonymous_variant,p.=,ENST00000610074,;PCMTD2,synonymous_variant,p.=,ENST00000610196,;PCMTD2,non_coding_transcript_exon_variant,,ENST00000609297,;PCMTD2,upstream_gene_variant,,ENST00000608844,;	G	ENST00000308824	Transcript	synonymous_variant	205/3843	78/1086	26/361	T	acT/acG		1		1	PCMTD2	HGNC	HGNC:15882	protein_coding	YES	CCDS13559.1	ENSP00000307854	Q9NV79		UPI0000049C88	NM_018257.2			2/6		Gene3D:3.40.50.150,Pfam_domain:PF01135,hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF2,Superfamily_domains:SSF53335																	LOW	1	SNV	2			1										PASS		.	.												G	2	3	87	64260043	64260043	T	G	1	0	0	0	0	0	0	0	1	11675	1567	55	5		5	PCMTD2	20	64260043	Silent	SNP	T	C3N-02003_TP	46488	64260043	184124	320	28700											
GRIK1	0	.	GRCh38	chr21	29689774	29689774	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgttttccagttgtaataGaggaccagatccaggatcgc	11	11	10	9	1	0	2	0	0	0	2	3	4	2	4	3	2	0	3	3	2	2	5	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.498C>T	p.=	p.L166L	ENST00000399907	3/17	217	198	19	209	209	0	strelka-varscan-mutect	GRIK1,synonymous_variant,p.=,ENST00000399914,;GRIK1,synonymous_variant,p.=,ENST00000399907,NM_000830.3;GRIK1,synonymous_variant,p.=,ENST00000399909,;GRIK1,synonymous_variant,p.=,ENST00000399913,;GRIK1,synonymous_variant,p.=,ENST00000327783,;GRIK1,synonymous_variant,p.=,ENST00000389125,NM_175611.2;GRIK1,synonymous_variant,p.=,ENST00000389124,;GRIK1,non_coding_transcript_exon_variant,,ENST00000472429,;	A	ENST00000399907	Transcript	synonymous_variant	910/3472	498/2757	166/918	L	ctC/ctT		1		-1	GRIK1	HGNC	HGNC:4579	protein_coding	YES	CCDS42913.1	ENSP00000382791	P39086		UPI000012B612	NM_000830.3			3/17		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	29689774	29689774	G	A	1	0	0	0	0	0	0	0	1	6655	929	33	3		3	GRIK1	21	29689774	Silent	SNP	G	C3N-02003_TP		29689774	17020209	321	28701											
PLA2G3	0	.	GRCh38	chr22	31139982	31139982	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttcttcctggcccctgctgGactctcctcaagcgctcggc	3	11	9	18	2	3	0	1	0	2	0	6	1	4	1	4	3	2	2	4	3	1	2			C3N-02003_TP	C3N-02003_NB	G	G																c.373C>G	p.Pro125Ala	p.P125A	ENST00000215885	1/7	451	427	24	404	404	0	strelka-varscan-mutect	PLA2G3,missense_variant,p.Pro125Ala,ENST00000215885,NM_015715.4;	C	ENST00000215885	Transcript	missense_variant	626/2697	373/1530	125/509	P/A	Cca/Gca	COSM1616375,COSM1616376	1		-1	PLA2G3	HGNC	HGNC:17934	protein_coding	YES	CCDS13889.1	ENSP00000215885	Q9NZ20		UPI00001AE5E4	NM_015715.4	tolerated(0.24)		1/7		hmmpanther:PTHR12253,hmmpanther:PTHR12253:SF19											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	87	31139982	31139982	G	C	1	0	0	0	0	1	0	0	0	12096	1174	41	4		4	PLA2G3	22	31139982	Missense_Mutation	SNP	G	C3N-02003_TP		31139982	19678486	322	28702											
SEPT3	0	.	GRCh38	chr22	41986040	41986040	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcttcaaatcccaagtgAgccgcaaggcctccagctgg	9	7	10	15	2	2	1	1	1	1	0	4	1	4	1	4	2	2	3	4	2	3	1	novel		C3N-02003_TP	C3N-02003_NB	A	A																c.259A>G	p.Ser87Gly	p.S87G	ENST00000396426	3/11	267	238	29	220	220	0	strelka-varscan-mutect	SEPT3,missense_variant,p.Ser87Gly,ENST00000396425,NM_019106.5;SEPT3,missense_variant,p.Ser87Gly,ENST00000396426,NM_145733.2;SEPT3,missense_variant,p.Ser23Gly,ENST00000406029,;SEPT3,missense_variant,p.Ser74Gly,ENST00000449288,;CTA-250D10.19,upstream_gene_variant,,ENST00000424613,;SEPT3,non_coding_transcript_exon_variant,,ENST00000460267,;SEPT3,intron_variant,,ENST00000396417,;	G	ENST00000396426	Transcript	missense_variant	514/2586	259/1077	87/358	S/G	Agc/Ggc		1		1	SEPT3	HGNC	HGNC:10750	protein_coding	YES	CCDS14026.2	ENSP00000379704	Q9UH03		UPI000067DA91	NM_145733.2	tolerated(0.19)		3/11		Gene3D:3.40.50.300,Pfam_domain:PF00735,PIRSF_domain:PIRSF006698,PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF62,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	41986040	41986040	A	G	1	0	0	0	0	1	0	0	0	14341	304	11	5		5	SEPT3	22	41986040	Missense_Mutation	SNP	A	C3N-02003_TP	10846058	41986040	8832428	323	28703											
PLCXD1	0	.	GRCh38	chrX	291505	291505	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccctccccaggacacaCtcacggaaatctcggagtgg	10	5	9	17	2	2	0	1	0	1	0	4	3	3	3	5	4	0	0	5	4	1	0	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.400C>G	p.Leu134Val	p.L134V	ENST00000381657	5/7	162	140	22	189	189	0	strelka-varscan-mutect	PLCXD1,missense_variant,p.Leu134Val,ENST00000381657,NM_018390.3;PLCXD1,missense_variant,p.Leu134Val,ENST00000399012,;PLCXD1,missense_variant,p.Leu134Val,ENST00000381663,;PLCXD1,missense_variant,p.Leu134Val,ENST00000430923,;PLCXD1,missense_variant,p.Leu134Val,ENST00000447472,;PLCXD1,missense_variant,p.Leu134Val,ENST00000415337,;PLCXD1,downstream_gene_variant,,ENST00000448477,;PLCXD1,downstream_gene_variant,,ENST00000445062,;PLCXD1,downstream_gene_variant,,ENST00000429181,;PLCXD1,downstream_gene_variant,,ENST00000443019,;PLCXD1,non_coding_transcript_exon_variant,,ENST00000484611,;	G	ENST00000381657	Transcript	missense_variant	914/5507	400/972	134/323	L/V	Ctc/Gtc		1		1	PLCXD1	HGNC	HGNC:23148	protein_coding	YES	CCDS14103.1	ENSP00000371073	Q9NUJ7		UPI0000048190	NM_018390.3	deleterious(0)		5/7		Gene3D:3.20.20.190,Pfam_domain:PF00388,PROSITE_profiles:PS50007,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF24,SMART_domains:SM00148,Superfamily_domains:SSF51695																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	87	291505	291505	C	G	1	0	0	0	0	1	0	0	0	12135	565	20	4		4	PLCXD1	23	291505	Missense_Mutation	SNP	C	C3N-02003_TP		291505	155749390	324	28704											
CSF2RA	0	.	GRCh38	chrX	1285912	1285912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acaagaagaacagagtcgtgGaacccagggtgagacgaatt	16	5	13	7	2	0	4	0	1	0	4	1	7	0	5	1	2	2	0	1	2	5	1	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.211G>C	p.Glu71Gln	p.E71Q	ENST00000417535	4/14	357	327	30	316	316	0	strelka-varscan-mutect	CSF2RA,missense_variant,p.Glu71Gln,ENST00000381524,;CSF2RA,missense_variant,p.Glu71Gln,ENST00000417535,NM_001161530.1;CSF2RA,missense_variant,p.Glu71Gln,ENST00000432318,NM_001161529.1;CSF2RA,missense_variant,p.Glu71Gln,ENST00000381529,NM_006140.4,NM_172245.2;CSF2RA,missense_variant,p.Glu71Gln,ENST00000355432,NM_172246.2;CSF2RA,missense_variant,p.Glu71Gln,ENST00000381509,NM_001161531.1;CSF2RA,missense_variant,p.Glu71Gln,ENST00000355805,NM_172249.2;CSF2RA,missense_variant,p.Glu71Gln,ENST00000381500,NM_172247.2;CSF2RA,missense_variant,p.Glu71Gln,ENST00000412290,;CSF2RA,missense_variant,p.Glu71Gln,ENST00000494969,;CSF2RA,intron_variant,,ENST00000501036,NM_001161532.1;CSF2RA,non_coding_transcript_exon_variant,,ENST00000477940,;CSF2RA,intron_variant,,ENST00000493312,;CSF2RA,upstream_gene_variant,,ENST00000475259,;CSF2RA,downstream_gene_variant,,ENST00000481245,;CSF2RA,upstream_gene_variant,,ENST00000478256,;CSF2RA,missense_variant,p.Glu71Gln,ENST00000486791,;	C	ENST00000417535	Transcript	missense_variant	405/1955	211/1305	71/434	E/Q	Gaa/Caa		1		1	CSF2RA	HGNC	HGNC:2435	protein_coding	YES	CCDS55359.1	ENSP00000394227	P15509		UPI000159C3E4	NM_001161530.1	tolerated(0.39)		4/14		hmmpanther:PTHR23036:SF94,hmmpanther:PTHR23036																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	87	1285912	1285912	G	C	1	0	0	0	0	1	0	0	0	3735	1175	41	4		4	CSF2RA	23	1285912	Missense_Mutation	SNP	G	C3N-02003_TP	994407	1285912	154754983	325	28705											
MAGEB17	0	.	GRCh38	chrX	16170609	16170609	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcctgcttcagctgtttCactcacaagttctgatgaag	8	14	7	12	0	5	2	3	2	2	0	6	2	5	2	1	0	2	4	1	0	2	3			C3N-02003_TP	C3N-02003_NB	C	C																c.227C>G	p.Ser76Ter	p.S76*	ENST00000400004	2/2	134	122	12	104	104	0	strelka-varscan-mutect	MAGEB17,stop_gained,p.Ser76Ter,ENST00000400004,NM_001277307.1;MAGEB17,stop_gained,p.Ser76Ter,ENST00000400003,;RP11-431J24.2,splice_region_variant,,ENST00000435789,;	G	ENST00000400004	Transcript	stop_gained	579/1434	227/1011	76/336	S/*	tCa/tGa	COSM4852663,COSM4852664	1		1	MAGEB17	HGNC	HGNC:17418	protein_coding	YES	CCDS59524.1	ENSP00000382884	A8MXT2		UPI00001602F1	NM_001277307.1			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF67,Pfam_domain:PF12440,SMART_domains:SM01392											1,1						HIGH	1	SNV	2		1,1	1										PASS		.	.												G	4	3	87	16170609	16170609	C	G	1	0	0	0	0	0	1	0	0	9090	838	29	4		4	MAGEB17	23	16170609	Nonsense_Mutation	SNP	C	C3N-02003_TP	14884697	16170609	139870286	326	28706											
SCML2	0	.	GRCh38	chrX	18256874	18256874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatttttatcatgctctgcaGagctgtgagtatgacccctg	8	14	10	9	0	2	3	1	2	1	1	2	4	2	3	2	0	3	4	2	0	2	4			C3N-02003_TP	C3N-02003_NB	G	G																c.1430C>T	p.Ser477Phe	p.S477F	ENST00000251900	11/15	40	36	4	58	58	0	strelka-varscan-mutect	SCML2,missense_variant,p.Ser477Phe,ENST00000251900,NM_006089.2;	A	ENST00000251900	Transcript	missense_variant	1590/4200	1430/2103	477/700	S/F	tCt/tTt	COSM357787	1		-1	SCML2	HGNC	HGNC:10581	protein_coding	YES	CCDS14185.1	ENSP00000251900	Q9UQR0		UPI0000071E54	NM_006089.2	deleterious(0.04)		11/15		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF84											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	87	18256874	18256874	G	A	1	0	0	0	0	1	0	0	0	14179	942	33	3		3	SCML2	23	18256874	Missense_Mutation	SNP	G	C3N-02003_TP	2086265	18256874	137784021	327	28707											
PPP4R3CP	0	.	GRCh38	chrX	27462008	27462008	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaacagcacctcctaacTcaggatcagtatcacagatc	15	8	6	12	0	3	2	3	1	0	1	5	3	4	3	2	1	3	2	2	1	4	2	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1289A>C	p.Glu430Ala	p.E430A	ENST00000412172	1/1	74	67	7	151	149	2	strelka-varscan-mutect	PPP4R3CP,missense_variant,p.Glu430Ala,ENST00000412172,;	G	ENST00000412172	Transcript	missense_variant	1334/3131	1289/2499	430/832	E/A	gAg/gCg		1		-1	PPP4R3CP	HGNC	HGNC:33146	protein_coding	YES		ENSP00000489770			UPI0000D61D3F				1/1		hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF5																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	87	27462008	27462008	T	G	1	0	0	0	0	1	0	0	0	12529	1551	54	5		5	PPP4R3CP	23	27462008	Missense_Mutation	SNP	T	C3N-02003_TP	9205134	27462008	128578887	328	28708											
FAM47C	0	.	GRCh38	chrX	37010475	37010475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccagagactcgcgtatctCatctccgcccagagcctcct	7	9	7	18	3	2	2	1	0	2	2	7	3	4	2	5	0	1	1	5	0	1	1	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.2065C>T	p.His689Tyr	p.H689Y	ENST00000358047	1/1	148	127	21	192	192	0	strelka-varscan-mutect	FAM47C,missense_variant,p.His689Tyr,ENST00000358047,NM_001013736.2;	T	ENST00000358047	Transcript	missense_variant	2079/3270	2065/3108	689/1035	H/Y	Cat/Tat		1		1	FAM47C	HGNC	HGNC:25301	protein_coding	YES	CCDS35227.1	ENSP00000367913	Q5HY64		UPI000041ABF8	NM_001013736.2	deleterious(0.04)		1/1		hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642,Pfam_domain:PF14642																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	87	37010475	37010475	C	T	1	0	0	0	0	1	0	0	0	5449	826	29	3		3	FAM47C	23	37010475	Missense_Mutation	SNP	C	C3N-02003_TP	9548467	37010475	119030420	329	28709											
ZXDA	0	.	GRCh38	chrX	57909757	57909757	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggtcggaccgcagctCtgggcagtcacccgggtgcg	6	5	17	13	4	2	0	1	0	1	0	3	2	2	2	2	5	2	3	2	5	0	0	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.664G>T	p.Glu222Ter	p.E222*	ENST00000358697	1/1	78	69	9	41	41	0	strelka-varscan-mutect	ZXDA,stop_gained,p.Glu222Ter,ENST00000358697,NM_007156.4;	A	ENST00000358697	Transcript	stop_gained	1064/4113	664/2400	222/799	E/*	Gag/Tag		1		-1	ZXDA	HGNC	HGNC:13198	protein_coding	YES	CCDS14376.1	ENSP00000351530	P98168		UPI000013C494	NM_007156.4			1/1		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF85																	HIGH	1	SNV				1										PASS		.	.												A	4	1	87	57909757	57909757	C	A	1	0	0	0	0	0	1	0	0	18853	922	32	2		2	ZXDA	23	57909757	Nonsense_Mutation	SNP	C	C3N-02003_TP	20899282	57909757	98131138	330	28710											
KIAA1210	0	.	GRCh38	chrX	119088781	119088781	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacaaaactttttgattCtgagaagacttcttgttcat	12	16	5	8	0	4	3	2	2	2	2	4	4	4	3	0	0	2	1	0	0	4	6	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.2449G>T	p.Glu817Ter	p.E817*	ENST00000402510	11/14	109	99	10	117	117	0	strelka-varscan-mutect	KIAA1210,stop_gained,p.Glu817Ter,ENST00000402510,NM_020721.1;	A	ENST00000402510	Transcript	stop_gained	2449/7824	2449/5130	817/1709	E/*	Gaa/Taa		1		-1	KIAA1210	HGNC	HGNC:29218	protein_coding	YES	CCDS48156.1	ENSP00000384670	Q9ULL0		UPI0001596C4C	NM_020721.1			11/14																			HIGH	1	SNV	5			1										PASS		.	.												A	4	1	87	119088781	119088781	C	A	1	0	0	0	0	0	1	0	0	8106	922	32	2		2	KIAA1210	23	119088781	Nonsense_Mutation	SNP	C	C3N-02003_TP	61179024	119088781	36952114	331	28711											
FGF13	0	.	GRCh38	chrX	138635625	138635625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataattttcaaacactgattCtttgaatttgcactcaggtg	12	16	6	7	0	3	2	2	2	1	0	3	2	3	2	0	1	2	1	0	1	3	6	novel		C3N-02003_TP	C3N-02003_NB	C	C																c.463G>A	p.Glu155Lys	p.E155K	ENST00000436198	6/7	109	91	18	93	93	0	strelka-varscan-mutect	FGF13,missense_variant,p.Glu145Lys,ENST00000315930,NM_004114.3;FGF13,missense_variant,p.Glu92Lys,ENST00000305414,NM_033642.2;FGF13,missense_variant,p.Glu155Lys,ENST00000436198,NM_001139500.1;FGF13,missense_variant,p.Glu99Lys,ENST00000626909,NM_001139498.1;FGF13,missense_variant,p.Glu161Lys,ENST00000455663,;Z83313.1,missense_variant,p.Glu126Lys,ENST00000441825,NM_001139501.1,NM_001139502.1;	T	ENST00000436198	Transcript	missense_variant	713/1165	463/768	155/255	E/K	Gaa/Aaa		1		-1	FGF13	HGNC	HGNC:3670	protein_coding	YES	CCDS55513.1	ENSP00000396198	Q92913		UPI00001484B4	NM_001139500.1	deleterious(0)		6/7		Gene3D:2.80.10.50,Pfam_domain:PF00167,Prints_domain:PR00262,Prints_domain:PR00263,PROSITE_patterns:PS00247,hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF77,SMART_domains:SM00442,Superfamily_domains:SSF50353																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	87	138635625	138635625	C	T	1	0	0	0	0	1	0	0	0	5706	922	32	3		3	FGF13	23	138635625	Missense_Mutation	SNP	C	C3N-02003_TP	19546844	138635625	17405270	332	28712											
G6PD	0	.	GRCh38	chrX	154535290	154535290	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggcattcatgtggctgttGaggcgctggtaggaggctgc	6	10	18	7	1	1	1	1	1	0	0	1	2	1	2	0	6	1	6	0	6	1	3	novel		C3N-02003_TP	C3N-02003_NB	G	G																c.453C>T	p.=	p.L151L	ENST00000393562	5/13	257	229	28	229	228	1	strelka-varscan-mutect	G6PD,synonymous_variant,p.=,ENST00000393562,NM_000402.4;G6PD,synonymous_variant,p.=,ENST00000621232,;G6PD,synonymous_variant,p.=,ENST00000369620,;G6PD,synonymous_variant,p.=,ENST00000393564,NM_001042351.2;G6PD,synonymous_variant,p.=,ENST00000439227,;G6PD,synonymous_variant,p.=,ENST00000440967,;G6PD,synonymous_variant,p.=,ENST00000433845,;G6PD,non_coding_transcript_exon_variant,,ENST00000497281,;G6PD,upstream_gene_variant,,ENST00000490651,;G6PD,upstream_gene_variant,,ENST00000489497,;G6PD,downstream_gene_variant,,ENST00000488434,;	A	ENST00000393562	Transcript	synonymous_variant	837/2631	453/1638	151/545	L	ctC/ctT		1		-1	G6PD	HGNC	HGNC:4057	protein_coding	YES	CCDS14756.2	ENSP00000377192	P11413		UPI0000DA0861	NM_000402.4			5/13		Gene3D:3.40.50.720,HAMAP:MF_00966,Pfam_domain:PF00479,PIRSF_domain:PIRSF000110,hmmpanther:PTHR23429,hmmpanther:PTHR23429:SF0,Superfamily_domains:SSF51735,TIGRFAM_domain:TIGR00871																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	87	154535290	154535290	G	A	1	0	0	0	0	0	0	0	1	6017	1277	45	3		3	G6PD	23	154535290	Silent	SNP	G	C3N-02003_TP	15899665	154535290	1505605	333	28713											
GAB3	0	.	GRCh38	chrX	154678277	154678277	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatagtctactctttgttcTtctgaaaggagaagtttctg	10	16	8	7	0	5	2	0	1	5	1	5	3	5	2	0	1	1	2	0	1	4	6	novel		C3N-02003_TP	C3N-02003_NB	T	T																c.1665A>C	p.Glu555Asp	p.E555D	ENST00000424127	10/10	62	53	9	65	65	0	strelka-mutect	GAB3,missense_variant,p.Glu554Asp,ENST00000369575,NM_080612.3;GAB3,missense_variant,p.Glu516Asp,ENST00000369568,NM_001282283.1;GAB3,missense_variant,p.Glu555Asp,ENST00000424127,NM_001081573.2;GAB3,downstream_gene_variant,,ENST00000454973,;GAB3,non_coding_transcript_exon_variant,,ENST00000496390,;GAB3,downstream_gene_variant,,ENST00000475685,;	G	ENST00000424127	Transcript	missense_variant	1717/2028	1665/1764	555/587	E/D	gaA/gaC		1		-1	GAB3	HGNC	HGNC:17515	protein_coding	YES	CCDS48198.1	ENSP00000399588	Q8WWW8		UPI0000F23D6F	NM_001081573.2	tolerated(0.53)		10/10		hmmpanther:PTHR12156:SF2,hmmpanther:PTHR12156																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	87	154678277	154678277	T	G	1	0	0	0	0	1	0	0	0	6021	1606	56	5		5	GAB3	23	154678277	Missense_Mutation	SNP	T	C3N-02003_TP	142987	154678277	1362618	334	28714											
BLZF1	0	.	GRCh38	chr1	169376943	169376943	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaggttactacaggacaaAgaaggtctttcaaaccagct	16	8	9	8	0	2	2	1	0	1	2	2	3	2	3	1	3	4	2	1	3	6	3	novel		C3N-02067_TP	C3N-02067_NB	A	A																c.432A>C	p.Lys144Asn	p.K144N	ENST00000367808	3/7	260	234	26	126	126	0	strelka-varscan-mutect	BLZF1,missense_variant,p.Lys144Asn,ENST00000367808,NM_001320973.1;BLZF1,missense_variant,p.Lys144Asn,ENST00000329281,NM_003666.2;BLZF1,missense_variant,p.Lys144Asn,ENST00000367807,NM_001320972.1;BLZF1,missense_variant,p.Lys144Asn,ENST00000426663,;BLZF1,downstream_gene_variant,,ENST00000420531,;	C	ENST00000367808	Transcript	missense_variant	855/2749	432/1203	144/400	K/N	aaA/aaC		1		1	BLZF1	HGNC	HGNC:1065	protein_coding	YES	CCDS1278.1	ENSP00000356782	Q9H2G9	A0A024R921	UPI000003B44E	NM_001320973.1	deleterious(0)		3/7		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13066,hmmpanther:PTHR13066:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	88	169376943	169376943	A	C	1	0	0	0	0	1	0	0	0	1608	69	3	5		5	BLZF1	1	169376943	Missense_Mutation	SNP	A	C3N-02067_TP		169376943	79579479	1	28715											
PROM2	0	.	GRCh38	chr2	95279001	95279009	+	In_Frame_Del	DEL	GGCCCAGCA	GGCCCAGCA	-																															gcagagctgaagaaggcagtGgcccagcagccggaaggggt																								novel		C3N-02067_TP	C3N-02067_NB	GGCCCAGCA	GGCCCAGCA																c.1132_1140delGCCCAGCAG	p.Ala378_Gln380del	p.A378_Q380del	ENST00000317620	10/24	80	73	7	58	58	0	sindel-pindel	PROM2,inframe_deletion,p.Ala378_Gln380del,ENST00000317620,NM_001165978.1;PROM2,inframe_deletion,p.Ala378_Gln380del,ENST00000317668,NM_144707.2;PROM2,inframe_deletion,p.Ala378_Gln380del,ENST00000403131,NM_001165977.1;PROM2,downstream_gene_variant,,ENST00000463580,;PROM2,upstream_gene_variant,,ENST00000497110,;PROM2,downstream_gene_variant,,ENST00000477767,;PROM2,3_prime_UTR_variant,,ENST00000431567,NM_001321070.1;PROM2,non_coding_transcript_exon_variant,,ENST00000487138,;PROM2,non_coding_transcript_exon_variant,,ENST00000478295,;	-	ENST00000317620	Transcript	inframe_deletion	1264-1272/4728	1131-1139/2505	377-380/834	VAQQ/V	gtGGCCCAGCAg/gtg		1		1	PROM2	HGNC	HGNC:20685	protein_coding	YES	CCDS2012.1	ENSP00000318270	Q8N271		UPI0000071157	NM_001165978.1			10/24		hmmpanther:PTHR22730:SF6,hmmpanther:PTHR22730,Pfam_domain:PF05478																	MODERATE	1	deletion	1	1		1										PASS		.	.												-	7	5	88	95279001	95279001	GGCCCAGCA	-	1	0	1	0	1	0	0	0	0	12688	1335	47	0		0	PROM2	2	95279001	In_Frame_Del	DEL	GGCCCAGCA	C3N-02067_TP		95279001	146914528	2	28716											
PAX3	0	.	GRCh38	chr2	222202111	222202111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtggtggtaggttccagaCccccggtgagaggggagagc	7	6	18	10	2	0	3	0	1	0	3	1	5	1	3	4	6	1	2	4	6	1	2	rs778236891		C3N-02067_TP	C3N-02067_NB	C	C																c.1253G>T	p.Gly418Val	p.G418V	ENST00000392069	8/10	317	296	21	303	302	1	strelka-varscan-mutect	PAX3,missense_variant,p.Gly418Val,ENST00000350526,NM_181457.3;PAX3,missense_variant,p.Gly418Val,ENST00000392069,NM_181459.3;PAX3,missense_variant,p.Gly418Val,ENST00000392070,NM_181458.3;PAX3,missense_variant,p.Gly417Val,ENST00000409551,NM_001127366.2;PAX3,intron_variant,,ENST00000344493,NM_181461.3;PAX3,intron_variant,,ENST00000336840,NM_181460.3;PAX3,non_coding_transcript_exon_variant,,ENST00000464706,;PAX3,downstream_gene_variant,,ENST00000555548,;	A	ENST00000392069	Transcript	missense_variant	1619/3170	1253/1518	418/505	G/V	gGt/gTt	rs778236891,COSM5669647,COSM5669648	1		-1	PAX3	HGNC	HGNC:8617	protein_coding	YES	CCDS2448.1	ENSP00000375921	P23760		UPI00001A8BF0	NM_181459.3	deleterious_low_confidence(0)		8/10		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF307											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		.	.												A	3	1	88	222202111	222202111	C	A	1	0	0	0	0	1	0	0	0	11565	507	18	2		2	PAX3	2	222202111	Missense_Mutation	SNP	C	C3N-02067_TP	126923110	222202111	19991418	3	28717											
DOCK3	0	.	GRCh38	chr3	51312886	51312886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggcctatgaactgttcagCatgtggcagaatttgggtag	10	12	13	6	0	1	2	1	1	0	1	1	2	1	2	1	3	2	4	1	3	4	4	novel		C3N-02067_TP	C3N-02067_NB	C	C																c.3237C>T	p.=	p.S1079S	ENST00000266037	31/53	171	151	20	164	164	0	strelka-varscan-mutect	DOCK3,synonymous_variant,p.=,ENST00000266037,NM_004947.4;	T	ENST00000266037	Transcript	synonymous_variant	3260/8755	3237/6093	1079/2030	S	agC/agT		1		1	DOCK3	HGNC	HGNC:2989	protein_coding	YES	CCDS46835.1	ENSP00000266037	Q8IZD9		UPI000007412C	NM_004947.4			31/53		hmmpanther:PTHR23317:SF66,hmmpanther:PTHR23317,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	88	51312886	51312886	C	T	1	0	0	0	0	0	0	0	1	4503	709	25	3		3	DOCK3	3	51312886	Silent	SNP	C	C3N-02067_TP		51312886	146982673	4	28718											
ZNF639	0	.	GRCh38	chr3	179329708	179329712	+	Frame_Shift_Del	DEL	TAAAA	TAAAA	-																															ttctatgagacagccagattTaaaatattttgacaacaaag																								novel		C3N-02067_TP	C3N-02067_NB	TAAAA	TAAAA																c.151_155delAAATA	p.Lys51PhefsTer2	p.K51Ffs*2	ENST00000326361	5/7	175	166	9	103	103	0	varindel-pindel	ZNF639,frameshift_variant,p.Lys51PhefsTer2,ENST00000326361,NM_016331.2;ZNF639,frameshift_variant,p.Lys51PhefsTer2,ENST00000496856,NM_001303426.1,NM_001303425.1;ZNF639,frameshift_variant,p.Lys51PhefsTer2,ENST00000484866,;ZNF639,frameshift_variant,p.Lys51PhefsTer2,ENST00000621687,;ZNF639,frameshift_variant,p.Lys51PhefsTer2,ENST00000491818,;ZNF639,frameshift_variant,p.Lys51PhefsTer2,ENST00000466264,;ZNF639,frameshift_variant,p.Lys51PhefsTer2,ENST00000481587,;ZNF639,frameshift_variant,p.Lys51PhefsTer2,ENST00000494234,;ZNF639,non_coding_transcript_exon_variant,,ENST00000466663,;ZNF639,non_coding_transcript_exon_variant,,ENST00000483460,;	-	ENST00000326361	Transcript	frameshift_variant	594-598/6064	149-153/1458	50-51/485	LK/X	tTAAAA/t		1		1	ZNF639	HGNC	HGNC:30950	protein_coding	YES	CCDS3227.1	ENSP00000325634	Q9UID6		UPI000003EA4C	NM_016331.2			5/7		hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF35																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	88	179329708	179329708	TAAAA	-	1	0	1	0	1	0	0	0	0	18631	1764	61	0		0	ZNF639	3	179329708	Frame_Shift_Del	DEL	TAAAA	C3N-02067_TP	128016822	179329708	18965851	5	28719											
FAM47E	0	.	GRCh38	chr4	76256230	76256230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccacctctctgcacagcCggcagttggtatttccaaga	8	10	8	15	1	1	1	0	0	1	1	4	1	3	1	5	2	2	4	5	2	2	3	rs371047529		C3N-02067_TP	C3N-02067_NB	C	C																c.127C>T	p.Arg43Trp	p.R43W	ENST00000515604	2/7	179	165	14	154	154	0	strelka-varscan-mutect	FAM47E-STBD1,missense_variant,p.Arg43Trp,ENST00000515604,NM_001242939.1;FAM47E,missense_variant,p.Arg43Trp,ENST00000424749,NM_001136570.2;FAM47E,intron_variant,,ENST00000502320,;FAM47E,intron_variant,,ENST00000510197,NM_001242936.1;FAM47E,intron_variant,,ENST00000510328,;FAM47E,intron_variant,,ENST00000512895,;FAM47E,upstream_gene_variant,,ENST00000606246,;FAM47E,non_coding_transcript_exon_variant,,ENST00000515589,;FAM47E-STBD1,intron_variant,,ENST00000509377,;FAM47E-STBD1,intron_variant,,ENST00000514365,;	T	ENST00000515604	Transcript	missense_variant	153/3029	127/1056	43/351	R/W	Cgg/Tgg	rs371047529,COSM5645239,COSM5645240	1		1	FAM47E-STBD1	HGNC	HGNC:44667	protein_coding	YES	CCDS58908.1	ENSP00000422067			UPI0000EE2C6D	NM_001242939.1	deleterious(0)		2/7		Pfam_domain:PF14642,hmmpanther:PTHR11064,hmmpanther:PTHR11064:SF22											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		rs371047529	.												T	3	4	88	76256230	76256230	C	T	1	0	0	0	0	1	0	0	0	5450	643	23	1		1	FAM47E	4	76256230	Missense_Mutation	SNP	C	C3N-02067_TP		76256230	113958325	6	28720											
FCHO2	0	.	GRCh38	chr5	73017228	73017228	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataggtccatgaagaatttaTaaataacatggctaatacta	18	12	6	5	0	0	2	0	1	0	1	1	2	1	2	1	2	2	1	1	2	10	8	novel		C3N-02067_TP	C3N-02067_NB	T	T																c.716T>G	p.Ile239Arg	p.I239R	ENST00000430046	8/26	161	131	30	111	110	1	strelka-varscan-mutect	FCHO2,missense_variant,p.Ile239Arg,ENST00000430046,NM_138782.2;FCHO2,missense_variant,p.Ile206Arg,ENST00000512348,NM_001146032.1;FCHO2,missense_variant,p.Ile239Arg,ENST00000287761,;FCHO2,missense_variant,p.Ile214Arg,ENST00000507345,;CTC-250P20.1,downstream_gene_variant,,ENST00000502452,;	G	ENST00000430046	Transcript	missense_variant	832/4981	716/2433	239/810	I/R	aTa/aGa		1		1	FCHO2	HGNC	HGNC:25180	protein_coding	YES	CCDS47230.1	ENSP00000393776	Q0JRZ9		UPI000019971A	NM_138782.2	tolerated(0.07)		8/26		PROSITE_profiles:PS51741,hmmpanther:PTHR23065:SF8,hmmpanther:PTHR23065,Superfamily_domains:SSF103657																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	88	73017228	73017228	T	G	1	0	0	0	0	1	0	0	0	5650	1406	49	5		5	FCHO2	5	73017228	Missense_Mutation	SNP	T	C3N-02067_TP		73017228	108521031	7	28721											
PCDHB16	0	.	GRCh38	chr5	141182754	141182754	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgtccacccgcaaggccagGatcatttcccaggggaacaa	12	6	10	13	1	1	0	1	0	0	0	3	2	3	2	4	4	1	1	4	4	3	1	rs782507416		C3N-02067_TP	C3N-02067_NB	G	G																c.195G>C	p.Arg65Ser	p.R65S	ENST00000609684	1/1	98	86	12	56	56	0	strelka-varscan-mutect	PCDHB16,missense_variant,p.Arg65Ser,ENST00000609684,NM_020957.3;PCDHB16,intron_variant,,ENST00000625044,;CH17-140K24.5,intron_variant,,ENST00000623884,;PCDHB9,upstream_gene_variant,,ENST00000316105,NM_019119.4;PCDHB8,downstream_gene_variant,,ENST00000239444,NM_019120.4;PCDHB9,upstream_gene_variant,,ENST00000624909,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,downstream_gene_variant,,ENST00000624549,;CH17-140K24.7,downstream_gene_variant,,ENST00000624089,;PCDHB9,upstream_gene_variant,,ENST00000623266,;CH17-140K24.4,downstream_gene_variant,,ENST00000623995,;CH17-140K24.5,intron_variant,,ENST00000623407,;	C	ENST00000609684	Transcript	missense_variant	1356/5001	195/2331	65/776	R/S	agG/agC	rs782507416	1		1	PCDHB16	HGNC	HGNC:14546	protein_coding	YES	CCDS4251.1	ENSP00000477314	Q9NRJ7		UPI00001273E9	NM_020957.3	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,Pfam_domain:PF08266,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		rs782507416	.												C	3	2	88	141182754	141182754	G	C	1	0	0	0	0	1	0	0	0	11628	1165	41	4		4	PCDHB16	5	141182754	Missense_Mutation	SNP	G	C3N-02067_TP	68165526	141182754	40355505	8	28722											
MAPK9	0	.	GRCh38	chr5	180280543	180280543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacactataaaactgactgtCacatttactgtcgctcatga	13	12	5	11	1	2	2	2	2	0	0	3	2	2	2	0	0	2	1	0	0	4	4	novel		C3N-02067_TP	C3N-02067_NB	C	C																c.19G>A	p.Asp7Asn	p.D7N	ENST00000452135	2/12	184	173	11	116	115	1	strelka-mutect	MAPK9,missense_variant,p.Asp7Asn,ENST00000452135,NM_002752.4;MAPK9,missense_variant,p.Asp7Asn,ENST00000343111,NM_139069.2;MAPK9,missense_variant,p.Asp7Asn,ENST00000455781,NM_139070.2;MAPK9,missense_variant,p.Asp7Asn,ENST00000393360,NM_139068.2;MAPK9,missense_variant,p.Asp7Asn,ENST00000425491,NM_001135044.1;MAPK9,missense_variant,p.Asp7Asn,ENST00000539014,NM_001308244.1;MAPK9,missense_variant,p.Asp7Asn,ENST00000347470,;MAPK9,missense_variant,p.Asp7Asn,ENST00000397072,;MAPK9,missense_variant,p.Asp7Asn,ENST00000523583,;MAPK9,missense_variant,p.Asp7Asn,ENST00000393362,;	T	ENST00000452135	Transcript	missense_variant	318/4815	19/1275	7/424	D/N	Gac/Aac		1		-1	MAPK9	HGNC	HGNC:6886	protein_coding	YES	CCDS4453.1	ENSP00000394560	P45984		UPI000006E3AD	NM_002752.4	tolerated(0.24)		2/12		hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF172																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	88	180280543	180280543	C	T	1	0	0	0	0	1	0	0	0	9211	826	29	3		3	MAPK9	5	180280543	Missense_Mutation	SNP	C	C3N-02067_TP	39097789	180280543	1257716	9	28723											
CUL7	0	.	GRCh38	chr6	43051710	43051710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggctgtcaaaatccaggtGtttctcaatggcttcttgtt	7	15	10	9	1	3	0	2	0	2	0	5	0	4	0	1	3	0	4	1	3	3	4	novel		C3N-02067_TP	C3N-02067_NB	G	G																c.886C>T	p.His296Tyr	p.H296Y	ENST00000535468	3/26	707	658	49	489	489	0	strelka-varscan-mutect	CUL7,missense_variant,p.His296Tyr,ENST00000535468,NM_001168370.1;CUL7,missense_variant,p.His212Tyr,ENST00000265348,NM_014780.4;MRPL2,downstream_gene_variant,,ENST00000388752,NM_015950.4;MRPL2,downstream_gene_variant,,ENST00000230413,NM_001300848.1;MRPL2,downstream_gene_variant,,ENST00000489623,;CUL7,upstream_gene_variant,,ENST00000478630,;KLC4,intron_variant,,ENST00000467906,;MRPL2,downstream_gene_variant,,ENST00000491898,;MRPL2,downstream_gene_variant,,ENST00000470667,;MRPL2,downstream_gene_variant,,ENST00000480286,;MRPL2,downstream_gene_variant,,ENST00000485654,;	A	ENST00000535468	Transcript	missense_variant	973/5504	886/5349	296/1782	H/Y	Cac/Tac		1		-1	CUL7	HGNC	HGNC:21024	protein_coding	YES	CCDS55003.1	ENSP00000438788	Q14999		UPI0001BE8116	NM_001168370.1	deleterious(0.01)		3/26		hmmpanther:PTHR22771,hmmpanther:PTHR22771:SF3																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	88	43051710	43051710	G	A	1	0	0	0	0	1	0	0	0	3870	1377	48	3		3	CUL7	6	43051710	Missense_Mutation	SNP	G	C3N-02067_TP		43051710	127754269	10	28724											
CD109	0	.	GRCh38	chr6	73823498	73823498	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaactctgaagtgaagctGtcctcctgtgacctttgcag	9	12	9	11	0	1	3	0	3	1	0	3	3	3	3	3	0	4	2	3	0	4	2	novel		C3N-02067_TP	C3N-02067_NB	G	G																c.4203G>T	p.=	p.L1401L	ENST00000287097	33/33	148	139	9	119	119	0	strelka-varscan-mutect	CD109,synonymous_variant,p.=,ENST00000437994,NM_001159587.2;CD109,synonymous_variant,p.=,ENST00000422508,NM_001159588.2;CD109,synonymous_variant,p.=,ENST00000287097,NM_133493.4;	T	ENST00000287097	Transcript	synonymous_variant	4315/9130	4203/4338	1401/1445	L	ctG/ctT		1		1	CD109	HGNC	HGNC:21685	protein_coding	YES	CCDS4982.1	ENSP00000287097	Q6YHK3		UPI000013DE92	NM_133493.4			33/33		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF80,Superfamily_domains:SSF49410																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	88	73823498	73823498	G	T	1	0	0	0	0	0	0	0	1	2666	1364	48	2		2	CD109	6	73823498	Silent	SNP	G	C3N-02067_TP	30771788	73823498	96982481	11	28725											
GET4	0	.	GRCh38	chr7	887460	887460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgaagtggtccagtggggGctccgggaagctgggccacc	6	6	17	12	1	0	1	0	1	0	0	2	2	2	2	5	5	1	2	5	5	2	0	rs772387849		C3N-02067_TP	C3N-02067_NB	G	G																c.407G>A	p.Gly136Asp	p.G136D	ENST00000265857	4/9	44	40	4	29	29	0	strelka-mutect	GET4,missense_variant,p.Gly83Asp,ENST00000407192,;GET4,missense_variant,p.Gly136Asp,ENST00000265857,NM_015949.2;GET4,missense_variant,p.Gly83Asp,ENST00000412734,;GET4,missense_variant,p.Gly148Asp,ENST00000441491,;GET4,missense_variant,p.Gly97Asp,ENST00000426056,;RP11-449P15.2,upstream_gene_variant,,ENST00000609998,;SUN1,3_prime_UTR_variant,,ENST00000457861,;GET4,upstream_gene_variant,,ENST00000464468,;GET4,upstream_gene_variant,,ENST00000483469,;	A	ENST00000265857	Transcript	missense_variant	501/2090	407/984	136/327	G/D	gGc/gAc	rs772387849	1		1	GET4	HGNC	HGNC:21690	protein_coding	YES	CCDS5317.1	ENSP00000265857	Q7L5D6		UPI00001AE543	NM_015949.2	tolerated(0.61)		4/9		Low_complexity_(Seg):seg,hmmpanther:PTHR12875:SF0,hmmpanther:PTHR12875,Pfam_domain:PF04190																	MODERATE	1	SNV	1			1										PASS		rs772387849	.												A	3	1	88	887460	887460	G	A	1	0	0	0	0	1	0	0	0	6210	1203	42	3		3	GET4	7	887460	Missense_Mutation	SNP	G	C3N-02067_TP		887460	158458513	12	28726											
ABCB5	0	.	GRCh38	chr7	20723035	20723035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaacaggttccaggattgGcgtcttaacacaaaatgcaa	14	8	10	9	1	1	0	0	0	1	0	2	1	2	1	1	4	3	3	1	4	5	3	novel		C3N-02067_TP	C3N-02067_NB	G	G																c.2441G>A	p.Gly814Asp	p.G814D	ENST00000404938	21/28	320	304	16	205	205	0	strelka-varscan-mutect	ABCB5,missense_variant,p.Gly814Asp,ENST00000404938,NM_001163941.1;ABCB5,missense_variant,p.Gly369Asp,ENST00000258738,NM_178559.5;ABCB5,upstream_gene_variant,,ENST00000441315,;	A	ENST00000404938	Transcript	missense_variant	3093/5811	2441/3774	814/1257	G/D	gGc/gAc		1		1	ABCB5	HGNC	HGNC:46	protein_coding	YES	CCDS55090.1	ENSP00000384881	Q2M3G0		UPI000173A253	NM_001163941.1	deleterious(0)		21/28		Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF217,Superfamily_domains:SSF90123																	MODERATE	1	SNV	1			1										PASS		rs1486643794	.												A	3	1	88	20723035	20723035	G	A	1	0	0	0	0	1	0	0	0	48	1203	42	3		3	ABCB5	7	20723035	Missense_Mutation	SNP	G	C3N-02067_TP	19835575	20723035	138622938	13	28727											
CCDC129	0	.	GRCh38	chr7	31643366	31643366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgaaaagctcattcccCacctccataaactgcctgga	12	9	5	15	0	2	1	1	1	1	0	4	2	4	2	5	1	3	1	5	1	4	2	novel		C3N-02067_TP	C3N-02067_NB	C	C																c.2074C>T	p.His692Tyr	p.H692Y	ENST00000451887	11/15	489	414	75	358	358	0	strelka-varscan-mutect	CCDC129,missense_variant,p.His518Tyr,ENST00000319386,;CCDC129,missense_variant,p.His676Tyr,ENST00000615280,NM_001257967.1;CCDC129,missense_variant,p.His574Tyr,ENST00000409210,;CCDC129,missense_variant,p.His692Tyr,ENST00000451887,NM_001257968.1;CCDC129,missense_variant,p.His666Tyr,ENST00000407970,NM_194300.3;	T	ENST00000451887	Transcript	missense_variant	2168/3611	2074/3189	692/1062	H/Y	Cac/Tac		1		1	CCDC129	HGNC	HGNC:27363	protein_coding	YES	CCDS59050.1	ENSP00000395835	Q6ZRS4		UPI00020655D9	NM_001257968.1	tolerated(0.16)		11/15		hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF14																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	88	31643366	31643366	C	T	1	0	0	0	0	1	0	0	0	2456	594	21	3		3	CCDC129	7	31643366	Missense_Mutation	SNP	C	C3N-02067_TP	10920331	31643366	127702607	14	28728											
EEPD1	0	.	GRCh38	chr7	36287737	36287737	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatcacagtgatggccaccgGttggcgagctttgcacagac	10	8	12	11	2	1	2	1	1	0	1	1	3	1	2	2	3	2	3	2	3	1	2	novel		C3N-02067_TP	C3N-02067_NB	G	G																c.1275G>A	p.=	p.R425R	ENST00000242108	6/8	256	182	74	159	159	0	strelka-varscan-mutect	EEPD1,synonymous_variant,p.=,ENST00000242108,NM_030636.2;EEPD1,synonymous_variant,p.=,ENST00000534978,;EEPD1,non_coding_transcript_exon_variant,,ENST00000487069,;EEPD1,non_coding_transcript_exon_variant,,ENST00000468591,;	A	ENST00000242108	Transcript	synonymous_variant	1993/4765	1275/1710	425/569	R	cgG/cgA		1		1	EEPD1	HGNC	HGNC:22223	protein_coding	YES	CCDS34619.1	ENSP00000242108	Q7L9B9		UPI000020ED9D	NM_030636.2			6/8		hmmpanther:PTHR21180:SF32,hmmpanther:PTHR21180,Gene3D:3.60.10.10,Pfam_domain:PF03372,Superfamily_domains:SSF56219																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	88	36287737	36287737	G	A	1	0	0	0	0	0	0	0	1	4763	1248	44	3		3	EEPD1	7	36287737	Silent	SNP	G	C3N-02067_TP	4644371	36287737	123058236	15	28729											
EGFR	0	.	GRCh38	chr7	55174775	55174786	+	In_Frame_Del	DEL	ATTAAGAGAAGC	ATTAAGAGAAGC	-																															attcccgtcgctatcaaggaAttaagagaagcaacatctcc																										C3N-02067_TP	C3N-02067_NB	ATTAAGAGAAGC	ATTAAGAGAAGC																c.2239_2250delTTAAGAGAAGCA	p.Leu747_Ala750del	p.L747_A750del	ENST00000275493	19/28	581	433	148	438	438	0	sindel-varindel	EGFR,inframe_deletion,p.Leu747_Ala750del,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Leu702_Ala705del,ENST00000454757,;EGFR,inframe_deletion,p.Leu702_Ala705del,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	-	ENST00000275493	Transcript	inframe_deletion	2415-2426/9821	2238-2249/3633	746-750/1210	ELREA/E	gaATTAAGAGAAGCa/gaa	COSM18428	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112											1						MODERATE	1	deletion	1	1	1	1										PASS		.	.												-	7	5	88	55174775	55174775	ATTAAGAGAAGC	-	1	0	1	0	1	0	0	0	0	4803	98	4	0		0	EGFR	7	55174775	In_Frame_Del	DEL	ATTAAGAGAAGC	C3N-02067_TP	18887038	55174775	104171198	16	28730			1	25		3	2	16	N	ATTAAGAGAAGC_A	1.797108e-05
EGFR	0	.	GRCh38	chr7	55174788	55174788	+	Missense_Mutation	SNP	A	A	C																															tcaaggaattaagagaagcaAcatctccgaaagccaacaag																								novel		C3N-02067_TP	C3N-02067_NB	A	A																c.2251A>C	p.Thr751Pro	p.T751P	ENST00000275493	19/28	587	436	151	415	414	1	strelka-varscan-mutect	EGFR,missense_variant,p.Thr751Pro,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Thr706Pro,ENST00000454757,;EGFR,missense_variant,p.Thr706Pro,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	C	ENST00000275493	Transcript	missense_variant	2428/9821	2251/3633	751/1210	T/P	Aca/Cca		1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0.02)		19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs397517100	.												C	3	2	88	55174788	55174788	A	C	1	0	0	0	0	1	0	0	0	4803	43	2	5		5	EGFR	7	55174788	Missense_Mutation	SNP	A	C3N-02067_TP	13	55174788	104171185	17	28731	604	2	1	25		3	2	16	N	ATTAAGAGAAGC_A	1.797108e-05
EGFR	0	.	GRCh38	chr7	55174790	55174790	+	Silent	SNP	A	A	T																															aaggaattaagagaagcaacAtctccgaaagccaacaagga																								novel		C3N-02067_TP	C3N-02067_NB	A	A																c.2253A>T	p.=	p.T751T	ENST00000275493	19/28	590	434	156	415	415	0	strelka-varscan-mutect	EGFR,synonymous_variant,p.=,ENST00000275493,NM_005228.3;EGFR,synonymous_variant,p.=,ENST00000454757,;EGFR,synonymous_variant,p.=,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	T	ENST00000275493	Transcript	synonymous_variant	2430/9821	2253/3633	751/1210	T	acA/acT		1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		rs121913463	.												T	2	4	88	55174790	55174790	A	T	1	0	0	0	0	0	0	0	1	4803	204	8	4		4	EGFR	7	55174790	Silent	SNP	A	C3N-02067_TP	2	55174790	104171183	18	28732	604	2	1	25		3	2	16	N	ATTAAGAGAAGC_A	1.797108e-05
OR2A42	0	.	GRCh38	chr7	144232398	144232398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccaggagggagccacacGtccaggaagtgacggccagg	11	2	17	11	2	0	1	0	1	0	0	1	5	1	4	4	5	2	0	4	5	1	0	novel		C3N-02067_TP	C3N-02067_NB	G	G																c.446C>A	p.Thr149Lys	p.T149K	ENST00000391496	1/1	98	86	12	71	71	0	varscan-mutect	OR2A42,missense_variant,p.Thr149Lys,ENST00000391496,NM_001001802.2;RP4-545C24.1,intron_variant,,ENST00000498693,;RP4-545C24.1,intron_variant,,ENST00000464929,;RP4-545C24.1,intron_variant,,ENST00000460955,;RP4-545C24.1,intron_variant,,ENST00000493248,;RP4-545C24.1,intron_variant,,ENST00000489077,;RP4-545C24.1,intron_variant,,ENST00000477797,;RP4-545C24.1,downstream_gene_variant,,ENST00000480074,;	T	ENST00000391496	Transcript	missense_variant	446/933	446/933	149/310	T/K	aCg/aAg		1		-1	OR2A42	HGNC	HGNC:31230	protein_coding	YES	CCDS56515.1	ENSP00000375334	Q8NGT9		UPI0000041DF3	NM_001001802.2	deleterious(0.01)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF115,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs1192475502	.												T	3	4	88	144232398	144232398	G	T	1	0	0	0	0	1	0	0	0	11057	1145	40	1		1	OR2A42	7	144232398	Missense_Mutation	SNP	G	C3N-02067_TP	89057608	144232398	15113575	19	28733											
FAM135B	0	.	GRCh38	chr8	138153001	138153001	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattcagagcacatgtccaTatgattttgtgtggccacat	11	13	9	8	0	1	3	1	1	0	2	2	3	2	3	2	1	1	1	2	1	1	4	rs759360519		C3N-02067_TP	C3N-02067_NB	T	T																c.1474A>G	p.Met492Val	p.M492V	ENST00000395297	13/20	276	208	68	177	177	0	strelka-varscan-mutect	FAM135B,missense_variant,p.Met492Val,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Met492Val,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000467365,;FAM135B,upstream_gene_variant,,ENST00000395295,;	C	ENST00000395297	Transcript	missense_variant	1645/6962	1474/4221	492/1406	M/V	Atg/Gtg	rs759360519	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	tolerated(0.87)		13/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482																	MODERATE	1	SNV	5			1										PASS		rs759360519	.												C	3	2	88	138153001	138153001	T	C	1	0	0	0	0	1	0	0	0	5299	1406	49	5		5	FAM135B	8	138153001	Missense_Mutation	SNP	T	C3N-02067_TP		138153001	6985635	20	28734											
GRIN3A	0	.	GRCh38	chr9	101737815	101737815	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcggtggtccagggctgCaagtgcaccgcgcccaccct	5	5	16	15	3	0	0	0	0	0	0	1	0	1	0	4	5	2	3	4	5	1	0	novel		C3N-02067_TP	C3N-02067_NB	C	C																c.165G>T	p.Leu55Phe	p.L55F	ENST00000361820	1/9	141	133	8	165	165	0	strelka-varscan-mutect	GRIN3A,missense_variant,p.Leu55Phe,ENST00000361820,NM_133445.2;	A	ENST00000361820	Transcript	missense_variant	766/7770	165/3348	55/1115	L/F	ttG/ttT		1		-1	GRIN3A	HGNC	HGNC:16767	protein_coding	YES	CCDS6758.1	ENSP00000355155	Q8TCU5		UPI0000367661	NM_133445.2	deleterious_low_confidence(0.01)		1/9		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	88	101737815	101737815	C	A	1	0	0	0	0	1	0	0	0	6665	709	25	2		2	GRIN3A	9	101737815	Missense_Mutation	SNP	C	C3N-02067_TP		101737815	36656902	21	28735											
NUP160	0	.	GRCh38	chr11	47798219	47798219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catatgcttggctattgtgaCccaaatccaaatgatgtttg	11	14	8	8	0	0	2	0	2	0	0	1	2	1	2	2	1	1	3	2	1	4	5	novel		C3N-02067_TP	C3N-02067_NB	C	C																c.3035G>T	p.Gly1012Val	p.G1012V	ENST00000378460	25/36	175	160	15	122	122	0	strelka-varscan-mutect	NUP160,missense_variant,p.Gly1012Val,ENST00000378460,NM_015231.1;NUP160,missense_variant,p.Gly977Val,ENST00000530326,;NUP160,missense_variant,p.Gly984Val,ENST00000528071,;RP11-692M12.5,downstream_gene_variant,,ENST00000604478,;	A	ENST00000378460	Transcript	missense_variant	3082/5376	3035/4311	1012/1436	G/V	gGt/gTt		1		-1	NUP160	HGNC	HGNC:18017	protein_coding	YES	CCDS31484.1	ENSP00000367721	Q12769		UPI0000185FEB	NM_015231.1	deleterious(0)		25/36		hmmpanther:PTHR21286																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	88	47798219	47798219	C	A	1	0	0	0	0	1	0	0	0	10822	507	18	2		2	NUP160	11	47798219	Missense_Mutation	SNP	C	C3N-02067_TP		47798219	87288403	22	28736											
CATSPER1	0	.	GRCh38	chr11	66021817	66021817	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcccagggcgatgatctTgagcagggcttccaccacgt	8	7	14	12	2	1	2	0	2	1	0	2	4	2	2	3	3	1	2	3	3	0	2	novel		C3N-02067_TP	C3N-02067_NB	T	T																c.1492A>C	p.Lys498Gln	p.K498Q	ENST00000312106	3/12	530	419	111	477	477	0	strelka-varscan-mutect	CATSPER1,missense_variant,p.Lys498Gln,ENST00000312106,NM_053054.3;CATSPER1,upstream_gene_variant,,ENST00000529244,;	G	ENST00000312106	Transcript	missense_variant	1630/2619	1492/2343	498/780	K/Q	Aag/Cag		1		-1	CATSPER1	HGNC	HGNC:17116	protein_coding	YES	CCDS8127.1	ENSP00000309052	Q8NEC5		UPI000045651C	NM_053054.3	deleterious(0)		3/12		Transmembrane_helices:TMhelix,hmmpanther:PTHR10037:SF216,hmmpanther:PTHR10037,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	88	66021817	66021817	T	G	1	0	0	0	0	1	0	0	0	2387	1821	63	5		5	CATSPER1	11	66021817	Missense_Mutation	SNP	T	C3N-02067_TP	18223598	66021817	69064805	23	28737											
DYNC2H1	0	.	GRCh38	chr11	103253299	103253299	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaataggaccacgttatgtgGtacaaataggtgacaaaatt	17	10	9	5	1	0	1	0	1	0	0	0	2	0	2	1	3	1	2	1	3	8	5	novel		C3N-02067_TP	C3N-02067_NB	G	G																c.10078G>C	p.Val3360Leu	p.V3360L	ENST00000398093	67/90	105	99	6	72	72	0	strelka-varscan-mutect	DYNC2H1,missense_variant,p.Val3353Leu,ENST00000375735,NM_001377.2;DYNC2H1,missense_variant,p.Val3360Leu,ENST00000398093,NM_001080463.1;DYNC2H1,intron_variant,,ENST00000334267,;	C	ENST00000398093	Transcript	missense_variant	10078/12945	10078/12945	3360/4314	V/L	Gta/Cta		1		1	DYNC2H1	HGNC	HGNC:2962	protein_coding	YES	CCDS44717.1	ENSP00000381167	Q8NCM8		UPI0000481AC7	NM_001080463.1	deleterious(0.01)		67/90		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF282,Pfam_domain:PF12781																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	88	103253299	103253299	G	C	1	0	0	0	0	1	0	0	0	4670	1261	44	4		4	DYNC2H1	11	103253299	Missense_Mutation	SNP	G	C3N-02067_TP	37231482	103253299	31833323	24	28738											
PAX9	0	.	GRCh38	chr14	36666467	36666467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttctctccatcagtgagcGacagctccccctaccacagc	8	9	6	18	1	3	1	1	1	2	0	6	2	5	1	4	0	4	1	4	0	1	2	novel		C3N-02067_TP	C3N-02067_NB	G	G																c.637G>A	p.Asp213Asn	p.D213N	ENST00000361487	3/4	202	181	21	111	111	0	strelka-varscan-mutect	PAX9,missense_variant,p.Asp213Asn,ENST00000361487,;PAX9,missense_variant,p.Asp213Asn,ENST00000402703,NM_006194.3;PAX9,missense_variant,p.Asp26Asn,ENST00000554201,;PAX9,non_coding_transcript_exon_variant,,ENST00000557107,;PAX9,downstream_gene_variant,,ENST00000553267,;PAX9,downstream_gene_variant,,ENST00000555639,;	A	ENST00000361487	Transcript	missense_variant	862/4514	637/1026	213/341	D/N	Gac/Aac		1		1	PAX9	HGNC	HGNC:8623	protein_coding	YES	CCDS9662.1	ENSP00000355245	P55771	Q2L4T1	UPI0000131377		tolerated(0.18)		3/4		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF297																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	88	36666467	36666467	G	A	1	0	0	0	0	1	0	0	0	11571	1072	37	1		1	PAX9	14	36666467	Missense_Mutation	SNP	G	C3N-02067_TP		36666467	70377251	25	28739											
TM6SF1	0	.	GRCh38	chr15	83107724	83107724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcttcgtgctgtccctctCggccatcccggtcacctatg	3	12	10	16	3	3	0	1	0	2	0	7	0	5	0	4	3	1	1	4	3	1	2	rs780558833		C3N-02067_TP	C3N-02067_NB	C	C																c.44C>T	p.Ser15Leu	p.S15L	ENST00000322019	1/10	215	201	14	222	221	1	strelka-varscan-mutect	TM6SF1,missense_variant,p.Ser15Leu,ENST00000322019,NM_023003.3;TM6SF1,missense_variant,p.Ser15Leu,ENST00000379390,;TM6SF1,missense_variant,p.Ser15Leu,ENST00000565774,NM_001144903.1;TM6SF1,5_prime_UTR_variant,,ENST00000565982,;RP11-382A20.5,downstream_gene_variant,,ENST00000566841,;TM6SF1,non_coding_transcript_exon_variant,,ENST00000564988,;TM6SF1,missense_variant,p.Ser15Leu,ENST00000379384,;TM6SF1,missense_variant,p.Ser15Leu,ENST00000258909,;	T	ENST00000322019	Transcript	missense_variant	318/2074	44/1113	15/370	S/L	tCg/tTg	rs780558833,COSM3794466,COSM416787	1		1	TM6SF1	HGNC	HGNC:11860	protein_coding	YES	CCDS10323.1	ENSP00000317000	Q9BZW5		UPI0000039EA7	NM_023003.3	tolerated(0.41)		1/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR14568,hmmpanther:PTHR14568:SF10											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs780558833	.												T	3	4	88	83107724	83107724	C	T	1	0	0	0	0	1	0	0	0	16417	893	31	1		1	TM6SF1	15	83107724	Missense_Mutation	SNP	C	C3N-02067_TP		83107724	18883465	26	28740											
TP53	0	.	GRCh38	chr17	7674961	7674962	+	Frame_Shift_Ins	INS	-	-	G																															ctcggataagatgctgaggaINSggggccagacctaagagcaa																										C3N-02067_TP	C3N-02067_NB	-	-																c.569dupC	p.Pro191SerfsTer18	p.P191Sfs*18	ENST00000269305	6/11	435	260	175	399	399	0	sindel-varindel-pindel	TP53,frameshift_variant,p.Pro191SerfsTer18,ENST00000617185,NM_001126114.2;TP53,frameshift_variant,p.Pro191SerfsTer18,ENST00000420246,;TP53,frameshift_variant,p.Pro152SerfsTer18,ENST00000622645,NM_001276696.1;TP53,frameshift_variant,p.Pro152SerfsTer18,ENST00000610292,NM_001126118.1;TP53,frameshift_variant,p.Pro191SerfsTer18,ENST00000455263,NM_001126113.2;TP53,frameshift_variant,p.Pro152SerfsTer18,ENST00000610538,NM_001276695.1;TP53,frameshift_variant,p.Pro191SerfsTer18,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,frameshift_variant,p.Pro152SerfsTer18,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,frameshift_variant,p.Pro191SerfsTer18,ENST00000445888,;TP53,frameshift_variant,p.Pro152SerfsTer18,ENST00000619485,;TP53,frameshift_variant,p.Pro59SerfsTer18,ENST00000510385,NM_001126116.1;TP53,frameshift_variant,p.Pro32SerfsTer18,ENST00000618944,NM_001276698.1;TP53,frameshift_variant,p.Pro59SerfsTer18,ENST00000504290,NM_001126117.1;TP53,frameshift_variant,p.Pro32SerfsTer18,ENST00000610623,NM_001276699.1;TP53,frameshift_variant,p.Pro59SerfsTer18,ENST00000504937,NM_001126115.1;TP53,frameshift_variant,p.Pro32SerfsTer18,ENST00000619186,NM_001276697.1;TP53,frameshift_variant,p.Pro191SerfsTer18,ENST00000359597,;TP53,frameshift_variant,p.Pro180SerfsTer18,ENST00000615910,;TP53,frameshift_variant,p.Pro191SerfsTer18,ENST00000413465,;TP53,frameshift_variant,p.Pro59SerfsTer18,ENST00000509690,;TP53,frameshift_variant,p.Pro98SerfsTer18,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,frameshift_variant,p.Pro152SerfsTer18,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	G	ENST00000269305	Transcript	frameshift_variant	759-760/2579	569-570/1182	190/393	P/PX	cct/ccCt	TP53_g.12638_12639ins1	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5			6/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	88	7674961	7674961	-	G	1	0	1	1	0	0	0	0	0	16859	291	11	0		0	TP53	17	7674961	Frame_Shift_Ins	INS	-	C3N-02067_TP		7674961	75582480	27	28741											
SMCR8	0	.	GRCh38	chr17	18315915	18315915	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccttcgccagtcagggtgcTaacccctggtcaaaactgtc	8	9	9	15	1	2	0	2	0	0	0	4	0	2	0	4	2	3	1	4	2	3	2	novel		C3N-02067_TP	C3N-02067_NB	T	T																c.126T>A	p.=	p.A42A	ENST00000406438	1/2	251	197	54	182	182	0	strelka-varscan-mutect	SMCR8,synonymous_variant,p.=,ENST00000406438,NM_144775.2;TOP3A,upstream_gene_variant,,ENST00000542570,NM_004618.3;TOP3A,upstream_gene_variant,,ENST00000321105,;TOP3A,upstream_gene_variant,,ENST00000580095,;TOP3A,upstream_gene_variant,,ENST00000582230,;TOP3A,upstream_gene_variant,,ENST00000584669,;TOP3A,upstream_gene_variant,,ENST00000584887,;TOP3A,upstream_gene_variant,,ENST00000584582,;TOP3A,upstream_gene_variant,,ENST00000582981,;TOP3A,upstream_gene_variant,,ENST00000472959,;TOP3A,upstream_gene_variant,,ENST00000461127,;TOP3A,upstream_gene_variant,,ENST00000583328,;TOP3A,upstream_gene_variant,,ENST00000585031,;TOP3A,upstream_gene_variant,,ENST00000580713,;RPL7AP65,downstream_gene_variant,,ENST00000418183,;RPL21P121,downstream_gene_variant,,ENST00000439258,;	A	ENST00000406438	Transcript	synonymous_variant	606/8279	126/2814	42/937	A	gcT/gcA		1		1	SMCR8	HGNC	HGNC:17921	protein_coding	YES	CCDS11195.2	ENSP00000385025	Q8TEV9		UPI0000E0322D	NM_144775.2			1/2		hmmpanther:PTHR31334:SF1,hmmpanther:PTHR31334																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	88	18315915	18315915	T	A	1	0	0	0	0	0	0	0	1	15087	1509	53	4		4	SMCR8	17	18315915	Silent	SNP	T	C3N-02067_TP	10640954	18315915	64941526	28	28742											
KRT10	0	.	GRCh38	chr17	40819067	40819067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggaactgccgccgtggcCgccgccgtggccgccgccgg	2	3	17	19	9	0	0	0	0	0	0	0	1	0	1	9	4	2	0	9	4	1	0	rs753205769		C3N-02067_TP	C3N-02067_NB	C	C																c.1468G>A	p.Gly490Ser	p.G490S	ENST00000269576	7/8	143	135	8	214	212	2	varscan-mutect	KRT10,missense_variant,p.Gly490Ser,ENST00000269576,NM_000421.3;TMEM99,upstream_gene_variant,,ENST00000622451,NM_001195386.1;TMEM99,upstream_gene_variant,,ENST00000301665,NM_001195387.1,NM_145274.3;TMEM99,upstream_gene_variant,,ENST00000436612,;KRT10,upstream_gene_variant,,ENST00000635956,;TMEM99,upstream_gene_variant,,ENST00000496847,;	T	ENST00000269576	Transcript	missense_variant	1478/2124	1468/1755	490/584	G/S	Ggc/Agc	rs753205769	1		-1	KRT10	HGNC	HGNC:6413	protein_coding	YES	CCDS11377.1	ENSP00000269576	P13645		UPI000013D842	NM_000421.3	tolerated_low_confidence(0.69)		7/8		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF137,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs753205769	.												T	3	4	88	40819067	40819067	C	T	1	0	0	0	0	1	0	0	0	8330	652	23	1		1	KRT10	17	40819067	Missense_Mutation	SNP	C	C3N-02067_TP	22503152	40819067	42438374	29	28743											
SERPINB13	0	.	GRCh38	chr18	63588683	63588683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatggattcacttggcGccgtcagcactcgacttggg	7	11	11	12	3	4	0	4	0	0	0	5	2	4	1	1	3	1	1	1	3	0	3	rs191405968		C3N-02067_TP	C3N-02067_NB	G	G																c.16G>A	p.Ala6Thr	p.A6T	ENST00000269489	2/8	138	127	11	127	127	0	strelka-varscan-mutect	SERPINB13,missense_variant,p.Ala6Thr,ENST00000269489,NM_001307923.1;SERPINB13,missense_variant,p.Ala6Thr,ENST00000344731,NM_012397.3;SERPINB13,missense_variant,p.Ala36Thr,ENST00000431153,;SERPINB13,upstream_gene_variant,,ENST00000415733,;SERPINB13,missense_variant,p.Ala6Thr,ENST00000438844,;SERPINB13,non_coding_transcript_exon_variant,,ENST00000479842,;	A	ENST00000269489	Transcript	missense_variant	184/3206	16/1203	6/400	A/T	Gcc/Acc	rs191405968,COSM1737021	1		1	SERPINB13	HGNC	HGNC:8944	protein_coding	YES	CCDS77195.1	ENSP00000269489		A0A0A0MQW3	UPI000004EE0A	NM_001307923.1	tolerated(0.49)		2/8		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF161,Superfamily_domains:SSF56574											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs191405968	.												A	3	1	88	63588683	63588683	G	A	1	0	0	0	0	1	0	0	0	14376	1087	38	1		1	SERPINB13	18	63588683	Missense_Mutation	SNP	G	C3N-02067_TP		63588683	16784602	30	28744											
CBLN2	0	.	GRCh38	chr18	72542051	72542051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagtagcagcaacagcaggGccagcgccacccccaggcag	11	1	13	16	1	0	0	0	0	0	0	0	0	0	0	4	2	5	6	4	2	2	1	rs779844910		C3N-02067_TP	C3N-02067_NB	G	G																c.110C>T	p.Ala37Val	p.A37V	ENST00000269503	3/5	83	76	7	88	88	0	strelka-varscan-mutect	CBLN2,missense_variant,p.Ala37Val,ENST00000269503,NM_182511.3;CBLN2,missense_variant,p.Ala37Val,ENST00000585159,;CBLN2,intron_variant,,ENST00000584764,;CBLN2,intron_variant,,ENST00000581073,;CBLN2,intron_variant,,ENST00000583651,;CBLN2,downstream_gene_variant,,ENST00000580889,;CBLN2,upstream_gene_variant,,ENST00000581425,;	A	ENST00000269503	Transcript	missense_variant	884/2945	110/675	37/224	A/V	gCc/gTc	rs779844910,COSM5056115	1		-1	CBLN2	HGNC	HGNC:1544	protein_coding	YES	CCDS11999.1	ENSP00000269503	Q8IUK8	A0A024R380	UPI0000032E73	NM_182511.3	tolerated_low_confidence(0.24)		3/5		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR22923:SF50,hmmpanther:PTHR22923											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs779844910	.												A	3	1	88	72542051	72542051	G	A	1	0	0	0	0	1	0	0	0	2406	1203	42	3		3	CBLN2	18	72542051	Missense_Mutation	SNP	G	C3N-02067_TP	8953368	72542051	7831234	31	28745											
ABCA7	0	.	GRCh38	chr19	1058890	1058890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccgtgaacgggagcgggtgGtccaaggagccacccagggg	8	3	18	12	3	0	1	0	1	0	0	1	3	1	3	4	6	3	0	4	6	2	0	novel		C3N-02067_TP	C3N-02067_NB	G	G																c.5350G>C	p.Val1784Leu	p.V1784L	ENST00000263094	39/47	60	39	21	40	40	0	strelka-varscan-mutect	ABCA7,missense_variant,p.Val1784Leu,ENST00000263094,NM_019112.3;ABCA7,missense_variant,p.Val1784Leu,ENST00000433129,;ABCA7,missense_variant,p.Val1646Leu,ENST00000435683,;ABCA7,missense_variant,p.Val229Leu,ENST00000525073,;ABCA7,upstream_gene_variant,,ENST00000612569,;ABCA7,non_coding_transcript_exon_variant,,ENST00000532194,;ABCA7,downstream_gene_variant,,ENST00000530092,;ABCA7,downstream_gene_variant,,ENST00000529442,;ABCA7,upstream_gene_variant,,ENST00000525939,;	C	ENST00000263094	Transcript	missense_variant	5581/6816	5350/6441	1784/2146	V/L	Gtc/Ctc		1		1	ABCA7	HGNC	HGNC:37	protein_coding	YES	CCDS12055.1	ENSP00000263094	Q8IZY2		UPI000013D3A4	NM_019112.3	tolerated(1)		39/47		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	88	1058890	1058890	G	C	1	0	0	0	0	1	0	0	0	41	1261	44	4		4	ABCA7	19	1058890	Missense_Mutation	SNP	G	C3N-02067_TP		1058890	57558726	32	28746											
CATSPERD	0	.	GRCh38	chr19	5737193	5737193	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattgttgttatactggaagTttgttttgtgtggtaagtat	9	20	11	1	0	0	0	0	0	0	0	0	1	0	1	0	2	1	6	0	2	6	9			C3N-02067_TP	C3N-02067_NB	T	T																c.447T>C	p.=	p.S149S	ENST00000381624	6/22	198	142	56	172	172	0	strelka-varscan-mutect	CATSPERD,synonymous_variant,p.=,ENST00000381624,NM_152784.3;	C	ENST00000381624	Transcript	synonymous_variant	508/2516	447/2397	149/798	S	agT/agC	COSM4669487	1		1	CATSPERD	HGNC	HGNC:28598	protein_coding	YES	CCDS12149.2	ENSP00000371037	Q86XM0		UPI000059D641	NM_152784.3			6/22		Pfam_domain:PF15020,hmmpanther:PTHR33722,hmmpanther:PTHR33722:SF1											1						LOW	1	SNV	1		1	1										PASS		.	.												C	2	2	88	5737193	5737193	T	C	1	0	0	0	0	0	0	0	1	2392	1722	60	5		5	CATSPERD	19	5737193	Silent	SNP	T	C3N-02067_TP	4678303	5737193	52880423	33	28747											
TRMT1	0	.	GRCh38	chr19	13116230	13116230	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggcagccccctcggtgActgtcgtctcctggacttca	4	13	10	14	2	2	1	1	1	1	0	5	2	2	2	3	3	1	1	3	3	0	3	rs748103642		C3N-02067_TP	C3N-02067_NB	A	A																c.170T>G	p.Val57Gly	p.V57G	ENST00000592062	3/18	442	417	25	423	423	0	strelka-varscan-mutect	TRMT1,missense_variant,p.Val57Gly,ENST00000592062,;TRMT1,missense_variant,p.Val57Gly,ENST00000437766,NM_017722.3;TRMT1,missense_variant,p.Val57Gly,ENST00000221504,NM_001142554.1;TRMT1,missense_variant,p.Val57Gly,ENST00000357720,NM_001136035.2;TRMT1,missense_variant,p.Val57Gly,ENST00000592814,;TRMT1,missense_variant,p.Val57Gly,ENST00000588229,;TRMT1,intron_variant,,ENST00000587487,;NACC1,upstream_gene_variant,,ENST00000292431,NM_052876.3;NACC1,upstream_gene_variant,,ENST00000586171,;TRMT1,non_coding_transcript_exon_variant,,ENST00000592892,;TRMT1,non_coding_transcript_exon_variant,,ENST00000592729,;TRMT1,non_coding_transcript_exon_variant,,ENST00000588813,;TRMT1,non_coding_transcript_exon_variant,,ENST00000591425,;TRMT1,upstream_gene_variant,,ENST00000593257,;TRMT1,missense_variant,p.Val57Gly,ENST00000591717,;TRMT1,missense_variant,p.Val57Gly,ENST00000588746,;TRMT1,missense_variant,p.Val57Gly,ENST00000586224,;TRMT1,non_coding_transcript_exon_variant,,ENST00000588511,;TRMT1,non_coding_transcript_exon_variant,,ENST00000593157,;TRMT1,non_coding_transcript_exon_variant,,ENST00000585622,;TRMT1,non_coding_transcript_exon_variant,,ENST00000590812,;TRMT1,non_coding_transcript_exon_variant,,ENST00000592606,;TRMT1,upstream_gene_variant,,ENST00000587633,;	C	ENST00000592062	Transcript	missense_variant	741/2579	170/1980	57/659	V/G	gTc/gGc	rs748103642	1		-1	TRMT1	HGNC	HGNC:25980	protein_coding	YES	CCDS12293.1	ENSP00000466967	Q9NXH9	A0A024R7I5	UPI0000000A02		deleterious(0)		3/18		PROSITE_profiles:PS51626,hmmpanther:PTHR10631:SF3,hmmpanther:PTHR10631,Pfam_domain:PF02005,TIGRFAM_domain:TIGR00308,Superfamily_domains:SSF53335																	MODERATE		SNV	5			1										PASS		rs748103642	.												C	3	2	88	13116230	13116230	A	C	1	0	0	0	0	1	0	0	0	17060	275	10	5		5	TRMT1	19	13116230	Missense_Mutation	SNP	A	C3N-02067_TP	7379037	13116230	45501386	34	28748											
PDE4C	0	.	GRCh38	chr19	18213433	18213433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcaccttcttggtctccaCcatggtcttgaggtcggcca	5	13	10	13	1	4	1	1	1	3	0	6	1	4	1	4	4	0	0	4	4	0	3	novel		C3N-02067_TP	C3N-02067_NB	C	C																c.1543G>A	p.Val515Met	p.V515M	ENST00000355502	17/19	223	202	21	177	177	0	strelka-varscan-mutect	PDE4C,missense_variant,p.Val515Met,ENST00000355502,;PDE4C,missense_variant,p.Val515Met,ENST00000594617,NM_000923.4;PDE4C,missense_variant,p.Val515Met,ENST00000594465,;PDE4C,missense_variant,p.Val409Met,ENST00000447275,NM_001098819.2;PDE4C,missense_variant,p.Val483Met,ENST00000262805,NM_001098818.2;PDE4C,missense_variant,p.Val284Met,ENST00000539010,;PDE4C,missense_variant,p.Val285Met,ENST00000597297,;PDE4C,missense_variant,p.Val230Met,ENST00000598111,;AC068499.10,intron_variant,,ENST00000594805,;AC068499.10,downstream_gene_variant,,ENST00000599416,;PDE4C,3_prime_UTR_variant,,ENST00000599188,;PDE4C,non_coding_transcript_exon_variant,,ENST00000597360,;	T	ENST00000355502	Transcript	missense_variant	2415/5979	1543/2139	515/712	V/M	Gtg/Atg		1		-1	PDE4C	HGNC	HGNC:8782	protein_coding	YES	CCDS12373.1	ENSP00000347689	Q08493		UPI0000127BF8		deleterious(0)		17/19		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF106,Gene3D:1.10.1300.10,Pfam_domain:PF00233,SMART_domains:SM00471,Superfamily_domains:SSF109604																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	88	18213433	18213433	C	T	1	0	0	0	0	1	0	0	0	11729	507	18	3		3	PDE4C	19	18213433	Missense_Mutation	SNP	C	C3N-02067_TP	5097203	18213433	40404183	35	28749											
SIGLEC10	0	.	GRCh38	chr19	51416942	51416942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtagacatcaggcttctGagtcagggctgggacagaga	11	8	15	7	0	3	3	2	1	1	2	3	6	3	4	0	3	0	3	0	3	1	2	rs73049612		C3N-02067_TP	C3N-02067_NB	G	G																c.430C>A	p.Gln144Lys	p.Q144K	ENST00000339313	3/11	99	94	5	87	87	0	varscan-mutect	SIGLEC10,missense_variant,p.Gln144Lys,ENST00000353836,NM_001171157.1;SIGLEC10,missense_variant,p.Gln144Lys,ENST00000339313,NM_033130.4;SIGLEC10,missense_variant,p.Gln144Lys,ENST00000525998,;SIGLEC10,missense_variant,p.Gln111Lys,ENST00000530476,;SIGLEC10,intron_variant,,ENST00000441969,NM_001171159.1;SIGLEC10,intron_variant,,ENST00000442846,NM_001171161.1;SIGLEC10,intron_variant,,ENST00000439889,NM_001171156.1;SIGLEC10,intron_variant,,ENST00000436984,NM_001171158.1;SIGLEC10,intron_variant,,ENST00000529627,;CTD-2616J11.2,intron_variant,,ENST00000532688,;CTD-2616J11.2,downstream_gene_variant,,ENST00000526996,;CTD-2616J11.3,downstream_gene_variant,,ENST00000532473,;SIGLEC10,non_coding_transcript_exon_variant,,ENST00000357375,;SIGLEC10,non_coding_transcript_exon_variant,,ENST00000524527,;	T	ENST00000339313	Transcript	missense_variant	547/2256	430/2094	144/697	Q/K	Cag/Aag	rs73049612	1		-1	SIGLEC10	HGNC	HGNC:15620	protein_coding	YES	CCDS12832.1	ENSP00000345243	Q96LC7		UPI0000047E1A	NM_033130.4	tolerated(0.07)		3/11		Gene3D:2.60.40.10,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF68,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs73049612	.												T	3	4	88	51416942	51416942	G	T	1	0	0	0	0	1	0	0	0	14570	1299	45	2		2	SIGLEC10	19	51416942	Missense_Mutation	SNP	G	C3N-02067_TP	33203509	51416942	7200674	36	28750											
PEG3	0	.	GRCh38	chr19	56816638	56816638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtttccccgcgctcacGttcacgttcacgttcatgtt	7	13	8	13	5	4	0	4	0	0	0	5	0	5	0	2	1	0	6	2	1	1	5	rs199894739		C3N-02067_TP	C3N-02067_NB	G	G																c.1804C>T	p.Arg602Cys	p.R602C	ENST00000326441	10/10	117	106	11	83	83	0	strelka-varscan-mutect	PEG3,missense_variant,p.Arg602Cys,ENST00000326441,NM_001146186.1,NM_001146184.1,NM_006210.2;PEG3,missense_variant,p.Arg478Cys,ENST00000598410,NM_001146187.1;PEG3,missense_variant,p.Arg602Cys,ENST00000599534,;PEG3,missense_variant,p.Arg602Cys,ENST00000599577,;PEG3,missense_variant,p.Arg476Cys,ENST00000593695,NM_001146185.1;ZIM2,intron_variant,,ENST00000629319,NM_001146326.1,NM_001146327.1;ZIM2,intron_variant,,ENST00000599935,;ZIM2,intron_variant,,ENST00000593711,NM_015363.4;ZIM2,intron_variant,,ENST00000601070,;PEG3,downstream_gene_variant,,ENST00000600833,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;	A	ENST00000326441	Transcript	missense_variant	2168/8723	1804/4767	602/1588	R/C	Cgt/Tgt	rs199894739,COSM3960592,COSM3960593,COSM4081932,COSM4081933	1		-1	PEG3	HGNC	HGNC:8826	protein_coding	YES	CCDS12948.1	ENSP00000326581	Q9GZU2		UPI000006D36D	NM_001146186.1,NM_001146184.1,NM_006210.2	tolerated(0.05)		10/10		Low_complexity_(Seg):seg											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs199894739	.												A	3	1	88	56816638	56816638	G	A	1	0	0	0	0	1	0	0	0	11808	1145	40	1		1	PEG3	19	56816638	Missense_Mutation	SNP	G	C3N-02067_TP	5399696	56816638	1800978	37	28751											
SNX21	0	.	GRCh38	chr20	45840710	45840710	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatctctcgccgttactcGgactttgagcggctgcaccg	6	10	11	14	5	1	2	0	1	1	1	4	3	1	3	2	2	3	3	2	2	1	2	rs752760310		C3N-02067_TP	C3N-02067_NB	G	G																c.519G>A	p.=	p.S173S	ENST00000491381	4/4	318	301	17	253	253	0	strelka-varscan-mutect	SNX21,synonymous_variant,p.=,ENST00000372542,;SNX21,synonymous_variant,p.=,ENST00000491381,NM_033421.3;SNX21,synonymous_variant,p.=,ENST00000342644,NM_001042632.2,NM_152897.2;SNX21,3_prime_UTR_variant,,ENST00000462307,NM_001042633.2;SNX21,3_prime_UTR_variant,,ENST00000372541,;ACOT8,downstream_gene_variant,,ENST00000217455,NM_005469.3;ACOT8,downstream_gene_variant,,ENST00000487205,;SNX21,downstream_gene_variant,,ENST00000614929,;SNX21,non_coding_transcript_exon_variant,,ENST00000344780,;SNX21,non_coding_transcript_exon_variant,,ENST00000472219,;SNX21,non_coding_transcript_exon_variant,,ENST00000478230,;SNX21,non_coding_transcript_exon_variant,,ENST00000465997,;SNX21,non_coding_transcript_exon_variant,,ENST00000372547,;SNX21,non_coding_transcript_exon_variant,,ENST00000486336,;ACOT8,downstream_gene_variant,,ENST00000484975,;ACOT8,downstream_gene_variant,,ENST00000493118,;ACOT8,downstream_gene_variant,,ENST00000484783,;ACOT8,downstream_gene_variant,,ENST00000461272,;ACOT8,downstream_gene_variant,,ENST00000483141,;ACOT8,downstream_gene_variant,,ENST00000488679,;ACOT8,downstream_gene_variant,,ENST00000486165,;	A	ENST00000491381	Transcript	synonymous_variant	587/1607	519/1122	173/373	S	tcG/tcA	rs752760310	1		1	SNX21	HGNC	HGNC:16154	protein_coding	YES	CCDS13377.1	ENSP00000418593	Q969T3		UPI0000135B51	NM_033421.3			4/4		PROSITE_profiles:PS50195,hmmpanther:PTHR20939:SF10,hmmpanther:PTHR20939,Pfam_domain:PF00787,Gene3D:3.30.1520.10,SMART_domains:SM00312,Superfamily_domains:SSF64268																	LOW	1	SNV	1			1										PASS		rs752760310	.												A	2	1	88	45840710	45840710	G	A	1	0	0	0	0	0	0	0	1	15214	1103	39	1		1	SNX21	20	45840710	Silent	SNP	G	C3N-02067_TP		45840710	18603457	38	28752											
VWA5B1	0	.	GRCh38	chr1	20337827	20337827	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtccagcggtggcagatTgatttgcaggtacccaagca	10	9	13	9	1	0	2	0	1	0	1	1	3	1	2	2	3	4	4	2	3	2	3	novel		C3N-02087_TP	C3N-02087_NB	T	T																c.2124T>G	p.Ile708Met	p.I708M	ENST00000375079	14/22	107	99	8	97	96	1	strelka-varscan-mutect	VWA5B1,missense_variant,p.Ile708Met,ENST00000289815,NM_001039500.2;VWA5B1,missense_variant,p.Ile708Met,ENST00000375079,;VWA5B1,non_coding_transcript_exon_variant,,ENST00000525343,;VWA5B1,missense_variant,p.Ile135Met,ENST00000467486,;VWA5B1,3_prime_UTR_variant,,ENST00000485375,;VWA5B1,3_prime_UTR_variant,,ENST00000473325,;	G	ENST00000375079	Transcript	missense_variant	2320/3859	2124/3663	708/1220	I/M	atT/atG		1		1	VWA5B1	HGNC	HGNC:26538	protein_coding	YES		ENSP00000364220	Q5TIE3		UPI000066D8B8		tolerated(0.23)		14/22		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF109																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	89	20337827	20337827	T	G	1	0	0	0	0	1	0	0	0	17797	1800	63	5		5	VWA5B1	1	20337827	Missense_Mutation	SNP	T	C3N-02087_TP		20337827	228618595	1	28753											
PATJ	0	.	GRCh38	chr1	61927829	61927829	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagatgcctttaccgacCgtgagtgccttttcactatt	10	13	8	10	2	1	3	1	1	0	2	1	4	1	3	4	0	3	0	4	0	4	6	rs371868730		C3N-02087_TP	C3N-02087_NB	C	C																c.3670C>T	p.Gln1224Ter	p.Q1224*	ENST00000371158	27/43	135	113	22	85	85	0	strelka-varscan-mutect	PATJ,stop_gained,p.Gln1224Ter,ENST00000371158,NM_176877.2;PATJ,stop_gained,p.Gln70Ter,ENST00000494842,;PATJ,stop_gained,p.Gln40Ter,ENST00000490547,;PATJ,intron_variant,,ENST00000613764,;PATJ,stop_gained,p.Gln683Ter,ENST00000484937,;PATJ,splice_region_variant,,ENST00000484562,;PATJ,splice_region_variant,,ENST00000459752,;PATJ,splice_region_variant,,ENST00000635023,;PATJ,splice_region_variant,,ENST00000635214,;	T	ENST00000371158	Transcript	stop_gained,splice_region_variant	3784/8505	3670/5406	1224/1801	Q/*	Caa/Taa	rs371868730,COSM1126970	1		1	PATJ	HGNC	HGNC:28881	protein_coding	YES	CCDS617.2	ENSP00000360200	Q8NI35		UPI0000204487	NM_176877.2			27/43													0,1						HIGH	1	SNV	5		0,1	1										PASS		rs371868730	.												T	4	4	89	61927829	61927829	C	T	1	0	0	0	0	0	1	0	0	11558	666	23	1		1	PATJ	1	61927829	Nonsense_Mutation	SNP	C	C3N-02087_TP	41590002	61927829	187028593	2	28754											
PDE4DIP	0	.	GRCh38	chr1	149027488	149027488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcctttgccaataagcatgGccgccatgtcattggccaca	9	10	8	14	1	1	0	1	0	0	0	2	0	2	0	5	2	2	1	5	2	2	3	novel		C3N-02087_TP	C3N-02087_NB	G	G																c.6530G>A	p.Gly2177Asp	p.G2177D	ENST00000369356	40/44	50	44	6	40	40	0	varscan-mutect	PDE4DIP,missense_variant,p.Gly2313Asp,ENST00000585156,;PDE4DIP,missense_variant,p.Gly2177Asp,ENST00000369356,NM_001198834.3;PDE4DIP,missense_variant,p.Gly2262Asp,ENST00000524974,;PDE4DIP,missense_variant,p.Gly2177Asp,ENST00000369354,NM_014644.5;PDE4DIP,missense_variant,p.Gly2071Asp,ENST00000618462,NM_001198832.2;PDE4DIP,missense_variant,p.Gly254Asp,ENST00000530130,;RP4-791M13.4,upstream_gene_variant,,ENST00000532137,;PDE4DIP,upstream_gene_variant,,ENST00000525630,;PDE4DIP,downstream_gene_variant,,ENST00000526664,;PDE4DIP,upstream_gene_variant,,ENST00000460027,;PDE4DIP,upstream_gene_variant,,ENST00000526182,;PDE4DIP,3_prime_UTR_variant,,ENST00000530062,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000533768,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000534367,;PDE4DIP,upstream_gene_variant,,ENST00000464924,;PDE4DIP,downstream_gene_variant,,ENST00000481227,;PDE4DIP,downstream_gene_variant,,ENST00000534466,;	A	ENST00000369356	Transcript	missense_variant	6821/8307	6530/7089	2177/2362	G/D	gGc/gAc		1		1	PDE4DIP	HGNC	HGNC:15580	protein_coding	YES	CCDS72892.1	ENSP00000358363		A0A0A0MRM1	UPI000292EFC6	NM_001198834.3	deleterious(0)		40/44		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF501																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	89	149027488	149027488	G	A	1	0	0	0	0	1	0	0	0	11731	1203	42	3		3	PDE4DIP	1	149027488	Missense_Mutation	SNP	G	C3N-02087_TP	87099659	149027488	99928934	3	28755											
RPRD2	0	.	GRCh38	chr1	150473192	150473192	+	Frame_Shift_Del	DEL	G	G	-																															ccggagtggtataatcttacGgagtccccggccagactttc																								rs758905047		C3N-02087_TP	C3N-02087_NB	G	G																c.4245delG	p.Ser1416ValfsTer21	p.S1416Vfs*21	ENST00000369068	11/11	222	206	16	173	173	0	sindel-varindel-pindel	RPRD2,frameshift_variant,p.Ser1390ValfsTer21,ENST00000401000,NM_001297674.1,NM_001297673.1;RPRD2,frameshift_variant,p.Ser1416ValfsTer21,ENST00000369068,NM_015203.4;RPRD2,non_coding_transcript_exon_variant,,ENST00000492220,;	-	ENST00000369068	Transcript	frameshift_variant	4248/4612	4244/4386	1415/1461	R/X	cGg/cg	rs758905047	1		1	RPRD2	HGNC	HGNC:29039	protein_coding	YES	CCDS44216.1	ENSP00000358064	Q5VT52		UPI00001D7CA8	NM_015203.4			11/11																			HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	89	150473192	150473192	G	-	1	0	1	0	1	0	0	0	0	13871	1116	39	0		0	RPRD2	1	150473192	Frame_Shift_Del	DEL	G	C3N-02087_TP	1445704	150473192	98483230	4	28756											
ISG20L2	0	.	GRCh38	chr1	156727477	156727477	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagtttcccctttctttGaaggttcagagtgcaactta	9	15	9	8	0	2	2	1	1	1	1	3	3	3	3	2	2	2	3	2	2	4	6	novel		C3N-02087_TP	C3N-02087_NB	G	G																c.176C>A	p.Ser59Ter	p.S59*	ENST00000313146	1/3	229	198	31	168	168	0	strelka-varscan-mutect	ISG20L2,stop_gained,p.Ser59Ter,ENST00000313146,NM_001303095.1;ISG20L2,stop_gained,p.Ser59Ter,ENST00000368219,;RRNAD1,upstream_gene_variant,,ENST00000368216,NM_015997.3;RRNAD1,upstream_gene_variant,,ENST00000368218,NM_001142560.1;RRNAD1,upstream_gene_variant,,ENST00000519086,;RRNAD1,upstream_gene_variant,,ENST00000476229,;RRNAD1,upstream_gene_variant,,ENST00000484742,;RRNAD1,upstream_gene_variant,,ENST00000524343,;RRNAD1,upstream_gene_variant,,ENST00000522237,;ISG20L2,non_coding_transcript_exon_variant,,ENST00000470713,;ISG20L2,non_coding_transcript_exon_variant,,ENST00000469074,;ISG20L2,upstream_gene_variant,,ENST00000472824,;ISG20L2,upstream_gene_variant,,ENST00000496538,;RRNAD1,upstream_gene_variant,,ENST00000517871,;	T	ENST00000313146	Transcript	stop_gained	959/3303	176/1062	59/353	S/*	tCa/tAa		1		-1	ISG20L2	HGNC	HGNC:25745	protein_coding	YES	CCDS1153.1	ENSP00000323424	Q9H9L3		UPI000006D42B	NM_001303095.1			1/3		hmmpanther:PTHR12801,hmmpanther:PTHR12801:SF78																	HIGH	1	SNV	1			1										PASS		rs1054598245	.												T	4	4	89	156727477	156727477	G	T	1	0	0	0	0	0	1	0	0	7762	1294	45	2		2	ISG20L2	1	156727477	Nonsense_Mutation	SNP	G	C3N-02087_TP	6254285	156727477	92228945	5	28757											
KDM5B	0	.	GRCh38	chr1	202741600	202741600	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatctcagcaagctgtggAagttcaacatcaaattcaaa	15	9	7	10	1	4	0	4	0	1	0	5	1	4	1	0	1	3	4	0	1	5	2	novel		C3N-02087_TP	C3N-02087_NB	A	A																c.2712T>C	p.=	p.L904L	ENST00000367265	19/27	385	313	72	254	254	0	strelka-varscan-mutect	KDM5B,synonymous_variant,p.=,ENST00000367265,NM_006618.3;KDM5B,synonymous_variant,p.=,ENST00000367264,;KDM5B,synonymous_variant,p.=,ENST00000235790,;KDM5B,downstream_gene_variant,,ENST00000498276,;	G	ENST00000367265	Transcript	synonymous_variant	3877/10345	2712/4635	904/1544	L	ctT/ctC		1		-1	KDM5B	HGNC	HGNC:18039	protein_coding	YES	CCDS30974.1	ENSP00000356234	Q9UGL1		UPI0000032AA2	NM_006618.3			19/27		Pfam_domain:PF08429,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF3																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	89	202741600	202741600	A	G	1	0	0	0	0	0	0	0	1	8052	233	9	5		5	KDM5B	1	202741600	Silent	SNP	A	C3N-02087_TP	46014123	202741600	46214822	6	28758											
DDX1	0	.	GRCh38	chr2	15607303	15607303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttaagaaatacattgataatCctaaattaaggtaaatcttc	18	14	4	5	0	1	2	0	1	1	1	3	2	2	2	1	1	1	1	1	1	9	8	novel		C3N-02087_TP	C3N-02087_NB	C	C																c.946C>T	p.Pro316Ser	p.P316S	ENST00000381341	14/27	122	108	14	122	122	0	varscan-mutect	DDX1,missense_variant,p.Pro316Ser,ENST00000381341,;DDX1,missense_variant,p.Pro316Ser,ENST00000233084,NM_004939.2;DDX1,missense_variant,p.Pro235Ser,ENST00000617198,;DDX1,missense_variant,p.Pro235Ser,ENST00000621973,;	T	ENST00000381341	Transcript	missense_variant	1335/2817	946/2223	316/740	P/S	Cct/Tct		1		1	DDX1	HGNC	HGNC:2734	protein_coding	YES	CCDS1686.1	ENSP00000370745	Q92499	A3RJH1	UPI00001290D1		deleterious(0)		14/27		PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF307,hmmpanther:PTHR24031,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	89	15607303	15607303	C	T	1	0	0	0	0	1	0	0	0	4145	855	30	3		3	DDX1	2	15607303	Missense_Mutation	SNP	C	C3N-02087_TP		15607303	226586226	7	28759											
SLC8A1	0	.	GRCh38	chr2	40429380	40429380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaccatctaagaaattttCaacatgagaattgaccactt	16	11	5	9	0	2	3	1	2	1	2	2	4	2	3	2	0	2	1	2	0	4	5	novel		C3N-02087_TP	C3N-02087_NB	C	C																c.901G>A	p.Glu301Lys	p.E301K	ENST00000403092	2/11	159	149	10	183	183	0	strelka-varscan-mutect	SLC8A1,missense_variant,p.Glu301Lys,ENST00000406785,;SLC8A1,missense_variant,p.Glu301Lys,ENST00000403092,;SLC8A1,missense_variant,p.Glu301Lys,ENST00000405901,NM_001112800.1;SLC8A1,missense_variant,p.Glu301Lys,ENST00000402441,NM_001112802.1;SLC8A1,missense_variant,p.Glu301Lys,ENST00000405269,;SLC8A1,missense_variant,p.Glu301Lys,ENST00000332839,NM_021097.2;SLC8A1,missense_variant,p.Glu301Lys,ENST00000408028,NM_001112801.1,NM_001252624.1;SLC8A1,missense_variant,p.Glu301Lys,ENST00000406391,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,missense_variant,p.Glu298Lys,ENST00000407929,;	T	ENST00000403092	Transcript	missense_variant	935/3178	901/2922	301/973	E/K	Gaa/Aaa		1		-1	SLC8A1	HGNC	HGNC:11068	protein_coding	YES	CCDS1806.1	ENSP00000384763	P32418		UPI000012FC46		tolerated(0.65)		2/11		Pfam_domain:PF16494,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,TIGRFAM_domain:TIGR00845																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	89	40429380	40429380	C	T	1	0	0	0	0	1	0	0	0	14989	835	29	3		3	SLC8A1	2	40429380	Missense_Mutation	SNP	C	C3N-02087_TP	24822077	40429380	201764149	8	28760											
TTN	0	.	GRCh38	chr2	178568461	178568461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtccttttggaggatcagGtttatctagagttacaattt	10	16	10	5	0	2	1	1	0	1	1	3	3	3	3	1	4	1	2	1	4	4	7	novel		C3N-02087_TP	C3N-02087_NB	G	G																c.77671C>T	p.Pro25891Ser	p.P25891S	ENST00000589042	326/363	279	264	15	248	247	1	strelka-mutect	TTN,missense_variant,p.Pro25891Ser,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Pro24250Ser,ENST00000591111,;TTN,missense_variant,p.Pro24250Ser,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Pro23323Ser,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Pro16826Ser,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Pro17018Ser,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Pro16951Ser,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;	A	ENST00000589042	Transcript	missense_variant	77896/109224	77671/107976	25891/35991	P/S	Cct/Tct		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			326/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF48726,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		rs1214607347	.												A	3	1	89	178568461	178568461	G	A	1	0	0	0	0	1	0	0	0	17245	1261	44	3		3	TTN	2	178568461	Missense_Mutation	SNP	G	C3N-02087_TP	138139081	178568461	63625068	9	28761											
EPHA3	0	.	GRCh38	chr3	89210003	89210003	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagatttatgtggagctCaagttcactctacgagactg	12	11	10	8	1	3	3	2	0	1	3	3	5	3	4	0	1	2	2	0	1	4	4	novel		C3N-02087_TP	C3N-02087_NB	C	C																c.297C>A	p.=	p.L99L	ENST00000336596	3/17	198	186	12	199	199	0	strelka-varscan-mutect	EPHA3,synonymous_variant,p.=,ENST00000336596,NM_005233.5;EPHA3,synonymous_variant,p.=,ENST00000494014,;EPHA3,synonymous_variant,p.=,ENST00000452448,NM_182644.2;	A	ENST00000336596	Transcript	synonymous_variant	522/5809	297/2952	99/983	L	ctC/ctA		1		1	EPHA3	HGNC	HGNC:3387	protein_coding	YES	CCDS2922.1	ENSP00000337451	P29320	A0A140VJJ0	UPI0000163BE4	NM_005233.5			3/17		PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666,Pfam_domain:PF01404,Gene3D:2.60.120.260,SMART_domains:SM00615,Superfamily_domains:SSF49785																	LOW	1	SNV	1			1										PASS		rs1027305939	.												A	2	1	89	89210003	89210003	C	A	1	0	0	0	0	0	0	0	1	5015	813	29	2		2	EPHA3	3	89210003	Silent	SNP	C	C3N-02087_TP		89210003	109085556	10	28762											
MASP1	0	.	GRCh38	chr3	187253314	187253314	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttttggaccaactttgAtctgcaaaatatgagagaga	16	11	8	6	0	1	3	0	2	1	2	1	6	1	4	1	1	3	1	1	1	5	4	novel		C3N-02087_TP	C3N-02087_NB	A	A																c.746T>A	p.Ile249Asn	p.I249N	ENST00000296280	6/11	383	357	26	294	292	2	strelka-varscan-mutect	MASP1,missense_variant,p.Ile249Asn,ENST00000337774,NM_001879.5;MASP1,missense_variant,p.Ile249Asn,ENST00000296280,NM_139125.3;MASP1,missense_variant,p.Ile136Asn,ENST00000392472,;MASP1,missense_variant,p.Ile249Asn,ENST00000169293,NM_001031849.2;MASP1,missense_variant,p.Ile223Asn,ENST00000392470,;MASP1,downstream_gene_variant,,ENST00000392475,;MASP1,intron_variant,,ENST00000495249,;MASP1,downstream_gene_variant,,ENST00000490558,;MASP1,downstream_gene_variant,,ENST00000460839,;MASP1,upstream_gene_variant,,ENST00000483719,;	T	ENST00000296280	Transcript	missense_variant,splice_region_variant	972/4015	746/2187	249/728	I/N	aTc/aAc		1		-1	MASP1	HGNC	HGNC:6901	protein_coding	YES	CCDS33908.1	ENSP00000296280	P48740		UPI000007256E	NM_139125.3	deleterious(0.02)		6/11		Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS01180,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	89	187253314	187253314	A	T	1	0	0	0	0	1	0	0	0	9248	347	12	4		4	MASP1	3	187253314	Missense_Mutation	SNP	A	C3N-02087_TP	98043311	187253314	11042245	11	28763											
MUC4	0	.	GRCh38	chr3	195787436	195787436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgtggatactgaggaaaGgctggtgacaggaagagggg	12	6	18	5	0	0	3	0	2	0	1	0	6	0	6	1	7	1	1	1	7	3	1	novel		C3N-02087_TP	C3N-02087_NB	G	G																c.4144C>T	p.Leu1382Phe	p.L1382F	ENST00000463781	2/25	14	10	4	15	15	0	varscan-mutect	MUC4,missense_variant,p.Leu1382Phe,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Leu1382Phe,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Leu1382Phe,ENST00000478156,;MUC4,missense_variant,p.Leu1382Phe,ENST00000466475,;MUC4,missense_variant,p.Leu1382Phe,ENST00000477756,;MUC4,missense_variant,p.Leu1382Phe,ENST00000477086,;MUC4,missense_variant,p.Leu1382Phe,ENST00000480843,;MUC4,missense_variant,p.Leu1382Phe,ENST00000462323,;MUC4,missense_variant,p.Leu1382Phe,ENST00000470451,;MUC4,missense_variant,p.Leu1382Phe,ENST00000479406,;	A	ENST00000463781	Transcript	missense_variant	4604/17110	4144/16239	1382/5412	L/F	Ctt/Ttt		1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	deleterious_low_confidence(0.04)		2/25																			MODERATE	1	SNV	5			1										PASS		rs1449285184	.												A	3	1	89	195787436	195787436	G	A	1	0	0	0	0	1	0	0	0	9977	1000	35	3		3	MUC4	3	195787436	Missense_Mutation	SNP	G	C3N-02087_TP	8534122	195787436	2508123	12	28764											
ZFYVE16	0	.	GRCh38	chr5	80437641	80437641	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttaaatgattcaaattCaagagatgaaaatttcaaat	19	13	5	4	0	3	3	3	2	0	1	3	4	3	3	0	0	1	1	0	0	7	4	novel		C3N-02087_TP	C3N-02087_NB	C	C																c.956C>A	p.Ser319Ter	p.S319*	ENST00000338008	3/18	95	88	7	90	90	0	strelka-varscan-mutect	ZFYVE16,stop_gained,p.Ser319Ter,ENST00000338008,NM_014733.4;ZFYVE16,stop_gained,p.Ser319Ter,ENST00000510158,NM_001105251.2;ZFYVE16,stop_gained,p.Ser319Ter,ENST00000505560,NM_001284236.1;ZFYVE16,downstream_gene_variant,,ENST00000509562,;ZFYVE16,upstream_gene_variant,,ENST00000511050,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000512558,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000510995,;	A	ENST00000338008	Transcript	stop_gained	1136/6773	956/4620	319/1539	S/*	tCa/tAa		1		1	ZFYVE16	HGNC	HGNC:20756	protein_coding	YES	CCDS4050.1	ENSP00000337159	Q7Z3T8		UPI000013F4A0	NM_014733.4			3/18		hmmpanther:PTHR22835:SF43,hmmpanther:PTHR22835,PIRSF_domain:PIRSF037289																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	89	80437641	80437641	C	A	1	0	0	0	0	0	1	0	0	18242	838	29	2		2	ZFYVE16	5	80437641	Nonsense_Mutation	SNP	C	C3N-02087_TP		80437641	101100618	13	28765											
VCAN	0	.	GRCh38	chr5	83521689	83521689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actaacaccacgcattgggcCaaaagtatctttaagtccag	14	9	7	11	1	1	0	0	0	1	0	2	0	2	0	3	1	1	2	3	1	5	5	novel		C3N-02087_TP	C3N-02087_NB	C	C																c.3383C>T	p.Pro1128Leu	p.P1128L	ENST00000265077	7/15	146	129	17	147	147	0	strelka-varscan-mutect	VCAN,missense_variant,p.Pro1128Leu,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Pro1128Leu,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Pro1080Leu,ENST00000512590,;VCAN,intron_variant,,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,intron_variant,,ENST00000515397,;	T	ENST00000265077	Transcript	missense_variant	3948/12625	3383/10191	1128/3396	P/L	cCa/cTa		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	tolerated(0.09)		7/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	89	83521689	83521689	C	T	1	0	0	0	0	1	0	0	0	17683	594	21	3		3	VCAN	5	83521689	Missense_Mutation	SNP	C	C3N-02087_TP	3084048	83521689	98016570	14	28766											
JAKMIP2	0	.	GRCh38	chr5	147612347	147612347	+	Frame_Shift_Del	DEL	T	T	-																															ttgtcttttctggatgtctgTtttatcttctaagtcacgaa																								novel		C3N-02087_TP	C3N-02087_NB	T	T																c.2371delA	p.Thr791GlnfsTer8	p.T791Qfs*8	ENST00000616793	20/22	129	115	14	121	121	0	sindel-varindel-pindel	JAKMIP2,frameshift_variant,p.Thr791GlnfsTer8,ENST00000616793,NM_001270941.1;JAKMIP2,frameshift_variant,p.Thr791GlnfsTer8,ENST00000265272,NM_014790.4;JAKMIP2,frameshift_variant,p.Thr770GlnfsTer8,ENST00000507386,NM_001270934.1;JAKMIP2,frameshift_variant,p.Thr749GlnfsTer8,ENST00000333010,NM_001282282.1;JAKMIP2-AS1,intron_variant,,ENST00000626945,;JAKMIP2-AS1,intron_variant,,ENST00000627433,;JAKMIP2-AS1,intron_variant,,ENST00000630514,;	-	ENST00000616793	Transcript	frameshift_variant	2912/9272	2371/2463	791/820	T/X	Aca/ca		1		-1	JAKMIP2	HGNC	HGNC:29067	protein_coding	YES	CCDS75352.1	ENSP00000479248	Q96AA8		UPI0000E5AC9B	NM_001270941.1			20/22		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF7																	HIGH		deletion	5			1										PASS		.	.												-	7	5	89	147612347	147612347	T	-	1	0	1	0	1	0	0	0	0	7854	1725	60	0		0	JAKMIP2	5	147612347	Frame_Shift_Del	DEL	T	C3N-02087_TP	64090658	147612347	33925912	15	28767											
EXOC2	0	.	GRCh38	chr6	598883	598883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaaaacttgcacctccGttttcccaaaaagtgacttg	11	13	6	11	1	1	2	0	2	1	0	3	2	3	2	3	0	2	2	3	0	4	5			C3N-02087_TP	C3N-02087_NB	G	G																c.947C>T	p.Thr316Met	p.T316M	ENST00000230449	9/28	166	149	17	156	156	0	strelka-varscan-mutect	EXOC2,missense_variant,p.Thr316Met,ENST00000230449,NM_018303.5;	A	ENST00000230449	Transcript	missense_variant	1083/4449	947/2775	316/924	T/M	aCg/aTg	COSM5484859	1		-1	EXOC2	HGNC	HGNC:24968	protein_coding	YES	CCDS34327.1	ENSP00000230449	Q96KP1	A0A024QZT2	UPI000003E7E3	NM_018303.5	deleterious(0)		9/28		hmmpanther:PTHR13043,Pfam_domain:PF15469											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	89	598883	598883	G	A	1	0	0	0	0	1	0	0	0	5169	1145	40	1		1	EXOC2	6	598883	Missense_Mutation	SNP	G	C3N-02087_TP		598883	170207096	16	28768											
C4B	0	.	GRCh38	chr6	32028773	32028773	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagaaactgcaggagacatCtaactggcttctgtcccagc	11	9	10	11	0	2	2	0	1	2	2	3	4	3	2	1	2	4	2	1	2	2	2	novel		C3N-02087_TP	C3N-02087_NB	C	C																c.3311C>G	p.Ser1104Cys	p.S1104C	ENST00000435363	26/41	353	303	50	259	258	1	varscan-mutect	C4B,missense_variant,p.Ser1104Cys,ENST00000435363,NM_001002029.3;C4B,missense_variant,p.Ser1104Cys,ENST00000425700,;C4B-AS1,downstream_gene_variant,,ENST00000415626,;C4B,upstream_gene_variant,,ENST00000468936,;C4B,upstream_gene_variant,,ENST00000463249,;C4B,downstream_gene_variant,,ENST00000461632,;C4B,upstream_gene_variant,,ENST00000468237,;C4B,upstream_gene_variant,,ENST00000485263,;C4B,upstream_gene_variant,,ENST00000478388,;C4B,downstream_gene_variant,,ENST00000474912,;C4B,upstream_gene_variant,,ENST00000486992,;C4B,downstream_gene_variant,,ENST00000478438,;	G	ENST00000435363	Transcript	missense_variant	3395/5460	3311/5235	1104/1744	S/C	tCt/tGt		1		1	C4B	HGNC	HGNC:1324	protein_coding	YES	CCDS47405.1	ENSP00000415941	P0C0L5		UPI000016A806	NM_001002029.3	deleterious(0.04)		26/41		hmmpanther:PTHR11412:SF96,hmmpanther:PTHR11412,Gene3D:1.50.10.20,Pfam_domain:PF07678,Superfamily_domains:SSF48239																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	89	32028773	32028773	C	G	1	0	0	0	0	1	0	0	0	2075	913	32	4		4	C4B	6	32028773	Missense_Mutation	SNP	C	C3N-02087_TP	31429890	32028773	138777206	17	28769											
SP8	0	.	GRCh38	chr7	20784295	20784295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgcagggtgggcgtcactCtaggccgttgcggtgcccgg	3	7	19	12	5	2	0	1	0	1	0	2	0	2	0	2	6	2	2	2	6	1	2	novel		C3N-02087_TP	C3N-02087_NB	C	C																c.1522G>C	p.Glu508Gln	p.E508Q	ENST00000418710	2/2	80	76	4	46	46	0	strelka-mutect	SP8,missense_variant,p.Glu466Gln,ENST00000617581,;SP8,missense_variant,p.Glu490Gln,ENST00000361443,NM_198956.3;SP8,missense_variant,p.Glu508Gln,ENST00000418710,NM_182700.5;	G	ENST00000418710	Transcript	missense_variant	1610/1618	1522/1527	508/508	E/Q	Gag/Cag		1		-1	SP8	HGNC	HGNC:19196	protein_coding	YES	CCDS43555.1	ENSP00000408792	Q8IXZ3		UPI00001AADF2	NM_182700.5	deleterious_low_confidence(0)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	89	20784295	20784295	C	G	1	0	0	0	0	1	0	0	0	15296	922	32	4		4	SP8	7	20784295	Missense_Mutation	SNP	C	C3N-02087_TP		20784295	138561678	18	28770											
VWC2	0	.	GRCh38	chr7	49775630	49775630	+	Frame_Shift_Del	DEL	G	G	-																															gtgaacgagctcgggcgcccGgcgagggacgagggcggcag																								rs747210205		C3N-02087_TP	C3N-02087_NB	G	G																c.196delG	p.Ala66ArgfsTer28	p.A66Rfs*28	ENST00000340652	2/4	117	100	17	88	88	0	sindel-varindel-pindel	VWC2,frameshift_variant,p.Ala66ArgfsTer28,ENST00000340652,NM_198570.3;	-	ENST00000340652	Transcript	frameshift_variant	751/11299	195/978	65/325	P/X	ccG/cc	rs747210205	1		1	VWC2	HGNC	HGNC:30200	protein_coding	YES	CCDS5508.1	ENSP00000341819	Q2TAL6		UPI00002373A5	NM_198570.3			2/4																			HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	89	49775630	49775630	G	-	1	0	1	0	1	0	0	0	0	17802	1103	39	0		0	VWC2	7	49775630	Frame_Shift_Del	DEL	G	C3N-02087_TP	28991335	49775630	109570343	19	28771											
EGFR	0	.	GRCh38	chr7	55174774	55174791	+	In_Frame_Del	DEL	AATTAAGAGAAGCAACAT	AATTAAGAGAAGCAACAT	-																															aattcccgtcgctatcaaggAattaagagaagcaacatctc																								rs121913422		C3N-02087_TP	C3N-02087_NB	AATTAAGAGAAGCAACAT	AATTAAGAGAAGCAACAT																c.2237_2254delAATTAAGAGAAGCAACAT	p.Glu746_Ser752delinsAla	p.E746_S752delinsA	ENST00000275493	19/28	535	451	84	411	411	0	sindel-varindel	EGFR,inframe_deletion,p.Glu746_Ser752delinsAla,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Glu701_Ser707delinsAla,ENST00000454757,;EGFR,inframe_deletion,p.Glu701_Ser707delinsAla,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	-	ENST00000275493	Transcript	inframe_deletion	2414-2431/9821	2237-2254/3633	746-752/1210	ELREATS/A	gAATTAAGAGAAGCAACATct/gct	rs121913422,COSM12367	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1						MODERATE	1	deletion	1		1,1	1										PASS		.	.												-	7	5	89	55174774	55174774	AATTAAGAGAAGCAACAT	-	1	0	1	0	1	0	0	0	0	4803	246	9	0		0	EGFR	7	55174774	In_Frame_Del	DEL	AATTAAGAGAAGCAACAT	C3N-02087_TP	5399144	55174774	104171199	20	28772			1	26		2	2	19	N	C_AATTAAGAGAAGCAACAT	2.622795e-05
EGFR	0	.	GRCh38	chr7	55174792	55174792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaattaagagaagcaacatCtccgaaagccaacaaggaaa	20	4	9	8	1	1	1	0	0	1	1	2	5	1	3	2	2	4	1	2	2	8	1	rs121913464		C3N-02087_TP	C3N-02087_NB	C	C																c.2255C>T	p.Ser752Phe	p.S752F	ENST00000275493	19/28	509	417	92	368	367	1	strelka-varscan-mutect	EGFR,missense_variant,p.Ser752Phe,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ser707Phe,ENST00000454757,;EGFR,missense_variant,p.Ser707Phe,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	T	ENST00000275493	Transcript	missense_variant	2432/9821	2255/3633	752/1210	S/F	tCt/tTt	rs121913464,COSM13186,COSM4170219	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs121913464	.												T	3	4	89	55174792	55174792	C	T	1	0	0	0	0	1	0	0	0	4803	913	32	3		3	EGFR	7	55174792	Missense_Mutation	SNP	C	C3N-02087_TP	18	55174792	104171181	21	28773			1	26		2	2	19	N	C_AATTAAGAGAAGCAACAT	2.622795e-05
ADRA1A	0	.	GRCh38	chr8	26770525	26770525	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgcagagacactggattCtcaagacattctgaaaggcc	12	10	9	10	0	3	3	1	1	3	2	4	5	3	4	1	2	1	1	1	2	2	3	novel		C3N-02087_TP	C3N-02087_NB	C	C																c.1025G>C	p.Arg342Thr	p.R342T	ENST00000380586	2/3	191	181	10	205	205	0	strelka-varscan-mutect	ADRA1A,missense_variant,p.Arg342Thr,ENST00000380573,;ADRA1A,missense_variant,p.Arg342Thr,ENST00000380586,NM_033303.3;ADRA1A,missense_variant,p.Arg342Thr,ENST00000276393,NM_000680.2;ADRA1A,missense_variant,p.Arg342Thr,ENST00000380582,NM_033302.2;ADRA1A,missense_variant,p.Arg342Thr,ENST00000519229,;ADRA1A,missense_variant,p.Arg342Thr,ENST00000354550,NM_033304.2;ADRA1A,non_coding_transcript_exon_variant,,ENST00000518621,;ADRA1A,intron_variant,,ENST00000519096,;ADRA1A,intron_variant,,ENST00000521711,;RP11-384C12.1,upstream_gene_variant,,ENST00000486251,;	G	ENST00000380586	Transcript	missense_variant	1461/2304	1025/1428	342/475	R/T	aGa/aCa		1		-1	ADRA1A	HGNC	HGNC:277	protein_coding	YES	CCDS34869.1	ENSP00000369960	P35348	B0ZBD3	UPI000066DA42	NM_033303.3	tolerated(0.06)		2/3		Gene3D:1.20.1070.10,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF16,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	89	26770525	26770525	C	G	1	0	0	0	0	1	0	0	0	410	913	32	4		4	ADRA1A	8	26770525	Missense_Mutation	SNP	C	C3N-02087_TP		26770525	118368111	22	28774											
MAPKAP1	0	.	GRCh38	chr9	125484523	125484523	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtggctgctaagcataTcctgtactgtggctatgtca	9	13	11	8	0	1	0	1	0	0	0	2	0	2	0	1	3	3	5	1	3	5	4	novel		C3N-02087_TP	C3N-02087_NB	T	T																c.1127A>G	p.Asp376Gly	p.D376G	ENST00000265960	9/12	189	167	22	167	167	0	strelka-varscan-mutect	MAPKAP1,missense_variant,p.Asp376Gly,ENST00000265960,NM_001006617.1;MAPKAP1,missense_variant,p.Asp340Gly,ENST00000350766,NM_024117.3;MAPKAP1,missense_variant,p.Asp376Gly,ENST00000373498,;MAPKAP1,missense_variant,p.Asp184Gly,ENST00000373503,NM_001006620.1;MAPKAP1,missense_variant,p.Asp184Gly,ENST00000394063,NM_001006621.1;MAPKAP1,missense_variant,p.Asp148Gly,ENST00000420643,;MAPKAP1,intron_variant,,ENST00000373511,NM_001006619.1;MAPKAP1,upstream_gene_variant,,ENST00000444226,;MAPKAP1,non_coding_transcript_exon_variant,,ENST00000496063,;MAPKAP1,missense_variant,p.Asp148Gly,ENST00000497932,;	C	ENST00000265960	Transcript	missense_variant	1460/3395	1127/1569	376/522	D/G	gAt/gGt		1		-1	MAPKAP1	HGNC	HGNC:18752	protein_coding	YES	CCDS35140.1	ENSP00000265960	Q9BPZ7		UPI00000372F6	NM_001006617.1	tolerated(0.29)		9/12		hmmpanther:PTHR13335																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	89	125484523	125484523	T	C	1	0	0	0	0	1	0	0	0	9212	1435	50	5		5	MAPKAP1	9	125484523	Missense_Mutation	SNP	T	C3N-02087_TP		125484523	12910194	23	28775											
MAPK8	0	.	GRCh38	chr10	48434907	48434907	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagtgatcaatggctctCagcatccatcatcatcgtcg	10	10	8	13	2	4	1	4	1	1	0	8	1	5	1	1	1	2	3	1	1	1	0			C3N-02087_TP	C3N-02087_NB	C	C																c.1162C>G	p.Gln388Glu	p.Q388E	ENST00000395611	12/12	110	100	10	70	70	0	strelka-varscan-mutect	MAPK8,missense_variant,p.Gln388Glu,ENST00000395611,NM_001323330.1,NM_001323325.1,NM_001323323.1,NM_001323321.1,NM_001323322.1,NM_001278547.1;MAPK8,missense_variant,p.Gln388Glu,ENST00000374189,NM_001323329.1,NM_001323326.1,NM_001323324.1,NM_001323327.1,NM_001323331.1,NM_001323328.1,NM_001323302.1,NM_139049.2;MAPK8,missense_variant,p.Gln388Glu,ENST00000374176,;MAPK8,3_prime_UTR_variant,,ENST00000374182,NM_002750.3;MAPK8,3_prime_UTR_variant,,ENST00000374179,NM_139046.2;MAPK8,3_prime_UTR_variant,,ENST00000360332,NM_001323320.1,NM_001278548.1;MAPK8,non_coding_transcript_exon_variant,,ENST00000459755,;MAPK8,downstream_gene_variant,,ENST00000469879,;MAPK8,non_coding_transcript_exon_variant,,ENST00000469110,;	G	ENST00000395611	Transcript	missense_variant	1394/5844	1162/1284	388/427	Q/E	Cag/Gag	COSM1745809	1		1	MAPK8	HGNC	HGNC:6881	protein_coding	YES	CCDS7223.1	ENSP00000378974	P45983	A1L4K2	UPI000002AE0B	NM_001323330.1,NM_001323325.1,NM_001323323.1,NM_001323321.1,NM_001323322.1,NM_001278547.1	tolerated_low_confidence(1)		12/12		hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF222,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	2		1	1										PASS		.	.												G	3	3	89	48434907	48434907	C	G	1	0	0	0	0	1	0	0	0	9207	827	29	4		4	MAPK8	10	48434907	Missense_Mutation	SNP	C	C3N-02087_TP		48434907	85362515	24	28776											
OIT3	0	.	GRCh38	chr10	72900421	72900421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgccatggcagctgctcaGataccagcgagtgcacatgc	10	7	11	13	1	1	1	1	0	0	1	1	2	1	1	2	1	7	4	2	1	1	1	novel		C3N-02087_TP	C3N-02087_NB	G	G																c.481G>A	p.Asp161Asn	p.D161N	ENST00000334011	3/9	194	175	19	132	132	0	strelka-varscan-mutect	OIT3,missense_variant,p.Asp161Asn,ENST00000334011,NM_152635.2;OIT3,missense_variant,p.Asp161Asn,ENST00000622652,;	A	ENST00000334011	Transcript	missense_variant	699/2365	481/1638	161/545	D/N	Gat/Aat		1		1	OIT3	HGNC	HGNC:29953	protein_coding	YES	CCDS7318.1	ENSP00000333900	Q8WWZ8		UPI00000389F9	NM_152635.2	tolerated(0.38)		3/9		hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF326,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	89	72900421	72900421	G	A	1	0	0	0	0	1	0	0	0	10924	942	33	3		3	OIT3	10	72900421	Missense_Mutation	SNP	G	C3N-02087_TP	24465514	72900421	60897001	25	28777											
IDE	0	.	GRCh38	chr10	92531860	92531860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttctgaatcaactgcattCacctctctgtctttgcaact	8	16	5	12	0	5	1	2	1	3	0	6	1	5	1	1	0	4	3	1	0	3	3	novel		C3N-02087_TP	C3N-02087_NB	C	C																c.549G>A	p.=	p.V183V	ENST00000265986	4/25	130	120	10	172	172	0	strelka-varscan-mutect	IDE,synonymous_variant,p.=,ENST00000265986,NM_001322795.1,NM_001322796.1,NM_004969.3;IDE,synonymous_variant,p.=,ENST00000436178,;IDE,3_prime_UTR_variant,,ENST00000478361,;	T	ENST00000265986	Transcript	synonymous_variant	606/5877	549/3060	183/1019	V	gtG/gtA		1		-1	IDE	HGNC	HGNC:5381	protein_coding	YES	CCDS7421.1	ENSP00000265986	P14735		UPI000013D6B6	NM_001322795.1,NM_001322796.1,NM_004969.3			4/25		hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF155,Pfam_domain:PF00675,Gene3D:3.30.830.10,Superfamily_domains:SSF63411																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	89	92531860	92531860	C	T	1	0	0	0	0	0	0	0	1	7393	813	29	3		3	IDE	10	92531860	Silent	SNP	C	C3N-02087_TP	19631439	92531860	41265562	26	28778											
SLC35G1	0	.	GRCh38	chr10	93900880	93900880	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgatgccacagttatcaCgtttagcagtccagtgttta	9	13	9	10	2	1	1	1	1	0	0	2	1	2	1	2	0	2	5	2	0	3	5			C3N-02087_TP	C3N-02087_NB	C	C																c.488C>A	p.Thr163Lys	p.T163K	ENST00000427197	3/3	294	271	23	281	281	0	strelka-varscan-mutect	SLC35G1,missense_variant,p.Thr162Lys,ENST00000371408,NM_153226.2;SLC35G1,missense_variant,p.Thr163Lys,ENST00000427197,NM_001134658.1;SLC35G1,intron_variant,,ENST00000483386,;SLC35G1,intron_variant,,ENST00000603665,;SLC35G1,intron_variant,,ENST00000494992,;SLC35G1,intron_variant,,ENST00000605679,;	A	ENST00000427197	Transcript	missense_variant	549/2402	488/1098	163/365	T/K	aCg/aAg	COSM198819	1		1	SLC35G1	HGNC	HGNC:26607	protein_coding	YES	CCDS44459.1	ENSP00000400932	Q2M3R5		UPI000013FE98	NM_001134658.1	deleterious(0.03)		3/3		Transmembrane_helices:TMhelix,hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF6,Pfam_domain:PF00892,Superfamily_domains:0043518											1						MODERATE	1	SNV	1		1	1										PASS		rs1391420155	.												A	3	1	89	93900880	93900880	C	A	1	0	0	0	0	1	0	0	0	14865	536	19	1		1	SLC35G1	10	93900880	Missense_Mutation	SNP	C	C3N-02087_TP	1369020	93900880	39896542	27	28779											
SCUBE2	0	.	GRCh38	chr11	9091483	9091483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcaccgcccaggccgccccgg	9	0	13	19	3	0	0	0	0	0	0	0	0	0	0	5	2	7	7	5	2	0	0	rs762216053		C3N-02087_TP	C3N-02087_NB	G	G																c.46C>G	p.Leu16Val	p.L16V	ENST00000520467	1/22	64	57	7	52	52	0	varscan-mutect	SCUBE2,missense_variant,p.Leu16Val,ENST00000309263,;SCUBE2,missense_variant,p.Leu16Val,ENST00000520467,NM_020974.2;SCUBE2,missense_variant,p.Leu16Val,ENST00000450649,NM_001170690.1;MIR5691,upstream_gene_variant,,ENST00000579525,;SCUBE2,intron_variant,,ENST00000534295,;KRT8P41,upstream_gene_variant,,ENST00000533985,;	C	ENST00000520467	Transcript	missense_variant	117/3148	46/2916	16/971	L/V	Ctg/Gtg	rs762216053,COSM5507553,COSM5507554	1		-1	SCUBE2	HGNC	HGNC:30425	protein_coding	YES	CCDS7797.2	ENSP00000429969		A0A0A0MTC8	UPI0000EE38F4	NM_020974.2	tolerated_low_confidence(0.27)		1/22		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24046:SF3,hmmpanther:PTHR24046											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		.	.												C	3	2	89	9091483	9091483	G	C	1	0	0	0	0	1	0	0	0	14216	962	34	4		4	SCUBE2	11	9091483	Missense_Mutation	SNP	G	C3N-02087_TP		9091483	125995139	28	28780											
KMT5B	0	.	GRCh38	chr11	68158856	68158856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggcttgggctggtcccTctggctccttatctttttta	2	17	10	12	1	2	0	0	0	2	0	4	0	4	0	2	4	1	3	2	4	2	5	rs763264500		C3N-02087_TP	C3N-02087_NB	T	T																c.1490A>G	p.Glu497Gly	p.E497G	ENST00000304363	11/11	281	258	23	250	250	0	strelka-varscan-mutect	KMT5B,missense_variant,p.Glu497Gly,ENST00000304363,NM_017635.4,NM_001300907.1;KMT5B,missense_variant,p.Glu497Gly,ENST00000615954,NM_001300908.1;KMT5B,3_prime_UTR_variant,,ENST00000441488,;KMT5B,3_prime_UTR_variant,,ENST00000427752,;	C	ENST00000304363	Transcript	missense_variant	1844/5837	1490/2658	497/885	E/G	gAg/gGg	rs763264500	1		-1	KMT5B	HGNC	HGNC:24283	protein_coding	YES	CCDS31623.1	ENSP00000305899	Q4FZB7		UPI00003FF22C	NM_017635.4,NM_001300907.1	tolerated(0.1)		11/11		hmmpanther:PTHR12977:SF12,hmmpanther:PTHR12977																	MODERATE	1	SNV	5			1										PASS		rs763264500	.												C	3	2	89	68158856	68158856	T	C	1	0	0	0	0	1	0	0	0	8301	1551	54	5		5	KMT5B	11	68158856	Missense_Mutation	SNP	T	C3N-02087_TP	59067373	68158856	66927766	29	28781											
NCAM1	0	.	GRCh38	chr11	113275357	113275360	+	Frame_Shift_Del	DEL	ACAG	ACAG	-																															acggtccccaatgacgccacAcagacaaaggagaacgagag																								novel		C3N-02087_TP	C3N-02087_NB	ACAG	ACAG																c.2628_2631delGACA	p.Thr877ArgfsTer?	p.T877Rfs*?	ENST00000619839	21/21	178	159	19	187	187	0	sindel-varindel-pindel	NCAM1,frameshift_variant,p.Thr877ArgfsTer10,ENST00000615285,;NCAM1,frameshift_variant,p.Thr851ArgfsTer10,ENST00000615112,;NCAM1,frameshift_variant,p.Thr841ArgfsTer10,ENST00000618266,;NCAM1,frameshift_variant,p.Thr851ArgfsTer10,ENST00000316851,NM_181351.4;NCAM1,frameshift_variant,p.Thr877ArgfsTer?,ENST00000619839,NM_001242607.1;NCAM1,frameshift_variant,p.Thr841ArgfsTer10,ENST00000531044,NM_000615.6;NCAM1,frameshift_variant,p.Thr461ArgfsTer10,ENST00000528158,;NCAM1,frameshift_variant,p.Thr350ArgfsTer10,ENST00000533073,;NCAM1,frameshift_variant,p.Thr365ArgfsTer10,ENST00000528590,;NCAM1-AS1,upstream_gene_variant,,ENST00000526229,;RP11-839D17.3,downstream_gene_variant,,ENST00000529416,;NCAM1-AS1,upstream_gene_variant,,ENST00000533638,;RP11-839D17.3,downstream_gene_variant,,ENST00000526487,;RP11-839D17.3,downstream_gene_variant,,ENST00000533504,;NCAM1,non_coding_transcript_exon_variant,,ENST00000611284,;NCAM1,downstream_gene_variant,,ENST00000533226,;	-	ENST00000619839	Transcript	frameshift_variant	2963-2966/2993	2625-2628/2655	875-876/884	TQ/X	acACAG/ac		1		1	NCAM1	HGNC	HGNC:7656	protein_coding	YES	CCDS73384.1	ENSP00000480132		A0A087WWD4	UPI00021269F1	NM_001242607.1			21/21																			HIGH		deletion	5	3		1										PASS		.	.												-	7	5	89	113275357	113275357	ACAG	-	1	0	1	0	1	0	0	0	0	10218	146	6	0		0	NCAM1	11	113275357	Frame_Shift_Del	DEL	ACAG	C3N-02087_TP	45116501	113275357	21811265	30	28782											
CKAP4	0	.	GRCh38	chr12	106239846	106239846	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgctcctgcttgaggctCaccagctcgcggacctcggt	4	10	12	15	3	1	1	1	1	0	0	4	2	2	2	3	3	4	5	3	3	0	1	rs781000102		C3N-02087_TP	C3N-02087_NB	C	C																c.987G>C	p.=	p.V329V	ENST00000378026	2/2	215	203	12	198	198	0	strelka-varscan-mutect	CKAP4,synonymous_variant,p.=,ENST00000378026,NM_006825.3;CKAP4,downstream_gene_variant,,ENST00000553039,;CKAP4,downstream_gene_variant,,ENST00000552828,;	G	ENST00000378026	Transcript	synonymous_variant	1124/3093	987/1809	329/602	V	gtG/gtC	rs781000102	1		-1	CKAP4	HGNC	HGNC:16991	protein_coding	YES	CCDS9103.1	ENSP00000367265	Q07065	A0A024RBH2	UPI00000723B9	NM_006825.3			2/2		hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF243																	LOW	1	SNV	1			1										PASS		rs781000102	.												G	2	3	89	106239846	106239846	C	G	1	0	0	0	0	0	0	0	1	3207	813	29	4		4	CKAP4	12	106239846	Silent	SNP	C	C3N-02087_TP		106239846	27035463	31	28783											
CUX2	0	.	GRCh38	chr12	111320418	111320418	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgcccctacgcctccgtGtcgccctcgctgtcctcctc	2	9	8	22	5	0	0	0	0	0	0	6	0	3	0	8	0	2	1	8	0	1	1	rs758742538		C3N-02087_TP	C3N-02087_NB	G	G																c.2409G>A	p.=	p.V803V	ENST00000261726	17/22	316	298	18	218	218	0	strelka-varscan-mutect	CUX2,synonymous_variant,p.=,ENST00000261726,NM_015267.3;	A	ENST00000261726	Transcript	synonymous_variant	2563/6844	2409/4461	803/1486	V	gtG/gtA	rs758742538	1		1	CUX2	HGNC	HGNC:19347	protein_coding	YES	CCDS41837.1	ENSP00000261726	O14529		UPI00001FBB07	NM_015267.3			17/22		Low_complexity_(Seg):seg,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5																	LOW	1	SNV	1			1										PASS		rs758742538	.												A	2	1	89	111320418	111320418	G	A	1	0	0	0	0	0	0	0	1	3875	1364	48	3		3	CUX2	12	111320418	Silent	SNP	G	C3N-02087_TP	5080572	111320418	21954891	32	28784											
GRK1	0	.	GRCh38	chr13	113732938	113732938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagcccgtgaagtaccctGataagttcagccaggccagc	11	6	11	13	1	1	3	1	2	0	1	1	3	1	3	4	1	4	2	4	1	3	3	rs367690330		C3N-02087_TP	C3N-02087_NB	G	G																c.1249G>A	p.Asp417Asn	p.D417N	ENST00000335678	6/7	272	252	20	244	244	0	strelka-varscan-mutect	GRK1,missense_variant,p.Asp417Asn,ENST00000335678,;GRK1,non_coding_transcript_exon_variant,,ENST00000545304,;GRK1,upstream_gene_variant,,ENST00000606140,;	A	ENST00000335678	Transcript	missense_variant	1481/4296	1249/1692	417/563	D/N	Gat/Aat	rs367690330	1		1	GRK1	HGNC	HGNC:10013	protein_coding	YES		ENSP00000334876	Q15835		UPI0000133B08		tolerated(0.14)		6/7		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF11,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs367690330	.												A	3	1	89	113732938	113732938	G	A	1	0	0	0	0	1	0	0	0	6671	1290	45	3		3	GRK1	13	113732938	Missense_Mutation	SNP	G	C3N-02087_TP		113732938	631390	33	28785											
GSC	0	.	GRCh38	chr14	94768635	94768635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcctccatttggcgcggcgGttcttaaaccagacctgttg	6	11	11	13	4	1	1	0	0	1	1	2	1	2	1	4	3	1	2	4	3	2	4	novel		C3N-02087_TP	C3N-02087_NB	G	G																c.630C>A	p.Asn210Lys	p.N210K	ENST00000238558	3/3	397	361	36	259	258	1	strelka-varscan-mutect	GSC,missense_variant,p.Asn210Lys,ENST00000238558,NM_173849.2;	T	ENST00000238558	Transcript	missense_variant	845/1264	630/774	210/257	N/K	aaC/aaA		1		-1	GSC	HGNC	HGNC:4612	protein_coding	YES	CCDS9930.1	ENSP00000238558	P56915		UPI000000D86A	NM_173849.2	deleterious(0.02)		3/3		PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF275,hmmpanther:PTHR24329,PROSITE_patterns:PS00027,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	89	94768635	94768635	G	T	1	0	0	0	0	1	0	0	0	6696	1252	44	2		2	GSC	14	94768635	Missense_Mutation	SNP	G	C3N-02087_TP		94768635	12275083	34	28786											
VRK1	0	.	GRCh38	chr14	96856208	96856208	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatcttccttgggaggAtaatttgaaagatcctaaat	12	13	9	7	0	1	2	0	1	1	1	3	4	3	4	3	3	0	0	3	3	4	5	novel		C3N-02087_TP	C3N-02087_NB	A	A																c.788A>C	p.Asp263Ala	p.D263A	ENST00000216639	9/13	255	238	17	261	261	0	strelka-varscan-mutect	VRK1,missense_variant,p.Asp263Ala,ENST00000216639,NM_003384.2;VRK1,missense_variant,p.Asp120Ala,ENST00000557222,;VRK1,missense_variant,p.Asp45Ala,ENST00000557352,;VRK1,upstream_gene_variant,,ENST00000555067,;VRK1,downstream_gene_variant,,ENST00000555351,;	C	ENST00000216639	Transcript	missense_variant	937/1745	788/1191	263/396	D/A	gAt/gCt		1		1	VRK1	HGNC	HGNC:12718	protein_coding	YES	CCDS9947.1	ENSP00000216639	Q99986		UPI0000073867	NM_003384.2	deleterious(0.05)		9/13		PROSITE_profiles:PS50011,hmmpanther:PTHR11909:SF78,hmmpanther:PTHR11909,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs1428656431	.												C	3	2	89	96856208	96856208	A	C	1	0	0	0	0	1	0	0	0	17768	333	12	5		5	VRK1	14	96856208	Missense_Mutation	SNP	A	C3N-02087_TP	2087573	96856208	10187510	35	28787											
GOLGA6L2	0	.	GRCh38	chr15	23439862	23439862	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctccttctctcgcatcTcctcctgcccccacatcttc	3	14	2	22	1	4	0	0	0	4	0	11	0	6	0	6	0	1	1	6	0	0	2	rs115216613		C3N-02087_TP	C3N-02087_NB	T	T																c.2613A>T	p.=	p.G871G	ENST00000567107	8/8	164	153	11	157	154	3	varscan-mutect	GOLGA6L2,missense_variant,p.Glu309Val,ENST00000312015,;GOLGA6L2,synonymous_variant,p.=,ENST00000567107,NM_001304388.1;GOLGA6L2,synonymous_variant,p.=,ENST00000345070,;GOLGA6L2,3_prime_UTR_variant,,ENST00000566571,;RP11-529J17.3,downstream_gene_variant,,ENST00000569537,;	A	ENST00000567107	Transcript	synonymous_variant	2666/3030	2613/2730	871/909	G	ggA/ggT	rs115216613	1		-1	GOLGA6L2	HGNC	HGNC:26695	protein_coding	YES	CCDS76728.1	ENSP00000454407		H3BMJ4	UPI00024672CE	NM_001304388.1			8/8		Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs115216613	.												A	2	1	89	23439862	23439862	T	A	1	0	0	0	0	0	0	0	1	6440	1538	54	4		4	GOLGA6L2	15	23439862	Silent	SNP	T	C3N-02087_TP		23439862	78551327	36	28788											
ACSBG1	0	.	GRCh38	chr15	78173592	78173592	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtgaaaaggaaaaacctaCccaactctccacccgaaatg	16	6	7	12	1	1	1	0	1	1	0	2	3	1	2	4	2	3	0	4	2	7	1	novel		C3N-02087_TP	C3N-02087_NB	C	C																c.2089+1G>A		p.X697_splice	ENST00000258873		114	108	6	95	95	0	strelka-varscan-mutect	ACSBG1,splice_donor_variant,,ENST00000258873,NM_001199377.1,NM_015162.4;ACSBG1,splice_donor_variant,,ENST00000560817,;IDH3A,downstream_gene_variant,,ENST00000299518,NM_005530.2;IDH3A,downstream_gene_variant,,ENST00000558554,;IDH3A,downstream_gene_variant,,ENST00000559205,;IDH3A,downstream_gene_variant,,ENST00000558535,;ACSBG1,splice_donor_variant,,ENST00000560124,;IDH3A,downstream_gene_variant,,ENST00000559889,;IDH3A,downstream_gene_variant,,ENST00000558602,;IDH3A,downstream_gene_variant,,ENST00000560667,;IDH3A,downstream_gene_variant,,ENST00000559803,;ACSBG1,downstream_gene_variant,,ENST00000560183,;IDH3A,downstream_gene_variant,,ENST00000558016,;IDH3A,downstream_gene_variant,,ENST00000557960,;	T	ENST00000258873	Transcript	splice_donor_variant	-/6357	2089/2175	697/724				1		-1	ACSBG1	HGNC	HGNC:29567	protein_coding	YES	CCDS10298.1	ENSP00000258873	Q96GR2		UPI000006E955	NM_001199377.1,NM_015162.4				13/13																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	89	78173592	78173592	C	T	1	0	0	0	0	0	0	1	0	215	521	18	3		3	ACSBG1	15	78173592	Splice_Site	SNP	C	C3N-02087_TP	54733730	78173592	23817597	37	28789											
TP53	0	.	GRCh38	chr17	7674233	7674233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcctccggttcatgccgcCcatgcaggaactgttacaca	8	8	11	14	2	1	0	1	0	0	0	2	1	2	1	4	3	4	3	4	3	2	2			C3N-02087_TP	C3N-02087_NB	C	C																c.730G>A	p.Gly244Ser	p.G244S	ENST00000269305	7/11	270	235	35	211	211	0	strelka-varscan-mutect	TP53,missense_variant,p.Gly244Ser,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Gly244Ser,ENST00000420246,;TP53,missense_variant,p.Gly205Ser,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Gly205Ser,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Gly244Ser,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Gly205Ser,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Gly244Ser,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Gly205Ser,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Gly244Ser,ENST00000445888,;TP53,missense_variant,p.Gly205Ser,ENST00000619485,;TP53,missense_variant,p.Gly112Ser,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Gly85Ser,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Gly112Ser,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Gly85Ser,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Gly112Ser,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Gly85Ser,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Gly244Ser,ENST00000359597,;TP53,missense_variant,p.Gly233Ser,ENST00000615910,;TP53,missense_variant,p.Gly244Ser,ENST00000413465,;TP53,missense_variant,p.Gly112Ser,ENST00000509690,;TP53,missense_variant,p.Gly151Ser,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Gly205Ser,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	T	ENST00000269305	Transcript	missense_variant	920/2579	730/1182	244/393	G/S	Ggc/Agc	TP53_g.13367del,TP53_g.13367G>A,TP53_g.13367G>T,TP53_g.13367G>C,COSM10941,COSM11524,COSM1646853,COSM1716873,COSM3355992,COSM3733384,COSM3970348,COSM3970349,COSM44221,COSM44940,COSM673602,COSM673603,COSM673604,COSM984898,COSM984900,COSM984901,COSM99683,COSM99684,COSM99685	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386											0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs1057519989	.												T	3	4	89	7674233	7674233	C	T	1	0	0	0	0	1	0	0	0	16859	623	22	3		3	TP53	17	7674233	Missense_Mutation	SNP	C	C3N-02087_TP		7674233	75583208	38	28790											
CCR7	0	.	GRCh38	chr17	40555795	40555795	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccgatgtaatcgtccgtGacctcatcttgacacaggca	9	11	8	13	3	3	2	1	2	2	0	6	3	4	2	3	1	0	2	3	1	1	2	rs765607390		C3N-02087_TP	C3N-02087_NB	G	G																c.84C>T	p.=	p.V28V	ENST00000246657	3/3	98	87	11	85	85	0	strelka-varscan-mutect	CCR7,synonymous_variant,p.=,ENST00000246657,NM_001301714.1,NM_001838.3;CCR7,synonymous_variant,p.=,ENST00000579344,NM_001301718.1,NM_001301716.1,NM_001301717.1;CCR7,5_prime_UTR_variant,,ENST00000578085,;	A	ENST00000246657	Transcript	synonymous_variant	147/2173	84/1137	28/378	V	gtC/gtT	rs765607390	1		-1	CCR7	HGNC	HGNC:1608	protein_coding	YES	CCDS11369.1	ENSP00000246657	P32248	A0N0Q0	UPI0000001C2F	NM_001301714.1,NM_001838.3			3/3		Prints_domain:PR00641,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF635																	LOW	1	SNV	1			1										PASS		rs765607390	.												A	2	1	89	40555795	40555795	G	A	1	0	0	0	0	0	0	0	1	2646	1277	45	3		3	CCR7	17	40555795	Silent	SNP	G	C3N-02087_TP	32881562	40555795	42701646	39	28791											
DNAJC7	0	.	GRCh38	chr17	41977318	41977318	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgaagatattgtttggatCaaaatctgtagagcagggca	13	12	11	5	0	2	3	1	1	1	2	2	4	2	4	0	2	1	4	0	2	5	5	rs781922631		C3N-02087_TP	C3N-02087_NB	C	C																c.1390G>C	p.Asp464His	p.D464H	ENST00000457167	13/14	174	159	15	152	152	0	strelka-varscan-mutect	DNAJC7,missense_variant,p.Asp464His,ENST00000457167,NM_003315.3;DNAJC7,missense_variant,p.Asp408His,ENST00000426588,NM_001144766.2;DNAJC7,missense_variant,p.Asp408His,ENST00000316603,;DNAJC7,missense_variant,p.Asp25His,ENST00000587727,;CNP,3_prime_UTR_variant,,ENST00000393892,NM_033133.4;CNP,downstream_gene_variant,,ENST00000393888,;CNP,downstream_gene_variant,,ENST00000472031,;CNP,downstream_gene_variant,,ENST00000592105,;DNAJC7,3_prime_UTR_variant,,ENST00000588814,;CNP,downstream_gene_variant,,ENST00000486438,;DNAJC7,downstream_gene_variant,,ENST00000586335,;DNAJC7,downstream_gene_variant,,ENST00000585693,;	G	ENST00000457167	Transcript	missense_variant	1627/2022	1390/1485	464/494	D/H	Gat/Cat	rs781922631	1		-1	DNAJC7	HGNC	HGNC:12392	protein_coding	YES	CCDS45677.1	ENSP00000406463	Q99615		UPI000013EC47	NM_003315.3	deleterious(0)		13/14		Gene3D:1.10.287.110,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF139,Superfamily_domains:SSF46565																	MODERATE	1	SNV	1			1										PASS		rs781922631	.												G	3	3	89	41977318	41977318	C	G	1	0	0	0	0	1	0	0	0	4467	840	29	4		4	DNAJC7	17	41977318	Missense_Mutation	SNP	C	C3N-02087_TP	1421523	41977318	41280123	40	28792											
MTCL1	0	.	GRCh38	chr18	8784030	8784030	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggcaactgacccacgagctCagcaagtttaagtttgagcc	11	8	10	12	2	1	2	1	2	0	0	1	3	1	2	2	1	4	5	2	1	3	3	novel		C3N-02087_TP	C3N-02087_NB	C	C																c.918C>T	p.=	p.L306L	ENST00000359865	6/17	153	142	11	121	120	1	strelka-varscan-mutect	MTCL1,synonymous_variant,p.=,ENST00000359865,NM_015210.3;MTCL1,synonymous_variant,p.=,ENST00000400050,;MTCL1,synonymous_variant,p.=,ENST00000517570,;MTCL1,synonymous_variant,p.=,ENST00000306329,;MTCL1,upstream_gene_variant,,ENST00000521018,;MTCL1,upstream_gene_variant,,ENST00000523811,;MTCL1,synonymous_variant,p.=,ENST00000520495,;MTCL1,upstream_gene_variant,,ENST00000517554,;	T	ENST00000359865	Transcript	synonymous_variant	1060/6093	918/4761	306/1586	L	ctC/ctT		1		1	MTCL1	HGNC	HGNC:29121	protein_coding	YES	CCDS11841.1	ENSP00000352927	Q9Y4B5		UPI0000456B5B	NM_015210.3			6/17		Pfam_domain:PF11365,hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF3																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	89	8784030	8784030	C	T	1	0	0	0	0	0	0	0	1	9900	813	29	3		3	MTCL1	18	8784030	Silent	SNP	C	C3N-02087_TP		8784030	71589255	41	28793											
SETBP1	0	.	GRCh38	chr18	44949978	44949978	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaccaaagcaccagcaaaAaagcagcagccagaaccaca	22	0	6	13	0	0	1	0	0	0	1	0	1	0	1	4	0	7	4	4	0	7	0	novel		C3N-02087_TP	C3N-02087_NB	A	A																c.638A>T	p.Lys213Ile	p.K213I	ENST00000282030	4/6	303	282	21	307	307	0	strelka-varscan-mutect	SETBP1,missense_variant,p.Lys213Ile,ENST00000282030,NM_015559.2;	T	ENST00000282030	Transcript	missense_variant	934/9899	638/4791	213/1596	K/I	aAa/aTa		1		1	SETBP1	HGNC	HGNC:15573	protein_coding	YES	CCDS11923.2	ENSP00000282030	Q9Y6X0		UPI0000201C54	NM_015559.2	deleterious(0)		4/6																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	89	44949978	44949978	A	T	1	0	0	0	0	1	0	0	0	14406	14	1	4		4	SETBP1	18	44949978	Missense_Mutation	SNP	A	C3N-02087_TP	36165948	44949978	35423307	42	28794											
S1PR4	0	.	GRCh38	chr19	3179798	3179798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgggcatgcgagggcccgggGactgcctggcccgggccgtc	3	5	19	14	4	0	0	0	0	0	0	1	2	0	1	4	6	2	1	4	6	0	0	novel		C3N-02087_TP	C3N-02087_NB	G	G																c.1006G>C	p.Asp336His	p.D336H	ENST00000246115	1/1	66	61	5	56	56	0	strelka-mutect	S1PR4,missense_variant,p.Asp336His,ENST00000246115,NM_003775.3;S1PR4,downstream_gene_variant,,ENST00000591346,;	C	ENST00000246115	Transcript	missense_variant	1031/1565	1006/1155	336/384	D/H	Gac/Cac		1		1	S1PR4	HGNC	HGNC:3170	protein_coding	YES	CCDS12105.1	ENSP00000246115	O95977		UPI0000050462	NM_003775.3	deleterious(0.03)		1/1		hmmpanther:PTHR22750:SF13,hmmpanther:PTHR22750,Prints_domain:PR01526																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	89	3179798	3179798	G	C	1	0	0	0	0	1	0	0	0	14055	1174	41	4		4	S1PR4	19	3179798	Missense_Mutation	SNP	G	C3N-02087_TP		3179798	55437818	43	28795											
TRMT1	0	.	GRCh38	chr19	13109930	13109930	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcaccggccgctggggactCctgacgctttgccgagacgc	5	7	13	16	5	1	2	1	1	0	1	2	4	2	3	4	3	1	2	4	3	0	1	novel		C3N-02087_TP	C3N-02087_NB	C	C																c.1091G>C	p.Gly364Ala	p.G364A	ENST00000592062	10/18	197	183	14	165	165	0	strelka-varscan-mutect	TRMT1,missense_variant,p.Gly364Ala,ENST00000592062,;TRMT1,missense_variant,p.Gly364Ala,ENST00000437766,NM_017722.3;TRMT1,missense_variant,p.Gly364Ala,ENST00000357720,NM_001136035.2;TRMT1,missense_variant,p.Gly150Ala,ENST00000587487,;TRMT1,intron_variant,,ENST00000221504,NM_001142554.1;TRMT1,downstream_gene_variant,,ENST00000592814,;TRMT1,downstream_gene_variant,,ENST00000593257,;TRMT1,non_coding_transcript_exon_variant,,ENST00000588511,;TRMT1,non_coding_transcript_exon_variant,,ENST00000593157,;TRMT1,downstream_gene_variant,,ENST00000587633,;TRMT1,downstream_gene_variant,,ENST00000591717,;TRMT1,upstream_gene_variant,,ENST00000585435,;TRMT1,upstream_gene_variant,,ENST00000586830,;	G	ENST00000592062	Transcript	missense_variant	1662/2579	1091/1980	364/659	G/A	gGa/gCa		1		-1	TRMT1	HGNC	HGNC:25980	protein_coding	YES	CCDS12293.1	ENSP00000466967	Q9NXH9	A0A024R7I5	UPI0000000A02		tolerated(0.73)		10/18		PROSITE_profiles:PS51626,hmmpanther:PTHR10631:SF3,hmmpanther:PTHR10631,Pfam_domain:PF02005,TIGRFAM_domain:TIGR00308																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	89	13109930	13109930	C	G	1	0	0	0	0	1	0	0	0	17060	855	30	4		4	TRMT1	19	13109930	Missense_Mutation	SNP	C	C3N-02087_TP	9930132	13109930	45507686	44	28796											
LZTR1	0	.	GRCh38	chr22	20994672	20994672	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcctccgtggacctgcAgaacgtgctggttgtgtgcg	5	9	16	11	4	0	1	0	0	0	1	1	3	1	2	3	3	4	3	3	3	1	1	novel		C3N-02087_TP	C3N-02087_NB	A	A																c.1730A>G	p.Gln577Arg	p.Q577R	ENST00000215739	15/21	260	247	13	171	171	0	strelka-varscan-mutect	LZTR1,missense_variant,p.Gln577Arg,ENST00000215739,NM_006767.3;LZTR1,upstream_gene_variant,,ENST00000415817,;LZTR1,non_coding_transcript_exon_variant,,ENST00000479606,;LZTR1,downstream_gene_variant,,ENST00000497716,;LZTR1,downstream_gene_variant,,ENST00000480895,;LZTR1,splice_acceptor_variant,,ENST00000415354,;LZTR1,missense_variant,p.Gln5Arg,ENST00000439171,;LZTR1,non_coding_transcript_exon_variant,,ENST00000495142,;LZTR1,non_coding_transcript_exon_variant,,ENST00000491432,;LZTR1,upstream_gene_variant,,ENST00000463909,;THAP7,downstream_gene_variant,,ENST00000498406,;LZTR1,upstream_gene_variant,,ENST00000498649,;LZTR1,upstream_gene_variant,,ENST00000452988,;LZTR1,downstream_gene_variant,,ENST00000414985,;LZTR1,downstream_gene_variant,,ENST00000443265,;LZTR1,downstream_gene_variant,,ENST00000492480,;LZTR1,upstream_gene_variant,,ENST00000464807,;LZTR1,downstream_gene_variant,,ENST00000461510,;	G	ENST00000215739	Transcript	missense_variant	2089/4572	1730/2523	577/840	Q/R	cAg/cGg		1		1	LZTR1	HGNC	HGNC:6742	protein_coding	YES	CCDS33606.1	ENSP00000215739	Q8N653		UPI000013C695	NM_006767.3	tolerated(0.29)		15/21		hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF285,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	89	20994672	20994672	A	G	1	0	0	0	0	1	0	0	0	9050	188	7	5		5	LZTR1	22	20994672	Missense_Mutation	SNP	A	C3N-02087_TP		20994672	29823796	45	28797											
OR4F5	0	.	GRCh38	chr1	69439	69439	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgggctttgacagatatAtagcaatatgcaagccccta	13	10	8	10	0	0	2	0	1	0	1	0	2	0	2	3	1	3	3	3	1	7	6	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.349A>G	p.Ile117Val	p.I117V	ENST00000335137	1/1	409	283	126	418	418	0	strelka-varscan-mutect	OR4F5,missense_variant,p.Ile117Val,ENST00000335137,NM_001005484.1;	G	ENST00000335137	Transcript	missense_variant	349/918	349/918	117/305	I/V	Ata/Gta		1		1	OR4F5	HGNC	HGNC:14825	protein_coding	YES	CCDS30547.1	ENSP00000334393	Q8NH21		UPI0000041BC1	NM_001005484.1	tolerated(1)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF179,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	90	69439	69439	A	G	1	0	0	0	0	1	0	0	0	11142	449	16	5		5	OR4F5	1	69439	Missense_Mutation	SNP	A	C3N-02089_TP		69439	248886983	1	28798											
PLEKHN1	0	.	GRCh38	chr1	970400	970400	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcattacgccaaggtcCagctgcggttccagcacagc	8	9	11	13	2	0	0	0	0	0	0	2	0	2	0	3	2	6	4	3	2	2	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.307C>T	p.Gln103Ter	p.Q103*	ENST00000379410	3/16	177	155	22	168	168	0	strelka-varscan-mutect	PLEKHN1,stop_gained,p.Gln103Ter,ENST00000379409,;PLEKHN1,stop_gained,p.Gln103Ter,ENST00000379410,NM_032129.2;PLEKHN1,stop_gained,p.Gln103Ter,ENST00000379407,NM_001160184.1;PERM1,downstream_gene_variant,,ENST00000433179,NM_001291366.1;PERM1,downstream_gene_variant,,ENST00000341290,NM_001291367.1;KLHL17,downstream_gene_variant,,ENST00000338591,NM_198317.2;KLHL17,downstream_gene_variant,,ENST00000622660,;PLEKHN1,upstream_gene_variant,,ENST00000491024,;PERM1,downstream_gene_variant,,ENST00000479361,;PLEKHN1,upstream_gene_variant,,ENST00000480267,;	T	ENST00000379410	Transcript	stop_gained	342/2404	307/1836	103/611	Q/*	Cag/Tag		1		1	PLEKHN1	HGNC	HGNC:25284	protein_coding	YES	CCDS4.1	ENSP00000368720	Q494U1		UPI00001416D8	NM_032129.2			3/16		Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729																	HIGH	1	SNV	1			1										PASS		rs1404948864	.												T	4	4	90	970400	970400	C	T	1	0	0	0	0	0	1	0	0	12176	595	21	3		3	PLEKHN1	1	970400	Nonsense_Mutation	SNP	C	C3N-02089_TP	900961	970400	247986022	2	28799											
AGRN	0	.	GRCh38	chr1	1020188	1020188	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccatggccggccggtccCacccgggcccgctgcggccg	2	3	16	20	7	0	0	0	0	0	0	1	0	1	0	7	5	1	1	7	5	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.16C>G	p.His6Asp	p.H6D	ENST00000379370	1/36	120	92	28	43	43	0	strelka-varscan-mutect	AGRN,missense_variant,p.His6Asp,ENST00000379370,NM_198576.3;AGRN,5_prime_UTR_variant,,ENST00000620552,NM_001305275.1;	G	ENST00000379370	Transcript	missense_variant	66/7323	16/6138	6/2045	H/D	Cac/Gac		1		1	AGRN	HGNC	HGNC:329	protein_coding	YES	CCDS30551.1	ENSP00000368678	O00468		UPI00001D7C8B	NM_198576.3	tolerated_low_confidence(0.27)		1/36		PROSITE_profiles:PS51257,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	1020188	1020188	C	G	1	0	0	0	0	1	0	0	0	476	594	21	4		4	AGRN	1	1020188	Missense_Mutation	SNP	C	C3N-02089_TP	49788	1020188	247936234	3	28800											
LRRC47	0	.	GRCh38	chr1	3781325	3781325	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaaagtgtactttttcatTtctgccattttctgcaaata	10	19	4	8	0	4	0	1	0	3	0	4	0	4	0	1	0	3	2	1	0	5	8	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1515A>C	p.Glu505Asp	p.E505D	ENST00000378251	7/7	176	148	28	154	154	0	strelka-varscan-mutect	LRRC47,missense_variant,p.Glu505Asp,ENST00000378251,NM_020710.2;RP1-286D6.5,upstream_gene_variant,,ENST00000607459,;RN7SL574P,upstream_gene_variant,,ENST00000581512,;LRRC47,3_prime_UTR_variant,,ENST00000479239,;LRRC47,non_coding_transcript_exon_variant,,ENST00000462356,;	G	ENST00000378251	Transcript	missense_variant	1543/4310	1515/1752	505/583	E/D	gaA/gaC		1		-1	LRRC47	HGNC	HGNC:29207	protein_coding	YES	CCDS51.1	ENSP00000367498	Q8N1G4	A0A024R4G1	UPI000006DEDC	NM_020710.2	deleterious(0.01)		7/7		hmmpanther:PTHR10947,hmmpanther:PTHR10947:SF3,SMART_domains:SM00873																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	3781325	3781325	T	G	1	0	0	0	0	1	0	0	0	8900	1838	64	5		5	LRRC47	1	3781325	Missense_Mutation	SNP	T	C3N-02089_TP	2761137	3781325	245175097	4	28801											
CEP104	0	.	GRCh38	chr1	3852367	3852367	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgaagccgtcttcgtgtCcagatgagctgacgactaca	10	9	10	12	3	1	4	0	3	1	1	3	5	2	4	2	0	3	1	2	0	2	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.41G>T	p.Gly14Val	p.G14V	ENST00000378230	2/22	202	172	30	178	178	0	strelka-varscan-mutect	CEP104,missense_variant,p.Gly14Val,ENST00000378230,NM_014704.3;CEP104,missense_variant,p.Gly14Val,ENST00000378223,;CEP104,missense_variant,p.Gly14Val,ENST00000428079,;DFFB,upstream_gene_variant,,ENST00000338895,NM_001320136.1,NM_001282669.1;DFFB,upstream_gene_variant,,ENST00000378209,NM_004402.3;DFFB,upstream_gene_variant,,ENST00000625756,;CEP104,non_coding_transcript_exon_variant,,ENST00000494653,;DFFB,upstream_gene_variant,,ENST00000491998,;CEP104,upstream_gene_variant,,ENST00000494951,;	A	ENST00000378230	Transcript	missense_variant	366/6424	41/2778	14/925	G/V	gGa/gTa		1		-1	CEP104	HGNC	HGNC:24866	protein_coding	YES	CCDS30571.1	ENSP00000367476	O60308		UPI0000139AA8	NM_014704.3	deleterious(0)		2/22		hmmpanther:PTHR13371:SF0,hmmpanther:PTHR13371,Superfamily_domains:SSF49785																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	90	3852367	3852367	C	A	1	0	0	0	0	1	0	0	0	2954	855	30	2		2	CEP104	1	3852367	Missense_Mutation	SNP	C	C3N-02089_TP	71042	3852367	245104055	5	28802											
KCNAB2	0	.	GRCh38	chr1	6097320	6097320	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtgctcctgggggcctccaAtgcggaccagctcatggaga	7	7	14	13	2	1	1	1	0	0	1	3	3	3	2	4	4	3	2	4	4	1	0	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1121A>T	p.Asn374Ile	p.N374I	ENST00000378083	15/16	142	125	17	109	109	0	strelka-varscan-mutect	KCNAB2,missense_variant,p.Asn326Ile,ENST00000164247,NM_001199860.1;KCNAB2,missense_variant,p.Asn326Ile,ENST00000341524,NM_003636.3;KCNAB2,missense_variant,p.Asn326Ile,ENST00000378097,NM_001199861.1;KCNAB2,missense_variant,p.Asn312Ile,ENST00000352527,NM_172130.2;KCNAB2,missense_variant,p.Asn374Ile,ENST00000378083,NM_001199862.1;KCNAB2,missense_variant,p.Asn326Ile,ENST00000602612,;KCNAB2,missense_variant,p.Asn259Ile,ENST00000458166,NM_001199863.1;KCNAB2,missense_variant,p.Asn312Ile,ENST00000378092,;KCNAB2,intron_variant,,ENST00000378111,;CHD5,downstream_gene_variant,,ENST00000262450,NM_015557.2;KCNAB2,downstream_gene_variant,,ENST00000428161,;KCNAB2,downstream_gene_variant,,ENST00000389632,;KCNAB2,non_coding_transcript_exon_variant,,ENST00000481789,;	T	ENST00000378083	Transcript	missense_variant	1410/4142	1121/1248	374/415	N/I	aAt/aTt		1		1	KCNAB2	HGNC	HGNC:6229	protein_coding	YES	CCDS55570.1	ENSP00000367323	Q13303		UPI000035E741	NM_001199862.1	deleterious(0.01)		15/16		hmmpanther:PTHR11732:SF196,hmmpanther:PTHR11732,Gene3D:3.20.20.100,Pfam_domain:PF00248,TIGRFAM_domain:TIGR01293,Superfamily_domains:SSF51430,Prints_domain:PR01578																	MODERATE		SNV	2			1										PASS		rs1034508532	.												T	3	4	90	6097320	6097320	A	T	1	0	0	0	0	1	0	0	0	7926	101	4	4		4	KCNAB2	1	6097320	Missense_Mutation	SNP	A	C3N-02089_TP	2244953	6097320	242859102	6	28803											
CHD5	0	.	GRCh38	chr1	6151033	6151033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggaaggggagtcatactCctcttcttcttgcgcctcct	5	14	9	13	1	5	0	1	0	4	0	7	2	7	2	3	3	2	0	3	3	2	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.993G>T	p.Arg331Ser	p.R331S	ENST00000262450	7/42	31	27	4	28	28	0	strelka-mutect	CHD5,missense_variant,p.Arg331Ser,ENST00000262450,NM_015557.2;CHD5,missense_variant,p.Arg331Ser,ENST00000496404,;	A	ENST00000262450	Transcript	missense_variant,splice_region_variant	1093/9646	993/5865	331/1954	R/S	agG/agT		1		-1	CHD5	HGNC	HGNC:16816	protein_coding	YES	CCDS57.1	ENSP00000262450	Q8TDI0		UPI000006CD03	NM_015557.2	tolerated(0.09)		7/42		Gene3D:3.30.40.10,Low_complexity_(Seg):seg,Superfamily_domains:SSF57903																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	6151033	6151033	C	A	1	0	0	0	0	1	0	0	0	3087	869	30	2		2	CHD5	1	6151033	Missense_Mutation	SNP	C	C3N-02089_TP	53713	6151033	242805389	7	28804											
PHF13	0	.	GRCh38	chr1	6616832	6616832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacctttgtcttggcctatGctggctacatcccttatccg	5	14	8	14	1	1	0	0	0	1	0	3	0	3	0	4	2	2	3	4	2	3	5	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.115G>T	p.Ala39Ser	p.A39S	ENST00000377648	2/4	245	191	54	215	215	0	strelka-varscan-mutect	PHF13,missense_variant,p.Ala39Ser,ENST00000377648,NM_153812.2;KLHL21,upstream_gene_variant,,ENST00000467612,;KLHL21,upstream_gene_variant,,ENST00000463043,;PHF13,intron_variant,,ENST00000495385,;	T	ENST00000377648	Transcript	missense_variant	497/3681	115/903	39/300	A/S	Gct/Tct		1		1	PHF13	HGNC	HGNC:22983	protein_coding	YES	CCDS85.1	ENSP00000366876	Q86YI8	A0A158RFV6	UPI000013C9BF	NM_153812.2	deleterious(0.05)		2/4		hmmpanther:PTHR14571																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	6616832	6616832	G	T	1	0	0	0	0	1	0	0	0	11913	1319	46	2		2	PHF13	1	6616832	Missense_Mutation	SNP	G	C3N-02089_TP	465799	6616832	242339590	8	28805											
CAMTA1	0	.	GRCh38	chr1	7664768	7664768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatcctcccgggcaacgtgGtgcagggactctaccccgtg	6	7	12	16	3	1	0	0	0	1	0	3	1	3	1	5	3	3	2	5	3	2	1	rs778144678		C3N-02089_TP	C3N-02089_NB	G	G																c.2221G>T	p.Val741Leu	p.V741L	ENST00000303635	9/23	67	55	12	64	64	0	strelka-mutect	CAMTA1,missense_variant,p.Val741Leu,ENST00000303635,NM_015215.3;	T	ENST00000303635	Transcript	missense_variant	2428/8444	2221/5022	741/1673	V/L	Gtg/Ttg	rs778144678	1		1	CAMTA1	HGNC	HGNC:18806	protein_coding	YES	CCDS30576.1	ENSP00000306522	Q9Y6Y1		UPI00001C1D72	NM_015215.3	deleterious_low_confidence(0.05)		9/23		hmmpanther:PTHR23335:SF11,hmmpanther:PTHR23335																	MODERATE	1	SNV	1			1										PASS		rs778144678	.												T	3	4	90	7664768	7664768	G	T	1	0	0	0	0	1	0	0	0	2306	1261	44	2		2	CAMTA1	1	7664768	Missense_Mutation	SNP	G	C3N-02089_TP	1047936	7664768	241291654	9	28806											
CAMTA1	0	.	GRCh38	chr1	7732504	7732504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagatggagaggaggatgGccgagatgacggggtcccag	11	4	19	7	2	0	4	0	1	0	3	1	8	1	6	2	6	1	1	2	6	0	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2971G>T	p.Ala991Ser	p.A991S	ENST00000303635	12/23	230	182	48	188	187	1	strelka-varscan-mutect	CAMTA1,missense_variant,p.Ala991Ser,ENST00000303635,NM_015215.3;CAMTA1,upstream_gene_variant,,ENST00000495233,;	T	ENST00000303635	Transcript	missense_variant	3178/8444	2971/5022	991/1673	A/S	Gcc/Tcc		1		1	CAMTA1	HGNC	HGNC:18806	protein_coding	YES	CCDS30576.1	ENSP00000306522	Q9Y6Y1		UPI00001C1D72	NM_015215.3	deleterious(0.02)		12/23		hmmpanther:PTHR23335:SF11,hmmpanther:PTHR23335																	MODERATE	1	SNV	1			1										PASS		rs1315636304	.												T	3	4	90	7732504	7732504	G	T	1	0	0	0	0	1	0	0	0	2306	1203	42	2		2	CAMTA1	1	7732504	Missense_Mutation	SNP	G	C3N-02089_TP	67736	7732504	241223918	10	28807											
CAMTA1	0	.	GRCh38	chr1	7745874	7745874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taacgagcctctaaccccttCttctaataccagcttgagcc	10	11	5	15	1	3	1	0	1	3	0	3	2	3	1	5	0	6	1	5	0	4	7	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.4400C>T	p.Ser1467Phe	p.S1467F	ENST00000303635	18/23	208	180	28	210	210	0	strelka-varscan-mutect	CAMTA1,missense_variant,p.Ser1467Phe,ENST00000303635,NM_015215.3;CAMTA1,missense_variant,p.Ser424Phe,ENST00000495233,;CAMTA1,missense_variant,p.Ser31Phe,ENST00000476864,;CAMTA1,intron_variant,,ENST00000490905,;	T	ENST00000303635	Transcript	missense_variant	4607/8444	4400/5022	1467/1673	S/F	tCt/tTt		1		1	CAMTA1	HGNC	HGNC:18806	protein_coding	YES	CCDS30576.1	ENSP00000306522	Q9Y6Y1		UPI00001C1D72	NM_015215.3	deleterious(0.01)		18/23		Low_complexity_(Seg):seg,hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	7745874	7745874	C	T	1	0	0	0	0	1	0	0	0	2306	913	32	3		3	CAMTA1	1	7745874	Missense_Mutation	SNP	C	C3N-02089_TP	13370	7745874	241210548	11	28808											
DISP3	0	.	GRCh38	chr1	11514490	11514490	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatcagcagcagctgcAttgctgccctggtctacatc	7	11	8	15	0	3	0	2	0	1	0	4	0	3	0	2	1	7	5	2	1	1	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1417A>T	p.Ile473Phe	p.I473F	ENST00000294484	4/21	152	121	31	139	139	0	strelka-varscan-mutect	DISP3,missense_variant,p.Ile473Phe,ENST00000294484,NM_020780.1;	T	ENST00000294484	Transcript	missense_variant	1555/5215	1417/4179	473/1392	I/F	Att/Ttt		1		1	DISP3	HGNC	HGNC:29251	protein_coding	YES	CCDS41247.1	ENSP00000294484	Q9P2K9		UPI00001C1D7A	NM_020780.1	deleterious(0)		4/21		Transmembrane_helices:TMhelix,hmmpanther:PTHR10796:SF125,hmmpanther:PTHR10796,Gene3D:2j8sB01,Pfam_domain:PF02460,Superfamily_domains:SSF82866																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	11514490	11514490	A	T	1	0	0	0	0	1	0	0	0	4347	217	8	4		4	DISP3	1	11514490	Missense_Mutation	SNP	A	C3N-02089_TP	3768616	11514490	237441932	12	28809											
PRAMEF10	0	.	GRCh38	chr1	12894981	12894981	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcattcatccagtgtactTtcctttaggcagaggtctat	9	14	9	9	0	2	1	1	0	1	1	4	1	4	1	2	3	1	3	2	3	3	6	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.471A>C	p.Glu157Asp	p.E157D	ENST00000235347	3/4	168	150	18	170	170	0	varscan-mutect	PRAMEF10,missense_variant,p.Glu157Asp,ENST00000235347,NM_001039361.4;	G	ENST00000235347	Transcript	missense_variant	551/1525	471/1425	157/474	E/D	gaA/gaC		1		-1	PRAMEF10	HGNC	HGNC:27997	protein_coding	YES	CCDS41255.1	ENSP00000235347	O60809		UPI000442CF00	NM_001039361.4	tolerated(0.07)		3/4		hmmpanther:PTHR14224:SF28,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286																	MODERATE	1	SNV	1			1										PASS		rs1238869647	.												G	3	3	90	12894981	12894981	T	G	1	0	0	0	0	1	0	0	0	12555	1838	64	5		5	PRAMEF10	1	12894981	Missense_Mutation	SNP	T	C3N-02089_TP	1380491	12894981	236061441	13	28810											
PRAMEF7	0	.	GRCh38	chr1	12920213	12920213	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctgagcaagctaagcctgGagctgtatcctgcccctctg	7	9	12	13	0	1	1	0	1	1	0	2	2	2	2	4	2	5	5	4	2	3	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1225G>T	p.Glu409Ter	p.E409*	ENST00000616979	4/4	662	622	40	557	557	0	varscan-mutect	PRAMEF7,stop_gained,p.Glu409Ter,ENST00000616979,NM_001012277.4;PRAMEF7,stop_gained,p.Glu409Ter,ENST00000330881,;RNU6-1072P,upstream_gene_variant,,ENST00000384703,;	T	ENST00000616979	Transcript	stop_gained	1323/1592	1225/1425	409/474	E/*	Gag/Tag		1		1	PRAMEF7	HGNC	HGNC:28415	protein_coding	YES	CCDS30593.1	ENSP00000484237	Q5VXH5		UPI000058F1DF	NM_001012277.4			4/4		PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30,Superfamily_domains:SSF52047																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	90	12920213	12920213	G	T	1	0	0	0	0	0	1	0	0	12569	1175	41	2		2	PRAMEF7	1	12920213	Nonsense_Mutation	SNP	G	C3N-02089_TP	25232	12920213	236036209	14	28811											
PRAMEF8	0	.	GRCh38	chr1	13281571	13281571	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaggggcaggatacagctCcaggcttagcttgctcagcc	9	7	13	12	0	1	1	1	0	0	1	2	2	2	2	2	4	5	5	2	4	2	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1225G>T	p.Glu409Ter	p.E409*	ENST00000357367	4/4	119	112	7	91	91	0	varscan-mutect	PRAMEF8,stop_gained,p.Glu409Ter,ENST00000357367,NM_001012276.3;PRAMEF8,stop_gained,p.Glu409Ter,ENST00000621519,;PRAMEF8,stop_gained,p.Glu409Ter,ENST00000614831,;RNU6-443P,upstream_gene_variant,,ENST00000384780,;	A	ENST00000357367	Transcript	stop_gained	1308/1844	1225/1425	409/474	E/*	Gag/Tag		1		-1	PRAMEF8	HGNC	HGNC:24074	protein_coding	YES	CCDS72709.1	ENSP00000349931	Q5VWM4		UPI000191706C	NM_001012276.3			4/4		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	90	13281571	13281571	C	A	1	0	0	0	0	0	1	0	0	12570	864	30	2		2	PRAMEF8	1	13281571	Nonsense_Mutation	SNP	C	C3N-02089_TP	361358	13281571	235674851	15	28812											
CLCNKA	0	.	GRCh38	chr1	16029232	16029232	+	Frame_Shift_Del	DEL	T	T	-																															ggagctcgacccccagcaccTttggtgggaatggtaccacc																								novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1162delT	p.Trp388GlyfsTer21	p.W388Gfs*21	ENST00000331433	12/20	247	211	36	273	273	0	sindel-varindel	CLCNKA,frameshift_variant,p.Trp388GlyfsTer21,ENST00000375692,NM_001042704.1;CLCNKA,frameshift_variant,p.Trp388GlyfsTer21,ENST00000331433,NM_004070.3;CLCNKA,frameshift_variant,p.Trp345GlyfsTer21,ENST00000439316,NM_001257139.1;CLCNKA,non_coding_transcript_exon_variant,,ENST00000464764,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000491433,;CLCNKA,downstream_gene_variant,,ENST00000495784,;	-	ENST00000331433	Transcript	frameshift_variant	1179/2475	1160/2064	387/687	L/X	cTt/ct		1		1	CLCNKA	HGNC	HGNC:2026	protein_coding	YES	CCDS167.1	ENSP00000332771	P51800		UPI0000127993	NM_004070.3			12/20		Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF95																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	90	16029232	16029232	T	-	1	0	1	0	1	0	0	0	0	3233	1609	56	0		0	CLCNKA	1	16029232	Frame_Shift_Del	DEL	T	C3N-02089_TP	2747661	16029232	232927190	16	28813											
FBXO42	0	.	GRCh38	chr1	16251492	16251492	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctgccgttcctggagaCaaactcccaccattgaggat	11	8	9	13	1	0	2	0	1	0	1	2	4	2	3	4	2	3	2	4	2	1	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1332G>C	p.Leu444Phe	p.L444F	ENST00000375592	10/10	343	306	37	333	333	0	strelka-varscan-mutect	FBXO42,missense_variant,p.Leu444Phe,ENST00000375592,NM_018994.2;FBXO42,missense_variant,p.Leu162Phe,ENST00000456164,;FBXO42,missense_variant,p.Leu162Phe,ENST00000444116,;	G	ENST00000375592	Transcript	missense_variant	1549/6202	1332/2154	444/717	L/F	ttG/ttC		1		-1	FBXO42	HGNC	HGNC:29249	protein_coding	YES	CCDS30613.1	ENSP00000364742	Q6P3S6	A0A024QZB0	UPI0000161A51	NM_018994.2	tolerated(0.72)		10/10		hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF316																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	16251492	16251492	C	G	1	0	0	0	0	1	0	0	0	5614	477	17	4		4	FBXO42	1	16251492	Missense_Mutation	SNP	C	C3N-02089_TP	222260	16251492	232704930	17	28814											
CROCC	0	.	GRCh38	chr1	16939124	16939124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccactccgccctgcacaaGcgccagctgcaggtccaggt	8	6	10	17	2	0	0	0	0	0	0	3	0	3	0	5	2	4	3	5	2	1	0	rs749944892		C3N-02089_TP	C3N-02089_NB	G	G																c.1590G>T	p.Lys530Asn	p.K530N	ENST00000375541	12/37	86	74	12	56	56	0	strelka-varscan-mutect	CROCC,missense_variant,p.Lys530Asn,ENST00000375541,NM_014675.4;CROCC,missense_variant,p.Lys390Asn,ENST00000445545,;CROCC,missense_variant,p.Lys424Asn,ENST00000467938,;CROCC,missense_variant,p.Lys132Asn,ENST00000467715,;CROCC,non_coding_transcript_exon_variant,,ENST00000466256,;CROCC,non_coding_transcript_exon_variant,,ENST00000492631,;CROCC,non_coding_transcript_exon_variant,,ENST00000494191,;	T	ENST00000375541	Transcript	missense_variant	1659/6656	1590/6054	530/2017	K/N	aaG/aaT	rs749944892	1		1	CROCC	HGNC	HGNC:21299	protein_coding	YES	CCDS30616.1	ENSP00000364691	Q5TZA2		UPI000042B0BB	NM_014675.4	tolerated(0.26)		12/37		hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF17																	MODERATE	1	SNV	5			1										PASS		rs749944892	.												T	3	4	90	16939124	16939124	G	T	1	0	0	0	0	1	0	0	0	3694	962	34	2		2	CROCC	1	16939124	Missense_Mutation	SNP	G	C3N-02089_TP	687632	16939124	232017298	18	28815											
TAS1R2	0	.	GRCh38	chr1	18854588	18854588	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcgatccacacggcgccAgtgaagttctggcgcagcac	9	5	14	13	4	1	1	0	1	1	0	2	3	2	1	2	3	1	3	2	3	1	1	rs28470550		C3N-02089_TP	C3N-02089_NB	A	A																c.882T>A	p.=	p.T294T	ENST00000375371	3/6	236	201	35	229	229	0	strelka-varscan-mutect	TAS1R2,synonymous_variant,p.=,ENST00000375371,NM_152232.2;RP13-279N23.2,3_prime_UTR_variant,,ENST00000494072,;	T	ENST00000375371	Transcript	synonymous_variant	904/2542	882/2520	294/839	T	acT/acA	rs28470550	1		-1	TAS1R2	HGNC	HGNC:14905	protein_coding	YES	CCDS187.1	ENSP00000364520	Q8TE23		UPI0000456168	NM_152232.2			3/6		hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF441,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822												19092995					LOW	1	SNV	2			1										PASS		rs28470550	.												T	2	4	90	18854588	18854588	A	T	1	0	0	0	0	0	0	0	1	15962	175	7	4		4	TAS1R2	1	18854588	Silent	SNP	A	C3N-02089_TP	1915464	18854588	230101834	19	28816											
TAS1R2	0	.	GRCh38	chr1	18857559	18857559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaggcagcaggctgctGtcattgttgatctcctccac	8	10	9	14	0	2	1	1	1	1	0	4	1	3	1	3	2	2	5	3	2	0	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.255C>A	p.Asp85Glu	p.D85E	ENST00000375371	2/6	228	165	63	229	228	1	strelka-varscan-mutect	TAS1R2,missense_variant,p.Asp85Glu,ENST00000375371,NM_152232.2;RP13-279N23.2,3_prime_UTR_variant,,ENST00000494072,;	T	ENST00000375371	Transcript	missense_variant	277/2542	255/2520	85/839	D/E	gaC/gaA		1		-1	TAS1R2	HGNC	HGNC:14905	protein_coding	YES	CCDS187.1	ENSP00000364520	Q8TE23		UPI0000456168	NM_152232.2	tolerated(0.72)		2/6		hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF441,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR00248																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	90	18857559	18857559	G	T	1	0	0	0	0	1	0	0	0	15962	1368	48	2		2	TAS1R2	1	18857559	Missense_Mutation	SNP	G	C3N-02089_TP	2971	18857559	230098863	20	28817											
ALDH4A1	0	.	GRCh38	chr1	18883374	18883374	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacttggcattgaaccggaAgaagtcgatgagttccgctg	11	10	12	8	3	0	3	0	2	0	1	2	5	1	4	2	2	2	3	2	2	4	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.508T>C	p.Phe170Leu	p.F170L	ENST00000375341	6/15	344	307	37	280	280	0	strelka-varscan-mutect	ALDH4A1,missense_variant,p.Phe170Leu,ENST00000375341,NM_003748.3;ALDH4A1,missense_variant,p.Phe170Leu,ENST00000538839,NM_001319218.1;ALDH4A1,missense_variant,p.Phe170Leu,ENST00000290597,NM_170726.2;ALDH4A1,missense_variant,p.Phe110Leu,ENST00000538309,NM_001161504.1;ALDH4A1,missense_variant,p.Phe154Leu,ENST00000432718,;MIR4695,upstream_gene_variant,,ENST00000577305,;ALDH4A1,non_coding_transcript_exon_variant,,ENST00000454547,;RP13-279N23.2,3_prime_UTR_variant,,ENST00000494072,;	G	ENST00000375341	Transcript	missense_variant	766/3363	508/1692	170/563	F/L	Ttc/Ctc		1		-1	ALDH4A1	HGNC	HGNC:406	protein_coding	YES	CCDS188.1	ENSP00000364490	P30038	A0A024RAD8	UPI000007418C	NM_003748.3	tolerated(0.63)		6/15		hmmpanther:PTHR14516,hmmpanther:PTHR14516:SF1,Gene3D:3.40.605.10,Pfam_domain:PF00171,TIGRFAM_domain:TIGR01236,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	18883374	18883374	A	G	1	0	0	0	0	1	0	0	0	601	72	3	5		5	ALDH4A1	1	18883374	Missense_Mutation	SNP	A	C3N-02089_TP	25815	18883374	230073048	21	28818											
UBR4	0	.	GRCh38	chr1	19148074	19148074	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacactggcaggtgcTggcagggacaacagcaaagt	11	6	15	9	0	0	0	0	0	0	0	0	2	0	2	0	5	4	5	0	5	2	0	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.7548A>T	p.=	p.P2516P	ENST00000375254	51/106	160	120	40	161	161	0	strelka-varscan-mutect	UBR4,synonymous_variant,p.=,ENST00000375254,NM_020765.2;UBR4,synonymous_variant,p.=,ENST00000417040,;UBR4,synonymous_variant,p.=,ENST00000425413,;UBR4,upstream_gene_variant,,ENST00000465036,;UBR4,downstream_gene_variant,,ENST00000419533,;	A	ENST00000375254	Transcript	synonymous_variant	7576/15906	7548/15552	2516/5183	P	ccA/ccT		1		-1	UBR4	HGNC	HGNC:30313	protein_coding	YES	CCDS189.1	ENSP00000364403	Q5T4S7		UPI000021276F	NM_020765.2			51/106		Low_complexity_(Seg):seg,hmmpanther:PTHR21725																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	19148074	19148074	T	A	1	0	0	0	0	0	0	0	1	17428	1567	55	4		4	UBR4	1	19148074	Silent	SNP	T	C3N-02089_TP	264700	19148074	229808348	22	28819											
SH2D5	0	.	GRCh38	chr1	20721956	20721956	+	Frame_Shift_Del	DEL	C	C	-																															ttcagtaaccgcgtggttctCcaccagagcctccaggctgg																								novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1108delG	p.Glu370ArgfsTer19	p.E370Rfs*19	ENST00000444387	10/10	129	114	15	133	133	0	sindel-varindel	SH2D5,frameshift_variant,p.Glu286ArgfsTer19,ENST00000375031,NM_001103160.1;SH2D5,frameshift_variant,p.Glu370ArgfsTer19,ENST00000444387,NM_001103161.1;KIF17,upstream_gene_variant,,ENST00000247986,NM_020816.3;KIF17,upstream_gene_variant,,ENST00000400463,NM_001122819.2;KIF17,upstream_gene_variant,,ENST00000375044,NM_001287212.1;SH2D5,downstream_gene_variant,,ENST00000517430,;SH2D5,downstream_gene_variant,,ENST00000447746,;SH2D5,downstream_gene_variant,,ENST00000518294,;SH2D5,non_coding_transcript_exon_variant,,ENST00000460804,;	-	ENST00000444387	Transcript	frameshift_variant	1506/1934	1108/1272	370/423	E/X	Gag/ag		1		-1	SH2D5	HGNC	HGNC:28819	protein_coding	YES	CCDS44080.1	ENSP00000406026	Q6ZV89		UPI0000EE70C3	NM_001103161.1			10/10		PROSITE_profiles:PS50001,Gene3D:3.30.505.10,Superfamily_domains:SSF55550																	HIGH		deletion	2			1										PASS		.	.												-	7	5	90	20721956	20721956	C	-	1	0	1	0	1	0	0	0	0	14495	864	30	0		0	SH2D5	1	20721956	Frame_Shift_Del	DEL	C	C3N-02089_TP	1573882	20721956	228234466	23	28820	605	2									
SH2D5	0	.	GRCh38	chr1	20721957	20721957	+	Silent	SNP	C	C	G																															tcagtaaccgcgtggttctcCaccagagcctccaggctggg																								rs779679323		C3N-02089_TP	C3N-02089_NB	C	C																c.1107G>C	p.=	p.V369V	ENST00000444387	10/10	143	126	17	132	132	0	strelka-mutect	SH2D5,synonymous_variant,p.=,ENST00000375031,NM_001103160.1;SH2D5,synonymous_variant,p.=,ENST00000444387,NM_001103161.1;KIF17,upstream_gene_variant,,ENST00000247986,NM_020816.3;KIF17,upstream_gene_variant,,ENST00000400463,NM_001122819.2;KIF17,upstream_gene_variant,,ENST00000375044,NM_001287212.1;SH2D5,downstream_gene_variant,,ENST00000517430,;SH2D5,downstream_gene_variant,,ENST00000447746,;SH2D5,downstream_gene_variant,,ENST00000518294,;SH2D5,non_coding_transcript_exon_variant,,ENST00000460804,;	G	ENST00000444387	Transcript	synonymous_variant	1505/1934	1107/1272	369/423	V	gtG/gtC	rs779679323	1		-1	SH2D5	HGNC	HGNC:28819	protein_coding	YES	CCDS44080.1	ENSP00000406026	Q6ZV89		UPI0000EE70C3	NM_001103161.1			10/10		PROSITE_profiles:PS50001,Gene3D:3.30.505.10,Superfamily_domains:SSF55550																	LOW		SNV	2			1										PASS		rs779679323	.												G	2	3	90	20721957	20721957	C	G	1	0	0	0	0	0	0	0	1	14495	581	21	4		4	SH2D5	1	20721957	Silent	SNP	C	C3N-02089_TP	1	20721957	228234465	24	28821	605	2									
MYOM3	0	.	GRCh38	chr1	24076231	24076231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagctgaattcatggcctGtacctggaacacgtaactct	11	10	8	12	1	2	1	1	1	1	0	2	2	2	2	3	2	4	3	3	2	4	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2629C>A	p.Gln877Lys	p.Q877K	ENST00000374434	21/37	298	236	62	251	251	0	strelka-varscan-mutect	MYOM3,missense_variant,p.Gln877Lys,ENST00000374434,NM_152372.3;RP11-293P20.4,intron_variant,,ENST00000429191,;RP11-293P20.2,intron_variant,,ENST00000439239,;MYOM3,intron_variant,,ENST00000448831,;	T	ENST00000374434	Transcript	missense_variant	2792/5804	2629/4314	877/1437	Q/K	Cag/Aag		1		-1	MYOM3	HGNC	HGNC:26679	protein_coding	YES	CCDS41281.1	ENSP00000363557	Q5VTT5		UPI0000203A5D	NM_152372.3	tolerated(0.09)		21/37		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265,Prints_domain:PR00014																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	24076231	24076231	G	T	1	0	0	0	0	1	0	0	0	10094	1386	48	2		2	MYOM3	1	24076231	Missense_Mutation	SNP	G	C3N-02089_TP	3354274	24076231	224880191	25	28822											
OPRD1	0	.	GRCh38	chr1	28863113	28863113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagcagcctcaaccccgtgCtctacgctttcctcgacgag	8	9	8	16	4	2	0	1	0	1	0	4	2	3	0	4	0	5	3	4	0	3	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.949C>T	p.Leu317Phe	p.L317F	ENST00000234961	3/3	121	108	13	94	94	0	strelka-varscan-mutect	OPRD1,missense_variant,p.Leu317Phe,ENST00000234961,NM_000911.3;OPRD1,missense_variant,p.Leu269Phe,ENST00000621425,;	T	ENST00000234961	Transcript	missense_variant	1191/9345	949/1119	317/372	L/F	Ctc/Ttc		1		1	OPRD1	HGNC	HGNC:8153	protein_coding	YES	CCDS329.1	ENSP00000234961	P41143		UPI0000130D94	NM_000911.3	deleterious(0)		3/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF2,hmmpanther:PTHR24229,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	28863113	28863113	C	T	1	0	0	0	0	1	0	0	0	10960	797	28	3		3	OPRD1	1	28863113	Missense_Mutation	SNP	C	C3N-02089_TP	4786882	28863113	220093309	26	28823											
PUM1	0	.	GRCh38	chr1	30945400	30945400	+	Frame_Shift_Del	DEL	A	A	-																															gactggggctgtacacattcAatgcatttctgaaccacgtg																								novel		C3N-02089_TP	C3N-02089_NB	A	A																c.2940delT	p.Ile980MetfsTer32	p.I980Mfs*32	ENST00000426105	18/22	283	260	23	267	267	0	sindel-varindel-pindel	PUM1,frameshift_variant,p.Ile981MetfsTer32,ENST00000373747,;PUM1,frameshift_variant,p.Ile978MetfsTer32,ENST00000257075,NM_014676.2;PUM1,frameshift_variant,p.Ile736MetfsTer32,ENST00000424085,;PUM1,frameshift_variant,p.Ile917MetfsTer32,ENST00000525843,;PUM1,frameshift_variant,p.Ile1016MetfsTer32,ENST00000373741,;PUM1,frameshift_variant,p.Ile980MetfsTer32,ENST00000426105,NM_001020658.1;PUM1,frameshift_variant,p.Ile954MetfsTer32,ENST00000440538,;PUM1,frameshift_variant,p.Ile919MetfsTer32,ENST00000373742,;PUM1,frameshift_variant,p.Ile692MetfsTer32,ENST00000498419,;PUM1,frameshift_variant,p.Ile131MetfsTer26,ENST00000529846,;PUM1,intron_variant,,ENST00000525997,;PUM1,downstream_gene_variant,,ENST00000527498,;PUM1,upstream_gene_variant,,ENST00000530669,;	-	ENST00000426105	Transcript	frameshift_variant	3031/4043	2940/3567	980/1188	I/X	atT/at		1		-1	PUM1	HGNC	HGNC:14957	protein_coding	YES	CCDS44099.1	ENSP00000391723	Q14671		UPI0000203D8E	NM_001020658.1			18/22		Gene3D:1.25.10.10,Pfam_domain:PF00806,PROSITE_profiles:PS50302,PROSITE_profiles:PS50303,hmmpanther:PTHR12537,hmmpanther:PTHR12537:SF1,SMART_domains:SM00025,Superfamily_domains:SSF48371																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	90	30945400	30945400	A	-	1	0	1	0	1	0	0	0	0	12982	126	5	0		0	PUM1	1	30945400	Frame_Shift_Del	DEL	A	C3N-02089_TP	2082287	30945400	218011022	27	28824											
ADGRB2	0	.	GRCh38	chr1	31728270	31728270	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgccgtttccgggtgTgcatcaccttctaggggcca	6	11	12	12	2	2	1	1	1	1	0	3	1	3	1	4	3	2	2	4	3	2	3	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.4424A>T	p.His1475Leu	p.H1475L	ENST00000373655	31/33	373	283	90	308	307	1	strelka-varscan-mutect	ADGRB2,missense_variant,p.His1476Leu,ENST00000373658,;ADGRB2,missense_variant,p.His1475Leu,ENST00000373655,NM_001294335.1;ADGRB2,missense_variant,p.His1376Leu,ENST00000398542,;ADGRB2,missense_variant,p.His1442Leu,ENST00000527361,NM_001294336.1;ADGRB2,missense_variant,p.His1391Leu,ENST00000398556,;ADGRB2,missense_variant,p.His1409Leu,ENST00000398547,;ADGRB2,missense_variant,p.His1464Leu,ENST00000398538,;ADGRB2,non_coding_transcript_exon_variant,,ENST00000465256,;ADGRB2,non_coding_transcript_exon_variant,,ENST00000530999,;	A	ENST00000373655	Transcript	missense_variant	4766/5400	4424/4755	1475/1584	H/L	cAc/cTc		1		-1	ADGRB2	HGNC	HGNC:944	protein_coding	YES	CCDS72747.1	ENSP00000362759	O60241		UPI000046FEC7	NM_001294335.1	deleterious(0)		31/33		Prints_domain:PR01694																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	31728270	31728270	T	A	1	0	0	0	0	1	0	0	0	356	1696	59	4		4	ADGRB2	1	31728270	Missense_Mutation	SNP	T	C3N-02089_TP	782870	31728270	217228152	28	28825											
CSMD2	0	.	GRCh38	chr1	33600966	33600966	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttcttggccatgctcCgggtgaagacgccgagccgt	5	11	13	12	4	1	2	0	1	1	1	2	3	2	2	4	2	2	2	4	2	1	3	rs140769172		C3N-02089_TP	C3N-02089_NB	C	C																c.6755G>C	p.Arg2252Pro	p.R2252P	ENST00000373381	44/71	231	200	31	182	182	0	strelka-varscan-mutect	CSMD2,missense_variant,p.Arg2252Pro,ENST00000373381,NM_001281956.1;CSMD2,missense_variant,p.Arg2212Pro,ENST00000619121,;CSMD2,missense_variant,p.Arg2254Pro,ENST00000373388,NM_052896.4;CSMD2,missense_variant,p.Arg1125Pro,ENST00000373380,;CSMD2,missense_variant,p.Arg351Pro,ENST00000373377,;CSMD2,non_coding_transcript_exon_variant,,ENST00000489419,;CSMD2,missense_variant,p.Arg2254Pro,ENST00000241312,;	G	ENST00000373381	Transcript	missense_variant	6932/13698	6755/10896	2252/3631	R/P	cGg/cCg	rs140769172,COSM3736700,COSM3736701,COSM3736702	1		-1	CSMD2	HGNC	HGNC:19290	protein_coding	YES	CCDS60082.1	ENSP00000362479	Q7Z408		UPI0000578D0B	NM_001281956.1	deleterious(0.02)		44/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs140769172	.												G	3	3	90	33600966	33600966	C	G	1	0	0	0	0	1	0	0	0	3746	652	23	4		4	CSMD2	1	33600966	Missense_Mutation	SNP	C	C3N-02089_TP	1872696	33600966	215355456	29	28826											
OSCP1	0	.	GRCh38	chr1	36438895	36438895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctattgaacatggtggagAtgatgtcattcagaactgca	12	13	10	6	0	3	4	2	2	1	2	3	5	3	4	0	2	3	1	0	2	3	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.128T>C	p.Ile43Thr	p.I43T	ENST00000235532	2/10	89	83	6	88	88	0	strelka-mutect	OSCP1,missense_variant,p.Ile53Thr,ENST00000356637,;OSCP1,missense_variant,p.Ile43Thr,ENST00000235532,NM_145047.4;OSCP1,missense_variant,p.Ile13Thr,ENST00000445843,;OSCP1,missense_variant,p.Ile43Thr,ENST00000354267,NM_206837.2;OSCP1,5_prime_UTR_variant,,ENST00000433045,;OSCP1,3_prime_UTR_variant,,ENST00000524789,;OSCP1,non_coding_transcript_exon_variant,,ENST00000528112,;	G	ENST00000235532	Transcript	missense_variant	210/1455	128/1140	43/379	I/T	aTc/aCc		1		-1	OSCP1	HGNC	HGNC:29971	protein_coding	YES	CCDS409.2	ENSP00000235532	Q8WVF1		UPI000059CFA3	NM_145047.4	deleterious(0.04)		2/10		Pfam_domain:PF10188,hmmpanther:PTHR21439																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	36438895	36438895	A	G	1	0	0	0	0	1	0	0	0	11352	333	12	5		5	OSCP1	1	36438895	Missense_Mutation	SNP	A	C3N-02089_TP	2837929	36438895	212517527	30	28827											
GNL2	0	.	GRCh38	chr1	37574444	37574444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccacagtctgcaagtCgggctctccaccctgaaagg	9	8	9	15	1	2	1	0	1	2	0	4	1	2	1	3	2	2	2	3	2	3	1	rs373181030		C3N-02089_TP	C3N-02089_NB	C	C																c.1315G>T	p.Asp439Tyr	p.D439Y	ENST00000373062	12/16	198	132	66	188	188	0	strelka-varscan-mutect	GNL2,missense_variant,p.Asp439Tyr,ENST00000373062,NM_013285.2;GNL2,downstream_gene_variant,,ENST00000538069,;GNL2,upstream_gene_variant,,ENST00000462812,;GNL2,downstream_gene_variant,,ENST00000469191,;	A	ENST00000373062	Transcript	missense_variant	1414/2334	1315/2196	439/731	D/Y	Gac/Tac	rs373181030,COSM1687476	1		-1	GNL2	HGNC	HGNC:29925	protein_coding	YES	CCDS421.1	ENSP00000362153	Q13823	Q5T0F3	UPI0000000C9E	NM_013285.2	deleterious(0)		12/16		Gene3D:1pujA02,hmmpanther:PTHR11089,hmmpanther:PTHR11089:SF9											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs373181030	.												A	3	1	90	37574444	37574444	C	A	1	0	0	0	0	1	0	0	0	6415	884	31	1		1	GNL2	1	37574444	Missense_Mutation	SNP	C	C3N-02089_TP	1135549	37574444	211381978	31	28828											
PABPC4	0	.	GRCh38	chr1	39565132	39565132	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgctggcacaaagtagcCacccgctgcaggctggaact	10	6	12	13	1	0	0	0	0	0	0	0	2	0	1	2	3	4	6	2	3	3	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1219G>T	p.Gly407Cys	p.G407C	ENST00000372858	8/16	140	91	49	129	129	0	strelka-varscan-mutect	PABPC4,missense_variant,p.Gly407Cys,ENST00000372857,NM_003819.3;PABPC4,missense_variant,p.Gly407Cys,ENST00000372856,NM_001135654.1;PABPC4,missense_variant,p.Gly407Cys,ENST00000372858,NM_001135653.1;PABPC4,missense_variant,p.Gly407Cys,ENST00000372862,;PABPC4,missense_variant,p.Gly309Cys,ENST00000421687,;PABPC4,missense_variant,p.Gly134Cys,ENST00000527718,;PABPC4,upstream_gene_variant,,ENST00000437136,;PABPC4,downstream_gene_variant,,ENST00000474378,;PABPC4,upstream_gene_variant,,ENST00000530186,;SNORA55,downstream_gene_variant,,ENST00000364587,;RP11-69E11.8,upstream_gene_variant,,ENST00000415255,;PABPC4,downstream_gene_variant,,ENST00000529216,;PABPC4,3_prime_UTR_variant,,ENST00000470443,;PABPC4,non_coding_transcript_exon_variant,,ENST00000525045,;PABPC4,non_coding_transcript_exon_variant,,ENST00000525669,;PABPC4,non_coding_transcript_exon_variant,,ENST00000483770,;PABPC4,upstream_gene_variant,,ENST00000468476,;PABPC4,upstream_gene_variant,,ENST00000492468,;PABPC4,downstream_gene_variant,,ENST00000513632,;PABPC4,upstream_gene_variant,,ENST00000482028,;PABPC4,downstream_gene_variant,,ENST00000525751,;PABPC4,upstream_gene_variant,,ENST00000484555,;PABPC4,upstream_gene_variant,,ENST00000477556,;PABPC4,downstream_gene_variant,,ENST00000492519,;PABPC4,upstream_gene_variant,,ENST00000461578,;	A	ENST00000372858	Transcript	missense_variant	1669/2753	1219/1983	407/660	G/C	Ggc/Tgc		1		-1	PABPC4	HGNC	HGNC:8557	protein_coding	YES	CCDS44115.1	ENSP00000361949	Q13310		UPI00002057C5	NM_001135653.1	deleterious(0)		8/16		hmmpanther:PTHR24012:SF365,hmmpanther:PTHR24012,TIGRFAM_domain:TIGR01628																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	39565132	39565132	C	A	1	0	0	0	0	1	0	0	0	11443	594	21	2		2	PABPC4	1	39565132	Missense_Mutation	SNP	C	C3N-02089_TP	1990688	39565132	209391290	32	28829											
HIVEP3	0	.	GRCh38	chr1	41584006	41584006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccagggatccgctccatCtccagcccatgtgggtacat	7	9	9	16	1	1	0	0	0	1	0	5	1	4	1	6	2	2	2	6	2	1	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.792G>T	p.Glu264Asp	p.E264D	ENST00000372583	4/9	195	177	18	178	178	0	strelka-varscan-mutect	HIVEP3,missense_variant,p.Glu264Asp,ENST00000372584,NM_001127714.2;HIVEP3,missense_variant,p.Glu264Asp,ENST00000372583,NM_024503.4;HIVEP3,upstream_gene_variant,,ENST00000460604,;	A	ENST00000372583	Transcript	missense_variant	1678/12193	792/7221	264/2406	E/D	gaG/gaT		1		-1	HIVEP3	HGNC	HGNC:13561	protein_coding	YES	CCDS463.1	ENSP00000361664	Q5T1R4		UPI000013CC24	NM_024503.4	tolerated(0.19)		4/9		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	41584006	41584006	C	A	1	0	0	0	0	1	0	0	0	7077	912	32	2		2	HIVEP3	1	41584006	Missense_Mutation	SNP	C	C3N-02089_TP	2018874	41584006	207372416	33	28830											
LURAP1	0	.	GRCh38	chr1	46219974	46219974	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccccagcgagctggatgaAcagggcccacctggggctcc	7	4	14	16	1	0	1	0	1	0	0	1	3	1	2	5	4	3	2	5	4	1	0	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.474A>T	p.Glu158Asp	p.E158D	ENST00000371980	2/2	265	217	48	217	217	0	strelka-varscan-mutect	LURAP1,missense_variant,p.Glu158Asp,ENST00000371980,NM_001013615.2;POMGNT1,5_prime_UTR_variant,,ENST00000396420,;POMGNT1,5_prime_UTR_variant,,ENST00000371992,NM_001243766.1;	T	ENST00000371980	Transcript	missense_variant	567/1854	474/720	158/239	E/D	gaA/gaT		1		1	LURAP1	HGNC	HGNC:32327	protein_coding	YES	CCDS30703.1	ENSP00000361048	Q96LR2		UPI0000072C34	NM_001013615.2	tolerated(0.15)		2/2		Pfam_domain:PF14854,hmmpanther:PTHR33767																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	46219974	46219974	A	T	1	0	0	0	0	1	0	0	0	8993	40	2	4		4	LURAP1	1	46219974	Missense_Mutation	SNP	A	C3N-02089_TP	4635968	46219974	202736448	34	28831											
FOXD2	0	.	GRCh38	chr1	47439504	47439504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcttggccatgctgactGctccggccctggctcccgtt	3	11	12	15	2	1	1	0	1	1	0	3	1	3	1	4	4	2	4	4	4	0	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1369G>T	p.Ala457Ser	p.A457S	ENST00000334793	1/1	247	194	53	228	228	0	strelka-varscan-mutect	FOXD2,missense_variant,p.Ala457Ser,ENST00000334793,NM_004474.3;FOXD2-AS1,upstream_gene_variant,,ENST00000445551,;	T	ENST00000334793	Transcript	missense_variant	3488/4675	1369/1488	457/495	A/S	Gct/Tct		1		1	FOXD2	HGNC	HGNC:3803	protein_coding	YES	CCDS30708.1	ENSP00000335493	O60548		UPI000014153E	NM_004474.3	tolerated_low_confidence(0.19)		1/1		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF168																	MODERATE	1	SNV				1										PASS		rs1172082438	.												T	3	4	90	47439504	47439504	G	T	1	0	0	0	0	1	0	0	0	5857	1319	46	2		2	FOXD2	1	47439504	Missense_Mutation	SNP	G	C3N-02089_TP	1219530	47439504	201516918	35	28832											
OSBPL9	0	.	GRCh38	chr1	51765935	51765935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagatgaattttatgatGctgatgaattccatcaaagt	14	14	9	4	0	1	6	1	5	0	1	2	6	2	6	1	0	1	1	1	0	5	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.922G>T	p.Ala308Ser	p.A308S	ENST00000447887	12/24	150	108	42	171	171	0	strelka-varscan-mutect	OSBPL9,missense_variant,p.Ala285Ser,ENST00000371714,NM_148908.3;OSBPL9,missense_variant,p.Ala308Ser,ENST00000447887,NM_148909.3;OSBPL9,missense_variant,p.Ala298Ser,ENST00000428468,NM_024586.5;OSBPL9,missense_variant,p.Ala281Ser,ENST00000453295,NM_148906.2;OSBPL9,missense_variant,p.Ala120Ser,ENST00000462759,NM_148904.3;OSBPL9,missense_variant,p.Ala188Ser,ENST00000361556,NM_148907.2;OSBPL9,missense_variant,p.Ala120Ser,ENST00000486942,NM_148905.3;OSBPL9,missense_variant,p.Ala133Ser,ENST00000531828,;OSBPL9,downstream_gene_variant,,ENST00000532975,;OSBPL9,downstream_gene_variant,,ENST00000527631,;OSBPL9,missense_variant,p.Ala99Ser,ENST00000531061,;OSBPL9,3_prime_UTR_variant,,ENST00000495776,;OSBPL9,3_prime_UTR_variant,,ENST00000435274,;OSBPL9,3_prime_UTR_variant,,ENST00000489990,;OSBPL9,3_prime_UTR_variant,,ENST00000528603,;OSBPL9,non_coding_transcript_exon_variant,,ENST00000531819,;OSBPL9,non_coding_transcript_exon_variant,,ENST00000475697,;OSBPL9,downstream_gene_variant,,ENST00000526917,;	T	ENST00000447887	Transcript	missense_variant	941/2940	922/2241	308/746	A/S	Gct/Tct		1		1	OSBPL9	HGNC	HGNC:16386	protein_coding	YES	CCDS44145.1	ENSP00000412733	Q96SU4		UPI0000167BAD	NM_148909.3	deleterious(0.02)		12/24		Low_complexity_(Seg):seg,hmmpanther:PTHR10972:SF27,hmmpanther:PTHR10972																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	90	51765935	51765935	G	T	1	0	0	0	0	1	0	0	0	11350	1319	46	2		2	OSBPL9	1	51765935	Missense_Mutation	SNP	G	C3N-02089_TP	4326431	51765935	197190487	36	28833											
PRKAA2	0	.	GRCh38	chr1	56707478	56707478	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttggtccatttcagatgAagtagtggagcagagatctg	10	13	12	6	0	3	3	1	1	2	2	4	5	4	4	1	2	1	2	1	2	2	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1424A>C	p.Glu475Ala	p.E475A	ENST00000371244	9/9	122	104	18	142	142	0	strelka-varscan-mutect	PRKAA2,missense_variant,p.Glu475Ala,ENST00000371244,NM_006252.3;PRKAA2,missense_variant,p.Glu475Ala,ENST00000610361,;	C	ENST00000371244	Transcript	missense_variant	1490/9347	1424/1659	475/552	E/A	gAa/gCa		1		1	PRKAA2	HGNC	HGNC:9377	protein_coding	YES	CCDS605.1	ENSP00000360290	P54646		UPI00001250A9	NM_006252.3	tolerated(0.16)		9/9		Pfam_domain:PF16579,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF193,Superfamily_domains:SSF103243																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	56707478	56707478	A	C	1	0	0	0	0	1	0	0	0	12627	260	9	5		5	PRKAA2	1	56707478	Missense_Mutation	SNP	A	C3N-02089_TP	4941543	56707478	192248944	37	28834											
MYSM1	0	.	GRCh38	chr1	58690401	58690401	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactttttccggttgtgattTtttagataaataatatctgt	10	20	7	4	1	1	2	0	1	1	1	2	3	2	2	1	1	0	1	1	1	5	9	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.235A>C	p.Lys79Gln	p.K79Q	ENST00000472487	4/20	111	95	16	136	136	0	strelka-varscan-mutect	MYSM1,missense_variant,p.Lys79Gln,ENST00000472487,NM_001085487.2;MYSM1,non_coding_transcript_exon_variant,,ENST00000466774,;MYSM1,non_coding_transcript_exon_variant,,ENST00000483003,;MYSM1,upstream_gene_variant,,ENST00000493821,;MYSM1,upstream_gene_variant,,ENST00000401044,;MYSM1,downstream_gene_variant,,ENST00000489282,;	G	ENST00000472487	Transcript	missense_variant	275/7785	235/2487	79/828	K/Q	Aaa/Caa		1		-1	MYSM1	HGNC	HGNC:29401	protein_coding	YES	CCDS41343.1	ENSP00000418734	Q5VVJ2		UPI0000204444	NM_001085487.2	deleterious(0.02)		4/20		hmmpanther:PTHR12802:SF20,hmmpanther:PTHR12802																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	90	58690401	58690401	T	G	1	0	0	0	0	1	0	0	0	10104	1850	64	5		5	MYSM1	1	58690401	Missense_Mutation	SNP	T	C3N-02089_TP	1982923	58690401	190266021	38	28835											
ANKRD13C	0	.	GRCh38	chr1	70324860	70324860	+	Frame_Shift_Del	DEL	C	C	-																															tcatattgcttactcatctgCctatctccatagctgatggc																								novel		C3N-02089_TP	C3N-02089_NB	C	C																c.570delG	p.Arg190SerfsTer3	p.R190Sfs*3	ENST00000370944	3/13	104	81	23	163	163	0	sindel-varindel-pindel	ANKRD13C,frameshift_variant,p.Arg190SerfsTer3,ENST00000370944,NM_030816.4;ANKRD13C,intron_variant,,ENST00000262346,;ANKRD13C,non_coding_transcript_exon_variant,,ENST00000498735,;	-	ENST00000370944	Transcript	frameshift_variant	884/4069	570/1626	190/541	R/X	agG/ag		1		-1	ANKRD13C	HGNC	HGNC:25374	protein_coding	YES	CCDS648.2	ENSP00000359982	Q8N6S4		UPI0000140CE0	NM_030816.4			3/13		PROSITE_profiles:PS50297,hmmpanther:PTHR12447,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	90	70324860	70324860	C	-	1	0	1	0	1	0	0	0	0	744	738	26	0		0	ANKRD13C	1	70324860	Frame_Shift_Del	DEL	C	C3N-02089_TP	11634459	70324860	178631562	39	28836											
LHX8	0	.	GRCh38	chr1	75143869	75143869	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggattagtgtggaaggtgCcctcctcacagagcaagatg	10	9	14	8	0	1	2	1	0	0	2	2	4	2	4	2	3	2	1	2	3	3	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.635C>A	p.Ala212Asp	p.A212D	ENST00000294638	7/10	291	226	65	311	309	2	strelka-varscan-mutect	LHX8,missense_variant,p.Ala212Asp,ENST00000294638,NM_001001933.1;LHX8,missense_variant,p.Ala202Asp,ENST00000356261,NM_001256114.1;	A	ENST00000294638	Transcript	missense_variant	1299/2373	635/1071	212/356	A/D	gCc/gAc		1		1	LHX8	HGNC	HGNC:28838	protein_coding	YES	CCDS30756.1	ENSP00000294638	Q68G74		UPI00001972E8	NM_001001933.1	deleterious(0.05)		7/10		hmmpanther:PTHR24208																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	75143869	75143869	C	A	1	0	0	0	0	1	0	0	0	8685	739	26	2		2	LHX8	1	75143869	Missense_Mutation	SNP	C	C3N-02089_TP	4819009	75143869	173812553	40	28837											
MSH4	0	.	GRCh38	chr1	75807087	75807087	+	Frame_Shift_Del	DEL	A	A	-																															ggaatggcaagtattgatttAaaaaacccccaaattatact																								rs761636688		C3N-02089_TP	C3N-02089_NB	A	A																c.539delA	p.Asn180ThrfsTer18	p.N180Tfs*18	ENST00000263187	3/20	84	57	27	153	153	0	sindel-varindel-pindel	MSH4,frameshift_variant,p.Asn180ThrfsTer18,ENST00000263187,NM_002440.3;	-	ENST00000263187	Transcript	frameshift_variant	638/3266	534/2811	178/936	L/X	ttA/tt	rs761636688	1		1	MSH4	HGNC	HGNC:7327	protein_coding	YES	CCDS670.1	ENSP00000263187	O15457		UPI000006D934	NM_002440.3			3/20		Gene3D:3.30.420.110,Pfam_domain:PF05188,hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF21																	HIGH	1	deletion	1	5		1										PASS		.	.												-	7	5	90	75807087	75807087	A	-	1	0	1	0	1	0	0	0	0	9855	359	13	0		0	MSH4	1	75807087	Frame_Shift_Del	DEL	A	C3N-02089_TP	663218	75807087	173149335	41	28838											
COL24A1	0	.	GRCh38	chr1	86125017	86125017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcaaggtgattatccacaGatggctcatttgtcactcta	11	13	8	9	0	4	2	3	1	1	1	5	3	5	2	1	2	0	1	1	2	3	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1319C>T	p.Ser440Phe	p.S440F	ENST00000370571	3/60	84	55	29	97	97	0	strelka-varscan-mutect	COL24A1,missense_variant,p.Ser440Phe,ENST00000370571,NM_152890.5;COL24A1,downstream_gene_variant,,ENST00000496682,;COL24A1,missense_variant,p.Ser440Phe,ENST00000426639,;	A	ENST00000370571	Transcript	missense_variant	1686/6825	1319/5145	440/1714	S/F	tCt/tTt		1		-1	COL24A1	HGNC	HGNC:20821	protein_coding	YES	CCDS41353.1	ENSP00000359603	Q17RW2		UPI000013E81F	NM_152890.5	tolerated(0.08)		3/60																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	86125017	86125017	G	A	1	0	0	0	0	1	0	0	0	3471	942	33	3		3	COL24A1	1	86125017	Missense_Mutation	SNP	G	C3N-02089_TP	10317930	86125017	162831405	42	28839											
HFM1	0	.	GRCh38	chr1	91314033	91314033	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagcaatctttttagcccaActtccagcttttagcaaaac	13	12	4	12	0	1	0	0	0	1	0	2	0	2	0	2	0	6	3	2	0	6	6	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.3168T>A	p.Ser1056Arg	p.S1056R	ENST00000370425	29/39	111	83	28	159	158	1	strelka-varscan-mutect	HFM1,missense_variant,p.Ser1056Arg,ENST00000370425,NM_001017975.4;HFM1,missense_variant,p.Ser268Arg,ENST00000430465,;HFM1,non_coding_transcript_exon_variant,,ENST00000462405,;HFM1,downstream_gene_variant,,ENST00000497520,;	T	ENST00000370425	Transcript	missense_variant	3267/4931	3168/4308	1056/1435	S/R	agT/agA		1		-1	HFM1	HGNC	HGNC:20193	protein_coding	YES	CCDS30769.2	ENSP00000359454	A2PYH4		UPI0000F51F79	NM_001017975.4	deleterious(0.02)		29/39		Pfam_domain:PF02889,SMART_domains:SM00973																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	91314033	91314033	A	T	1	0	0	0	0	1	0	0	0	6967	40	2	4		4	HFM1	1	91314033	Missense_Mutation	SNP	A	C3N-02089_TP	5189016	91314033	157642389	43	28840											
FNDC7	0	.	GRCh38	chr1	108718883	108718883	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcaattgcattctccgtGtccattatgcgagccaatgg	9	12	10	10	2	1	0	0	0	1	0	3	1	2	0	3	2	3	2	3	2	3	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.432G>T	p.=	p.V144V	ENST00000370017	4/13	325	285	40	397	397	0	strelka-varscan-mutect	FNDC7,synonymous_variant,p.=,ENST00000370017,NM_001144937.1;FNDC7,upstream_gene_variant,,ENST00000445274,;	T	ENST00000370017	Transcript	synonymous_variant	709/3332	432/2202	144/733	V	gtG/gtT		1		1	FNDC7	HGNC	HGNC:26668	protein_coding	YES	CCDS44185.1	ENSP00000359034	Q5VTL7		UPI000187497A	NM_001144937.1			4/13		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF204,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	90	108718883	108718883	G	T	1	0	0	0	0	0	0	0	1	5830	1364	48	2		2	FNDC7	1	108718883	Silent	SNP	G	C3N-02089_TP	17404850	108718883	140237539	44	28841											
AKNAD1	0	.	GRCh38	chr1	108820622	108820622	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatccgtttgggttttaaAaaagctgaaaaatgttagct	14	13	9	5	1	0	2	0	1	0	1	1	2	1	2	1	1	2	5	1	1	6	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.2172T>A	p.Phe724Leu	p.F724L	ENST00000370001	14/16	79	67	12	79	79	0	strelka-varscan-mutect	AKNAD1,missense_variant,p.Phe724Leu,ENST00000370001,NM_152763.4;AKNAD1,downstream_gene_variant,,ENST00000369995,;AKNAD1,downstream_gene_variant,,ENST00000369994,;AKNAD1,upstream_gene_variant,,ENST00000477908,;AKNAD1,intron_variant,,ENST00000474186,;AKNAD1,downstream_gene_variant,,ENST00000461774,;AKNAD1,upstream_gene_variant,,ENST00000466413,;AKNAD1,downstream_gene_variant,,ENST00000603450,;	T	ENST00000370001	Transcript	missense_variant	2441/3053	2172/2511	724/836	F/L	ttT/ttA		1		-1	AKNAD1	HGNC	HGNC:28398	protein_coding	YES	CCDS791.2	ENSP00000359018	Q5T1N1		UPI00004700A0	NM_152763.4	tolerated(0.59)		14/16		hmmpanther:PTHR21510,hmmpanther:PTHR21510:SF16																	MODERATE	1	SNV	1			1										PASS		rs1432028574	.												T	3	4	90	108820622	108820622	A	T	1	0	0	0	0	1	0	0	0	548	28	1	4		4	AKNAD1	1	108820622	Missense_Mutation	SNP	A	C3N-02089_TP	101739	108820622	140135800	45	28842											
SYT6	0	.	GRCh38	chr1	114138055	114138055	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttgaaggacgtgtgccTggtagagggcaggagggggc	7	6	21	7	2	0	2	0	1	0	1	0	4	0	4	1	6	1	3	1	6	2	2	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.258-2A>T		p.X86_splice	ENST00000609117		77	53	24	79	79	0	strelka-varscan-mutect	SYT6,splice_acceptor_variant,,ENST00000609117,;SYT6,splice_acceptor_variant,,ENST00000369547,NM_001270805.1;SYT6,splice_acceptor_variant,,ENST00000607941,NM_205848.3;SYT6,splice_acceptor_variant,,ENST00000610222,;SYT6,splice_acceptor_variant,,ENST00000608203,;SYT6,splice_acceptor_variant,,ENST00000609577,;SYT6,downstream_gene_variant,,ENST00000608879,;SYT6,splice_acceptor_variant,,ENST00000610121,;SYT6,splice_acceptor_variant,,ENST00000610096,;	A	ENST00000609117	Transcript	splice_acceptor_variant	-/4424	258/1278	86/425				1		-1	SYT6	HGNC	HGNC:18638	protein_coding	YES	CCDS871.1	ENSP00000477344	Q5T7P8	I6L9C3	UPI000000DACA					2/7																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	90	114138055	114138055	T	A	1	0	0	0	0	0	0	1	0	15872	1594	55	4		4	SYT6	1	114138055	Splice_Site	SNP	T	C3N-02089_TP	5317433	114138055	134818367	46	28843											
CD2	0	.	GRCh38	chr1	116754824	116754824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaaaagatacatataaGctatttaaaaatggaactct	21	10	6	4	0	1	1	0	0	1	1	1	3	1	3	0	2	3	1	0	2	11	6	rs763125349		C3N-02089_TP	C3N-02089_NB	G	G																c.255G>T	p.Lys85Asn	p.K85N	ENST00000369478	2/5	198	136	62	244	244	0	strelka-varscan-mutect	CD2,missense_variant,p.Lys85Asn,ENST00000369478,NM_001767.3;CD2,missense_variant,p.Lys85Asn,ENST00000369477,;	T	ENST00000369478	Transcript	missense_variant	363/1609	255/1056	85/351	K/N	aaG/aaT	rs763125349	1		1	CD2	HGNC	HGNC:1639	protein_coding	YES	CCDS889.1	ENSP00000358490	P06729	Q53F96	UPI0000062209	NM_001767.3	tolerated(0.27)		2/5		hmmpanther:PTHR12080:SF54,hmmpanther:PTHR12080,Gene3D:2.60.40.10,Pfam_domain:PF07686,Superfamily_domains:SSF48726,Prints_domain:PR01870																	MODERATE	1	SNV	1			1										PASS		rs763125349	.												T	3	4	90	116754824	116754824	G	T	1	0	0	0	0	1	0	0	0	2682	962	34	2		2	CD2	1	116754824	Missense_Mutation	SNP	G	C3N-02089_TP	2616769	116754824	132201598	47	28844											
GJA5	0	.	GRCh38	chr1	147758761	147758761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccacctccatggtggtgcGgatcaggatgctgcacacat	8	8	12	13	1	1	0	1	0	0	0	2	2	2	2	3	4	3	2	3	4	0	0	rs368383054		C3N-02089_TP	C3N-02089_NB	G	G																c.478C>A	p.Arg160Ser	p.R160S	ENST00000621517	2/2	520	421	99	303	303	0	strelka-varscan-mutect	GJA5,missense_variant,p.Arg160Ser,ENST00000621517,NM_005266.6;GJA5,missense_variant,p.Arg160Ser,ENST00000579774,NM_181703.3;GJA5,missense_variant,p.Arg160Ser,ENST00000430508,;RP11-433J22.2,downstream_gene_variant,,ENST00000622634,;RP11-433J22.2,downstream_gene_variant,,ENST00000612401,;	T	ENST00000621517	Transcript	missense_variant	622/3183	478/1077	160/358	R/S	Cgc/Agc	rs368383054	1		-1	GJA5	HGNC	HGNC:4279	protein_coding	YES	CCDS929.1	ENSP00000484552	P36382	X5D2H9	UPI000013D8D2	NM_005266.6	deleterious(0)		2/2		Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206,Prints_domain:PR01135,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF13																	MODERATE	1	SNV	2			1										PASS		rs368383054	.												T	3	4	90	147758761	147758761	G	T	1	0	0	0	0	1	0	0	0	6283	1116	39	1		1	GJA5	1	147758761	Missense_Mutation	SNP	G	C3N-02089_TP	31003937	147758761	101197661	48	28845											
NBPF11	0	.	GRCh38	chr1	148114441	148114441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattccacaacattacctggGagacactggccctttttctt	10	13	6	12	0	1	1	0	0	1	1	2	2	2	1	3	2	2	0	3	2	3	5	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1633C>T	p.Pro545Ser	p.P545S	ENST00000615281	15/24	61	45	16	64	64	0	varscan-mutect	NBPF11,missense_variant,p.Pro545Ser,ENST00000615281,NM_183372.5;NBPF11,missense_variant,p.Pro545Ser,ENST00000614015,NM_001101663.4;NBPF11,missense_variant,p.Pro510Ser,ENST00000614785,;NBPF11,missense_variant,p.Pro470Ser,ENST00000613531,;NBPF11,missense_variant,p.Pro470Ser,ENST00000614506,;	A	ENST00000615281	Transcript	missense_variant	2784/5494	1633/2598	545/865	P/S	Ccc/Tcc		1		-1	NBPF11	HGNC	HGNC:31993	protein_coding	YES	CCDS41381.2	ENSP00000477509	Q86T75		UPI0000198783	NM_183372.5	tolerated(0.12)		15/24		Pfam_domain:PF06758,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF20,SMART_domains:SM01148																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	148114441	148114441	G	A	1	0	0	0	0	1	0	0	0	10205	1188	41	3		3	NBPF11	1	148114441	Missense_Mutation	SNP	G	C3N-02089_TP	355680	148114441	100841981	49	28846											
RPRD2	0	.	GRCh38	chr1	150472935	150472935	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatttcccaaggaccatagTtccctccttcaagggaccct	9	11	7	14	0	1	0	1	0	0	0	4	2	4	2	5	2	0	2	5	2	4	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.3987T>A	p.Ser1329Arg	p.S1329R	ENST00000369068	11/11	168	158	10	126	126	0	strelka-varscan-mutect	RPRD2,missense_variant,p.Ser1303Arg,ENST00000401000,NM_001297674.1,NM_001297673.1;RPRD2,missense_variant,p.Ser1329Arg,ENST00000369068,NM_015203.4;RPRD2,non_coding_transcript_exon_variant,,ENST00000492220,;	A	ENST00000369068	Transcript	missense_variant	3991/4612	3987/4386	1329/1461	S/R	agT/agA		1		1	RPRD2	HGNC	HGNC:29039	protein_coding	YES	CCDS44216.1	ENSP00000358064	Q5VT52		UPI00001D7CA8	NM_015203.4	deleterious_low_confidence(0.01)		11/11		hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF0																	MODERATE	1	SNV	1			1										PASS		rs1460433223	.												A	3	1	90	150472935	150472935	T	A	1	0	0	0	0	1	0	0	0	13871	1722	60	4		4	RPRD2	1	150472935	Missense_Mutation	SNP	T	C3N-02089_TP	2358494	150472935	98483487	50	28847											
HRNR	0	.	GRCh38	chr1	152220283	152220283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatgggccactgctggaaGatcgaccaaagccagtccca	12	6	10	13	1	0	1	0	0	0	1	2	3	1	2	4	2	2	1	4	2	3	1	rs760948919		C3N-02089_TP	C3N-02089_NB	G	G																c.1346C>A	p.Ser449Tyr	p.S449Y	ENST00000368801	3/3	376	305	71	328	328	0	strelka-varscan-mutect	HRNR,missense_variant,p.Ser449Tyr,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	T	ENST00000368801	Transcript	missense_variant	1422/9623	1346/8553	449/2850	S/Y	tCt/tAt	rs760948919	1		-1	HRNR	HGNC	HGNC:20846	protein_coding	YES	CCDS30859.1	ENSP00000357791	Q86YZ3		UPI00001D7CAD	NM_001009931.2	deleterious(0)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25																	MODERATE	1	SNV	1			1										PASS		rs760948919	.												T	3	4	90	152220283	152220283	G	T	1	0	0	0	0	1	0	0	0	7254	942	33	2		2	HRNR	1	152220283	Missense_Mutation	SNP	G	C3N-02089_TP	1747348	152220283	96736139	51	28848											
CRNN	0	.	GRCh38	chr1	152410509	152410509	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctccagctttctgggtCtgctctgtctgcccagagag	4	13	10	14	0	5	1	0	0	5	1	6	2	5	1	3	1	3	2	3	1	0	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.573G>T	p.Gln191His	p.Q191H	ENST00000271835	3/3	364	292	72	310	310	0	strelka-varscan-mutect	CRNN,missense_variant,p.Gln191His,ENST00000271835,NM_016190.2;FLG-AS1,intron_variant,,ENST00000411804,;FLG-AS1,downstream_gene_variant,,ENST00000628475,;	A	ENST00000271835	Transcript	missense_variant	636/1902	573/1488	191/495	Q/H	caG/caT		1		-1	CRNN	HGNC	HGNC:1230	protein_coding	YES	CCDS1010.1	ENSP00000271835	Q9UBG3		UPI000006E106	NM_016190.2	deleterious(0.02)		3/3		hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF26																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	152410509	152410509	C	A	1	0	0	0	0	1	0	0	0	3693	912	32	2		2	CRNN	1	152410509	Missense_Mutation	SNP	C	C3N-02089_TP	190226	152410509	96545913	52	28849											
LCE5A	0	.	GRCh38	chr1	152511723	152511723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggctgctgcagctctgaGggtggtggctgctgcctgag	3	9	20	9	0	1	2	0	2	1	0	1	2	1	2	1	5	5	6	1	5	0	0			C3N-02089_TP	C3N-02089_NB	G	G																c.189G>C	p.Glu63Asp	p.E63D	ENST00000334269	2/2	379	304	75	353	353	0	strelka-varscan-mutect	LCE5A,missense_variant,p.Glu63Asp,ENST00000334269,NM_178438.4;CRCT1,upstream_gene_variant,,ENST00000368790,NM_019060.2;AL135842.1,downstream_gene_variant,,ENST00000624892,;	C	ENST00000334269	Transcript	missense_variant	365/819	189/357	63/118	E/D	gaG/gaC	COSM340142	1		1	LCE5A	HGNC	HGNC:16614	protein_coding	YES	CCDS1011.1	ENSP00000333952	Q5TCM9		UPI00001615D7	NM_178438.4	tolerated_low_confidence(0.78)		2/2		Pfam_domain:PF14672,hmmpanther:PTHR23263,Low_complexity_(Seg):seg											1						MODERATE		SNV	3		1	1										PASS		.	.												C	3	2	90	152511723	152511723	G	C	1	0	0	0	0	1	0	0	0	8580	991	35	4		4	LCE5A	1	152511723	Missense_Mutation	SNP	G	C3N-02089_TP	101214	152511723	96444699	53	28850											
KPRP	0	.	GRCh38	chr1	152761298	152761298	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaatgcctttgctggagtGaaaggggaagcaaagagtgc	12	7	16	6	0	0	2	0	1	0	1	0	4	0	4	1	4	4	3	1	4	4	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1710G>A	p.=	p.V570V	ENST00000606109	1/1	137	121	16	110	110	0	strelka-varscan-mutect	KPRP,synonymous_variant,p.=,ENST00000606109,NM_001025231.1;	A	ENST00000606109	Transcript	synonymous_variant	1738/2492	1710/1740	570/579	V	gtG/gtA		1		1	KPRP	HGNC	HGNC:31823	protein_coding	YES	CCDS30862.1	ENSP00000475216	Q5T749		UPI0000199942	NM_001025231.1			1/1																			LOW	1	SNV				1										PASS		.	.												A	2	1	90	152761298	152761298	G	A	1	0	0	0	0	0	0	0	1	8316	1277	45	3		3	KPRP	1	152761298	Silent	SNP	G	C3N-02089_TP	249575	152761298	96195124	54	28851											
LCE1A	0	.	GRCh38	chr1	152827479	152827479	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaccgccgagatgtccTgccagcagagccagcagcag	10	3	11	17	2	0	2	0	0	0	2	1	3	1	2	6	0	5	3	6	0	0	0	rs776567406		C3N-02089_TP	C3N-02089_NB	T	T																c.7T>A	p.Cys3Ser	p.C3S	ENST00000335123	1/1	173	141	32	185	185	0	strelka-varscan-mutect	LCE1A,missense_variant,p.Cys3Ser,ENST00000335123,NM_178348.2;	A	ENST00000335123	Transcript	missense_variant	7/422	7/333	3/110	C/S	Tgc/Agc	rs776567406	1		1	LCE1A	HGNC	HGNC:29459	protein_coding	YES	CCDS1028.1	ENSP00000334869	Q5T7P2		UPI0000192766	NM_178348.2	deleterious_low_confidence(0)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23263,Prints_domain:PR00021																	MODERATE	1	SNV				1										PASS		rs776567406	.												A	3	1	90	152827479	152827479	T	A	1	0	0	0	0	1	0	0	0	8564	1580	55	4		4	LCE1A	1	152827479	Missense_Mutation	SNP	T	C3N-02089_TP	66181	152827479	96128943	55	28852											
NUP210L	0	.	GRCh38	chr1	154094967	154094967	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccaggcattggatccggtAgatgtactggttctgttttc	7	15	11	8	1	1	1	0	0	1	1	4	2	3	2	2	4	1	5	2	4	2	6	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.2155T>A	p.Tyr719Asn	p.Y719N	ENST00000368559	15/40	361	323	38	256	256	0	strelka-varscan-mutect	NUP210L,missense_variant,p.Tyr719Asn,ENST00000368559,NM_207308.2;NUP210L,missense_variant,p.Tyr719Asn,ENST00000271854,NM_001159484.1;	T	ENST00000368559	Transcript	missense_variant	2227/5889	2155/5667	719/1888	Y/N	Tac/Aac		1		-1	NUP210L	HGNC	HGNC:29915	protein_coding	YES	CCDS41399.1	ENSP00000357547	Q5VU65		UPI000023724F	NM_207308.2	deleterious(0.02)		15/40		hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	154094967	154094967	A	T	1	0	0	0	0	1	0	0	0	10826	420	15	4		4	NUP210L	1	154094967	Missense_Mutation	SNP	A	C3N-02089_TP	1267488	154094967	94861455	56	28853											
ATP8B2	0	.	GRCh38	chr1	154348496	154348496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcatgcccgtggttgccttCcgattcctcaggctcaacct	6	12	8	15	2	3	0	3	0	0	0	5	1	5	0	5	2	3	2	5	2	1	3	rs755752350		C3N-02089_TP	C3N-02089_NB	C	C																c.3351C>A	p.Phe1117Leu	p.F1117L	ENST00000368489	27/28	155	141	14	99	99	0	strelka-varscan-mutect	ATP8B2,missense_variant,p.Phe1117Leu,ENST00000368489,NM_020452.3;ATP8B2,non_coding_transcript_exon_variant,,ENST00000505882,;	A	ENST00000368489	Transcript	missense_variant	3351/5861	3351/3672	1117/1223	F/L	ttC/ttA	rs755752350	1		1	ATP8B2	HGNC	HGNC:13534	protein_coding	YES	CCDS1066.1	ENSP00000357475	P98198		UPI00001B92AB	NM_020452.3	tolerated(0.39)		27/28		Superfamily_domains:0049473,Pfam_domain:PF16212,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF46,TIGRFAM_domain:TIGR01652,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs755752350	.												A	3	1	90	154348496	154348496	C	A	1	0	0	0	0	1	0	0	0	1348	854	30	2		2	ATP8B2	1	154348496	Missense_Mutation	SNP	C	C3N-02089_TP	253529	154348496	94607926	57	28854											
RUSC1	0	.	GRCh38	chr1	155325407	155325407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacgccctggtggcggacgGgctgaagcctttccggaagg	6	6	16	13	4	0	1	0	1	0	0	1	3	1	3	4	6	1	1	4	6	2	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1625G>C	p.Gly542Ala	p.G542A	ENST00000368352	5/10	179	169	10	79	79	0	strelka-varscan-mutect	RUSC1,missense_variant,p.Gly542Ala,ENST00000368352,NM_001105203.1;RUSC1,missense_variant,p.Gly542Ala,ENST00000368354,NM_001105204.1;RUSC1,missense_variant,p.Gly132Ala,ENST00000368347,NM_001105205.1;RUSC1,missense_variant,p.Gly73Ala,ENST00000292254,NM_001278230.1;RUSC1,missense_variant,p.Gly73Ala,ENST00000368349,NM_001278229.1,NM_014328.4,NM_001278227.1,NM_001278228.1;RUSC1,missense_variant,p.Gly73Ala,ENST00000497930,;RUSC1,missense_variant,p.Gly73Ala,ENST00000489860,;RUSC1,missense_variant,p.Gly73Ala,ENST00000479924,;RUSC1,5_prime_UTR_variant,,ENST00000471876,;RUSC1,5_prime_UTR_variant,,ENST00000490373,;FDPS,downstream_gene_variant,,ENST00000356657,NM_001135821.1;FDPS,downstream_gene_variant,,ENST00000368356,NM_002004.3;FDPS,downstream_gene_variant,,ENST00000447866,NM_001135822.1,NM_001242824.1;FDPS,downstream_gene_variant,,ENST00000612683,;FDPS,downstream_gene_variant,,ENST00000611010,NM_001242825.1;FDPS,downstream_gene_variant,,ENST00000467076,;RUSC1,upstream_gene_variant,,ENST00000485924,;RUSC1-AS1,upstream_gene_variant,,ENST00000446880,;RUSC1-AS1,upstream_gene_variant,,ENST00000450199,;RUSC1-AS1,upstream_gene_variant,,ENST00000543656,;RUSC1-AS1,upstream_gene_variant,,ENST00000443642,;FDPS,downstream_gene_variant,,ENST00000492244,;RUSC1,missense_variant,p.Gly73Ala,ENST00000468764,;RUSC1,non_coding_transcript_exon_variant,,ENST00000462780,;RUSC1,non_coding_transcript_exon_variant,,ENST00000492536,;RUSC1,non_coding_transcript_exon_variant,,ENST00000467820,;RUSC1,non_coding_transcript_exon_variant,,ENST00000473331,;FDPS,downstream_gene_variant,,ENST00000490140,;FDPS,downstream_gene_variant,,ENST00000489324,;	C	ENST00000368352	Transcript	missense_variant	1776/3403	1625/2709	542/902	G/A	gGg/gCg		1		1	RUSC1	HGNC	HGNC:17153	protein_coding	YES	CCDS41410.1	ENSP00000357336	Q9BVN2		UPI000046FDA5	NM_001105203.1	deleterious(0)		5/10		PROSITE_profiles:PS50826,hmmpanther:PTHR15591,Pfam_domain:PF02759,Superfamily_domains:0052343																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	90	155325407	155325407	G	C	1	0	0	0	0	1	0	0	0	14011	1232	43	4		4	RUSC1	1	155325407	Missense_Mutation	SNP	G	C3N-02089_TP	976911	155325407	93631015	58	28855											
IQGAP3	0	.	GRCh38	chr1	156528601	156528601	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggctgcttcttccccttCccagaactcctgattaaaag	10	11	7	13	0	1	2	0	1	1	1	4	3	4	2	4	1	2	2	4	1	4	4	rs754015306		C3N-02089_TP	C3N-02089_NB	C	C																c.4581G>T	p.=	p.G1527G	ENST00000361170	36/38	222	153	69	161	161	0	strelka-varscan-mutect	IQGAP3,synonymous_variant,p.=,ENST00000361170,NM_178229.4;IQGAP3,synonymous_variant,p.=,ENST00000491900,;	A	ENST00000361170	Transcript	synonymous_variant	4592/5988	4581/4896	1527/1631	G	ggG/ggT	rs754015306	1		-1	IQGAP3	HGNC	HGNC:20669	protein_coding	YES	CCDS1144.1	ENSP00000354451	Q86VI3		UPI000046FFDD	NM_178229.4			36/38		Low_complexity_(Seg):seg,hmmpanther:PTHR14149:SF10,hmmpanther:PTHR14149,Pfam_domain:PF03836																	LOW	1	SNV	1			1										PASS		rs754015306	.												A	2	1	90	156528601	156528601	C	A	1	0	0	0	0	0	0	0	1	7722	842	30	2		2	IQGAP3	1	156528601	Silent	SNP	C	C3N-02089_TP	1203194	156528601	92427821	59	28856											
BCAN	0	.	GRCh38	chr1	156652833	156652833	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacctcagtgcaggcccAgccagtgctgcccactgaca	9	5	12	15	0	1	1	1	1	0	0	1	2	1	2	4	2	4	2	4	2	0	0	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1883A>T	p.Gln628Leu	p.Q628L	ENST00000329117	8/14	218	184	34	137	136	1	strelka-varscan-mutect	BCAN,missense_variant,p.Gln628Leu,ENST00000329117,NM_021948.4;BCAN,missense_variant,p.Gln628Leu,ENST00000361588,NM_198427.1;BCAN,downstream_gene_variant,,ENST00000424639,;RP11-284F21.7,intron_variant,,ENST00000448869,;BCAN,upstream_gene_variant,,ENST00000496038,;BCAN,downstream_gene_variant,,ENST00000479949,;BCAN,downstream_gene_variant,,ENST00000491823,;	T	ENST00000329117	Transcript	missense_variant	2219/3466	1883/2736	628/911	Q/L	cAg/cTg		1		1	BCAN	HGNC	HGNC:23059	protein_coding	YES	CCDS1149.1	ENSP00000331210	Q96GW7		UPI000006F0E9	NM_021948.4	tolerated(0.4)		8/14		hmmpanther:PTHR22804																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	156652833	156652833	A	T	1	0	0	0	0	1	0	0	0	1492	188	7	4		4	BCAN	1	156652833	Missense_Mutation	SNP	A	C3N-02089_TP	124232	156652833	92303589	60	28857											
PEAR1	0	.	GRCh38	chr1	156908753	156908753	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcatgggccagggtgccAggagcactgtctctgcctgc	6	7	14	14	1	1	0	0	0	1	0	2	1	1	1	3	3	4	2	3	3	0	0	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1214A>T	p.Gln405Leu	p.Q405L	ENST00000338302	11/24	147	119	28	106	106	0	strelka-varscan-mutect	PEAR1,missense_variant,p.Gln405Leu,ENST00000338302,;PEAR1,missense_variant,p.Gln405Leu,ENST00000292357,NM_001080471.1;PEAR1,downstream_gene_variant,,ENST00000455314,;PEAR1,non_coding_transcript_exon_variant,,ENST00000469390,;PEAR1,upstream_gene_variant,,ENST00000465101,;PEAR1,downstream_gene_variant,,ENST00000444016,;PEAR1,upstream_gene_variant,,ENST00000482505,;	T	ENST00000338302	Transcript	missense_variant	1439/4970	1214/3114	405/1037	Q/L	cAg/cTg		1		1	PEAR1	HGNC	HGNC:33631	protein_coding	YES	CCDS30892.1	ENSP00000344465	Q5VY43		UPI000045889A		tolerated(0.58)		11/24		PROSITE_profiles:PS50026,hmmpanther:PTHR24052,hmmpanther:PTHR24052:SF12,Gene3D:2gy5A03,SMART_domains:SM00181																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	156908753	156908753	A	T	1	0	0	0	0	1	0	0	0	11801	188	7	4		4	PEAR1	1	156908753	Missense_Mutation	SNP	A	C3N-02089_TP	255920	156908753	92047669	61	28858											
ETV3L	0	.	GRCh38	chr1	157099271	157099271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgccaggcgatgacatGgcggaactcttccttctgca	7	10	11	13	2	2	1	0	1	2	0	3	3	3	2	2	3	4	2	2	3	1	2			C3N-02089_TP	C3N-02089_NB	G	G																c.166C>A	p.His56Asn	p.H56N	ENST00000454449	2/5	308	282	26	273	273	0	varscan-mutect	ETV3L,missense_variant,p.His56Asn,ENST00000454449,NM_001004341.2;	T	ENST00000454449	Transcript	missense_variant	451/1976	166/1086	56/361	H/N	Cat/Aat	COSM1646006,COSM676315	1		-1	ETV3L	HGNC	HGNC:33834	protein_coding	YES	CCDS30893.1	ENSP00000430271	Q6ZN32		UPI000035E7AE	NM_001004341.2	tolerated(0.22)		2/5		Gene3D:1.10.10.10,Pfam_domain:PF00178,PROSITE_profiles:PS50061,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF30,SMART_domains:SM00413,Superfamily_domains:SSF46785											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												T	3	4	90	157099271	157099271	G	T	1	0	0	0	0	1	0	0	0	5144	1348	47	2		2	ETV3L	1	157099271	Missense_Mutation	SNP	G	C3N-02089_TP	190518	157099271	91857151	62	28859											
CD1E	0	.	GRCh38	chr1	158354502	158354502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggatggctgggtgacCtgcagactcatggctgggac	7	8	16	10	0	2	2	2	1	0	1	2	4	2	4	1	5	1	4	1	5	0	0	rs772321585		C3N-02089_TP	C3N-02089_NB	C	C																c.184C>A	p.Leu62Met	p.L62M	ENST00000368167	2/6	232	161	71	199	198	1	strelka-varscan-mutect	CD1E,missense_variant,p.Leu62Met,ENST00000368160,NM_001042583.2;CD1E,missense_variant,p.Leu62Met,ENST00000368161,NM_001042584.2;CD1E,missense_variant,p.Leu62Met,ENST00000368163,NM_001042585.2;CD1E,missense_variant,p.Leu62Met,ENST00000368167,NM_030893.3;CD1E,missense_variant,p.Leu62Met,ENST00000368165,NM_001185107.1;CD1E,missense_variant,p.Leu62Met,ENST00000368156,NM_001185115.1;CD1E,missense_variant,p.Leu62Met,ENST00000368155,NM_001185108.1;CD1E,intron_variant,,ENST00000444681,NM_001185114.1;CD1E,intron_variant,,ENST00000368166,NM_001042586.2;CD1E,intron_variant,,ENST00000368164,NM_001042587.2;CD1E,intron_variant,,ENST00000452291,NM_001185112.1;CD1E,intron_variant,,ENST00000368154,NM_001185113.1;CD1E,intron_variant,,ENST00000368157,NM_001185110.1;CD1E,upstream_gene_variant,,ENST00000368162,;CD1E,intron_variant,,ENST00000464822,;	A	ENST00000368167	Transcript	missense_variant	423/1458	184/1167	62/388	L/M	Ctg/Atg	rs772321585	1		1	CD1E	HGNC	HGNC:1638	protein_coding	YES	CCDS41417.1	ENSP00000357149	P15812		UPI000046F8C2	NM_030893.3	tolerated(0.05)		2/6		hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF146,Gene3D:3.30.500.10,Pfam_domain:PF16497,Superfamily_domains:SSF54452																	MODERATE	1	SNV	1			1										PASS		rs772321585	.												A	3	1	90	158354502	158354502	C	A	1	0	0	0	0	1	0	0	0	2681	680	24	2		2	CD1E	1	158354502	Missense_Mutation	SNP	C	C3N-02089_TP	1255231	158354502	90601920	63	28860											
OR10T2	0	.	GRCh38	chr1	158398883	158398883	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaataaagccagctctttcAcatgggtgtcagtgcaggct	11	11	10	9	0	3	0	2	0	1	0	3	0	3	0	1	2	3	3	1	2	4	3	rs141841653		C3N-02089_TP	C3N-02089_NB	A	A																c.584T>A	p.Val195Glu	p.V195E	ENST00000334438	1/1	176	121	55	166	165	1	strelka-varscan-mutect	OR10T2,missense_variant,p.Val195Glu,ENST00000334438,NM_001004475.1;	T	ENST00000334438	Transcript	missense_variant	584/945	584/945	195/314	V/E	gTg/gAg	rs141841653	1		-1	OR10T2	HGNC	HGNC:14816	protein_coding	YES	CCDS30895.1	ENSP00000334115	Q8NGX3	A0A126GV74	UPI000003F220	NM_001004475.1	deleterious(0.03)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF98,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs141841653	.												T	3	4	90	158398883	158398883	A	T	1	0	0	0	0	1	0	0	0	10996	159	6	4		4	OR10T2	1	158398883	Missense_Mutation	SNP	A	C3N-02089_TP	44381	158398883	90557539	64	28861											
OR6P1	0	.	GRCh38	chr1	158563150	158563150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcatcatggagctgaagaagCcactgccccaagaggcagca	13	5	11	12	0	2	3	2	1	0	2	2	4	2	4	3	2	4	3	3	2	3	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.455G>T	p.Gly152Val	p.G152V	ENST00000334632	1/1	301	263	38	243	242	1	strelka-varscan-mutect	OR6P1,missense_variant,p.Gly152Val,ENST00000334632,NM_001160325.1;	A	ENST00000334632	Transcript	missense_variant	455/954	455/954	152/317	G/V	gGc/gTc		1		-1	OR6P1	HGNC	HGNC:15036	protein_coding	YES	CCDS53391.1	ENSP00000334721	Q8NGX9	A0A126GV72	UPI000004B1FF	NM_001160325.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	90	158563150	158563150	C	A	1	0	0	0	0	1	0	0	0	11277	739	26	2		2	OR6P1	1	158563150	Missense_Mutation	SNP	C	C3N-02089_TP	164267	158563150	90393272	65	28862											
SPTA1	0	.	GRCh38	chr1	158662855	158662855	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcttcaaatcggcataccaAggactcttgccttgccctta	10	11	7	13	1	2	0	1	0	1	0	3	1	2	1	3	2	4	2	3	2	4	5	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.2311T>A	p.Leu771Met	p.L771M	ENST00000368147	17/52	588	532	56	442	441	1	strelka-varscan-mutect	SPTA1,missense_variant,p.Leu771Met,ENST00000368147,NM_003126.2;	T	ENST00000368147	Transcript	missense_variant	2492/7999	2311/7260	771/2419	L/M	Ttg/Atg		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0.01)		17/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	158662855	158662855	A	T	1	0	0	0	0	1	0	0	0	15472	69	3	4		4	SPTA1	1	158662855	Missense_Mutation	SNP	A	C3N-02089_TP	99705	158662855	90293567	66	28863											
CADM3	0	.	GRCh38	chr1	159196443	159196443	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctacactgtgagggtcgCggcaatccagtgtaagaaga	11	9	13	8	2	0	3	0	1	0	2	2	3	1	3	1	2	2	3	1	2	4	3	rs373766355		C3N-02089_TP	C3N-02089_NB	C	C																c.873C>A	p.=	p.R291R	ENST00000368124	7/10	210	179	31	168	168	0	strelka-varscan-mutect	CADM3,synonymous_variant,p.=,ENST00000368125,NM_001127173.1;CADM3,synonymous_variant,p.=,ENST00000368124,NM_021189.3;CADM3,synonymous_variant,p.=,ENST00000416746,;CADM3-AS1,non_coding_transcript_exon_variant,,ENST00000415675,;CADM3-AS1,downstream_gene_variant,,ENST00000609696,;	A	ENST00000368124	Transcript	synonymous_variant	1030/2546	873/1299	291/432	R	cgC/cgA	rs373766355,COSM1335327	1		1	CADM3	HGNC	HGNC:17601	protein_coding	YES	CCDS1182.1	ENSP00000357106	Q8N126		UPI000006E8A2	NM_021189.3			7/10		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF57,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						LOW	1	SNV	1		0,1	1										PASS		rs373766355	.												A	2	1	90	159196443	159196443	C	A	1	0	0	0	0	0	0	0	1	2258	755	27	1		1	CADM3	1	159196443	Silent	SNP	C	C3N-02089_TP	533588	159196443	89759979	67	28864											
CRP	0	.	GRCh38	chr1	159713869	159713869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttgtacaaatgtgtactgGagctactgtgacttcaggaa	11	12	11	7	0	1	1	1	1	0	0	1	3	1	3	0	2	4	4	0	2	5	5			C3N-02089_TP	C3N-02089_NB	G	G																c.331C>A	p.Pro111Thr	p.P111T	ENST00000255030	2/2	476	430	46	322	322	0	strelka-varscan-mutect	CRP,missense_variant,p.Pro111Thr,ENST00000255030,NM_000567.2;CRP,5_prime_UTR_variant,,ENST00000437342,;CRP,intron_variant,,ENST00000368112,;CRP,intron_variant,,ENST00000368110,;CRP,intron_variant,,ENST00000368111,;CRP,intron_variant,,ENST00000489317,;CRP,upstream_gene_variant,,ENST00000473196,;	T	ENST00000255030	Transcript	missense_variant	435/2015	331/675	111/224	P/T	Cca/Aca	COSM349823	1		-1	CRP	HGNC	HGNC:2367	protein_coding	YES	CCDS30911.1	ENSP00000255030	P02741		UPI0000128478	NM_000567.2	deleterious(0.02)		2/2		hmmpanther:PTHR19277:SF119,hmmpanther:PTHR19277,Pfam_domain:PF00354,Gene3D:2.60.120.200,SMART_domains:SM00159,Superfamily_domains:SSF49899											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	90	159713869	159713869	G	T	1	0	0	0	0	1	0	0	0	3697	1174	41	2		2	CRP	1	159713869	Missense_Mutation	SNP	G	C3N-02089_TP	517426	159713869	89242553	68	28865											
SLAMF8	0	.	GRCh38	chr1	159832969	159832969	+	Frame_Shift_Del	DEL	C	C	-																															ggttttcttgtcctgttgggCccccaacatcagcgaaataa																								novel		C3N-02089_TP	C3N-02089_NB	C	C																c.465delC	p.Asn156ThrfsTer5	p.N156Tfs*5	ENST00000289707	3/5	457	327	130	261	261	0	sindel-varindel-pindel	SLAMF8,frameshift_variant,p.Asn156ThrfsTer5,ENST00000289707,NM_020125.2;SLAMF8,frameshift_variant,p.Asn47ThrfsTer5,ENST00000368104,;C1orf204,downstream_gene_variant,,ENST00000368102,NM_001134233.1;C1orf204,downstream_gene_variant,,ENST00000621242,;SLAMF8,non_coding_transcript_exon_variant,,ENST00000471286,;C1orf204,downstream_gene_variant,,ENST00000491974,;SLAMF8,upstream_gene_variant,,ENST00000497141,;	-	ENST00000289707	Transcript	frameshift_variant	610/2996	461/858	154/285	A/X	gCc/gc		1		1	SLAMF8	HGNC	HGNC:21391	protein_coding	YES	CCDS1188.1	ENSP00000289707	Q9P0V8		UPI000003E841	NM_020125.2			3/5		PROSITE_profiles:PS50835,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF55,Superfamily_domains:SSF48726																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	90	159832969	159832969	C	-	1	0	1	0	1	0	0	0	0	14635	739	26	0		0	SLAMF8	1	159832969	Frame_Shift_Del	DEL	C	C3N-02089_TP	119100	159832969	89123453	69	28866											
SLAMF9	0	.	GRCh38	chr1	159953532	159953532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaagacttttgtgagaGgaccagatgatgttctcaac	11	11	12	7	0	1	4	1	2	1	3	2	6	1	5	1	2	1	2	1	2	2	3			C3N-02089_TP	C3N-02089_NB	G	G																c.168C>T	p.=	p.S56S	ENST00000368093	2/4	250	202	48	155	155	0	strelka-mutect	SLAMF9,synonymous_variant,p.=,ENST00000368093,NM_033438.3;SLAMF9,synonymous_variant,p.=,ENST00000368092,NM_001146172.1;SLAMF9,non_coding_transcript_exon_variant,,ENST00000489098,;SLAMF9,upstream_gene_variant,,ENST00000466773,;	A	ENST00000368093	Transcript	synonymous_variant	285/1156	168/870	56/289	S	tcC/tcT	COSM4024036	1		-1	SLAMF9	HGNC	HGNC:18430	protein_coding	YES	CCDS1191.1	ENSP00000357072	Q96A28		UPI000013E1B2	NM_033438.3			2/4		Gene3D:2.60.40.10,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF18,Superfamily_domains:SSF48726											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	90	159953532	159953532	G	A	1	0	0	0	0	0	0	0	1	14636	987	35	3		3	SLAMF9	1	159953532	Silent	SNP	G	C3N-02089_TP	120563	159953532	89002890	70	28867											
NECTIN4	0	.	GRCh38	chr1	161072819	161072819	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcctggagacagcagttCagtctgtgtttctatctccc	8	12	10	11	0	4	2	1	0	3	2	5	3	4	2	2	1	2	3	2	1	1	3			C3N-02089_TP	C3N-02089_NB	C	C																c.1375G>T	p.Glu459Ter	p.E459*	ENST00000368012	9/9	671	452	219	409	409	0	strelka-varscan-mutect	NECTIN4,stop_gained,p.Glu459Ter,ENST00000368012,NM_030916.2;ARHGAP30,upstream_gene_variant,,ENST00000368013,NM_001287600.1,NM_001025598.1;ARHGAP30,upstream_gene_variant,,ENST00000368015,NM_001287602.1;ARHGAP30,upstream_gene_variant,,ENST00000368016,NM_181720.2;NECTIN4,non_coding_transcript_exon_variant,,ENST00000486694,;ARHGAP30,upstream_gene_variant,,ENST00000461003,;ARHGAP30,upstream_gene_variant,,ENST00000490279,;ARHGAP30,upstream_gene_variant,,ENST00000368018,;ARHGAP30,upstream_gene_variant,,ENST00000471492,;	A	ENST00000368012	Transcript	stop_gained	1678/3502	1375/1533	459/510	E/*	Gaa/Taa	COSM676682	1		-1	NECTIN4	HGNC	HGNC:19688	protein_coding	YES	CCDS1216.1	ENSP00000356991	Q96NY8	K4PZ75	UPI000006F072	NM_030916.2			9/9		hmmpanther:PTHR23277:SF11,hmmpanther:PTHR23277											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	90	161072819	161072819	C	A	1	0	0	0	0	0	1	0	0	10336	835	29	2		2	NECTIN4	1	161072819	Nonsense_Mutation	SNP	C	C3N-02089_TP	1119287	161072819	87883603	71	28868											
SELE	0	.	GRCh38	chr1	169728088	169728088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcttctcgttgtcccactCccctgtggggccacattgga	4	11	12	14	1	1	0	0	0	1	0	4	1	3	1	4	4	0	2	4	4	0	3			C3N-02089_TP	C3N-02089_NB	C	C																c.1249G>A	p.Glu417Lys	p.E417K	ENST00000333360	8/14	144	127	17	181	181	0	strelka-varscan-mutect	SELE,missense_variant,p.Glu417Lys,ENST00000333360,NM_000450.2;SELE,missense_variant,p.Glu417Lys,ENST00000367777,;SELE,intron_variant,,ENST00000367776,;SELE,intron_variant,,ENST00000367775,;SELE,intron_variant,,ENST00000367774,;C1orf112,intron_variant,,ENST00000498289,;SELE,downstream_gene_variant,,ENST00000461085,;	T	ENST00000333360	Transcript	missense_variant	1389/3857	1249/1833	417/610	E/K	Gag/Aag	COSM5598768	1		-1	SELE	HGNC	HGNC:10718	protein_coding	YES	CCDS1283.1	ENSP00000331736	P16581		UPI000012E44A	NM_000450.2	tolerated(0.42)		8/14		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF380,hmmpanther:PTHR19325,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	90	169728088	169728088	C	T	1	0	0	0	0	1	0	0	0	14290	864	30	3		3	SELE	1	169728088	Missense_Mutation	SNP	C	C3N-02089_TP	8655269	169728088	79228334	72	28869											
FMO4	0	.	GRCh38	chr1	171341444	171341444	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagacaccagcaaagacaaaTttgactacattgcctacatg	17	8	6	10	0	0	3	0	1	0	2	0	3	0	3	2	0	4	1	2	0	5	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1282T>G	p.Phe428Val	p.F428V	ENST00000367749	10/10	114	94	20	123	123	0	strelka-varscan-mutect	FMO4,missense_variant,p.Phe428Val,ENST00000367749,NM_002022.2;FMO4,non_coding_transcript_exon_variant,,ENST00000480136,;FMO4,downstream_gene_variant,,ENST00000475780,;RP4-798A17.5,upstream_gene_variant,,ENST00000450334,;TOP1P1,downstream_gene_variant,,ENST00000599419,;	G	ENST00000367749	Transcript	missense_variant	1612/2252	1282/1677	428/558	F/V	Ttt/Gtt		1		1	FMO4	HGNC	HGNC:3772	protein_coding	YES	CCDS1295.1	ENSP00000356723	P31512		UPI000013C52B	NM_002022.2	tolerated(1)		10/10		Gene3D:3.50.50.60,Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,Prints_domain:PR01124,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF74,Superfamily_domains:SSF51905																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	171341444	171341444	T	G	1	0	0	0	0	1	0	0	0	5813	1493	52	5		5	FMO4	1	171341444	Missense_Mutation	SNP	T	C3N-02089_TP	1613356	171341444	77614978	73	28870											
FASLG	0	.	GRCh38	chr1	172665651	172665651	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcaaggtccatgcctctgGaatgggaagacacctatgga	12	8	11	10	0	2	1	1	0	1	1	3	4	3	4	3	4	1	0	3	4	4	1			C3N-02089_TP	C3N-02089_NB	G	G																c.481G>T	p.Glu161Ter	p.E161*	ENST00000367721	4/4	180	139	41	159	159	0	strelka-varscan-mutect	FASLG,stop_gained,p.Glu161Ter,ENST00000367721,NM_000639.2;FASLG,3_prime_UTR_variant,,ENST00000340030,NM_001302746.1;	T	ENST00000367721	Transcript	stop_gained	665/1888	481/846	161/281	E/*	Gaa/Taa	COSM677112	1		1	FASLG	HGNC	HGNC:11936	protein_coding	YES	CCDS1304.1	ENSP00000356694	P48023	Q53ZZ1	UPI000000D91A	NM_000639.2			4/4		Gene3D:2.60.120.40,Pfam_domain:PF00229,Prints_domain:PR01681,PROSITE_profiles:PS50049,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF33,SMART_domains:SM00207,Superfamily_domains:SSF49842											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	90	172665651	172665651	G	T	1	0	0	0	0	0	1	0	0	5542	1175	41	2		2	FASLG	1	172665651	Nonsense_Mutation	SNP	G	C3N-02089_TP	1324207	172665651	76290771	74	28871											
TNR	0	.	GRCh38	chr1	175386156	175386156	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggctcaggggaggctgcagCcggaaggtggtcctcccacc	6	6	16	13	1	1	0	1	0	0	0	3	2	3	2	4	7	2	3	4	7	1	0	rs752380382		C3N-02089_TP	C3N-02089_NB	C	C																c.1653G>T	p.=	p.R551R	ENST00000367674	8/23	123	79	44	101	101	0	strelka-varscan-mutect	TNR,synonymous_variant,p.=,ENST00000367674,;TNR,synonymous_variant,p.=,ENST00000263525,NM_003285.2;	A	ENST00000367674	Transcript	synonymous_variant	2362/12949	1653/4077	551/1358	R	cgG/cgT	rs752380382	1		-1	TNR	HGNC	HGNC:11953	protein_coding	YES	CCDS1318.1	ENSP00000356646	Q92752		UPI000013D41C				8/23		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	5			1										PASS		rs752380382	.												A	2	1	90	175386156	175386156	C	A	1	0	0	0	0	0	0	0	1	16811	726	26	2		2	TNR	1	175386156	Silent	SNP	C	C3N-02089_TP	2720505	175386156	73570266	75	28872											
HMCN1	0	.	GRCh38	chr1	186019694	186019694	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactgcccaaggaaaccttaAagtaagtgtaaatattactc	16	10	6	9	0	0	0	0	0	0	0	1	1	0	1	2	1	3	2	2	1	9	5	rs751987871		C3N-02089_TP	C3N-02089_NB	A	A																c.5624A>C	p.Lys1875Thr	p.K1875T	ENST00000271588	35/107	142	121	21	139	139	0	strelka-varscan-mutect	HMCN1,missense_variant,p.Lys1875Thr,ENST00000271588,NM_031935.2;	C	ENST00000271588	Transcript	missense_variant,splice_region_variant	5853/18208	5624/16908	1875/5635	K/T	aAa/aCa	rs751987871	1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2	tolerated(0.08)		35/107		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs751987871	.												C	3	2	90	186019694	186019694	A	C	1	0	0	0	0	1	0	0	0	7111	28	1	5		5	HMCN1	1	186019694	Missense_Mutation	SNP	A	C3N-02089_TP	10633538	186019694	62936728	76	28873											
HMCN1	0	.	GRCh38	chr1	186065390	186065390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtttggcttccagtccaGctggccacaagagcaggagc	9	8	12	12	0	0	1	0	0	0	1	2	2	2	2	3	3	3	4	3	3	1	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.7666G>T	p.Ala2556Ser	p.A2556S	ENST00000271588	49/107	126	105	21	125	125	0	strelka-varscan-mutect	HMCN1,missense_variant,p.Ala2556Ser,ENST00000271588,NM_031935.2;	T	ENST00000271588	Transcript	missense_variant	7895/18208	7666/16908	2556/5635	A/S	Gct/Tct		1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2	deleterious(0)		49/107		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	186065390	186065390	G	T	1	0	0	0	0	1	0	0	0	7111	971	34	2		2	HMCN1	1	186065390	Missense_Mutation	SNP	G	C3N-02089_TP	45696	186065390	62891032	77	28874											
HMCN1	0	.	GRCh38	chr1	186172038	186172038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagacaaaatgtatgcagaCcagatcagcactgtaagaac	17	7	9	8	0	1	4	1	0	0	4	1	4	1	4	1	0	3	5	1	0	6	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.15721C>A	p.Pro5241Thr	p.P5241T	ENST00000271588	102/107	187	150	37	209	209	0	strelka-varscan-mutect	HMCN1,missense_variant,p.Pro5241Thr,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Pro33Thr,ENST00000414277,;GS1-174L6.4,downstream_gene_variant,,ENST00000428391,;HMCN1,non_coding_transcript_exon_variant,,ENST00000475585,;	A	ENST00000271588	Transcript	missense_variant	15950/18208	15721/16908	5241/5635	P/T	Cca/Aca		1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2	tolerated(0.23)		102/107		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF678,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	186172038	186172038	C	A	1	0	0	0	0	1	0	0	0	7111	507	18	2		2	HMCN1	1	186172038	Missense_Mutation	SNP	C	C3N-02089_TP	106648	186172038	62784384	78	28875											
TPR	0	.	GRCh38	chr1	186344424	186344424	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctttacactccaacaacTgtgattctgctttctgtgtt	8	17	6	10	0	2	1	0	1	2	0	3	1	3	1	1	0	5	3	1	0	3	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.3368A>T	p.Gln1123Leu	p.Q1123L	ENST00000367478	25/51	158	141	17	141	140	1	strelka-varscan-mutect	TPR,missense_variant,p.Gln1123Leu,ENST00000367478,NM_003292.2;TPR,upstream_gene_variant,,ENST00000481347,;	A	ENST00000367478	Transcript	missense_variant	3665/9708	3368/7092	1123/2363	Q/L	cAg/cTg		1		-1	TPR	HGNC	HGNC:12017	protein_coding	YES	CCDS41446.1	ENSP00000356448	P12270		UPI000046FCF4	NM_003292.2	tolerated(0.4)		25/51		Pfam_domain:PF07926,hmmpanther:PTHR18898																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	186344424	186344424	T	A	1	0	0	0	0	1	0	0	0	16897	1580	55	4		4	TPR	1	186344424	Missense_Mutation	SNP	T	C3N-02089_TP	172386	186344424	62611998	79	28876											
CFH	0	.	GRCh38	chr1	196673114	196673114	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggaaatgtaataatggtAtgcaggaagggagaatgggt	14	10	15	2	0	0	1	0	0	0	1	0	4	0	3	0	5	1	3	0	5	6	4	rs771886580		C3N-02089_TP	C3N-02089_NB	A	A																c.195A>T	p.=	p.V65V	ENST00000367429	2/22	310	208	102	354	354	0	strelka-varscan-mutect	CFH,synonymous_variant,p.=,ENST00000367429,NM_000186.3;CFH,synonymous_variant,p.=,ENST00000630130,NM_001014975.2;CFH,synonymous_variant,p.=,ENST00000359637,;CFH,non_coding_transcript_exon_variant,,ENST00000496761,;CFH,upstream_gene_variant,,ENST00000466229,;	T	ENST00000367429	Transcript	synonymous_variant	435/4127	195/3696	65/1231	V	gtA/gtT	rs771886580	1		1	CFH	HGNC	HGNC:4883	protein_coding	YES	CCDS1385.1	ENSP00000356399	P08603	A0A024R962	UPI000013C4D1	NM_000186.3			2/22		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF373,SMART_domains:SM00032,Superfamily_domains:SSF57535																	LOW	1	SNV	1			1										PASS		rs771886580	.												T	2	4	90	196673114	196673114	A	T	1	0	0	0	0	0	0	0	1	3041	436	16	4		4	CFH	1	196673114	Silent	SNP	A	C3N-02089_TP	10328690	196673114	52283308	80	28877											
CFH	0	.	GRCh38	chr1	196726596	196726596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcctagatttctaatgaaggGacctaataaaattcaatgtg	15	13	7	6	0	2	2	1	1	1	1	3	3	3	3	2	1	0	0	2	1	7	6	rs758435912		C3N-02089_TP	C3N-02089_NB	G	G																c.2000G>C	p.Gly667Ala	p.G667A	ENST00000367429	13/22	207	183	24	230	230	0	strelka-varscan-mutect	CFH,missense_variant,p.Gly667Ala,ENST00000367429,NM_000186.3;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;	C	ENST00000367429	Transcript	missense_variant	2240/4127	2000/3696	667/1231	G/A	gGa/gCa	rs758435912	1		1	CFH	HGNC	HGNC:4883	protein_coding	YES	CCDS1385.1	ENSP00000356399	P08603	A0A024R962	UPI000013C4D1	NM_000186.3	deleterious(0)		13/22		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF373,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		rs758435912	.												C	3	2	90	196726596	196726596	G	C	1	0	0	0	0	1	0	0	0	3041	1174	41	4		4	CFH	1	196726596	Missense_Mutation	SNP	G	C3N-02089_TP	53482	196726596	52229826	81	28878											
ASPM	0	.	GRCh38	chr1	197100643	197100643	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggtttgccacgtcctaaAataatgctgtaaagtgatag	12	13	9	7	1	1	1	0	1	1	0	2	1	2	1	2	1	2	3	2	1	6	5	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.8608T>G	p.Phe2870Val	p.F2870V	ENST00000367409	18/28	292	259	33	312	311	1	strelka-varscan-mutect	ASPM,missense_variant,p.Phe2870Val,ENST00000367409,NM_018136.4;ASPM,missense_variant,p.Phe856Val,ENST00000612785,;ASPM,intron_variant,,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000367408,;	C	ENST00000367409	Transcript	missense_variant	8865/10887	8608/10434	2870/3477	F/V	Ttt/Gtt		1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4	tolerated(0.11)		18/28		Pfam_domain:PF00612,PROSITE_profiles:PS50096,SMART_domains:SM00015																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	197100643	197100643	A	C	1	0	0	0	0	1	0	0	0	1203	14	1	5		5	ASPM	1	197100643	Missense_Mutation	SNP	A	C3N-02089_TP	374047	197100643	51855779	82	28879											
ZBTB41	0	.	GRCh38	chr1	197200402	197200402	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactccactgcaacatttccTtctgaagaatctttatgata	12	14	4	11	0	2	3	0	2	2	1	4	3	4	3	2	0	2	1	2	0	5	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.72A>T	p.Glu24Asp	p.E24D	ENST00000367405	1/10	113	79	34	119	119	0	strelka-varscan-mutect	ZBTB41,missense_variant,p.Glu24Asp,ENST00000367405,NM_194314.2;ZBTB41,non_coding_transcript_exon_variant,,ENST00000467322,;	A	ENST00000367405	Transcript	missense_variant	141/8478	72/2730	24/909	E/D	gaA/gaT		1		-1	ZBTB41	HGNC	HGNC:24819	protein_coding	YES	CCDS30960.1	ENSP00000356375	Q5SVQ8		UPI00001D7DE7	NM_194314.2	tolerated_low_confidence(0.62)		1/10																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	197200402	197200402	T	A	1	0	0	0	0	1	0	0	0	18112	1606	56	4		4	ZBTB41	1	197200402	Missense_Mutation	SNP	T	C3N-02089_TP	99759	197200402	51756020	83	28880											
PIK3C2B	0	.	GRCh38	chr1	204465316	204465316	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagtgtggggccgggagcCcacctttaagagaagagcag	12	5	15	9	1	0	2	0	0	0	2	0	4	0	3	3	3	3	1	3	3	3	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.937G>T	p.Gly313Cys	p.G313C	ENST00000367187	4/34	168	130	38	152	152	0	strelka-varscan-mutect	PIK3C2B,missense_variant,p.Gly313Cys,ENST00000367187,NM_002646.3;PIK3C2B,missense_variant,p.Gly313Cys,ENST00000424712,;PIK3C2B,missense_variant,p.Gly91Cys,ENST00000367184,;PIK3C2B,downstream_gene_variant,,ENST00000415899,;PIK3C2B,downstream_gene_variant,,ENST00000429009,;	A	ENST00000367187	Transcript	missense_variant	1494/7686	937/4905	313/1634	G/C	Ggc/Tgc		1		-1	PIK3C2B	HGNC	HGNC:8972	protein_coding	YES	CCDS1446.1	ENSP00000356155	O00750	A2RUF7	UPI00002056D1	NM_002646.3	tolerated(0.13)		4/34		hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF30																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	204465316	204465316	C	A	1	0	0	0	0	1	0	0	0	12005	637	22	2		2	PIK3C2B	1	204465316	Missense_Mutation	SNP	C	C3N-02089_TP	7264914	204465316	44491106	84	28881											
NFASC	0	.	GRCh38	chr1	204954225	204954225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcagattcttcaacatcGccaaggacccccgggtgtcc	10	7	9	15	2	2	1	1	0	1	1	4	2	3	2	4	2	2	1	4	2	2	2	rs769904507		C3N-02089_TP	C3N-02089_NB	G	G																c.253G>T	p.Ala85Ser	p.A85S	ENST00000339876	6/30	324	235	89	298	298	0	strelka-varscan-mutect	NFASC,missense_variant,p.Ala85Ser,ENST00000339876,NM_001005388.2;NFASC,missense_variant,p.Ala85Ser,ENST00000401399,;NFASC,missense_variant,p.Ala79Ser,ENST00000539706,NM_001160332.1;NFASC,missense_variant,p.Ala79Ser,ENST00000360049,NM_015090.3;NFASC,missense_variant,p.Ala79Ser,ENST00000404076,;NFASC,missense_variant,p.Ala79Ser,ENST00000404907,;NFASC,missense_variant,p.Ala55Ser,ENST00000430393,NM_001160331.1;NFASC,missense_variant,p.Ala55Ser,ENST00000367173,;NFASC,missense_variant,p.Ala79Ser,ENST00000513543,;NFASC,missense_variant,p.Ala85Ser,ENST00000403080,NM_001160333.1,NM_001005389.1;NFASC,missense_variant,p.Ala85Ser,ENST00000505079,;NFASC,non_coding_transcript_exon_variant,,ENST00000404977,;NFASC,upstream_gene_variant,,ENST00000504149,;NFASC,missense_variant,p.Ala85Ser,ENST00000504476,;NFASC,non_coding_transcript_exon_variant,,ENST00000514644,;NFASC,upstream_gene_variant,,ENST00000512826,;	T	ENST00000339876	Transcript	missense_variant	581/10333	253/3723	85/1240	A/S	Gcc/Tcc	rs769904507	1		1	NFASC	HGNC	HGNC:29866	protein_coding	YES	CCDS53460.1	ENSP00000344786	O94856		UPI0000237208	NM_001005388.2	tolerated(0.17)		6/30		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF715,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs769904507	.												T	3	4	90	204954225	204954225	G	T	1	0	0	0	0	1	0	0	0	10396	1087	38	1		1	NFASC	1	204954225	Missense_Mutation	SNP	G	C3N-02089_TP	488909	204954225	44002197	85	28882											
ELK4	0	.	GRCh38	chr1	205620562	205620562	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctttatcaatttgaaaaGctttacattggaggagttca	13	15	8	5	0	3	1	2	1	1	0	3	3	3	3	0	2	2	2	0	2	5	7	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.484C>G	p.Leu162Val	p.L162V	ENST00000357992	3/5	297	271	26	338	338	0	strelka-varscan-mutect	ELK4,missense_variant,p.Leu162Val,ENST00000357992,NM_001973.3;ELK4,missense_variant,p.Leu162Val,ENST00000289703,NM_021795.2;ELK4,downstream_gene_variant,,ENST00000468523,;ELK4,missense_variant,p.Leu162Val,ENST00000616704,;RP11-6B6.3,upstream_gene_variant,,ENST00000411645,;	C	ENST00000357992	Transcript	missense_variant	824/10239	484/1296	162/431	L/V	Ctt/Gtt		1		-1	ELK4	HGNC	HGNC:3326	protein_coding	YES	CCDS1456.1	ENSP00000350681	P28324	A0A024R9C2	UPI0000129E67	NM_001973.3	deleterious(0.04)		3/5		hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF21																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	205620562	205620562	G	C	1	0	0	0	0	1	0	0	0	4895	971	34	4		4	ELK4	1	205620562	Missense_Mutation	SNP	G	C3N-02089_TP	666337	205620562	43335860	86	28883											
NUCKS1	0	.	GRCh38	chr1	205718315	205718315	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcttcatcttcagaccCttcatccccagatttctcgg	7	12	8	14	1	5	2	3	0	2	2	7	2	6	2	3	3	0	1	3	3	0	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.697G>T	p.Gly233Trp	p.G233W	ENST00000367142	7/7	164	117	47	168	168	0	strelka-varscan-mutect	NUCKS1,missense_variant,p.Gly233Trp,ENST00000367142,NM_022731.4;NUCKS1,downstream_gene_variant,,ENST00000464938,;	A	ENST00000367142	Transcript	missense_variant	1000/6496	697/732	233/243	G/W	Ggg/Tgg		1		-1	NUCKS1	HGNC	HGNC:29923	protein_coding	YES	CCDS30987.1	ENSP00000356110	Q9H1E3		UPI000013096A	NM_022731.4	deleterious(0)		7/7		hmmpanther:PTHR15361																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	205718315	205718315	C	A	1	0	0	0	0	1	0	0	0	10786	681	24	2		2	NUCKS1	1	205718315	Missense_Mutation	SNP	C	C3N-02089_TP	97753	205718315	43238107	87	28884											
CR1	0	.	GRCh38	chr1	207614409	207614409	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttttttttctttaggttccGattaaaaggcaggtctgcta	8	19	8	6	1	2	0	0	0	2	0	3	1	3	0	1	3	1	3	1	3	4	9	rs55704352		C3N-02089_TP	C3N-02089_NB	G	G																c.6581G>C	p.Arg2194Pro	p.R2194P	ENST00000367049	40/47	216	164	52	229	229	0	strelka-varscan-mutect	CR1,missense_variant,p.Arg2194Pro,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Arg1744Pro,ENST00000367051,;CR1,missense_variant,p.Arg1744Pro,ENST00000367052,;CR1,missense_variant,p.Arg1744Pro,ENST00000367053,;CR1,missense_variant,p.Arg1744Pro,ENST00000400960,NM_000573.3;CR1,intron_variant,,ENST00000529814,;CR1,downstream_gene_variant,,ENST00000534202,;	C	ENST00000367049	Transcript	missense_variant	6581/7470	6581/7470	2194/2489	R/P	cGa/cCa	rs55704352,COSM5417191,COSM5417192	1		1	CR1	HGNC	HGNC:2334	protein_coding	YES	CCDS44308.1	ENSP00000356016		E9PDY4	UPI000040E8CF	NM_000651.4	deleterious(0.05)		40/47		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs55704352	.												C	3	2	90	207614409	207614409	G	C	1	0	0	0	0	1	0	0	0	3638	1072	37	4		4	CR1	1	207614409	Missense_Mutation	SNP	G	C3N-02089_TP	1896094	207614409	41342013	88	28885											
C1orf74	0	.	GRCh38	chr1	209783492	209783492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagctggcttcagtcccCgggccacagccagcacctct	7	6	10	18	1	2	0	1	0	1	0	3	0	3	0	5	2	3	4	5	2	0	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.143G>A	p.Arg48Gln	p.R48Q	ENST00000294811	2/2	157	130	27	135	135	0	strelka-varscan-mutect	C1orf74,missense_variant,p.Arg48Gln,ENST00000294811,NM_152485.2;IRF6,downstream_gene_variant,,ENST00000367021,NM_006147.3;IRF6,downstream_gene_variant,,ENST00000542854,NM_001206696.1;TRAF3IP3,downstream_gene_variant,,ENST00000367024,NM_001320143.1;TRAF3IP3,downstream_gene_variant,,ENST00000367025,NM_025228.3;TRAF3IP3,downstream_gene_variant,,ENST00000367026,NM_001320144.1;TRAF3IP3,downstream_gene_variant,,ENST00000400959,;TRAF3IP3,downstream_gene_variant,,ENST00000367023,NM_001287754.1;TRAF3IP3,downstream_gene_variant,,ENST00000477431,;TRAF3IP3,downstream_gene_variant,,ENST00000467830,;TRAF3IP3,downstream_gene_variant,,ENST00000488702,;TRAF3IP3,downstream_gene_variant,,ENST00000476050,;TRAF3IP3,downstream_gene_variant,,ENST00000460314,;TRAF3IP3,downstream_gene_variant,,ENST00000478359,;TRAF3IP3,downstream_gene_variant,,ENST00000471368,;	T	ENST00000294811	Transcript	missense_variant	400/4684	143/810	48/269	R/Q	cGg/cAg		1		-1	C1orf74	HGNC	HGNC:26319	protein_coding	YES	CCDS1491.1	ENSP00000294811	Q96LT6	A0A0A8K8E6	UPI0000073C4E	NM_152485.2	tolerated(0.39)		2/2		Pfam_domain:PF14953,hmmpanther:PTHR31366																	MODERATE	1	SNV	1			1										PASS		rs1293294217	.												T	3	4	90	209783492	209783492	C	T	1	0	0	0	0	1	0	0	0	1998	652	23	1		1	C1orf74	1	209783492	Missense_Mutation	SNP	C	C3N-02089_TP	2169083	209783492	39172930	89	28886											
ITPKB	0	.	GRCh38	chr1	226735863	226735863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtcctgccgctggctttcCcaagtcccctctgattgcac	4	12	8	17	1	1	1	0	1	1	0	4	1	4	1	5	1	2	3	5	1	1	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1596G>T	p.Trp532Cys	p.W532C	ENST00000429204	2/8	78	45	33	62	62	0	strelka-varscan	ITPKB,missense_variant,p.Trp532Cys,ENST00000429204,NM_002221.3;ITPKB,missense_variant,p.Trp532Cys,ENST00000272117,;ITPKB,missense_variant,p.Trp532Cys,ENST00000366784,;	A	ENST00000429204	Transcript	missense_variant	1936/6162	1596/2841	532/946	W/C	tgG/tgT		1		-1	ITPKB	HGNC	HGNC:6179	protein_coding	YES	CCDS1555.1	ENSP00000411152	P27987		UPI000013D92B	NM_002221.3	deleterious_low_confidence(0.02)		2/8		hmmpanther:PTHR12400,hmmpanther:PTHR12400:SF4																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	226735863	226735863	C	A	1	0	0	0	0	1	0	0	0	7824	624	22	2		2	ITPKB	1	226735863	Missense_Mutation	SNP	C	C3N-02089_TP	16952371	226735863	22220559	90	28887											
OBSCN	0	.	GRCh38	chr1	228372789	228372789	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgctcagccagagccgccCtcccccatggctgaggagga	7	5	12	17	2	1	2	1	1	0	1	3	4	3	4	6	3	2	2	6	3	0	0	rs201953118		C3N-02089_TP	C3N-02089_NB	C	C																c.24882C>A	p.=	p.P8294P	ENST00000570156	105/116	499	316	183	465	465	0	strelka-varscan	OBSCN,synonymous_variant,p.=,ENST00000570156,NM_001271223.2;OBSCN,synonymous_variant,p.=,ENST00000366707,;OBSCN,synonymous_variant,p.=,ENST00000422127,NM_001098623.2;OBSCN,synonymous_variant,p.=,ENST00000636875,;OBSCN,synonymous_variant,p.=,ENST00000636476,;	A	ENST00000570156	Transcript	synonymous_variant	24956/26925	24882/26772	8294/8923	P	ccC/ccA	rs201953118	1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2			105/116																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	90	228372789	228372789	C	A	1	0	0	0	0	0	0	0	1	10889	668	24	2		2	OBSCN	1	228372789	Silent	SNP	C	C3N-02089_TP	1636926	228372789	20583633	91	28888											
PCNX2	0	.	GRCh38	chr1	233025357	233025357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctctgtcctcctcgtcgCcctccatgatggcttctacc	4	12	7	18	2	2	1	0	1	2	0	7	1	5	1	6	1	2	1	6	1	1	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.4394G>T	p.Gly1465Val	p.G1465V	ENST00000258229	26/34	171	126	45	186	186	0	strelka-varscan-mutect	PCNX2,missense_variant,p.Gly1465Val,ENST00000258229,NM_014801.3;PCNX2,missense_variant,p.Gly117Val,ENST00000344698,;PCNX2,non_coding_transcript_exon_variant,,ENST00000522067,;PCNX2,non_coding_transcript_exon_variant,,ENST00000429988,;PCNX2,intron_variant,,ENST00000462233,;	A	ENST00000258229	Transcript	missense_variant	4629/7518	4394/6414	1465/2137	G/V	gGc/gTc		1		-1	PCNX2	HGNC	HGNC:8736	protein_coding	YES	CCDS44335.1	ENSP00000258229	A6NKB5		UPI0000F58F23	NM_014801.3	deleterious(0)		26/34		hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	233025357	233025357	C	A	1	0	0	0	0	1	0	0	0	11680	739	26	2		2	PCNX2	1	233025357	Missense_Mutation	SNP	C	C3N-02089_TP	4652568	233025357	15931065	92	28889											
NID1	0	.	GRCh38	chr1	235990940	235990940	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcatggtatttccctccagGggcaggcgctcaatcttccc	6	11	9	15	1	3	0	2	0	1	0	6	0	6	0	3	4	0	3	3	4	2	3	rs372553525		C3N-02089_TP	C3N-02089_NB	G	G																c.2874C>A	p.=	p.P958P	ENST00000264187	14/20	190	127	63	206	206	0	strelka-varscan-mutect	NID1,synonymous_variant,p.=,ENST00000264187,NM_002508.2;NID1,synonymous_variant,p.=,ENST00000366595,;	T	ENST00000264187	Transcript	synonymous_variant	2957/5864	2874/3744	958/1247	P	ccC/ccA	rs372553525	1		-1	NID1	HGNC	HGNC:7821	protein_coding	YES	CCDS1608.1	ENSP00000264187	P14543		UPI000013D4D9	NM_002508.2			14/20		Gene3D:2.120.10.30,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF107,Superfamily_domains:SSF63825																	LOW	1	SNV	1			1										PASS		rs372553525	.												T	2	4	90	235990940	235990940	G	T	1	0	0	0	0	0	0	0	1	10447	1219	43	2		2	NID1	1	235990940	Silent	SNP	G	C3N-02089_TP	2965583	235990940	12965482	93	28890											
ACTN2	0	.	GRCh38	chr1	236755050	236755050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagctccatccagatcacagGagccctggaagaccagatga	13	5	11	12	0	1	4	1	1	0	3	3	7	3	6	4	2	2	1	4	2	1	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2006G>T	p.Gly669Val	p.G669V	ENST00000542672	17/21	405	263	142	377	375	2	strelka-varscan-mutect	ACTN2,missense_variant,p.Gly461Val,ENST00000546208,NM_001278344.1;ACTN2,missense_variant,p.Gly669Val,ENST00000542672,NM_001278343.1;ACTN2,missense_variant,p.Gly669Val,ENST00000366578,NM_001103.3;ACTN2,non_coding_transcript_exon_variant,,ENST00000461367,;	T	ENST00000542672	Transcript	missense_variant	2226/4906	2006/2685	669/894	G/V	gGa/gTa		1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1	deleterious(0.02)		17/21		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	236755050	236755050	G	T	1	0	0	0	0	1	0	0	0	249	1174	41	2		2	ACTN2	1	236755050	Missense_Mutation	SNP	G	C3N-02089_TP	764110	236755050	12201372	94	28891											
WDR64	0	.	GRCh38	chr1	241757308	241757309	+	Frame_Shift_Ins	INS	-	-	C																															gaagatgatatctacctcatINSggtgatctgggagctgcctg																								novel		C3N-02089_TP	C3N-02089_NB	-	-																c.1766_1767insC	p.Met589IlefsTer8	p.M589Ifs*8	ENST00000366552	14/27	100	70	30	119	119	0	sindel-varindel-pindel	WDR64,frameshift_variant,p.Met589IlefsTer8,ENST00000366552,NM_144625.4;WDR64,frameshift_variant,p.Met309IlefsTer8,ENST00000437684,;WDR64,frameshift_variant,p.Met360IlefsTer8,ENST00000414635,;WDR64,frameshift_variant,p.Met68IlefsTer8,ENST00000425826,;WDR64,frameshift_variant,p.Met148IlefsTer8,ENST00000472717,;	C	ENST00000366552	Transcript	frameshift_variant	1973-1974/4371	1766-1767/3246	589/1081	M/IX	atg/atCg		1		1	WDR64	HGNC	HGNC:26570	protein_coding	YES		ENSP00000355510	B1ANS9		UPI0000519142	NM_144625.4			14/27																			HIGH	1	insertion	5			1										PASS		.	.												C	7	5	90	241757308	241757308	-	C	1	0	1	1	0	0	0	0	0	17874	1464	51	0		0	WDR64	1	241757308	Frame_Shift_Ins	INS	-	C3N-02089_TP	5002258	241757308	7199114	95	28892											
OR14A2	0	.	GRCh38	chr1	247723186	247723186	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttccgcaggctgtaggtTacagggttaaatactggagg	9	12	14	6	1	0	0	0	0	0	0	1	1	1	1	1	5	2	6	1	5	5	6	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.858A>T	p.=	p.V286V	ENST00000366485	1/1	210	192	18	196	195	1	strelka-varscan-mutect	OR14A2,synonymous_variant,p.=,ENST00000366485,;RP11-634B7.5,non_coding_transcript_exon_variant,,ENST00000426444,;RP11-634B7.4,intron_variant,,ENST00000449298,;RP11-634B7.5,intron_variant,,ENST00000419891,;	A	ENST00000366485	Transcript	synonymous_variant	858/945	858/945	286/314	V	gtA/gtT		1		-1	OR14A2	HGNC	HGNC:15024	protein_coding	YES		ENSP00000355441	Q96R54	A0A126GWG8	UPI000004A5E7				1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF346,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW		SNV				1										PASS		rs1307361987	.												A	2	1	90	247723186	247723186	T	A	1	0	0	0	0	0	0	0	1	11022	1741	61	4		4	OR14A2	1	247723186	Silent	SNP	T	C3N-02089_TP	5965878	247723186	1233236	96	28893											
OR14A2	0	.	GRCh38	chr1	247723411	247723411	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaatgtaagagatcacaatAcagatgaaacaagaaatgct	21	8	7	5	0	1	4	1	1	0	3	1	5	1	4	0	0	3	2	0	0	8	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.633T>C	p.=	p.C211C	ENST00000366485	1/1	114	75	39	143	143	0	strelka-varscan-mutect	OR14A2,synonymous_variant,p.=,ENST00000366485,;RP11-634B7.5,non_coding_transcript_exon_variant,,ENST00000426444,;RP11-634B7.4,intron_variant,,ENST00000449298,;RP11-634B7.5,intron_variant,,ENST00000419891,;	G	ENST00000366485	Transcript	synonymous_variant	633/945	633/945	211/314	C	tgT/tgC		1		-1	OR14A2	HGNC	HGNC:15024	protein_coding	YES		ENSP00000355441	Q96R54	A0A126GWG8	UPI000004A5E7				1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF346,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW		SNV				1										PASS		.	.												G	2	3	90	247723411	247723411	A	G	1	0	0	0	0	0	0	0	1	11022	389	14	5		5	OR14A2	1	247723411	Silent	SNP	A	C3N-02089_TP	225	247723411	1233011	97	28894											
OR2T2	0	.	GRCh38	chr1	248453322	248453322	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtagatcccgagagatCaatcactttttctgtgagat	10	15	8	8	1	4	3	2	1	2	3	5	6	5	3	1	0	0	1	1	0	2	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.525C>A	p.=	p.I175I	ENST00000342927	1/1	192	147	45	193	193	0	strelka-varscan-mutect	OR2T2,synonymous_variant,p.=,ENST00000342927,NM_001004136.1;	A	ENST00000342927	Transcript	synonymous_variant	525/975	525/975	175/324	I	atC/atA		1		1	OR2T2	HGNC	HGNC:14725	protein_coding	YES	CCDS31116.1	ENSP00000343062	Q6IF00		UPI0000048DB0	NM_001004136.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs1387292180	.												A	2	1	90	248453322	248453322	C	A	1	0	0	0	0	0	0	0	1	11097	816	29	2		2	OR2T2	1	248453322	Silent	SNP	C	C3N-02089_TP	729911	248453322	503100	98	28895											
OR2T34	0	.	GRCh38	chr1	248574325	248574325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacaccaggagctggcacaCcctctggttcatcagcagtg	9	8	11	13	0	3	1	2	1	1	0	3	2	3	2	2	3	2	4	2	3	0	1	rs755310345		C3N-02089_TP	C3N-02089_NB	C	C																c.433G>T	p.Val145Leu	p.V145L	ENST00000328782	1/1	69	49	20	106	106	0	strelka-varscan-mutect	OR2T34,missense_variant,p.Val145Leu,ENST00000328782,NM_001001821.1;	A	ENST00000328782	Transcript	missense_variant	433/957	433/957	145/318	V/L	Gtg/Ttg	rs755310345,COSM3487262	1		-1	OR2T34	HGNC	HGNC:31256	protein_coding	YES	CCDS31120.1	ENSP00000330904	Q8NGX1		UPI0000061ED4	NM_001001821.1	tolerated(0.31)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV			0,1	1										PASS		rs755310345	.												A	3	1	90	248574325	248574325	C	A	1	0	0	0	0	1	0	0	0	11102	507	18	2		2	OR2T34	1	248574325	Missense_Mutation	SNP	C	C3N-02089_TP	121003	248574325	382097	99	28896											
SNTG2	0	.	GRCh38	chr2	1165560	1165560	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgacaggtgcatctgctgAgaaatgctggcgatgaagtt	11	11	13	6	1	1	3	0	3	1	1	1	5	1	3	0	2	3	4	0	2	2	2	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.424A>T	p.Arg142Ter	p.R142*	ENST00000308624	7/17	237	219	18	285	285	0	strelka-varscan-mutect	SNTG2,stop_gained,p.Arg142Ter,ENST00000308624,NM_018968.3;SNTG2,intron_variant,,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000467759,;SNTG2,non_coding_transcript_exon_variant,,ENST00000463442,;SNTG2,non_coding_transcript_exon_variant,,ENST00000494178,;SNTG2,non_coding_transcript_exon_variant,,ENST00000475201,;SNTG2,3_prime_UTR_variant,,ENST00000450962,;SNTG2,downstream_gene_variant,,ENST00000452177,;	T	ENST00000308624	Transcript	stop_gained	553/1888	424/1620	142/539	R/*	Aga/Tga		1		1	SNTG2	HGNC	HGNC:13741	protein_coding	YES	CCDS46220.1	ENSP00000311837	Q9NY99		UPI0000456D73	NM_018968.3			7/17		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF3,SMART_domains:SM00228,Superfamily_domains:SSF50156																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	90	1165560	1165560	A	T	1	0	0	0	0	0	1	0	0	15195	296	11	4		4	SNTG2	2	1165560	Nonsense_Mutation	SNP	A	C3N-02089_TP		1165560	241027969	100	28897											
KLF11	0	.	GRCh38	chr2	10046194	10046194	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccatcctggagaggaagcgGcatgacagcgaaaggtctac	12	6	13	10	2	1	2	0	1	1	1	3	5	3	3	2	4	3	1	2	4	3	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.87G>C	p.=	p.R29R	ENST00000305883	2/4	419	360	59	408	408	0	strelka-varscan-mutect	KLF11,synonymous_variant,p.=,ENST00000535335,NM_001177718.1;KLF11,synonymous_variant,p.=,ENST00000305883,NM_003597.4;KLF11,synonymous_variant,p.=,ENST00000540845,NM_001177716.1;KLF11,synonymous_variant,p.=,ENST00000440320,;KLF11,synonymous_variant,p.=,ENST00000401510,;KLF11,synonymous_variant,p.=,ENST00000448523,;	C	ENST00000305883	Transcript	synonymous_variant	249/4030	87/1539	29/512	R	cgG/cgC		1		1	KLF11	HGNC	HGNC:11811	protein_coding	YES	CCDS1668.1	ENSP00000307023	O14901	Q53QU8	UPI000012DEDA	NM_003597.4			2/4																			LOW	1	SNV	1			1										PASS		rs1199072785	.												C	2	2	90	10046194	10046194	G	C	1	0	0	0	0	0	0	0	1	8204	1190	42	4		4	KLF11	2	10046194	Silent	SNP	G	C3N-02089_TP	8880634	10046194	232147335	101	28898											
NBAS	0	.	GRCh38	chr2	15478240	15478240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacctttgattttttttCtcttctcagtagagagcctc	7	18	5	11	0	3	2	2	1	2	1	6	3	3	2	2	0	1	1	2	0	1	7	rs746801313		C3N-02089_TP	C3N-02089_NB	C	C																c.1133G>T	p.Arg378Ile	p.R378I	ENST00000281513	13/52	238	183	55	278	278	0	strelka-varscan-mutect	NBAS,missense_variant,p.Arg378Ile,ENST00000281513,NM_015909.3;NBAS,downstream_gene_variant,,ENST00000427792,;	A	ENST00000281513	Transcript	missense_variant	1159/7281	1133/7116	378/2371	R/I	aGa/aTa	rs746801313,COSM1185839	1		-1	NBAS	HGNC	HGNC:15625	protein_coding	YES	CCDS1685.1	ENSP00000281513	A2RRP1		UPI00001AEA68	NM_015909.3	deleterious(0)		13/52		hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs746801313	.												A	3	1	90	15478240	15478240	C	A	1	0	0	0	0	1	0	0	0	10197	913	32	2		2	NBAS	2	15478240	Missense_Mutation	SNP	C	C3N-02089_TP	5432046	15478240	226715289	102	28899											
SMC6	0	.	GRCh38	chr2	17720968	17720968	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccattttcctgtcaagtCtagcagcacgatcttctcca	8	14	5	14	1	4	0	1	0	3	0	7	1	6	0	3	0	2	2	3	0	2	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.917G>T	p.Arg306Ile	p.R306I	ENST00000448223	11/28	155	122	33	170	170	0	strelka-varscan-mutect	SMC6,missense_variant,p.Arg306Ile,ENST00000448223,NM_001142286.1;SMC6,missense_variant,p.Arg306Ile,ENST00000351948,NM_024624.5;SMC6,missense_variant,p.Arg306Ile,ENST00000402989,;SMC6,missense_variant,p.Arg332Ile,ENST00000446852,;SMC6,missense_variant,p.Arg306Ile,ENST00000381272,;	A	ENST00000448223	Transcript	missense_variant	1187/5233	917/3276	306/1091	R/I	aGa/aTa		1		-1	SMC6	HGNC	HGNC:20466	protein_coding	YES	CCDS1690.1	ENSP00000404092	Q96SB8		UPI0000073C3B	NM_001142286.1	tolerated(0.22)		11/28		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19306,hmmpanther:PTHR19306:SF5,Pfam_domain:PF02463,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	17720968	17720968	C	A	1	0	0	0	0	1	0	0	0	15080	913	32	2		2	SMC6	2	17720968	Missense_Mutation	SNP	C	C3N-02089_TP	2242728	17720968	224472561	103	28900											
NT5C1B	0	.	GRCh38	chr2	18584522	18584522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctggctcaccggccaggGgcgcgagcagctcgggttct	4	6	18	13	4	2	0	1	0	1	0	3	1	2	0	2	6	2	5	2	6	0	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.895C>T	p.Pro299Ser	p.P299S	ENST00000359846	5/10	224	178	46	216	216	0	strelka-varscan-mutect	NT5C1B,missense_variant,p.Pro239Ser,ENST00000304081,NM_033253.3;NT5C1B,missense_variant,p.Pro299Ser,ENST00000359846,NM_001002006.2,NM_001199087.1,NM_001199088.1,NM_001199086.1;NT5C1B-RDH14,missense_variant,p.Pro299Ser,ENST00000532967,NM_001199104.1;NT5C1B-RDH14,missense_variant,p.Pro241Ser,ENST00000444297,NM_001199103.1;NT5C1B,upstream_gene_variant,,ENST00000418427,;NT5C1B,downstream_gene_variant,,ENST00000416783,;RNU6-1215P,upstream_gene_variant,,ENST00000384441,;NT5C1B,downstream_gene_variant,,ENST00000460052,;NT5C1B,3_prime_UTR_variant,,ENST00000406971,;NT5C1B,non_coding_transcript_exon_variant,,ENST00000490687,;	A	ENST00000359846	Transcript	missense_variant	973/2475	895/1833	299/610	P/S	Ccc/Tcc		1		-1	NT5C1B	HGNC	HGNC:17818	protein_coding	YES	CCDS33150.1	ENSP00000352904	Q96P26	A0A140VJC7	UPI000035B1B0	NM_001002006.2,NM_001199087.1,NM_001199088.1,NM_001199086.1	deleterious_low_confidence(0.01)		5/10		hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	18584522	18584522	G	A	1	0	0	0	0	1	0	0	0	10749	1232	43	3		3	NT5C1B	2	18584522	Missense_Mutation	SNP	G	C3N-02089_TP	863554	18584522	223609007	104	28901											
WDCP	0	.	GRCh38	chr2	24038110	24038110	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaaagactttcaattaacTtttttctatttgctttattt	10	21	5	5	0	2	1	1	0	1	1	2	2	2	2	0	1	2	1	0	1	5	10	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1385A>C	p.Lys462Thr	p.K462T	ENST00000295148	2/4	160	109	51	225	225	0	strelka-varscan-mutect	WDCP,missense_variant,p.Lys462Thr,ENST00000295148,NM_025203.2;WDCP,missense_variant,p.Lys462Thr,ENST00000406895,NM_001142319.1;WDCP,downstream_gene_variant,,ENST00000443232,;MFSD2B,intron_variant,,ENST00000453731,;	G	ENST00000295148	Transcript	missense_variant	1443/3817	1385/2166	462/721	K/T	aAg/aCg		1		-1	WDCP	HGNC	HGNC:26157	protein_coding	YES	CCDS1705.1	ENSP00000295148	Q9H6R7		UPI0000070788	NM_025203.2	deleterious(0.03)		2/4		Pfam_domain:PF15390,hmmpanther:PTHR14897,hmmpanther:PTHR14897:SF5																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	90	24038110	24038110	T	G	1	0	0	0	0	1	0	0	0	17827	1609	56	5		5	WDCP	2	24038110	Missense_Mutation	SNP	T	C3N-02089_TP	5453588	24038110	218155419	105	28902											
SLC4A1AP	0	.	GRCh38	chr2	27669350	27669350	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctcattggaagcttgtcgGattcttgacactttgggatt	7	16	11	7	1	2	1	1	1	1	0	3	4	2	4	0	3	2	2	0	3	1	6	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1308G>T	p.=	p.R436R	ENST00000613058	5/14	142	113	29	111	109	2	strelka-varscan	SLC4A1AP,synonymous_variant,p.=,ENST00000613058,NM_018158.2;SLC4A1AP,synonymous_variant,p.=,ENST00000326019,;SLC4A1AP,synonymous_variant,p.=,ENST00000618046,;SLC4A1AP,synonymous_variant,p.=,ENST00000613517,;SLC4A1AP,3_prime_UTR_variant,,ENST00000427424,;	T	ENST00000613058	Transcript	synonymous_variant	1590/2966	1308/2391	436/796	R	cgG/cgT		1		1	SLC4A1AP	HGNC	HGNC:13813	protein_coding	YES	CCDS33166.1	ENSP00000479964	Q9BWU0		UPI000006F66B	NM_018158.2			5/14		hmmpanther:PTHR23308:SF2,hmmpanther:PTHR23308,Pfam_domain:PF00035																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	27669350	27669350	G	T	1	0	0	0	0	0	0	0	1	14930	1161	41	2		2	SLC4A1AP	2	27669350	Silent	SNP	G	C3N-02089_TP	3631240	27669350	214524179	106	28903											
BRE	0	.	GRCh38	chr2	28298392	28298392	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactctcacatttcagtccgTttatcactttaccaacagtg	11	14	4	12	1	3	0	3	0	1	0	5	0	4	0	2	0	3	1	2	0	4	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.989T>G	p.Val330Gly	p.V330G	ENST00000344773	11/13	270	240	30	231	231	0	strelka-varscan	BRE,missense_variant,p.Val330Gly,ENST00000344773,NM_004899.4;BRE,missense_variant,p.Val330Gly,ENST00000379632,NM_199193.2;BRE,missense_variant,p.Val330Gly,ENST00000361704,NM_199192.2;BRE,missense_variant,p.Val330Gly,ENST00000342045,NM_199194.2;BRE,missense_variant,p.Val330Gly,ENST00000379624,NM_001261840.1,NM_199191.2;	G	ENST00000344773	Transcript	missense_variant	1127/1852	989/1248	330/415	V/G	gTt/gGt		1		1	BRE	HGNC	HGNC:1106	protein_coding	YES	CCDS1764.1	ENSP00000343412	Q9NXR7		UPI0000072A9C	NM_004899.4	deleterious(0)		11/13		hmmpanther:PTHR15189:SF7,hmmpanther:PTHR15189,Pfam_domain:PF06113																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	90	28298392	28298392	T	G	1	0	0	0	0	1	0	0	0	1679	1725	60	5		5	BRE	2	28298392	Missense_Mutation	SNP	T	C3N-02089_TP	629042	28298392	213895137	107	28904											
WDR43	0	.	GRCh38	chr2	28914140	28914140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctcctaatgagagccaGccctttgatggaattacagg	12	9	10	10	0	0	3	0	2	0	2	1	5	1	4	4	2	3	0	4	2	3	3			C3N-02089_TP	C3N-02089_NB	G	G																c.678G>T	p.Gln226His	p.Q226H	ENST00000407426	5/18	240	210	30	235	235	0	strelka-varscan	WDR43,missense_variant,p.Gln226His,ENST00000407426,NM_015131.2;WDR43,missense_variant,p.Gln45His,ENST00000296126,;WDR43,missense_variant,p.Gln137His,ENST00000440983,;SNORD92,downstream_gene_variant,,ENST00000585078,;	T	ENST00000407426	Transcript	missense_variant	734/3533	678/2034	226/677	Q/H	caG/caT	COSM1019951	1		1	WDR43	HGNC	HGNC:28945	protein_coding	YES	CCDS46251.1	ENSP00000384302	Q15061		UPI00001C1DCD	NM_015131.2	tolerated(0.22)		5/18		PROSITE_profiles:PS50294,hmmpanther:PTHR22847,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	90	28914140	28914140	G	T	1	0	0	0	0	1	0	0	0	17855	962	34	2		2	WDR43	2	28914140	Missense_Mutation	SNP	G	C3N-02089_TP	615748	28914140	213279389	108	28905											
FAM179A	0	.	GRCh38	chr2	29052029	29052029	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcagccgcaaggccaCtgacagaggggtggcccctg	8	3	18	12	1	0	2	0	1	0	1	0	3	0	3	4	6	1	2	4	6	1	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2996C>A	p.Thr999Asn	p.T999N	ENST00000379558	20/20	106	88	18	120	120	0	strelka-varscan	FAM179A,missense_variant,p.Thr999Asn,ENST00000379558,NM_199280.2;FAM179A,non_coding_transcript_exon_variant,,ENST00000465300,;FAM179A,non_coding_transcript_exon_variant,,ENST00000475900,;	A	ENST00000379558	Transcript	missense_variant	3347/12691	2996/3060	999/1019	T/N	aCt/aAt		1		1	FAM179A	HGNC	HGNC:33715	protein_coding	YES	CCDS1769.2	ENSP00000368876	Q6ZUX3		UPI00014F7B81	NM_199280.2	deleterious_low_confidence(0.01)		20/20																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	29052029	29052029	C	A	1	0	0	0	0	1	0	0	0	5350	565	20	2		2	FAM179A	2	29052029	Missense_Mutation	SNP	C	C3N-02089_TP	137889	29052029	213141500	109	28906											
EHD3	0	.	GRCh38	chr2	31266416	31266416	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgatgatgctgagtgggtGgtggccagggacaagcccat	9	8	16	8	1	0	2	0	2	0	0	1	4	0	3	2	4	2	1	2	4	1	0	rs754356061		C3N-02089_TP	C3N-02089_NB	G	G																c.1320G>C	p.=	p.V440V	ENST00000322054	6/6	133	118	15	139	139	0	strelka-varscan	EHD3,synonymous_variant,p.=,ENST00000322054,NM_014600.2;	C	ENST00000322054	Transcript	synonymous_variant	1605/4636	1320/1608	440/535	V	gtG/gtC	rs754356061	1		1	EHD3	HGNC	HGNC:3244	protein_coding	YES	CCDS1774.1	ENSP00000327116	Q9NZN3		UPI0000140D07	NM_014600.2			6/6		Gene3D:1.10.238.10,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF67,SMART_domains:SM00027																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	31266416	31266416	G	C	1	0	0	0	0	0	0	0	1	4815	1335	47	4		4	EHD3	2	31266416	Silent	SNP	G	C3N-02089_TP	2214387	31266416	210927113	110	28907											
XDH	0	.	GRCh38	chr2	31379934	31379934	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagcagggtctttctgtagCcagggaagaaggtgtggtcc	8	10	15	8	0	3	1	1	0	2	1	4	2	4	2	2	4	2	2	2	4	3	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1175G>T	p.Gly392Val	p.G392V	ENST00000379416	13/36	585	483	102	580	576	4	strelka-varscan	XDH,missense_variant,p.Gly392Val,ENST00000379416,NM_000379.3;XDH,downstream_gene_variant,,ENST00000491727,;XDH,downstream_gene_variant,,ENST00000476043,;	A	ENST00000379416	Transcript	missense_variant	1224/5688	1175/4002	392/1333	G/V	gGc/gTc		1		-1	XDH	HGNC	HGNC:12805	protein_coding	YES	CCDS1775.1	ENSP00000368727	P47989		UPI0000036BC9	NM_000379.3	deleterious(0)		13/36		PROSITE_profiles:PS51387,hmmpanther:PTHR11908,hmmpanther:PTHR11908:SF78,Gene3D:3.30.465.10,TIGRFAM_domain:TIGR02963,Pfam_domain:PF00941,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF56176																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	31379934	31379934	C	A	1	0	0	0	0	1	0	0	0	17985	739	26	2		2	XDH	2	31379934	Missense_Mutation	SNP	C	C3N-02089_TP	113518	31379934	210813595	111	28908											
LTBP1	0	.	GRCh38	chr2	33188632	33188632	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatcctcctgaagcttcCgtccagatacatcaggtttc	11	11	6	13	1	1	2	1	1	0	1	6	2	5	2	4	1	3	2	4	1	3	3	rs760753760		C3N-02089_TP	C3N-02089_NB	C	C																c.1482C>A	p.=	p.S494S	ENST00000404816	7/34	190	152	38	212	210	2	strelka-varscan	LTBP1,synonymous_variant,p.=,ENST00000404816,NM_206943.2;LTBP1,synonymous_variant,p.=,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,synonymous_variant,p.=,ENST00000404525,NM_001166265.1;LTBP1,synonymous_variant,p.=,ENST00000407925,NM_000627.3;LTBP1,synonymous_variant,p.=,ENST00000402934,;LTBP1,synonymous_variant,p.=,ENST00000432635,;	A	ENST00000404816	Transcript	synonymous_variant	1835/6333	1482/5166	494/1721	S	tcC/tcA	rs760753760	1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2			7/34		hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF39																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	90	33188632	33188632	C	A	1	0	0	0	0	0	0	0	1	8979	639	23	1		1	LTBP1	2	33188632	Silent	SNP	C	C3N-02089_TP	1808698	33188632	209004897	112	28909											
LTBP1	0	.	GRCh38	chr2	33252688	33252688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcagctgatccccctGtgatctcggaagagaaaggg	9	9	12	11	1	2	3	1	2	1	1	4	5	3	4	2	2	2	2	2	2	2	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2011G>A	p.Val671Met	p.V671M	ENST00000404816	11/34	69	61	8	60	60	0	strelka-varscan	LTBP1,missense_variant,p.Val671Met,ENST00000404816,NM_206943.2;LTBP1,missense_variant,p.Val345Met,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,missense_variant,p.Val345Met,ENST00000404525,NM_001166265.1;LTBP1,missense_variant,p.Val345Met,ENST00000407925,NM_000627.3;LTBP1,missense_variant,p.Val345Met,ENST00000402934,;LTBP1,missense_variant,p.Val27Met,ENST00000413303,;LTBP1,upstream_gene_variant,,ENST00000468091,;	A	ENST00000404816	Transcript	missense_variant	2364/6333	2011/5166	671/1721	V/M	Gtg/Atg		1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2	tolerated(0.3)		11/34		Gene3D:3.90.290.10,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF39																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	33252688	33252688	G	A	1	0	0	0	0	1	0	0	0	8979	1377	48	3		3	LTBP1	2	33252688	Missense_Mutation	SNP	G	C3N-02089_TP	64056	33252688	208940841	113	28910											
RASGRP3	0	.	GRCh38	chr2	33558800	33558800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagagggccaccaccagcCaggccacccagactgaacct	12	3	9	17	0	0	3	0	1	0	2	0	3	0	3	7	2	3	0	7	2	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1834C>A	p.Gln612Lys	p.Q612K	ENST00000403687	17/18	292	255	37	232	232	0	strelka-varscan	RASGRP3,missense_variant,p.Gln612Lys,ENST00000403687,NM_001139488.1;RASGRP3,missense_variant,p.Gln612Lys,ENST00000402538,NM_170672.2;RASGRP3,missense_variant,p.Gln611Lys,ENST00000407811,NM_015376.2;AC020594.5,intron_variant,,ENST00000437680,;	A	ENST00000403687	Transcript	missense_variant	2574/4807	1834/2073	612/690	Q/K	Cag/Aag		1		1	RASGRP3	HGNC	HGNC:14545	protein_coding	YES	CCDS46256.1	ENSP00000384192	Q8IV61		UPI0000074694	NM_001139488.1	tolerated(0.72)		17/18																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	33558800	33558800	C	A	1	0	0	0	0	1	0	0	0	13237	595	21	2		2	RASGRP3	2	33558800	Missense_Mutation	SNP	C	C3N-02089_TP	306112	33558800	208634729	114	28911											
VIT	0	.	GRCh38	chr2	36767263	36767263	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccccagaccacaatcagtGggccacaggagccaggagat	13	4	11	13	0	1	2	1	0	0	2	2	4	2	3	5	3	1	0	5	3	1	0			C3N-02089_TP	C3N-02089_NB	G	G																c.657G>T	p.=	p.V219V	ENST00000379242	7/16	51	45	6	48	48	0	strelka-varscan	VIT,synonymous_variant,p.=,ENST00000379242,NM_053276.3;VIT,synonymous_variant,p.=,ENST00000389975,NM_001177969.1;VIT,synonymous_variant,p.=,ENST00000379241,NM_001177971.1;VIT,synonymous_variant,p.=,ENST00000404084,;VIT,synonymous_variant,p.=,ENST00000401530,NM_001177970.1;VIT,5_prime_UTR_variant,,ENST00000497382,;	T	ENST00000379242	Transcript	synonymous_variant	959/2810	657/2082	219/693	V	gtG/gtT	COSM5547793	1		1	VIT	HGNC	HGNC:12697	protein_coding	YES	CCDS33180.1	ENSP00000368544	Q6UXI7		UPI000006E0F8	NM_053276.3			7/16													1						LOW	1	SNV	2		1	1										PASS		.	.												T	2	4	90	36767263	36767263	G	T	1	0	0	0	0	0	0	0	1	17718	1335	47	2		2	VIT	2	36767263	Silent	SNP	G	C3N-02089_TP	3208463	36767263	205426266	115	28912											
GEMIN6	0	.	GRCh38	chr2	38779105	38779105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgggttttaactacagacCcagtctctgccaagtgagta	11	11	10	9	0	1	2	0	1	1	1	2	3	1	2	2	1	3	2	2	1	4	4	rs757128366		C3N-02089_TP	C3N-02089_NB	C	C																c.115C>A	p.Pro39Thr	p.P39T	ENST00000281950	2/3	114	107	7	98	98	0	strelka-varscan	GEMIN6,missense_variant,p.Pro39Thr,ENST00000281950,NM_024775.9;GEMIN6,missense_variant,p.Pro39Thr,ENST00000409011,;GEMIN6,missense_variant,p.Pro39Thr,ENST00000409566,;	A	ENST00000281950	Transcript	missense_variant	231/3728	115/504	39/167	P/T	Cca/Aca	rs757128366	1		1	GEMIN6	HGNC	HGNC:20044	protein_coding	YES	CCDS1799.1	ENSP00000281950	Q8WXD5		UPI000006E325	NM_024775.9	deleterious(0)		2/3		Pfam_domain:PF06372,hmmpanther:PTHR14710,hmmpanther:PTHR14710:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	38779105	38779105	C	A	1	0	0	0	0	1	0	0	0	6206	623	22	2		2	GEMIN6	2	38779105	Missense_Mutation	SNP	C	C3N-02089_TP	2011842	38779105	203414424	116	28913											
MAP4K3	0	.	GRCh38	chr2	39280352	39280352	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacttttgaaaaacatgcaCccatctagggaaacaaagaa	20	7	6	8	0	1	2	0	1	1	1	1	3	1	3	1	1	4	1	1	1	7	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1634G>T	p.Gly545Val	p.G545V	ENST00000263881	23/34	94	73	21	109	109	0	strelka-varscan	MAP4K3,missense_variant,p.Gly545Val,ENST00000263881,NM_003618.3;MAP4K3,missense_variant,p.Gly524Val,ENST00000341681,NM_001270425.1;MAP4K3,missense_variant,p.Gly461Val,ENST00000437545,;SNORA67,downstream_gene_variant,,ENST00000516664,;MAP4K3,upstream_gene_variant,,ENST00000495648,;	A	ENST00000263881	Transcript	missense_variant	1959/4362	1634/2685	545/894	G/V	gGt/gTt		1		-1	MAP4K3	HGNC	HGNC:6865	protein_coding	YES	CCDS1803.1	ENSP00000263881	Q8IVH8		UPI00000747E6	NM_003618.3	deleterious(0)		23/34		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF205,PIRSF_domain:PIRSF038172																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	39280352	39280352	C	A	1	0	0	0	0	1	0	0	0	9185	521	18	2		2	MAP4K3	2	39280352	Missense_Mutation	SNP	C	C3N-02089_TP	501247	39280352	202913177	117	28914											
HAAO	0	.	GRCh38	chr2	42767503	42767503	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagagccttgtgttcgCtcccaggcatacctgtggac	7	9	11	14	1	0	1	0	0	0	1	2	2	1	2	4	2	2	3	4	2	1	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.795G>T	p.Glu265Asp	p.E265D	ENST00000294973	10/10	327	302	25	280	279	1	strelka-varscan	HAAO,missense_variant,p.Glu265Asp,ENST00000294973,NM_012205.2;OXER1,upstream_gene_variant,,ENST00000378661,NM_148962.4;HAAO,downstream_gene_variant,,ENST00000431905,;HAAO,non_coding_transcript_exon_variant,,ENST00000402698,;HAAO,non_coding_transcript_exon_variant,,ENST00000406007,;HAAO,downstream_gene_variant,,ENST00000406924,;HAAO,downstream_gene_variant,,ENST00000404451,;	A	ENST00000294973	Transcript	missense_variant	851/1265	795/861	265/286	E/D	gaG/gaT		1		-1	HAAO	HGNC	HGNC:4796	protein_coding	YES	CCDS33187.1	ENSP00000294973	P46952		UPI000007068E	NM_012205.2	tolerated(0.42)		10/10		Gene3D:2.60.120.10,PIRSF_domain:PIRSF017681,hmmpanther:PTHR15497,Superfamily_domains:SSF51182																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	42767503	42767503	C	A	1	0	0	0	0	1	0	0	0	6819	796	28	2		2	HAAO	2	42767503	Missense_Mutation	SNP	C	C3N-02089_TP	3487151	42767503	199426026	118	28915											
GTF2A1L	0	.	GRCh38	chr2	48646558	48646558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaacagcttggccagcCttcagtaatacaaactagtg	13	11	7	10	0	2	0	2	0	0	0	2	0	2	0	2	1	5	2	2	1	5	6	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2606C>T	p.Pro869Leu	p.P869L	ENST00000394754	8/11	197	176	21	219	219	0	strelka-varscan	STON1-GTF2A1L,missense_variant,p.Pro869Leu,ENST00000394754,NM_172311.2;STON1-GTF2A1L,missense_variant,p.Pro869Leu,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Pro869Leu,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,missense_variant,p.Pro822Leu,ENST00000394751,NM_001198594.1;GTF2A1L,missense_variant,p.Pro165Leu,ENST00000403751,NM_006872.4;GTF2A1L,missense_variant,p.Pro131Leu,ENST00000430487,NM_001193487.2;GTF2A1L,missense_variant,p.Pro174Leu,ENST00000437125,;GTF2A1L,missense_variant,p.Pro131Leu,ENST00000448460,;GTF2A1L,downstream_gene_variant,,ENST00000468326,;RP11-310N16.1,3_prime_UTR_variant,,ENST00000602369,;GTF2A1L,3_prime_UTR_variant,,ENST00000423675,;	T	ENST00000394754	Transcript	missense_variant	2720/3824	2606/3549	869/1182	P/L	cCt/cTt		1		1	STON1-GTF2A1L	HGNC	HGNC:30651	protein_coding	YES	CCDS1840.1	ENSP00000378236		Q53S48	UPI000013C976	NM_172311.2	deleterious(0)		8/11		hmmpanther:PTHR12694,hmmpanther:PTHR12694:SF9,Pfam_domain:PF03153,SMART_domains:SM01371																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	48646558	48646558	C	T	1	0	0	0	0	1	0	0	0	6735	681	24	3		3	GTF2A1L	2	48646558	Missense_Mutation	SNP	C	C3N-02089_TP	5879055	48646558	193546971	119	28916											
GTF2A1L	0	.	GRCh38	chr2	48669871	48669871	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaatttctagggaatatTgacgggggagatctgaaggt	13	11	14	3	1	2	4	0	3	2	1	2	6	2	5	0	4	0	0	0	4	6	4	rs750466102		C3N-02089_TP	C3N-02089_NB	T	T																c.3240T>C	p.=	p.I1080I	ENST00000394754	9/11	206	174	32	267	267	0	strelka-varscan	STON1-GTF2A1L,synonymous_variant,p.=,ENST00000394754,NM_172311.2;STON1-GTF2A1L,synonymous_variant,p.=,ENST00000405008,;STON1-GTF2A1L,synonymous_variant,p.=,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,synonymous_variant,p.=,ENST00000394751,NM_001198594.1;GTF2A1L,synonymous_variant,p.=,ENST00000403751,NM_006872.4;GTF2A1L,synonymous_variant,p.=,ENST00000430487,NM_001193487.2;GTF2A1L,synonymous_variant,p.=,ENST00000508440,;RP11-310N16.1,intron_variant,,ENST00000602369,;	C	ENST00000394754	Transcript	synonymous_variant	3354/3824	3240/3549	1080/1182	I	atT/atC	rs750466102	1		1	STON1-GTF2A1L	HGNC	HGNC:30651	protein_coding	YES	CCDS1840.1	ENSP00000378236		Q53S48	UPI000013C976	NM_172311.2			9/11		hmmpanther:PTHR12694,hmmpanther:PTHR12694:SF9,Pfam_domain:PF03153,SMART_domains:SM01371																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	48669871	48669871	T	C	1	0	0	0	0	0	0	0	1	6735	1800	63	5		5	GTF2A1L	2	48669871	Silent	SNP	T	C3N-02089_TP	23313	48669871	193523658	120	28917											
NRXN1	0	.	GRCh38	chr2	50620086	50620086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtcggctgtgctgggaCtgcctccaacatagaaaaag	12	7	13	9	1	0	1	0	0	0	1	2	3	1	2	2	3	3	2	2	3	5	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1376G>A	p.Ser459Asn	p.S459N	ENST00000404971	9/24	76	66	10	94	94	0	strelka-varscan	NRXN1,missense_variant,p.Ser419Asn,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Ser411Asn,ENST00000625672,;NRXN1,missense_variant,p.Ser459Asn,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Ser419Asn,ENST00000401669,;NRXN1,missense_variant,p.Ser407Asn,ENST00000405472,;NRXN1,missense_variant,p.Ser411Asn,ENST00000630543,;NRXN1,missense_variant,p.Ser391Asn,ENST00000628515,;NRXN1,missense_variant,p.Ser149Asn,ENST00000406859,;NRXN1,missense_variant,p.Ser134Asn,ENST00000402717,;NRXN1,missense_variant,p.Ser146Asn,ENST00000625891,;NRXN1,upstream_gene_variant,,ENST00000495871,;RP11-358H12.1,upstream_gene_variant,,ENST00000634985,;NRXN1,non_coding_transcript_exon_variant,,ENST00000636298,;NRXN1,non_coding_transcript_exon_variant,,ENST00000628761,;NRXN1,downstream_gene_variant,,ENST00000630431,;NRXN1,upstream_gene_variant,,ENST00000637605,;NRXN1,missense_variant,p.Ser146Asn,ENST00000331040,;NRXN1,3_prime_UTR_variant,,ENST00000626249,;	T	ENST00000404971	Transcript	missense_variant	2716/7578	1376/4644	459/1547	S/N	aGt/aAt		1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	deleterious(0)		9/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	50620086	50620086	C	T	1	0	0	0	0	1	0	0	0	10724	565	20	3		3	NRXN1	2	50620086	Missense_Mutation	SNP	C	C3N-02089_TP	1950215	50620086	191573443	121	28918											
BCL11A	0	.	GRCh38	chr2	60461064	60461064	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagcagctttttggacagGccccccgaggccgactcgcc	7	6	12	16	3	0	0	0	0	0	0	1	3	0	1	5	3	3	3	5	3	0	2			C3N-02089_TP	C3N-02089_NB	G	G																c.1848C>A	p.=	p.G616G	ENST00000335712	4/4	72	51	21	90	90	0	strelka-varscan	BCL11A,synonymous_variant,p.=,ENST00000335712,NM_022893.3;BCL11A,synonymous_variant,p.=,ENST00000356842,NM_018014.3;BCL11A,synonymous_variant,p.=,ENST00000358510,;BCL11A,intron_variant,,ENST00000359629,NM_138559.1;BCL11A,intron_variant,,ENST00000489516,;BCL11A,upstream_gene_variant,,ENST00000479026,;BCL11A,non_coding_transcript_exon_variant,,ENST00000477659,;BCL11A,intron_variant,,ENST00000492272,;BCL11A,3_prime_UTR_variant,,ENST00000631857,;	T	ENST00000335712	Transcript	synonymous_variant	2076/5942	1848/2508	616/835	G	ggC/ggA	COSM3582394,COSM3582395	1		-1	BCL11A	HGNC	HGNC:13221	protein_coding	YES	CCDS1862.1	ENSP00000338774	Q9H165	D6W5D9	UPI000013DC00	NM_022893.3			4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	90	60461064	60461064	G	T	1	0	0	0	0	0	0	0	1	1510	1190	42	2		2	BCL11A	2	60461064	Silent	SNP	G	C3N-02089_TP	9840978	60461064	181732465	122	28919											
BCL11A	0	.	GRCh38	chr2	60461232	60461232	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggacctggtggaaggcCtcgctgaagtgctgcatgga	8	7	15	11	1	0	1	0	1	0	0	1	4	0	4	3	5	2	3	3	5	2	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1680G>A	p.=	p.E560E	ENST00000335712	4/4	209	184	25	234	234	0	strelka-varscan	BCL11A,synonymous_variant,p.=,ENST00000335712,NM_022893.3;BCL11A,synonymous_variant,p.=,ENST00000356842,NM_018014.3;BCL11A,synonymous_variant,p.=,ENST00000358510,;BCL11A,intron_variant,,ENST00000359629,NM_138559.1;BCL11A,intron_variant,,ENST00000489516,;BCL11A,upstream_gene_variant,,ENST00000479026,;BCL11A,non_coding_transcript_exon_variant,,ENST00000477659,;BCL11A,intron_variant,,ENST00000492272,;BCL11A,3_prime_UTR_variant,,ENST00000631857,;	T	ENST00000335712	Transcript	synonymous_variant	1908/5942	1680/2508	560/835	E	gaG/gaA		1		-1	BCL11A	HGNC	HGNC:13221	protein_coding	YES	CCDS1862.1	ENSP00000338774	Q9H165	D6W5D9	UPI000013DC00	NM_022893.3			4/4		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	60461232	60461232	C	T	1	0	0	0	0	0	0	0	1	1510	680	24	3		3	BCL11A	2	60461232	Silent	SNP	C	C3N-02089_TP	168	60461232	181732297	123	28920											
UGP2	0	.	GRCh38	chr2	63887569	63887571	+	In_Frame_Del	DEL	AGG	AGG	-																															aacctctatagtcttaatgcAggatctctgacaatgagtga																								novel		C3N-02089_TP	C3N-02089_NB	AGG	AGG																c.1240_1242delGGA	p.Gly414del	p.G414del	ENST00000337130	8/10	265	233	32	279	279	0	sindel-varindel-pindel	UGP2,inframe_deletion,p.Gly414del,ENST00000337130,NM_006759.3;UGP2,inframe_deletion,p.Gly403del,ENST00000394417,NM_001001521.1;UGP2,inframe_deletion,p.Gly403del,ENST00000467648,;UGP2,inframe_deletion,p.Gly423del,ENST00000445915,;UGP2,inframe_deletion,p.Gly414del,ENST00000613823,;VPS54,downstream_gene_variant,,ENST00000409558,NM_001005739.1;UGP2,downstream_gene_variant,,ENST00000488245,;UGP2,downstream_gene_variant,,ENST00000491621,;UGP2,downstream_gene_variant,,ENST00000497883,;UGP2,downstream_gene_variant,,ENST00000475462,;UGP2,downstream_gene_variant,,ENST00000472047,;ACA59,upstream_gene_variant,,ENST00000515966,;UGP2,downstream_gene_variant,,ENST00000487469,;UGP2,downstream_gene_variant,,ENST00000495020,;UGP2,non_coding_transcript_exon_variant,,ENST00000475550,;UGP2,downstream_gene_variant,,ENST00000466642,;UGP2,downstream_gene_variant,,ENST00000487042,;UGP2,downstream_gene_variant,,ENST00000493222,;UGP2,downstream_gene_variant,,ENST00000467999,;UGP2,downstream_gene_variant,,ENST00000497510,;UGP2,downstream_gene_variant,,ENST00000467400,;UGP2,downstream_gene_variant,,ENST00000494536,;UGP2,downstream_gene_variant,,ENST00000496334,;UGP2,downstream_gene_variant,,ENST00000483461,;	-	ENST00000337130	Transcript	inframe_deletion	1715-1717/2338	1239-1241/1527	413-414/508	AG/A	gcAGGa/gca		1		1	UGP2	HGNC	HGNC:12527	protein_coding	YES	CCDS1875.1	ENSP00000338703	Q16851		UPI000000DB95	NM_006759.3			8/10		hmmpanther:PTHR11952,Pfam_domain:PF01704,Gene3D:3.90.550.10,PIRSF_domain:PIRSF000806,Superfamily_domains:SSF53448																	MODERATE	1	deletion	1	1		1										PASS		.	.												-	7	5	90	63887569	63887569	AGG	-	1	0	1	0	1	0	0	0	0	17468	175	7	0		0	UGP2	2	63887569	In_Frame_Del	DEL	AGG	C3N-02089_TP	3426337	63887569	178305960	124	28921											
BMP10	0	.	GRCh38	chr2	68866313	68866313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgacatcaaaagtctccCactcactgttggttccatat	10	13	6	12	0	3	1	2	1	1	0	5	1	4	1	2	1	0	2	2	1	3	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.593G>T	p.Trp198Leu	p.W198L	ENST00000295379	2/2	286	226	60	255	255	0	strelka-varscan	BMP10,missense_variant,p.Trp198Leu,ENST00000295379,NM_014482.1;	A	ENST00000295379	Transcript	missense_variant	752/1584	593/1275	198/424	W/L	tGg/tTg		1		-1	BMP10	HGNC	HGNC:20869	protein_coding	YES	CCDS1890.1	ENSP00000295379	O95393		UPI0000126A11	NM_014482.1	deleterious(0)		2/2		hmmpanther:PTHR11848:SF39,hmmpanther:PTHR11848,Pfam_domain:PF00688																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	68866313	68866313	C	A	1	0	0	0	0	1	0	0	0	1612	595	21	2		2	BMP10	2	68866313	Missense_Mutation	SNP	C	C3N-02089_TP	4978744	68866313	173327216	125	28922											
ALMS1	0	.	GRCh38	chr2	73448469	73448469	+	Frame_Shift_Del	DEL	G	G	-																															taaccgaagagcctttggaaGtttcagctgctcctggccca																								novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1942delG	p.Val648PhefsTer25	p.V648Ffs*25	ENST00000613296	8/23	156	129	27	177	177	0	sindel-varindel-pindel	ALMS1,frameshift_variant,p.Val648PhefsTer25,ENST00000613296,NM_015120.4;ALMS1,frameshift_variant,p.Val606PhefsTer25,ENST00000484298,;ALMS1,frameshift_variant,p.Val648PhefsTer25,ENST00000614410,;ALMS1,upstream_gene_variant,,ENST00000620466,;ALMS1,upstream_gene_variant,,ENST00000423048,;	-	ENST00000613296	Transcript	frameshift_variant	2053/12925	1942/12507	648/4168	V/X	Gtt/tt		1		1	ALMS1	HGNC	HGNC:428	protein_coding	YES	CCDS42697.1	ENSP00000482968		A0A087WZY3	UPI00046209B2	NM_015120.4			8/23		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	90	73448469	73448469	G	-	1	0	1	0	1	0	0	0	0	635	1029	36	0		0	ALMS1	2	73448469	Frame_Shift_Del	DEL	G	C3N-02089_TP	4582156	73448469	168745060	126	28923											
C2orf78	0	.	GRCh38	chr2	73816087	73816087	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccaaaagacccttaaaaagCcccgaagctccctaggcatg	14	5	8	14	1	0	1	0	0	0	1	1	2	1	1	5	1	2	2	5	1	7	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1864C>G	p.Pro622Ala	p.P622A	ENST00000409561	3/3	167	158	9	202	202	0	strelka-varscan	C2orf78,missense_variant,p.Pro622Ala,ENST00000409561,NM_001080474.1;	G	ENST00000409561	Transcript	missense_variant	1985/3045	1864/2769	622/922	P/A	Ccc/Gcc		1		1	C2orf78	HGNC	HGNC:34349	protein_coding	YES	CCDS46338.1	ENSP00000387124	A6NCI8		UPI000015FD87	NM_001080474.1	deleterious(0)		3/3		Pfam_domain:PF15442,hmmpanther:PTHR31466,hmmpanther:PTHR31466:SF1																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	90	73816087	73816087	C	G	1	0	0	0	0	1	0	0	0	2050	739	26	4		4	C2orf78	2	73816087	Missense_Mutation	SNP	C	C3N-02089_TP	367618	73816087	168377442	127	28924											
LRRTM4	0	.	GRCh38	chr2	77519673	77519673	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgttgaaccttaatgataAgccttgtgaccctccagaaa	12	11	8	10	0	0	4	0	3	0	1	1	4	1	4	4	0	2	2	4	0	4	4	rs775751336		C3N-02089_TP	C3N-02089_NB	A	A																c.196T>A	p.Leu66Ile	p.L66I	ENST00000409093	3/4	347	253	94	279	279	0	strelka-varscan	LRRTM4,missense_variant,p.Leu66Ile,ENST00000409088,NM_024993.4;LRRTM4,missense_variant,p.Leu67Ile,ENST00000409911,;LRRTM4,missense_variant,p.Leu67Ile,ENST00000409282,NM_001282928.1;LRRTM4,missense_variant,p.Leu66Ile,ENST00000409093,NM_001282924.1;LRRTM4,missense_variant,p.Leu66Ile,ENST00000409884,NM_001134745.1;LRRTM4,downstream_gene_variant,,ENST00000456154,;	T	ENST00000409093	Transcript	missense_variant	533/2247	196/1773	66/590	L/I	Tta/Ata	rs775751336	1		-1	LRRTM4	HGNC	HGNC:19411	protein_coding	YES	CCDS46346.1	ENSP00000386357	Q86VH4		UPI0000047808	NM_001282924.1	deleterious(0)		3/4		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF1,Gene3D:3.80.10.10,Pfam_domain:PF13855,Superfamily_domains:SSF52058																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	90	77519673	77519673	A	T	1	0	0	0	0	1	0	0	0	8948	69	3	4		4	LRRTM4	2	77519673	Missense_Mutation	SNP	A	C3N-02089_TP	3703586	77519673	164673856	128	28925											
REG3A	0	.	GRCh38	chr2	79158732	79158732	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggagcctttgggacagcgGatccgtgcagagggcagttc	7	9	16	9	2	0	1	0	0	0	1	2	4	1	4	2	4	3	3	2	4	0	3			C3N-02089_TP	C3N-02089_NB	G	G																c.114C>A	p.=	p.I38I	ENST00000393878	2/5	196	131	65	153	153	0	strelka-varscan	REG3A,synonymous_variant,p.=,ENST00000393878,NM_138938.2;REG3A,synonymous_variant,p.=,ENST00000409839,NM_002580.2,NM_138937.2;REG3A,synonymous_variant,p.=,ENST00000305165,;AC011754.1,intron_variant,,ENST00000415201,;REG3A,non_coding_transcript_exon_variant,,ENST00000490901,;REG3A,downstream_gene_variant,,ENST00000464746,;	T	ENST00000393878	Transcript	synonymous_variant	462/1095	114/528	38/175	I	atC/atA	COSM5514395	1		-1	REG3A	HGNC	HGNC:8601	protein_coding	YES	CCDS1965.1	ENSP00000377456	Q06141	Q53S56	UPI0000001C5B	NM_138938.2			2/5		hmmpanther:PTHR22801:SF45,hmmpanther:PTHR22801,Gene3D:3.10.100.10,Superfamily_domains:SSF56436,Prints_domain:PR01504											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	90	79158732	79158732	G	T	1	0	0	0	0	0	0	0	1	13382	1164	41	2		2	REG3A	2	79158732	Silent	SNP	G	C3N-02089_TP	1639059	79158732	163034797	129	28926											
CTNNA2	0	.	GRCh38	chr2	79744404	79744404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgactacacttgtcaaCacaagcaacaaaggcccatc	16	6	7	12	0	1	1	1	1	0	0	2	1	1	1	1	2	4	1	1	2	6	2	rs751493653		C3N-02089_TP	C3N-02089_NB	C	C																c.120C>A	p.Asn40Lys	p.N40K	ENST00000402739	2/18	125	107	18	87	87	0	strelka-varscan	CTNNA2,missense_variant,p.Asn40Lys,ENST00000466387,;CTNNA2,missense_variant,p.Asn40Lys,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Asn40Lys,ENST00000402739,NM_001282597.2;CTNNA2,missense_variant,p.Asn40Lys,ENST00000629316,NM_001164883.1;CTNNA2,missense_variant,p.Asn40Lys,ENST00000409971,;CTNNA2,missense_variant,p.Asn40Lys,ENST00000451966,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000508970,;	A	ENST00000402739	Transcript	missense_variant	125/3684	120/2862	40/953	N/K	aaC/aaA	rs751493653	1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2	deleterious(0.03)		2/18		Pfam_domain:PF01044,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	79744404	79744404	C	A	1	0	0	0	0	1	0	0	0	3822	477	17	2		2	CTNNA2	2	79744404	Missense_Mutation	SNP	C	C3N-02089_TP	585672	79744404	162449125	130	28927											
LRRTM1	0	.	GRCh38	chr2	80302883	80302883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcaatcccacaggttccCggccagggtgatgcttgtca	7	8	11	15	2	1	1	1	1	0	0	3	1	3	1	4	3	1	3	4	3	1	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.937G>T	p.Gly313Trp	p.G313W	ENST00000295057	2/2	226	189	37	208	208	0	strelka-varscan	LRRTM1,missense_variant,p.Gly313Trp,ENST00000295057,;LRRTM1,missense_variant,p.Gly313Trp,ENST00000409148,NM_178839.4;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.2;CTNNA2,intron_variant,,ENST00000629316,NM_001164883.1;CTNNA2,upstream_gene_variant,,ENST00000541047,NM_001282600.1;LRRTM1,downstream_gene_variant,,ENST00000416268,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000415098,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.Gly313Trp,ENST00000433224,;LRRTM1,missense_variant,p.Gly313Trp,ENST00000417012,;	A	ENST00000295057	Transcript	missense_variant	1594/2599	937/1569	313/522	G/W	Ggg/Tgg		1		-1	LRRTM1	HGNC	HGNC:19408	protein_coding	YES	CCDS1966.1	ENSP00000295057	Q86UE6		UPI000013E1FE		deleterious(0)		2/2		Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	80302883	80302883	C	A	1	0	0	0	0	1	0	0	0	8945	652	23	1		1	LRRTM1	2	80302883	Missense_Mutation	SNP	C	C3N-02089_TP	558479	80302883	161890646	131	28928											
DNAH6	0	.	GRCh38	chr2	84605514	84605514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctaaggtggaggactcttgGaaaacaactgaatttgtcat	13	12	10	6	0	3	1	1	1	2	0	3	4	3	4	0	4	2	0	0	4	5	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.3096G>T	p.Trp1032Cys	p.W1032C	ENST00000389394	20/77	147	121	26	141	141	0	strelka-varscan	DNAH6,missense_variant,p.Trp1032Cys,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Trp1032Cys,ENST00000237449,;	T	ENST00000389394	Transcript	missense_variant	3233/12795	3096/12477	1032/4158	W/C	tgG/tgT		1		1	DNAH6	HGNC	HGNC:2951	protein_coding	YES	CCDS46348.1	ENSP00000374045	Q9C0G6		UPI000163AC9D	NM_001370.1	deleterious(0)		20/77		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136,Pfam_domain:PF08393																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	84605514	84605514	G	T	1	0	0	0	0	1	0	0	0	4420	1183	41	2		2	DNAH6	2	84605514	Missense_Mutation	SNP	G	C3N-02089_TP	4302631	84605514	157588015	132	28929											
USP39	0	.	GRCh38	chr2	85630865	85630865	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctctggaaccctcgaaatTtcaaggcacatgtgtctccc	10	10	8	13	1	3	0	1	0	2	0	5	2	3	1	2	2	2	2	2	2	3	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.868T>G	p.Phe290Val	p.F290V	ENST00000323701	6/13	364	310	54	335	334	1	strelka-varscan	USP39,missense_variant,p.Phe290Val,ENST00000323701,NM_006590.3;USP39,missense_variant,p.Phe212Val,ENST00000613444,NM_001256727.1;USP39,missense_variant,p.Phe187Val,ENST00000450066,NM_001256728.1;USP39,missense_variant,p.Phe290Val,ENST00000409470,NM_001256725.1;USP39,missense_variant,p.Phe290Val,ENST00000409766,NM_001256726.1;USP39,missense_variant,p.Phe290Val,ENST00000409025,;USP39,non_coding_transcript_exon_variant,,ENST00000459775,;USP39,non_coding_transcript_exon_variant,,ENST00000493829,;USP39,intron_variant,,ENST00000467885,;	G	ENST00000323701	Transcript	missense_variant	878/2177	868/1698	290/565	F/V	Ttc/Gtc		1		1	USP39	HGNC	HGNC:20071	protein_coding	YES	CCDS33234.1	ENSP00000312981	Q53GS9		UPI000003771A	NM_006590.3	deleterious(0)		6/13		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF521,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	85630865	85630865	T	G	1	0	0	0	0	1	0	0	0	17612	1841	64	5		5	USP39	2	85630865	Missense_Mutation	SNP	T	C3N-02089_TP	1025351	85630865	156562664	133	28930											
POLR1A	0	.	GRCh38	chr2	86100138	86100138	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttccccaggctgtccaggtAtcgagggttcgtaatggatt	7	12	13	9	2	0	0	0	0	0	0	4	2	2	1	3	4	0	5	3	4	2	5	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.112T>A	p.Tyr38Asn	p.Y38N	ENST00000263857	2/34	377	323	54	364	364	0	strelka-varscan	POLR1A,missense_variant,p.Tyr38Asn,ENST00000263857,NM_015425.3;POLR1A,missense_variant,p.Tyr38Asn,ENST00000409681,;POLR1A,non_coding_transcript_exon_variant,,ENST00000486964,;POLR1A,intron_variant,,ENST00000424089,;POLR1A,intron_variant,,ENST00000409024,;	T	ENST00000263857	Transcript	missense_variant	491/12749	112/5163	38/1720	Y/N	Tac/Aac		1		-1	POLR1A	HGNC	HGNC:17264	protein_coding	YES	CCDS42706.1	ENSP00000263857	O95602		UPI0000D7DB86	NM_015425.3	deleterious(0.04)		2/34		hmmpanther:PTHR19376:SF11,hmmpanther:PTHR19376,Pfam_domain:PF04997,Superfamily_domains:SSF64484																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	86100138	86100138	A	T	1	0	0	0	0	1	0	0	0	12319	449	16	4		4	POLR1A	2	86100138	Missense_Mutation	SNP	A	C3N-02089_TP	469273	86100138	156093391	134	28931											
FABP1	0	.	GRCh38	chr2	88124466	88124466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcccctcaagcactgggagCcacacgctcagagcaccacc	10	4	8	19	1	2	1	2	0	0	1	3	2	3	2	5	1	3	3	5	1	1	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.361G>T	p.Ala121Ser	p.A121S	ENST00000393750	3/3	78	69	9	52	51	1	strelka-varscan	FABP1,missense_variant,p.Ala121Ser,ENST00000393750,;FABP1,intron_variant,,ENST00000295834,NM_001443.2;FABP1,non_coding_transcript_exon_variant,,ENST00000495375,;FABP1,downstream_gene_variant,,ENST00000472846,;	A	ENST00000393750	Transcript	missense_variant	393/1839	361/375	121/124	A/S	Gct/Tct		1		-1	FABP1	HGNC	HGNC:3555	protein_coding			ENSP00000377351		A8MW49	UPI0000D4DEDE		tolerated_low_confidence(0.95)		3/3																			MODERATE		SNV	2			1										PASS		.	.												A	3	1	90	88124466	88124466	C	A	1	0	0	0	0	1	0	0	0	5227	739	26	2		2	FABP1	2	88124466	Missense_Mutation	SNP	C	C3N-02089_TP	2024328	88124466	154069063	135	28932											
KIAA1211L	0	.	GRCh38	chr2	98822646	98822646	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggcgcctcggctcgctCggccttggggcgctccgggg	0	7	19	15	7	0	0	0	0	0	0	4	0	1	0	3	8	0	3	3	8	0	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1627G>T	p.Glu543Ter	p.E543*	ENST00000397899	7/10	27	21	6	24	24	0	strelka-varscan	KIAA1211L,stop_gained,p.Glu543Ter,ENST00000397899,NM_207362.2;KIAA1211L,downstream_gene_variant,,ENST00000423771,;KIAA1211L,downstream_gene_variant,,ENST00000462314,;KIAA1211L,upstream_gene_variant,,ENST00000464413,;	A	ENST00000397899	Transcript	stop_gained	1959/3907	1627/2889	543/962	E/*	Gag/Tag		1		-1	KIAA1211L	HGNC	HGNC:33454	protein_coding	YES	CCDS42720.1	ENSP00000380996	Q6NV74		UPI0000E59245	NM_207362.2			7/10		Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	90	98822646	98822646	C	A	1	0	0	0	0	0	1	0	0	8108	893	31	1		1	KIAA1211L	2	98822646	Nonsense_Mutation	SNP	C	C3N-02089_TP	10698180	98822646	143370883	136	28933											
AFF3	0	.	GRCh38	chr2	100007255	100007255	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgtggaagttgtagtgCtacagatagacgagggctgg	9	10	17	5	1	0	2	0	0	0	2	0	4	0	3	0	4	2	4	0	4	4	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.455G>T	p.Ser152Ile	p.S152I	ENST00000409579	6/25	323	269	54	364	364	0	strelka-varscan	AFF3,missense_variant,p.Ser127Ile,ENST00000409236,;AFF3,missense_variant,p.Ser127Ile,ENST00000317233,NM_002285.2;AFF3,missense_variant,p.Ser152Ile,ENST00000409579,NM_001025108.1;AFF3,missense_variant,p.Ser127Ile,ENST00000423966,;AFF3,missense_variant,p.Ser127Ile,ENST00000432037,;AFF3,missense_variant,p.Ser127Ile,ENST00000441400,;AFF3,downstream_gene_variant,,ENST00000440445,;AFF3,downstream_gene_variant,,ENST00000415384,;AFF3,downstream_gene_variant,,ENST00000424600,;AFF3,downstream_gene_variant,,ENST00000416492,;AFF3,non_coding_transcript_exon_variant,,ENST00000498090,;AFF3,upstream_gene_variant,,ENST00000430789,;	A	ENST00000409579	Transcript	missense_variant	688/4342	455/3756	152/1251	S/I	aGc/aTc		1		-1	AFF3	HGNC	HGNC:6473	protein_coding	YES	CCDS33258.1	ENSP00000386834	P51826		UPI0000545269	NM_001025108.1	deleterious(0.02)		6/25		Low_complexity_(Seg):seg,hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF16,Pfam_domain:PF05110																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	100007255	100007255	C	A	1	0	0	0	0	1	0	0	0	435	797	28	2		2	AFF3	2	100007255	Missense_Mutation	SNP	C	C3N-02089_TP	1184609	100007255	142186274	137	28934											
FBLN7	0	.	GRCh38	chr2	112187354	112187354	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttgtgatgcagcgttcaGaccggcagactggggatctg	8	10	14	9	2	2	3	1	1	1	2	2	4	2	4	1	3	2	3	1	3	0	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1168G>C	p.Asp390His	p.D390H	ENST00000331203	8/8	235	172	63	223	223	0	strelka-varscan	FBLN7,missense_variant,p.Asp390His,ENST00000331203,NM_153214.2;FBLN7,missense_variant,p.Asp212His,ENST00000272559,;FBLN7,missense_variant,p.Asp344His,ENST00000409450,NM_001128165.1;FBLN7,missense_variant,p.Asp256His,ENST00000409667,;FBLN7,intron_variant,,ENST00000409903,;FBLN7,downstream_gene_variant,,ENST00000441565,;RP11-399B17.1,upstream_gene_variant,,ENST00000624058,;	C	ENST00000331203	Transcript	missense_variant	1439/2301	1168/1320	390/439	D/H	Gac/Cac		1		1	FBLN7	HGNC	HGNC:26740	protein_coding	YES	CCDS2095.1	ENSP00000331411	Q53RD9		UPI000004E556	NM_153214.2	deleterious(0)		8/8		hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF287																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	112187354	112187354	G	C	1	0	0	0	0	1	0	0	0	5564	942	33	4		4	FBLN7	2	112187354	Missense_Mutation	SNP	G	C3N-02089_TP	12180099	112187354	130006175	138	28935											
ZC3H6	0	.	GRCh38	chr2	112331809	112331809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaaattaggagatcctaGactacaaaaaaattttgatc	18	11	6	6	0	0	3	0	1	0	2	2	4	1	3	1	1	2	1	1	1	8	6	rs748326608		C3N-02089_TP	C3N-02089_NB	G	G																c.2891G>T	p.Arg964Ile	p.R964I	ENST00000409871	12/12	195	164	31	199	198	1	strelka-varscan	ZC3H6,missense_variant,p.Arg964Ile,ENST00000409871,NM_198581.2;ZC3H6,missense_variant,p.Arg964Ile,ENST00000343936,;ZC3H6,upstream_gene_variant,,ENST00000502881,;	T	ENST00000409871	Transcript	missense_variant	3292/11542	2891/3570	964/1189	R/I	aGa/aTa	rs748326608	1		1	ZC3H6	HGNC	HGNC:24762	protein_coding	YES	CCDS46393.1	ENSP00000386764	P61129		UPI00004215E8	NM_198581.2	deleterious(0)		12/12		hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF22																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	90	112331809	112331809	G	T	1	0	0	0	0	1	0	0	0	18146	942	33	2		2	ZC3H6	2	112331809	Missense_Mutation	SNP	G	C3N-02089_TP	144455	112331809	129861720	139	28936											
IL37	0	.	GRCh38	chr2	112913845	112913845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctccccaccatgaattttGttcacacaagtaaggcctcg	10	10	7	14	1	1	1	1	1	0	0	3	1	2	1	5	1	0	2	5	1	3	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.136G>A	p.Val46Ile	p.V46I	ENST00000263326	2/5	195	173	22	166	165	1	strelka-varscan	IL37,missense_variant,p.Val46Ile,ENST00000263326,NM_014439.3;IL37,missense_variant,p.Val46Ile,ENST00000353225,NM_173204.1;IL37,intron_variant,,ENST00000352179,NM_173202.1;IL37,intron_variant,,ENST00000349806,NM_173203.1;IL37,upstream_gene_variant,,ENST00000311328,NM_173205.1;	A	ENST00000263326	Transcript	missense_variant	178/772	136/657	46/218	V/I	Gtt/Att		1		1	IL37	HGNC	HGNC:15563	protein_coding	YES	CCDS2103.1	ENSP00000263326	Q9NZH6		UPI000003C9C6	NM_014439.3	tolerated(0.22)		2/5		hmmpanther:PTHR10078:SF9,hmmpanther:PTHR10078																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	112913845	112913845	G	A	1	0	0	0	0	1	0	0	0	7598	1377	48	3		3	IL37	2	112913845	Missense_Mutation	SNP	G	C3N-02089_TP	582036	112913845	129279684	140	28937											
IL37	0	.	GRCh38	chr2	112918666	112918666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgctggagtcggcggctCaccccggatggttcatctgc	6	9	13	13	3	3	0	2	0	1	0	4	2	3	2	2	5	2	3	2	5	0	1	rs754171127		C3N-02089_TP	C3N-02089_NB	C	C																c.514C>A	p.His172Asn	p.H172N	ENST00000263326	5/5	205	151	54	227	227	0	strelka-varscan	IL37,missense_variant,p.His172Asn,ENST00000263326,NM_014439.3;IL37,missense_variant,p.His151Asn,ENST00000352179,NM_173202.1;IL37,missense_variant,p.His146Asn,ENST00000311328,NM_173205.1;IL37,missense_variant,p.His132Asn,ENST00000353225,NM_173204.1;IL37,missense_variant,p.His111Asn,ENST00000349806,NM_173203.1;	A	ENST00000263326	Transcript	missense_variant	556/772	514/657	172/218	H/N	Cac/Aac	rs754171127	1		1	IL37	HGNC	HGNC:15563	protein_coding	YES	CCDS2103.1	ENSP00000263326	Q9NZH6		UPI000003C9C6	NM_014439.3	tolerated(0.48)		5/5		hmmpanther:PTHR10078:SF9,hmmpanther:PTHR10078,Gene3D:2.80.10.50,Pfam_domain:PF00340,SMART_domains:SM00125,Superfamily_domains:SSF50353,Prints_domain:PR01360,Prints_domain:PR00264																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	112918666	112918666	C	A	1	0	0	0	0	1	0	0	0	7598	826	29	2		2	IL37	2	112918666	Missense_Mutation	SNP	C	C3N-02089_TP	4821	112918666	129274863	141	28938											
STEAP3	0	.	GRCh38	chr2	119257574	119257574	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtttcctaggccctcggAgcttctgctgctcacttgtg	5	13	10	13	1	2	0	1	0	1	0	4	1	3	1	2	2	3	4	2	2	2	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1303A>G	p.Ser435Gly	p.S435G	ENST00000409811	5/6	150	127	23	108	108	0	strelka-varscan	STEAP3,missense_variant,p.Ser435Gly,ENST00000409811,;STEAP3,intron_variant,,ENST00000393110,NM_182915.2;STEAP3,intron_variant,,ENST00000393106,NM_018234.2,NM_001008410.1;STEAP3,intron_variant,,ENST00000393107,;	G	ENST00000409811	Transcript	missense_variant	1347/2103	1303/1374	435/457	S/G	Agc/Ggc		1		1	STEAP3	HGNC	HGNC:24592	protein_coding			ENSP00000386510		B8ZZX6	UPI000013D445		deleterious_low_confidence(0.05)		5/6																			MODERATE		SNV	1			1										PASS		.	.												G	3	3	90	119257574	119257574	A	G	1	0	0	0	0	1	0	0	0	15656	304	11	5		5	STEAP3	2	119257574	Missense_Mutation	SNP	A	C3N-02089_TP	6338908	119257574	122935955	142	28939											
EPB41L5	0	.	GRCh38	chr2	120090483	120090483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagagttctcatcgatcagGatttattcgactaggatcac	13	12	8	8	2	3	1	3	0	1	1	6	5	3	3	0	2	0	1	0	2	3	5			C3N-02089_TP	C3N-02089_NB	G	G																c.1010G>T	p.Gly337Val	p.G337V	ENST00000263713	12/25	158	126	32	141	141	0	strelka-varscan	EPB41L5,missense_variant,p.Gly337Val,ENST00000263713,NM_020909.3;EPB41L5,missense_variant,p.Gly337Val,ENST00000452780,;EPB41L5,missense_variant,p.Gly337Val,ENST00000443902,NM_001184937.1;EPB41L5,missense_variant,p.Gly337Val,ENST00000443124,NM_001184938.1;EPB41L5,missense_variant,p.Gly337Val,ENST00000331393,NM_001184939.1;EPB41L5,non_coding_transcript_exon_variant,,ENST00000489017,;EPB41L5,upstream_gene_variant,,ENST00000461128,;	T	ENST00000263713	Transcript	missense_variant	1224/6628	1010/2202	337/733	G/V	gGa/gTa	COSM3701924,COSM3701925	1		1	EPB41L5	HGNC	HGNC:19819	protein_coding	YES	CCDS2130.1	ENSP00000263713	Q9HCM4		UPI00001B078A	NM_020909.3	deleterious(0)		12/25		hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF15,Pfam_domain:PF08736,SMART_domains:SM01195,Superfamily_domains:SSF50729											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	90	120090483	120090483	G	T	1	0	0	0	0	1	0	0	0	5004	1174	41	2		2	EPB41L5	2	120090483	Missense_Mutation	SNP	G	C3N-02089_TP	832909	120090483	122103046	143	28940											
TFCP2L1	0	.	GRCh38	chr2	121242410	121242410	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtatttctccttctcttgGgcagttcttttctccatctt	3	21	6	11	0	5	0	0	0	5	0	8	0	5	0	2	2	0	3	2	2	1	8	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.717C>A	p.=	p.A239A	ENST00000263707	7/15	247	192	55	298	297	1	strelka-varscan	TFCP2L1,synonymous_variant,p.=,ENST00000263707,NM_014553.2;	T	ENST00000263707	Transcript	synonymous_variant	815/9292	717/1440	239/479	A	gcC/gcA		1		-1	TFCP2L1	HGNC	HGNC:17925	protein_coding	YES	CCDS2134.1	ENSP00000263707	Q9NZI6		UPI0000072817	NM_014553.2			7/15		hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF18																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	121242410	121242410	G	T	1	0	0	0	0	0	0	0	1	16229	1219	43	2		2	TFCP2L1	2	121242410	Silent	SNP	G	C3N-02089_TP	1151927	121242410	120951119	144	28941											
CNTNAP5	0	.	GRCh38	chr2	124504482	124504482	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggctcgggaaccctgcTgctgagcctggagggtggaa	7	7	18	9	1	0	2	0	2	0	0	1	5	0	5	2	5	4	3	2	5	2	0	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1250T>A	p.Leu417Gln	p.L417Q	ENST00000431078	8/24	304	233	71	264	264	0	strelka-varscan	CNTNAP5,missense_variant,p.Leu417Gln,ENST00000431078,NM_130773.3;	A	ENST00000431078	Transcript	missense_variant	1614/5284	1250/3921	417/1306	L/Q	cTg/cAg		1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3	tolerated(0.15)		8/24		Low_complexity_(Seg):seg,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF665,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	124504482	124504482	T	A	1	0	0	0	0	1	0	0	0	3432	1580	55	4		4	CNTNAP5	2	124504482	Missense_Mutation	SNP	T	C3N-02089_TP	3262072	124504482	117689047	145	28942											
MAP3K19	0	.	GRCh38	chr2	134964873	134964873	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacttctctccaagaaggAgtgcttcaggagctggagag	10	9	14	8	0	2	3	1	1	1	2	4	6	3	5	1	3	2	2	1	3	2	2	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.3964T>A	p.Ser1322Thr	p.S1322T	ENST00000392915	13/13	153	134	19	141	141	0	strelka-varscan	MAP3K19,missense_variant,p.Ser1322Thr,ENST00000392915,;MAP3K19,missense_variant,p.Ser1322Thr,ENST00000375845,NM_025052.4;MAP3K19,missense_variant,p.Ser1209Thr,ENST00000358371,NM_001018044.2;MAP3K19,missense_variant,p.Ser454Thr,ENST00000392917,NM_001282883.1;MAP3K19,missense_variant,p.Ser504Thr,ENST00000375844,NM_001018046.2;MAP3K19,missense_variant,p.Ser456Thr,ENST00000392918,NM_001018047.2;	T	ENST00000392915	Transcript	missense_variant	4648/5030	3964/3987	1322/1328	S/T	Tcc/Acc		1		-1	MAP3K19	HGNC	HGNC:26249	protein_coding	YES	CCDS2176.2	ENSP00000376647		A8MWG7	UPI00004F77F2		tolerated(0.68)		13/13		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	90	134964873	134964873	A	T	1	0	0	0	0	1	0	0	0	9172	304	11	4		4	MAP3K19	2	134964873	Missense_Mutation	SNP	A	C3N-02089_TP	10460391	134964873	107228656	146	28943											
RAB3GAP1	0	.	GRCh38	chr2	135115360	135115360	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcacttatcaggtctgctGgatatcttcaaatcaaagat	13	13	6	9	0	6	1	4	0	2	1	6	2	6	2	0	2	1	1	0	2	4	3			C3N-02089_TP	C3N-02089_NB	G	G																c.627G>T	p.=	p.L209L	ENST00000442034	7/25	122	84	38	121	121	0	strelka-varscan	RAB3GAP1,synonymous_variant,p.=,ENST00000264158,NM_012233.2;RAB3GAP1,synonymous_variant,p.=,ENST00000442034,NM_001172435.1;RAB3GAP1,synonymous_variant,p.=,ENST00000539493,;RAB3GAP1,non_coding_transcript_exon_variant,,ENST00000487003,;	T	ENST00000442034	Transcript	synonymous_variant	637/4185	627/2967	209/988	L	ctG/ctT	COSM5266018,COSM5266019	1		1	RAB3GAP1	HGNC	HGNC:17063	protein_coding	YES	CCDS54402.1	ENSP00000411418	Q15042		UPI0000D4C196	NM_001172435.1			7/25		hmmpanther:PTHR21422:SF9,hmmpanther:PTHR21422											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	90	135115360	135115360	G	T	1	0	0	0	0	0	0	0	1	13094	1335	47	2		2	RAB3GAP1	2	135115360	Silent	SNP	G	C3N-02089_TP	150487	135115360	107078169	147	28944											
LCT	0	.	GRCh38	chr2	135817875	135817875	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacgttaaaggctcctgtGgaggcaccccagaggaagcc	10	6	12	13	1	0	1	0	0	0	1	2	3	2	3	5	4	1	3	5	4	3	1			C3N-02089_TP	C3N-02089_NB	G	G																c.1173C>T	p.=	p.S391S	ENST00000264162	6/17	357	309	48	337	337	0	strelka-varscan	LCT,synonymous_variant,p.=,ENST00000264162,NM_002299.2;AC011893.3,upstream_gene_variant,,ENST00000437007,;LCT,upstream_gene_variant,,ENST00000452974,;	A	ENST00000264162	Transcript	synonymous_variant	1184/6279	1173/5784	391/1927	S	tcC/tcT	COSM3566819	1		-1	LCT	HGNC	HGNC:6530	protein_coding	YES	CCDS2178.1	ENSP00000264162	P09848		UPI000013D4D2	NM_002299.2			6/17		PROSITE_patterns:PS00653,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	90	135817875	135817875	G	A	1	0	0	0	0	0	0	0	1	8599	1335	47	3		3	LCT	2	135817875	Silent	SNP	G	C3N-02089_TP	702515	135817875	106375654	148	28945											
THSD7B	0	.	GRCh38	chr2	136882266	136882266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttctctcttgctgtccCatgcagctcatttggaaggc	5	15	9	12	0	3	0	1	0	2	0	5	1	4	1	1	2	4	4	1	2	1	3	rs748370242		C3N-02089_TP	C3N-02089_NB	C	C																c.88C>A	p.His30Asn	p.H30N	ENST00000272643	1/27	138	120	18	145	145	0	strelka-varscan	THSD7B,missense_variant,p.His30Asn,ENST00000409968,NM_001316349.1;THSD7B,missense_variant,p.His30Asn,ENST00000272643,;THSD7B,missense_variant,p.His30Asn,ENST00000472720,;	A	ENST00000272643	Transcript	missense_variant	88/5939	88/4827	30/1608	H/N	Cat/Aat	rs748370242	1		1	THSD7B	HGNC	HGNC:29348	protein_coding	YES		ENSP00000272643	Q9C0I4		UPI0004E4C87A		tolerated(0.2)		1/27		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	136882266	136882266	C	A	1	0	0	0	0	1	0	0	0	16314	594	21	2		2	THSD7B	2	136882266	Missense_Mutation	SNP	C	C3N-02089_TP	1064391	136882266	105311263	149	28946											
LRP1B	0	.	GRCh38	chr2	140364709	140364709	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccacagtcgtcctctcCatcacacacccagaaatgta	11	9	5	16	1	3	1	1	0	2	1	7	1	4	1	4	0	0	1	4	0	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.11083G>T	p.Gly3695Ter	p.G3695*	ENST00000389484	72/91	227	201	26	216	216	0	strelka-varscan	LRP1B,stop_gained,p.Gly3695Ter,ENST00000389484,NM_018557.2;	A	ENST00000389484	Transcript	stop_gained	12055/16535	11083/13800	3695/4599	G/*	Gga/Tga		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2			72/91		PROSITE_profiles:PS50068,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	90	140364709	140364709	C	A	1	0	0	0	0	0	1	0	0	8850	603	21	2		2	LRP1B	2	140364709	Nonsense_Mutation	SNP	C	C3N-02089_TP	3482443	140364709	101828820	150	28947											
NEB	0	.	GRCh38	chr2	151694400	151694400	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggactccaatcatttTccctttgtttttttcatagt	7	19	6	9	0	2	1	2	1	0	0	4	2	4	2	2	1	0	2	2	1	2	7	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1819A>C	p.Lys607Gln	p.K607Q	ENST00000618972	20/183	241	220	21	229	229	0	strelka-varscan	NEB,missense_variant,p.Lys607Gln,ENST00000618972,NM_001271208.1;NEB,missense_variant,p.Lys607Gln,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Lys607Gln,ENST00000427231,NM_001164507.1;NEB,missense_variant,p.Lys607Gln,ENST00000603639,;NEB,missense_variant,p.Lys607Gln,ENST00000604864,;NEB,missense_variant,p.Lys607Gln,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Lys607Gln,ENST00000172853,;NEB,non_coding_transcript_exon_variant,,ENST00000489048,;	G	ENST00000618972	Transcript	missense_variant	2022/26307	1819/25683	607/8560	K/Q	Aaa/Caa		1		-1	NEB	HGNC	HGNC:7720	protein_coding	YES	CCDS74588.1	ENSP00000484342		A0A087X1N7	UPI0004E4CCB0	NM_001271208.1	tolerated(0.06)		20/183																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	90	151694400	151694400	T	G	1	0	0	0	0	1	0	0	0	10326	1792	62	5		5	NEB	2	151694400	Missense_Mutation	SNP	T	C3N-02089_TP	11329691	151694400	90499129	151	28948											
ACVR1C	0	.	GRCh38	chr2	157542786	157542786	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagccaaccctaagtcCgctatggcacaagtttcaca	12	9	6	14	1	2	0	2	0	0	0	3	0	3	0	3	1	2	3	3	1	4	4	rs114476591		C3N-02089_TP	C3N-02089_NB	C	C																c.1020G>C	p.=	p.A340A	ENST00000243349	6/9	229	209	20	200	200	0	strelka-varscan	ACVR1C,synonymous_variant,p.=,ENST00000243349,NM_145259.2;ACVR1C,synonymous_variant,p.=,ENST00000409680,NM_001111031.1;ACVR1C,synonymous_variant,p.=,ENST00000335450,NM_001111032.1;ACVR1C,synonymous_variant,p.=,ENST00000348328,NM_001111033.1;	G	ENST00000243349	Transcript	synonymous_variant	1381/8994	1020/1482	340/493	A	gcG/gcC	rs114476591	1		-1	ACVR1C	HGNC	HGNC:18123	protein_coding	YES	CCDS2205.1	ENSP00000243349	Q8NER5		UPI000006CFAE	NM_145259.2			6/9		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF58,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	90	157542786	157542786	C	G	1	0	0	0	0	0	0	0	1	266	639	23	4		4	ACVR1C	2	157542786	Silent	SNP	C	C3N-02089_TP	5848386	157542786	84650743	152	28949											
PLA2R1	0	.	GRCh38	chr2	159987222	159987222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggtgaaagggccatctCtcttcatactctgctttttc	7	14	9	11	0	4	1	1	1	3	0	6	1	4	1	1	3	2	1	1	3	2	4			C3N-02089_TP	C3N-02089_NB	C	C																c.1971G>T	p.Glu657Asp	p.E657D	ENST00000283243	12/30	334	295	39	292	292	0	strelka-varscan	PLA2R1,missense_variant,p.Glu657Asp,ENST00000283243,NM_007366.4,NM_001195641.1;PLA2R1,missense_variant,p.Glu657Asp,ENST00000392771,NM_001007267.2;	A	ENST00000283243	Transcript	missense_variant	2178/14371	1971/4392	657/1463	E/D	gaG/gaT	COSM3568340	1		-1	PLA2R1	HGNC	HGNC:9042	protein_coding	YES	CCDS33309.1	ENSP00000283243	Q13018		UPI00001AEA9D	NM_007366.4,NM_001195641.1	tolerated(0.35)		12/30		hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF74											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	90	159987222	159987222	C	A	1	0	0	0	0	1	0	0	0	12106	912	32	2		2	PLA2R1	2	159987222	Missense_Mutation	SNP	C	C3N-02089_TP	2444436	159987222	82206307	153	28950											
PLA2R1	0	.	GRCh38	chr2	160022856	160022856	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cataatatttccacgcatctTtttctttttaaaccaacaaa	14	16	1	10	1	2	0	0	0	2	0	3	0	3	0	2	0	2	1	2	0	6	8	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1103A>T	p.Lys368Ile	p.K368I	ENST00000283243	7/30	61	43	18	72	72	0	strelka-varscan	PLA2R1,missense_variant,p.Lys368Ile,ENST00000283243,NM_007366.4,NM_001195641.1;PLA2R1,missense_variant,p.Lys368Ile,ENST00000392771,NM_001007267.2;	A	ENST00000283243	Transcript	missense_variant	1310/14371	1103/4392	368/1463	K/I	aAa/aTa		1		-1	PLA2R1	HGNC	HGNC:9042	protein_coding	YES	CCDS33309.1	ENSP00000283243	Q13018		UPI00001AEA9D	NM_007366.4,NM_001195641.1	tolerated(0.38)		7/30		Gene3D:3.10.100.10,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF74																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	160022856	160022856	T	A	1	0	0	0	0	1	0	0	0	12106	1855	64	4		4	PLA2R1	2	160022856	Missense_Mutation	SNP	T	C3N-02089_TP	35634	160022856	82170673	154	28951											
IFIH1	0	.	GRCh38	chr2	162282468	162282468	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaggacttgacaacttCtggaaatgatattttcagtt	13	14	7	7	0	3	2	2	2	1	0	3	4	3	4	0	2	1	1	0	2	3	6	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1204G>T	p.Glu402Ter	p.E402*	ENST00000263642	6/16	189	148	41	179	179	0	strelka-varscan	IFIH1,stop_gained,p.Glu402Ter,ENST00000263642,NM_022168.3;	A	ENST00000263642	Transcript	stop_gained	1600/3595	1204/3078	402/1025	E/*	Gaa/Taa		1		-1	IFIH1	HGNC	HGNC:18873	protein_coding	YES	CCDS2217.1	ENSP00000263642	Q9BYX4		UPI000013D436	NM_022168.3			6/16		Gene3D:3.40.50.300,Pfam_domain:PF04851,PROSITE_profiles:PS51192,hmmpanther:PTHR14074,hmmpanther:PTHR14074:SF14,SMART_domains:SM00487,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	90	162282468	162282468	C	A	1	0	0	0	0	0	1	0	0	7420	922	32	2		2	IFIH1	2	162282468	Nonsense_Mutation	SNP	C	C3N-02089_TP	2259612	162282468	79911061	155	28952											
SLC38A11	0	.	GRCh38	chr2	164908703	164908703	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagcgtggctacagtgatGaccatcactgttacaacaat	14	9	8	10	1	1	2	1	2	0	0	1	2	1	2	1	1	4	2	1	1	5	2	rs138230187		C3N-02089_TP	C3N-02089_NB	G	G																c.864C>A	p.=	p.V288V	ENST00000409149	10/11	109	93	16	107	107	0	strelka-varscan	SLC38A11,synonymous_variant,p.=,ENST00000303735,NM_173512.2;SLC38A11,synonymous_variant,p.=,ENST00000409058,;SLC38A11,synonymous_variant,p.=,ENST00000409149,NM_001199148.1;SLC38A11,synonymous_variant,p.=,ENST00000409662,;SLC38A11,synonymous_variant,p.=,ENST00000424914,;AC013463.2,upstream_gene_variant,,ENST00000627211,;AC013463.2,upstream_gene_variant,,ENST00000629991,;AC013463.2,upstream_gene_variant,,ENST00000628960,;SLC38A11,downstream_gene_variant,,ENST00000493887,;SLC38A11,non_coding_transcript_exon_variant,,ENST00000483641,;SLC38A11,non_coding_transcript_exon_variant,,ENST00000470576,;	T	ENST00000409149	Transcript	synonymous_variant	1156/1621	864/1221	288/406	V	gtC/gtA	rs138230187	1		-1	SLC38A11	HGNC	HGNC:26836	protein_coding	YES	CCDS56142.1	ENSP00000386272	Q08AI6		UPI0000E44805	NM_001199148.1			10/11		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF54,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	90	164908703	164908703	G	T	1	0	0	0	0	0	0	0	1	14881	1277	45	2		2	SLC38A11	2	164908703	Silent	SNP	G	C3N-02089_TP	2626235	164908703	77284826	156	28953											
SCN3A	0	.	GRCh38	chr2	165113881	165113881	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaccagttgtgctcaacaaTactgtagcaggtttttcgaa	13	12	8	8	1	1	0	1	0	0	0	2	1	1	0	1	1	5	5	1	1	6	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.3604A>G	p.Ile1202Val	p.I1202V	ENST00000283254	20/28	335	313	22	303	303	0	strelka-varscan	SCN3A,missense_variant,p.Ile1202Val,ENST00000360093,;SCN3A,missense_variant,p.Ile1202Val,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,missense_variant,p.Ile1153Val,ENST00000409101,NM_001081677.1;SCN3A,missense_variant,p.Ile1153Val,ENST00000440431,;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000628085,;AC013463.2,intron_variant,,ENST00000625505,;	C	ENST00000283254	Transcript	missense_variant	4072/9091	3604/6003	1202/2000	I/V	Att/Gtt		1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1	deleterious(0)		20/28		Gene3D:1.20.120.350,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	165113881	165113881	T	C	1	0	0	0	0	1	0	0	0	14187	1406	49	5		5	SCN3A	2	165113881	Missense_Mutation	SNP	T	C3N-02089_TP	205178	165113881	77079648	157	28954											
SCN3A	0	.	GRCh38	chr2	165127873	165127873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttcaattccagtattatTggacatgcagctgtctatct	10	17	6	8	0	3	0	1	0	2	0	4	1	4	1	1	1	2	3	1	1	5	7	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.3151A>G	p.Asn1051Asp	p.N1051D	ENST00000283254	18/28	331	263	68	383	383	0	strelka-varscan	SCN3A,missense_variant,p.Asn1051Asp,ENST00000360093,;SCN3A,missense_variant,p.Asn1051Asp,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,missense_variant,p.Asn1002Asp,ENST00000409101,NM_001081677.1;SCN3A,missense_variant,p.Asn1002Asp,ENST00000440431,;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000628085,;AC013463.2,intron_variant,,ENST00000625505,;SCN3A,upstream_gene_variant,,ENST00000484898,;	C	ENST00000283254	Transcript	missense_variant	3619/9091	3151/6003	1051/2000	N/D	Aat/Gat		1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1	tolerated(0.05)		18/28		Pfam_domain:PF06512,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	165127873	165127873	T	C	1	0	0	0	0	1	0	0	0	14187	1812	63	5		5	SCN3A	2	165127873	Missense_Mutation	SNP	T	C3N-02089_TP	13992	165127873	77065656	158	28955											
SCN3A	0	.	GRCh38	chr2	165137971	165137971	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaagacaatgcaaatagTgatggcaagatcaacaaatg	19	9	8	5	0	1	3	1	1	0	2	1	3	1	3	0	1	2	2	0	1	7	3	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.2299A>T	p.Thr767Ser	p.T767S	ENST00000283254	15/28	422	380	42	412	412	0	strelka-varscan	SCN3A,missense_variant,p.Thr767Ser,ENST00000360093,;SCN3A,missense_variant,p.Thr767Ser,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,missense_variant,p.Thr718Ser,ENST00000409101,NM_001081677.1;SCN3A,missense_variant,p.Thr718Ser,ENST00000440431,;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000625505,;	A	ENST00000283254	Transcript	missense_variant	2767/9091	2299/6003	767/2000	T/S	Act/Tct		1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1	deleterious(0)		15/28		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	165137971	165137971	T	A	1	0	0	0	0	1	0	0	0	14187	1696	59	4		4	SCN3A	2	165137971	Missense_Mutation	SNP	T	C3N-02089_TP	10098	165137971	77055558	159	28956											
SCN2A	0	.	GRCh38	chr2	165326983	165326983	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttgaccaacaccatggaAggtatgttaaaagtcctgcg	13	11	9	8	1	0	1	0	1	0	0	1	2	1	2	3	2	2	2	3	2	5	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.2148A>T	p.Glu716Asp	p.E716D	ENST00000636071	14/28	356	315	41	352	352	0	strelka-varscan	SCN2A,missense_variant,p.Glu716Asp,ENST00000636071,;SCN2A,missense_variant,p.Glu584Asp,ENST00000636985,;SCN2A,missense_variant,p.Glu716Asp,ENST00000637266,;SCN2A,missense_variant,p.Glu716Asp,ENST00000375437,NM_001040142.1;SCN2A,missense_variant,p.Glu716Asp,ENST00000283256,NM_021007.2;SCN2A,missense_variant,p.Glu716Asp,ENST00000375427,NM_001040143.1;SCN2A,missense_variant,p.Glu716Asp,ENST00000631182,;SCN2A,splice_region_variant,,ENST00000635945,;SCN2A,splice_region_variant,,ENST00000638151,;SCN2A,missense_variant,p.Glu716Asp,ENST00000636384,;SCN2A,missense_variant,p.Glu716Asp,ENST00000636769,;SCN2A,splice_region_variant,,ENST00000480032,;SCN2A,splice_region_variant,,ENST00000636662,;SCN2A,splice_region_variant,,ENST00000636135,;SCN2A,3_prime_UTR_variant,,ENST00000637367,;	T	ENST00000636071	Transcript	missense_variant,splice_region_variant	2525/9303	2148/6018	716/2005	E/D	gaA/gaT		1		1	SCN2A	HGNC	HGNC:10588	protein_coding	YES	CCDS33313.1	ENSP00000490107			UPI000002A663		tolerated(0.06)		14/28		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	90	165326983	165326983	A	T	1	0	0	0	0	1	0	0	0	14185	86	3	4		4	SCN2A	2	165326983	Missense_Mutation	SNP	A	C3N-02089_TP	189012	165326983	76866546	160	28957											
SCN1A	0	.	GRCh38	chr2	165991689	165991689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aataagatatcaagacagtgGatccggtcaccactcaccat	15	8	7	11	1	3	2	3	0	0	2	4	3	4	3	3	2	0	0	3	2	4	2	rs775593428		C3N-02089_TP	C3N-02089_NB	G	G																c.5586C>G	p.Ile1862Met	p.I1862M	ENST00000303395	28/28	244	219	25	214	214	0	strelka-varscan	SCN1A,missense_variant,p.Ile1851Met,ENST00000637988,;SCN1A,missense_variant,p.Ile1862Met,ENST00000303395,NM_001202435.1,NM_001165963.1;SCN1A,missense_variant,p.Ile1851Met,ENST00000635750,;SCN1A,missense_variant,p.Ile1862Met,ENST00000423058,;SCN1A,missense_variant,p.Ile1851Met,ENST00000375405,NM_006920.4;SCN1A,missense_variant,p.Ile1834Met,ENST00000409050,NM_001165964.1;SCN1A,3_prime_UTR_variant,,ENST00000635776,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000628933,;AC010127.3,intron_variant,,ENST00000597623,;AC010127.3,intron_variant,,ENST00000630226,;SCN1A,3_prime_UTR_variant,,ENST00000636194,;SCN1A,3_prime_UTR_variant,,ENST00000637038,;SCN1A,downstream_gene_variant,,ENST00000625916,;SCN1A,downstream_gene_variant,,ENST00000473295,;	C	ENST00000303395	Transcript	missense_variant	6004/8533	5586/6030	1862/2009	I/M	atC/atG	rs775593428	1		-1	SCN1A	HGNC	HGNC:10585	protein_coding	YES	CCDS54413.1	ENSP00000303540	P35498		UPI000003C71D	NM_001202435.1,NM_001165963.1	deleterious(0)		28/28		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF220																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	90	165991689	165991689	G	C	1	0	0	0	0	1	0	0	0	14183	1164	41	4		4	SCN1A	2	165991689	Missense_Mutation	SNP	G	C3N-02089_TP	664706	165991689	76201840	161	28958											
SCN7A	0	.	GRCh38	chr2	166406353	166406353	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgcaacttgaaaaagacAgagcatactgttgccaaagg	16	9	9	7	0	0	3	0	1	0	2	0	3	0	3	1	1	5	3	1	1	6	5	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.4276T>A	p.Cys1426Ser	p.C1426S	ENST00000409855	25/25	310	275	35	355	354	1	strelka-varscan	SCN7A,missense_variant,p.Cys1426Ser,ENST00000619410,;SCN7A,missense_variant,p.Cys1426Ser,ENST00000621965,;SCN7A,missense_variant,p.Cys1426Ser,ENST00000409855,NM_002976.3;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	T	ENST00000409855	Transcript	missense_variant	4403/7183	4276/5049	1426/1682	C/S	Tgt/Agt		1		-1	SCN7A	HGNC	HGNC:10594	protein_coding	YES	CCDS46442.1	ENSP00000386796	Q01118		UPI0000209019	NM_002976.3	deleterious(0.02)		25/25		Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14,Pfam_domain:PF00520,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	166406353	166406353	A	T	1	0	0	0	0	1	0	0	0	14192	188	7	4		4	SCN7A	2	166406353	Missense_Mutation	SNP	A	C3N-02089_TP	414664	166406353	75787176	162	28959											
SCN7A	0	.	GRCh38	chr2	166406632	166406632	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggtaggatcctactgtcaTaggcagacatagtcctgggg	11	9	13	8	0	1	1	1	0	0	1	3	2	3	2	2	5	1	2	2	5	5	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.3997A>C	p.Met1333Leu	p.M1333L	ENST00000409855	25/25	64	47	17	76	76	0	strelka-varscan	SCN7A,missense_variant,p.Met1333Leu,ENST00000619410,;SCN7A,missense_variant,p.Met1333Leu,ENST00000621965,;SCN7A,missense_variant,p.Met1333Leu,ENST00000409855,NM_002976.3;SCN7A,3_prime_UTR_variant,,ENST00000424326,;	G	ENST00000409855	Transcript	missense_variant	4124/7183	3997/5049	1333/1682	M/L	Atg/Ctg		1		-1	SCN7A	HGNC	HGNC:10594	protein_coding	YES	CCDS46442.1	ENSP00000386796	Q01118		UPI0000209019	NM_002976.3	tolerated(0.33)		25/25		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	166406632	166406632	T	G	1	0	0	0	0	1	0	0	0	14192	1406	49	5		5	SCN7A	2	166406632	Missense_Mutation	SNP	T	C3N-02089_TP	279	166406632	75786897	163	28960											
SPC25	0	.	GRCh38	chr2	168877346	168877346	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatcaattttaacaagttatCctttttttcttgaatgagct	12	19	4	6	0	2	2	1	2	1	0	3	2	3	2	1	0	2	2	1	0	6	7	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.238G>C	p.Asp80His	p.D80H	ENST00000282074	4/7	240	208	32	249	249	0	strelka-varscan	SPC25,missense_variant,p.Asp80His,ENST00000282074,NM_020675.3;SPC25,missense_variant,p.Asp80His,ENST00000451987,;SPC25,non_coding_transcript_exon_variant,,ENST00000472216,;SPC25,non_coding_transcript_exon_variant,,ENST00000479309,;	G	ENST00000282074	Transcript	missense_variant	380/1354	238/675	80/224	D/H	Gat/Cat		1		-1	SPC25	HGNC	HGNC:24031	protein_coding	YES	CCDS2229.1	ENSP00000282074	Q9HBM1		UPI000006D2C9	NM_020675.3	tolerated(0.09)		4/7		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14281:SF0,hmmpanther:PTHR14281																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	168877346	168877346	C	G	1	0	0	0	0	1	0	0	0	15368	855	30	4		4	SPC25	2	168877346	Missense_Mutation	SNP	C	C3N-02089_TP	2470714	168877346	73316183	164	28961											
LRP2	0	.	GRCh38	chr2	169142686	169142686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcctacctgcatcacactCagtggtgctcccctctataa	8	11	6	16	0	3	0	2	0	1	0	5	0	5	0	4	1	3	3	4	1	3	3	rs367958079		C3N-02089_TP	C3N-02089_NB	C	C																c.13096G>A	p.Glu4366Lys	p.E4366K	ENST00000263816	71/79	486	393	93	421	421	0	strelka-varscan	LRP2,missense_variant,p.Glu4366Lys,ENST00000263816,NM_004525.2;LRP2,upstream_gene_variant,,ENST00000491228,;	T	ENST00000263816	Transcript	missense_variant	13382/15808	13096/13968	4366/4655	E/K	Gag/Aag	rs367958079	1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2	tolerated(0.29)		71/79		Gene3D:2gy5A03,SMART_domains:SM00179,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	169142686	169142686	C	T	1	0	0	0	0	1	0	0	0	8851	835	29	3		3	LRP2	2	169142686	Missense_Mutation	SNP	C	C3N-02089_TP	265340	169142686	73050843	165	28962											
KLHL23	0	.	GRCh38	chr2	169749506	169749506	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagaatgctatgaccctgAacaaaatgaatggagagaga	18	6	10	7	0	0	6	0	3	0	3	0	8	0	6	1	1	2	1	1	1	6	1	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1451A>C	p.Glu484Ala	p.E484A	ENST00000392647	4/4	204	146	58	179	179	0	strelka-varscan	KLHL23,missense_variant,p.Glu484Ala,ENST00000392647,NM_144711.5;KLHL23,missense_variant,p.Glu484Ala,ENST00000272797,NM_001199290.1;KLHL23,5_prime_UTR_variant,,ENST00000498202,;KLHL23,5_prime_UTR_variant,,ENST00000602521,;KLHL23,intron_variant,,ENST00000437875,;KLHL23,intron_variant,,ENST00000448589,;KLHL23,downstream_gene_variant,,ENST00000494387,;	C	ENST00000392647	Transcript	missense_variant	1695/4077	1451/1677	484/558	E/A	gAa/gCa		1		1	KLHL23	HGNC	HGNC:27506	protein_coding	YES	CCDS2236.1	ENSP00000376419	Q8NBE8		UPI000006D999	NM_144711.5	tolerated(0.15)		4/4		Superfamily_domains:0052715,Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF244,SMART_domains:SM00612																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	169749506	169749506	A	C	1	0	0	0	0	1	0	0	0	8242	246	9	5		5	KLHL23	2	169749506	Missense_Mutation	SNP	A	C3N-02089_TP	606820	169749506	72444023	166	28963											
GAD1	0	.	GRCh38	chr2	170858890	170858890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgacgggaaaagctacaCaaggtatggacttgcttttt	13	10	10	8	2	0	0	0	0	0	0	0	3	0	2	0	3	4	3	0	3	6	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1608C>A	p.His536Gln	p.H536Q	ENST00000358196	16/17	426	373	53	441	440	1	strelka-varscan	GAD1,missense_variant,p.His536Gln,ENST00000358196,NM_000817.2;GAD1,3_prime_UTR_variant,,ENST00000625689,;GAD1,3_prime_UTR_variant,,ENST00000493875,;GAD1,3_prime_UTR_variant,,ENST00000414527,;GAD1,non_coding_transcript_exon_variant,,ENST00000478562,;GAD1,non_coding_transcript_exon_variant,,ENST00000488724,;	A	ENST00000358196	Transcript	missense_variant	2158/3604	1608/1785	536/594	H/Q	caC/caA		1		1	GAD1	HGNC	HGNC:4092	protein_coding	YES	CCDS2239.1	ENSP00000350928	Q99259	A0A0S2Z3V5	UPI000002D729	NM_000817.2	tolerated(0.33)		16/17		hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF57,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	170858890	170858890	C	A	1	0	0	0	0	1	0	0	0	6050	492	17	2		2	GAD1	2	170858890	Missense_Mutation	SNP	C	C3N-02089_TP	1109384	170858890	71334639	167	28964											
OSBPL6	0	.	GRCh38	chr2	178331581	178331581	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctggataatggaatgttAaagtattcaaaggcaccact	14	11	9	7	0	1	0	1	0	0	0	2	2	2	2	2	3	0	3	2	3	6	4			C3N-02089_TP	C3N-02089_NB	A	A																c.348A>C	p.Leu116Phe	p.L116F	ENST00000392505	6/26	153	135	18	200	200	0	strelka-varscan	OSBPL6,missense_variant,p.Leu116Phe,ENST00000190611,NM_032523.3;OSBPL6,missense_variant,p.Leu116Phe,ENST00000359685,NM_001201482.1;OSBPL6,missense_variant,p.Leu116Phe,ENST00000392505,NM_001201480.1;OSBPL6,missense_variant,p.Leu116Phe,ENST00000409045,NM_001201481.1;OSBPL6,missense_variant,p.Leu116Phe,ENST00000409631,;OSBPL6,missense_variant,p.Leu95Phe,ENST00000315022,NM_145739.2;OSBPL6,missense_variant,p.Leu116Phe,ENST00000357080,;OSBPL6,non_coding_transcript_exon_variant,,ENST00000477097,;	C	ENST00000392505	Transcript	missense_variant	892/3637	348/2880	116/959	L/F	ttA/ttC	COSM3391147,COSM3391148,COSM84648	1		1	OSBPL6	HGNC	HGNC:16388	protein_coding	YES	CCDS56150.1	ENSP00000376293	Q9BZF3		UPI0000E5A29F	NM_001201480.1	deleterious(0)		6/26		PROSITE_profiles:PS50003,hmmpanther:PTHR10972:SF76,hmmpanther:PTHR10972,Gene3D:2.30.29.30,Pfam_domain:PF15409,SMART_domains:SM00233,Superfamily_domains:SSF50729											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												C	3	2	90	178331581	178331581	A	C	1	0	0	0	0	1	0	0	0	11347	359	13	5		5	OSBPL6	2	178331581	Missense_Mutation	SNP	A	C3N-02089_TP	7472691	178331581	63861948	168	28965											
TTN	0	.	GRCh38	chr2	178564141	178564141	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacaacaagagttgtttTctgaatagtagatttaattt	13	18	7	3	0	1	4	0	2	1	2	1	4	1	4	0	0	1	3	0	0	6	9	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.81991A>T	p.Lys27331Ter	p.K27331*	ENST00000589042	326/363	309	272	37	290	290	0	strelka-varscan	TTN,stop_gained,p.Lys27331Ter,ENST00000589042,NM_001267550.2;TTN,stop_gained,p.Lys25690Ter,ENST00000591111,;TTN,stop_gained,p.Lys25690Ter,ENST00000615779,NM_001256850.1;TTN,stop_gained,p.Lys24763Ter,ENST00000342992,NM_133378.4;TTN,stop_gained,p.Lys18266Ter,ENST00000460472,NM_003319.4;TTN,stop_gained,p.Lys18458Ter,ENST00000342175,NM_133437.4;TTN,stop_gained,p.Lys18391Ter,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000627564,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000438095,;	A	ENST00000589042	Transcript	stop_gained	82216/109224	81991/107976	27331/35991	K/*	Aaa/Taa		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			326/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH		SNV	5			1										PASS		.	.												A	4	1	90	178564141	178564141	T	A	1	0	0	0	0	0	1	0	0	17245	1792	62	4		4	TTN	2	178564141	Nonsense_Mutation	SNP	T	C3N-02089_TP	232560	178564141	63629388	169	28966											
TTN	0	.	GRCh38	chr2	178592584	178592584	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcctttgatgatggcActaagtcttagagtatcacc	10	12	9	10	0	2	3	1	2	1	1	3	3	3	3	2	2	0	3	2	2	3	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.59421T>A	p.Ser19807Arg	p.S19807R	ENST00000589042	301/363	239	209	30	274	274	0	strelka-varscan	TTN,missense_variant,p.Ser19807Arg,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Ser18166Arg,ENST00000591111,;TTN,missense_variant,p.Ser18166Arg,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Ser17239Arg,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Ser10742Arg,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Ser10934Arg,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Ser10867Arg,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000630096,;TTN-AS1,intron_variant,,ENST00000626954,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000629117,;TTN-AS1,intron_variant,,ENST00000590932,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000626138,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000628826,;TTN-AS1,intron_variant,,ENST00000610290,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589907,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000628296,;TTN-AS1,intron_variant,,ENST00000626517,;TTN-AS1,downstream_gene_variant,,ENST00000590743,;	T	ENST00000589042	Transcript	missense_variant	59646/109224	59421/107976	19807/35991	S/R	agT/agA		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			301/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	90	178592584	178592584	A	T	1	0	0	0	0	1	0	0	0	17245	156	6	4		4	TTN	2	178592584	Missense_Mutation	SNP	A	C3N-02089_TP	28443	178592584	63600945	170	28967											
TTN	0	.	GRCh38	chr2	178711169	178711169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttaaaaatattgagtgtgGctgtattgtctaaaaatgat	14	17	8	2	0	1	2	0	2	1	0	1	2	1	2	0	1	0	2	0	1	8	7			C3N-02089_TP	C3N-02089_NB	G	G																c.28067C>A	p.Ala9356Asp	p.A9356D	ENST00000589042	97/363	178	157	21	157	155	2	strelka-varscan	TTN,missense_variant,p.Ala9356Asp,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Ala9039Asp,ENST00000591111,;TTN,missense_variant,p.Ala9039Asp,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Ala8112Asp,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;	T	ENST00000589042	Transcript	missense_variant	28292/109224	28067/107976	9356/35991	A/D	gCc/gAc	COSM4088728,COSM4088729	1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			97/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817:SF10,hmmpanther:PTHR13817,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	90	178711169	178711169	G	T	1	0	0	0	0	1	0	0	0	17245	1203	42	2		2	TTN	2	178711169	Missense_Mutation	SNP	G	C3N-02089_TP	118585	178711169	63482360	171	28968											
TTN	0	.	GRCh38	chr2	178769864	178769864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaagggacattgaagtggGacacctcacactcaaaagag	15	6	12	8	0	2	2	2	1	0	1	2	5	2	5	1	3	0	0	1	3	4	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.8717C>A	p.Ser2906Tyr	p.S2906Y	ENST00000589042	37/363	235	171	64	257	256	1	strelka-varscan	TTN,missense_variant,p.Ser2906Tyr,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Ser2906Tyr,ENST00000591111,;TTN,missense_variant,p.Ser2906Tyr,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Ser2906Tyr,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Ser2860Tyr,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Ser2860Tyr,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Ser2860Tyr,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ser2906Tyr,ENST00000360870,NM_133379.4;TTN,upstream_gene_variant,,ENST00000634225,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,upstream_gene_variant,,ENST00000584485,;TTN-AS1,upstream_gene_variant,,ENST00000629094,;	T	ENST00000589042	Transcript	missense_variant	8942/109224	8717/107976	2906/35991	S/Y	tCc/tAc		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			37/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	178769864	178769864	G	T	1	0	0	0	0	1	0	0	0	17245	1174	41	2		2	TTN	2	178769864	Missense_Mutation	SNP	G	C3N-02089_TP	58695	178769864	63423665	172	28969											
DNAJC10	0	.	GRCh38	chr2	182743627	182743627	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgactgttcctctgcaccAgacatctgtagtaatctgta	9	15	7	10	0	3	2	0	1	3	1	4	2	4	2	2	0	1	5	2	0	3	5	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1221A>T	p.=	p.P407P	ENST00000264065	14/24	313	259	54	307	307	0	strelka-varscan	DNAJC10,synonymous_variant,p.=,ENST00000264065,NM_018981.2;DNAJC10,synonymous_variant,p.=,ENST00000616986,NM_001271581.1;DNAJC10,intron_variant,,ENST00000613960,;DNAJC10,downstream_gene_variant,,ENST00000537515,;DNAJC10,3_prime_UTR_variant,,ENST00000418559,;DNAJC10,non_coding_transcript_exon_variant,,ENST00000491074,;DNAJC10,downstream_gene_variant,,ENST00000444005,;	T	ENST00000264065	Transcript	synonymous_variant	1636/20129	1221/2382	407/793	P	ccA/ccT		1		1	DNAJC10	HGNC	HGNC:24637	protein_coding	YES	CCDS33345.1	ENSP00000264065	Q8IXB1		UPI000007376C	NM_018981.2			14/24		hmmpanther:PTHR24078:SF235,hmmpanther:PTHR24078,Gene3D:3.40.30.10,PIRSF_domain:PIRSF037293,Superfamily_domains:SSF52833																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	182743627	182743627	A	T	1	0	0	0	0	0	0	0	1	4443	175	7	4		4	DNAJC10	2	182743627	Silent	SNP	A	C3N-02089_TP	3973763	182743627	59449902	173	28970											
FSIP2	0	.	GRCh38	chr2	185800365	185800365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacagcctggttggtaacCtaaaaacaagtgaatccaaa	18	8	7	8	0	0	1	0	1	0	0	1	1	1	1	3	2	4	2	3	2	9	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.11326C>A	p.Leu3776Ile	p.L3776I	ENST00000343098	17/23	111	78	33	97	97	0	strelka-varscan	FSIP2,missense_variant,p.Leu3776Ile,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Leu3687Ile,ENST00000424728,;FSIP2-AS1,upstream_gene_variant,,ENST00000436557,;FSIP2-AS1,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;	A	ENST00000343098	Transcript	missense_variant	11326/21054	11326/20991	3776/6996	L/I	Cta/Ata		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	deleterious(0)		17/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	90	185800365	185800365	C	A	1	0	0	0	0	1	0	0	0	5949	680	24	2		2	FSIP2	2	185800365	Missense_Mutation	SNP	C	C3N-02089_TP	3056738	185800365	56393164	174	28971											
FSIP2	0	.	GRCh38	chr2	185805529	185805529	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcttccaccttcttttCatttctaaatccagataata	10	17	3	11	0	4	1	1	0	3	1	6	1	6	1	3	1	0	0	3	1	4	8			C3N-02089_TP	C3N-02089_NB	C	C																c.16490C>A	p.Ser5497Ter	p.S5497*	ENST00000343098	17/23	191	140	51	220	220	0	strelka-varscan	FSIP2,stop_gained,p.Ser5497Ter,ENST00000343098,NM_173651.2;FSIP2,stop_gained,p.Ser5408Ter,ENST00000424728,;FSIP2,upstream_gene_variant,,ENST00000611759,;FSIP2,intron_variant,,ENST00000415915,;	A	ENST00000343098	Transcript	stop_gained	16490/21054	16490/20991	5497/6996	S/*	tCa/tAa	COSM2711231,COSM2711232,COSM5687016,COSM5687017	1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2			17/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6											1,1,1,1						HIGH	1	SNV	5		1,1,1,1	1										PASS		.	.												A	4	1	90	185805529	185805529	C	A	1	0	0	0	0	0	1	0	0	5949	838	29	2		2	FSIP2	2	185805529	Nonsense_Mutation	SNP	C	C3N-02089_TP	5164	185805529	56388000	175	28972											
CALCRL	0	.	GRCh38	chr2	187380499	187380499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgttaacattacactGggtataatttgtccatgttc	9	16	10	6	0	0	0	0	0	0	0	2	0	1	0	1	2	2	3	1	2	4	6	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.376C>A	p.Gln126Lys	p.Q126K	ENST00000409998	8/16	156	140	16	154	153	1	strelka-varscan	CALCRL,missense_variant,p.Gln126Lys,ENST00000409998,;CALCRL,missense_variant,p.Gln126Lys,ENST00000392370,NM_005795.5;CALCRL,missense_variant,p.Gln126Lys,ENST00000410068,NM_001271751.1;CALCRL,downstream_gene_variant,,ENST00000447403,;CALCRL,downstream_gene_variant,,ENST00000410102,;AC007319.1,intron_variant,,ENST00000412276,;AC007319.1,intron_variant,,ENST00000453517,;	T	ENST00000409998	Transcript	missense_variant	1158/5223	376/1386	126/461	Q/K	Cag/Aag		1		-1	CALCRL	HGNC	HGNC:16709	protein_coding	YES	CCDS2293.1	ENSP00000386972	Q16602		UPI00000503EF		tolerated(0.76)		8/16		PROSITE_profiles:PS50227,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF67,Pfam_domain:PF02793,SMART_domains:SM00008,Superfamily_domains:SSF81321,Superfamily_domains:SSF111418																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	187380499	187380499	G	T	1	0	0	0	0	1	0	0	0	2270	1357	47	2		2	CALCRL	2	187380499	Missense_Mutation	SNP	G	C3N-02089_TP	1574970	187380499	54813030	176	28973											
COL3A1	0	.	GRCh38	chr2	188999542	188999542	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggaatgcctggagaaagaGgaggtcttggaagtcctggt	12	8	16	5	0	1	2	0	0	1	2	2	6	2	5	2	6	1	0	2	6	4	1	rs587779606		C3N-02089_TP	C3N-02089_NB	G	G																c.2194G>T	p.Gly732Ter	p.G732*	ENST00000304636	31/51	359	326	33	424	423	1	strelka-varscan	COL3A1,stop_gained,p.Gly732Ter,ENST00000304636,NM_000090.3;COL3A1,stop_gained,p.Gly732Ter,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000637672,;COL3A1,upstream_gene_variant,,ENST00000467886,;	T	ENST00000304636	Transcript	stop_gained	2364/5543	2194/4401	732/1466	G/*	Gga/Tga	rs587779606,CM119023	1		1	COL3A1	HGNC	HGNC:2201	protein_coding	YES	CCDS2297.1	ENSP00000304408	P02461		UPI0000456EBA	NM_000090.3			31/51		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF604										pathogenic							HIGH	1	SNV	1		1,1	1										PASS		.	.												T	4	4	90	188999542	188999542	G	T	1	0	0	0	0	0	1	0	0	3477	1001	35	2		2	COL3A1	2	188999542	Nonsense_Mutation	SNP	G	C3N-02089_TP	1619043	188999542	53193987	177	28974											
DNAH7	0	.	GRCh38	chr2	195960340	195960340	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatggtcatccaacaacatCtgaatttcatcaactgatgc	14	12	5	10	0	4	2	3	2	1	0	5	2	5	2	1	1	4	0	1	1	5	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2811G>T	p.Gln937His	p.Q937H	ENST00000312428	18/65	162	148	14	187	187	0	strelka-varscan	DNAH7,missense_variant,p.Gln937His,ENST00000312428,NM_018897.2;	A	ENST00000312428	Transcript	missense_variant	2912/12394	2811/12075	937/4024	Q/H	caG/caT		1		-1	DNAH7	HGNC	HGNC:18661	protein_coding	YES	CCDS42794.1	ENSP00000311273	Q8WXX0		UPI0000141B95	NM_018897.2	deleterious(0.01)		18/65		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF08393																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	195960340	195960340	C	A	1	0	0	0	0	1	0	0	0	4421	912	32	2		2	DNAH7	2	195960340	Missense_Mutation	SNP	C	C3N-02089_TP	6960798	195960340	46233189	178	28975											
DNAH7	0	.	GRCh38	chr2	196026790	196026790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttacactaagaagataatCctctctcatttcatcagata	14	13	3	11	0	4	3	3	0	1	3	6	3	5	3	2	0	1	0	2	0	5	5	rs753885490		C3N-02089_TP	C3N-02089_NB	C	C																c.637G>T	p.Asp213Tyr	p.D213Y	ENST00000312428	7/65	122	109	13	109	109	0	strelka-varscan	DNAH7,missense_variant,p.Asp213Tyr,ENST00000312428,NM_018897.2;DNAH7,missense_variant,p.Asp213Tyr,ENST00000410072,;DNAH7,downstream_gene_variant,,ENST00000427816,;	A	ENST00000312428	Transcript	missense_variant	738/12394	637/12075	213/4024	D/Y	Gat/Tat	rs753885490	1		-1	DNAH7	HGNC	HGNC:18661	protein_coding	YES	CCDS42794.1	ENSP00000311273	Q8WXX0		UPI0000141B95	NM_018897.2	deleterious(0.03)		7/65		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	196026790	196026790	C	A	1	0	0	0	0	1	0	0	0	4421	855	30	2		2	DNAH7	2	196026790	Missense_Mutation	SNP	C	C3N-02089_TP	66450	196026790	46166739	179	28976											
FAM117B	0	.	GRCh38	chr2	202755582	202755582	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctgtaattcccatcacCaaatcaacaggctcccggtt	11	11	5	14	1	2	0	2	0	0	0	5	0	5	0	4	2	1	3	4	2	3	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1005C>T	p.=	p.T335T	ENST00000392238	5/8	210	163	47	168	167	1	strelka-varscan	FAM117B,synonymous_variant,p.=,ENST00000392238,NM_173511.3;	T	ENST00000392238	Transcript	synonymous_variant	1005/5763	1005/1770	335/589	T	acC/acT		1		1	FAM117B	HGNC	HGNC:14440	protein_coding	YES	CCDS33362.2	ENSP00000376071	Q6P1L5		UPI00015B3B88	NM_173511.3			5/8		Pfam_domain:PF15388,hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF6																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	202755582	202755582	C	T	1	0	0	0	0	0	0	0	1	5269	581	21	3		3	FAM117B	2	202755582	Silent	SNP	C	C3N-02089_TP	6728792	202755582	39437947	180	28977											
IDH1	0	.	GRCh38	chr2	208245337	208245337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttcaaagttatgtaccaGgtatgtcaccttttgggttc	9	15	8	9	0	2	0	2	0	0	0	3	0	2	0	3	2	1	4	3	2	4	7	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.502C>A	p.Leu168Met	p.L168M	ENST00000415913	5/10	258	230	28	276	276	0	strelka-varscan	IDH1,missense_variant,p.Leu168Met,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Leu168Met,ENST00000345146,NM_005896.3;IDH1,missense_variant,p.Leu168Met,ENST00000446179,NM_001282386.1;IDH1,downstream_gene_variant,,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,downstream_gene_variant,,ENST00000462386,;	T	ENST00000415913	Transcript	missense_variant	884/2441	502/1245	168/414	L/M	Ctg/Atg		1		-1	IDH1	HGNC	HGNC:5382	protein_coding	YES	CCDS2381.1	ENSP00000390265	O75874	V9HWJ2	UPI000012D1B4	NM_001282387.1	deleterious_low_confidence(0.03)		5/10		hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,SMART_domains:SM01329,Superfamily_domains:SSF53659																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	208245337	208245337	G	T	1	0	0	0	0	1	0	0	0	7394	991	35	2		2	IDH1	2	208245337	Missense_Mutation	SNP	G	C3N-02089_TP	5489755	208245337	33948192	181	28978											
MAP2	0	.	GRCh38	chr2	209697007	209697007	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaaaacctgctatcaaatAtactagaccaactcatctct	15	13	2	11	0	3	1	2	0	1	1	4	1	3	1	2	0	4	1	2	0	8	6	rs781734507		C3N-02089_TP	C3N-02089_NB	A	A																c.4478A>C	p.Tyr1493Ser	p.Y1493S	ENST00000360351	9/15	108	101	7	186	186	0	strelka-varscan	MAP2,missense_variant,p.Tyr1493Ser,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Tyr1489Ser,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,NM_031845.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000475600,;MAP2,intron_variant,,ENST00000471619,;MAP2,downstream_gene_variant,,ENST00000482864,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;	C	ENST00000360351	Transcript	missense_variant	4984/9711	4478/5484	1493/1827	Y/S	tAt/tCt	rs781734507	1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3	deleterious(0.01)		9/15		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15,Pfam_domain:PF08377																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	90	209697007	209697007	A	C	1	0	0	0	0	1	0	0	0	9157	449	16	5		5	MAP2	2	209697007	Missense_Mutation	SNP	A	C3N-02089_TP	1451670	209697007	32496522	182	28979											
UNC80	0	.	GRCh38	chr2	209840650	209840650	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaggcaaagctccaaggTaaacaggacataacttgtgt	15	8	9	9	0	1	0	1	0	0	0	2	1	2	1	1	3	3	3	1	3	5	3	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.3363+2T>A		p.X1121_splice	ENST00000439458		115	81	34	133	133	0	strelka-varscan	UNC80,splice_donor_variant,,ENST00000439458,NM_032504.1;UNC80,splice_donor_variant,,ENST00000272845,NM_182587.3;UNC80,upstream_gene_variant,,ENST00000477301,;UNC80,splice_donor_variant,,ENST00000489023,;	A	ENST00000439458	Transcript	splice_donor_variant	-/13562	3363/9777	1121/3258				1		1	UNC80	HGNC	HGNC:26582	protein_coding	YES	CCDS46504.1	ENSP00000391088	Q8N2C7		UPI00017E10C9	NM_032504.1				20/63																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	90	209840650	209840650	T	A	1	0	0	0	0	0	0	1	0	17521	1652	57	4		4	UNC80	2	209840650	Splice_Site	SNP	T	C3N-02089_TP	143643	209840650	32352879	183	28980											
SPAG16	0	.	GRCh38	chr2	213310075	213310075	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggaacggaaaacagttcTtccttcaaagcatgcagtac	14	9	8	10	1	3	0	2	0	1	0	4	2	4	2	1	2	5	4	1	2	5	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.296T>A	p.Leu99His	p.L99H	ENST00000331683	4/16	95	67	28	108	108	0	strelka-varscan	SPAG16,missense_variant,p.Leu68His,ENST00000413312,;SPAG16,missense_variant,p.Leu99His,ENST00000331683,NM_024532.4;SPAG16,missense_variant,p.Leu99His,ENST00000447990,;SPAG16,missense_variant,p.Leu99His,ENST00000432529,NM_001025436.2;SPAG16,missense_variant,p.Leu99His,ENST00000272898,;SPAG16,non_coding_transcript_exon_variant,,ENST00000414961,;SPAG16,3_prime_UTR_variant,,ENST00000406979,;SPAG16,intron_variant,,ENST00000452556,;SPAG16,intron_variant,,ENST00000440779,;	A	ENST00000331683	Transcript	missense_variant	391/2177	296/1896	99/631	L/H	cTt/cAt		1		1	SPAG16	HGNC	HGNC:23225	protein_coding	YES	CCDS2396.1	ENSP00000332592	Q8N0X2		UPI00001AFF12	NM_024532.4	tolerated(0.09)		4/16		hmmpanther:PTHR14604:SF3,hmmpanther:PTHR14604																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	213310075	213310075	T	A	1	0	0	0	0	1	0	0	0	15309	1609	56	4		4	SPAG16	2	213310075	Missense_Mutation	SNP	T	C3N-02089_TP	3469425	213310075	28883454	184	28981											
VWC2L	0	.	GRCh38	chr2	214414377	214414377	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacagcggctttgtatacAagttgggagaacgatttttc	11	13	11	6	2	0	2	0	1	0	1	1	4	0	2	0	2	3	3	0	2	4	6	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.184A>T	p.Lys62Ter	p.K62*	ENST00000312504	2/4	304	283	21	313	313	0	strelka-varscan	VWC2L,stop_gained,p.Lys62Ter,ENST00000312504,NM_001080500.2;VWC2L,stop_gained,p.Lys62Ter,ENST00000427124,;SPAG16,downstream_gene_variant,,ENST00000331683,NM_024532.4;SPAG16,downstream_gene_variant,,ENST00000451561,;AC107218.3,intron_variant,,ENST00000437883,;AC107218.3,intron_variant,,ENST00000412896,;SPAG16,downstream_gene_variant,,ENST00000480494,;VWC2L,non_coding_transcript_exon_variant,,ENST00000477752,;SPAG16,downstream_gene_variant,,ENST00000406979,;	T	ENST00000312504	Transcript	stop_gained	986/4610	184/669	62/222	K/*	Aag/Tag		1		1	VWC2L	HGNC	HGNC:37203	protein_coding	YES	CCDS46509.1	ENSP00000308976	B2RUY7		UPI00004912C1	NM_001080500.2			2/4		SMART_domains:SM00214																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	90	214414377	214414377	A	T	1	0	0	0	0	0	1	0	0	17803	131	5	4		4	VWC2L	2	214414377	Nonsense_Mutation	SNP	A	C3N-02089_TP	1104302	214414377	27779152	185	28982											
WNT10A	0	.	GRCh38	chr2	218892841	218892841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctgccagctcaagaCgtgctggcaggtgacgcccg	8	5	15	13	3	1	2	1	1	0	1	1	2	1	2	2	3	4	5	2	3	1	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.824C>A	p.Thr275Lys	p.T275K	ENST00000258411	4/4	114	82	32	69	69	0	strelka-varscan	WNT10A,missense_variant,p.Thr275Lys,ENST00000258411,NM_025216.2;WNT10A,missense_variant,p.Asp111Glu,ENST00000458582,;WNT10A,downstream_gene_variant,,ENST00000483911,;WNT10A,upstream_gene_variant,,ENST00000489887,;	A	ENST00000258411	Transcript	missense_variant	1457/2547	824/1254	275/417	T/K	aCg/aAg		1		1	WNT10A	HGNC	HGNC:13829	protein_coding	YES	CCDS2426.1	ENSP00000258411	Q9GZT5		UPI0000032F2A	NM_025216.2	deleterious(0)		4/4		Pfam_domain:PF00110,Prints_domain:PR01349,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF89,SMART_domains:SM00097																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	218892841	218892841	C	A	1	0	0	0	0	1	0	0	0	17938	536	19	1		1	WNT10A	2	218892841	Missense_Mutation	SNP	C	C3N-02089_TP	4478464	218892841	23300688	186	28983											
PTPRN	0	.	GRCh38	chr2	219302338	219302338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgggcaggtgaaggccctgGaaggtccccgtaggagtggc	7	6	18	10	1	0	1	0	1	0	0	1	3	1	3	3	7	0	2	3	7	3	1			C3N-02089_TP	C3N-02089_NB	G	G																c.793C>G	p.Pro265Ala	p.P265A	ENST00000295718	6/23	288	255	33	304	304	0	strelka-varscan	PTPRN,missense_variant,p.Pro265Ala,ENST00000295718,NM_002846.3;PTPRN,missense_variant,p.Pro265Ala,ENST00000409251,NM_001199763.1;PTPRN,missense_variant,p.Pro175Ala,ENST00000423636,NM_001199764.1;PTPRN,downstream_gene_variant,,ENST00000446182,;PTPRN,downstream_gene_variant,,ENST00000440552,;PTPRN,downstream_gene_variant,,ENST00000412847,;PTPRN,downstream_gene_variant,,ENST00000442029,;PTPRN,downstream_gene_variant,,ENST00000451506,;AC114803.3,intron_variant,,ENST00000417355,;PTPRN,downstream_gene_variant,,ENST00000468454,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,downstream_gene_variant,,ENST00000606213,;PTPRN,downstream_gene_variant,,ENST00000476930,;PTPRN,upstream_gene_variant,,ENST00000489650,;PTPRN,upstream_gene_variant,,ENST00000486480,;	C	ENST00000295718	Transcript	missense_variant	1034/3784	793/2940	265/979	P/A	Cca/Gca	COSM3577963	1		-1	PTPRN	HGNC	HGNC:9676	protein_coding	YES	CCDS2440.1	ENSP00000295718	Q16849		UPI0000132999	NM_002846.3	tolerated(0.1)		6/23		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	90	219302338	219302338	G	C	1	0	0	0	0	1	0	0	0	12961	1174	41	4		4	PTPRN	2	219302338	Missense_Mutation	SNP	G	C3N-02089_TP	409497	219302338	22891191	187	28984											
SPEG	0	.	GRCh38	chr2	219489126	219489126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtgacccacctgccagttgGcgtgactgtgaggttccgtg	5	10	14	12	3	0	3	0	3	0	0	1	3	1	3	4	2	1	2	4	2	0	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.8222G>T	p.Gly2741Val	p.G2741V	ENST00000312358	35/41	286	218	68	330	330	0	strelka-varscan	SPEG,missense_variant,p.Gly2741Val,ENST00000312358,NM_005876.4;SPEG,upstream_gene_variant,,ENST00000412982,;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;	T	ENST00000312358	Transcript	missense_variant	8354/10782	8222/9804	2741/3267	G/V	gGc/gTc		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4	deleterious(0)		35/41		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF728,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	90	219489126	219489126	G	T	1	0	0	0	0	1	0	0	0	15387	1203	42	2		2	SPEG	2	219489126	Missense_Mutation	SNP	G	C3N-02089_TP	186788	219489126	22704403	188	28985											
AGFG1	0	.	GRCh38	chr2	227534855	227534855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgttcccaggtggtgatcaGggaagtggctttgggaccac	7	10	15	9	1	1	1	1	1	0	0	3	3	2	3	2	5	0	2	2	5	1	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1107G>T	p.Gln369His	p.Q369H	ENST00000409979	9/14	92	61	31	111	111	0	strelka-varscan-mutect	AGFG1,missense_variant,p.Gln345His,ENST00000310078,NM_004504.4;AGFG1,missense_variant,p.Gln369His,ENST00000409979,NM_001135187.1;AGFG1,missense_variant,p.Gln345His,ENST00000409171,NM_001135188.1;AGFG1,missense_variant,p.Gln305His,ENST00000373671,NM_001135189.1;AGFG1,intron_variant,,ENST00000409315,;AGFG1,downstream_gene_variant,,ENST00000456594,;AGFG1,upstream_gene_variant,,ENST00000458212,;	T	ENST00000409979	Transcript	missense_variant	1377/2089	1107/1755	369/584	Q/H	caG/caT		1		1	AGFG1	HGNC	HGNC:5175	protein_coding	YES	CCDS46533.1	ENSP00000387282	P52594		UPI0001814801	NM_001135187.1	deleterious_low_confidence(0.04)		9/14		hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF259,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	227534855	227534855	G	T	1	0	0	0	0	1	0	0	0	457	991	35	2		2	AGFG1	2	227534855	Missense_Mutation	SNP	G	C3N-02089_TP	8045729	227534855	14658674	189	28986											
COL6A3	0	.	GRCh38	chr2	237381429	237381429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagtctcggatggcattGaagttggccagtcccagtgc	9	10	13	9	1	1	2	0	2	1	0	3	3	2	3	2	3	1	2	2	3	2	2			C3N-02089_TP	C3N-02089_NB	G	G																c.1383C>A	p.Phe461Leu	p.F461L	ENST00000295550	5/44	119	109	10	163	163	0	strelka-varscan-mutect	COL6A3,missense_variant,p.Phe461Leu,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Phe255Leu,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Phe255Leu,ENST00000409809,;COL6A3,missense_variant,p.Phe54Leu,ENST00000472056,NM_057166.4;COL6A3,missense_variant,p.Phe54Leu,ENST00000347401,;COL6A3,missense_variant,p.Phe255Leu,ENST00000392004,NM_057165.4;COL6A3,missense_variant,p.Phe54Leu,ENST00000392003,NM_057164.4;COL6A3,missense_variant,p.Phe461Leu,ENST00000433762,;	T	ENST00000295550	Transcript	missense_variant	1836/10749	1383/9534	461/3177	F/L	ttC/ttA	COSM3579677,COSM3579678,COSM5639491,COSM5639492	1		-1	COL6A3	HGNC	HGNC:2213	protein_coding	YES	CCDS33412.1	ENSP00000295550	P12111	D9ZGF2	UPI0000456F39	NM_004369.3	deleterious(0.03)		5/44		PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												T	3	4	90	237381429	237381429	G	T	1	0	0	0	0	1	0	0	0	3490	1281	45	2		2	COL6A3	2	237381429	Missense_Mutation	SNP	G	C3N-02089_TP	9846574	237381429	4812100	190	28987											
FGD5	0	.	GRCh38	chr3	14900431	14900431	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaacctttgtccggactcCgccgagtacgacaacacaca	13	6	7	15	4	0	0	0	0	0	0	2	3	2	1	4	1	4	1	4	1	4	2	rs546298225		C3N-02089_TP	C3N-02089_NB	C	C																c.3183C>T	p.=	p.S1061S	ENST00000285046	8/20	260	164	96	288	287	1	strelka-varscan-mutect	FGD5,synonymous_variant,p.=,ENST00000543601,NM_001320276.1;FGD5,synonymous_variant,p.=,ENST00000285046,NM_152536.3;FGD5,synonymous_variant,p.=,ENST00000457774,;FGD5,non_coding_transcript_exon_variant,,ENST00000476851,;FGD5,non_coding_transcript_exon_variant,,ENST00000468662,;	T	ENST00000285046	Transcript	synonymous_variant	3293/5720	3183/4389	1061/1462	S	tcC/tcT	rs546298225,COSM728774,COSM728775	1		1	FGD5	HGNC	HGNC:19117	protein_coding	YES	CCDS46767.1	ENSP00000285046	Q6ZNL6		UPI00002372AE	NM_152536.3			8/20		PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs546298225	.												T	2	4	90	14900431	14900431	C	T	1	0	0	0	0	0	0	0	1	5700	639	23	1		1	FGD5	3	14900431	Silent	SNP	C	C3N-02089_TP		14900431	183395128	191	28988											
EOMES	0	.	GRCh38	chr3	27717651	27717651	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtctgtggcacggttcTctcgccattataatagcggg	6	13	13	9	3	2	0	0	0	2	0	4	0	2	0	1	4	1	3	1	4	3	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1537A>G	p.Arg513Gly	p.R513G	ENST00000449599	6/6	193	143	50	197	197	0	strelka-varscan-mutect	EOMES,missense_variant,p.Arg494Gly,ENST00000295743,NM_005442.3;EOMES,missense_variant,p.Arg513Gly,ENST00000449599,NM_001278182.1;EOMES,missense_variant,p.Arg218Gly,ENST00000461503,NM_001278183.1;RP11-222K16.2,downstream_gene_variant,,ENST00000606069,;	C	ENST00000449599	Transcript	missense_variant	1555/2829	1537/2118	513/705	R/G	Aga/Gga		1		-1	EOMES	HGNC	HGNC:3372	protein_coding	YES	CCDS63585.1	ENSP00000388620	O95936		UPI00004DEF82	NM_001278182.1	deleterious(0.03)		6/6		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF13,Pfam_domain:PF16176																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	27717651	27717651	T	C	1	0	0	0	0	1	0	0	0	4993	1559	54	5		5	EOMES	3	27717651	Missense_Mutation	SNP	T	C3N-02089_TP	12817220	27717651	170577908	192	28989											
KLHL40	0	.	GRCh38	chr3	42686752	42686752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaacaaagaggaccccatGagcgcatacttcctgcaggt	13	6	10	12	1	0	2	0	1	0	1	1	4	1	3	3	2	4	2	3	2	3	2	rs371753773		C3N-02089_TP	C3N-02089_NB	G	G																c.1134G>T	p.Met378Ile	p.M378I	ENST00000287777	1/6	77	50	27	83	83	0	strelka-varscan-mutect	KLHL40,missense_variant,p.Met378Ile,ENST00000287777,NM_152393.3;	T	ENST00000287777	Transcript	missense_variant	1234/2517	1134/1866	378/621	M/I	atG/atT	rs371753773	1		1	KLHL40	HGNC	HGNC:30372	protein_coding	YES	CCDS2703.1	ENSP00000287777	Q2TBA0		UPI000000D866	NM_152393.3	tolerated(0.06)		1/6		Superfamily_domains:0052715,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF22,SMART_domains:SM00612																	MODERATE	1	SNV	1			1										PASS		rs371753773	.												T	3	4	90	42686752	42686752	G	T	1	0	0	0	0	1	0	0	0	8258	1290	45	2		2	KLHL40	3	42686752	Missense_Mutation	SNP	G	C3N-02089_TP	14969101	42686752	155608807	193	28990											
EXOSC7	0	.	GRCh38	chr3	45007530	45007530	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgtgcatgaggaaagtGgggaagggcagcctggaccc	10	5	18	8	1	0	2	0	2	0	0	0	5	0	5	2	5	2	2	2	5	2	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.726G>T	p.=	p.V242V	ENST00000265564	7/8	132	82	50	115	114	1	strelka-varscan-mutect	EXOSC7,synonymous_variant,p.=,ENST00000265564,NM_015004.3;EXOSC7,non_coding_transcript_exon_variant,,ENST00000461361,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000491476,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000468667,;EXOSC7,intron_variant,,ENST00000481405,;CLEC3B,intron_variant,,ENST00000490386,;EXOSC7,downstream_gene_variant,,ENST00000482004,;EXOSC7,upstream_gene_variant,,ENST00000459856,;EXOSC7,non_coding_transcript_exon_variant,,ENST00000486727,;	T	ENST00000265564	Transcript	synonymous_variant	774/1055	726/876	242/291	V	gtG/gtT		1		1	EXOSC7	HGNC	HGNC:28112	protein_coding	YES	CCDS2725.1	ENSP00000265564	Q15024	A0A024R2P7	UPI000020A5E9	NM_015004.3			7/8		Pfam_domain:PF03725,hmmpanther:PTHR11097,hmmpanther:PTHR11097:SF8,Superfamily_domains:SSF55666																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	45007530	45007530	G	T	1	0	0	0	0	0	0	0	1	5187	1335	47	2		2	EXOSC7	3	45007530	Silent	SNP	G	C3N-02089_TP	2320778	45007530	153288029	194	28991											
MYL3	0	.	GRCh38	chr3	46858462	46858462	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctgtcagcctctcacCtggcaggagtgggaggctga	6	10	14	11	0	4	1	2	1	3	0	5	3	4	3	2	4	1	2	2	4	0	1	rs727503300		C3N-02089_TP	C3N-02089_NB	C	C																c.482-1G>T		p.X161_splice	ENST00000395869		252	194	58	307	306	1	strelka-varscan-mutect	MYL3,splice_acceptor_variant,,ENST00000395869,;MYL3,splice_acceptor_variant,,ENST00000292327,NM_000258.2;MYL3,downstream_gene_variant,,ENST00000431168,;	A	ENST00000395869	Transcript	splice_acceptor_variant	-/1012	482/588	161/195			rs727503300	1		-1	MYL3	HGNC	HGNC:7584	protein_coding	YES	CCDS2746.1	ENSP00000379210	P08590	A0A024R2Q5	UPI0000000CA2					4/5											uncertain_significance							HIGH	1	SNV	1		1	1										PASS		rs727503300	.												A	5	1	90	46858462	46858462	C	A	1	0	0	0	0	0	0	1	0	10048	695	24	2		2	MYL3	3	46858462	Splice_Site	SNP	C	C3N-02089_TP	1850932	46858462	151437097	195	28992											
PLXNB1	0	.	GRCh38	chr3	48423692	48423692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagccgccgatgggggcCggcccacagtggggggtgca	6	3	19	13	3	0	0	0	0	0	0	0	1	0	0	4	6	3	2	4	6	0	0	rs201285818		C3N-02089_TP	C3N-02089_NB	C	C																c.920G>T	p.Arg307Leu	p.R307L	ENST00000358536	3/38	217	156	61	204	204	0	strelka-varscan-mutect	PLXNB1,missense_variant,p.Arg307Leu,ENST00000358536,NM_002673.5;PLXNB1,missense_variant,p.Arg307Leu,ENST00000296440,NM_001130082.2;PLXNB1,missense_variant,p.Arg307Leu,ENST00000456774,;PLXNB1,intron_variant,,ENST00000466353,;PLXNB1,upstream_gene_variant,,ENST00000484485,;PLXNB1,upstream_gene_variant,,ENST00000473683,;PLXNB1,missense_variant,p.Arg307Leu,ENST00000449094,;PLXNB1,upstream_gene_variant,,ENST00000462738,;	A	ENST00000358536	Transcript	missense_variant	1190/7308	920/6408	307/2135	R/L	cGg/cTg	rs201285818,COSM5191086	1		-1	PLXNB1	HGNC	HGNC:9103	protein_coding	YES	CCDS2765.1	ENSP00000351338	O43157		UPI0000038131	NM_002673.5	tolerated(0.29)		3/38		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF36,SMART_domains:SM00630,Superfamily_domains:SSF101912											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201285818	.												A	3	1	90	48423692	48423692	C	A	1	0	0	0	0	1	0	0	0	12229	652	23	1		1	PLXNB1	3	48423692	Missense_Mutation	SNP	C	C3N-02089_TP	1565230	48423692	149871867	196	28993											
CELSR3	0	.	GRCh38	chr3	48656341	48656341	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcacgcagcggccggccTcggtgtccagctcgcagtcc	4	5	14	18	6	0	0	0	0	0	0	4	0	2	0	5	4	2	4	5	4	0	0	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.4424A>T	p.Glu1475Val	p.E1475V	ENST00000164024	3/35	83	74	9	115	115	0	strelka-varscan-mutect	CELSR3,missense_variant,p.Glu1475Val,ENST00000164024,NM_001407.2;	A	ENST00000164024	Transcript	missense_variant	4705/11956	4424/9939	1475/3312	E/V	gAg/gTg		1		-1	CELSR3	HGNC	HGNC:3230	protein_coding	YES	CCDS2775.1	ENSP00000164024	Q9NYQ7		UPI00001AE5A6	NM_001407.2	deleterious(0.01)		3/35		Gene3D:2gy5A03,PROSITE_profiles:PS50026,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		rs1459005234	.												A	3	1	90	48656341	48656341	T	A	1	0	0	0	0	1	0	0	0	2930	1551	54	4		4	CELSR3	3	48656341	Missense_Mutation	SNP	T	C3N-02089_TP	232649	48656341	149639218	197	28994											
DOCK3	0	.	GRCh38	chr3	50778683	50778683	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttttctagtgatatgcAgctttcgaggatctgtccct	6	17	9	9	1	2	1	0	1	2	0	4	3	3	2	1	1	3	3	1	1	2	6	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.46A>T	p.Ser16Cys	p.S16C	ENST00000266037	2/53	110	79	31	128	128	0	strelka-varscan-mutect	DOCK3,missense_variant,p.Ser16Cys,ENST00000266037,NM_004947.4;	T	ENST00000266037	Transcript	missense_variant	69/8755	46/6093	16/2030	S/C	Agc/Tgc		1		1	DOCK3	HGNC	HGNC:2989	protein_coding	YES	CCDS46835.1	ENSP00000266037	Q8IZD9		UPI000007412C	NM_004947.4	deleterious(0)		2/53		PROSITE_profiles:PS50002,hmmpanther:PTHR23317:SF66,hmmpanther:PTHR23317,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	50778683	50778683	A	T	1	0	0	0	0	1	0	0	0	4503	188	7	4		4	DOCK3	3	50778683	Missense_Mutation	SNP	A	C3N-02089_TP	2122342	50778683	147516876	198	28995											
DOCK3	0	.	GRCh38	chr3	51375822	51375822	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgatcccaatctgtcTgtggctgaaaaaggtattgt	10	13	11	7	0	2	2	0	2	2	0	3	2	3	2	1	2	1	3	1	2	4	2	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.5487T>A	p.=	p.S1829S	ENST00000266037	51/53	182	133	49	186	186	0	strelka-varscan-mutect	DOCK3,synonymous_variant,p.=,ENST00000266037,NM_004947.4;	A	ENST00000266037	Transcript	synonymous_variant	5510/8755	5487/6093	1829/2030	S	tcT/tcA		1		1	DOCK3	HGNC	HGNC:2989	protein_coding	YES	CCDS46835.1	ENSP00000266037	Q8IZD9		UPI000007412C	NM_004947.4			51/53																			LOW	1	SNV	1			1										PASS		rs1336549935	.												A	2	1	90	51375822	51375822	T	A	1	0	0	0	0	0	0	0	1	4503	1567	55	4		4	DOCK3	3	51375822	Silent	SNP	T	C3N-02089_TP	597139	51375822	146919737	199	28996											
CACNA1D	0	.	GRCh38	chr3	53800341	53800343	+	In_Frame_Del	DEL	AGA	AGA	-																															gagcctgaggaaacaaaacgAgaagaagaagatgatgtgtt																								rs778776240		C3N-02089_TP	C3N-02089_NB	AGA	AGA																c.5085_5087delAGA	p.Glu1695del	p.E1695del	ENST00000288139	42/49	356	243	113	331	331	0	sindel-varindel	CACNA1D,inframe_deletion,p.Glu1695del,ENST00000288139,NM_000720.3;CACNA1D,inframe_deletion,p.Glu1675del,ENST00000350061,NM_001128840.2;CACNA1D,inframe_deletion,p.Glu1684del,ENST00000637424,;CACNA1D,inframe_deletion,p.Glu1660del,ENST00000636570,;CACNA1D,inframe_deletion,p.Glu1660del,ENST00000422281,NM_001128839.2;CACNA1D,inframe_deletion,p.Glu1368del,ENST00000481478,;RP11-884K10.6,upstream_gene_variant,,ENST00000607740,;CACNA1D,non_coding_transcript_exon_variant,,ENST00000636629,;CACNA1D,inframe_deletion,p.Glu434del,ENST00000636448,;CACNA1D,non_coding_transcript_exon_variant,,ENST00000636633,;CACNA1D,non_coding_transcript_exon_variant,,ENST00000636999,;CACNA1D,non_coding_transcript_exon_variant,,ENST00000637589,;CACNA1D,upstream_gene_variant,,ENST00000637844,;	-	ENST00000288139	Transcript	inframe_deletion	5544-5546/9341	5076-5078/6546	1692-1693/2181	RE/R	cgAGAa/cga	rs778776240,COSM4584563,COSM4584564	1		1	CACNA1D	HGNC	HGNC:1391	protein_coding	YES	CCDS2872.1	ENSP00000288139	Q01668		UPI000005031A	NM_000720.3			42/49		Pfam_domain:PF16885,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF139,Low_complexity_(Seg):seg											0,1,1						MODERATE	1	deletion	1	9	0,1,1	1										PASS		.	.												-	7	5	90	53800341	53800341	AGA	-	1	0	1	0	1	0	0	0	0	2229	291	11	0		0	CACNA1D	3	53800341	In_Frame_Del	DEL	AGA	C3N-02089_TP	2424519	53800341	144495218	200	28997											
DNAH12	0	.	GRCh38	chr3	57404990	57404990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaatgacaagattcattCttgttttgtgtgtttgatta	12	19	7	3	0	2	3	1	2	1	1	2	3	2	3	0	0	0	2	0	0	5	8			C3N-02089_TP	C3N-02089_NB	C	C																c.6734G>T	p.Arg2245Ile	p.R2245I	ENST00000495027	42/74	79	65	14	96	96	0	strelka-varscan-mutect	DNAH12,missense_variant,p.Arg2245Ile,ENST00000495027,NM_001291661.1;DNAH12,missense_variant,p.Arg2226Ile,ENST00000351747,;	A	ENST00000495027	Transcript	missense_variant	6915/12146	6734/11883	2245/3960	R/I	aGa/aTa	COSM3427798	1		-1	DNAH12	HGNC	HGNC:2943	protein_coding			ENSP00000418137		E9PG32	UPI0004620994	NM_001291661.1	deleterious(0)		42/74		Gene3D:3.40.50.300,Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF255,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	90	57404990	57404990	C	A	1	0	0	0	0	1	0	0	0	4414	913	32	2		2	DNAH12	3	57404990	Missense_Mutation	SNP	C	C3N-02089_TP	3604649	57404990	140890569	201	28998											
DNAH12	0	.	GRCh38	chr3	57458196	57458196	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagtttttccaataaacCtgttaaagaagtggcagcaa	14	12	8	7	0	0	1	0	0	0	1	1	1	1	1	2	1	2	5	2	1	8	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2956G>C	p.Gly986Arg	p.G986R	ENST00000495027	21/74	96	78	18	120	120	0	strelka-varscan-mutect	DNAH12,missense_variant,p.Gly986Arg,ENST00000495027,NM_001291661.1;DNAH12,missense_variant,p.Gly963Arg,ENST00000351747,;	G	ENST00000495027	Transcript	missense_variant	3137/12146	2956/11883	986/3960	G/R	Ggt/Cgt		1		-1	DNAH12	HGNC	HGNC:2943	protein_coding			ENSP00000418137		E9PG32	UPI0004620994	NM_001291661.1	tolerated(0.58)		21/74		Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF255																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	90	57458196	57458196	C	G	1	0	0	0	0	1	0	0	0	4414	681	24	4		4	DNAH12	3	57458196	Missense_Mutation	SNP	C	C3N-02089_TP	53206	57458196	140837363	202	28999											
PRICKLE2	0	.	GRCh38	chr3	64099440	64099440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcctccctggctctcagagGgggcctatcttttaaccggg	5	11	12	13	1	2	1	1	0	2	1	5	1	4	1	4	4	1	1	4	4	2	3	rs748959217		C3N-02089_TP	C3N-02089_NB	G	G																c.2146C>A	p.Pro716Thr	p.P716T	ENST00000295902	8/8	41	29	12	52	52	0	strelka-varscan-mutect	PRICKLE2,missense_variant,p.Pro716Thr,ENST00000295902,NM_198859.3;PRICKLE2,missense_variant,p.Pro772Thr,ENST00000564377,;PRICKLE2-AS1,non_coding_transcript_exon_variant,,ENST00000482609,;PRICKLE2-AS1,non_coding_transcript_exon_variant,,ENST00000476308,;PRICKLE2-AS2,upstream_gene_variant,,ENST00000484703,;PRICKLE2-AS1,upstream_gene_variant,,ENST00000460946,;	T	ENST00000295902	Transcript	missense_variant	2732/8305	2146/2535	716/844	P/T	Cct/Act	rs748959217	1		-1	PRICKLE2	HGNC	HGNC:20340	protein_coding	YES	CCDS2902.1	ENSP00000295902	Q7Z3G6	A0A024R368	UPI0000160A8B	NM_198859.3	tolerated(0.39)		8/8		hmmpanther:PTHR24211:SF18,hmmpanther:PTHR24211																	MODERATE	1	SNV	1			1										PASS		rs748959217	.												T	3	4	90	64099440	64099440	G	T	1	0	0	0	0	1	0	0	0	12619	1232	43	2		2	PRICKLE2	3	64099440	Missense_Mutation	SNP	G	C3N-02089_TP	6641244	64099440	134196119	203	29000											
FRMD4B	0	.	GRCh38	chr3	69218327	69218327	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaaattacttacctttaCtgcataataatggacaccgt	14	14	5	8	1	0	0	0	0	0	0	0	1	0	1	2	1	4	2	2	1	7	7	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.784G>C	p.Val262Leu	p.V262L	ENST00000398540	10/23	170	126	44	189	189	0	strelka-varscan-mutect	FRMD4B,missense_variant,p.Val262Leu,ENST00000398540,NM_015123.2;FRMD4B,missense_variant,p.Val153Leu,ENST00000493880,;FRMD4B,non_coding_transcript_exon_variant,,ENST00000470070,;FRMD4B,non_coding_transcript_exon_variant,,ENST00000483668,;FRMD4B,non_coding_transcript_exon_variant,,ENST00000487751,;	G	ENST00000398540	Transcript	missense_variant	868/5060	784/3105	262/1034	V/L	Gta/Cta		1		-1	FRMD4B	HGNC	HGNC:24886	protein_coding	YES	CCDS46863.1	ENSP00000381549	Q9Y2L6		UPI00001C1DF1	NM_015123.2	deleterious(0.01)		10/23		PROSITE_profiles:PS50057,hmmpanther:PTHR23281:SF16,hmmpanther:PTHR23281,Gene3D:2.30.29.30,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	69218327	69218327	C	G	1	0	0	0	0	1	0	0	0	5922	579	20	4		4	FRMD4B	3	69218327	Missense_Mutation	SNP	C	C3N-02089_TP	5118887	69218327	129077232	204	29001											
EPHA6	0	.	GRCh38	chr3	96987691	96987691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactgaaattcgtgaggtggGgcctatagaaaggaaaggat	14	8	14	5	1	0	3	0	2	0	1	1	5	0	5	1	5	0	0	1	5	5	3			C3N-02089_TP	C3N-02089_NB	G	G																c.812G>A	p.Gly271Glu	p.G271E	ENST00000389672	3/18	44	36	8	71	71	0	strelka-varscan-mutect	EPHA6,missense_variant,p.Gly271Glu,ENST00000389672,NM_001080448.2;EPHA6,missense_variant,p.Gly271Glu,ENST00000470610,;EPHA6,missense_variant,p.Gly216Glu,ENST00000506569,NM_001278301.1;	A	ENST00000389672	Transcript	missense_variant	850/3971	812/3393	271/1130	G/E	gGg/gAg	COSM5608437,COSM5608438,COSM5608439	1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2	deleterious(0.01)		3/18		Gene3D:2.60.120.260,Pfam_domain:PF01404,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,SMART_domains:SM00615,Superfamily_domains:SSF49785											1,1,1						MODERATE	1	SNV	2		1,1,1	1										PASS		.	.												A	3	1	90	96987691	96987691	G	A	1	0	0	0	0	1	0	0	0	5018	1232	43	3		3	EPHA6	3	96987691	Missense_Mutation	SNP	G	C3N-02089_TP	27769364	96987691	101307868	205	29002											
BOC	0	.	GRCh38	chr3	113268446	113268446	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggctggaggcctccagagGtgagtgggcaggagcccaga	8	5	19	9	0	0	3	0	1	0	2	1	5	1	5	3	6	1	2	3	6	0	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.523+1G>T		p.X175_splice	ENST00000273395		127	117	10	120	120	0	strelka-varscan-mutect	BOC,splice_donor_variant,,ENST00000495514,NM_033254.3;BOC,splice_donor_variant,,ENST00000355385,;BOC,splice_donor_variant,,ENST00000273395,NM_001301861.1;BOC,downstream_gene_variant,,ENST00000498710,;BOC,splice_donor_variant,,ENST00000477178,;BOC,splice_donor_variant,,ENST00000471963,;BOC,upstream_gene_variant,,ENST00000466059,;BOC,upstream_gene_variant,,ENST00000479182,;	T	ENST00000273395	Transcript	splice_donor_variant	-/4276	523/3348	175/1115				1		1	BOC	HGNC	HGNC:17173	protein_coding	YES	CCDS77788.1	ENSP00000273395	Q9BWV1		UPI0000D61B53	NM_001301861.1				5/19																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	90	113268446	113268446	G	T	1	0	0	0	0	0	0	1	0	1637	1275	44	2		2	BOC	3	113268446	Splice_Site	SNP	G	C3N-02089_TP	16280755	113268446	85027113	206	29003											
CD80	0	.	GRCh38	chr3	119527829	119527829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctccttctctctctgcatCttggggcaaagccttggaga	6	13	9	13	0	3	1	0	0	3	1	7	2	5	1	3	3	2	2	3	3	1	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.809G>A	p.Arg270Lys	p.R270K	ENST00000264246	6/7	208	165	43	191	191	0	strelka-varscan-mutect	CD80,missense_variant,p.Arg270Lys,ENST00000264246,NM_005191.3;CD80,missense_variant,p.Arg270Lys,ENST00000478182,;CD80,missense_variant,p.Arg238Lys,ENST00000383669,;TIMMDC1,downstream_gene_variant,,ENST00000494664,NM_016589.3;TIMMDC1,downstream_gene_variant,,ENST00000493694,;TIMMDC1,downstream_gene_variant,,ENST00000264244,;TIMMDC1,downstream_gene_variant,,ENST00000492164,;TIMMDC1,downstream_gene_variant,,ENST00000498399,;TIMMDC1,downstream_gene_variant,,ENST00000463927,;	T	ENST00000264246	Transcript	missense_variant	1172/2725	809/867	270/288	R/K	aGa/aAa		1		-1	CD80	HGNC	HGNC:1700	protein_coding	YES	CCDS2989.1	ENSP00000264246	P33681	A0N0P2	UPI000000D9F5	NM_005191.3	tolerated(0.57)		6/7		hmmpanther:PTHR25466,hmmpanther:PTHR25466:SF4,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	119527829	119527829	C	T	1	0	0	0	0	1	0	0	0	2742	913	32	3		3	CD80	3	119527829	Missense_Mutation	SNP	C	C3N-02089_TP	6259383	119527829	78767730	207	29004											
ADCY5	0	.	GRCh38	chr3	123448368	123448368	+	Frame_Shift_Del	DEL	C	C	-																															ctgctgctgcggggtcaccgCccccccgggtttcttggtgg																								rs777800886		C3N-02089_TP	C3N-02089_NB	C	C																c.178delG	p.Ala60ArgfsTer2	p.A60Rfs*2	ENST00000462833	1/21	78	73	5	65	65	0	varindel-pindel	ADCY5,frameshift_variant,p.Ala60ArgfsTer2,ENST00000462833,NM_183357.2;	-	ENST00000462833	Transcript	frameshift_variant	1391/7311	178/3786	60/1261	A/X	Gcg/cg	rs777800886,COSM3057110	1		-1	ADCY5	HGNC	HGNC:236	protein_coding	YES	CCDS3022.1	ENSP00000419361	O95622		UPI000015E262	NM_183357.2			1/21		Pfam_domain:PF16214											0,1						HIGH	1	deletion	1		0,1	1										PASS		.	.												-	7	5	90	123448368	123448368	C	-	1	0	1	0	1	0	0	0	0	341	739	26	0		0	ADCY5	3	123448368	Frame_Shift_Del	DEL	C	C3N-02089_TP	3920539	123448368	74847191	208	29005											
KALRN	0	.	GRCh38	chr3	124234918	124234918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagacctgcggaaactcGtgacgtatttggccagcgtg	10	8	14	9	4	0	2	0	1	0	1	1	4	0	4	2	3	3	1	2	3	3	2	rs777198177		C3N-02089_TP	C3N-02089_NB	G	G																c.232G>T	p.Val78Leu	p.V78L	ENST00000240874	3/34	202	163	39	207	207	0	strelka-varscan-mutect	KALRN,missense_variant,p.Val78Leu,ENST00000360013,NM_001024660.3;KALRN,missense_variant,p.Val56Leu,ENST00000354186,;KALRN,missense_variant,p.Val78Leu,ENST00000240874,NM_003947.4;KALRN,missense_variant,p.Val78Leu,ENST00000460856,NM_001322989.1;KALRN,missense_variant,p.Val106Leu,ENST00000448253,;	T	ENST00000240874	Transcript	missense_variant	389/6537	232/4992	78/1663	V/L	Gtg/Ttg	rs777198177	1		1	KALRN	HGNC	HGNC:4814	protein_coding	YES	CCDS3027.1	ENSP00000240874	O60229		UPI000012C095	NM_003947.4	tolerated(0.93)		3/34		Gene3D:3.40.525.10,Pfam_domain:PF00650,PROSITE_profiles:PS50191,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,SMART_domains:SM00516,Superfamily_domains:SSF52087																	MODERATE	1	SNV	1			1										PASS		rs777198177	.												T	3	4	90	124234918	124234918	G	T	1	0	0	0	0	1	0	0	0	7884	1145	40	1		1	KALRN	3	124234918	Missense_Mutation	SNP	G	C3N-02089_TP	786550	124234918	74060641	209	29006											
UROC1	0	.	GRCh38	chr3	126504014	126504014	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcctctggatgcagcGgtccaagctgtcagtcactt	7	10	11	13	1	3	1	2	1	1	0	4	2	4	2	3	2	4	2	3	2	1	1	rs372290750		C3N-02089_TP	C3N-02089_NB	G	G																c.883C>G	p.Arg295Gly	p.R295G	ENST00000383579	9/21	483	439	44	409	409	0	strelka-varscan-mutect	UROC1,missense_variant,p.Arg295Gly,ENST00000290868,NM_144639.2;UROC1,missense_variant,p.Arg295Gly,ENST00000383579,NM_001165974.1;	C	ENST00000383579	Transcript	missense_variant	917/2735	883/2211	295/736	R/G	Cgc/Ggc	rs372290750,COSM1037768,COSM1593292	1		-1	UROC1	HGNC	HGNC:26444	protein_coding	YES	CCDS54636.1	ENSP00000373073	Q96N76		UPI0000480109	NM_001165974.1	tolerated(0.23)		9/21		HAMAP:MF_00577,Pfam_domain:PF01175,hmmpanther:PTHR12216,hmmpanther:PTHR12216:SF3,Superfamily_domains:SSF111326											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs372290750	.												C	3	2	90	126504014	126504014	G	C	1	0	0	0	0	1	0	0	0	17560	1116	39	4		4	UROC1	3	126504014	Missense_Mutation	SNP	G	C3N-02089_TP	2269096	126504014	71791545	210	29007											
TXNRD3	0	.	GRCh38	chr3	126630888	126630888	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggcaacataagaggcacCcaccactaatgttttgccag	13	7	9	12	0	0	1	0	0	0	1	0	1	0	1	3	2	2	3	3	2	3	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1021G>T	p.Gly341Cys	p.G341C	ENST00000524230	9/16	287	216	71	299	299	0	strelka-varscan-mutect	TXNRD3,missense_variant,p.Gly341Cys,ENST00000524230,NM_052883.1;TXNRD3,missense_variant,p.Gly341Cys,ENST00000523403,NM_001173513.1;RP11-390G14.1,downstream_gene_variant,,ENST00000505008,;	A	ENST00000524230	Transcript	missense_variant	1186/2950	1021/1932	341/643	G/C	Ggt/Tgt		1		-1	TXNRD3	HGNC	HGNC:20667	protein_coding	YES	CCDS77811.1	ENSP00000430031		H0YBQ0	UPI0004F236D1	NM_052883.1	deleterious(0)		9/16		hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF108,TIGRFAM_domain:TIGR01438,Gene3D:3.50.50.60,Pfam_domain:PF07992,Superfamily_domains:SSF51905,Prints_domain:PR00368,Prints_domain:PR00411																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	126630888	126630888	C	A	1	0	0	0	0	1	0	0	0	17323	623	22	2		2	TXNRD3	3	126630888	Missense_Mutation	SNP	C	C3N-02089_TP	126874	126630888	71664671	211	29008											
COL6A6	0	.	GRCh38	chr3	130563119	130563119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacagctctgatcgcctggGatccaagtccttcccatttg	7	11	10	13	1	1	1	0	1	1	0	5	3	4	3	4	2	1	1	4	2	1	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.116G>T	p.Gly39Val	p.G39V	ENST00000358511	2/36	61	41	20	94	94	0	strelka-varscan-mutect	COL6A6,missense_variant,p.Gly39Val,ENST00000358511,NM_001102608.1;	T	ENST00000358511	Transcript	missense_variant	147/9581	116/6792	39/2263	G/V	gGa/gTa		1		1	COL6A6	HGNC	HGNC:27023	protein_coding	YES	CCDS46911.1	ENSP00000351310	A6NMZ7		UPI00015B6548	NM_001102608.1	deleterious(0)		2/36		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF61,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		rs1476025643	.												T	3	4	90	130563119	130563119	G	T	1	0	0	0	0	1	0	0	0	3492	1174	41	2		2	COL6A6	3	130563119	Missense_Mutation	SNP	G	C3N-02089_TP	3932231	130563119	67732440	212	29009											
TF	0	.	GRCh38	chr3	133777100	133777100	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaacttttgtttgttcCggtcggaaaccaaggacctt	8	12	11	10	3	0	0	0	0	0	0	2	2	1	2	3	4	2	3	3	4	3	5	rs778832620		C3N-02089_TP	C3N-02089_NB	C	C																c.1924C>A	p.=	p.R642R	ENST00000402696	16/17	287	270	17	322	321	1	strelka-varscan-mutect	TF,synonymous_variant,p.=,ENST00000402696,NM_001063.3;TF,3_prime_UTR_variant,,ENST00000461695,;TF,non_coding_transcript_exon_variant,,ENST00000467842,;	A	ENST00000402696	Transcript	synonymous_variant	2409/2968	1924/2097	642/698	R	Cgg/Agg	rs778832620,COSM1616949	1		1	TF	HGNC	HGNC:11740	protein_coding	YES	CCDS3080.1	ENSP00000385834	P02787		UPI000013D5A6	NM_001063.3			16/17		Gene3D:3.40.190.10,Pfam_domain:PF00405,PIRSF_domain:PIRSF002549,PIRSF_domain:PIRSF500682,PROSITE_profiles:PS51408,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF31,SMART_domains:SM00094,Superfamily_domains:SSF53850											0,1						LOW	1	SNV	1		0,1	1										PASS		rs778832620	.												A	2	1	90	133777100	133777100	C	A	1	0	0	0	0	0	0	0	1	16218	643	23	1		1	TF	3	133777100	Silent	SNP	C	C3N-02089_TP	3213981	133777100	64518459	213	29010											
EPHB1	0	.	GRCh38	chr3	135154264	135154264	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcctggactatgagatccgGtactatgagaaggtgagcca	12	9	12	8	1	0	3	0	3	0	2	2	6	2	4	3	3	2	1	3	3	4	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1410G>T	p.=	p.R470R	ENST00000398015	6/16	125	89	36	112	112	0	strelka-varscan-mutect	EPHB1,synonymous_variant,p.=,ENST00000398015,NM_004441.4;EPHB1,synonymous_variant,p.=,ENST00000493838,;EPHB1,non_coding_transcript_exon_variant,,ENST00000488992,;	T	ENST00000398015	Transcript	synonymous_variant	1780/4672	1410/2955	470/984	R	cgG/cgT		1		1	EPHB1	HGNC	HGNC:3392	protein_coding	YES	CCDS46921.1	ENSP00000381097	P54762		UPI000012A07E	NM_004441.4			6/16		Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,Prints_domain:PR00014,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		rs1357014273	.												T	2	4	90	135154264	135154264	G	T	1	0	0	0	0	0	0	0	1	5021	1248	44	2		2	EPHB1	3	135154264	Silent	SNP	G	C3N-02089_TP	1377164	135154264	63141295	214	29011											
PRR23A	0	.	GRCh38	chr3	139006109	139006109	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggaggtgagcgcgcccaCggccggggtacccgccgggt	5	5	18	13	6	0	1	0	1	0	0	0	2	0	2	4	6	2	1	4	6	2	2			C3N-02089_TP	C3N-02089_NB	C	C																c.160G>C	p.Val54Leu	p.V54L	ENST00000383163	1/1	108	77	31	109	109	0	strelka-varscan-mutect	PRR23A,missense_variant,p.Val54Leu,ENST00000383163,NM_001134659.1;MRPS22,intron_variant,,ENST00000495075,;	G	ENST00000383163	Transcript	missense_variant	160/801	160/801	54/266	V/L	Gtg/Ctg	COSM5498865	1		-1	PRR23A	HGNC	HGNC:37172	protein_coding	YES	CCDS46923.1	ENSP00000372649	A6NEV1		UPI00003671C1	NM_001134659.1	deleterious(0.01)		1/1		hmmpanther:PTHR31813:SF7,hmmpanther:PTHR31813,Pfam_domain:PF10630											1						MODERATE		SNV			1	1										PASS		rs1207883412	.												G	3	3	90	139006109	139006109	C	G	1	0	0	0	0	1	0	0	0	12729	536	19	4		4	PRR23A	3	139006109	Missense_Mutation	SNP	C	C3N-02089_TP	3851845	139006109	59289450	215	29012											
CLSTN2	0	.	GRCh38	chr3	140566217	140566217	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaatggagccaggcaagcCcagctggagtgggatgactc	11	5	15	10	0	0	2	0	1	0	1	1	5	0	5	2	4	3	2	2	4	2	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2832C>A	p.=	p.A944A	ENST00000458420	17/17	267	231	36	221	221	0	strelka-varscan-mutect	CLSTN2,synonymous_variant,p.=,ENST00000458420,NM_022131.2;	A	ENST00000458420	Transcript	synonymous_variant	3022/14202	2832/2868	944/955	A	gcC/gcA		1		1	CLSTN2	HGNC	HGNC:17448	protein_coding	YES	CCDS3112.1	ENSP00000402460	Q9H4D0		UPI00001B0051	NM_022131.2			17/17		hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	140566217	140566217	C	A	1	0	0	0	0	0	0	0	1	3334	610	22	2		2	CLSTN2	3	140566217	Silent	SNP	C	C3N-02089_TP	1560108	140566217	57729342	216	29013											
RASA2	0	.	GRCh38	chr3	141529713	141529713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttattttctgtaggaaaaGtagccatcaaaaaagaagac	18	10	7	6	0	2	2	1	0	1	2	2	3	2	3	1	1	1	2	1	1	9	5	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.361G>T	p.Val121Leu	p.V121L	ENST00000286364	4/24	120	103	17	129	129	0	strelka-varscan-mutect	RASA2,missense_variant,p.Val121Leu,ENST00000286364,NM_001303246.1,NM_001303245.1,NM_006506.3;RASA2,missense_variant,p.Val121Leu,ENST00000452898,;RASA2-IT1,downstream_gene_variant,,ENST00000507770,;RASA2,3_prime_UTR_variant,,ENST00000515549,;	T	ENST00000286364	Transcript	missense_variant	396/5614	361/2550	121/849	V/L	Gta/Tta		1		1	RASA2	HGNC	HGNC:9872	protein_coding	YES	CCDS3117.1	ENSP00000286364	Q15283		UPI00001351F5	NM_001303246.1,NM_001303245.1,NM_006506.3	deleterious(0)		4/24		PROSITE_profiles:PS50004,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF21,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	141529713	141529713	G	T	1	0	0	0	0	1	0	0	0	13220	1043	36	2		2	RASA2	3	141529713	Missense_Mutation	SNP	G	C3N-02089_TP	963496	141529713	56765846	217	29014											
XRN1	0	.	GRCh38	chr3	142403937	142403937	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctggtcaattctggttaTtttgtttttgtttatgtcta	5	25	7	4	0	4	0	1	0	3	0	4	0	4	0	0	2	0	3	0	2	4	10	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1936A>G	p.Ile646Val	p.I646V	ENST00000264951	17/42	229	203	26	274	274	0	strelka-varscan-mutect	XRN1,missense_variant,p.Ile646Val,ENST00000264951,NM_019001.4;XRN1,missense_variant,p.Ile112Val,ENST00000498077,;XRN1,missense_variant,p.Ile646Val,ENST00000392981,NM_001282857.1;RNU6-1294P,downstream_gene_variant,,ENST00000515995,;XRN1,non_coding_transcript_exon_variant,,ENST00000472697,;	C	ENST00000264951	Transcript	missense_variant	2054/10143	1936/5121	646/1706	I/V	Ata/Gta		1		-1	XRN1	HGNC	HGNC:30654	protein_coding	YES	CCDS3123.1	ENSP00000264951	Q8IZH2		UPI0000074113	NM_019001.4	tolerated(0.4)		17/42																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	142403937	142403937	T	C	1	0	0	0	0	1	0	0	0	18017	1493	52	5		5	XRN1	3	142403937	Missense_Mutation	SNP	T	C3N-02089_TP	874224	142403937	55891622	218	29015											
C3orf58	0	.	GRCh38	chr3	143972692	143972692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcagcgcgagctggcgcaGctcgaccagagcatctgcaa	9	5	13	14	5	1	1	0	0	1	1	3	3	1	1	1	1	5	6	1	1	1	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.360G>T	p.Gln120His	p.Q120H	ENST00000315691	1/3	196	174	22	138	138	0	strelka-varscan-mutect	C3orf58,missense_variant,p.Gln120His,ENST00000315691,NM_173552.3;C3orf58,upstream_gene_variant,,ENST00000441925,;C3orf58,upstream_gene_variant,,ENST00000495414,NM_001134470.1;C3orf58,upstream_gene_variant,,ENST00000492452,;C3orf58,non_coding_transcript_exon_variant,,ENST00000493396,;C3orf58,non_coding_transcript_exon_variant,,ENST00000491798,;C3orf58,upstream_gene_variant,,ENST00000483808,;	T	ENST00000315691	Transcript	missense_variant	895/4346	360/1293	120/430	Q/H	caG/caT		1		1	C3orf58	HGNC	HGNC:28490	protein_coding	YES	CCDS3130.1	ENSP00000320081	Q8NDZ4		UPI000006EE5C	NM_173552.3	deleterious(0.04)		1/3		PD307452,hmmpanther:PTHR32073,hmmpanther:PTHR32073:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	143972692	143972692	G	T	1	0	0	0	0	1	0	0	0	2069	962	34	2		2	C3orf58	3	143972692	Missense_Mutation	SNP	G	C3N-02089_TP	1568755	143972692	54322867	219	29016											
HLTF	0	.	GRCh38	chr3	149063430	149063430	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatcaaaccataatagtttaCcttttggggcgggagctaga	13	11	10	7	1	1	1	1	0	0	1	1	2	1	2	2	3	3	2	2	3	6	7	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1160+1G>T		p.X387_splice	ENST00000310053		145	124	21	145	145	0	strelka-varscan-mutect	HLTF,splice_donor_variant,,ENST00000310053,NM_001318934.1,NM_003071.3,NM_139048.2;HLTF,splice_donor_variant,,ENST00000465259,;HLTF,splice_donor_variant,,ENST00000392912,;HLTF,splice_donor_variant,,ENST00000494055,;HLTF,upstream_gene_variant,,ENST00000493881,;	A	ENST00000310053	Transcript	splice_donor_variant	-/5317	1160/3030	387/1009				1		-1	HLTF	HGNC	HGNC:11099	protein_coding	YES	CCDS33875.1	ENSP00000308944	Q14527		UPI0000161FA7	NM_001318934.1,NM_003071.3,NM_139048.2				10/24																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	90	149063430	149063430	C	A	1	0	0	0	0	0	0	1	0	7105	521	18	2		2	HLTF	3	149063430	Splice_Site	SNP	C	C3N-02089_TP	5090738	149063430	49232129	220	29017											
IGSF10	0	.	GRCh38	chr3	151445035	151445035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttttcctccaactatcCtgggcttttcaaatatatac	10	15	4	12	0	1	0	1	0	0	0	4	0	4	0	3	1	3	2	3	1	6	8	rs774688426		C3N-02089_TP	C3N-02089_NB	C	C																c.4946G>T	p.Arg1649Met	p.R1649M	ENST00000282466	4/6	213	188	25	245	244	1	strelka-varscan-mutect	IGSF10,missense_variant,p.Arg1649Met,ENST00000282466,NM_178822.4;IGSF10,upstream_gene_variant,,ENST00000489791,;IGSF10,upstream_gene_variant,,ENST00000495443,;IGSF10,upstream_gene_variant,,ENST00000493841,;	A	ENST00000282466	Transcript	missense_variant	4946/11067	4946/7872	1649/2623	R/M	aGg/aTg	rs774688426	1		-1	IGSF10	HGNC	HGNC:26384	protein_coding	YES	CCDS3160.1	ENSP00000282466	Q6WRI0		UPI00001D629A	NM_178822.4	deleterious(0)		4/6		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs774688426	.												A	3	1	90	151445035	151445035	C	A	1	0	0	0	0	1	0	0	0	7504	681	24	2		2	IGSF10	3	151445035	Missense_Mutation	SNP	C	C3N-02089_TP	2381605	151445035	46850524	221	29018											
VEPH1	0	.	GRCh38	chr3	157364363	157364363	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagactatatcttctgAtagagccaggggtattgctc	9	11	11	10	0	2	3	0	1	2	2	3	3	2	3	2	3	2	2	2	3	4	6	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1277T>A	p.Ile426Asn	p.I426N	ENST00000362010	8/14	337	295	42	296	296	0	strelka-mutect	VEPH1,missense_variant,p.Ile426Asn,ENST00000362010,NM_001167912.1;VEPH1,missense_variant,p.Ile426Asn,ENST00000392833,NM_001167911.1;VEPH1,missense_variant,p.Ile426Asn,ENST00000392832,NM_024621.2;RP11-550I24.2,intron_variant,,ENST00000487238,;VEPH1,non_coding_transcript_exon_variant,,ENST00000488772,;VEPH1,non_coding_transcript_exon_variant,,ENST00000472419,;	T	ENST00000362010	Transcript	missense_variant	1585/4202	1277/2502	426/833	I/N	aTc/aAc		1		-1	VEPH1	HGNC	HGNC:25735	protein_coding	YES	CCDS3179.1	ENSP00000354919	Q14D04		UPI000013F6EE	NM_001167912.1	tolerated(0.11)		8/14		hmmpanther:PTHR21630																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	157364363	157364363	A	T	1	0	0	0	0	1	0	0	0	17700	333	12	4		4	VEPH1	3	157364363	Missense_Mutation	SNP	A	C3N-02089_TP	5919328	157364363	40931196	222	29019											
IQCJ	0	.	GRCh38	chr3	159262565	159262565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcattcagcgagcatggcGagagtacctgcagcggcagg	10	5	15	11	3	1	1	1	0	0	1	1	3	1	1	1	3	6	5	1	3	1	2	rs377145005		C3N-02089_TP	C3N-02089_NB	G	G																c.92G>T	p.Arg31Leu	p.R31L	ENST00000476809	3/10	97	84	13	73	73	0	strelka-varscan-mutect	IQCJ-SCHIP1,missense_variant,p.Arg58Leu,ENST00000485419,NM_001197113.1;IQCJ-SCHIP1,missense_variant,p.Arg31Leu,ENST00000476809,NM_001197114.1;IQCJ,missense_variant,p.Arg58Leu,ENST00000397832,NM_001042706.2;IQCJ,missense_variant,p.Arg31Leu,ENST00000482126,NM_001197100.1;IQCJ,missense_variant,p.Arg58Leu,ENST00000451172,NM_001042705.2;IQCJ,non_coding_transcript_exon_variant,,ENST00000481796,;	T	ENST00000476809	Transcript	missense_variant	92/1611	92/1611	31/536	R/L	cGa/cTa	rs377145005,COSM1143196,COSM582480,COSM582481	1		1	IQCJ-SCHIP1	HGNC	HGNC:38842	protein_coding	YES	CCDS56291.1	ENSP00000418692			UPI00016277EB	NM_001197114.1	deleterious_low_confidence(0)		3/10		Pfam_domain:PF15157											0,1,1,1						MODERATE		SNV	5		0,1,1,1	1										PASS		rs377145005	.												T	3	4	90	159262565	159262565	G	T	1	0	0	0	0	1	0	0	0	7718	1058	37	1		1	IQCJ	3	159262565	Missense_Mutation	SNP	G	C3N-02089_TP	1898202	159262565	39032994	223	29020											
WDR49	0	.	GRCh38	chr3	167505315	167505315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgactacttactgaatgatTtttttataacttcaccataa	13	17	4	7	0	1	3	1	3	0	0	1	3	1	3	1	0	3	0	1	0	6	9	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1820A>G	p.Lys607Arg	p.K607R	ENST00000308378	13/15	32	26	6	52	52	0	strelka-varscan-mutect	WDR49,missense_variant,p.Lys607Arg,ENST00000308378,NM_178824.3;WDR49,missense_variant,p.Lys584Arg,ENST00000472600,;WDR49,intron_variant,,ENST00000479765,;WDR49,non_coding_transcript_exon_variant,,ENST00000476376,;	C	ENST00000308378	Transcript	missense_variant	2126/2594	1820/2094	607/697	K/R	aAa/aGa		1		-1	WDR49	HGNC	HGNC:26587	protein_coding	YES	CCDS3201.1	ENSP00000311343	Q8IV35		UPI00000746AD	NM_178824.3	tolerated(0.13)		13/15		hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF219																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	167505315	167505315	T	C	1	0	0	0	0	1	0	0	0	17862	1841	64	5		5	WDR49	3	167505315	Missense_Mutation	SNP	T	C3N-02089_TP	8242750	167505315	30790244	224	29021											
SPATA16	0	.	GRCh38	chr3	173117125	173117125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttaatcccatacctcaaGtgctgttctgaactgtcctg	8	15	6	12	0	3	1	1	1	2	0	5	1	5	1	3	0	3	2	3	0	4	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.607C>A	p.Leu203Ile	p.L203I	ENST00000351008	2/11	344	296	48	326	326	0	strelka-varscan-mutect	SPATA16,missense_variant,p.Leu203Ile,ENST00000351008,NM_031955.5;	T	ENST00000351008	Transcript	missense_variant	791/2106	607/1710	203/569	L/I	Ctt/Att		1		-1	SPATA16	HGNC	HGNC:29935	protein_coding	YES	CCDS3221.1	ENSP00000341765	Q9BXB7	A0A140VJV8	UPI000013D9BF	NM_031955.5	deleterious(0.01)		2/11		Gene3D:1.25.40.10,Pfam_domain:PF15015,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF336,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	173117125	173117125	G	T	1	0	0	0	0	1	0	0	0	15331	1043	36	2		2	SPATA16	3	173117125	Missense_Mutation	SNP	G	C3N-02089_TP	5611810	173117125	25178434	225	29022											
NLGN1	0	.	GRCh38	chr3	174281072	174281072	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatgaatgtgagtccatTcatccacatgaggtggttct	10	13	10	8	0	3	3	2	3	1	0	5	4	5	3	2	2	0	1	2	2	1	2	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.2241T>C	p.=	p.I747I	ENST00000457714	7/7	226	189	37	200	200	0	strelka-varscan-mutect	NLGN1,synonymous_variant,p.=,ENST00000457714,NM_014932.3;NLGN1,synonymous_variant,p.=,ENST00000361589,;NLGN1,synonymous_variant,p.=,ENST00000401917,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;NLGN1,downstream_gene_variant,,ENST00000469564,;	C	ENST00000457714	Transcript	synonymous_variant	2670/8242	2241/2472	747/823	I	atT/atC		1		1	NLGN1	HGNC	HGNC:14291	protein_coding	YES	CCDS3222.1	ENSP00000392500	Q8N2Q7		UPI0000072F54	NM_014932.3			7/7																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	174281072	174281072	T	C	1	0	0	0	0	0	0	0	1	10498	1771	62	5		5	NLGN1	3	174281072	Silent	SNP	T	C3N-02089_TP	1163947	174281072	24014487	226	29023											
ABCC5	0	.	GRCh38	chr3	183989297	183989297	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgggatgctcctcatcCaggattctgagctgagaatg	8	11	11	11	0	2	2	1	2	1	1	4	5	4	4	3	2	2	2	3	2	1	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.216G>C	p.=	p.L72L	ENST00000334444	3/30	210	185	25	174	174	0	strelka-varscan-mutect	ABCC5,synonymous_variant,p.=,ENST00000334444,NM_005688.2;ABCC5,synonymous_variant,p.=,ENST00000265586,;ABCC5,synonymous_variant,p.=,ENST00000427120,;ABCC5,synonymous_variant,p.=,ENST00000382494,NM_001023587.1;ABCC5,synonymous_variant,p.=,ENST00000392579,;ABCC5,synonymous_variant,p.=,ENST00000437341,;ABCC5,synonymous_variant,p.=,ENST00000437205,NM_001320032.1;ABCC5,synonymous_variant,p.=,ENST00000443376,;ABCC5,3_prime_UTR_variant,,ENST00000438979,;	G	ENST00000334444	Transcript	synonymous_variant	457/5921	216/4314	72/1437	L	ctG/ctC		1		-1	ABCC5	HGNC	HGNC:56	protein_coding	YES	CCDS43176.1	ENSP00000333926	O15440		UPI000004A33C	NM_005688.2			3/30		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF196																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	90	183989297	183989297	C	G	1	0	0	0	0	0	0	0	1	60	581	21	4		4	ABCC5	3	183989297	Silent	SNP	C	C3N-02089_TP	9708225	183989297	14306262	227	29024											
DVL3	0	.	GRCh38	chr3	184170483	184170483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcccagcgagcgctcagggCcggcggccagcgagcacagc	7	1	16	17	6	1	0	1	0	0	0	1	2	1	0	3	3	5	2	3	3	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1879C>T	p.Pro627Ser	p.P627S	ENST00000313143	15/15	352	286	66	295	295	0	strelka-varscan-mutect	DVL3,missense_variant,p.Pro627Ser,ENST00000313143,NM_004423.3;DVL3,missense_variant,p.Pro610Ser,ENST00000431765,;AP2M1,upstream_gene_variant,,ENST00000382456,NM_001025205.1;AP2M1,upstream_gene_variant,,ENST00000292807,NM_004068.3;AP2M1,upstream_gene_variant,,ENST00000411763,;DVL3,downstream_gene_variant,,ENST00000423300,;AP2M1,upstream_gene_variant,,ENST00000448139,;AP2M1,upstream_gene_variant,,ENST00000427072,;AP2M1,upstream_gene_variant,,ENST00000455925,;AP2M1,upstream_gene_variant,,ENST00000460862,;DVL3,non_coding_transcript_exon_variant,,ENST00000478247,;AP2M1,upstream_gene_variant,,ENST00000487958,;AP2M1,upstream_gene_variant,,ENST00000466598,;AP2M1,upstream_gene_variant,,ENST00000484469,;DVL3,downstream_gene_variant,,ENST00000478639,;	T	ENST00000313143	Transcript	missense_variant	2127/5254	1879/2151	627/716	P/S	Ccg/Tcg		1		1	DVL3	HGNC	HGNC:3087	protein_coding	YES	CCDS3253.1	ENSP00000316054	Q92997		UPI00001299A9	NM_004423.3	tolerated(0.35)		15/15		Pfam_domain:PF12316,hmmpanther:PTHR10878,hmmpanther:PTHR10878:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	184170483	184170483	C	T	1	0	0	0	0	1	0	0	0	4659	739	26	3		3	DVL3	3	184170483	Missense_Mutation	SNP	C	C3N-02089_TP	181186	184170483	14125076	228	29025											
VWA5B2	0	.	GRCh38	chr3	184236183	184236183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggctgtgaagtccctccCgccccagacgcttatcaacc	7	10	8	16	2	1	2	1	1	0	1	3	2	3	2	5	1	1	2	5	1	3	2	rs771408820		C3N-02089_TP	C3N-02089_NB	C	C																c.1133C>A	p.Pro378Gln	p.P378Q	ENST00000426955	8/19	275	202	73	206	206	0	strelka-varscan-mutect	VWA5B2,missense_variant,p.Pro378Gln,ENST00000426955,NM_138345.1;VWA5B2,missense_variant,p.Pro159Gln,ENST00000273794,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000461141,;VWA5B2,non_coding_transcript_exon_variant,,ENST00000474580,;VWA5B2,downstream_gene_variant,,ENST00000497229,;VWA5B2,upstream_gene_variant,,ENST00000493493,;	A	ENST00000426955	Transcript	missense_variant	1233/4120	1133/3729	378/1242	P/Q	cCg/cAg	rs771408820	1		1	VWA5B2	HGNC	HGNC:25144	protein_coding	YES	CCDS54686.1	ENSP00000398688	Q8N398		UPI0000412DE9	NM_138345.1	deleterious(0)		8/19		Pfam_domain:PF13768,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF107,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		rs771408820	.												A	3	1	90	184236183	184236183	C	A	1	0	0	0	0	1	0	0	0	17798	652	23	1		1	VWA5B2	3	184236183	Missense_Mutation	SNP	C	C3N-02089_TP	65700	184236183	14059376	229	29026											
ADIPOQ	0	.	GRCh38	chr3	186854350	186854350	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttacgttactatccccaaCatgcccattcgctttaccaa	11	12	3	15	2	0	0	0	0	0	0	2	0	1	0	4	0	5	2	4	0	6	6	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.381C>T	p.=	p.N127N	ENST00000444204	4/4	295	274	21	306	306	0	strelka-varscan-mutect	ADIPOQ,synonymous_variant,p.=,ENST00000444204,NM_001177800.1;ADIPOQ,synonymous_variant,p.=,ENST00000320741,NM_004797.3;ADIPOQ-AS1,non_coding_transcript_exon_variant,,ENST00000422718,;	T	ENST00000444204	Transcript	synonymous_variant	486/4599	381/735	127/244	N	aaC/aaT		1		1	ADIPOQ	HGNC	HGNC:13633	protein_coding	YES	CCDS3284.1	ENSP00000389814	Q15848	A8K660	UPI0000034252	NM_001177800.1			4/4		PROSITE_profiles:PS50871,hmmpanther:PTHR24023:SF557,hmmpanther:PTHR24023,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	186854350	186854350	C	T	1	0	0	0	0	0	0	0	1	390	477	17	3		3	ADIPOQ	3	186854350	Silent	SNP	C	C3N-02089_TP	2618167	186854350	11441209	230	29027											
MASP1	0	.	GRCh38	chr3	187241535	187241535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttattcatccagactccttGggcagaacaggtatatatac	12	13	7	9	0	1	2	1	0	0	2	3	2	3	2	2	2	2	2	2	2	6	8	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1249C>A	p.Gln417Lys	p.Q417K	ENST00000296280	10/11	303	251	52	289	288	1	strelka-varscan-mutect	MASP1,missense_variant,p.Gln417Lys,ENST00000337774,NM_001879.5;MASP1,missense_variant,p.Gln417Lys,ENST00000296280,NM_139125.3;MASP1,missense_variant,p.Gln304Lys,ENST00000392472,;MASP1,downstream_gene_variant,,ENST00000169293,NM_001031849.2;MASP1,non_coding_transcript_exon_variant,,ENST00000468121,;MASP1,intron_variant,,ENST00000495249,;MASP1,non_coding_transcript_exon_variant,,ENST00000480349,;	T	ENST00000296280	Transcript	missense_variant	1475/4015	1249/2187	417/728	Q/K	Caa/Aaa		1		-1	MASP1	HGNC	HGNC:6901	protein_coding	YES	CCDS33908.1	ENSP00000296280	P48740		UPI000007256E	NM_139125.3	tolerated(0.62)		10/11		Gene3D:2.10.70.10,Pfam_domain:PF00084,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS50923,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,SMART_domains:SM00032,Superfamily_domains:SSF50494,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		rs1335410378	.												T	3	4	90	187241535	187241535	G	T	1	0	0	0	0	1	0	0	0	9248	1357	47	2		2	MASP1	3	187241535	Missense_Mutation	SNP	G	C3N-02089_TP	387185	187241535	11054024	231	29028											
ATP13A4	0	.	GRCh38	chr3	193514780	193514780	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgccatgctggtctccagTaaaacaccaaggggaggatt	11	8	12	10	1	1	0	0	0	1	0	2	2	1	2	3	4	3	2	3	4	3	2	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.152A>T	p.Tyr51Phe	p.Y51F	ENST00000342695	2/30	312	225	87	275	275	0	strelka-varscan-mutect	ATP13A4,missense_variant,p.Tyr51Phe,ENST00000342695,NM_032279.3;ATP13A4,missense_variant,p.Tyr51Phe,ENST00000392443,;ATP13A4,missense_variant,p.Tyr51Phe,ENST00000295548,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000489140,;ATP13A4,missense_variant,p.Tyr51Phe,ENST00000450950,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000490925,;	A	ENST00000342695	Transcript	missense_variant	475/4208	152/3591	51/1196	Y/F	tAc/tTc		1		-1	ATP13A4	HGNC	HGNC:25422	protein_coding	YES	CCDS3304.2	ENSP00000339182	Q4VNC1		UPI0000520D50	NM_032279.3	deleterious(0)		2/30		Pfam_domain:PF12409,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF279,TIGRFAM_domain:TIGR01657,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	193514780	193514780	T	A	1	0	0	0	0	1	0	0	0	1278	1638	57	4		4	ATP13A4	3	193514780	Missense_Mutation	SNP	T	C3N-02089_TP	6273245	193514780	4780779	232	29029											
LRCH3	0	.	GRCh38	chr3	197817277	197817277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtcacttccagaagaaattgGacaccttagacatttgatgg	13	11	9	8	0	1	4	1	1	0	3	2	5	2	5	2	2	0	0	2	2	3	4	rs757635482		C3N-02089_TP	C3N-02089_NB	G	G																c.509G>C	p.Gly170Ala	p.G170A	ENST00000334859	3/19	90	63	27	119	119	0	strelka-mutect	LRCH3,missense_variant,p.Gly170Ala,ENST00000438796,;LRCH3,missense_variant,p.Gly170Ala,ENST00000425562,;LRCH3,missense_variant,p.Gly170Ala,ENST00000414675,;LRCH3,missense_variant,p.Gly170Ala,ENST00000334859,NM_032773.3;LRCH3,intron_variant,,ENST00000441090,;LRCH3,upstream_gene_variant,,ENST00000493726,;LRCH3,intron_variant,,ENST00000443727,;	C	ENST00000334859	Transcript	missense_variant	514/2258	509/2139	170/712	G/A	gGa/gCa	rs757635482	1		1	LRCH3	HGNC	HGNC:28637	protein_coding	YES	CCDS3330.1	ENSP00000334375	Q96II8		UPI000006E903	NM_032773.3	deleterious(0.04)		3/19		hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF423,Gene3D:3.80.10.10,Pfam_domain:PF13855,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs757635482	.												C	3	2	90	197817277	197817277	G	C	1	0	0	0	0	1	0	0	0	8828	1174	41	4		4	LRCH3	3	197817277	Missense_Mutation	SNP	G	C3N-02089_TP	4302497	197817277	478282	233	29030											
DGKQ	0	.	GRCh38	chr4	967129	967129	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcctcgggcccagtctcacTtgagccagccagggtagatc	8	7	12	14	1	1	2	1	1	1	1	4	2	1	2	4	2	3	1	4	2	1	2	rs772686752		C3N-02089_TP	C3N-02089_NB	T	T																c.1220A>T	p.Lys407Met	p.K407M	ENST00000273814	9/23	67	57	10	67	67	0	strelka-mutect	DGKQ,missense_variant,p.Lys407Met,ENST00000273814,NM_001347.3;DGKQ,missense_variant,p.Lys354Met,ENST00000509465,;DGKQ,upstream_gene_variant,,ENST00000515182,;DGKQ,downstream_gene_variant,,ENST00000510286,;DGKQ,splice_region_variant,,ENST00000502309,;	A	ENST00000273814	Transcript	missense_variant,splice_region_variant	1294/4636	1220/2829	407/942	K/M	aAg/aTg	rs772686752	1		-1	DGKQ	HGNC	HGNC:2856	protein_coding	YES	CCDS3342.1	ENSP00000273814	P52824	A0A140VKC1	UPI00001AE9B4	NM_001347.3	deleterious(0)		9/23		PROSITE_profiles:PS50200,Pfam_domain:PF00788,SMART_domains:SM00314,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		rs772686752	.												A	3	1	90	967129	967129	T	A	1	0	0	0	0	1	0	0	0	4279	1623	56	4		4	DGKQ	4	967129	Missense_Mutation	SNP	T	C3N-02089_TP		967129	189247426	234	29031											
SLBP	0	.	GRCh38	chr4	1693608	1693608	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggcagttagctcatggCtgagaagtctctcaagggtt	9	10	15	7	0	3	1	2	1	1	1	4	2	3	1	0	4	1	5	0	4	3	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.802G>T	p.Ala268Ser	p.A268S	ENST00000489418	8/8	158	132	26	172	172	0	strelka-varscan-mutect	SLBP,missense_variant,p.Ala268Ser,ENST00000489418,NM_006527.2;SLBP,missense_variant,p.Ala275Ser,ENST00000318386,;SLBP,missense_variant,p.Ala229Ser,ENST00000429429,;SLBP,missense_variant,p.Ala223Ser,ENST00000483348,;SLBP,missense_variant,p.Ala233Ser,ENST00000488267,NM_001306074.1;SLBP,downstream_gene_variant,,ENST00000480936,;	A	ENST00000489418	Transcript	missense_variant	1169/1977	802/813	268/270	A/S	Gcc/Tcc		1		-1	SLBP	HGNC	HGNC:10904	protein_coding	YES	CCDS3350.1	ENSP00000417686	Q14493	Q53XR2	UPI0000135A0D	NM_006527.2	tolerated_low_confidence(0.27)		8/8		hmmpanther:PTHR17408,hmmpanther:PTHR17408:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	1693608	1693608	C	A	1	0	0	0	0	1	0	0	0	14637	797	28	2		2	SLBP	4	1693608	Missense_Mutation	SNP	C	C3N-02089_TP	726479	1693608	188520947	235	29032											
CFAP99	0	.	GRCh38	chr4	2452150	2452150	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctttgcccagggttgataAgctcgtggatggggctgggg	5	11	17	8	1	1	1	0	1	1	0	2	2	1	2	1	6	2	3	1	6	1	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.965A>T	p.Lys322Met	p.K322M	ENST00000616117	10/15	178	143	35	156	156	0	strelka-varscan-mutect	CFAP99,missense_variant,p.Lys322Met,ENST00000635017,;CFAP99,missense_variant,p.Lys322Met,ENST00000616117,NM_001193282.2;CFAP99,missense_variant,p.Lys67Met,ENST00000506607,;CFAP99,downstream_gene_variant,,ENST00000511731,;CFAP99,downstream_gene_variant,,ENST00000514556,;CFAP99,downstream_gene_variant,,ENST00000515732,;	T	ENST00000616117	Transcript	missense_variant	965/1941	965/1941	322/646	K/M	aAg/aTg		1		1	CFAP99	HGNC	HGNC:51180	protein_coding	YES	CCDS75092.1	ENSP00000480601		A0A087WWY8	UPI00043788D2	NM_001193282.2	tolerated(0.05)		10/15		hmmpanther:PTHR34649,hmmpanther:PTHR34649:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	2452150	2452150	A	T	1	0	0	0	0	1	0	0	0	3036	72	3	4		4	CFAP99	4	2452150	Missense_Mutation	SNP	A	C3N-02089_TP	758542	2452150	187762405	236	29033											
HGFAC	0	.	GRCh38	chr4	3449238	3449239	+	Frame_Shift_Ins	INS	-	-	T																															accaacgtctctgcccagggINSggactcaggggggcccctgg																								novel		C3N-02089_TP	C3N-02089_NB	-	-																c.1808_1809insT	p.Asp604GlyfsTer24	p.D604Gfs*24	ENST00000511533	15/15	89	70	19	93	92	1	sindel-varindel-pindel	HGFAC,frameshift_variant,p.Asp597GlyfsTer24,ENST00000382774,NM_001528.3;HGFAC,frameshift_variant,p.Asp604GlyfsTer24,ENST00000511533,NM_001297439.1;HGFAC,splice_region_variant,,ENST00000509689,;HGFAC,downstream_gene_variant,,ENST00000506132,;	T	ENST00000511533	Transcript	frameshift_variant,splice_region_variant	1835-1836/2016	1808-1809/1989	603/662	G/GX	ggg/ggTg		1		1	HGFAC	HGNC	HGNC:4894	protein_coding	YES	CCDS75098.1	ENSP00000421801		D6RAR4	UPI0001D3B0DD	NM_001297439.1			15/15		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF112,hmmpanther:PTHR24256,PROSITE_patterns:PS00135,Pfam_domain:PF00089,PIRSF_domain:PIRSF001146,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	90	3449238	3449238	-	T	1	0	1	1	0	0	0	0	0	6970	1246	43	0		0	HGFAC	4	3449238	Frame_Shift_Ins	INS	-	C3N-02089_TP	997088	3449238	186765317	237	29034											
OTOP1	0	.	GRCh38	chr4	4197622	4197622	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagattgagccccaggaGataagccaggagcccgaggc	12	3	14	12	1	0	3	0	1	0	2	0	6	0	4	5	3	3	0	5	3	2	2			C3N-02089_TP	C3N-02089_NB	G	G																c.1212C>A	p.=	p.I404I	ENST00000296358	5/6	179	153	26	194	194	0	strelka-varscan-mutect	OTOP1,synonymous_variant,p.=,ENST00000296358,NM_177998.1;	T	ENST00000296358	Transcript	synonymous_variant	1237/1864	1212/1839	404/612	I	atC/atA	COSM3603916	1		-1	OTOP1	HGNC	HGNC:19656	protein_coding	YES	CCDS3372.1	ENSP00000296358	Q7RTM1		UPI0000186945	NM_177998.1			5/6		Pfam_domain:PF03189,hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF19											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	90	4197622	4197622	G	T	1	0	0	0	0	0	0	0	1	11373	932	33	2		2	OTOP1	4	4197622	Silent	SNP	G	C3N-02089_TP	748384	4197622	186016933	238	29035											
ZBTB49	0	.	GRCh38	chr4	4320730	4320730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgagatctgtaacaagtGctttacccgctctgcggtgc	8	12	11	10	2	2	1	0	1	2	1	2	2	2	1	1	1	5	3	1	1	3	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1712G>T	p.Cys571Phe	p.C571F	ENST00000337872	8/8	336	289	47	323	323	0	strelka-varscan-mutect	ZBTB49,missense_variant,p.Cys571Phe,ENST00000337872,NM_145291.3;ZBTB49,downstream_gene_variant,,ENST00000504302,;RP11-265O12.1,upstream_gene_variant,,ENST00000509015,;ZBTB49,3_prime_UTR_variant,,ENST00000503703,;ZBTB49,3_prime_UTR_variant,,ENST00000515012,;ZBTB49,downstream_gene_variant,,ENST00000511458,;	T	ENST00000337872	Transcript	missense_variant	1833/2889	1712/2298	571/765	C/F	tGc/tTc		1		1	ZBTB49	HGNC	HGNC:19883	protein_coding	YES	CCDS3375.1	ENSP00000338807	Q6ZSB9		UPI000022C559	NM_145291.3	deleterious(0)		8/8		Gene3D:3.30.160.60,Pfam_domain:PF12874,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF237,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	4320730	4320730	G	T	1	0	0	0	0	1	0	0	0	18120	1319	46	2		2	ZBTB49	4	4320730	Missense_Mutation	SNP	G	C3N-02089_TP	123108	4320730	185893825	239	29036											
EVC2	0	.	GRCh38	chr4	5694340	5694340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacttaatacttaccaggcGgtgtgttataggagactctc	11	12	10	8	1	1	1	0	0	1	1	2	3	1	1	1	3	3	1	1	3	6	5	rs148388393		C3N-02089_TP	C3N-02089_NB	G	G																c.445C>T	p.Arg149Cys	p.R149C	ENST00000344408	3/22	258	237	21	318	317	1	strelka-varscan-mutect	EVC2,missense_variant,p.Arg69Cys,ENST00000310917,NM_001166136.1;EVC2,missense_variant,p.Arg149Cys,ENST00000344408,NM_147127.4;EVC2,missense_variant,p.Arg69Cys,ENST00000475313,;EVC2,missense_variant,p.Arg69Cys,ENST00000509670,;	A	ENST00000344408	Transcript	missense_variant	499/4390	445/3927	149/1308	R/C	Cgc/Tgc	rs148388393,COSM4125251,COSM4125252,COSM5309198,COSM587555	1		-1	EVC2	HGNC	HGNC:19747	protein_coding	YES	CCDS3382.2	ENSP00000342144	Q86UK5		UPI00001910B5	NM_147127.4	deleterious(0.02)		3/22		hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF14											0,1,1,1,1						MODERATE	1	SNV	1		0,1,1,1,1	1										PASS		rs148388393	.												A	3	1	90	5694340	5694340	G	A	1	0	0	0	0	1	0	0	0	5153	1130	39	1		1	EVC2	4	5694340	Missense_Mutation	SNP	G	C3N-02089_TP	1373610	5694340	184520215	240	29037											
EVC2	0	.	GRCh38	chr4	5697597	5697597	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagaaaaactcacctgcAgtcttaaagtgacagcattc	16	8	7	10	0	2	3	1	1	1	2	3	3	2	3	1	0	3	2	1	0	5	2	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.279T>A	p.=	p.T93T	ENST00000344408	2/22	275	254	21	277	276	1	strelka-varscan-mutect	EVC2,synonymous_variant,p.=,ENST00000310917,NM_001166136.1;EVC2,synonymous_variant,p.=,ENST00000344408,NM_147127.4;EVC2,synonymous_variant,p.=,ENST00000475313,;EVC2,synonymous_variant,p.=,ENST00000509670,;	T	ENST00000344408	Transcript	synonymous_variant	333/4390	279/3927	93/1308	T	acT/acA		1		-1	EVC2	HGNC	HGNC:19747	protein_coding	YES	CCDS3382.2	ENSP00000342144	Q86UK5		UPI00001910B5	NM_147127.4			2/22		hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF14																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	5697597	5697597	A	T	1	0	0	0	0	0	0	0	1	5153	202	7	4		4	EVC2	4	5697597	Silent	SNP	A	C3N-02089_TP	3257	5697597	184516958	241	29038											
KIAA0232	0	.	GRCh38	chr4	6862706	6862706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaaaacagtagaactttagGtgagattcctacattagttt	14	13	8	6	0	0	2	0	1	0	2	1	3	1	2	1	1	3	3	1	1	7	7	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2324G>T	p.Gly775Val	p.G775V	ENST00000307659	7/10	99	84	15	131	131	0	strelka-varscan-mutect	KIAA0232,missense_variant,p.Gly775Val,ENST00000307659,NM_014743.2;KIAA0232,missense_variant,p.Gly775Val,ENST00000425103,NM_001100590.1;KIAA0232,downstream_gene_variant,,ENST00000503069,;	T	ENST00000307659	Transcript	missense_variant	2779/7841	2324/4188	775/1395	G/V	gGt/gTt		1		1	KIAA0232	HGNC	HGNC:28992	protein_coding	YES	CCDS43209.1	ENSP00000303928	Q92628		UPI000013EC3F	NM_014743.2	deleterious_low_confidence(0.03)		7/10		Pfam_domain:PF15376,hmmpanther:PTHR17611,hmmpanther:PTHR17611:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	6862706	6862706	G	T	1	0	0	0	0	1	0	0	0	8079	1261	44	2		2	KIAA0232	4	6862706	Missense_Mutation	SNP	G	C3N-02089_TP	1165109	6862706	183351849	242	29039											
FAM200B	0	.	GRCh38	chr4	15688413	15688413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacttaaaagtaatcgtcCtagctattacatgtttccaa	15	13	5	8	1	0	1	0	0	0	1	3	1	2	1	2	0	2	3	2	0	8	6	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1436C>T	p.Pro479Leu	p.P479L	ENST00000622362	2/2	100	80	20	158	158	0	strelka-varscan-mutect	FAM200B,missense_variant,p.Pro479Leu,ENST00000622362,NM_001145191.1;FAM200B,missense_variant,p.Pro479Leu,ENST00000422728,;FAM200B,downstream_gene_variant,,ENST00000503617,;FAM200B,intron_variant,,ENST00000504137,;FAM200B,intron_variant,,ENST00000505260,;FAM200B,intron_variant,,ENST00000502856,;FAM200B,intron_variant,,ENST00000506610,;FAM200B,intron_variant,,ENST00000504823,;FAM200B,intron_variant,,ENST00000515697,;FAM200B,intron_variant,,ENST00000503600,;FAM200B,intron_variant,,ENST00000504598,;FAM200B,downstream_gene_variant,,ENST00000507305,;FAM200B,downstream_gene_variant,,ENST00000515430,;FAM200B,downstream_gene_variant,,ENST00000513053,;FAM200B,downstream_gene_variant,,ENST00000510920,;FAM200B,downstream_gene_variant,,ENST00000512855,;FAM200B,downstream_gene_variant,,ENST00000510032,;FAM200B,downstream_gene_variant,,ENST00000502502,;FAM200B,downstream_gene_variant,,ENST00000508567,;FAM200B,downstream_gene_variant,,ENST00000514803,;FAM200B,downstream_gene_variant,,ENST00000509022,;FAM200B,downstream_gene_variant,,ENST00000507992,;FAM200B,downstream_gene_variant,,ENST00000510186,;	T	ENST00000622362	Transcript	missense_variant	2351/4377	1436/1974	479/657	P/L	cCt/cTt		1		1	FAM200B	HGNC	HGNC:27740	protein_coding	YES	CCDS47028.1	ENSP00000483930	P0CF97		UPI0000160C4C	NM_001145191.1	deleterious(0.01)		2/2		hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF93,Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	15688413	15688413	C	T	1	0	0	0	0	1	0	0	0	5384	681	24	3		3	FAM200B	4	15688413	Missense_Mutation	SNP	C	C3N-02089_TP	8825707	15688413	174526142	243	29040											
KCNIP4	0	.	GRCh38	chr4	20732723	20732723	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgggagcatcttctttGaggacaggatatgtacattt	9	15	11	6	0	3	1	0	1	3	0	3	4	3	4	0	3	2	2	0	3	2	5	rs774475425		C3N-02089_TP	C3N-02089_NB	G	G																c.600C>A	p.=	p.L200L	ENST00000382152	7/9	251	216	35	274	272	2	strelka-varscan-mutect	KCNIP4,synonymous_variant,p.=,ENST00000382148,NM_001035003.1;KCNIP4,synonymous_variant,p.=,ENST00000359001,NM_147182.3;KCNIP4,synonymous_variant,p.=,ENST00000382152,NM_025221.5;KCNIP4,synonymous_variant,p.=,ENST00000382150,NM_147183.3;KCNIP4,synonymous_variant,p.=,ENST00000447367,NM_147181.3;KCNIP4,synonymous_variant,p.=,ENST00000509207,NM_001035004.1;PACRGL,intron_variant,,ENST00000507634,;PACRGL,downstream_gene_variant,,ENST00000360916,NM_145048.3;PACRGL,downstream_gene_variant,,ENST00000295290,;PACRGL,downstream_gene_variant,,ENST00000513459,NM_001317849.1;PACRGL,downstream_gene_variant,,ENST00000444671,NM_001130727.1;PACRGL,downstream_gene_variant,,ENST00000503585,NM_001258345.1;KCNIP4,non_coding_transcript_exon_variant,,ENST00000382149,;KCNIP4,3_prime_UTR_variant,,ENST00000515786,;PACRGL,intron_variant,,ENST00000471979,;PACRGL,intron_variant,,ENST00000467997,;PACRGL,intron_variant,,ENST00000506702,;	T	ENST00000382152	Transcript	synonymous_variant	768/1767	600/753	200/250	L	ctC/ctA	rs774475425	1		-1	KCNIP4	HGNC	HGNC:30083	protein_coding	YES	CCDS43216.1	ENSP00000371587	Q6PIL6		UPI000004A274	NM_025221.5			7/9		hmmpanther:PTHR23055:SF30,hmmpanther:PTHR23055,Pfam_domain:PF13499,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	LOW		SNV	5			1										PASS		rs774475425	.												T	2	4	90	20732723	20732723	G	T	1	0	0	0	0	0	0	0	1	7958	1277	45	2		2	KCNIP4	4	20732723	Silent	SNP	G	C3N-02089_TP	5044310	20732723	169481832	244	29041											
LGI2	0	.	GRCh38	chr4	25024837	25024837	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacaggtgagtcaggtcacgGaggccacgaaaggcatttct	11	8	13	9	2	3	1	2	1	1	0	3	3	3	2	1	5	1	1	1	5	2	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.396C>T	p.=	p.L132L	ENST00000382114	4/8	85	78	7	95	95	0	strelka-varscan-mutect	LGI2,synonymous_variant,p.=,ENST00000382114,NM_018176.3;LGI2,synonymous_variant,p.=,ENST00000512108,;	A	ENST00000382114	Transcript	synonymous_variant	582/6428	396/1638	132/545	L	ctC/ctT		1		-1	LGI2	HGNC	HGNC:18710	protein_coding	YES	CCDS3431.1	ENSP00000371548	Q8N0V4		UPI0000047256	NM_018176.3			4/8		hmmpanther:PTHR24367:SF21,hmmpanther:PTHR24367,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		rs1422183165	.												A	2	1	90	25024837	25024837	G	A	1	0	0	0	0	0	0	0	1	8662	1161	41	3		3	LGI2	4	25024837	Silent	SNP	G	C3N-02089_TP	4292114	25024837	165189718	245	29042											
STIM2	0	.	GRCh38	chr4	27017718	27017718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtttttcagggaccatGgctaaacctcctggatcatt	8	14	10	9	0	2	0	2	0	0	0	3	2	3	2	3	4	1	2	3	4	2	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1521G>T	p.Met507Ile	p.M507I	ENST00000465503	12/13	119	103	16	171	171	0	strelka-varscan-mutect	STIM2,missense_variant,p.Met499Ile,ENST00000467087,NM_020860.3;STIM2,missense_variant,p.Met499Ile,ENST00000467011,NM_001169117.1;STIM2,missense_variant,p.Met507Ile,ENST00000465503,NM_001169118.1;STIM2,missense_variant,p.Met207Ile,ENST00000473519,;STIM2,missense_variant,p.Met101Ile,ENST00000477474,;STIM2,upstream_gene_variant,,ENST00000504511,;	T	ENST00000465503	Transcript	missense_variant	1899/3613	1521/2265	507/754	M/I	atG/atT		1		1	STIM2	HGNC	HGNC:19205	protein_coding	YES	CCDS54751.1	ENSP00000417569		H0Y860	UPI0001B79443	NM_001169118.1	tolerated(0.64)		12/13		hmmpanther:PTHR15136,hmmpanther:PTHR15136:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	27017718	27017718	G	T	1	0	0	0	0	1	0	0	0	15661	1348	47	2		2	STIM2	4	27017718	Missense_Mutation	SNP	G	C3N-02089_TP	1992881	27017718	163196837	246	29043											
TLR1	0	.	GRCh38	chr4	38797108	38797108	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagagttatgttgcaggatAattcagacatgtgaaagtcc	13	11	11	6	0	1	3	1	1	0	2	2	4	2	4	1	1	1	4	1	1	3	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1724T>A	p.Leu575Ter	p.L575*	ENST00000308979	4/4	314	286	28	316	316	0	varscan-mutect	TLR1,stop_gained,p.Leu575Ter,ENST00000308979,NM_003263.3;TLR1,stop_gained,p.Leu575Ter,ENST00000502213,;TLR1,downstream_gene_variant,,ENST00000505940,;TLR1,downstream_gene_variant,,ENST00000508364,;TLR1,downstream_gene_variant,,ENST00000515861,;TLR1,downstream_gene_variant,,ENST00000506146,;TLR1,intron_variant,,ENST00000505744,;TLR1,upstream_gene_variant,,ENST00000510552,;TLR1,downstream_gene_variant,,ENST00000509754,;TLR1,downstream_gene_variant,,ENST00000508535,;	T	ENST00000308979	Transcript	stop_gained	1998/2849	1724/2361	575/786	L/*	tTa/tAa		1		-1	TLR1	HGNC	HGNC:11847	protein_coding	YES	CCDS33973.1	ENSP00000354932	Q15399		UPI000013EDFA	NM_003263.3			4/4		Pfam_domain:PF01463,PIRSF_domain:PIRSF037595,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF261,SMART_domains:SM00082																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	90	38797108	38797108	A	T	1	0	0	0	0	0	1	0	0	16395	372	13	4		4	TLR1	4	38797108	Nonsense_Mutation	SNP	A	C3N-02089_TP	11779390	38797108	151417447	247	29044											
LIMCH1	0	.	GRCh38	chr4	41598924	41598924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttttttccttctaggacaAtattatcttattcttgagag	9	20	5	7	0	3	1	0	1	3	1	4	3	4	2	1	1	0	0	1	1	5	10	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.242A>G	p.Asn81Ser	p.N81S	ENST00000313860	4/27	118	83	35	106	106	0	strelka-varscan-mutect	LIMCH1,missense_variant,p.Asn81Ser,ENST00000313860,NM_014988.3;LIMCH1,missense_variant,p.Asn81Ser,ENST00000512820,NM_001289122.1;LIMCH1,missense_variant,p.Asn81Ser,ENST00000512946,NM_001112717.2;LIMCH1,missense_variant,p.Asn81Ser,ENST00000508501,NM_001112718.2;LIMCH1,missense_variant,p.Asn81Ser,ENST00000512632,;LIMCH1,5_prime_UTR_variant,,ENST00000503057,;LIMCH1,5_prime_UTR_variant,,ENST00000513024,NM_001289124.1;LIMCH1,5_prime_UTR_variant,,ENST00000511496,;LIMCH1,5_prime_UTR_variant,,ENST00000509638,;LIMCH1,5_prime_UTR_variant,,ENST00000446625,;LIMCH1,5_prime_UTR_variant,,ENST00000511424,;LIMCH1,non_coding_transcript_exon_variant,,ENST00000514190,;LIMCH1,non_coding_transcript_exon_variant,,ENST00000515847,;LIMCH1,non_coding_transcript_exon_variant,,ENST00000512228,;	G	ENST00000313860	Transcript	missense_variant	296/6165	242/3252	81/1083	N/S	aAt/aGt		1		1	LIMCH1	HGNC	HGNC:29191	protein_coding	YES	CCDS33977.1	ENSP00000316891	Q9UPQ0		UPI0000D61554	NM_014988.3	deleterious(0)		4/27		PROSITE_profiles:PS50021,hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF3,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576,Prints_domain:PR00888																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	41598924	41598924	A	G	1	0	0	0	0	1	0	0	0	8705	115	4	5		5	LIMCH1	4	41598924	Missense_Mutation	SNP	A	C3N-02089_TP	2801816	41598924	148615631	248	29045											
TXK	0	.	GRCh38	chr4	48076431	48076431	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaagtctgaaatttttacTatgcatgttgaactgaccaa	14	13	6	8	0	1	3	0	3	1	0	1	3	1	3	2	0	3	2	2	0	6	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1209A>C	p.=	p.I403I	ENST00000264316	12/15	177	151	26	168	168	0	strelka-varscan-mutect	TXK,synonymous_variant,p.=,ENST00000264316,NM_003328.2;TXK,synonymous_variant,p.=,ENST00000507351,;TXK,synonymous_variant,p.=,ENST00000514937,;TXK,intron_variant,,ENST00000509681,;	G	ENST00000264316	Transcript	synonymous_variant	1295/2914	1209/1584	403/527	I	atA/atC		1		-1	TXK	HGNC	HGNC:12434	protein_coding	YES	CCDS3480.1	ENSP00000264316	P42681		UPI000013D4F9	NM_003328.2			12/15		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF247,SMART_domains:SM00219,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	90	48076431	48076431	T	G	1	0	0	0	0	0	0	0	1	17302	1512	53	5		5	TXK	4	48076431	Silent	SNP	T	C3N-02089_TP	6477507	48076431	142138124	249	29046											
CWH43	0	.	GRCh38	chr4	49017326	49017326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagagaaaactgggcaaaGtggtaagtaattaaaaacct	19	8	10	4	0	0	2	0	1	0	1	0	3	0	2	1	2	2	3	1	2	8	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1264G>A	p.Val422Met	p.V422M	ENST00000226432	9/16	131	123	8	88	88	0	strelka-varscan-mutect	CWH43,missense_variant,p.Val422Met,ENST00000226432,NM_025087.2;CWH43,missense_variant,p.Val395Met,ENST00000513409,NM_001286791.1;CWH43,splice_region_variant,,ENST00000514053,;CWH43,non_coding_transcript_exon_variant,,ENST00000506221,;TPI1P4,upstream_gene_variant,,ENST00000513630,;	A	ENST00000226432	Transcript	missense_variant,splice_region_variant	1447/2472	1264/2100	422/699	V/M	Gtg/Atg		1		1	CWH43	HGNC	HGNC:26133	protein_coding	YES	CCDS3486.1	ENSP00000226432	Q9H720		UPI000020BC89	NM_025087.2	tolerated(0.27)		9/16		hmmpanther:PTHR14859,hmmpanther:PTHR14859:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	49017326	49017326	G	A	1	0	0	0	0	1	0	0	0	3883	1043	36	3		3	CWH43	4	49017326	Missense_Mutation	SNP	G	C3N-02089_TP	940895	49017326	141197229	250	29047											
PDGFRA	0	.	GRCh38	chr4	54278459	54278459	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagccaccacccagagaaGccaaagaaagagctggatat	16	4	10	11	0	0	4	0	1	0	3	0	6	0	5	4	1	3	1	4	1	4	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2100G>C	p.Lys700Asn	p.K700N	ENST00000257290	15/23	183	134	49	176	176	0	strelka-varscan-mutect	PDGFRA,missense_variant,p.Lys700Asn,ENST00000257290,NM_006206.4;RP11-231C18.3,missense_variant,p.Lys460Asn,ENST00000507166,;PDGFRA,missense_variant,p.Lys700Asn,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000507536,;PDGFRA,downstream_gene_variant,,ENST00000461294,;	C	ENST00000257290	Transcript	missense_variant	2431/6576	2100/3270	700/1089	K/N	aaG/aaC		1		1	PDGFRA	HGNC	HGNC:8803	protein_coding	YES	CCDS3495.1	ENSP00000257290	P16234		UPI0000131793	NM_006206.4	deleterious(0)		15/23		PROSITE_profiles:PS50011,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615,Pfam_domain:PF07714,SMART_domains:SM00220,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	54278459	54278459	G	C	1	0	0	0	0	1	0	0	0	11749	962	34	4		4	PDGFRA	4	54278459	Missense_Mutation	SNP	G	C3N-02089_TP	5261133	54278459	135936096	251	29048											
TECRL	0	.	GRCh38	chr4	64322688	64322688	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatttcaaattaacacttaCtgtggtccaactgacttgtt	12	15	5	9	0	1	1	1	1	0	0	2	1	2	1	1	1	3	1	1	1	4	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.435+1G>T		p.X145_splice	ENST00000381210		77	55	22	125	125	0	strelka-varscan-mutect	TECRL,splice_donor_variant,,ENST00000381210,NM_001010874.4;TECRL,splice_donor_variant,,ENST00000507440,;TECRL,incomplete_terminal_codon_variant,p.=,ENST00000509536,;TECRL,splice_donor_variant,,ENST00000513125,;TECRL,splice_donor_variant,,ENST00000511356,;	A	ENST00000381210	Transcript	splice_donor_variant	-/3573	435/1092	145/363				1		-1	TECRL	HGNC	HGNC:27365	protein_coding	YES	CCDS33990.1	ENSP00000370607	Q5HYJ1		UPI0000141A54	NM_001010874.4				4/11																		HIGH	1	SNV	1			1										PASS		rs752358370	.												A	5	1	90	64322688	64322688	C	A	1	0	0	0	0	0	0	1	0	16157	579	20	2		2	TECRL	4	64322688	Splice_Site	SNP	C	C3N-02089_TP	10044229	64322688	125891867	252	29049											
EPHA5	0	.	GRCh38	chr4	65348082	65348082	+	Missense_Mutation	SNP	C	C	A																															tggtcatctcccagtagggtCtctctccataagacacaact																								rs745908821		C3N-02089_TP	C3N-02089_NB	C	C																c.2633G>T	p.Arg878Ile	p.R878I	ENST00000622150	15/18	69	53	16	91	91	0	strelka-varscan-mutect	EPHA5,missense_variant,p.Arg878Ile,ENST00000622150,NM_001281765.1;EPHA5,missense_variant,p.Arg856Ile,ENST00000613740,NM_001281766.1;EPHA5,missense_variant,p.Arg877Ile,ENST00000273854,NM_004439.6;EPHA5,missense_variant,p.Arg878Ile,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Arg714Ile,ENST00000432638,;EPHA5,missense_variant,p.Arg855Ile,ENST00000354839,NM_182472.3;	A	ENST00000622150	Transcript	missense_variant	3386/8421	2633/3117	878/1038	R/I	aGa/aTa	rs745908821	1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1	deleterious(0)		15/18		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000666,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs745908821	.												A	3	1	90	65348082	65348082	C	A	1	0	0	0	0	1	0	0	0	5017	913	32	2		2	EPHA5	4	65348082	Missense_Mutation	SNP	C	C3N-02089_TP	1025394	65348082	124866473	253	29050	606	2									
EPHA5	0	.	GRCh38	chr4	65348083	65348083	+	Nonsense_Mutation	SNP	T	T	A																															ggtcatctcccagtagggtcTctctccataagacacaactt																								novel		C3N-02089_TP	C3N-02089_NB	T	T																c.2632A>T	p.Arg878Ter	p.R878*	ENST00000622150	15/18	69	62	7	93	93	0	strelka-varscan-mutect	EPHA5,stop_gained,p.Arg878Ter,ENST00000622150,NM_001281765.1;EPHA5,stop_gained,p.Arg856Ter,ENST00000613740,NM_001281766.1;EPHA5,stop_gained,p.Arg877Ter,ENST00000273854,NM_004439.6;EPHA5,stop_gained,p.Arg878Ter,ENST00000511294,NM_001281767.1;EPHA5,stop_gained,p.Arg714Ter,ENST00000432638,;EPHA5,stop_gained,p.Arg855Ter,ENST00000354839,NM_182472.3;	A	ENST00000622150	Transcript	stop_gained	3385/8421	2632/3117	878/1038	R/*	Aga/Tga		1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1			15/18		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000666,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17,SMART_domains:SM00219,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	90	65348083	65348083	T	A	1	0	0	0	0	0	1	0	0	5017	1559	54	4		4	EPHA5	4	65348083	Nonsense_Mutation	SNP	T	C3N-02089_TP	1	65348083	124866472	254	29051	606	2									
UBA6	0	.	GRCh38	chr4	67635480	67635480	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaagactcagtcaaatgCggtacaataacttcagtgtg	13	12	9	7	1	3	1	3	0	0	1	3	1	3	1	0	1	3	2	0	1	5	5	rs139389373		C3N-02089_TP	C3N-02089_NB	C	C																c.1815G>C	p.=	p.P605P	ENST00000322244	20/33	152	109	43	195	195	0	strelka-varscan-mutect	UBA6,synonymous_variant,p.=,ENST00000322244,NM_018227.5;UBA6,synonymous_variant,p.=,ENST00000505673,;RP11-17P16.2,upstream_gene_variant,,ENST00000604441,;	G	ENST00000322244	Transcript	synonymous_variant	1875/9564	1815/3159	605/1052	P	ccG/ccC	rs139389373	1		-1	UBA6	HGNC	HGNC:25581	protein_coding	YES	CCDS3516.1	ENSP00000313454	A0AVT1	A0A024RDB0	UPI000004A4F7	NM_018227.5			20/33		hmmpanther:PTHR10953:SF141,hmmpanther:PTHR10953,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01408,Pfam_domain:PF00899,Superfamily_domains:SSF69572																	LOW	1	SNV	1			1										PASS		rs139389373	.												G	2	3	90	67635480	67635480	C	G	1	0	0	0	0	0	0	0	1	17351	755	27	4		4	UBA6	4	67635480	Silent	SNP	C	C3N-02089_TP	2287397	67635480	122579075	255	29052											
GNRHR	0	.	GRCh38	chr4	67740536	67740536	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatgggtttaaaaaggcaaAgagaaagaagaagtgattta	19	8	12	2	0	0	4	0	1	0	3	0	5	0	4	0	2	0	3	0	2	8	4			C3N-02089_TP	C3N-02089_NB	A	A																c.931T>C	p.Phe311Leu	p.F311L	ENST00000226413	3/3	153	100	53	215	215	0	strelka-varscan-mutect	GNRHR,missense_variant,p.Phe311Leu,ENST00000226413,NM_000406.2;GNRHR,3_prime_UTR_variant,,ENST00000420975,NM_001012763.1;UBA6-AS1,intron_variant,,ENST00000500538,;UBA6-AS1,intron_variant,,ENST00000502758,;	G	ENST00000226413	Transcript	missense_variant	956/2164	931/987	311/328	F/L	Ttt/Ctt	COSM5433779	1		-1	GNRHR	HGNC	HGNC:4421	protein_coding	YES	CCDS3517.1	ENSP00000226413	P30968		UPI000004EEC8	NM_000406.2	deleterious(0)		3/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF22,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	90	67740536	67740536	A	G	1	0	0	0	0	1	0	0	0	6428	72	3	5		5	GNRHR	4	67740536	Missense_Mutation	SNP	A	C3N-02089_TP	105056	67740536	122474019	256	29053											
TMPRSS11A	0	.	GRCh38	chr4	67924148	67924148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcttggacagttaactccCctgttgatgagctcattgct	7	15	9	10	0	1	2	1	2	0	0	2	3	2	3	2	1	4	5	2	1	1	5	rs144009146		C3N-02089_TP	C3N-02089_NB	C	C																c.509G>A	p.Gly170Glu	p.G170E	ENST00000334830	6/10	178	141	37	285	285	0	strelka-varscan-mutect	TMPRSS11A,missense_variant,p.Gly167Glu,ENST00000508048,NM_001114387.1;TMPRSS11A,missense_variant,p.Gly170Glu,ENST00000334830,NM_182606.3;TMPRSS11A,intron_variant,,ENST00000513536,;UBA6-AS1,intron_variant,,ENST00000500538,;	T	ENST00000334830	Transcript	missense_variant	1256/3054	509/1266	170/421	G/E	gGg/gAg	rs144009146	1		-1	TMPRSS11A	HGNC	HGNC:27954	protein_coding	YES	CCDS3519.1	ENSP00000334611		A0A0A0MR82	UPI0000457217	NM_182606.3	deleterious(0)		6/10		PIRSF_domain:PIRSF037941,Superfamily_domains:SSF50494																	MODERATE		SNV	2			1										PASS		rs144009146	.												T	3	4	90	67924148	67924148	C	T	1	0	0	0	0	1	0	0	0	16715	623	22	3		3	TMPRSS11A	4	67924148	Missense_Mutation	SNP	C	C3N-02089_TP	183612	67924148	122290407	257	29054											
YTHDC1	0	.	GRCh38	chr4	68337067	68337067	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatctgacagacccatcTgtgaaggaaacagattcaga	15	7	9	10	0	3	6	1	2	2	4	3	7	3	7	2	1	1	0	2	1	2	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.843A>G	p.=	p.T281T	ENST00000344157	4/17	93	63	30	105	105	0	strelka-varscan-mutect	YTHDC1,synonymous_variant,p.=,ENST00000344157,NM_001031732.2;YTHDC1,synonymous_variant,p.=,ENST00000355665,NM_133370.2;YTHDC1,synonymous_variant,p.=,ENST00000579690,;YTHDC1,downstream_gene_variant,,ENST00000510746,;YTHDC1,downstream_gene_variant,,ENST00000505251,;	C	ENST00000344157	Transcript	synonymous_variant	1179/6232	843/2184	281/727	T	acA/acG		1		-1	YTHDC1	HGNC	HGNC:30626	protein_coding	YES	CCDS33992.1	ENSP00000339245	Q96MU7		UPI000020B86D	NM_001031732.2			4/17		hmmpanther:PTHR12357,hmmpanther:PTHR12357:SF33																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	68337067	68337067	T	C	1	0	0	0	0	0	0	0	1	18057	1567	55	5		5	YTHDC1	4	68337067	Silent	SNP	T	C3N-02089_TP	412919	68337067	121877488	258	29055											
ANKRD17	0	.	GRCh38	chr4	73085441	73085441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatggcgagtccatattgaCaatacctataatgtagaagg	15	11	9	6	1	0	2	0	1	0	1	1	3	1	2	2	2	1	1	2	2	8	7	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.6967G>T	p.Val2323Phe	p.V2323F	ENST00000358602	30/34	129	109	20	149	149	0	strelka-varscan-mutect	ANKRD17,missense_variant,p.Val2323Phe,ENST00000358602,NM_015574.1,NM_032217.3;ANKRD17,missense_variant,p.Val2207Phe,ENST00000558247,;ANKRD17,missense_variant,p.Val2210Phe,ENST00000509867,NM_001286771.1;ANKRD17,missense_variant,p.Val2072Phe,ENST00000330838,NM_198889.1;ANKRD17,upstream_gene_variant,,ENST00000510127,;	A	ENST00000358602	Transcript	missense_variant	7084/10784	6967/7812	2323/2603	V/F	Gtc/Ttc		1		-1	ANKRD17	HGNC	HGNC:23575	protein_coding	YES	CCDS34004.1	ENSP00000351416	O75179		UPI00002263B0	NM_015574.1,NM_032217.3	deleterious_low_confidence(0.04)		30/34		hmmpanther:PTHR23206,hmmpanther:PTHR23206:SF1																	MODERATE	1	SNV	5			1										PASS		rs1243065828	.												A	3	1	90	73085441	73085441	C	A	1	0	0	0	0	1	0	0	0	747	492	17	2		2	ANKRD17	4	73085441	Missense_Mutation	SNP	C	C3N-02089_TP	4748374	73085441	117129114	259	29056											
MMRN1	0	.	GRCh38	chr4	89909301	89909302	+	Frame_Shift_Ins	INS	-	-	G																															gtgtgcttatgtacataccaINSggttatctcccacagtgata																								novel		C3N-02089_TP	C3N-02089_NB	-	-																c.651dupG	p.Leu218ValfsTer41	p.L218Vfs*41	ENST00000394980	3/9	109	80	29	115	115	0	sindel-varindel-pindel	MMRN1,frameshift_variant,p.Leu218ValfsTer41,ENST00000394980,;MMRN1,frameshift_variant,p.Leu218ValfsTer41,ENST00000264790,NM_007351.2;MMRN1,5_prime_UTR_variant,,ENST00000508372,;	G	ENST00000394980	Transcript	frameshift_variant	968-969/5217	649-650/3687	217/1228	R/RX	agg/aGgg		1		1	MMRN1	HGNC	HGNC:7178	protein_coding	YES	CCDS3635.1	ENSP00000378431	Q13201		UPI000013D570				3/9		Pfam_domain:PF07546,PROSITE_profiles:PS51041,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF3																	HIGH	1	insertion	5	2		1										PASS		.	.												G	7	5	90	89909301	89909301	-	G	1	0	1	1	0	0	0	0	0	9633	179	7	0		0	MMRN1	4	89909301	Frame_Shift_Ins	INS	-	C3N-02089_TP	16823860	89909301	100305254	260	29057											
EIF4E	0	.	GRCh38	chr4	98885014	98885014	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acattaacaacagcgccacaTacatcatcactgtagtcatc	15	9	4	13	1	3	0	3	0	0	0	4	0	3	0	1	0	4	1	1	0	4	3	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.540A>G	p.=	p.V180V	ENST00000505992	7/8	216	161	55	243	242	1	strelka-varscan-mutect	EIF4E,synonymous_variant,p.=,ENST00000450253,NM_001968.3;EIF4E,synonymous_variant,p.=,ENST00000504432,;EIF4E,synonymous_variant,p.=,ENST00000280892,NM_001130678.1;EIF4E,synonymous_variant,p.=,ENST00000505992,NM_001130679.1;EIF4E,intron_variant,,ENST00000511644,;EIF4E,non_coding_transcript_exon_variant,,ENST00000505194,;EIF4E,3_prime_UTR_variant,,ENST00000515638,;EIF4E,downstream_gene_variant,,ENST00000507665,;EIF4E,downstream_gene_variant,,ENST00000505829,;	C	ENST00000505992	Transcript	synonymous_variant	561/898	540/747	180/248	V	gtA/gtG		1		-1	EIF4E	HGNC	HGNC:3287	protein_coding	YES	CCDS54779.1	ENSP00000425561	P06730		UPI00017BAF0A	NM_001130679.1			7/8		hmmpanther:PTHR11960:SF14,hmmpanther:PTHR11960,Pfam_domain:PF01652,Gene3D:3.30.760.10,Superfamily_domains:SSF55418																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	90	98885014	98885014	T	C	1	0	0	0	0	0	0	0	1	4862	1393	49	5		5	EIF4E	4	98885014	Silent	SNP	T	C3N-02089_TP	8975713	98885014	91329541	261	29058											
MTTP	0	.	GRCh38	chr4	99612978	99612978	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgacgagggggaggagaaCcttgactcctatgctggtat	9	9	14	9	1	0	3	0	2	0	1	1	6	1	4	3	4	2	2	3	4	3	3	rs374643434		C3N-02089_TP	C3N-02089_NB	C	C																c.2136C>G	p.Asn712Lys	p.N712K	ENST00000511045	15/18	346	254	92	404	404	0	strelka-varscan-mutect	MTTP,missense_variant,p.Asn685Lys,ENST00000457717,NM_000253.3;MTTP,missense_variant,p.Asn685Lys,ENST00000265517,;MTTP,missense_variant,p.Asn712Lys,ENST00000511045,NM_001300785.1;RP11-766F14.1,intron_variant,,ENST00000508578,;	G	ENST00000511045	Transcript	missense_variant	2149/3154	2136/2766	712/921	N/K	aaC/aaG	rs374643434	1		1	MTTP	HGNC	HGNC:7467	protein_coding	YES	CCDS75169.1	ENSP00000427679		E9PBP6	UPI0001D3B6EF	NM_001300785.1	tolerated(0.08)		15/18		hmmpanther:PTHR13024,hmmpanther:PTHR13024:SF1																	MODERATE	1	SNV	2			1										PASS		rs374643434	.												G	3	3	90	99612978	99612978	C	G	1	0	0	0	0	1	0	0	0	9961	506	18	4		4	MTTP	4	99612978	Missense_Mutation	SNP	C	C3N-02089_TP	727964	99612978	90601577	262	29059											
EMCN	0	.	GRCh38	chr4	100421316	100421316	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacattcggtacaaaccCaccagaacaaatactgaaag	18	5	6	12	1	0	2	0	1	0	1	1	2	0	2	2	1	5	2	2	1	6	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.630G>T	p.=	p.V210V	ENST00000296420	8/12	299	232	67	314	314	0	strelka-varscan-mutect	EMCN,synonymous_variant,p.=,ENST00000296420,NM_016242.3;EMCN,synonymous_variant,p.=,ENST00000511970,NM_001159694.1;EMCN,synonymous_variant,p.=,ENST00000502569,;EMCN,intron_variant,,ENST00000305864,;EMCN,intron_variant,,ENST00000506300,;	A	ENST00000296420	Transcript	synonymous_variant	809/4037	630/786	210/261	V	gtG/gtT		1		-1	EMCN	HGNC	HGNC:16041	protein_coding	YES	CCDS3655.1	ENSP00000296420	Q9ULC0	Q4W5J1	UPI000003777D	NM_016242.3			8/12		Pfam_domain:PF07010,hmmpanther:PTHR15869,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	100421316	100421316	C	A	1	0	0	0	0	0	0	0	1	4930	581	21	2		2	EMCN	4	100421316	Silent	SNP	C	C3N-02089_TP	808338	100421316	89793239	263	29060											
ETNPPL	0	.	GRCh38	chr4	108748090	108748090	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactctcttggcatttccttGaaggtcttcattttcaatta	8	19	5	9	0	4	1	2	1	2	0	6	1	5	1	1	2	1	1	1	2	4	8	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.997C>T	p.Gln333Ter	p.Q333*	ENST00000296486	9/13	151	114	37	210	210	0	strelka-varscan-mutect	ETNPPL,stop_gained,p.Gln333Ter,ENST00000296486,NM_031279.3;ETNPPL,stop_gained,p.Gln327Ter,ENST00000411864,NM_001146590.1;ETNPPL,stop_gained,p.Gln293Ter,ENST00000510706,;ETNPPL,stop_gained,p.Gln275Ter,ENST00000512646,NM_001146627.1;ETNPPL,non_coding_transcript_exon_variant,,ENST00000503912,;ETNPPL,downstream_gene_variant,,ENST00000505233,;ETNPPL,downstream_gene_variant,,ENST00000509402,;ETNPPL,downstream_gene_variant,,ENST00000511923,;	A	ENST00000296486	Transcript	stop_gained	1152/2099	997/1500	333/499	Q/*	Caa/Taa		1		-1	ETNPPL	HGNC	HGNC:14404	protein_coding	YES	CCDS3682.1	ENSP00000296486	Q8TBG4		UPI000004B638	NM_031279.3			9/13		hmmpanther:PTHR11986:SF63,hmmpanther:PTHR11986,Gene3D:3.90.1150.10,Pfam_domain:PF00202,Superfamily_domains:SSF53383																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	90	108748090	108748090	G	A	1	0	0	0	0	0	1	0	0	5138	1299	45	3		3	ETNPPL	4	108748090	Nonsense_Mutation	SNP	G	C3N-02089_TP	8326774	108748090	81466465	264	29061											
PCDH18	0	.	GRCh38	chr4	137521223	137521223	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actggagtgagttccaagtgGcggcccacagttggtggtgg	7	9	17	8	1	0	1	0	1	0	0	1	2	1	2	2	6	0	2	2	6	1	2	rs138873003		C3N-02089_TP	C3N-02089_NB	G	G																c.3214C>G	p.Pro1072Ala	p.P1072A	ENST00000344876	4/4	87	63	24	102	102	0	strelka-varscan-mutect	PCDH18,missense_variant,p.Pro1072Ala,ENST00000344876,NM_019035.4;PCDH18,missense_variant,p.Pro1071Ala,ENST00000412923,NM_001300828.1;PCDH18,missense_variant,p.Pro851Ala,ENST00000507846,;PCDH18,missense_variant,p.Pro283Ala,ENST00000510305,;PCDH18,missense_variant,p.Pro252Ala,ENST00000511115,;PCDH18,downstream_gene_variant,,ENST00000611581,;PCDH18,downstream_gene_variant,,ENST00000620262,;	C	ENST00000344876	Transcript	missense_variant	3601/5906	3214/3408	1072/1135	P/A	Cca/Gca	rs138873003	1		-1	PCDH18	HGNC	HGNC:14268	protein_coding	YES	CCDS34064.1	ENSP00000355082	Q9HCL0		UPI0000047A88	NM_019035.4	tolerated(0.45)		4/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9																	MODERATE	1	SNV	1			1										PASS		rs138873003	.												C	3	2	90	137521223	137521223	G	C	1	0	0	0	0	1	0	0	0	11600	1203	42	4		4	PCDH18	4	137521223	Missense_Mutation	SNP	G	C3N-02089_TP	28773133	137521223	52693332	265	29062											
MAML3	0	.	GRCh38	chr4	139890098	139890098	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacgctgaaccggccacTgtcactgctgccggattcag	7	8	11	15	3	2	2	2	2	0	0	2	3	2	3	4	2	3	2	4	2	1	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1338A>T	p.=	p.T446T	ENST00000509479	2/5	246	182	64	227	227	0	strelka-varscan-mutect	MAML3,synonymous_variant,p.=,ENST00000509479,NM_018717.4;MAML3,intron_variant,,ENST00000502696,;MAML3,upstream_gene_variant,,ENST00000398940,;	A	ENST00000509479	Transcript	synonymous_variant	2195/6844	1338/3417	446/1138	T	acA/acT		1		-1	MAML3	HGNC	HGNC:16272	protein_coding	YES	CCDS54805.1	ENSP00000421180	Q96JK9		UPI00001C1E1E	NM_018717.4			2/5		hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF8																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	139890098	139890098	T	A	1	0	0	0	0	0	0	0	1	9128	1567	55	4		4	MAML3	4	139890098	Silent	SNP	T	C3N-02089_TP	2368875	139890098	50324457	266	29063											
C4orf51	0	.	GRCh38	chr4	145726957	145726957	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaaagtcatttgatgtCaagcatggagtggtaagccc	13	12	10	6	0	2	1	2	1	0	0	2	2	2	2	1	2	2	2	1	2	5	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.354C>A	p.=	p.V118V	ENST00000438731	3/6	115	85	30	144	144	0	strelka-varscan	C4orf51,synonymous_variant,p.=,ENST00000438731,NM_001080531.1;	A	ENST00000438731	Transcript	synonymous_variant	443/932	354/609	118/202	V	gtC/gtA		1		1	C4orf51	HGNC	HGNC:37264	protein_coding	YES	CCDS47140.1	ENSP00000391404	C9J302		UPI0000DD7C19	NM_001080531.1			3/6		Pfam_domain:PF15849																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	90	145726957	145726957	C	A	1	0	0	0	0	0	0	0	1	2090	813	29	2		2	C4orf51	4	145726957	Silent	SNP	C	C3N-02089_TP	5836859	145726957	44487598	267	29064											
FAM160A1	0	.	GRCh38	chr4	151577474	151577474	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgaaaatcttggagaagcacGaccccttgaagaacacccag	15	6	9	11	1	1	4	0	2	1	2	1	6	1	4	3	1	2	1	3	1	5	2			C3N-02089_TP	C3N-02089_NB	G	G																c.130G>C	p.Asp44His	p.D44H	ENST00000435205	5/14	70	64	6	79	79	0	strelka-varscan	FAM160A1,missense_variant,p.Asp44His,ENST00000435205,NM_001109977.1;FAM160A1,missense_variant,p.Asp44His,ENST00000505231,;FAM160A1,missense_variant,p.Asp44His,ENST00000512597,;FAM160A1,downstream_gene_variant,,ENST00000503146,;FAM160A1,downstream_gene_variant,,ENST00000513962,;RN7SKP35,downstream_gene_variant,,ENST00000517210,;	C	ENST00000435205	Transcript	missense_variant	705/4576	130/3123	44/1040	D/H	Gac/Cac	COSM1052068,COSM1594374,COSM1594375	1		1	FAM160A1	HGNC	HGNC:34237	protein_coding	YES	CCDS47146.1	ENSP00000413196	Q05DH4		UPI00015DE720	NM_001109977.1	deleterious(0)		5/14		hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF6											1,1,1						MODERATE	1	SNV	5		1,1,1	1										PASS		.	.												C	3	2	90	151577474	151577474	G	C	1	0	0	0	0	1	0	0	0	5317	1058	37	4		4	FAM160A1	4	151577474	Missense_Mutation	SNP	G	C3N-02089_TP	5850517	151577474	38637081	268	29065											
RBM46	0	.	GRCh38	chr4	154799055	154799055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaatggaaaatgcattgatgGagcaagtattgaggtaacac	16	9	12	4	0	0	2	0	2	0	0	0	5	0	4	0	3	3	4	0	3	6	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.893G>T	p.Gly298Val	p.G298V	ENST00000281722	4/5	296	214	82	346	346	0	strelka-varscan	RBM46,missense_variant,p.Gly298Val,ENST00000510397,NM_001277173.1;RBM46,missense_variant,p.Gly298Val,ENST00000281722,NM_144979.4;RBM46,missense_variant,p.Gly298Val,ENST00000514866,NM_001277171.1;RBM46,downstream_gene_variant,,ENST00000512640,;	T	ENST00000281722	Transcript	missense_variant	1128/2583	893/1602	298/533	G/V	gGa/gTa		1		1	RBM46	HGNC	HGNC:28401	protein_coding	YES	CCDS3790.1	ENSP00000281722	Q8TBY0		UPI000007173F	NM_144979.4	deleterious(0)		4/5		PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF272,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01648,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	154799055	154799055	G	T	1	0	0	0	0	1	0	0	0	13306	1174	41	2		2	RBM46	4	154799055	Missense_Mutation	SNP	G	C3N-02089_TP	3221581	154799055	35415500	269	29066											
ADAM29	0	.	GRCh38	chr4	174977485	174977485	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggaccctcccaactgcCtgataaaaggctatggaggt	10	9	12	10	0	0	1	0	1	0	0	1	3	1	3	3	4	2	1	3	4	4	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1960C>G	p.Leu654Val	p.L654V	ENST00000615367	6/6	171	120	51	204	204	0	strelka-varscan	ADAM29,missense_variant,p.Leu654Val,ENST00000615367,NM_001278125.1;ADAM29,missense_variant,p.Leu654Val,ENST00000359240,NM_014269.4,NM_001278126.1;ADAM29,missense_variant,p.Leu654Val,ENST00000445694,NM_001130703.1;ADAM29,missense_variant,p.Leu654Val,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Leu654Val,ENST00000514159,NM_001130705.1;ADAM29,missense_variant,p.Leu654Val,ENST00000618444,NM_001278127.1;ADAM29,downstream_gene_variant,,ENST00000502305,;ADAM29,downstream_gene_variant,,ENST00000505141,;ADAM29,downstream_gene_variant,,ENST00000502940,;RP13-577H12.2,downstream_gene_variant,,ENST00000507525,;ADAM29,downstream_gene_variant,,ENST00000515538,;	G	ENST00000615367	Transcript	missense_variant	2691/3386	1960/2463	654/820	L/V	Ctg/Gtg		1		1	ADAM29	HGNC	HGNC:207	protein_coding	YES	CCDS3823.1	ENSP00000484862	Q9UKF5	A0A140VJD8	UPI000013E9DE	NM_001278125.1	tolerated(0.27)		6/6		hmmpanther:PTHR11905:SF34,hmmpanther:PTHR11905																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	90	174977485	174977485	C	G	1	0	0	0	0	1	0	0	0	291	680	24	4		4	ADAM29	4	174977485	Missense_Mutation	SNP	C	C3N-02089_TP	20178430	174977485	15237070	270	29067											
TENM3	0	.	GRCh38	chr4	182754807	182754807	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctccctggctgcttcTccagatggtacactgtatat	7	13	7	14	0	1	1	0	0	1	1	4	1	3	1	4	2	2	4	4	2	3	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.4440T>A	p.=	p.S1480S	ENST00000511685	22/28	237	165	72	248	248	0	strelka-varscan	TENM3,synonymous_variant,p.=,ENST00000511685,NM_001080477.2;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;	A	ENST00000511685	Transcript	synonymous_variant	4563/10896	4440/8100	1480/2699	S	tcT/tcA		1		1	TENM3	HGNC	HGNC:29944	protein_coding	YES	CCDS47165.1	ENSP00000424226	Q9P273	A0A140VJW8	UPI00006C0820	NM_001080477.2			22/28		Gene3D:2.120.10.30,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,Low_complexity_(Seg):seg,Superfamily_domains:SSF101898,Superfamily_domains:SSF50978																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	90	182754807	182754807	T	A	1	0	0	0	0	0	0	0	1	16173	1538	54	4		4	TENM3	4	182754807	Silent	SNP	T	C3N-02089_TP	7777322	182754807	7459748	271	29068											
FAT1	0	.	GRCh38	chr4	186708199	186708199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccggcggtacggcaagccCcagtctgatgcacgaatcct	8	7	11	15	4	1	1	0	1	1	0	3	2	3	1	4	3	3	3	4	3	3	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1629G>T	p.Trp543Cys	p.W543C	ENST00000441802	2/27	164	119	45	206	206	0	strelka-varscan	FAT1,missense_variant,p.Trp543Cys,ENST00000441802,NM_005245.3;FAT1,missense_variant,p.Trp543Cys,ENST00000614102,;FAT1,downstream_gene_variant,,ENST00000509647,;	A	ENST00000441802	Transcript	missense_variant	1839/14786	1629/13767	543/4588	W/C	tgG/tgT		1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3	deleterious(0)		2/27		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	186708199	186708199	C	A	1	0	0	0	0	1	0	0	0	5549	624	22	2		2	FAT1	4	186708199	Missense_Mutation	SNP	C	C3N-02089_TP	3953392	186708199	3506356	272	29069											
LRRC14B	0	.	GRCh38	chr5	194933	194933	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagtgtggcatcgtagacagCcacgttggcatgctgatcct	8	10	13	10	2	0	2	0	1	0	1	2	3	1	2	2	2	2	5	2	2	1	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1125C>T	p.=	p.S375S	ENST00000328278	2/2	161	140	21	119	119	0	strelka-varscan-mutect	LRRC14B,synonymous_variant,p.=,ENST00000328278,NM_001080478.1;PLEKHG4B,downstream_gene_variant,,ENST00000637938,;PLEKHG4B,downstream_gene_variant,,ENST00000283426,NM_052909.3;CCDC127,downstream_gene_variant,,ENST00000296824,NM_145265.2;CTD-2083E4.7,upstream_gene_variant,,ENST00000563761,;	T	ENST00000328278	Transcript	synonymous_variant	1153/1573	1125/1545	375/514	S	agC/agT		1		1	LRRC14B	HGNC	HGNC:37268	protein_coding	YES	CCDS47184.1	ENSP00000327675	A6NHZ5		UPI0000237324	NM_001080478.1			2/2		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF27,Gene3D:3.80.10.10,Superfamily_domains:SSF52047																	LOW		SNV	2			1										PASS		.	.												T	2	4	90	194933	194933	C	T	1	0	0	0	0	0	0	0	1	8865	738	26	3		3	LRRC14B	5	194933	Silent	SNP	C	C3N-02089_TP		194933	181343326	273	29070											
AHRR	0	.	GRCh38	chr5	422859	422859	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccccgcccttggagacagGtgggtgtctggggtccaagt	5	8	16	12	1	1	1	0	0	1	1	2	2	2	1	4	5	0	0	4	5	1	1	rs769366442		C3N-02089_TP	C3N-02089_NB	G	G																c.583+1G>T		p.X195_splice	ENST00000316418		91	76	15	83	83	0	strelka-varscan-mutect	AHRR,splice_donor_variant,,ENST00000316418,NM_020731.4;AHRR,splice_donor_variant,,ENST00000506456,;AHRR,splice_donor_variant,,ENST00000505113,NM_001242412.1;AHRR,splice_donor_variant,,ENST00000512529,;AHRR,downstream_gene_variant,,ENST00000510400,;AHRR,downstream_gene_variant,,ENST00000514523,;AHRR,splice_donor_variant,,ENST00000510910,;CTD-2228K2.1,downstream_gene_variant,,ENST00000509301,;	T	ENST00000316418	Transcript	splice_donor_variant	-/5661	583/2160	195/719			rs769366442	1		1	AHRR	HGNC	HGNC:346	protein_coding	YES	CCDS43297.1	ENSP00000323816	A9YTQ3		UPI00004572BE	NM_020731.4				6/11																		HIGH	1	SNV	1			1										PASS		rs769366442	.												T	5	4	90	422859	422859	G	T	1	0	0	0	0	0	0	1	0	494	1275	44	2		2	AHRR	5	422859	Splice_Site	SNP	G	C3N-02089_TP	227926	422859	181115400	274	29071											
ZDHHC11B	0	.	GRCh38	chr5	733833	733833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcagggagctcttggcCttgactctggtgggacagga	8	9	15	9	0	3	1	1	1	2	0	3	4	3	4	1	5	2	2	1	5	0	2	rs4429891		C3N-02089_TP	C3N-02089_NB	C	C																c.975G>A	p.=	p.K325K	ENST00000508859	8/11	138	127	11	138	137	1	varscan-mutect	ZDHHC11B,synonymous_variant,p.=,ENST00000508859,;ZDHHC11B,synonymous_variant,p.=,ENST00000382776,;ZDHHC11B,upstream_gene_variant,,ENST00000522356,;	T	ENST00000508859	Transcript	synonymous_variant	975/1631	975/1149	325/382	K	aaG/aaA	rs4429891	1		-1	ZDHHC11B	HGNC	HGNC:32962	protein_coding	YES		ENSP00000442373		F5H7P5	UPI000204A7C8				8/11																			LOW	1	SNV	5			1										PASS		rs4429891	.												T	2	4	90	733833	733833	C	T	1	0	0	0	0	0	0	0	1	18177	680	24	3		3	ZDHHC11B	5	733833	Silent	SNP	C	C3N-02089_TP	310974	733833	180804426	275	29072											
PAPD7	0	.	GRCh38	chr5	6743753	6743753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgattttagtattgaaacaGttccttctgcagagggacct	10	15	9	7	0	1	3	0	2	1	1	2	4	2	4	2	1	2	3	2	1	3	7	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.408G>T	p.Gln136His	p.Q136H	ENST00000631941	6/13	155	141	14	145	145	0	strelka-varscan-mutect	PAPD7,missense_variant,p.Gln386His,ENST00000230859,;PAPD7,missense_variant,p.Gln136His,ENST00000631941,NM_006999.4,NM_001171805.1;PAPD7,upstream_gene_variant,,ENST00000514697,;PAPD7,upstream_gene_variant,,ENST00000511764,;	T	ENST00000631941	Transcript	missense_variant	596/1902	408/1629	136/542	Q/H	caG/caT		1		1	PAPD7	HGNC	HGNC:16705	protein_coding	YES	CCDS3871.1	ENSP00000488642	Q5XG87		UPI0000071E30	NM_006999.4,NM_001171805.1	deleterious(0.02)		6/13		Gene3D:3.30.460.10,hmmpanther:PTHR23092,hmmpanther:PTHR23092:SF24,Superfamily_domains:SSF81631																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	6743753	6743753	G	T	1	0	0	0	0	1	0	0	0	11507	1020	36	2		2	PAPD7	5	6743753	Missense_Mutation	SNP	G	C3N-02089_TP	6009920	6743753	174794506	276	29073											
SEMA5A	0	.	GRCh38	chr5	9044558	9044558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggagctgctcagccccaCggcgatcatgtggaacatgt	9	8	13	11	2	2	0	2	0	0	0	2	4	2	2	2	3	4	2	2	3	1	0	rs529504980		C3N-02089_TP	C3N-02089_NB	C	C																c.2920G>A	p.Val974Met	p.V974M	ENST00000382496	22/23	252	196	56	204	203	1	strelka-varscan-mutect	SEMA5A,missense_variant,p.Val974Met,ENST00000382496,NM_003966.2;CTD-2215L10.1,intron_variant,,ENST00000506519,;	T	ENST00000382496	Transcript	missense_variant	3586/11762	2920/3225	974/1074	V/M	Gtg/Atg	rs529504980,COSM402570	1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2	deleterious(0.01)		22/23		Transmembrane_helices:TMhelix,hmmpanther:PTHR11036:SF78,hmmpanther:PTHR11036											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs529504980	.												T	3	4	90	9044558	9044558	C	T	1	0	0	0	0	1	0	0	0	14313	536	19	1		1	SEMA5A	5	9044558	Missense_Mutation	SNP	C	C3N-02089_TP	2300805	9044558	172493701	277	29074											
CCT5	0	.	GRCh38	chr5	10250039	10250039	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacccactatcgagaaactAtcagtggtaacgttttaaaa	15	10	8	8	2	1	1	1	0	0	1	2	3	1	2	1	2	2	2	1	2	6	5	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.36A>T	p.=	p.L12L	ENST00000503026	1/11	151	128	23	137	137	0	strelka-varscan-mutect	CCT5,synonymous_variant,p.=,ENST00000503026,;CCT5,5_prime_UTR_variant,,ENST00000280326,NM_012073.3;CCT5,upstream_gene_variant,,ENST00000515676,NM_001306156.1;CCT5,upstream_gene_variant,,ENST00000506600,;FAM173B,upstream_gene_variant,,ENST00000280330,;CCT5,upstream_gene_variant,,ENST00000515390,;FAM173B,upstream_gene_variant,,ENST00000511437,NM_199133.3;FAM173B,upstream_gene_variant,,ENST00000510047,NM_001258388.1;CCT5,upstream_gene_variant,,ENST00000625723,;CTD-2256P15.1,downstream_gene_variant,,ENST00000509915,;FAM173B,upstream_gene_variant,,ENST00000510052,;CCT5,upstream_gene_variant,,ENST00000423695,;FAM173B,upstream_gene_variant,,ENST00000508553,;CCT5,upstream_gene_variant,,ENST00000503454,;FAM173B,upstream_gene_variant,,ENST00000506108,;CCT5,upstream_gene_variant,,ENST00000511700,;CCT5,upstream_gene_variant,,ENST00000512975,;FAM173B,upstream_gene_variant,,ENST00000504390,;CCT5,upstream_gene_variant,,ENST00000510326,;CCT5,upstream_gene_variant,,ENST00000508451,;	T	ENST00000503026	Transcript	synonymous_variant	111/1933	36/1563	12/520	L	ctA/ctT		1		1	CCT5	HGNC	HGNC:1618	protein_coding			ENSP00000423318		E9PCA1	UPI0001D3B13A				1/11		Superfamily_domains:SSF48592																	LOW		SNV	2			1										PASS		rs994364333	.												T	2	4	90	10250039	10250039	A	T	1	0	0	0	0	0	0	0	1	2657	436	16	4		4	CCT5	5	10250039	Silent	SNP	A	C3N-02089_TP	1205481	10250039	171288220	278	29075											
CTNND2	0	.	GRCh38	chr5	11098640	11098640	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcgtgtctggatttgAgcactcagagagcagtgtga	9	11	13	8	1	2	3	1	2	1	1	3	5	3	4	1	1	3	2	1	1	0	2	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.2572T>A	p.Ser858Thr	p.S858T	ENST00000304623	15/22	282	222	60	240	240	0	strelka-varscan-mutect	CTNND2,missense_variant,p.Ser858Thr,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Ser767Thr,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.Ser521Thr,ENST00000503622,NM_001288716.1;CTNND2,5_prime_UTR_variant,,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,missense_variant,p.Ser612Thr,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	T	ENST00000304623	Transcript	missense_variant	2762/5481	2572/3678	858/1225	S/T	Tca/Aca		1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	deleterious(0)		15/22		Gene3D:1.25.10.10,Pfam_domain:PF00514,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,SMART_domains:SM00185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs1465508768	.												T	3	4	90	11098640	11098640	A	T	1	0	0	0	0	1	0	0	0	3829	304	11	4		4	CTNND2	5	11098640	Missense_Mutation	SNP	A	C3N-02089_TP	848601	11098640	170439619	279	29076											
CTNND2	0	.	GRCh38	chr5	11159614	11159614	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacgcagcacctgtgatgaAtgcagctgtattttccgatc	9	13	9	10	2	0	2	0	2	0	0	2	3	1	2	2	0	4	5	2	0	3	4	rs769382942		C3N-02089_TP	C3N-02089_NB	A	A																c.2121T>G	p.His707Gln	p.H707Q	ENST00000304623	12/22	105	91	14	92	92	0	strelka-varscan-mutect	CTNND2,missense_variant,p.His707Gln,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.His616Gln,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.His370Gln,ENST00000503622,NM_001288716.1;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,missense_variant,p.His461Gln,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	C	ENST00000304623	Transcript	missense_variant	2311/5481	2121/3678	707/1225	H/Q	caT/caG	rs769382942	1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	tolerated(0.57)		12/22		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,SMART_domains:SM00185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs769382942	.												C	3	2	90	11159614	11159614	A	C	1	0	0	0	0	1	0	0	0	3829	98	4	5		5	CTNND2	5	11159614	Missense_Mutation	SNP	A	C3N-02089_TP	60974	11159614	170378645	280	29077											
DNAH5	0	.	GRCh38	chr5	13721242	13721242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtccacgatgtacttgcGggcctgccaaaaacagtata	12	8	11	10	2	0	0	0	0	0	0	1	2	1	1	3	2	4	2	3	2	5	4	rs148349630		C3N-02089_TP	C3N-02089_NB	G	G																c.12037C>T	p.Arg4013Cys	p.R4013C	ENST00000265104	71/79	260	223	37	274	274	0	strelka-varscan-mutect	DNAH5,missense_variant,p.Arg4013Cys,ENST00000265104,NM_001369.2;	A	ENST00000265104	Transcript	missense_variant	12142/15633	12037/13875	4013/4624	R/C	Cgc/Tgc	rs148349630	1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2	deleterious(0)		71/79		hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676,Pfam_domain:PF03028																	MODERATE	1	SNV	1			1										PASS		rs148349630	.												A	3	1	90	13721242	13721242	G	A	1	0	0	0	0	1	0	0	0	4419	1130	39	1		1	DNAH5	5	13721242	Missense_Mutation	SNP	G	C3N-02089_TP	2561628	13721242	167817017	281	29078											
DNAH5	0	.	GRCh38	chr5	13770763	13770763	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acttacctgttggccagggtCcgcacctccacatgcttttc	6	12	8	15	1	0	0	0	0	0	0	3	0	2	0	5	2	2	3	5	2	1	4			C3N-02089_TP	C3N-02089_NB	C	C																c.9591G>T	p.=	p.R3197R	ENST00000265104	56/79	392	309	83	331	330	1	strelka-varscan-mutect	DNAH5,synonymous_variant,p.=,ENST00000265104,NM_001369.2;DNAH5,non_coding_transcript_exon_variant,,ENST00000504001,;	A	ENST00000265104	Transcript	synonymous_variant	9696/15633	9591/13875	3197/4624	R	cgG/cgT	COSM234626,COSM735553	1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2			56/79		hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	90	13770763	13770763	C	A	1	0	0	0	0	0	0	0	1	4419	842	30	2		2	DNAH5	5	13770763	Silent	SNP	C	C3N-02089_TP	49521	13770763	167767496	282	29079											
DNAH5	0	.	GRCh38	chr5	13922105	13922105	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagcttattcgtcctcAccttctccttcagactctcc	7	13	5	16	1	4	1	2	0	2	1	8	2	5	2	4	1	2	1	4	1	2	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.660+2T>A		p.X220_splice	ENST00000265104		490	392	98	391	390	1	strelka-varscan-mutect	DNAH5,splice_donor_variant,,ENST00000265104,NM_001369.2;DNAH5,splice_donor_variant,,ENST00000508040,;	T	ENST00000265104	Transcript	splice_donor_variant	-/15633	660/13875	220/4624				1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2				5/78																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	90	13922105	13922105	A	T	1	0	0	0	0	0	0	1	0	4419	173	6	4		4	DNAH5	5	13922105	Splice_Site	SNP	A	C3N-02089_TP	151342	13922105	167616154	283	29080											
TRIO	0	.	GRCh38	chr5	14462866	14462866	+	Frame_Shift_Del	DEL	C	C	-																															gggccgacgccgtgcccctgCcgccacccatggccatccag																										C3N-02089_TP	C3N-02089_NB	C	C																c.5609delC	p.Pro1870ArgfsTer26	p.P1870Rfs*26	ENST00000344204	36/57	118	91	27	104	104	0	sindel-varindel-pindel	TRIO,frameshift_variant,p.Pro1870ArgfsTer26,ENST00000344204,NM_007118.2;TRIO,frameshift_variant,p.Pro1603ArgfsTer26,ENST00000513206,;TRIO,upstream_gene_variant,,ENST00000620511,;TRIO,non_coding_transcript_exon_variant,,ENST00000515710,;TRIO,frameshift_variant,p.Pro1811ArgfsTer26,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;	-	ENST00000344204	Transcript	frameshift_variant	5632/11100	5608/9294	1870/3097	P/X	Ccg/cg	COSM2156630	1		1	TRIO	HGNC	HGNC:12303	protein_coding	YES	CCDS3883.1	ENSP00000339299	O75962		UPI000034ECE6	NM_007118.2			36/57		Pfam_domain:PF16609											1						HIGH	1	deletion	1	1	1	1										PASS		.	.												-	7	5	90	14462866	14462866	C	-	1	0	1	0	1	0	0	0	0	17049	739	26	0		0	TRIO	5	14462866	Frame_Shift_Del	DEL	C	C3N-02089_TP	540761	14462866	167075393	284	29081											
OTULIN	0	.	GRCh38	chr5	14681595	14681595	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgccctggctgcaggacccGgagctcatgctggtacgctg	5	7	14	15	3	1	0	1	0	0	0	1	2	1	2	3	4	4	6	3	4	1	1	rs771323670		C3N-02089_TP	C3N-02089_NB	G	G																c.456G>T	p.=	p.P152P	ENST00000284274	4/7	167	135	32	109	109	0	strelka-varscan-mutect	OTULIN,synonymous_variant,p.=,ENST00000284274,NM_138348.4;OTULIN,synonymous_variant,p.=,ENST00000506417,;OTULIN,synonymous_variant,p.=,ENST00000514913,;OTULIN,3_prime_UTR_variant,,ENST00000503023,;OTULIN,non_coding_transcript_exon_variant,,ENST00000508678,;	T	ENST00000284274	Transcript	synonymous_variant	534/7800	456/1059	152/352	P	ccG/ccT	rs771323670	1		1	OTULIN	HGNC	HGNC:25118	protein_coding	YES	CCDS43302.1	ENSP00000284274	Q96BN8		UPI0000374C00	NM_138348.4			4/7		hmmpanther:PTHR33662,hmmpanther:PTHR33662:SF2,Pfam_domain:PF16218																	LOW	1	SNV	1			1										PASS		rs771323670	.												T	2	4	90	14681595	14681595	G	T	1	0	0	0	0	0	0	0	1	11389	1103	39	1		1	OTULIN	5	14681595	Silent	SNP	G	C3N-02089_TP	218729	14681595	166856664	285	29082											
CDH12	0	.	GRCh38	chr5	21755829	21755829	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatttcttcgggtttcaatCcccgctgtgttgtctacaaa	7	15	7	12	2	3	0	1	0	2	0	5	0	4	0	3	1	1	3	3	1	3	5	rs764043124		C3N-02089_TP	C3N-02089_NB	C	C																c.1647G>A	p.=	p.G549G	ENST00000382254	14/15	150	118	32	125	125	0	strelka-varscan-mutect	CDH12,synonymous_variant,p.=,ENST00000382254,NM_004061.3;CDH12,synonymous_variant,p.=,ENST00000504376,;CDH12,synonymous_variant,p.=,ENST00000522262,;RP11-804N13.1,intron_variant,,ENST00000522350,;CDH12,non_coding_transcript_exon_variant,,ENST00000521384,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;	T	ENST00000382254	Transcript	synonymous_variant	2734/4164	1647/2385	549/794	G	ggG/ggA	rs764043124	1		-1	CDH12	HGNC	HGNC:1751	protein_coding	YES	CCDS3890.1	ENSP00000371689	P55289		UPI00000622EB	NM_004061.3			14/15		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF96,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		rs764043124	.												T	2	4	90	21755829	21755829	C	T	1	0	0	0	0	0	0	0	1	2801	842	30	3		3	CDH12	5	21755829	Silent	SNP	C	C3N-02089_TP	7074234	21755829	159782430	286	29083											
PRDM9	0	.	GRCh38	chr5	23522679	23522679	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgggccccctacatttgtaAaggacagtgcagtggacaag	12	8	12	9	0	0	0	0	0	0	0	0	2	0	2	2	3	2	2	2	3	4	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.676A>T	p.Lys226Ter	p.K226*	ENST00000296682	8/11	434	339	95	450	450	0	strelka-varscan-mutect	PRDM9,stop_gained,p.Lys226Ter,ENST00000296682,NM_020227.2;PRDM9,stop_gained,p.Lys167Ter,ENST00000635252,;	T	ENST00000296682	Transcript	stop_gained	858/3691	676/2685	226/894	K/*	Aag/Tag		1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2			8/11		hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10,Pfam_domain:PF00856																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	90	23522679	23522679	A	T	1	0	0	0	0	0	1	0	0	12595	15	1	4		4	PRDM9	5	23522679	Nonsense_Mutation	SNP	A	C3N-02089_TP	1766850	23522679	158015580	287	29084											
PRDM9	0	.	GRCh38	chr5	23526486	23526486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccaaactcttgaataaaagGacatggcagagggagatttc	15	9	10	7	0	1	3	0	1	1	2	3	5	2	4	1	3	1	1	1	3	4	3	rs755834976		C3N-02089_TP	C3N-02089_NB	G	G																c.1398G>T	p.Arg466Ser	p.R466S	ENST00000296682	11/11	426	331	95	369	369	0	strelka-varscan-mutect	PRDM9,missense_variant,p.Arg466Ser,ENST00000296682,NM_020227.2;PRDM9,missense_variant,p.Arg407Ser,ENST00000635252,;	T	ENST00000296682	Transcript	missense_variant	1580/3691	1398/2685	466/894	R/S	agG/agT	rs755834976,COSM125569,COSM4526464	1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	tolerated(0.25)		11/11		hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs755834976	.												T	3	4	90	23526486	23526486	G	T	1	0	0	0	0	1	0	0	0	12595	1165	41	2		2	PRDM9	5	23526486	Missense_Mutation	SNP	G	C3N-02089_TP	3807	23526486	158011773	288	29085											
CDH10	0	.	GRCh38	chr5	24491607	24491607	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgcagaggaggatggcGatcaaggccccagtgctgag	11	6	16	8	1	1	3	1	2	0	1	1	6	1	5	2	4	2	2	2	4	1	0	rs756815430		C3N-02089_TP	C3N-02089_NB	G	G																c.1845C>A	p.=	p.I615I	ENST00000264463	11/12	193	154	39	169	169	0	strelka-varscan-mutect	CDH10,synonymous_variant,p.=,ENST00000264463,NM_006727.3;CDH10,non_coding_transcript_exon_variant,,ENST00000502921,;CDH10,3_prime_UTR_variant,,ENST00000510477,;CDH10,non_coding_transcript_exon_variant,,ENST00000503958,;	T	ENST00000264463	Transcript	synonymous_variant	2353/3438	1845/2367	615/788	I	atC/atA	rs756815430,COSM3013940	1		-1	CDH10	HGNC	HGNC:1749	protein_coding	YES	CCDS3892.1	ENSP00000264463	Q9Y6N8	X5D8X5	UPI0000167B7B	NM_006727.3			11/12		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027											0,1						LOW	1	SNV	1		0,1	1										PASS		rs756815430	.												T	2	4	90	24491607	24491607	G	T	1	0	0	0	0	0	0	0	1	2799	1048	37	1		1	CDH10	5	24491607	Silent	SNP	G	C3N-02089_TP	965121	24491607	157046652	289	29086											
CDH6	0	.	GRCh38	chr5	31316207	31316207	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttttggtttgtgacaGataatccaaagcaaagtagt	12	16	8	5	0	1	2	0	1	1	1	2	2	2	2	1	1	1	3	1	1	4	6	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1391-1G>T		p.X464_splice	ENST00000265071		98	87	11	88	88	0	strelka-varscan-mutect	CDH6,splice_acceptor_variant,,ENST00000265071,NM_004932.3;CDH6,splice_acceptor_variant,,ENST00000514738,;CDH6,upstream_gene_variant,,ENST00000504835,;	T	ENST00000265071	Transcript	splice_acceptor_variant	-/8476	1391/2373	464/790				1		1	CDH6	HGNC	HGNC:1765	protein_coding	YES	CCDS3894.1	ENSP00000265071	P55285		UPI0000126D9B	NM_004932.3				8/11																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	90	31316207	31316207	G	T	1	0	0	0	0	0	0	1	0	2817	956	33	2		2	CDH6	5	31316207	Splice_Site	SNP	G	C3N-02089_TP	6824600	31316207	150222052	290	29087											
SUB1	0	.	GRCh38	chr5	32588578	32588578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctgacagtgaggttgaCaaaaaggtgactactgctgc	12	10	12	7	0	1	4	0	4	1	0	1	5	1	4	0	2	3	2	0	2	3	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.66C>G	p.Asp22Glu	p.D22E	ENST00000265073	2/5	91	82	9	102	102	0	strelka-varscan-mutect	SUB1,missense_variant,p.Asp22Glu,ENST00000265073,NM_006713.3;SUB1,missense_variant,p.Asp22Glu,ENST00000506237,;SUB1,missense_variant,p.Asp22Glu,ENST00000515355,;SUB1,missense_variant,p.Asp22Glu,ENST00000512913,;SUB1,missense_variant,p.Asp22Glu,ENST00000510442,;SUB1,missense_variant,p.Asp22Glu,ENST00000502897,;SUB1,non_coding_transcript_exon_variant,,ENST00000504016,;SUB1,intron_variant,,ENST00000504789,;SUB1,intron_variant,,ENST00000513013,;SUB1,missense_variant,p.Asp22Glu,ENST00000511615,;SUB1,non_coding_transcript_exon_variant,,ENST00000511988,;SUB1,upstream_gene_variant,,ENST00000511175,;	G	ENST00000265073	Transcript	missense_variant	194/3507	66/384	22/127	D/E	gaC/gaG		1		1	SUB1	HGNC	HGNC:19985	protein_coding	YES	CCDS3897.1	ENSP00000265073	P53999	Q6IBA2	UPI0000044938	NM_006713.3	tolerated(0.71)		2/5		Low_complexity_(Seg):seg,hmmpanther:PTHR13215:SF7,hmmpanther:PTHR13215																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	32588578	32588578	C	G	1	0	0	0	0	1	0	0	0	15746	477	17	4		4	SUB1	5	32588578	Missense_Mutation	SNP	C	C3N-02089_TP	1272371	32588578	148949681	291	29088											
ADAMTS12	0	.	GRCh38	chr5	33881227	33881227	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagccatcatcttaacatgGgagaggttcccatatctctt	11	12	8	10	0	3	1	1	0	2	1	5	3	4	1	2	2	2	1	2	2	3	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.381C>A	p.=	p.S127S	ENST00000504830	2/24	336	251	85	333	333	0	strelka-varscan-mutect	ADAMTS12,synonymous_variant,p.=,ENST00000504830,NM_030955.2;ADAMTS12,synonymous_variant,p.=,ENST00000352040,;ADAMTS12,synonymous_variant,p.=,ENST00000515401,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000509762,;	T	ENST00000504830	Transcript	synonymous_variant	717/8774	381/4785	127/1594	S	tcC/tcA		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2			2/24		Pfam_domain:PF01562,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	33881227	33881227	G	T	1	0	0	0	0	0	0	0	1	301	1219	43	2		2	ADAMTS12	5	33881227	Silent	SNP	G	C3N-02089_TP	1292649	33881227	147657032	292	29089											
SPEF2	0	.	GRCh38	chr5	35793212	35793212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccgagttcgtggactggcgGaagttcctgttagtaacctc	7	12	12	10	3	0	0	0	0	0	0	4	3	2	2	3	3	1	4	3	3	3	4			C3N-02089_TP	C3N-02089_NB	G	G																c.4608G>A	p.=	p.R1536R	ENST00000356031	32/37	219	176	43	218	217	1	strelka-varscan-mutect	SPEF2,synonymous_variant,p.=,ENST00000440995,;SPEF2,synonymous_variant,p.=,ENST00000356031,NM_024867.3;SPEF2,downstream_gene_variant,,ENST00000637569,;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,downstream_gene_variant,,ENST00000635995,;SPEF2,3_prime_UTR_variant,,ENST00000506526,;SPEF2,3_prime_UTR_variant,,ENST00000513078,;SPEF2,3_prime_UTR_variant,,ENST00000637061,;	A	ENST00000356031	Transcript	synonymous_variant	4762/5681	4608/5469	1536/1822	R	cgG/cgA	COSM3615698,COSM3615699	1		1	SPEF2	HGNC	HGNC:26293	protein_coding	YES	CCDS43309.1	ENSP00000348314	Q9C093	A0A140VKD0	UPI0001505B9F	NM_024867.3			32/37		hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0,Superfamily_domains:SSF47473											1,1						LOW	1	SNV	2		1,1	1										PASS		.	.												A	2	1	90	35793212	35793212	G	A	1	0	0	0	0	0	0	0	1	15386	1161	41	3		3	SPEF2	5	35793212	Silent	SNP	G	C3N-02089_TP	1911985	35793212	145745047	293	29090											
SPEF2	0	.	GRCh38	chr5	35800000	35800000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatttgctgactatgagaaGgatccaccccagcttgacta	11	11	8	11	0	0	3	0	3	0	1	1	5	1	4	3	1	2	2	3	1	4	5	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.4863G>T	p.Lys1621Asn	p.K1621N	ENST00000356031	34/37	177	144	33	159	159	0	strelka-varscan-mutect	SPEF2,missense_variant,p.Lys1616Asn,ENST00000440995,;SPEF2,missense_variant,p.Lys1621Asn,ENST00000356031,NM_024867.3;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,3_prime_UTR_variant,,ENST00000506526,;SPEF2,3_prime_UTR_variant,,ENST00000513078,;SPEF2,3_prime_UTR_variant,,ENST00000637061,;	T	ENST00000356031	Transcript	missense_variant	5017/5681	4863/5469	1621/1822	K/N	aaG/aaT		1		1	SPEF2	HGNC	HGNC:26293	protein_coding	YES	CCDS43309.1	ENSP00000348314	Q9C093	A0A140VKD0	UPI0001505B9F	NM_024867.3	tolerated(0.1)		34/37		hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0																	MODERATE	1	SNV	2			1										PASS		rs1358707940	.												T	3	4	90	35800000	35800000	G	T	1	0	0	0	0	1	0	0	0	15386	991	35	2		2	SPEF2	5	35800000	Missense_Mutation	SNP	G	C3N-02089_TP	6788	35800000	145738259	294	29091											
EGFLAM	0	.	GRCh38	chr5	38350592	38350592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagggcggctgagctctcCtcggcatgtcaccactttgt	7	10	11	13	2	2	1	1	1	1	0	4	1	2	1	2	3	1	3	2	3	1	1	rs749431693		C3N-02089_TP	C3N-02089_NB	C	C																c.383C>A	p.Pro128His	p.P128H	ENST00000354891	4/23	169	133	36	175	175	0	strelka-varscan-mutect	EGFLAM,missense_variant,p.Pro128His,ENST00000322350,NM_152403.3;EGFLAM,missense_variant,p.Pro128His,ENST00000354891,NM_001205301.1;EGFLAM-AS3,upstream_gene_variant,,ENST00000505267,;EGFLAM,3_prime_UTR_variant,,ENST00000504709,;	A	ENST00000354891	Transcript	missense_variant	729/3963	383/3054	128/1017	P/H	cCt/cAt	rs749431693,COSM221705	1		1	EGFLAM	HGNC	HGNC:26810	protein_coding	YES	CCDS56363.1	ENSP00000346964	Q63HQ2		UPI000022C806	NM_001205301.1	deleterious_low_confidence(0)		4/23		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Superfamily_domains:SSF49265											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs749431693	.												A	3	1	90	38350592	38350592	C	A	1	0	0	0	0	1	0	0	0	4802	681	24	2		2	EGFLAM	5	38350592	Missense_Mutation	SNP	C	C3N-02089_TP	2550592	38350592	143187667	295	29092											
C7	0	.	GRCh38	chr5	40972540	40972540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccttcagcatttctctgtGgctccagccttaagtggagt	6	14	10	11	0	2	0	1	0	1	0	5	1	4	1	3	2	2	2	3	2	1	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2020G>T	p.Gly674Cys	p.G674C	ENST00000313164	15/18	81	57	24	73	73	0	strelka-varscan-mutect	C7,missense_variant,p.Gly674Cys,ENST00000313164,NM_000587.2;C7,non_coding_transcript_exon_variant,,ENST00000494960,;C7,non_coding_transcript_exon_variant,,ENST00000486779,;C7,non_coding_transcript_exon_variant,,ENST00000513922,;C7,upstream_gene_variant,,ENST00000464864,;RP11-301A5.2,upstream_gene_variant,,ENST00000504890,;	T	ENST00000313164	Transcript	missense_variant	2379/4257	2020/2532	674/843	G/C	Ggc/Tgc		1		1	C7	HGNC	HGNC:1346	protein_coding	YES	CCDS47201.1	ENSP00000322061	P10643		UPI000020CA08	NM_000587.2	deleterious(0.03)		15/18		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF389,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	40972540	40972540	G	T	1	0	0	0	0	1	0	0	0	2134	1348	47	2		2	C7	5	40972540	Missense_Mutation	SNP	G	C3N-02089_TP	2621948	40972540	140565719	296	29093											
PLCXD3	0	.	GRCh38	chr5	41382213	41382213	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaaagtggttgaagtccAagaacactacctccttatgg	14	10	8	9	0	0	2	0	1	0	1	2	2	2	2	3	2	2	1	3	2	7	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.425T>A	p.Leu142Ter	p.L142*	ENST00000377801	2/3	322	238	84	236	236	0	strelka-varscan-mutect	PLCXD3,stop_gained,p.Leu142Ter,ENST00000377801,;PLCXD3,stop_gained,p.Leu142Ter,ENST00000328457,NM_001005473.2;	T	ENST00000377801	Transcript	stop_gained	500/7704	425/966	142/321	L/*	tTg/tAg		1		-1	PLCXD3	HGNC	HGNC:31822	protein_coding	YES	CCDS34150.1	ENSP00000367032	Q63HM9		UPI0000049DBB				2/3		Gene3D:3.20.20.190,PROSITE_profiles:PS50007,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33,SMART_domains:SM00148,Superfamily_domains:SSF51695																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	90	41382213	41382213	A	T	1	0	0	0	0	0	1	0	0	12137	131	5	4		4	PLCXD3	5	41382213	Nonsense_Mutation	SNP	A	C3N-02089_TP	409673	41382213	140156046	297	29094											
OXCT1	0	.	GRCh38	chr5	41739442	41739442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccactgtcaggccttccCagagctcaatcagagtcaac	11	8	7	15	0	4	2	4	0	0	2	6	2	6	2	3	1	2	1	3	1	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1469G>T	p.Trp490Leu	p.W490L	ENST00000196371	16/17	375	288	87	341	339	2	strelka-varscan-mutect	OXCT1,missense_variant,p.Trp490Leu,ENST00000196371,NM_000436.3;OXCT1,missense_variant,p.Trp93Leu,ENST00000512084,;OXCT1,missense_variant,p.Trp304Leu,ENST00000509987,;OXCT1,missense_variant,p.Trp93Leu,ENST00000510634,;OXCT1,non_coding_transcript_exon_variant,,ENST00000508557,;OXCT1,non_coding_transcript_exon_variant,,ENST00000503374,;	A	ENST00000196371	Transcript	missense_variant	1630/3388	1469/1563	490/520	W/L	tGg/tTg		1		-1	OXCT1	HGNC	HGNC:8527	protein_coding	YES	CCDS3937.1	ENSP00000196371	P55809	A0A024R040	UPI0000000C9A	NM_000436.3	tolerated(0.52)		16/17		hmmpanther:PTHR13707:SF30,hmmpanther:PTHR13707,Pfam_domain:PF01144,Gene3D:3.40.810.20,PIRSF_domain:PIRSF000858,TIGRFAM_domain:TIGR02428,SMART_domains:SM00882,Superfamily_domains:SSF100950																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	41739442	41739442	C	A	1	0	0	0	0	1	0	0	0	11401	595	21	2		2	OXCT1	5	41739442	Missense_Mutation	SNP	C	C3N-02089_TP	357229	41739442	139798817	298	29095											
HCN1	0	.	GRCh38	chr5	45645184	45645184	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagaaaaagatgcatcttaCctcttcccattgatgtatgt	14	13	6	8	0	2	3	0	1	2	2	3	3	3	3	2	0	2	2	2	0	5	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.849+1G>C		p.X283_splice	ENST00000303230		143	130	13	158	158	0	strelka-mutect	HCN1,splice_donor_variant,,ENST00000303230,NM_021072.3;HCN1,missense_variant,p.Val284Leu,ENST00000634658,;HCN1,splice_donor_variant,,ENST00000637256,;	G	ENST00000303230	Transcript	splice_donor_variant	-/9885	849/2673	283/890				1		-1	HCN1	HGNC	HGNC:4845	protein_coding	YES	CCDS3952.1	ENSP00000307342	O60741		UPI00001AED69	NM_021072.3				2/7																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	90	45645184	45645184	C	G	1	0	0	0	0	0	0	1	0	6883	521	18	4		4	HCN1	5	45645184	Splice_Site	SNP	C	C3N-02089_TP	3905742	45645184	135893075	299	29096											
EMB	0	.	GRCh38	chr5	50441079	50441079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagcttgggcgcgcggcagCgagaaggcactggaggagga	9	3	20	9	5	0	1	0	0	0	1	0	6	0	4	0	6	2	3	0	6	1	1	rs536007220		C3N-02089_TP	C3N-02089_NB	C	C																c.73G>T	p.Ala25Ser	p.A25S	ENST00000303221	1/9	110	85	25	65	65	0	strelka-varscan-mutect	EMB,missense_variant,p.Ala25Ser,ENST00000303221,NM_198449.2;EMB,missense_variant,p.Ala25Ser,ENST00000508934,;EMB,intron_variant,,ENST00000506190,;	A	ENST00000303221	Transcript	missense_variant	289/4281	73/984	25/327	A/S	Gct/Tct	rs536007220	1		-1	EMB	HGNC	HGNC:30465	protein_coding	YES	CCDS3953.1	ENSP00000302289	Q6PCB8		UPI0000160A6D	NM_198449.2	tolerated_low_confidence(0.18)		1/9		hmmpanther:PTHR10075,hmmpanther:PTHR10075:SF4,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs536007220	.												A	3	1	90	50441079	50441079	C	A	1	0	0	0	0	1	0	0	0	4920	768	27	1		1	EMB	5	50441079	Missense_Mutation	SNP	C	C3N-02089_TP	4795895	50441079	131097180	300	29097											
PARP8	0	.	GRCh38	chr5	50815481	50815481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtttgcttttcaaaccctggGagtaatgaatgaagctgctg	10	13	11	7	0	1	2	1	2	0	0	1	3	1	3	1	1	4	5	1	1	4	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1625G>T	p.Gly542Val	p.G542V	ENST00000281631	15/26	257	198	59	214	214	0	strelka-varscan-mutect	PARP8,missense_variant,p.Gly542Val,ENST00000281631,NM_024615.3;PARP8,missense_variant,p.Gly521Val,ENST00000505554,;PARP8,missense_variant,p.Gly542Val,ENST00000514067,NM_001178056.1;PARP8,missense_variant,p.Gly542Val,ENST00000505697,NM_001178055.1;PARP8,missense_variant,p.Gly295Val,ENST00000514342,;PARP8,non_coding_transcript_exon_variant,,ENST00000511363,;PARP8,non_coding_transcript_exon_variant,,ENST00000503561,;PARP8,3_prime_UTR_variant,,ENST00000515166,;	T	ENST00000281631	Transcript	missense_variant	1783/7177	1625/2565	542/854	G/V	gGa/gTa		1		1	PARP8	HGNC	HGNC:26124	protein_coding	YES	CCDS3954.1	ENSP00000281631	Q8N3A8		UPI0000073D19	NM_024615.3	deleterious(0)		15/26		hmmpanther:PTHR21328,hmmpanther:PTHR21328:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	50815481	50815481	G	T	1	0	0	0	0	1	0	0	0	11545	1174	41	2		2	PARP8	5	50815481	Missense_Mutation	SNP	G	C3N-02089_TP	374402	50815481	130722778	301	29098											
MCIDAS	0	.	GRCh38	chr5	55220416	55220416	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgttggctgttctgatggTgaaggcattgccctggggga	5	11	16	9	1	1	2	0	2	1	0	1	3	1	3	2	5	1	4	2	5	1	3	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1108A>G	p.Thr370Ala	p.T370A	ENST00000513312	7/7	136	95	41	157	157	0	strelka-varscan-mutect	MCIDAS,missense_variant,p.Thr370Ala,ENST00000513312,NM_001190787.1;MCIDAS,downstream_gene_variant,,ENST00000515336,;MCIDAS,3_prime_UTR_variant,,ENST00000513468,;	C	ENST00000513312	Transcript	missense_variant	1285/1736	1108/1158	370/385	T/A	Acc/Gcc		1		-1	MCIDAS	HGNC	HGNC:40050	protein_coding	YES	CCDS54853.1	ENSP00000426359	D6RGH6		UPI000020C760	NM_001190787.1	deleterious(0)		7/7		hmmpanther:PTHR13372,hmmpanther:PTHR13372:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	55220416	55220416	T	C	1	0	0	0	0	1	0	0	0	9315	1696	59	5		5	MCIDAS	5	55220416	Missense_Mutation	SNP	T	C3N-02089_TP	4404935	55220416	126317843	302	29099											
ANKRD55	0	.	GRCh38	chr5	56126995	56126995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgaataatatcgctgaagcCcgctgccgctgcgatatgta	11	10	10	10	4	0	2	0	2	0	0	1	3	0	2	2	0	3	4	2	0	6	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.724G>T	p.Gly242Cys	p.G242C	ENST00000341048	8/12	127	103	24	158	158	0	strelka-varscan-mutect	ANKRD55,missense_variant,p.Gly242Cys,ENST00000341048,NM_024669.2;ANKRD55,missense_variant,p.Gly199Cys,ENST00000504958,;RNU6-299P,downstream_gene_variant,,ENST00000517223,;ANKRD55,intron_variant,,ENST00000505970,;	A	ENST00000341048	Transcript	missense_variant	876/2502	724/1845	242/614	G/C	Ggc/Tgc		1		-1	ANKRD55	HGNC	HGNC:25681	protein_coding	YES	CCDS34161.1	ENSP00000342295	Q3KP44		UPI00004572EF	NM_024669.2	deleterious(0)		8/12		PROSITE_profiles:PS50297,hmmpanther:PTHR24158,hmmpanther:PTHR24158:SF24,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	2			1										PASS		rs1437793448	.												A	3	1	90	56126995	56126995	C	A	1	0	0	0	0	1	0	0	0	785	623	22	2		2	ANKRD55	5	56126995	Missense_Mutation	SNP	C	C3N-02089_TP	906579	56126995	125411264	303	29100											
RGS7BP	0	.	GRCh38	chr5	64507800	64507800	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcagctgcccctcactccgGgcggaaatgcacaagacaag	11	5	11	14	2	2	1	2	0	0	1	3	2	3	2	3	2	3	2	3	2	3	0	rs762869588		C3N-02089_TP	C3N-02089_NB	G	G																c.255G>C	p.=	p.R85R	ENST00000334025	2/6	135	105	30	145	145	0	strelka-varscan-mutect	RGS7BP,synonymous_variant,p.=,ENST00000334025,NM_001029875.2;RGS7BP,intron_variant,,ENST00000508162,;	C	ENST00000334025	Transcript	synonymous_variant	581/4160	255/774	85/257	R	cgG/cgC	rs762869588	1		1	RGS7BP	HGNC	HGNC:23271	protein_coding	YES	CCDS34170.1	ENSP00000334851	Q6MZT1		UPI00001D7F8B	NM_001029875.2			2/6		hmmpanther:PTHR21029,hmmpanther:PTHR21029:SF14																	LOW	1	SNV	1			1										PASS		rs762869588	.												C	2	2	90	64507800	64507800	G	C	1	0	0	0	0	0	0	0	1	13482	1219	43	4		4	RGS7BP	5	64507800	Silent	SNP	G	C3N-02089_TP	8380805	64507800	117030459	304	29101											
BTF3	0	.	GRCh38	chr5	73498723	73498723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgggggcgaggtcgagccaGgggcggctgccctgggggcg	3	4	23	11	5	0	0	0	0	0	0	2	2	0	0	2	8	2	1	2	8	0	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.56G>T	p.Arg19Met	p.R19M	ENST00000380591	1/6	64	46	18	76	76	0	strelka-varscan-mutect	BTF3,missense_variant,p.Arg19Met,ENST00000380591,NM_001037637.1;BTF3,intron_variant,,ENST00000335895,NM_001207.4;BTF3,intron_variant,,ENST00000507081,;BTF3,upstream_gene_variant,,ENST00000509708,;RP11-79P5.9,upstream_gene_variant,,ENST00000607001,;BTF3,intron_variant,,ENST00000514505,;BTF3,non_coding_transcript_exon_variant,,ENST00000512257,;BTF3,non_coding_transcript_exon_variant,,ENST00000510787,;BTF3,intron_variant,,ENST00000514360,;BTF3,intron_variant,,ENST00000508901,;	T	ENST00000380591	Transcript	missense_variant	275/1237	56/621	19/206	R/M	aGg/aTg		1		1	BTF3	HGNC	HGNC:1125	protein_coding	YES	CCDS34185.1	ENSP00000369965	P20290		UPI0000049C1C	NM_001037637.1	deleterious_low_confidence(0.05)		1/6		Low_complexity_(Seg):seg,hmmpanther:PTHR10351																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	73498723	73498723	G	T	1	0	0	0	0	1	0	0	0	1727	1000	35	2		2	BTF3	5	73498723	Missense_Mutation	SNP	G	C3N-02089_TP	8990923	73498723	108039536	305	29102											
HAPLN1	0	.	GRCh38	chr5	83652499	83652499	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcatcttctaatccttcAatcacctcacacttatatct	11	16	1	13	0	7	0	4	0	3	0	8	0	8	0	2	0	0	1	2	0	5	6	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.426T>A	p.=	p.I142I	ENST00000274341	3/5	100	87	13	107	107	0	varscan-mutect	HAPLN1,synonymous_variant,p.=,ENST00000274341,NM_001884.3;HAPLN1,synonymous_variant,p.=,ENST00000514416,;HAPLN1,synonymous_variant,p.=,ENST00000510978,;HAPLN1,synonymous_variant,p.=,ENST00000504713,;HAPLN1,synonymous_variant,p.=,ENST00000508307,;HAPLN1,synonymous_variant,p.=,ENST00000503117,;HAPLN1,synonymous_variant,p.=,ENST00000515590,;	T	ENST00000274341	Transcript	synonymous_variant	1277/5607	426/1065	142/354	I	atT/atA		1		-1	HAPLN1	HGNC	HGNC:2380	protein_coding	YES	CCDS4061.1	ENSP00000274341	P10915	A0A024RAK9	UPI0000131BFF	NM_001884.3			3/5		PROSITE_profiles:PS50835,hmmpanther:PTHR22804:SF10,hmmpanther:PTHR22804,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs897393192	.												T	2	4	90	83652499	83652499	A	T	1	0	0	0	0	0	0	0	1	6840	126	5	4		4	HAPLN1	5	83652499	Silent	SNP	A	C3N-02089_TP	10153776	83652499	97885760	306	29103											
LNPEP	0	.	GRCh38	chr5	96996408	96996408	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtggtttggcaatctggtaAcaatgaagtggtggaatgac	12	11	14	4	0	1	2	0	2	1	0	1	3	1	3	0	5	1	3	0	5	5	2	rs779684633		C3N-02089_TP	C3N-02089_NB	A	A																c.1426A>C	p.Thr476Pro	p.T476P	ENST00000231368	7/18	309	271	38	343	343	0	strelka-varscan-mutect	LNPEP,missense_variant,p.Thr476Pro,ENST00000231368,NM_005575.2;LNPEP,missense_variant,p.Thr462Pro,ENST00000395770,NM_175920.3;LNPEP,non_coding_transcript_exon_variant,,ENST00000473914,;LNPEP,non_coding_transcript_exon_variant,,ENST00000474122,;	C	ENST00000231368	Transcript	missense_variant	2118/12752	1426/3078	476/1025	T/P	Aca/Cca	rs779684633	1		1	LNPEP	HGNC	HGNC:6656	protein_coding	YES	CCDS4087.1	ENSP00000231368	Q9UIQ6		UPI000013C94B	NM_005575.2	deleterious(0)		7/18		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF42,Pfam_domain:PF01433,Gene3D:1.10.390.10,Superfamily_domains:SSF55486,Prints_domain:PR00756																	MODERATE	1	SNV	1			1										PASS		rs779684633	.												C	3	2	90	96996408	96996408	A	C	1	0	0	0	0	1	0	0	0	8791	43	2	5		5	LNPEP	5	96996408	Missense_Mutation	SNP	A	C3N-02089_TP	13343909	96996408	84541851	307	29104											
TSLP	0	.	GRCh38	chr5	111071981	111071981	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctggtgttaacttacgacTtcactaactgtgactttgag	9	14	10	8	1	1	2	1	2	0	0	1	3	1	2	0	2	3	2	0	2	3	5	rs753025356		C3N-02089_TP	C3N-02089_NB	T	T																c.91T>A	p.Phe31Ile	p.F31I	ENST00000344895	1/4	137	123	14	179	179	0	strelka-varscan-mutect	TSLP,missense_variant,p.Phe31Ile,ENST00000420978,;TSLP,missense_variant,p.Phe31Ile,ENST00000344895,NM_033035.4;TSLP,upstream_gene_variant,,ENST00000379706,NM_138551.4;CTC-551A13.2,downstream_gene_variant,,ENST00000507269,;	A	ENST00000344895	Transcript	missense_variant	290/736	91/480	31/159	F/I	Ttc/Atc	rs753025356	1		1	TSLP	HGNC	HGNC:30743	protein_coding	YES	CCDS4101.1	ENSP00000339804	Q969D9		UPI000006DB21	NM_033035.4	deleterious(0)		1/4		Pfam_domain:PF15216,hmmpanther:PTHR38003																	MODERATE	1	SNV	1			1										PASS		rs753025356	.												A	3	1	90	111071981	111071981	T	A	1	0	0	0	0	1	0	0	0	17133	1609	56	4		4	TSLP	5	111071981	Missense_Mutation	SNP	T	C3N-02089_TP	14075573	111071981	70466278	308	29105											
APC	0	.	GRCh38	chr5	112843535	112843535	+	Frame_Shift_Del	DEL	G	G	-																															aagactctaatttatcaaatGgcacctgctgtttctaaaac																								novel		C3N-02089_TP	C3N-02089_NB	G	G																c.7942delG	p.Ala2648HisfsTer12	p.A2648Hfs*12	ENST00000257430	16/16	133	105	28	203	202	1	sindel-varindel-pindel	APC,frameshift_variant,p.Ala2648HisfsTer12,ENST00000257430,NM_000038.5;APC,frameshift_variant,p.Ala2648HisfsTer12,ENST00000508376,NM_001127510.2;APC,downstream_gene_variant,,ENST00000512211,;APC,downstream_gene_variant,,ENST00000507379,NM_001127511.2;CTC-554D6.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000508624,;APC,downstream_gene_variant,,ENST00000502371,;	-	ENST00000257430	Transcript	frameshift_variant	7997/10701	7941/8532	2647/2843	M/X	atG/at		1		1	APC	HGNC	HGNC:583	protein_coding	YES	CCDS4107.1	ENSP00000257430	P25054		UPI000013CF60	NM_000038.5			16/16		hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11																	HIGH		deletion	5	1		1										PASS		.	.												-	7	5	90	112843535	112843535	G	-	1	0	1	0	1	0	0	0	0	883	1348	47	0		0	APC	5	112843535	Frame_Shift_Del	DEL	G	C3N-02089_TP	1771554	112843535	68694724	309	29106											
SRP19	0	.	GRCh38	chr5	112862509	112862509	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctattgtctatggcaggTttatttgtatctatcctgct	7	19	8	7	0	2	0	0	0	2	0	3	0	3	0	1	2	2	5	1	2	5	8	rs201250324		C3N-02089_TP	C3N-02089_NB	T	T																c.43T>A	p.Phe15Ile	p.F15I	ENST00000505459	2/5	309	272	37	289	288	1	strelka-varscan-mutect	SRP19,missense_variant,p.Phe15Ile,ENST00000505459,NM_003135.2;SRP19,missense_variant,p.Phe15Ile,ENST00000621420,NM_001204194.1;SRP19,missense_variant,p.Phe15Ile,ENST00000282999,NM_001204193.1;SRP19,missense_variant,p.Phe15Ile,ENST00000445150,;SRP19,intron_variant,,ENST00000515463,NM_001204196.1;CTC-487M23.8,splice_region_variant,,ENST00000512790,;CTC-487M23.8,splice_region_variant,,ENST00000503445,;CTC-487M23.8,missense_variant,p.Phe15Ile,ENST00000506997,;CTC-554D6.1,splice_region_variant,p.=,ENST00000520401,;SRP19,splice_region_variant,,ENST00000515755,;SRP19,non_coding_transcript_exon_variant,,ENST00000506987,;CTC-487M23.8,non_coding_transcript_exon_variant,,ENST00000509024,;SRP19,upstream_gene_variant,,ENST00000504696,;	A	ENST00000505459	Transcript	missense_variant,splice_region_variant	198/2841	43/435	15/144	F/I	Ttt/Att	rs201250324	1		1	SRP19	HGNC	HGNC:11300	protein_coding	YES	CCDS4108.1	ENSP00000424870	P09132		UPI000013DD11	NM_003135.2	deleterious(0)		2/5		hmmpanther:PTHR17453:SF0,hmmpanther:PTHR17453,Gene3D:3.30.56.30,Superfamily_domains:SSF69695																	MODERATE	1	SNV	1			1										PASS		rs201250324	.												A	3	1	90	112862509	112862509	T	A	1	0	0	0	0	1	0	0	0	15515	1739	60	4		4	SRP19	5	112862509	Missense_Mutation	SNP	T	C3N-02089_TP	18974	112862509	68675750	310	29107											
MEGF10	0	.	GRCh38	chr5	127398729	127398729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagtgtgagcagagatGcccttgtcaaaatggaggag	12	8	13	8	0	1	2	1	1	0	1	2	5	2	4	2	2	2	1	2	2	2	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.713G>T	p.Cys238Phe	p.C238F	ENST00000274473	8/26	183	143	40	280	280	0	strelka-varscan-mutect	MEGF10,missense_variant,p.Cys238Phe,ENST00000274473,NM_032446.2;MEGF10,missense_variant,p.Cys238Phe,ENST00000503335,NM_001256545.1;MEGF10,missense_variant,p.Cys238Phe,ENST00000508365,NM_001308121.1;MEGF10,missense_variant,p.Cys238Phe,ENST00000418761,;	T	ENST00000274473	Transcript	missense_variant	980/7594	713/3423	238/1140	C/F	tGc/tTc		1		1	MEGF10	HGNC	HGNC:29634	protein_coding	YES	CCDS4142.1	ENSP00000274473	Q96KG7		UPI000006F868	NM_032446.2	deleterious(0.01)		8/26		Gene3D:2gy5A03,PROSITE_profiles:PS50026,hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF75,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	127398729	127398729	G	T	1	0	0	0	0	1	0	0	0	9400	1319	46	2		2	MEGF10	5	127398729	Missense_Mutation	SNP	G	C3N-02089_TP	14536220	127398729	54139530	311	29108											
FBN2	0	.	GRCh38	chr5	128393264	128393264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatagccattgccattgcCacttggggcaaagccatttc	9	10	9	13	0	0	0	0	0	0	0	1	0	0	0	5	2	4	1	5	2	2	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1336G>T	p.Gly446Cys	p.G446C	ENST00000508053	16/71	311	214	97	305	305	0	strelka-varscan-mutect	FBN2,missense_variant,p.Gly446Cys,ENST00000508053,;FBN2,missense_variant,p.Gly446Cys,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Gly445Cys,ENST00000619499,;FBN2,missense_variant,p.Gly413Cys,ENST00000508989,;	A	ENST00000508053	Transcript	missense_variant	2311/11132	1336/8739	446/2912	G/C	Ggc/Tgc		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		tolerated(0.11)		16/71		PIRSF_domain:PIRSF036312,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs1173562709	.												A	3	1	90	128393264	128393264	C	A	1	0	0	0	0	1	0	0	0	5566	594	21	2		2	FBN2	5	128393264	Missense_Mutation	SNP	C	C3N-02089_TP	994535	128393264	53144995	312	29109											
PCDHA2	0	.	GRCh38	chr5	140795149	140795149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggagctggtgccgcGcctgttccgggtggcgtcca	3	8	18	12	4	0	0	0	0	0	0	2	2	2	2	4	5	2	3	4	5	0	1			C3N-02089_TP	C3N-02089_NB	G	G																c.185G>T	p.Arg62Leu	p.R62L	ENST00000526136	1/4	504	366	138	484	483	1	strelka-varscan-mutect	PCDHA2,missense_variant,p.Arg62Leu,ENST00000526136,NM_018905.2;PCDHA2,missense_variant,p.Arg62Leu,ENST00000520672,NM_031496.1;PCDHA2,missense_variant,p.Arg62Leu,ENST00000378132,NM_031495.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,intron_variant,,ENST00000624176,;	T	ENST00000526136	Transcript	missense_variant	185/5254	185/2847	62/948	R/L	cGc/cTc	COSM4711830,COSM4711831	1		1	PCDHA2	HGNC	HGNC:8668	protein_coding	YES	CCDS54914.1	ENSP00000431748	Q9Y5H9		UPI00001273C9	NM_018905.2	deleterious_low_confidence(0)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	90	140795149	140795149	G	T	1	0	0	0	0	1	0	0	0	11611	1087	38	1		1	PCDHA2	5	140795149	Missense_Mutation	SNP	G	C3N-02089_TP	12401885	140795149	40743110	313	29110											
PCDHA2	0	.	GRCh38	chr5	140796955	140796955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgttgacagccacggccaCcgtgttagtgtcgttggtgg	6	10	15	10	4	0	1	0	1	0	0	1	1	0	1	3	3	2	3	3	3	1	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1991C>A	p.Thr664Asn	p.T664N	ENST00000526136	1/4	213	164	49	245	245	0	strelka-varscan-mutect	PCDHA2,missense_variant,p.Thr664Asn,ENST00000526136,NM_018905.2;PCDHA2,missense_variant,p.Thr664Asn,ENST00000520672,NM_031496.1;PCDHA2,missense_variant,p.Thr664Asn,ENST00000378132,NM_031495.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA3,upstream_gene_variant,,ENST00000522353,NM_018906.2;PCDHA3,upstream_gene_variant,,ENST00000532566,NM_031497.1;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,intron_variant,,ENST00000624176,;	A	ENST00000526136	Transcript	missense_variant	1991/5254	1991/2847	664/948	T/N	aCc/aAc		1		1	PCDHA2	HGNC	HGNC:8668	protein_coding	YES	CCDS54914.1	ENSP00000431748	Q9Y5H9		UPI00001273C9	NM_018905.2	deleterious_low_confidence(0)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	140796955	140796955	C	A	1	0	0	0	0	1	0	0	0	11611	507	18	2		2	PCDHA2	5	140796955	Missense_Mutation	SNP	C	C3N-02089_TP	1806	140796955	40741304	314	29111											
PCDHA5	0	.	GRCh38	chr5	140822796	140822796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtagtagtgaaactcctgGatgtgaatgataatacccca	15	10	9	7	0	0	3	0	3	0	0	1	4	1	4	3	1	2	2	3	1	7	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1021G>T	p.Asp341Tyr	p.D341Y	ENST00000529859	1/4	132	81	51	178	176	2	strelka-varscan-mutect	PCDHA5,missense_variant,p.Asp341Tyr,ENST00000529859,NM_018908.2;PCDHA5,missense_variant,p.Asp341Tyr,ENST00000614258,NM_031501.1;PCDHA5,missense_variant,p.Asp341Tyr,ENST00000529619,;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA4,intron_variant,,ENST00000512229,;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.16,upstream_gene_variant,,ENST00000624712,;	T	ENST00000529859	Transcript	missense_variant	1021/5218	1021/2811	341/936	D/Y	Gat/Tat		1		1	PCDHA5	HGNC	HGNC:8671	protein_coding	YES	CCDS54917.1	ENSP00000436557	Q9Y5H7		UPI00001273CD	NM_018908.2	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	140822796	140822796	G	T	1	0	0	0	0	1	0	0	0	11614	1174	41	2		2	PCDHA5	5	140822796	Missense_Mutation	SNP	G	C3N-02089_TP	25841	140822796	40715463	315	29112											
PCDHA8	0	.	GRCh38	chr5	140842938	140842938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggtgagcgcgcgcgaCgcgggcgtgccgcctctggg	3	6	18	14	8	1	1	0	1	1	0	2	2	2	1	3	3	2	0	3	3	0	1	rs782409910		C3N-02089_TP	C3N-02089_NB	C	C																c.1617C>A	p.Asp539Glu	p.D539E	ENST00000531613	1/4	727	509	218	672	672	0	strelka-varscan-mutect	PCDHA8,missense_variant,p.Asp539Glu,ENST00000531613,NM_018911.2;PCDHA8,missense_variant,p.Asp539Glu,ENST00000378123,NM_031856.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA9,upstream_gene_variant,,ENST00000378122,NM_014005.4;PCDHA9,upstream_gene_variant,,ENST00000532602,NM_031857.1;	A	ENST00000531613	Transcript	missense_variant	1617/5260	1617/2853	539/950	D/E	gaC/gaA	rs782409910	1		1	PCDHA8	HGNC	HGNC:8674	protein_coding	YES	CCDS54919.1	ENSP00000434655	Q9Y5H6		UPI00001273D0	NM_018911.2	deleterious_low_confidence(0)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF125,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs782409910	.												A	3	1	90	140842938	140842938	C	A	1	0	0	0	0	1	0	0	0	11617	535	19	1		1	PCDHA8	5	140842938	Missense_Mutation	SNP	C	C3N-02089_TP	20142	140842938	40695321	316	29113											
PCDHA9	0	.	GRCh38	chr5	140850352	140850352	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagaaacggccagcgcgagCatcccgttccgcgtggggct	7	5	14	15	6	0	1	0	0	0	1	2	2	2	1	4	3	3	3	4	3	1	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1857C>A	p.Ser619Arg	p.S619R	ENST00000532602	1/4	397	298	99	356	355	1	strelka-varscan-mutect	PCDHA9,missense_variant,p.Ser619Arg,ENST00000378122,NM_014005.4;PCDHA9,missense_variant,p.Ser619Arg,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.19,upstream_gene_variant,,ENST00000623320,;	A	ENST00000532602	Transcript	missense_variant	2890/6293	1857/2853	619/950	S/R	agC/agA		1		1	PCDHA9	HGNC	HGNC:8675	protein_coding	YES	CCDS54920.1	ENSP00000436042	Q9Y5H5		UPI00001273D1	NM_031857.1	tolerated_low_confidence(1)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	140850352	140850352	C	A	1	0	0	0	0	1	0	0	0	11618	709	25	2		2	PCDHA9	5	140850352	Missense_Mutation	SNP	C	C3N-02089_TP	7414	140850352	40687907	317	29114											
PCDHGA2	0	.	GRCh38	chr5	141340854	141340854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacgggcgaggtgcgcaCggcgcgagccctgctggaca	7	3	17	14	6	0	0	0	0	0	0	0	3	0	1	1	4	3	3	1	4	0	0			C3N-02089_TP	C3N-02089_NB	C	C																c.1883C>A	p.Thr628Lys	p.T628K	ENST00000394576	1/4	272	194	78	350	350	0	strelka-varscan-mutect	PCDHGA2,missense_variant,p.Thr628Lys,ENST00000394576,NM_018915.3;PCDHGA2,missense_variant,p.Thr628Lys,ENST00000528330,NM_032009.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3;PCDHGA3,upstream_gene_variant,,ENST00000619750,NM_032011.1;PCDHGA3,upstream_gene_variant,,ENST00000612467,;	A	ENST00000394576	Transcript	missense_variant	1883/4605	1883/2799	628/932	T/K	aCg/aAg	COSM1165955,COSM1165956	1		1	PCDHGA2	HGNC	HGNC:8700	protein_coding	YES	CCDS47289.1	ENSP00000378077	Q9Y5H1		UPI0000072E67	NM_018915.3	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF134,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	90	141340854	141340854	C	A	1	0	0	0	0	1	0	0	0	11641	536	19	1		1	PCDHGA2	5	141340854	Missense_Mutation	SNP	C	C3N-02089_TP	490502	141340854	40197405	318	29115											
PCDHGB7	0	.	GRCh38	chr5	141418304	141418304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagtgaatccgtcagcctgGggatgggaacaattcttgag	10	10	13	8	1	3	2	2	2	1	0	4	4	4	4	2	3	2	0	2	3	3	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.445G>T	p.Gly149Trp	p.G149W	ENST00000398594	1/4	188	139	49	227	227	0	strelka-varscan-mutect	PCDHGB7,missense_variant,p.Gly149Trp,ENST00000398594,NM_018927.3;PCDHGB7,missense_variant,p.Gly149Trp,ENST00000612073,NM_032101.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGA11,upstream_gene_variant,,ENST00000398587,NM_018914.2;PCDHGA10,downstream_gene_variant,,ENST00000612503,NM_032090.1;PCDHGA11,upstream_gene_variant,,ENST00000622044,NM_032091.1;PCDHGA11,upstream_gene_variant,,ENST00000518882,NM_032092.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000398594	Transcript	missense_variant	614/4765	445/2790	149/929	G/W	Ggg/Tgg		1		1	PCDHGB7	HGNC	HGNC:8714	protein_coding	YES	CCDS47293.1	ENSP00000381594	Q9Y5F8		UPI000007141F	NM_018927.3	deleterious(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF113,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	141418304	141418304	G	T	1	0	0	0	0	1	0	0	0	11655	1232	43	2		2	PCDHGB7	5	141418304	Missense_Mutation	SNP	G	C3N-02089_TP	77450	141418304	40119955	319	29116											
TCERG1	0	.	GRCh38	chr5	146470713	146470713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatggagacggaggaggagGatcctaaagaagagcctata	16	5	14	6	1	0	3	0	0	0	3	1	8	1	7	2	5	1	0	2	5	6	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1477G>T	p.Asp493Tyr	p.D493Y	ENST00000296702	8/22	175	128	47	186	186	0	strelka-varscan-mutect	TCERG1,missense_variant,p.Asp493Tyr,ENST00000296702,NM_006706.3;TCERG1,missense_variant,p.Asp472Tyr,ENST00000394421,NM_001040006.1;TCERG1,non_coding_transcript_exon_variant,,ENST00000510724,;TCERG1,missense_variant,p.Asp493Tyr,ENST00000549332,;TCERG1,non_coding_transcript_exon_variant,,ENST00000507175,;TCERG1,downstream_gene_variant,,ENST00000513298,;	T	ENST00000296702	Transcript	missense_variant	1515/4654	1477/3297	493/1098	D/Y	Gat/Tat		1		1	TCERG1	HGNC	HGNC:15630	protein_coding	YES	CCDS4282.1	ENSP00000296702	O14776		UPI000013E374	NM_006706.3	deleterious(0.01)		8/22		hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF7,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	146470713	146470713	G	T	1	0	0	0	0	1	0	0	0	16092	1174	41	2		2	TCERG1	5	146470713	Missense_Mutation	SNP	G	C3N-02089_TP	5052409	146470713	35067546	320	29117											
SLC6A7	0	.	GRCh38	chr5	150202413	150202413	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcggggggctcctcaccTttgcctcctacaacacgttt	5	12	9	15	2	1	0	1	0	0	0	4	0	3	0	4	3	3	3	4	3	2	4	rs779330388		C3N-02089_TP	C3N-02089_NB	T	T																c.925T>A	p.Phe309Ile	p.F309I	ENST00000230671	7/14	181	130	51	171	171	0	strelka-varscan-mutect	SLC6A7,missense_variant,p.Phe309Ile,ENST00000230671,NM_014228.3;SLC6A7,missense_variant,p.Phe309Ile,ENST00000524041,;	A	ENST00000230671	Transcript	missense_variant	1296/3739	925/1911	309/636	F/I	Ttt/Att	rs779330388	1		1	SLC6A7	HGNC	HGNC:11054	protein_coding	YES	CCDS4305.1	ENSP00000230671	Q99884		UPI000013C93C	NM_014228.3	deleterious(0.03)		7/14		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF35,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687																	MODERATE	1	SNV	1			1										PASS		rs779330388	.												A	3	1	90	150202413	150202413	T	A	1	0	0	0	0	1	0	0	0	14972	1609	56	4		4	SLC6A7	5	150202413	Missense_Mutation	SNP	T	C3N-02089_TP	3731700	150202413	31335846	321	29118											
ITK	0	.	GRCh38	chr5	157245739	157245739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccaggctgccagaaattGtttggtgggagaaaaccaag	12	9	12	8	0	1	2	0	0	1	2	2	3	1	2	3	3	2	2	3	3	4	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1463G>T	p.Cys488Phe	p.C488F	ENST00000422843	14/17	360	254	106	361	360	1	strelka-varscan-mutect	ITK,missense_variant,p.Cys488Phe,ENST00000422843,NM_005546.3;ITK,intron_variant,,ENST00000519749,;ITK,non_coding_transcript_exon_variant,,ENST00000519402,;ITK,non_coding_transcript_exon_variant,,ENST00000523926,;ITK,downstream_gene_variant,,ENST00000520173,;	T	ENST00000422843	Transcript	missense_variant	1615/4528	1463/1863	488/620	C/F	tGt/tTt		1		1	ITK	HGNC	HGNC:6171	protein_coding	YES	CCDS4336.1	ENSP00000398655	Q08881		UPI000004CADA	NM_005546.3	deleterious(0)		14/17		PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF61,hmmpanther:PTHR24418,PROSITE_patterns:PS00109,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	157245739	157245739	G	T	1	0	0	0	0	1	0	0	0	7815	1377	48	2		2	ITK	5	157245739	Missense_Mutation	SNP	G	C3N-02089_TP	7043326	157245739	24292520	322	29119											
C1QTNF2	0	.	GRCh38	chr5	160349254	160349254	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagggtcatagaagagccCgttctgctctgagtagaaga	12	9	13	7	1	3	5	1	1	2	4	3	5	3	5	1	1	2	4	1	1	5	4	rs750083087		C3N-02089_TP	C3N-02089_NB	C	C																c.907G>T	p.Gly303Trp	p.G303W	ENST00000393975	3/3	242	207	35	256	255	1	strelka-varscan-mutect	C1QTNF2,missense_variant,p.Gly303Trp,ENST00000393975,NM_031908.4;CCNJL,upstream_gene_variant,,ENST00000521643,;	A	ENST00000393975	Transcript	missense_variant	911/2414	907/993	303/330	G/W	Ggg/Tgg	rs750083087	1		-1	C1QTNF2	HGNC	HGNC:14325	protein_coding	YES	CCDS4351.2	ENSP00000377545	Q9BXJ5		UPI0000D4B9D3	NM_031908.4	deleterious(0)		3/3		Gene3D:2.60.120.40,Pfam_domain:PF00386,PROSITE_profiles:PS50871,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF607,SMART_domains:SM00110,Superfamily_domains:SSF49842																	MODERATE	1	SNV	1			1										PASS		rs750083087	.												A	3	1	90	160349254	160349254	C	A	1	0	0	0	0	1	0	0	0	1941	652	23	1		1	C1QTNF2	5	160349254	Missense_Mutation	SNP	C	C3N-02089_TP	3103515	160349254	21189005	323	29120											
ZBED8	0	.	GRCh38	chr5	160394470	160394470	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacatttcaaaaatgtgagTaagtatttggcctcgggaaa	15	12	9	5	1	1	1	1	1	0	0	2	2	1	2	1	2	1	2	1	2	6	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1021A>T	p.Thr341Ser	p.T341S	ENST00000408953	2/2	218	147	71	325	325	0	strelka-varscan-mutect	ZBED8,missense_variant,p.Thr341Ser,ENST00000408953,NM_022090.4;ZBED8,missense_variant,p.Thr341Ser,ENST00000523213,NM_001303251.1;	A	ENST00000408953	Transcript	missense_variant	1529/2851	1021/1785	341/594	T/S	Act/Tct		1		-1	ZBED8	HGNC	HGNC:30804	protein_coding	YES	CCDS34283.1	ENSP00000386184	Q8IZ13		UPI00000741A3	NM_022090.4	tolerated(0.68)		2/2		hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF102,Superfamily_domains:SSF53098																	MODERATE	1	SNV	2			1										PASS		rs1441526506	.												A	3	1	90	160394470	160394470	T	A	1	0	0	0	0	1	0	0	0	18085	1638	57	4		4	ZBED8	5	160394470	Missense_Mutation	SNP	T	C3N-02089_TP	45216	160394470	21143789	324	29121											
ATP10B	0	.	GRCh38	chr5	160620584	160620584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgggcagcgtgcaccaGggcggcctcatcagggctct	6	6	16	13	2	3	0	2	0	1	0	3	0	3	0	2	5	2	4	2	5	0	0			C3N-02089_TP	C3N-02089_NB	G	G																c.2179C>A	p.Leu727Met	p.L727M	ENST00000327245	15/26	93	62	31	101	101	0	strelka-varscan-mutect	ATP10B,missense_variant,p.Leu727Met,ENST00000327245,NM_025153.2;ATP10B,missense_variant,p.Leu335Met,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;	T	ENST00000327245	Transcript	missense_variant	3026/7566	2179/4386	727/1461	L/M	Ctg/Atg	COSM1283560	1		-1	ATP10B	HGNC	HGNC:13543	protein_coding	YES	CCDS43394.1	ENSP00000313600	O94823		UPI0000191DAE	NM_025153.2	deleterious(0)		15/26		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF79,Pfam_domain:PF13246,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10,Superfamily_domains:SSF81660											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	90	160620584	160620584	G	T	1	0	0	0	0	1	0	0	0	1269	991	35	2		2	ATP10B	5	160620584	Missense_Mutation	SNP	G	C3N-02089_TP	226114	160620584	20917675	325	29122											
LCP2	0	.	GRCh38	chr5	170262735	170262735	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttgggtaaatgctcccCgagtgacctgtggagttcag	9	11	12	9	1	2	1	1	1	1	0	3	3	3	2	3	2	1	3	3	2	3	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.826G>C	p.Gly276Arg	p.G276R	ENST00000046794	13/21	144	104	40	153	153	0	strelka-varscan-mutect	LCP2,missense_variant,p.Gly276Arg,ENST00000046794,NM_005565.3;LCP2,missense_variant,p.Gly276Arg,ENST00000628092,;LCP2,missense_variant,p.Gly71Arg,ENST00000521416,;LCP2,missense_variant,p.Gly43Arg,ENST00000520344,;LCP2,upstream_gene_variant,,ENST00000523369,;	G	ENST00000046794	Transcript	missense_variant	1442/4678	826/1602	276/533	G/R	Ggg/Cgg		1		-1	LCP2	HGNC	HGNC:6529	protein_coding	YES	CCDS47339.1	ENSP00000046794	Q13094		UPI000012E2AE	NM_005565.3	deleterious(0)		13/21		hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF1																	MODERATE	1	SNV	1			1										PASS		rs902403854	.												G	3	3	90	170262735	170262735	C	G	1	0	0	0	0	1	0	0	0	8598	652	23	4		4	LCP2	5	170262735	Missense_Mutation	SNP	C	C3N-02089_TP	9642151	170262735	11275524	326	29123											
CDHR2	0	.	GRCh38	chr5	176591463	176591463	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttggagtacctctctccctCcaatgacctggactctgtca	7	12	7	15	0	3	1	1	1	2	0	6	3	5	3	4	2	1	1	4	2	2	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.3713C>G	p.Ser1238Cys	p.S1238C	ENST00000510636	30/32	248	188	60	251	251	0	strelka-varscan-mutect	CDHR2,missense_variant,p.Ser1238Cys,ENST00000510636,NM_001171976.1;CDHR2,missense_variant,p.Ser1238Cys,ENST00000261944,NM_017675.4;CDHR2,missense_variant,p.Ser1238Cys,ENST00000506348,;GPRIN1,downstream_gene_variant,,ENST00000303991,NM_052899.2;CDHR2,non_coding_transcript_exon_variant,,ENST00000416365,;CDHR2,downstream_gene_variant,,ENST00000513031,;CDHR2,downstream_gene_variant,,ENST00000508085,;	G	ENST00000510636	Transcript	missense_variant	3987/4509	3713/3933	1238/1310	S/C	tCc/tGc		1		1	CDHR2	HGNC	HGNC:18231	protein_coding	YES	CCDS34297.1	ENSP00000424565	Q9BYE9		UPI0000DBEE8C	NM_001171976.1	deleterious(0)		30/32		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	176591463	176591463	C	G	1	0	0	0	0	1	0	0	0	2822	855	30	4		4	CDHR2	5	176591463	Missense_Mutation	SNP	C	C3N-02089_TP	6328728	176591463	4946796	327	29124											
MGAT1	0	.	GRCh38	chr5	180792398	180792398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggaagacctggcccagcgCccagcggtagtggcgcgcga	7	3	16	15	6	0	1	0	0	0	1	0	3	0	2	4	4	2	1	4	4	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.574G>T	p.Ala192Ser	p.A192S	ENST00000333055	3/3	68	51	17	77	77	0	strelka-varscan-mutect	MGAT1,missense_variant,p.Ala192Ser,ENST00000333055,;MGAT1,missense_variant,p.Ala192Ser,ENST00000446023,NM_001114618.1;MGAT1,missense_variant,p.Ala192Ser,ENST00000393340,NM_001114617.1;MGAT1,missense_variant,p.Ala192Ser,ENST00000307826,NM_002406.3;MGAT1,missense_variant,p.Ala192Ser,ENST00000427865,NM_001114620.1,NM_001114619.1;MGAT1,missense_variant,p.Ala192Ser,ENST00000504671,;MGAT1,downstream_gene_variant,,ENST00000506889,;MGAT1,downstream_gene_variant,,ENST00000502678,;MGAT1,downstream_gene_variant,,ENST00000514283,;MGAT1,downstream_gene_variant,,ENST00000514438,;MGAT1,downstream_gene_variant,,ENST00000507384,;MGAT1,downstream_gene_variant,,ENST00000506269,;MGAT1,downstream_gene_variant,,ENST00000513431,;MGAT1,downstream_gene_variant,,ENST00000512695,;MGAT1,downstream_gene_variant,,ENST00000514760,;MGAT1,downstream_gene_variant,,ENST00000504385,;MGAT1,downstream_gene_variant,,ENST00000505682,;	A	ENST00000333055	Transcript	missense_variant	1247/8863	574/1338	192/445	A/S	Gcg/Tcg		1		-1	MGAT1	HGNC	HGNC:7044	protein_coding	YES	CCDS4458.1	ENSP00000332073	P26572		UPI000013CDF1				3/3		Gene3D:3.90.550.10,Pfam_domain:PF03071,hmmpanther:PTHR10468,hmmpanther:PTHR10468:SF0,Superfamily_domains:SSF53448																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	90	180792398	180792398	C	A	1	0	0	0	0	1	0	0	0	9502	739	26	2		2	MGAT1	5	180792398	Missense_Mutation	SNP	C	C3N-02089_TP	4200935	180792398	745861	328	29125											
FOXF2	0	.	GRCh38	chr6	1390234	1390234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgagctcggggctgcGgcggcccgagaagccgccct	6	3	18	14	6	0	1	0	0	0	1	1	4	0	1	3	5	3	2	3	5	2	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.287G>C	p.Arg96Pro	p.R96P	ENST00000259806	1/2	187	128	59	175	175	0	strelka-varscan-mutect	FOXF2,missense_variant,p.Arg96Pro,ENST00000259806,NM_001452.1;MIR6720,downstream_gene_variant,,ENST00000611664,;	C	ENST00000259806	Transcript	missense_variant	401/2187	287/1335	96/444	R/P	cGg/cCg		1		1	FOXF2	HGNC	HGNC:3810	protein_coding	YES	CCDS4472.1	ENSP00000259806	Q12947		UPI000012ADD6	NM_001452.1	deleterious(0.01)		1/2		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF224,Gene3D:1.10.10.10																	MODERATE	1	SNV	1			1										PASS		rs1227693674	.												C	3	2	90	1390234	1390234	G	C	1	0	0	0	0	1	0	0	0	5868	1116	39	4		4	FOXF2	6	1390234	Missense_Mutation	SNP	G	C3N-02089_TP		1390234	169415745	329	29126											
WRNIP1	0	.	GRCh38	chr6	2766273	2766273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggcgctggctgccgaggaGatccgacagatgctacaggg	8	5	17	11	4	0	2	0	0	0	2	1	5	1	2	2	4	3	3	2	4	1	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.651G>C	p.Glu217Asp	p.E217D	ENST00000380773	1/7	144	131	13	130	130	0	strelka-varscan-mutect	WRNIP1,missense_variant,p.Glu217Asp,ENST00000380773,;WRNIP1,missense_variant,p.Glu217Asp,ENST00000618555,NM_020135.2;WRNIP1,missense_variant,p.Glu217Asp,ENST00000380771,NM_130395.2;WRNIP1,5_prime_UTR_variant,,ENST00000380769,;WRNIP1,upstream_gene_variant,,ENST00000380764,;	C	ENST00000380773	Transcript	missense_variant	860/2670	651/1998	217/665	E/D	gaG/gaC		1		1	WRNIP1	HGNC	HGNC:20876	protein_coding	YES	CCDS4475.1	ENSP00000370150	Q96S55		UPI000004A506		tolerated(0.22)		1/7		Gene3D:3.40.50.300,hmmpanther:PTHR13779,hmmpanther:PTHR13779:SF7																	MODERATE	1	SNV	1			1										PASS		rs1290032226	.												C	3	2	90	2766273	2766273	G	C	1	0	0	0	0	1	0	0	0	17960	933	33	4		4	WRNIP1	6	2766273	Missense_Mutation	SNP	G	C3N-02089_TP	1376039	2766273	168039706	330	29127											
ECI2	0	.	GRCh38	chr6	4126190	4126190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactccaccagggggaatatCagtgaagttagtcagatcat	13	10	10	8	0	3	2	3	1	0	1	4	3	4	3	2	2	1	1	2	2	5	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.619G>A	p.Asp207Asn	p.D207N	ENST00000380118	6/10	116	107	9	145	145	0	strelka-varscan-mutect	ECI2,missense_variant,p.Asp177Asn,ENST00000465828,;ECI2,missense_variant,p.Asp207Asn,ENST00000380118,NM_206836.2;ECI2,missense_variant,p.Asp177Asn,ENST00000380125,NM_001166010.1;ECI2,missense_variant,p.Asp177Asn,ENST00000361538,NM_006117.2;C6orf201,intron_variant,,ENST00000380175,NM_001085401.2;ECI2,downstream_gene_variant,,ENST00000495548,;C6orf201,intron_variant,,ENST00000496987,;ECI2,3_prime_UTR_variant,,ENST00000380120,;ECI2,3_prime_UTR_variant,,ENST00000496241,;ECI2,non_coding_transcript_exon_variant,,ENST00000464583,;ECI2,non_coding_transcript_exon_variant,,ENST00000464057,;C6orf201,intron_variant,,ENST00000436110,;C6orf201,intron_variant,,ENST00000427996,;ECI2,intron_variant,,ENST00000478266,;C6orf201,intron_variant,,ENST00000451679,;ECI2,downstream_gene_variant,,ENST00000489086,;	T	ENST00000380118	Transcript	missense_variant	656/1407	619/1185	207/394	D/N	Gat/Aat		1		-1	ECI2	HGNC	HGNC:14601	protein_coding	YES	CCDS43420.2	ENSP00000369461	O75521		UPI000004ECA9	NM_206836.2	tolerated(0.91)		6/10		hmmpanther:PTHR23310:SF72,hmmpanther:PTHR23310,Gene3D:3.90.226.10,Pfam_domain:PF00378,Superfamily_domains:SSF52096																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	4126190	4126190	C	T	1	0	0	0	0	1	0	0	0	4724	826	29	3		3	ECI2	6	4126190	Missense_Mutation	SNP	C	C3N-02089_TP	1359917	4126190	166679789	331	29128											
ECI2	0	.	GRCh38	chr6	4126207	4126207	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagtgaagttagtcagaTcattcccactactgtaatag	13	13	7	8	0	3	2	3	1	0	1	4	2	4	2	1	0	1	2	1	0	6	6	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.602A>T	p.Asp201Val	p.D201V	ENST00000380118	6/10	116	99	17	141	141	0	strelka-varscan-mutect	ECI2,missense_variant,p.Asp171Val,ENST00000465828,;ECI2,missense_variant,p.Asp201Val,ENST00000380118,NM_206836.2;ECI2,missense_variant,p.Asp171Val,ENST00000380125,NM_001166010.1;ECI2,missense_variant,p.Asp171Val,ENST00000361538,NM_006117.2;C6orf201,intron_variant,,ENST00000380175,NM_001085401.2;ECI2,downstream_gene_variant,,ENST00000495548,;C6orf201,intron_variant,,ENST00000496987,;ECI2,3_prime_UTR_variant,,ENST00000380120,;ECI2,3_prime_UTR_variant,,ENST00000496241,;ECI2,non_coding_transcript_exon_variant,,ENST00000464583,;ECI2,non_coding_transcript_exon_variant,,ENST00000464057,;C6orf201,intron_variant,,ENST00000436110,;C6orf201,intron_variant,,ENST00000427996,;ECI2,intron_variant,,ENST00000478266,;C6orf201,intron_variant,,ENST00000451679,;ECI2,downstream_gene_variant,,ENST00000489086,;	A	ENST00000380118	Transcript	missense_variant	639/1407	602/1185	201/394	D/V	gAt/gTt		1		-1	ECI2	HGNC	HGNC:14601	protein_coding	YES	CCDS43420.2	ENSP00000369461	O75521		UPI000004ECA9	NM_206836.2	deleterious(0)		6/10		hmmpanther:PTHR23310:SF72,hmmpanther:PTHR23310,Gene3D:3.90.226.10,Pfam_domain:PF00378,Superfamily_domains:SSF52096																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	4126207	4126207	T	A	1	0	0	0	0	1	0	0	0	4724	1435	50	4		4	ECI2	6	4126207	Missense_Mutation	SNP	T	C3N-02089_TP	17	4126207	166679772	332	29129											
LYRM4	0	.	GRCh38	chr6	5216654	5216654	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaggtctctcttggctttAttcactagggtttgaatttc	7	17	8	9	0	3	1	1	1	2	0	5	1	3	1	1	3	0	2	1	3	4	7	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.171T>C	p.=	p.N57N	ENST00000500576	2/3	314	287	27	369	369	0	strelka-varscan-mutect	LYRM4,synonymous_variant,p.=,ENST00000330636,NM_020408.5;LYRM4,synonymous_variant,p.=,ENST00000464010,NM_001164841.2;LYRM4,synonymous_variant,p.=,ENST00000480566,;LYRM4,synonymous_variant,p.=,ENST00000500576,NM_001164840.2;LYRM4,intron_variant,,ENST00000468929,;LYRM4,synonymous_variant,p.=,ENST00000463032,;	G	ENST00000500576	Transcript	synonymous_variant	175/592	171/393	57/130	N	aaT/aaC		1		-1	LYRM4	HGNC	HGNC:21365	protein_coding	YES	CCDS54962.1	ENSP00000443900		F5H189	UPI0001B71BCB	NM_001164840.2			2/3		Pfam_domain:PF05347																	LOW	1	SNV	2			1										PASS		.	.												G	2	3	90	5216654	5216654	A	G	1	0	0	0	0	0	0	0	1	9033	446	16	5		5	LYRM4	6	5216654	Silent	SNP	A	C3N-02089_TP	1090447	5216654	165589325	333	29130											
JARID2	0	.	GRCh38	chr6	15501152	15501152	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatggagaaggagatcctgGagaagcgcaaggggccgctg	11	5	18	7	2	0	4	0	1	0	3	1	7	1	4	2	5	1	2	2	5	3	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2191G>T	p.Glu731Ter	p.E731*	ENST00000341776	8/18	232	152	80	184	183	1	strelka-varscan-mutect	JARID2,stop_gained,p.Glu731Ter,ENST00000341776,NM_004973.3;JARID2,stop_gained,p.Glu559Ter,ENST00000397311,NM_001267040.1;JARID2,upstream_gene_variant,,ENST00000474854,;	T	ENST00000341776	Transcript	stop_gained	2435/5755	2191/3741	731/1246	E/*	Gag/Tag		1		1	JARID2	HGNC	HGNC:6196	protein_coding	YES	CCDS4533.1	ENSP00000341280	Q92833		UPI0000161C67	NM_004973.3			8/18		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF44																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	90	15501152	15501152	G	T	1	0	0	0	0	0	1	0	0	7859	1175	41	2		2	JARID2	6	15501152	Nonsense_Mutation	SNP	G	C3N-02089_TP	10284498	15501152	155304827	334	29131											
HDGFL1	0	.	GRCh38	chr6	22569713	22569713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttttcttcgggacccaCgagacggccttcctgagtcc	5	12	11	13	3	1	2	0	1	1	1	4	4	3	3	4	2	0	1	4	2	0	4	rs534892452		C3N-02089_TP	C3N-02089_NB	C	C																c.138C>A	p.His46Gln	p.H46Q	ENST00000510882	1/1	382	339	43	329	328	1	strelka-varscan-mutect	HDGFL1,missense_variant,p.His46Gln,ENST00000510882,NM_138574.2;	A	ENST00000510882	Transcript	missense_variant	221/2174	138/756	46/251	H/Q	caC/caA	rs534892452	1		1	HDGFL1	HGNC	HGNC:21095	protein_coding	YES	CCDS34347.1	ENSP00000442129	Q5TGJ6	A0A140VJK8	UPI0000039B1A	NM_138574.2	deleterious(0)		1/1		PROSITE_profiles:PS50812,hmmpanther:PTHR12550,hmmpanther:PTHR12550:SF48,Pfam_domain:PF00855,Gene3D:2.30.30.160,SMART_domains:SM00293,Superfamily_domains:SSF63748																	MODERATE	1	SNV				1										PASS		rs534892452	.												A	3	1	90	22569713	22569713	C	A	1	0	0	0	0	1	0	0	0	6906	535	19	1		1	HDGFL1	6	22569713	Missense_Mutation	SNP	C	C3N-02089_TP	7068561	22569713	148236266	335	29132											
HIST1H3C	0	.	GRCh38	chr6	26045699	26045699	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggcgctgcaggaggctTgtgaggcctacctggtggga	6	9	18	8	1	0	2	0	2	0	0	0	4	0	4	2	6	2	3	2	6	1	2	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.289T>A	p.Cys97Ser	p.C97S	ENST00000612966	1/1	331	301	30	350	350	0	strelka-varscan-mutect	HIST1H3C,missense_variant,p.Cys97Ser,ENST00000612966,NM_003531.2;HIST1H2BB,upstream_gene_variant,,ENST00000615966,NM_021062.2;U91328.2,downstream_gene_variant,,ENST00000454320,;	A	ENST00000612966	Transcript	missense_variant	289/411	289/411	97/136	C/S	Tgt/Agt		1		1	HIST1H3C	HGNC	HGNC:4768	protein_coding	YES	CCDS4576.1	ENSP00000484658	P68431		UPI00000003C7	NM_003531.2	tolerated_low_confidence(1)		1/1		hmmpanther:PTHR11426,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	90	26045699	26045699	T	A	1	0	0	0	0	1	0	0	0	7045	1812	63	4		4	HIST1H3C	6	26045699	Missense_Mutation	SNP	T	C3N-02089_TP	3475986	26045699	144760280	336	29133											
HIST1H4G	0	.	GRCh38	chr6	26246956	26246956	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttcccaaggccttttcCggccttgccccgaacagaca	7	9	8	17	2	0	1	0	0	0	1	2	2	2	1	7	2	2	0	7	2	2	4	rs201241505		C3N-02089_TP	C3N-02089_NB	C	C																c.22G>T	p.Gly8Ter	p.G8*	ENST00000611444	1/1	66	49	17	58	58	0	strelka-varscan-mutect	HIST1H4G,stop_gained,p.Gly8Ter,ENST00000611444,NM_003547.2;HIST1H2BH,upstream_gene_variant,,ENST00000619466,NM_003524.2;HIST1H3F,downstream_gene_variant,,ENST00000618052,NM_021018.2;	A	ENST00000611444	Transcript	stop_gained	22/297	22/297	8/98	G/*	Gga/Tga	rs201241505	1		-1	HIST1H4G	HGNC	HGNC:4792	protein_coding	YES	CCDS4599.1	ENSP00000477870	Q99525		UPI000006D7D1	NM_003547.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR10484:SF20,hmmpanther:PTHR10484,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00623																	HIGH	1	SNV				1										PASS		rs201241505	.												A	4	1	90	26246956	26246956	C	A	1	0	0	0	0	0	1	0	0	7059	661	23	1		1	HIST1H4G	6	26246956	Nonsense_Mutation	SNP	C	C3N-02089_TP	201257	26246956	144559023	337	29134											
POM121L2	0	.	GRCh38	chr6	27311313	27311313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacaacttttttcctttttTattggccactctggtgtctc	5	20	6	10	0	2	1	0	1	2	0	4	1	3	1	2	2	1	0	2	2	2	7			C3N-02089_TP	C3N-02089_NB	T	T																c.858A>G	p.Ile286Met	p.I286M	ENST00000444565	1/1	273	233	40	303	303	0	strelka-varscan-mutect	POM121L2,missense_variant,p.Ile286Met,ENST00000444565,NM_033482.3;POM121L2,upstream_gene_variant,,ENST00000429945,;	C	ENST00000444565	Transcript	missense_variant	858/3108	858/3108	286/1035	I/M	atA/atG	COSM4625733	1		-1	POM121L2	HGNC	HGNC:13973	protein_coding	YES	CCDS59497.1	ENSP00000392726	Q96KW2		UPI0000198C27	NM_033482.3	tolerated(0.09)		1/1		Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20											1						MODERATE	1	SNV			1	1										PASS		.	.												C	3	2	90	27311313	27311313	T	C	1	0	0	0	0	1	0	0	0	12353	1744	61	5		5	POM121L2	6	27311313	Missense_Mutation	SNP	T	C3N-02089_TP	1064357	27311313	143494666	338	29135											
HIST1H2BM	0	.	GRCh38	chr6	27815418	27815418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccaagtataccagctcCaagtgagcctctcgctgcag	10	8	9	14	1	2	1	1	1	1	0	4	1	3	1	4	0	4	4	4	0	4	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.375C>T	p.=	p.S125S	ENST00000621112	1/1	122	90	32	156	156	0	strelka-mutect	HIST1H2BM,synonymous_variant,p.=,ENST00000621112,NM_003521.2;HIST1H3H,downstream_gene_variant,,ENST00000369163,NM_003536.2;HIST1H2AJ,upstream_gene_variant,,ENST00000333151,NM_021066.2;	T	ENST00000621112	Transcript	synonymous_variant	375/381	375/381	125/126	S	tcC/tcT		1		1	HIST1H2BM	HGNC	HGNC:4750	protein_coding	YES	CCDS4629.1	ENSP00000477907	Q99879		UPI0000001BD7	NM_003521.2			1/1		hmmpanther:PTHR23428,Gene3D:1.10.20.10,Superfamily_domains:SSF47113																	LOW	1	SNV				1										PASS		.	.												T	2	4	90	27815418	27815418	C	T	1	0	0	0	0	0	0	0	1	7040	581	21	3		3	HIST1H2BM	6	27815418	Silent	SNP	C	C3N-02089_TP	504105	27815418	142990561	339	29136											
ZBED9	0	.	GRCh38	chr6	28575319	28575319	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttggcaggtctgagacttCccatggacaattttcaattc	9	14	8	10	0	2	1	1	1	1	1	4	3	3	2	1	3	0	1	1	3	2	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1386G>T	p.=	p.G462G	ENST00000452236	3/4	200	175	25	198	198	0	strelka-varscan-mutect	ZBED9,synonymous_variant,p.=,ENST00000452236,NM_052923.1;ZBED9,downstream_gene_variant,,ENST00000530247,;	A	ENST00000452236	Transcript	synonymous_variant	2004/4877	1386/3978	462/1325	G	ggG/ggT		1		-1	ZBED9	HGNC	HGNC:13851	protein_coding	YES	CCDS34355.1	ENSP00000395259	Q6R2W3		UPI00001618B7	NM_052923.1			3/4		PROSITE_profiles:PS50994,Gene3D:3.30.420.10,Superfamily_domains:SSF53098																	LOW	1	SNV	1			1										PASS		rs1190845655	.												A	2	1	90	28575319	28575319	C	A	1	0	0	0	0	0	0	0	1	18086	842	30	2		2	ZBED9	6	28575319	Silent	SNP	C	C3N-02089_TP	759901	28575319	142230660	340	29137											
TRIM10	0	.	GRCh38	chr6	30154440	30154440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgctggtggtcctcggaCaagaggagcttggggtggga	6	8	19	8	2	0	1	0	0	0	1	3	4	1	4	1	7	1	3	1	7	1	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.975G>T	p.Leu325Phe	p.L325F	ENST00000449742	7/7	148	132	16	127	127	0	strelka-varscan-mutect	TRIM10,missense_variant,p.Leu325Phe,ENST00000449742,NM_006778.3;TRIM10,missense_variant,p.Leu325Phe,ENST00000376704,NM_052828.2;	A	ENST00000449742	Transcript	missense_variant	1051/3546	975/1446	325/481	L/F	ttG/ttT		1		-1	TRIM10	HGNC	HGNC:10072	protein_coding	YES	CCDS34375.1	ENSP00000397073	Q9UDY6		UPI000000D736	NM_006778.3	deleterious(0)		7/7		Pfam_domain:PF13765,Prints_domain:PR01407,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF329,SMART_domains:SM00589,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	30154440	30154440	C	A	1	0	0	0	0	1	0	0	0	16975	477	17	2		2	TRIM10	6	30154440	Missense_Mutation	SNP	C	C3N-02089_TP	1579121	30154440	140651539	341	29138											
MDC1	0	.	GRCh38	chr6	30700498	30700498	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccaaaggggagaggacAaaggcctctggcttggcttc	10	8	13	10	0	2	1	0	0	2	1	4	3	2	2	2	6	0	2	2	6	2	2	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.6237T>C	p.=	p.F2079F	ENST00000376406	15/15	130	90	40	113	113	0	strelka-varscan-mutect	MDC1,synonymous_variant,p.=,ENST00000376406,NM_014641.2;MDC1,downstream_gene_variant,,ENST00000417033,;MDC1-AS1,upstream_gene_variant,,ENST00000442150,;MDC1,non_coding_transcript_exon_variant,,ENST00000489540,;RPL7P4,upstream_gene_variant,,ENST00000430239,;	G	ENST00000376406	Transcript	synonymous_variant	6885/7576	6237/6270	2079/2089	F	ttT/ttC		1		-1	MDC1	HGNC	HGNC:21163	protein_coding	YES	CCDS34384.1	ENSP00000365588	Q14676		UPI00001AF453	NM_014641.2			15/15		hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF1																	LOW		SNV	5			1										PASS		.	.												G	2	3	90	30700498	30700498	A	G	1	0	0	0	0	0	0	0	1	9341	127	5	5		5	MDC1	6	30700498	Silent	SNP	A	C3N-02089_TP	546058	30700498	140105481	342	29139											
MUC21	0	.	GRCh38	chr6	30986838	30986838	+	Silent	SNP	G	G	T																															tccagaacgacctccaatggGgctggcacagccaccaactc																								novel		C3N-02089_TP	C3N-02089_NB	G	G																c.663G>T	p.=	p.G221G	ENST00000376296	2/3	655	453	202	640	640	0	strelka-varscan-mutect	MUC21,synonymous_variant,p.=,ENST00000376296,NM_001010909.3;MUC21,5_prime_UTR_variant,,ENST00000486149,;	T	ENST00000376296	Transcript	synonymous_variant	904/3651	663/1701	221/566	G	ggG/ggT		1		1	MUC21	HGNC	HGNC:21661	protein_coding	YES	CCDS34388.1	ENSP00000365473	Q5SSG8		UPI000047030C	NM_001010909.3			2/3		Pfam_domain:PF05647,Pfam_domain:PF05647,hmmpanther:PTHR39408,hmmpanther:PTHR39408:SF1,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	30986838	30986838	G	T	1	0	0	0	0	0	0	0	1	9975	1219	43	2		2	MUC21	6	30986838	Silent	SNP	G	C3N-02089_TP	286340	30986838	139819141	343	29140	607	2									
MUC21	0	.	GRCh38	chr6	30986839	30986839	+	Missense_Mutation	SNP	G	G	T																															ccagaacgacctccaatgggGctggcacagccaccaactct																								novel		C3N-02089_TP	C3N-02089_NB	G	G																c.664G>T	p.Ala222Ser	p.A222S	ENST00000376296	2/3	657	453	204	638	637	1	strelka-varscan-mutect	MUC21,missense_variant,p.Ala222Ser,ENST00000376296,NM_001010909.3;MUC21,5_prime_UTR_variant,,ENST00000486149,;	T	ENST00000376296	Transcript	missense_variant	905/3651	664/1701	222/566	A/S	Gct/Tct		1		1	MUC21	HGNC	HGNC:21661	protein_coding	YES	CCDS34388.1	ENSP00000365473	Q5SSG8		UPI000047030C	NM_001010909.3	tolerated(0.6)		2/3		Pfam_domain:PF05647,Pfam_domain:PF05647,hmmpanther:PTHR39408,hmmpanther:PTHR39408:SF1,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs772843697	.												T	3	4	90	30986839	30986839	G	T	1	0	0	0	0	1	0	0	0	9975	1203	42	2		2	MUC21	6	30986839	Missense_Mutation	SNP	G	C3N-02089_TP	1	30986839	139819140	344	29141	607	2									
COL11A2	0	.	GRCh38	chr6	33164869	33164869	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctgcgtgacgtcatcccTaggcgtcacacaggtctcac	8	8	9	16	3	3	1	3	1	1	0	5	1	4	1	2	2	1	0	2	2	1	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.4588A>G	p.Arg1530Gly	p.R1530G	ENST00000374708	62/64	67	46	21	15	15	0	strelka-varscan-mutect	COL11A2,missense_variant,p.Arg1616Gly,ENST00000341947,NM_080680.2;COL11A2,missense_variant,p.Arg1530Gly,ENST00000374708,NM_080681.2;COL11A2,missense_variant,p.Arg1509Gly,ENST00000361917,NM_080679.2;COL11A2,non_coding_transcript_exon_variant,,ENST00000477772,;	C	ENST00000374708	Transcript	missense_variant	4847/6209	4588/4953	1530/1650	R/G	Agg/Ggg		1		-1	COL11A2	HGNC	HGNC:2187	protein_coding	YES	CCDS43452.1	ENSP00000363840		Q4VXY6	UPI000013E9A5	NM_080681.2	tolerated(0.05)		62/64		Pfam_domain:PF01410,PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF509,SMART_domains:SM00038																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	90	33164869	33164869	T	C	1	0	0	0	0	1	0	0	0	3456	1521	53	5		5	COL11A2	6	33164869	Missense_Mutation	SNP	T	C3N-02089_TP	2178030	33164869	137641110	345	29142											
TRERF1	0	.	GRCh38	chr6	42259394	42259394	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggggcgtcaggggcagctgCgggtgggcgccagggccgtg	4	4	23	10	4	1	0	1	0	0	0	1	0	1	0	2	7	2	2	2	7	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2274G>T	p.=	p.P758P	ENST00000541110	9/18	42	23	19	63	63	0	strelka-varscan-mutect	TRERF1,synonymous_variant,p.=,ENST00000541110,NM_001297573.1,NM_001297574.1;TRERF1,synonymous_variant,p.=,ENST00000372922,NM_033502.3;TRERF1,synonymous_variant,p.=,ENST00000340840,;TRERF1,synonymous_variant,p.=,ENST00000354325,;TRERF1,synonymous_variant,p.=,ENST00000372917,;	A	ENST00000541110	Transcript	synonymous_variant	2843/7646	2274/3663	758/1220	P	ccG/ccT		1		-1	TRERF1	HGNC	HGNC:18273	protein_coding	YES	CCDS75455.1	ENSP00000439689		Q05GC8	UPI000022CBC8	NM_001297573.1,NM_001297574.1			9/18		hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF19,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1249808642	.												A	2	1	90	42259394	42259394	C	A	1	0	0	0	0	0	0	0	1	16964	755	27	1		1	TRERF1	6	42259394	Silent	SNP	C	C3N-02089_TP	9094525	42259394	128546585	346	29143											
ADGRF5	0	.	GRCh38	chr6	46856779	46856779	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaaagcttcctgtaccTgcattgttaaaaagaagcta	14	11	7	9	0	1	1	1	0	0	1	2	1	2	1	2	0	5	6	2	0	7	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.3817-2A>G		p.X1273_splice	ENST00000283296		149	136	13	167	167	0	varscan-mutect	ADGRF5,splice_acceptor_variant,,ENST00000283296,NM_001098518.1;ADGRF5,splice_acceptor_variant,,ENST00000265417,NM_015234.4;ADGRF5,downstream_gene_variant,,ENST00000498632,;	C	ENST00000283296	Transcript	splice_acceptor_variant	-/5810	3817/4041	1273/1346				1		-1	ADGRF5	HGNC	HGNC:19030	protein_coding	YES	CCDS4919.1	ENSP00000283296	Q8IZF2		UPI000007075A	NM_001098518.1				18/20																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	90	46856779	46856779	T	C	1	0	0	0	0	0	0	1	0	367	1594	55	5		5	ADGRF5	6	46856779	Splice_Site	SNP	T	C3N-02089_TP	4597385	46856779	123949200	347	29144											
OPN5	0	.	GRCh38	chr6	47808352	47808352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttgcctgttgccaaactGgtggtttgaaagcaaccaag	12	11	10	8	0	0	1	0	1	0	0	0	1	0	1	3	2	5	3	3	2	5	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.955G>C	p.Gly319Arg	p.G319R	ENST00000371211	5/7	215	187	28	158	158	0	strelka-varscan-mutect	OPN5,missense_variant,p.Gly319Arg,ENST00000489301,;OPN5,missense_variant,p.Gly319Arg,ENST00000371211,NM_181744.3;OPN5,missense_variant,p.Gly319Arg,ENST00000393699,;OPN5,non_coding_transcript_exon_variant,,ENST00000244799,;	C	ENST00000371211	Transcript	missense_variant	983/1801	955/1065	319/354	G/R	Ggt/Cgt		1		1	OPN5	HGNC	HGNC:19992	protein_coding	YES	CCDS4923.1	ENSP00000360255	Q6U736		UPI0000223E5B	NM_181744.3	tolerated_low_confidence(0.46)		5/7		hmmpanther:PTHR24240:SF0,hmmpanther:PTHR24240																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	47808352	47808352	G	C	1	0	0	0	0	1	0	0	0	10959	1348	47	4		4	OPN5	6	47808352	Missense_Mutation	SNP	G	C3N-02089_TP	951573	47808352	122997627	348	29145											
MUT	0	.	GRCh38	chr6	49453707	49453707	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttctaccagctctcatctTtgctatttccatatagaaat	10	17	3	11	0	4	1	1	0	4	1	6	1	5	1	2	0	3	2	2	0	5	7	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.961A>T	p.Lys321Ter	p.K321*	ENST00000274813	5/13	203	184	19	228	227	1	strelka-varscan-mutect	MUT,stop_gained,p.Lys321Ter,ENST00000274813,NM_000255.3;	A	ENST00000274813	Transcript	stop_gained	1089/3749	961/2253	321/750	K/*	Aag/Tag		1		-1	MUT	HGNC	HGNC:7526	protein_coding	YES	CCDS4924.1	ENSP00000274813	P22033	A0A024RD82	UPI000013DA28	NM_000255.3			5/13		hmmpanther:PTHR23408,hmmpanther:PTHR23408:SF1,Gene3D:3.20.20.240,TIGRFAM_domain:TIGR00641,Pfam_domain:PF01642,Superfamily_domains:SSF51703																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	90	49453707	49453707	T	A	1	0	0	0	0	0	1	0	0	9989	1850	64	4		4	MUT	6	49453707	Nonsense_Mutation	SNP	T	C3N-02089_TP	1645355	49453707	121352272	349	29146											
CRISP1	0	.	GRCh38	chr6	49846549	49846549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggtcagtagttatgtcatCatccgttgttgtccattctc	6	17	9	9	1	4	0	3	0	1	0	7	0	6	0	2	1	0	4	2	1	2	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.406G>C	p.Asp136His	p.D136H	ENST00000335847	5/8	133	113	20	111	111	0	strelka-varscan-mutect	CRISP1,missense_variant,p.Asp136His,ENST00000335847,NM_001131.2;CRISP1,missense_variant,p.Asp136His,ENST00000507853,NM_170609.1;CRISP1,missense_variant,p.Asp136His,ENST00000329411,;CRISP1,missense_variant,p.Asp136His,ENST00000505118,NM_001205220.1;	G	ENST00000335847	Transcript	missense_variant	508/1911	406/750	136/249	D/H	Gat/Cat		1		-1	CRISP1	HGNC	HGNC:304	protein_coding	YES	CCDS4931.1	ENSP00000338276	P54107	A0A0K0K1I1	UPI0000128482	NM_001131.2	deleterious(0.03)		5/8		Low_complexity_(Seg):seg,hmmpanther:PTHR10334:SF213,hmmpanther:PTHR10334,Gene3D:3.40.33.10,Pfam_domain:PF00188,SMART_domains:SM00198,Superfamily_domains:SSF55797																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	49846549	49846549	C	G	1	0	0	0	0	1	0	0	0	3680	826	29	4		4	CRISP1	6	49846549	Missense_Mutation	SNP	C	C3N-02089_TP	392842	49846549	120959430	350	29147											
PKHD1	0	.	GRCh38	chr6	52025477	52025477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggtcaccctccaggctaaCctggcagagaatggtgtggt	8	8	15	10	0	1	1	1	0	0	1	2	2	2	1	3	6	1	2	3	6	2	1	rs751965771		C3N-02089_TP	C3N-02089_NB	C	C																c.4333G>T	p.Val1445Phe	p.V1445F	ENST00000371117	32/67	78	50	28	97	97	0	strelka-mutect	PKHD1,missense_variant,p.Val1445Phe,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Val1445Phe,ENST00000340994,NM_170724.2;	A	ENST00000371117	Transcript	missense_variant	4609/16282	4333/12225	1445/4074	V/F	Gtt/Ttt	rs751965771,COSM5654073,COSM5654074	1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3	deleterious(0.03)		32/67		Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs751965771	.												A	3	1	90	52025477	52025477	C	A	1	0	0	0	0	1	0	0	0	12067	507	18	2		2	PKHD1	6	52025477	Missense_Mutation	SNP	C	C3N-02089_TP	2178928	52025477	118780502	351	29148											
PKHD1	0	.	GRCh38	chr6	52028305	52028305	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacttccacatccaaatcCgtatagttcatcagcctcgc	10	11	6	14	2	2	0	2	0	0	0	6	1	5	1	4	1	1	2	4	1	3	4	rs138350291		C3N-02089_TP	C3N-02089_NB	C	C																c.3411G>T	p.=	p.T1137T	ENST00000371117	30/67	396	269	127	377	376	1	strelka-varscan-mutect	PKHD1,synonymous_variant,p.=,ENST00000371117,NM_138694.3;PKHD1,synonymous_variant,p.=,ENST00000340994,NM_170724.2;	A	ENST00000371117	Transcript	synonymous_variant	3687/16282	3411/12225	1137/4074	T	acG/acT	rs138350291,COSM1080197,COSM1596396	1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3			30/67		Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs138350291	.												A	2	1	90	52028305	52028305	C	A	1	0	0	0	0	0	0	0	1	12067	639	23	1		1	PKHD1	6	52028305	Silent	SNP	C	C3N-02089_TP	2828	52028305	118777674	352	29149											
PKHD1	0	.	GRCh38	chr6	52042892	52042892	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggaaggctccaccatatCcagtctaggtttcacattta	10	13	7	11	0	3	0	1	0	2	0	5	1	5	1	3	3	0	2	3	3	4	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.3064G>T	p.Asp1022Tyr	p.D1022Y	ENST00000371117	27/67	184	124	60	234	234	0	strelka-varscan-mutect	PKHD1,missense_variant,p.Asp1022Tyr,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Asp1022Tyr,ENST00000340994,NM_170724.2;	A	ENST00000371117	Transcript	missense_variant	3340/16282	3064/12225	1022/4074	D/Y	Gat/Tat		1		-1	PKHD1	HGNC	HGNC:9016	protein_coding	YES	CCDS4935.1	ENSP00000360158	P08F94		UPI000013C4C0	NM_138694.3	deleterious(0.04)		27/67		Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		rs1257425837	.												A	3	1	90	52042892	52042892	C	A	1	0	0	0	0	1	0	0	0	12067	855	30	2		2	PKHD1	6	52042892	Missense_Mutation	SNP	C	C3N-02089_TP	14587	52042892	118763087	353	29150											
FAM83B	0	.	GRCh38	chr6	54941068	54941068	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagacaaccagaaaagccCaaagaagatttgctgaaaag	19	6	9	7	0	0	5	0	1	0	4	0	5	0	5	2	0	3	2	2	0	8	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2097C>A	p.=	p.P699P	ENST00000306858	5/5	126	111	15	121	120	1	strelka-varscan-mutect	FAM83B,synonymous_variant,p.=,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;	A	ENST00000306858	Transcript	synonymous_variant	2213/3167	2097/3036	699/1011	P	ccC/ccA		1		1	FAM83B	HGNC	HGNC:21357	protein_coding	YES	CCDS34479.1	ENSP00000304078	Q5T0W9		UPI00001D81EC	NM_001010872.2			5/5		hmmpanther:PTHR16181:SF4,hmmpanther:PTHR16181																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	54941068	54941068	C	A	1	0	0	0	0	0	0	0	1	5492	581	21	2		2	FAM83B	6	54941068	Silent	SNP	C	C3N-02089_TP	2898176	54941068	115864911	354	29151											
HMGCLL1	0	.	GRCh38	chr6	55495523	55495523	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcacactttccaacattcTtttcatacttcctggagttc	9	16	3	13	0	3	0	2	0	1	0	6	1	5	1	2	1	2	1	2	1	2	7	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.781A>T	p.Arg261Ter	p.R261*	ENST00000398661	8/10	154	130	24	164	164	0	strelka-varscan-mutect	HMGCLL1,stop_gained,p.Arg261Ter,ENST00000398661,NM_019036.2;HMGCLL1,stop_gained,p.Arg231Ter,ENST00000274901,NM_001287746.1,NM_001042406.1;HMGCLL1,stop_gained,p.Arg199Ter,ENST00000308161,NM_001287741.1;HMGCLL1,stop_gained,p.Arg128Ter,ENST00000370850,NM_001287753.1;HMGCLL1,intron_variant,,ENST00000508459,;HMGCLL1,3_prime_UTR_variant,,ENST00000370852,;	A	ENST00000398661	Transcript	stop_gained	913/2532	781/1113	261/370	R/*	Aga/Tga		1		-1	HMGCLL1	HGNC	HGNC:21359	protein_coding	YES	CCDS43475.1	ENSP00000381654	Q8TB92		UPI000023780E	NM_019036.2			8/10		Gene3D:3.20.20.70,Pfam_domain:PF00682,PROSITE_profiles:PS50991,hmmpanther:PTHR10277,hmmpanther:PTHR10277:SF33,Superfamily_domains:SSF51569																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	90	55495523	55495523	T	A	1	0	0	0	0	0	1	0	0	7122	1617	56	4		4	HMGCLL1	6	55495523	Nonsense_Mutation	SNP	T	C3N-02089_TP	554455	55495523	115310456	355	29152											
LGSN	0	.	GRCh38	chr6	63280110	63280110	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catggcaacaaaatatcgaaTaaaggtttctcctagagcct	15	10	7	9	1	1	1	0	0	1	1	3	2	1	1	2	2	2	2	2	2	8	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1441A>C	p.Ile481Leu	p.I481L	ENST00000370657	4/4	190	167	23	201	201	0	strelka-varscan-mutect	LGSN,missense_variant,p.Ile481Leu,ENST00000370657,NM_016571.2;LGSN,3_prime_UTR_variant,,ENST00000370658,NM_001143940.1;LGSN,3_prime_UTR_variant,,ENST00000622415,;LGSN,intron_variant,,ENST00000485906,;	G	ENST00000370657	Transcript	missense_variant	1475/1949	1441/1530	481/509	I/L	Att/Ctt		1		-1	LGSN	HGNC	HGNC:21016	protein_coding	YES	CCDS4964.1	ENSP00000359691	Q5TDP6		UPI000013DA35	NM_016571.2	deleterious(0.01)		4/4		hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF7,Gene3D:3.30.590.10,Pfam_domain:PF00120,Superfamily_domains:SSF55931																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	63280110	63280110	T	G	1	0	0	0	0	1	0	0	0	8669	1406	49	5		5	LGSN	6	63280110	Missense_Mutation	SNP	T	C3N-02089_TP	7784587	63280110	107525869	356	29153											
ADGRB3	0	.	GRCh38	chr6	69382911	69382911	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaactttggacagatttcgGgatataccaaatacaagcag	16	9	8	8	1	0	1	0	0	0	1	1	3	0	3	1	2	4	1	1	2	6	5			C3N-02089_TP	C3N-02089_NB	G	G																c.4356G>C	p.=	p.R1452R	ENST00000370598	31/32	120	108	12	118	118	0	strelka-mutect	ADGRB3,synonymous_variant,p.=,ENST00000370598,NM_001704.2;ADGRB3,synonymous_variant,p.=,ENST00000546190,;ADGRB3,synonymous_variant,p.=,ENST00000238918,;	C	ENST00000370598	Transcript	synonymous_variant	5177/6010	4356/4569	1452/1522	R	cgG/cgC	COSM3629266	1		1	ADGRB3	HGNC	HGNC:945	protein_coding	YES	CCDS4968.1	ENSP00000359630	O60242		UPI00001AE6A9	NM_001704.2			31/32													1						LOW	1	SNV	1		1	1										PASS		rs1478638766	.												C	2	2	90	69382911	69382911	G	C	1	0	0	0	0	0	0	0	1	357	1219	43	4		4	ADGRB3	6	69382911	Silent	SNP	G	C3N-02089_TP	6102801	69382911	101423068	357	29154											
B3GAT2	0	.	GRCh38	chr6	70956046	70956046	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccggcccgcgccaggaaGcggctcaccagctcgctgcg	6	3	14	18	6	1	0	1	0	0	0	2	1	1	1	4	3	4	3	4	3	1	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.384C>T	p.=	p.R128R	ENST00000230053	1/4	124	95	29	110	110	0	strelka-varscan-mutect	B3GAT2,synonymous_variant,p.=,ENST00000230053,NM_080742.2;B3GAT2,intron_variant,,ENST00000615536,;	A	ENST00000230053	Transcript	synonymous_variant	993/6565	384/972	128/323	R	cgC/cgT		1		-1	B3GAT2	HGNC	HGNC:922	protein_coding	YES	CCDS4974.1	ENSP00000230053	Q9NPZ5		UPI000012670C	NM_080742.2			1/4		hmmpanther:PTHR10896,hmmpanther:PTHR10896:SF8,Gene3D:3.90.550.10,Pfam_domain:PF03360,Superfamily_domains:SSF53448																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	70956046	70956046	G	A	1	0	0	0	0	0	0	0	1	1410	958	34	3		3	B3GAT2	6	70956046	Silent	SNP	G	C3N-02089_TP	1573135	70956046	99849933	358	29155											
RIMS1	0	.	GRCh38	chr6	72179846	72179846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcaaaggggctgagccctCgcagcaagccttggggcctg	8	5	16	12	1	0	1	0	1	0	0	1	2	0	1	3	4	4	4	3	4	2	1	rs116476753		C3N-02089_TP	C3N-02089_NB	C	C																c.743C>T	p.Ser248Leu	p.S248L	ENST00000521978	5/34	57	51	6	60	60	0	strelka-varscan-mutect	RIMS1,missense_variant,p.Ser248Leu,ENST00000264839,;RIMS1,missense_variant,p.Ser248Leu,ENST00000521978,NM_014989.5;RIMS1,missense_variant,p.Ser248Leu,ENST00000491071,;RIMS1,missense_variant,p.Ser248Leu,ENST00000520567,;RIMS1,missense_variant,p.Ser248Leu,ENST00000517960,;RIMS1,missense_variant,p.Ser248Leu,ENST00000518273,;RIMS1,missense_variant,p.Ser248Leu,ENST00000522291,;RIMS1,upstream_gene_variant,,ENST00000517433,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;	T	ENST00000521978	Transcript	missense_variant	743/5079	743/5079	248/1692	S/L	tCg/tTg	rs116476753	1		1	RIMS1	HGNC	HGNC:17282	protein_coding	YES	CCDS47449.1	ENSP00000428417	Q86UR5		UPI00001908FB	NM_014989.5	tolerated(0.13)		5/34		hmmpanther:PTHR12157:SF19,hmmpanther:PTHR12157																	MODERATE	1	SNV	1			1										PASS		rs116476753	.												T	3	4	90	72179846	72179846	C	T	1	0	0	0	0	1	0	0	0	13542	893	31	1		1	RIMS1	6	72179846	Missense_Mutation	SNP	C	C3N-02089_TP	1223800	72179846	98626133	359	29156											
CD109	0	.	GRCh38	chr6	73782692	73782692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tattcatgacttttctttggGtagcagtccacatgtccgaa	9	15	8	9	1	2	1	1	1	1	0	4	2	4	1	2	1	1	2	2	1	3	6	rs750387262		C3N-02089_TP	C3N-02089_NB	G	G																c.2042G>T	p.Gly681Val	p.G681V	ENST00000287097	18/33	136	90	46	189	189	0	strelka-varscan-mutect	CD109,missense_variant,p.Gly681Val,ENST00000437994,NM_001159587.2;CD109,missense_variant,p.Gly604Val,ENST00000422508,NM_001159588.2;CD109,missense_variant,p.Gly681Val,ENST00000287097,NM_133493.4;	T	ENST00000287097	Transcript	missense_variant	2154/9130	2042/4338	681/1445	G/V	gGt/gTt	rs750387262	1		1	CD109	HGNC	HGNC:21685	protein_coding	YES	CCDS4982.1	ENSP00000287097	Q6YHK3		UPI000013DE92	NM_133493.4	tolerated(0.34)		18/33		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF80																	MODERATE	1	SNV	1			1										PASS		rs750387262	.												T	3	4	90	73782692	73782692	G	T	1	0	0	0	0	1	0	0	0	2666	1261	44	2		2	CD109	6	73782692	Missense_Mutation	SNP	G	C3N-02089_TP	1602846	73782692	97023287	360	29157											
IMPG1	0	.	GRCh38	chr6	76022180	76022180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgaggagggtgtcatcaGgagtgagagggaaaggccca	12	6	17	6	0	2	2	2	2	0	1	2	6	2	5	1	5	0	0	1	5	1	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.602C>G	p.Pro201Arg	p.P201R	ENST00000369950	6/17	244	175	69	285	285	0	strelka-varscan-mutect	IMPG1,missense_variant,p.Pro201Arg,ENST00000369950,NM_001563.3;IMPG1,missense_variant,p.Pro123Arg,ENST00000611179,NM_001282368.1;IMPG1,downstream_gene_variant,,ENST00000369963,;	C	ENST00000369950	Transcript	missense_variant	792/3558	602/2394	201/797	P/R	cCt/cGt		1		-1	IMPG1	HGNC	HGNC:6055	protein_coding	YES	CCDS4985.1	ENSP00000358966	Q17R60		UPI0000073F12	NM_001563.3	deleterious(0.03)		6/17		hmmpanther:PTHR12199																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	76022180	76022180	G	C	1	0	0	0	0	1	0	0	0	7630	1000	35	4		4	IMPG1	6	76022180	Missense_Mutation	SNP	G	C3N-02089_TP	2239488	76022180	94783799	361	29158											
IMPG1	0	.	GRCh38	chr6	76034789	76034789	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catactgcttcctgacacacTgtaatacagagtcattaatg	13	12	6	10	0	1	2	1	1	0	1	2	2	2	2	1	0	3	2	1	0	4	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.302-2A>T		p.X101_splice	ENST00000369950		51	31	20	62	62	0	strelka-varscan-mutect	IMPG1,splice_acceptor_variant,,ENST00000369950,NM_001563.3;IMPG1,splice_acceptor_variant,,ENST00000611179,NM_001282368.1;IMPG1,splice_acceptor_variant,,ENST00000369963,;	A	ENST00000369950	Transcript	splice_acceptor_variant	-/3558	302/2394	101/797				1		-1	IMPG1	HGNC	HGNC:6055	protein_coding	YES	CCDS4985.1	ENSP00000358966	Q17R60		UPI0000073F12	NM_001563.3				2/16																		HIGH	1	SNV	1			1										PASS		rs1468714735	.												A	5	1	90	76034789	76034789	T	A	1	0	0	0	0	0	0	1	0	7630	1594	55	4		4	IMPG1	6	76034789	Splice_Site	SNP	T	C3N-02089_TP	12609	76034789	94771190	362	29159											
PRDM13	0	.	GRCh38	chr6	99609220	99609220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgcgagacgtccagccaGgggaggagctgacagtgtgg	9	6	17	9	2	0	2	0	1	0	1	1	5	1	4	2	4	3	1	2	4	0	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.310G>T	p.Gly104Trp	p.G104W	ENST00000369215	3/4	221	150	71	201	201	0	strelka-varscan-mutect	PRDM13,missense_variant,p.Gly104Trp,ENST00000369215,NM_021620.3;PRDM13,missense_variant,p.Arg113Met,ENST00000369214,;	T	ENST00000369215	Transcript	missense_variant	615/2429	310/2124	104/707	G/W	Ggg/Tgg		1		1	PRDM13	HGNC	HGNC:13998	protein_coding	YES	CCDS43487.1	ENSP00000358217	Q9H4Q3		UPI000047099D	NM_021620.3	deleterious(0)		3/4		PROSITE_profiles:PS50280,Gene3D:2.170.270.10,Superfamily_domains:SSF82199																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	90	99609220	99609220	G	T	1	0	0	0	0	1	0	0	0	12585	1000	35	2		2	PRDM13	6	99609220	Missense_Mutation	SNP	G	C3N-02089_TP	23574431	99609220	71196759	363	29160											
MCHR2	0	.	GRCh38	chr6	99956006	99956006	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgttgccaaccagccCtgttgaacagataatcccaa	13	8	9	11	0	0	2	0	1	0	1	1	4	1	3	4	1	4	2	4	1	4	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.142G>C	p.Gly48Arg	p.G48R	ENST00000281806	2/6	88	62	26	80	80	0	strelka-varscan-mutect	MCHR2,missense_variant,p.Gly48Arg,ENST00000281806,NM_001040179.1;MCHR2,missense_variant,p.Gly48Arg,ENST00000369212,NM_032503.2;	G	ENST00000281806	Transcript	missense_variant	457/2368	142/1023	48/340	G/R	Ggg/Cgg		1		-1	MCHR2	HGNC	HGNC:20867	protein_coding	YES	CCDS5044.1	ENSP00000281806	Q969V1		UPI000003730F	NM_001040179.1	deleterious(0)		2/6		Transmembrane_helices:TMhelix,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF7,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	90	99956006	99956006	C	G	1	0	0	0	0	1	0	0	0	9314	681	24	4		4	MCHR2	6	99956006	Missense_Mutation	SNP	C	C3N-02089_TP	346786	99956006	70849973	364	29161											
GRIK2	0	.	GRCh38	chr6	101682564	101682564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccttaggcattagctatGggaatgatgacagaatacta	13	13	9	6	0	0	3	0	2	0	1	1	4	1	4	1	2	2	2	1	2	7	6	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.735G>T	p.Met245Ile	p.M245I	ENST00000421544	5/16	95	65	30	143	143	0	strelka-varscan-mutect	GRIK2,missense_variant,p.Met245Ile,ENST00000369138,NM_001166247.1;GRIK2,missense_variant,p.Met245Ile,ENST00000413795,NM_175768.3;GRIK2,missense_variant,p.Met245Ile,ENST00000421544,NM_021956.4;GRIK2,missense_variant,p.Met207Ile,ENST00000318991,;GRIK2,missense_variant,p.Met207Ile,ENST00000369137,;GRIK2,missense_variant,p.Met207Ile,ENST00000369134,;GRIK2,missense_variant,p.Met245Ile,ENST00000358361,;GRIK2,missense_variant,p.Met16Ile,ENST00000455610,;	T	ENST00000421544	Transcript	missense_variant	1225/4789	735/2727	245/908	M/I	atG/atT		1		1	GRIK2	HGNC	HGNC:4580	protein_coding	YES	CCDS5048.1	ENSP00000397026	Q13002		UPI000012B617	NM_021956.4	tolerated(0.38)		5/16		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,Superfamily_domains:SSF53822																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	101682564	101682564	G	T	1	0	0	0	0	1	0	0	0	6656	1348	47	2		2	GRIK2	6	101682564	Missense_Mutation	SNP	G	C3N-02089_TP	1726558	101682564	69123415	365	29162											
GRIK2	0	.	GRCh38	chr6	102055566	102055566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatacaaatccaaaaaaaacGctcaattggaaaaggtaaat	22	8	5	6	1	1	0	1	0	0	0	2	1	2	1	1	2	2	2	1	2	12	4	rs778896944		C3N-02089_TP	C3N-02089_NB	G	G																c.2548G>T	p.Ala850Ser	p.A850S	ENST00000421544	15/16	94	64	30	107	106	1	strelka-varscan-mutect	GRIK2,missense_variant,p.Ala850Ser,ENST00000369138,NM_001166247.1;GRIK2,missense_variant,p.Ala850Ser,ENST00000413795,NM_175768.3;GRIK2,missense_variant,p.Ala850Ser,ENST00000421544,NM_021956.4;GRIK2,missense_variant,p.Ala812Ser,ENST00000318991,;GRIK2,missense_variant,p.Ala812Ser,ENST00000369137,;GRIK2,missense_variant,p.Ala812Ser,ENST00000369134,;	T	ENST00000421544	Transcript	missense_variant	3038/4789	2548/2727	850/908	A/S	Gct/Tct	rs778896944,COSM393020,COSM393021	1		1	GRIK2	HGNC	HGNC:4580	protein_coding	YES	CCDS5048.1	ENSP00000397026	Q13002		UPI000012B617	NM_021956.4	tolerated(0.2)		15/16		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs778896944	.												T	3	4	90	102055566	102055566	G	T	1	0	0	0	0	1	0	0	0	6656	1087	38	1		1	GRIK2	6	102055566	Missense_Mutation	SNP	G	C3N-02089_TP	373002	102055566	68750413	366	29163											
SESN1	0	.	GRCh38	chr6	109009420	109009420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagccccgagaccgccaaaGgggccgtgtacgcctcgttc	7	5	13	16	5	0	1	0	0	0	1	2	2	0	1	6	2	2	3	6	2	2	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.41C>T	p.Pro14Leu	p.P14L	ENST00000356644	1/10	122	80	42	76	76	0	strelka-varscan-mutect	SESN1,missense_variant,p.Pro14Leu,ENST00000356644,NM_001199933.1;SESN1,intron_variant,,ENST00000436639,NM_014454.2;SESN1,upstream_gene_variant,,ENST00000302071,NM_001199934.1;	A	ENST00000356644	Transcript	missense_variant	136/2676	41/1479	14/492	P/L	cCt/cTt		1		-1	SESN1	HGNC	HGNC:21595	protein_coding		CCDS56445.1	ENSP00000349061	Q9Y6P5		UPI000013588F	NM_001199933.1	tolerated_low_confidence(0.06)		1/10		PROSITE_profiles:PS51257																	MODERATE		SNV	1			1										PASS		.	.												A	3	1	90	109009420	109009420	G	A	1	0	0	0	0	1	0	0	0	14401	1000	35	3		3	SESN1	6	109009420	Missense_Mutation	SNP	G	C3N-02089_TP	6953854	109009420	61796559	367	29164											
LAMA4	0	.	GRCh38	chr6	112165217	112165217	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttgtcagagagtccgcAgatgtgctcagagacatgtt	9	11	14	7	1	2	3	2	0	0	3	3	5	3	3	1	1	1	4	1	1	0	2	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1611T>A	p.=	p.S537S	ENST00000230538	13/39	378	323	55	391	391	0	strelka-varscan-mutect	LAMA4,synonymous_variant,p.=,ENST00000230538,NM_001105206.2;LAMA4,synonymous_variant,p.=,ENST00000522006,NM_001105207.2,NM_002290.4;LAMA4,synonymous_variant,p.=,ENST00000389463,;LAMA4,synonymous_variant,p.=,ENST00000424408,;RP1-142L7.5,intron_variant,,ENST00000626024,;RP1-142L7.5,intron_variant,,ENST00000585373,;RP1-142L7.5,intron_variant,,ENST00000629996,;RP1-142L7.5,downstream_gene_variant,,ENST00000625600,;LAMA4,upstream_gene_variant,,ENST00000523765,;	T	ENST00000230538	Transcript	synonymous_variant	2009/6547	1611/5472	537/1823	S	tcT/tcA		1		-1	LAMA4	HGNC	HGNC:6484	protein_coding	YES	CCDS43491.1	ENSP00000230538		A0A0A0MQS9	UPI000153D541	NM_001105206.2			13/39		hmmpanther:PTHR10574:SF277,hmmpanther:PTHR10574,Pfam_domain:PF06008																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	112165217	112165217	A	T	1	0	0	0	0	0	0	0	1	8512	175	7	4		4	LAMA4	6	112165217	Silent	SNP	A	C3N-02089_TP	3155797	112165217	58640762	368	29165											
RFX6	0	.	GRCh38	chr6	116928806	116928806	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtctcacaggctcggaTcaatggtgaatcagcacgtt	11	9	11	10	2	3	2	3	1	1	1	5	3	3	3	0	3	1	3	0	3	2	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.2446T>C	p.Ser816Pro	p.S816P	ENST00000332958	18/19	317	196	121	291	291	0	strelka-varscan-mutect	RFX6,missense_variant,p.Ser816Pro,ENST00000332958,NM_173560.3;	C	ENST00000332958	Transcript	missense_variant	2462/3460	2446/2787	816/928	S/P	Tca/Cca		1		1	RFX6	HGNC	HGNC:21478	protein_coding	YES	CCDS5113.1	ENSP00000332208	Q8HWS3		UPI00001609BE	NM_173560.3	tolerated_low_confidence(0.26)		18/19		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	116928806	116928806	T	C	1	0	0	0	0	1	0	0	0	13441	1435	50	5		5	RFX6	6	116928806	Missense_Mutation	SNP	T	C3N-02089_TP	4763589	116928806	53877173	369	29166											
SLC35F1	0	.	GRCh38	chr6	118267115	118267116	+	Frame_Shift_Ins	INS	-	-	T																															cctgggaatgggctgcatggINStgggagcagatgtgcttgtg																								novel		C3N-02089_TP	C3N-02089_NB	-	-																c.599dupT	p.Ala202SerfsTer15	p.A202Sfs*15	ENST00000360388	4/8	130	84	46	142	142	0	sindel-varindel	SLC35F1,frameshift_variant,p.Ala202SerfsTer15,ENST00000360388,NM_001029858.3;SLC35F1,frameshift_variant,p.Ala143SerfsTer15,ENST00000621341,;	T	ENST00000360388	Transcript	frameshift_variant	799-800/4852	598-599/1227	200/408	V/VX	gtg/gTtg		1		1	SLC35F1	HGNC	HGNC:21483	protein_coding	YES	CCDS34524.1	ENSP00000353557	Q5T1Q4		UPI00001609C1	NM_001029858.3			4/8		Superfamily_domains:0043518,Pfam_domain:PF06027,hmmpanther:PTHR14233,hmmpanther:PTHR14233:SF10,Transmembrane_helices:TMhelix																	HIGH	1	insertion	1	1		1										PASS		.	.												T	7	5	90	118267115	118267115	-	T	1	0	1	1	0	0	0	0	0	14859	1261	44	0		0	SLC35F1	6	118267115	Frame_Shift_Ins	INS	-	C3N-02089_TP	1338309	118267115	52538864	370	29167	608	3									
SLC35F1	0	.	GRCh38	chr6	118267117	118267117	+	Silent	SNP	G	G	T																															ctgggaatgggctgcatggtGggagcagatgtgcttgtggg																								novel		C3N-02089_TP	C3N-02089_NB	G	G																c.600G>T	p.=	p.V200V	ENST00000360388	4/8	149	97	52	150	150	0	strelka-mutect	SLC35F1,synonymous_variant,p.=,ENST00000360388,NM_001029858.3;SLC35F1,synonymous_variant,p.=,ENST00000621341,;	T	ENST00000360388	Transcript	synonymous_variant	801/4852	600/1227	200/408	V	gtG/gtT		1		1	SLC35F1	HGNC	HGNC:21483	protein_coding	YES	CCDS34524.1	ENSP00000353557	Q5T1Q4		UPI00001609C1	NM_001029858.3			4/8		Superfamily_domains:0043518,Pfam_domain:PF06027,hmmpanther:PTHR14233,hmmpanther:PTHR14233:SF10,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	118267117	118267117	G	T	1	0	0	0	0	0	0	0	1	14859	1335	47	2		2	SLC35F1	6	118267117	Silent	SNP	G	C3N-02089_TP	2	118267117	52538862	371	29168	608	3									
SLC35F1	0	.	GRCh38	chr6	118267118	118267118	+	Missense_Mutation	SNP	G	G	C																															tgggaatgggctgcatggtgGgagcagatgtgcttgtggga																								novel		C3N-02089_TP	C3N-02089_NB	G	G																c.601G>C	p.Gly201Arg	p.G201R	ENST00000360388	4/8	151	99	52	146	146	0	strelka-mutect	SLC35F1,missense_variant,p.Gly201Arg,ENST00000360388,NM_001029858.3;SLC35F1,missense_variant,p.Gly142Arg,ENST00000621341,;	C	ENST00000360388	Transcript	missense_variant	802/4852	601/1227	201/408	G/R	Gga/Cga		1		1	SLC35F1	HGNC	HGNC:21483	protein_coding	YES	CCDS34524.1	ENSP00000353557	Q5T1Q4		UPI00001609C1	NM_001029858.3	deleterious(0.01)		4/8		Superfamily_domains:0043518,Pfam_domain:PF06027,hmmpanther:PTHR14233,hmmpanther:PTHR14233:SF10,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	118267118	118267118	G	C	1	0	0	0	0	1	0	0	0	14859	1233	43	4		4	SLC35F1	6	118267118	Missense_Mutation	SNP	G	C3N-02089_TP	1	118267118	52538861	372	29169	608	3									
TRDN	0	.	GRCh38	chr6	123218623	123218623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actgtccttgttgcttctgtCctggagaatttgcttgacca	6	16	9	10	0	1	2	0	1	1	1	3	3	3	2	3	1	2	3	3	1	1	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2168G>A	p.Gly723Glu	p.G723E	ENST00000334268	41/41	124	74	50	136	136	0	strelka-varscan-mutect	TRDN,missense_variant,p.Gly723Glu,ENST00000334268,NM_006073.3;	T	ENST00000334268	Transcript	missense_variant	2486/4770	2168/2190	723/729	G/E	gGa/gAa		1		-1	TRDN	HGNC	HGNC:12261	protein_coding	YES	CCDS55053.1	ENSP00000333984	Q13061		UPI0000D820CC	NM_006073.3	deleterious_low_confidence(0.03)		41/41		hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	123218623	123218623	C	T	1	0	0	0	0	1	0	0	0	16957	855	30	3		3	TRDN	6	123218623	Missense_Mutation	SNP	C	C3N-02089_TP	4951505	123218623	47587356	373	29170											
TRDN	0	.	GRCh38	chr6	123548612	123548612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatcttggcaatagagcttGctaaaagtaattaaaaaaaa	20	10	6	5	0	1	1	0	0	1	1	1	1	1	1	0	1	2	4	0	1	10	6	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.233C>A	p.Ala78Glu	p.A78E	ENST00000334268	3/41	47	32	15	60	60	0	strelka-varscan-mutect	TRDN,missense_variant,p.Ala78Glu,ENST00000334268,NM_006073.3;TRDN,missense_variant,p.Ala78Glu,ENST00000628709,NM_001256020.1;TRDN,missense_variant,p.Ala78Glu,ENST00000542443,NM_001256022.1;TRDN,missense_variant,p.Ala78Glu,ENST00000546248,NM_001256021.1;	T	ENST00000334268	Transcript	missense_variant,splice_region_variant	551/4770	233/2190	78/729	A/E	gCa/gAa		1		-1	TRDN	HGNC	HGNC:12261	protein_coding	YES	CCDS55053.1	ENSP00000333984	Q13061		UPI0000D820CC	NM_006073.3	deleterious_low_confidence(0)		3/41		hmmpanther:PTHR14106,hmmpanther:PTHR14106:SF0,Pfam_domain:PF05279																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	123548612	123548612	G	T	1	0	0	0	0	1	0	0	0	16957	1333	46	2		2	TRDN	6	123548612	Missense_Mutation	SNP	G	C3N-02089_TP	329989	123548612	47257367	374	29171											
L3MBTL3	0	.	GRCh38	chr6	130133466	130133466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaccaggtgcccgggaagaaCccaccgtccagcaggcacag	11	2	13	15	2	0	1	0	0	0	1	1	3	1	2	5	3	3	2	5	3	2	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1981C>A	p.Pro661Thr	p.P661T	ENST00000529410	23/25	100	65	35	110	110	0	strelka-varscan-mutect	L3MBTL3,missense_variant,p.Pro661Thr,ENST00000529410,;L3MBTL3,missense_variant,p.Pro661Thr,ENST00000368136,;L3MBTL3,missense_variant,p.Pro661Thr,ENST00000361794,NM_032438.2;L3MBTL3,missense_variant,p.Pro636Thr,ENST00000368139,;L3MBTL3,missense_variant,p.Pro636Thr,ENST00000526019,;L3MBTL3,missense_variant,p.Pro636Thr,ENST00000533560,NM_001007102.2;RP11-73O6.3,non_coding_transcript_exon_variant,,ENST00000415964,;RP11-73O6.3,downstream_gene_variant,,ENST00000614735,;RP11-73O6.3,downstream_gene_variant,,ENST00000609978,;RP11-73O6.3,downstream_gene_variant,,ENST00000622734,;RP11-73O6.3,downstream_gene_variant,,ENST00000591297,;RP11-73O6.3,downstream_gene_variant,,ENST00000617353,;	A	ENST00000529410	Transcript	missense_variant	2460/4518	1981/2343	661/780	P/T	Ccc/Acc		1		1	L3MBTL3	HGNC	HGNC:23035	protein_coding	YES	CCDS34537.1	ENSP00000431962	Q96JM7		UPI00001C1E3E		tolerated(0.39)		23/25		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF72																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	130133466	130133466	C	A	1	0	0	0	0	1	0	0	0	8495	507	18	2		2	L3MBTL3	6	130133466	Missense_Mutation	SNP	C	C3N-02089_TP	6584854	130133466	40672513	375	29172											
EPB41L2	0	.	GRCh38	chr6	130885167	130885167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgccgtccccatcttGtaccacggcaatgctgacaa	8	9	7	17	2	1	1	0	1	1	0	3	1	3	1	6	1	3	3	6	1	3	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1762C>A	p.Gln588Lys	p.Q588K	ENST00000337057	12/20	263	224	39	234	234	0	strelka-varscan-mutect	EPB41L2,missense_variant,p.Gln588Lys,ENST00000337057,NM_001431.3;EPB41L2,missense_variant,p.Gln588Lys,ENST00000368128,;EPB41L2,missense_variant,p.Gln588Lys,ENST00000628542,;EPB41L2,missense_variant,p.Gln588Lys,ENST00000527411,;EPB41L2,missense_variant,p.Gln588Lys,ENST00000530481,NM_001199388.2;EPB41L2,missense_variant,p.Gln588Lys,ENST00000445890,;EPB41L2,missense_variant,p.Gln588Lys,ENST00000528282,NM_001252660.1;EPB41L2,missense_variant,p.Gln588Lys,ENST00000392427,NM_001135554.1,NM_001135555.3;EPB41L2,missense_variant,p.Gln588Lys,ENST00000529208,;EPB41L2,missense_variant,p.Gln588Lys,ENST00000525271,;EPB41L2,missense_variant,p.Gln588Lys,ENST00000527659,;EPB41L2,missense_variant,p.Gln588Lys,ENST00000525193,;EPB41L2,missense_variant,p.Gln79Lys,ENST00000456097,;EPB41L2,upstream_gene_variant,,ENST00000530757,;EPB41L2,upstream_gene_variant,,ENST00000524581,;EPB41L2,upstream_gene_variant,,ENST00000531410,;EPB41L2,upstream_gene_variant,,ENST00000525198,;EPB41L2,upstream_gene_variant,,ENST00000527423,;EPB41L2,upstream_gene_variant,,ENST00000527017,;	T	ENST00000337057	Transcript	missense_variant	1944/4457	1762/3018	588/1005	Q/K	Caa/Aaa		1		-1	EPB41L2	HGNC	HGNC:3379	protein_coding	YES	CCDS5141.1	ENSP00000338481	O43491		UPI0000129AF9	NM_001431.3	tolerated(0.55)		12/20		PIRSF_domain:PIRSF002304,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	130885167	130885167	G	T	1	0	0	0	0	1	0	0	0	5000	1386	48	2		2	EPB41L2	6	130885167	Missense_Mutation	SNP	G	C3N-02089_TP	751701	130885167	39920812	376	29173											
TAAR9	0	.	GRCh38	chr6	132539138	132539138	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgcagtgattgatgcttaTatgaattttataactcctcc	11	16	7	7	0	0	3	0	3	0	0	2	4	2	3	2	0	3	2	2	0	5	6	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.849T>C	p.=	p.Y283Y	ENST00000434551	1/1	59	36	23	83	83	0	strelka-varscan-mutect	TAAR9,synonymous_variant,p.=,ENST00000434551,NM_175057.3;	C	ENST00000434551	Transcript	synonymous_variant	849/1047	849/1047	283/348	Y	taT/taC		1		1	TAAR9	HGNC	HGNC:20977	protein_coding	YES	CCDS75520.1	ENSP00000424607	Q96RI9		UPI000000D880	NM_175057.3			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF79,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01830																	LOW	1	SNV				1										PASS		.	.												C	2	2	90	132539138	132539138	T	C	1	0	0	0	0	0	0	0	1	15890	1413	49	5		5	TAAR9	6	132539138	Silent	SNP	T	C3N-02089_TP	1653971	132539138	38266841	377	29174											
TAAR6	0	.	GRCh38	chr6	132570538	132570538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccaattttctcgttgccTctctggcctgcgctgatttc	4	15	8	14	3	2	1	0	1	2	0	5	2	2	1	3	1	2	2	3	1	1	4			C3N-02089_TP	C3N-02089_NB	T	T																c.217T>C	p.Ser73Pro	p.S73P	ENST00000275198	1/1	240	213	27	237	237	0	strelka-varscan-mutect	TAAR6,missense_variant,p.Ser73Pro,ENST00000275198,NM_175067.1;	C	ENST00000275198	Transcript	missense_variant	217/1038	217/1038	73/345	S/P	Tct/Cct	COSM594293	1		1	TAAR6	HGNC	HGNC:20978	protein_coding	YES	CCDS5155.1	ENSP00000275198	Q96RI8		UPI000000D881	NM_175067.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF271,hmmpanther:PTHR24249,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE	1	SNV			1	1										PASS		.	.												C	3	2	90	132570538	132570538	T	C	1	0	0	0	0	1	0	0	0	15888	1551	54	5		5	TAAR6	6	132570538	Missense_Mutation	SNP	T	C3N-02089_TP	31400	132570538	38235441	378	29175											
NMBR	0	.	GRCh38	chr6	142088397	142088397	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcagcagcaagtcccCggccgccaggttagagatga	11	4	14	12	2	0	2	0	1	0	1	1	4	1	2	4	2	4	5	4	2	2	1			C3N-02089_TP	C3N-02089_NB	C	C																c.262G>C	p.Gly88Arg	p.G88R	ENST00000258042	1/3	320	299	21	306	303	3	strelka-varscan-mutect	NMBR,missense_variant,p.Gly88Arg,ENST00000258042,NM_002511.2;RP11-137J7.2,intron_variant,,ENST00000454401,;	G	ENST00000258042	Transcript	missense_variant	403/1354	262/1173	88/390	G/R	Ggg/Cgg	COSM1440864	1		-1	NMBR	HGNC	HGNC:7843	protein_coding	YES	CCDS5196.1	ENSP00000258042	P28336		UPI000013CFAB	NM_002511.2	deleterious(0)		1/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF53,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	90	142088397	142088397	C	G	1	0	0	0	0	1	0	0	0	10525	652	23	4		4	NMBR	6	142088397	Missense_Mutation	SNP	C	C3N-02089_TP	9517859	142088397	28717582	379	29176											
ADGRG6	0	.	GRCh38	chr6	142419922	142419922	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcattgtggtaatggtgcAgatctgtgggaggaatggca	9	12	16	4	0	2	1	1	0	1	1	2	3	2	3	0	5	1	4	0	5	2	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.3137A>T	p.Gln1046Leu	p.Q1046L	ENST00000367609	22/25	300	273	27	254	254	0	strelka-mutect	ADGRG6,missense_variant,p.Gln1046Leu,ENST00000230173,NM_020455.5;ADGRG6,missense_variant,p.Gln1046Leu,ENST00000367609,NM_198569.2;ADGRG6,missense_variant,p.Gln1018Leu,ENST00000367608,NM_001032395.2;ADGRG6,missense_variant,p.Gln1018Leu,ENST00000296932,NM_001032394.2;ADGRG6,non_coding_transcript_exon_variant,,ENST00000472054,;	T	ENST00000367609	Transcript	missense_variant	3538/6887	3137/3753	1046/1250	Q/L	cAg/cTg		1		1	ADGRG6	HGNC	HGNC:13841	protein_coding	YES	CCDS47489.1	ENSP00000356581	Q86SQ4		UPI000022CCE4	NM_198569.2	deleterious(0)		22/25		Gene3D:1.20.1070.10,Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF290,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	142419922	142419922	A	T	1	0	0	0	0	1	0	0	0	373	188	7	4		4	ADGRG6	6	142419922	Missense_Mutation	SNP	A	C3N-02089_TP	331525	142419922	28386057	380	29177											
AKAP12	0	.	GRCh38	chr6	151349024	151349024	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaggggagggagcagcaggGgctggcgaccacaaggaccc	11	1	19	10	1	0	0	0	0	0	0	0	5	0	3	2	7	2	3	2	7	2	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.633G>T	p.=	p.G211G	ENST00000402676	4/5	139	100	39	157	157	0	strelka-varscan-mutect	AKAP12,synonymous_variant,p.=,ENST00000402676,NM_005100.3;AKAP12,synonymous_variant,p.=,ENST00000253332,;AKAP12,synonymous_variant,p.=,ENST00000354675,NM_144497.2;AKAP12,synonymous_variant,p.=,ENST00000359755,;AKAP12,non_coding_transcript_exon_variant,,ENST00000490177,;	T	ENST00000402676	Transcript	synonymous_variant	873/8432	633/5349	211/1782	G	ggG/ggT		1		1	AKAP12	HGNC	HGNC:370	protein_coding	YES	CCDS5229.1	ENSP00000384537	Q02952		UPI000013CDC7	NM_005100.3			4/5		Low_complexity_(Seg):seg,hmmpanther:PTHR23209																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	90	151349024	151349024	G	T	1	0	0	0	0	0	0	0	1	531	1219	43	2		2	AKAP12	6	151349024	Silent	SNP	G	C3N-02089_TP	8929102	151349024	19456955	381	29178											
SYNE1	0	.	GRCh38	chr6	152148171	152148171	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcatagtcgtgatcccactCcagggggatggagtccacac	9	8	12	12	1	1	1	1	1	0	0	5	3	4	3	3	3	0	0	3	3	1	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.24850G>T	p.Glu8284Ter	p.E8284*	ENST00000367255	137/146	167	117	50	142	142	0	strelka-varscan-mutect	SYNE1,stop_gained,p.Glu8284Ter,ENST00000367255,NM_182961.3;SYNE1,stop_gained,p.Glu8213Ter,ENST00000423061,NM_033071.3;SYNE1,stop_gained,p.Glu7879Ter,ENST00000341594,;SYNE1,stop_gained,p.Glu1206Ter,ENST00000367251,;SYNE1,stop_gained,p.Glu930Ter,ENST00000367257,;SYNE1,stop_gained,p.Glu439Ter,ENST00000539504,;SYNE1,stop_gained,p.Glu439Ter,ENST00000354674,;SYNE1,non_coding_transcript_exon_variant,,ENST00000347037,;SYNE1,non_coding_transcript_exon_variant,,ENST00000460912,;SYNE1,non_coding_transcript_exon_variant,,ENST00000536990,;SYNE1,downstream_gene_variant,,ENST00000476519,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;SYNE1,non_coding_transcript_exon_variant,,ENST00000472563,;SYNE1,upstream_gene_variant,,ENST00000478916,;SYNE1,downstream_gene_variant,,ENST00000490866,;	A	ENST00000367255	Transcript	stop_gained	25452/27748	24850/26394	8284/8797	E/*	Gag/Tag		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			137/146		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	90	152148171	152148171	C	A	1	0	0	0	0	0	1	0	0	15837	864	30	2		2	SYNE1	6	152148171	Nonsense_Mutation	SNP	C	C3N-02089_TP	799147	152148171	18657808	382	29179											
SYNE1	0	.	GRCh38	chr6	152284100	152284100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcctcacaagactcggataCcagctcctctgcgagagagg	10	6	12	13	2	2	2	1	0	1	2	4	5	3	3	3	3	3	1	3	3	2	1	rs757079165		C3N-02089_TP	C3N-02089_NB	C	C																c.18085G>C	p.Val6029Leu	p.V6029L	ENST00000367255	96/146	306	276	30	333	333	0	strelka-varscan-mutect	SYNE1,missense_variant,p.Val6029Leu,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Val5958Leu,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Val5624Leu,ENST00000341594,;SYNE1,missense_variant,p.Val204Leu,ENST00000540663,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;SYNE1,non_coding_transcript_exon_variant,,ENST00000489156,;SYNE1,upstream_gene_variant,,ENST00000488376,;	G	ENST00000367255	Transcript	missense_variant	18687/27748	18085/26394	6029/8797	V/L	Gta/Cta	rs757079165	1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			96/146		SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		rs757079165	.												G	3	3	90	152284100	152284100	C	G	1	0	0	0	0	1	0	0	0	15837	507	18	4		4	SYNE1	6	152284100	Missense_Mutation	SNP	C	C3N-02089_TP	135929	152284100	18521879	383	29180											
SYNE1	0	.	GRCh38	chr6	152347084	152347084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctgtgctgcagatcgctGagtagctgtcctttgtgccc	5	12	13	11	1	0	2	0	1	0	1	2	3	1	2	2	0	5	6	2	0	1	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.12053C>T	p.Ser4018Leu	p.S4018L	ENST00000367255	73/146	172	131	41	145	145	0	strelka-varscan-mutect	SYNE1,missense_variant,p.Ser4018Leu,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Ser3947Leu,ENST00000423061,NM_033071.3;SYNE1,intron_variant,,ENST00000341594,;SYNE1,non_coding_transcript_exon_variant,,ENST00000471834,;	A	ENST00000367255	Transcript	missense_variant	12655/27748	12053/26394	4018/8797	S/L	tCa/tTa		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			73/146		Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	152347084	152347084	G	A	1	0	0	0	0	1	0	0	0	15837	1294	45	3		3	SYNE1	6	152347084	Missense_Mutation	SNP	G	C3N-02089_TP	62984	152347084	18458895	384	29181											
SMOC2	0	.	GRCh38	chr6	168510042	168510042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatttcaacgtgccaagtGcaaagatccccagctagaga	14	8	9	10	1	1	3	1	1	0	2	2	4	2	3	3	0	4	2	3	0	5	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.212G>A	p.Cys71Tyr	p.C71Y	ENST00000354536	2/13	142	131	11	150	150	0	strelka-varscan-mutect	SMOC2,missense_variant,p.Cys71Tyr,ENST00000354536,NM_022138.2;SMOC2,missense_variant,p.Cys71Tyr,ENST00000356284,NM_001166412.1;	A	ENST00000354536	Transcript	missense_variant	432/3150	212/1374	71/457	C/Y	tGc/tAc		1		1	SMOC2	HGNC	HGNC:20323	protein_coding	YES	CCDS5307.1	ENSP00000346537	Q9H3U7		UPI0000072A56	NM_022138.2	deleterious(0)		2/13		PROSITE_profiles:PS51465,hmmpanther:PTHR12352,hmmpanther:PTHR12352:SF14,Gene3D:3.30.60.30,Pfam_domain:PF07648,SMART_domains:SM00280,Superfamily_domains:SSF100895																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	168510042	168510042	G	A	1	0	0	0	0	1	0	0	0	15123	1319	46	3		3	SMOC2	6	168510042	Missense_Mutation	SNP	G	C3N-02089_TP	16162958	168510042	2295937	385	29182											
THBS2	0	.	GRCh38	chr6	169241914	169241914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcggtggtgacatgcggacCcaggcgcagcgtctctgtgt	5	9	15	12	4	1	1	0	1	1	0	3	2	1	2	1	4	2	1	1	4	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.739G>T	p.Gly247Cys	p.G247C	ENST00000366787	6/23	109	68	41	98	98	0	strelka-varscan-mutect	THBS2,missense_variant,p.Gly247Cys,ENST00000366787,NM_003247.3;THBS2,missense_variant,p.Gly247Cys,ENST00000617924,;XXyac-YX65C7_A.2,downstream_gene_variant,,ENST00000444188,;THBS2,upstream_gene_variant,,ENST00000461848,;THBS2,downstream_gene_variant,,ENST00000472733,;	A	ENST00000366787	Transcript	missense_variant	989/5811	739/3519	247/1172	G/C	Ggt/Tgt		1		-1	THBS2	HGNC	HGNC:11786	protein_coding	YES	CCDS34574.1	ENSP00000355751	P35442		UPI0000231C7F	NM_003247.3	deleterious_low_confidence(0.01)		6/23		hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	169241914	169241914	C	A	1	0	0	0	0	1	0	0	0	16287	623	22	2		2	THBS2	6	169241914	Missense_Mutation	SNP	C	C3N-02089_TP	731872	169241914	1564065	386	29183											
EIF3B	0	.	GRCh38	chr7	2355343	2355343	+	Frame_Shift_Del	DEL	G	G	-																															agcggccgaggccgaaccccGggcgctggagaacggcgacg																								novel		C3N-02089_TP	C3N-02089_NB	G	G																c.424delG	p.Ala142ArgfsTer22	p.A142Rfs*22	ENST00000360876	1/19	116	94	22	66	66	0	sindel-pindel	EIF3B,frameshift_variant,p.Ala142ArgfsTer22,ENST00000360876,NM_001037283.1;EIF3B,frameshift_variant,p.Ala142ArgfsTer22,ENST00000397011,NM_003751.3;EIF3B,frameshift_variant,p.Ala103ArgfsTer22,ENST00000413917,;EIF3B,5_prime_UTR_variant,,ENST00000431643,;SNX8,upstream_gene_variant,,ENST00000435336,;SNX8,upstream_gene_variant,,ENST00000447136,;	-	ENST00000360876	Transcript	frameshift_variant	478/3055	422/2445	141/814	R/X	cGg/cg		1		1	EIF3B	HGNC	HGNC:3280	protein_coding	YES	CCDS5332.1	ENSP00000354125	P55884	A0A024R821	UPI000013F934	NM_001037283.1			1/19		Low_complexity_(Seg):seg,hmmpanther:PTHR14068:SF0,hmmpanther:PTHR14068,PIRSF_domain:PIRSF036424																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	90	2355343	2355343	G	-	1	0	1	0	1	0	0	0	0	4847	1116	39	0		0	EIF3B	7	2355343	Frame_Shift_Del	DEL	G	C3N-02089_TP		2355343	156990630	387	29184											
SDK1	0	.	GRCh38	chr7	3619221	3619221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgatgacagtgagctcaccaCctacagcagcgaatataagt	14	7	9	11	2	1	2	1	2	0	0	1	4	1	2	2	0	4	2	2	0	4	3	rs772186781		C3N-02089_TP	C3N-02089_NB	C	C																c.440C>T	p.Thr147Ile	p.T147I	ENST00000404826	2/45	96	86	10	106	106	0	strelka-varscan-mutect	SDK1,missense_variant,p.Thr147Ile,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Thr147Ile,ENST00000615806,;SDK1,missense_variant,p.Thr147Ile,ENST00000389531,;	T	ENST00000404826	Transcript	missense_variant	579/10397	440/6642	147/2213	T/I	aCc/aTc	rs772186781	1		1	SDK1	HGNC	HGNC:19307	protein_coding	YES	CCDS34590.1	ENSP00000385899	Q7Z5N4		UPI0000DBEEC4	NM_152744.3	tolerated(0.07)		2/45		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF36,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs772186781	.												T	3	4	90	3619221	3619221	C	T	1	0	0	0	0	1	0	0	0	14243	507	18	3		3	SDK1	7	3619221	Missense_Mutation	SNP	C	C3N-02089_TP	1263878	3619221	155726752	388	29185											
AP5Z1	0	.	GRCh38	chr7	4781724	4781724	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcagaacagccggcagctGagcctggtggcctccgttct	7	7	13	14	3	1	2	0	1	1	1	2	2	2	2	4	3	4	4	4	3	1	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.336G>T	p.=	p.L112L	ENST00000348624	3/17	25	17	8	23	23	0	strelka-varscan-mutect	AP5Z1,synonymous_variant,p.=,ENST00000348624,NM_014855.2;AP5Z1,non_coding_transcript_exon_variant,,ENST00000496303,;AP5Z1,intron_variant,,ENST00000477680,;AP5Z1,upstream_gene_variant,,ENST00000491375,;AP5Z1,upstream_gene_variant,,ENST00000477454,;	T	ENST00000348624	Transcript	synonymous_variant	430/2901	336/2424	112/807	L	ctG/ctT		1		1	AP5Z1	HGNC	HGNC:22197	protein_coding	YES	CCDS47528.1	ENSP00000297562	O43299		UPI00003E5903	NM_014855.2			3/17		hmmpanther:PTHR12181:SF29,hmmpanther:PTHR12181																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	90	4781724	4781724	G	T	1	0	0	0	0	0	0	0	1	874	1277	45	2		2	AP5Z1	7	4781724	Silent	SNP	G	C3N-02089_TP	1162503	4781724	154564249	389	29186											
WIPI2	0	.	GRCh38	chr7	5199643	5199643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctgtggataagctggaaCagatctatgaatgcagtaag	13	11	11	6	0	2	2	0	1	2	1	2	4	2	4	0	2	3	3	0	2	5	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.196C>A	p.Gln66Lys	p.Q66K	ENST00000288828	3/13	218	186	32	207	206	1	strelka-varscan-mutect	WIPI2,missense_variant,p.Gln66Lys,ENST00000288828,NM_015610.3;WIPI2,missense_variant,p.Gln48Lys,ENST00000401525,NM_016003.3;WIPI2,missense_variant,p.Gln48Lys,ENST00000382384,NM_001033519.1;WIPI2,missense_variant,p.Gln66Lys,ENST00000404704,NM_001033518.1;WIPI2,non_coding_transcript_exon_variant,,ENST00000485854,;WIPI2,non_coding_transcript_exon_variant,,ENST00000496867,;WIPI2,non_coding_transcript_exon_variant,,ENST00000466014,;	A	ENST00000288828	Transcript	missense_variant	428/4476	196/1365	66/454	Q/K	Cag/Aag		1		1	WIPI2	HGNC	HGNC:32225	protein_coding	YES	CCDS5339.1	ENSP00000288828	Q9Y4P8	A0A024R823	UPI0000073E34	NM_015610.3	tolerated(0.79)		3/13		Gene3D:2.130.10.10,hmmpanther:PTHR11227,hmmpanther:PTHR11227:SF27,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	5199643	5199643	C	A	1	0	0	0	0	1	0	0	0	17927	479	17	2		2	WIPI2	7	5199643	Missense_Mutation	SNP	C	C3N-02089_TP	417919	5199643	154146330	390	29187											
TNRC18	0	.	GRCh38	chr7	5332684	5332684	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcgggctcagggggccgcCcttggcgcagcggctggtct	2	6	19	14	5	2	0	1	0	1	0	2	0	2	0	2	6	1	3	2	6	0	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.6085G>T	p.Gly2029Cys	p.G2029C	ENST00000430969	19/30	212	168	44	166	166	0	strelka-varscan-mutect	TNRC18,missense_variant,p.Gly2029Cys,ENST00000399537,;TNRC18,missense_variant,p.Gly2029Cys,ENST00000430969,NM_001080495.2;TNRC18,missense_variant,p.Gly66Cys,ENST00000455076,;	A	ENST00000430969	Transcript	missense_variant	6434/10562	6085/8907	2029/2968	G/C	Ggc/Tgc		1		-1	TNRC18	HGNC	HGNC:11962	protein_coding	YES	CCDS47534.1	ENSP00000395538	O15417		UPI00016632FD	NM_001080495.2	deleterious(0)		19/30																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	5332684	5332684	C	A	1	0	0	0	0	1	0	0	0	16812	623	22	2		2	TNRC18	7	5332684	Missense_Mutation	SNP	C	C3N-02089_TP	133041	5332684	154013289	391	29188											
FBXL18	0	.	GRCh38	chr7	5501447	5501447	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggtggcgccgctctcCgcgaagctgccagggacgga	5	8	15	13	5	2	0	0	0	2	0	3	3	2	2	3	4	2	2	3	4	1	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.822G>T	p.=	p.A274A	ENST00000382368	3/5	311	218	93	219	218	1	strelka-varscan-mutect	FBXL18,synonymous_variant,p.=,ENST00000382368,NM_024963.4;FBXL18,synonymous_variant,p.=,ENST00000458142,;FBXL18,synonymous_variant,p.=,ENST00000453700,;FBXL18,upstream_gene_variant,,ENST00000620087,;FBXL18,synonymous_variant,p.=,ENST00000415009,;	A	ENST00000382368	Transcript	synonymous_variant	946/3498	822/2157	274/718	A	gcG/gcT		1		-1	FBXL18	HGNC	HGNC:21874	protein_coding	YES	CCDS43546.1	ENSP00000371805	Q96ME1	A0A024R857	UPI000020EA59	NM_024963.4			3/5		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF466																	LOW	1	SNV	5			1										PASS		rs1489828334	.												A	2	1	90	5501447	5501447	C	A	1	0	0	0	0	0	0	0	1	5578	639	23	1		1	FBXL18	7	5501447	Silent	SNP	C	C3N-02089_TP	168763	5501447	153844526	392	29189											
FBXL18	0	.	GRCh38	chr7	5501536	5501536	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtagagccgcaccacctCctggttgatgtagccggggg	7	7	15	12	2	0	2	0	1	0	1	1	2	1	2	5	4	2	4	5	4	2	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.733G>T	p.Glu245Ter	p.E245*	ENST00000382368	3/5	239	200	39	181	181	0	strelka-varscan-mutect	FBXL18,stop_gained,p.Glu245Ter,ENST00000382368,NM_024963.4;FBXL18,stop_gained,p.Glu129Ter,ENST00000458142,;FBXL18,stop_gained,p.Glu245Ter,ENST00000453700,;FBXL18,upstream_gene_variant,,ENST00000620087,;FBXL18,stop_gained,p.Glu245Ter,ENST00000415009,;	A	ENST00000382368	Transcript	stop_gained	857/3498	733/2157	245/718	E/*	Gag/Tag		1		-1	FBXL18	HGNC	HGNC:21874	protein_coding	YES	CCDS43546.1	ENSP00000371805	Q96ME1	A0A024R857	UPI000020EA59	NM_024963.4			3/5		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF466																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	90	5501536	5501536	C	A	1	0	0	0	0	0	1	0	0	5578	864	30	2		2	FBXL18	7	5501536	Nonsense_Mutation	SNP	C	C3N-02089_TP	89	5501536	153844437	393	29190											
C1GALT1	0	.	GRCh38	chr7	7234360	7234360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattttttaaccttcctctGtggatcagcaataggatttc	10	16	7	8	0	2	0	1	0	1	0	4	3	3	2	2	2	2	1	2	2	4	6	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.41G>T	p.Cys14Phe	p.C14F	ENST00000436587	2/4	183	147	36	177	177	0	strelka-varscan-mutect	C1GALT1,missense_variant,p.Cys14Phe,ENST00000436587,NM_020156.4;C1GALT1,missense_variant,p.Cys14Phe,ENST00000223122,;C1GALT1,missense_variant,p.Cys14Phe,ENST00000402468,;C1GALT1,missense_variant,p.Cys14Phe,ENST00000429911,;C1GALT1,missense_variant,p.Cys14Phe,ENST00000419721,;C1GALT1,non_coding_transcript_exon_variant,,ENST00000476068,;	T	ENST00000436587	Transcript	missense_variant	264/6235	41/1092	14/363	C/F	tGt/tTt		1		1	C1GALT1	HGNC	HGNC:24337	protein_coding	YES	CCDS5355.1	ENSP00000389176	Q9NS00	A0A024RA32	UPI000003DC31	NM_020156.4	tolerated(0.73)		2/4		hmmpanther:PTHR23033,hmmpanther:PTHR23033:SF13,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		rs1404632180	.												T	3	4	90	7234360	7234360	G	T	1	0	0	0	0	1	0	0	0	1929	1377	48	2		2	C1GALT1	7	7234360	Missense_Mutation	SNP	G	C3N-02089_TP	1732824	7234360	152111613	394	29191											
THSD7A	0	.	GRCh38	chr7	11406309	11406309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgttgttacctgggcaagGctggctgcaggattcctcca	6	10	13	12	1	0	0	0	0	0	0	2	1	2	1	4	4	2	6	4	4	2	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.4228C>A	p.Pro1410Thr	p.P1410T	ENST00000423059	22/28	91	76	15	73	73	0	strelka-varscan-mutect	THSD7A,missense_variant,p.Pro1410Thr,ENST00000423059,NM_015204.2;THSD7A,missense_variant,p.Pro1410Thr,ENST00000617773,;AC004538.3,intron_variant,,ENST00000445839,;AC004160.4,upstream_gene_variant,,ENST00000425837,;	T	ENST00000423059	Transcript	missense_variant	4480/10663	4228/4974	1410/1657	P/T	Cct/Act		1		-1	THSD7A	HGNC	HGNC:22207	protein_coding	YES	CCDS47543.1	ENSP00000406482	Q9UPZ6		UPI00006C0B74	NM_015204.2	deleterious(0)		22/28		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,SMART_domains:SM00209																	MODERATE		SNV	5			1										PASS		rs980160026	.												T	3	4	90	11406309	11406309	G	T	1	0	0	0	0	1	0	0	0	16313	1203	42	2		2	THSD7A	7	11406309	Missense_Mutation	SNP	G	C3N-02089_TP	4171949	11406309	147939664	395	29192											
TMEM196	0	.	GRCh38	chr7	19772652	19772652	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagccctatctccagcacGgagagcaccaagaggctccc	10	4	9	18	1	1	2	0	0	1	2	3	3	2	2	5	2	3	3	5	2	2	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.45C>A	p.=	p.S15S	ENST00000405764	1/4	117	94	23	73	73	0	strelka-varscan	TMEM196,synonymous_variant,p.=,ENST00000405844,;TMEM196,synonymous_variant,p.=,ENST00000405764,NM_152774.3;TMEM196,intron_variant,,ENST00000422233,;TMEM196,intron_variant,,ENST00000433641,;TMEM196,intron_variant,,ENST00000493519,;	T	ENST00000405764	Transcript	synonymous_variant	742/3975	45/519	15/172	S	tcC/tcA		1		-1	TMEM196	HGNC	HGNC:22431	protein_coding	YES	CCDS34607.2	ENSP00000384234	Q5HYL7		UPI00005A9078	NM_152774.3			1/4		hmmpanther:PTHR28681,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	19772652	19772652	G	T	1	0	0	0	0	0	0	0	1	16558	1103	39	1		1	TMEM196	7	19772652	Silent	SNP	G	C3N-02089_TP	8366343	19772652	139573321	396	29193											
HOXA1	0	.	GRCh38	chr7	27094478	27094478	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgtctgaggtagaagaccCcggggaaggaacgcagggcg	11	4	18	8	3	1	3	0	1	1	2	1	5	1	5	2	5	1	2	2	5	4	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.970G>C	p.Gly324Arg	p.G324R	ENST00000343060	2/2	245	183	62	214	214	0	strelka-varscan-mutect	HOXA1,missense_variant,p.Gly324Arg,ENST00000343060,NM_005522.4;HOXA1,3_prime_UTR_variant,,ENST00000355633,NM_153620.2;HOTAIRM1,upstream_gene_variant,,ENST00000428939,;HOTAIRM1,upstream_gene_variant,,ENST00000429611,;HOTAIRM1,upstream_gene_variant,,ENST00000434063,;HOTAIRM1,upstream_gene_variant,,ENST00000425358,;HOTAIRM1_2,upstream_gene_variant,,ENST00000616712,;HOTAIRM1,upstream_gene_variant,,ENST00000495032,;HOTAIRM1_1,upstream_gene_variant,,ENST00000622675,;	G	ENST00000343060	Transcript	missense_variant	1032/2517	970/1008	324/335	G/R	Ggg/Cgg		1		-1	HOXA1	HGNC	HGNC:5099	protein_coding	YES	CCDS5401.1	ENSP00000343246	P49639		UPI000013C80E	NM_005522.4	tolerated(0.43)		2/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	27094478	27094478	C	G	1	0	0	0	0	1	0	0	0	7182	623	22	4		4	HOXA1	7	27094478	Missense_Mutation	SNP	C	C3N-02089_TP	7321826	27094478	132251495	397	29194											
HOXA4	0	.	GRCh38	chr7	27130622	27130622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggtagccggggccccCgcccgggccgccgtctgcgc	1	5	16	19	6	1	0	0	0	1	0	1	0	1	0	6	4	3	2	6	4	1	1	rs746129531		C3N-02089_TP	C3N-02089_NB	C	C																c.112G>T	p.Gly38Trp	p.G38W	ENST00000360046	1/2	134	101	33	94	94	0	strelka-varscan-mutect	HOXA4,missense_variant,p.Gly38Trp,ENST00000360046,;HOXA4,missense_variant,p.Gly38Trp,ENST00000610970,NM_002141.4;HOXA4,missense_variant,p.Gly38Trp,ENST00000428284,;HOXA3,intron_variant,,ENST00000317201,;HOXA3,intron_variant,,ENST00000522788,;HOXA3,upstream_gene_variant,,ENST00000612286,NM_153631.2;HOXA4,upstream_gene_variant,,ENST00000511914,;HOXA-AS2,intron_variant,,ENST00000521159,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS2,downstream_gene_variant,,ENST00000517550,;HOXA-AS2,downstream_gene_variant,,ENST00000521687,;RP1-170O19.22,intron_variant,,ENST00000467897,;HOXA3,intron_variant,,ENST00000521401,;HOXA3,intron_variant,,ENST00000518451,;	A	ENST00000360046	Transcript	missense_variant	178/1747	112/963	38/320	G/W	Ggg/Tgg	rs746129531,COSM3880401	1		-1	HOXA4	HGNC	HGNC:5105	protein_coding	YES	CCDS5405.1	ENSP00000353151	Q00056		UPI000013C810		deleterious(0.02)		1/2		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF211,Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs746129531	.												A	3	1	90	27130622	27130622	C	A	1	0	0	0	0	1	0	0	0	7188	652	23	1		1	HOXA4	7	27130622	Missense_Mutation	SNP	C	C3N-02089_TP	36144	27130622	132215351	398	29195											
ADCYAP1R1	0	.	GRCh38	chr7	31092714	31092714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagtctccagacatgggagGcaatgagtccagcatctact	11	9	10	11	0	3	2	1	1	2	1	5	3	4	3	2	2	2	2	2	2	2	1			C3N-02089_TP	C3N-02089_NB	G	G																c.1025G>T	p.Gly342Val	p.G342V	ENST00000614107	13/17	162	131	31	164	163	1	strelka-varscan-mutect	ADCYAP1R1,missense_variant,p.Gly342Val,ENST00000614107,NM_001199635.1,NM_001199636.1;ADCYAP1R1,missense_variant,p.Gly342Val,ENST00000304166,NM_001118.4;ADCYAP1R1,missense_variant,p.Gly321Val,ENST00000409363,NM_001199637.1;ADCYAP1R1,missense_variant,p.Gly342Val,ENST00000409489,;ADCYAP1R1,missense_variant,p.Gly342Val,ENST00000396211,;ADCYAP1R1,missense_variant,p.Gly59Val,ENST00000436116,;	T	ENST00000614107	Transcript	missense_variant	1314/6575	1025/1491	342/496	G/V	gGc/gTc	COSM3735292	1		1	ADCYAP1R1	HGNC	HGNC:242	protein_coding	YES	CCDS56480.1	ENSP00000483721	P41586		UPI0000DA58BA	NM_001199635.1,NM_001199636.1	deleterious(0.01)		13/17		Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF228,Superfamily_domains:SSF81321											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	90	31092714	31092714	G	T	1	0	0	0	0	1	0	0	0	347	1203	42	2		2	ADCYAP1R1	7	31092714	Missense_Mutation	SNP	G	C3N-02089_TP	3962092	31092714	128253259	399	29196											
CCDC129	0	.	GRCh38	chr7	31643297	31643297	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaaagctcatcacagtgtAtccccaagcacagtgaaatc	15	7	7	12	0	2	2	2	1	0	1	4	2	3	2	2	0	2	3	2	0	4	1	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.2005A>G	p.Ile669Val	p.I669V	ENST00000451887	11/15	248	221	27	205	205	0	strelka-varscan-mutect	CCDC129,missense_variant,p.Ile495Val,ENST00000319386,;CCDC129,missense_variant,p.Ile653Val,ENST00000615280,NM_001257967.1;CCDC129,missense_variant,p.Ile551Val,ENST00000409210,;CCDC129,missense_variant,p.Ile669Val,ENST00000451887,NM_001257968.1;CCDC129,missense_variant,p.Ile643Val,ENST00000407970,NM_194300.3;	G	ENST00000451887	Transcript	missense_variant	2099/3611	2005/3189	669/1062	I/V	Atc/Gtc		1		1	CCDC129	HGNC	HGNC:27363	protein_coding	YES	CCDS59050.1	ENSP00000395835	Q6ZRS4		UPI00020655D9	NM_001257968.1	tolerated(1)		11/15		hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF14																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	90	31643297	31643297	A	G	1	0	0	0	0	1	0	0	0	2456	449	16	5		5	CCDC129	7	31643297	Missense_Mutation	SNP	A	C3N-02089_TP	550583	31643297	127702676	400	29197											
DPY19L1	0	.	GRCh38	chr7	34973594	34973594	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggagaggtggtgtccacatTacacgggtacactgaaaaaa	14	7	12	8	2	0	2	0	1	0	1	1	3	1	2	1	4	2	1	1	4	5	2	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.615A>G	p.=	p.V205V	ENST00000310974	8/22	80	57	23	59	59	0	strelka-varscan-mutect	DPY19L1,synonymous_variant,p.=,ENST00000638088,;DPY19L1,synonymous_variant,p.=,ENST00000310974,NM_015283.1;DPY19L1,synonymous_variant,p.=,ENST00000446375,;DPY19L1,non_coding_transcript_exon_variant,,ENST00000462134,;DPY19L1,non_coding_transcript_exon_variant,,ENST00000463538,;	C	ENST00000310974	Transcript	synonymous_variant	760/4870	615/2028	205/675	V	gtA/gtG		1		-1	DPY19L1	HGNC	HGNC:22205	protein_coding	YES	CCDS43567.1	ENSP00000308695	Q2PZI1		UPI000067CB92	NM_015283.1			8/22		Transmembrane_helices:TMhelix,hmmpanther:PTHR31488:SF5,hmmpanther:PTHR31488,Pfam_domain:PF10034																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	34973594	34973594	T	C	1	0	0	0	0	0	0	0	1	4555	1741	61	5		5	DPY19L1	7	34973594	Silent	SNP	T	C3N-02089_TP	3330297	34973594	124372379	401	29198											
INHBA	0	.	GRCh38	chr7	41690098	41690098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcctcatctgctcctgccCcaccttcacctccgcccttc	3	13	3	22	1	3	0	2	0	1	0	7	0	6	0	8	0	2	1	8	0	0	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.833G>T	p.Gly278Val	p.G278V	ENST00000242208	3/3	254	174	80	205	204	1	strelka-varscan-mutect	INHBA,missense_variant,p.Gly278Val,ENST00000242208,NM_002192.2;INHBA,missense_variant,p.Gly278Val,ENST00000638023,;INHBA,missense_variant,p.Gly278Val,ENST00000442711,;INHBA-AS1,upstream_gene_variant,,ENST00000415848,;INHBA-AS1,upstream_gene_variant,,ENST00000422822,;INHBA-AS1,upstream_gene_variant,,ENST00000420821,;INHBA,non_coding_transcript_exon_variant,,ENST00000464515,;INHBA,intron_variant,,ENST00000416150,;	A	ENST00000242208	Transcript	missense_variant	1080/6064	833/1281	278/426	G/V	gGg/gTg		1		-1	INHBA	HGNC	HGNC:6066	protein_coding	YES	CCDS5464.1	ENSP00000242208	P08476	A4D1W7	UPI000012D421	NM_002192.2	deleterious(0.04)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR11848:SF133,hmmpanther:PTHR11848,Pfam_domain:PF00688																	MODERATE	1	SNV	1			1										PASS		rs1191953816	.												A	3	1	90	41690098	41690098	C	A	1	0	0	0	0	1	0	0	0	7643	623	22	2		2	INHBA	7	41690098	Missense_Mutation	SNP	C	C3N-02089_TP	6716504	41690098	117655875	402	29199											
ADCY1	0	.	GRCh38	chr7	45622693	45622693	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagtgcacagcccaggagCtggtgaaactcctcaatgag	11	6	11	13	0	1	2	1	2	0	0	2	3	2	3	3	2	4	2	3	2	2	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.970C>A	p.Leu324Met	p.L324M	ENST00000297323	4/20	226	187	39	185	185	0	strelka-varscan-mutect	ADCY1,missense_variant,p.Leu324Met,ENST00000297323,NM_021116.2;ADCY1,missense_variant,p.Leu99Met,ENST00000432715,NM_001281768.1;ADCY1,missense_variant,p.Leu99Met,ENST00000621543,;	A	ENST00000297323	Transcript	missense_variant	992/12503	970/3360	324/1119	L/M	Ctg/Atg		1		1	ADCY1	HGNC	HGNC:232	protein_coding	YES	CCDS34631.1	ENSP00000297323	Q08828		UPI0000199C4A	NM_021116.2	deleterious(0.01)		4/20		PROSITE_profiles:PS50125,hmmpanther:PTHR11920:SF336,hmmpanther:PTHR11920,Pfam_domain:PF00211,PIRSF_domain:PIRSF039050,Gene3D:3.30.70.1230,SMART_domains:SM00044,Superfamily_domains:SSF55073																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	45622693	45622693	C	A	1	0	0	0	0	1	0	0	0	336	796	28	2		2	ADCY1	7	45622693	Missense_Mutation	SNP	C	C3N-02089_TP	3932595	45622693	113723280	403	29200											
ABCA13	0	.	GRCh38	chr7	48507884	48507884	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acccgcagcctggagagcatCcgtcagtgtggagtggccct	7	7	14	13	2	1	1	1	0	0	1	2	3	2	2	4	3	2	2	4	3	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.13359C>A	p.=	p.I4453I	ENST00000435803	50/62	88	68	20	75	74	1	strelka-varscan-mutect	ABCA13,synonymous_variant,p.=,ENST00000435803,NM_152701.4;ABCA13,synonymous_variant,p.=,ENST00000544596,;ABCA13,synonymous_variant,p.=,ENST00000411975,;ABCA13,synonymous_variant,p.=,ENST00000435451,;ABCA13,non_coding_transcript_exon_variant,,ENST00000611776,;ABCA13,synonymous_variant,p.=,ENST00000453246,;	A	ENST00000435803	Transcript	synonymous_variant	13383/17184	13359/15177	4453/5058	I	atC/atA		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.4			50/62		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,Pfam_domain:PF12698																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	48507884	48507884	C	A	1	0	0	0	0	0	0	0	1	35	845	30	2		2	ABCA13	7	48507884	Silent	SNP	C	C3N-02089_TP	2885191	48507884	110838089	404	29201											
POM121L12	0	.	GRCh38	chr7	53035894	53035894	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcgcccggtgcccagcAcccacctcatcgaggtgcgg	5	4	16	16	4	1	0	1	0	0	0	2	1	1	0	4	5	3	1	4	5	0	0	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.223A>T	p.Thr75Ser	p.T75S	ENST00000408890	1/1	223	187	36	176	176	0	strelka-varscan-mutect	POM121L12,missense_variant,p.Thr75Ser,ENST00000408890,NM_182595.3;	T	ENST00000408890	Transcript	missense_variant	253/1283	223/891	75/296	T/S	Acc/Tcc		1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3	tolerated(0.42)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	90	53035894	53035894	A	T	1	0	0	0	0	1	0	0	0	12352	159	6	4		4	POM121L12	7	53035894	Missense_Mutation	SNP	A	C3N-02089_TP	4528010	53035894	106310079	405	29202											
WBSCR17	0	.	GRCh38	chr7	71571364	71571364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcttctggatcctggcatgGatgtatacggaggagaaaat	11	11	13	6	1	2	1	0	0	2	1	3	5	3	4	1	5	1	2	1	5	4	3			C3N-02089_TP	C3N-02089_NB	G	G																c.1042G>A	p.Asp348Asn	p.D348N	ENST00000333538	6/11	276	222	54	243	243	0	strelka-varscan	WBSCR17,missense_variant,p.Asp348Asn,ENST00000333538,NM_022479.2;WBSCR17,missense_variant,p.Asp269Asn,ENST00000618959,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;	A	ENST00000333538	Transcript	missense_variant	1676/3884	1042/1797	348/598	D/N	Gat/Aat	COSM3640212	1		1	WBSCR17	HGNC	HGNC:16347	protein_coding	YES	CCDS5540.1	ENSP00000329654	Q6IS24	Q2L4S5	UPI00000502D5	NM_022479.2	tolerated(0.19)		6/11		Gene3D:3.90.550.10,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Superfamily_domains:SSF53448											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	90	71571364	71571364	G	A	1	0	0	0	0	1	0	0	0	17823	1174	41	3		3	WBSCR17	7	71571364	Missense_Mutation	SNP	G	C3N-02089_TP	18535470	71571364	87774609	406	29203											
HGF	0	.	GRCh38	chr7	81717236	81717236	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaactgtacttacaacgAgaaatagggcaataatccca	16	8	6	11	1	0	1	0	0	0	1	1	2	1	1	2	1	4	2	2	1	8	5	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1401T>G	p.=	p.S467S	ENST00000222390	11/18	233	161	72	315	314	1	strelka-varscan	HGF,synonymous_variant,p.=,ENST00000222390,NM_000601.4;HGF,synonymous_variant,p.=,ENST00000457544,NM_001010932.1;	C	ENST00000222390	Transcript	synonymous_variant	1628/5989	1401/2187	467/728	S	tcT/tcG		1		-1	HGF	HGNC	HGNC:4893	protein_coding	YES	CCDS5597.1	ENSP00000222390	P14210		UPI000000D92B	NM_000601.4			11/18		PROSITE_profiles:PS50070,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152,Gene3D:2.40.20.10,Pfam_domain:PF00051,SMART_domains:SM00130,Superfamily_domains:SSF57440																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	81717236	81717236	A	C	1	0	0	0	0	0	0	0	1	6969	318	11	5		5	HGF	7	81717236	Silent	SNP	A	C3N-02089_TP	10145872	81717236	77628737	407	29204											
PCLO	0	.	GRCh38	chr7	82847248	82847248	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattccaatacttgcatccCtagaaagacaaatttgaata	16	11	4	10	0	0	3	0	1	0	2	2	3	2	3	3	0	2	1	3	0	7	6	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.13655-1G>T		p.X4552_splice	ENST00000333891		97	69	28	95	95	0	strelka-varscan	PCLO,splice_acceptor_variant,,ENST00000333891,NM_033026.5;PCLO,splice_acceptor_variant,,ENST00000423517,NM_014510.2;PCLO,splice_acceptor_variant,,ENST00000618073,;PCLO,splice_acceptor_variant,,ENST00000426442,;PCLO,splice_acceptor_variant,,ENST00000413807,;PCLO,splice_acceptor_variant,,ENST00000456006,;	A	ENST00000333891	Transcript	splice_acceptor_variant	-/20329	13655/15429	4552/5142				1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5				10/24																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	90	82847248	82847248	C	A	1	0	0	0	0	0	0	1	0	11671	695	24	2		2	PCLO	7	82847248	Splice_Site	SNP	C	C3N-02089_TP	1130012	82847248	76498725	408	29205											
PCLO	0	.	GRCh38	chr7	82953281	82953281	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtggggaaagtggggaggTaggggaaggcaatttataat	12	9	19	1	0	0	0	0	0	0	0	0	3	0	3	0	8	0	2	0	8	6	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.7672A>T	p.Thr2558Ser	p.T2558S	ENST00000333891	5/25	173	117	56	231	231	0	strelka-varscan	PCLO,missense_variant,p.Thr2558Ser,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Thr2558Ser,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;	A	ENST00000333891	Transcript	missense_variant	8010/20329	7672/15429	2558/5142	T/S	Acc/Tcc		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	tolerated(0.08)		5/25		Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	90	82953281	82953281	T	A	1	0	0	0	0	1	0	0	0	11671	1638	57	4		4	PCLO	7	82953281	Missense_Mutation	SNP	T	C3N-02089_TP	106033	82953281	76392692	409	29206											
CDK14	0	.	GRCh38	chr7	90917724	90917724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttaaagctggcagatttcGgtaggaaagcagttaattac	14	11	11	5	1	0	1	0	0	0	1	1	2	0	2	0	3	3	6	0	3	6	5	rs756057096		C3N-02089_TP	C3N-02089_NB	G	G																c.826G>T	p.Gly276Cys	p.G276C	ENST00000380050	8/15	91	69	22	109	109	0	strelka-varscan	CDK14,missense_variant,p.Gly230Cys,ENST00000406263,NM_001287136.1;CDK14,missense_variant,p.Gly276Cys,ENST00000380050,NM_001287135.1;CDK14,missense_variant,p.Gly258Cys,ENST00000265741,NM_012395.3;CDK14,missense_variant,p.Gly147Cys,ENST00000436577,NM_001287137.1;CDK14,splice_region_variant,,ENST00000487145,;CDK14,splice_region_variant,,ENST00000431029,;	T	ENST00000380050	Transcript	missense_variant,splice_region_variant	957/4995	826/1410	276/469	G/C	Ggt/Tgt	rs756057096,COSM3950943,COSM3950944	1		1	CDK14	HGNC	HGNC:8883	protein_coding	YES	CCDS75626.1	ENSP00000369390	O94921		UPI000013EAF4	NM_001287135.1	deleterious(0)		8/15		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF154,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		.	.												T	3	4	90	90917724	90917724	G	T	1	0	0	0	0	1	0	0	0	2834	1130	39	1		1	CDK14	7	90917724	Missense_Mutation	SNP	G	C3N-02089_TP	7964443	90917724	68428249	410	29207											
FZD1	0	.	GRCh38	chr7	91265677	91265677	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcggcttcccggggggcgCcggcgcgtcggagcgaggca	3	4	21	13	8	0	0	0	0	0	0	2	2	1	1	2	8	1	2	2	8	0	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.797C>G	p.Ala266Gly	p.A266G	ENST00000287934	1/1	65	53	12	61	61	0	strelka-varscan	FZD1,missense_variant,p.Ala266Gly,ENST00000287934,NM_003505.1;	G	ENST00000287934	Transcript	missense_variant	1314/6963	797/1944	266/647	A/G	gCc/gGc		1		1	FZD1	HGNC	HGNC:4038	protein_coding	YES	CCDS5620.1	ENSP00000287934	Q9UP38		UPI000005104D	NM_003505.1	tolerated(0.46)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF81																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	90	91265677	91265677	C	G	1	0	0	0	0	1	0	0	0	5999	739	26	4		4	FZD1	7	91265677	Missense_Mutation	SNP	C	C3N-02089_TP	347953	91265677	68080296	411	29208											
LRRD1	0	.	GRCh38	chr7	92146131	92146131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaggtttagtttttgaCataaaaattcaaaattggtt	13	17	7	4	0	1	1	1	1	0	0	1	1	1	1	1	2	1	3	1	2	6	9	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2348G>T	p.Cys783Phe	p.C783F	ENST00000458448	5/6	70	56	14	106	106	0	strelka-varscan	LRRD1,missense_variant,p.Cys783Phe,ENST00000458448,;LRRD1,missense_variant,p.Cys783Phe,ENST00000430130,NM_001161528.1;LRRD1,intron_variant,,ENST00000343318,;CYP51A1,upstream_gene_variant,,ENST00000435873,;CYP51A1-AS1,intron_variant,,ENST00000453068,;LRRD1,intron_variant,,ENST00000422722,;	A	ENST00000458448	Transcript	missense_variant	2549/2830	2348/2583	783/860	C/F	tGt/tTt		1		-1	LRRD1	HGNC	HGNC:34300	protein_coding	YES	CCDS55124.1	ENSP00000405987	A4D1F6		UPI0001662314		deleterious(0.01)		5/6		Gene3D:1.10.533.10,PROSITE_profiles:PS50017																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	92146131	92146131	C	A	1	0	0	0	0	1	0	0	0	8932	478	17	2		2	LRRD1	7	92146131	Missense_Mutation	SNP	C	C3N-02089_TP	880454	92146131	67199842	412	29209											
SAMD9L	0	.	GRCh38	chr7	93134541	93134541	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctcccacatgttagtTgtcttgtcttcatattgatt	7	20	5	9	0	5	1	1	1	4	0	6	1	5	1	1	0	0	2	1	0	2	8	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1431A>T	p.=	p.T477T	ENST00000318238	5/5	202	152	50	233	233	0	strelka-varscan	SAMD9L,synonymous_variant,p.=,ENST00000318238,NM_001303500.1,NM_152703.3;SAMD9L,synonymous_variant,p.=,ENST00000411955,NM_001303496.1,NM_001303498.1;SAMD9L,synonymous_variant,p.=,ENST00000437805,NM_001303497.1;SAMD9L,intron_variant,,ENST00000610760,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000439952,;SAMD9L,downstream_gene_variant,,ENST00000414791,;	A	ENST00000318238	Transcript	synonymous_variant	2648/7134	1431/4755	477/1584	T	acA/acT		1		-1	SAMD9L	HGNC	HGNC:1349	protein_coding	YES	CCDS34681.1	ENSP00000326247	Q8IVG5		UPI000020F567	NM_001303500.1,NM_152703.3			5/5		hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	93134541	93134541	T	A	1	0	0	0	0	0	0	0	1	14087	1799	63	4		4	SAMD9L	7	93134541	Silent	SNP	T	C3N-02089_TP	988410	93134541	66211432	413	29210											
CALCR	0	.	GRCh38	chr7	93479399	93479399	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattcggtcatagcattTgtactgtgcatccatcatct	8	15	7	11	1	3	0	2	0	1	0	5	0	4	0	1	1	4	4	1	1	2	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.214A>T	p.Lys72Ter	p.K72*	ENST00000359558	5/16	153	103	50	142	141	1	strelka-varscan	CALCR,stop_gained,p.Lys72Ter,ENST00000359558,NM_001164737.1;CALCR,stop_gained,p.Lys54Ter,ENST00000421592,;CALCR,stop_gained,p.Lys54Ter,ENST00000394441,NM_001164738.1;CALCR,stop_gained,p.Lys54Ter,ENST00000426151,NM_001742.3;CALCR,stop_gained,p.Lys54Ter,ENST00000360249,;MIR653,downstream_gene_variant,,ENST00000385279,;MIR489,downstream_gene_variant,,ENST00000384923,;CALCR,stop_gained,p.Lys54Ter,ENST00000423724,;CALCR,stop_gained,p.Lys54Ter,ENST00000415529,;	A	ENST00000359558	Transcript	stop_gained	514/3696	214/1527	72/508	K/*	Aaa/Taa		1		-1	CALCR	HGNC	HGNC:1440	protein_coding	YES	CCDS55125.1	ENSP00000352561		A0A0A0MRG0	UPI0001B8380B	NM_001164737.1			5/16		PROSITE_profiles:PS50227,hmmpanther:PTHR12011:SF84,hmmpanther:PTHR12011,Superfamily_domains:SSF111418,Prints_domain:PR01350,Prints_domain:PR00361																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	90	93479399	93479399	T	A	1	0	0	0	0	0	1	0	0	2269	1821	63	4		4	CALCR	7	93479399	Nonsense_Mutation	SNP	T	C3N-02089_TP	344858	93479399	65866574	414	29211											
PEG10	0	.	GRCh38	chr7	94664395	94664395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggaggtgcccgcatgcGcctgacgcaggaagaaaaag	11	4	17	9	3	0	2	0	1	0	1	0	4	0	4	2	4	2	2	2	4	3	0	rs556674678		C3N-02089_TP	C3N-02089_NB	G	G																c.1067G>T	p.Arg356Leu	p.R356L	ENST00000488574	2/2	114	85	29	125	125	0	strelka-varscan	PEG10,missense_variant,p.Arg280Leu,ENST00000482108,NM_015068.3,NM_001184961.1,NM_001172437.2,NM_001040152.1;PEG10,missense_variant,p.Arg314Leu,ENST00000615790,NM_001184962.1;PEG10,missense_variant,p.Arg314Leu,ENST00000612941,;PEG10,missense_variant,p.Arg280Leu,ENST00000617526,;PEG10,missense_variant,p.Arg356Leu,ENST00000488574,NM_001172438.2;PEG10,missense_variant,p.Arg356Leu,ENST00000612748,;PEG10,downstream_gene_variant,,ENST00000613043,;PEG10,intron_variant,,ENST00000493935,;PEG10,upstream_gene_variant,,ENST00000465184,;	T	ENST00000488574	Transcript	missense_variant	1284/2587	1067/1206	356/401	R/L	cGc/cTc	rs556674678,COSM5076254	1		1	PEG10	HGNC	HGNC:14005	protein_coding	YES	CCDS75636.1	ENSP00000418944		B4DSP0	UPI0000037665	NM_001172438.2	deleterious(0)		2/2		hmmpanther:PTHR15503:SF10,hmmpanther:PTHR15503											0,1						MODERATE	1	SNV	2		0,1	1										PASS		.	.												T	3	4	90	94664395	94664395	G	T	1	0	0	0	0	1	0	0	0	11807	1087	38	1		1	PEG10	7	94664395	Missense_Mutation	SNP	G	C3N-02089_TP	1184996	94664395	64681578	415	29212											
TMEM130	0	.	GRCh38	chr7	98851560	98851560	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggccacggacacagggtgGcactccccttcctccagcgg	6	6	12	17	2	0	0	0	0	0	0	3	1	3	1	5	5	1	1	5	5	0	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.867C>A	p.Cys289Ter	p.C289*	ENST00000416379	6/8	130	89	41	116	116	0	strelka-varscan	TMEM130,stop_gained,p.Cys205Ter,ENST00000450876,;TMEM130,stop_gained,p.Cys289Ter,ENST00000339375,NM_152913.2;TMEM130,stop_gained,p.Cys289Ter,ENST00000416379,NM_001134450.1;TMEM130,stop_gained,p.Cys187Ter,ENST00000345589,NM_001134451.1;TMEM130,non_coding_transcript_exon_variant,,ENST00000461092,;TMEM130,upstream_gene_variant,,ENST00000474857,;	T	ENST00000416379	Transcript	stop_gained	872/2881	867/1308	289/435	C/*	tgC/tgA		1		-1	TMEM130	HGNC	HGNC:25429	protein_coding	YES	CCDS47650.1	ENSP00000413163	Q8N3G9		UPI000006EF2E	NM_001134450.1			6/8		hmmpanther:PTHR11861:SF10,hmmpanther:PTHR11861																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	90	98851560	98851560	G	T	1	0	0	0	0	0	1	0	0	16487	1195	42	2		2	TMEM130	7	98851560	Nonsense_Mutation	SNP	G	C3N-02089_TP	4187165	98851560	60494413	416	29213											
GPC2	0	.	GRCh38	chr7	100176280	100176280	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaccaggcctcggaaGgtggcctcagtctccctgat	6	9	10	16	1	2	1	1	1	1	0	6	2	4	2	6	4	0	0	6	4	1	0	rs373333632		C3N-02089_TP	C3N-02089_NB	G	G																c.252C>A	p.=	p.T84T	ENST00000292377	2/10	278	192	86	257	256	1	strelka-varscan	GPC2,synonymous_variant,p.=,ENST00000292377,NM_152742.2;STAG3,upstream_gene_variant,,ENST00000426455,NM_001282716.1;STAG3,upstream_gene_variant,,ENST00000615138,NM_001282717.1;STAG3,upstream_gene_variant,,ENST00000620100,;STAG3,upstream_gene_variant,,ENST00000317296,NM_012447.3;STAG3,upstream_gene_variant,,ENST00000394018,NM_001282718.1;STAG3,upstream_gene_variant,,ENST00000439782,;STAG3,upstream_gene_variant,,ENST00000416412,;STAG3,upstream_gene_variant,,ENST00000422690,;GPC2,upstream_gene_variant,,ENST00000490629,;GPC2,synonymous_variant,p.=,ENST00000480087,;GPC2,non_coding_transcript_exon_variant,,ENST00000471717,;STAG3,upstream_gene_variant,,ENST00000496157,;GPC2,upstream_gene_variant,,ENST00000486702,;STAG3,upstream_gene_variant,,ENST00000482546,;	T	ENST00000292377	Transcript	synonymous_variant	420/2532	252/1740	84/579	T	acC/acA	rs373333632	1		-1	GPC2	HGNC	HGNC:4450	protein_coding	YES	CCDS5689.1	ENSP00000292377	Q8N158		UPI000005340D	NM_152742.2			2/10		hmmpanther:PTHR10822:SF24,hmmpanther:PTHR10822,Pfam_domain:PF01153																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	100176280	100176280	G	T	1	0	0	0	0	0	0	0	1	6500	987	35	2		2	GPC2	7	100176280	Silent	SNP	G	C3N-02089_TP	1324720	100176280	59169693	417	29214											
PILRB	0	.	GRCh38	chr7	100358956	100358956	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggagagcggcttcctcAggatctcaaacctgcggaag	10	7	13	11	2	3	1	3	0	1	1	5	4	4	3	2	4	3	1	2	4	2	1	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.331A>T	p.Arg111Trp	p.R111W	ENST00000452089	7/9	473	345	128	444	444	0	strelka-varscan	PILRB,missense_variant,p.Gln163Leu,ENST00000448382,;PILRB,missense_variant,p.Arg111Trp,ENST00000452089,;PILRB,missense_variant,p.Arg111Trp,ENST00000457519,;PILRB,missense_variant,p.Arg30Trp,ENST00000438028,;PILRB,missense_variant,p.Arg111Trp,ENST00000422808,;PILRB,missense_variant,p.Arg111Trp,ENST00000419749,;PILRB,missense_variant,p.Arg111Trp,ENST00000443526,;PILRB,missense_variant,p.Arg111Trp,ENST00000609309,NM_178238.3;PILRB,missense_variant,p.Gln41Leu,ENST00000431140,;PILRB,missense_variant,p.Arg111Trp,ENST00000438231,;PILRB,missense_variant,p.Arg111Trp,ENST00000608825,;PILRB,downstream_gene_variant,,ENST00000455145,;PILRB,downstream_gene_variant,,ENST00000611937,;STAG3L5P-PVRIG2P-PILRB,non_coding_transcript_exon_variant,,ENST00000310771,;STAG3L5P-PVRIG2P-PILRB,non_coding_transcript_exon_variant,,ENST00000444874,;STAG3L5P-PVRIG2P-PILRB,downstream_gene_variant,,ENST00000472646,;PILRB,downstream_gene_variant,,ENST00000493091,;	T	ENST00000452089	Transcript	missense_variant	1390/2099	331/684	111/227	R/W	Agg/Tgg		1		1	PILRB	HGNC	HGNC:18297	protein_coding	YES	CCDS43622.1	ENSP00000391748	Q9UKJ0		UPI000006EEBC		deleterious(0.01)		7/9		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR15549,hmmpanther:PTHR15549:SF7,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	90	100358956	100358956	A	T	1	0	0	0	0	1	0	0	0	12021	188	7	4		4	PILRB	7	100358956	Missense_Mutation	SNP	A	C3N-02089_TP	182676	100358956	58987017	418	29215											
ZAN	0	.	GRCh38	chr7	100773351	100773351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccagacacctgcagcaGcataaacaacccgagggact	13	4	9	15	1	0	1	0	0	0	1	0	3	0	2	3	1	6	3	3	1	3	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.5492G>T	p.Ser1831Ile	p.S1831I	ENST00000613979	30/48	262	188	74	292	292	0	strelka-varscan	ZAN,missense_variant,p.Ser1831Ile,ENST00000613979,NM_003386.2;ZAN,missense_variant,p.Ser1831Ile,ENST00000618565,;ZAN,missense_variant,p.Ser1831Ile,ENST00000620596,NM_173059.2;ZAN,missense_variant,p.Ser1831Ile,ENST00000546292,;ZAN,missense_variant,p.Ser1831Ile,ENST00000542585,;ZAN,missense_variant,p.Ser1831Ile,ENST00000538115,;ZAN,missense_variant,p.Ser1831Ile,ENST00000546213,;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,;	T	ENST00000613979	Transcript	missense_variant	5657/8669	5492/8439	1831/2812	S/I	aGc/aTc		1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.2	deleterious(0)		30/48		Gene3D:2.10.25.10,Pfam_domain:PF01826,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF221,Low_complexity_(Seg):seg,SMART_domains:SM00181,Superfamily_domains:SSF57567																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	100773351	100773351	G	T	1	0	0	0	0	1	0	0	0	18074	971	34	2		2	ZAN	7	100773351	Missense_Mutation	SNP	G	C3N-02089_TP	414395	100773351	58572622	419	29216											
MUC17	0	.	GRCh38	chr7	101043621	101043621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccacctacatttcctcctGctcactccagtacacctcca	8	11	2	20	0	1	0	1	0	0	0	6	0	6	0	7	0	3	2	7	0	2	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.12205G>T	p.Ala4069Ser	p.A4069S	ENST00000306151	3/13	135	90	45	144	144	0	strelka-varscan	MUC17,missense_variant,p.Ala4069Ser,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ala4069Ser,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;	T	ENST00000306151	Transcript	missense_variant	12269/14247	12205/13482	4069/4493	A/S	Gct/Tct		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	tolerated(0.28)		3/13		Low_complexity_(Seg):seg,hmmpanther:PTHR37999:SF1,hmmpanther:PTHR37999																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	101043621	101043621	G	T	1	0	0	0	0	1	0	0	0	9973	1319	46	2		2	MUC17	7	101043621	Missense_Mutation	SNP	G	C3N-02089_TP	270270	101043621	58302352	420	29217											
CUX1	0	.	GRCh38	chr7	102196963	102196963	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacagcacaaactccataTcttcccaaagtccattacaa	16	9	2	14	0	1	0	0	0	1	0	4	0	4	0	3	0	4	1	3	0	6	4	rs781975744		C3N-02089_TP	C3N-02089_NB	T	T																c.1585T>G	p.Ser529Ala	p.S529A	ENST00000360264	15/24	204	164	40	243	243	0	strelka-varscan	CUX1,missense_variant,p.Ser529Ala,ENST00000360264,NM_001202543.1;CUX1,missense_variant,p.Ser518Ala,ENST00000292535,NM_181552.3;CUX1,missense_variant,p.Ser518Ala,ENST00000549414,;CUX1,missense_variant,p.Ser518Ala,ENST00000550008,;CUX1,missense_variant,p.Ser416Ala,ENST00000546411,;CUX1,missense_variant,p.Ser416Ala,ENST00000556210,;CUX1,intron_variant,,ENST00000437600,NM_001913.4;CUX1,intron_variant,,ENST00000622516,NM_181500.3;CUX1,intron_variant,,ENST00000292538,;CUX1,intron_variant,,ENST00000547394,NM_001202544.2;CUX1,intron_variant,,ENST00000425244,NM_001202545.2;CUX1,intron_variant,,ENST00000393824,NM_001202546.2;SNORA48,upstream_gene_variant,,ENST00000517015,;CUX1,intron_variant,,ENST00000560541,;CUX1,intron_variant,,ENST00000558836,;	G	ENST00000360264	Transcript	missense_variant	1605/13762	1585/4551	529/1516	S/A	Tct/Gct	rs781975744	1		1	CUX1	HGNC	HGNC:2557	protein_coding	YES	CCDS56498.1	ENSP00000353401	P39880		UPI00001AEB98	NM_001202543.1	tolerated(0.41)		15/24		Low_complexity_(Seg):seg,hmmpanther:PTHR14043:SF4,hmmpanther:PTHR14043																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	102196963	102196963	T	G	1	0	0	0	0	1	0	0	0	3874	1435	50	5		5	CUX1	7	102196963	Missense_Mutation	SNP	T	C3N-02089_TP	1153342	102196963	57149010	421	29218											
CUX1	0	.	GRCh38	chr7	102274301	102274301	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaaagaggccactgccCtattctacggtaaggagagg	12	7	11	11	1	2	2	1	0	1	2	2	3	2	2	3	4	2	1	3	4	4	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1441C>G	p.Leu481Val	p.L481V	ENST00000437600	16/23	104	88	16	111	111	0	strelka-varscan	CUX1,missense_variant,p.Leu481Val,ENST00000437600,NM_001913.4;CUX1,missense_variant,p.Leu479Val,ENST00000622516,NM_181500.3;CUX1,missense_variant,p.Leu481Val,ENST00000292538,;CUX1,missense_variant,p.Leu465Val,ENST00000547394,NM_001202544.2;CUX1,missense_variant,p.Leu435Val,ENST00000425244,NM_001202545.2;CUX1,missense_variant,p.Leu442Val,ENST00000393824,NM_001202546.2;CUX1,non_coding_transcript_exon_variant,,ENST00000560541,;CUX1,non_coding_transcript_exon_variant,,ENST00000558836,;CUX1,non_coding_transcript_exon_variant,,ENST00000487284,;	G	ENST00000437600	Transcript	missense_variant	1568/3031	1441/2037	481/678	L/V	Cta/Gta		1		1	CUX1	HGNC	HGNC:2557	protein_coding		CCDS5720.1	ENSP00000414091	Q13948		UPI00001A95D5	NM_001913.4	tolerated_low_confidence(0.15)		16/23		hmmpanther:PTHR14043:SF15,hmmpanther:PTHR14043,Pfam_domain:PF08172																	MODERATE		SNV	1			1										PASS		.	.												G	3	3	90	102274301	102274301	C	G	1	0	0	0	0	1	0	0	0	3874	680	24	4		4	CUX1	7	102274301	Missense_Mutation	SNP	C	C3N-02089_TP	77338	102274301	57071672	422	29219											
RELN	0	.	GRCh38	chr7	103589688	103589688	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctcacttagttctctGgagtttccttcgcatccttt	4	17	9	11	1	2	0	1	0	1	0	6	1	4	1	2	2	0	4	2	2	1	5	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.4053C>A	p.=	p.S1351S	ENST00000428762	28/65	521	373	148	485	485	0	strelka-varscan	RELN,synonymous_variant,p.=,ENST00000424685,;RELN,synonymous_variant,p.=,ENST00000428762,NM_005045.3;RELN,synonymous_variant,p.=,ENST00000343529,NM_173054.2;	T	ENST00000428762	Transcript	synonymous_variant	4213/11571	4053/10383	1351/3460	S	tcC/tcA		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3			28/65		hmmpanther:PTHR11841																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	90	103589688	103589688	G	T	1	0	0	0	0	0	0	0	1	13390	1335	47	2		2	RELN	7	103589688	Silent	SNP	G	C3N-02089_TP	1315387	103589688	55756285	423	29220											
LAMB4	0	.	GRCh38	chr7	108034328	108034328	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgttttgtcaagatttaaTagaatatttgctgctttcct	11	19	6	5	0	1	2	1	0	0	2	2	2	2	2	1	0	2	3	1	0	6	8	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.4698A>C	p.=	p.L1566L	ENST00000388781	31/34	138	118	20	180	180	0	strelka-varscan	LAMB4,synonymous_variant,p.=,ENST00000388781,NM_007356.2;LAMB4,synonymous_variant,p.=,ENST00000205386,NM_001318046.1;LAMB4,synonymous_variant,p.=,ENST00000422975,;LAMB4,non_coding_transcript_exon_variant,,ENST00000483484,;LAMB4,non_coding_transcript_exon_variant,,ENST00000475572,;	G	ENST00000388781	Transcript	synonymous_variant	4782/5858	4698/5286	1566/1761	L	ctA/ctC		1		-1	LAMB4	HGNC	HGNC:6491	protein_coding	YES	CCDS34732.1	ENSP00000373433	A4D0S4		UPI0000198CD5	NM_007356.2			31/34		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	90	108034328	108034328	T	G	1	0	0	0	0	0	0	0	1	8517	1393	49	5		5	LAMB4	7	108034328	Silent	SNP	T	C3N-02089_TP	4444640	108034328	51311645	424	29221											
LAMB4	0	.	GRCh38	chr7	108116044	108116044	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatttctgggctctgctcAgcccacaggtagaagaagcc	10	9	11	11	0	3	2	1	0	2	2	3	2	3	2	2	2	3	4	2	2	4	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.152T>A	p.Leu51Gln	p.L51Q	ENST00000388781	3/34	146	94	52	132	132	0	strelka-varscan	LAMB4,missense_variant,p.Leu51Gln,ENST00000388781,NM_007356.2;LAMB4,missense_variant,p.Leu51Gln,ENST00000205386,NM_001318046.1;LAMB4,missense_variant,p.Leu51Gln,ENST00000418464,NM_001318048.1;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;	T	ENST00000388781	Transcript	missense_variant	236/5858	152/5286	51/1761	L/Q	cTg/cAg		1		-1	LAMB4	HGNC	HGNC:6491	protein_coding	YES	CCDS34732.1	ENSP00000373433	A4D0S4		UPI0000198CD5	NM_007356.2	deleterious(0)		3/34		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF279,SMART_domains:SM00136																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	108116044	108116044	A	T	1	0	0	0	0	1	0	0	0	8517	188	7	4		4	LAMB4	7	108116044	Missense_Mutation	SNP	A	C3N-02089_TP	81716	108116044	51229929	425	29222											
DNAJB9	0	.	GRCh38	chr7	108573194	108573194	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatttgatgacatgtttgaAgatatggagaaaatgttttc	13	17	9	2	0	0	5	0	3	0	2	1	6	0	5	0	1	0	2	0	1	5	6	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.513A>C	p.Glu171Asp	p.E171D	ENST00000249356	3/3	171	160	11	198	198	0	strelka-varscan	DNAJB9,missense_variant,p.Glu171Asp,ENST00000249356,NM_012328.2;THAP5,upstream_gene_variant,,ENST00000415914,NM_001130475.2;THAP5,upstream_gene_variant,,ENST00000313516,NM_182529.3;THAP5,upstream_gene_variant,,ENST00000438865,;DNAJB9,intron_variant,,ENST00000465725,;THAP5,upstream_gene_variant,,ENST00000493722,;THAP5,upstream_gene_variant,,ENST00000412935,;PNPLA8,upstream_gene_variant,,ENST00000489738,;THAP5,upstream_gene_variant,,ENST00000468884,;THAP5,upstream_gene_variant,,ENST00000446771,;THAP5,upstream_gene_variant,,ENST00000484452,;DNAJB9,downstream_gene_variant,,ENST00000491582,;	C	ENST00000249356	Transcript	missense_variant	1059/2715	513/672	171/223	E/D	gaA/gaC		1		1	DNAJB9	HGNC	HGNC:6968	protein_coding	YES	CCDS5752.1	ENSP00000249356	Q9UBS3	Q6FIF1	UPI000000D769	NM_012328.2	tolerated(0.7)		3/3		hmmpanther:PTHR24078																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	108573194	108573194	A	C	1	0	0	0	0	1	0	0	0	4441	69	3	5		5	DNAJB9	7	108573194	Missense_Mutation	SNP	A	C3N-02089_TP	457150	108573194	50772779	426	29223											
PTPRZ1	0	.	GRCh38	chr7	122061122	122061122	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgatcctcagccttgtgAgcacaaggcaggaagagaat	14	7	12	8	0	1	3	1	2	0	1	2	5	2	4	2	2	2	2	2	2	4	1	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.6850A>T	p.Ser2284Cys	p.S2284C	ENST00000393386	30/30	71	52	19	65	65	0	strelka-varscan	PTPRZ1,missense_variant,p.Ser2284Cys,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,missense_variant,p.Ser1417Cys,ENST00000449182,NM_001206839.1;PTPRZ1,non_coding_transcript_exon_variant,,ENST00000474500,;	T	ENST00000393386	Transcript	missense_variant	7261/8175	6850/6948	2284/2315	S/C	Agc/Tgc		1		1	PTPRZ1	HGNC	HGNC:9685	protein_coding	YES	CCDS34740.1	ENSP00000377047	P23471		UPI000020F9BB	NM_001206838.1,NM_002851.2	deleterious(0)		30/30		Gene3D:3.90.190.10,SMART_domains:SM00194																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	122061122	122061122	A	T	1	0	0	0	0	1	0	0	0	12969	304	11	4		4	PTPRZ1	7	122061122	Missense_Mutation	SNP	A	C3N-02089_TP	13487928	122061122	37284851	427	29224											
GRM8	0	.	GRCh38	chr7	126533230	126533230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcaatgatgatgtggggggGatccacaacaaaccagacaa	15	6	12	8	0	1	3	1	2	0	1	2	4	2	4	2	3	2	0	2	3	4	0	rs770527898		C3N-02089_TP	C3N-02089_NB	G	G																c.2152C>A	p.Pro718Thr	p.P718T	ENST00000339582	9/11	76	67	9	112	112	0	strelka-varscan	GRM8,missense_variant,p.Pro718Thr,ENST00000339582,NM_000845.2;GRM8,missense_variant,p.Pro718Thr,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Pro226Thr,ENST00000444921,;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,missense_variant,p.Pro718Thr,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	T	ENST00000339582	Transcript	missense_variant	2961/4057	2152/2727	718/908	P/T	Ccc/Acc	rs770527898,COSM5406411,COSM5406412	1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2	tolerated(0.06)		9/11		Pfam_domain:PF00003,Prints_domain:PR00248,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		.	.												T	3	4	90	126533230	126533230	G	T	1	0	0	0	0	1	0	0	0	6685	1174	41	2		2	GRM8	7	126533230	Missense_Mutation	SNP	G	C3N-02089_TP	4472108	126533230	32812743	428	29225											
PRRT4	0	.	GRCh38	chr7	128352323	128352323	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagcgggaaggcccgcgtGgtcccggccgacagcagcag	9	2	17	13	5	0	1	0	0	0	1	1	3	1	2	3	4	3	2	3	4	2	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1233C>A	p.=	p.T411T	ENST00000446477	6/6	429	330	99	381	381	0	strelka-varscan	PRRT4,synonymous_variant,p.=,ENST00000446477,NM_001174164.1;PRRT4,synonymous_variant,p.=,ENST00000535159,;PRRT4,synonymous_variant,p.=,ENST00000489517,;PRRT4,intron_variant,,ENST00000489835,NM_001114726.2;PRRT4,intron_variant,,ENST00000480290,;	T	ENST00000446477	Transcript	synonymous_variant	1547/3544	1233/2700	411/899	T	acC/acA		1		-1	PRRT4	HGNC	HGNC:37280	protein_coding	YES	CCDS55160.1	ENSP00000415026	C9JH25		UPI0000DD7E1D	NM_001174164.1			6/6		hmmpanther:PTHR35578,hmmpanther:PTHR35578:SF1,Transmembrane_helices:TMhelix																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	90	128352323	128352323	G	T	1	0	0	0	0	0	0	0	1	12758	1335	47	2		2	PRRT4	7	128352323	Silent	SNP	G	C3N-02089_TP	1819093	128352323	30993650	429	29226											
SLC13A4	0	.	GRCh38	chr7	135691255	135691255	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagaatgacaatctcccaGggcatggtcttctggaagtc	11	9	10	11	0	3	2	0	1	3	1	5	3	3	3	2	3	0	1	2	3	3	1	rs758216229		C3N-02089_TP	C3N-02089_NB	G	G																c.1389C>A	p.=	p.P463P	ENST00000354042	13/16	180	121	59	177	177	0	strelka-varscan	SLC13A4,synonymous_variant,p.=,ENST00000354042,NM_001318192.1,NM_012450.2;C7orf73,intron_variant,,ENST00000422968,;SLC13A4,non_coding_transcript_exon_variant,,ENST00000471405,;C7orf73,intron_variant,,ENST00000509448,;	T	ENST00000354042	Transcript	synonymous_variant	2079/2897	1389/1881	463/626	P	ccC/ccA	rs758216229	1		-1	SLC13A4	HGNC	HGNC:15827	protein_coding	YES	CCDS5840.1	ENSP00000297282	Q9UKG4		UPI00000343D9	NM_001318192.1,NM_012450.2			13/16		Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF63																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	135691255	135691255	G	T	1	0	0	0	0	0	0	0	1	14659	987	35	2		2	SLC13A4	7	135691255	Silent	SNP	G	C3N-02089_TP	7338932	135691255	23654718	430	29227											
HIPK2	0	.	GRCh38	chr7	139620494	139620494	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgaaaggggttttgctCtggttcaccgtgtcatacat	8	14	12	7	1	3	2	2	2	1	0	3	2	3	2	1	3	2	3	1	3	2	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1689G>T	p.Gln563His	p.Q563H	ENST00000406875	7/15	253	177	76	291	291	0	strelka-varscan	HIPK2,missense_variant,p.Gln563His,ENST00000406875,NM_022740.4;HIPK2,missense_variant,p.Gln563His,ENST00000428878,NM_001113239.2;HIPK2,missense_variant,p.Gln556His,ENST00000342645,;	A	ENST00000406875	Transcript	missense_variant	1784/15049	1689/3597	563/1198	Q/H	caG/caT		1		-1	HIPK2	HGNC	HGNC:14402	protein_coding	YES	CCDS75667.1	ENSP00000385571	Q9H2X6		UPI000012C71E	NM_022740.4	tolerated(0.27)		7/15		hmmpanther:PTHR24058:SF53,hmmpanther:PTHR24058																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	139620494	139620494	C	A	1	0	0	0	0	1	0	0	0	7005	912	32	2		2	HIPK2	7	139620494	Missense_Mutation	SNP	C	C3N-02089_TP	3929239	139620494	19725479	431	29228											
MGAM2	0	.	GRCh38	chr7	142197494	142197494	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccttatctctatactcTgatgcataaagctcacgttg	9	15	6	11	1	3	1	1	1	2	0	5	1	4	1	1	0	3	4	1	0	5	6	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.4727T>C	p.Leu1576Pro	p.L1576P	ENST00000477922	41/48	156	109	47	188	188	0	strelka-varscan	MGAM2,missense_variant,p.Leu1576Pro,ENST00000477922,NM_001293626.1;MGAM2,non_coding_transcript_exon_variant,,ENST00000496337,;	C	ENST00000477922	Transcript	missense_variant	4781/7867	4727/7548	1576/2515	L/P	cTg/cCg		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	deleterious(0)		41/48		Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF55,Low_complexity_(Seg):seg,Superfamily_domains:SSF51445																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	90	142197494	142197494	T	C	1	0	0	0	0	1	0	0	0	9500	1580	55	5		5	MGAM2	7	142197494	Missense_Mutation	SNP	T	C3N-02089_TP	2577000	142197494	17148479	432	29229											
OR6V1	0	.	GRCh38	chr7	143052726	143052726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccatctgccacccactgcGctatggcactctgatgagcc	7	8	10	16	1	2	2	0	2	2	0	2	2	2	2	4	2	3	2	4	2	1	1	rs201116298		C3N-02089_TP	C3N-02089_NB	G	G																c.386G>T	p.Arg129Leu	p.R129L	ENST00000418316	1/1	156	122	34	211	211	0	strelka-varscan	OR6V1,missense_variant,p.Arg129Leu,ENST00000418316,NM_001001667.1;	T	ENST00000418316	Transcript	missense_variant	407/1028	386/942	129/313	R/L	cGc/cTc	rs201116298	1		1	OR6V1	HGNC	HGNC:15090	protein_coding	YES	CCDS47728.1	ENSP00000396085	Q8N148	A0A126GWQ4	UPI0000041C19	NM_001001667.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	90	143052726	143052726	G	T	1	0	0	0	0	1	0	0	0	11281	1087	38	1		1	OR6V1	7	143052726	Missense_Mutation	SNP	G	C3N-02089_TP	855232	143052726	16293247	433	29230											
ZNF746	0	.	GRCh38	chr7	149474759	149474759	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgaggtgcgcggggcgCgtgaagcaacggccgcactc	7	4	18	12	7	0	2	0	2	0	0	1	3	0	3	1	5	3	2	1	5	2	0			C3N-02089_TP	C3N-02089_NB	C	C																c.1563G>T	p.=	p.T521T	ENST00000458143	7/7	101	68	33	95	95	0	strelka-varscan	ZNF746,synonymous_variant,p.=,ENST00000340622,NM_152557.4;ZNF746,synonymous_variant,p.=,ENST00000458143,NM_001163474.1;ZNF746,downstream_gene_variant,,ENST00000471735,;	A	ENST00000458143	Transcript	synonymous_variant	1834/3797	1563/1938	521/645	T	acG/acT	COSM3879192	1		-1	ZNF746	HGNC	HGNC:21948	protein_coding	YES	CCDS55180.1	ENSP00000395007	Q6NUN9		UPI00015DA840	NM_001163474.1			7/7		PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF13,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						LOW	1	SNV	2		1	1										PASS		.	.												A	2	1	90	149474759	149474759	C	A	1	0	0	0	0	0	0	0	1	18712	755	27	1		1	ZNF746	7	149474759	Silent	SNP	C	C3N-02089_TP	6422033	149474759	9871214	434	29231											
SSPO	0	.	GRCh38	chr7	149791381	149791381	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccccaatggcacctgcatAggcttccagctggtgagggt	7	9	13	12	0	0	1	0	1	0	0	1	1	1	1	4	4	3	4	4	4	2	2	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.5004A>T	p.=	p.I1668I	ENST00000378016	32/107	213	167	46	224	224	0	strelka-varscan	SSPO,synonymous_variant,p.=,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;	T	ENST00000378016	Transcript	synonymous_variant	5004/15589	5004/15453	1668/5150	I	atA/atT		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2			32/107		Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424,PROSITE_profiles:PS50068,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF294,Prints_domain:PR00261																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	90	149791381	149791381	A	T	1	0	0	0	0	0	0	0	1	15566	410	15	4		4	SSPO	7	149791381	Silent	SNP	A	C3N-02089_TP	316622	149791381	9554592	435	29232											
SSPO	0	.	GRCh38	chr7	149826546	149826546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgtgtgcaggagccctGccagcctggctgtggctgcc	4	9	14	14	0	1	0	0	0	1	0	1	1	1	1	4	3	5	3	4	3	0	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.14555G>T	p.Cys4852Phe	p.C4852F	ENST00000378016	99/107	202	127	75	216	216	0	strelka-varscan	SSPO,missense_variant,p.Cys4852Phe,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,non_coding_transcript_exon_variant,,ENST00000492965,;SSPO,intron_variant,,ENST00000488835,;SSPO,intron_variant,,ENST00000461331,;SSPO,non_coding_transcript_exon_variant,,ENST00000465639,;SSPO,non_coding_transcript_exon_variant,,ENST00000472850,;	T	ENST00000378016	Transcript	missense_variant	14555/15589	14555/15453	4852/5150	C/F	tGc/tTc		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2	deleterious(0)		99/107		Low_complexity_(Seg):seg,Pfam_domain:PF01826,Gene3D:2.10.25.10,Superfamily_domains:SSF57567,hmmpanther:PTHR11339:SF294,hmmpanther:PTHR11339																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	149826546	149826546	G	T	1	0	0	0	0	1	0	0	0	15566	1319	46	2		2	SSPO	7	149826546	Missense_Mutation	SNP	G	C3N-02089_TP	35165	149826546	9519427	436	29233											
ATG9B	0	.	GRCh38	chr7	151021284	151021284	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttggaccagccagaagccGgcagccaggaccaggaggag	12	2	16	11	1	0	1	0	0	0	1	0	5	0	5	5	5	3	2	5	5	1	1	rs758260577,rs765626055		C3N-02089_TP	C3N-02089_NB	G	G																c.867C>G	p.=	p.A289A	ENST00000605952	5/17	97	67	30	92	92	0	strelka-varscan	ATG9B,synonymous_variant,p.=,ENST00000469530,NM_173681.5;ATG9B,non_coding_transcript_exon_variant,,ENST00000617967,;ATG9B,non_coding_transcript_exon_variant,,ENST00000473409,;ATG9B,non_coding_transcript_exon_variant,,ENST00000466157,;ATG9B,upstream_gene_variant,,ENST00000611177,;ATG9B,synonymous_variant,p.=,ENST00000605952,;ATG9B,non_coding_transcript_exon_variant,,ENST00000473134,;	C	ENST00000605952	Transcript	synonymous_variant,NMD_transcript_variant	943/4572	867/2775	289/924	A	gcC/gcG	rs758260577,rs765626055	1		-1	ATG9B	HGNC	HGNC:21899	nonsense_mediated_decay	YES		ENSP00000475737	Q674R7		UPI00004286C0				5/17		Transmembrane_helices:TMhelix,hmmpanther:PTHR13038:SF14,hmmpanther:PTHR13038																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	151021284	151021284	G	C	1	0	0	0	0	0	0	0	1	1255	1103	39	4		4	ATG9B	7	151021284	Silent	SNP	G	C3N-02089_TP	1194738	151021284	8324689	437	29234											
PRKAG2	0	.	GRCh38	chr7	151568823	151568823	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattttatttttgatcaaggAgtatacagcatcgaagaggc	13	13	10	5	1	1	2	1	1	0	1	2	5	1	3	0	2	2	2	0	2	5	6	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1126T>G	p.Ser376Ala	p.S376A	ENST00000287878	11/16	385	332	53	402	402	0	strelka-varscan	PRKAG2,missense_variant,p.Ser376Ala,ENST00000287878,NM_016203.3;PRKAG2,missense_variant,p.Ser252Ala,ENST00000492843,NM_001304527.1;PRKAG2,missense_variant,p.Ser135Ala,ENST00000418337,NM_024429.1,NM_001304531.1;PRKAG2,missense_variant,p.Ser332Ala,ENST00000392801,NM_001040633.1;PRKAG2,missense_variant,p.Ser135Ala,ENST00000476632,;PRKAG2,missense_variant,p.Ser60Ala,ENST00000478989,;PRKAG2,3_prime_UTR_variant,,ENST00000488258,;PRKAG2,downstream_gene_variant,,ENST00000491938,;PRKAG2,downstream_gene_variant,,ENST00000493872,;PRKAG2,upstream_gene_variant,,ENST00000479461,;PRKAG2,upstream_gene_variant,,ENST00000485183,;	C	ENST00000287878	Transcript	missense_variant	1631/3305	1126/1710	376/569	S/A	Tcc/Gcc		1		-1	PRKAG2	HGNC	HGNC:9386	protein_coding	YES	CCDS5928.1	ENSP00000287878	Q9UGJ0	A0A090N8Q6	UPI00001250B5	NM_016203.3	tolerated(0.1)		11/16		Gene3D:3.10.580.10,Pfam_domain:PF00571,PROSITE_profiles:PS51371,hmmpanther:PTHR13780,hmmpanther:PTHR13780:SF26,SMART_domains:SM00116,Superfamily_domains:SSF54631																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	151568823	151568823	A	C	1	0	0	0	0	1	0	0	0	12634	304	11	5		5	PRKAG2	7	151568823	Missense_Mutation	SNP	A	C3N-02089_TP	547539	151568823	7777150	438	29235											
HTR5A	0	.	GRCh38	chr7	155071235	155071235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgctggcagctaggtcggagGctgtgccagctttggatcgc	5	9	16	11	3	0	0	0	0	0	0	2	2	0	2	1	5	3	5	1	5	1	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.336G>T	p.Arg112Ser	p.R112S	ENST00000287907	1/2	191	149	42	160	160	0	strelka-varscan	HTR5A,missense_variant,p.Arg112Ser,ENST00000287907,NM_024012.3;HTR5A-AS1,non_coding_transcript_exon_variant,,ENST00000395731,;HTR5A-AS1,non_coding_transcript_exon_variant,,ENST00000493904,;RP11-5C23.4,upstream_gene_variant,,ENST00000637588,;	T	ENST00000287907	Transcript	missense_variant	912/2912	336/1074	112/357	R/S	agG/agT		1		1	HTR5A	HGNC	HGNC:5300	protein_coding	YES	CCDS5936.1	ENSP00000287907	P47898	A4D2N2	UPI000004477E	NM_024012.3	tolerated(0.78)		1/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF108,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	155071235	155071235	G	T	1	0	0	0	0	1	0	0	0	7346	1194	42	2		2	HTR5A	7	155071235	Missense_Mutation	SNP	G	C3N-02089_TP	3502412	155071235	4274738	439	29236											
ERICH1	0	.	GRCh38	chr8	668702	668702	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtacaggatggacacgTctgagggcagcatgctgtgt	8	10	16	7	1	1	1	0	1	1	0	1	3	1	3	0	4	3	4	0	4	1	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1154A>T	p.Asp385Val	p.D385V	ENST00000262109	5/6	257	232	25	234	234	0	strelka-varscan-mutect	ERICH1,missense_variant,p.Asp154Val,ENST00000522893,;ERICH1,missense_variant,p.Asp385Val,ENST00000262109,NM_207332.2;ERICH1,missense_variant,p.Asp291Val,ENST00000522706,;ERICH1,downstream_gene_variant,,ENST00000518895,;ERICH1,missense_variant,p.Asp44Val,ENST00000523415,;ERICH1,non_coding_transcript_exon_variant,,ENST00000523053,;	A	ENST00000262109	Transcript	missense_variant	1232/1813	1154/1332	385/443	D/V	gAc/gTc		1		-1	ERICH1	HGNC	HGNC:27234	protein_coding	YES	CCDS5955.1	ENSP00000262109	Q86X53		UPI000000DB6B	NM_207332.2	deleterious(0)		5/6		hmmpanther:PTHR22444:SF1,hmmpanther:PTHR22444																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	668702	668702	T	A	1	0	0	0	0	1	0	0	0	5081	1667	58	4		4	ERICH1	8	668702	Missense_Mutation	SNP	T	C3N-02089_TP		668702	144469934	440	29237											
CSMD1	0	.	GRCh38	chr8	3367183	3367183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcggaaaaacttccatcCtctgtgatcagtaaatagtc	12	11	8	10	1	2	1	1	1	1	0	6	2	4	2	2	2	1	2	2	2	5	3	rs749444650		C3N-02089_TP	C3N-02089_NB	C	C																c.2967G>T	p.Glu989Asp	p.E989D	ENST00000520002	21/71	355	289	66	371	371	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Glu850Asp,ENST00000537824,;CSMD1,missense_variant,p.Glu469Asp,ENST00000335551,;CSMD1,missense_variant,p.Glu989Asp,ENST00000520002,;CSMD1,missense_variant,p.Glu989Asp,ENST00000602557,;CSMD1,missense_variant,p.Glu988Asp,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Glu989Asp,ENST00000400186,;CSMD1,missense_variant,p.Glu989Asp,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	A	ENST00000520002	Transcript	missense_variant	3523/11740	2967/10698	989/3565	E/D	gaG/gaT	rs749444650,COSM4860975,COSM750624,COSM750625	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		tolerated(0.09)		21/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854											0,1,1,1						MODERATE	1	SNV	5		0,1,1,1	1										PASS		rs749444650	.												A	3	1	90	3367183	3367183	C	A	1	0	0	0	0	1	0	0	0	3745	680	24	2		2	CSMD1	8	3367183	Missense_Mutation	SNP	C	C3N-02089_TP	2698481	3367183	141771453	441	29238											
CSMD1	0	.	GRCh38	chr8	3708482	3708482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgacttcaactcaatcGcctttttcactggaagaaac	11	13	5	12	1	4	2	3	1	1	1	5	3	4	3	1	1	2	0	1	1	4	4	rs752440260		C3N-02089_TP	C3N-02089_NB	G	G																c.941C>T	p.Ala314Val	p.A314V	ENST00000520002	7/71	198	164	34	250	250	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Ala176Val,ENST00000537824,;CSMD1,missense_variant,p.Ala314Val,ENST00000520002,;CSMD1,missense_variant,p.Ala314Val,ENST00000602557,;CSMD1,missense_variant,p.Ala314Val,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Ala314Val,ENST00000400186,;CSMD1,missense_variant,p.Ala314Val,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000518151,;	A	ENST00000520002	Transcript	missense_variant	1497/11740	941/10698	314/3565	A/V	gCg/gTg	rs752440260,COSM4675006,COSM4675007,COSM4675008,COSM4856945,COSM486409,COSM486410	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0.04)		7/71													0,1,1,1,1,1,1						MODERATE	1	SNV	5		0,1,1,1,1,1,1	1										PASS		rs752440260	.												A	3	1	90	3708482	3708482	G	A	1	0	0	0	0	1	0	0	0	3745	1087	38	1		1	CSMD1	8	3708482	Missense_Mutation	SNP	G	C3N-02089_TP	341299	3708482	141430154	442	29239											
XKR5	0	.	GRCh38	chr8	6812010	6812010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcattgatcttagacaCatttcctgtttttagggcaa	9	14	10	8	1	1	2	0	1	1	1	2	2	2	2	1	3	0	3	1	3	3	6	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1249G>T	p.Val417Leu	p.V417L	ENST00000618742	7/7	419	326	93	520	519	1	strelka-varscan-mutect	XKR5,missense_variant,p.Val417Leu,ENST00000618742,NM_207411.4,NM_001289973.1;XKR5,3_prime_UTR_variant,,ENST00000618990,;	A	ENST00000618742	Transcript	missense_variant	1400/4893	1249/2061	417/686	V/L	Gtg/Ttg		1		-1	XKR5	HGNC	HGNC:20782	protein_coding	YES		ENSP00000483879		A0A087X143	UPI0000EE786F	NM_207411.4,NM_001289973.1	tolerated(0.1)		7/7		hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF21																	MODERATE	1	SNV	1			1										PASS		rs1223247093	.												A	3	1	90	6812010	6812010	C	A	1	0	0	0	0	1	0	0	0	17993	478	17	2		2	XKR5	8	6812010	Missense_Mutation	SNP	C	C3N-02089_TP	3103528	6812010	138326626	443	29240											
USP17L7	0	.	GRCh38	chr8	12133680	12133680	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacgtttgagagtcctcccgGgacagcatgtagttggaaag	10	9	13	9	2	0	1	0	1	0	1	2	4	2	3	2	2	1	4	2	2	2	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.330C>A	p.=	p.S110S	ENST00000530447	1/1	456	399	57	592	591	1	strelka-varscan-mutect	USP17L7,synonymous_variant,p.=,ENST00000530447,NM_001256869.1;USP17L2,downstream_gene_variant,,ENST00000333796,NM_201402.2;FAM66D,intron_variant,,ENST00000434078,;RP11-1236K1.8,upstream_gene_variant,,ENST00000526505,;	T	ENST00000530447	Transcript	synonymous_variant	765/2028	330/1593	110/530	S	tcC/tcA		1		-1	USP17L7	HGNC	HGNC:37180	protein_coding	YES	CCDS78305.1	ENSP00000485337	P0C7H9		UPI00001972BD	NM_001256869.1			1/1		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF511,Superfamily_domains:SSF54001																	LOW		SNV				1										PASS		rs1445369381	.												T	2	4	90	12133680	12133680	G	T	1	0	0	0	0	0	0	0	1	17589	1219	43	2		2	USP17L7	8	12133680	Silent	SNP	G	C3N-02089_TP	5321670	12133680	133004956	444	29241											
USP17L2	0	.	GRCh38	chr8	12137255	12137255	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagaagcgagggtgccAgtgttcacggactcctgatc	9	8	14	10	2	1	2	1	1	0	1	3	5	2	3	2	2	3	2	2	2	1	1	rs770432787		C3N-02089_TP	C3N-02089_NB	A	A																c.1506T>A	p.=	p.T502T	ENST00000333796	1/1	738	663	75	785	785	0	strelka-varscan-mutect	USP17L2,synonymous_variant,p.=,ENST00000333796,NM_201402.2;USP17L7,upstream_gene_variant,,ENST00000530447,NM_001256869.1;FAM66D,intron_variant,,ENST00000434078,;	T	ENST00000333796	Transcript	synonymous_variant	1823/1910	1506/1593	502/530	T	acT/acA	rs770432787	1		-1	USP17L2	HGNC	HGNC:34434	protein_coding	YES	CCDS43713.1	ENSP00000333329	Q6R6M4		UPI0000198137	NM_201402.2			1/1																			LOW		SNV				1										PASS		rs770432787	.												T	2	4	90	12137255	12137255	A	T	1	0	0	0	0	0	0	0	1	17586	175	7	4		4	USP17L2	8	12137255	Silent	SNP	A	C3N-02089_TP	3575	12137255	133001381	445	29242											
RHOBTB2	0	.	GRCh38	chr8	23010577	23010577	+	Missense_Mutation	SNP	G	G	T																															gcaagagctgcatgcgggccGtgctggaatacctctacacc																								rs747011587		C3N-02089_TP	C3N-02089_NB	G	G																c.1726G>T	p.Val576Leu	p.V576L	ENST00000519685	9/12	123	104	19	102	102	0	strelka-varscan	RHOBTB2,missense_variant,p.Val554Leu,ENST00000251822,NM_015178.2;RHOBTB2,missense_variant,p.Val561Leu,ENST00000522948,NM_001160037.1;RHOBTB2,missense_variant,p.Val576Leu,ENST00000519685,NM_001160036.1;RHOBTB2,downstream_gene_variant,,ENST00000524077,;RP11-875O11.1,intron_variant,,ENST00000502083,;RP11-875O11.1,upstream_gene_variant,,ENST00000523884,;RHOBTB2,downstream_gene_variant,,ENST00000523918,;RHOBTB2,non_coding_transcript_exon_variant,,ENST00000519210,;	T	ENST00000519685	Transcript	missense_variant	2009/3505	1726/2250	576/749	V/L	Gtg/Ttg	rs747011587	1		1	RHOBTB2	HGNC	HGNC:18756	protein_coding	YES	CCDS55210.1	ENSP00000427926	Q9BYZ6		UPI000020FD0D	NM_001160036.1	tolerated(0.75)		9/12		PROSITE_profiles:PS50097,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	23010577	23010577	G	T	1	0	0	0	0	1	0	0	0	13507	1145	40	1		1	RHOBTB2	8	23010577	Missense_Mutation	SNP	G	C3N-02089_TP	10873322	23010577	122128059	446	29243	609	2									
RHOBTB2	0	.	GRCh38	chr8	23010580	23010580	+	Missense_Mutation	SNP	C	C	G																															agagctgcatgcgggccgtgCtggaatacctctacaccggc																								novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1729C>G	p.Leu577Val	p.L577V	ENST00000519685	9/12	135	114	21	108	108	0	strelka-varscan	RHOBTB2,missense_variant,p.Leu555Val,ENST00000251822,NM_015178.2;RHOBTB2,missense_variant,p.Leu562Val,ENST00000522948,NM_001160037.1;RHOBTB2,missense_variant,p.Leu577Val,ENST00000519685,NM_001160036.1;RHOBTB2,downstream_gene_variant,,ENST00000524077,;RP11-875O11.1,intron_variant,,ENST00000502083,;RP11-875O11.1,upstream_gene_variant,,ENST00000523884,;RHOBTB2,downstream_gene_variant,,ENST00000523918,;RHOBTB2,non_coding_transcript_exon_variant,,ENST00000519210,;	G	ENST00000519685	Transcript	missense_variant	2012/3505	1729/2250	577/749	L/V	Ctg/Gtg		1		1	RHOBTB2	HGNC	HGNC:18756	protein_coding	YES	CCDS55210.1	ENSP00000427926	Q9BYZ6		UPI000020FD0D	NM_001160036.1	deleterious(0.02)		9/12		PROSITE_profiles:PS50097,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	23010580	23010580	C	G	1	0	0	0	0	1	0	0	0	13507	796	28	4		4	RHOBTB2	8	23010580	Missense_Mutation	SNP	C	C3N-02089_TP	3	23010580	122128056	447	29244	609	2									
TNFRSF10A	0	.	GRCh38	chr8	23191907	23191907	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcctgctgtaccagcTctgaccacatcgatctcatt	7	11	8	15	1	2	1	1	1	2	0	4	2	2	1	4	1	3	3	4	1	1	2	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1194A>G	p.=	p.R398R	ENST00000221132	10/10	428	396	32	385	382	3	strelka-varscan	TNFRSF10A,synonymous_variant,p.=,ENST00000221132,NM_003844.3;TNFRSF10A,synonymous_variant,p.=,ENST00000613472,;RP11-1149O23.2,downstream_gene_variant,,ENST00000518308,;TNFRSF10A,non_coding_transcript_exon_variant,,ENST00000519862,;	C	ENST00000221132	Transcript	synonymous_variant	1259/2714	1194/1407	398/468	R	agA/agG		1		-1	TNFRSF10A	HGNC	HGNC:11904	protein_coding	YES	CCDS6039.1	ENSP00000221132	O00220		UPI000013C7A8	NM_003844.3			10/10		PROSITE_profiles:PS50017,hmmpanther:PTHR23097:SF113,hmmpanther:PTHR23097,Pfam_domain:PF00531,Gene3D:1.10.533.10,PIRSF_domain:PIRSF037867,SMART_domains:SM00005,Superfamily_domains:SSF47986																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	23191907	23191907	T	C	1	0	0	0	0	0	0	0	1	16754	1548	54	5		5	TNFRSF10A	8	23191907	Silent	SNP	T	C3N-02089_TP	181327	23191907	121946729	448	29245											
ADAM28	0	.	GRCh38	chr8	24343585	24343585	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactcctcagtggtcttccGtaggtaacattacacatcta	10	13	7	11	1	3	1	1	1	2	0	5	1	5	1	2	2	2	2	2	2	4	5	rs753075591		C3N-02089_TP	C3N-02089_NB	G	G																c.1990+1G>T		p.X664_splice	ENST00000265769		183	153	30	152	152	0	strelka-varscan	ADAM28,splice_donor_variant,,ENST00000265769,NM_001304351.1,NM_014265.5;ADAM28,splice_donor_variant,,ENST00000521629,;ADAM28,splice_donor_variant,,ENST00000518326,;RP11-624C23.1,intron_variant,,ENST00000518988,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523700,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAM28,upstream_gene_variant,,ENST00000518737,;ADAM28,splice_donor_variant,,ENST00000523236,;ADAM28,splice_donor_variant,,ENST00000520665,;ADAM28,3_prime_UTR_variant,,ENST00000520448,;	T	ENST00000265769	Transcript	splice_donor_variant	-/7052	1990/2328	664/775			rs753075591	1		1	ADAM28	HGNC	HGNC:206	protein_coding	YES	CCDS34865.1	ENSP00000265769	Q9UKQ2		UPI000049E0B9	NM_001304351.1,NM_014265.5				18/22																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	90	24343585	24343585	G	T	1	0	0	0	0	0	0	1	0	290	1159	40	1		1	ADAM28	8	24343585	Splice_Site	SNP	G	C3N-02089_TP	1151678	24343585	120795051	449	29246											
NUGGC	0	.	GRCh38	chr8	28074376	28074376	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagatgttacctggatgcGgttcctggccaaaaacatcc	12	9	9	11	1	0	1	0	0	0	1	2	2	2	2	4	3	3	2	4	3	4	2	rs74881103		C3N-02089_TP	C3N-02089_NB	G	G																c.35C>G	p.Pro12Arg	p.P12R	ENST00000413272	2/19	236	183	53	234	234	0	strelka-varscan	NUGGC,missense_variant,p.Pro12Arg,ENST00000413272,NM_001010906.1;NUGGC,missense_variant,p.Pro12Arg,ENST00000418860,;	C	ENST00000413272	Transcript	missense_variant	178/3887	35/2391	12/796	P/R	cCg/cGg	rs74881103	1		-1	NUGGC	HGNC	HGNC:33550	protein_coding	YES	CCDS47833.1	ENSP00000408697	Q68CJ6		UPI0000237454	NM_001010906.1	tolerated_low_confidence(0.18)		2/19																			MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	90	28074376	28074376	G	C	1	0	0	0	0	1	0	0	0	10814	1116	39	4		4	NUGGC	8	28074376	Missense_Mutation	SNP	G	C3N-02089_TP	3730791	28074376	117064260	450	29247											
KIF13B	0	.	GRCh38	chr8	29109945	29109945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacgatctaaagtcaggagGttttctacagccagcacgct	12	9	10	10	2	3	1	1	0	2	1	3	3	3	2	1	2	3	3	1	2	3	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.4056C>T	p.=	p.N1352N	ENST00000524189	33/40	138	121	17	169	169	0	strelka-varscan	KIF13B,synonymous_variant,p.=,ENST00000524189,NM_015254.3;KIF13B,upstream_gene_variant,,ENST00000523130,;CTD-2647L4.1,upstream_gene_variant,,ENST00000523661,;	A	ENST00000524189	Transcript	synonymous_variant	4095/8745	4056/5481	1352/1826	N	aaC/aaT		1		-1	KIF13B	HGNC	HGNC:14405	protein_coding	YES	CCDS55217.1	ENSP00000427900	Q9NQT8		UPI000035B257	NM_015254.3			33/40																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	29109945	29109945	G	A	1	0	0	0	0	0	0	0	1	8139	1252	44	3		3	KIF13B	8	29109945	Silent	SNP	G	C3N-02089_TP	1035569	29109945	116028691	451	29248											
KCNU1	0	.	GRCh38	chr8	36918831	36918831	+	Frame_Shift_Del	DEL	C	C	-																															tcttctttgcagaggagactCcaggttacacaaatggacat																								novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2531delC	p.Pro844GlnfsTer22	p.P844Qfs*22	ENST00000399881	23/27	129	103	26	129	129	0	sindel-varindel-pindel	KCNU1,frameshift_variant,p.Pro844GlnfsTer22,ENST00000399881,NM_001031836.2;KCNU1,frameshift_variant,p.Pro844GlnfsTer22,ENST00000522372,;	-	ENST00000399881	Transcript	frameshift_variant	2567/3695	2530/3450	844/1149	P/X	Cca/ca		1		1	KCNU1	HGNC	HGNC:18867	protein_coding	YES	CCDS55220.1	ENSP00000382770	A8MYU2		UPI0000F079EF	NM_001031836.2			23/27		Gene3D:3.40.50.720																	HIGH	1	deletion	2	1		1										PASS		.	.												-	7	5	90	36918831	36918831	C	-	1	0	1	0	1	0	0	0	0	8009	855	30	0		0	KCNU1	8	36918831	Frame_Shift_Del	DEL	C	C3N-02089_TP	7808886	36918831	108219805	452	29249											
ZNF703	0	.	GRCh38	chr8	37698088	37698088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacctcggcggctccagctGctccacctgcagcgcgcacg	5	5	12	19	5	0	0	0	0	0	0	3	0	2	0	4	2	4	6	4	2	0	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1187G>T	p.Cys396Phe	p.C396F	ENST00000331569	2/2	233	176	57	193	193	0	strelka-varscan	ZNF703,missense_variant,p.Cys396Phe,ENST00000331569,NM_025069.2;	T	ENST00000331569	Transcript	missense_variant	1416/3349	1187/1773	396/590	C/F	tGc/tTc		1		1	ZNF703	HGNC	HGNC:25883	protein_coding	YES	CCDS6094.1	ENSP00000332325	Q9H7S9		UPI0000073D30	NM_025069.2	deleterious(0)		2/2		hmmpanther:PTHR12522,hmmpanther:PTHR12522:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	37698088	37698088	G	T	1	0	0	0	0	1	0	0	0	18679	1319	46	2		2	ZNF703	8	37698088	Missense_Mutation	SNP	G	C3N-02089_TP	779257	37698088	107440548	453	29250											
TM2D2	0	.	GRCh38	chr8	38996222	38996222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtagcttacaggtaagagCagaggatgaccggagagtgg	12	7	17	5	1	0	4	0	1	0	3	0	6	0	5	1	5	3	4	1	5	3	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.218G>T	p.Cys73Phe	p.C73F	ENST00000456397	1/4	97	88	9	87	87	0	strelka-varscan	TM2D2,missense_variant,p.Cys73Phe,ENST00000456397,NM_078473.2;TM2D2,5_prime_UTR_variant,,ENST00000397070,NM_031940.3;TM2D2,intron_variant,,ENST00000456845,NM_001024380.1,NM_001024381.1;TM2D2,intron_variant,,ENST00000522142,;TM2D2,intron_variant,,ENST00000517872,;TM2D2,intron_variant,,ENST00000520152,;ADAM9,upstream_gene_variant,,ENST00000487273,NM_003816.2;ADAM9,upstream_gene_variant,,ENST00000481513,;ADAM9,upstream_gene_variant,,ENST00000466936,;TM2D2,intron_variant,,ENST00000522434,;TM2D2,upstream_gene_variant,,ENST00000521060,;TM2D2,non_coding_transcript_exon_variant,,ENST00000519186,;ADAM9,upstream_gene_variant,,ENST00000379917,;ADAM9,upstream_gene_variant,,ENST00000481873,;ADAM9,upstream_gene_variant,,ENST00000468065,;TM2D2,upstream_gene_variant,,ENST00000524331,;	A	ENST00000456397	Transcript	missense_variant	312/3263	218/645	73/214	C/F	tGc/tTc		1		-1	TM2D2	HGNC	HGNC:24127	protein_coding	YES	CCDS6111.1	ENSP00000416050	Q9BX73		UPI000006FCA0	NM_078473.2	deleterious(0)		1/4		hmmpanther:PTHR21016,hmmpanther:PTHR21016:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	38996222	38996222	C	A	1	0	0	0	0	1	0	0	0	16409	710	25	2		2	TM2D2	8	38996222	Missense_Mutation	SNP	C	C3N-02089_TP	1298134	38996222	106142414	454	29251											
SLC20A2	0	.	GRCh38	chr8	42472107	42472107	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggctactcaccaaccAtggcactaacttccccagcc	12	6	7	16	0	1	1	1	0	0	1	2	2	2	1	5	2	4	2	5	2	4	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.284T>G	p.Met95Arg	p.M95R	ENST00000342228	2/11	128	110	18	126	125	1	strelka-varscan	SLC20A2,missense_variant,p.Met95Arg,ENST00000342228,NM_006749.4;SLC20A2,missense_variant,p.Met95Arg,ENST00000520262,NM_001257180.1;SLC20A2,missense_variant,p.Met95Arg,ENST00000520179,NM_001257181.1;SLC20A2,downstream_gene_variant,,ENST00000522707,;SLC20A2,downstream_gene_variant,,ENST00000518717,;SLC20A2,downstream_gene_variant,,ENST00000518384,;SLC20A2,downstream_gene_variant,,ENST00000517366,;SLC20A2,downstream_gene_variant,,ENST00000524237,;SLC20A2,missense_variant,p.Met95Arg,ENST00000524211,;	C	ENST00000342228	Transcript	missense_variant	654/3657	284/1959	95/652	M/R	aTg/aGg		1		-1	SLC20A2	HGNC	HGNC:10947	protein_coding	YES	CCDS6132.1	ENSP00000340465	Q08357		UPI000006DC58	NM_006749.4	deleterious(0)		2/11		hmmpanther:PTHR11101,hmmpanther:PTHR11101:SF15,Pfam_domain:PF01384																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	42472107	42472107	A	C	1	0	0	0	0	1	0	0	0	14705	231	8	5		5	SLC20A2	8	42472107	Missense_Mutation	SNP	A	C3N-02089_TP	3475885	42472107	102666529	455	29252											
PRKDC	0	.	GRCh38	chr8	47912484	47912484	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtacatgggtggggctcCctgtcccccttctggcatct	3	12	12	14	0	2	0	0	0	2	0	4	0	4	0	3	5	1	3	3	5	1	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2860G>T	p.Gly954Ter	p.G954*	ENST00000314191	25/86	126	81	45	97	97	0	strelka-varscan-mutect	PRKDC,stop_gained,p.Gly954Ter,ENST00000314191,NM_006904.6;PRKDC,stop_gained,p.Gly954Ter,ENST00000338368,NM_001081640.1;	A	ENST00000314191	Transcript	stop_gained	2917/13509	2860/12387	954/4128	G/*	Gga/Tga		1		-1	PRKDC	HGNC	HGNC:9413	protein_coding	YES	CCDS75735.1	ENSP00000313420	P78527		UPI0000013593	NM_006904.6			25/86		hmmpanther:PTHR11139:SF68,hmmpanther:PTHR11139,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	90	47912484	47912484	C	A	1	0	0	0	0	0	1	0	0	12654	632	22	2		2	PRKDC	8	47912484	Nonsense_Mutation	SNP	C	C3N-02089_TP	5440377	47912484	97226152	456	29253											
PXDNL	0	.	GRCh38	chr8	51453677	51453677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctccaatccattgtccctgGtccaagtgataagagggtgt	9	11	11	10	0	0	2	0	1	0	1	4	2	4	2	4	2	0	1	4	2	3	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1091C>A	p.Thr364Asn	p.T364N	ENST00000356297	10/23	555	481	74	404	404	0	strelka-varscan-mutect	PXDNL,missense_variant,p.Thr364Asn,ENST00000356297,NM_144651.4;	T	ENST00000356297	Transcript	missense_variant	1192/4805	1091/4392	364/1463	T/N	aCc/aAc		1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4	tolerated(0.07)		10/23		PROSITE_profiles:PS50835,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs765536774	.												T	3	4	90	51453677	51453677	G	T	1	0	0	0	0	1	0	0	0	13002	1261	44	2		2	PXDNL	8	51453677	Missense_Mutation	SNP	G	C3N-02089_TP	3541193	51453677	93684959	457	29254											
ST18	0	.	GRCh38	chr8	52161438	52161438	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagggcgtttaccgaaaaCttgggcatcaaaactggcat	13	8	12	8	2	1	1	1	0	0	1	1	3	1	1	1	3	3	3	1	3	5	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1531G>C	p.Val511Leu	p.V511L	ENST00000276480	14/26	226	205	21	185	185	0	strelka-mutect	ST18,missense_variant,p.Val511Leu,ENST00000276480,NM_014682.2;ST18,missense_variant,p.Val511Leu,ENST00000517580,;ST18,3_prime_UTR_variant,,ENST00000522251,;ST18,3_prime_UTR_variant,,ENST00000521582,;ST18,3_prime_UTR_variant,,ENST00000521824,;	G	ENST00000276480	Transcript	missense_variant	2215/6187	1531/3144	511/1047	V/L	Gtt/Ctt		1		-1	ST18	HGNC	HGNC:18695	protein_coding	YES	CCDS6149.1	ENSP00000276480	O60284		UPI0000046C30	NM_014682.2	deleterious(0.01)		14/26		hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816,Pfam_domain:PF08474																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	52161438	52161438	C	G	1	0	0	0	0	1	0	0	0	15590	565	20	4		4	ST18	8	52161438	Missense_Mutation	SNP	C	C3N-02089_TP	707761	52161438	92977198	458	29255											
RB1CC1	0	.	GRCh38	chr8	52656471	52656471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttagctctgctaagcccaCctgataattttcattattat	10	17	4	10	0	3	1	1	1	2	0	3	1	3	1	2	0	3	2	2	0	5	7	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.3358G>T	p.Val1120Leu	p.V1120L	ENST00000025008	15/24	144	106	38	141	141	0	strelka-varscan-mutect	RB1CC1,missense_variant,p.Val1120Leu,ENST00000025008,NM_014781.4;RB1CC1,missense_variant,p.Val1120Leu,ENST00000435644,NM_001083617.1;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,downstream_gene_variant,,ENST00000523594,;	A	ENST00000025008	Transcript	missense_variant	3882/6635	3358/4785	1120/1594	V/L	Gtg/Ttg		1		-1	RB1CC1	HGNC	HGNC:15574	protein_coding	YES	CCDS34892.1	ENSP00000025008	Q8TDY2		UPI0000DBEF23	NM_014781.4	tolerated_low_confidence(0.06)		15/24		hmmpanther:PTHR13222,hmmpanther:PTHR13222:SF1																	MODERATE	1	SNV	1			1										PASS		rs1390261760	.												A	3	1	90	52656471	52656471	C	A	1	0	0	0	0	1	0	0	0	13260	507	18	2		2	RB1CC1	8	52656471	Missense_Mutation	SNP	C	C3N-02089_TP	495033	52656471	92482165	459	29256											
RP1	0	.	GRCh38	chr8	54627810	54627810	+	Frame_Shift_Del	DEL	T	T	-																															gttcacttactgatactgtgTtttctgataaggcttgtgct																								novel		C3N-02089_TP	C3N-02089_NB	T	T																c.3931delT	p.Ser1311LeufsTer35	p.S1311Lfs*35	ENST00000220676	4/4	626	544	82	601	601	0	sindel-varindel-pindel	RP1,frameshift_variant,p.Ser1311LeufsTer35,ENST00000220676,NM_006269.1;RP1,intron_variant,,ENST00000637698,;RP1,intron_variant,,ENST00000636932,;	-	ENST00000220676	Transcript	frameshift_variant	4076/7100	3928/6471	1310/2156	F/X	Ttt/tt		1		1	RP1	HGNC	HGNC:10263	protein_coding	YES	CCDS6160.1	ENSP00000220676	P56715		UPI000013455B	NM_006269.1			4/4		hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF4																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	90	54627810	54627810	T	-	1	0	1	0	1	0	0	0	0	13709	1725	60	0		0	RP1	8	54627810	Frame_Shift_Del	DEL	T	C3N-02089_TP	1971339	54627810	90510826	460	29257											
XKR4	0	.	GRCh38	chr8	55523425	55523425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggcacttcttcaccatcgCcgccagggtcatcacgtttg	6	11	9	15	3	4	0	3	0	1	0	5	0	4	0	3	2	0	2	3	2	0	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1151C>T	p.Ala384Val	p.A384V	ENST00000327381	3/3	273	188	85	177	177	0	strelka-varscan-mutect	XKR4,missense_variant,p.Ala384Val,ENST00000327381,NM_052898.1;XKR4,missense_variant,p.Ala384Val,ENST00000622811,;RP11-628E19.2,upstream_gene_variant,,ENST00000522918,;XKR4,upstream_gene_variant,,ENST00000518261,;	T	ENST00000327381	Transcript	missense_variant	1251/19880	1151/1953	384/650	A/V	gCc/gTc		1		1	XKR4	HGNC	HGNC:29394	protein_coding	YES	CCDS34893.1	ENSP00000328326	Q5GH76		UPI000016098C	NM_052898.1	tolerated(0.06)		3/3		Transmembrane_helices:TMhelix,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF14,Pfam_domain:PF09815																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	55523425	55523425	C	T	1	0	0	0	0	1	0	0	0	17992	739	26	3		3	XKR4	8	55523425	Missense_Mutation	SNP	C	C3N-02089_TP	895615	55523425	89615211	461	29258											
TOX	0	.	GRCh38	chr8	58851541	58851541	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttagaggtatcatcgcCttcatcttcatgcactgaac	10	13	6	12	1	4	2	3	1	1	1	5	2	4	2	2	1	3	2	2	1	4	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.676G>C	p.Gly226Arg	p.G226R	ENST00000361421	4/9	165	109	56	129	129	0	strelka-varscan-mutect	TOX,missense_variant,p.Gly226Arg,ENST00000361421,NM_014729.2;	G	ENST00000361421	Transcript	missense_variant	897/4131	676/1581	226/526	G/R	Ggc/Cgc		1		-1	TOX	HGNC	HGNC:18988	protein_coding	YES	CCDS34897.1	ENSP00000354842	O94900		UPI0000070A73	NM_014729.2	tolerated(0.2)		4/9		hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF155																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	58851541	58851541	C	G	1	0	0	0	0	1	0	0	0	16855	681	24	4		4	TOX	8	58851541	Missense_Mutation	SNP	C	C3N-02089_TP	3328116	58851541	86287095	462	29259											
TTPA	0	.	GRCh38	chr8	63066026	63066026	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtttctacctcctgtaCaataagctcggatgtgatta	10	14	8	9	1	1	2	0	2	1	0	3	3	2	3	2	1	3	3	2	1	5	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.430G>T	p.Val144Leu	p.V144L	ENST00000260116	3/5	360	331	29	271	270	1	strelka-varscan-mutect	TTPA,missense_variant,p.Val144Leu,ENST00000260116,NM_000370.3;TTPA,intron_variant,,ENST00000521138,;	A	ENST00000260116	Transcript	missense_variant	462/2338	430/837	144/278	V/L	Gta/Tta		1		-1	TTPA	HGNC	HGNC:12404	protein_coding	YES	CCDS6178.1	ENSP00000260116	P49638		UPI00001377AC	NM_000370.3	tolerated(0.18)		3/5		PROSITE_profiles:PS50191,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF52,Gene3D:3.40.525.10,Pfam_domain:PF00650,SMART_domains:SM00516,Superfamily_domains:SSF52087																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	63066026	63066026	C	A	1	0	0	0	0	1	0	0	0	17246	478	17	2		2	TTPA	8	63066026	Missense_Mutation	SNP	C	C3N-02089_TP	4214485	63066026	82072610	463	29260											
ADHFE1	0	.	GRCh38	chr8	66454127	66454127	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagtgcttttgctggcaTcggctttggaaatgctggtg	6	13	15	7	1	0	0	0	0	0	0	1	1	0	1	0	5	3	6	0	5	2	3	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.956T>G	p.Ile319Ser	p.I319S	ENST00000396623	10/14	340	310	30	239	239	0	strelka-varscan-mutect	ADHFE1,missense_variant,p.Ile319Ser,ENST00000396623,NM_144650.2;ADHFE1,missense_variant,p.Ile271Ser,ENST00000415254,;ADHFE1,non_coding_transcript_exon_variant,,ENST00000496501,;ADHFE1,non_coding_transcript_exon_variant,,ENST00000480040,;ADHFE1,3_prime_UTR_variant,,ENST00000424777,;ADHFE1,3_prime_UTR_variant,,ENST00000426810,;ADHFE1,3_prime_UTR_variant,,ENST00000419955,;ADHFE1,3_prime_UTR_variant,,ENST00000276576,;ADHFE1,downstream_gene_variant,,ENST00000396621,;ADHFE1,downstream_gene_variant,,ENST00000422166,;ADHFE1,downstream_gene_variant,,ENST00000443372,;	G	ENST00000396623	Transcript	missense_variant	987/1990	956/1404	319/467	I/S	aTc/aGc		1		1	ADHFE1	HGNC	HGNC:16354	protein_coding	YES	CCDS6190.2	ENSP00000379865	Q8IWW8		UPI000004966C	NM_144650.2	deleterious(0.03)		10/14		Gene3D:1.20.1090.10,Pfam_domain:PF00465,hmmpanther:PTHR11496,hmmpanther:PTHR11496:SF62,Superfamily_domains:SSF56796																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	66454127	66454127	T	G	1	0	0	0	0	1	0	0	0	387	1435	50	5		5	ADHFE1	8	66454127	Missense_Mutation	SNP	T	C3N-02089_TP	3388101	66454127	78684509	464	29261											
EYA1	0	.	GRCh38	chr8	71299215	71299215	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactgaccctggccaaaacTgggataagacggatagtcct	12	8	11	10	1	0	2	0	1	0	1	1	4	1	4	3	3	2	1	3	3	5	3	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.658A>T	p.Ser220Cys	p.S220C	ENST00000340726	9/18	551	483	68	421	421	0	strelka-varscan-mutect	EYA1,missense_variant,p.Ser220Cys,ENST00000340726,NM_000503.5;EYA1,missense_variant,p.Ser214Cys,ENST00000303824,NM_001288575.1,NM_001288574.1;EYA1,missense_variant,p.Ser220Cys,ENST00000388742,NM_172058.3;EYA1,missense_variant,p.Ser187Cys,ENST00000388740,NM_172060.3;EYA1,missense_variant,p.Ser186Cys,ENST00000388741,;EYA1,missense_variant,p.Ser219Cys,ENST00000388743,;EYA1,missense_variant,p.Ser215Cys,ENST00000419131,NM_172059.3;EYA1,synonymous_variant,p.=,ENST00000465115,;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;EYA1,upstream_gene_variant,,ENST00000493349,;	A	ENST00000340726	Transcript	missense_variant	1298/4326	658/1779	220/592	S/C	Agt/Tgt		1		-1	EYA1	HGNC	HGNC:3519	protein_coding	YES	CCDS34906.1	ENSP00000342626	Q99502	A0A024R813	UPI000012A3B3	NM_000503.5	tolerated(0.05)		9/18		hmmpanther:PTHR10190,hmmpanther:PTHR10190:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	71299215	71299215	T	A	1	0	0	0	0	1	0	0	0	5196	1580	55	4		4	EYA1	8	71299215	Missense_Mutation	SNP	T	C3N-02089_TP	4845088	71299215	73839421	465	29262											
TRPA1	0	.	GRCh38	chr8	72056987	72056987	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaaatgcagaaaattacgtCcaaaattatcttttatgtct	15	16	4	6	1	2	1	0	0	2	1	3	1	3	1	1	0	2	1	1	0	9	5			C3N-02089_TP	C3N-02089_NB	C	C																c.1124G>T	p.Gly375Val	p.G375V	ENST00000262209	10/27	225	174	51	190	189	1	strelka-varscan-mutect	TRPA1,missense_variant,p.Gly375Val,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Gly227Val,ENST00000523582,;MSC-AS1,intron_variant,,ENST00000518916,;MSC-AS1,intron_variant,,ENST00000519068,;MSC-AS1,downstream_gene_variant,,ENST00000457356,;MSC-AS1,downstream_gene_variant,,ENST00000522519,;MSC-AS1,downstream_gene_variant,,ENST00000512290,;MSC-AS1,downstream_gene_variant,,ENST00000519751,;MSC-AS1,downstream_gene_variant,,ENST00000524152,;TRPA1,upstream_gene_variant,,ENST00000520788,;	A	ENST00000262209	Transcript	missense_variant	1332/5223	1124/3360	375/1119	G/V	gGa/gTa	COSM5699970,COSM5699971	1		-1	TRPA1	HGNC	HGNC:497	protein_coding	YES	CCDS34908.1	ENSP00000262209	O75762		UPI000021081A	NM_007332.2	deleterious(0)		10/27		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF6,Superfamily_domains:SSF48403											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	90	72056987	72056987	C	A	1	0	0	0	0	1	0	0	0	17082	855	30	2		2	TRPA1	8	72056987	Missense_Mutation	SNP	C	C3N-02089_TP	757772	72056987	73081649	466	29263											
TERF1	0	.	GRCh38	chr8	73008907	73008907	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcggaggatgtttcctcAgcggccccgagcccgcgggg	5	6	17	13	5	1	0	1	0	0	0	2	3	2	2	4	6	2	1	4	6	0	1	rs768791939		C3N-02089_TP	C3N-02089_NB	A	A																c.21A>T	p.=	p.S7S	ENST00000276603	1/10	205	181	24	126	126	0	strelka-varscan-mutect	TERF1,synonymous_variant,p.=,ENST00000276602,NM_003218.3;TERF1,synonymous_variant,p.=,ENST00000276603,NM_017489.2;TERF1,synonymous_variant,p.=,ENST00000518874,;TERF1,upstream_gene_variant,,ENST00000517390,;TERF1,upstream_gene_variant,,ENST00000518695,;	T	ENST00000276603	Transcript	synonymous_variant	44/1677	21/1320	7/439	S	tcA/tcT	rs768791939	1		1	TERF1	HGNC	HGNC:11728	protein_coding	YES	CCDS6211.1	ENSP00000276603	P54274		UPI000013DAD5	NM_017489.2			1/10		PIRSF_domain:PIRSF038016																	LOW	1	SNV	1			1										PASS		rs768791939	.												T	2	4	90	73008907	73008907	A	T	1	0	0	0	0	0	0	0	1	16180	175	7	4		4	TERF1	8	73008907	Silent	SNP	A	C3N-02089_TP	951920	73008907	72129729	467	29264											
ZFHX4	0	.	GRCh38	chr8	76706431	76706431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaccaatgtcgccaggaaCctccgaattcatatgaccag	14	7	8	12	2	1	1	1	1	0	0	3	4	2	2	5	1	2	0	5	1	5	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2343C>A	p.Asn781Lys	p.N781K	ENST00000521891	2/11	261	179	82	202	202	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Asn781Lys,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Asn781Lys,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000520307,;ZFHX4,downstream_gene_variant,,ENST00000517585,;ZFHX4,downstream_gene_variant,,ENST00000523809,;ZFHX4,downstream_gene_variant,,ENST00000523885,;ZFHX4,intron_variant,,ENST00000517683,;ZFHX4,non_coding_transcript_exon_variant,,ENST00000458716,;	A	ENST00000521891	Transcript	missense_variant	2791/14019	2343/10851	781/3616	N/K	aaC/aaA		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0)		2/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	76706431	76706431	C	A	1	0	0	0	0	1	0	0	0	18213	506	18	2		2	ZFHX4	8	76706431	Missense_Mutation	SNP	C	C3N-02089_TP	3697524	76706431	68432205	468	29265											
PEX2	0	.	GRCh38	chr8	76983845	76983845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctaaccacctgccacCaattgtacaaacagcatacc	13	10	3	15	0	2	0	0	0	2	0	2	0	2	0	5	0	6	2	5	0	5	6	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.334G>T	p.Gly112Cys	p.G112C	ENST00000357039	4/4	432	399	33	394	394	0	strelka-varscan-mutect	PEX2,missense_variant,p.Gly112Cys,ENST00000357039,NM_000318.2,NM_001172086.1;PEX2,missense_variant,p.Gly112Cys,ENST00000522527,NM_001079867.1;PEX2,missense_variant,p.Gly112Cys,ENST00000520103,NM_001172087.1;PEX2,missense_variant,p.Gly112Cys,ENST00000518986,;PEX2,downstream_gene_variant,,ENST00000519956,;PEX2,downstream_gene_variant,,ENST00000520203,;	A	ENST00000357039	Transcript	missense_variant	730/4317	334/918	112/305	G/C	Ggt/Tgt		1		-1	PEX2	HGNC	HGNC:9717	protein_coding	YES	CCDS6221.1	ENSP00000349543	P28328		UPI000013E3FB	NM_000318.2,NM_001172086.1	deleterious(0)		4/4		PD124462,Pfam_domain:PF04757																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	76983845	76983845	C	A	1	0	0	0	0	1	0	0	0	11835	594	21	2		2	PEX2	8	76983845	Missense_Mutation	SNP	C	C3N-02089_TP	277414	76983845	68154791	469	29266											
PSKH2	0	.	GRCh38	chr8	86064476	86064476	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtaacgatggctaaccCgccgcaggacgctcagctca	11	6	10	14	4	2	0	2	0	0	0	2	2	2	1	2	2	3	5	2	2	3	2	rs35915498		C3N-02089_TP	C3N-02089_NB	C	C																c.341G>T	p.Arg114Leu	p.R114L	ENST00000276616	2/3	575	361	214	416	415	1	strelka-varscan-mutect	PSKH2,missense_variant,p.Arg114Leu,ENST00000276616,NM_033126.1;ATP6V0D2,intron_variant,,ENST00000521564,;PSKH2,non_coding_transcript_exon_variant,,ENST00000517981,;PSKH2,non_coding_transcript_exon_variant,,ENST00000523010,;	A	ENST00000276616	Transcript	missense_variant	416/1322	341/1158	114/385	R/L	cGg/cTg	rs35915498	1		-1	PSKH2	HGNC	HGNC:18997	protein_coding	YES	CCDS6240.1	ENSP00000276616	Q96QS6		UPI000006F951	NM_033126.1	deleterious(0)		2/3		PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF255,Pfam_domain:PF00069,Gene3D:3.30.200.20,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs35915498	.												A	3	1	90	86064476	86064476	C	A	1	0	0	0	0	1	0	0	0	12816	652	23	1		1	PSKH2	8	86064476	Missense_Mutation	SNP	C	C3N-02089_TP	9080631	86064476	59074160	470	29267											
CNGB3	0	.	GRCh38	chr8	86628966	86628966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcataccaagtccgaactCgcttttgcacaagtttagga	12	12	7	10	2	1	0	1	0	0	0	3	2	2	1	2	1	3	3	2	1	5	6	rs772270787		C3N-02089_TP	C3N-02089_NB	C	C																c.1433G>T	p.Arg478Leu	p.R478L	ENST00000320005	12/18	505	385	120	387	385	2	strelka-varscan-mutect	CNGB3,missense_variant,p.Arg478Leu,ENST00000320005,NM_019098.4;	A	ENST00000320005	Transcript	missense_variant	1481/4347	1433/2430	478/809	R/L	cGa/cTa	rs772270787,COSM3651524	1		-1	CNGB3	HGNC	HGNC:2153	protein_coding	YES	CCDS6244.1	ENSP00000316605	Q9NQW8		UPI000014076F	NM_019098.4	deleterious(0)		12/18		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF385,Gene3D:3bpzA01,Superfamily_domains:SSF51206											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs772270787	.												A	3	1	90	86628966	86628966	C	A	1	0	0	0	0	1	0	0	0	3381	884	31	1		1	CNGB3	8	86628966	Missense_Mutation	SNP	C	C3N-02089_TP	564490	86628966	58509670	471	29268											
CNGB3	0	.	GRCh38	chr8	86667085	86667085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtataaaacagcagttcCagttataggcaagagtgaca	15	9	11	6	0	0	2	0	1	0	1	1	2	1	2	1	2	2	5	1	2	6	5	rs754946422		C3N-02089_TP	C3N-02089_NB	C	C																c.692G>T	p.Trp231Leu	p.W231L	ENST00000320005	6/18	392	296	96	302	301	1	strelka-varscan-mutect	CNGB3,missense_variant,p.Trp231Leu,ENST00000320005,NM_019098.4;	A	ENST00000320005	Transcript	missense_variant	740/4347	692/2430	231/809	W/L	tGg/tTg	rs754946422,COSM343786	1		-1	CNGB3	HGNC	HGNC:2153	protein_coding	YES	CCDS6244.1	ENSP00000316605	Q9NQW8		UPI000014076F	NM_019098.4	deleterious(0)		6/18		Transmembrane_helices:TMhelix,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF385,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs754946422	.												A	3	1	90	86667085	86667085	C	A	1	0	0	0	0	1	0	0	0	3381	595	21	2		2	CNGB3	8	86667085	Missense_Mutation	SNP	C	C3N-02089_TP	38119	86667085	58471551	472	29269											
MMP16	0	.	GRCh38	chr8	88041770	88041770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgaatttccaatactcCtttcctttgtagaaatacgt	10	18	5	8	1	0	2	0	1	0	1	3	2	3	2	3	0	2	2	3	0	6	8	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1515G>T	p.Lys505Asn	p.K505N	ENST00000286614	10/10	98	82	16	94	94	0	strelka-varscan-mutect	MMP16,missense_variant,p.Lys505Asn,ENST00000286614,NM_005941.4;	A	ENST00000286614	Transcript	missense_variant	1797/11558	1515/1824	505/607	K/N	aaG/aaT		1		-1	MMP16	HGNC	HGNC:7162	protein_coding	YES	CCDS6246.1	ENSP00000286614	P51512		UPI000003DC73	NM_005941.4	tolerated(0.89)		10/10		PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF26,Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,Pfam_domain:PF00045,SMART_domains:SM00120,Superfamily_domains:SSF50923																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	88041770	88041770	C	A	1	0	0	0	0	1	0	0	0	9618	680	24	2		2	MMP16	8	88041770	Missense_Mutation	SNP	C	C3N-02089_TP	1374685	88041770	57096866	473	29270											
DPY19L4	0	.	GRCh38	chr8	94739660	94739660	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataggagattattgagccaGtgtatttctatattggcatt	11	16	9	5	0	1	2	0	1	1	1	1	3	1	2	1	2	1	2	1	2	5	9	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.481G>C	p.Val161Leu	p.V161L	ENST00000414645	6/19	144	97	47	107	107	0	strelka-varscan-mutect	DPY19L4,missense_variant,p.Val161Leu,ENST00000414645,NM_181787.2;DPY19L4,missense_variant,p.Val132Leu,ENST00000519176,;DPY19L4,missense_variant,p.Val5Leu,ENST00000523020,;DPY19L4,missense_variant,p.Val11Leu,ENST00000521525,;DPY19L4,missense_variant,p.Val89Leu,ENST00000522422,;DPY19L4,missense_variant,p.Val93Leu,ENST00000519353,;DPY19L4,3_prime_UTR_variant,,ENST00000520774,;	C	ENST00000414645	Transcript	missense_variant	580/6197	481/2172	161/723	V/L	Gtg/Ctg		1		1	DPY19L4	HGNC	HGNC:27829	protein_coding	YES	CCDS34924.1	ENSP00000389630	Q7Z388	A0A024R9F2	UPI00001A9D7A	NM_181787.2	deleterious(0.01)		6/19		Transmembrane_helices:TMhelix,hmmpanther:PTHR31488:SF2,hmmpanther:PTHR31488,Pfam_domain:PF10034																	MODERATE	1	SNV	1			1										PASS		rs1037399939	.												C	3	2	90	94739660	94739660	G	C	1	0	0	0	0	1	0	0	0	4558	1029	36	4		4	DPY19L4	8	94739660	Missense_Mutation	SNP	G	C3N-02089_TP	6697890	94739660	50398976	474	29271											
DPY19L4	0	.	GRCh38	chr8	94765272	94765272	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttgttggtatctcctttAttaagtttagtagcagcctt	7	19	8	7	0	1	0	0	0	1	0	2	0	1	0	2	1	2	6	2	1	5	10	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.960A>C	p.Leu320Phe	p.L320F	ENST00000414645	9/19	164	151	13	164	164	0	strelka-varscan-mutect	DPY19L4,missense_variant,p.Leu320Phe,ENST00000414645,NM_181787.2;DPY19L4,intron_variant,,ENST00000523020,;	C	ENST00000414645	Transcript	missense_variant	1059/6197	960/2172	320/723	L/F	ttA/ttC		1		1	DPY19L4	HGNC	HGNC:27829	protein_coding	YES	CCDS34924.1	ENSP00000389630	Q7Z388	A0A024R9F2	UPI00001A9D7A	NM_181787.2	deleterious(0.02)		9/19		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR31488:SF2,hmmpanther:PTHR31488,Pfam_domain:PF10034																	MODERATE	1	SNV	1			1										PASS		rs1255253360	.												C	3	2	90	94765272	94765272	A	C	1	0	0	0	0	1	0	0	0	4558	446	16	5		5	DPY19L4	8	94765272	Missense_Mutation	SNP	A	C3N-02089_TP	25612	94765272	50373364	475	29272											
INTS8	0	.	GRCh38	chr8	94856975	94856975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctatctggaaatgaggcttCctggtaagactggttcacaa	11	11	11	8	0	2	2	1	1	1	1	3	3	3	3	1	4	0	4	1	4	4	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1951C>T	p.Pro651Ser	p.P651S	ENST00000523731	15/27	173	162	11	125	125	0	strelka-varscan-mutect	INTS8,missense_variant,p.Pro651Ser,ENST00000523731,NM_017864.3;INTS8,missense_variant,p.Pro473Ser,ENST00000520526,;INTS8,non_coding_transcript_exon_variant,,ENST00000520845,;INTS8,missense_variant,p.Pro651Ser,ENST00000343161,;INTS8,missense_variant,p.Pro5Ser,ENST00000520315,;INTS8,3_prime_UTR_variant,,ENST00000523206,;INTS8,3_prime_UTR_variant,,ENST00000524333,;INTS8,non_coding_transcript_exon_variant,,ENST00000523321,;	T	ENST00000523731	Transcript	missense_variant	2084/4633	1951/2988	651/995	P/S	Cct/Tct		1		1	INTS8	HGNC	HGNC:26048	protein_coding	YES	CCDS34925.1	ENSP00000430338	Q75QN2		UPI000023B7D0	NM_017864.3	tolerated(0.49)		15/27		hmmpanther:PTHR13350																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	94856975	94856975	C	T	1	0	0	0	0	1	0	0	0	7687	869	30	3		3	INTS8	8	94856975	Missense_Mutation	SNP	C	C3N-02089_TP	91703	94856975	50281661	476	29273											
PTDSS1	0	.	GRCh38	chr8	96299754	96299754	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtgggatcaagtcattctgGacatcctgttgtgcaatggc	8	12	13	8	0	3	0	2	0	1	0	4	2	4	2	1	4	1	2	1	4	2	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.661G>C	p.Asp221His	p.D221H	ENST00000517309	6/13	285	245	40	220	220	0	strelka-varscan-mutect	PTDSS1,missense_variant,p.Asp221His,ENST00000517309,NM_014754.2;PTDSS1,missense_variant,p.Asp18His,ENST00000522072,;PTDSS1,non_coding_transcript_exon_variant,,ENST00000518776,;PTDSS1,3_prime_UTR_variant,,ENST00000337004,NM_001290225.1;	C	ENST00000517309	Transcript	missense_variant	987/5177	661/1422	221/473	D/H	Gac/Cac		1		1	PTDSS1	HGNC	HGNC:9587	protein_coding	YES	CCDS6271.1	ENSP00000430548	P48651		UPI0000132810	NM_014754.2	deleterious(0)		6/13		Transmembrane_helices:TMhelix,hmmpanther:PTHR15362,hmmpanther:PTHR15362:SF8,Pfam_domain:PF03034																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	96299754	96299754	G	C	1	0	0	0	0	1	0	0	0	12889	1174	41	4		4	PTDSS1	8	96299754	Missense_Mutation	SNP	G	C3N-02089_TP	1442779	96299754	48838882	477	29274											
OSR2	0	.	GRCh38	chr8	98948992	98948992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgcccatcccgctccacCcgtcgctgcagctcaccaat	7	6	7	21	4	1	0	1	0	0	0	4	0	3	0	5	0	3	4	5	0	1	0	rs756940497		C3N-02089_TP	C3N-02089_NB	C	C																c.403C>T	p.Pro135Ser	p.P135S	ENST00000457907	3/5	362	301	61	227	226	1	strelka-varscan-mutect	OSR2,missense_variant,p.Pro135Ser,ENST00000457907,NM_001286841.1;OSR2,missense_variant,p.Pro14Ser,ENST00000297565,NM_001142462.2;OSR2,missense_variant,p.Pro14Ser,ENST00000435298,NM_053001.3;OSR2,missense_variant,p.Pro14Ser,ENST00000522510,;OSR2,missense_variant,p.Pro14Ser,ENST00000523368,;OSR2,missense_variant,p.Pro14Ser,ENST00000518199,;OSR2,missense_variant,p.Pro67Ser,ENST00000520951,;RP11-44N12.5,downstream_gene_variant,,ENST00000606778,;OSR2,intron_variant,,ENST00000521044,;OSR2,intron_variant,,ENST00000520722,;OSR2,downstream_gene_variant,,ENST00000520791,;	T	ENST00000457907	Transcript	missense_variant	824/2126	403/1302	135/433	P/S	Ccg/Tcg	rs756940497	1		1	OSR2	HGNC	HGNC:15830	protein_coding	YES	CCDS69520.1	ENSP00000414657	Q8N2R0		UPI00017A85FA	NM_001286841.1	deleterious_low_confidence(0)		3/5		hmmpanther:PTHR14196:SF4,hmmpanther:PTHR14196																	MODERATE	1	SNV	2			1										PASS		rs756940497	.												T	3	4	90	98948992	98948992	C	T	1	0	0	0	0	1	0	0	0	11361	623	22	3		3	OSR2	8	98948992	Missense_Mutation	SNP	C	C3N-02089_TP	2649238	98948992	46189644	478	29275											
ATP6V1C1	0	.	GRCh38	chr8	103042376	103042376	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggttggcttgtcagatGaactggctaaactggatgca	9	13	12	7	0	2	2	1	1	1	1	2	3	2	3	0	4	3	4	0	4	3	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.169G>T	p.Glu57Ter	p.E57*	ENST00000395862	3/13	281	253	28	219	219	0	strelka-varscan-mutect	ATP6V1C1,stop_gained,p.Glu57Ter,ENST00000395862,NM_001695.4;ATP6V1C1,stop_gained,p.Glu57Ter,ENST00000518738,;ATP6V1C1,5_prime_UTR_variant,,ENST00000521514,;ATP6V1C1,intron_variant,,ENST00000518857,;	T	ENST00000395862	Transcript	stop_gained	328/5612	169/1149	57/382	E/*	Gaa/Taa		1		1	ATP6V1C1	HGNC	HGNC:856	protein_coding	YES	CCDS6296.1	ENSP00000379203	P21283	A0A024R9I0	UPI0000049C2A	NM_001695.4			3/13		hmmpanther:PTHR10137:SF5,hmmpanther:PTHR10137,Pfam_domain:PF03223,Gene3D:1u7lA02,Superfamily_domains:0049812																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	90	103042376	103042376	G	T	1	0	0	0	0	0	1	0	0	1333	1291	45	2		2	ATP6V1C1	8	103042376	Nonsense_Mutation	SNP	G	C3N-02089_TP	4093384	103042376	42096260	479	29276											
RIMS2	0	.	GRCh38	chr8	103936633	103936633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcatttattctccagtcCaccgaagagaatttcgggaa	12	12	7	10	2	2	1	1	0	1	1	5	4	3	2	3	1	0	0	3	1	4	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2458C>A	p.His820Asn	p.H820N	ENST00000504942	13/24	153	139	14	141	140	1	strelka-varscan-mutect	RIMS2,missense_variant,p.His612Asn,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.His598Asn,ENST00000436393,;RIMS2,missense_variant,p.His820Asn,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.His762Asn,ENST00000626043,;RIMS2,missense_variant,p.His612Asn,ENST00000408894,;RIMS2,missense_variant,p.His659Asn,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.His808Asn,ENST00000632716,;RIMS2,missense_variant,p.His214Asn,ENST00000507677,;RIMS2,missense_variant,p.His612Asn,ENST00000515551,;	A	ENST00000504942	Transcript	missense_variant	2597/4228	2458/4050	820/1349	H/N	Cac/Aac		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0)		13/24		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	90	103936633	103936633	C	A	1	0	0	0	0	1	0	0	0	13543	594	21	2		2	RIMS2	8	103936633	Missense_Mutation	SNP	C	C3N-02089_TP	894257	103936633	41202003	480	29277											
ZFPM2	0	.	GRCh38	chr8	105803184	105803184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaagattctctgccattGttgcccaaaaatcgaggaat	15	10	8	8	1	1	2	0	0	1	2	3	4	1	3	2	1	2	1	2	1	5	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.3102G>T	p.Leu1034Phe	p.L1034F	ENST00000407775	8/8	139	117	22	119	118	1	strelka-varscan-mutect	ZFPM2,missense_variant,p.Leu1034Phe,ENST00000407775,NM_012082.3;ZFPM2,missense_variant,p.Leu902Phe,ENST00000520492,;ZFPM2,missense_variant,p.Leu902Phe,ENST00000517361,;ZFPM2-AS1,intron_variant,,ENST00000524045,;ZFPM2-AS1,intron_variant,,ENST00000520433,;ZFPM2-AS1,intron_variant,,ENST00000518932,;ZFPM2-AS1,intron_variant,,ENST00000520594,;ZFPM2-AS1,intron_variant,,ENST00000509144,;ZFPM2-AS1,intron_variant,,ENST00000521622,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;ZFPM2-AS1,intron_variant,,ENST00000520078,;	T	ENST00000407775	Transcript	missense_variant	3352/4700	3102/3456	1034/1151	L/F	ttG/ttT		1		1	ZFPM2	HGNC	HGNC:16700	protein_coding	YES	CCDS47908.1	ENSP00000384179	Q8WW38		UPI000057A0B4	NM_012082.3	deleterious_low_confidence(0.03)		8/8		hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	105803184	105803184	G	T	1	0	0	0	0	1	0	0	0	18236	1368	48	2		2	ZFPM2	8	105803184	Missense_Mutation	SNP	G	C3N-02089_TP	1866551	105803184	39335452	481	29278											
TRHR	0	.	GRCh38	chr8	109087935	109087935	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctctgcacattttccagAgccaaaaagattatcatctt	12	15	4	10	0	3	2	1	0	2	2	5	2	4	2	2	0	2	1	2	0	3	5	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.423A>G	p.=	p.R141R	ENST00000518632	2/3	600	487	113	478	478	0	strelka-varscan-mutect	TRHR,synonymous_variant,p.=,ENST00000518632,;TRHR,synonymous_variant,p.=,ENST00000311762,NM_003301.5;	G	ENST00000518632	Transcript	synonymous_variant	774/1660	423/1197	141/398	R	agA/agG		1		1	TRHR	HGNC	HGNC:12299	protein_coding	YES	CCDS6311.1	ENSP00000430711	P34981		UPI0000050437				2/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR00751,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF115,SMART_domains:SM01381,Superfamily_domains:SSF81321																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	90	109087935	109087935	A	G	1	0	0	0	0	0	0	0	1	16969	301	11	5		5	TRHR	8	109087935	Silent	SNP	A	C3N-02089_TP	3284751	109087935	36050701	482	29279											
CSMD3	0	.	GRCh38	chr8	112337728	112337728	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggacagctttgcaactgaTaggctggaaagaggaaaaag	16	6	13	6	0	0	2	0	1	0	1	0	5	0	5	0	4	3	3	0	4	5	2	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.6656A>T	p.Tyr2219Phe	p.Y2219F	ENST00000297405	43/71	115	84	31	100	100	0	varscan-mutect	CSMD3,missense_variant,p.Tyr2219Phe,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Tyr2179Phe,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Tyr2115Phe,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Tyr1489Phe,ENST00000339701,;CSMD3,upstream_gene_variant,,ENST00000492692,;	A	ENST00000297405	Transcript	missense_variant	6901/13212	6656/11124	2219/3707	Y/F	tAt/tTt		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0.02)		43/71		PROSITE_profiles:PS01180,SMART_domains:SM00042																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	112337728	112337728	T	A	1	0	0	0	0	1	0	0	0	3747	1420	49	4		4	CSMD3	8	112337728	Missense_Mutation	SNP	T	C3N-02089_TP	3249793	112337728	32800908	483	29280											
EIF3H	0	.	GRCh38	chr8	116658839	116658839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagaacgacagattcttcaAtggcatgctggtaactaaac	14	10	9	8	1	2	2	1	1	1	2	2	4	2	2	0	2	4	3	0	2	5	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.431T>C	p.Ile144Thr	p.I144T	ENST00000521861	3/8	235	185	50	170	169	1	strelka-varscan-mutect	EIF3H,missense_variant,p.Ile144Thr,ENST00000521861,NM_003756.2;EIF3H,missense_variant,p.Ile158Thr,ENST00000276682,;EIF3H,missense_variant,p.Ile141Thr,ENST00000611080,;EIF3H,missense_variant,p.Ile112Thr,ENST00000518949,;EIF3H,missense_variant,p.Ile160Thr,ENST00000518995,;EIF3H,missense_variant,p.Ile168Thr,ENST00000522453,;EIF3H,3_prime_UTR_variant,,ENST00000522800,;EIF3H,non_coding_transcript_exon_variant,,ENST00000518034,;EIF3H,non_coding_transcript_exon_variant,,ENST00000517974,;EIF3H,upstream_gene_variant,,ENST00000520289,;EIF3H,downstream_gene_variant,,ENST00000519046,;	G	ENST00000521861	Transcript	missense_variant	455/3959	431/1059	144/352	I/T	aTt/aCt		1		-1	EIF3H	HGNC	HGNC:3273	protein_coding	YES	CCDS6319.1	ENSP00000429931	O15372	Q6IB98	UPI00000477E8	NM_003756.2	deleterious(0)		3/8		HAMAP:MF_03007,hmmpanther:PTHR10410:SF3,hmmpanther:PTHR10410,Pfam_domain:PF01398,SMART_domains:SM00232																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	116658839	116658839	A	G	1	0	0	0	0	1	0	0	0	4852	101	4	5		5	EIF3H	8	116658839	Missense_Mutation	SNP	A	C3N-02089_TP	4321111	116658839	28479797	484	29281											
DEPTOR	0	.	GRCh38	chr8	120009038	120009038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctctctagattgttggtGacgcggttggctggggtttt	3	17	14	7	2	1	2	0	1	1	1	3	2	2	2	1	5	0	4	1	5	1	7	rs781608833		C3N-02089_TP	C3N-02089_NB	G	G																c.1006G>A	p.Asp336Asn	p.D336N	ENST00000286234	8/9	314	279	35	169	169	0	strelka-varscan-mutect	DEPTOR,missense_variant,p.Asp336Asn,ENST00000286234,NM_022783.3;DEPTOR,missense_variant,p.Asp235Asn,ENST00000523492,NM_001283012.1;DEPTOR,non_coding_transcript_exon_variant,,ENST00000518057,;	A	ENST00000286234	Transcript	missense_variant	1136/2569	1006/1230	336/409	D/N	Gac/Aac	rs781608833	1		1	DEPTOR	HGNC	HGNC:22953	protein_coding	YES	CCDS6331.1	ENSP00000286234	Q8TB45		UPI000013DE38	NM_022783.3	deleterious(0.01)		8/9		Gene3D:2.30.42.10,PROSITE_profiles:PS50106,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF18,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		rs781608833	.												A	3	1	90	120009038	120009038	G	A	1	0	0	0	0	1	0	0	0	4250	1290	45	3		3	DEPTOR	8	120009038	Missense_Mutation	SNP	G	C3N-02089_TP	3350199	120009038	25129598	485	29282											
COL14A1	0	.	GRCh38	chr8	120247696	120247696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgggaccccccatcttccCcggtgaaaggctatagaatt	9	9	10	13	2	1	2	0	1	1	1	2	3	2	3	5	3	0	1	5	3	4	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2563C>A	p.Pro855Thr	p.P855T	ENST00000297848	21/48	239	184	55	185	185	0	strelka-varscan-mutect	COL14A1,missense_variant,p.Pro855Thr,ENST00000297848,NM_021110.2;COL14A1,missense_variant,p.Pro855Thr,ENST00000309791,;COL14A1,missense_variant,p.Pro668Thr,ENST00000434620,;COL14A1,upstream_gene_variant,,ENST00000247781,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;	A	ENST00000297848	Transcript	missense_variant	2833/6466	2563/5391	855/1796	P/T	Ccg/Acg		1		1	COL14A1	HGNC	HGNC:2191	protein_coding	YES	CCDS34938.1	ENSP00000297848	Q05707		UPI000046D377	NM_021110.2	tolerated(0.05)		21/48		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	120247696	120247696	C	A	1	0	0	0	0	1	0	0	0	3459	623	22	2		2	COL14A1	8	120247696	Missense_Mutation	SNP	C	C3N-02089_TP	238658	120247696	24890940	486	29283											
MTBP	0	.	GRCh38	chr8	120445548	120445548	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtagggaggcagaacatggGccagaggtgtcgtcgggtga	10	6	19	6	2	0	3	0	1	0	2	2	4	0	4	1	5	1	2	1	5	2	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.78G>C	p.=	p.G26G	ENST00000305949	1/22	161	150	11	86	86	0	strelka-varscan-mutect	MTBP,synonymous_variant,p.=,ENST00000305949,NM_022045.4;MRPL13,upstream_gene_variant,,ENST00000306185,NM_014078.5;MRPL13,upstream_gene_variant,,ENST00000518918,;MTBP,synonymous_variant,p.=,ENST00000523373,;MTBP,non_coding_transcript_exon_variant,,ENST00000522308,;MTBP,non_coding_transcript_exon_variant,,ENST00000456899,;MRPL13,upstream_gene_variant,,ENST00000518696,;MRPL13,upstream_gene_variant,,ENST00000520677,;	C	ENST00000305949	Transcript	synonymous_variant	123/3059	78/2715	26/904	G	ggG/ggC		1		1	MTBP	HGNC	HGNC:7417	protein_coding	YES	CCDS6333.1	ENSP00000303398	Q96DY7		UPI00000703F0	NM_022045.4			1/22		Pfam_domain:PF14918,hmmpanther:PTHR14382,hmmpanther:PTHR14382:SF1																	LOW	1	SNV	1			1										PASS		rs1177853863	.												C	2	2	90	120445548	120445548	G	C	1	0	0	0	0	0	0	0	1	9897	1190	42	4		4	MTBP	8	120445548	Silent	SNP	G	C3N-02089_TP	197852	120445548	24693088	487	29284											
RNF139	0	.	GRCh38	chr8	124486466	124486466	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttatttcttgggatgatTtttgggacctcatttgcaat	7	20	8	6	0	3	1	1	1	2	0	3	3	3	3	1	2	1	1	1	2	2	7	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.817T>A	p.Phe273Ile	p.F273I	ENST00000303545	2/2	395	372	23	313	313	0	strelka-varscan-mutect	RNF139,missense_variant,p.Phe273Ile,ENST00000303545,NM_007218.3;TATDN1,downstream_gene_variant,,ENST00000276692,NM_032026.3;TATDN1,downstream_gene_variant,,ENST00000522810,;TATDN1,downstream_gene_variant,,ENST00000630259,;TATDN1,downstream_gene_variant,,ENST00000519548,NM_001146160.1;RNF139,downstream_gene_variant,,ENST00000517684,;RP11-158K1.3,upstream_gene_variant,,ENST00000518639,;TATDN1,downstream_gene_variant,,ENST00000523631,;TATDN1,downstream_gene_variant,,ENST00000523214,NM_001317889.1;TATDN1,downstream_gene_variant,,ENST00000522927,NM_001317891.1;	A	ENST00000303545	Transcript	missense_variant	1189/2637	817/1995	273/664	F/I	Ttt/Att		1		1	RNF139	HGNC	HGNC:17023	protein_coding	YES	CCDS6350.1	ENSP00000304051	Q8WU17		UPI0000071331	NM_007218.3	deleterious(0.05)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR22763:SF31,hmmpanther:PTHR22763,Pfam_domain:PF13705																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	124486466	124486466	T	A	1	0	0	0	0	1	0	0	0	13620	1841	64	4		4	RNF139	8	124486466	Missense_Mutation	SNP	T	C3N-02089_TP	4040918	124486466	20652170	488	29285											
TRIB1	0	.	GRCh38	chr8	125436190	125436190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctctacacccttctggttGgacgataccccttccatgac	7	12	7	15	1	2	1	0	1	2	0	3	3	3	2	4	2	3	2	4	2	2	5			C3N-02089_TP	C3N-02089_NB	G	G																c.838G>C	p.Gly280Arg	p.G280R	ENST00000311922	3/3	483	452	31	304	304	0	strelka-varscan-mutect	TRIB1,missense_variant,p.Gly280Arg,ENST00000311922,NM_025195.3;TRIB1,missense_variant,p.Gly49Arg,ENST00000519576,;TRIB1,missense_variant,p.Gly114Arg,ENST00000520847,NM_001282985.1;TRIB1,downstream_gene_variant,,ENST00000521778,;	C	ENST00000311922	Transcript	missense_variant	1420/3635	838/1119	280/372	G/R	Gga/Cga	COSM5612993	1		1	TRIB1	HGNC	HGNC:16891	protein_coding	YES	CCDS6357.1	ENSP00000312150	Q96RU8		UPI00000717B2	NM_025195.3	deleterious(0)		3/3		PROSITE_profiles:PS50011,hmmpanther:PTHR22961,hmmpanther:PTHR22961:SF17,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	90	125436190	125436190	G	C	1	0	0	0	0	1	0	0	0	16971	1349	47	4		4	TRIB1	8	125436190	Missense_Mutation	SNP	G	C3N-02089_TP	949724	125436190	19702446	489	29286											
POU5F1B	0	.	GRCh38	chr8	127416095	127416095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggggggatggcgtactgtGggcctcaggttggagtgggg	4	9	23	5	1	1	0	1	0	0	0	1	2	1	2	1	9	1	2	1	9	1	2	rs780624994		C3N-02089_TP	C3N-02089_NB	G	G																c.229G>T	p.Gly77Trp	p.G77W	ENST00000465342	2/2	333	210	123	201	201	0	strelka-varscan-mutect	POU5F1B,missense_variant,p.Gly77Trp,ENST00000465342,NM_001159542.1;CASC8,intron_variant,,ENST00000502082,;CASC8,intron_variant,,ENST00000501396,;CASC8,intron_variant,,ENST00000523825,;	T	ENST00000465342	Transcript	missense_variant	1386/5360	229/1080	77/359	G/W	Ggg/Tgg	rs780624994	1		1	POU5F1B	HGNC	HGNC:9223	protein_coding	YES	CCDS55274.1	ENSP00000419298	Q06416		UPI000013F18B	NM_001159542.1	deleterious(0.01)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF86																	MODERATE		SNV	3			1										PASS		.	.												T	3	4	90	127416095	127416095	G	T	1	0	0	0	0	1	0	0	0	12398	1348	47	2		2	POU5F1B	8	127416095	Missense_Mutation	SNP	G	C3N-02089_TP	1979905	127416095	17722541	490	29287											
POU5F1B	0	.	GRCh38	chr8	127416570	127416570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcccgaaagagaaagcgaaCcagtatcgagaaccgagtga	16	3	13	9	4	0	3	0	1	0	2	1	8	0	3	3	1	3	1	3	1	5	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.704C>A	p.Thr235Asn	p.T235N	ENST00000465342	2/2	795	481	314	538	536	2	strelka-varscan-mutect	POU5F1B,missense_variant,p.Thr235Asn,ENST00000465342,NM_001159542.1;CASC8,intron_variant,,ENST00000502082,;CASC8,intron_variant,,ENST00000501396,;CASC8,intron_variant,,ENST00000523825,;	A	ENST00000465342	Transcript	missense_variant	1861/5360	704/1080	235/359	T/N	aCc/aAc		1		1	POU5F1B	HGNC	HGNC:9223	protein_coding	YES	CCDS55274.1	ENSP00000419298	Q06416		UPI000013F18B	NM_001159542.1	deleterious(0.02)		2/2		PROSITE_profiles:PS50071,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF86,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00028																	MODERATE		SNV	3			1										PASS		.	.												A	3	1	90	127416570	127416570	C	A	1	0	0	0	0	1	0	0	0	12398	507	18	2		2	POU5F1B	8	127416570	Missense_Mutation	SNP	C	C3N-02089_TP	475	127416570	17722066	491	29288											
KCNQ3	0	.	GRCh38	chr8	132175596	132175596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggaaaccgatgtaccaggCcgtgatgagttcctgaaaga	13	7	12	9	2	0	4	0	3	0	1	1	6	1	5	4	2	2	2	4	2	3	2			C3N-02089_TP	C3N-02089_NB	C	C																c.790G>T	p.Ala264Ser	p.A264S	ENST00000388996	5/15	583	336	247	402	400	2	strelka-varscan-mutect	KCNQ3,missense_variant,p.Ala264Ser,ENST00000388996,NM_004519.3;KCNQ3,missense_variant,p.Ala143Ser,ENST00000621976,;KCNQ3,missense_variant,p.Ala264Ser,ENST00000519445,;KCNQ3,missense_variant,p.Ala144Ser,ENST00000521134,NM_001204824.1;KCNQ3,non_coding_transcript_exon_variant,,ENST00000519589,;	A	ENST00000388996	Transcript	missense_variant	1211/11441	790/2619	264/872	A/S	Gcc/Tcc	COSM3395106	1		-1	KCNQ3	HGNC	HGNC:6297	protein_coding	YES	CCDS34943.1	ENSP00000373648	O43525		UPI00001279F0	NM_004519.3	deleterious(0.01)		5/15		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,Prints_domain:PR01459,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF5,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	90	132175596	132175596	C	A	1	0	0	0	0	1	0	0	0	8000	739	26	2		2	KCNQ3	8	132175596	Missense_Mutation	SNP	C	C3N-02089_TP	4759026	132175596	12963040	492	29289											
PHF20L1	0	.	GRCh38	chr8	132794478	132794478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccattttgagcgctggaGtcatcgttatgatgagtgga	8	13	14	6	2	1	3	1	3	0	0	3	5	2	5	1	3	1	2	1	3	1	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.152G>T	p.Ser51Ile	p.S51I	ENST00000395386	3/21	310	288	22	204	204	0	strelka-varscan-mutect	PHF20L1,missense_variant,p.Ser51Ile,ENST00000395386,NM_016018.4;PHF20L1,missense_variant,p.Ser51Ile,ENST00000395390,;PHF20L1,missense_variant,p.Ser51Ile,ENST00000622263,;PHF20L1,missense_variant,p.Ser51Ile,ENST00000220847,NM_001277196.1;PHF20L1,missense_variant,p.Ser51Ile,ENST00000337920,NM_198513.1;PHF20L1,missense_variant,p.Ser51Ile,ENST00000395376,;PHF20L1,missense_variant,p.Ser51Ile,ENST00000395379,;PHF20L1,missense_variant,p.Ser51Ile,ENST00000485595,;PHF20L1,missense_variant,p.Ser9Ile,ENST00000522580,;PHF20L1,missense_variant,p.Ser51Ile,ENST00000486199,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000361997,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000395383,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000315808,;PHF20L1,upstream_gene_variant,,ENST00000521038,;	T	ENST00000395386	Transcript	missense_variant	451/6237	152/3054	51/1017	S/I	aGt/aTt		1		1	PHF20L1	HGNC	HGNC:24280	protein_coding	YES	CCDS6367.2	ENSP00000378784	A8MW92		UPI0000DBD7AF	NM_016018.4	deleterious(0)		3/21		hmmpanther:PTHR15856:SF26,hmmpanther:PTHR15856,Gene3D:2.30.30.160,SMART_domains:SM00743,SMART_domains:SM00333,Superfamily_domains:SSF63748																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	132794478	132794478	G	T	1	0	0	0	0	1	0	0	0	11918	1029	36	2		2	PHF20L1	8	132794478	Missense_Mutation	SNP	G	C3N-02089_TP	618882	132794478	12344158	493	29290											
FAM135B	0	.	GRCh38	chr8	138178578	138178578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagataagtggtcacttggGagtgcagagtgactgtgtcc	9	11	15	6	0	1	3	1	2	0	2	2	5	2	4	1	2	1	1	1	2	1	2			C3N-02089_TP	C3N-02089_NB	G	G																c.986C>A	p.Ser329Tyr	p.S329Y	ENST00000395297	10/20	332	299	33	183	183	0	strelka-varscan-mutect	FAM135B,missense_variant,p.Ser329Tyr,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Ser329Tyr,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;	T	ENST00000395297	Transcript	missense_variant	1157/6962	986/4221	329/1406	S/Y	tCc/tAc	COSM3645573,COSM3645574	1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3	deleterious(0)		10/20		hmmpanther:PTHR12482:SF3,hmmpanther:PTHR12482											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	90	138178578	138178578	G	T	1	0	0	0	0	1	0	0	0	5299	1174	41	2		2	FAM135B	8	138178578	Missense_Mutation	SNP	G	C3N-02089_TP	5384100	138178578	6960058	494	29291											
CYP11B1	0	.	GRCh38	chr8	142877077	142877077	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccagggtcaggctcccccGggcgttctgcagcaccttct	4	9	12	16	2	3	0	1	0	2	0	5	0	5	0	4	3	2	4	4	3	0	2	rs373856010		C3N-02089_TP	C3N-02089_NB	G	G																c.541C>A	p.=	p.R181R	ENST00000292427	3/9	383	334	49	257	257	0	varscan-mutect	CYP11B1,synonymous_variant,p.=,ENST00000292427,NM_000497.3;CYP11B1,synonymous_variant,p.=,ENST00000377675,;CYP11B1,synonymous_variant,p.=,ENST00000517471,NM_001026213.1;GML,intron_variant,,ENST00000522728,;CYP11B1,upstream_gene_variant,,ENST00000519285,;CYP11B1,non_coding_transcript_exon_variant,,ENST00000314111,;	T	ENST00000292427	Transcript	synonymous_variant	574/2664	541/1512	181/503	R	Cgg/Agg	rs373856010	1		-1	CYP11B1	HGNC	HGNC:2591	protein_coding	YES	CCDS6392.1	ENSP00000292427	P15538		UPI000013E0BA	NM_000497.3			3/9		hmmpanther:PTHR24279,hmmpanther:PTHR24279:SF46,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	LOW	1	SNV	1			1										PASS		rs373856010	.												T	2	4	90	142877077	142877077	G	T	1	0	0	0	0	0	0	0	1	3948	1115	39	1		1	CYP11B1	8	142877077	Silent	SNP	G	C3N-02089_TP	4698499	142877077	2261559	495	29292											
GPIHBP1	0	.	GRCh38	chr8	143215357	143215357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaccatgacctgctgcCagtccagcctgtgcaatgtc	8	9	11	13	0	0	2	0	2	0	0	2	2	1	2	5	1	4	2	5	1	1	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.394C>A	p.Gln132Lys	p.Q132K	ENST00000622500	4/4	509	334	175	401	400	1	strelka-mutect	GPIHBP1,missense_variant,p.Gln132Lys,ENST00000622500,NM_001301772.1,NM_178172.5;	A	ENST00000622500	Transcript	missense_variant	469/2282	394/555	132/184	Q/K	Cag/Aag		1		1	GPIHBP1	HGNC	HGNC:24945	protein_coding	YES	CCDS34954.1	ENSP00000480053	Q8IV16		UPI00002283CA	NM_001301772.1,NM_178172.5	deleterious(0.01)		4/4		Gene3D:2.10.60.10,Pfam_domain:PF00021,hmmpanther:PTHR16983,hmmpanther:PTHR16983:SF12,Superfamily_domains:SSF57302																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	143215357	143215357	C	A	1	0	0	0	0	1	0	0	0	6514	595	21	2		2	GPIHBP1	8	143215357	Missense_Mutation	SNP	C	C3N-02089_TP	338280	143215357	1923279	496	29293											
ZNF696	0	.	GRCh38	chr8	143296665	143296665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccactgcgggcgcgcgttCcgggcgctgtcgggcttctt	1	9	17	14	7	1	0	0	0	1	0	3	0	2	0	2	4	1	3	2	4	0	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.990C>A	p.Phe330Leu	p.F330L	ENST00000330143	3/3	126	114	12	93	93	0	strelka-varscan	ZNF696,missense_variant,p.Phe330Leu,ENST00000330143,NM_030895.2;ZNF696,downstream_gene_variant,,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000523891,;ZNF696,downstream_gene_variant,,ENST00000518432,;	A	ENST00000330143	Transcript	missense_variant	1399/2795	990/1125	330/374	F/L	ttC/ttA		1		1	ZNF696	HGNC	HGNC:25872	protein_coding	YES	CCDS6399.1	ENSP00000328515	Q9H7X3		UPI000013E0BC	NM_030895.2	deleterious(0)		3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF110,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	143296665	143296665	C	A	1	0	0	0	0	1	0	0	0	18672	854	30	2		2	ZNF696	8	143296665	Missense_Mutation	SNP	C	C3N-02089_TP	81308	143296665	1841971	497	29294											
ZNF696	0	.	GRCh38	chr8	143296688	143296688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctgtcgggcttcttccGgcaccagcgactccacacgg	5	7	13	16	5	1	0	0	0	1	0	4	1	3	0	3	4	1	3	3	4	0	2	rs763590560		C3N-02089_TP	C3N-02089_NB	G	G																c.1013G>T	p.Arg338Leu	p.R338L	ENST00000330143	3/3	101	90	11	101	101	0	strelka-varscan	ZNF696,missense_variant,p.Arg338Leu,ENST00000330143,NM_030895.2;ZNF696,downstream_gene_variant,,ENST00000518575,;ZNF696,downstream_gene_variant,,ENST00000521537,;ZNF696,downstream_gene_variant,,ENST00000520333,;ZNF696,downstream_gene_variant,,ENST00000523891,;ZNF696,downstream_gene_variant,,ENST00000518432,;	T	ENST00000330143	Transcript	missense_variant	1422/2795	1013/1125	338/374	R/L	cGg/cTg	rs763590560	1		1	ZNF696	HGNC	HGNC:25872	protein_coding	YES	CCDS6399.1	ENSP00000328515	Q9H7X3		UPI000013E0BC	NM_030895.2	tolerated(0.12)		3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF110,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	143296688	143296688	G	T	1	0	0	0	0	1	0	0	0	18672	1116	39	1		1	ZNF696	8	143296688	Missense_Mutation	SNP	G	C3N-02089_TP	23	143296688	1841948	498	29295											
ZNF623	0	.	GRCh38	chr8	143650591	143650591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttttgaatgcaaagagtGtgggaaaggcttcagtcaga	13	10	12	6	0	2	3	2	1	0	2	2	4	2	4	1	2	1	2	1	2	3	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.719G>C	p.Cys240Ser	p.C240S	ENST00000501748	1/1	261	215	46	191	191	0	strelka-varscan-mutect	ZNF623,missense_variant,p.Cys240Ser,ENST00000501748,NM_014789.3;ZNF623,missense_variant,p.Cys200Ser,ENST00000458270,NM_001082480.2;ZNF623,missense_variant,p.Cys200Ser,ENST00000526926,NM_001261843.1;	C	ENST00000501748	Transcript	missense_variant	932/6759	719/1611	240/536	C/S	tGt/tCt		1		1	ZNF623	HGNC	HGNC:29084	protein_coding	YES	CCDS34957.1	ENSP00000445979	O75123		UPI0000139B4D	NM_014789.3	deleterious(0)		1/1		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF244,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	90	143650591	143650591	G	C	1	0	0	0	0	1	0	0	0	18622	1377	48	4		4	ZNF623	8	143650591	Missense_Mutation	SNP	G	C3N-02089_TP	353903	143650591	1488045	499	29296											
CCDC166	0	.	GRCh38	chr8	143706915	143706915	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgacagggcccgggagcCtgcgcgcgaagcggtcaggg	7	2	19	13	6	1	0	1	0	0	0	1	3	1	1	2	4	4	0	2	4	1	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1099G>T	p.Gly367Cys	p.G367C	ENST00000542437	2/2	234	137	97	131	131	0	strelka-varscan-mutect	CCDC166,missense_variant,p.Gly367Cys,ENST00000542437,NM_001162914.1;RP11-429J17.4,downstream_gene_variant,,ENST00000527579,;ZNF707,intron_variant,,ENST00000527561,;ZNF707,upstream_gene_variant,,ENST00000508587,;	A	ENST00000542437	Transcript	missense_variant	1099/1320	1099/1320	367/439	G/C	Ggc/Tgc		1		-1	CCDC166	HGNC	HGNC:41910	protein_coding	YES	CCDS55280.1	ENSP00000437468	P0CW27		UPI00016623E2	NM_001162914.1	deleterious(0.05)		2/2		hmmpanther:PTHR14845,hmmpanther:PTHR14845:SF4																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	90	143706915	143706915	C	A	1	0	0	0	0	1	0	0	0	2482	681	24	2		2	CCDC166	8	143706915	Missense_Mutation	SNP	C	C3N-02089_TP	56324	143706915	1431721	500	29297											
CCDC166	0	.	GRCh38	chr8	143707087	143707087	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacggtaccacagacggggtCtgggaggccgcgcgcgacgg	7	3	19	12	7	1	1	0	0	1	1	1	4	1	2	2	6	1	1	2	6	1	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.927G>A	p.=	p.Q309Q	ENST00000542437	2/2	159	142	17	68	68	0	strelka-varscan-mutect	CCDC166,synonymous_variant,p.=,ENST00000542437,NM_001162914.1;RP11-429J17.4,downstream_gene_variant,,ENST00000527579,;ZNF707,intron_variant,,ENST00000527561,;ZNF707,upstream_gene_variant,,ENST00000508587,;	T	ENST00000542437	Transcript	synonymous_variant	927/1320	927/1320	309/439	Q	caG/caA		1		-1	CCDC166	HGNC	HGNC:41910	protein_coding	YES	CCDS55280.1	ENSP00000437468	P0CW27		UPI00016623E2	NM_001162914.1			2/2		hmmpanther:PTHR14845,hmmpanther:PTHR14845:SF4																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	90	143707087	143707087	C	T	1	0	0	0	0	0	0	0	1	2482	912	32	3		3	CCDC166	8	143707087	Silent	SNP	C	C3N-02089_TP	172	143707087	1431549	501	29298											
MROH1	0	.	GRCh38	chr8	144260937	144260937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgccctgcgcatgtgtggcCccaatctggcatgtgaggag	6	10	14	11	1	1	1	0	1	1	0	1	2	1	2	3	3	2	2	3	3	1	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.4567C>A	p.Pro1523Thr	p.P1523T	ENST00000528919	40/43	1112	1045	67	689	688	1	strelka-varscan-mutect	MROH1,missense_variant,p.Pro1523Thr,ENST00000528919,NM_032450.2;MROH1,missense_variant,p.Pro1523Thr,ENST00000326134,;MROH1,missense_variant,p.Pro1514Thr,ENST00000534366,NM_001288814.1;MROH1,missense_variant,p.Pro485Thr,ENST00000544576,;BOP1,downstream_gene_variant,,ENST00000569669,NM_015201.4;BOP1,downstream_gene_variant,,ENST00000569403,;BOP1,downstream_gene_variant,,ENST00000616126,;BOP1,downstream_gene_variant,,ENST00000563210,;BOP1,downstream_gene_variant,,ENST00000568812,;BOP1,downstream_gene_variant,,ENST00000569160,;	A	ENST00000528919	Transcript	missense_variant	4688/5234	4567/4926	1523/1641	P/T	Ccc/Acc		1		1	MROH1	HGNC	HGNC:26958	protein_coding	YES	CCDS47938.1	ENSP00000435565	Q8NDA8		UPI0001AE6FA6	NM_032450.2	deleterious(0.01)		40/43		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF13,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs930805641	.												A	3	1	90	144260937	144260937	C	A	1	0	0	0	0	1	0	0	0	9743	623	22	2		2	MROH1	8	144260937	Missense_Mutation	SNP	C	C3N-02089_TP	553850	144260937	877699	502	29299											
SLC39A4	0	.	GRCh38	chr8	144414362	144414362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacccccctgcagccagtgCaggtcagcagcaggaggcca	9	4	13	15	0	1	1	1	1	0	0	1	2	1	2	5	3	5	4	5	3	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1049G>A	p.Cys350Tyr	p.C350Y	ENST00000301305	6/12	347	274	73	182	182	0	strelka-varscan-mutect	SLC39A4,missense_variant,p.Cys325Tyr,ENST00000276833,NM_017767.2;SLC39A4,missense_variant,p.Cys350Tyr,ENST00000301305,NM_130849.3;SLC39A4,downstream_gene_variant,,ENST00000526658,;GS1-393G12.14,downstream_gene_variant,,ENST00000607491,;SLC39A4,upstream_gene_variant,,ENST00000531013,;SLC39A4,upstream_gene_variant,,ENST00000527148,;SLC39A4,upstream_gene_variant,,ENST00000532718,;SLC39A4,upstream_gene_variant,,ENST00000530807,;SLC39A4,upstream_gene_variant,,ENST00000531789,;SLC39A4,upstream_gene_variant,,ENST00000529462,;	T	ENST00000301305	Transcript	missense_variant	1155/2174	1049/1944	350/647	C/Y	tGc/tAc		1		-1	SLC39A4	HGNC	HGNC:17129	protein_coding	YES	CCDS6424.1	ENSP00000301305	Q6P5W5		UPI0002064DC4	NM_130849.3	deleterious(0)		6/12		Pfam_domain:PF02535,hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF11,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	144414362	144414362	C	T	1	0	0	0	0	1	0	0	0	14898	710	25	3		3	SLC39A4	8	144414362	Missense_Mutation	SNP	C	C3N-02089_TP	153425	144414362	724274	503	29300											
DMRT2	0	.	GRCh38	chr9	1051966	1051966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggagccgcgcaagctgaGccgcacgcccaagtgcgcgc	7	2	15	17	8	0	1	0	1	0	0	0	2	0	2	3	1	4	3	3	1	2	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.353G>T	p.Ser118Ile	p.S118I	ENST00000382251	3/5	96	74	22	52	52	0	strelka-varscan-mutect	DMRT2,missense_variant,p.Ser118Ile,ENST00000259622,;DMRT2,missense_variant,p.Ser118Ile,ENST00000382255,NM_006557.6,NM_001130865.2;DMRT2,missense_variant,p.Ser118Ile,ENST00000382251,NM_181872.4;DMRT2,missense_variant,p.Ser118Ile,ENST00000635183,;DMRT2,missense_variant,p.Ser118Ile,ENST00000358146,;DMRT2,missense_variant,p.Ser118Ile,ENST00000412350,;DMRT2,intron_variant,,ENST00000302441,;LINC01230,downstream_gene_variant,,ENST00000625222,;DMRT2,upstream_gene_variant,,ENST00000634526,;DMRT2,upstream_gene_variant,,ENST00000634824,;	T	ENST00000382251	Transcript	missense_variant	682/2292	353/1686	118/561	S/I	aGc/aTc		1		1	DMRT2	HGNC	HGNC:2935	protein_coding	YES	CCDS6444.1	ENSP00000371686	Q9Y5R5		UPI000013D066	NM_181872.4	deleterious(0.01)		3/5		hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF72,Gene3D:1lpvA00,Superfamily_domains:0040609																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	1051966	1051966	G	T	1	0	0	0	0	1	0	0	0	4393	971	34	2		2	DMRT2	9	1051966	Missense_Mutation	SNP	G	C3N-02089_TP		1051966	137342751	504	29301											
GLDC	0	.	GRCh38	chr9	6602146	6602146	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtagccttgtctctcCgaatgtgttgctccctggtt	3	16	11	11	1	1	0	0	0	1	0	4	1	3	0	3	2	3	5	3	2	2	4			C3N-02089_TP	C3N-02089_NB	C	C																c.1118G>T	p.Arg373Leu	p.R373L	ENST00000321612	8/25	371	349	22	347	347	0	strelka-varscan-mutect	GLDC,missense_variant,p.Arg373Leu,ENST00000321612,NM_000170.2;GLDC,non_coding_transcript_exon_variant,,ENST00000463305,;	A	ENST00000321612	Transcript	missense_variant	1269/3767	1118/3063	373/1020	R/L	cGg/cTg	COSM1109551	1		-1	GLDC	HGNC	HGNC:4313	protein_coding	YES	CCDS34987.1	ENSP00000370737	P23378		UPI0000684276	NM_000170.2	deleterious(0)		8/25		HAMAP:MF_00711,hmmpanther:PTHR11773,hmmpanther:PTHR11773:SF1,Pfam_domain:PF02347,TIGRFAM_domain:TIGR00461,Superfamily_domains:SSF53383											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	90	6602146	6602146	C	A	1	0	0	0	0	1	0	0	0	6311	652	23	1		1	GLDC	9	6602146	Missense_Mutation	SNP	C	C3N-02089_TP	5550180	6602146	131792571	505	29302											
NFIB	0	.	GRCh38	chr9	14125656	14125657	+	Frame_Shift_Ins	INS	-	-	GGGAT																															tgtgcaactccaggtattccINSgggatggtggtgctggggga																								novel		C3N-02089_TP	C3N-02089_NB	-	-																c.1031_1035dupATCCC	p.Gly346IlefsTer50	p.G346Ifs*50	ENST00000380953	7/11	214	171	43	163	163	0	sindel-varindel	NFIB,frameshift_variant,p.Gly346IlefsTer50,ENST00000380959,NM_005596.3;NFIB,frameshift_variant,p.Gly94IlefsTer50,ENST00000543693,NM_001282787.1;NFIB,frameshift_variant,p.Gly346IlefsTer50,ENST00000397581,;NFIB,frameshift_variant,p.Gly346IlefsTer50,ENST00000397579,;NFIB,frameshift_variant,p.Gly346IlefsTer50,ENST00000397575,;NFIB,frameshift_variant,p.Gly346IlefsTer50,ENST00000380953,NM_001190737.1;NFIB,frameshift_variant,p.Gly342IlefsTer50,ENST00000606230,;NFIB,frameshift_variant,p.Gly346IlefsTer50,ENST00000637742,;NFIB,frameshift_variant,p.Gly372IlefsTer50,ENST00000380934,NM_001190738.1;NFIB,frameshift_variant,p.Gly337IlefsTer50,ENST00000636057,;NFIB,frameshift_variant,p.Gly339IlefsTer50,ENST00000635877,;NFIB,frameshift_variant,p.Gly337IlefsTer50,ENST00000637640,;NFIB,frameshift_variant,p.Gly267IlefsTer50,ENST00000636432,;NFIB,frameshift_variant,p.Gly167IlefsTer50,ENST00000636735,;NFIB,frameshift_variant,p.Gly94IlefsTer50,ENST00000380924,;	GGGAT	ENST00000380953	Transcript	frameshift_variant	1191-1192/2381	1035-1036/1485	345-346/494	-/IX	-/ATCCC		1		-1	NFIB	HGNC	HGNC:7785	protein_coding	YES	CCDS55291.1	ENSP00000370340	O00712		UPI0000211140	NM_001190737.1			7/11		Pfam_domain:PF00859,hmmpanther:PTHR11492,hmmpanther:PTHR11492:SF4																	HIGH	1	insertion	1			1										PASS		.	.												GGGAT	7	5	90	14125656	14125656	-	GGGAT	1	0	1	1	0	0	0	0	0	10408	661	23	0		0	NFIB	9	14125656	Frame_Shift_Ins	INS	-	C3N-02089_TP	7523510	14125656	124269061	506	29303											
CCDC171	0	.	GRCh38	chr9	15594046	15594046	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatttatataaaggaagcGttggaaaaacatcaacggga	17	11	9	4	2	1	0	1	0	0	0	1	3	1	3	0	3	3	1	0	3	9	7	rs149972101		C3N-02089_TP	C3N-02089_NB	G	G																c.549G>T	p.=	p.A183A	ENST00000380701	6/26	159	115	44	204	203	1	strelka-varscan-mutect	CCDC171,synonymous_variant,p.=,ENST00000380701,NM_173550.2;CCDC171,synonymous_variant,p.=,ENST00000535968,;	T	ENST00000380701	Transcript	synonymous_variant	877/6512	549/3981	183/1326	A	gcG/gcT	rs149972101	1		1	CCDC171	HGNC	HGNC:29828	protein_coding	YES	CCDS6481.1	ENSP00000370077	Q6TFL3		UPI000021C44B	NM_173550.2			6/26		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF388																	LOW	1	SNV	1			1										PASS		rs149972101	.												T	2	4	90	15594046	15594046	G	T	1	0	0	0	0	0	0	0	1	2488	1159	40	1		1	CCDC171	9	15594046	Silent	SNP	G	C3N-02089_TP	1468390	15594046	122800671	507	29304											
BNC2	0	.	GRCh38	chr9	16419394	16419394	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggactggaggctggaGgtggtgctcaagtcaaggac	8	8	17	8	0	2	0	2	0	0	0	2	4	2	4	0	7	2	3	0	7	2	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2895C>A	p.=	p.T965T	ENST00000380672	7/7	50	38	12	74	74	0	strelka-varscan-mutect	BNC2,synonymous_variant,p.=,ENST00000380672,NM_001317940.1,NM_017637.5;BNC2,synonymous_variant,p.=,ENST00000380667,;BNC2,3_prime_UTR_variant,,ENST00000545497,;BNC2,3_prime_UTR_variant,,ENST00000418777,;BNC2,3_prime_UTR_variant,,ENST00000411752,;BNC2,3_prime_UTR_variant,,ENST00000484726,;	T	ENST00000380672	Transcript	synonymous_variant	2953/12844	2895/3300	965/1099	T	acC/acA		1		-1	BNC2	HGNC	HGNC:30988	protein_coding	YES	CCDS6482.2	ENSP00000370047	Q6ZN30		UPI000035E7B0	NM_001317940.1,NM_017637.5			7/7		Low_complexity_(Seg):seg,hmmpanther:PTHR15021:SF2,hmmpanther:PTHR15021																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	90	16419394	16419394	G	T	1	0	0	0	0	0	0	0	1	1631	987	35	2		2	BNC2	9	16419394	Silent	SNP	G	C3N-02089_TP	825348	16419394	121975323	508	29305											
DENND4C	0	.	GRCh38	chr9	19346927	19346927	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttcttcgccacatggctcGttgggttctgtagtaaattc	6	15	10	10	3	2	0	0	0	2	0	5	0	2	0	1	2	0	6	1	2	3	7	rs370975988		C3N-02089_TP	C3N-02089_NB	G	G																c.4011G>T	p.=	p.S1337S	ENST00000602925	22/32	242	174	68	267	267	0	strelka-varscan-mutect	DENND4C,synonymous_variant,p.=,ENST00000602925,NM_017925.6;DENND4C,synonymous_variant,p.=,ENST00000434457,;DENND4C,synonymous_variant,p.=,ENST00000380427,;DENND4C,synonymous_variant,p.=,ENST00000361024,;DENND4C,synonymous_variant,p.=,ENST00000380424,;DENND4C,3_prime_UTR_variant,,ENST00000494124,;DENND4C,non_coding_transcript_exon_variant,,ENST00000380437,;	T	ENST00000602925	Transcript	synonymous_variant	4427/6831	4011/5730	1337/1909	S	tcG/tcT	rs370975988	1		1	DENND4C	HGNC	HGNC:26079	protein_coding	YES	CCDS6491.3	ENSP00000473565		R4GNB2	UPI0000EE421F	NM_017925.6			22/32		Low_complexity_(Seg):seg,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF17																	LOW	1	SNV	5			1										PASS		rs370975988	.												T	2	4	90	19346927	19346927	G	T	1	0	0	0	0	0	0	0	1	4239	1132	40	1		1	DENND4C	9	19346927	Silent	SNP	G	C3N-02089_TP	2927533	19346927	119047790	509	29306											
SLC24A2	0	.	GRCh38	chr9	19786168	19786168	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaaagagcggccaccatgtCaggtttaagatttctctaga	12	10	10	9	2	2	3	1	0	1	3	3	4	2	3	2	2	1	1	2	2	3	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.699G>C	p.=	p.L233L	ENST00000341998	1/10	341	258	83	448	448	0	strelka-varscan-mutect	SLC24A2,synonymous_variant,p.=,ENST00000341998,NM_020344.3;SLC24A2,synonymous_variant,p.=,ENST00000286344,NM_001193288.2;	G	ENST00000341998	Transcript	synonymous_variant	761/10749	699/1986	233/661	L	ctG/ctC		1		-1	SLC24A2	HGNC	HGNC:10976	protein_coding	YES	CCDS6493.1	ENSP00000344801	Q9UI40		UPI000004FA46	NM_020344.3			1/10		Transmembrane_helices:TMhelix,hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF41,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	90	19786168	19786168	C	G	1	0	0	0	0	0	0	0	1	14732	813	29	4		4	SLC24A2	9	19786168	Silent	SNP	C	C3N-02089_TP	439241	19786168	118608549	510	29307											
CDKN2A	0	.	GRCh38	chr9	21974807	21974807	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagccgaaggctccatgctGctccccgccgccggctccat	5	7	10	19	4	1	0	1	0	0	0	4	1	4	0	7	2	3	4	7	2	1	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.21C>T	p.=	p.S7S	ENST00000498124	1/4	192	141	51	135	135	0	strelka-varscan-mutect	CDKN2A,synonymous_variant,p.=,ENST00000304494,NM_000077.4;CDKN2A,synonymous_variant,p.=,ENST00000498124,NM_001195132.1;CDKN2A,synonymous_variant,p.=,ENST00000579122,;CDKN2A,intron_variant,,ENST00000579755,NM_058195.3;CDKN2A,intron_variant,,ENST00000494262,;CDKN2A,intron_variant,,ENST00000498628,;CDKN2A,intron_variant,,ENST00000530628,;CDKN2A,upstream_gene_variant,,ENST00000578845,;CDKN2A,upstream_gene_variant,,ENST00000497750,;CDKN2A,upstream_gene_variant,,ENST00000479692,;CDKN2A,upstream_gene_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,synonymous_variant,p.=,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;	A	ENST00000498124	Transcript	synonymous_variant	60/880	21/504	7/167	S	agC/agT		1		-1	CDKN2A	HGNC	HGNC:1787	protein_coding	YES	CCDS56565.1	ENSP00000418915	P42771		UPI0001565711	NM_001195132.1			1/4																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	21974807	21974807	G	A	1	0	0	0	0	0	0	0	1	2865	1310	46	3		3	CDKN2A	9	21974807	Silent	SNP	G	C3N-02089_TP	2188639	21974807	116419910	511	29308											
B4GALT1	0	.	GRCh38	chr9	33113838	33113838	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcgacacctcccgaccaCagcatttgggcgagatatag	11	7	10	13	3	0	1	0	0	0	1	1	4	1	1	3	1	2	1	3	1	2	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1000G>C	p.Val334Leu	p.V334L	ENST00000379731	5/6	438	336	102	387	387	0	strelka-varscan-mutect	B4GALT1,missense_variant,p.Val334Leu,ENST00000379731,NM_001497.3;B4GALT1,intron_variant,,ENST00000535206,;	G	ENST00000379731	Transcript	missense_variant	1187/4201	1000/1197	334/398	V/L	Gtg/Ctg		1		-1	B4GALT1	HGNC	HGNC:924	protein_coding	YES	CCDS6535.1	ENSP00000369055	P15291		UPI000002D22E	NM_001497.3	tolerated(0.31)		5/6		hmmpanther:PTHR19300,hmmpanther:PTHR19300:SF5,Gene3D:3.90.550.10,Pfam_domain:PF02709,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		rs1379216670	.												G	3	3	90	33113838	33113838	C	G	1	0	0	0	0	1	0	0	0	1426	478	17	4		4	B4GALT1	9	33113838	Missense_Mutation	SNP	C	C3N-02089_TP	11139031	33113838	105280879	512	29309											
NOL6	0	.	GRCh38	chr9	33464119	33464119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacggggagctgtgccCgagctgccaggaagccactg	8	5	15	13	2	0	1	0	1	0	0	0	4	0	3	4	3	5	2	4	3	1	0			C3N-02089_TP	C3N-02089_NB	C	C																c.2822G>A	p.Arg941Gln	p.R941Q	ENST00000297990	22/26	79	64	15	83	82	1	strelka-varscan-mutect	NOL6,missense_variant,p.Arg941Gln,ENST00000297990,NM_022917.4;NOL6,missense_variant,p.Arg941Gln,ENST00000379471,;NOL6,5_prime_UTR_variant,,ENST00000379470,;NOL6,intron_variant,,ENST00000353159,NM_139235.3;MIR6851,downstream_gene_variant,,ENST00000617060,;NOL6,intron_variant,,ENST00000464829,;	T	ENST00000297990	Transcript	missense_variant	2910/4741	2822/3441	941/1146	R/Q	cGg/cAg	COSM3952664,COSM3952665,COSM5475282,COSM5475283	1		-1	NOL6	HGNC	HGNC:19910	protein_coding	YES	CCDS6543.1	ENSP00000297990	Q9H6R4		UPI0000050326	NM_022917.4	deleterious(0)		22/26		Pfam_domain:PF03813,hmmpanther:PTHR17972											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												T	3	4	90	33464119	33464119	C	T	1	0	0	0	0	1	0	0	0	10569	652	23	1		1	NOL6	9	33464119	Missense_Mutation	SNP	C	C3N-02089_TP	350281	33464119	104930598	513	29310											
PRSS3	0	.	GRCh38	chr9	33750620	33750620	+	Frame_Shift_Del	DEL	G	G	-																															caggcctggcagagtggagcGgggcggggcgcagcggggcg																								novel		C3N-02089_TP	C3N-02089_NB	G	G																c.107delG	p.Gly36AlafsTer63	p.G36Afs*63	ENST00000361005	1/5	61	48	13	58	58	0	sindel-varindel-pindel	PRSS3,frameshift_variant,p.Gly36AlafsTer63,ENST00000361005,NM_007343.3;PRSS3,5_prime_UTR_variant,,ENST00000342836,NM_001197097.2;PRSS3,upstream_gene_variant,,ENST00000429677,NM_001197098.1;PRSS3,upstream_gene_variant,,ENST00000457896,;PRSS3,upstream_gene_variant,,ENST00000468152,;	-	ENST00000361005	Transcript	frameshift_variant	104/966	104/915	35/304	R/X	cGg/cg		1		1	PRSS3	HGNC	HGNC:9486	protein_coding	YES	CCDS47958.1	ENSP00000354280	P35030		UPI000013C519	NM_007343.3			1/5		hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF23																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	90	33750620	33750620	G	-	1	0	1	0	1	0	0	0	0	12769	1116	39	0		0	PRSS3	9	33750620	Frame_Shift_Del	DEL	G	C3N-02089_TP	286501	33750620	104644097	514	29311											
ALDH1B1	0	.	GRCh38	chr9	38396441	38396441	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaaggaggcaggctttccCcctggggtggtgaacatcat	9	9	13	10	0	2	1	2	1	0	0	3	2	3	2	2	6	1	2	2	6	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.693C>T	p.=	p.P231P	ENST00000377698	2/2	210	164	46	210	210	0	strelka-varscan-mutect	ALDH1B1,synonymous_variant,p.=,ENST00000377698,NM_000692.4;ALDH1B1,downstream_gene_variant,,ENST00000635162,;	T	ENST00000377698	Transcript	synonymous_variant	846/3066	693/1554	231/517	P	ccC/ccT		1		1	ALDH1B1	HGNC	HGNC:407	protein_coding	YES	CCDS6615.1	ENSP00000366927	P30837		UPI0000073000	NM_000692.4			2/2		hmmpanther:PTHR11699:SF211,hmmpanther:PTHR11699,Gene3D:3.40.605.10,Pfam_domain:PF00171,Superfamily_domains:SSF53720																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	38396441	38396441	C	T	1	0	0	0	0	0	0	0	1	593	610	22	3		3	ALDH1B1	9	38396441	Silent	SNP	C	C3N-02089_TP	4645821	38396441	99998276	515	29312											
SPATA31A3	0	.	GRCh38	chr9	66987732	66987732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacgtgaggggcttagatggCcacctgccctcctgtccagc	6	9	12	14	1	0	2	0	1	0	1	2	2	2	2	5	3	3	1	5	3	2	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2766G>T	p.Trp922Cys	p.W922C	ENST00000428649	4/4	129	95	34	141	141	0	strelka-varscan-mutect	SPATA31A3,missense_variant,p.Trp922Cys,ENST00000428649,NM_001083124.1;RP11-395E19.2,non_coding_transcript_exon_variant,,ENST00000616253,;	A	ENST00000428649	Transcript	missense_variant	2828/4256	2766/4044	922/1347	W/C	tgG/tgT		1		-1	SPATA31A3	HGNC	HGNC:32003	protein_coding	YES	CCDS78400.1	ENSP00000485118	Q5VYP0		UPI00004588FC	NM_001083124.1	tolerated(0.14)		4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	66987732	66987732	C	A	1	0	0	0	0	1	0	0	0	15344	740	26	2		2	SPATA31A3	9	66987732	Missense_Mutation	SNP	C	C3N-02089_TP	28591291	66987732	71406985	516	29313											
TMC1	0	.	GRCh38	chr9	72754793	72754793	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcatacagtacctctGgggtttgccatatggcagtt	7	15	9	10	0	3	0	1	0	2	0	3	0	3	0	2	3	3	4	2	3	3	7	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.650G>A	p.Trp217Ter	p.W217*	ENST00000297784	12/24	404	286	118	453	453	0	strelka-varscan-mutect	TMC1,stop_gained,p.Trp217Ter,ENST00000297784,NM_138691.2;TMC1,stop_gained,p.Trp217Ter,ENST00000340019,;	A	ENST00000297784	Transcript	stop_gained	1190/3201	650/2283	217/760	W/*	tGg/tAg		1		1	TMC1	HGNC	HGNC:16513	protein_coding	YES	CCDS6643.1	ENSP00000297784	Q8TDI8		UPI0000161FA9	NM_138691.2			12/24		hmmpanther:PTHR23302:SF18,hmmpanther:PTHR23302																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	90	72754793	72754793	G	A	1	0	0	0	0	0	1	0	0	16430	1357	47	3		3	TMC1	9	72754793	Nonsense_Mutation	SNP	G	C3N-02089_TP	5767061	72754793	65639924	517	29314											
TMC1	0	.	GRCh38	chr9	72772512	72772512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgctctcctattttctagtgGggattatgtgcattggatac	7	16	10	8	1	2	0	0	0	2	0	3	2	2	2	1	3	2	2	1	3	4	7	rs397517842		C3N-02089_TP	C3N-02089_NB	G	G																c.841G>A	p.Gly281Arg	p.G281R	ENST00000297784	13/24	387	278	109	425	425	0	strelka-varscan-mutect	TMC1,missense_variant,p.Gly281Arg,ENST00000297784,NM_138691.2;TMC1,missense_variant,p.Gly281Arg,ENST00000340019,;	A	ENST00000297784	Transcript	missense_variant	1381/3201	841/2283	281/760	G/R	Ggg/Agg	rs397517842	1		1	TMC1	HGNC	HGNC:16513	protein_coding	YES	CCDS6643.1	ENSP00000297784	Q8TDI8		UPI0000161FA9	NM_138691.2	deleterious(0)		13/24		hmmpanther:PTHR23302:SF18,hmmpanther:PTHR23302,Transmembrane_helices:TMhelix										uncertain_significance							MODERATE	1	SNV	1		1	1										PASS		rs397517842	.												A	3	1	90	72772512	72772512	G	A	1	0	0	0	0	1	0	0	0	16430	1232	43	3		3	TMC1	9	72772512	Missense_Mutation	SNP	G	C3N-02089_TP	17719	72772512	65622205	518	29315											
VPS13A	0	.	GRCh38	chr9	77209440	77209440	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagaacaacatctgccggaaAaacaggacacttttgcagaa	17	7	8	9	1	1	2	0	0	1	2	1	4	1	4	1	2	5	1	1	2	6	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.403A>T	p.Lys135Ter	p.K135*	ENST00000360280	6/72	198	172	26	261	261	0	strelka-varscan-mutect	VPS13A,stop_gained,p.Lys135Ter,ENST00000360280,NM_033305.2;VPS13A,stop_gained,p.Lys135Ter,ENST00000376636,NM_001018037.1;VPS13A,stop_gained,p.Lys135Ter,ENST00000376634,NM_001018038.2;VPS13A,stop_gained,p.Lys135Ter,ENST00000357409,NM_015186.3;VPS13A,upstream_gene_variant,,ENST00000471439,;	T	ENST00000360280	Transcript	stop_gained	663/15320	403/9525	135/3174	K/*	Aaa/Taa		1		1	VPS13A	HGNC	HGNC:1908	protein_coding	YES	CCDS6655.1	ENSP00000353422	Q96RL7		UPI0000210B7A	NM_033305.2			6/72		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16166:SF22,hmmpanther:PTHR16166																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	90	77209440	77209440	A	T	1	0	0	0	0	0	1	0	0	17736	15	1	4		4	VPS13A	9	77209440	Nonsense_Mutation	SNP	A	C3N-02089_TP	4436928	77209440	61185277	519	29316											
KIF27	0	.	GRCh38	chr9	83891487	83891487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacaagaagttgttgttcTattattttttcattctttgt	8	22	5	6	0	3	1	1	0	2	1	4	1	4	1	1	0	0	3	1	0	4	10	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1617A>G	p.Ile539Met	p.I539M	ENST00000297814	6/18	125	103	22	163	163	0	strelka-varscan-mutect	KIF27,missense_variant,p.Ile539Met,ENST00000297814,NM_017576.2;KIF27,missense_variant,p.Ile539Met,ENST00000413982,NM_001271927.1;KIF27,missense_variant,p.Ile539Met,ENST00000334204,NM_001271928.1;KIF27,upstream_gene_variant,,ENST00000376347,;	C	ENST00000297814	Transcript	missense_variant	1761/4653	1617/4206	539/1401	I/M	atA/atG		1		-1	KIF27	HGNC	HGNC:18632	protein_coding	YES	CCDS6665.1	ENSP00000297814	Q86VH2		UPI000018F32F	NM_017576.2	tolerated(0.08)		6/18																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	83891487	83891487	T	C	1	0	0	0	0	1	0	0	0	8161	1512	53	5		5	KIF27	9	83891487	Missense_Mutation	SNP	T	C3N-02089_TP	6682047	83891487	54503230	520	29317											
WNK2	0	.	GRCh38	chr9	93300059	93300059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attcatttgcaggctggacgGtttaccacccaacgtctgag	9	11	10	11	2	2	1	1	1	1	0	2	2	2	2	2	3	3	3	2	3	2	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.6235G>T	p.Val2079Phe	p.V2079F	ENST00000297954	26/30	108	97	11	134	134	0	strelka-varscan-mutect	WNK2,missense_variant,p.Val2038Phe,ENST00000432730,;WNK2,missense_variant,p.Val2079Phe,ENST00000297954,NM_001282394.1;WNK2,missense_variant,p.Val2042Phe,ENST00000395477,NM_006648.3;WNK2,missense_variant,p.Val839Phe,ENST00000448251,;WNK2,intron_variant,,ENST00000411624,;WNK2,intron_variant,,ENST00000453718,;WNK2,downstream_gene_variant,,ENST00000427277,;WNK2,non_coding_transcript_exon_variant,,ENST00000479696,;WNK2,intron_variant,,ENST00000474009,;	T	ENST00000297954	Transcript	missense_variant	6235/7138	6235/6894	2079/2297	V/F	Gtt/Ttt		1		1	WNK2	HGNC	HGNC:14542	protein_coding	YES	CCDS75858.1	ENSP00000297954	Q9Y3S1		UPI0000236D76	NM_001282394.1	deleterious(0)		26/30		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	93300059	93300059	G	T	1	0	0	0	0	1	0	0	0	17934	1261	44	2		2	WNK2	9	93300059	Missense_Mutation	SNP	G	C3N-02089_TP	9408572	93300059	45094658	521	29318											
FAM120AOS	0	.	GRCh38	chr9	93452527	93452527	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgcccgggatagcctGgccgggccgggctgcaagat	5	6	16	14	3	0	1	0	0	0	1	0	2	0	2	5	4	3	2	5	4	2	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.183C>A	p.=	p.A61A	ENST00000375412	1/3	171	132	39	208	208	0	strelka-varscan-mutect	FAM120AOS,synonymous_variant,p.=,ENST00000375412,NM_198841.2;FAM120A,intron_variant,,ENST00000277165,NM_014612.4,NM_001286722.1;FAM120A,intron_variant,,ENST00000375389,NM_001286724.1;FAM120A,intron_variant,,ENST00000446420,NM_001286723.1;FAM120AOS,upstream_gene_variant,,ENST00000423591,NM_001322224.1;FAM120AOS,upstream_gene_variant,,ENST00000428378,;FAM120AOS,intron_variant,,ENST00000520470,;FAM120AOS,intron_variant,,ENST00000483149,;FAM120AOS,upstream_gene_variant,,ENST00000479094,;FAM120AOS,upstream_gene_variant,,ENST00000520403,;FAM120AOS,upstream_gene_variant,,ENST00000523407,;FAM120AOS,upstream_gene_variant,,ENST00000483056,;FAM120AOS,upstream_gene_variant,,ENST00000428152,;FAM120AOS,upstream_gene_variant,,ENST00000476484,;	T	ENST00000375412	Transcript	synonymous_variant	1066/2771	183/771	61/256	A	gcC/gcA		1		-1	FAM120AOS	HGNC	HGNC:23389	protein_coding	YES	CCDS6705.1	ENSP00000364561	Q5T036		UPI000013F924	NM_198841.2			1/3																			LOW		SNV	2			1										PASS		.	.												T	2	4	90	93452527	93452527	G	T	1	0	0	0	0	0	0	0	1	5273	1335	47	2		2	FAM120AOS	9	93452527	Silent	SNP	G	C3N-02089_TP	152468	93452527	44942190	522	29319											
ZNF169	0	.	GRCh38	chr9	94300403	94300403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccctctccatacaccagaGgaagcactcgggggagaagc	11	5	11	14	1	1	2	0	0	1	2	4	4	2	3	3	3	3	1	3	3	3	1			C3N-02089_TP	C3N-02089_NB	G	G																c.845G>C	p.Arg282Thr	p.R282T	ENST00000395395	5/5	253	177	76	318	318	0	strelka-varscan-mutect	ZNF169,missense_variant,p.Arg282Thr,ENST00000395395,NM_003448.2,NM_194320.3,NM_001301275.1;ZNF169,3_prime_UTR_variant,,ENST00000340911,;ZNF169,downstream_gene_variant,,ENST00000480716,;	C	ENST00000395395	Transcript	missense_variant	935/1986	845/1812	282/603	R/T	aGg/aCg	COSM1111339	1		1	ZNF169	HGNC	HGNC:12957	protein_coding	YES	CCDS6709.2	ENSP00000378792	Q14929		UPI00001C1EC1	NM_003448.2,NM_194320.3,NM_001301275.1	deleterious(0.02)		5/5		Gene3D:3.30.160.60,Pfam_domain:PF13894,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF25,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	2		1	1										PASS		.	.												C	3	2	90	94300403	94300403	G	C	1	0	0	0	0	1	0	0	0	18322	1000	35	4		4	ZNF169	9	94300403	Missense_Mutation	SNP	G	C3N-02089_TP	847876	94300403	44094314	523	29320											
ZNF782	0	.	GRCh38	chr9	96819699	96819699	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctctgtagtcaataatttAttggtgaataaaacttgcaa	14	15	7	5	0	2	1	1	1	1	0	2	1	2	1	0	1	3	3	0	1	8	7	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.324T>C	p.=	p.N108N	ENST00000481138	6/6	89	79	10	108	108	0	strelka-varscan-mutect	ZNF782,synonymous_variant,p.=,ENST00000481138,;ZNF782,synonymous_variant,p.=,ENST00000535338,NM_001001662.1;ZNF782,synonymous_variant,p.=,ENST00000289032,;ZNF782,synonymous_variant,p.=,ENST00000478850,;ZNF782,non_coding_transcript_exon_variant,,ENST00000466833,;	G	ENST00000481138	Transcript	synonymous_variant	986/4213	324/2100	108/699	N	aaT/aaC		1		-1	ZNF782	HGNC	HGNC:33110	protein_coding	YES	CCDS35075.1	ENSP00000419397	Q6ZMW2		UPI00001D76E3				6/6		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF111																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	90	96819699	96819699	A	G	1	0	0	0	0	0	0	0	1	18738	446	16	5		5	ZNF782	9	96819699	Silent	SNP	A	C3N-02089_TP	2519296	96819699	41575018	524	29321											
AKAP2	0	.	GRCh38	chr9	110156391	110156391	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagcctgacttagcccCtgaagaggctgccggaaccc	8	7	11	15	1	0	3	0	2	0	1	0	4	0	4	5	2	5	2	5	2	3	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.3068C>G	p.Pro1023Arg	p.P1023R	ENST00000374530	9/11	127	96	31	123	123	0	strelka-varscan-mutect	PALM2-AKAP2,missense_variant,p.Pro1023Arg,ENST00000374530,NM_007203.4;AKAP2,missense_variant,p.Pro881Arg,ENST00000374525,NM_001004065.4;PALM2-AKAP2,missense_variant,p.Pro1023Arg,ENST00000302798,NM_147150.2;AKAP2,missense_variant,p.Pro881Arg,ENST00000434623,NM_001198656.1;AKAP2,missense_variant,p.Pro792Arg,ENST00000259318,NM_001136562.2;AKAP2,non_coding_transcript_exon_variant,,ENST00000485762,;AKAP2,intron_variant,,ENST00000482335,;AKAP2,3_prime_UTR_variant,,ENST00000495980,;	G	ENST00000374530	Transcript	missense_variant	3248/7507	3068/3312	1023/1103	P/R	cCt/cGt		1		1	PALM2-AKAP2	HGNC	HGNC:33529	protein_coding	YES	CCDS35100.1	ENSP00000363654			UPI0000125755	NM_007203.4	deleterious(0.01)		9/11		Pfam_domain:PF15304,hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF10																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	90	110156391	110156391	C	G	1	0	0	0	0	1	0	0	0	535	681	24	4		4	AKAP2	9	110156391	Missense_Mutation	SNP	C	C3N-02089_TP	13336692	110156391	28238326	525	29322											
MUSK	0	.	GRCh38	chr9	110668920	110668920	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcatgagagagctcgtcAacattccactggtacatatt	13	12	7	9	1	2	2	2	1	0	1	4	3	3	2	1	1	3	2	1	1	4	5	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.16A>T	p.Asn6Tyr	p.N6Y	ENST00000374448	1/15	143	102	41	124	124	0	strelka-varscan-mutect	MUSK,missense_variant,p.Asn6Tyr,ENST00000416899,;MUSK,missense_variant,p.Asn6Tyr,ENST00000374448,NM_005592.3;MUSK,missense_variant,p.Asn6Tyr,ENST00000189978,NM_001166281.1,NM_001166280.1;MUSK,missense_variant,p.Asn6Tyr,ENST00000374440,;	T	ENST00000374448	Transcript	missense_variant	150/2754	16/2610	6/869	N/Y	Aac/Tac		1		1	MUSK	HGNC	HGNC:7525	protein_coding	YES	CCDS48005.1	ENSP00000363571	O15146		UPI000006D2F7	NM_005592.3	tolerated_low_confidence(0.2)		1/15																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	110668920	110668920	A	T	1	0	0	0	0	1	0	0	0	9987	130	5	4		4	MUSK	9	110668920	Missense_Mutation	SNP	A	C3N-02089_TP	512529	110668920	27725797	526	29323											
RGS3	0	.	GRCh38	chr9	113514653	113514653	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttccctgtctttgttcAggtgagcccgtggctggtct	2	15	14	10	1	3	1	1	1	2	0	4	1	4	1	2	4	1	3	2	4	0	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1673A>T	p.Gln558Leu	p.Q558L	ENST00000374140	16/26	90	61	29	75	75	0	strelka-varscan-mutect	RGS3,missense_variant,p.Gln558Leu,ENST00000374140,NM_144488.5;RGS3,missense_variant,p.Gln558Leu,ENST00000350696,NM_001282923.1;RGS3,missense_variant,p.Gln277Leu,ENST00000343817,NM_130795.3;RGS3,missense_variant,p.Gln277Leu,ENST00000394646,NM_001276261.1;RGS3,missense_variant,p.Gln446Leu,ENST00000317613,NM_017790.4;RGS3,missense_variant,p.Gln184Leu,ENST00000374136,NM_001322214.1;RGS3,upstream_gene_variant,,ENST00000496113,;RGS3,splice_region_variant,,ENST00000478599,;RGS3,upstream_gene_variant,,ENST00000460000,;	T	ENST00000374140	Transcript	missense_variant,splice_region_variant	1882/4591	1673/3597	558/1198	Q/L	cAg/cTg		1		1	RGS3	HGNC	HGNC:9999	protein_coding	YES	CCDS43869.1	ENSP00000363255	P49796		UPI00001C0F58	NM_144488.5	deleterious(0)		16/26		Superfamily_domains:SSF50729																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	90	113514653	113514653	A	T	1	0	0	0	0	1	0	0	0	13477	202	7	4		4	RGS3	9	113514653	Missense_Mutation	SNP	A	C3N-02089_TP	2845733	113514653	24880064	527	29324											
ORM2	0	.	GRCh38	chr9	114330794	114330794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctggttgactttagccAgaaccagtgcttctataact	9	14	7	11	0	2	2	0	1	2	1	2	2	2	2	3	1	4	2	3	1	4	7	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.260A>G	p.Gln87Arg	p.Q87R	ENST00000431067	3/6	164	121	43	146	145	1	strelka-varscan-mutect	ORM2,missense_variant,p.Gln87Arg,ENST00000431067,NM_000608.2;AKNA,downstream_gene_variant,,ENST00000307564,NM_030767.4;ORM1,downstream_gene_variant,,ENST00000259396,NM_000607.2;	G	ENST00000431067	Transcript	missense_variant,splice_region_variant	296/760	260/606	87/201	Q/R	cAg/cGg		1		1	ORM2	HGNC	HGNC:8499	protein_coding	YES	CCDS6804.1	ENSP00000394936	P19652		UPI0000052DC9	NM_000608.2	tolerated(0.32)		3/6		hmmpanther:PTHR11967,hmmpanther:PTHR11967:SF2,Gene3D:2.40.128.20,PIRSF_domain:PIRSF036899,Pfam_domain:PF00061,Superfamily_domains:SSF50814,Prints_domain:PR00708																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	114330794	114330794	A	G	1	0	0	0	0	1	0	0	0	11334	202	7	5		5	ORM2	9	114330794	Missense_Mutation	SNP	A	C3N-02089_TP	816141	114330794	24063923	528	29325											
TNC	0	.	GRCh38	chr9	115085934	115085934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacgcattgtcctaagttGttgcagtcactggggcagga	9	10	14	8	1	1	1	1	0	0	1	2	3	2	2	1	3	1	5	1	3	1	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1797C>T	p.=	p.N599N	ENST00000350763	3/28	130	103	27	145	145	0	strelka-varscan-mutect	TNC,synonymous_variant,p.=,ENST00000350763,NM_002160.3;TNC,synonymous_variant,p.=,ENST00000535648,;TNC,synonymous_variant,p.=,ENST00000341037,;TNC,synonymous_variant,p.=,ENST00000423613,;TNC,synonymous_variant,p.=,ENST00000542877,;TNC,synonymous_variant,p.=,ENST00000537320,;TNC,downstream_gene_variant,,ENST00000534839,;	A	ENST00000350763	Transcript	synonymous_variant	2209/7641	1797/6606	599/2201	N	aaC/aaT		1		-1	TNC	HGNC	HGNC:5318	protein_coding	YES	CCDS6811.1	ENSP00000265131	P24821		UPI000013D5BD	NM_002160.3			3/28		hmmpanther:PTHR19143:SF38,hmmpanther:PTHR19143,Gene3D:2gy5A03,SMART_domains:SM00181,PD936484																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	115085934	115085934	G	A	1	0	0	0	0	0	0	0	1	16744	1368	48	3		3	TNC	9	115085934	Silent	SNP	G	C3N-02089_TP	755140	115085934	23308783	529	29326											
TNC	0	.	GRCh38	chr9	115086320	115086320	+	Missense_Mutation	SNP	G	G	A																															gtgctggtgacagtcattagGgcagctcatgtcactgcagt																										C3N-02089_TP	C3N-02089_NB	G	G																c.1411C>T	p.Pro471Ser	p.P471S	ENST00000350763	3/28	340	257	83	370	370	0	strelka-varscan-mutect	TNC,missense_variant,p.Pro471Ser,ENST00000350763,NM_002160.3;TNC,missense_variant,p.Pro471Ser,ENST00000535648,;TNC,missense_variant,p.Pro471Ser,ENST00000341037,;TNC,missense_variant,p.Pro471Ser,ENST00000423613,;TNC,missense_variant,p.Pro471Ser,ENST00000542877,;TNC,missense_variant,p.Pro471Ser,ENST00000537320,;TNC,downstream_gene_variant,,ENST00000534839,;	A	ENST00000350763	Transcript	missense_variant	1823/7641	1411/6606	471/2201	P/S	Cct/Tct	COSM249749	1		-1	TNC	HGNC	HGNC:5318	protein_coding	YES	CCDS6811.1	ENSP00000265131	P24821		UPI000013D5BD	NM_002160.3	deleterious(0)		3/28		PROSITE_profiles:PS50026,hmmpanther:PTHR19143:SF38,hmmpanther:PTHR19143,Pfam_domain:PF07974,Gene3D:2gy5A03,SMART_domains:SM00181											1						MODERATE	1	SNV	1		1	1										PASS		rs1271606129	.												A	3	1	90	115086320	115086320	G	A	1	0	0	0	0	1	0	0	0	16744	1232	43	3		3	TNC	9	115086320	Missense_Mutation	SNP	G	C3N-02089_TP	386	115086320	23308397	530	29327	610	2									
TNC	0	.	GRCh38	chr9	115086321	115086321	+	Nonsense_Mutation	SNP	G	G	T																															tgctggtgacagtcattaggGcagctcatgtcactgcagtc																								rs770937733		C3N-02089_TP	C3N-02089_NB	G	G																c.1410C>A	p.Cys470Ter	p.C470*	ENST00000350763	3/28	340	259	81	372	372	0	strelka-varscan-mutect	TNC,stop_gained,p.Cys470Ter,ENST00000350763,NM_002160.3;TNC,stop_gained,p.Cys470Ter,ENST00000535648,;TNC,stop_gained,p.Cys470Ter,ENST00000341037,;TNC,stop_gained,p.Cys470Ter,ENST00000423613,;TNC,stop_gained,p.Cys470Ter,ENST00000542877,;TNC,stop_gained,p.Cys470Ter,ENST00000537320,;TNC,downstream_gene_variant,,ENST00000534839,;	T	ENST00000350763	Transcript	stop_gained	1822/7641	1410/6606	470/2201	C/*	tgC/tgA	rs770937733	1		-1	TNC	HGNC	HGNC:5318	protein_coding	YES	CCDS6811.1	ENSP00000265131	P24821		UPI000013D5BD	NM_002160.3			3/28		PROSITE_profiles:PS50026,hmmpanther:PTHR19143:SF38,hmmpanther:PTHR19143,Pfam_domain:PF07974,Gene3D:2gy5A03,SMART_domains:SM00181																	HIGH	1	SNV	1			1										PASS		rs770937733	.												T	4	4	90	115086321	115086321	G	T	1	0	0	0	0	0	1	0	0	16744	1195	42	2		2	TNC	9	115086321	Nonsense_Mutation	SNP	G	C3N-02089_TP	1	115086321	23308396	531	29328	610	2									
TNC	0	.	GRCh38	chr9	115090861	115090861	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggcagcttgatgttgtaaAcgtggttaaacaccactggc	10	11	11	9	1	0	1	0	1	0	0	0	1	0	1	1	3	3	5	1	3	4	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.158T>A	p.Val53Asp	p.V53D	ENST00000350763	2/28	464	332	132	454	453	1	strelka-varscan-mutect	TNC,missense_variant,p.Val53Asp,ENST00000350763,NM_002160.3;TNC,missense_variant,p.Val53Asp,ENST00000535648,;TNC,missense_variant,p.Val53Asp,ENST00000341037,;TNC,missense_variant,p.Val53Asp,ENST00000423613,;TNC,missense_variant,p.Val53Asp,ENST00000542877,;TNC,missense_variant,p.Val53Asp,ENST00000537320,;TNC,missense_variant,p.Val53Asp,ENST00000534839,;	T	ENST00000350763	Transcript	missense_variant	570/7641	158/6606	53/2201	V/D	gTt/gAt		1		-1	TNC	HGNC	HGNC:5318	protein_coding	YES	CCDS6811.1	ENSP00000265131	P24821		UPI000013D5BD	NM_002160.3	deleterious(0)		2/28																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	115090861	115090861	A	T	1	0	0	0	0	1	0	0	0	16744	43	2	4		4	TNC	9	115090861	Missense_Mutation	SNP	A	C3N-02089_TP	4540	115090861	23303856	532	29329											
PAPPA	0	.	GRCh38	chr9	116227517	116227517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccccaatgccctgcaGcccatcaggacactggagcc	8	7	8	18	0	1	0	1	0	0	0	3	2	3	2	6	2	4	1	6	2	1	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2198G>T	p.Ser733Ile	p.S733I	ENST00000328252	6/22	247	201	46	218	218	0	strelka-varscan-mutect	PAPPA,missense_variant,p.Ser733Ile,ENST00000328252,NM_002581.3;	T	ENST00000328252	Transcript	missense_variant	2567/10959	2198/4884	733/1627	S/I	aGc/aTc		1		1	PAPPA	HGNC	HGNC:8602	protein_coding	YES	CCDS6813.1	ENSP00000330658	Q13219		UPI00001E0589	NM_002581.3	deleterious(0)		6/22		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	116227517	116227517	G	T	1	0	0	0	0	1	0	0	0	11512	971	34	2		2	PAPPA	9	116227517	Missense_Mutation	SNP	G	C3N-02089_TP	1136656	116227517	22167200	533	29330											
OR1J1	0	.	GRCh38	chr9	122477414	122477414	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtagtgagggatgatgtgGtcagcacagaaggaaagctg	14	7	16	4	0	1	3	1	2	0	1	1	5	1	5	0	3	2	3	0	3	4	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.513C>G	p.Asp171Glu	p.D171E	ENST00000259357	1/1	280	220	60	242	242	0	strelka-varscan-mutect	OR1J1,missense_variant,p.Asp171Glu,ENST00000259357,NM_001004451.1;RP11-542K23.9,downstream_gene_variant,,ENST00000412262,;	C	ENST00000259357	Transcript	missense_variant	513/969	513/969	171/322	D/E	gaC/gaG		1		-1	OR1J1	HGNC	HGNC:8208	protein_coding	YES	CCDS35120.1	ENSP00000259357	Q8NGS3	A0A126GWP9	UPI0000061E79	NM_001004451.1	tolerated_low_confidence(0.05)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF213,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												C	3	2	90	122477414	122477414	G	C	1	0	0	0	0	1	0	0	0	11037	1252	44	4		4	OR1J1	9	122477414	Missense_Mutation	SNP	G	C3N-02089_TP	6249897	122477414	15917303	534	29331											
OR1J1	0	.	GRCh38	chr9	122477628	122477628	+	Frame_Shift_Del	DEL	T	T	-																															aaaatatgaaaaaatatgtcTgtgaaatgcatcccttgtaa																								novel		C3N-02089_TP	C3N-02089_NB	T	T																c.299delA	p.Gln100ArgfsTer11	p.Q100Rfs*11	ENST00000259357	1/1	222	176	46	222	222	0	sindel-varindel-pindel	OR1J1,frameshift_variant,p.Gln100ArgfsTer11,ENST00000259357,NM_001004451.1;RP11-542K23.9,downstream_gene_variant,,ENST00000412262,;	-	ENST00000259357	Transcript	frameshift_variant	299/969	299/969	100/322	Q/X	cAg/cg		1		-1	OR1J1	HGNC	HGNC:8208	protein_coding	YES	CCDS35120.1	ENSP00000259357	Q8NGS3	A0A126GWP9	UPI0000061E79	NM_001004451.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF213,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	HIGH		deletion				1										PASS		.	.												-	7	5	90	122477628	122477628	T	-	1	0	1	0	1	0	0	0	0	11037	1580	55	0		0	OR1J1	9	122477628	Frame_Shift_Del	DEL	T	C3N-02089_TP	214	122477628	15917089	535	29332											
OR1J4	0	.	GRCh38	chr9	122519481	122519481	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgatctagacaatttccTtctcacttcaatggcatacg	11	13	5	12	1	3	2	2	1	2	1	5	2	4	2	1	1	1	1	1	1	4	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.341T>G	p.Leu114Arg	p.L114R	ENST00000340750	1/1	193	154	39	182	181	1	strelka-varscan-mutect	OR1J4,missense_variant,p.Leu114Arg,ENST00000340750,NM_001004452.1;	G	ENST00000340750	Transcript	missense_variant	341/942	341/942	114/313	L/R	cTt/cGt		1		1	OR1J4	HGNC	HGNC:8211	protein_coding	YES	CCDS35122.1	ENSP00000343521	Q8NGS1	A0A126GW06	UPI0000041D07	NM_001004452.1	deleterious_low_confidence(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF207,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1297884035	.												G	3	3	90	122519481	122519481	T	G	1	0	0	0	0	1	0	0	0	11039	1609	56	5		5	OR1J4	9	122519481	Missense_Mutation	SNP	T	C3N-02089_TP	41853	122519481	15875236	536	29333											
OR1L1	0	.	GRCh38	chr9	122662071	122662071	+	Missense_Mutation	SNP	C	C	A																															ttacctgctagcagccatggCcattgaccgctatgtggcca																								novel		C3N-02089_TP	C3N-02089_NB	C	C																c.356C>A	p.Ala119Asp	p.A119D	ENST00000309623	1/1	202	160	42	163	163	0	strelka-varscan-mutect	OR1L1,missense_variant,p.Ala169Asp,ENST00000373686,;OR1L1,missense_variant,p.Ala119Asp,ENST00000309623,NM_001005236.3;	A	ENST00000309623	Transcript	missense_variant	356/933	356/933	119/310	A/D	gCc/gAc		1		1	OR1L1	HGNC	HGNC:8213	protein_coding	YES	CCDS35127.2	ENSP00000310773		A0A0B4J1S0	UPI0000041E03	NM_001005236.3	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF39,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	90	122662071	122662071	C	A	1	0	0	0	0	1	0	0	0	11041	739	26	2		2	OR1L1	9	122662071	Missense_Mutation	SNP	C	C3N-02089_TP	142590	122662071	15732646	537	29334	611	2									
OR1L1	0	.	GRCh38	chr9	122662072	122662072	+	Silent	SNP	C	C	A																															tacctgctagcagccatggcCattgaccgctatgtggccat																								rs761969090		C3N-02089_TP	C3N-02089_NB	C	C																c.357C>A	p.=	p.A119A	ENST00000309623	1/1	200	158	42	162	162	0	strelka-varscan-mutect	OR1L1,synonymous_variant,p.=,ENST00000373686,;OR1L1,synonymous_variant,p.=,ENST00000309623,NM_001005236.3;	A	ENST00000309623	Transcript	synonymous_variant	357/933	357/933	119/310	A	gcC/gcA	rs761969090	1		1	OR1L1	HGNC	HGNC:8213	protein_coding	YES	CCDS35127.2	ENSP00000310773		A0A0B4J1S0	UPI0000041E03	NM_001005236.3			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF39,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		rs761969090	.												A	2	1	90	122662072	122662072	C	A	1	0	0	0	0	0	0	0	1	11041	581	21	2		2	OR1L1	9	122662072	Silent	SNP	C	C3N-02089_TP	1	122662072	15732645	538	29335	611	2									
CERCAM	0	.	GRCh38	chr9	128435835	128435835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctcccaaaagaccctgcGcagcccccgcctggacctga	8	4	10	19	3	0	2	0	1	0	1	1	3	1	3	6	2	2	2	6	2	2	0	rs768275632		C3N-02089_TP	C3N-02089_NB	G	G																c.1718G>A	p.Arg573His	p.R573H	ENST00000372838	12/13	292	214	78	195	195	0	strelka-varscan-mutect	CERCAM,missense_variant,p.Arg495His,ENST00000372842,NM_001286760.1;CERCAM,missense_variant,p.Arg573His,ENST00000372838,NM_016174.4;CERCAM,missense_variant,p.Arg495His,ENST00000612334,;CERCAM,5_prime_UTR_variant,,ENST00000613052,;RP11-339B21.10,downstream_gene_variant,,ENST00000610052,;CERCAM,downstream_gene_variant,,ENST00000487001,;CERCAM,downstream_gene_variant,,ENST00000472858,;CERCAM,downstream_gene_variant,,ENST00000463535,;	A	ENST00000372838	Transcript	missense_variant	2116/2685	1718/1788	573/595	R/H	cGc/cAc	rs768275632	1		1	CERCAM	HGNC	HGNC:23723	protein_coding	YES	CCDS6901.2	ENSP00000361929	Q5T4B2		UPI000046FF85	NM_016174.4	tolerated(0.07)		12/13																			MODERATE	1	SNV	1			1										PASS		rs768275632	.												A	3	1	90	128435835	128435835	G	A	1	0	0	0	0	1	0	0	0	2992	1087	38	1		1	CERCAM	9	128435835	Missense_Mutation	SNP	G	C3N-02089_TP	5773763	128435835	9958882	539	29336											
C9orf78	0	.	GRCh38	chr9	129829254	129829254	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actctcaagggccgggccttGggctcttctttgtttctccg	3	14	11	13	2	4	0	1	0	4	0	6	0	4	0	3	3	0	2	3	3	1	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.729C>A	p.=	p.P243P	ENST00000372447	8/9	122	89	33	108	108	0	strelka-varscan-mutect	C9orf78,synonymous_variant,p.=,ENST00000372447,NM_016520.2;C9orf78,non_coding_transcript_exon_variant,,ENST00000461762,;C9orf78,non_coding_transcript_exon_variant,,ENST00000480023,;C9orf78,non_coding_transcript_exon_variant,,ENST00000461349,;C9orf78,downstream_gene_variant,,ENST00000461539,;C9orf78,downstream_gene_variant,,ENST00000492991,;C9orf78,downstream_gene_variant,,ENST00000495934,;	T	ENST00000372447	Transcript	synonymous_variant	783/1795	729/870	243/289	P	ccC/ccA		1		-1	C9orf78	HGNC	HGNC:24932	protein_coding	YES	CCDS6931.1	ENSP00000361524	Q9NZ63		UPI000006F0CA	NM_016520.2			8/9		hmmpanther:PTHR13486:SF2,hmmpanther:PTHR13486																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	129829254	129829254	G	T	1	0	0	0	0	0	0	0	1	2191	1335	47	2		2	C9orf78	9	129829254	Silent	SNP	G	C3N-02089_TP	1393419	129829254	8565463	540	29337											
HMCN2	0	.	GRCh38	chr9	130393973	130393973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtggccgtgagcgaggcggGggaagccaggaggcatttcc	7	6	19	9	3	0	1	0	1	0	0	1	4	1	3	3	6	2	1	3	6	1	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.10463G>T	p.Gly3488Val	p.G3488V	ENST00000624552	68/98	115	89	26	77	77	0	strelka-varscan-mutect	HMCN2,missense_variant,p.Gly3488Val,ENST00000624552,NM_001291815.1;HMCN2,3_prime_UTR_variant,,ENST00000487727,;HMCN2,upstream_gene_variant,,ENST00000480829,;	T	ENST00000624552	Transcript	missense_variant	10463/15610	10463/15180	3488/5059	G/V	gGg/gTg		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	deleterious(0)		68/98		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	130393973	130393973	G	T	1	0	0	0	0	1	0	0	0	7112	1232	43	2		2	HMCN2	9	130393973	Missense_Mutation	SNP	G	C3N-02089_TP	564719	130393973	8000744	541	29338											
CEL	0	.	GRCh38	chr9	133067172	133067172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatccccgagccctgacgCtggcctataaggtgccgctg	6	8	12	15	3	0	2	0	2	0	0	1	3	1	2	5	2	2	2	5	2	2	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.871C>A	p.Leu291Met	p.L291M	ENST00000372080	7/11	486	430	56	352	352	0	strelka-varscan-mutect	CEL,missense_variant,p.Leu291Met,ENST00000372080,NM_001807.4;CEL,intron_variant,,ENST00000621209,;	A	ENST00000372080	Transcript	missense_variant	887/2384	871/2271	291/756	L/M	Ctg/Atg		1		1	CEL	HGNC	HGNC:1848	protein_coding	YES	CCDS43896.1	ENSP00000361151		X6R868	UPI000013E8C6	NM_001807.4	tolerated(0.16)		7/11		hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF139,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	133067172	133067172	C	A	1	0	0	0	0	1	0	0	0	2916	796	28	2		2	CEL	9	133067172	Missense_Mutation	SNP	C	C3N-02089_TP	2673199	133067172	5327545	542	29339											
CEL	0	.	GRCh38	chr9	133067183	133067183	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgacgctggcctataaGgtgccgctggcaggcctgga	6	7	15	13	2	0	1	0	1	0	0	0	2	0	2	4	5	1	3	4	5	2	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.882G>C	p.Lys294Asn	p.K294N	ENST00000372080	7/11	429	387	42	339	339	0	strelka-varscan-mutect	CEL,missense_variant,p.Lys294Asn,ENST00000372080,NM_001807.4;CEL,intron_variant,,ENST00000621209,;	C	ENST00000372080	Transcript	missense_variant	898/2384	882/2271	294/756	K/N	aaG/aaC		1		1	CEL	HGNC	HGNC:1848	protein_coding	YES	CCDS43896.1	ENSP00000361151		X6R868	UPI000013E8C6	NM_001807.4	tolerated(0.06)		7/11		hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF139,Pfam_domain:PF00135,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474																	MODERATE	1	SNV	5			1										PASS		rs1189955377	.												C	3	2	90	133067183	133067183	G	C	1	0	0	0	0	1	0	0	0	2916	991	35	4		4	CEL	9	133067183	Missense_Mutation	SNP	G	C3N-02089_TP	11	133067183	5327534	543	29340											
TMEM8C	0	.	GRCh38	chr9	133520278	133520278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaagccgggtccattgcagGcatggtggagctgccagaaa	11	6	14	10	1	0	1	0	0	0	1	1	2	1	2	3	4	4	3	3	4	2	1			C3N-02089_TP	C3N-02089_NB	G	G																c.146C>T	p.Ala49Val	p.A49V	ENST00000339996	2/5	173	133	40	123	123	0	strelka-varscan-mutect	TMEM8C,missense_variant,p.Ala49Val,ENST00000339996,NM_001080483.2;TMEM8C,non_coding_transcript_exon_variant,,ENST00000413714,;	A	ENST00000339996	Transcript	missense_variant	248/818	146/666	49/221	A/V	gCc/gTc	COSM285822	1		-1	TMEM8C	HGNC	HGNC:33778	protein_coding	YES	CCDS35170.1	ENSP00000419712	A6NI61		UPI00003676C5	NM_001080483.2	deleterious(0.02)		2/5		Transmembrane_helices:TMhelix,hmmpanther:PTHR14319,hmmpanther:PTHR14319:SF5,Pfam_domain:PF12036											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	90	133520278	133520278	G	A	1	0	0	0	0	1	0	0	0	16693	1203	42	3		3	TMEM8C	9	133520278	Missense_Mutation	SNP	G	C3N-02089_TP	453095	133520278	4874439	544	29341											
ADAMTSL2	0	.	GRCh38	chr9	133569476	133569476	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaccagcgacggacgggtAgtacctgagtcccagtgcca	11	5	13	12	3	0	2	0	1	0	1	1	4	1	3	4	2	3	2	4	2	3	2	rs1064975		C3N-02089_TP	C3N-02089_NB	A	A																c.2313A>T	p.=	p.V771V	ENST00000354484	16/19	359	281	78	263	263	0	strelka-varscan-mutect	ADAMTSL2,synonymous_variant,p.=,ENST00000393061,;ADAMTSL2,synonymous_variant,p.=,ENST00000354484,NM_001145320.1;ADAMTSL2,synonymous_variant,p.=,ENST00000393060,NM_014694.3;	T	ENST00000354484	Transcript	synonymous_variant	2870/4068	2313/2856	771/951	V	gtA/gtT	rs1064975,COSM5469071,COSM5469072	1		1	ADAMTSL2	HGNC	HGNC:14631	protein_coding	YES	CCDS6976.1	ENSP00000346478	Q86TH1		UPI000018CEA2	NM_001145320.1			16/19		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF147,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs1064975	.												T	2	4	90	133569476	133569476	A	T	1	0	0	0	0	0	0	0	1	319	407	15	4		4	ADAMTSL2	9	133569476	Silent	SNP	A	C3N-02089_TP	49198	133569476	4825241	545	29342											
COL5A1	0	.	GRCh38	chr9	134806217	134806217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggggagagaggtccagctgGagccgctgggcccatcggaa	9	4	18	10	2	0	1	0	0	0	1	2	5	1	4	3	6	2	2	3	6	1	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.3287G>C	p.Gly1096Ala	p.G1096A	ENST00000371817	42/66	262	221	41	216	216	0	strelka-varscan-mutect	COL5A1,missense_variant,p.Gly1096Ala,ENST00000371817,NM_000093.4;COL5A1,missense_variant,p.Gly1096Ala,ENST00000618395,NM_001278074.1;COL5A1,upstream_gene_variant,,ENST00000463925,;	C	ENST00000371817	Transcript	missense_variant	3701/8471	3287/5517	1096/1838	G/A	gGa/gCa		1		1	COL5A1	HGNC	HGNC:2209	protein_coding	YES	CCDS6982.1	ENSP00000360882	P20908	A0A024R8E5	UPI0000210EE3	NM_000093.4	deleterious(0)		42/66		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF387,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	134806217	134806217	G	C	1	0	0	0	0	1	0	0	0	3485	1174	41	4		4	COL5A1	9	134806217	Missense_Mutation	SNP	G	C3N-02089_TP	1236741	134806217	3588500	546	29343											
LCN9	0	.	GRCh38	chr9	135663417	135663417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaactacaacgtggccagGgtgtgtctgcgttggggtct	7	10	16	8	2	2	0	0	0	2	0	2	1	2	1	1	5	4	1	1	5	3	2	rs757343312		C3N-02089_TP	C3N-02089_NB	G	G																c.96G>T	p.Arg32Ser	p.R32S	ENST00000277526	1/7	223	180	43	164	163	1	strelka-varscan-mutect	LCN9,missense_variant,p.Arg32Ser,ENST00000277526,NM_001001676.1;LCN9,missense_variant,p.Arg32Ser,ENST00000619315,;LCN9,splice_region_variant,,ENST00000430290,;LCN9,upstream_gene_variant,,ENST00000554343,;	T	ENST00000277526	Transcript	missense_variant,splice_region_variant	96/531	96/531	32/176	R/S	agG/agT	rs757343312	1		1	LCN9	HGNC	HGNC:17442	protein_coding	YES	CCDS56593.1	ENSP00000277526	Q8WX39	V9HWI8	UPI00003779EE	NM_001001676.1	deleterious(0)		1/7		Gene3D:2.40.128.20,PROSITE_patterns:PS00213,hmmpanther:PTHR11430,hmmpanther:PTHR11430:SF28,Superfamily_domains:SSF50814																	MODERATE	1	SNV	5			1										PASS		rs757343312	.												T	3	4	90	135663417	135663417	G	T	1	0	0	0	0	1	0	0	0	8593	1246	43	2		2	LCN9	9	135663417	Missense_Mutation	SNP	G	C3N-02089_TP	857200	135663417	2731300	547	29344											
LHX3	0	.	GRCh38	chr9	136205003	136205003	+	Frame_Shift_Del	DEL	C	C	-																															gtcgcgctcgagccccgtttCcagcagcatcgcggccacca																								novel		C3N-02089_TP	C3N-02089_NB	C	C																c.10delG	p.Glu4LysfsTer169	p.E4Kfs*169	ENST00000371748	1/6	186	149	37	152	152	0	sindel-varindel-pindel	LHX3,frameshift_variant,p.Glu4LysfsTer169,ENST00000371748,NM_178138.4;QSOX2,downstream_gene_variant,,ENST00000358701,NM_181701.3;LHX3,upstream_gene_variant,,ENST00000619587,;LHX3,upstream_gene_variant,,ENST00000371746,NM_014564.3;	-	ENST00000371748	Transcript	frameshift_variant	107/2365	10/1194	4/397	E/X	Gaa/aa		1		-1	LHX3	HGNC	HGNC:6595	protein_coding		CCDS6994.1	ENSP00000360813	Q9UBR4	F1T0D5	UPI000012E65D	NM_178138.4			1/6																			HIGH		deletion	1			1										PASS		.	.												-	7	5	90	136205003	136205003	C	-	1	0	1	0	1	0	0	0	0	8681	864	30	0		0	LHX3	9	136205003	Frame_Shift_Del	DEL	C	C3N-02089_TP	541586	136205003	2189714	548	29345											
QSOX2	0	.	GRCh38	chr9	136219052	136219052	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaattctctccaaaccaCgatttctgaattttcttctt	10	17	3	11	1	5	1	1	1	4	0	7	2	6	1	2	0	1	0	2	0	3	6	rs781540198		C3N-02089_TP	C3N-02089_NB	C	C																c.934G>T	p.Val312Leu	p.V312L	ENST00000358701	7/12	163	122	41	122	121	1	strelka-varscan-mutect	QSOX2,missense_variant,p.Val312Leu,ENST00000358701,NM_181701.3;QSOX2,missense_variant,p.Val80Leu,ENST00000455222,;	A	ENST00000358701	Transcript	missense_variant	972/4530	934/2097	312/698	V/L	Gtg/Ttg	rs781540198	1		-1	QSOX2	HGNC	HGNC:30249	protein_coding	YES	CCDS35178.1	ENSP00000351536	Q6ZRP7		UPI00004A7AC1	NM_181701.3	tolerated(0.29)		7/12		hmmpanther:PTHR22897,hmmpanther:PTHR22897:SF7																	MODERATE	1	SNV	2			1										PASS		rs781540198	.												A	3	1	90	136219052	136219052	C	A	1	0	0	0	0	1	0	0	0	13039	536	19	1		1	QSOX2	9	136219052	Missense_Mutation	SNP	C	C3N-02089_TP	14049	136219052	2175665	549	29346											
SEC16A	0	.	GRCh38	chr9	136455788	136455788	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgatgccatactccagcCccctcctgagggagaacaag	10	7	9	15	0	0	3	0	2	0	1	3	4	3	3	6	1	4	0	6	1	3	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.5670G>A	p.=	p.G1890G	ENST00000313050	18/30	105	85	20	76	76	0	strelka-varscan-mutect	SEC16A,synonymous_variant,p.=,ENST00000290037,NM_001276418.1;SEC16A,synonymous_variant,p.=,ENST00000313050,NM_014866.1;SEC16A,synonymous_variant,p.=,ENST00000371706,;SEC16A,synonymous_variant,p.=,ENST00000431893,;SEC16A,synonymous_variant,p.=,ENST00000453963,;SEC16A,synonymous_variant,p.=,ENST00000277537,;	T	ENST00000313050	Transcript	synonymous_variant	5744/8806	5670/7074	1890/2357	G	ggG/ggA		1		-1	SEC16A	HGNC	HGNC:29006	protein_coding	YES	CCDS55351.1	ENSP00000325827		J3KNL6	UPI0000F0888B	NM_014866.1			18/30		hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF13																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	136455788	136455788	C	T	1	0	0	0	0	0	0	0	1	14263	637	22	3		3	SEC16A	9	136455788	Silent	SNP	C	C3N-02089_TP	236736	136455788	1938929	550	29347											
ITGA8	0	.	GRCh38	chr10	15672639	15672639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccaaggtaactgtcatCataggaagctggagccactt	12	10	9	10	0	2	0	2	0	0	0	2	2	2	2	2	3	4	2	2	3	5	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.787G>T	p.Asp263Tyr	p.D263Y	ENST00000378076	7/30	139	91	48	110	110	0	strelka-varscan-mutect	ITGA8,missense_variant,p.Asp263Tyr,ENST00000378076,NM_003638.2,NM_001291494.1;	A	ENST00000378076	Transcript	missense_variant	1141/6755	787/3192	263/1063	D/Y	Gat/Tat		1		-1	ITGA8	HGNC	HGNC:6144	protein_coding	YES	CCDS31155.1	ENSP00000367316	P53708		UPI00001D80A0	NM_003638.2,NM_001291494.1	deleterious(0)		7/30		Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,SMART_domains:SM00191,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	15672639	15672639	C	A	1	0	0	0	0	1	0	0	0	7789	826	29	2		2	ITGA8	10	15672639	Missense_Mutation	SNP	C	C3N-02089_TP		15672639	118124783	551	29348											
CUBN	0	.	GRCh38	chr10	16915997	16915997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccaatgctttcaacaacaCcactttgccctggtactctt	9	13	5	14	0	2	0	1	0	1	0	3	0	3	0	3	1	5	2	3	1	4	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.7034G>T	p.Gly2345Val	p.G2345V	ENST00000377833	46/67	333	225	108	261	261	0	strelka-varscan-mutect	CUBN,missense_variant,p.Gly2345Val,ENST00000377833,NM_001081.3;	A	ENST00000377833	Transcript	missense_variant	7100/11949	7034/10872	2345/3623	G/V	gGt/gTt		1		-1	CUBN	HGNC	HGNC:2548	protein_coding	YES	CCDS7113.1	ENSP00000367064	O60494		UPI00001AE8F4	NM_001081.3	deleterious(0.01)		46/67		PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF645,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	16915997	16915997	C	A	1	0	0	0	0	1	0	0	0	3861	507	18	2		2	CUBN	10	16915997	Missense_Mutation	SNP	C	C3N-02089_TP	1243358	16915997	116881425	552	29349											
MRC1	0	.	GRCh38	chr10	17823426	17823426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatcgggtttatggagcagGtggaagatctatggaaccac	11	9	15	6	1	1	1	0	0	1	1	2	5	1	5	1	6	2	2	1	6	4	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.414G>T	p.Arg138Ser	p.R138S	ENST00000569591	2/30	598	509	89	444	444	0	strelka-varscan-mutect	MRC1,missense_variant,p.Arg138Ser,ENST00000569591,NM_002438.3;	T	ENST00000569591	Transcript	missense_variant	536/5198	414/4371	138/1456	R/S	agG/agT		1		1	MRC1	HGNC	HGNC:7228	protein_coding	YES	CCDS7123.2	ENSP00000455897	P22897		UPI000012EB9A	NM_002438.3	deleterious(0)		2/30		PROSITE_profiles:PS50231,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF73,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	17823426	17823426	G	T	1	0	0	0	0	1	0	0	0	9722	1252	44	2		2	MRC1	10	17823426	Missense_Mutation	SNP	G	C3N-02089_TP	907429	17823426	115973996	553	29350											
MALRD1	0	.	GRCh38	chr10	19607834	19607834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccaacagctgtatccCagcccaccagcgctgtgatg	8	8	8	17	1	0	1	0	1	0	0	3	1	3	1	5	0	4	3	5	0	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.6002C>T	p.Pro2001Leu	p.P2001L	ENST00000454679	35/40	300	204	96	187	187	0	strelka-varscan-mutect	MALRD1,missense_variant,p.Pro2001Leu,ENST00000454679,NM_001142308.2;MALRD1,missense_variant,p.Pro1380Leu,ENST00000377266,;MALRD1,missense_variant,p.Pro352Leu,ENST00000377265,;	T	ENST00000454679	Transcript	missense_variant	6170/6880	6002/6471	2001/2156	P/L	cCa/cTa		1		1	MALRD1	HGNC	HGNC:24331	protein_coding	YES	CCDS73071.1	ENSP00000412763	Q5VYJ5		UPI000387C99A	NM_001142308.2	deleterious(0)		35/40		PROSITE_profiles:PS50068,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF86,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	19607834	19607834	C	T	1	0	0	0	0	1	0	0	0	9121	594	21	3		3	MALRD1	10	19607834	Missense_Mutation	SNP	C	C3N-02089_TP	1784408	19607834	114189588	554	29351											
MLLT10	0	.	GRCh38	chr10	21670518	21670518	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaagatactactgcacgaTttacaaatgcaaatttccag	15	11	7	8	1	0	1	0	0	0	1	1	3	1	2	1	1	5	2	1	1	6	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.865T>C	p.Phe289Leu	p.F289L	ENST00000307729	10/23	286	256	30	243	242	1	strelka-varscan-mutect	MLLT10,missense_variant,p.Phe289Leu,ENST00000377072,NM_004641.3;MLLT10,missense_variant,p.Phe289Leu,ENST00000307729,;MLLT10,missense_variant,p.Phe289Leu,ENST00000631589,;MLLT10,missense_variant,p.Phe289Leu,ENST00000377059,NM_001195626.1;MLLT10,missense_variant,p.Phe29Leu,ENST00000438473,;MLLT10,upstream_gene_variant,,ENST00000420525,;MLLT10,non_coding_transcript_exon_variant,,ENST00000468309,;	C	ENST00000307729	Transcript	missense_variant	1043/5032	865/3207	289/1068	F/L	Ttt/Ctt		1		1	MLLT10	HGNC	HGNC:16063	protein_coding	YES	CCDS55708.1	ENSP00000307411	P55197		UPI00001F8FF7		deleterious(0.01)		10/23		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF93																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	21670518	21670518	T	C	1	0	0	0	0	1	0	0	0	9589	1493	52	5		5	MLLT10	10	21670518	Missense_Mutation	SNP	T	C3N-02089_TP	2062684	21670518	112126904	555	29352											
EBLN1	0	.	GRCh38	chr10	22209136	22209136	+	Frame_Shift_Del	DEL	C	C	-																															taacagggtggcgaagtacaCccccaaattcaaagaaatct																								novel		C3N-02089_TP	C3N-02089_NB	C	C																c.848delG	p.Gly283ValfsTer19	p.G283Vfs*19	ENST00000422359	1/1	235	191	44	183	183	0	sindel-varindel-pindel	EBLN1,frameshift_variant,p.Gly283ValfsTer19,ENST00000422359,NM_001199938.1;	-	ENST00000422359	Transcript	frameshift_variant	886/1208	848/1101	283/366	G/X	gGt/gt		1		-1	EBLN1	HGNC	HGNC:39430	protein_coding	YES	CCDS60498.1	ENSP00000473842	P0CF75		UPI0000199CEF	NM_001199938.1			1/1		Gene3D:1n93X02,Pfam_domain:PF06407,Superfamily_domains:0041272																	HIGH	1	deletion				1										PASS		.	.												-	7	5	90	22209136	22209136	C	-	1	0	1	0	1	0	0	0	0	4709	507	18	0		0	EBLN1	10	22209136	Frame_Shift_Del	DEL	C	C3N-02089_TP	538618	22209136	111588286	556	29353											
OTUD1	0	.	GRCh38	chr10	23440216	23440216	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccggtggggacgcggcgcgGaggcccgacccagaggccga	6	1	19	15	7	0	1	0	0	0	1	0	5	0	3	4	7	0	0	4	7	0	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.759G>A	p.=	p.R253R	ENST00000376495	1/1	57	39	18	40	40	0	strelka-varscan-mutect	OTUD1,synonymous_variant,p.=,ENST00000376495,NM_001145373.2;	A	ENST00000376495	Transcript	synonymous_variant	759/2933	759/1446	253/481	R	cgG/cgA		1		1	OTUD1	HGNC	HGNC:27346	protein_coding	YES	CCDS44366.1	ENSP00000365678	Q5VV17		UPI0000458A32	NM_001145373.2			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR12419:SF15,hmmpanther:PTHR12419																	LOW	1	SNV				1										PASS		.	.												A	2	1	90	23440216	23440216	G	A	1	0	0	0	0	0	0	0	1	11381	1161	41	3		3	OTUD1	10	23440216	Silent	SNP	G	C3N-02089_TP	1231080	23440216	110357206	557	29354											
GPR158	0	.	GRCh38	chr10	25175769	25175769	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtggccagccctggccAgcgcgcacccctccttgcac	6	5	12	18	2	0	0	0	0	0	0	1	1	1	1	6	3	3	2	6	3	1	1	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.349A>T	p.Ser117Cys	p.S117C	ENST00000376351	1/11	261	205	56	195	195	0	strelka-varscan-mutect	GPR158,missense_variant,p.Ser117Cys,ENST00000376351,NM_020752.2;GPR158-AS1,non_coding_transcript_exon_variant,,ENST00000449643,;	T	ENST00000376351	Transcript	missense_variant	708/6959	349/3648	117/1215	S/C	Agc/Tgc		1		1	GPR158	HGNC	HGNC:23689	protein_coding	YES	CCDS31166.1	ENSP00000365529	Q5T848		UPI0000199875	NM_020752.2	deleterious(0.02)		1/11		hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546																	MODERATE	1	SNV	1			1										PASS		rs1376410629	.												T	3	4	90	25175769	25175769	A	T	1	0	0	0	0	1	0	0	0	6549	188	7	4		4	GPR158	10	25175769	Missense_Mutation	SNP	A	C3N-02089_TP	1735553	25175769	108621653	558	29355											
GPR158	0	.	GRCh38	chr10	25412320	25412320	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagcctatgtctgcctaccTtgcagggagggctgcccctt	6	10	12	13	0	1	0	0	0	1	0	1	2	1	1	5	2	5	2	5	2	3	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1182T>C	p.=	p.P394P	ENST00000376351	4/11	435	346	89	379	379	0	strelka-varscan-mutect	GPR158,synonymous_variant,p.=,ENST00000376351,NM_020752.2;	C	ENST00000376351	Transcript	synonymous_variant	1541/6959	1182/3648	394/1215	P	ccT/ccC		1		1	GPR158	HGNC	HGNC:23689	protein_coding	YES	CCDS31166.1	ENSP00000365529	Q5T848		UPI0000199875	NM_020752.2			4/11		hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	25412320	25412320	T	C	1	0	0	0	0	0	0	0	1	6549	1596	56	5		5	GPR158	10	25412320	Silent	SNP	T	C3N-02089_TP	236551	25412320	108385102	559	29356											
KIF5B	0	.	GRCh38	chr10	32048463	32048463	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcaggttgaatatatttaCctttaacaatcttctttgca	12	16	5	8	0	2	1	0	1	2	0	2	1	2	1	1	1	4	3	1	1	6	9	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.214+1G>A		p.X72_splice	ENST00000302418		135	125	10	116	116	0	strelka-varscan-mutect	KIF5B,splice_donor_variant,,ENST00000302418,NM_004521.2;	T	ENST00000302418	Transcript	splice_donor_variant	-/5877	214/2892	72/963				1		-1	KIF5B	HGNC	HGNC:6324	protein_coding	YES	CCDS7171.1	ENSP00000307078	P33176	V9HW29	UPI000012DE68	NM_004521.2				2/25																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	90	32048463	32048463	C	T	1	0	0	0	0	0	0	1	0	8171	521	18	3		3	KIF5B	10	32048463	Splice_Site	SNP	C	C3N-02089_TP	6636143	32048463	101748959	560	29357											
ANKRD30A	0	.	GRCh38	chr10	37166624	37166624	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctctgtgagactgtttCacagaaggatgtgtgtttac	9	14	12	6	0	2	2	1	1	1	2	3	5	2	3	0	1	1	2	0	1	2	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1916C>A	p.Ser639Ter	p.S639*	ENST00000361713	19/36	101	81	20	83	83	0	varscan-mutect	ANKRD30A,stop_gained,p.Ser639Ter,ENST00000374660,;ANKRD30A,stop_gained,p.Ser695Ter,ENST00000611781,;ANKRD30A,stop_gained,p.Ser639Ter,ENST00000361713,NM_052997.2;ANKRD30A,intron_variant,,ENST00000602533,;	A	ENST00000361713	Transcript	stop_gained	2015/4405	1916/4026	639/1341	S/*	tCa/tAa		1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2			19/36																			HIGH	1	SNV	5			1										PASS		.	.												A	4	1	90	37166624	37166624	C	A	1	0	0	0	0	0	1	0	0	761	838	29	2		2	ANKRD30A	10	37166624	Nonsense_Mutation	SNP	C	C3N-02089_TP	5118161	37166624	96630798	561	29358											
ANKRD30A	0	.	GRCh38	chr10	37219642	37219642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaacaagataatgtgaaCaaacacactgaacagcagga	21	4	8	8	1	0	3	0	2	0	1	0	5	0	4	0	1	6	1	0	1	7	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.3762C>A	p.Asn1254Lys	p.N1254K	ENST00000361713	34/36	254	187	67	204	204	0	strelka-varscan-mutect	ANKRD30A,missense_variant,p.Asn1373Lys,ENST00000374660,;ANKRD30A,missense_variant,p.Asn1310Lys,ENST00000611781,;ANKRD30A,missense_variant,p.Asn1254Lys,ENST00000602533,;ANKRD30A,missense_variant,p.Asn1254Lys,ENST00000361713,NM_052997.2;	A	ENST00000361713	Transcript	missense_variant	3861/4405	3762/4026	1254/1341	N/K	aaC/aaA		1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2	tolerated(0.13)		34/36		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147,Pfam_domain:PF14915																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	37219642	37219642	C	A	1	0	0	0	0	1	0	0	0	761	477	17	2		2	ANKRD30A	10	37219642	Missense_Mutation	SNP	C	C3N-02089_TP	53018	37219642	96577780	562	29359											
ALOX5	0	.	GRCh38	chr10	45428690	45428690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaacagacccctgcacaCtccagttcctggccgctccc	10	6	6	19	1	0	1	0	0	0	1	3	1	3	1	6	1	2	3	6	1	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.907C>A	p.Leu303Ile	p.L303I	ENST00000374391	7/14	295	251	44	231	230	1	strelka-varscan-mutect	ALOX5,missense_variant,p.Leu303Ile,ENST00000374391,NM_001256153.1,NM_000698.3;ALOX5,missense_variant,p.Leu303Ile,ENST00000542434,NM_001256154.1;ALOX5,3_prime_UTR_variant,,ENST00000612635,;ALOX5,downstream_gene_variant,,ENST00000483623,;	A	ENST00000374391	Transcript	missense_variant	960/2506	907/2025	303/674	L/I	Ctc/Atc		1		1	ALOX5	HGNC	HGNC:435	protein_coding	YES	CCDS7212.1	ENSP00000363512	P09917		UPI0000043F84	NM_001256153.1,NM_000698.3	tolerated(0.42)		7/14		PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF5,hmmpanther:PTHR11771,Gene3D:3.10.450.60,Pfam_domain:PF00305,Superfamily_domains:SSF48484																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	45428690	45428690	C	A	1	0	0	0	0	1	0	0	0	640	565	20	2		2	ALOX5	10	45428690	Missense_Mutation	SNP	C	C3N-02089_TP	8209048	45428690	88368732	563	29360											
ALOX5	0	.	GRCh38	chr10	45443204	45443204	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgggctcctggtgtgggAagccatcaggacgtgagcgc	7	6	17	11	4	1	1	1	1	0	0	2	4	2	3	2	4	2	1	2	4	1	0	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1439A>T	p.Glu480Val	p.E480V	ENST00000374391	10/14	106	93	13	110	110	0	strelka-varscan-mutect	ALOX5,missense_variant,p.Glu480Val,ENST00000374391,NM_001256153.1,NM_000698.3;ALOX5,missense_variant,p.Glu480Val,ENST00000542434,NM_001256154.1;ALOX5,3_prime_UTR_variant,,ENST00000612635,;RP11-67C2.2,downstream_gene_variant,,ENST00000435635,;ALOX5,non_coding_transcript_exon_variant,,ENST00000493336,;ALOX5,upstream_gene_variant,,ENST00000498461,;ALOX5,upstream_gene_variant,,ENST00000481117,;ALOX5,downstream_gene_variant,,ENST00000475300,;	T	ENST00000374391	Transcript	missense_variant	1492/2506	1439/2025	480/674	E/V	gAa/gTa		1		1	ALOX5	HGNC	HGNC:435	protein_coding	YES	CCDS7212.1	ENSP00000363512	P09917		UPI0000043F84	NM_001256153.1,NM_000698.3	tolerated(0.06)		10/14		PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF5,hmmpanther:PTHR11771,Gene3D:1.20.245.10,Pfam_domain:PF00305,Superfamily_domains:SSF48484																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	45443204	45443204	A	T	1	0	0	0	0	1	0	0	0	640	246	9	4		4	ALOX5	10	45443204	Missense_Mutation	SNP	A	C3N-02089_TP	14514	45443204	88354218	564	29361											
ZFAND4	0	.	GRCh38	chr10	45626067	45626067	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcctgcctgccccacGtgtgctctgtaatctatttc	6	13	8	14	1	2	1	0	1	2	0	3	1	2	1	4	0	4	2	4	0	3	3	rs35142284		C3N-02089_TP	C3N-02089_NB	G	G																c.1756C>G	p.Arg586Gly	p.R586G	ENST00000344646	7/10	397	363	34	324	324	0	strelka-varscan-mutect	ZFAND4,missense_variant,p.Arg512Gly,ENST00000374366,NM_001282906.1,NM_001282905.1;ZFAND4,missense_variant,p.Arg586Gly,ENST00000344646,NM_001128324.2,NM_174890.3;ZFAND4,intron_variant,,ENST00000374371,;ZFAND4,non_coding_transcript_exon_variant,,ENST00000374370,;	C	ENST00000344646	Transcript	missense_variant	1972/3241	1756/2184	586/727	R/G	Cgt/Ggt	rs35142284,COSM918291	1		-1	ZFAND4	HGNC	HGNC:23504	protein_coding	YES	CCDS7214.1	ENSP00000339484	Q86XD8	A0A024R7V9	UPI0000161363	NM_001128324.2,NM_174890.3	tolerated(0.33)		7/10													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs35142284	.												C	3	2	90	45626067	45626067	G	C	1	0	0	0	0	1	0	0	0	18206	1145	40	4		4	ZFAND4	10	45626067	Missense_Mutation	SNP	G	C3N-02089_TP	182863	45626067	88171355	565	29362											
RBP3	0	.	GRCh38	chr10	47351224	47351224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggacctggctggtgtggagCccgacatcactgtgcccatg	6	8	15	12	1	1	0	1	0	0	0	1	3	1	2	3	4	2	1	3	4	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2740C>A	p.Pro914Thr	p.P914T	ENST00000584701	1/4	280	235	45	272	270	2	strelka-varscan-mutect	RBP3,missense_variant,p.Pro914Thr,ENST00000584701,NM_002900.2;	A	ENST00000584701	Transcript	missense_variant	2854/4276	2740/3744	914/1247	P/T	Ccc/Acc		1		1	RBP3	HGNC	HGNC:9921	protein_coding	YES	CCDS73119.1	ENSP00000463151	P10745		UPI000012D87A	NM_002900.2	deleterious(0)		1/4		Gene3D:3.90.226.10,Pfam_domain:PF03572,hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF3,SMART_domains:SM00245,Superfamily_domains:SSF52096																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	47351224	47351224	C	A	1	0	0	0	0	1	0	0	0	13325	739	26	2		2	RBP3	10	47351224	Missense_Mutation	SNP	C	C3N-02089_TP	1725157	47351224	86446198	566	29363											
C10orf71	0	.	GRCh38	chr10	49325241	49325241	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaattgccaaggccagaatGgggtgaggatcctgggtttt	9	10	16	6	0	0	2	0	1	0	1	1	4	1	4	3	6	1	1	3	6	3	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2696G>A	p.Trp899Ter	p.W899*	ENST00000374144	3/3	252	200	52	257	257	0	strelka-varscan-mutect	C10orf71,stop_gained,p.Trp899Ter,ENST00000374144,NM_001135196.1;	A	ENST00000374144	Transcript	stop_gained	2984/5230	2696/4308	899/1435	W/*	tGg/tAg		1		1	C10orf71	HGNC	HGNC:26973	protein_coding	YES	CCDS44387.1	ENSP00000363259	Q711Q0		UPI0000161572	NM_001135196.1			3/3		hmmpanther:PTHR33775																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	90	49325241	49325241	G	A	1	0	0	0	0	0	1	0	0	1769	1357	47	3		3	C10orf71	10	49325241	Nonsense_Mutation	SNP	G	C3N-02089_TP	1974017	49325241	84472181	567	29364											
C10orf71	0	.	GRCh38	chr10	49325336	49325336	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacacgtgtgaagtgcatgGccaacgaggtcatggaggac	11	6	15	9	2	1	1	1	1	0	0	1	4	1	3	1	4	2	2	1	4	2	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2791G>C	p.Ala931Pro	p.A931P	ENST00000374144	3/3	240	215	25	199	198	1	strelka-varscan-mutect	C10orf71,missense_variant,p.Ala931Pro,ENST00000374144,NM_001135196.1;	C	ENST00000374144	Transcript	missense_variant	3079/5230	2791/4308	931/1435	A/P	Gcc/Ccc		1		1	C10orf71	HGNC	HGNC:26973	protein_coding	YES	CCDS44387.1	ENSP00000363259	Q711Q0		UPI0000161572	NM_001135196.1	tolerated(0.12)		3/3		hmmpanther:PTHR33775																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	49325336	49325336	G	C	1	0	0	0	0	1	0	0	0	1769	1203	42	4		4	C10orf71	10	49325336	Missense_Mutation	SNP	G	C3N-02089_TP	95	49325336	84472086	568	29365											
A1CF	0	.	GRCh38	chr10	50844015	50844015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatggtataagctcatcCtcaaaaaggtctcggggaag	14	9	10	8	1	3	0	2	0	1	0	5	1	4	1	1	4	1	2	1	4	6	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.231G>T	p.Glu77Asp	p.E77D	ENST00000395489	6/15	319	284	35	276	273	3	strelka-varscan-mutect	A1CF,missense_variant,p.Glu77Asp,ENST00000395489,NM_001198819.1;A1CF,missense_variant,p.Glu77Asp,ENST00000395495,NM_001198820.1;A1CF,missense_variant,p.Glu69Asp,ENST00000282641,NM_001198818.1;A1CF,missense_variant,p.Glu69Asp,ENST00000374001,;A1CF,missense_variant,p.Glu77Asp,ENST00000373995,NM_138933.2;A1CF,missense_variant,p.Glu69Asp,ENST00000373997,NM_014576.3;A1CF,missense_variant,p.Glu69Asp,ENST00000373993,NM_138932.2;A1CF,missense_variant,p.Glu69Asp,ENST00000414883,;A1CF,non_coding_transcript_exon_variant,,ENST00000473480,;	A	ENST00000395489	Transcript	missense_variant	631/9517	231/1809	77/602	E/D	gaG/gaT		1		-1	A1CF	HGNC	HGNC:24086	protein_coding	YES	CCDS73133.1	ENSP00000378868		F8W9F8	UPI0001E92A39	NM_001198819.1	deleterious(0)		6/15		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF313,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Pfam_domain:PF00076,TIGRFAM_domain:TIGR01648,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	2			1										PASS		rs952822363	.												A	3	1	90	50844015	50844015	C	A	1	0	0	0	0	1	0	0	0	2	680	24	2		2	A1CF	10	50844015	Missense_Mutation	SNP	C	C3N-02089_TP	1518679	50844015	82953407	569	29366											
PRKG1	0	.	GRCh38	chr10	52062555	52062555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaaatgtcactcgtgaaGactcaccgagtgaagaccca	14	7	10	10	2	2	4	2	2	0	2	3	5	2	4	2	1	0	1	2	1	4	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.859G>T	p.Asp287Tyr	p.D287Y	ENST00000373980	7/18	99	69	30	97	97	0	strelka-varscan-mutect	PRKG1,missense_variant,p.Asp287Tyr,ENST00000373980,NM_006258.3;PRKG1,missense_variant,p.Asp272Tyr,ENST00000373985,NM_001098512.2;PRKG1,missense_variant,p.Asp60Tyr,ENST00000401604,;PRKG1,missense_variant,p.Asp145Tyr,ENST00000373976,;PRKG1,non_coding_transcript_exon_variant,,ENST00000373975,;	T	ENST00000373980	Transcript	missense_variant	1276/6928	859/2061	287/686	D/Y	Gac/Tac		1		1	PRKG1	HGNC	HGNC:9414	protein_coding	YES	CCDS7244.1	ENSP00000363092	Q13976		UPI000012DDCD	NM_006258.3	tolerated(0.09)		7/18		Gene3D:2.60.120.10,Pfam_domain:PF00027,PIRSF_domain:PIRSF000559,PROSITE_profiles:PS50042,hmmpanther:PTHR24353,hmmpanther:PTHR24353:SF68,SMART_domains:SM00100,Superfamily_domains:SSF51206																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	52062555	52062555	G	T	1	0	0	0	0	1	0	0	0	12655	942	33	2		2	PRKG1	10	52062555	Missense_Mutation	SNP	G	C3N-02089_TP	1218540	52062555	81734867	570	29367											
PCDH15	0	.	GRCh38	chr10	54022911	54022911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctatttgaaggatggtaGtcccagctggcaaattctct	9	13	9	10	0	2	1	0	1	2	0	4	2	3	2	2	3	1	3	2	3	4	4	rs761375285		C3N-02089_TP	C3N-02089_NB	G	G																c.2522C>A	p.Thr841Asn	p.T841N	ENST00000373957	20/35	259	236	23	285	285	0	strelka-varscan-mutect	PCDH15,missense_variant,p.Thr841Asn,ENST00000614895,;PCDH15,missense_variant,p.Thr836Asn,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Thr836Asn,ENST00000414778,;PCDH15,missense_variant,p.Thr841Asn,ENST00000617051,;PCDH15,missense_variant,p.Thr841Asn,ENST00000373957,NM_001142763.1;PCDH15,missense_variant,p.Thr836Asn,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,missense_variant,p.Thr836Asn,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Thr814Asn,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Thr799Asn,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Thr836Asn,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Thr765Asn,ENST00000622048,;PCDH15,missense_variant,p.Thr765Asn,ENST00000437009,NM_001142765.1;PCDH15,missense_variant,p.Thr836Asn,ENST00000617271,NM_001142770.1;PCDH15,missense_variant,p.Thr848Asn,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Thr843Asn,ENST00000395445,;PCDH15,missense_variant,p.Thr836Asn,ENST00000616114,;PCDH15,missense_variant,p.Thr836Asn,ENST00000395438,;PCDH15,missense_variant,p.Thr848Asn,ENST00000612394,;PCDH15,missense_variant,p.Thr841Asn,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Thr447Asn,ENST00000409834,;PCDH15,missense_variant,p.Thr836Asn,ENST00000373955,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	T	ENST00000373957	Transcript	missense_variant	2917/7032	2522/5889	841/1962	T/N	aCt/aAt	rs761375285	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1	tolerated(0.06)		20/35		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		rs761375285	.												T	3	4	90	54022911	54022911	G	T	1	0	0	0	0	1	0	0	0	11598	1029	36	2		2	PCDH15	10	54022911	Missense_Mutation	SNP	G	C3N-02089_TP	1960356	54022911	79774511	571	29368											
MTRNR2L5	0	.	GRCh38	chr10	55599956	55599956	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagtgaaattgacctaccTatgaagaggcgggtataaat	15	9	10	7	1	0	4	0	3	0	1	0	4	0	4	3	2	1	1	3	2	7	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.57T>A	p.=	p.P19P	ENST00000512524	1/1	50	41	9	55	55	0	strelka-varscan-mutect	MTRNR2L5,synonymous_variant,p.=,ENST00000512524,NM_001190478.1;PCDH15,intron_variant,,ENST00000613346,;RP11-168O22.1,upstream_gene_variant,,ENST00000457975,;	A	ENST00000512524	Transcript	synonymous_variant	654/739	57/75	19/24	P	ccT/ccA		1		1	MTRNR2L5	HGNC	HGNC:37162	protein_coding	YES	CCDS53537.1	ENSP00000437910	P0CJ72		UPI0001DA9316	NM_001190478.1			1/1		Pfam_domain:PF15040,hmmpanther:PTHR33895,hmmpanther:PTHR33895:SF4																	LOW		SNV				1										PASS		.	.												A	2	1	90	55599956	55599956	T	A	1	0	0	0	0	0	0	0	1	9954	1509	53	4		4	MTRNR2L5	10	55599956	Silent	SNP	T	C3N-02089_TP	1577045	55599956	78197466	572	29369											
IPMK	0	.	GRCh38	chr10	58196387	58196387	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgcgcatacatcttggacaAgcttttgcccactgaagact	11	10	8	12	2	1	2	0	1	1	1	1	3	1	3	1	1	3	2	1	1	3	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.940T>C	p.=	p.L314L	ENST00000373935	6/6	264	245	19	326	326	0	strelka-varscan-mutect	IPMK,synonymous_variant,p.=,ENST00000373935,NM_152230.4;	G	ENST00000373935	Transcript	synonymous_variant	1263/6133	940/1251	314/416	L	Ttg/Ctg		1		-1	IPMK	HGNC	HGNC:20739	protein_coding	YES	CCDS7250.1	ENSP00000363046	Q8NFU5		UPI000006FB8E	NM_152230.4			6/6		Pfam_domain:PF03770																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	90	58196387	58196387	A	G	1	0	0	0	0	0	0	0	1	7695	69	3	5		5	IPMK	10	58196387	Silent	SNP	A	C3N-02089_TP	2596431	58196387	75601035	573	29370											
BICC1	0	.	GRCh38	chr10	58817614	58817614	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcatttcctcgctgacAggaagcaatggctgtaactt	10	11	10	10	1	0	1	0	1	0	0	2	3	1	2	1	2	3	5	1	2	3	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.2586A>T	p.=	p.T862T	ENST00000373886	19/21	219	198	21	196	196	0	strelka-varscan-mutect	BICC1,synonymous_variant,p.=,ENST00000373886,NM_001080512.2;BICC1,downstream_gene_variant,,ENST00000263103,;	T	ENST00000373886	Transcript	synonymous_variant	2590/5475	2586/2925	862/974	T	acA/acT		1		1	BICC1	HGNC	HGNC:19351	protein_coding	YES	CCDS31206.1	ENSP00000362993	Q9H694		UPI000059D156	NM_001080512.2			19/21		hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF38																	LOW	1	SNV	2			1										PASS		rs1351703442	.												T	2	4	90	58817614	58817614	A	T	1	0	0	0	0	0	0	0	1	1576	175	7	4		4	BICC1	10	58817614	Silent	SNP	A	C3N-02089_TP	621227	58817614	74979808	574	29371											
JMJD1C	0	.	GRCh38	chr10	63215269	63215269	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgggtcctacctcctcGtgatatataatcatattttt	11	16	6	8	1	1	1	1	1	0	0	4	1	3	1	3	1	1	0	3	1	6	7	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1009C>A	p.=	p.R337R	ENST00000399262	7/26	57	50	7	80	80	0	varscan-mutect	JMJD1C,synonymous_variant,p.=,ENST00000399262,NM_001318154.1,NM_001322252.1,NM_001322254.1,NM_001322258.1,NM_032776.2;JMJD1C,synonymous_variant,p.=,ENST00000542921,NM_001318153.1,NM_001282948.1;JMJD1C,non_coding_transcript_exon_variant,,ENST00000402544,;JMJD1C,downstream_gene_variant,,ENST00000489372,;JMJD1C,downstream_gene_variant,,ENST00000469152,;JMJD1C,downstream_gene_variant,,ENST00000633035,;	T	ENST00000399262	Transcript	synonymous_variant	1228/8666	1009/7623	337/2540	R	Cga/Aga		1		-1	JMJD1C	HGNC	HGNC:12313	protein_coding	YES	CCDS41532.1	ENSP00000382204	Q15652		UPI0000198BEF	NM_001318154.1,NM_001322252.1,NM_001322254.1,NM_001322258.1,NM_032776.2			7/26		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	90	63215269	63215269	G	T	1	0	0	0	0	0	0	0	1	7864	1153	40	1		1	JMJD1C	10	63215269	Silent	SNP	G	C3N-02089_TP	4397655	63215269	70582153	575	29372											
JMJD1C	0	.	GRCh38	chr10	63215591	63215591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgattggcacgagacctgcGtcgtgatgtaatgccaatat	10	12	11	8	3	0	3	0	2	0	1	1	4	0	3	2	1	2	2	2	1	3	4			C3N-02089_TP	C3N-02089_NB	G	G																c.784C>G	p.Arg262Gly	p.R262G	ENST00000399262	6/26	64	59	5	59	59	0	strelka-varscan-mutect	JMJD1C,missense_variant,p.Arg262Gly,ENST00000399262,NM_001318154.1,NM_001322252.1,NM_001322254.1,NM_001322258.1,NM_032776.2;JMJD1C,missense_variant,p.Arg80Gly,ENST00000542921,NM_001318153.1,NM_001282948.1;JMJD1C,non_coding_transcript_exon_variant,,ENST00000402544,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000489372,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000469152,;JMJD1C,downstream_gene_variant,,ENST00000633035,;	C	ENST00000399262	Transcript	missense_variant	1003/8666	784/7623	262/2540	R/G	Cgc/Ggc	COSM1242396,COSM1242397	1		-1	JMJD1C	HGNC	HGNC:12313	protein_coding	YES	CCDS41532.1	ENSP00000382204	Q15652		UPI0000198BEF	NM_001318154.1,NM_001322252.1,NM_001322254.1,NM_001322258.1,NM_032776.2	deleterious(0)		6/26		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1336559705	.												C	3	2	90	63215591	63215591	G	C	1	0	0	0	0	1	0	0	0	7864	1145	40	4		4	JMJD1C	10	63215591	Missense_Mutation	SNP	G	C3N-02089_TP	322	63215591	70581831	576	29373											
JMJD1C	0	.	GRCh38	chr10	63380323	63380323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaatagatcttaccaatgCaggccactgaatctgtttgc	12	11	9	9	0	2	2	0	1	2	1	2	3	2	3	2	2	3	2	2	2	5	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.328G>T	p.Ala110Ser	p.A110S	ENST00000399262	2/26	280	214	66	281	280	1	strelka-varscan-mutect	JMJD1C,missense_variant,p.Ala110Ser,ENST00000399262,NM_001318154.1,NM_001322252.1,NM_001322254.1,NM_001322258.1,NM_032776.2;JMJD1C,non_coding_transcript_exon_variant,,ENST00000633035,;	A	ENST00000399262	Transcript	missense_variant	547/8666	328/7623	110/2540	A/S	Gca/Tca		1		-1	JMJD1C	HGNC	HGNC:12313	protein_coding	YES	CCDS41532.1	ENSP00000382204	Q15652		UPI0000198BEF	NM_001318154.1,NM_001322252.1,NM_001322254.1,NM_001322258.1,NM_032776.2	deleterious(0.02)		2/26																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	63380323	63380323	C	A	1	0	0	0	0	1	0	0	0	7864	724	25	2		2	JMJD1C	10	63380323	Missense_Mutation	SNP	C	C3N-02089_TP	164732	63380323	70417099	577	29374											
STOX1	0	.	GRCh38	chr10	68885361	68885361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgagtgatctgaaacccaGccagactggaccaaaggaaa	16	4	11	10	1	1	3	0	2	1	1	1	7	1	5	3	2	2	0	3	2	3	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1565G>T	p.Ser522Ile	p.S522I	ENST00000298596	3/4	133	96	37	209	209	0	strelka-varscan-mutect	STOX1,missense_variant,p.Ser522Ile,ENST00000298596,NM_152709.4;STOX1,missense_variant,p.Ser522Ile,ENST00000399169,NM_001130161.2;STOX1,intron_variant,,ENST00000399165,NM_001130159.2;STOX1,intron_variant,,ENST00000399162,NM_001130160.2;	T	ENST00000298596	Transcript	missense_variant	1648/3377	1565/2970	522/989	S/I	aGc/aTc		1		1	STOX1	HGNC	HGNC:23508	protein_coding	YES	CCDS41535.1	ENSP00000298596	Q6ZVD7		UPI00004B59B0	NM_152709.4	deleterious(0.01)		3/4		hmmpanther:PTHR22437,hmmpanther:PTHR22437:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	68885361	68885361	G	T	1	0	0	0	0	1	0	0	0	15697	971	34	2		2	STOX1	10	68885361	Missense_Mutation	SNP	G	C3N-02089_TP	5505038	68885361	64912061	578	29375											
UNC5B	0	.	GRCh38	chr10	71293822	71293822	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcacgggcgagtcctattcCcgctcagcagtcaagcggct	7	9	11	14	4	3	0	3	0	0	0	5	1	5	0	2	2	2	3	2	2	2	3			C3N-02089_TP	C3N-02089_NB	C	C																c.2064C>A	p.=	p.S688S	ENST00000335350	13/17	242	179	63	269	269	0	strelka-varscan-mutect	UNC5B,synonymous_variant,p.=,ENST00000335350,NM_170744.4;UNC5B,synonymous_variant,p.=,ENST00000373192,NM_001244889.1;	A	ENST00000335350	Transcript	synonymous_variant	2480/6841	2064/2838	688/945	S	tcC/tcA	COSM235543	1		1	UNC5B	HGNC	HGNC:12568	protein_coding	YES	CCDS7309.1	ENSP00000334329	Q8IZJ1		UPI000000D753	NM_170744.4			13/17		hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF6											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	90	71293822	71293822	C	A	1	0	0	0	0	0	0	0	1	17516	610	22	2		2	UNC5B	10	71293822	Silent	SNP	C	C3N-02089_TP	2408461	71293822	62503600	579	29376											
LRIT1	0	.	GRCh38	chr10	84234331	84234331	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagccatccaaaagatgaaCcaggtcatagagtcggcagt	14	6	10	11	1	1	3	1	1	0	2	3	3	2	3	4	2	2	1	4	2	4	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.637G>T	p.Val213Phe	p.V213F	ENST00000372105	3/4	60	48	12	44	44	0	strelka-varscan-mutect	LRIT1,missense_variant,p.Val213Phe,ENST00000372105,NM_015613.2;	A	ENST00000372105	Transcript	missense_variant	659/2228	637/1872	213/623	V/F	Gtt/Ttt		1		-1	LRIT1	HGNC	HGNC:23404	protein_coding	YES	CCDS7373.1	ENSP00000361177	Q9P2V4		UPI000006F66C	NM_015613.2	deleterious(0)		3/4		Gene3D:3.80.10.10,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF9,SMART_domains:SM00082,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		rs1315974055	.												A	3	1	90	84234331	84234331	C	A	1	0	0	0	0	1	0	0	0	8842	507	18	2		2	LRIT1	10	84234331	Missense_Mutation	SNP	C	C3N-02089_TP	12940509	84234331	49563091	580	29377											
LGI1	0	.	GRCh38	chr10	93758224	93758224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttcctatgtctcttatCtgcgcttttgctgactgagg	5	19	8	9	1	2	2	0	2	2	0	4	2	3	2	1	1	2	2	1	1	3	6	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.80C>A	p.Ser27Tyr	p.S27Y	ENST00000371418	1/8	516	383	133	473	472	1	strelka-varscan-mutect	LGI1,missense_variant,p.Ser27Tyr,ENST00000630184,;LGI1,missense_variant,p.Ser27Tyr,ENST00000371418,NM_005097.2;LGI1,missense_variant,p.Ser27Tyr,ENST00000629035,;LGI1,missense_variant,p.Ser27Tyr,ENST00000630047,;LGI1,missense_variant,p.Ser27Tyr,ENST00000636155,;LGI1,missense_variant,p.Ser27Tyr,ENST00000371413,NM_001308275.1;LGI1,missense_variant,p.Ser27Tyr,ENST00000627699,;LGI1,missense_variant,p.Ser27Tyr,ENST00000478763,;LGI1,intron_variant,,ENST00000637689,;RP11-437J2.3,upstream_gene_variant,,ENST00000630034,;LGI1,upstream_gene_variant,,ENST00000637347,;LGI1,upstream_gene_variant,,ENST00000636683,;LGI1,upstream_gene_variant,,ENST00000636140,;LGI1,missense_variant,p.Ser27Tyr,ENST00000637037,;LGI1,missense_variant,p.Ser27Tyr,ENST00000635953,;LGI1,missense_variant,p.Ser27Tyr,ENST00000627420,;LGI1,missense_variant,p.Ser27Tyr,ENST00000637611,;LGI1,missense_variant,p.Ser27Tyr,ENST00000636754,;LGI1,missense_variant,p.Ser27Tyr,ENST00000636232,;LGI1,missense_variant,p.Ser27Tyr,ENST00000637925,;LGI1,missense_variant,p.Ser27Tyr,ENST00000638049,;LGI1,missense_variant,p.Ser27Tyr,ENST00000636946,;LGI1,missense_variant,p.Ser27Tyr,ENST00000630487,;	A	ENST00000371418	Transcript	missense_variant	416/2381	80/1674	27/557	S/Y	tCt/tAt		1		1	LGI1	HGNC	HGNC:6572	protein_coding	YES	CCDS7431.1	ENSP00000360472	O95970	A0A0S2Z4S7	UPI0000048F03	NM_005097.2	tolerated(1)		1/8		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF17,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	93758224	93758224	C	A	1	0	0	0	0	1	0	0	0	8661	913	32	2		2	LGI1	10	93758224	Missense_Mutation	SNP	C	C3N-02089_TP	9523893	93758224	40039198	581	29378											
SLC35G1	0	.	GRCh38	chr10	93901417	93901417	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccaacgtggtggacagTgggtggtgctctctgcgtag	5	11	17	8	2	1	0	0	0	1	0	2	1	1	1	1	4	4	2	1	4	2	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1025T>A	p.Val342Glu	p.V342E	ENST00000427197	3/3	87	69	18	108	108	0	strelka-varscan-mutect	SLC35G1,missense_variant,p.Val341Glu,ENST00000371408,NM_153226.2;SLC35G1,missense_variant,p.Val342Glu,ENST00000427197,NM_001134658.1;SLC35G1,intron_variant,,ENST00000483386,;SLC35G1,intron_variant,,ENST00000603665,;SLC35G1,intron_variant,,ENST00000494992,;SLC35G1,intron_variant,,ENST00000605679,;	A	ENST00000427197	Transcript	missense_variant	1086/2402	1025/1098	342/365	V/E	gTg/gAg		1		1	SLC35G1	HGNC	HGNC:26607	protein_coding	YES	CCDS44459.1	ENSP00000400932	Q2M3R5		UPI000013FE98	NM_001134658.1	deleterious(0)		3/3		Transmembrane_helices:TMhelix,hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF6,Pfam_domain:PF00892,Superfamily_domains:0043518																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	93901417	93901417	T	A	1	0	0	0	0	1	0	0	0	14865	1696	59	4		4	SLC35G1	10	93901417	Missense_Mutation	SNP	T	C3N-02089_TP	143193	93901417	39896005	582	29379											
HELLS	0	.	GRCh38	chr10	94593556	94593556	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttagtgagtacacgagctGgtggcctgggcattaatctg	8	12	13	8	1	2	1	0	1	2	0	2	2	2	1	1	3	2	3	1	3	3	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2167G>C	p.Gly723Arg	p.G723R	ENST00000394036	19/23	185	150	35	199	199	0	strelka-varscan-mutect	HELLS,missense_variant,p.Gly114Arg,ENST00000371327,;HELLS,missense_variant,p.Gly723Arg,ENST00000394036,NM_001289067.1;HELLS,missense_variant,p.Gly677Arg,ENST00000348459,NM_001289069.1,NM_001289068.1,NM_001289074.1,NM_018063.4,NM_001289075.1;HELLS,missense_variant,p.Gly553Arg,ENST00000239026,NM_001289071.1;HELLS,missense_variant,p.Gly579Arg,ENST00000394045,NM_001289070.1,NM_001289072.1;HELLS,missense_variant,p.Gly539Arg,ENST00000371332,NM_001289073.1;RP11-119K6.6,intron_variant,,ENST00000432120,;HELLS,upstream_gene_variant,,ENST00000475263,;HELLS,downstream_gene_variant,,ENST00000464030,;	C	ENST00000394036	Transcript	missense_variant	2167/3131	2167/2655	723/884	G/R	Ggt/Cgt		1		1	HELLS	HGNC	HGNC:4861	protein_coding	YES	CCDS73162.1	ENSP00000377601		A0A0B4J1V9	UPI000023B7CF	NM_001289067.1	deleterious(0)		19/23		PROSITE_profiles:PS51194,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	94593556	94593556	G	C	1	0	0	0	0	1	0	0	0	6928	1348	47	4		4	HELLS	10	94593556	Missense_Mutation	SNP	G	C3N-02089_TP	692139	94593556	39203866	583	29380											
DNTT	0	.	GRCh38	chr10	96304652	96304652	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccacccgcagagcgttccTcatggagctggcccgcagga	9	5	12	15	3	1	1	1	0	0	1	2	3	2	3	4	3	3	4	4	3	1	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.155T>A	p.Leu52His	p.L52H	ENST00000371174	1/11	243	226	17	234	234	0	strelka-varscan-mutect	DNTT,missense_variant,p.Leu52His,ENST00000371174,NM_004088.3;DNTT,missense_variant,p.Leu52His,ENST00000630152,NM_001017520.1;RP11-35J23.1,intron_variant,,ENST00000454484,;	A	ENST00000371174	Transcript	missense_variant	257/1972	155/1530	52/509	L/H	cTc/cAc		1		1	DNTT	HGNC	HGNC:2983	protein_coding	YES	CCDS7447.1	ENSP00000360216	P04053		UPI000013C84B	NM_004088.3	deleterious(0)		1/11		Gene3D:3.40.50.10190,Pfam_domain:PF00533,PIRSF_domain:PIRSF000817,PIRSF_domain:PIRSF501175,Prints_domain:PR00871,PROSITE_profiles:PS50172,hmmpanther:PTHR11276,hmmpanther:PTHR11276:SF21,SMART_domains:SM00292,Superfamily_domains:SSF52113																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	96304652	96304652	T	A	1	0	0	0	0	1	0	0	0	4494	1551	54	4		4	DNTT	10	96304652	Missense_Mutation	SNP	T	C3N-02089_TP	1711096	96304652	37492770	584	29381											
CRTAC1	0	.	GRCh38	chr10	98011163	98011163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgacgatctcaaagtcccCatcatggtccacatcagtaa	13	8	6	14	2	3	0	3	0	1	0	6	2	5	0	3	1	0	1	3	1	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.199G>T	p.Gly67Trp	p.G67W	ENST00000370597	2/15	237	171	66	235	234	1	strelka-varscan-mutect	CRTAC1,missense_variant,p.Gly67Trp,ENST00000370597,NM_018058.6;CRTAC1,missense_variant,p.Gly67Trp,ENST00000370591,NM_001206528.2;CRTAC1,missense_variant,p.Gly59Trp,ENST00000309155,;	A	ENST00000370597	Transcript	missense_variant	555/2890	199/1986	67/661	G/W	Ggg/Tgg		1		-1	CRTAC1	HGNC	HGNC:14882	protein_coding	YES	CCDS31266.1	ENSP00000359629	Q9NQ79		UPI000006D454	NM_018058.6	deleterious(0)		2/15		Pfam_domain:PF13517,hmmpanther:PTHR16026,hmmpanther:PTHR16026:SF4,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		rs1321493033	.												A	3	1	90	98011163	98011163	C	A	1	0	0	0	0	1	0	0	0	3698	594	21	2		2	CRTAC1	10	98011163	Missense_Mutation	SNP	C	C3N-02089_TP	1706511	98011163	35786259	585	29382											
PKD2L1	0	.	GRCh38	chr10	100297508	100297508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctctgcactaccctgtcggGatcctggaaggtccaggtag	7	9	12	13	1	1	0	0	0	1	0	4	2	3	2	4	4	2	2	4	4	3	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.830C>A	p.Ser277Tyr	p.S277Y	ENST00000318222	5/16	343	253	90	284	282	2	strelka-varscan-mutect	PKD2L1,missense_variant,p.Ser277Tyr,ENST00000318222,NM_001253837.1,NM_016112.2;PKD2L1,intron_variant,,ENST00000465680,;PKD2L1,3_prime_UTR_variant,,ENST00000528248,;PKD2L1,downstream_gene_variant,,ENST00000532547,;	T	ENST00000318222	Transcript	missense_variant	1213/3043	830/2418	277/805	S/Y	tCc/tAc		1		-1	PKD2L1	HGNC	HGNC:9011	protein_coding	YES	CCDS7492.1	ENSP00000325296	Q9P0L9		UPI0000130FED	NM_001253837.1,NM_016112.2	deleterious(0)		5/16		hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF105,Pfam_domain:PF08016																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	100297508	100297508	G	T	1	0	0	0	0	1	0	0	0	12063	1174	41	2		2	PKD2L1	10	100297508	Missense_Mutation	SNP	G	C3N-02089_TP	2286345	100297508	33499914	586	29383											
LDB1	0	.	GRCh38	chr10	102108179	102108179	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggctgttggcgcccaGtgcaggggagttgttaaagc	7	8	17	9	1	0	0	0	0	0	0	0	1	0	1	2	5	2	5	2	5	2	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1150C>T	p.=	p.L384L	ENST00000425280	11/11	463	329	134	379	379	0	strelka-varscan-mutect	LDB1,synonymous_variant,p.=,ENST00000361198,NM_003893.4;LDB1,synonymous_variant,p.=,ENST00000425280,NM_001113407.1;LDB1,downstream_gene_variant,,ENST00000490751,;LDB1,downstream_gene_variant,,ENST00000461873,;	A	ENST00000425280	Transcript	synonymous_variant	1493/2089	1150/1236	384/411	L	Ctg/Ttg		1		-1	LDB1	HGNC	HGNC:6532	protein_coding	YES	CCDS44472.1	ENSP00000392466	Q86U70		UPI00001F95EA	NM_001113407.1			11/11		hmmpanther:PTHR10378,hmmpanther:PTHR10378:SF7																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	90	102108179	102108179	G	A	1	0	0	0	0	0	0	0	1	8602	1020	36	3		3	LDB1	10	102108179	Silent	SNP	G	C3N-02089_TP	1810671	102108179	31689243	587	29384											
GBF1	0	.	GRCh38	chr10	102367480	102367480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactggcctgtctctaggaGtttcgcaaaaatctgaaagg	11	12	10	8	1	2	1	0	1	2	0	4	2	2	2	1	3	1	2	1	3	5	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2559G>T	p.Glu853Asp	p.E853D	ENST00000369983	21/40	181	155	26	207	207	0	strelka-varscan-mutect	GBF1,missense_variant,p.Glu853Asp,ENST00000369983,NM_001199379.1,NM_001199378.1,NM_004193.2;	T	ENST00000369983	Transcript	missense_variant,splice_region_variant	2819/6403	2559/5580	853/1859	E/D	gaG/gaT		1		1	GBF1	HGNC	HGNC:4181	protein_coding	YES	CCDS7533.1	ENSP00000359000	Q92538		UPI000012B228	NM_001199379.1,NM_001199378.1,NM_004193.2	tolerated(1)		21/40		PROSITE_profiles:PS50190,hmmpanther:PTHR10663:SF167,hmmpanther:PTHR10663,Pfam_domain:PF01369,Gene3D:1.10.1000.11,SMART_domains:SM00222,Superfamily_domains:SSF48425																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	102367480	102367480	G	T	1	0	0	0	0	1	0	0	0	6142	1043	36	2		2	GBF1	10	102367480	Missense_Mutation	SNP	G	C3N-02089_TP	259301	102367480	31429942	588	29385											
ATRNL1	0	.	GRCh38	chr10	115426288	115426288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatgttggtaatccacttaGaggaacatgttattgtaagt	12	15	9	5	0	0	1	0	0	0	1	1	2	1	2	1	2	1	4	1	2	6	7	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.3308G>A	p.Arg1103Lys	p.R1103K	ENST00000355044	21/29	154	97	57	184	184	0	strelka-varscan-mutect	ATRNL1,missense_variant,p.Arg1103Lys,ENST00000355044,NM_207303.4;ATRNL1,missense_variant,p.Arg187Lys,ENST00000526373,;ATRNL1,non_coding_transcript_exon_variant,,ENST00000534530,;	A	ENST00000355044	Transcript	missense_variant	3434/8479	3308/4140	1103/1379	R/K	aGa/aAa		1		1	ATRNL1	HGNC	HGNC:29063	protein_coding	YES	CCDS7592.1	ENSP00000347152	Q5VV63		UPI000021CCF8	NM_207303.4	tolerated(1)		21/29		PROSITE_profiles:PS50027,hmmpanther:PTHR10574:SF224,hmmpanther:PTHR10574,SMART_domains:SM00180																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	115426288	115426288	G	A	1	0	0	0	0	1	0	0	0	1360	942	33	3		3	ATRNL1	10	115426288	Missense_Mutation	SNP	G	C3N-02089_TP	13058808	115426288	18371134	589	29386											
FGFR2	0	.	GRCh38	chr10	121500865	121500865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacggtgaccgcctccttggGcttgtctttgtcaattccca	5	13	9	14	2	2	1	1	1	1	0	4	1	4	1	4	2	0	1	4	2	1	4			C3N-02089_TP	C3N-02089_NB	G	G																c.1525C>G	p.Pro509Ala	p.P509A	ENST00000457416	11/18	519	485	34	355	355	0	strelka-varscan-mutect	FGFR2,missense_variant,p.Pro419Ala,ENST00000613048,NM_023029.2;FGFR2,missense_variant,p.Pro508Ala,ENST00000358487,NM_001320658.1,NM_000141.4;FGFR2,missense_variant,p.Pro280Ala,ENST00000478859,NM_001320654.1;FGFR2,missense_variant,p.Pro396Ala,ENST00000369061,NM_001144914.1;FGFR2,missense_variant,p.Pro419Ala,ENST00000357555,NM_001144915.1;FGFR2,missense_variant,p.Pro391Ala,ENST00000356226,NM_001144918.1,NM_001144916.1;FGFR2,missense_variant,p.Pro392Ala,ENST00000369060,NM_001144917.1;FGFR2,missense_variant,p.Pro509Ala,ENST00000457416,NM_022970.3;FGFR2,missense_variant,p.Pro394Ala,ENST00000369059,;FGFR2,missense_variant,p.Pro420Ala,ENST00000360144,NM_001144919.1;FGFR2,missense_variant,p.Pro509Ala,ENST00000369058,;FGFR2,missense_variant,p.Pro509Ala,ENST00000369056,NM_001144913.1;FGFR2,missense_variant,p.Pro417Ala,ENST00000336553,;FGFR2,missense_variant,p.Pro508Ala,ENST00000351936,;FGFR2,missense_variant,p.Pro506Ala,ENST00000346997,;FGFR2,missense_variant,p.Pro100Ala,ENST00000429361,;FGFR2,3_prime_UTR_variant,,ENST00000604236,;	C	ENST00000457416	Transcript	missense_variant	2117/3061	1525/2469	509/822	P/A	Ccc/Gcc	COSM1716055,COSM1716056,COSM1716057,COSM1716058	1		-1	FGFR2	HGNC	HGNC:3689	protein_coding	YES	CCDS7620.2	ENSP00000410294	P21802		UPI000002A99A	NM_022970.3	tolerated(0.18)		11/18		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF130,PROSITE_patterns:PS00107,Pfam_domain:PF07714,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000628,SMART_domains:SM00219,Superfamily_domains:SSF56112											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												C	3	2	90	121500865	121500865	G	C	1	0	0	0	0	1	0	0	0	5730	1203	42	4		4	FGFR2	10	121500865	Missense_Mutation	SNP	G	C3N-02089_TP	6074577	121500865	12296557	590	29387											
CPXM2	0	.	GRCh38	chr10	123713533	123713533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacggcggcaggcaagaGaaagcttctgcagggaaact	13	5	13	10	2	2	1	1	0	1	1	2	3	2	2	0	4	3	4	0	4	3	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.530C>A	p.Ser177Tyr	p.S177Y	ENST00000615851	14/15	47	30	17	73	73	0	strelka-varscan-mutect	CPXM2,missense_variant,p.Ser177Tyr,ENST00000615851,;CPXM2,non_coding_transcript_exon_variant,,ENST00000368854,;	T	ENST00000615851	Transcript	missense_variant	2367/2512	530/675	177/224	S/Y	tCt/tAt		1		-1	CPXM2	HGNC	HGNC:26977	protein_coding			ENSP00000483180		Q49AT5	UPI000056F13A		tolerated(0.06)		14/15		SMART_domains:SM00631																	MODERATE		SNV	5			1										PASS		rs1195981054	.												T	3	4	90	123713533	123713533	G	T	1	0	0	0	0	1	0	0	0	3636	942	33	2		2	CPXM2	10	123713533	Missense_Mutation	SNP	G	C3N-02089_TP	2212668	123713533	10083889	591	29388											
RIC8A	0	.	GRCh38	chr11	208863	208863	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccggcgcgccatggagccCcgggcggttgcagaagccgt	5	4	16	16	6	0	1	0	0	0	1	0	2	0	2	6	4	3	2	6	4	1	1			C3N-02089_TP	C3N-02089_NB	C	C																c.9C>T	p.=	p.P3P	ENST00000325207	1/10	267	190	77	211	211	0	strelka-varscan-mutect	RIC8A,synonymous_variant,p.=,ENST00000526104,NM_001286134.1;RIC8A,synonymous_variant,p.=,ENST00000325207,NM_021932.5;RIC8A,synonymous_variant,p.=,ENST00000530889,;RIC8A,synonymous_variant,p.=,ENST00000528357,;RIC8A,synonymous_variant,p.=,ENST00000626818,;BET1L,upstream_gene_variant,,ENST00000325147,NM_016526.4;BET1L,upstream_gene_variant,,ENST00000382762,NM_001098787.1;RIC8A,upstream_gene_variant,,ENST00000527696,;RIC8A,upstream_gene_variant,,ENST00000527728,;BET1L,upstream_gene_variant,,ENST00000486280,;RIC8A,upstream_gene_variant,,ENST00000524854,;BET1L,upstream_gene_variant,,ENST00000410108,;RIC8A,upstream_gene_variant,,ENST00000527468,;BET1L,upstream_gene_variant,,ENST00000529614,;BET1L,upstream_gene_variant,,ENST00000332865,;RIC8A,upstream_gene_variant,,ENST00000529275,;RIC8A,upstream_gene_variant,,ENST00000611346,;RP11-304M2.5,downstream_gene_variant,,ENST00000526963,;RIC8A,upstream_gene_variant,,ENST00000531541,;RIC8A,synonymous_variant,p.=,ENST00000526982,;RIC8A,non_coding_transcript_exon_variant,,ENST00000532373,;RIC8A,upstream_gene_variant,,ENST00000530149,;BET1L,upstream_gene_variant,,ENST00000479463,;RIC8A,upstream_gene_variant,,ENST00000527039,;RIC8A,upstream_gene_variant,,ENST00000526557,;RIC8A,upstream_gene_variant,,ENST00000532241,;	T	ENST00000325207	Transcript	synonymous_variant	334/2702	9/1614	3/537	P	ccC/ccT	COSM3666247	1		1	RIC8A	HGNC	HGNC:29550	protein_coding	YES	CCDS7690.1	ENSP00000325941	Q9NPQ8		UPI0000037C19	NM_021932.5			1/10		hmmpanther:PTHR12425:SF4,hmmpanther:PTHR12425											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	90	208863	208863	C	T	1	0	0	0	0	0	0	0	1	13529	610	22	3		3	RIC8A	11	208863	Silent	SNP	C	C3N-02089_TP		208863	134877759	592	29389											
MUC6	0	.	GRCh38	chr11	1029106	1029106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtgagacgccggacttGtcgtacacagccatgagggc	9	7	15	10	3	0	2	0	2	0	1	1	5	0	3	2	2	2	1	2	2	1	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1320C>A	p.Asp440Glu	p.D440E	ENST00000421673	11/33	346	308	38	336	336	0	strelka-varscan-mutect	MUC6,missense_variant,p.Asp440Glu,ENST00000421673,NM_005961.2;MUC6,downstream_gene_variant,,ENST00000525923,;	T	ENST00000421673	Transcript	missense_variant	1371/8006	1320/7320	440/2439	D/E	gaC/gaA		1		-1	MUC6	HGNC	HGNC:7517	protein_coding	YES	CCDS44513.1	ENSP00000406861	Q6W4X9		UPI0000251DBE	NM_005961.2	tolerated(0.23)		11/33		PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF264,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216																	MODERATE	1	SNV	5			1										PASS		rs1201583132	.												T	3	4	90	1029106	1029106	G	T	1	0	0	0	0	1	0	0	0	9980	1368	48	2		2	MUC6	11	1029106	Missense_Mutation	SNP	G	C3N-02089_TP	820243	1029106	134057516	593	29390											
MUC5B	0	.	GRCh38	chr11	1241626	1241626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaactgggagcaggaGggcgtcttcaagatgtgcta	10	8	16	7	1	2	1	1	0	1	1	2	4	2	4	0	4	4	3	0	4	3	2			C3N-02089_TP	C3N-02089_NB	G	G																c.4746G>A	p.=	p.E1582E	ENST00000529681	31/49	125	88	37	116	115	1	strelka-varscan-mutect	MUC5B,synonymous_variant,p.=,ENST00000529681,NM_002458.2;RP11-532E4.2,downstream_gene_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;	A	ENST00000529681	Transcript	synonymous_variant	4804/17911	4746/17289	1582/5762	E	gaG/gaA	COSM1976196,COSM1976197	1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2			31/49		Pfam_domain:PF13330											1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												A	2	1	90	1241626	1241626	G	A	1	0	0	0	0	0	0	0	1	9979	991	35	3		3	MUC5B	11	1241626	Silent	SNP	G	C3N-02089_TP	212520	1241626	133844996	594	29391											
OR51T1	0	.	GRCh38	chr11	4882615	4882615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaagaagcaacaaaaagCtctcagcacttgtgtctgtc	14	8	8	11	1	2	1	1	0	2	1	4	2	2	1	1	0	4	3	1	0	5	1			C3N-02089_TP	C3N-02089_NB	C	C																c.797C>A	p.Ala266Asp	p.A266D	ENST00000380378	1/1	152	99	53	142	140	2	strelka-varscan-mutect	OR51T1,missense_variant,p.Ala266Asp,ENST00000380378,NM_001004759.1;OR51T1,missense_variant,p.Ala239Asp,ENST00000322049,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;	A	ENST00000380378	Transcript	missense_variant	797/1065	797/1065	266/354	A/D	gCt/gAt	COSM4192313,COSM4192314	1		1	OR51T1	HGNC	HGNC:15205	protein_coding	YES	CCDS31363.1	ENSP00000369738		A0A0C4DFX5	UPI000015F1FF	NM_001004759.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF6,Superfamily_domains:SSF81321											1,1						MODERATE		SNV			1,1	1										PASS		.	.												A	3	1	90	4882615	4882615	C	A	1	0	0	0	0	1	0	0	0	11180	797	28	2		2	OR51T1	11	4882615	Missense_Mutation	SNP	C	C3N-02089_TP	3640989	4882615	130204007	595	29392											
OR56A1	0	.	GRCh38	chr11	6027681	6027681	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacagtggagctgttgctGggtgacgccataggctgaat	8	9	17	7	1	0	2	0	2	0	0	0	4	0	4	1	4	2	4	1	4	2	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.24C>G	p.=	p.P8P	ENST00000316650	1/1	44	32	12	63	63	0	strelka-varscan-mutect	OR56A1,synonymous_variant,p.=,ENST00000316650,NM_001001917.2;	C	ENST00000316650	Transcript	synonymous_variant	61/1071	24/957	8/318	P	ccC/ccG		1		-1	OR56A1	HGNC	HGNC:14781	protein_coding	YES	CCDS31405.1	ENSP00000321246	Q8NGH5	A0A126GVB5	UPI000013FE4B	NM_001001917.2			1/1		hmmpanther:PTHR24248:SF62,hmmpanther:PTHR24248,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												C	2	2	90	6027681	6027681	G	C	1	0	0	0	0	0	0	0	1	11205	1335	47	4		4	OR56A1	11	6027681	Silent	SNP	G	C3N-02089_TP	1145066	6027681	129058941	596	29393											
USH1C	0	.	GRCh38	chr11	17522896	17522896	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgcgcctctgccagccGctcccggtctgtcatgaaca	5	8	10	18	4	3	1	1	1	2	0	4	1	4	1	5	1	4	1	5	1	1	0	rs749821587		C3N-02089_TP	C3N-02089_NB	G	G																c.907C>G	p.Arg303Gly	p.R303G	ENST00000005226	12/27	292	213	79	268	268	0	strelka-varscan-mutect	USH1C,missense_variant,p.Arg303Gly,ENST00000005226,NM_153676.3;USH1C,missense_variant,p.Arg272Gly,ENST00000527720,;USH1C,missense_variant,p.Arg303Gly,ENST00000318024,NM_005709.3;USH1C,missense_variant,p.Arg284Gly,ENST00000527020,NM_001297764.1;USH1C,missense_variant,p.Arg314Gly,ENST00000526181,;USH1C,upstream_gene_variant,,ENST00000530700,;USH1C,missense_variant,p.Arg303Gly,ENST00000526313,;	C	ENST00000005226	Transcript	missense_variant	907/2700	907/2700	303/899	R/G	Cgg/Ggg	rs749821587	1		-1	USH1C	HGNC	HGNC:12597	protein_coding	YES	CCDS7825.1	ENSP00000005226	Q9Y6N9		UPI00001D965A	NM_153676.3	deleterious(0)		12/27		hmmpanther:PTHR23116,hmmpanther:PTHR23116:SF36,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs749821587	.												C	3	2	90	17522896	17522896	G	C	1	0	0	0	0	1	0	0	0	17568	1086	38	4		4	USH1C	11	17522896	Missense_Mutation	SNP	G	C3N-02089_TP	11495215	17522896	117563726	597	29394											
SLC6A5	0	.	GRCh38	chr11	20630812	20630812	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgagaatgtggcagacCaaggtacaggacagttgtta	14	9	12	6	0	0	2	0	1	0	2	0	4	0	3	1	3	1	4	1	3	4	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1621C>A	p.Gln541Lys	p.Q541K	ENST00000525748	10/16	420	313	107	486	485	1	strelka-varscan-mutect	SLC6A5,missense_variant,p.Gln541Lys,ENST00000525748,NM_004211.3;SLC6A5,non_coding_transcript_exon_variant,,ENST00000528440,;SLC6A5,3_prime_UTR_variant,,ENST00000298923,;	A	ENST00000525748	Transcript	missense_variant	1894/7084	1621/2394	541/797	Q/K	Caa/Aaa		1		1	SLC6A5	HGNC	HGNC:11051	protein_coding	YES	CCDS7854.1	ENSP00000434364	Q9Y345		UPI00004564A5	NM_004211.3	deleterious(0.03)		10/16		Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF158																	MODERATE	1	SNV	1			1										PASS		rs931802079	.												A	3	1	90	20630812	20630812	C	A	1	0	0	0	0	1	0	0	0	14970	608	21	2		2	SLC6A5	11	20630812	Missense_Mutation	SNP	C	C3N-02089_TP	3107916	20630812	114455810	598	29395											
NELL1	0	.	GRCh38	chr11	20960546	20960546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctgtccagggagactCtgcctactgtgaaggtaagt	9	11	11	10	0	2	2	0	1	2	1	4	3	3	2	2	2	2	1	2	2	3	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1370C>A	p.Ser457Tyr	p.S457Y	ENST00000298925	13/21	142	89	53	142	142	0	strelka-varscan-mutect	NELL1,missense_variant,p.Ser457Tyr,ENST00000298925,NM_001288713.1;NELL1,missense_variant,p.Ser372Tyr,ENST00000325319,NM_001288714.1;NELL1,missense_variant,p.Ser429Tyr,ENST00000357134,NM_006157.4;NELL1,missense_variant,p.Ser429Tyr,ENST00000532434,NM_201551.2;NELL1,non_coding_transcript_exon_variant,,ENST00000530672,;	A	ENST00000298925	Transcript	missense_variant	1523/3329	1370/2517	457/838	S/Y	tCt/tAt		1		1	NELL1	HGNC	HGNC:7750	protein_coding	YES	CCDS73267.1	ENSP00000298925		J3KNC5	UPI0000228C6F	NM_001288713.1	deleterious(0.02)		13/21		Gene3D:2.10.25.10,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	90	20960546	20960546	C	A	1	0	0	0	0	1	0	0	0	10364	913	32	2		2	NELL1	11	20960546	Missense_Mutation	SNP	C	C3N-02089_TP	329734	20960546	114126076	599	29396											
ANO5	0	.	GRCh38	chr11	22255370	22255370	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatatttatttacctataGtcaccttatttttggagttt	10	22	4	5	0	1	0	1	0	0	0	1	1	1	1	2	1	1	1	2	1	8	13	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1181-1G>A		p.X394_splice	ENST00000324559		152	137	15	190	189	1	strelka-varscan-mutect	ANO5,splice_acceptor_variant,,ENST00000324559,NM_001142649.1,NM_213599.2;	A	ENST00000324559	Transcript	splice_acceptor_variant	-/6651	1181/2742	394/913				1		1	ANO5	HGNC	HGNC:27337	protein_coding	YES	CCDS31444.1	ENSP00000315371	Q75V66		UPI000035B19B	NM_001142649.1,NM_213599.2				12/21																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	90	22255370	22255370	G	A	1	0	0	0	0	0	0	1	0	807	1043	36	3		3	ANO5	11	22255370	Splice_Site	SNP	G	C3N-02089_TP	1294824	22255370	112831252	600	29397											
SLC17A6	0	.	GRCh38	chr11	22341771	22341771	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaccgcgggggcaaggtCatcaaggaggtgggcaacgt	10	5	16	10	3	2	0	2	0	0	0	3	1	3	1	2	6	1	2	2	6	3	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.330C>A	p.=	p.V110V	ENST00000263160	2/12	139	102	37	125	125	0	strelka-varscan-mutect	SLC17A6,synonymous_variant,p.=,ENST00000263160,NM_020346.2;CTD-2140G10.2,upstream_gene_variant,,ENST00000528009,;CTD-2140G10.2,upstream_gene_variant,,ENST00000531304,;CTD-2140G10.2,upstream_gene_variant,,ENST00000530569,;SLC17A6,upstream_gene_variant,,ENST00000534115,;	A	ENST00000263160	Transcript	synonymous_variant	767/3949	330/1749	110/582	V	gtC/gtA		1		1	SLC17A6	HGNC	HGNC:16703	protein_coding	YES	CCDS7856.1	ENSP00000263160	Q9P2U8		UPI0000073F14	NM_020346.2			2/12		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF201,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	22341771	22341771	C	A	1	0	0	0	0	0	0	0	1	14686	813	29	2		2	SLC17A6	11	22341771	Silent	SNP	C	C3N-02089_TP	86401	22341771	112744851	601	29398											
KCNA4	0	.	GRCh38	chr11	30011179	30011179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtagtaggttcatccgcCtctgcaaaatacacagcact	11	10	9	11	1	2	0	1	0	1	0	3	0	3	0	2	2	3	5	2	2	5	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1500G>T	p.Glu500Asp	p.E500D	ENST00000328224	2/2	225	162	63	298	298	0	strelka-varscan-mutect	KCNA4,missense_variant,p.Glu500Asp,ENST00000328224,NM_002233.3;KCNA4,downstream_gene_variant,,ENST00000526518,;	A	ENST00000328224	Transcript	missense_variant	2734/4172	1500/1962	500/653	E/D	gaG/gaT		1		-1	KCNA4	HGNC	HGNC:6222	protein_coding	YES	CCDS41629.1	ENSP00000328511	P22459		UPI00001649FF	NM_002233.3	deleterious(0.01)		2/2		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF45,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	30011179	30011179	C	A	1	0	0	0	0	1	0	0	0	7921	680	24	2		2	KCNA4	11	30011179	Missense_Mutation	SNP	C	C3N-02089_TP	7669408	30011179	105075443	602	29399											
DCDC1	0	.	GRCh38	chr11	30892999	30892999	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttcagaaaggtgtgccTgtcaagaaaagcccagagaa	15	7	12	7	0	2	3	2	0	0	3	2	5	2	4	2	2	2	0	2	2	5	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.2215-2A>T		p.X739_splice	ENST00000406071		75	51	24	104	104	0	strelka-varscan-mutect	DCDC1,splice_acceptor_variant,,ENST00000597505,;DCDC1,splice_acceptor_variant,,ENST00000406071,NM_020869.3;DCDC1,splice_acceptor_variant,,ENST00000483396,;DCDC1,splice_acceptor_variant,,ENST00000303697,;DCDC1,splice_acceptor_variant,,ENST00000444572,;	A	ENST00000406071	Transcript	splice_acceptor_variant	-/4758	2215/2673	739/890				1		-1	DCDC1	HGNC	HGNC:20625	protein_coding	YES	CCDS73270.1	ENSP00000385936		B6ZDN3	UPI0001FB41A5	NM_020869.3				16/19																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	90	30892999	30892999	T	A	1	0	0	0	0	0	0	1	0	4086	1594	55	4		4	DCDC1	11	30892999	Splice_Site	SNP	T	C3N-02089_TP	881820	30892999	104193623	603	29400											
F2	0	.	GRCh38	chr11	46725978	46725978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtaccaggggcgcctggcgGtgaccacacatgggctcccc	7	5	14	15	2	0	1	0	1	0	0	1	1	1	1	5	5	1	2	5	5	1	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.679G>T	p.Val227Leu	p.V227L	ENST00000311907	7/14	342	249	93	202	201	1	strelka-varscan-mutect	F2,missense_variant,p.Val227Leu,ENST00000311907,NM_001311257.1,NM_000506.3;F2,missense_variant,p.Val227Leu,ENST00000530231,;F2,missense_variant,p.Val217Leu,ENST00000442468,;F2,non_coding_transcript_exon_variant,,ENST00000490274,;	T	ENST00000311907	Transcript	missense_variant	735/2023	679/1869	227/622	V/L	Gtg/Ttg		1		1	F2	HGNC	HGNC:3535	protein_coding	YES	CCDS31476.1	ENSP00000308541	P00734		UPI0000136ECD	NM_001311257.1,NM_000506.3	deleterious(0.01)		7/14		Gene3D:2.40.20.10,Pfam_domain:PF00051,PIRSF_domain:PIRSF001149,PROSITE_profiles:PS50070,hmmpanther:PTHR24254,hmmpanther:PTHR24254:SF10,SMART_domains:SM00130,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	46725978	46725978	G	T	1	0	0	0	0	1	0	0	0	5210	1261	44	2		2	F2	11	46725978	Missense_Mutation	SNP	G	C3N-02089_TP	15832979	46725978	88360644	604	29401											
LRP4	0	.	GRCh38	chr11	46875548	46875548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgccagtacccttgtcaGcacggtggatgctccgagtc	6	10	12	13	2	1	0	1	0	0	0	3	2	2	1	3	2	5	4	3	2	1	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.3833C>T	p.Ala1278Val	p.A1278V	ENST00000378623	27/38	557	432	125	435	435	0	strelka-varscan-mutect	LRP4,missense_variant,p.Ala1278Val,ENST00000378623,NM_002334.3;LRP4-AS1,downstream_gene_variant,,ENST00000502049,;LRP4-AS1,downstream_gene_variant,,ENST00000531719,;LRP4,upstream_gene_variant,,ENST00000527656,;	A	ENST00000378623	Transcript	missense_variant	4076/8076	3833/5718	1278/1905	A/V	gCt/gTt		1		-1	LRP4	HGNC	HGNC:6696	protein_coding	YES	CCDS31478.1	ENSP00000367888	O75096		UPI0000D625E9	NM_002334.3	tolerated(0.15)		27/38		PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF249,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	46875548	46875548	G	A	1	0	0	0	0	1	0	0	0	8854	971	34	3		3	LRP4	11	46875548	Missense_Mutation	SNP	G	C3N-02089_TP	149570	46875548	88211074	605	29402											
LRP4	0	.	GRCh38	chr11	46902808	46902808	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcctcatcgctgtggtcCccgcagtcattgtctccatc	5	12	7	17	2	3	0	2	0	1	0	8	0	5	0	5	1	0	2	5	1	0	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.174G>A	p.=	p.G58G	ENST00000378623	2/38	330	248	82	230	230	0	strelka-varscan-mutect	LRP4,synonymous_variant,p.=,ENST00000378623,NM_002334.3;LRP4,intron_variant,,ENST00000534404,;	T	ENST00000378623	Transcript	synonymous_variant	417/8076	174/5718	58/1905	G	ggG/ggA		1		-1	LRP4	HGNC	HGNC:6696	protein_coding	YES	CCDS31478.1	ENSP00000367888	O75096		UPI0000D625E9	NM_002334.3			2/38		PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF249,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	46902808	46902808	C	T	1	0	0	0	0	0	0	0	1	8854	610	22	3		3	LRP4	11	46902808	Silent	SNP	C	C3N-02089_TP	27260	46902808	88183814	606	29403											
FNBP4	0	.	GRCh38	chr11	47744046	47744046	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgaacaaacatcttccattTtcctcttttagacataagcc	12	14	3	12	1	2	1	0	0	2	1	5	2	4	1	3	0	3	0	3	0	4	6	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1363A>C	p.Lys455Gln	p.K455Q	ENST00000263773	8/17	467	423	44	351	351	0	strelka-varscan-mutect	FNBP4,missense_variant,p.Lys455Gln,ENST00000263773,NM_001318339.1,NM_015308.2;FNBP4,non_coding_transcript_exon_variant,,ENST00000534003,;FNBP4,non_coding_transcript_exon_variant,,ENST00000527894,;FNBP4,upstream_gene_variant,,ENST00000528388,;FNBP4,non_coding_transcript_exon_variant,,ENST00000544590,;	G	ENST00000263773	Transcript	missense_variant	1376/3972	1363/3054	455/1017	K/Q	Aaa/Caa		1		-1	FNBP4	HGNC	HGNC:19752	protein_coding	YES	CCDS41644.1	ENSP00000263773	Q8N3X1		UPI0000DBEF37	NM_001318339.1,NM_015308.2	deleterious(0)		8/17		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF175																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	47744046	47744046	T	G	1	0	0	0	0	1	0	0	0	5823	1850	64	5		5	FNBP4	11	47744046	Missense_Mutation	SNP	T	C3N-02089_TP	841238	47744046	87342576	607	29404											
OR4C3	0	.	GRCh38	chr11	48325601	48325601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaatacgtatgtcattGgtctgctggtggttgccaac	8	12	11	10	1	2	0	1	0	1	0	2	0	2	0	2	3	4	4	2	3	4	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.661G>T	p.Gly221Cys	p.G221C	ENST00000319856	1/1	210	160	50	158	156	2	strelka-varscan-mutect	OR4C3,missense_variant,p.Gly221Cys,ENST00000319856,NM_001004702.1;OR4C3,missense_variant,p.Gly84Cys,ENST00000611380,;	T	ENST00000319856	Transcript	missense_variant	682/1036	661/990	221/329	G/C	Ggt/Tgt		1		1	OR4C3	HGNC	HGNC:14697	protein_coding	YES	CCDS31489.1	ENSP00000321419	Q8NH37	A0A126GVR6	UPI0000061EA2	NM_001004702.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF162,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	90	48325601	48325601	G	T	1	0	0	0	0	1	0	0	0	11126	1348	47	2		2	OR4C3	11	48325601	Missense_Mutation	SNP	G	C3N-02089_TP	581555	48325601	86761021	608	29405											
OR4A47	0	.	GRCh38	chr11	48488856	48488856	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacacagaatccaaaggagCagaaagtactttttgttatg	15	11	8	7	0	1	2	1	0	0	2	2	3	2	3	1	1	2	3	1	1	5	4	rs767746683		C3N-02089_TP	C3N-02089_NB	C	C																c.64C>G	p.Gln22Glu	p.Q22E	ENST00000446524	1/1	71	46	25	87	87	0	strelka-varscan-mutect	OR4A47,missense_variant,p.Gln22Glu,ENST00000446524,NM_001005512.2;OR4R1P,upstream_gene_variant,,ENST00000529879,;OR4A48P,upstream_gene_variant,,ENST00000531359,;	G	ENST00000446524	Transcript	missense_variant	140/1064	64/930	22/309	Q/E	Cag/Gag	rs767746683	1		1	OR4A47	HGNC	HGNC:31266	protein_coding	YES	CCDS31490.1	ENSP00000412752	Q6IF82		UPI00001971E5	NM_001005512.2	deleterious_low_confidence(0.03)		1/1		hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF87,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs767746683	.												G	3	3	90	48488856	48488856	C	G	1	0	0	0	0	1	0	0	0	11119	711	25	4		4	OR4A47	11	48488856	Missense_Mutation	SNP	C	C3N-02089_TP	163255	48488856	86597766	609	29406											
TRIM64C	0	.	GRCh38	chr11	49056378	49056378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgccgatatatttcccaCatcctgcaaaaaaaataaaa	17	10	3	11	1	0	0	0	0	0	0	2	1	2	0	4	0	2	1	4	0	8	5	rs748374237		C3N-02089_TP	C3N-02089_NB	C	C																c.742G>T	p.Val248Leu	p.V248L	ENST00000617704	4/6	132	97	35	186	186	0	strelka-varscan-mutect	TRIM64C,missense_variant,p.Val248Leu,ENST00000617704,NM_001206631.1;TRIM64C,missense_variant,p.Val245Leu,ENST00000530230,;	A	ENST00000617704	Transcript	missense_variant	742/1353	742/1353	248/450	V/L	Gtg/Ttg	rs748374237	1		-1	TRIM64C	HGNC	HGNC:37148	protein_coding	YES	CCDS73287.1	ENSP00000481815		A0A087WYH8	UPI00006C1130	NM_001206631.1	tolerated(1)		4/6		hmmpanther:PTHR24103:SF354,hmmpanther:PTHR24103																	MODERATE	1	SNV	5			1										PASS		rs748374237	.												A	3	1	90	49056378	49056378	C	A	1	0	0	0	0	1	0	0	0	17033	492	17	2		2	TRIM64C	11	49056378	Missense_Mutation	SNP	C	C3N-02089_TP	567522	49056378	86030244	610	29407											
OR8J3	0	.	GRCh38	chr11	56137411	56137411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atacaataaagaacaagaacCctcccagttgggtggcacat	16	7	8	10	0	0	2	0	0	0	2	1	2	1	2	2	2	3	2	2	2	7	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.308G>T	p.Gly103Val	p.G103V	ENST00000301529	1/1	187	137	50	230	230	0	strelka-varscan-mutect	OR8J3,missense_variant,p.Gly103Val,ENST00000301529,NM_001004064.1;OR5BN1P,upstream_gene_variant,,ENST00000532955,;	A	ENST00000301529	Transcript	missense_variant	308/948	308/948	103/315	G/V	gGg/gTg		1		-1	OR8J3	HGNC	HGNC:15312	protein_coding	YES	CCDS31520.1	ENSP00000301529	Q8NGG0	A0A126GVE3	UPI0000061E99	NM_001004064.1	tolerated(0.35)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF249,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	90	56137411	56137411	C	A	1	0	0	0	0	1	0	0	0	11310	623	22	2		2	OR8J3	11	56137411	Missense_Mutation	SNP	C	C3N-02089_TP	7081033	56137411	78949211	611	29408											
OR4D11	0	.	GRCh38	chr11	59503725	59503725	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcatggtcaccgtgacCtgtgagtctcgccttcacac	7	11	8	15	2	5	2	4	2	1	0	6	2	5	2	3	1	0	0	3	1	0	1	rs544299419		C3N-02089_TP	C3N-02089_NB	C	C																c.150C>A	p.=	p.T50T	ENST00000313253	1/1	105	80	25	143	143	0	strelka-varscan-mutect	OR4D11,synonymous_variant,p.=,ENST00000313253,NM_001004706.1;	A	ENST00000313253	Transcript	synonymous_variant	150/936	150/936	50/311	T	acC/acA	rs544299419	1		1	OR4D11	HGNC	HGNC:15174	protein_coding	YES	CCDS31563.1	ENSP00000320077	Q8NGI4	A0A126GVQ9	UPI0000046486	NM_001004706.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF200,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		rs544299419	.												A	2	1	90	59503725	59503725	C	A	1	0	0	0	0	0	0	0	1	11132	668	24	2		2	OR4D11	11	59503725	Silent	SNP	C	C3N-02089_TP	3366314	59503725	75582897	612	29409											
RAB3IL1	0	.	GRCh38	chr11	61907405	61907405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcaccttgccccgagcCtccttcagctgcttttctga	4	12	8	17	1	3	1	2	1	1	0	4	2	4	1	6	1	4	2	6	1	0	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.426G>T	p.Glu142Asp	p.E142D	ENST00000394836	4/10	297	222	75	256	256	0	strelka-varscan-mutect	RAB3IL1,missense_variant,p.Glu142Asp,ENST00000394836,NM_013401.3;RAB3IL1,missense_variant,p.Glu189Asp,ENST00000301773,NM_001271686.1;RAB3IL1,missense_variant,p.Glu189Asp,ENST00000531922,;RAB3IL1,upstream_gene_variant,,ENST00000530888,;	A	ENST00000394836	Transcript	missense_variant	584/2284	426/1149	142/382	E/D	gaG/gaT		1		-1	RAB3IL1	HGNC	HGNC:9780	protein_coding	YES	CCDS8014.1	ENSP00000378313	Q8TBN0		UPI000007260E	NM_013401.3	deleterious(0)		4/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14430:SF1,hmmpanther:PTHR14430,Pfam_domain:PF06428,Superfamily_domains:0053574																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	61907405	61907405	C	A	1	0	0	0	0	1	0	0	0	13096	680	24	2		2	RAB3IL1	11	61907405	Missense_Mutation	SNP	C	C3N-02089_TP	2403680	61907405	73179217	613	29410											
AHNAK	0	.	GRCh38	chr11	62521950	62521950	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcagggcccttgaggtcgCcttccactttgggcagagaa	7	10	12	12	1	1	2	1	1	0	1	3	3	2	2	3	3	0	1	3	3	1	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.12467G>T	p.Gly4156Val	p.G4156V	ENST00000378024	5/5	332	252	80	359	359	0	strelka-varscan-mutect	AHNAK,missense_variant,p.Gly4156Val,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;	A	ENST00000378024	Transcript	missense_variant	12742/18787	12467/17673	4156/5890	G/V	gGc/gTc		1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2	deleterious(0.02)		5/5		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF41																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	90	62521950	62521950	C	A	1	0	0	0	0	1	0	0	0	491	739	26	2		2	AHNAK	11	62521950	Missense_Mutation	SNP	C	C3N-02089_TP	614545	62521950	72564672	614	29411											
SLC22A9	0	.	GRCh38	chr11	63370137	63370137	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtttttctctcaatcttTgctgttgctacataccttca	7	19	4	11	0	4	0	2	0	2	0	5	0	4	0	1	0	4	4	1	0	3	7	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.81T>G	p.Phe27Leu	p.F27L	ENST00000279178	1/10	152	132	20	151	151	0	strelka-varscan-mutect	SLC22A9,missense_variant,p.Phe27Leu,ENST00000279178,NM_080866.2;SLC22A10,downstream_gene_variant,,ENST00000525620,;SLC22A9,missense_variant,p.Phe27Leu,ENST00000536333,;	G	ENST00000279178	Transcript	missense_variant	330/2343	81/1662	27/553	F/L	ttT/ttG		1		1	SLC22A9	HGNC	HGNC:16261	protein_coding	YES	CCDS8043.1	ENSP00000279178	Q8IVM8		UPI00000745FF	NM_080866.2	tolerated(0.66)		1/10		hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF288,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	63370137	63370137	T	G	1	0	0	0	0	1	0	0	0	14727	1809	63	5		5	SLC22A9	11	63370137	Missense_Mutation	SNP	T	C3N-02089_TP	848187	63370137	71716485	615	29412											
SNX32	0	.	GRCh38	chr11	65852704	65852704	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctggacaaggcgcgcacCaggaaccgggaggtgcggcc	8	2	18	13	5	0	0	0	0	0	0	0	3	0	3	3	6	2	2	3	6	2	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.987C>A	p.=	p.T329T	ENST00000308342	11/13	200	153	47	188	188	0	strelka-varscan-mutect	SNX32,synonymous_variant,p.=,ENST00000308342,NM_152760.2;CFL1,downstream_gene_variant,,ENST00000525451,;CFL1,downstream_gene_variant,,ENST00000308162,NM_005507.2;CFL1,downstream_gene_variant,,ENST00000531407,;CFL1,downstream_gene_variant,,ENST00000527344,;MUS81,upstream_gene_variant,,ENST00000529857,;CFL1,downstream_gene_variant,,ENST00000524553,;CFL1,downstream_gene_variant,,ENST00000532134,;CFL1,downstream_gene_variant,,ENST00000534769,;CFL1,downstream_gene_variant,,ENST00000534784,;CFL1,downstream_gene_variant,,ENST00000530413,;CFL1,downstream_gene_variant,,ENST00000531413,;CFL1,downstream_gene_variant,,ENST00000526975,;CFL1,intron_variant,,ENST00000527752,;SNX32,downstream_gene_variant,,ENST00000531795,;SNX32,non_coding_transcript_exon_variant,,ENST00000530101,;CFL1,downstream_gene_variant,,ENST00000530945,;SNX32,downstream_gene_variant,,ENST00000526972,;SNX32,downstream_gene_variant,,ENST00000531503,;SNX32,downstream_gene_variant,,ENST00000533298,;SNX32,downstream_gene_variant,,ENST00000524729,;SNX32,downstream_gene_variant,,ENST00000533236,;SNX32,downstream_gene_variant,,ENST00000534387,;	A	ENST00000308342	Transcript	synonymous_variant	1412/2003	987/1212	329/403	T	acC/acA		1		1	SNX32	HGNC	HGNC:26423	protein_coding	YES	CCDS8113.2	ENSP00000310620	Q86XE0		UPI000000DAEA	NM_152760.2			11/13		hmmpanther:PTHR10555:SF137,hmmpanther:PTHR10555,Pfam_domain:PF09325,PIRSF_domain:PIRSF036924																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	65852704	65852704	C	A	1	0	0	0	0	0	0	0	1	15223	581	21	2		2	SNX32	11	65852704	Silent	SNP	C	C3N-02089_TP	2482567	65852704	69233918	616	29413											
TSGA10IP	0	.	GRCh38	chr11	65959911	65959911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctgacaggcactacaacCccagcctggacccggagtgc	10	4	11	16	1	0	1	0	1	0	0	0	3	0	3	5	3	5	1	5	3	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1642C>A	p.Pro548Thr	p.P548T	ENST00000532620	8/8	173	148	25	140	140	0	strelka-varscan-mutect	TSGA10IP,missense_variant,p.Pro548Thr,ENST00000532620,NM_152762.2;SART1,upstream_gene_variant,,ENST00000312397,NM_005146.4;SART1,upstream_gene_variant,,ENST00000528573,;TSGA10IP,3_prime_UTR_variant,,ENST00000608857,;TSGA10IP,3_prime_UTR_variant,,ENST00000534740,;SART1,upstream_gene_variant,,ENST00000529532,;SART1,upstream_gene_variant,,ENST00000532333,;SART1,upstream_gene_variant,,ENST00000530251,;	A	ENST00000532620	Transcript	missense_variant	1873/1925	1642/1671	548/556	P/T	Ccc/Acc		1		1	TSGA10IP	HGNC	HGNC:26555	protein_coding	YES	CCDS66138.1	ENSP00000484252	Q3SY00		UPI0000EE47ED	NM_152762.2	deleterious(0)		8/8		hmmpanther:PTHR21501,hmmpanther:PTHR21501:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	65959911	65959911	C	A	1	0	0	0	0	1	0	0	0	17124	623	22	2		2	TSGA10IP	11	65959911	Missense_Mutation	SNP	C	C3N-02089_TP	107207	65959911	69126711	617	29414											
ACY3	0	.	GRCh38	chr11	67646875	67646875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcagccggatgtggCtgccgggttggccagcacag	5	5	19	12	4	0	0	0	0	0	0	0	1	0	1	3	6	3	4	3	6	0	1			C3N-02089_TP	C3N-02089_NB	C	C																c.169G>T	p.Ala57Ser	p.A57S	ENST00000255082	3/8	189	153	36	132	132	0	strelka-varscan-mutect	ACY3,missense_variant,p.Ala57Ser,ENST00000255082,NM_080658.1;ACY3,5_prime_UTR_variant,,ENST00000529256,;AP003385.2,downstream_gene_variant,,ENST00000426387,;	A	ENST00000255082	Transcript	missense_variant	340/1300	169/960	57/319	A/S	Gcc/Tcc	COSM4659239	1		-1	ACY3	HGNC	HGNC:24104	protein_coding	YES	CCDS8175.1	ENSP00000255082	Q96HD9	A0A024R5L2	UPI0000073C5C	NM_080658.1	deleterious(0)		3/8		HAMAP:MF_00704,hmmpanther:PTHR15162:SF5,hmmpanther:PTHR15162,Pfam_domain:PF04952,PIRSF_domain:PIRSF018001,Gene3D:3.40.630.10,Superfamily_domains:SSF53187											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	90	67646875	67646875	C	A	1	0	0	0	0	1	0	0	0	271	797	28	2		2	ACY3	11	67646875	Missense_Mutation	SNP	C	C3N-02089_TP	1686964	67646875	67439747	618	29415											
CPT1A	0	.	GRCh38	chr11	68786036	68786036	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgatcaaggcagatcgtCtagtgaggaagacaaataaa	17	7	11	6	1	2	4	1	2	1	2	3	5	2	5	0	2	1	2	0	2	6	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.224-1G>T		p.X75_splice	ENST00000538994		221	208	13	170	169	1	strelka-varscan	CPT1A,splice_acceptor_variant,,ENST00000538994,;CPT1A,intron_variant,,ENST00000265641,NM_001876.3;CPT1A,intron_variant,,ENST00000376618,NM_001031847.2;CPT1A,intron_variant,,ENST00000540367,;CPT1A,intron_variant,,ENST00000539743,;	A	ENST00000538994	Transcript	splice_acceptor_variant	-/617	224/237	75/78				1		-1	CPT1A	HGNC	HGNC:2328	protein_coding			ENSP00000454332		H3BMD2	UPI00024674E8					4/4																		HIGH		SNV	5			1										PASS		.	.												A	5	1	90	68786036	68786036	C	A	1	0	0	0	0	0	0	1	0	3628	927	32	2		2	CPT1A	11	68786036	Splice_Site	SNP	C	C3N-02089_TP	1139161	68786036	66300586	619	29416											
CPT1A	0	.	GRCh38	chr11	68815465	68815465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggccacagcttggtgagCttctgccatcttcagagagt	10	10	11	10	0	3	2	1	1	2	1	3	3	3	2	2	2	3	2	2	2	1	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.10G>T	p.Ala4Ser	p.A4S	ENST00000265641	2/19	388	331	57	311	310	1	strelka-varscan-mutect	CPT1A,missense_variant,p.Ala4Ser,ENST00000265641,NM_001876.3;CPT1A,missense_variant,p.Ala4Ser,ENST00000376618,NM_001031847.2;CPT1A,missense_variant,p.Ala4Ser,ENST00000540367,;CPT1A,missense_variant,p.Ala4Ser,ENST00000539743,;CPT1A,missense_variant,p.Ala4Ser,ENST00000561996,;CPT1A,missense_variant,p.Ala4Ser,ENST00000565318,;CPT1A,missense_variant,p.Ala4Ser,ENST00000569129,;	A	ENST00000265641	Transcript	missense_variant	165/5232	10/2322	4/773	A/S	Gct/Tct		1		-1	CPT1A	HGNC	HGNC:2328	protein_coding	YES	CCDS8185.1	ENSP00000265641	P50416	A0A024R5F4	UPI000013D658	NM_001876.3	deleterious(0)		2/19		Pfam_domain:PF16484																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	68815465	68815465	C	A	1	0	0	0	0	1	0	0	0	3628	797	28	2		2	CPT1A	11	68815465	Missense_Mutation	SNP	C	C3N-02089_TP	29429	68815465	66271157	620	29417											
P4HA3	0	.	GRCh38	chr11	74267161	74267161	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcttccaggaggctgcTctgctttctcctctcctacc	3	14	7	17	0	4	0	0	0	4	0	7	1	5	1	5	2	3	3	5	2	1	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1715A>T	p.Glu572Val	p.E572V	ENST00000427714	13/13	516	461	55	364	363	1	strelka-varscan-mutect	P4HA3,missense_variant,p.Glu572Val,ENST00000427714,NM_001288748.1;P4HA3,3_prime_UTR_variant,,ENST00000331597,NM_182904.4;P4HA3,3_prime_UTR_variant,,ENST00000525968,;P4HA3,intron_variant,,ENST00000524388,;P4HA3,intron_variant,,ENST00000532689,;	A	ENST00000427714	Transcript	missense_variant	1744/2248	1715/1815	572/604	E/V	gAg/gTg		1		-1	P4HA3	HGNC	HGNC:30135	protein_coding	YES	CCDS73347.1	ENSP00000401749	Q7Z4N8		UPI00017A7E1B	NM_001288748.1	deleterious_low_confidence(0)		13/13																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	90	74267161	74267161	T	A	1	0	0	0	0	1	0	0	0	11435	1551	54	4		4	P4HA3	11	74267161	Missense_Mutation	SNP	T	C3N-02089_TP	5451696	74267161	60819461	621	29418											
SLCO2B1	0	.	GRCh38	chr11	75165804	75165804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtggggaacacagccttGattgtgtttgtgagctattt	8	14	13	6	0	0	2	0	2	0	0	0	3	0	3	1	3	3	2	1	3	2	5	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.303G>T	p.Leu101Phe	p.L101F	ENST00000289575	4/14	141	104	37	125	125	0	strelka-varscan-mutect	SLCO2B1,missense_variant,p.Leu101Phe,ENST00000289575,NM_007256.4;SLCO2B1,missense_variant,p.Leu79Phe,ENST00000428359,NM_001145211.2;SLCO2B1,missense_variant,p.Leu79Phe,ENST00000531713,;SLCO2B1,missense_variant,p.Leu79Phe,ENST00000534186,;SLCO2B1,missense_variant,p.Leu79Phe,ENST00000527180,;SLCO2B1,5_prime_UTR_variant,,ENST00000454962,;SLCO2B1,5_prime_UTR_variant,,ENST00000532236,;SLCO2B1,intron_variant,,ENST00000525650,NM_001145212.2;SLCO2B1,upstream_gene_variant,,ENST00000526839,;SLCO2B1,downstream_gene_variant,,ENST00000534004,;SLCO2B1,downstream_gene_variant,,ENST00000525845,;SLCO2B1,downstream_gene_variant,,ENST00000530556,;SLCO2B1,intron_variant,,ENST00000526660,;SLCO2B1,intron_variant,,ENST00000531756,;SLCO2B1,downstream_gene_variant,,ENST00000531457,;	T	ENST00000289575	Transcript	missense_variant	698/4494	303/2130	101/709	L/F	ttG/ttT		1		1	SLCO2B1	HGNC	HGNC:10962	protein_coding	YES	CCDS8235.1	ENSP00000289575		A0A024R5I4	UPI000000D99A	NM_007256.4	deleterious(0.02)		4/14		Gene3D:1.20.1250.20,Pfam_domain:PF03137,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF87,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	75165804	75165804	G	T	1	0	0	0	0	1	0	0	0	15014	1281	45	2		2	SLCO2B1	11	75165804	Missense_Mutation	SNP	G	C3N-02089_TP	898643	75165804	59920818	622	29419											
MOGAT2	0	.	GRCh38	chr11	75731173	75731173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaagacgctgcatccctcgGaggaggaggtgaaccagctg	11	5	15	10	2	0	3	0	1	0	2	2	6	1	6	2	4	3	3	2	4	2	0			C3N-02089_TP	C3N-02089_NB	G	G																c.892G>A	p.Glu298Lys	p.E298K	ENST00000198801	6/6	214	187	27	165	165	0	strelka-varscan-mutect	MOGAT2,missense_variant,p.Glu216Lys,ENST00000526712,;MOGAT2,missense_variant,p.Glu298Lys,ENST00000198801,NM_025098.2;MOGAT2,non_coding_transcript_exon_variant,,ENST00000624180,;MOGAT2,3_prime_UTR_variant,,ENST00000525093,;	A	ENST00000198801	Transcript	missense_variant	962/1404	892/1005	298/334	E/K	Gag/Aag	COSM1298624	1		1	MOGAT2	HGNC	HGNC:23248	protein_coding	YES	CCDS8240.1	ENSP00000198801	Q3SYC2		UPI000000D839	NM_025098.2	tolerated(0.33)		6/6		Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF5											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	90	75731173	75731173	G	A	1	0	0	0	0	1	0	0	0	9658	1175	41	3		3	MOGAT2	11	75731173	Missense_Mutation	SNP	G	C3N-02089_TP	565369	75731173	59355449	623	29420											
MOGAT2	0	.	GRCh38	chr11	75731184	75731184	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccctcggaggaggaggtGaaccagctgcaccagcgtta	10	6	13	12	2	0	1	0	1	0	0	2	4	1	4	3	4	4	3	3	4	2	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.903G>T	p.=	p.V301V	ENST00000198801	6/6	242	208	34	189	189	0	strelka-varscan-mutect	MOGAT2,synonymous_variant,p.=,ENST00000526712,;MOGAT2,synonymous_variant,p.=,ENST00000198801,NM_025098.2;MOGAT2,non_coding_transcript_exon_variant,,ENST00000624180,;MOGAT2,3_prime_UTR_variant,,ENST00000525093,;	T	ENST00000198801	Transcript	synonymous_variant	973/1404	903/1005	301/334	V	gtG/gtT		1		1	MOGAT2	HGNC	HGNC:23248	protein_coding	YES	CCDS8240.1	ENSP00000198801	Q3SYC2		UPI000000D839	NM_025098.2			6/6		Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF5																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	75731184	75731184	G	T	1	0	0	0	0	0	0	0	1	9658	1277	45	2		2	MOGAT2	11	75731184	Silent	SNP	G	C3N-02089_TP	11	75731184	59355438	624	29421											
LRRC32	0	.	GRCh38	chr11	76660310	76660310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaggggccaggctcatctGgccccccacaggggctgact	6	5	15	15	1	2	1	1	1	1	0	2	2	2	2	4	7	0	2	4	7	0	0			C3N-02089_TP	C3N-02089_NB	G	G																c.1283C>A	p.Pro428Gln	p.P428Q	ENST00000407242	3/3	69	56	13	58	58	0	strelka-varscan-mutect	LRRC32,missense_variant,p.Pro428Gln,ENST00000407242,NM_005512.2;LRRC32,missense_variant,p.Pro428Gln,ENST00000260061,NM_001128922.1;LRRC32,missense_variant,p.Pro428Gln,ENST00000404995,;LRRC32,downstream_gene_variant,,ENST00000421973,;RP11-672A2.4,upstream_gene_variant,,ENST00000531511,;AP001189.4,intron_variant,,ENST00000447519,;LRRC32,intron_variant,,ENST00000464145,;	T	ENST00000407242	Transcript	missense_variant	1526/4311	1283/1989	428/662	P/Q	cCa/cAa	COSM1322154	1		-1	LRRC32	HGNC	HGNC:4161	protein_coding	YES	CCDS8245.1	ENSP00000384126	Q14392	A0A024R5J7	UPI000012B0DF	NM_005512.2	tolerated(0.37)		3/3		PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF337,SMART_domains:SM00368,Superfamily_domains:SSF52058											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	90	76660310	76660310	G	T	1	0	0	0	0	1	0	0	0	8882	1348	47	2		2	LRRC32	11	76660310	Missense_Mutation	SNP	G	C3N-02089_TP	929126	76660310	58426312	625	29422											
B3GNT6	0	.	GRCh38	chr11	77039651	77039651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagtggttcctccaggcgCcaaggtccccgcgggaggag	7	5	16	13	3	0	0	0	0	0	0	3	2	3	2	5	5	1	2	5	5	1	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.100C>T	p.Pro34Ser	p.P34S	ENST00000622824	2/2	187	151	36	130	130	0	strelka-varscan-mutect	B3GNT6,missense_variant,p.Pro34Ser,ENST00000622824,NM_138706.4;B3GNT6,missense_variant,p.Pro34Ser,ENST00000528622,;	T	ENST00000622824	Transcript	missense_variant	181/2503	100/1155	34/384	P/S	Cca/Tca		1		1	B3GNT6	HGNC	HGNC:24141	protein_coding	YES	CCDS53681.1	ENSP00000484640	Q6ZMB0	A8K9Q8	UPI000006D55A	NM_138706.4	tolerated(0.97)		2/2		hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF24,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	77039651	77039651	C	T	1	0	0	0	0	1	0	0	0	1417	739	26	3		3	B3GNT6	11	77039651	Missense_Mutation	SNP	C	C3N-02089_TP	379341	77039651	58046971	626	29423											
MYO7A	0	.	GRCh38	chr11	77192180	77192180	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccgcaaagaggtcttcAcgccctggcacagcccctcc	7	8	8	18	2	3	1	1	0	2	1	5	1	5	1	5	2	1	2	5	2	1	2	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.4054A>G	p.Thr1352Ala	p.T1352A	ENST00000409709	31/49	450	386	64	367	367	0	strelka-varscan-mutect	MYO7A,missense_variant,p.Thr1352Ala,ENST00000409709,NM_000260.3;MYO7A,missense_variant,p.Thr1352Ala,ENST00000458637,NM_001127180.1;MYO7A,missense_variant,p.Thr1341Ala,ENST00000409619,;MYO7A,missense_variant,p.Thr533Ala,ENST00000458169,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;MYO7A,downstream_gene_variant,,ENST00000467137,;	G	ENST00000409709	Transcript	missense_variant	4326/7462	4054/6648	1352/2215	T/A	Acg/Gcg		1		1	MYO7A	HGNC	HGNC:7606	protein_coding	YES	CCDS53683.1	ENSP00000386331	Q13402		UPI00001FAFE6	NM_000260.3	tolerated(0.23)		31/49		PROSITE_profiles:PS50057,Gene3D:1.20.80.10,SMART_domains:SM00295,Superfamily_domains:SSF47031,Superfamily_domains:SSF54236																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	77192180	77192180	A	G	1	0	0	0	0	1	0	0	0	10083	159	6	5		5	MYO7A	11	77192180	Missense_Mutation	SNP	A	C3N-02089_TP	152529	77192180	57894442	627	29424											
DLG2	0	.	GRCh38	chr11	83930337	83930337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcagtacctggtcatcTcagagtcaggtagcaggcct	9	9	12	11	0	3	1	3	0	1	1	4	1	3	1	2	3	3	5	2	3	2	2	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1487A>G	p.Glu496Gly	p.E496G	ENST00000376104	15/28	142	125	17	136	136	0	strelka-varscan-mutect	DLG2,missense_variant,p.Glu391Gly,ENST00000398309,NM_001364.3;DLG2,missense_variant,p.Glu430Gly,ENST00000280241,NM_001206769.1;DLG2,missense_variant,p.Glu496Gly,ENST00000376104,NM_001142699.1;DLG2,missense_variant,p.Glu358Gly,ENST00000531015,;DLG2,missense_variant,p.Glu391Gly,ENST00000532653,NM_001300983.1;DLG2,missense_variant,p.Glu391Gly,ENST00000524982,;DLG2,missense_variant,p.Glu330Gly,ENST00000330014,;DLG2,missense_variant,p.Glu430Gly,ENST00000398301,;DLG2,intron_variant,,ENST00000418306,NM_001142700.1;DLG2,non_coding_transcript_exon_variant,,ENST00000529111,;	C	ENST00000376104	Transcript	missense_variant	1799/5139	1487/2928	496/975	E/G	gAg/gGg		1		-1	DLG2	HGNC	HGNC:2901	protein_coding	YES	CCDS44690.1	ENSP00000365272	Q15700		UPI0000E59399	NM_001142699.1	tolerated(0.1)		15/28		PIRSF_domain:PIRSF001741																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	83930337	83930337	T	C	1	0	0	0	0	1	0	0	0	4362	1551	54	5		5	DLG2	11	83930337	Missense_Mutation	SNP	T	C3N-02089_TP	6738157	83930337	51156285	628	29425											
DLG2	0	.	GRCh38	chr11	83980639	83980639	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctgcaatactgaagcctAaacctataagaaaggaacag	17	7	7	10	0	0	2	0	1	0	1	1	3	1	3	3	1	5	1	3	1	9	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.923T>A	p.Leu308Ter	p.L308*	ENST00000376104	12/28	91	68	23	64	64	0	strelka-varscan-mutect	DLG2,stop_gained,p.Leu203Ter,ENST00000398309,NM_001364.3;DLG2,stop_gained,p.Leu242Ter,ENST00000280241,NM_001206769.1;DLG2,stop_gained,p.Leu308Ter,ENST00000376104,NM_001142699.1;DLG2,stop_gained,p.Leu152Ter,ENST00000418306,NM_001142700.1;DLG2,stop_gained,p.Leu170Ter,ENST00000531015,;DLG2,stop_gained,p.Leu203Ter,ENST00000532653,NM_001300983.1;DLG2,stop_gained,p.Leu203Ter,ENST00000524982,;DLG2,stop_gained,p.Leu142Ter,ENST00000330014,;DLG2,stop_gained,p.Leu242Ter,ENST00000398301,;DLG2,stop_gained,p.Leu120Ter,ENST00000398299,;DLG2,non_coding_transcript_exon_variant,,ENST00000524941,;DLG2,non_coding_transcript_exon_variant,,ENST00000529111,;	T	ENST00000376104	Transcript	stop_gained	1235/5139	923/2928	308/975	L/*	tTa/tAa		1		-1	DLG2	HGNC	HGNC:2901	protein_coding	YES	CCDS44690.1	ENSP00000365272	Q15700		UPI0000E59399	NM_001142699.1			12/28		PROSITE_profiles:PS50106,hmmpanther:PTHR23119:SF6,hmmpanther:PTHR23119,PIRSF_domain:PIRSF001741,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	90	83980639	83980639	A	T	1	0	0	0	0	0	1	0	0	4362	376	13	4		4	DLG2	11	83980639	Nonsense_Mutation	SNP	A	C3N-02089_TP	50302	83980639	51105983	629	29426											
TMEM135	0	.	GRCh38	chr11	87091376	87091376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggagagggctgctcaCaatttatatggccaacttgg	10	11	12	8	0	1	1	1	0	0	1	1	2	1	1	1	4	3	3	1	4	4	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.377C>A	p.Thr126Lys	p.T126K	ENST00000305494	4/15	269	227	42	303	303	0	strelka-varscan-mutect	TMEM135,missense_variant,p.Thr126Lys,ENST00000340353,NM_001168724.1;TMEM135,missense_variant,p.Thr126Lys,ENST00000305494,NM_022918.3;TMEM135,missense_variant,p.Thr126Lys,ENST00000525018,;TMEM135,missense_variant,p.Thr95Lys,ENST00000526733,;TMEM135,intron_variant,,ENST00000532959,;TMEM135,non_coding_transcript_exon_variant,,ENST00000529023,;TMEM135,non_coding_transcript_exon_variant,,ENST00000531800,;RP11-648O15.1,downstream_gene_variant,,ENST00000527404,;	A	ENST00000305494	Transcript	missense_variant	416/2433	377/1377	126/458	T/K	aCa/aAa		1		1	TMEM135	HGNC	HGNC:26167	protein_coding	YES	CCDS8280.1	ENSP00000306344	Q86UB9		UPI00001FB0C7	NM_022918.3	deleterious(0.03)		4/15		hmmpanther:PTHR12459,hmmpanther:PTHR12459:SF3,Pfam_domain:PF15982																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	87091376	87091376	C	A	1	0	0	0	0	1	0	0	0	16496	478	17	2		2	TMEM135	11	87091376	Missense_Mutation	SNP	C	C3N-02089_TP	3110737	87091376	47995246	630	29427											
GRM5	0	.	GRCh38	chr11	88567838	88567838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggataatgtagcagagttcCctgcttgaggacttgactac	11	11	11	8	0	0	3	0	2	0	1	1	5	1	5	1	2	3	4	1	2	3	6			C3N-02089_TP	C3N-02089_NB	C	C																c.1845G>A	p.=	p.R615R	ENST00000305447	7/9	323	272	51	233	232	1	strelka-varscan-mutect	GRM5,synonymous_variant,p.=,ENST00000455756,NM_000842.4;GRM5,synonymous_variant,p.=,ENST00000305447,NM_001143831.2;GRM5,synonymous_variant,p.=,ENST00000305432,;	T	ENST00000305447	Transcript	synonymous_variant	1995/4571	1845/3639	615/1212	R	agG/agA	COSM5613467,COSM5613468	1		-1	GRM5	HGNC	HGNC:4597	protein_coding	YES	CCDS44694.1	ENSP00000306138	P41594		UPI000012F081	NM_001143831.2			7/9		Pfam_domain:PF00003,Prints_domain:PR00248,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	90	88567838	88567838	C	T	1	0	0	0	0	0	0	0	1	6682	622	22	3		3	GRM5	11	88567838	Silent	SNP	C	C3N-02089_TP	1476462	88567838	46518784	631	29428											
CEP295	0	.	GRCh38	chr11	93697551	93697551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaaacagaaagaagtggAacagcaaacgggcctctcgg	15	4	13	9	2	1	2	0	0	1	2	2	3	1	3	1	3	5	2	1	3	5	0	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.2639A>G	p.Glu880Gly	p.E880G	ENST00000325212	15/30	170	148	22	163	163	0	strelka-varscan-mutect	CEP295,missense_variant,p.Glu880Gly,ENST00000325212,NM_033395.1;CEP295,intron_variant,,ENST00000531700,;CEP295,upstream_gene_variant,,ENST00000530425,;CEP295,downstream_gene_variant,,ENST00000531877,;CEP295,downstream_gene_variant,,ENST00000531622,;	G	ENST00000325212	Transcript	missense_variant	2801/8057	2639/7806	880/2601	E/G	gAa/gGa		1		1	CEP295	HGNC	HGNC:29366	protein_coding	YES	CCDS44708.1	ENSP00000316681	Q9C0D2		UPI0000251F0E	NM_033395.1	tolerated(0.11)		15/30		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF25																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	90	93697551	93697551	A	G	1	0	0	0	0	1	0	0	0	2970	246	9	5		5	CEP295	11	93697551	Missense_Mutation	SNP	A	C3N-02089_TP	5129713	93697551	41389071	632	29429											
HEPHL1	0	.	GRCh38	chr11	94073077	94073077	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaataggaggaaaatacTggaaggttcggtatactgaa	17	8	12	4	1	0	2	0	1	0	1	1	5	0	5	0	5	2	2	0	5	9	5	rs745921937		C3N-02089_TP	C3N-02089_NB	T	T																c.1285T>A	p.Trp429Arg	p.W429R	ENST00000315765	7/20	208	165	43	175	175	0	strelka-varscan-mutect	HEPHL1,missense_variant,p.Trp429Arg,ENST00000315765,NM_001098672.1;	A	ENST00000315765	Transcript	missense_variant	1293/5345	1285/3480	429/1159	W/R	Tgg/Agg	rs745921937	1		1	HEPHL1	HGNC	HGNC:30477	protein_coding	YES	CCDS44710.1	ENSP00000313699	Q6MZM0		UPI0000237563	NM_001098672.1	tolerated(0.36)		7/20		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF655,Gene3D:2.60.40.420,Superfamily_domains:SSF49503																	MODERATE	1	SNV	5			1										PASS		rs745921937	.												A	3	1	90	94073077	94073077	T	A	1	0	0	0	0	1	0	0	0	6939	1580	55	4		4	HEPHL1	11	94073077	Missense_Mutation	SNP	T	C3N-02089_TP	375526	94073077	41013545	633	29430											
C11orf88	0	.	GRCh38	chr11	111514914	111514914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaagcagttctggatctcgGcgtcgatgtatccccctagc	7	11	10	13	3	2	0	0	0	2	0	5	2	3	1	2	2	2	3	2	2	3	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.130G>T	p.Ala44Ser	p.A44S	ENST00000332814	1/7	516	403	113	411	410	1	strelka-varscan-mutect	C11orf88,missense_variant,p.Ala44Ser,ENST00000529167,;C11orf88,missense_variant,p.Ala44Ser,ENST00000332814,NM_207430.2;C11orf88,missense_variant,p.Ala44Ser,ENST00000375618,NM_001100388.1;BTG4,upstream_gene_variant,,ENST00000525791,;BTG4,upstream_gene_variant,,ENST00000356018,NM_017589.3;BTG4,upstream_gene_variant,,ENST00000456861,;MIR34B,downstream_gene_variant,,ENST00000385076,;MIR34C,downstream_gene_variant,,ENST00000384831,;RP11-794P6.6,non_coding_transcript_exon_variant,,ENST00000530283,;C11orf88,upstream_gene_variant,,ENST00000529661,;	T	ENST00000332814	Transcript	missense_variant	130/795	130/591	44/196	A/S	Gcg/Tcg		1		1	C11orf88	HGNC	HGNC:25061	protein_coding	YES	CCDS41712.1	ENSP00000333845	Q6PI97		UPI00001D7746	NM_207430.2	deleterious(0)		1/7		hmmpanther:PTHR16213,hmmpanther:PTHR16213:SF61																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	90	111514914	111514914	G	T	1	0	0	0	0	1	0	0	0	1800	1203	42	2		2	C11orf88	11	111514914	Missense_Mutation	SNP	G	C3N-02089_TP	17441837	111514914	23571708	634	29431											
HTR3A	0	.	GRCh38	chr11	113986541	113986541	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatccgccggcggcccctCttctatgtggtcagcctgct	3	11	11	16	3	4	0	2	0	2	0	5	0	5	0	5	3	2	1	5	3	1	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.747C>A	p.=	p.L249L	ENST00000355556	7/8	286	220	66	251	251	0	strelka-varscan-mutect	HTR3A,synonymous_variant,p.=,ENST00000504030,;HTR3A,synonymous_variant,p.=,ENST00000355556,NM_213621.3;HTR3A,synonymous_variant,p.=,ENST00000375498,NM_000869.5;HTR3A,synonymous_variant,p.=,ENST00000506841,;HTR3A,synonymous_variant,p.=,ENST00000299961,NM_001161772.2;HTR3A,missense_variant,p.Leu190Ile,ENST00000510849,;HTR3A,non_coding_transcript_exon_variant,,ENST00000502622,;	A	ENST00000355556	Transcript	synonymous_variant	980/2331	747/1551	249/516	L	ctC/ctA		1		1	HTR3A	HGNC	HGNC:5297	protein_coding	YES	CCDS8366.2	ENSP00000347754	P46098		UPI000013F7F1	NM_213621.3			7/8		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF52,Gene3D:1.20.120.370,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR00252																	LOW	1	SNV	2			1										PASS		rs1178120840	.												A	2	1	90	113986541	113986541	C	A	1	0	0	0	0	0	0	0	1	7340	900	32	2		2	HTR3A	11	113986541	Silent	SNP	C	C3N-02089_TP	2471627	113986541	21100081	635	29432											
DSCAML1	0	.	GRCh38	chr11	117437396	117437396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagaggtgttggtctttGctgaaggagggctctggcag	7	11	18	5	0	2	3	0	2	2	1	2	4	2	4	0	5	1	4	0	5	2	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.4626C>A	p.Ser1542Arg	p.S1542R	ENST00000321322	26/33	145	98	47	84	84	0	strelka-varscan-mutect	DSCAML1,missense_variant,p.Ser1542Arg,ENST00000321322,NM_020693.3;DSCAML1,missense_variant,p.Ser1272Arg,ENST00000527706,;	T	ENST00000321322	Transcript	missense_variant	4628/6899	4626/6342	1542/2113	S/R	agC/agA		1		-1	DSCAML1	HGNC	HGNC:14656	protein_coding	YES	CCDS8384.1	ENSP00000315465	Q8TD84		UPI00000726E2	NM_020693.3	deleterious(0.01)		26/33		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	117437396	117437396	G	T	1	0	0	0	0	1	0	0	0	4590	1310	46	2		2	DSCAML1	11	117437396	Missense_Mutation	SNP	G	C3N-02089_TP	3450855	117437396	17649226	636	29433											
FXYD2	0	.	GRCh38	chr11	117822708	117822708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgggtccacgtcccccttgGggctgccgcctaggagagag	6	6	15	14	3	0	1	0	0	0	1	2	3	2	2	5	4	1	1	5	4	1	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.35C>A	p.Pro12His	p.P12H	ENST00000292079	2/6	372	297	75	283	281	2	strelka-varscan-mutect	FXYD2,missense_variant,p.Pro10His,ENST00000528014,;FXYD6-FXYD2,missense_variant,p.Pro90His,ENST00000614497,NM_001204268.1;FXYD2,missense_variant,p.Pro12His,ENST00000292079,NM_001680.4;FXYD2,missense_variant,p.Pro10His,ENST00000532119,;FXYD2,missense_variant,p.Pro10His,ENST00000260287,NM_021603.3;FXYD6-FXYD2,synonymous_variant,p.=,ENST00000532984,NM_001243598.2;RP11-728F11.3,downstream_gene_variant,,ENST00000531850,;FXYD2,upstream_gene_variant,,ENST00000514385,;FXYD2,non_coding_transcript_exon_variant,,ENST00000317594,;FXYD2,non_coding_transcript_exon_variant,,ENST00000534383,;FXYD2,non_coding_transcript_exon_variant,,ENST00000533281,;	T	ENST00000292079	Transcript	missense_variant	101/571	35/201	12/66	P/H	cCc/cAc		1		-1	FXYD2	HGNC	HGNC:4026	protein_coding	YES	CCDS8386.1	ENSP00000292079	P54710		UPI00001262A8	NM_001680.4	deleterious(0)		2/6		Gene3D:1.20.5.780,hmmpanther:PTHR14132,hmmpanther:PTHR14132:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	117822708	117822708	G	T	1	0	0	0	0	1	0	0	0	5989	1232	43	2		2	FXYD2	11	117822708	Missense_Mutation	SNP	G	C3N-02089_TP	385312	117822708	17263914	637	29434											
FOXR1	0	.	GRCh38	chr11	118978839	118978839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attacccctagagaaaaaacCcaaccctgataaggatggta	17	7	7	10	0	0	2	0	1	0	1	0	4	0	3	4	2	3	1	4	2	8	4			C3N-02089_TP	C3N-02089_NB	C	C																c.119C>A	p.Pro40His	p.P40H	ENST00000317011	2/6	322	275	47	275	275	0	strelka-varscan-mutect	FOXR1,missense_variant,p.Pro40His,ENST00000317011,NM_181721.2;FOXR1,missense_variant,p.Pro21His,ENST00000533282,;FOXR1,missense_variant,p.Pro40His,ENST00000531539,;	A	ENST00000317011	Transcript	missense_variant	344/1159	119/879	40/292	P/H	cCc/cAc	COSM466425	1		1	FOXR1	HGNC	HGNC:29980	protein_coding	YES	CCDS31688.1	ENSP00000314806	Q6PIV2		UPI0000192103	NM_181721.2	deleterious(0.01)		2/6		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF152,Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	90	118978839	118978839	C	A	1	0	0	0	0	1	0	0	0	5896	623	22	2		2	FOXR1	11	118978839	Missense_Mutation	SNP	C	C3N-02089_TP	1156131	118978839	16107783	638	29435											
GRIK4	0	.	GRCh38	chr11	120956872	120956872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgggcaacagcctctGgtttccggtcggggggttca	4	10	14	13	2	2	0	1	0	1	0	5	0	4	0	3	6	2	3	3	6	1	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1793G>T	p.Trp598Leu	p.W598L	ENST00000527524	16/21	153	141	12	107	107	0	strelka-varscan-mutect	GRIK4,missense_variant,p.Trp598Leu,ENST00000527524,NM_014619.4;GRIK4,missense_variant,p.Trp598Leu,ENST00000438375,NM_001282473.2,NM_001282470.2;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;	T	ENST00000527524	Transcript	missense_variant	2080/5802	1793/2871	598/956	W/L	tGg/tTg		1		1	GRIK4	HGNC	HGNC:4582	protein_coding	YES	CCDS8433.1	ENSP00000435648	Q16099		UPI000013DB8D	NM_014619.4	deleterious(0)		16/21		Transmembrane_helices:TMhelix,hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	90	120956872	120956872	G	T	1	0	0	0	0	1	0	0	0	6658	1357	47	2		2	GRIK4	11	120956872	Missense_Mutation	SNP	G	C3N-02089_TP	1978033	120956872	14129750	639	29436											
GRIK4	0	.	GRCh38	chr11	120960972	120960972	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcagccttcctgaccgtGcagcgcatggatgtgcccat	6	9	12	14	2	0	1	0	1	0	0	1	2	1	2	4	2	4	3	4	2	0	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1938G>T	p.=	p.V646V	ENST00000527524	17/21	295	232	63	184	183	1	strelka-varscan-mutect	GRIK4,synonymous_variant,p.=,ENST00000527524,NM_014619.4;GRIK4,synonymous_variant,p.=,ENST00000438375,NM_001282473.2,NM_001282470.2;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;	T	ENST00000527524	Transcript	synonymous_variant	2225/5802	1938/2871	646/956	V	gtG/gtT		1		1	GRIK4	HGNC	HGNC:4582	protein_coding	YES	CCDS8433.1	ENSP00000435648	Q16099		UPI000013DB8D	NM_014619.4			17/21		Transmembrane_helices:TMhelix,hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079,Prints_domain:PR00177																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	90	120960972	120960972	G	T	1	0	0	0	0	0	0	0	1	6658	1306	46	2		2	GRIK4	11	120960972	Silent	SNP	G	C3N-02089_TP	4100	120960972	14125650	640	29437											
CRTAM	0	.	GRCh38	chr11	122851756	122851756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctctccatcactgtgcCtaacgtaaccctgcaagatg	10	10	7	14	1	3	1	2	0	1	1	4	1	3	1	3	0	5	3	3	0	3	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.257C>T	p.Pro86Leu	p.P86L	ENST00000227348	3/10	359	290	69	300	300	0	strelka-varscan-mutect	CRTAM,missense_variant,p.Pro86Leu,ENST00000227348,NM_019604.3;	T	ENST00000227348	Transcript	missense_variant	304/2469	257/1182	86/393	P/L	cCt/cTt		1		1	CRTAM	HGNC	HGNC:24313	protein_coding	YES	CCDS8437.1	ENSP00000227348	O95727		UPI000013C8B4	NM_019604.3	tolerated(0.24)		3/10		PROSITE_profiles:PS50835,hmmpanther:PTHR23277:SF48,hmmpanther:PTHR23277,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	122851756	122851756	C	T	1	0	0	0	0	1	0	0	0	3699	681	24	3		3	CRTAM	11	122851756	Missense_Mutation	SNP	C	C3N-02089_TP	1890784	122851756	12234866	641	29438											
GRAMD1B	0	.	GRCh38	chr11	123613635	123613635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccacagatgaggatgtggGccacaggatcaaacatgtgg	12	6	14	9	0	1	2	1	1	0	1	1	4	1	4	2	4	1	0	2	4	1	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1796G>T	p.Gly599Val	p.G599V	ENST00000456860	16/21	145	108	37	106	105	1	strelka-varscan-mutect	GRAMD1B,missense_variant,p.Gly592Val,ENST00000529750,NM_020716.2;GRAMD1B,missense_variant,p.Gly552Val,ENST00000529432,NM_001286564.1;GRAMD1B,missense_variant,p.Gly552Val,ENST00000638157,;GRAMD1B,missense_variant,p.Gly735Val,ENST00000635736,;GRAMD1B,missense_variant,p.Gly599Val,ENST00000456860,NM_001286563.1;GRAMD1B,missense_variant,p.Gly621Val,ENST00000638086,;GRAMD1B,missense_variant,p.Gly592Val,ENST00000322282,;GRAMD1B,missense_variant,p.Gly283Val,ENST00000450171,;GRAMD1B,downstream_gene_variant,,ENST00000534764,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000525945,;	T	ENST00000456860	Transcript	missense_variant	2309/2805	1796/2238	599/745	G/V	gGc/gTc		1		1	GRAMD1B	HGNC	HGNC:29214	protein_coding	YES	CCDS66253.1	ENSP00000402457	Q3KR37		UPI000023753E	NM_001286563.1	tolerated(0.53)		16/21		hmmpanther:PTHR23319:SF3,hmmpanther:PTHR23319																	MODERATE	1	SNV	2			1										PASS		rs1280558584	.												T	3	4	90	123613635	123613635	G	T	1	0	0	0	0	1	0	0	0	6627	1203	42	2		2	GRAMD1B	11	123613635	Missense_Mutation	SNP	G	C3N-02089_TP	761879	123613635	11472987	642	29439											
OR10G4	0	.	GRCh38	chr11	124016411	124016411	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttctacactgtgctgacGccccttctcaaccctgttgt	6	15	6	14	1	2	1	1	1	2	0	3	1	2	1	3	0	3	2	3	0	2	5	rs150326783		C3N-02089_TP	C3N-02089_NB	G	G																c.837G>T	p.=	p.T279T	ENST00000320891	1/1	166	130	36	148	148	0	strelka-varscan-mutect	OR10G4,synonymous_variant,p.=,ENST00000320891,NM_001004462.1;	T	ENST00000320891	Transcript	synonymous_variant	837/936	837/936	279/311	T	acG/acT	rs150326783,COSM273042	1		1	OR10G4	HGNC	HGNC:14809	protein_coding	YES	CCDS31702.1	ENSP00000325076	Q8NGN3	A0A126GWS5	UPI0000041BAD	NM_001004462.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF6,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix											0,1						LOW	1	SNV			0,1	1										PASS		rs150326783	.												T	2	4	90	124016411	124016411	G	T	1	0	0	0	0	0	0	0	1	10977	1074	38	1		1	OR10G4	11	124016411	Silent	SNP	G	C3N-02089_TP	402776	124016411	11070211	643	29440											
FEZ1	0	.	GRCh38	chr11	125456045	125456045	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctcctccgagaagtcacgGatggcaccctccacctggtc	8	7	10	16	2	1	1	1	0	0	1	5	3	4	2	5	3	1	2	5	3	1	0	rs773586831		C3N-02089_TP	C3N-02089_NB	G	G																c.729C>G	p.Ile243Met	p.I243M	ENST00000278919	6/10	77	59	18	41	41	0	strelka-varscan-mutect	FEZ1,missense_variant,p.Ile243Met,ENST00000278919,NM_005103.4;FEZ1,missense_variant,p.Ile176Met,ENST00000577924,;FEZ1,non_coding_transcript_exon_variant,,ENST00000527350,;FEZ1,upstream_gene_variant,,ENST00000526507,;FEZ1,upstream_gene_variant,,ENST00000532778,;FEZ1,non_coding_transcript_exon_variant,,ENST00000392709,;FEZ1,non_coding_transcript_exon_variant,,ENST00000524427,;FEZ1,non_coding_transcript_exon_variant,,ENST00000533294,;FEZ1,upstream_gene_variant,,ENST00000530096,;FEZ1,downstream_gene_variant,,ENST00000534022,;FEZ1,upstream_gene_variant,,ENST00000528863,;	C	ENST00000278919	Transcript	missense_variant	964/1748	729/1179	243/392	I/M	atC/atG	rs773586831	1		-1	FEZ1	HGNC	HGNC:3659	protein_coding	YES	CCDS31716.1	ENSP00000278919	Q99689		UPI000012A6FE	NM_005103.4	deleterious(0)		6/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12394:SF4,hmmpanther:PTHR12394,Pfam_domain:PF07763																	MODERATE	1	SNV	1			1										PASS		rs773586831	.												C	3	2	90	125456045	125456045	G	C	1	0	0	0	0	1	0	0	0	5686	1164	41	4		4	FEZ1	11	125456045	Missense_Mutation	SNP	G	C3N-02089_TP	1439634	125456045	9630577	644	29441											
EI24	0	.	GRCh38	chr11	125578234	125578234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtttgtgcttagcaaaGtggtgaatgccatttggttt	7	17	11	6	0	0	1	0	1	0	0	0	1	0	1	2	2	3	4	2	2	3	5	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.418G>C	p.Val140Leu	p.V140L	ENST00000278903	6/11	224	195	29	203	203	0	strelka-varscan-mutect	EI24,missense_variant,p.Val140Leu,ENST00000278903,NM_004879.4;EI24,missense_variant,p.Val140Leu,ENST00000620753,;EI24,missense_variant,p.Val140Leu,ENST00000527235,;EI24,missense_variant,p.Val126Leu,ENST00000534546,NM_001290135.1;EI24,missense_variant,p.Val183Leu,ENST00000524723,;EI24,missense_variant,p.Val140Leu,ENST00000527842,;EI24,5_prime_UTR_variant,,ENST00000618552,;EI24,5_prime_UTR_variant,,ENST00000615917,;EI24,downstream_gene_variant,,ENST00000527131,;EI24,downstream_gene_variant,,ENST00000527520,;RNU6-1156P,downstream_gene_variant,,ENST00000410365,;STT3A-AS1,intron_variant,,ENST00000530526,;EI24,3_prime_UTR_variant,,ENST00000531636,;EI24,downstream_gene_variant,,ENST00000529765,;EI24,upstream_gene_variant,,ENST00000530540,;	C	ENST00000278903	Transcript	missense_variant	846/2455	418/1023	140/340	V/L	Gtg/Ctg		1		1	EI24	HGNC	HGNC:13276	protein_coding	YES	CCDS73410.1	ENSP00000278903	O14681	A0A024R3I8	UPI000006CFDB	NM_004879.4	tolerated(0.11)		6/11		hmmpanther:PTHR21389:SF0,hmmpanther:PTHR21389,Pfam_domain:PF07264																	MODERATE	1	SNV	1			1										PASS		rs1289704430	.												C	3	2	90	125578234	125578234	G	C	1	0	0	0	0	1	0	0	0	4821	1029	36	4		4	EI24	11	125578234	Missense_Mutation	SNP	G	C3N-02089_TP	122189	125578234	9508388	645	29442											
NCAPD3	0	.	GRCh38	chr11	134192730	134192730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaggagagtaagaagcgcCcaggcgaggacctggctgtc	10	5	17	9	2	0	3	0	1	0	2	1	6	0	4	2	4	1	2	2	4	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2004G>T	p.Trp668Cys	p.W668C	ENST00000534548	16/35	279	218	61	190	189	1	strelka-varscan-mutect	NCAPD3,missense_variant,p.Trp668Cys,ENST00000534548,NM_015261.2;NCAPD3,missense_variant,p.Trp668Cys,ENST00000534532,;NCAPD3,missense_variant,p.Trp668Cys,ENST00000525964,;	A	ENST00000534548	Transcript	missense_variant	2069/5061	2004/4497	668/1498	W/C	tgG/tgT		1		-1	NCAPD3	HGNC	HGNC:28952	protein_coding	YES	CCDS31723.1	ENSP00000433681	P42695		UPI00001C1EFE	NM_015261.2	deleterious(0)		16/35		hmmpanther:PTHR14222:SF1,hmmpanther:PTHR14222,Gene3D:1.25.10.10,PIRSF_domain:PIRSF036508,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	134192730	134192730	C	A	1	0	0	0	0	1	0	0	0	10222	624	22	2		2	NCAPD3	11	134192730	Missense_Mutation	SNP	C	C3N-02089_TP	8614496	134192730	893892	646	29443											
CACNA2D4	0	.	GRCh38	chr12	1846616	1846616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcggagaccttctcggagcCcacgaacaagctgcttctca	9	8	10	14	3	2	1	1	0	2	1	5	4	2	2	2	2	4	2	2	2	2	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2320G>T	p.Gly774Cys	p.G774C	ENST00000382722	24/38	202	147	55	134	134	0	strelka-varscan-mutect	CACNA2D4,missense_variant,p.Gly774Cys,ENST00000382722,NM_172364.4;CACNA2D4,missense_variant,p.Gly749Cys,ENST00000587995,;CACNA2D4,missense_variant,p.Gly774Cys,ENST00000586184,;CACNA2D4,missense_variant,p.Gly710Cys,ENST00000588077,;CACNA2D4,missense_variant,p.Gly710Cys,ENST00000585708,;CACNA2D4,missense_variant,p.Gly635Cys,ENST00000585732,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000539048,;CACNA2D4,missense_variant,p.Gly55Cys,ENST00000537784,;CACNA2D4,3_prime_UTR_variant,,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;	A	ENST00000382722	Transcript	missense_variant	2683/5475	2320/3414	774/1137	G/C	Ggc/Tgc		1		-1	CACNA2D4	HGNC	HGNC:20202	protein_coding	YES	CCDS44785.1	ENSP00000372169	Q7Z3S7		UPI0000E593D9	NM_172364.4	deleterious(0.01)		24/38		hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF26,Pfam_domain:PF08473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	1846616	1846616	C	A	1	0	0	0	0	1	0	0	0	2239	623	22	2		2	CACNA2D4	12	1846616	Missense_Mutation	SNP	C	C3N-02089_TP		1846616	131428693	647	29444											
CACNA1C	0	.	GRCh38	chr12	2679764	2679764	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcccctgccatccgggtGcaggaggtggcgtggaagct	5	9	16	11	2	0	0	0	0	0	0	2	2	2	2	4	5	3	2	4	5	1	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.5556G>T	p.=	p.V1852V	ENST00000347598	44/49	120	104	16	85	85	0	strelka-varscan-mutect	CACNA1C,synonymous_variant,p.=,ENST00000399655,NM_000719.6;CACNA1C,synonymous_variant,p.=,ENST00000399634,NM_001167625.1;CACNA1C,synonymous_variant,p.=,ENST00000406454,;CACNA1C,synonymous_variant,p.=,ENST00000399617,NM_001167624.2;CACNA1C,synonymous_variant,p.=,ENST00000399603,NM_001167623.1;CACNA1C,synonymous_variant,p.=,ENST00000335762,;CACNA1C,synonymous_variant,p.=,ENST00000347598,NM_001129827.1,NM_199460.3;CACNA1C,synonymous_variant,p.=,ENST00000344100,NM_001129829.1;CACNA1C,synonymous_variant,p.=,ENST00000327702,NM_001129830.2;CACNA1C,synonymous_variant,p.=,ENST00000399638,NM_001129831.1;CACNA1C,synonymous_variant,p.=,ENST00000399606,NM_001129832.1;CACNA1C,synonymous_variant,p.=,ENST00000399621,NM_001129834.1;CACNA1C,synonymous_variant,p.=,ENST00000399637,NM_001129835.1;CACNA1C,synonymous_variant,p.=,ENST00000402845,NM_001129833.1;CACNA1C,synonymous_variant,p.=,ENST00000399629,NM_001129836.1;CACNA1C,synonymous_variant,p.=,ENST00000399591,NM_001129846.1,NM_001129838.1;CACNA1C,synonymous_variant,p.=,ENST00000399595,NM_001129837.1;CACNA1C,synonymous_variant,p.=,ENST00000399649,NM_001129839.1;CACNA1C,synonymous_variant,p.=,ENST00000399597,NM_001129842.1,NM_001129844.1;CACNA1C,synonymous_variant,p.=,ENST00000399601,NM_001129843.1;CACNA1C,synonymous_variant,p.=,ENST00000399641,NM_001129840.1;CACNA1C,synonymous_variant,p.=,ENST00000399644,NM_001129841.1;CACNA1C,synonymous_variant,p.=,ENST00000616390,;CACNA1C-AS1,intron_variant,,ENST00000501371,;CACNA1C,downstream_gene_variant,,ENST00000465934,;	T	ENST00000347598	Transcript	synonymous_variant	5556/6655	5556/6561	1852/2186	V	gtG/gtT		1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_001129827.1,NM_199460.3			44/49		Pfam_domain:PF16885,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	2679764	2679764	G	T	1	0	0	0	0	0	0	0	1	2228	1306	46	2		2	CACNA1C	12	2679764	Silent	SNP	G	C3N-02089_TP	833148	2679764	130595545	648	29445											
PARP11	0	.	GRCh38	chr12	3828941	3828941	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttgtagctgaatttggaAgtagtaaaagaaatggagcc	15	11	11	4	0	1	2	0	1	1	1	1	4	1	4	1	2	2	4	1	2	7	5	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.237T>A	p.=	p.T79T	ENST00000228820	3/8	227	196	31	193	193	0	strelka-varscan-mutect	PARP11,synonymous_variant,p.=,ENST00000228820,NM_020367.5;PARP11,intron_variant,,ENST00000427057,NM_001286522.1;PARP11,intron_variant,,ENST00000447133,NM_001286521.1;PARP11,downstream_gene_variant,,ENST00000450737,;PARP11,synonymous_variant,p.=,ENST00000416739,;PARP11,synonymous_variant,p.=,ENST00000453942,;PARP11,intron_variant,,ENST00000458162,;	T	ENST00000228820	Transcript	synonymous_variant	382/4424	237/1017	79/338	T	acT/acA		1		-1	PARP11	HGNC	HGNC:1186	protein_coding	YES	CCDS8523.2	ENSP00000228820	Q9NR21		UPI0000374D35	NM_020367.5			3/8		PROSITE_profiles:PS50918,hmmpanther:PTHR14453:SF10,hmmpanther:PTHR14453,Pfam_domain:PF02825,Superfamily_domains:SSF117839																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	3828941	3828941	A	T	1	0	0	0	0	0	0	0	1	11536	59	3	4		4	PARP11	12	3828941	Silent	SNP	A	C3N-02089_TP	1149177	3828941	129446368	649	29446											
LPAR5	0	.	GRCh38	chr12	6620531	6620531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcaggaagatgacgaGgttagccagcaggaggcgca	13	3	16	9	2	0	2	0	1	0	1	0	5	0	4	1	4	3	5	1	4	2	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.718C>T	p.Leu240Phe	p.L240F	ENST00000329858	2/2	241	153	88	136	136	0	strelka-varscan-mutect	LPAR5,missense_variant,p.Leu240Phe,ENST00000329858,NM_020400.5;LPAR5,missense_variant,p.Leu240Phe,ENST00000431922,NM_001142961.1;LPAR5,non_coding_transcript_exon_variant,,ENST00000540335,;	A	ENST00000329858	Transcript	missense_variant	1475/3171	718/1119	240/372	L/F	Ctc/Ttc		1		-1	LPAR5	HGNC	HGNC:13307	protein_coding	YES	CCDS8553.1	ENSP00000327875	Q9H1C0	Q5KU18	UPI0000036A45	NM_020400.5	deleterious(0.03)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24234,hmmpanther:PTHR24234:SF6,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	6620531	6620531	G	A	1	0	0	0	0	1	0	0	0	8811	1000	35	3		3	LPAR5	12	6620531	Missense_Mutation	SNP	G	C3N-02089_TP	2791590	6620531	126654778	650	29447											
GPR162	0	.	GRCh38	chr12	6824726	6824726	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaacttggtcagcgccatCgtctttctctatgactcact	8	13	6	14	2	4	1	2	1	2	0	6	1	4	1	2	1	2	0	2	1	2	3	rs781809274		C3N-02089_TP	C3N-02089_NB	C	C																c.828C>T	p.=	p.I276I	ENST00000311268	2/5	445	384	61	280	280	0	strelka-varscan-mutect	GPR162,synonymous_variant,p.=,ENST00000311268,NM_019858.1;GPR162,intron_variant,,ENST00000428545,NM_014449.1;GPR162,intron_variant,,ENST00000382315,;GPR162,intron_variant,,ENST00000545321,;CD4,downstream_gene_variant,,ENST00000011653,NM_000616.4;P3H3,upstream_gene_variant,,ENST00000290510,NM_014262.4;GPR162,downstream_gene_variant,,ENST00000541431,;GPR162,upstream_gene_variant,,ENST00000542330,;P3H3,upstream_gene_variant,,ENST00000544813,;GPR162,non_coding_transcript_exon_variant,,ENST00000535220,;P3H3,upstream_gene_variant,,ENST00000536140,;CD4,downstream_gene_variant,,ENST00000437800,;	T	ENST00000311268	Transcript	synonymous_variant	1615/2768	828/1767	276/588	I	atC/atT	rs781809274	1		1	GPR162	HGNC	HGNC:16693	protein_coding	YES	CCDS8563.1	ENSP00000311528	Q16538	A0A0I9QPQ8	UPI000005046E	NM_019858.1			2/5		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR16518:SF6,hmmpanther:PTHR16518,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01991																	LOW	1	SNV	1			1										PASS		rs781809274	.												T	2	4	90	6824726	6824726	C	T	1	0	0	0	0	0	0	0	1	6552	874	31	1		1	GPR162	12	6824726	Silent	SNP	C	C3N-02089_TP	204195	6824726	126450583	651	29448											
GPR162	0	.	GRCh38	chr12	6825613	6825613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgagcgctaccgcgccGacgtgcgcacagtgtgggag	6	5	16	14	7	0	0	0	0	0	0	0	3	0	1	3	1	4	2	3	1	1	1	rs376678235		C3N-02089_TP	C3N-02089_NB	G	G																c.997G>T	p.Asp333Tyr	p.D333Y	ENST00000311268	3/5	336	176	160	173	173	0	strelka-varscan-mutect	GPR162,missense_variant,p.Asp333Tyr,ENST00000311268,NM_019858.1;GPR162,missense_variant,p.Asp49Tyr,ENST00000428545,NM_014449.1;GPR162,missense_variant,p.Asp29Tyr,ENST00000382315,;GPR162,missense_variant,p.Asp118Tyr,ENST00000545321,;CD4,downstream_gene_variant,,ENST00000011653,NM_000616.4;P3H3,upstream_gene_variant,,ENST00000290510,NM_014262.4;GPR162,downstream_gene_variant,,ENST00000541431,;P3H3,upstream_gene_variant,,ENST00000538102,;GPR162,upstream_gene_variant,,ENST00000542330,;P3H3,upstream_gene_variant,,ENST00000544813,;P3H3,upstream_gene_variant,,ENST00000536140,;P3H3,upstream_gene_variant,,ENST00000612048,;GPR162,downstream_gene_variant,,ENST00000535220,;	T	ENST00000311268	Transcript	missense_variant	1784/2768	997/1767	333/588	D/Y	Gac/Tac	rs376678235	1		1	GPR162	HGNC	HGNC:16693	protein_coding	YES	CCDS8563.1	ENSP00000311528	Q16538	A0A0I9QPQ8	UPI000005046E	NM_019858.1	deleterious(0)		3/5		hmmpanther:PTHR16518:SF6,hmmpanther:PTHR16518,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		rs376678235	.												T	3	4	90	6825613	6825613	G	T	1	0	0	0	0	1	0	0	0	6552	1058	37	1		1	GPR162	12	6825613	Missense_Mutation	SNP	G	C3N-02089_TP	887	6825613	126449696	652	29449											
C1RL	0	.	GRCh38	chr12	7096546	7096546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataccacatagacgctgcCactgtccccctggcagacac	10	6	7	18	1	0	2	0	0	0	2	1	2	1	2	5	1	2	2	5	1	2	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1309G>T	p.Gly437Cys	p.G437C	ENST00000266542	6/6	402	226	176	269	269	0	strelka-varscan-mutect	C1RL,missense_variant,p.Gly437Cys,ENST00000266542,NM_001297640.1,NM_016546.3;C1RL,3_prime_UTR_variant,,ENST00000544702,NM_001297642.1;C1RL,intron_variant,,ENST00000545280,;C1R,upstream_gene_variant,,ENST00000542285,NM_001733.4;C1R,upstream_gene_variant,,ENST00000536053,;C1R,upstream_gene_variant,,ENST00000535233,;C1RL,downstream_gene_variant,,ENST00000543933,;C1R,upstream_gene_variant,,ENST00000541042,;C1RL,downstream_gene_variant,,ENST00000534950,;C1R,upstream_gene_variant,,ENST00000540242,;C1R,upstream_gene_variant,,ENST00000538050,;C1R,upstream_gene_variant,,ENST00000543835,;C1R,upstream_gene_variant,,ENST00000540610,;C1RL,intron_variant,,ENST00000504702,;C1RL,intron_variant,,ENST00000539803,;C1R,upstream_gene_variant,,ENST00000540394,;C1R,upstream_gene_variant,,ENST00000543362,;C1R,upstream_gene_variant,,ENST00000536092,;C1R,upstream_gene_variant,,ENST00000545466,;C1RL,downstream_gene_variant,,ENST00000537833,;C1RL,downstream_gene_variant,,ENST00000534969,;	A	ENST00000266542	Transcript	missense_variant	1402/3394	1309/1464	437/487	G/C	Ggc/Tgc		1		-1	C1RL	HGNC	HGNC:21265	protein_coding	YES	CCDS8573.1	ENSP00000266542	Q9NZP8		UPI0000EE67FA	NM_001297640.1,NM_016546.3	deleterious(0)		6/6		Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_patterns:PS00135,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF274,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	7096546	7096546	C	A	1	0	0	0	0	1	0	0	0	1951	594	21	2		2	C1RL	12	7096546	Missense_Mutation	SNP	C	C3N-02089_TP	270933	7096546	126178763	653	29450											
CD163	0	.	GRCh38	chr12	7481197	7481197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccagatcatctgcattcaGgcaagaattcatctcccggt	10	11	8	12	1	5	2	3	0	2	2	7	2	6	2	2	2	1	2	2	2	2	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.3307C>T	p.=	p.L1103L	ENST00000359156	15/17	199	165	34	183	183	0	strelka-varscan-mutect	CD163,synonymous_variant,p.=,ENST00000359156,NM_004244.5;CD163,synonymous_variant,p.=,ENST00000396620,;CD163,synonymous_variant,p.=,ENST00000432237,NM_203416.3;CD163,synonymous_variant,p.=,ENST00000541972,;CD163,intron_variant,,ENST00000537626,;CD163,intron_variant,,ENST00000542280,;CD163L1,upstream_gene_variant,,ENST00000543276,;CD163,downstream_gene_variant,,ENST00000539632,;CD163,non_coding_transcript_exon_variant,,ENST00000537044,;CD163,downstream_gene_variant,,ENST00000538840,;	A	ENST00000359156	Transcript	synonymous_variant	3510/4268	3307/3471	1103/1156	L	Ctg/Ttg		1		-1	CD163	HGNC	HGNC:1631	protein_coding	YES	CCDS8578.1	ENSP00000352071	Q86VB7		UPI00004565CC	NM_004244.5			15/17																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	7481197	7481197	G	A	1	0	0	0	0	0	0	0	1	2670	991	35	3		3	CD163	12	7481197	Silent	SNP	G	C3N-02089_TP	384651	7481197	125794112	654	29451											
GDF3	0	.	GRCh38	chr12	7695498	7695498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtacattcccgcggacGcccagctcctttacgtagca	9	8	9	15	5	0	0	0	0	0	0	2	2	2	1	3	1	4	4	3	1	4	5			C3N-02089_TP	C3N-02089_NB	G	G																c.231C>T	p.=	p.G77G	ENST00000329913	1/2	352	330	22	267	267	0	strelka-varscan-mutect	GDF3,synonymous_variant,p.=,ENST00000329913,NM_020634.1;	A	ENST00000329913	Transcript	synonymous_variant	279/1239	231/1095	77/364	G	ggC/ggT	COSM4044965	1		-1	GDF3	HGNC	HGNC:4218	protein_coding	YES	CCDS8581.1	ENSP00000331745	Q9NR23		UPI0000049E0E	NM_020634.1			1/2		hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF38											1						LOW	1	SNV	1		1	1										PASS		rs1448664549	.												A	2	1	90	7695498	7695498	G	A	1	0	0	0	0	0	0	0	1	6187	1074	38	1		1	GDF3	12	7695498	Silent	SNP	G	C3N-02089_TP	214301	7695498	125579811	655	29452											
CLEC2D	0	.	GRCh38	chr12	9694779	9694779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcctatcctgggagcaGgagagtgtgcctatttgaat	8	13	13	7	0	0	2	0	1	0	1	2	4	2	3	3	3	2	2	3	3	3	4	rs376555412		C3N-02089_TP	C3N-02089_NB	G	G																c.563G>T	p.Arg188Met	p.R188M	ENST00000261340	6/6	233	182	51	187	187	0	strelka-varscan-mutect	CLEC2D,stop_gained,p.Gly161Ter,ENST00000290855,NM_013269.5;CLEC2D,stop_gained,p.Gly124Ter,ENST00000261339,NM_001197317.2;CLEC2D,missense_variant,p.Arg188Met,ENST00000261340,NM_001004419.4;CLEC2D,missense_variant,p.Arg167Met,ENST00000430909,;CLEC2D,missense_variant,p.Arg126Met,ENST00000543300,NM_001197318.2;CLEC2D,missense_variant,p.Arg100Met,ENST00000544322,;CLEC2D,missense_variant,p.Arg89Met,ENST00000545918,NM_001197319.2;CLEC2D,3_prime_UTR_variant,,ENST00000460309,;CLEC2D,downstream_gene_variant,,ENST00000466035,;CLEC2D,3_prime_UTR_variant,,ENST00000479877,;CLEC2D,3_prime_UTR_variant,,ENST00000325960,;CLEC2D,3_prime_UTR_variant,,ENST00000444971,;CLEC2D,downstream_gene_variant,,ENST00000476198,;CLEC2D,downstream_gene_variant,,ENST00000536355,;CLEC2D,downstream_gene_variant,,ENST00000492359,;RP11-75L1.2,upstream_gene_variant,,ENST00000396690,;	T	ENST00000261340	Transcript	missense_variant	585/935	563/585	188/194	R/M	aGg/aTg	rs376555412	1		1	CLEC2D	HGNC	HGNC:14351	protein_coding	YES	CCDS31741.1	ENSP00000261340	Q9UHP7		UPI000003779D	NM_001004419.4	deleterious_low_confidence(0.01)		6/6		SMART_domains:SM00034																	MODERATE	1	SNV	1			1										PASS		rs376555412	.												T	3	4	90	9694779	9694779	G	T	1	0	0	0	0	1	0	0	0	3276	1001	35	2		2	CLEC2D	12	9694779	Missense_Mutation	SNP	G	C3N-02089_TP	1999281	9694779	123580530	656	29453											
CDKN1B	0	.	GRCh38	chr12	12718248	12718248	+	Frame_Shift_Del	DEL	C	C	-																															tggtggacccaaagactgatCcgtcggacagccagacgggg																								rs752620765		C3N-02089_TP	C3N-02089_NB	C	C																c.410delC	p.Pro137ArgfsTer8	p.P137Rfs*8	ENST00000228872	1/3	158	144	14	150	150	0	sindel-varindel-pindel	CDKN1B,frameshift_variant,p.Pro137ArgfsTer8,ENST00000228872,NM_004064.4;CDKN1B,frameshift_variant,p.Pro137ArgfsTer8,ENST00000396340,;CDKN1B,intron_variant,,ENST00000442489,;RP11-180M15.7,upstream_gene_variant,,ENST00000614874,;CDKN1B,intron_variant,,ENST00000477087,;	-	ENST00000228872	Transcript	frameshift_variant	1125/2657	409/597	137/198	P/X	Ccg/cg	rs752620765,COSM268297	1		1	CDKN1B	HGNC	HGNC:1785	protein_coding	YES	CCDS8653.1	ENSP00000228872	P46527	Q6I9V6	UPI0000035C92	NM_004064.4			1/3		hmmpanther:PTHR10265,hmmpanther:PTHR10265:SF9											0,1						HIGH	1	deletion	1	1	0,1	1										PASS		.	.												-	7	5	90	12718248	12718248	C	-	1	0	1	0	1	0	0	0	0	2863	855	30	0		0	CDKN1B	12	12718248	Frame_Shift_Del	DEL	C	C3N-02089_TP	3023469	12718248	120557061	657	29454											
PIK3C2G	0	.	GRCh38	chr12	18290906	18290906	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatttcaattctgggaagatCtggagcactactacagcatt	13	12	8	8	0	3	1	1	0	2	1	3	3	3	3	0	2	4	2	0	2	5	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.813C>G	p.Ile271Met	p.I271M	ENST00000538779	4/33	249	231	18	219	219	0	strelka-varscan-mutect	PIK3C2G,missense_variant,p.Ile271Met,ENST00000538779,NM_001288772.1,NM_001288774.1;PIK3C2G,missense_variant,p.Ile271Met,ENST00000433979,NM_004570.5;PIK3C2G,missense_variant,p.Ile271Met,ENST00000266497,;PIK3C2G,missense_variant,p.Ile271Met,ENST00000535651,;PIK3C2G,missense_variant,p.Ile63Met,ENST00000536967,;RERGL,intron_variant,,ENST00000541632,;PIK3C2G,3_prime_UTR_variant,,ENST00000546003,;	G	ENST00000538779	Transcript	missense_variant	929/4963	813/4461	271/1486	I/M	atC/atG		1		1	PIK3C2G	HGNC	HGNC:8973	protein_coding	YES	CCDS73452.1	ENSP00000445381		F5H369	UPI00020655D2	NM_001288772.1,NM_001288774.1	deleterious(0)		4/33		hmmpanther:PTHR10048:SF29,hmmpanther:PTHR10048,Gene3D:3.10.20.90,Superfamily_domains:SSF54236																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	90	18290906	18290906	C	G	1	0	0	0	0	1	0	0	0	12006	903	32	4		4	PIK3C2G	12	18290906	Missense_Mutation	SNP	C	C3N-02089_TP	5572658	18290906	114984403	658	29455											
PIK3C2G	0	.	GRCh38	chr12	18538221	18538221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagagggtgggaaaaaccCacagcattttcaagattttg	14	10	10	7	0	1	2	1	0	0	2	1	3	1	3	1	2	3	1	1	2	4	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.3389C>A	p.Pro1130Gln	p.P1130Q	ENST00000538779	25/33	277	228	49	236	236	0	strelka-varscan-mutect	PIK3C2G,missense_variant,p.Pro1130Gln,ENST00000538779,NM_001288772.1,NM_001288774.1;PIK3C2G,missense_variant,p.Pro1089Gln,ENST00000433979,NM_004570.5;PIK3C2G,missense_variant,p.Pro1089Gln,ENST00000266497,;PIK3C2G,3_prime_UTR_variant,,ENST00000546003,;	A	ENST00000538779	Transcript	missense_variant	3505/4963	3389/4461	1130/1486	P/Q	cCa/cAa		1		1	PIK3C2G	HGNC	HGNC:8973	protein_coding	YES	CCDS73452.1	ENSP00000445381		F5H369	UPI00020655D2	NM_001288772.1,NM_001288774.1	tolerated(0.09)		25/33		PROSITE_profiles:PS50290,hmmpanther:PTHR10048:SF29,hmmpanther:PTHR10048,Pfam_domain:PF00454,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		rs1405941337	.												A	3	1	90	18538221	18538221	C	A	1	0	0	0	0	1	0	0	0	12006	594	21	2		2	PIK3C2G	12	18538221	Missense_Mutation	SNP	C	C3N-02089_TP	247315	18538221	114737088	659	29456											
ABCC9	0	.	GRCh38	chr12	21894084	21894084	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtggagagcaggaacagtgGtgtgaccaggatatggaaga	13	6	17	5	1	0	3	0	1	0	2	0	7	0	6	1	5	2	1	1	5	3	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1750C>G	p.Pro584Ala	p.P584A	ENST00000261200	12/38	347	312	35	266	266	0	strelka-varscan-mutect	ABCC9,missense_variant,p.Pro584Ala,ENST00000261200,NM_020297.3;ABCC9,missense_variant,p.Pro584Ala,ENST00000261201,NM_005691.3;ABCC9,missense_variant,p.Pro247Ala,ENST00000544039,;	C	ENST00000261200	Transcript	missense_variant	1750/8293	1750/4650	584/1549	P/A	Cca/Gca		1		-1	ABCC9	HGNC	HGNC:60	protein_coding	YES	CCDS8693.1	ENSP00000261200	O60706		UPI000013D13F	NM_020297.3	deleterious(0)		12/38		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	90	21894084	21894084	G	C	1	0	0	0	0	1	0	0	0	63	1261	44	4		4	ABCC9	12	21894084	Missense_Mutation	SNP	G	C3N-02089_TP	3355863	21894084	111381225	660	29457											
OVCH1	0	.	GRCh38	chr12	29476276	29476276	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacagtttggactaaatttGacagcaaagtcctcaaatgt	15	12	7	7	0	1	1	1	1	0	0	2	2	2	2	1	1	2	2	1	1	5	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1401C>G	p.=	p.V467V	ENST00000318184	13/28	210	172	38	193	193	0	strelka-varscan-mutect	OVCH1,synonymous_variant,p.=,ENST00000318184,NM_183378.2;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;	C	ENST00000318184	Transcript	synonymous_variant	1401/3405	1401/3405	467/1134	V	gtC/gtG		1		-1	OVCH1	HGNC	HGNC:23080	protein_coding	YES		ENSP00000326708	Q7RTY7		UPI000040640A	NM_183378.2			13/28		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR24251,hmmpanther:PTHR24251:SF17,SMART_domains:SM00042,Superfamily_domains:SSF49854																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	90	29476276	29476276	G	C	1	0	0	0	0	0	0	0	1	11393	1277	45	4		4	OVCH1	12	29476276	Silent	SNP	G	C3N-02089_TP	7582192	29476276	103799033	661	29458											
TMTC1	0	.	GRCh38	chr12	29572185	29572185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcatagttgtagtgaacCttggcattgtggggcagagt	8	13	15	5	0	0	2	0	1	0	1	0	2	0	2	1	4	1	5	1	4	3	6	rs558596090		C3N-02089_TP	C3N-02089_NB	C	C																c.1452G>T	p.Lys484Asn	p.K484N	ENST00000539277	9/18	258	217	41	230	230	0	strelka-varscan-mutect	TMTC1,missense_variant,p.Lys376Asn,ENST00000256062,NM_175861.3;TMTC1,missense_variant,p.Lys546Asn,ENST00000551659,;TMTC1,missense_variant,p.Lys484Asn,ENST00000539277,NM_001193451.1;TMTC1,missense_variant,p.Lys83Asn,ENST00000550354,;TMTC1,intron_variant,,ENST00000552618,;TMTC1,non_coding_transcript_exon_variant,,ENST00000319685,;TMTC1,non_coding_transcript_exon_variant,,ENST00000546582,;TMTC1,non_coding_transcript_exon_variant,,ENST00000553189,;	A	ENST00000539277	Transcript	missense_variant	1511/2758	1452/2649	484/882	K/N	aaG/aaT	rs558596090	1		-1	TMTC1	HGNC	HGNC:24099	protein_coding	YES	CCDS53772.1	ENSP00000442046	Q8IUR5		UPI0001DD37FA	NM_001193451.1	deleterious(0)		9/18		Gene3D:1.25.40.10,Pfam_domain:PF07719,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF401,SMART_domains:SM00028,SMART_domains:SM00386,Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1										PASS		rs558596090	.												A	3	1	90	29572185	29572185	C	A	1	0	0	0	0	1	0	0	0	16734	680	24	2		2	TMTC1	12	29572185	Missense_Mutation	SNP	C	C3N-02089_TP	95909	29572185	103703124	662	29459											
TSPAN11	0	.	GRCh38	chr12	30978610	30978610	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgagctggtggcgggagTcctggcccatgtgtattacc	5	11	16	9	1	0	1	0	1	0	0	1	2	1	2	3	5	2	3	3	5	2	3	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.326T>A	p.Val109Asp	p.V109D	ENST00000261177	4/8	211	192	19	169	169	0	strelka-varscan-mutect	TSPAN11,missense_variant,p.Val109Asp,ENST00000261177,NM_001080509.2;TSPAN11,missense_variant,p.Val109Asp,ENST00000546076,;TSPAN11,missense_variant,p.Val38Asp,ENST00000535215,;RP11-551L14.4,non_coding_transcript_exon_variant,,ENST00000613860,;RP11-551L14.4,non_coding_transcript_exon_variant,,ENST00000612219,;	A	ENST00000261177	Transcript	missense_variant	385/5505	326/762	109/253	V/D	gTc/gAc		1		1	TSPAN11	HGNC	HGNC:30795	protein_coding	YES	CCDS31765.1	ENSP00000261177	A1L157		UPI00001AE7E4	NM_001080509.2	deleterious(0)		4/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR19282:SF198,hmmpanther:PTHR19282,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	30978610	30978610	T	A	1	0	0	0	0	1	0	0	0	17140	1667	58	4		4	TSPAN11	12	30978610	Missense_Mutation	SNP	T	C3N-02089_TP	1406425	30978610	102296699	663	29460											
SYT10	0	.	GRCh38	chr12	33379902	33379902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcattccagtggtctcgcCcaagaccctcagcatccagt	8	11	7	15	1	3	1	2	0	1	1	6	1	5	1	4	1	1	1	4	1	1	2			C3N-02089_TP	C3N-02089_NB	C	C																c.1430G>T	p.Gly477Val	p.G477V	ENST00000228567	6/7	263	218	45	235	234	1	strelka-varscan-mutect	SYT10,missense_variant,p.Gly477Val,ENST00000228567,NM_198992.3;SYT10,3_prime_UTR_variant,,ENST00000539102,;	A	ENST00000228567	Transcript	missense_variant	1727/4461	1430/1572	477/523	G/V	gGg/gTg	COSM4778925	1		-1	SYT10	HGNC	HGNC:19266	protein_coding	YES	CCDS8732.1	ENSP00000228567	Q6XYQ8		UPI0000052B30	NM_198992.3	deleterious(0)		6/7		Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF46,SMART_domains:SM00239,Superfamily_domains:SSF49562											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	90	33379902	33379902	C	A	1	0	0	0	0	1	0	0	0	15860	623	22	2		2	SYT10	12	33379902	Missense_Mutation	SNP	C	C3N-02089_TP	2401292	33379902	99895407	664	29461											
SYT10	0	.	GRCh38	chr12	33382507	33382507	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcacacatcagggacacTttgacataaggatctaggaa	14	9	8	10	0	3	1	2	1	1	0	3	4	3	4	1	3	0	0	1	3	3	4	rs752312991		C3N-02089_TP	C3N-02089_NB	T	T																c.1212A>T	p.Lys404Asn	p.K404N	ENST00000228567	5/7	72	56	16	83	83	0	strelka-varscan-mutect	SYT10,missense_variant,p.Lys404Asn,ENST00000228567,NM_198992.3;SYT10,3_prime_UTR_variant,,ENST00000539102,;	A	ENST00000228567	Transcript	missense_variant	1509/4461	1212/1572	404/523	K/N	aaA/aaT	rs752312991	1		-1	SYT10	HGNC	HGNC:19266	protein_coding	YES	CCDS8732.1	ENSP00000228567	Q6XYQ8		UPI0000052B30	NM_198992.3	deleterious(0)		5/7		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF46,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	33382507	33382507	T	A	1	0	0	0	0	1	0	0	0	15860	1606	56	4		4	SYT10	12	33382507	Missense_Mutation	SNP	T	C3N-02089_TP	2605	33382507	99892802	665	29462											
CNTN1	0	.	GRCh38	chr12	40944017	40944017	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctacgcgaattatattggcCccaattaatgccgatatcac	12	11	6	12	3	1	0	1	0	0	0	1	2	1	0	4	1	2	0	4	1	7	6	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1530C>A	p.=	p.A510A	ENST00000551295	14/24	139	119	20	158	157	1	strelka-varscan-mutect	CNTN1,synonymous_variant,p.=,ENST00000551295,NM_001843.3;CNTN1,synonymous_variant,p.=,ENST00000347616,;CNTN1,synonymous_variant,p.=,ENST00000348761,NM_175038.2;CNTN1,synonymous_variant,p.=,ENST00000547849,NM_001256064.1;CNTN1,synonymous_variant,p.=,ENST00000547702,NM_001256063.1;	A	ENST00000551295	Transcript	synonymous_variant	1647/5557	1530/3057	510/1018	A	gcC/gcA		1		1	CNTN1	HGNC	HGNC:2171	protein_coding	YES	CCDS8737.1	ENSP00000447006	Q12860	A0A024R104	UPI0000127EBA	NM_001843.3			14/24		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,Gene3D:2.60.40.10,Pfam_domain:PF13927,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	40944017	40944017	C	A	1	0	0	0	0	0	0	0	1	3421	610	22	2		2	CNTN1	12	40944017	Silent	SNP	C	C3N-02089_TP	7561510	40944017	92331292	666	29463											
PPHLN1	0	.	GRCh38	chr12	42446290	42446290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacattgcaactcacgcaaGgtattggtcctttttattct	9	16	7	9	1	2	0	1	0	1	0	3	0	3	0	1	2	3	4	1	2	5	8	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1350G>T	p.Lys450Asn	p.K450N	ENST00000395568	12/13	54	43	11	39	39	0	strelka-varscan-mutect	PPHLN1,missense_variant,p.Lys426Asn,ENST00000432191,NM_001143787.1;PPHLN1,missense_variant,p.Lys450Asn,ENST00000395568,NM_016488.6;PPHLN1,missense_variant,p.Lys355Asn,ENST00000256678,;PPHLN1,missense_variant,p.Lys450Asn,ENST00000610488,;PPHLN1,missense_variant,p.Lys426Asn,ENST00000619544,;PPHLN1,intron_variant,,ENST00000317560,;PPHLN1,downstream_gene_variant,,ENST00000613154,;PPHLN1,downstream_gene_variant,,ENST00000549190,;PPHLN1,downstream_gene_variant,,ENST00000395580,NM_201515.1;PPHLN1,downstream_gene_variant,,ENST00000358314,NM_201439.1;PPHLN1,downstream_gene_variant,,ENST00000449194,NM_001143789.1,NM_001143788.1;PPHLN1,downstream_gene_variant,,ENST00000337898,;PPHLN1,downstream_gene_variant,,ENST00000552761,NM_201440.1,NM_201438.1;PPHLN1,non_coding_transcript_exon_variant,,ENST00000624028,;	T	ENST00000395568	Transcript	missense_variant,splice_region_variant	1434/2170	1350/1377	450/458	K/N	aaG/aaT		1		1	PPHLN1	HGNC	HGNC:19369	protein_coding	YES	CCDS31777.1	ENSP00000378935	Q8NEY8		UPI0000351A1E	NM_016488.6	deleterious_low_confidence(0)		12/13																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	42446290	42446290	G	T	1	0	0	0	0	1	0	0	0	12424	1014	35	2		2	PPHLN1	12	42446290	Missense_Mutation	SNP	G	C3N-02089_TP	1502273	42446290	90829019	667	29464											
DBX2	0	.	GRCh38	chr12	45050574	45050574	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcccccggagcccggccCggcagcctcgcactgtccgc	3	4	13	21	6	0	0	0	0	0	0	3	1	2	1	6	4	2	2	6	4	0	0	rs773452523		C3N-02089_TP	C3N-02089_NB	C	C																c.354G>T	p.=	p.P118P	ENST00000332700	1/4	367	289	78	267	267	0	strelka-varscan-mutect	DBX2,synonymous_variant,p.=,ENST00000332700,NM_001004329.2;RP11-478B9.1,upstream_gene_variant,,ENST00000548424,;	A	ENST00000332700	Transcript	synonymous_variant	526/2806	354/1020	118/339	P	ccG/ccT	rs773452523	1		-1	DBX2	HGNC	HGNC:33186	protein_coding	YES	CCDS31781.1	ENSP00000331470	Q6ZNG2		UPI000041A784	NM_001004329.2			1/4		hmmpanther:PTHR24331,hmmpanther:PTHR24331:SF4																	LOW	1	SNV	2			1										PASS		rs773452523	.												A	2	1	90	45050574	45050574	C	A	1	0	0	0	0	0	0	0	1	4060	639	23	1		1	DBX2	12	45050574	Silent	SNP	C	C3N-02089_TP	2604284	45050574	88224735	668	29465											
PCED1B	0	.	GRCh38	chr12	47235212	47235213	+	Frame_Shift_Ins	INS	-	-	A																															actcccgggcagcttagagcINSaaggggggagctgaacttcg																								novel		C3N-02089_TP	C3N-02089_NB	-	-																c.151dupA	p.Arg51LysfsTer10	p.R51Kfs*10	ENST00000546455	4/4	76	51	25	46	46	0	sindel-varindel-pindel	PCED1B,frameshift_variant,p.Arg51LysfsTer10,ENST00000546455,NM_138371.2;PCED1B,frameshift_variant,p.Arg51LysfsTer10,ENST00000432328,NM_001281429.1;PCED1B,frameshift_variant,p.Arg51LysfsTer10,ENST00000549500,;PCED1B,frameshift_variant,p.Arg51LysfsTer10,ENST00000549630,;PCED1B,frameshift_variant,p.Arg51LysfsTer?,ENST00000551777,;PCED1B,intron_variant,,ENST00000548348,;RP11-493L12.3,downstream_gene_variant,,ENST00000547748,;	A	ENST00000546455	Transcript	frameshift_variant	880-881/2328	149-150/1299	50/432	A/AX	gca/gcAa		1		1	PCED1B	HGNC	HGNC:28255	protein_coding	YES	CCDS8752.1	ENSP00000446688	Q96HM7	A0A024R115	UPI000006E8D2	NM_138371.2			4/4		hmmpanther:PTHR14469,hmmpanther:PTHR14469:SF1																	HIGH	1	insertion	1	2		1										PASS		.	.												A	7	5	90	47235212	47235212	-	A	1	0	1	1	0	0	0	0	0	11660	710	25	0		0	PCED1B	12	47235212	Frame_Shift_Ins	INS	-	C3N-02089_TP	2184638	47235212	86040097	669	29466											
ADCY6	0	.	GRCh38	chr12	48776279	48776279	+	Missense_Mutation	SNP	C	C	A																															tgaggtacgcgttgcgctcgCcaccacggcctggctccacc																								novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1607G>T	p.Gly536Val	p.G536V	ENST00000307885	7/21	359	295	64	324	324	0	strelka-varscan-mutect	ADCY6,missense_variant,p.Gly536Val,ENST00000307885,NM_015270.3;ADCY6,missense_variant,p.Gly536Val,ENST00000550422,NM_020983.2;ADCY6,missense_variant,p.Gly536Val,ENST00000357869,;ADCY6,downstream_gene_variant,,ENST00000548820,;MIR4701,upstream_gene_variant,,ENST00000583094,;ADCY6,non_coding_transcript_exon_variant,,ENST00000552090,;ADCY6,upstream_gene_variant,,ENST00000548351,;ADCY6,upstream_gene_variant,,ENST00000547260,;ADCY6,upstream_gene_variant,,ENST00000552099,;ADCY6,downstream_gene_variant,,ENST00000551435,;	A	ENST00000307885	Transcript	missense_variant	2302/6464	1607/3507	536/1168	G/V	gGc/gTc		1		-1	ADCY6	HGNC	HGNC:237	protein_coding	YES	CCDS8767.1	ENSP00000311405	O43306		UPI000003EC29	NM_015270.3	deleterious(0)		7/21		hmmpanther:PTHR11920:SF343,hmmpanther:PTHR11920,Gene3D:3.30.70.1230,PIRSF_domain:PIRSF039050,Superfamily_domains:SSF55073																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	48776279	48776279	C	A	1	0	0	0	0	1	0	0	0	342	739	26	2		2	ADCY6	12	48776279	Missense_Mutation	SNP	C	C3N-02089_TP	1541067	48776279	84499030	670	29467	612	2									
ADCY6	0	.	GRCh38	chr12	48776281	48776281	+	Silent	SNP	A	A	C																															aggtacgcgttgcgctcgccAccacggcctggctccacctc																								novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1605T>G	p.=	p.G535G	ENST00000307885	7/21	361	298	63	321	321	0	strelka-varscan-mutect	ADCY6,synonymous_variant,p.=,ENST00000307885,NM_015270.3;ADCY6,synonymous_variant,p.=,ENST00000550422,NM_020983.2;ADCY6,synonymous_variant,p.=,ENST00000357869,;ADCY6,downstream_gene_variant,,ENST00000548820,;MIR4701,upstream_gene_variant,,ENST00000583094,;ADCY6,non_coding_transcript_exon_variant,,ENST00000552090,;ADCY6,upstream_gene_variant,,ENST00000548351,;ADCY6,upstream_gene_variant,,ENST00000547260,;ADCY6,upstream_gene_variant,,ENST00000552099,;ADCY6,downstream_gene_variant,,ENST00000551435,;	C	ENST00000307885	Transcript	synonymous_variant	2300/6464	1605/3507	535/1168	G	ggT/ggG		1		-1	ADCY6	HGNC	HGNC:237	protein_coding	YES	CCDS8767.1	ENSP00000311405	O43306		UPI000003EC29	NM_015270.3			7/21		hmmpanther:PTHR11920:SF343,hmmpanther:PTHR11920,Gene3D:3.30.70.1230,PIRSF_domain:PIRSF039050,Superfamily_domains:SSF55073																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	48776281	48776281	A	C	1	0	0	0	0	0	0	0	1	342	146	6	5		5	ADCY6	12	48776281	Silent	SNP	A	C3N-02089_TP	2	48776281	84499028	671	29468	612	2									
FAM186B	0	.	GRCh38	chr12	49600159	49600159	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacatctcctcctcctccAgccacagctgcctccgcatc	6	8	5	22	1	1	0	0	0	1	0	7	0	5	0	8	0	3	2	8	0	0	0	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1481T>A	p.Leu494Gln	p.L494Q	ENST00000257894	4/7	101	81	20	90	90	0	strelka-varscan-mutect	FAM186B,missense_variant,p.Leu494Gln,ENST00000257894,NM_032130.2;FAM186B,missense_variant,p.Leu107Gln,ENST00000532262,;FAM186B,intron_variant,,ENST00000551047,;PRPF40B,intron_variant,,ENST00000551063,;FAM186B,upstream_gene_variant,,ENST00000548841,;PRPF40B,non_coding_transcript_exon_variant,,ENST00000508736,;PRPF40B,intron_variant,,ENST00000527253,;PRPF40B,downstream_gene_variant,,ENST00000547764,;FAM186B,3_prime_UTR_variant,,ENST00000533372,;RP11-133N21.7,downstream_gene_variant,,ENST00000547655,;	T	ENST00000257894	Transcript	missense_variant	1643/2944	1481/2682	494/893	L/Q	cTg/cAg		1		-1	FAM186B	HGNC	HGNC:25296	protein_coding	YES	CCDS8788.1	ENSP00000257894	Q8IYM0	A0A024R129	UPI000007077C	NM_032130.2	tolerated(0.13)		4/7		hmmpanther:PTHR33590,hmmpanther:PTHR33590:SF3,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	49600159	49600159	A	T	1	0	0	0	0	1	0	0	0	5362	188	7	4		4	FAM186B	12	49600159	Missense_Mutation	SNP	A	C3N-02089_TP	823878	49600159	83675150	672	29469											
SLC11A2	0	.	GRCh38	chr12	51005417	51005417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtgaaagcccagagtttaCgaaagctaaaacaagagtac	17	6	10	8	2	0	3	0	1	0	2	0	4	0	3	1	1	5	3	1	1	7	4	rs773212190		C3N-02089_TP	C3N-02089_NB	C	C																c.290G>C	p.Arg97Pro	p.R97P	ENST00000394904	4/16	368	299	69	340	340	0	strelka-varscan-mutect	SLC11A2,missense_variant,p.Arg97Pro,ENST00000394904,NM_001174125.1;SLC11A2,missense_variant,p.Arg68Pro,ENST00000262052,NM_000617.2,NM_001174128.1;SLC11A2,missense_variant,p.Arg68Pro,ENST00000262051,NM_001174126.1,NM_001174127.1;SLC11A2,missense_variant,p.Arg68Pro,ENST00000547198,;SLC11A2,missense_variant,p.Arg68Pro,ENST00000541174,NM_001174129.1;SLC11A2,missense_variant,p.Arg97Pro,ENST00000547688,;SLC11A2,missense_variant,p.Arg64Pro,ENST00000545993,NM_001174130.1;SLC11A2,missense_variant,p.Arg21Pro,ENST00000550714,;SLC11A2,missense_variant,p.Arg68Pro,ENST00000548193,;SLC11A2,5_prime_UTR_variant,,ENST00000546743,;SLC11A2,5_prime_UTR_variant,,ENST00000547579,;SLC11A2,5_prime_UTR_variant,,ENST00000549110,;SLC11A2,5_prime_UTR_variant,,ENST00000547732,;SLC11A2,intron_variant,,ENST00000546488,;SLC11A2,non_coding_transcript_exon_variant,,ENST00000549193,;SLC11A2,non_coding_transcript_exon_variant,,ENST00000550995,;SLC11A2,missense_variant,p.Arg68Pro,ENST00000546636,;SLC11A2,3_prime_UTR_variant,,ENST00000547510,;SLC11A2,3_prime_UTR_variant,,ENST00000549625,;SLC11A2,downstream_gene_variant,,ENST00000550329,;	G	ENST00000394904	Transcript	missense_variant	340/4156	290/1773	97/590	R/P	cGt/cCt	rs773212190	1		-1	SLC11A2	HGNC	HGNC:10908	protein_coding	YES	CCDS53793.1	ENSP00000378364	P49281		UPI00001FC234	NM_001174125.1	deleterious(0)		4/16		HAMAP:MF_00221,hmmpanther:PTHR11706:SF40,hmmpanther:PTHR11706,TIGRFAM_domain:TIGR01197																	MODERATE	1	SNV	1			1										PASS		rs773212190	.												G	3	3	90	51005417	51005417	C	G	1	0	0	0	0	1	0	0	0	14646	536	19	4		4	SLC11A2	12	51005417	Missense_Mutation	SNP	C	C3N-02089_TP	1405258	51005417	82269892	673	29470											
ANKRD33	0	.	GRCh38	chr12	51889441	51889441	+	Missense_Mutation	SNP	G	G	T																															cctggaacgccgggaccagcGggggctcacggcgttaatga																								rs150583334		C3N-02089_TP	C3N-02089_NB	G	G																c.596G>T	p.Arg199Leu	p.R199L	ENST00000301190	4/5	258	217	41	181	181	0	strelka-varscan-mutect	ANKRD33,missense_variant,p.Arg199Leu,ENST00000301190,NM_182608.3;ANKRD33,missense_variant,p.Arg64Leu,ENST00000340970,NM_001130015.1;ANKRD33,non_coding_transcript_exon_variant,,ENST00000547119,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000549316,;ANKRD33,3_prime_UTR_variant,,ENST00000549751,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548526,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548383,;ANKRD33,upstream_gene_variant,,ENST00000550652,;	T	ENST00000301190	Transcript	missense_variant	823/1935	596/1359	199/452	R/L	cGg/cTg	rs150583334	1		1	ANKRD33	HGNC	HGNC:13788	protein_coding	YES	CCDS8815.1	ENSP00000301190	Q7Z3H0		UPI00003668C0	NM_182608.3	tolerated(0.31)		4/5		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF29,Superfamily_domains:SSF48403																	MODERATE	1	SNV	2			1										PASS		rs150583334	.												T	3	4	90	51889441	51889441	G	T	1	0	0	0	0	1	0	0	0	765	1116	39	1		1	ANKRD33	12	51889441	Missense_Mutation	SNP	G	C3N-02089_TP	884024	51889441	81385868	674	29471	613	2									
ANKRD33	0	.	GRCh38	chr12	51889442	51889442	+	Silent	SNP	G	G	T																															ctggaacgccgggaccagcgGgggctcacggcgttaatgaa																								novel		C3N-02089_TP	C3N-02089_NB	G	G																c.597G>T	p.=	p.R199R	ENST00000301190	4/5	258	219	39	183	183	0	strelka-varscan-mutect	ANKRD33,synonymous_variant,p.=,ENST00000301190,NM_182608.3;ANKRD33,synonymous_variant,p.=,ENST00000340970,NM_001130015.1;ANKRD33,non_coding_transcript_exon_variant,,ENST00000547119,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000549316,;ANKRD33,3_prime_UTR_variant,,ENST00000549751,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548526,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548383,;ANKRD33,upstream_gene_variant,,ENST00000550652,;	T	ENST00000301190	Transcript	synonymous_variant	824/1935	597/1359	199/452	R	cgG/cgT		1		1	ANKRD33	HGNC	HGNC:13788	protein_coding	YES	CCDS8815.1	ENSP00000301190	Q7Z3H0		UPI00003668C0	NM_182608.3			4/5		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF29,Superfamily_domains:SSF48403																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	90	51889442	51889442	G	T	1	0	0	0	0	0	0	0	1	765	1219	43	2		2	ANKRD33	12	51889442	Silent	SNP	G	C3N-02089_TP	1	51889442	81385867	675	29472	613	2									
KRT81	0	.	GRCh38	chr12	52288135	52288135	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgagatgtgcgactggAgaatgaggatctcctgcagg	9	10	15	7	1	2	3	0	2	2	2	3	7	2	4	1	3	2	1	1	3	1	0	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.749T>C	p.Leu250Pro	p.L250P	ENST00000327741	5/9	439	407	32	362	362	0	varscan-mutect	KRT81,missense_variant,p.Leu250Pro,ENST00000327741,NM_002281.3;KRT81,missense_variant,p.Leu250Pro,ENST00000615839,;KRT86,intron_variant,,ENST00000423955,NM_001320198.1;KRT86,intron_variant,,ENST00000553310,;	G	ENST00000327741	Transcript	missense_variant	818/1929	749/1518	250/505	L/P	cTc/cCc		1		-1	KRT81	HGNC	HGNC:6458	protein_coding	YES	CCDS31805.1	ENSP00000369349	Q14533		UPI0000DBEEF8	NM_002281.3	deleterious(0)		5/9		Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF191,Pfam_domain:PF00038,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	52288135	52288135	A	G	1	0	0	0	0	1	0	0	0	8377	304	11	5		5	KRT81	12	52288135	Missense_Mutation	SNP	A	C3N-02089_TP	398693	52288135	80987174	676	29473											
KRT85	0	.	GRCh38	chr12	52367267	52367267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgaagcccgtcagccCtcggtagcaggacacccctc	7	5	11	18	3	1	0	1	0	0	0	3	2	1	1	5	2	4	3	5	2	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.139G>T	p.Gly47Trp	p.G47W	ENST00000257901	1/9	148	115	33	148	148	0	strelka-varscan-mutect	KRT85,missense_variant,p.Gly47Trp,ENST00000257901,NM_002283.3;KRT85,upstream_gene_variant,,ENST00000544265,NM_001300810.1;KRT85,upstream_gene_variant,,ENST00000552537,;	A	ENST00000257901	Transcript	missense_variant	215/2447	139/1524	47/507	G/W	Ggg/Tgg		1		-1	KRT85	HGNC	HGNC:6462	protein_coding	YES	CCDS8824.1	ENSP00000257901	P78386		UPI000006EB3B	NM_002283.3	deleterious(0.02)		1/9		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF113																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	52367267	52367267	C	A	1	0	0	0	0	1	0	0	0	8381	681	24	2		2	KRT85	12	52367267	Missense_Mutation	SNP	C	C3N-02089_TP	79132	52367267	80908042	677	29474											
KRT82	0	.	GRCh38	chr12	52406038	52406038	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacaggtggctcccagtcgGtacccgaagccaggcagggt	8	5	14	14	2	0	0	0	0	0	0	2	1	1	0	4	5	2	3	4	5	2	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.240C>A	p.Tyr80Ter	p.Y80*	ENST00000257974	1/9	198	146	52	136	136	0	strelka-varscan-mutect	KRT82,stop_gained,p.Tyr80Ter,ENST00000257974,NM_033033.3;RP11-1020M18.10,upstream_gene_variant,,ENST00000548135,;RP3-416H24.4,downstream_gene_variant,,ENST00000547174,;	T	ENST00000257974	Transcript	stop_gained	318/2664	240/1542	80/513	Y/*	taC/taA		1		-1	KRT82	HGNC	HGNC:6459	protein_coding	YES	CCDS8826.1	ENSP00000257974	Q9NSB4		UPI000013CFA4	NM_033033.3			1/9		Pfam_domain:PF16208,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF129																	HIGH	1	SNV	1			1										PASS		rs1251795753	.												T	4	4	90	52406038	52406038	G	T	1	0	0	0	0	0	1	0	0	8378	1256	44	2		2	KRT82	12	52406038	Nonsense_Mutation	SNP	G	C3N-02089_TP	38771	52406038	80869271	678	29475											
SOAT2	0	.	GRCh38	chr12	53118431	53118431	+	Missense_Mutation	SNP	C	C	A																															catctacagggagacttaccCtaggtaagaccctgcactcc																								novel		C3N-02089_TP	C3N-02089_NB	C	C																c.860C>A	p.Pro287His	p.P287H	ENST00000301466	8/15	245	206	39	190	190	0	strelka-mutect	SOAT2,missense_variant,p.Pro287His,ENST00000301466,NM_003578.3;SOAT2,downstream_gene_variant,,ENST00000551896,;SOAT2,missense_variant,p.Pro287His,ENST00000542365,;	A	ENST00000301466	Transcript	missense_variant	920/2044	860/1569	287/522	P/H	cCt/cAt		1		1	SOAT2	HGNC	HGNC:11178	protein_coding	YES	CCDS8847.1	ENSP00000301466	O75908		UPI0000135B61	NM_003578.3	deleterious(0)		8/15		Pfam_domain:PF03062,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500230,hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	53118431	53118431	C	A	1	0	0	0	0	1	0	0	0	15232	695	24	2		2	SOAT2	12	53118431	Missense_Mutation	SNP	C	C3N-02089_TP	712393	53118431	80156878	679	29476	614	2									
SOAT2	0	.	GRCh38	chr12	53118433	53118433	+	Frame_Shift_Del	DEL	A	A	-																															tctacagggagacttaccctAggtaagaccctgcactcctt																								novel		C3N-02089_TP	C3N-02089_NB	A	A																c.862delA	p.Arg288GlyfsTer39	p.R288Gfs*39	ENST00000301466	8/15	196	162	34	185	185	0	sindel-varindel	SOAT2,frameshift_variant,p.Arg288GlyfsTer39,ENST00000301466,NM_003578.3;SOAT2,downstream_gene_variant,,ENST00000551896,;SOAT2,frameshift_variant,p.Arg288GlyfsTer97,ENST00000542365,;	-	ENST00000301466	Transcript	frameshift_variant,splice_region_variant	922/2044	862/1569	288/522	R/X	Agg/gg		1		1	SOAT2	HGNC	HGNC:11178	protein_coding	YES	CCDS8847.1	ENSP00000301466	O75908		UPI0000135B61	NM_003578.3			8/15		Pfam_domain:PF03062,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500230,hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF10																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	90	53118433	53118433	A	-	1	0	1	0	1	0	0	0	0	15232	434	15	0		0	SOAT2	12	53118433	Frame_Shift_Del	DEL	A	C3N-02089_TP	2	53118433	80156876	680	29477	614	2									
OR10A7	0	.	GRCh38	chr12	55221484	55221484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcttggatgtccggtgttCctgtgtctatgctacagaca	6	14	11	10	1	2	1	0	0	2	1	4	2	4	2	2	2	2	3	2	2	2	4			C3N-02089_TP	C3N-02089_NB	C	C																c.460C>A	p.Pro154Thr	p.P154T	ENST00000326258	1/1	336	263	73	346	346	0	strelka-varscan-mutect	OR10A7,missense_variant,p.Pro154Thr,ENST00000326258,NM_001005280.1;	A	ENST00000326258	Transcript	missense_variant	460/951	460/951	154/316	P/T	Cct/Act	COSM694608	1		1	OR10A7	HGNC	HGNC:15329	protein_coding	YES	CCDS31815.1	ENSP00000326718	Q8NGE5	A0A126GVR3	UPI0000041E35	NM_001005280.1	tolerated(0.1)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF22,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	90	55221484	55221484	C	A	1	0	0	0	0	1	0	0	0	10970	855	30	2		2	OR10A7	12	55221484	Missense_Mutation	SNP	C	C3N-02089_TP	2103051	55221484	78053825	681	29478											
LRP1	0	.	GRCh38	chr12	57193217	57193217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaagatgagtttgagtgtGccaatggcgagtgcatcaac	12	9	12	8	1	1	3	1	2	0	1	1	4	1	3	1	1	3	2	1	1	3	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.7597G>T	p.Ala2533Ser	p.A2533S	ENST00000243077	46/89	249	198	51	178	178	0	strelka-varscan-mutect	LRP1,missense_variant,p.Ala2533Ser,ENST00000243077,NM_002332.2;LRP1,downstream_gene_variant,,ENST00000554118,;MIR1228,upstream_gene_variant,,ENST00000408438,;	T	ENST00000243077	Transcript	missense_variant	8063/14897	7597/13635	2533/4544	A/S	Gcc/Tcc		1		1	LRP1	HGNC	HGNC:6692	protein_coding	YES	CCDS8932.1	ENSP00000243077	Q07954		UPI00001B044F	NM_002332.2	tolerated(0.26)		46/89		Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_profiles:PS50068,SMART_domains:SM00192,Superfamily_domains:SSF57424																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	57193217	57193217	G	T	1	0	0	0	0	1	0	0	0	8846	1319	46	2		2	LRP1	12	57193217	Missense_Mutation	SNP	G	C3N-02089_TP	1971733	57193217	76082092	682	29479											
OS9	0	.	GRCh38	chr12	57715844	57715844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcttatgtgctgaccAttcgcactcctcggctctgc	4	13	8	16	2	2	1	0	1	2	0	5	1	3	1	3	1	3	4	3	1	1	2	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.664A>G	p.Ile222Val	p.I222V	ENST00000315970	6/15	123	83	40	85	85	0	strelka-varscan-mutect	OS9,missense_variant,p.Ile222Val,ENST00000315970,NM_006812.3;OS9,missense_variant,p.Ile222Val,ENST00000257966,NM_001261420.1;OS9,missense_variant,p.Ile222Val,ENST00000389142,NM_001017957.2;OS9,missense_variant,p.Ile170Val,ENST00000435406,NM_001261422.1;OS9,missense_variant,p.Ile189Val,ENST00000551035,NM_001261421.1;OS9,missense_variant,p.Ile222Val,ENST00000552285,NM_001017956.2;OS9,missense_variant,p.Ile222Val,ENST00000389146,NM_001017958.2;OS9,missense_variant,p.Ile163Val,ENST00000439210,NM_001261423.1;OS9,missense_variant,p.Ile162Val,ENST00000550372,;OS9,intron_variant,,ENST00000413095,;OS9,intron_variant,,ENST00000547079,;RP11-571M6.7,intron_variant,,ENST00000549477,;OS9,3_prime_UTR_variant,,ENST00000552787,;OS9,non_coding_transcript_exon_variant,,ENST00000549307,;OS9,non_coding_transcript_exon_variant,,ENST00000553208,;OS9,non_coding_transcript_exon_variant,,ENST00000550438,;OS9,upstream_gene_variant,,ENST00000546916,;OS9,upstream_gene_variant,,ENST00000550202,;OS9,upstream_gene_variant,,ENST00000550699,;	G	ENST00000315970	Transcript	missense_variant	705/2691	664/2004	222/667	I/V	Att/Gtt		1		1	OS9	HGNC	HGNC:16994	protein_coding	YES	CCDS31843.1	ENSP00000318165	Q13438		UPI0000130EAC	NM_006812.3	tolerated(1)		6/15		Gene3D:2.70.130.10,hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF0,Superfamily_domains:SSF50911																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	57715844	57715844	A	G	1	0	0	0	0	1	0	0	0	11338	217	8	5		5	OS9	12	57715844	Missense_Mutation	SNP	A	C3N-02089_TP	522627	57715844	75559465	683	29480											
CYP27B1	0	.	GRCh38	chr12	57763170	57763170	+	Missense_Mutation	SNP	C	C	A																															ccaaaaactgtaggttgatgCtcctttcaggtaccaggaca																								rs371735439		C3N-02089_TP	C3N-02089_NB	C	C																c.1499G>T	p.Ser500Ile	p.S500I	ENST00000228606	9/9	473	427	46	416	416	0	strelka-varscan-mutect	CYP27B1,missense_variant,p.Ser500Ile,ENST00000228606,NM_000785.3;MARCH9,downstream_gene_variant,,ENST00000266643,NM_138396.5;MARCH9,downstream_gene_variant,,ENST00000548358,;CYP27B1,downstream_gene_variant,,ENST00000546567,;CYP27B1,downstream_gene_variant,,ENST00000546609,;CYP27B1,downstream_gene_variant,,ENST00000546496,;CYP27B1,non_coding_transcript_exon_variant,,ENST00000547344,;CYP27B1,downstream_gene_variant,,ENST00000547451,;CYP27B1,downstream_gene_variant,,ENST00000552186,;	A	ENST00000228606	Transcript	missense_variant	1709/2540	1499/1527	500/508	S/I	aGc/aTc	rs371735439	1		-1	CYP27B1	HGNC	HGNC:2606	protein_coding	YES	CCDS8954.1	ENSP00000228606	O15528		UPI000000D77F	NM_000785.3	deleterious(0.02)		9/9		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF3,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		rs371735439	.												A	3	1	90	57763170	57763170	C	A	1	0	0	0	0	1	0	0	0	3962	797	28	2		2	CYP27B1	12	57763170	Missense_Mutation	SNP	C	C3N-02089_TP	47326	57763170	75512139	684	29481	615	2									
CYP27B1	0	.	GRCh38	chr12	57763175	57763175	+	Missense_Mutation	SNP	T	T	G																															aactgtaggttgatgctcctTtcaggtaccaggacagtccg																								novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1494A>C	p.Glu498Asp	p.E498D	ENST00000228606	9/9	476	429	47	425	424	1	strelka-varscan-mutect	CYP27B1,missense_variant,p.Glu498Asp,ENST00000228606,NM_000785.3;MARCH9,downstream_gene_variant,,ENST00000266643,NM_138396.5;MARCH9,downstream_gene_variant,,ENST00000548358,;CYP27B1,downstream_gene_variant,,ENST00000546567,;CYP27B1,downstream_gene_variant,,ENST00000546609,;CYP27B1,downstream_gene_variant,,ENST00000546496,;CYP27B1,non_coding_transcript_exon_variant,,ENST00000547344,;CYP27B1,downstream_gene_variant,,ENST00000547451,;CYP27B1,downstream_gene_variant,,ENST00000552186,;	G	ENST00000228606	Transcript	missense_variant	1704/2540	1494/1527	498/508	E/D	gaA/gaC		1		-1	CYP27B1	HGNC	HGNC:2606	protein_coding	YES	CCDS8954.1	ENSP00000228606	O15528		UPI000000D77F	NM_000785.3	tolerated(0.45)		9/9		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF3,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	57763175	57763175	T	G	1	0	0	0	0	1	0	0	0	3962	1838	64	5		5	CYP27B1	12	57763175	Missense_Mutation	SNP	T	C3N-02089_TP	5	57763175	75512134	685	29482	615	2									
AVIL	0	.	GRCh38	chr12	57807698	57807698	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taccattgatactccacaggGaccagctccaggttctcaat	11	10	7	13	0	1	1	1	1	1	0	4	2	3	2	4	2	3	2	4	2	3	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1224C>T	p.=	p.V408V	ENST00000257861	11/19	281	230	51	258	258	0	strelka-varscan-mutect	AVIL,synonymous_variant,p.=,ENST00000257861,NM_006576.3;TSFM,intron_variant,,ENST00000548851,;TSFM,downstream_gene_variant,,ENST00000550559,;AVIL,downstream_gene_variant,,ENST00000549994,;RP11-571M6.17,downstream_gene_variant,,ENST00000602802,;RNU6-1083P,upstream_gene_variant,,ENST00000384022,;AVIL,upstream_gene_variant,,ENST00000550083,;AVIL,3_prime_UTR_variant,,ENST00000549851,;AVIL,non_coding_transcript_exon_variant,,ENST00000548843,;AVIL,non_coding_transcript_exon_variant,,ENST00000550537,;AVIL,intron_variant,,ENST00000549548,;AVIL,upstream_gene_variant,,ENST00000549753,;	A	ENST00000257861	Transcript	synonymous_variant	1655/2891	1224/2460	408/819	V	gtC/gtT		1		-1	AVIL	HGNC	HGNC:14188	protein_coding	YES	CCDS8959.1	ENSP00000257861	O75366		UPI000013CF93	NM_006576.3			11/19		Gene3D:3.40.20.10,Pfam_domain:PF00626,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF33,SMART_domains:SM00262,Superfamily_domains:SSF55753,Superfamily_domains:SSF82754																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	57807698	57807698	G	A	1	0	0	0	0	0	0	0	1	1383	1161	41	3		3	AVIL	12	57807698	Silent	SNP	G	C3N-02089_TP	44523	57807698	75467611	686	29483											
PTPRB	0	.	GRCh38	chr12	70539000	70539000	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatgactggtttcggccCacgtcttttaactcctgtta	7	15	7	12	2	2	1	1	1	1	0	4	1	3	1	2	2	1	2	2	2	2	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.5793G>T	p.=	p.V1931V	ENST00000334414	27/34	205	167	38	221	221	0	strelka-varscan-mutect	PTPRB,synonymous_variant,p.=,ENST00000334414,NM_001109754.2;PTPRB,synonymous_variant,p.=,ENST00000550358,;PTPRB,synonymous_variant,p.=,ENST00000261266,NM_002837.4;PTPRB,synonymous_variant,p.=,ENST00000538708,NM_001206972.1;PTPRB,synonymous_variant,p.=,ENST00000550857,NM_001206971.1;RP11-588H23.3,non_coding_transcript_exon_variant,,ENST00000548687,;RP11-588H23.3,downstream_gene_variant,,ENST00000546836,;RP11-588H23.3,downstream_gene_variant,,ENST00000551438,;RP11-588H23.3,downstream_gene_variant,,ENST00000549460,;RP11-588H23.3,downstream_gene_variant,,ENST00000547656,;PTPRB,downstream_gene_variant,,ENST00000549400,;	A	ENST00000334414	Transcript	synonymous_variant	5838/12316	5793/6648	1931/2215	V	gtG/gtT		1		-1	PTPRB	HGNC	HGNC:9665	protein_coding	YES	CCDS44943.1	ENSP00000334928	P23467		UPI00002294FA	NM_001109754.2			27/34		PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF288,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	70539000	70539000	C	A	1	0	0	0	0	0	0	0	1	12950	581	21	2		2	PTPRB	12	70539000	Silent	SNP	C	C3N-02089_TP	12731302	70539000	62736309	687	29484											
PTPRB	0	.	GRCh38	chr12	70552843	70552843	+	Missense_Mutation	SNP	C	C	A																															gagtgggatcgcattttccaCctaggctctccatctctgct																								novel		C3N-02089_TP	C3N-02089_NB	C	C																c.5321G>T	p.Gly1774Val	p.G1774V	ENST00000334414	21/34	372	305	67	320	320	0	strelka-varscan-mutect	PTPRB,missense_variant,p.Gly1774Val,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Gly1686Val,ENST00000550358,;PTPRB,missense_variant,p.Gly1556Val,ENST00000261266,NM_002837.4;PTPRB,missense_variant,p.Gly1466Val,ENST00000538708,NM_001206972.1;PTPRB,missense_variant,p.Gly1466Val,ENST00000550857,NM_001206971.1;	A	ENST00000334414	Transcript	missense_variant	5366/12316	5321/6648	1774/2215	G/V	gGt/gTt		1		-1	PTPRB	HGNC	HGNC:9665	protein_coding	YES	CCDS44943.1	ENSP00000334928	P23467		UPI00002294FA	NM_001109754.2	deleterious(0)		21/34		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF288,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	70552843	70552843	C	A	1	0	0	0	0	1	0	0	0	12950	507	18	2		2	PTPRB	12	70552843	Missense_Mutation	SNP	C	C3N-02089_TP	13843	70552843	62722466	688	29485	616	2									
PTPRB	0	.	GRCh38	chr12	70552844	70552844	+	Missense_Mutation	SNP	C	C	A																															agtgggatcgcattttccacCtaggctctccatctctgctc																								novel		C3N-02089_TP	C3N-02089_NB	C	C																c.5320G>T	p.Gly1774Cys	p.G1774C	ENST00000334414	21/34	369	303	66	324	323	1	strelka-varscan-mutect	PTPRB,missense_variant,p.Gly1774Cys,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Gly1686Cys,ENST00000550358,;PTPRB,missense_variant,p.Gly1556Cys,ENST00000261266,NM_002837.4;PTPRB,missense_variant,p.Gly1466Cys,ENST00000538708,NM_001206972.1;PTPRB,missense_variant,p.Gly1466Cys,ENST00000550857,NM_001206971.1;	A	ENST00000334414	Transcript	missense_variant	5365/12316	5320/6648	1774/2215	G/C	Ggt/Tgt		1		-1	PTPRB	HGNC	HGNC:9665	protein_coding	YES	CCDS44943.1	ENSP00000334928	P23467		UPI00002294FA	NM_001109754.2	deleterious(0)		21/34		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF288,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	70552844	70552844	C	A	1	0	0	0	0	1	0	0	0	12950	681	24	2		2	PTPRB	12	70552844	Missense_Mutation	SNP	C	C3N-02089_TP	1	70552844	62722465	689	29486	616	2									
ZFC3H1	0	.	GRCh38	chr12	71645016	71645016	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccattttttactggctgaCtgaagagccaaaaggcgaag	12	10	11	8	1	0	3	0	2	0	1	0	4	0	3	2	2	3	1	2	2	5	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1140G>A	p.=	p.Q380Q	ENST00000378743	4/35	260	234	26	246	245	1	strelka-varscan-mutect	ZFC3H1,synonymous_variant,p.=,ENST00000378743,NM_144982.4;ZFC3H1,non_coding_transcript_exon_variant,,ENST00000550712,;ZFC3H1,synonymous_variant,p.=,ENST00000552994,;	T	ENST00000378743	Transcript	synonymous_variant	1499/7285	1140/5970	380/1989	Q	caG/caA		1		-1	ZFC3H1	HGNC	HGNC:28328	protein_coding	YES	CCDS41813.1	ENSP00000368017	O60293		UPI00003668E9	NM_144982.4			4/35		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21563,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	71645016	71645016	C	T	1	0	0	0	0	0	0	0	1	18210	564	20	3		3	ZFC3H1	12	71645016	Silent	SNP	C	C3N-02089_TP	1092172	71645016	61630293	690	29487											
TRHDE	0	.	GRCh38	chr12	72618890	72618890	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttttaactgtaGggctggctatttgcctcaga	6	21	8	6	0	1	1	1	0	0	1	1	1	1	1	1	2	2	3	1	2	3	10	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2187-1G>A		p.X729_splice	ENST00000261180		45	35	10	51	51	0	strelka-varscan-mutect	TRHDE,splice_acceptor_variant,,ENST00000261180,NM_013381.2;TRHDE,splice_acceptor_variant,,ENST00000549138,;TRHDE,splice_acceptor_variant,,ENST00000549922,;	A	ENST00000261180	Transcript	splice_acceptor_variant	-/10733	2187/3075	729/1024				1		1	TRHDE	HGNC	HGNC:30748	protein_coding	YES	CCDS9004.1	ENSP00000261180	Q9UKU6		UPI0000136D52	NM_013381.2				12/18																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	90	72618890	72618890	G	A	1	0	0	0	0	0	0	1	0	16968	1014	35	3		3	TRHDE	12	72618890	Splice_Site	SNP	G	C3N-02089_TP	973874	72618890	60656419	691	29488											
TRHDE	0	.	GRCh38	chr12	72621139	72621139	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagcaagttgcaacaacatAtatcaagcttgggtggccga	15	8	10	8	1	1	0	1	0	0	0	1	1	1	0	1	2	5	4	1	2	7	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.2366A>G	p.Tyr789Cys	p.Y789C	ENST00000261180	14/19	189	157	32	138	138	0	strelka-varscan-mutect	TRHDE,missense_variant,p.Tyr789Cys,ENST00000261180,NM_013381.2;TRHDE,downstream_gene_variant,,ENST00000549138,;TRHDE,non_coding_transcript_exon_variant,,ENST00000549922,;	G	ENST00000261180	Transcript	missense_variant	2462/10733	2366/3075	789/1024	Y/C	tAt/tGt		1		1	TRHDE	HGNC	HGNC:30748	protein_coding	YES	CCDS9004.1	ENSP00000261180	Q9UKU6		UPI0000136D52	NM_013381.2	deleterious(0)		14/19		Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	72621139	72621139	A	G	1	0	0	0	0	1	0	0	0	16968	449	16	5		5	TRHDE	12	72621139	Missense_Mutation	SNP	A	C3N-02089_TP	2249	72621139	60654170	692	29489											
NAV3	0	.	GRCh38	chr12	78177182	78177183	+	Frame_Shift_Ins	INS	-	-	A																															cctttgggaagaaaaagtccINSaccaagcctccttcatcaca																								novel		C3N-02089_TP	C3N-02089_NB	-	-																c.5167dupA	p.Thr1723AsnfsTer9	p.T1723Nfs*9	ENST00000397909	27/40	320	264	56	308	308	0	sindel-varindel-pindel	NAV3,frameshift_variant,p.Thr1723AsnfsTer9,ENST00000397909,NM_001024383.1;NAV3,frameshift_variant,p.Thr1723AsnfsTer9,ENST00000536525,NM_014903.5;NAV3,frameshift_variant,p.Thr618AsnfsTer9,ENST00000552895,;NAV3,frameshift_variant,p.Thr345AsnfsTer9,ENST00000550788,;NAV3,upstream_gene_variant,,ENST00000552300,;NAV3,upstream_gene_variant,,ENST00000548948,;	A	ENST00000397909	Transcript	frameshift_variant	5339-5340/9821	5166-5167/7158	1722-1723/2385	-/X	-/A		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1			27/40		Low_complexity_(Seg):seg,hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	HIGH	1	insertion	1	1		1										PASS		.	.												A	7	5	90	78177182	78177182	-	A	1	0	1	1	0	0	0	0	0	10194	581	21	0		0	NAV3	12	78177182	Frame_Shift_Ins	INS	-	C3N-02089_TP	5556043	78177182	55098127	693	29490											
SLC6A15	0	.	GRCh38	chr12	84863588	84863588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagcccagcatatcttttaGgtcttccataaacctgaata	14	12	5	10	0	2	1	0	1	2	0	3	1	3	1	3	1	3	1	3	1	7	6	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1669C>A	p.Leu557Ile	p.L557I	ENST00000266682	11/12	46	35	11	68	68	0	strelka-varscan-mutect	SLC6A15,missense_variant,p.Leu557Ile,ENST00000266682,NM_182767.5;SLC6A15,missense_variant,p.Leu265Ile,ENST00000309283,;SLC6A15,missense_variant,p.Leu450Ile,ENST00000552192,NM_001146335.2;SLC6A15,non_coding_transcript_exon_variant,,ENST00000548267,;	T	ENST00000266682	Transcript	missense_variant	2211/4879	1669/2193	557/730	L/I	Cta/Ata		1		-1	SLC6A15	HGNC	HGNC:13621	protein_coding	YES	CCDS9026.1	ENSP00000266682	Q9H2J7		UPI0000038BF2	NM_182767.5	tolerated(1)		11/12		Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	84863588	84863588	G	T	1	0	0	0	0	1	0	0	0	14961	991	35	2		2	SLC6A15	12	84863588	Missense_Mutation	SNP	G	C3N-02089_TP	6686406	84863588	48411721	694	29491											
LRRIQ1	0	.	GRCh38	chr12	85056984	85056984	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgacctgctgtgtatcaGagtcaacccttctatattct	9	14	7	11	0	4	2	2	1	2	1	4	2	4	2	2	0	2	3	2	0	4	5	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2191G>T	p.Glu731Ter	p.E731*	ENST00000393217	8/27	96	79	17	105	105	0	strelka-varscan-mutect	LRRIQ1,stop_gained,p.Glu731Ter,ENST00000393217,NM_001079910.1;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;	T	ENST00000393217	Transcript	stop_gained	2252/5394	2191/5169	731/1722	E/*	Gag/Tag		1		1	LRRIQ1	HGNC	HGNC:25708	protein_coding	YES	CCDS41816.1	ENSP00000376910	Q96JM4	A0A140VJN5	UPI0000ED4E82	NM_001079910.1			8/27																			HIGH	1	SNV	5			1										PASS		.	.												T	4	4	90	85056984	85056984	G	T	1	0	0	0	0	0	1	0	0	8935	943	33	2		2	LRRIQ1	12	85056984	Nonsense_Mutation	SNP	G	C3N-02089_TP	193396	85056984	48218325	695	29492											
CFAP54	0	.	GRCh38	chr12	96626940	96626940	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtccatgacttcttgaaaagGtacttgcaattatcagtgtt	11	15	8	7	0	2	2	1	2	1	0	3	2	3	2	1	1	2	3	1	1	5	6	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.4103+1G>C		p.X1368_splice	ENST00000524981		14	11	3	21	21	0	strelka-mutect	CFAP54,splice_donor_variant,,ENST00000524981,NM_001306084.1;CFAP54,splice_donor_variant,,ENST00000637336,;CFAP54,splice_donor_variant,,ENST00000550977,;CFAP54,splice_donor_variant,,ENST00000554108,;	C	ENST00000524981	Transcript	splice_donor_variant	-/9766	4103/9291	1368/3096				1		1	CFAP54	HGNC	HGNC:26456	protein_coding	YES	CCDS76588.1	ENSP00000431759	Q96N23		UPI0001F77A4D	NM_001306084.1				30/67																		HIGH	1	SNV	5			1										PASS		rs1441860078	.												C	5	2	90	96626940	96626940	G	C	1	0	0	0	0	0	0	1	0	3025	1275	44	4		4	CFAP54	12	96626940	Splice_Site	SNP	G	C3N-02089_TP	11569956	96626940	36648369	696	29493											
ANKS1B	0	.	GRCh38	chr12	98829272	98829272	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatgataatgtgaggaaCgtctagggagccaccagtgg	11	8	14	8	1	1	2	0	2	1	0	1	4	1	4	2	3	3	1	2	3	3	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2968G>T	p.Val990Phe	p.V990F	ENST00000547776	19/26	283	236	47	217	217	0	strelka-varscan-mutect	ANKS1B,missense_variant,p.Val990Phe,ENST00000547776,NM_152788.4;ANKS1B,missense_variant,p.Val216Phe,ENST00000549493,NM_181670.3;ANKS1B,missense_variant,p.Val262Phe,ENST00000550778,;ANKS1B,missense_variant,p.Val216Phe,ENST00000546960,NM_001204068.1;ANKS1B,5_prime_UTR_variant,,ENST00000341752,NM_001204081.1;ANKS1B,5_prime_UTR_variant,,ENST00000333732,NM_001204079.1,NM_001204080.1,NM_001204065.1;ANKS1B,5_prime_UTR_variant,,ENST00000546364,;ANKS1B,5_prime_UTR_variant,,ENST00000551560,;ANKS1B,5_prime_UTR_variant,,ENST00000552407,;ANKS1B,5_prime_UTR_variant,,ENST00000552748,;ANKS1B,5_prime_UTR_variant,,ENST00000548447,;ANKS1B,intron_variant,,ENST00000550693,NM_001204069.1;ANKS1B,intron_variant,,ENST00000549025,NM_001204066.1;ANKS1B,intron_variant,,ENST00000547010,;ANKS1B,intron_variant,,ENST00000549558,NM_020140.3;ANKS1B,intron_variant,,ENST00000547446,NM_001204067.1;ANKS1B,intron_variant,,ENST00000546568,NM_001204070.1;ANKS1B,intron_variant,,ENST00000549797,;ANKS1B,intron_variant,,ENST00000551613,;ANKS1B,intron_variant,,ENST00000551830,;ANKS1B,5_prime_UTR_variant,,ENST00000547362,;ANKS1B,downstream_gene_variant,,ENST00000552245,;	A	ENST00000547776	Transcript	missense_variant	2968/3885	2968/3747	990/1248	V/F	Gtt/Ttt		1		-1	ANKS1B	HGNC	HGNC:24600	protein_coding	YES	CCDS55872.1	ENSP00000449629	Q7Z6G8		UPI00003FE521	NM_152788.4	tolerated(0.08)		19/26		hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	98829272	98829272	C	A	1	0	0	0	0	1	0	0	0	795	536	19	1		1	ANKS1B	12	98829272	Missense_Mutation	SNP	C	C3N-02089_TP	2202332	98829272	34446037	697	29494											
UHRF1BP1L	0	.	GRCh38	chr12	100051154	100051154	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagtttcaccataattctgTaggtttgcaccagcattcac	11	13	7	10	0	3	0	2	0	1	0	3	1	3	0	2	1	2	5	2	1	3	6	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.3492A>G	p.=	p.L1164L	ENST00000279907	16/21	216	175	41	230	230	0	strelka-varscan-mutect	UHRF1BP1L,synonymous_variant,p.=,ENST00000279907,NM_015054.1;UHRF1BP1L,synonymous_variant,p.=,ENST00000545232,;UHRF1BP1L,upstream_gene_variant,,ENST00000548712,;UHRF1BP1L,non_coding_transcript_exon_variant,,ENST00000547504,;	C	ENST00000279907	Transcript	synonymous_variant	3705/5168	3492/4395	1164/1464	L	ctA/ctG		1		-1	UHRF1BP1L	HGNC	HGNC:29102	protein_coding	YES	CCDS31882.1	ENSP00000279907	A0JNW5		UPI0000160563	NM_015054.1			16/21		hmmpanther:PTHR22774,hmmpanther:PTHR22774:SF17																	LOW	1	SNV	1			1										PASS		rs1388113784	.												C	2	2	90	100051154	100051154	T	C	1	0	0	0	0	0	0	0	1	17493	1625	57	5		5	UHRF1BP1L	12	100051154	Silent	SNP	T	C3N-02089_TP	1221882	100051154	33224155	698	29495											
ACTR6	0	.	GRCh38	chr12	100210152	100210152	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttgatagtggatattcCtttacacatatagttcctta	11	18	6	6	0	0	1	0	1	0	0	2	2	2	2	2	1	1	2	2	1	6	11	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.459C>A	p.=	p.S153S	ENST00000188312	5/11	141	129	12	147	147	0	strelka-varscan-mutect	ACTR6,synonymous_variant,p.=,ENST00000188312,NM_022496.4;ACTR6,synonymous_variant,p.=,ENST00000546902,;ACTR6,synonymous_variant,p.=,ENST00000551617,;ACTR6,synonymous_variant,p.=,ENST00000552376,;ACTR6,synonymous_variant,p.=,ENST00000551652,;ACTR6,downstream_gene_variant,,ENST00000550813,;ACTR6,3_prime_UTR_variant,,ENST00000548180,;DEPDC4,intron_variant,,ENST00000378244,;ACTR6,intron_variant,,ENST00000553038,;ACTR6,intron_variant,,ENST00000552064,;ACTR6,downstream_gene_variant,,ENST00000551440,;ACTR6,downstream_gene_variant,,ENST00000547458,;ACTR6,downstream_gene_variant,,ENST00000551517,;ACTR6,downstream_gene_variant,,ENST00000549977,;	A	ENST00000188312	Transcript	synonymous_variant	1224/2464	459/1191	153/396	S	tcC/tcA		1		1	ACTR6	HGNC	HGNC:24025	protein_coding	YES	CCDS9074.1	ENSP00000188312	Q9GZN1		UPI0000044716	NM_022496.4			5/11		hmmpanther:PTHR11937:SF47,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	100210152	100210152	C	A	1	0	0	0	0	0	0	0	1	259	668	24	2		2	ACTR6	12	100210152	Silent	SNP	C	C3N-02089_TP	158998	100210152	33065157	699	29496											
NR1H4	0	.	GRCh38	chr12	100561973	100561973	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagaggagtatgctctgctTacagcaattgttatcctgtc	10	13	9	9	0	1	1	0	0	1	1	3	2	2	2	1	1	4	5	1	1	5	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1197T>C	p.=	p.L399L	ENST00000551379	8/9	253	221	32	280	279	1	strelka-varscan-mutect	NR1H4,synonymous_variant,p.=,ENST00000548884,NM_005123.3;NR1H4,synonymous_variant,p.=,ENST00000392986,NM_001206979.1,NM_001206977.1;NR1H4,synonymous_variant,p.=,ENST00000549996,NM_001206978.1;NR1H4,synonymous_variant,p.=,ENST00000188403,NM_001206992.1;NR1H4,synonymous_variant,p.=,ENST00000551379,NM_001206993.1;NR1H4,3_prime_UTR_variant,,ENST00000321046,;	C	ENST00000551379	Transcript	synonymous_variant	1225/1489	1197/1461	399/486	L	ctT/ctC		1		1	NR1H4	HGNC	HGNC:7967	protein_coding	YES	CCDS55876.1	ENSP00000447149	Q96RI1		UPI000006E701	NM_001206993.1			8/9		hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF155,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR00398,Prints_domain:PR00546																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	100561973	100561973	T	C	1	0	0	0	0	0	0	0	1	10675	1741	61	5		5	NR1H4	12	100561973	Silent	SNP	T	C3N-02089_TP	351821	100561973	32713336	700	29497											
ANO4	0	.	GRCh38	chr12	101042439	101042439	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgtctttttgtatggCgtcaccactctggatcacag	6	17	9	9	1	4	0	2	0	2	0	4	1	4	1	1	2	0	2	1	2	1	5	rs761457503		C3N-02089_TP	C3N-02089_NB	C	C																c.1125C>A	p.=	p.G375G	ENST00000392977	12/28	167	133	34	162	162	0	strelka-varscan-mutect	ANO4,synonymous_variant,p.=,ENST00000392979,NM_178826.3;ANO4,synonymous_variant,p.=,ENST00000392977,NM_001286615.1,NM_001286616.1;RP11-350G24.1,upstream_gene_variant,,ENST00000549036,;ANO4,non_coding_transcript_exon_variant,,ENST00000548940,;ANO4,downstream_gene_variant,,ENST00000549234,;	A	ENST00000392977	Transcript	synonymous_variant	1335/3509	1125/2868	375/955	G	ggC/ggA	rs761457503	1		1	ANO4	HGNC	HGNC:23837	protein_coding	YES	CCDS66445.1	ENSP00000376703	Q32M45		UPI0000577AB6	NM_001286615.1,NM_001286616.1			12/28		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Pfam_domain:PF04547																	LOW	1	SNV	2			1										PASS		rs761457503	.												A	2	1	90	101042439	101042439	C	A	1	0	0	0	0	0	0	0	1	806	755	27	1		1	ANO4	12	101042439	Silent	SNP	C	C3N-02089_TP	480466	101042439	32232870	701	29498											
UTP20	0	.	GRCh38	chr12	101338841	101338841	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaataggaggaagattaatTctacctcatgtacctgcaat	15	11	7	8	0	2	1	1	0	1	1	2	3	2	3	2	2	3	2	2	2	7	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.3897T>C	p.=	p.I1299I	ENST00000261637	31/62	115	103	12	105	105	0	strelka-varscan-mutect	UTP20,synonymous_variant,p.=,ENST00000261637,NM_014503.2;	C	ENST00000261637	Transcript	synonymous_variant	4071/9025	3897/8358	1299/2785	I	atT/atC		1		1	UTP20	HGNC	HGNC:17897	protein_coding	YES	CCDS9081.1	ENSP00000261637	O75691		UPI00001FB38B	NM_014503.2			31/62		Gene3D:1.25.10.10,Pfam_domain:PF07539,hmmpanther:PTHR17695,hmmpanther:PTHR17695:SF11,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	101338841	101338841	T	C	1	0	0	0	0	0	0	0	1	17642	1771	62	5		5	UTP20	12	101338841	Silent	SNP	T	C3N-02089_TP	296402	101338841	31936468	702	29499											
NUP37	0	.	GRCh38	chr12	102101065	102101065	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatcctgaagatctgaagtAaataatctaattttcatatc	15	16	4	6	0	3	3	1	2	2	1	5	3	4	3	1	0	0	1	1	0	8	7	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.321T>G	p.Phe107Leu	p.F107L	ENST00000552283	4/10	87	77	10	105	104	1	strelka-varscan-mutect	NUP37,missense_variant,p.Phe107Leu,ENST00000552283,;NUP37,missense_variant,p.Phe107Leu,ENST00000251074,NM_024057.2;NUP37,missense_variant,p.Phe107Leu,ENST00000551744,;NUP37,non_coding_transcript_exon_variant,,ENST00000543021,;NUP37,non_coding_transcript_exon_variant,,ENST00000551200,;	C	ENST00000552283	Transcript	missense_variant	461/2372	321/981	107/326	F/L	ttT/ttG		1		-1	NUP37	HGNC	HGNC:29929	protein_coding	YES	CCDS9089.1	ENSP00000448054	Q8NFH4		UPI00000372E7		tolerated(0.29)		4/10		hmmpanther:PTHR22806,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	90	102101065	102101065	A	C	1	0	0	0	0	1	0	0	0	10829	359	13	5		5	NUP37	12	102101065	Missense_Mutation	SNP	A	C3N-02089_TP	762224	102101065	31174244	703	29500											
KIAA1033	0	.	GRCh38	chr12	105164683	105164683	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgagcagtgcaagaattTtcttcagagcagacaagact	14	9	9	9	0	2	5	1	1	1	4	2	5	2	5	0	0	3	3	0	0	3	3	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.3400T>G	p.Phe1134Val	p.F1134V	ENST00000620430	32/33	272	245	27	260	260	0	strelka-varscan-mutect	KIAA1033,missense_variant,p.Phe1133Val,ENST00000332180,NM_015275.2;KIAA1033,missense_variant,p.Phe1134Val,ENST00000620430,NM_001293640.1;KIAA1033,downstream_gene_variant,,ENST00000551224,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000547171,;KIAA1033,downstream_gene_variant,,ENST00000551290,;KIAA1033,3_prime_UTR_variant,,ENST00000550053,;KIAA1033,downstream_gene_variant,,ENST00000550786,;KIAA1033,downstream_gene_variant,,ENST00000550036,;	G	ENST00000620430	Transcript	missense_variant	3487/5807	3400/3525	1134/1174	F/V	Ttc/Gtc		1		1	KIAA1033	HGNC	HGNC:29174	protein_coding	YES	CCDS73514.1	ENSP00000484713		A0A087X256	UPI000387C216	NM_001293640.1	deleterious(0)		32/33		Pfam_domain:PF14746,hmmpanther:PTHR31409,hmmpanther:PTHR31409:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	105164683	105164683	T	G	1	0	0	0	0	1	0	0	0	8099	1841	64	5		5	KIAA1033	12	105164683	Missense_Mutation	SNP	T	C3N-02089_TP	3063618	105164683	28110626	704	29501											
FICD	0	.	GRCh38	chr12	108518820	108518820	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaacaccctcaccctctCggaaatcaggcacatcctgg	10	6	9	16	1	3	0	2	0	1	0	5	1	4	1	3	4	1	2	3	4	2	0	rs778735949		C3N-02089_TP	C3N-02089_NB	C	C																c.722C>A	p.Ser241Ter	p.S241*	ENST00000552695	3/3	456	379	77	369	369	0	strelka-varscan-mutect	FICD,stop_gained,p.Ser241Ter,ENST00000552695,NM_007076.2;FICD,3_prime_UTR_variant,,ENST00000361549,;FICD,intron_variant,,ENST00000549641,;SART3,downstream_gene_variant,,ENST00000228284,NM_014706.3;SART3,downstream_gene_variant,,ENST00000431469,;FICD,downstream_gene_variant,,ENST00000552758,;SART3,downstream_gene_variant,,ENST00000546728,;	A	ENST00000552695	Transcript	stop_gained	957/3347	722/1377	241/458	S/*	tCg/tAg	rs778735949	1		1	FICD	HGNC	HGNC:18416	protein_coding	YES	CCDS9116.1	ENSP00000446479	Q9BVA6	A0A024RBM8	UPI0000048F49	NM_007076.2			3/3		Gene3D:1.10.3290.10,hmmpanther:PTHR13504,hmmpanther:PTHR13504:SF34																	HIGH	1	SNV	1			1										PASS		rs778735949	.												A	4	1	90	108518820	108518820	C	A	1	0	0	0	0	0	1	0	0	5752	893	31	1		1	FICD	12	108518820	Nonsense_Mutation	SNP	C	C3N-02089_TP	3354137	108518820	24756489	705	29502											
SSH1	0	.	GRCh38	chr12	108789169	108789169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcaggagccccgctggCtgtagggtacatgcagtcgg	6	7	16	12	2	1	0	1	0	0	0	2	1	1	1	3	5	3	5	3	5	2	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1969G>T	p.Ala657Ser	p.A657S	ENST00000326495	15/15	276	216	60	186	186	0	strelka-varscan-mutect	SSH1,missense_variant,p.Ala657Ser,ENST00000326495,NM_018984.3;SSH1,downstream_gene_variant,,ENST00000326470,NM_001161331.1;SSH1,downstream_gene_variant,,ENST00000551165,NM_001161330.1;SSH1,3_prime_UTR_variant,,ENST00000546433,;	A	ENST00000326495	Transcript	missense_variant	2063/13040	1969/3150	657/1049	A/S	Gcc/Tcc		1		-1	SSH1	HGNC	HGNC:30579	protein_coding	YES	CCDS9121.1	ENSP00000315713	Q8WYL5		UPI000003E894	NM_018984.3	deleterious_low_confidence(0.03)		15/15																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	108789169	108789169	C	A	1	0	0	0	0	1	0	0	0	15560	797	28	2		2	SSH1	12	108789169	Missense_Mutation	SNP	C	C3N-02089_TP	270349	108789169	24486140	706	29503											
SSH1	0	.	GRCh38	chr12	108800812	108800812	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataaaatgatacgcttcattCcagtgggcgaggaggtctgt	11	11	12	7	2	2	1	1	1	1	0	3	3	3	2	1	3	1	1	1	3	3	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1116G>T	p.Trp372Cys	p.W372C	ENST00000326495	12/15	434	333	101	349	349	0	strelka-varscan-mutect	SSH1,missense_variant,p.Trp372Cys,ENST00000326495,NM_018984.3;SSH1,missense_variant,p.Trp383Cys,ENST00000326470,NM_001161331.1;SSH1,missense_variant,p.Trp372Cys,ENST00000551165,NM_001161330.1;SSH1,3_prime_UTR_variant,,ENST00000546433,;	A	ENST00000326495	Transcript	missense_variant	1210/13040	1116/3150	372/1049	W/C	tgG/tgT		1		-1	SSH1	HGNC	HGNC:30579	protein_coding	YES	CCDS9121.1	ENSP00000315713	Q8WYL5		UPI000003E894	NM_018984.3	deleterious(0)		12/15		PROSITE_profiles:PS50054,PROSITE_profiles:PS50056,hmmpanther:PTHR10159:SF138,hmmpanther:PTHR10159,Pfam_domain:PF00782,Gene3D:3.90.190.10,SMART_domains:SM00195,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	108800812	108800812	C	A	1	0	0	0	0	1	0	0	0	15560	856	30	2		2	SSH1	12	108800812	Missense_Mutation	SNP	C	C3N-02089_TP	11643	108800812	24474497	707	29504											
ACACB	0	.	GRCh38	chr12	109167964	109167964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgcaggtgggcctatgaGatgttccgcaacgagcgggc	8	7	15	11	4	0	1	0	1	0	1	2	3	2	1	3	3	2	3	3	3	2	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.855G>T	p.Glu285Asp	p.E285D	ENST00000338432	4/53	245	188	57	160	160	0	strelka-varscan-mutect	ACACB,missense_variant,p.Glu285Asp,ENST00000338432,;ACACB,missense_variant,p.Glu285Asp,ENST00000377848,NM_001093.3;ACACB,missense_variant,p.Glu83Asp,ENST00000544726,;ACACB,5_prime_UTR_variant,,ENST00000377854,;ACACB,downstream_gene_variant,,ENST00000546328,;	T	ENST00000338432	Transcript	missense_variant	974/9360	855/7377	285/2458	E/D	gaG/gaT		1		1	ACACB	HGNC	HGNC:85	protein_coding	YES	CCDS31898.1	ENSP00000341044	O00763		UPI0000DBEEFB		deleterious(0.01)		4/53		PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF94,hmmpanther:PTHR18866,Pfam_domain:PF00289,Gene3D:3.40.50.20,Superfamily_domains:SSF52440																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	109167964	109167964	G	T	1	0	0	0	0	1	0	0	0	150	933	33	2		2	ACACB	12	109167964	Missense_Mutation	SNP	G	C3N-02089_TP	367152	109167964	24107345	708	29505											
GIT2	0	.	GRCh38	chr12	109967466	109967466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgagcttacctgtctgcCatttgaggtattataaagtg	11	14	9	7	0	1	2	0	2	1	0	1	2	1	2	2	1	3	2	2	1	6	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.756G>T	p.Met252Ile	p.M252I	ENST00000355312	8/20	238	194	44	215	214	1	strelka-varscan-mutect	GIT2,missense_variant,p.Met252Ile,ENST00000355312,NM_057169.3;GIT2,missense_variant,p.Met252Ile,ENST00000361006,NM_001135214.1;GIT2,missense_variant,p.Met252Ile,ENST00000354574,NM_014776.3;GIT2,missense_variant,p.Met252Ile,ENST00000457474,NM_001135213.1;GIT2,missense_variant,p.Met252Ile,ENST00000547815,NM_139201.2;GIT2,missense_variant,p.Met252Ile,ENST00000553118,NM_057170.3;GIT2,missense_variant,p.Met252Ile,ENST00000551209,;GIT2,missense_variant,p.Met252Ile,ENST00000320063,;GIT2,missense_variant,p.Met190Ile,ENST00000550186,;TCHP,intron_variant,,ENST00000550780,;GIT2,non_coding_transcript_exon_variant,,ENST00000551721,;GIT2,non_coding_transcript_exon_variant,,ENST00000551455,;	A	ENST00000355312	Transcript	missense_variant	756/5466	756/2280	252/759	M/I	atG/atT		1		-1	GIT2	HGNC	HGNC:4273	protein_coding	YES	CCDS9138.1	ENSP00000347464	Q14161		UPI000012B4C5	NM_057169.3	tolerated(0.1)		8/20		hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF248																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	109967466	109967466	C	A	1	0	0	0	0	1	0	0	0	6279	594	21	2		2	GIT2	12	109967466	Missense_Mutation	SNP	C	C3N-02089_TP	799502	109967466	23307843	709	29506											
ATXN2	0	.	GRCh38	chr12	111510561	111510561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggagacctgggtctatgaGttttaggggataatcttgga	9	13	15	4	0	2	2	0	1	2	1	2	5	2	4	1	5	0	1	1	5	3	5	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2060C>G	p.Thr687Ser	p.T687S	ENST00000377617	12/25	111	87	24	114	114	0	strelka-varscan-mutect	ATXN2,missense_variant,p.Thr687Ser,ENST00000377617,NM_002973.3;ATXN2,missense_variant,p.Thr687Ser,ENST00000550104,;ATXN2,missense_variant,p.Thr398Ser,ENST00000616825,;ATXN2,missense_variant,p.Thr527Ser,ENST00000608853,;ATXN2,missense_variant,p.Thr422Ser,ENST00000389153,;ATXN2,missense_variant,p.Thr422Ser,ENST00000542287,;ATXN2,missense_variant,p.Thr398Ser,ENST00000535949,;ATXN2,intron_variant,,ENST00000492467,;ATXN2,intron_variant,,ENST00000550236,;ATXN2,downstream_gene_variant,,ENST00000481331,;ATXN2,missense_variant,p.Thr608Ser,ENST00000483311,;ATXN2,non_coding_transcript_exon_variant,,ENST00000546483,;ATXN2,downstream_gene_variant,,ENST00000392645,;	C	ENST00000377617	Transcript	missense_variant	2222/4702	2060/3942	687/1313	T/S	aCt/aGt		1		-1	ATXN2	HGNC	HGNC:10555	protein_coding	YES	CCDS31902.1	ENSP00000366843	Q99700		UPI0000DBEEFC	NM_002973.3	tolerated_low_confidence(0.31)		12/25		hmmpanther:PTHR12854:SF11,hmmpanther:PTHR12854																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	111510561	111510561	G	C	1	0	0	0	0	1	0	0	0	1365	1029	36	4		4	ATXN2	12	111510561	Missense_Mutation	SNP	G	C3N-02089_TP	1543095	111510561	21764748	710	29507											
ALDH2	0	.	GRCh38	chr12	111792775	111792775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatagcaagaccgagcaggGgccgcaggtgagccaggcag	11	3	17	10	2	0	3	0	2	0	1	0	4	0	3	3	4	3	4	3	4	2	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1076G>T	p.Gly359Val	p.G359V	ENST00000261733	9/13	91	67	24	75	75	0	strelka-varscan-mutect	ALDH2,missense_variant,p.Gly359Val,ENST00000261733,NM_000690.3;ALDH2,missense_variant,p.Gly312Val,ENST00000416293,NM_001204889.1;RP11-162P23.2,downstream_gene_variant,,ENST00000546840,;ALDH2,missense_variant,p.Gly56Val,ENST00000549106,;ALDH2,3_prime_UTR_variant,,ENST00000548536,;	T	ENST00000261733	Transcript	missense_variant	1137/9569	1076/1554	359/517	G/V	gGg/gTg		1		1	ALDH2	HGNC	HGNC:404	protein_coding	YES	CCDS9155.1	ENSP00000261733	P05091		UPI0000129293	NM_000690.3	deleterious(0)		9/13		Gene3D:3.40.309.10,Pfam_domain:PF00171,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF211,Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	111792775	111792775	G	T	1	0	0	0	0	1	0	0	0	596	1232	43	2		2	ALDH2	12	111792775	Missense_Mutation	SNP	G	C3N-02089_TP	282214	111792775	21482534	711	29508											
PTPN11	0	.	GRCh38	chr12	112488445	112488445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccttctgcccgcagtgCtggaattggccggacaggga	6	10	14	11	2	1	0	0	0	1	0	2	3	2	3	3	4	2	2	3	4	1	3	rs397509344		C3N-02089_TP	C3N-02089_NB	C	C																c.1382C>G	p.Ala461Gly	p.A461G	ENST00000351677	12/16	526	420	106	389	389	0	strelka-varscan-mutect	PTPN11,missense_variant,p.Ala461Gly,ENST00000351677,NM_002834.3;PTPN11,missense_variant,p.Ala465Gly,ENST00000635625,;PTPN11,missense_variant,p.Ala132Gly,ENST00000635652,;PTPN11,downstream_gene_variant,,ENST00000392597,NM_080601.1;	G	ENST00000351677	Transcript	missense_variant,splice_region_variant	1580/6101	1382/1782	461/593	A/G	gCt/gGt	rs397509344,COSM935282	1		1	PTPN11	HGNC	HGNC:9644	protein_coding	YES	CCDS9163.1	ENSP00000340944	Q06124		UPI000013296E	NM_002834.3	deleterious(0)		12/16		Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF000929,Prints_domain:PR00700,PROSITE_patterns:PS00383,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF150,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799										pathogenic	0,1						MODERATE	1	SNV	1		1,1	1										PASS		rs397509344	.												G	3	3	90	112488445	112488445	C	G	1	0	0	0	0	1	0	0	0	12933	811	28	4		4	PTPN11	12	112488445	Missense_Mutation	SNP	C	C3N-02089_TP	695670	112488445	20786864	712	29509											
RPH3A	0	.	GRCh38	chr12	112847831	112847831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatggaagagatggagcaGgagcgaatcgggtgaggctt	14	6	17	4	2	0	2	0	1	0	1	1	7	0	5	0	5	2	2	0	5	4	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.219G>T	p.Gln73His	p.Q73H	ENST00000389385	5/22	151	124	27	124	124	0	strelka-varscan-mutect	RPH3A,missense_variant,p.Gln73His,ENST00000389385,NM_001143854.1;RPH3A,missense_variant,p.Gln73His,ENST00000415485,;RPH3A,missense_variant,p.Gln69His,ENST00000551052,NM_014954.3;RPH3A,missense_variant,p.Gln73His,ENST00000543106,;RPH3A,missense_variant,p.Gln73His,ENST00000551593,;RPH3A,missense_variant,p.Gln73His,ENST00000547728,;RPH3A,missense_variant,p.Gln6His,ENST00000550901,;RPH3A,missense_variant,p.Gln73His,ENST00000551198,;RPH3A,missense_variant,p.Gln73His,ENST00000552667,;RPH3A,missense_variant,p.Gln73His,ENST00000548197,;RPH3A,missense_variant,p.Gln73His,ENST00000553114,;RPH3A,missense_variant,p.Gln73His,ENST00000546703,;RPH3A,missense_variant,p.Gln73His,ENST00000547840,;RPH3A,missense_variant,p.Gln73His,ENST00000551748,;RPH3A,missense_variant,p.Gln73His,ENST00000549769,;RPH3A,missense_variant,p.Gln73His,ENST00000547686,;RPH3A,intron_variant,,ENST00000548866,;RPH3A,downstream_gene_variant,,ENST00000549736,;RPH3A,non_coding_transcript_exon_variant,,ENST00000552679,;RPH3A,upstream_gene_variant,,ENST00000547222,;RPH3A,3_prime_UTR_variant,,ENST00000547099,;	T	ENST00000389385	Transcript	missense_variant	716/4679	219/2085	73/694	Q/H	caG/caT		1		1	RPH3A	HGNC	HGNC:17056	protein_coding	YES	CCDS44979.1	ENSP00000374036	Q9Y2J0		UPI000013456D	NM_001143854.1	deleterious(0.02)		5/22		PROSITE_profiles:PS50916,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF118,Gene3D:3.30.40.10,Pfam_domain:PF02318,Superfamily_domains:SSF57903																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	112847831	112847831	G	T	1	0	0	0	0	1	0	0	0	13803	991	35	2		2	RPH3A	12	112847831	Missense_Mutation	SNP	G	C3N-02089_TP	359386	112847831	20427478	713	29510											
RPH3A	0	.	GRCh38	chr12	112883342	112883342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatacccggaaccccatctGgaatgagaccctcgtgtatc	11	8	9	13	2	1	1	0	1	1	1	3	5	1	3	4	2	2	1	4	2	5	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1376G>T	p.Trp459Leu	p.W459L	ENST00000389385	16/22	352	274	78	308	308	0	strelka-varscan-mutect	RPH3A,missense_variant,p.Trp459Leu,ENST00000389385,NM_001143854.1;RPH3A,missense_variant,p.Trp459Leu,ENST00000415485,;RPH3A,missense_variant,p.Trp455Leu,ENST00000551052,NM_014954.3;RPH3A,missense_variant,p.Trp459Leu,ENST00000543106,;RPH3A,missense_variant,p.Trp410Leu,ENST00000548866,;RPH3A,non_coding_transcript_exon_variant,,ENST00000549913,;RPH3A,non_coding_transcript_exon_variant,,ENST00000552755,;RPH3A,upstream_gene_variant,,ENST00000546687,;	T	ENST00000389385	Transcript	missense_variant	1873/4679	1376/2085	459/694	W/L	tGg/tTg		1		1	RPH3A	HGNC	HGNC:17056	protein_coding	YES	CCDS44979.1	ENSP00000374036	Q9Y2J0		UPI000013456D	NM_001143854.1	deleterious(0)		16/22		PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF118,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	112883342	112883342	G	T	1	0	0	0	0	1	0	0	0	13803	1357	47	2		2	RPH3A	12	112883342	Missense_Mutation	SNP	G	C3N-02089_TP	35511	112883342	20391967	714	29511											
SLC8B1	0	.	GRCh38	chr12	113310299	113310299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaagccaaggctgtgcCtgcgatcaccaccacgaccc	10	5	9	17	2	1	1	1	1	0	0	1	3	1	1	5	1	3	1	5	1	2	0			C3N-02089_TP	C3N-02089_NB	C	C																c.1192G>A	p.Gly398Ser	p.G398S	ENST00000552014	13/17	249	228	21	178	178	0	strelka-varscan-mutect	SLC8B1,missense_variant,p.Gly398Ser,ENST00000552014,;SLC8B1,missense_variant,p.Gly398Ser,ENST00000202831,NM_024959.2;SLC8B1,missense_variant,p.Gly342Ser,ENST00000546737,;SLC8B1,upstream_gene_variant,,ENST00000550047,;SLC8B1,upstream_gene_variant,,ENST00000549069,;SLC8B1,non_coding_transcript_exon_variant,,ENST00000553238,;SLC8B1,missense_variant,p.Gly268Ser,ENST00000550672,;SLC8B1,non_coding_transcript_exon_variant,,ENST00000552565,;	T	ENST00000552014	Transcript	missense_variant	1708/3289	1192/1755	398/584	G/S	Ggc/Agc	COSM4166057	1		-1	SLC8B1	HGNC	HGNC:26175	protein_coding	YES	CCDS31909.1	ENSP00000447091	Q6J4K2		UPI000004FA44		tolerated(0.07)		13/17		Transmembrane_helices:TMhelix,hmmpanther:PTHR12266,hmmpanther:PTHR12266:SF0											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	90	113310299	113310299	C	T	1	0	0	0	0	1	0	0	0	14992	681	24	3		3	SLC8B1	12	113310299	Missense_Mutation	SNP	C	C3N-02089_TP	426957	113310299	19965010	715	29512											
SDSL	0	.	GRCh38	chr12	113435408	113435408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctggtgctggcagttgggGgtgggggtctcctggccggg	1	9	21	10	1	1	0	0	0	1	0	2	0	1	0	3	8	1	3	3	8	0	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.523G>T	p.Gly175Cys	p.G175C	ENST00000403593	6/8	103	76	27	91	91	0	strelka-varscan-mutect	SDSL,missense_variant,p.Gly175Cys,ENST00000403593,NM_001304993.1;SDSL,missense_variant,p.Gly175Cys,ENST00000345635,NM_138432.3;SDSL,missense_variant,p.Gly71Cys,ENST00000546672,;SDSL,missense_variant,p.Gly117Cys,ENST00000553248,;SDSL,upstream_gene_variant,,ENST00000551760,;	T	ENST00000403593	Transcript	missense_variant	785/1449	523/990	175/329	G/C	Ggt/Tgt		1		1	SDSL	HGNC	HGNC:30404	protein_coding	YES	CCDS9170.1	ENSP00000385790	Q96GA7	A0A024RBL2	UPI0000072263	NM_001304993.1	deleterious(0)		6/8		Low_complexity_(Seg):seg,hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF99,Gene3D:3.40.50.1100,Pfam_domain:PF00291,Superfamily_domains:SSF53686																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	113435408	113435408	G	T	1	0	0	0	0	1	0	0	0	14252	1232	43	2		2	SDSL	12	113435408	Missense_Mutation	SNP	G	C3N-02089_TP	125109	113435408	19839901	716	29513											
TBX3	0	.	GRCh38	chr12	114676341	114676341	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgatgtccctacagtggaGgcggctggagaagaagcctg	9	8	15	9	2	0	2	0	0	0	2	2	5	1	3	2	4	2	1	2	4	3	2	rs745496316		C3N-02089_TP	C3N-02089_NB	G	G																c.1071C>A	p.=	p.A357A	ENST00000257566	6/8	440	349	91	328	327	1	strelka-varscan-mutect	TBX3,synonymous_variant,p.=,ENST00000349155,NM_005996.3;TBX3,synonymous_variant,p.=,ENST00000257566,NM_016569.3;TBX3,downstream_gene_variant,,ENST00000552054,;TBX3,downstream_gene_variant,,ENST00000548503,;	T	ENST00000257566	Transcript	synonymous_variant	1461/4208	1071/2232	357/743	A	gcC/gcA	rs745496316	1		-1	TBX3	HGNC	HGNC:11602	protein_coding	YES	CCDS9176.1	ENSP00000257566	O15119	A0A024RBL6	UPI0000136AA0	NM_016569.3			6/8		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF91,Pfam_domain:PF12598																	LOW	1	SNV	1			1										PASS		rs745496316	.												T	2	4	90	114676341	114676341	G	T	1	0	0	0	0	0	0	0	1	16064	987	35	2		2	TBX3	12	114676341	Silent	SNP	G	C3N-02089_TP	1240933	114676341	18598968	717	29514											
NOS1	0	.	GRCh38	chr12	117220129	117220129	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgagagcttcccctgctgGgtcatgatgcgctggatggc	5	9	15	12	2	1	2	1	1	0	1	2	4	2	3	3	3	3	3	3	3	0	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.4218C>A	p.=	p.T1406T	ENST00000618760	28/30	168	126	42	151	151	0	strelka-varscan-mutect	NOS1,synonymous_variant,p.=,ENST00000618760,NM_001204218.1;NOS1,synonymous_variant,p.=,ENST00000317775,NM_001204214.1,NM_000620.4,NM_001204213.1;NOS1,synonymous_variant,p.=,ENST00000338101,;NOS1,synonymous_variant,p.=,ENST00000344089,;	T	ENST00000618760	Transcript	synonymous_variant	4929/12283	4218/4407	1406/1468	T	acC/acA		1		-1	NOS1	HGNC	HGNC:7872	protein_coding	YES	CCDS55890.1	ENSP00000477999	P29475		UPI00001FBC10	NM_001204218.1			28/30		hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF63,Gene3D:3.40.50.80,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF52343																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	90	117220129	117220129	G	T	1	0	0	0	0	0	0	0	1	10586	1219	43	2		2	NOS1	12	117220129	Silent	SNP	G	C3N-02089_TP	2543788	117220129	16055180	718	29515											
HNF1A	0	.	GRCh38	chr12	120988927	120988927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgataccactggcctcaacCagtcccacctgtcccaacac	10	7	5	19	1	1	0	1	0	0	0	4	1	3	0	6	1	3	0	6	1	3	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.421C>A	p.Gln141Lys	p.Q141K	ENST00000544413	2/10	702	557	145	501	500	1	strelka-varscan-mutect	HNF1A,missense_variant,p.Gln141Lys,ENST00000257555,NM_000545.5;HNF1A,missense_variant,p.Gln141Lys,ENST00000541395,;HNF1A,missense_variant,p.Gln141Lys,ENST00000543427,;HNF1A,missense_variant,p.Gln141Lys,ENST00000617366,;HNF1A,missense_variant,p.Gln141Lys,ENST00000400024,;HNF1A,missense_variant,p.Gln141Lys,ENST00000544413,NM_001306179.1;HNF1A,intron_variant,,ENST00000615446,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000535955,;HNF1A,missense_variant,p.Gln189Lys,ENST00000560968,;HNF1A,missense_variant,p.Gln141Lys,ENST00000538646,;HNF1A,missense_variant,p.Gln141Lys,ENST00000541924,;HNF1A,non_coding_transcript_exon_variant,,ENST00000402929,;HNF1A,intron_variant,,ENST00000540108,;HNF1A,intron_variant,,ENST00000544574,;	A	ENST00000544413	Transcript	missense_variant	441/2014	421/1917	141/638	Q/K	Cag/Aag		1		1	HNF1A	HGNC	HGNC:11621	protein_coding	YES	CCDS76611.1	ENSP00000438804		F5H0K0	UPI000204ABCC	NM_001306179.1	deleterious(0)		2/10		Gene3D:1.10.260.40,Pfam_domain:PF04814,hmmpanther:PTHR11568,hmmpanther:PTHR11568:SF4,Superfamily_domains:SSF47413																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	120988927	120988927	C	A	1	0	0	0	0	1	0	0	0	7142	595	21	2		2	HNF1A	12	120988927	Missense_Mutation	SNP	C	C3N-02089_TP	3768798	120988927	12286382	719	29516											
KNTC1	0	.	GRCh38	chr12	122549797	122549797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggtttattcattacctaCaatggaaatactatattctt	13	17	4	7	0	2	0	1	0	1	0	2	1	2	1	1	2	3	1	1	2	8	10	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1019C>A	p.Thr340Lys	p.T340K	ENST00000333479	13/64	153	138	15	171	171	0	strelka-varscan-mutect	KNTC1,missense_variant,p.Thr340Lys,ENST00000333479,NM_014708.4;KNTC1,missense_variant,p.Thr303Lys,ENST00000450485,;	A	ENST00000333479	Transcript	missense_variant	1196/6975	1019/6630	340/2209	T/K	aCa/aAa		1		1	KNTC1	HGNC	HGNC:17255	protein_coding	YES	CCDS45002.1	ENSP00000328236	P50748		UPI0000047FD6	NM_014708.4	deleterious(0.01)		13/64		hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	122549797	122549797	C	A	1	0	0	0	0	1	0	0	0	8308	478	17	2		2	KNTC1	12	122549797	Missense_Mutation	SNP	C	C3N-02089_TP	1560870	122549797	10725512	720	29517											
KNTC1	0	.	GRCh38	chr12	122597738	122597738	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcttcttttagcacatttCagttggactgcgatgcagtt	8	16	9	8	1	2	0	1	0	1	0	2	2	2	1	0	1	4	5	0	1	1	6	rs73407858		C3N-02089_TP	C3N-02089_NB	C	C																c.4363C>T	p.Gln1455Ter	p.Q1455*	ENST00000333479	44/64	245	224	21	230	230	0	strelka-varscan-mutect	KNTC1,stop_gained,p.Gln1455Ter,ENST00000333479,NM_014708.4;KNTC1,stop_gained,p.Gln14Ter,ENST00000423927,;KNTC1,intron_variant,,ENST00000450485,;KNTC1,upstream_gene_variant,,ENST00000436959,;KNTC1,non_coding_transcript_exon_variant,,ENST00000545065,;KNTC1,intron_variant,,ENST00000535186,;KNTC1,non_coding_transcript_exon_variant,,ENST00000377192,;	T	ENST00000333479	Transcript	stop_gained	4540/6975	4363/6630	1455/2209	Q/*	Cag/Tag	rs73407858	1		1	KNTC1	HGNC	HGNC:17255	protein_coding	YES	CCDS45002.1	ENSP00000328236	P50748		UPI0000047FD6	NM_014708.4			44/64		hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688																	HIGH	1	SNV	1			1										PASS		rs73407858	.												T	4	4	90	122597738	122597738	C	T	1	0	0	0	0	0	1	0	0	8308	827	29	3		3	KNTC1	12	122597738	Nonsense_Mutation	SNP	C	C3N-02089_TP	47941	122597738	10677571	721	29518											
ATP6V0A2	0	.	GRCh38	chr12	123722375	123722375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtacaggaaattaataGagctgatattccccttcctg	11	14	8	8	0	0	2	0	1	0	1	2	3	2	3	3	2	2	2	3	2	5	7			C3N-02089_TP	C3N-02089_NB	G	G																c.221G>T	p.Arg74Ile	p.R74I	ENST00000330342	3/20	342	266	76	278	278	0	strelka-varscan-mutect	ATP6V0A2,missense_variant,p.Arg74Ile,ENST00000330342,NM_012463.3;ATP6V0A2,missense_variant,p.Arg74Ile,ENST00000613625,;ATP6V0A2,upstream_gene_variant,,ENST00000504192,;ATP6V0A2,non_coding_transcript_exon_variant,,ENST00000540368,;RPL27P12,upstream_gene_variant,,ENST00000472241,;	T	ENST00000330342	Transcript	missense_variant	469/6542	221/2571	74/856	R/I	aGa/aTa	COSM1677456	1		1	ATP6V0A2	HGNC	HGNC:18481	protein_coding	YES	CCDS9254.1	ENSP00000332247	Q9Y487		UPI00001AFC09	NM_012463.3	deleterious(0)		3/20		hmmpanther:PTHR11629:SF22,hmmpanther:PTHR11629,Pfam_domain:PF01496,PIRSF_domain:PIRSF001293											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	90	123722375	123722375	G	T	1	0	0	0	0	1	0	0	0	1322	942	33	2		2	ATP6V0A2	12	123722375	Missense_Mutation	SNP	G	C3N-02089_TP	1124637	123722375	9552934	722	29519											
DNAH10	0	.	GRCh38	chr12	123808951	123808951	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattgcgtggagatcaccAaggtgagagcggaggtgctt	10	8	17	6	2	1	2	1	1	0	2	1	6	1	4	1	5	3	1	1	5	2	2	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.2788A>C	p.Lys930Gln	p.K930Q	ENST00000638045	18/78	135	100	35	129	129	0	strelka-varscan-mutect	DNAH10,missense_variant,p.Lys991Gln,ENST00000409039,;DNAH10,missense_variant,p.Lys930Gln,ENST00000638045,NM_207437.3;DNAH10,missense_variant,p.Lys805Gln,ENST00000614082,;DNAH10,splice_region_variant,,ENST00000467219,;DNAH10,splice_region_variant,,ENST00000447853,;	C	ENST00000638045	Transcript	missense_variant,splice_region_variant	2813/13678	2788/13416	930/4471	K/Q	Aag/Cag		1		1	DNAH10	HGNC	HGNC:2941	protein_coding	YES	CCDS9255.2	ENSP00000489675			UPI00014F7B89	NM_207437.3	deleterious(0.04)		18/78		hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	90	123808951	123808951	A	C	1	0	0	0	0	1	0	0	0	4411	144	5	5		5	DNAH10	12	123808951	Missense_Mutation	SNP	A	C3N-02089_TP	86576	123808951	9466358	723	29520											
DNAH10	0	.	GRCh38	chr12	123820706	123820706	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagctgctgaaagtgcAgaaggaaatgagtgggctga	13	6	15	7	0	0	5	0	3	0	2	0	6	0	6	1	2	3	4	1	2	3	0	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.3773A>G	p.Gln1258Arg	p.Q1258R	ENST00000638045	23/78	267	204	63	212	212	0	strelka-varscan-mutect	DNAH10,missense_variant,p.Gln1319Arg,ENST00000409039,;DNAH10,missense_variant,p.Gln1258Arg,ENST00000638045,NM_207437.3;	G	ENST00000638045	Transcript	missense_variant	3798/13678	3773/13416	1258/4471	Q/R	cAg/cGg		1		1	DNAH10	HGNC	HGNC:2941	protein_coding	YES	CCDS9255.2	ENSP00000489675			UPI00014F7B89	NM_207437.3	tolerated(0.08)		23/78		hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF08393																	MODERATE	1	SNV				1										PASS		rs1468527398	.												G	3	3	90	123820706	123820706	A	G	1	0	0	0	0	1	0	0	0	4411	188	7	5		5	DNAH10	12	123820706	Missense_Mutation	SNP	A	C3N-02089_TP	11755	123820706	9454603	724	29521											
DNAH10	0	.	GRCh38	chr12	123879281	123879281	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattccagacggtggcccAgatggtgagagtctggagga	10	7	16	8	1	1	4	0	1	1	4	2	7	2	6	2	5	0	0	2	5	0	1	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.8036A>T	p.Gln2679Leu	p.Q2679L	ENST00000638045	48/78	185	162	23	176	176	0	strelka-varscan-mutect	DNAH10,missense_variant,p.Gln2740Leu,ENST00000409039,;DNAH10,missense_variant,p.Gln2679Leu,ENST00000638045,NM_207437.3;DNAH10,3_prime_UTR_variant,,ENST00000497783,;	T	ENST00000638045	Transcript	missense_variant	8061/13678	8036/13416	2679/4471	Q/L	cAg/cTg		1		1	DNAH10	HGNC	HGNC:2941	protein_coding	YES	CCDS9255.2	ENSP00000489675			UPI00014F7B89	NM_207437.3	deleterious(0.01)		48/78		hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF12775,Superfamily_domains:SSF52540																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	90	123879281	123879281	A	T	1	0	0	0	0	1	0	0	0	4411	188	7	4		4	DNAH10	12	123879281	Missense_Mutation	SNP	A	C3N-02089_TP	58575	123879281	9396028	725	29522											
DNAH10	0	.	GRCh38	chr12	123917694	123917694	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaccagcgagaacaagAacctgctcaaggacctggaa	16	3	12	10	1	1	3	1	0	0	3	1	7	1	5	3	3	4	1	3	3	5	0	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.10759A>T	p.Asn3587Tyr	p.N3587Y	ENST00000638045	63/78	490	444	46	368	368	0	strelka-varscan-mutect	DNAH10,missense_variant,p.Asn3648Tyr,ENST00000409039,;DNAH10,missense_variant,p.Asn3587Tyr,ENST00000638045,NM_207437.3;DNAH10,downstream_gene_variant,,ENST00000540041,;CCDC92,downstream_gene_variant,,ENST00000542348,;	T	ENST00000638045	Transcript	missense_variant	10784/13678	10759/13416	3587/4471	N/Y	Aac/Tac		1		1	DNAH10	HGNC	HGNC:2941	protein_coding	YES	CCDS9255.2	ENSP00000489675			UPI00014F7B89	NM_207437.3	deleterious(0.02)		63/78		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF12781																	MODERATE	1	SNV				1										PASS		rs1449477024	.												T	3	4	90	123917694	123917694	A	T	1	0	0	0	0	1	0	0	0	4411	246	9	4		4	DNAH10	12	123917694	Missense_Mutation	SNP	A	C3N-02089_TP	38413	123917694	9357615	726	29523											
AACS	0	.	GRCh38	chr12	125136829	125136829	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcttgtctgcgcgacacGtgcccagcctcatcctggaa	6	9	12	14	3	2	0	1	0	1	0	3	2	3	1	3	2	3	1	3	2	1	1	rs546586609		C3N-02089_TP	C3N-02089_NB	G	G																c.1846G>C	p.Val616Leu	p.V616L	ENST00000316519	17/18	306	288	18	219	219	0	strelka-varscan-mutect	AACS,missense_variant,p.Val616Leu,ENST00000316519,NM_023928.3;AACS,non_coding_transcript_exon_variant,,ENST00000316543,;RP11-158L12.4,upstream_gene_variant,,ENST00000623804,;AACS,downstream_gene_variant,,ENST00000398953,;AACS,non_coding_transcript_exon_variant,,ENST00000539251,;AACS,intron_variant,,ENST00000545511,;AACS,intron_variant,,ENST00000543665,;AACS,downstream_gene_variant,,ENST00000536118,;AACS,downstream_gene_variant,,ENST00000538851,;	C	ENST00000316519	Transcript	missense_variant	2052/3316	1846/2019	616/672	V/L	Gtg/Ctg	rs546586609	1		1	AACS	HGNC	HGNC:21298	protein_coding	YES	CCDS9263.1	ENSP00000324842	Q86V21	A0A024RBV2	UPI0000049787	NM_023928.3	deleterious(0.01)		17/18		hmmpanther:PTHR24095:SF183,hmmpanther:PTHR24095,TIGRFAM_domain:TIGR01217,Gene3D:3.30.300.30,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		rs546586609	.												C	3	2	90	125136829	125136829	G	C	1	0	0	0	0	1	0	0	0	9	1145	40	4		4	AACS	12	125136829	Missense_Mutation	SNP	G	C3N-02089_TP	1219135	125136829	8138480	727	29524											
TMEM132B	0	.	GRCh38	chr12	125652520	125652520	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtcaccatcgcggagcTgggagtgcagctcgtagctg	7	7	15	12	4	1	0	1	0	0	0	3	3	1	2	2	2	4	5	2	2	1	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1979T>A	p.Leu660Gln	p.L660Q	ENST00000299308	8/9	152	118	34	129	129	0	strelka-varscan-mutect	TMEM132B,missense_variant,p.Leu660Gln,ENST00000299308,NM_052907.3;TMEM132B,missense_variant,p.Leu172Gln,ENST00000613307,NM_001286219.1;TMEM132B,non_coding_transcript_exon_variant,,ENST00000535886,;	A	ENST00000299308	Transcript	missense_variant	1987/10906	1979/3237	660/1078	L/Q	cTg/cAg		1		1	TMEM132B	HGNC	HGNC:29397	protein_coding	YES	CCDS41859.1	ENSP00000299308	Q14DG7		UPI00006BFF58	NM_052907.3	deleterious(0)		8/9		hmmpanther:PTHR13388:SF12,hmmpanther:PTHR13388,Pfam_domain:PF16070																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	125652520	125652520	T	A	1	0	0	0	0	1	0	0	0	16490	1580	55	4		4	TMEM132B	12	125652520	Missense_Mutation	SNP	T	C3N-02089_TP	515691	125652520	7622789	728	29525											
PUS1	0	.	GRCh38	chr12	131932302	131932302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccttccagcgctgcgcccGgacagacaaggtgggtggtg	6	7	16	12	3	0	1	0	0	0	1	2	2	2	2	3	4	2	1	3	4	1	1	rs762199189		C3N-02089_TP	C3N-02089_NB	G	G																c.431G>T	p.Arg144Leu	p.R144L	ENST00000376649	3/6	294	214	80	294	294	0	strelka-varscan-mutect	PUS1,missense_variant,p.Arg144Leu,ENST00000376649,NM_025215.5;PUS1,missense_variant,p.Arg91Leu,ENST00000542167,;PUS1,missense_variant,p.Arg116Leu,ENST00000443358,NM_001002020.2,NM_001002019.2;PUS1,missense_variant,p.Arg116Leu,ENST00000322060,;PUS1,missense_variant,p.Arg116Leu,ENST00000535067,;PUS1,missense_variant,p.Arg144Leu,ENST00000544213,;PUS1,missense_variant,p.Arg116Leu,ENST00000537484,;PUS1,missense_variant,p.Arg116Leu,ENST00000538037,;PUS1,missense_variant,p.Arg116Leu,ENST00000456665,;RP11-417L19.4,upstream_gene_variant,,ENST00000539078,;RP11-417L19.6,upstream_gene_variant,,ENST00000621809,;PUS1,non_coding_transcript_exon_variant,,ENST00000544662,;	T	ENST00000376649	Transcript	missense_variant	931/4094	431/1284	144/427	R/L	cGg/cTg	rs762199189,COSM937127	1		1	PUS1	HGNC	HGNC:15508	protein_coding	YES	CCDS9275.2	ENSP00000365837	Q9Y606	E5KMT5	UPI000006FC81	NM_025215.5	deleterious(0)		3/6		hmmpanther:PTHR11142:SF4,hmmpanther:PTHR11142,TIGRFAM_domain:TIGR00071,Gene3D:1dj0A02,Superfamily_domains:SSF55120											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs762199189	.												T	3	4	90	131932302	131932302	G	T	1	0	0	0	0	1	0	0	0	12988	1116	39	1		1	PUS1	12	131932302	Missense_Mutation	SNP	G	C3N-02089_TP	6279782	131932302	1343007	729	29526											
LATS2	0	.	GRCh38	chr13	20979797	20979797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcacagagttgagtgtacCctgcaagacaaagttcactc	13	9	9	10	0	2	3	2	1	0	2	3	3	2	3	1	0	2	4	1	0	3	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2666G>T	p.Gly889Val	p.G889V	ENST00000382592	7/8	107	90	17	94	94	0	strelka-varscan-mutect	LATS2,missense_variant,p.Gly889Val,ENST00000382592,NM_014572.2;	A	ENST00000382592	Transcript	missense_variant,splice_region_variant	3072/5511	2666/3267	889/1088	G/V	gGg/gTg		1		-1	LATS2	HGNC	HGNC:6515	protein_coding	YES	CCDS9294.1	ENSP00000372035	Q9NRM7	A0A024RDM3	UPI000013DBF5	NM_014572.2	deleterious(0)		7/8		PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF149,hmmpanther:PTHR24356,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	20979797	20979797	C	A	1	0	0	0	0	1	0	0	0	8552	637	22	2		2	LATS2	13	20979797	Missense_Mutation	SNP	C	C3N-02089_TP		20979797	93384531	730	29527											
AMER2	0	.	GRCh38	chr13	25171235	25171235	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccgccgcccccgccgcTgtcgcccccgccgcgcggct	0	3	11	27	9	0	0	0	0	0	0	1	0	0	0	10	1	0	2	10	1	0	0	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.385A>T	p.Ser129Cys	p.S129C	ENST00000515384	1/1	52	32	20	48	48	0	strelka-varscan-mutect	AMER2,missense_variant,p.Ser129Cys,ENST00000357816,NM_199138.2;AMER2,missense_variant,p.Ser129Cys,ENST00000515384,NM_152704.3;LINC00463,downstream_gene_variant,,ENST00000413501,;	A	ENST00000515384	Transcript	missense_variant	1053/3197	385/2016	129/671	S/C	Agc/Tgc		1		-1	AMER2	HGNC	HGNC:26360	protein_coding	YES	CCDS53859.1	ENSP00000426528	Q8N7J2		UPI0000231C76	NM_152704.3	tolerated(0.08)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR22237:SF1,hmmpanther:PTHR22237,Pfam_domain:PF09422																	MODERATE		SNV				1										PASS		.	.												A	3	1	90	25171235	25171235	T	A	1	0	0	0	0	1	0	0	0	668	1580	55	4		4	AMER2	13	25171235	Missense_Mutation	SNP	T	C3N-02089_TP	4191438	25171235	89193093	731	29528											
HSPH1	0	.	GRCh38	chr13	31137421	31137421	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtcttctaaatcttctTcctttttatcaatatttggg	7	23	4	7	0	5	0	1	0	4	0	6	0	6	0	1	1	0	0	1	1	5	11	rs763383146		C3N-02089_TP	C3N-02089_NB	T	T																c.2480A>C	p.Glu827Ala	p.E827A	ENST00000630972	18/18	232	200	32	200	200	0	strelka-varscan-mutect	HSPH1,missense_variant,p.Glu825Ala,ENST00000320027,NM_006644.3;HSPH1,missense_variant,p.Glu749Ala,ENST00000445273,NM_001286505.1;HSPH1,missense_variant,p.Glu827Ala,ENST00000630972,NM_001286504.1;HSPH1,missense_variant,p.Glu781Ala,ENST00000380405,NM_001286503.1;HSPH1,missense_variant,p.Glu89Ala,ENST00000435381,;HSPH1,3_prime_UTR_variant,,ENST00000602786,;HSPH1,non_coding_transcript_exon_variant,,ENST00000626866,;HSPH1,downstream_gene_variant,,ENST00000469538,;	G	ENST00000630972	Transcript	missense_variant	2774/3570	2480/2583	827/860	E/A	gAa/gCa	rs763383146	1		-1	HSPH1	HGNC	HGNC:16969	protein_coding	YES	CCDS66526.1	ENSP00000487365	Q92598		UPI00001FCBB0	NM_001286504.1	tolerated(0.44)		18/18																			MODERATE	1	SNV	1			1										PASS		rs763383146	.												G	3	3	90	31137421	31137421	T	G	1	0	0	0	0	1	0	0	0	7327	1783	62	5		5	HSPH1	13	31137421	Missense_Mutation	SNP	T	C3N-02089_TP	5966186	31137421	83226907	732	29529											
FRY	0	.	GRCh38	chr13	32186285	32186285	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccgaagatttctcttcccCcagcaaagtctgaggcacca	11	8	7	15	1	2	2	0	1	2	1	4	3	3	2	4	1	1	2	4	1	2	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.3345C>A	p.=	p.P1115P	ENST00000542859	27/61	291	254	37	326	326	0	strelka-varscan-mutect	FRY,synonymous_variant,p.=,ENST00000542859,NM_023037.2;FRY,synonymous_variant,p.=,ENST00000380250,;	A	ENST00000542859	Transcript	synonymous_variant	3841/13200	3345/9042	1115/3013	P	ccC/ccA		1		1	FRY	HGNC	HGNC:20367	protein_coding	YES	CCDS41875.1	ENSP00000445043	Q5TBA9		UPI000046FD40	NM_023037.2			27/61		hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	90	32186285	32186285	C	A	1	0	0	0	0	0	0	0	1	5935	610	22	2		2	FRY	13	32186285	Silent	SNP	C	C3N-02089_TP	1048864	32186285	82178043	733	29530											
FREM2	0	.	GRCh38	chr13	38690733	38690733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctgagaaatcaagagcagGgattgccataagtgctttca	13	10	10	8	0	3	2	2	1	1	2	3	4	3	3	1	1	3	2	1	1	3	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.3389G>T	p.Gly1130Val	p.G1130V	ENST00000280481	1/24	154	126	28	216	216	0	strelka-varscan-mutect	FREM2,missense_variant,p.Gly1130Val,ENST00000280481,NM_207361.5;	T	ENST00000280481	Transcript	missense_variant	3605/16070	3389/9510	1130/3169	G/V	gGg/gTg		1		1	FREM2	HGNC	HGNC:25396	protein_coding	YES	CCDS31960.1	ENSP00000280481	Q5SZK8		UPI000443805C	NM_207361.5	deleterious(0)		1/24		hmmpanther:PTHR11878:SF32,hmmpanther:PTHR11878,Pfam_domain:PF16184																	MODERATE	1	SNV	2			1										PASS		rs1453406056	.												T	3	4	90	38690733	38690733	G	T	1	0	0	0	0	1	0	0	0	5912	1232	43	2		2	FREM2	13	38690733	Missense_Mutation	SNP	G	C3N-02089_TP	6504448	38690733	75673595	734	29531											
ENOX1	0	.	GRCh38	chr13	43361426	43361426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcatcatgttgaggcttgGatcaaagcctgggacacaga	12	9	12	8	0	3	2	3	1	0	1	3	4	3	4	1	3	1	2	1	3	1	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.235C>A	p.Pro79Thr	p.P79T	ENST00000261488	6/17	171	146	25	261	260	1	strelka-varscan-mutect	ENOX1,missense_variant,p.Pro79Thr,ENST00000261488,NM_001242863.1,NM_017993.3,NM_001127615.1;ENOX1,upstream_gene_variant,,ENST00000482207,;	T	ENST00000261488	Transcript	missense_variant	813/2982	235/1932	79/643	P/T	Cca/Aca		1		-1	ENOX1	HGNC	HGNC:25474	protein_coding	YES	CCDS9389.1	ENSP00000261488	Q8TC92	A0A024RDT8	UPI0000071D6F	NM_001242863.1,NM_017993.3,NM_001127615.1	deleterious(0)		6/17		hmmpanther:PTHR16001,hmmpanther:PTHR16001:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	43361426	43361426	G	T	1	0	0	0	0	1	0	0	0	4971	1174	41	2		2	ENOX1	13	43361426	Missense_Mutation	SNP	G	C3N-02089_TP	4670693	43361426	71002902	735	29532											
KCTD4	0	.	GRCh38	chr13	45194078	45194078	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agactttatttttgatatgaAatcaggagcattacagaaga	16	13	8	4	0	1	5	1	2	0	3	1	6	1	6	0	1	2	1	0	1	5	6	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.490T>G	p.Phe164Val	p.F164V	ENST00000379108	1/1	171	146	25	274	273	1	strelka-varscan-mutect	KCTD4,missense_variant,p.Phe164Val,ENST00000379108,NM_198404.2;GTF2F2,intron_variant,,ENST00000340473,NM_004128.2;	C	ENST00000379108	Transcript	missense_variant	640/1865	490/780	164/259	F/V	Ttc/Gtc		1		-1	KCTD4	HGNC	HGNC:23227	protein_coding	YES	CCDS9396.1	ENSP00000368402	Q8WVF5		UPI000013F484	NM_198404.2	tolerated(0.08)		1/1		hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF9																	MODERATE		SNV				1										PASS		.	.												C	3	2	90	45194078	45194078	A	C	1	0	0	0	0	1	0	0	0	8028	14	1	5		5	KCTD4	13	45194078	Missense_Mutation	SNP	A	C3N-02089_TP	1832652	45194078	69170250	736	29533											
SPERT	0	.	GRCh38	chr13	45713969	45713969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggagcccaaagggcctcCggcccggcaggaggactcca	9	2	15	15	3	0	0	0	0	0	0	2	4	2	3	5	6	1	1	5	6	1	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.944C>A	p.Pro315Gln	p.P315Q	ENST00000310521	3/3	52	46	6	63	62	1	strelka-varscan-mutect	SPERT,missense_variant,p.Pro279Gln,ENST00000378966,;SPERT,missense_variant,p.Pro315Gln,ENST00000310521,NM_152719.2;SPERT,missense_variant,p.Pro279Gln,ENST00000610924,NM_001286342.1;SPERT,downstream_gene_variant,,ENST00000533564,;	A	ENST00000310521	Transcript	missense_variant	1024/1613	944/1347	315/448	P/Q	cCg/cAg		1		1	SPERT	HGNC	HGNC:30720	protein_coding	YES	CCDS9399.1	ENSP00000309189	Q8NA61	A0A140VJV5	UPI0000070F5F	NM_152719.2	tolerated(0.36)		3/3		hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF13																	MODERATE	1	SNV	2			1										PASS		rs1181057262	.												A	3	1	90	45713969	45713969	C	A	1	0	0	0	0	1	0	0	0	15390	652	23	1		1	SPERT	13	45713969	Missense_Mutation	SNP	C	C3N-02089_TP	519891	45713969	68650359	737	29534											
LECT1	0	.	GRCh38	chr13	52708616	52708616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attattcagtcttccagcgcCtgggttgctccgtggtccac	5	13	10	13	2	2	0	1	0	1	0	5	0	5	0	4	2	2	2	4	2	1	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.709G>A	p.Gly237Ser	p.G237S	ENST00000377962	6/7	121	99	22	168	168	0	strelka-varscan-mutect	LECT1,missense_variant,p.Gly237Ser,ENST00000448904,NM_001011705.1;LECT1,missense_variant,p.Gly237Ser,ENST00000377962,NM_007015.2;LECT1,downstream_gene_variant,,ENST00000431550,;	T	ENST00000377962	Transcript	missense_variant	788/1410	709/1005	237/334	G/S	Ggc/Agc		1		-1	LECT1	HGNC	HGNC:17005	protein_coding	YES	CCDS9437.1	ENSP00000367198	O75829		UPI000003F666	NM_007015.2	tolerated(0.68)		6/7		hmmpanther:PTHR14064:SF6,hmmpanther:PTHR14064																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	52708616	52708616	C	T	1	0	0	0	0	1	0	0	0	8620	681	24	3		3	LECT1	13	52708616	Missense_Mutation	SNP	C	C3N-02089_TP	6994647	52708616	61655712	738	29535											
KLHL1	0	.	GRCh38	chr13	70107275	70107275	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagctcttgcagaaccagcCctttttcgtgtggtccagga	7	12	11	11	1	1	2	0	1	1	1	3	3	2	3	3	2	4	2	3	2	1	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.425G>T	p.Gly142Val	p.G142V	ENST00000377844	1/11	108	66	42	155	155	0	strelka-varscan-mutect	KLHL1,missense_variant,p.Gly142Val,ENST00000377844,NM_020866.2;KLHL1,missense_variant,p.Gly142Val,ENST00000545028,NM_001286725.1;ATXN8OS,non_coding_transcript_exon_variant,,ENST00000414504,;ATXN8OS,upstream_gene_variant,,ENST00000424524,;	A	ENST00000377844	Transcript	missense_variant	1185/4115	425/2247	142/748	G/V	gGg/gTg		1		-1	KLHL1	HGNC	HGNC:6352	protein_coding	YES	CCDS9445.1	ENSP00000367075	Q9NR64		UPI000004B136	NM_020866.2	tolerated_low_confidence(0.22)		1/11																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	70107275	70107275	C	A	1	0	0	0	0	1	0	0	0	8229	623	22	2		2	KLHL1	13	70107275	Missense_Mutation	SNP	C	C3N-02089_TP	17398659	70107275	44257053	739	29536											
SPRY2	0	.	GRCh38	chr13	80337380	80337380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaccgtgcttatggatCtggacagaggggctcgtgca	8	9	15	9	2	1	2	0	1	1	1	2	4	1	4	1	4	3	4	1	4	1	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.326G>T	p.Arg109Ile	p.R109I	ENST00000377102	2/2	306	225	81	221	221	0	strelka-varscan-mutect	SPRY2,missense_variant,p.Arg109Ile,ENST00000377102,NM_001318537.1;SPRY2,missense_variant,p.Arg109Ile,ENST00000377104,NM_005842.2;	A	ENST00000377102	Transcript	missense_variant	1304/2708	326/948	109/315	R/I	aGa/aTa		1		-1	SPRY2	HGNC	HGNC:11270	protein_coding	YES	CCDS9463.1	ENSP00000366306	O43597		UPI0000001301	NM_001318537.1	tolerated(0.09)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR12365,hmmpanther:PTHR12365:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	80337380	80337380	C	A	1	0	0	0	0	1	0	0	0	15462	913	32	2		2	SPRY2	13	80337380	Missense_Mutation	SNP	C	C3N-02089_TP	10230105	80337380	34026948	740	29537											
ABCC4	0	.	GRCh38	chr13	95209574	95209574	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcagtggtcctgcccaCaggaagtgtaagaacactgt	10	8	12	11	0	0	1	0	0	0	1	1	2	1	2	3	2	3	2	3	2	3	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.645G>T	p.=	p.L215L	ENST00000376887	6/31	84	71	13	85	85	0	strelka-varscan-mutect	ABCC4,synonymous_variant,p.=,ENST00000376887,NM_005845.4,NM_001301829.1;ABCC4,synonymous_variant,p.=,ENST00000629385,NM_001105515.2;ABCC4,synonymous_variant,p.=,ENST00000536256,NM_001301830.1;	A	ENST00000376887	Transcript	synonymous_variant	760/5839	645/3978	215/1325	L	ctG/ctT		1		-1	ABCC4	HGNC	HGNC:55	protein_coding	YES	CCDS9474.1	ENSP00000366084	O15439		UPI00001A36E6	NM_005845.4,NM_001301829.1			6/31		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF237,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	95209574	95209574	C	A	1	0	0	0	0	0	0	0	1	59	465	17	2		2	ABCC4	13	95209574	Silent	SNP	C	C3N-02089_TP	14872194	95209574	19154754	741	29538											
DOCK9	0	.	GRCh38	chr13	98883818	98883818	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaggagcacatacctgagTatacactgtagaaaccagat	16	8	9	8	0	0	4	0	2	0	2	0	5	0	5	2	1	4	3	2	1	6	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.2464A>T	p.Thr822Ser	p.T822S	ENST00000376460	22/57	68	63	5	113	113	0	strelka-varscan-mutect	DOCK9,missense_variant,p.Thr834Ser,ENST00000448493,;DOCK9,missense_variant,p.Thr822Ser,ENST00000442173,;DOCK9,missense_variant,p.Thr822Ser,ENST00000376460,NM_001130048.1,NM_015296.2;DOCK9,missense_variant,p.Thr823Ser,ENST00000427887,NM_001130049.1;DOCK9,missense_variant,p.Thr822Ser,ENST00000627024,NM_001130050.1;DOCK9,missense_variant,p.Thr834Ser,ENST00000339416,;DOCK9,3_prime_UTR_variant,,ENST00000630992,;DOCK9,downstream_gene_variant,,ENST00000473165,;	A	ENST00000376460	Transcript	missense_variant	2545/7549	2464/6207	822/2068	T/S	Act/Tct		1		-1	DOCK9	HGNC	HGNC:14132	protein_coding	YES	CCDS45062.1	ENSP00000365643	Q9BZ29		UPI000046FD7F	NM_001130048.1,NM_015296.2	deleterious(0.02)		22/57		Pfam_domain:PF14429,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF77																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	98883818	98883818	T	A	1	0	0	0	0	1	0	0	0	4509	1652	57	4		4	DOCK9	13	98883818	Missense_Mutation	SNP	T	C3N-02089_TP	3674244	98883818	15480510	742	29539											
CCDC168	0	.	GRCh38	chr13	102745515	102745515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttctacgtttcggacCagcaccagccctgatattga	8	14	7	12	2	2	2	0	2	2	0	3	3	2	3	3	1	3	2	3	1	2	7	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.5182G>T	p.Gly1728Cys	p.G1728C	ENST00000322527	4/4	108	89	19	133	133	0	strelka-varscan-mutect	CCDC168,missense_variant,p.Gly1728Cys,ENST00000322527,NM_001146197.1;LINC00283,downstream_gene_variant,,ENST00000430111,;	A	ENST00000322527	Transcript	missense_variant	5320/21466	5182/21246	1728/7081	G/C	Ggt/Tgt		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	deleterious(0.03)		4/4		Pfam_domain:PF15804																	MODERATE	1	SNV	3			1										PASS		rs978110007	.												A	3	1	90	102745515	102745515	C	A	1	0	0	0	0	1	0	0	0	2484	594	21	2		2	CCDC168	13	102745515	Missense_Mutation	SNP	C	C3N-02089_TP	3861697	102745515	11618813	743	29540											
ERCC5	0	.	GRCh38	chr13	102853811	102853811	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactccaggaaaacgacaGagaagcttctgaaaacattt	16	8	9	8	1	1	3	0	2	1	1	2	6	2	4	1	1	3	1	1	1	5	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.319G>T	p.Glu107Ter	p.E107*	ENST00000355739	3/15	179	163	16	193	192	1	strelka-varscan-mutect	ERCC5,stop_gained,p.Glu107Ter,ENST00000355739,NM_000123.3;BIVM-ERCC5,stop_gained,p.Glu533Ter,ENST00000602836,NM_001204425.1;ERCC5,stop_gained,p.Glu107Ter,ENST00000535557,;ERCC5,3_prime_UTR_variant,,ENST00000472151,;ERCC5,non_coding_transcript_exon_variant,,ENST00000375958,;	T	ENST00000355739	Transcript	stop_gained	1742/5082	319/3561	107/1186	E/*	Gag/Tag		1		1	ERCC5	HGNC	HGNC:3437	protein_coding	YES	CCDS32004.1	ENSP00000347978	P28715		UPI000006D0C3	NM_000123.3			3/15		Gene3D:3.40.50.1010,Prints_domain:PR00066,hmmpanther:PTHR16171,hmmpanther:PTHR16171:SF3,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00600																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	90	102853811	102853811	G	T	1	0	0	0	0	0	1	0	0	5065	943	33	2		2	ERCC5	13	102853811	Nonsense_Mutation	SNP	G	C3N-02089_TP	108296	102853811	11510517	744	29541											
MYO16	0	.	GRCh38	chr13	109052334	109052334	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcaatcatttgttccaGtcgaaattgtcacaaacagg	13	12	8	8	1	3	1	3	1	0	0	5	2	4	1	1	1	1	1	1	1	3	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2907G>A	p.=	p.Q969Q	ENST00000457511	25/35	269	207	62	263	263	0	strelka-varscan-mutect	MYO16,synonymous_variant,p.=,ENST00000457511,NM_001198950.1;MYO16,synonymous_variant,p.=,ENST00000356711,NM_015011.1;MYO16,synonymous_variant,p.=,ENST00000357550,;MYO16,downstream_gene_variant,,ENST00000251041,;MYO16,non_coding_transcript_exon_variant,,ENST00000375857,;	A	ENST00000457511	Transcript	synonymous_variant	3529/7436	2907/5643	969/1880	Q	caG/caA		1		1	MYO16	HGNC	HGNC:29822	protein_coding	YES	CCDS73598.1	ENSP00000401633		F8W883	UPI00002375AE	NM_001198950.1			25/35		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,SMART_domains:SM00242,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	109052334	109052334	G	A	1	0	0	0	0	0	0	0	1	10065	1020	36	3		3	MYO16	13	109052334	Silent	SNP	G	C3N-02089_TP	6198523	109052334	5311994	745	29542											
COL4A1	0	.	GRCh38	chr13	110208859	110208859	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcactcaccttgtcacctTttggtccttgaaaacttaag	10	14	6	11	0	2	1	2	1	0	0	3	1	3	1	3	1	2	1	3	1	3	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.683A>C	p.Lys228Thr	p.K228T	ENST00000375820	12/52	335	285	50	386	384	2	strelka-varscan-mutect	COL4A1,missense_variant,p.Lys228Thr,ENST00000375820,NM_001845.5;COL4A1,missense_variant,p.Lys228Thr,ENST00000543140,NM_001303110.1;COL4A1,missense_variant,p.Lys164Thr,ENST00000615732,;	G	ENST00000375820	Transcript	missense_variant	805/6532	683/5010	228/1669	K/T	aAa/aCa		1		-1	COL4A1	HGNC	HGNC:2202	protein_coding	YES	CCDS9511.1	ENSP00000364979	P02462		UPI000004981D	NM_001845.5	deleterious(0)		12/52																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	110208859	110208859	T	G	1	0	0	0	0	1	0	0	0	3478	1841	64	5		5	COL4A1	13	110208859	Missense_Mutation	SNP	T	C3N-02089_TP	1156525	110208859	4155469	746	29543											
ARHGEF7	0	.	GRCh38	chr13	111303103	111303103	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatcctgcctgggatgagaCcaatctataagggatgtcct	10	11	11	9	0	1	2	0	2	1	1	3	5	3	4	4	2	1	0	4	2	3	2			C3N-02089_TP	C3N-02089_NB	C	C																c.2108C>G	p.Thr703Ser	p.T703S	ENST00000218789	21/21	125	82	43	131	131	0	strelka-varscan-mutect	ARHGEF7,missense_variant,p.Thr703Ser,ENST00000218789,;ARHGEF7,missense_variant,p.Thr644Ser,ENST00000375736,NM_003899.3;ARHGEF7,missense_variant,p.Thr644Ser,ENST00000426073,NM_001320851.1,NM_001320853.1,NM_001113513.1;	G	ENST00000218789	Transcript	missense_variant	2605/5233	2108/2118	703/705	T/S	aCc/aGc	COSM3467279	1		1	ARHGEF7	HGNC	HGNC:15607	protein_coding			ENSP00000218789		B1ALK7	UPI000046FD82		tolerated(0.15)		21/21		Pfam_domain:PF16523,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF126											1						MODERATE		SNV	5		1	1										PASS		.	.												G	3	3	90	111303103	111303103	C	G	1	0	0	0	0	1	0	0	0	1047	507	18	4		4	ARHGEF7	13	111303103	Missense_Mutation	SNP	C	C3N-02089_TP	1094244	111303103	3061225	747	29544											
OR4K1	0	.	GRCh38	chr14	19935981	19935981	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagatattcgttcttcaCagttttgttgggagtgagat	8	15	11	7	1	2	2	1	1	1	2	3	4	2	3	1	1	0	3	1	1	1	7			C3N-02089_TP	C3N-02089_NB	C	C																c.315C>A	p.His105Gln	p.H105Q	ENST00000285600	1/1	159	118	41	187	187	0	strelka-varscan-mutect	OR4K1,missense_variant,p.His105Gln,ENST00000285600,NM_001004063.2;	A	ENST00000285600	Transcript	missense_variant	374/1076	315/936	105/311	H/Q	caC/caA	COSM1218664	1		1	OR4K1	HGNC	HGNC:14726	protein_coding	YES	CCDS32025.1	ENSP00000285600	Q8NGD4		UPI0000041B4A	NM_001004063.2	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF182,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	90	19935981	19935981	C	A	1	0	0	0	0	1	0	0	0	11144	477	17	2		2	OR4K1	14	19935981	Missense_Mutation	SNP	C	C3N-02089_TP		19935981	87107737	748	29545											
PRMT5	0	.	GRCh38	chr14	22927562	22927562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagtgtggatgtggttggtCaaaactctggccaggttggt	7	12	15	7	0	2	0	1	0	1	0	2	1	2	1	2	6	1	2	2	6	2	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.414G>C	p.Leu138Phe	p.L138F	ENST00000324366	4/17	188	138	50	221	221	0	strelka-varscan-mutect	PRMT5,missense_variant,p.Leu138Phe,ENST00000324366,NM_006109.4;PRMT5,missense_variant,p.Leu121Phe,ENST00000397441,NM_001039619.2;PRMT5,missense_variant,p.Leu77Phe,ENST00000216350,NM_001282954.1,NM_001282953.1;PRMT5,missense_variant,p.Leu94Phe,ENST00000553897,NM_001282955.1;PRMT5,missense_variant,p.Leu39Phe,ENST00000555530,;PRMT5,missense_variant,p.Leu96Phe,ENST00000554910,;PRMT5,missense_variant,p.Leu100Phe,ENST00000556616,;PRMT5,missense_variant,p.Leu148Phe,ENST00000421938,;PRMT5,intron_variant,,ENST00000397440,NM_001282956.1;PRMT5,intron_variant,,ENST00000553550,;PRMT5,intron_variant,,ENST00000554867,;PRMT5,upstream_gene_variant,,ENST00000555454,;PRMT5,upstream_gene_variant,,ENST00000454731,;PRMT5,upstream_gene_variant,,ENST00000556043,;PRMT5,upstream_gene_variant,,ENST00000553502,;PRMT5,downstream_gene_variant,,ENST00000627278,;PRMT5-AS1,downstream_gene_variant,,ENST00000424245,;PRMT5-AS1,downstream_gene_variant,,ENST00000609885,;PRMT5-AS1,downstream_gene_variant,,ENST00000599580,;PRMT5-AS1,downstream_gene_variant,,ENST00000457443,;PRMT5-AS1,downstream_gene_variant,,ENST00000587245,;PRMT5-AS1,downstream_gene_variant,,ENST00000590290,;PRMT5-AS1,downstream_gene_variant,,ENST00000595662,;RP11-298I3.1,upstream_gene_variant,,ENST00000548322,;RP11-298I3.1,upstream_gene_variant,,ENST00000548819,;PRMT5,non_coding_transcript_exon_variant,,ENST00000553641,;PRMT5,intron_variant,,ENST00000554716,;PRMT5,upstream_gene_variant,,ENST00000476175,;PRMT5,downstream_gene_variant,,ENST00000556426,;PRMT5,3_prime_UTR_variant,,ENST00000553915,;PRMT5,3_prime_UTR_variant,,ENST00000557415,;PRMT5,3_prime_UTR_variant,,ENST00000553787,;PRMT5,non_coding_transcript_exon_variant,,ENST00000556032,;PRMT5,non_coding_transcript_exon_variant,,ENST00000553417,;PRMT5,downstream_gene_variant,,ENST00000557015,;PRMT5,upstream_gene_variant,,ENST00000557758,;	G	ENST00000324366	Transcript	missense_variant	638/2531	414/1914	138/637	L/F	ttG/ttC		1		-1	PRMT5	HGNC	HGNC:10894	protein_coding	YES	CCDS9579.1	ENSP00000319169	O14744		UPI000006F09F	NM_006109.4	deleterious(0.04)		4/17		hmmpanther:PTHR10738,PIRSF_domain:PIRSF015894																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	22927562	22927562	C	G	1	0	0	0	0	1	0	0	0	12670	825	29	4		4	PRMT5	14	22927562	Missense_Mutation	SNP	C	C3N-02089_TP	2991581	22927562	84116156	749	29546											
PSME2	0	.	GRCh38	chr14	24143625	24143626	+	Frame_Shift_Ins	INS	-	-	A																															caccatggccctgagctcccINScataggctgcctcatctcgc																								novel		C3N-02089_TP	C3N-02089_NB	-	-																c.598_599insT	p.Gly200ValfsTer16	p.G200Vfs*16	ENST00000216802	10/11	185	148	37	215	215	0	sindel-varindel	PSME2,frameshift_variant,p.Gly200ValfsTer16,ENST00000216802,NM_002818.2;PSME2,frameshift_variant,p.Gly215ValfsTer16,ENST00000615264,;PSME2,frameshift_variant,p.Gly189ValfsTer16,ENST00000560410,;RNF31,upstream_gene_variant,,ENST00000324103,NM_017999.4;RNF31,upstream_gene_variant,,ENST00000559275,NM_001310332.1;RNF31,upstream_gene_variant,,ENST00000560787,;PSME1,downstream_gene_variant,,ENST00000382708,NM_176783.2;PSME1,downstream_gene_variant,,ENST00000559123,;PSME1,downstream_gene_variant,,ENST00000206451,NM_001281529.1,NM_006263.3;EMC9,upstream_gene_variant,,ENST00000419198,;PSME1,downstream_gene_variant,,ENST00000561435,NM_001281528.1;RNF31,upstream_gene_variant,,ENST00000559533,;EMC9,upstream_gene_variant,,ENST00000560403,;EMC9,upstream_gene_variant,,ENST00000216799,NM_016049.3;RNF31,upstream_gene_variant,,ENST00000557991,;RNF31,upstream_gene_variant,,ENST00000560071,;RNF31,upstream_gene_variant,,ENST00000559308,;RNF31,upstream_gene_variant,,ENST00000559260,;RNF31,upstream_gene_variant,,ENST00000560875,;PSME2,downstream_gene_variant,,ENST00000559056,;PSME2,downstream_gene_variant,,ENST00000630027,;RP11-468E2.5,downstream_gene_variant,,ENST00000558478,;PSME2,upstream_gene_variant,,ENST00000620784,;PSME2,non_coding_transcript_exon_variant,,ENST00000471700,;EMC9,upstream_gene_variant,,ENST00000558200,;RNF31,upstream_gene_variant,,ENST00000557878,;RNF31,upstream_gene_variant,,ENST00000559438,;RNF31,upstream_gene_variant,,ENST00000559882,;RNF31,upstream_gene_variant,,ENST00000558634,;RNF31,upstream_gene_variant,,ENST00000559583,;PSME2,downstream_gene_variant,,ENST00000561103,;PSME2,downstream_gene_variant,,ENST00000559613,;PSME2,3_prime_UTR_variant,,ENST00000558273,;PSME2,3_prime_UTR_variant,,ENST00000560370,;PSME2,non_coding_transcript_exon_variant,,ENST00000558931,;PSME2,non_coding_transcript_exon_variant,,ENST00000559453,;PSME2,non_coding_transcript_exon_variant,,ENST00000559042,;PSME2,non_coding_transcript_exon_variant,,ENST00000559005,;RNF31,upstream_gene_variant,,ENST00000491351,;PSME1,downstream_gene_variant,,ENST00000560420,;RNF31,upstream_gene_variant,,ENST00000560342,;PSME1,downstream_gene_variant,,ENST00000561142,;PSME2,downstream_gene_variant,,ENST00000560788,;RNF31,upstream_gene_variant,,ENST00000558907,;EMC9,upstream_gene_variant,,ENST00000560600,;PSME1,downstream_gene_variant,,ENST00000559741,;PSME2,downstream_gene_variant,,ENST00000560592,;PSME2,downstream_gene_variant,,ENST00000559493,;PSME1,downstream_gene_variant,,ENST00000558112,;EMC9,upstream_gene_variant,,ENST00000558045,;EMC9,upstream_gene_variant,,ENST00000559101,;PSME2,downstream_gene_variant,,ENST00000559359,;	A	ENST00000216802	Transcript	frameshift_variant	1238-1239/1404	598-599/720	200/239	G/VX	ggg/gTgg		1		-1	PSME2	HGNC	HGNC:9569	protein_coding	YES	CCDS9614.1	ENSP00000216802	Q9UL46	Q86SZ7	UPI000000CC17	NM_002818.2			10/11		Gene3D:1.20.120.180,Pfam_domain:PF02252,hmmpanther:PTHR10660,hmmpanther:PTHR10660:SF6,Superfamily_domains:SSF47216																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	90	24143625	24143625	-	A	1	0	1	1	0	0	0	0	0	12858	623	22	0		0	PSME2	14	24143625	Frame_Shift_Ins	INS	-	C3N-02089_TP	1216063	24143625	82900093	750	29547	617	3									
PSME2	0	.	GRCh38	chr14	24143626	24143626	+	Missense_Mutation	SNP	C	C	A																															caccatggccctgagctcccCataggctgcctcatctcgct																										C3N-02089_TP	C3N-02089_NB	C	C																c.598G>T	p.Gly200Trp	p.G200W	ENST00000216802	10/11	201	165	36	221	221	0	strelka-mutect	PSME2,missense_variant,p.Gly200Trp,ENST00000216802,NM_002818.2;PSME2,missense_variant,p.Gly215Trp,ENST00000615264,;PSME2,missense_variant,p.Gly189Trp,ENST00000560410,;RNF31,upstream_gene_variant,,ENST00000324103,NM_017999.4;RNF31,upstream_gene_variant,,ENST00000559275,NM_001310332.1;RNF31,upstream_gene_variant,,ENST00000560787,;PSME1,downstream_gene_variant,,ENST00000382708,NM_176783.2;PSME1,downstream_gene_variant,,ENST00000559123,;PSME1,downstream_gene_variant,,ENST00000206451,NM_001281529.1,NM_006263.3;EMC9,upstream_gene_variant,,ENST00000419198,;PSME1,downstream_gene_variant,,ENST00000561435,NM_001281528.1;RNF31,upstream_gene_variant,,ENST00000559533,;EMC9,upstream_gene_variant,,ENST00000560403,;EMC9,upstream_gene_variant,,ENST00000216799,NM_016049.3;RNF31,upstream_gene_variant,,ENST00000557991,;RNF31,upstream_gene_variant,,ENST00000560071,;RNF31,upstream_gene_variant,,ENST00000559308,;RNF31,upstream_gene_variant,,ENST00000559260,;RNF31,upstream_gene_variant,,ENST00000560875,;PSME2,downstream_gene_variant,,ENST00000559056,;PSME2,downstream_gene_variant,,ENST00000630027,;RP11-468E2.5,downstream_gene_variant,,ENST00000558478,;PSME2,upstream_gene_variant,,ENST00000620784,;PSME2,non_coding_transcript_exon_variant,,ENST00000471700,;EMC9,upstream_gene_variant,,ENST00000558200,;RNF31,upstream_gene_variant,,ENST00000557878,;RNF31,upstream_gene_variant,,ENST00000559438,;RNF31,upstream_gene_variant,,ENST00000559882,;RNF31,upstream_gene_variant,,ENST00000558634,;RNF31,upstream_gene_variant,,ENST00000559583,;PSME2,downstream_gene_variant,,ENST00000561103,;PSME2,downstream_gene_variant,,ENST00000559613,;PSME2,3_prime_UTR_variant,,ENST00000558273,;PSME2,3_prime_UTR_variant,,ENST00000560370,;PSME2,non_coding_transcript_exon_variant,,ENST00000558931,;PSME2,non_coding_transcript_exon_variant,,ENST00000559453,;PSME2,non_coding_transcript_exon_variant,,ENST00000559042,;PSME2,non_coding_transcript_exon_variant,,ENST00000559005,;RNF31,upstream_gene_variant,,ENST00000491351,;PSME1,downstream_gene_variant,,ENST00000560420,;RNF31,upstream_gene_variant,,ENST00000560342,;PSME1,downstream_gene_variant,,ENST00000561142,;PSME2,downstream_gene_variant,,ENST00000560788,;RNF31,upstream_gene_variant,,ENST00000558907,;EMC9,upstream_gene_variant,,ENST00000560600,;PSME1,downstream_gene_variant,,ENST00000559741,;PSME2,downstream_gene_variant,,ENST00000560592,;PSME2,downstream_gene_variant,,ENST00000559493,;PSME1,downstream_gene_variant,,ENST00000558112,;EMC9,upstream_gene_variant,,ENST00000558045,;EMC9,upstream_gene_variant,,ENST00000559101,;PSME2,downstream_gene_variant,,ENST00000559359,;	A	ENST00000216802	Transcript	missense_variant	1238/1404	598/720	200/239	G/W	Ggg/Tgg	COSM552765	1		-1	PSME2	HGNC	HGNC:9569	protein_coding	YES	CCDS9614.1	ENSP00000216802	Q9UL46	Q86SZ7	UPI000000CC17	NM_002818.2	tolerated(0.18)		10/11		Gene3D:1.20.120.180,Pfam_domain:PF02252,hmmpanther:PTHR10660,hmmpanther:PTHR10660:SF6,Superfamily_domains:SSF47216											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	90	24143626	24143626	C	A	1	0	0	0	0	1	0	0	0	12858	594	21	2		2	PSME2	14	24143626	Missense_Mutation	SNP	C	C3N-02089_TP	1	24143626	82900092	751	29548	617	3									
PSME2	0	.	GRCh38	chr14	24143628	24143628	+	Missense_Mutation	SNP	T	T	A																															ccatggccctgagctccccaTaggctgcctcatctcgctca																										C3N-02089_TP	C3N-02089_NB	T	T																c.596A>T	p.Tyr199Phe	p.Y199F	ENST00000216802	10/11	207	169	38	221	221	0	strelka-mutect	PSME2,missense_variant,p.Tyr199Phe,ENST00000216802,NM_002818.2;PSME2,missense_variant,p.Tyr214Phe,ENST00000615264,;PSME2,missense_variant,p.Tyr188Phe,ENST00000560410,;RNF31,upstream_gene_variant,,ENST00000324103,NM_017999.4;RNF31,upstream_gene_variant,,ENST00000559275,NM_001310332.1;RNF31,upstream_gene_variant,,ENST00000560787,;PSME1,downstream_gene_variant,,ENST00000382708,NM_176783.2;PSME1,downstream_gene_variant,,ENST00000559123,;PSME1,downstream_gene_variant,,ENST00000206451,NM_001281529.1,NM_006263.3;EMC9,upstream_gene_variant,,ENST00000419198,;PSME1,downstream_gene_variant,,ENST00000561435,NM_001281528.1;RNF31,upstream_gene_variant,,ENST00000559533,;EMC9,upstream_gene_variant,,ENST00000560403,;EMC9,upstream_gene_variant,,ENST00000216799,NM_016049.3;RNF31,upstream_gene_variant,,ENST00000557991,;RNF31,upstream_gene_variant,,ENST00000560071,;RNF31,upstream_gene_variant,,ENST00000559308,;RNF31,upstream_gene_variant,,ENST00000559260,;RNF31,upstream_gene_variant,,ENST00000560875,;PSME2,downstream_gene_variant,,ENST00000559056,;PSME2,downstream_gene_variant,,ENST00000630027,;RP11-468E2.5,downstream_gene_variant,,ENST00000558478,;PSME2,upstream_gene_variant,,ENST00000620784,;PSME2,non_coding_transcript_exon_variant,,ENST00000471700,;EMC9,upstream_gene_variant,,ENST00000558200,;RNF31,upstream_gene_variant,,ENST00000557878,;RNF31,upstream_gene_variant,,ENST00000559438,;RNF31,upstream_gene_variant,,ENST00000559882,;RNF31,upstream_gene_variant,,ENST00000558634,;RNF31,upstream_gene_variant,,ENST00000559583,;PSME2,downstream_gene_variant,,ENST00000561103,;PSME2,downstream_gene_variant,,ENST00000559613,;PSME2,3_prime_UTR_variant,,ENST00000558273,;PSME2,3_prime_UTR_variant,,ENST00000560370,;PSME2,non_coding_transcript_exon_variant,,ENST00000558931,;PSME2,non_coding_transcript_exon_variant,,ENST00000559453,;PSME2,non_coding_transcript_exon_variant,,ENST00000559042,;PSME2,non_coding_transcript_exon_variant,,ENST00000559005,;RNF31,upstream_gene_variant,,ENST00000491351,;PSME1,downstream_gene_variant,,ENST00000560420,;RNF31,upstream_gene_variant,,ENST00000560342,;PSME1,downstream_gene_variant,,ENST00000561142,;PSME2,downstream_gene_variant,,ENST00000560788,;RNF31,upstream_gene_variant,,ENST00000558907,;EMC9,upstream_gene_variant,,ENST00000560600,;PSME1,downstream_gene_variant,,ENST00000559741,;PSME2,downstream_gene_variant,,ENST00000560592,;PSME2,downstream_gene_variant,,ENST00000559493,;PSME1,downstream_gene_variant,,ENST00000558112,;EMC9,upstream_gene_variant,,ENST00000558045,;EMC9,upstream_gene_variant,,ENST00000559101,;PSME2,downstream_gene_variant,,ENST00000559359,;	A	ENST00000216802	Transcript	missense_variant	1236/1404	596/720	199/239	Y/F	tAt/tTt	COSM4952694	1		-1	PSME2	HGNC	HGNC:9569	protein_coding	YES	CCDS9614.1	ENSP00000216802	Q9UL46	Q86SZ7	UPI000000CC17	NM_002818.2	tolerated(0.18)		10/11		Gene3D:1.20.120.180,Pfam_domain:PF02252,hmmpanther:PTHR10660,hmmpanther:PTHR10660:SF6,Superfamily_domains:SSF47216											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	90	24143628	24143628	T	A	1	0	0	0	0	1	0	0	0	12858	1406	49	4		4	PSME2	14	24143628	Missense_Mutation	SNP	T	C3N-02089_TP	2	24143628	82900090	752	29549	617	3									
PRKD1	0	.	GRCh38	chr14	29927380	29927380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaacgagatgcccccgaccgGggccgcgacaggagccaaga	11	1	15	14	5	0	2	0	0	0	2	0	7	0	3	5	3	3	0	5	3	2	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.133C>A	p.Pro45Thr	p.P45T	ENST00000331968	1/18	163	128	35	167	166	1	strelka-varscan-mutect	PRKD1,missense_variant,p.Pro45Thr,ENST00000331968,NM_002742.2;PRKD1,missense_variant,p.Pro45Thr,ENST00000616995,;PRKD1,missense_variant,p.Pro45Thr,ENST00000415220,;PRKD1,intron_variant,,ENST00000549503,;	T	ENST00000331968	Transcript	missense_variant	363/3726	133/2739	45/912	P/T	Ccg/Acg		1		-1	PRKD1	HGNC	HGNC:9407	protein_coding	YES	CCDS9637.1	ENSP00000333568	Q15139		UPI0000456761	NM_002742.2	tolerated(0.08)		1/18		PIRSF_domain:PIRSF000552,hmmpanther:PTHR22968,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	29927380	29927380	G	T	1	0	0	0	0	1	0	0	0	12651	1232	43	2		2	PRKD1	14	29927380	Missense_Mutation	SNP	G	C3N-02089_TP	5783752	29927380	77116338	753	29550											
RALGAPA1	0	.	GRCh38	chr14	35752054	35752054	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgatataaactgttttcctTacagatgtttggaaaaatat	15	16	6	4	0	0	2	0	1	0	1	1	3	1	3	1	1	2	2	1	1	7	7	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.772A>T	p.Lys258Ter	p.K258*	ENST00000307138	8/40	103	73	30	167	167	0	strelka-varscan-mutect	RALGAPA1,stop_gained,p.Lys258Ter,ENST00000637992,;RALGAPA1,stop_gained,p.Lys258Ter,ENST00000307138,NM_194301.2;RALGAPA1,stop_gained,p.Lys258Ter,ENST00000389698,NM_014990.1;RALGAPA1,stop_gained,p.Lys258Ter,ENST00000382366,NM_001283043.1;RALGAPA1,stop_gained,p.Lys258Ter,ENST00000553892,NM_001283044.1;SNORA31,upstream_gene_variant,,ENST00000517250,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554704,;RALGAPA1,intron_variant,,ENST00000555828,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554652,;RALGAPA1,upstream_gene_variant,,ENST00000557104,;	A	ENST00000307138	Transcript	stop_gained	1241/7911	772/6252	258/2083	K/*	Aag/Tag		1		-1	RALGAPA1	HGNC	HGNC:17770	protein_coding	YES	CCDS32064.1	ENSP00000302647	Q6GYQ0		UPI00003B5C51	NM_194301.2			8/40																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	90	35752054	35752054	T	A	1	0	0	0	0	0	1	0	0	13172	1763	61	4		4	RALGAPA1	14	35752054	Nonsense_Mutation	SNP	T	C3N-02089_TP	5824674	35752054	71291664	754	29551											
SLC25A21	0	.	GRCh38	chr14	36711424	36711424	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatcctttgttgaggcccTggagtccccagccttccttc	5	14	8	14	0	0	1	0	1	0	0	4	2	3	2	6	2	1	1	6	2	1	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.497A>T	p.Gln166Leu	p.Q166L	ENST00000331299	7/10	188	172	16	196	196	0	strelka-varscan-mutect	SLC25A21,missense_variant,p.Gln166Leu,ENST00000331299,NM_030631.3;SLC25A21,missense_variant,p.Gln166Leu,ENST00000555449,NM_001171170.1;SLC25A21,non_coding_transcript_exon_variant,,ENST00000556444,;	A	ENST00000331299	Transcript	missense_variant	1013/2785	497/900	166/299	Q/L	cAg/cTg		1		-1	SLC25A21	HGNC	HGNC:14411	protein_coding	YES	CCDS9663.1	ENSP00000329452	Q9BQT8		UPI0000130BCE	NM_030631.3	deleterious(0.04)		7/10		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF390																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	36711424	36711424	T	A	1	0	0	0	0	1	0	0	0	14749	1580	55	4		4	SLC25A21	14	36711424	Missense_Mutation	SNP	T	C3N-02089_TP	959370	36711424	70332294	755	29552											
TRIM9	0	.	GRCh38	chr14	51000803	51000803	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgggtacaacattcctcCagctgtaggataggggttgc	8	12	13	8	0	0	0	0	0	0	0	2	1	2	1	2	4	4	4	2	4	4	6	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1344G>C	p.=	p.L448L	ENST00000298355	6/10	176	147	29	167	167	0	strelka-varscan-mutect	TRIM9,synonymous_variant,p.=,ENST00000298355,NM_015163.5;TRIM9,synonymous_variant,p.=,ENST00000360392,NM_052978.4;TRIM9,synonymous_variant,p.=,ENST00000338969,;	G	ENST00000298355	Transcript	synonymous_variant	2466/5284	1344/2133	448/710	L	ctG/ctC		1		-1	TRIM9	HGNC	HGNC:16288	protein_coding	YES	CCDS9703.1	ENSP00000298355	Q9C026		UPI000006D630	NM_015163.5			6/10		PROSITE_profiles:PS50853,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF400,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	90	51000803	51000803	C	G	1	0	0	0	0	0	0	0	1	17046	581	21	4		4	TRIM9	14	51000803	Silent	SNP	C	C3N-02089_TP	14289379	51000803	56042915	756	29553											
KIAA0586	0	.	GRCh38	chr14	58465973	58465973	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagcccaagtagagaaaTgcctactttttcaggtacat	12	12	8	9	0	2	1	2	0	0	1	2	2	2	1	2	1	4	3	2	1	5	6	rs752363556		C3N-02089_TP	C3N-02089_NB	T	T																c.2357T>A	p.Met786Lys	p.M786K	ENST00000354386	17/34	163	154	9	150	150	0	strelka-varscan-mutect	KIAA0586,missense_variant,p.Met718Lys,ENST00000619416,NM_001244190.1;KIAA0586,missense_variant,p.Met689Lys,ENST00000556134,;KIAA0586,missense_variant,p.Met648Lys,ENST00000619722,NM_001244191.1;KIAA0586,missense_variant,p.Met689Lys,ENST00000423743,NM_001244192.1;KIAA0586,missense_variant,p.Met786Lys,ENST00000354386,NM_001244189.1;KIAA0586,missense_variant,p.Met657Lys,ENST00000261244,NM_014749.3;KIAA0586,non_coding_transcript_exon_variant,,ENST00000538571,;HSBP1P1,downstream_gene_variant,,ENST00000555205,;	A	ENST00000354386	Transcript	missense_variant	2601/5226	2357/4935	786/1644	M/K	aTg/aAg	rs752363556	1		1	KIAA0586	HGNC	HGNC:19960	protein_coding	YES	CCDS58320.1	ENSP00000346359	Q9BVV6		UPI0001AE6998	NM_001244189.1	deleterious(0.01)		17/34		hmmpanther:PTHR15721:SF2,hmmpanther:PTHR15721,Pfam_domain:PF15324																	MODERATE	1	SNV	2			1										PASS		rs752363556	.												A	3	1	90	58465973	58465973	T	A	1	0	0	0	0	1	0	0	0	8089	1464	51	4		4	KIAA0586	14	58465973	Missense_Mutation	SNP	T	C3N-02089_TP	7465170	58465973	48577745	757	29554											
DPF3	0	.	GRCh38	chr14	72892258	72892258	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatcagttgtgggttcggtAgaaacagcatcagcggtgtt	11	11	13	6	2	2	1	2	0	0	1	3	1	2	1	0	3	3	5	0	3	3	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.86T>C	p.Leu29Pro	p.L29P	ENST00000610283	1/10	225	162	63	266	266	0	strelka-varscan-mutect	DPF3,missense_variant,p.Leu29Pro,ENST00000610283,NM_001280544.1;DPF3,intron_variant,,ENST00000614862,NM_001280543.1;DPF3,intron_variant,,ENST00000541685,NM_012074.4;DPF3,intron_variant,,ENST00000546183,;DPF3,intron_variant,,ENST00000556509,NM_001280542.1;DPF3,missense_variant,p.Leu29Pro,ENST00000366353,;DPF3,intron_variant,,ENST00000381216,;	G	ENST00000610283	Transcript	missense_variant	392/4520	86/1239	29/412	L/P	cTa/cCa		1		-1	DPF3	HGNC	HGNC:17427	protein_coding	YES	CCDS61496.1	ENSP00000479526		F8W7T1	UPI00020659D3	NM_001280544.1	deleterious_low_confidence(0.01)		1/10																			MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	90	72892258	72892258	A	G	1	0	0	0	0	1	0	0	0	4532	420	15	5		5	DPF3	14	72892258	Missense_Mutation	SNP	A	C3N-02089_TP	14426285	72892258	34151460	758	29555											
DNAL1	0	.	GRCh38	chr14	73687323	73687323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttattgagaagttgaaagGgatccacataatgaagaaat	17	12	9	3	0	0	4	0	3	0	2	1	6	1	5	1	1	0	1	1	1	6	5	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.329G>T	p.Gly110Val	p.G110V	ENST00000553645	6/8	115	100	15	133	133	0	strelka-varscan-mutect	DNAL1,missense_variant,p.Gly110Val,ENST00000553645,NM_031427.3;DNAL1,missense_variant,p.Gly71Val,ENST00000554871,NM_001201366.1;DNAL1,missense_variant,p.Gly71Val,ENST00000555631,;DNAL1,missense_variant,p.Gly23Val,ENST00000554339,;DNAL1,5_prime_UTR_variant,,ENST00000311089,;DNAL1,5_prime_UTR_variant,,ENST00000559993,;DNAL1,5_prime_UTR_variant,,ENST00000554113,;DNAL1,downstream_gene_variant,,ENST00000555919,;DNAL1,3_prime_UTR_variant,,ENST00000554159,;	T	ENST00000553645	Transcript	missense_variant	370/8404	329/573	110/190	G/V	gGg/gTg		1		1	DNAL1	HGNC	HGNC:23247	protein_coding	YES	CCDS45134.1	ENSP00000452037	Q4LDG9		UPI000004470E	NM_031427.3	deleterious(0)		6/8		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,SMART_domains:SM00365,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	73687323	73687323	G	T	1	0	0	0	0	1	0	0	0	4470	1232	43	2		2	DNAL1	14	73687323	Missense_Mutation	SNP	G	C3N-02089_TP	795065	73687323	33356395	759	29556											
RPS6KL1	0	.	GRCh38	chr14	74911813	74911813	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcaccacaaaggtccctCcggttgccgggtcctggacc	6	8	10	17	2	1	0	1	0	0	0	4	1	4	1	7	4	1	1	7	4	1	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.512G>T	p.Gly171Val	p.G171V	ENST00000354625	5/11	192	154	38	177	177	0	strelka-varscan-mutect	RPS6KL1,missense_variant,p.Gly171Val,ENST00000354625,NM_031464.4;RPS6KL1,missense_variant,p.Gly171Val,ENST00000555647,;RPS6KL1,missense_variant,p.Gly171Val,ENST00000557413,;RPS6KL1,upstream_gene_variant,,ENST00000556848,;RPS6KL1,upstream_gene_variant,,ENST00000555910,;RPS6KL1,upstream_gene_variant,,ENST00000553315,;RPS6KL1,upstream_gene_variant,,ENST00000553789,;RPS6KL1,upstream_gene_variant,,ENST00000553971,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000554900,;RPS6KL1,missense_variant,p.Gly140Val,ENST00000555009,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000555834,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000553894,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000554834,;RPS6KL1,upstream_gene_variant,,ENST00000553646,;	A	ENST00000354625	Transcript	missense_variant	997/5195	512/1650	171/549	G/V	gGa/gTa		1		-1	RPS6KL1	HGNC	HGNC:20222	protein_coding	YES	CCDS9834.2	ENSP00000346644	Q9Y6S9		UPI0000035B53	NM_031464.4	deleterious(0.01)		5/11		PROSITE_profiles:PS50011,hmmpanther:PTHR15508,Gene3D:3.30.200.20,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	90	74911813	74911813	C	A	1	0	0	0	0	1	0	0	0	13914	855	30	2		2	RPS6KL1	14	74911813	Missense_Mutation	SNP	C	C3N-02089_TP	1224490	74911813	32131905	760	29557											
NRXN3	0	.	GRCh38	chr14	78645381	78645381	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatggaaaattcaacgacaAcgcctggcatgatgtcaaag	16	7	10	8	2	2	1	2	1	0	0	2	4	2	2	1	2	2	1	1	2	6	1	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1013A>C	p.Asn338Thr	p.N338T	ENST00000634499	5/20	62	50	12	74	73	1	strelka-varscan-mutect	NRXN3,missense_variant,p.Asn338Thr,ENST00000634499,;NRXN3,missense_variant,p.Asn340Thr,ENST00000635466,;NRXN3,missense_variant,p.Asn101Thr,ENST00000335750,;NRXN3,missense_variant,p.Asn105Thr,ENST00000553363,;NRXN3,5_prime_UTR_variant,,ENST00000554719,NM_004796.5;NRXN3,intron_variant,,ENST00000553631,;NRXN3,non_coding_transcript_exon_variant,,ENST00000634266,;NRXN3,missense_variant,p.Asn338Thr,ENST00000554738,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556496,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556088,;	C	ENST00000634499	Transcript	missense_variant	2018/6069	1013/4995	338/1664	N/T	aAc/aCc		1		1	NRXN3	HGNC	HGNC:8010	protein_coding			ENSP00000488920		A0A0U1RQC5	UPI000719A152				5/20		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF405,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	90	78645381	78645381	A	C	1	0	0	0	0	1	0	0	0	10726	43	2	5		5	NRXN3	14	78645381	Missense_Mutation	SNP	A	C3N-02089_TP	3733568	78645381	28398337	761	29558											
SEL1L	0	.	GRCh38	chr14	81484303	81484303	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttgctgctcagaagcCagacggtaatgaataaatgc	12	10	11	8	1	1	3	1	1	0	2	1	3	1	3	1	1	4	4	1	1	5	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1968G>T	p.=	p.L656L	ENST00000336735	19/21	145	120	25	160	160	0	strelka-varscan-mutect	SEL1L,synonymous_variant,p.=,ENST00000336735,NM_005065.5;SEL1L,non_coding_transcript_exon_variant,,ENST00000554293,;SEL1L,downstream_gene_variant,,ENST00000555923,;	A	ENST00000336735	Transcript	synonymous_variant	2085/7925	1968/2385	656/794	L	ctG/ctT		1		-1	SEL1L	HGNC	HGNC:10717	protein_coding	YES	CCDS9876.1	ENSP00000337053	Q9UBV2		UPI0000135746	NM_005065.5			19/21		Gene3D:1.25.40.10,Pfam_domain:PF08238,hmmpanther:PTHR11102,hmmpanther:PTHR11102:SF70,SMART_domains:SM00671,Superfamily_domains:SSF81901																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	81484303	81484303	C	A	1	0	0	0	0	0	0	0	1	14287	581	21	2		2	SEL1L	14	81484303	Silent	SNP	C	C3N-02089_TP	2838922	81484303	25559415	762	29559											
UNC79	0	.	GRCh38	chr14	93542568	93542568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactgcgtatatgatggatGatgaagtgggaagtctggtg	10	11	15	5	1	1	3	0	3	1	0	1	5	1	5	1	3	1	1	1	3	4	2			C3N-02089_TP	C3N-02089_NB	G	G																c.1096G>A	p.Asp366Asn	p.D366N	ENST00000256339	14/50	333	245	88	340	340	0	strelka-varscan-mutect	UNC79,missense_variant,p.Asp543Asn,ENST00000553484,;UNC79,missense_variant,p.Asp543Asn,ENST00000555664,;UNC79,missense_variant,p.Asp366Asn,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Asp543Asn,ENST00000393151,;UNC79,missense_variant,p.Asp366Asn,ENST00000621021,;	A	ENST00000256339	Transcript	missense_variant	1751/8400	1096/7377	366/2458	D/N	Gat/Aat	COSM4053132,COSM4053133	1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3	deleterious(0.03)		14/50		hmmpanther:PTHR21696:SF2,hmmpanther:PTHR21696,Pfam_domain:PF14776											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	90	93542568	93542568	G	A	1	0	0	0	0	1	0	0	0	17520	1290	45	3		3	UNC79	14	93542568	Missense_Mutation	SNP	G	C3N-02089_TP	12058265	93542568	13501150	763	29560											
LINC00521	0	.	GRCh38	chr14	94003352	94003352	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacacaccagcagcagctatAatgtgagtccagtctttcag	12	9	8	12	0	2	1	1	1	1	0	3	1	3	1	2	0	3	3	2	0	2	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.496A>C	p.Asn166His	p.N166H	ENST00000636493	5/7	116	106	10	95	95	0	strelka-varscan-mutect	LINC00521,missense_variant,p.Asn166His,ENST00000636493,;LINC00521,downstream_gene_variant,,ENST00000449472,;LINC00521,downstream_gene_variant,,ENST00000455802,;LINC00521,splice_region_variant,,ENST00000444118,;LINC00521,splice_region_variant,,ENST00000359253,;	C	ENST00000636493	Transcript	missense_variant,splice_region_variant	905/1279	496/819	166/272	N/H	Aat/Cat		1		1	LINC00521	HGNC	HGNC:19860	protein_coding	YES		ENSP00000490086			UPI0000EE335E		tolerated(0.18)		5/7		hmmpanther:PTHR21683,hmmpanther:PTHR21683:SF10																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	90	94003352	94003352	A	C	1	0	0	0	0	1	0	0	0	8726	376	13	5		5	LINC00521	14	94003352	Missense_Mutation	SNP	A	C3N-02089_TP	460784	94003352	13040366	764	29561											
DYNC1H1	0	.	GRCh38	chr14	101997041	101997041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaactctcaaagctctacCgcaatggccagcgcttactg	10	11	7	13	2	2	0	1	0	2	0	3	0	2	0	2	1	5	3	2	1	5	4	rs774198261		C3N-02089_TP	C3N-02089_NB	C	C																c.3571C>T	p.Arg1191Cys	p.R1191C	ENST00000360184	16/78	241	167	74	312	312	0	strelka-varscan-mutect	DYNC1H1,missense_variant,p.Arg1191Cys,ENST00000360184,NM_001376.4;	T	ENST00000360184	Transcript	missense_variant	3735/14333	3571/13941	1191/4646	R/C	Cgc/Tgc	rs774198261,COSM953452	1		1	DYNC1H1	HGNC	HGNC:2961	protein_coding	YES	CCDS9966.1	ENSP00000348965	Q14204		UPI00001B515A	NM_001376.4	deleterious(0)		16/78		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF28											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs774198261	.												T	3	4	90	101997041	101997041	C	T	1	0	0	0	0	1	0	0	0	4665	652	23	1		1	DYNC1H1	14	101997041	Missense_Mutation	SNP	C	C3N-02089_TP	7993689	101997041	5046677	765	29562											
RP11-294C11.1	0	.	GRCh38	chr15	21638766	21638766	+	Frame_Shift_Del	DEL	G	G	-																															ccattgtggtgctaatgtttGggccatccatctacatttat																								novel		C3N-02089_TP	C3N-02089_NB	G	G																c.762delG	p.Pro255HisfsTer15	p.P255Hfs*15	ENST00000332663	1/1	43	30	13	56	56	0	sindel-varindel-pindel	RP11-294C11.1,frameshift_variant,p.Pro255HisfsTer15,ENST00000332663,;RP11-983G14.1,intron_variant,,ENST00000628444,;RP11-983G14.1,intron_variant,,ENST00000625989,;	-	ENST00000332663	Transcript	frameshift_variant	858/1084	760/942	254/313	G/X	Ggg/gg		1		1	RP11-294C11.1	Clone_based_vega_gene		protein_coding	YES		ENSP00000329467		A0A0X1KG70	UPI0004E4CC2D				1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	HIGH		deletion		2		1										PASS		.	.												-	7	5	90	21638766	21638766	G	-	1	0	1	0	1	0	0	0	0	13726	1348	47	0		0	RP11-294C11.1	15	21638766	Frame_Shift_Del	DEL	G	C3N-02089_TP		21638766	80352423	766	29563											
RP11-294C11.3	0	.	GRCh38	chr15	21652590	21652590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcttctggcttcctatgCagtcatcctctgccatgttc	4	14	10	13	0	3	0	1	0	2	0	6	0	5	0	3	3	2	4	3	3	1	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.656C>T	p.Ala219Val	p.A219V	ENST00000623441	1/1	36	16	20	27	27	0	strelka-varscan-mutect	RP11-294C11.3,missense_variant,p.Ala219Val,ENST00000623441,;RP11-294C11.3,missense_variant,p.Ala114Val,ENST00000629333,;RP11-983G14.1,non_coding_transcript_exon_variant,,ENST00000628444,;	T	ENST00000623441	Transcript	missense_variant	747/1125	656/951	219/316	A/V	gCa/gTa		1		1	RP11-294C11.3	Clone_based_vega_gene		protein_coding	YES		ENSP00000485668		A0A096LPK9	UPI000514C5E0		tolerated(0.42)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF97,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		.	.												T	3	4	90	21652590	21652590	C	T	1	0	0	0	0	1	0	0	0	13727	710	25	3		3	RP11-294C11.3	15	21652590	Missense_Mutation	SNP	C	C3N-02089_TP	13824	21652590	80338599	767	29564											
NPAP1	0	.	GRCh38	chr15	24679086	24679086	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgctgcaccacaaggggcTagcaacattcctgtatttgg	9	10	11	11	0	0	0	0	0	0	0	1	0	1	0	2	3	4	6	2	3	4	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.3219T>A	p.=	p.A1073A	ENST00000329468	1/1	204	137	67	235	235	0	strelka-varscan-mutect	NPAP1,synonymous_variant,p.=,ENST00000329468,NM_018958.2;	A	ENST00000329468	Transcript	synonymous_variant	3219/7526	3219/3471	1073/1156	A	gcT/gcA		1		1	NPAP1	HGNC	HGNC:1190	protein_coding	YES	CCDS10015.1	ENSP00000333735	Q9NZP6		UPI00001AFA1B	NM_018958.2			1/1		hmmpanther:PTHR23193:SF15,hmmpanther:PTHR23193																	LOW	1	SNV				1										PASS		.	.												A	2	1	90	24679086	24679086	T	A	1	0	0	0	0	0	0	0	1	10609	1509	53	4		4	NPAP1	15	24679086	Silent	SNP	T	C3N-02089_TP	3026496	24679086	77312103	768	29565											
AC124312.1	0	.	GRCh38	chr15	25092308	25092308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttttcgtagcagcagtGgaagtcagttgtgaggaggt	8	12	17	4	1	1	1	1	1	0	0	2	3	1	3	0	4	2	5	0	4	2	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.70C>A	p.His24Asn	p.H24N	ENST00000623624	1/1	193	144	49	209	207	2	strelka-varscan-mutect	AC124312.1,missense_variant,p.His24Asn,ENST00000623624,;RP11-701H24.4,downstream_gene_variant,,ENST00000567527,;SNORD116-22,downstream_gene_variant,,ENST00000384430,;SNORD116-21,downstream_gene_variant,,ENST00000384507,;SNORD116-20,downstream_gene_variant,,ENST00000384529,;SNORD116-24,upstream_gene_variant,,ENST00000384549,;SNORD116-23,downstream_gene_variant,,ENST00000384645,;SNHG14,intron_variant,,ENST00000546682,;SNHG14,intron_variant,,ENST00000549804,;SNHG14,intron_variant,,ENST00000553108,;	T	ENST00000623624	Transcript	missense_variant	70/418	70/417	24/138	H/N	Cac/Aac		1		-1	AC124312.1	Clone_based_ensembl_gene		protein_coding	YES		ENSP00000485422		A0A0B4J2H5	UPI000006F2CD				1/1																			MODERATE		SNV				1										PASS		.	.												T	3	4	90	25092308	25092308	G	T	1	0	0	0	0	1	0	0	0	141	1348	47	2		2	AC124312.1	15	25092308	Missense_Mutation	SNP	G	C3N-02089_TP	413222	25092308	76898881	769	29566											
HERC2	0	.	GRCh38	chr15	28218639	28218639	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtaaacatcattgcagTggggtgaatgttcctttcag	9	13	12	7	0	2	1	2	1	0	0	3	1	3	1	1	3	2	4	1	3	3	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.5878A>T	p.Thr1960Ser	p.T1960S	ENST00000261609	38/93	202	150	52	277	275	2	strelka-varscan-mutect	HERC2,missense_variant,p.Thr1960Ser,ENST00000261609,NM_004667.5;HERC2,downstream_gene_variant,,ENST00000569335,;	A	ENST00000261609	Transcript	missense_variant	5987/15337	5878/14505	1960/4834	T/S	Act/Tct		1		-1	HERC2	HGNC	HGNC:4868	protein_coding	YES	CCDS10021.1	ENSP00000261609	O95714		UPI00004578F7	NM_004667.5	tolerated(0.15)		38/93																			MODERATE	1	SNV	1			1										PASS		rs1300808716	.												A	3	1	90	28218639	28218639	T	A	1	0	0	0	0	1	0	0	0	6942	1696	59	4		4	HERC2	15	28218639	Missense_Mutation	SNP	T	C3N-02089_TP	3126331	28218639	73772550	770	29567											
FAM189A1	0	.	GRCh38	chr15	29137156	29137156	+	Frame_Shift_Del	DEL	G	G	-																															acggtgccgtgaggagtcacGcaggtggggttggcaggatg																								rs764555440		C3N-02089_TP	C3N-02089_NB	G	G																c.669delC	p.Cys223TrpfsTer2	p.C223Wfs*2	ENST00000261275	6/11	154	121	33	182	182	0	sindel-varindel-pindel	FAM189A1,frameshift_variant,p.Cys223TrpfsTer2,ENST00000261275,NM_015307.1;FAM189A1,non_coding_transcript_exon_variant,,ENST00000560021,;	-	ENST00000261275	Transcript	frameshift_variant	669/4705	669/1620	223/539	C/X	tgC/tg	rs764555440	1		-1	FAM189A1	HGNC	HGNC:29075	protein_coding	YES	CCDS45198.1	ENSP00000261275	O60320		UPI0001641C10	NM_015307.1			6/11		hmmpanther:PTHR17615,hmmpanther:PTHR17615:SF6																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	90	29137156	29137156	G	-	1	0	1	0	1	0	0	0	0	5367	1079	38	0		0	FAM189A1	15	29137156	Frame_Shift_Del	DEL	G	C3N-02089_TP	918517	29137156	72854033	771	29568											
FAN1	0	.	GRCh38	chr15	30905419	30905419	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggaatgtgagaaatcagcCctcacccctggattctcaga	11	8	10	12	1	3	2	3	1	1	2	4	5	3	4	3	2	1	0	3	2	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.756C>A	p.=	p.A252A	ENST00000362065	2/15	224	201	23	260	258	2	strelka-varscan-mutect	FAN1,synonymous_variant,p.=,ENST00000362065,NM_014967.4;FAN1,synonymous_variant,p.=,ENST00000561594,NM_001146095.1;FAN1,synonymous_variant,p.=,ENST00000561607,NM_001146094.1,NM_001146096.1;FAN1,synonymous_variant,p.=,ENST00000565466,;FAN1,intron_variant,,ENST00000562892,;FAN1,synonymous_variant,p.=,ENST00000565280,;	A	ENST00000362065	Transcript	synonymous_variant	1047/4891	756/3054	252/1017	A	gcC/gcA		1		1	FAN1	HGNC	HGNC:29170	protein_coding	YES	CCDS32186.1	ENSP00000354497	Q9Y2M0		UPI000006D713	NM_014967.4			2/15		hmmpanther:PTHR15749:SF4,hmmpanther:PTHR15749																	LOW	1	SNV	1			1										PASS		rs1401385961	.												A	2	1	90	30905419	30905419	C	A	1	0	0	0	0	0	0	0	1	5520	610	22	2		2	FAN1	15	30905419	Silent	SNP	C	C3N-02089_TP	1768263	30905419	71085770	772	29569											
RYR3	0	.	GRCh38	chr15	33633064	33633064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaatgcacacaatgtttggGcaaaagacagaataaaacaa	22	6	7	6	0	0	2	0	0	0	2	0	2	0	2	0	1	2	3	0	1	9	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2983G>T	p.Ala995Ser	p.A995S	ENST00000634891	24/104	147	120	27	154	154	0	strelka-varscan-mutect	RYR3,missense_variant,p.Ala995Ser,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Ala995Ser,ENST00000622037,;RYR3,missense_variant,p.Ala995Ser,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Ala995Ser,ENST00000389232,;RYR3,missense_variant,p.Ala995Ser,ENST00000634418,;RYR3,downstream_gene_variant,,ENST00000636753,;	T	ENST00000634891	Transcript	missense_variant	3084/15591	2983/14613	995/4870	A/S	Gca/Tca		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	deleterious(0.01)		24/104		Pfam_domain:PF02026,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	33633064	33633064	G	T	1	0	0	0	0	1	0	0	0	14030	1203	42	2		2	RYR3	15	33633064	Missense_Mutation	SNP	G	C3N-02089_TP	2727645	33633064	68358125	773	29570											
RYR3	0	.	GRCh38	chr15	33635747	33635747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagacatgcgagtcggctgGgcgaggccaggctgtcgacc	7	5	18	11	4	0	1	0	0	0	1	2	5	0	1	2	5	1	2	2	5	0	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.3309G>T	p.Trp1103Cys	p.W1103C	ENST00000634891	26/104	344	243	101	373	371	2	strelka-varscan-mutect	RYR3,missense_variant,p.Trp1103Cys,ENST00000634891,NM_001036.4;RYR3,missense_variant,p.Trp1103Cys,ENST00000622037,;RYR3,missense_variant,p.Trp1103Cys,ENST00000415757,NM_001243996.2;RYR3,missense_variant,p.Trp1103Cys,ENST00000389232,;RYR3,missense_variant,p.Trp1103Cys,ENST00000634418,;	T	ENST00000634891	Transcript	missense_variant	3410/15591	3309/14613	1103/4870	W/C	tgG/tgT		1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4	deleterious(0)		26/104		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	33635747	33635747	G	T	1	0	0	0	0	1	0	0	0	14030	1241	43	2		2	RYR3	15	33635747	Missense_Mutation	SNP	G	C3N-02089_TP	2683	33635747	68355442	774	29571											
PAK6	0	.	GRCh38	chr15	40266486	40266486	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagccaggccctccaccAcagagcaaggtaagtcagga	14	3	11	13	0	1	1	1	0	0	1	2	2	2	2	4	3	3	3	4	3	3	1	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.849A>T	p.=	p.P283P	ENST00000560346	5/11	41	36	5	41	41	0	strelka-varscan-mutect	PAK6,synonymous_variant,p.=,ENST00000455577,NM_001276718.1;PAK6,synonymous_variant,p.=,ENST00000560346,;PAK6,synonymous_variant,p.=,ENST00000260404,NM_020168.5;BUB1B-PAK6,synonymous_variant,p.=,ENST00000441369,NM_001128628.2;PAK6,synonymous_variant,p.=,ENST00000542403,NM_001128629.2,NM_001276717.1;PAK6,synonymous_variant,p.=,ENST00000560669,;PAK6,downstream_gene_variant,,ENST00000561230,;PAK6,downstream_gene_variant,,ENST00000559617,;PAK6,downstream_gene_variant,,ENST00000559139,;PAK6,downstream_gene_variant,,ENST00000560684,;PAK6,downstream_gene_variant,,ENST00000558055,;PAK6,downstream_gene_variant,,ENST00000560806,;PAK6,downstream_gene_variant,,ENST00000558106,;PAK6,downstream_gene_variant,,ENST00000558878,;PAK6,downstream_gene_variant,,ENST00000558183,;PAK6,non_coding_transcript_exon_variant,,ENST00000559901,;PAK6,upstream_gene_variant,,ENST00000557926,;BUB1B-PAK6,3_prime_UTR_variant,,ENST00000558658,;BUB1B-PAK6,3_prime_UTR_variant,,ENST00000453867,;BUB1B-PAK6,downstream_gene_variant,,ENST00000559435,;	T	ENST00000560346	Transcript	synonymous_variant	1432/4020	849/2046	283/681	P	ccA/ccT		1		1	PAK6	HGNC	HGNC:16061	protein_coding	YES	CCDS10054.1	ENSP00000453858	Q9NQU5	A0A024R9Q4	UPI0000001C3B				5/11		Low_complexity_(Seg):seg,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF182,Gene3D:3.30.200.20																	LOW		SNV	5			1										PASS		.	.												T	2	4	90	40266486	40266486	A	T	1	0	0	0	0	0	0	0	1	11484	146	6	4		4	PAK6	15	40266486	Silent	SNP	A	C3N-02089_TP	6630739	40266486	61724703	775	29572											
PAK6	0	.	GRCh38	chr15	40273353	40273353	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctgtccaggctgaatGaggagcagattgccactgtg	8	10	12	11	0	0	3	0	2	0	1	2	4	2	4	4	2	2	2	4	2	1	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1498G>T	p.Glu500Ter	p.E500*	ENST00000560346	8/11	96	66	30	108	108	0	strelka-varscan-mutect	PAK6,stop_gained,p.Glu500Ter,ENST00000455577,NM_001276718.1;PAK6,stop_gained,p.Glu500Ter,ENST00000560346,;PAK6,stop_gained,p.Glu500Ter,ENST00000260404,NM_020168.5;BUB1B-PAK6,stop_gained,p.Glu500Ter,ENST00000441369,NM_001128628.2;PAK6,stop_gained,p.Glu500Ter,ENST00000542403,NM_001128629.2,NM_001276717.1;PAK6,downstream_gene_variant,,ENST00000557926,;BUB1B-PAK6,3_prime_UTR_variant,,ENST00000558658,;BUB1B-PAK6,3_prime_UTR_variant,,ENST00000453867,;PAK6,upstream_gene_variant,,ENST00000557808,;PLCB2,downstream_gene_variant,,ENST00000560009,;	T	ENST00000560346	Transcript	stop_gained	2081/4020	1498/2046	500/681	E/*	Gag/Tag		1		1	PAK6	HGNC	HGNC:16061	protein_coding	YES	CCDS10054.1	ENSP00000453858	Q9NQU5	A0A024R9Q4	UPI0000001C3B				8/11		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF182,Gene3D:3.30.200.20,Pfam_domain:PF00069,Superfamily_domains:SSF56112																	HIGH		SNV	5			1										PASS		rs1293198742	.												T	4	4	90	40273353	40273353	G	T	1	0	0	0	0	0	1	0	0	11484	1291	45	2		2	PAK6	15	40273353	Nonsense_Mutation	SNP	G	C3N-02089_TP	6867	40273353	61717836	776	29573											
STARD9	0	.	GRCh38	chr15	42689228	42689228	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcatccatgtgcctggcCatcttggaggagatcagaca	10	9	11	11	0	2	2	1	0	1	2	3	4	3	3	3	3	2	1	3	3	0	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.7650C>A	p.=	p.A2550A	ENST00000290607	23/33	236	163	73	244	243	1	strelka-varscan-mutect	STARD9,synonymous_variant,p.=,ENST00000290607,NM_020759.2;STARD9,upstream_gene_variant,,ENST00000562619,;	A	ENST00000290607	Transcript	synonymous_variant	7707/15567	7650/14103	2550/4700	A	gcC/gcA		1		1	STARD9	HGNC	HGNC:19162	protein_coding	YES	CCDS53935.1	ENSP00000290607	Q9P2P6		UPI0001BE8155	NM_020759.2			23/33																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	90	42689228	42689228	C	A	1	0	0	0	0	0	0	0	1	15639	581	21	2		2	STARD9	15	42689228	Silent	SNP	C	C3N-02089_TP	2415875	42689228	59301961	777	29574											
TGM5	0	.	GRCh38	chr15	43253557	43253557	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttccccgcagagcacaGtctgtggctgggtcagtctg	5	9	15	12	1	3	1	1	0	2	1	4	1	4	1	2	3	1	4	2	3	0	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.633C>G	p.Asp211Glu	p.D211E	ENST00000220420	5/13	418	303	115	409	409	0	strelka-varscan-mutect	TGM5,missense_variant,p.Asp211Glu,ENST00000220420,NM_201631.3;TGM5,missense_variant,p.Asp210Glu,ENST00000610827,;TGM5,missense_variant,p.Asp128Glu,ENST00000611276,;TGM5,missense_variant,p.Asp212Glu,ENST00000622115,;TGM5,missense_variant,p.Asp129Glu,ENST00000349114,NM_004245.3;TGM5,non_coding_transcript_exon_variant,,ENST00000635871,;	C	ENST00000220420	Transcript	missense_variant	641/2767	633/2163	211/720	D/E	gaC/gaG		1		-1	TGM5	HGNC	HGNC:11781	protein_coding	YES	CCDS32212.1	ENSP00000220420	O43548		UPI0000136CCF	NM_201631.3	deleterious(0)		5/13		Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF38,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	43253557	43253557	G	C	1	0	0	0	0	1	0	0	0	16266	1020	36	4		4	TGM5	15	43253557	Missense_Mutation	SNP	G	C3N-02089_TP	564329	43253557	58737632	778	29575											
CKMT1B	0	.	GRCh38	chr15	43599224	43599224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtgaacggcgtctggagaGaggccaggatatccgcatcc	9	8	14	10	3	1	2	0	1	1	1	3	5	3	4	3	4	1	1	3	4	2	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1205G>C	p.Arg402Thr	p.R402T	ENST00000300283	10/10	149	125	24	148	148	0	strelka-varscan-mutect	CKMT1B,missense_variant,p.Arg402Thr,ENST00000300283,NM_020990.3;CKMT1B,missense_variant,p.Arg402Thr,ENST00000441322,;STRC,downstream_gene_variant,,ENST00000450892,NM_153700.2;STRC,downstream_gene_variant,,ENST00000541030,;CKMT1B,downstream_gene_variant,,ENST00000453782,;CKMT1B,downstream_gene_variant,,ENST00000627381,;CKMT1B,downstream_gene_variant,,ENST00000453733,;CKMT1B,downstream_gene_variant,,ENST00000437924,;CKMT1B,downstream_gene_variant,,ENST00000417289,;CKMT1B,downstream_gene_variant,,ENST00000449946,;RNU6-554P,upstream_gene_variant,,ENST00000410466,;CKMT1B,downstream_gene_variant,,ENST00000481666,;CKMT1B,downstream_gene_variant,,ENST00000498538,;CKMT1B,downstream_gene_variant,,ENST00000495545,;CKMT1B,upstream_gene_variant,,ENST00000411560,;CKMT1B,3_prime_UTR_variant,,ENST00000437534,;STRC,downstream_gene_variant,,ENST00000428650,;STRC,downstream_gene_variant,,ENST00000440125,;STRC,downstream_gene_variant,,ENST00000485556,;STRC,downstream_gene_variant,,ENST00000471703,;STRC,downstream_gene_variant,,ENST00000448437,;CKMT1B,downstream_gene_variant,,ENST00000475589,;CKMT1B,downstream_gene_variant,,ENST00000428981,;STRC,downstream_gene_variant,,ENST00000460952,;STRC,downstream_gene_variant,,ENST00000493750,;	C	ENST00000300283	Transcript	missense_variant	1597/1779	1205/1254	402/417	R/T	aGa/aCa		1		1	CKMT1B	HGNC	HGNC:1995	protein_coding	YES	CCDS10097.1	ENSP00000300283	P12532		UPI000012DCCE	NM_020990.3	deleterious(0.03)		10/10		hmmpanther:PTHR11547,hmmpanther:PTHR11547:SF24,Superfamily_domains:SSF55931																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	90	43599224	43599224	G	C	1	0	0	0	0	1	0	0	0	3213	942	33	4		4	CKMT1B	15	43599224	Missense_Mutation	SNP	G	C3N-02089_TP	345667	43599224	58391965	779	29576											
EIF3J	0	.	GRCh38	chr15	44551516	44551516	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaggcaagaagaaattaaAaagagggtaaattctgtttt	20	10	9	2	0	1	3	0	0	1	3	1	3	1	3	0	2	0	3	0	2	10	5	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.288A>C	p.Lys96Asn	p.K96N	ENST00000261868	4/8	94	77	17	114	114	0	strelka-varscan-mutect	EIF3J,missense_variant,p.Lys96Asn,ENST00000261868,NM_003758.3;EIF3J,missense_variant,p.Lys96Asn,ENST00000535391,NM_001284335.1;EIF3J,intron_variant,,ENST00000424492,NM_001284336.1;EIF3J,upstream_gene_variant,,ENST00000536248,;EIF3J,non_coding_transcript_exon_variant,,ENST00000558053,;EIF3J,non_coding_transcript_exon_variant,,ENST00000558227,;	C	ENST00000261868	Transcript	missense_variant	426/2569	288/777	96/258	K/N	aaA/aaC		1		1	EIF3J	HGNC	HGNC:3270	protein_coding	YES	CCDS10111.1	ENSP00000261868	O75822	A0A024R5S5	UPI000012D2F9	NM_003758.3	tolerated(0.06)		4/8		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,HAMAP:MF_03009,hmmpanther:PTHR21681,Pfam_domain:PF08597																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	44551516	44551516	A	C	1	0	0	0	0	1	0	0	0	4854	11	1	5		5	EIF3J	15	44551516	Missense_Mutation	SNP	A	C3N-02089_TP	952292	44551516	57439673	780	29577											
SLC12A1	0	.	GRCh38	chr15	48269687	48269687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaggaagaatgaaaccaaaCactctggtgattggatataa	17	10	9	5	0	1	3	0	2	1	1	1	5	1	5	1	3	2	0	1	3	7	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2325C>A	p.Asn775Lys	p.N775K	ENST00000396577	19/27	135	109	26	160	160	0	strelka-varscan-mutect	SLC12A1,missense_variant,p.Asn775Lys,ENST00000396577,NM_001184832.1;SLC12A1,missense_variant,p.Asn775Lys,ENST00000380993,NM_000338.2;SLC12A1,missense_variant,p.Asn775Lys,ENST00000558405,;SLC12A1,missense_variant,p.Asn588Lys,ENST00000559641,;SLC12A1,non_coding_transcript_exon_variant,,ENST00000560692,;SLC12A1,non_coding_transcript_exon_variant,,ENST00000558252,;	A	ENST00000396577	Transcript	missense_variant	2540/4708	2325/3300	775/1099	N/K	aaC/aaA		1		1	SLC12A1	HGNC	HGNC:10910	protein_coding	YES	CCDS53940.1	ENSP00000379822	Q13621		UPI000013C794	NM_001184832.1	deleterious(0)		19/27		hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF45,TIGRFAM_domain:TIGR00930,Pfam_domain:PF03522																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	48269687	48269687	C	A	1	0	0	0	0	1	0	0	0	14647	477	17	2		2	SLC12A1	15	48269687	Missense_Mutation	SNP	C	C3N-02089_TP	3718171	48269687	53721502	781	29578											
TNFAIP8L3	0	.	GRCh38	chr15	51058021	51058021	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacgtggttgatgcgccCgtgggtcctgggcgtcaggt	6	9	17	9	4	1	2	1	1	0	1	2	2	2	2	2	4	1	1	2	4	1	1	rs200106121		C3N-02089_TP	C3N-02089_NB	C	C																c.739G>C	p.Gly247Arg	p.G247R	ENST00000327536	3/3	156	134	22	172	172	0	strelka-varscan-mutect	TNFAIP8L3,missense_variant,p.Gly247Arg,ENST00000327536,NM_207381.3;TNFAIP8L3,missense_variant,p.Gly159Arg,ENST00000637513,NM_001311175.1;RP11-108K3.1,intron_variant,,ENST00000559909,;	G	ENST00000327536	Transcript	missense_variant	839/2262	739/879	247/292	G/R	Ggg/Cgg	rs200106121	1		-1	TNFAIP8L3	HGNC	HGNC:20620	protein_coding	YES	CCDS32241.1	ENSP00000328016	Q5GJ75		UPI00004C7A8B	NM_207381.3	deleterious(0.03)		3/3		Pfam_domain:PF05527,hmmpanther:PTHR12757,hmmpanther:PTHR12757:SF5																	MODERATE	1	SNV	1			1										PASS		rs200106121	.												G	3	3	90	51058021	51058021	C	G	1	0	0	0	0	1	0	0	0	16753	652	23	4		4	TNFAIP8L3	15	51058021	Missense_Mutation	SNP	C	C3N-02089_TP	2788334	51058021	50933168	782	29579											
LEO1	0	.	GRCh38	chr15	51949814	51949815	+	Frame_Shift_Ins	INS	-	-	A																															atacacgactcacctcgaatINSgccccctttatatcggtttt																								novel		C3N-02089_TP	C3N-02089_NB	-	-																c.1791_1792insT	p.Ile598TyrfsTer14	p.I598Yfs*14	ENST00000299601	10/12	86	75	11	102	102	0	sindel-varindel-pindel	LEO1,frameshift_variant,p.Ile598TyrfsTer14,ENST00000299601,NM_001323904.1,NM_138792.3;LEO1,frameshift_variant,p.Ile538TyrfsTer14,ENST00000315141,NM_001286430.1;MAPK6,upstream_gene_variant,,ENST00000560802,;TMOD3,downstream_gene_variant,,ENST00000558714,;TMOD3,downstream_gene_variant,,ENST00000561408,;TMOD3,downstream_gene_variant,,ENST00000558300,;TMOD3,downstream_gene_variant,,ENST00000559202,;LEO1,downstream_gene_variant,,ENST00000558949,;	A	ENST00000299601	Transcript	frameshift_variant	1852-1853/2193	1791-1792/2001	597-598/666	-/X	-/T		1		-1	LEO1	HGNC	HGNC:30401	protein_coding	YES	CCDS10146.1	ENSP00000299601	Q8WVC0		UPI0000071CA0	NM_001323904.1,NM_138792.3			10/12		hmmpanther:PTHR23146:SF0,hmmpanther:PTHR23146																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	90	51949814	51949814	-	A	1	0	1	1	0	0	0	0	0	8634	1464	51	0		0	LEO1	15	51949814	Frame_Shift_Ins	INS	-	C3N-02089_TP	891793	51949814	50041375	783	29580											
LEO1	0	.	GRCh38	chr15	51958755	51958755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtacctttaattttaacCtggttctaccttcttcatcc	8	18	4	11	0	3	0	1	0	2	0	4	0	4	0	4	2	3	2	4	2	4	9	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1232G>A	p.Arg411Lys	p.R411K	ENST00000299601	6/12	125	109	16	202	202	0	strelka-varscan-mutect	LEO1,missense_variant,p.Arg411Lys,ENST00000299601,NM_001323904.1,NM_138792.3;LEO1,intron_variant,,ENST00000315141,NM_001286430.1;MAPK6,intron_variant,,ENST00000560802,;LEO1,upstream_gene_variant,,ENST00000558949,;	T	ENST00000299601	Transcript	missense_variant	1293/2193	1232/2001	411/666	R/K	aGg/aAg		1		-1	LEO1	HGNC	HGNC:30401	protein_coding	YES	CCDS10146.1	ENSP00000299601	Q8WVC0		UPI0000071CA0	NM_001323904.1,NM_138792.3	tolerated(0.06)		6/12		hmmpanther:PTHR23146:SF0,hmmpanther:PTHR23146,Pfam_domain:PF04004																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	51958755	51958755	C	T	1	0	0	0	0	1	0	0	0	8634	681	24	3		3	LEO1	15	51958755	Missense_Mutation	SNP	C	C3N-02089_TP	8941	51958755	50032434	784	29581											
RFX7	0	.	GRCh38	chr15	56094152	56094152	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttccaaagggggtcacAttagatcgtgggatattaga	12	10	13	6	1	1	2	1	0	0	2	3	4	2	4	1	4	0	0	1	4	4	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.3285T>G	p.Asn1095Lys	p.N1095K	ENST00000559447	9/9	204	175	29	235	235	0	strelka-varscan-mutect	RFX7,missense_variant,p.Asn1095Lys,ENST00000559447,NM_022841.5;RFX7,missense_variant,p.Asn1095Lys,ENST00000559847,;	C	ENST00000559447	Transcript	missense_variant	3557/10426	3285/4092	1095/1363	N/K	aaT/aaG		1		-1	RFX7	HGNC	HGNC:25777	protein_coding	YES		ENSP00000453281	Q2KHR2		UPI0000695D7E	NM_022841.5	tolerated(0.1)		9/9		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	90	56094152	56094152	A	C	1	0	0	0	0	1	0	0	0	13442	214	8	5		5	RFX7	15	56094152	Missense_Mutation	SNP	A	C3N-02089_TP	4135397	56094152	45897037	785	29582											
IGDCC3	0	.	GRCh38	chr15	65329544	65329544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagggtccctctggctcCggggaccctgtggaggggac	4	7	17	13	1	1	0	0	0	1	0	3	3	3	3	4	7	1	1	4	7	0	0	rs766501573		C3N-02089_TP	C3N-02089_NB	C	C																c.2051G>A	p.Arg684Gln	p.R684Q	ENST00000327987	13/14	105	81	24	126	126	0	strelka-mutect	IGDCC3,missense_variant,p.Arg684Gln,ENST00000327987,NM_004884.3;IGDCC3,downstream_gene_variant,,ENST00000558354,;IGDCC3,downstream_gene_variant,,ENST00000559231,;	T	ENST00000327987	Transcript	missense_variant	2303/4479	2051/2445	684/814	R/Q	cGg/cAg	rs766501573	1		-1	IGDCC3	HGNC	HGNC:9700	protein_coding	YES	CCDS10205.1	ENSP00000332773	Q8IVU1		UPI000019908F	NM_004884.3	tolerated_low_confidence(0.14)		13/14																			MODERATE	1	SNV	1			1										PASS		rs766501573	.												T	3	4	90	65329544	65329544	C	T	1	0	0	0	0	1	0	0	0	7474	652	23	1		1	IGDCC3	15	65329544	Missense_Mutation	SNP	C	C3N-02089_TP	9235392	65329544	36661645	786	29583											
IGDCC4	0	.	GRCh38	chr15	65384990	65384990	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagagcctgcagcaacagCgtctgcccagttccagcagg	10	5	11	15	1	1	1	0	0	1	1	2	1	2	1	4	1	7	4	4	1	1	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.3306G>A	p.=	p.T1102T	ENST00000352385	19/20	95	75	20	104	104	0	strelka-varscan-mutect	IGDCC4,synonymous_variant,p.=,ENST00000352385,NM_020962.2;IGDCC4,non_coding_transcript_exon_variant,,ENST00000558048,;IGDCC4,non_coding_transcript_exon_variant,,ENST00000559327,;IGDCC4,non_coding_transcript_exon_variant,,ENST00000561309,;IGDCC4,downstream_gene_variant,,ENST00000560319,;	T	ENST00000352385	Transcript	synonymous_variant	3516/6508	3306/3753	1102/1250	T	acG/acA		1		-1	IGDCC4	HGNC	HGNC:13770	protein_coding	YES	CCDS10206.1	ENSP00000319623	Q8TDY8		UPI000006F31C	NM_020962.2			19/20		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF40																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	65384990	65384990	C	T	1	0	0	0	0	0	0	0	1	7475	755	27	1		1	IGDCC4	15	65384990	Silent	SNP	C	C3N-02089_TP	55446	65384990	36606199	787	29584											
HCN4	0	.	GRCh38	chr15	73323558	73323558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgtgtccacctgggacggGctgctggcgggcgaggcgga	4	6	21	10	4	0	0	0	0	0	0	1	3	1	2	2	7	1	2	2	7	0	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2535C>G	p.Ser845Arg	p.S845R	ENST00000261917	8/8	161	146	15	124	124	0	strelka-mutect	HCN4,missense_variant,p.Ser845Arg,ENST00000261917,NM_005477.2;	C	ENST00000261917	Transcript	missense_variant	3529/7228	2535/3612	845/1203	S/R	agC/agG		1		-1	HCN4	HGNC	HGNC:16882	protein_coding	YES	CCDS10248.1	ENSP00000261917	Q9Y3Q4		UPI000003FFB5	NM_005477.2	tolerated_low_confidence(0.05)		8/8		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	73323558	73323558	G	C	1	0	0	0	0	1	0	0	0	6886	1194	42	4		4	HCN4	15	73323558	Missense_Mutation	SNP	G	C3N-02089_TP	7938568	73323558	28667631	788	29585											
TBC1D21	0	.	GRCh38	chr15	73884845	73884845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcctcatcgacaagaagagGctagagaagatcctgctcct	12	8	10	11	1	1	4	1	0	0	4	5	6	4	4	3	1	1	2	3	1	4	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.432G>T	p.Arg144Ser	p.R144S	ENST00000300504	5/11	174	130	44	207	207	0	strelka-varscan-mutect	TBC1D21,missense_variant,p.Arg144Ser,ENST00000300504,NM_153356.2;TBC1D21,missense_variant,p.Arg108Ser,ENST00000535547,NM_001286434.1;TBC1D21,intron_variant,,ENST00000562056,;	T	ENST00000300504	Transcript	missense_variant	515/1207	432/1011	144/336	R/S	agG/agT		1		1	TBC1D21	HGNC	HGNC:28536	protein_coding	YES	CCDS10252.1	ENSP00000300504	Q8IYX1		UPI00000741CB	NM_153356.2	tolerated(0.1)		5/11		PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF278,hmmpanther:PTHR22957,Gene3D:2qq8A02,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	73884845	73884845	G	T	1	0	0	0	0	1	0	0	0	16010	1194	42	2		2	TBC1D21	15	73884845	Missense_Mutation	SNP	G	C3N-02089_TP	561287	73884845	28106344	789	29586											
HYKK	0	.	GRCh38	chr15	78533248	78533248	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaatgaccataatattttaAtagagtccagcaagtcagcc	15	12	6	8	0	1	2	1	1	0	1	2	2	2	2	3	0	2	1	3	0	6	6	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.700A>G	p.Ile234Val	p.I234V	ENST00000569878	4/4	166	109	57	133	133	0	strelka-varscan-mutect	HYKK,missense_variant,p.Ile234Val,ENST00000569878,;HYKK,missense_variant,p.Ile234Val,ENST00000388988,NM_001013619.2;HYKK,intron_variant,,ENST00000408962,NM_001083612.1;HYKK,intron_variant,,ENST00000563233,;HYKK,downstream_gene_variant,,ENST00000566332,;RP11-650L12.4,upstream_gene_variant,,ENST00000623556,;HYKK,downstream_gene_variant,,ENST00000566289,;	G	ENST00000569878	Transcript	missense_variant	700/4097	700/1122	234/373	I/V	Ata/Gta		1		1	HYKK	HGNC	HGNC:34403	protein_coding	YES	CCDS42063.1	ENSP00000455459	A2RU49		UPI0000366A7F		tolerated(1)		4/4		Gene3D:3.90.1200.10,Pfam_domain:PF01636,hmmpanther:PTHR21064,hmmpanther:PTHR21064:SF1,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	90	78533248	78533248	A	G	1	0	0	0	0	1	0	0	0	7365	101	4	5		5	HYKK	15	78533248	Missense_Mutation	SNP	A	C3N-02089_TP	4648403	78533248	23457941	790	29587											
PSMA4	0	.	GRCh38	chr15	78548903	78548903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaagaagccaaagctgagCgtgagaagaaagaaaaagaa	23	2	12	4	1	0	7	0	2	0	6	0	8	0	7	1	0	3	1	1	0	9	0	rs751350183		C3N-02089_TP	C3N-02089_NB	C	C																c.745C>T	p.Arg249Cys	p.R249C	ENST00000044462	9/9	178	168	10	148	148	0	strelka-varscan-mutect	PSMA4,missense_variant,p.Arg249Cys,ENST00000044462,;PSMA4,missense_variant,p.Arg249Cys,ENST00000559082,NM_001102667.1,NM_002789.4;PSMA4,missense_variant,p.Arg178Cys,ENST00000413382,NM_001102668.1;PSMA4,missense_variant,p.Arg218Cys,ENST00000560217,;PSMA4,3_prime_UTR_variant,,ENST00000558281,;PSMA4,3_prime_UTR_variant,,ENST00000558341,;PSMA4,3_prime_UTR_variant,,ENST00000558094,;PSMA4,downstream_gene_variant,,ENST00000560737,;PSMA4,downstream_gene_variant,,ENST00000559365,;PSMA4,downstream_gene_variant,,ENST00000559437,;PSMA4,downstream_gene_variant,,ENST00000559948,;PSMA4,downstream_gene_variant,,ENST00000559146,;PSMA4,downstream_gene_variant,,ENST00000559154,;PSMA4,downstream_gene_variant,,ENST00000557929,;PSMA4,downstream_gene_variant,,ENST00000559906,;PSMA4,non_coding_transcript_exon_variant,,ENST00000559934,;PSMA4,non_coding_transcript_exon_variant,,ENST00000560099,;PSMA4,downstream_gene_variant,,ENST00000558639,;	T	ENST00000044462	Transcript	missense_variant	895/4411	745/786	249/261	R/C	Cgt/Tgt	rs751350183,COSM269960	1		1	PSMA4	HGNC	HGNC:9533	protein_coding	YES	CCDS10303.1	ENSP00000044462	P25789		UPI000000DC2A		deleterious(0.04)		9/9		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs751350183	.												T	3	4	90	78548903	78548903	C	T	1	0	0	0	0	1	0	0	0	12820	768	27	1		1	PSMA4	15	78548903	Missense_Mutation	SNP	C	C3N-02089_TP	15655	78548903	23442286	791	29588											
CHRNA3	0	.	GRCh38	chr15	78602030	78602030	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgatggcccactcgccGctctcccaatagtccttgag	7	11	9	14	2	1	3	0	3	1	0	4	3	2	3	4	1	0	1	4	1	2	3	rs757145934		C3N-02089_TP	C3N-02089_NB	G	G																c.612C>G	p.Ser204Arg	p.S204R	ENST00000326828	5/6	123	99	24	112	112	0	strelka-varscan-mutect	CHRNA3,missense_variant,p.Ser204Arg,ENST00000326828,NM_000743.4;CHRNA3,missense_variant,p.Ser204Arg,ENST00000348639,NM_001166694.1;CHRNA3,non_coding_transcript_exon_variant,,ENST00000558903,;RP11-335K5.3,upstream_gene_variant,,ENST00000624172,;CHRNA3,missense_variant,p.Ser204Arg,ENST00000559658,;	C	ENST00000326828	Transcript	missense_variant	997/3202	612/1518	204/505	S/R	agC/agG	rs757145934,COSM376466	1		-1	CHRNA3	HGNC	HGNC:1957	protein_coding	YES	CCDS10305.1	ENSP00000315602	P32297		UPI000013D783	NM_000743.4	deleterious(0)		5/6		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF445,Pfam_domain:PF02931,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs757145934	.												C	3	2	90	78602030	78602030	G	C	1	0	0	0	0	1	0	0	0	3144	1078	38	4		4	CHRNA3	15	78602030	Missense_Mutation	SNP	G	C3N-02089_TP	53127	78602030	23389159	792	29589											
MORF4L1	0	.	GRCh38	chr15	78840591	78840591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccatcctcaagtgactGatgctcttggaagatactcc	9	11	7	14	0	2	3	1	2	1	1	5	4	5	4	4	1	2	1	4	1	3	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.31G>T	p.Asp11Tyr	p.D11Y	ENST00000379535	2/13	216	180	36	153	153	0	strelka-varscan-mutect	MORF4L1,missense_variant,p.Asp11Tyr,ENST00000379535,;	T	ENST00000379535	Transcript	missense_variant	595/2274	31/1047	11/348	D/Y	Gat/Tat		1		1	MORF4L1	HGNC	HGNC:16989	protein_coding			ENSP00000368850		B3KTM8	UPI00001FE9BB		deleterious_low_confidence(0)		2/13																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	90	78840591	78840591	G	T	1	0	0	0	0	1	0	0	0	9669	1290	45	2		2	MORF4L1	15	78840591	Missense_Mutation	SNP	G	C3N-02089_TP	238561	78840591	23150598	793	29590											
BCL2A1	0	.	GRCh38	chr15	79970897	79970897	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcaaactccttttccaTcacttggttgaatagtgttc	8	17	6	10	0	3	1	2	1	1	0	6	1	5	1	2	1	1	2	2	1	3	7	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.223A>C	p.Met75Leu	p.M75L	ENST00000267953	1/2	369	297	72	263	261	2	strelka-varscan-mutect	BCL2A1,missense_variant,p.Met75Leu,ENST00000267953,NM_004049.3;BCL2A1,missense_variant,p.Met75Leu,ENST00000335661,NM_001114735.1;	G	ENST00000267953	Transcript	missense_variant	550/1033	223/528	75/175	M/L	Atg/Ctg		1		-1	BCL2A1	HGNC	HGNC:991	protein_coding	YES	CCDS10312.1	ENSP00000267953	Q16548		UPI00001268AE	NM_004049.3	deleterious(0.02)		1/2		PROSITE_profiles:PS50062,hmmpanther:PTHR11256,hmmpanther:PTHR11256:SF10,Pfam_domain:PF00452,Gene3D:1.10.437.10,SMART_domains:SM00337,Superfamily_domains:SSF56854,Prints_domain:PR01862,Prints_domain:PR01867																	MODERATE	1	SNV	1			1										PASS		rs1199987311	.												G	3	3	90	79970897	79970897	T	G	1	0	0	0	0	1	0	0	0	1513	1435	50	5		5	BCL2A1	15	79970897	Missense_Mutation	SNP	T	C3N-02089_TP	1130306	79970897	22020292	794	29591											
MESDC1	0	.	GRCh38	chr15	81002532	81002532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatcatcgcgcgcaccaaGgggctctccatcctcaccca	9	6	7	19	3	3	0	2	0	1	0	6	0	4	0	5	2	0	2	5	2	1	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.261G>T	p.Lys87Asn	p.K87N	ENST00000267984	1/1	27	20	7	24	24	0	strelka-mutect	MESDC1,missense_variant,p.Lys87Asn,ENST00000267984,NM_022566.2;CFAP161,upstream_gene_variant,,ENST00000560091,;RP11-775C24.5,upstream_gene_variant,,ENST00000620635,;	T	ENST00000267984	Transcript	missense_variant	1589/4845	261/1089	87/362	K/N	aaG/aaT		1		1	MESDC1	HGNC	HGNC:13519	protein_coding	YES	CCDS10316.1	ENSP00000267984	Q9H1K6		UPI000012EE04	NM_022566.2	deleterious(0)		1/1		hmmpanther:PTHR19981																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	90	81002532	81002532	G	T	1	0	0	0	0	1	0	0	0	9425	991	35	2		2	MESDC1	15	81002532	Missense_Mutation	SNP	G	C3N-02089_TP	1031635	81002532	20988657	795	29592											
IL16	0	.	GRCh38	chr15	81300379	81300379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcccagactccctgcatccCcaaggaaggggcatctccaa	10	6	9	16	0	1	1	0	0	1	1	4	2	3	2	5	3	2	2	5	3	3	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.3053C>A	p.Pro1018His	p.P1018H	ENST00000302987	13/18	415	349	66	271	271	0	strelka-varscan-mutect	IL16,missense_variant,p.Pro1018His,ENST00000394660,NM_001172128.1;IL16,missense_variant,p.Pro1018His,ENST00000302987,NM_172217.3;IL16,missense_variant,p.Pro317His,ENST00000394652,NM_004513.5;IL16,missense_variant,p.Pro322His,ENST00000558332,;RP11-761I4.4,downstream_gene_variant,,ENST00000607019,;IL16,downstream_gene_variant,,ENST00000560230,;IL16,upstream_gene_variant,,ENST00000559342,;IL16,3_prime_UTR_variant,,ENST00000360547,;IL16,3_prime_UTR_variant,,ENST00000560115,;IL16,3_prime_UTR_variant,,ENST00000558857,;	A	ENST00000302987	Transcript	missense_variant	3053/3999	3053/3999	1018/1332	P/H	cCc/cAc		1		1	IL16	HGNC	HGNC:5980	protein_coding	YES	CCDS42069.1	ENSP00000302935	Q14005		UPI0000229CE7	NM_172217.3	deleterious(0)		13/18		hmmpanther:PTHR11324:SF2,hmmpanther:PTHR11324																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	81300379	81300379	C	A	1	0	0	0	0	1	0	0	0	7541	623	22	2		2	IL16	15	81300379	Missense_Mutation	SNP	C	C3N-02089_TP	297847	81300379	20690810	796	29593											
GOLGA6L9	0	.	GRCh38	chr15	82434057	82434057	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacccctggccccacagcccCcagcagggccatctaagatg	10	4	9	18	0	1	1	0	0	1	1	1	1	1	1	7	2	3	1	7	2	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.457C>G	p.Pro153Ala	p.P153A	ENST00000618348	6/9	297	247	50	222	222	0	strelka-varscan-mutect	GOLGA6L9,missense_variant,p.Pro153Ala,ENST00000618348,NM_198181.3;RP11-152F13.8,non_coding_transcript_exon_variant,,ENST00000613086,;GOLGA6L9,non_coding_transcript_exon_variant,,ENST00000618706,;GOLGA6L9,downstream_gene_variant,,ENST00000558668,;	G	ENST00000618348	Transcript	missense_variant	517/1710	457/1299	153/432	P/A	Cca/Gca		1		1	GOLGA6L9	HGNC	HGNC:37229	protein_coding	YES	CCDS45326.1	ENSP00000481078	A6NEM1		UPI000442D01A	NM_198181.3	tolerated(0.1)		6/9		Pfam_domain:PF15070,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF12																	MODERATE	1	SNV	5			1										PASS		rs1335888645	.												G	3	3	90	82434057	82434057	C	G	1	0	0	0	0	1	0	0	0	6444	623	22	4		4	GOLGA6L9	15	82434057	Missense_Mutation	SNP	C	C3N-02089_TP	1133678	82434057	19557132	797	29594											
RPS17	0	.	GRCh38	chr15	82540099	82540099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttttctatgatgacccgggCcgccttcttcacggttttgg	4	15	10	12	3	3	2	1	2	2	0	3	2	3	2	3	3	0	1	3	3	1	7	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.37G>T	p.Ala13Ser	p.A13S	ENST00000330244	2/5	790	540	250	454	454	0	strelka-varscan-mutect	RPS17,missense_variant,p.Ala13Ser,ENST00000561157,;RP11-152F13.10,missense_variant,p.Ala272Ser,ENST00000562833,;RPS17,missense_variant,p.Ala13Ser,ENST00000330244,NM_001021.4;CPEB1,downstream_gene_variant,,ENST00000614918,;CPEB1,downstream_gene_variant,,ENST00000611031,;CPEB1,downstream_gene_variant,,ENST00000617958,;CPEB1,downstream_gene_variant,,ENST00000618449,NM_001079533.1;CPEB1,downstream_gene_variant,,ENST00000620182,NM_001288819.1;CPEB1,downstream_gene_variant,,ENST00000617522,;CPEB1,downstream_gene_variant,,ENST00000615198,NM_030594.4;CPEB1,downstream_gene_variant,,ENST00000617462,NM_001079535.1;CPEB1,downstream_gene_variant,,ENST00000616959,;CPEB1,downstream_gene_variant,,ENST00000611163,NM_001079534.1,NM_001288820.1;RP11-379H8.1,upstream_gene_variant,,ENST00000621893,;RPS17,missense_variant,p.Ala13Ser,ENST00000558397,;RPS17,missense_variant,p.Ala12Ser,ENST00000561068,;RPS17,non_coding_transcript_exon_variant,,ENST00000561440,;RPS17,non_coding_transcript_exon_variant,,ENST00000560612,;RPS17,non_coding_transcript_exon_variant,,ENST00000560639,;RPS17,non_coding_transcript_exon_variant,,ENST00000560229,;RPS17,non_coding_transcript_exon_variant,,ENST00000559776,;RPS17,non_coding_transcript_exon_variant,,ENST00000559273,;CPEB1,downstream_gene_variant,,ENST00000618698,;CPEB1,downstream_gene_variant,,ENST00000614977,;	A	ENST00000330244	Transcript	missense_variant	173/592	37/408	13/135	A/S	Gcc/Tcc		1		-1	RPS17	HGNC	HGNC:10397	protein_coding	YES	CCDS10320.1	ENSP00000346046	P08708		UPI0000167B0C	NM_001021.4	tolerated(0.55)		2/5		HAMAP:MF_00511,hmmpanther:PTHR10732,Gene3D:1rq6A00,Pfam_domain:PF00833,Superfamily_domains:0049231																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	82540099	82540099	C	A	1	0	0	0	0	1	0	0	0	13882	739	26	2		2	RPS17	15	82540099	Missense_Mutation	SNP	C	C3N-02089_TP	106042	82540099	19451090	798	29595											
SEC11A	0	.	GRCh38	chr15	84670052	84670053	+	Frame_Shift_Ins	INS	-	-	A																															ccagcacgaataaacccagcINSaaaaagagaactgcatacta																								novel		C3N-02089_TP	C3N-02089_NB	-	-																c.448dupT	p.Cys150LeufsTer12	p.C150Lfs*12	ENST00000558134	5/5	154	119	35	145	145	0	sindel-varindel-pindel	SEC11A,frameshift_variant,p.Leu169PhefsTer11,ENST00000268220,NM_014300.3;SEC11A,frameshift_variant,p.Leu119PhefsTer11,ENST00000559729,NM_001271921.1;SEC11A,frameshift_variant,p.Leu143PhefsTer11,ENST00000455959,NM_001271918.1;SEC11A,frameshift_variant,p.Cys150LeufsTer12,ENST00000558134,NM_001271922.1;SEC11A,frameshift_variant,p.Leu125PhefsTer11,ENST00000558217,NM_001271919.1;SEC11A,3_prime_UTR_variant,,ENST00000560266,NM_001271920.1;SEC11A,3_prime_UTR_variant,,ENST00000560409,;SEC11A,non_coding_transcript_exon_variant,,ENST00000558924,;SEC11A,non_coding_transcript_exon_variant,,ENST00000559376,;	A	ENST00000558134	Transcript	frameshift_variant	462-463/971	448-449/558	150/185	C/LX	tgc/tTgc		1		-1	SEC11A	HGNC	HGNC:17718	protein_coding	YES	CCDS61743.1	ENSP00000452697	P67812		UPI00022F86B3	NM_001271922.1			5/5		TIGRFAM_domain:TIGR02228																	HIGH	1	insertion	3			1										PASS		.	.												A	7	5	90	84670052	84670052	-	A	1	0	1	1	0	0	0	0	0	14254	710	25	0		0	SEC11A	15	84670052	Frame_Shift_Ins	INS	-	C3N-02089_TP	2129953	84670052	17321137	799	29596											
AGBL1	0	.	GRCh38	chr15	86224951	86224951	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcattgctgaaatccAgtaagcacctcttttgaagg	11	11	10	9	0	1	2	0	2	1	0	2	2	2	2	2	2	3	5	2	2	3	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.526A>T	p.Lys176Ter	p.K176*	ENST00000441037	6/25	258	180	78	174	174	0	strelka-varscan-mutect	AGBL1,stop_gained,p.Lys176Ter,ENST00000441037,;AGBL1,stop_gained,p.Lys130Ter,ENST00000635782,NM_152336.2;AGBL1,stop_gained,p.Lys130Ter,ENST00000421325,;	T	ENST00000441037	Transcript	stop_gained,splice_region_variant	526/3551	526/3339	176/1112	K/*	Aag/Tag		1		1	AGBL1	Clone_based_vega_gene	HGNC:26504	protein_coding	YES		ENSP00000413001	Q96MI9		UPI000387C1D9				6/25		Gene3D:1.25.10.10,hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF5,Superfamily_domains:SSF48371																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	90	86224951	86224951	A	T	1	0	0	0	0	0	1	0	0	451	202	7	4		4	AGBL1	15	86224951	Nonsense_Mutation	SNP	A	C3N-02089_TP	1554899	86224951	15766238	800	29597											
NR2F2	0	.	GRCh38	chr15	96332379	96332379	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcgagcggcaagcactacGgccagttcacgtgcgagggc	9	5	15	12	5	1	0	1	0	0	0	2	2	1	0	1	3	4	3	1	3	2	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.274G>C	p.Gly92Arg	p.G92R	ENST00000394166	1/3	530	443	87	303	303	0	strelka-varscan-mutect	NR2F2,missense_variant,p.Gly92Arg,ENST00000394166,NM_021005.3;NR2F2,intron_variant,,ENST00000421109,NM_001145155.1;NR2F2,upstream_gene_variant,,ENST00000394171,NM_001145156.1;NR2F2,upstream_gene_variant,,ENST00000453270,NM_001145157.1;NR2F2,upstream_gene_variant,,ENST00000559679,;NR2F2,upstream_gene_variant,,ENST00000410719,;	C	ENST00000394166	Transcript	missense_variant	1663/5275	274/1245	92/414	G/R	Ggc/Cgc		1		1	NR2F2	HGNC	HGNC:7976	protein_coding	YES	CCDS10375.1	ENSP00000377721	P24468	F1D8R0	UPI000000052E	NM_021005.3	deleterious(0)		1/3		PROSITE_profiles:PS51030,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF45,PROSITE_patterns:PS00031,Pfam_domain:PF00105,Gene3D:3.30.50.10,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047																	MODERATE	1	SNV	1			1										PASS		rs916901985	.												C	3	2	90	96332379	96332379	G	C	1	0	0	0	0	1	0	0	0	10684	1116	39	4		4	NR2F2	15	96332379	Missense_Mutation	SNP	G	C3N-02089_TP	10107428	96332379	5658810	801	29598											
SNRPA1	0	.	GRCh38	chr15	101287673	101287673	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccttaggtaagtcagcgaTttgagagatgccagagggtc	11	10	13	7	1	1	3	1	1	0	2	2	5	1	3	2	2	3	1	2	2	3	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.339A>G	p.=	p.K113K	ENST00000254193	4/9	369	345	24	207	207	0	strelka-varscan-mutect	SNRPA1,synonymous_variant,p.=,ENST00000254193,NM_003090.2;SNRPA1,synonymous_variant,p.=,ENST00000559686,;SNRPA1,synonymous_variant,p.=,ENST00000626000,;SNRPA1,5_prime_UTR_variant,,ENST00000560496,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000560856,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000394082,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000560987,;SNRPA1,intron_variant,,ENST00000540017,;SNRPA1,downstream_gene_variant,,ENST00000558020,;SNRPA1,synonymous_variant,p.=,ENST00000559309,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000560433,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000558036,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000558059,;SNRPA1,non_coding_transcript_exon_variant,,ENST00000560383,;SNRPA1,upstream_gene_variant,,ENST00000560307,;	C	ENST00000254193	Transcript	synonymous_variant	412/1055	339/768	113/255	K	aaA/aaG		1		-1	SNRPA1	HGNC	HGNC:11152	protein_coding	YES	CCDS10391.1	ENSP00000254193	P09661		UPI000006DD72	NM_003090.2			4/9		hmmpanther:PTHR10552,Gene3D:3.80.10.10,Pfam_domain:PF14580,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	101287673	101287673	T	C	1	0	0	0	0	0	0	0	1	15180	1490	52	5		5	SNRPA1	15	101287673	Silent	SNP	T	C3N-02089_TP	4955294	101287673	703516	802	29599											
PKD1	0	.	GRCh38	chr16	2103649	2103649	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggggatggagaagtggcagCcaggccctggggcgccgcca	7	3	19	12	3	0	1	0	0	0	1	0	3	0	2	4	7	1	1	4	7	1	0			C3N-02089_TP	C3N-02089_NB	C	C																c.8408G>C	p.Gly2803Ala	p.G2803A	ENST00000262304	23/46	463	414	49	397	397	0	varscan-mutect	PKD1,missense_variant,p.Gly2803Ala,ENST00000262304,NM_001009944.2;PKD1,missense_variant,p.Gly2803Ala,ENST00000423118,NM_000296.3;PKD1,intron_variant,,ENST00000567946,;PKD1,downstream_gene_variant,,ENST00000488185,;PKD1,downstream_gene_variant,,ENST00000483024,;PKD1,downstream_gene_variant,,ENST00000612014,;PKD1,intron_variant,,ENST00000561991,;PKD1,downstream_gene_variant,,ENST00000473780,;PKD1,upstream_gene_variant,,ENST00000570193,;PKD1,downstream_gene_variant,,ENST00000483558,;PKD1,upstream_gene_variant,,ENST00000566905,;PKD1,upstream_gene_variant,,ENST00000475889,;PKD1,upstream_gene_variant,,ENST00000566784,;PKD1,downstream_gene_variant,,ENST00000564865,;PKD1,missense_variant,p.Gly1032Ala,ENST00000487932,;PKD1,non_coding_transcript_exon_variant,,ENST00000486339,;PKD1,non_coding_transcript_exon_variant,,ENST00000496574,;PKD1,non_coding_transcript_exon_variant,,ENST00000483731,;PKD1,non_coding_transcript_exon_variant,,ENST00000415938,;PKD1,non_coding_transcript_exon_variant,,ENST00000471603,;PKD1,non_coding_transcript_exon_variant,,ENST00000480227,;PKD1,non_coding_transcript_exon_variant,,ENST00000562297,;PKD1,downstream_gene_variant,,ENST00000568591,;PKD1,downstream_gene_variant,,ENST00000565639,;PKD1,upstream_gene_variant,,ENST00000474088,;PKD1,downstream_gene_variant,,ENST00000569983,;PKD1,upstream_gene_variant,,ENST00000469851,;PKD1,upstream_gene_variant,,ENST00000570253,;PKD1,downstream_gene_variant,,ENST00000564890,;PKD1,upstream_gene_variant,,ENST00000483814,;	G	ENST00000262304	Transcript	missense_variant	8617/14138	8408/12912	2803/4303	G/A	gGc/gCc	COSM702335	1		-1	PKD1	HGNC	HGNC:9008	protein_coding	YES	CCDS32369.1	ENSP00000262304	P98161		UPI00001B0454	NM_001009944.2	tolerated(0.09)		23/46		PROSITE_profiles:PS51111,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF143											1						MODERATE	1	SNV	1		1	1										PASS		rs1368840123	.												G	3	3	90	2103649	2103649	C	G	1	0	0	0	0	1	0	0	0	12059	739	26	4		4	PKD1	16	2103649	Missense_Mutation	SNP	C	C3N-02089_TP		2103649	88234696	803	29600											
GRIN2A	0	.	GRCh38	chr16	9763164	9763164	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gatttttaaacatcagattcGatactaggcattttcttgta	12	17	6	6	1	2	1	1	0	1	1	3	3	2	1	0	1	2	2	0	1	5	10	rs769629103		C3N-02089_TP	C3N-02089_NB	G	G																c.4380C>G	p.Ile1460Met	p.I1460M	ENST00000396573	14/14	149	126	23	241	241	0	strelka-varscan-mutect	GRIN2A,missense_variant,p.Ile1460Met,ENST00000396573,NM_000833.4;GRIN2A,missense_variant,p.Ile1323Met,ENST00000396575,;GRIN2A,missense_variant,p.Ile1460Met,ENST00000330684,NM_001134407.2;GRIN2A,3_prime_UTR_variant,,ENST00000562109,NM_001134408.2;GRIN2A,3_prime_UTR_variant,,ENST00000535259,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000636273,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000461292,;GRIN2A,downstream_gene_variant,,ENST00000463531,;	C	ENST00000396573	Transcript	missense_variant	4690/14450	4380/4395	1460/1464	I/M	atC/atG	rs769629103,COSM3513409	1		-1	GRIN2A	HGNC	HGNC:4585	protein_coding	YES	CCDS10539.1	ENSP00000379818	Q12879	Q547U9	UPI000000D7AB	NM_000833.4	deleterious(0)		14/14		Pfam_domain:PF10565											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs769629103	.												C	3	2	90	9763164	9763164	G	C	1	0	0	0	0	1	0	0	0	6661	1048	37	4		4	GRIN2A	16	9763164	Missense_Mutation	SNP	G	C3N-02089_TP	7659515	9763164	80575181	804	29601											
GRIN2A	0	.	GRCh38	chr16	9763538	9763538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagctttttttccccgagaGtttgcttgaggggacactaa	8	13	12	8	1	0	2	0	1	0	1	1	5	1	4	2	3	2	3	2	3	1	6	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.4006C>T	p.Leu1336Phe	p.L1336F	ENST00000396573	14/14	198	147	51	233	233	0	strelka-varscan-mutect	GRIN2A,missense_variant,p.Leu1336Phe,ENST00000396573,NM_000833.4;GRIN2A,missense_variant,p.Leu1199Phe,ENST00000396575,;GRIN2A,missense_variant,p.Leu1336Phe,ENST00000330684,NM_001134407.2;GRIN2A,intron_variant,,ENST00000562109,NM_001134408.2;GRIN2A,intron_variant,,ENST00000535259,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000636273,;GRIN2A,intron_variant,,ENST00000461292,;GRIN2A,downstream_gene_variant,,ENST00000463531,;	A	ENST00000396573	Transcript	missense_variant	4316/14450	4006/4395	1336/1464	L/F	Ctc/Ttc		1		-1	GRIN2A	HGNC	HGNC:4585	protein_coding	YES	CCDS10539.1	ENSP00000379818	Q12879	Q547U9	UPI000000D7AB	NM_000833.4	tolerated(0.71)		14/14		Low_complexity_(Seg):seg,Pfam_domain:PF10565																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	9763538	9763538	G	A	1	0	0	0	0	1	0	0	0	6661	1029	36	3		3	GRIN2A	16	9763538	Missense_Mutation	SNP	G	C3N-02089_TP	374	9763538	80574807	805	29602											
SMG1	0	.	GRCh38	chr16	18852072	18852072	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttttccttgcctgaaTccccgccggccgacacacag	7	9	8	17	3	0	1	0	1	0	0	2	2	2	1	7	1	1	1	7	1	1	3	rs79443600		C3N-02089_TP	C3N-02089_NB	T	T																c.5047A>C	p.Ile1683Leu	p.I1683L	ENST00000446231	33/63	57	47	10	78	78	0	strelka-varscan-mutect	SMG1,missense_variant,p.Ile1683Leu,ENST00000446231,NM_015092.4;SMG1,missense_variant,p.Ile1573Leu,ENST00000565324,;SMG1,downstream_gene_variant,,ENST00000569764,;SMG1,upstream_gene_variant,,ENST00000563448,;SMG1,upstream_gene_variant,,ENST00000562668,;	G	ENST00000446231	Transcript	missense_variant	5460/16115	5047/10986	1683/3661	I/L	Att/Ctt	rs79443600	1		-1	SMG1	HGNC	HGNC:30045	protein_coding	YES	CCDS45430.1	ENSP00000402515	Q96Q15		UPI00004F8E22	NM_015092.4	tolerated(0.26)		33/63		PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF71																	MODERATE	1	SNV	1			1										PASS		rs79443600	.												G	3	3	90	18852072	18852072	T	G	1	0	0	0	0	1	0	0	0	15089	1449	50	5		5	SMG1	16	18852072	Missense_Mutation	SNP	T	C3N-02089_TP	9088534	18852072	71486273	806	29603											
DNAH3	0	.	GRCh38	chr16	21042203	21042203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaccacagacagcacttctaCctggggtgagaatgcccggc	10	6	12	13	1	1	2	0	1	1	2	1	4	1	2	3	3	3	1	3	3	2	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.4462G>T	p.Val1488Leu	p.V1488L	ENST00000261383	32/62	42	34	8	59	59	0	strelka-varscan-mutect	DNAH3,missense_variant,p.Val1488Leu,ENST00000261383,NM_017539.2;DNAH3,splice_region_variant,,ENST00000572640,;DNAH3,upstream_gene_variant,,ENST00000572931,;	A	ENST00000261383	Transcript	missense_variant,splice_region_variant	4462/12394	4462/12351	1488/4116	V/L	Gta/Tta		1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2	tolerated(1)		32/62		hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676,Pfam_domain:PF12774,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1379596389	.												A	3	1	90	21042203	21042203	C	A	1	0	0	0	0	1	0	0	0	4418	521	18	2		2	DNAH3	16	21042203	Missense_Mutation	SNP	C	C3N-02089_TP	2190131	21042203	69296142	807	29604											
XPO6	0	.	GRCh38	chr16	28156247	28156247	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacatggccaggaccccCagccggccgcgctcctgacc	7	3	12	19	3	0	1	0	1	0	0	1	3	1	3	7	4	1	1	7	4	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.924G>T	p.=	p.L308L	ENST00000304658	7/24	146	96	50	181	181	0	strelka-varscan-mutect	XPO6,synonymous_variant,p.=,ENST00000304658,NM_015171.3;XPO6,synonymous_variant,p.=,ENST00000565698,NM_001270940.1;XPO6,synonymous_variant,p.=,ENST00000574435,;XPO6,non_coding_transcript_exon_variant,,ENST00000561488,;XPO6,non_coding_transcript_exon_variant,,ENST00000569973,;XPO6,upstream_gene_variant,,ENST00000564337,;XPO6,downstream_gene_variant,,ENST00000573645,;XPO6,upstream_gene_variant,,ENST00000565284,;XPO6,upstream_gene_variant,,ENST00000570294,;XPO6,upstream_gene_variant,,ENST00000566175,;	A	ENST00000304658	Transcript	synonymous_variant	1425/4422	924/3378	308/1125	L	ctG/ctT		1		-1	XPO6	HGNC	HGNC:19733	protein_coding	YES	CCDS42135.1	ENSP00000302790	Q96QU8		UPI000006F228	NM_015171.3			7/24		hmmpanther:PTHR21452,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	28156247	28156247	C	A	1	0	0	0	0	0	0	0	1	18007	581	21	2		2	XPO6	16	28156247	Silent	SNP	C	C3N-02089_TP	7114044	28156247	62182098	808	29605											
SEZ6L2	0	.	GRCh38	chr16	29873338	29873338	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagccctcatagcagaagAagcgcagagactcgcccgcc	13	3	10	15	3	1	3	1	0	0	3	2	4	1	3	3	0	3	2	3	0	4	1			C3N-02089_TP	C3N-02089_NB	A	A																c.2390T>A	p.Phe797Tyr	p.F797Y	ENST00000617533	14/18	368	316	52	322	322	0	strelka-varscan-mutect	SEZ6L2,missense_variant,p.Phe797Tyr,ENST00000308713,NM_201575.3,NM_001114099.2;SEZ6L2,missense_variant,p.Phe797Tyr,ENST00000617533,NM_001243332.1;SEZ6L2,missense_variant,p.Phe753Tyr,ENST00000537485,NM_001243333.1;SEZ6L2,missense_variant,p.Phe727Tyr,ENST00000350527,NM_012410.3;SEZ6L2,missense_variant,p.Phe683Tyr,ENST00000346932,NM_001114100.2;SEZ6L2,downstream_gene_variant,,ENST00000563118,;SEZ6L2,downstream_gene_variant,,ENST00000568407,;	T	ENST00000617533	Transcript	missense_variant	2635/3555	2390/2772	797/923	F/Y	tTc/tAc	COSM1563150,COSM1563151	1		-1	SEZ6L2	HGNC	HGNC:30844	protein_coding	YES	CCDS73865.1	ENSP00000481917		A0A087WYL5	UPI00001FFE46	NM_001243332.1	tolerated(0.07)		14/18		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF92,SMART_domains:SM00032,Superfamily_domains:SSF57535											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	90	29873338	29873338	A	T	1	0	0	0	0	1	0	0	0	14423	246	9	4		4	SEZ6L2	16	29873338	Missense_Mutation	SNP	A	C3N-02089_TP	1717091	29873338	60465007	809	29606											
ZNF771	0	.	GRCh38	chr16	30418183	30418183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcacgcacacaggcgagcGgccctacccctgcgccgagt	7	3	13	18	6	0	0	0	0	0	0	0	2	0	0	4	2	3	2	4	2	1	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.770G>T	p.Arg257Leu	p.R257L	ENST00000319296	3/3	73	52	21	86	86	0	strelka-varscan-mutect	ZNF771,missense_variant,p.Arg257Leu,ENST00000319296,;ZNF771,missense_variant,p.Arg257Leu,ENST00000434417,NM_001142305.1,NM_016643.3;ZNF771,intron_variant,,ENST00000566625,;ZNF771,downstream_gene_variant,,ENST00000564550,;SNORA42,downstream_gene_variant,,ENST00000362917,;	T	ENST00000319296	Transcript	missense_variant	1147/2371	770/954	257/317	R/L	cGg/cTg		1		1	ZNF771	HGNC	HGNC:29653	protein_coding	YES	CCDS45460.1	ENSP00000323945	Q7L3S4		UPI00001FFEDE		deleterious(0)		3/3		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF199,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	30418183	30418183	G	T	1	0	0	0	0	1	0	0	0	18727	1116	39	1		1	ZNF771	16	30418183	Missense_Mutation	SNP	G	C3N-02089_TP	544845	30418183	59920162	810	29607											
ORAI3	0	.	GRCh38	chr16	30949505	30949505	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcacgtctgccttgctctcGggcttcgccatggtgagggg	3	10	15	13	4	2	1	0	1	2	0	4	1	2	1	2	4	2	3	2	4	0	2	rs779214691		C3N-02089_TP	C3N-02089_NB	G	G																c.216G>T	p.=	p.S72S	ENST00000318663	1/2	189	145	44	156	156	0	strelka-varscan-mutect	ORAI3,synonymous_variant,p.=,ENST00000318663,NM_152288.2;ORAI3,synonymous_variant,p.=,ENST00000566237,;ORAI3,synonymous_variant,p.=,ENST00000562699,;FBXL19,downstream_gene_variant,,ENST00000338343,;FBXL19,downstream_gene_variant,,ENST00000380310,NM_001099784.2;FBXL19,downstream_gene_variant,,ENST00000471231,NM_001282351.1;FBXL19,downstream_gene_variant,,ENST00000427128,;FBXL19,downstream_gene_variant,,ENST00000565690,;FBXL19,downstream_gene_variant,,ENST00000562319,;FBXL19,downstream_gene_variant,,ENST00000565939,;FBXL19,downstream_gene_variant,,ENST00000566320,;AC135048.13,intron_variant,,ENST00000566056,;AC135048.13,intron_variant,,ENST00000562642,;ORAI3,synonymous_variant,p.=,ENST00000563161,;	T	ENST00000318663	Transcript	synonymous_variant	440/2206	216/888	72/295	S	tcG/tcT	rs779214691	1		1	ORAI3	HGNC	HGNC:28185	protein_coding	YES	CCDS10697.1	ENSP00000322249	Q9BRQ5	A0A024QZA7	UPI00000735E7	NM_152288.2			1/2		hmmpanther:PTHR31501:SF6,hmmpanther:PTHR31501,Pfam_domain:PF07856																	LOW	1	SNV	1			1										PASS		rs779214691	.												T	2	4	90	30949505	30949505	G	T	1	0	0	0	0	0	0	0	1	11325	1103	39	1		1	ORAI3	16	30949505	Silent	SNP	G	C3N-02089_TP	531322	30949505	59388840	811	29608											
ZNF423	0	.	GRCh38	chr16	49637754	49637754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcatcacagggtaggcatgGttcttgtgcagcttgcgaac	8	11	13	9	1	2	0	1	0	1	0	2	1	2	0	0	3	5	6	0	3	2	4			C3N-02089_TP	C3N-02089_NB	G	G																c.1398C>A	p.Asn466Lys	p.N466K	ENST00000561648	5/9	343	295	48	394	394	0	strelka-varscan-mutect	ZNF423,missense_variant,p.Asn466Lys,ENST00000561648,;ZNF423,missense_variant,p.Asn406Lys,ENST00000563137,;ZNF423,missense_variant,p.Asn466Lys,ENST00000262383,NM_015069.3;ZNF423,missense_variant,p.Asn406Lys,ENST00000562871,;ZNF423,missense_variant,p.Asn349Lys,ENST00000535559,;ZNF423,missense_variant,p.Asn406Lys,ENST00000562520,NM_001271620.1;ZNF423,missense_variant,p.Asn349Lys,ENST00000567169,;	T	ENST00000561648	Transcript	missense_variant	1699/7907	1398/3855	466/1284	N/K	aaC/aaA	COSM3927548,COSM3927549	1		-1	ZNF423	HGNC	HGNC:16762	protein_coding	YES	CCDS32445.1	ENSP00000455426	Q2M1K9		UPI0000353ABC		tolerated(0.92)		5/9		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF210											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs958714253	.												T	3	4	90	49637754	49637754	G	T	1	0	0	0	0	1	0	0	0	18470	1252	44	2		2	ZNF423	16	49637754	Missense_Mutation	SNP	G	C3N-02089_TP	18688249	49637754	40700591	812	29609											
SALL1	0	.	GRCh38	chr16	51137158	51137158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccacgaagcgggtgaagCggaagttggttccgttctca	8	9	13	11	4	1	1	1	1	1	0	4	3	3	2	3	3	2	3	3	3	3	3	rs372873373		C3N-02089_TP	C3N-02089_NB	C	C																c.3929G>T	p.Arg1310Leu	p.R1310L	ENST00000251020	3/3	201	141	60	224	223	1	strelka-varscan-mutect	SALL1,missense_variant,p.Arg1213Leu,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Arg1310Leu,ENST00000251020,NM_002968.2;SALL1,3_prime_UTR_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000570206,;	A	ENST00000251020	Transcript	missense_variant	3963/5146	3929/3975	1310/1324	R/L	cGc/cTc	rs372873373,COSM2834525	1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	tolerated(0.13)		3/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs372873373	.												A	3	1	90	51137158	51137158	C	A	1	0	0	0	0	1	0	0	0	14069	768	27	1		1	SALL1	16	51137158	Missense_Mutation	SNP	C	C3N-02089_TP	1499404	51137158	39201187	813	29610											
AKTIP	0	.	GRCh38	chr16	53494139	53494139	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggggatgcaccacttaccTaattgcataggggtcttcta	9	12	11	9	0	2	0	0	0	2	0	2	1	2	1	2	4	3	2	2	4	4	6	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.709A>G	p.Ser237Gly	p.S237G	ENST00000300245	9/11	112	99	13	155	155	0	strelka-mutect	AKTIP,missense_variant,p.Ser237Gly,ENST00000394657,NM_001012398.1,NM_022476.2;AKTIP,missense_variant,p.Ser237Gly,ENST00000300245,NM_001308325.1;AKTIP,missense_variant,p.Ser237Gly,ENST00000570004,;RBL2,downstream_gene_variant,,ENST00000262133,NM_001323611.1,NM_005611.3;AKTIP,downstream_gene_variant,,ENST00000568596,;AKTIP,downstream_gene_variant,,ENST00000568022,;AKTIP,downstream_gene_variant,,ENST00000570041,;AKTIP,downstream_gene_variant,,ENST00000563928,;AKTIP,downstream_gene_variant,,ENST00000565408,;RBL2,downstream_gene_variant,,ENST00000379935,;RP11-44F14.6,upstream_gene_variant,,ENST00000624610,;AKTIP,upstream_gene_variant,,ENST00000571523,;AKTIP,upstream_gene_variant,,ENST00000565431,;AKTIP,downstream_gene_variant,,ENST00000563108,;AKTIP,downstream_gene_variant,,ENST00000561799,;AKTIP,downstream_gene_variant,,ENST00000566045,;	C	ENST00000300245	Transcript	missense_variant,splice_region_variant	927/2133	709/882	237/293	S/G	Agc/Ggc		1		-1	AKTIP	HGNC	HGNC:16710	protein_coding	YES	CCDS76866.1	ENSP00000300245	Q9H8T0	A0A024R6S6	UPI00000433FA	NM_001308325.1	tolerated(0.44)		9/11		hmmpanther:PTHR24067:SF41,hmmpanther:PTHR24067																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	90	53494139	53494139	T	C	1	0	0	0	0	1	0	0	0	565	1536	53	5		5	AKTIP	16	53494139	Missense_Mutation	SNP	T	C3N-02089_TP	2356981	53494139	36844206	814	29611											
CNTNAP4	0	.	GRCh38	chr16	76489735	76489735	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgacttaacaagagtCagaaatactaatccagagaa	17	8	8	8	0	2	4	1	1	1	3	3	5	3	4	1	1	2	1	1	1	6	3	rs766597788		C3N-02089_TP	C3N-02089_NB	C	C																c.1932C>A	p.=	p.V644V	ENST00000611870	13/24	53	36	17	71	71	0	strelka-varscan-mutect	CNTNAP4,synonymous_variant,p.=,ENST00000307431,;CNTNAP4,synonymous_variant,p.=,ENST00000611870,NM_033401.3;CNTNAP4,synonymous_variant,p.=,ENST00000377504,;CNTNAP4,synonymous_variant,p.=,ENST00000476707,;CNTNAP4,synonymous_variant,p.=,ENST00000622250,;CNTNAP4,synonymous_variant,p.=,ENST00000478060,NM_138994.3;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000471618,;	A	ENST00000611870	Transcript	synonymous_variant	2317/4867	1932/3927	644/1308	V	gtC/gtA	rs766597788	1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3			13/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659																	LOW	1	SNV	1			1										PASS		rs766597788	.												A	2	1	90	76489735	76489735	C	A	1	0	0	0	0	0	0	0	1	3431	813	29	2		2	CNTNAP4	16	76489735	Silent	SNP	C	C3N-02089_TP	22995596	76489735	13848610	815	29612											
CNTNAP4	0	.	GRCh38	chr16	76498570	76498570	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctattgttttttaggacCaatgacactggattgcttgc	8	17	9	7	0	0	1	0	1	0	0	0	3	0	3	1	2	3	3	1	2	3	8	rs748587038		C3N-02089_TP	C3N-02089_NB	C	C																c.2241C>A	p.=	p.T747T	ENST00000611870	15/24	80	53	27	105	105	0	strelka-varscan-mutect	CNTNAP4,synonymous_variant,p.=,ENST00000307431,;CNTNAP4,synonymous_variant,p.=,ENST00000611870,NM_033401.3;CNTNAP4,synonymous_variant,p.=,ENST00000377504,;CNTNAP4,synonymous_variant,p.=,ENST00000476707,;CNTNAP4,synonymous_variant,p.=,ENST00000622250,;CNTNAP4,synonymous_variant,p.=,ENST00000478060,NM_138994.3;CNTNAP4,downstream_gene_variant,,ENST00000471618,;	A	ENST00000611870	Transcript	synonymous_variant	2626/4867	2241/3927	747/1308	T	acC/acA	rs748587038,COSM1519973,COSM1519974	1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3			15/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659,Superfamily_domains:SSF49899											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs748587038	.												A	2	1	90	76498570	76498570	C	A	1	0	0	0	0	0	0	0	1	3431	608	21	2		2	CNTNAP4	16	76498570	Silent	SNP	C	C3N-02089_TP	8835	76498570	13839775	816	29613											
HSD17B2	0	.	GRCh38	chr16	82098237	82098237	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggacttctctccggtgcTgcgggacatccagcatgcta	8	9	11	13	2	1	0	0	0	1	0	4	2	3	2	2	3	4	3	2	3	2	2	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.965T>A	p.Leu322Gln	p.L322Q	ENST00000199936	5/5	259	187	72	301	300	1	strelka-varscan-mutect	HSD17B2,missense_variant,p.Leu322Gln,ENST00000199936,NM_002153.2;HSD17B2,missense_variant,p.Leu186Gln,ENST00000568090,;HSD17B2,3_prime_UTR_variant,,ENST00000566838,;RP11-510J16.5,intron_variant,,ENST00000567021,;	A	ENST00000199936	Transcript	missense_variant	1158/1455	965/1164	322/387	L/Q	cTg/cAg		1		1	HSD17B2	HGNC	HGNC:5211	protein_coding	YES	CCDS10936.1	ENSP00000199936	P37059		UPI000004C78E	NM_002153.2	deleterious(0)		5/5		Gene3D:3.40.50.720,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	82098237	82098237	T	A	1	0	0	0	0	1	0	0	0	7279	1580	55	4		4	HSD17B2	16	82098237	Missense_Mutation	SNP	T	C3N-02089_TP	5599667	82098237	8240108	817	29614											
ZNF469	0	.	GRCh38	chr16	88434383	88434383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggcaggggactcccaGggccagacccccagagcagg	10	1	16	14	0	0	2	0	0	0	2	1	3	1	3	4	6	1	3	4	6	0	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.6829G>A	p.Gly2277Arg	p.G2277R	ENST00000437464	2/2	276	193	83	290	290	0	strelka-varscan-mutect	ZNF469,missense_variant,p.Gly2305Arg,ENST00000565624,;ZNF469,missense_variant,p.Gly2277Arg,ENST00000437464,NM_001127464.2;	A	ENST00000437464	Transcript	missense_variant	6829/13203	6829/11778	2277/3925	G/R	Ggg/Agg		1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2	tolerated(0.36)		2/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	88434383	88434383	G	A	1	0	0	0	0	1	0	0	0	18500	1000	35	3		3	ZNF469	16	88434383	Missense_Mutation	SNP	G	C3N-02089_TP	6336146	88434383	1903962	818	29615											
GSG2	0	.	GRCh38	chr17	3724753	3724753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagagtcctgctgtaaaaGgaaactggtggtgggaaatg	13	8	16	4	0	0	1	0	0	0	1	1	5	1	3	1	4	2	2	1	4	4	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.818G>T	p.Arg273Met	p.R273M	ENST00000325418	1/1	371	261	110	391	389	2	strelka-varscan-mutect	GSG2,missense_variant,p.Arg273Met,ENST00000325418,NM_031965.2;ITGAE,intron_variant,,ENST00000263087,NM_002208.4;ITGAE,downstream_gene_variant,,ENST00000574026,;CTD-3195I5.4,upstream_gene_variant,,ENST00000575043,;CTD-3195I5.3,downstream_gene_variant,,ENST00000571741,;ITGAE,intron_variant,,ENST00000571185,;ITGAE,upstream_gene_variant,,ENST00000570360,;ITGAE,upstream_gene_variant,,ENST00000572179,;ITGAE,intron_variant,,ENST00000570415,;ITGAE,upstream_gene_variant,,ENST00000572433,;	T	ENST00000325418	Transcript	missense_variant	851/2797	818/2397	273/798	R/M	aGg/aTg		1		1	GSG2	HGNC	HGNC:19682	protein_coding	YES	CCDS11036.1	ENSP00000325290	Q8TF76		UPI0000141654	NM_031965.2	deleterious_low_confidence(0.03)		1/1		hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF18																	MODERATE		SNV				1										PASS		.	.												T	3	4	90	3724753	3724753	G	T	1	0	0	0	0	1	0	0	0	6706	1000	35	2		2	GSG2	17	3724753	Missense_Mutation	SNP	G	C3N-02089_TP		3724753	79532688	819	29616											
NCBP3	0	.	GRCh38	chr17	3826154	3826154	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcttatcctgtgcaggCagggagctcatattgataag	10	12	11	8	0	2	2	1	2	1	0	3	3	3	3	1	2	2	3	1	2	3	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.543G>T	p.=	p.L181L	ENST00000389005	5/13	140	118	22	96	96	0	strelka-varscan-mutect	NCBP3,synonymous_variant,p.=,ENST00000389005,NM_001114118.2;NCBP3,upstream_gene_variant,,ENST00000577169,;NCBP3,non_coding_transcript_exon_variant,,ENST00000575815,;NCBP3,upstream_gene_variant,,ENST00000574911,;NCBP3,upstream_gene_variant,,ENST00000574379,;	A	ENST00000389005	Transcript	synonymous_variant	571/12770	543/1863	181/620	L	ctG/ctT		1		-1	NCBP3	HGNC	HGNC:24612	protein_coding	YES	CCDS45578.1	ENSP00000373657	Q53F19		UPI00004DDA14	NM_001114118.2			5/13		hmmpanther:PTHR16291,hmmpanther:PTHR16291:SF0,Gene3D:3.30.70.330																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	90	3826154	3826154	C	A	1	0	0	0	0	0	0	0	1	10230	697	25	2		2	NCBP3	17	3826154	Silent	SNP	C	C3N-02089_TP	101401	3826154	79431287	820	29617											
ATP2A3	0	.	GRCh38	chr17	3927983	3927983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaccggagctcacccCtgcttcctccctctctgagc	6	8	8	19	1	2	1	1	1	1	0	5	3	4	3	6	2	4	2	6	2	1	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.3137G>T	p.Arg1046Met	p.R1046M	ENST00000359983	22/23	546	489	57	418	418	0	strelka-varscan-mutect	ATP2A3,missense_variant,p.Arg1046Met,ENST00000359983,NM_174953.2,NM_174954.2;ATP2A3,missense_variant,p.Gly151Trp,ENST00000570845,;ATP2A3,missense_variant,p.Gln121His,ENST00000572116,;ATP2A3,intron_variant,,ENST00000309890,NM_174956.2;ATP2A3,intron_variant,,ENST00000397041,NM_005173.3;ATP2A3,intron_variant,,ENST00000397035,NM_174958.2;ATP2A3,intron_variant,,ENST00000352011,NM_174955.2;ATP2A3,intron_variant,,ENST00000397043,NM_174957.2;ATP2A3,intron_variant,,ENST00000570773,;ATP2A3,intron_variant,,ENST00000574999,;ATP2A3,downstream_gene_variant,,ENST00000576957,;ATP2A3,downstream_gene_variant,,ENST00000571245,;	A	ENST00000359983	Transcript	missense_variant,splice_region_variant	3137/3290	3137/3159	1046/1052	R/M	aGg/aTg		1		-1	ATP2A3	HGNC	HGNC:813	protein_coding	YES	CCDS11042.1	ENSP00000353072	Q93084		UPI0000161584	NM_174953.2,NM_174954.2			22/23																			MODERATE	1	SNV	5			1										PASS		rs1304651049	.												A	3	1	90	3927983	3927983	C	A	1	0	0	0	0	1	0	0	0	1291	695	24	2		2	ATP2A3	17	3927983	Missense_Mutation	SNP	C	C3N-02089_TP	101829	3927983	79329458	821	29618											
ALOX15	0	.	GRCh38	chr17	4637257	4637257	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagcttcgaacagtgtgcctCcctgggtgggggaagaggtc	7	8	16	10	1	0	1	0	0	0	1	3	3	1	2	2	4	3	1	2	4	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.809G>C	p.Gly270Ala	p.G270A	ENST00000570836	8/15	76	65	11	48	48	0	strelka-varscan-mutect	ALOX15,missense_variant,p.Gly270Ala,ENST00000570836,;ALOX15,missense_variant,p.Gly270Ala,ENST00000293761,NM_001140.3;ALOX15,missense_variant,p.Gly231Ala,ENST00000574640,;ALOX15,downstream_gene_variant,,ENST00000572265,;ALOX15,downstream_gene_variant,,ENST00000576394,;ALOX15,splice_region_variant,,ENST00000576572,;ALOX15,downstream_gene_variant,,ENST00000573740,;	G	ENST00000570836	Transcript	missense_variant,splice_region_variant	906/2784	809/1989	270/662	G/A	gGa/gCa		1		-1	ALOX15	HGNC	HGNC:433	protein_coding	YES	CCDS11049.1	ENSP00000458832	P16050		UPI000013E118		tolerated(1)		8/15		PROSITE_profiles:PS51393,hmmpanther:PTHR11771,hmmpanther:PTHR11771:SF33,Pfam_domain:PF00305,Gene3D:3.10.450.60,Superfamily_domains:SSF48484																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	90	4637257	4637257	C	G	1	0	0	0	0	1	0	0	0	638	869	30	4		4	ALOX15	17	4637257	Missense_Mutation	SNP	C	C3N-02089_TP	709274	4637257	78620184	822	29619											
MINK1	0	.	GRCh38	chr17	4885583	4885583	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggtcatcgcctgtgaTgagaaccctgatgccaccta	10	8	10	13	1	1	4	1	3	0	2	2	5	1	4	5	1	2	0	5	1	2	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.609T>G	p.Asp203Glu	p.D203E	ENST00000355280	7/32	179	169	10	141	141	0	strelka-varscan	MINK1,missense_variant,p.Asp203Glu,ENST00000355280,NM_153827.4,NM_015716.4;MINK1,missense_variant,p.Asp203Glu,ENST00000347992,NM_170663.4;MINK1,missense_variant,p.Asp203Glu,ENST00000453408,NM_001024937.3;RN7SL784P,downstream_gene_variant,,ENST00000577319,;MINK1,missense_variant,p.Asp66Glu,ENST00000571207,;MINK1,3_prime_UTR_variant,,ENST00000574453,NM_001321236.1;MINK1,3_prime_UTR_variant,,ENST00000577021,;MINK1,non_coding_transcript_exon_variant,,ENST00000572330,;	G	ENST00000355280	Transcript	missense_variant	805/4961	609/3999	203/1332	D/E	gaT/gaG		1		1	MINK1	HGNC	HGNC:17565	protein_coding	YES	CCDS45588.1	ENSP00000347427	Q8N4C8		UPI00001678BB	NM_153827.4,NM_015716.4	tolerated(0.07)		7/32		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF196,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	4885583	4885583	T	G	1	0	0	0	0	1	0	0	0	9551	1461	51	5		5	MINK1	17	4885583	Missense_Mutation	SNP	T	C3N-02089_TP	248326	4885583	78371858	823	29620											
USP6	0	.	GRCh38	chr17	5147094	5147094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtagaactttcctcaGgataaccaaaaagtacaact	15	12	5	9	0	2	1	1	0	1	1	3	2	3	2	2	1	4	2	2	1	7	5	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2331G>T	p.Gln777His	p.Q777H	ENST00000574788	29/38	128	113	15	134	134	0	strelka-varscan-mutect	USP6,missense_variant,p.Gln777His,ENST00000574788,NM_001304284.1;USP6,missense_variant,p.Gln777His,ENST00000250066,NM_004505.3;USP6,3_prime_UTR_variant,,ENST00000575709,;USP6,intron_variant,,ENST00000572949,;	T	ENST00000574788	Transcript	missense_variant	4561/8464	2331/4221	777/1406	Q/H	caG/caT		1		1	USP6	HGNC	HGNC:12629	protein_coding	YES	CCDS11069.2	ENSP00000460380	P35125		UPI000006226F	NM_001304284.1	tolerated_low_confidence(0.11)		29/38		Pfam_domain:PF00443,PROSITE_profiles:PS50235																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	5147094	5147094	G	T	1	0	0	0	0	1	0	0	0	17629	991	35	2		2	USP6	17	5147094	Missense_Mutation	SNP	G	C3N-02089_TP	261511	5147094	78110347	824	29621											
CLEC10A	0	.	GRCh38	chr17	7075618	7075618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatctctgagggtgtggCacagatgacagtcattctgg	10	12	12	7	0	3	3	1	2	2	1	4	3	3	3	0	3	0	1	0	3	2	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.707G>T	p.Cys236Phe	p.C236F	ENST00000576617	7/7	120	83	37	97	97	0	strelka-varscan-mutect	CLEC10A,missense_variant,p.Cys236Phe,ENST00000576617,;CLEC10A,intron_variant,,ENST00000254868,NM_182906.2;CLEC10A,intron_variant,,ENST00000416562,;CLEC10A,intron_variant,,ENST00000571664,NM_006344.2;CLEC10A,intron_variant,,ENST00000576549,;CLEC10A,downstream_gene_variant,,ENST00000571624,;	A	ENST00000576617	Transcript	missense_variant	977/1800	707/771	236/256	C/F	tGc/tTc		1		-1	CLEC10A	HGNC	HGNC:16916	protein_coding			ENSP00000458728	Q8IUN9		UPI00004C7FF8		deleterious_low_confidence(0)		7/7																			MODERATE		SNV	1			1										PASS		.	.												A	3	1	90	7075618	7075618	C	A	1	0	0	0	0	1	0	0	0	3261	710	25	2		2	CLEC10A	17	7075618	Missense_Mutation	SNP	C	C3N-02089_TP	1928524	7075618	76181823	825	29622											
C17orf74	0	.	GRCh38	chr17	7426458	7426458	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaatcccccatagccactCagtcttccgtaacccacatc	12	8	3	18	1	2	0	1	0	1	0	5	0	4	0	5	0	2	1	5	0	3	3	rs768767420		C3N-02089_TP	C3N-02089_NB	C	C																c.467C>A	p.Ser156Ter	p.S156*	ENST00000333870	3/3	369	327	42	335	335	0	strelka-varscan-mutect	C17orf74,stop_gained,p.Ser156Ter,ENST00000333870,NM_175734.4;C17orf74,intron_variant,,ENST00000574034,;RP11-104H15.12,upstream_gene_variant,,ENST00000636696,;SPEM1,downstream_gene_variant,,ENST00000323675,NM_199339.2;RP11-104H15.7,intron_variant,,ENST00000575310,;	A	ENST00000333870	Transcript	stop_gained	541/1651	467/1506	156/501	S/*	tCa/tAa	rs768767420	1		1	C17orf74	HGNC	HGNC:27315	protein_coding	YES	CCDS42255.1	ENSP00000328061	Q0P670		UPI000015FC87	NM_175734.4			3/3		Pfam_domain:PF15670,hmmpanther:PTHR34834,hmmpanther:PTHR34834:SF2																	HIGH	1	SNV	1			1										PASS		rs768767420	.												A	4	1	90	7426458	7426458	C	A	1	0	0	0	0	0	1	0	0	1888	838	29	2		2	C17orf74	17	7426458	Nonsense_Mutation	SNP	C	C3N-02089_TP	350840	7426458	75830983	826	29623											
TP53	0	.	GRCh38	chr17	7674893	7674893	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaccaccacactatgtCgaaaagtgtttctgtcatcc	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2	rs587778720		C3N-02089_TP	C3N-02089_NB	C	C																c.638G>T	p.Arg213Leu	p.R213L	ENST00000269305	6/11	522	311	211	370	370	0	strelka-varscan-mutect	TP53,missense_variant,p.Arg213Leu,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Arg213Leu,ENST00000420246,;TP53,missense_variant,p.Arg174Leu,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Arg174Leu,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Arg213Leu,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Arg174Leu,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Arg213Leu,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Arg174Leu,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Arg213Leu,ENST00000445888,;TP53,missense_variant,p.Arg174Leu,ENST00000619485,;TP53,missense_variant,p.Arg81Leu,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Arg54Leu,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Arg81Leu,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Arg54Leu,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Arg81Leu,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Arg54Leu,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Arg213Leu,ENST00000359597,;TP53,missense_variant,p.Arg202Leu,ENST00000615910,;TP53,missense_variant,p.Arg213Leu,ENST00000413465,;TP53,missense_variant,p.Arg81Leu,ENST00000509690,;TP53,missense_variant,p.Arg120Leu,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,missense_variant,p.Arg174Leu,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	828/2579	638/1182	213/393	R/L	cGa/cTa	rs587778720,CM004906,CM022474,TP53_g.12707G>C,TP53_g.12707G>T,TP53_g.12707G>A,COSM10735,COSM11860,COSM131466,COSM131467,COSM131468,COSM131469,COSM1726594,COSM1741334,COSM241997,COSM241998,COSM241999,COSM242000,COSM3378349,COSM3403265,COSM3717650,COSM3717651,COSM3717652,COSM3717653,COSM3717654,COSM3717655,COSM43650	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		6/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										not_provided,pathogenic	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs587778720	.												A	3	1	90	7674893	7674893	C	A	1	0	0	0	0	1	0	0	0	16859	884	31	1		1	TP53	17	7674893	Missense_Mutation	SNP	C	C3N-02089_TP	248435	7674893	75582548	827	29624											
SPDYE4	0	.	GRCh38	chr17	8757376	8757376	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaggtgtcctcgggctCaggggcgcgctccaactcca	6	6	12	17	3	1	0	1	0	0	0	5	0	4	0	4	4	1	2	4	4	1	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.226G>T	p.Glu76Ter	p.E76*	ENST00000328794	2/6	273	239	34	263	263	0	strelka-varscan-mutect	SPDYE4,stop_gained,p.Glu76Ter,ENST00000328794,NM_001128076.1;SPDYE4,stop_gained,p.Glu5Ter,ENST00000580999,;SPDYE4,3_prime_UTR_variant,,ENST00000582989,;	A	ENST00000328794	Transcript	stop_gained	403/923	226/714	76/237	E/*	Gag/Tag		1		-1	SPDYE4	HGNC	HGNC:35463	protein_coding	YES	CCDS45609.1	ENSP00000329522	A6NLX3		UPI0000DD83CC	NM_001128076.1			2/6		hmmpanther:PTHR31156																	HIGH	1	SNV	1			1										PASS		rs992218890	.												A	4	1	90	8757376	8757376	C	A	1	0	0	0	0	0	1	0	0	15380	835	29	2		2	SPDYE4	17	8757376	Nonsense_Mutation	SNP	C	C3N-02089_TP	1082483	8757376	74500065	828	29625											
PIK3R6	0	.	GRCh38	chr17	8803314	8803314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttgatgggcatcagaaGgggcttgggcttggctttga	6	13	17	5	0	1	3	1	2	0	1	1	3	1	3	0	5	0	5	0	5	1	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2224C>T	p.Leu742Phe	p.L742F	ENST00000619866	20/20	223	197	26	215	215	0	strelka-varscan-mutect	PIK3R6,missense_variant,p.Leu742Phe,ENST00000619866,NM_001010855.3,NM_001290211.1;PIK3R6,missense_variant,p.Leu742Phe,ENST00000614407,;MFSD6L,upstream_gene_variant,,ENST00000329805,NM_152599.3;PIK3R6,3_prime_UTR_variant,,ENST00000611951,;PIK3R6,3_prime_UTR_variant,,ENST00000613555,;	A	ENST00000619866	Transcript	missense_variant	2464/3041	2224/2265	742/754	L/F	Ctt/Ttt		1		-1	PIK3R6	HGNC	HGNC:27101	protein_coding	YES	CCDS73985.1	ENSP00000480157	Q5UE93		UPI0000043463	NM_001010855.3,NM_001290211.1	deleterious(0)		20/20		hmmpanther:PTHR15593:SF1,hmmpanther:PTHR15593,Pfam_domain:PF10486																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	8803314	8803314	G	A	1	0	0	0	0	1	0	0	0	12018	1000	35	3		3	PIK3R6	17	8803314	Missense_Mutation	SNP	G	C3N-02089_TP	45938	8803314	74454127	829	29626											
PIK3R5	0	.	GRCh38	chr17	8886247	8886247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgacgccttgatggcacGtgtggcagcggagtgaccca	8	7	14	12	3	0	3	0	3	0	0	0	4	0	4	3	3	1	2	3	3	0	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2110C>T	p.Arg704Cys	p.R704C	ENST00000447110	14/19	167	134	33	182	182	0	strelka-varscan-mutect	PIK3R5,missense_variant,p.Arg704Cys,ENST00000447110,NM_001142633.2;PIK3R5,missense_variant,p.Arg318Cys,ENST00000616147,NM_001251852.1;PIK3R5,missense_variant,p.Arg318Cys,ENST00000611902,NM_001251853.1,NM_001251851.1;PIK3R5,missense_variant,p.Arg318Cys,ENST00000623421,NM_001251855.1;PIK3R5,missense_variant,p.Arg704Cys,ENST00000581552,NM_014308.3;PIK3R5,missense_variant,p.Arg703Cys,ENST00000584803,;PIK3R5,upstream_gene_variant,,ENST00000585260,;PIK3R5,downstream_gene_variant,,ENST00000578457,;PIK3R5,downstream_gene_variant,,ENST00000580959,;PIK3R5,downstream_gene_variant,,ENST00000584456,;PIK3R5,upstream_gene_variant,,ENST00000578743,;PIK3R5,downstream_gene_variant,,ENST00000577981,;PIK3R5,downstream_gene_variant,,ENST00000583812,;PIK3R5,3_prime_UTR_variant,,ENST00000269300,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000578515,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000577214,;PIK3R5,upstream_gene_variant,,ENST00000583810,;PIK3R5,downstream_gene_variant,,ENST00000583039,;	A	ENST00000447110	Transcript	missense_variant	2240/4495	2110/2643	704/880	R/C	Cgt/Tgt		1		-1	PIK3R5	HGNC	HGNC:30035	protein_coding	YES	CCDS11147.1	ENSP00000392812	Q8WYR1	L7RT34	UPI0000071DB4	NM_001142633.2	deleterious(0)		14/19		hmmpanther:PTHR15593,hmmpanther:PTHR15593:SF2,Pfam_domain:PF10486																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	8886247	8886247	G	A	1	0	0	0	0	1	0	0	0	12017	1145	40	1		1	PIK3R5	17	8886247	Missense_Mutation	SNP	G	C3N-02089_TP	82933	8886247	74371194	830	29627											
STX8	0	.	GRCh38	chr17	9568444	9568444	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatttcttgggcaattTgacaagtagaatcgtatgtg	12	13	10	6	1	1	2	0	1	1	1	2	2	1	2	0	1	1	4	0	1	6	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.44A>C	p.Gln15Pro	p.Q15P	ENST00000306357	2/8	187	173	14	183	183	0	strelka-varscan-mutect	STX8,missense_variant,p.Gln15Pro,ENST00000306357,NM_004853.2;STX8,missense_variant,p.Gln15Pro,ENST00000573016,;STX8,intron_variant,,ENST00000574431,;STX8,non_coding_transcript_exon_variant,,ENST00000573373,;STX8,non_coding_transcript_exon_variant,,ENST00000573077,;STX8,missense_variant,p.Gln15Pro,ENST00000575858,;STX8,missense_variant,p.Gln15Pro,ENST00000575294,;STX8,non_coding_transcript_exon_variant,,ENST00000574382,;	G	ENST00000306357	Transcript	missense_variant	472/1246	44/711	15/236	Q/P	cAa/cCa		1		-1	STX8	HGNC	HGNC:11443	protein_coding	YES	CCDS32565.1	ENSP00000305255	Q9UNK0		UPI0000136169	NM_004853.2	deleterious(0.01)		2/8		hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF119,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	9568444	9568444	T	G	1	0	0	0	0	1	0	0	0	15735	1812	63	5		5	STX8	17	9568444	Missense_Mutation	SNP	T	C3N-02089_TP	682197	9568444	73688997	831	29628											
CFAP52	0	.	GRCh38	chr17	9598302	9598302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaactgagtgccaaacagGacagttgaaaagaatagtca	17	6	10	8	0	1	3	1	2	0	1	1	4	1	4	2	1	3	1	2	1	6	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.605G>T	p.Gly202Val	p.G202V	ENST00000352665	5/14	147	104	43	188	188	0	strelka-varscan-mutect	CFAP52,missense_variant,p.Gly202Val,ENST00000352665,NM_145054.4;CFAP52,missense_variant,p.Gly134Val,ENST00000396219,NM_001080556.1;CFAP52,downstream_gene_variant,,ENST00000576499,;CFAP52,missense_variant,p.Asp47Tyr,ENST00000574937,;CFAP52,3_prime_UTR_variant,,ENST00000576630,;CFAP52,3_prime_UTR_variant,,ENST00000575247,;CFAP52,3_prime_UTR_variant,,ENST00000572333,;CFAP52,non_coding_transcript_exon_variant,,ENST00000576320,;	T	ENST00000352665	Transcript	missense_variant	674/2193	605/1863	202/620	G/V	gGa/gTa		1		1	CFAP52	HGNC	HGNC:16053	protein_coding	YES	CCDS11149.2	ENSP00000339449	Q8N1V2		UPI00001AECC1	NM_145054.4	deleterious(0.01)		5/14		Gene3D:2.130.10.10,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF14,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	9598302	9598302	G	T	1	0	0	0	0	1	0	0	0	3023	1174	41	2		2	CFAP52	17	9598302	Missense_Mutation	SNP	G	C3N-02089_TP	29858	9598302	73659139	832	29629											
MYH13	0	.	GRCh38	chr17	10311927	10311927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttgcagatttttgttCtctcgcctcagtgtctctaa	6	17	6	12	1	4	1	2	0	2	1	7	1	4	1	2	0	1	2	2	0	1	5			C3N-02089_TP	C3N-02089_NB	C	C																c.4515G>T	p.Glu1505Asp	p.E1505D	ENST00000418404	31/41	138	109	29	152	152	0	strelka-varscan-mutect	MYH13,missense_variant,p.Glu1505Asp,ENST00000418404,;MYH13,missense_variant,p.Glu1505Asp,ENST00000252172,NM_003802.2;MYH13,missense_variant,p.Glu1505Asp,ENST00000621918,;RP11-401O9.4,intron_variant,,ENST00000609088,;	A	ENST00000418404	Transcript	missense_variant	4679/6296	4515/5817	1505/1938	E/D	gaG/gaT	COSM975108,COSM975109	1		-1	MYH13	HGNC	HGNC:7571	protein_coding	YES	CCDS45613.1	ENSP00000404570	Q9UKX3		UPI0000DB39EA		deleterious(0.02)		31/41		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF504,Superfamily_domains:SSF90257											1,1						MODERATE		SNV	5		1,1	1										PASS		.	.												A	3	1	90	10311927	10311927	C	A	1	0	0	0	0	1	0	0	0	10032	912	32	2		2	MYH13	17	10311927	Missense_Mutation	SNP	C	C3N-02089_TP	713625	10311927	72945514	833	29630											
MYH8	0	.	GRCh38	chr17	10412699	10412699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtaggtctgcagagttcaGactctggagataggctgcct	9	10	14	8	0	3	3	1	0	2	3	3	5	3	3	1	3	2	4	1	3	2	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1177C>A	p.Leu393Met	p.L393M	ENST00000403437	13/40	452	339	113	405	405	0	strelka-varscan-mutect	MYH8,missense_variant,p.Leu393Met,ENST00000403437,NM_002472.2;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000403437	Transcript	missense_variant	1272/6041	1177/5814	393/1937	L/M	Ctg/Atg		1		-1	MYH8	HGNC	HGNC:7578	protein_coding	YES	CCDS11153.1	ENSP00000384330	P13535		UPI000012FB7D	NM_002472.2	deleterious(0.03)		13/40		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF368,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	90	10412699	10412699	G	T	1	0	0	0	0	1	0	0	0	10041	933	33	2		2	MYH8	17	10412699	Missense_Mutation	SNP	G	C3N-02089_TP	100772	10412699	72844742	834	29631											
MYH1	0	.	GRCh38	chr17	10496117	10496117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccttcaggtcctcctGgctccggagagcatcatcca	6	11	9	15	1	2	1	2	0	0	1	7	2	7	1	5	3	1	3	5	3	0	2			C3N-02089_TP	C3N-02089_NB	G	G																c.5002C>A	p.Gln1668Lys	p.Q1668K	ENST00000226207	35/40	213	193	20	251	250	1	strelka-varscan-mutect	MYH1,missense_variant,p.Gln1668Lys,ENST00000226207,NM_005963.3;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	T	ENST00000226207	Transcript	missense_variant	5097/6024	5002/5820	1668/1939	Q/K	Cag/Aag	COSM368637	1		-1	MYH1	HGNC	HGNC:7567	protein_coding	YES	CCDS11155.1	ENSP00000226207	P12882		UPI000013C891	NM_005963.3	tolerated(0.15)		35/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF454											1						MODERATE		SNV	5		1	1										PASS		.	.												T	3	4	90	10496117	10496117	G	T	1	0	0	0	0	1	0	0	0	10029	1357	47	2		2	MYH1	17	10496117	Missense_Mutation	SNP	G	C3N-02089_TP	83418	10496117	72761324	835	29632											
MYH2	0	.	GRCh38	chr17	10525837	10525837	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgttcacagcttctacAtgttcctcagctgcctgcag	6	13	9	13	1	3	0	2	0	1	0	4	0	4	0	2	1	5	5	2	1	1	5	rs372658014		C3N-02089_TP	C3N-02089_NB	A	A																c.4227T>G	p.His1409Gln	p.H1409Q	ENST00000245503	31/40	159	119	40	187	187	0	strelka-varscan-mutect	MYH2,missense_variant,p.His1409Gln,ENST00000245503,NM_017534.5;MYH2,missense_variant,p.His1409Gln,ENST00000397183,NM_001100112.1;MYH2,intron_variant,,ENST00000532183,;MYH2,intron_variant,,ENST00000622564,;MYHAS,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;	C	ENST00000245503	Transcript	missense_variant	4612/6339	4227/5826	1409/1941	H/Q	caT/caG	rs372658014	1		-1	MYH2	HGNC	HGNC:7572	protein_coding	YES	CCDS11156.1	ENSP00000245503	Q9UKX2		UPI000012FB6C	NM_017534.5	tolerated(0.69)		31/40		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576																	MODERATE	1	SNV	1			1										PASS		rs372658014	.												C	3	2	90	10525837	10525837	A	C	1	0	0	0	0	1	0	0	0	10035	214	8	5		5	MYH2	17	10525837	Missense_Mutation	SNP	A	C3N-02089_TP	29720	10525837	72731604	836	29633											
HS3ST3B1	0	.	GRCh38	chr17	14301784	14301784	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggacgccccccaggctgcCgttccgggcgccgccagcca	4	3	14	20	6	0	0	0	0	0	0	1	1	1	1	8	3	2	2	8	3	0	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.266C>A	p.Pro89Gln	p.P89Q	ENST00000360954	1/2	154	137	17	128	128	0	strelka-varscan-mutect	HS3ST3B1,missense_variant,p.Pro89Gln,ENST00000360954,NM_006041.2;RP11-214O1.1,upstream_gene_variant,,ENST00000571192,;RP11-214O1.2,upstream_gene_variant,,ENST00000583262,;HS3ST3B1,missense_variant,p.Pro89Gln,ENST00000466596,;	A	ENST00000360954	Transcript	missense_variant	702/5367	266/1173	89/390	P/Q	cCg/cAg		1		1	HS3ST3B1	HGNC	HGNC:5198	protein_coding	YES	CCDS11167.1	ENSP00000354213	Q9Y662		UPI0000038167	NM_006041.2	tolerated_low_confidence(0.65)		1/2		hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	14301784	14301784	C	A	1	0	0	0	0	1	0	0	0	7260	652	23	1		1	HS3ST3B1	17	14301784	Missense_Mutation	SNP	C	C3N-02089_TP	3775947	14301784	68955657	837	29634											
FBXW10	0	.	GRCh38	chr17	18768668	18768668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcctgatggccttcaaGcatcccaagtaggtgcctgt	7	10	11	13	1	1	1	1	1	0	0	2	1	2	1	4	2	3	3	4	2	3	2	rs760267143		C3N-02089_TP	C3N-02089_NB	G	G																c.1839G>T	p.Lys613Asn	p.K613N	ENST00000395665	10/14	168	155	13	156	156	0	varscan-mutect	FBXW10,missense_variant,p.Lys642Asn,ENST00000308799,;FBXW10,missense_variant,p.Lys613Asn,ENST00000395665,NM_001267585.1;FBXW10,missense_variant,p.Lys613Asn,ENST00000301938,NM_001267586.1;FBXW10,upstream_gene_variant,,ENST00000573605,;FBXW10,3_prime_UTR_variant,,ENST00000574478,;	T	ENST00000395665	Transcript	missense_variant	2060/3431	1839/3159	613/1052	K/N	aaG/aaT	rs760267143	1		1	FBXW10	HGNC	HGNC:1211	protein_coding	YES	CCDS11199.3	ENSP00000379025	Q5XX13		UPI0000200B30	NM_001267585.1	deleterious(0)		10/14		PROSITE_profiles:PS50294,hmmpanther:PTHR19872,hmmpanther:PTHR19872:SF7,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		rs760267143	.												T	3	4	90	18768668	18768668	G	T	1	0	0	0	0	1	0	0	0	5626	962	34	2		2	FBXW10	17	18768668	Missense_Mutation	SNP	G	C3N-02089_TP	4466884	18768668	64488773	838	29635											
RNF112	0	.	GRCh38	chr17	19415869	19415869	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagctgagctgcaggcCacggccaaggccttcatgga	9	6	14	12	1	1	1	1	1	0	0	1	3	1	3	3	5	3	3	3	5	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1590C>A	p.=	p.A530A	ENST00000461366	14/14	214	193	21	183	182	1	strelka-varscan-mutect	RNF112,synonymous_variant,p.=,ENST00000461366,NM_007148.4;RNF112,downstream_gene_variant,,ENST00000575165,;AC004448.5,downstream_gene_variant,,ENST00000627753,;AC004448.2,upstream_gene_variant,,ENST00000437646,;snoMe28S-Am2634,upstream_gene_variant,,ENST00000636729,;CTB-187M2.2,upstream_gene_variant,,ENST00000579897,;RNF112,downstream_gene_variant,,ENST00000580109,;RNF112,non_coding_transcript_exon_variant,,ENST00000574782,;RNF112,downstream_gene_variant,,ENST00000574149,;	A	ENST00000461366	Transcript	synonymous_variant	1805/3212	1590/1896	530/631	A	gcC/gcA		1		1	RNF112	HGNC	HGNC:12968	protein_coding	YES	CCDS58529.1	ENSP00000454919	Q9ULX5		UPI00001B0607	NM_007148.4			14/14		Low_complexity_(Seg):seg,hmmpanther:PTHR10751:SF1,hmmpanther:PTHR10751																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	19415869	19415869	C	A	1	0	0	0	0	0	0	0	1	13604	581	21	2		2	RNF112	17	19415869	Silent	SNP	C	C3N-02089_TP	647201	19415869	63841572	839	29636											
MAP2K3	0	.	GRCh38	chr17	21300566	21300566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgaggtggaggctgatGacttggtgaccatctcagaa	10	11	13	7	0	1	5	1	4	1	1	2	6	1	6	1	4	0	1	1	4	1	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.187G>T	p.Asp63Tyr	p.D63Y	ENST00000342679	4/12	361	307	54	331	331	0	strelka-varscan-mutect	MAP2K3,missense_variant,p.Asp63Tyr,ENST00000342679,NM_145109.2;MAP2K3,missense_variant,p.Asp34Tyr,ENST00000361818,NM_002756.4;MAP2K3,missense_variant,p.Asp34Tyr,ENST00000613338,;MAP2K3,missense_variant,p.Asp34Tyr,ENST00000316920,;MAP2K3,missense_variant,p.Asp34Tyr,ENST00000526076,;MAP2K3,downstream_gene_variant,,ENST00000529517,;MAP2K3,downstream_gene_variant,,ENST00000627447,;MAP2K3,missense_variant,p.Asp63Tyr,ENST00000496046,;MAP2K3,3_prime_UTR_variant,,ENST00000395491,NM_001316332.1;MAP2K3,3_prime_UTR_variant,,ENST00000479129,;MAP2K3,non_coding_transcript_exon_variant,,ENST00000583508,;MAP2K3,downstream_gene_variant,,ENST00000483928,;	T	ENST00000342679	Transcript	missense_variant	436/2303	187/1044	63/347	D/Y	Gac/Tac		1		1	MAP2K3	HGNC	HGNC:6843	protein_coding	YES	CCDS11217.1	ENSP00000345083	P46734	Q6FI23	UPI000012F48C	NM_145109.2	deleterious(0)		4/12		Gene3D:3.30.200.20,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF191,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		rs1011375302	.												T	3	4	90	21300566	21300566	G	T	1	0	0	0	0	1	0	0	0	9160	1290	45	2		2	MAP2K3	17	21300566	Missense_Mutation	SNP	G	C3N-02089_TP	1884697	21300566	61956875	840	29637											
KCNJ12	0	.	GRCh38	chr17	21416023	21416023	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacattgtggaggcccaTgtgcgcgcgcagctcatcaa	9	7	12	13	3	2	0	2	0	0	0	2	1	2	1	2	2	3	2	2	2	1	1	rs782231681		C3N-02089_TP	C3N-02089_NB	T	T																c.681T>C	p.=	p.H227H	ENST00000583088	3/3	137	124	13	126	126	0	varscan-mutect	KCNJ12,synonymous_variant,p.=,ENST00000583088,NM_021012.4;KCNJ12,synonymous_variant,p.=,ENST00000331718,;	C	ENST00000583088	Transcript	synonymous_variant	1576/5425	681/1302	227/433	H	caT/caC	rs782231681	1		1	KCNJ12	HGNC	HGNC:6258	protein_coding	YES	CCDS11219.1	ENSP00000463778	Q14500		UPI00000725C7	NM_021012.4			3/3		hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Gene3D:2.60.40.1400,Pfam_domain:PF01007,Superfamily_domains:SSF81296																	LOW	1	SNV	1			1										PASS		rs782231681	.												C	2	2	90	21416023	21416023	T	C	1	0	0	0	0	0	0	0	1	7962	1461	51	5		5	KCNJ12	17	21416023	Silent	SNP	T	C3N-02089_TP	115457	21416023	61841418	841	29638											
C17orf51	0	.	GRCh38	chr17	21535507	21535507	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgcttctcttgtctttTctttcatgtttgtggggcag	2	19	13	7	0	4	0	1	0	3	0	5	0	4	0	0	4	1	3	0	4	0	6	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.459A>G	p.=	p.R153R	ENST00000391411	2/2	99	79	20	103	103	0	strelka-varscan-mutect	C17orf51,synonymous_variant,p.=,ENST00000391411,NM_001113434.4;C17orf51,3_prime_UTR_variant,,ENST00000412778,;RP11-822E23.2,intron_variant,,ENST00000579239,;RP11-822E23.8,non_coding_transcript_exon_variant,,ENST00000426261,;RP11-822E23.8,non_coding_transcript_exon_variant,,ENST00000468381,;C17orf51,non_coding_transcript_exon_variant,,ENST00000535846,;C17orf51,upstream_gene_variant,,ENST00000538604,;	C	ENST00000391411	Transcript	synonymous_variant	717/7914	459/666	153/221	R	agA/agG		1		-1	C17orf51	HGNC	HGNC:27904	protein_coding	YES	CCDS45629.1	ENSP00000384286	A8MQB3		UPI00001A832D	NM_001113434.4			2/2																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	21535507	21535507	T	C	1	0	0	0	0	0	0	0	1	1882	1780	62	5		5	C17orf51	17	21535507	Silent	SNP	T	C3N-02089_TP	119484	21535507	61721934	842	29639											
SARM1	0	.	GRCh38	chr17	28381591	28381591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaaggaggtggagcgcgagGtggagcgctcgggcacgctg	8	4	20	9	5	0	0	0	0	0	0	1	4	0	3	0	6	2	3	0	6	1	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.859G>T	p.Val287Leu	p.V287L	ENST00000585482	2/9	145	105	40	93	93	0	strelka-varscan-mutect	SARM1,missense_variant,p.Val287Leu,ENST00000585482,NM_015077.3;SARM1,upstream_gene_variant,,ENST00000578128,;SARM1,non_coding_transcript_exon_variant,,ENST00000379061,;CTB-96E2.3,non_coding_transcript_exon_variant,,ENST00000591482,;SARM1,upstream_gene_variant,,ENST00000585453,;SARM1,upstream_gene_variant,,ENST00000577870,;SARM1,upstream_gene_variant,,ENST00000582323,;	T	ENST00000585482	Transcript	missense_variant	1230/10309	859/2175	287/724	V/L	Gtg/Ttg		1		1	SARM1	HGNC	HGNC:17074	protein_coding	YES		ENSP00000468032	Q6SZW1		UPI000021FB54	NM_015077.3	deleterious(0.03)		2/9		hmmpanther:PTHR22998,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs1042000746	.												T	3	4	90	28381591	28381591	G	T	1	0	0	0	0	1	0	0	0	14103	1261	44	2		2	SARM1	17	28381591	Missense_Mutation	SNP	G	C3N-02089_TP	6846084	28381591	54875850	843	29640											
FAM222B	0	.	GRCh38	chr17	28759124	28759124	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtgctgatgcctgcccTcgtctggcaaaactggttga	7	11	13	10	1	1	2	0	2	1	0	2	2	1	2	2	3	4	4	2	3	3	2	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.835A>T	p.Arg279Trp	p.R279W	ENST00000581407	3/3	383	346	37	322	321	1	strelka-varscan-mutect	FAM222B,missense_variant,p.Arg279Trp,ENST00000581407,NM_001288632.1,NM_018182.3,NM_001077498.2,NM_001288635.1,NM_001288633.1;FAM222B,missense_variant,p.Arg151Trp,ENST00000341217,NM_001288639.1,NM_001288636.1,NM_001288637.1,NM_001288638.1,NM_001288640.1;FAM222B,missense_variant,p.Arg279Trp,ENST00000452648,NM_001288634.1;FAM222B,3_prime_UTR_variant,,ENST00000582266,;FAM222B,downstream_gene_variant,,ENST00000583307,;FAM222B,downstream_gene_variant,,ENST00000577513,;FAM222B,downstream_gene_variant,,ENST00000577376,;FAM222B,downstream_gene_variant,,ENST00000581229,;FAM222B,downstream_gene_variant,,ENST00000584059,;FAM222B,downstream_gene_variant,,ENST00000583953,;FAM222B,downstream_gene_variant,,ENST00000582059,;FAM222B,downstream_gene_variant,,ENST00000581381,;FAM222B,downstream_gene_variant,,ENST00000583522,;FAM222B,downstream_gene_variant,,ENST00000577682,;FAM222B,downstream_gene_variant,,ENST00000579381,;	A	ENST00000581407	Transcript	missense_variant	1017/4161	835/1689	279/562	R/W	Agg/Tgg		1		-1	FAM222B	HGNC	HGNC:25563	protein_coding	YES	CCDS45637.1	ENSP00000462419	Q8WU58	A0A024QZ60	UPI000006F01C	NM_001288632.1,NM_018182.3,NM_001077498.2,NM_001288635.1,NM_001288633.1	deleterious(0)		3/3		hmmpanther:PTHR16070,hmmpanther:PTHR16070:SF1,Pfam_domain:PF15258																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	28759124	28759124	T	A	1	0	0	0	0	1	0	0	0	5417	1550	54	4		4	FAM222B	17	28759124	Missense_Mutation	SNP	T	C3N-02089_TP	377533	28759124	54498317	844	29641											
ABHD15	0	.	GRCh38	chr17	29566775	29566775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccctcccggcagtggCtcgcgcccgtcgctgaactg	4	7	12	18	5	0	1	0	1	0	0	3	1	1	1	3	2	2	4	3	2	1	0	rs759500284		C3N-02089_TP	C3N-02089_NB	C	C																c.192G>A	p.=	p.E64E	ENST00000307201	1/2	141	107	34	136	136	0	strelka-varscan-mutect	ABHD15,synonymous_variant,p.=,ENST00000307201,NM_198147.2;TP53I13,upstream_gene_variant,,ENST00000301057,NM_138349.2;TP53I13,upstream_gene_variant,,ENST00000578749,;TP53I13,upstream_gene_variant,,ENST00000581411,;TP53I13,upstream_gene_variant,,ENST00000580183,;TP53I13,upstream_gene_variant,,ENST00000582829,;TP53I13,upstream_gene_variant,,ENST00000583940,;ABHD15-AS1,intron_variant,,ENST00000581474,;RP11-68I3.4,upstream_gene_variant,,ENST00000579050,;TP53I13,intron_variant,,ENST00000584522,;TP53I13,intron_variant,,ENST00000578073,;TP53I13,upstream_gene_variant,,ENST00000579674,;TP53I13,upstream_gene_variant,,ENST00000577934,;TP53I13,upstream_gene_variant,,ENST00000580132,;	T	ENST00000307201	Transcript	synonymous_variant	363/3592	192/1407	64/468	E	gaG/gaA	rs759500284	1		-1	ABHD15	HGNC	HGNC:26971	protein_coding	YES	CCDS32602.1	ENSP00000302657	Q6UXT9		UPI00001C1FC9	NM_198147.2			1/2		hmmpanther:PTHR10794:SF39,hmmpanther:PTHR10794																	LOW	1	SNV	1			1										PASS		rs759500284	.												T	2	4	90	29566775	29566775	C	T	1	0	0	0	0	0	0	0	1	85	796	28	3		3	ABHD15	17	29566775	Silent	SNP	C	C3N-02089_TP	807651	29566775	53690666	845	29642											
ATAD5	0	.	GRCh38	chr17	30840655	30840655	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacatatcaaaagcaaaacaAttgattgaaaaagcaaaagc	24	6	5	6	0	1	2	1	2	0	0	1	2	1	2	0	0	5	2	0	0	11	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.2115A>C	p.Gln705His	p.Q705H	ENST00000321990	4/23	166	144	22	157	157	0	strelka-varscan-mutect	ATAD5,missense_variant,p.Gln705His,ENST00000321990,NM_024857.4;CTD-2349P21.11,intron_variant,,ENST00000580873,;ATAD5,missense_variant,p.Gln705His,ENST00000578295,;ATAD5,non_coding_transcript_exon_variant,,ENST00000585133,;	C	ENST00000321990	Transcript	missense_variant	2493/6869	2115/5535	705/1844	Q/H	caA/caC		1		1	ATAD5	HGNC	HGNC:25752	protein_coding	YES	CCDS11260.1	ENSP00000313171	Q96QE3		UPI0000071E9E	NM_024857.4	deleterious(0)		4/23		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	30840655	30840655	A	C	1	0	0	0	0	1	0	0	0	1224	98	4	5		5	ATAD5	17	30840655	Missense_Mutation	SNP	A	C3N-02089_TP	1273880	30840655	52416786	846	29643											
TMEM132E	0	.	GRCh38	chr17	34637862	34637862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaaggagagctgtcgcCgccagcaggcaacccgctgg	8	4	16	13	3	0	1	0	0	0	1	1	2	0	1	3	4	4	5	3	4	2	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2585C>A	p.Pro862Gln	p.P862Q	ENST00000321639	10/10	122	103	19	98	98	0	strelka-varscan-mutect	TMEM132E,missense_variant,p.Pro952Gln,ENST00000631683,NM_001304438.1;TMEM132E,missense_variant,p.Pro862Gln,ENST00000321639,;TMEM132E,downstream_gene_variant,,ENST00000577271,;	A	ENST00000321639	Transcript	missense_variant	2913/4369	2585/2955	862/984	P/Q	cCg/cAg		1		1	TMEM132E	HGNC	HGNC:26991	protein_coding	YES		ENSP00000316532	Q6IEE7		UPI000035960F		tolerated(0.07)		10/10		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF7																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	34637862	34637862	C	A	1	0	0	0	0	1	0	0	0	16493	652	23	1		1	TMEM132E	17	34637862	Missense_Mutation	SNP	C	C3N-02089_TP	3797207	34637862	48619579	847	29644											
TBC1D3B	0	.	GRCh38	chr17	36169115	36169115	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttggattgtgacgtggctaCcacatgctcctgttggtctt	5	15	11	10	1	1	1	0	1	1	0	2	2	2	2	2	3	2	3	2	3	1	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.727G>C	p.Val243Leu	p.V243L	ENST00000611257	10/14	1290	1207	83	1152	1152	0	varscan-mutect	TBC1D3B,missense_variant,p.Val243Leu,ENST00000611257,NM_001001417.6;TBC1D3B,downstream_gene_variant,,ENST00000616006,;CTB-91J4.1,intron_variant,,ENST00000617914,;TBC1D3B,downstream_gene_variant,,ENST00000622280,;TBC1D3B,downstream_gene_variant,,ENST00000610580,;	G	ENST00000611257	Transcript	missense_variant	844/2081	727/1650	243/549	V/L	Gta/Cta		1		-1	TBC1D3B	HGNC	HGNC:27011	protein_coding	YES	CCDS42300.1	ENSP00000478473	A6NDS4		UPI000292EEF0	NM_001001417.6	tolerated(1)		10/14		Pfam_domain:PF00566,PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF233,SMART_domains:SM00164,Superfamily_domains:SSF47923																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	36169115	36169115	C	G	1	0	0	0	0	1	0	0	0	16023	507	18	4		4	TBC1D3B	17	36169115	Missense_Mutation	SNP	C	C3N-02089_TP	1531253	36169115	47088326	848	29645											
ACACA	0	.	GRCh38	chr17	37192208	37192208	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcatcttgtgattagcaCatggaatggcagtgaggtca	10	11	14	6	0	2	2	1	2	1	0	2	3	2	3	0	4	2	3	0	4	2	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.4298G>T	p.Cys1433Phe	p.C1433F	ENST00000616317	37/56	382	271	111	425	424	1	strelka-varscan-mutect	ACACA,missense_variant,p.Cys1433Phe,ENST00000616317,NM_198834.2;ACACA,missense_variant,p.Cys1338Phe,ENST00000612895,NM_198837.1;ACACA,missense_variant,p.Cys1396Phe,ENST00000614428,NM_198836.2,NM_198839.2;ACACA,missense_variant,p.Cys1318Phe,ENST00000617649,NM_198838.1;ACACA,missense_variant,p.Cys97Phe,ENST00000619546,;ACACA,non_coding_transcript_exon_variant,,ENST00000619245,;ACACA,upstream_gene_variant,,ENST00000618575,;	A	ENST00000616317	Transcript	missense_variant	4779/9961	4298/7152	1433/2383	C/F	tGt/tTt		1		-1	ACACA	HGNC	HGNC:84	protein_coding	YES	CCDS42302.1	ENSP00000483300	Q13085		UPI00002263AC	NM_198834.2	deleterious(0.01)		37/56		hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF97,Pfam_domain:PF08326																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	37192208	37192208	C	A	1	0	0	0	0	1	0	0	0	149	478	17	2		2	ACACA	17	37192208	Missense_Mutation	SNP	C	C3N-02089_TP	1023093	37192208	46065233	849	29646											
SRCIN1	0	.	GRCh38	chr17	38558359	38558359	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcatgctcagctctgccTccgtgcgcttcagcagcgcg	4	8	12	17	6	3	0	2	0	1	0	4	0	4	0	2	0	6	5	2	0	0	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.2069A>T	p.Glu690Val	p.E690V	ENST00000617146	11/19	213	168	45	151	151	0	strelka-varscan-mutect	SRCIN1,missense_variant,p.Glu690Val,ENST00000617146,NM_025248.2;SRCIN1,missense_variant,p.Glu724Val,ENST00000621492,;SRCIN1,missense_variant,p.Glu478Val,ENST00000622190,;SRCIN1,downstream_gene_variant,,ENST00000612431,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000621763,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000622519,;SRCIN1,non_coding_transcript_exon_variant,,ENST00000612208,;	A	ENST00000617146	Transcript	missense_variant	2294/7058	2069/3552	690/1183	E/V	gAg/gTg		1		-1	SRCIN1	HGNC	HGNC:29506	protein_coding	YES	CCDS45660.1	ENSP00000484715	Q9C0H9		UPI0000E27F82	NM_025248.2	deleterious(0)		11/19		hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF5																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	90	38558359	38558359	T	A	1	0	0	0	0	1	0	0	0	15494	1551	54	4		4	SRCIN1	17	38558359	Missense_Mutation	SNP	T	C3N-02089_TP	1366151	38558359	44699082	850	29647											
C17orf98	0	.	GRCh38	chr17	38841208	38841208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttttccgcaaaaggggcGgaaccacgtgactctggaag	11	7	13	10	3	1	1	0	1	1	0	2	3	2	3	2	4	1	2	2	4	4	2	rs7210156		C3N-02089_TP	C3N-02089_NB	G	G																c.182C>A	p.Pro61Gln	p.P61Q	ENST00000614158	1/3	112	92	20	106	106	0	strelka-varscan-mutect	C17orf98,missense_variant,p.Pro61Gln,ENST00000614158,NM_001080465.2;	T	ENST00000614158	Transcript	missense_variant	248/632	182/465	61/154	P/Q	cCg/cAg	rs7210156	1		-1	C17orf98	HGNC	HGNC:34492	protein_coding	YES	CCDS42310.1	ENSP00000479396	A8MV24		UPI00001D79E1	NM_001080465.2	tolerated(0.29)		1/3		Pfam_domain:PF15075,hmmpanther:PTHR34221																	MODERATE	1	SNV	2			1										PASS		rs7210156	.												T	3	4	90	38841208	38841208	G	T	1	0	0	0	0	1	0	0	0	1895	1116	39	1		1	C17orf98	17	38841208	Missense_Mutation	SNP	G	C3N-02089_TP	282849	38841208	44416233	851	29648											
KRT222	0	.	GRCh38	chr17	40656548	40656548	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagatcaaatcgaagagAaacagactttttcctcaatc	17	10	6	8	1	2	4	2	1	0	3	5	6	3	4	1	0	1	0	1	0	5	2	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.742T>G	p.Ser248Ala	p.S248A	ENST00000394052	6/6	280	247	33	271	271	0	strelka-varscan-mutect	KRT222,missense_variant,p.Ser248Ala,ENST00000394052,NM_152349.2;RP5-1028K7.3,missense_variant,p.Ser248Ala,ENST00000476049,;KRT222,3_prime_UTR_variant,,ENST00000394049,;KRT222,downstream_gene_variant,,ENST00000581564,;KRT222,downstream_gene_variant,,ENST00000580719,;	C	ENST00000394052	Transcript	missense_variant	784/1712	742/888	248/295	S/A	Tct/Gct		1		-1	KRT222	HGNC	HGNC:28695	protein_coding	YES	CCDS11371.1	ENSP00000377616	Q8N1A0		UPI0000072F8A	NM_152349.2	deleterious(0)		6/6																			MODERATE	1	SNV	1			1										PASS		rs1184499878	.												C	3	2	90	40656548	40656548	A	C	1	0	0	0	0	1	0	0	0	8341	246	9	5		5	KRT222	17	40656548	Missense_Mutation	SNP	A	C3N-02089_TP	1815340	40656548	42600893	852	29649											
KRT28	0	.	GRCh38	chr17	40797219	40797219	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccgcgaggtctaccccCggggccgcgttcatctccac	8	6	10	17	5	3	0	1	0	2	0	4	1	3	0	5	3	2	1	5	3	3	2			C3N-02089_TP	C3N-02089_NB	C	C																c.753G>T	p.=	p.P251P	ENST00000306658	4/8	180	159	21	207	207	0	strelka-varscan-mutect	KRT28,synonymous_variant,p.=,ENST00000306658,NM_181535.3;	A	ENST00000306658	Transcript	synonymous_variant	819/1685	753/1395	251/464	P	ccG/ccT	COSM121114	1		-1	KRT28	HGNC	HGNC:30842	protein_coding	YES	CCDS11376.1	ENSP00000305263	Q7Z3Y7		UPI0000246D70	NM_181535.3			4/8		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF215,Pfam_domain:PF00038,SMART_domains:SM01391,Prints_domain:PR01248											1						LOW	1	SNV	1		1	1										PASS		rs1198821641	.												A	2	1	90	40797219	40797219	C	A	1	0	0	0	0	0	0	0	1	8347	639	23	1		1	KRT28	17	40797219	Silent	SNP	C	C3N-02089_TP	140671	40797219	42460222	853	29650											
ZNF385C	0	.	GRCh38	chr17	42028926	42028926	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggccccggtgcctctCtcccaggctctggggagcaa	5	7	13	16	1	3	0	1	0	2	0	5	1	4	1	4	5	2	3	4	5	1	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.587G>T	p.Arg196Ile	p.R196I	ENST00000618554	5/8	374	314	60	322	321	1	strelka-varscan-mutect	ZNF385C,missense_variant,p.Arg196Ile,ENST00000618554,NM_001242704.1;ZNF385C,missense_variant,p.Arg276Ile,ENST00000436535,;NKIRAS2,downstream_gene_variant,,ENST00000307641,NM_001001349.2;NKIRAS2,downstream_gene_variant,,ENST00000393885,NM_001144927.1,NM_017595.5;NKIRAS2,downstream_gene_variant,,ENST00000393880,;NKIRAS2,downstream_gene_variant,,ENST00000393881,;NKIRAS2,downstream_gene_variant,,ENST00000449471,NM_001144928.1;NKIRAS2,downstream_gene_variant,,ENST00000479407,NM_001144929.1;NKIRAS2,downstream_gene_variant,,ENST00000316082,;NKIRAS2,downstream_gene_variant,,ENST00000462043,;ZNF385C,upstream_gene_variant,,ENST00000461831,;NKIRAS2,downstream_gene_variant,,ENST00000393879,;ZNF385C,upstream_gene_variant,,ENST00000496039,;NKIRAS2,downstream_gene_variant,,ENST00000491638,;NKIRAS2,downstream_gene_variant,,ENST00000485789,;	A	ENST00000618554	Transcript	missense_variant	587/2596	587/1275	196/424	R/I	aGa/aTa		1		-1	ZNF385C	HGNC	HGNC:33722	protein_coding	YES	CCDS74065.1	ENSP00000480744		A0A087WX54	UPI0001E6F8A9	NM_001242704.1	tolerated(0.19)		5/8		hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF6,Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	90	42028926	42028926	C	A	1	0	0	0	0	1	0	0	0	18450	913	32	2		2	ZNF385C	17	42028926	Missense_Mutation	SNP	C	C3N-02089_TP	1231707	42028926	41228515	854	29651											
KAT2A	0	.	GRCh38	chr17	42121000	42121000	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacccctagcttctcaagcTtcttggcgcgcggcagcccc	6	8	10	17	3	2	1	1	0	2	1	3	1	2	1	4	2	3	3	4	2	2	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.305A>G	p.Lys102Arg	p.K102R	ENST00000225916	1/18	249	219	30	213	210	3	strelka-varscan-mutect	KAT2A,missense_variant,p.Lys102Arg,ENST00000225916,NM_021078.2;CTD-2132N18.3,intron_variant,,ENST00000592574,;HSPB9,upstream_gene_variant,,ENST00000565659,NM_033194.2;RAB5C,downstream_gene_variant,,ENST00000393860,;RAB5C,downstream_gene_variant,,ENST00000346213,NM_004583.3,NM_201434.2;RAB5C,downstream_gene_variant,,ENST00000547517,NM_001252039.1;KAT2A,missense_variant,p.Lys20Arg,ENST00000465682,;CTD-2132N18.3,intron_variant,,ENST00000592248,;CTD-2132N18.3,intron_variant,,ENST00000585562,;KAT2A,upstream_gene_variant,,ENST00000592310,;	C	ENST00000225916	Transcript	missense_variant	359/3109	305/2514	102/837	K/R	aAg/aGg		1		-1	KAT2A	HGNC	HGNC:4201	protein_coding	YES	CCDS11417.1	ENSP00000225916	Q92830		UPI000000D978	NM_021078.2	deleterious(0.04)		1/18		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF124,PIRSF_domain:PIRSF003048,Pfam_domain:PF06466																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	42121000	42121000	T	C	1	0	0	0	0	1	0	0	0	7895	1609	56	5		5	KAT2A	17	42121000	Missense_Mutation	SNP	T	C3N-02089_TP	92074	42121000	41136441	855	29652											
MEOX1	0	.	GRCh38	chr17	43661506	43661506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggggctggaggctcCtcatgcagctgctggccgcg	3	7	19	12	2	1	0	1	0	0	0	2	1	2	1	2	6	3	6	2	6	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.29G>A	p.Arg10Lys	p.R10K	ENST00000318579	1/3	71	52	19	67	67	0	strelka-varscan-mutect	MEOX1,missense_variant,p.Arg10Lys,ENST00000318579,NM_004527.3;MEOX1,missense_variant,p.Arg10Lys,ENST00000329168,NM_013999.3;MEOX1,5_prime_UTR_variant,,ENST00000549132,;MEOX1,intron_variant,,ENST00000393661,NM_001040002.1;	T	ENST00000318579	Transcript	missense_variant	449/2707	29/765	10/254	R/K	aGg/aAg		1		-1	MEOX1	HGNC	HGNC:7013	protein_coding	YES	CCDS11466.1	ENSP00000321684	P50221		UPI000012F410	NM_004527.3	deleterious(0.01)		1/3		hmmpanther:PTHR24328:SF8,hmmpanther:PTHR24328																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	43661506	43661506	C	T	1	0	0	0	0	1	0	0	0	9418	681	24	3		3	MEOX1	17	43661506	Missense_Mutation	SNP	C	C3N-02089_TP	1540506	43661506	39595935	856	29653											
FZD2	0	.	GRCh38	chr17	44558772	44558772	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccggcatgaagtggggcCacgaggccatcgaggccaac	10	3	15	13	3	0	1	0	1	0	0	1	3	0	1	4	5	2	1	4	5	2	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1084C>A	p.His362Asn	p.H362N	ENST00000315323	1/1	223	161	62	177	177	0	strelka-varscan-mutect	FZD2,missense_variant,p.His362Asn,ENST00000315323,NM_001466.3;	A	ENST00000315323	Transcript	missense_variant	1314/2112	1084/1698	362/565	H/N	Cac/Aac		1		1	FZD2	HGNC	HGNC:4040	protein_coding	YES	CCDS11484.1	ENSP00000323901	Q14332		UPI0000050444	NM_001466.3	tolerated(0.51)		1/1		Pfam_domain:PF01534,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF34,SMART_domains:SM01330																	MODERATE	1	SNV				1										PASS		rs1220274619	.												A	3	1	90	44558772	44558772	C	A	1	0	0	0	0	1	0	0	0	6001	594	21	2		2	FZD2	17	44558772	Missense_Mutation	SNP	C	C3N-02089_TP	897266	44558772	38698669	857	29654											
MRPL10	0	.	GRCh38	chr17	47826697	47826697	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctccttgaccttgggctCttcactgaccagcagcatgt	7	12	8	14	0	3	2	1	2	2	0	4	2	3	2	3	1	2	3	3	1	0	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.502G>C	p.Glu168Gln	p.E168Q	ENST00000290208	4/5	223	209	14	221	221	0	varscan-mutect	MRPL10,missense_variant,p.Glu168Gln,ENST00000290208,;MRPL10,missense_variant,p.Glu158Gln,ENST00000351111,NM_145255.3;MRPL10,missense_variant,p.Glu168Gln,ENST00000414011,NM_148887.2;OSBPL7,upstream_gene_variant,,ENST00000007414,NM_145798.2;OSBPL7,upstream_gene_variant,,ENST00000392507,;OSBPL7,upstream_gene_variant,,ENST00000613735,;LRRC46,upstream_gene_variant,,ENST00000269025,NM_033413.3;MRPL10,3_prime_UTR_variant,,ENST00000421763,;OSBPL7,upstream_gene_variant,,ENST00000580140,;LRRC46,upstream_gene_variant,,ENST00000579971,;OSBPL7,upstream_gene_variant,,ENST00000580226,;LRRC46,upstream_gene_variant,,ENST00000579742,;OSBPL7,upstream_gene_variant,,ENST00000585051,;MRPL10,downstream_gene_variant,,ENST00000423147,;MRPL10,downstream_gene_variant,,ENST00000480901,;MRPL10,downstream_gene_variant,,ENST00000466016,;	G	ENST00000290208	Transcript	missense_variant	955/2013	502/816	168/271	E/Q	Gag/Cag		1		-1	MRPL10	HGNC	HGNC:14055	protein_coding	YES	CCDS11517.1	ENSP00000290208	Q7Z7H8		UPI000013DFCA		deleterious(0.04)		4/5		hmmpanther:PTHR11560:SF8,hmmpanther:PTHR11560,Pfam_domain:PF00466,Superfamily_domains:0053665																	MODERATE		SNV	2			1										PASS		.	.												G	3	3	90	47826697	47826697	C	G	1	0	0	0	0	1	0	0	0	9750	922	32	4		4	MRPL10	17	47826697	Missense_Mutation	SNP	C	C3N-02089_TP	3267925	47826697	35430744	858	29655											
CA10	0	.	GRCh38	chr17	52072334	52072334	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttacctggaacaaagcttcCctggaccacctccttgtatg	9	11	7	14	0	0	0	0	0	0	0	2	2	2	2	5	2	3	2	5	2	4	4			C3N-02089_TP	C3N-02089_NB	C	C																c.121G>T	p.Gly41Ter	p.G41*	ENST00000451037	2/9	204	170	34	228	227	1	strelka-varscan-mutect	CA10,stop_gained,p.Gly41Ter,ENST00000451037,NM_020178.4;CA10,stop_gained,p.Gly41Ter,ENST00000442502,NM_001082534.1;CA10,stop_gained,p.Gly41Ter,ENST00000285273,NM_001082533.1;CA10,stop_gained,p.Gly41Ter,ENST00000575181,;CA10,5_prime_UTR_variant,,ENST00000570565,;CA10,non_coding_transcript_exon_variant,,ENST00000573294,;CA10,3_prime_UTR_variant,,ENST00000571371,;	A	ENST00000451037	Transcript	stop_gained	1062/3189	121/987	41/328	G/*	Gga/Tga	COSM3519556,COSM3519557	1		-1	CA10	HGNC	HGNC:1369	protein_coding	YES	CCDS32684.1	ENSP00000405388	Q9NS85		UPI000000167C	NM_020178.4			2/9		PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF91,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												A	4	1	90	52072334	52072334	C	A	1	0	0	0	0	0	1	0	0	2197	632	22	2		2	CA10	17	52072334	Nonsense_Mutation	SNP	C	C3N-02089_TP	4245637	52072334	31185107	859	29656											
LPO	0	.	GRCh38	chr17	58244017	58244017	+	Frame_Shift_Del	DEL	A	A	-																															agactaccagaacctctgccAtctccgatactgtgagtcag																								rs756204121		C3N-02089_TP	C3N-02089_NB	A	A																c.100delA	p.Ile34SerfsTer5	p.I34Sfs*5	ENST00000262290	3/13	178	159	19	174	174	0	varindel-pindel	LPO,frameshift_variant,p.Ile34SerfsTer5,ENST00000262290,NM_006151.2;LPO,intron_variant,,ENST00000421678,NM_001160102.1;LPO,intron_variant,,ENST00000582328,;LPO,intron_variant,,ENST00000543544,;LPO,intron_variant,,ENST00000581008,;LPO,non_coding_transcript_exon_variant,,ENST00000578643,;LPO,non_coding_transcript_exon_variant,,ENST00000578403,;LPO,non_coding_transcript_exon_variant,,ENST00000582684,;LPO,intron_variant,,ENST00000580346,;	-	ENST00000262290	Transcript	frameshift_variant	416/2979	100/2139	34/712	I/X	Atc/tc	rs756204121	1		1	LPO	HGNC	HGNC:6678	protein_coding	YES	CCDS32689.1	ENSP00000262290	P22079		UPI0000131631	NM_006151.2			3/13		hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF67																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	90	58244017	58244017	A	-	1	0	1	0	1	0	0	0	0	8821	217	8	0		0	LPO	17	58244017	Frame_Shift_Del	DEL	A	C3N-02089_TP	6171683	58244017	25013424	860	29657											
TSPOAP1	0	.	GRCh38	chr17	58312442	58312442	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaccaccagacggcggggGtaaggcacggcaggaggctc	10	2	18	11	3	0	1	0	0	0	1	1	3	0	3	2	8	0	4	2	8	1	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2379C>A	p.Tyr793Ter	p.Y793*	ENST00000343736	17/32	106	91	15	97	97	0	strelka-varscan-mutect	TSPOAP1,stop_gained,p.Tyr733Ter,ENST00000268893,NM_024418.2;TSPOAP1,stop_gained,p.Tyr793Ter,ENST00000343736,NM_001261835.1,NM_004758.3;TSPOAP1,upstream_gene_variant,,ENST00000582679,;TSPOAP1,upstream_gene_variant,,ENST00000580669,;TSPOAP1,upstream_gene_variant,,ENST00000578486,;TSPOAP1,upstream_gene_variant,,ENST00000585149,;	T	ENST00000343736	Transcript	stop_gained	2543/5947	2379/5574	793/1857	Y/*	taC/taA		1		-1	TSPOAP1	HGNC	HGNC:16831	protein_coding	YES	CCDS11605.1	ENSP00000345824	O95153		UPI000013D7E3	NM_001261835.1,NM_004758.3			17/32		PROSITE_profiles:PS50853,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF20,SMART_domains:SM00060																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	90	58312442	58312442	G	T	1	0	0	0	0	0	1	0	0	17163	1256	44	2		2	TSPOAP1	17	58312442	Nonsense_Mutation	SNP	G	C3N-02089_TP	68425	58312442	24944999	861	29658											
PRR11	0	.	GRCh38	chr17	59185159	59185159	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaataaaactttggacaaaTagagtatggtctatatacag	17	11	8	5	0	1	1	0	0	1	1	1	2	1	2	0	2	2	2	0	2	9	7	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.234T>A	p.Asn78Lys	p.N78K	ENST00000262293	3/10	173	128	45	193	193	0	strelka-varscan-mutect	PRR11,missense_variant,p.Asn78Lys,ENST00000262293,NM_018304.3;PRR11,missense_variant,p.Asn78Lys,ENST00000614081,;PRR11,missense_variant,p.Asn78Lys,ENST00000578777,;PRR11,missense_variant,p.Asn105Lys,ENST00000582995,;PRR11,missense_variant,p.Asn78Lys,ENST00000578542,;PRR11,missense_variant,p.Asn78Lys,ENST00000580177,;PRR11,non_coding_transcript_exon_variant,,ENST00000581182,;SPDYE22P,upstream_gene_variant,,ENST00000582158,;	A	ENST00000262293	Transcript	missense_variant	546/2332	234/1083	78/360	N/K	aaT/aaA		1		1	PRR11	HGNC	HGNC:25619	protein_coding	YES	CCDS11614.1	ENSP00000262293	Q96HE9	D2SNZ4	UPI000006FA82	NM_018304.3	tolerated(0.36)		3/10		hmmpanther:PTHR23330																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	59185159	59185159	T	A	1	0	0	0	0	1	0	0	0	12718	1403	49	4		4	PRR11	17	59185159	Missense_Mutation	SNP	T	C3N-02089_TP	872717	59185159	24072282	862	29659											
KCNH6	0	.	GRCh38	chr17	63544043	63544043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggggccccagttcccCtctaagggctacagcctcct	6	8	11	16	0	1	0	0	0	1	0	3	1	3	0	6	3	3	3	6	3	2	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2265C>T	p.=	p.P755P	ENST00000583023	11/14	56	40	16	42	42	0	strelka-varscan-mutect	KCNH6,synonymous_variant,p.=,ENST00000583023,NM_030779.3;KCNH6,intron_variant,,ENST00000314672,NM_001278919.1,NM_001278920.1;KCNH6,intron_variant,,ENST00000581784,NM_173092.2;KCNH6,intron_variant,,ENST00000456941,;KCNH6,intron_variant,,ENST00000583465,;	T	ENST00000583023	Transcript	synonymous_variant	2276/3821	2265/2985	755/994	P	ccC/ccT		1		1	KCNH6	HGNC	HGNC:18862	protein_coding	YES	CCDS11638.1	ENSP00000463533	Q9H252		UPI000012DCAB	NM_030779.3			11/14		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF468																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	63544043	63544043	C	T	1	0	0	0	0	0	0	0	1	7952	668	24	3		3	KCNH6	17	63544043	Silent	SNP	C	C3N-02089_TP	4358884	63544043	19713398	863	29660											
CSHL1	0	.	GRCh38	chr17	63910247	63910247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcatacaccaggttgttgGtgaaggtactcctgaggaac	10	11	12	8	0	1	2	1	2	0	0	2	3	2	3	2	4	3	3	2	4	4	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.386C>A	p.Thr129Asn	p.T129N	ENST00000309894	4/5	339	267	72	388	388	0	strelka-varscan-mutect	CSHL1,missense_variant,p.Thr35Asn,ENST00000450719,;CSHL1,missense_variant,p.Thr46Asn,ENST00000561003,;CSHL1,missense_variant,p.Thr124Asn,ENST00000392824,;CSHL1,missense_variant,p.Thr124Asn,ENST00000611417,;CSHL1,missense_variant,p.Thr67Asn,ENST00000259003,NM_001321068.1;CSHL1,missense_variant,p.Thr129Asn,ENST00000309894,NM_022581.1,NM_022579.1;CSHL1,missense_variant,p.Thr35Asn,ENST00000346606,NM_001318.2;CSHL1,missense_variant,p.Thr46Asn,ENST00000438387,NM_022580.1;CSHL1,non_coding_transcript_exon_variant,,ENST00000558099,;CSHL1,non_coding_transcript_exon_variant,,ENST00000560999,;CSHL1,non_coding_transcript_exon_variant,,ENST00000558609,;	T	ENST00000309894	Transcript	missense_variant	386/669	386/669	129/222	T/N	aCc/aAc		1		-1	CSHL1	HGNC	HGNC:2442	protein_coding	YES	CCDS11652.1	ENSP00000309524	Q14406		UPI00001602B9	NM_022581.1,NM_022579.1	deleterious(0.04)		4/5		Gene3D:1.20.1250.10,Pfam_domain:PF00103,hmmpanther:PTHR11417,hmmpanther:PTHR11417:SF40,Superfamily_domains:SSF47266																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	63910247	63910247	G	T	1	0	0	0	0	1	0	0	0	3743	1261	44	2		2	CSHL1	17	63910247	Missense_Mutation	SNP	G	C3N-02089_TP	366204	63910247	19347194	864	29661											
CEP95	0	.	GRCh38	chr17	64537085	64537085	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacaggaacatcaagaactTaaagccagagagaaatctca	19	6	7	9	0	3	3	3	0	1	3	4	5	3	4	1	1	3	0	1	1	6	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.2262T>G	p.=	p.L754L	ENST00000556440	19/20	202	178	24	219	219	0	strelka-varscan-mutect	CEP95,synonymous_variant,p.=,ENST00000556440,NM_138363.1;CEP95,synonymous_variant,p.=,ENST00000553412,;CEP95,synonymous_variant,p.=,ENST00000583676,;CEP95,3_prime_UTR_variant,,ENST00000553956,;CEP95,non_coding_transcript_exon_variant,,ENST00000581885,;CEP95,non_coding_transcript_exon_variant,,ENST00000580285,;CEP95,non_coding_transcript_exon_variant,,ENST00000581980,;CEP95,downstream_gene_variant,,ENST00000584857,;CEP95,downstream_gene_variant,,ENST00000579637,;CEP95,downstream_gene_variant,,ENST00000582698,;	G	ENST00000556440	Transcript	synonymous_variant	2772/3139	2262/2466	754/821	L	ctT/ctG		1		1	CEP95	HGNC	HGNC:25141	protein_coding	YES	CCDS45763.1	ENSP00000450461	Q96GE4		UPI000006F4B3	NM_138363.1			19/20		hmmpanther:PTHR22545,hmmpanther:PTHR22545:SF0																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	90	64537085	64537085	T	G	1	0	0	0	0	0	0	0	1	2988	1741	61	5		5	CEP95	17	64537085	Silent	SNP	T	C3N-02089_TP	626838	64537085	18720356	865	29662											
LRRC37A3	0	.	GRCh38	chr17	64895952	64895952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccgagttgtagcctcctGgtggactagagaagttccca	9	9	13	10	1	0	1	0	0	0	1	2	5	2	2	4	2	2	3	4	2	3	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1306C>A	p.Gln436Lys	p.Q436K	ENST00000584306	3/14	113	100	13	125	125	0	varscan-mutect	LRRC37A3,missense_variant,p.Gln436Lys,ENST00000584306,NM_199340.3;LRRC37A3,missense_variant,p.Gln436Lys,ENST00000319651,;LRRC37A3,intron_variant,,ENST00000400877,;LRRC37A3,intron_variant,,ENST00000339474,NM_001303255.1;LRRC37A3,intron_variant,,ENST00000581368,;LRRC37A3,upstream_gene_variant,,ENST00000584788,;LRRC37A3,upstream_gene_variant,,ENST00000580464,;RP11-927P21.1,intron_variant,,ENST00000584959,;RP11-927P21.1,intron_variant,,ENST00000577938,;RP11-927P21.1,intron_variant,,ENST00000584131,;RP11-927P21.2,upstream_gene_variant,,ENST00000581622,;LRRC37A3,downstream_gene_variant,,ENST00000577487,;LRRC37A3,downstream_gene_variant,,ENST00000580439,;RP11-927P21.9,downstream_gene_variant,,ENST00000607347,;	T	ENST00000584306	Transcript	missense_variant	1837/5665	1306/4905	436/1634	Q/K	Cag/Aag		1		-1	LRRC37A3	HGNC	HGNC:32427	protein_coding	YES	CCDS32708.1	ENSP00000464535	O60309		UPI00005B2F0A	NM_199340.3	tolerated(0.06)		3/14		hmmpanther:PTHR23045,hmmpanther:PTHR23045:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	64895952	64895952	G	T	1	0	0	0	0	1	0	0	0	8887	1357	47	2		2	LRRC37A3	17	64895952	Missense_Mutation	SNP	G	C3N-02089_TP	358867	64895952	18361489	866	29663											
BPTF	0	.	GRCh38	chr17	67913097	67913097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgaaaaggaggaatccGagaggtcccttattttaatt	12	10	11	8	2	0	1	0	0	0	1	2	5	2	3	3	4	0	0	3	4	5	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.5213G>T	p.Arg1738Leu	p.R1738L	ENST00000306378	11/28	200	174	26	183	183	0	strelka-varscan-mutect	BPTF,missense_variant,p.Arg1864Leu,ENST00000321892,NM_004459.6;BPTF,missense_variant,p.Arg1738Leu,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Arg1725Leu,ENST00000424123,;BPTF,missense_variant,p.Arg1801Leu,ENST00000544778,;	T	ENST00000306378	Transcript	missense_variant	5273/9688	5213/8763	1738/2920	R/L	cGa/cTa		1		1	BPTF	HGNC	HGNC:3581	protein_coding	YES	CCDS11673.1	ENSP00000307208	Q12830		UPI00002263BF	NM_182641.3	tolerated(0.06)		11/28		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF5																	MODERATE	1	SNV	1			1										PASS		rs1264742600	.												T	3	4	90	67913097	67913097	G	T	1	0	0	0	0	1	0	0	0	1664	1058	37	1		1	BPTF	17	67913097	Missense_Mutation	SNP	G	C3N-02089_TP	3017145	67913097	15344344	867	29664											
ABCA5	0	.	GRCh38	chr17	69313221	69313221	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttctatattaggcacttCttcatatttcttatttggat	9	20	6	6	0	4	0	1	0	3	0	4	2	4	1	0	2	0	2	0	2	5	10	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.178G>T	p.Glu60Ter	p.E60*	ENST00000392676	3/39	184	167	17	214	212	2	strelka-varscan-mutect	ABCA5,stop_gained,p.Glu60Ter,ENST00000392676,NM_172232.3;ABCA5,stop_gained,p.Glu60Ter,ENST00000588877,NM_018672.4;ABCA5,stop_gained,p.Glu60Ter,ENST00000593153,;ABCA5,stop_gained,p.Glu60Ter,ENST00000592568,;ABCA5,upstream_gene_variant,,ENST00000589975,;ABCA5,downstream_gene_variant,,ENST00000588665,;ABCA5,downstream_gene_variant,,ENST00000589609,;ABCA5,stop_gained,p.Glu60Ter,ENST00000593253,;ABCA5,stop_gained,p.Glu60Ter,ENST00000587607,;	A	ENST00000392676	Transcript	stop_gained	243/8220	178/4929	60/1642	E/*	Gaa/Taa		1		-1	ABCA5	HGNC	HGNC:35	protein_coding	YES	CCDS11685.1	ENSP00000376443	Q8WWZ7		UPI000013DD9E	NM_172232.3			3/39		hmmpanther:PTHR19229:SF100,hmmpanther:PTHR19229,Pfam_domain:PF12698																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	90	69313221	69313221	C	A	1	0	0	0	0	0	1	0	0	39	922	32	2		2	ABCA5	17	69313221	Nonsense_Mutation	SNP	C	C3N-02089_TP	1400124	69313221	13944220	868	29665											
TMEM94	0	.	GRCh38	chr17	75494745	75494745	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcgtgcgcctcattgaTgggcttgtcaacgcctgcat	7	11	11	12	3	2	1	2	1	0	0	3	2	2	1	2	1	3	2	2	1	1	2	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.2526T>C	p.=	p.D842D	ENST00000314256	19/32	269	232	37	246	246	0	strelka-varscan-mutect	TMEM94,synonymous_variant,p.=,ENST00000314256,NM_001321149.1,NM_014738.4;TMEM94,synonymous_variant,p.=,ENST00000375248,;TMEM94,synonymous_variant,p.=,ENST00000579208,;TMEM94,upstream_gene_variant,,ENST00000577247,;TMEM94,downstream_gene_variant,,ENST00000578853,;TMEM94,downstream_gene_variant,,ENST00000580918,;TMEM94,upstream_gene_variant,,ENST00000584694,;TMEM94,downstream_gene_variant,,ENST00000581252,;TMEM94,upstream_gene_variant,,ENST00000577245,;TMEM94,upstream_gene_variant,,ENST00000618984,;TMEM94,downstream_gene_variant,,ENST00000583795,;TMEM94,non_coding_transcript_exon_variant,,ENST00000585105,;TMEM94,non_coding_transcript_exon_variant,,ENST00000581085,;TMEM94,upstream_gene_variant,,ENST00000579898,;TMEM94,downstream_gene_variant,,ENST00000579241,;TMEM94,upstream_gene_variant,,ENST00000581453,;TMEM94,upstream_gene_variant,,ENST00000581867,;TMEM94,downstream_gene_variant,,ENST00000578624,;TMEM94,upstream_gene_variant,,ENST00000581723,;TMEM94,downstream_gene_variant,,ENST00000583071,;TMEM94,downstream_gene_variant,,ENST00000582843,;TMEM94,downstream_gene_variant,,ENST00000583296,;TMEM94,downstream_gene_variant,,ENST00000580441,;TMEM94,upstream_gene_variant,,ENST00000577194,;TMEM94,downstream_gene_variant,,ENST00000580849,;	C	ENST00000314256	Transcript	synonymous_variant	2920/5213	2526/4071	842/1356	D	gaT/gaC		1		1	TMEM94	HGNC	HGNC:28983	protein_coding	YES	CCDS32732.1	ENSP00000313885	Q12767	A0A024R8S6	UPI0000139439	NM_001321149.1,NM_014738.4			19/32		hmmpanther:PTHR13219,hmmpanther:PTHR13219:SF6																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	75494745	75494745	T	C	1	0	0	0	0	0	0	0	1	16697	1461	51	5		5	TMEM94	17	75494745	Silent	SNP	T	C3N-02089_TP	6181524	75494745	7762696	869	29666											
FBF1	0	.	GRCh38	chr17	75921470	75921470	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcagcaaacaaaaaacaaAccagtggctgagaggtctcc	18	4	9	10	0	1	1	0	1	1	1	2	2	1	1	2	2	5	3	2	2	6	0	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1570+2T>A		p.X524_splice	ENST00000627351		210	186	24	152	152	0	strelka-varscan-mutect	FBF1,splice_donor_variant,,ENST00000586717,NM_001319193.1;FBF1,splice_donor_variant,,ENST00000319129,;FBF1,splice_donor_variant,,ENST00000636174,;FBF1,splice_donor_variant,,ENST00000592193,;FBF1,splice_donor_variant,,ENST00000627351,NM_001080542.1;FBF1,splice_donor_variant,,ENST00000585990,;RP11-552F3.12,splice_donor_variant,,ENST00000593156,;FBF1,splice_donor_variant,,ENST00000586838,;FBF1,upstream_gene_variant,,ENST00000588283,;	T	ENST00000627351	Transcript	splice_donor_variant	-/3402	1570/3402	524/1133				1		-1	FBF1	HGNC	HGNC:24674	protein_coding	YES	CCDS45779.1	ENSP00000486708	Q8TES7		UPI0000DD841F	NM_001080542.1				14/27																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	90	75921470	75921470	A	T	1	0	0	0	0	0	0	1	0	5557	57	2	4		4	FBF1	17	75921470	Splice_Site	SNP	A	C3N-02089_TP	426725	75921470	7335971	870	29667											
GALR2	0	.	GRCh38	chr17	76077143	76077143	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtcaaccccatcgtttaCgcgctggtctccaagcactt	7	11	8	15	4	2	0	1	0	1	0	4	0	2	0	3	1	4	3	3	1	3	3	rs113884061		C3N-02089_TP	C3N-02089_NB	C	C																c.876C>A	p.Tyr292Ter	p.Y292*	ENST00000329003	2/2	633	565	68	468	468	0	strelka-varscan-mutect	GALR2,stop_gained,p.Tyr292Ter,ENST00000329003,NM_003857.3;EXOC7,downstream_gene_variant,,ENST00000589210,NM_001013839.3;EXOC7,downstream_gene_variant,,ENST00000332065,NM_015219.4;SRP68,upstream_gene_variant,,ENST00000307877,NM_014230.3;SRP68,upstream_gene_variant,,ENST00000539137,NM_001260502.1;ZACN,upstream_gene_variant,,ENST00000334586,NM_180990.3;SRP68,upstream_gene_variant,,ENST00000629930,;EXOC7,downstream_gene_variant,,ENST00000591724,;ZACN,intron_variant,,ENST00000591500,;EXOC7,downstream_gene_variant,,ENST00000465252,;ZACN,upstream_gene_variant,,ENST00000590045,;ZACN,upstream_gene_variant,,ENST00000425015,;SRP68,upstream_gene_variant,,ENST00000592704,;ZACN,upstream_gene_variant,,ENST00000421794,;ZACN,upstream_gene_variant,,ENST00000524242,;SRP68,upstream_gene_variant,,ENST00000591272,;	A	ENST00000329003	Transcript	stop_gained	966/1364	876/1164	292/387	Y/*	taC/taA	rs113884061	1		1	GALR2	HGNC	HGNC:4133	protein_coding	YES	CCDS11739.1	ENSP00000329684	O43603		UPI000004B247	NM_003857.3			2/2		Transmembrane_helices:TMhelix,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,PROSITE_profiles:PS50262,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF13,Prints_domain:PR00237																	HIGH	1	SNV	1			1										PASS		rs113884061	.												A	4	1	90	76077143	76077143	C	A	1	0	0	0	0	0	1	0	0	6096	547	19	1		1	GALR2	17	76077143	Nonsense_Mutation	SNP	C	C3N-02089_TP	155673	76077143	7180298	871	29668											
AANAT	0	.	GRCh38	chr17	76469252	76469252	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accctatgtccagagctgtcCctgggctggttcgaggaggg	6	9	15	11	1	0	1	0	0	0	1	3	3	2	2	3	4	1	3	3	4	1	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.378C>A	p.=	p.S126S	ENST00000250615	6/7	270	220	50	272	270	2	strelka-varscan-mutect	AANAT,synonymous_variant,p.=,ENST00000250615,NM_001166579.1;AANAT,synonymous_variant,p.=,ENST00000392492,NM_001088.2;AANAT,synonymous_variant,p.=,ENST00000585649,;RHBDF2,downstream_gene_variant,,ENST00000591885,NM_001005498.3;RHBDF2,downstream_gene_variant,,ENST00000313080,NM_024599.5;RHBDF2,downstream_gene_variant,,ENST00000591860,;AANAT,3_prime_UTR_variant,,ENST00000587798,;RHBDF2,downstream_gene_variant,,ENST00000590168,;RHBDF2,downstream_gene_variant,,ENST00000589582,;	A	ENST00000250615	Transcript	synonymous_variant	1385/1913	378/759	126/252	S	tcC/tcA		1		1	AANAT	HGNC	HGNC:19	protein_coding	YES	CCDS54169.1	ENSP00000250615	Q16613		UPI000153D76E	NM_001166579.1			6/7		PROSITE_profiles:PS51186,hmmpanther:PTHR10908,hmmpanther:PTHR10908:SF2,Gene3D:3.40.630.30,Superfamily_domains:SSF55729																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	76469252	76469252	C	A	1	0	0	0	0	0	0	0	1	20	610	22	2		2	AANAT	17	76469252	Silent	SNP	C	C3N-02089_TP	392109	76469252	6788189	872	29669											
MGAT5B	0	.	GRCh38	chr17	76906117	76906117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggagatggtgcagtgggcgGacattctgactgcactctat	8	10	15	8	1	2	2	0	1	2	1	2	4	2	3	0	4	2	2	0	4	1	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.988G>A	p.Asp330Asn	p.D330N	ENST00000428789	7/16	177	151	26	142	142	0	strelka-varscan-mutect	MGAT5B,missense_variant,p.Asp319Asn,ENST00000569840,NM_001199172.1;MGAT5B,missense_variant,p.Asp319Asn,ENST00000301618,NM_144677.2;MGAT5B,missense_variant,p.Asp330Asn,ENST00000428789,NM_198955.1;MGAT5B,non_coding_transcript_exon_variant,,ENST00000374998,;MGAT5B,missense_variant,p.Asp330Asn,ENST00000565043,;	A	ENST00000428789	Transcript	missense_variant	1091/4053	988/2406	330/801	D/N	Gac/Aac		1		1	MGAT5B	HGNC	HGNC:24140	protein_coding	YES	CCDS45788.1	ENSP00000391227	Q3V5L5		UPI0000231C88	NM_198955.1	deleterious(0)		7/16		Pfam_domain:PF15024,hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	76906117	76906117	G	A	1	0	0	0	0	1	0	0	0	9510	1174	41	3		3	MGAT5B	17	76906117	Missense_Mutation	SNP	G	C3N-02089_TP	436865	76906117	6351324	873	29670											
MGAT5B	0	.	GRCh38	chr17	76925013	76925013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctgcccgctcaccatgcCcctgcccttcgacctcatct	6	9	6	20	2	3	0	2	0	1	0	4	1	3	0	6	0	4	2	6	0	1	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1106C>A	p.Pro369His	p.P369H	ENST00000428789	8/16	210	182	28	167	166	1	strelka-varscan-mutect	MGAT5B,missense_variant,p.Pro358His,ENST00000569840,NM_001199172.1;MGAT5B,missense_variant,p.Pro358His,ENST00000301618,NM_144677.2;MGAT5B,missense_variant,p.Pro369His,ENST00000428789,NM_198955.1;MGAT5B,non_coding_transcript_exon_variant,,ENST00000563627,;MGAT5B,missense_variant,p.Pro369His,ENST00000565043,;	A	ENST00000428789	Transcript	missense_variant	1209/4053	1106/2406	369/801	P/H	cCc/cAc		1		1	MGAT5B	HGNC	HGNC:24140	protein_coding	YES	CCDS45788.1	ENSP00000391227	Q3V5L5		UPI0000231C88	NM_198955.1	deleterious(0.02)		8/16		Pfam_domain:PF15024,hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	76925013	76925013	C	A	1	0	0	0	0	1	0	0	0	9510	623	22	2		2	MGAT5B	17	76925013	Missense_Mutation	SNP	C	C3N-02089_TP	18896	76925013	6332428	874	29671											
TBC1D16	0	.	GRCh38	chr17	80010340	80010340	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcgggccgcggctccCgcccctcctcggtgacatcc	2	6	12	21	6	0	1	0	1	0	0	5	1	3	1	7	4	0	1	7	4	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.599G>T	p.Arg200Leu	p.R200L	ENST00000310924	3/12	176	135	41	172	172	0	strelka-varscan-mutect	TBC1D16,missense_variant,p.Arg200Leu,ENST00000310924,NM_019020.3;	A	ENST00000310924	Transcript	missense_variant	715/10936	599/2304	200/767	R/L	cGg/cTg		1		-1	TBC1D16	HGNC	HGNC:28356	protein_coding	YES	CCDS11766.1	ENSP00000309794	Q8TBP0		UPI000006DDA6	NM_019020.3	tolerated(0.41)		3/12		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF285,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1239821391	.												A	3	1	90	80010340	80010340	C	A	1	0	0	0	0	1	0	0	0	16005	652	23	1		1	TBC1D16	17	80010340	Missense_Mutation	SNP	C	C3N-02089_TP	3085327	80010340	3247101	875	29672											
CCDC40	0	.	GRCh38	chr17	80040182	80040182	+	Frame_Shift_Del	DEL	G	G	-																															accagaatccagagaaaggaGggtcacctccccagagccat																								novel		C3N-02089_TP	C3N-02089_NB	G	G																c.466delG	p.Val156SerfsTer11	p.V156Sfs*11	ENST00000397545	3/20	120	103	17	128	128	0	sindel-varindel-pindel	CCDC40,frameshift_variant,p.Val156SerfsTer11,ENST00000397545,NM_017950.3;CCDC40,frameshift_variant,p.Val156SerfsTer11,ENST00000374877,NM_001243342.1;CCDC40,frameshift_variant,p.Val156SerfsTer11,ENST00000374876,;CCDC40,frameshift_variant,p.Val156SerfsTer11,ENST00000269318,;CCDC40,frameshift_variant,p.Val126SerfsTer?,ENST00000574099,;TBC1D16,upstream_gene_variant,,ENST00000310924,NM_019020.3;CCDC40,downstream_gene_variant,,ENST00000576033,;CCDC40,downstream_gene_variant,,ENST00000572270,;CCDC40,non_coding_transcript_exon_variant,,ENST00000572083,;CCDC40,non_coding_transcript_exon_variant,,ENST00000576241,;CCDC40,intron_variant,,ENST00000573474,;	-	ENST00000397545	Transcript	frameshift_variant	491/4294	464/3429	155/1142	R/X	aGg/ag		1		1	CCDC40	HGNC	HGNC:26090	protein_coding	YES	CCDS42395.1	ENSP00000380679	Q4G0X9		UPI0000201739	NM_017950.3			3/20																			HIGH		deletion	5	2		1										PASS		.	.												-	7	5	90	80040182	80040182	G	-	1	0	1	0	1	0	0	0	0	2521	1000	35	0		0	CCDC40	17	80040182	Frame_Shift_Del	DEL	G	C3N-02089_TP	29842	80040182	3217259	876	29673											
CCDC40	0	.	GRCh38	chr17	80081876	80081876	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtggctccttgtctccagGaacaaatgatactcacggag	10	10	10	11	1	2	1	1	1	1	0	4	3	3	3	2	3	2	1	2	3	3	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1807G>T	p.Glu603Ter	p.E603*	ENST00000397545	12/20	446	332	114	448	448	0	strelka-varscan-mutect	CCDC40,stop_gained,p.Glu603Ter,ENST00000397545,NM_017950.3;CCDC40,stop_gained,p.Glu603Ter,ENST00000374877,NM_001243342.1;CCDC40,splice_region_variant,,ENST00000574799,;CCDC40,non_coding_transcript_exon_variant,,ENST00000572253,;	T	ENST00000397545	Transcript	stop_gained,splice_region_variant	1834/4294	1807/3429	603/1142	E/*	Gaa/Taa		1		1	CCDC40	HGNC	HGNC:26090	protein_coding	YES	CCDS42395.1	ENSP00000380679	Q4G0X9		UPI0000201739	NM_017950.3			12/20		hmmpanther:PTHR16275																	HIGH	1	SNV	5			1										PASS		rs948532763	.												T	4	4	90	80081876	80081876	G	T	1	0	0	0	0	0	1	0	0	2521	1188	41	2		2	CCDC40	17	80081876	Nonsense_Mutation	SNP	G	C3N-02089_TP	41694	80081876	3175565	877	29674											
RNF213	0	.	GRCh38	chr17	80291636	80291636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcattcacagagacttggGtcatgaccgcgttcttgttg	7	14	11	9	2	4	2	3	1	1	1	4	3	4	2	1	1	0	3	1	1	0	6	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1280G>T	p.Gly427Val	p.G427V	ENST00000582970	8/68	337	267	70	279	276	3	strelka-varscan-mutect	RNF213,missense_variant,p.Gly427Val,ENST00000582970,NM_001256071.2;RNF213,missense_variant,p.Gly476Val,ENST00000508628,;RNF213,missense_variant,p.Gly427Val,ENST00000319921,NM_020954.3;RNF213,non_coding_transcript_exon_variant,,ENST00000559070,;RNF213,non_coding_transcript_exon_variant,,ENST00000573548,;RNF213,upstream_gene_variant,,ENST00000574060,;	T	ENST00000582970	Transcript	missense_variant	1423/21055	1280/15624	427/5207	G/V	gGt/gTt		1		1	RNF213	HGNC	HGNC:14539	protein_coding	YES	CCDS58606.1	ENSP00000464087		A0A0A0MTR7	UPI00043788D6	NM_001256071.2	tolerated(0.06)		8/68																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	80291636	80291636	G	T	1	0	0	0	0	1	0	0	0	13656	1261	44	2		2	RNF213	17	80291636	Missense_Mutation	SNP	G	C3N-02089_TP	209760	80291636	2965805	878	29675											
RFNG	0	.	GRCh38	chr17	82051727	82051727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagggccgcggccagcgCgaggcaggcccggcacagcg	6	0	19	16	6	0	0	0	0	0	0	0	1	0	0	4	6	2	2	4	6	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.40G>T	p.Ala14Ser	p.A14S	ENST00000310496	1/8	27	17	10	13	13	0	strelka-mutect	RFNG,missense_variant,p.Ala14Ser,ENST00000310496,NM_002917.1;GPS1,intron_variant,,ENST00000585084,;GPS1,intron_variant,,ENST00000583961,;GPS1,intron_variant,,ENST00000580716,;GPS1,intron_variant,,ENST00000582327,;GPS1,upstream_gene_variant,,ENST00000392358,NM_212492.1;GPS1,upstream_gene_variant,,ENST00000320548,NM_001321093.1;GPS1,upstream_gene_variant,,ENST00000623761,;GPS1,upstream_gene_variant,,ENST00000578552,NM_001321092.1;GPS1,upstream_gene_variant,,ENST00000306823,NM_004127.4;GPS1,upstream_gene_variant,,ENST00000623691,;GPS1,upstream_gene_variant,,ENST00000624957,;RFNG,upstream_gene_variant,,ENST00000429557,;GPS1,upstream_gene_variant,,ENST00000583641,;RFNG,upstream_gene_variant,,ENST00000578356,;GPS1,upstream_gene_variant,,ENST00000583885,;GPS1,upstream_gene_variant,,ENST00000578168,;GPS1,upstream_gene_variant,,ENST00000581418,;GPS1,upstream_gene_variant,,ENST00000583009,;GPS1,upstream_gene_variant,,ENST00000581578,;GPS1,splice_region_variant,,ENST00000583983,;RFNG,upstream_gene_variant,,ENST00000584838,;GPS1,upstream_gene_variant,,ENST00000584229,;RFNG,upstream_gene_variant,,ENST00000580928,;RFNG,non_coding_transcript_exon_variant,,ENST00000582478,;GPS1,upstream_gene_variant,,ENST00000392357,;RFNG,upstream_gene_variant,,ENST00000583784,;RFNG,upstream_gene_variant,,ENST00000580953,;GPS1,upstream_gene_variant,,ENST00000584460,;RFNG,upstream_gene_variant,,ENST00000580793,;RFNG,upstream_gene_variant,,ENST00000578676,;RFNG,upstream_gene_variant,,ENST00000584515,;GPS1,upstream_gene_variant,,ENST00000580141,;GPS1,upstream_gene_variant,,ENST00000578279,;GPS1,upstream_gene_variant,,ENST00000583486,;GPS1,upstream_gene_variant,,ENST00000580723,;GPS1,upstream_gene_variant,,ENST00000578642,;GPS1,upstream_gene_variant,,ENST00000578392,;GPS1,upstream_gene_variant,,ENST00000580627,;RFNG,upstream_gene_variant,,ENST00000584463,;	A	ENST00000310496	Transcript	missense_variant	48/1828	40/996	14/331	A/S	Gcg/Tcg		1		-1	RFNG	HGNC	HGNC:9974	protein_coding	YES	CCDS32773.1	ENSP00000307971	Q9Y644		UPI00001A6F5D	NM_002917.1	tolerated(0.53)		1/8		hmmpanther:PTHR10811,hmmpanther:PTHR10811:SF1,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	90	82051727	82051727	C	A	1	0	0	0	0	1	0	0	0	13423	768	27	1		1	RFNG	17	82051727	Missense_Mutation	SNP	C	C3N-02089_TP	1760091	82051727	1205714	879	29676											
FOXK2	0	.	GRCh38	chr17	82601389	82601389	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccacaacggtgaccagccgGagcagccggagctgaagcgg	10	2	16	13	4	0	2	0	2	0	0	0	4	0	4	4	4	6	2	4	4	2	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1873G>C	p.Glu625Gln	p.E625Q	ENST00000335255	9/9	182	172	10	150	150	0	strelka-varscan-mutect	FOXK2,missense_variant,p.Glu625Gln,ENST00000335255,NM_004514.3;RP13-638C3.4,downstream_gene_variant,,ENST00000576912,;FOXK2,non_coding_transcript_exon_variant,,ENST00000624186,;FOXK2,non_coding_transcript_exon_variant,,ENST00000529652,;FOXK2,non_coding_transcript_exon_variant,,ENST00000571989,;FOXK2,upstream_gene_variant,,ENST00000574694,;FOXK2,3_prime_UTR_variant,,ENST00000473637,;	C	ENST00000335255	Transcript	missense_variant	2047/5265	1873/1983	625/660	E/Q	Gag/Cag		1		1	FOXK2	HGNC	HGNC:6036	protein_coding	YES	CCDS11813.1	ENSP00000335677	Q01167		UPI00001A8BEE	NM_004514.3	deleterious(0.04)		9/9		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF106																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	82601389	82601389	G	C	1	0	0	0	0	1	0	0	0	5878	1175	41	4		4	FOXK2	17	82601389	Missense_Mutation	SNP	G	C3N-02089_TP	549662	82601389	656052	880	29677											
SMCHD1	0	.	GRCh38	chr18	2729410	2729410	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcaagaattgaaatacctGtaagttattattgttactca	16	14	6	5	0	1	2	1	1	0	1	1	2	1	2	1	0	3	4	1	0	9	7	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.3048+1G>T		p.X1016_splice	ENST00000320876		82	65	17	74	74	0	strelka-varscan-mutect	SMCHD1,splice_donor_variant,,ENST00000320876,NM_015295.2;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,downstream_gene_variant,,ENST00000609587,;SMCHD1,splice_donor_variant,,ENST00000577880,;SMCHD1,splice_donor_variant,,ENST00000584897,;SMCHD1,splice_donor_variant,,ENST00000581631,;SMCHD1,downstream_gene_variant,,ENST00000581383,;	T	ENST00000320876	Transcript	splice_donor_variant	-/8821	3048/6018	1016/2005				1		1	SMCHD1	HGNC	HGNC:29090	protein_coding	YES	CCDS45822.1	ENSP00000326603	A6NHR9		UPI00001D7AAD	NM_015295.2				24/47																		HIGH		SNV	5			1										PASS		.	.												T	5	4	90	2729410	2729410	G	T	1	0	0	0	0	0	0	1	0	15081	1391	48	2		2	SMCHD1	18	2729410	Splice_Site	SNP	G	C3N-02089_TP		2729410	77643875	881	29678											
LPIN2	0	.	GRCh38	chr18	2960808	2960808	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttccttcacagtgacaatCacctgcccagccagctgtcc	9	9	7	16	0	2	1	2	1	0	0	4	1	4	1	5	0	3	2	5	0	1	2			C3N-02089_TP	C3N-02089_NB	C	C																c.33G>C	p.=	p.V11V	ENST00000261596	2/20	562	412	150	483	483	0	strelka-varscan-mutect	LPIN2,synonymous_variant,p.=,ENST00000261596,NM_014646.2;LPIN2,synonymous_variant,p.=,ENST00000584294,;LPIN2,synonymous_variant,p.=,ENST00000584915,;RP11-737O24.2,downstream_gene_variant,,ENST00000584431,;	G	ENST00000261596	Transcript	synonymous_variant	272/6229	33/2691	11/896	V	gtG/gtC	COSM438053	1		-1	LPIN2	HGNC	HGNC:14450	protein_coding	YES	CCDS11829.1	ENSP00000261596	Q92539		UPI000012E865	NM_014646.2			2/20		hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF11,Pfam_domain:PF04571											1						LOW	1	SNV	1		1	1										PASS		.	.												G	2	3	90	2960808	2960808	C	G	1	0	0	0	0	0	0	0	1	8819	813	29	4		4	LPIN2	18	2960808	Silent	SNP	C	C3N-02089_TP	231398	2960808	77412477	882	29679											
EPB41L3	0	.	GRCh38	chr18	5478316	5478316	+	Missense_Mutation	SNP	C	C	A																															cttttaggctttttgacaatCtttaatggagaccgagagag																								rs757891782		C3N-02089_TP	C3N-02089_NB	C	C																c.306G>T	p.Lys102Asn	p.K102N	ENST00000341928	3/23	348	295	53	348	346	2	strelka-varscan-mutect	EPB41L3,missense_variant,p.Lys102Asn,ENST00000341928,NM_012307.3;EPB41L3,missense_variant,p.Lys102Asn,ENST00000342933,;EPB41L3,missense_variant,p.Lys102Asn,ENST00000400111,;EPB41L3,missense_variant,p.Lys102Asn,ENST00000544123,NM_001281533.1;EPB41L3,missense_variant,p.Lys102Asn,ENST00000540638,NM_001281534.1;EPB41L3,missense_variant,p.Lys102Asn,ENST00000581833,;EPB41L3,missense_variant,p.Lys102Asn,ENST00000585142,;EPB41L3,missense_variant,p.Lys102Asn,ENST00000578503,;EPB41L3,missense_variant,p.Lys102Asn,ENST00000580989,;EPB41L3,missense_variant,p.Lys102Asn,ENST00000584651,;EPB41L3,missense_variant,p.Lys102Asn,ENST00000584015,;EPB41L3,missense_variant,p.Lys102Asn,ENST00000580308,;EPB41L3,5_prime_UTR_variant,,ENST00000545076,NM_001281535.1;EPB41L3,intron_variant,,ENST00000584670,;EPB41L3,downstream_gene_variant,,ENST00000582592,;EPB41L3,downstream_gene_variant,,ENST00000582703,;EPB41L3,downstream_gene_variant,,ENST00000580179,;RP11-286N3.1,intron_variant,,ENST00000577527,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581454,;EPB41L3,downstream_gene_variant,,ENST00000578431,;EPB41L3,5_prime_UTR_variant,,ENST00000637651,;EPB41L3,3_prime_UTR_variant,,ENST00000580866,;	A	ENST00000341928	Transcript	missense_variant	647/4706	306/3264	102/1087	K/N	aaG/aaT	rs757891782	1		-1	EPB41L3	HGNC	HGNC:3380	protein_coding	YES	CCDS11838.1	ENSP00000343158	Q9Y2J2		UPI0000129AFA	NM_012307.3	deleterious(0)		3/23		Low_complexity_(Seg):seg,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20																	MODERATE	1	SNV	1			1										PASS		rs757891782	.												A	3	1	90	5478316	5478316	C	A	1	0	0	0	0	1	0	0	0	5001	912	32	2		2	EPB41L3	18	5478316	Missense_Mutation	SNP	C	C3N-02089_TP	2517508	5478316	74894969	883	29680	618	2									
EPB41L3	0	.	GRCh38	chr18	5478317	5478317	+	Missense_Mutation	SNP	T	T	A																															ttttaggctttttgacaatcTttaatggagaccgagagagt																										C3N-02089_TP	C3N-02089_NB	T	T																c.305A>T	p.Lys102Met	p.K102M	ENST00000341928	3/23	347	294	53	350	349	1	strelka-varscan-mutect	EPB41L3,missense_variant,p.Lys102Met,ENST00000341928,NM_012307.3;EPB41L3,missense_variant,p.Lys102Met,ENST00000342933,;EPB41L3,missense_variant,p.Lys102Met,ENST00000400111,;EPB41L3,missense_variant,p.Lys102Met,ENST00000544123,NM_001281533.1;EPB41L3,missense_variant,p.Lys102Met,ENST00000540638,NM_001281534.1;EPB41L3,missense_variant,p.Lys102Met,ENST00000581833,;EPB41L3,missense_variant,p.Lys102Met,ENST00000585142,;EPB41L3,missense_variant,p.Lys102Met,ENST00000578503,;EPB41L3,missense_variant,p.Lys102Met,ENST00000580989,;EPB41L3,missense_variant,p.Lys102Met,ENST00000584651,;EPB41L3,missense_variant,p.Lys102Met,ENST00000584015,;EPB41L3,missense_variant,p.Lys102Met,ENST00000580308,;EPB41L3,5_prime_UTR_variant,,ENST00000545076,NM_001281535.1;EPB41L3,intron_variant,,ENST00000584670,;EPB41L3,downstream_gene_variant,,ENST00000582592,;EPB41L3,downstream_gene_variant,,ENST00000582703,;EPB41L3,downstream_gene_variant,,ENST00000580179,;RP11-286N3.1,intron_variant,,ENST00000577527,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581454,;EPB41L3,downstream_gene_variant,,ENST00000578431,;EPB41L3,5_prime_UTR_variant,,ENST00000637651,;EPB41L3,3_prime_UTR_variant,,ENST00000580866,;	A	ENST00000341928	Transcript	missense_variant	646/4706	305/3264	102/1087	K/M	aAg/aTg	COSM5174244,COSM5174245	1		-1	EPB41L3	HGNC	HGNC:3380	protein_coding	YES	CCDS11838.1	ENSP00000343158	Q9Y2J2		UPI0000129AFA	NM_012307.3	deleterious(0)		3/23		Low_complexity_(Seg):seg,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	90	5478317	5478317	T	A	1	0	0	0	0	1	0	0	0	5001	1609	56	4		4	EPB41L3	18	5478317	Missense_Mutation	SNP	T	C3N-02089_TP	1	5478317	74894968	884	29681	618	2									
MTCL1	0	.	GRCh38	chr18	8783752	8783752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagctgcggctaaagctgGtggaggaggaagccaacatc	12	6	15	8	1	0	1	0	1	0	0	1	4	0	4	1	5	5	3	1	5	5	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.640G>A	p.Val214Met	p.V214M	ENST00000359865	6/17	161	117	44	130	129	1	strelka-varscan-mutect	MTCL1,missense_variant,p.Val214Met,ENST00000359865,NM_015210.3;MTCL1,missense_variant,p.Val214Met,ENST00000400050,;MTCL1,missense_variant,p.Val214Met,ENST00000517570,;MTCL1,missense_variant,p.Val574Met,ENST00000306329,;MTCL1,upstream_gene_variant,,ENST00000521018,;MTCL1,upstream_gene_variant,,ENST00000523811,;MTCL1,missense_variant,p.Val56Met,ENST00000520495,;MTCL1,upstream_gene_variant,,ENST00000517554,;	A	ENST00000359865	Transcript	missense_variant	782/6093	640/4761	214/1586	V/M	Gtg/Atg		1		1	MTCL1	HGNC	HGNC:29121	protein_coding	YES	CCDS11841.1	ENSP00000352927	Q9Y4B5		UPI0000456B5B	NM_015210.3	deleterious(0)		6/17		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF11365,hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF3,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	90	8783752	8783752	G	A	1	0	0	0	0	1	0	0	0	9900	1261	44	3		3	MTCL1	18	8783752	Missense_Mutation	SNP	G	C3N-02089_TP	3305435	8783752	71589533	885	29682											
ANKRD12	0	.	GRCh38	chr18	9257955	9257955	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagatgcctttgtcccagTgtactctgacagcactattc	10	12	7	12	0	1	2	0	1	1	1	3	2	2	2	2	0	4	2	2	0	3	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.4688T>G	p.Val1563Gly	p.V1563G	ENST00000262126	9/13	196	183	13	140	140	0	strelka-varscan-mutect	ANKRD12,missense_variant,p.Val1563Gly,ENST00000262126,NM_015208.4;ANKRD12,missense_variant,p.Val1540Gly,ENST00000400020,NM_001083625.2,NM_001204056.1;ANKRD12,downstream_gene_variant,,ENST00000546007,;RP11-888D10.4,upstream_gene_variant,,ENST00000609701,;RP11-21J18.1,downstream_gene_variant,,ENST00000578850,;ANKRD12,downstream_gene_variant,,ENST00000359158,;	G	ENST00000262126	Transcript	missense_variant	4928/11288	4688/6189	1563/2062	V/G	gTg/gGg		1		1	ANKRD12	HGNC	HGNC:29135	protein_coding	YES	CCDS11843.1	ENSP00000262126	Q6UB98		UPI0000073327	NM_015208.4	deleterious_low_confidence(0)		9/13		hmmpanther:PTHR24149,hmmpanther:PTHR24149:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	9257955	9257955	T	G	1	0	0	0	0	1	0	0	0	741	1696	59	5		5	ANKRD12	18	9257955	Missense_Mutation	SNP	T	C3N-02089_TP	474203	9257955	71115330	886	29683											
PPP4R1	0	.	GRCh38	chr18	9553366	9553366	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttctactattatctgtCaccaaaaactcctgaagttg	13	14	4	10	0	3	1	1	1	2	0	4	1	4	1	2	0	2	1	2	0	7	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2247G>T	p.=	p.V749V	ENST00000400556	16/20	275	243	32	273	273	0	strelka-varscan-mutect	PPP4R1,synonymous_variant,p.=,ENST00000400556,NM_001042388.2;PPP4R1,synonymous_variant,p.=,ENST00000400555,NM_005134.3;PPP4R1,non_coding_transcript_exon_variant,,ENST00000579609,;PPP4R1,non_coding_transcript_exon_variant,,ENST00000584754,;PPP4R1,3_prime_UTR_variant,,ENST00000285124,;PPP4R1,upstream_gene_variant,,ENST00000582594,;PPP4R1,downstream_gene_variant,,ENST00000583438,;PPP4R1,downstream_gene_variant,,ENST00000577667,;PPP4R1,upstream_gene_variant,,ENST00000578010,;PPP4R1,upstream_gene_variant,,ENST00000578329,;	A	ENST00000400556	Transcript	synonymous_variant	2321/3925	2247/2853	749/950	V	gtG/gtT		1		-1	PPP4R1	HGNC	HGNC:9320	protein_coding	YES	CCDS42412.1	ENSP00000383402	Q8TF05		UPI000006D6DE	NM_001042388.2			16/20		hmmpanther:PTHR10648:SF8,hmmpanther:PTHR10648,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	9553366	9553366	C	A	1	0	0	0	0	0	0	0	1	12525	813	29	2		2	PPP4R1	18	9553366	Silent	SNP	C	C3N-02089_TP	295411	9553366	70819919	887	29684											
GNAL	0	.	GRCh38	chr18	11689747	11689747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggcggcgaagggagcccgGcatgcgctcggcccaaagca	8	2	18	13	5	0	0	0	0	0	0	1	2	0	1	2	6	3	3	2	6	2	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.184G>T	p.Ala62Ser	p.A62S	ENST00000334049	1/12	283	227	56	199	199	0	strelka-varscan-mutect	GNAL,missense_variant,p.Ala62Ser,ENST00000334049,NM_182978.3;GNAL,non_coding_transcript_exon_variant,,ENST00000585590,;	T	ENST00000334049	Transcript	missense_variant	792/6535	184/1377	62/458	A/S	Gca/Tca		1		1	GNAL	HGNC	HGNC:4388	protein_coding	YES	CCDS11851.1	ENSP00000334051	P38405		UPI000017DF81	NM_182978.3	tolerated_low_confidence(0.43)		1/12																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	11689747	11689747	G	T	1	0	0	0	0	1	0	0	0	6387	1203	42	2		2	GNAL	18	11689747	Missense_Mutation	SNP	G	C3N-02089_TP	2136381	11689747	68683538	888	29685											
ANKRD30B	0	.	GRCh38	chr18	14851866	14851866	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctgctttacaagacCatgatcaaagtgtcacatca	12	12	7	10	0	4	2	3	1	1	1	4	2	4	2	1	1	2	2	1	1	3	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.3565C>A	p.His1189Asn	p.H1189N	ENST00000358984	36/36	62	50	12	71	71	0	strelka-varscan-mutect	ANKRD30B,missense_variant,p.His1189Asn,ENST00000358984,NM_001145029.1;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000320584,;	A	ENST00000358984	Transcript	missense_variant	3745/4359	3565/4179	1189/1392	H/N	Cat/Aat		1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1	deleterious(0.01)		36/36		Pfam_domain:PF14915,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20																	MODERATE	1	SNV	1			1										PASS		rs1238199613	.												A	3	1	90	14851866	14851866	C	A	1	0	0	0	0	1	0	0	0	762	594	21	2		2	ANKRD30B	18	14851866	Missense_Mutation	SNP	C	C3N-02089_TP	3162119	14851866	65521419	889	29686											
ROCK1	0	.	GRCh38	chr18	20984464	20984464	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcctcaaatgcttgAgtcttcaattcattttgtaa	9	18	6	8	0	5	1	3	1	2	0	5	1	5	1	1	0	2	2	1	0	3	7	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.2376T>G	p.=	p.T792T	ENST00000399799	20/33	221	170	51	188	186	2	strelka-varscan-mutect	ROCK1,synonymous_variant,p.=,ENST00000399799,NM_005406.2;ROCK1,synonymous_variant,p.=,ENST00000635540,;ROCK1,upstream_gene_variant,,ENST00000583556,;	C	ENST00000399799	Transcript	synonymous_variant	3317/9484	2376/4065	792/1354	T	acT/acG		1		-1	ROCK1	HGNC	HGNC:10251	protein_coding	YES	CCDS11870.2	ENSP00000382697	Q13464		UPI000006F0A4	NM_005406.2			20/33		hmmpanther:PTHR22988:SF33,hmmpanther:PTHR22988,PIRSF_domain:PIRSF037568																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	20984464	20984464	A	C	1	0	0	0	0	0	0	0	1	13695	291	11	5		5	ROCK1	18	20984464	Silent	SNP	A	C3N-02089_TP	6132598	20984464	59388821	890	29687											
ESCO1	0	.	GRCh38	chr18	21539956	21539956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggtcttcaggaagaacCattattatcctgccatcagg	10	13	9	9	0	3	1	2	0	1	1	4	2	4	2	3	3	2	0	3	3	4	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2007G>T	p.Met669Ile	p.M669I	ENST00000269214	9/12	204	171	33	147	147	0	strelka-varscan-mutect	ESCO1,start_lost,p.Met1?,ENST00000622333,;ESCO1,missense_variant,p.Met669Ile,ENST00000269214,NM_052911.2;ESCO1,3_prime_UTR_variant,,ENST00000383276,;	A	ENST00000269214	Transcript	missense_variant	2945/4523	2007/2523	669/840	M/I	atG/atT		1		-1	ESCO1	HGNC	HGNC:24645	protein_coding	YES	CCDS32800.1	ENSP00000269214	Q5FWF5	A0A024RC19	UPI00001C1FF4	NM_052911.2	deleterious(0.05)		9/12		hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF26																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	21539956	21539956	C	A	1	0	0	0	0	1	0	0	0	5110	594	21	2		2	ESCO1	18	21539956	Missense_Mutation	SNP	C	C3N-02089_TP	555492	21539956	58833329	891	29688											
CTAGE1	0	.	GRCh38	chr18	22415687	22415687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgtggtggacctgggaCatcccttggagaaaaataat	13	8	12	8	1	0	1	0	0	0	1	1	4	1	3	2	4	1	1	2	4	3	2	rs757466641		C3N-02089_TP	C3N-02089_NB	C	C																c.2125G>A	p.Val709Ile	p.V709I	ENST00000391403	1/1	337	304	33	289	289	0	strelka-varscan-mutect	CTAGE1,missense_variant,p.Val709Ile,ENST00000391403,NM_172241.2;CTAGE1,upstream_gene_variant,,ENST00000525417,;RP11-863N1.4,downstream_gene_variant,,ENST00000603437,;	T	ENST00000391403	Transcript	missense_variant	2229/4313	2125/2238	709/745	V/I	Gtc/Atc	rs757466641	1		-1	CTAGE1	HGNC	HGNC:24346	protein_coding	YES	CCDS45837.1	ENSP00000375220	Q96RT6		UPI00000721F4	NM_172241.2	deleterious(0.02)		1/1		hmmpanther:PTHR23158:SF39,hmmpanther:PTHR23158																	MODERATE	1	SNV				1										PASS		rs757466641	.												T	3	4	90	22415687	22415687	C	T	1	0	0	0	0	1	0	0	0	3796	478	17	3		3	CTAGE1	18	22415687	Missense_Mutation	SNP	C	C3N-02089_TP	875731	22415687	57957598	892	29689											
OSBPL1A	0	.	GRCh38	chr18	24172424	24172424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgttcgatccacagtttaCccacaatgatattatgcaca	13	12	5	11	1	0	1	0	1	0	0	2	2	1	1	2	0	2	3	2	0	4	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2153G>T	p.Gly718Val	p.G718V	ENST00000319481	22/28	200	175	25	212	211	1	strelka-varscan-mutect	OSBPL1A,missense_variant,p.Gly718Val,ENST00000319481,NM_080597.3;OSBPL1A,missense_variant,p.Gly205Val,ENST00000399443,NM_018030.4;OSBPL1A,missense_variant,p.Gly336Val,ENST00000357041,NM_001242508.1;OSBPL1A,missense_variant,p.Gly53Val,ENST00000578013,;RNA5SP452,upstream_gene_variant,,ENST00000363004,;OSBPL1A,3_prime_UTR_variant,,ENST00000578055,;	A	ENST00000319481	Transcript	missense_variant	2360/4195	2153/2853	718/950	G/V	gGt/gTt		1		-1	OSBPL1A	HGNC	HGNC:16398	protein_coding	YES	CCDS11884.1	ENSP00000320291	Q9BXW6	B0YJ56	UPI0000130E95	NM_080597.3	deleterious(0)		22/28		hmmpanther:PTHR10972:SF53,hmmpanther:PTHR10972,Pfam_domain:PF01237,Superfamily_domains:0051579																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	24172424	24172424	C	A	1	0	0	0	0	1	0	0	0	11343	507	18	2		2	OSBPL1A	18	24172424	Missense_Mutation	SNP	C	C3N-02089_TP	1756737	24172424	56200861	893	29690											
CDH2	0	.	GRCh38	chr18	27985089	27985089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtccacatctgtgcagtccCcgttggagtcacactggcaa	8	10	10	13	1	2	0	1	0	1	0	4	1	4	1	3	2	1	3	3	2	1	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2120G>T	p.Gly707Val	p.G707V	ENST00000269141	13/16	302	230	72	290	290	0	strelka-varscan-mutect	CDH2,missense_variant,p.Gly707Val,ENST00000269141,NM_001792.3;CDH2,missense_variant,p.Gly676Val,ENST00000399380,NM_001308176.1;	A	ENST00000269141	Transcript	missense_variant	2544/4332	2120/2721	707/906	G/V	gGg/gTg		1		-1	CDH2	HGNC	HGNC:1759	protein_coding	YES	CCDS11891.1	ENSP00000269141	P19022	A0A024RC42	UPI000013D7FD	NM_001792.3	tolerated(0.14)		13/16		Gene3D:2.60.40.60,Prints_domain:PR01820,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF79,SMART_domains:SM00112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	27985089	27985089	C	A	1	0	0	0	0	1	0	0	0	2808	623	22	2		2	CDH2	18	27985089	Missense_Mutation	SNP	C	C3N-02089_TP	3812665	27985089	52388196	894	29691											
DSG3	0	.	GRCh38	chr18	31475733	31475733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaaggcgcagatgccactGgttctcctgtgggctccgtg	6	10	14	11	2	1	2	0	1	1	1	3	2	2	2	3	3	1	3	3	3	1	1	rs150853711		C3N-02089_TP	C3N-02089_NB	G	G																c.2473G>T	p.Gly825Cys	p.G825C	ENST00000257189	16/16	325	240	85	287	287	0	strelka-varscan-mutect	DSG3,missense_variant,p.Gly825Cys,ENST00000257189,NM_001944.2;	T	ENST00000257189	Transcript	missense_variant	2556/5525	2473/3000	825/999	G/C	Ggt/Tgt	rs150853711	1		1	DSG3	HGNC	HGNC:3050	protein_coding	YES	CCDS11898.1	ENSP00000257189	P32926		UPI000013CF4B	NM_001944.2	deleterious(0)		16/16		Gene3D:4.10.900.10,Prints_domain:PR01818,Prints_domain:PR01819,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF3																	MODERATE	1	SNV	1			1										PASS		rs150853711	.												T	3	4	90	31475733	31475733	G	T	1	0	0	0	0	1	0	0	0	4599	1348	47	2		2	DSG3	18	31475733	Missense_Mutation	SNP	G	C3N-02089_TP	3490644	31475733	48897552	895	29692											
KLHL14	0	.	GRCh38	chr18	32769772	32769772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactggacccgctccaccaGctccggggccgggatgaggg	6	5	16	14	3	0	2	0	2	0	0	2	4	2	4	5	5	1	2	5	5	0	0	rs752039381		C3N-02089_TP	C3N-02089_NB	G	G																c.820C>A	p.Leu274Met	p.L274M	ENST00000359358	2/9	54	47	7	63	63	0	strelka-mutect	KLHL14,missense_variant,p.Leu274Met,ENST00000359358,NM_020805.1;KLHL14,missense_variant,p.Leu274Met,ENST00000358095,;KLHL14,downstream_gene_variant,,ENST00000583263,;AC012123.1,upstream_gene_variant,,ENST00000426194,;	T	ENST00000359358	Transcript	missense_variant	1259/4312	820/1887	274/628	L/M	Ctg/Atg	rs752039381	1		-1	KLHL14	HGNC	HGNC:29266	protein_coding	YES	CCDS32813.1	ENSP00000352314	Q9P2G3		UPI00001C1FF2	NM_020805.1	deleterious(0.01)		2/9		Pfam_domain:PF07707,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF60,SMART_domains:SM00875																	MODERATE	1	SNV	1			1										PASS		rs752039381	.												T	3	4	90	32769772	32769772	G	T	1	0	0	0	0	1	0	0	0	8234	962	34	2		2	KLHL14	18	32769772	Missense_Mutation	SNP	G	C3N-02089_TP	1294039	32769772	47603513	896	29693											
NOL4	0	.	GRCh38	chr18	33853031	33853031	+	Silent	SNP	G	G	T																															ctcttcatgctgagatcagtGggtcctagaaagaaaatcat																								novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1728C>A	p.=	p.P576P	ENST00000261592	11/11	100	70	30	106	106	0	strelka-varscan-mutect	NOL4,synonymous_variant,p.=,ENST00000261592,NM_003787.4;NOL4,synonymous_variant,p.=,ENST00000589544,NM_001198548.1;NOL4,synonymous_variant,p.=,ENST00000538587,NM_001198547.1;NOL4,synonymous_variant,p.=,ENST00000590712,NM_001198546.1;NOL4,synonymous_variant,p.=,ENST00000535384,NM_001198549.1;NOL4,3_prime_UTR_variant,,ENST00000586314,;	T	ENST00000261592	Transcript	synonymous_variant	2026/3957	1728/1917	576/638	P	ccC/ccA		1		-1	NOL4	HGNC	HGNC:7870	protein_coding	YES	CCDS11907.2	ENSP00000261592	O94818		UPI000059D504	NM_003787.4			11/11		hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF17																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	33853031	33853031	G	T	1	0	0	0	0	0	0	0	1	10567	1362	47	2		2	NOL4	18	33853031	Silent	SNP	G	C3N-02089_TP	1083259	33853031	46520254	897	29694	619	2									
NOL4	0	.	GRCh38	chr18	33853033	33853033	+	Missense_Mutation	SNP	G	G	T																															cttcatgctgagatcagtggGtcctagaaagaaaatcatca																								novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1726C>A	p.Pro576Thr	p.P576T	ENST00000261592	11/11	98	70	28	107	106	1	strelka-varscan-mutect	NOL4,missense_variant,p.Pro576Thr,ENST00000261592,NM_003787.4;NOL4,missense_variant,p.Pro474Thr,ENST00000589544,NM_001198548.1;NOL4,missense_variant,p.Pro502Thr,ENST00000538587,NM_001198547.1;NOL4,missense_variant,p.Pro496Thr,ENST00000590712,NM_001198546.1;NOL4,missense_variant,p.Pro291Thr,ENST00000535384,NM_001198549.1;NOL4,splice_region_variant,,ENST00000586314,;	T	ENST00000261592	Transcript	missense_variant,splice_region_variant	2024/3957	1726/1917	576/638	P/T	Ccc/Acc		1		-1	NOL4	HGNC	HGNC:7870	protein_coding	YES	CCDS11907.2	ENSP00000261592	O94818		UPI000059D504	NM_003787.4	deleterious(0)		11/11		hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	33853033	33853033	G	T	1	0	0	0	0	1	0	0	0	10567	1275	44	2		2	NOL4	18	33853033	Missense_Mutation	SNP	G	C3N-02089_TP	2	33853033	46520252	898	29695	619	2									
DTNA	0	.	GRCh38	chr18	34858315	34858315	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggagatccagagacttcgGctagagcatgaacaagcttc	13	7	11	10	1	0	4	0	1	0	3	3	6	1	4	1	2	3	3	1	2	3	3			C3N-02089_TP	C3N-02089_NB	G	G																c.1302G>T	p.=	p.R434R	ENST00000598334	14/20	453	357	96	482	482	0	strelka-varscan-mutect	DTNA,synonymous_variant,p.=,ENST00000283365,NM_032975.3;DTNA,synonymous_variant,p.=,ENST00000399121,NM_001198939.1;DTNA,synonymous_variant,p.=,ENST00000444659,NM_001390.4;DTNA,synonymous_variant,p.=,ENST00000595022,NM_001198940.1;DTNA,synonymous_variant,p.=,ENST00000348997,NM_032978.6,NM_001391.5;DTNA,synonymous_variant,p.=,ENST00000598334,NM_001198938.1;DTNA,synonymous_variant,p.=,ENST00000598142,;DTNA,synonymous_variant,p.=,ENST00000598774,NM_032979.4;DTNA,synonymous_variant,p.=,ENST00000399113,;DTNA,synonymous_variant,p.=,ENST00000269192,NM_001198942.1;DTNA,synonymous_variant,p.=,ENST00000601125,NM_001198943.1;DTNA,synonymous_variant,p.=,ENST00000597599,NM_001198941.1;DTNA,synonymous_variant,p.=,ENST00000591182,NM_032980.3;DTNA,synonymous_variant,p.=,ENST00000597674,NM_032981.4;DTNA,synonymous_variant,p.=,ENST00000556414,NM_001198944.1;DTNA,synonymous_variant,p.=,ENST00000596745,NM_001198945.1;DTNA,synonymous_variant,p.=,ENST00000599844,;DTNA,synonymous_variant,p.=,ENST00000587723,;DTNA,non_coding_transcript_exon_variant,,ENST00000601632,;DTNA,non_coding_transcript_exon_variant,,ENST00000601895,;	T	ENST00000598334	Transcript	synonymous_variant	1628/3201	1302/2175	434/724	R	cgG/cgT	COSM4527688,COSM4527689,COSM4527690,COSM4527691,COSM4527692	1		1	DTNA	HGNC	HGNC:3057	protein_coding	YES	CCDS59312.1	ENSP00000470152	Q9Y4J8		UPI0001E92A2F	NM_001198938.1			14/20		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF209,hmmpanther:PTHR11915,PIRSF_domain:PIRSF038204											1,1,1,1,1						LOW	1	SNV	1		1,1,1,1,1	1										PASS		.	.												T	2	4	90	34858315	34858315	G	T	1	0	0	0	0	0	0	0	1	4611	1190	42	2		2	DTNA	18	34858315	Silent	SNP	G	C3N-02089_TP	1005282	34858315	45514970	899	29696											
PIK3C3	0	.	GRCh38	chr18	42013507	42013507	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaattttgatgatataaaGaatggattggaacctaccaa	18	11	8	4	0	0	3	0	2	0	1	0	6	0	5	2	2	2	0	2	2	9	6			C3N-02089_TP	C3N-02089_NB	G	G																c.1236G>A	p.=	p.K412K	ENST00000262039	11/25	157	120	37	156	156	0	strelka-varscan-mutect	PIK3C3,synonymous_variant,p.=,ENST00000262039,NM_002647.2;PIK3C3,synonymous_variant,p.=,ENST00000398870,NM_001308020.1;	A	ENST00000262039	Transcript	synonymous_variant	1322/9443	1236/2664	412/887	K	aaG/aaA	COSM4855613	1		1	PIK3C3	HGNC	HGNC:8974	protein_coding	YES	CCDS11920.1	ENSP00000262039	Q8NEB9		UPI00000708CE	NM_002647.2			11/25		Pfam_domain:PF00613,PIRSF_domain:PIRSF000587,PROSITE_profiles:PS51545,SMART_domains:SM00145											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	90	42013507	42013507	G	A	1	0	0	0	0	0	0	0	1	12007	933	33	3		3	PIK3C3	18	42013507	Silent	SNP	G	C3N-02089_TP	7155192	42013507	38359778	900	29697											
PIK3C3	0	.	GRCh38	chr18	42049544	42049544	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcagctggatattgcgtGatcacctatatacttggagt	10	13	10	8	1	1	1	1	1	0	0	1	3	1	3	1	2	4	2	1	2	4	6	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2202G>T	p.=	p.V734V	ENST00000262039	21/25	180	138	42	206	205	1	strelka-varscan-mutect	PIK3C3,synonymous_variant,p.=,ENST00000262039,NM_002647.2;PIK3C3,synonymous_variant,p.=,ENST00000398870,NM_001308020.1;PIK3C3,synonymous_variant,p.=,ENST00000589056,;PIK3C3,synonymous_variant,p.=,ENST00000597477,;PIK3C3,synonymous_variant,p.=,ENST00000587402,;RP11-687E1.2,upstream_gene_variant,,ENST00000611384,;PIK3C3,non_coding_transcript_exon_variant,,ENST00000593098,;PIK3C3,non_coding_transcript_exon_variant,,ENST00000588631,;	T	ENST00000262039	Transcript	synonymous_variant	2288/9443	2202/2664	734/887	V	gtG/gtT		1		1	PIK3C3	HGNC	HGNC:8974	protein_coding	YES	CCDS11920.1	ENSP00000262039	Q8NEB9		UPI00000708CE	NM_002647.2			21/25		Gene3D:1.10.1070.11,Pfam_domain:PF00454,PIRSF_domain:PIRSF000587,PROSITE_patterns:PS00916,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,SMART_domains:SM00146,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		rs1409378681	.												T	2	4	90	42049544	42049544	G	T	1	0	0	0	0	0	0	0	1	12007	1277	45	2		2	PIK3C3	18	42049544	Silent	SNP	G	C3N-02089_TP	36037	42049544	38323741	901	29698											
DCC	0	.	GRCh38	chr18	53526673	53526673	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttgggttggctggaaaaGcaagatcccctttgcttcct	7	12	10	12	0	0	1	0	0	0	1	2	2	2	2	4	3	2	4	4	3	3	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.4168G>C	p.Ala1390Pro	p.A1390P	ENST00000442544	28/29	395	327	68	372	372	0	strelka-varscan-mutect	DCC,missense_variant,p.Ala1390Pro,ENST00000442544,NM_005215.3;DCC,missense_variant,p.Ala1367Pro,ENST00000412726,;DCC,missense_variant,p.Ala1023Pro,ENST00000581580,;RP11-671P2.1,intron_variant,,ENST00000582064,;DCC,upstream_gene_variant,,ENST00000577224,;DCC,non_coding_transcript_exon_variant,,ENST00000579702,;	C	ENST00000442544	Transcript	missense_variant	4784/10206	4168/4344	1390/1447	A/P	Gca/Cca		1		1	DCC	HGNC	HGNC:2701	protein_coding	YES	CCDS11952.1	ENSP00000389140	P43146		UPI00001AEDC6	NM_005215.3	tolerated(0.06)		28/29		Pfam_domain:PF06583,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF68																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	53526673	53526673	G	C	1	0	0	0	0	1	0	0	0	4084	971	34	4		4	DCC	18	53526673	Missense_Mutation	SNP	G	C3N-02089_TP	11477129	53526673	26846612	902	29699											
KIAA1468	0	.	GRCh38	chr18	62264068	62264068	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgagcaattggcagtgctGctgcaactttatgactacca	10	11	10	10	1	0	2	0	2	0	0	0	2	0	2	1	1	6	5	1	1	4	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2430G>C	p.=	p.L810L	ENST00000398130	17/29	189	162	27	201	201	0	strelka-varscan-mutect	KIAA1468,synonymous_variant,p.=,ENST00000398130,NM_020854.3;KIAA1468,synonymous_variant,p.=,ENST00000256858,;KIAA1468,synonymous_variant,p.=,ENST00000587725,;KIAA1468,synonymous_variant,p.=,ENST00000588446,;KIAA1468,upstream_gene_variant,,ENST00000586920,;	C	ENST00000398130	Transcript	synonymous_variant	2662/6178	2430/3651	810/1216	L	ctG/ctC		1		1	KIAA1468	HGNC	HGNC:29289	protein_coding	YES	CCDS11979.2	ENSP00000381198	Q9P260		UPI0000DA5AF7	NM_020854.3			17/29		Low_complexity_(Seg):seg,hmmpanther:PTHR32059,hmmpanther:PTHR32059:SF0																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	90	62264068	62264068	G	C	1	0	0	0	0	0	0	0	1	8117	1306	46	4		4	KIAA1468	18	62264068	Silent	SNP	G	C3N-02089_TP	8737395	62264068	18109217	903	29700											
BCL2	0	.	GRCh38	chr18	63128632	63128632	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatgttgacttcacttgTggcccagataggcacccagg	9	9	12	11	0	1	2	1	1	0	1	1	2	1	2	2	4	0	3	2	4	1	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.713A>T	p.His238Leu	p.H238L	ENST00000398117	2/2	145	127	18	133	133	0	strelka-varscan-mutect	BCL2,missense_variant,p.His238Leu,ENST00000398117,NM_000633.2;BCL2,missense_variant,p.His238Leu,ENST00000333681,;BCL2,non_coding_transcript_exon_variant,,ENST00000590515,;	A	ENST00000398117	Transcript	missense_variant	2175/7461	713/720	238/239	H/L	cAc/cTc		1		-1	BCL2	HGNC	HGNC:990	protein_coding	YES	CCDS11981.1	ENSP00000381185	P10415	A0A024R2B3	UPI000000D90E	NM_000633.2	deleterious(0.03)		2/2		hmmpanther:PTHR11256,hmmpanther:PTHR11256:SF11,TIGRFAM_domain:TIGR00865																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	63128632	63128632	T	A	1	0	0	0	0	1	0	0	0	1512	1696	59	4		4	BCL2	18	63128632	Missense_Mutation	SNP	T	C3N-02089_TP	864564	63128632	17244653	904	29701											
DOK6	0	.	GRCh38	chr18	69677853	69677853	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcagcgggaacagaatGgtaggtgtgagattgccttc	10	9	16	6	1	0	2	0	1	0	2	1	5	0	3	1	3	4	2	1	3	3	3			C3N-02089_TP	C3N-02089_NB	G	G																c.409G>T	p.Glu137Ter	p.E137*	ENST00000382713	4/8	153	96	57	125	124	1	strelka-varscan-mutect	DOK6,stop_gained,p.Glu137Ter,ENST00000382713,NM_152721.5;DOK6,stop_gained,p.Glu41Ter,ENST00000582992,;DOK6,splice_region_variant,,ENST00000584435,;DOK6,splice_region_variant,,ENST00000582172,;	T	ENST00000382713	Transcript	stop_gained,splice_region_variant	599/8890	409/996	137/331	E/*	Gag/Tag	COSM310693	1		1	DOK6	HGNC	HGNC:28301	protein_coding	YES	CCDS32841.1	ENSP00000372160	Q6PKX4		UPI000035EC7C	NM_152721.5			4/8		Gene3D:2.30.29.30,Pfam_domain:PF02174,PROSITE_profiles:PS51064,hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF43,SMART_domains:SM00310,SMART_domains:SM01244,Superfamily_domains:SSF50729											1						HIGH	1	SNV	1		1	1										PASS		.	.												T	4	4	90	69677853	69677853	G	T	1	0	0	0	0	0	1	0	0	4516	1362	47	2		2	DOK6	18	69677853	Nonsense_Mutation	SNP	G	C3N-02089_TP	6549221	69677853	10695432	905	29702											
SOCS6	0	.	GRCh38	chr18	70326017	70326017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaacagccagatgtggaagGacatacgtccatagttgatc	13	9	11	8	1	0	3	0	2	0	1	2	5	1	5	2	2	3	1	2	2	4	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1349G>T	p.Gly450Val	p.G450V	ENST00000397942	2/2	299	280	19	225	225	0	strelka-varscan-mutect	SOCS6,missense_variant,p.Gly450Val,ENST00000397942,NM_004232.3;SOCS6,missense_variant,p.Gly450Val,ENST00000582322,;SOCS6,downstream_gene_variant,,ENST00000578377,;	T	ENST00000397942	Transcript	missense_variant	1665/5848	1349/1608	450/535	G/V	gGa/gTa		1		1	SOCS6	HGNC	HGNC:16833	protein_coding	YES	CCDS11998.1	ENSP00000381034	O14544	A0A024R379	UPI0000072C28	NM_004232.3	deleterious(0)		2/2		PROSITE_profiles:PS50001,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF83,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	70326017	70326017	G	T	1	0	0	0	0	1	0	0	0	15239	1174	41	2		2	SOCS6	18	70326017	Missense_Mutation	SNP	G	C3N-02089_TP	648164	70326017	10047268	906	29703											
FBXO15	0	.	GRCh38	chr18	74130415	74130415	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttttggaacacactgcgtaCctgagggcctctttggtctt	6	14	10	11	1	2	1	0	1	2	0	2	2	2	2	2	3	3	1	2	3	2	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.575+1G>T		p.X192_splice	ENST00000419743		152	142	10	139	139	0	strelka-varscan-mutect	FBXO15,splice_donor_variant,,ENST00000419743,NM_152676.2,NM_001142958.1;FBXO15,upstream_gene_variant,,ENST00000579517,;FBXO15,downstream_gene_variant,,ENST00000582526,;FBXO15,splice_donor_variant,,ENST00000583443,;FBXO15,splice_donor_variant,,ENST00000581214,;FBXO15,splice_donor_variant,,ENST00000585174,;FBXO15,intron_variant,,ENST00000578399,;FBXO15,downstream_gene_variant,,ENST00000580552,;	A	ENST00000419743	Transcript	splice_donor_variant	-/1708	575/1533	192/510				1		-1	FBXO15	HGNC	HGNC:13617	protein_coding	YES	CCDS45884.1	ENSP00000393154	Q8NCQ5		UPI00003CF23D	NM_152676.2,NM_001142958.1				4/9																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	90	74130415	74130415	C	A	1	0	0	0	0	0	0	1	0	5591	521	18	2		2	FBXO15	18	74130415	Splice_Site	SNP	C	C3N-02089_TP	3804398	74130415	6242870	907	29704											
ZNF516	0	.	GRCh38	chr18	76442431	76442431	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgactcctcccgcagcgtCgcgtagctgcacagcctgca	7	6	11	17	5	0	0	0	0	0	0	3	1	2	0	3	0	6	5	3	0	1	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.624G>T	p.=	p.A208A	ENST00000443185	3/7	241	203	38	168	166	2	strelka-varscan-mutect	ZNF516,synonymous_variant,p.=,ENST00000443185,NM_014643.3;ZNF516,downstream_gene_variant,,ENST00000532857,;	A	ENST00000443185	Transcript	synonymous_variant	942/8118	624/3492	208/1163	A	gcG/gcT		1		-1	ZNF516	HGNC	HGNC:28990	protein_coding	YES	CCDS74234.1	ENSP00000394757	Q92618		UPI00001394A1	NM_014643.3			3/7		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF3,SMART_domains:SM00355																	LOW	1	SNV	1			1										PASS		rs1192783535	.												A	2	1	90	76442431	76442431	C	A	1	0	0	0	0	0	0	0	1	18532	871	31	1		1	ZNF516	18	76442431	Silent	SNP	C	C3N-02089_TP	2312016	76442431	3930854	908	29705											
SALL3	0	.	GRCh38	chr18	78995286	78995286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtgatgggcccgggcctgGcgcccatgctggccccccca	4	5	14	18	2	0	1	0	1	0	0	0	1	0	1	6	4	1	1	6	4	0	0			C3N-02089_TP	C3N-02089_NB	G	G																c.3295G>A	p.Ala1099Thr	p.A1099T	ENST00000537592	2/3	178	133	45	187	187	0	strelka-varscan-mutect	SALL3,missense_variant,p.Ala1099Thr,ENST00000537592,NM_171999.3;SALL3,missense_variant,p.Ala894Thr,ENST00000536229,;SALL3,missense_variant,p.Ala1027Thr,ENST00000575389,;SALL3,missense_variant,p.Ala759Thr,ENST00000616649,;SALL3,missense_variant,p.Ala92Thr,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;	A	ENST00000537592	Transcript	missense_variant	3295/6555	3295/3903	1099/1300	A/T	Gcg/Acg	COSM4073436	1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3	tolerated(1)		2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46											1						MODERATE	1	SNV	5		1	1										PASS		rs1415842432	.												A	3	1	90	78995286	78995286	G	A	1	0	0	0	0	1	0	0	0	14071	1203	42	3		3	SALL3	18	78995286	Missense_Mutation	SNP	G	C3N-02089_TP	2552855	78995286	1377999	909	29706											
GZMM	0	.	GRCh38	chr19	548571	548571	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggctggtgctggggcTccacaccctggacagccccg	5	6	15	15	1	0	1	0	1	0	0	1	2	1	2	4	5	2	4	4	5	0	0	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.242T>C	p.Leu81Pro	p.L81P	ENST00000264553	3/5	159	144	15	161	161	0	strelka-varscan-mutect	GZMM,missense_variant,p.Leu42Pro,ENST00000592501,NM_001258351.1;GZMM,missense_variant,p.Leu81Pro,ENST00000264553,NM_005317.3;	C	ENST00000264553	Transcript	missense_variant	279/940	242/774	81/257	L/P	cTc/cCc		1		1	GZMM	HGNC	HGNC:4712	protein_coding	YES	CCDS12031.1	ENSP00000264553	P51124		UPI000013D531	NM_005317.3	deleterious(0.01)		3/5		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF132,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	548571	548571	T	C	1	0	0	0	0	1	0	0	0	6801	1551	54	5		5	GZMM	19	548571	Missense_Mutation	SNP	T	C3N-02089_TP		548571	58069045	910	29707											
MED16	0	.	GRCh38	chr19	868891	868891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccttgcattcctccgtggGgcaagcgccaaggtgcagcc	6	7	14	14	2	0	0	0	0	0	0	2	0	2	0	5	4	4	3	5	4	2	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2371C>A	p.Pro791Thr	p.P791T	ENST00000325464	14/16	116	89	27	96	96	0	strelka-varscan-mutect	MED16,missense_variant,p.Pro791Thr,ENST00000395808,;MED16,missense_variant,p.Pro810Thr,ENST00000312090,;MED16,missense_variant,p.Pro791Thr,ENST00000325464,NM_005481.2;MED16,missense_variant,p.Pro791Thr,ENST00000589119,;MED16,missense_variant,p.Pro168Thr,ENST00000269814,;MED16,missense_variant,p.Pro30Thr,ENST00000621073,;MED16,synonymous_variant,p.=,ENST00000607471,;MED16,intron_variant,,ENST00000616387,;MED16,intron_variant,,ENST00000617672,;MED16,downstream_gene_variant,,ENST00000592943,;MED16,downstream_gene_variant,,ENST00000586017,;MED16,downstream_gene_variant,,ENST00000606828,;MED16,3_prime_UTR_variant,,ENST00000606248,;	T	ENST00000325464	Transcript	missense_variant	2522/2922	2371/2634	791/877	P/T	Ccc/Acc		1		-1	MED16	HGNC	HGNC:17556	protein_coding	YES	CCDS12047.1	ENSP00000325612	Q9Y2X0		UPI0000141671	NM_005481.2	deleterious(0.01)		14/16		Pfam_domain:PF11635,hmmpanther:PTHR13224,hmmpanther:PTHR13224:SF6																	MODERATE	1	SNV	5			1										PASS		rs1260046676	.												T	3	4	90	868891	868891	G	T	1	0	0	0	0	1	0	0	0	9373	1246	43	2		2	MED16	19	868891	Missense_Mutation	SNP	G	C3N-02089_TP	320320	868891	57748725	911	29708											
ABCA7	0	.	GRCh38	chr19	1049383	1049383	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagcctggacttctaccAgggccacatcaccgccttcc	7	8	8	18	1	3	0	2	0	1	0	4	1	4	1	6	2	2	1	6	2	1	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.2498A>C	p.Gln833Pro	p.Q833P	ENST00000263094	18/47	100	76	24	98	98	0	strelka-varscan-mutect	ABCA7,missense_variant,p.Gln833Pro,ENST00000263094,NM_019112.3;ABCA7,missense_variant,p.Gln833Pro,ENST00000433129,;ABCA7,missense_variant,p.Gln695Pro,ENST00000435683,;ABCA7,downstream_gene_variant,,ENST00000533574,;ABCA7,upstream_gene_variant,,ENST00000530092,;	C	ENST00000263094	Transcript	missense_variant	2729/6816	2498/6441	833/2146	Q/P	cAg/cCg		1		1	ABCA7	HGNC	HGNC:37	protein_coding	YES	CCDS12055.1	ENSP00000263094	Q8IZY2		UPI000013D3A4	NM_019112.3	deleterious(0)		18/47		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	90	1049383	1049383	A	C	1	0	0	0	0	1	0	0	0	41	188	7	5		5	ABCA7	19	1049383	Missense_Mutation	SNP	A	C3N-02089_TP	180492	1049383	57568233	912	29709											
STK11	0	.	GRCh38	chr19	1221271	1221271	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacatctacaagttgtttGagaacatcgggaaggggagc	14	8	12	7	1	1	1	0	1	1	1	2	4	1	3	0	3	4	2	0	3	5	3			C3N-02089_TP	C3N-02089_NB	G	G																c.793G>T	p.Glu265Ter	p.E265*	ENST00000326873	6/10	158	114	44	138	138	0	strelka-varscan-mutect	STK11,stop_gained,p.Glu265Ter,ENST00000586243,;STK11,stop_gained,p.Glu265Ter,ENST00000326873,NM_000455.4;STK11,upstream_gene_variant,,ENST00000585465,;STK11,downstream_gene_variant,,ENST00000585748,;STK11,downstream_gene_variant,,ENST00000585851,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000591133,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;STK11,downstream_gene_variant,,ENST00000593219,;	T	ENST00000326873	Transcript	stop_gained	1243/2611	793/1302	265/433	E/*	Gag/Tag	CM102315,COSM371077	1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4			6/10		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,SMART_domains:SM00220,Superfamily_domains:SSF56112											0,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												T	4	4	90	1221271	1221271	G	T	1	0	0	0	0	0	1	0	0	15664	1291	45	2		2	STK11	19	1221271	Nonsense_Mutation	SNP	G	C3N-02089_TP	171888	1221271	57396345	913	29710											
APC2	0	.	GRCh38	chr19	1469844	1469844	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggacgccccggccgggccCccgccgcgcaagaccagcga	7	0	15	19	7	0	1	0	0	0	1	0	4	0	2	7	3	1	1	7	3	1	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.6543C>A	p.=	p.P2181P	ENST00000535453	14/14	214	144	70	164	164	0	strelka-varscan-mutect	APC2,synonymous_variant,p.=,ENST00000535453,;APC2,synonymous_variant,p.=,ENST00000233607,NM_005883.2;C19orf25,intron_variant,,ENST00000588427,;C19orf25,downstream_gene_variant,,ENST00000436106,;APC2,downstream_gene_variant,,ENST00000238483,;APC2,downstream_gene_variant,,ENST00000590469,;C19orf25,downstream_gene_variant,,ENST00000588871,;C19orf25,downstream_gene_variant,,ENST00000585675,NM_152482.2;C19orf25,downstream_gene_variant,,ENST00000588849,;C19orf25,downstream_gene_variant,,ENST00000427685,;C19orf25,downstream_gene_variant,,ENST00000592872,;C19orf25,downstream_gene_variant,,ENST00000586564,;C19orf25,downstream_gene_variant,,ENST00000590621,;APC2,downstream_gene_variant,,ENST00000593146,;C19orf25,downstream_gene_variant,,ENST00000592486,;	A	ENST00000535453	Transcript	synonymous_variant	8256/11656	6543/6912	2181/2303	P	ccC/ccA		1		1	APC2	HGNC	HGNC:24036	protein_coding	YES	CCDS12068.1	ENSP00000442954	O95996		UPI0000073D85				14/14		hmmpanther:PTHR12607:SF3,hmmpanther:PTHR12607																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	1469844	1469844	C	A	1	0	0	0	0	0	0	0	1	884	610	22	2		2	APC2	19	1469844	Silent	SNP	C	C3N-02089_TP	248573	1469844	57147772	914	29711											
TCF3	0	.	GRCh38	chr19	1615697	1615697	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttggcacctggtccgggcCcggggggccttcagctcctt	2	9	16	14	2	1	0	1	0	0	0	3	0	3	0	5	7	1	3	5	7	0	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1575G>T	p.=	p.R525R	ENST00000262965	17/19	106	82	24	117	117	0	strelka-varscan-mutect	TCF3,synonymous_variant,p.=,ENST00000262965,NM_003200.3;TCF3,synonymous_variant,p.=,ENST00000611869,;TCF3,synonymous_variant,p.=,ENST00000344749,;TCF3,synonymous_variant,p.=,ENST00000453954,;TCF3,synonymous_variant,p.=,ENST00000395423,;TCF3,synonymous_variant,p.=,ENST00000593064,;TCF3,synonymous_variant,p.=,ENST00000588136,NM_001136139.2;TCF3,synonymous_variant,p.=,ENST00000592628,;TCF3,synonymous_variant,p.=,ENST00000590684,;TCF3,synonymous_variant,p.=,ENST00000585731,;TCF3,synonymous_variant,p.=,ENST00000590436,;TCF3,synonymous_variant,p.=,ENST00000587425,;TCF3,downstream_gene_variant,,ENST00000586410,;RNU6-1223P,downstream_gene_variant,,ENST00000517124,;TCF3,synonymous_variant,p.=,ENST00000585855,;TCF3,synonymous_variant,p.=,ENST00000592395,;TCF3,synonymous_variant,p.=,ENST00000586164,;TCF3,non_coding_transcript_exon_variant,,ENST00000610756,;TCF3,downstream_gene_variant,,ENST00000590605,;	A	ENST00000262965	Transcript	synonymous_variant	1644/4451	1575/1965	525/654	R	cgG/cgT		1		-1	TCF3	HGNC	HGNC:11633	protein_coding	YES	CCDS12074.1	ENSP00000262965	P15923		UPI0000136C80	NM_003200.3			17/19		hmmpanther:PTHR11793:SF7,hmmpanther:PTHR11793																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	1615697	1615697	C	A	1	0	0	0	0	0	0	0	1	16101	610	22	2		2	TCF3	19	1615697	Silent	SNP	C	C3N-02089_TP	145853	1615697	57001919	915	29712											
MKNK2	0	.	GRCh38	chr19	2039852	2039852	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaggtctttggcacagcTgttcctgggaaacggggtgg	6	10	17	8	2	1	1	0	1	1	0	2	2	2	2	1	6	2	3	1	6	1	2	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1159A>G	p.Ser387Gly	p.S387G	ENST00000250896	14/14	90	60	30	67	67	0	strelka-mutect	MKNK2,missense_variant,p.Ser387Gly,ENST00000250896,NM_199054.2;MKNK2,missense_variant,p.Ser387Gly,ENST00000591601,;MKNK2,3_prime_UTR_variant,,ENST00000588014,;MKNK2,intron_variant,,ENST00000309340,NM_017572.3;MKNK2,intron_variant,,ENST00000591142,;MKNK2,downstream_gene_variant,,ENST00000591588,;BTBD2,upstream_gene_variant,,ENST00000590646,;BTBD2,upstream_gene_variant,,ENST00000587742,;BTBD2,upstream_gene_variant,,ENST00000588395,;MKNK2,3_prime_UTR_variant,,ENST00000586828,;MKNK2,3_prime_UTR_variant,,ENST00000589441,;MKNK2,non_coding_transcript_exon_variant,,ENST00000587416,;MKNK2,downstream_gene_variant,,ENST00000586620,;MKNK2,downstream_gene_variant,,ENST00000585667,;	C	ENST00000250896	Transcript	missense_variant	1404/3774	1159/1398	387/465	S/G	Agc/Ggc		1		-1	MKNK2	HGNC	HGNC:7111	protein_coding	YES	CCDS12080.1	ENSP00000250896	Q9HBH9		UPI000006E9B4	NM_199054.2	tolerated(0.1)		14/14		hmmpanther:PTHR24349:SF158,hmmpanther:PTHR24349,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	90	2039852	2039852	T	C	1	0	0	0	0	1	0	0	0	9572	1594	55	5		5	MKNK2	19	2039852	Missense_Mutation	SNP	T	C3N-02089_TP	424155	2039852	56577764	916	29713											
THOP1	0	.	GRCh38	chr19	2811703	2811703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggacatgttccacacgcGcttcaagcaggagggtgtcc	9	8	12	12	2	1	0	1	0	0	0	3	2	3	2	2	3	1	3	2	3	1	2	rs372729243		C3N-02089_TP	C3N-02089_NB	G	G																c.1877G>C	p.Arg626Pro	p.R626P	ENST00000307741	12/13	96	72	24	80	80	0	strelka-varscan-mutect	THOP1,missense_variant,p.Arg626Pro,ENST00000307741,NM_003249.3;THOP1,missense_variant,p.Arg137Pro,ENST00000395212,;THOP1,missense_variant,p.Arg505Pro,ENST00000586677,;THOP1,missense_variant,p.Arg197Pro,ENST00000590970,;THOP1,missense_variant,p.Arg170Pro,ENST00000587401,;THOP1,missense_variant,p.Arg137Pro,ENST00000587468,;THOP1,intron_variant,,ENST00000591363,;THOP1,downstream_gene_variant,,ENST00000591149,;THOP1,downstream_gene_variant,,ENST00000592639,;THOP1,non_coding_transcript_exon_variant,,ENST00000589087,;THOP1,downstream_gene_variant,,ENST00000590533,;	C	ENST00000307741	Transcript	missense_variant	2080/4804	1877/2070	626/689	R/P	cGc/cCc	rs372729243	1		1	THOP1	HGNC	HGNC:11793	protein_coding	YES	CCDS12095.1	ENSP00000304467	P52888		UPI0000000C3E	NM_003249.3	deleterious(0.02)		12/13		Gene3D:2o36A02,Pfam_domain:PF01432,hmmpanther:PTHR11804,hmmpanther:PTHR11804:SF50,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		rs372729243	.												C	3	2	90	2811703	2811703	G	C	1	0	0	0	0	1	0	0	0	16305	1087	38	4		4	THOP1	19	2811703	Missense_Mutation	SNP	G	C3N-02089_TP	771851	2811703	55805913	917	29714											
NMRK2	0	.	GRCh38	chr19	3936610	3936610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaccacgctgaccaacaGcctgctcagagccctgccca	11	4	8	18	1	1	3	1	1	0	2	1	3	1	3	5	0	5	2	5	0	2	0			C3N-02089_TP	C3N-02089_NB	G	G																c.62G>T	p.Ser21Ile	p.S21I	ENST00000616156	3/8	133	116	17	114	114	0	strelka-varscan-mutect	NMRK2,missense_variant,p.Ser21Ile,ENST00000616156,NM_001289117.1;NMRK2,missense_variant,p.Ser21Ile,ENST00000168977,NM_170678.2;NMRK2,missense_variant,p.Ser21Ile,ENST00000593949,;NMRK2,missense_variant,p.Ser12Ile,ENST00000599576,;NMRK2,upstream_gene_variant,,ENST00000597889,;	T	ENST00000616156	Transcript	missense_variant	352/1139	62/708	21/235	S/I	aGc/aTc	COSM4619754	1		1	NMRK2	HGNC	HGNC:17871	protein_coding	YES	CCDS74259.1	ENSP00000480091	Q9NPI5		UPI000189A7D7	NM_001289117.1	deleterious(0.01)		3/8		Gene3D:3.40.50.300,Pfam_domain:PF13238,hmmpanther:PTHR23404,hmmpanther:PTHR23404:SF7,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	90	3936610	3936610	G	T	1	0	0	0	0	1	0	0	0	10542	971	34	2		2	NMRK2	19	3936610	Missense_Mutation	SNP	G	C3N-02089_TP	1124907	3936610	54681006	918	29715											
PTPRS	0	.	GRCh38	chr19	5223274	5223274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctcgggggtctgctgcaCcgacagggttgggcggccca	4	6	17	14	3	1	0	0	0	1	0	2	1	1	0	3	5	2	3	3	5	0	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2518G>T	p.Val840Leu	p.V840L	ENST00000587303	17/37	16	12	4	27	27	0	strelka-mutect	PTPRS,missense_variant,p.Val840Leu,ENST00000587303,NM_002850.3;PTPRS,missense_variant,p.Val818Leu,ENST00000588012,NM_130854.2;PTPRS,intron_variant,,ENST00000262963,;PTPRS,intron_variant,,ENST00000592099,NM_130853.2;PTPRS,intron_variant,,ENST00000353284,NM_130855.2;PTPRS,intron_variant,,ENST00000588552,;PTPRS,upstream_gene_variant,,ENST00000589851,;	A	ENST00000587303	Transcript	missense_variant	2618/6353	2518/5847	840/1948	V/L	Gtg/Ttg		1		-1	PTPRS	HGNC	HGNC:9681	protein_coding	YES	CCDS45930.1	ENSP00000467537	Q13332		UPI000059D63E	NM_002850.3	tolerated(0.1)		17/37		PROSITE_profiles:PS50853,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	5223274	5223274	C	A	1	0	0	0	0	1	0	0	0	12966	507	18	2		2	PTPRS	19	5223274	Missense_Mutation	SNP	C	C3N-02089_TP	1286664	5223274	53394342	919	29716											
TUBB4A	0	.	GRCh38	chr19	6495763	6495763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcgcaggtcggcgttcaGctggcccgggaagcgcaggc	5	6	17	13	5	1	0	1	0	0	0	2	1	1	1	1	5	3	4	1	5	1	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.736C>A	p.Leu246Met	p.L246M	ENST00000264071	4/4	595	430	165	619	618	1	strelka-varscan-mutect	TUBB4A,missense_variant,p.Leu246Met,ENST00000264071,NM_001289131.1,NM_006087.3,NM_001289129.1,NM_001289130.1;TUBB4A,missense_variant,p.Leu142Met,ENST00000594276,;TUBB4A,downstream_gene_variant,,ENST00000597686,NM_001289127.1;TUBB4A,downstream_gene_variant,,ENST00000601152,;TUBB4A,downstream_gene_variant,,ENST00000594075,;TUBB4A,downstream_gene_variant,,ENST00000598006,;TUBB4A,downstream_gene_variant,,ENST00000598635,NM_001289123.1;TUBB4A,downstream_gene_variant,,ENST00000596926,;TUBB4A,downstream_gene_variant,,ENST00000596291,;TUBB4A,downstream_gene_variant,,ENST00000601640,;TUBB4A,downstream_gene_variant,,ENST00000600216,;CTD-2396E7.10,downstream_gene_variant,,ENST00000596027,;CTD-2396E7.9,downstream_gene_variant,,ENST00000599292,;TUBB4A,downstream_gene_variant,,ENST00000595324,;TUBB4A,downstream_gene_variant,,ENST00000594290,;	T	ENST00000264071	Transcript	missense_variant	1108/2552	736/1335	246/444	L/M	Ctg/Atg		1		-1	TUBB4A	HGNC	HGNC:20774	protein_coding	YES	CCDS12168.1	ENSP00000264071	P04350		UPI000005FC27	NM_001289131.1,NM_006087.3,NM_001289129.1,NM_001289130.1	deleterious_low_confidence(0)		4/4		Gene3D:3.40.50.1440,Prints_domain:PR01163,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF121,SMART_domains:SM00865,Superfamily_domains:SSF55307																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	6495763	6495763	G	T	1	0	0	0	0	1	0	0	0	17268	962	34	2		2	TUBB4A	19	6495763	Missense_Mutation	SNP	G	C3N-02089_TP	1272489	6495763	52121853	920	29717											
CLEC4G	0	.	GRCh38	chr19	7730051	7730051	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccaacgatcaccaggtGcgcgctggcatctgcgcagt	7	6	12	16	4	2	0	1	0	1	0	2	1	2	0	3	2	3	3	3	2	1	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.595C>G	p.His199Asp	p.H199D	ENST00000328853	7/9	140	105	35	153	153	0	strelka-varscan-mutect	CLEC4G,missense_variant,p.His199Asp,ENST00000328853,NM_198492.3,NM_001244856.1;CLEC4G,downstream_gene_variant,,ENST00000599020,;CLEC4G,downstream_gene_variant,,ENST00000598081,;	C	ENST00000328853	Transcript	missense_variant	664/1360	595/882	199/293	H/D	Cac/Gac		1		-1	CLEC4G	HGNC	HGNC:24591	protein_coding	YES	CCDS12185.1	ENSP00000327599	Q6UXB4	Q08G24	UPI000004C65D	NM_198492.3,NM_001244856.1	deleterious(0)		7/9		Low_complexity_(Seg):seg,PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF245,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		rs1162013324	.												C	3	2	90	7730051	7730051	G	C	1	0	0	0	0	1	0	0	0	3285	1319	46	4		4	CLEC4G	19	7730051	Missense_Mutation	SNP	G	C3N-02089_TP	1234288	7730051	50887565	921	29718											
MUC16	0	.	GRCh38	chr19	8862903	8862903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaggcagaagcggaatGtgtcatgtagttgactgcct	10	10	13	8	1	1	3	1	2	0	1	1	4	1	4	2	2	2	3	2	2	3	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.42737C>A	p.Thr14246Lys	p.T14246K	ENST00000397910	77/84	218	169	49	254	253	1	strelka-varscan-mutect	MUC16,missense_variant,p.Thr14246Lys,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Thr1069Lys,ENST00000599436,;MUC16,downstream_gene_variant,,ENST00000596956,;MUC16,missense_variant,p.Thr1064Lys,ENST00000601404,;MUC16,3_prime_UTR_variant,,ENST00000596768,;	T	ENST00000397910	Transcript	missense_variant	42941/43816	42737/43524	14246/14507	T/K	aCa/aAa		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			77/84		PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Gene3D:1ivzA00,Pfam_domain:PF01390,Superfamily_domains:0047452																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	8862903	8862903	G	T	1	0	0	0	0	1	0	0	0	9972	1377	48	2		2	MUC16	19	8862903	Missense_Mutation	SNP	G	C3N-02089_TP	1132852	8862903	49754713	922	29719											
MUC16	0	.	GRCh38	chr19	8951242	8951242	+	Frame_Shift_Del	DEL	G	G	-																															tgttgaggtgtccaaggtgaGggtaccctctgatgtagccc																										C3N-02089_TP	C3N-02089_NB	G	G																c.25528delC	p.Leu8510SerfsTer27	p.L8510Sfs*27	ENST00000397910	3/84	163	120	43	200	200	0	sindel-varindel-pindel	MUC16,frameshift_variant,p.Leu8510SerfsTer27,ENST00000397910,NM_024690.2;	-	ENST00000397910	Transcript	frameshift_variant	25732/43816	25528/43524	8510/14507	L/X	Ctc/tc	COSM229324,COSM229325,COSM229326	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84		Low_complexity_(Seg):seg											1,1,1						HIGH	1	deletion	5		1,1,1	1										PASS		.	.												-	7	5	90	8951242	8951242	G	-	1	0	1	0	1	0	0	0	0	9972	1000	35	0		0	MUC16	19	8951242	Frame_Shift_Del	DEL	G	C3N-02089_TP	88339	8951242	49666374	923	29720											
MUC16	0	.	GRCh38	chr19	8951987	8951987	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaggcagagctggtttcTtccacagaggattgactagg	11	9	14	7	0	1	4	0	1	1	3	2	6	2	5	1	4	1	3	1	4	2	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.24783A>T	p.Glu8261Asp	p.E8261D	ENST00000397910	3/84	166	119	47	174	174	0	strelka-varscan-mutect	MUC16,missense_variant,p.Glu8261Asp,ENST00000397910,NM_024690.2;	A	ENST00000397910	Transcript	missense_variant	24987/43816	24783/43524	8261/14507	E/D	gaA/gaT		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	8951987	8951987	T	A	1	0	0	0	0	1	0	0	0	9972	1606	56	4		4	MUC16	19	8951987	Missense_Mutation	SNP	T	C3N-02089_TP	745	8951987	49665629	924	29721											
ZNF846	0	.	GRCh38	chr19	9757604	9757604	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgtgaacgttaaggtaTgtggaatacctgaaggcttt	10	13	13	5	2	0	2	0	2	0	0	0	3	0	3	1	3	2	3	1	3	6	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1473A>T	p.=	p.T491T	ENST00000397902	6/6	148	112	36	177	177	0	strelka-varscan-mutect	ZNF846,synonymous_variant,p.=,ENST00000397902,NM_001077624.1;ZNF846,3_prime_UTR_variant,,ENST00000586293,;ZNF846,intron_variant,,ENST00000588267,;ZNF846,intron_variant,,ENST00000592859,;ZNF846,downstream_gene_variant,,ENST00000589412,;ZNF846,downstream_gene_variant,,ENST00000592587,;ZNF846,downstream_gene_variant,,ENST00000586814,;ZNF846,downstream_gene_variant,,ENST00000587650,;ZNF846,downstream_gene_variant,,ENST00000590471,;ZNF846,intron_variant,,ENST00000589453,;ZNF846,downstream_gene_variant,,ENST00000591377,;CTD-2623N2.3,upstream_gene_variant,,ENST00000588113,;	A	ENST00000397902	Transcript	synonymous_variant	1887/2016	1473/1602	491/533	T	acA/acT		1		-1	ZNF846	HGNC	HGNC:27260	protein_coding	YES	CCDS42496.1	ENSP00000380999	Q147U1		UPI000041AAC3	NM_001077624.1			6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF157,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00614,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		rs1277360127	.												A	2	1	90	9757604	9757604	T	A	1	0	0	0	0	0	0	0	1	18780	1451	51	4		4	ZNF846	19	9757604	Silent	SNP	T	C3N-02089_TP	805617	9757604	48860012	925	29722											
TYK2	0	.	GRCh38	chr19	10357897	10357897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcattcgggggccagcCaggggatcctctccacccgc	6	6	14	15	2	1	0	0	0	1	0	4	1	2	1	5	5	1	2	5	5	1	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2333G>T	p.Trp778Leu	p.W778L	ENST00000525621	17/25	287	200	87	242	240	2	strelka-varscan-mutect	TYK2,missense_variant,p.Trp778Leu,ENST00000525621,NM_003331.4;TYK2,missense_variant,p.Trp778Leu,ENST00000264818,;TYK2,missense_variant,p.Trp593Leu,ENST00000524462,;TYK2,missense_variant,p.Trp778Leu,ENST00000529370,;TYK2,downstream_gene_variant,,ENST00000525220,;TYK2,upstream_gene_variant,,ENST00000530560,;TYK2,upstream_gene_variant,,ENST00000529422,;TYK2,upstream_gene_variant,,ENST00000592137,;TYK2,3_prime_UTR_variant,,ENST00000533334,;TYK2,non_coding_transcript_exon_variant,,ENST00000529412,;TYK2,upstream_gene_variant,,ENST00000529739,;TYK2,upstream_gene_variant,,ENST00000530220,;TYK2,upstream_gene_variant,,ENST00000527481,;TYK2,upstream_gene_variant,,ENST00000534228,;TYK2,downstream_gene_variant,,ENST00000531620,;	A	ENST00000525621	Transcript	missense_variant	2815/4347	2333/3564	778/1187	W/L	tGg/tTg		1		-1	TYK2	HGNC	HGNC:12440	protein_coding	YES	CCDS12236.1	ENSP00000431885	P29597	A0A024R7E4	UPI000013D573	NM_003331.4	deleterious(0)		17/25		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000636,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF244,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	10357897	10357897	C	A	1	0	0	0	0	1	0	0	0	17325	595	21	2		2	TYK2	19	10357897	Missense_Mutation	SNP	C	C3N-02089_TP	600293	10357897	48259719	926	29723											
KEAP1	0	.	GRCh38	chr19	10489368	10489368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agttgtgcaggacgcagacgCctaaagggcaccatgcagag	12	5	14	10	2	0	2	0	0	0	2	0	3	0	3	2	2	2	5	2	2	2	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1532G>T	p.Gly511Val	p.G511V	ENST00000171111	5/6	48	31	17	41	41	0	strelka-varscan-mutect	KEAP1,missense_variant,p.Gly511Val,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Gly511Val,ENST00000393623,NM_012289.3;KEAP1,intron_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000592055,;CTC-429L19.3,downstream_gene_variant,,ENST00000592671,;KEAP1,downstream_gene_variant,,ENST00000588024,;KEAP1,missense_variant,p.Arg102Ser,ENST00000590593,;KEAP1,non_coding_transcript_exon_variant,,ENST00000590237,;KEAP1,downstream_gene_variant,,ENST00000585845,;	A	ENST00000171111	Transcript	missense_variant,splice_region_variant	2080/2955	1532/1875	511/624	G/V	gGc/gTc		1		-1	KEAP1	HGNC	HGNC:23177	protein_coding	YES	CCDS12239.1	ENSP00000171111	Q14145	A0A024R7C0	UPI000007139C	NM_203500.1	deleterious(0)		5/6		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	10489368	10489368	C	A	1	0	0	0	0	1	0	0	0	8061	753	26	2		2	KEAP1	19	10489368	Missense_Mutation	SNP	C	C3N-02089_TP	131471	10489368	48128248	927	29724											
SMARCA4	0	.	GRCh38	chr19	10994947	10994947	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taccatgccaacacggagcgGgagcagaagaaagagaacga	17	2	13	9	3	0	3	0	0	0	3	0	7	0	5	2	2	6	1	2	2	5	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1539G>T	p.=	p.R513R	ENST00000429416	10/36	310	216	94	301	301	0	strelka-varscan-mutect	SMARCA4,synonymous_variant,p.=,ENST00000429416,NM_001128844.1;SMARCA4,synonymous_variant,p.=,ENST00000413806,;SMARCA4,synonymous_variant,p.=,ENST00000450717,NM_001128849.1;SMARCA4,synonymous_variant,p.=,ENST00000344626,NM_003072.3;SMARCA4,synonymous_variant,p.=,ENST00000590574,NM_001128847.1;SMARCA4,synonymous_variant,p.=,ENST00000589677,NM_001128846.1;SMARCA4,synonymous_variant,p.=,ENST00000541122,NM_001128845.1;SMARCA4,synonymous_variant,p.=,ENST00000444061,NM_001128848.1;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;	T	ENST00000429416	Transcript	synonymous_variant	1820/5691	1539/4944	513/1647	R	cgG/cgT		1		1	SMARCA4	HGNC	HGNC:11100	protein_coding	YES	CCDS12253.1	ENSP00000395654	P51532	A7E2E1	UPI000006F973	NM_001128844.1			10/36		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51204,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,Pfam_domain:PF07529,SMART_domains:SM00573																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	90	10994947	10994947	G	T	1	0	0	0	0	0	0	0	1	15063	1219	43	2		2	SMARCA4	19	10994947	Silent	SNP	G	C3N-02089_TP	505579	10994947	47622669	928	29725											
ZNF823	0	.	GRCh38	chr19	11722315	11722315	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagtgtgagtcctttCatgtctttgaaataaactgg	9	15	8	9	0	3	2	1	2	2	0	5	2	4	2	2	1	1	0	2	1	3	3	rs756194619		C3N-02089_TP	C3N-02089_NB	C	C																c.1219G>T	p.Glu407Ter	p.E407*	ENST00000341191	4/4	180	159	21	205	205	0	strelka-varscan-mutect	ZNF823,stop_gained,p.Glu407Ter,ENST00000341191,NM_001080493.3;ZNF823,stop_gained,p.Glu363Ter,ENST00000431998,NM_017507.1;ZNF823,downstream_gene_variant,,ENST00000586121,;ZNF823,downstream_gene_variant,,ENST00000440527,;CTC-499B15.6,downstream_gene_variant,,ENST00000586983,;	A	ENST00000341191	Transcript	stop_gained	1373/2423	1219/1833	407/610	E/*	Gaa/Taa	rs756194619	1		-1	ZNF823	HGNC	HGNC:30936	protein_coding	YES	CCDS45981.1	ENSP00000340683	P16415		UPI0000203407	NM_001080493.3			4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF27,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		rs756194619	.												A	4	1	90	11722315	11722315	C	A	1	0	0	0	0	0	1	0	0	18765	835	29	2		2	ZNF823	19	11722315	Nonsense_Mutation	SNP	C	C3N-02089_TP	727368	11722315	46895301	929	29726											
GCDH	0	.	GRCh38	chr19	12891862	12891862	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtttgactggcaggacccGctggtgctggaggagcagct	7	8	17	9	1	0	1	0	1	0	0	0	5	0	4	1	5	3	6	1	5	0	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.159G>T	p.=	p.P53P	ENST00000222214	4/12	427	300	127	457	454	3	strelka-varscan-mutect	GCDH,synonymous_variant,p.=,ENST00000222214,NM_000159.3,NM_013976.3;GCDH,synonymous_variant,p.=,ENST00000591470,;GCDH,synonymous_variant,p.=,ENST00000588905,;GCDH,synonymous_variant,p.=,ENST00000589039,;GCDH,synonymous_variant,p.=,ENST00000587072,;KLF1,upstream_gene_variant,,ENST00000264834,NM_006563.3;GCDH,synonymous_variant,p.=,ENST00000590530,;GCDH,3_prime_UTR_variant,,ENST00000590445,;GCDH,non_coding_transcript_exon_variant,,ENST00000591043,;GCDH,non_coding_transcript_exon_variant,,ENST00000585420,;GCDH,non_coding_transcript_exon_variant,,ENST00000421816,;GCDH,non_coding_transcript_exon_variant,,ENST00000590627,;GCDH,non_coding_transcript_exon_variant,,ENST00000587832,;GCDH,non_coding_transcript_exon_variant,,ENST00000585760,;RPS6P25,upstream_gene_variant,,ENST00000464444,;	T	ENST00000222214	Transcript	synonymous_variant	370/1956	159/1317	53/438	P	ccG/ccT		1		1	GCDH	HGNC	HGNC:4189	protein_coding	YES	CCDS12286.1	ENSP00000222214	Q92947	A0A024R7F9	UPI000012B292	NM_000159.3,NM_013976.3			4/12		hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF307,Gene3D:1.10.540.10,Superfamily_domains:SSF56645																	LOW	1	SNV	1			1										PASS		rs1315058754	.												T	2	4	90	12891862	12891862	G	T	1	0	0	0	0	0	0	0	1	6157	1074	38	1		1	GCDH	19	12891862	Silent	SNP	G	C3N-02089_TP	1169547	12891862	45725754	930	29727											
CACNA1A	0	.	GRCh38	chr19	13234958	13234958	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctggaagaaggtccggaAgttattgtgctcagtgattt	9	12	14	6	1	1	2	1	1	0	1	2	4	2	4	2	4	1	2	2	4	4	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.5212T>G	p.Phe1738Val	p.F1738V	ENST00000360228	34/47	158	119	39	156	156	0	strelka-varscan-mutect	CACNA1A,missense_variant,p.Phe1739Val,ENST00000638009,NM_001127221.1;CACNA1A,missense_variant,p.Phe1739Val,ENST00000635895,;CACNA1A,missense_variant,p.Phe1739Val,ENST00000637769,;CACNA1A,missense_variant,p.Phe1738Val,ENST00000360228,NM_001127222.1;CACNA1A,missense_variant,p.Phe1744Val,ENST00000614285,;CACNA1A,missense_variant,p.Phe1692Val,ENST00000637736,;CACNA1A,missense_variant,p.Phe1739Val,ENST00000636389,;CACNA1A,missense_variant,p.Phe1744Val,ENST00000638029,NM_023035.2;CACNA1A,missense_variant,p.Phe1744Val,ENST00000637432,NM_000068.3;CACNA1A,missense_variant,p.Phe1740Val,ENST00000573710,;CACNA1A,missense_variant,p.Phe1739Val,ENST00000635727,;CACNA1A,missense_variant,p.Phe1739Val,ENST00000636012,;CACNA1A,missense_variant,p.Phe1739Val,ENST00000637276,;CACNA1A,missense_variant,p.Phe1740Val,ENST00000637927,;CACNA1A,missense_variant,p.Phe1741Val,ENST00000636549,NM_001174080.1;CACNA1A,missense_variant,p.Phe225Val,ENST00000587525,;CACNA1A,missense_variant,p.Phe125Val,ENST00000585802,;CACNA1A,missense_variant,p.Phe103Val,ENST00000636473,;CACNA1A,missense_variant,p.Phe206Val,ENST00000637819,;CACNA1A,missense_variant,p.Phe170Val,ENST00000637297,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000574822,;CACNA1A,3_prime_UTR_variant,,ENST00000573891,;CACNA1A,3_prime_UTR_variant,,ENST00000637777,;CACNA1A,3_prime_UTR_variant,,ENST00000636058,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000635742,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000637809,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000637832,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000593267,;CACNA1A,upstream_gene_variant,,ENST00000636768,;	C	ENST00000360228	Transcript	missense_variant	5447/8627	5212/7521	1738/2506	F/V	Ttc/Gtc		1		-1	CACNA1A	HGNC	HGNC:1388	protein_coding	YES	CCDS45998.1	ENSP00000353362	O00555		UPI0000141565	NM_001127222.1	deleterious(0)		34/47		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00167																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	13234958	13234958	A	C	1	0	0	0	0	1	0	0	0	2226	72	3	5		5	CACNA1A	19	13234958	Missense_Mutation	SNP	A	C3N-02089_TP	343096	13234958	45382658	931	29728											
NWD1	0	.	GRCh38	chr19	16815148	16815148	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaatttccagtgcctttCagcaaaagcctcaccgcagg	12	8	9	12	1	2	1	2	0	0	1	3	2	3	1	4	1	3	2	4	1	3	2	rs771041627		C3N-02089_TP	C3N-02089_NB	C	C																c.4514C>A	p.Ser1505Ter	p.S1505*	ENST00000552788	18/18	401	295	106	378	378	0	strelka-varscan-mutect	NWD1,stop_gained,p.Ser1505Ter,ENST00000552788,NM_001290355.1;NWD1,stop_gained,p.Ser1463Ter,ENST00000549814,;NWD1,3_prime_UTR_variant,,ENST00000524140,NM_001007525.3;NWD1,3_prime_UTR_variant,,ENST00000379808,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;	A	ENST00000552788	Transcript	stop_gained	4514/6964	4514/4695	1505/1564	S/*	tCa/tAa	rs771041627	1		1	NWD1	HGNC	HGNC:27619	protein_coding			ENSP00000447224	Q149M9		UPI0001AE63B7	NM_001290355.1			18/18																			HIGH		SNV	5			1										PASS		rs771041627	.												A	4	1	90	16815148	16815148	C	A	1	0	0	0	0	0	1	0	0	10854	838	29	2		2	NWD1	19	16815148	Nonsense_Mutation	SNP	C	C3N-02089_TP	3580190	16815148	41802468	932	29729											
ZNF208	0	.	GRCh38	chr19	21973964	21973964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgaattaccttatgtttaGtaaggattgagaacttacta	14	16	7	4	0	0	2	0	2	0	1	0	4	0	3	1	1	3	2	1	1	9	9	rs780894918		C3N-02089_TP	C3N-02089_NB	G	G																c.1070C>A	p.Thr357Asn	p.T357N	ENST00000397126	4/4	142	123	19	225	224	1	varscan-mutect	ZNF208,missense_variant,p.Thr357Asn,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Thr357Asn,ENST00000609966,;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;	T	ENST00000397126	Transcript	missense_variant	1219/3992	1070/3843	357/1280	T/N	aCt/aAt	rs780894918	1		-1	ZNF208	HGNC	HGNC:12999	protein_coding	YES	CCDS54240.1	ENSP00000380315	O43345		UPI0001B23C28	NM_007153.3	tolerated(0.35)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF103,hmmpanther:PTHR24375,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		rs780894918	.												T	3	4	90	21973964	21973964	G	T	1	0	0	0	0	1	0	0	0	18343	1029	36	2		2	ZNF208	19	21973964	Missense_Mutation	SNP	G	C3N-02089_TP	5158816	21973964	36643652	933	29730											
ZNF98	0	.	GRCh38	chr19	22392793	22392793	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatattttgttctgggtagTtgtcaaacactggttaagtc	11	16	9	5	0	2	0	1	0	1	0	3	0	2	0	0	2	1	4	0	2	5	7	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.442A>G	p.Thr148Ala	p.T148A	ENST00000357774	4/4	75	54	21	109	109	0	strelka-varscan-mutect	ZNF98,missense_variant,p.Thr148Ala,ENST00000357774,NM_001098626.1;ZNF98,missense_variant,p.Thr107Ala,ENST00000593657,;	C	ENST00000357774	Transcript	missense_variant	564/2338	442/1719	148/572	T/A	Act/Gct		1		-1	ZNF98	HGNC	HGNC:13174	protein_coding	YES	CCDS46031.1	ENSP00000350418	A6NK75		UPI0000251DC5	NM_001098626.1	tolerated(0.21)		4/4		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108																	MODERATE	1	SNV	3			1										PASS		.	.												C	3	2	90	22392793	22392793	T	C	1	0	0	0	0	1	0	0	0	18796	1725	60	5		5	ZNF98	19	22392793	Missense_Mutation	SNP	T	C3N-02089_TP	418829	22392793	36224823	934	29731											
ZNF492	0	.	GRCh38	chr19	22665095	22665095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgattcatactggagagaaaCcctacaagtgtgaagaatgt	15	10	10	6	0	1	4	1	2	0	2	1	6	1	5	1	1	3	0	1	1	6	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1426C>G	p.Pro476Ala	p.P476A	ENST00000456783	4/4	150	135	15	190	189	1	varscan-mutect	ZNF492,missense_variant,p.Pro476Ala,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;	G	ENST00000456783	Transcript	missense_variant	1670/4245	1426/1596	476/531	P/A	Ccc/Gcc		1		1	ZNF492	HGNC	HGNC:23707	protein_coding	YES	CCDS46032.1	ENSP00000413660	Q9P255		UPI00001C200B	NM_020855.2	deleterious(0.01)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1320712855	.												G	3	3	90	22665095	22665095	C	G	1	0	0	0	0	1	0	0	0	18516	507	18	4		4	ZNF492	19	22665095	Missense_Mutation	SNP	C	C3N-02089_TP	272302	22665095	35952521	935	29732											
ZNF728	0	.	GRCh38	chr19	22975939	22975939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attgccttatgtgtagtaagGcttgaggaccagctgaagac	11	11	12	7	0	0	3	0	2	0	1	0	4	0	4	2	2	2	4	2	2	4	5	rs752354751		C3N-02089_TP	C3N-02089_NB	G	G																c.1398C>A	p.Ser466Arg	p.S466R	ENST00000594710	4/4	130	98	32	194	194	0	strelka-varscan-mutect	ZNF728,missense_variant,p.Ser466Arg,ENST00000594710,NM_001267716.1;ZNF728,downstream_gene_variant,,ENST00000599851,;	T	ENST00000594710	Transcript	missense_variant	1544/2015	1398/1869	466/622	S/R	agC/agA	rs752354751	1		-1	ZNF728	HGNC	HGNC:32463	protein_coding	YES	CCDS59370.1	ENSP00000471593	P0DKX0		UPI0002656E4B	NM_001267716.1	tolerated(0.39)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF239,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		rs752354751	.												T	3	4	90	22975939	22975939	G	T	1	0	0	0	0	1	0	0	0	18702	1194	42	2		2	ZNF728	19	22975939	Missense_Mutation	SNP	G	C3N-02089_TP	310844	22975939	35641677	936	29733											
UQCRFS1	0	.	GRCh38	chr19	29207788	29207788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcatgctgtgggtccctCaactgtgataattcaactgc	10	12	9	10	0	3	2	3	1	0	1	4	2	4	2	1	1	4	1	1	1	3	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.585G>T	p.Leu195Phe	p.L195F	ENST00000304863	2/2	253	194	59	209	207	2	strelka-varscan-mutect	UQCRFS1,missense_variant,p.Leu195Phe,ENST00000304863,NM_006003.2;	A	ENST00000304863	Transcript	missense_variant	1008/3475	585/825	195/274	L/F	ttG/ttT		1		-1	UQCRFS1	HGNC	HGNC:12587	protein_coding	YES	CCDS12415.1	ENSP00000306397	P47985		UPI000013E9D6	NM_006003.2	deleterious(0)		2/2		PROSITE_profiles:PS51296,hmmpanther:PTHR10134,hmmpanther:PTHR10134:SF9,TIGRFAM_domain:TIGR01416,Gene3D:2.102.10.10,Pfam_domain:PF00355,Superfamily_domains:SSF50022																	MODERATE	1	SNV	1			1										PASS		rs1350969281	.												A	3	1	90	29207788	29207788	C	A	1	0	0	0	0	1	0	0	0	17549	825	29	2		2	UQCRFS1	19	29207788	Missense_Mutation	SNP	C	C3N-02089_TP	6231849	29207788	29409828	937	29734											
TSHZ3	0	.	GRCh38	chr19	31277180	31277180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccccgtcaatgtcagaCttctcggagatgctggaagg	8	9	14	10	2	3	2	2	0	1	2	4	4	3	3	2	4	1	1	2	4	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2613G>T	p.Lys871Asn	p.K871N	ENST00000240587	2/2	106	80	26	90	89	1	strelka-varscan-mutect	TSHZ3,missense_variant,p.Lys871Asn,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;	A	ENST00000240587	Transcript	missense_variant	2941/5176	2613/3246	871/1081	K/N	aaG/aaT		1		-1	TSHZ3	HGNC	HGNC:30700	protein_coding	YES	CCDS12421.2	ENSP00000240587	Q63HK5		UPI0000202000	NM_020856.2	deleterious(0)		2/2		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1465900081	.												A	3	1	90	31277180	31277180	C	A	1	0	0	0	0	1	0	0	0	17130	564	20	2		2	TSHZ3	19	31277180	Missense_Mutation	SNP	C	C3N-02089_TP	2069392	31277180	27340436	938	29735											
GRAMD1A	0	.	GRCh38	chr19	35010379	35010379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgcacggagagcgagaaGgtgacggaggacccggtgac	11	4	17	9	4	1	4	0	2	1	2	1	8	1	6	1	5	2	1	1	5	1	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.525G>T	p.Lys175Asn	p.K175N	ENST00000317991	6/20	300	220	80	227	227	0	strelka-varscan-mutect	GRAMD1A,missense_variant,p.Lys262Asn,ENST00000599564,NM_001320036.1;GRAMD1A,missense_variant,p.Lys175Asn,ENST00000317991,NM_001320034.1,NM_020895.3;GRAMD1A,missense_variant,p.Lys168Asn,ENST00000411896,NM_001136199.1;GRAMD1A,missense_variant,p.Lys175Asn,ENST00000424536,;CTD-2527I21.14,downstream_gene_variant,,ENST00000605640,;GRAMD1A,non_coding_transcript_exon_variant,,ENST00000594597,;GRAMD1A,downstream_gene_variant,,ENST00000598073,;GRAMD1A,downstream_gene_variant,,ENST00000603669,;GRAMD1A,missense_variant,p.Lys175Asn,ENST00000600231,NM_001320035.1;GRAMD1A,non_coding_transcript_exon_variant,,ENST00000599476,;GRAMD1A,upstream_gene_variant,,ENST00000598118,;GRAMD1A,upstream_gene_variant,,ENST00000595596,;GRAMD1A,upstream_gene_variant,,ENST00000598362,;GRAMD1A,upstream_gene_variant,,ENST00000598580,;	T	ENST00000317991	Transcript	missense_variant,splice_region_variant	717/2695	525/2175	175/724	K/N	aaG/aaT		1		1	GRAMD1A	HGNC	HGNC:29305	protein_coding	YES	CCDS42546.1	ENSP00000441032	Q96CP6		UPI00000377B4	NM_001320034.1,NM_020895.3	deleterious(0)		6/20		hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF8																	MODERATE	1	SNV	1			1										PASS		rs1171473459	.												T	3	4	90	35010379	35010379	G	T	1	0	0	0	0	1	0	0	0	6626	1014	35	2		2	GRAMD1A	19	35010379	Missense_Mutation	SNP	G	C3N-02089_TP	3733199	35010379	23607237	939	29736											
MAG	0	.	GRCh38	chr19	35295829	35295829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacgagagcttccagggccGcagccgcctcctgggggacc	6	4	14	17	3	0	1	0	0	0	1	2	3	2	2	7	3	2	2	7	3	0	1	rs764252583		C3N-02089_TP	C3N-02089_NB	G	G																c.263G>T	p.Arg88Leu	p.R88L	ENST00000392213	4/11	255	190	65	129	129	0	strelka-varscan-mutect	MAG,missense_variant,p.Arg88Leu,ENST00000361922,NM_080600.2;MAG,missense_variant,p.Arg88Leu,ENST00000392213,NM_002361.3;MAG,missense_variant,p.Arg63Leu,ENST00000537831,NM_001199216.1;MAG,missense_variant,p.Arg88Leu,ENST00000595791,;MAG,missense_variant,p.Arg63Leu,ENST00000600291,;MAG,intron_variant,,ENST00000597035,;	T	ENST00000392213	Transcript	missense_variant	422/2390	263/1881	88/626	R/L	cGc/cTc	rs764252583,COSM386939,COSM386940	1		1	MAG	HGNC	HGNC:6783	protein_coding	YES	CCDS12455.1	ENSP00000376048	P20916		UPI000012EB2F	NM_002361.3	deleterious(0)		4/11		Gene3D:2.60.40.10,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF54,Low_complexity_(Seg):seg,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs764252583	.												T	3	4	90	35295829	35295829	G	T	1	0	0	0	0	1	0	0	0	9078	1087	38	1		1	MAG	19	35295829	Missense_Mutation	SNP	G	C3N-02089_TP	285450	35295829	23321787	940	29737											
ARHGAP33	0	.	GRCh38	chr19	35780258	35780258	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgaggaggcgtcactCaatatccctgcagtggcggc	8	8	13	12	2	3	1	3	1	0	0	4	2	4	2	1	4	1	1	1	4	2	1	rs775899107		C3N-02089_TP	C3N-02089_NB	C	C																c.549C>A	p.=	p.L183L	ENST00000314737	7/21	211	167	44	121	120	1	strelka-varscan-mutect	ARHGAP33,synonymous_variant,p.=,ENST00000378944,NM_001172630.1;ARHGAP33,synonymous_variant,p.=,ENST00000314737,NM_052948.3;ARHGAP33,synonymous_variant,p.=,ENST00000007510,;ARHGAP33,upstream_gene_variant,,ENST00000587447,;ARHGAP33,upstream_gene_variant,,ENST00000588248,;ARHGAP33,downstream_gene_variant,,ENST00000221905,;ARHGAP33,downstream_gene_variant,,ENST00000589133,;ARHGAP33,upstream_gene_variant,,ENST00000591438,;ARHGAP33,upstream_gene_variant,,ENST00000593034,;ARHGAP33,upstream_gene_variant,,ENST00000601474,;ARHGAP33,upstream_gene_variant,,ENST00000587984,;ARHGAP33,downstream_gene_variant,,ENST00000590893,;ARHGAP33,upstream_gene_variant,,ENST00000586918,;	A	ENST00000314737	Transcript	synonymous_variant	633/3858	549/3381	183/1126	L	ctC/ctA	rs775899107	1		1	ARHGAP33	HGNC	HGNC:23085	protein_coding	YES	CCDS12477.1	ENSP00000320038	O14559		UPI000013F8F9	NM_052948.3			7/21		hmmpanther:PTHR15729:SF11,hmmpanther:PTHR15729																	LOW	1	SNV	2			1										PASS		rs775899107	.												A	2	1	90	35780258	35780258	C	A	1	0	0	0	0	0	0	0	1	1007	813	29	2		2	ARHGAP33	19	35780258	Silent	SNP	C	C3N-02089_TP	484429	35780258	22837358	941	29738											
KIRREL2	0	.	GRCh38	chr19	35866422	35866422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggcccccagatctggcccCcgggactccccccttcccat	4	7	9	21	1	1	1	0	0	1	1	3	2	3	2	8	3	0	0	8	3	0	1	rs756538382		C3N-02089_TP	C3N-02089_NB	C	C																c.2057C>A	p.Pro686His	p.P686H	ENST00000360202	15/15	320	223	97	218	217	1	strelka-varscan-mutect	KIRREL2,missense_variant,p.Pro686His,ENST00000360202,NM_199180.3;KIRREL2,missense_variant,p.Pro651His,ENST00000592409,;KIRREL2,intron_variant,,ENST00000347900,NM_199179.3;KIRREL2,intron_variant,,ENST00000262625,NM_032123.6;APLP1,upstream_gene_variant,,ENST00000221891,NM_005166.3,NM_001024807.1;APLP1,upstream_gene_variant,,ENST00000537454,;APLP1,upstream_gene_variant,,ENST00000586861,;APLP1,upstream_gene_variant,,ENST00000592316,;APLP1,upstream_gene_variant,,ENST00000589743,;NPHS1,intron_variant,,ENST00000591817,;APLP1,upstream_gene_variant,,ENST00000590561,;	A	ENST00000360202	Transcript	missense_variant	2255/2942	2057/2127	686/708	P/H	cCc/cAc	rs756538382	1		1	KIRREL2	HGNC	HGNC:18816	protein_coding	YES	CCDS12481.1	ENSP00000353331	Q6UWL6		UPI0000048F5B	NM_199180.3	deleterious(0)		15/15		Low_complexity_(Seg):seg,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF51																	MODERATE	1	SNV	1			1										PASS		rs756538382	.												A	3	1	90	35866422	35866422	C	A	1	0	0	0	0	1	0	0	0	8189	623	22	2		2	KIRREL2	19	35866422	Missense_Mutation	SNP	C	C3N-02089_TP	86164	35866422	22751194	942	29739											
WDR62	0	.	GRCh38	chr19	36089105	36089105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactttcgcagtgcccagcaGgtagggtggcatggcctcct	6	10	13	12	1	0	0	0	0	0	0	2	0	1	0	3	4	3	4	3	4	2	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1836G>T	p.Gln612His	p.Q612H	ENST00000401500	14/32	510	427	83	368	368	0	strelka-varscan-mutect	WDR62,missense_variant,p.Gln612His,ENST00000401500,NM_001083961.1;WDR62,missense_variant,p.Gln612His,ENST00000270301,NM_173636.4;WDR62,splice_region_variant,,ENST00000587391,;	T	ENST00000401500	Transcript	missense_variant,splice_region_variant	1871/4682	1836/4572	612/1523	Q/H	caG/caT		1		1	WDR62	HGNC	HGNC:24502	protein_coding	YES	CCDS46059.1	ENSP00000384792	O43379		UPI000022A7E9	NM_001083961.1	deleterious(0)		14/32		PROSITE_profiles:PS50294,hmmpanther:PTHR22847:SF434,hmmpanther:PTHR22847,Gene3D:2.130.10.10																	MODERATE	1	SNV	1			1										PASS		rs896840471	.												T	3	4	90	36089105	36089105	G	T	1	0	0	0	0	1	0	0	0	17872	1014	35	2		2	WDR62	19	36089105	Missense_Mutation	SNP	G	C3N-02089_TP	222683	36089105	22528511	943	29740											
ZNF567	0	.	GRCh38	chr19	36719370	36719370	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttggatataatgactgtGagaaatcattccttcaaagg	14	13	8	6	0	2	2	2	2	0	1	3	4	3	3	1	2	0	0	1	2	4	5	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.646G>T	p.Glu216Ter	p.E216*	ENST00000536254	6/6	221	171	50	217	217	0	strelka-varscan-mutect	ZNF567,stop_gained,p.Glu185Ter,ENST00000585696,;ZNF567,stop_gained,p.Glu216Ter,ENST00000536254,NM_001322917.1,NM_001322918.1,NM_001322915.1,NM_001322916.1,NM_001322913.1,NM_001300979.1;ZNF567,stop_gained,p.Glu185Ter,ENST00000360729,NM_001322912.1,NM_001322911.1,NM_152603.3;ZNF567,stop_gained,p.Glu185Ter,ENST00000588311,;ZNF850,intron_variant,,ENST00000589390,;ZNF567,intron_variant,,ENST00000589264,;ZNF567,intron_variant,,ENST00000591308,;	T	ENST00000536254	Transcript	stop_gained	868/2825	646/1944	216/647	E/*	Gag/Tag		1		1	ZNF567	HGNC	HGNC:28696	protein_coding	YES	CCDS74349.1	ENSP00000441838	Q8N184		UPI000022A7F5	NM_001322917.1,NM_001322918.1,NM_001322915.1,NM_001322916.1,NM_001322913.1,NM_001300979.1			6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF25,Superfamily_domains:SSF57667																	HIGH	1	SNV	2			1										PASS		rs912984115	.												T	4	4	90	36719370	36719370	G	T	1	0	0	0	0	0	1	0	0	18572	1291	45	2		2	ZNF567	19	36719370	Nonsense_Mutation	SNP	G	C3N-02089_TP	630265	36719370	21898246	944	29741											
ZNF568	0	.	GRCh38	chr19	36991825	36991825	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggatggttaagaggaagGagacaaaagaatggtgtcca	15	7	14	5	0	0	3	0	0	0	3	1	6	1	5	2	5	0	1	2	5	5	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.604G>T	p.Glu202Ter	p.E202*	ENST00000617745	7/8	86	74	12	91	91	0	strelka-varscan-mutect	ZNF568,stop_gained,p.Glu202Ter,ENST00000617745,NM_001204838.1;ZNF568,stop_gained,p.Glu138Ter,ENST00000455427,NM_001204839.1;ZNF568,stop_gained,p.Glu202Ter,ENST00000444991,;ZNF568,stop_gained,p.Glu70Ter,ENST00000433993,;ZNF568,stop_gained,p.Glu6Ter,ENST00000455817,;ZNF568,stop_gained,p.Glu6Ter,ENST00000588596,;ZNF568,downstream_gene_variant,,ENST00000592567,;ZNF568,non_coding_transcript_exon_variant,,ENST00000591887,;	T	ENST00000617745	Transcript	stop_gained	804/2441	604/1908	202/635	E/*	Gag/Tag		1		1	ZNF568	HGNC	HGNC:25392	protein_coding		CCDS74351.1	ENSP00000482444		A0A087WZ84	UPI0001FD28F8	NM_001204838.1			7/8		PROSITE_profiles:PS50805																	HIGH		SNV	5			1										PASS		.	.												T	4	4	90	36991825	36991825	G	T	1	0	0	0	0	0	1	0	0	18573	1175	41	2		2	ZNF568	19	36991825	Nonsense_Mutation	SNP	G	C3N-02089_TP	272455	36991825	21625791	945	29742											
HKR1	0	.	GRCh38	chr19	37362869	37362869	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggctcaagccttatgtGtgcaaggaatgtgggcagag	10	9	15	7	0	2	1	2	0	0	1	2	2	2	2	1	3	2	3	1	3	4	1	rs202210305		C3N-02089_TP	C3N-02089_NB	G	G																c.1074G>T	p.=	p.V358V	ENST00000324411	6/6	276	218	58	259	259	0	strelka-varscan-mutect	HKR1,synonymous_variant,p.=,ENST00000591471,;HKR1,synonymous_variant,p.=,ENST00000324411,NM_181786.2;HKR1,synonymous_variant,p.=,ENST00000544914,;HKR1,synonymous_variant,p.=,ENST00000392153,;HKR1,synonymous_variant,p.=,ENST00000541583,;HKR1,synonymous_variant,p.=,ENST00000589392,;HKR1,intron_variant,,ENST00000591134,;HKR1,downstream_gene_variant,,ENST00000591259,;HKR1,downstream_gene_variant,,ENST00000590582,;HKR1,downstream_gene_variant,,ENST00000592768,;HKR1,downstream_gene_variant,,ENST00000585623,;HKR1,downstream_gene_variant,,ENST00000592168,;HKR1,downstream_gene_variant,,ENST00000591391,;HKR1,downstream_gene_variant,,ENST00000591417,;HKR1,downstream_gene_variant,,ENST00000586897,;HKR1,non_coding_transcript_exon_variant,,ENST00000588820,;HKR1,downstream_gene_variant,,ENST00000590570,;	T	ENST00000324411	Transcript	synonymous_variant	1343/2929	1074/1980	358/659	V	gtG/gtT	rs202210305	1		1	HKR1	HGNC	HGNC:4928	protein_coding	YES	CCDS12502.1	ENSP00000315505	P10072		UPI00001AE470	NM_181786.2			6/6		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF129,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		rs202210305	.												T	2	4	90	37362869	37362869	G	T	1	0	0	0	0	0	0	0	1	7083	1364	48	2		2	HKR1	19	37362869	Silent	SNP	G	C3N-02089_TP	371044	37362869	21254747	946	29743											
RYR1	0	.	GRCh38	chr19	38440795	38440795	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgctcaaggagcagctCaagctctgcctggccgccga	8	6	12	15	3	3	0	2	0	1	0	3	2	3	1	4	2	5	4	4	2	2	0	rs768813714		C3N-02089_TP	C3N-02089_NB	C	C																c.96C>A	p.=	p.L32L	ENST00000359596	2/106	155	124	31	107	107	0	strelka-varscan-mutect	RYR1,synonymous_variant,p.=,ENST00000355481,NM_001042723.1;RYR1,synonymous_variant,p.=,ENST00000359596,NM_000540.2;	A	ENST00000359596	Transcript	synonymous_variant	96/15117	96/15117	32/5038	L	ctC/ctA	rs768813714	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2			2/106		hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF08709,Gene3D:2.80.10.50																	LOW	1	SNV	5			1										PASS		rs768813714	.												A	2	1	90	38440795	38440795	C	A	1	0	0	0	0	0	0	0	1	14028	813	29	2		2	RYR1	19	38440795	Silent	SNP	C	C3N-02089_TP	1077926	38440795	20176821	947	29744											
RYR1	0	.	GRCh38	chr19	38446757	38446757	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctctggaggctggagccActgagaatcaggtagggcgg	8	7	16	10	1	2	1	1	1	1	1	3	4	3	3	2	6	1	2	2	6	2	1	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.789A>C	p.=	p.P263P	ENST00000359596	9/106	132	116	16	115	115	0	strelka-varscan-mutect	RYR1,synonymous_variant,p.=,ENST00000355481,NM_001042723.1;RYR1,synonymous_variant,p.=,ENST00000359596,NM_000540.2;	C	ENST00000359596	Transcript	synonymous_variant	789/15117	789/15117	263/5038	P	ccA/ccC		1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2			9/106		PROSITE_profiles:PS50919,hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF02815,Gene3D:2.80.10.50,SMART_domains:SM00472,Superfamily_domains:SSF82109,Prints_domain:PR00795																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	90	38446757	38446757	A	C	1	0	0	0	0	0	0	0	1	14028	146	6	5		5	RYR1	19	38446757	Silent	SNP	A	C3N-02089_TP	5962	38446757	20170859	948	29745											
RYR1	0	.	GRCh38	chr19	38455739	38455739	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccctcctggacaagcatggGaggaaccacaaggtcggccc	10	5	12	14	1	0	0	0	0	0	0	3	3	2	3	4	5	2	1	4	5	3	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1779G>T	p.=	p.G593G	ENST00000359596	16/106	530	421	109	429	428	1	strelka-varscan-mutect	RYR1,synonymous_variant,p.=,ENST00000355481,NM_001042723.1;RYR1,synonymous_variant,p.=,ENST00000359596,NM_000540.2;	T	ENST00000359596	Transcript	synonymous_variant	1779/15117	1779/15117	593/5038	G	ggG/ggT		1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2			16/106		PROSITE_profiles:PS50188,hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715,Pfam_domain:PF01365																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	90	38455739	38455739	G	T	1	0	0	0	0	0	0	0	1	14028	1161	41	2		2	RYR1	19	38455739	Silent	SNP	G	C3N-02089_TP	8982	38455739	20161877	949	29746											
RYR1	0	.	GRCh38	chr19	38517541	38517541	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgggagcgcgggcccGaggcacccccttccgccctg	4	5	16	16	4	0	0	0	0	0	0	1	3	1	1	5	4	1	1	5	4	0	1	rs112151058		C3N-02089_TP	C3N-02089_NB	G	G																c.9868G>T	p.Glu3290Ter	p.E3290*	ENST00000359596	66/106	407	324	83	349	348	1	strelka-varscan-mutect	RYR1,stop_gained,p.Glu3290Ter,ENST00000355481,NM_001042723.1;RYR1,stop_gained,p.Glu3290Ter,ENST00000359596,NM_000540.2;RYR1,stop_gained,p.Glu226Ter,ENST00000599547,;RYR1,3_prime_UTR_variant,,ENST00000594335,;	T	ENST00000359596	Transcript	stop_gained	9868/15117	9868/15117	3290/5038	E/*	Gag/Tag	rs112151058,CM091769	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2			66/106		Low_complexity_(Seg):seg,hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715																	HIGH	1	SNV	5		0,1	1										PASS		rs112151058	.												T	4	4	90	38517541	38517541	G	T	1	0	0	0	0	0	1	0	0	14028	1059	37	1		1	RYR1	19	38517541	Nonsense_Mutation	SNP	G	C3N-02089_TP	61802	38517541	20100075	950	29747											
RYR1	0	.	GRCh38	chr19	38567896	38567896	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaattctggggagaactggaGgtgcagagggtgaagttcct	10	9	17	5	0	1	3	0	1	1	2	2	6	2	4	1	5	2	2	1	5	3	2			C3N-02089_TP	C3N-02089_NB	G	G																c.13638G>A	p.=	p.E4546E	ENST00000359596	93/106	347	280	67	243	243	0	strelka-varscan-mutect	RYR1,synonymous_variant,p.=,ENST00000355481,NM_001042723.1;RYR1,synonymous_variant,p.=,ENST00000359596,NM_000540.2;RYR1,synonymous_variant,p.=,ENST00000593677,;RYR1,downstream_gene_variant,,ENST00000594335,;	A	ENST00000359596	Transcript	synonymous_variant	13638/15117	13638/15117	4546/5038	E	gaG/gaA	COSM5251931	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2			93/106		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15,Pfam_domain:PF06459											1						LOW	1	SNV	5		1	1										PASS		.	.												A	2	1	90	38567896	38567896	G	A	1	0	0	0	0	0	0	0	1	14028	991	35	3		3	RYR1	19	38567896	Silent	SNP	G	C3N-02089_TP	50355	38567896	20049720	951	29748											
IFNL1	0	.	GRCh38	chr19	39296477	39296477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctaggcttggccgtggCaggccctgtccccacttcca	4	9	13	15	1	0	0	0	0	0	0	2	0	2	0	5	5	1	3	5	5	1	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.56C>T	p.Ala19Val	p.A19V	ENST00000333625	1/5	211	170	41	186	186	0	strelka-varscan-mutect	IFNL1,missense_variant,p.Ala19Val,ENST00000333625,NM_172140.1;	T	ENST00000333625	Transcript	missense_variant	153/857	56/603	19/200	A/V	gCa/gTa		1		1	IFNL1	HGNC	HGNC:18363	protein_coding	YES	CCDS12531.1	ENSP00000329991	Q8IU54		UPI00000474AE	NM_172140.1	deleterious(0.01)		1/5		hmmpanther:PTHR31943,hmmpanther:PTHR31943:SF6,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	39296477	39296477	C	T	1	0	0	0	0	1	0	0	0	7452	710	25	3		3	IFNL1	19	39296477	Missense_Mutation	SNP	C	C3N-02089_TP	728581	39296477	19321139	952	29749											
LTBP4	0	.	GRCh38	chr19	40608517	40608517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgcctggagccccggcCtgaaccccggcccgatcccc	5	4	10	22	4	0	1	0	1	0	0	2	3	1	2	10	3	2	0	10	3	1	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1541C>T	p.Pro514Leu	p.P514L	ENST00000308370	12/33	213	170	43	196	196	0	strelka-varscan-mutect	LTBP4,missense_variant,p.Pro477Leu,ENST00000204005,NM_003573.2;LTBP4,missense_variant,p.Pro514Leu,ENST00000308370,NM_001042544.1;LTBP4,missense_variant,p.Pro447Leu,ENST00000396819,NM_001042545.1;LTBP4,upstream_gene_variant,,ENST00000243562,;LTBP4,upstream_gene_variant,,ENST00000601032,;LTBP4,upstream_gene_variant,,ENST00000599724,;LTBP4,upstream_gene_variant,,ENST00000612121,;LTBP4,upstream_gene_variant,,ENST00000597071,;LTBP4,upstream_gene_variant,,ENST00000598055,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595529,;LTBP4,intron_variant,,ENST00000598717,;LTBP4,upstream_gene_variant,,ENST00000546155,;LTBP4,upstream_gene_variant,,ENST00000598256,;LTBP4,downstream_gene_variant,,ENST00000599016,;LTBP4,downstream_gene_variant,,ENST00000600026,;LTBP4,downstream_gene_variant,,ENST00000594537,;LTBP4,upstream_gene_variant,,ENST00000600499,;LTBP4,upstream_gene_variant,,ENST00000610893,;LTBP4,upstream_gene_variant,,ENST00000612845,;LTBP4,downstream_gene_variant,,ENST00000593738,;	T	ENST00000308370	Transcript	missense_variant	1541/4948	1541/4875	514/1624	P/L	cCt/cTt		1		1	LTBP4	HGNC	HGNC:6717	protein_coding	YES	CCDS74369.1	ENSP00000311905	Q8N2S1		UPI0000DACAC4	NM_001042544.1	tolerated(0.08)		12/33		hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF43,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	40608517	40608517	C	T	1	0	0	0	0	1	0	0	0	8982	681	24	3		3	LTBP4	19	40608517	Missense_Mutation	SNP	C	C3N-02089_TP	1312040	40608517	18009099	953	29750											
B3GNT8	0	.	GRCh38	chr19	41426386	41426386	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgccaccacctccaggCagccactgtgggaagctccg	7	6	12	16	1	0	0	0	0	0	0	2	1	2	1	6	3	3	3	6	3	1	0	rs145254457		C3N-02089_TP	C3N-02089_NB	C	C																c.393G>T	p.=	p.L131L	ENST00000321702	3/3	165	128	37	142	142	0	strelka-varscan-mutect	B3GNT8,synonymous_variant,p.=,ENST00000321702,NM_198540.2;BCKDHA,downstream_gene_variant,,ENST00000269980,NM_001164783.1,NM_000709.3;CTC-435M10.3,downstream_gene_variant,,ENST00000540732,;BCKDHA,downstream_gene_variant,,ENST00000457836,;ATP5SL,downstream_gene_variant,,ENST00000221943,NM_018035.2;ATP5SL,downstream_gene_variant,,ENST00000592922,NM_001320840.1,NM_001167871.1;ATP5SL,downstream_gene_variant,,ENST00000438807,NM_001320841.1,NM_001167870.1;BCKDHA,downstream_gene_variant,,ENST00000542943,;BCKDHA,downstream_gene_variant,,ENST00000541315,;BCKDHA,downstream_gene_variant,,ENST00000544905,;CTC-435M10.6,downstream_gene_variant,,ENST00000598887,;B3GNT8,non_coding_transcript_exon_variant,,ENST00000601379,;B3GNT8,intron_variant,,ENST00000601616,;BCKDHA,downstream_gene_variant,,ENST00000535632,;ATP5SL,downstream_gene_variant,,ENST00000589503,;BCKDHA,downstream_gene_variant,,ENST00000538423,;BCKDHA,downstream_gene_variant,,ENST00000545787,;	A	ENST00000321702	Transcript	synonymous_variant	847/1874	393/1194	131/397	L	ctG/ctT	rs145254457	1		-1	B3GNT8	HGNC	HGNC:24139	protein_coding	YES	CCDS12582.1	ENSP00000312700	Q7Z7M8		UPI0000140C01	NM_198540.2			3/3		hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF87																	LOW	1	SNV	1			1										PASS		rs145254457	.												A	2	1	90	41426386	41426386	C	A	1	0	0	0	0	0	0	0	1	1419	697	25	2		2	B3GNT8	19	41426386	Silent	SNP	C	C3N-02089_TP	817869	41426386	17191230	954	29751											
ATP1A3	0	.	GRCh38	chr19	41968884	41968884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaagaaggccgtgtggcagGtgaactccaccaccttcctc	10	7	10	14	1	0	2	0	1	0	1	3	2	2	2	5	3	1	1	5	3	3	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2759C>A	p.Thr920Asn	p.T920N	ENST00000545399	20/23	535	421	114	377	377	0	strelka-varscan-mutect	ATP1A3,missense_variant,p.Thr920Asn,ENST00000545399,NM_001256214.1;ATP1A3,missense_variant,p.Thr907Asn,ENST00000302102,NM_152296.4;ATP1A3,missense_variant,p.Thr877Asn,ENST00000602133,;ATP1A3,missense_variant,p.Thr918Asn,ENST00000543770,NM_001256213.1;ATP1A3,missense_variant,p.Thr907Asn,ENST00000441343,;	T	ENST00000545399	Transcript	missense_variant	2943/3618	2759/3081	920/1026	T/N	aCc/aAc		1		-1	ATP1A3	HGNC	HGNC:801	protein_coding	YES	CCDS58664.1	ENSP00000444688	P13637		UPI0001914BDE	NM_001256214.1	deleterious(0.01)		20/23		Superfamily_domains:0049473,Gene3D:1.20.1110.10,Pfam_domain:PF00689,Prints_domain:PR00121,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF259,TIGRFAM_domain:TIGR01106,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	90	41968884	41968884	G	T	1	0	0	0	0	1	0	0	0	1282	1261	44	2		2	ATP1A3	19	41968884	Missense_Mutation	SNP	G	C3N-02089_TP	542498	41968884	16648732	955	29752											
ZNF574	0	.	GRCh38	chr19	42080259	42080259	+	Frame_Shift_Del	DEL	C	C	-																															cacacaggagagcggccctaCcggtgtggggactgtggcaa																								novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1654delC	p.Arg552GlyfsTer15	p.R552Gfs*15	ENST00000600245	2/2	206	171	35	212	212	0	sindel-varindel-pindel	ZNF574,frameshift_variant,p.Arg552GlyfsTer15,ENST00000600245,;ZNF574,frameshift_variant,p.Arg642GlyfsTer15,ENST00000222339,;ZNF574,frameshift_variant,p.Arg552GlyfsTer15,ENST00000359044,NM_022752.5;ZNF574,downstream_gene_variant,,ENST00000597391,;	-	ENST00000600245	Transcript	frameshift_variant	2308/3598	1653/2691	551/896	Y/X	taC/ta		1		1	ZNF574	HGNC	HGNC:26166	protein_coding	YES	CCDS12596.1	ENSP00000469029	Q6ZN55		UPI00001AE536				2/2		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF38,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	HIGH	1	deletion	2	1		1										PASS		.	.												-	7	5	90	42080259	42080259	C	-	1	0	1	0	1	0	0	0	0	18580	518	18	0		0	ZNF574	19	42080259	Frame_Shift_Del	DEL	C	C3N-02089_TP	111375	42080259	16537357	956	29753											
PRR19	0	.	GRCh38	chr19	42310677	42310677	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttccccactgcccagcctCtcctgggtagtagcccagag	6	8	9	18	0	1	1	0	0	1	1	3	1	2	1	7	1	3	2	7	1	2	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1008C>T	p.=	p.L336L	ENST00000499536	2/2	58	45	13	61	60	1	strelka-varscan-mutect	PRR19,synonymous_variant,p.=,ENST00000499536,;PRR19,synonymous_variant,p.=,ENST00000341747,NM_199285.2;PRR19,3_prime_UTR_variant,,ENST00000598490,;TMEM145,upstream_gene_variant,,ENST00000598766,;TMEM145,upstream_gene_variant,,ENST00000301204,NM_173633.2;PRR19,downstream_gene_variant,,ENST00000595750,;TMEM145,upstream_gene_variant,,ENST00000601020,;TMEM145,upstream_gene_variant,,ENST00000595775,;	T	ENST00000499536	Transcript	synonymous_variant	1819/1956	1008/1071	336/356	L	ctC/ctT		1		1	PRR19	HGNC	HGNC:33728	protein_coding	YES	CCDS33036.1	ENSP00000445247	A6NJB7		UPI000016101F				2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR37346,Pfam_domain:PF15455																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	90	42310677	42310677	C	T	1	0	0	0	0	0	0	0	1	12727	900	32	3		3	PRR19	19	42310677	Silent	SNP	C	C3N-02089_TP	230418	42310677	16306939	957	29754											
MEGF8	0	.	GRCh38	chr19	42375986	42375986	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtgacggtgacggagccGtcggcagtgctggtggtccg	5	8	18	10	6	0	2	0	2	0	0	2	3	1	3	2	5	3	2	2	5	1	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.7749G>T	p.=	p.P2583P	ENST00000251268	42/42	110	92	18	91	91	0	strelka-varscan-mutect	MEGF8,synonymous_variant,p.=,ENST00000378073,;MEGF8,synonymous_variant,p.=,ENST00000334370,NM_001410.2;MEGF8,synonymous_variant,p.=,ENST00000251268,NM_001271938.1;MEGF8,3_prime_UTR_variant,,ENST00000593647,;MEGF8,intron_variant,,ENST00000598762,;MEGF8,downstream_gene_variant,,ENST00000599787,;	T	ENST00000251268	Transcript	synonymous_variant	7749/9549	7749/8538	2583/2845	P	ccG/ccT		1		1	MEGF8	HGNC	HGNC:3233	protein_coding	YES	CCDS62693.1	ENSP00000251268	Q7Z7M0		UPI00005788D1	NM_001271938.1			42/42		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF287																	LOW	1	SNV	5			1										PASS		rs971026507	.												T	2	4	90	42375986	42375986	G	T	1	0	0	0	0	0	0	0	1	9403	1132	40	1		1	MEGF8	19	42375986	Silent	SNP	G	C3N-02089_TP	65309	42375986	16241630	958	29755											
PSG2	0	.	GRCh38	chr19	43075438	43075438	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagggtcctgcagtatactTtgtgacaccaaatagaaaga	15	10	9	7	0	0	3	0	1	0	2	1	3	1	3	2	1	2	2	2	1	6	5	rs769965176		C3N-02089_TP	C3N-02089_NB	T	T																c.625A>C	p.Lys209Gln	p.K209Q	ENST00000406487	3/6	280	234	46	246	245	1	strelka-varscan-mutect	PSG2,missense_variant,p.Lys209Gln,ENST00000406487,NM_031246.3;PSG2,upstream_gene_variant,,ENST00000329509,;CTC-490G23.6,intron_variant,,ENST00000635495,;PSG2,intron_variant,,ENST00000593482,;	G	ENST00000406487	Transcript	missense_variant	724/1538	625/1008	209/335	K/Q	Aag/Cag	rs769965176	1		-1	PSG2	HGNC	HGNC:9519	protein_coding	YES	CCDS12616.1	ENSP00000385706	P11465	A0A024R0M4	UPI000013CCF5	NM_031246.3	deleterious(0)		3/6		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF615,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs769965176	.												G	3	3	90	43075438	43075438	T	G	1	0	0	0	0	1	0	0	0	12806	1850	64	5		5	PSG2	19	43075438	Missense_Mutation	SNP	T	C3N-02089_TP	699452	43075438	15542178	959	29756											
ZNF233	0	.	GRCh38	chr19	44273173	44273173	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcaaatagcataaaaaaTcaagagcttccattgaggac	18	9	7	7	0	2	2	2	1	0	1	3	3	3	3	1	1	2	3	1	1	6	5			C3N-02089_TP	C3N-02089_NB	T	T																c.513T>A	p.Asn171Lys	p.N171K	ENST00000391958	5/5	284	226	58	293	292	1	strelka-varscan-mutect	ZNF233,missense_variant,p.Asn171Lys,ENST00000391958,NM_001207005.1,NM_181756.2;ZNF233,3_prime_UTR_variant,,ENST00000592581,;ZNF235,intron_variant,,ENST00000589799,;ZNF233,downstream_gene_variant,,ENST00000589522,;ZNF233,downstream_gene_variant,,ENST00000590668,;ZNF235,downstream_gene_variant,,ENST00000589248,;ZNF235,intron_variant,,ENST00000592844,;	A	ENST00000391958	Transcript	missense_variant	640/2784	513/2013	171/670	N/K	aaT/aaA	COSM3535491	1		1	ZNF233	HGNC	HGNC:30946	protein_coding	YES	CCDS33047.1	ENSP00000375820	A6NK53		UPI000049DEBE	NM_001207005.1,NM_181756.2	deleterious(0.04)		5/5													1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	90	44273173	44273173	T	A	1	0	0	0	0	1	0	0	0	18363	1432	50	4		4	ZNF233	19	44273173	Missense_Mutation	SNP	T	C3N-02089_TP	1197735	44273173	14344443	960	29757											
CLPTM1	0	.	GRCh38	chr19	44987283	44987283	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaacgagagcctggccAgcctgccgctccgcgtctcc	6	6	10	19	4	2	1	1	0	1	1	4	2	3	1	7	1	4	1	7	1	1	0	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.898A>T	p.Ser300Cys	p.S300C	ENST00000337392	8/14	338	310	28	255	255	0	strelka-varscan-mutect	CLPTM1,missense_variant,p.Ser286Cys,ENST00000541297,NM_001282175.1;CLPTM1,missense_variant,p.Ser300Cys,ENST00000337392,NM_001294.3;CLPTM1,missense_variant,p.Ser198Cys,ENST00000546079,NM_001282176.1;CLPTM1,upstream_gene_variant,,ENST00000586915,;CLPTM1,downstream_gene_variant,,ENST00000591304,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000589158,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000588855,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000588274,;CLPTM1,downstream_gene_variant,,ENST00000587537,;CLPTM1,upstream_gene_variant,,ENST00000586975,;CLPTM1,upstream_gene_variant,,ENST00000589347,;	T	ENST00000337392	Transcript	missense_variant	1048/2604	898/2010	300/669	S/C	Agc/Tgc		1		1	CLPTM1	HGNC	HGNC:2087	protein_coding	YES	CCDS12651.1	ENSP00000336994	O96005	A0A0S2Z3H2	UPI0000072CBA	NM_001294.3	deleterious(0.04)		8/14		Pfam_domain:PF05602,hmmpanther:PTHR21347,hmmpanther:PTHR21347:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	44987283	44987283	A	T	1	0	0	0	0	1	0	0	0	3326	188	7	4		4	CLPTM1	19	44987283	Missense_Mutation	SNP	A	C3N-02089_TP	714110	44987283	13630333	961	29758											
SYMPK	0	.	GRCh38	chr19	45816885	45816885	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggctcccagctgctggggCggcagctgcaggatgacctg	6	6	16	13	2	0	1	0	1	0	0	1	2	1	2	2	5	4	6	2	5	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.3171G>T	p.=	p.P1057P	ENST00000245934	24/27	164	137	27	117	116	1	strelka-varscan-mutect	SYMPK,synonymous_variant,p.=,ENST00000245934,NM_004819.2;SYMPK,downstream_gene_variant,,ENST00000599814,;SYMPK,downstream_gene_variant,,ENST00000599460,;RSPH6A,upstream_gene_variant,,ENST00000221538,NM_030785.3;RSPH6A,upstream_gene_variant,,ENST00000597055,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598155,;SYMPK,synonymous_variant,p.=,ENST00000596824,;SYMPK,3_prime_UTR_variant,,ENST00000600237,;SYMPK,non_coding_transcript_exon_variant,,ENST00000593504,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598329,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598364,;	A	ENST00000245934	Transcript	synonymous_variant	3416/4195	3171/3825	1057/1274	P	ccG/ccT		1		-1	SYMPK	HGNC	HGNC:22935	protein_coding	YES	CCDS12676.2	ENSP00000245934	Q92797	A0A024R0R6	UPI00002026C0	NM_004819.2			24/27		hmmpanther:PTHR15245:SF20,hmmpanther:PTHR15245,Pfam_domain:PF12295																	LOW	1	SNV	1			1										PASS		rs1285088024	.												A	2	1	90	45816885	45816885	C	A	1	0	0	0	0	0	0	0	1	15829	755	27	1		1	SYMPK	19	45816885	Silent	SNP	C	C3N-02089_TP	829602	45816885	12800731	962	29759											
SLC8A2	0	.	GRCh38	chr19	47447854	47447854	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctccgcacgcgtcctcgTagtgcacgccgccgccgcgc	3	6	12	20	9	1	0	0	0	1	0	4	0	2	0	5	0	1	4	5	0	1	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1718A>T	p.Tyr573Phe	p.Y573F	ENST00000236877	4/10	240	195	45	196	196	0	strelka-varscan-mutect	SLC8A2,missense_variant,p.Tyr573Phe,ENST00000236877,NM_015063.2;SLC8A2,missense_variant,p.Tyr329Phe,ENST00000542837,;SLC8A2,non_coding_transcript_exon_variant,,ENST00000539381,;SLC8A2,upstream_gene_variant,,ENST00000601757,;	A	ENST00000236877	Transcript	missense_variant	2114/5234	1718/2766	573/921	Y/F	tAc/tTc		1		-1	SLC8A2	HGNC	HGNC:11069	protein_coding	YES	CCDS33065.1	ENSP00000236877	Q9UPR5		UPI000012FC49	NM_015063.2	tolerated(0.52)		4/10		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF8,Pfam_domain:PF03160,TIGRFAM_domain:TIGR00845,SMART_domains:SM00237,Superfamily_domains:SSF141072																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	47447854	47447854	T	A	1	0	0	0	0	1	0	0	0	14990	1638	57	4		4	SLC8A2	19	47447854	Missense_Mutation	SNP	T	C3N-02089_TP	1630969	47447854	11169762	963	29760											
ZNF541	0	.	GRCh38	chr19	47521959	47521959	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttttttccagatgtaataAtactcaacgcactgagctac	13	14	5	9	1	1	2	1	1	0	1	2	2	2	2	1	0	4	3	1	0	5	7	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.3606T>G	p.Tyr1202Ter	p.Y1202*	ENST00000391901	13/15	251	218	33	194	194	0	strelka-varscan-mutect	ZNF541,stop_gained,p.Tyr1221Ter,ENST00000314121,;ZNF541,stop_gained,p.Tyr1202Ter,ENST00000391901,NM_001277075.1;ZNF541,stop_gained,p.Tyr722Ter,ENST00000595558,;ZNF541,stop_gained,p.Tyr535Ter,ENST00000263351,;	C	ENST00000391901	Transcript	stop_gained	3606/4580	3606/4041	1202/1346	Y/*	taT/taG		1		-1	ZNF541	HGNC	HGNC:25294	protein_coding	YES	CCDS46133.2	ENSP00000375770	Q9H0D2		UPI0000E5A21D	NM_001277075.1			13/15		PROSITE_profiles:PS51293,hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF23,SMART_domains:SM00717,Superfamily_domains:SSF46689																	HIGH	1	SNV	5			1										PASS		.	.												C	4	2	90	47521959	47521959	A	C	1	0	0	0	0	0	1	0	0	18549	108	4	5		5	ZNF541	19	47521959	Nonsense_Mutation	SNP	A	C3N-02089_TP	74105	47521959	11095657	964	29761											
LIG1	0	.	GRCh38	chr19	48137072	48137072	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgatgatgtctatctTcttggctgtggactggagag	6	15	13	7	0	3	3	0	2	3	1	3	5	3	4	1	3	0	1	1	3	1	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1267A>T	p.Lys423Ter	p.K423*	ENST00000263274	14/28	284	253	31	271	271	0	strelka-mutect	LIG1,stop_gained,p.Lys423Ter,ENST00000613670,;LIG1,stop_gained,p.Lys423Ter,ENST00000263274,NM_001320970.1,NM_000234.2;LIG1,stop_gained,p.Lys355Ter,ENST00000536218,NM_001289064.1;LIG1,stop_gained,p.Lys392Ter,ENST00000427526,NM_001320971.1,NM_001289063.1;LIG1,stop_gained,p.Lys422Ter,ENST00000594759,;LIG1,stop_gained,p.Lys423Ter,ENST00000601091,;LIG1,missense_variant,p.Arg414Ser,ENST00000542460,;LIG1,non_coding_transcript_exon_variant,,ENST00000594067,;LIG1,non_coding_transcript_exon_variant,,ENST00000597901,;LIG1,upstream_gene_variant,,ENST00000596457,;LIG1,upstream_gene_variant,,ENST00000596672,;	A	ENST00000263274	Transcript	stop_gained	1687/3384	1267/2760	423/919	K/*	Aag/Tag		1		-1	LIG1	HGNC	HGNC:6598	protein_coding	YES	CCDS12711.1	ENSP00000263274	P18858		UPI0000129656	NM_001320970.1,NM_000234.2			14/28		hmmpanther:PTHR10459,Pfam_domain:PF04675,TIGRFAM_domain:TIGR00574,Gene3D:1x9nA01,Superfamily_domains:0050884																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	90	48137072	48137072	T	A	1	0	0	0	0	0	1	0	0	8690	1792	62	4		4	LIG1	19	48137072	Nonsense_Mutation	SNP	T	C3N-02089_TP	615113	48137072	10480544	965	29762											
PPP1R15A	0	.	GRCh38	chr19	48874287	48874287	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccaggagaggacacagagGaagaggaagatgaggaagaa	18	1	18	4	0	0	6	0	1	0	5	0	11	0	10	1	6	0	0	1	6	4	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1054G>T	p.Glu352Ter	p.E352*	ENST00000200453	2/3	195	159	36	176	176	0	strelka-varscan-mutect	PPP1R15A,stop_gained,p.Glu352Ter,ENST00000200453,NM_014330.3;PPP1R15A,upstream_gene_variant,,ENST00000600406,;	T	ENST00000200453	Transcript	stop_gained	1323/2378	1054/2025	352/674	E/*	Gaa/Taa		1		1	PPP1R15A	HGNC	HGNC:14375	protein_coding	YES	CCDS12738.1	ENSP00000200453	O75807		UPI000006F652	NM_014330.3			2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR16489,hmmpanther:PTHR16489:SF14																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	90	48874287	48874287	G	T	1	0	0	0	0	0	1	0	0	12473	1175	41	2		2	PPP1R15A	19	48874287	Nonsense_Mutation	SNP	G	C3N-02089_TP	737215	48874287	9743329	966	29763											
GYS1	0	.	GRCh38	chr19	48982783	48982783	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagcatggaggttctggAactcatgcatggcagaaaac	12	9	12	8	0	3	2	1	1	2	1	3	4	3	4	0	4	4	4	0	4	3	1	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.878T>C	p.Phe293Ser	p.F293S	ENST00000323798	6/16	436	408	28	365	364	1	strelka-varscan-mutect	GYS1,missense_variant,p.Phe293Ser,ENST00000323798,NM_002103.4;GYS1,missense_variant,p.Phe229Ser,ENST00000263276,NM_001161587.1;GYS1,downstream_gene_variant,,ENST00000457974,;GYS1,non_coding_transcript_exon_variant,,ENST00000484289,;GYS1,upstream_gene_variant,,ENST00000472004,;GYS1,upstream_gene_variant,,ENST00000496048,;	G	ENST00000323798	Transcript	missense_variant	1075/3574	878/2214	293/737	F/S	tTc/tCc		1		-1	GYS1	HGNC	HGNC:4706	protein_coding	YES	CCDS12747.1	ENSP00000317904	P13807		UPI0000000C44	NM_002103.4	deleterious(0)		6/16		Pfam_domain:PF05693,hmmpanther:PTHR10176,hmmpanther:PTHR10176:SF2,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	48982783	48982783	A	G	1	0	0	0	0	1	0	0	0	6794	246	9	5		5	GYS1	19	48982783	Missense_Mutation	SNP	A	C3N-02089_TP	108496	48982783	9634833	967	29764											
PRR12	0	.	GRCh38	chr19	49595242	49595242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtgcccagcccccaccaCccccgccaccagcccatgcg	7	2	7	25	2	0	0	0	0	0	0	0	0	0	0	10	0	4	0	10	0	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.907C>A	p.Pro303Thr	p.P303T	ENST00000418929	4/14	274	253	21	233	233	0	strelka-varscan-mutect	PRR12,missense_variant,p.Pro303Thr,ENST00000418929,NM_020719.1;PRR12,upstream_gene_variant,,ENST00000615927,;PRRG2,downstream_gene_variant,,ENST00000246794,NM_000951.2;NOSIP,upstream_gene_variant,,ENST00000599537,;PRRG2,downstream_gene_variant,,ENST00000596700,;PRRG2,downstream_gene_variant,,ENST00000543867,;PRRG2,downstream_gene_variant,,ENST00000597121,NM_001316335.1;	A	ENST00000418929	Transcript	missense_variant	919/6955	907/6111	303/2036	P/T	Ccc/Acc		1		1	PRR12	HGNC	HGNC:29217	protein_coding	YES	CCDS46143.1	ENSP00000394510	Q9ULL5		UPI0001596889	NM_020719.1	tolerated(0.32)		4/14		hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF1,Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	90	49595242	49595242	C	A	1	0	0	0	0	1	0	0	0	12719	507	18	2		2	PRR12	19	49595242	Missense_Mutation	SNP	C	C3N-02089_TP	612459	49595242	9022374	968	29765											
PRR12	0	.	GRCh38	chr19	49595384	49595384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggagcctagcaaggctgGtcccagcggagccacggctg	7	5	17	12	2	0	0	0	0	0	0	1	2	1	2	3	6	4	3	3	6	2	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1049G>T	p.Gly350Val	p.G350V	ENST00000418929	4/14	113	92	21	113	113	0	strelka-varscan-mutect	PRR12,missense_variant,p.Gly350Val,ENST00000418929,NM_020719.1;PRR12,upstream_gene_variant,,ENST00000615927,;PRRG2,downstream_gene_variant,,ENST00000246794,NM_000951.2;PRRG2,downstream_gene_variant,,ENST00000596700,;PRRG2,downstream_gene_variant,,ENST00000543867,;PRRG2,downstream_gene_variant,,ENST00000597121,NM_001316335.1;	T	ENST00000418929	Transcript	missense_variant	1061/6955	1049/6111	350/2036	G/V	gGt/gTt		1		1	PRR12	HGNC	HGNC:29217	protein_coding	YES	CCDS46143.1	ENSP00000394510	Q9ULL5		UPI0001596889	NM_020719.1	deleterious(0.01)		4/14		hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF1,Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	90	49595384	49595384	G	T	1	0	0	0	0	1	0	0	0	12719	1261	44	2		2	PRR12	19	49595384	Missense_Mutation	SNP	G	C3N-02089_TP	142	49595384	9022232	969	29766											
SYT3	0	.	GRCh38	chr19	50630166	50630166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggggtcggggcagggctGggtacctgtagggggttggg	4	8	24	5	1	0	1	0	1	0	0	1	1	0	1	1	9	1	5	1	9	2	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.680C>A	p.Pro227Gln	p.P227Q	ENST00000338916	3/9	31	27	4	30	30	0	strelka-varscan-mutect	SYT3,missense_variant,p.Pro227Gln,ENST00000338916,NM_032298.2;SYT3,missense_variant,p.Pro227Gln,ENST00000593901,NM_001160328.1;SYT3,missense_variant,p.Pro227Gln,ENST00000600079,NM_001160329.1;SYT3,downstream_gene_variant,,ENST00000598997,;SYT3,upstream_gene_variant,,ENST00000595117,;SYT3,upstream_gene_variant,,ENST00000595557,;	T	ENST00000338916	Transcript	missense_variant	1314/2915	680/1773	227/590	P/Q	cCa/cAa		1		-1	SYT3	HGNC	HGNC:11511	protein_coding	YES	CCDS12798.1	ENSP00000340914	Q9BQG1	A0A024R4I9	UPI0000047AEB	NM_032298.2	tolerated(0.1)		3/9		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF176																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	50630166	50630166	G	T	1	0	0	0	0	1	0	0	0	15869	1362	47	2		2	SYT3	19	50630166	Missense_Mutation	SNP	G	C3N-02089_TP	1034782	50630166	7987450	970	29767											
KLK5	0	.	GRCh38	chr19	50943697	50943697	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggttcgtgtagacaccCggtctgttgggccgggcaca	7	8	15	11	3	1	2	0	0	1	2	2	2	1	2	2	4	0	4	2	4	1	3	rs377276035		C3N-02089_TP	C3N-02089_NB	C	C																c.816G>C	p.=	p.P272P	ENST00000336334	6/6	128	104	24	146	146	0	strelka-varscan-mutect	KLK5,synonymous_variant,p.=,ENST00000336334,NM_012427.4;KLK5,synonymous_variant,p.=,ENST00000391809,NM_001077491.1;KLK5,synonymous_variant,p.=,ENST00000593428,NM_001077492.1;KLK5,non_coding_transcript_exon_variant,,ENST00000595585,;	G	ENST00000336334	Transcript	synonymous_variant	1169/1563	816/882	272/293	P	ccG/ccC	rs377276035	1		-1	KLK5	HGNC	HGNC:6366	protein_coding	YES	CCDS12810.1	ENSP00000337733	Q9Y337	A0A024R4G4	UPI000003751F	NM_012427.4			6/6		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF270,SMART_domains:SM00020,Superfamily_domains:SSF50494																	LOW	1	SNV	1			1										PASS		rs377276035	.												G	2	3	90	50943697	50943697	C	G	1	0	0	0	0	0	0	0	1	8276	639	23	4		4	KLK5	19	50943697	Silent	SNP	C	C3N-02089_TP	313531	50943697	7673919	971	29768											
CTU1	0	.	GRCh38	chr19	51104094	51104094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggctcccacgcggcgcGccccttcctccagcgcccgg	2	5	13	21	7	0	0	0	0	0	0	3	0	3	0	6	3	1	1	6	3	0	1			C3N-02089_TP	C3N-02089_NB	G	G																c.476C>T	p.Ala159Val	p.A159V	ENST00000421832	2/3	69	58	11	65	65	0	strelka-varscan-mutect	CTU1,missense_variant,p.Ala159Val,ENST00000421832,NM_145232.3;	A	ENST00000421832	Transcript	missense_variant	521/2087	476/1047	159/348	A/V	gCg/gTg	COSM2755761	1		-1	CTU1	HGNC	HGNC:29590	protein_coding	YES	CCDS12824.1	ENSP00000390011	Q7Z7A3		UPI000013D897	NM_145232.3	deleterious(0)		2/3		Low_complexity_(Seg):seg,HAMAP:MF_03053,hmmpanther:PTHR11807,hmmpanther:PTHR11807:SF12,PIRSF_domain:PIRSF004976,Pfam_domain:PF01171,Gene3D:3.40.50.620,Superfamily_domains:SSF52402											1						MODERATE	1	SNV	2		1	1										PASS		rs1169810550	.												A	3	1	90	51104094	51104094	G	A	1	0	0	0	0	1	0	0	0	3856	1087	38	1		1	CTU1	19	51104094	Missense_Mutation	SNP	G	C3N-02089_TP	160397	51104094	7513522	972	29769											
VSIG10L	0	.	GRCh38	chr19	51341458	51341458	+	Frame_Shift_Del	DEL	C	C	-																															ccaccagcacagcgagtgggCcccccacctgctggggaaag																								novel		C3N-02089_TP	C3N-02089_NB	C	C																c.590delG	p.Gly197AlafsTer15	p.G197Afs*15	ENST00000335624	2/10	51	40	11	64	64	0	sindel-varindel-pindel	VSIG10L,frameshift_variant,p.Gly197AlafsTer15,ENST00000335624,NM_001163922.1;ETFB,downstream_gene_variant,,ENST00000354232,NM_001014763.1;ETFB,downstream_gene_variant,,ENST00000309244,NM_001985.2;ETFB,downstream_gene_variant,,ENST00000596253,;CTD-2616J11.16,intron_variant,,ENST00000601148,;CTD-2616J11.16,intron_variant,,ENST00000594311,;CTD-2616J11.9,upstream_gene_variant,,ENST00000600974,;ETFB,downstream_gene_variant,,ENST00000594361,;VSIG10L,upstream_gene_variant,,ENST00000600663,;	-	ENST00000335624	Transcript	frameshift_variant	590/3397	590/2604	197/867	G/X	gGc/gc		1		-1	VSIG10L	HGNC	HGNC:27111	protein_coding	YES	CCDS54300.1	ENSP00000335623	Q86VR7		UPI00001D8188	NM_001163922.1			2/10		Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF694,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH		deletion	5			1										PASS		.	.												-	7	5	90	51341458	51341458	C	-	1	0	1	0	1	0	0	0	0	17774	739	26	0		0	VSIG10L	19	51341458	Frame_Shift_Del	DEL	C	C3N-02089_TP	237364	51341458	7276158	973	29770											
VSIG10L	0	.	GRCh38	chr19	51341910	51341910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttccacacccagcccCtgggaagagctctttgagtc	9	8	10	14	0	1	2	0	1	1	1	3	4	2	4	4	2	3	1	4	2	2	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.138G>T	p.Gln46His	p.Q46H	ENST00000335624	2/10	220	173	47	222	222	0	strelka-varscan-mutect	VSIG10L,missense_variant,p.Gln46His,ENST00000335624,NM_001163922.1;ETFB,downstream_gene_variant,,ENST00000354232,NM_001014763.1;ETFB,downstream_gene_variant,,ENST00000309244,NM_001985.2;ETFB,downstream_gene_variant,,ENST00000596253,;CTD-2616J11.16,non_coding_transcript_exon_variant,,ENST00000601148,;CTD-2616J11.16,non_coding_transcript_exon_variant,,ENST00000594311,;CTD-2616J11.9,upstream_gene_variant,,ENST00000600974,;ETFB,downstream_gene_variant,,ENST00000594361,;VSIG10L,upstream_gene_variant,,ENST00000600663,;	A	ENST00000335624	Transcript	missense_variant	138/3397	138/2604	46/867	Q/H	caG/caT		1		-1	VSIG10L	HGNC	HGNC:27111	protein_coding	YES	CCDS54300.1	ENSP00000335623	Q86VR7		UPI00001D8188	NM_001163922.1	deleterious_low_confidence(0.02)		2/10																			MODERATE		SNV	5			1										PASS		.	.												A	3	1	90	51341910	51341910	C	A	1	0	0	0	0	1	0	0	0	17774	680	24	2		2	VSIG10L	19	51341910	Missense_Mutation	SNP	C	C3N-02089_TP	452	51341910	7275706	974	29771											
SIGLEC8	0	.	GRCh38	chr19	51454689	51454689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcaatgctcacatgatGaagatgatgcagaaggacag	15	7	13	6	0	2	5	2	3	0	2	2	6	2	6	0	2	2	2	0	2	3	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1143C>A	p.Phe381Leu	p.F381L	ENST00000321424	5/7	160	134	26	136	136	0	strelka-varscan-mutect	SIGLEC8,missense_variant,p.Phe381Leu,ENST00000321424,NM_014442.2;SIGLEC8,missense_variant,p.Phe272Leu,ENST00000430817,;SIGLEC8,missense_variant,p.Phe288Leu,ENST00000340550,;SIGLEC8,downstream_gene_variant,,ENST00000597352,;	T	ENST00000321424	Transcript	missense_variant	1210/2949	1143/1500	381/499	F/L	ttC/ttA		1		-1	SIGLEC8	HGNC	HGNC:10877	protein_coding	YES	CCDS33086.1	ENSP00000321077	Q9NYZ4		UPI000013598B	NM_014442.2	tolerated(0.45)		5/7		Transmembrane_helices:TMhelix,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36																	MODERATE	1	SNV	1			1										PASS		rs1416773650	.												T	3	4	90	51454689	51454689	G	T	1	0	0	0	0	1	0	0	0	14578	1304	45	2		2	SIGLEC8	19	51454689	Missense_Mutation	SNP	G	C3N-02089_TP	112779	51454689	7162927	975	29772											
SIGLEC6	0	.	GRCh38	chr19	51530785	51530785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggccgtggggtgattGtgagcaccgaggactgggtg	5	8	20	8	2	0	2	0	2	0	0	0	4	0	3	3	6	1	1	3	6	0	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.602C>T	p.Thr201Ile	p.T201I	ENST00000425629	3/8	277	211	66	218	218	0	strelka-varscan-mutect	SIGLEC6,missense_variant,p.Thr201Ile,ENST00000346477,NM_198845.4;SIGLEC6,missense_variant,p.Thr201Ile,ENST00000425629,NM_001245.5;SIGLEC6,missense_variant,p.Thr201Ile,ENST00000359982,NM_001177548.1;SIGLEC6,missense_variant,p.Thr201Ile,ENST00000343300,NM_198846.4;SIGLEC6,missense_variant,p.Thr165Ile,ENST00000436458,NM_001177547.1;SIGLEC6,missense_variant,p.Thr190Ile,ENST00000391797,NM_001177549.1;SIGLEC6,upstream_gene_variant,,ENST00000474054,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000496422,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000489837,;	A	ENST00000425629	Transcript	missense_variant	757/1852	602/1362	201/453	T/I	aCa/aTa		1		-1	SIGLEC6	HGNC	HGNC:10875	protein_coding	YES	CCDS12834.3	ENSP00000401502	O43699	A0A024R4K4	UPI0000223FFD	NM_001245.5	deleterious(0.02)		3/8		Gene3D:2.60.40.10,Pfam_domain:PF00047,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF52,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	90	51530785	51530785	G	A	1	0	0	0	0	1	0	0	0	14576	1377	48	3		3	SIGLEC6	19	51530785	Missense_Mutation	SNP	G	C3N-02089_TP	76096	51530785	7086831	976	29773											
ZNF841	0	.	GRCh38	chr19	52066525	52066525	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgtaaggtgtctctcCagtatgaattatctggtgcc	9	15	9	8	0	2	1	0	1	2	0	4	1	3	1	2	2	1	2	2	2	4	4	rs752275004		C3N-02089_TP	C3N-02089_NB	C	C																c.1357G>T	p.Gly453Ter	p.G453*	ENST00000594295	6/6	171	136	35	206	205	1	strelka-varscan-mutect	ZNF841,stop_gained,p.Gly453Ter,ENST00000594295,NM_001136499.1;ZNF841,stop_gained,p.Gly337Ter,ENST00000426391,NM_001321349.1;ZNF841,stop_gained,p.Gly453Ter,ENST00000389534,;ZNF841,stop_gained,p.Gly349Ter,ENST00000601738,;ZNF432,upstream_gene_variant,,ENST00000600368,;CTC-471J1.2,upstream_gene_variant,,ENST00000569091,;ZNF432,intron_variant,,ENST00000598446,;ZNF841,downstream_gene_variant,,ENST00000595599,;	A	ENST00000594295	Transcript	stop_gained	1760/3819	1357/2775	453/924	G/*	Gga/Tga	rs752275004	1		-1	ZNF841	HGNC	HGNC:27611	protein_coding	YES	CCDS46161.1	ENSP00000470746	Q6ZN19		UPI00001D818B	NM_001136499.1			6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF75,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	HIGH		SNV	3			1										PASS		rs752275004	.												A	4	1	90	52066525	52066525	C	A	1	0	0	0	0	0	1	0	0	18776	603	21	2		2	ZNF841	19	52066525	Nonsense_Mutation	SNP	C	C3N-02089_TP	535740	52066525	6551091	977	29774											
ZNF841	0	.	GRCh38	chr19	52066673	52066673	+	Missense_Mutation	SNP	A	A	C																															aaggttttgccacattcattAcatttgtagggtttgtctcc																								novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1209T>G	p.Cys403Trp	p.C403W	ENST00000594295	6/6	192	147	45	224	224	0	strelka-mutect	ZNF841,missense_variant,p.Cys403Trp,ENST00000594295,NM_001136499.1;ZNF841,missense_variant,p.Cys287Trp,ENST00000426391,NM_001321349.1;ZNF841,missense_variant,p.Cys403Trp,ENST00000389534,;ZNF841,missense_variant,p.Cys299Trp,ENST00000601738,;ZNF432,upstream_gene_variant,,ENST00000600368,;CTC-471J1.2,upstream_gene_variant,,ENST00000569091,;ZNF432,intron_variant,,ENST00000598446,;ZNF841,downstream_gene_variant,,ENST00000595599,;	C	ENST00000594295	Transcript	missense_variant	1612/3819	1209/2775	403/924	C/W	tgT/tgG		1		-1	ZNF841	HGNC	HGNC:27611	protein_coding	YES	CCDS46161.1	ENSP00000470746	Q6ZN19		UPI00001D818B	NM_001136499.1	deleterious(0)		6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF75,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE		SNV	3			1										PASS		.	.												C	3	2	90	52066673	52066673	A	C	1	0	0	0	0	1	0	0	0	18776	389	14	5		5	ZNF841	19	52066673	Missense_Mutation	SNP	A	C3N-02089_TP	148	52066673	6550943	978	29775	620	2									
ZNF841	0	.	GRCh38	chr19	52066676	52066676	+	Frame_Shift_Del	DEL	T	T	-																															gttttgccacattcattacaTttgtagggtttgtctccagt																								novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1206delA	p.Lys402AsnfsTer20	p.K402Nfs*20	ENST00000594295	6/6	169	134	35	215	215	0	sindel-varindel	ZNF841,frameshift_variant,p.Lys402AsnfsTer20,ENST00000594295,NM_001136499.1;ZNF841,frameshift_variant,p.Lys286AsnfsTer20,ENST00000426391,NM_001321349.1;ZNF841,frameshift_variant,p.Lys402AsnfsTer20,ENST00000389534,;ZNF841,frameshift_variant,p.Lys298AsnfsTer20,ENST00000601738,;ZNF432,upstream_gene_variant,,ENST00000600368,;CTC-471J1.2,upstream_gene_variant,,ENST00000569091,;ZNF432,intron_variant,,ENST00000598446,;ZNF841,downstream_gene_variant,,ENST00000595599,;	-	ENST00000594295	Transcript	frameshift_variant	1609/3819	1206/2775	402/924	K/X	aaA/aa		1		-1	ZNF841	HGNC	HGNC:27611	protein_coding	YES	CCDS46161.1	ENSP00000470746	Q6ZN19		UPI00001D818B	NM_001136499.1			6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF75,hmmpanther:PTHR24377,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH		deletion	3			1										PASS		.	.												-	7	5	90	52066676	52066676	T	-	1	0	1	0	1	0	0	0	0	18776	1490	52	0		0	ZNF841	19	52066676	Frame_Shift_Del	DEL	T	C3N-02089_TP	3	52066676	6550940	979	29776	620	2									
ZNF528	0	.	GRCh38	chr19	52405975	52405975	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaatgcctggaccctgcGcagaggactttatacaggga	11	8	13	9	1	0	1	0	0	0	1	0	5	0	5	2	4	3	1	2	4	3	3	rs373691668		C3N-02089_TP	C3N-02089_NB	G	G																c.84G>T	p.=	p.A28A	ENST00000360465	5/7	223	162	61	229	229	0	strelka-varscan-mutect	ZNF528,synonymous_variant,p.=,ENST00000391788,;ZNF528,synonymous_variant,p.=,ENST00000360465,NM_032423.2;ZNF528,synonymous_variant,p.=,ENST00000598192,;ZNF528,synonymous_variant,p.=,ENST00000391787,;ZNF528,synonymous_variant,p.=,ENST00000594530,;ZNF528,downstream_gene_variant,,ENST00000493272,;ZNF528,downstream_gene_variant,,ENST00000494167,;ZNF528,upstream_gene_variant,,ENST00000448954,;ZNF528,downstream_gene_variant,,ENST00000436397,;ZNF528,downstream_gene_variant,,ENST00000531472,;	T	ENST00000360465	Transcript	synonymous_variant	510/3978	84/1887	28/628	A	gcG/gcT	rs373691668	1		1	ZNF528	HGNC	HGNC:29384	protein_coding	YES	CCDS33091.1	ENSP00000353652	Q3MIS6		UPI00001B6535	NM_032423.2			5/7		PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF143,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637																	LOW	1	SNV	1			1										PASS		rs373691668	.												T	2	4	90	52405975	52405975	G	T	1	0	0	0	0	0	0	0	1	18542	1074	38	1		1	ZNF528	19	52405975	Silent	SNP	G	C3N-02089_TP	339299	52405975	6211641	980	29777											
VN1R4	0	.	GRCh38	chr19	53267317	53267317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctttctctttaagttttgCccacctggatttcctggagc	5	16	9	11	0	1	0	0	0	1	0	3	2	2	2	3	3	2	2	3	3	1	6	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.349G>T	p.Ala117Ser	p.A117S	ENST00000311170	1/1	173	145	28	152	152	0	strelka-varscan-mutect	VN1R4,missense_variant,p.Ala117Ser,ENST00000311170,NM_173857.2;CTD-2245F17.9,downstream_gene_variant,,ENST00000599803,;	A	ENST00000311170	Transcript	missense_variant	407/1048	349/906	117/301	A/S	Gca/Tca		1		-1	VN1R4	HGNC	HGNC:19871	protein_coding	YES	CCDS33099.1	ENSP00000310856	Q7Z5H5		UPI000004B23A	NM_173857.2	tolerated(0.05)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF03402,Prints_domain:PR01534,PROSITE_profiles:PS50262,hmmpanther:PTHR24062,hmmpanther:PTHR24062:SF80,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		.	.												A	3	1	90	53267317	53267317	C	A	1	0	0	0	0	1	0	0	0	17728	739	26	2		2	VN1R4	19	53267317	Missense_Mutation	SNP	C	C3N-02089_TP	861342	53267317	5350299	981	29778											
NLRP12	0	.	GRCh38	chr19	53810479	53810479	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtgaagagaggctcgtTgtccctcacgtaattgaaga	11	10	12	8	2	1	4	1	2	0	2	3	5	2	4	1	2	0	3	1	2	3	3	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1180A>C	p.Asn394His	p.N394H	ENST00000391773	3/10	790	640	150	701	701	0	strelka-varscan-mutect	NLRP12,missense_variant,p.Asn394His,ENST00000324134,NM_144687.3;NLRP12,missense_variant,p.Asn394His,ENST00000391773,NM_001277126.1;NLRP12,missense_variant,p.Asn394His,ENST00000345770,;NLRP12,missense_variant,p.Asn394His,ENST00000391775,NM_001277129.1;NLRP12,missense_variant,p.Asn394His,ENST00000391772,;NLRP12,upstream_gene_variant,,ENST00000492915,;	G	ENST00000391773	Transcript	missense_variant	1400/3715	1180/3189	394/1062	N/H	Aac/Cac		1		-1	NLRP12	HGNC	HGNC:22938	protein_coding	YES	CCDS62785.1	ENSP00000375653	P59046		UPI0000132BB3	NM_001277126.1	deleterious(0.01)		3/10		PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF117																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	53810479	53810479	T	G	1	0	0	0	0	1	0	0	0	10511	1812	63	5		5	NLRP12	19	53810479	Missense_Mutation	SNP	T	C3N-02089_TP	543162	53810479	4807137	982	29779											
LILRA6	0	.	GRCh38	chr19	54240861	54240861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgttcagggggtcgctggGggccgaccactcggaggaga	7	6	19	9	3	1	1	1	0	0	1	3	5	1	2	2	6	0	2	2	6	0	1	rs199988938		C3N-02089_TP	C3N-02089_NB	G	G																c.925C>A	p.Pro309Thr	p.P309T	ENST00000396365	5/8	472	417	55	379	379	0	strelka-varscan-mutect	LILRA6,missense_variant,p.Pro309Thr,ENST00000396365,NM_024318.3;LILRA6,missense_variant,p.Pro309Thr,ENST00000245621,;LILRA6,3_prime_UTR_variant,,ENST00000430421,;RPS9,intron_variant,,ENST00000448962,;LILRA6,downstream_gene_variant,,ENST00000270464,;	T	ENST00000396365	Transcript	missense_variant	965/1890	925/1446	309/481	P/T	Ccc/Acc	rs199988938	1		-1	LILRA6	HGNC	HGNC:15495	protein_coding	YES	CCDS42610.1	ENSP00000379651	Q6PI73	U5XH19	UPI000292EF7A	NM_024318.3	deleterious(0)		5/8		Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF116,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs199988938	.												T	3	4	90	54240861	54240861	G	T	1	0	0	0	0	1	0	0	0	8697	1232	43	2		2	LILRA6	19	54240861	Missense_Mutation	SNP	G	C3N-02089_TP	430382	54240861	4376755	983	29780											
LILRB2	0	.	GRCh38	chr19	54279619	54279619	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcaccacagggctgggctgGgctgagagggtgggttttgg	5	9	20	7	0	1	1	1	1	0	1	1	2	1	1	1	6	0	4	1	6	0	2	rs762601346		C3N-02089_TP	C3N-02089_NB	G	G																c.384C>A	p.=	p.A128A	ENST00000391749	5/14	160	124	36	161	161	0	varscan-mutect	LILRB2,synonymous_variant,p.=,ENST00000391748,NM_001278403.2;LILRB2,synonymous_variant,p.=,ENST00000434421,NM_001278404.2;LILRB2,synonymous_variant,p.=,ENST00000314446,NM_001080978.3;LILRB2,synonymous_variant,p.=,ENST00000391749,NM_005874.4;LILRB2,synonymous_variant,p.=,ENST00000391746,NM_001278405.2;MIR4752,upstream_gene_variant,,ENST00000579672,;LILRB2,downstream_gene_variant,,ENST00000471216,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;LILRB2,upstream_gene_variant,,ENST00000455108,;	T	ENST00000391749	Transcript	synonymous_variant	656/2286	384/1797	128/598	A	gcC/gcA	rs762601346	1		-1	LILRB2	HGNC	HGNC:6606	protein_coding	YES	CCDS12886.1	ENSP00000375629	Q8N423		UPI00034F23A2	NM_005874.4			5/14		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF117,Gene3D:2.60.40.10,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		rs762601346	.												T	2	4	90	54279619	54279619	G	T	1	0	0	0	0	0	0	0	1	8699	1219	43	2		2	LILRB2	19	54279619	Silent	SNP	G	C3N-02089_TP	38758	54279619	4337997	984	29781											
KIR2DL1	0	.	GRCh38	chr19	54775254	54775254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgcagctcccggagcTcctatgacatgtaccatcta	8	11	8	14	1	1	1	0	1	1	0	4	2	4	2	4	1	4	4	4	1	3	3	rs754789231		C3N-02089_TP	C3N-02089_NB	T	T																c.460T>C	p.Ser154Pro	p.S154P	ENST00000336077	4/8	175	163	12	160	160	0	varscan-mutect	KIR2DL1,missense_variant,p.Ser154Pro,ENST00000336077,NM_014218.2;KIR2DL1,missense_variant,p.Ser154Pro,ENST00000291633,;CTB-61M7.1,intron_variant,,ENST00000400864,;	C	ENST00000336077	Transcript	missense_variant	500/1596	460/1047	154/348	S/P	Tcc/Ccc	rs754789231	1		1	KIR2DL1	HGNC	HGNC:6329	protein_coding	YES	CCDS12904.1	ENSP00000336769		Q6H2H3	UPI00001195F7	NM_014218.2	deleterious(0.03)		4/8		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF119,Gene3D:2.60.40.10,Pfam_domain:PF00047,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs754789231	.												C	3	2	90	54775254	54775254	T	C	1	0	0	0	0	1	0	0	0	8181	1551	54	5		5	KIR2DL1	19	54775254	Missense_Mutation	SNP	T	C3N-02089_TP	495635	54775254	3842362	985	29782											
KIR3DL2	0	.	GRCh38	chr19	54855715	54855715	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctcctggagctcctatgAcatctaccatctgtccaggg	8	11	9	13	0	2	1	0	1	2	0	5	2	5	2	4	2	3	2	4	2	3	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.752A>T	p.Asp251Val	p.D251V	ENST00000326321	5/9	306	250	56	247	247	0	strelka-varscan-mutect	KIR3DL2,missense_variant,p.Asp251Val,ENST00000326321,NM_006737.3;KIR3DL2,missense_variant,p.Asp251Val,ENST00000270442,NM_001242867.1;KIR3DL1,intron_variant,,ENST00000402254,;	T	ENST00000326321	Transcript	missense_variant	785/1877	752/1368	251/455	D/V	gAc/gTc		1		1	KIR3DL2	HGNC	HGNC:6339	protein_coding	YES	CCDS12906.1	ENSP00000325525	P43630	A0A0U1WNF3	UPI000012DB25	NM_006737.3	deleterious(0.01)		5/9		Gene3D:2.60.40.10,Pfam_domain:PF00047,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF121,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	54855715	54855715	A	T	1	0	0	0	0	1	0	0	0	8185	275	10	4		4	KIR3DL2	19	54855715	Missense_Mutation	SNP	A	C3N-02089_TP	80461	54855715	3761901	986	29783											
NLRP2	0	.	GRCh38	chr19	55000881	55000881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcagaaaggccttcttctCatgacttcatgatctgaatc	10	12	9	10	0	4	4	2	3	3	1	6	4	4	4	1	2	0	1	1	2	2	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.3172C>T	p.His1058Tyr	p.H1058Y	ENST00000543010	13/13	349	291	58	309	309	0	strelka-varscan-mutect	NLRP2,missense_variant,p.His1058Tyr,ENST00000543010,NM_001174081.1;NLRP2,missense_variant,p.His1058Tyr,ENST00000448584,NM_017852.3;NLRP2,missense_variant,p.His1036Tyr,ENST00000537859,NM_001174082.1;NLRP2,missense_variant,p.His1055Tyr,ENST00000263437,;NLRP2,missense_variant,p.His1036Tyr,ENST00000339757,;NLRP2,missense_variant,p.His1034Tyr,ENST00000391721,;NLRP2,missense_variant,p.His1035Tyr,ENST00000427260,NM_001174083.1;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,non_coding_transcript_exon_variant,,ENST00000542755,;	T	ENST00000543010	Transcript	missense_variant	3315/3576	3172/3189	1058/1062	H/Y	Cat/Tat		1		1	NLRP2	HGNC	HGNC:22948	protein_coding	YES	CCDS12913.1	ENSP00000445135	Q9NX02		UPI000004C0CC	NM_001174081.1	tolerated(1)		13/13		hmmpanther:PTHR24106:SF129,hmmpanther:PTHR24106																	MODERATE	1	SNV	1			1										PASS		rs1220301290	.												T	3	4	90	55000881	55000881	C	T	1	0	0	0	0	1	0	0	0	10514	826	29	3		3	NLRP2	19	55000881	Missense_Mutation	SNP	C	C3N-02089_TP	145166	55000881	3616735	987	29784											
PPP1R12C	0	.	GRCh38	chr19	55093232	55093232	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaggtctgtaagagtcacaCcctggcagggaaaggggaca	12	6	14	9	0	3	1	2	0	1	1	3	3	3	3	1	5	0	2	1	5	2	1	rs770610718		C3N-02089_TP	C3N-02089_NB	C	C																c.1685G>T	p.Gly562Val	p.G562V	ENST00000263433	14/22	259	205	54	194	194	0	strelka-varscan-mutect	PPP1R12C,missense_variant,p.Gly562Val,ENST00000263433,NM_017607.3,NM_001271618.1;PPP1R12C,missense_variant,p.Gly488Val,ENST00000435544,;PPP1R12C,missense_variant,p.Gly518Val,ENST00000592993,;PPP1R12C,missense_variant,p.Gly77Val,ENST00000591938,;PPP1R12C,splice_region_variant,,ENST00000592754,;PPP1R12C,splice_region_variant,,ENST00000588277,;PPP1R12C,upstream_gene_variant,,ENST00000590268,;PPP1R12C,downstream_gene_variant,,ENST00000586197,;	A	ENST00000263433	Transcript	missense_variant,splice_region_variant	1701/2924	1685/2349	562/782	G/V	gGt/gTt	rs770610718	1		-1	PPP1R12C	HGNC	HGNC:14947	protein_coding	YES	CCDS12916.1	ENSP00000263433	Q9BZL4		UPI000006FEE1	NM_017607.3,NM_001271618.1	deleterious(0.02)		14/22		hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF27																	MODERATE	1	SNV	1			1										PASS		rs770610718	.												A	3	1	90	55093232	55093232	C	A	1	0	0	0	0	1	0	0	0	12466	521	18	2		2	PPP1R12C	19	55093232	Missense_Mutation	SNP	C	C3N-02089_TP	92351	55093232	3524384	988	29785											
PTPRH	0	.	GRCh38	chr19	55197213	55197213	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggttccagggcctccaCtttgtaccacgtctcattgg	5	11	10	15	2	1	0	1	0	1	0	4	0	3	0	5	3	1	2	5	3	1	4	rs142458859		C3N-02089_TP	C3N-02089_NB	C	C																c.1894G>T	p.Val632Leu	p.V632L	ENST00000376350	9/20	479	446	33	379	379	0	strelka-varscan-mutect	PTPRH,missense_variant,p.Val632Leu,ENST00000376350,NM_002842.4;PTPRH,missense_variant,p.Val454Leu,ENST00000263434,NM_001161440.2;PTPRH,non_coding_transcript_exon_variant,,ENST00000588559,;	A	ENST00000376350	Transcript	missense_variant	1917/3877	1894/3348	632/1115	V/L	Gtg/Ttg	rs142458859	1		-1	PTPRH	HGNC	HGNC:9672	protein_coding	YES	CCDS33110.1	ENSP00000365528	Q9HD43		UPI000052D443	NM_002842.4	tolerated(0.07)		9/20		PROSITE_profiles:PS50853,hmmpanther:PTHR19134:SF297,hmmpanther:PTHR19134,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		rs142458859	.												A	3	1	90	55197213	55197213	C	A	1	0	0	0	0	1	0	0	0	12957	565	20	2		2	PTPRH	19	55197213	Missense_Mutation	SNP	C	C3N-02089_TP	103981	55197213	3420403	989	29786											
TMEM150B	0	.	GRCh38	chr19	55320591	55320591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctttactgaggtccacaGtcctgttggtcactgcaatg	8	12	10	11	0	1	1	1	1	0	0	3	1	3	1	3	2	3	2	3	2	2	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.95C>A	p.Thr32Asn	p.T32N	ENST00000326652	4/8	205	171	34	189	187	2	strelka-varscan-mutect	TMEM150B,missense_variant,p.Thr32Asn,ENST00000326652,NM_001085488.2,NM_001282011.1;TMEM150B,missense_variant,p.Thr32Asn,ENST00000591570,;TMEM150B,upstream_gene_variant,,ENST00000585918,;TMEM150B,missense_variant,p.Thr32Asn,ENST00000586609,;TMEM150B,missense_variant,p.Thr32Asn,ENST00000592603,;TMEM150B,missense_variant,p.Thr32Asn,ENST00000592731,;TMEM150B,non_coding_transcript_exon_variant,,ENST00000592891,;	T	ENST00000326652	Transcript	missense_variant	278/943	95/702	32/233	T/N	aCt/aAt		1		-1	TMEM150B	HGNC	HGNC:34415	protein_coding	YES	CCDS42629.1	ENSP00000320757	A6NC51		UPI00001AF4D4	NM_001085488.2,NM_001282011.1	deleterious(0.02)		4/8		Pfam_domain:PF10277,hmmpanther:PTHR21324,hmmpanther:PTHR21324:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	55320591	55320591	G	T	1	0	0	0	0	1	0	0	0	16510	1029	36	2		2	TMEM150B	19	55320591	Missense_Mutation	SNP	G	C3N-02089_TP	123378	55320591	3297025	990	29787											
FAM71E2	0	.	GRCh38	chr19	55358606	55358606	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctggctgctctctgacCaccactggcttcccctccag	5	10	8	18	0	2	1	0	1	2	0	5	2	4	1	5	2	1	3	5	2	0	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2262G>T	p.=	p.V754V	ENST00000424985	9/11	200	164	36	177	176	1	strelka-varscan-mutect	FAM71E2,synonymous_variant,p.=,ENST00000424985,NM_001145402.1;COX6B2,upstream_gene_variant,,ENST00000593184,;COX6B2,upstream_gene_variant,,ENST00000588572,;COX6B2,upstream_gene_variant,,ENST00000326529,NM_144613.4;COX6B2,upstream_gene_variant,,ENST00000590900,;COX6B2,upstream_gene_variant,,ENST00000589467,;COX6B2,upstream_gene_variant,,ENST00000586191,;CTD-2105E13.6,synonymous_variant,p.=,ENST00000591954,;FAM71E2,3_prime_UTR_variant,,ENST00000585734,;COX6B2,upstream_gene_variant,,ENST00000587854,;COX6B2,upstream_gene_variant,,ENST00000587357,;	A	ENST00000424985	Transcript	synonymous_variant	2456/3191	2262/2769	754/922	V	gtG/gtT		1		-1	FAM71E2	HGNC	HGNC:25278	protein_coding	YES		ENSP00000398617	Q8N5Q1		UPI0001949ABA	NM_001145402.1			9/11		hmmpanther:PTHR22574:SF12,hmmpanther:PTHR22574																	LOW		SNV	5			1										PASS		.	.												A	2	1	90	55358606	55358606	C	A	1	0	0	0	0	0	0	0	1	5476	581	21	2		2	FAM71E2	19	55358606	Silent	SNP	C	C3N-02089_TP	38015	55358606	3259010	991	29788											
SBK2	0	.	GRCh38	chr19	55530047	55530047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgcccagcgcccaggcgtCcagggcgggctgaatgggca	7	3	17	14	4	0	1	0	1	0	0	1	2	1	1	3	4	1	2	3	4	1	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.733G>T	p.Asp245Tyr	p.D245Y	ENST00000413299	4/4	49	37	12	28	28	0	strelka-varscan-mutect	SBK2,missense_variant,p.Asp245Tyr,ENST00000413299,NM_001101401.2;SBK2,missense_variant,p.Asp245Tyr,ENST00000344158,;	A	ENST00000413299	Transcript	missense_variant	771/1085	733/1047	245/348	D/Y	Gac/Tac		1		-1	SBK2	HGNC	HGNC:34416	protein_coding	YES	CCDS42631.1	ENSP00000389015	P0C263		UPI00015DFA43	NM_001101401.2	deleterious(0)		4/4		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF167,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	55530047	55530047	C	A	1	0	0	0	0	1	0	0	0	14125	855	30	2		2	SBK2	19	55530047	Missense_Mutation	SNP	C	C3N-02089_TP	171441	55530047	3087569	992	29789											
NLRP8	0	.	GRCh38	chr19	55955240	55955240	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attctcttctccatgtgccgGgtccctgtggtttgctggat	3	16	11	11	1	2	0	0	0	2	0	5	1	3	1	3	3	2	2	3	3	0	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1182G>T	p.=	p.R394R	ENST00000291971	3/10	196	150	46	209	209	0	strelka-varscan-mutect	NLRP8,synonymous_variant,p.=,ENST00000291971,NM_176811.2;NLRP8,synonymous_variant,p.=,ENST00000590542,;	T	ENST00000291971	Transcript	synonymous_variant	1253/3934	1182/3147	394/1048	R	cgG/cgT		1		1	NLRP8	HGNC	HGNC:22940	protein_coding	YES	CCDS12937.1	ENSP00000291971	Q86W28		UPI00001BB3C9	NM_176811.2			3/10		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF54																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	90	55955240	55955240	G	T	1	0	0	0	0	0	0	0	1	10521	1219	43	2		2	NLRP8	19	55955240	Silent	SNP	G	C3N-02089_TP	425193	55955240	2662376	993	29790											
NLRP5	0	.	GRCh38	chr19	56027135	56027135	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagccagaaggatcgtgcTgtgctgggcgcaaggtggac	8	8	16	9	2	1	1	0	0	1	1	2	3	1	3	1	4	3	3	1	4	3	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.902T>A	p.Leu301Gln	p.L301Q	ENST00000390649	7/15	212	160	52	188	187	1	strelka-varscan-mutect	NLRP5,missense_variant,p.Leu301Gln,ENST00000390649,NM_153447.4;NLRP5,missense_variant,p.Leu301Gln,ENST00000621651,;	A	ENST00000390649	Transcript	missense_variant	902/3888	902/3603	301/1200	L/Q	cTg/cAg		1		1	NLRP5	HGNC	HGNC:21269	protein_coding	YES	CCDS12938.1	ENSP00000375063	P59047		UPI00001AEEBD	NM_153447.4	deleterious(0.03)		7/15		PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Pfam_domain:PF05729,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	56027135	56027135	T	A	1	0	0	0	0	1	0	0	0	10518	1580	55	4		4	NLRP5	19	56027135	Missense_Mutation	SNP	T	C3N-02089_TP	71895	56027135	2590481	994	29791											
NLRP5	0	.	GRCh38	chr19	56032710	56032710	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggacctgggcagcagcatCctgacagagcgggccatgaa	10	5	14	12	1	0	3	0	2	0	1	1	4	1	4	3	3	3	3	3	3	1	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2376C>A	p.=	p.I792I	ENST00000390649	8/15	175	144	31	170	170	0	strelka-varscan-mutect	NLRP5,synonymous_variant,p.=,ENST00000390649,NM_153447.4;NLRP5,synonymous_variant,p.=,ENST00000621651,;	A	ENST00000390649	Transcript	synonymous_variant	2376/3888	2376/3603	792/1200	I	atC/atA		1		1	NLRP5	HGNC	HGNC:21269	protein_coding	YES	CCDS12938.1	ENSP00000375063	P59047		UPI00001AEEBD	NM_153447.4			8/15		Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	56032710	56032710	C	A	1	0	0	0	0	0	0	0	1	10518	845	30	2		2	NLRP5	19	56032710	Silent	SNP	C	C3N-02089_TP	5575	56032710	2584906	995	29792											
DUXA	0	.	GRCh38	chr19	57154446	57154446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagagaaatgagagtcaCtagtgaagttggtgccattt	12	11	11	7	0	1	3	1	2	0	2	2	5	2	3	2	1	1	1	2	1	3	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.581G>T	p.Ser194Ile	p.S194I	ENST00000554048	6/6	243	226	17	198	198	0	strelka-varscan-mutect	DUXA,missense_variant,p.Ser194Ile,ENST00000554048,NM_001012729.1;CTC-360J11.5,downstream_gene_variant,,ENST00000604851,;CTC-360J11.6,upstream_gene_variant,,ENST00000604182,;	A	ENST00000554048	Transcript	missense_variant	581/1006	581/615	194/204	S/I	aGt/aTt		1		-1	DUXA	HGNC	HGNC:32179	protein_coding	YES	CCDS33126.1	ENSP00000452398	A6NLW8		UPI0000198B7E	NM_001012729.1	deleterious_low_confidence(0)		6/6																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	57154446	57154446	C	A	1	0	0	0	0	1	0	0	0	4656	565	20	2		2	DUXA	19	57154446	Missense_Mutation	SNP	C	C3N-02089_TP	1121736	57154446	1463170	996	29793											
ZNF304	0	.	GRCh38	chr19	57357535	57357535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagagagttcacacaggaGcaaggccttatgtgtgcagt	12	8	12	9	0	1	1	1	0	0	1	1	3	1	2	2	2	2	3	2	2	2	2	rs781706276		C3N-02089_TP	C3N-02089_NB	G	G																c.1807G>T	p.Ala603Ser	p.A603S	ENST00000443917	4/4	161	132	29	122	122	0	strelka-varscan-mutect	ZNF304,missense_variant,p.Ala556Ser,ENST00000391705,NM_020657.3;ZNF304,missense_variant,p.Ala556Ser,ENST00000282286,;ZNF304,missense_variant,p.Ala603Ser,ENST00000443917,NM_001290318.1;ZNF304,missense_variant,p.Ala514Ser,ENST00000598744,NM_001290319.1;	T	ENST00000443917	Transcript	missense_variant	2146/3391	1807/2121	603/706	A/S	Gca/Tca	rs781706276	1		1	ZNF304	HGNC	HGNC:13505	protein_coding	YES	CCDS77365.1	ENSP00000401642		E7EQD3	UPI00015DFA73	NM_001290318.1	deleterious(0.05)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF205,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs781706276	.												T	3	4	90	57357535	57357535	G	T	1	0	0	0	0	1	0	0	0	18408	971	34	2		2	ZNF304	19	57357535	Missense_Mutation	SNP	G	C3N-02089_TP	203089	57357535	1260081	997	29794											
TRAPPC2B	0	.	GRCh38	chr19	57365087	57365087	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatatgaggtttattaTgcttcatgacataagacaag	13	12	11	5	0	1	3	1	2	0	1	1	3	1	3	0	3	1	3	0	3	5	6	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.254T>A	p.Met85Lys	p.M85K	ENST00000596755	1/1	494	455	39	477	477	0	varscan-mutect	TRAPPC2B,missense_variant,p.Met85Lys,ENST00000596755,;TRAPPC2B,missense_variant,p.Met85Lys,ENST00000543226,;ZNF547,intron_variant,,ENST00000282282,NM_173631.3;AC003002.4,intron_variant,,ENST00000597658,;ZNF547,upstream_gene_variant,,ENST00000599604,;ZNF547,intron_variant,,ENST00000595335,;	A	ENST00000596755	Transcript	missense_variant	1521/1743	254/423	85/140	M/K	aTg/aAg		1		1	TRAPPC2B	HGNC	HGNC:10710	protein_coding	YES		ENSP00000469888	P0DI82	Q6IBE5	UPI000000162E		deleterious(0)		1/1		hmmpanther:PTHR12403,hmmpanther:PTHR12403:SF15,Pfam_domain:PF04628,Gene3D:2j3wA00,Superfamily_domains:SSF64356																	MODERATE		SNV				1										PASS		.	.												A	3	1	90	57365087	57365087	T	A	1	0	0	0	0	1	0	0	0	16945	1464	51	4		4	TRAPPC2B	19	57365087	Missense_Mutation	SNP	T	C3N-02089_TP	7552	57365087	1252529	998	29795											
ZNF17	0	.	GRCh38	chr19	57421092	57421092	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtagtgaatgtgggaaaTtctttaggcacaactcaaat	14	12	10	5	0	2	1	1	1	1	0	2	2	2	2	0	2	1	2	0	2	6	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1600T>G	p.Phe534Val	p.F534V	ENST00000601808	3/3	133	122	11	134	133	1	strelka-varscan-mutect	ZNF17,missense_variant,p.Phe536Val,ENST00000307658,;ZNF17,missense_variant,p.Phe534Val,ENST00000601808,NM_006959.2;AC004076.7,intron_variant,,ENST00000597410,;AC003002.6,downstream_gene_variant,,ENST00000596400,;AC003002.6,downstream_gene_variant,,ENST00000596617,;ZNF17,downstream_gene_variant,,ENST00000597350,;ZNF17,downstream_gene_variant,,ENST00000595206,;ZNF17,downstream_gene_variant,,ENST00000599867,;ZNF17,non_coding_transcript_exon_variant,,ENST00000602050,;ZNF17,downstream_gene_variant,,ENST00000595162,;	G	ENST00000601808	Transcript	missense_variant	1813/2524	1600/1989	534/662	F/V	Ttc/Gtc		1		1	ZNF17	HGNC	HGNC:12958	protein_coding	YES	CCDS42636.1	ENSP00000471905	P17021		UPI00001D8198	NM_006959.2	tolerated(0.46)		3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF166,Low_complexity_(Seg):seg,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	90	57421092	57421092	T	G	1	0	0	0	0	1	0	0	0	18323	1493	52	5		5	ZNF17	19	57421092	Missense_Mutation	SNP	T	C3N-02089_TP	56005	57421092	1196524	999	29796											
ZNF814	0	.	GRCh38	chr19	57873643	57873643	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgattgaactaaaagattTcccacattctccacacccat	13	10	3	15	1	1	2	0	1	1	1	3	3	2	2	4	0	1	0	4	0	3	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1747A>G	p.Lys583Glu	p.K583E	ENST00000435989	3/3	257	239	18	271	271	0	strelka-varscan-mutect	ZNF814,missense_variant,p.Lys583Glu,ENST00000435989,NM_001144989.1;ZNF814,intron_variant,,ENST00000597832,;ZNF814,intron_variant,,ENST00000614383,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,intron_variant,,ENST00000595048,;ZNF814,downstream_gene_variant,,ENST00000597807,;ZNF814,intron_variant,,ENST00000594629,;CTD-2583A14.11,downstream_gene_variant,,ENST00000604665,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,intron_variant,,ENST00000595894,;ZNF814,upstream_gene_variant,,ENST00000594159,;CTD-2583A14.9,downstream_gene_variant,,ENST00000602124,;CTD-2583A14.11,downstream_gene_variant,,ENST00000603829,;	C	ENST00000435989	Transcript	missense_variant	1982/3146	1747/2568	583/855	K/E	Aaa/Gaa		1		-1	ZNF814	HGNC	HGNC:33258	protein_coding	YES	CCDS46212.1	ENSP00000410545	B7Z6K7		UPI0001662BAD	NM_001144989.1	deleterious(0)		3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	90	57873643	57873643	T	C	1	0	0	0	0	1	0	0	0	18762	1792	62	5		5	ZNF814	19	57873643	Missense_Mutation	SNP	T	C3N-02089_TP	452551	57873643	743973	1000	29797											
ZNF256	0	.	GRCh38	chr19	57942404	57942404	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatgctgcttctggtgcTgatgaaggtatgcagtaaat	11	12	11	7	0	1	2	0	2	1	0	1	2	1	2	0	2	5	6	0	2	5	3	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.404A>T	p.Gln135Leu	p.Q135L	ENST00000282308	3/3	377	320	57	359	359	0	strelka-varscan-mutect	ZNF256,missense_variant,p.Gln135Leu,ENST00000282308,NM_005773.2;ZNF256,3_prime_UTR_variant,,ENST00000598928,;	A	ENST00000282308	Transcript	missense_variant	601/2172	404/1884	135/627	Q/L	cAg/cTg		1		-1	ZNF256	HGNC	HGNC:13049	protein_coding	YES	CCDS12966.1	ENSP00000282308	Q9Y2P7		UPI00001D69EC	NM_005773.2	deleterious(0)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF214,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	57942404	57942404	T	A	1	0	0	0	0	1	0	0	0	18375	1580	55	4		4	ZNF256	19	57942404	Missense_Mutation	SNP	T	C3N-02089_TP	68761	57942404	675212	1001	29798											
ZSCAN1	0	.	GRCh38	chr19	58053628	58053628	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccatccctcaagcacacCaaaggtggtacccaagaggc	13	4	9	15	0	1	1	1	0	0	1	2	1	2	1	4	3	3	2	4	3	4	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.804C>A	p.=	p.T268T	ENST00000282326	6/6	492	418	74	398	397	1	strelka-varscan-mutect	ZSCAN1,synonymous_variant,p.=,ENST00000282326,NM_182572.3;HNRNPDLP4,upstream_gene_variant,,ENST00000605144,;	A	ENST00000282326	Transcript	synonymous_variant	1051/2054	804/1227	268/408	T	acC/acA		1		1	ZSCAN1	HGNC	HGNC:23712	protein_coding	YES	CCDS12969.1	ENSP00000282326	Q8NBB4		UPI000013DCD2	NM_182572.3			6/6		hmmpanther:PTHR10032:SF187,hmmpanther:PTHR10032																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	90	58053628	58053628	C	A	1	0	0	0	0	0	0	0	1	18820	581	21	2		2	ZSCAN1	19	58053628	Silent	SNP	C	C3N-02089_TP	111224	58053628	563988	1002	29799											
SIRPG	0	.	GRCh38	chr20	1636301	1636301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggggtccagtaccaccCtggctgtgctgcggatgctg	5	8	14	14	1	0	0	0	0	0	0	1	1	1	1	4	4	4	4	4	4	1	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.635G>T	p.Arg212Met	p.R212M	ENST00000303415	3/6	286	207	79	331	331	0	strelka-varscan-mutect	SIRPG,missense_variant,p.Arg179Met,ENST00000381580,;SIRPG,missense_variant,p.Arg212Met,ENST00000303415,NM_018556.3;SIRPG,missense_variant,p.Arg212Met,ENST00000381583,NM_001039508.1;SIRPG,missense_variant,p.Arg212Met,ENST00000216927,;SIRPG,intron_variant,,ENST00000344103,NM_080816.2;SIRPG-AS1,intron_variant,,ENST00000456177,;SIRPG-AS1,intron_variant,,ENST00000437384,;	A	ENST00000303415	Transcript	missense_variant	700/1716	635/1164	212/387	R/M	aGg/aTg		1		-1	SIRPG	HGNC	HGNC:15757	protein_coding	YES	CCDS13020.2	ENSP00000305529	Q9P1W8		UPI00001AE5FD	NM_018556.3	deleterious(0.04)		3/6		PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF6,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	1636301	1636301	C	A	1	0	0	0	0	1	0	0	0	14599	681	24	2		2	SIRPG	20	1636301	Missense_Mutation	SNP	C	C3N-02089_TP		1636301	62807866	1003	29800											
TMC2	0	.	GRCh38	chr20	2602264	2602264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taagcgatctcagcaattctCcaaaatgcagaatgtcagct	14	10	7	10	1	3	1	2	0	2	1	5	2	3	1	1	0	4	3	1	0	5	2	rs751320695		C3N-02089_TP	C3N-02089_NB	C	C																c.1376C>A	p.Ser459Tyr	p.S459Y	ENST00000358864	11/20	71	46	25	93	93	0	strelka-varscan-mutect	TMC2,missense_variant,p.Ser459Tyr,ENST00000358864,NM_080751.2;TMC2,non_coding_transcript_exon_variant,,ENST00000496948,;	A	ENST00000358864	Transcript	missense_variant	1391/3169	1376/2721	459/906	S/Y	tCc/tAc	rs751320695,COSM352955	1		1	TMC2	HGNC	HGNC:16527	protein_coding	YES	CCDS13029.2	ENSP00000351732	Q8TDI7		UPI0000246C98	NM_080751.2	deleterious(0.02)		11/20		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF17											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs751320695	.												A	3	1	90	2602264	2602264	C	A	1	0	0	0	0	1	0	0	0	16431	855	30	2		2	TMC2	20	2602264	Missense_Mutation	SNP	C	C3N-02089_TP	965963	2602264	61841903	1004	29801											
GFRA4	0	.	GRCh38	chr20	3661105	3661105	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgcgtgggtgagcgcGggcggcccgcgggcgaagaa	7	3	21	10	7	0	2	0	1	0	1	0	3	0	2	1	4	3	1	1	4	2	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.231C>A	p.=	p.P77P	ENST00000319242	2/5	89	61	28	69	69	0	strelka-varscan-mutect	GFRA4,synonymous_variant,p.=,ENST00000290417,NM_022139.3;GFRA4,synonymous_variant,p.=,ENST00000319242,NM_145762.2;GFRA4,synonymous_variant,p.=,ENST00000477160,;	T	ENST00000319242	Transcript	synonymous_variant	231/900	231/900	77/299	P	ccC/ccA		1		-1	GFRA4	HGNC	HGNC:13821	protein_coding	YES	CCDS13056.1	ENSP00000313423	Q9GZZ7		UPI0000070328	NM_145762.2			2/5		Pfam_domain:PF02351,hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF2,Low_complexity_(Seg):seg,SMART_domains:SM00907																	LOW	1	SNV	2			1										PASS		rs943616306	.												T	2	4	90	3661105	3661105	G	T	1	0	0	0	0	0	0	0	1	6224	1103	39	1		1	GFRA4	20	3661105	Silent	SNP	G	C3N-02089_TP	1058841	3661105	60783062	1005	29802											
JAG1	0	.	GRCh38	chr20	10642523	10642523	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccactgtgccctggagggCagacacaccggtagccattg	9	6	12	14	1	0	1	0	0	0	1	0	2	0	2	4	3	2	2	4	3	1	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2537G>T	p.Cys846Phe	p.C846F	ENST00000254958	21/26	510	363	147	486	485	1	strelka-varscan-mutect	JAG1,missense_variant,p.Cys846Phe,ENST00000254958,NM_000214.2;JAG1,downstream_gene_variant,,ENST00000613518,;JAG1,non_coding_transcript_exon_variant,,ENST00000423891,;JAG1,downstream_gene_variant,,ENST00000488480,;JAG1,downstream_gene_variant,,ENST00000612857,;JAG1,upstream_gene_variant,,ENST00000617357,;JAG1,downstream_gene_variant,,ENST00000622545,;	A	ENST00000254958	Transcript	missense_variant	3114/6048	2537/3657	846/1218	C/F	tGc/tTc		1		-1	JAG1	HGNC	HGNC:6188	protein_coding	YES	CCDS13112.1	ENSP00000254958	P78504		UPI00000498B5	NM_000214.2	deleterious(0)		21/26		Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_patterns:PS00010,PROSITE_patterns:PS00022,PROSITE_profiles:PS50026,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF269,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	10642523	10642523	C	A	1	0	0	0	0	1	0	0	0	7847	710	25	2		2	JAG1	20	10642523	Missense_Mutation	SNP	C	C3N-02089_TP	6981418	10642523	53801644	1006	29803											
AL031664.1	0	.	GRCh38	chr20	17494545	17494545	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcaggagagggctccacCtggccgtcataaagcacaga	12	5	12	12	1	2	2	2	0	0	2	3	4	3	2	3	3	1	2	3	3	2	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1527G>T	p.Gln509His	p.Q509H	ENST00000377873	8/8	121	93	28	164	163	1	strelka-varscan-mutect	BFSP1,missense_variant,p.Gln509His,ENST00000377873,NM_001195.4;BFSP1,missense_variant,p.Gln384His,ENST00000377868,NM_001161705.1,NM_001278607.1;AL031664.1,missense_variant,p.Gln370His,ENST00000536626,NM_001278606.1,NM_001278608.1;	A	ENST00000377873	Transcript	missense_variant	1567/2207	1527/1998	509/665	Q/H	caG/caT		1		-1	BFSP1	HGNC	HGNC:1040	protein_coding	YES	CCDS13126.1	ENSP00000367104	Q12934		UPI00001268C7	NM_001195.4	tolerated(0.33)		8/8		hmmpanther:PTHR14069,hmmpanther:PTHR14069:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	17494545	17494545	C	A	1	0	0	0	0	1	0	0	0	568	680	24	2		2	AL031664.1	20	17494545	Missense_Mutation	SNP	C	C3N-02089_TP	6852022	17494545	46949622	1007	29804											
DZANK1	0	.	GRCh38	chr20	18393728	18393728	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactataagctgctccttctTttcttgaaaagttttggtct	8	19	6	8	0	3	1	0	1	3	0	4	1	4	1	1	1	3	3	1	1	5	9	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1792A>C	p.Lys598Gln	p.K598Q	ENST00000262547	17/21	125	114	11	130	130	0	strelka-varscan-mutect	DZANK1,missense_variant,p.Lys405Gln,ENST00000357236,;DZANK1,missense_variant,p.Lys598Gln,ENST00000262547,NM_001099407.1;DZANK1,missense_variant,p.Lys598Gln,ENST00000358866,;DZANK1,missense_variant,p.Lys71Gln,ENST00000476058,;DZANK1,missense_variant,p.Lys308Gln,ENST00000329494,;DZANK1,missense_variant,p.Lys136Gln,ENST00000480488,;DZANK1,3_prime_UTR_variant,,ENST00000608192,;DZANK1,3_prime_UTR_variant,,ENST00000377630,;DZANK1,3_prime_UTR_variant,,ENST00000609267,;DZANK1,downstream_gene_variant,,ENST00000460891,;	G	ENST00000262547	Transcript	missense_variant	2001/3498	1792/2259	598/752	K/Q	Aag/Cag		1		-1	DZANK1	HGNC	HGNC:15858	protein_coding	YES	CCDS46582.1	ENSP00000262547	Q9NVP4		UPI0000E064B4	NM_001099407.1	tolerated(0.13)		17/21		hmmpanther:PTHR16058,hmmpanther:PTHR16058:SF4																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	90	18393728	18393728	T	G	1	0	0	0	0	1	0	0	0	4686	1850	64	5		5	DZANK1	20	18393728	Missense_Mutation	SNP	T	C3N-02089_TP	899183	18393728	46050439	1008	29805											
NINL	0	.	GRCh38	chr20	25462454	25462454	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtcacacgatgctcctCgttttgggcctggtgggtag	6	12	14	9	2	1	0	1	0	0	0	3	1	2	0	2	4	1	3	2	4	2	3	rs145654950		C3N-02089_TP	C3N-02089_NB	C	C																c.3511G>T	p.Glu1171Ter	p.E1171*	ENST00000278886	20/24	413	355	58	184	184	0	strelka-varscan-mutect	NINL,stop_gained,p.Glu1171Ter,ENST00000278886,NM_025176.4;NINL,stop_gained,p.Glu822Ter,ENST00000422516,NM_001318226.1;NINL,stop_gained,p.Glu124Ter,ENST00000336104,;NINL,non_coding_transcript_exon_variant,,ENST00000496509,;NINL,upstream_gene_variant,,ENST00000464285,;	A	ENST00000278886	Transcript	stop_gained	3585/4969	3511/4149	1171/1382	E/*	Gag/Tag	rs145654950	1		-1	NINL	HGNC	HGNC:29163	protein_coding	YES	CCDS33452.1	ENSP00000278886	Q9Y2I6		UPI0000206B64	NM_025176.4			20/24		hmmpanther:PTHR18905:SF12,hmmpanther:PTHR18905																	HIGH	1	SNV	1			1										PASS		rs145654950	.												A	4	1	90	25462454	25462454	C	A	1	0	0	0	0	0	1	0	0	10455	893	31	1		1	NINL	20	25462454	Nonsense_Mutation	SNP	C	C3N-02089_TP	7068726	25462454	38981713	1009	29806											
TPX2	0	.	GRCh38	chr20	31793930	31793930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaaatcccagaggcaaGaactgtggaaatatgccctt	13	7	9	12	0	0	2	0	0	0	2	1	3	1	3	4	2	2	1	4	2	5	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1592G>T	p.Arg531Ile	p.R531I	ENST00000300403	14/18	230	149	81	164	164	0	strelka-varscan-mutect	TPX2,missense_variant,p.Arg567Ile,ENST00000340513,;TPX2,missense_variant,p.Arg531Ile,ENST00000300403,NM_012112.4;	T	ENST00000300403	Transcript	missense_variant	2120/3497	1592/2244	531/747	R/I	aGa/aTa		1		1	TPX2	HGNC	HGNC:1249	protein_coding	YES	CCDS13190.1	ENSP00000300403	Q9ULW0	Q643R0	UPI00000015BB	NM_012112.4	deleterious(0)		14/18		hmmpanther:PTHR14326,hmmpanther:PTHR14326:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	31793930	31793930	G	T	1	0	0	0	0	1	0	0	0	16913	942	33	2		2	TPX2	20	31793930	Missense_Mutation	SNP	G	C3N-02089_TP	6331476	31793930	32650237	1010	29807											
XKR7	0	.	GRCh38	chr20	31997388	31997388	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtactcctcacctgcCacgccccggttgcagtaccg	6	8	10	17	3	1	0	1	0	0	0	2	1	2	1	6	2	4	4	6	2	2	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1671C>A	p.=	p.A557A	ENST00000562532	3/3	195	161	34	96	95	1	strelka-varscan-mutect	XKR7,synonymous_variant,p.=,ENST00000562532,NM_001011718.1;	A	ENST00000562532	Transcript	synonymous_variant	1845/7844	1671/1740	557/579	A	gcC/gcA		1		1	XKR7	HGNC	HGNC:23062	protein_coding	YES	CCDS33459.1	ENSP00000477059	Q5GH72		UPI00004C7A9E	NM_001011718.1			3/3		hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF9																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	31997388	31997388	C	A	1	0	0	0	0	0	0	0	1	17995	581	21	2		2	XKR7	20	31997388	Silent	SNP	C	C3N-02089_TP	203458	31997388	32446779	1011	29808											
PLAGL2	0	.	GRCh38	chr20	32197312	32197312	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacggcctgtgtgcaccaCtaggtgccgccgtacatcct	6	10	10	15	3	0	0	0	0	0	0	1	0	1	0	5	2	4	2	5	2	3	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.631G>T	p.Val211Leu	p.V211L	ENST00000246229	3/3	311	166	145	213	212	1	strelka-varscan-mutect	PLAGL2,missense_variant,p.Val211Leu,ENST00000246229,NM_002657.3;	A	ENST00000246229	Transcript	missense_variant	896/5705	631/1491	211/496	V/L	Gtg/Ttg		1		-1	PLAGL2	HGNC	HGNC:9047	protein_coding	YES	CCDS13197.1	ENSP00000246229	Q9UPG8		UPI0000001C1D	NM_002657.3	deleterious(0)		3/3		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF124,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	32197312	32197312	C	A	1	0	0	0	0	1	0	0	0	12114	565	20	2		2	PLAGL2	20	32197312	Missense_Mutation	SNP	C	C3N-02089_TP	199924	32197312	32246855	1012	29809											
BPIFB2	0	.	GRCh38	chr20	33012884	33012884	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcgcctgctggcagcagcTaattttactttcaaggtctt	7	14	10	10	1	2	0	1	0	1	0	2	0	2	0	1	2	5	4	1	2	3	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.285T>A	p.=	p.A95A	ENST00000170150	4/16	290	177	113	187	187	0	strelka-varscan-mutect	BPIFB2,synonymous_variant,p.=,ENST00000170150,NM_025227.2;	A	ENST00000170150	Transcript	synonymous_variant	480/1898	285/1377	95/458	A	gcT/gcA		1		1	BPIFB2	HGNC	HGNC:16177	protein_coding	YES	CCDS13210.1	ENSP00000170150	Q8N4F0		UPI00000377B0	NM_025227.2			4/16		hmmpanther:PTHR10504:SF92,hmmpanther:PTHR10504,Pfam_domain:PF01273,PIRSF_domain:PIRSF002417,Superfamily_domains:SSF55394																	LOW	1	SNV	1			1										PASS		rs1197769063	.												A	2	1	90	33012884	33012884	T	A	1	0	0	0	0	0	0	0	1	1658	1509	53	4		4	BPIFB2	20	33012884	Silent	SNP	T	C3N-02089_TP	815572	33012884	31431283	1013	29810											
BPIFB6	0	.	GRCh38	chr20	33043363	33043363	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggctgagctggacatagTagaggtgagaggaggggcta	10	7	18	6	0	0	3	0	2	0	2	0	6	0	5	1	6	1	4	1	6	3	3	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1325T>C	p.Val442Ala	p.V442A	ENST00000349552	14/15	338	218	120	228	228	0	strelka-varscan-mutect	BPIFB6,missense_variant,p.Val442Ala,ENST00000349552,NM_174897.2;BPIFB6,3_prime_UTR_variant,,ENST00000542375,;PUDPP3,downstream_gene_variant,,ENST00000445368,;	C	ENST00000349552	Transcript	missense_variant	1325/1362	1325/1362	442/453	V/A	gTa/gCa		1		1	BPIFB6	HGNC	HGNC:16504	protein_coding	YES	CCDS13211.1	ENSP00000344929	Q8NFQ5		UPI000003C8F3	NM_174897.2	tolerated(0.25)		14/15		hmmpanther:PTHR10504:SF71,hmmpanther:PTHR10504,Gene3D:1ewfA02,Pfam_domain:PF02886,SMART_domains:SM00329,Superfamily_domains:SSF55394																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	33043363	33043363	T	C	1	0	0	0	0	1	0	0	0	1661	1652	57	5		5	BPIFB6	20	33043363	Missense_Mutation	SNP	T	C3N-02089_TP	30479	33043363	31400804	1014	29811											
NECAB3	0	.	GRCh38	chr20	33659885	33659885	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccaccccaggcgcacCtgtgtcagaagagccggggg	8	3	13	17	2	1	2	1	0	0	2	1	2	1	2	7	3	1	1	7	3	1	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.643G>T	p.Gly215Trp	p.G215W	ENST00000246190	7/12	219	122	97	103	103	0	strelka-varscan-mutect	NECAB3,missense_variant,p.Gly215Trp,ENST00000246190,NM_031232.3;NECAB3,missense_variant,p.Gly215Trp,ENST00000375238,NM_031231.3;NECAB3,missense_variant,p.Gly215Trp,ENST00000439478,;NECAB3,missense_variant,p.Gly215Trp,ENST00000606690,;NECAB3,splice_region_variant,,ENST00000480994,;C20orf144,upstream_gene_variant,,ENST00000375222,NM_080825.3;RP1-63M2.7,upstream_gene_variant,,ENST00000621597,;NECAB3,splice_region_variant,,ENST00000606525,;NECAB3,splice_region_variant,,ENST00000483813,;NECAB3,splice_region_variant,,ENST00000485976,;NECAB3,splice_region_variant,,ENST00000494174,;NECAB3,splice_region_variant,,ENST00000478237,;NECAB3,splice_region_variant,,ENST00000463246,;NECAB3,splice_region_variant,,ENST00000498353,;NECAB3,downstream_gene_variant,,ENST00000606106,;NECAB3,upstream_gene_variant,,ENST00000477778,;NECAB3,splice_region_variant,,ENST00000488489,;NECAB3,splice_region_variant,,ENST00000485399,;NECAB3,splice_region_variant,,ENST00000607805,;NECAB3,3_prime_UTR_variant,,ENST00000493590,;C20orf144,upstream_gene_variant,,ENST00000607738,;NECAB3,downstream_gene_variant,,ENST00000606699,;	A	ENST00000246190	Transcript	missense_variant,splice_region_variant	699/1989	643/1191	215/396	G/W	Ggg/Tgg		1		-1	NECAB3	HGNC	HGNC:15851	protein_coding	YES	CCDS42866.1	ENSP00000246190	Q96P71		UPI0000125101	NM_031232.3	deleterious(0)		7/12		hmmpanther:PTHR12178,hmmpanther:PTHR12178:SF3																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	90	33659885	33659885	C	A	1	0	0	0	0	1	0	0	0	10330	695	24	2		2	NECAB3	20	33659885	Missense_Mutation	SNP	C	C3N-02089_TP	616522	33659885	30784282	1015	29812											
ACTL10	0	.	GRCh38	chr20	33667994	33667994	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcagacaccgtggtgctagCcggcggctccacactgtttc	6	8	13	14	3	0	1	0	0	0	1	2	1	1	1	3	4	2	4	3	4	1	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.497C>A	p.Ala166Asp	p.A166D	ENST00000330271	1/1	110	101	9	48	48	0	strelka-varscan-mutect	ACTL10,missense_variant,p.Ala166Asp,ENST00000330271,NM_001024675.1;NECAB3,intron_variant,,ENST00000246190,NM_031232.3;NECAB3,intron_variant,,ENST00000375238,NM_031231.3;NECAB3,intron_variant,,ENST00000439478,;NECAB3,intron_variant,,ENST00000606690,;NECAB3,upstream_gene_variant,,ENST00000480994,;C20orf144,downstream_gene_variant,,ENST00000375222,NM_080825.3;NECAB3,downstream_gene_variant,,ENST00000473892,;NECAB3,intron_variant,,ENST00000494174,;NECAB3,upstream_gene_variant,,ENST00000485976,;NECAB3,upstream_gene_variant,,ENST00000606106,;NECAB3,intron_variant,,ENST00000488489,;NECAB3,intron_variant,,ENST00000485399,;NECAB3,intron_variant,,ENST00000606699,;NECAB3,intron_variant,,ENST00000607805,;NECAB3,intron_variant,,ENST00000493590,;C20orf144,downstream_gene_variant,,ENST00000607738,;NECAB3,downstream_gene_variant,,ENST00000484824,;NECAB3,downstream_gene_variant,,ENST00000607055,;	A	ENST00000330271	Transcript	missense_variant	1497/2028	497/738	166/245	A/D	gCc/gAc		1		1	ACTL10	HGNC	HGNC:16127	protein_coding	YES	CCDS33463.1	ENSP00000329647	Q5JWF8		UPI0000470AC1	NM_001024675.1	deleterious(0)		1/1		Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF183,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE		SNV				1										PASS		rs1189243529	.												A	3	1	90	33667994	33667994	C	A	1	0	0	0	0	1	0	0	0	241	739	26	2		2	ACTL10	20	33667994	Missense_Mutation	SNP	C	C3N-02089_TP	8109	33667994	30776173	1016	29813											
PIGU	0	.	GRCh38	chr20	34585515	34585537	+	Frame_Shift_Del	DEL	TCAAACATCTCTGCAAAGAAGTA	TCAAACATCTCTGCAAAGAAGTA	-																															caaagaagaggctgaagtgcTcaaacatctctgcaaagaag																								novel		C3N-02089_TP	C3N-02089_NB	TCAAACATCTCTGCAAAGAAGTA	TCAAACATCTCTGCAAAGAAGTA																c.826_848delTACTTCTTTGCAGAGATGTTTGA	p.Tyr276AlafsTer44	p.Y276Afs*44	ENST00000217446	9/12	284	258	26	252	252	0	sindel-pindel	PIGU,frameshift_variant,p.Tyr276AlafsTer44,ENST00000217446,NM_080476.4;PIGU,frameshift_variant,p.Tyr256AlafsTer44,ENST00000374820,;PIGU,intron_variant,,ENST00000438215,;PIGU,intron_variant,,ENST00000480175,;	-	ENST00000217446	Transcript	frameshift_variant	826-848/1632	826-848/1308	276-283/435	YFFAEMFE/X	TACTTCTTTGCAGAGATGTTTGAg/g		1		-1	PIGU	HGNC	HGNC:15791	protein_coding	YES	CCDS13239.1	ENSP00000217446	Q9H490		UPI0000131ABC	NM_080476.4			9/12		Pfam_domain:PF06728,hmmpanther:PTHR13121,Transmembrane_helices:TMhelix																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	90	34585515	34585515	TCAAACATCTCTGCAAAGAAGTA	-	1	0	1	0	1	0	0	0	0	11994	1551	54	0		0	PIGU	20	34585515	Frame_Shift_Del	DEL	TCAAACATCTCTGCAAAGAAGTA	C3N-02089_TP	917521	34585515	29858652	1017	29814											
MMP24	0	.	GRCh38	chr20	35254672	35254672	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggattcctggcccatgcCtacttccctggcccagggat	5	9	13	14	0	0	0	0	0	0	0	2	2	2	2	5	5	2	0	5	5	1	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.735C>A	p.=	p.A245A	ENST00000246186	4/9	328	297	31	228	228	0	strelka-varscan-mutect	MMP24,synonymous_variant,p.=,ENST00000246186,NM_006690.3;MMP24-AS1,intron_variant,,ENST00000635104,;MMP24-AS1,intron_variant,,ENST00000566203,;MMP24-AS1,intron_variant,,ENST00000438751,;MMP24-AS1,intron_variant,,ENST00000456350,;MMP24-AS1,intron_variant,,ENST00000433764,;MMP24-AS1,intron_variant,,ENST00000454184,;MMP24-AS1,downstream_gene_variant,,ENST00000453892,;	A	ENST00000246186	Transcript	synonymous_variant	820/4414	735/1938	245/645	A	gcC/gcA		1		1	MMP24	HGNC	HGNC:7172	protein_coding	YES	CCDS46593.1	ENSP00000246186	Q9Y5R2		UPI000012F259	NM_006690.3			4/9		hmmpanther:PTHR10201:SF138,hmmpanther:PTHR10201,Pfam_domain:PF00413,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138																	LOW	1	SNV	1			1										PASS		rs1234383513	.												A	2	1	90	35254672	35254672	C	A	1	0	0	0	0	0	0	0	1	9624	668	24	2		2	MMP24	20	35254672	Silent	SNP	C	C3N-02089_TP	669157	35254672	29189495	1018	29815											
FAM83C	0	.	GRCh38	chr20	35286823	35286823	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttgatatcgggagaccAttgggcccaggcccctcacc	7	7	13	14	1	1	2	1	1	0	1	2	3	1	2	5	4	0	1	5	4	1	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.1956T>G	p.Asn652Lys	p.N652K	ENST00000374408	4/4	474	408	66	339	339	0	strelka-varscan-mutect	FAM83C,missense_variant,p.Asn652Lys,ENST00000374408,NM_178468.5;EIF6,upstream_gene_variant,,ENST00000374450,NM_002212.3;EIF6,upstream_gene_variant,,ENST00000374436,NM_181468.2;EIF6,upstream_gene_variant,,ENST00000621148,NM_001267810.1;EIF6,upstream_gene_variant,,ENST00000374443,NM_181466.2;EIF6,upstream_gene_variant,,ENST00000456600,;FAM83C-AS1,downstream_gene_variant,,ENST00000429167,;EIF6,upstream_gene_variant,,ENST00000462894,;EIF6,upstream_gene_variant,,ENST00000447927,;EIF6,upstream_gene_variant,,ENST00000440766,;EIF6,upstream_gene_variant,,ENST00000415116,;	C	ENST00000374408	Transcript	missense_variant	2053/3145	1956/2244	652/747	N/K	aaT/aaG		1		-1	FAM83C	HGNC	HGNC:16121	protein_coding	YES	CCDS13251.1	ENSP00000363529	Q9BQN1		UPI0000072DC0	NM_178468.5	deleterious_low_confidence(0.01)		4/4		hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	35286823	35286823	A	C	1	0	0	0	0	1	0	0	0	5493	214	8	5		5	FAM83C	20	35286823	Missense_Mutation	SNP	A	C3N-02089_TP	32151	35286823	29157344	1019	29816											
CEP250	0	.	GRCh38	chr20	35507849	35507849	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggtgtgcagctgggaGaggtgagctgggggctctgg	6	7	22	6	0	1	2	0	1	1	1	1	3	1	2	0	6	4	5	0	6	0	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.6748G>T	p.Glu2250Ter	p.E2250*	ENST00000397527	31/35	224	184	40	173	173	0	strelka-varscan-mutect	CEP250,stop_gained,p.Glu2250Ter,ENST00000397527,NM_007186.4;CEP250,stop_gained,p.Glu738Ter,ENST00000422671,;CEP250,upstream_gene_variant,,ENST00000621352,;	T	ENST00000397527	Transcript	stop_gained,splice_region_variant	7468/15703	6748/7329	2250/2442	E/*	Gag/Tag		1		1	CEP250	HGNC	HGNC:1859	protein_coding	YES	CCDS13255.1	ENSP00000380661	Q9BV73		UPI000006FE8F	NM_007186.4			31/35		hmmpanther:PTHR23159:SF1,hmmpanther:PTHR23159																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	90	35507849	35507849	G	T	1	0	0	0	0	0	1	0	0	2968	956	33	2		2	CEP250	20	35507849	Nonsense_Mutation	SNP	G	C3N-02089_TP	221026	35507849	28936318	1020	29817											
DLGAP4	0	.	GRCh38	chr20	36431991	36431991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccccttccccagccatGcccaagccaccaagatcaac	12	4	6	19	0	1	2	1	0	0	2	2	2	2	2	8	0	5	0	8	0	3	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.274G>T	p.Ala92Ser	p.A92S	ENST00000373913	3/13	523	358	165	329	329	0	strelka-varscan-mutect	DLGAP4,missense_variant,p.Ala92Ser,ENST00000373913,NM_014902.5;DLGAP4,missense_variant,p.Ala92Ser,ENST00000339266,;DLGAP4,missense_variant,p.Ala92Ser,ENST00000401952,;DLGAP4,missense_variant,p.Ala92Ser,ENST00000373907,;	T	ENST00000373913	Transcript	missense_variant	754/5056	274/2970	92/989	A/S	Gcc/Tcc		1		1	DLGAP4	HGNC	HGNC:24476	protein_coding	YES	CCDS13274.1	ENSP00000363023	Q9Y2H0		UPI000013D34B	NM_014902.5	tolerated(0.25)		3/13		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF19																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	36431991	36431991	G	T	1	0	0	0	0	1	0	0	0	4369	1319	46	2		2	DLGAP4	20	36431991	Missense_Mutation	SNP	G	C3N-02089_TP	924142	36431991	28012176	1021	29818											
TGM2	0	.	GRCh38	chr20	38138300	38138300	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgctctggcccacacggatCcgcatggccatccctgtctc	6	9	9	17	2	2	0	0	0	2	0	5	1	4	1	4	3	1	2	4	3	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1428G>A	p.=	p.R476R	ENST00000361475	10/13	403	331	72	355	355	0	strelka-varscan-mutect	TGM2,synonymous_variant,p.=,ENST00000361475,NM_001323316.1,NM_001323318.1,NM_004613.2;TGM2,non_coding_transcript_exon_variant,,ENST00000468262,;TGM2,upstream_gene_variant,,ENST00000469269,;	T	ENST00000361475	Transcript	synonymous_variant	1602/5070	1428/2064	476/687	R	cgG/cgA		1		-1	TGM2	HGNC	HGNC:11778	protein_coding	YES	CCDS13302.1	ENSP00000355330	P21980	V9HWG3	UPI0000136CCB	NM_001323316.1,NM_001323318.1,NM_004613.2			10/13		hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF6,Pfam_domain:PF00927,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF49309																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	38138300	38138300	C	T	1	0	0	0	0	0	0	0	1	16263	842	30	3		3	TGM2	20	38138300	Silent	SNP	C	C3N-02089_TP	1706309	38138300	26305867	1022	29819											
SLC32A1	0	.	GRCh38	chr20	38724847	38724847	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggccacggatgaggaggcGgtgggcttcgcgcattgcga	6	6	19	10	6	0	1	0	1	0	0	1	4	0	3	1	6	1	2	1	6	0	2	rs151110255		C3N-02089_TP	C3N-02089_NB	G	G																c.123G>A	p.=	p.A41A	ENST00000217420	1/2	320	269	51	254	254	0	strelka-varscan-mutect	SLC32A1,synonymous_variant,p.=,ENST00000217420,NM_080552.2;	A	ENST00000217420	Transcript	synonymous_variant	386/2574	123/1578	41/525	A	gcG/gcA	rs151110255	1		1	SLC32A1	HGNC	HGNC:11018	protein_coding	YES	CCDS13307.1	ENSP00000217420	Q9H598		UPI0000043423	NM_080552.2			1/2																			LOW	1	SNV	1			1										PASS		rs151110255	.												A	2	1	90	38724847	38724847	G	A	1	0	0	0	0	0	0	0	1	14835	1103	39	1		1	SLC32A1	20	38724847	Silent	SNP	G	C3N-02089_TP	586547	38724847	25719320	1023	29820											
PPP1R16B	0	.	GRCh38	chr20	38907034	38907034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagtctcagtgcaaggacatCcatggatgagatgccaatag	13	9	11	8	0	1	1	1	1	1	1	3	4	2	3	2	2	2	1	2	2	4	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.878C>A	p.Ser293Tyr	p.S293Y	ENST00000299824	8/11	204	166	38	181	181	0	strelka-varscan-mutect	PPP1R16B,missense_variant,p.Ser293Tyr,ENST00000299824,NM_015568.2;PPP1R16B,missense_variant,p.Ser251Tyr,ENST00000373331,NM_001172735.1;	A	ENST00000299824	Transcript	missense_variant	1067/6251	878/1704	293/567	S/Y	tCc/tAc		1		1	PPP1R16B	HGNC	HGNC:15850	protein_coding	YES	CCDS13309.1	ENSP00000299824	Q96T49		UPI0000132059	NM_015568.2	tolerated(1)		8/11		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24186,hmmpanther:PTHR24186:SF6,Gene3D:1.25.40.20,PIRSF_domain:PIRSF038159,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	38907034	38907034	C	A	1	0	0	0	0	1	0	0	0	12476	855	30	2		2	PPP1R16B	20	38907034	Missense_Mutation	SNP	C	C3N-02089_TP	182187	38907034	25537133	1024	29821											
PTPRT	0	.	GRCh38	chr20	42791341	42791341	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcccctgggctggaccTgtcacggctggagaagtagt	8	7	15	11	1	1	1	1	0	0	1	1	3	1	2	3	5	0	3	3	5	3	1	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.340A>T	p.Arg114Trp	p.R114W	ENST00000373198	3/32	391	238	153	240	240	0	strelka-varscan-mutect	PTPRT,missense_variant,p.Arg114Trp,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Arg114Trp,ENST00000373193,;PTPRT,missense_variant,p.Arg114Trp,ENST00000373201,;PTPRT,missense_variant,p.Arg114Trp,ENST00000373190,;PTPRT,missense_variant,p.Arg114Trp,ENST00000373184,;PTPRT,missense_variant,p.Arg114Trp,ENST00000356100,;PTPRT,missense_variant,p.Arg114Trp,ENST00000373187,NM_007050.5;PTPRT,missense_variant,p.Arg43Trp,ENST00000620410,;PTPRT,3_prime_UTR_variant,,ENST00000617474,;	A	ENST00000373198	Transcript	missense_variant	576/12746	340/4383	114/1460	R/W	Agg/Tgg		1		-1	PTPRT	HGNC	HGNC:9682	protein_coding	YES	CCDS68127.1	ENSP00000362294		A0A075B6H0	UPI00001AF6FA	NM_133170.3	deleterious(0)		3/32		Pfam_domain:PF00629,PROSITE_profiles:PS50060,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,SMART_domains:SM00137,Superfamily_domains:SSF49899																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	90	42791341	42791341	T	A	1	0	0	0	0	1	0	0	0	12967	1579	55	4		4	PTPRT	20	42791341	Missense_Mutation	SNP	T	C3N-02089_TP	3884307	42791341	21652826	1025	29822											
JPH2	0	.	GRCh38	chr20	44160068	44160068	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgacacggctgcgctggctaCccacggacgtgcgcgactct	6	7	13	15	6	1	1	0	1	1	0	1	3	1	2	1	3	3	3	1	3	1	1	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.719G>C	p.Gly240Ala	p.G240A	ENST00000372980	2/6	264	226	38	142	142	0	strelka-varscan-mutect	JPH2,missense_variant,p.Gly240Ala,ENST00000372980,NM_020433.4;	G	ENST00000372980	Transcript	missense_variant	1592/4787	719/2091	240/696	G/A	gGt/gCt		1		-1	JPH2	HGNC	HGNC:14202	protein_coding	YES	CCDS13325.1	ENSP00000362071	Q9BR39		UPI000012DAC2	NM_020433.4	tolerated(0.59)		2/6		hmmpanther:PTHR23085:SF5,hmmpanther:PTHR23085,PIRSF_domain:PIRSF037387																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	90	44160068	44160068	C	G	1	0	0	0	0	1	0	0	0	7873	507	18	4		4	JPH2	20	44160068	Missense_Mutation	SNP	C	C3N-02089_TP	1368727	44160068	20284099	1026	29823											
NCOA5	0	.	GRCh38	chr20	46068638	46068638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggtcataagagccttctctCctgaaaagttaaggaaattt	13	12	8	8	1	2	2	1	1	1	1	4	3	3	3	2	2	1	1	2	2	5	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.366G>T	p.Arg122Ser	p.R122S	ENST00000290231	4/8	172	92	80	135	135	0	strelka-varscan-mutect	NCOA5,missense_variant,p.Arg122Ser,ENST00000290231,NM_020967.2;NCOA5,missense_variant,p.Arg17Ser,ENST00000372291,;	A	ENST00000290231	Transcript	missense_variant,splice_region_variant	531/3220	366/1740	122/579	R/S	agG/agT		1		-1	NCOA5	HGNC	HGNC:15909	protein_coding	YES	CCDS13392.1	ENSP00000290231	Q9HCD5		UPI000000D7B2	NM_020967.2	tolerated(0.3)		4/8		hmmpanther:PTHR23295,hmmpanther:PTHR23295:SF3,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	46068638	46068638	C	A	1	0	0	0	0	1	0	0	0	10251	869	30	2		2	NCOA5	20	46068638	Missense_Mutation	SNP	C	C3N-02089_TP	1908570	46068638	18375529	1027	29824											
SNAI1	0	.	GRCh38	chr20	49987977	49987977	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaagaagtaccagtgccAggcgtgtgctcggaccttct	8	10	12	11	2	2	1	1	0	1	1	3	2	2	2	3	2	3	2	3	2	3	2	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.716A>T	p.Gln239Leu	p.Q239L	ENST00000244050	3/3	156	128	28	139	139	0	strelka-varscan-mutect	SNAI1,missense_variant,p.Gln239Leu,ENST00000244050,NM_005985.3;	T	ENST00000244050	Transcript	missense_variant	777/1686	716/795	239/264	Q/L	cAg/cTg		1		1	SNAI1	HGNC	HGNC:11128	protein_coding	YES	CCDS13423.1	ENSP00000244050	O95863		UPI0000135B17	NM_005985.3	deleterious(0.01)		3/3		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF41,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs1232707935	.												T	3	4	90	49987977	49987977	A	T	1	0	0	0	0	1	0	0	0	15147	188	7	4		4	SNAI1	20	49987977	Missense_Mutation	SNP	A	C3N-02089_TP	3919339	49987977	14456190	1028	29825											
ZFP64	0	.	GRCh38	chr20	52084601	52084601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcctcgagctgccccaCggagaccagggtgctgagct	7	5	16	13	2	0	2	0	1	0	1	1	5	0	3	4	3	5	3	4	3	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1894G>C	p.Val632Leu	p.V632L	ENST00000361387	9/9	150	116	34	139	139	0	strelka-varscan-mutect	ZFP64,missense_variant,p.Val632Leu,ENST00000361387,NM_199427.2;ZFP64,missense_variant,p.Val413Leu,ENST00000371523,NM_001319146.1;ZFP64,intron_variant,,ENST00000371518,;ZFP64,downstream_gene_variant,,ENST00000395989,;ZFP64,downstream_gene_variant,,ENST00000456175,;ZFP64,downstream_gene_variant,,ENST00000477786,;ZFP64,downstream_gene_variant,,ENST00000467811,;	G	ENST00000361387	Transcript	missense_variant	1955/2545	1894/1938	632/645	V/L	Gtg/Ctg		1		-1	ZFP64	HGNC	HGNC:15940	protein_coding		CCDS13439.1	ENSP00000355179	Q9NTW7		UPI000013C56C	NM_199427.2	tolerated_low_confidence(0.26)		9/9		hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF34																	MODERATE	1	SNV	1			1										PASS		rs1309773863	.												G	3	3	90	52084601	52084601	C	G	1	0	0	0	0	1	0	0	0	18228	536	19	4		4	ZFP64	20	52084601	Missense_Mutation	SNP	C	C3N-02089_TP	2096624	52084601	12359566	1029	29826											
PCK1	0	.	GRCh38	chr20	57565111	57565111	+	Missense_Mutation	SNP	G	G	T																															gggcggccatgagatcagagGccacagcggctgcagaacat																								novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1390G>T	p.Ala464Ser	p.A464S	ENST00000319441	9/10	191	177	14	164	164	0	strelka-varscan-mutect	PCK1,missense_variant,p.Ala464Ser,ENST00000319441,NM_002591.3;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,non_coding_transcript_exon_variant,,ENST00000485958,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,downstream_gene_variant,,ENST00000498194,;PCK1,downstream_gene_variant,,ENST00000470051,;	T	ENST00000319441	Transcript	missense_variant	1554/4341	1390/1869	464/622	A/S	Gcc/Tcc		1		1	PCK1	HGNC	HGNC:8724	protein_coding	YES	CCDS13460.1	ENSP00000319814	P35558		UPI000013CB5A	NM_002591.3	tolerated(0.33)		9/10		Low_complexity_(Seg):seg,HAMAP:MF_00452,hmmpanther:PTHR11561:SF1,hmmpanther:PTHR11561,Pfam_domain:PF00821,Gene3D:3.90.228.20,PIRSF_domain:PIRSF001348,Superfamily_domains:SSF53795																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	57565111	57565111	G	T	1	0	0	0	0	1	0	0	0	11669	1203	42	2		2	PCK1	20	57565111	Missense_Mutation	SNP	G	C3N-02089_TP	5480510	57565111	6879056	1030	29827	621	2									
PCK1	0	.	GRCh38	chr20	57565120	57565120	+	Missense_Mutation	SNP	G	G	C																															tgagatcagaggccacagcgGctgcagaacataaaggtaaa																								novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1399G>C	p.Ala467Pro	p.A467P	ENST00000319441	9/10	167	145	22	142	142	0	strelka-varscan-mutect	PCK1,missense_variant,p.Ala467Pro,ENST00000319441,NM_002591.3;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,non_coding_transcript_exon_variant,,ENST00000485958,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,downstream_gene_variant,,ENST00000498194,;PCK1,downstream_gene_variant,,ENST00000470051,;	C	ENST00000319441	Transcript	missense_variant	1563/4341	1399/1869	467/622	A/P	Gct/Cct		1		1	PCK1	HGNC	HGNC:8724	protein_coding	YES	CCDS13460.1	ENSP00000319814	P35558		UPI000013CB5A	NM_002591.3	deleterious(0)		9/10		Low_complexity_(Seg):seg,HAMAP:MF_00452,hmmpanther:PTHR11561:SF1,hmmpanther:PTHR11561,Pfam_domain:PF00821,Gene3D:3.90.228.20,PIRSF_domain:PIRSF001348,Superfamily_domains:SSF53795																	MODERATE	1	SNV	1			1										PASS		rs1358012223	.												C	3	2	90	57565120	57565120	G	C	1	0	0	0	0	1	0	0	0	11669	1203	42	4		4	PCK1	20	57565120	Missense_Mutation	SNP	G	C3N-02089_TP	9	57565120	6879047	1031	29828	621	2									
EDN3	0	.	GRCh38	chr20	59301644	59301644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaccaccgatccaggcGctgcacgtgcttcacctaca	9	7	9	16	3	1	1	1	1	0	0	2	2	2	1	4	1	4	4	4	1	1	2	rs141776410		C3N-02089_TP	C3N-02089_NB	G	G																c.287G>T	p.Arg96Leu	p.R96L	ENST00000337938	2/5	242	189	53	282	281	1	strelka-varscan-mutect	EDN3,missense_variant,p.Arg96Leu,ENST00000311585,NM_207032.2;EDN3,missense_variant,p.Arg96Leu,ENST00000337938,NM_001302455.1,NM_207034.2;EDN3,missense_variant,p.Arg96Leu,ENST00000371028,;EDN3,missense_variant,p.Arg96Leu,ENST00000395654,NM_207033.2;EDN3,missense_variant,p.Arg96Leu,ENST00000371025,NM_001302456.1;	T	ENST00000337938	Transcript	missense_variant	673/2636	287/717	96/238	R/L	cGc/cTc	rs141776410,COSM3740200,COSM3740201,COSM3740202	1		1	EDN3	HGNC	HGNC:3178	protein_coding	YES	CCDS13477.1	ENSP00000337128	P14138		UPI000012A221	NM_001302455.1,NM_207034.2	deleterious(0)		2/5		hmmpanther:PTHR13874,hmmpanther:PTHR13874:SF11,Pfam_domain:PF00322,SMART_domains:SM00272,Prints_domain:PR00365											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs141776410	.												T	3	4	90	59301644	59301644	G	T	1	0	0	0	0	1	0	0	0	4746	1087	38	1		1	EDN3	20	59301644	Missense_Mutation	SNP	G	C3N-02089_TP	1736524	59301644	5142523	1032	29829											
SYCP2	0	.	GRCh38	chr20	59865417	59865417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcctgtcttgcagcaCtttcatatcttctttcatca	10	15	5	11	0	6	1	3	0	3	1	6	1	6	1	1	0	3	2	1	0	3	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.4486G>T	p.Val1496Leu	p.V1496L	ENST00000357552	44/45	180	161	19	242	242	0	strelka-varscan-mutect	SYCP2,missense_variant,p.Val1496Leu,ENST00000357552,;SYCP2,missense_variant,p.Val1496Leu,ENST00000371001,NM_014258.2;SYCP2,missense_variant,p.Val182Leu,ENST00000412613,;	A	ENST00000357552	Transcript	missense_variant	4712/5567	4486/4593	1496/1530	V/L	Gtg/Ttg		1		-1	SYCP2	HGNC	HGNC:11490	protein_coding	YES	CCDS13482.1	ENSP00000350162	Q9BX26		UPI0000135683		tolerated(0.6)		44/45		hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	59865417	59865417	C	A	1	0	0	0	0	1	0	0	0	15822	565	20	2		2	SYCP2	20	59865417	Missense_Mutation	SNP	C	C3N-02089_TP	563773	59865417	4578750	1033	29830											
TCFL5	0	.	GRCh38	chr20	62842050	62842050	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaggagtccggtctggtCagctttagccttcggccagt	7	10	12	12	2	2	0	1	0	1	0	4	1	3	1	4	4	2	1	4	4	2	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1428G>T	p.=	p.L476L	ENST00000335351	6/6	286	245	41	282	282	0	strelka-varscan-mutect	TCFL5,synonymous_variant,p.=,ENST00000335351,NM_006602.3;COL9A3,downstream_gene_variant,,ENST00000343916,NM_001853.3;TCFL5,downstream_gene_variant,,ENST00000217162,;COL9A3,downstream_gene_variant,,ENST00000462700,;COL9A3,downstream_gene_variant,,ENST00000467819,;COL9A3,downstream_gene_variant,,ENST00000466532,;COL9A3,downstream_gene_variant,,ENST00000466192,;COL9A3,downstream_gene_variant,,ENST00000469802,;DPH3P1,upstream_gene_variant,,ENST00000486648,;	A	ENST00000335351	Transcript	synonymous_variant	1521/2456	1428/1503	476/500	L	ctG/ctT		1		-1	TCFL5	HGNC	HGNC:11646	protein_coding	YES	CCDS13506.1	ENSP00000334294	Q9UL49		UPI0000206389	NM_006602.3			6/6		hmmpanther:PTHR15402:SF2,hmmpanther:PTHR15402																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	62842050	62842050	C	A	1	0	0	0	0	0	0	0	1	16106	813	29	2		2	TCFL5	20	62842050	Silent	SNP	C	C3N-02089_TP	2976633	62842050	1602117	1034	29831											
COL20A1	0	.	GRCh38	chr20	63312827	63312827	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagccagctgtccatgacgGagctgccaggggatgcagtc	9	6	14	12	1	0	1	0	1	0	0	2	3	1	3	3	3	5	3	3	3	1	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1969G>T	p.Glu657Ter	p.E657*	ENST00000358894	16/36	82	69	13	59	59	0	strelka-varscan-mutect	COL20A1,stop_gained,p.Glu664Ter,ENST00000422202,;COL20A1,stop_gained,p.Glu657Ter,ENST00000358894,NM_020882.2;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;	T	ENST00000358894	Transcript	stop_gained	2069/4172	1969/3855	657/1284	E/*	Gag/Tag		1		1	COL20A1	HGNC	HGNC:14670	protein_coding	YES	CCDS46628.1	ENSP00000351767	Q9P218		UPI000051910D	NM_020882.2			16/36		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	90	63312827	63312827	G	T	1	0	0	0	0	0	1	0	0	3467	1175	41	2		2	COL20A1	20	63312827	Nonsense_Mutation	SNP	G	C3N-02089_TP	470777	63312827	1131340	1035	29832											
COL20A1	0	.	GRCh38	chr20	63328423	63328423	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccgggcactgagcccctgGggtcccctggcacccgcagc	5	4	14	18	2	0	1	0	1	0	0	1	1	1	1	6	4	3	3	6	4	0	0	rs752115346		C3N-02089_TP	C3N-02089_NB	G	G																c.3706G>T	p.Gly1236Trp	p.G1236W	ENST00000358894	34/36	311	196	115	178	177	1	strelka-varscan-mutect	COL20A1,missense_variant,p.Gly1249Trp,ENST00000422202,;COL20A1,missense_variant,p.Gly1236Trp,ENST00000358894,NM_020882.2;COL20A1,missense_variant,p.Gly377Trp,ENST00000415763,;COL20A1,missense_variant,p.Gly232Trp,ENST00000455906,;COL20A1,upstream_gene_variant,,ENST00000496810,;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;COL20A1,non_coding_transcript_exon_variant,,ENST00000471582,;COL20A1,non_coding_transcript_exon_variant,,ENST00000494913,;	T	ENST00000358894	Transcript	missense_variant	3806/4172	3706/3855	1236/1284	G/W	Ggg/Tgg	rs752115346,COSM4581978,COSM4581979,COSM4581980	1		1	COL20A1	HGNC	HGNC:14670	protein_coding	YES	CCDS46628.1	ENSP00000351767	Q9P218		UPI000051910D	NM_020882.2	deleterious(0)		34/36		hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF131											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs752115346	.												T	3	4	90	63328423	63328423	G	T	1	0	0	0	0	1	0	0	0	3467	1232	43	2		2	COL20A1	20	63328423	Missense_Mutation	SNP	G	C3N-02089_TP	15596	63328423	1115744	1036	29833											
CHRNA4	0	.	GRCh38	chr20	63350607	63350607	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttctcgccacactcggaGggcaggtagaagaccagcac	11	6	11	13	2	2	2	0	0	2	2	4	3	2	3	2	3	1	3	2	3	2	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.804C>A	p.=	p.P268P	ENST00000370263	5/6	666	549	117	436	436	0	strelka-varscan-mutect	CHRNA4,synonymous_variant,p.=,ENST00000615287,;CHRNA4,synonymous_variant,p.=,ENST00000370263,NM_001256573.1,NM_000744.6;CHRNA4,non_coding_transcript_exon_variant,,ENST00000463705,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000467563,;CHRNA4,downstream_gene_variant,,ENST00000628665,;CHRNA4,downstream_gene_variant,,ENST00000636652,;CHRNA4,downstream_gene_variant,,ENST00000637628,;CHRNA4,downstream_gene_variant,,ENST00000637243,;CHRNA4,3_prime_UTR_variant,,ENST00000627000,;CHRNA4,3_prime_UTR_variant,,ENST00000498043,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000630240,;CHRNA4,upstream_gene_variant,,ENST00000631289,;	T	ENST00000370263	Transcript	synonymous_variant	982/5577	804/1884	268/627	P	ccC/ccA		1		-1	CHRNA4	HGNC	HGNC:1958	protein_coding	YES	CCDS13517.1	ENSP00000359285	P43681		UPI000012523B	NM_001256573.1,NM_000744.6			5/6		Gene3D:1.20.120.370,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF401,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	63350607	63350607	G	T	1	0	0	0	0	0	0	0	1	3145	987	35	2		2	CHRNA4	20	63350607	Silent	SNP	G	C3N-02089_TP	22184	63350607	1093560	1037	29834											
CHRNA4	0	.	GRCh38	chr20	63359679	63359679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcctcggcgtgggcccGggtctccacatggctgctgg	2	8	15	16	4	1	0	0	0	1	0	4	0	2	0	4	5	1	3	4	5	0	0	rs370553755		C3N-02089_TP	C3N-02089_NB	G	G																c.97C>T	p.Arg33Trp	p.R33W	ENST00000370263	2/6	382	310	72	222	221	1	strelka-varscan-mutect	CHRNA4,missense_variant,p.Arg33Trp,ENST00000370263,NM_001256573.1,NM_000744.6;CHRNA4,5_prime_UTR_variant,,ENST00000615287,;RP11-261N11.8,upstream_gene_variant,,ENST00000370257,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000467563,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000628665,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000637443,;CHRNA4,intron_variant,,ENST00000463705,;CHRNA4,upstream_gene_variant,,ENST00000636652,;CHRNA4,upstream_gene_variant,,ENST00000636481,;CHRNA4,upstream_gene_variant,,ENST00000636726,;CHRNA4,upstream_gene_variant,,ENST00000637628,;CHRNA4,missense_variant,p.Arg33Trp,ENST00000627000,;CHRNA4,missense_variant,p.Arg8Trp,ENST00000498043,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000626188,;CHRNA4,upstream_gene_variant,,ENST00000627869,;CHRNA4,downstream_gene_variant,,ENST00000628606,;	A	ENST00000370263	Transcript	missense_variant	275/5577	97/1884	33/627	R/W	Cgg/Tgg	rs370553755	1		-1	CHRNA4	HGNC	HGNC:1958	protein_coding	YES	CCDS13517.1	ENSP00000359285	P43681		UPI000012523B	NM_001256573.1,NM_000744.6	tolerated(0.06)		2/6		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF401,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		rs370553755	.												A	3	1	90	63359679	63359679	G	A	1	0	0	0	0	1	0	0	0	3145	1115	39	1		1	CHRNA4	20	63359679	Missense_Mutation	SNP	G	C3N-02089_TP	9072	63359679	1084488	1038	29835											
ABHD16B	0	.	GRCh38	chr20	63861599	63861599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcaagatctacctgaccgCcagctacacctacccattcc	10	9	5	17	1	2	2	1	1	1	1	3	2	3	2	6	0	4	2	6	0	4	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.59C>T	p.Ala20Val	p.A20V	ENST00000369916	1/1	450	370	80	254	253	1	strelka-varscan-mutect	ABHD16B,missense_variant,p.Ala20Val,ENST00000369916,NM_080622.3;TPD52L2,upstream_gene_variant,,ENST00000217121,NM_199360.2;TPD52L2,upstream_gene_variant,,ENST00000352482,NM_199362.2;TPD52L2,upstream_gene_variant,,ENST00000615907,NM_001243895.1;TPD52L2,upstream_gene_variant,,ENST00000351424,NM_199361.2;TPD52L2,upstream_gene_variant,,ENST00000346249,NM_001243891.1,NM_003288.3;TPD52L2,upstream_gene_variant,,ENST00000358548,NM_199363.2;TPD52L2,upstream_gene_variant,,ENST00000348257,NM_199359.2;TPD52L2,upstream_gene_variant,,ENST00000611972,NM_001243894.1;TPD52L2,upstream_gene_variant,,ENST00000369927,NM_001243892.1;RP4-591C20.9,non_coding_transcript_exon_variant,,ENST00000601296,;	T	ENST00000369916	Transcript	missense_variant	102/1491	59/1410	20/469	A/V	gCc/gTc		1		1	ABHD16B	HGNC	HGNC:16128	protein_coding	YES	CCDS13539.1	ENSP00000358932	Q9H3Z7		UPI000012860E	NM_080622.3	deleterious(0)		1/1		hmmpanther:PTHR12277:SF37,hmmpanther:PTHR12277																	MODERATE		SNV				1										PASS		.	.												T	3	4	90	63861599	63861599	C	T	1	0	0	0	0	1	0	0	0	87	739	26	3		3	ABHD16B	20	63861599	Missense_Mutation	SNP	C	C3N-02089_TP	501920	63861599	582568	1039	29836											
CHODL	0	.	GRCh38	chr21	18257053	18257053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aactgccaatcctggccttgGgggtccctacctttaccagt	7	11	9	14	0	0	0	0	0	0	0	2	0	2	0	6	3	4	0	6	3	4	4	rs762990377		C3N-02089_TP	C3N-02089_NB	G	G																c.473G>T	p.Gly158Val	p.G158V	ENST00000299295	3/6	113	82	31	126	126	0	strelka-varscan-mutect	CHODL,missense_variant,p.Gly158Val,ENST00000299295,NM_024944.2;CHODL,missense_variant,p.Gly117Val,ENST00000400128,;CHODL,missense_variant,p.Gly117Val,ENST00000400127,NM_001204176.1,NM_001204175.1;CHODL,missense_variant,p.Gly117Val,ENST00000400135,NM_001204178.1;CHODL,missense_variant,p.Gly117Val,ENST00000400131,NM_001204177.1;CHODL,missense_variant,p.Gly117Val,ENST00000338326,;CHODL,missense_variant,p.Gly139Val,ENST00000543733,NM_001204174.1;	T	ENST00000299295	Transcript	missense_variant	864/2548	473/822	158/273	G/V	gGg/gTg	rs762990377	1		1	CHODL	HGNC	HGNC:17807	protein_coding	YES	CCDS13570.1	ENSP00000299295	Q9H9P2		UPI0000037746	NM_024944.2	deleterious(0)		3/6		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR14789,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		rs762990377	.												T	3	4	90	18257053	18257053	G	T	1	0	0	0	0	1	0	0	0	3124	1232	43	2		2	CHODL	21	18257053	Missense_Mutation	SNP	G	C3N-02089_TP		18257053	28452930	1040	29837											
LTN1	0	.	GRCh38	chr21	28969514	28969514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcctcacctaagttttgCtgcattataaaacgtaagca	12	14	5	10	1	2	0	1	0	1	0	3	0	3	0	2	0	4	5	2	0	5	7	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1401G>T	p.Gln467His	p.Q467H	ENST00000614971	9/30	123	99	24	179	179	0	strelka-varscan-mutect	LTN1,missense_variant,p.Gln467His,ENST00000614971,NM_015565.2;LTN1,missense_variant,p.Gln467His,ENST00000389194,;LTN1,missense_variant,p.Gln421His,ENST00000361371,;LTN1,missense_variant,p.Gln467His,ENST00000389195,;LTN1,missense_variant,p.Gln350His,ENST00000483326,;	A	ENST00000614971	Transcript	missense_variant	1414/7756	1401/5439	467/1812	Q/H	caG/caT		1		-1	LTN1	HGNC	HGNC:13082	protein_coding	YES	CCDS33527.2	ENSP00000478783	O94822		UPI000049DF6C	NM_015565.2	tolerated(0.47)		9/30		hmmpanther:PTHR12389,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	28969514	28969514	C	A	1	0	0	0	0	1	0	0	0	8987	796	28	2		2	LTN1	21	28969514	Missense_Mutation	SNP	C	C3N-02089_TP	10712461	28969514	17740469	1041	29838											
TIAM1	0	.	GRCh38	chr21	31266909	31266909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgggaagtgtgcttgcgccCcaggctggcatgcttttctc	4	11	14	12	2	1	0	0	0	1	0	2	1	1	1	2	3	3	4	2	3	1	3			C3N-02089_TP	C3N-02089_NB	C	C																c.64G>T	p.Gly22Trp	p.G22W	ENST00000286827	5/29	101	71	30	89	89	0	strelka-mutect	TIAM1,missense_variant,p.Gly22Trp,ENST00000286827,NM_003253.2;TIAM1,missense_variant,p.Gly22Trp,ENST00000541036,;TIAM1,missense_variant,p.Gly22Trp,ENST00000455508,;TIAM1,intron_variant,,ENST00000469412,;	A	ENST00000286827	Transcript	missense_variant	536/7200	64/4776	22/1591	G/W	Ggg/Tgg	COSM1681930,COSM1681931	1		-1	TIAM1	HGNC	HGNC:11805	protein_coding	YES	CCDS13609.1	ENSP00000286827	Q13009		UPI000013DE6F	NM_003253.2	deleterious_low_confidence(0)		5/29		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF88											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	90	31266909	31266909	C	A	1	0	0	0	0	1	0	0	0	16324	623	22	2		2	TIAM1	21	31266909	Missense_Mutation	SNP	C	C3N-02089_TP	2297395	31266909	15443074	1042	29839											
PAXBP1	0	.	GRCh38	chr21	32734960	32734960	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatagatctattttcctTcgatcaaagacttaaattct	12	17	3	9	1	4	2	2	0	3	2	7	3	5	2	1	0	0	0	1	0	5	7	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.2744A>C	p.Glu915Ala	p.E915A	ENST00000331923	18/18	275	235	40	304	304	0	strelka-varscan-mutect	PAXBP1,missense_variant,p.Glu915Ala,ENST00000331923,NM_016631.3;PAXBP1-AS1,intron_variant,,ENST00000440052,;PAXBP1-AS1,intron_variant,,ENST00000455170,;PAXBP1-AS1,downstream_gene_variant,,ENST00000458479,;PAXBP1,3_prime_UTR_variant,,ENST00000443785,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000466846,;PAXBP1,non_coding_transcript_exon_variant,,ENST00000497873,;	G	ENST00000331923	Transcript	missense_variant	2934/3995	2744/2754	915/917	E/A	gAa/gCa		1		-1	PAXBP1	HGNC	HGNC:13579	protein_coding	YES	CCDS13619.1	ENSP00000328992	Q9Y5B6		UPI000012B294	NM_016631.3	deleterious(0.02)		18/18		hmmpanther:PTHR12214:SF2,hmmpanther:PTHR12214																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	32734960	32734960	T	G	1	0	0	0	0	1	0	0	0	11572	1783	62	5		5	PAXBP1	21	32734960	Missense_Mutation	SNP	T	C3N-02089_TP	1468051	32734960	13975023	1043	29840											
OLIG1	0	.	GRCh38	chr21	33070255	33070255	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcctcccagatgtactaTgcggtttcccaggcgcgcgt	6	9	11	15	5	0	1	0	0	0	1	2	1	2	1	4	2	2	2	4	2	2	3	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.9T>A	p.Tyr3Ter	p.Y3*	ENST00000382348	1/1	98	76	22	79	79	0	strelka-varscan-mutect	OLIG1,stop_gained,p.Tyr3Ter,ENST00000382348,NM_138983.2;OLIG1,upstream_gene_variant,,ENST00000426947,;AP000282.2,intron_variant,,ENST00000454622,;OLIG1,upstream_gene_variant,,ENST00000498799,;	A	ENST00000382348	Transcript	stop_gained	112/2277	9/816	3/271	Y/*	taT/taA		1		1	OLIG1	HGNC	HGNC:16983	protein_coding	YES	CCDS42920.2	ENSP00000371785	Q8TAK6		UPI0000130C80	NM_138983.2			1/1																			HIGH		SNV				1										PASS		.	.												A	4	1	90	33070255	33070255	T	A	1	0	0	0	0	0	1	0	0	10935	1471	51	4		4	OLIG1	21	33070255	Nonsense_Mutation	SNP	T	C3N-02089_TP	335295	33070255	13639728	1044	29841											
BRWD1	0	.	GRCh38	chr21	39278752	39278752	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagttcttaccaacactaaAagaagaacaaagcatttgaa	20	8	6	7	0	1	3	0	1	1	2	1	4	1	3	1	0	4	2	1	0	9	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.994T>C	p.Phe332Leu	p.F332L	ENST00000333229	10/42	78	60	18	100	100	0	strelka-varscan-mutect	BRWD1,missense_variant,p.Phe332Leu,ENST00000342449,NM_033656.3;BRWD1,missense_variant,p.Phe332Leu,ENST00000333229,NM_018963.4;BRWD1,missense_variant,p.Phe332Leu,ENST00000380800,;BRWD1,missense_variant,p.Phe44Leu,ENST00000455867,;BRWD1,missense_variant,p.Phe44Leu,ENST00000412604,;BRWD1,missense_variant,p.Phe44Leu,ENST00000445245,;BRWD1,missense_variant,p.Phe44Leu,ENST00000430093,;BRWD1,missense_variant,p.Phe44Leu,ENST00000445668,;BRWD1,non_coding_transcript_exon_variant,,ENST00000496759,;	G	ENST00000333229	Transcript	missense_variant	1322/10141	994/6963	332/2320	F/L	Ttt/Ctt		1		-1	BRWD1	HGNC	HGNC:12760	protein_coding	YES	CCDS13662.1	ENSP00000330753	Q9NSI6		UPI0000163C12	NM_018963.4	deleterious(0)		10/42		PROSITE_profiles:PS50294,hmmpanther:PTHR16266:SF26,hmmpanther:PTHR16266,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	39278752	39278752	A	G	1	0	0	0	0	1	0	0	0	1699	14	1	5		5	BRWD1	21	39278752	Missense_Mutation	SNP	A	C3N-02089_TP	6208497	39278752	7431231	1045	29842											
B3GALT5	0	.	GRCh38	chr21	39661160	39661160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcagcaagtggtttgtcAgtaaatctgaatatccgtgg	11	13	10	7	1	3	1	2	1	1	0	4	1	4	1	1	2	1	3	1	2	5	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.613A>G	p.Ser205Gly	p.S205G	ENST00000398714	2/2	98	79	19	108	108	0	strelka-varscan-mutect	B3GALT5,missense_variant,p.Ser201Gly,ENST00000380620,;B3GALT5,missense_variant,p.Ser201Gly,ENST00000380618,NM_006057.2,NM_033170.2,NM_033171.2;B3GALT5,missense_variant,p.Ser201Gly,ENST00000615480,NM_001278650.1;B3GALT5,missense_variant,p.Ser201Gly,ENST00000343118,;B3GALT5,missense_variant,p.Ser205Gly,ENST00000398714,NM_033172.2;AF064860.5,intron_variant,,ENST00000416555,;	G	ENST00000398714	Transcript	missense_variant	613/2341	613/945	205/314	S/G	Agt/Ggt		1		1	B3GALT5	HGNC	HGNC:920	protein_coding	YES	CCDS74795.1	ENSP00000381699		A0A0A0MS93	UPI000354A018	NM_033172.2	deleterious(0.01)		2/2		hmmpanther:PTHR11214:SF18,hmmpanther:PTHR11214,Pfam_domain:PF01762																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	90	39661160	39661160	A	G	1	0	0	0	0	1	0	0	0	1407	188	7	5		5	B3GALT5	21	39661160	Missense_Mutation	SNP	A	C3N-02089_TP	382408	39661160	7048823	1046	29843											
DSCAM	0	.	GRCh38	chr21	40013372	40013372	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattctaaggtatggaggcaAatgtatgaggtcacctagaa	14	10	11	6	0	2	2	1	1	1	1	2	3	2	3	1	4	0	3	1	4	6	5	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.5701T>G	p.Leu1901Val	p.L1901V	ENST00000400454	33/33	39	34	5	42	42	0	strelka-varscan-mutect	DSCAM,missense_variant,p.Leu1901Val,ENST00000400454,NM_001389.3,NM_001271534.1;DSCAM,missense_variant,p.Leu1736Val,ENST00000617870,;DSCAM,intron_variant,,ENST00000404019,;	C	ENST00000400454	Transcript	missense_variant	6179/8552	5701/6039	1901/2012	L/V	Ttg/Gtg		1		-1	DSCAM	HGNC	HGNC:3039	protein_coding	YES	CCDS42929.1	ENSP00000383303	O60469		UPI00000422DF	NM_001389.3,NM_001271534.1	deleterious_low_confidence(0)		33/33		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	40013372	40013372	A	C	1	0	0	0	0	1	0	0	0	4589	11	1	5		5	DSCAM	21	40013372	Missense_Mutation	SNP	A	C3N-02089_TP	352212	40013372	6696611	1047	29844											
POTEH	0	.	GRCh38	chr22	15719721	15719721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacactggaatattacaaGatgagattctgattcatgaa	17	11	8	5	0	2	5	1	3	1	3	2	7	2	6	0	1	2	0	0	1	6	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1582G>T	p.Asp528Tyr	p.D528Y	ENST00000343518	10/11	33	25	8	37	37	0	varscan-mutect	POTEH,missense_variant,p.Asp528Tyr,ENST00000343518,NM_001136213.1;POTEH,missense_variant,p.Asp491Tyr,ENST00000621704,;POTEH,3_prime_UTR_variant,,ENST00000452800,;LA16c-3G11.7,upstream_gene_variant,,ENST00000417657,;	T	ENST00000343518	Transcript	missense_variant	1634/1928	1582/1638	528/545	D/Y	Gat/Tat		1		1	POTEH	HGNC	HGNC:133	protein_coding	YES	CCDS74808.1	ENSP00000340610	Q6S545		UPI0000E5A425	NM_001136213.1	deleterious_low_confidence(0)		10/11		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	15719721	15719721	G	T	1	0	0	0	0	1	0	0	0	12381	942	33	2		2	POTEH	22	15719721	Missense_Mutation	SNP	G	C3N-02089_TP		15719721	35098747	1048	29845											
CECR1	0	.	GRCh38	chr22	17191754	17191754	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacttctgagctacttcCtggtaagtcttcactgacca	11	12	6	12	0	3	2	1	2	2	0	4	2	4	2	2	1	3	2	2	1	3	5	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.810G>A	p.=	p.Q270Q	ENST00000399837	5/10	189	174	15	159	159	0	strelka-varscan-mutect	CECR1,synonymous_variant,p.=,ENST00000399837,NM_001282226.1,NM_001282225.1;CECR1,synonymous_variant,p.=,ENST00000449907,NM_001282228.1,NM_001282227.1;CECR1,synonymous_variant,p.=,ENST00000610390,NM_001282229.1;CECR1,synonymous_variant,p.=,ENST00000399839,;CECR1,synonymous_variant,p.=,ENST00000262607,;CECR1,synonymous_variant,p.=,ENST00000330232,NM_177405.2;CECR1,non_coding_transcript_exon_variant,,ENST00000480276,;CECR1,upstream_gene_variant,,ENST00000469063,;AC005300.5,upstream_gene_variant,,ENST00000428401,;	T	ENST00000399837	Transcript	synonymous_variant	1086/4505	810/1536	270/511	Q	caG/caA		1		-1	CECR1	HGNC	HGNC:1839	protein_coding	YES	CCDS13742.1	ENSP00000382731	Q9NZK5		UPI000013D2E8	NM_001282226.1,NM_001282225.1			5/10		hmmpanther:PTHR11409,hmmpanther:PTHR11409:SF39,Pfam_domain:PF00962,Gene3D:3.20.20.140,TIGRFAM_domain:TIGR01431,Superfamily_domains:SSF51556																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	17191754	17191754	C	T	1	0	0	0	0	0	0	0	1	2912	680	24	3		3	CECR1	22	17191754	Silent	SNP	C	C3N-02089_TP	1472033	17191754	33626714	1049	29846											
MICAL3	0	.	GRCh38	chr22	17818199	17818199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggtggcgggcaagggcgGcgggaccaccgaggcattgg	7	3	20	11	4	0	0	0	0	0	0	0	2	0	1	3	8	0	2	3	8	1	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.4462C>T	p.Pro1488Ser	p.P1488S	ENST00000441493	26/32	127	99	28	107	106	1	strelka-varscan-mutect	MICAL3,missense_variant,p.Pro1488Ser,ENST00000441493,NM_015241.2;MICAL3,upstream_gene_variant,,ENST00000577821,;MICAL3,downstream_gene_variant,,ENST00000498573,;MICAL3,downstream_gene_variant,,ENST00000578984,;MICAL3,upstream_gene_variant,,ENST00000579997,;MICAL3,upstream_gene_variant,,ENST00000580469,;	A	ENST00000441493	Transcript	missense_variant	4815/9445	4462/6009	1488/2002	P/S	Ccg/Tcg		1		-1	MICAL3	HGNC	HGNC:24694	protein_coding	YES	CCDS46659.1	ENSP00000416015	Q7RTP6		UPI0001823FDE	NM_015241.2	tolerated_low_confidence(0.08)		26/32		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF239																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	17818199	17818199	G	A	1	0	0	0	0	1	0	0	0	9528	1203	42	3		3	MICAL3	22	17818199	Missense_Mutation	SNP	G	C3N-02089_TP	626445	17818199	33000269	1050	29847											
CDC45	0	.	GRCh38	chr22	19518882	19518882	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatcggagcaagtttctgGacgcacttatttccctcctg	8	12	10	11	2	1	0	0	0	1	0	4	3	3	3	2	3	1	3	2	3	2	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1771G>T	p.Asp591Tyr	p.D591Y	ENST00000437685	19/20	358	285	73	262	261	1	strelka-varscan-mutect	CDC45,missense_variant,p.Asp559Tyr,ENST00000407835,;CDC45,missense_variant,p.Asp591Tyr,ENST00000437685,NM_001178010.2;CDC45,missense_variant,p.Asp559Tyr,ENST00000263201,NM_003504.4;CDC45,missense_variant,p.Asp513Tyr,ENST00000404724,NM_001178011.2;CLDN5,downstream_gene_variant,,ENST00000406028,;CLDN5,downstream_gene_variant,,ENST00000403084,NM_001130861.1;CLDN5,downstream_gene_variant,,ENST00000413119,NM_003277.3;CLDN5,downstream_gene_variant,,ENST00000618236,;CDC45,non_coding_transcript_exon_variant,,ENST00000493724,;CDC45,downstream_gene_variant,,ENST00000471470,;	T	ENST00000437685	Transcript	missense_variant	1914/2072	1771/1797	591/598	D/Y	Gac/Tac		1		1	CDC45	HGNC	HGNC:1739	protein_coding	YES	CCDS54499.1	ENSP00000405726	O75419		UPI000042153E	NM_001178010.2	deleterious(0)		19/20		Pfam_domain:PF02724,hmmpanther:PTHR10507,hmmpanther:PTHR10507:SF0																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	90	19518882	19518882	G	T	1	0	0	0	0	1	0	0	0	2784	1174	41	2		2	CDC45	22	19518882	Missense_Mutation	SNP	G	C3N-02089_TP	1700683	19518882	31299586	1051	29848											
GGTLC2	0	.	GRCh38	chr22	22647148	22647148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctgcacagcccccaaGccatgctgatcacactccca	10	5	5	21	0	1	1	1	1	0	0	2	1	2	1	6	0	4	2	6	0	1	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.368G>A	p.Ser123Asn	p.S123N	ENST00000480559	4/5	525	412	113	452	452	0	strelka-varscan-mutect	GGTLC2,missense_variant,p.Ser123Asn,ENST00000480559,NM_199127.2;GGTLC2,intron_variant,,ENST00000618722,NM_001282879.1;GGTLC2,intron_variant,,ENST00000613850,;GGTLC2,intron_variant,,ENST00000448514,;POM121L1P,upstream_gene_variant,,ENST00000402027,;GGTLC2,non_coding_transcript_exon_variant,,ENST00000417145,;POM121L1P,upstream_gene_variant,,ENST00000605258,;	A	ENST00000480559	Transcript	missense_variant	368/657	368/657	123/218	S/N	aGc/aAc		1		1	GGTLC2	HGNC	HGNC:18596	protein_coding	YES	CCDS13802.2	ENSP00000419751	Q14390		UPI00004210AD	NM_199127.2	tolerated(0.06)		4/5		hmmpanther:PTHR11686:SF28,hmmpanther:PTHR11686,Pfam_domain:PF01019,Superfamily_domains:SSF56235																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	22647148	22647148	G	A	1	0	0	0	0	1	0	0	0	6243	971	34	3		3	GGTLC2	22	22647148	Missense_Mutation	SNP	G	C3N-02089_TP	3128266	22647148	28171320	1052	29849											
IGLL1	0	.	GRCh38	chr22	23575022	23575022	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtcactgagttatgcttGgattgaaacccccggggcca	8	10	12	11	2	1	2	1	2	0	0	1	3	1	3	3	3	3	2	3	3	2	3	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.267C>G	p.=	p.S89S	ENST00000330377	2/3	454	418	36	327	327	0	strelka-varscan-mutect	IGLL1,synonymous_variant,p.=,ENST00000330377,NM_020070.3;IGLL1,synonymous_variant,p.=,ENST00000438703,;IGLL1,intron_variant,,ENST00000249053,NM_152855.2;AP000345.2,downstream_gene_variant,,ENST00000454863,;AP000345.2,downstream_gene_variant,,ENST00000458318,;	C	ENST00000330377	Transcript	synonymous_variant	385/901	267/642	89/213	S	tcC/tcG		1		-1	IGLL1	HGNC	HGNC:5870	protein_coding	YES	CCDS13809.1	ENSP00000329312	P15814		UPI0000119C23	NM_020070.3			2/3		hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF124																	LOW	1	SNV	1			1										PASS		rs1249165621	.												C	2	2	90	23575022	23575022	G	C	1	0	0	0	0	0	0	0	1	7500	1335	47	4		4	IGLL1	22	23575022	Silent	SNP	G	C3N-02089_TP	927874	23575022	27243446	1053	29850											
C22orf15	0	.	GRCh38	chr22	23764139	23764139	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggctggtgaacctcaccgcCcacctgaggcagaaagcagg	11	4	13	13	1	1	3	1	2	0	1	1	3	1	3	4	4	2	3	4	4	2	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.78C>A	p.=	p.A26A	ENST00000402217	2/6	276	223	53	261	261	0	strelka-varscan-mutect	C22orf15,synonymous_variant,p.=,ENST00000402217,NM_182520.2;C22orf15,synonymous_variant,p.=,ENST00000305199,;C22orf15,synonymous_variant,p.=,ENST00000382821,;CHCHD10,downstream_gene_variant,,ENST00000484558,NM_213720.2;CHCHD10,downstream_gene_variant,,ENST00000401675,NM_001301339.1;CHCHD10,downstream_gene_variant,,ENST00000520222,;MMP11,upstream_gene_variant,,ENST00000477567,;MMP11,upstream_gene_variant,,ENST00000489582,;C22orf15,non_coding_transcript_exon_variant,,ENST00000477921,;C22orf15,non_coding_transcript_exon_variant,,ENST00000498542,;MMP11,upstream_gene_variant,,ENST00000465385,;CHCHD10,downstream_gene_variant,,ENST00000517886,;CHCHD10,downstream_gene_variant,,ENST00000523865,;	A	ENST00000402217	Transcript	synonymous_variant	331/829	78/447	26/148	A	gcC/gcA		1		1	C22orf15	HGNC	HGNC:15558	protein_coding	YES	CCDS13814.2	ENSP00000384965	Q8WYQ4		UPI0000072091	NM_182520.2			2/6		Pfam_domain:PF15874,hmmpanther:PTHR33887,hmmpanther:PTHR33887:SF1																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	90	23764139	23764139	C	A	1	0	0	0	0	0	0	0	1	2017	610	22	2		2	C22orf15	22	23764139	Silent	SNP	C	C3N-02089_TP	189117	23764139	27054329	1054	29851											
PIWIL3	0	.	GRCh38	chr22	24756517	24756517	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttagtggccgagataataAtaaagagtttccatcaaata	16	13	7	5	1	1	2	1	0	0	2	2	3	2	2	2	1	0	1	2	1	7	7	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.544T>G	p.Leu182Val	p.L182V	ENST00000332271	5/21	221	196	25	194	194	0	strelka-varscan-mutect	PIWIL3,missense_variant,p.Leu182Val,ENST00000332271,NM_001255975.1,NM_001008496.3;PIWIL3,missense_variant,p.Leu73Val,ENST00000533313,;PIWIL3,missense_variant,p.Leu182Val,ENST00000616349,;PIWIL3,missense_variant,p.Leu73Val,ENST00000527701,;PIWIL3,non_coding_transcript_exon_variant,,ENST00000532537,;	C	ENST00000332271	Transcript	missense_variant	961/3504	544/2649	182/882	L/V	Tta/Gta		1		-1	PIWIL3	HGNC	HGNC:18443	protein_coding	YES	CCDS33623.1	ENSP00000330031	Q7Z3Z3		UPI00002073D6	NM_001255975.1,NM_001008496.3	deleterious(0.01)		5/21		hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF41,Superfamily_domains:SSF101690																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	24756517	24756517	A	C	1	0	0	0	0	1	0	0	0	12055	98	4	5		5	PIWIL3	22	24756517	Missense_Mutation	SNP	A	C3N-02089_TP	992378	24756517	26061951	1055	29852											
MYO18B	0	.	GRCh38	chr22	25992395	25992395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggaacttgcagcagtgagGcaaaccctccagacagacct	13	5	11	12	0	0	3	0	1	0	2	1	5	1	4	3	2	4	3	3	2	2	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.6189G>T	p.Arg2063Ser	p.R2063S	ENST00000335473	40/44	192	154	38	143	143	0	strelka-varscan-mutect	MYO18B,missense_variant,p.Arg2063Ser,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,missense_variant,p.Arg2064Ser,ENST00000407587,;MYO18B,missense_variant,p.Arg2063Ser,ENST00000536101,;MYO18B,missense_variant,p.Arg28Ser,ENST00000543971,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	T	ENST00000335473	Transcript	missense_variant	6439/8565	6189/7704	2063/2567	R/S	agG/agT		1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5	deleterious(0.01)		40/44		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	25992395	25992395	G	T	1	0	0	0	0	1	0	0	0	10067	1194	42	2		2	MYO18B	22	25992395	Missense_Mutation	SNP	G	C3N-02089_TP	1235878	25992395	24826073	1056	29853											
SEZ6L	0	.	GRCh38	chr22	26292738	26292738	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctccgcagccactgtcCaaagggcagggtcccagcca	9	4	10	18	1	0	0	0	0	0	0	3	0	3	0	7	2	2	2	7	2	1	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.427C>A	p.Gln143Lys	p.Q143K	ENST00000248933	2/17	340	262	78	249	249	0	strelka-varscan-mutect	SEZ6L,missense_variant,p.Gln143Lys,ENST00000529632,NM_001184775.1;SEZ6L,missense_variant,p.Gln143Lys,ENST00000360929,NM_001184776.1;SEZ6L,missense_variant,p.Gln143Lys,ENST00000404234,NM_001184773.1;SEZ6L,missense_variant,p.Gln143Lys,ENST00000248933,NM_021115.4;SEZ6L,missense_variant,p.Gln143Lys,ENST00000629590,NM_001184774.1;SEZ6L,missense_variant,p.Gln143Lys,ENST00000343706,NM_001184777.1;SEZ6L,5_prime_UTR_variant,,ENST00000402979,;SEZ6L,5_prime_UTR_variant,,ENST00000403121,;	A	ENST00000248933	Transcript	missense_variant	522/3248	427/3075	143/1024	Q/K	Caa/Aaa		1		1	SEZ6L	HGNC	HGNC:10763	protein_coding	YES	CCDS13833.1	ENSP00000248933	Q9BYH1		UPI0000136779	NM_021115.4	tolerated_low_confidence(0.09)		2/17																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	26292738	26292738	C	A	1	0	0	0	0	1	0	0	0	14422	595	21	2		2	SEZ6L	22	26292738	Missense_Mutation	SNP	C	C3N-02089_TP	300343	26292738	24525730	1057	29854											
AP1B1	0	.	GRCh38	chr22	29356599	29356599	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatttctgagagcgctgcCactgcattggccaccacctg	8	9	10	14	1	1	1	0	1	1	1	1	2	1	1	4	1	3	3	4	1	1	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.543G>T	p.=	p.V181V	ENST00000357586	6/23	82	66	16	66	66	0	strelka-varscan-mutect	AP1B1,synonymous_variant,p.=,ENST00000357586,NM_001127.3;AP1B1,synonymous_variant,p.=,ENST00000432560,NM_145730.2;AP1B1,synonymous_variant,p.=,ENST00000317368,NM_001166019.1;AP1B1,synonymous_variant,p.=,ENST00000405198,;AP1B1,synonymous_variant,p.=,ENST00000402502,;AP1B1,synonymous_variant,p.=,ENST00000415447,;AP1B1,synonymous_variant,p.=,ENST00000421126,;AP1B1,upstream_gene_variant,,ENST00000415756,;AP1B1,downstream_gene_variant,,ENST00000473606,;	A	ENST00000357586	Transcript	synonymous_variant	730/4176	543/2850	181/949	V	gtG/gtT		1		-1	AP1B1	HGNC	HGNC:554	protein_coding	YES	CCDS13855.1	ENSP00000350199	Q10567		UPI0000124FE1	NM_001127.3			6/23		Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF002291,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF12,SMART_domains:SM00185,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	90	29356599	29356599	C	A	1	0	0	0	0	0	0	0	1	847	581	21	2		2	AP1B1	22	29356599	Silent	SNP	C	C3N-02089_TP	3063861	29356599	21461869	1058	29855											
CSF2RB	0	.	GRCh38	chr22	36937979	36937979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtattcaccccaaactcagGggcctcgtctgtctccctag	7	10	9	15	1	4	0	2	0	2	0	6	0	4	0	4	3	1	1	4	3	3	3	rs369609939		C3N-02089_TP	C3N-02089_NB	G	G																c.2171G>T	p.Gly724Val	p.G724V	ENST00000403662	14/14	572	424	148	505	502	3	strelka-varscan-mutect	CSF2RB,missense_variant,p.Gly724Val,ENST00000403662,NM_000395.2;CSF2RB,missense_variant,p.Gly724Val,ENST00000262825,;CSF2RB,missense_variant,p.Gly730Val,ENST00000406230,;	T	ENST00000403662	Transcript	missense_variant	2393/4863	2171/2694	724/897	G/V	gGg/gTg	rs369609939,COSM3554031	1		1	CSF2RB	HGNC	HGNC:2436	protein_coding	YES	CCDS13936.1	ENSP00000384053	P32927		UPI0000128C9F	NM_000395.2	deleterious(0.04)		14/14		Low_complexity_(Seg):seg,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF22,PIRSF_domain:PIRSF001956											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs369609939	.												T	3	4	90	36937979	36937979	G	T	1	0	0	0	0	1	0	0	0	3736	1232	43	2		2	CSF2RB	22	36937979	Missense_Mutation	SNP	G	C3N-02089_TP	7581380	36937979	13880489	1059	29856											
C1QTNF6	0	.	GRCh38	chr22	37182576	37182576	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgtgcagggccgtcttgCggcccactgagaaggcgaag	7	6	16	12	4	1	1	0	1	1	1	1	3	1	1	2	3	2	2	2	3	2	1	rs755754179		C3N-02089_TP	C3N-02089_NB	C	C																c.449G>C	p.Arg150Pro	p.R150P	ENST00000337843	3/3	236	158	78	236	236	0	strelka-varscan-mutect	C1QTNF6,missense_variant,p.Arg150Pro,ENST00000337843,NM_031910.3;C1QTNF6,missense_variant,p.Arg150Pro,ENST00000397110,NM_182486.1;C1QTNF6,3_prime_UTR_variant,,ENST00000434784,;RP1-151B14.6,non_coding_transcript_exon_variant,,ENST00000419128,;C1QTNF6,non_coding_transcript_exon_variant,,ENST00000470655,;C1QTNF6,non_coding_transcript_exon_variant,,ENST00000493023,;	G	ENST00000337843	Transcript	missense_variant	525/2934	449/837	150/278	R/P	cGc/cCc	rs755754179	1		-1	C1QTNF6	HGNC	HGNC:14343	protein_coding	YES	CCDS13943.1	ENSP00000338812	Q9BXI9	A0A024R1J0	UPI0000035BB4	NM_031910.3	deleterious(0)		3/3		PROSITE_profiles:PS50871,hmmpanther:PTHR22923,hmmpanther:PTHR22923:SF54,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842																	MODERATE	1	SNV	1			1										PASS		rs755754179	.												G	3	3	90	37182576	37182576	C	G	1	0	0	0	0	1	0	0	0	1945	768	27	4		4	C1QTNF6	22	37182576	Missense_Mutation	SNP	C	C3N-02089_TP	244597	37182576	13635892	1060	29857											
ELFN2	0	.	GRCh38	chr22	37373782	37373782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggctgaggaggcggcagCagctgcagggagggactggc	8	4	21	8	1	0	1	0	1	0	0	0	4	0	4	0	7	3	5	0	7	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1753G>T	p.Ala585Ser	p.A585S	ENST00000402918	3/3	80	59	21	107	105	2	strelka-varscan-mutect	ELFN2,missense_variant,p.Ala585Ser,ENST00000402918,NM_052906.4;ELFN2,missense_variant,p.Ala585Ser,ENST00000613079,;ELFN2,intron_variant,,ENST00000430883,;ELFN2,intron_variant,,ENST00000452946,;RP1-63G5.8,downstream_gene_variant,,ENST00000609322,;ELFN2,downstream_gene_variant,,ENST00000435824,;ELFN2,downstream_gene_variant,,ENST00000415408,;ELFN2,downstream_gene_variant,,ENST00000414347,;ELFN2,downstream_gene_variant,,ENST00000451509,;ELFN2,downstream_gene_variant,,ENST00000424973,;	A	ENST00000402918	Transcript	missense_variant	2539/8361	1753/2463	585/820	A/S	Gct/Tct		1		-1	ELFN2	HGNC	HGNC:29396	protein_coding	YES	CCDS33642.1	ENSP00000385277	Q5R3F8		UPI000004E87D	NM_052906.4	tolerated(1)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR24367:SF248,hmmpanther:PTHR24367																	MODERATE		SNV	4			1										PASS		.	.												A	3	1	90	37373782	37373782	C	A	1	0	0	0	0	1	0	0	0	4892	710	25	2		2	ELFN2	22	37373782	Missense_Mutation	SNP	C	C3N-02089_TP	191206	37373782	13444686	1061	29858											
GCAT	0	.	GRCh38	chr22	37809972	37809972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcactgtcatctttccaGgcctgcccttgccccacctg	4	11	8	18	0	2	0	1	0	1	0	3	0	3	0	6	2	2	1	6	2	0	2	rs759363791		C3N-02089_TP	C3N-02089_NB	G	G																c.220G>T	p.Gly74Cys	p.G74C	ENST00000323205	2/10	222	149	73	183	183	0	strelka-varscan-mutect	GCAT,missense_variant,p.Gly74Cys,ENST00000323205,NM_001171690.1;GCAT,missense_variant,p.Gly74Cys,ENST00000445195,;GCAT,intron_variant,,ENST00000248924,NM_014291.3;GCAT,intron_variant,,ENST00000451984,;H1F0,downstream_gene_variant,,ENST00000340857,NM_005318.3;GCAT,intron_variant,,ENST00000415371,;GCAT,intron_variant,,ENST00000426858,;GCAT,intron_variant,,ENST00000478203,;	T	ENST00000323205	Transcript	missense_variant	283/1656	220/1338	74/445	G/C	Ggc/Tgc	rs759363791	1		1	GCAT	HGNC	HGNC:4188	protein_coding	YES	CCDS54527.1	ENSP00000371110	O75600		UPI000020770F	NM_001171690.1	tolerated_low_confidence(0.11)		2/10		HAMAP:MF_00985																	MODERATE	1	SNV	2			1										PASS		rs759363791	.												T	3	4	90	37809972	37809972	G	T	1	0	0	0	0	1	0	0	0	6154	1000	35	2		2	GCAT	22	37809972	Missense_Mutation	SNP	G	C3N-02089_TP	436190	37809972	13008496	1062	29859											
CHADL	0	.	GRCh38	chr22	41238427	41238429	+	In_Frame_Del	DEL	GTG	GTG	-																															ggcagagcctggagctcgttGtggtgtaggctgagccgtct																								novel		C3N-02089_TP	C3N-02089_NB	GTG	GTG																c.643_645delCAC	p.His215del	p.H215del	ENST00000216241	3/6	52	38	14	72	72	0	sindel-varindel-pindel	CHADL,inframe_deletion,p.His215del,ENST00000216241,NM_138481.1;CHADL,inframe_deletion,p.His213del,ENST00000417999,;CHADL,intron_variant,,ENST00000455425,;	-	ENST00000216241	Transcript	inframe_deletion	696-698/2533	643-645/2289	215/762	H/-	CAC/-		1		-1	CHADL	HGNC	HGNC:25165	protein_coding	YES	CCDS46715.1	ENSP00000216241	Q6NUI6		UPI00001C2057	NM_138481.1			3/6		PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF24,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	90	41238427	41238427	GTG	-	1	0	1	0	1	0	0	0	0	3069	1368	48	0		0	CHADL	22	41238427	In_Frame_Del	DEL	GTG	C3N-02089_TP	3428455	41238427	9580041	1063	29860											
SMC1B	0	.	GRCh38	chr22	45362961	45362961	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatcttattcagtttcttcTtaaggtgactgcgactatac	9	17	7	8	1	4	2	1	2	3	0	4	3	4	2	0	1	2	1	0	1	4	7	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.2486A>G	p.Lys829Arg	p.K829R	ENST00000357450	16/25	167	106	61	184	184	0	strelka-varscan-mutect	SMC1B,missense_variant,p.Lys829Arg,ENST00000357450,NM_148674.4;SMC1B,missense_variant,p.Lys829Arg,ENST00000404354,NM_001291501.1;	C	ENST00000357450	Transcript	missense_variant	2486/4201	2486/3708	829/1235	K/R	aAg/aGg		1		-1	SMC1B	HGNC	HGNC:11112	protein_coding	YES	CCDS43027.1	ENSP00000350036	Q8NDV3		UPI0004438059	NM_148674.4	tolerated(0.21)		16/25		Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF147,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	90	45362961	45362961	T	C	1	0	0	0	0	1	0	0	0	15075	1609	56	5		5	SMC1B	22	45362961	Missense_Mutation	SNP	T	C3N-02089_TP	4124534	45362961	5455507	1064	29861											
FBLN1	0	.	GRCh38	chr22	45563182	45563182	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccagggacttgctcctGaccgtcaagatggatctctc	8	9	11	13	1	2	2	1	1	1	1	5	5	3	4	3	2	2	1	3	2	1	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2082G>T	p.=	p.L694L	ENST00000402984	16/16	98	92	6	152	152	0	strelka-varscan-mutect	FBLN1,synonymous_variant,p.=,ENST00000402984,;FBLN1,synonymous_variant,p.=,ENST00000262722,NM_001996.3;FBLN1,intron_variant,,ENST00000327858,NM_006486.2;FBLN1,intron_variant,,ENST00000442170,NM_006485.3;FBLN1,downstream_gene_variant,,ENST00000340923,NM_006487.2;	T	ENST00000402984	Transcript	synonymous_variant	2185/2355	2082/2166	694/721	L	ctG/ctT		1		1	FBLN1	HGNC	HGNC:3600	protein_coding			ENSP00000385521		B1AHL2	UPI000165DBD3				16/16		PIRSF_domain:PIRSF036313,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF303																	LOW		SNV	5			1										PASS		.	.												T	2	4	90	45563182	45563182	G	T	1	0	0	0	0	0	0	0	1	5561	1277	45	2		2	FBLN1	22	45563182	Silent	SNP	G	C3N-02089_TP	200221	45563182	5255286	1065	29862											
MLC1	0	.	GRCh38	chr22	50076864	50076864	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaagatttcaggacccgagCaggaaatggcacttcgtcca	12	8	11	10	2	1	1	1	0	0	1	3	4	2	3	2	3	1	3	2	3	2	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.574G>T	p.Ala192Ser	p.A192S	ENST00000311597	7/12	422	298	124	462	458	4	strelka-varscan-mutect	MLC1,missense_variant,p.Ala192Ser,ENST00000311597,NM_015166.3;MLC1,missense_variant,p.Ala192Ser,ENST00000395876,NM_139202.2;MLC1,missense_variant,p.Ala162Ser,ENST00000442311,;MLC1,upstream_gene_variant,,ENST00000483836,;MLC1,upstream_gene_variant,,ENST00000470008,;	A	ENST00000311597	Transcript	missense_variant	1181/3933	574/1134	192/377	A/S	Gct/Tct		1		-1	MLC1	HGNC	HGNC:17082	protein_coding	YES	CCDS14083.1	ENSP00000310375	Q15049	A0A024R4V4	UPI000004AD09	NM_015166.3	tolerated_low_confidence(0.18)		7/12		PD492528,hmmpanther:PTHR17597																	MODERATE	1	SNV	1			1										PASS		rs1320745505	.												A	3	1	90	50076864	50076864	C	A	1	0	0	0	0	1	0	0	0	9580	710	25	2		2	MLC1	22	50076864	Missense_Mutation	SNP	C	C3N-02089_TP	4513682	50076864	741604	1066	29863											
SHANK3	0	.	GRCh38	chr22	50720870	50720870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctcgcgttcggcggcccgGgcccggccaaggaccggcgg	3	3	19	16	8	0	0	0	0	0	0	2	1	0	1	4	8	0	2	4	8	1	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.3034G>T	p.Gly1012Cys	p.G1012C	ENST00000262795	24/25	42	29	13	28	28	0	strelka-varscan-mutect	SHANK3,missense_variant,p.Gly1012Cys,ENST00000262795,;SHANK3,missense_variant,p.Gly1006Cys,ENST00000445220,NM_033517.1;SHANK3,non_coding_transcript_exon_variant,,ENST00000414786,;	T	ENST00000262795	Transcript	missense_variant	3034/7091	3034/5193	1012/1730	G/C	Ggc/Tgc		1		1	SHANK3	HGNC	HGNC:14294	protein_coding	YES		ENSP00000489147		A0A0U1RQS4	UPI00071AFB18		tolerated(0.18)		24/25		Low_complexity_(Seg):seg,hmmpanther:PTHR24135:SF4,hmmpanther:PTHR24135																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	90	50720870	50720870	G	T	1	0	0	0	0	1	0	0	0	14525	1232	43	2		2	SHANK3	22	50720870	Missense_Mutation	SNP	G	C3N-02089_TP	644006	50720870	97598	1067	29864											
PPP2R3B	0	.	GRCh38	chrX	338613	338613	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccactcacccgtcctccCagggctctcccgcagtctcc	4	8	6	23	2	3	0	1	0	2	0	8	0	6	0	7	1	0	2	7	1	0	0	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1568G>C	p.Trp523Ser	p.W523S	ENST00000390665	12/13	254	178	76	199	199	0	strelka-varscan-mutect	PPP2R3B,missense_variant,p.Trp523Ser,ENST00000390665,NM_013239.4;PPP2R3B,non_coding_transcript_exon_variant,,ENST00000477110,;PPP2R3B,non_coding_transcript_exon_variant,,ENST00000479438,;PPP2R3B,non_coding_transcript_exon_variant,,ENST00000468169,;PPP2R3B,downstream_gene_variant,,ENST00000484364,;PPP2R3B,downstream_gene_variant,,ENST00000477636,;	G	ENST00000390665	Transcript	missense_variant	1587/2151	1568/1728	523/575	W/S	tGg/tCg		1		-1	PPP2R3B	HGNC	HGNC:13417	protein_coding	YES	CCDS14104.1	ENSP00000375080	Q9Y5P8		UPI00001BB8B8	NM_013239.4	tolerated(0.07)		12/13		hmmpanther:PTHR14095:SF1,hmmpanther:PTHR14095																	MODERATE	1	SNV	1			1										PASS		rs1409249215	.												G	3	3	90	338613	338613	C	G	1	0	0	0	0	1	0	0	0	12512	595	21	4		4	PPP2R3B	23	338613	Missense_Mutation	SNP	C	C3N-02089_TP		338613	155702282	1068	29865											
MXRA5	0	.	GRCh38	chrX	3310703	3310703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgatgtccagggaaccGttgccatggacagtgatccg	8	9	12	12	2	0	2	0	2	0	0	3	4	3	4	5	2	2	1	5	2	1	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.7500C>A	p.Asn2500Lys	p.N2500K	ENST00000217939	7/7	122	73	49	137	135	2	strelka-varscan-mutect	MXRA5,missense_variant,p.Asn2500Lys,ENST00000217939,NM_015419.3;	T	ENST00000217939	Transcript	missense_variant	7655/9793	7500/8487	2500/2828	N/K	aaC/aaA		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	deleterious(0)		7/7		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		rs1301527419	.												T	3	4	90	3310703	3310703	G	T	1	0	0	0	0	1	0	0	0	10002	1136	40	1		1	MXRA5	23	3310703	Missense_Mutation	SNP	G	C3N-02089_TP	2972090	3310703	152730192	1069	29866											
MXRA5	0	.	GRCh38	chrX	3311192	3311192	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcaccaccttgactctGactctcatctcgtccttccc	5	13	5	18	1	4	2	2	2	3	0	8	2	6	2	4	0	0	1	4	0	0	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.7011C>A	p.=	p.V2337V	ENST00000217939	7/7	172	133	39	185	185	0	strelka-varscan-mutect	MXRA5,synonymous_variant,p.=,ENST00000217939,NM_015419.3;	T	ENST00000217939	Transcript	synonymous_variant	7166/9793	7011/8487	2337/2828	V	gtC/gtA		1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3			7/7		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	90	3311192	3311192	G	T	1	0	0	0	0	0	0	0	1	10002	1277	45	2		2	MXRA5	23	3311192	Silent	SNP	G	C3N-02089_TP	489	3311192	152729703	1070	29867											
MXRA5	0	.	GRCh38	chrX	3323227	3323227	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggagaaatagcaggaaaagGtggtgtgacttctagactca	14	8	14	5	0	2	3	1	1	1	2	2	5	2	4	0	4	1	1	0	4	5	3			C3N-02089_TP	C3N-02089_NB	G	G																c.2458C>G	p.Pro820Ala	p.P820A	ENST00000217939	5/7	135	93	42	132	132	0	strelka-varscan-mutect	MXRA5,missense_variant,p.Pro820Ala,ENST00000217939,NM_015419.3;	C	ENST00000217939	Transcript	missense_variant	2613/9793	2458/8487	820/2828	P/A	Cct/Gct	COSM4947043,COSM75496	1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3	tolerated(0.45)		5/7		Low_complexity_(Seg):seg,hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												C	3	2	90	3323227	3323227	G	C	1	0	0	0	0	1	0	0	0	10002	1261	44	4		4	MXRA5	23	3323227	Missense_Mutation	SNP	G	C3N-02089_TP	12035	3323227	152717668	1071	29868											
MXRA5	0	.	GRCh38	chrX	3324314	3324314	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatattgtttgagaatactgGgtgtagtaggaaagtagcac	13	12	13	3	0	0	1	0	1	0	1	0	4	0	2	0	2	2	5	0	2	7	7			C3N-02089_TP	C3N-02089_NB	G	G																c.1371C>T	p.=	p.T457T	ENST00000217939	5/7	114	84	30	132	132	0	strelka-varscan-mutect	MXRA5,synonymous_variant,p.=,ENST00000217939,NM_015419.3;	A	ENST00000217939	Transcript	synonymous_variant	1526/9793	1371/8487	457/2828	T	acC/acT	COSM2156773,COSM2156774	1		-1	MXRA5	HGNC	HGNC:7539	protein_coding	YES	CCDS14124.1	ENSP00000217939	Q9NR99		UPI000013C73B	NM_015419.3			5/7		hmmpanther:PTHR10489:SF680,hmmpanther:PTHR10489											1,1						LOW	1	SNV	5		1,1	1										PASS		rs1201600302	.												A	2	1	90	3324314	3324314	G	A	1	0	0	0	0	0	0	0	1	10002	1219	43	3		3	MXRA5	23	3324314	Silent	SNP	G	C3N-02089_TP	1087	3324314	152716581	1072	29869											
SHROOM2	0	.	GRCh38	chrX	9895685	9895685	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgttgcactccctgacccagGaggggaagcgccggcctgag	7	6	15	13	2	0	2	0	2	0	0	1	4	1	4	4	4	2	2	4	4	1	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1777G>C	p.Glu593Gln	p.E593Q	ENST00000380913	4/10	84	57	27	84	84	0	strelka-varscan-mutect	SHROOM2,missense_variant,p.Glu593Gln,ENST00000380913,NM_001649.2;SHROOM2,upstream_gene_variant,,ENST00000493668,;	C	ENST00000380913	Transcript	missense_variant	1867/7447	1777/4851	593/1616	E/Q	Gag/Cag		1		1	SHROOM2	HGNC	HGNC:630	protein_coding	YES	CCDS14135.1	ENSP00000370299	Q13796		UPI0000125D05	NM_001649.2	deleterious(0)		4/10		hmmpanther:PTHR15012:SF8,hmmpanther:PTHR15012																	MODERATE	1	SNV	1			1										PASS		rs1284409692	.												C	3	2	90	9895685	9895685	G	C	1	0	0	0	0	1	0	0	0	14557	1175	41	4		4	SHROOM2	23	9895685	Missense_Mutation	SNP	G	C3N-02089_TP	6571371	9895685	146145210	1073	29870											
FANCB	0	.	GRCh38	chrX	14864633	14864633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaaaaagaggtttcctccaCctgaatccataagttgaact	14	10	7	10	1	0	3	0	2	0	1	3	4	3	3	4	1	1	2	4	1	5	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.878G>T	p.Gly293Val	p.G293V	ENST00000398334	3/10	139	105	34	142	142	0	strelka-varscan-mutect	FANCB,missense_variant,p.Gly293Val,ENST00000398334,NM_001324162.1,NM_001018113.1;FANCB,missense_variant,p.Gly293Val,ENST00000324138,NM_152633.2;FANCB,missense_variant,p.Gly293Val,ENST00000452869,;FANCB,downstream_gene_variant,,ENST00000489126,;	A	ENST00000398334	Transcript	missense_variant	1146/3008	878/2580	293/859	G/V	gGt/gTt		1		-1	FANCB	HGNC	HGNC:3583	protein_coding	YES	CCDS14161.1	ENSP00000381378	Q8NB91	A0A024RBW1	UPI000006E70A	NM_001324162.1,NM_001018113.1	tolerated(0.06)		3/10		hmmpanther:PTHR28450																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	14864633	14864633	C	A	1	0	0	0	0	1	0	0	0	5522	507	18	2		2	FANCB	23	14864633	Missense_Mutation	SNP	C	C3N-02089_TP	4968948	14864633	141176262	1074	29871											
NHS	0	.	GRCh38	chrX	17726495	17726495	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgactgtggtctcaaaggtAataagagctatgtctgtcac	11	13	10	7	0	3	2	2	1	2	1	4	2	3	2	0	2	1	2	0	2	4	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.2326A>C	p.Asn776His	p.N776H	ENST00000380060	6/8	103	72	31	120	120	0	strelka-varscan-mutect	NHS,missense_variant,p.Asn617His,ENST00000615422,;NHS,missense_variant,p.Asn776His,ENST00000380060,NM_198270.3,NM_001291867.1;NHS,missense_variant,p.Asn620His,ENST00000398097,NM_001136024.3;NHS,missense_variant,p.Asn593His,ENST00000617601,NM_001291868.1;NHS,downstream_gene_variant,,ENST00000485305,;	C	ENST00000380060	Transcript	missense_variant	2664/8761	2326/4893	776/1630	N/H	Aat/Cat		1		1	NHS	HGNC	HGNC:7820	protein_coding	YES	CCDS14181.1	ENSP00000369400	Q6T4R5		UPI00001DFBF3	NM_198270.3,NM_001291867.1	tolerated(0.07)		6/8		Pfam_domain:PF15273,hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	17726495	17726495	A	C	1	0	0	0	0	1	0	0	0	10443	362	13	5		5	NHS	23	17726495	Missense_Mutation	SNP	A	C3N-02089_TP	2861862	17726495	138314400	1075	29872											
MAGEB6	0	.	GRCh38	chrX	26194464	26194464	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacgttggcgcaattcctGcagaagaagtttgagaagaa	13	9	12	7	2	0	4	0	1	0	4	1	5	1	4	1	1	2	5	1	1	5	3	rs774344871		C3N-02089_TP	C3N-02089_NB	G	G																c.618G>T	p.=	p.L206L	ENST00000379034	2/2	71	58	13	104	104	0	strelka-varscan-mutect	MAGEB6,synonymous_variant,p.=,ENST00000379034,NM_173523.2;	T	ENST00000379034	Transcript	synonymous_variant	767/1949	618/1224	206/407	L	ctG/ctT	rs774344871	1		1	MAGEB6	HGNC	HGNC:23796	protein_coding	YES	CCDS14217.1	ENSP00000368320	Q8N7X4		UPI00001413F4	NM_173523.2			2/2		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF80,hmmpanther:PTHR11736,SMART_domains:SM01373																	LOW	1	SNV	1			1										PASS		rs774344871	.												T	2	4	90	26194464	26194464	G	T	1	0	0	0	0	0	0	0	1	9096	1306	46	2		2	MAGEB6	23	26194464	Silent	SNP	G	C3N-02089_TP	8467969	26194464	129846431	1076	29873											
IL1RAPL1	0	.	GRCh38	chrX	29283170	29283170	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagaagactccatttggttCcggccaacattgctacagga	12	9	10	10	1	0	2	0	0	0	2	2	4	2	3	3	3	3	2	3	3	4	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.315C>A	p.Phe105Leu	p.F105L	ENST00000378993	3/11	90	63	27	93	92	1	strelka-varscan-mutect	IL1RAPL1,missense_variant,p.Phe105Leu,ENST00000378993,NM_014271.3;	A	ENST00000378993	Transcript	missense_variant	988/3667	315/2091	105/696	F/L	ttC/ttA		1		1	IL1RAPL1	HGNC	HGNC:5996	protein_coding	YES	CCDS14218.1	ENSP00000368278	Q9NZN1	X5DNQ7	UPI000006D1BF	NM_014271.3	deleterious(0)		3/11		PROSITE_profiles:PS50835,hmmpanther:PTHR11890:SF22,hmmpanther:PTHR11890,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1186311560	.												A	3	1	90	29283170	29283170	C	A	1	0	0	0	0	1	0	0	0	7564	854	30	2		2	IL1RAPL1	23	29283170	Missense_Mutation	SNP	C	C3N-02089_TP	3088706	29283170	126757725	1077	29874											
DDX3X	0	.	GRCh38	chrX	41347415	41347415	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcagcagccgcagtggcGgaggtggccacggtagcagc	9	3	17	12	3	0	0	0	0	0	0	0	1	0	1	2	5	5	5	2	5	2	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1873G>T	p.Gly625Ter	p.G625*	ENST00000399959	16/17	54	38	16	62	61	1	strelka-varscan-mutect	DDX3X,stop_gained,p.Gly625Ter,ENST00000399959,NM_001356.4,NM_001193416.2;DDX3X,stop_gained,p.Gly609Ter,ENST00000457138,NM_001193417.2;DDX3X,stop_gained,p.Gly625Ter,ENST00000629496,;DDX3X,stop_gained,p.Gly625Ter,ENST00000625837,;DDX3X,stop_gained,p.Gly625Ter,ENST00000626301,;DDX3X,stop_gained,p.Gly106Ter,ENST00000611968,;DDX3X,intron_variant,,ENST00000441189,;DDX3X,downstream_gene_variant,,ENST00000631641,;RN7SL15P,upstream_gene_variant,,ENST00000582825,;DDX3X,downstream_gene_variant,,ENST00000542215,;DDX3X,downstream_gene_variant,,ENST00000615313,;DDX3X,downstream_gene_variant,,ENST00000611546,;DDX3X,downstream_gene_variant,,ENST00000622198,;DDX3X,stop_gained,p.Gly625Ter,ENST00000629785,;DDX3X,stop_gained,p.Gly625Ter,ENST00000478993,;DDX3X,stop_gained,p.Gly625Ter,ENST00000630255,;DDX3X,stop_gained,p.Gly625Ter,ENST00000630858,;DDX3X,stop_gained,p.Gly625Ter,ENST00000630370,;DDX3X,stop_gained,p.Gly142Ter,ENST00000616050,;DDX3X,downstream_gene_variant,,ENST00000615742,;	T	ENST00000399959	Transcript	stop_gained	2728/5399	1873/1989	625/662	G/*	Gga/Tga		1		1	DDX3X	HGNC	HGNC:2745	protein_coding	YES	CCDS43931.1	ENSP00000382840	O00571		UPI000013CB6D	NM_001356.4,NM_001193416.2			16/17		Low_complexity_(Seg):seg,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF332																	HIGH	1	SNV	1			1										PASS		rs1200557241	.												T	4	4	90	41347415	41347415	G	T	1	0	0	0	0	0	1	0	0	4161	1117	39	1		1	DDX3X	23	41347415	Nonsense_Mutation	SNP	G	C3N-02089_TP	12064245	41347415	114693480	1078	29875											
CXorf36	0	.	GRCh38	chrX	45200818	45200818	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagcctcaggccccagctgGggctccatcttgggctctgg	4	8	14	15	0	3	0	1	0	2	0	4	0	4	0	4	5	2	4	4	5	0	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.9C>A	p.=	p.P3P	ENST00000398000	1/5	66	45	21	88	88	0	strelka-varscan-mutect	CXorf36,synonymous_variant,p.=,ENST00000398000,NM_176819.3;CXorf36,synonymous_variant,p.=,ENST00000377934,NM_024689.2;RP11-342D14.1,intron_variant,,ENST00000450527,;RP11-342D14.1,intron_variant,,ENST00000438181,;	T	ENST00000398000	Transcript	synonymous_variant	84/4655	9/1302	3/433	P	ccC/ccA		1		-1	CXorf36	HGNC	HGNC:25866	protein_coding	YES	CCDS48096.1	ENSP00000381086	Q9H7Y0		UPI000059DAFE	NM_176819.3			1/5		PD307452,hmmpanther:PTHR32073,hmmpanther:PTHR32073:SF8,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	90	45200818	45200818	G	T	1	0	0	0	0	0	0	0	1	3912	1219	43	2		2	CXorf36	23	45200818	Silent	SNP	G	C3N-02089_TP	3853403	45200818	110840077	1079	29876											
ELK1	0	.	GRCh38	chrX	47641256	47641256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatagtagtaccgcaaggcCcggctgagcttgtcgtaatt	9	11	11	10	3	1	1	1	1	0	0	2	1	1	1	2	2	2	6	2	2	5	6	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.186G>A	p.=	p.R62R	ENST00000247161	2/6	116	80	36	124	124	0	strelka-varscan-mutect	ELK1,synonymous_variant,p.=,ENST00000247161,NM_005229.4;ELK1,synonymous_variant,p.=,ENST00000376983,NM_001114123.2;ELK1,synonymous_variant,p.=,ENST00000343894,NM_001257168.1;	T	ENST00000247161	Transcript	synonymous_variant	286/2695	186/1287	62/428	R	cgG/cgA		1		-1	ELK1	HGNC	HGNC:3321	protein_coding	YES	CCDS14283.1	ENSP00000247161	P19419	A0A024R1A7	UPI0000129E66	NM_005229.4			2/6		PROSITE_profiles:PS50061,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF178,PROSITE_patterns:PS00346,Gene3D:1.10.10.10,Pfam_domain:PF00178,SMART_domains:SM00413,Superfamily_domains:SSF46785,Prints_domain:PR00454																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	90	47641256	47641256	C	T	1	0	0	0	0	0	0	0	1	4893	610	22	3		3	ELK1	23	47641256	Silent	SNP	C	C3N-02089_TP	2440438	47641256	108399639	1080	29877											
ZNF81	0	.	GRCh38	chrX	47914926	47914926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttctctttttagatGggaaatttggaattaagcct	9	20	7	5	0	2	1	0	0	2	1	3	3	2	3	1	2	1	0	1	2	4	8			C3N-02089_TP	C3N-02089_NB	G	G																c.280G>T	p.Gly94Trp	p.G94W	ENST00000376954	6/6	75	55	20	92	92	0	strelka-varscan-mutect	ZNF81,missense_variant,p.Gly94Trp,ENST00000376954,;ZNF81,missense_variant,p.Gly94Trp,ENST00000338637,NM_007137.3;ZNF81,intron_variant,,ENST00000376950,;	T	ENST00000376954	Transcript	missense_variant,splice_region_variant	648/7933	280/1986	94/661	G/W	Ggg/Tgg	COSM3561859,COSM3561860	1		1	ZNF81	HGNC	HGNC:13156	protein_coding	YES	CCDS43933.1	ENSP00000366153	P51508		UPI000023FCDA		deleterious(0.02)		6/6		hmmpanther:PTHR24377:SF5,hmmpanther:PTHR24377											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	90	47914926	47914926	G	T	1	0	0	0	0	1	0	0	0	18759	1362	47	2		2	ZNF81	23	47914926	Missense_Mutation	SNP	G	C3N-02089_TP	273670	47914926	108125969	1081	29878											
CACNA1F	0	.	GRCh38	chrX	49218542	49218542	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaccgagatggcgctggaGctggggaaggggcaatcctc	9	5	16	11	2	0	1	0	0	0	1	2	4	1	3	3	6	1	3	3	6	2	0	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.2874C>G	p.His958Gln	p.H958Q	ENST00000376265	24/48	108	74	34	144	144	0	strelka-varscan-mutect	CACNA1F,missense_variant,p.His958Gln,ENST00000376265,NM_005183.3;CACNA1F,missense_variant,p.His947Gln,ENST00000323022,NM_001256789.2;CACNA1F,missense_variant,p.His893Gln,ENST00000376251,NM_001256790.2;CACNA1F,downstream_gene_variant,,ENST00000480889,;	C	ENST00000376265	Transcript	missense_variant,splice_region_variant	2936/6070	2874/5934	958/1977	H/Q	caC/caG		1		-1	CACNA1F	HGNC	HGNC:1393	protein_coding	YES	CCDS35253.1	ENSP00000365441	O60840		UPI0000072854	NM_005183.3	tolerated(1)		24/48		hmmpanther:PTHR10037:SF184,hmmpanther:PTHR10037,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	49218542	49218542	G	C	1	0	0	0	0	1	0	0	0	2231	985	34	4		4	CACNA1F	23	49218542	Missense_Mutation	SNP	G	C3N-02089_TP	1303616	49218542	106822353	1082	29879											
KDM5C	0	.	GRCh38	chrX	53196852	53196852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccttcgggctgagggggCcagtgtgcgtttcacctcat	4	10	14	13	2	2	1	2	1	0	0	3	1	2	1	4	3	1	2	4	3	0	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.2815G>T	p.Ala939Ser	p.A939S	ENST00000375401	19/26	127	87	40	148	148	0	strelka-varscan-mutect	KDM5C,missense_variant,p.Ala872Ser,ENST00000452825,NM_001146702.1;KDM5C,missense_variant,p.Ala939Ser,ENST00000375401,NM_004187.3;KDM5C,missense_variant,p.Ala938Ser,ENST00000404049,NM_001282622.1;KDM5C,missense_variant,p.Ala939Ser,ENST00000375379,;KDM5C,missense_variant,p.Ala898Ser,ENST00000375383,;MIR6895,upstream_gene_variant,,ENST00000613497,;MIR6894,downstream_gene_variant,,ENST00000622662,;KDM5C,downstream_gene_variant,,ENST00000465402,;KDM5C,downstream_gene_variant,,ENST00000477109,;KDM5C,downstream_gene_variant,,ENST00000497100,;KDM5C,downstream_gene_variant,,ENST00000481369,;	A	ENST00000375401	Transcript	missense_variant	3348/6031	2815/4683	939/1560	A/S	Gcc/Tcc		1		-1	KDM5C	HGNC	HGNC:11114	protein_coding	YES	CCDS14351.1	ENSP00000364550	P41229		UPI000013CBE3	NM_004187.3	tolerated(0.44)		19/26		Pfam_domain:PF08429,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF43																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	53196852	53196852	C	A	1	0	0	0	0	1	0	0	0	8053	739	26	2		2	KDM5C	23	53196852	Missense_Mutation	SNP	C	C3N-02089_TP	3978310	53196852	102844043	1083	29880											
SPIN4	0	.	GRCh38	chrX	63350246	63350246	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgaccacctctccaggctCctgttctgctgtagggaaat	7	11	10	13	1	2	0	0	0	2	0	5	2	3	1	4	2	1	4	4	2	2	2	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.574G>T	p.Glu192Ter	p.E192*	ENST00000374884	1/1	83	61	22	104	104	0	strelka-varscan-mutect	SPIN4,stop_gained,p.Glu192Ter,ENST00000374884,NM_001012968.2;LINC01278,intron_variant,,ENST00000610234,;LINC01278,intron_variant,,ENST00000610088,;SPIN4-AS1,intron_variant,,ENST00000451979,;	A	ENST00000374884	Transcript	stop_gained	1099/4117	574/750	192/249	E/*	Gag/Tag		1		-1	SPIN4	HGNC	HGNC:27040	protein_coding	YES	CCDS43964.1	ENSP00000364018	Q56A73	X6R8Y7	UPI000013FD3C	NM_001012968.2			1/1		hmmpanther:PTHR10405,hmmpanther:PTHR10405:SF9																	HIGH		SNV				1										PASS		.	.												A	4	1	90	63350246	63350246	C	A	1	0	0	0	0	0	1	0	0	15409	864	30	2		2	SPIN4	23	63350246	Nonsense_Mutation	SNP	C	C3N-02089_TP	10153394	63350246	92690649	1084	29881											
MTMR8	0	.	GRCh38	chrX	64331711	64331711	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacagtctaggaactgggTgaagataggggacacttctt	12	10	13	6	0	2	2	0	1	2	1	2	5	2	4	0	4	2	0	0	4	5	5	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1198A>G	p.Thr400Ala	p.T400A	ENST00000374852	11/14	132	98	34	156	156	0	strelka-varscan-mutect	MTMR8,missense_variant,p.Thr400Ala,ENST00000374852,NM_017677.3;MTMR8,non_coding_transcript_exon_variant,,ENST00000478487,;MTMR8,non_coding_transcript_exon_variant,,ENST00000462447,;MTMR8,downstream_gene_variant,,ENST00000461403,;	C	ENST00000374852	Transcript	missense_variant	1266/2639	1198/2115	400/704	T/A	Acc/Gcc		1		-1	MTMR8	HGNC	HGNC:16825	protein_coding	YES	CCDS14379.1	ENSP00000363985	Q96EF0		UPI000006DFF7	NM_017677.3	tolerated(0.07)		11/14		Pfam_domain:PF06602,PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF36,SMART_domains:SM00404,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	64331711	64331711	T	C	1	0	0	0	0	1	0	0	0	9936	1696	59	5		5	MTMR8	23	64331711	Missense_Mutation	SNP	T	C3N-02089_TP	981465	64331711	91709184	1085	29882											
PJA1	0	.	GRCh38	chrX	69162619	69162619	+	Nonsense_Mutation	SNP	G	G	T																															ccagcttgccttcagaagacGactgtgaggccacactactt																										C3N-02089_TP	C3N-02089_NB	G	G																c.620C>A	p.Ser207Ter	p.S207*	ENST00000361478	2/2	140	118	22	148	148	0	strelka-varscan-mutect	PJA1,stop_gained,p.Ser207Ter,ENST00000361478,NM_145119.3;PJA1,stop_gained,p.Ser207Ter,ENST00000374583,;PJA1,stop_gained,p.Ser152Ter,ENST00000374571,NM_001032396.2;PJA1,stop_gained,p.Ser26Ter,ENST00000471141,;PJA1,intron_variant,,ENST00000374584,NM_022368.4;PJA1,downstream_gene_variant,,ENST00000590146,;PJA1,non_coding_transcript_exon_variant,,ENST00000477231,;	T	ENST00000361478	Transcript	stop_gained	998/2755	620/1932	207/643	S/*	tCg/tAg	COSM4714646	1		-1	PJA1	HGNC	HGNC:16648	protein_coding	YES	CCDS14393.1	ENSP00000355014	Q8NG27		UPI000006D00A	NM_145119.3			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR15710,hmmpanther:PTHR15710:SF2											1						HIGH	1	SNV	1		1	1										PASS		rs1399395052	.												T	4	4	90	69162619	69162619	G	T	1	0	0	0	0	0	1	0	0	12057	1059	37	1		1	PJA1	23	69162619	Nonsense_Mutation	SNP	G	C3N-02089_TP	4830908	69162619	86878276	1086	29883	622	2									
PJA1	0	.	GRCh38	chrX	69162620	69162620	+	Missense_Mutation	SNP	A	A	G																															cagcttgccttcagaagacgActgtgaggccacactacttt																								novel		C3N-02089_TP	C3N-02089_NB	A	A																c.619T>C	p.Ser207Pro	p.S207P	ENST00000361478	2/2	140	118	22	148	148	0	strelka-varscan-mutect	PJA1,missense_variant,p.Ser207Pro,ENST00000361478,NM_145119.3;PJA1,missense_variant,p.Ser207Pro,ENST00000374583,;PJA1,missense_variant,p.Ser152Pro,ENST00000374571,NM_001032396.2;PJA1,missense_variant,p.Ser26Pro,ENST00000471141,;PJA1,intron_variant,,ENST00000374584,NM_022368.4;PJA1,downstream_gene_variant,,ENST00000590146,;PJA1,non_coding_transcript_exon_variant,,ENST00000477231,;	G	ENST00000361478	Transcript	missense_variant	997/2755	619/1932	207/643	S/P	Tcg/Ccg		1		-1	PJA1	HGNC	HGNC:16648	protein_coding	YES	CCDS14393.1	ENSP00000355014	Q8NG27		UPI000006D00A	NM_145119.3	tolerated(0.06)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR15710,hmmpanther:PTHR15710:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	69162620	69162620	A	G	1	0	0	0	0	1	0	0	0	12057	275	10	5		5	PJA1	23	69162620	Missense_Mutation	SNP	A	C3N-02089_TP	1	69162620	86878275	1087	29884	622	2									
OTUD6A	0	.	GRCh38	chrX	70062901	70062901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctggccggcttcaagcGcgaggaggaggagaagctcg	9	4	17	11	4	1	1	1	0	0	1	2	5	1	3	2	5	2	3	2	5	2	1	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.377G>T	p.Arg126Leu	p.R126L	ENST00000338352	1/1	173	127	46	163	163	0	strelka-varscan-mutect	OTUD6A,missense_variant,p.Arg126Leu,ENST00000338352,NM_207320.2;	T	ENST00000338352	Transcript	missense_variant	411/1689	377/867	126/288	R/L	cGc/cTc		1		1	OTUD6A	HGNC	HGNC:32312	protein_coding	YES	CCDS14395.1	ENSP00000339389	Q7L8S5		UPI00000712B7	NM_207320.2	tolerated(0.23)		1/1		hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF13,Superfamily_domains:SSF54001																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	90	70062901	70062901	G	T	1	0	0	0	0	1	0	0	0	11385	1087	38	1		1	OTUD6A	23	70062901	Missense_Mutation	SNP	G	C3N-02089_TP	900281	70062901	85977994	1088	29885											
NAP1L2	0	.	GRCh38	chrX	73213553	73213553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagggatggggatcataatAtgctagctttgacttcagca	12	12	11	6	0	2	1	2	1	0	0	2	3	2	3	0	3	3	3	0	3	4	6	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.940T>C	p.Tyr314His	p.Y314H	ENST00000373517	1/1	62	55	7	74	74	0	strelka-varscan-mutect	NAP1L2,missense_variant,p.Tyr314His,ENST00000373517,NM_021963.3;	G	ENST00000373517	Transcript	missense_variant	1296/2550	940/1383	314/460	Y/H	Tat/Cat		1		-1	NAP1L2	HGNC	HGNC:7638	protein_coding	YES	CCDS14423.1	ENSP00000362616	Q9ULW6		UPI00001303E8	NM_021963.3	tolerated(0.58)		1/1		hmmpanther:PTHR11875:SF36,hmmpanther:PTHR11875,Pfam_domain:PF00956,Superfamily_domains:SSF143113																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	90	73213553	73213553	A	G	1	0	0	0	0	1	0	0	0	10166	449	16	5		5	NAP1L2	23	73213553	Missense_Mutation	SNP	A	C3N-02089_TP	3150652	73213553	82827342	1089	29886											
TGIF2LX	0	.	GRCh38	chrX	89922166	89922166	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgaagacccaaagcccagcCcaagacacctcaatcatgtc	14	4	7	16	1	2	2	2	0	0	2	3	3	2	2	4	0	2	0	4	0	4	0	rs775493588		C3N-02089_TP	C3N-02089_NB	C	C																c.81C>A	p.=	p.A27A	ENST00000561129	1/1	110	81	29	145	145	0	strelka-varscan-mutect	TGIF2LX,synonymous_variant,p.=,ENST00000561129,;TGIF2LX,synonymous_variant,p.=,ENST00000283891,NM_138960.3;	A	ENST00000561129	Transcript	synonymous_variant	211/928	81/726	27/241	A	gcC/gcA	rs775493588	1		1	TGIF2LX	HGNC	HGNC:18570	protein_coding	YES	CCDS14459.1	ENSP00000453704	Q8IUE1		UPI0000074793				1/1																			LOW	1	SNV				1										PASS		rs775493588	.												A	2	1	90	89922166	89922166	C	A	1	0	0	0	0	0	0	0	1	16260	610	22	2		2	TGIF2LX	23	89922166	Silent	SNP	C	C3N-02089_TP	16708613	89922166	66118729	1090	29887											
ARL13A	0	.	GRCh38	chrX	100973714	100973714	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggcttttgtcctcctgcTgctcttgcctaaggacaaca	6	13	8	14	1	1	0	0	0	1	0	4	1	4	1	4	2	4	3	4	2	2	4	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.25T>A	p.Cys9Ser	p.C9S	ENST00000450049	2/8	70	52	18	92	92	0	strelka-varscan-mutect	ARL13A,missense_variant,p.Cys9Ser,ENST00000450049,NM_001162491.1;ARL13A,missense_variant,p.Cys9Ser,ENST00000450457,;	A	ENST00000450049	Transcript	missense_variant	138/1102	25/771	9/256	C/S	Tgc/Agc		1		1	ARL13A	HGNC	HGNC:31709	protein_coding	YES	CCDS55463.1	ENSP00000398637	Q5H913		UPI0001747A4A	NM_001162491.1	tolerated(0.08)		2/8		hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF111,SMART_domains:SM00177,SMART_domains:SM00178																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	100973714	100973714	T	A	1	0	0	0	0	1	0	0	0	1065	1580	55	4		4	ARL13A	23	100973714	Missense_Mutation	SNP	T	C3N-02089_TP	11051548	100973714	55067181	1091	29888											
HNRNPH2	0	.	GRCh38	chrX	101412499	101412499	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgagaaggccttaaagAaacacaaggaaagaataggg	19	5	12	5	0	0	3	0	1	0	3	0	5	0	4	1	3	2	1	1	3	9	3	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.511A>G	p.Lys171Glu	p.K171E	ENST00000316594	2/2	86	64	22	87	87	0	strelka-varscan-mutect	HNRNPH2,missense_variant,p.Lys171Glu,ENST00000316594,NM_001032393.2,NM_019597.4;GLA,upstream_gene_variant,,ENST00000218516,NM_000169.2;RPL36A-HNRNPH2,downstream_gene_variant,,ENST00000409338,;RPL36A-HNRNPH2,downstream_gene_variant,,ENST00000409170,NM_001199973.1;GLA,upstream_gene_variant,,ENST00000479445,;GLA,upstream_gene_variant,,ENST00000486121,;GLA,upstream_gene_variant,,ENST00000480513,;GLA,upstream_gene_variant,,ENST00000493905,;	G	ENST00000316594	Transcript	missense_variant	589/2223	511/1350	171/449	K/E	Aaa/Gaa		1		1	HNRNPH2	HGNC	HGNC:5042	protein_coding	YES	CCDS14485.1	ENSP00000361927	P55795		UPI0000134537	NM_001032393.2,NM_019597.4	deleterious(0)		2/2		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF33,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	101412499	101412499	A	G	1	0	0	0	0	1	0	0	0	7161	247	9	5		5	HNRNPH2	23	101412499	Missense_Mutation	SNP	A	C3N-02089_TP	438785	101412499	54628396	1092	29889											
DCX	0	.	GRCh38	chrX	111333076	111333076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccagagaaaaatcatcCtgagcatagcgaaatttttc	15	11	6	9	1	2	2	2	1	0	1	5	4	4	2	2	0	2	1	2	0	4	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.1026G>T	p.Gln342His	p.Q342H	ENST00000338081	4/7	186	133	53	185	185	0	strelka-varscan-mutect	DCX,missense_variant,p.Gln261His,ENST00000358070,;DCX,missense_variant,p.Gln342His,ENST00000338081,NM_000555.3;DCX,missense_variant,p.Gln261His,ENST00000636035,NM_001195553.1;DCX,missense_variant,p.Gln261His,ENST00000371993,NM_178153.2,NM_178151.2;DCX,missense_variant,p.Gln261His,ENST00000635795,NM_178152.2;DCX,missense_variant,p.Gln261His,ENST00000637570,;DCX,missense_variant,p.Gln261His,ENST00000356220,;DCX,missense_variant,p.Gln261His,ENST00000488120,;DCX,missense_variant,p.Gln261His,ENST00000637453,;DCX,missense_variant,p.Gln261His,ENST00000496551,;	A	ENST00000338081	Transcript	missense_variant	1198/9402	1026/1326	342/441	Q/H	caG/caT		1		-1	DCX	HGNC	HGNC:2714	protein_coding	YES	CCDS14556.1	ENSP00000337697		A0A140LJL1	UPI000013D33F	NM_000555.3	tolerated(0.1)		4/7		PROSITE_profiles:PS50309,hmmpanther:PTHR24347:SF122,hmmpanther:PTHR24347,Gene3D:1mfwA00,PIRSF_domain:PIRSF037870,SMART_domains:SM00537,Superfamily_domains:SSF89837																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	90	111333076	111333076	C	A	1	0	0	0	0	1	0	0	0	4121	680	24	2		2	DCX	23	111333076	Missense_Mutation	SNP	C	C3N-02089_TP	9920577	111333076	44707819	1093	29890											
CT83	0	.	GRCh38	chrX	116461892	116461892	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaattatttaaaatatccCgagagaggtcgtagactgca	15	10	10	6	2	0	2	0	0	0	2	2	5	1	3	1	2	1	2	1	2	6	5	rs782064385		C3N-02089_TP	C3N-02089_NB	C	C																c.191G>T	p.Arg64Leu	p.R64L	ENST00000371894	2/2	175	137	38	156	156	0	strelka-varscan-mutect	CT83,missense_variant,p.Arg64Leu,ENST00000371894,NM_001017978.3;SLC6A14,downstream_gene_variant,,ENST00000598581,NM_007231.4;SLC6A14,downstream_gene_variant,,ENST00000463626,;	A	ENST00000371894	Transcript	missense_variant	338/548	191/342	64/113	R/L	cGg/cTg	rs782064385	1		-1	CT83	HGNC	HGNC:33494	protein_coding	YES	CCDS35372.1	ENSP00000360961	Q5H943		UPI0000036205	NM_001017978.3	tolerated(0.14)		2/2		Pfam_domain:PF15204,hmmpanther:PTHR38650																	MODERATE	1	SNV	1			1										PASS		rs782064385	.												A	3	1	90	116461892	116461892	C	A	1	0	0	0	0	1	0	0	0	3794	652	23	1		1	CT83	23	116461892	Missense_Mutation	SNP	C	C3N-02089_TP	5128816	116461892	39579003	1094	29891											
CT83	0	.	GRCh38	chrX	116462000	116462000	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttgatgacatttcgccaGtgtttctctgtaaagaaagg	12	14	9	6	1	1	3	0	2	1	1	3	3	1	3	1	1	0	2	1	1	4	4	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.83C>G	p.Thr28Ser	p.T28S	ENST00000371894	2/2	52	38	14	76	76	0	strelka-varscan-mutect	CT83,missense_variant,p.Thr28Ser,ENST00000371894,NM_001017978.3;SLC6A14,downstream_gene_variant,,ENST00000598581,NM_007231.4;SLC6A14,downstream_gene_variant,,ENST00000463626,;	C	ENST00000371894	Transcript	missense_variant	230/548	83/342	28/113	T/S	aCt/aGt		1		-1	CT83	HGNC	HGNC:33494	protein_coding	YES	CCDS35372.1	ENSP00000360961	Q5H943		UPI0000036205	NM_001017978.3	tolerated(0.23)		2/2		Pfam_domain:PF15204,hmmpanther:PTHR38650																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	90	116462000	116462000	G	C	1	0	0	0	0	1	0	0	0	3794	1029	36	4		4	CT83	23	116462000	Missense_Mutation	SNP	G	C3N-02089_TP	108	116462000	39578895	1095	29892											
TENM1	0	.	GRCh38	chrX	124384692	124384692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttccaaactgctctgttCtgccagagacatcaacatat	12	13	5	11	0	3	1	1	0	2	1	4	2	4	1	2	0	4	2	2	0	3	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.6239G>A	p.Arg2080Lys	p.R2080K	ENST00000422452	30/32	76	61	15	83	83	0	strelka-varscan-mutect	TENM1,missense_variant,p.Arg2080Lys,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,missense_variant,p.Arg2073Lys,ENST00000371130,NM_014253.3;STAG2,intron_variant,,ENST00000469481,;	T	ENST00000422452	Transcript	missense_variant	6303/12891	6239/8199	2080/2732	R/K	aGa/aAa		1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1	tolerated(1)		30/32		hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	124384692	124384692	C	T	1	0	0	0	0	1	0	0	0	16171	913	32	3		3	TENM1	23	124384692	Missense_Mutation	SNP	C	C3N-02089_TP	7922692	124384692	31656203	1096	29893											
SMARCA1	0	.	GRCh38	chrX	129497968	129497968	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcaaacagatatggatgatTacaacactttcgaagctgca	16	10	7	8	1	1	2	1	1	0	1	2	4	1	3	0	1	5	2	0	1	5	3	novel		C3N-02089_TP	C3N-02089_NB	T	T																c.1381A>C	p.Asn461His	p.N461H	ENST00000371121	11/25	152	99	53	198	198	0	strelka-varscan-mutect	SMARCA1,missense_variant,p.Asn461His,ENST00000371122,NM_003069.4;SMARCA1,missense_variant,p.Asn461His,ENST00000371123,NM_001282875.1;SMARCA1,missense_variant,p.Asn461His,ENST00000371121,NM_001282874.1;SMARCA1,non_coding_transcript_exon_variant,,ENST00000617310,;	G	ENST00000371121	Transcript	missense_variant	1416/3564	1381/3213	461/1070	N/H	Aat/Cat		1		-1	SMARCA1	HGNC	HGNC:11097	protein_coding	YES	CCDS76019.1	ENSP00000360162		B7ZLQ5	UPI00004258DE	NM_001282874.1	deleterious(0)		11/25		hmmpanther:PTHR10799:SF691,hmmpanther:PTHR10799,Pfam_domain:PF00176,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	129497968	129497968	T	G	1	0	0	0	0	1	0	0	0	15061	1754	61	5		5	SMARCA1	23	129497968	Missense_Mutation	SNP	T	C3N-02089_TP	5113276	129497968	26542927	1097	29894											
MAGEC3	0	.	GRCh38	chrX	141896890	141896890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggtgttccagaagatgagGatatgcctgctgctgggatg	8	11	16	6	0	0	3	0	1	0	2	1	5	1	5	2	3	3	3	2	3	2	2	novel		C3N-02089_TP	C3N-02089_NB	G	G																c.1132G>T	p.Asp378Tyr	p.D378Y	ENST00000298296	7/8	228	131	97	163	163	0	strelka-varscan-mutect	MAGEC3,missense_variant,p.Asp378Tyr,ENST00000298296,NM_138702.1;MAGEC3,missense_variant,p.Asp80Tyr,ENST00000544766,NM_177456.2;MAGEC3,missense_variant,p.Asp80Tyr,ENST00000409007,;MAGEC3,5_prime_UTR_variant,,ENST00000443323,;MAGEC3,non_coding_transcript_exon_variant,,ENST00000483584,;	T	ENST00000298296	Transcript	missense_variant	1132/1932	1132/1932	378/643	D/Y	Gat/Tat		1		1	MAGEC3	HGNC	HGNC:23798	protein_coding	YES	CCDS14676.1	ENSP00000298296	Q8TD91		UPI000006E09B	NM_138702.1	deleterious(0)		7/8		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF86																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	90	141896890	141896890	G	T	1	0	0	0	0	1	0	0	0	9100	1174	41	2		2	MAGEC3	23	141896890	Missense_Mutation	SNP	G	C3N-02089_TP	12398922	141896890	14144005	1098	29895											
FMR1NB	0	.	GRCh38	chrX	148024940	148024940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaagaaggaagcgaaaGaggaagtctgaaatgttaca	21	5	11	4	1	1	3	0	1	1	2	1	6	1	5	0	2	3	1	0	2	8	1	rs782475138		C3N-02089_TP	C3N-02089_NB	G	G																c.708G>T	p.Lys236Asn	p.K236N	ENST00000370467	5/6	145	72	73	107	107	0	strelka-varscan-mutect	FMR1NB,missense_variant,p.Lys236Asn,ENST00000370467,NM_152578.2;FMR1NB,missense_variant,p.Lys66Asn,ENST00000489034,;	T	ENST00000370467	Transcript	missense_variant	782/1021	708/768	236/255	K/N	aaG/aaT	rs782475138	1		1	FMR1NB	HGNC	HGNC:26372	protein_coding	YES	CCDS14683.1	ENSP00000359498	Q8N0W7		UPI0000062299	NM_152578.2	tolerated(0.09)		5/6		Low_complexity_(Seg):seg,hmmpanther:PTHR37360:SF1,hmmpanther:PTHR37360																	MODERATE	1	SNV	1			1										PASS		rs782475138	.												T	3	4	90	148024940	148024940	G	T	1	0	0	0	0	1	0	0	0	5817	933	33	2		2	FMR1NB	23	148024940	Missense_Mutation	SNP	G	C3N-02089_TP	6128050	148024940	8015955	1099	29896											
AFF2	0	.	GRCh38	chrX	148978430	148978430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaccatgctatgaagtactCcagatcactgatggaatatt	13	11	9	8	0	1	3	1	2	0	1	2	5	2	5	2	2	2	2	2	2	5	4	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.3545C>A	p.Ser1182Tyr	p.S1182Y	ENST00000370460	18/21	93	53	40	70	70	0	strelka-varscan-mutect	AFF2,missense_variant,p.Ser1182Tyr,ENST00000370460,NM_001169123.1,NM_002025.3;AFF2,missense_variant,p.Ser823Tyr,ENST00000286437,NM_001170628.1;AFF2,missense_variant,p.Ser1147Tyr,ENST00000342251,NM_001169122.1;AFF2,missense_variant,p.Ser1147Tyr,ENST00000370457,NM_001169124.1,NM_001169125.1;	A	ENST00000370460	Transcript	missense_variant	4024/13746	3545/3936	1182/1311	S/Y	tCc/tAc		1		1	AFF2	HGNC	HGNC:3776	protein_coding	YES	CCDS14684.1	ENSP00000359489	P51816		UPI000049E130	NM_001169123.1,NM_002025.3	deleterious(0)		18/21		hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF18,Pfam_domain:PF05110																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	90	148978430	148978430	C	A	1	0	0	0	0	1	0	0	0	434	855	30	2		2	AFF2	23	148978430	Missense_Mutation	SNP	C	C3N-02089_TP	953490	148978430	7062465	1100	29897											
NLGN4Y	0	.	GRCh38	chrY	14733478	14733478	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggcacgtttgtgtgggAgctcaaaaatgtttaattat	13	13	11	4	1	1	1	1	0	0	1	1	2	1	2	0	2	1	4	0	2	5	4	novel		C3N-02089_TP	C3N-02089_NB	A	A																c.712A>T	p.Ser238Cys	p.S238C	ENST00000297967	4/4	127	49	78	87	87	0	strelka-varscan-mutect	NLGN4Y,missense_variant,p.Ser238Cys,ENST00000297967,NM_001164238.1;NLGN4Y,missense_variant,p.Ser218Cys,ENST00000413217,;NLGN4Y,intron_variant,,ENST00000382872,NM_001206850.1;NLGN4Y,intron_variant,,ENST00000382868,;NLGN4Y,intron_variant,,ENST00000339174,;NLGN4Y,intron_variant,,ENST00000355905,NM_014893.4;NLGN4Y,intron_variant,,ENST00000476359,;	T	ENST00000297967	Transcript	missense_variant	811/882	712/771	238/256	S/C	Agc/Tgc		1		1	NLGN4Y	HGNC	HGNC:15529	protein_coding		CCDS55553.1	ENSP00000297967	Q8NFZ3		UPI00001D7C69	NM_001164238.1	deleterious_low_confidence(0.04)		4/4																			MODERATE		SNV	1			1										PASS		.	.												T	3	4	90	14733478	14733478	A	T	1	0	0	0	0	1	0	0	0	10502	304	11	4		4	NLGN4Y	24	14733478	Missense_Mutation	SNP	A	C3N-02089_TP		14733478	42493937	1101	29898											
RBMY1A1	0	.	GRCh38	chrY	21540640	21540640	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtagaacaagccaagaaaCcatcttttcaaagtggtggt	16	9	9	7	0	2	2	1	0	1	2	2	2	2	2	2	2	3	1	2	2	7	3	novel		C3N-02089_TP	C3N-02089_NB	C	C																c.256C>G	p.Pro86Ala	p.P86A	ENST00000382707	4/12	315	275	40	220	220	0	varscan-mutect	RBMY1A1,missense_variant,p.Pro86Ala,ENST00000382707,NM_005058.2;RBMY1A1,missense_variant,p.Pro86Ala,ENST00000439108,;RBMY1A1,missense_variant,p.Pro86Ala,ENST00000303902,;RBMY1B,intron_variant,,ENST00000619219,;RBMY1A1,intron_variant,,ENST00000361046,NM_001320945.1;	G	ENST00000382707	Transcript	missense_variant	408/1921	256/1491	86/496	P/A	Cca/Gca		1		1	RBMY1A1	HGNC	HGNC:9912	protein_coding	YES	CCDS14796.1	ENSP00000372154	P0DJD3		UPI000011D6E5	NM_005058.2	deleterious(0.03)		4/12		Gene3D:3.30.70.330,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	90	21540640	21540640	C	G	1	0	0	0	0	1	0	0	0	13322	507	18	4		4	RBMY1A1	24	21540640	Missense_Mutation	SNP	C	C3N-02089_TP	6807162	21540640	35686775	1102	29899											
ERRFI1	0	.	GRCh38	chr1	8014130	8014130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagagggcttcagagattgGcaacggtggaagaggcctag	12	6	17	6	1	1	3	1	0	0	3	1	6	1	4	1	5	1	2	1	5	3	3	novel		C3N-02145_TP	C3N-02145_NB	G	G																c.469C>A	p.Pro157Thr	p.P157T	ENST00000377482	4/4	373	247	126	545	544	1	strelka-varscan-mutect	ERRFI1,missense_variant,p.Pro157Thr,ENST00000377482,NM_018948.3;ERRFI1,3_prime_UTR_variant,,ENST00000467067,;ERRFI1,3_prime_UTR_variant,,ENST00000469499,;ERRFI1,intron_variant,,ENST00000474874,;ERRFI1,3_prime_UTR_variant,,ENST00000487559,;	T	ENST00000377482	Transcript	missense_variant	693/3104	469/1389	157/462	P/T	Cca/Aca		1		-1	ERRFI1	HGNC	HGNC:18185	protein_coding	YES	CCDS94.1	ENSP00000366702	Q9UJM3	I6S2Y9	UPI000012F0FC	NM_018948.3	deleterious(0)		4/4		hmmpanther:PTHR14254																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	91	8014130	8014130	G	T	1	0	0	0	0	1	0	0	0	5102	1203	42	2		2	ERRFI1	1	8014130	Missense_Mutation	SNP	G	C3N-02145_TP		8014130	240942292	1	29900											
CLSTN1	0	.	GRCh38	chr1	9731326	9731326	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggatccgaaatacccccagGataatcatgaacaccaggaa	16	5	8	12	2	1	1	1	1	0	0	2	5	2	4	4	3	2	0	4	3	5	2	novel		C3N-02145_TP	C3N-02145_NB	G	G																c.2628C>G	p.Ile876Met	p.I876M	ENST00000377298	18/19	333	237	96	311	311	0	strelka-varscan-mutect	CLSTN1,missense_variant,p.Ile876Met,ENST00000377298,NM_001302883.1,NM_001009566.2;CLSTN1,missense_variant,p.Ile866Met,ENST00000361311,NM_014944.4;CLSTN1,missense_variant,p.Ile677Met,ENST00000435891,;PIK3CD,downstream_gene_variant,,ENST00000536656,;PIK3CD,downstream_gene_variant,,ENST00000628140,;PIK3CD,downstream_gene_variant,,ENST00000377346,NM_005026.3;PIK3CD,downstream_gene_variant,,ENST00000361110,;PIK3CD,downstream_gene_variant,,ENST00000543390,;CLSTN1,non_coding_transcript_exon_variant,,ENST00000477264,;	C	ENST00000377298	Transcript	missense_variant	3421/5221	2628/2946	876/981	I/M	atC/atG		1		-1	CLSTN1	HGNC	HGNC:17447	protein_coding	YES	CCDS30580.1	ENSP00000366513	O94985		UPI0000127B95	NM_001302883.1,NM_001009566.2	deleterious(0.01)		18/19		Transmembrane_helices:TMhelix,hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	91	9731326	9731326	G	C	1	0	0	0	0	1	0	0	0	3333	1164	41	4		4	CLSTN1	1	9731326	Missense_Mutation	SNP	G	C3N-02145_TP	1717196	9731326	239225096	2	29901											
LEPR	0	.	GRCh38	chr1	65617981	65617981	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaaatatcgtgcagtcaCtcagtgcttatcctttaaac	12	13	6	10	1	2	0	2	0	0	0	4	0	3	0	1	0	3	3	1	0	6	5	novel		C3N-02145_TP	C3N-02145_NB	C	C																c.2230C>A	p.Leu744Ile	p.L744I	ENST00000349533	16/20	277	234	43	383	383	0	strelka-varscan-mutect	LEPR,missense_variant,p.Leu744Ile,ENST00000349533,NM_002303.5;LEPR,missense_variant,p.Leu744Ile,ENST00000371060,NM_001003679.3;LEPR,missense_variant,p.Leu744Ile,ENST00000616738,NM_001198689.1;LEPR,missense_variant,p.Leu744Ile,ENST00000371059,NM_001003680.3,NM_001198687.1;LEPR,missense_variant,p.Leu744Ile,ENST00000344610,NM_001198688.1;LEPR,missense_variant,p.Leu744Ile,ENST00000371058,;LEPR,intron_variant,,ENST00000406510,;LEPR,upstream_gene_variant,,ENST00000471762,;	A	ENST00000349533	Transcript	missense_variant	2415/8227	2230/3498	744/1165	L/I	Ctc/Atc		1		1	LEPR	HGNC	HGNC:6554	protein_coding	YES	CCDS631.1	ENSP00000330393	P48357		UPI000014C37B	NM_002303.5	deleterious(0)		16/20		PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF109,hmmpanther:PTHR23036,PROSITE_patterns:PS01353,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	91	65617981	65617981	C	A	1	0	0	0	0	1	0	0	0	8636	565	20	2		2	LEPR	1	65617981	Missense_Mutation	SNP	C	C3N-02145_TP	55886655	65617981	183338441	3	29902											
PTBP2	0	.	GRCh38	chr1	96777871	96777871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgctgtattgaagataatCacatttacaaaaaataacca	18	11	6	6	0	1	2	1	1	0	1	1	2	1	2	1	1	3	2	1	1	8	6	novel		C3N-02145_TP	C3N-02145_NB	C	C																c.633C>T	p.=	p.I211I	ENST00000370197	7/14	141	117	24	191	191	0	strelka-varscan-mutect	PTBP2,synonymous_variant,p.=,ENST00000609116,NM_001300989.1,NM_001300986.1,NM_001300990.1;PTBP2,synonymous_variant,p.=,ENST00000370197,NM_001300985.1,NM_001300987.1;PTBP2,synonymous_variant,p.=,ENST00000370198,NM_001300988.1;PTBP2,synonymous_variant,p.=,ENST00000426398,NM_021190.3;PTBP2,non_coding_transcript_exon_variant,,ENST00000482253,;PTBP2,non_coding_transcript_exon_variant,,ENST00000476419,;	T	ENST00000370197	Transcript	synonymous_variant	688/3057	633/1614	211/537	I	atC/atT		1		1	PTBP2	HGNC	HGNC:17662	protein_coding	YES	CCDS72828.1	ENSP00000359216	Q9UKA9		UPI0000072708	NM_001300985.1,NM_001300987.1			7/14		PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF400,TIGRFAM_domain:TIGR01649,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	91	96777871	96777871	C	T	1	0	0	0	0	0	0	0	1	12878	816	29	3		3	PTBP2	1	96777871	Silent	SNP	C	C3N-02145_TP	31159890	96777871	152178551	4	29903			1	27		2	2	62	C		6.518004e-05
PTBP2	0	.	GRCh38	chr1	96777932	96777932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtgatccagtaaatgctCaacaagcaaaactagtaagt	17	9	8	7	0	1	1	1	1	0	0	2	1	2	1	1	1	4	4	1	1	8	3	novel		C3N-02145_TP	C3N-02145_NB	C	C																c.694C>G	p.Gln232Glu	p.Q232E	ENST00000370197	7/14	130	103	27	130	130	0	strelka-varscan-mutect	PTBP2,missense_variant,p.Gln232Glu,ENST00000609116,NM_001300989.1,NM_001300986.1,NM_001300990.1;PTBP2,missense_variant,p.Gln232Glu,ENST00000370197,NM_001300985.1,NM_001300987.1;PTBP2,missense_variant,p.Gln232Glu,ENST00000370198,NM_001300988.1;PTBP2,missense_variant,p.Gln232Glu,ENST00000426398,NM_021190.3;PTBP2,non_coding_transcript_exon_variant,,ENST00000482253,;PTBP2,non_coding_transcript_exon_variant,,ENST00000476419,;	G	ENST00000370197	Transcript	missense_variant	749/3057	694/1614	232/537	Q/E	Caa/Gaa		1		1	PTBP2	HGNC	HGNC:17662	protein_coding	YES	CCDS72828.1	ENSP00000359216	Q9UKA9		UPI0000072708	NM_001300985.1,NM_001300987.1	tolerated(0.1)		7/14		PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF400,TIGRFAM_domain:TIGR01649,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	91	96777932	96777932	C	G	1	0	0	0	0	1	0	0	0	12878	827	29	4		4	PTBP2	1	96777932	Missense_Mutation	SNP	C	C3N-02145_TP	61	96777932	152178490	5	29904			1	27		2	2	62	C		6.518004e-05
LAMC1	0	.	GRCh38	chr1	183103514	183103514	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggaggggacgagcagcAggccttgtgtactgatgaat	11	7	16	7	1	0	2	0	2	0	0	0	6	0	4	1	4	3	3	1	4	2	2	novel		C3N-02145_TP	C3N-02145_NB	A	A																c.605A>C	p.Gln202Pro	p.Q202P	ENST00000258341	2/28	165	139	26	218	218	0	strelka-varscan-mutect	LAMC1,missense_variant,p.Gln202Pro,ENST00000258341,NM_002293.3;LAMC1,5_prime_UTR_variant,,ENST00000484114,;	C	ENST00000258341	Transcript	missense_variant	862/7889	605/4830	202/1609	Q/P	cAg/cCg		1		1	LAMC1	HGNC	HGNC:6492	protein_coding	YES	CCDS1351.1	ENSP00000258341	P11047		UPI000013CFC7	NM_002293.3	tolerated(0.12)		2/28		PROSITE_profiles:PS51117,hmmpanther:PTHR10574:SF270,hmmpanther:PTHR10574,Pfam_domain:PF00055,SMART_domains:SM00136																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	91	183103514	183103514	A	C	1	0	0	0	0	1	0	0	0	8518	188	7	5		5	LAMC1	1	183103514	Missense_Mutation	SNP	A	C3N-02145_TP	86325582	183103514	65852908	6	29905											
BAP1	0	.	GRCh38	chr3	52408576	52408576	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccggcgctcttcgatccaTttgaacaggaagataaatcc	12	9	9	11	3	1	2	0	1	1	1	4	5	3	3	3	2	1	1	3	2	4	3	novel		C3N-02145_TP	C3N-02145_NB	T	T																c.153A>G	p.=	p.K51K	ENST00000460680	4/17	183	124	59	291	291	0	strelka-varscan-mutect	BAP1,synonymous_variant,p.=,ENST00000460680,NM_004656.3;BAP1,synonymous_variant,p.=,ENST00000296288,;BAP1,5_prime_UTR_variant,,ENST00000470173,;PHF7,upstream_gene_variant,,ENST00000327906,NM_016483.5;BAP1,upstream_gene_variant,,ENST00000469613,;PHF7,upstream_gene_variant,,ENST00000347025,;PHF7,upstream_gene_variant,,ENST00000614886,NM_001278221.1;PHF7,upstream_gene_variant,,ENST00000615126,;BAP1,upstream_gene_variant,,ENST00000478368,;PHF7,upstream_gene_variant,,ENST00000482327,;PHF7,upstream_gene_variant,,ENST00000472337,;BAP1,non_coding_transcript_exon_variant,,ENST00000483984,;BAP1,intron_variant,,ENST00000490917,;BAP1,upstream_gene_variant,,ENST00000471532,;PHF7,upstream_gene_variant,,ENST00000473145,;BAP1,upstream_gene_variant,,ENST00000490804,;	C	ENST00000460680	Transcript	synonymous_variant	625/3937	153/2190	51/729	K	aaA/aaG		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			4/17		hmmpanther:PTHR10589:SF28,hmmpanther:PTHR10589,Pfam_domain:PF01088,Gene3D:3.40.532.10,Superfamily_domains:SSF54001																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	91	52408576	52408576	T	C	1	0	0	0	0	0	0	0	1	1463	1490	52	5		5	BAP1	3	52408576	Silent	SNP	T	C3N-02145_TP		52408576	145886983	7	29906											
MASP1	0	.	GRCh38	chr3	187220248	187220248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccagagtcacccgcacaGgcgtcctttccccctaggtg	6	8	9	18	2	1	1	1	0	0	1	4	1	4	1	6	2	0	1	6	2	1	2	novel		C3N-02145_TP	C3N-02145_NB	G	G																c.1923C>T	p.=	p.A641A	ENST00000337774	16/16	200	167	33	291	291	0	strelka-varscan	MASP1,synonymous_variant,p.=,ENST00000337774,NM_001879.5;	A	ENST00000337774	Transcript	synonymous_variant	2313/5276	1923/2100	641/699	A	gcC/gcT		1		-1	MASP1	HGNC	HGNC:6901	protein_coding		CCDS33907.1	ENSP00000336792	P48740		UPI0000161FB8	NM_001879.5			16/16		Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001155,Prints_domain:PR00722,PROSITE_patterns:PS00135,PROSITE_profiles:PS50240,hmmpanther:PTHR24255,hmmpanther:PTHR24255:SF13,SMART_domains:SM00020,Superfamily_domains:SSF50494																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	91	187220248	187220248	G	A	1	0	0	0	0	0	0	0	1	9248	987	35	3		3	MASP1	3	187220248	Silent	SNP	G	C3N-02145_TP	134811672	187220248	11075311	8	29907											
C5orf42	0	.	GRCh38	chr5	37186366	37186366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctcacgtcctcaggatagGgaaatgctttcacgaaaatt	12	10	8	11	2	3	0	3	0	0	0	4	3	4	2	2	2	1	1	2	2	4	3	novel		C3N-02145_TP	C3N-02145_NB	G	G																c.4109C>T	p.Pro1370Leu	p.P1370L	ENST00000425232	24/52	172	135	37	297	297	0	strelka-varscan	C5orf42,missense_variant,p.Pro1370Leu,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Pro1370Leu,ENST00000508244,;C5orf42,missense_variant,p.Pro418Leu,ENST00000514429,;C5orf42,missense_variant,p.Pro375Leu,ENST00000509849,;	A	ENST00000425232	Transcript	missense_variant	4340/11199	4109/9594	1370/3197	P/L	cCc/cTc		1		-1	C5orf42	HGNC	HGNC:25801	protein_coding	YES	CCDS34146.2	ENSP00000389014	Q9H799		UPI0001AAB3EA	NM_023073.3	deleterious(0)		24/52		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	91	37186366	37186366	G	A	1	0	0	0	0	1	0	0	0	2100	1232	43	3		3	C5orf42	5	37186366	Missense_Mutation	SNP	G	C3N-02145_TP		37186366	144351893	9	29908											
APC	0	.	GRCh38	chr5	112843749	112843758	+	Frame_Shift_Del	DEL	GAAAATCGCC	GAAAATCGCC	-																															ccatgcgtaccgtgggtttgGaaaatcgcctgaactccttt																								novel		C3N-02145_TP	C3N-02145_NB	GAAAATCGCC	GAAAATCGCC																c.8155_8164delGAAAATCGCC	p.Glu2719Ter	p.E2719*	ENST00000257430	16/16	189	125	64	378	378	0	sindel-varindel-pindel	APC,frameshift_variant,p.Glu2719Ter,ENST00000257430,NM_000038.5;APC,frameshift_variant,p.Glu2719Ter,ENST00000508376,NM_001127510.2;APC,downstream_gene_variant,,ENST00000512211,;APC,downstream_gene_variant,,ENST00000507379,NM_001127511.2;CTC-554D6.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000508624,;APC,downstream_gene_variant,,ENST00000502371,;	-	ENST00000257430	Transcript	frameshift_variant	8211-8220/10701	8155-8164/8532	2719-2722/2843	ENRL/X	GAAAATCGCCtg/tg		1		1	APC	HGNC	HGNC:583	protein_coding	YES	CCDS4107.1	ENSP00000257430	P25054		UPI000013CF60	NM_000038.5			16/16		Pfam_domain:PF05937,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11																	HIGH		deletion	5			1										PASS		.	.												-	7	5	91	112843749	112843749	GAAAATCGCC	-	1	0	1	0	1	0	0	0	0	883	1175	41	0		0	APC	5	112843749	Frame_Shift_Del	DEL	GAAAATCGCC	C3N-02145_TP	75657383	112843749	68694510	10	29909											
FAM71B	0	.	GRCh38	chr5	157163188	157163188	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agactggcggcccccgccatCgaggtggaagtaccttccaa	9	6	12	14	3	0	1	0	0	0	1	2	3	1	2	5	4	1	1	5	4	3	2	rs369213663		C3N-02145_TP	C3N-02145_NB	C	C																c.1077G>A	p.=	p.S359S	ENST00000302938	2/2	178	145	33	301	301	0	strelka-varscan	FAM71B,synonymous_variant,p.=,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;MED7,upstream_gene_variant,,ENST00000524289,;	T	ENST00000302938	Transcript	synonymous_variant	1173/2515	1077/1818	359/605	S	tcG/tcA	rs369213663,COSM260817	1		-1	FAM71B	HGNC	HGNC:28397	protein_coding	YES	CCDS4335.1	ENSP00000305596	Q8TC56	A0A140VJJ4	UPI000006F9DC	NM_130899.2			2/2		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												T	2	4	91	157163188	157163188	C	T	1	0	0	0	0	0	0	0	1	5472	871	31	1		1	FAM71B	5	157163188	Silent	SNP	C	C3N-02145_TP	44319439	157163188	24375071	11	29910											
DEFB133	0	.	GRCh38	chr6	49946121	49946121	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacatataacagttggcatTtagttttgtgcagaaaccaa	14	13	7	7	0	0	1	0	0	0	1	0	1	0	1	1	1	4	4	1	1	6	8	novel		C3N-02145_TP	C3N-02145_NB	T	T																c.166A>C	p.Asn56His	p.N56H	ENST00000398721	2/2	123	114	9	133	133	0	strelka-varscan	DEFB133,missense_variant,p.Asn56His,ENST00000398721,NM_001166478.1;DEFB133,non_coding_transcript_exon_variant,,ENST00000620560,;	G	ENST00000398721	Transcript	missense_variant	166/186	166/186	56/61	N/H	Aat/Cat		1		-1	DEFB133	HGNC	HGNC:31331	protein_coding	YES		ENSP00000485031	Q30KQ1		UPI00005E4A75	NM_001166478.1	deleterious_low_confidence(0.02)		2/2		hmmpanther:PTHR15001:SF26,hmmpanther:PTHR15001,Gene3D:3.10.360.10,Pfam_domain:PF13841,PD968187																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	91	49946121	49946121	T	G	1	0	0	0	0	1	0	0	0	4221	1841	64	5		5	DEFB133	6	49946121	Missense_Mutation	SNP	T	C3N-02145_TP		49946121	120859858	12	29911											
PRDM1	0	.	GRCh38	chr6	106095650	106095650	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtaaagaatacataccaaaGggcacacgttttggacccct	15	8	8	10	1	0	1	0	0	0	1	0	2	0	2	3	2	2	3	3	2	6	5	novel		C3N-02145_TP	C3N-02145_NB	G	G																c.327G>A	p.=	p.K109K	ENST00000369096	3/7	210	184	26	287	287	0	strelka-varscan-mutect	PRDM1,synonymous_variant,p.=,ENST00000369096,NM_001198.3;PRDM1,synonymous_variant,p.=,ENST00000369091,;ATG5,intron_variant,,ENST00000636437,;PRDM1,upstream_gene_variant,,ENST00000369089,NM_182907.2;PRDM1,downstream_gene_variant,,ENST00000424894,;PRDM1,upstream_gene_variant,,ENST00000450060,;RP1-134E15.3,upstream_gene_variant,,ENST00000602426,;PRDM1,non_coding_transcript_exon_variant,,ENST00000489365,;ATG5,intron_variant,,ENST00000636335,;PRDM1,upstream_gene_variant,,ENST00000481163,;	A	ENST00000369096	Transcript	synonymous_variant	561/5164	327/2478	109/825	K	aaG/aaA		1		1	PRDM1	HGNC	HGNC:9346	protein_coding	YES	CCDS5054.2	ENSP00000358092	O75626		UPI0000D49069	NM_001198.3			3/7		Gene3D:2.170.270.10,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50280,SMART_domains:SM00317,Superfamily_domains:SSF82199																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	91	106095650	106095650	G	A	1	0	0	0	0	0	0	0	1	12581	991	35	3		3	PRDM1	6	106095650	Silent	SNP	G	C3N-02145_TP	56149529	106095650	64710329	13	29912											
EGFR	0	.	GRCh38	chr7	55174772	55174786	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-																															aaaattcccgtcgctatcaaGgaattaagagaagcaacatc																								rs121913421		C3N-02145_TP	C3N-02145_NB	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC																c.2235_2249delGGAATTAAGAGAAGC	p.Glu746_Ala750del	p.E746_A750del	ENST00000275493	19/28	537	417	120	697	697	0	sindel-varindel-pindel	EGFR,inframe_deletion,p.Glu746_Ala750del,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000454757,;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	-	ENST00000275493	Transcript	inframe_deletion	2412-2426/9821	2235-2249/3633	745-750/1210	KELREA/K	aaGGAATTAAGAGAAGCa/aaa	rs121913421,COSM6223	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1						MODERATE	1	deletion	1		1,1	1										PASS		.	.												-	7	5	91	55174772	55174772	GGAATTAAGAGAAGC	-	1	0	1	0	1	0	0	0	0	4803	991	35	0		0	EGFR	7	55174772	In_Frame_Del	DEL	GGAATTAAGAGAAGC	C3N-02145_TP		55174772	104171201	14	29913											
WEE2	0	.	GRCh38	chr7	141725119	141725119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgcccaccaatggtgctGcatggcaccatatccgcaag	10	8	9	14	1	0	0	0	0	0	0	1	0	1	0	4	2	3	4	4	2	3	2	novel		C3N-02145_TP	C3N-02145_NB	G	G																c.1315G>T	p.Ala439Ser	p.A439S	ENST00000397541	9/12	200	130	70	283	283	0	strelka-varscan-mutect	WEE2,missense_variant,p.Ala439Ser,ENST00000397541,NM_001105558.1;WEE2,intron_variant,,ENST00000493845,;RNU1-82P,upstream_gene_variant,,ENST00000390851,;WEE2-AS1,intron_variant,,ENST00000488785,;WEE2-AS1,intron_variant,,ENST00000478332,;WEE2-AS1,intron_variant,,ENST00000462383,;WEE2-AS1,intron_variant,,ENST00000495800,;WEE2-AS1,intron_variant,,ENST00000465110,;WEE2-AS1,intron_variant,,ENST00000484172,;WEE2-AS1,intron_variant,,ENST00000486906,;WEE2-AS1,intron_variant,,ENST00000471512,;WEE2-AS1,intron_variant,,ENST00000459753,;WEE2-AS1,downstream_gene_variant,,ENST00000473776,;	T	ENST00000397541	Transcript	missense_variant	1721/3061	1315/1704	439/567	A/S	Gca/Tca		1		1	WEE2	HGNC	HGNC:19684	protein_coding	YES	CCDS43660.1	ENSP00000380675	P0C1S8		UPI000004E9D3	NM_001105558.1	tolerated(0.7)		9/12		PROSITE_profiles:PS50011,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF75,PIRSF_domain:PIRSF037281,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	91	141725119	141725119	G	T	1	0	0	0	0	1	0	0	0	17902	1319	46	2		2	WEE2	7	141725119	Missense_Mutation	SNP	G	C3N-02145_TP	86550347	141725119	17620854	15	29914											
SLC7A2	0	.	GRCh38	chr8	17563626	17563626	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattcttaccatttttgccAgcgttcagcatcttggtgaa	8	15	7	11	1	3	1	1	1	2	0	3	1	3	1	3	1	4	2	3	1	2	6	novel		C3N-02145_TP	C3N-02145_NB	A	A																c.1815A>T	p.=	p.P605P	ENST00000004531	11/12	106	88	18	190	189	1	strelka-varscan-mutect	SLC7A2,synonymous_variant,p.=,ENST00000470360,;SLC7A2,synonymous_variant,p.=,ENST00000494857,NM_001008539.3;SLC7A2,synonymous_variant,p.=,ENST00000004531,NM_001164771.1;SLC7A2,synonymous_variant,p.=,ENST00000398090,NM_003046.5;SLC7A2,synonymous_variant,p.=,ENST00000522656,;	T	ENST00000004531	Transcript	synonymous_variant	1863/7560	1815/2097	605/698	P	ccA/ccT		1		1	SLC7A2	HGNC	HGNC:11060	protein_coding	YES	CCDS55203.1	ENSP00000004531	P52569		UPI0001A336A4	NM_001164771.1			11/12		Pfam_domain:PF13906,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF307,TIGRFAM_domain:TIGR00906,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	91	17563626	17563626	A	T	1	0	0	0	0	0	0	0	1	14980	175	7	4		4	SLC7A2	8	17563626	Silent	SNP	A	C3N-02145_TP		17563626	127575010	16	29915											
STAU2	0	.	GRCh38	chr8	73603745	73603745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatcacaaattctcgaCgtcgaggcattcctctttct	8	13	6	14	3	4	0	1	0	3	0	7	2	5	0	2	1	1	2	2	1	1	3	rs377142999		C3N-02145_TP	C3N-02145_NB	C	C																c.1010G>T	p.Arg337Leu	p.R337L	ENST00000524300	10/15	161	137	24	190	190	0	strelka-varscan-mutect	STAU2,missense_variant,p.Arg305Leu,ENST00000355780,NM_014393.2;STAU2,missense_variant,p.Arg317Leu,ENST00000521727,;STAU2,missense_variant,p.Arg337Leu,ENST00000519961,;STAU2,missense_variant,p.Arg337Leu,ENST00000524300,NM_001164380.1;STAU2,missense_variant,p.Arg117Leu,ENST00000521451,;STAU2,missense_variant,p.Arg305Leu,ENST00000522695,NM_001164381.1;STAU2,missense_variant,p.Arg305Leu,ENST00000522509,NM_001164384.1;STAU2,missense_variant,p.Arg233Leu,ENST00000521210,NM_001164382.1;STAU2,missense_variant,p.Arg299Leu,ENST00000517542,NM_001164385.1;STAU2,missense_variant,p.Arg165Leu,ENST00000523558,NM_001164383.1;STAU2,missense_variant,p.Arg165Leu,ENST00000518767,;STAU2,intron_variant,,ENST00000518502,;STAU2,missense_variant,p.Arg317Leu,ENST00000518981,;	A	ENST00000524300	Transcript	missense_variant	1361/3065	1010/1713	337/570	R/L	cGt/cTt	rs377142999	1		-1	STAU2	HGNC	HGNC:11371	protein_coding	YES	CCDS55247.1	ENSP00000428756		A0A0A0MTC5	UPI000013D271	NM_001164380.1	deleterious(0.01)		10/15		PROSITE_profiles:PS50137,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF60,Pfam_domain:PF00035,Gene3D:3.30.160.20,SMART_domains:SM00358,Superfamily_domains:SSF54768																	MODERATE	1	SNV	2			1										PASS		rs377142999	.												A	3	1	91	73603745	73603745	C	A	1	0	0	0	0	1	0	0	0	15649	536	19	1		1	STAU2	8	73603745	Missense_Mutation	SNP	C	C3N-02145_TP	56040119	73603745	71534891	17	29916											
TDRD7	0	.	GRCh38	chr9	97460414	97460414	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgcacttccgaaagcAtttgaggaaatgtacaaagt	14	9	10	8	1	0	1	0	1	0	0	1	3	1	2	2	1	3	3	2	1	4	3	novel		C3N-02145_TP	C3N-02145_NB	A	A																c.1092A>C	p.=	p.A364A	ENST00000355295	7/17	442	309	133	688	688	0	strelka-varscan-mutect	TDRD7,synonymous_variant,p.=,ENST00000355295,NM_001302884.1,NM_014290.2;	C	ENST00000355295	Transcript	synonymous_variant	1387/3834	1092/3297	364/1098	A	gcA/gcC		1		1	TDRD7	HGNC	HGNC:30831	protein_coding	YES	CCDS6725.1	ENSP00000347444	Q8NHU6		UPI00002114B5	NM_001302884.1,NM_014290.2			7/17		PROSITE_profiles:PS51644																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	91	97460414	97460414	A	C	1	0	0	0	0	0	0	0	1	16145	204	8	5		5	TDRD7	9	97460414	Silent	SNP	A	C3N-02145_TP		97460414	40934303	18	29917											
VWCE	0	.	GRCh38	chr11	61258937	61258937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgagcgctctggagtcacaGgaggtggctgaggagcccct	8	6	16	11	2	2	1	1	1	1	0	2	5	2	4	2	5	2	2	2	5	0	0	novel		C3N-02145_TP	C3N-02145_NB	G	G																c.2606C>T	p.Pro869Leu	p.P869L	ENST00000335613	20/20	53	34	19	70	70	0	strelka-varscan-mutect	VWCE,missense_variant,p.Pro869Leu,ENST00000335613,NM_152718.2;VWCE,missense_variant,p.Pro334Leu,ENST00000535710,;VWCE,synonymous_variant,p.=,ENST00000613271,;VWCE,3_prime_UTR_variant,,ENST00000301770,;VWCE,downstream_gene_variant,,ENST00000538438,;	A	ENST00000335613	Transcript	missense_variant	2993/3640	2606/2868	869/955	P/L	cCt/cTt		1		-1	VWCE	HGNC	HGNC:26487	protein_coding	YES	CCDS8002.1	ENSP00000334186	Q96DN2		UPI000013E751	NM_152718.2	deleterious_low_confidence(0.03)		20/20		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	91	61258937	61258937	G	A	1	0	0	0	0	1	0	0	0	17804	1000	35	3		3	VWCE	11	61258937	Missense_Mutation	SNP	G	C3N-02145_TP		61258937	73827685	19	29918											
DRD2	0	.	GRCh38	chr11	113418085	113418085	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtgcacatcatgacgtccaGagtgacgaagatgtcacagt	12	8	11	10	3	2	4	2	2	0	2	3	5	3	4	1	0	1	1	1	0	1	0	novel		C3N-02145_TP	C3N-02145_NB	G	G																c.337C>T	p.=	p.L113L	ENST00000362072	3/8	443	380	63	580	580	0	strelka-varscan-mutect	DRD2,synonymous_variant,p.=,ENST00000362072,NM_000795.3;DRD2,synonymous_variant,p.=,ENST00000544518,;DRD2,synonymous_variant,p.=,ENST00000542968,;DRD2,synonymous_variant,p.=,ENST00000346454,NM_016574.3;DRD2,synonymous_variant,p.=,ENST00000538967,;DRD2,synonymous_variant,p.=,ENST00000543292,;DRD2,non_coding_transcript_exon_variant,,ENST00000535984,;DRD2,non_coding_transcript_exon_variant,,ENST00000540600,;DRD2,non_coding_transcript_exon_variant,,ENST00000539420,;	A	ENST00000362072	Transcript	synonymous_variant	682/2789	337/1332	113/443	L	Ctg/Ttg		1		-1	DRD2	HGNC	HGNC:3023	protein_coding	YES	CCDS8361.1	ENSP00000354859	P14416	A0A024R3C5	UPI0000001315	NM_000795.3			3/8		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF68,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	91	113418085	113418085	G	A	1	0	0	0	0	0	0	0	1	4576	933	33	3		3	DRD2	11	113418085	Silent	SNP	G	C3N-02145_TP	52159148	113418085	21668537	20	29919											
OR10G7	0	.	GRCh38	chr11	124038928	124038928	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaggaagattccaaagAggggggcgtccagccctggg	10	4	15	12	1	0	2	0	0	0	2	2	3	2	3	5	5	1	0	5	5	2	1	novel		C3N-02145_TP	C3N-02145_NB	A	A																c.74T>A	p.Leu25His	p.L25H	ENST00000330487	1/1	314	289	25	522	522	0	varscan-mutect	OR10G7,missense_variant,p.Leu25His,ENST00000330487,NM_001004463.1;	T	ENST00000330487	Transcript	missense_variant	83/945	74/936	25/311	L/H	cTc/cAc		1		-1	OR10G7	HGNC	HGNC:14842	protein_coding	YES	CCDS31705.1	ENSP00000329689	Q8NGN6	A0A126GWF3	UPI0000040A84	NM_001004463.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	91	124038928	124038928	A	T	1	0	0	0	0	1	0	0	0	10979	304	11	4		4	OR10G7	11	124038928	Missense_Mutation	SNP	A	C3N-02145_TP	10620843	124038928	11047694	21	29920											
PACS2	0	.	GRCh38	chr14	105352455	105352457	+	In_Frame_Del	DEL	CTT	CTT	-																															gagacagacctggccctgacCttctccttgcaggtgagtct																										C3N-02145_TP	C3N-02145_NB	CTT	CTT																c.287_289delTCT	p.Phe96del	p.F96del	ENST00000447393	3/25	215	189	26	278	278	0	sindel-varindel-pindel	PACS2,inframe_deletion,p.Phe96del,ENST00000447393,NM_001100913.2;PACS2,inframe_deletion,p.Phe96del,ENST00000325438,NM_015197.3;PACS2,inframe_deletion,p.Phe29del,ENST00000430725,NM_001243127.2;PACS2,inframe_deletion,p.Phe29del,ENST00000546915,;PACS2,intron_variant,,ENST00000547217,;PACS2,upstream_gene_variant,,ENST00000552138,;PACS2,downstream_gene_variant,,ENST00000548265,;	-	ENST00000447393	Transcript	inframe_deletion	460-462/6365	285-287/2715	95-96/904	TF/T	acCTTc/acc	COSM1368694	1		1	PACS2	HGNC	HGNC:23794	protein_coding	YES	CCDS45178.2	ENSP00000393559	Q86VP3		UPI0000E56F01	NM_001100913.2			3/25		hmmpanther:PTHR13280:SF15,hmmpanther:PTHR13280											1						MODERATE	1	deletion	1	2	1	1										PASS		.	.												-	7	5	91	105352455	105352455	CTT	-	1	0	1	0	1	0	0	0	0	11451	668	24	0		0	PACS2	14	105352455	In_Frame_Del	DEL	CTT	C3N-02145_TP		105352455	1691263	22	29921											
GLG1	0	.	GRCh38	chr16	74469017	74469017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctccttggcttcctgcaGagtgtcattgcgcacggtcg	4	12	13	12	3	1	1	1	0	0	1	4	1	3	1	2	2	3	4	2	2	0	3	novel		C3N-02145_TP	C3N-02145_NB	G	G																c.2365C>T	p.=	p.L789L	ENST00000205061	17/27	189	130	59	305	305	0	strelka-varscan-mutect	GLG1,synonymous_variant,p.=,ENST00000205061,NM_012201.5;GLG1,synonymous_variant,p.=,ENST00000422840,NM_001145667.1;GLG1,synonymous_variant,p.=,ENST00000447066,NM_001145666.1;GLG1,downstream_gene_variant,,ENST00000627032,;GLG1,3_prime_UTR_variant,,ENST00000562090,;GLG1,3_prime_UTR_variant,,ENST00000567951,;GLG1,non_coding_transcript_exon_variant,,ENST00000566601,;GLG1,non_coding_transcript_exon_variant,,ENST00000563432,;GLG1,upstream_gene_variant,,ENST00000561481,;	A	ENST00000205061	Transcript	synonymous_variant	2385/8261	2365/3612	789/1203	L	Ctg/Ttg		1		-1	GLG1	HGNC	HGNC:4316	protein_coding	YES	CCDS32485.1	ENSP00000205061	Q92896		UPI00001FFBD9	NM_012201.5			17/27		hmmpanther:PTHR11884:SF1,hmmpanther:PTHR11884																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	91	74469017	74469017	G	A	1	0	0	0	0	0	0	0	1	6314	933	33	3		3	GLG1	16	74469017	Silent	SNP	G	C3N-02145_TP		74469017	15869328	23	29922											
ZZEF1	0	.	GRCh38	chr17	4070693	4070693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataaagttaccatatttttGcagcttctcatataaatctg	14	16	4	7	0	2	0	1	0	2	0	3	0	2	0	1	0	3	3	1	0	8	8	novel		C3N-02145_TP	C3N-02145_NB	G	G																c.4066C>A	p.Gln1356Lys	p.Q1356K	ENST00000381638	26/55	137	128	9	209	207	2	varscan-mutect	ZZEF1,missense_variant,p.Gln1356Lys,ENST00000381638,NM_015113.3;ZZEF1,non_coding_transcript_exon_variant,,ENST00000572426,;ZZEF1,intron_variant,,ENST00000570365,;ZZEF1,downstream_gene_variant,,ENST00000572699,;	T	ENST00000381638	Transcript	missense_variant	4191/11456	4066/8886	1356/2961	Q/K	Caa/Aaa		1		-1	ZZEF1	HGNC	HGNC:29027	protein_coding	YES	CCDS11043.1	ENSP00000371051	O43149		UPI00004569F7	NM_015113.3	tolerated(0.39)		26/55		hmmpanther:PTHR22772:SF4,hmmpanther:PTHR22772																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	91	4070693	4070693	G	T	1	0	0	0	0	1	0	0	0	18859	1328	46	2		2	ZZEF1	17	4070693	Missense_Mutation	SNP	G	C3N-02145_TP		4070693	79186748	24	29923											
WSB1	0	.	GRCh38	chr17	27310119	27310119	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcaaatgaccggtgggtaCgatctgtatcttttagccat	10	12	11	8	2	2	1	0	1	2	0	2	3	2	1	2	2	3	3	2	2	4	4			C3N-02145_TP	C3N-02145_NB	C	C																c.943C>T	p.Arg315Ter	p.R315*	ENST00000262394	7/9	317	288	29	365	365	0	strelka-varscan-mutect	WSB1,stop_gained,p.Arg315Ter,ENST00000262394,NM_015626.8;WSB1,stop_gained,p.Arg169Ter,ENST00000348811,NM_134265.2;WSB1,downstream_gene_variant,,ENST00000581185,;WSB1,downstream_gene_variant,,ENST00000579733,;WSB1,downstream_gene_variant,,ENST00000427287,;WSB1,downstream_gene_variant,,ENST00000583193,;WSB1,downstream_gene_variant,,ENST00000584114,;WSB1,non_coding_transcript_exon_variant,,ENST00000467843,;WSB1,non_coding_transcript_exon_variant,,ENST00000583096,;WSB1,downstream_gene_variant,,ENST00000487603,;WSB1,downstream_gene_variant,,ENST00000582208,;	T	ENST00000262394	Transcript	stop_gained	1259/5139	943/1266	315/421	R/*	Cga/Tga	COSM4064808	1		1	WSB1	HGNC	HGNC:19221	protein_coding	YES	CCDS11220.1	ENSP00000262394	Q9Y6I7	A0A024QZ51	UPI0000031568	NM_015626.8			7/9		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR15622:SF12,hmmpanther:PTHR15622,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978											1						HIGH	1	SNV	1		1	1										PASS		rs1243405786	.												T	4	4	91	27310119	27310119	C	T	1	0	0	0	0	0	1	0	0	17961	528	19	1		1	WSB1	17	27310119	Nonsense_Mutation	SNP	C	C3N-02145_TP	23239426	27310119	55947322	25	29924											
ERAL1	0	.	GRCh38	chr17	28860514	28860514	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatggacatcttcctctgCgatgttgacatccgcctctc	6	13	7	15	2	4	1	1	1	3	0	7	3	6	2	3	1	1	1	3	1	0	2	rs541436173		C3N-02145_TP	C3N-02145_NB	C	C																c.1275C>T	p.=	p.C425C	ENST00000254928	10/10	180	165	15	214	214	0	strelka-varscan-mutect	ERAL1,synonymous_variant,p.=,ENST00000254928,NM_001317985.1,NM_005702.2;ERAL1,intron_variant,,ENST00000583487,;ERAL1,downstream_gene_variant,,ENST00000580917,;MIR4732,downstream_gene_variant,,ENST00000582320,;MIR4732,downstream_gene_variant,,ENST00000384886,;MIR4732,downstream_gene_variant,,ENST00000581873,;MIR4732,downstream_gene_variant,,ENST00000385059,;MIR451B,upstream_gene_variant,,ENST00000636285,;ERAL1,downstream_gene_variant,,ENST00000578001,;ERAL1,3_prime_UTR_variant,,ENST00000461894,;ERAL1,non_coding_transcript_exon_variant,,ENST00000471992,;ERAL1,downstream_gene_variant,,ENST00000412138,;ERAL1,downstream_gene_variant,,ENST00000577942,;	T	ENST00000254928	Transcript	synonymous_variant	1372/1925	1275/1314	425/437	C	tgC/tgT	rs541436173,COSM3378114	1		1	ERAL1	HGNC	HGNC:3424	protein_coding	YES	CCDS11244.1	ENSP00000254928	O75616		UPI000006DECC	NM_001317985.1,NM_005702.2			10/10		HAMAP:MF_00367,hmmpanther:PTHR11649,hmmpanther:PTHR11649:SF3,Gene3D:3.30.300.20,Superfamily_domains:SSF54814											0,1						LOW	1	SNV	1		0,1	1										PASS		rs541436173	.												T	2	4	91	28860514	28860514	C	T	1	0	0	0	0	0	0	0	1	5051	776	27	1		1	ERAL1	17	28860514	Silent	SNP	C	C3N-02145_TP	1550395	28860514	54396927	26	29925											
ANKRD30B	0	.	GRCh38	chr18	14797838	14797838	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttagaattaaaggacagAgaaacactcaaagcaggtac	18	6	9	8	0	1	2	1	0	0	2	1	4	1	3	1	2	3	2	1	2	7	3	rs529980396		C3N-02145_TP	C3N-02145_NB	A	A																c.2013A>G	p.=	p.R671R	ENST00000358984	20/36	226	207	19	262	262	0	varscan-mutect	ANKRD30B,synonymous_variant,p.=,ENST00000358984,NM_001145029.1;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000579292,;ANKRD30B,3_prime_UTR_variant,,ENST00000580206,;	G	ENST00000358984	Transcript	synonymous_variant	2193/4359	2013/4179	671/1392	R	agA/agG	rs529980396	1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1			20/36																			LOW	1	SNV	1			1										PASS		rs529980396	.												G	2	3	91	14797838	14797838	A	G	1	0	0	0	0	0	0	0	1	762	301	11	5		5	ANKRD30B	18	14797838	Silent	SNP	A	C3N-02145_TP		14797838	65575447	27	29926											
FFAR2	0	.	GRCh38	chr19	35450155	35450155	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccatcgtgatcatcgtTcaatacttgaacacgactga	12	11	7	11	3	2	3	2	3	0	0	4	4	2	3	1	0	3	2	1	0	3	3	novel		C3N-02145_TP	C3N-02145_NB	T	T																c.441T>C	p.=	p.V147V	ENST00000599180	2/2	223	206	17	330	330	0	strelka-varscan-mutect	FFAR2,synonymous_variant,p.=,ENST00000599180,;FFAR2,synonymous_variant,p.=,ENST00000246549,NM_005306.2;FFAR2,intron_variant,,ENST00000601590,;	C	ENST00000599180	Transcript	synonymous_variant	521/2133	441/993	147/330	V	gtT/gtC		1		1	FFAR2	HGNC	HGNC:4501	protein_coding	YES	CCDS12461.1	ENSP00000473159	O15552	C6KYL4	UPI0000050459				2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF8,Superfamily_domains:SSF81321																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	91	35450155	35450155	T	C	1	0	0	0	0	0	0	0	1	5691	1770	62	5		5	FFAR2	19	35450155	Silent	SNP	T	C3N-02145_TP		35450155	23167461	28	29927											
SULT2A1	0	.	GRCh38	chr19	47874836	47874836	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatggttcttcctgtgtccTaaaaaagaaaaatcaagaga	16	11	7	7	0	2	2	1	0	1	2	4	3	4	2	2	1	0	1	2	1	7	4	novel		C3N-02145_TP	C3N-02145_NB	T	T																c.568-2A>T		p.X190_splice	ENST00000222002		102	96	6	150	149	1	varscan-mutect	SULT2A1,splice_acceptor_variant,,ENST00000222002,NM_003167.3;	A	ENST00000222002	Transcript	splice_acceptor_variant	-/1987	568/858	190/285				1		-1	SULT2A1	HGNC	HGNC:11458	protein_coding	YES	CCDS12707.1	ENSP00000222002	Q06520	A8K015	UPI000013C7E8	NM_003167.3				4/5																		HIGH	1	SNV	1			1										PASS		rs1461637923	.												A	5	1	91	47874836	47874836	T	A	1	0	0	0	0	0	0	1	0	15767	1536	53	4		4	SULT2A1	19	47874836	Splice_Site	SNP	T	C3N-02145_TP	12424681	47874836	10742780	29	29928											
SHISA7	0	.	GRCh38	chr19	55442682	55442682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcccgcggggccggtcctgGtgccgttggcgcctgggctc	0	7	18	16	6	0	0	0	0	0	0	2	0	1	0	5	6	1	2	5	6	0	1	novel		C3N-02145_TP	C3N-02145_NB	G	G																c.182C>A	p.Thr61Asn	p.T61N	ENST00000376325	1/4	33	19	14	52	52	0	strelka-varscan-mutect	SHISA7,missense_variant,p.Thr61Asn,ENST00000376325,NM_001145176.1;SHISA7,upstream_gene_variant,,ENST00000416792,;	T	ENST00000376325	Transcript	missense_variant	182/6033	182/1617	61/538	T/N	aCc/aAc		1		-1	SHISA7	HGNC	HGNC:35409	protein_coding	YES	CCDS46193.1	ENSP00000365503	A6NL88		UPI000193055E	NM_001145176.1	deleterious_low_confidence(0.01)		1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF2																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	91	55442682	55442682	G	T	1	0	0	0	0	1	0	0	0	14545	1261	44	2		2	SHISA7	19	55442682	Missense_Mutation	SNP	G	C3N-02145_TP	7567846	55442682	3174934	30	29929											
DCAF8L2	0	.	GRCh38	chrX	27747330	27747330	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggaggaggaggaggaggaAgaagaacagcctcgggcggg	13	1	22	5	2	0	2	0	0	0	2	1	9	0	8	1	8	2	0	1	8	3	0	rs751450520		C3N-02145_TP	C3N-02145_NB	A	A																c.435A>G	p.=	p.E145E	ENST00000451261	5/5	101	93	8	200	199	1	varscan-mutect	DCAF8L2,synonymous_variant,p.=,ENST00000451261,;DCAF8L2,synonymous_variant,p.=,ENST00000545306,NM_001136533.1;DCAF8L2,downstream_gene_variant,,ENST00000431122,;DCAF8L2,downstream_gene_variant,,ENST00000583068,;	G	ENST00000451261	Transcript	synonymous_variant	834/2295	435/1896	145/631	E	gaA/gaG	rs751450520,COSM1467346,COSM5089239	1		1	DCAF8L2	HGNC	HGNC:31811	protein_coding	YES	CCDS59162.1	ENSP00000462745	P0C7V8		UPI000183CBD9				5/5		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg											0,1,1						LOW	1	SNV	4		0,1,1	1										PASS		rs751450520	.												G	2	3	91	27747330	27747330	A	G	1	0	0	0	0	0	0	0	1	4079	69	3	5		5	DCAF8L2	23	27747330	Silent	SNP	A	C3N-02145_TP		27747330	128293565	31	29930											
PORCN	0	.	GRCh38	chrX	48516106	48516106	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtgcctgtgtcttgtCaaagcggtgcccgccagact	6	10	11	14	2	3	1	2	0	1	1	3	1	3	1	4	1	3	0	4	1	1	1	novel		C3N-02145_TP	C3N-02145_NB	C	C																c.1133C>A	p.Ser378Ter	p.S378*	ENST00000326194	12/14	743	661	82	702	701	1	strelka-varscan-mutect	PORCN,stop_gained,p.Ser372Ter,ENST00000359882,NM_203474.1;PORCN,stop_gained,p.Ser373Ter,ENST00000355961,NM_203473.2;PORCN,stop_gained,p.Ser378Ter,ENST00000326194,NM_203475.2;PORCN,stop_gained,p.Ser367Ter,ENST00000361988,NM_022825.3;PORCN,stop_gained,p.Ser322Ter,ENST00000355092,NM_001282167.1;PORCN,stop_gained,p.Ser373Ter,ENST00000537758,;PORCN,stop_gained,p.Ser372Ter,ENST00000367574,;PORCN,downstream_gene_variant,,ENST00000489940,;PORCN,downstream_gene_variant,,ENST00000486272,;PORCN,3_prime_UTR_variant,,ENST00000485288,;PORCN,3_prime_UTR_variant,,ENST00000472520,;PORCN,non_coding_transcript_exon_variant,,ENST00000491243,;PORCN,non_coding_transcript_exon_variant,,ENST00000459953,;PORCN,downstream_gene_variant,,ENST00000528612,;PORCN,downstream_gene_variant,,ENST00000470275,;	A	ENST00000326194	Transcript	stop_gained	1176/1755	1133/1386	378/461	S/*	tCa/tAa		1		1	PORCN	HGNC	HGNC:17652	protein_coding	YES	CCDS14299.1	ENSP00000322304	Q9H237		UPI000014187F	NM_203475.2			12/14		hmmpanther:PTHR13906,hmmpanther:PTHR13906:SF13																	HIGH	1	SNV	1			1										PASS		rs1064795419	.												A	4	1	91	48516106	48516106	C	A	1	0	0	0	0	0	1	0	0	12372	838	29	2		2	PORCN	23	48516106	Nonsense_Mutation	SNP	C	C3N-02145_TP	20768776	48516106	107524789	32	29931											
TENM1	0	.	GRCh38	chrX	124641808	124641808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacctgttgagcagtcagatCctgtccacttgggatcacag	9	10	10	12	0	2	2	2	1	0	1	4	3	4	3	3	1	1	2	3	1	0	2	novel		C3N-02145_TP	C3N-02145_NB	C	C																c.2060G>A	p.Gly687Glu	p.G687E	ENST00000422452	11/32	394	288	106	411	411	0	strelka-varscan-mutect	TENM1,missense_variant,p.Gly687Glu,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,missense_variant,p.Gly687Glu,ENST00000371130,NM_014253.3;	T	ENST00000422452	Transcript	missense_variant	2124/12891	2060/8199	687/2732	G/E	gGa/gAa		1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1	deleterious(0)		11/32		PROSITE_profiles:PS50026,hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,SMART_domains:SM00181																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	91	124641808	124641808	C	T	1	0	0	0	0	1	0	0	0	16171	855	30	3		3	TENM1	23	124641808	Missense_Mutation	SNP	C	C3N-02145_TP	76125702	124641808	31399087	33	29932											
CFAP74	0	.	GRCh38	chr1	1926734	1926734	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccaccgtcgggcaccaCagctccaggtacagggtgtt	7	7	14	13	2	0	0	0	0	0	0	2	0	1	0	4	4	3	4	4	4	1	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.3690G>A	p.=	p.L1230L	ENST00000493964	30/38	308	270	38	344	344	0	strelka-varscan-mutect	CFAP74,synonymous_variant,p.=,ENST00000493964,NM_001304360.1;CFAP74,non_coding_transcript_exon_variant,,ENST00000464311,;CFAP74,non_coding_transcript_exon_variant,,ENST00000412120,;	T	ENST00000493964	Transcript	synonymous_variant	3846/5247	3690/4755	1230/1584	L	ctG/ctA		1		-1	CFAP74	HGNC	HGNC:29368	protein_coding	YES		ENSP00000417061	Q9C0B2		UPI0004620AE2	NM_001304360.1			30/38		hmmpanther:PTHR22538																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	92	1926734	1926734	C	T	1	0	0	0	0	0	0	0	1	3033	465	17	3		3	CFAP74	1	1926734	Silent	SNP	C	C3N-02149_TP		1926734	247029688	1	29933											
CCDC27	0	.	GRCh38	chr1	3763184	3763184	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggaggacgagggcctggAaggggagcccgatggggtgg	8	3	23	7	3	0	0	0	0	0	0	0	7	0	4	2	9	1	0	2	9	1	0	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1031A>T	p.Glu344Val	p.E344V	ENST00000294600	7/12	46	38	8	73	72	1	strelka-varscan-mutect	CCDC27,missense_variant,p.Glu344Val,ENST00000294600,NM_152492.2;CCDC27,3_prime_UTR_variant,,ENST00000462521,;	T	ENST00000294600	Transcript	missense_variant	1115/2176	1031/1971	344/656	E/V	gAa/gTa		1		1	CCDC27	HGNC	HGNC:26546	protein_coding	YES	CCDS50.1	ENSP00000294600	Q2M243		UPI000013E186	NM_152492.2	tolerated(0.21)		7/12		Low_complexity_(Seg):seg,hmmpanther:PTHR18853:SF8,hmmpanther:PTHR18853																	MODERATE	1	SNV	1			1										PASS		rs944169953	.												T	3	4	92	3763184	3763184	A	T	1	0	0	0	0	1	0	0	0	2511	246	9	4		4	CCDC27	1	3763184	Missense_Mutation	SNP	A	C3N-02149_TP	1836450	3763184	245193238	2	29934											
AJAP1	0	.	GRCh38	chr1	4712045	4712045	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccgcggtcgccgcccCggccgccccggctgtggagt	1	6	15	19	7	0	0	0	0	0	0	2	1	1	1	8	4	1	1	8	4	0	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.175C>A	p.=	p.R59R	ENST00000378191	2/6	126	99	27	181	181	0	strelka-varscan-mutect	AJAP1,synonymous_variant,p.=,ENST00000378191,NM_018836.3;AJAP1,synonymous_variant,p.=,ENST00000378190,NM_001042478.1;AJAP1,non_coding_transcript_exon_variant,,ENST00000466761,;	A	ENST00000378191	Transcript	synonymous_variant	556/11666	175/1236	59/411	R	Cgg/Agg		1		1	AJAP1	HGNC	HGNC:30801	protein_coding	YES	CCDS54.1	ENSP00000367433	Q9UKB5		UPI00000728B8	NM_018836.3			2/6		Low_complexity_(Seg):seg,hmmpanther:PTHR32422																	LOW	1	SNV	1			1										PASS		rs1342432950	.												A	2	1	92	4712045	4712045	C	A	1	0	0	0	0	0	0	0	1	516	643	23	1		1	AJAP1	1	4712045	Silent	SNP	C	C3N-02149_TP	948861	4712045	244244377	3	29935											
DRAXIN	0	.	GRCh38	chr1	11706436	11706436	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccagccaccaccgccggCggggcccgggcaagaaggag	9	0	17	15	4	0	1	0	0	0	1	0	2	0	2	6	6	1	1	6	6	2	0	rs202026446		C3N-02149_TP	C3N-02149_NB	C	C																c.178C>A	p.=	p.R60R	ENST00000294485	2/7	155	121	34	169	169	0	strelka-varscan-mutect	DRAXIN,synonymous_variant,p.=,ENST00000294485,NM_198545.3;	A	ENST00000294485	Transcript	synonymous_variant	313/7346	178/1050	60/349	R	Cgg/Agg	rs202026446,COSM3417929	1		1	DRAXIN	HGNC	HGNC:25054	protein_coding	YES	CCDS135.1	ENSP00000294485	Q8NBI3		UPI000013E16C	NM_198545.3			2/7		HAMAP:MF_03060,Pfam_domain:PF15550,hmmpanther:PTHR28610											0,1						LOW	1	SNV	1		0,1	1										PASS		rs202026446	.												A	2	1	92	11706436	11706436	C	A	1	0	0	0	0	0	0	0	1	4571	759	27	1		1	DRAXIN	1	11706436	Silent	SNP	C	C3N-02149_TP	6994391	11706436	237249986	4	29936											
PRDM2	0	.	GRCh38	chr1	13779769	13779769	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaaacagactctgacccCatggtcccctcttgctcttt	7	11	7	16	1	3	2	0	1	3	1	4	3	4	2	5	1	2	1	5	1	1	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1974C>T	p.=	p.P658P	ENST00000235372	8/10	182	145	37	281	281	0	strelka-varscan-mutect	PRDM2,synonymous_variant,p.=,ENST00000235372,NM_012231.4;PRDM2,synonymous_variant,p.=,ENST00000311066,NM_015866.4;PRDM2,synonymous_variant,p.=,ENST00000413440,NM_001007257.2;PRDM2,synonymous_variant,p.=,ENST00000343137,;PRDM2,intron_variant,,ENST00000376048,NM_001135610.1;PRDM2,intron_variant,,ENST00000503842,;PRDM2,intron_variant,,ENST00000505823,;PRDM2,downstream_gene_variant,,ENST00000487453,;PRDM2,downstream_gene_variant,,ENST00000407521,;PRDM2,intron_variant,,ENST00000491134,;	T	ENST00000235372	Transcript	synonymous_variant	2830/7957	1974/5157	658/1718	P	ccC/ccT		1		1	PRDM2	HGNC	HGNC:9347	protein_coding	YES	CCDS150.1	ENSP00000235372	Q13029		UPI000013C9CD	NM_012231.4			8/10		Low_complexity_(Seg):seg,PIRSF_domain:PIRSF002395																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	13779769	13779769	C	T	1	0	0	0	0	0	0	0	1	12589	581	21	3		3	PRDM2	1	13779769	Silent	SNP	C	C3N-02149_TP	2073333	13779769	235176653	5	29937											
PRDM2	0	.	GRCh38	chr1	13823184	13823184	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgacctggaatcagtgAagccaaagggactggcagtc	13	6	14	8	0	1	2	1	2	0	0	2	5	1	4	2	3	1	1	2	3	4	0	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.681A>G	p.Ter227TrpextTer103	p.*227Wext*103	ENST00000376048	8/8	245	195	50	348	348	0	strelka-varscan-mutect	PRDM2,stop_lost,p.Ter227TrpextTer103,ENST00000376048,NM_001135610.1;PRDM2,stop_lost,p.Ter63TrpextTer103,ENST00000503842,;PRDM2,stop_lost,p.Ter63TrpextTer?,ENST00000505823,;PRDM2,3_prime_UTR_variant,,ENST00000235372,NM_012231.4;	G	ENST00000376048	Transcript	stop_lost	807/2688	681/681	227/226	*/W	tgA/tgG		1		1	PRDM2	HGNC	HGNC:9347	protein_coding		CCDS44061.1	ENSP00000365216	Q13029		UPI00001408AA	NM_001135610.1			8/8																			HIGH		SNV	2			1										PASS		.	.												G	4	3	92	13823184	13823184	A	G	1	0	0	0	0	0	0	0	0	12589	259	9	5		5	PRDM2	1	13823184	Nonstop_Mutation	SNP	A	C3N-02149_TP	43415	13823184	235133238	6	29938											
PADI3	0	.	GRCh38	chr1	17249215	17249215	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctggcgtggagaccctCgtggacatttatgggtaaga	8	10	16	7	2	0	2	0	0	0	2	1	4	0	3	1	5	0	2	1	5	2	3			C3N-02149_TP	C3N-02149_NB	C	C																c.78C>A	p.=	p.L26L	ENST00000375460	1/16	316	257	59	376	375	1	strelka-varscan-mutect	PADI3,synonymous_variant,p.=,ENST00000375460,NM_016233.2;PADI1,downstream_gene_variant,,ENST00000375471,NM_013358.2;PADI1,downstream_gene_variant,,ENST00000460293,;	A	ENST00000375460	Transcript	synonymous_variant	118/3189	78/1995	26/664	L	ctC/ctA	COSM414302,COSM5475583	1		1	PADI3	HGNC	HGNC:18337	protein_coding	YES	CCDS179.1	ENSP00000364609	Q9ULW8		UPI000013D8A0	NM_016233.2			1/16		Pfam_domain:PF08526,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF10,Superfamily_domains:SSF49503											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	92	17249215	17249215	C	A	1	0	0	0	0	0	0	0	1	11457	871	31	1		1	PADI3	1	17249215	Silent	SNP	C	C3N-02149_TP	3426031	17249215	231707207	7	29939											
PADI3	0	.	GRCh38	chr1	17259699	17259699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcggtggcgctttgacGcgactttggagatcatcgtg	6	10	15	10	5	1	2	1	1	0	1	2	4	1	2	1	4	0	1	1	4	0	2	rs201806996		C3N-02149_TP	C3N-02149_NB	G	G																c.214G>T	p.Ala72Ser	p.A72S	ENST00000375460	2/16	93	81	12	111	111	0	strelka-varscan-mutect	PADI3,missense_variant,p.Ala72Ser,ENST00000375460,NM_016233.2;	T	ENST00000375460	Transcript	missense_variant	254/3189	214/1995	72/664	A/S	Gcg/Tcg	rs201806996	1		1	PADI3	HGNC	HGNC:18337	protein_coding	YES	CCDS179.1	ENSP00000364609	Q9ULW8		UPI000013D8A0	NM_016233.2	tolerated(0.17)		2/16		Pfam_domain:PF08526,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF10,Superfamily_domains:SSF49503																	MODERATE	1	SNV	1			1										PASS		rs201806996	.												T	3	4	92	17259699	17259699	G	T	1	0	0	0	0	1	0	0	0	11457	1087	38	1		1	PADI3	1	17259699	Missense_Mutation	SNP	G	C3N-02149_TP	10484	17259699	231696723	8	29940											
RHCE	0	.	GRCh38	chr1	25408732	25408732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaactggctcaggaagcCgtccagcaggattgcccact	10	6	13	12	1	1	0	1	0	0	0	2	3	2	3	3	4	4	2	3	4	2	1	rs144348222		C3N-02149_TP	C3N-02149_NB	C	C																c.286G>T	p.Gly96Cys	p.G96C	ENST00000294413	2/10	299	215	84	285	285	0	strelka-varscan-mutect	RHCE,missense_variant,p.Gly80Cys,ENST00000349320,;RHCE,missense_variant,p.Gly96Cys,ENST00000294413,NM_020485.4;RHCE,missense_variant,p.Gly96Cys,ENST00000349438,NM_138618.3;RHCE,missense_variant,p.Gly96Cys,ENST00000413854,;RHCE,missense_variant,p.Gly96Cys,ENST00000340849,NM_138617.3;RHCE,missense_variant,p.Gly96Cys,ENST00000346452,NM_138616.3;RHCE,non_coding_transcript_exon_variant,,ENST00000495048,;RHCE,non_coding_transcript_exon_variant,,ENST00000527187,;RHCE,intron_variant,,ENST00000533771,;	A	ENST00000294413	Transcript	missense_variant	345/1591	286/1254	96/417	G/C	Ggc/Tgc	rs144348222,CM066600,BGMUT_678	1		-1	RHCE	HGNC	HGNC:10008	protein_coding	YES	CCDS30635.1	ENSP00000294413	P18577		UPI00001D9627	NM_020485.4	deleterious(0.01)		2/10		hmmpanther:PTHR11730:SF43,hmmpanther:PTHR11730,Gene3D:1.10.3430.10,Pfam_domain:PF00909,Superfamily_domains:0044218																	MODERATE	1	SNV	1		0,1,0	1										PASS		rs144348222	.												A	3	1	92	25408732	25408732	C	A	1	0	0	0	0	1	0	0	0	13497	652	23	1		1	RHCE	1	25408732	Missense_Mutation	SNP	C	C3N-02149_TP	8149033	25408732	223547690	9	29941											
PLK3	0	.	GRCh38	chr1	44800672	44800672	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaggccgcttgttgggcaAggtgggccgagggacgtccg	7	6	18	10	4	0	0	0	0	0	0	1	2	1	1	3	5	0	3	3	5	2	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.209A>T	p.Lys70Met	p.K70M	ENST00000372201	1/15	209	184	25	193	193	0	strelka-varscan-mutect	PLK3,missense_variant,p.Lys70Met,ENST00000372201,NM_004073.2;PLK3,splice_region_variant,,ENST00000465443,;PLK3,upstream_gene_variant,,ENST00000492398,;PLK3,upstream_gene_variant,,ENST00000493100,;PLK3,upstream_gene_variant,,ENST00000461358,;PLK3,upstream_gene_variant,,ENST00000476731,;PLK3,upstream_gene_variant,,ENST00000461769,;	T	ENST00000372201	Transcript	missense_variant,splice_region_variant	448/2492	209/1941	70/646	K/M	aAg/aTg		1		1	PLK3	HGNC	HGNC:2154	protein_coding	YES	CCDS515.1	ENSP00000361275	Q9H4B4		UPI000013ED1D	NM_004073.2	deleterious(0)		1/15		PROSITE_profiles:PS50011,hmmpanther:PTHR24345,hmmpanther:PTHR24345:SF42,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	44800672	44800672	A	T	1	0	0	0	0	1	0	0	0	12192	86	3	4		4	PLK3	1	44800672	Missense_Mutation	SNP	A	C3N-02149_TP	19391940	44800672	204155750	10	29942											
ZSWIM5	0	.	GRCh38	chr1	45058738	45058738	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgctccattggaatctcTcatccgcagcatttctcgaa	8	13	6	14	2	3	0	1	0	2	0	7	2	5	1	3	1	2	3	3	1	2	3	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1123A>G	p.Arg375Gly	p.R375G	ENST00000359600	4/14	329	168	161	229	228	1	strelka-varscan-mutect	ZSWIM5,missense_variant,p.Arg375Gly,ENST00000359600,NM_020883.1;	C	ENST00000359600	Transcript	missense_variant	1329/5819	1123/3558	375/1185	R/G	Aga/Gga		1		-1	ZSWIM5	HGNC	HGNC:29299	protein_coding	YES	CCDS41319.1	ENSP00000352614	Q9P217		UPI00001C1D76	NM_020883.1	deleterious(0.03)		4/14		hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	45058738	45058738	T	C	1	0	0	0	0	1	0	0	0	18845	1559	54	5		5	ZSWIM5	1	45058738	Missense_Mutation	SNP	T	C3N-02149_TP	258066	45058738	203897684	11	29943											
MMACHC	0	.	GRCh38	chr1	45500370	45500370	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgaagcagaagatcgAggacacgctatgtccttttg	12	9	12	8	2	0	4	0	1	0	3	2	6	1	5	1	1	2	3	1	1	3	3	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.38A>T	p.Glu13Val	p.E13V	ENST00000401061	1/4	840	457	383	627	627	0	strelka-varscan-mutect	MMACHC,missense_variant,p.Glu13Val,ENST00000401061,NM_015506.2;MMACHC,5_prime_UTR_variant,,ENST00000616135,;CCDC163P,upstream_gene_variant,,ENST00000626657,;CCDC163P,upstream_gene_variant,,ENST00000629482,;CCDC163P,upstream_gene_variant,,ENST00000629009,;CCDC163P,upstream_gene_variant,,ENST00000628397,;CCDC163P,upstream_gene_variant,,ENST00000626177,;CCDC163P,upstream_gene_variant,,ENST00000625766,;CCDC163P,upstream_gene_variant,,ENST00000628293,;CCDC163P,upstream_gene_variant,,ENST00000629670,;	T	ENST00000401061	Transcript	missense_variant	318/5296	38/849	13/282	E/V	gAg/gTg		1		1	MMACHC	HGNC	HGNC:24525	protein_coding	YES	CCDS41324.1	ENSP00000383840	Q9Y4U1		UPI00001C1D6D	NM_015506.2	deleterious(0.03)		1/4		hmmpanther:PTHR31457																	MODERATE		SNV	2			1										PASS		rs1010232462	.												T	3	4	92	45500370	45500370	A	T	1	0	0	0	0	1	0	0	0	9604	304	11	4		4	MMACHC	1	45500370	Missense_Mutation	SNP	A	C3N-02149_TP	441632	45500370	203456052	12	29944											
ERICH3	0	.	GRCh38	chr1	74572583	74572583	+	Frame_Shift_Del	DEL	C	C	-																															aatttctttcctatcatcttCcctattagcttctgcctcag																								rs767836444		C3N-02149_TP	C3N-02149_NB	C	C																c.3127delG	p.Glu1043LysfsTer12	p.E1043Kfs*12	ENST00000326665	14/15	258	209	49	423	423	0	sindel-varindel-pindel	ERICH3,frameshift_variant,p.Glu1043LysfsTer12,ENST00000326665,NM_001002912.4;ERICH3-AS1,upstream_gene_variant,,ENST00000612390,;ERICH3,non_coding_transcript_exon_variant,,ENST00000433746,;ERICH3,downstream_gene_variant,,ENST00000614534,;	-	ENST00000326665	Transcript	frameshift_variant	3346/7159	3127/4593	1043/1530	E/X	Gaa/aa	rs767836444	1		-1	ERICH3	HGNC	HGNC:25346	protein_coding	YES	CCDS30755.1	ENSP00000322609	Q5RHP9		UPI0000237200	NM_001002912.4			14/15		hmmpanther:PTHR23034																	HIGH		deletion	5			1										PASS		.	.												-	7	5	92	74572583	74572583	C	-	1	0	1	0	1	0	0	0	0	5083	864	30	0		0	ERICH3	1	74572583	Frame_Shift_Del	DEL	C	C3N-02149_TP	29072213	74572583	174383839	13	29945											
AK5	0	.	GRCh38	chr1	77287049	77287049	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctgtgacaaggtgaaatggGatacatttgtaagccaggaa	14	9	13	5	0	0	2	0	2	0	0	0	4	0	4	1	3	2	2	1	3	5	3	rs370854870		C3N-02149_TP	C3N-02149_NB	G	G																c.169G>C	p.Asp57His	p.D57H	ENST00000354567	2/14	248	224	24	199	199	0	strelka-varscan-mutect	AK5,missense_variant,p.Asp31His,ENST00000344720,NM_012093.3;AK5,missense_variant,p.Asp57His,ENST00000354567,NM_174858.2;AK5,missense_variant,p.Asp31His,ENST00000478407,;AK5,non_coding_transcript_exon_variant,,ENST00000317704,;	C	ENST00000354567	Transcript	missense_variant	432/3251	169/1689	57/562	D/H	Gat/Cat	rs370854870	1		1	AK5	HGNC	HGNC:365	protein_coding	YES	CCDS675.1	ENSP00000346577	Q9Y6K8		UPI0000167E20	NM_174858.2	deleterious(0)		2/14		hmmpanther:PTHR23359:SF79,hmmpanther:PTHR23359																	MODERATE	1	SNV	1			1										PASS		rs370854870	.												C	3	2	92	77287049	77287049	G	C	1	0	0	0	0	1	0	0	0	522	1174	41	4		4	AK5	1	77287049	Missense_Mutation	SNP	G	C3N-02149_TP	2714466	77287049	171669373	14	29946											
COL11A1	0	.	GRCh38	chr1	102886979	102886979	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atattatcatctgcatctgcTtgcatgccttcagtatgtct	8	17	6	10	0	5	0	2	0	3	0	5	0	5	0	1	0	4	4	1	0	3	5			C3N-02149_TP	C3N-02149_NB	T	T																c.4686A>C	p.Gln1562His	p.Q1562H	ENST00000370096	63/67	414	388	26	516	516	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Gln1574His,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Gln1562His,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Gln1523His,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Gln1446His,ENST00000512756,NM_080630.3;COL11A1,3_prime_UTR_variant,,ENST00000635193,;	G	ENST00000370096	Transcript	missense_variant	4999/7286	4686/5421	1562/1806	Q/H	caA/caC	COSM893100,COSM893101	1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	deleterious(0.02)		63/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	92	102886979	102886979	T	G	1	0	0	0	0	1	0	0	0	3455	1606	56	5		5	COL11A1	1	102886979	Missense_Mutation	SNP	T	C3N-02149_TP	25599930	102886979	146069443	15	29947											
COL11A1	0	.	GRCh38	chr1	102913639	102913639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attagtgcatttactcaccgGttgaccaggatctccatctt	9	14	7	11	1	3	1	1	1	2	0	4	2	3	2	3	2	2	2	3	2	2	5	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.4030C>A	p.Pro1344Thr	p.P1344T	ENST00000370096	53/67	246	203	43	401	401	0	strelka-varscan-mutect	COL11A1,missense_variant,p.Pro1356Thr,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Pro1344Thr,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Pro1305Thr,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Pro1228Thr,ENST00000512756,NM_080630.3;COL11A1,splice_region_variant,,ENST00000635193,;	T	ENST00000370096	Transcript	missense_variant,splice_region_variant	4343/7286	4030/5421	1344/1806	P/T	Ccg/Acg		1		-1	COL11A1	HGNC	HGNC:2186	protein_coding	YES	CCDS778.1	ENSP00000359114	P12107		UPI00002053EF	NM_001854.3	tolerated(0.2)		53/67		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	102913639	102913639	G	T	1	0	0	0	0	1	0	0	0	3455	1275	44	2		2	COL11A1	1	102913639	Missense_Mutation	SNP	G	C3N-02149_TP	26660	102913639	146042783	16	29948											
RBM15	0	.	GRCh38	chr1	110341724	110341724	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccagaaacaggatgggggGacagcccctgtggcatcagc	10	5	14	12	0	1	1	1	0	0	1	2	3	2	3	3	5	3	1	3	5	1	0	rs187367667		C3N-02149_TP	C3N-02149_NB	G	G																c.2319G>T	p.=	p.G773G	ENST00000369784	1/3	217	202	15	328	327	1	strelka-varscan-mutect	RBM15,synonymous_variant,p.=,ENST00000369784,;RBM15,synonymous_variant,p.=,ENST00000618772,NM_022768.4;RBM15,synonymous_variant,p.=,ENST00000602849,;RBM15,synonymous_variant,p.=,ENST00000487146,NM_001201545.1;RBM15,synonymous_variant,p.=,ENST00000617047,;RP5-1074L1.1,upstream_gene_variant,,ENST00000449169,;	T	ENST00000369784	Transcript	synonymous_variant	3219/4244	2319/2934	773/977	G	ggG/ggT	rs187367667	1		1	RBM15	HGNC	HGNC:14959	protein_coding	YES	CCDS822.1	ENSP00000358799	Q96T37		UPI000013E1C5				1/3		hmmpanther:PTHR23189:SF43,hmmpanther:PTHR23189																	LOW	1	SNV	1			1										PASS		rs187367667	.												T	2	4	92	110341724	110341724	G	T	1	0	0	0	0	0	0	0	1	13282	1161	41	2		2	RBM15	1	110341724	Silent	SNP	G	C3N-02149_TP	7428085	110341724	138614698	17	29949											
SLC16A1	0	.	GRCh38	chr1	112917849	112917849	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccagcaacacagcagtttAgtagcaagcccccaagaatt	14	7	7	13	0	0	1	0	0	0	1	1	1	1	1	3	0	5	5	3	0	6	4	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.557T>C	p.Leu186Pro	p.L186P	ENST00000538576	4/5	134	109	25	203	203	0	strelka-varscan	SLC16A1,missense_variant,p.Leu186Pro,ENST00000538576,NM_001166496.1;SLC16A1,missense_variant,p.Leu186Pro,ENST00000369626,NM_003051.3;SLC16A1,missense_variant,p.Leu186Pro,ENST00000458229,;SLC16A1,missense_variant,p.Leu186Pro,ENST00000443580,;SLC16A1,missense_variant,p.Leu186Pro,ENST00000429288,;SLC16A1,downstream_gene_variant,,ENST00000481750,;	G	ENST00000538576	Transcript	missense_variant	1389/4374	557/1503	186/500	L/P	cTa/cCa		1		-1	SLC16A1	HGNC	HGNC:10922	protein_coding	YES	CCDS858.1	ENSP00000441065	P53985	A0A024R0H1	UPI00000012F5	NM_001166496.1	deleterious(0)		4/5		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF24,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00892,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	92	112917849	112917849	A	G	1	0	0	0	0	1	0	0	0	14668	420	15	5		5	SLC16A1	1	112917849	Missense_Mutation	SNP	A	C3N-02149_TP	2576125	112917849	136038573	18	29950											
SETDB1	0	.	GRCh38	chr1	150927957	150927957	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggctcacgttgaccaactCtttgatgatgcatccaggtg	8	12	11	10	1	2	3	1	3	1	0	3	3	3	3	2	2	2	3	2	2	1	2			C3N-02149_TP	C3N-02149_NB	C	C																c.243C>G	p.=	p.L81L	ENST00000271640	2/22	193	163	30	207	207	0	strelka-varscan-mutect	SETDB1,synonymous_variant,p.=,ENST00000271640,NM_001145415.1;SETDB1,synonymous_variant,p.=,ENST00000368969,NM_012432.3;SETDB1,synonymous_variant,p.=,ENST00000498193,;SETDB1,synonymous_variant,p.=,ENST00000534805,;SETDB1,synonymous_variant,p.=,ENST00000368962,NM_001243491.1;SETDB1,synonymous_variant,p.=,ENST00000368963,;SETDB1,synonymous_variant,p.=,ENST00000448029,;SETDB1,synonymous_variant,p.=,ENST00000423081,;SETDB1,synonymous_variant,p.=,ENST00000525956,;SETDB1,non_coding_transcript_exon_variant,,ENST00000459773,;SETDB1,non_coding_transcript_exon_variant,,ENST00000487584,;SETDB1,synonymous_variant,p.=,ENST00000368964,;SETDB1,non_coding_transcript_exon_variant,,ENST00000481219,;SETDB1,non_coding_transcript_exon_variant,,ENST00000463774,;	G	ENST00000271640	Transcript	synonymous_variant	433/4437	243/3876	81/1291	L	ctC/ctG	COSM1583406,COSM895626	1		1	SETDB1	HGNC	HGNC:10761	protein_coding	YES	CCDS44217.1	ENSP00000271640	Q15047		UPI0000135897	NM_001145415.1			2/22		PROSITE_profiles:PS51573											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												G	2	3	92	150927957	150927957	C	G	1	0	0	0	0	0	0	0	1	14416	900	32	4		4	SETDB1	1	150927957	Silent	SNP	C	C3N-02149_TP	38010108	150927957	98028465	19	29951											
FAM63A	0	.	GRCh38	chr1	151002559	151002559	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatggttttcagggatgActgcttctgcagtcccggcc	5	12	11	13	1	3	1	2	1	1	0	4	2	4	2	3	3	2	3	3	3	0	3	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.203T>A	p.Val68Asp	p.V68D	ENST00000361738	3/11	360	305	55	361	361	0	strelka-varscan-mutect	FAM63A,missense_variant,p.Val20Asp,ENST00000361936,NM_018379.4;FAM63A,missense_variant,p.Val20Asp,ENST00000622754,;FAM63A,missense_variant,p.Val68Asp,ENST00000361738,NM_001163258.1;FAM63A,intron_variant,,ENST00000312210,NM_001040217.2,NM_001163260.1;FAM63A,intron_variant,,ENST00000493834,NM_001163259.1;FAM63A,upstream_gene_variant,,ENST00000497067,;FAM63A,intron_variant,,ENST00000470877,;	T	ENST00000361738	Transcript	missense_variant	423/1961	203/1554	68/517	V/D	gTc/gAc		1		-1	FAM63A	HGNC	HGNC:25648	protein_coding	YES	CCDS53361.1	ENSP00000354669	Q8N5J2		UPI0001AE7915	NM_001163258.1	tolerated_low_confidence(0.07)		3/11		hmmpanther:PTHR18063,hmmpanther:PTHR18063:SF7																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	92	151002559	151002559	A	T	1	0	0	0	0	1	0	0	0	5462	275	10	4		4	FAM63A	1	151002559	Missense_Mutation	SNP	A	C3N-02149_TP	74602	151002559	97953863	20	29952											
SNX27	0	.	GRCh38	chr1	151692565	151692565	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaactgcatgcctgcaCtgaagaaggacagctggagg	12	8	12	9	0	0	2	0	1	0	1	0	4	0	4	1	3	5	3	1	3	4	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1370C>G	p.Thr457Ser	p.T457S	ENST00000368843	9/12	163	144	19	137	137	0	strelka-varscan-mutect	SNX27,missense_variant,p.Thr457Ser,ENST00000368843,NM_030918.5;SNX27,missense_variant,p.Thr457Ser,ENST00000458013,;SNX27,missense_variant,p.Thr364Ser,ENST00000368838,;SNX27,3_prime_UTR_variant,,ENST00000368841,;	G	ENST00000368843	Transcript	missense_variant	1490/7197	1370/1587	457/528	T/S	aCt/aGt		1		1	SNX27	HGNC	HGNC:20073	protein_coding	YES	CCDS1001.1	ENSP00000357836	Q96L92		UPI00001A962E	NM_030918.5	tolerated(0.48)		9/12		hmmpanther:PTHR12431,hmmpanther:PTHR12431:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	151692565	151692565	C	G	1	0	0	0	0	1	0	0	0	15218	565	20	4		4	SNX27	1	151692565	Missense_Mutation	SNP	C	C3N-02149_TP	690006	151692565	97263857	21	29953											
HRNR	0	.	GRCh38	chr1	152214686	152214686	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagacccatgttggccgtAgctggaagagtgcccggaac	9	6	14	12	2	0	2	0	0	0	2	0	4	0	4	4	3	3	3	4	3	3	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.6943T>G	p.Tyr2315Asp	p.Y2315D	ENST00000368801	3/3	318	295	23	382	379	3	varscan-mutect	HRNR,missense_variant,p.Tyr2315Asp,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	C	ENST00000368801	Transcript	missense_variant	7019/9623	6943/8553	2315/2850	Y/D	Tac/Gac		1		-1	HRNR	HGNC	HGNC:20846	protein_coding	YES	CCDS30859.1	ENSP00000357791	Q86YZ3		UPI00001D7CAD	NM_001009931.2	deleterious(0.04)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	152214686	152214686	A	C	1	0	0	0	0	1	0	0	0	7254	420	15	5		5	HRNR	1	152214686	Missense_Mutation	SNP	A	C3N-02149_TP	522121	152214686	96741736	22	29954											
LCE1B	0	.	GRCh38	chr1	152812658	152812658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggggttgctgcagttctgGgggaggtggctgctgcctga	3	11	20	7	0	1	1	0	1	1	0	1	2	1	2	1	6	4	6	1	6	0	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.212G>T	p.Gly71Val	p.G71V	ENST00000360090	1/1	309	254	55	395	394	1	strelka-varscan-mutect	LCE1B,missense_variant,p.Gly71Val,ENST00000360090,NM_178349.1;	T	ENST00000360090	Transcript	missense_variant	688/1139	212/357	71/118	G/V	gGg/gTg		1		1	LCE1B	HGNC	HGNC:16611	protein_coding	YES	CCDS1027.1	ENSP00000353203	Q5T7P3		UPI000014099C	NM_178349.1	deleterious_low_confidence(0)		1/1		Pfam_domain:PF14672,hmmpanther:PTHR23263,Low_complexity_(Seg):seg																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	92	152812658	152812658	G	T	1	0	0	0	0	1	0	0	0	8565	1232	43	2		2	LCE1B	1	152812658	Missense_Mutation	SNP	G	C3N-02149_TP	597972	152812658	96143764	23	29955											
SLC39A1	0	.	GRCh38	chr1	153960582	153960582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccactcgcctgtgggaccCctggcccatcatgccaatgc	6	8	9	18	1	1	0	1	0	0	0	3	1	2	1	6	2	2	0	6	2	1	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.491G>T	p.Gly164Val	p.G164V	ENST00000368623	3/3	240	198	42	244	244	0	strelka-varscan-mutect	SLC39A1,missense_variant,p.Gly164Val,ENST00000368623,;SLC39A1,missense_variant,p.Gly164Val,ENST00000310483,NM_014437.4;SLC39A1,missense_variant,p.Gly164Val,ENST00000368621,NM_001271957.1;SLC39A1,missense_variant,p.Gly164Val,ENST00000621013,NM_001271959.1;SLC39A1,missense_variant,p.Gly164Val,ENST00000617697,NM_001271960.1;SLC39A1,missense_variant,p.Gly164Val,ENST00000356205,NM_001271958.1;SLC39A1,missense_variant,p.Gly164Val,ENST00000429040,;SLC39A1,missense_variant,p.Gly164Val,ENST00000413622,;SLC39A1,missense_variant,p.Gly164Val,ENST00000417348,;SLC39A1,3_prime_UTR_variant,,ENST00000537590,NM_001271961.1;CRTC2,upstream_gene_variant,,ENST00000368633,NM_181715.2;CRTC2,upstream_gene_variant,,ENST00000368630,;MIR6737,downstream_gene_variant,,ENST00000617385,;RP11-422P24.12,upstream_gene_variant,,ENST00000633140,;SLC39A1,downstream_gene_variant,,ENST00000461071,;CRTC2,upstream_gene_variant,,ENST00000476883,;CRTC2,upstream_gene_variant,,ENST00000492073,;CRTC2,upstream_gene_variant,,ENST00000303569,;CRTC2,upstream_gene_variant,,ENST00000487235,;	A	ENST00000368623	Transcript	missense_variant	1251/2723	491/975	164/324	G/V	gGg/gTg		1		-1	SLC39A1	HGNC	HGNC:12876	protein_coding	YES	CCDS1055.1	ENSP00000357612	Q9NY26		UPI000006DDFE		deleterious(0.04)		3/3		Pfam_domain:PF02535,hmmpanther:PTHR11040,hmmpanther:PTHR11040:SF58																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	153960582	153960582	C	A	1	0	0	0	0	1	0	0	0	14890	623	22	2		2	SLC39A1	1	153960582	Missense_Mutation	SNP	C	C3N-02149_TP	1147924	153960582	94995840	24	29956											
CHRNB2	0	.	GRCh38	chr1	154572061	154572061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctgcaccagtggcgggccCcgggcgctcaggggagccgt	4	4	18	15	4	1	0	1	0	0	0	1	1	1	1	5	5	2	2	5	5	0	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1238C>A	p.Pro413His	p.P413H	ENST00000368476	5/6	89	74	15	58	58	0	strelka-varscan-mutect	CHRNB2,missense_variant,p.Pro413His,ENST00000368476,NM_000748.2;CHRNB2,missense_variant,p.Pro415His,ENST00000637900,;CHRNB2,upstream_gene_variant,,ENST00000635876,;CHRNB2,missense_variant,p.Pro413His,ENST00000636034,;CHRNB2,downstream_gene_variant,,ENST00000636695,;	A	ENST00000368476	Transcript	missense_variant	1502/5867	1238/1509	413/502	P/H	cCc/cAc		1		1	CHRNB2	HGNC	HGNC:1962	protein_coding	YES	CCDS1070.1	ENSP00000357461	P17787	Q5SXY3	UPI000012526E	NM_000748.2	tolerated(0.4)		5/6		Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF80,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	154572061	154572061	C	A	1	0	0	0	0	1	0	0	0	3151	623	22	2		2	CHRNB2	1	154572061	Missense_Mutation	SNP	C	C3N-02149_TP	611479	154572061	94384361	25	29957											
KIAA0907	0	.	GRCh38	chr1	155921507	155921507	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcactatgcttggtactccGtagggaggttgaactggctg	7	11	15	8	1	0	1	0	1	0	0	1	2	1	2	1	5	3	6	1	5	4	5	rs201266630		C3N-02149_TP	C3N-02149_NB	G	G																c.1134C>G	p.Tyr378Ter	p.Y378*	ENST00000368321	10/14	347	322	25	501	501	0	strelka-varscan-mutect	KIAA0907,stop_gained,p.Tyr378Ter,ENST00000368320,;KIAA0907,stop_gained,p.Tyr378Ter,ENST00000368321,NM_014949.3;KIAA0907,missense_variant,p.Arg345Gly,ENST00000368319,;SNORA80E,upstream_gene_variant,,ENST00000384744,;SCARNA4,downstream_gene_variant,,ENST00000625402,;SCARNA4,downstream_gene_variant,,ENST00000629045,;KIAA0907,non_coding_transcript_exon_variant,,ENST00000482337,;KIAA0907,non_coding_transcript_exon_variant,,ENST00000478002,;KIAA0907,non_coding_transcript_exon_variant,,ENST00000483237,;KIAA0907,downstream_gene_variant,,ENST00000466713,;KIAA0907,upstream_gene_variant,,ENST00000465953,;KIAA0907,upstream_gene_variant,,ENST00000466520,;	C	ENST00000368321	Transcript	stop_gained	1158/2947	1134/1845	378/614	Y/*	taC/taG	rs201266630	1		-1	KIAA0907	HGNC	HGNC:29145	protein_coding	YES	CCDS30885.1	ENSP00000357304	Q7Z7F0		UPI00001A36E0	NM_014949.3			10/14		Low_complexity_(Seg):seg,hmmpanther:PTHR15744:SF0,hmmpanther:PTHR15744																	HIGH	1	SNV	1			1										PASS		rs201266630	.												C	4	2	92	155921507	155921507	G	C	1	0	0	0	0	0	1	0	0	8094	1149	40	4		4	KIAA0907	1	155921507	Nonsense_Mutation	SNP	G	C3N-02149_TP	1349446	155921507	93034915	26	29958											
FCRL5	0	.	GRCh38	chr1	157521280	157521280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagggtgaggaccgggCgagacaccggaactgaaaga	12	3	16	10	3	0	5	0	3	0	2	0	8	0	7	3	4	1	0	3	4	2	0	rs752277017		C3N-02149_TP	C3N-02149_NB	C	C																c.2252G>T	p.Arg751Leu	p.R751L	ENST00000361835	11/17	134	113	21	169	169	0	strelka-varscan-mutect	FCRL5,missense_variant,p.Arg751Leu,ENST00000361835,NM_001195388.1,NM_031281.2;FCRL5,downstream_gene_variant,,ENST00000368190,;FCRL5,non_coding_transcript_exon_variant,,ENST00000461387,;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,;FCRL5,upstream_gene_variant,,ENST00000483875,;	A	ENST00000361835	Transcript	missense_variant	2410/5390	2252/2934	751/977	R/L	cGc/cTc	rs752277017	1		-1	FCRL5	HGNC	HGNC:18508	protein_coding	YES	CCDS1165.1	ENSP00000354691	Q96RD9		UPI0000458907	NM_001195388.1,NM_031281.2	tolerated(0.25)		11/17		Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs752277017	.												A	3	1	92	157521280	157521280	C	A	1	0	0	0	0	1	0	0	0	5660	768	27	1		1	FCRL5	1	157521280	Missense_Mutation	SNP	C	C3N-02149_TP	1599773	157521280	91435142	27	29959											
SPTA1	0	.	GRCh38	chr1	158636676	158636676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgggccaccagctccccctCtaggcgtttgtgcttcttca	5	12	9	15	1	3	0	1	0	2	0	4	0	4	0	4	2	2	3	4	2	1	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.5275G>C	p.Glu1759Gln	p.E1759Q	ENST00000368147	37/52	428	397	31	519	519	0	strelka-varscan-mutect	SPTA1,missense_variant,p.Glu1759Gln,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000461624,;SPTA1,downstream_gene_variant,,ENST00000465741,;	G	ENST00000368147	Transcript	missense_variant	5456/7999	5275/7260	1759/2419	E/Q	Gag/Cag		1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2	deleterious(0.04)		37/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	158636676	158636676	C	G	1	0	0	0	0	1	0	0	0	15472	922	32	4		4	SPTA1	1	158636676	Missense_Mutation	SNP	C	C3N-02149_TP	1115396	158636676	90319746	28	29960											
OR6K6	0	.	GRCh38	chr1	158755229	158755229	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccactcacttggtatcacAgaaagctgtgtcctgacagc	10	11	8	12	0	2	2	2	1	0	1	4	2	4	2	2	1	2	2	2	1	2	3	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.414A>G	p.=	p.T138T	ENST00000368144	1/1	278	239	39	312	312	0	strelka-varscan-mutect	OR6K6,synonymous_variant,p.=,ENST00000368144,NM_001005184.1;	G	ENST00000368144	Transcript	synonymous_variant	510/1172	414/1032	138/343	T	acA/acG		1		1	OR6K6	HGNC	HGNC:15033	protein_coding	YES	CCDS30904.1	ENSP00000357126	Q8NGW6		UPI000015F229	NM_001005184.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF132,hmmpanther:PTHR26451,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												G	2	3	92	158755229	158755229	A	G	1	0	0	0	0	0	0	0	1	11273	175	7	5		5	OR6K6	1	158755229	Silent	SNP	A	C3N-02149_TP	118553	158755229	90201193	29	29961											
MNDA	0	.	GRCh38	chr1	158847816	158847816	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggaaaatggcacaataTcaagtgtgagaaaggagata	18	7	13	3	0	1	2	1	1	0	2	1	6	1	3	0	3	0	1	0	3	7	2	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1076T>G	p.Ile359Ser	p.I359S	ENST00000368141	6/7	264	241	23	330	328	2	strelka-varscan-mutect	MNDA,missense_variant,p.Ile359Ser,ENST00000368141,NM_002432.1;MNDA,missense_variant,p.Ile65Ser,ENST00000438394,;	G	ENST00000368141	Transcript	missense_variant	1337/1752	1076/1224	359/407	I/S	aTc/aGc		1		1	MNDA	HGNC	HGNC:7183	protein_coding	YES	CCDS1177.1	ENSP00000357123	P41218	Q5VUU6	UPI0000001609	NM_002432.1	deleterious(0)		6/7		Gene3D:2.40.50.140,Pfam_domain:PF02760,PROSITE_profiles:PS50834,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF18,Superfamily_domains:SSF159141																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	158847816	158847816	T	G	1	0	0	0	0	1	0	0	0	9640	1435	50	5		5	MNDA	1	158847816	Missense_Mutation	SNP	T	C3N-02149_TP	92587	158847816	90108606	30	29962											
PYHIN1	0	.	GRCh38	chr1	158942101	158942101	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcctcagaaaatgagcAaagaagaatgtttcatgcta	17	10	8	6	0	2	5	2	2	0	3	3	5	3	5	1	0	2	3	1	0	7	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.704A>T	p.Gln235Leu	p.Q235L	ENST00000368140	5/9	284	244	40	328	327	1	strelka-varscan-mutect	PYHIN1,missense_variant,p.Gln235Leu,ENST00000368140,NM_152501.4;PYHIN1,missense_variant,p.Gln226Leu,ENST00000368138,NM_198928.4;PYHIN1,missense_variant,p.Gln235Leu,ENST00000392254,NM_198929.4;PYHIN1,missense_variant,p.Gln226Leu,ENST00000392252,NM_198930.3;PYHIN1,downstream_gene_variant,,ENST00000368135,;PYHIN1,downstream_gene_variant,,ENST00000458222,;PYHIN1,non_coding_transcript_exon_variant,,ENST00000485134,;	T	ENST00000368140	Transcript	missense_variant	949/2083	704/1479	235/492	Q/L	cAa/cTa		1		1	PYHIN1	HGNC	HGNC:28894	protein_coding	YES	CCDS1178.1	ENSP00000357122	Q6K0P9		UPI0000225618	NM_152501.4	tolerated(0.06)		5/9		Gene3D:2.40.50.140,Pfam_domain:PF02760,PROSITE_profiles:PS50834,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF14,Superfamily_domains:SSF159141																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	158942101	158942101	A	T	1	0	0	0	0	1	0	0	0	13019	130	5	4		4	PYHIN1	1	158942101	Missense_Mutation	SNP	A	C3N-02149_TP	94285	158942101	90014321	31	29963											
NCSTN	0	.	GRCh38	chr1	160356659	160356659	+	Frame_Shift_Del	DEL	G	G	-																															ccaccaacaccacttatgttGtacagtatgccttggcaaat																								rs200141699		C3N-02149_TP	C3N-02149_NB	G	G																c.1699delG	p.Val567TyrfsTer8	p.V567Yfs*8	ENST00000294785	15/17	277	232	45	377	377	0	sindel-varindel-pindel	NCSTN,frameshift_variant,p.Val547TyrfsTer8,ENST00000368063,NM_001290184.1;NCSTN,frameshift_variant,p.Val567TyrfsTer8,ENST00000294785,NM_001290186.1,NM_015331.2;NCSTN,frameshift_variant,p.Val244TyrfsTer8,ENST00000435149,;NCSTN,downstream_gene_variant,,ENST00000424645,;NCSTN,downstream_gene_variant,,ENST00000421914,;NCSTN,downstream_gene_variant,,ENST00000424754,;NCSTN,non_coding_transcript_exon_variant,,ENST00000491390,;NCSTN,downstream_gene_variant,,ENST00000459963,;NCSTN,upstream_gene_variant,,ENST00000469159,;	-	ENST00000294785	Transcript	frameshift_variant	1824/2936	1699/2130	567/709	V/X	Gta/ta	rs200141699	1		1	NCSTN	HGNC	HGNC:17091	protein_coding	YES	CCDS1203.1	ENSP00000294785	Q92542		UPI0000042050	NM_001290186.1,NM_015331.2			15/17		hmmpanther:PTHR21092:SF0,hmmpanther:PTHR21092																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	92	160356659	160356659	G	-	1	0	1	0	1	0	0	0	0	10261	1377	48	0		0	NCSTN	1	160356659	Frame_Shift_Del	DEL	G	C3N-02149_TP	1414558	160356659	88599763	32	29964											
NECTIN4	0	.	GRCh38	chr1	161074251	161074251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgggccttgcgccgatGgtatcgggacatgagcacca	7	8	14	12	3	0	1	0	1	0	0	1	3	0	2	3	3	3	3	3	3	1	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1123C>T	p.His375Tyr	p.H375Y	ENST00000368012	6/9	613	558	55	570	568	2	strelka-varscan-mutect	NECTIN4,missense_variant,p.His375Tyr,ENST00000368012,NM_030916.2;ARHGAP30,upstream_gene_variant,,ENST00000368013,NM_001287600.1,NM_001025598.1;ARHGAP30,upstream_gene_variant,,ENST00000368015,NM_001287602.1;ARHGAP30,upstream_gene_variant,,ENST00000368016,NM_181720.2;NECTIN4,non_coding_transcript_exon_variant,,ENST00000486694,;ARHGAP30,upstream_gene_variant,,ENST00000461003,;ARHGAP30,upstream_gene_variant,,ENST00000490279,;ARHGAP30,upstream_gene_variant,,ENST00000368018,;ARHGAP30,upstream_gene_variant,,ENST00000471492,;	A	ENST00000368012	Transcript	missense_variant	1426/3502	1123/1533	375/510	H/Y	Cat/Tat		1		-1	NECTIN4	HGNC	HGNC:19688	protein_coding	YES	CCDS1216.1	ENSP00000356991	Q96NY8	K4PZ75	UPI000006F072	NM_030916.2	tolerated(0.12)		6/9		hmmpanther:PTHR23277:SF11,hmmpanther:PTHR23277																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	161074251	161074251	G	A	1	0	0	0	0	1	0	0	0	10336	1348	47	3		3	NECTIN4	1	161074251	Missense_Mutation	SNP	G	C3N-02149_TP	717592	161074251	87882171	33	29965											
ADAMTS4	0	.	GRCh38	chr1	161192079	161192079	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaacctgaatttcctgaaGgagcctgactgcttgctgca	11	10	10	10	0	0	4	0	3	0	1	1	5	1	5	3	1	5	3	3	1	4	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.2073C>A	p.=	p.S691S	ENST00000367996	8/9	161	130	31	159	158	1	strelka-varscan-mutect	ADAMTS4,synonymous_variant,p.=,ENST00000367996,NM_005099.4;ADAMTS4,downstream_gene_variant,,ENST00000367995,;ADAMTS4,downstream_gene_variant,,ENST00000478394,;	T	ENST00000367996	Transcript	synonymous_variant	2502/9773	2073/2514	691/837	S	tcC/tcA		1		-1	ADAMTS4	HGNC	HGNC:220	protein_coding	YES	CCDS1223.1	ENSP00000356975	O75173		UPI000014194C	NM_005099.4			8/9		hmmpanther:PTHR13723:SF38,hmmpanther:PTHR13723,Pfam_domain:PF05986																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	161192079	161192079	G	T	1	0	0	0	0	0	0	0	1	312	987	35	2		2	ADAMTS4	1	161192079	Silent	SNP	G	C3N-02149_TP	117828	161192079	87764343	34	29966											
OLFML2B	0	.	GRCh38	chr1	162000266	162000266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacctcaggcagagccagggGtcgcgtctgcagaagttcga	9	6	14	12	3	2	2	1	0	1	2	4	3	2	2	2	3	2	3	2	3	1	1	rs146317042		C3N-02149_TP	C3N-02149_NB	G	G																c.799C>A	p.Pro267Thr	p.P267T	ENST00000367940	5/8	273	239	34	288	287	1	strelka-varscan-mutect	OLFML2B,missense_variant,p.Pro266Thr,ENST00000294794,NM_015441.2;OLFML2B,missense_variant,p.Pro267Thr,ENST00000367940,NM_001297713.1;	T	ENST00000367940	Transcript	missense_variant	1009/2685	799/2256	267/751	P/T	Ccc/Acc	rs146317042	1		-1	OLFML2B	HGNC	HGNC:24558	protein_coding	YES	CCDS72966.1	ENSP00000356917		F2Z3N3	UPI0001AE79B2	NM_001297713.1	tolerated(0.38)		5/8		hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37																	MODERATE	1	SNV	2			1										PASS		rs146317042	.												T	3	4	92	162000266	162000266	G	T	1	0	0	0	0	1	0	0	0	10933	1261	44	2		2	OLFML2B	1	162000266	Missense_Mutation	SNP	G	C3N-02149_TP	808187	162000266	86956156	35	29967											
CEP350	0	.	GRCh38	chr1	180034046	180034046	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatctgaacccggcagccAgcagaacaacgacagagaac	15	3	10	13	2	1	4	0	2	1	2	1	6	1	4	2	1	6	2	2	1	4	0	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.3910A>T	p.Ser1304Cys	p.S1304C	ENST00000367607	16/38	272	224	48	335	335	0	strelka-varscan	CEP350,missense_variant,p.Ser1304Cys,ENST00000367607,NM_014810.4;	T	ENST00000367607	Transcript	missense_variant	4328/13491	3910/9354	1304/3117	S/C	Agc/Tgc		1		1	CEP350	HGNC	HGNC:24238	protein_coding	YES	CCDS1336.1	ENSP00000356579	Q5VT06		UPI000013CFC5	NM_014810.4	deleterious(0)		16/38		hmmpanther:PTHR13958:SF4,hmmpanther:PTHR13958																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	180034046	180034046	A	T	1	0	0	0	0	1	0	0	0	2972	188	7	4		4	CEP350	1	180034046	Missense_Mutation	SNP	A	C3N-02149_TP	18033780	180034046	68922376	36	29968											
PRG4	0	.	GRCh38	chr1	186301648	186301648	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagggagggagtgtgacTgcgacgcccaatgtaagaag	13	5	17	6	2	0	3	0	1	0	2	0	7	0	5	1	2	1	1	1	2	3	1	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.256T>A	p.Cys86Ser	p.C86S	ENST00000445192	4/13	619	516	103	754	754	0	strelka-varscan	PRG4,missense_variant,p.Cys86Ser,ENST00000445192,NM_005807.4;PRG4,missense_variant,p.Cys45Ser,ENST00000367483,NM_001127708.2;PRG4,missense_variant,p.Cys86Ser,ENST00000635041,NM_001303232.1;PRG4,missense_variant,p.Cys86Ser,ENST00000367485,NM_001127709.2,NM_001127710.2;PRG4,missense_variant,p.Cys45Ser,ENST00000367482,;PRG4,missense_variant,p.Cys45Ser,ENST00000533951,;	A	ENST00000445192	Transcript	missense_variant	301/5044	256/4215	86/1404	C/S	Tgc/Agc		1		1	PRG4	HGNC	HGNC:9364	protein_coding	YES	CCDS1369.1	ENSP00000399679	Q92954		UPI0004620CBB	NM_005807.4	deleterious(0)		4/13		PROSITE_profiles:PS50958,hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1,PROSITE_patterns:PS00524,Pfam_domain:PF01033,SMART_domains:SM00201,Superfamily_domains:0049461,Prints_domain:PR00022																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	92	186301648	186301648	T	A	1	0	0	0	0	1	0	0	0	12615	1580	55	4		4	PRG4	1	186301648	Missense_Mutation	SNP	T	C3N-02149_TP	6267602	186301648	62654774	37	29969											
CRB1	0	.	GRCh38	chr1	197421230	197421230	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatggccagcatggattcAgctgcctatgtccatctggc	9	10	11	11	0	2	1	1	0	1	1	3	2	3	2	3	3	3	2	3	3	2	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1402A>T	p.Ser468Cys	p.S468C	ENST00000367400	6/12	458	390	68	539	539	0	strelka-varscan	CRB1,missense_variant,p.Ser399Cys,ENST00000535699,NM_001257965.1;CRB1,missense_variant,p.Ser468Cys,ENST00000367400,NM_201253.2;CRB1,missense_variant,p.Ser356Cys,ENST00000367399,NM_001193640.1;CRB1,missense_variant,p.Ser468Cys,ENST00000538660,NM_001257966.1;CRB1,5_prime_UTR_variant,,ENST00000367397,;CRB1,non_coding_transcript_exon_variant,,ENST00000476483,;CRB1,upstream_gene_variant,,ENST00000480086,;CRB1,missense_variant,p.Ser468Cys,ENST00000484075,;	T	ENST00000367400	Transcript	missense_variant	1537/4932	1402/4221	468/1406	S/C	Agc/Tgc		1		1	CRB1	HGNC	HGNC:2343	protein_coding	YES	CCDS1390.1	ENSP00000356370	P82279		UPI0000073345	NM_201253.2	deleterious(0)		6/12		Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_profiles:PS50026,hmmpanther:PTHR24049,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF49899,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	197421230	197421230	A	T	1	0	0	0	0	1	0	0	0	3648	188	7	4		4	CRB1	1	197421230	Missense_Mutation	SNP	A	C3N-02149_TP	11119582	197421230	51535192	38	29970											
LGR6	0	.	GRCh38	chr1	202309145	202309145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaccttgctctctcccagGccttctccaaggacagtttc	7	11	8	15	0	2	0	0	0	2	0	6	2	3	2	4	3	2	2	4	3	2	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1375G>T	p.Ala459Ser	p.A459S	ENST00000367278	15/18	229	197	32	230	229	1	strelka-varscan	LGR6,missense_variant,p.Ala459Ser,ENST00000367278,NM_001017403.1;LGR6,missense_variant,p.Ala407Ser,ENST00000255432,NM_021636.2;LGR6,missense_variant,p.Ala320Ser,ENST00000439764,NM_001017404.1;LGR6,downstream_gene_variant,,ENST00000423542,;LGR6,downstream_gene_variant,,ENST00000308543,;LGR6,3_prime_UTR_variant,,ENST00000487787,;	T	ENST00000367278	Transcript	missense_variant	1464/3567	1375/2904	459/967	A/S	Gcc/Tcc		1		1	LGR6	HGNC	HGNC:19719	protein_coding	YES	CCDS30971.1	ENSP00000356247	Q9HBX8		UPI0000161221	NM_001017403.1	tolerated(0.35)		15/18		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF12,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	202309145	202309145	G	T	1	0	0	0	0	1	0	0	0	8668	1203	42	2		2	LGR6	1	202309145	Missense_Mutation	SNP	G	C3N-02149_TP	4887915	202309145	46647277	39	29971											
NFASC	0	.	GRCh38	chr1	204979535	204979535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaccccagcctcccatccGagcgctaccgaaccagtgga	9	4	9	19	3	0	0	0	0	0	0	2	3	2	1	8	1	4	1	8	1	2	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.2152G>A	p.Glu718Lys	p.E718K	ENST00000339876	19/30	314	280	34	305	305	0	strelka-varscan	NFASC,missense_variant,p.Glu718Lys,ENST00000339876,NM_001005388.2;NFASC,missense_variant,p.Glu718Lys,ENST00000401399,;NFASC,missense_variant,p.Glu714Lys,ENST00000539706,NM_001160332.1;NFASC,missense_variant,p.Glu714Lys,ENST00000360049,NM_015090.3;NFASC,missense_variant,p.Glu697Lys,ENST00000404076,;NFASC,missense_variant,p.Glu714Lys,ENST00000404907,;NFASC,missense_variant,p.Glu705Lys,ENST00000430393,NM_001160331.1;NFASC,missense_variant,p.Glu688Lys,ENST00000367173,;NFASC,missense_variant,p.Glu714Lys,ENST00000513543,;NFASC,upstream_gene_variant,,ENST00000425360,;NFASC,downstream_gene_variant,,ENST00000403080,NM_001160333.1,NM_001005389.1;NFASC,non_coding_transcript_exon_variant,,ENST00000404977,;NFASC,non_coding_transcript_exon_variant,,ENST00000471392,;NFASC,upstream_gene_variant,,ENST00000468328,;NFASC,3_prime_UTR_variant,,ENST00000504476,;NFASC,non_coding_transcript_exon_variant,,ENST00000512826,;NFASC,downstream_gene_variant,,ENST00000514644,;	A	ENST00000339876	Transcript	missense_variant	2480/10333	2152/3723	718/1240	E/K	Gag/Aag		1		1	NFASC	HGNC	HGNC:29866	protein_coding	YES	CCDS53460.1	ENSP00000344786	O94856		UPI0000237208	NM_001005388.2	tolerated(0.11)		19/30		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF715,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	92	204979535	204979535	G	A	1	0	0	0	0	1	0	0	0	10396	1059	37	1		1	NFASC	1	204979535	Missense_Mutation	SNP	G	C3N-02149_TP	2670390	204979535	43976887	40	29972											
KLHDC8A	0	.	GRCh38	chr1	205343579	205343579	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccaggcgcttccactggAagtccttgacgttaggcacc	7	8	12	14	3	0	1	0	1	0	0	2	2	2	2	4	3	0	3	4	3	2	3	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.26T>A	p.Phe9Tyr	p.F9Y	ENST00000367156	5/9	94	88	6	93	93	0	strelka-varscan	KLHDC8A,missense_variant,p.Phe9Tyr,ENST00000367156,NM_001271863.1;KLHDC8A,missense_variant,p.Phe9Tyr,ENST00000539253,NM_001271864.1,NM_001271865.1;KLHDC8A,missense_variant,p.Phe9Tyr,ENST00000367155,NM_018203.2;KLHDC8A,missense_variant,p.Phe9Tyr,ENST00000491471,;KLHDC8A,missense_variant,p.Phe9Tyr,ENST00000606887,;KLHDC8A,missense_variant,p.Phe9Tyr,ENST00000607173,;KLHDC8A,5_prime_UTR_variant,,ENST00000607826,;KLHDC8A,intron_variant,,ENST00000460687,;KLHDC8A,upstream_gene_variant,,ENST00000606181,;KLHDC8A,downstream_gene_variant,,ENST00000606529,;KLHDC8A,downstream_gene_variant,,ENST00000607193,;KLHDC8A,downstream_gene_variant,,ENST00000606111,;	T	ENST00000367156	Transcript	missense_variant	843/3177	26/1053	9/350	F/Y	tTc/tAc		1		-1	KLHDC8A	HGNC	HGNC:25573	protein_coding	YES	CCDS30985.1	ENSP00000356124	Q8IYD2	A0A024R981	UPI00000728EF	NM_001271863.1	tolerated(0.23)		5/9		hmmpanther:PTHR24412:SF123,hmmpanther:PTHR24412,Gene3D:1zgkA00,Superfamily_domains:0052715																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	92	205343579	205343579	A	T	1	0	0	0	0	1	0	0	0	8226	246	9	4		4	KLHDC8A	1	205343579	Missense_Mutation	SNP	A	C3N-02149_TP	364044	205343579	43612843	41	29973											
CR2	0	.	GRCh38	chr1	207466684	207466684	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taactaaagacaaagtggatGgaacctgggataaacctgct	16	8	10	7	0	0	1	0	0	0	1	0	4	0	4	2	3	4	1	2	3	7	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.217G>T	p.Gly73Ter	p.G73*	ENST00000367057	2/20	407	323	84	524	522	2	strelka-varscan	CR2,stop_gained,p.Gly73Ter,ENST00000367057,NM_001006658.2;CR2,stop_gained,p.Gly73Ter,ENST00000367058,NM_001877.4;CR2,stop_gained,p.Gly73Ter,ENST00000367059,;CR2,non_coding_transcript_exon_variant,,ENST00000479186,;CR2,upstream_gene_variant,,ENST00000485707,;CR2,upstream_gene_variant,,ENST00000475194,;	T	ENST00000367057	Transcript	stop_gained	406/4240	217/3279	73/1092	G/*	Gga/Tga		1		1	CR2	HGNC	HGNC:2336	protein_coding	YES	CCDS31007.1	ENSP00000356024	P20023		UPI0000366600	NM_001006658.2			2/20		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF391,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	92	207466684	207466684	G	T	1	0	0	0	0	0	1	0	0	3640	1349	47	2		2	CR2	1	207466684	Nonsense_Mutation	SNP	G	C3N-02149_TP	2123105	207466684	41489738	42	29974											
USH2A	0	.	GRCh38	chr1	215786688	215786688	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgtgtaagagtacgtgtTtacactccctgtatgaatgg	10	13	10	8	1	0	2	0	1	0	1	1	2	1	2	2	1	2	4	2	1	5	5	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.10369A>T	p.Asn3457Tyr	p.N3457Y	ENST00000307340	52/72	408	335	73	423	423	0	strelka-varscan	USH2A,missense_variant,p.Asn3457Tyr,ENST00000307340,NM_206933.2;	A	ENST00000307340	Transcript	missense_variant	10756/18883	10369/15609	3457/5202	N/Y	Aac/Tac		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2	deleterious(0)		52/72		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	215786688	215786688	T	A	1	0	0	0	0	1	0	0	0	17570	1841	64	4		4	USH2A	1	215786688	Missense_Mutation	SNP	T	C3N-02149_TP	8320004	215786688	33169734	43	29975											
GPATCH2	0	.	GRCh38	chr1	217431359	217431359	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggctgggcattttcacctAcaaatcctgaaatgataaaa	14	12	7	8	0	1	2	1	2	0	0	2	2	2	2	2	2	1	2	2	2	5	5	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1373T>A	p.Val458Glu	p.V458E	ENST00000366935	10/10	245	196	49	244	244	0	strelka-varscan	GPATCH2,missense_variant,p.Val458Glu,ENST00000366935,NM_018040.3;	T	ENST00000366935	Transcript	missense_variant	1484/5851	1373/1587	458/528	V/E	gTa/gAa		1		-1	GPATCH2	HGNC	HGNC:25499	protein_coding	YES	CCDS1518.1	ENSP00000355902	Q9NW75		UPI000004A012	NM_018040.3	deleterious(0)		10/10		hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF4																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	92	217431359	217431359	A	T	1	0	0	0	0	1	0	0	0	6491	391	14	4		4	GPATCH2	1	217431359	Missense_Mutation	SNP	A	C3N-02149_TP	1644671	217431359	31525063	44	29976											
BROX	0	.	GRCh38	chr1	222725517	222725517	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagagtcacgactcatagAagcatacgttattcaatgtc	13	13	7	8	2	3	2	3	0	0	2	4	3	3	2	0	0	2	2	0	0	6	6	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.542A>C	p.Glu181Ala	p.E181A	ENST00000340934	7/13	226	204	22	225	225	0	strelka-varscan	BROX,missense_variant,p.Glu181Ala,ENST00000340934,NM_144695.3;BROX,missense_variant,p.Glu149Ala,ENST00000612948,NM_001288579.1;BROX,missense_variant,p.Glu149Ala,ENST00000539697,NM_001288580.1;BROX,missense_variant,p.Glu181Ala,ENST00000537020,NM_001288581.1;BROX,missense_variant,p.Glu181Ala,ENST00000426638,;BROX,non_coding_transcript_exon_variant,,ENST00000489191,;BROX,non_coding_transcript_exon_variant,,ENST00000473962,;	C	ENST00000340934	Transcript	missense_variant	948/4124	542/1236	181/411	E/A	gAa/gCa		1		1	BROX	HGNC	HGNC:26512	protein_coding	YES	CCDS1534.1	ENSP00000343742	Q5VW32		UPI000013E1D1	NM_144695.3	deleterious(0.03)		7/13		PROSITE_profiles:PS51180,hmmpanther:PTHR23032,hmmpanther:PTHR23032:SF1,Gene3D:2xs1A01,Pfam_domain:PF03097,SMART_domains:SM01041																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	222725517	222725517	A	C	1	0	0	0	0	1	0	0	0	1693	246	9	5		5	BROX	1	222725517	Missense_Mutation	SNP	A	C3N-02149_TP	5294158	222725517	26230905	45	29977											
CAPN8	0	.	GRCh38	chr1	223544777	223544777	+	Frame_Shift_Del	DEL	T	T	-																															aggatgtgtcctcacctgccTtcctgagggctgtcctcatc																								novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1907delA	p.Lys636ArgfsTer34	p.K636Rfs*34	ENST00000366872	18/21	256	211	45	298	298	0	sindel-varindel-pindel	CAPN8,frameshift_variant,p.Lys636ArgfsTer34,ENST00000366872,;CAPN8,frameshift_variant,p.Lys89ArgfsTer34,ENST00000430824,;CAPN8,intron_variant,,ENST00000442247,;CAPN8,non_coding_transcript_exon_variant,,ENST00000482401,;CAPN8,upstream_gene_variant,,ENST00000482183,;CAPN8,upstream_gene_variant,,ENST00000484873,;	-	ENST00000366872	Transcript	frameshift_variant	1995/2427	1907/2112	636/703	K/X	aAg/ag		1		-1	CAPN8	HGNC	HGNC:1485	protein_coding	YES	CCDS73038.1	ENSP00000355837	A6NHC0		UPI0000157E1A				18/21		Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF52,Superfamily_domains:SSF47473																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	92	223544777	223544777	T	-	1	0	1	0	1	0	0	0	0	2326	1623	56	0		0	CAPN8	1	223544777	Frame_Shift_Del	DEL	T	C3N-02149_TP	819260	223544777	25411645	46	29978											
ACBD3	0	.	GRCh38	chr1	226186468	226186468	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagccgccgcgcctcctCcgccgcgcccccagccgccg	2	3	10	26	8	0	0	0	0	0	0	3	0	3	0	11	0	2	0	11	0	0	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.208G>T	p.Glu70Ter	p.E70*	ENST00000366812	1/8	182	135	47	269	269	0	strelka-varscan	ACBD3,stop_gained,p.Glu70Ter,ENST00000366812,NM_022735.3;RP11-275I14.2,downstream_gene_variant,,ENST00000429867,;	A	ENST00000366812	Transcript	stop_gained	263/3573	208/1587	70/528	E/*	Gag/Tag		1		-1	ACBD3	HGNC	HGNC:15453	protein_coding	YES	CCDS1551.1	ENSP00000355777	Q9H3P7	A0A024R3P9	UPI000006F1E1	NM_022735.3			1/8		hmmpanther:PTHR22973,hmmpanther:PTHR22973:SF11,Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	92	226186468	226186468	C	A	1	0	0	0	0	0	1	0	0	166	864	30	2		2	ACBD3	1	226186468	Nonsense_Mutation	SNP	C	C3N-02149_TP	2641691	226186468	22769954	47	29979											
OBSCN	0	.	GRCh38	chr1	228371775	228371775	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccctatcagggacatgggGcaccctcagggctccaagca	9	5	12	15	0	2	0	2	0	0	0	3	1	3	1	4	4	1	3	4	4	2	1			C3N-02149_TP	C3N-02149_NB	G	G																c.23868G>C	p.=	p.G7956G	ENST00000570156	105/116	82	60	22	59	59	0	strelka-varscan	OBSCN,synonymous_variant,p.=,ENST00000570156,NM_001271223.2;OBSCN,synonymous_variant,p.=,ENST00000366707,;OBSCN,synonymous_variant,p.=,ENST00000422127,NM_001098623.2;OBSCN,synonymous_variant,p.=,ENST00000636875,;OBSCN,synonymous_variant,p.=,ENST00000636476,;	C	ENST00000570156	Transcript	synonymous_variant	23942/26925	23868/26772	7956/8923	G	ggG/ggC	COSM4794323,COSM4794324	1		1	OBSCN	HGNC	HGNC:15719	protein_coding	YES	CCDS59204.1	ENSP00000455507		H3BPX2	UPI00027FCDB5	NM_001271223.2			105/116													1,1						LOW	1	SNV	5		1,1	1										PASS		.	.												C	2	2	92	228371775	228371775	G	C	1	0	0	0	0	0	0	0	1	10889	1190	42	4		4	OBSCN	1	228371775	Silent	SNP	G	C3N-02149_TP	2185307	228371775	20584647	48	29980											
NID1	0	.	GRCh38	chr1	236032573	236032573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtaagagtggaggtcagtGttctcaaagacaatggggac	13	8	14	6	1	2	2	2	0	1	2	3	4	2	4	0	4	0	2	0	4	3	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1365C>A	p.Asn455Lys	p.N455K	ENST00000264187	6/20	433	313	120	505	505	0	strelka-varscan	NID1,missense_variant,p.Asn455Lys,ENST00000264187,NM_002508.2;NID1,missense_variant,p.Asn455Lys,ENST00000366595,;	T	ENST00000264187	Transcript	missense_variant	1448/5864	1365/3744	455/1247	N/K	aaC/aaA		1		-1	NID1	HGNC	HGNC:7821	protein_coding	YES	CCDS1608.1	ENSP00000264187	P14543		UPI000013D4D9	NM_002508.2	deleterious(0)		6/20		Gene3D:2.40.155.10,Pfam_domain:PF07474,PROSITE_profiles:PS50993,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF107,SMART_domains:SM00682,Superfamily_domains:SSF54511																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	236032573	236032573	G	T	1	0	0	0	0	1	0	0	0	10447	1368	48	2		2	NID1	1	236032573	Missense_Mutation	SNP	G	C3N-02149_TP	7660798	236032573	12923849	49	29981											
ACTN2	0	.	GRCh38	chr1	236717904	236717904	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaaggaaagccggcacccAgattgagaacatcgaggaag	15	4	12	10	2	0	2	0	1	0	2	1	6	0	4	3	3	2	1	3	3	4	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.173A>T	p.Gln58Leu	p.Q58L	ENST00000542672	2/21	643	591	52	675	673	2	strelka-varscan	ACTN2,missense_variant,p.Gln58Leu,ENST00000542672,NM_001278343.1;ACTN2,missense_variant,p.Gln58Leu,ENST00000366578,NM_001103.3;ACTN2,5_prime_UTR_variant,,ENST00000546208,NM_001278344.1;ACTN2,non_coding_transcript_exon_variant,,ENST00000492634,;	T	ENST00000542672	Transcript	missense_variant	393/4906	173/2685	58/894	Q/L	cAg/cTg		1		1	ACTN2	HGNC	HGNC:164	protein_coding	YES	CCDS60455.1	ENSP00000443495	P35609		UPI00002050CF	NM_001278343.1	deleterious(0.01)		2/21		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	236717904	236717904	A	T	1	0	0	0	0	1	0	0	0	249	188	7	4		4	ACTN2	1	236717904	Missense_Mutation	SNP	A	C3N-02149_TP	685331	236717904	12238518	50	29982											
RYR2	0	.	GRCh38	chr1	237709513	237709513	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcctaacccagaagcAgaggagctcttccgcatggt	12	6	12	11	1	1	2	0	0	1	2	2	4	2	4	3	3	4	3	3	3	3	2	rs752142789		C3N-02149_TP	C3N-02149_NB	A	A																c.10176A>T	p.=	p.A3392A	ENST00000366574	70/105	230	159	71	276	276	0	strelka-varscan	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	T	ENST00000366574	Transcript	synonymous_variant	10493/16562	10176/14904	3392/4967	A	gcA/gcT	rs752142789	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			70/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	237709513	237709513	A	T	1	0	0	0	0	0	0	0	1	14029	175	7	4		4	RYR2	1	237709513	Silent	SNP	A	C3N-02149_TP	991609	237709513	11246909	51	29983											
ZP4	0	.	GRCh38	chr1	237885886	237885886	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagctgcagctgacatggagCctgcagagaaacaagatttt	13	9	11	8	0	0	3	0	1	0	2	0	5	0	4	1	1	6	4	1	1	3	3	rs780199400		C3N-02149_TP	C3N-02149_NB	C	C																c.840G>C	p.Arg280Ser	p.R280S	ENST00000611898	7/13	153	142	11	164	164	0	strelka-varscan	ZP4,missense_variant,p.Arg280Ser,ENST00000611898,NM_021186.3;ZP4,missense_variant,p.Arg280Ser,ENST00000366570,;RP11-193H5.1,intron_variant,,ENST00000450451,;	G	ENST00000611898	Transcript	missense_variant,splice_region_variant	1127/2474	840/1623	280/540	R/S	agG/agC	rs780199400	1		-1	ZP4	HGNC	HGNC:15770	protein_coding	YES	CCDS1615.1	ENSP00000482304	Q12836		UPI000006F0E4	NM_021186.3	deleterious(0)		7/13		Pfam_domain:PF00100,PROSITE_profiles:PS51034,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,SMART_domains:SM00241																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	92	237885886	237885886	C	G	1	0	0	0	0	1	0	0	0	18810	753	26	4		4	ZP4	1	237885886	Missense_Mutation	SNP	C	C3N-02149_TP	176373	237885886	11070536	52	29984											
OR2B11	0	.	GRCh38	chr1	247451839	247451839	+	Silent	SNP	G	G	T																															acccgggatgccaggatgatGgcgacgttccccaacatggc																								novel		C3N-02149_TP	C3N-02149_NB	G	G																c.144C>A	p.=	p.A48A	ENST00000318749	1/1	430	333	97	434	433	1	strelka-varscan	OR2B11,synonymous_variant,p.=,ENST00000318749,NM_001004492.1;NLRP3,downstream_gene_variant,,ENST00000366497,NM_001127461.2;NLRP3,downstream_gene_variant,,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000391828,NM_001079821.2;NLRP3,downstream_gene_variant,,ENST00000348069,NM_183395.2;NLRP3,downstream_gene_variant,,ENST00000391827,NM_001127462.2;NLRP3,downstream_gene_variant,,ENST00000532083,;	T	ENST00000318749	Transcript	synonymous_variant	144/954	144/954	48/317	A	gcC/gcA		1		-1	OR2B11	HGNC	HGNC:31249	protein_coding	YES	CCDS31090.1	ENSP00000325682	Q5JQS5	A0A126GVY5	UPI0000418F50	NM_001004492.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF112,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW		SNV				1										PASS		.	.												T	2	4	92	247451839	247451839	G	T	1	0	0	0	0	0	0	0	1	11067	1335	47	2		2	OR2B11	1	247451839	Silent	SNP	G	C3N-02149_TP	9565953	247451839	1504583	53	29985	623	2									
OR2B11	0	.	GRCh38	chr1	247451840	247451840	+	Missense_Mutation	SNP	G	G	T																															cccgggatgccaggatgatgGcgacgttccccaacatggcc																										C3N-02149_TP	C3N-02149_NB	G	G																c.143C>A	p.Ala48Asp	p.A48D	ENST00000318749	1/1	431	331	100	439	439	0	strelka-varscan	OR2B11,missense_variant,p.Ala48Asp,ENST00000318749,NM_001004492.1;NLRP3,downstream_gene_variant,,ENST00000366497,NM_001127461.2;NLRP3,downstream_gene_variant,,ENST00000336119,NM_004895.4,NM_001243133.1;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000391828,NM_001079821.2;NLRP3,downstream_gene_variant,,ENST00000348069,NM_183395.2;NLRP3,downstream_gene_variant,,ENST00000391827,NM_001127462.2;NLRP3,downstream_gene_variant,,ENST00000532083,;	T	ENST00000318749	Transcript	missense_variant	143/954	143/954	48/317	A/D	gCc/gAc	COSM5276732	1		-1	OR2B11	HGNC	HGNC:31249	protein_coding	YES	CCDS31090.1	ENSP00000325682	Q5JQS5	A0A126GVY5	UPI0000418F50	NM_001004492.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF112,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237											1						MODERATE		SNV			1	1										PASS		.	.												T	3	4	92	247451840	247451840	G	T	1	0	0	0	0	1	0	0	0	11067	1203	42	2		2	OR2B11	1	247451840	Missense_Mutation	SNP	G	C3N-02149_TP	1	247451840	1504582	54	29986	623	2									
TSSC1	0	.	GRCh38	chr2	3194142	3194142	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcccgcaccagctgtccgtgGgcattctctatgcagtagat	7	11	10	13	2	1	1	0	0	1	1	4	1	3	1	3	1	2	5	3	1	2	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.678C>G	p.=	p.A226A	ENST00000382125	7/9	185	166	19	244	244	0	strelka-varscan-mutect	TSSC1,synonymous_variant,p.=,ENST00000398659,;TSSC1,synonymous_variant,p.=,ENST00000382125,NM_003310.2;TSSC1,synonymous_variant,p.=,ENST00000441271,;TSSC1,non_coding_transcript_exon_variant,,ENST00000478754,;TSSC1,non_coding_transcript_exon_variant,,ENST00000463662,;TSSC1,3_prime_UTR_variant,,ENST00000455162,;TSSC1,3_prime_UTR_variant,,ENST00000435721,;TSSC1,non_coding_transcript_exon_variant,,ENST00000496433,;TSSC1,non_coding_transcript_exon_variant,,ENST00000482570,;TSSC1,downstream_gene_variant,,ENST00000470625,;	C	ENST00000382125	Transcript	synonymous_variant	871/1766	678/1164	226/387	A	gcC/gcG		1		-1	TSSC1	HGNC	HGNC:12383	protein_coding	YES	CCDS1651.1	ENSP00000371559	Q53HC9		UPI000006DFE1	NM_003310.2			7/9		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR14205:SF15,hmmpanther:PTHR14205,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:0049172																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	92	3194142	3194142	G	C	1	0	0	0	0	0	0	0	1	17174	1219	43	4		4	TSSC1	2	3194142	Silent	SNP	G	C3N-02149_TP		3194142	238999387	55	29987											
DCDC2C	0	.	GRCh38	chr2	3752820	3752820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatttgcaagacaatcaCttttatgttgctgtgggact	11	14	10	6	0	1	1	1	0	0	1	1	3	1	3	0	2	2	3	0	2	4	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.603C>A	p.His201Gln	p.H201Q	ENST00000399143	5/11	267	240	27	375	374	1	strelka-varscan-mutect	DCDC2C,missense_variant,p.His201Gln,ENST00000399143,NM_001287444.1;DCDC2C,missense_variant,p.His164Gln,ENST00000423741,;DCDC2C,intron_variant,,ENST00000537457,;	A	ENST00000399143	Transcript	missense_variant	763/1480	603/1095	201/364	H/Q	caC/caA		1		1	DCDC2C	HGNC	HGNC:32696	protein_coding	YES	CCDS74481.1	ENSP00000382097	A8MYV0		UPI0002742D44	NM_001287444.1	tolerated(0.44)		5/11		PROSITE_profiles:PS50309,hmmpanther:PTHR23004:SF9,hmmpanther:PTHR23004,Gene3D:1mfwA00,Pfam_domain:PF03607,SMART_domains:SM00537,Superfamily_domains:SSF89837																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	92	3752820	3752820	C	A	1	0	0	0	0	1	0	0	0	4089	564	20	2		2	DCDC2C	2	3752820	Missense_Mutation	SNP	C	C3N-02149_TP	558678	3752820	238440709	56	29988											
LPIN1	0	.	GRCh38	chr2	11779646	11779646	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgccgcaggctgctaagGtgagagtctcttcaattctg	8	11	12	10	1	3	1	1	1	2	1	4	2	3	1	1	2	3	4	1	2	2	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1104+1G>T		p.X368_splice	ENST00000449576		421	399	22	508	507	1	strelka-varscan-mutect	LPIN1,splice_donor_variant,,ENST00000396097,;LPIN1,splice_donor_variant,,ENST00000425416,NM_001261427.1;LPIN1,splice_donor_variant,,ENST00000256720,NM_145693.2;LPIN1,splice_donor_variant,,ENST00000449576,NM_001261428.1;LPIN1,splice_donor_variant,,ENST00000396098,NM_001261429.1;LPIN1,splice_donor_variant,,ENST00000404113,;LPIN1,upstream_gene_variant,,ENST00000475286,;LPIN1,splice_donor_variant,,ENST00000396099,;LPIN1,upstream_gene_variant,,ENST00000460096,;	T	ENST00000449576	Transcript	splice_donor_variant	-/3077	1104/2928	368/975				1		1	LPIN1	HGNC	HGNC:13345	protein_coding	YES	CCDS58699.1	ENSP00000397908	Q14693		UPI0002064F62	NM_001261428.1				8/21																		HIGH	1	SNV	2			1										PASS		.	.												T	5	4	92	11779646	11779646	G	T	1	0	0	0	0	0	0	1	0	8818	1275	44	2		2	LPIN1	2	11779646	Splice_Site	SNP	G	C3N-02149_TP	8026826	11779646	230413883	57	29989											
APOB	0	.	GRCh38	chr2	21004644	21004644	+	Frame_Shift_Del	DEL	C	C	-																															cctttagtcttagaggctaaCgtaccatcttcgattttgtg																								rs72654417		C3N-02149_TP	C3N-02149_NB	C	C																c.11820delG	p.Leu3941Ter	p.L3941*	ENST00000233242	27/29	387	320	67	528	528	0	sindel-varindel-pindel	APOB,frameshift_variant,p.Leu3941Ter,ENST00000233242,NM_000384.2;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;	-	ENST00000233242	Transcript	frameshift_variant	11948/14121	11820/13692	3940/4563	T/X	acG/ac	rs72654417	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			27/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	92	21004644	21004644	C	-	1	0	1	0	1	0	0	0	0	907	523	19	0		0	APOB	2	21004644	Frame_Shift_Del	DEL	C	C3N-02149_TP	9224998	21004644	221188885	58	29990											
TDRD15	0	.	GRCh38	chr2	21140303	21140303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacattatcagagacattcCcatctttatttagtctttac	11	17	3	10	0	4	1	2	0	2	1	5	2	5	1	1	0	1	0	1	0	4	8	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2836C>T	p.Pro946Ser	p.P946S	ENST00000405799	4/4	198	167	31	236	236	0	strelka-varscan	TDRD15,missense_variant,p.Pro946Ser,ENST00000405799,;TDRD15,missense_variant,p.Pro946Ser,ENST00000622654,;	T	ENST00000405799	Transcript	missense_variant	3166/6135	2836/5805	946/1934	P/S	Cca/Tca		1		1	TDRD15	HGNC	HGNC:45037	protein_coding	YES	CCDS77385.1	ENSP00000384376	B5MCY1		UPI000173A3F5		tolerated(0.17)		4/4		hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	92	21140303	21140303	C	T	1	0	0	0	0	1	0	0	0	16141	623	22	3		3	TDRD15	2	21140303	Missense_Mutation	SNP	C	C3N-02149_TP	135659	21140303	221053226	59	29991											
OTOF	0	.	GRCh38	chr2	26482505	26482505	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggatctgcaccttcatgcGtttgcagagtggggggaaga	8	10	15	8	2	2	2	1	0	1	2	3	4	2	4	1	4	3	3	1	4	1	2	rs751973073		C3N-02149_TP	C3N-02149_NB	G	G																c.1480C>G	p.Arg494Gly	p.R494G	ENST00000272371	14/47	170	155	15	234	234	0	strelka-varscan-mutect	OTOF,missense_variant,p.Arg494Gly,ENST00000272371,NM_194248.2;OTOF,missense_variant,p.Arg494Gly,ENST00000403946,NM_001287489.1;OTOF,upstream_gene_variant,,ENST00000402415,NM_194322.2;OTOF,upstream_gene_variant,,ENST00000338581,NM_004802.3;OTOF,upstream_gene_variant,,ENST00000339598,NM_194323.2;	C	ENST00000272371	Transcript	missense_variant	1607/7156	1480/5994	494/1997	R/G	Cgc/Ggc	rs751973073,COSM4133765	1		-1	OTOF	HGNC	HGNC:8515	protein_coding	YES	CCDS1725.1	ENSP00000272371	Q9HC10		UPI000013D94D	NM_194248.2	deleterious(0)		14/47		PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs751973073	.												C	3	2	92	26482505	26482505	G	C	1	0	0	0	0	1	0	0	0	11369	1145	40	4		4	OTOF	2	26482505	Missense_Mutation	SNP	G	C3N-02149_TP	5342202	26482505	215711024	60	29992											
DPYSL5	0	.	GRCh38	chr2	26944783	26944783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccggcccgtcacccggcatgGgggcatgagggaccttcacg	6	5	15	15	4	2	1	2	1	0	0	2	2	2	2	4	5	0	2	4	5	0	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1568G>T	p.Gly523Val	p.G523V	ENST00000288699	12/13	242	217	25	266	265	1	strelka-varscan-mutect	DPYSL5,missense_variant,p.Gly523Val,ENST00000288699,NM_020134.3;DPYSL5,missense_variant,p.Gly523Val,ENST00000614712,NM_001253724.1;DPYSL5,missense_variant,p.Gly523Val,ENST00000401478,NM_001253723.1;DPYSL5,non_coding_transcript_exon_variant,,ENST00000484882,;	T	ENST00000288699	Transcript	missense_variant	1726/5209	1568/1695	523/564	G/V	gGg/gTg		1		1	DPYSL5	HGNC	HGNC:20637	protein_coding	YES	CCDS1730.1	ENSP00000288699	Q9BPU6		UPI00000411CF	NM_020134.3	tolerated(0.11)		12/13																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	26944783	26944783	G	T	1	0	0	0	0	1	0	0	0	4565	1232	43	2		2	DPYSL5	2	26944783	Missense_Mutation	SNP	G	C3N-02149_TP	462278	26944783	215248746	61	29993											
PRR30	0	.	GRCh38	chr2	27138046	27138046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttctggtgaaagaaagtaGgggaacttgggagagaggga	14	7	18	2	0	1	3	0	1	1	2	1	7	1	6	0	5	1	2	0	5	4	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.284C>A	p.Pro95His	p.P95H	ENST00000335524	3/3	383	334	49	483	482	1	strelka-varscan-mutect	PRR30,missense_variant,p.Pro95His,ENST00000335524,NM_178553.3;PRR30,intron_variant,,ENST00000432962,;PREB,upstream_gene_variant,,ENST00000260643,NM_013388.4;PREB,upstream_gene_variant,,ENST00000406567,;PREB,upstream_gene_variant,,ENST00000416802,;PREB,upstream_gene_variant,,ENST00000468045,;PREB,upstream_gene_variant,,ENST00000444452,;PREB,upstream_gene_variant,,ENST00000474802,;	T	ENST00000335524	Transcript	missense_variant	810/2008	284/1239	95/412	P/H	cCt/cAt		1		-1	PRR30	HGNC	HGNC:28677	protein_coding	YES	CCDS1739.1	ENSP00000335017	Q53SZ7		UPI00001995FD	NM_178553.3	deleterious(0)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22235:SF2,hmmpanther:PTHR22235,Pfam_domain:PF15728																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	27138046	27138046	G	T	1	0	0	0	0	1	0	0	0	12737	1000	35	2		2	PRR30	2	27138046	Missense_Mutation	SNP	G	C3N-02149_TP	193263	27138046	215055483	62	29994											
C2orf16	0	.	GRCh38	chr2	27580900	27580900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagctcaacagccaagaaGagcttactctttccaaccca	14	8	5	14	0	3	2	2	0	1	2	4	2	4	2	3	0	6	2	3	0	5	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.4328G>A	p.Arg1443Lys	p.R1443K	ENST00000408964	1/1	261	237	24	321	321	0	strelka-varscan-mutect	C2orf16,missense_variant,p.Arg1443Lys,ENST00000408964,NM_032266.3;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271289.1,NM_001271318.1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271287.1,NM_001271288.1;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1;ZNF512,upstream_gene_variant,,ENST00000379717,;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,;ZNF512,upstream_gene_variant,,ENST00000494548,;ZNF512,upstream_gene_variant,,ENST00000461705,;	A	ENST00000408964	Transcript	missense_variant	4379/6199	4328/5955	1443/1984	R/K	aGa/aAa		1		1	C2orf16	HGNC	HGNC:25275	protein_coding	YES	CCDS42666.1	ENSP00000386190	Q68DN1		UPI0000D61179	NM_032266.3	tolerated(0.25)		1/1		hmmpanther:PTHR33888																	MODERATE		SNV				1										PASS		.	.												A	3	1	92	27580900	27580900	G	A	1	0	0	0	0	1	0	0	0	2032	942	33	3		3	C2orf16	2	27580900	Missense_Mutation	SNP	G	C3N-02149_TP	442854	27580900	214612629	63	29995											
SULT6B1	0	.	GRCh38	chr2	37171456	37171456	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcggaaaaggaatgggccGacagcaccgtgtgtgtcctg	9	8	15	9	3	0	0	0	0	0	0	1	3	1	2	3	3	2	1	3	3	3	1	rs137864268		C3N-02149_TP	C3N-02149_NB	G	G																c.645C>A	p.=	p.V215V	ENST00000407963	7/8	120	98	22	166	166	0	strelka-varscan-mutect	SULT6B1,synonymous_variant,p.=,ENST00000535679,;SULT6B1,synonymous_variant,p.=,ENST00000407963,NM_001032377.1;	T	ENST00000407963	Transcript	synonymous_variant	749/902	645/798	215/265	V	gtC/gtA	rs137864268,COSM3709630,COSM3709631	1		-1	SULT6B1	HGNC	HGNC:33433	protein_coding	YES	CCDS33182.1	ENSP00000384950		A0A0C4DG03	UPI0000041280	NM_001032377.1			7/8		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF55,Superfamily_domains:SSF52540											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs137864268	.												T	2	4	92	37171456	37171456	G	T	1	0	0	0	0	0	0	0	1	15770	1045	37	1		1	SULT6B1	2	37171456	Silent	SNP	G	C3N-02149_TP	9590556	37171456	205022073	64	29996											
SRBD1	0	.	GRCh38	chr2	45393108	45393108	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttccaacctcatacagtgtCcctccaatggatgacaaaaa	14	10	5	12	0	1	1	1	1	0	0	4	2	4	2	4	1	2	0	4	1	5	2	rs752837606		C3N-02149_TP	C3N-02149_NB	C	C																c.2535G>T	p.=	p.G845G	ENST00000263736	20/21	70	54	16	103	103	0	strelka-varscan-mutect	SRBD1,synonymous_variant,p.=,ENST00000263736,NM_018079.4;SRBD1,non_coding_transcript_exon_variant,,ENST00000490133,;	A	ENST00000263736	Transcript	synonymous_variant	2598/3681	2535/2988	845/995	G	ggG/ggT	rs752837606	1		-1	SRBD1	HGNC	HGNC:25521	protein_coding	YES	CCDS1823.1	ENSP00000263736	Q8N5C6		UPI000004CC06	NM_018079.4			20/21		Gene3D:3bzcA04,hmmpanther:PTHR10724,hmmpanther:PTHR10724:SF1,Superfamily_domains:SSF47781																	LOW	1	SNV	2			1										PASS		rs752837606	.												A	2	1	92	45393108	45393108	C	A	1	0	0	0	0	0	0	0	1	15491	842	30	2		2	SRBD1	2	45393108	Silent	SNP	C	C3N-02149_TP	8221652	45393108	196800421	65	29997											
SERTAD2	0	.	GRCh38	chr2	64636302	64636302	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacactgtcagtcgcagcCgtggccgcctctgtggaggt	5	10	13	13	3	3	0	2	0	1	0	4	1	3	1	3	3	1	1	3	3	0	1	rs753265798		C3N-02149_TP	C3N-02149_NB	C	C																c.570G>T	p.=	p.T190T	ENST00000313349	2/2	339	281	58	390	387	3	strelka-varscan-mutect	SERTAD2,synonymous_variant,p.=,ENST00000313349,NM_014755.2;SERTAD2,downstream_gene_variant,,ENST00000476805,;	A	ENST00000313349	Transcript	synonymous_variant	868/5549	570/945	190/314	T	acG/acT	rs753265798	1		-1	SERTAD2	HGNC	HGNC:30784	protein_coding	YES	CCDS33210.1	ENSP00000326933	Q14140		UPI000004EC6D	NM_014755.2			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR16277:SF10,hmmpanther:PTHR16277																	LOW	1	SNV	1			1										PASS		rs753265798	.												A	2	1	92	64636302	64636302	C	A	1	0	0	0	0	0	0	0	1	14397	639	23	1		1	SERTAD2	2	64636302	Silent	SNP	C	C3N-02149_TP	19243194	64636302	177557227	66	29998											
ETAA1	0	.	GRCh38	chr2	67399598	67399598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagatagtgatgagatttCacatattgttaatcgtattg	13	15	8	5	1	1	3	1	2	0	2	2	4	1	3	0	0	0	2	0	0	4	7	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.401C>T	p.Ser134Leu	p.S134L	ENST00000272342	3/6	208	188	20	301	301	0	strelka-varscan-mutect	ETAA1,missense_variant,p.Ser134Leu,ENST00000272342,NM_019002.3;ETAA1,upstream_gene_variant,,ENST00000462772,;	T	ENST00000272342	Transcript	missense_variant	531/3418	401/2781	134/926	S/L	tCa/tTa		1		1	ETAA1	HGNC	HGNC:24648	protein_coding	YES	CCDS1882.1	ENSP00000272342	Q9NY74		UPI00001414BC	NM_019002.3	deleterious(0)		3/6		Pfam_domain:PF15350,hmmpanther:PTHR16434																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	67399598	67399598	C	T	1	0	0	0	0	1	0	0	0	5129	838	29	3		3	ETAA1	2	67399598	Missense_Mutation	SNP	C	C3N-02149_TP	2763296	67399598	174793931	67	29999											
RAB11FIP5	0	.	GRCh38	chr2	73089195	73089195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagggagaccttggcttGtccttcatggacaggtcaaa	10	10	12	9	0	2	2	2	1	0	1	3	4	3	3	2	4	0	1	2	4	2	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.552C>T	p.=	p.D184D	ENST00000258098	2/5	584	480	104	700	700	0	strelka-varscan-mutect	RAB11FIP5,synonymous_variant,p.=,ENST00000486777,;RAB11FIP5,synonymous_variant,p.=,ENST00000258098,NM_015470.2;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000493523,;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000475951,;RAB11FIP5,upstream_gene_variant,,ENST00000482554,;RAB11FIP5,upstream_gene_variant,,ENST00000479196,;	A	ENST00000258098	Transcript	synonymous_variant	793/4342	552/1962	184/653	D	gaC/gaT		1		-1	RAB11FIP5	HGNC	HGNC:24845	protein_coding	YES	CCDS1923.1	ENSP00000258098	Q9BXF6		UPI000007079C	NM_015470.2			2/5		hmmpanther:PTHR15746:SF14,hmmpanther:PTHR15746,Superfamily_domains:SSF49562																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	73089195	73089195	G	A	1	0	0	0	0	0	0	0	1	13055	1368	48	3		3	RAB11FIP5	2	73089195	Silent	SNP	G	C3N-02149_TP	5689597	73089195	169104334	68	30000											
ALMS1	0	.	GRCh38	chr2	73600722	73600722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaaaacacactcgagatGttgggataactttcccaact	15	9	6	11	1	0	1	0	0	0	1	2	3	1	2	2	1	3	1	2	1	5	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.11713G>T	p.Val3905Phe	p.V3905F	ENST00000613296	18/23	141	120	21	158	158	0	varscan-mutect	ALMS1,missense_variant,p.Val3905Phe,ENST00000613296,NM_015120.4;ALMS1,missense_variant,p.Val3863Phe,ENST00000484298,;ALMS1,upstream_gene_variant,,ENST00000464408,;ALMS1,upstream_gene_variant,,ENST00000490821,;ALMS1,non_coding_transcript_exon_variant,,ENST00000620466,;	T	ENST00000613296	Transcript	missense_variant	11824/12925	11713/12507	3905/4168	V/F	Gtt/Ttt		1		1	ALMS1	HGNC	HGNC:428	protein_coding	YES	CCDS42697.1	ENSP00000482968		A0A087WZY3	UPI00046209B2	NM_015120.4	deleterious(0.03)		18/23		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	73600722	73600722	G	T	1	0	0	0	0	1	0	0	0	635	1377	48	2		2	ALMS1	2	73600722	Missense_Mutation	SNP	G	C3N-02149_TP	511527	73600722	168592807	69	30001											
LRRTM4	0	.	GRCh38	chr2	77518810	77518810	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatattatatgtttccacTgcatcactaaccttttcacc	11	15	3	12	0	2	1	2	0	0	1	3	1	3	1	3	0	2	2	3	0	4	7	rs529696389		C3N-02149_TP	C3N-02149_NB	T	T																c.1059A>C	p.=	p.A353A	ENST00000409093	3/4	219	179	40	271	270	1	strelka-varscan-mutect	LRRTM4,synonymous_variant,p.=,ENST00000409088,NM_024993.4;LRRTM4,synonymous_variant,p.=,ENST00000409911,;LRRTM4,synonymous_variant,p.=,ENST00000409282,NM_001282928.1;LRRTM4,synonymous_variant,p.=,ENST00000409093,NM_001282924.1;LRRTM4,synonymous_variant,p.=,ENST00000409884,NM_001134745.1;LRRTM4,downstream_gene_variant,,ENST00000456154,;	G	ENST00000409093	Transcript	synonymous_variant	1396/2247	1059/1773	353/590	A	gcA/gcC	rs529696389	1		-1	LRRTM4	HGNC	HGNC:19411	protein_coding	YES	CCDS46346.1	ENSP00000386357	Q86VH4		UPI0000047808	NM_001282924.1			3/4		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF1																	LOW	1	SNV	2			1										PASS		rs529696389	.												G	2	3	92	77518810	77518810	T	G	1	0	0	0	0	0	0	0	1	8948	1567	55	5		5	LRRTM4	2	77518810	Silent	SNP	T	C3N-02149_TP	3918088	77518810	164674719	70	30002											
REG3G	0	.	GRCh38	chr2	79028222	79028222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccctaggatttctgaagtgGaaagattataactgtgatgc	12	13	10	6	0	1	3	0	2	1	1	2	5	2	5	1	2	2	0	1	2	5	4	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.474G>T	p.Trp158Cys	p.W158C	ENST00000272324	6/6	136	119	17	165	165	0	strelka-varscan-mutect	REG3G,missense_variant,p.Trp158Cys,ENST00000272324,NM_001008387.2;REG3G,missense_variant,p.Trp158Cys,ENST00000393897,NM_198448.3;REG3G,missense_variant,p.Trp112Cys,ENST00000409471,NM_001270040.1;REG3G,downstream_gene_variant,,ENST00000490944,;REG3G,downstream_gene_variant,,ENST00000498312,;	T	ENST00000272324	Transcript	missense_variant	658/938	474/528	158/175	W/C	tgG/tgT		1		1	REG3G	HGNC	HGNC:29595	protein_coding	YES	CCDS1962.1	ENSP00000272324	Q6UW15		UPI0000048F1E	NM_001008387.2	deleterious(0)		6/6		PROSITE_profiles:PS50041,hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF60,PROSITE_patterns:PS00615,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	79028222	79028222	G	T	1	0	0	0	0	1	0	0	0	13383	1183	41	2		2	REG3G	2	79028222	Missense_Mutation	SNP	G	C3N-02149_TP	1509412	79028222	163165307	71	30003											
LRRTM1	0	.	GRCh38	chr2	80303352	80303352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttccgcagcccgtggaaGaggtcgggcgcgagcgcctg	6	5	17	13	6	0	1	0	0	0	1	2	3	1	2	3	3	3	2	3	3	1	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.468C>T	p.=	p.L156L	ENST00000295057	2/2	331	312	19	361	361	0	strelka-varscan-mutect	LRRTM1,synonymous_variant,p.=,ENST00000295057,;LRRTM1,synonymous_variant,p.=,ENST00000409148,NM_178839.4;LRRTM1,synonymous_variant,p.=,ENST00000416268,;LRRTM1,synonymous_variant,p.=,ENST00000452811,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.2;CTNNA2,intron_variant,,ENST00000629316,NM_001164883.1;CTNNA2,upstream_gene_variant,,ENST00000541047,NM_001282600.1;LRRTM1,downstream_gene_variant,,ENST00000415098,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,synonymous_variant,p.=,ENST00000433224,;LRRTM1,synonymous_variant,p.=,ENST00000417012,;	A	ENST00000295057	Transcript	synonymous_variant	1125/2599	468/1569	156/522	L	ctC/ctT		1		-1	LRRTM1	HGNC	HGNC:19408	protein_coding	YES	CCDS1966.1	ENSP00000295057	Q86UE6		UPI000013E1FE				2/2		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,SMART_domains:SM00369,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	80303352	80303352	G	A	1	0	0	0	0	0	0	0	1	8945	929	33	3		3	LRRTM1	2	80303352	Silent	SNP	G	C3N-02149_TP	1275130	80303352	161890177	72	30004											
DNAH6	0	.	GRCh38	chr2	84653472	84653472	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttttatgaaactatgctAgtaaggcatggtgttatgtt	11	16	10	4	0	0	1	0	1	0	0	0	1	0	1	0	2	2	6	0	2	6	7	rs573582854		C3N-02149_TP	C3N-02149_NB	A	A																c.5232A>T	p.=	p.L1744L	ENST00000389394	34/77	259	220	39	358	357	1	strelka-varscan-mutect	DNAH6,synonymous_variant,p.=,ENST00000389394,NM_001370.1;DNAH6,synonymous_variant,p.=,ENST00000237449,;DNAH6,upstream_gene_variant,,ENST00000602588,;	T	ENST00000389394	Transcript	synonymous_variant	5369/12795	5232/12477	1744/4158	L	ctA/ctT	rs573582854	1		1	DNAH6	HGNC	HGNC:2951	protein_coding	YES	CCDS46348.1	ENSP00000374045	Q9C0G6		UPI000163AC9D	NM_001370.1			34/77		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		rs573582854	.												T	2	4	92	84653472	84653472	A	T	1	0	0	0	0	0	0	0	1	4420	407	15	4		4	DNAH6	2	84653472	Silent	SNP	A	C3N-02149_TP	4350120	84653472	157540057	73	30005											
TEKT4	0	.	GRCh38	chr2	94871678	94871678	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggcctggccaccgccagCttccgcacctccaagtacct	6	7	8	20	3	0	0	0	0	0	0	3	0	3	0	9	2	2	3	9	2	2	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.99C>T	p.=	p.S33S	ENST00000295201	1/6	275	237	38	296	296	0	strelka-varscan-mutect	TEKT4,synonymous_variant,p.=,ENST00000295201,NM_144705.3,NM_001286559.1;AC097374.2,non_coding_transcript_exon_variant,,ENST00000568768,;AC097374.2,intron_variant,,ENST00000582835,;TEKT4,non_coding_transcript_exon_variant,,ENST00000468063,;	T	ENST00000295201	Transcript	synonymous_variant	236/1505	99/1308	33/435	S	agC/agT		1		1	TEKT4	HGNC	HGNC:31012	protein_coding	YES	CCDS2005.1	ENSP00000295201	Q8WW24		UPI00000730A8	NM_144705.3,NM_001286559.1			1/6		hmmpanther:PTHR19960,hmmpanther:PTHR19960:SF26																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	94871678	94871678	C	T	1	0	0	0	0	0	0	0	1	16167	796	28	3		3	TEKT4	2	94871678	Silent	SNP	C	C3N-02149_TP	10218206	94871678	147321851	74	30006											
PROM2	0	.	GRCh38	chr2	95287451	95287451	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctcccagtacgtggcctGggtgagagaggaggtgagtg	7	9	17	8	1	1	3	0	2	1	1	2	5	1	4	2	4	1	1	2	4	1	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.2231G>T	p.Trp744Leu	p.W744L	ENST00000317620	20/24	216	192	24	270	270	0	strelka-varscan-mutect	PROM2,missense_variant,p.Trp744Leu,ENST00000317620,NM_001165978.1;PROM2,missense_variant,p.Trp744Leu,ENST00000317668,NM_144707.2;PROM2,missense_variant,p.Trp744Leu,ENST00000403131,NM_001165977.1;PROM2,upstream_gene_variant,,ENST00000462029,;PROM2,downstream_gene_variant,,ENST00000497110,;PROM2,upstream_gene_variant,,ENST00000495540,;PROM2,3_prime_UTR_variant,,ENST00000431567,NM_001321070.1;PROM2,non_coding_transcript_exon_variant,,ENST00000487138,;	T	ENST00000317620	Transcript	missense_variant	2364/4728	2231/2505	744/834	W/L	tGg/tTg		1		1	PROM2	HGNC	HGNC:20685	protein_coding	YES	CCDS2012.1	ENSP00000318270	Q8N271		UPI0000071157	NM_001165978.1	deleterious(0)		20/24		hmmpanther:PTHR22730:SF6,hmmpanther:PTHR22730,Pfam_domain:PF05478																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	95287451	95287451	G	T	1	0	0	0	0	1	0	0	0	12688	1357	47	2		2	PROM2	2	95287451	Missense_Mutation	SNP	G	C3N-02149_TP	415773	95287451	146906078	75	30007											
CREG2	0	.	GRCh38	chr2	101387182	101387182	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggggggcggcctggcccgGgcggcgcccgcccggggccg	0	1	23	17	8	0	0	0	0	0	0	0	0	0	0	5	9	0	0	5	9	0	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.276C>A	p.=	p.A92A	ENST00000324768	1/4	32	27	5	59	59	0	strelka-varscan-mutect	CREG2,synonymous_variant,p.=,ENST00000324768,NM_153836.3;CREG2,non_coding_transcript_exon_variant,,ENST00000486966,;CREG2,upstream_gene_variant,,ENST00000495455,;	T	ENST00000324768	Transcript	synonymous_variant	414/6383	276/873	92/290	A	gcC/gcA		1		-1	CREG2	HGNC	HGNC:14272	protein_coding	YES	CCDS2052.1	ENSP00000315203	Q8IUH2		UPI0000074776	NM_153836.3			1/4		Low_complexity_(Seg):seg,hmmpanther:PTHR13343:SF15,hmmpanther:PTHR13343,PIRSF_domain:PIRSF036911																	LOW	1	SNV	1			1										PASS		rs1415355856	.												T	2	4	92	101387182	101387182	G	T	1	0	0	0	0	0	0	0	1	3666	1219	43	2		2	CREG2	2	101387182	Silent	SNP	G	C3N-02149_TP	6099731	101387182	140806347	76	30008											
SLC9A2	0	.	GRCh38	chr2	102665151	102665175	+	Frame_Shift_Del	DEL	ATTGATGTGTTTGCAGGAATCGCCA	ATTGATGTGTTTGCAGGAATCGCCA	-																															agatgaaaaccattgagaccAttgatgtgtttgcaggaatc																								novel		C3N-02149_TP	C3N-02149_NB	ATTGATGTGTTTGCAGGAATCGCCA	ATTGATGTGTTTGCAGGAATCGCCA																c.806_830delTTGATGTGTTTGCAGGAATCGCCAA	p.Ile269ThrfsTer11	p.I269Tfs*11	ENST00000233969	3/12	297	268	29	394	394	0	sindel-varindel-pindel	SLC9A2,frameshift_variant,p.Ile269ThrfsTer11,ENST00000233969,NM_003048.4;	-	ENST00000233969	Transcript	frameshift_variant	947-971/5410	805-829/2439	269-277/812	IDVFAGIAN/X	ATTGATGTGTTTGCAGGAATCGCCAac/ac		1		1	SLC9A2	HGNC	HGNC:11072	protein_coding	YES	CCDS2062.1	ENSP00000233969	Q9UBY0		UPI000012FD21	NM_003048.4			3/12		hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF89,Pfam_domain:PF00999,TIGRFAM_domain:TIGR00840																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	92	102665151	102665151	ATTGATGTGTTTGCAGGAATCGCCA	-	1	0	1	0	1	0	0	0	0	14994	217	8	0		0	SLC9A2	2	102665151	Frame_Shift_Del	DEL	ATTGATGTGTTTGCAGGAATCGCCA	C3N-02149_TP	1277969	102665151	139528378	77	30009											
UXS1	0	.	GRCh38	chr2	106145227	106145227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccacgtcgtggttaatCaactcgaagttctcatgtcc	9	12	7	13	3	2	0	2	0	1	0	7	1	4	0	3	1	1	2	3	1	3	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.435G>T	p.Leu145Phe	p.L145F	ENST00000283148	6/15	169	144	25	231	231	0	strelka-varscan-mutect	UXS1,missense_variant,p.Leu145Phe,ENST00000283148,NM_001253875.1;UXS1,missense_variant,p.Leu140Phe,ENST00000409501,NM_025076.4;UXS1,missense_variant,p.Leu83Phe,ENST00000457835,;UXS1,5_prime_UTR_variant,,ENST00000444193,;UXS1,intron_variant,,ENST00000416298,;UXS1,intron_variant,,ENST00000441952,;UXS1,non_coding_transcript_exon_variant,,ENST00000479621,;UXS1,non_coding_transcript_exon_variant,,ENST00000479774,;UXS1,downstream_gene_variant,,ENST00000483426,;	A	ENST00000283148	Transcript	missense_variant	533/2099	435/1278	145/425	L/F	ttG/ttT		1		-1	UXS1	HGNC	HGNC:17729	protein_coding	YES	CCDS58721.1	ENSP00000283148	Q8NBZ7		UPI000003CA36	NM_001253875.1	tolerated(0.05)		6/15		hmmpanther:PTHR10366:SF399,hmmpanther:PTHR10366,Pfam_domain:PF16363,Gene3D:3.40.50.720,Superfamily_domains:SSF51735																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	92	106145227	106145227	C	A	1	0	0	0	0	1	0	0	0	17654	825	29	2		2	UXS1	2	106145227	Missense_Mutation	SNP	C	C3N-02149_TP	3480076	106145227	136048302	78	30010											
ST6GAL2	0	.	GRCh38	chr2	106806710	106806710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgactggacttggtgcagGgcagtgcaccgcctggaagc	9	7	15	10	1	0	1	0	1	0	0	0	3	0	3	2	4	3	3	2	4	2	1			C3N-02149_TP	C3N-02149_NB	G	G																c.1558C>A	p.Pro520Thr	p.P520T	ENST00000409382	6/6	145	118	27	172	172	0	varscan-mutect	ST6GAL2,missense_variant,p.Pro520Thr,ENST00000409382,NM_001142351.1;ST6GAL2,missense_variant,p.Pro520Thr,ENST00000361686,NM_001322362.1,NM_032528.2;ST6GAL2,missense_variant,p.Pro86Thr,ENST00000361803,;	T	ENST00000409382	Transcript	missense_variant	2169/7275	1558/1590	520/529	P/T	Cct/Act	COSM1526976	1		-1	ST6GAL2	HGNC	HGNC:10861	protein_coding	YES	CCDS2073.1	ENSP00000386942	Q96JF0		UPI000007477B	NM_001142351.1			6/6													1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	92	106806710	106806710	G	T	1	0	0	0	0	1	0	0	0	15600	1232	43	2		2	ST6GAL2	2	106806710	Missense_Mutation	SNP	G	C3N-02149_TP	661483	106806710	135386819	79	30011											
PSD4	0	.	GRCh38	chr2	113182551	113182552	+	Frame_Shift_Ins	INS	-	-	C																															gagccccacccaggagagtgINScccaagggaaacgtgcagcc																								novel		C3N-02149_TP	C3N-02149_NB	-	-																c.98dupC	p.Arg34LysfsTer7	p.R34Kfs*7	ENST00000245796	2/17	238	209	29	325	325	0	sindel-varindel	PSD4,frameshift_variant,p.Arg34LysfsTer7,ENST00000441564,;PSD4,frameshift_variant,p.Arg34LysfsTer7,ENST00000245796,NM_012455.2;PSD4,non_coding_transcript_exon_variant,,ENST00000465917,;PSD4,intron_variant,,ENST00000485525,;PSD4,non_coding_transcript_exon_variant,,ENST00000418251,;PSD4,upstream_gene_variant,,ENST00000409656,;	C	ENST00000245796	Transcript	frameshift_variant	290-291/5188	95-96/3171	32/1056	C/CX	tgc/tgCc		1		1	PSD4	HGNC	HGNC:19096	protein_coding	YES	CCDS33276.1	ENSP00000245796	Q8NDX1		UPI00004A0748	NM_012455.2			2/17																			HIGH	1	insertion	1	3		1										PASS		.	.												C	7	5	92	113182551	113182551	-	C	1	0	1	1	0	0	0	0	0	12800	1319	46	0		0	PSD4	2	113182551	Frame_Shift_Ins	INS	-	C3N-02149_TP	6375841	113182551	129010978	80	30012	624	2									
PSD4	0	.	GRCh38	chr2	113182555	113182555	+	Silent	SNP	A	A	T																															ccccacccaggagagtgcccAagggaaacgtgcagccatga																								rs750340724		C3N-02149_TP	C3N-02149_NB	A	A																c.99A>T	p.=	p.P33P	ENST00000245796	2/17	281	246	35	346	346	0	strelka-varscan-mutect	PSD4,synonymous_variant,p.=,ENST00000441564,;PSD4,synonymous_variant,p.=,ENST00000245796,NM_012455.2;PSD4,non_coding_transcript_exon_variant,,ENST00000465917,;PSD4,intron_variant,,ENST00000485525,;PSD4,non_coding_transcript_exon_variant,,ENST00000418251,;PSD4,upstream_gene_variant,,ENST00000409656,;	T	ENST00000245796	Transcript	synonymous_variant	294/5188	99/3171	33/1056	P	ccA/ccT	rs750340724	1		1	PSD4	HGNC	HGNC:19096	protein_coding	YES	CCDS33276.1	ENSP00000245796	Q8NDX1		UPI00004A0748	NM_012455.2			2/17																			LOW	1	SNV	1			1										PASS		rs750340724	.												T	2	4	92	113182555	113182555	A	T	1	0	0	0	0	0	0	0	1	12800	117	5	4		4	PSD4	2	113182555	Silent	SNP	A	C3N-02149_TP	4	113182555	129010974	81	30013	624	2									
CLASP1	0	.	GRCh38	chr2	121367791	121367791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacttcactacccccccggCcctcagtggcaggggaggca	7	6	11	17	1	2	0	2	0	0	0	2	1	2	1	4	5	2	2	4	5	2	3	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.3683G>T	p.Gly1228Val	p.G1228V	ENST00000263710	35/40	326	271	55	338	338	0	strelka-varscan-mutect	CLASP1,missense_variant,p.Gly1228Val,ENST00000263710,NM_015282.2;CLASP1,missense_variant,p.Gly1161Val,ENST00000409078,NM_001142274.1;CLASP1,missense_variant,p.Gly1169Val,ENST00000397587,;CLASP1,missense_variant,p.Gly1167Val,ENST00000541377,NM_001207051.1;CLASP1,missense_variant,p.Gly1168Val,ENST00000455322,NM_001142273.1;CLASP1,missense_variant,p.Gly965Val,ENST00000452274,;CLASP1,non_coding_transcript_exon_variant,,ENST00000472776,;	A	ENST00000263710	Transcript	missense_variant	4073/8092	3683/4617	1228/1538	G/V	gGc/gTc		1		-1	CLASP1	HGNC	HGNC:17088	protein_coding	YES		ENSP00000263710	Q7Z460		UPI00001A8BFF	NM_015282.2	tolerated(0.55)		35/40		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	92	121367791	121367791	C	A	1	0	0	0	0	1	0	0	0	3217	739	26	2		2	CLASP1	2	121367791	Missense_Mutation	SNP	C	C3N-02149_TP	8185236	121367791	120825738	82	30014											
CNTNAP5	0	.	GRCh38	chr2	124647874	124647874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggggcagcatggaacagCtggaggccgtgatcgacggc	9	4	18	10	4	0	1	0	1	0	0	1	4	0	3	1	6	3	3	1	6	1	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1990C>A	p.Leu664Met	p.L664M	ENST00000431078	13/24	174	156	18	180	179	1	strelka-varscan-mutect	CNTNAP5,missense_variant,p.Leu664Met,ENST00000431078,NM_130773.3;	A	ENST00000431078	Transcript	missense_variant	2354/5284	1990/3921	664/1306	L/M	Ctg/Atg		1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3	deleterious(0.01)		13/24		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF665																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	124647874	124647874	C	A	1	0	0	0	0	1	0	0	0	3432	796	28	2		2	CNTNAP5	2	124647874	Missense_Mutation	SNP	C	C3N-02149_TP	3280083	124647874	117545655	83	30015											
MYO7B	0	.	GRCh38	chr2	127628466	127628466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccatcgctgagctggtgGccctgttcctggagggcctg	3	10	16	12	1	0	1	0	1	0	0	2	2	1	2	4	5	1	3	4	5	0	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.4477G>T	p.Ala1493Ser	p.A1493S	ENST00000428314	33/47	317	265	52	320	320	0	strelka-varscan-mutect	MYO7B,missense_variant,p.Ala1493Ser,ENST00000428314,NM_001080527.1;MYO7B,missense_variant,p.Ala1493Ser,ENST00000409816,;MYO7B,missense_variant,p.Ala346Ser,ENST00000409090,;MYO7B,downstream_gene_variant,,ENST00000437387,;RP11-286H15.1,upstream_gene_variant,,ENST00000609697,;MYO7B,non_coding_transcript_exon_variant,,ENST00000496841,;MYO7B,non_coding_transcript_exon_variant,,ENST00000491278,;	T	ENST00000428314	Transcript	missense_variant	4530/6715	4477/6351	1493/2116	A/S	Gcc/Tcc		1		1	MYO7B	HGNC	HGNC:7607	protein_coding	YES	CCDS46405.1	ENSP00000415090	Q6PIF6		UPI00006C04F0	NM_001080527.1	tolerated(0.48)		33/47		PROSITE_profiles:PS50057																	MODERATE	1	SNV	5			1										PASS		rs1428392162	.												T	3	4	92	127628466	127628466	G	T	1	0	0	0	0	1	0	0	0	10084	1203	42	2		2	MYO7B	2	127628466	Missense_Mutation	SNP	G	C3N-02149_TP	2980592	127628466	114565063	84	30016											
POTEI	0	.	GRCh38	chr2	130463684	130463684	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgttgtagaaggtgtggTgccagatcttctccatgtca	7	13	12	9	1	3	2	1	0	2	2	5	2	3	2	2	2	1	3	2	2	2	3	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.2360A>T	p.His787Leu	p.H787L	ENST00000451531	15/15	443	376	67	524	523	1	strelka-varscan-mutect	POTEI,missense_variant,p.His787Leu,ENST00000451531,NM_001277406.1;POTEI,downstream_gene_variant,,ENST00000631234,;POTEI,downstream_gene_variant,,ENST00000615053,;	A	ENST00000451531	Transcript	missense_variant	2791/7020	2360/3228	787/1075	H/L	cAc/cTc		1		-1	POTEI	HGNC	HGNC:37093	protein_coding	YES	CCDS59431.1	ENSP00000392718	P0CG38		UPI00006C04CB	NM_001277406.1	deleterious_low_confidence(0.01)		15/15		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF50,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		rs1409024436	.												A	3	1	92	130463684	130463684	T	A	1	0	0	0	0	1	0	0	0	12382	1696	59	4		4	POTEI	2	130463684	Missense_Mutation	SNP	T	C3N-02149_TP	2835218	130463684	111729845	85	30017											
NCKAP5	0	.	GRCh38	chr2	132784593	132784593	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttttggaatgtttttctCagtgtcctcttcagaccttt	6	20	6	9	0	4	1	2	0	3	1	6	2	5	2	2	1	0	1	2	1	1	6	rs76227896		C3N-02149_TP	C3N-02149_NB	C	C																c.2218G>T	p.Glu740Ter	p.E740*	ENST00000409261	14/20	66	56	10	78	78	0	strelka-varscan-mutect	NCKAP5,stop_gained,p.Glu740Ter,ENST00000409261,NM_207363.2;NCKAP5,stop_gained,p.Glu740Ter,ENST00000317721,;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,intron_variant,,ENST00000409213,NM_207481.3;NCKAP5,upstream_gene_variant,,ENST00000473859,;	A	ENST00000409261	Transcript	stop_gained	2592/7594	2218/5730	740/1909	E/*	Gag/Tag	rs76227896	1		-1	NCKAP5	HGNC	HGNC:29847	protein_coding	YES	CCDS46418.1	ENSP00000387128	O14513		UPI0000E07A3F	NM_207363.2			14/20		hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF0																	HIGH	1	SNV	5			1										PASS		rs76227896	.												A	4	1	92	132784593	132784593	C	A	1	0	0	0	0	0	1	0	0	10241	835	29	2		2	NCKAP5	2	132784593	Nonsense_Mutation	SNP	C	C3N-02149_TP	2320909	132784593	109408936	86	30018											
LRP1B	0	.	GRCh38	chr2	141005395	141005395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaagcacacacccggcCtcctgggatagccaagcaaa	13	3	10	15	1	0	0	0	0	0	0	1	1	1	1	4	3	3	3	4	3	4	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2443G>T	p.Gly815Cys	p.G815C	ENST00000389484	15/91	256	218	38	300	300	0	strelka-varscan-mutect	LRP1B,missense_variant,p.Gly815Cys,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;	A	ENST00000389484	Transcript	missense_variant	3415/16535	2443/13800	815/4599	G/C	Ggc/Tgc		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2	deleterious(0)		15/91		Pfam_domain:PF14670,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	141005395	141005395	C	A	1	0	0	0	0	1	0	0	0	8850	681	24	2		2	LRP1B	2	141005395	Missense_Mutation	SNP	C	C3N-02149_TP	8220802	141005395	101188134	87	30019											
SCN3A	0	.	GRCh38	chr2	165131388	165131388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcaatgatcttgagaacCatttctgctgtgaaaatccc	12	12	8	9	0	2	3	0	3	2	1	3	4	3	3	2	1	2	2	2	1	4	2			C3N-02149_TP	C3N-02149_NB	C	C																c.2421G>T	p.Met807Ile	p.M807I	ENST00000283254	16/28	323	292	31	443	443	0	strelka-varscan-mutect	SCN3A,missense_variant,p.Met807Ile,ENST00000360093,;SCN3A,missense_variant,p.Met807Ile,ENST00000283254,NM_006922.3,NM_001081676.1;SCN3A,missense_variant,p.Met758Ile,ENST00000409101,NM_001081677.1;SCN3A,missense_variant,p.Met758Ile,ENST00000440431,;AC013463.2,intron_variant,,ENST00000629817,;AC013463.2,intron_variant,,ENST00000625505,;AC013463.2,downstream_gene_variant,,ENST00000628085,;SCN3A,upstream_gene_variant,,ENST00000484898,;	A	ENST00000283254	Transcript	missense_variant	2889/9091	2421/6003	807/2000	M/I	atG/atT	COSM4086152,COSM4086153	1		-1	SCN3A	HGNC	HGNC:10590	protein_coding	YES	CCDS33312.1	ENSP00000283254	Q9NY46		UPI000002A665	NM_006922.3,NM_001081676.1	deleterious(0)		16/28		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF219,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	92	165131388	165131388	C	A	1	0	0	0	0	1	0	0	0	14187	594	21	2		2	SCN3A	2	165131388	Missense_Mutation	SNP	C	C3N-02149_TP	24125993	165131388	77062141	88	30020											
CSRNP3	0	.	GRCh38	chr2	165657932	165657932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtgcgccagtacactcttgGcgagtttgcaagggagcagg	8	8	15	10	3	1	0	0	0	1	0	1	2	1	1	1	3	4	4	1	3	2	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.320G>T	p.Gly107Val	p.G107V	ENST00000314499	5/7	374	353	21	399	397	2	strelka-varscan-mutect	CSRNP3,missense_variant,p.Gly107Val,ENST00000314499,NM_001172173.1;CSRNP3,missense_variant,p.Gly107Val,ENST00000342316,NM_024969.3;CSRNP3,missense_variant,p.Gly139Val,ENST00000409420,;CSRNP3,missense_variant,p.Gly107Val,ENST00000421875,;CSRNP3,missense_variant,p.Gly107Val,ENST00000409664,;	T	ENST00000314499	Transcript	missense_variant	696/11788	320/1758	107/585	G/V	gGc/gTc		1		1	CSRNP3	HGNC	HGNC:30729	protein_coding	YES	CCDS2225.1	ENSP00000318258	Q8WYN3		UPI0000136882	NM_001172173.1	deleterious(0.02)		5/7		hmmpanther:PTHR13580,hmmpanther:PTHR13580:SF13,Pfam_domain:PF16019																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	92	165657932	165657932	G	T	1	0	0	0	0	1	0	0	0	3766	1203	42	2		2	CSRNP3	2	165657932	Missense_Mutation	SNP	G	C3N-02149_TP	526544	165657932	76535597	89	30021											
TTC21B	0	.	GRCh38	chr2	165883800	165883800	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcaatcacctactctattAtgacgcaggcaccgttttaa	11	13	5	12	2	3	1	2	1	1	0	3	1	3	1	2	1	1	3	2	1	5	6	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.3678T>C	p.=	p.H1226H	ENST00000243344	26/29	354	311	43	486	486	0	strelka-varscan-mutect	TTC21B,synonymous_variant,p.=,ENST00000243344,NM_024753.4;TTC21B,non_coding_transcript_exon_variant,,ENST00000497425,;TTC21B,synonymous_variant,p.=,ENST00000392695,;	G	ENST00000243344	Transcript	synonymous_variant	3816/5482	3678/3951	1226/1316	H	caT/caC		1		-1	TTC21B	HGNC	HGNC:25660	protein_coding	YES	CCDS33315.1	ENSP00000243344	Q7Z4L5		UPI000020900A	NM_024753.4			26/29		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF1,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	92	165883800	165883800	A	G	1	0	0	0	0	0	0	0	1	17196	446	16	5		5	TTC21B	2	165883800	Silent	SNP	A	C3N-02149_TP	225868	165883800	76309729	90	30022											
SCN1A	0	.	GRCh38	chr2	166052880	166052880	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaaatcgtcttcaatgcTcggagaactctgaatgttct	11	13	8	9	2	4	3	1	2	3	1	6	4	4	3	0	1	2	2	0	1	4	2	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.666A>T	p.=	p.R222R	ENST00000303395	7/28	424	385	39	608	608	0	strelka-varscan-mutect	SCN1A,synonymous_variant,p.=,ENST00000635776,;SCN1A,synonymous_variant,p.=,ENST00000637988,;SCN1A,synonymous_variant,p.=,ENST00000303395,NM_001202435.1,NM_001165963.1;SCN1A,synonymous_variant,p.=,ENST00000635750,;SCN1A,synonymous_variant,p.=,ENST00000423058,;SCN1A,synonymous_variant,p.=,ENST00000375405,NM_006920.4;SCN1A,synonymous_variant,p.=,ENST00000409050,NM_001165964.1;AC010127.3,intron_variant,,ENST00000629609,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000628933,;AC010127.3,intron_variant,,ENST00000627027,;AC010127.3,intron_variant,,ENST00000630226,;AC010127.3,intron_variant,,ENST00000595268,;SCN1A,synonymous_variant,p.=,ENST00000636194,;SCN1A,3_prime_UTR_variant,,ENST00000636759,;SCN1A,non_coding_transcript_exon_variant,,ENST00000637968,;	A	ENST00000303395	Transcript	synonymous_variant	1084/8533	666/6030	222/2009	R	cgA/cgT		1		-1	SCN1A	HGNC	HGNC:10585	protein_coding	YES	CCDS54413.1	ENSP00000303540	P35498		UPI000003C71D	NM_001202435.1,NM_001165963.1			7/28		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF220,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix																	LOW	1	SNV	5			1										PASS		rs1478277926	.												A	2	1	92	166052880	166052880	T	A	1	0	0	0	0	0	0	0	1	14183	1538	54	4		4	SCN1A	2	166052880	Silent	SNP	T	C3N-02149_TP	169080	166052880	76140649	91	30023											
XIRP2	0	.	GRCh38	chr2	167247175	167247175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaaacatcactaaggtCtttgaaagaagcacaaagaa	18	7	8	8	0	2	3	1	1	1	2	2	4	2	4	1	2	2	1	1	2	6	2			C3N-02149_TP	C3N-02149_NB	C	C																c.5783C>A	p.Ser1928Tyr	p.S1928Y	ENST00000409195	9/11	318	279	39	354	353	1	strelka-varscan-mutect	XIRP2,missense_variant,p.Ser1928Tyr,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Ser1706Tyr,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Ser1753Tyr,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	A	ENST00000409195	Transcript	missense_variant	5872/12675	5783/10650	1928/3549	S/Y	tCt/tAt	COSM363892	1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious(0.02)		9/11		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1											1						MODERATE	1	SNV	5		1	1										PASS		rs1026215891	.												A	3	1	92	167247175	167247175	C	A	1	0	0	0	0	1	0	0	0	17989	913	32	2		2	XIRP2	2	167247175	Missense_Mutation	SNP	C	C3N-02149_TP	1194295	167247175	74946354	92	30024											
FASTKD1	0	.	GRCh38	chr2	169555188	169555188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaatgcagaaaagttaattCttgagttatcttcaacaact	16	13	6	6	0	3	2	1	1	2	1	3	3	3	2	0	0	3	3	0	0	7	5	rs12618227		C3N-02149_TP	C3N-02149_NB	C	C																c.1150G>A	p.Glu384Lys	p.E384K	ENST00000453153	7/15	162	150	12	323	323	0	strelka-varscan-mutect	FASTKD1,missense_variant,p.Glu384Lys,ENST00000453153,NM_024622.4;FASTKD1,missense_variant,p.Glu384Lys,ENST00000453929,NM_001281476.1;	T	ENST00000453153	Transcript	missense_variant	1497/2967	1150/2544	384/847	E/K	Gaa/Aaa	rs12618227,COSM207982	1		-1	FASTKD1	HGNC	HGNC:26150	protein_coding	YES	CCDS33318.1	ENSP00000400513	Q53R41		UPI000050BC4D	NM_024622.4	tolerated(0.06)		7/15		hmmpanther:PTHR21228:SF29,hmmpanther:PTHR21228											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs12618227	.												T	3	4	92	169555188	169555188	C	T	1	0	0	0	0	1	0	0	0	5545	922	32	3		3	FASTKD1	2	169555188	Missense_Mutation	SNP	C	C3N-02149_TP	2308013	169555188	72638341	93	30025											
WIPF1	0	.	GRCh38	chr2	174581416	174581416	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctgctctgtcttattCaaggtaggcttctctgtatt	6	16	8	11	0	4	0	1	0	3	0	5	0	4	0	2	2	2	4	2	2	4	6	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.75G>T	p.Leu25Phe	p.L25F	ENST00000392547	3/8	259	239	20	293	292	1	strelka-varscan-mutect	WIPF1,missense_variant,p.Leu25Phe,ENST00000392547,NM_003387.4;WIPF1,missense_variant,p.Leu25Phe,ENST00000272746,;WIPF1,missense_variant,p.Leu25Phe,ENST00000409891,;WIPF1,missense_variant,p.Leu25Phe,ENST00000392546,;WIPF1,missense_variant,p.Leu25Phe,ENST00000359761,NM_001077269.1;WIPF1,missense_variant,p.Leu25Phe,ENST00000409415,;WIPF1,missense_variant,p.Leu25Phe,ENST00000410117,;WIPF1,missense_variant,p.Leu25Phe,ENST00000455428,;WIPF1,missense_variant,p.Leu25Phe,ENST00000436221,;AC018890.6,intron_variant,,ENST00000442996,;AC018890.6,intron_variant,,ENST00000412835,;AC010894.5,intron_variant,,ENST00000454203,;WIPF1,non_coding_transcript_exon_variant,,ENST00000480400,;	A	ENST00000392547	Transcript	missense_variant	175/4587	75/1512	25/503	L/F	ttG/ttT		1		-1	WIPF1	HGNC	HGNC:12736	protein_coding	YES	CCDS2260.1	ENSP00000376330	O43516	A0A140VJZ9	UPI000013D4BD	NM_003387.4	deleterious(0)		3/8		hmmpanther:PTHR23202,hmmpanther:PTHR23202:SF32																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	174581416	174581416	C	A	1	0	0	0	0	1	0	0	0	17923	825	29	2		2	WIPF1	2	174581416	Missense_Mutation	SNP	C	C3N-02149_TP	5026228	174581416	67612113	94	30026											
TTN	0	.	GRCh38	chr2	178725976	178725976	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgttcccgaaagttcAcattcaagactgacttcagc	10	11	10	10	1	3	2	3	1	0	1	4	3	4	2	1	2	1	2	1	2	2	4	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.20346T>A	p.Cys6782Ter	p.C6782*	ENST00000589042	70/363	107	99	8	119	119	0	strelka-varscan-mutect	TTN,stop_gained,p.Cys6782Ter,ENST00000589042,NM_001267550.2;TTN,stop_gained,p.Cys6465Ter,ENST00000591111,;TTN,stop_gained,p.Cys6465Ter,ENST00000615779,NM_001256850.1;TTN,stop_gained,p.Cys5538Ter,ENST00000342992,NM_133378.4;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;RP11-171I2.1,non_coding_transcript_exon_variant,,ENST00000590024,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625480,;	T	ENST00000589042	Transcript	stop_gained	20571/109224	20346/107976	6782/35991	C/*	tgT/tgA		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			70/363		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	SNV	5			1										PASS		rs1471576272	.												T	4	4	92	178725976	178725976	A	T	1	0	0	0	0	0	1	0	0	17245	157	6	4		4	TTN	2	178725976	Nonsense_Mutation	SNP	A	C3N-02149_TP	4144560	178725976	63467553	95	30027											
ITGA4	0	.	GRCh38	chr2	181511748	181511748	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgttctgctgatttacAggtttctgcaaagattgggt	10	16	10	5	0	2	2	0	1	2	1	2	2	2	2	0	2	3	4	0	2	3	6	rs748148308		C3N-02149_TP	C3N-02149_NB	A	A																c.1895A>T	p.Gln632Leu	p.Q632L	ENST00000397033	17/28	266	234	32	373	373	0	strelka-varscan-mutect	ITGA4,missense_variant,p.Gln632Leu,ENST00000397033,NM_000885.4;ITGA4,downstream_gene_variant,,ENST00000233573,;ITGA4,non_coding_transcript_exon_variant,,ENST00000476824,;ITGA4,non_coding_transcript_exon_variant,,ENST00000490435,;	T	ENST00000397033	Transcript	missense_variant	2325/4189	1895/3099	632/1032	Q/L	cAg/cTg	rs748148308	1		1	ITGA4	HGNC	HGNC:6140	protein_coding	YES	CCDS42788.1	ENSP00000380227	P13612		UPI000052D444	NM_000885.4	deleterious(0.04)		17/28		hmmpanther:PTHR23220:SF78,hmmpanther:PTHR23220,Pfam_domain:PF08441,Gene3D:2.60.40.1510,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		rs748148308	.												T	3	4	92	181511748	181511748	A	T	1	0	0	0	0	1	0	0	0	7785	188	7	4		4	ITGA4	2	181511748	Missense_Mutation	SNP	A	C3N-02149_TP	2785772	181511748	60681781	96	30028											
CERKL	0	.	GRCh38	chr2	181656901	181656901	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgccgcctccgtctgctgcgGggacgttaacagcgccggag	5	6	15	15	7	1	0	0	0	1	0	2	2	2	2	4	3	4	2	4	3	1	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.106C>G	p.Pro36Ala	p.P36A	ENST00000339098	1/14	73	68	5	100	100	0	varscan-mutect	CERKL,missense_variant,p.Pro36Ala,ENST00000410087,NM_201548.4;CERKL,missense_variant,p.Pro36Ala,ENST00000409440,NM_001160277.1;CERKL,missense_variant,p.Pro36Ala,ENST00000339098,NM_001030311.2;CERKL,missense_variant,p.Pro36Ala,ENST00000374970,NM_001030313.2;CERKL,missense_variant,p.Pro36Ala,ENST00000374969,NM_001030312.2;CERKL,intron_variant,,ENST00000479558,;CERKL,intron_variant,,ENST00000497337,;CERKL,intron_variant,,ENST00000476070,;CERKL,missense_variant,p.Pro36Ala,ENST00000374967,;CERKL,missense_variant,p.Pro36Ala,ENST00000452174,;CERKL,missense_variant,p.Pro36Ala,ENST00000421817,;CERKL,non_coding_transcript_exon_variant,,ENST00000494398,;	C	ENST00000339098	Transcript	missense_variant	106/1677	106/1677	36/558	P/A	Ccg/Gcg		1		-1	CERKL	HGNC	HGNC:21699	protein_coding	YES	CCDS42789.1	ENSP00000341159	Q49MI3		UPI000057259A	NM_001030311.2	tolerated_low_confidence(0.52)		1/14		hmmpanther:PTHR12358:SF26,hmmpanther:PTHR12358																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	181656901	181656901	G	C	1	0	0	0	0	1	0	0	0	2994	1232	43	4		4	CERKL	2	181656901	Missense_Mutation	SNP	G	C3N-02149_TP	145153	181656901	60536628	97	30029											
ZNF804A	0	.	GRCh38	chr2	184936298	184936298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagataaaagaagtctctaGtgaaaaagatgcattattat	19	11	8	3	0	1	4	0	1	1	3	2	5	1	4	0	0	1	1	0	0	8	4			C3N-02149_TP	C3N-02149_NB	G	G																c.902G>T	p.Ser301Ile	p.S301I	ENST00000302277	4/4	164	148	16	218	218	0	strelka-varscan-mutect	ZNF804A,missense_variant,p.Ser301Ile,ENST00000302277,NM_194250.1;ZNF804A,missense_variant,p.Ser216Ile,ENST00000613975,;	T	ENST00000302277	Transcript	missense_variant	1496/4690	902/3630	301/1209	S/I	aGt/aTt	COSM5614986	1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1	deleterious(0.04)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	92	184936298	184936298	G	T	1	0	0	0	0	1	0	0	0	18755	1029	36	2		2	ZNF804A	2	184936298	Missense_Mutation	SNP	G	C3N-02149_TP	3279397	184936298	57257231	98	30030											
FSIP2	0	.	GRCh38	chr2	185793022	185793022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagatcacagtacattgagCaaagcattatcagccaaaga	18	7	7	9	0	2	3	2	1	0	2	2	3	2	3	1	0	4	3	1	0	5	3	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.6153C>A	p.Ser2051Arg	p.S2051R	ENST00000343098	16/23	223	187	36	327	326	1	strelka-varscan-mutect	FSIP2,missense_variant,p.Ser2051Arg,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Ser1962Arg,ENST00000424728,;FSIP2-AS1,intron_variant,,ENST00000436557,;FSIP2-AS1,intron_variant,,ENST00000429929,;FSIP2,upstream_gene_variant,,ENST00000415915,;	A	ENST00000343098	Transcript	missense_variant	6153/21054	6153/20991	2051/6996	S/R	agC/agA		1		1	FSIP2	HGNC	HGNC:21675	protein_coding	YES	CCDS54426.1	ENSP00000344403		J3QTJ6	UPI0001D420A1	NM_173651.2	deleterious(0.05)		16/23		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF6																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	92	185793022	185793022	C	A	1	0	0	0	0	1	0	0	0	5949	709	25	2		2	FSIP2	2	185793022	Missense_Mutation	SNP	C	C3N-02149_TP	856724	185793022	56400507	99	30031											
NABP1	0	.	GRCh38	chr2	191683803	191683803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgaggacagcagaacaaagGggtaattgtgtagtatactt	14	10	12	5	1	0	1	0	0	0	1	1	3	0	2	0	3	3	4	0	3	6	6			C3N-02149_TP	C3N-02149_NB	G	G																c.377G>T	p.Gly126Val	p.G126V	ENST00000425611	4/6	182	166	16	307	306	1	strelka-varscan-mutect	NABP1,missense_variant,p.Gly46Val,ENST00000410026,NM_001254736.1;NABP1,missense_variant,p.Gly126Val,ENST00000425611,NM_001031716.2;NABP1,missense_variant,p.Gly96Val,ENST00000435931,;NABP1,missense_variant,p.Gly46Val,ENST00000409510,;uc_338,downstream_gene_variant,,ENST00000617424,;NABP1,splice_region_variant,,ENST00000307849,;NABP1,splice_region_variant,,ENST00000451500,;NABP1,splice_region_variant,,ENST00000307834,;NABP1,splice_region_variant,,ENST00000462824,;NABP1,downstream_gene_variant,,ENST00000462712,;NABP1,downstream_gene_variant,,ENST00000491331,;	T	ENST00000425611	Transcript	missense_variant,splice_region_variant	460/1878	377/615	126/204	G/V	gGg/gTg	COSM313436	1		1	NABP1	HGNC	HGNC:26232	protein_coding	YES	CCDS33352.1	ENSP00000403683	Q96AH0		UPI000006F339	NM_001031716.2	tolerated(0.35)		4/6		hmmpanther:PTHR13356,hmmpanther:PTHR13356:SF1											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	92	191683803	191683803	G	T	1	0	0	0	0	1	0	0	0	10137	1246	43	2		2	NABP1	2	191683803	Missense_Mutation	SNP	G	C3N-02149_TP	5890781	191683803	50509726	100	30032											
CTLA4	0	.	GRCh38	chr2	203870703	203870703	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtgacagtgcttcggcAggctgacagccaggtgactg	7	7	16	11	2	0	3	0	3	0	0	1	3	0	3	2	4	2	3	2	4	0	1	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.227A>T	p.Gln76Leu	p.Q76L	ENST00000302823	2/4	398	354	44	531	531	0	strelka-varscan-mutect	CTLA4,missense_variant,p.Gln76Leu,ENST00000302823,NM_005214.4;CTLA4,missense_variant,p.Gln39Leu,ENST00000427473,;CTLA4,missense_variant,p.Gln76Leu,ENST00000295854,NM_001037631.2;CTLA4,intron_variant,,ENST00000472206,;CTLA4,intron_variant,,ENST00000487393,;	T	ENST00000302823	Transcript	missense_variant	384/1977	227/672	76/223	Q/L	cAg/cTg		1		1	CTLA4	HGNC	HGNC:2505	protein_coding	YES	CCDS2362.1	ENSP00000303939	P16410		UPI0000031FDF	NM_005214.4	tolerated(0.06)		2/4		Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR11494,hmmpanther:PTHR11494:SF8,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	203870703	203870703	A	T	1	0	0	0	0	1	0	0	0	3820	188	7	4		4	CTLA4	2	203870703	Missense_Mutation	SNP	A	C3N-02149_TP	12186900	203870703	38322826	101	30033											
ZDBF2	0	.	GRCh38	chr2	206308290	206308290	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttcttcagccagtggcTggccaacctgaagaagtagt	10	10	12	9	0	2	2	1	1	1	1	2	3	2	2	3	2	2	3	3	2	4	3	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.3762T>A	p.=	p.A1254A	ENST00000374423	5/5	231	208	23	401	401	0	strelka-varscan-mutect	ZDBF2,synonymous_variant,p.=,ENST00000374423,NM_020923.2;ZDBF2,synonymous_variant,p.=,ENST00000611847,NM_001285549.1;	A	ENST00000374423	Transcript	synonymous_variant	4148/10286	3762/7065	1254/2354	A	gcT/gcA		1		1	ZDBF2	HGNC	HGNC:29313	protein_coding	YES	CCDS46501.1	ENSP00000363545	Q9HCK1	N0DVB2	UPI000022BDE3	NM_020923.2			5/5		hmmpanther:PTHR21639,hmmpanther:PTHR21639:SF5																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	206308290	206308290	T	A	1	0	0	0	0	0	0	0	1	18174	1567	55	4		4	ZDBF2	2	206308290	Silent	SNP	T	C3N-02149_TP	2437587	206308290	35885239	102	30034											
ERBB4	0	.	GRCh38	chr2	211561925	211561925	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagctatctggacacaccagTtaagcagcagttgtgatcca	12	10	9	10	0	1	1	0	1	1	0	2	2	2	2	2	1	3	5	2	1	3	4	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.2465A>T	p.Asn822Ile	p.N822I	ENST00000342788	20/28	407	354	53	607	607	0	strelka-varscan-mutect	ERBB4,missense_variant,p.Asn822Ile,ENST00000342788,NM_005235.2;ERBB4,missense_variant,p.Asn822Ile,ENST00000436443,NM_001042599.1;ERBB4,missense_variant,p.Asn796Ile,ENST00000402597,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;	A	ENST00000342788	Transcript	missense_variant	2776/12136	2465/3927	822/1308	N/I	aAc/aTc		1		-1	ERBB4	HGNC	HGNC:3432	protein_coding	YES	CCDS2394.1	ENSP00000342235	Q15303		UPI00000499DF	NM_005235.2	deleterious(0)		20/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF90,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000619,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	211561925	211561925	T	A	1	0	0	0	0	1	0	0	0	5057	1725	60	4		4	ERBB4	2	211561925	Missense_Mutation	SNP	T	C3N-02149_TP	5253635	211561925	30631604	103	30035											
PRKAG3	0	.	GRCh38	chr2	218826969	218826969	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagacacacgccggtccAcaaagatgtccagtgcagtc	11	6	11	13	2	0	2	0	0	0	2	3	2	2	2	3	1	2	2	3	1	1	0	rs745901255		C3N-02149_TP	C3N-02149_NB	A	A																c.1127T>A	p.Val376Glu	p.V376E	ENST00000439262	10/14	340	305	35	468	468	0	strelka-varscan-mutect	PRKAG3,missense_variant,p.Val376Glu,ENST00000439262,NM_017431.2;PRKAG3,missense_variant,p.Val376Glu,ENST00000529249,;PRKAG3,downstream_gene_variant,,ENST00000430489,;MIR9500,downstream_gene_variant,,ENST00000635985,;PRKAG3,missense_variant,p.Val376Glu,ENST00000233944,;PRKAG3,3_prime_UTR_variant,,ENST00000470307,;PRKAG3,non_coding_transcript_exon_variant,,ENST00000490971,;	T	ENST00000439262	Transcript	missense_variant	1148/2301	1127/1470	376/489	V/E	gTg/gAg	rs745901255	1		-1	PRKAG3	HGNC	HGNC:9387	protein_coding	YES	CCDS2424.1	ENSP00000397133	Q9UGI9	A0A024R426	UPI0000043D98	NM_017431.2	deleterious(0)		10/14		PROSITE_profiles:PS51371,hmmpanther:PTHR13780:SF31,hmmpanther:PTHR13780,Gene3D:3.10.580.10,Pfam_domain:PF00571,SMART_domains:SM00116,Superfamily_domains:SSF54631																	MODERATE	1	SNV	1			1										PASS		rs745901255	.												T	3	4	92	218826969	218826969	A	T	1	0	0	0	0	1	0	0	0	12635	159	6	4		4	PRKAG3	2	218826969	Missense_Mutation	SNP	A	C3N-02149_TP	7265044	218826969	23366560	104	30036											
CFAP65	0	.	GRCh38	chr2	219024112	219024112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatgaggatgatctggtggGccccgggtgccacaaggccc	8	6	16	11	1	1	3	0	2	1	1	1	4	1	4	4	5	1	0	4	5	1	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.2498C>A	p.Ala833Asp	p.A833D	ENST00000341552	15/35	297	272	25	437	437	0	strelka-varscan-mutect	CFAP65,missense_variant,p.Ala833Asp,ENST00000341552,NM_194302.3;CFAP65,missense_variant,p.Ala833Asp,ENST00000453220,;CFAP65,downstream_gene_variant,,ENST00000441968,;CFAP65,downstream_gene_variant,,ENST00000409865,NM_001278295.1;CFAP65,downstream_gene_variant,,ENST00000410037,NM_001278296.1;CFAP65,upstream_gene_variant,,ENST00000413871,;CFAP65,downstream_gene_variant,,ENST00000462848,;CFAP65,downstream_gene_variant,,ENST00000463683,;CFAP65,downstream_gene_variant,,ENST00000474601,;	T	ENST00000341552	Transcript	missense_variant	2582/5953	2498/5778	833/1925	A/D	gCc/gAc		1		-1	CFAP65	HGNC	HGNC:25325	protein_coding	YES	CCDS2430.2	ENSP00000340776	Q6ZU64		UPI0000609097	NM_194302.3	tolerated(0.06)		15/35																			MODERATE	1	SNV	5			1										PASS		rs750848836	.												T	3	4	92	219024112	219024112	G	T	1	0	0	0	0	1	0	0	0	3029	1203	42	2		2	CFAP65	2	219024112	Missense_Mutation	SNP	G	C3N-02149_TP	197143	219024112	23169417	105	30037											
FAM134A	0	.	GRCh38	chr2	219182337	219182337	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcctcactgctctgcccgGcaccctgtcacctccacttt	4	11	7	19	1	3	0	2	0	1	0	4	0	4	0	5	2	2	2	5	2	0	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1340G>C	p.Gly447Ala	p.G447A	ENST00000430297	9/9	275	250	25	348	348	0	strelka-varscan-mutect	FAM134A,missense_variant,p.Gly447Ala,ENST00000430297,NM_024293.4;FAM134A,intron_variant,,ENST00000420189,;CNPPD1,upstream_gene_variant,,ENST00000409789,;FAM134A,downstream_gene_variant,,ENST00000458520,;FAM134A,downstream_gene_variant,,ENST00000452022,;FAM134A,downstream_gene_variant,,ENST00000430747,;FAM134A,downstream_gene_variant,,ENST00000443757,;FAM134A,3_prime_UTR_variant,,ENST00000273048,;FAM134A,downstream_gene_variant,,ENST00000452293,;FAM134A,downstream_gene_variant,,ENST00000465672,;FAM134A,downstream_gene_variant,,ENST00000481925,;	C	ENST00000430297	Transcript	missense_variant	1476/4618	1340/1632	447/543	G/A	gGc/gCc		1		1	FAM134A	HGNC	HGNC:28450	protein_coding	YES	CCDS2434.1	ENSP00000395249	Q8NC44		UPI000013D996	NM_024293.4	tolerated(0.19)		9/9		hmmpanther:PTHR20952,hmmpanther:PTHR20952:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	219182337	219182337	G	C	1	0	0	0	0	1	0	0	0	5295	1203	42	4		4	FAM134A	2	219182337	Missense_Mutation	SNP	G	C3N-02149_TP	158225	219182337	23011192	106	30038											
SLC4A3	0	.	GRCh38	chr2	219629396	219629396	+	Frame_Shift_Del	DEL	A	A	-																															agaacctgtggagcccccccActcagggaccccacagaagg																								rs759883814,rs597306		C3N-02149_TP	C3N-02149_NB	A	A																c.470delA	p.His157ProfsTer53	p.H157Pfs*53	ENST00000273063	4/23	68	64	4	82	82	0	varindel-pindel	SLC4A3,frameshift_variant,p.His157ProfsTer113,ENST00000358055,NM_005070.3;SLC4A3,frameshift_variant,p.His157ProfsTer53,ENST00000273063,NM_001326559.1,NM_201574.2;SLC4A3,frameshift_variant,p.His157ProfsTer113,ENST00000373760,;SLC4A3,frameshift_variant,p.His157ProfsTer113,ENST00000317151,;SLC4A3,upstream_gene_variant,,ENST00000413743,;AC009955.8,upstream_gene_variant,,ENST00000455896,;SLC4A3,non_coding_transcript_exon_variant,,ENST00000497589,;SLC4A3,frameshift_variant,p.His157ProfsTer113,ENST00000425141,;SLC4A3,upstream_gene_variant,,ENST00000416910,;SLC4A3,upstream_gene_variant,,ENST00000444906,;	-	ENST00000273063	Transcript	frameshift_variant	684/4246	470/3780	157/1259	H/X	cAc/cc	rs759883814,rs597306,COSM1405726	1		1	SLC4A3	HGNC	HGNC:11029	protein_coding	YES	CCDS2446.1	ENSP00000273063	P48751		UPI000022BE50	NM_001326559.1,NM_201574.2			4/23		Prints_domain:PR01189											0,0,1						HIGH	1	deletion	1		0,0,1	1										PASS		.	.												-	7	5	92	219629396	219629396	A	-	1	0	1	0	1	0	0	0	0	14932	159	6	0		0	SLC4A3	2	219629396	Frame_Shift_Del	DEL	A	C3N-02149_TP	447059	219629396	22564133	107	30039											
SH3BP4	0	.	GRCh38	chr2	235052594	235052594	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggactgccagggcctggtGgtcagactcatccaggactt	8	9	13	11	0	2	1	2	0	0	1	3	3	3	3	3	5	1	0	3	5	0	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.2511G>T	p.=	p.V837V	ENST00000409212	5/6	113	95	18	116	116	0	strelka-varscan	SH3BP4,synonymous_variant,p.=,ENST00000409212,;SH3BP4,synonymous_variant,p.=,ENST00000392011,NM_014521.2;SH3BP4,synonymous_variant,p.=,ENST00000344528,;	T	ENST00000409212	Transcript	synonymous_variant	3018/5231	2511/2892	837/963	V	gtG/gtT		1		1	SH3BP4	HGNC	HGNC:10826	protein_coding	YES	CCDS2513.1	ENSP00000386862	Q9P0V3		UPI000006DA47				5/6		hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF3																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	92	235052594	235052594	G	T	1	0	0	0	0	0	0	0	1	14504	1335	47	2		2	SH3BP4	2	235052594	Silent	SNP	G	C3N-02149_TP	15423198	235052594	7140935	108	30040											
GPC1	0	.	GRCh38	chr2	240466122	240466122	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctctgcagccggaaggtCagcaggaagagctccagctc	10	5	13	13	1	2	1	1	0	1	1	4	4	3	3	3	3	5	4	3	3	2	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1509C>A	p.=	p.V503V	ENST00000264039	9/9	236	212	24	263	263	0	strelka-varscan	GPC1,synonymous_variant,p.=,ENST00000264039,NM_002081.2;GPC1,synonymous_variant,p.=,ENST00000420138,;GPC1,synonymous_variant,p.=,ENST00000455111,;GPC1,downstream_gene_variant,,ENST00000425056,;GPC1,downstream_gene_variant,,ENST00000426280,;GPC1,downstream_gene_variant,,ENST00000427506,;GPC1,non_coding_transcript_exon_variant,,ENST00000466624,;GPC1,non_coding_transcript_exon_variant,,ENST00000495100,;GPC1,non_coding_transcript_exon_variant,,ENST00000469694,;	A	ENST00000264039	Transcript	synonymous_variant	1757/3713	1509/1677	503/558	V	gtC/gtA		1		1	GPC1	HGNC	HGNC:4449	protein_coding	YES	CCDS2534.1	ENSP00000264039	P35052		UPI000013D4AA	NM_002081.2			9/9		Low_complexity_(Seg):seg,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF8,Pfam_domain:PF01153																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	240466122	240466122	C	A	1	0	0	0	0	0	0	0	1	6499	813	29	2		2	GPC1	2	240466122	Silent	SNP	C	C3N-02149_TP	5413528	240466122	1727407	109	30041											
ATG7	0	.	GRCh38	chr3	11315343	11315343	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgtgttttctgttttcaGattgaagcactagagtgtgc	9	15	10	7	1	2	3	1	1	1	2	2	3	2	3	0	0	3	3	0	0	3	6	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.529-1G>T		p.X177_splice	ENST00000354449		53	40	13	98	98	0	strelka-varscan-mutect	ATG7,splice_acceptor_variant,,ENST00000354449,NM_006395.2;ATG7,splice_acceptor_variant,,ENST00000354956,NM_001136031.2;ATG7,splice_acceptor_variant,,ENST00000446450,NM_001144912.1;ATG7,splice_acceptor_variant,,ENST00000451830,;ATG7,downstream_gene_variant,,ENST00000451513,;ATG7,splice_acceptor_variant,,ENST00000488924,;ATG7,downstream_gene_variant,,ENST00000464282,;ATG7,splice_acceptor_variant,,ENST00000418682,;ATG7,splice_acceptor_variant,,ENST00000434066,;ATG7,intron_variant,,ENST00000424071,;	T	ENST00000354449	Transcript	splice_acceptor_variant	-/4959	529/2112	177/703				1		1	ATG7	HGNC	HGNC:16935	protein_coding	YES	CCDS2605.1	ENSP00000346437	O95352		UPI00000705C7	NM_006395.2				6/18																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	92	11315343	11315343	G	T	1	0	0	0	0	0	0	1	0	1253	956	33	2		2	ATG7	3	11315343	Splice_Site	SNP	G	C3N-02149_TP		11315343	186980216	110	30042											
FGD5	0	.	GRCh38	chr3	14819315	14819315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggatgaacccaaggacgagGgcagtgtggggaacaaagcc	14	3	16	8	1	0	1	0	1	0	0	0	5	0	4	2	5	3	1	2	5	4	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.244G>T	p.Gly82Cys	p.G82C	ENST00000285046	1/20	65	54	11	83	83	0	strelka-varscan-mutect	FGD5,missense_variant,p.Gly82Cys,ENST00000285046,NM_152536.3;FGD5,5_prime_UTR_variant,,ENST00000543601,NM_001320276.1;FGD5,upstream_gene_variant,,ENST00000457774,;	T	ENST00000285046	Transcript	missense_variant	354/5720	244/4389	82/1462	G/C	Ggc/Tgc		1		1	FGD5	HGNC	HGNC:19117	protein_coding	YES	CCDS46767.1	ENSP00000285046	Q6ZNL6		UPI00002372AE	NM_152536.3	deleterious_low_confidence(0.01)		1/20																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	14819315	14819315	G	T	1	0	0	0	0	1	0	0	0	5700	1232	43	2		2	FGD5	3	14819315	Missense_Mutation	SNP	G	C3N-02149_TP	3503972	14819315	183476244	111	30043											
RFTN1	0	.	GRCh38	chr3	16370103	16370103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattccaaggtagaagactgCgttcaccagcatgcctcctt	10	11	8	12	1	1	2	1	0	0	2	3	2	3	2	4	1	3	3	4	1	4	5	rs138057177		C3N-02149_TP	C3N-02149_NB	C	C																c.1003G>T	p.Ala335Ser	p.A335S	ENST00000334133	6/10	263	236	27	308	308	0	strelka-varscan-mutect	RFTN1,missense_variant,p.Ala335Ser,ENST00000334133,NM_015150.1;RFTN1,missense_variant,p.Ala299Ser,ENST00000432519,;RFTN1,non_coding_transcript_exon_variant,,ENST00000483671,;	A	ENST00000334133	Transcript	missense_variant	1276/2982	1003/1737	335/578	A/S	Gca/Tca	rs138057177	1		-1	RFTN1	HGNC	HGNC:30278	protein_coding	YES	CCDS33712.1	ENSP00000334153	Q14699		UPI00001C1DE7	NM_015150.1	deleterious(0.04)		6/10		Pfam_domain:PF15250,hmmpanther:PTHR17601,hmmpanther:PTHR17601:SF3																	MODERATE	1	SNV	1			1										PASS		rs138057177	.												A	3	1	92	16370103	16370103	C	A	1	0	0	0	0	1	0	0	0	13432	768	27	1		1	RFTN1	3	16370103	Missense_Mutation	SNP	C	C3N-02149_TP	1550788	16370103	181925456	112	30044											
TBC1D5	0	.	GRCh38	chr3	17161136	17161136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggtgcttctgagggtgcGaagaggctgggcctggccgg	6	7	20	8	2	1	3	0	1	1	2	1	4	1	3	2	6	2	2	2	6	1	1	rs781688564		C3N-02149_TP	C3N-02149_NB	G	G																c.2281C>T	p.Arg761Cys	p.R761C	ENST00000446818	24/24	264	218	46	396	396	0	strelka-varscan-mutect	TBC1D5,missense_variant,p.Arg739Cys,ENST00000253692,NM_014744.2;TBC1D5,missense_variant,p.Arg739Cys,ENST00000429383,;TBC1D5,missense_variant,p.Arg761Cys,ENST00000446818,NM_001134381.1;TBC1D5,non_coding_transcript_exon_variant,,ENST00000414318,;	A	ENST00000446818	Transcript	missense_variant	2545/3124	2281/2454	761/817	R/C	Cgc/Tgc	rs781688564,COSM3590246	1		-1	TBC1D5	HGNC	HGNC:19166	protein_coding	YES	CCDS46770.1	ENSP00000402935	Q92609		UPI00017E10F6	NM_001134381.1	tolerated_low_confidence(0.12)		24/24													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs781688564	.												A	3	1	92	17161136	17161136	G	A	1	0	0	0	0	1	0	0	0	16028	1058	37	1		1	TBC1D5	3	17161136	Missense_Mutation	SNP	G	C3N-02149_TP	791033	17161136	181134423	113	30045											
CCDC13	0	.	GRCh38	chr3	42752708	42752708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaccacgtctccggctacaCcggctgtccctaaaatgaaa	11	7	8	15	4	1	1	0	1	1	0	3	2	2	1	4	2	1	2	4	2	4	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.380G>T	p.Gly127Val	p.G127V	ENST00000310232	4/16	144	102	42	191	191	0	strelka-varscan	CCDC13,missense_variant,p.Gly127Val,ENST00000310232,NM_144719.3;CCDC13,non_coding_transcript_exon_variant,,ENST00000435327,;CCDC13,non_coding_transcript_exon_variant,,ENST00000492806,;CCDC13,non_coding_transcript_exon_variant,,ENST00000479576,;RP4-613B23.5,downstream_gene_variant,,ENST00000431549,;	A	ENST00000310232	Transcript	missense_variant	464/2943	380/2148	127/715	G/V	gGt/gTt		1		-1	CCDC13	HGNC	HGNC:26358	protein_coding	YES	CCDS2705.1	ENSP00000309836	Q8IYE1		UPI00001AEF4E	NM_144719.3	deleterious(0)		4/16		hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	42752708	42752708	C	A	1	0	0	0	0	1	0	0	0	2457	507	18	2		2	CCDC13	3	42752708	Missense_Mutation	SNP	C	C3N-02149_TP	25591572	42752708	155542851	114	30046											
SMARCC1	0	.	GRCh38	chr3	47662404	47662404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaaaagcaacagtactCataactggatttcctgactg	15	9	7	10	0	1	1	1	1	0	0	2	2	2	2	2	1	4	2	2	1	6	3	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2088G>T	p.Met696Ile	p.M696I	ENST00000254480	20/28	313	253	60	453	453	0	strelka-varscan	SMARCC1,missense_variant,p.Met696Ile,ENST00000254480,NM_003074.3;SMARCC1,non_coding_transcript_exon_variant,,ENST00000425518,;RP11-395P16.1,upstream_gene_variant,,ENST00000427885,;	A	ENST00000254480	Transcript	missense_variant	2208/6375	2088/3318	696/1105	M/I	atG/atT		1		-1	SMARCC1	HGNC	HGNC:11104	protein_coding	YES	CCDS2758.1	ENSP00000254480	Q92922		UPI000013CE3B	NM_003074.3	deleterious(0.01)		20/28		hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF9																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	47662404	47662404	C	A	1	0	0	0	0	1	0	0	0	15068	826	29	2		2	SMARCC1	3	47662404	Missense_Mutation	SNP	C	C3N-02149_TP	4909696	47662404	150633155	115	30047											
DCAF1	0	.	GRCh38	chr3	51430072	51430072	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccatcatagcggtcaaaGagctccaagacggcccgaaa	15	4	10	12	3	2	3	2	0	0	3	3	4	3	3	3	2	2	1	3	2	4	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1428C>A	p.=	p.L476L	ENST00000423656	10/25	196	183	13	282	281	1	strelka-varscan	DCAF1,synonymous_variant,p.=,ENST00000504652,NM_001171904.1;DCAF1,synonymous_variant,p.=,ENST00000423656,NM_014703.2;DCAF1,intron_variant,,ENST00000335891,;	T	ENST00000423656	Transcript	synonymous_variant	1558/5946	1428/4524	476/1507	L	ctC/ctA		1		-1	DCAF1	HGNC	HGNC:30911	protein_coding	YES	CCDS74943.1	ENSP00000393183	Q9Y4B6		UPI00000716AC	NM_014703.2			10/25		hmmpanther:PTHR13129,hmmpanther:PTHR13129:SF4,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	92	51430072	51430072	G	T	1	0	0	0	0	0	0	0	1	4061	929	33	2		2	DCAF1	3	51430072	Silent	SNP	G	C3N-02149_TP	3767668	51430072	146865487	116	30048											
FLNB	0	.	GRCh38	chr3	58148795	58148795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagtctatggccgcggcCtgtcagaaggccggactttc	8	8	12	13	3	2	1	1	0	1	1	3	2	2	2	4	4	0	0	4	4	3	2			C3N-02149_TP	C3N-02149_NB	C	C																c.6127C>A	p.Leu2043Met	p.L2043M	ENST00000490882	37/47	295	243	52	419	417	2	strelka-varscan	FLNB,missense_variant,p.Leu2012Met,ENST00000295956,NM_001457.3;FLNB,missense_variant,p.Leu2001Met,ENST00000429972,NM_001164318.1;FLNB,missense_variant,p.Leu1988Met,ENST00000358537,NM_001164319.1;FLNB,missense_variant,p.Leu2043Met,ENST00000490882,NM_001164317.1;FLNB,missense_variant,p.Leu1819Met,ENST00000493452,;FLNB,upstream_gene_variant,,ENST00000466455,;FLNB,non_coding_transcript_exon_variant,,ENST00000481470,;FLNB,upstream_gene_variant,,ENST00000477629,;FLNB,downstream_gene_variant,,ENST00000491408,;FLNB,upstream_gene_variant,,ENST00000470231,;	A	ENST00000490882	Transcript	missense_variant	6292/8079	6127/7902	2043/2633	L/M	Ctg/Atg	COSM4502407,COSM4502408,COSM4502409	1		1	FLNB	HGNC	HGNC:3755	protein_coding	YES	CCDS54599.1	ENSP00000420213	O75369		UPI0001765F91	NM_001164317.1	deleterious(0)		37/47		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF238,SMART_domains:SM00557,Superfamily_domains:SSF81296											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	92	58148795	58148795	C	A	1	0	0	0	0	1	0	0	0	5790	680	24	2		2	FLNB	3	58148795	Missense_Mutation	SNP	C	C3N-02149_TP	6718723	58148795	140146764	117	30049											
PDZRN3	0	.	GRCh38	chr3	73384864	73384864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtccgccccacaccgctgtCcttctcgtgctggttggaca	4	10	11	16	3	1	0	0	0	1	0	4	1	3	1	5	3	1	3	5	3	0	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1702G>A	p.Asp568Asn	p.D568N	ENST00000263666	10/10	128	99	29	210	210	0	strelka-varscan	PDZRN3,missense_variant,p.Asp568Asn,ENST00000263666,NM_015009.2;PDZRN3,missense_variant,p.Asp225Asn,ENST00000462146,NM_001303141.1;PDZRN3,missense_variant,p.Asp285Asn,ENST00000479530,NM_001303142.1;PDZRN3,missense_variant,p.Asp225Asn,ENST00000466780,NM_001303140.1;PDZRN3,missense_variant,p.Asp165Asn,ENST00000494559,;PDZRN3,missense_variant,p.Asp266Asn,ENST00000492909,NM_001303139.1;PDZRN3,downstream_gene_variant,,ENST00000466348,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000478209,;PDZRN3,downstream_gene_variant,,ENST00000484487,;	T	ENST00000263666	Transcript	missense_variant	1817/4248	1702/3201	568/1066	D/N	Gac/Aac		1		-1	PDZRN3	HGNC	HGNC:17704	protein_coding	YES	CCDS33789.1	ENSP00000263666	Q9UPQ7		UPI00001C1DE6	NM_015009.2	deleterious(0)		10/10		hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	73384864	73384864	C	T	1	0	0	0	0	1	0	0	0	11797	855	30	3		3	PDZRN3	3	73384864	Missense_Mutation	SNP	C	C3N-02149_TP	15236069	73384864	124910695	118	30050											
SENP7	0	.	GRCh38	chr3	101493969	101493969	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttaacatctttcttatCtgaaaataggatgagaaaat	16	14	6	5	0	3	2	0	2	3	1	3	4	3	3	0	1	1	1	0	1	7	5	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.91-1G>T		p.X31_splice	ENST00000394095		121	103	18	217	217	0	strelka-varscan	SENP7,splice_acceptor_variant,,ENST00000394095,NM_020654.4;SENP7,splice_acceptor_variant,,ENST00000314261,NM_001282801.1;SENP7,splice_acceptor_variant,,ENST00000394094,NM_001077203.2;SENP7,splice_acceptor_variant,,ENST00000394091,NM_001282803.1;SENP7,splice_acceptor_variant,,ENST00000348610,NM_001282802.1;	A	ENST00000394095	Transcript	splice_acceptor_variant	-/4945	91/3153	31/1050				1		-1	SENP7	HGNC	HGNC:30402	protein_coding	YES	CCDS2941.2	ENSP00000377655	Q9BQF6		UPI0000E56ED1	NM_020654.4				2/23																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	92	101493969	101493969	C	A	1	0	0	0	0	0	0	1	0	14327	927	32	2		2	SENP7	3	101493969	Splice_Site	SNP	C	C3N-02149_TP	28109105	101493969	96801590	119	30051											
BOC	0	.	GRCh38	chr3	113274438	113274438	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacacctcctgtatcaccctCcaaactcggcaaccctgagc	10	7	5	19	1	1	1	1	1	0	0	4	1	3	1	5	1	3	2	5	1	3	1			C3N-02149_TP	C3N-02149_NB	C	C																c.1298C>A	p.Ser433Tyr	p.S433Y	ENST00000273395	9/20	58	45	13	69	69	0	strelka-varscan	BOC,missense_variant,p.Ser433Tyr,ENST00000495514,NM_033254.3;BOC,missense_variant,p.Ser433Tyr,ENST00000355385,;BOC,missense_variant,p.Ser433Tyr,ENST00000273395,NM_001301861.1;BOC,upstream_gene_variant,,ENST00000497495,;BOC,downstream_gene_variant,,ENST00000477178,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;BOC,downstream_gene_variant,,ENST00000471963,;	A	ENST00000273395	Transcript	missense_variant	1637/4276	1298/3348	433/1115	S/Y	tCc/tAc	COSM1616732	1		1	BOC	HGNC	HGNC:17173	protein_coding	YES	CCDS77788.1	ENSP00000273395	Q9BWV1		UPI0000D61B53	NM_001301861.1	tolerated(0.32)		9/20		Pfam_domain:PF16625,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF11											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	92	113274438	113274438	C	A	1	0	0	0	0	1	0	0	0	1637	855	30	2		2	BOC	3	113274438	Missense_Mutation	SNP	C	C3N-02149_TP	11780469	113274438	85021121	120	30052											
TF	0	.	GRCh38	chr3	133754545	133754545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgaagaaggatagtggcTtccagatgaaccagcttcga	12	9	13	7	1	0	4	0	2	0	2	2	6	1	5	2	3	2	2	2	3	4	3	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.376T>C	p.Phe126Leu	p.F126L	ENST00000402696	4/17	398	339	59	444	444	0	strelka-varscan	TF,missense_variant,p.Phe126Leu,ENST00000402696,NM_001063.3;TF,5_prime_UTR_variant,,ENST00000482271,;TF,downstream_gene_variant,,ENST00000466911,;TF,non_coding_transcript_exon_variant,,ENST00000475382,;TFP1,non_coding_transcript_exon_variant,,ENST00000460564,;TF,3_prime_UTR_variant,,ENST00000494430,;TF,3_prime_UTR_variant,,ENST00000414694,;TF,non_coding_transcript_exon_variant,,ENST00000493011,;TF,non_coding_transcript_exon_variant,,ENST00000498622,;TF,intron_variant,,ENST00000485977,;TF,downstream_gene_variant,,ENST00000474287,;TF,downstream_gene_variant,,ENST00000460531,;	C	ENST00000402696	Transcript	missense_variant	861/2968	376/2097	126/698	F/L	Ttc/Ctc		1		1	TF	HGNC	HGNC:11740	protein_coding	YES	CCDS3080.1	ENSP00000385834	P02787		UPI000013D5A6	NM_001063.3	tolerated(0.05)		4/17		Gene3D:3.40.190.10,Pfam_domain:PF00405,PIRSF_domain:PIRSF002549,PIRSF_domain:PIRSF500682,PROSITE_profiles:PS51408,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF31,SMART_domains:SM00094,Superfamily_domains:SSF53850																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	133754545	133754545	T	C	1	0	0	0	0	1	0	0	0	16218	1609	56	5		5	TF	3	133754545	Missense_Mutation	SNP	T	C3N-02149_TP	20480107	133754545	64541014	121	30053											
GRK7	0	.	GRCh38	chr3	141778459	141778459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctgaacttccacagcCtgtgtgagcagcagcccatc	8	9	9	15	0	0	2	0	2	0	0	3	2	2	2	4	0	5	2	4	0	1	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.175C>T	p.=	p.L59L	ENST00000264952	1/4	402	344	58	401	401	0	strelka-varscan	GRK7,synonymous_variant,p.=,ENST00000264952,NM_139209.2;	T	ENST00000264952	Transcript	synonymous_variant	312/3239	175/1662	59/553	L	Ctg/Ttg		1		1	GRK7	HGNC	HGNC:17031	protein_coding	YES	CCDS3120.1	ENSP00000264952	Q8WTQ7		UPI000004244D	NM_139209.2			1/4		hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF12,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	141778459	141778459	C	T	1	0	0	0	0	0	0	0	1	6677	680	24	3		3	GRK7	3	141778459	Silent	SNP	C	C3N-02149_TP	8023914	141778459	56517100	122	30054											
ATR	0	.	GRCh38	chr3	142553399	142553399	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatctccttttgcggccCtaaaattaaaaacaacatac	16	10	3	12	1	1	0	0	0	1	0	2	0	1	0	3	1	4	0	3	1	8	5	rs372271245		C3N-02149_TP	C3N-02149_NB	C	C																c.2634-1G>T		p.X878_splice	ENST00000350721		313	266	47	427	426	1	strelka-varscan	ATR,splice_acceptor_variant,,ENST00000350721,NM_001184.3;ATR,downstream_gene_variant,,ENST00000515149,;ATR,downstream_gene_variant,,ENST00000515863,;	A	ENST00000350721	Transcript	splice_acceptor_variant	-/8249	2634/7935	878/2644			rs372271245	1		-1	ATR	HGNC	HGNC:882	protein_coding	YES	CCDS3124.1	ENSP00000343741	Q13535		UPI0000031A31	NM_001184.3				12/46																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	92	142553399	142553399	C	A	1	0	0	0	0	0	0	1	0	1356	695	24	2		2	ATR	3	142553399	Splice_Site	SNP	C	C3N-02149_TP	774940	142553399	55742160	123	30055											
SLITRK3	0	.	GRCh38	chr3	165188499	165188499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgtgtccctggaccccCacgttctgcactccctgctt	3	13	9	16	1	1	0	0	0	1	0	3	1	3	1	4	2	2	4	4	2	0	3			C3N-02149_TP	C3N-02149_NB	C	C																c.2332G>A	p.Gly778Arg	p.G778R	ENST00000475390	2/2	145	122	23	201	201	0	strelka-varscan	SLITRK3,missense_variant,p.Gly778Arg,ENST00000475390,NM_001318811.1,NM_001318810.1;SLITRK3,missense_variant,p.Gly778Arg,ENST00000241274,NM_014926.2;SLITRK3,downstream_gene_variant,,ENST00000497724,;	T	ENST00000475390	Transcript	missense_variant	2776/4555	2332/2934	778/977	G/R	Ggg/Agg	COSM347467	1		-1	SLITRK3	HGNC	HGNC:23501	protein_coding	YES	CCDS3197.1	ENSP00000420091	O94933		UPI000004F259	NM_001318811.1,NM_001318810.1	tolerated(0.19)		2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF14											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	92	165188499	165188499	C	T	1	0	0	0	0	1	0	0	0	15035	594	21	3		3	SLITRK3	3	165188499	Missense_Mutation	SNP	C	C3N-02149_TP	22635100	165188499	33107060	124	30056											
CCDC39	0	.	GRCh38	chr3	180616632	180616632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgaagtttgatgtcttGttcttccattgtttcatctt	6	21	6	8	1	5	1	2	1	3	0	6	2	6	1	1	0	0	3	1	0	1	8	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.2470C>A	p.Gln824Lys	p.Q824K	ENST00000442201	18/20	189	157	32	252	252	0	strelka-varscan	CCDC39,missense_variant,p.Gln824Lys,ENST00000442201,NM_181426.1;CCDC39,missense_variant,p.Gln8Lys,ENST00000473854,;TTC14,intron_variant,,ENST00000382584,NM_001288582.1;CCDC39,upstream_gene_variant,,ENST00000489868,;CCDC39,3_prime_UTR_variant,,ENST00000476379,;	T	ENST00000442201	Transcript	missense_variant	2590/3279	2470/2826	824/941	Q/K	Caa/Aaa		1		-1	CCDC39	HGNC	HGNC:25244	protein_coding	YES	CCDS46964.1	ENSP00000405708	Q9UFE4		UPI00015D7298	NM_181426.1	tolerated(0.7)		18/20		hmmpanther:PTHR18962,hmmpanther:PTHR18962:SF0																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	92	180616632	180616632	G	T	1	0	0	0	0	1	0	0	0	2520	1386	48	2		2	CCDC39	3	180616632	Missense_Mutation	SNP	G	C3N-02149_TP	15428133	180616632	17678927	125	30057											
MCCC1	0	.	GRCh38	chr3	183020200	183020200	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgagctcacagaagataagTatttggggactggaatgtca	13	10	13	5	0	2	3	2	1	0	2	2	5	2	5	0	3	1	2	0	3	4	3	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1907A>G	p.Tyr636Cys	p.Y636C	ENST00000265594	17/19	508	425	83	567	567	0	strelka-varscan	MCCC1,missense_variant,p.Tyr527Cys,ENST00000492597,;MCCC1,missense_variant,p.Tyr636Cys,ENST00000265594,NM_020166.4;MCCC1,missense_variant,p.Tyr486Cys,ENST00000610757,NM_001293273.1;MCCC1,missense_variant,p.Tyr589Cys,ENST00000476176,;MCCC1,3_prime_UTR_variant,,ENST00000629669,;MCCC1-AS1,downstream_gene_variant,,ENST00000471731,;MCCC1,downstream_gene_variant,,ENST00000489909,;MCCC1,3_prime_UTR_variant,,ENST00000497959,;MCCC1,3_prime_UTR_variant,,ENST00000497830,;MCCC1,3_prime_UTR_variant,,ENST00000495767,;MCCC1,non_coding_transcript_exon_variant,,ENST00000464601,;	C	ENST00000265594	Transcript	missense_variant	2054/2545	1907/2178	636/725	Y/C	tAc/tGc		1		-1	MCCC1	HGNC	HGNC:6936	protein_coding	YES	CCDS3241.1	ENSP00000265594	Q96RQ3	A0A0S2Z693	UPI000013D646	NM_020166.4	deleterious(0.01)		17/19		hmmpanther:PTHR18866																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	183020200	183020200	T	C	1	0	0	0	0	1	0	0	0	9304	1638	57	5		5	MCCC1	3	183020200	Missense_Mutation	SNP	T	C3N-02149_TP	2403568	183020200	15275359	126	30058											
LAMP3	0	.	GRCh38	chr3	183135830	183135830	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacgcacttgaaggaaTgcccgactgctgtctggaac	10	8	10	13	2	2	1	1	1	1	0	2	4	2	3	1	2	3	2	1	2	3	1	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1004A>T	p.His335Leu	p.H335L	ENST00000265598	5/6	226	189	37	259	259	0	strelka-varscan	LAMP3,missense_variant,p.His335Leu,ENST00000265598,NM_014398.3;LAMP3,missense_variant,p.His311Leu,ENST00000466939,;	A	ENST00000265598	Transcript	missense_variant	1260/3375	1004/1251	335/416	H/L	cAt/cTt		1		-1	LAMP3	HGNC	HGNC:14582	protein_coding	YES	CCDS3242.1	ENSP00000265598	Q9UQV4		UPI000006DB7A	NM_014398.3	deleterious(0)		5/6		Pfam_domain:PF01299,Prints_domain:PR00336,PROSITE_profiles:PS51407,hmmpanther:PTHR11506,hmmpanther:PTHR11506:SF30																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	183135830	183135830	T	A	1	0	0	0	0	1	0	0	0	8523	1464	51	4		4	LAMP3	3	183135830	Missense_Mutation	SNP	T	C3N-02149_TP	115630	183135830	15159729	127	30059											
TBCCD1	0	.	GRCh38	chr3	186556683	186556683	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactatgggttgaatgaaaTgatgcagtgagttgttttgg	10	15	13	3	0	0	4	0	4	0	0	0	4	0	4	0	2	2	4	0	2	4	6	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.585A>G	p.=	p.S195S	ENST00000424280	4/8	459	390	69	530	530	0	strelka-varscan	TBCCD1,synonymous_variant,p.=,ENST00000424280,NM_001134415.1;TBCCD1,synonymous_variant,p.=,ENST00000338733,NM_018138.4;TBCCD1,synonymous_variant,p.=,ENST00000446782,NM_001286749.1;TBCCD1,synonymous_variant,p.=,ENST00000413695,;TBCCD1,downstream_gene_variant,,ENST00000430560,;TBCCD1,upstream_gene_variant,,ENST00000479590,;	C	ENST00000424280	Transcript	synonymous_variant	1065/3058	585/1674	195/557	S	tcA/tcG		1		-1	TBCCD1	HGNC	HGNC:25546	protein_coding	YES	CCDS3276.1	ENSP00000411253	Q9NVR7		UPI0000073055	NM_001134415.1			4/8		hmmpanther:PTHR16052,hmmpanther:PTHR16052:SF0																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	92	186556683	186556683	T	C	1	0	0	0	0	0	0	0	1	16037	1451	51	5		5	TBCCD1	3	186556683	Silent	SNP	T	C3N-02149_TP	3420853	186556683	11738876	128	30060											
RTP2	0	.	GRCh38	chr3	187698659	187698659	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaggtggtcacctcctcctCcagcagcttctcgctgggct	4	11	11	15	1	2	0	1	0	1	0	6	0	5	0	4	3	2	5	4	3	1	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.517G>T	p.Glu173Ter	p.E173*	ENST00000358241	2/2	144	115	29	169	169	0	strelka-varscan	RTP2,stop_gained,p.Glu173Ter,ENST00000358241,NM_001004312.2;RP11-211G3.3,upstream_gene_variant,,ENST00000449623,;RP11-211G3.3,upstream_gene_variant,,ENST00000437407,;	A	ENST00000358241	Transcript	stop_gained	946/1346	517/678	173/225	E/*	Gag/Tag		1		-1	RTP2	HGNC	HGNC:32486	protein_coding	YES	CCDS33911.1	ENSP00000350976	Q5QGT7		UPI00001D801A	NM_001004312.2			2/2		hmmpanther:PTHR14402:SF18,hmmpanther:PTHR14402																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	92	187698659	187698659	C	A	1	0	0	0	0	0	1	0	0	13994	864	30	2		2	RTP2	3	187698659	Nonsense_Mutation	SNP	C	C3N-02149_TP	1141976	187698659	10596900	129	30061											
NRROS	0	.	GRCh38	chr3	196660227	196660227	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggaactacatcttcgAgatcgagggcggcgctttcg	9	8	14	10	5	1	2	0	0	1	2	4	5	1	3	0	3	2	2	0	3	2	3	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.584A>T	p.Glu195Val	p.E195V	ENST00000328557	3/3	229	196	33	261	261	0	strelka-varscan	NRROS,missense_variant,p.Glu195Val,ENST00000328557,NM_198565.2;PIGX,intron_variant,,ENST00000426755,;	T	ENST00000328557	Transcript	missense_variant	787/2564	584/2079	195/692	E/V	gAg/gTg		1		1	NRROS	HGNC	HGNC:24613	protein_coding	YES	CCDS3319.1	ENSP00000328625	Q86YC3		UPI000000DA7E	NM_198565.2	deleterious(0)		3/3		PROSITE_profiles:PS51450,hmmpanther:PTHR24365:SF347,hmmpanther:PTHR24365,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	196660227	196660227	A	T	1	0	0	0	0	1	0	0	0	10720	304	11	4		4	NRROS	3	196660227	Missense_Mutation	SNP	A	C3N-02149_TP	8961568	196660227	1635332	130	30062											
C1QTNF7	0	.	GRCh38	chr4	15442396	15442396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttttctgttggcatcacaaCcagctacccagaagaaagac	13	9	7	12	0	2	3	1	0	1	3	2	3	2	3	2	1	3	3	2	1	4	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.488C>A	p.Thr163Asn	p.T163N	ENST00000295297	3/3	354	254	100	436	435	1	strelka-varscan	C1QTNF7,missense_variant,p.Thr163Asn,ENST00000295297,NM_001135170.1;C1QTNF7,missense_variant,p.Thr156Asn,ENST00000429690,NM_001135171.1;C1QTNF7,missense_variant,p.Thr156Asn,ENST00000444304,NM_031911.4;C1QTNF7,downstream_gene_variant,,ENST00000397700,;C1QTNF7,downstream_gene_variant,,ENST00000382383,;	A	ENST00000295297	Transcript	missense_variant	747/4516	488/891	163/296	T/N	aCc/aAc		1		1	C1QTNF7	HGNC	HGNC:14342	protein_coding	YES	CCDS47025.1	ENSP00000295297	Q9BXJ2		UPI000004E7F9	NM_001135170.1	deleterious(0.04)		3/3		PROSITE_profiles:PS50871,hmmpanther:PTHR24023:SF561,hmmpanther:PTHR24023,Pfam_domain:PF00386,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	15442396	15442396	C	A	1	0	0	0	0	1	0	0	0	1946	507	18	2		2	C1QTNF7	4	15442396	Missense_Mutation	SNP	C	C3N-02149_TP		15442396	174772159	131	30063											
GABRG1	0	.	GRCh38	chr4	46065485	46065486	+	Frame_Shift_Ins	INS	-	-	A																															tcaggaatccaaatttttccINSaaccatattactgttaagca																								novel		C3N-02149_TP	C3N-02149_NB	-	-																c.420dupT	p.Gly141TrpfsTer7	p.G141Wfs*7	ENST00000295452	4/9	284	228	56	390	390	0	sindel-varindel-pindel	GABRG1,frameshift_variant,p.Gly141TrpfsTer7,ENST00000295452,NM_173536.3;	A	ENST00000295452	Transcript	frameshift_variant	588-589/6785	420-421/1398	140-141/465	-/X	-/T		1		-1	GABRG1	HGNC	HGNC:4086	protein_coding	YES	CCDS3470.1	ENSP00000295452	Q8N1C3		UPI0000047AE2	NM_173536.3			4/9		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,TIGRFAM_domain:TIGR00860																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	92	46065485	46065485	-	A	1	0	1	1	0	0	0	0	0	6042	603	21	0		0	GABRG1	4	46065485	Frame_Shift_Ins	INS	-	C3N-02149_TP	30623089	46065485	144149070	132	30064											
FRYL	0	.	GRCh38	chr4	48540476	48540476	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagagctgctgaagtcCtggaaaattagtccatttca	14	10	10	7	0	1	2	1	1	0	1	3	4	3	4	2	2	2	2	2	2	6	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.6172G>T	p.Gly2058Ter	p.G2058*	ENST00000358350	46/64	421	302	119	534	533	1	strelka-varscan-mutect	FRYL,stop_gained,p.Gly2058Ter,ENST00000358350,NM_015030.1;FRYL,stop_gained,p.Gly2058Ter,ENST00000503238,;FRYL,stop_gained,p.Gly928Ter,ENST00000514617,;FRYL,5_prime_UTR_variant,,ENST00000507873,;FRYL,non_coding_transcript_exon_variant,,ENST00000512297,;FRYL,non_coding_transcript_exon_variant,,ENST00000513401,;	A	ENST00000358350	Transcript	stop_gained	6777/11706	6172/9042	2058/3013	G/*	Gga/Tga		1		-1	FRYL	HGNC	HGNC:29127	protein_coding	YES	CCDS43227.1	ENSP00000351113	O94915		UPI0000EBC149	NM_015030.1			46/64		Pfam_domain:PF14225,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF9,Superfamily_domains:SSF48371																	HIGH	1	SNV	5			1										PASS		rs1225660262	.												A	4	1	92	48540476	48540476	C	A	1	0	0	0	0	0	1	0	0	5936	690	24	2		2	FRYL	4	48540476	Nonsense_Mutation	SNP	C	C3N-02149_TP	2474991	48540476	141674079	133	30065											
EPHA5	0	.	GRCh38	chr4	65490705	65490705	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcattccgaggagcagaGgggggtcctggtttacaaag	10	8	16	7	1	0	1	0	0	0	1	2	3	2	2	2	6	2	3	2	6	2	3	rs554706022		C3N-02149_TP	C3N-02149_NB	G	G																c.1074C>A	p.=	p.P358P	ENST00000622150	5/18	130	106	24	161	160	1	strelka-varscan	EPHA5,synonymous_variant,p.=,ENST00000622150,NM_001281765.1;EPHA5,synonymous_variant,p.=,ENST00000613740,NM_001281766.1;EPHA5,synonymous_variant,p.=,ENST00000273854,NM_004439.6;EPHA5,synonymous_variant,p.=,ENST00000511294,NM_001281767.1;EPHA5,synonymous_variant,p.=,ENST00000354839,NM_182472.3;EPHA5,intron_variant,,ENST00000432638,;	T	ENST00000622150	Transcript	synonymous_variant	1827/8421	1074/3117	358/1038	P	ccC/ccA	rs554706022	1		-1	EPHA5	HGNC	HGNC:3389	protein_coding	YES	CCDS75133.1	ENSP00000480763		B7ZKJ3	UPI0000EE2CFD	NM_001281765.1			5/18		Gene3D:2.60.40.10,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF17,SMART_domains:SM00060,Superfamily_domains:SSF49265																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	65490705	65490705	G	T	1	0	0	0	0	0	0	0	1	5017	987	35	2		2	EPHA5	4	65490705	Silent	SNP	G	C3N-02149_TP	16950229	65490705	124723850	134	30066											
SLC4A4	0	.	GRCh38	chr4	71451255	71451255	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccccatgatggaggtcacGgaggaggaggacatggggat	10	5	18	8	2	1	1	1	1	0	0	1	7	1	7	2	8	0	0	2	8	0	0	rs760529597		C3N-02149_TP	C3N-02149_NB	G	G																c.1276G>T	p.Gly426Ter	p.G426*	ENST00000425175	11/25	439	348	91	553	552	1	strelka-varscan	SLC4A4,stop_gained,p.Gly382Ter,ENST00000340595,NM_003759.3;SLC4A4,stop_gained,p.Gly426Ter,ENST00000425175,NM_001134742.1;SLC4A4,stop_gained,p.Gly426Ter,ENST00000264485,NM_001098484.2;SLC4A4,stop_gained,p.Gly426Ter,ENST00000351898,;SLC4A4,stop_gained,p.Gly382Ter,ENST00000512686,;SLC4A4,non_coding_transcript_exon_variant,,ENST00000514331,;	T	ENST00000425175	Transcript	stop_gained	1393/7596	1276/3285	426/1094	G/*	Gga/Tga	rs760529597,COSM1430830,COSM1430831	1		1	SLC4A4	HGNC	HGNC:11030	protein_coding	YES	CCDS47071.1	ENSP00000393557	Q9Y6R1	A5JJ20	UPI000152897D	NM_001134742.1			11/25		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF10,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00834											0,1,1						HIGH	1	SNV	5		0,1,1	1										PASS		.	.												T	4	4	92	71451255	71451255	G	T	1	0	0	0	0	0	1	0	0	14933	1117	39	1		1	SLC4A4	4	71451255	Nonsense_Mutation	SNP	G	C3N-02149_TP	5960550	71451255	118763300	135	30067											
SPARCL1	0	.	GRCh38	chr4	87493687	87493687	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaatggattgagctctctcGgcctccagaaaggcctggct	8	9	12	12	1	1	2	0	1	1	1	4	3	2	3	3	4	1	3	3	4	2	1	rs746453849		C3N-02149_TP	C3N-02149_NB	G	G																c.1113C>A	p.=	p.A371A	ENST00000418378	5/12	166	131	35	221	221	0	strelka-varscan-mutect	SPARCL1,synonymous_variant,p.=,ENST00000418378,NM_001128310.2;SPARCL1,synonymous_variant,p.=,ENST00000282470,NM_004684.5;SPARCL1,synonymous_variant,p.=,ENST00000503414,NM_001291977.1,NM_001291976.1;SPARCL1,downstream_gene_variant,,ENST00000434434,;SPARCL1,downstream_gene_variant,,ENST00000541496,;SPARCL1,downstream_gene_variant,,ENST00000512317,;SPARCL1,downstream_gene_variant,,ENST00000509407,;SPARCL1,downstream_gene_variant,,ENST00000543631,;SPARCL1,downstream_gene_variant,,ENST00000458304,;SPARCL1,downstream_gene_variant,,ENST00000535835,;	T	ENST00000418378	Transcript	synonymous_variant	1685/2994	1113/1995	371/664	A	gcC/gcA	rs746453849	1		-1	SPARCL1	HGNC	HGNC:11220	protein_coding	YES	CCDS3622.1	ENSP00000414856	Q14515	A0A024RDE1	UPI000013DCE3	NM_001128310.2			5/12		hmmpanther:PTHR13866:SF16,hmmpanther:PTHR13866,PIRSF_domain:PIRSF002574																	LOW	1	SNV	5			1										PASS		rs746453849	.												T	2	4	92	87493687	87493687	G	T	1	0	0	0	0	0	0	0	1	15327	1103	39	1		1	SPARCL1	4	87493687	Silent	SNP	G	C3N-02149_TP	16042432	87493687	102720868	136	30068											
SPP1	0	.	GRCh38	chr4	87981785	87981785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatctaagaagtttcgcaGacctgacatccaggtaaatc	16	9	7	9	1	1	3	0	1	1	2	4	3	2	3	2	1	0	3	2	1	6	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.527G>A	p.Arg176Lys	p.R176K	ENST00000395080	6/7	124	94	30	177	177	0	strelka-varscan-mutect	SPP1,missense_variant,p.Arg162Lys,ENST00000237623,NM_000582.2;SPP1,missense_variant,p.Arg154Lys,ENST00000614857,NM_001251830.1;SPP1,missense_variant,p.Arg176Lys,ENST00000395080,NM_001040058.1;SPP1,missense_variant,p.Arg149Lys,ENST00000360804,NM_001040060.1;SPP1,missense_variant,p.Arg135Lys,ENST00000508233,NM_001251829.1;SPP1,non_coding_transcript_exon_variant,,ENST00000509659,;SPP1,downstream_gene_variant,,ENST00000509334,;SPP1,downstream_gene_variant,,ENST00000513981,;SPP1,downstream_gene_variant,,ENST00000508002,;SPP1,downstream_gene_variant,,ENST00000504310,;SPP1,downstream_gene_variant,,ENST00000505146,;	A	ENST00000395080	Transcript	missense_variant	654/1473	527/945	176/314	R/K	aGa/aAa		1		1	SPP1	HGNC	HGNC:11255	protein_coding	YES	CCDS43250.1	ENSP00000378517	P10451	A0A024RDE2	UPI0000000E0B	NM_001040058.1	tolerated(0.58)		6/7		hmmpanther:PTHR10607:SF1,hmmpanther:PTHR10607,Pfam_domain:PF00865,SMART_domains:SM00017																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	87981785	87981785	G	A	1	0	0	0	0	1	0	0	0	15439	942	33	3		3	SPP1	4	87981785	Missense_Mutation	SNP	G	C3N-02149_TP	488098	87981785	102232770	137	30069											
GRID2	0	.	GRCh38	chr4	93490735	93490735	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcttacacggcaaaccTcgctgctttcctcactatta	9	13	4	15	2	3	0	2	0	1	0	5	0	4	0	2	1	3	3	2	1	4	4	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1955T>C	p.Leu652Pro	p.L652P	ENST00000282020	12/16	145	132	13	176	176	0	strelka-varscan-mutect	GRID2,missense_variant,p.Leu652Pro,ENST00000282020,NM_001510.3;GRID2,missense_variant,p.Leu571Pro,ENST00000611049,;GRID2,missense_variant,p.Leu557Pro,ENST00000510992,NM_001286838.1;	C	ENST00000282020	Transcript	missense_variant	2990/6117	1955/3024	652/1007	L/P	cTc/cCc		1		1	GRID2	HGNC	HGNC:4576	protein_coding	YES	CCDS3637.1	ENSP00000282020	O43424		UPI00001AEA78	NM_001510.3	deleterious(0)		12/16		Transmembrane_helices:TMhelix,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF109,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079,Prints_domain:PR00177																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	93490735	93490735	T	C	1	0	0	0	0	1	0	0	0	6652	1551	54	5		5	GRID2	4	93490735	Missense_Mutation	SNP	T	C3N-02149_TP	5508950	93490735	96723820	138	30070											
SCLT1	0	.	GRCh38	chr4	128948514	128948514	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttttctagttcttcttcCactgcttttttttccttaat	5	23	2	11	0	3	0	0	0	3	0	5	0	5	0	3	0	1	2	3	0	2	11	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1275G>T	p.=	p.V425V	ENST00000281142	15/21	153	114	39	216	216	0	strelka-varscan-mutect	SCLT1,synonymous_variant,p.=,ENST00000281142,NM_144643.3;SCLT1,intron_variant,,ENST00000503215,;SCLT1,intron_variant,,ENST00000439369,;SCLT1,non_coding_transcript_exon_variant,,ENST00000502495,;SCLT1,non_coding_transcript_exon_variant,,ENST00000506233,;RP11-209D20.2,downstream_gene_variant,,ENST00000612976,;	A	ENST00000281142	Transcript	synonymous_variant	1779/3055	1275/2067	425/688	V	gtG/gtT		1		-1	SCLT1	HGNC	HGNC:26406	protein_coding	YES	CCDS3740.1	ENSP00000281142	Q96NL6		UPI000013DC5F	NM_144643.3			15/21		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF478,Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	92	128948514	128948514	C	A	1	0	0	0	0	0	0	0	1	14175	581	21	2		2	SCLT1	4	128948514	Silent	SNP	C	C3N-02149_TP	35457779	128948514	61266041	139	30071											
TKTL2	0	.	GRCh38	chr4	163473393	163473393	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgtcaacaaacggcaatcgGggggtagggtgtctctccaa	11	7	13	10	3	2	0	1	0	1	0	5	0	3	0	1	5	2	2	1	5	5	1	rs34405980		C3N-02149_TP	C3N-02149_NB	G	G																c.342C>T	p.=	p.P114P	ENST00000280605	1/1	128	107	21	201	201	0	strelka-varscan	TKTL2,synonymous_variant,p.=,ENST00000280605,NM_032136.4;	A	ENST00000280605	Transcript	synonymous_variant	354/2654	342/1881	114/626	P	ccC/ccT	rs34405980	1		-1	TKTL2	HGNC	HGNC:25313	protein_coding	YES	CCDS3805.1	ENSP00000280605	Q9H0I9	A0A140VKC2	UPI0000037C67	NM_032136.4			1/1		hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF49,Pfam_domain:PF00456,Gene3D:3.40.50.970,Superfamily_domains:SSF52518																	LOW	1	SNV				1										PASS		.	.												A	2	1	92	163473393	163473393	G	A	1	0	0	0	0	0	0	0	1	16379	1219	43	3		3	TKTL2	4	163473393	Silent	SNP	G	C3N-02149_TP	34524879	163473393	26741162	140	30072											
TLL1	0	.	GRCh38	chr4	166039438	166039438	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagaaaatcacctctcCttggtaagatatcctttccc	11	12	6	12	0	2	2	1	0	1	2	5	3	4	2	4	2	0	1	4	2	4	4	rs775648272		C3N-02149_TP	C3N-02149_NB	C	C																c.1258C>A	p.Leu420Ile	p.L420I	ENST00000061240	10/21	292	253	39	449	447	2	strelka-varscan	TLL1,missense_variant,p.Leu420Ile,ENST00000061240,NM_012464.4;TLL1,missense_variant,p.Leu420Ile,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	A	ENST00000061240	Transcript	missense_variant	1905/6708	1258/3042	420/1013	L/I	Ctt/Att	rs775648272	1		1	TLL1	HGNC	HGNC:11843	protein_coding	YES	CCDS3811.1	ENSP00000061240	O43897		UPI0000072EED	NM_012464.4	tolerated(0.29)		10/21		Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001199,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	166039438	166039438	C	A	1	0	0	0	0	1	0	0	0	16391	695	24	2		2	TLL1	4	166039438	Missense_Mutation	SNP	C	C3N-02149_TP	2566045	166039438	24175117	141	30073											
PLEKHG4B	0	.	GRCh38	chr5	163495	163495	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagagccggagtctgtcCtccccctcggggctccaccc	5	7	10	19	2	2	1	1	0	1	1	6	2	5	2	6	3	1	1	6	3	0	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2355C>T	p.=	p.S785S	ENST00000283426	11/18	231	153	78	186	186	0	strelka-varscan-mutect	PLEKHG4B,synonymous_variant,p.=,ENST00000637938,;PLEKHG4B,synonymous_variant,p.=,ENST00000283426,NM_052909.3;	T	ENST00000283426	Transcript	synonymous_variant	2405/11515	2355/3816	785/1271	S	tcC/tcT		1		1	PLEKHG4B	HGNC	HGNC:29399	protein_coding	YES	CCDS34124.1	ENSP00000283426	Q96PX9		UPI0000D615EE	NM_052909.3			11/18		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF119																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	163495	163495	C	T	1	0	0	0	0	0	0	0	1	12165	668	24	3		3	PLEKHG4B	5	163495	Silent	SNP	C	C3N-02149_TP		163495	181374764	142	30074											
SLC12A7	0	.	GRCh38	chr5	1078715	1078715	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtacttatctcgtaagacCacgccttcaatgcaggcccc	10	9	7	15	3	2	1	1	0	1	1	3	1	2	1	4	1	2	3	4	1	4	4	rs750535834		C3N-02149_TP	C3N-02149_NB	C	C																c.1440G>T	p.=	p.V480V	ENST00000264930	11/24	358	262	96	305	304	1	strelka-varscan-mutect	SLC12A7,synonymous_variant,p.=,ENST00000264930,NM_006598.2;SLC12A7,synonymous_variant,p.=,ENST00000634447,;SLC12A7,upstream_gene_variant,,ENST00000513223,;SLC12A7,non_coding_transcript_exon_variant,,ENST00000510943,;SLC12A7,upstream_gene_variant,,ENST00000504576,;	A	ENST00000264930	Transcript	synonymous_variant	1484/5280	1440/3252	480/1083	V	gtG/gtT	rs750535834	1		-1	SLC12A7	HGNC	HGNC:10915	protein_coding	YES	CCDS34129.1	ENSP00000264930	Q9Y666		UPI0000141815	NM_006598.2			11/24		Pfam_domain:PF00324,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF47,TIGRFAM_domain:TIGR00930																	LOW	1	SNV	1			1										PASS		rs750535834	.												A	2	1	92	1078715	1078715	C	A	1	0	0	0	0	0	0	0	1	14653	581	21	2		2	SLC12A7	5	1078715	Silent	SNP	C	C3N-02149_TP	915220	1078715	180459544	143	30075											
SLC6A3	0	.	GRCh38	chr5	1411267	1411267	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgatacccagggtgagCagcatgatgaagaagaccac	13	6	12	10	1	0	5	0	3	0	2	1	6	0	5	2	1	3	2	2	1	3	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1245G>T	p.=	p.L415L	ENST00000270349	9/15	665	594	71	568	567	1	strelka-varscan-mutect	SLC6A3,synonymous_variant,p.=,ENST00000270349,NM_001044.4;SLC6A3,downstream_gene_variant,,ENST00000511750,;	A	ENST00000270349	Transcript	synonymous_variant	1373/3936	1245/1863	415/620	L	ctG/ctT		1		-1	SLC6A3	HGNC	HGNC:11049	protein_coding	YES	CCDS3863.1	ENSP00000270349	Q01959		UPI000013548F	NM_001044.4			9/15		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF38,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	1411267	1411267	C	A	1	0	0	0	0	0	0	0	1	14968	697	25	2		2	SLC6A3	5	1411267	Silent	SNP	C	C3N-02149_TP	332552	1411267	180126992	144	30076											
UBE2QL1	0	.	GRCh38	chr5	6449114	6449114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgcgggtgctcagccCgcgcctggagaacggctacg	6	7	14	14	5	2	1	2	0	0	1	2	2	2	1	2	3	5	2	2	3	2	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.221C>T	p.Pro74Leu	p.P74L	ENST00000399816	1/2	128	89	39	126	126	0	strelka-varscan-mutect	UBE2QL1,missense_variant,p.Pro74Leu,ENST00000399816,NM_001145161.2;	T	ENST00000399816	Transcript	missense_variant	492/4317	221/486	74/161	P/L	cCg/cTg		1		1	UBE2QL1	HGNC	HGNC:37269	protein_coding	YES	CCDS47189.1	ENSP00000382713	A1L167		UPI000020BF29	NM_001145161.2	deleterious(0)		1/2		PROSITE_profiles:PS50127,hmmpanther:PTHR24068:SF72,hmmpanther:PTHR24068,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	6449114	6449114	C	T	1	0	0	0	0	1	0	0	0	17393	652	23	1		1	UBE2QL1	5	6449114	Missense_Mutation	SNP	C	C3N-02149_TP	5037847	6449114	175089145	145	30077											
CTNND2	0	.	GRCh38	chr5	11364718	11364718	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcgtgcggtaggtgccGgtgtgtgctggcggcagagg	3	9	21	8	4	0	1	0	0	0	1	1	1	0	1	1	6	4	4	1	6	1	1	rs138883759		C3N-02149_TP	C3N-02149_NB	G	G																c.1350C>A	p.=	p.T450T	ENST00000304623	8/22	205	174	31	210	209	1	strelka-varscan-mutect	CTNND2,synonymous_variant,p.=,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,synonymous_variant,p.=,ENST00000511377,NM_001288715.1;CTNND2,synonymous_variant,p.=,ENST00000503622,NM_001288716.1;CTNND2,synonymous_variant,p.=,ENST00000502551,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,non_coding_transcript_exon_variant,,ENST00000504354,;CTNND2,non_coding_transcript_exon_variant,,ENST00000506735,;CTNND2,downstream_gene_variant,,ENST00000511278,;CTNND2,synonymous_variant,p.=,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;CTNND2,non_coding_transcript_exon_variant,,ENST00000507430,;	T	ENST00000304623	Transcript	synonymous_variant	1540/5481	1350/3678	450/1225	T	acC/acA	rs138883759,COSM385245	1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1			8/22		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9											0,1						LOW	1	SNV	1		0,1	1										PASS		rs138883759	.												T	2	4	92	11364718	11364718	G	T	1	0	0	0	0	0	0	0	1	3829	1103	39	1		1	CTNND2	5	11364718	Silent	SNP	G	C3N-02149_TP	4915604	11364718	170173541	146	30078											
CDH10	0	.	GRCh38	chr5	24491805	24491805	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctattgaatccattttttctGgttaagattctggcagtatt	9	19	7	6	0	2	2	0	1	2	1	3	2	3	2	1	2	0	3	1	2	4	9	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1647C>A	p.=	p.T549T	ENST00000264463	11/12	164	135	29	183	183	0	strelka-varscan-mutect	CDH10,synonymous_variant,p.=,ENST00000264463,NM_006727.3;CDH10,non_coding_transcript_exon_variant,,ENST00000502921,;CDH10,3_prime_UTR_variant,,ENST00000510477,;CDH10,non_coding_transcript_exon_variant,,ENST00000503958,;	T	ENST00000264463	Transcript	synonymous_variant	2155/3438	1647/2367	549/788	T	acC/acA		1		-1	CDH10	HGNC	HGNC:1749	protein_coding	YES	CCDS3892.1	ENSP00000264463	Q9Y6N8	X5D8X5	UPI0000167B7B	NM_006727.3			11/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	24491805	24491805	G	T	1	0	0	0	0	0	0	0	1	2799	1335	47	2		2	CDH10	5	24491805	Silent	SNP	G	C3N-02149_TP	13127087	24491805	157046454	147	30079											
MTMR12	0	.	GRCh38	chr5	32230126	32230126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactttgatttcgggcccCtcgatatgcggtaacaacaa	11	10	9	11	3	0	2	0	1	0	1	2	3	0	2	2	2	3	1	2	2	4	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1896G>T	p.Glu632Asp	p.E632D	ENST00000382142	16/16	145	103	42	139	139	0	strelka-varscan-mutect	MTMR12,missense_variant,p.Glu632Asp,ENST00000382142,NM_001040446.2;MTMR12,missense_variant,p.Glu578Asp,ENST00000280285,NM_001294343.1;MTMR12,missense_variant,p.Glu522Asp,ENST00000264934,NM_001294344.1;RNU6-1079P,downstream_gene_variant,,ENST00000362861,;MTMR12,non_coding_transcript_exon_variant,,ENST00000510216,;	A	ENST00000382142	Transcript	missense_variant	2067/5187	1896/2244	632/747	E/D	gaG/gaT		1		-1	MTMR12	HGNC	HGNC:18191	protein_coding	YES	CCDS34138.1	ENSP00000371577	Q9C0I1		UPI00001678D2	NM_001040446.2	tolerated(0.51)		16/16		Pfam_domain:PF12578,PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF37,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	32230126	32230126	C	A	1	0	0	0	0	1	0	0	0	9929	680	24	2		2	MTMR12	5	32230126	Missense_Mutation	SNP	C	C3N-02149_TP	7738321	32230126	149308133	148	30080											
ADAMTS12	0	.	GRCh38	chr5	33549282	33549282	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatgggggaggaatgccGgccaggaactggcagtgaaa	12	5	16	8	1	1	1	1	1	0	0	1	4	1	4	2	6	2	1	2	6	4	0	rs61748195		C3N-02149_TP	C3N-02149_NB	G	G																c.4227C>A	p.=	p.A1409A	ENST00000504830	21/24	241	211	30	229	228	1	strelka-varscan-mutect	ADAMTS12,synonymous_variant,p.=,ENST00000504830,NM_030955.2;ADAMTS12,synonymous_variant,p.=,ENST00000352040,;	T	ENST00000504830	Transcript	synonymous_variant	4563/8774	4227/4785	1409/1594	A	gcC/gcA	rs61748195,COSM4436224	1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2			21/24		Gene3D:2.20.100.10,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,SMART_domains:SM00209,Superfamily_domains:SSF82895											0,1						LOW	1	SNV	1		0,1	1										PASS		rs61748195	.												T	2	4	92	33549282	33549282	G	T	1	0	0	0	0	0	0	0	1	301	1103	39	1		1	ADAMTS12	5	33549282	Silent	SNP	G	C3N-02149_TP	1319156	33549282	147988977	149	30081											
ADAMTS12	0	.	GRCh38	chr5	33577159	33577159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaccacaggaaacagaaCactagaagagagaaacagct	20	2	8	11	0	0	4	0	0	0	4	0	6	0	5	2	1	4	1	2	1	5	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2867G>A	p.Cys956Tyr	p.C956Y	ENST00000504830	19/24	552	483	69	498	498	0	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Cys956Tyr,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Cys871Tyr,ENST00000352040,;ADAMTS12,splice_region_variant,,ENST00000504582,;	T	ENST00000504830	Transcript	missense_variant,splice_region_variant	3203/8774	2867/4785	956/1594	C/Y	tGt/tAt		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	deleterious(0.03)		19/24		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	33577159	33577159	C	T	1	0	0	0	0	1	0	0	0	301	492	17	3		3	ADAMTS12	5	33577159	Missense_Mutation	SNP	C	C3N-02149_TP	27877	33577159	147961100	150	30082											
UGT3A1	0	.	GRCh38	chr5	35955809	35955809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaccatgacggatggcCtccattacgctgttctgccc	7	9	10	15	2	1	1	0	1	1	0	2	2	2	2	4	3	2	3	4	3	1	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1131G>T	p.Glu377Asp	p.E377D	ENST00000274278	6/7	345	254	91	377	377	0	strelka-varscan-mutect	UGT3A1,missense_variant,p.Glu377Asp,ENST00000274278,NM_152404.3;UGT3A1,missense_variant,p.Glu377Asp,ENST00000503189,;UGT3A1,missense_variant,p.Glu343Asp,ENST00000507113,;UGT3A1,downstream_gene_variant,,ENST00000625798,NM_001171873.1;UGT3A1,non_coding_transcript_exon_variant,,ENST00000513233,;UGT3A1,3_prime_UTR_variant,,ENST00000515801,;	A	ENST00000274278	Transcript	missense_variant	1489/5122	1131/1572	377/523	E/D	gaG/gaT		1		-1	UGT3A1	HGNC	HGNC:26625	protein_coding	YES	CCDS3913.1	ENSP00000274278	Q6NUS8	A8K444	UPI000003C38B	NM_152404.3	deleterious(0.02)		6/7		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF208,PROSITE_patterns:PS00375,Gene3D:3.40.50.2000,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	35955809	35955809	C	A	1	0	0	0	0	1	0	0	0	17487	680	24	2		2	UGT3A1	5	35955809	Missense_Mutation	SNP	C	C3N-02149_TP	2378650	35955809	145582450	151	30083											
PLCXD3	0	.	GRCh38	chr5	41382366	41382366	+	Missense_Mutation	SNP	C	C	A																															gaagatcaaaataacgaattCcagctcctagctggccagta																								novel		C3N-02149_TP	C3N-02149_NB	C	C																c.272G>T	p.Gly91Val	p.G91V	ENST00000377801	2/3	251	213	38	251	251	0	strelka-varscan-mutect	PLCXD3,missense_variant,p.Gly91Val,ENST00000377801,;PLCXD3,missense_variant,p.Gly91Val,ENST00000328457,NM_001005473.2;	A	ENST00000377801	Transcript	missense_variant	347/7704	272/966	91/321	G/V	gGa/gTa		1		-1	PLCXD3	HGNC	HGNC:31822	protein_coding	YES	CCDS34150.1	ENSP00000367032	Q63HM9		UPI0000049DBB		deleterious(0)		2/3		Gene3D:3.20.20.190,PROSITE_profiles:PS50007,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33,SMART_domains:SM00148,Superfamily_domains:SSF51695																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	92	41382366	41382366	C	A	1	0	0	0	0	1	0	0	0	12137	855	30	2		2	PLCXD3	5	41382366	Missense_Mutation	SNP	C	C3N-02149_TP	5426557	41382366	140155893	152	30084	625	2									
PLCXD3	0	.	GRCh38	chr5	41382367	41382367	+	Nonsense_Mutation	SNP	C	C	A																															aagatcaaaataacgaattcCagctcctagctggccagtaa																								novel		C3N-02149_TP	C3N-02149_NB	C	C																c.271G>T	p.Gly91Ter	p.G91*	ENST00000377801	2/3	253	216	37	253	252	1	strelka-varscan-mutect	PLCXD3,stop_gained,p.Gly91Ter,ENST00000377801,;PLCXD3,stop_gained,p.Gly91Ter,ENST00000328457,NM_001005473.2;	A	ENST00000377801	Transcript	stop_gained	346/7704	271/966	91/321	G/*	Gga/Tga		1		-1	PLCXD3	HGNC	HGNC:31822	protein_coding	YES	CCDS34150.1	ENSP00000367032	Q63HM9		UPI0000049DBB				2/3		Gene3D:3.20.20.190,PROSITE_profiles:PS50007,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33,SMART_domains:SM00148,Superfamily_domains:SSF51695																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	92	41382367	41382367	C	A	1	0	0	0	0	0	1	0	0	12137	603	21	2		2	PLCXD3	5	41382367	Nonsense_Mutation	SNP	C	C3N-02149_TP	1	41382367	140155892	153	30085	625	2									
SREK1	0	.	GRCh38	chr5	66178817	66178817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacaaaatacagcacaatggGaattgtcagctgaatgaaga	19	7	9	6	0	1	3	1	2	0	1	1	4	1	4	0	1	4	2	0	1	8	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1824G>A	p.=	p.G608G	ENST00000334121	12/12	124	107	17	187	186	1	strelka-varscan-mutect	SREK1,synonymous_variant,p.=,ENST00000334121,NM_001323527.1,NM_001323529.1,NM_001077199.2;SREK1,synonymous_variant,p.=,ENST00000380918,NM_001270492.1,NM_139168.3;SREK1,non_coding_transcript_exon_variant,,ENST00000284041,;SREK1,3_prime_UTR_variant,,ENST00000520953,;SREK1,3_prime_UTR_variant,,ENST00000522912,;SREK1,non_coding_transcript_exon_variant,,ENST00000519259,;SREK1,non_coding_transcript_exon_variant,,ENST00000522214,;SREK1,non_coding_transcript_exon_variant,,ENST00000519205,;	A	ENST00000334121	Transcript	synonymous_variant	1983/6781	1824/1875	608/624	G	ggG/ggA		1		1	SREK1	HGNC	HGNC:17882	protein_coding	YES	CCDS43323.1	ENSP00000334538	Q8WXA9		UPI00000467F2	NM_001323527.1,NM_001323529.1,NM_001077199.2			12/12		hmmpanther:PTHR32343,hmmpanther:PTHR32343:SF7																	LOW	1	SNV	2			1										PASS		rs1224659869	.												A	2	1	92	66178817	66178817	G	A	1	0	0	0	0	0	0	0	1	15500	1161	41	3		3	SREK1	5	66178817	Silent	SNP	G	C3N-02149_TP	24796450	66178817	115359442	154	30086											
UTP15	0	.	GRCh38	chr5	73578767	73578767	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggatgacattttgattaAcaggccagcaaagaagcacc	15	7	10	9	0	0	3	0	2	0	1	0	4	0	4	2	2	3	3	2	2	3	3	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1061A>T	p.Asn354Ile	p.N354I	ENST00000296792	10/13	239	192	47	275	275	0	strelka-varscan-mutect	UTP15,missense_variant,p.Asn164Ile,ENST00000543251,NM_001284431.1;UTP15,missense_variant,p.Asn354Ile,ENST00000296792,NM_032175.3;UTP15,missense_variant,p.Asn381Ile,ENST00000509005,;UTP15,missense_variant,p.Asn335Ile,ENST00000508491,NM_001284430.1;UTP15,downstream_gene_variant,,ENST00000512550,;	T	ENST00000296792	Transcript	missense_variant	1316/3687	1061/1557	354/518	N/I	aAc/aTc		1		1	UTP15	HGNC	HGNC:25758	protein_coding	YES	CCDS34186.1	ENSP00000296792	Q8TED0		UPI000020CADC	NM_032175.3	deleterious(0.03)		10/13		hmmpanther:PTHR19924:SF26,hmmpanther:PTHR19924,Pfam_domain:PF09384																	MODERATE	1	SNV	1			1										PASS		rs1223250851	.												T	3	4	92	73578767	73578767	A	T	1	0	0	0	0	1	0	0	0	17640	43	2	4		4	UTP15	5	73578767	Missense_Mutation	SNP	A	C3N-02149_TP	7399950	73578767	107959492	155	30087											
ANKRD34B	0	.	GRCh38	chr5	80559794	80559794	+	Missense_Mutation	SNP	C	C	A																															tttgtcctgtatgttgggatCggcattgttctctaacaggt																								rs775271852		C3N-02149_TP	C3N-02149_NB	C	C																c.226G>T	p.Asp76Tyr	p.D76Y	ENST00000338682	5/5	219	176	43	332	331	1	strelka-varscan-mutect	ANKRD34B,missense_variant,p.Asp76Tyr,ENST00000338682,NM_001004441.2;ANKRD34B,downstream_gene_variant,,ENST00000508916,;	A	ENST00000338682	Transcript	missense_variant	899/3938	226/1545	76/514	D/Y	Gat/Tat	rs775271852	1		-1	ANKRD34B	HGNC	HGNC:33736	protein_coding	YES	CCDS34194.1	ENSP00000339802	A5PLL1		UPI00003672FA	NM_001004441.2	deleterious(0)		5/5		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24156,hmmpanther:PTHR24156:SF1,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs775271852	.												A	3	1	92	80559794	80559794	C	A	1	0	0	0	0	1	0	0	0	768	884	31	1		1	ANKRD34B	5	80559794	Missense_Mutation	SNP	C	C3N-02149_TP	6981027	80559794	100978465	156	30088	626	2									
ANKRD34B	0	.	GRCh38	chr5	80559795	80559795	+	Silent	SNP	G	G	C																															ttgtcctgtatgttgggatcGgcattgttctctaacaggta																								novel		C3N-02149_TP	C3N-02149_NB	G	G																c.225C>G	p.=	p.A75A	ENST00000338682	5/5	211	170	41	325	325	0	strelka-varscan-mutect	ANKRD34B,synonymous_variant,p.=,ENST00000338682,NM_001004441.2;ANKRD34B,downstream_gene_variant,,ENST00000508916,;	C	ENST00000338682	Transcript	synonymous_variant	898/3938	225/1545	75/514	A	gcC/gcG		1		-1	ANKRD34B	HGNC	HGNC:33736	protein_coding	YES	CCDS34194.1	ENSP00000339802	A5PLL1		UPI00003672FA	NM_001004441.2			5/5		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24156,hmmpanther:PTHR24156:SF1,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	92	80559795	80559795	G	C	1	0	0	0	0	0	0	0	1	768	1103	39	4		4	ANKRD34B	5	80559795	Silent	SNP	G	C3N-02149_TP	1	80559795	100978464	157	30089	626	2									
ADGRV1	0	.	GRCh38	chr5	90829137	90829137	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttaatcagtctgcaggtggCcagagattctgggacaggac	10	10	13	8	0	3	1	1	0	2	1	3	4	3	3	1	4	1	1	1	4	1	3	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.16562C>G	p.Ala5521Gly	p.A5521G	ENST00000405460	77/90	68	50	18	84	84	0	strelka-varscan-mutect	ADGRV1,missense_variant,p.Ala5521Gly,ENST00000405460,NM_032119.3;ADGRV1,missense_variant,p.Ala1182Gly,ENST00000425867,;	G	ENST00000405460	Transcript	missense_variant	16658/19338	16562/18921	5521/6306	A/G	gCc/gGc		1		1	ADGRV1	HGNC	HGNC:17416	protein_coding	YES	CCDS47246.1	ENSP00000384582	Q8WXG9		UPI00002127A7	NM_032119.3	tolerated(0.33)		77/90		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	90829137	90829137	C	G	1	0	0	0	0	1	0	0	0	379	739	26	4		4	ADGRV1	5	90829137	Missense_Mutation	SNP	C	C3N-02149_TP	10269342	90829137	90709122	158	30090											
ST8SIA4	0	.	GRCh38	chr5	100902928	100902928	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagacttattgtgcagaTcgtccacctcttcctaatgg	9	12	9	11	1	1	2	0	0	1	2	4	3	3	2	3	1	2	2	3	1	2	4	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.28A>T	p.Ile10Phe	p.I10F	ENST00000231461	1/5	217	181	36	338	338	0	strelka-varscan-mutect	ST8SIA4,missense_variant,p.Ile10Phe,ENST00000231461,NM_005668.5;ST8SIA4,missense_variant,p.Ile10Phe,ENST00000451528,NM_175052.2;ST8SIA4,missense_variant,p.Ile10Phe,ENST00000523381,;	A	ENST00000231461	Transcript	missense_variant	339/6303	28/1080	10/359	I/F	Atc/Ttc		1		-1	ST8SIA4	HGNC	HGNC:10871	protein_coding	YES	CCDS4091.1	ENSP00000231461	Q92187		UPI0000135973	NM_005668.5			1/5		PIRSF_domain:PIRSF005557,hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF31,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		rs1374895196	.												A	3	1	92	100902928	100902928	T	A	1	0	0	0	0	1	0	0	0	15612	1435	50	4		4	ST8SIA4	5	100902928	Missense_Mutation	SNP	T	C3N-02149_TP	10073791	100902928	80635331	159	30091											
NUDT12	0	.	GRCh38	chr5	103559156	103559156	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagctgacaaagcctaacTtctggctgttggaaactttc	10	13	8	10	0	2	1	1	1	1	0	3	2	2	2	1	2	4	3	1	2	3	5	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.519A>T	p.Glu173Asp	p.E173D	ENST00000230792	3/7	58	41	17	78	78	0	strelka-varscan-mutect	NUDT12,missense_variant,p.Glu173Asp,ENST00000230792,NM_031438.3;NUDT12,missense_variant,p.Glu155Asp,ENST00000507423,NM_001300741.1;NUDT12,upstream_gene_variant,,ENST00000515407,;NUDT12,downstream_gene_variant,,ENST00000508889,;	A	ENST00000230792	Transcript	missense_variant	616/3492	519/1389	173/462	E/D	gaA/gaT		1		-1	NUDT12	HGNC	HGNC:18826	protein_coding	YES	CCDS4096.1	ENSP00000230792	Q9BQG2		UPI0000073C53	NM_031438.3	tolerated(0.14)		3/7		Pfam_domain:PF09296																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	103559156	103559156	T	A	1	0	0	0	0	1	0	0	0	10792	1606	56	4		4	NUDT12	5	103559156	Missense_Mutation	SNP	T	C3N-02149_TP	2656228	103559156	77979103	160	30092											
DMXL1	0	.	GRCh38	chr5	119149701	119149701	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaccagtcttgcacagAaaatctgtggaaagaaaact	16	8	8	9	0	2	3	0	1	2	2	2	4	2	4	2	1	2	1	2	1	5	1	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.3874A>T	p.Lys1292Ter	p.K1292*	ENST00000539542	18/44	206	154	52	272	271	1	strelka-varscan-mutect	DMXL1,stop_gained,p.Lys1292Ter,ENST00000539542,NM_001290321.2;DMXL1,stop_gained,p.Lys1292Ter,ENST00000311085,NM_001290322.2,NM_005509.5;MIR5706,upstream_gene_variant,,ENST00000579841,;DMXL1,downstream_gene_variant,,ENST00000512281,;	T	ENST00000539542	Transcript	stop_gained	4055/11236	3874/9147	1292/3048	K/*	Aaa/Taa		1		1	DMXL1	HGNC	HGNC:2937	protein_coding	YES	CCDS75289.1	ENSP00000439479		F5H269	UPI000206568B	NM_001290321.2			18/44		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12,Pfam_domain:PF12234																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	92	119149701	119149701	A	T	1	0	0	0	0	0	1	0	0	4403	247	9	4		4	DMXL1	5	119149701	Nonsense_Mutation	SNP	A	C3N-02149_TP	15590545	119149701	62388558	161	30093											
FBN2	0	.	GRCh38	chr5	128395158	128395158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcttcaggaatggttcCgatgccccagcagcggccag	9	6	13	13	2	1	0	1	0	0	0	2	2	2	1	4	4	3	3	4	4	1	2	rs142228933		C3N-02149_TP	C3N-02149_NB	C	C																c.1195G>A	p.Gly399Arg	p.G399R	ENST00000508053	15/71	366	340	26	441	441	0	strelka-varscan-mutect	FBN2,missense_variant,p.Gly399Arg,ENST00000508053,;FBN2,missense_variant,p.Gly399Arg,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Gly398Arg,ENST00000619499,;FBN2,missense_variant,p.Gly366Arg,ENST00000508989,;	T	ENST00000508053	Transcript	missense_variant	2170/11132	1195/8739	399/2912	G/R	Gga/Aga	rs142228933	1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		deleterious(0.02)		15/71		Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,Superfamily_domains:SSF57581																	MODERATE	1	SNV	5			1										PASS		rs142228933	.												T	3	4	92	128395158	128395158	C	T	1	0	0	0	0	1	0	0	0	5566	661	23	1		1	FBN2	5	128395158	Missense_Mutation	SNP	C	C3N-02149_TP	9245457	128395158	53143101	162	30094											
JADE2	0	.	GRCh38	chr5	134579299	134579299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggaggtggtccgcatGggcgtactggcctcctaact	7	8	15	11	2	0	1	0	0	0	1	2	2	2	2	3	5	2	3	3	5	2	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.2487G>T	p.Met829Ile	p.M829I	ENST00000282605	12/12	71	47	24	98	98	0	strelka-varscan-mutect	JADE2,missense_variant,p.Met785Ile,ENST00000395003,NM_015288.5;JADE2,missense_variant,p.Met786Ile,ENST00000361895,NM_001289984.1;JADE2,missense_variant,p.Met829Ile,ENST00000282605,NM_001308143.1,NM_001289985.1;JADE2,missense_variant,p.Met241Ile,ENST00000612830,;JADE2,3_prime_UTR_variant,,ENST00000402835,;JADE2,3_prime_UTR_variant,,ENST00000430087,;JADE2,downstream_gene_variant,,ENST00000470876,;	T	ENST00000282605	Transcript	missense_variant	2573/2748	2487/2505	829/834	M/I	atG/atT		1		1	JADE2	HGNC	HGNC:22984	protein_coding	YES	CCDS78061.1	ENSP00000282605		G3XAA4	UPI00000437CA	NM_001308143.1,NM_001289985.1	tolerated_low_confidence(0.14)		12/12																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	92	134579299	134579299	G	T	1	0	0	0	0	1	0	0	0	7845	1348	47	2		2	JADE2	5	134579299	Missense_Mutation	SNP	G	C3N-02149_TP	6184141	134579299	46958960	163	30095											
IL9	0	.	GRCh38	chr5	135895786	135895786	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccacggagcacaggagcaGggcagaggtaaggaccatgg	12	3	17	9	1	0	1	0	0	0	1	0	4	0	4	2	6	3	4	2	6	1	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.31C>T	p.=	p.L11L	ENST00000274520	1/5	284	227	57	393	393	0	strelka-varscan-mutect	IL9,synonymous_variant,p.=,ENST00000274520,NM_000590.1;GS1-39E22.1,downstream_gene_variant,,ENST00000523722,;GS1-39E22.2,upstream_gene_variant,,ENST00000522973,;	A	ENST00000274520	Transcript	synonymous_variant	42/591	31/435	11/144	L	Ctg/Ttg		1		-1	IL9	HGNC	HGNC:6029	protein_coding	YES	CCDS4189.1	ENSP00000274520	P15248		UPI000004F0F9	NM_000590.1			1/5		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR16926:SF1,hmmpanther:PTHR16926																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	135895786	135895786	G	A	1	0	0	0	0	0	0	0	1	7610	991	35	3		3	IL9	5	135895786	Silent	SNP	G	C3N-02149_TP	1316487	135895786	45642473	164	30096											
NRG2	0	.	GRCh38	chr5	139887507	139887507	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcttcttcaacttgggccgGgtggctgtgggttacaaggc	6	12	14	9	1	3	0	1	0	2	0	3	0	3	0	1	5	2	2	1	5	3	4	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.705C>A	p.=	p.T235T	ENST00000361474	2/10	111	84	27	123	123	0	strelka-varscan-mutect	NRG2,synonymous_variant,p.=,ENST00000541337,NM_001184935.1;NRG2,synonymous_variant,p.=,ENST00000361474,NM_004883.2;NRG2,synonymous_variant,p.=,ENST00000289422,NM_013982.2;NRG2,synonymous_variant,p.=,ENST00000358522,NM_013983.2;NRG2,synonymous_variant,p.=,ENST00000289409,NM_013981.3;NRG2,synonymous_variant,p.=,ENST00000340391,;NRG2,non_coding_transcript_exon_variant,,ENST00000518130,;NRG2,synonymous_variant,p.=,ENST00000378238,;	T	ENST00000361474	Transcript	synonymous_variant	930/3020	705/2553	235/850	T	acC/acA		1		-1	NRG2	HGNC	HGNC:7998	protein_coding	YES	CCDS4217.1	ENSP00000354910	O14511		UPI0000130507	NM_004883.2			2/10		hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF20																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	139887507	139887507	G	T	1	0	0	0	0	0	0	0	1	10706	1246	43	2		2	NRG2	5	139887507	Silent	SNP	G	C3N-02149_TP	3991721	139887507	41650752	165	30097											
PCDHB9	0	.	GRCh38	chr5	141189185	141189185	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgtgtgggcgcacaatgggGaggtgcgcaccgccaggctg	6	6	19	10	3	0	0	0	0	0	0	0	1	0	1	2	5	1	3	2	5	1	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1867G>T	p.Glu623Ter	p.E623*	ENST00000316105	1/1	316	266	50	425	425	0	strelka-varscan-mutect	PCDHB9,stop_gained,p.Glu623Ter,ENST00000316105,NM_019119.4;PCDHB16,downstream_gene_variant,,ENST00000609684,NM_020957.3;PCDHB10,upstream_gene_variant,,ENST00000239446,NM_018930.3;PCDHB16,downstream_gene_variant,,ENST00000625044,;PCDHB9,downstream_gene_variant,,ENST00000624909,;CH17-140K24.5,downstream_gene_variant,,ENST00000623884,;CH17-140K24.7,intron_variant,,ENST00000624549,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,upstream_gene_variant,,ENST00000624089,;CH17-140K24.6,downstream_gene_variant,,ENST00000625144,;PCDHB9,downstream_gene_variant,,ENST00000623266,;CH17-140K24.5,downstream_gene_variant,,ENST00000623407,;	T	ENST00000316105	Transcript	stop_gained	2059/4415	1867/2394	623/797	E/*	Gag/Tag		1		1	PCDHB9	HGNC	HGNC:8694	protein_coding	YES	CCDS75328.1	ENSP00000478606	Q9Y5E1		UPI00005764A0	NM_019119.4			1/1		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF128,hmmpanther:PTHR24028,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	HIGH		SNV				1										PASS		.	.												T	4	4	92	141189185	141189185	G	T	1	0	0	0	0	0	1	0	0	11636	1175	41	2		2	PCDHB9	5	141189185	Nonsense_Mutation	SNP	G	C3N-02149_TP	1301678	141189185	40349074	166	30098											
PCDHGA1	0	.	GRCh38	chr5	141332318	141332318	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatccgcccctcagcagcaAcgtgtctctcagcctattcc	7	9	8	17	2	3	0	2	0	1	0	6	1	5	1	5	1	4	2	5	1	2	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1634A>T	p.Asn545Ile	p.N545I	ENST00000517417	1/4	435	320	115	574	574	0	strelka-varscan-mutect	PCDHGA1,missense_variant,p.Asn545Ile,ENST00000517417,NM_018912.2;PCDHGA1,missense_variant,p.Asn545Ile,ENST00000378105,NM_031993.1;AC005618.6,downstream_gene_variant,,ENST00000606901,;AC005618.6,downstream_gene_variant,,ENST00000606674,;	T	ENST00000517417	Transcript	missense_variant	1634/4604	1634/2796	545/931	N/I	aAc/aTc		1		1	PCDHGA1	HGNC	HGNC:8696	protein_coding	YES	CCDS54922.1	ENSP00000431083	Q9Y5H4		UPI0000070596	NM_018912.2	deleterious_low_confidence(0)		1/4		Low_complexity_(Seg):seg,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF108,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	1			1										PASS		rs1412029044	.												T	3	4	92	141332318	141332318	A	T	1	0	0	0	0	1	0	0	0	11637	43	2	4		4	PCDHGA1	5	141332318	Missense_Mutation	SNP	A	C3N-02149_TP	143133	141332318	40205941	167	30099											
PCDHGA3	0	.	GRCh38	chr5	141346041	141346041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggccgacaggatccccGacatcctggccgacctgggc	6	5	13	17	4	0	0	0	0	0	0	2	4	2	1	7	4	0	0	7	4	0	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.2008G>T	p.Asp670Tyr	p.D670Y	ENST00000253812	1/4	344	267	77	410	410	0	strelka-varscan-mutect	PCDHGA3,missense_variant,p.Asp670Tyr,ENST00000253812,NM_018916.3;PCDHGA3,missense_variant,p.Asp670Tyr,ENST00000619750,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,upstream_gene_variant,,ENST00000523390,NM_018922.2;PCDHGA2,downstream_gene_variant,,ENST00000528330,NM_032009.2;PCDHGB1,upstream_gene_variant,,ENST00000611598,NM_032095.1;AC005618.8,downstream_gene_variant,,ENST00000625053,;PCDHGA3,3_prime_UTR_variant,,ENST00000612467,;	T	ENST00000253812	Transcript	missense_variant	2174/4771	2008/2799	670/932	D/Y	Gac/Tac		1		1	PCDHGA3	HGNC	HGNC:8701	protein_coding	YES	CCDS47290.1	ENSP00000253812	Q9Y5H0		UPI0000161C1A	NM_018916.3	deleterious_low_confidence(0)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	141346041	141346041	G	T	1	0	0	0	0	1	0	0	0	11642	1058	37	1		1	PCDHGA3	5	141346041	Missense_Mutation	SNP	G	C3N-02149_TP	13723	141346041	40192218	168	30100											
PCDHGA4	0	.	GRCh38	chr5	141356347	141356347	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggaaatggcctagtcAcatgttctattccagataat	13	11	9	8	0	2	1	1	0	1	1	3	3	3	3	2	3	0	1	2	3	4	5	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1240A>T	p.Thr414Ser	p.T414S	ENST00000571252	1/4	192	130	62	281	280	1	strelka-varscan-mutect	PCDHGA4,missense_variant,p.Thr414Ser,ENST00000571252,NM_018917.3;PCDHGA4,missense_variant,p.Thr414Ser,ENST00000612927,NM_032053.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB2,upstream_gene_variant,,ENST00000522605,NM_018923.2;PCDHGB1,downstream_gene_variant,,ENST00000611598,NM_032095.1;PCDHGB2,upstream_gene_variant,,ENST00000622527,NM_032096.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000571252	Transcript	missense_variant	1323/4778	1240/2889	414/962	T/S	Aca/Tca		1		1	PCDHGA4	HGNC	HGNC:8702	protein_coding	YES	CCDS58979.2	ENSP00000458570		A0A087WT05	UPI0003583741	NM_018917.3	tolerated_low_confidence(0.16)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF94,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs1480466141	.												T	3	4	92	141356347	141356347	A	T	1	0	0	0	0	1	0	0	0	11643	159	6	4		4	PCDHGA4	5	141356347	Missense_Mutation	SNP	A	C3N-02149_TP	10306	141356347	40181912	169	30101											
PCDHGB3	0	.	GRCh38	chr5	141372256	141372256	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgttcagcctgggccTgcgcacgggtgaggtgcgca	4	7	18	12	4	1	1	1	1	0	0	1	1	1	1	2	4	3	4	2	4	0	1	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1862T>A	p.Leu621Gln	p.L621Q	ENST00000576222	1/4	251	199	52	283	283	0	strelka-varscan-mutect	PCDHGB3,missense_variant,p.Leu621Gln,ENST00000576222,NM_018924.4;PCDHGB3,missense_variant,p.Leu621Gln,ENST00000618934,NM_032097.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA6,upstream_gene_variant,,ENST00000610583,NM_032086.1;PCDHGA6,upstream_gene_variant,,ENST00000517434,NM_018919.2;PCDHGA5,downstream_gene_variant,,ENST00000611914,NM_032054.1;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000576222	Transcript	missense_variant	1993/4727	1862/2790	621/929	L/Q	cTg/cAg		1		1	PCDHGB3	HGNC	HGNC:8710	protein_coding	YES	CCDS58980.1	ENSP00000461862	Q9Y5G1		UPI0000EE35B5	NM_018924.4	deleterious(0.02)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	141372256	141372256	T	A	1	0	0	0	0	1	0	0	0	11651	1580	55	4		4	PCDHGB3	5	141372256	Missense_Mutation	SNP	T	C3N-02149_TP	15909	141372256	40166003	170	30102											
PCDHGA7	0	.	GRCh38	chr5	141384258	141384258	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gataacccacccaccttcccCcactcatcctactcagtcta	10	9	2	20	0	3	0	2	0	1	0	5	1	5	0	6	0	2	0	6	0	3	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1359C>A	p.=	p.P453P	ENST00000518325	1/4	192	145	47	242	241	1	strelka-varscan-mutect	PCDHGA7,synonymous_variant,p.=,ENST00000518325,NM_018920.3;PCDHGA7,synonymous_variant,p.=,ENST00000617050,NM_032087.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGA6,downstream_gene_variant,,ENST00000610583,NM_032086.1;PCDHGB4,upstream_gene_variant,,ENST00000615384,NM_032098.1;PCDHGB4,upstream_gene_variant,,ENST00000519479,NM_003736.2;PCDHGA3,intron_variant,,ENST00000612467,;	A	ENST00000518325	Transcript	synonymous_variant	1359/4605	1359/2799	453/932	P	ccC/ccA		1		1	PCDHGA7	HGNC	HGNC:8705	protein_coding	YES	CCDS54927.1	ENSP00000430024	Q9Y5G6		UPI000007146F	NM_018920.3			1/4		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF56,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	141384258	141384258	C	A	1	0	0	0	0	0	0	0	1	11646	610	22	2		2	PCDHGA7	5	141384258	Silent	SNP	C	C3N-02149_TP	12002	141384258	40154001	171	30103											
TIGD6	0	.	GRCh38	chr5	149995231	149995231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggacgatgcctgccttcTgccaacatttcaccactgtg	8	11	9	13	1	2	0	1	0	1	0	2	2	2	1	4	1	4	0	4	1	2	3	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1118A>G	p.Gln373Arg	p.Q373R	ENST00000296736	2/2	278	221	57	387	387	0	strelka-varscan-mutect	TIGD6,missense_variant,p.Gln373Arg,ENST00000296736,NM_030953.3;TIGD6,missense_variant,p.Gln373Arg,ENST00000515406,NM_001243253.1;HMGXB3,upstream_gene_variant,,ENST00000613459,;SLC26A2,downstream_gene_variant,,ENST00000503336,;TIGD6,downstream_gene_variant,,ENST00000532987,;	C	ENST00000296736	Transcript	missense_variant	1893/4006	1118/1566	373/521	Q/R	cAg/cGg		1		-1	TIGD6	HGNC	HGNC:18332	protein_coding	YES	CCDS4301.1	ENSP00000296736	Q17RP2		UPI000006D946	NM_030953.3	tolerated(1)		2/2		hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF179																	MODERATE	1	SNV	1			1										PASS		rs1261896517	.												C	3	2	92	149995231	149995231	T	C	1	0	0	0	0	1	0	0	0	16338	1580	55	5		5	TIGD6	5	149995231	Missense_Mutation	SNP	T	C3N-02149_TP	8610973	149995231	31543028	172	30104											
ADAM19	0	.	GRCh38	chr5	157509410	157509410	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacttcacacatgttccCgtgggtccacacttccaagc	10	10	7	14	1	1	1	1	1	0	0	4	1	4	1	3	1	2	1	3	1	2	3	rs369469519		C3N-02149_TP	C3N-02149_NB	C	C																c.796G>T	p.Gly266Trp	p.G266W	ENST00000257527	9/23	145	122	23	197	197	0	strelka-varscan-mutect	ADAM19,missense_variant,p.Gly266Trp,ENST00000257527,NM_033274.4;ADAM19,missense_variant,p.Gly266Trp,ENST00000517905,;ADAM19,missense_variant,p.Arg269Leu,ENST00000517951,;	A	ENST00000257527	Transcript	missense_variant	875/6481	796/2757	266/918	G/W	Ggg/Tgg	rs369469519	1		-1	ADAM19	HGNC	HGNC:197	protein_coding	YES	CCDS4338.1	ENSP00000257527	Q9H013		UPI000013CF6A	NM_033274.4	tolerated(0.2)		9/23		PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF19,hmmpanther:PTHR11905,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		rs369469519	.												A	3	1	92	157509410	157509410	C	A	1	0	0	0	0	1	0	0	0	284	652	23	1		1	ADAM19	5	157509410	Missense_Mutation	SNP	C	C3N-02149_TP	7514179	157509410	24028849	173	30105											
TENM2	0	.	GRCh38	chr5	168203797	168203797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaacctcggtggctggtCcctagacaaacaccacatcc	10	7	7	17	1	0	1	0	0	0	1	4	1	3	1	5	3	2	1	5	3	3	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.3539C>A	p.Ser1180Tyr	p.S1180Y	ENST00000518659	18/29	106	75	31	159	159	0	strelka-varscan-mutect	TENM2,missense_variant,p.Ser1059Tyr,ENST00000519204,;TENM2,missense_variant,p.Ser1180Tyr,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Ser948Tyr,ENST00000520394,;	A	ENST00000518659	Transcript	missense_variant	3578/8550	3539/8325	1180/2774	S/Y	tCc/tAc		1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1	deleterious(0)		18/29		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	92	168203797	168203797	C	A	1	0	0	0	0	1	0	0	0	16172	855	30	2		2	TENM2	5	168203797	Missense_Mutation	SNP	C	C3N-02149_TP	10694387	168203797	13334462	174	30106											
GABRP	0	.	GRCh38	chr5	170797472	170797472	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttccctcttagaatcacGacaactgttgcatgtaacat	11	15	5	10	1	2	1	1	0	1	1	3	2	3	1	1	0	3	3	1	0	4	5	rs148144716		C3N-02149_TP	C3N-02149_NB	G	G																c.465G>T	p.=	p.T155T	ENST00000518525	7/11	143	117	26	185	184	1	strelka-varscan-mutect	GABRP,synonymous_variant,p.=,ENST00000518525,;GABRP,synonymous_variant,p.=,ENST00000265294,NM_014211.2;GABRP,synonymous_variant,p.=,ENST00000519385,NM_001291985.1;GABRP,synonymous_variant,p.=,ENST00000519598,;GABRP,synonymous_variant,p.=,ENST00000521481,;GABRP,synonymous_variant,p.=,ENST00000522868,;GABRP,downstream_gene_variant,,ENST00000519196,;GABRP,downstream_gene_variant,,ENST00000521009,;GABRP,downstream_gene_variant,,ENST00000519137,;	T	ENST00000518525	Transcript	synonymous_variant	929/3576	465/1323	155/440	T	acG/acT	rs148144716,COSM449314	1		1	GABRP	HGNC	HGNC:4089	protein_coding	YES	CCDS4375.1	ENSP00000430100	O00591		UPI000003C534				7/11		hmmpanther:PTHR18945:SF33,hmmpanther:PTHR18945,Pfam_domain:PF02931,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932											0,1						LOW	1	SNV	5		0,1	1										PASS		rs148144716	.												T	2	4	92	170797472	170797472	G	T	1	0	0	0	0	0	0	0	1	6045	1045	37	1		1	GABRP	5	170797472	Silent	SNP	G	C3N-02149_TP	2593675	170797472	10740787	175	30107											
STK10	0	.	GRCh38	chr5	172117503	172117503	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcctgatgtctccctcgagGgtcatcagcacgttgccagc	7	9	11	14	2	3	1	2	1	1	0	5	2	3	1	3	1	4	2	3	1	0	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.498C>T	p.=	p.T166T	ENST00000176763	4/19	229	181	48	299	298	1	strelka-varscan-mutect	STK10,synonymous_variant,p.=,ENST00000176763,NM_005990.3;STK10,non_coding_transcript_exon_variant,,ENST00000519710,;STK10,upstream_gene_variant,,ENST00000522936,;STK10,upstream_gene_variant,,ENST00000517381,;STK10,upstream_gene_variant,,ENST00000518267,;	A	ENST00000176763	Transcript	synonymous_variant	842/6060	498/2907	166/968	T	acC/acT		1		-1	STK10	HGNC	HGNC:11388	protein_coding	YES	CCDS34290.1	ENSP00000176763	O94804		UPI0000136104	NM_005990.3			4/19		PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF195,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	172117503	172117503	G	A	1	0	0	0	0	0	0	0	1	15663	1219	43	3		3	STK10	5	172117503	Silent	SNP	G	C3N-02149_TP	1320031	172117503	9420756	176	30108											
DRD1	0	.	GRCh38	chr5	175441941	175441941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggatcaggtaaaccaGattgcactccttggagatgg	11	10	13	7	0	1	2	1	0	0	2	2	4	2	3	2	4	2	2	2	4	2	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1159C>A	p.Leu387Met	p.L387M	ENST00000393752	2/2	143	116	27	181	181	0	strelka-varscan-mutect	DRD1,missense_variant,p.Leu387Met,ENST00000393752,NM_000794.3;	T	ENST00000393752	Transcript	missense_variant	2152/4054	1159/1341	387/446	L/M	Ctg/Atg		1		-1	DRD1	HGNC	HGNC:3020	protein_coding	YES	CCDS4393.1	ENSP00000377353	P21728		UPI00000503F5	NM_000794.3	tolerated_low_confidence(0.16)		2/2		Prints_domain:PR00565																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	92	175441941	175441941	G	T	1	0	0	0	0	1	0	0	0	4575	933	33	2		2	DRD1	5	175441941	Missense_Mutation	SNP	G	C3N-02149_TP	3324438	175441941	6096318	177	30109											
ADAMTS2	0	.	GRCh38	chr5	179154901	179154901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcggaccggatggcacatgCcggtgacaggagcatagcct	9	6	15	11	3	0	1	0	1	0	0	0	4	0	4	3	5	4	2	3	5	1	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1151G>A	p.Gly384Asp	p.G384D	ENST00000251582	7/22	295	241	54	335	334	1	strelka-varscan-mutect	ADAMTS2,missense_variant,p.Gly384Asp,ENST00000251582,NM_014244.4;ADAMTS2,missense_variant,p.Gly384Asp,ENST00000274609,NM_021599.2;	T	ENST00000251582	Transcript	missense_variant	1253/6754	1151/3636	384/1211	G/D	gGc/gAc		1		-1	ADAMTS2	HGNC	HGNC:218	protein_coding	YES	CCDS4444.1	ENSP00000251582	O95450		UPI00001AE729	NM_014244.4	deleterious(0)		7/22		PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF141,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	179154901	179154901	C	T	1	0	0	0	0	1	0	0	0	309	739	26	3		3	ADAMTS2	5	179154901	Missense_Mutation	SNP	C	C3N-02149_TP	3712960	179154901	2383358	178	30110											
FLT4	0	.	GRCh38	chr5	180621718	180621718	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccagaggggtggcgaacAgatgcacgttcttgcagtcg	8	7	16	10	4	1	2	0	0	1	2	2	3	1	2	1	4	3	3	1	4	1	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1844T>C	p.Leu615Pro	p.L615P	ENST00000261937	13/30	153	137	16	217	217	0	strelka-varscan-mutect	FLT4,missense_variant,p.Leu615Pro,ENST00000261937,NM_182925.4;FLT4,missense_variant,p.Leu615Pro,ENST00000393347,NM_002020.4;FLT4,missense_variant,p.Leu615Pro,ENST00000502649,;FLT4,3_prime_UTR_variant,,ENST00000619105,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,non_coding_transcript_exon_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;	G	ENST00000261937	Transcript	missense_variant	1923/5857	1844/4092	615/1363	L/P	cTg/cCg		1		-1	FLT4	HGNC	HGNC:3767	protein_coding	YES	CCDS4457.1	ENSP00000261937	P35916		UPI00001488E7	NM_182925.4	deleterious(0.05)		13/30		PROSITE_profiles:PS50835,Pfam_domain:PF13927,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	180621718	180621718	A	G	1	0	0	0	0	1	0	0	0	5800	188	7	5		5	FLT4	5	180621718	Missense_Mutation	SNP	A	C3N-02149_TP	1466817	180621718	916541	179	30111											
POM121L2	0	.	GRCh38	chr6	27311264	27311264	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctagggactcaaaatctgAtaccagtgggactggagagg	12	8	13	8	0	2	2	1	1	1	1	3	5	3	4	2	4	1	0	2	4	4	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.907T>A	p.Ser303Thr	p.S303T	ENST00000444565	1/1	250	194	56	346	346	0	strelka-varscan-mutect	POM121L2,missense_variant,p.Ser303Thr,ENST00000444565,NM_033482.3;POM121L2,missense_variant,p.Ser17Thr,ENST00000429945,;	T	ENST00000444565	Transcript	missense_variant	907/3108	907/3108	303/1035	S/T	Tca/Aca		1		-1	POM121L2	HGNC	HGNC:13973	protein_coding	YES	CCDS59497.1	ENSP00000392726	Q96KW2		UPI0000198C27	NM_033482.3	tolerated(0.92)		1/1		Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	92	27311264	27311264	A	T	1	0	0	0	0	1	0	0	0	12353	333	12	4		4	POM121L2	6	27311264	Missense_Mutation	SNP	A	C3N-02149_TP		27311264	143494715	180	30112											
UHRF1BP1	0	.	GRCh38	chr6	34870935	34870935	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcgctttgaggtggggcctgGagcagctgttcattcccccc	4	11	13	13	1	1	1	1	1	0	0	3	2	2	2	4	4	2	4	4	4	0	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.3800G>C	p.Gly1267Ala	p.G1267A	ENST00000192788	18/21	341	308	33	485	485	0	strelka-varscan-mutect	UHRF1BP1,missense_variant,p.Gly1267Ala,ENST00000192788,NM_017754.3;UHRF1BP1,missense_variant,p.Gly1267Ala,ENST00000452449,;RNY3P15,upstream_gene_variant,,ENST00000516297,;	C	ENST00000192788	Transcript	missense_variant	3971/9570	3800/4323	1267/1440	G/A	gGa/gCa		1		1	UHRF1BP1	HGNC	HGNC:21216	protein_coding	YES	CCDS43455.1	ENSP00000192788	Q6BDS2		UPI00001B654C	NM_017754.3	tolerated(0.27)		18/21		hmmpanther:PTHR22774,hmmpanther:PTHR22774:SF15																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	34870935	34870935	G	C	1	0	0	0	0	1	0	0	0	17492	1174	41	4		4	UHRF1BP1	6	34870935	Missense_Mutation	SNP	G	C3N-02149_TP	7559671	34870935	135935044	181	30113											
BRPF3	0	.	GRCh38	chr6	36214234	36214234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctacagagaagcccagacaGggtcctggagaatggcgagg	12	4	16	9	1	0	3	0	0	0	3	1	6	1	3	2	4	2	1	2	4	3	1	rs745818310		C3N-02149_TP	C3N-02149_NB	G	G																c.2837G>T	p.Arg946Met	p.R946M	ENST00000357641	8/13	134	115	19	188	188	0	strelka-varscan-mutect	BRPF3,missense_variant,p.Arg946Met,ENST00000357641,NM_015695.2;BRPF3,missense_variant,p.Arg946Met,ENST00000534400,;BRPF3,intron_variant,,ENST00000339717,;BRPF3,intron_variant,,ENST00000534694,;BRPF3,missense_variant,p.Arg157Met,ENST00000441730,;BRPF3,3_prime_UTR_variant,,ENST00000441123,;BRPF3,3_prime_UTR_variant,,ENST00000532330,;BRPF3,intron_variant,,ENST00000449261,;BRPF3,downstream_gene_variant,,ENST00000532538,;	T	ENST00000357641	Transcript	missense_variant	3090/6052	2837/3618	946/1205	R/M	aGg/aTg	rs745818310	1		1	BRPF3	HGNC	HGNC:14256	protein_coding	YES	CCDS34437.1	ENSP00000350267	Q9ULD4		UPI00001C1E4C	NM_015695.2	tolerated(0.1)		8/13		hmmpanther:PTHR13793:SF19,hmmpanther:PTHR13793																	MODERATE	1	SNV	1			1										PASS		rs745818310	.												T	3	4	92	36214234	36214234	G	T	1	0	0	0	0	1	0	0	0	1695	1000	35	2		2	BRPF3	6	36214234	Missense_Mutation	SNP	G	C3N-02149_TP	1343299	36214234	134591745	182	30114											
SAYSD1	0	.	GRCh38	chr6	39115026	39115026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcgccctgactggcagcagGgggttgggccgccagacccg	5	5	17	14	3	0	2	0	1	0	1	0	2	0	2	4	4	2	3	4	4	0	1	rs745828598		C3N-02149_TP	C3N-02149_NB	G	G																c.64C>T	p.Pro22Ser	p.P22S	ENST00000229903	1/2	217	189	28	290	290	0	strelka-varscan-mutect	SAYSD1,missense_variant,p.Pro22Ser,ENST00000229903,NM_018322.2;SAYSD1,non_coding_transcript_exon_variant,,ENST00000481599,;ANKRD18EP,downstream_gene_variant,,ENST00000405487,;	A	ENST00000229903	Transcript	missense_variant	164/2020	64/552	22/183	P/S	Cct/Tct	rs745828598	1		-1	SAYSD1	HGNC	HGNC:21025	protein_coding	YES	CCDS4840.1	ENSP00000229903	Q9NPB0		UPI0000039E7F	NM_018322.2	tolerated(1)		1/2		Low_complexity_(Seg):seg,hmmpanther:PTHR13527,hmmpanther:PTHR13527:SF0																	MODERATE	1	SNV	1			1										PASS		rs745828598	.												A	3	1	92	39115026	39115026	G	A	1	0	0	0	0	1	0	0	0	14120	1232	43	3		3	SAYSD1	6	39115026	Missense_Mutation	SNP	G	C3N-02149_TP	2900792	39115026	131690953	183	30115											
KLHDC3	0	.	GRCh38	chr6	43018536	43018536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactccagtgctgcctgaggGgcgccggagccactcggcct	5	6	15	15	3	0	1	0	1	0	0	2	3	1	2	5	4	3	1	5	4	0	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.713G>A	p.Gly238Glu	p.G238E	ENST00000326974	6/11	426	348	78	500	500	0	strelka-varscan-mutect	KLHDC3,missense_variant,p.Gly238Glu,ENST00000326974,NM_057161.3;KLHDC3,missense_variant,p.Gly104Glu,ENST00000244670,;KLHDC3,missense_variant,p.Gly238Glu,ENST00000332245,;RRP36,upstream_gene_variant,,ENST00000244496,NM_033112.2;MEA1,upstream_gene_variant,,ENST00000244711,NM_014623.2;	A	ENST00000326974	Transcript	missense_variant	908/1909	713/1149	238/382	G/E	gGg/gAg		1		1	KLHDC3	HGNC	HGNC:20704	protein_coding	YES	CCDS4880.1	ENSP00000313995	Q9BQ90		UPI0000036176	NM_057161.3	deleterious(0)		6/11		Superfamily_domains:0052715,Gene3D:1zgkA00,hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF256																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	43018536	43018536	G	A	1	0	0	0	0	1	0	0	0	8222	1232	43	3		3	KLHDC3	6	43018536	Missense_Mutation	SNP	G	C3N-02149_TP	3903510	43018536	127787443	184	30116											
ZNF318	0	.	GRCh38	chr6	43369293	43369293	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccagagctgcggccgcTgcgcgggccgcccccgccgt	3	3	17	18	7	0	1	0	0	0	1	0	2	0	2	6	3	4	2	6	3	0	0	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.73A>T	p.Ser25Cys	p.S25C	ENST00000361428	1/10	49	43	6	54	54	0	strelka-varscan-mutect	ZNF318,missense_variant,p.Ser25Cys,ENST00000361428,NM_014345.2;ZNF318,missense_variant,p.Ser25Cys,ENST00000605935,;RP11-213N20.1,downstream_gene_variant,,ENST00000428602,;	A	ENST00000361428	Transcript	missense_variant	151/8006	73/6840	25/2279	S/C	Agc/Tgc		1		-1	ZNF318	HGNC	HGNC:13578	protein_coding	YES	CCDS4895.2	ENSP00000354964	Q5VUA4		UPI000049E044	NM_014345.2	tolerated_low_confidence(0.07)		1/10		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	43369293	43369293	T	A	1	0	0	0	0	1	0	0	0	18411	1580	55	4		4	ZNF318	6	43369293	Missense_Mutation	SNP	T	C3N-02149_TP	350757	43369293	127436686	185	30117											
HSP90AB1	0	.	GRCh38	chr6	44253556	44253556	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgatgagatcccccctctCgagggcgatgaggatgcgtc	7	8	13	13	3	1	3	0	3	1	1	4	7	2	4	4	2	1	0	4	2	0	0	rs147025760		C3N-02149_TP	C3N-02149_NB	C	C																c.2133C>T	p.=	p.L711L	ENST00000371554	12/12	172	161	11	238	234	4	varscan-mutect	HSP90AB1,synonymous_variant,p.=,ENST00000371554,;HSP90AB1,synonymous_variant,p.=,ENST00000620073,NM_001271970.1;HSP90AB1,synonymous_variant,p.=,ENST00000353801,NM_001271969.1;HSP90AB1,synonymous_variant,p.=,ENST00000371646,NM_001271971.1,NM_007355.3,NM_001271972.1;NFKBIE,downstream_gene_variant,,ENST00000275015,NM_004556.2;NFKBIE,downstream_gene_variant,,ENST00000619360,;SLC35B2,downstream_gene_variant,,ENST00000619636,NM_001286510.1,NM_001286512.1;SLC35B2,downstream_gene_variant,,ENST00000393812,NM_178148.3,NM_001286509.1;SLC35B2,downstream_gene_variant,,ENST00000615337,NM_001286511.1;SLC35B2,downstream_gene_variant,,ENST00000538577,NM_001286513.1;SLC35B2,downstream_gene_variant,,ENST00000393810,;SLC35B2,downstream_gene_variant,,ENST00000537814,NM_001286519.1,NM_001286520.1;SLC35B2,downstream_gene_variant,,ENST00000583964,;SLC35B2,downstream_gene_variant,,ENST00000495706,;	T	ENST00000371554	Transcript	synonymous_variant	2347/2674	2133/2175	711/724	L	ctC/ctT	rs147025760	1		1	HSP90AB1	HGNC	HGNC:5258	protein_coding	YES	CCDS4909.1	ENSP00000360609	P08238	A0A024RD80	UPI00001411EF				12/12		PIRSF_domain:PIRSF002583,hmmpanther:PTHR11528																	LOW		SNV	5			1										PASS		rs147025760	.												T	2	4	92	44253556	44253556	C	T	1	0	0	0	0	0	0	0	1	7298	871	31	1		1	HSP90AB1	6	44253556	Silent	SNP	C	C3N-02149_TP	884263	44253556	126552423	186	30118											
PGK2	0	.	GRCh38	chr6	49786058	49786058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatttggcacagcaagtaGcagtgtctccaccccctata	10	10	7	14	0	1	0	0	0	1	0	3	0	2	0	4	1	2	4	4	1	4	4	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1130C>A	p.Ala377Asp	p.A377D	ENST00000304801	1/1	378	330	48	490	490	0	strelka-varscan-mutect	PGK2,missense_variant,p.Ala377Asp,ENST00000304801,NM_138733.4;	T	ENST00000304801	Transcript	missense_variant	1250/1657	1130/1254	377/417	A/D	gCt/gAt		1		-1	PGK2	HGNC	HGNC:8898	protein_coding	YES	CCDS4930.1	ENSP00000305995	P07205	A0A140VJR3	UPI0000001C72	NM_138733.4	deleterious(0)		1/1		Gene3D:3.40.50.1270,HAMAP:MF_00145,Pfam_domain:PF00162,PIRSF_domain:PIRSF000724,Prints_domain:PR00477,hmmpanther:PTHR11406,hmmpanther:PTHR11406:SF10,Superfamily_domains:SSF53748																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	92	49786058	49786058	G	T	1	0	0	0	0	1	0	0	0	11880	971	34	2		2	PGK2	6	49786058	Missense_Mutation	SNP	G	C3N-02149_TP	5532502	49786058	121019921	187	30119											
TINAG	0	.	GRCh38	chr6	54308712	54308712	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaagagccattttccaaggGcaatactgtagaaattttgg	15	11	9	6	0	0	2	0	0	0	2	1	2	1	2	2	2	2	2	2	2	7	6	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.162G>C	p.=	p.G54G	ENST00000259782	1/11	412	388	24	491	491	0	strelka-varscan-mutect	TINAG,synonymous_variant,p.=,ENST00000259782,NM_014464.3;TINAG,synonymous_variant,p.=,ENST00000370869,;TINAG,synonymous_variant,p.=,ENST00000370864,;TINAG,non_coding_transcript_exon_variant,,ENST00000486436,;	C	ENST00000259782	Transcript	synonymous_variant	258/1754	162/1431	54/476	G	ggG/ggC		1		1	TINAG	HGNC	HGNC:14599	protein_coding	YES	CCDS4955.1	ENSP00000259782	Q9UJW2		UPI000013D078	NM_014464.3			1/11		hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF274																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	92	54308712	54308712	G	C	1	0	0	0	0	0	0	0	1	16362	1190	42	4		4	TINAG	6	54308712	Silent	SNP	G	C3N-02149_TP	4522654	54308712	116497267	188	30120											
EYS	0	.	GRCh38	chr6	64813378	64813378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtaaataaatactgacCtgcagtcaaaagtatgtcca	15	10	9	7	0	1	1	1	1	0	0	2	1	2	1	2	1	2	3	2	1	8	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.3443G>T	p.Arg1148Ile	p.R1148I	ENST00000370621	22/44	233	206	27	292	291	1	strelka-varscan-mutect	EYS,missense_variant,p.Arg1148Ile,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Arg1148Ile,ENST00000370621,NM_001292009.1;	A	ENST00000370621	Transcript	missense_variant,splice_region_variant	3970/10485	3443/9498	1148/3165	R/I	aGa/aTa		1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	tolerated(0.46)		22/44		Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1										PASS		rs1334016191	.												A	3	1	92	64813378	64813378	C	A	1	0	0	0	0	1	0	0	0	5200	695	24	2		2	EYS	6	64813378	Missense_Mutation	SNP	C	C3N-02149_TP	10504666	64813378	105992601	189	30121											
EYS	0	.	GRCh38	chr6	64886835	64886835	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcaggttcacaattacAaaaaaatctggagaaaagtg	18	9	8	6	0	3	1	2	0	1	1	3	2	3	1	0	2	2	2	0	2	8	3	rs779877426		C3N-02149_TP	C3N-02149_NB	A	A																c.2854T>A	p.Cys952Ser	p.C952S	ENST00000370621	19/44	253	228	25	359	359	0	strelka-varscan-mutect	EYS,missense_variant,p.Cys952Ser,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Cys952Ser,ENST00000370621,NM_001292009.1;	T	ENST00000370621	Transcript	missense_variant	3381/10485	2854/9498	952/3165	C/S	Tgt/Agt	rs779877426,COSM3160491	1		-1	EYS	HGNC	HGNC:21555	protein_coding	YES	CCDS78156.1	ENSP00000359655	Q5T1H1		UPI0001AE72B3	NM_001292009.1	deleterious(0)		19/44		Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_patterns:PS00010,PROSITE_patterns:PS00022,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												T	3	4	92	64886835	64886835	A	T	1	0	0	0	0	1	0	0	0	5200	130	5	4		4	EYS	6	64886835	Missense_Mutation	SNP	A	C3N-02149_TP	73457	64886835	105919144	190	30122											
HTR1E	0	.	GRCh38	chr6	87016051	87016051	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaagttgtaaacttacAcagactttctgtgtgtctga	10	16	8	7	0	2	2	0	1	2	1	2	2	2	2	0	0	3	3	0	0	4	5	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.717A>T	p.=	p.T239T	ENST00000305344	2/2	207	175	32	373	373	0	strelka-varscan-mutect	HTR1E,synonymous_variant,p.=,ENST00000305344,NM_000865.2;	T	ENST00000305344	Transcript	synonymous_variant	1420/2052	717/1098	239/365	T	acA/acT		1		1	HTR1E	HGNC	HGNC:5291	protein_coding	YES	CCDS5006.1	ENSP00000307766	P28566		UPI000000126D	NM_000865.2			2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF33,Pfam_domain:PF00001,SMART_domains:SM01381																	LOW	1	SNV	1			1										PASS		rs1385836989	.												T	2	4	92	87016051	87016051	A	T	1	0	0	0	0	0	0	0	1	7335	146	6	4		4	HTR1E	6	87016051	Silent	SNP	A	C3N-02149_TP	22129216	87016051	83789928	191	30123											
HTR1E	0	.	GRCh38	chr6	87016392	87016392	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaatgaagactttaagcTggcttttaaaaagctcatta	14	16	6	5	0	1	2	1	1	0	1	1	2	1	2	0	1	2	3	0	1	7	7	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1058T>G	p.Leu353Arg	p.L353R	ENST00000305344	2/2	71	63	8	100	100	0	strelka-varscan-mutect	HTR1E,missense_variant,p.Leu353Arg,ENST00000305344,NM_000865.2;	G	ENST00000305344	Transcript	missense_variant	1761/2052	1058/1098	353/365	L/R	cTg/cGg		1		1	HTR1E	HGNC	HGNC:5291	protein_coding	YES	CCDS5006.1	ENSP00000307766	P28566		UPI000000126D	NM_000865.2	tolerated(0.46)		2/2		hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF33,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	87016392	87016392	T	G	1	0	0	0	0	1	0	0	0	7335	1580	55	5		5	HTR1E	6	87016392	Missense_Mutation	SNP	T	C3N-02149_TP	341	87016392	83789587	192	30124											
GABRR1	0	.	GRCh38	chr6	89181996	89181996	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtagcggggaaataagtttgGagcaagaagaagaagatgtg	16	7	16	2	1	0	4	0	0	0	4	0	6	0	6	0	3	2	3	0	3	7	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.858C>T	p.=	p.L286L	ENST00000454853	8/10	205	194	11	306	306	0	strelka-varscan	GABRR1,synonymous_variant,p.=,ENST00000611484,NM_001256704.1;GABRR1,synonymous_variant,p.=,ENST00000435811,NM_001256703.1;GABRR1,synonymous_variant,p.=,ENST00000621627,;GABRR1,synonymous_variant,p.=,ENST00000454853,NM_002042.4;GABRR1,synonymous_variant,p.=,ENST00000369451,NM_001267582.1;GABRR1,3_prime_UTR_variant,,ENST00000457434,;	A	ENST00000454853	Transcript	synonymous_variant	969/2820	858/1440	286/479	L	ctC/ctT		1		-1	GABRR1	HGNC	HGNC:4090	protein_coding	YES	CCDS5019.2	ENSP00000412673	P24046		UPI0000D4AF7D	NM_002042.4			8/10		Gene3D:1.20.58.390,Prints_domain:PR00252,Prints_domain:PR00253,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF30,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	89181996	89181996	G	A	1	0	0	0	0	0	0	0	1	6047	1161	41	3		3	GABRR1	6	89181996	Silent	SNP	G	C3N-02149_TP	2165604	89181996	81623983	193	30125											
GPR6	0	.	GRCh38	chr6	109979238	109979238	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggaccccctgctgcggcGgctctaggagccggcggcgg	3	5	19	14	5	1	0	0	0	1	0	1	2	1	2	3	8	3	2	3	8	1	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.171G>T	p.=	p.A57A	ENST00000414000	3/3	250	195	55	351	351	0	strelka-varscan-mutect	GPR6,synonymous_variant,p.=,ENST00000414000,NM_001286099.1;GPR6,synonymous_variant,p.=,ENST00000275169,NM_005284.4;	T	ENST00000414000	Transcript	synonymous_variant	465/1945	171/1134	57/377	A	gcG/gcT		1		1	GPR6	HGNC	HGNC:4515	protein_coding	YES	CCDS69172.1	ENSP00000406986	P46095		UPI0001AE72E0	NM_001286099.1			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22750:SF19,hmmpanther:PTHR22750,Prints_domain:PR00649																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	92	109979238	109979238	G	T	1	0	0	0	0	0	0	0	1	6585	1103	39	1		1	GPR6	6	109979238	Silent	SNP	G	C3N-02149_TP	20797242	109979238	60826741	194	30126											
LAMA2	0	.	GRCh38	chr6	129252196	129252196	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaccatacatggcacacAttttccagtccgtagaaagg	13	11	7	10	1	0	1	0	0	0	1	2	1	2	1	3	2	2	2	3	2	4	6	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1997A>G	p.His666Arg	p.H666R	ENST00000421865	14/65	548	462	86	697	696	1	strelka-varscan-mutect	LAMA2,missense_variant,p.His666Arg,ENST00000618192,;LAMA2,missense_variant,p.His666Arg,ENST00000617695,;LAMA2,missense_variant,p.His666Arg,ENST00000421865,NM_001079823.1,NM_000426.3;	G	ENST00000421865	Transcript	missense_variant	2046/9640	1997/9369	666/3122	H/R	cAt/cGt		1		1	LAMA2	HGNC	HGNC:6482	protein_coding	YES	CCDS5138.1	ENSP00000400365	P24043		UPI00003673E0	NM_001079823.1,NM_000426.3	tolerated(0.36)		14/65		Pfam_domain:PF00052,PROSITE_profiles:PS51115,SMART_domains:SM00281																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	92	129252196	129252196	A	G	1	0	0	0	0	1	0	0	0	8510	217	8	5		5	LAMA2	6	129252196	Missense_Mutation	SNP	A	C3N-02149_TP	19272958	129252196	41553783	195	30127											
EPB41L2	0	.	GRCh38	chr6	130901056	130901056	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcgatgctgccatgttCttctgggtcatagtcaccaa	8	12	11	10	1	4	0	2	0	2	0	5	2	4	0	2	2	2	2	2	2	2	3	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1054G>T	p.Glu352Ter	p.E352*	ENST00000337057	7/20	310	261	49	443	442	1	strelka-varscan-mutect	EPB41L2,stop_gained,p.Glu352Ter,ENST00000337057,NM_001431.3;EPB41L2,stop_gained,p.Glu352Ter,ENST00000368128,;EPB41L2,stop_gained,p.Glu352Ter,ENST00000628542,;EPB41L2,stop_gained,p.Glu352Ter,ENST00000527411,;EPB41L2,stop_gained,p.Glu352Ter,ENST00000530481,NM_001199388.2;EPB41L2,stop_gained,p.Glu352Ter,ENST00000445890,;EPB41L2,stop_gained,p.Glu352Ter,ENST00000528282,NM_001252660.1;EPB41L2,stop_gained,p.Glu352Ter,ENST00000392427,NM_001135554.1,NM_001135555.3;EPB41L2,stop_gained,p.Glu352Ter,ENST00000529208,;EPB41L2,stop_gained,p.Glu352Ter,ENST00000525271,;EPB41L2,stop_gained,p.Glu352Ter,ENST00000527659,;EPB41L2,stop_gained,p.Glu352Ter,ENST00000525193,;EPB41L2,non_coding_transcript_exon_variant,,ENST00000530148,;EPB41L2,non_coding_transcript_exon_variant,,ENST00000528179,;EPB41L2,non_coding_transcript_exon_variant,,ENST00000526333,;	A	ENST00000337057	Transcript	stop_gained	1236/4457	1054/3018	352/1005	E/*	Gaa/Taa		1		-1	EPB41L2	HGNC	HGNC:3379	protein_coding	YES	CCDS5141.1	ENSP00000338481	O43491		UPI0000129AF9	NM_001431.3			7/20		Gene3D:1.20.80.10,Pfam_domain:PF00373,PIRSF_domain:PIRSF002304,PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF17,SMART_domains:SM00295,Superfamily_domains:SSF47031																	HIGH	1	SNV	1			1										PASS		rs1467591047	.												A	4	1	92	130901056	130901056	C	A	1	0	0	0	0	0	1	0	0	5000	922	32	2		2	EPB41L2	6	130901056	Nonsense_Mutation	SNP	C	C3N-02149_TP	1648860	130901056	39904923	196	30128											
TAAR5	0	.	GRCh38	chr6	132588963	132588963	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcatgcttggcagcccCagccaggcttttgctcaatg	6	12	9	14	0	3	0	2	0	1	0	4	0	3	0	3	2	4	4	3	2	1	3	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.724G>T	p.Gly242Trp	p.G242W	ENST00000258034	1/1	203	185	18	250	250	0	strelka-varscan-mutect	TAAR5,missense_variant,p.Gly242Trp,ENST00000258034,NM_003967.2;	A	ENST00000258034	Transcript	missense_variant	724/1014	724/1014	242/337	G/W	Ggg/Tgg		1		-1	TAAR5	HGNC	HGNC:30236	protein_coding	YES	CCDS5156.1	ENSP00000258034	O14804		UPI000013CFAA	NM_003967.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF78,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	92	132588963	132588963	C	A	1	0	0	0	0	1	0	0	0	15887	594	21	2		2	TAAR5	6	132588963	Missense_Mutation	SNP	C	C3N-02149_TP	1687907	132588963	38217016	197	30129											
SLC35D3	0	.	GRCh38	chr6	136924110	136924110	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttcccgggctggaaggAcccggccatggtctgcatct	6	8	13	14	2	2	0	0	0	2	0	3	3	3	2	4	5	1	2	4	5	1	1	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.665A>T	p.Asp222Val	p.D222V	ENST00000331858	2/2	198	184	14	263	261	2	strelka-varscan-mutect	SLC35D3,missense_variant,p.Asp222Val,ENST00000331858,NM_001008783.2;	T	ENST00000331858	Transcript	missense_variant	830/2359	665/1251	222/416	D/V	gAc/gTc		1		1	SLC35D3	HGNC	HGNC:15621	protein_coding	YES	CCDS34544.1	ENSP00000333591	Q5M8T2		UPI00003673E9	NM_001008783.2	deleterious(0)		2/2		hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF62																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	136924110	136924110	A	T	1	0	0	0	0	1	0	0	0	14853	275	10	4		4	SLC35D3	6	136924110	Missense_Mutation	SNP	A	C3N-02149_TP	4335147	136924110	33881869	198	30130											
CITED2	0	.	GRCh38	chr6	139373434	139373434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgggggtgctgctgccgcCcgagccgccgggggtgctgc	1	5	20	15	5	0	0	0	0	0	0	0	1	0	0	5	4	6	3	5	4	0	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.526G>T	p.Gly176Cys	p.G176C	ENST00000537332	2/2	24	16	8	142	141	1	strelka-varscan-mutect	CITED2,missense_variant,p.Gly171Cys,ENST00000367651,NM_006079.4;CITED2,missense_variant,p.Gly171Cys,ENST00000536159,NM_001168388.2;CITED2,missense_variant,p.Gly176Cys,ENST00000537332,NM_001168389.2;CITED2,intron_variant,,ENST00000618718,;	A	ENST00000537332	Transcript	missense_variant	601/1780	526/828	176/275	G/C	Ggc/Tgc		1		-1	CITED2	HGNC	HGNC:1987	protein_coding	YES	CCDS75530.1	ENSP00000444198		A0A0A0MTM3	UPI000264F4A0	NM_001168389.2	deleterious(0)		2/2		Low_complexity_(Seg):seg,Pfam_domain:PF04487																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	92	139373434	139373434	C	A	1	0	0	0	0	1	0	0	0	3203	623	22	2		2	CITED2	6	139373434	Missense_Mutation	SNP	C	C3N-02149_TP	2449324	139373434	31432545	199	30131											
HIVEP2	0	.	GRCh38	chr6	142773388	142773388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccattatgcccttcctacCcattgcggcacgctcctgac	6	12	6	17	2	0	1	0	1	0	0	3	1	3	1	5	1	3	2	5	1	2	5	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1351G>T	p.Gly451Cys	p.G451C	ENST00000367603	5/10	390	364	26	534	533	1	strelka-varscan-mutect	HIVEP2,missense_variant,p.Gly451Cys,ENST00000367603,NM_006734.3;HIVEP2,missense_variant,p.Gly451Cys,ENST00000367604,;HIVEP2,missense_variant,p.Gly451Cys,ENST00000012134,;	A	ENST00000367603	Transcript	missense_variant	2094/9723	1351/7341	451/2446	G/C	Ggt/Tgt		1		-1	HIVEP2	HGNC	HGNC:4921	protein_coding	YES	CCDS43510.1	ENSP00000356575	P31629		UPI00004708DD	NM_006734.3	deleterious(0)		5/10		hmmpanther:PTHR23233:SF53,hmmpanther:PTHR23233																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	142773388	142773388	C	A	1	0	0	0	0	1	0	0	0	7076	623	22	2		2	HIVEP2	6	142773388	Missense_Mutation	SNP	C	C3N-02149_TP	3399954	142773388	28032591	200	30132											
STXBP5	0	.	GRCh38	chr6	147267089	147267089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcttttatcacagcttttGattggctttgaatctggaac	8	19	7	7	0	3	2	1	2	2	0	3	3	3	3	0	2	2	2	0	2	3	7	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.636G>A	p.=	p.L212L	ENST00000321680	7/28	239	219	20	372	372	0	strelka-varscan-mutect	STXBP5,synonymous_variant,p.=,ENST00000367481,NM_139244.4;STXBP5,synonymous_variant,p.=,ENST00000321680,NM_001127715.2;STXBP5,synonymous_variant,p.=,ENST00000367480,;STXBP5,synonymous_variant,p.=,ENST00000546097,;	A	ENST00000321680	Transcript	synonymous_variant	636/3456	636/3456	212/1151	L	ttG/ttA		1		1	STXBP5	HGNC	HGNC:19665	protein_coding	YES	CCDS47499.1	ENSP00000321826	Q5T5C0		UPI0000199FE0	NM_001127715.2			7/28		hmmpanther:PTHR10241:SF22,hmmpanther:PTHR10241,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	92	147267089	147267089	G	A	1	0	0	0	0	0	0	0	1	15740	1304	45	3		3	STXBP5	6	147267089	Silent	SNP	G	C3N-02149_TP	4493701	147267089	23538890	201	30133											
ARID1B	0	.	GRCh38	chr6	157184365	157184365	+	Frame_Shift_Del	DEL	G	G	-																															tgcaagatcgaacgtggggaGgagcccccgccggaagtctt																								novel		C3N-02149_TP	C3N-02149_NB	G	G																c.3481delG	p.Glu1161SerfsTer50	p.E1161Sfs*50	ENST00000346085	13/20	396	355	41	543	543	0	sindel-varindel-pindel	ARID1B,frameshift_variant,p.Glu1161SerfsTer50,ENST00000346085,NM_020732.3;ARID1B,frameshift_variant,p.Glu1201SerfsTer50,ENST00000636930,;ARID1B,frameshift_variant,p.Glu1148SerfsTer50,ENST00000350026,NM_017519.2;ARID1B,frameshift_variant,p.Glu670SerfsTer50,ENST00000414678,;ARID1B,frameshift_variant,p.Glu451SerfsTer50,ENST00000637904,;ARID1B,frameshift_variant,p.Glu391SerfsTer50,ENST00000635849,;ARID1B,frameshift_variant,p.Glu407SerfsTer50,ENST00000637015,;ARID1B,frameshift_variant,p.Glu398SerfsTer50,ENST00000637810,;ARID1B,frameshift_variant,p.Glu269SerfsTer50,ENST00000635957,;ARID1B,frameshift_variant,p.Glu215SerfsTer82,ENST00000400790,;ARID1B,frameshift_variant,p.Glu622SerfsTer24,ENST00000319584,;ARID1B,non_coding_transcript_exon_variant,,ENST00000637741,;ARID1B,3_prime_UTR_variant,,ENST00000637568,;ARID1B,non_coding_transcript_exon_variant,,ENST00000636940,;ARID1B,downstream_gene_variant,,ENST00000478761,;	-	ENST00000346085	Transcript	frameshift_variant	4036/10194	3480/6750	1160/2249	E/X	gaG/ga		1		1	ARID1B	HGNC	HGNC:18040	protein_coding	YES	CCDS55072.1	ENSP00000344546	Q8NFD5		UPI000058E4B2	NM_020732.3			13/20		hmmpanther:PTHR12656:SF11,hmmpanther:PTHR12656,Gene3D:1.10.150.60,Superfamily_domains:SSF46774																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	92	157184365	157184365	G	-	1	0	1	0	1	0	0	0	0	1050	991	35	0		0	ARID1B	6	157184365	Frame_Shift_Del	DEL	G	C3N-02149_TP	9917276	157184365	13621614	202	30134											
AGPAT4	0	.	GRCh38	chr6	161154309	161154309	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttggccaggaccttggagCcctgaaacagaagaaggagc	12	6	13	10	0	1	3	0	1	1	2	1	6	1	6	3	4	3	0	3	4	3	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.350G>T	p.Gly117Val	p.G117V	ENST00000320285	4/9	202	152	50	240	240	0	strelka-varscan-mutect	AGPAT4,missense_variant,p.Gly117Val,ENST00000320285,NM_020133.2;AGPAT4,splice_region_variant,p.=,ENST00000366911,;AGPAT4,splice_region_variant,,ENST00000436279,;	A	ENST00000320285	Transcript	missense_variant,splice_region_variant	563/7865	350/1137	117/378	G/V	gGc/gTc		1		-1	AGPAT4	HGNC	HGNC:20885	protein_coding	YES	CCDS5280.1	ENSP00000314036	Q9NRZ5		UPI0000035BB6	NM_020133.2	deleterious(0.04)		4/9		hmmpanther:PTHR10983,hmmpanther:PTHR10983:SF8,Pfam_domain:PF01553,SMART_domains:SM00563,Superfamily_domains:0039877																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	161154309	161154309	C	A	1	0	0	0	0	1	0	0	0	471	753	26	2		2	AGPAT4	6	161154309	Missense_Mutation	SNP	C	C3N-02149_TP	3969944	161154309	9651670	203	30135											
C6orf118	0	.	GRCh38	chr6	165302028	165302028	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctcgccaccttccctgcGggcggctctcccacctcaga	5	8	8	20	3	2	1	1	0	1	1	6	1	4	1	6	2	1	1	6	2	0	1	rs146166260		C3N-02149_TP	C3N-02149_NB	G	G																c.294C>G	p.=	p.P98P	ENST00000230301	2/9	171	140	31	220	220	0	strelka-varscan-mutect	C6orf118,synonymous_variant,p.=,ENST00000230301,NM_144980.3;	C	ENST00000230301	Transcript	synonymous_variant	315/1812	294/1410	98/469	P	ccC/ccG	rs146166260,COSM5580456	1		-1	C6orf118	HGNC	HGNC:21233	protein_coding	YES	CCDS5288.1	ENSP00000230301	Q5T5N4		UPI0000367401	NM_144980.3			2/9		hmmpanther:PTHR34916											0,1						LOW	1	SNV	1		0,1	1										PASS		rs146166260	.												C	2	2	92	165302028	165302028	G	C	1	0	0	0	0	0	0	0	1	2115	1103	39	4		4	C6orf118	6	165302028	Silent	SNP	G	C3N-02149_TP	4147719	165302028	5503951	204	30136											
FAM20C	0	.	GRCh38	chr7	256028	256028	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacaagcgcaagaaggccGagtgagtgcggggccggggg	10	2	19	10	4	0	2	0	1	0	1	0	3	0	2	3	5	2	1	3	5	3	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1252G>T	p.Glu418Ter	p.E418*	ENST00000313766	6/10	190	162	28	149	149	0	strelka-varscan-mutect	FAM20C,stop_gained,p.Glu418Ter,ENST00000313766,NM_020223.3;FAM20C,splice_region_variant,,ENST00000515795,;FAM20C,upstream_gene_variant,,ENST00000512382,;	T	ENST00000313766	Transcript	stop_gained,splice_region_variant	1483/2751	1252/1755	418/584	E/*	Gag/Tag		1		1	FAM20C	HGNC	HGNC:22140	protein_coding	YES	CCDS47522.1	ENSP00000322323	Q8IXL6		UPI00001B5C04	NM_020223.3			6/10		Pfam_domain:PF06702,hmmpanther:PTHR12450,hmmpanther:PTHR12450:SF11																	HIGH	1	SNV	1			1										PASS		rs1157345537	.												T	4	4	92	256028	256028	G	T	1	0	0	0	0	0	1	0	0	5395	1072	37	1		1	FAM20C	7	256028	Nonsense_Mutation	SNP	G	C3N-02149_TP		256028	159089945	205	30137											
DAGLB	0	.	GRCh38	chr7	6426009	6426009	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgtcatggaagctgacgtgGatgaagtccctgtactgcag	9	11	13	8	1	1	2	1	2	0	0	2	4	2	4	1	2	3	3	1	2	3	2	rs140347773		C3N-02149_TP	C3N-02149_NB	G	G																c.1035C>T	p.=	p.I345I	ENST00000297056	7/15	306	258	48	302	302	0	strelka-varscan-mutect	DAGLB,synonymous_variant,p.=,ENST00000297056,NM_139179.3;DAGLB,synonymous_variant,p.=,ENST00000436575,;DAGLB,synonymous_variant,p.=,ENST00000425398,NM_001142936.1;DAGLB,downstream_gene_variant,,ENST00000432248,;DAGLB,missense_variant,p.Ser159Phe,ENST00000454738,;DAGLB,upstream_gene_variant,,ENST00000462934,;	A	ENST00000297056	Transcript	synonymous_variant	1205/2897	1035/2019	345/672	I	atC/atT	rs140347773	1		-1	DAGLB	HGNC	HGNC:28923	protein_coding	YES	CCDS5350.1	ENSP00000297056	Q8NCG7		UPI000006E01F	NM_139179.3			7/15		hmmpanther:PTHR21493:SF87,hmmpanther:PTHR21493,Superfamily_domains:SSF53474																	LOW	1	SNV	1			1										PASS		rs140347773	.												A	2	1	92	6426009	6426009	G	A	1	0	0	0	0	0	0	0	1	4029	1164	41	3		3	DAGLB	7	6426009	Silent	SNP	G	C3N-02149_TP	6169981	6426009	152919964	206	30138											
C1GALT1	0	.	GRCh38	chr7	7238402	7238402	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagtgttgtttatgagttCagaagaaaataaagacttcc	16	12	8	5	0	1	4	1	1	0	3	2	4	2	4	1	0	0	3	1	0	7	6			C3N-02149_TP	C3N-02149_NB	C	C																c.368C>G	p.Ser123Ter	p.S123*	ENST00000436587	3/4	334	278	56	374	374	0	strelka-varscan-mutect	C1GALT1,stop_gained,p.Ser123Ter,ENST00000436587,NM_020156.4;C1GALT1,stop_gained,p.Ser123Ter,ENST00000223122,;C1GALT1,stop_gained,p.Ser123Ter,ENST00000402468,;C1GALT1,stop_gained,p.Ser123Ter,ENST00000429911,;C1GALT1,downstream_gene_variant,,ENST00000419721,;C1GALT1,downstream_gene_variant,,ENST00000476068,;	G	ENST00000436587	Transcript	stop_gained	591/6235	368/1092	123/363	S/*	tCa/tGa	COSM332140	1		1	C1GALT1	HGNC	HGNC:24337	protein_coding	YES	CCDS5355.1	ENSP00000389176	Q9NS00	A0A024RA32	UPI000003DC31	NM_020156.4			3/4		Pfam_domain:PF02434,hmmpanther:PTHR23033,hmmpanther:PTHR23033:SF13											1						HIGH	1	SNV	5		1	1										PASS		.	.												G	4	3	92	7238402	7238402	C	G	1	0	0	0	0	0	1	0	0	1929	838	29	4		4	C1GALT1	7	7238402	Nonsense_Mutation	SNP	C	C3N-02149_TP	812393	7238402	152107571	207	30139											
THSD7A	0	.	GRCh38	chr7	11593407	11593407	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatgtcatggcatgtttttGagcaggggctccactctgac	7	12	11	11	0	2	2	1	2	1	0	3	2	3	2	2	3	1	4	2	3	0	2			C3N-02149_TP	C3N-02149_NB	G	G																c.1118C>G	p.Ser373Ter	p.S373*	ENST00000423059	3/28	450	415	35	426	426	0	strelka-varscan-mutect	THSD7A,stop_gained,p.Ser373Ter,ENST00000423059,NM_015204.2;THSD7A,stop_gained,p.Ser373Ter,ENST00000617773,;	C	ENST00000423059	Transcript	stop_gained	1370/10663	1118/4974	373/1657	S/*	tCa/tGa	COSM5196365	1		-1	THSD7A	HGNC	HGNC:22207	protein_coding	YES	CCDS47543.1	ENSP00000406482	Q9UPZ6		UPI00006C0B74	NM_015204.2			3/28		PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895											1						HIGH	1	SNV	5		1	1										PASS		.	.												C	4	2	92	11593407	11593407	G	C	1	0	0	0	0	0	1	0	0	16313	1294	45	4		4	THSD7A	7	11593407	Nonsense_Mutation	SNP	G	C3N-02149_TP	4355005	11593407	147752566	208	30140											
SP8	0	.	GRCh38	chr7	20785084	20785084	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcgagccgggcagcgcagCcgcgctgttcgggttctgca	5	6	16	14	6	1	0	0	0	1	0	2	1	1	0	2	2	5	6	2	2	0	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.733G>T	p.Ala245Ser	p.A245S	ENST00000418710	2/2	164	129	35	183	183	0	strelka-varscan-mutect	SP8,missense_variant,p.Ala203Ser,ENST00000617581,;SP8,missense_variant,p.Ala227Ser,ENST00000361443,NM_198956.3;SP8,missense_variant,p.Ala245Ser,ENST00000418710,NM_182700.5;	A	ENST00000418710	Transcript	missense_variant	821/1618	733/1527	245/508	A/S	Gct/Tct		1		-1	SP8	HGNC	HGNC:19196	protein_coding	YES	CCDS43555.1	ENSP00000408792	Q8IXZ3		UPI00001AADF2	NM_182700.5	tolerated(0.18)		2/2																			MODERATE	1	SNV	1			1										PASS		rs1480117950	.												A	3	1	92	20785084	20785084	C	A	1	0	0	0	0	1	0	0	0	15296	739	26	2		2	SP8	7	20785084	Missense_Mutation	SNP	C	C3N-02149_TP	9191677	20785084	138560889	209	30141											
DNAH11	0	.	GRCh38	chr7	21784435	21784435	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttaattaggtgacagcCattcagactgaagtgttcca	11	13	8	9	0	2	3	1	2	1	1	3	3	3	3	2	1	1	1	2	1	3	5	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.9492C>A	p.=	p.A3164A	ENST00000409508	58/82	209	173	36	289	289	0	strelka-varscan-mutect	DNAH11,synonymous_variant,p.=,ENST00000409508,NM_001277115.1;DNAH11,synonymous_variant,p.=,ENST00000328843,;DNAH11,synonymous_variant,p.=,ENST00000620169,;	A	ENST00000409508	Transcript	synonymous_variant	9523/14167	9492/13551	3164/4516	A	gcC/gcA		1		1	DNAH11	HGNC	HGNC:2942	protein_coding	YES	CCDS64602.1	ENSP00000475939	Q96DT5		UPI0002B8CE70	NM_001277115.1			58/82		hmmpanther:PTHR10676:SF263,hmmpanther:PTHR10676,Pfam_domain:PF12777																	LOW	1	SNV	5			1										PASS		rs1209904480	.												A	2	1	92	21784435	21784435	C	A	1	0	0	0	0	0	0	0	1	4413	581	21	2		2	DNAH11	7	21784435	Silent	SNP	C	C3N-02149_TP	999351	21784435	137561538	210	30142											
OSBPL3	0	.	GRCh38	chr7	24834655	24834655	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatgttccacaggctgAtgttactgctgctcgggcag	7	11	13	10	1	1	1	1	1	0	0	3	2	2	2	1	3	3	6	1	3	1	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1577T>G	p.Ile526Ser	p.I526S	ENST00000313367	15/23	264	242	22	235	235	0	strelka-varscan-mutect	OSBPL3,missense_variant,p.Ile526Ser,ENST00000313367,NM_015550.3;OSBPL3,missense_variant,p.Ile495Ser,ENST00000396431,NM_145320.2;OSBPL3,missense_variant,p.Ile490Ser,ENST00000396429,NM_145321.2;OSBPL3,missense_variant,p.Ile459Ser,ENST00000409069,NM_145322.2;OSBPL3,missense_variant,p.Ile495Ser,ENST00000409863,;OSBPL3,missense_variant,p.Ile526Ser,ENST00000409452,;OSBPL3,missense_variant,p.Ile490Ser,ENST00000409759,;OSBPL3,missense_variant,p.Ile459Ser,ENST00000409555,;	C	ENST00000313367	Transcript	missense_variant	2029/6760	1577/2664	526/887	I/S	aTc/aGc		1		-1	OSBPL3	HGNC	HGNC:16370	protein_coding	YES	CCDS5390.1	ENSP00000315410	Q9H4L5		UPI0000001244	NM_015550.3	deleterious(0)		15/23		Superfamily_domains:0051579,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF15																	MODERATE	1	SNV	1			1										PASS		rs1351211994	.												C	3	2	92	24834655	24834655	A	C	1	0	0	0	0	1	0	0	0	11345	333	12	5		5	OSBPL3	7	24834655	Missense_Mutation	SNP	A	C3N-02149_TP	3050220	24834655	134511318	211	30143											
HOXA4	0	.	GRCh38	chr7	27129234	27129234	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctagaagattatatggaGgagggaacgggtgtggaggt	11	10	17	3	1	1	2	0	0	1	2	2	6	1	6	0	6	1	0	0	6	5	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.954C>A	p.=	p.S318S	ENST00000360046	2/2	265	213	52	269	269	0	strelka-varscan-mutect	HOXA4,synonymous_variant,p.=,ENST00000360046,;HOXA4,synonymous_variant,p.=,ENST00000610970,NM_002141.4;HOXA4,synonymous_variant,p.=,ENST00000428284,;HOXA4,synonymous_variant,p.=,ENST00000511914,;HOXA3,intron_variant,,ENST00000317201,;HOXA3,intron_variant,,ENST00000522788,;HOXA3,upstream_gene_variant,,ENST00000612286,NM_153631.2;HOXA-AS2,intron_variant,,ENST00000521159,;HOXA-AS2,downstream_gene_variant,,ENST00000517550,;HOXA-AS2,downstream_gene_variant,,ENST00000521687,;HOXA-AS3,upstream_gene_variant,,ENST00000518848,;HOXA-AS2,downstream_gene_variant,,ENST00000524048,;RP1-170O19.22,non_coding_transcript_exon_variant,,ENST00000467897,;HOXA3,intron_variant,,ENST00000521401,;HOXA3,intron_variant,,ENST00000518451,;	T	ENST00000360046	Transcript	synonymous_variant	1020/1747	954/963	318/320	S	tcC/tcA		1		-1	HOXA4	HGNC	HGNC:5105	protein_coding	YES	CCDS5405.1	ENSP00000353151	Q00056		UPI000013C810				2/2		Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	92	27129234	27129234	G	T	1	0	0	0	0	0	0	0	1	7188	987	35	2		2	HOXA4	7	27129234	Silent	SNP	G	C3N-02149_TP	2294579	27129234	132216739	212	30144											
TRIL	0	.	GRCh38	chr7	28957592	28957592	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactagactctccaggcccTcgaaggagccgcggcttagg	8	7	13	13	3	1	2	0	1	1	1	3	4	1	3	3	4	1	1	3	4	3	2	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.455A>T	p.Glu152Val	p.E152V	ENST00000539664	1/1	368	318	50	345	344	1	strelka-varscan-mutect	TRIL,missense_variant,p.Glu152Val,ENST00000539664,NM_014817.3;AC005013.5,upstream_gene_variant,,ENST00000436594,;	A	ENST00000539664	Transcript	missense_variant	701/4935	455/2436	152/811	E/V	gAg/gTg		1		-1	TRIL	HGNC	HGNC:22200	protein_coding	YES	CCDS75573.1	ENSP00000479256	Q7L0X0		UPI00005C3DAC	NM_014817.3	tolerated(0.3)		1/1		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF263,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE		SNV				1										PASS		.	.												A	3	1	92	28957592	28957592	T	A	1	0	0	0	0	1	0	0	0	16974	1551	54	4		4	TRIL	7	28957592	Missense_Mutation	SNP	T	C3N-02149_TP	1828358	28957592	130388381	213	30145											
NEUROD6	0	.	GRCh38	chr7	31339042	31339042	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttcctaagacccctcCttctaggcaacccattttca	8	16	3	14	0	2	1	1	0	1	1	4	1	4	1	5	1	1	1	5	1	3	8	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.227G>T	p.Arg76Met	p.R76M	ENST00000297142	2/2	524	453	71	618	618	0	strelka-varscan-mutect	NEUROD6,missense_variant,p.Arg76Met,ENST00000297142,NM_022728.3;	A	ENST00000297142	Transcript	missense_variant	550/2131	227/1014	76/337	R/M	aGg/aTg		1		-1	NEUROD6	HGNC	HGNC:13804	protein_coding	YES	CCDS5434.1	ENSP00000297142	Q96NK8	A0A090N7T3	UPI000000D77D	NM_022728.3	deleterious(0)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR19290:SF9,hmmpanther:PTHR19290,PIRSF_domain:PIRSF015618																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	31339042	31339042	C	A	1	0	0	0	0	1	0	0	0	10388	681	24	2		2	NEUROD6	7	31339042	Missense_Mutation	SNP	C	C3N-02149_TP	2381450	31339042	128006931	214	30146											
INHBA	0	.	GRCh38	chr7	41689683	41689683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcctccacgatcatgttCtgaatgtcctttttgatgat	8	16	6	11	1	2	3	1	3	1	0	5	4	5	3	3	0	0	1	3	0	1	3			C3N-02149_TP	C3N-02149_NB	C	C																c.1248G>T	p.Gln416His	p.Q416H	ENST00000242208	3/3	81	62	19	60	59	1	strelka-varscan-mutect	INHBA,missense_variant,p.Gln416His,ENST00000242208,NM_002192.2;INHBA,missense_variant,p.Gln416His,ENST00000638023,;INHBA,missense_variant,p.Gln416His,ENST00000442711,;INHBA-AS1,upstream_gene_variant,,ENST00000415848,;INHBA-AS1,upstream_gene_variant,,ENST00000422822,;INHBA-AS1,upstream_gene_variant,,ENST00000420821,;INHBA,non_coding_transcript_exon_variant,,ENST00000464515,;INHBA,intron_variant,,ENST00000416150,;	A	ENST00000242208	Transcript	missense_variant	1495/6064	1248/1281	416/426	Q/H	caG/caT	COSM3638669	1		-1	INHBA	HGNC	HGNC:6066	protein_coding	YES	CCDS5464.1	ENSP00000242208	P08476	A4D1W7	UPI000012D421	NM_002192.2	tolerated(0.08)		3/3		PROSITE_profiles:PS51362,hmmpanther:PTHR11848:SF133,hmmpanther:PTHR11848,Pfam_domain:PF00019,Gene3D:2.10.90.10,SMART_domains:SM00204,Superfamily_domains:SSF57501											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	92	41689683	41689683	C	A	1	0	0	0	0	1	0	0	0	7643	912	32	2		2	INHBA	7	41689683	Missense_Mutation	SNP	C	C3N-02149_TP	10350641	41689683	117656290	215	30147											
PURB	0	.	GRCh38	chr7	44884800	44884800	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcttcgccagcgcgtcGcggaactcgatgaggccctg	7	7	14	13	6	0	2	0	2	0	0	3	4	0	3	2	2	3	1	2	2	1	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.549C>T	p.=	p.R183R	ENST00000395699	1/1	236	175	61	228	228	0	strelka-varscan-mutect	PURB,synonymous_variant,p.=,ENST00000395699,NM_033224.4;PURB,upstream_gene_variant,,ENST00000578157,;RP4-673M15.1,upstream_gene_variant,,ENST00000608450,;	A	ENST00000395699	Transcript	synonymous_variant	562/9069	549/939	183/312	R	cgC/cgT		1		-1	PURB	HGNC	HGNC:9702	protein_coding	YES	CCDS5499.1	ENSP00000379051	Q96QR8		UPI000006F6CE	NM_033224.4			1/1		Pfam_domain:PF04845,hmmpanther:PTHR12611,hmmpanther:PTHR12611:SF4,SMART_domains:SM00712																	LOW	1	SNV				1										PASS		.	.												A	2	1	92	44884800	44884800	G	A	1	0	0	0	0	0	0	0	1	12986	1074	38	1		1	PURB	7	44884800	Silent	SNP	G	C3N-02149_TP	3195117	44884800	114461173	216	30148											
RAMP3	0	.	GRCh38	chr7	45183280	45183280	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcttctccaactgcacCgtggacagggtccacttgga	8	10	10	13	1	2	0	0	0	2	0	4	2	3	2	3	3	2	2	3	3	1	3	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.315C>A	p.=	p.T105T	ENST00000242249	3/3	534	412	122	502	502	0	strelka-varscan-mutect	RAMP3,synonymous_variant,p.=,ENST00000242249,NM_005856.2;RAMP3,synonymous_variant,p.=,ENST00000481345,;RAMP3,synonymous_variant,p.=,ENST00000496212,;	A	ENST00000242249	Transcript	synonymous_variant	353/1323	315/447	105/148	T	acC/acA		1		1	RAMP3	HGNC	HGNC:9845	protein_coding	YES	CCDS5503.1	ENSP00000242249	O60896	A4D2L1	UPI0000134303	NM_005856.2			3/3		Pfam_domain:PF04901,hmmpanther:PTHR14076,hmmpanther:PTHR14076:SF2																	LOW	1	SNV	1			1										PASS		rs1043997154	.												A	2	1	92	45183280	45183280	C	A	1	0	0	0	0	0	0	0	1	13182	639	23	1		1	RAMP3	7	45183280	Silent	SNP	C	C3N-02149_TP	298480	45183280	114162693	217	30149											
IGFBP1	0	.	GRCh38	chr7	45888724	45888724	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggtcggcgtgacagcCggcgctccgtggcagtgcgc	4	6	17	14	6	0	1	0	1	0	0	3	1	2	1	3	4	2	2	3	4	0	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.72C>T	p.=	p.A24A	ENST00000275525	1/4	435	404	31	405	404	1	strelka-varscan-mutect	IGFBP1,synonymous_variant,p.=,ENST00000275525,NM_000596.2;IGFBP1,synonymous_variant,p.=,ENST00000457280,;IGFBP1,synonymous_variant,p.=,ENST00000468955,;	T	ENST00000275525	Transcript	synonymous_variant	368/1653	72/780	24/259	A	gcC/gcT		1		1	IGFBP1	HGNC	HGNC:5469	protein_coding	YES	CCDS5504.1	ENSP00000275525	P08833		UPI000012D10E	NM_000596.2			1/4		Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS51323,hmmpanther:PTHR11551,hmmpanther:PTHR11551:SF6																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	45888724	45888724	C	T	1	0	0	0	0	0	0	0	1	7484	639	23	1		1	IGFBP1	7	45888724	Silent	SNP	C	C3N-02149_TP	705444	45888724	113457249	218	30150											
UPP1	0	.	GRCh38	chr7	48106943	48106943	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggcagagtttgagcaGattgtcctggggaagcgggt	9	10	16	6	1	1	3	1	1	0	2	2	4	2	4	1	4	2	3	1	4	2	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.507G>T	p.Gln169His	p.Q169H	ENST00000331803	8/10	401	328	73	429	429	0	strelka-varscan-mutect	UPP1,missense_variant,p.Gln169His,ENST00000331803,NM_001287426.1;UPP1,missense_variant,p.Gln169His,ENST00000395564,NM_003364.3;UPP1,downstream_gene_variant,,ENST00000436673,;UPP1,downstream_gene_variant,,ENST00000416681,;UPP1,non_coding_transcript_exon_variant,,ENST00000482015,;UPP1,3_prime_UTR_variant,,ENST00000457596,;UPP1,3_prime_UTR_variant,,ENST00000395560,;UPP1,3_prime_UTR_variant,,ENST00000444999,;UPP1,3_prime_UTR_variant,,ENST00000417464,;UPP1,non_coding_transcript_exon_variant,,ENST00000495446,;UPP1,downstream_gene_variant,,ENST00000421046,;	T	ENST00000331803	Transcript	missense_variant	1130/1932	507/933	169/310	Q/H	caG/caT		1		1	UPP1	HGNC	HGNC:12576	protein_coding	YES	CCDS5507.1	ENSP00000330032	Q16831		UPI0000137AC5	NM_001287426.1	tolerated(0.38)		8/10		Gene3D:3.40.50.1580,Pfam_domain:PF01048,hmmpanther:PTHR21234,hmmpanther:PTHR21234:SF15,Superfamily_domains:SSF53167,TIGRFAM_domain:TIGR01719																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	48106943	48106943	G	T	1	0	0	0	0	1	0	0	0	17538	933	33	2		2	UPP1	7	48106943	Missense_Mutation	SNP	G	C3N-02149_TP	2218219	48106943	111239030	219	30151											
NUPR2	0	.	GRCh38	chr7	56116097	56116097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccattgaggagcttctgcGcgaccttgcgctcgtgcccg	4	9	14	14	5	1	1	0	1	1	0	2	3	1	2	3	2	4	2	3	2	0	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.218C>A	p.Ala73Glu	p.A73E	ENST00000329309	1/2	146	105	41	148	147	1	strelka-varscan-mutect	NUPR2,missense_variant,p.Ala73Glu,ENST00000329309,NM_001145712.1;	T	ENST00000329309	Transcript	missense_variant	304/603	218/294	73/97	A/E	gCg/gAg		1		-1	NUPR2	HGNC	HGNC:44164	protein_coding	YES	CCDS59058.1	ENSP00000455442	A6NF83		UPI00001D751D	NM_001145712.1	deleterious(0.03)		1/2		Pfam_domain:PF10195,hmmpanther:PTHR17149,hmmpanther:PTHR17149:SF3																	MODERATE	1	SNV	1			1										PASS		rs935923930	.												T	3	4	92	56116097	56116097	G	T	1	0	0	0	0	1	0	0	0	10842	1087	38	1		1	NUPR2	7	56116097	Missense_Mutation	SNP	G	C3N-02149_TP	8009154	56116097	103229876	220	30152											
FZD9	0	.	GRCh38	chr7	73435763	73435763	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaagacggacccctctttgGagaaccccacacacctctag	11	7	7	16	1	2	2	0	0	2	2	2	4	2	3	5	2	1	0	5	2	3	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1756G>T	p.Glu586Ter	p.E586*	ENST00000344575	1/1	107	89	18	108	108	0	strelka-varscan-mutect	FZD9,stop_gained,p.Glu586Ter,ENST00000344575,NM_003508.2;BAZ1B,downstream_gene_variant,,ENST00000339594,NM_032408.3;	T	ENST00000344575	Transcript	stop_gained	1981/2338	1756/1776	586/591	E/*	Gag/Tag		1		1	FZD9	HGNC	HGNC:4047	protein_coding	YES	CCDS5548.1	ENSP00000345785	O00144		UPI000004EC98	NM_003508.2			1/1		hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79																	HIGH		SNV				1										PASS		.	.												T	4	4	92	73435763	73435763	G	T	1	0	0	0	0	0	1	0	0	6008	1175	41	2		2	FZD9	7	73435763	Nonsense_Mutation	SNP	G	C3N-02149_TP	17319666	73435763	85910210	221	30153											
CLIP2	0	.	GRCh38	chr7	74338498	74338498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcctccccggccgcaGctgctgcccccgagaagccg	4	5	10	22	4	0	1	0	0	0	1	3	2	3	1	9	1	4	3	9	1	1	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.172G>T	p.Ala58Ser	p.A58S	ENST00000223398	3/17	420	374	46	335	335	0	strelka-varscan-mutect	CLIP2,missense_variant,p.Ala58Ser,ENST00000223398,NM_003388.4;CLIP2,missense_variant,p.Ala58Ser,ENST00000361545,NM_032421.2;CLIP2,missense_variant,p.Ala58Ser,ENST00000395060,;	T	ENST00000223398	Transcript	missense_variant	499/5563	172/3141	58/1046	A/S	Gct/Tct		1		1	CLIP2	HGNC	HGNC:2586	protein_coding	YES	CCDS5569.1	ENSP00000223398	Q9UDT6		UPI000007061E	NM_003388.4	tolerated(0.3)		3/17		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	92	74338498	74338498	G	T	1	0	0	0	0	1	0	0	0	3302	971	34	2		2	CLIP2	7	74338498	Missense_Mutation	SNP	G	C3N-02149_TP	902735	74338498	85007475	222	30154											
RCC1L	0	.	GRCh38	chr7	75073575	75073575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgcgatcggcgcgggcagCgcgctcgcccacgtactgga	6	4	16	15	9	0	0	0	0	0	0	2	3	0	1	1	3	2	3	1	3	1	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.163G>T	p.Ala55Ser	p.A55S	ENST00000610322	1/11	95	70	25	165	165	0	strelka-varscan-mutect	RCC1L,missense_variant,p.Ala55Ser,ENST00000614461,NM_148842.2;RCC1L,missense_variant,p.Ala55Ser,ENST00000610322,NM_030798.4;RCC1L,missense_variant,p.Ala55Ser,ENST00000618035,NM_001281441.1;RCC1L,intron_variant,,ENST00000615250,;RCC1L,non_coding_transcript_exon_variant,,ENST00000616051,;	A	ENST00000610322	Transcript	missense_variant	219/2300	163/1395	55/464	A/S	Gct/Tct		1		-1	RCC1L	HGNC	HGNC:14948	protein_coding	YES	CCDS5577.1	ENSP00000480364	Q96I51		UPI0000138F99	NM_030798.4	tolerated(0.46)		1/11		hmmpanther:PTHR22870																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	75073575	75073575	C	A	1	0	0	0	0	1	0	0	0	13343	768	27	1		1	RCC1L	7	75073575	Missense_Mutation	SNP	C	C3N-02149_TP	735077	75073575	84272398	223	30155											
HGF	0	.	GRCh38	chr7	81702643	81702643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattttgcataatatgctaCtcggacaaaaataccaggac	15	10	6	10	1	0	0	0	0	0	0	1	2	0	2	2	2	4	2	2	2	6	6	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2125G>T	p.Val709Leu	p.V709L	ENST00000222390	18/18	225	174	51	248	248	0	strelka-varscan-mutect	HGF,missense_variant,p.Val709Leu,ENST00000222390,NM_000601.4;HGF,missense_variant,p.Val704Leu,ENST00000457544,NM_001010932.1;	A	ENST00000222390	Transcript	missense_variant	2352/5989	2125/2187	709/728	V/L	Gta/Tta		1		-1	HGF	HGNC	HGNC:4893	protein_coding	YES	CCDS5597.1	ENSP00000222390	P14210		UPI000000D92B	NM_000601.4	deleterious(0.01)		18/18		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF190,hmmpanther:PTHR24256,PIRSF_domain:PIRSF500183,PIRSF_domain:PIRSF001152,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	81702643	81702643	C	A	1	0	0	0	0	1	0	0	0	6969	565	20	2		2	HGF	7	81702643	Missense_Mutation	SNP	C	C3N-02149_TP	6629068	81702643	77643330	224	30156											
PCLO	0	.	GRCh38	chr7	82915108	82915108	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catagacagaggaaggtctgGaggaaggtctggacctgctg	11	7	16	7	0	2	2	0	0	2	2	2	6	2	6	1	6	1	1	1	6	3	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.12878C>G	p.Ser4293Cys	p.S4293C	ENST00000333891	7/25	403	329	74	406	406	0	strelka-varscan-mutect	PCLO,missense_variant,p.Ser4293Cys,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Ser4293Cys,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Ser1013Cys,ENST00000437081,;	C	ENST00000333891	Transcript	missense_variant	13216/20329	12878/15429	4293/5142	S/C	tCc/tGc		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	deleterious(0)		7/25		Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	92	82915108	82915108	G	C	1	0	0	0	0	1	0	0	0	11671	1174	41	4		4	PCLO	7	82915108	Missense_Mutation	SNP	G	C3N-02149_TP	1212465	82915108	76430865	225	30157											
ABCB4	0	.	GRCh38	chr7	87447135	87447135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tattaacaggaaggcaatacCcatggaaatgtttgctgaaa	16	10	9	6	0	0	1	0	1	0	0	0	3	0	3	1	3	3	3	1	3	7	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.904G>T	p.Gly302Cys	p.G302C	ENST00000265723	9/28	401	329	72	492	492	0	strelka-varscan-mutect	ABCB4,missense_variant,p.Gly302Cys,ENST00000265723,NM_018849.2;ABCB4,missense_variant,p.Gly302Cys,ENST00000359206,NM_000443.3;ABCB4,missense_variant,p.Gly302Cys,ENST00000358400,NM_018850.2;ABCB4,missense_variant,p.Gly302Cys,ENST00000453593,;	A	ENST00000265723	Transcript	missense_variant	1016/4020	904/3861	302/1286	G/C	Ggt/Tgt		1		-1	ABCB4	HGNC	HGNC:45	protein_coding	YES	CCDS5606.1	ENSP00000265723	P21439		UPI000013D66B	NM_018849.2	deleterious(0)		9/28		Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,Superfamily_domains:SSF90123,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	87447135	87447135	C	A	1	0	0	0	0	1	0	0	0	47	623	22	2		2	ABCB4	7	87447135	Missense_Mutation	SNP	C	C3N-02149_TP	4532027	87447135	71898838	226	30158											
STEAP1	0	.	GRCh38	chr7	90160961	90160961	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caattaaaatagctgctattAtagcatctctgacttttctt	12	17	4	8	0	2	1	0	1	2	0	3	1	2	1	0	0	3	3	0	0	7	8	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.241A>T	p.Ile81Leu	p.I81L	ENST00000297205	3/5	399	341	58	456	456	0	strelka-varscan-mutect	STEAP1,missense_variant,p.Ile81Leu,ENST00000297205,NM_012449.2;STEAP2-AS1,intron_variant,,ENST00000478318,;STEAP1,non_coding_transcript_exon_variant,,ENST00000475789,;STEAP1,upstream_gene_variant,,ENST00000412573,;	T	ENST00000297205	Transcript	missense_variant	441/1313	241/1020	81/339	I/L	Ata/Tta		1		1	STEAP1	HGNC	HGNC:11378	protein_coding	YES	CCDS5614.1	ENSP00000297205	Q9UHE8		UPI000003C398	NM_012449.2	tolerated(1)		3/5		Transmembrane_helices:TMhelix,hmmpanther:PTHR14239:SF3,hmmpanther:PTHR14239																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	90160961	90160961	A	T	1	0	0	0	0	1	0	0	0	15653	449	16	4		4	STEAP1	7	90160961	Missense_Mutation	SNP	A	C3N-02149_TP	2713826	90160961	69185012	227	30159											
TECPR1	0	.	GRCh38	chr7	98231059	98231059	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgatggaccagatggcctgCggggacgggcggccctgcac	6	5	18	12	3	0	2	0	1	0	1	0	4	0	4	3	6	2	1	3	6	0	0	rs775757627		C3N-02149_TP	C3N-02149_NB	C	C																c.2184G>T	p.=	p.P728P	ENST00000447648	15/26	265	207	58	240	240	0	strelka-varscan-mutect	TECPR1,synonymous_variant,p.=,ENST00000447648,NM_015395.2;TECPR1,non_coding_transcript_exon_variant,,ENST00000479911,;TECPR1,upstream_gene_variant,,ENST00000479975,;TECPR1,downstream_gene_variant,,ENST00000471397,;TECPR1,upstream_gene_variant,,ENST00000476659,;TECPR1,non_coding_transcript_exon_variant,,ENST00000490842,;TECPR1,non_coding_transcript_exon_variant,,ENST00000483740,;	A	ENST00000447648	Transcript	synonymous_variant	2484/6564	2184/3498	728/1165	P	ccG/ccT	rs775757627,COSM3883664	1		-1	TECPR1	HGNC	HGNC:22214	protein_coding	YES	CCDS47648.1	ENSP00000404923	Q7Z6L1		UPI0000161940	NM_015395.2			15/26		hmmpanther:PTHR23250,hmmpanther:PTHR23250:SF1,SMART_domains:SM00706											0,1						LOW	1	SNV	1		0,1	1										PASS		rs775757627	.												A	2	1	92	98231059	98231059	C	A	1	0	0	0	0	0	0	0	1	16154	755	27	1		1	TECPR1	7	98231059	Silent	SNP	C	C3N-02149_TP	8070098	98231059	61114914	228	30160											
CPSF4	0	.	GRCh38	chr7	99448148	99448148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccgtttcgccacatcaGtggtgagaagacagttgtgt	8	12	13	8	2	1	2	1	1	0	2	3	3	2	2	2	1	0	2	2	1	1	2	rs563837153		C3N-02149_TP	C3N-02149_NB	G	G																c.182G>T	p.Ser61Ile	p.S61I	ENST00000292476	3/8	238	194	44	229	229	0	strelka-varscan-mutect	CPSF4,missense_variant,p.Ser61Ile,ENST00000436336,NM_001318160.1,NM_001081559.1;CPSF4,missense_variant,p.Ser61Ile,ENST00000292476,NM_006693.2;CPSF4,missense_variant,p.Ser61Ile,ENST00000451876,;CPSF4,missense_variant,p.Ser8Ile,ENST00000441580,;CPSF4,missense_variant,p.Ser8Ile,ENST00000412686,;CPSF4,missense_variant,p.Ser28Ile,ENST00000452047,;ATP5J2-PTCD1,intron_variant,,ENST00000413834,NM_001198879.1;PTCD1,intron_variant,,ENST00000430982,;CPSF4,upstream_gene_variant,,ENST00000440514,;CPSF4,non_coding_transcript_exon_variant,,ENST00000471455,;ATP5J2-PTCD1,non_coding_transcript_exon_variant,,ENST00000437572,;ATP5J2,downstream_gene_variant,,ENST00000466753,;CPSF4,3_prime_UTR_variant,,ENST00000430038,;CPSF4,non_coding_transcript_exon_variant,,ENST00000484112,;ATP5J2-PTCD1,intron_variant,,ENST00000451138,;CPSF4,upstream_gene_variant,,ENST00000465132,;CPSF4,upstream_gene_variant,,ENST00000482251,;ATP5J2,downstream_gene_variant,,ENST00000414062,;AC073063.10,upstream_gene_variant,,ENST00000434352,;	T	ENST00000292476	Transcript	missense_variant	192/1691	182/810	61/269	S/I	aGt/aTt	rs563837153	1		1	CPSF4	HGNC	HGNC:2327	protein_coding	YES	CCDS5664.1	ENSP00000292476	O95639		UPI0000072392	NM_006693.2	tolerated(0.14)		3/8		Pfam_domain:PF15663,hmmpanther:PTHR23102,hmmpanther:PTHR23102:SF18,SMART_domains:SM00356																	MODERATE	1	SNV	1			1										PASS		rs563837153	.												T	3	4	92	99448148	99448148	G	T	1	0	0	0	0	1	0	0	0	3624	1029	36	2		2	CPSF4	7	99448148	Missense_Mutation	SNP	G	C3N-02149_TP	1217089	99448148	59897825	229	30161											
AZGP1	0	.	GRCh38	chr7	99968209	99968209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtatttccgcagagtcgcagGgcactcctcctccaggtaag	8	9	11	13	2	0	1	0	0	0	1	5	1	4	1	4	2	0	5	4	2	2	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.559C>A	p.Pro187Thr	p.P187T	ENST00000292401	3/4	365	289	76	321	321	0	strelka-varscan-mutect	AZGP1,missense_variant,p.Pro184Thr,ENST00000411734,;AZGP1,missense_variant,p.Pro187Thr,ENST00000292401,NM_001185.3;AZGP1,intron_variant,,ENST00000419575,;AZGP1,upstream_gene_variant,,ENST00000483612,;AZGP1,non_coding_transcript_exon_variant,,ENST00000477251,;AZGP1,downstream_gene_variant,,ENST00000495765,;	T	ENST00000292401	Transcript	missense_variant	696/1307	559/897	187/298	P/T	Cct/Act		1		-1	AZGP1	HGNC	HGNC:910	protein_coding	YES	CCDS5680.1	ENSP00000292401	P25311	A0A140VK00	UPI00000720DE	NM_001185.3	tolerated(0.26)		3/4		hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF168,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452,Prints_domain:PR01638																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	99968209	99968209	G	T	1	0	0	0	0	1	0	0	0	1396	1232	43	2		2	AZGP1	7	99968209	Missense_Mutation	SNP	G	C3N-02149_TP	520061	99968209	59377764	230	30162											
GAL3ST4	0	.	GRCh38	chr7	100160191	100160191	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtttcgctagggcctctcGgcgagcccggagctcggcca	5	8	14	14	5	1	0	0	0	1	0	4	2	1	1	3	4	2	3	3	4	1	2	rs769238120		C3N-02149_TP	C3N-02149_NB	G	G																c.1198C>A	p.=	p.R400R	ENST00000360039	4/4	220	168	52	218	218	0	strelka-varscan-mutect	GAL3ST4,synonymous_variant,p.=,ENST00000360039,NM_024637.4;GAL3ST4,synonymous_variant,p.=,ENST00000413800,;GAL3ST4,3_prime_UTR_variant,,ENST00000423751,;GAL3ST4,3_prime_UTR_variant,,ENST00000411994,;C7orf43,upstream_gene_variant,,ENST00000316937,NM_018275.4;C7orf43,upstream_gene_variant,,ENST00000456769,NM_001303470.1;C7orf43,upstream_gene_variant,,ENST00000457641,;GAL3ST4,downstream_gene_variant,,ENST00000498000,;LAMTOR4,downstream_gene_variant,,ENST00000490633,;C7orf43,upstream_gene_variant,,ENST00000584344,;GAL3ST4,non_coding_transcript_exon_variant,,ENST00000495882,;C7orf43,upstream_gene_variant,,ENST00000419037,;C7orf43,upstream_gene_variant,,ENST00000448720,;C7orf43,upstream_gene_variant,,ENST00000419841,;C7orf43,upstream_gene_variant,,ENST00000394035,;C7orf43,upstream_gene_variant,,ENST00000470260,;C7orf43,upstream_gene_variant,,ENST00000498638,;C7orf43,upstream_gene_variant,,ENST00000472061,;	T	ENST00000360039	Transcript	synonymous_variant	1591/2537	1198/1461	400/486	R	Cga/Aga	rs769238120	1		-1	GAL3ST4	HGNC	HGNC:24145	protein_coding	YES	CCDS5688.1	ENSP00000353142	Q96RP7		UPI0000070C68	NM_024637.4			4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR14647,hmmpanther:PTHR14647:SF57,Pfam_domain:PF06990																	LOW	1	SNV	1			1										PASS		rs769238120	.												T	2	4	92	100160191	100160191	G	T	1	0	0	0	0	0	0	0	1	6068	1124	39	1		1	GAL3ST4	7	100160191	Silent	SNP	G	C3N-02149_TP	191982	100160191	59185782	231	30163											
GIGYF1	0	.	GRCh38	chr7	100683845	100683845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaggctgaggtatgtaCgtcccagaggcggcccgaat	9	8	15	9	3	0	4	0	3	0	1	1	5	1	4	2	4	1	3	2	4	3	2	rs140997486		C3N-02149_TP	C3N-02149_NB	C	C																c.1942G>A	p.Val648Ile	p.V648I	ENST00000275732	16/24	304	245	59	327	327	0	strelka-varscan-mutect	GIGYF1,missense_variant,p.Val648Ile,ENST00000275732,NM_022574.4;GNB2,downstream_gene_variant,,ENST00000303210,NM_005273.3;GNB2,downstream_gene_variant,,ENST00000393926,;GNB2,downstream_gene_variant,,ENST00000393924,;GNB2,downstream_gene_variant,,ENST00000436220,;GNB2,downstream_gene_variant,,ENST00000424361,;GNB2,downstream_gene_variant,,ENST00000419828,;GNB2,downstream_gene_variant,,ENST00000427895,;GIGYF1,downstream_gene_variant,,ENST00000471340,;GNB2,downstream_gene_variant,,ENST00000469287,;GIGYF1,downstream_gene_variant,,ENST00000464111,;GIGYF1,downstream_gene_variant,,ENST00000472105,;	T	ENST00000275732	Transcript	missense_variant	3152/6530	1942/3108	648/1035	V/I	Gta/Ata	rs140997486	1		-1	GIGYF1	HGNC	HGNC:9126	protein_coding	YES	CCDS34708.1	ENSP00000275732	O75420		UPI00001BD8AD	NM_022574.4	tolerated(0.16)		16/24		hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF37																	MODERATE	1	SNV	1			1										PASS		rs140997486	.												T	3	4	92	100683845	100683845	C	T	1	0	0	0	0	1	0	0	0	6257	536	19	1		1	GIGYF1	7	100683845	Missense_Mutation	SNP	C	C3N-02149_TP	523654	100683845	58662128	232	30164											
MUC3A	0	.	GRCh38	chr7	100960643	100960643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccacgttgaccaccactgCaggttggaccttctgcctct	6	11	9	15	1	2	1	0	1	2	0	3	2	3	2	5	2	2	3	5	2	0	3	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.8864C>A	p.Ala2955Glu	p.A2955E	ENST00000379458	2/12	146	124	22	166	166	0	strelka-varscan-mutect	MUC3A,missense_variant,p.Ala2955Glu,ENST00000379458,NM_005960.1;MUC3A,missense_variant,p.Ala2955Glu,ENST00000483366,;RP11-395B7.2,downstream_gene_variant,,ENST00000618276,;RP11-395B7.2,downstream_gene_variant,,ENST00000610769,;MUC3A,missense_variant,p.Ala894Glu,ENST00000414964,;	A	ENST00000379458	Transcript	missense_variant,splice_region_variant	8934/11226	8864/9972	2955/3323	A/E	gCa/gAa		1		1	MUC3A	HGNC	HGNC:7513	protein_coding	YES	CCDS78262.1	ENSP00000368771	Q02505		UPI000455B941	NM_005960.1	deleterious_low_confidence(0.01)		2/12		hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22,Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	92	100960643	100960643	C	A	1	0	0	0	0	1	0	0	0	9976	724	25	2		2	MUC3A	7	100960643	Missense_Mutation	SNP	C	C3N-02149_TP	276798	100960643	58385330	233	30165											
PUS7	0	.	GRCh38	chr7	105481148	105481148	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagagttcatagcttgcTgtacttggtcatcagttcct	8	15	10	8	0	3	2	3	1	0	1	4	3	4	2	1	1	3	5	1	1	2	6			C3N-02149_TP	C3N-02149_NB	T	T																c.1079A>T	p.Gln360Leu	p.Q360L	ENST00000356362	9/16	211	181	30	274	274	0	strelka-varscan-mutect	PUS7,missense_variant,p.Gln360Leu,ENST00000356362,NM_001318163.1,NM_001318164.1,NM_019042.3;PUS7,missense_variant,p.Gln360Leu,ENST00000469408,;PUS7,missense_variant,p.Gln360Leu,ENST00000481939,;	A	ENST00000356362	Transcript	missense_variant	1294/3480	1079/1986	360/661	Q/L	cAg/cTg	COSM4186144	1		-1	PUS7	HGNC	HGNC:26033	protein_coding	YES	CCDS34725.1	ENSP00000348722	Q96PZ0		UPI00001D483E	NM_001318163.1,NM_001318164.1,NM_019042.3	deleterious(0.01)		9/16		Pfam_domain:PF01142,hmmpanther:PTHR13326,hmmpanther:PTHR13326:SF1,Superfamily_domains:SSF55120,TIGRFAM_domain:TIGR00094											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	92	105481148	105481148	T	A	1	0	0	0	0	1	0	0	0	12991	1580	55	4		4	PUS7	7	105481148	Missense_Mutation	SNP	T	C3N-02149_TP	4520505	105481148	53864825	234	30166											
CCDC71L	0	.	GRCh38	chr7	106660583	106660583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtcgggtaccagggccCggcaggaggagtagccgtag	7	4	21	9	3	0	0	0	0	0	0	1	2	0	2	3	7	2	4	3	7	3	3	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.314G>T	p.Arg105Leu	p.R105L	ENST00000523505	1/1	263	212	51	265	265	0	strelka-varscan-mutect	CCDC71L,missense_variant,p.Arg105Leu,ENST00000523505,NM_175884.4;CCDC71L,intron_variant,,ENST00000315965,;CTB-111H14.1,intron_variant,,ENST00000592441,;CTB-111H14.1,intron_variant,,ENST00000490856,;	A	ENST00000523505	Transcript	missense_variant	414/4232	314/708	105/235	R/L	cGg/cTg		1		-1	CCDC71L	HGNC	HGNC:26685	protein_coding	YES	CCDS55151.1	ENSP00000430897	Q8N9Z2		UPI00003CF1DF	NM_175884.4	deleterious(0.01)		1/1		hmmpanther:PTHR14484:SF1,hmmpanther:PTHR14484,Pfam_domain:PF15374																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	92	106660583	106660583	C	A	1	0	0	0	0	1	0	0	0	2545	652	23	1		1	CCDC71L	7	106660583	Missense_Mutation	SNP	C	C3N-02149_TP	1179435	106660583	52685390	235	30167											
SLC26A4	0	.	GRCh38	chr7	107710110	107710110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgacgacaacattagaaagGacacattctttttgacggtc	13	12	8	8	2	1	3	0	2	1	1	2	5	1	4	0	2	1	0	0	2	3	5	rs761870156		C3N-02149_TP	C3N-02149_NB	G	G																c.2146G>T	p.Asp716Tyr	p.D716Y	ENST00000265715	19/21	387	284	103	444	444	0	strelka-varscan-mutect	SLC26A4,missense_variant,p.Asp716Tyr,ENST00000265715,NM_000441.1;SLC26A4,intron_variant,,ENST00000492030,;	T	ENST00000265715	Transcript	missense_variant	2370/4930	2146/2343	716/780	D/Y	Gac/Tac	rs761870156	1		1	SLC26A4	HGNC	HGNC:8818	protein_coding	YES	CCDS5746.1	ENSP00000265715	O43511		UPI00001315A4	NM_000441.1	deleterious(0.02)		19/21		Gene3D:3.30.750.24,Pfam_domain:PF01740,PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF33,Superfamily_domains:SSF52091,TIGRFAM_domain:TIGR00815																	MODERATE	1	SNV	1			1										PASS		rs761870156	.												T	3	4	92	107710110	107710110	G	T	1	0	0	0	0	1	0	0	0	14789	1174	41	2		2	SLC26A4	7	107710110	Missense_Mutation	SNP	G	C3N-02149_TP	1049527	107710110	51635863	236	30168											
LAMB4	0	.	GRCh38	chr7	108063954	108063954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaattcttggatttccataGaaaccagtagagcattctcc	13	12	7	9	0	2	2	0	0	2	2	4	4	3	3	3	1	2	2	3	1	4	6	rs767544532		C3N-02149_TP	C3N-02149_NB	G	G																c.2868C>G	p.Phe956Leu	p.F956L	ENST00000388781	22/34	353	317	36	381	381	0	strelka-varscan-mutect	LAMB4,missense_variant,p.Phe956Leu,ENST00000388781,NM_007356.2;LAMB4,missense_variant,p.Phe956Leu,ENST00000205386,NM_001318046.1;LAMB4,upstream_gene_variant,,ENST00000422975,;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;LAMB4,non_coding_transcript_exon_variant,,ENST00000471677,;	C	ENST00000388781	Transcript	missense_variant	2952/5858	2868/5286	956/1761	F/L	ttC/ttG	rs767544532,COSM1083977,COSM4863422	1		-1	LAMB4	HGNC	HGNC:6491	protein_coding	YES	CCDS34732.1	ENSP00000373433	A4D0S4		UPI0000198CD5	NM_007356.2	deleterious(0.01)		22/34		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,SMART_domains:SM00180,Superfamily_domains:SSF57196											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs767544532	.												C	3	2	92	108063954	108063954	G	C	1	0	0	0	0	1	0	0	0	8517	933	33	4		4	LAMB4	7	108063954	Missense_Mutation	SNP	G	C3N-02149_TP	353844	108063954	51282019	237	30169											
CADPS2	0	.	GRCh38	chr7	122387132	122387132	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatgcgcaagtcagttgttTtgcttgccttttgtagcttg	6	17	11	7	1	1	0	1	0	0	0	1	1	1	0	1	0	4	6	1	0	3	8	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.3206A>G	p.Lys1069Arg	p.K1069R	ENST00000449022	24/30	307	262	45	265	265	0	strelka-varscan-mutect	CADPS2,missense_variant,p.Lys1074Arg,ENST00000615869,;CADPS2,missense_variant,p.Lys967Arg,ENST00000313070,NM_001167940.1;CADPS2,missense_variant,p.Lys1067Arg,ENST00000334010,;CADPS2,missense_variant,p.Lys1023Arg,ENST00000412584,NM_001009571.3;CADPS2,missense_variant,p.Lys1069Arg,ENST00000449022,NM_017954.10;CADPS2,missense_variant,p.Lys672Arg,ENST00000397721,;CADPS2,missense_variant,p.Lys263Arg,ENST00000462699,;RP5-1101C3.1,intron_variant,,ENST00000591140,;RP5-1101C3.1,intron_variant,,ENST00000625850,;RP5-1101C3.1,intron_variant,,ENST00000628268,;RP5-1101C3.1,intron_variant,,ENST00000593910,;RP5-1101C3.1,intron_variant,,ENST00000626740,;RP5-1101C3.1,intron_variant,,ENST00000630777,;RP5-1101C3.1,intron_variant,,ENST00000631248,;RP5-1101C3.1,intron_variant,,ENST00000627005,;RP5-1101C3.1,downstream_gene_variant,,ENST00000626052,;	C	ENST00000449022	Transcript	missense_variant	3226/4073	3206/3891	1069/1296	K/R	aAa/aGa		1		-1	CADPS2	HGNC	HGNC:16018	protein_coding	YES	CCDS55158.1	ENSP00000398481	Q86UW7		UPI0000668808	NM_017954.10	tolerated(0.54)		24/30		hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF7																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	92	122387132	122387132	T	C	1	0	0	0	0	1	0	0	0	2261	1841	64	5		5	CADPS2	7	122387132	Missense_Mutation	SNP	T	C3N-02149_TP	14323178	122387132	36958841	238	30170											
RNF133	0	.	GRCh38	chr7	122698074	122698074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaatccaggggtcaatgCaattcttgtggaaaaaatgt	15	11	10	5	0	2	0	1	0	1	0	3	1	3	1	1	3	1	2	1	3	7	3	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.845G>T	p.Cys282Phe	p.C282F	ENST00000340112	1/1	315	267	48	380	379	1	strelka-varscan-mutect	RNF133,missense_variant,p.Cys282Phe,ENST00000340112,NM_139175.1;CADPS2,intron_variant,,ENST00000615869,;CADPS2,intron_variant,,ENST00000313070,NM_001167940.1;CADPS2,intron_variant,,ENST00000334010,;CADPS2,intron_variant,,ENST00000412584,NM_001009571.3;CADPS2,intron_variant,,ENST00000449022,NM_017954.10;RNF148,downstream_gene_variant,,ENST00000434824,NM_198085.1;RNF148,downstream_gene_variant,,ENST00000447240,;	A	ENST00000340112	Transcript	missense_variant	1083/1445	845/1131	282/376	C/F	tGc/tTc		1		-1	RNF133	HGNC	HGNC:21154	protein_coding	YES	CCDS5784.1	ENSP00000344489	Q8WVZ7		UPI0000070D9A	NM_139175.1	deleterious(0)		1/1		PROSITE_profiles:PS50089,hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF38,Pfam_domain:PF13639,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850																	MODERATE		SNV				1										PASS		.	.												A	3	1	92	122698074	122698074	C	A	1	0	0	0	0	1	0	0	0	13617	710	25	2		2	RNF133	7	122698074	Missense_Mutation	SNP	C	C3N-02149_TP	310942	122698074	36647899	239	30171											
LMOD2	0	.	GRCh38	chr7	123656199	123656199	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggaaaaggagtcccaaaAactcttggagaaggagaggc	15	6	14	6	0	1	2	0	0	1	2	2	6	2	4	1	5	1	0	1	5	5	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.236A>T	p.Lys79Ile	p.K79I	ENST00000458573	1/3	242	210	32	246	245	1	strelka-varscan-mutect	LMOD2,missense_variant,p.Lys79Ile,ENST00000458573,NM_207163.1;LMOD2,missense_variant,p.Lys79Ile,ENST00000456238,;	T	ENST00000458573	Transcript	missense_variant	393/2346	236/1644	79/547	K/I	aAa/aTa		1		1	LMOD2	HGNC	HGNC:6648	protein_coding	YES	CCDS47693.1	ENSP00000411932	Q6P5Q4		UPI0001572CCA	NM_207163.1	deleterious(0)		1/3		Pfam_domain:PF03250,hmmpanther:PTHR10901,hmmpanther:PTHR10901:SF12																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	92	123656199	123656199	A	T	1	0	0	0	0	1	0	0	0	8784	14	1	4		4	LMOD2	7	123656199	Missense_Mutation	SNP	A	C3N-02149_TP	958125	123656199	35689774	240	30172											
IMPDH1	0	.	GRCh38	chr7	128395001	128395001	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagtactcgccaggggcctCcgtagtggcggccagcaggg	7	5	17	12	3	0	0	0	0	0	0	2	1	1	0	4	5	2	3	4	5	3	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1438G>T	p.Glu480Ter	p.E480*	ENST00000338791	14/17	488	375	113	511	509	2	strelka-varscan-mutect	IMPDH1,stop_gained,p.Glu480Ter,ENST00000338791,NM_000883.3;IMPDH1,stop_gained,p.Glu394Ter,ENST00000626419,;IMPDH1,stop_gained,p.Glu470Ter,ENST00000354269,NM_001102605.1;IMPDH1,stop_gained,p.Glu444Ter,ENST00000348127,NM_183243.2,NM_001304521.1;IMPDH1,stop_gained,p.Glu447Ter,ENST00000419067,NM_001142576.1;IMPDH1,stop_gained,p.Glu370Ter,ENST00000496200,NM_001142575.1;IMPDH1,stop_gained,p.Glu394Ter,ENST00000470772,NM_001142573.1;IMPDH1,stop_gained,p.Glu390Ter,ENST00000480861,NM_001142574.1;IMPDH1,downstream_gene_variant,,ENST00000497868,;IMPDH1,splice_region_variant,,ENST00000460045,;IMPDH1,3_prime_UTR_variant,,ENST00000484496,;IMPDH1,3_prime_UTR_variant,,ENST00000469328,;IMPDH1,downstream_gene_variant,,ENST00000468842,;	A	ENST00000338791	Transcript	stop_gained	1789/2881	1438/1800	480/599	E/*	Gag/Tag		1		-1	IMPDH1	HGNC	HGNC:6052	protein_coding	YES	CCDS34749.1	ENSP00000345096	P20839		UPI00001BDC74	NM_000883.3			14/17		HAMAP:MF_01964,hmmpanther:PTHR11911:SF74,hmmpanther:PTHR11911,Pfam_domain:PF00478,TIGRFAM_domain:TIGR01302,Gene3D:3.20.20.70,SMART_domains:SM01240,Superfamily_domains:SSF51412																	HIGH	1	SNV	2			1										PASS		.	.												A	4	1	92	128395001	128395001	C	A	1	0	0	0	0	0	1	0	0	7628	864	30	2		2	IMPDH1	7	128395001	Nonsense_Mutation	SNP	C	C3N-02149_TP	4738802	128395001	30950972	241	30173											
FAM71F1	0	.	GRCh38	chr7	128715584	128715584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggatggagagccgaaccCtggagcgggcctaggtgtgg	7	7	19	8	2	0	1	0	0	0	1	0	5	0	3	3	6	3	0	3	6	2	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.143C>A	p.Pro48His	p.P48H	ENST00000315184	1/7	415	319	96	400	400	0	strelka-varscan-mutect	FAM71F1,missense_variant,p.Pro48His,ENST00000315184,NM_001282788.1,NM_032599.3;FAM71F1,intron_variant,,ENST00000621392,;FAM71F1,intron_variant,,ENST00000485070,NM_001282789.1;FAM71F1,upstream_gene_variant,,ENST00000466842,;FAM71F1,non_coding_transcript_exon_variant,,ENST00000483459,;FAM71F1,intron_variant,,ENST00000469348,;FAM71F1,missense_variant,p.Pro48His,ENST00000471558,;FAM71F1,intron_variant,,ENST00000484425,;FAM71F1,intron_variant,,ENST00000493738,;	A	ENST00000315184	Transcript	missense_variant	196/1718	143/1035	48/344	P/H	cCt/cAt		1		1	FAM71F1	HGNC	HGNC:30704	protein_coding	YES	CCDS5804.1	ENSP00000326652	Q96KD3	A0A140VJJ3	UPI000006D961	NM_001282788.1,NM_032599.3	deleterious(0.01)		1/7		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	128715584	128715584	C	A	1	0	0	0	0	1	0	0	0	5477	681	24	2		2	FAM71F1	7	128715584	Missense_Mutation	SNP	C	C3N-02149_TP	320583	128715584	30630389	242	30174											
FLNC	0	.	GRCh38	chr7	128848801	128848801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctccctcaggaccccgaGggtaagcccaagaaggccaa	11	5	10	15	1	2	1	1	0	1	1	3	3	2	2	5	3	1	1	5	3	4	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.4746G>T	p.Glu1582Asp	p.E1582D	ENST00000325888	28/48	633	563	70	672	669	3	strelka-varscan-mutect	FLNC,missense_variant,p.Glu1582Asp,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Glu1582Asp,ENST00000346177,NM_001127487.1;RP11-309L24.2,downstream_gene_variant,,ENST00000469965,;	T	ENST00000325888	Transcript	missense_variant	5007/9188	4746/8178	1582/2725	E/D	gaG/gaT		1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4	tolerated(0.25)		28/48		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF210,SMART_domains:SM00557,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		rs1417108770	.												T	3	4	92	128848801	128848801	G	T	1	0	0	0	0	1	0	0	0	5791	991	35	2		2	FLNC	7	128848801	Missense_Mutation	SNP	G	C3N-02149_TP	133217	128848801	30497172	243	30175											
KCP	0	.	GRCh38	chr7	128892541	128892541	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggggcaacactggcctgGtccactctggggcctggcac	5	7	14	15	0	1	0	0	0	1	0	2	0	2	0	4	7	1	2	4	7	1	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1594C>G	p.Pro532Ala	p.P532A	ENST00000610776	16/40	81	70	11	72	72	0	strelka-varscan-mutect	KCP,missense_variant,p.Pro532Ala,ENST00000610776,;KCP,missense_variant,p.Pro536Ala,ENST00000613019,;KCP,missense_variant,p.Pro475Ala,ENST00000620378,NM_001135914.1;KCP,non_coding_transcript_exon_variant,,ENST00000612224,;KCP,missense_variant,p.Pro536Ala,ENST00000611280,;KCP,non_coding_transcript_exon_variant,,ENST00000616669,;	C	ENST00000610776	Transcript	missense_variant	1637/5108	1594/4887	532/1628	P/A	Cca/Gca		1		-1	KCP	HGNC	HGNC:17585	protein_coding	YES		ENSP00000479679		A0A087WVT8	UPI0004620CE8		tolerated(0.06)		16/40		PROSITE_profiles:PS50184,PROSITE_patterns:PS01208,Pfam_domain:PF00093,SMART_domains:SM00215,SMART_domains:SM00214,Superfamily_domains:SSF57603																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	92	128892541	128892541	G	C	1	0	0	0	0	1	0	0	0	8012	1261	44	4		4	KCP	7	128892541	Missense_Mutation	SNP	G	C3N-02149_TP	43740	128892541	30453432	244	30176											
PLXNA4	0	.	GRCh38	chr7	132227590	132227590	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagctccgggacattgtaCgtctccaggaccagctgtga	9	8	12	12	2	1	1	0	1	1	0	3	4	2	3	3	2	3	3	3	2	1	2	rs369889571		C3N-02149_TP	C3N-02149_NB	C	C																c.1743G>A	p.=	p.T581T	ENST00000359827	7/32	253	196	57	261	260	1	strelka-varscan-mutect	PLXNA4,synonymous_variant,p.=,ENST00000359827,;PLXNA4,synonymous_variant,p.=,ENST00000321063,NM_020911.1;	T	ENST00000359827	Transcript	synonymous_variant	2706/13786	1743/5685	581/1894	T	acG/acA	rs369889571,COSM5570176,COSM5570177	1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B				7/32		hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs369889571	.												T	2	4	92	132227590	132227590	C	T	1	0	0	0	0	0	0	0	1	12228	523	19	1		1	PLXNA4	7	132227590	Silent	SNP	C	C3N-02149_TP	3335049	132227590	27118383	245	30177											
STRA8	0	.	GRCh38	chr7	135246571	135246571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagcctccggcaggcctggGcgcagaagcaccgcggccct	6	3	14	18	4	0	1	0	0	0	1	1	1	1	1	6	4	2	3	6	4	1	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.601G>T	p.Ala201Ser	p.A201S	ENST00000275764	6/9	465	359	106	428	426	2	strelka-varscan-mutect	STRA8,missense_variant,p.Ala201Ser,ENST00000275764,NM_182489.1;RP11-260N14.1,non_coding_transcript_exon_variant,,ENST00000637483,;	T	ENST00000275764	Transcript	missense_variant	601/993	601/993	201/330	A/S	Gcg/Tcg		1		1	STRA8	HGNC	HGNC:30653	protein_coding	YES	CCDS5839.1	ENSP00000275764	Q7Z7C7		UPI00001A36D9	NM_182489.1	tolerated(1)		6/9		hmmpanther:PTHR35254																	MODERATE	1	SNV	1			1										PASS		rs1249509082	.												T	3	4	92	135246571	135246571	G	T	1	0	0	0	0	1	0	0	0	15704	1203	42	2		2	STRA8	7	135246571	Missense_Mutation	SNP	G	C3N-02149_TP	3018981	135246571	24099402	246	30178											
KLRG2	0	.	GRCh38	chr7	139483346	139483346	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccggggcagcttgaccaaGgcagggcccggtgacggcgg	6	5	18	12	4	0	2	0	2	0	0	1	2	1	2	3	7	1	3	3	7	1	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.297C>A	p.=	p.A99A	ENST00000340940	1/5	206	172	34	250	250	0	strelka-varscan-mutect	KLRG2,synonymous_variant,p.=,ENST00000340940,NM_198508.2;KLRG2,synonymous_variant,p.=,ENST00000393039,;	T	ENST00000340940	Transcript	synonymous_variant	367/2197	297/1230	99/409	A	gcC/gcA		1		-1	KLRG2	HGNC	HGNC:24778	protein_coding	YES	CCDS5854.1	ENSP00000339356	A4D1S0		UPI00001C0C37	NM_198508.2			1/5																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	139483346	139483346	G	T	1	0	0	0	0	0	0	0	1	8292	987	35	2		2	KLRG2	7	139483346	Silent	SNP	G	C3N-02149_TP	4236775	139483346	19862627	247	30179											
EPHB6	0	.	GRCh38	chr7	142864620	142864620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagccagaggaggatggaGtagggggccaggcaggaggc	11	2	21	7	0	0	2	0	0	0	2	0	6	0	6	2	8	1	2	2	8	1	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.820G>T	p.Val274Leu	p.V274L	ENST00000619012	7/20	93	77	16	66	66	0	strelka-varscan-mutect	EPHB6,missense_variant,p.Val274Leu,ENST00000619012,;EPHB6,missense_variant,p.Val274Leu,ENST00000422643,NM_004445.5;EPHB6,5_prime_UTR_variant,,ENST00000411471,NM_001280794.2,NM_001280795.2;EPHB6,downstream_gene_variant,,ENST00000497095,;EPHB6,missense_variant,p.Glu183Asp,ENST00000611578,;EPHB6,3_prime_UTR_variant,,ENST00000614832,;EPHB6,non_coding_transcript_exon_variant,,ENST00000616380,;EPHB6,upstream_gene_variant,,ENST00000486511,;	T	ENST00000619012	Transcript	missense_variant	1572/4011	820/3069	274/1022	V/L	Gta/Tta		1		1	EPHB6	HGNC	HGNC:3396	protein_coding	YES	CCDS5873.2	ENSP00000481994		F8WCM8	UPI0003EAF8C7		tolerated(1)		7/20		hmmpanther:PTHR24416:SF326,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666																	MODERATE	1	SNV	1			1										PASS		rs1263681604	.												T	3	4	92	142864620	142864620	G	T	1	0	0	0	0	1	0	0	0	5025	1029	36	2		2	EPHB6	7	142864620	Missense_Mutation	SNP	G	C3N-02149_TP	3381274	142864620	16481353	248	30180											
KEL	0	.	GRCh38	chr7	142954264	142954264	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcagaaactggaacaGccgtgaagtgatggagattg	12	7	15	7	1	1	4	1	2	0	2	1	6	1	5	2	3	3	0	2	3	3	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.844C>T	p.=	p.L282L	ENST00000355265	8/19	402	372	30	446	446	0	strelka-varscan-mutect	KEL,synonymous_variant,p.=,ENST00000355265,NM_000420.2;KEL,downstream_gene_variant,,ENST00000467543,;KEL,downstream_gene_variant,,ENST00000476829,;KEL,downstream_gene_variant,,ENST00000460479,;KEL,non_coding_transcript_exon_variant,,ENST00000479768,;KEL,downstream_gene_variant,,ENST00000494148,;	A	ENST00000355265	Transcript	synonymous_variant	1319/2812	844/2199	282/732	L	Ctg/Ttg		1		-1	KEL	HGNC	HGNC:6308	protein_coding	YES	CCDS34766.1	ENSP00000347409	P23276	A0A077QP03	UPI000000D923	NM_000420.2			8/19		hmmpanther:PTHR11733:SF128,hmmpanther:PTHR11733,Pfam_domain:PF05649,Gene3D:1r1hA02,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	142954264	142954264	G	A	1	0	0	0	0	0	0	0	1	8062	962	34	3		3	KEL	7	142954264	Silent	SNP	G	C3N-02149_TP	89644	142954264	16391709	249	30181											
TAS2R39	0	.	GRCh38	chr7	143184084	143184084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggattgtgactcctctgatCatgttcatcctgacagccac	8	12	9	12	0	3	3	2	3	1	0	5	4	5	4	3	1	1	1	3	1	0	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.666C>G	p.Ile222Met	p.I222M	ENST00000446620	1/1	374	322	52	465	465	0	strelka-varscan-mutect	TAS2R39,missense_variant,p.Ile222Met,ENST00000446620,NM_176881.2;	G	ENST00000446620	Transcript	missense_variant	666/1017	666/1017	222/338	I/M	atC/atG		1		1	TAS2R39	HGNC	HGNC:18886	protein_coding	YES	CCDS47729.1	ENSP00000405095	P59534		UPI00000620BE	NM_176881.2	deleterious(0.05)		1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF67,hmmpanther:PTHR11394,Pfam_domain:PF05296,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	92	143184084	143184084	C	G	1	0	0	0	0	1	0	0	0	15975	816	29	4		4	TAS2R39	7	143184084	Missense_Mutation	SNP	C	C3N-02149_TP	229820	143184084	16161889	250	30182											
CLCN1	0	.	GRCh38	chr7	143341938	143341938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcattctaggagcagcagCgctgactggtgccgtttccc	6	11	12	12	2	2	1	1	1	1	0	3	2	3	2	2	2	4	4	2	2	1	3	rs80356704		C3N-02149_TP	C3N-02149_NB	C	C																c.1592C>A	p.Ala531Glu	p.A531E	ENST00000343257	15/23	664	549	115	619	619	0	strelka-varscan-mutect	CLCN1,missense_variant,p.Ala531Glu,ENST00000343257,NM_000083.2;	A	ENST00000343257	Transcript	missense_variant	1679/3172	1592/2967	531/988	A/E	gCg/gAg	rs80356704,CM990364	1		1	CLCN1	HGNC	HGNC:2019	protein_coding	YES	CCDS5881.1	ENSP00000339867	P35523		UPI000020F1EC	NM_000083.2	deleterious(0)		15/23		Transmembrane_helices:TMhelix,hmmpanther:PTHR11689:SF29,hmmpanther:PTHR11689,Gene3D:1otsB00,Pfam_domain:PF00654,Superfamily_domains:SSF81340,Prints_domain:PR00762										pathogenic							MODERATE	1	SNV	1		1,1	1										PASS		rs80356704	.												A	3	1	92	143341938	143341938	C	A	1	0	0	0	0	1	0	0	0	3226	768	27	1		1	CLCN1	7	143341938	Missense_Mutation	SNP	C	C3N-02149_TP	157854	143341938	16004035	251	30183											
ARHGEF35	0	.	GRCh38	chr7	144187727	144187727	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctggggatgcaagagcccTtgactttcctgcagctcctc	6	11	10	14	0	0	2	0	1	0	1	4	3	3	3	4	2	4	3	4	2	1	2	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.657A>G	p.=	p.Q219Q	ENST00000378115	2/2	248	232	16	268	268	0	varscan-mutect	ARHGEF35,synonymous_variant,p.=,ENST00000378115,NM_001003702.2;CTAGE4,downstream_gene_variant,,ENST00000486333,NM_198495.2;	C	ENST00000378115	Transcript	synonymous_variant	787/2431	657/1455	219/484	Q	caA/caG		1		-1	ARHGEF35	HGNC	HGNC:33846	protein_coding	YES	CCDS34770.1	ENSP00000367355	A5YM69		UPI00002373BE	NM_001003702.2			2/2		Pfam_domain:PF15441,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF2,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	92	144187727	144187727	T	C	1	0	0	0	0	0	0	0	1	1039	1606	56	5		5	ARHGEF35	7	144187727	Silent	SNP	T	C3N-02149_TP	845789	144187727	15158246	252	30184											
OR2A1	0	.	GRCh38	chr7	144318564	144318564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcaccctggccgtcacttCctggacgtgtggctccctcc	4	10	9	18	2	2	0	2	0	0	0	5	1	5	1	5	3	0	1	5	3	0	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.440C>A	p.Ser147Tyr	p.S147Y	ENST00000408951	1/1	215	199	16	204	204	0	varscan-mutect	OR2A1,missense_variant,p.Ser147Tyr,ENST00000408951,NM_001005287.1;OR2A1-AS1,intron_variant,,ENST00000463561,;OR2A1-AS1,intron_variant,,ENST00000486094,;OR2A1-AS1,intron_variant,,ENST00000476560,;OR2A1-AS1,intron_variant,,ENST00000487102,;OR2A1-AS1,intron_variant,,ENST00000475089,;OR2A1-AS1,intron_variant,,ENST00000478806,;OR2A1-AS1,intron_variant,,ENST00000488041,;OR2A1-AS1,intron_variant,,ENST00000496968,;OR2A1-AS1,intron_variant,,ENST00000489488,;OR2A1-AS1,intron_variant,,ENST00000467944,;OR2A1-AS1,intron_variant,,ENST00000461843,;OR2A1-AS1,intron_variant,,ENST00000493539,;OR2A1-AS1,downstream_gene_variant,,ENST00000478925,;	A	ENST00000408951	Transcript	missense_variant	440/933	440/933	147/310	S/Y	tCc/tAc		1		1	OR2A1	HGNC	HGNC:8229	protein_coding	YES	CCDS43673.1	ENSP00000386175	Q8NGT9		UPI0000041DF3	NM_001005287.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF115,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		rs1433752498	.												A	3	1	92	144318564	144318564	C	A	1	0	0	0	0	1	0	0	0	11051	855	30	2		2	OR2A1	7	144318564	Missense_Mutation	SNP	C	C3N-02149_TP	130837	144318564	15027409	253	30185											
GIMAP8	0	.	GRCh38	chr7	150477608	150477608	+	Frame_Shift_Del	DEL	C	C	-																															caacaaagaaacaggccaggCccaggaaacccaggtgaaag																										C3N-02149_TP	C3N-02149_NB	C	C																c.1828delC	p.Gln610ArgfsTer5	p.Q610Rfs*5	ENST00000307271	5/5	352	290	62	430	430	0	sindel-varindel-pindel	GIMAP8,frameshift_variant,p.Gln610ArgfsTer5,ENST00000307271,NM_175571.3;	-	ENST00000307271	Transcript	frameshift_variant	2400/4184	1826/1998	609/665	A/X	gCc/gc	COSM1208183,COSM3635964	1		1	GIMAP8	HGNC	HGNC:21792	protein_coding	YES	CCDS34777.1	ENSP00000305107	Q8ND71	A0A090N8H2	UPI0000168646	NM_175571.3			5/5		PROSITE_profiles:PS51720,hmmpanther:PTHR10903:SF73,hmmpanther:PTHR10903,Gene3D:3.40.50.300,Pfam_domain:PF04548											1,1						HIGH	1	deletion	1	2	1,1	1										PASS		.	.												-	7	5	92	150477608	150477608	C	-	1	0	1	0	1	0	0	0	0	6265	739	26	0		0	GIMAP8	7	150477608	Frame_Shift_Del	DEL	C	C3N-02149_TP	6159044	150477608	8868365	254	30186											
NOS3	0	.	GRCh38	chr7	150999017	150999017	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgctgctgcaggccccAgatgatcccccagaactctt	7	8	8	18	0	1	3	0	1	1	2	2	3	2	3	6	1	4	3	6	1	1	1	rs780269670		C3N-02149_TP	C3N-02149_NB	A	A																c.888A>T	p.=	p.P296P	ENST00000297494	8/27	254	208	46	252	252	0	strelka-varscan-mutect	NOS3,synonymous_variant,p.=,ENST00000297494,NM_000603.4;NOS3,synonymous_variant,p.=,ENST00000461406,;NOS3,synonymous_variant,p.=,ENST00000484524,NM_001160111.1;NOS3,synonymous_variant,p.=,ENST00000467517,NM_001160109.1,NM_001160110.1;NOS3,upstream_gene_variant,,ENST00000460603,;	T	ENST00000297494	Transcript	synonymous_variant	1245/4388	888/3612	296/1203	P	ccA/ccT	rs780269670	1		1	NOS3	HGNC	HGNC:7876	protein_coding	YES	CCDS5912.1	ENSP00000297494	P29474		UPI000013E417	NM_000603.4			8/27		Low_complexity_(Seg):seg,Pfam_domain:PF02898,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512																	LOW	1	SNV	1			1										PASS		rs780269670	.												T	2	4	92	150999017	150999017	A	T	1	0	0	0	0	0	0	0	1	10589	175	7	4		4	NOS3	7	150999017	Silent	SNP	A	C3N-02149_TP	521409	150999017	8346956	255	30187											
XRCC2	0	.	GRCh38	chr7	152649279	152649279	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccaggccaccttctgatTtgggaagtatacatcgtgct	8	13	9	11	1	1	1	0	1	1	0	3	2	2	2	3	2	2	2	3	2	3	5	rs753457121		C3N-02149_TP	C3N-02149_NB	T	T																c.206A>T	p.Lys69Ile	p.K69I	ENST00000359321	3/3	185	159	26	222	222	0	strelka-varscan-mutect	XRCC2,missense_variant,p.Lys69Ile,ENST00000359321,NM_005431.1;XRCC2,non_coding_transcript_exon_variant,,ENST00000495707,;	A	ENST00000359321	Transcript	missense_variant	292/3067	206/843	69/280	K/I	aAa/aTa	rs753457121	1		-1	XRCC2	HGNC	HGNC:12829	protein_coding	YES	CCDS5933.1	ENSP00000352271	O43543		UPI000000D9C8	NM_005431.1	deleterious(0.03)		3/3		Gene3D:3.40.50.300,Pfam_domain:PF08423,PROSITE_profiles:PS50162,hmmpanther:PTHR22942,hmmpanther:PTHR22942:SF44,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs753457121	.												A	3	1	92	152649279	152649279	T	A	1	0	0	0	0	1	0	0	0	18012	1841	64	4		4	XRCC2	7	152649279	Missense_Mutation	SNP	T	C3N-02149_TP	1650262	152649279	6696694	256	30188											
PTPRN2	0	.	GRCh38	chr7	157595264	157595264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagtcagccacggtggcggGcagcggtccctgggtggcga	7	5	18	11	4	1	0	1	0	0	0	2	1	2	0	2	6	2	1	2	6	1	0	rs750506325		C3N-02149_TP	C3N-02149_NB	G	G																c.2470C>A	p.Pro824Thr	p.P824T	ENST00000389418	17/23	317	249	68	333	333	0	strelka-varscan-mutect	PTPRN2,missense_variant,p.Pro795Thr,ENST00000389413,NM_130843.2;PTPRN2,missense_variant,p.Pro786Thr,ENST00000409483,NM_001308267.1;PTPRN2,missense_variant,p.Pro824Thr,ENST00000389418,NM_001308268.1,NM_002847.3;PTPRN2,missense_variant,p.Pro807Thr,ENST00000389416,NM_130842.2;	T	ENST00000389418	Transcript	missense_variant	2480/4706	2470/3048	824/1015	P/T	Ccc/Acc	rs750506325	1		-1	PTPRN2	HGNC	HGNC:9677	protein_coding	YES	CCDS5947.1	ENSP00000374069	Q92932		UPI000002E7C7	NM_001308268.1,NM_002847.3	deleterious(0)		17/23		Gene3D:3.90.190.10,Pfam_domain:PF00102,Prints_domain:PR00700,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF266,SMART_domains:SM00194,Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1										PASS		rs750506325	.												T	3	4	92	157595264	157595264	G	T	1	0	0	0	0	1	0	0	0	12962	1203	42	2		2	PTPRN2	7	157595264	Missense_Mutation	SNP	G	C3N-02149_TP	4945985	157595264	1750709	257	30189											
DLGAP2	0	.	GRCh38	chr8	1697158	1697158	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccccaggaccccagcgcCatgccgaggccgacgtcgca	7	4	12	18	5	0	0	0	0	0	0	2	3	1	1	7	2	2	1	7	2	0	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2526C>A	p.=	p.A842A	ENST00000612087	10/11	44	29	15	54	54	0	strelka-varscan-mutect	DLGAP2,synonymous_variant,p.=,ENST00000612087,NM_001277161.1;DLGAP2,synonymous_variant,p.=,ENST00000520901,;DLGAP2,synonymous_variant,p.=,ENST00000637795,;DLGAP2,synonymous_variant,p.=,ENST00000421627,;DLGAP2,synonymous_variant,p.=,ENST00000637152,NM_004745.4;	A	ENST00000612087	Transcript	synonymous_variant	2660/10088	2526/2886	842/961	A	gcC/gcA		1		1	DLGAP2	HGNC	HGNC:2906	protein_coding	YES	CCDS75689.1	ENSP00000484215		H0YBY6	UPI0002B8CE71	NM_001277161.1			10/11		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3,Pfam_domain:PF03359																	LOW	1	SNV	5			1										PASS		rs1208403661	.												A	2	1	92	1697158	1697158	C	A	1	0	0	0	0	0	0	0	1	4367	581	21	2		2	DLGAP2	8	1697158	Silent	SNP	C	C3N-02149_TP		1697158	143441478	258	30190											
RP1L1	0	.	GRCh38	chr8	10612743	10612743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaggctgggctggcaCtgtcctggctgcatctctcc	3	11	14	13	0	1	0	0	0	1	0	4	1	3	1	2	5	2	6	2	5	0	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1355G>C	p.Ser452Thr	p.S452T	ENST00000382483	4/4	118	96	22	109	109	0	strelka-varscan-mutect	RP1L1,missense_variant,p.Ser452Thr,ENST00000382483,NM_178857.5;	G	ENST00000382483	Transcript	missense_variant	1579/7973	1355/7203	452/2400	S/T	aGt/aCt		1		-1	RP1L1	HGNC	HGNC:15946	protein_coding	YES	CCDS43708.1	ENSP00000371923		A6NKC6	UPI00001AF9CC	NM_178857.5	deleterious(0.04)		4/4		hmmpanther:PTHR23005,hmmpanther:PTHR23005:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	10612743	10612743	C	G	1	0	0	0	0	1	0	0	0	13773	565	20	4		4	RP1L1	8	10612743	Missense_Mutation	SNP	C	C3N-02149_TP	8915585	10612743	134525893	259	30191											
SGCZ	0	.	GRCh38	chr8	14237672	14237672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagactgtaagaccagcGgactatcctgggaaacatgt	12	9	11	9	1	1	2	1	0	0	2	2	4	2	4	2	2	2	1	2	2	3	2	rs528398080		C3N-02149_TP	C3N-02149_NB	G	G																c.344C>A	p.Pro115Gln	p.P115Q	ENST00000382080	4/8	145	118	27	202	202	0	strelka-varscan-mutect	SGCZ,missense_variant,p.Pro115Gln,ENST00000382080,NM_139167.2;SGCZ,missense_variant,p.Pro68Gln,ENST00000421524,;	T	ENST00000382080	Transcript	missense_variant	1060/2234	344/939	115/312	P/Q	cCg/cAg	rs528398080,COSM3319473,COSM5699440	1		-1	SGCZ	HGNC	HGNC:14075	protein_coding	YES	CCDS5992.2	ENSP00000371512	Q96LD1		UPI00002339F6	NM_139167.2	deleterious(0.01)		4/8		Pfam_domain:PF04790,hmmpanther:PTHR12939,hmmpanther:PTHR12939:SF5											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs528398080	.												T	3	4	92	14237672	14237672	G	T	1	0	0	0	0	1	0	0	0	14464	1116	39	1		1	SGCZ	8	14237672	Missense_Mutation	SNP	G	C3N-02149_TP	3624929	14237672	130900964	260	30192											
ANK1	0	.	GRCh38	chr8	41668296	41668296	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgggtgaaggtgttcttggCctcctgcacctgctcttctt	3	16	11	11	0	3	1	0	1	3	0	4	1	4	1	3	3	2	3	3	3	1	5	rs753132695		C3N-02149_TP	C3N-02149_NB	C	C																c.5488G>T	p.Ala1830Ser	p.A1830S	ENST00000265709	40/43	261	199	62	353	353	0	strelka-varscan-mutect	ANK1,missense_variant,p.Ala1789Ser,ENST00000289734,NM_000037.3;ANK1,missense_variant,p.Ala1789Ser,ENST00000347528,NM_020476.2,NM_020475.2,NM_020477.2;ANK1,missense_variant,p.Ala1830Ser,ENST00000265709,NM_001142446.1;ANK1,missense_variant,p.Ala949Ser,ENST00000520299,;ANK1,upstream_gene_variant,,ENST00000314214,NM_020478.4;ANK1,upstream_gene_variant,,ENST00000522543,NM_001142445.1;ANK1,upstream_gene_variant,,ENST00000522231,;ANK1,upstream_gene_variant,,ENST00000348036,NM_020480.4;ANK1,upstream_gene_variant,,ENST00000335651,;RP11-930P14.1,downstream_gene_variant,,ENST00000522388,;RP11-930P14.1,downstream_gene_variant,,ENST00000520418,;RP11-930P14.1,downstream_gene_variant,,ENST00000585088,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,downstream_gene_variant,,ENST00000518061,;ANK1,upstream_gene_variant,,ENST00000518715,;	A	ENST00000265709	Transcript	missense_variant	5770/6379	5488/5694	1830/1897	A/S	Gcc/Tcc	rs753132695	1		-1	ANK1	HGNC	HGNC:492	protein_coding	YES	CCDS47849.1	ENSP00000265709	P16157		UPI0000E4453A	NM_001142446.1	tolerated_low_confidence(0.38)		40/43		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF20,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs753132695	.												A	3	1	92	41668296	41668296	C	A	1	0	0	0	0	1	0	0	0	720	739	26	2		2	ANK1	8	41668296	Missense_Mutation	SNP	C	C3N-02149_TP	27430624	41668296	103470340	261	30193											
PRKDC	0	.	GRCh38	chr8	47799288	47799288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaagcatcaatcaccccagCtgcaggcccacagctccagg	11	5	9	16	0	2	0	2	0	0	0	3	0	3	0	4	2	4	5	4	2	2	1	rs55753561		C3N-02149_TP	C3N-02149_NB	C	C																c.10219G>A	p.Ala3407Thr	p.A3407T	ENST00000314191	72/86	159	145	14	196	196	0	strelka-varscan-mutect	PRKDC,missense_variant,p.Ala3407Thr,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Ala3407Thr,ENST00000338368,NM_001081640.1;	T	ENST00000314191	Transcript	missense_variant	10276/13509	10219/12387	3407/4128	A/T	Gct/Act	rs55753561	1		-1	PRKDC	HGNC	HGNC:9413	protein_coding	YES	CCDS75735.1	ENSP00000313420	P78527		UPI0000013593	NM_006904.6	tolerated(0.15)		72/86		PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF68,Pfam_domain:PF02259																	MODERATE	1	SNV	1			1										PASS		rs55753561	.												T	3	4	92	47799288	47799288	C	T	1	0	0	0	0	1	0	0	0	12654	797	28	3		3	PRKDC	8	47799288	Missense_Mutation	SNP	C	C3N-02149_TP	6130992	47799288	97339348	262	30194											
SNTG1	0	.	GRCh38	chr8	50449727	50449727	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctccaaggaacaaagaggTaatatgtttagagaattgtg	16	11	10	4	0	1	2	0	0	1	2	2	4	1	3	1	2	1	2	1	2	7	5	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.277+2T>A		p.X93_splice	ENST00000522124		77	62	15	93	93	0	strelka-varscan-mutect	SNTG1,splice_donor_variant,,ENST00000522124,NM_018967.3;SNTG1,splice_donor_variant,,ENST00000518864,NM_001287813.1;SNTG1,splice_donor_variant,,ENST00000517473,NM_001287814.1;SNTG1,downstream_gene_variant,,ENST00000523085,;SNTG1,splice_donor_variant,,ENST00000520825,;	A	ENST00000522124	Transcript	splice_donor_variant	-/3504	277/1554	93/517				1		1	SNTG1	HGNC	HGNC:13740	protein_coding	YES	CCDS6147.1	ENSP00000429842	Q9NSN8	A0A024R7Y0	UPI000004A0DD	NM_018967.3				6/18																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	92	50449727	50449727	T	A	1	0	0	0	0	0	0	1	0	15194	1652	57	4		4	SNTG1	8	50449727	Splice_Site	SNP	T	C3N-02149_TP	2650439	50449727	94688909	263	30195											
PXDNL	0	.	GRCh38	chr8	51408578	51408578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaccttaggcagccagtGgctgtaggtgatgtgctgca	8	9	15	9	0	0	1	0	1	0	0	0	2	0	2	2	4	3	5	2	4	2	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.3046C>T	p.His1016Tyr	p.H1016Y	ENST00000356297	17/23	248	219	29	305	305	0	strelka-varscan-mutect	PXDNL,missense_variant,p.His1016Tyr,ENST00000356297,NM_144651.4;PXDNL,missense_variant,p.His135Tyr,ENST00000522933,;PXDNL,missense_variant,p.His282Tyr,ENST00000522628,;	A	ENST00000356297	Transcript	missense_variant	3147/4805	3046/4392	1016/1463	H/Y	Cac/Tac		1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4	deleterious(0)		17/23		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	51408578	51408578	G	A	1	0	0	0	0	1	0	0	0	13002	1348	47	3		3	PXDNL	8	51408578	Missense_Mutation	SNP	G	C3N-02149_TP	958851	51408578	93730058	264	30196											
XKR4	0	.	GRCh38	chr8	55102686	55102686	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgctcgcgctgctgctgCtgctgcgccgggagtggcgg	1	8	19	13	5	0	0	0	0	0	0	1	1	0	1	1	4	6	7	1	4	0	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.198C>A	p.Cys66Ter	p.C66*	ENST00000327381	1/3	31	26	5	38	38	0	strelka-varscan-mutect	XKR4,stop_gained,p.Cys66Ter,ENST00000327381,NM_052898.1;XKR4,stop_gained,p.Cys66Ter,ENST00000622811,;	A	ENST00000327381	Transcript	stop_gained	298/19880	198/1953	66/650	C/*	tgC/tgA		1		1	XKR4	HGNC	HGNC:29394	protein_coding	YES	CCDS34893.1	ENSP00000328326	Q5GH76		UPI000016098C	NM_052898.1			1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF14																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	92	55102686	55102686	C	A	1	0	0	0	0	0	1	0	0	17992	805	28	2		2	XKR4	8	55102686	Nonsense_Mutation	SNP	C	C3N-02149_TP	3694108	55102686	90035950	265	30197											
TGS1	0	.	GRCh38	chr8	55786418	55786418	+	Frame_Shift_Del	DEL	A	A	-																															gaacatatgaacttcaaagcAaaaaagatactgagacagaa																								novel		C3N-02149_TP	C3N-02149_NB	A	A																c.525delA	p.Asp176IlefsTer17	p.D176Ifs*17	ENST00000260129	4/13	202	185	17	213	213	0	sindel-varindel-pindel	TGS1,frameshift_variant,p.Asp176IlefsTer17,ENST00000260129,NM_024831.6;TGS1,3_prime_UTR_variant,,ENST00000523948,;TGS1,upstream_gene_variant,,ENST00000519494,;	-	ENST00000260129	Transcript	frameshift_variant	997/3782	520/2562	174/853	K/X	Aaa/aa		1		1	TGS1	HGNC	HGNC:17843	protein_coding	YES	CCDS34894.1	ENSP00000260129	Q96RS0		UPI0000DBEF24	NM_024831.6			4/13		hmmpanther:PTHR14741,hmmpanther:PTHR14741:SF32																	HIGH	1	deletion	1	5		1										PASS		.	.												-	7	5	92	55786418	55786418	A	-	1	0	1	0	1	0	0	0	0	16270	131	5	0		0	TGS1	8	55786418	Frame_Shift_Del	DEL	A	C3N-02149_TP	683732	55786418	89352218	266	30198											
DNAJC5B	0	.	GRCh38	chr8	66099998	66099998	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaaaacacagctaatcaaAgaaggatctcgaagttattg	18	8	9	6	1	2	2	1	0	1	2	3	5	2	3	0	1	2	2	0	1	7	3	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.567A>T	p.Lys189Asn	p.K189N	ENST00000276570	6/6	157	140	17	232	232	0	strelka-varscan-mutect	DNAJC5B,missense_variant,p.Lys189Asn,ENST00000276570,NM_033105.4;DNAJC5B,non_coding_transcript_exon_variant,,ENST00000519330,;	T	ENST00000276570	Transcript	missense_variant	854/1382	567/600	189/199	K/N	aaA/aaT		1		1	DNAJC5B	HGNC	HGNC:24138	protein_coding	YES	CCDS6183.1	ENSP00000276570	Q9UF47	A0A024R7Z1	UPI0000050F10	NM_033105.4	tolerated_low_confidence(0.23)		6/6																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	66099998	66099998	A	T	1	0	0	0	0	1	0	0	0	4464	69	3	4		4	DNAJC5B	8	66099998	Missense_Mutation	SNP	A	C3N-02149_TP	10313580	66099998	79038638	267	30199											
SLCO5A1	0	.	GRCh38	chr8	69832103	69832103	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggggccgccgaccccGgccgccgaagtagctgacga	8	2	14	17	6	0	1	0	1	0	0	0	4	0	1	7	3	1	2	7	3	2	1	rs760891283		C3N-02149_TP	C3N-02149_NB	G	G																c.571C>A	p.=	p.R191R	ENST00000260126	2/10	330	266	64	357	357	0	strelka-varscan-mutect	SLCO5A1,synonymous_variant,p.=,ENST00000260126,NM_030958.2;SLCO5A1,synonymous_variant,p.=,ENST00000524945,NM_001146008.1;SLCO5A1,synonymous_variant,p.=,ENST00000530307,NM_001146009.1;RP11-159H10.3,upstream_gene_variant,,ENST00000528800,;RP11-159H10.3,upstream_gene_variant,,ENST00000501104,;RP11-159H10.3,upstream_gene_variant,,ENST00000533300,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000528658,;SLCO5A1,downstream_gene_variant,,ENST00000531422,;SLCO5A1,downstream_gene_variant,,ENST00000524703,;SLCO5A1,synonymous_variant,p.=,ENST00000526750,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000532388,;	T	ENST00000260126	Transcript	synonymous_variant	1278/9076	571/2547	191/848	R	Cgg/Agg	rs760891283	1		-1	SLCO5A1	HGNC	HGNC:19046	protein_coding	YES	CCDS6205.1	ENSP00000260126	Q9H2Y9		UPI0000140F53	NM_030958.2			2/10		PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF91,Pfam_domain:PF03137,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00805,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		rs760891283	.												T	2	4	92	69832103	69832103	G	T	1	0	0	0	0	0	0	0	1	15018	1115	39	1		1	SLCO5A1	8	69832103	Silent	SNP	G	C3N-02149_TP	3732105	69832103	75306533	268	30200											
TCEB1	0	.	GRCh38	chr8	73946808	73946808	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctcattggtttcgttcTcagcaaactgacctgtaaaa	11	13	7	10	1	2	2	2	2	1	0	4	2	2	2	2	1	2	4	2	1	3	4	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.161A>T	p.Glu54Val	p.E54V	ENST00000622804	5/5	92	81	11	119	119	0	strelka-varscan-mutect	TCEB1,missense_variant,p.Glu54Val,ENST00000622804,NM_001204862.1;TCEB1,missense_variant,p.Glu54Val,ENST00000518127,NM_001204860.1,NM_001204857.1;TCEB1,missense_variant,p.Glu54Val,ENST00000520242,NM_001204858.1,NM_005648.3,NM_001204859.1;TCEB1,missense_variant,p.Glu38Val,ENST00000520210,NM_001204864.1,NM_001204863.1;TCEB1,missense_variant,p.Glu54Val,ENST00000522337,;TCEB1,missense_variant,p.Glu54Val,ENST00000519487,;TCEB1,missense_variant,p.Glu54Val,ENST00000523815,NM_001204861.1;TCEB1,missense_variant,p.Glu54Val,ENST00000284811,;TCEB1,missense_variant,p.Glu54Val,ENST00000519082,;TCEB1,intron_variant,,ENST00000602840,;	A	ENST00000622804	Transcript	missense_variant	306/1976	161/339	54/112	E/V	gAg/gTg		1		-1	TCEB1	HGNC	HGNC:11617	protein_coding	YES	CCDS34910.1	ENSP00000478121	Q15369	A0A024R7Y5	UPI000002921A	NM_001204862.1	deleterious(0.01)		5/5		hmmpanther:PTHR20648,Gene3D:3.30.710.10,Pfam_domain:PF03931,SMART_domains:SM00512,Superfamily_domains:SSF54695																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	92	73946808	73946808	T	A	1	0	0	0	0	1	0	0	0	16086	1551	54	4		4	TCEB1	8	73946808	Missense_Mutation	SNP	T	C3N-02149_TP	4114705	73946808	71191828	269	30201											
PMP2	0	.	GRCh38	chr8	81444934	81444934	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatatctcctttcttgctGatgatcacagtgggtttggc	8	16	9	8	0	3	2	1	2	2	0	4	2	3	2	1	2	1	2	1	2	2	5	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.129C>A	p.=	p.I43I	ENST00000256103	2/4	187	167	20	235	235	0	strelka-varscan-mutect	PMP2,synonymous_variant,p.=,ENST00000256103,NM_002677.3;PMP2,intron_variant,,ENST00000519260,;RP11-157I4.4,intron_variant,,ENST00000524085,;	T	ENST00000256103	Transcript	synonymous_variant	266/3608	129/399	43/132	I	atC/atA		1		-1	PMP2	HGNC	HGNC:9117	protein_coding	YES	CCDS6229.1	ENSP00000256103	P02689		UPI000013CEEB	NM_002677.3			2/4		hmmpanther:PTHR11955:SF64,hmmpanther:PTHR11955,Gene3D:2.40.128.20,Pfam_domain:PF00061,Superfamily_domains:SSF50814																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	81444934	81444934	G	T	1	0	0	0	0	0	0	0	1	12245	1280	45	2		2	PMP2	8	81444934	Silent	SNP	G	C3N-02149_TP	7498126	81444934	63693702	270	30202											
SDC2	0	.	GRCh38	chr8	96608361	96608361	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaaactgataaagagaaAgttcacctctctgactcaga	17	8	8	8	0	3	5	2	2	1	3	4	7	3	5	1	0	1	1	1	0	5	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.333A>T	p.Lys111Asn	p.K111N	ENST00000302190	4/5	188	170	18	209	209	0	strelka-varscan-mutect	SDC2,missense_variant,p.Lys111Asn,ENST00000302190,NM_002998.3;SDC2,missense_variant,p.Lys75Asn,ENST00000518385,;SDC2,missense_variant,p.Lys82Asn,ENST00000519914,;SDC2,missense_variant,p.Lys82Asn,ENST00000522911,;SDC2,missense_variant,p.Lys82Asn,ENST00000523877,;SDC2,missense_variant,p.Lys82Asn,ENST00000521590,;	T	ENST00000302190	Transcript	missense_variant	1254/3759	333/606	111/201	K/N	aaA/aaT		1		1	SDC2	HGNC	HGNC:10659	protein_coding	YES	CCDS6272.1	ENSP00000307046	P34741	A0A024R9D1	UPI000013E7A4	NM_002998.3	tolerated(0.38)		4/5		hmmpanther:PTHR10915,hmmpanther:PTHR10915:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	96608361	96608361	A	T	1	0	0	0	0	1	0	0	0	14224	69	3	4		4	SDC2	8	96608361	Missense_Mutation	SNP	A	C3N-02149_TP	15163427	96608361	48530275	271	30203											
RIMS2	0	.	GRCh38	chr8	103989359	103989359	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actatgaccggacattataaTacaattagccgaatggacag	16	9	8	8	2	0	1	0	1	0	0	0	4	0	3	2	2	2	0	2	2	7	5	rs766062874		C3N-02149_TP	C3N-02149_NB	T	T																c.2982T>C	p.=	p.N994N	ENST00000504942	17/24	287	260	27	348	348	0	strelka-varscan-mutect	RIMS2,synonymous_variant,p.=,ENST00000507740,NM_014677.4;RIMS2,synonymous_variant,p.=,ENST00000436393,;RIMS2,synonymous_variant,p.=,ENST00000504942,NM_001100117.2;RIMS2,synonymous_variant,p.=,ENST00000626043,;RIMS2,synonymous_variant,p.=,ENST00000408894,;RIMS2,synonymous_variant,p.=,ENST00000262231,NM_001282881.1;RIMS2,synonymous_variant,p.=,ENST00000632716,;	C	ENST00000504942	Transcript	synonymous_variant	3121/4228	2982/4050	994/1349	N	aaT/aaC	rs766062874,COSM4640823,COSM4640824,COSM4640825,COSM4640826,COSM4640827	1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2			17/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15											0,1,1,1,1,1						LOW	1	SNV	2		0,1,1,1,1,1	1										PASS		rs766062874	.												C	2	2	92	103989359	103989359	T	C	1	0	0	0	0	0	0	0	1	13543	1403	49	5		5	RIMS2	8	103989359	Silent	SNP	T	C3N-02149_TP	7380998	103989359	41149277	272	30204											
CSMD3	0	.	GRCh38	chr8	112638759	112638759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaaatgaaacgcaattgagCcctgaaatttccatagagac	16	9	8	8	1	0	5	0	4	0	1	1	6	1	5	2	0	2	1	2	0	5	3	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.3463G>A	p.Ala1155Thr	p.A1155T	ENST00000297405	21/71	496	418	78	575	575	0	strelka-varscan-mutect	CSMD3,missense_variant,p.Ala1155Thr,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Ala1115Thr,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Ala1051Thr,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Ala495Thr,ENST00000339701,;MIR2053,upstream_gene_variant,,ENST00000459295,;	T	ENST00000297405	Transcript	missense_variant	3708/13212	3463/11124	1155/3707	A/T	Gct/Act		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0.05)		21/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	112638759	112638759	C	T	1	0	0	0	0	1	0	0	0	3747	739	26	3		3	CSMD3	8	112638759	Missense_Mutation	SNP	C	C3N-02149_TP	8649400	112638759	32499877	273	30205											
NSMCE2	0	.	GRCh38	chr8	125357814	125357814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaaaagcggaagaaaaagGcctagtgagtggacgcaggg	15	3	17	6	2	0	2	0	1	0	1	0	4	0	4	1	5	1	2	1	5	6	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.622G>T	p.Ala208Ser	p.A208S	ENST00000287437	7/8	264	218	46	260	260	0	strelka-varscan-mutect	NSMCE2,missense_variant,p.Ala208Ser,ENST00000287437,NM_173685.2;NSMCE2,missense_variant,p.Ala208Ser,ENST00000522563,;NSMCE2,missense_variant,p.Ala148Ser,ENST00000517315,;NSMCE2,downstream_gene_variant,,ENST00000517532,;	T	ENST00000287437	Transcript	missense_variant	838/1195	622/744	208/247	A/S	Gcc/Tcc		1		1	NSMCE2	HGNC	HGNC:26513	protein_coding	YES	CCDS6356.1	ENSP00000287437	Q96MF7	A0A024R9J6	UPI0000039EC8	NM_173685.2	tolerated(0.06)		7/8		PROSITE_profiles:PS51044,hmmpanther:PTHR21330,hmmpanther:PTHR21330:SF1,Pfam_domain:PF11789,Gene3D:3.30.40.10,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		rs1380066503	.												T	3	4	92	125357814	125357814	G	T	1	0	0	0	0	1	0	0	0	10736	1217	42	2		2	NSMCE2	8	125357814	Missense_Mutation	SNP	G	C3N-02149_TP	12719055	125357814	19780822	274	30206											
MYC	0	.	GRCh38	chr8	127738759	127738759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcccgaaccccgcccGcggccacagcgtctgctcca	6	3	11	21	6	1	0	0	0	1	0	2	1	2	0	6	2	4	2	6	2	1	0			C3N-02149_TP	C3N-02149_NB	G	G																c.542G>T	p.Arg181Leu	p.R181L	ENST00000621592	2/3	114	98	16	95	95	0	strelka-varscan-mutect	MYC,missense_variant,p.Arg181Leu,ENST00000621592,NM_002467.4;MYC,missense_variant,p.Arg181Leu,ENST00000613283,;MYC,missense_variant,p.Arg166Leu,ENST00000377970,;MYC,missense_variant,p.Arg180Leu,ENST00000524013,;MYC,missense_variant,p.Arg166Leu,ENST00000259523,;MYC,missense_variant,p.Arg180Leu,ENST00000517291,;MYC,downstream_gene_variant,,ENST00000520751,;CASC11,upstream_gene_variant,,ENST00000502463,;CASC11,upstream_gene_variant,,ENST00000518376,;CASC11,upstream_gene_variant,,ENST00000519071,;	T	ENST00000621592	Transcript	missense_variant	1067/2366	542/1365	181/454	R/L	cGc/cTc	COSM4006841,COSM4006842	1		1	MYC	HGNC	HGNC:7553	protein_coding	YES	CCDS6359.2	ENSP00000478887		A0A087WUS5	UPI0000D624FF	NM_002467.4	tolerated(0.31)		2/3		hmmpanther:PTHR11514,hmmpanther:PTHR11514:SF2,Pfam_domain:PF01056,PIRSF_domain:PIRSF001705											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1328542776	.												T	3	4	92	127738759	127738759	G	T	1	0	0	0	0	1	0	0	0	10016	1087	38	1		1	MYC	8	127738759	Missense_Mutation	SNP	G	C3N-02149_TP	2380945	127738759	17399877	275	30207											
ZFAT	0	.	GRCh38	chr8	134512483	134512483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcgtcctcaccactctcaGaggtgtatctcaggtcctgg	7	10	11	13	1	3	1	3	0	2	1	7	1	5	1	3	4	0	1	3	4	1	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.3353C>T	p.Ser1118Phe	p.S1118F	ENST00000377838	14/16	144	128	16	157	157	0	strelka-varscan-mutect	ZFAT,missense_variant,p.Ser1106Phe,ENST00000520727,NM_001029939.3,NM_001289394.1;ZFAT,missense_variant,p.Ser1118Phe,ENST00000377838,NM_020863.3;ZFAT,missense_variant,p.Ser1106Phe,ENST00000429442,;ZFAT,missense_variant,p.Ser1106Phe,ENST00000520214,NM_001167583.2;ZFAT,missense_variant,p.Ser1056Phe,ENST00000523399,NM_001174157.1;ZFAT,intron_variant,,ENST00000520356,NM_001174158.1;ZFAT,upstream_gene_variant,,ENST00000521673,;ZFAT,downstream_gene_variant,,ENST00000517307,;ZFAT,upstream_gene_variant,,ENST00000522723,;ZFAT,3_prime_UTR_variant,,ENST00000523243,;ZFAT,3_prime_UTR_variant,,ENST00000523924,;ZFAT,non_coding_transcript_exon_variant,,ENST00000518408,;	A	ENST00000377838	Transcript	missense_variant	3528/4597	3353/3732	1118/1243	S/F	tCt/tTt		1		-1	ZFAT	HGNC	HGNC:19899	protein_coding	YES	CCDS47924.1	ENSP00000367069	Q9P243		UPI0000210061	NM_020863.3	deleterious(0.01)		14/16																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	134512483	134512483	G	A	1	0	0	0	0	1	0	0	0	18209	942	33	3		3	ZFAT	8	134512483	Missense_Mutation	SNP	G	C3N-02149_TP	6773724	134512483	10626153	276	30208											
GML	0	.	GRCh38	chr8	142841206	142841206	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgtatcatattaggcgCtgtatgacaatctccattcg	9	14	8	10	3	2	1	1	1	1	0	5	1	3	1	2	1	0	3	2	1	5	5	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.162C>A	p.=	p.R54R	ENST00000220940	3/4	180	161	19	205	205	0	strelka-varscan-mutect	GML,synonymous_variant,p.=,ENST00000220940,NM_002066.2;GML,synonymous_variant,p.=,ENST00000522728,;	A	ENST00000220940	Transcript	synonymous_variant	252/723	162/477	54/158	R	cgC/cgA		1		1	GML	HGNC	HGNC:4375	protein_coding	YES	CCDS6391.1	ENSP00000220940	Q99445		UPI000012B8B1	NM_002066.2			3/4		hmmpanther:PTHR15049,hmmpanther:PTHR15049:SF2,PROSITE_patterns:PS00983,Gene3D:2.10.60.10,SMART_domains:SM00134,Superfamily_domains:SSF57302																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	142841206	142841206	C	A	1	0	0	0	0	0	0	0	1	6371	784	28	2		2	GML	8	142841206	Silent	SNP	C	C3N-02149_TP	8328723	142841206	2297430	277	30209											
WDR97	0	.	GRCh38	chr8	144115547	144115547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggcacccaagcgcagctgGgggacccctcagctccgtct	6	6	12	17	2	2	0	1	0	1	0	3	1	3	1	4	3	3	4	4	3	1	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.4284G>T	p.Trp1428Cys	p.W1428C	ENST00000323662	22/24	83	69	14	107	107	0	strelka-varscan-mutect	WDR97,missense_variant,p.Trp1428Cys,ENST00000323662,;WDR97,downstream_gene_variant,,ENST00000533108,;WDR97,3_prime_UTR_variant,,ENST00000534167,;WDR97,non_coding_transcript_exon_variant,,ENST00000528691,;WDR97,non_coding_transcript_exon_variant,,ENST00000525150,;WDR97,non_coding_transcript_exon_variant,,ENST00000529209,;	T	ENST00000323662	Transcript	missense_variant	4309/6916	4284/4869	1428/1622	W/C	tgG/tgT		1		1	WDR97	HGNC	HGNC:26959	protein_coding	YES		ENSP00000320648	A6NE52		UPI000173AA02		tolerated_low_confidence(0.2)		22/24																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	92	144115547	144115547	G	T	1	0	0	0	0	1	0	0	0	17897	1241	43	2		2	WDR97	8	144115547	Missense_Mutation	SNP	G	C3N-02149_TP	1274341	144115547	1023089	278	30210											
GLIS3	0	.	GRCh38	chr9	4118232	4118232	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcggggcccggcaggcCatgctgcaccaccatgtggt	5	7	15	14	2	0	0	0	0	0	0	1	0	0	0	4	5	2	4	4	5	0	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1246G>T	p.Gly416Cys	p.G416C	ENST00000381971	4/11	112	68	44	145	145	0	strelka-varscan-mutect	GLIS3,missense_variant,p.Gly261Cys,ENST00000324333,NM_152629.3;GLIS3,missense_variant,p.Gly416Cys,ENST00000381971,NM_001042413.1;GLIS3,downstream_gene_variant,,ENST00000477901,;GLIS3,downstream_gene_variant,,ENST00000481827,;GLIS3,downstream_gene_variant,,ENST00000462164,;GLIS3,downstream_gene_variant,,ENST00000478315,;GLIS3,downstream_gene_variant,,ENST00000478844,;GLIS3,downstream_gene_variant,,ENST00000490709,;GLIS3,downstream_gene_variant,,ENST00000473846,;GLIS3,upstream_gene_variant,,ENST00000467497,;GLIS3,downstream_gene_variant,,ENST00000491889,;	A	ENST00000381971	Transcript	missense_variant	1840/3961	1246/2793	416/930	G/C	Ggc/Tgc		1		-1	GLIS3	HGNC	HGNC:28510	protein_coding	YES	CCDS43784.1	ENSP00000371398	Q8NEA6		UPI0000DA4C5E	NM_001042413.1	tolerated(0.19)		4/11		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF83																	MODERATE	1	SNV	5			1										PASS		rs1161129948	.												A	3	1	92	4118232	4118232	C	A	1	0	0	0	0	1	0	0	0	6325	594	21	2		2	GLIS3	9	4118232	Missense_Mutation	SNP	C	C3N-02149_TP		4118232	134276485	279	30211											
BAG1	0	.	GRCh38	chr9	33258930	33258930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagagttacctgctggattCcagtaagctctttattcaac	11	13	8	9	0	2	1	1	0	1	1	3	3	3	2	2	1	4	4	2	1	4	6	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.767G>T	p.Gly256Val	p.G256V	ENST00000472232	4/7	206	192	14	196	195	1	strelka-mutect	BAG1,missense_variant,p.Gly256Val,ENST00000472232,NM_004323.5;BAG1,missense_variant,p.Gly256Val,ENST00000634734,;BAG1,missense_variant,p.Gly141Val,ENST00000379704,NM_001172415.1;BAG1,missense_variant,p.Gly147Val,ENST00000473781,;BAG1,missense_variant,p.Gly46Val,ENST00000473464,;BAG1,downstream_gene_variant,,ENST00000635077,;BAG1,downstream_gene_variant,,ENST00000488499,;BAG1,non_coding_transcript_exon_variant,,ENST00000467389,;BAG1,upstream_gene_variant,,ENST00000493917,;BAG1,3_prime_UTR_variant,,ENST00000379707,;BAG1,non_coding_transcript_exon_variant,,ENST00000379701,;BAG1,upstream_gene_variant,,ENST00000468274,;	A	ENST00000472232	Transcript	missense_variant	854/3867	767/1038	256/345	G/V	gGa/gTa		1		-1	BAG1	HGNC	HGNC:937	protein_coding	YES	CCDS35004.1	ENSP00000420514		J3QTA2	UPI000013C843	NM_004323.5	deleterious(0)		4/7		PROSITE_profiles:PS51035,hmmpanther:PTHR12329,hmmpanther:PTHR12329:SF16,Pfam_domain:PF02179,Gene3D:1.20.58.120,SMART_domains:SM00264,Superfamily_domains:SSF63491,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	33258930	33258930	C	A	1	0	0	0	0	1	0	0	0	1444	855	30	2		2	BAG1	9	33258930	Missense_Mutation	SNP	C	C3N-02149_TP	29140698	33258930	105135787	280	30212											
FAM205A	0	.	GRCh38	chr9	34726978	34726978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacttctctccagaggaaGccagccctggctaggaaggg	10	6	12	13	0	1	1	0	0	1	1	3	3	2	3	3	4	2	1	3	4	3	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.262C>A	p.Leu88Ile	p.L88I	ENST00000378788	4/4	129	85	44	121	121	0	strelka-varscan-mutect	FAM205A,missense_variant,p.Leu88Ile,ENST00000378788,NM_001141917.1;	T	ENST00000378788	Transcript	missense_variant	302/4225	262/4008	88/1335	L/I	Ctt/Att		1		-1	FAM205A	HGNC	HGNC:41911	protein_coding	YES	CCDS55305.1	ENSP00000417711	Q6ZU69		UPI00017EE92B	NM_001141917.1	tolerated(0.07)		4/4		hmmpanther:PTHR21859:SF15,hmmpanther:PTHR21859,Pfam_domain:PF15371																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	92	34726978	34726978	G	T	1	0	0	0	0	1	0	0	0	5386	971	34	2		2	FAM205A	9	34726978	Missense_Mutation	SNP	G	C3N-02149_TP	1468048	34726978	103667739	281	30213											
NTRK2	0	.	GRCh38	chr9	84727734	84727734	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtgaaaggcaaccccAaaccagcgcttcagtggttc	11	8	9	13	1	2	1	2	1	0	0	3	1	2	1	3	2	3	3	3	2	3	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.934A>T	p.Lys312Ter	p.K312*	ENST00000277120	9/19	305	244	61	463	463	0	strelka-varscan-mutect	NTRK2,stop_gained,p.Lys312Ter,ENST00000277120,;NTRK2,stop_gained,p.Lys312Ter,ENST00000304053,NM_001018065.2;NTRK2,stop_gained,p.Lys312Ter,ENST00000376208,NM_001018066.2;NTRK2,stop_gained,p.Lys312Ter,ENST00000395882,NM_001291937.1,NM_001007097.2;NTRK2,stop_gained,p.Lys312Ter,ENST00000359847,;NTRK2,stop_gained,p.Lys312Ter,ENST00000376214,NM_006180.4;NTRK2,stop_gained,p.Lys312Ter,ENST00000376213,;NTRK2,stop_gained,p.Lys312Ter,ENST00000323115,NM_001018064.2;	T	ENST00000277120	Transcript	stop_gained	1417/8633	934/2517	312/838	K/*	Aaa/Taa		1		1	NTRK2	HGNC	HGNC:8032	protein_coding	YES	CCDS6671.1	ENSP00000277120	Q16620	A0A024R230	UPI000006FA0D				9/19		Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF136,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	92	84727734	84727734	A	T	1	0	0	0	0	0	1	0	0	10773	131	5	4		4	NTRK2	9	84727734	Nonsense_Mutation	SNP	A	C3N-02149_TP	50000756	84727734	53666983	282	30214											
SPATA31E1	0	.	GRCh38	chr9	87885039	87885039	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaatgcatgcaagatccGtctcctgccagcttgtcccc	8	9	10	14	1	1	1	0	0	1	1	4	2	3	2	5	1	4	3	5	1	2	1	rs754824104		C3N-02149_TP	C3N-02149_NB	G	G																c.552G>T	p.=	p.P184P	ENST00000325643	4/4	274	225	49	317	317	0	strelka-varscan-mutect	SPATA31E1,synonymous_variant,p.=,ENST00000325643,NM_178828.4;	T	ENST00000325643	Transcript	synonymous_variant	618/4478	552/4338	184/1445	P	ccG/ccT	rs754824104,COSM5561783	1		1	SPATA31E1	HGNC	HGNC:26672	protein_coding	YES	CCDS6676.1	ENSP00000322640	Q6ZUB1		UPI000036764A	NM_178828.4			4/4		Pfam_domain:PF15371,hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF19,Low_complexity_(Seg):seg											0,1						LOW	1	SNV	1		0,1	1										PASS		rs754824104	.												T	2	4	92	87885039	87885039	G	T	1	0	0	0	0	0	0	0	1	15350	1132	40	1		1	SPATA31E1	9	87885039	Silent	SNP	G	C3N-02149_TP	3157305	87885039	50509678	283	30215											
MFSD14C	0	.	GRCh38	chr9	96949569	96949569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaccatgggctgatcctCatcagtgggattgggaagca	10	9	12	10	0	3	1	3	1	0	0	4	3	4	3	2	3	1	2	2	3	1	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.381G>T	p.Met127Ile	p.M127I	ENST00000602917	4/5	127	103	24	171	171	0	strelka-varscan-mutect	MFSD14C,missense_variant,p.Met127Ile,ENST00000637864,;MFSD14C,missense_variant,p.Met127Ile,ENST00000602917,;MFSD14C,missense_variant,p.Met127Ile,ENST00000375223,;MFSD14C,non_coding_transcript_exon_variant,,ENST00000506067,;MFSD14C,non_coding_transcript_exon_variant,,ENST00000637076,;MFSD14C,non_coding_transcript_exon_variant,,ENST00000637811,;MFSD14C,non_coding_transcript_exon_variant,,ENST00000637099,;	A	ENST00000602917	Transcript	missense_variant	595/786	381/453	127/150	M/I	atG/atT		1		-1	MFSD14C	HGNC	HGNC:23672	protein_coding	YES		ENSP00000473444		R4GN14	UPI00003745A2		deleterious(0.01)		4/5		PROSITE_profiles:PS50850,hmmpanther:PTHR23504,hmmpanther:PTHR23504:SF32,Pfam_domain:PF07690,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1170081413	.												A	3	1	92	96949569	96949569	C	A	1	0	0	0	0	1	0	0	0	9486	826	29	2		2	MFSD14C	9	96949569	Missense_Mutation	SNP	C	C3N-02149_TP	9064530	96949569	41445148	284	30216											
OR13C2	0	.	GRCh38	chr9	104605226	104605226	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggcatccttactcatgatGatgggatatctcagagggtt	10	13	11	7	0	2	3	2	2	1	1	4	4	3	4	1	3	1	2	1	3	3	4	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.402C>T	p.=	p.I134I	ENST00000542196	1/1	194	172	22	290	290	0	varscan-mutect	OR13C2,synonymous_variant,p.=,ENST00000542196,NM_001004481.1;	A	ENST00000542196	Transcript	synonymous_variant	402/957	402/957	134/318	I	atC/atT		1		-1	OR13C2	HGNC	HGNC:14701	protein_coding	YES	CCDS35092.1	ENSP00000438815	Q8NGS9	A0A126GWR7	UPI0000041B29	NM_001004481.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF279,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245																	LOW	1	SNV				1										PASS		.	.												A	2	1	92	104605226	104605226	G	A	1	0	0	0	0	0	0	0	1	11010	1280	45	3		3	OR13C2	9	104605226	Silent	SNP	G	C3N-02149_TP	7655657	104605226	33789491	285	30217											
OR13C9	0	.	GRCh38	chr9	104617803	104617803	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggcattcttgctcatgatGatgggatatctcagagggtt	9	14	12	6	0	3	3	2	2	2	1	4	4	3	4	0	3	1	3	0	3	2	5			C3N-02149_TP	C3N-02149_NB	G	G																c.402C>T	p.=	p.I134I	ENST00000259362	1/1	184	148	36	211	211	0	strelka-varscan-mutect	OR13C9,synonymous_variant,p.=,ENST00000259362,NM_001001956.1;	A	ENST00000259362	Transcript	synonymous_variant	402/957	402/957	134/318	I	atC/atT	COSM3847248	1		-1	OR13C9	HGNC	HGNC:15104	protein_coding	YES	CCDS35093.1	ENSP00000259362	Q8NGT0		UPI0000041D56	NM_001001956.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF23,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245											1						LOW	1	SNV			1	1										PASS		.	.												A	2	1	92	104617803	104617803	G	A	1	0	0	0	0	0	0	0	1	11015	1280	45	3		3	OR13C9	9	104617803	Silent	SNP	G	C3N-02149_TP	12577	104617803	33776914	286	30218											
TRAF1	0	.	GRCh38	chr9	120913609	120913609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggtctgacaggttctgctCcagggccatgggcccagact	7	8	13	13	0	2	2	0	1	2	1	3	2	3	2	3	4	1	2	3	4	0	1			C3N-02149_TP	C3N-02149_NB	C	C																c.424G>A	p.Glu142Lys	p.E142K	ENST00000373887	5/8	144	117	27	185	185	0	strelka-varscan-mutect	TRAF1,missense_variant,p.Glu142Lys,ENST00000373887,NM_005658.4;TRAF1,missense_variant,p.Glu142Lys,ENST00000540010,NM_001190945.1;TRAF1,missense_variant,p.Glu20Lys,ENST00000546084,NM_001190947.1;	T	ENST00000373887	Transcript	missense_variant	2870/6324	424/1251	142/416	E/K	Gag/Aag	COSM752830	1		-1	TRAF1	HGNC	HGNC:12031	protein_coding	YES	CCDS6825.1	ENSP00000362994	Q13077		UPI0000001079	NM_005658.4	tolerated(0.39)		5/8		PIRSF_domain:PIRSF015614,hmmpanther:PTHR10131,hmmpanther:PTHR10131:SF29											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	92	120913609	120913609	C	T	1	0	0	0	0	1	0	0	0	16920	864	30	3		3	TRAF1	9	120913609	Missense_Mutation	SNP	C	C3N-02149_TP	16295806	120913609	17481108	287	30219											
CRB2	0	.	GRCh38	chr9	123370676	123370676	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcatgagggctgcccTgcccggctctgtgtggcctc	2	10	14	15	1	2	1	0	1	2	0	3	1	2	1	3	4	2	3	3	4	0	0	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1623T>G	p.=	p.P541P	ENST00000373631	7/13	238	199	39	304	304	0	strelka-varscan-mutect	CRB2,synonymous_variant,p.=,ENST00000373631,NM_173689.6;CRB2,synonymous_variant,p.=,ENST00000359999,;CRB2,synonymous_variant,p.=,ENST00000460253,;	G	ENST00000373631	Transcript	synonymous_variant	1624/5550	1623/3858	541/1285	P	ccT/ccG		1		1	CRB2	HGNC	HGNC:18688	protein_coding	YES	CCDS6852.2	ENSP00000362734	Q5IJ48		UPI000022D9DE	NM_173689.6			7/13		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF1,SMART_domains:SM00282,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	92	123370676	123370676	T	G	1	0	0	0	0	0	0	0	1	3649	1567	55	5		5	CRB2	9	123370676	Silent	SNP	T	C3N-02149_TP	2457067	123370676	15024041	288	30220											
ANGPTL2	0	.	GRCh38	chr9	127089068	127089068	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatggcccccgcggtaccaGaccccgttgaggttggagtg	7	8	14	12	3	0	2	0	1	0	1	0	3	0	3	5	4	1	3	5	4	2	4	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1353C>A	p.=	p.V451V	ENST00000373425	5/5	434	395	39	579	579	0	strelka-varscan-mutect	ANGPTL2,synonymous_variant,p.=,ENST00000373425,NM_012098.2;ANGPTL2,synonymous_variant,p.=,ENST00000373417,;RALGPS1,intron_variant,,ENST00000259351,NM_014636.2;RALGPS1,intron_variant,,ENST00000373434,NM_001190728.1;RALGPS1,intron_variant,,ENST00000424082,NM_001322320.1,NM_001190729.1;RALGPS1,intron_variant,,ENST00000394022,;RALGPS1,intron_variant,,ENST00000373436,NM_001190730.1;	T	ENST00000373425	Transcript	synonymous_variant	1971/3707	1353/1482	451/493	V	gtC/gtA		1		-1	ANGPTL2	HGNC	HGNC:490	protein_coding	YES	CCDS6868.1	ENSP00000362524	Q9UKU9	A0A024R868	UPI0000049E07	NM_012098.2			5/5		PROSITE_profiles:PS51406,hmmpanther:PTHR19143:SF24,hmmpanther:PTHR19143,Gene3D:4.10.530.10,Pfam_domain:PF00147,SMART_domains:SM00186,Superfamily_domains:SSF56496																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	127089068	127089068	G	T	1	0	0	0	0	0	0	0	1	712	929	33	2		2	ANGPTL2	9	127089068	Silent	SNP	G	C3N-02149_TP	3718392	127089068	11305649	289	30221											
SLC27A4	0	.	GRCh38	chr9	128353416	128353416	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtcttggccttcgcaggTgggggcctgtggtttcaata	6	12	14	9	1	2	0	1	0	1	0	3	0	2	0	2	5	0	2	2	5	3	4	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1199T>G	p.Val400Gly	p.V400G	ENST00000300456	9/13	321	259	62	364	364	0	strelka-varscan-mutect	SLC27A4,missense_variant,p.Val400Gly,ENST00000300456,NM_005094.3;SLC27A4,intron_variant,,ENST00000372870,;	G	ENST00000300456	Transcript	missense_variant,splice_region_variant	1316/3028	1199/1932	400/643	V/G	gTg/gGg		1		1	SLC27A4	HGNC	HGNC:10998	protein_coding	YES	CCDS6899.1	ENSP00000300456	Q6P1M0	A0A024R8D2	UPI0000038E80	NM_005094.3	deleterious(0)		9/13		Pfam_domain:PF00501,hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF145,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	128353416	128353416	T	G	1	0	0	0	0	1	0	0	0	14798	1710	59	5		5	SLC27A4	9	128353416	Missense_Mutation	SNP	T	C3N-02149_TP	1264348	128353416	10041301	290	30222											
QSOX2	0	.	GRCh38	chr9	136245629	136245629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacccacacggcgtcctcgcCcgcgcggtacagccgcgccg	5	3	12	21	9	0	0	0	0	0	0	2	0	1	0	5	2	2	1	5	2	1	1			C3N-02149_TP	C3N-02149_NB	C	C																c.175G>T	p.Gly59Cys	p.G59C	ENST00000358701	1/12	95	77	18	196	196	0	strelka-varscan-mutect	QSOX2,missense_variant,p.Gly59Cys,ENST00000358701,NM_181701.3;CR392000.1,upstream_gene_variant,,ENST00000624770,;WI2-1959D15.1,downstream_gene_variant,,ENST00000584807,;	A	ENST00000358701	Transcript	missense_variant	213/4530	175/2097	59/698	G/C	Ggc/Tgc	COSM5698047	1		-1	QSOX2	HGNC	HGNC:30249	protein_coding	YES	CCDS35178.1	ENSP00000351536	Q6ZRP7		UPI00004A7AC1	NM_181701.3	deleterious(0.03)		1/12		PROSITE_profiles:PS51352,hmmpanther:PTHR22897,hmmpanther:PTHR22897:SF7,Low_complexity_(Seg):seg,Superfamily_domains:SSF52833											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	92	136245629	136245629	C	A	1	0	0	0	0	1	0	0	0	13039	623	22	2		2	QSOX2	9	136245629	Missense_Mutation	SNP	C	C3N-02149_TP	7892213	136245629	2149088	291	30223											
FAM166A	0	.	GRCh38	chr9	137245192	137245192	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcggcgggcggggggtggGtactcatccctctggcagtg	3	8	20	10	3	2	0	1	0	1	0	3	0	3	0	1	8	1	2	1	8	1	1	rs760075142		C3N-02149_TP	C3N-02149_NB	G	G																c.549C>A	p.Tyr183Ter	p.Y183*	ENST00000344774	4/7	45	41	4	53	53	0	varscan-mutect	FAM166A,stop_gained,p.Tyr183Ter,ENST00000344774,NM_001001710.2;FAM166A,stop_gained,p.Tyr210Ter,ENST00000484720,;TUBB4B,downstream_gene_variant,,ENST00000340384,NM_006088.5;FAM166A,non_coding_transcript_exon_variant,,ENST00000471784,;TUBB4B,downstream_gene_variant,,ENST00000604929,;	T	ENST00000344774	Transcript	stop_gained	604/1124	549/954	183/317	Y/*	taC/taA	rs760075142	1		-1	FAM166A	HGNC	HGNC:33818	protein_coding	YES	CCDS35186.1	ENSP00000344729	Q6J272		UPI00003775FA	NM_001001710.2			4/7		hmmpanther:PTHR22146,hmmpanther:PTHR22146:SF5																	HIGH	1	SNV	1			1										PASS		rs760075142	.												T	4	4	92	137245192	137245192	G	T	1	0	0	0	0	0	1	0	0	5327	1256	44	2		2	FAM166A	9	137245192	Nonsense_Mutation	SNP	G	C3N-02149_TP	999563	137245192	1149525	292	30224											
EHMT1	0	.	GRCh38	chr9	137775187	137775187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccgctcctcgtgctgtgtGaagaccaccggggccgcatg	5	7	13	16	4	0	2	0	1	0	1	2	2	1	2	6	2	1	3	6	2	1	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1726G>A	p.Glu576Lys	p.E576K	ENST00000460843	11/27	301	278	23	309	309	0	strelka-varscan-mutect	EHMT1,missense_variant,p.Glu576Lys,ENST00000460843,NM_024757.4;EHMT1,missense_variant,p.Glu545Lys,ENST00000637161,;EHMT1,missense_variant,p.Glu538Lys,ENST00000636027,;EHMT1,missense_variant,p.Glu576Lys,ENST00000462484,NM_001145527.1;EHMT1,intron_variant,,ENST00000465566,;RP11-188C12.2,downstream_gene_variant,,ENST00000626603,;EHMT1,missense_variant,p.Glu195Lys,ENST00000462942,;EHMT1,3_prime_UTR_variant,,ENST00000637261,;EHMT1,3_prime_UTR_variant,,ENST00000371394,;EHMT1,3_prime_UTR_variant,,ENST00000638071,;EHMT1,upstream_gene_variant,,ENST00000637891,;	A	ENST00000460843	Transcript	missense_variant	1792/5137	1726/3897	576/1298	E/K	Gaa/Aaa		1		1	EHMT1	HGNC	HGNC:24650	protein_coding	YES	CCDS7050.2	ENSP00000417980	Q9H9B1		UPI000194EC2D	NM_024757.4	deleterious(0.02)		11/27																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	92	137775187	137775187	G	A	1	0	0	0	0	1	0	0	0	4819	1291	45	3		3	EHMT1	9	137775187	Missense_Mutation	SNP	G	C3N-02149_TP	529995	137775187	619530	293	30225											
AKR1C4	0	.	GRCh38	chr10	5196936	5196936	+	Silent	SNP	C	C	G																															cccgtattgggatttggcacCtatgcacctccagaggtaat																								novel		C3N-02149_TP	C3N-02149_NB	C	C																c.69C>G	p.=	p.T23T	ENST00000380448	3/11	281	254	27	323	323	0	strelka-varscan-mutect	AKR1C4,synonymous_variant,p.=,ENST00000380448,;AKR1C4,synonymous_variant,p.=,ENST00000263126,NM_001818.3;AKR1C4,downstream_gene_variant,,ENST00000469875,;	G	ENST00000380448	Transcript	synonymous_variant	322/1414	69/972	23/323	T	acC/acG		1		1	AKR1C4	HGNC	HGNC:387	protein_coding	YES	CCDS7064.1	ENSP00000369814	P17516		UPI000013D3B2				3/11		hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF134,Gene3D:3.20.20.100,Pfam_domain:PF00248,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	92	5196936	5196936	C	G	1	0	0	0	0	0	0	0	1	556	668	24	4		4	AKR1C4	10	5196936	Silent	SNP	C	C3N-02149_TP		5196936	128600486	294	30226	627	2									
AKR1C4	0	.	GRCh38	chr10	5196941	5196941	+	Missense_Mutation	SNP	C	C	A																															attgggatttggcacctatgCacctccagaggtaataatca																								novel		C3N-02149_TP	C3N-02149_NB	C	C																c.74C>A	p.Ala25Glu	p.A25E	ENST00000380448	3/11	271	243	28	298	298	0	strelka-varscan-mutect	AKR1C4,missense_variant,p.Ala25Glu,ENST00000380448,;AKR1C4,missense_variant,p.Ala25Glu,ENST00000263126,NM_001818.3;AKR1C4,downstream_gene_variant,,ENST00000469875,;	A	ENST00000380448	Transcript	missense_variant	327/1414	74/972	25/323	A/E	gCa/gAa		1		1	AKR1C4	HGNC	HGNC:387	protein_coding	YES	CCDS7064.1	ENSP00000369814	P17516		UPI000013D3B2		deleterious(0.02)		3/11		hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF134,Gene3D:3.20.20.100,Pfam_domain:PF00248,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	92	5196941	5196941	C	A	1	0	0	0	0	1	0	0	0	556	710	25	2		2	AKR1C4	10	5196941	Missense_Mutation	SNP	C	C3N-02149_TP	5	5196941	128600481	295	30227	627	2									
GDI2	0	.	GRCh38	chr10	5786050	5786050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcaaacaatcccattaggCctaaataaaaaagaattttt	18	13	3	7	0	1	1	1	0	0	1	2	1	2	1	2	1	1	0	2	1	9	6	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.389G>T	p.Ser130Ile	p.S130I	ENST00000380191	5/11	184	137	47	187	187	0	strelka-varscan-mutect	GDI2,missense_variant,p.Ser130Ile,ENST00000380191,NM_001494.3;GDI2,missense_variant,p.Gly85Val,ENST00000380181,NM_001115156.1;GDI2,missense_variant,p.Ser120Ile,ENST00000456041,;GDI2,missense_variant,p.Ser94Ile,ENST00000418688,;GDI2,missense_variant,p.Ser108Ile,ENST00000608581,;GDI2,missense_variant,p.Ser134Ile,ENST00000380127,;GDI2,upstream_gene_variant,,ENST00000447751,;	A	ENST00000380191	Transcript	missense_variant,splice_region_variant	680/2412	389/1338	130/445	S/I	aGc/aTc		1		-1	GDI2	HGNC	HGNC:4227	protein_coding	YES	CCDS7071.1	ENSP00000369538	P50395	Q6IAT1	UPI000012B39E	NM_001494.3	deleterious(0)		5/11		hmmpanther:PTHR11787:SF1,hmmpanther:PTHR11787,Pfam_domain:PF00996,Gene3D:1.10.405.10,Superfamily_domains:SSF51905,Prints_domain:PR00892																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	5786050	5786050	C	A	1	0	0	0	0	1	0	0	0	6194	753	26	2		2	GDI2	10	5786050	Missense_Mutation	SNP	C	C3N-02149_TP	589109	5786050	128011372	296	30228											
RPP38	0	.	GRCh38	chr10	15103518	15103518	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataagaagaaaaagaacaaAacaccttttctgaaaaaaga	24	6	6	5	0	1	5	0	1	1	4	1	6	1	5	1	0	2	0	1	0	10	3	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.204A>G	p.=	p.K68K	ENST00000616640	2/2	303	235	68	353	353	0	strelka-varscan-mutect	RPP38,synonymous_variant,p.=,ENST00000616640,NM_006414.4,NM_001265601.1;RPP38,synonymous_variant,p.=,ENST00000378197,NM_183005.4;RPP38,synonymous_variant,p.=,ENST00000378203,NM_001097590.2;RPP38,synonymous_variant,p.=,ENST00000378202,;RPP38,synonymous_variant,p.=,ENST00000441850,;RPP38,synonymous_variant,p.=,ENST00000378201,;NMT2,downstream_gene_variant,,ENST00000378165,NM_004808.2;NMT2,downstream_gene_variant,,ENST00000378150,NM_001308295.1;NMT2,non_coding_transcript_exon_variant,,ENST00000466201,;RPP38,intron_variant,,ENST00000451677,;NMT2,downstream_gene_variant,,ENST00000486786,;	G	ENST00000616640	Transcript	synonymous_variant	801/1537	204/852	68/283	K	aaA/aaG		1		1	RPP38	HGNC	HGNC:30329	protein_coding	YES	CCDS7108.1	ENSP00000478982	P78345		UPI000006F1AE	NM_006414.4,NM_001265601.1			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR21596																	LOW		SNV	2			1										PASS		.	.												G	2	3	92	15103518	15103518	A	G	1	0	0	0	0	0	0	0	1	13867	11	1	5		5	RPP38	10	15103518	Silent	SNP	A	C3N-02149_TP	9317468	15103518	118693904	297	30229											
TRDMT1	0	.	GRCh38	chr10	17160360	17160360	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacaattttctattgttTgtatcaagaggtctctaaaa	13	15	6	7	0	3	1	1	0	2	1	4	1	3	1	1	1	1	2	1	1	6	7	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.404A>C	p.Gln135Pro	p.Q135P	ENST00000377799	6/11	160	136	24	165	164	1	strelka-varscan-mutect	TRDMT1,missense_variant,p.Gln135Pro,ENST00000377799,NM_004412.5;TRDMT1,missense_variant,p.Gln68Pro,ENST00000313936,;TRDMT1,missense_variant,p.Gln93Pro,ENST00000525762,;TRDMT1,synonymous_variant,p.=,ENST00000436968,;TRDMT1,intron_variant,,ENST00000488990,;TRDMT1,non_coding_transcript_exon_variant,,ENST00000452380,;TRDMT1,3_prime_UTR_variant,,ENST00000354631,;TRDMT1,3_prime_UTR_variant,,ENST00000495022,;TRDMT1,3_prime_UTR_variant,,ENST00000424636,;	G	ENST00000377799	Transcript	missense_variant	452/3527	404/1176	135/391	Q/P	cAa/cCa		1		-1	TRDMT1	HGNC	HGNC:2977	protein_coding	YES	CCDS7114.1	ENSP00000367030	O14717	Q6ICS7	UPI0000129698	NM_004412.5	deleterious(0.02)		6/11		Gene3D:3.40.50.150,Pfam_domain:PF00145,PROSITE_profiles:PS51679,hmmpanther:PTHR10629,Superfamily_domains:SSF53335,TIGRFAM_domain:TIGR00675																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	17160360	17160360	T	G	1	0	0	0	0	1	0	0	0	16956	1812	63	5		5	TRDMT1	10	17160360	Missense_Mutation	SNP	T	C3N-02149_TP	2056842	17160360	116637062	298	30230											
ST8SIA6	0	.	GRCh38	chr10	17321330	17321330	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaaatagggcttttttttCctttaagttcccatatctgc	9	17	6	9	0	1	1	0	0	1	1	3	1	3	1	2	1	1	2	2	1	4	9	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.745G>T	p.Glu249Ter	p.E249*	ENST00000377602	8/8	144	126	18	138	138	0	strelka-varscan-mutect	ST8SIA6,stop_gained,p.Glu249Ter,ENST00000377602,NM_001004470.1;ST8SIA6,stop_gained,p.Glu70Ter,ENST00000440449,;	A	ENST00000377602	Transcript	stop_gained	820/2276	745/1197	249/398	E/*	Gaa/Taa		1		-1	ST8SIA6	HGNC	HGNC:23317	protein_coding	YES	CCDS31158.1	ENSP00000366827	P61647		UPI0000359594	NM_001004470.1			8/8		hmmpanther:PTHR11987:SF29,hmmpanther:PTHR11987,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557																	HIGH	1	SNV	1			1										PASS		rs1420671764	.												A	4	1	92	17321330	17321330	C	A	1	0	0	0	0	0	1	0	0	15614	864	30	2		2	ST8SIA6	10	17321330	Nonsense_Mutation	SNP	C	C3N-02149_TP	160970	17321330	116476092	299	30231											
SLC39A12	0	.	GRCh38	chr10	17987575	17987575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagctgtgaggagaactacaGgcttatcttacagctgtttg	10	13	11	7	0	1	2	0	1	1	1	1	3	1	2	0	2	5	4	0	2	5	5	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1193G>T	p.Arg398Met	p.R398M	ENST00000377369	7/13	361	285	76	395	395	0	strelka-varscan-mutect	SLC39A12,missense_variant,p.Arg398Met,ENST00000377369,NM_001145195.1;SLC39A12,missense_variant,p.Arg398Met,ENST00000377371,NM_001282733.1;SLC39A12,missense_variant,p.Arg398Met,ENST00000377374,NM_152725.3;SLC39A12,missense_variant,p.Arg264Met,ENST00000539911,NM_001282734.1;	T	ENST00000377369	Transcript	missense_variant	1466/2808	1193/2076	398/691	R/M	aGg/aTg		1		1	SLC39A12	HGNC	HGNC:20860	protein_coding	YES	CCDS44362.1	ENSP00000366586	Q504Y0		UPI00004044FC	NM_001145195.1	tolerated(0.09)		7/13		hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191,Pfam_domain:PF02535																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	17987575	17987575	G	T	1	0	0	0	0	1	0	0	0	14893	1000	35	2		2	SLC39A12	10	17987575	Missense_Mutation	SNP	G	C3N-02149_TP	666245	17987575	115809847	300	30232											
SLC39A12	0	.	GRCh38	chr10	17995695	17995695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctgaaatgcctataGgcagtatgacagcctccaac	13	7	10	11	0	0	2	0	2	0	0	1	2	1	2	3	2	4	4	3	2	5	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1573G>A	p.Gly525Ser	p.G525S	ENST00000377369	10/13	239	181	58	257	256	1	strelka-varscan-mutect	SLC39A12,missense_variant,p.Gly525Ser,ENST00000377369,NM_001145195.1;SLC39A12,missense_variant,p.Gly524Ser,ENST00000377371,NM_001282733.1;SLC39A12,missense_variant,p.Gly488Ser,ENST00000377374,NM_152725.3;SLC39A12,missense_variant,p.Gly391Ser,ENST00000539911,NM_001282734.1;	A	ENST00000377369	Transcript	missense_variant	1846/2808	1573/2076	525/691	G/S	Ggc/Agc		1		1	SLC39A12	HGNC	HGNC:20860	protein_coding	YES	CCDS44362.1	ENSP00000366586	Q504Y0		UPI00004044FC	NM_001145195.1	tolerated(0.59)		10/13		hmmpanther:PTHR12191:SF4,hmmpanther:PTHR12191,Pfam_domain:PF02535																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	17995695	17995695	G	A	1	0	0	0	0	1	0	0	0	14893	1000	35	3		3	SLC39A12	10	17995695	Missense_Mutation	SNP	G	C3N-02149_TP	8120	17995695	115801727	301	30233											
MALRD1	0	.	GRCh38	chr10	19491566	19491566	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcactgattttttgtgccgGgacaagaagtgcattgcatc	10	13	10	8	1	1	2	1	1	0	1	2	3	1	3	1	1	3	2	1	1	2	4	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.5079G>T	p.=	p.R1693R	ENST00000454679	30/40	311	267	44	373	373	0	strelka-varscan-mutect	MALRD1,synonymous_variant,p.=,ENST00000454679,NM_001142308.2;MALRD1,synonymous_variant,p.=,ENST00000377266,;MALRD1,synonymous_variant,p.=,ENST00000377265,;MALRD1,non_coding_transcript_exon_variant,,ENST00000492202,;HMGN1P20,downstream_gene_variant,,ENST00000411849,;RP11-265G8.3,upstream_gene_variant,,ENST00000427935,;	T	ENST00000454679	Transcript	synonymous_variant	5247/6880	5079/6471	1693/2156	R	cgG/cgT		1		1	MALRD1	HGNC	HGNC:24331	protein_coding	YES	CCDS73071.1	ENSP00000412763	Q5VYJ5		UPI000387C99A	NM_001142308.2			30/40		PROSITE_profiles:PS50068,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF86,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	19491566	19491566	G	T	1	0	0	0	0	0	0	0	1	9121	1219	43	2		2	MALRD1	10	19491566	Silent	SNP	G	C3N-02149_TP	1495871	19491566	114305856	302	30234											
PLXDC2	0	.	GRCh38	chr10	20001964	20001964	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgctggatgatgggcAggacaataacactcagatcg	11	8	12	10	1	1	2	1	1	0	1	2	4	1	4	1	3	3	3	1	3	2	1	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.302A>T	p.Gln101Leu	p.Q101L	ENST00000377252	2/14	356	300	56	367	366	1	strelka-varscan-mutect	PLXDC2,missense_variant,p.Gln101Leu,ENST00000377252,NM_032812.8;PLXDC2,missense_variant,p.Gln101Leu,ENST00000377242,NM_001282736.1;	T	ENST00000377252	Transcript	missense_variant	1143/12468	302/1590	101/529	Q/L	cAg/cTg		1		1	PLXDC2	HGNC	HGNC:21013	protein_coding	YES	CCDS7132.1	ENSP00000366460	Q6UX71		UPI0000048F2C	NM_032812.8	tolerated(0.41)		2/14		hmmpanther:PTHR13055:SF11,hmmpanther:PTHR13055																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	20001964	20001964	A	T	1	0	0	0	0	1	0	0	0	12224	188	7	4		4	PLXDC2	10	20001964	Missense_Mutation	SNP	A	C3N-02149_TP	510398	20001964	113795458	303	30235											
ZNF438	0	.	GRCh38	chr10	30849382	30849382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtagcctgcttgccacCttggtggctgcattaaagcc	8	10	11	12	0	0	0	0	0	0	0	0	0	0	0	4	3	5	4	4	3	3	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1023G>T	p.Lys341Asn	p.K341N	ENST00000442986	7/8	344	272	72	354	353	1	strelka-varscan-mutect	ZNF438,missense_variant,p.Lys331Asn,ENST00000452305,NM_001143770.1,NM_001143771.1;ZNF438,missense_variant,p.Lys292Asn,ENST00000538351,NM_001143769.1;ZNF438,missense_variant,p.Lys341Asn,ENST00000442986,NM_182755.2;ZNF438,missense_variant,p.Lys331Asn,ENST00000331737,;ZNF438,missense_variant,p.Lys341Asn,ENST00000436087,NM_001143766.1,NM_001143768.1;ZNF438,missense_variant,p.Lys341Asn,ENST00000361310,;ZNF438,missense_variant,p.Lys341Asn,ENST00000413025,NM_001143767.1;ZNF438,5_prime_UTR_variant,,ENST00000375311,;ZNF438,intron_variant,,ENST00000609683,;	A	ENST00000442986	Transcript	missense_variant	1458/3245	1023/2487	341/828	K/N	aaG/aaT		1		-1	ZNF438	HGNC	HGNC:21029	protein_coding	YES	CCDS7168.1	ENSP00000412363	Q7Z4V0		UPI00001B3D8F	NM_182755.2	tolerated(0.11)		7/8																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	92	30849382	30849382	C	A	1	0	0	0	0	1	0	0	0	18481	680	24	2		2	ZNF438	10	30849382	Missense_Mutation	SNP	C	C3N-02149_TP	10847418	30849382	102948040	304	30236											
ANKRD30A	0	.	GRCh38	chr10	37129951	37129951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtagtaacatttctggtaGacagaaagtgccagcttgac	14	10	10	7	0	1	3	0	1	1	2	1	3	1	3	1	1	3	4	1	1	5	5	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.112G>C	p.Asp38His	p.D38H	ENST00000361713	2/36	110	97	13	192	192	0	strelka-varscan-mutect	ANKRD30A,missense_variant,p.Asp38His,ENST00000374660,;ANKRD30A,missense_variant,p.Asp94His,ENST00000611781,;ANKRD30A,missense_variant,p.Asp38His,ENST00000602533,;ANKRD30A,missense_variant,p.Asp38His,ENST00000361713,NM_052997.2;	C	ENST00000361713	Transcript	missense_variant	211/4405	112/4026	38/1341	D/H	Gac/Cac		1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2	deleterious(0.01)		2/36		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	92	37129951	37129951	G	C	1	0	0	0	0	1	0	0	0	761	942	33	4		4	ANKRD30A	10	37129951	Missense_Mutation	SNP	G	C3N-02149_TP	6280569	37129951	96667471	305	30237											
ANKRD30A	0	.	GRCh38	chr10	37153577	37153577	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattacttttaacagagtctCtgtgagactgtttcacagaa	12	15	7	7	0	2	3	1	1	1	3	3	4	2	3	0	0	2	1	0	0	4	5	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1545C>A	p.=	p.L515L	ENST00000361713	13/36	369	282	87	513	512	1	strelka-varscan-mutect	ANKRD30A,synonymous_variant,p.=,ENST00000374660,;ANKRD30A,synonymous_variant,p.=,ENST00000611781,;ANKRD30A,synonymous_variant,p.=,ENST00000602533,;ANKRD30A,synonymous_variant,p.=,ENST00000361713,NM_052997.2;	A	ENST00000361713	Transcript	synonymous_variant	1644/4405	1545/4026	515/1341	L	ctC/ctA		1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2			13/36		hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147																	LOW	1	SNV	5			1										PASS		rs778359317	.												A	2	1	92	37153577	37153577	C	A	1	0	0	0	0	0	0	0	1	761	927	32	2		2	ANKRD30A	10	37153577	Silent	SNP	C	C3N-02149_TP	23626	37153577	96643845	306	30238											
ANXA8L1	0	.	GRCh38	chr10	46390883	46390883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccacaggaagacaccagcGgcgactacaagaacgccctg	14	2	10	15	3	0	2	0	0	0	2	0	4	0	3	3	2	3	0	3	2	4	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.937G>T	p.Gly313Cys	p.G313C	ENST00000619162	12/12	383	352	31	496	496	0	varscan-mutect	ANXA8L1,missense_variant,p.Gly351Cys,ENST00000584982,;ANXA8L1,missense_variant,p.Gly251Cys,ENST00000613703,;ANXA8L1,missense_variant,p.Gly262Cys,ENST00000622769,NM_001278924.1;ANXA8L1,missense_variant,p.Gly256Cys,ENST00000611655,NM_001278923.1;ANXA8L1,missense_variant,p.Gly313Cys,ENST00000619162,NM_001098845.2;ANXA8L1,intron_variant,,ENST00000616785,;	T	ENST00000619162	Transcript	missense_variant	1062/1109	937/984	313/327	G/C	Ggc/Tgc		1		1	ANXA8L1	HGNC	HGNC:23334	protein_coding	YES	CCDS73098.1	ENSP00000480221	Q5VT79		UPI000002BA02	NM_001098845.2	deleterious(0)		12/12		hmmpanther:PTHR10502,PROSITE_patterns:PS00223,Pfam_domain:PF00191,Gene3D:1.10.220.10,SMART_domains:SM00335,Superfamily_domains:SSF47874,Prints_domain:PR00196																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	46390883	46390883	G	T	1	0	0	0	0	1	0	0	0	833	1116	39	1		1	ANXA8L1	10	46390883	Missense_Mutation	SNP	G	C3N-02149_TP	9237306	46390883	87406539	307	30239											
GDF10	0	.	GRCh38	chr10	47310173	47310173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attctgaggagagggacccgGgggtgccccggcccagcccc	6	4	16	15	2	1	2	0	1	1	1	1	4	1	3	6	5	2	0	6	5	0	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.697G>T	p.Gly233Trp	p.G233W	ENST00000580279	2/3	196	174	22	316	316	0	strelka-varscan-mutect	GDF10,missense_variant,p.Gly233Trp,ENST00000580279,NM_004962.3;	T	ENST00000580279	Transcript	missense_variant	963/2458	697/1437	233/478	G/W	Ggg/Tgg		1		1	GDF10	HGNC	HGNC:4215	protein_coding	YES	CCDS73117.1	ENSP00000464145	P55107		UPI0000126A13	NM_004962.3	tolerated(0.06)		2/3		PIRSF_domain:PIRSF037403,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF145																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	47310173	47310173	G	T	1	0	0	0	0	1	0	0	0	6184	1232	43	2		2	GDF10	10	47310173	Missense_Mutation	SNP	G	C3N-02149_TP	919290	47310173	86487249	308	30240											
WDFY4	0	.	GRCh38	chr10	48828805	48828805	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggatttggattggagccCaagcctagaatgtctactta	12	11	11	7	0	1	1	0	0	1	1	1	5	1	4	2	3	3	0	2	3	6	5			C3N-02149_TP	C3N-02149_NB	C	C																c.6249C>A	p.=	p.P2083P	ENST00000325239	36/61	170	158	12	207	206	1	strelka-varscan-mutect	WDFY4,synonymous_variant,p.=,ENST00000325239,NM_020945.1;WDFY4,synonymous_variant,p.=,ENST00000265453,;WDFY4,downstream_gene_variant,,ENST00000374161,;	A	ENST00000325239	Transcript	synonymous_variant	6249/9555	6249/9555	2083/3184	P	ccC/ccA	COSM5180946	1		1	WDFY4	HGNC	HGNC:29323	protein_coding	YES	CCDS44385.1	ENSP00000320563	Q6ZS81		UPI000176ADB8	NM_020945.1			36/61		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF85											1						LOW	1	SNV	5		1	1										PASS		.	.												A	2	1	92	48828805	48828805	C	A	1	0	0	0	0	0	0	0	1	17831	581	21	2		2	WDFY4	10	48828805	Silent	SNP	C	C3N-02149_TP	1518632	48828805	84968617	309	30241											
PCDH15	0	.	GRCh38	chr10	54185201	54185201	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtgaggtagcgagtaataCcagtctgtgtgacggtgaag	11	9	16	5	2	1	3	0	3	1	0	1	4	1	3	1	3	2	2	1	3	4	3	rs766969775		C3N-02149_TP	C3N-02149_NB	C	C																c.1388G>T	p.Gly463Val	p.G463V	ENST00000373957	13/35	537	500	37	693	691	2	strelka-varscan-mutect	PCDH15,missense_variant,p.Gly463Val,ENST00000614895,;PCDH15,missense_variant,p.Gly458Val,ENST00000373965,NM_001142772.1;PCDH15,missense_variant,p.Gly458Val,ENST00000414778,;PCDH15,missense_variant,p.Gly463Val,ENST00000617051,;PCDH15,missense_variant,p.Gly463Val,ENST00000373957,NM_001142763.1;PCDH15,missense_variant,p.Gly458Val,ENST00000361849,NM_001142768.1,NM_001142764.1;PCDH15,missense_variant,p.Gly458Val,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Gly436Val,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Gly421Val,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Gly458Val,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Gly458Val,ENST00000622048,;PCDH15,missense_variant,p.Gly458Val,ENST00000437009,NM_001142765.1;PCDH15,missense_variant,p.Gly458Val,ENST00000617271,NM_001142770.1;PCDH15,missense_variant,p.Gly470Val,ENST00000613657,NM_001142769.1;PCDH15,missense_variant,p.Gly465Val,ENST00000395445,;PCDH15,missense_variant,p.Gly458Val,ENST00000616114,;PCDH15,missense_variant,p.Gly458Val,ENST00000395438,;PCDH15,missense_variant,p.Gly470Val,ENST00000612394,;PCDH15,missense_variant,p.Gly463Val,ENST00000621708,NM_001142771.1;PCDH15,missense_variant,p.Gly69Val,ENST00000409834,;PCDH15,missense_variant,p.Gly458Val,ENST00000373955,;PCDH15,missense_variant,p.Gly458Val,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,missense_variant,p.Gly458Val,ENST00000448885,;PCDH15,missense_variant,p.Gly458Val,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;	A	ENST00000373957	Transcript	missense_variant	1783/7032	1388/5889	463/1962	G/V	gGt/gTt	rs766969775	1		-1	PCDH15	HGNC	HGNC:14674	protein_coding	YES	CCDS73137.1	ENSP00000363068		A2A3D8	UPI0001884901	NM_001142763.1	deleterious(0)		13/35		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF11,hmmpanther:PTHR24028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		rs766969775	.												A	3	1	92	54185201	54185201	C	A	1	0	0	0	0	1	0	0	0	11598	507	18	2		2	PCDH15	10	54185201	Missense_Mutation	SNP	C	C3N-02149_TP	5356396	54185201	79612221	310	30242											
NRG3	0	.	GRCh38	chr10	81875750	81875750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taccacttccaccacgtcccCcgccaccccctccgccgggg	5	5	7	24	4	0	0	0	0	0	0	3	0	3	0	10	2	1	0	10	2	1	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.410C>A	p.Pro137His	p.P137H	ENST00000372141	1/9	379	275	104	375	375	0	strelka-varscan-mutect	NRG3,missense_variant,p.Pro137His,ENST00000404547,;NRG3,missense_variant,p.Pro137His,ENST00000372141,NM_001165972.1,NM_001010848.3;NRG3,upstream_gene_variant,,ENST00000372142,NM_001165973.1;NRG3,upstream_gene_variant,,ENST00000556918,;NRG3,upstream_gene_variant,,ENST00000404576,;NRG3,upstream_gene_variant,,ENST00000602794,;NRG3,upstream_gene_variant,,ENST00000555784,;	A	ENST00000372141	Transcript	missense_variant	437/2158	410/2091	137/696	P/H	cCc/cAc		1		1	NRG3	HGNC	HGNC:7999	protein_coding	YES	CCDS31233.1	ENSP00000361214	P56975		UPI00003D64C0	NM_001165972.1,NM_001010848.3	deleterious(0.01)		1/9		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1294798567	.												A	3	1	92	81875750	81875750	C	A	1	0	0	0	0	1	0	0	0	10707	623	22	2		2	NRG3	10	81875750	Missense_Mutation	SNP	C	C3N-02149_TP	27690549	81875750	51921672	311	30243											
CDHR1	0	.	GRCh38	chr10	84214607	84214607	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagagtgtgcacaacAaggcttacttctagtgtatg	14	10	11	6	0	1	3	0	0	1	3	1	3	1	3	0	1	3	3	0	1	7	4	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.2566A>G	p.Lys856Glu	p.K856E	ENST00000623527	17/17	246	229	17	328	328	0	strelka-varscan-mutect	CDHR1,missense_variant,p.Lys856Glu,ENST00000623527,NM_033100.3;CDHR1,missense_variant,p.Lys595Glu,ENST00000372117,;CDHR1,intron_variant,,ENST00000332904,NM_001171971.2;CDHR1,intron_variant,,ENST00000623399,;CDHR1,non_coding_transcript_exon_variant,,ENST00000459673,;CDHR1,downstream_gene_variant,,ENST00000622973,;	G	ENST00000623527	Transcript	missense_variant	2692/6781	2566/2580	856/859	K/E	Aag/Gag		1		1	CDHR1	HGNC	HGNC:14550	protein_coding	YES	CCDS7372.1	ENSP00000485478	Q96JP9	F1T0L2	UPI0000161C2F	NM_033100.3	deleterious_low_confidence(0.01)		17/17																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	84214607	84214607	A	G	1	0	0	0	0	1	0	0	0	2821	131	5	5		5	CDHR1	10	84214607	Missense_Mutation	SNP	A	C3N-02149_TP	2338857	84214607	49582815	312	30244											
LIPN	0	.	GRCh38	chr10	88761420	88761420	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttctatgatgtggctgctTttaacaacaacttgtttgat	10	18	7	6	0	1	2	0	2	1	0	1	2	1	2	0	1	4	3	0	1	4	6	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.15T>A	p.=	p.L5L	ENST00000404459	1/9	244	190	54	306	306	0	strelka-varscan-mutect	LIPN,synonymous_variant,p.=,ENST00000404459,NM_001102469.1;	A	ENST00000404459	Transcript	synonymous_variant	15/1197	15/1197	5/398	L	ctT/ctA		1		1	LIPN	HGNC	HGNC:23452	protein_coding	YES	CCDS44456.1	ENSP00000383923	Q5VXI9		UPI000150AF6A	NM_001102469.1			1/9		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF16,PIRSF_domain:PIRSF000862																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	88761420	88761420	T	A	1	0	0	0	0	0	0	0	1	8750	1828	64	4		4	LIPN	10	88761420	Silent	SNP	T	C3N-02149_TP	4546813	88761420	45036002	313	30245											
PPP1R3C	0	.	GRCh38	chr10	91630800	91630800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgaatgtgccaagcaaagCctcatggccacatccacggg	11	6	12	12	1	1	1	1	1	0	0	2	1	2	1	4	3	3	1	4	3	3	0			C3N-02149_TP	C3N-02149_NB	C	C																c.81G>T	p.Arg27Ser	p.R27S	ENST00000238994	2/2	391	357	34	239	239	0	strelka-varscan-mutect	PPP1R3C,missense_variant,p.Arg27Ser,ENST00000238994,NM_005398.5;	A	ENST00000238994	Transcript	missense_variant	166/2524	81/954	27/317	R/S	agG/agT	COSM5338803	1		-1	PPP1R3C	HGNC	HGNC:9293	protein_coding	YES	CCDS7416.1	ENSP00000238994	Q9UQK1		UPI000006EFF1	NM_005398.5	tolerated(0.12)		2/2		PIRSF_domain:PIRSF038207,PIRSF_domain:PIRSF500813,hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF15											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	92	91630800	91630800	C	A	1	0	0	0	0	1	0	0	0	12494	738	26	2		2	PPP1R3C	10	91630800	Missense_Mutation	SNP	C	C3N-02149_TP	2869380	91630800	42166622	314	30246											
LCOR	0	.	GRCh38	chr10	96982784	96982784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtataggaaaattagaggGagaggacggtgatgtaaaat	16	9	15	1	1	0	3	0	1	0	2	0	6	0	5	0	5	0	2	0	5	7	4	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1394G>T	p.Gly465Val	p.G465V	ENST00000286067	1/1	208	151	57	251	250	1	strelka-varscan-mutect	LCOR,missense_variant,p.Gly747Val,ENST00000421806,;LCOR,missense_variant,p.Gly465Val,ENST00000286067,NM_015652.2;	T	ENST00000286067	Transcript	missense_variant	1501/4542	1394/3744	465/1247	G/V	gGa/gTa		1		1	LCOR	HGNC	HGNC:29503	protein_coding	YES	CCDS7452.1	ENSP00000286067	Q8N655		UPI000006F242	NM_015652.2	tolerated(0.09)		1/1		hmmpanther:PTHR14931,hmmpanther:PTHR14931:SF2																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	92	96982784	96982784	G	T	1	0	0	0	0	1	0	0	0	8595	1174	41	2		2	LCOR	10	96982784	Missense_Mutation	SNP	G	C3N-02149_TP	5351984	96982784	36814638	315	30247											
PSD	0	.	GRCh38	chr10	102412388	102412388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctagtggctttacttcttgcCcaggtgccgggccacatcgg	5	11	12	13	2	1	0	0	0	1	0	2	0	1	0	3	4	3	1	3	4	2	5	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1741G>T	p.Gly581Cys	p.G581C	ENST00000020673	6/17	126	117	9	135	134	1	strelka-varscan-mutect	PSD,missense_variant,p.Gly581Cys,ENST00000020673,NM_002779.4;PSD,missense_variant,p.Gly581Cys,ENST00000406432,NM_001270965.1;PSD,missense_variant,p.Gly202Cys,ENST00000611678,NM_001270966.1;PSD,upstream_gene_variant,,ENST00000461698,;PSD,downstream_gene_variant,,ENST00000492902,;PSD,downstream_gene_variant,,ENST00000472685,;PSD,upstream_gene_variant,,ENST00000488194,;	A	ENST00000020673	Transcript	missense_variant	2268/4183	1741/3075	581/1024	G/C	Ggc/Tgc		1		-1	PSD	HGNC	HGNC:9507	protein_coding	YES	CCDS31272.1	ENSP00000020673	A5PKW4		UPI0000404928	NM_002779.4	deleterious(0.02)		6/17		PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF115,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	102412388	102412388	C	A	1	0	0	0	0	1	0	0	0	12797	623	22	2		2	PSD	10	102412388	Missense_Mutation	SNP	C	C3N-02149_TP	5429604	102412388	31385034	316	30248											
CALHM1	0	.	GRCh38	chr10	103458235	103458235	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaacgcacggccacctctcGggccaacagccagtcgccat	9	5	10	17	4	1	0	0	0	1	0	3	0	1	0	5	2	3	2	5	2	2	1	rs374478309		C3N-02149_TP	C3N-02149_NB	G	G																c.517C>A	p.=	p.R173R	ENST00000329905	1/2	415	391	24	427	426	1	strelka-varscan-mutect	CALHM1,synonymous_variant,p.=,ENST00000329905,NM_001001412.3;RP11-225H22.4,intron_variant,,ENST00000411906,;	T	ENST00000329905	Transcript	synonymous_variant	654/3053	517/1041	173/346	R	Cga/Aga	rs374478309	1		-1	CALHM1	HGNC	HGNC:23494	protein_coding	YES	CCDS7550.1	ENSP00000329926	Q8IU99		UPI000016144D	NM_001001412.3			1/2		hmmpanther:PTHR32261,hmmpanther:PTHR32261:SF2,Pfam_domain:PF14798																	LOW	1	SNV	1			1										PASS		rs374478309	.												T	2	4	92	103458235	103458235	G	T	1	0	0	0	0	0	0	0	1	2272	1124	39	1		1	CALHM1	10	103458235	Silent	SNP	G	C3N-02149_TP	1045847	103458235	30339187	317	30249											
PNLIPRP1	0	.	GRCh38	chr10	116592438	116592438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcctcctctctgatccatCaacaattgaggcatcaaatt	11	13	4	13	0	4	2	2	2	2	0	8	2	6	2	3	1	1	1	3	1	3	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.227C>T	p.Ser76Leu	p.S76L	ENST00000528052	4/13	107	79	28	129	129	0	strelka-varscan-mutect	PNLIPRP1,missense_variant,p.Ser76Leu,ENST00000528052,NM_001303135.1;PNLIPRP1,missense_variant,p.Ser76Leu,ENST00000358834,NM_006229.3;PNLIPRP1,missense_variant,p.Ser76Leu,ENST00000534537,;PNLIPRP1,missense_variant,p.Ser76Leu,ENST00000531984,;PNLIPRP1,missense_variant,p.Ser76Leu,ENST00000530319,;PNLIPRP1,missense_variant,p.Ser76Leu,ENST00000527980,;PNLIPRP1,missense_variant,p.Ser76Leu,ENST00000471549,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000480870,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525157,;PNLIPRP1,upstream_gene_variant,,ENST00000510125,;PNLIPRP1,missense_variant,p.Ser76Leu,ENST00000497792,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000526223,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000531825,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525820,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000482159,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000484402,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000529584,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000470678,;PNLIPRP1,upstream_gene_variant,,ENST00000482833,;PNLIPRP1,downstream_gene_variant,,ENST00000530626,;	T	ENST00000528052	Transcript	missense_variant	298/1533	227/1404	76/467	S/L	tCa/tTa		1		1	PNLIPRP1	HGNC	HGNC:9156	protein_coding	YES	CCDS7595.1	ENSP00000433933	P54315		UPI000012E6AA	NM_001303135.1	tolerated(0.09)		4/13		Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Prints_domain:PR00823,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF108,Superfamily_domains:SSF53474																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	92	116592438	116592438	C	T	1	0	0	0	0	1	0	0	0	12258	838	29	3		3	PNLIPRP1	10	116592438	Missense_Mutation	SNP	C	C3N-02149_TP	13134203	116592438	17204984	318	30250											
BTBD16	0	.	GRCh38	chr10	122289911	122289911	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctcatttcctttactagctCaatcacctaagaagaccaaa	14	12	3	12	0	3	2	3	0	1	2	5	2	4	2	3	0	2	1	3	0	6	5	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.388C>G	p.Gln130Glu	p.Q130E	ENST00000260723	6/16	133	125	8	165	165	0	strelka-varscan-mutect	BTBD16,missense_variant,p.Gln130Glu,ENST00000260723,NM_001318189.1,NM_144587.2;BTBD16,upstream_gene_variant,,ENST00000507495,;	G	ENST00000260723	Transcript	missense_variant,splice_region_variant	639/1849	388/1521	130/506	Q/E	Caa/Gaa		1		1	BTBD16	HGNC	HGNC:26340	protein_coding	YES	CCDS31301.1	ENSP00000260723	Q32M84		UPI00003CEFB9	NM_001318189.1,NM_144587.2	tolerated(0.56)		6/16		Gene3D:3.30.710.10,hmmpanther:PTHR23231,hmmpanther:PTHR23231:SF4																	MODERATE	1	SNV	2			1										PASS		rs1031080773	.												G	3	3	92	122289911	122289911	C	G	1	0	0	0	0	1	0	0	0	1715	840	29	4		4	BTBD16	10	122289911	Missense_Mutation	SNP	C	C3N-02149_TP	5697473	122289911	11507511	319	30251											
TUBGCP2	0	.	GRCh38	chr10	133298108	133298108	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctttcttttaagttccaGagactagcaaggacatttta	12	15	6	8	0	2	1	0	0	2	1	3	3	3	2	1	1	1	2	1	1	4	7	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.460C>G	p.Leu154Val	p.L154V	ENST00000543663	5/19	114	107	7	123	123	0	strelka-varscan-mutect	TUBGCP2,missense_variant,p.Leu154Val,ENST00000543663,NM_001256617.1;TUBGCP2,missense_variant,p.Leu154Val,ENST00000368563,NM_006659.3;TUBGCP2,missense_variant,p.Leu24Val,ENST00000417178,NM_001256618.1;TUBGCP2,missense_variant,p.Leu154Val,ENST00000252936,;RP11-122K13.12,upstream_gene_variant,,ENST00000424450,;TUBGCP2,downstream_gene_variant,,ENST00000470829,;TUBGCP2,missense_variant,p.Leu154Val,ENST00000482278,;TUBGCP2,3_prime_UTR_variant,,ENST00000487796,;TUBGCP2,downstream_gene_variant,,ENST00000480198,;	C	ENST00000543663	Transcript	missense_variant	833/4302	460/2793	154/930	L/V	Ctg/Gtg		1		-1	TUBGCP2	HGNC	HGNC:18599	protein_coding	YES	CCDS58105.1	ENSP00000446093	Q9BSJ2		UPI00020651C0	NM_001256617.1	tolerated(0.49)		5/19		hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	133298108	133298108	G	C	1	0	0	0	0	1	0	0	0	17276	956	33	4		4	TUBGCP2	10	133298108	Missense_Mutation	SNP	G	C3N-02149_TP	11008197	133298108	499314	320	30252											
MUC6	0	.	GRCh38	chr11	1016021	1016021	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaggagaaggcaggggcGgtgtgggtgctggccgtggt	6	7	23	5	2	0	2	0	1	0	2	0	4	0	2	1	8	1	2	1	8	1	0	rs772349712		C3N-02149_TP	C3N-02149_NB	G	G																c.6780C>G	p.=	p.T2260T	ENST00000421673	31/33	77	59	18	83	83	0	strelka-varscan-mutect	MUC6,synonymous_variant,p.=,ENST00000421673,NM_005961.2;MUC6,synonymous_variant,p.=,ENST00000532016,;AP2A2,downstream_gene_variant,,ENST00000332231,NM_001242837.1;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.3;MUC6,downstream_gene_variant,,ENST00000527242,;	C	ENST00000421673	Transcript	synonymous_variant	6831/8006	6780/7320	2260/2439	T	acC/acG	rs772349712	1		-1	MUC6	HGNC	HGNC:7517	protein_coding	YES	CCDS44513.1	ENSP00000406861	Q6W4X9		UPI0000251DBE	NM_005961.2			31/33																			LOW		SNV	5			1										PASS		rs772349712	.												C	2	2	92	1016021	1016021	G	C	1	0	0	0	0	0	0	0	1	9980	1103	39	4		4	MUC6	11	1016021	Silent	SNP	G	C3N-02149_TP		1016021	134070601	321	30253											
MUC5AC	0	.	GRCh38	chr11	1158013	1158013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacacaatgagtgttggccGgaggaagctggccctgctct	8	8	13	12	1	1	1	0	1	1	0	1	3	1	3	3	4	2	3	3	4	2	1	rs752586982		C3N-02149_TP	C3N-02149_NB	G	G																c.14G>T	p.Arg5Leu	p.R5L	ENST00000621226	1/49	213	176	37	181	180	1	strelka-varscan-mutect	MUC5AC,missense_variant,p.Arg5Leu,ENST00000621226,NM_001304359.1;	T	ENST00000621226	Transcript	missense_variant	61/17448	14/16965	5/5654	R/L	cGg/cTg	rs752586982	1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	deleterious(0.01)		1/49		PROSITE_profiles:PS51257,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	5			1										PASS		rs752586982	.												T	3	4	92	1158013	1158013	G	T	1	0	0	0	0	1	0	0	0	9978	1116	39	1		1	MUC5AC	11	1158013	Missense_Mutation	SNP	G	C3N-02149_TP	141992	1158013	133928609	322	30254											
MUC5AC	0	.	GRCh38	chr11	1196400	1196400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacagcattcacctgccCagccgacaaggtgtaccagc	10	5	8	18	1	1	0	1	0	0	0	1	1	1	0	6	1	5	2	6	1	2	2	rs749148814		C3N-02149_TP	C3N-02149_NB	C	C																c.15650C>A	p.Pro5217Gln	p.P5217Q	ENST00000621226	38/49	264	222	42	303	302	1	strelka-varscan-mutect	MUC5AC,missense_variant,p.Pro5217Gln,ENST00000621226,NM_001304359.1;	A	ENST00000621226	Transcript	missense_variant	15697/17448	15650/16965	5217/5654	P/Q	cCa/cAa	rs749148814	1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	deleterious(0.01)		38/49		Gene3D:2.10.25.10,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF291,Superfamily_domains:SSF57567																	MODERATE	1	SNV	5			1										PASS		rs749148814	.												A	3	1	92	1196400	1196400	C	A	1	0	0	0	0	1	0	0	0	9978	594	21	2		2	MUC5AC	11	1196400	Missense_Mutation	SNP	C	C3N-02149_TP	38387	1196400	133890222	323	30255											
MUC5B	0	.	GRCh38	chr11	1242657	1242657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggatccacggccacccCgacctccaccctgagaacag	10	4	8	19	2	0	1	0	1	0	1	2	4	2	2	7	2	1	0	7	2	1	0	rs542594128		C3N-02149_TP	C3N-02149_NB	C	C																c.5777C>A	p.Pro1926Gln	p.P1926Q	ENST00000529681	31/49	675	567	108	652	650	2	strelka-varscan-mutect	MUC5B,missense_variant,p.Pro1926Gln,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;	A	ENST00000529681	Transcript	missense_variant	5835/17911	5777/17289	1926/5762	P/Q	cCg/cAg	rs542594128	1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2	tolerated(0.11)		31/49		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs542594128	.												A	3	1	92	1242657	1242657	C	A	1	0	0	0	0	1	0	0	0	9979	652	23	1		1	MUC5B	11	1242657	Missense_Mutation	SNP	C	C3N-02149_TP	46257	1242657	133843965	324	30256											
BRSK2	0	.	GRCh38	chr11	1451380	1451380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcacagttccgacgcCggaggagatgtccaacctga	9	8	13	11	3	0	2	0	1	0	1	2	5	2	3	4	2	2	2	4	2	1	1	rs765073528		C3N-02149_TP	C3N-02149_NB	C	C																c.1643C>A	p.Pro548Gln	p.P548Q	ENST00000382179	15/20	336	275	61	321	321	0	strelka-varscan-mutect	BRSK2,missense_variant,p.Pro502Gln,ENST00000308219,NM_003957.3;BRSK2,missense_variant,p.Pro502Gln,ENST00000528841,NM_001256627.1;BRSK2,missense_variant,p.Pro548Gln,ENST00000382179,NM_001256630.1;BRSK2,missense_variant,p.Pro442Gln,ENST00000528710,NM_001282218.1;BRSK2,missense_variant,p.Pro502Gln,ENST00000531197,NM_001256629.1;BRSK2,missense_variant,p.Pro41Gln,ENST00000533606,;BRSK2,missense_variant,p.Pro524Gln,ENST00000526678,;BRSK2,5_prime_UTR_variant,,ENST00000544817,;BRSK2,missense_variant,p.Pro502Gln,ENST00000529433,;BRSK2,3_prime_UTR_variant,,ENST00000529951,;BRSK2,upstream_gene_variant,,ENST00000526768,;BRSK2,upstream_gene_variant,,ENST00000531932,;	A	ENST00000382179	Transcript	missense_variant	1896/3576	1643/2301	548/766	P/Q	cCg/cAg	rs765073528	1		1	BRSK2	HGNC	HGNC:11405	protein_coding	YES	CCDS58108.1	ENSP00000371614	Q8IWQ3		UPI000035E827	NM_001256630.1	tolerated(0.13)		15/20		hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF84																	MODERATE	1	SNV	2			1										PASS		rs765073528	.												A	3	1	92	1451380	1451380	C	A	1	0	0	0	0	1	0	0	0	1698	652	23	1		1	BRSK2	11	1451380	Missense_Mutation	SNP	C	C3N-02149_TP	208723	1451380	133635242	325	30257											
KRTAP5-5	0	.	GRCh38	chr11	1629927	1629927	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtggctccggctgtggAggctgtggctctggctgtgg	1	11	20	9	1	1	0	0	0	1	0	2	1	2	1	1	8	0	6	1	8	0	0	rs868519099		C3N-02149_TP	C3N-02149_NB	A	A																c.87A>G	p.=	p.G29G	ENST00000399676	1/1	307	291	16	318	317	1	varscan-mutect	KRTAP5-5,synonymous_variant,p.=,ENST00000399676,NM_001001480.2;	G	ENST00000399676	Transcript	synonymous_variant	153/933	87/714	29/237	G	ggA/ggG	rs868519099	1		1	KRTAP5-5	HGNC	HGNC:23601	protein_coding	YES	CCDS41592.1	ENSP00000382584	Q701N2		UPI0000E592E5	NM_001001480.2			1/1		hmmpanther:PTHR23262,Low_complexity_(Seg):seg																	LOW	1	SNV				1										PASS		rs868519099	.												G	2	3	92	1629927	1629927	A	G	1	0	0	0	0	0	0	0	1	8459	291	11	5		5	KRTAP5-5	11	1629927	Silent	SNP	A	C3N-02149_TP	178547	1629927	133456695	326	30258											
OR51B5	0	.	GRCh38	chr11	5343420	5343420	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccattgccaaaaaggatGgatatatacatgaacaagaa	18	8	9	6	0	0	2	0	1	0	1	0	4	0	4	2	2	4	0	2	2	8	4	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.105C>A	p.=	p.S35S	ENST00000300773	1/1	194	151	43	192	192	0	strelka-varscan-mutect	OR51B5,synonymous_variant,p.=,ENST00000300773,NM_001005567.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,non_coding_transcript_exon_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	T	ENST00000300773	Transcript	synonymous_variant	105/939	105/939	35/312	S	tcC/tcA		1		-1	OR51B5	HGNC	HGNC:19599	protein_coding	YES	CCDS31378.1	ENSP00000300773	Q9H339		UPI000013E697	NM_001005567.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF76,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW		SNV				1										PASS		.	.												T	2	4	92	5343420	5343420	G	T	1	0	0	0	0	0	0	0	1	11165	1335	47	2		2	OR51B5	11	5343420	Silent	SNP	G	C3N-02149_TP	3713493	5343420	129743202	327	30259											
OR51Q1	0	.	GRCh38	chr11	5422271	5422271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacatccctggatttgaggCctcccacatctggatctcca	8	10	9	14	0	2	1	0	1	2	0	5	4	4	4	4	4	0	0	4	4	0	1	rs760036060		C3N-02149_TP	C3N-02149_NB	C	C																c.71C>T	p.Ala24Val	p.A24V	ENST00000300778	1/1	237	190	47	218	218	0	strelka-varscan-mutect	OR51Q1,missense_variant,p.Ala24Val,ENST00000300778,NM_001004757.2;HBG2,intron_variant,,ENST00000380259,;HBE1,intron_variant,,ENST00000380237,;HBG2,intron_variant,,ENST00000380252,;HBE1,intron_variant,,ENST00000396895,;AC104389.28,intron_variant,,ENST00000415970,;AC104389.28,intron_variant,,ENST00000418729,;AC104389.28,intron_variant,,ENST00000420465,;AC104389.28,intron_variant,,ENST00000420726,;	T	ENST00000300778	Transcript	missense_variant	161/1096	71/954	24/317	A/V	gCc/gTc	rs760036060	1		1	OR51Q1	HGNC	HGNC:14851	protein_coding	YES	CCDS31381.1	ENSP00000300778	Q8NH59		UPI0000041BDB	NM_001004757.2	tolerated(0.38)		1/1		Gene3D:1.20.1070.10,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF84,Superfamily_domains:SSF81321																	MODERATE		SNV				1										PASS		rs760036060	.												T	3	4	92	5422271	5422271	C	T	1	0	0	0	0	1	0	0	0	11178	739	26	3		3	OR51Q1	11	5422271	Missense_Mutation	SNP	C	C3N-02149_TP	78851	5422271	129664351	328	30260											
OR56A1	0	.	GRCh38	chr11	6026892	6026892	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatggggaccttctttctGgccacgtttgtcaacaccac	7	12	8	14	1	3	0	1	0	2	0	4	1	4	1	4	3	1	1	4	3	1	3	rs144053540		C3N-02149_TP	C3N-02149_NB	G	G																c.813C>A	p.=	p.A271A	ENST00000316650	1/1	266	224	42	316	314	2	strelka-varscan-mutect	OR56A1,synonymous_variant,p.=,ENST00000316650,NM_001001917.2;	T	ENST00000316650	Transcript	synonymous_variant	850/1071	813/957	271/318	A	gcC/gcA	rs144053540	1		-1	OR56A1	HGNC	HGNC:14781	protein_coding	YES	CCDS31405.1	ENSP00000321246	Q8NGH5	A0A126GVB5	UPI000013FE4B	NM_001001917.2			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24248:SF62,hmmpanther:PTHR24248,Gene3D:1.20.1070.10,Pfam_domain:PF13853,SMART_domains:SM01381,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs144053540	.												T	2	4	92	6026892	6026892	G	T	1	0	0	0	0	0	0	0	1	11205	1335	47	2		2	OR56A1	11	6026892	Silent	SNP	G	C3N-02149_TP	604621	6026892	129059730	329	30261											
FAM160A2	0	.	GRCh38	chr11	6217146	6217146	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacatacatacaaggctcaGatgtaagtcaatactcaaac	17	8	7	9	0	3	1	3	0	0	1	3	2	3	2	0	2	4	2	0	2	7	4	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.2440C>G	p.Leu814Val	p.L814V	ENST00000524416	9/9	366	338	28	425	425	0	strelka-varscan-mutect	FAM160A2,missense_variant,p.Leu814Val,ENST00000524416,;FAM160A2,intron_variant,,ENST00000265978,NM_032127.3;FAM160A2,intron_variant,,ENST00000449352,NM_001098794.1;FAM160A2,upstream_gene_variant,,ENST00000529360,;FAM160A2,downstream_gene_variant,,ENST00000532797,;	C	ENST00000524416	Transcript	missense_variant	2751/3327	2440/2517	814/838	L/V	Ctg/Gtg		1		-1	FAM160A2	HGNC	HGNC:25378	protein_coding			ENSP00000431773		E9PJK5	UPI0001F78748				9/9																			MODERATE		SNV	2			1										PASS		.	.												C	3	2	92	6217146	6217146	G	C	1	0	0	0	0	1	0	0	0	5318	933	33	4		4	FAM160A2	11	6217146	Missense_Mutation	SNP	G	C3N-02149_TP	190254	6217146	128869476	330	30262											
CNGA4	0	.	GRCh38	chr11	6240112	6240112	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacaagggtaggatctcGagtcgctacgttcgcacctg	8	9	14	10	4	1	0	0	0	1	0	4	3	1	2	1	3	1	4	1	3	3	3	rs186291453		C3N-02149_TP	C3N-02149_NB	G	G																c.318G>T	p.=	p.S106S	ENST00000379936	4/6	151	118	33	152	152	0	strelka-varscan-mutect	CNGA4,synonymous_variant,p.=,ENST00000379936,NM_001037329.3;CNGA4,intron_variant,,ENST00000533426,;	T	ENST00000379936	Transcript	synonymous_variant	433/1863	318/1728	106/575	S	tcG/tcT	rs186291453,COSM544220	1		1	CNGA4	HGNC	HGNC:2152	protein_coding	YES	CCDS31408.1	ENSP00000369268	Q8IV77		UPI000004C7EC	NM_001037329.3			4/6		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF388,Superfamily_domains:SSF81324											0,1						LOW	1	SNV	2		0,1	1										PASS		rs186291453	.												T	2	4	92	6240112	6240112	G	T	1	0	0	0	0	0	0	0	1	3379	1045	37	1		1	CNGA4	11	6240112	Silent	SNP	G	C3N-02149_TP	22966	6240112	128846510	331	30263											
DCHS1	0	.	GRCh38	chr11	6631658	6631658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagctcctgaagcctgcagGaacgtggggctgttgtcgtt	6	10	15	10	2	0	1	0	1	0	0	2	2	1	2	2	3	4	6	2	3	2	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.3633C>A	p.Phe1211Leu	p.F1211L	ENST00000299441	7/21	56	47	9	54	54	0	strelka-varscan-mutect	DCHS1,missense_variant,p.Phe1211Leu,ENST00000299441,NM_003737.3;RP11-732A19.6,intron_variant,,ENST00000526633,;	T	ENST00000299441	Transcript	missense_variant	4045/10765	3633/9897	1211/3298	F/L	ttC/ttA		1		-1	DCHS1	HGNC	HGNC:13681	protein_coding	YES	CCDS7771.1	ENSP00000299441	Q96JQ0		UPI00001313B6	NM_003737.3	tolerated(0.09)		7/21		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF335,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	6631658	6631658	G	T	1	0	0	0	0	1	0	0	0	4090	1165	41	2		2	DCHS1	11	6631658	Missense_Mutation	SNP	G	C3N-02149_TP	391546	6631658	128454964	332	30264											
OR6A2	0	.	GRCh38	chr11	6795200	6795200	+	Frame_Shift_Del	DEL	C	C	-																															tggggccacagtaagagaggCcagaaataagaaaaactttg																								novel		C3N-02149_TP	C3N-02149_NB	C	C																c.509delG	p.Gly170AlafsTer44	p.G170Afs*44	ENST00000332601	1/1	353	290	63	409	409	0	sindel-varindel-pindel	OR6A2,frameshift_variant,p.Gly170AlafsTer44,ENST00000332601,NM_003696.2;	-	ENST00000332601	Transcript	frameshift_variant	584/1157	509/984	170/327	G/X	gGc/gc		1		-1	OR6A2	HGNC	HGNC:15301	protein_coding	YES	CCDS7772.1	ENSP00000330384	O95222	A0A126GW91	UPI0000061E92	NM_003696.2			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF234,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	HIGH	1	deletion				1										PASS		.	.												-	7	5	92	6795200	6795200	C	-	1	0	1	0	1	0	0	0	0	11254	739	26	0		0	OR6A2	11	6795200	Frame_Shift_Del	DEL	C	C3N-02149_TP	163542	6795200	128291422	333	30265											
NLRP14	0	.	GRCh38	chr11	7038713	7038713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaccatggaacctgagcatGgcctgacaccctggaatgaa	13	6	11	11	0	0	4	0	3	0	1	0	6	0	6	4	3	2	1	4	3	3	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.127G>T	p.Gly43Cys	p.G43C	ENST00000299481	2/12	279	229	50	301	301	0	strelka-varscan-mutect	NLRP14,missense_variant,p.Gly43Cys,ENST00000299481,NM_176822.3;	T	ENST00000299481	Transcript	missense_variant	473/3628	127/3282	43/1093	G/C	Ggc/Tgc		1		1	NLRP14	HGNC	HGNC:22939	protein_coding	YES	CCDS7776.1	ENSP00000299481	Q86W24		UPI0000167F6E	NM_176822.3	tolerated(0.57)		2/12		PROSITE_profiles:PS50824,hmmpanther:PTHR24106:SF154,hmmpanther:PTHR24106,Pfam_domain:PF02758,Gene3D:1.10.533.10,SMART_domains:SM01289,Superfamily_domains:SSF47986																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	92	7038713	7038713	G	T	1	0	0	0	0	1	0	0	0	10513	1348	47	2		2	NLRP14	11	7038713	Missense_Mutation	SNP	G	C3N-02149_TP	243513	7038713	128047909	334	30266											
NLRP14	0	.	GRCh38	chr11	7043105	7043105	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcactaaaaagcaatgAgatgctgtttagcatgtgcc	13	11	9	8	0	1	1	1	1	0	1	1	2	1	1	1	0	4	5	1	0	5	4	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1079A>T	p.Glu360Val	p.E360V	ENST00000299481	4/12	617	520	97	677	677	0	strelka-varscan-mutect	NLRP14,missense_variant,p.Glu360Val,ENST00000299481,NM_176822.3;	T	ENST00000299481	Transcript	missense_variant	1425/3628	1079/3282	360/1093	E/V	gAg/gTg		1		1	NLRP14	HGNC	HGNC:22939	protein_coding	YES	CCDS7776.1	ENSP00000299481	Q86W24		UPI0000167F6E	NM_176822.3	deleterious(0.02)		4/12		PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF154,hmmpanther:PTHR24106																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	92	7043105	7043105	A	T	1	0	0	0	0	1	0	0	0	10513	304	11	4		4	NLRP14	11	7043105	Missense_Mutation	SNP	A	C3N-02149_TP	4392	7043105	128043517	335	30267											
TRIM66	0	.	GRCh38	chr11	8647975	8647975	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actagcctgtgctacctgtcCtcaatttgctttgcagatgt	7	15	8	11	0	1	1	1	0	0	1	2	1	2	1	3	0	5	3	3	0	3	4			C3N-02149_TP	C3N-02149_NB	C	C																c.396G>A	p.=	p.E132E	ENST00000402157	7/22	220	177	43	235	235	0	strelka-varscan-mutect	TRIM66,synonymous_variant,p.=,ENST00000402157,;TRIM66,synonymous_variant,p.=,ENST00000299550,NM_014818.1;TRIM66,non_coding_transcript_exon_variant,,ENST00000531498,;TRIM66,non_coding_transcript_exon_variant,,ENST00000529057,;TRIM66,non_coding_transcript_exon_variant,,ENST00000481014,;	T	ENST00000402157	Transcript	synonymous_variant	837/10086	396/3738	132/1245	E	gaG/gaA	COSM5635027	1		-1	TRIM66	HGNC	HGNC:29005	protein_coding	YES		ENSP00000384876		B5MCJ9	UPI00016113E8				7/22		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF121,SMART_domains:SM00502											1						LOW	1	SNV	5		1	1										PASS		.	.												T	2	4	92	8647975	8647975	C	T	1	0	0	0	0	0	0	0	1	17035	695	24	3		3	TRIM66	11	8647975	Silent	SNP	C	C3N-02149_TP	1604870	8647975	126438647	336	30268											
IPO7	0	.	GRCh38	chr11	9438201	9438201	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttatccttttatttaacGgattgaaaagagcatatgcc	12	16	6	7	1	0	2	0	1	0	1	1	3	1	3	2	1	3	1	2	1	6	8	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.2611G>T	p.Gly871Ter	p.G871*	ENST00000379719	22/25	365	287	78	374	374	0	strelka-varscan-mutect	IPO7,stop_gained,p.Gly871Ter,ENST00000379719,NM_006391.2;CTD-2371O3.2,upstream_gene_variant,,ENST00000531111,;	T	ENST00000379719	Transcript	stop_gained	2753/6191	2611/3117	871/1038	G/*	Gga/Tga		1		1	IPO7	HGNC	HGNC:9852	protein_coding	YES	CCDS31425.1	ENSP00000369042	O95373		UPI0000072C06	NM_006391.2			22/25		hmmpanther:PTHR10997:SF27,hmmpanther:PTHR10997,Superfamily_domains:SSF48371																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	92	9438201	9438201	G	T	1	0	0	0	0	0	1	0	0	7700	1117	39	1		1	IPO7	11	9438201	Nonsense_Mutation	SNP	G	C3N-02149_TP	790226	9438201	125648421	337	30269											
CYP2R1	0	.	GRCh38	chr11	14879135	14879135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagggaaaaaggaaccaaagCttccttcttggcaaaatatc	16	9	8	8	0	1	0	0	0	1	0	3	2	2	2	2	3	2	2	2	3	8	5	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1309G>T	p.Ala437Ser	p.A437S	ENST00000334636	4/5	253	200	53	276	276	0	strelka-varscan-mutect	CYP2R1,missense_variant,p.Ala437Ser,ENST00000334636,NM_024514.4;CYP2R1,missense_variant,p.Ala204Ser,ENST00000532378,;CYP2R1,downstream_gene_variant,,ENST00000526489,;CYP2R1,downstream_gene_variant,,ENST00000526276,;CYP2R1,downstream_gene_variant,,ENST00000532641,;CYP2R1,downstream_gene_variant,,ENST00000529043,;CYP2R1,3_prime_UTR_variant,,ENST00000532805,;CYP2R1,3_prime_UTR_variant,,ENST00000530609,;CYP2R1,3_prime_UTR_variant,,ENST00000534686,;CYP2R1,3_prime_UTR_variant,,ENST00000525015,;	A	ENST00000334636	Transcript	missense_variant	1356/2235	1309/1506	437/501	A/S	Gct/Tct		1		-1	CYP2R1	HGNC	HGNC:20580	protein_coding	YES	CCDS7818.1	ENSP00000334592	Q6VVX0		UPI000003F04B	NM_024514.4	tolerated(0.62)		4/5		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF48,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	14879135	14879135	C	A	1	0	0	0	0	1	0	0	0	3976	797	28	2		2	CYP2R1	11	14879135	Missense_Mutation	SNP	C	C3N-02149_TP	5440934	14879135	120207487	338	30270											
SLC6A5	0	.	GRCh38	chr11	20626762	20626762	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcgtgatcctcctcatcCgaggagtcaccctgcctgga	7	10	9	15	2	2	1	2	1	0	0	6	4	5	3	5	2	2	0	5	2	1	1	rs142573911		C3N-02149_TP	C3N-02149_NB	C	C																c.1315C>A	p.=	p.R439R	ENST00000525748	8/16	547	467	80	532	531	1	strelka-varscan-mutect	SLC6A5,synonymous_variant,p.=,ENST00000525748,NM_004211.3;SLC6A5,upstream_gene_variant,,ENST00000528440,;SLC6A5,3_prime_UTR_variant,,ENST00000298923,;	A	ENST00000525748	Transcript	synonymous_variant	1588/7084	1315/2394	439/797	R	Cga/Aga	rs142573911,CM119605	1		1	SLC6A5	HGNC	HGNC:11051	protein_coding	YES	CCDS7854.1	ENSP00000434364	Q9Y345		UPI00004564A5	NM_004211.3			8/16		Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF158,Transmembrane_helices:TMhelix																	LOW	1	SNV	1		0,1	1										PASS		rs142573911	.												A	2	1	92	20626762	20626762	C	A	1	0	0	0	0	0	0	0	1	14970	644	23	1		1	SLC6A5	11	20626762	Silent	SNP	C	C3N-02149_TP	5747627	20626762	114459860	339	30271											
ANO3	0	.	GRCh38	chr11	26442096	26442096	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctataaccttaatctccacTgacaaagcagagcaaggtga	15	9	7	10	0	2	3	0	2	2	1	3	3	2	3	2	1	3	2	2	1	5	3	rs761188253		C3N-02149_TP	C3N-02149_NB	T	T																c.225T>G	p.=	p.T75T	ENST00000256737	2/27	162	133	29	188	188	0	strelka-varscan-mutect	ANO3,synonymous_variant,p.=,ENST00000256737,NM_031418.2;ANO3,synonymous_variant,p.=,ENST00000525139,;ANO3,synonymous_variant,p.=,ENST00000531646,;	G	ENST00000256737	Transcript	synonymous_variant	1077/6642	225/2946	75/981	T	acT/acG	rs761188253	1		1	ANO3	HGNC	HGNC:14004	protein_coding	YES	CCDS31447.1	ENSP00000256737	Q9BYT9		UPI00001F9ED8	NM_031418.2			2/27		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF16																	LOW	1	SNV	1			1										PASS		rs761188253	.												G	2	3	92	26442096	26442096	T	G	1	0	0	0	0	0	0	0	1	805	1567	55	5		5	ANO3	11	26442096	Silent	SNP	T	C3N-02149_TP	5815334	26442096	108644526	340	30272											
HSD17B12	0	.	GRCh38	chr11	43838326	43838326	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcctttttagatccaaaggGgctattctgaacatttcatc	10	16	6	9	0	2	2	1	1	1	1	5	2	4	2	2	2	1	1	2	2	4	7	rs775988662		C3N-02149_TP	C3N-02149_NB	G	G																c.546G>T	p.=	p.G182G	ENST00000278353	8/11	222	165	57	306	305	1	strelka-varscan-mutect	HSD17B12,synonymous_variant,p.=,ENST00000278353,NM_016142.2;HSD17B12,synonymous_variant,p.=,ENST00000637401,;HSD17B12,synonymous_variant,p.=,ENST00000531185,;HSD17B12,synonymous_variant,p.=,ENST00000638034,;RP11-613D13.5,intron_variant,,ENST00000530450,;RP11-613D13.5,upstream_gene_variant,,ENST00000499066,;RP11-613D13.5,upstream_gene_variant,,ENST00000524643,;RP11-472I20.4,non_coding_transcript_exon_variant,,ENST00000532864,;HSD17B12,non_coding_transcript_exon_variant,,ENST00000527213,;HSD17B12,non_coding_transcript_exon_variant,,ENST00000533802,;HSD17B12,missense_variant,p.Gly69Cys,ENST00000636007,;HSD17B12,3_prime_UTR_variant,,ENST00000527433,;HSD17B12,non_coding_transcript_exon_variant,,ENST00000533090,;HSD17B12,non_coding_transcript_exon_variant,,ENST00000534053,;	T	ENST00000278353	Transcript	synonymous_variant	816/2571	546/939	182/312	G	ggG/ggT	rs775988662	1		1	HSD17B12	HGNC	HGNC:18646	protein_coding	YES	CCDS7905.1	ENSP00000278353	Q53GQ0		UPI000004C79B	NM_016142.2			8/11		Gene3D:3.40.50.720,Pfam_domain:PF00106,PIRSF_domain:PIRSF000126,Prints_domain:PR00080,Prints_domain:PR00081,hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF573,Superfamily_domains:SSF51735,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs775988662	.												T	2	4	92	43838326	43838326	G	T	1	0	0	0	0	0	0	0	1	7276	1219	43	2		2	HSD17B12	11	43838326	Silent	SNP	G	C3N-02149_TP	17396230	43838326	91248296	341	30273											
OR8H1	0	.	GRCh38	chr11	56290899	56290899	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaatacatgggagtgtgaAgctggaggtccaggcggatt	13	8	15	5	1	0	1	0	1	0	0	1	4	1	4	1	5	2	1	1	5	4	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.164T>G	p.Leu55Arg	p.L55R	ENST00000313022	1/1	260	220	40	419	419	0	strelka-varscan-mutect	OR8H1,missense_variant,p.Leu55Arg,ENST00000313022,NM_001005199.1;OR8H1,missense_variant,p.Leu51Arg,ENST00000610894,;	C	ENST00000313022	Transcript	missense_variant	192/1038	164/936	55/311	L/R	cTt/cGt		1		-1	OR8H1	HGNC	HGNC:14824	protein_coding	YES	CCDS31526.1	ENSP00000323595	Q8NGG4	A0A126GVW6	UPI0000041BC0	NM_001005199.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF11,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	92	56290899	56290899	A	C	1	0	0	0	0	1	0	0	0	11305	72	3	5		5	OR8H1	11	56290899	Missense_Mutation	SNP	A	C3N-02149_TP	12452573	56290899	78795723	342	30274											
VWCE	0	.	GRCh38	chr11	61281904	61281904	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccaatggcctccgacaCtcgtttacatctgcgggaga	8	10	9	14	3	2	1	0	0	2	1	5	3	3	1	3	2	2	1	3	2	2	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.669G>A	p.=	p.E223E	ENST00000335613	7/20	105	77	28	131	131	0	strelka-varscan-mutect	VWCE,synonymous_variant,p.=,ENST00000335613,NM_152718.2;VWCE,5_prime_UTR_variant,,ENST00000613271,;VWCE,3_prime_UTR_variant,,ENST00000301770,;VWCE,downstream_gene_variant,,ENST00000535599,;VWCE,downstream_gene_variant,,ENST00000538579,;	T	ENST00000335613	Transcript	synonymous_variant	1056/3640	669/2868	223/955	E	gaG/gaA		1		-1	VWCE	HGNC	HGNC:26487	protein_coding	YES	CCDS8002.1	ENSP00000334186	Q96DN2		UPI000013E751	NM_152718.2			7/20		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	61281904	61281904	C	T	1	0	0	0	0	0	0	0	1	17804	564	20	3		3	VWCE	11	61281904	Silent	SNP	C	C3N-02149_TP	4991005	61281904	73804718	343	30275											
NRXN2	0	.	GRCh38	chr11	64651557	64651557	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaagttggagggcaccacGgagataaaccgccgctccgt	11	6	13	11	4	0	2	0	1	0	1	1	4	1	3	4	3	1	3	4	3	3	2	rs754628467		C3N-02149_TP	C3N-02149_NB	G	G																c.2616C>A	p.=	p.S872S	ENST00000265459	14/23	295	218	77	335	334	1	strelka-varscan-mutect	NRXN2,synonymous_variant,p.=,ENST00000265459,NM_015080.3;NRXN2,synonymous_variant,p.=,ENST00000377559,NM_138732.2;NRXN2,synonymous_variant,p.=,ENST00000409571,;NRXN2,synonymous_variant,p.=,ENST00000377551,;AP001092.4,intron_variant,,ENST00000433606,;NRXN2,non_coding_transcript_exon_variant,,ENST00000486057,;	T	ENST00000265459	Transcript	synonymous_variant	3078/6621	2616/5139	872/1712	S	tcC/tcA	rs754628467,COSM4965816	1		-1	NRXN2	HGNC	HGNC:8009	protein_coding	YES	CCDS8077.1	ENSP00000265459	Q9P2S2		UPI0000130AA2	NM_015080.3			14/23		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF593,SMART_domains:SM00282,Superfamily_domains:SSF49899											0,1						LOW		SNV	5		0,1	1										PASS		rs754628467	.												T	2	4	92	64651557	64651557	G	T	1	0	0	0	0	0	0	0	1	10725	1103	39	1		1	NRXN2	11	64651557	Silent	SNP	G	C3N-02149_TP	3369653	64651557	70435065	344	30276											
SSH3	0	.	GRCh38	chr11	67307679	67307679	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgaacagagctgcctcaatGagtggacggctatggccgac	10	6	13	12	3	1	2	1	1	0	1	1	5	1	3	3	3	3	2	3	3	3	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.733G>C	p.Glu245Gln	p.E245Q	ENST00000308127	7/14	234	218	16	247	247	0	strelka-varscan-mutect	SSH3,missense_variant,p.Glu99Gln,ENST00000376757,;SSH3,missense_variant,p.Glu245Gln,ENST00000308127,NM_017857.3;SSH3,missense_variant,p.Glu245Gln,ENST00000308298,;SSH3,missense_variant,p.Glu9Gln,ENST00000527821,;SSH3,intron_variant,,ENST00000532181,;SSH3,non_coding_transcript_exon_variant,,ENST00000529224,;SSH3,upstream_gene_variant,,ENST00000531495,;SSH3,downstream_gene_variant,,ENST00000534112,;SSH3,upstream_gene_variant,,ENST00000525913,;SSH3,missense_variant,p.Glu245Gln,ENST00000532881,;SSH3,downstream_gene_variant,,ENST00000532600,;	C	ENST00000308127	Transcript	missense_variant	911/2871	733/1980	245/659	E/Q	Gag/Cag		1		1	SSH3	HGNC	HGNC:30581	protein_coding	YES	CCDS8157.1	ENSP00000312081	Q8TE77	A0A024R5J4	UPI0000038D01	NM_017857.3	deleterious(0)		7/14		hmmpanther:PTHR10159:SF349,hmmpanther:PTHR10159																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	67307679	67307679	G	C	1	0	0	0	0	1	0	0	0	15562	1291	45	4		4	SSH3	11	67307679	Missense_Mutation	SNP	G	C3N-02149_TP	2656122	67307679	67778943	345	30277											
DLG2	0	.	GRCh38	chr11	83459835	83459835	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttataacttttcctttgAgggaatccagatgaaaggcc	13	13	8	7	0	0	3	0	2	0	1	2	4	2	4	3	2	1	0	3	2	5	6	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.2911T>A	p.Ser971Thr	p.S971T	ENST00000376104	28/28	177	145	32	194	194	0	strelka-varscan-mutect	DLG2,missense_variant,p.Ser866Thr,ENST00000398309,NM_001364.3;DLG2,missense_variant,p.Ser905Thr,ENST00000280241,NM_001206769.1;DLG2,missense_variant,p.Ser330Thr,ENST00000426717,NM_001142702.1;DLG2,missense_variant,p.Ser971Thr,ENST00000376104,NM_001142699.1;DLG2,missense_variant,p.Ser745Thr,ENST00000418306,NM_001142700.1;DLG2,missense_variant,p.Ser848Thr,ENST00000532653,NM_001300983.1;DLG2,missense_variant,p.Ser862Thr,ENST00000524982,;DLG2,missense_variant,p.Ser787Thr,ENST00000330014,;DLG2,missense_variant,p.Ser344Thr,ENST00000404783,;DLG2,downstream_gene_variant,,ENST00000531015,;DLG2,downstream_gene_variant,,ENST00000457267,;DLG2,non_coding_transcript_exon_variant,,ENST00000529159,;	T	ENST00000376104	Transcript	missense_variant	3223/5139	2911/2928	971/975	S/T	Tca/Aca		1		-1	DLG2	HGNC	HGNC:2901	protein_coding	YES	CCDS44690.1	ENSP00000365272	Q15700		UPI0000E59399	NM_001142699.1	tolerated(0.22)		28/28		hmmpanther:PTHR23119:SF6,hmmpanther:PTHR23119,PIRSF_domain:PIRSF001741,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	83459835	83459835	A	T	1	0	0	0	0	1	0	0	0	4362	304	11	4		4	DLG2	11	83459835	Missense_Mutation	SNP	A	C3N-02149_TP	16152156	83459835	51626787	346	30278											
FAT3	0	.	GRCh38	chr11	92801602	92801602	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccagcccgaaaaggtaatGgaagcattcaatattgacag	15	8	9	9	1	1	1	1	1	0	0	2	3	2	2	2	2	2	2	2	2	6	4	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.8139G>C	p.Met2713Ile	p.M2713I	ENST00000525166	9/27	177	125	52	197	197	0	strelka-varscan-mutect	FAT3,missense_variant,p.Met2863Ile,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Met2713Ile,ENST00000525166,;	C	ENST00000525166	Transcript	missense_variant	8161/18699	8139/13320	2713/4439	M/I	atG/atC		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895		tolerated(0.46)		9/27		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF49,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	92	92801602	92801602	G	C	1	0	0	0	0	1	0	0	0	5551	1348	47	4		4	FAT3	11	92801602	Missense_Mutation	SNP	G	C3N-02149_TP	9341767	92801602	42285020	347	30279											
CUL5	0	.	GRCh38	chr11	108094908	108094908	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactgaactggaggacttgaTaccggaagtagaagaattct	14	10	11	6	1	1	4	0	2	1	2	1	7	1	7	1	3	3	1	1	3	7	5	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1664T>C	p.Ile555Thr	p.I555T	ENST00000393094	15/19	170	127	43	269	269	0	strelka-varscan-mutect	CUL5,missense_variant,p.Ile555Thr,ENST00000393094,NM_003478.3;CUL5,missense_variant,p.Ile555Thr,ENST00000531427,;	C	ENST00000393094	Transcript	missense_variant	2280/6351	1664/2343	555/780	I/T	aTa/aCa		1		1	CUL5	HGNC	HGNC:2556	protein_coding	YES	CCDS31668.1	ENSP00000376808	Q93034		UPI00001380B0	NM_003478.3	deleterious(0)		15/19		Gene3D:1ldjA05,Pfam_domain:PF00888,PROSITE_profiles:PS50069,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF76,SMART_domains:SM00182,Superfamily_domains:SSF75632																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	108094908	108094908	T	C	1	0	0	0	0	1	0	0	0	3869	1406	49	5		5	CUL5	11	108094908	Missense_Mutation	SNP	T	C3N-02149_TP	15293306	108094908	26991714	348	30280											
PPP2R1B	0	.	GRCh38	chr11	111755309	111755309	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttacctctgaaaatctgtCagccaccatatagcgaacgc	12	10	6	13	2	3	1	1	1	2	0	3	2	3	1	3	0	4	0	3	0	6	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.829G>C	p.Asp277His	p.D277H	ENST00000311129	6/16	125	115	10	136	136	0	strelka-varscan-mutect	PPP2R1B,missense_variant,p.Asp277His,ENST00000527614,NM_002716.4;PPP2R1B,missense_variant,p.Asp277His,ENST00000311129,NM_181699.2;PPP2R1B,missense_variant,p.Asp277His,ENST00000341980,NM_001177562.1;PPP2R1B,missense_variant,p.Asp213His,ENST00000426998,NM_181700.1;PPP2R1B,missense_variant,p.Asp150His,ENST00000393055,NM_001177563.1;PPP2R1B,upstream_gene_variant,,ENST00000531890,;PPP2R1B,3_prime_UTR_variant,,ENST00000534521,;PPP2R1B,downstream_gene_variant,,ENST00000534500,;	G	ENST00000311129	Transcript	missense_variant	850/2082	829/2004	277/667	D/H	Gac/Cac		1		-1	PPP2R1B	HGNC	HGNC:9303	protein_coding	YES	CCDS8348.1	ENSP00000311344	P30154		UPI000006CEE0	NM_181699.2	deleterious(0.01)		6/16		Gene3D:1.25.10.10,Pfam_domain:PF13646,PROSITE_profiles:PS50077,hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF9,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	111755309	111755309	C	G	1	0	0	0	0	1	0	0	0	12506	826	29	4		4	PPP2R1B	11	111755309	Missense_Mutation	SNP	C	C3N-02149_TP	3660401	111755309	23331313	349	30281											
SIK3	0	.	GRCh38	chr11	116862236	116862236	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaatttgatggtgctgcTcctgctggtataacatatgc	9	13	12	7	0	0	2	0	1	0	1	1	3	1	2	1	3	5	4	1	3	4	4	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.2051A>T	p.Glu684Val	p.E684V	ENST00000375300	16/24	277	189	88	328	328	0	strelka-varscan-mutect	SIK3,missense_variant,p.Glu726Val,ENST00000445177,;SIK3,missense_variant,p.Glu684Val,ENST00000375300,NM_025164.4,NM_001281748.1;SIK3,missense_variant,p.Glu684Val,ENST00000446921,NM_001281749.1;SIK3,non_coding_transcript_exon_variant,,ENST00000488337,;SIK3,3_prime_UTR_variant,,ENST00000415541,;SIK3,non_coding_transcript_exon_variant,,ENST00000465421,;SIK3,upstream_gene_variant,,ENST00000480468,;	A	ENST00000375300	Transcript	missense_variant	2057/6213	2051/3966	684/1321	E/V	gAg/gTg		1		-1	SIK3	HGNC	HGNC:29165	protein_coding	YES	CCDS8379.2	ENSP00000364449		J3KPC8	UPI000066D90F	NM_025164.4,NM_001281748.1	deleterious_low_confidence(0)		16/24		Low_complexity_(Seg):seg,hmmpanther:PTHR22971:SF3,hmmpanther:PTHR22971																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	92	116862236	116862236	T	A	1	0	0	0	0	1	0	0	0	14583	1551	54	4		4	SIK3	11	116862236	Missense_Mutation	SNP	T	C3N-02149_TP	5106927	116862236	18224386	350	30282											
CBL	0	.	GRCh38	chr11	119278273	119278273	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtggacacctcatgtgCacatcctgtcttacatcctg	7	12	7	15	0	2	0	1	0	1	0	4	1	4	1	4	1	2	1	4	1	1	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1203C>T	p.=	p.C401C	ENST00000264033	8/16	510	484	26	592	592	0	strelka-varscan-mutect	CBL,synonymous_variant,p.=,ENST00000264033,NM_005188.3;CBL,synonymous_variant,p.=,ENST00000634840,;CBL,synonymous_variant,p.=,ENST00000634586,;CBL,synonymous_variant,p.=,ENST00000637974,;	T	ENST00000264033	Transcript	synonymous_variant	1345/11231	1203/2721	401/906	C	tgC/tgT		1		1	CBL	HGNC	HGNC:1541	protein_coding	YES	CCDS8418.1	ENSP00000264033	P22681		UPI000013D4A7	NM_005188.3			8/16		Gene3D:3.30.40.10,Pfam_domain:PF14447,PROSITE_patterns:PS00518,PROSITE_profiles:PS50089,hmmpanther:PTHR23007,hmmpanther:PTHR23007:SF5,SMART_domains:SM00184,Superfamily_domains:SSF57850																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	119278273	119278273	C	T	1	0	0	0	0	0	0	0	1	2401	718	25	3		3	CBL	11	119278273	Silent	SNP	C	C3N-02149_TP	2416037	119278273	15808349	351	30283											
GRAMD1B	0	.	GRCh38	chr11	123610255	123610255	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atagatgccgaagtcctcacCcacgacgtgccctaccatga	11	7	8	15	3	1	2	1	1	0	1	2	4	2	2	5	0	3	0	5	0	3	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1428C>A	p.=	p.T476T	ENST00000456860	14/21	337	259	78	396	396	0	strelka-varscan-mutect	GRAMD1B,synonymous_variant,p.=,ENST00000529750,NM_020716.2;GRAMD1B,synonymous_variant,p.=,ENST00000529432,NM_001286564.1;GRAMD1B,synonymous_variant,p.=,ENST00000638157,;GRAMD1B,synonymous_variant,p.=,ENST00000635736,;GRAMD1B,synonymous_variant,p.=,ENST00000456860,NM_001286563.1;GRAMD1B,synonymous_variant,p.=,ENST00000638086,;GRAMD1B,synonymous_variant,p.=,ENST00000322282,;GRAMD1B,synonymous_variant,p.=,ENST00000450171,;GRAMD1B,downstream_gene_variant,,ENST00000534764,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;GRAMD1B,upstream_gene_variant,,ENST00000525945,;	A	ENST00000456860	Transcript	synonymous_variant	1941/2805	1428/2238	476/745	T	acC/acA		1		1	GRAMD1B	HGNC	HGNC:29214	protein_coding	YES	CCDS66253.1	ENSP00000402457	Q3KR37		UPI000023753E	NM_001286563.1			14/21		hmmpanther:PTHR23319:SF3,hmmpanther:PTHR23319,Pfam_domain:PF16016																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	92	123610255	123610255	C	A	1	0	0	0	0	0	0	0	1	6627	610	22	2		2	GRAMD1B	11	123610255	Silent	SNP	C	C3N-02149_TP	4331982	123610255	11476367	352	30284											
OR8B12	0	.	GRCh38	chr11	124542857	124542857	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacactttcccttgctcgagGggcaggatggaaaggggttt	8	10	15	8	1	0	0	0	0	0	0	2	4	1	2	1	6	1	3	1	6	1	3			C3N-02149_TP	C3N-02149_NB	G	G																c.798C>T	p.=	p.P266P	ENST00000306842	1/1	295	212	83	337	337	0	strelka-varscan-mutect	OR8B12,synonymous_variant,p.=,ENST00000306842,NM_001005195.1;RP11-728D14.6,upstream_gene_variant,,ENST00000533869,;	A	ENST00000306842	Transcript	synonymous_variant	823/998	798/933	266/310	P	ccC/ccT	COSM1506947	1		-1	OR8B12	HGNC	HGNC:15307	protein_coding	YES	CCDS31711.1	ENSP00000307159	Q8NGG6	A0A126GWS7	UPI0000041E25	NM_001005195.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF267,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											1						LOW	1	SNV			1	1										PASS		.	.												A	2	1	92	124542857	124542857	G	A	1	0	0	0	0	0	0	0	1	11296	1219	43	3		3	OR8B12	11	124542857	Silent	SNP	G	C3N-02149_TP	932602	124542857	10543765	353	30285											
GALNT8	0	.	GRCh38	chr12	4811318	4811318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgaccacggtaggttacgGggacatgtaccccatgactg	11	8	12	10	2	0	2	0	2	0	0	0	3	0	3	3	4	2	3	3	4	4	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1277G>T	p.Gly426Val	p.G426V	ENST00000280684	1/1	202	181	21	220	220	0	strelka-varscan-mutect	GALNT8,missense_variant,p.Gly426Val,ENST00000433855,NM_002235.3;KCNA6,missense_variant,p.Gly426Val,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;	T	ENST00000280684	Transcript	missense_variant	2143/4237	1277/1590	426/529	G/V	gGg/gTg		1		1	KCNA6	HGNC	HGNC:6225	protein_coding	YES	CCDS8534.1	ENSP00000280684	P17658		UPI00001279AD		deleterious(0)		1/1		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF104,Superfamily_domains:SSF81324																	MODERATE		SNV				1										PASS		.	.												T	3	4	92	4811318	4811318	G	T	1	0	0	0	0	1	0	0	0	6090	1232	43	2		2	GALNT8	12	4811318	Missense_Mutation	SNP	G	C3N-02149_TP		4811318	128463991	354	30286											
CHD4	0	.	GRCh38	chr12	6601469	6601469	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgaactcccgccattttgCacccaaaaccatcatcatct	12	10	3	16	1	3	1	2	1	1	0	4	1	4	1	4	0	3	1	4	0	3	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.619G>T	p.Ala207Ser	p.A207S	ENST00000357008	6/40	406	376	30	369	369	0	strelka-varscan-mutect	CHD4,missense_variant,p.Ala204Ser,ENST00000544484,;CHD4,missense_variant,p.Ala200Ser,ENST00000544040,NM_001297553.1;CHD4,missense_variant,p.Ala207Ser,ENST00000357008,NM_001273.3;CHD4,missense_variant,p.Ala207Ser,ENST00000545942,;CHD4,downstream_gene_variant,,ENST00000545584,;CHD4,upstream_gene_variant,,ENST00000535810,;CHD4,upstream_gene_variant,,ENST00000536999,;CHD4,downstream_gene_variant,,ENST00000430771,;	A	ENST00000357008	Transcript	missense_variant	783/6496	619/5739	207/1912	A/S	Gca/Tca		1		-1	CHD4	HGNC	HGNC:1919	protein_coding	YES	CCDS8552.1	ENSP00000349508	Q14839		UPI000013C8EF	NM_001273.3	deleterious(0)		6/40		Pfam_domain:PF08073																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	6601469	6601469	C	A	1	0	0	0	0	1	0	0	0	3086	710	25	2		2	CHD4	12	6601469	Missense_Mutation	SNP	C	C3N-02149_TP	1790151	6601469	126673840	355	30287											
NANOGNB	0	.	GRCh38	chr12	7770025	7770025	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaagatccagaacaatcaActggaaattacagtgaagat	19	8	7	7	0	2	4	2	1	0	3	3	5	3	5	1	1	3	0	1	1	7	1	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.145A>T	p.Thr49Ser	p.T49S	ENST00000382119	2/4	178	169	9	207	207	0	strelka-varscan-mutect	NANOGNB,missense_variant,p.Thr49Ser,ENST00000382119,NM_001145465.1;	T	ENST00000382119	Transcript	missense_variant	215/907	145/567	49/188	T/S	Act/Tct		1		1	NANOGNB	HGNC	HGNC:24958	protein_coding	YES	CCDS44826.1	ENSP00000371553	Q7Z5D8		UPI00001B3DAD	NM_001145465.1	tolerated(0.21)		2/4		hmmpanther:PTHR12157																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	7770025	7770025	A	T	1	0	0	0	0	1	0	0	0	10158	43	2	4		4	NANOGNB	12	7770025	Missense_Mutation	SNP	A	C3N-02149_TP	1168556	7770025	125505284	356	30288											
KLRF2	0	.	GRCh38	chr12	9895781	9895781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtagctccacatttaaggGcatttgccagagagatgcga	11	10	11	9	1	0	2	0	0	0	2	1	4	1	2	2	1	3	3	2	1	2	4	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.572G>A	p.Gly191Asp	p.G191D	ENST00000535540	6/6	294	212	82	317	317	0	strelka-varscan-mutect	KLRF2,missense_variant,p.Gly191Asp,ENST00000535540,NM_001190765.1;CLEC2A,downstream_gene_variant,,ENST00000339766,NM_207375.2;	A	ENST00000535540	Transcript	missense_variant	679/731	572/624	191/207	G/D	gGc/gAc		1		1	KLRF2	HGNC	HGNC:37646	protein_coding	YES	CCDS53743.1	ENSP00000438244	D3W0D1		UPI0001CADE27	NM_001190765.1	tolerated(0.08)		6/6		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF147,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	9895781	9895781	G	A	1	0	0	0	0	1	0	0	0	8290	1203	42	3		3	KLRF2	12	9895781	Missense_Mutation	SNP	G	C3N-02149_TP	2125756	9895781	123379528	357	30289											
PRB2	0	.	GRCh38	chr12	11393908	11393908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgggggtggtccttgtGgctttcctggaggagatggg	3	13	19	6	0	0	1	0	0	0	1	2	3	2	2	2	7	0	1	2	7	0	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.170C>T	p.Pro57Leu	p.P57L	ENST00000389362	3/4	132	101	31	173	173	0	strelka-varscan-mutect	PRB2,missense_variant,p.Pro57Leu,ENST00000389362,NM_006248.3;PRB1,intron_variant,,ENST00000546254,;PRB2,downstream_gene_variant,,ENST00000565533,;PRB2,downstream_gene_variant,,ENST00000545829,;	A	ENST00000389362	Transcript	missense_variant	206/1429	170/1251	57/416	P/L	cCa/cTa		1		-1	PRB2	HGNC	HGNC:9338	protein_coding	YES	CCDS41757.2	ENSP00000374013	P02812		UPI0000EE5993	NM_006248.3	deleterious(0.01)		3/4		Low_complexity_(Seg):seg,Pfam_domain:PF15240,SMART_domains:SM01412																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	92	11393908	11393908	G	A	1	0	0	0	0	1	0	0	0	12574	1348	47	3		3	PRB2	12	11393908	Missense_Mutation	SNP	G	C3N-02149_TP	1498127	11393908	121881401	358	30290											
PRB2	0	.	GRCh38	chr12	11393958	11393958	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtttgttgcctccttgtggGggtgctccttgtggatttcc	1	17	14	9	0	0	0	0	0	0	0	3	1	3	1	4	4	2	3	4	4	0	5	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.120C>A	p.=	p.P40P	ENST00000389362	3/4	227	174	53	224	224	0	strelka-varscan-mutect	PRB2,synonymous_variant,p.=,ENST00000389362,NM_006248.3;PRB1,intron_variant,,ENST00000546254,;PRB2,downstream_gene_variant,,ENST00000565533,;PRB2,downstream_gene_variant,,ENST00000545829,;	T	ENST00000389362	Transcript	synonymous_variant	156/1429	120/1251	40/416	P	ccC/ccA		1		-1	PRB2	HGNC	HGNC:9338	protein_coding	YES	CCDS41757.2	ENSP00000374013	P02812		UPI0000EE5993	NM_006248.3			3/4		Low_complexity_(Seg):seg,hmmpanther:PTHR23203:SF2,hmmpanther:PTHR23203,Pfam_domain:PF15240,SMART_domains:SM01412																	LOW	1	SNV	5			1										PASS		rs1467532703	.												T	2	4	92	11393958	11393958	G	T	1	0	0	0	0	0	0	0	1	12574	1219	43	2		2	PRB2	12	11393958	Silent	SNP	G	C3N-02149_TP	50	11393958	121881351	359	30291											
ABCC9	0	.	GRCh38	chr12	21807466	21807466	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaattctccccaccttcAgtgacaaccgcatctaaatc	13	10	3	15	1	3	1	1	1	2	0	5	1	3	1	4	0	1	1	4	0	5	4	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.4329T>A	p.=	p.T1443T	ENST00000261200	36/38	565	387	178	674	674	0	strelka-varscan-mutect	ABCC9,synonymous_variant,p.=,ENST00000261200,NM_020297.3;ABCC9,synonymous_variant,p.=,ENST00000261201,NM_005691.3;ABCC9,synonymous_variant,p.=,ENST00000544039,;	T	ENST00000261200	Transcript	synonymous_variant	4329/8293	4329/4650	1443/1549	T	acT/acA		1		-1	ABCC9	HGNC	HGNC:60	protein_coding	YES	CCDS8693.1	ENSP00000261200	O60706		UPI000013D13F	NM_020297.3			36/38		PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF173,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	92	21807466	21807466	A	T	1	0	0	0	0	0	0	0	1	63	175	7	4		4	ABCC9	12	21807466	Silent	SNP	A	C3N-02149_TP	10413508	21807466	111467843	360	30292											
PPFIBP1	0	.	GRCh38	chr12	27671430	27671430	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttttgtaattacattacaGttccatactaccatcttgca	11	18	3	9	0	1	0	0	0	1	0	2	0	2	0	2	0	5	3	2	0	5	10	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1198-1G>T		p.X400_splice	ENST00000318304		60	40	20	91	91	0	strelka-varscan-mutect	PPFIBP1,splice_acceptor_variant,,ENST00000318304,NM_177444.2;PPFIBP1,splice_acceptor_variant,,ENST00000228425,NM_003622.3;PPFIBP1,splice_acceptor_variant,,ENST00000537927,NM_001198915.1;PPFIBP1,splice_acceptor_variant,,ENST00000542629,NM_001198916.1;PPFIBP1,splice_acceptor_variant,,ENST00000540114,;PPFIBP1,splice_acceptor_variant,,ENST00000537261,;PPFIBP1,upstream_gene_variant,,ENST00000619325,;	T	ENST00000318304	Transcript	splice_acceptor_variant	-/6001	1198/3036	400/1011				1		1	PPFIBP1	HGNC	HGNC:9249	protein_coding	YES	CCDS55812.1	ENSP00000314724	Q86W92		UPI00004565E6	NM_177444.2				13/28																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	92	27671430	27671430	G	T	1	0	0	0	0	0	0	1	0	12422	1043	36	2		2	PPFIBP1	12	27671430	Splice_Site	SNP	G	C3N-02149_TP	5863964	27671430	105603879	361	30293											
CAPRIN2	0	.	GRCh38	chr12	30724398	30724398	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctggagtagctgaaggCggttgtgacgttggaattgc	8	11	15	7	2	0	2	0	2	0	0	0	4	0	4	1	4	3	4	1	4	4	5	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1959G>T	p.=	p.P653P	ENST00000298892	10/17	229	164	65	305	305	0	strelka-varscan-mutect	CAPRIN2,synonymous_variant,p.=,ENST00000298892,NM_023925.4,NM_001002259.2;CAPRIN2,synonymous_variant,p.=,ENST00000395805,NM_001206856.2;CAPRIN2,synonymous_variant,p.=,ENST00000417045,NM_032156.4;CAPRIN2,synonymous_variant,p.=,ENST00000433722,;CAPRIN2,synonymous_variant,p.=,ENST00000537108,;CAPRIN2,non_coding_transcript_exon_variant,,ENST00000620681,;CAPRIN2,downstream_gene_variant,,ENST00000538387,;CAPRIN2,3_prime_UTR_variant,,ENST00000537553,;CAPRIN2,3_prime_UTR_variant,,ENST00000454014,NM_001319842.1;CAPRIN2,3_prime_UTR_variant,,ENST00000548676,;CAPRIN2,downstream_gene_variant,,ENST00000553026,;	A	ENST00000298892	Transcript	synonymous_variant	2710/4334	1959/3234	653/1077	P	ccG/ccT		1		-1	CAPRIN2	HGNC	HGNC:21259	protein_coding	YES	CCDS8720.1	ENSP00000298892	Q6IMN6		UPI000007080A	NM_023925.4,NM_001002259.2			10/17		Pfam_domain:PF12287,hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF5																	LOW	1	SNV	1			1										PASS		rs1036702394	.												A	2	1	92	30724398	30724398	C	A	1	0	0	0	0	0	0	0	1	2331	755	27	1		1	CAPRIN2	12	30724398	Silent	SNP	C	C3N-02149_TP	3052968	30724398	102550911	362	30294											
ABCD2	0	.	GRCh38	chr12	39619249	39619249	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccatccagaccagccacatAgatagaaagaaaggttcttg	15	8	8	10	0	1	4	0	0	1	4	3	4	3	4	4	1	1	1	4	1	4	4	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.367T>A	p.Tyr123Asn	p.Y123N	ENST00000308666	1/10	211	153	58	251	251	0	strelka-varscan-mutect	ABCD2,missense_variant,p.Tyr123Asn,ENST00000308666,NM_005164.3;	T	ENST00000308666	Transcript	missense_variant	503/6238	367/2223	123/740	Y/N	Tat/Aat		1		-1	ABCD2	HGNC	HGNC:66	protein_coding	YES	CCDS8734.1	ENSP00000310688	Q9UBJ2		UPI000004C4C6	NM_005164.3	deleterious(0)		1/10		PROSITE_profiles:PS50929,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24,Pfam_domain:PF06472,Superfamily_domains:SSF90123																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	39619249	39619249	A	T	1	0	0	0	0	1	0	0	0	65	420	15	4		4	ABCD2	12	39619249	Missense_Mutation	SNP	A	C3N-02149_TP	8894851	39619249	93656060	363	30295											
ASIC1	0	.	GRCh38	chr12	50077296	50077296	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaccatgaagggtgggacGggcaatgggctggaaatcat	13	6	16	6	1	1	2	1	1	0	1	1	4	1	4	1	5	0	2	1	5	4	0	rs202004622		C3N-02149_TP	C3N-02149_NB	G	G																c.642G>T	p.=	p.T214T	ENST00000228468	4/12	249	168	81	264	264	0	strelka-varscan-mutect	ASIC1,synonymous_variant,p.=,ENST00000228468,NM_020039.3;ASIC1,synonymous_variant,p.=,ENST00000447966,NM_001095.3;ASIC1,synonymous_variant,p.=,ENST00000552438,NM_001256830.1;ASIC1,synonymous_variant,p.=,ENST00000453327,;ASIC1,upstream_gene_variant,,ENST00000552633,;ASIC1,missense_variant,p.Gly242Trp,ENST00000550558,;ASIC1,non_coding_transcript_exon_variant,,ENST00000551199,;ASIC1,upstream_gene_variant,,ENST00000548350,;ASIC1,downstream_gene_variant,,ENST00000549792,;	T	ENST00000228468	Transcript	synonymous_variant	1027/4072	642/1725	214/574	T	acG/acT	rs202004622	1		1	ASIC1	HGNC	HGNC:100	protein_coding	YES	CCDS8796.1	ENSP00000228468	P78348		UPI000013C8D6	NM_020039.3			4/12		hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF170,Gene3D:2qtsA02,Pfam_domain:PF00858																	LOW	1	SNV	1			1										PASS		rs202004622	.												T	2	4	92	50077296	50077296	G	T	1	0	0	0	0	0	0	0	1	1185	1103	39	1		1	ASIC1	12	50077296	Silent	SNP	G	C3N-02149_TP	10458047	50077296	83198013	364	30296											
DIP2B	0	.	GRCh38	chr12	50660258	50660258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagaagatggctttgccCatgccaaccaaaaggcgatc	14	6	10	11	1	0	2	0	0	0	2	1	4	0	2	3	2	4	1	3	2	5	1			C3N-02149_TP	C3N-02149_NB	C	C																c.366C>T	p.=	p.P122P	ENST00000301180	4/38	202	183	19	227	227	0	strelka-varscan-mutect	DIP2B,synonymous_variant,p.=,ENST00000301180,NM_173602.2;RNU6-238P,downstream_gene_variant,,ENST00000363313,;DIP2B,non_coding_transcript_exon_variant,,ENST00000549620,;DIP2B,non_coding_transcript_exon_variant,,ENST00000546719,;	T	ENST00000301180	Transcript	synonymous_variant	400/8593	366/4731	122/1576	P	ccC/ccT	COSM3671095	1		1	DIP2B	HGNC	HGNC:29284	protein_coding	YES	CCDS31799.1	ENSP00000301180	Q9P265		UPI0000406CA1	NM_173602.2			4/38		Pfam_domain:PF06464,hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF22,SMART_domains:SM01137											1						LOW	1	SNV	5		1	1										PASS		.	.												T	2	4	92	50660258	50660258	C	T	1	0	0	0	0	0	0	0	1	4333	581	21	3		3	DIP2B	12	50660258	Silent	SNP	C	C3N-02149_TP	582962	50660258	82615051	365	30297											
SCN8A	0	.	GRCh38	chr12	51806911	51806911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcattgagtactgtaagctgGcagactttgcagatgccttg	9	13	11	8	0	1	3	1	1	0	2	1	3	1	3	1	1	4	5	1	1	2	5	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.5425G>T	p.Ala1809Ser	p.A1809S	ENST00000354534	27/27	217	180	37	215	215	0	strelka-varscan-mutect	SCN8A,missense_variant,p.Ala1809Ser,ENST00000354534,NM_014191.3;SCN8A,missense_variant,p.Ala1768Ser,ENST00000545061,NM_001177984.2;SCN8A,missense_variant,p.Ala1820Ser,ENST00000599343,;SCN8A,missense_variant,p.Ala1809Ser,ENST00000627620,;SCN8A,missense_variant,p.Ala1768Ser,ENST00000355133,;RP11-923I11.3,downstream_gene_variant,,ENST00000565518,;SCN8A,3_prime_UTR_variant,,ENST00000637709,;SCN8A,3_prime_UTR_variant,,ENST00000636945,;	T	ENST00000354534	Transcript	missense_variant	5603/11556	5425/5943	1809/1980	A/S	Gca/Tca		1		1	SCN8A	HGNC	HGNC:10596	protein_coding	YES	CCDS44891.1	ENSP00000346534	Q9UQD0		UPI000006FD85	NM_014191.3	tolerated(1)		27/27		hmmpanther:PTHR10037:SF23,hmmpanther:PTHR10037																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	51806911	51806911	G	T	1	0	0	0	0	1	0	0	0	14193	1203	42	2		2	SCN8A	12	51806911	Missense_Mutation	SNP	G	C3N-02149_TP	1146653	51806911	81468398	366	30298											
ANKRD33	0	.	GRCh38	chr12	51889135	51889135	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgctcagccactgtcctttCcttgatgtgaaccagcagga	8	11	9	13	0	1	2	1	2	0	0	3	3	3	3	4	1	4	2	4	1	1	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.465C>G	p.Phe155Leu	p.F155L	ENST00000301190	3/5	326	248	78	333	333	0	strelka-varscan-mutect	ANKRD33,missense_variant,p.Phe155Leu,ENST00000301190,NM_182608.3;ANKRD33,missense_variant,p.Phe20Leu,ENST00000340970,NM_001130015.1;ANKRD33,non_coding_transcript_exon_variant,,ENST00000547119,;ANKRD33,intron_variant,,ENST00000549316,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548526,;ANKRD33,non_coding_transcript_exon_variant,,ENST00000548383,;ANKRD33,intron_variant,,ENST00000549751,;ANKRD33,upstream_gene_variant,,ENST00000550652,;	G	ENST00000301190	Transcript	missense_variant	692/1935	465/1359	155/452	F/L	ttC/ttG		1		1	ANKRD33	HGNC	HGNC:13788	protein_coding	YES	CCDS8815.1	ENSP00000301190	Q7Z3H0		UPI00003668C0	NM_182608.3	tolerated(0.17)		3/5		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF29,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	92	51889135	51889135	C	G	1	0	0	0	0	1	0	0	0	765	854	30	4		4	ANKRD33	12	51889135	Missense_Mutation	SNP	C	C3N-02149_TP	82224	51889135	81386174	367	30299											
CBX5	0	.	GRCh38	chr12	54252228	54252228	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcccaagtattgtgctccCtgggtaagaaaaatgggaaa	13	10	11	7	0	0	1	0	0	0	1	2	2	2	2	2	2	1	4	2	2	6	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.138-1G>T		p.X46_splice	ENST00000209875		310	280	30	324	323	1	strelka-varscan-mutect	CBX5,splice_acceptor_variant,,ENST00000209875,NM_012117.2;CBX5,splice_acceptor_variant,,ENST00000439541,NM_001127321.1;CBX5,splice_acceptor_variant,,ENST00000550411,NM_001127322.1;CBX5,splice_acceptor_variant,,ENST00000552562,;RN7SL390P,downstream_gene_variant,,ENST00000470634,;CBX5,non_coding_transcript_exon_variant,,ENST00000547872,;	A	ENST00000209875	Transcript	splice_acceptor_variant	-/11528	138/576	46/191				1		-1	CBX5	HGNC	HGNC:1555	protein_coding	YES	CCDS8875.1	ENSP00000209875	P45973	V9HWG0	UPI00001271FC	NM_012117.2				2/4																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	92	54252228	54252228	C	A	1	0	0	0	0	0	0	1	0	2421	695	24	2		2	CBX5	12	54252228	Splice_Site	SNP	C	C3N-02149_TP	2363093	54252228	79023081	368	30300											
APOF	0	.	GRCh38	chr12	56361469	56361469	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccagaccttaatgcaggtTtaagtgcagcactgatcgct	10	10	9	12	1	0	2	0	1	0	1	1	2	0	2	3	1	3	5	3	1	2	3	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.737A>C	p.Lys246Thr	p.K246T	ENST00000398189	2/2	514	439	75	597	597	0	strelka-varscan-mutect	APOF,missense_variant,p.Lys246Thr,ENST00000398189,NM_001638.2;STAT2,upstream_gene_variant,,ENST00000314128,NM_005419.3;STAT2,upstream_gene_variant,,ENST00000557235,NM_198332.1;STAT2,upstream_gene_variant,,ENST00000418572,;STAT2,upstream_gene_variant,,ENST00000556140,;STAT2,upstream_gene_variant,,ENST00000557417,;STAT2,upstream_gene_variant,,ENST00000555646,;	G	ENST00000398189	Transcript	missense_variant	815/1715	737/981	246/326	K/T	aAa/aCa		1		-1	APOF	HGNC	HGNC:615	protein_coding	YES	CCDS44923.1	ENSP00000381250	Q13790		UPI0000167B1E	NM_001638.2	deleterious(0)		2/2		Pfam_domain:PF15148,hmmpanther:PTHR15011,hmmpanther:PTHR15011:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	56361469	56361469	T	G	1	0	0	0	0	1	0	0	0	925	1841	64	5		5	APOF	12	56361469	Missense_Mutation	SNP	T	C3N-02149_TP	2109241	56361469	76913840	369	30301											
AVPR1A	0	.	GRCh38	chr12	63150135	63150135	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcagatgaagccgtagcaGgtacccaagatgaccacggg	13	5	13	10	2	0	4	0	2	0	2	0	4	0	4	3	2	4	4	3	2	5	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.702C>A	p.=	p.T234T	ENST00000299178	1/2	501	439	62	598	598	0	strelka-varscan-mutect	AVPR1A,synonymous_variant,p.=,ENST00000299178,NM_000706.4;AVPR1A,synonymous_variant,p.=,ENST00000550940,;RP11-715H19.2,upstream_gene_variant,,ENST00000624438,;	T	ENST00000299178	Transcript	synonymous_variant	808/5963	702/1257	234/418	T	acC/acA		1		-1	AVPR1A	HGNC	HGNC:895	protein_coding	YES	CCDS8965.1	ENSP00000299178	P37288	X5D2B0	UPI0000050439	NM_000706.4			1/2		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF17,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV	1			1										PASS		rs1233023827	.												T	2	4	92	63150135	63150135	G	T	1	0	0	0	0	0	0	0	1	1387	987	35	2		2	AVPR1A	12	63150135	Silent	SNP	G	C3N-02149_TP	6788666	63150135	70125174	370	30302											
HELB	0	.	GRCh38	chr12	66331463	66331463	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagtcacagaccacgccAtgacaaatgatgtcacctgg	12	8	9	12	1	2	3	2	2	0	1	2	3	2	3	3	1	0	1	3	1	2	1	rs759121470		C3N-02149_TP	C3N-02149_NB	A	A																c.2980A>T	p.Met994Leu	p.M994L	ENST00000247815	12/13	255	211	44	293	293	0	strelka-varscan-mutect	HELB,missense_variant,p.Met994Leu,ENST00000247815,NM_033647.3;HELB,missense_variant,p.Met994Leu,ENST00000545134,;HELB,3_prime_UTR_variant,,ENST00000542394,;HELB,3_prime_UTR_variant,,ENST00000440906,;	T	ENST00000247815	Transcript	missense_variant	3039/12866	2980/3264	994/1087	M/L	Atg/Ttg	rs759121470	1		1	HELB	HGNC	HGNC:17196	protein_coding	YES	CCDS8976.1	ENSP00000247815	Q8NG08		UPI000013CC2D	NM_033647.3	tolerated(0.72)		12/13																			MODERATE	1	SNV	1			1										PASS		rs759121470	.												T	3	4	92	66331463	66331463	A	T	1	0	0	0	0	1	0	0	0	6927	217	8	4		4	HELB	12	66331463	Missense_Mutation	SNP	A	C3N-02149_TP	3181328	66331463	66943846	371	30303											
NAV3	0	.	GRCh38	chr12	78119921	78119921	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggatccaagtatccagAtattgcctcacccacatttc	11	10	6	14	0	1	1	1	0	0	1	4	2	3	2	5	1	1	1	5	1	3	4	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.3725A>T	p.Asp1242Val	p.D1242V	ENST00000397909	15/40	125	111	14	146	146	0	strelka-varscan-mutect	NAV3,missense_variant,p.Asp1242Val,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Asp1242Val,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Asp314Val,ENST00000552895,;NAV3,upstream_gene_variant,,ENST00000550788,;	T	ENST00000397909	Transcript	missense_variant	3898/9821	3725/7158	1242/2385	D/V	gAt/gTt		1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	deleterious(0)		15/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	78119921	78119921	A	T	1	0	0	0	0	1	0	0	0	10194	333	12	4		4	NAV3	12	78119921	Missense_Mutation	SNP	A	C3N-02149_TP	11788458	78119921	55155388	372	30304											
CRADD	0	.	GRCh38	chr12	93678970	93678970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atatcctaccttccaggggcCctaaagcatttgatacattc	11	12	6	12	0	0	1	0	1	0	0	3	1	2	1	4	2	3	1	4	2	5	7	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.196C>T	p.Pro66Ser	p.P66S	ENST00000542893	2/3	418	346	72	474	473	1	strelka-varscan-mutect	CRADD,missense_variant,p.Pro66Ser,ENST00000542893,NM_001320099.1;CRADD,missense_variant,p.Pro66Ser,ENST00000332896,NM_003805.3;CRADD,missense_variant,p.Pro66Ser,ENST00000548483,;CRADD,missense_variant,p.Pro66Ser,ENST00000552983,;CRADD,missense_variant,p.Pro66Ser,ENST00000552033,NM_001320101.1;CRADD,non_coding_transcript_exon_variant,,ENST00000549615,;CRADD,missense_variant,p.Pro66Ser,ENST00000551065,;	T	ENST00000542893	Transcript	missense_variant	514/1403	196/600	66/199	P/S	Cct/Tct		1		1	CRADD	HGNC	HGNC:2340	protein_coding	YES	CCDS9048.1	ENSP00000439068	P78560	Q53XL1	UPI00001283AA	NM_001320099.1	deleterious(0)		2/3		PROSITE_profiles:PS50209,hmmpanther:PTHR15034,Pfam_domain:PF00619,Gene3D:1.10.533.10,SMART_domains:SM00114,Superfamily_domains:SSF47986																	MODERATE	1	SNV	1			1										PASS		rs1407377581	.												T	3	4	92	93678970	93678970	C	T	1	0	0	0	0	1	0	0	0	3645	623	22	3		3	CRADD	12	93678970	Missense_Mutation	SNP	C	C3N-02149_TP	15559049	93678970	39596339	373	30305											
NTN4	0	.	GRCh38	chr12	95786989	95786989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatttagaagtacaaatagCgcccttcttgacaacatcat	14	12	6	9	1	2	2	1	1	1	1	2	2	2	2	1	0	3	2	1	0	7	7	rs142996736		C3N-02149_TP	C3N-02149_NB	C	C																c.535G>T	p.Ala179Ser	p.A179S	ENST00000343702	2/10	213	187	26	255	251	4	strelka-varscan-mutect	NTN4,missense_variant,p.Ala179Ser,ENST00000343702,NM_021229.3;NTN4,missense_variant,p.Ala142Ser,ENST00000344911,;NTN4,missense_variant,p.Ala142Ser,ENST00000538383,;NTN4,missense_variant,p.Ala179Ser,ENST00000553059,;NTN4,missense_variant,p.Ala142Ser,ENST00000547980,;	A	ENST00000343702	Transcript	missense_variant	984/3615	535/1887	179/628	A/S	Gct/Tct	rs142996736,COSM1217983	1		-1	NTN4	HGNC	HGNC:13658	protein_coding	YES	CCDS9054.1	ENSP00000340998	Q9HB63		UPI0000049824	NM_021229.3	tolerated(0.51)		2/10		PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF282,Pfam_domain:PF00055,SMART_domains:SM00136											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs142996736	.												A	3	1	92	95786989	95786989	C	A	1	0	0	0	0	1	0	0	0	10767	768	27	1		1	NTN4	12	95786989	Missense_Mutation	SNP	C	C3N-02149_TP	2108019	95786989	37488320	374	30306											
HAL	0	.	GRCh38	chr12	95993802	95993802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgataggaattacagttctgGcaaatttcccaaaacctgta	14	12	7	8	0	1	1	0	1	1	0	2	2	2	2	2	2	2	3	2	2	7	5			C3N-02149_TP	C3N-02149_NB	G	G																c.521C>T	p.Ala174Val	p.A174V	ENST00000261208	7/21	496	429	67	662	662	0	strelka-varscan-mutect	HAL,missense_variant,p.Ala174Val,ENST00000261208,NM_002108.3;HAL,missense_variant,p.Ala174Val,ENST00000538703,NM_001258334.1;HAL,missense_variant,p.Ala84Val,ENST00000546579,;HAL,intron_variant,,ENST00000541929,NM_001258333.1;HAL,intron_variant,,ENST00000552509,;RP11-256L6.3,upstream_gene_variant,,ENST00000551849,;HAL,upstream_gene_variant,,ENST00000551562,;HAL,intron_variant,,ENST00000544080,;HAL,intron_variant,,ENST00000546999,;HAL,upstream_gene_variant,,ENST00000549376,;	A	ENST00000261208	Transcript	missense_variant	890/3913	521/1974	174/657	A/V	gCc/gTc	COSM944726	1		-1	HAL	HGNC	HGNC:4806	protein_coding	YES	CCDS9058.1	ENSP00000261208	P42357		UPI000012CE8E	NM_002108.3	deleterious(0.02)		7/21		hmmpanther:PTHR10362,hmmpanther:PTHR10362:SF7,Gene3D:1.10.275.10,Pfam_domain:PF00221,TIGRFAM_domain:TIGR01225,Superfamily_domains:SSF48557											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	92	95993802	95993802	G	A	1	0	0	0	0	1	0	0	0	6833	1203	42	3		3	HAL	12	95993802	Missense_Mutation	SNP	G	C3N-02149_TP	206813	95993802	37281507	375	30307											
APAF1	0	.	GRCh38	chr12	98662553	98662553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaccagagacaagagtgttAcagattcagtaatgggtaag	16	8	11	6	0	1	3	1	0	0	3	1	4	1	3	1	1	2	3	1	1	5	4	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.808A>G	p.Thr270Ala	p.T270A	ENST00000551964	6/27	433	359	74	593	593	0	strelka-varscan-mutect	APAF1,missense_variant,p.Thr270Ala,ENST00000357310,NM_181868.1;APAF1,missense_variant,p.Thr259Ala,ENST00000359972,NM_001160.2;APAF1,missense_variant,p.Thr259Ala,ENST00000550527,NM_013229.2;APAF1,missense_variant,p.Thr270Ala,ENST00000551964,NM_181861.1;APAF1,missense_variant,p.Thr270Ala,ENST00000333991,NM_181869.1;APAF1,missense_variant,p.Thr270Ala,ENST00000547045,;APAF1,missense_variant,p.Thr270Ala,ENST00000549007,;APAF1,missense_variant,p.Thr270Ala,ENST00000552268,;	G	ENST00000551964	Transcript	missense_variant	1544/5444	808/3747	270/1248	T/A	Aca/Gca		1		1	APAF1	HGNC	HGNC:576	protein_coding	YES	CCDS9069.1	ENSP00000448165	O14727		UPI0000036328	NM_181861.1	tolerated(0.16)		6/27		Gene3D:3.40.50.300,Pfam_domain:PF00931,PIRSF_domain:PIRSF037646,hmmpanther:PTHR22845,hmmpanther:PTHR22845:SF5,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	98662553	98662553	A	G	1	0	0	0	0	1	0	0	0	875	391	14	5		5	APAF1	12	98662553	Missense_Mutation	SNP	A	C3N-02149_TP	2668751	98662553	34612756	376	30308											
RIC8B	0	.	GRCh38	chr12	106851448	106851448	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgcatttgtgccatcAggttttaccaccgttgaggg	6	16	11	8	1	1	1	1	1	0	0	1	1	1	1	3	2	3	4	3	2	1	6	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1162-2A>G		p.X388_splice	ENST00000392839		95	78	17	156	156	0	strelka-varscan-mutect	RIC8B,splice_acceptor_variant,,ENST00000392837,;RIC8B,splice_acceptor_variant,,ENST00000355478,;RIC8B,splice_acceptor_variant,,ENST00000392839,NM_018157.2;RIC8B,splice_acceptor_variant,,ENST00000548914,;RIC8B,intron_variant,,ENST00000549643,;RIC8B,splice_acceptor_variant,,ENST00000470960,;RIC8B,splice_acceptor_variant,,ENST00000462949,;RIC8B,splice_acceptor_variant,,ENST00000470628,;	G	ENST00000392839	Transcript	splice_acceptor_variant	-/2440	1162/1563	388/520				1		1	RIC8B	HGNC	HGNC:25555	protein_coding	YES	CCDS9109.2	ENSP00000376583	Q9NVN3		UPI00001FB46B	NM_018157.2				6/8																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	92	106851448	106851448	A	G	1	0	0	0	0	0	0	1	0	13530	202	7	5		5	RIC8B	12	106851448	Splice_Site	SNP	A	C3N-02149_TP	8188895	106851448	26423861	377	30309											
CIT	0	.	GRCh38	chr12	119869129	119869129	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgcattcttcaaagagaaCaaagagggcatctaatatcc	16	9	7	9	0	3	2	1	0	2	2	4	3	4	2	1	1	2	2	1	1	5	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.169G>C	p.Val57Leu	p.V57L	ENST00000392521	3/48	223	200	23	292	291	1	strelka-varscan-mutect	CIT,missense_variant,p.Val57Leu,ENST00000392521,NM_001206999.1;CIT,missense_variant,p.Val57Leu,ENST00000261833,NM_007174.2;CIT,missense_variant,p.Val57Leu,ENST00000612548,;	G	ENST00000392521	Transcript	missense_variant	225/8708	169/6210	57/2069	V/L	Gtt/Ctt		1		-1	CIT	HGNC	HGNC:1985	protein_coding	YES	CCDS55891.1	ENSP00000376306	O14578		UPI0000683C41	NM_001206999.1	tolerated(0.63)		3/48		PIRSF_domain:PIRSF038145,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26																	MODERATE	1	SNV	1			1										PASS		rs1225453765	.												G	3	3	92	119869129	119869129	C	G	1	0	0	0	0	1	0	0	0	3201	478	17	4		4	CIT	12	119869129	Missense_Mutation	SNP	C	C3N-02149_TP	13017681	119869129	13406180	378	30310											
RNF10	0	.	GRCh38	chr12	120534894	120534894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacagctcctccgcctcttCgggcagcagcaaagggcaac	10	5	10	16	2	1	0	0	0	1	0	4	0	3	0	3	2	5	5	3	2	3	1	rs763897888		C3N-02149_TP	C3N-02149_NB	C	C																c.83C>T	p.Ser28Leu	p.S28L	ENST00000325954	1/17	269	240	29	339	339	0	strelka-varscan-mutect	RNF10,missense_variant,p.Ser28Leu,ENST00000325954,NM_014868.4;RNF10,missense_variant,p.Ser28Leu,ENST00000413266,;RNF10,missense_variant,p.Ser28Leu,ENST00000542438,;RNF10,upstream_gene_variant,,ENST00000537997,;COQ5,upstream_gene_variant,,ENST00000551769,;RNF10,downstream_gene_variant,,ENST00000539486,;RNF10,non_coding_transcript_exon_variant,,ENST00000551139,;RNF10,missense_variant,p.Ser28Leu,ENST00000538796,;RNF10,missense_variant,p.Ser8Leu,ENST00000536869,;	T	ENST00000325954	Transcript	missense_variant	544/3825	83/2436	28/811	S/L	tCg/tTg	rs763897888	1		1	RNF10	HGNC	HGNC:10055	protein_coding	YES	CCDS9201.1	ENSP00000322242	Q8N5U6	A0A024RBP0	UPI000006D77E	NM_014868.4	deleterious_low_confidence(0.01)		1/17		Low_complexity_(Seg):seg,hmmpanther:PTHR12983																	MODERATE	1	SNV	1			1										PASS		rs763897888	.												T	3	4	92	120534894	120534894	C	T	1	0	0	0	0	1	0	0	0	13600	893	31	1		1	RNF10	12	120534894	Missense_Mutation	SNP	C	C3N-02149_TP	665765	120534894	12740415	379	30311											
OASL	0	.	GRCh38	chr12	121031617	121031617	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggagttgggaagagaaggcCctgaggagtgaaggagcaaa	14	4	19	4	0	0	3	0	2	0	1	0	8	0	7	1	5	1	2	1	5	4	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.482G>T	p.Gly161Val	p.G161V	ENST00000257570	3/6	104	91	13	107	107	0	strelka-varscan-mutect	OASL,missense_variant,p.Gly161Val,ENST00000257570,NM_003733.3;OASL,missense_variant,p.Gly161Val,ENST00000620239,NM_001261825.1;OASL,missense_variant,p.Gly161Val,ENST00000339275,NM_198213.2;OASL,missense_variant,p.Gly59Val,ENST00000543677,;	A	ENST00000257570	Transcript	missense_variant,splice_region_variant	753/3266	482/1545	161/514	G/V	gGg/gTg		1		-1	OASL	HGNC	HGNC:8090	protein_coding	YES	CCDS9211.1	ENSP00000257570	Q15646		UPI000005339E	NM_003733.3	deleterious(0)		3/6		Gene3D:3.30.460.10,hmmpanther:PTHR11258,hmmpanther:PTHR11258:SF16,Superfamily_domains:SSF81301																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	121031617	121031617	C	A	1	0	0	0	0	1	0	0	0	10881	637	22	2		2	OASL	12	121031617	Missense_Mutation	SNP	C	C3N-02149_TP	496723	121031617	12243692	380	30312											
KDM2B	0	.	GRCh38	chr12	121453321	121453321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgggcccagcttcccCttgggccgacccacagcccg	5	4	13	19	3	0	0	0	0	0	0	1	2	1	0	7	3	2	1	7	3	0	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1758G>T	p.Lys586Asn	p.K586N	ENST00000377071	13/23	135	109	26	152	152	0	strelka-varscan-mutect	KDM2B,missense_variant,p.Lys555Asn,ENST00000377069,NM_001005366.1;KDM2B,missense_variant,p.Lys586Asn,ENST00000377071,NM_032590.4;KDM2B,missense_variant,p.Lys469Asn,ENST00000611216,;KDM2B,missense_variant,p.Lys586Asn,ENST00000536437,;KDM2B,5_prime_UTR_variant,,ENST00000542973,;KDM2B,3_prime_UTR_variant,,ENST00000543025,;KDM2B,non_coding_transcript_exon_variant,,ENST00000538503,;KDM2B,non_coding_transcript_exon_variant,,ENST00000538243,;	A	ENST00000377071	Transcript	missense_variant	1831/4595	1758/4011	586/1336	K/N	aaG/aaT		1		-1	KDM2B	HGNC	HGNC:13610	protein_coding	YES	CCDS41850.1	ENSP00000366271	Q8NHM5		UPI000006F36E	NM_032590.4	deleterious(0.04)		13/23		hmmpanther:PTHR23123:SF10,hmmpanther:PTHR23123																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	121453321	121453321	C	A	1	0	0	0	0	1	0	0	0	8043	680	24	2		2	KDM2B	12	121453321	Missense_Mutation	SNP	C	C3N-02149_TP	421704	121453321	11821988	381	30313											
TMEM120B	0	.	GRCh38	chr12	121743645	121743645	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggagacgcacaggatctAcaagcagaagctggaggagc	14	4	14	9	1	2	2	1	0	1	2	2	6	2	5	0	4	4	3	0	4	3	1	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.86A>G	p.Tyr29Cys	p.Y29C	ENST00000449592	2/12	148	128	20	165	165	0	strelka-varscan-mutect	TMEM120B,missense_variant,p.Tyr29Cys,ENST00000449592,NM_001080825.2;TMEM120B,missense_variant,p.Tyr8Cys,ENST00000541467,;TMEM120B,missense_variant,p.Tyr29Cys,ENST00000342607,;	G	ENST00000449592	Transcript	missense_variant	187/7461	86/1020	29/339	Y/C	tAc/tGc		1		1	TMEM120B	HGNC	HGNC:32008	protein_coding	YES	CCDS41852.1	ENSP00000404991	A0PK00		UPI0000160852	NM_001080825.2	deleterious(0.01)		2/12		hmmpanther:PTHR21433,hmmpanther:PTHR21433:SF2,Pfam_domain:PF07851,Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	121743645	121743645	A	G	1	0	0	0	0	1	0	0	0	16478	391	14	5		5	TMEM120B	12	121743645	Missense_Mutation	SNP	A	C3N-02149_TP	290324	121743645	11531664	382	30314											
TMEM132C	0	.	GRCh38	chr12	128696077	128696077	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccgggtcctggttgggCgagaggttgggatgacgacc	7	7	18	9	3	0	2	0	1	0	1	1	5	1	3	3	5	1	2	3	5	0	2			C3N-02149_TP	C3N-02149_NB	C	C																c.1903C>A	p.=	p.R635R	ENST00000435159	7/9	111	98	13	158	158	0	strelka-varscan-mutect	TMEM132C,synonymous_variant,p.=,ENST00000435159,NM_001136103.2;	A	ENST00000435159	Transcript	synonymous_variant	1903/4947	1903/3327	635/1108	R	Cga/Aga	COSM3359613,COSM3359614	1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2			7/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4,Pfam_domain:PF16070											1,1						LOW	1	SNV	5		1,1	1										PASS		rs1376966220	.												A	2	1	92	128696077	128696077	C	A	1	0	0	0	0	0	0	0	1	16491	760	27	1		1	TMEM132C	12	128696077	Silent	SNP	C	C3N-02149_TP	6952432	128696077	4579232	383	30315											
SACS	0	.	GRCh38	chr13	23340713	23340713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtacttctatatcagggtCaaagagttcaccagctgata	13	12	8	8	0	4	2	3	1	1	1	4	2	4	2	1	1	2	3	1	1	6	7	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.3163G>T	p.Asp1055Tyr	p.D1055Y	ENST00000382292	9/9	77	67	10	96	96	0	strelka-varscan-mutect	SACS,missense_variant,p.Asp1055Tyr,ENST00000382292,NM_014363.5;SACS,missense_variant,p.Asp305Tyr,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	A	ENST00000382292	Transcript	missense_variant	3437/15324	3163/13740	1055/4579	D/Y	Gac/Tac		1		-1	SACS	HGNC	HGNC:10519	protein_coding	YES	CCDS9300.2	ENSP00000371729	Q9NZJ4		UPI000047039D	NM_014363.5	deleterious(0)		9/9		hmmpanther:PTHR15600,hmmpanther:PTHR15600:SF28																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	92	23340713	23340713	C	A	1	0	0	0	0	1	0	0	0	14063	826	29	2		2	SACS	13	23340713	Missense_Mutation	SNP	C	C3N-02149_TP		23340713	91023615	384	30316											
ATP12A	0	.	GRCh38	chr13	24698828	24698828	+	Silent	SNP	C	C	A																															acagcctacatggagctgggCgggttgggcgagcgtgtgct																								rs559369271		C3N-02149_TP	C3N-02149_NB	C	C																c.1701C>A	p.=	p.G567G	ENST00000218548	12/23	130	115	15	169	169	0	strelka-varscan-mutect	ATP12A,synonymous_variant,p.=,ENST00000381946,NM_001676.5;ATP12A,synonymous_variant,p.=,ENST00000218548,NM_001185085.1;RNY1P7,downstream_gene_variant,,ENST00000384743,;	A	ENST00000218548	Transcript	synonymous_variant	2034/3732	1701/3138	567/1045	G	ggC/ggA	rs559369271	1		1	ATP12A	HGNC	HGNC:13816	protein_coding	YES	CCDS53858.1	ENSP00000218548	P54707		UPI000006D1DE	NM_001185085.1			12/23		hmmpanther:PTHR24093:SF282,hmmpanther:PTHR24093,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01106,Superfamily_domains:SSF81660																	LOW	1	SNV	1			1										PASS		rs559369271	.												A	2	1	92	24698828	24698828	C	A	1	0	0	0	0	0	0	0	1	1274	755	27	1		1	ATP12A	13	24698828	Silent	SNP	C	C3N-02149_TP	1358115	24698828	89665500	385	30317	628	2									
ATP12A	0	.	GRCh38	chr13	24698829	24698829	+	Missense_Mutation	SNP	G	G	T																															cagcctacatggagctgggcGggttgggcgagcgtgtgctg																								rs757024432		C3N-02149_TP	C3N-02149_NB	G	G																c.1702G>T	p.Gly568Trp	p.G568W	ENST00000218548	12/23	131	108	23	168	167	1	strelka-varscan-mutect	ATP12A,missense_variant,p.Gly562Trp,ENST00000381946,NM_001676.5;ATP12A,missense_variant,p.Gly568Trp,ENST00000218548,NM_001185085.1;RNY1P7,downstream_gene_variant,,ENST00000384743,;	T	ENST00000218548	Transcript	missense_variant	2035/3732	1702/3138	568/1045	G/W	Ggg/Tgg	rs757024432	1		1	ATP12A	HGNC	HGNC:13816	protein_coding	YES	CCDS53858.1	ENSP00000218548	P54707		UPI000006D1DE	NM_001185085.1	deleterious(0)		12/23		hmmpanther:PTHR24093:SF282,hmmpanther:PTHR24093,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01106,Superfamily_domains:SSF81660																	MODERATE	1	SNV	1			1										PASS		rs757024432	.												T	3	4	92	24698829	24698829	G	T	1	0	0	0	0	1	0	0	0	1274	1116	39	1		1	ATP12A	13	24698829	Missense_Mutation	SNP	G	C3N-02149_TP	1	24698829	89665499	386	30318	628	2									
WASF3	0	.	GRCh38	chr13	26682647	26682647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtattacaacccatccGgaccacctcctccgccacct	9	9	5	18	2	0	1	0	1	0	0	3	2	3	2	8	1	2	1	8	1	3	3	rs201580275		C3N-02149_TP	C3N-02149_NB	G	G																c.1024G>A	p.Gly342Arg	p.G342R	ENST00000335327	9/10	595	556	39	689	689	0	strelka-varscan-mutect	WASF3,missense_variant,p.Gly339Arg,ENST00000361042,NM_001291965.1;WASF3,missense_variant,p.Gly342Arg,ENST00000335327,NM_006646.5;	A	ENST00000335327	Transcript	missense_variant	1202/4790	1024/1509	342/502	G/R	Gga/Aga	rs201580275,COSM5012651,COSM5012652	1		1	WASF3	HGNC	HGNC:12734	protein_coding	YES	CCDS9318.1	ENSP00000335055	Q9UPY6	Q5T8P4	UPI000013CEA7	NM_006646.5	tolerated(0.11)		9/10		hmmpanther:PTHR12902											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs201580275	.												A	3	1	92	26682647	26682647	G	A	1	0	0	0	0	1	0	0	0	17814	1117	39	1		1	WASF3	13	26682647	Missense_Mutation	SNP	G	C3N-02149_TP	1983818	26682647	87681681	387	30319											
TEX26	0	.	GRCh38	chr13	30932737	30932737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaacagcctgggcccaggGctccggatccctctctctgc	5	8	12	16	1	2	0	0	0	2	0	5	2	4	2	4	4	3	1	4	4	1	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.22G>T	p.Ala8Ser	p.A8S	ENST00000380473	1/7	154	130	24	219	219	0	strelka-varscan-mutect	TEX26,missense_variant,p.Ala8Ser,ENST00000380473,NM_152325.1;TEX26-AS1,intron_variant,,ENST00000591131,;TEX26-AS1,intron_variant,,ENST00000591300,;TEX26-AS1,intron_variant,,ENST00000587596,;TEX26-AS1,upstream_gene_variant,,ENST00000585870,;TEX26-AS1,upstream_gene_variant,,ENST00000588425,;TEX26-AS1,upstream_gene_variant,,ENST00000411835,;TEX26-AS1,upstream_gene_variant,,ENST00000589840,;TEX26-AS1,upstream_gene_variant,,ENST00000585582,;TEX26-AS1,upstream_gene_variant,,ENST00000586464,;TEX26-AS1,upstream_gene_variant,,ENST00000588726,;TEX26-AS1,upstream_gene_variant,,ENST00000593246,;TEX26-AS1,upstream_gene_variant,,ENST00000590344,;TEX26-AS1,upstream_gene_variant,,ENST00000592950,;TEX26-AS1,upstream_gene_variant,,ENST00000586973,;TEX26-AS1,upstream_gene_variant,,ENST00000429200,;TEX26-AS1,upstream_gene_variant,,ENST00000451495,;TEX26-AS1,upstream_gene_variant,,ENST00000590721,;TEX26,non_coding_transcript_exon_variant,,ENST00000479195,;TEX26,missense_variant,p.Ala5Ser,ENST00000531960,;	T	ENST00000380473	Transcript	missense_variant	35/1478	22/870	8/289	A/S	Gct/Tct		1		1	TEX26	HGNC	HGNC:28622	protein_coding	YES	CCDS9339.1	ENSP00000369840	Q8N6G2		UPI0000070D41	NM_152325.1	deleterious(0.02)		1/7		hmmpanther:PTHR33769:SF1,hmmpanther:PTHR33769																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	30932737	30932737	G	T	1	0	0	0	0	1	0	0	0	16205	1203	42	2		2	TEX26	13	30932737	Missense_Mutation	SNP	G	C3N-02149_TP	4250090	30932737	83431591	388	30320											
FRY	0	.	GRCh38	chr13	32078966	32078966	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaggagaatatgtcctcaAaagtttatttgtcaacttca	14	13	6	8	0	3	1	3	0	0	1	4	2	4	1	2	1	1	1	2	1	6	5	rs768798713		C3N-02149_TP	C3N-02149_NB	A	A																c.203A>T	p.Lys68Ile	p.K68I	ENST00000542859	2/61	392	333	59	523	523	0	strelka-varscan-mutect	FRY,missense_variant,p.Lys68Ile,ENST00000542859,NM_023037.2;FRY,missense_variant,p.Lys68Ile,ENST00000380250,;FRY,missense_variant,p.Lys65Ile,ENST00000436046,;	T	ENST00000542859	Transcript	missense_variant	699/13200	203/9042	68/3013	K/I	aAa/aTa	rs768798713	1		1	FRY	HGNC	HGNC:20367	protein_coding	YES	CCDS41875.1	ENSP00000445043	Q5TBA9		UPI000046FD40	NM_023037.2	deleterious(0)		2/61		hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29																	MODERATE	1	SNV	5			1										PASS		rs768798713	.												T	3	4	92	32078966	32078966	A	T	1	0	0	0	0	1	0	0	0	5935	14	1	4		4	FRY	13	32078966	Missense_Mutation	SNP	A	C3N-02149_TP	1146229	32078966	82285362	389	30321											
CCNA1	0	.	GRCh38	chr13	36437773	36437773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactagagcagggggacagaGacagctgctcggtcagagag	13	4	16	8	1	1	3	1	0	0	3	2	6	1	4	0	3	4	3	0	3	2	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.442G>T	p.Asp148Tyr	p.D148Y	ENST00000255465	3/9	284	225	59	345	345	0	strelka-varscan-mutect	CCNA1,missense_variant,p.Asp148Tyr,ENST00000255465,NM_003914.3;CCNA1,missense_variant,p.Asp104Tyr,ENST00000440264,NM_001111047.1,NM_001111046.1;CCNA1,missense_variant,p.Asp104Tyr,ENST00000630422,;CCNA1,missense_variant,p.Asp147Tyr,ENST00000625767,NM_001111045.1;	T	ENST00000255465	Transcript	missense_variant	706/1879	442/1398	148/465	D/Y	Gac/Tac		1		1	CCNA1	HGNC	HGNC:1577	protein_coding	YES	CCDS9357.1	ENSP00000255465	P78396		UPI000012759F	NM_003914.3	tolerated(0.21)		3/9		hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF254																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	36437773	36437773	G	T	1	0	0	0	0	1	0	0	0	2608	942	33	2		2	CCNA1	13	36437773	Missense_Mutation	SNP	G	C3N-02149_TP	4358807	36437773	77926555	390	30322											
PROSER1	0	.	GRCh38	chr13	39017508	39017508	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctacttactttgattcTgtataggttttgacggattc	7	20	8	6	1	1	2	0	2	1	0	2	3	1	3	0	2	3	3	0	2	4	10	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.767A>T	p.Gln256Leu	p.Q256L	ENST00000352251	10/13	323	290	33	423	423	0	strelka-varscan-mutect	PROSER1,missense_variant,p.Gln256Leu,ENST00000352251,NM_025138.4;PROSER1,missense_variant,p.Gln234Leu,ENST00000625998,;PROSER1,intron_variant,,ENST00000484434,;PROSER1,upstream_gene_variant,,ENST00000468017,;PROSER1,non_coding_transcript_exon_variant,,ENST00000602899,;PROSER1,non_coding_transcript_exon_variant,,ENST00000602512,;PROSER1,downstream_gene_variant,,ENST00000496138,;	A	ENST00000352251	Transcript	missense_variant	1601/5168	767/2835	256/944	Q/L	cAg/cTg		1		-1	PROSER1	HGNC	HGNC:20291	protein_coding	YES	CCDS9368.2	ENSP00000332034	Q86XN7		UPI00001FCC65	NM_025138.4	deleterious(0)		10/13		hmmpanther:PTHR14880,hmmpanther:PTHR14880:SF2																	MODERATE	1	SNV	1			1										PASS		rs1427926205	.												A	3	1	92	39017508	39017508	T	A	1	0	0	0	0	1	0	0	0	12693	1580	55	4		4	PROSER1	13	39017508	Missense_Mutation	SNP	T	C3N-02149_TP	2579735	39017508	75346820	391	30323											
ERICH6B	0	.	GRCh38	chr13	45544887	45544887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggagatgggctggacaGggggtgcgtggacatggatg	9	7	20	5	1	1	1	1	0	0	1	1	5	1	4	0	7	1	1	0	7	1	0	rs527763848		C3N-02149_TP	C3N-02149_NB	G	G																c.1745C>A	p.Pro582His	p.P582H	ENST00000298738	14/15	352	281	71	477	476	1	strelka-varscan-mutect	ERICH6B,missense_variant,p.Pro582His,ENST00000298738,NM_182542.2;ERICH6B,non_coding_transcript_exon_variant,,ENST00000482992,;ERICH6B,intron_variant,,ENST00000504261,;	T	ENST00000298738	Transcript	missense_variant	1910/2421	1745/2091	582/696	P/H	cCt/cAt	rs527763848	1		-1	ERICH6B	HGNC	HGNC:26523	protein_coding	YES	CCDS45045.1	ENSP00000298738	Q5W0A0		UPI000013E513	NM_182542.2	deleterious(0)		14/15		Pfam_domain:PF14977,hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF17																	MODERATE	1	SNV	2			1										PASS		rs527763848	.												T	3	4	92	45544887	45544887	G	T	1	0	0	0	0	1	0	0	0	5087	1000	35	2		2	ERICH6B	13	45544887	Missense_Mutation	SNP	G	C3N-02149_TP	6527379	45544887	68819441	392	30324											
LRCH1	0	.	GRCh38	chr13	46728916	46728916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcatggatggtgtcgtcCtctgccatctggtcaaccac	6	11	9	15	1	4	0	2	0	2	0	6	1	5	1	4	3	2	0	4	3	1	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1939C>T	p.Leu647Phe	p.L647F	ENST00000389797	18/20	127	118	9	199	199	0	strelka-varscan-mutect	LRCH1,missense_variant,p.Leu612Phe,ENST00000311191,NM_001164213.1;LRCH1,missense_variant,p.Leu612Phe,ENST00000389798,NM_015116.2;LRCH1,missense_variant,p.Leu647Phe,ENST00000389797,NM_001164211.1;	T	ENST00000389797	Transcript	missense_variant	2076/3314	1939/2292	647/763	L/F	Ctc/Ttc		1		1	LRCH1	HGNC	HGNC:20309	protein_coding	YES	CCDS53865.1	ENSP00000374447	Q9Y2L9		UPI00015DFE06	NM_001164211.1	deleterious(0)		18/20		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,SMART_domains:SM00033,Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	46728916	46728916	C	T	1	0	0	0	0	1	0	0	0	8826	681	24	3		3	LRCH1	13	46728916	Missense_Mutation	SNP	C	C3N-02149_TP	1184029	46728916	67635412	393	30325											
RASA3	0	.	GRCh38	chr13	113979384	113979384	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcggactgctgccggAtgtagttctggaagctcttg	6	12	14	9	2	3	0	0	0	3	0	4	3	3	3	1	4	3	4	1	4	2	3	rs771630619		C3N-02149_TP	C3N-02149_NB	A	A																c.2468T>A	p.Ile823Asn	p.I823N	ENST00000334062	24/24	268	245	23	307	306	1	strelka-varscan-mutect	RASA3,missense_variant,p.Ile823Asn,ENST00000334062,NM_001320822.1,NM_007368.2;	T	ENST00000334062	Transcript	missense_variant	2590/4191	2468/2505	823/834	I/N	aTc/aAc	rs771630619	1		-1	RASA3	HGNC	HGNC:20331	protein_coding	YES	CCDS32016.1	ENSP00000335029	Q14644		UPI000000DBC1	NM_001320822.1,NM_007368.2	deleterious(0.01)		24/24		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF53																	MODERATE	1	SNV	1			1										PASS		rs771630619	.												T	3	4	92	113979384	113979384	A	T	1	0	0	0	0	1	0	0	0	13221	333	12	4		4	RASA3	13	113979384	Missense_Mutation	SNP	A	C3N-02149_TP	67250468	113979384	384944	394	30326											
PSMB11	0	.	GRCh38	chr14	23042911	23042911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaccttttccacgtgcGggagagtggatgggagcatg	8	10	16	7	2	0	2	0	0	0	2	1	5	1	4	2	3	2	2	2	3	1	3	rs774869639		C3N-02149_TP	C3N-02149_NB	G	G																c.686G>A	p.Arg229Gln	p.R229Q	ENST00000408907	1/1	141	133	8	163	163	0	strelka-varscan-mutect	PSMB11,missense_variant,p.Arg229Gln,ENST00000408907,NM_001099780.1;CDH24,downstream_gene_variant,,ENST00000397359,NM_022478.3;CDH24,downstream_gene_variant,,ENST00000487137,NM_144985.3;CDH24,downstream_gene_variant,,ENST00000267383,;CDH24,downstream_gene_variant,,ENST00000554034,;CDH24,downstream_gene_variant,,ENST00000610348,;CDH24,downstream_gene_variant,,ENST00000485922,;	A	ENST00000408907	Transcript	missense_variant	745/2110	686/903	229/300	R/Q	cGg/cAg	rs774869639,COSM1587339,COSM1587340,COSM954607	1		1	PSMB11	HGNC	HGNC:31963	protein_coding	YES	CCDS41923.1	ENSP00000386212	A5LHX3		UPI00001D7B85	NM_001099780.1	tolerated(0.27)		1/1		Gene3D:3.60.20.10,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF48,Superfamily_domains:SSF56235											0,1,1,1						MODERATE		SNV			0,1,1,1	1										PASS		rs774869639	.												A	3	1	92	23042911	23042911	G	A	1	0	0	0	0	1	0	0	0	12827	1116	39	1		1	PSMB11	14	23042911	Missense_Mutation	SNP	G	C3N-02149_TP		23042911	84000807	395	30327											
DHRS2	0	.	GRCh38	chr14	23644458	23644458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctgctgggtctcactaGaacactggcattggagctgg	8	9	14	10	1	1	1	1	0	1	1	2	2	1	2	0	4	4	4	0	4	2	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.590G>T	p.Arg197Ile	p.R197I	ENST00000344777	7/9	283	240	43	404	404	0	strelka-varscan-mutect	DHRS2,missense_variant,p.Arg197Ile,ENST00000250383,NM_005794.3;DHRS2,missense_variant,p.Arg197Ile,ENST00000344777,NM_182908.4;DHRS2,missense_variant,p.Arg197Ile,ENST00000611765,;DHRS2,missense_variant,p.Arg113Ile,ENST00000557535,;DHRS2,missense_variant,p.Arg97Ile,ENST00000553600,;DHRS2,missense_variant,p.Arg197Ile,ENST00000432832,;DHRS2,downstream_gene_variant,,ENST00000553896,;DHRS2,non_coding_transcript_exon_variant,,ENST00000556729,;DHRS2,non_coding_transcript_exon_variant,,ENST00000556701,;DHRS2,non_coding_transcript_exon_variant,,ENST00000556550,;	T	ENST00000344777	Transcript	missense_variant	1028/1678	590/903	197/300	R/I	aGa/aTa		1		1	DHRS2	HGNC	HGNC:18349	protein_coding	YES	CCDS41927.1	ENSP00000344674	Q13268		UPI00001A3E34	NM_182908.4	deleterious(0)		7/9		Low_complexity_(Seg):seg,hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF322,PROSITE_patterns:PS00061,Gene3D:3.40.50.720,Pfam_domain:PF00106,Superfamily_domains:SSF51735,Prints_domain:PR00081,Prints_domain:PR00080																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	23644458	23644458	G	T	1	0	0	0	0	1	0	0	0	4295	942	33	2		2	DHRS2	14	23644458	Missense_Mutation	SNP	G	C3N-02149_TP	601547	23644458	83399260	396	30328											
FOXG1	0	.	GRCh38	chr14	28768684	28768684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttttacgacgggactgtctGggggactgtctgattatttc	6	15	13	7	2	2	1	0	1	2	0	3	4	2	3	0	3	1	1	0	3	2	4			C3N-02149_TP	C3N-02149_NB	G	G																c.1405G>T	p.Gly469Trp	p.G469W	ENST00000313071	1/1	313	280	33	282	282	0	strelka-varscan-mutect	FOXG1,missense_variant,p.Gly469Trp,ENST00000313071,NM_005249.4;LINC01551,upstream_gene_variant,,ENST00000399387,;LINC01551,upstream_gene_variant,,ENST00000552957,;LINC01551,upstream_gene_variant,,ENST00000548213,;FOXG1-AS1,upstream_gene_variant,,ENST00000551395,;FOXG1-AS1,upstream_gene_variant,,ENST00000546560,;FOXG1-AS1,upstream_gene_variant,,ENST00000549487,;FOXG1,downstream_gene_variant,,ENST00000637817,;FOXG1,downstream_gene_variant,,ENST00000636893,;FOXG1,downstream_gene_variant,,ENST00000636353,;FOXG1,downstream_gene_variant,,ENST00000637220,;FOXG1,downstream_gene_variant,,ENST00000636346,;FOXG1,downstream_gene_variant,,ENST00000636604,;FOXG1,downstream_gene_variant,,ENST00000637351,;	T	ENST00000313071	Transcript	missense_variant	3297/4890	1405/1470	469/489	G/W	Ggg/Tgg	COSM698030	1		1	FOXG1	HGNC	HGNC:3811	protein_coding	YES	CCDS9636.1	ENSP00000339004	P55316		UPI00001AE46C	NM_005249.4	deleterious_low_confidence(0)		1/1		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF165											1						MODERATE		SNV			1	1										PASS		.	.												T	3	4	92	28768684	28768684	G	T	1	0	0	0	0	1	0	0	0	5869	1348	47	2		2	FOXG1	14	28768684	Missense_Mutation	SNP	G	C3N-02149_TP	5124226	28768684	78275034	397	30329											
FAM179B	0	.	GRCh38	chr14	45032232	45032232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttttaggtgaaacacCtactggagctatttcacagt	10	16	8	7	0	1	1	1	1	0	0	1	2	1	2	1	2	3	2	1	2	4	7	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.3668C>G	p.Pro1223Arg	p.P1223R	ENST00000361462	11/20	170	134	36	201	201	0	varscan-mutect	FAM179B,missense_variant,p.Pro1223Arg,ENST00000361462,NM_001308120.1;FAM179B,missense_variant,p.Pro1223Arg,ENST00000361577,NM_015091.2;KLHL28,intron_variant,,ENST00000556239,;KLHL28,intron_variant,,ENST00000553817,;FAM179B,3_prime_UTR_variant,,ENST00000557423,;FAM179B,downstream_gene_variant,,ENST00000556105,;FAM179B,downstream_gene_variant,,ENST00000555586,;	G	ENST00000361462	Transcript	missense_variant	3851/6375	3668/5322	1223/1773	P/R	cCt/cGt		1		1	FAM179B	HGNC	HGNC:19959	protein_coding	YES	CCDS76676.1	ENSP00000354917		G3XAE9	UPI000022974E	NM_001308120.1	tolerated(0.08)		11/20		hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	45032232	45032232	C	G	1	0	0	0	0	1	0	0	0	5351	681	24	4		4	FAM179B	14	45032232	Missense_Mutation	SNP	C	C3N-02149_TP	16263548	45032232	62011486	398	30330											
SOS2	0	.	GRCh38	chr14	50174485	50174485	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagtagtgccaacagtgaTacactggcaccagcataaga	16	6	9	10	0	0	2	0	1	0	1	0	2	0	2	2	1	4	3	2	1	5	3	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1037A>G	p.Tyr346Cys	p.Y346C	ENST00000216373	8/23	96	81	15	140	140	0	strelka-varscan-mutect	SOS2,missense_variant,p.Tyr346Cys,ENST00000216373,NM_006939.2;SOS2,missense_variant,p.Tyr51Cys,ENST00000555794,;SOS2,intron_variant,,ENST00000543680,;	C	ENST00000216373	Transcript	missense_variant	1312/5498	1037/3999	346/1332	Y/C	tAt/tGt		1		-1	SOS2	HGNC	HGNC:11188	protein_coding	YES	CCDS9697.1	ENSP00000216373	Q07890		UPI000013C6E8	NM_006939.2	tolerated(0.1)		8/23		PROSITE_profiles:PS50010,hmmpanther:PTHR23113:SF150,hmmpanther:PTHR23113,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065																	MODERATE	1	SNV	1			1										PASS		rs1486068977	.												C	3	2	92	50174485	50174485	T	C	1	0	0	0	0	1	0	0	0	15259	1406	49	5		5	SOS2	14	50174485	Missense_Mutation	SNP	T	C3N-02149_TP	5142253	50174485	56869233	399	30331											
EXOC5	0	.	GRCh38	chr14	57268641	57268641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcgaagagctcggccgtgGtagccatcccggccggctga	6	6	14	15	5	0	2	0	1	0	1	3	3	1	2	5	4	2	3	5	4	2	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.8C>T	p.Thr3Ile	p.T3I	ENST00000621441	1/18	255	231	24	285	285	0	strelka-varscan-mutect	EXOC5,missense_variant,p.Thr3Ile,ENST00000621441,NM_006544.3;EXOC5,missense_variant,p.Thr3Ile,ENST00000413566,;EXOC5,missense_variant,p.Thr3Ile,ENST00000340918,;AP5M1,upstream_gene_variant,,ENST00000261558,NM_018229.3;AP5M1,upstream_gene_variant,,ENST00000431972,;AP5M1,upstream_gene_variant,,ENST00000556995,;EXOC5,upstream_gene_variant,,ENST00000556318,;AP5M1,upstream_gene_variant,,ENST00000554213,;EXOC5,missense_variant,p.Thr3Ile,ENST00000555148,;EXOC5,non_coding_transcript_exon_variant,,ENST00000554598,;EXOC5,non_coding_transcript_exon_variant,,ENST00000555749,;AP5M1,upstream_gene_variant,,ENST00000554931,;AP5M1,upstream_gene_variant,,ENST00000555448,;	A	ENST00000621441	Transcript	missense_variant	368/10589	8/2127	3/708	T/I	aCc/aTc		1		-1	EXOC5	HGNC	HGNC:10696	protein_coding	YES	CCDS45111.1	ENSP00000484855	O00471		UPI0000047E53	NM_006544.3	tolerated(0.09)		1/18		hmmpanther:PTHR12100:SF0,hmmpanther:PTHR12100																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	57268641	57268641	G	A	1	0	0	0	0	1	0	0	0	5175	1261	44	3		3	EXOC5	14	57268641	Missense_Mutation	SNP	G	C3N-02149_TP	7094156	57268641	49775077	400	30332											
DACT1	0	.	GRCh38	chr14	58645788	58645788	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgtctcacagggcaacAgtgtgaaccttaagaattcg	11	9	12	9	2	1	2	1	1	1	1	3	2	1	2	1	2	2	1	1	2	4	2	rs747687272		C3N-02149_TP	C3N-02149_NB	A	A																c.1165A>T	p.Ser389Cys	p.S389C	ENST00000335867	4/4	398	292	106	512	511	1	strelka-varscan-mutect	DACT1,missense_variant,p.Ser352Cys,ENST00000395153,NM_001079520.1;DACT1,missense_variant,p.Ser108Cys,ENST00000541264,;DACT1,missense_variant,p.Ser389Cys,ENST00000335867,NM_016651.5;DACT1,missense_variant,p.Ser108Cys,ENST00000556859,;DACT1,missense_variant,p.Ser108Cys,ENST00000421793,;DACT1,downstream_gene_variant,,ENST00000555845,;	T	ENST00000335867	Transcript	missense_variant	1189/2571	1165/2511	389/836	S/C	Agt/Tgt	rs747687272	1		1	DACT1	HGNC	HGNC:17748	protein_coding	YES	CCDS9736.1	ENSP00000337439	Q9NYF0		UPI000013E4D3	NM_016651.5	deleterious(0.04)		4/4		hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF12,Pfam_domain:PF15268																	MODERATE	1	SNV	2			1										PASS		rs747687272	.												T	3	4	92	58645788	58645788	A	T	1	0	0	0	0	1	0	0	0	4023	188	7	4		4	DACT1	14	58645788	Missense_Mutation	SNP	A	C3N-02149_TP	1377147	58645788	48397930	401	30333											
DACT1	0	.	GRCh38	chr14	58646706	58646706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggccctgaggagggccCggcgcggtcgccgggagaat	8	3	19	11	5	0	3	0	1	0	2	1	5	0	4	3	6	0	0	3	6	2	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2083C>T	p.Arg695Trp	p.R695W	ENST00000335867	4/4	332	310	22	321	321	0	strelka-varscan-mutect	DACT1,missense_variant,p.Arg658Trp,ENST00000395153,NM_001079520.1;DACT1,missense_variant,p.Arg414Trp,ENST00000541264,;DACT1,missense_variant,p.Arg695Trp,ENST00000335867,NM_016651.5;DACT1,missense_variant,p.Arg414Trp,ENST00000556859,;DACT1,downstream_gene_variant,,ENST00000421793,;DACT1,downstream_gene_variant,,ENST00000555845,;	T	ENST00000335867	Transcript	missense_variant	2107/2571	2083/2511	695/836	R/W	Cgg/Tgg		1		1	DACT1	HGNC	HGNC:17748	protein_coding	YES	CCDS9736.1	ENSP00000337439	Q9NYF0		UPI000013E4D3	NM_016651.5	deleterious(0)		4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF12,Pfam_domain:PF15268																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	92	58646706	58646706	C	T	1	0	0	0	0	1	0	0	0	4023	643	23	1		1	DACT1	14	58646706	Missense_Mutation	SNP	C	C3N-02149_TP	918	58646706	48397012	402	30334											
SYNE2	0	.	GRCh38	chr14	64051890	64051890	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgaagtctccagaagaacgGgcagggaaccaaagcatgat	15	5	12	9	1	1	4	0	2	1	2	2	5	1	5	2	2	3	2	2	2	5	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.7977G>T	p.=	p.R2659R	ENST00000358025	48/116	520	451	69	703	700	3	strelka-varscan-mutect	SYNE2,synonymous_variant,p.=,ENST00000358025,NM_182914.2;SYNE2,synonymous_variant,p.=,ENST00000344113,NM_015180.4;SYNE2,synonymous_variant,p.=,ENST00000357395,;SYNE2,synonymous_variant,p.=,ENST00000554584,;SYNE2,downstream_gene_variant,,ENST00000557005,;	T	ENST00000358025	Transcript	synonymous_variant	8189/21842	7977/20724	2659/6907	R	cgG/cgT		1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2			48/116		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF317																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	92	64051890	64051890	G	T	1	0	0	0	0	0	0	0	1	15838	1219	43	2		2	SYNE2	14	64051890	Silent	SNP	G	C3N-02149_TP	5405184	64051890	42991828	403	30335											
SYNE2	0	.	GRCh38	chr14	64087821	64087821	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctttacaacaaaaaataAtggaaagccttccacagatt	18	9	5	9	0	0	1	0	0	0	1	1	2	1	2	2	1	4	1	2	1	7	5	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.11635A>T	p.Met3879Leu	p.M3879L	ENST00000358025	58/116	158	134	24	235	234	1	strelka-varscan-mutect	SYNE2,missense_variant,p.Met3879Leu,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Met3879Leu,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Met3912Leu,ENST00000357395,;SYNE2,missense_variant,p.Met3912Leu,ENST00000554584,;SYNE2,missense_variant,p.Met513Leu,ENST00000555002,;SYNE2,missense_variant,p.Met264Leu,ENST00000394768,;ESR2,intron_variant,,ENST00000556275,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557060,;	T	ENST00000358025	Transcript	missense_variant	11847/21842	11635/20724	3879/6907	M/L	Atg/Ttg		1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2	tolerated(0.15)		58/116		Superfamily_domains:SSF46966																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	92	64087821	64087821	A	T	1	0	0	0	0	1	0	0	0	15838	101	4	4		4	SYNE2	14	64087821	Missense_Mutation	SNP	A	C3N-02149_TP	35931	64087821	42955897	404	30336											
HSPA2	0	.	GRCh38	chr14	64541498	64541498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtccatcctgaccatcgagGatggcatcttcgaggtgaag	9	10	12	10	2	1	2	0	2	1	0	5	5	3	3	3	3	0	1	3	3	1	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.649G>T	p.Asp217Tyr	p.D217Y	ENST00000394709	2/2	419	364	55	546	546	0	strelka-varscan-mutect	HSPA2,missense_variant,p.Asp217Tyr,ENST00000394709,;HSPA2,missense_variant,p.Asp217Tyr,ENST00000247207,NM_021979.3;RP11-973N13.4,upstream_gene_variant,,ENST00000554918,;HSPA2,non_coding_transcript_exon_variant,,ENST00000554883,;	T	ENST00000394709	Transcript	missense_variant	725/5400	649/1920	217/639	D/Y	Gat/Tat		1		1	HSPA2	HGNC	HGNC:5235	protein_coding	YES	CCDS9766.1	ENSP00000378199	P54652	A0A024R6B5	UPI000012CC6A		deleterious_low_confidence(0)		2/2		Gene3D:3.30.420.40,Pfam_domain:PF00012,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF216,Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	64541498	64541498	G	T	1	0	0	0	0	1	0	0	0	7307	1174	41	2		2	HSPA2	14	64541498	Missense_Mutation	SNP	G	C3N-02149_TP	453677	64541498	42502220	405	30337											
GPHN	0	.	GRCh38	chr14	66776510	66776510	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatagtaccagatgaaataGaagaaatcaaggtatagtat	20	9	9	3	0	1	5	1	1	0	4	1	5	1	5	1	1	1	3	1	1	10	6	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.190G>T	p.Glu64Ter	p.E64*	ENST00000478722	3/23	278	256	22	390	389	1	strelka-varscan-mutect	GPHN,stop_gained,p.Glu64Ter,ENST00000478722,NM_020806.4;GPHN,stop_gained,p.Glu64Ter,ENST00000315266,NM_001024218.1;GPHN,stop_gained,p.Glu64Ter,ENST00000543237,;GPHN,stop_gained,p.Glu64Ter,ENST00000459628,;GPHN,non_coding_transcript_exon_variant,,ENST00000556020,;GPHN,3_prime_UTR_variant,,ENST00000553936,;GPHN,3_prime_UTR_variant,,ENST00000555668,;GPHN,3_prime_UTR_variant,,ENST00000557654,;GPHN,intron_variant,,ENST00000556633,;	T	ENST00000478722	Transcript	stop_gained	1311/4297	190/2310	64/769	E/*	Gaa/Taa		1		1	GPHN	HGNC	HGNC:15465	protein_coding	YES	CCDS9777.1	ENSP00000417901	Q9NQX3		UPI0000072592	NM_020806.4			3/23		Gene3D:3.40.980.10,Pfam_domain:PF00994,hmmpanther:PTHR10192,SMART_domains:SM00852,Superfamily_domains:SSF53218,TIGRFAM_domain:TIGR00177																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	92	66776510	66776510	G	T	1	0	0	0	0	0	1	0	0	6512	943	33	2		2	GPHN	14	66776510	Nonsense_Mutation	SNP	G	C3N-02149_TP	2235012	66776510	40267208	406	30338											
MED6	0	.	GRCh38	chr14	70584920	70584920	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtttctggtataggttCtgcctctttctttgtttgat	5	21	8	7	0	4	1	0	1	4	0	4	1	4	1	1	2	2	4	1	2	3	8	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.634G>T	p.Glu212Ter	p.E212*	ENST00000615788	8/9	240	214	26	294	294	0	strelka-varscan-mutect	MED6,stop_gained,p.Glu212Ter,ENST00000256379,NM_005466.3;MED6,stop_gained,p.Glu212Ter,ENST00000615788,NM_001284211.1;MED6,stop_gained,p.Glu219Ter,ENST00000430055,NM_001284209.1;MED6,stop_gained,p.Glu212Ter,ENST00000554963,;MED6,missense_variant,p.Arg173Ile,ENST00000440435,NM_001284210.1;MED6,non_coding_transcript_exon_variant,,ENST00000555296,;	A	ENST00000615788	Transcript	stop_gained	687/1700	634/774	212/257	E/*	Gaa/Taa		1		-1	MED6	HGNC	HGNC:19970	protein_coding	YES	CCDS73649.1	ENSP00000481920		A0A087WYL7	UPI0001EF1523	NM_001284211.1			8/9		Low_complexity_(Seg):seg,hmmpanther:PTHR13104,PIRSF_domain:PIRSF023869																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	92	70584920	70584920	C	A	1	0	0	0	0	0	1	0	0	9390	922	32	2		2	MED6	14	70584920	Nonsense_Mutation	SNP	C	C3N-02149_TP	3808410	70584920	36458798	407	30339											
AREL1	0	.	GRCh38	chr14	74674051	74674051	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttttgttcctggacacaCtcggaaggtgtaaaggcgcc	9	11	11	10	2	0	0	0	0	0	0	2	2	1	2	2	4	1	2	2	4	4	5	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1141G>C	p.Val381Leu	p.V381L	ENST00000356357	9/20	222	209	13	258	258	0	strelka-varscan-mutect	AREL1,missense_variant,p.Val381Leu,ENST00000356357,NM_001039479.1;AREL1,missense_variant,p.Val220Leu,ENST00000556202,;AREL1,missense_variant,p.Val115Leu,ENST00000490805,;AREL1,non_coding_transcript_exon_variant,,ENST00000557401,;AREL1,missense_variant,p.Val381Leu,ENST00000555330,;AREL1,missense_variant,p.Val25Leu,ENST00000481010,;AREL1,non_coding_transcript_exon_variant,,ENST00000469797,;AREL1,non_coding_transcript_exon_variant,,ENST00000556327,;AREL1,downstream_gene_variant,,ENST00000553411,;AREL1,downstream_gene_variant,,ENST00000553279,;	G	ENST00000356357	Transcript	missense_variant	1657/5456	1141/2472	381/823	V/L	Gtg/Ctg		1		-1	AREL1	HGNC	HGNC:20363	protein_coding	YES	CCDS41971.1	ENSP00000348714	O15033		UPI0000073D44	NM_001039479.1	tolerated(0.57)		9/20		hmmpanther:PTHR11254:SF340,hmmpanther:PTHR11254																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	74674051	74674051	C	G	1	0	0	0	0	1	0	0	0	966	565	20	4		4	AREL1	14	74674051	Missense_Mutation	SNP	C	C3N-02149_TP	4089131	74674051	32369667	408	30340											
FLRT2	0	.	GRCh38	chr14	85622387	85622387	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaccaactgcggatgctGactcaaggggtttttgataa	13	10	10	8	1	1	2	1	2	0	0	1	3	1	3	1	3	5	2	1	3	5	3			C3N-02149_TP	C3N-02149_NB	G	G																c.873G>T	p.=	p.L291L	ENST00000330753	2/2	174	158	16	255	255	0	strelka-varscan-mutect	FLRT2,synonymous_variant,p.=,ENST00000330753,NM_013231.4;FLRT2,synonymous_variant,p.=,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;	T	ENST00000330753	Transcript	synonymous_variant	1640/33679	873/1983	291/660	L	ctG/ctT	COSM470301	1		1	FLRT2	HGNC	HGNC:3761	protein_coding	YES	CCDS9877.1	ENSP00000332879	O43155		UPI0000049E10	NM_013231.4			2/2		hmmpanther:PTHR24369:SF23,hmmpanther:PTHR24369,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	92	85622387	85622387	G	T	1	0	0	0	0	0	0	0	1	5795	1277	45	2		2	FLRT2	14	85622387	Silent	SNP	G	C3N-02149_TP	10948336	85622387	21421331	409	30341											
GALC	0	.	GRCh38	chr14	87934737	87934737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccctgttaagtattagcGtgtggcttccacaagaaagt	11	12	10	8	1	0	1	0	0	0	1	1	1	1	1	2	1	2	3	2	1	5	4	rs756141815		C3N-02149_TP	C3N-02149_NB	G	G																c.2053C>A	p.Arg685Ser	p.R685S	ENST00000261304	17/17	439	387	52	615	614	1	strelka-varscan-mutect	GALC,missense_variant,p.Arg685Ser,ENST00000261304,NM_000153.3;GALC,missense_variant,p.Arg659Ser,ENST00000393569,NM_001201402.1;GALC,missense_variant,p.Arg662Ser,ENST00000393568,NM_001201401.1;GALC,intron_variant,,ENST00000544807,;GALC,intron_variant,,ENST00000555000,;GALC,downstream_gene_variant,,ENST00000555179,;	T	ENST00000261304	Transcript	missense_variant	2160/3883	2053/2058	685/685	R/S	Cgc/Agc	rs756141815	1		-1	GALC	HGNC	HGNC:4115	protein_coding	YES	CCDS9878.2	ENSP00000261304		A0A0A0MQV0	UPI00001FD982	NM_000153.3	deleterious_low_confidence(0.03)		17/17		Pfam_domain:PF02057,hmmpanther:PTHR15172,hmmpanther:PTHR15172:SF1																	MODERATE	1	SNV	1			1										PASS		rs756141815	.												T	3	4	92	87934737	87934737	G	T	1	0	0	0	0	1	0	0	0	6069	1145	40	1		1	GALC	14	87934737	Missense_Mutation	SNP	G	C3N-02149_TP	2312350	87934737	19108981	410	30342											
CPSF2	0	.	GRCh38	chr14	92159028	92159028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctctcttcagttttgtaagGcaaaagatgctgaattagct	11	14	9	7	0	2	2	1	1	1	1	3	2	2	2	0	1	2	6	0	1	5	5	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1867G>T	p.Ala623Ser	p.A623S	ENST00000298875	14/16	142	129	13	215	215	0	strelka-varscan-mutect	CPSF2,missense_variant,p.Ala623Ser,ENST00000298875,NM_017437.2;CPSF2,missense_variant,p.Ala140Ser,ENST00000555244,;CPSF2,downstream_gene_variant,,ENST00000556622,;	T	ENST00000298875	Transcript	missense_variant	2152/13035	1867/2349	623/782	A/S	Gca/Tca		1		1	CPSF2	HGNC	HGNC:2325	protein_coding	YES	CCDS9902.1	ENSP00000298875	Q9P2I0	A0A024R6H0	UPI0000185F22	NM_017437.2	tolerated(0.17)		14/16		hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF5,Pfam_domain:PF13299																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	92159028	92159028	G	T	1	0	0	0	0	1	0	0	0	3621	1203	42	2		2	CPSF2	14	92159028	Missense_Mutation	SNP	G	C3N-02149_TP	4224291	92159028	14884690	411	30343											
BTBD7	0	.	GRCh38	chr14	93245914	93245914	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtctgtctgcccagtcCtgcagtgctggtacaatcag	7	10	10	14	1	3	0	1	0	2	0	4	0	4	0	3	1	4	3	3	1	2	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2494G>C	p.Gly832Arg	p.G832R	ENST00000334746	10/11	273	255	18	339	338	1	strelka-mutect	BTBD7,missense_variant,p.Gly832Arg,ENST00000334746,NM_001002860.3;BTBD7,missense_variant,p.Gly481Arg,ENST00000554565,NM_001289133.1;BTBD7,missense_variant,p.Gly447Arg,ENST00000553975,;BTBD7,3_prime_UTR_variant,,ENST00000355125,;RP11-85G20.2,downstream_gene_variant,,ENST00000492041,;	G	ENST00000334746	Transcript	missense_variant	2802/8430	2494/3399	832/1132	G/R	Gga/Cga		1		-1	BTBD7	HGNC	HGNC:18269	protein_coding	YES	CCDS32146.1	ENSP00000335615	Q9P203		UPI00001FDA78	NM_001002860.3	tolerated_low_confidence(0.08)		10/11		hmmpanther:PTHR16064																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	93245914	93245914	C	G	1	0	0	0	0	1	0	0	0	1722	690	24	4		4	BTBD7	14	93245914	Missense_Mutation	SNP	C	C3N-02149_TP	1086886	93245914	13797804	412	30344											
ATG2B	0	.	GRCh38	chr14	96303210	96303210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttctgagaggctggaatCacaatcaggtttgcatggcg	9	11	14	7	1	3	1	2	1	1	1	3	3	3	2	0	4	1	4	0	4	2	2			C3N-02149_TP	C3N-02149_NB	C	C																c.4888G>T	p.Asp1630Tyr	p.D1630Y	ENST00000359933	33/42	70	66	4	122	122	0	strelka-varscan-mutect	ATG2B,missense_variant,p.Asp1630Tyr,ENST00000359933,NM_018036.5;ATG2B,non_coding_transcript_exon_variant,,ENST00000261834,;	A	ENST00000359933	Transcript	missense_variant	5782/13684	4888/6237	1630/2078	D/Y	Gat/Tat	COSM265431	1		-1	ATG2B	HGNC	HGNC:20187	protein_coding	YES	CCDS9944.2	ENSP00000353010	Q96BY7		UPI000155D51F	NM_018036.5	deleterious(0.02)		33/42		hmmpanther:PTHR13190,hmmpanther:PTHR13190:SF20											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	92	96303210	96303210	C	A	1	0	0	0	0	1	0	0	0	1246	826	29	2		2	ATG2B	14	96303210	Missense_Mutation	SNP	C	C3N-02149_TP	3057296	96303210	10740508	413	30345											
HHIPL1	0	.	GRCh38	chr14	99662993	99662993	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaacaactactacccgtaCatcatctccttcggggagga	12	9	7	13	2	3	0	2	0	1	0	5	2	3	2	2	3	5	1	2	3	5	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1620C>A	p.Tyr540Ter	p.Y540*	ENST00000330710	6/9	125	113	12	116	116	0	strelka-varscan-mutect	HHIPL1,stop_gained,p.Tyr540Ter,ENST00000330710,NM_001127258.1;HHIPL1,stop_gained,p.Tyr540Ter,ENST00000357223,NM_032425.4;	A	ENST00000330710	Transcript	stop_gained	1718/7390	1620/2349	540/782	Y/*	taC/taA		1		1	HHIPL1	HGNC	HGNC:19710	protein_coding	YES	CCDS45162.1	ENSP00000330601	Q96JK4	F1T0G3	UPI000022988D	NM_001127258.1			6/9		Superfamily_domains:0046203,Gene3D:2.120.10.30,hmmpanther:PTHR19328,hmmpanther:PTHR19328:SF32																	HIGH	1	SNV	1			1										PASS		rs1401078911	.												A	4	1	92	99662993	99662993	C	A	1	0	0	0	0	0	1	0	0	6978	489	17	2		2	HHIPL1	14	99662993	Nonsense_Mutation	SNP	C	C3N-02149_TP	3359783	99662993	7380725	414	30346											
RTL1	0	.	GRCh38	chr14	100882072	100882072	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggggagatgttgcgggagTagaaagcgcagcaggctctc	10	7	17	7	2	1	2	0	0	1	2	2	4	1	3	0	4	3	5	0	4	3	3			C3N-02149_TP	C3N-02149_NB	T	T																c.2717A>T	p.Tyr906Phe	p.Y906F	ENST00000534062	1/1	157	148	9	205	205	0	strelka-varscan-mutect	RTL1,missense_variant,p.Tyr906Phe,ENST00000534062,NM_001134888.2;MEG8,intron_variant,,ENST00000637474,;MIR431,downstream_gene_variant,,ENST00000385266,;MIR127,upstream_gene_variant,,ENST00000384876,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR433,downstream_gene_variant,,ENST00000384837,;MIR136,upstream_gene_variant,,ENST00000385207,;	A	ENST00000534062	Transcript	missense_variant	2776/4193	2717/4077	906/1358	Y/F	tAc/tTc	COSM5667447	1		-1	RTL1	HGNC	HGNC:14665	protein_coding	YES	CCDS53910.1	ENSP00000435342	A6NKG5		UPI00001D7B9E	NM_001134888.2	tolerated(0.37)		1/1		hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF9,Superfamily_domains:SSF56672											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	92	100882072	100882072	T	A	1	0	0	0	0	1	0	0	0	13984	1638	57	4		4	RTL1	14	100882072	Missense_Mutation	SNP	T	C3N-02149_TP	1219079	100882072	6161646	415	30347											
KIF26A	0	.	GRCh38	chr14	104172573	104172573	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgattctcttgcccccctAggccgaagtctgctcgggga	5	10	11	15	2	2	1	0	1	2	0	4	3	2	2	5	3	2	1	5	3	2	3	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1327-2A>T		p.X443_splice	ENST00000423312		77	70	7	86	85	1	strelka-mutect	KIF26A,splice_acceptor_variant,,ENST00000315264,;KIF26A,splice_acceptor_variant,,ENST00000423312,NM_015656.1;	T	ENST00000423312	Transcript	splice_acceptor_variant	-/5649	1327/5649	443/1882				1		1	KIF26A	HGNC	HGNC:20226	protein_coding	YES	CCDS45171.1	ENSP00000388241	Q9ULI4		UPI00006C145D	NM_015656.1				6/14																		HIGH	1	SNV	5			1										PASS		.	.												T	5	4	92	104172573	104172573	A	T	1	0	0	0	0	0	0	1	0	8159	434	15	4		4	KIF26A	14	104172573	Splice_Site	SNP	A	C3N-02149_TP	3290501	104172573	2871145	416	30348											
SNRPN	0	.	GRCh38	chr15	24976990	24976990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggcccctgctggattGgcaggccctgtccgaggagt	5	7	14	15	1	0	0	0	0	0	0	1	3	1	2	6	5	1	2	6	5	0	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.381G>T	p.Leu127Phe	p.L127F	ENST00000400100	10/13	60	47	13	117	117	0	strelka-varscan-mutect	SNRPN,missense_variant,p.Leu131Phe,ENST00000554227,;SNRPN,missense_variant,p.Leu127Phe,ENST00000400100,NM_022807.2,NM_022808.2,NM_022806.2;SNRPN,missense_variant,p.Leu127Phe,ENST00000400097,NM_022805.2;SNRPN,missense_variant,p.Leu127Phe,ENST00000390687,;SNRPN,missense_variant,p.Leu127Phe,ENST00000346403,;SNRPN,missense_variant,p.Leu127Phe,ENST00000577565,NM_003097.3;SNRPN,missense_variant,p.Leu127Phe,ENST00000579070,;SNRPN,downstream_gene_variant,,ENST00000584968,;SNHG14,upstream_gene_variant,,ENST00000551631,;SNRPN,downstream_gene_variant,,ENST00000553597,;SNURF,3_prime_UTR_variant,,ENST00000580062,;RP11-701H24.9,intron_variant,,ENST00000551312,;RP11-701H24.9,intron_variant,,ENST00000557230,;SNHG14,upstream_gene_variant,,ENST00000557108,;	T	ENST00000400100	Transcript	missense_variant	1271/1751	381/723	127/240	L/F	ttG/ttT		1		1	SNRPN	HGNC	HGNC:11164	protein_coding	YES	CCDS10017.1	ENSP00000382972	P63162	X5DP00	UPI000002948A	NM_022807.2,NM_022808.2,NM_022806.2	deleterious(0)		10/13		PIRSF_domain:PIRSF037187,hmmpanther:PTHR10701,hmmpanther:PTHR10701:SF1,Superfamily_domains:SSF50182																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	24976990	24976990	G	T	1	0	0	0	0	1	0	0	0	15190	1339	47	2		2	SNRPN	15	24976990	Missense_Mutation	SNP	G	C3N-02149_TP		24976990	77014199	417	30349											
EPB42	0	.	GRCh38	chr15	43220813	43220813	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgagcgctggcttggctCaccctgtcccatggttgcag	4	11	13	13	2	1	0	1	0	0	0	3	1	2	0	2	3	2	5	2	3	0	2			C3N-02149_TP	C3N-02149_NB	C	C																c.13G>T	p.Glu5Ter	p.E5*	ENST00000300215	1/13	405	319	86	524	523	1	strelka-varscan-mutect	EPB42,stop_gained,p.Glu5Ter,ENST00000300215,NM_000119.2;EPB42,splice_region_variant,,ENST00000441366,NM_001114134.1;EPB42,splice_region_variant,,ENST00000622454,;EPB42,splice_region_variant,,ENST00000540029,;EPB42,upstream_gene_variant,,ENST00000568508,;	A	ENST00000300215	Transcript	stop_gained	471/4553	13/2166	5/721	E/*	Gag/Tag	COSM5271199	1		-1	EPB42	HGNC	HGNC:3381	protein_coding	YES	CCDS10093.1	ENSP00000300215	P16452		UPI000013E639	NM_000119.2			1/13													1						HIGH	1	SNV	1		1	1										PASS		rs1313275870	.												A	4	1	92	43220813	43220813	C	A	1	0	0	0	0	0	1	0	0	5005	840	29	2		2	EPB42	15	43220813	Nonsense_Mutation	SNP	C	C3N-02149_TP	18243823	43220813	58770376	418	30350											
DUOXA2	0	.	GRCh38	chr15	45116663	45116663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcggagaagttcacacCgagtagcccttgcggcctgt	7	8	13	13	3	1	1	1	0	0	1	1	3	1	1	4	3	2	2	4	3	2	3	rs778830755		C3N-02149_TP	C3N-02149_NB	C	C																c.488C>A	p.Pro163Gln	p.P163Q	ENST00000323030	4/6	313	252	61	331	329	2	strelka-varscan-mutect	DUOXA2,missense_variant,p.Pro163Gln,ENST00000323030,NM_207581.3;DUOX2,upstream_gene_variant,,ENST00000389039,;DUOX2,upstream_gene_variant,,ENST00000603300,NM_014080.4;DUOXA1,downstream_gene_variant,,ENST00000558996,NM_001276268.1;DUOXA1,downstream_gene_variant,,ENST00000267803,NM_144565.3;DUOXA1,downstream_gene_variant,,ENST00000559014,NM_001276264.1;DUOXA1,downstream_gene_variant,,ENST00000613425,;DUOXA1,downstream_gene_variant,,ENST00000558422,NM_001276267.1;DUOXA1,downstream_gene_variant,,ENST00000430224,NM_001276265.1;DUOXA1,downstream_gene_variant,,ENST00000560572,NM_001276266.1;DUOXA1,downstream_gene_variant,,ENST00000558377,;DUOXA1,downstream_gene_variant,,ENST00000559226,;DUOXA1,downstream_gene_variant,,ENST00000558326,;DUOXA1,downstream_gene_variant,,ENST00000559988,;DUOXA2,3_prime_UTR_variant,,ENST00000491993,;DUOXA2,non_coding_transcript_exon_variant,,ENST00000350243,;DUOX2,upstream_gene_variant,,ENST00000558383,;DUOXA1,downstream_gene_variant,,ENST00000559013,;	A	ENST00000323030	Transcript	missense_variant	773/1760	488/963	163/320	P/Q	cCg/cAg	rs778830755	1		1	DUOXA2	HGNC	HGNC:32698	protein_coding	YES	CCDS10118.2	ENSP00000319705	Q1HG44		UPI000049DDDD	NM_207581.3	tolerated(0.22)		4/6		hmmpanther:PTHR31158,hmmpanther:PTHR31158:SF2,Pfam_domain:PF10204																	MODERATE	1	SNV	1			1										PASS		rs778830755	.												A	3	1	92	45116663	45116663	C	A	1	0	0	0	0	1	0	0	0	4625	652	23	1		1	DUOXA2	15	45116663	Missense_Mutation	SNP	C	C3N-02149_TP	1895850	45116663	56874526	419	30351											
SEMA6D	0	.	GRCh38	chr15	47762235	47762235	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgccacagtggctgacttcTtggccagcgatgccgttatt	6	12	11	12	2	1	1	0	1	1	0	1	2	1	1	3	2	3	2	3	2	1	4	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.574T>G	p.Leu192Val	p.L192V	ENST00000316364	8/19	231	216	15	339	339	0	strelka-varscan-mutect	SEMA6D,missense_variant,p.Leu192Val,ENST00000316364,NM_153618.1;SEMA6D,missense_variant,p.Leu192Val,ENST00000558014,NM_001198999.1;SEMA6D,missense_variant,p.Leu192Val,ENST00000354744,NM_153617.1;SEMA6D,missense_variant,p.Leu192Val,ENST00000358066,NM_020858.1;SEMA6D,missense_variant,p.Leu192Val,ENST00000355997,NM_153619.1;SEMA6D,missense_variant,p.Leu192Val,ENST00000389428,NM_153616.1;SEMA6D,missense_variant,p.Leu192Val,ENST00000558816,;SEMA6D,missense_variant,p.Leu192Val,ENST00000536845,;SEMA6D,missense_variant,p.Leu192Val,ENST00000389425,NM_024966.2;SEMA6D,missense_variant,p.Leu192Val,ENST00000559196,;SEMA6D,upstream_gene_variant,,ENST00000560006,;SEMA6D,downstream_gene_variant,,ENST00000561133,;SEMA6D,upstream_gene_variant,,ENST00000559064,;SEMA6D,downstream_gene_variant,,ENST00000559184,;SEMA6D,downstream_gene_variant,,ENST00000560636,;SEMA6D,upstream_gene_variant,,ENST00000558431,;SEMA6D,downstream_gene_variant,,ENST00000561106,;	G	ENST00000316364	Transcript	missense_variant	1013/6099	574/3222	192/1073	L/V	Ttg/Gtg		1		1	SEMA6D	HGNC	HGNC:16770	protein_coding	YES	CCDS32225.1	ENSP00000324857	Q8NFY4		UPI000006E201	NM_153618.1	deleterious(0.02)		8/19		PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF65,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	47762235	47762235	T	G	1	0	0	0	0	1	0	0	0	14318	1606	56	5		5	SEMA6D	15	47762235	Missense_Mutation	SNP	T	C3N-02149_TP	2645572	47762235	54228954	420	30352											
HDC	0	.	GRCh38	chr15	50252710	50252710	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaaacccccggaactcGgggcacaggaaggcagtgcc	11	4	13	13	2	1	1	1	0	0	1	2	3	1	3	3	5	3	2	3	5	3	1	rs762914264		C3N-02149_TP	C3N-02149_NB	G	G																c.852C>T	p.=	p.P284P	ENST00000267845	8/12	361	282	79	424	424	0	strelka-varscan-mutect	HDC,synonymous_variant,p.=,ENST00000267845,NM_002112.3;HDC,synonymous_variant,p.=,ENST00000543581,NM_001306146.1;HDC,downstream_gene_variant,,ENST00000559683,;HDC,non_coding_transcript_exon_variant,,ENST00000559816,;HDC,downstream_gene_variant,,ENST00000558679,;HDC,downstream_gene_variant,,ENST00000558761,;HDC,downstream_gene_variant,,ENST00000559190,;	A	ENST00000267845	Transcript	synonymous_variant	1255/2705	852/1989	284/662	P	ccC/ccT	rs762914264	1		-1	HDC	HGNC	HGNC:4855	protein_coding	YES	CCDS10134.1	ENSP00000267845	P19113		UPI0000128FB4	NM_002112.3			8/12		Gene3D:3.40.640.10,Pfam_domain:PF00282,hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF68,Superfamily_domains:SSF53383																	LOW	1	SNV	1			1										PASS		rs762914264	.												A	2	1	92	50252710	50252710	G	A	1	0	0	0	0	0	0	0	1	6902	1103	39	1		1	HDC	15	50252710	Silent	SNP	G	C3N-02149_TP	2490475	50252710	51738479	421	30353											
UNC13C	0	.	GRCh38	chr15	54014506	54014506	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagatgcaacacctctcTggcactcacagagtgatttt	11	11	8	11	0	2	3	1	1	1	2	3	3	2	3	1	1	3	3	1	1	1	2	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1603T>A	p.Trp535Arg	p.W535R	ENST00000260323	1/32	156	118	38	160	160	0	strelka-varscan-mutect	UNC13C,missense_variant,p.Trp535Arg,ENST00000260323,NM_001080534.1;	A	ENST00000260323	Transcript	missense_variant	1603/12946	1603/6645	535/2214	W/R	Tgg/Agg		1		1	UNC13C	HGNC	HGNC:23149	protein_coding	YES	CCDS45264.1	ENSP00000260323	Q8NB66		UPI0000DD82AB	NM_001080534.1	deleterious_low_confidence(0)		1/32		hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	92	54014506	54014506	T	A	1	0	0	0	0	1	0	0	0	17510	1580	55	4		4	UNC13C	15	54014506	Missense_Mutation	SNP	T	C3N-02149_TP	3761796	54014506	47976683	422	30354											
RASGRF1	0	.	GRCh38	chr15	79017797	79017797	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcactggtccacgctgcCttctcctgtctggacgaggc	5	11	11	14	2	3	0	1	0	2	0	5	2	4	1	3	3	1	1	3	3	0	1			C3N-02149_TP	C3N-02149_NB	C	C																c.1716G>A	p.=	p.K572K	ENST00000419573	12/28	119	94	25	177	177	0	strelka-varscan-mutect	RASGRF1,synonymous_variant,p.=,ENST00000419573,NM_002891.4;RASGRF1,synonymous_variant,p.=,ENST00000558480,NM_001145648.1;RASGRF1,non_coding_transcript_exon_variant,,ENST00000560334,;	T	ENST00000419573	Transcript	synonymous_variant	1991/6294	1716/3822	572/1273	K	aaG/aaA	COSM5003293	1		-1	RASGRF1	HGNC	HGNC:9875	protein_coding	YES	CCDS10309.1	ENSP00000405963	Q13972		UPI000013D1F1	NM_002891.4			12/28		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,SMART_domains:SM00233,Superfamily_domains:SSF50729											1						LOW	1	SNV	2		1	1										PASS		.	.												T	2	4	92	79017797	79017797	C	T	1	0	0	0	0	0	0	0	1	13233	680	24	3		3	RASGRF1	15	79017797	Silent	SNP	C	C3N-02149_TP	25003291	79017797	22973392	423	30355											
IL16	0	.	GRCh38	chr15	81299991	81299991	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttctggactcttggggCgaggggctgcacccactctt	4	12	14	11	1	3	0	0	0	3	0	3	2	3	1	1	6	1	3	1	6	0	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2665C>T	p.Arg889Ter	p.R889*	ENST00000302987	13/18	50	40	10	73	72	1	strelka-varscan-mutect	IL16,stop_gained,p.Arg889Ter,ENST00000394660,NM_001172128.1;IL16,stop_gained,p.Arg889Ter,ENST00000302987,NM_172217.3;IL16,stop_gained,p.Arg188Ter,ENST00000394652,NM_004513.5;IL16,stop_gained,p.Arg193Ter,ENST00000558332,;RP11-761I4.4,downstream_gene_variant,,ENST00000607019,;IL16,non_coding_transcript_exon_variant,,ENST00000560230,;IL16,upstream_gene_variant,,ENST00000559342,;IL16,3_prime_UTR_variant,,ENST00000360547,;IL16,3_prime_UTR_variant,,ENST00000560115,;IL16,3_prime_UTR_variant,,ENST00000558857,;	T	ENST00000302987	Transcript	stop_gained	2665/3999	2665/3999	889/1332	R/*	Cga/Tga		1		1	IL16	HGNC	HGNC:5980	protein_coding	YES	CCDS42069.1	ENSP00000302935	Q14005		UPI0000229CE7	NM_172217.3			13/18		hmmpanther:PTHR11324:SF2,hmmpanther:PTHR11324																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	92	81299991	81299991	C	T	1	0	0	0	0	0	1	0	0	7541	760	27	1		1	IL16	15	81299991	Nonsense_Mutation	SNP	C	C3N-02149_TP	2282194	81299991	20691198	424	30356											
BNC1	0	.	GRCh38	chr15	83263218	83263218	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagtcccccagccagcAggcgctgctgcagttccatg	8	7	12	14	1	0	2	0	1	0	1	2	2	2	2	4	1	4	5	4	1	1	1	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.2033T>C	p.Leu678Pro	p.L678P	ENST00000345382	4/5	297	230	67	444	444	0	strelka-varscan-mutect	BNC1,missense_variant,p.Leu678Pro,ENST00000345382,NM_001717.3;BNC1,missense_variant,p.Leu671Pro,ENST00000569704,NM_001301206.1;RP11-382A20.4,intron_variant,,ENST00000565495,;	G	ENST00000345382	Transcript	missense_variant	2119/4610	2033/2985	678/994	L/P	cTg/cCg		1		-1	BNC1	HGNC	HGNC:1081	protein_coding	YES	CCDS10324.1	ENSP00000307041	Q01954		UPI0000126796	NM_001717.3	deleterious(0.01)		4/5		hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	83263218	83263218	A	G	1	0	0	0	0	1	0	0	0	1630	188	7	5		5	BNC1	15	83263218	Missense_Mutation	SNP	A	C3N-02149_TP	1963227	83263218	18727971	425	30357											
PDE8A	0	.	GRCh38	chr15	85113993	85113993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccacagtttggtgctaaaGatgatgatccccatgccaat	12	10	8	11	0	0	3	0	2	0	1	1	3	1	3	4	1	2	2	4	1	3	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1306G>C	p.Asp436His	p.D436H	ENST00000310298	15/23	221	186	35	297	297	0	strelka-varscan-mutect	PDE8A,missense_variant,p.Asp436His,ENST00000310298,;PDE8A,missense_variant,p.Asp436His,ENST00000394553,NM_002605.2;PDE8A,missense_variant,p.Asp364His,ENST00000557957,NM_001243137.1;PDE8A,missense_variant,p.Asp390His,ENST00000339708,NM_173454.1;PDE8A,downstream_gene_variant,,ENST00000557819,;PDE8A,3_prime_UTR_variant,,ENST00000485596,;PDE8A,3_prime_UTR_variant,,ENST00000478717,;PDE8A,3_prime_UTR_variant,,ENST00000559742,;PDE8A,non_coding_transcript_exon_variant,,ENST00000560789,;PDE8A,non_coding_transcript_exon_variant,,ENST00000558543,;PDE8A,downstream_gene_variant,,ENST00000557954,;PDE8A,upstream_gene_variant,,ENST00000561374,;PDE8A,upstream_gene_variant,,ENST00000560333,;PDE8A,downstream_gene_variant,,ENST00000559086,;	C	ENST00000310298	Transcript	missense_variant	1558/3984	1306/2490	436/829	D/H	Gat/Cat		1		1	PDE8A	HGNC	HGNC:8793	protein_coding	YES	CCDS10336.1	ENSP00000311453	O60658		UPI0000127C00		deleterious(0.02)		15/23		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF85																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	85113993	85113993	G	C	1	0	0	0	0	1	0	0	0	11741	942	33	4		4	PDE8A	15	85113993	Missense_Mutation	SNP	G	C3N-02149_TP	1850775	85113993	16877196	426	30358											
ACAN	0	.	GRCh38	chr15	88855369	88855369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgaagagagaattgagtgGcccagcactcctacggttgg	11	8	14	8	1	0	4	0	2	0	2	1	6	1	4	2	3	2	2	2	3	3	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.2784G>T	p.Trp928Cys	p.W928C	ENST00000439576	12/18	145	112	33	206	206	0	strelka-varscan-mutect	ACAN,missense_variant,p.Trp928Cys,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Trp928Cys,ENST00000617301,;ACAN,missense_variant,p.Trp928Cys,ENST00000559004,;ACAN,missense_variant,p.Trp928Cys,ENST00000561243,;ACAN,missense_variant,p.Trp928Cys,ENST00000352105,NM_001135.3;ACAN,downstream_gene_variant,,ENST00000558207,;ACAN,upstream_gene_variant,,ENST00000560601,;	T	ENST00000439576	Transcript	missense_variant	3158/8840	2784/7593	928/2530	W/C	tgG/tgT		1		1	ACAN	HGNC	HGNC:319	protein_coding	YES	CCDS53970.1	ENSP00000387356		E7EX88	UPI0001B23381	NM_013227.3	deleterious(0.03)		12/18		hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	92	88855369	88855369	G	T	1	0	0	0	0	1	0	0	0	160	1212	42	2		2	ACAN	15	88855369	Missense_Mutation	SNP	G	C3N-02149_TP	3741376	88855369	13135820	427	30359											
MCTP2	0	.	GRCh38	chr15	94298495	94298495	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccacagtcttcctacacctCggtgcccagcagtctgtcca	7	9	8	17	1	2	0	0	0	2	0	5	0	4	0	5	1	3	1	5	1	1	2	rs201364128		C3N-02149_TP	C3N-02149_NB	C	C																c.230C>G	p.Ser77Trp	p.S77W	ENST00000357742	1/22	159	143	16	231	231	0	strelka-varscan-mutect	MCTP2,missense_variant,p.Ser77Trp,ENST00000357742,NM_018349.3;MCTP2,missense_variant,p.Ser77Trp,ENST00000451018,NM_001159643.1;MCTP2,missense_variant,p.Ser77Trp,ENST00000543482,;MCTP2,non_coding_transcript_exon_variant,,ENST00000561608,;MCTP2,missense_variant,p.Ser77Trp,ENST00000456504,;MCTP2,non_coding_transcript_exon_variant,,ENST00000556363,;	G	ENST00000357742	Transcript	missense_variant	230/7555	230/2637	77/878	S/W	tCg/tGg	rs201364128,COSM460615	1		1	MCTP2	HGNC	HGNC:25636	protein_coding	YES	CCDS32338.1	ENSP00000350377	Q6DN12		UPI0000D613A2	NM_018349.3	deleterious(0.01)		1/22		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201364128	.												G	3	3	92	94298495	94298495	C	G	1	0	0	0	0	1	0	0	0	9337	893	31	4		4	MCTP2	15	94298495	Missense_Mutation	SNP	C	C3N-02149_TP	5443126	94298495	7692694	428	30360											
MSLNL	0	.	GRCh38	chr16	774860	774860	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggtcttcccaccggccAgcagtgagttaagggcaatg	9	7	14	11	2	1	1	0	1	1	0	2	2	2	1	3	3	1	3	3	3	2	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.809T>G	p.Leu270Arg	p.L270R	ENST00000543963	6/15	92	81	11	86	85	1	strelka-varscan-mutect	MSLNL,missense_variant,p.Leu270Arg,ENST00000543963,;MSLNL,missense_variant,p.Leu220Arg,ENST00000442466,;MIR662,downstream_gene_variant,,ENST00000384847,;MSLNL,non_coding_transcript_exon_variant,,ENST00000537221,;	C	ENST00000543963	Transcript	missense_variant	809/2259	809/2259	270/752	L/R	cTg/cGg		1		-1	MSLNL	HGNC	HGNC:14170	protein_coding	YES		ENSP00000441381		H0YG18	UPI000204A8F3		deleterious(0)		6/15		Pfam_domain:PF06060,hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF15																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	92	774860	774860	A	C	1	0	0	0	0	1	0	0	0	9864	188	7	5		5	MSLNL	16	774860	Missense_Mutation	SNP	A	C3N-02149_TP		774860	89563485	429	30361											
SSTR5	0	.	GRCh38	chr16	1079624	1079624	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgcgcatggtgttggtGgtggtgctggtgtttgcggg	2	13	21	5	3	0	1	0	1	0	0	0	1	0	1	0	6	2	4	0	6	0	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.756G>T	p.=	p.V252V	ENST00000293897	1/1	132	114	18	186	186	0	strelka-varscan-mutect	SSTR5,synonymous_variant,p.=,ENST00000293897,NM_001172560.1,NM_001053.3;SSTR5-AS1,upstream_gene_variant,,ENST00000569832,;SSTR5-AS1,upstream_gene_variant,,ENST00000566499,;SSTR5-AS1,upstream_gene_variant,,ENST00000624643,;	T	ENST00000293897	Transcript	synonymous_variant	844/1362	756/1095	252/364	V	gtG/gtT		1		1	SSTR5	HGNC	HGNC:11334	protein_coding	YES	CCDS10429.1	ENSP00000293897	P35346		UPI00000015DC	NM_001172560.1,NM_001053.3			1/1		Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF20,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	LOW		SNV				1										PASS		.	.												T	2	4	92	1079624	1079624	G	T	1	0	0	0	0	0	0	0	1	15578	1335	47	2		2	SSTR5	16	1079624	Silent	SNP	G	C3N-02149_TP	304764	1079624	89258721	430	30362											
ANKS4B	0	.	GRCh38	chr16	21250500	21250500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaggagcatcagaggctGatgagggtgcagctgatgaa	13	6	16	6	0	1	5	1	4	0	1	1	7	1	6	0	3	3	4	0	3	2	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.934G>T	p.Asp312Tyr	p.D312Y	ENST00000311620	2/2	336	273	63	481	481	0	strelka-varscan-mutect	ANKS4B,missense_variant,p.Asp312Tyr,ENST00000311620,NM_145865.2;CRYM,intron_variant,,ENST00000570401,;CRYM,intron_variant,,ENST00000574448,;	T	ENST00000311620	Transcript	missense_variant	1007/4352	934/1254	312/417	D/Y	Gat/Tat		1		1	ANKS4B	HGNC	HGNC:26795	protein_coding	YES	CCDS42130.1	ENSP00000308772	Q8N8V4		UPI000013F1C0	NM_145865.2	deleterious(0.01)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	21250500	21250500	G	T	1	0	0	0	0	1	0	0	0	797	1290	45	2		2	ANKS4B	16	21250500	Missense_Mutation	SNP	G	C3N-02149_TP	20170876	21250500	69087845	431	30363											
RBBP6	0	.	GRCh38	chr16	24568957	24568957	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctcatggatatcatcgatCtaggtcaaggtcaccccctt	10	12	7	12	1	5	0	4	0	2	0	7	2	5	1	2	3	0	0	2	3	3	3	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2267C>G	p.Ser756Cys	p.S756C	ENST00000319715	17/18	208	155	53	301	300	1	strelka-varscan-mutect	RBBP6,missense_variant,p.Ser756Cys,ENST00000319715,NM_006910.4;RBBP6,missense_variant,p.Ser722Cys,ENST00000348022,NM_018703.3;RBBP6,missense_variant,p.Ser623Cys,ENST00000564314,;RBBP6,intron_variant,,ENST00000381039,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;	G	ENST00000319715	Transcript	missense_variant	2699/6229	2267/5379	756/1792	S/C	tCt/tGt		1		1	RBBP6	HGNC	HGNC:9889	protein_coding	YES	CCDS10621.1	ENSP00000317872	Q7Z6E9		UPI00001A96B8	NM_006910.4	deleterious_low_confidence(0)		17/18		Low_complexity_(Seg):seg,hmmpanther:PTHR15439,hmmpanther:PTHR15439:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	24568957	24568957	C	G	1	0	0	0	0	1	0	0	0	13264	913	32	4		4	RBBP6	16	24568957	Missense_Mutation	SNP	C	C3N-02149_TP	3318457	24568957	65769388	432	30364											
APOBR	0	.	GRCh38	chr16	28496428	28496428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggagagctttgagggccagGtagacctgcgtggtaaggag	9	7	19	6	1	0	3	0	1	0	2	0	5	0	4	2	5	2	3	2	5	2	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1387G>A	p.Val463Ile	p.V463I	ENST00000564831	2/4	50	45	5	97	97	0	strelka-varscan-mutect	APOBR,missense_variant,p.Val463Ile,ENST00000564831,NM_018690.3;APOBR,missense_variant,p.Val454Ile,ENST00000431282,;CLN3,upstream_gene_variant,,ENST00000569430,;CLN3,upstream_gene_variant,,ENST00000636147,NM_001042432.1;CLN3,upstream_gene_variant,,ENST00000359984,NM_000086.2;CLN3,upstream_gene_variant,,ENST00000360019,NM_001286104.1;CLN3,upstream_gene_variant,,ENST00000357857,NM_001286110.1;CLN3,upstream_gene_variant,,ENST00000333496,;CLN3,upstream_gene_variant,,ENST00000631023,;CLN3,upstream_gene_variant,,ENST00000357806,;CLN3,upstream_gene_variant,,ENST00000567963,NM_001286109.1;CLN3,upstream_gene_variant,,ENST00000395653,;CLN3,upstream_gene_variant,,ENST00000565316,;CLN3,upstream_gene_variant,,ENST00000637100,;CLN3,upstream_gene_variant,,ENST00000636228,;CLN3,upstream_gene_variant,,ENST00000355477,;CLN3,upstream_gene_variant,,ENST00000635973,;IL27,downstream_gene_variant,,ENST00000356897,NM_145659.3;CLN3,upstream_gene_variant,,ENST00000568443,;CLN3,upstream_gene_variant,,ENST00000568497,;CLN3,upstream_gene_variant,,ENST00000565778,;CLN3,upstream_gene_variant,,ENST00000565688,;CLN3,upstream_gene_variant,,ENST00000568558,;CLN3,upstream_gene_variant,,ENST00000567804,;CLN3,upstream_gene_variant,,ENST00000636355,;CLN3,upstream_gene_variant,,ENST00000567160,;CLN3,upstream_gene_variant,,ENST00000565236,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000637110,;CLN3,upstream_gene_variant,,ENST00000566472,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000637686,;CLN3,upstream_gene_variant,,ENST00000565047,;CLN3,upstream_gene_variant,,ENST00000563874,;CLN3,upstream_gene_variant,,ENST00000636977,;RP11-435I10.4,upstream_gene_variant,,ENST00000635887,;RP11-435I10.4,upstream_gene_variant,,ENST00000636503,;RP11-435I10.4,upstream_gene_variant,,ENST00000637376,;RP11-435I10.4,upstream_gene_variant,,ENST00000636866,;RP11-435I10.4,upstream_gene_variant,,ENST00000636078,;CLN3,upstream_gene_variant,,ENST00000636853,;RP11-435I10.4,upstream_gene_variant,,ENST00000636017,;RP11-435I10.4,upstream_gene_variant,,ENST00000636766,;CLN3,upstream_gene_variant,,ENST00000636839,;CLN3,upstream_gene_variant,,ENST00000568076,;CLN3,upstream_gene_variant,,ENST00000561689,;RP11-435I10.4,upstream_gene_variant,,ENST00000637299,;CLN3,upstream_gene_variant,,ENST00000637107,;CLN3,upstream_gene_variant,,ENST00000635958,;CLN3,upstream_gene_variant,,ENST00000637184,;RP11-435I10.4,upstream_gene_variant,,ENST00000568224,;CLN3,upstream_gene_variant,,ENST00000568452,;CLN3,upstream_gene_variant,,ENST00000637871,;CLN3,upstream_gene_variant,,ENST00000637578,;CLN3,upstream_gene_variant,,ENST00000636172,;CLN3,upstream_gene_variant,,ENST00000566083,;CLN3,upstream_gene_variant,,ENST00000635861,;CLN3,upstream_gene_variant,,ENST00000566824,;CLN3,upstream_gene_variant,,ENST00000637699,;CLN3,upstream_gene_variant,,ENST00000565140,;CLN3,upstream_gene_variant,,ENST00000628023,;CLN3,upstream_gene_variant,,ENST00000568422,;CLN3,upstream_gene_variant,,ENST00000564574,;CLN3,upstream_gene_variant,,ENST00000569030,;CLN3,upstream_gene_variant,,ENST00000568472,;CLN3,upstream_gene_variant,,ENST00000566057,;CLN3,upstream_gene_variant,,ENST00000567495,;CLN3,upstream_gene_variant,,ENST00000637985,;CLN3,upstream_gene_variant,,ENST00000561505,;	A	ENST00000564831	Transcript	missense_variant	1420/3792	1387/3294	463/1097	V/I	Gta/Ata		1		1	APOBR	HGNC	HGNC:24087	protein_coding	YES	CCDS58442.1	ENSP00000457539	Q0VD83		UPI000013EFFC	NM_018690.3	tolerated(0.22)		2/4		hmmpanther:PTHR15964:SF0,hmmpanther:PTHR15964																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	28496428	28496428	G	A	1	0	0	0	0	1	0	0	0	918	1261	44	3		3	APOBR	16	28496428	Missense_Mutation	SNP	G	C3N-02149_TP	3927471	28496428	61841917	433	30365											
C16orf78	0	.	GRCh38	chr16	49378518	49378518	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgcctcctaccgaagcctcTatggagtggagcaaaagggg	10	6	13	12	2	1	0	0	0	1	0	2	3	2	2	5	4	3	1	5	4	5	2	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.319T>C	p.Tyr107His	p.Y107H	ENST00000299191	3/5	261	211	50	356	356	0	strelka-mutect	C16orf78,missense_variant,p.Tyr107His,ENST00000299191,NM_144602.3;	C	ENST00000299191	Transcript	missense_variant	436/1068	319/798	107/265	Y/H	Tat/Cat		1		1	C16orf78	HGNC	HGNC:28479	protein_coding	YES	CCDS10738.1	ENSP00000299191	Q8WTQ4		UPI0000071013	NM_144602.3	tolerated(0.12)		3/5		Pfam_domain:PF15472,hmmpanther:PTHR35679																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	49378518	49378518	T	C	1	0	0	0	0	1	0	0	0	1866	1522	53	5		5	C16orf78	16	49378518	Missense_Mutation	SNP	T	C3N-02149_TP	20882090	49378518	40959827	434	30366											
ZNF423	0	.	GRCh38	chr16	49637665	49637665	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagacgcggatgtgctccTgcaggctattgatgtcggcg	6	9	17	9	4	0	2	0	1	0	1	2	4	1	3	1	4	2	3	1	4	1	2	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1487A>T	p.Gln496Leu	p.Q496L	ENST00000561648	5/9	231	183	48	321	320	1	strelka-varscan-mutect	ZNF423,missense_variant,p.Gln496Leu,ENST00000561648,;ZNF423,missense_variant,p.Gln436Leu,ENST00000563137,;ZNF423,missense_variant,p.Gln496Leu,ENST00000262383,NM_015069.3;ZNF423,missense_variant,p.Gln436Leu,ENST00000562871,;ZNF423,missense_variant,p.Gln379Leu,ENST00000535559,;ZNF423,missense_variant,p.Gln436Leu,ENST00000562520,NM_001271620.1;ZNF423,missense_variant,p.Gln379Leu,ENST00000567169,;	A	ENST00000561648	Transcript	missense_variant	1788/7907	1487/3855	496/1284	Q/L	cAg/cTg		1		-1	ZNF423	HGNC	HGNC:16762	protein_coding	YES	CCDS32445.1	ENSP00000455426	Q2M1K9		UPI0000353ABC		deleterious(0.02)		5/9		PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF210,PROSITE_patterns:PS00028,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	92	49637665	49637665	T	A	1	0	0	0	0	1	0	0	0	18470	1580	55	4		4	ZNF423	16	49637665	Missense_Mutation	SNP	T	C3N-02149_TP	259147	49637665	40700680	435	30367											
NOD2	0	.	GRCh38	chr16	50711943	50711943	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatcacagcagccttcCtggcagggctgttgtcccgg	6	10	12	13	1	2	1	2	0	0	1	4	1	4	1	3	3	2	4	3	3	0	3	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2032C>A	p.Leu678Met	p.L678M	ENST00000300589	4/12	116	90	26	134	134	0	strelka-varscan-mutect	NOD2,missense_variant,p.Leu678Met,ENST00000300589,NM_022162.2,NM_001293557.1;NOD2,upstream_gene_variant,,ENST00000534057,;RP11-327F22.6,upstream_gene_variant,,ENST00000602304,;NOD2,downstream_gene_variant,,ENST00000526417,;NOD2,downstream_gene_variant,,ENST00000532206,;NOD2,downstream_gene_variant,,ENST00000527070,;NOD2,upstream_gene_variant,,ENST00000534067,;NOD2,upstream_gene_variant,,ENST00000529633,;NOD2,upstream_gene_variant,,ENST00000524712,;NOD2,upstream_gene_variant,,ENST00000527052,;	A	ENST00000300589	Transcript	missense_variant	2137/4486	2032/3123	678/1040	L/M	Ctg/Atg		1		1	NOD2	HGNC	HGNC:5331	protein_coding	YES	CCDS10746.1	ENSP00000300589	Q9HC29		UPI000005027A	NM_022162.2,NM_001293557.1	deleterious(0.03)		4/12		hmmpanther:PTHR24106:SF64,hmmpanther:PTHR24106																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	92	50711943	50711943	C	A	1	0	0	0	0	1	0	0	0	10560	680	24	2		2	NOD2	16	50711943	Missense_Mutation	SNP	C	C3N-02149_TP	1074278	50711943	39626402	436	30368											
NUP93	0	.	GRCh38	chr16	56842688	56842688	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccctcccaagtagctggGactacaggtacgcaccacca	11	6	8	16	1	1	0	1	0	0	0	2	1	2	1	4	2	3	4	4	2	4	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.2460G>T	p.=	p.G820G	ENST00000569842	22/23	59	43	16	69	69	0	strelka-varscan-mutect	NUP93,synonymous_variant,p.=,ENST00000569842,;NUP93,intron_variant,,ENST00000542526,NM_001242796.1;NUP93,intron_variant,,ENST00000564887,NM_001242795.1;NUP93,intron_variant,,ENST00000308159,NM_014669.4;NUP93,intron_variant,,ENST00000569322,;NUP93,downstream_gene_variant,,ENST00000563486,;NUP93,downstream_gene_variant,,ENST00000563405,;NUP93,intron_variant,,ENST00000564278,;NUP93,intron_variant,,ENST00000563465,;	T	ENST00000569842	Transcript	synonymous_variant	2556/2834	2460/2643	820/880	G	ggG/ggT		1		1	NUP93	HGNC	HGNC:28958	protein_coding			ENSP00000458101		H3BVG0	UPI00024670A6				22/23																			LOW		SNV	5			1										PASS		.	.												T	2	4	92	56842688	56842688	G	T	1	0	0	0	0	0	0	0	1	10838	1161	41	2		2	NUP93	16	56842688	Silent	SNP	G	C3N-02149_TP	6130745	56842688	33495657	437	30369											
NLRC5	0	.	GRCh38	chr16	57020833	57020833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctccccaacacggacCtggattccaggaacgagacc	10	7	8	16	2	1	1	0	0	1	1	4	5	4	4	6	3	2	0	6	3	2	2	rs776847858		C3N-02149_TP	C3N-02149_NB	C	C																c.121C>T	p.=	p.L41L	ENST00000262510	3/49	432	396	36	500	500	0	strelka-varscan-mutect	NLRC5,synonymous_variant,p.=,ENST00000262510,;NLRC5,synonymous_variant,p.=,ENST00000436936,NM_032206.4;NLRC5,synonymous_variant,p.=,ENST00000539144,;NLRC5,synonymous_variant,p.=,ENST00000544641,;NLRC5,upstream_gene_variant,,ENST00000538805,;NLRC5,downstream_gene_variant,,ENST00000538059,;NLRC5,synonymous_variant,p.=,ENST00000539881,;NLRC5,non_coding_transcript_exon_variant,,ENST00000538273,;NLRC5,upstream_gene_variant,,ENST00000545081,;	T	ENST00000262510	Transcript	synonymous_variant	346/6822	121/5601	41/1866	L	Ctg/Ttg	rs776847858	1		1	NLRC5	HGNC	HGNC:29933	protein_coding	YES	CCDS10773.1	ENSP00000262510	Q86WI3		UPI00001AEE94				3/49																			LOW	1	SNV	5			1										PASS		rs776847858	.												T	2	4	92	57020833	57020833	C	T	1	0	0	0	0	0	0	0	1	10507	680	24	3		3	NLRC5	16	57020833	Silent	SNP	C	C3N-02149_TP	178145	57020833	33317512	438	30370											
SLC7A6OS	0	.	GRCh38	chr16	68304124	68304124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcatacacatagtcatCgtgtttttgttcttcctggc	8	17	7	9	1	3	0	2	0	1	0	5	0	4	0	1	1	1	2	1	1	3	6	rs139917756		C3N-02149_TP	C3N-02149_NB	C	C																c.580G>T	p.Asp194Tyr	p.D194Y	ENST00000263997	3/5	357	283	74	506	506	0	strelka-varscan-mutect	SLC7A6OS,missense_variant,p.Asp194Tyr,ENST00000263997,NM_032178.2;SLC7A6OS,missense_variant,p.Asp160Tyr,ENST00000568538,;SLC7A6OS,missense_variant,p.Asp36Tyr,ENST00000561590,;SLC7A6,downstream_gene_variant,,ENST00000566454,NM_001076785.2;SLC7A6,downstream_gene_variant,,ENST00000219343,NM_003983.5;SLC7A6,downstream_gene_variant,,ENST00000618043,;SLC7A6OS,missense_variant,p.Asp4Tyr,ENST00000568315,;SLC7A6OS,non_coding_transcript_exon_variant,,ENST00000561933,;SLC7A6,downstream_gene_variant,,ENST00000379152,;	A	ENST00000263997	Transcript	missense_variant	599/4189	580/930	194/309	D/Y	Gat/Tat	rs139917756	1		-1	SLC7A6OS	HGNC	HGNC:25807	protein_coding	YES	CCDS10865.1	ENSP00000263997	Q96CW6		UPI000013D49E	NM_032178.2	tolerated(0.06)		3/5		Pfam_domain:PF08574,hmmpanther:PTHR31196,hmmpanther:PTHR31196:SF2																	MODERATE	1	SNV	1			1										PASS		rs139917756	.												A	3	1	92	68304124	68304124	C	A	1	0	0	0	0	1	0	0	0	14985	884	31	1		1	SLC7A6OS	16	68304124	Missense_Mutation	SNP	C	C3N-02149_TP	11283291	68304124	22034221	439	30371											
CNTNAP4	0	.	GRCh38	chr16	76535636	76535636	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatttggaagaaagagcccaGgtgactccagaagtgcagcc	13	6	13	9	0	0	4	0	1	0	3	1	6	1	5	3	2	3	1	3	2	3	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.2847G>A	p.=	p.Q949Q	ENST00000611870	18/24	335	264	71	415	414	1	strelka-varscan-mutect	CNTNAP4,synonymous_variant,p.=,ENST00000307431,;CNTNAP4,synonymous_variant,p.=,ENST00000611870,NM_033401.3;CNTNAP4,synonymous_variant,p.=,ENST00000377504,;CNTNAP4,synonymous_variant,p.=,ENST00000476707,;CNTNAP4,synonymous_variant,p.=,ENST00000622250,;CNTNAP4,synonymous_variant,p.=,ENST00000478060,NM_138994.3;	A	ENST00000611870	Transcript	synonymous_variant	3232/4867	2847/3927	949/1308	Q	caG/caA		1		1	CNTNAP4	HGNC	HGNC:18747	protein_coding	YES	CCDS73915.1	ENSP00000479811	Q9C0A0		UPI000013DCFF	NM_033401.3			18/24		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF659																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	76535636	76535636	G	A	1	0	0	0	0	0	0	0	1	3431	991	35	3		3	CNTNAP4	16	76535636	Silent	SNP	G	C3N-02149_TP	8231512	76535636	13802709	440	30372											
FAM92B	0	.	GRCh38	chr16	85110352	85110352	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accagctggtccgccttgtcCcgcagccgggccgtcttgcg	3	8	13	17	5	1	0	0	0	1	0	3	0	3	0	6	2	3	2	6	2	0	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.129G>T	p.=	p.R43R	ENST00000539556	2/9	141	106	35	183	181	2	strelka-varscan-mutect	FAM92B,synonymous_variant,p.=,ENST00000539556,NM_198491.2;FAM92B,synonymous_variant,p.=,ENST00000629253,;FAM92B,upstream_gene_variant,,ENST00000618669,;	A	ENST00000539556	Transcript	synonymous_variant	285/1898	129/915	43/304	R	cgG/cgT		1		-1	FAM92B	HGNC	HGNC:24781	protein_coding	YES	CCDS32500.1	ENSP00000443411	Q6ZTR7		UPI00001C0C61	NM_198491.2			2/9		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21223,hmmpanther:PTHR21223:SF3,Pfam_domain:PF06730,Gene3D:1.20.1270.60,Superfamily_domains:SSF103657																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	92	85110352	85110352	C	A	1	0	0	0	0	0	0	0	1	5511	610	22	2		2	FAM92B	16	85110352	Silent	SNP	C	C3N-02149_TP	8574716	85110352	5227993	441	30373											
FOXL1	0	.	GRCh38	chr16	86578917	86578917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccatggcgatccaggacgCgcccgagcagagggtcacgc	8	3	15	15	6	1	1	1	0	0	1	2	4	2	2	3	3	1	1	3	3	0	0			C3N-02149_TP	C3N-02149_NB	C	C																c.194C>A	p.Ala65Glu	p.A65E	ENST00000320241	1/1	495	401	94	618	618	0	strelka-varscan-mutect	FOXL1,missense_variant,p.Ala65Glu,ENST00000320241,NM_005250.2;FOXL1,missense_variant,p.Ala65Glu,ENST00000593625,;	A	ENST00000320241	Transcript	missense_variant	412/3655	194/1038	65/345	A/E	gCg/gAg	COSM5237864	1		1	FOXL1	HGNC	HGNC:3817	protein_coding	YES	CCDS10959.1	ENSP00000326272	Q12952		UPI000012ADE2	NM_005250.2	deleterious(0)		1/1		PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF204,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	92	86578917	86578917	C	A	1	0	0	0	0	1	0	0	0	5879	768	27	1		1	FOXL1	16	86578917	Missense_Mutation	SNP	C	C3N-02149_TP	1468565	86578917	3759428	442	30374											
OR3A2	0	.	GRCh38	chr17	3278928	3278928	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggctccatgagtttctgtAaggacatgtcccagcagggg	8	10	13	10	0	1	1	0	1	1	0	3	2	3	2	2	4	1	4	2	4	1	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.8T>A	p.Leu3Ter	p.L3*	ENST00000408891	1/1	26	17	9	44	44	0	strelka-varscan-mutect	OR3A2,stop_gained,p.Leu3Ter,ENST00000408891,NM_002551.3;RP11-64J4.2,splice_region_variant,,ENST00000573491,;RP11-64J4.2,downstream_gene_variant,,ENST00000576166,;	T	ENST00000408891	Transcript	stop_gained	47/1076	8/966	3/321	L/*	tTa/tAa		1		-1	OR3A2	HGNC	HGNC:8283	protein_coding	YES	CCDS42233.1	ENSP00000386180	P47893	A0A126GVQ3	UPI0000050B3C	NM_002551.3			1/1																			HIGH		SNV				1										PASS		.	.												T	4	4	92	3278928	3278928	A	T	1	0	0	0	0	0	1	0	0	11115	372	13	4		4	OR3A2	17	3278928	Nonsense_Mutation	SNP	A	C3N-02149_TP		3278928	79978513	443	30375											
TP53	0	.	GRCh38	chr17	7673728	7673728	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctccctgggggcagctCgtggtgaggctcccctttct	3	11	14	13	1	1	1	0	1	1	0	4	1	3	1	3	4	2	4	3	4	0	1	rs201744589		C3N-02149_TP	C3N-02149_NB	C	C																c.892G>T	p.Glu298Ter	p.E298*	ENST00000269305	8/11	646	517	129	793	791	2	strelka-varscan-mutect	TP53,stop_gained,p.Glu298Ter,ENST00000617185,NM_001126114.2;TP53,stop_gained,p.Glu298Ter,ENST00000420246,;TP53,stop_gained,p.Glu259Ter,ENST00000622645,NM_001276696.1;TP53,stop_gained,p.Glu259Ter,ENST00000610292,NM_001126118.1;TP53,stop_gained,p.Glu298Ter,ENST00000455263,NM_001126113.2;TP53,stop_gained,p.Glu259Ter,ENST00000610538,NM_001276695.1;TP53,stop_gained,p.Glu298Ter,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,stop_gained,p.Glu259Ter,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,stop_gained,p.Glu298Ter,ENST00000445888,;TP53,stop_gained,p.Glu259Ter,ENST00000619485,;TP53,stop_gained,p.Glu166Ter,ENST00000510385,NM_001126116.1;TP53,stop_gained,p.Glu139Ter,ENST00000618944,NM_001276698.1;TP53,stop_gained,p.Glu166Ter,ENST00000504290,NM_001126117.1;TP53,stop_gained,p.Glu139Ter,ENST00000610623,NM_001276699.1;TP53,stop_gained,p.Glu166Ter,ENST00000504937,NM_001126115.1;TP53,stop_gained,p.Glu139Ter,ENST00000619186,NM_001276697.1;TP53,stop_gained,p.Glu298Ter,ENST00000359597,;TP53,stop_gained,p.Glu287Ter,ENST00000615910,;TP53,stop_gained,p.Glu166Ter,ENST00000509690,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,stop_gained,p.Glu259Ter,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	stop_gained	1082/2579	892/1182	298/393	E/*	Gag/Tag	rs201744589,CM031387,TP53_g.13872G>A,TP53_g.13872G>T,TP53_g.13872G>C,TP53_g.13872del,COSM10710,COSM121080,COSM1646820,COSM3723940,COSM44031,COSM45938	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5			8/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6										uncertain_significance,likely_benign,pathogenic	0,0,0,0,0,0,1,1,1,1,1,1						HIGH	1	SNV	1		1,1,0,0,0,0,1,1,1,1,1,1	1										PASS		rs201744589	.												A	4	1	92	7673728	7673728	C	A	1	0	0	0	0	0	1	0	0	16859	893	31	1		1	TP53	17	7673728	Nonsense_Mutation	SNP	C	C3N-02149_TP	4394800	7673728	75583713	444	30376											
PIK3R5	0	.	GRCh38	chr17	8888253	8888253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgtagcgtggaagccttggGatcctcatctccactcagga	9	9	11	12	2	3	0	2	0	1	0	5	3	4	3	3	3	2	1	3	3	2	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1534C>A	p.Pro512Thr	p.P512T	ENST00000447110	10/19	364	293	71	500	500	0	strelka-varscan-mutect	PIK3R5,missense_variant,p.Pro512Thr,ENST00000447110,NM_001142633.2;PIK3R5,missense_variant,p.Pro126Thr,ENST00000616147,NM_001251852.1;PIK3R5,missense_variant,p.Pro126Thr,ENST00000611902,NM_001251853.1,NM_001251851.1;PIK3R5,missense_variant,p.Pro126Thr,ENST00000623421,NM_001251855.1;PIK3R5,missense_variant,p.Pro512Thr,ENST00000581552,NM_014308.3;PIK3R5,missense_variant,p.Pro512Thr,ENST00000584803,;PIK3R5,downstream_gene_variant,,ENST00000578457,;PIK3R5,downstream_gene_variant,,ENST00000580959,;PIK3R5,downstream_gene_variant,,ENST00000584456,;PIK3R5,upstream_gene_variant,,ENST00000578743,;PIK3R5,downstream_gene_variant,,ENST00000577981,;PIK3R5,downstream_gene_variant,,ENST00000583812,;PIK3R5,3_prime_UTR_variant,,ENST00000269300,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000578515,;PIK3R5,non_coding_transcript_exon_variant,,ENST00000583039,;PIK3R5,upstream_gene_variant,,ENST00000577214,;	T	ENST00000447110	Transcript	missense_variant	1664/4495	1534/2643	512/880	P/T	Ccc/Acc		1		-1	PIK3R5	HGNC	HGNC:30035	protein_coding	YES	CCDS11147.1	ENSP00000392812	Q8WYR1	L7RT34	UPI0000071DB4	NM_001142633.2	tolerated(0.53)		10/19		hmmpanther:PTHR15593,hmmpanther:PTHR15593:SF2,Pfam_domain:PF10486																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	92	8888253	8888253	G	T	1	0	0	0	0	1	0	0	0	12017	1174	41	2		2	PIK3R5	17	8888253	Missense_Mutation	SNP	G	C3N-02149_TP	1214525	8888253	74369188	445	30377											
DNAH9	0	.	GRCh38	chr17	11902783	11902783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagggatctgctaagagctGgaaaaagtttgtggagtccg	12	9	15	5	1	1	2	0	0	1	2	2	5	2	5	1	3	2	3	1	3	3	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.11471G>T	p.Trp3824Leu	p.W3824L	ENST00000262442	60/69	190	158	32	273	270	3	strelka-varscan-mutect	DNAH9,missense_variant,p.Trp3824Leu,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Trp3824Leu,ENST00000454412,;DNAH9,missense_variant,p.Trp136Leu,ENST00000608377,NM_004662.2;DNAH9,non_coding_transcript_exon_variant,,ENST00000396001,;DNAH9,non_coding_transcript_exon_variant,,ENST00000581682,;	T	ENST00000262442	Transcript	missense_variant	11539/13750	11471/13461	3824/4486	W/L	tGg/tTg		1		1	DNAH9	HGNC	HGNC:2953	protein_coding	YES	CCDS11160.1	ENSP00000262442	Q9NYC9		UPI0000141BA2	NM_001372.3	deleterious(0.01)		60/69		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF257																	MODERATE	1	SNV	1			1										PASS		rs1415835300	.												T	3	4	92	11902783	11902783	G	T	1	0	0	0	0	1	0	0	0	4423	1357	47	2		2	DNAH9	17	11902783	Missense_Mutation	SNP	G	C3N-02149_TP	3014530	11902783	71354658	446	30378											
SPECC1	0	.	GRCh38	chr17	20110501	20110508	+	Frame_Shift_Del	DEL	GAAGACCG	GAAGACCG	-																															tcgggggtggttcgcctgaaGaagaccgccactgccggagc																								novel		C3N-02149_TP	C3N-02149_NB	GAAGACCG	GAAGACCG																c.222_229delGAAGACCG	p.Lys74AsnfsTer25	p.K74Nfs*25	ENST00000261503	3/15	126	111	15	186	186	0	sindel-varindel-pindel	SPECC1,frameshift_variant,p.Lys74AsnfsTer25,ENST00000395529,NM_152904.4;SPECC1,frameshift_variant,p.Lys74AsnfsTer25,ENST00000261503,NM_001033553.2;SPECC1,frameshift_variant,p.Lys74AsnfsTer25,ENST00000395527,NM_001243439.1;SPECC1,frameshift_variant,p.Lys74AsnfsTer25,ENST00000581973,;SPECC1,frameshift_variant,p.Lys74AsnfsTer25,ENST00000583463,;SPECC1,frameshift_variant,p.Lys74AsnfsTer?,ENST00000583528,;SPECC1,frameshift_variant,p.Lys74AsnfsTer25,ENST00000583482,;SPECC1,downstream_gene_variant,,ENST00000580934,;SPECC1,non_coding_transcript_exon_variant,,ENST00000413167,;SPECC1,intron_variant,,ENST00000472876,;KCTD9P1,upstream_gene_variant,,ENST00000430462,;	-	ENST00000261503	Transcript	frameshift_variant	273-280/3948	222-229/3207	74-77/1068	KKTA/NX	aaGAAGACCGcc/aacc		1		1	SPECC1	HGNC	HGNC:30615	protein_coding	YES	CCDS32590.1	ENSP00000261503	Q5M775	A0A024QYY9	UPI000020187D	NM_001033553.2			3/15		hmmpanther:PTHR23167,hmmpanther:PTHR23167:SF3																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	92	20110501	20110501	GAAGACCG	-	1	0	1	0	1	0	0	0	0	15383	933	33	0		0	SPECC1	17	20110501	Frame_Shift_Del	DEL	GAAGACCG	C3N-02149_TP	8207718	20110501	63146940	447	30379											
CCL1	0	.	GRCh38	chr17	34360630	34360630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccaactgtgtccaaggCgcaggcctctttgcctctct	6	11	8	16	1	2	0	0	0	2	0	5	0	4	0	5	2	2	1	5	2	2	1	rs780220490		C3N-02149_TP	C3N-02149_NB	C	C																c.220G>A	p.Ala74Thr	p.A74T	ENST00000225842	3/3	333	316	17	390	390	0	strelka-varscan-mutect	CCL1,missense_variant,p.Ala74Thr,ENST00000225842,NM_002981.2;CCL13,downstream_gene_variant,,ENST00000225844,NM_005408.2;CCL13,downstream_gene_variant,,ENST00000577681,;	T	ENST00000225842	Transcript	missense_variant	290/592	220/291	74/96	A/T	Gcc/Acc	rs780220490,COSM3691481	1		-1	CCL1	HGNC	HGNC:10609	protein_coding	YES	CCDS11282.1	ENSP00000225842	P22362		UPI00001362C4	NM_002981.2	deleterious(0.02)		3/3		hmmpanther:PTHR12015:SF5,hmmpanther:PTHR12015,PROSITE_patterns:PS00472,Gene3D:2.40.50.40,Pfam_domain:PF00048,SMART_domains:SM00199,Superfamily_domains:SSF54117											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs780220490	.												T	3	4	92	34360630	34360630	C	T	1	0	0	0	0	1	0	0	0	2580	768	27	1		1	CCL1	17	34360630	Missense_Mutation	SNP	C	C3N-02149_TP	14250129	34360630	48896811	448	30380											
KRTAP4-1	0	.	GRCh38	chr17	41184557	41184557	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggacggcagcagctggAcataccacagctggggtggc	9	5	17	10	1	0	0	0	0	0	0	0	3	0	2	1	6	4	4	1	6	1	1	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.298T>C	p.Ser100Pro	p.S100P	ENST00000398472	1/1	46	40	6	55	55	0	varscan-mutect	KRTAP4-1,missense_variant,p.Ser100Pro,ENST00000398472,;KRTAP4-1,splice_region_variant,,ENST00000620667,NM_033060.2;AC006070.12,downstream_gene_variant,,ENST00000508151,;	G	ENST00000398472	Transcript	missense_variant	786/1241	298/441	100/146	S/P	Tcc/Ccc		1		-1	KRTAP4-1	HGNC	HGNC:18907	protein_coding	YES		ENSP00000381489	Q9BYQ7		UPI0000246F4A		tolerated(0.23)		1/1		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF71																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	92	41184557	41184557	A	G	1	0	0	0	0	1	0	0	0	8441	275	10	5		5	KRTAP4-1	17	41184557	Missense_Mutation	SNP	A	C3N-02149_TP	6823927	41184557	42072884	449	30381											
KRT32	0	.	GRCh38	chr17	41465925	41465925	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatggccagctctgcctCgtacctgcacaaggacaggg	8	6	12	15	2	1	0	0	0	1	0	2	1	1	1	4	3	4	4	4	3	2	1	rs748226139		C3N-02149_TP	C3N-02149_NB	C	C																c.556G>T	p.Glu186Ter	p.E186*	ENST00000225899	3/7	87	78	9	83	83	0	strelka-varscan-mutect	KRT32,stop_gained,p.Glu186Ter,ENST00000225899,NM_002278.3;RNU2-32P,upstream_gene_variant,,ENST00000411193,;	A	ENST00000225899	Transcript	stop_gained	660/1750	556/1347	186/448	E/*	Gag/Tag	rs748226139	1		-1	KRT32	HGNC	HGNC:6449	protein_coding	YES	CCDS11393.1	ENSP00000225899	Q14532		UPI000013C883	NM_002278.3			3/7		Pfam_domain:PF00038,Prints_domain:PR01248,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF155,SMART_domains:SM01391																	HIGH	1	SNV	1			1										PASS		rs748226139	.												A	4	1	92	41465925	41465925	C	A	1	0	0	0	0	0	1	0	0	8350	898	31	1		1	KRT32	17	41465925	Nonsense_Mutation	SNP	C	C3N-02149_TP	281368	41465925	41791516	450	30382											
KRT36	0	.	GRCh38	chr17	41487606	41487606	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaggcctccacatctctGcggttattctccaccagggc	8	9	8	16	1	2	0	0	0	2	0	5	0	3	0	5	3	2	1	5	3	2	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.831C>A	p.=	p.R277R	ENST00000328119	4/7	99	68	31	133	133	0	strelka-varscan-mutect	KRT36,synonymous_variant,p.=,ENST00000393986,;KRT36,synonymous_variant,p.=,ENST00000328119,NM_003771.4;	T	ENST00000328119	Transcript	synonymous_variant	831/1644	831/1404	277/467	R	cgC/cgA		1		-1	KRT36	HGNC	HGNC:6454	protein_coding	YES	CCDS11395.1	ENSP00000329165	O76013		UPI000012DAFA	NM_003771.4			4/7		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF193,SMART_domains:SM01391,Superfamily_domains:SSF46579																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	92	41487606	41487606	G	T	1	0	0	0	0	0	0	0	1	8355	1306	46	2		2	KRT36	17	41487606	Silent	SNP	G	C3N-02149_TP	21681	41487606	41769835	451	30383											
MEIOC	0	.	GRCh38	chr17	44667951	44667951	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggcataatcagtgtttTcaacaacttggttcaaatgg	13	14	8	6	0	3	0	3	0	0	0	3	0	3	0	0	3	2	3	0	3	5	6	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.2040T>C	p.=	p.F680F	ENST00000409122	5/8	281	256	25	355	354	1	strelka-varscan-mutect	MEIOC,synonymous_variant,p.=,ENST00000409122,NM_001145080.2;MEIOC,synonymous_variant,p.=,ENST00000409464,;MEIOC,downstream_gene_variant,,ENST00000432494,;MEIOC,downstream_gene_variant,,ENST00000456912,;MEIOC,upstream_gene_variant,,ENST00000472403,;	C	ENST00000409122	Transcript	synonymous_variant	2182/4604	2040/2859	680/952	F	ttT/ttC		1		1	MEIOC	HGNC	HGNC:26670	protein_coding	YES	CCDS45703.2	ENSP00000386452	A2RUB1		UPI0001881A86	NM_001145080.2			5/8		hmmpanther:PTHR33861,hmmpanther:PTHR33861:SF3																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	92	44667951	44667951	T	C	1	0	0	0	0	0	0	0	1	9410	1780	62	5		5	MEIOC	17	44667951	Silent	SNP	T	C3N-02149_TP	3180345	44667951	38589490	452	30384											
GJC1	0	.	GRCh38	chr17	44805198	44805198	+	Frame_Shift_Del	DEL	T	T	-																															aaggaagtctgctgcacacaTaaaacgggtggacttggaag																								novel		C3N-02149_TP	C3N-02149_NB	T	T																c.620delA	p.Tyr207LeufsTer12	p.Y207Lfs*12	ENST00000426548	3/3	346	324	22	415	415	0	varindel-pindel	GJC1,frameshift_variant,p.Tyr207LeufsTer12,ENST00000426548,NM_001080383.1;GJC1,frameshift_variant,p.Tyr207LeufsTer12,ENST00000590758,;GJC1,frameshift_variant,p.Tyr207LeufsTer12,ENST00000330514,;GJC1,frameshift_variant,p.Tyr71LeufsTer12,ENST00000587113,;GJC1,frameshift_variant,p.Tyr207LeufsTer12,ENST00000592524,NM_005497.3;GJC1,downstream_gene_variant,,ENST00000591424,;GJC1,downstream_gene_variant,,ENST00000587239,;GJC1,upstream_gene_variant,,ENST00000586347,;GJC1,downstream_gene_variant,,ENST00000586267,;	-	ENST00000426548	Transcript	frameshift_variant	890/7640	620/1191	207/396	Y/X	tAt/tt		1		-1	GJC1	HGNC	HGNC:4280	protein_coding	YES	CCDS11487.1	ENSP00000411528	P36383		UPI000013C62A	NM_001080383.1			3/3		hmmpanther:PTHR11984:SF6,hmmpanther:PTHR11984,Pfam_domain:PF00029,Gene3D:2zw3A00,SMART_domains:SM01089																	HIGH	1	deletion	3			1										PASS		.	.												-	7	5	92	44805198	44805198	T	-	1	0	1	0	1	0	0	0	0	6291	1406	49	0		0	GJC1	17	44805198	Frame_Shift_Del	DEL	T	C3N-02149_TP	137247	44805198	38452243	453	30385											
CCDC103	0	.	GRCh38	chr17	44902575	44902575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccggctgaccgggcagcgGtgctggggatcctatgcagc	5	6	18	12	3	0	1	0	1	0	0	1	2	1	2	3	6	4	4	3	6	1	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.487G>T	p.Val163Leu	p.V163L	ENST00000417826	4/4	351	320	31	394	394	0	strelka-varscan-mutect	CCDC103,missense_variant,p.Val163Leu,ENST00000417826,;FAM187A,missense_variant,p.Val163Leu,ENST00000412523,NM_001258399.1,NM_001258396.1,NM_213607.2,NM_001258395.1;CCDC103,missense_variant,p.Val163Leu,ENST00000410006,;CCDC103,missense_variant,p.Val163Leu,ENST00000357776,NM_001258398.1;FAM187A,5_prime_UTR_variant,,ENST00000331733,;EFTUD2,upstream_gene_variant,,ENST00000426333,NM_004247.3;EFTUD2,upstream_gene_variant,,ENST00000591382,NM_001258353.1;EFTUD2,upstream_gene_variant,,ENST00000592576,NM_001258354.1;GFAP,downstream_gene_variant,,ENST00000253408,NM_002055.4;EFTUD2,upstream_gene_variant,,ENST00000402521,NM_001142605.1;CCDC103,downstream_gene_variant,,ENST00000577339,;CCDC103,downstream_gene_variant,,ENST00000410027,NM_001258397.1;GFAP,downstream_gene_variant,,ENST00000588735,;EFTUD2,upstream_gene_variant,,ENST00000592701,;EFTUD2,upstream_gene_variant,,ENST00000593072,;AC015936.3,downstream_gene_variant,,ENST00000441312,;GFAP,downstream_gene_variant,,ENST00000592706,;GFAP,downstream_gene_variant,,ENST00000592065,;GFAP,downstream_gene_variant,,ENST00000589701,;EFTUD2,upstream_gene_variant,,ENST00000589825,;GFAP,downstream_gene_variant,,ENST00000585543,;EFTUD2,upstream_gene_variant,,ENST00000592408,;EFTUD2,upstream_gene_variant,,ENST00000590105,;	T	ENST00000417826	Transcript	missense_variant	582/3397	487/729	163/242	V/L	Gtg/Ttg		1		1	CCDC103	HGNC	HGNC:32700	protein_coding	YES	CCDS11490.1	ENSP00000391692	Q8IW40		UPI0000074564		deleterious(0.01)		4/4		Pfam_domain:PF13877,hmmpanther:PTHR28572,hmmpanther:PTHR28572:SF1																	MODERATE		SNV	1			1										PASS		rs1399679643	.												T	3	4	92	44902575	44902575	G	T	1	0	0	0	0	1	0	0	0	2436	1261	44	2		2	CCDC103	17	44902575	Missense_Mutation	SNP	G	C3N-02149_TP	97377	44902575	38354866	454	30386											
UBE2Z	0	.	GRCh38	chr17	48927060	48927060	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctggagaggctccataatGagaatgcagaaatggactct	13	9	12	7	0	1	3	0	1	1	3	2	6	2	4	1	3	2	3	1	3	3	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.991G>C	p.Glu331Gln	p.E331Q	ENST00000360943	7/7	253	237	16	344	344	0	strelka-varscan-mutect	UBE2Z,missense_variant,p.Glu331Gln,ENST00000360943,NM_023079.4;SNF8,downstream_gene_variant,,ENST00000502492,NM_007241.2;SNF8,downstream_gene_variant,,ENST00000290330,;UBE2Z,downstream_gene_variant,,ENST00000514948,;AC091133.1,upstream_gene_variant,,ENST00000435491,;SNF8,downstream_gene_variant,,ENST00000514089,;UBE2Z,3_prime_UTR_variant,,ENST00000506498,;UBE2Z,non_coding_transcript_exon_variant,,ENST00000513342,;UBE2Z,non_coding_transcript_exon_variant,,ENST00000506271,;SNF8,downstream_gene_variant,,ENST00000504000,;SNF8,downstream_gene_variant,,ENST00000510558,;SNF8,downstream_gene_variant,,ENST00000514929,;SNF8,downstream_gene_variant,,ENST00000507302,;SNF8,downstream_gene_variant,,ENST00000576353,;SNF8,downstream_gene_variant,,ENST00000515572,;SNF8,downstream_gene_variant,,ENST00000509989,;UBE2Z,downstream_gene_variant,,ENST00000504684,;SNF8,downstream_gene_variant,,ENST00000573795,;SNF8,downstream_gene_variant,,ENST00000509995,;	C	ENST00000360943	Transcript	missense_variant	1126/3122	991/1065	331/354	E/Q	Gag/Cag		1		1	UBE2Z	HGNC	HGNC:25847	protein_coding	YES	CCDS11540.2	ENSP00000354201	Q9H832		UPI00005A774B	NM_023079.4	tolerated(0.13)		7/7		Gene3D:3.10.110.10																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	48927060	48927060	G	C	1	0	0	0	0	1	0	0	0	17401	1291	45	4		4	UBE2Z	17	48927060	Missense_Mutation	SNP	G	C3N-02149_TP	4024485	48927060	34330381	455	30387											
DGKE	0	.	GRCh38	chr17	56861841	56861841	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagcttggaaggtattatAgttctgaacatcggatactg	11	12	10	8	1	1	1	0	1	1	0	2	3	1	3	1	3	3	3	1	3	6	6	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1335A>T	p.=	p.I445I	ENST00000284061	10/12	169	137	32	226	225	1	strelka-varscan-mutect	DGKE,synonymous_variant,p.=,ENST00000284061,NM_003647.2;DGKE,synonymous_variant,p.=,ENST00000572944,;DGKE,upstream_gene_variant,,ENST00000570738,;	T	ENST00000284061	Transcript	synonymous_variant	1515/8660	1335/1704	445/567	I	atA/atT		1		1	DGKE	HGNC	HGNC:2852	protein_coding	YES	CCDS11590.1	ENSP00000284061	P52429	A1L4Q0	UPI000012DD1F	NM_003647.2			10/12		hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF45,Pfam_domain:PF00609,SMART_domains:SM00045,Superfamily_domains:SSF111331																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	56861841	56861841	A	T	1	0	0	0	0	0	0	0	1	4274	410	15	4		4	DGKE	17	56861841	Silent	SNP	A	C3N-02149_TP	7934781	56861841	26395600	456	30388											
TANC2	0	.	GRCh38	chr17	63200916	63200916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctatggggctgttactaGtccaacctctacccttgaaa	10	11	8	12	0	1	1	0	1	1	0	2	1	2	1	3	2	4	3	3	2	6	5	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.506G>T	p.Ser169Ile	p.S169I	ENST00000424789	5/25	151	139	12	209	209	0	strelka-varscan-mutect	TANC2,missense_variant,p.Ser169Ile,ENST00000424789,NM_025185.3;TANC2,missense_variant,p.Ser98Ile,ENST00000583356,;TANC2,missense_variant,p.Ser169Ile,ENST00000389520,;AC037445.1,intron_variant,,ENST00000581421,;AC037445.1,upstream_gene_variant,,ENST00000435892,;	T	ENST00000424789	Transcript	missense_variant	510/11721	506/5973	169/1990	S/I	aGt/aTt		1		1	TANC2	HGNC	HGNC:30212	protein_coding	YES	CCDS45754.1	ENSP00000387593	Q9HCD6		UPI00015D57DF	NM_025185.3	deleterious(0)		5/25		hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF21																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	92	63200916	63200916	G	T	1	0	0	0	0	1	0	0	0	15942	1029	36	2		2	TANC2	17	63200916	Missense_Mutation	SNP	G	C3N-02149_TP	6339075	63200916	20056525	457	30389											
AXIN2	0	.	GRCh38	chr17	65534037	65534037	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaaccaactcactggcCtggagcgcgtggacacctgc	9	6	12	14	2	1	1	1	1	0	0	1	3	1	3	3	3	4	0	3	3	2	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2280G>T	p.Gln760His	p.Q760H	ENST00000307078	10/11	481	402	79	636	635	1	strelka-varscan-mutect	AXIN2,missense_variant,p.Gln760His,ENST00000307078,NM_004655.3;AXIN2,missense_variant,p.Gln695His,ENST00000618960,;AXIN2,missense_variant,p.Gln695His,ENST00000375702,;AXIN2,intron_variant,,ENST00000611991,;AXIN2,non_coding_transcript_exon_variant,,ENST00000578251,;CTD-2535L24.2,downstream_gene_variant,,ENST00000577662,;	A	ENST00000307078	Transcript	missense_variant	2594/4259	2280/2532	760/843	Q/H	caG/caT		1		-1	AXIN2	HGNC	HGNC:904	protein_coding	YES	CCDS11662.1	ENSP00000302625	Q9Y2T1		UPI00001AEE5A	NM_004655.3	tolerated(0.09)		10/11																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	65534037	65534037	C	A	1	0	0	0	0	1	0	0	0	1394	680	24	2		2	AXIN2	17	65534037	Missense_Mutation	SNP	C	C3N-02149_TP	2333121	65534037	17723404	458	30390											
CACNG1	0	.	GRCh38	chr17	67055117	67055117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcagagtacagcatctcgGcagccgccatcgccatcttc	8	9	9	15	3	2	1	0	0	2	1	5	1	2	1	3	1	4	4	3	1	1	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.319G>A	p.Ala107Thr	p.A107T	ENST00000226021	3/4	113	104	9	129	129	0	strelka-varscan-mutect	CACNG1,missense_variant,p.Ala107Thr,ENST00000226021,NM_000727.3;	A	ENST00000226021	Transcript	missense_variant	390/1266	319/669	107/222	A/T	Gca/Aca		1		1	CACNG1	HGNC	HGNC:1405	protein_coding	YES	CCDS11668.1	ENSP00000226021	Q06432		UPI00001272A9	NM_000727.3	deleterious(0.04)		3/4		Pfam_domain:PF13903,hmmpanther:PTHR15025,hmmpanther:PTHR15025:SF1,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	67055117	67055117	G	A	1	0	0	0	0	1	0	0	0	2244	1203	42	3		3	CACNG1	17	67055117	Missense_Mutation	SNP	G	C3N-02149_TP	1521080	67055117	16202324	459	30391											
CD300E	0	.	GRCh38	chr17	74617251	74617251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatggtcacagtgaaggcGagagcctccgggtggtctct	7	9	15	10	2	2	2	1	1	1	1	4	3	3	2	2	4	2	1	2	4	1	0	rs746024197		C3N-02149_TP	C3N-02149_NB	G	G																c.255C>T	p.=	p.L85L	ENST00000392619	2/4	570	499	71	571	570	1	strelka-varscan-mutect	CD300E,synonymous_variant,p.=,ENST00000392619,NM_181449.2;CD300E,synonymous_variant,p.=,ENST00000412268,;	A	ENST00000392619	Transcript	synonymous_variant	372/3501	255/618	85/205	L	ctC/ctT	rs746024197,COSM1479964,COSM335451	1		-1	CD300E	HGNC	HGNC:28874	protein_coding	YES	CCDS11702.1	ENSP00000376395	Q496F6		UPI0000246EA0	NM_181449.2			2/4		PROSITE_profiles:PS50835,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF34,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs746024197	.												A	2	1	92	74617251	74617251	G	A	1	0	0	0	0	0	0	0	1	2702	1045	37	1		1	CD300E	17	74617251	Silent	SNP	G	C3N-02149_TP	7562134	74617251	8640190	460	30392											
NAT9	0	.	GRCh38	chr17	74772243	74772243	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcatcgcgagaacggcCtcagtgccaaggcccttacc	10	5	11	15	3	1	1	1	0	0	1	2	3	1	1	4	2	4	1	4	2	3	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.369G>T	p.Glu123Asp	p.E123D	ENST00000357814	5/7	321	257	64	296	296	0	strelka-varscan-mutect	NAT9,missense_variant,p.Glu123Asp,ENST00000357814,NM_001305083.1,NM_001305080.1,NM_001305078.1,NM_001305081.1,NM_015654.3;NAT9,missense_variant,p.Glu122Asp,ENST00000580301,NM_001305077.1;NAT9,missense_variant,p.Glu123Asp,ENST00000581136,;NAT9,missense_variant,p.Glu127Asp,ENST00000582870,;NAT9,missense_variant,p.Glu128Asp,ENST00000578822,;NAT9,missense_variant,p.Glu122Asp,ENST00000579218,;NAT9,missense_variant,p.Glu123Asp,ENST00000583476,NM_001305079.1;NAT9,missense_variant,p.Glu122Asp,ENST00000583757,NM_001305085.1;NAT9,missense_variant,p.Glu123Asp,ENST00000582524,NM_001305084.1;NAT9,intron_variant,,ENST00000580632,;TMEM104,upstream_gene_variant,,ENST00000335464,NM_017728.3;TMEM104,upstream_gene_variant,,ENST00000582330,;SLC9A3R1,downstream_gene_variant,,ENST00000262613,NM_004252.4;TMEM104,upstream_gene_variant,,ENST00000417024,;TMEM104,upstream_gene_variant,,ENST00000582773,NM_001321264.1;SLC9A3R1,downstream_gene_variant,,ENST00000413388,;SLC9A3R1,downstream_gene_variant,,ENST00000583369,;NAT9,downstream_gene_variant,,ENST00000581451,;TMEM104,upstream_gene_variant,,ENST00000578764,;NAT9,downstream_gene_variant,,ENST00000581466,;NAT9,downstream_gene_variant,,ENST00000578947,;NAT9,non_coding_transcript_exon_variant,,ENST00000580216,;NAT9,downstream_gene_variant,,ENST00000577428,;NAT9,downstream_gene_variant,,ENST00000585240,;NAT9,downstream_gene_variant,,ENST00000584409,;NAT9,downstream_gene_variant,,ENST00000583989,;NAT9,3_prime_UTR_variant,,ENST00000584022,;NAT9,non_coding_transcript_exon_variant,,ENST00000583834,;NAT9,non_coding_transcript_exon_variant,,ENST00000581762,;NAT9,non_coding_transcript_exon_variant,,ENST00000578798,;NAT9,non_coding_transcript_exon_variant,,ENST00000578862,;NAT9,downstream_gene_variant,,ENST00000582168,;SLC9A3R1,downstream_gene_variant,,ENST00000578958,;NAT9,downstream_gene_variant,,ENST00000582359,;NAT9,downstream_gene_variant,,ENST00000582993,;NAT9,downstream_gene_variant,,ENST00000583689,;NAT9,downstream_gene_variant,,ENST00000582118,;SLC9A3R1,downstream_gene_variant,,ENST00000581356,;NAT9,downstream_gene_variant,,ENST00000579837,;TMEM104,upstream_gene_variant,,ENST00000584246,;	A	ENST00000357814	Transcript	missense_variant	443/1875	369/624	123/207	E/D	gaG/gaT		1		-1	NAT9	HGNC	HGNC:23133	protein_coding	YES	CCDS11706.1	ENSP00000350467	Q9BTE0		UPI000007106D	NM_001305083.1,NM_001305080.1,NM_001305078.1,NM_001305081.1,NM_015654.3	deleterious(0)		5/7		Gene3D:3.40.630.30,Pfam_domain:PF13302,hmmpanther:PTHR13256,hmmpanther:PTHR13256:SF16,Superfamily_domains:SSF55729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	74772243	74772243	C	A	1	0	0	0	0	1	0	0	0	10190	680	24	2		2	NAT9	17	74772243	Missense_Mutation	SNP	C	C3N-02149_TP	154992	74772243	8485198	461	30393											
EVPL	0	.	GRCh38	chr17	76009170	76009170	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacaccgcgtcctccgcggcCcgcctcttctgggccgcctc	2	8	10	21	6	2	0	0	0	2	0	5	0	4	0	7	2	1	0	7	2	1	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.4035G>A	p.=	p.R1345R	ENST00000301607	22/22	206	171	35	262	262	0	strelka-varscan-mutect	EVPL,synonymous_variant,p.=,ENST00000301607,NM_001988.2;EVPL,synonymous_variant,p.=,ENST00000586740,NM_001320747.1;TEN1-CDK3,downstream_gene_variant,,ENST00000569284,;CDK3,downstream_gene_variant,,ENST00000425876,;TEN1-CDK3,downstream_gene_variant,,ENST00000448471,NM_001258.2;EVPL,upstream_gene_variant,,ENST00000589231,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;TEN1-CDK3,downstream_gene_variant,,ENST00000567351,;EVPL,downstream_gene_variant,,ENST00000593037,;	T	ENST00000301607	Transcript	synonymous_variant	4289/6614	4035/6102	1345/2033	R	cgG/cgA		1		-1	EVPL	HGNC	HGNC:3503	protein_coding	YES	CCDS11737.1	ENSP00000301607	Q92817		UPI000013E730	NM_001988.2			22/22		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7																	LOW	1	SNV	1			1										PASS		rs1276121224	.												T	2	4	92	76009170	76009170	C	T	1	0	0	0	0	0	0	0	1	5159	610	22	3		3	EVPL	17	76009170	Silent	SNP	C	C3N-02149_TP	1236927	76009170	7248271	462	30394											
DNAH17	0	.	GRCh38	chr17	78574938	78574938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttcaaagaactctgtGaacagggccacgttctcctc	9	11	9	12	1	3	2	1	1	2	1	5	2	3	2	2	2	2	2	2	2	3	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.120C>A	p.Phe40Leu	p.F40L	ENST00000389840	2/81	412	326	86	490	489	1	strelka-varscan-mutect	DNAH17,missense_variant,p.Phe40Leu,ENST00000389840,NM_173628.3;DNAH17,missense_variant,p.Phe40Leu,ENST00000585328,;DNAH17,upstream_gene_variant,,ENST00000589793,;	T	ENST00000389840	Transcript	missense_variant	245/13723	120/13389	40/4462	F/L	ttC/ttA		1		-1	DNAH17	HGNC	HGNC:2946	protein_coding	YES		ENSP00000374490	Q9UFH2		UPI0001B25601	NM_173628.3	tolerated(1)		2/81		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF284																	MODERATE	1	SNV	5			1										PASS		rs1048073129	.												T	3	4	92	78574938	78574938	G	T	1	0	0	0	0	1	0	0	0	4416	1281	45	2		2	DNAH17	17	78574938	Missense_Mutation	SNP	G	C3N-02149_TP	2565768	78574938	4682503	463	30395											
CCDC40	0	.	GRCh38	chr17	80086078	80086078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgagcacgatggcaaggcgGtccaggcccaggtgacctgg	9	4	16	12	3	0	1	0	1	0	0	1	3	1	1	3	6	1	2	3	6	1	0	rs371360520		C3N-02149_TP	C3N-02149_NB	G	G																c.2311G>T	p.Val771Phe	p.V771F	ENST00000397545	14/20	580	467	113	607	607	0	strelka-varscan-mutect	CCDC40,missense_variant,p.Val771Phe,ENST00000397545,NM_017950.3;CCDC40,missense_variant,p.Val771Phe,ENST00000374877,NM_001243342.1;CCDC40,upstream_gene_variant,,ENST00000573903,;CCDC40,non_coding_transcript_exon_variant,,ENST00000572253,;CCDC40,non_coding_transcript_exon_variant,,ENST00000574799,;CCDC40,upstream_gene_variant,,ENST00000575431,;CCDC40,upstream_gene_variant,,ENST00000574933,;	T	ENST00000397545	Transcript	missense_variant	2338/4294	2311/3429	771/1142	V/F	Gtc/Ttc	rs371360520	1		1	CCDC40	HGNC	HGNC:26090	protein_coding	YES	CCDS42395.1	ENSP00000380679	Q4G0X9		UPI0000201739	NM_017950.3	tolerated(0.07)		14/20		hmmpanther:PTHR16275																	MODERATE	1	SNV	5			1										PASS		rs371360520	.												T	3	4	92	80086078	80086078	G	T	1	0	0	0	0	1	0	0	0	2521	1261	44	2		2	CCDC40	17	80086078	Missense_Mutation	SNP	G	C3N-02149_TP	1511140	80086078	3171363	464	30396											
GAA	0	.	GRCh38	chr17	80118295	80118295	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagctgttctgggacgatGgagagagcctggaagtgctg	8	8	19	6	1	1	1	0	0	1	1	1	7	1	5	1	4	3	3	1	4	1	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.2584G>T	p.Gly862Ter	p.G862*	ENST00000302262	18/20	43	37	6	34	34	0	strelka-mutect	GAA,stop_gained,p.Gly862Ter,ENST00000302262,NM_000152.3;GAA,stop_gained,p.Gly862Ter,ENST00000390015,NM_001079803.1,NM_001079804.1;GAA,non_coding_transcript_exon_variant,,ENST00000573556,;GAA,downstream_gene_variant,,ENST00000572080,;	T	ENST00000302262	Transcript	stop_gained	2803/3626	2584/2859	862/952	G/*	Gga/Tga		1		1	GAA	HGNC	HGNC:4065	protein_coding	YES	CCDS32760.1	ENSP00000305692	P10253		UPI00000744FF	NM_000152.3			18/20		hmmpanther:PTHR22762:SF92,hmmpanther:PTHR22762																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	92	80118295	80118295	G	T	1	0	0	0	0	0	1	0	0	6018	1349	47	2		2	GAA	17	80118295	Nonsense_Mutation	SNP	G	C3N-02149_TP	32217	80118295	3139146	465	30397											
ACTG1	0	.	GRCh38	chr17	81510966	81510966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccagggcggtgatctcCttctgcatcctgtcggcaat	5	10	13	13	3	2	1	0	1	2	0	5	1	3	1	3	4	1	2	3	4	1	1	rs727502881		C3N-02149_TP	C3N-02149_NB	C	C																c.945G>T	p.Lys315Asn	p.K315N	ENST00000575842	4/5	530	478	52	665	665	0	strelka-varscan-mutect	ACTG1,missense_variant,p.Lys315Asn,ENST00000575842,;ACTG1,missense_variant,p.Lys315Asn,ENST00000573283,NM_001199954.1;ACTG1,missense_variant,p.Lys315Asn,ENST00000575087,;ACTG1,missense_variant,p.Lys315Asn,ENST00000331925,NM_001614.3;ACTG1,missense_variant,p.Lys315Asn,ENST00000615544,;ACTG1,downstream_gene_variant,,ENST00000575994,;ACTG1,downstream_gene_variant,,ENST00000571721,;ACTG1,downstream_gene_variant,,ENST00000571691,;ACTG1,downstream_gene_variant,,ENST00000575659,;ACTG1,downstream_gene_variant,,ENST00000570382,;RP13-766D20.2,upstream_gene_variant,,ENST00000430912,;ACTG1,missense_variant,p.Lys315Asn,ENST00000576544,;ACTG1,3_prime_UTR_variant,,ENST00000572105,;ACTG1,non_coding_transcript_exon_variant,,ENST00000576917,;ACTG1,non_coding_transcript_exon_variant,,ENST00000576209,;ACTG1,non_coding_transcript_exon_variant,,ENST00000574671,;ACTG1,downstream_gene_variant,,ENST00000576214,;RP13-766D20.1,upstream_gene_variant,,ENST00000448147,;	A	ENST00000575842	Transcript	missense_variant	1372/2256	945/1128	315/375	K/N	aaG/aaT	rs727502881	1		-1	ACTG1	HGNC	HGNC:144	protein_coding	YES	CCDS11782.1	ENSP00000458162	P63261		UPI0000000C38		deleterious_low_confidence(0.03)		4/5		hmmpanther:PTHR11937:SF244,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067										likely_benign							MODERATE	1	SNV	1		1	1										PASS		rs727502881	.												A	3	1	92	81510966	81510966	C	A	1	0	0	0	0	1	0	0	0	239	680	24	2		2	ACTG1	17	81510966	Missense_Mutation	SNP	C	C3N-02149_TP	1392671	81510966	1746475	466	30398											
FSCN2	0	.	GRCh38	chr17	81529089	81529089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggagccgacggtactgcctCaagtcctgtgacagccgcta	8	7	12	14	4	1	1	1	1	0	0	2	3	2	2	4	2	4	2	4	2	3	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.558C>T	p.=	p.L186L	ENST00000334850	1/5	594	553	41	619	619	0	strelka-varscan-mutect	FSCN2,synonymous_variant,p.=,ENST00000417245,NM_012418.3;FSCN2,synonymous_variant,p.=,ENST00000334850,NM_001077182.2;RP13-766D20.2,downstream_gene_variant,,ENST00000442532,;RP13-766D20.2,downstream_gene_variant,,ENST00000430912,;	T	ENST00000334850	Transcript	synonymous_variant	558/1551	558/1551	186/516	L	ctC/ctT		1		1	FSCN2	HGNC	HGNC:3960	protein_coding	YES	CCDS45810.1	ENSP00000334665	O14926		UPI0000E5925D	NM_001077182.2			1/5		hmmpanther:PTHR10551:SF4,hmmpanther:PTHR10551,Pfam_domain:PF06268,Gene3D:2.80.10.50,Superfamily_domains:SSF50405																	LOW		SNV	5			1										PASS		.	.												T	2	4	92	81529089	81529089	C	T	1	0	0	0	0	0	0	0	1	5941	813	29	3		3	FSCN2	17	81529089	Silent	SNP	C	C3N-02149_TP	18123	81529089	1728352	467	30399											
FASN	0	.	GRCh38	chr17	82083610	82083610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctggcctgcagcttctcttCcgccaaggagttcaagacca	8	9	10	14	1	2	1	1	0	1	1	4	2	3	2	4	2	2	4	4	2	2	3			C3N-02149_TP	C3N-02149_NB	C	C																c.5248G>A	p.Glu1750Lys	p.E1750K	ENST00000306749	31/43	676	611	65	718	717	1	strelka-varscan-mutect	FASN,missense_variant,p.Glu1750Lys,ENST00000306749,NM_004104.4;FASN,missense_variant,p.Glu1748Lys,ENST00000634990,;FASN,upstream_gene_variant,,ENST00000636628,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,upstream_gene_variant,,ENST00000580382,;FASN,downstream_gene_variant,,ENST00000579410,;	T	ENST00000306749	Transcript	missense_variant	5467/8565	5248/7536	1750/2511	E/K	Gaa/Aaa	COSM4854005	1		-1	FASN	HGNC	HGNC:3594	protein_coding	YES	CCDS11801.1	ENSP00000304592	P49327		UPI000013EB82	NM_004104.4	deleterious(0.01)		31/43		Gene3D:3.40.50.720,Pfam_domain:PF00107,hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF280,SMART_domains:SM00829,Superfamily_domains:SSF51735											1						MODERATE	1	SNV	1		1	1										PASS		rs1464240266	.												T	3	4	92	82083610	82083610	C	T	1	0	0	0	0	1	0	0	0	5543	864	30	3		3	FASN	17	82083610	Missense_Mutation	SNP	C	C3N-02149_TP	554521	82083610	1173831	468	30400											
FASN	0	.	GRCh38	chr17	82084911	82084911	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggagcccgggtccacctcCgggacgtgggaggtgctgct	4	6	18	13	4	0	0	0	0	0	0	2	3	2	3	4	5	3	2	4	5	0	0	rs375434672		C3N-02149_TP	C3N-02149_NB	C	C																c.4452G>T	p.=	p.P1484P	ENST00000306749	26/43	286	267	19	284	283	1	strelka-varscan-mutect	FASN,synonymous_variant,p.=,ENST00000306749,NM_004104.4;FASN,synonymous_variant,p.=,ENST00000634990,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,upstream_gene_variant,,ENST00000580382,;FASN,downstream_gene_variant,,ENST00000579410,;	A	ENST00000306749	Transcript	synonymous_variant	4671/8565	4452/7536	1484/2511	P	ccG/ccT	rs375434672	1		-1	FASN	HGNC	HGNC:3594	protein_coding	YES	CCDS11801.1	ENSP00000304592	P49327		UPI000013EB82	NM_004104.4			26/43		hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF280																	LOW	1	SNV	1			1										PASS		rs375434672	.												A	2	1	92	82084911	82084911	C	A	1	0	0	0	0	0	0	0	1	5543	639	23	1		1	FASN	17	82084911	Silent	SNP	C	C3N-02149_TP	1301	82084911	1172530	469	30401											
SECTM1	0	.	GRCh38	chr17	82324580	82324580	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccccgagcctcccctcAcctgaaacctccagcgtgac	7	7	7	20	2	1	2	1	2	0	0	4	3	4	2	8	0	3	1	8	0	1	1	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.403+2T>G		p.X135_splice	ENST00000269389		74	70	4	83	83	0	varscan-mutect	SECTM1,splice_donor_variant,,ENST00000269389,NM_003004.2;SECTM1,splice_donor_variant,,ENST00000580437,;SECTM1,splice_donor_variant,,ENST00000581691,;SECTM1,splice_donor_variant,,ENST00000582563,;SECTM1,splice_donor_variant,,ENST00000583093,;SECTM1,downstream_gene_variant,,ENST00000582290,;SECTM1,downstream_gene_variant,,ENST00000581954,;SECTM1,splice_donor_variant,,ENST00000581864,;	C	ENST00000269389	Transcript	splice_donor_variant	-/2235	403/747	135/248				1		-1	SECTM1	HGNC	HGNC:10707	protein_coding	YES	CCDS11808.1	ENSP00000269389	Q8WVN6		UPI00000359A5	NM_003004.2				3/4																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	92	82324580	82324580	A	C	1	0	0	0	0	0	0	1	0	14285	173	6	5		5	SECTM1	17	82324580	Splice_Site	SNP	A	C3N-02149_TP	239669	82324580	932861	470	30402											
NDC80	0	.	GRCh38	chr18	2578085	2578085	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcctgtgcccctcataCgaacttcctgacacaaagtt	9	11	7	14	1	1	1	1	1	0	0	3	2	3	1	4	1	3	2	4	1	3	4	rs751095916		C3N-02149_TP	C3N-02149_NB	C	C																c.420C>T	p.=	p.Y140Y	ENST00000261597	5/17	230	215	15	338	338	0	strelka-varscan-mutect	NDC80,synonymous_variant,p.=,ENST00000261597,NM_006101.2;NDC80,synonymous_variant,p.=,ENST00000576274,;NDC80,downstream_gene_variant,,ENST00000575515,;NDC80,upstream_gene_variant,,ENST00000574567,;	T	ENST00000261597	Transcript	synonymous_variant	602/2172	420/1929	140/642	Y	taC/taT	rs751095916	1		1	NDC80	HGNC	HGNC:16909	protein_coding	YES	CCDS11827.1	ENSP00000261597	O14777	A8K031	UPI0000073C92	NM_006101.2			5/17		Pfam_domain:PF03801,hmmpanther:PTHR10643,hmmpanther:PTHR10643:SF2																	LOW	1	SNV	1			1										PASS		rs751095916	.												T	2	4	92	2578085	2578085	C	T	1	0	0	0	0	0	0	0	1	10263	547	19	1		1	NDC80	18	2578085	Silent	SNP	C	C3N-02149_TP		2578085	77795200	471	30403											
MTCL1	0	.	GRCh38	chr18	8720444	8720444	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgacagcagatgattgAagtggaaatatccaaacagg	15	8	10	8	1	1	3	0	2	1	1	3	5	2	4	2	2	2	1	2	2	4	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.305A>T	p.Glu102Val	p.E102V	ENST00000359865	4/17	330	202	128	325	325	0	strelka-varscan-mutect	MTCL1,missense_variant,p.Glu102Val,ENST00000359865,NM_015210.3;MTCL1,missense_variant,p.Glu102Val,ENST00000400050,;MTCL1,missense_variant,p.Glu102Val,ENST00000517570,;MTCL1,missense_variant,p.Glu462Val,ENST00000306329,;MTCL1,downstream_gene_variant,,ENST00000523122,;Y_RNA,upstream_gene_variant,,ENST00000516510,;MTCL1,non_coding_transcript_exon_variant,,ENST00000522146,;	T	ENST00000359865	Transcript	missense_variant	447/6093	305/4761	102/1586	E/V	gAa/gTa		1		1	MTCL1	HGNC	HGNC:29121	protein_coding	YES	CCDS11841.1	ENSP00000352927	Q9Y4B5		UPI0000456B5B	NM_015210.3	deleterious(0)		4/17		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF3																	MODERATE	1	SNV	2			1										PASS		rs924193384	.												T	3	4	92	8720444	8720444	A	T	1	0	0	0	0	1	0	0	0	9900	246	9	4		4	MTCL1	18	8720444	Missense_Mutation	SNP	A	C3N-02149_TP	6142359	8720444	71652841	472	30404											
MTCL1	0	.	GRCh38	chr18	8819200	8819200	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccttgtccctggatgacGagccagaagagccaccagcc	10	6	11	14	1	0	3	0	1	0	2	1	5	1	4	6	1	4	0	6	1	1	1	rs571648534		C3N-02149_TP	C3N-02149_NB	G	G																c.3097G>T	p.Glu1033Ter	p.E1033*	ENST00000359865	13/17	390	357	33	345	342	3	strelka-varscan-mutect	MTCL1,stop_gained,p.Glu1033Ter,ENST00000359865,NM_015210.3;MTCL1,stop_gained,p.Glu1033Ter,ENST00000400050,;MTCL1,stop_gained,p.Glu992Ter,ENST00000517570,;MTCL1,stop_gained,p.Glu1352Ter,ENST00000306329,;MTCL1,stop_gained,p.Glu358Ter,ENST00000518815,;MTCL1,non_coding_transcript_exon_variant,,ENST00000519823,;MTCL1,downstream_gene_variant,,ENST00000520926,;	T	ENST00000359865	Transcript	stop_gained	3239/6093	3097/4761	1033/1586	E/*	Gag/Tag	rs571648534	1		1	MTCL1	HGNC	HGNC:29121	protein_coding	YES	CCDS11841.1	ENSP00000352927	Q9Y4B5		UPI0000456B5B	NM_015210.3			13/17		hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF3,Low_complexity_(Seg):seg																	HIGH	1	SNV	2			1										PASS		rs571648534	.												T	4	4	92	8819200	8819200	G	T	1	0	0	0	0	0	1	0	0	9900	1059	37	1		1	MTCL1	18	8819200	Nonsense_Mutation	SNP	G	C3N-02149_TP	98756	8819200	71554085	473	30405											
ZNF521	0	.	GRCh38	chr18	25226897	25226897	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagggaagggctgttgcTgtgattgcatgactccggtt	7	11	15	8	1	0	2	0	2	0	0	1	4	1	3	2	3	2	5	2	3	1	3	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1021A>T	p.Ser341Cys	p.S341C	ENST00000361524	4/8	400	309	91	472	470	2	strelka-varscan-mutect	ZNF521,missense_variant,p.Ser341Cys,ENST00000361524,NM_015461.2;ZNF521,missense_variant,p.Ser121Cys,ENST00000584787,NM_001308225.1;ZNF521,missense_variant,p.Ser341Cys,ENST00000538137,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,missense_variant,p.Ser341Cys,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	A	ENST00000361524	Transcript	missense_variant	1170/4871	1021/3936	341/1311	S/C	Agc/Tgc		1		-1	ZNF521	HGNC	HGNC:24605	protein_coding	YES	CCDS32806.1	ENSP00000354794	Q96K83		UPI000006F982	NM_015461.2	deleterious(0.01)		4/8		hmmpanther:PTHR24402:SF222,hmmpanther:PTHR24402																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	25226897	25226897	T	A	1	0	0	0	0	1	0	0	0	18537	1580	55	4		4	ZNF521	18	25226897	Missense_Mutation	SNP	T	C3N-02149_TP	16407697	25226897	55146388	474	30406											
GAREM1	0	.	GRCh38	chr18	32310243	32310243	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtacacgcgttcaggaaatgCcttagccacctcctccacac	10	8	7	16	2	1	0	1	0	0	0	3	1	3	1	5	1	3	2	5	1	3	3	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.343G>T	p.Ala115Ser	p.A115S	ENST00000269209	3/6	306	259	47	370	368	2	strelka-varscan-mutect	GAREM1,missense_variant,p.Ala115Ser,ENST00000399218,NM_022751.2;GAREM1,missense_variant,p.Ala115Ser,ENST00000269209,NM_001242409.1;GAREM1,non_coding_transcript_exon_variant,,ENST00000578619,;	A	ENST00000269209	Transcript	missense_variant	347/3006	343/2631	115/876	A/S	Gca/Tca		1		-1	GAREM1	HGNC	HGNC:26136	protein_coding	YES	CCDS56057.1	ENSP00000269209	Q9H706		UPI00005A72DA	NM_001242409.1	tolerated(0.15)		3/6		Pfam_domain:PF12736,hmmpanther:PTHR14454,hmmpanther:PTHR14454:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	32310243	32310243	C	A	1	0	0	0	0	1	0	0	0	6109	739	26	2		2	GAREM1	18	32310243	Missense_Mutation	SNP	C	C3N-02149_TP	7083346	32310243	48063042	475	30407											
PIK3C3	0	.	GRCh38	chr18	41987877	41987877	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatagattgacatttagAgaaatagaaatgataaatga	19	11	9	2	0	0	6	0	3	0	3	0	8	0	7	0	1	0	0	0	1	7	6	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.597A>G	p.=	p.R199R	ENST00000262039	5/25	226	213	13	237	237	0	strelka-varscan-mutect	PIK3C3,synonymous_variant,p.=,ENST00000262039,NM_002647.2;PIK3C3,synonymous_variant,p.=,ENST00000398870,NM_001308020.1;PIK3C3,non_coding_transcript_exon_variant,,ENST00000589550,;PIK3C3,downstream_gene_variant,,ENST00000591011,;	G	ENST00000262039	Transcript	synonymous_variant	683/9443	597/2664	199/887	R	agA/agG		1		1	PIK3C3	HGNC	HGNC:8974	protein_coding	YES	CCDS11920.1	ENSP00000262039	Q8NEB9		UPI00000708CE	NM_002647.2			5/25		Gene3D:2.60.40.150,PIRSF_domain:PIRSF000587,hmmpanther:PTHR10048																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	92	41987877	41987877	A	G	1	0	0	0	0	0	0	0	1	12007	301	11	5		5	PIK3C3	18	41987877	Silent	SNP	A	C3N-02149_TP	9677634	41987877	38385408	476	30408											
NFATC1	0	.	GRCh38	chr18	79410804	79410804	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagcccggccagcagcCtgtcctcccggagctgcaac	6	5	12	18	2	0	1	0	1	0	0	2	2	2	2	6	2	6	3	6	2	1	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.529C>T	p.=	p.L177L	ENST00000427363	2/10	102	72	30	146	146	0	strelka-varscan-mutect	NFATC1,synonymous_variant,p.=,ENST00000591814,NM_172390.2;NFATC1,synonymous_variant,p.=,ENST00000253506,NM_006162.4;NFATC1,synonymous_variant,p.=,ENST00000329101,NM_172387.2;NFATC1,synonymous_variant,p.=,ENST00000318065,NM_172389.2;NFATC1,synonymous_variant,p.=,ENST00000427363,NM_001278669.1;NFATC1,synonymous_variant,p.=,ENST00000592223,NM_001278675.1;NFATC1,synonymous_variant,p.=,ENST00000587635,;NFATC1,synonymous_variant,p.=,ENST00000542384,NM_001278670.1;NFATC1,synonymous_variant,p.=,ENST00000586434,NM_001278672.1;NFATC1,intron_variant,,ENST00000545796,NM_001278673.1;NFATC1,intron_variant,,ENST00000397790,NM_172388.2;NFATC1,intron_variant,,ENST00000590313,;	T	ENST00000427363	Transcript	synonymous_variant	529/2832	529/2832	177/943	L	Ctg/Ttg		1		1	NFATC1	HGNC	HGNC:7775	protein_coding	YES	CCDS62467.1	ENSP00000389377	O95644		UPI000012FFB5	NM_001278669.1			2/10		Low_complexity_(Seg):seg,hmmpanther:PTHR12533:SF5,hmmpanther:PTHR12533																	LOW	1	SNV	1			1										PASS		rs1209927294	.												T	2	4	92	79410804	79410804	C	T	1	0	0	0	0	0	0	0	1	10398	680	24	3		3	NFATC1	18	79410804	Silent	SNP	C	C3N-02149_TP	37422927	79410804	962481	477	30409											
PARD6G	0	.	GRCh38	chr18	80159830	80159830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcggcagcgccaggctgtGacgggggtcggcccgcaggg	4	4	21	12	5	0	1	0	1	0	0	1	1	0	1	2	7	1	3	2	7	0	0			C3N-02149_TP	C3N-02149_NB	G	G																c.1072C>T	p.His358Tyr	p.H358Y	ENST00000353265	3/3	82	62	20	167	167	0	strelka-varscan-mutect	PARD6G,missense_variant,p.His358Tyr,ENST00000353265,NM_032510.3;PARD6G-AS1,intron_variant,,ENST00000586421,;PARD6G-AS1,intron_variant,,ENST00000589574,;PARD6G-AS1,intron_variant,,ENST00000587254,;PARD6G-AS1,intron_variant,,ENST00000585422,;AC139100.4,upstream_gene_variant,,ENST00000616901,;	A	ENST00000353265	Transcript	missense_variant	1270/3868	1072/1131	358/376	H/Y	Cac/Tac	COSM4953167	1		-1	PARD6G	HGNC	HGNC:16076	protein_coding	YES	CCDS12022.1	ENSP00000343144	Q9BYG4		UPI000006DC0F	NM_032510.3	deleterious_low_confidence(0.01)		3/3		hmmpanther:PTHR14102,hmmpanther:PTHR14102:SF3											1						MODERATE	1	SNV	1		1	1										PASS		rs1036144243	.												A	3	1	92	80159830	80159830	G	A	1	0	0	0	0	1	0	0	0	11527	1290	45	3		3	PARD6G	18	80159830	Missense_Mutation	SNP	G	C3N-02149_TP	749026	80159830	213455	478	30410											
STK11	0	.	GRCh38	chr19	1223059	1223059	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagacaccaaggaccggtGgcgcagcatgactgtggtgc	9	5	14	13	2	0	2	0	1	0	1	0	3	0	3	3	4	2	2	3	4	1	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.995G>A	p.Trp332Ter	p.W332*	ENST00000326873	8/10	165	133	32	234	234	0	strelka-varscan-mutect	STK11,stop_gained,p.Trp332Ter,ENST00000586243,;STK11,stop_gained,p.Trp332Ter,ENST00000326873,NM_000455.4;STK11,upstream_gene_variant,,ENST00000585465,;STK11,downstream_gene_variant,,ENST00000585748,;STK11,downstream_gene_variant,,ENST00000585851,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000591133,;STK11,downstream_gene_variant,,ENST00000586358,;STK11,downstream_gene_variant,,ENST00000593219,;	A	ENST00000326873	Transcript	stop_gained	1445/2611	995/1302	332/433	W/*	tGg/tAg		1		1	STK11	HGNC	HGNC:11389	protein_coding	YES	CCDS45896.1	ENSP00000324856	Q15831	A0A0S2Z4D1	UPI0000136105	NM_000455.4			8/10		Gene3D:1.10.510.10,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF159,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	92	1223059	1223059	G	A	1	0	0	0	0	0	1	0	0	15664	1357	47	3		3	STK11	19	1223059	Nonsense_Mutation	SNP	G	C3N-02149_TP		1223059	57394557	479	30411											
S1PR4	0	.	GRCh38	chr19	3178905	3178905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggccggctggccgggcGcggggggccggaggatggcg	2	3	24	12	7	0	0	0	0	0	0	1	2	0	2	3	10	0	1	3	10	0	0	rs776238408		C3N-02149_TP	C3N-02149_NB	G	G																c.113G>T	p.Arg38Leu	p.R38L	ENST00000246115	1/1	140	117	23	151	151	0	strelka-varscan-mutect	S1PR4,missense_variant,p.Arg38Leu,ENST00000246115,NM_003775.3;S1PR4,intron_variant,,ENST00000591346,;	T	ENST00000246115	Transcript	missense_variant	138/1565	113/1155	38/384	R/L	cGc/cTc	rs776238408	1		1	S1PR4	HGNC	HGNC:3170	protein_coding	YES	CCDS12105.1	ENSP00000246115	O95977		UPI0000050462	NM_003775.3	deleterious(0.03)		1/1		hmmpanther:PTHR22750:SF13,hmmpanther:PTHR22750,Prints_domain:PR01526																	MODERATE	1	SNV				1										PASS		rs776238408	.												T	3	4	92	3178905	3178905	G	T	1	0	0	0	0	1	0	0	0	14055	1087	38	1		1	S1PR4	19	3178905	Missense_Mutation	SNP	G	C3N-02149_TP	1955846	3178905	55438711	480	30412											
VAV1	0	.	GRCh38	chr19	6828841	6828841	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctctggctcactatggccgGcccaagatcgacggggaact	8	8	12	13	3	2	1	1	0	1	1	4	3	2	2	2	5	1	1	2	5	3	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1206G>T	p.=	p.R402R	ENST00000602142	13/27	270	222	48	345	345	0	strelka-varscan-mutect	VAV1,synonymous_variant,p.=,ENST00000304076,NM_001258206.1;VAV1,synonymous_variant,p.=,ENST00000596764,NM_001258207.1;VAV1,synonymous_variant,p.=,ENST00000599806,;VAV1,synonymous_variant,p.=,ENST00000539284,;VAV1,synonymous_variant,p.=,ENST00000602142,NM_005428.3;VAV1,non_coding_transcript_exon_variant,,ENST00000601452,;VAV1,non_coding_transcript_exon_variant,,ENST00000600396,;VAV1,non_coding_transcript_exon_variant,,ENST00000597967,;VAV1,downstream_gene_variant,,ENST00000594082,;	T	ENST00000602142	Transcript	synonymous_variant	1288/2620	1206/2538	402/845	R	cgG/cgT		1		1	VAV1	HGNC	HGNC:12657	protein_coding	YES	CCDS12174.1	ENSP00000472929	P15498		UPI0000138213	NM_005428.3			13/27		PROSITE_profiles:PS50003,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF97,Gene3D:2.30.29.30,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	6828841	6828841	G	T	1	0	0	0	0	0	0	0	1	17676	1190	42	2		2	VAV1	19	6828841	Silent	SNP	G	C3N-02149_TP	3649936	6828841	51788775	481	30413											
COL5A3	0	.	GRCh38	chr19	9960875	9960875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcactggggacccgtcggCgtccacgtaggagaactggt	8	8	14	11	4	1	1	1	0	0	1	3	3	2	2	2	5	1	1	2	5	2	2	rs200584685		C3N-02149_TP	C3N-02149_NB	C	C																c.4867G>T	p.Ala1623Ser	p.A1623S	ENST00000264828	66/67	171	159	12	212	212	0	strelka-varscan-mutect	COL5A3,missense_variant,p.Ala1623Ser,ENST00000264828,NM_015719.3;	A	ENST00000264828	Transcript	missense_variant	4953/6174	4867/5238	1623/1745	A/S	Gcc/Tcc	rs200584685	1		-1	COL5A3	HGNC	HGNC:14864	protein_coding	YES	CCDS12222.1	ENSP00000264828	P25940		UPI00002032A3	NM_015719.3	tolerated(0.64)		66/67		PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF516,Pfam_domain:PF01410,SMART_domains:SM00038																	MODERATE	1	SNV	1			1										PASS		rs200584685	.												A	3	1	92	9960875	9960875	C	A	1	0	0	0	0	1	0	0	0	3487	768	27	1		1	COL5A3	19	9960875	Missense_Mutation	SNP	C	C3N-02149_TP	3132034	9960875	48656741	482	30414											
COL5A3	0	.	GRCh38	chr19	9998015	9998015	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggctcctggaggtccctcaAactgctgcccctgaagggag	7	7	14	13	0	1	1	1	1	0	0	3	3	3	3	4	4	3	2	4	4	2	0			C3N-02149_TP	C3N-02149_NB	A	A																c.1169T>G	p.Phe390Cys	p.F390C	ENST00000264828	10/67	187	158	29	289	288	1	strelka-varscan-mutect	COL5A3,missense_variant,p.Phe390Cys,ENST00000264828,NM_015719.3;CTD-2553C6.1,downstream_gene_variant,,ENST00000592332,;	C	ENST00000264828	Transcript	missense_variant	1255/6174	1169/5238	390/1745	F/C	tTt/tGt	COSM3528025	1		-1	COL5A3	HGNC	HGNC:14864	protein_coding	YES	CCDS12222.1	ENSP00000264828	P25940		UPI00002032A3	NM_015719.3	deleterious(0.01)		10/67													1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	92	9998015	9998015	A	C	1	0	0	0	0	1	0	0	0	3487	14	1	5		5	COL5A3	19	9998015	Missense_Mutation	SNP	A	C3N-02149_TP	37140	9998015	48619601	483	30415											
ZNF844	0	.	GRCh38	chr19	12076090	12076090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattcaagtgtcccagttatCtttgtagacatgaagtgacc	11	13	8	9	0	2	3	1	2	1	1	3	3	3	3	2	0	0	2	2	0	4	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.970C>G	p.Leu324Val	p.L324V	ENST00000439326	4/4	314	284	30	427	427	0	strelka-varscan-mutect	ZNF844,missense_variant,p.Leu324Val,ENST00000439326,NM_001136501.1;ZNF844,3_prime_UTR_variant,,ENST00000441304,;ZNF844,downstream_gene_variant,,ENST00000550826,;	G	ENST00000439326	Transcript	missense_variant	1145/6620	970/2001	324/666	L/V	Ctt/Gtt		1		1	ZNF844	HGNC	HGNC:25932	protein_coding	YES	CCDS45985.1	ENSP00000392024	Q08AG5		UPI0000185F5D	NM_001136501.1	tolerated(0.11)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24379:SF28,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	12076090	12076090	C	G	1	0	0	0	0	1	0	0	0	18778	913	32	4		4	ZNF844	19	12076090	Missense_Mutation	SNP	C	C3N-02149_TP	2078075	12076090	46541526	484	30416											
RLN3	0	.	GRCh38	chr19	14030836	14030836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttacagggggcgacccaGctggcaaggaacccctgggg	8	6	15	12	1	0	0	0	0	0	0	0	2	0	1	3	6	3	2	3	6	3	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.317G>T	p.Ser106Ile	p.S106I	ENST00000431365	2/2	124	93	31	154	154	0	strelka-varscan-mutect	RLN3,missense_variant,p.Ser106Ile,ENST00000431365,NM_080864.2;RLN3,3_prime_UTR_variant,,ENST00000585987,;IL27RA,upstream_gene_variant,,ENST00000263379,NM_004843.3;CTB-55O6.4,downstream_gene_variant,,ENST00000590528,;	T	ENST00000431365	Transcript	missense_variant	374/580	317/429	106/142	S/I	aGc/aTc		1		1	RLN3	HGNC	HGNC:17135	protein_coding	YES	CCDS12302.1	ENSP00000397415	Q8WXF3		UPI0000042374	NM_080864.2	deleterious(0.03)		2/2		Pfam_domain:PF00049,hmmpanther:PTHR20968,hmmpanther:PTHR20968:SF0,SMART_domains:SM00078																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	14030836	14030836	G	T	1	0	0	0	0	1	0	0	0	13569	971	34	2		2	RLN3	19	14030836	Missense_Mutation	SNP	G	C3N-02149_TP	1954746	14030836	44586780	485	30417											
CCDC105	0	.	GRCh38	chr19	15021500	15021500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctggcgcagaaggcgaGcgagaccttggagctgaagg	9	5	17	10	4	0	3	0	1	0	2	1	6	0	4	1	4	2	3	1	4	2	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1022G>T	p.Ser341Ile	p.S341I	ENST00000292574	4/7	155	143	12	179	179	0	strelka-varscan-mutect	CCDC105,missense_variant,p.Ser341Ile,ENST00000292574,NM_173482.2;SLC1A6,intron_variant,,ENST00000595863,;	T	ENST00000292574	Transcript	missense_variant	1104/1732	1022/1500	341/499	S/I	aGc/aTc		1		1	CCDC105	HGNC	HGNC:26866	protein_coding	YES	CCDS12322.1	ENSP00000292574	Q8IYK2		UPI0000073091	NM_173482.2	tolerated(0.1)		4/7		hmmpanther:PTHR35081,Pfam_domain:PF03148																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	15021500	15021500	G	T	1	0	0	0	0	1	0	0	0	2437	971	34	2		2	CCDC105	19	15021500	Missense_Mutation	SNP	G	C3N-02149_TP	990664	15021500	43596116	486	30418											
CYP4F2	0	.	GRCh38	chr19	15885964	15885964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtccttcagaagttcttGcacctcctgccggcagcgct	6	10	10	15	3	2	1	1	0	1	1	4	1	4	1	4	2	3	4	4	2	1	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1075C>A	p.Gln359Lys	p.Q359K	ENST00000221700	9/13	130	108	22	207	206	1	strelka-varscan-mutect	CYP4F2,missense_variant,p.Gln359Lys,ENST00000221700,NM_001082.4;CYP4F2,missense_variant,p.Gln359Lys,ENST00000011989,;CYP4F2,missense_variant,p.Gln22Lys,ENST00000589654,;CYP4F2,3_prime_UTR_variant,,ENST00000587671,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000392846,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000592710,;	T	ENST00000221700	Transcript	missense_variant	1171/2407	1075/1563	359/520	Q/K	Caa/Aaa		1		-1	CYP4F2	HGNC	HGNC:2645	protein_coding	YES	CCDS12336.1	ENSP00000221700	P78329		UPI0000052BE6	NM_001082.4	tolerated(0.15)		9/13		hmmpanther:PTHR24291:SF45,hmmpanther:PTHR24291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	15885964	15885964	G	T	1	0	0	0	0	1	0	0	0	3991	1328	46	2		2	CYP4F2	19	15885964	Missense_Mutation	SNP	G	C3N-02149_TP	864464	15885964	42731652	487	30419											
SIN3B	0	.	GRCh38	chr19	16870039	16870039	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccgcagggagaagggcAgcgaccccgccatggagctg	9	2	18	12	3	0	1	0	0	0	1	0	4	0	2	4	4	2	3	4	4	1	0	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.2482A>T	p.Ser828Cys	p.S828C	ENST00000379803	14/20	92	68	24	121	121	0	strelka-varscan-mutect	SIN3B,missense_variant,p.Ser828Cys,ENST00000379803,NM_015260.3;SIN3B,missense_variant,p.Ser796Cys,ENST00000248054,NM_001297595.1;SIN3B,missense_variant,p.Ser386Cys,ENST00000595541,NM_001297597.1;SIN3B,non_coding_transcript_exon_variant,,ENST00000595900,;SIN3B,downstream_gene_variant,,ENST00000599880,;SIN3B,non_coding_transcript_exon_variant,,ENST00000602204,;SIN3B,downstream_gene_variant,,ENST00000594372,;	T	ENST00000379803	Transcript	missense_variant	2496/5129	2482/3489	828/1162	S/C	Agc/Tgc		1		1	SIN3B	HGNC	HGNC:19354	protein_coding	YES	CCDS32946.1	ENSP00000369131	O75182		UPI0000425EFA	NM_015260.3	tolerated(0.12)		14/20		hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF1,Pfam_domain:PF16879																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	16870039	16870039	A	T	1	0	0	0	0	1	0	0	0	14590	188	7	4		4	SIN3B	19	16870039	Missense_Mutation	SNP	A	C3N-02149_TP	984075	16870039	41747577	488	30420											
USHBP1	0	.	GRCh38	chr19	17259307	17259307	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtactgcaaggccagaTgcaatgctgtggcctcagcc	9	8	11	13	0	1	1	1	0	0	1	1	1	1	1	4	2	5	4	4	2	3	1	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1028A>T	p.His343Leu	p.H343L	ENST00000252597	7/13	108	85	23	124	124	0	varscan-mutect	USHBP1,missense_variant,p.His343Leu,ENST00000252597,NM_031941.3;USHBP1,missense_variant,p.His279Leu,ENST00000431146,NM_001297703.1;USHBP1,downstream_gene_variant,,ENST00000594190,;USHBP1,downstream_gene_variant,,ENST00000598309,;AC010646.3,upstream_gene_variant,,ENST00000594059,;USHBP1,downstream_gene_variant,,ENST00000598570,;USHBP1,downstream_gene_variant,,ENST00000595993,;USHBP1,missense_variant,p.His343Leu,ENST00000324554,;USHBP1,3_prime_UTR_variant,,ENST00000597928,;USHBP1,downstream_gene_variant,,ENST00000600286,;USHBP1,downstream_gene_variant,,ENST00000596436,;	A	ENST00000252597	Transcript	missense_variant	1202/3335	1028/2112	343/703	H/L	cAt/cTt		1		-1	USHBP1	HGNC	HGNC:24058	protein_coding	YES	CCDS12353.1	ENSP00000252597	Q8N6Y0	A0A024R7H3	UPI000006F7A8	NM_031941.3	deleterious(0.02)		7/13		hmmpanther:PTHR23347:SF5,hmmpanther:PTHR23347,Pfam_domain:PF10506																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	17259307	17259307	T	A	1	0	0	0	0	1	0	0	0	17571	1464	51	4		4	USHBP1	19	17259307	Missense_Mutation	SNP	T	C3N-02149_TP	389268	17259307	41358309	489	30421											
UNC13A	0	.	GRCh38	chr19	17656314	17656314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggagccctgcaggctgtgCtcgtcagggtcgaagtcctc	5	9	14	13	3	1	0	1	0	0	0	6	2	2	1	2	3	3	3	2	3	1	0	rs768640284		C3N-02149_TP	C3N-02149_NB	C	C																c.852G>T	p.Glu284Asp	p.E284D	ENST00000519716	10/44	144	116	28	195	195	0	strelka-varscan-mutect	UNC13A,missense_variant,p.Glu284Asp,ENST00000519716,NM_001080421.2;UNC13A,missense_variant,p.Glu284Asp,ENST00000551649,;UNC13A,missense_variant,p.Glu284Asp,ENST00000552293,;UNC13A,missense_variant,p.Glu284Asp,ENST00000550896,;	A	ENST00000519716	Transcript	missense_variant	852/9838	852/5112	284/1703	E/D	gaG/gaT	rs768640284	1		-1	UNC13A	HGNC	HGNC:23150	protein_coding	YES	CCDS46013.2	ENSP00000429562	Q9UPW8		UPI00006C19A7	NM_001080421.2	tolerated_low_confidence(0.44)		10/44		hmmpanther:PTHR10480																	MODERATE	1	SNV	5			1										PASS		rs768640284	.												A	3	1	92	17656314	17656314	C	A	1	0	0	0	0	1	0	0	0	17508	796	28	2		2	UNC13A	19	17656314	Missense_Mutation	SNP	C	C3N-02149_TP	397007	17656314	40961302	490	30422											
NCAN	0	.	GRCh38	chr19	19224431	19224431	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgctttgcccgggagctggGgggtaagtctgggactggca	5	10	18	8	1	1	0	0	0	1	0	1	2	1	2	1	6	3	4	1	6	1	3	rs760694042		C3N-02149_TP	C3N-02149_NB	G	G																c.776G>C	p.Gly259Ala	p.G259A	ENST00000252575	5/15	50	37	13	87	87	0	strelka-mutect	NCAN,missense_variant,p.Gly259Ala,ENST00000252575,NM_004386.2;NCAN,upstream_gene_variant,,ENST00000590187,;	C	ENST00000252575	Transcript	missense_variant,splice_region_variant	875/6387	776/3966	259/1321	G/A	gGg/gCg	rs760694042	1		1	NCAN	HGNC	HGNC:2465	protein_coding	YES	CCDS12397.1	ENSP00000252575	O14594	A0A024R7M3	UPI000013CD70	NM_004386.2	deleterious(0.04)		5/15		PROSITE_profiles:PS50963,hmmpanther:PTHR22804:SF24,hmmpanther:PTHR22804,SMART_domains:SM00445,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		rs760694042	.												C	3	2	92	19224431	19224431	G	C	1	0	0	0	0	1	0	0	0	10220	1246	43	4		4	NCAN	19	19224431	Missense_Mutation	SNP	G	C3N-02149_TP	1568117	19224431	39393185	491	30423											
ZNF708	0	.	GRCh38	chr19	21309246	21309246	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttcactctcacctacCtgggggtttggctgccatct	4	15	10	12	0	3	0	2	0	2	0	4	0	3	0	3	3	2	3	3	3	1	4	rs140295887		C3N-02149_TP	C3N-02149_NB	C	C																c.226G>C	p.Ala76Pro	p.A76P	ENST00000356929	3/4	93	85	8	164	164	0	varscan-mutect	ZNF708,missense_variant,p.Ala76Pro,ENST00000356929,NM_001297561.1,NM_021269.2;ZNF708,missense_variant,p.Ala12Pro,ENST00000601295,;ZNF708,splice_region_variant,,ENST00000602023,;ZNF708,splice_region_variant,,ENST00000598046,;	G	ENST00000356929	Transcript	missense_variant,splice_region_variant	424/4004	226/1692	76/563	A/P	Gct/Cct	rs140295887	1		-1	ZNF708	HGNC	HGNC:12945	protein_coding	YES	CCDS32980.1	ENSP00000349401	P17019		UPI000041F9DE	NM_001297561.1,NM_021269.2	deleterious(0.01)		3/4		hmmpanther:PTHR24384:SF128,hmmpanther:PTHR24384																	MODERATE	1	SNV	2			1										PASS		rs140295887	.												G	3	3	92	21309246	21309246	C	G	1	0	0	0	0	1	0	0	0	18687	695	24	4		4	ZNF708	19	21309246	Missense_Mutation	SNP	C	C3N-02149_TP	2084815	21309246	37308370	492	30424											
CEP89	0	.	GRCh38	chr19	32948286	32948286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgttgtgtccgctgtGgtgcaggaggggagcctgga	4	13	17	7	1	0	0	0	0	0	0	1	3	1	3	2	5	2	3	2	5	0	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.575C>A	p.Pro192Gln	p.P192Q	ENST00000305768	5/19	113	96	17	136	135	1	strelka-varscan-mutect	CEP89,missense_variant,p.Pro192Gln,ENST00000305768,NM_032816.4;CEP89,missense_variant,p.Pro192Gln,ENST00000590597,;CEP89,missense_variant,p.Pro164Gln,ENST00000593276,;CEP89,missense_variant,p.Pro192Gln,ENST00000586984,;CEP89,missense_variant,p.Pro108Gln,ENST00000591698,;	T	ENST00000305768	Transcript	missense_variant	664/5678	575/2352	192/783	P/Q	cCa/cAa		1		-1	CEP89	HGNC	HGNC:25907	protein_coding	YES	CCDS32987.1	ENSP00000306105	Q96ST8		UPI000020202C	NM_032816.4	tolerated(0.09)		5/19		hmmpanther:PTHR36170																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	32948286	32948286	G	T	1	0	0	0	0	1	0	0	0	2987	1348	47	2		2	CEP89	19	32948286	Missense_Mutation	SNP	G	C3N-02149_TP	11639040	32948286	25669330	493	30425											
GPATCH1	0	.	GRCh38	chr19	33081221	33081221	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcgggacagtgacagcgaaGaagatctggtcagctatggg	11	6	16	8	3	2	3	1	1	1	2	2	5	2	4	0	3	2	1	0	3	3	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.28G>C	p.Glu10Gln	p.E10Q	ENST00000170564	1/20	335	307	28	396	396	0	strelka-varscan-mutect	GPATCH1,missense_variant,p.Glu10Gln,ENST00000170564,NM_018025.2;GPATCH1,missense_variant,p.Glu10Gln,ENST00000592165,;	C	ENST00000170564	Transcript	missense_variant	342/3492	28/2796	10/931	E/Q	Gaa/Caa		1		1	GPATCH1	HGNC	HGNC:24658	protein_coding	YES	CCDS12428.1	ENSP00000170564	Q9BRR8		UPI000004EC71	NM_018025.2	deleterious(0.01)		1/20		hmmpanther:PTHR13384:SF19,hmmpanther:PTHR13384																	MODERATE	1	SNV	1			1										PASS		rs1175557455	.												C	3	2	92	33081221	33081221	G	C	1	0	0	0	0	1	0	0	0	6489	943	33	4		4	GPATCH1	19	33081221	Missense_Mutation	SNP	G	C3N-02149_TP	132935	33081221	25536395	494	30426											
ZNF181	0	.	GRCh38	chr19	34742056	34742056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctttagactatatgaatCactatacatgtgagaaatct	15	13	6	7	0	2	3	1	2	1	2	2	4	2	3	1	0	2	0	1	0	7	6	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1675C>T	p.His559Tyr	p.H559Y	ENST00000492450	4/4	84	69	15	94	94	0	strelka-varscan-mutect	ZNF181,missense_variant,p.His559Tyr,ENST00000492450,NM_001029997.3;ZNF181,missense_variant,p.His603Tyr,ENST00000392232,;ZNF181,missense_variant,p.His558Tyr,ENST00000459757,NM_001145665.1;ZNF181,downstream_gene_variant,,ENST00000595708,;ZNF181,downstream_gene_variant,,ENST00000599244,;ZNF181,downstream_gene_variant,,ENST00000593781,;ZNF181,non_coding_transcript_exon_variant,,ENST00000448715,;	T	ENST00000492450	Transcript	missense_variant	1764/5086	1675/1716	559/571	H/Y	Cac/Tac		1		1	ZNF181	HGNC	HGNC:12971	protein_coding	YES	CCDS32990.2	ENSP00000420727	Q2M3W8		UPI000020207A	NM_001029997.3	deleterious(0.04)		4/4																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	34742056	34742056	C	T	1	0	0	0	0	1	0	0	0	18329	826	29	3		3	ZNF181	19	34742056	Missense_Mutation	SNP	C	C3N-02149_TP	1660835	34742056	23875560	495	30427											
WDR62	0	.	GRCh38	chr19	36103185	36103185	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagggaaggctgaagagacCctggaggcctggcgcccacc	9	3	16	13	1	0	2	0	1	0	1	0	5	0	4	4	5	0	2	4	5	2	0	rs201443416		C3N-02149_TP	C3N-02149_NB	C	C																c.3492C>A	p.=	p.T1164T	ENST00000401500	29/32	629	589	40	713	712	1	strelka-varscan-mutect	WDR62,synonymous_variant,p.=,ENST00000401500,NM_001083961.1;WDR62,synonymous_variant,p.=,ENST00000270301,NM_173636.4;WDR62,3_prime_UTR_variant,,ENST00000587391,;	A	ENST00000401500	Transcript	synonymous_variant	3527/4682	3492/4572	1164/1523	T	acC/acA	rs201443416	1		1	WDR62	HGNC	HGNC:24502	protein_coding	YES	CCDS46059.1	ENSP00000384792	O43379		UPI000022A7E9	NM_001083961.1			29/32																			LOW	1	SNV	1			1										PASS		rs201443416	.												A	2	1	92	36103185	36103185	C	A	1	0	0	0	0	0	0	0	1	17872	610	22	2		2	WDR62	19	36103185	Silent	SNP	C	C3N-02149_TP	1361129	36103185	22514431	496	30428											
ZNF567	0	.	GRCh38	chr19	36712456	36712456	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcacctggatcatgctcAgaagactctatatatggatg	12	10	10	9	0	3	2	2	0	1	2	3	4	3	4	1	2	2	3	1	2	4	3	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.80A>T	p.Gln27Leu	p.Q27L	ENST00000536254	4/6	246	222	24	341	341	0	strelka-varscan-mutect	ZNF567,missense_variant,p.Gln27Leu,ENST00000536254,NM_001322917.1,NM_001322918.1,NM_001322915.1,NM_001322916.1,NM_001322913.1,NM_001300979.1;ZNF567,missense_variant,p.Gln6Leu,ENST00000589264,;ZNF567,5_prime_UTR_variant,,ENST00000585696,;ZNF567,5_prime_UTR_variant,,ENST00000360729,NM_001322912.1,NM_001322911.1,NM_152603.3;ZNF567,5_prime_UTR_variant,,ENST00000588311,;ZNF850,downstream_gene_variant,,ENST00000589390,;ZNF567,non_coding_transcript_exon_variant,,ENST00000590392,;ZNF567,upstream_gene_variant,,ENST00000591308,;	T	ENST00000536254	Transcript	missense_variant	302/2825	80/1944	27/647	Q/L	cAg/cTg		1		1	ZNF567	HGNC	HGNC:28696	protein_coding	YES	CCDS74349.1	ENSP00000441838	Q8N184		UPI000022A7F5	NM_001322917.1,NM_001322918.1,NM_001322915.1,NM_001322916.1,NM_001322913.1,NM_001300979.1	deleterious(0)		4/6		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF25,SMART_domains:SM00349																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	92	36712456	36712456	A	T	1	0	0	0	0	1	0	0	0	18572	188	7	4		4	ZNF567	19	36712456	Missense_Mutation	SNP	A	C3N-02149_TP	609271	36712456	21905160	497	30429											
RYR1	0	.	GRCh38	chr19	38504877	38504877	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccacagtggatgctgaaGgcaactttgatccccggcct	9	8	12	12	1	0	2	0	2	0	0	1	3	1	3	4	4	2	2	4	4	2	1			C3N-02149_TP	C3N-02149_NB	G	G																c.8197G>T	p.Gly2733Cys	p.G2733C	ENST00000359596	51/106	635	577	58	773	772	1	strelka-varscan-mutect	RYR1,missense_variant,p.Gly2733Cys,ENST00000355481,NM_001042723.1;RYR1,missense_variant,p.Gly2733Cys,ENST00000359596,NM_000540.2;RYR1,missense_variant,p.Gly551Cys,ENST00000594335,;	T	ENST00000359596	Transcript	missense_variant	8197/15117	8197/15117	2733/5038	G/C	Ggc/Tgc	COSM4188727	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2	deleterious(0)		51/106		hmmpanther:PTHR13715:SF15,hmmpanther:PTHR13715											1						MODERATE	1	SNV	5		1	1										PASS		.	.												T	3	4	92	38504877	38504877	G	T	1	0	0	0	0	1	0	0	0	14028	1000	35	2		2	RYR1	19	38504877	Missense_Mutation	SNP	G	C3N-02149_TP	1792421	38504877	20112739	498	30430											
ACP7	0	.	GRCh38	chr19	39106990	39106990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttgctgtcttcccgaggcCctggagtgccgtgcgtgtga	3	12	14	12	3	1	1	0	1	1	0	2	3	2	2	3	2	3	1	3	2	0	2	rs559239375		C3N-02149_TP	C3N-02149_NB	C	C																c.1157C>A	p.Pro386His	p.P386H	ENST00000331256	12/13	246	221	25	321	320	1	strelka-varscan-mutect	ACP7,missense_variant,p.Pro386His,ENST00000331256,NM_001004318.2;ACP7,intron_variant,,ENST00000594229,;ACP7,intron_variant,,ENST00000601531,;ACP7,3_prime_UTR_variant,,ENST00000601575,;	A	ENST00000331256	Transcript	missense_variant	1431/2966	1157/1317	386/438	P/H	cCc/cAc	rs559239375	1		1	ACP7	HGNC	HGNC:33781	protein_coding	YES	CCDS33018.1	ENSP00000327557	Q6ZNF0		UPI000041AA68	NM_001004318.2	deleterious(0.01)		12/13		Gene3D:3.60.21.10,Pfam_domain:PF14008,hmmpanther:PTHR22953,hmmpanther:PTHR22953:SF9,Superfamily_domains:SSF56300																	MODERATE	1	SNV	2			1										PASS		rs559239375	.												A	3	1	92	39106990	39106990	C	A	1	0	0	0	0	1	0	0	0	208	623	22	2		2	ACP7	19	39106990	Missense_Mutation	SNP	C	C3N-02149_TP	602113	39106990	19510626	499	30431											
MAP3K10	0	.	GRCh38	chr19	40206030	40206030	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagatggacatcgtggaacgGgagctgcacctgctcatgtg	9	8	15	9	2	1	1	1	0	0	1	2	5	1	4	1	3	4	3	1	3	1	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1308G>T	p.=	p.R436R	ENST00000253055	5/10	187	169	18	183	183	0	strelka-mutect	MAP3K10,synonymous_variant,p.=,ENST00000253055,NM_002446.3;MAP3K10,downstream_gene_variant,,ENST00000593906,;MAP3K10,3_prime_UTR_variant,,ENST00000594951,;MAP3K10,non_coding_transcript_exon_variant,,ENST00000594569,;MAP3K10,intron_variant,,ENST00000597986,;MAP3K10,intron_variant,,ENST00000593502,;MAP3K10,upstream_gene_variant,,ENST00000594791,;MAP3K10,downstream_gene_variant,,ENST00000601702,;	T	ENST00000253055	Transcript	synonymous_variant	1596/3436	1308/2865	436/954	R	cgG/cgT		1		1	MAP3K10	HGNC	HGNC:6849	protein_coding	YES	CCDS12549.1	ENSP00000253055	Q02779		UPI000013CDAC	NM_002446.3			5/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF515,PIRSF_domain:PIRSF000556																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	40206030	40206030	G	T	1	0	0	0	0	0	0	0	1	9166	1219	43	2		2	MAP3K10	19	40206030	Silent	SNP	G	C3N-02149_TP	1099040	40206030	18411586	500	30432											
PSG6	0	.	GRCh38	chr19	42916413	42916413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagaagaacatccttcccctCggaaactttgggtggcttgg	9	11	11	10	1	0	2	0	0	0	2	3	3	2	3	3	4	2	1	3	4	4	4	rs200758573		C3N-02149_TP	C3N-02149_NB	C	C																c.139G>A	p.Glu47Lys	p.E47K	ENST00000292125	2/6	206	183	23	256	256	0	strelka-varscan-mutect	PSG6,missense_variant,p.Glu47Lys,ENST00000187910,NM_001031850.3;PSG6,missense_variant,p.Glu47Lys,ENST00000402603,;PSG6,missense_variant,p.Glu47Lys,ENST00000292125,NM_002782.4;PSG6,5_prime_UTR_variant,,ENST00000601833,;PSG7,intron_variant,,ENST00000617049,;PSG6,intron_variant,,ENST00000594375,;PSG6,non_coding_transcript_exon_variant,,ENST00000402456,;PSG6,intron_variant,,ENST00000484292,;PSG6,upstream_gene_variant,,ENST00000595062,;	T	ENST00000292125	Transcript	missense_variant	184/1391	139/1308	47/435	E/K	Gag/Aag	rs200758573,COSM3288481,COSM3288482,COSM349603	1		-1	PSG6	HGNC	HGNC:9523	protein_coding	YES	CCDS12613.1	ENSP00000292125	Q00889		UPI00001327A1	NM_002782.4	deleterious(0.05)		2/6		Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1,1,1						MODERATE	1	SNV	1		0,1,1,1	1										PASS		rs200758573	.												T	3	4	92	42916413	42916413	C	T	1	0	0	0	0	1	0	0	0	12810	893	31	1		1	PSG6	19	42916413	Missense_Mutation	SNP	C	C3N-02149_TP	2710383	42916413	15701203	501	30433											
PSG2	0	.	GRCh38	chr19	43075585	43075585	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcacagtttccatggcctCcctggggtttaagttgctgc	6	13	11	11	0	1	0	1	0	0	0	3	1	3	0	3	3	2	4	3	3	1	4			C3N-02149_TP	C3N-02149_NB	C	C																c.478G>T	p.Glu160Ter	p.E160*	ENST00000406487	3/6	153	119	34	209	209	0	strelka-varscan-mutect	PSG2,stop_gained,p.Glu160Ter,ENST00000406487,NM_031246.3;PSG2,upstream_gene_variant,,ENST00000329509,;CTC-490G23.6,intron_variant,,ENST00000635495,;PSG2,intron_variant,,ENST00000593482,;	A	ENST00000406487	Transcript	stop_gained	577/1538	478/1008	160/335	E/*	Gag/Tag	COSM3288581	1		-1	PSG2	HGNC	HGNC:9519	protein_coding	YES	CCDS12616.1	ENSP00000385706	P11465	A0A024R0M4	UPI000013CCF5	NM_031246.3			3/6		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF615,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726											1						HIGH	1	SNV	1		1	1										PASS		.	.												A	4	1	92	43075585	43075585	C	A	1	0	0	0	0	0	1	0	0	12806	864	30	2		2	PSG2	19	43075585	Nonsense_Mutation	SNP	C	C3N-02149_TP	159172	43075585	15542031	502	30434											
SULT2A1	0	.	GRCh38	chr19	47883701	47883701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctctacccagggtgatCgctcccagatgggcacagat	9	8	10	14	1	1	3	0	1	1	2	4	3	2	3	2	2	1	2	2	2	1	1	rs763687131		C3N-02149_TP	C3N-02149_NB	C	C																c.221G>T	p.Arg74Leu	p.R74L	ENST00000222002	2/6	313	294	19	362	361	1	strelka-varscan-mutect	SULT2A1,missense_variant,p.Arg74Leu,ENST00000222002,NM_003167.3;	A	ENST00000222002	Transcript	missense_variant	361/1987	221/858	74/285	R/L	cGa/cTa	rs763687131,COSM3536394	1		-1	SULT2A1	HGNC	HGNC:11458	protein_coding	YES	CCDS12707.1	ENSP00000222002	Q06520	A8K015	UPI000013C7E8	NM_003167.3	deleterious(0.01)		2/6		hmmpanther:PTHR11783:SF8,hmmpanther:PTHR11783,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs763687131	.												A	3	1	92	47883701	47883701	C	A	1	0	0	0	0	1	0	0	0	15767	884	31	1		1	SULT2A1	19	47883701	Missense_Mutation	SNP	C	C3N-02149_TP	4808116	47883701	10733915	503	30435											
SCAF1	0	.	GRCh38	chr19	49651993	49651993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccaaggaggccgcctcgtCctcgtcgggcacccagccag	6	4	14	17	4	0	0	0	0	0	0	4	1	1	1	6	4	1	1	6	4	1	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1604C>T	p.Ser535Phe	p.S535F	ENST00000360565	7/11	41	36	5	107	107	0	strelka-mutect	SCAF1,missense_variant,p.Ser535Phe,ENST00000360565,NM_021228.2;SCAF1,downstream_gene_variant,,ENST00000598359,;	T	ENST00000360565	Transcript	missense_variant	1728/4306	1604/3939	535/1312	S/F	tCc/tTc		1		1	SCAF1	HGNC	HGNC:30403	protein_coding	YES	CCDS33074.1	ENSP00000353769	Q9H7N4		UPI0000071891	NM_021228.2	deleterious_low_confidence(0.03)		7/11		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	92	49651993	49651993	C	T	1	0	0	0	0	1	0	0	0	14132	855	30	3		3	SCAF1	19	49651993	Missense_Mutation	SNP	C	C3N-02149_TP	1768292	49651993	8965623	504	30436											
ACPT	0	.	GRCh38	chr19	50793909	50793909	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcctgctgaatgctatccTtgcaaacttctcccgggtcc	7	12	8	14	1	1	1	0	1	1	0	5	2	4	1	4	1	4	3	4	1	3	3			C3N-02149_TP	C3N-02149_NB	T	T																c.800T>C	p.Leu267Pro	p.L267P	ENST00000270593	8/11	411	382	29	489	489	0	strelka-varscan-mutect	ACPT,missense_variant,p.Leu267Pro,ENST00000270593,NM_033068.2;C19orf48,downstream_gene_variant,,ENST00000598463,NM_001290149.1;C19orf48,downstream_gene_variant,,ENST00000345523,NM_001290152.1,NM_001290155.1,NM_199250.2,NM_001290151.1,NM_001290150.1;C19orf48,downstream_gene_variant,,ENST00000391812,NM_199249.2,NM_001290154.1,NM_001290153.1;C19orf48,downstream_gene_variant,,ENST00000596655,NM_032712.2;C19orf48,downstream_gene_variant,,ENST00000597493,;C19orf48,downstream_gene_variant,,ENST00000597705,;C19orf48,downstream_gene_variant,,ENST00000596287,;C19orf48,downstream_gene_variant,,ENST00000601267,;C19orf48,downstream_gene_variant,,ENST00000600373,;C19orf48,downstream_gene_variant,,ENST00000593287,;CTD-2568A17.1,upstream_gene_variant,,ENST00000636757,;CTD-2568A17.8,upstream_gene_variant,,ENST00000594114,;C19orf48,downstream_gene_variant,,ENST00000595794,;C19orf48,downstream_gene_variant,,ENST00000599004,;C19orf48,downstream_gene_variant,,ENST00000596554,;	C	ENST00000270593	Transcript	missense_variant	800/1347	800/1281	267/426	L/P	cTt/cCt	COSM221863	1		1	ACPT	HGNC	HGNC:14376	protein_coding	YES	CCDS12802.1	ENSP00000270593	Q9BZG2		UPI0000048D54	NM_033068.2	deleterious(0)		8/11		hmmpanther:PTHR11567,hmmpanther:PTHR11567:SF110,Gene3D:3.40.50.1240,Pfam_domain:PF00328,Superfamily_domains:SSF53254											1						MODERATE		SNV	2		1	1										PASS		.	.												C	3	2	92	50793909	50793909	T	C	1	0	0	0	0	1	0	0	0	210	1609	56	5		5	ACPT	19	50793909	Missense_Mutation	SNP	T	C3N-02149_TP	1141916	50793909	7823707	505	30437											
SIGLEC10	0	.	GRCh38	chr19	51416890	51416890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttaaacacacagatgaccGtcaccggctgcccgggctcc	10	6	10	15	3	1	2	1	1	0	1	2	2	2	2	4	2	2	3	4	2	2	1	rs139983112		C3N-02149_TP	C3N-02149_NB	G	G																c.482C>A	p.Thr161Lys	p.T161K	ENST00000339313	3/11	191	176	15	224	224	0	varscan-mutect	SIGLEC10,missense_variant,p.Thr161Lys,ENST00000353836,NM_001171157.1;SIGLEC10,missense_variant,p.Thr161Lys,ENST00000339313,NM_033130.4;SIGLEC10,missense_variant,p.Thr161Lys,ENST00000525998,;SIGLEC10,missense_variant,p.Thr128Lys,ENST00000530476,;SIGLEC10,intron_variant,,ENST00000441969,NM_001171159.1;SIGLEC10,intron_variant,,ENST00000442846,NM_001171161.1;SIGLEC10,intron_variant,,ENST00000439889,NM_001171156.1;SIGLEC10,intron_variant,,ENST00000436984,NM_001171158.1;SIGLEC10,intron_variant,,ENST00000529627,;CTD-2616J11.2,intron_variant,,ENST00000532688,;CTD-2616J11.2,downstream_gene_variant,,ENST00000526996,;CTD-2616J11.3,downstream_gene_variant,,ENST00000532473,;SIGLEC10,non_coding_transcript_exon_variant,,ENST00000357375,;SIGLEC10,downstream_gene_variant,,ENST00000524527,;	T	ENST00000339313	Transcript	missense_variant	599/2256	482/2094	161/697	T/K	aCg/aAg	rs139983112,COSM999998	1		-1	SIGLEC10	HGNC	HGNC:15620	protein_coding	YES	CCDS12832.1	ENSP00000345243	Q96LC7		UPI0000047E1A	NM_033130.4	tolerated(0.2)		3/11		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF68,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs139983112	.												T	3	4	92	51416890	51416890	G	T	1	0	0	0	0	1	0	0	0	14570	1145	40	1		1	SIGLEC10	19	51416890	Missense_Mutation	SNP	G	C3N-02149_TP	622981	51416890	7200726	506	30438											
SIGLEC12	0	.	GRCh38	chr19	51500142	51500142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatatcccatggtatatCggccccttccttgaaccagg	9	11	9	12	1	0	1	0	1	0	0	3	2	2	2	5	4	1	1	5	4	5	5	rs746468203		C3N-02149_TP	C3N-02149_NB	C	C																c.586G>T	p.Asp196Tyr	p.D196Y	ENST00000291707	2/8	529	484	45	556	555	1	strelka-varscan-mutect	SIGLEC12,missense_variant,p.Asp196Tyr,ENST00000291707,NM_053003.3;SIGLEC12,missense_variant,p.Asp78Tyr,ENST00000598614,NM_033329.2;SIGLEC12,intron_variant,,ENST00000596742,;CTD-3073N11.7,downstream_gene_variant,,ENST00000594712,;	A	ENST00000291707	Transcript	missense_variant	642/2121	586/1788	196/595	D/Y	Gat/Tat	rs746468203	1		-1	SIGLEC12	HGNC	HGNC:15482	protein_coding	YES	CCDS12833.1	ENSP00000291707	Q96PQ1		UPI0000135992	NM_053003.3	tolerated(0.07)		2/8		hmmpanther:PTHR12035:SF53,hmmpanther:PTHR12035,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs746468203	.												A	3	1	92	51500142	51500142	C	A	1	0	0	0	0	1	0	0	0	14572	884	31	1		1	SIGLEC12	19	51500142	Missense_Mutation	SNP	C	C3N-02149_TP	83252	51500142	7117474	507	30439											
SIGLEC6	0	.	GRCh38	chr19	51531316	51531316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagaggaggtggaatcggcCccgggtctcctcctgcactt	6	8	13	14	2	1	1	0	0	1	1	4	3	2	3	5	5	1	1	5	5	1	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.271G>C	p.Gly91Arg	p.G91R	ENST00000425629	2/8	177	165	12	205	205	0	strelka-varscan-mutect	SIGLEC6,missense_variant,p.Gly91Arg,ENST00000346477,NM_198845.4;SIGLEC6,missense_variant,p.Gly91Arg,ENST00000425629,NM_001245.5;SIGLEC6,missense_variant,p.Gly91Arg,ENST00000359982,NM_001177548.1;SIGLEC6,missense_variant,p.Gly91Arg,ENST00000343300,NM_198846.4;SIGLEC6,missense_variant,p.Gly55Arg,ENST00000436458,NM_001177547.1;SIGLEC6,missense_variant,p.Gly91Arg,ENST00000391797,NM_001177549.1;SIGLEC6,upstream_gene_variant,,ENST00000474054,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000496422,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000489837,;	G	ENST00000425629	Transcript	missense_variant	426/1852	271/1362	91/453	G/R	Ggc/Cgc		1		-1	SIGLEC6	HGNC	HGNC:10875	protein_coding	YES	CCDS12834.3	ENSP00000401502	O43699	A0A024R4K4	UPI0000223FFD	NM_001245.5	deleterious(0)		2/8		Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF52,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	2			1										PASS		rs1224957572	.												G	3	3	92	51531316	51531316	C	G	1	0	0	0	0	1	0	0	0	14576	623	22	4		4	SIGLEC6	19	51531316	Missense_Mutation	SNP	C	C3N-02149_TP	31174	51531316	7086300	508	30440											
ZNF528	0	.	GRCh38	chr19	52415333	52415333	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtcaaatcccaccttttaAataaatatagaaataatttt	17	15	3	6	0	1	1	1	0	0	1	2	1	2	1	2	0	0	0	2	0	9	8	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.481A>T	p.Asn161Tyr	p.N161Y	ENST00000360465	7/7	136	110	26	132	132	0	strelka-varscan-mutect	ZNF528,missense_variant,p.Asn161Tyr,ENST00000360465,NM_032423.2;ZNF528,3_prime_UTR_variant,,ENST00000391788,;ZNF528,3_prime_UTR_variant,,ENST00000448954,;ZNF528,non_coding_transcript_exon_variant,,ENST00000598479,;ZNF528,non_coding_transcript_exon_variant,,ENST00000479718,;	T	ENST00000360465	Transcript	missense_variant	907/3978	481/1887	161/628	N/Y	Aat/Tat		1		1	ZNF528	HGNC	HGNC:29384	protein_coding	YES	CCDS33091.1	ENSP00000353652	Q3MIS6		UPI00001B6535	NM_032423.2	deleterious(0.01)		7/7																			MODERATE	1	SNV	1			1										PASS		rs1165582978	.												T	3	4	92	52415333	52415333	A	T	1	0	0	0	0	1	0	0	0	18542	14	1	4		4	ZNF528	19	52415333	Missense_Mutation	SNP	A	C3N-02149_TP	884017	52415333	6202283	509	30441											
ZNF415	0	.	GRCh38	chr19	53109566	53109566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcaacatggttacattcaTaaattttcccttcagcttga	11	16	4	10	0	3	1	3	1	1	0	5	1	4	1	1	1	3	2	1	1	4	7	rs747957157		C3N-02149_TP	C3N-02149_NB	T	T																c.479A>G	p.Tyr160Cys	p.Y160C	ENST00000500065	4/4	190	177	13	253	253	0	strelka-varscan-mutect	ZNF415,missense_variant,p.Tyr160Cys,ENST00000500065,NM_001136038.2;ZNF415,missense_variant,p.Tyr160Cys,ENST00000421033,NM_001164309.1;ZNF415,missense_variant,p.Tyr160Cys,ENST00000243643,NM_018355.3;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF415,5_prime_UTR_variant,,ENST00000601493,;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,downstream_gene_variant,,ENST00000601110,;ZNF415,downstream_gene_variant,,ENST00000595813,;ZNF415,downstream_gene_variant,,ENST00000601215,;ZNF415,downstream_gene_variant,,ENST00000595174,;ZNF415,downstream_gene_variant,,ENST00000595359,;ZNF415,downstream_gene_variant,,ENST00000602024,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;	C	ENST00000500065	Transcript	missense_variant	813/2496	479/1668	160/555	Y/C	tAt/tGt	rs747957157,COSM192889,COSM5118648	1		-1	ZNF415	HGNC	HGNC:20636	protein_coding	YES	CCDS54313.1	ENSP00000439435	Q09FC8		UPI0000E04BC1	NM_001136038.2	tolerated(0.16)		4/4		hmmpanther:PTHR24377:SF145,hmmpanther:PTHR24377											0,1,1						MODERATE	1	SNV	4		0,1,1	1										PASS		rs747957157	.												C	3	2	92	53109566	53109566	T	C	1	0	0	0	0	1	0	0	0	18464	1406	49	5		5	ZNF415	19	53109566	Missense_Mutation	SNP	T	C3N-02149_TP	694233	53109566	5508050	510	30442											
VN1R2	0	.	GRCh38	chr19	53258443	53258443	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagcgcagcctggcattTggggccactaccagtctcct	7	10	10	14	1	2	0	1	0	1	0	3	0	2	0	4	3	3	2	4	3	2	3	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.68T>A	p.Leu23Ter	p.L23*	ENST00000341702	1/1	90	75	15	148	148	0	strelka-varscan-mutect	VN1R2,stop_gained,p.Leu23Ter,ENST00000341702,NM_173856.2;ZNF677,upstream_gene_variant,,ENST00000598513,NM_001317998.1,NM_182609.2;ZNF677,upstream_gene_variant,,ENST00000594681,;ZNF677,upstream_gene_variant,,ENST00000599012,;ZNF677,upstream_gene_variant,,ENST00000601828,;ZNF677,upstream_gene_variant,,ENST00000601413,;ZNF677,upstream_gene_variant,,ENST00000598806,;ZNF677,upstream_gene_variant,,ENST00000594517,;ZNF677,upstream_gene_variant,,ENST00000595293,;VN1R2,upstream_gene_variant,,ENST00000598458,;	A	ENST00000341702	Transcript	stop_gained	152/1311	68/1188	23/395	L/*	tTg/tAg		1		1	VN1R2	HGNC	HGNC:19872	protein_coding	YES	CCDS12862.1	ENSP00000351244	Q8NFZ6		UPI0000062046	NM_173856.2			1/1		Transmembrane_helices:TMhelix																	HIGH		SNV				1										PASS		.	.												A	4	1	92	53258443	53258443	T	A	1	0	0	0	0	0	1	0	0	17727	1821	63	4		4	VN1R2	19	53258443	Nonsense_Mutation	SNP	T	C3N-02149_TP	148877	53258443	5359173	511	30443											
BIRC8	0	.	GRCh38	chr19	53290287	53290287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatcctcttgacctatagCataaaatccagctcttgcaa	12	14	4	11	0	2	1	0	1	2	0	4	1	4	1	3	0	3	3	3	0	6	7	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.88G>T	p.Ala30Ser	p.A30S	ENST00000426466	1/1	217	192	25	286	285	1	strelka-varscan-mutect	BIRC8,missense_variant,p.Ala30Ser,ENST00000426466,NM_033341.4;	A	ENST00000426466	Transcript	missense_variant	1340/2026	88/711	30/236	A/S	Gct/Tct		1		-1	BIRC8	HGNC	HGNC:14878	protein_coding	YES	CCDS12863.1	ENSP00000412957	Q96P09		UPI000003966A	NM_033341.4	tolerated(1)		1/1		Gene3D:1.10.1170.10,Pfam_domain:PF00653,PROSITE_patterns:PS01282,PROSITE_profiles:PS50143,hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF102,SMART_domains:SM00238,Superfamily_domains:SSF57924																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	92	53290287	53290287	C	A	1	0	0	0	0	1	0	0	0	1591	710	25	2		2	BIRC8	19	53290287	Missense_Mutation	SNP	C	C3N-02149_TP	31844	53290287	5327329	512	30444											
KIR3DL3	0	.	GRCh38	chr19	54726087	54726087	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcctctctgcctggccCggcactgtggtgtctgaagg	3	11	12	15	1	2	1	0	1	2	0	4	1	3	1	4	4	1	1	4	4	1	1			C3N-02149_TP	C3N-02149_NB	C	C																c.105C>A	p.=	p.P35P	ENST00000291860	3/8	125	111	14	142	142	0	strelka-varscan-mutect	KIR3DL3,synonymous_variant,p.=,ENST00000291860,NM_153443.4;CTB-61M7.1,intron_variant,,ENST00000400864,;	A	ENST00000291860	Transcript	synonymous_variant	123/1691	105/1233	35/410	P	ccC/ccA	COSM287973	1		1	KIR3DL3	HGNC	HGNC:16312	protein_coding	YES	CCDS12903.1	ENSP00000291860		A0A0B4J1R5	UPI00005056C3	NM_153443.4			3/8		hmmpanther:PTHR11738:SF91,hmmpanther:PTHR11738,Pfam_domain:PF00047,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726											1						LOW	1	SNV	1		1	1										PASS		rs1007367212	.												A	2	1	92	54726087	54726087	C	A	1	0	0	0	0	0	0	0	1	8186	639	23	1		1	KIR3DL3	19	54726087	Silent	SNP	C	C3N-02149_TP	1435800	54726087	3891529	513	30445											
GP6	0	.	GRCh38	chr19	55027747	55027747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggcgcagggtccccttcCttgtacagagcaaattggtc	8	10	12	11	1	0	1	0	0	0	1	3	1	2	1	3	3	2	3	3	3	3	5	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.441G>A	p.=	p.K147K	ENST00000310373	4/8	596	513	83	695	694	1	strelka-varscan-mutect	GP6,synonymous_variant,p.=,ENST00000310373,NM_001083899.2;GP6,synonymous_variant,p.=,ENST00000417454,NM_016363.5;GP6,synonymous_variant,p.=,ENST00000333884,NM_001256017.2;GP6,synonymous_variant,p.=,ENST00000468239,;CTC-550B14.7,intron_variant,,ENST00000593060,;CTC-550B14.7,intron_variant,,ENST00000586845,;CTC-550B14.7,intron_variant,,ENST00000586961,;CTC-550B14.6,non_coding_transcript_exon_variant,,ENST00000585492,;	T	ENST00000310373	Transcript	synonymous_variant	469/2268	441/1863	147/620	K	aaG/aaA		1		-1	GP6	HGNC	HGNC:14388	protein_coding	YES	CCDS42626.1	ENSP00000308782	Q9HCN6		UPI000013C631	NM_001083899.2			4/8		Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF104,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	92	55027747	55027747	C	T	1	0	0	0	0	0	0	0	1	6479	680	24	3		3	GP6	19	55027747	Silent	SNP	C	C3N-02149_TP	301660	55027747	3589869	514	30446											
U2AF2	0	.	GRCh38	chr19	55669482	55669482	+	Silent	SNP	G	G	T																															cctgtgaccctgcaagtgccGggcttgatgagctcccaggt																								novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1083G>T	p.=	p.P361P	ENST00000308924	11/12	67	54	13	79	79	0	strelka-varscan-mutect	U2AF2,synonymous_variant,p.=,ENST00000450554,NM_001012478.1;U2AF2,synonymous_variant,p.=,ENST00000308924,NM_007279.2;U2AF2,synonymous_variant,p.=,ENST00000590551,;CTD-2537I9.12,intron_variant,,ENST00000589456,;CTD-2537I9.12,intron_variant,,ENST00000585940,;CTD-2537I9.13,upstream_gene_variant,,ENST00000592252,;U2AF2,downstream_gene_variant,,ENST00000592874,;	T	ENST00000308924	Transcript	synonymous_variant	1123/1698	1083/1428	361/475	P	ccG/ccT		1		1	U2AF2	HGNC	HGNC:23156	protein_coding	YES	CCDS12933.1	ENSP00000307863	P26368		UPI0000137924	NM_007279.2			11/12		hmmpanther:PTHR23139,TIGRFAM_domain:TIGR01642																	LOW	1	SNV	1			1										PASS		rs1410952076	.												T	2	4	92	55669482	55669482	G	T	1	0	0	0	0	0	0	0	1	17340	1103	39	1		1	U2AF2	19	55669482	Silent	SNP	G	C3N-02149_TP	641735	55669482	2948134	515	30447	629	2									
U2AF2	0	.	GRCh38	chr19	55669483	55669483	+	Missense_Mutation	SNP	G	G	T																															ctgtgaccctgcaagtgccgGgcttgatgagctcccaggtg																								novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1084G>T	p.Gly362Cys	p.G362C	ENST00000308924	11/12	68	55	13	81	80	1	strelka-varscan-mutect	U2AF2,missense_variant,p.Gly358Cys,ENST00000450554,NM_001012478.1;U2AF2,missense_variant,p.Gly362Cys,ENST00000308924,NM_007279.2;U2AF2,missense_variant,p.Gly194Cys,ENST00000590551,;CTD-2537I9.12,intron_variant,,ENST00000589456,;CTD-2537I9.12,intron_variant,,ENST00000585940,;CTD-2537I9.13,upstream_gene_variant,,ENST00000592252,;U2AF2,downstream_gene_variant,,ENST00000592874,;	T	ENST00000308924	Transcript	missense_variant	1124/1698	1084/1428	362/475	G/C	Ggc/Tgc		1		1	U2AF2	HGNC	HGNC:23156	protein_coding	YES	CCDS12933.1	ENSP00000307863	P26368		UPI0000137924	NM_007279.2	deleterious(0)		11/12		hmmpanther:PTHR23139,TIGRFAM_domain:TIGR01642																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	55669483	55669483	G	T	1	0	0	0	0	1	0	0	0	17340	1232	43	2		2	U2AF2	19	55669483	Missense_Mutation	SNP	G	C3N-02149_TP	1	55669483	2948133	516	30448	629	2									
NLRP8	0	.	GRCh38	chr19	55952604	55952604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaggtgaatctggaggaagGagaatctggtatgtgcctgt	11	10	15	5	0	2	2	0	1	2	1	2	5	2	4	1	5	1	1	1	5	4	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.434G>T	p.Gly145Val	p.G145V	ENST00000291971	2/10	161	134	27	186	186	0	strelka-varscan-mutect	NLRP8,missense_variant,p.Gly145Val,ENST00000291971,NM_176811.2;NLRP8,missense_variant,p.Gly145Val,ENST00000590542,;	T	ENST00000291971	Transcript	missense_variant	505/3934	434/3147	145/1048	G/V	gGa/gTa		1		1	NLRP8	HGNC	HGNC:22940	protein_coding	YES	CCDS12937.1	ENSP00000291971	Q86W28		UPI00001BB3C9	NM_176811.2	tolerated(0.28)		2/10																			MODERATE	1	SNV	2			1										PASS		rs1286784227	.												T	3	4	92	55952604	55952604	G	T	1	0	0	0	0	1	0	0	0	10521	1174	41	2		2	NLRP8	19	55952604	Missense_Mutation	SNP	G	C3N-02149_TP	283121	55952604	2665012	517	30449											
ZNF667	0	.	GRCh38	chr19	56442180	56442180	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttccattgtgaattttcTtatgaagtaaaagggatgac	12	16	8	5	0	2	3	0	3	2	0	3	4	3	4	1	1	0	1	1	1	5	6	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.815A>C	p.Lys272Thr	p.K272T	ENST00000504904	7/7	124	117	7	174	174	0	strelka-varscan-mutect	ZNF667,missense_variant,p.Lys272Thr,ENST00000504904,NM_001321356.1;ZNF667,missense_variant,p.Lys272Thr,ENST00000292069,NM_022103.3;ZNF667,missense_variant,p.Lys54Thr,ENST00000629654,;ZNF667,3_prime_UTR_variant,,ENST00000591790,;ZNF667,downstream_gene_variant,,ENST00000587555,;ZNF667,3_prime_UTR_variant,,ENST00000592189,NM_001321355.1;	G	ENST00000504904	Transcript	missense_variant	1535/4390	815/1833	272/610	K/T	aAg/aCg		1		-1	ZNF667	HGNC	HGNC:28854	protein_coding	YES	CCDS12944.1	ENSP00000439402	Q5HYK9		UPI0000202CEE	NM_001321356.1	deleterious(0.02)		7/7		PROSITE_profiles:PS50157,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF46,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	92	56442180	56442180	T	G	1	0	0	0	0	1	0	0	0	18648	1609	56	5		5	ZNF667	19	56442180	Missense_Mutation	SNP	T	C3N-02149_TP	489576	56442180	2175436	518	30450											
ZIM3	0	.	GRCh38	chr19	57135065	57135065	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccggatgaaggtttttccAcattcactacatctataggt	10	15	7	9	1	2	1	1	1	1	0	4	2	4	2	2	3	1	1	2	3	4	7			C3N-02149_TP	C3N-02149_NB	A	A																c.1272T>C	p.=	p.C424C	ENST00000269834	5/5	398	373	25	566	566	0	strelka-varscan-mutect	ZIM3,synonymous_variant,p.=,ENST00000269834,NM_052882.1;USP29,downstream_gene_variant,,ENST00000254181,NM_020903.2;USP29,downstream_gene_variant,,ENST00000598197,;	G	ENST00000269834	Transcript	synonymous_variant	1658/2627	1272/1419	424/472	C	tgT/tgC	COSM3960598	1		-1	ZIM3	HGNC	HGNC:16366	protein_coding	YES	CCDS33125.1	ENSP00000269834	Q96PE6		UPI000013C3E0	NM_052882.1			5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF30,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667											1						LOW	1	SNV	1		1	1										PASS		.	.												G	2	3	92	57135065	57135065	A	G	1	0	0	0	0	0	0	0	1	18263	157	6	5		5	ZIM3	19	57135065	Silent	SNP	A	C3N-02149_TP	692885	57135065	1482551	519	30451											
ZNF264	0	.	GRCh38	chr19	57193930	57193930	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaggaggagtgggggcAgctggacctagctcagcgga	10	4	17	10	1	1	0	1	0	0	0	1	4	1	4	2	6	3	3	2	6	2	1	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.89A>T	p.Gln30Leu	p.Q30L	ENST00000263095	2/4	122	102	20	183	183	0	strelka-varscan-mutect	ZNF264,missense_variant,p.Gln30Leu,ENST00000263095,NM_003417.4;ZNF264,missense_variant,p.Gln30Leu,ENST00000536056,;ZNF264,missense_variant,p.Gln30Leu,ENST00000600531,;ZNF264,missense_variant,p.Gln30Leu,ENST00000599653,;ZNF264,missense_variant,p.Gln30Leu,ENST00000597447,;ZNF264,missense_variant,p.Gln30Leu,ENST00000594126,;	T	ENST00000263095	Transcript	missense_variant	503/12163	89/1884	30/627	Q/L	cAg/cTg		1		1	ZNF264	HGNC	HGNC:13057	protein_coding	YES	CCDS33127.1	ENSP00000263095	O43296		UPI000013C33B	NM_003417.4	deleterious(0.04)		2/4		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF192,SMART_domains:SM00349																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	92	57193930	57193930	A	T	1	0	0	0	0	1	0	0	0	18380	188	7	4		4	ZNF264	19	57193930	Missense_Mutation	SNP	A	C3N-02149_TP	58865	57193930	1423686	520	30452											
ZNF324B	0	.	GRCh38	chr19	58456293	58456293	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcctgcacacgggcgAgcggcccttccgctgcgtgg	4	6	14	17	5	0	0	0	0	0	0	2	1	2	0	4	3	4	3	4	3	0	1	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1349A>T	p.Glu450Val	p.E450V	ENST00000336614	4/4	290	253	37	300	300	0	strelka-varscan-mutect	ZNF324B,missense_variant,p.Glu450Val,ENST00000336614,NM_207395.2;ZNF324B,missense_variant,p.Glu450Val,ENST00000545523,;ZNF324B,downstream_gene_variant,,ENST00000598244,;ZNF324B,downstream_gene_variant,,ENST00000599193,;ZNF324B,downstream_gene_variant,,ENST00000594214,;ZNF324B,downstream_gene_variant,,ENST00000599194,;	T	ENST00000336614	Transcript	missense_variant	1456/2996	1349/1635	450/544	E/V	gAg/gTg		1		1	ZNF324B	HGNC	HGNC:33107	protein_coding	YES	CCDS33138.1	ENSP00000337473	Q6AW86		UPI000022AA2D	NM_207395.2	deleterious(0)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF159,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	58456293	58456293	A	T	1	0	0	0	0	1	0	0	0	18417	304	11	4		4	ZNF324B	19	58456293	Missense_Mutation	SNP	A	C3N-02149_TP	1262363	58456293	161323	521	30453											
TCF15	0	.	GRCh38	chr20	604594	604594	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccagggtccaggctcaTctccgtggccctcgaagggg	5	9	13	14	2	3	0	1	0	2	0	7	1	4	0	4	5	0	1	4	5	1	1	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.597A>G	p.=	p.R199R	ENST00000246080	2/2	336	249	87	356	356	0	strelka-varscan-mutect	TCF15,synonymous_variant,p.=,ENST00000246080,NM_004609.3;	C	ENST00000246080	Transcript	synonymous_variant	758/1555	597/600	199/199	R	agA/agG		1		-1	TCF15	HGNC	HGNC:11627	protein_coding	YES	CCDS33432.1	ENSP00000246080	Q12870		UPI000013CBD4	NM_004609.3			2/2																			LOW	1	SNV	1			1										PASS		.	.												C	2	2	92	604594	604594	T	C	1	0	0	0	0	0	0	0	1	16095	1432	50	5		5	TCF15	20	604594	Silent	SNP	T	C3N-02149_TP		604594	63839573	522	30454											
SIRPA	0	.	GRCh38	chr20	1921619	1921619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtggtgctgacccgcgagGacgttcactctcaagtcatc	8	9	12	12	3	3	1	3	1	1	0	5	3	3	2	1	3	1	2	1	3	1	1	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.661G>T	p.Asp221Tyr	p.D221Y	ENST00000400068	4/9	440	400	40	462	462	0	varscan-mutect	SIRPA,missense_variant,p.Asp221Tyr,ENST00000622179,;SIRPA,missense_variant,p.Asp221Tyr,ENST00000400068,NM_001040022.1;SIRPA,missense_variant,p.Asp221Tyr,ENST00000358771,NM_001040023.1;SIRPA,missense_variant,p.Asp221Tyr,ENST00000356025,NM_080792.2;	T	ENST00000400068	Transcript	missense_variant	1021/4201	661/1515	221/504	D/Y	Gac/Tac		1		1	SIRPA	HGNC	HGNC:9662	protein_coding	YES	CCDS13022.1	ENSP00000382941	P78324		UPI0000073ADE	NM_001040022.1	deleterious(0)		4/9		Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF12,SMART_domains:SM00407,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	1921619	1921619	G	T	1	0	0	0	0	1	0	0	0	14595	1174	41	2		2	SIRPA	20	1921619	Missense_Mutation	SNP	G	C3N-02149_TP	1317025	1921619	62522548	523	30455											
TGM6	0	.	GRCh38	chr20	2430540	2430540	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccatgtgccttgtcacCaaaggagagaagcttctggt	9	10	12	10	0	2	1	1	0	1	1	2	3	2	2	3	2	3	2	3	2	2	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1773C>A	p.=	p.T591T	ENST00000202625	11/13	429	378	51	517	517	0	strelka-varscan-mutect	TGM6,synonymous_variant,p.=,ENST00000202625,NM_198994.2;TGM6,synonymous_variant,p.=,ENST00000381423,NM_001254734.1;	A	ENST00000202625	Transcript	synonymous_variant	1834/2292	1773/2121	591/706	T	acC/acA		1		1	TGM6	HGNC	HGNC:16255	protein_coding	YES	CCDS13025.1	ENSP00000202625	O95932		UPI0000367011	NM_198994.2			11/13		hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF50,PIRSF_domain:PIRSF000459,Gene3D:2.60.40.10,Pfam_domain:PF00927,Superfamily_domains:SSF49309																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	2430540	2430540	C	A	1	0	0	0	0	0	0	0	1	16267	581	21	2		2	TGM6	20	2430540	Silent	SNP	C	C3N-02149_TP	508921	2430540	62013627	524	30456											
NOP56	0	.	GRCh38	chr20	2656864	2656864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagagataccacgaaagaAtctggatgtcatgaaggaag	16	7	13	5	1	2	3	1	1	1	2	2	8	2	6	1	3	1	0	1	3	5	1	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1250A>G	p.Asn417Ser	p.N417S	ENST00000329276	10/12	445	374	71	531	531	0	strelka-varscan-mutect	NOP56,missense_variant,p.Asn417Ser,ENST00000329276,NM_006392.3;NOP56,missense_variant,p.Asn158Ser,ENST00000415272,;IDH3B,downstream_gene_variant,,ENST00000380843,NM_006899.3;IDH3B,downstream_gene_variant,,ENST00000613370,NM_001258384.1;IDH3B,downstream_gene_variant,,ENST00000474315,;IDH3B,downstream_gene_variant,,ENST00000380851,NM_174855.2;NOP56,downstream_gene_variant,,ENST00000445139,;SNORA51,downstream_gene_variant,,ENST00000606420,;SNORD86,downstream_gene_variant,,ENST00000391196,;SNORD110,downstream_gene_variant,,ENST00000408189,;SNORD57,upstream_gene_variant,,ENST00000448188,;SNORD56,downstream_gene_variant,,ENST00000413522,;NOP56,downstream_gene_variant,,ENST00000408135,;NOP56,non_coding_transcript_exon_variant,,ENST00000492135,;NOP56,non_coding_transcript_exon_variant,,ENST00000466447,;NOP56,non_coding_transcript_exon_variant,,ENST00000462630,;NOP56,non_coding_transcript_exon_variant,,ENST00000480447,;NOP56,non_coding_transcript_exon_variant,,ENST00000490753,;NOP56,non_coding_transcript_exon_variant,,ENST00000471023,;NOP56,downstream_gene_variant,,ENST00000484998,;NOP56,downstream_gene_variant,,ENST00000469588,;NOP56,downstream_gene_variant,,ENST00000480992,;NOP56,downstream_gene_variant,,ENST00000494697,;NOP56,downstream_gene_variant,,ENST00000460258,;NOP56,upstream_gene_variant,,ENST00000467857,;NOP56,downstream_gene_variant,,ENST00000496775,;NOP56,downstream_gene_variant,,ENST00000470143,;NOP56,missense_variant,p.Asn191Ser,ENST00000467196,;NOP56,non_coding_transcript_exon_variant,,ENST00000612233,;NOP56,non_coding_transcript_exon_variant,,ENST00000616692,;IDH3B,downstream_gene_variant,,ENST00000488299,;IDH3B,downstream_gene_variant,,ENST00000492240,;IDH3B,downstream_gene_variant,,ENST00000462967,;IDH3B,downstream_gene_variant,,ENST00000491065,;IDH3B,downstream_gene_variant,,ENST00000466494,;IDH3B,downstream_gene_variant,,ENST00000477689,;IDH3B,downstream_gene_variant,,ENST00000466999,;IDH3B,downstream_gene_variant,,ENST00000479376,;	G	ENST00000329276	Transcript	missense_variant	1766/2400	1250/1785	417/594	N/S	aAt/aGt		1		1	NOP56	HGNC	HGNC:15911	protein_coding	YES	CCDS13030.1	ENSP00000370589	O00567		UPI000016A81D	NM_006392.3	deleterious(0)		10/12		hmmpanther:PTHR10894,hmmpanther:PTHR10894:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	2656864	2656864	A	G	1	0	0	0	0	1	0	0	0	10583	101	4	5		5	NOP56	20	2656864	Missense_Mutation	SNP	A	C3N-02149_TP	226324	2656864	61787303	525	30457											
CDS2	0	.	GRCh38	chr20	5173614	5173614	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccagtctctgcagatgAtaccccggaggtcctcaata	9	9	9	14	1	2	2	1	1	1	1	4	3	3	3	5	2	3	1	5	2	3	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.149A>T	p.Asp50Val	p.D50V	ENST00000460006	2/13	224	201	23	269	269	0	strelka-varscan-mutect	CDS2,missense_variant,p.Asp50Val,ENST00000460006,NM_003818.3;CDS2,intron_variant,,ENST00000450570,;CDS2,non_coding_transcript_exon_variant,,ENST00000468817,;CDS2,non_coding_transcript_exon_variant,,ENST00000486875,;CDS2,intron_variant,,ENST00000467923,;CDS2,upstream_gene_variant,,ENST00000379070,;	T	ENST00000460006	Transcript	missense_variant	456/9298	149/1338	50/445	D/V	gAt/gTt		1		1	CDS2	HGNC	HGNC:1801	protein_coding	YES	CCDS13088.1	ENSP00000419879	O95674		UPI0000001293	NM_003818.3	tolerated(0.24)		2/13		hmmpanther:PTHR13773,hmmpanther:PTHR13773:SF4,PIRSF_domain:PIRSF018269																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	5173614	5173614	A	T	1	0	0	0	0	1	0	0	0	2884	333	12	4		4	CDS2	20	5173614	Missense_Mutation	SNP	A	C3N-02149_TP	2516750	5173614	59270553	526	30458											
SEL1L2	0	.	GRCh38	chr20	13869502	13869502	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgtatttgtggcacttaCagtagtacatgaagcctaac	12	12	9	8	0	0	1	0	1	0	0	0	1	0	1	1	1	5	5	1	1	6	6	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1255+1G>T		p.X419_splice	ENST00000378072		223	181	42	259	259	0	strelka-varscan-mutect	SEL1L2,splice_donor_variant,,ENST00000284951,;SEL1L2,splice_donor_variant,,ENST00000378072,NM_001271539.1;SEL1L2,splice_donor_variant,,ENST00000486903,;SEL1L2,splice_donor_variant,,ENST00000492548,;SEL1L2,splice_donor_variant,,ENST00000423870,;SEL1L2,splice_donor_variant,,ENST00000475649,;	A	ENST00000378072	Transcript	splice_donor_variant	-/1892	1255/1728	419/575				1		-1	SEL1L2	HGNC	HGNC:15897	protein_coding	YES	CCDS59443.1	ENSP00000367312	Q5TEA6		UPI000003BCBF	NM_001271539.1				14/17																		HIGH	1	SNV	2			1										PASS		.	.												A	5	1	92	13869502	13869502	C	A	1	0	0	0	0	0	0	1	0	14288	492	17	2		2	SEL1L2	20	13869502	Splice_Site	SNP	C	C3N-02149_TP	8695888	13869502	50574665	527	30459											
KIF3B	0	.	GRCh38	chr20	32310284	32310284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcttgagctcaaagagagGcctgacacaggagtgtatgt	12	8	14	7	0	1	3	1	2	0	1	1	5	1	4	1	3	1	3	1	3	2	2	rs746925417		C3N-02149_TP	C3N-02149_NB	G	G																c.507G>T	p.Arg169Ser	p.R169S	ENST00000375712	2/9	182	153	29	192	191	1	strelka-varscan-mutect	KIF3B,missense_variant,p.Arg169Ser,ENST00000375712,NM_004798.3;	T	ENST00000375712	Transcript	missense_variant	674/6103	507/2244	169/747	R/S	agG/agT	rs746925417	1		1	KIF3B	HGNC	HGNC:6320	protein_coding	YES	CCDS13200.1	ENSP00000364864	O15066		UPI000012DDB1	NM_004798.3	tolerated(0.24)		2/9		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF476,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs746925417	.												T	3	4	92	32310284	32310284	G	T	1	0	0	0	0	1	0	0	0	8166	1194	42	2		2	KIF3B	20	32310284	Missense_Mutation	SNP	G	C3N-02149_TP	18440782	32310284	32133883	528	30460											
E2F1	0	.	GRCh38	chr20	33679839	33679839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatagatgcgccgcttcTgcaccttcagcacctcggca	7	10	9	15	3	3	1	2	0	1	1	4	1	3	1	3	1	3	4	3	1	1	3	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.488A>G	p.Gln163Arg	p.Q163R	ENST00000343380	3/7	521	413	108	586	585	1	strelka-varscan-mutect	E2F1,missense_variant,p.Gln163Arg,ENST00000343380,NM_005225.2;RP1-63M2.5,downstream_gene_variant,,ENST00000606866,;	C	ENST00000343380	Transcript	missense_variant	628/2503	488/1314	163/437	Q/R	cAg/cGg		1		-1	E2F1	HGNC	HGNC:3113	protein_coding	YES	CCDS13224.1	ENSP00000345571	Q01094		UPI000002EDEC	NM_005225.2	deleterious(0)		3/7		Gene3D:1.10.10.10,Pfam_domain:PF02319,hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF43,SMART_domains:SM01372,Superfamily_domains:SSF46785																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	33679839	33679839	T	C	1	0	0	0	0	1	0	0	0	4690	1580	55	5		5	E2F1	20	33679839	Missense_Mutation	SNP	T	C3N-02149_TP	1369555	33679839	30764328	529	30461											
MMP24	0	.	GRCh38	chr20	35269803	35269803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caataaccgagtgcaggaggGctaccccatgcagatcgagc	12	5	12	12	2	0	1	0	0	0	1	1	4	0	2	3	2	5	3	3	2	3	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1238G>T	p.Gly413Val	p.G413V	ENST00000246186	7/9	428	363	65	422	422	0	strelka-varscan-mutect	MMP24,missense_variant,p.Gly413Val,ENST00000246186,NM_006690.3;MMP24-AS1,intron_variant,,ENST00000635104,;MMP24-AS1,intron_variant,,ENST00000566203,;MMP24-AS1,intron_variant,,ENST00000438751,;MMP24-AS1,intron_variant,,ENST00000456350,;MMP24-AS1,intron_variant,,ENST00000433764,;MMP24-AS1,intron_variant,,ENST00000454184,;MMP24-AS1,intron_variant,,ENST00000453892,;MMP24-AS1,downstream_gene_variant,,ENST00000455178,;RP4-614O4.11,intron_variant,,ENST00000444717,;	T	ENST00000246186	Transcript	missense_variant	1323/4414	1238/1938	413/645	G/V	gGc/gTc		1		1	MMP24	HGNC	HGNC:7172	protein_coding	YES	CCDS46593.1	ENSP00000246186	Q9Y5R2		UPI000012F259	NM_006690.3	deleterious(0)		7/9		PROSITE_profiles:PS51642,hmmpanther:PTHR10201:SF138,hmmpanther:PTHR10201,Pfam_domain:PF00045,PIRSF_domain:PIRSF001191,Gene3D:2.110.10.10,SMART_domains:SM00120,Superfamily_domains:SSF50923																	MODERATE	1	SNV	1			1										PASS		rs1369380109	.												T	3	4	92	35269803	35269803	G	T	1	0	0	0	0	1	0	0	0	9624	1203	42	2		2	MMP24	20	35269803	Missense_Mutation	SNP	G	C3N-02149_TP	1589964	35269803	29174364	530	30462											
CEP250	0	.	GRCh38	chr20	35494568	35494568	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggcccaggatgactcccaGaggctggtggagcaggaggt	8	6	18	9	0	0	2	0	1	0	1	1	5	1	5	2	7	1	2	2	7	0	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.3078G>C	p.Gln1026His	p.Q1026H	ENST00000397527	24/35	312	296	16	278	278	0	strelka-varscan-mutect	CEP250,missense_variant,p.Gln1026His,ENST00000397527,NM_007186.4;RP3-477O4.14,upstream_gene_variant,,ENST00000453914,;RP3-477O4.14,upstream_gene_variant,,ENST00000416260,;RP3-477O4.14,upstream_gene_variant,,ENST00000444933,;CEP250,non_coding_transcript_exon_variant,,ENST00000487467,;CEP250,upstream_gene_variant,,ENST00000425525,;	C	ENST00000397527	Transcript	missense_variant	3798/15703	3078/7329	1026/2442	Q/H	caG/caC		1		1	CEP250	HGNC	HGNC:1859	protein_coding	YES	CCDS13255.1	ENSP00000380661	Q9BV73		UPI000006FE8F	NM_007186.4	tolerated(0.51)		24/35		hmmpanther:PTHR23159:SF1,hmmpanther:PTHR23159																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	92	35494568	35494568	G	C	1	0	0	0	0	1	0	0	0	2968	933	33	4		4	CEP250	20	35494568	Missense_Mutation	SNP	G	C3N-02149_TP	224765	35494568	28949599	531	30463											
CHD6	0	.	GRCh38	chr20	41413385	41413385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttagccagtcaagcagaCtcttgctgggaatggatttc	9	11	11	10	0	2	1	1	0	1	1	3	3	2	3	2	2	3	2	2	2	3	3	rs202167043		C3N-02149_TP	C3N-02149_NB	C	C																c.7070G>T	p.Ser2357Ile	p.S2357I	ENST00000373233	35/37	198	156	42	231	231	0	strelka-varscan-mutect	CHD6,missense_variant,p.Ser2357Ile,ENST00000373233,NM_032221.4;CHD6,non_coding_transcript_exon_variant,,ENST00000480022,;	A	ENST00000373233	Transcript	missense_variant	7248/10818	7070/8148	2357/2715	S/I	aGt/aTt	rs202167043	1		-1	CHD6	HGNC	HGNC:19057	protein_coding	YES	CCDS13317.1	ENSP00000362330	Q8TD26		UPI0000168656	NM_032221.4	deleterious(0)		35/37																			MODERATE	1	SNV	1			1										PASS		rs202167043	.												A	3	1	92	41413385	41413385	C	A	1	0	0	0	0	1	0	0	0	3088	565	20	2		2	CHD6	20	41413385	Missense_Mutation	SNP	C	C3N-02149_TP	5918817	41413385	23030782	532	30464											
HNF4A	0	.	GRCh38	chr20	44413749	44413749	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcaagctatgaggacagCagcctgccctccatcaatgc	11	7	10	13	0	2	1	2	1	0	0	3	2	3	2	3	2	5	2	3	2	3	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.441C>G	p.Ser147Arg	p.S147R	ENST00000316099	4/10	674	560	114	638	638	0	strelka-varscan-mutect	HNF4A,missense_variant,p.Ser147Arg,ENST00000316099,NM_001258355.1,NM_000457.4;HNF4A,missense_variant,p.Ser122Arg,ENST00000619550,NM_001287182.1,NM_001287183.1;HNF4A,missense_variant,p.Ser147Arg,ENST00000415691,NM_178849.2;HNF4A,missense_variant,p.Ser147Arg,ENST00000443598,NM_178850.2;HNF4A,missense_variant,p.Ser125Arg,ENST00000316673,NM_175914.4;HNF4A,missense_variant,p.Ser125Arg,ENST00000457232,NM_001030003.2;HNF4A,missense_variant,p.Ser125Arg,ENST00000609795,NM_001030004.2,NM_001287184.1;HNF4A,3_prime_UTR_variant,,ENST00000372920,;	G	ENST00000316099	Transcript	missense_variant	530/6445	441/1425	147/474	S/R	agC/agG		1		1	HNF4A	HGNC	HGNC:5024	protein_coding	YES	CCDS13330.1	ENSP00000312987	P41235	F1D8T1	UPI000016A0BA	NM_001258355.1,NM_000457.4	tolerated(0.21)		4/10		hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF41,Gene3D:1.10.565.10,Superfamily_domains:SSF48508																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	92	44413749	44413749	C	G	1	0	0	0	0	1	0	0	0	7144	709	25	4		4	HNF4A	20	44413749	Missense_Mutation	SNP	C	C3N-02149_TP	3000364	44413749	20030418	533	30465											
NCOA3	0	.	GRCh38	chr20	47635890	47635890	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaattttttttcaaattcaGgtgtgcactctcccatggca	10	16	6	9	0	3	0	2	0	1	0	4	0	3	0	1	2	1	2	1	2	3	6	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1505-1G>T		p.X502_splice	ENST00000371998		88	72	16	133	132	1	strelka-varscan	NCOA3,splice_acceptor_variant,,ENST00000372004,NM_006534.3;NCOA3,splice_acceptor_variant,,ENST00000371997,NM_001174088.1;NCOA3,splice_acceptor_variant,,ENST00000371998,NM_001174087.1,NM_181659.2;RP5-1049G16.4,upstream_gene_variant,,ENST00000448675,;	T	ENST00000371998	Transcript	splice_acceptor_variant	-/4668	1505/4275	502/1424				1		1	NCOA3	HGNC	HGNC:7670	protein_coding	YES	CCDS13407.1	ENSP00000361066	Q9Y6Q9		UPI000012FE45	NM_001174087.1,NM_181659.2				11/22																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	92	47635890	47635890	G	T	1	0	0	0	0	0	0	1	0	10249	1014	35	2		2	NCOA3	20	47635890	Splice_Site	SNP	G	C3N-02149_TP	3222141	47635890	16808277	534	30466											
KCNB1	0	.	GRCh38	chr20	49374382	49374382	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgcagcagagtcccccaAcaattttccccaggagagtc	12	7	8	14	0	0	2	0	0	0	2	3	3	2	2	4	1	3	2	4	1	3	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1178T>G	p.Val393Gly	p.V393G	ENST00000371741	2/2	187	174	13	219	219	0	strelka-varscan-mutect	KCNB1,missense_variant,p.Val393Gly,ENST00000371741,NM_004975.2;KCNB1,missense_variant,p.Val393Gly,ENST00000635465,;KCNB1,intron_variant,,ENST00000635878,;RP4-791K14.2,intron_variant,,ENST00000637341,;KCNB1,upstream_gene_variant,,ENST00000636838,;RP4-791K14.2,downstream_gene_variant,,ENST00000637091,;RP4-791K14.2,downstream_gene_variant,,ENST00000637575,;KCNB1,downstream_gene_variant,,ENST00000635210,;KCNB1,upstream_gene_variant,,ENST00000637131,;	C	ENST00000371741	Transcript	missense_variant	1374/11879	1178/2577	393/858	V/G	gTt/gGt		1		-1	KCNB1	HGNC	HGNC:6231	protein_coding	YES	CCDS13418.1	ENSP00000360806	Q14721		UPI000012DC80	NM_004975.2	deleterious(0)		2/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR11537:SF134,hmmpanther:PTHR11537,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR00169																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	49374382	49374382	A	C	1	0	0	0	0	1	0	0	0	7928	43	2	5		5	KCNB1	20	49374382	Missense_Mutation	SNP	A	C3N-02149_TP	1738492	49374382	15069785	535	30467											
CEBPB	0	.	GRCh38	chr20	50191067	50191067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcctgggacccagcatgtCtccccctgccgccgccgccg	3	6	12	20	4	1	0	0	0	1	0	2	1	1	1	8	2	2	1	8	2	0	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.34C>G	p.Leu12Val	p.L12V	ENST00000303004	1/1	252	238	14	272	272	0	strelka-mutect	CEBPB,missense_variant,p.Leu12Val,ENST00000303004,NM_001285879.1,NM_005194.3,NM_001285878.1;CEBPB-AS1,intron_variant,,ENST00000613921,;	G	ENST00000303004	Transcript	missense_variant	334/1956	34/1038	12/345	L/V	Ctc/Gtc		1		1	CEBPB	HGNC	HGNC:1834	protein_coding	YES	CCDS13429.1	ENSP00000305422	P17676		UPI000000D8BA	NM_001285879.1,NM_005194.3,NM_001285878.1	tolerated_low_confidence(0.44)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23334:SF21,hmmpanther:PTHR23334,PIRSF_domain:PIRSF005879,Prints_domain:PR01217																	MODERATE		SNV				1										PASS		.	.												G	3	3	92	50191067	50191067	C	G	1	0	0	0	0	1	0	0	0	2906	913	32	4		4	CEBPB	20	50191067	Missense_Mutation	SNP	C	C3N-02149_TP	816685	50191067	14253100	536	30468											
PCK1	0	.	GRCh38	chr20	57564208	57564208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagaaaatggctttttcgGtgtcgctcctgggacttcag	7	12	11	11	2	1	1	1	0	0	1	4	2	2	2	2	3	0	2	2	3	2	3	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.1001G>T	p.Gly334Val	p.G334V	ENST00000319441	7/10	212	162	50	205	205	0	strelka-varscan-mutect	PCK1,missense_variant,p.Gly334Val,ENST00000319441,NM_002591.3;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,non_coding_transcript_exon_variant,,ENST00000485958,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,downstream_gene_variant,,ENST00000498194,;PCK1,downstream_gene_variant,,ENST00000470051,;	T	ENST00000319441	Transcript	missense_variant	1165/4341	1001/1869	334/622	G/V	gGt/gTt		1		1	PCK1	HGNC	HGNC:8724	protein_coding	YES	CCDS13460.1	ENSP00000319814	P35558		UPI000013CB5A	NM_002591.3	deleterious(0)		7/10		HAMAP:MF_00452,hmmpanther:PTHR11561:SF1,hmmpanther:PTHR11561,Pfam_domain:PF00821,PIRSF_domain:PIRSF001348,Superfamily_domains:SSF53795																	MODERATE	1	SNV	1			1										PASS		rs893585457	.												T	3	4	92	57564208	57564208	G	T	1	0	0	0	0	1	0	0	0	11669	1261	44	2		2	PCK1	20	57564208	Missense_Mutation	SNP	G	C3N-02149_TP	7373141	57564208	6879959	537	30469											
GNAS	0	.	GRCh38	chr20	58909542	58909542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttgacgtgggtggccaGcgcgatgaacgccgcaagtg	8	8	16	9	5	0	2	0	2	0	0	0	3	0	2	2	2	2	2	2	2	2	1	rs137854533		C3N-02149_TP	C3N-02149_NB	G	G																c.2610G>T	p.Gln870His	p.Q870H	ENST00000371100	9/13	981	841	140	850	849	1	strelka-varscan-mutect	GNAS,missense_variant,p.Gln870His,ENST00000371100,NM_080425.2;GNAS,missense_variant,p.Gln856His,ENST00000371102,;GNAS,missense_variant,p.Gln228His,ENST00000354359,NM_001077488.2;GNAS,missense_variant,p.Gln227His,ENST00000371085,NM_000516.4;GNAS,missense_variant,p.Gln213His,ENST00000371095,NM_080426.2;GNAS,missense_variant,p.Gln212His,ENST00000265620,NM_001077489.2;GNAS,3_prime_UTR_variant,,ENST00000313949,;GNAS,3_prime_UTR_variant,,ENST00000371075,NM_016592.2;GNAS,intron_variant,,ENST00000306090,;GNAS,downstream_gene_variant,,ENST00000419558,;GNAS,downstream_gene_variant,,ENST00000604005,;GNAS,downstream_gene_variant,,ENST00000450130,;GNAS,downstream_gene_variant,,ENST00000349036,;GNAS,downstream_gene_variant,,ENST00000603546,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,non_coding_transcript_exon_variant,,ENST00000477931,;GNAS,non_coding_transcript_exon_variant,,ENST00000480975,;GNAS,non_coding_transcript_exon_variant,,ENST00000488652,;GNAS,non_coding_transcript_exon_variant,,ENST00000470512,;GNAS,non_coding_transcript_exon_variant,,ENST00000488546,;GNAS,non_coding_transcript_exon_variant,,ENST00000480232,;GNAS,non_coding_transcript_exon_variant,,ENST00000476935,;GNAS,non_coding_transcript_exon_variant,,ENST00000492907,;GNAS,non_coding_transcript_exon_variant,,ENST00000481039,;GNAS,non_coding_transcript_exon_variant,,ENST00000467321,;GNAS,non_coding_transcript_exon_variant,,ENST00000468895,;GNAS,non_coding_transcript_exon_variant,,ENST00000493958,;GNAS,intron_variant,,ENST00000494081,;GNAS,downstream_gene_variant,,ENST00000472183,;GNAS,downstream_gene_variant,,ENST00000485673,;GNAS,downstream_gene_variant,,ENST00000482112,;GNAS,downstream_gene_variant,,ENST00000469431,;GNAS,downstream_gene_variant,,ENST00000490374,;GNAS,downstream_gene_variant,,ENST00000464788,;GNAS,downstream_gene_variant,,ENST00000467227,;GNAS,downstream_gene_variant,,ENST00000478585,;GNAS,non_coding_transcript_exon_variant,,ENST00000496934,;GNAS,non_coding_transcript_exon_variant,,ENST00000476196,;GNAS,non_coding_transcript_exon_variant,,ENST00000487862,;GNAS,non_coding_transcript_exon_variant,,ENST00000487981,;GNAS,non_coding_transcript_exon_variant,,ENST00000479025,;GNAS,upstream_gene_variant,,ENST00000475610,;	T	ENST00000371100	Transcript	missense_variant	3162/4029	2610/3114	870/1037	Q/H	caG/caT	rs137854533,COSM27900,COSM3371733,COSM4168959,COSM4168960	1		1	GNAS	HGNC	HGNC:4392	protein_coding	YES	CCDS46622.1	ENSP00000360141	Q5JWF2		UPI0000E444AE	NM_080425.2	deleterious(0.01)		9/13		Gene3D:3.40.50.300,Pfam_domain:PF00503,Prints_domain:PR00318,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF36,SMART_domains:SM00275,Superfamily_domains:SSF52540										pathogenic	0,1,1,1,1						MODERATE	1	SNV	5		1,1,1,1,1	1										PASS		rs137854533	.												T	3	4	92	58909542	58909542	G	T	1	0	0	0	0	1	0	0	0	6390	962	34	2		2	GNAS	20	58909542	Missense_Mutation	SNP	G	C3N-02149_TP	1345334	58909542	5534625	538	30470											
TCP10L	0	.	GRCh38	chr21	32584231	32584231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtcttctccatgacagccCcagctcctgggcacgggtcc	5	9	10	17	1	2	1	0	1	2	0	5	1	4	1	5	2	2	2	5	2	0	1			C3N-02149_TP	C3N-02149_NB	C	C																c.74G>T	p.Gly25Val	p.G25V	ENST00000300258	2/5	118	95	23	188	187	1	strelka-varscan-mutect	TCP10L,missense_variant,p.Gly25Val,ENST00000300258,NM_144659.5;TCP10L,missense_variant,p.Gly25Val,ENST00000582575,;AP000275.65,intron_variant,,ENST00000553001,;AP000275.65,intron_variant,,ENST00000431216,;TCP10L,intron_variant,,ENST00000472557,;TCP10L,upstream_gene_variant,,ENST00000491828,;	A	ENST00000300258	Transcript	missense_variant	188/2695	74/648	25/215	G/V	gGg/gTg	COSM4557987	1		-1	TCP10L	HGNC	HGNC:11657	protein_coding	YES	CCDS13616.1	ENSP00000300258	Q8TDR4		UPI0000136B0B	NM_144659.5	deleterious(0.01)		2/5		hmmpanther:PTHR10331,hmmpanther:PTHR10331:SF24											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	92	32584231	32584231	C	A	1	0	0	0	0	1	0	0	0	16118	623	22	2		2	TCP10L	21	32584231	Missense_Mutation	SNP	C	C3N-02149_TP		32584231	14125752	539	30471											
IGSF5	0	.	GRCh38	chr21	39746294	39746294	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggcaaacagcagtggtGgacggtgagtgaaagctcag	11	7	17	6	1	1	2	1	2	0	0	1	3	1	3	0	5	3	3	0	5	2	0	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.96G>T	p.=	p.V32V	ENST00000380588	2/9	94	71	23	178	178	0	strelka-varscan-mutect	IGSF5,synonymous_variant,p.=,ENST00000380588,NM_001080444.1;IGSF5,upstream_gene_variant,,ENST00000479378,;	T	ENST00000380588	Transcript	synonymous_variant	199/2066	96/1224	32/407	V	gtG/gtT		1		1	IGSF5	HGNC	HGNC:5952	protein_coding	YES	CCDS33562.1	ENSP00000369962	Q9NSI5		UPI0000198970	NM_001080444.1			2/9		hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF9																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	92	39746294	39746294	G	T	1	0	0	0	0	0	0	0	1	7510	1362	47	2		2	IGSF5	21	39746294	Silent	SNP	G	C3N-02149_TP	7162063	39746294	6963689	540	30472											
ABCG1	0	.	GRCh38	chr21	42260046	42260046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggagggccccatcacctgGgggtggtcgctatcagtggc	6	7	17	11	1	2	0	2	0	0	0	3	1	2	1	3	6	0	1	3	6	1	1	rs535702283		C3N-02149_TP	C3N-02149_NB	G	G																c.631G>T	p.Gly211Trp	p.G211W	ENST00000398437	3/16	128	107	21	183	183	0	strelka-varscan-mutect	ABCG1,missense_variant,p.Gly211Trp,ENST00000398437,;ABCG1,intron_variant,,ENST00000398457,NM_207627.1,NM_207628.1;ABCG1,intron_variant,,ENST00000343687,NM_207174.1;ABCG1,intron_variant,,ENST00000361802,NM_004915.3;ABCG1,intron_variant,,ENST00000398449,NM_016818.2;ABCG1,intron_variant,,ENST00000347800,NM_207629.1;ABCG1,intron_variant,,ENST00000450121,;ABCG1,intron_variant,,ENST00000462050,;	T	ENST00000398437	Transcript	missense_variant	779/3475	631/2475	211/824	G/W	Ggg/Tgg	rs535702283	1		1	ABCG1	HGNC	HGNC:73	protein_coding			ENSP00000381464		E9PGV9	UPI000035AC75		deleterious_low_confidence(0)		3/16																			MODERATE		SNV	1			1										PASS		rs535702283	.												T	3	4	92	42260046	42260046	G	T	1	0	0	0	0	1	0	0	0	72	1232	43	2		2	ABCG1	21	42260046	Missense_Mutation	SNP	G	C3N-02149_TP	2513752	42260046	4449937	541	30473											
COL18A1	0	.	GRCh38	chr21	45480138	45480138	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcccccaggaccctcCttcagacacgacaagctggt	9	5	10	17	1	1	1	1	0	0	1	2	3	2	2	5	3	1	1	5	3	1	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2625C>A	p.=	p.S875S	ENST00000359759	10/41	359	295	64	408	408	0	strelka-varscan-mutect	COL18A1,synonymous_variant,p.=,ENST00000359759,NM_130444.2;COL18A1,synonymous_variant,p.=,ENST00000355480,NM_030582.3;COL18A1,synonymous_variant,p.=,ENST00000400337,NM_130445.3;MIR6815,downstream_gene_variant,,ENST00000611994,;	A	ENST00000359759	Transcript	synonymous_variant	2625/6586	2625/5265	875/1754	S	tcC/tcA		1		1	COL18A1	HGNC	HGNC:2195	protein_coding	YES	CCDS77643.1	ENSP00000352798	P39060		UPI0001838820	NM_130444.2			10/41		hmmpanther:PTHR24023																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	92	45480138	45480138	C	A	1	0	0	0	0	0	0	0	1	3463	668	24	2		2	COL18A1	21	45480138	Silent	SNP	C	C3N-02149_TP	3220092	45480138	1229845	542	30474											
DIP2A	0	.	GRCh38	chr21	46565761	46565761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtactacaccgtttacGgggaggaggcgcttcatgcc	7	8	14	12	4	1	0	1	0	0	0	1	2	1	2	3	5	4	3	3	5	3	5	rs374347392		C3N-02149_TP	C3N-02149_NB	G	G																c.4213G>T	p.Gly1405Trp	p.G1405W	ENST00000417564	36/38	191	148	43	291	291	0	strelka-varscan-mutect	DIP2A,missense_variant,p.Gly1401Trp,ENST00000400274,NM_001146116.1;DIP2A,missense_variant,p.Gly1405Trp,ENST00000417564,NM_015151.3;DIP2A,non_coding_transcript_exon_variant,,ENST00000479654,;DIP2A,non_coding_transcript_exon_variant,,ENST00000478105,;	T	ENST00000417564	Transcript	missense_variant	4234/6967	4213/4716	1405/1571	G/W	Ggg/Tgg	rs374347392	1		1	DIP2A	HGNC	HGNC:17217	protein_coding	YES	CCDS46655.1	ENSP00000392066	Q14689		UPI00001B2E47	NM_015151.3	deleterious(0)		36/38		Gene3D:2.30.38.10,Pfam_domain:PF00501,hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF24,Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1										PASS		rs374347392	.												T	3	4	92	46565761	46565761	G	T	1	0	0	0	0	1	0	0	0	4332	1116	39	1		1	DIP2A	21	46565761	Missense_Mutation	SNP	G	C3N-02149_TP	1085623	46565761	144222	543	30475											
KIAA1671	0	.	GRCh38	chr22	25038764	25038764	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgtttctttccagcaaaAggaggggcacagtttggatg	9	14	12	6	0	1	0	0	0	1	0	2	2	2	2	1	4	1	4	1	4	2	5	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1634A>T	p.Lys545Met	p.K545M	ENST00000358431	3/11	89	58	31	96	96	0	strelka-varscan-mutect	KIAA1671,missense_variant,p.Lys545Met,ENST00000358431,NM_001145206.1;KIAA1671,missense_variant,p.Lys545Met,ENST00000406486,;KIAA1671,upstream_gene_variant,,ENST00000494730,;KIAA1671,upstream_gene_variant,,ENST00000461374,;	T	ENST00000358431	Transcript	missense_variant	1660/10490	1634/5421	545/1806	K/M	aAg/aTg		1		1	KIAA1671	HGNC	HGNC:29345	protein_coding	YES	CCDS46676.1	ENSP00000351207	Q9BY89		UPI00002073DC	NM_001145206.1	deleterious(0.02)		3/11		hmmpanther:PTHR22042,hmmpanther:PTHR22042:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	25038764	25038764	A	T	1	0	0	0	0	1	0	0	0	8125	86	3	4		4	KIAA1671	22	25038764	Missense_Mutation	SNP	A	C3N-02149_TP		25038764	25779704	544	30476											
DEPDC5	0	.	GRCh38	chr22	31906401	31906401	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagtttgctgatcggctGctgaaggacttcacggactt	10	11	12	8	2	1	2	1	2	0	0	2	5	1	4	0	3	2	4	0	3	3	3			C3N-02149_TP	C3N-02149_NB	G	G																c.4716G>T	p.=	p.L1572L	ENST00000400246	43/43	404	376	28	459	459	0	strelka-varscan-mutect	DEPDC5,missense_variant,p.Cys1552Phe,ENST00000382111,;DEPDC5,synonymous_variant,p.=,ENST00000400246,NM_001242896.1;DEPDC5,synonymous_variant,p.=,ENST00000400249,;DEPDC5,synonymous_variant,p.=,ENST00000382112,NM_001136029.2;DEPDC5,synonymous_variant,p.=,ENST00000400248,NM_014662.4;DEPDC5,synonymous_variant,p.=,ENST00000535622,NM_001242897.1;DEPDC5,synonymous_variant,p.=,ENST00000433147,;DEPDC5,intron_variant,,ENST00000497340,;DEPDC5,3_prime_UTR_variant,,ENST00000448753,;	T	ENST00000400246	Transcript	synonymous_variant	4918/5551	4716/4812	1572/1603	L	ctG/ctT	COSM4883759,COSM4883760,COSM4883761	1		1	DEPDC5	HGNC	HGNC:18423	protein_coding	YES	CCDS74849.1	ENSP00000383105	O75140		UPI000192C426	NM_001242896.1			43/43		hmmpanther:PTHR13179											1,1,1						LOW	1	SNV	1		1,1,1	1										PASS		.	.												T	2	4	92	31906401	31906401	G	T	1	0	0	0	0	0	0	0	1	4248	1319	46	2		2	DEPDC5	22	31906401	Silent	SNP	G	C3N-02149_TP	6867637	31906401	18912067	545	30477											
SLC5A1	0	.	GRCh38	chr22	32104841	32104842	+	Frame_Shift_Ins	INS	-	-	T																															gaggagcgtattgacctggaINStgcggaagaggagaacatcc																								novel		C3N-02149_TP	C3N-02149_NB	-	-																c.1722dupT	p.Ala575CysfsTer11	p.A575Cfs*11	ENST00000266088	14/15	441	414	27	524	524	0	varindel-pindel	SLC5A1,frameshift_variant,p.Ala575CysfsTer11,ENST00000266088,NM_000343.3;SLC5A1,frameshift_variant,p.Ala448CysfsTer11,ENST00000543737,NM_001256314.1;SLC5A1,downstream_gene_variant,,ENST00000477969,;	T	ENST00000266088	Transcript	frameshift_variant	1971-1972/5061	1721-1722/1995	574/664	D/DX	gat/gaTt		1		1	SLC5A1	HGNC	HGNC:11036	protein_coding	YES	CCDS13902.1	ENSP00000266088	P13866		UPI00001359EA	NM_000343.3			14/15		hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF151																	HIGH	1	insertion	1	1		1										PASS		.	.												T	7	5	92	32104841	32104841	-	T	1	0	1	1	0	0	0	0	0	14944	333	12	0		0	SLC5A1	22	32104841	Frame_Shift_Ins	INS	-	C3N-02149_TP	198440	32104841	18713627	546	30478											
TOM1	0	.	GRCh38	chr22	35323137	35323137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgcccaagaacaaccCacccaccatcgtgcatgaca	13	5	5	18	1	0	2	0	1	0	1	2	2	1	2	5	0	4	1	5	0	3	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.326C>T	p.Pro109Leu	p.P109L	ENST00000411850	4/15	343	310	33	472	472	0	strelka-varscan-mutect	TOM1,missense_variant,p.Pro109Leu,ENST00000411850,NM_001135732.1;TOM1,missense_variant,p.Pro109Leu,ENST00000449058,NM_005488.2;TOM1,missense_variant,p.Pro76Leu,ENST00000447733,NM_001135729.1;TOM1,missense_variant,p.Pro109Leu,ENST00000425375,NM_001135730.1;TOM1,missense_variant,p.Pro109Leu,ENST00000382034,;TOM1,missense_variant,p.Pro103Leu,ENST00000456128,;TOM1,missense_variant,p.Pro76Leu,ENST00000443206,;TOM1,missense_variant,p.Pro76Leu,ENST00000608749,;TOM1,missense_variant,p.Pro76Leu,ENST00000608674,;TOM1,missense_variant,p.Pro109Leu,ENST00000395736,;TOM1,synonymous_variant,p.=,ENST00000449508,;TOM1,3_prime_UTR_variant,,ENST00000404284,;TOM1,3_prime_UTR_variant,,ENST00000424387,;TOM1,3_prime_UTR_variant,,ENST00000439512,;TOM1,upstream_gene_variant,,ENST00000491987,;TOM1,downstream_gene_variant,,ENST00000487670,;TOM1,downstream_gene_variant,,ENST00000465529,;TOM1,upstream_gene_variant,,ENST00000497448,;	T	ENST00000411850	Transcript	missense_variant	451/2390	326/1482	109/493	P/L	cCa/cTa		1		1	TOM1	HGNC	HGNC:11982	protein_coding	YES	CCDS46696.1	ENSP00000413697	O60784		UPI000000DB48	NM_001135732.1	deleterious(0)		4/15		PROSITE_profiles:PS50179,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF32,PIRSF_domain:PIRSF036948,Pfam_domain:PF00790,Gene3D:1.25.40.90,SMART_domains:SM00288,Superfamily_domains:SSF48464																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	35323137	35323137	C	T	1	0	0	0	0	1	0	0	0	16825	594	21	3		3	TOM1	22	35323137	Missense_Mutation	SNP	C	C3N-02149_TP	3218296	35323137	15495331	547	30479											
NFAM1	0	.	GRCh38	chr22	42432320	42432320	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccaggagggcgtgggaggCctggcagggcccgccacctc	5	3	18	15	2	0	0	0	0	0	0	1	2	0	2	5	6	0	1	5	6	0	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.38G>T	p.Gly13Val	p.G13V	ENST00000329021	1/6	161	149	12	191	191	0	strelka-varscan-mutect	NFAM1,missense_variant,p.Gly13Val,ENST00000329021,NM_145912.5;NFAM1,missense_variant,p.Gly13Val,ENST00000355469,;	A	ENST00000329021	Transcript	missense_variant	76/5602	38/813	13/270	G/V	gGc/gTc		1		-1	NFAM1	HGNC	HGNC:29872	protein_coding	YES	CCDS14034.1	ENSP00000333680	Q8NET5		UPI00000701BF	NM_145912.5	deleterious_low_confidence(0.02)		1/6		hmmpanther:PTHR35680,hmmpanther:PTHR35680:SF1,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	42432320	42432320	C	A	1	0	0	0	0	1	0	0	0	10395	739	26	2		2	NFAM1	22	42432320	Missense_Mutation	SNP	C	C3N-02149_TP	7109183	42432320	8386148	548	30480											
CSF2RA	0	.	GRCh38	chrX	1303969	1303969	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtacatttatgtgctcctAatcgtgggaacccttgtctg	7	15	10	9	1	1	0	0	0	1	0	3	1	2	1	2	1	3	2	2	1	4	5	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.1095A>T	p.=	p.L365L	ENST00000417535	12/14	490	456	34	642	641	1	strelka-varscan-mutect	CSF2RA,synonymous_variant,p.=,ENST00000381524,;CSF2RA,synonymous_variant,p.=,ENST00000417535,NM_001161530.1;CSF2RA,synonymous_variant,p.=,ENST00000432318,NM_001161529.1;CSF2RA,synonymous_variant,p.=,ENST00000381529,NM_006140.4,NM_172245.2;CSF2RA,synonymous_variant,p.=,ENST00000501036,NM_001161532.1;CSF2RA,synonymous_variant,p.=,ENST00000381509,NM_001161531.1;CSF2RA,intron_variant,,ENST00000355432,NM_172246.2;CSF2RA,intron_variant,,ENST00000355805,NM_172249.2;CSF2RA,intron_variant,,ENST00000381500,NM_172247.2;CSF2RA,intron_variant,,ENST00000494969,;RNA5SP498,upstream_gene_variant,,ENST00000411342,;CSF2RA,non_coding_transcript_exon_variant,,ENST00000498153,;CSF2RA,intron_variant,,ENST00000475259,;CSF2RA,downstream_gene_variant,,ENST00000493312,;CSF2RA,stop_lost,p.Ter286LeuextTer35,ENST00000486791,;	T	ENST00000417535	Transcript	synonymous_variant	1289/1955	1095/1305	365/434	L	ctA/ctT		1		1	CSF2RA	HGNC	HGNC:2435	protein_coding	YES	CCDS55359.1	ENSP00000394227	P15509		UPI000159C3E4	NM_001161530.1			12/14		Transmembrane_helices:TMhelix,hmmpanther:PTHR23036:SF94,hmmpanther:PTHR23036																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	92	1303969	1303969	A	T	1	0	0	0	0	0	0	0	1	3735	349	13	4		4	CSF2RA	23	1303969	Silent	SNP	A	C3N-02149_TP		1303969	154736926	549	30481											
NLGN4X	0	.	GRCh38	chrX	5893485	5893485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcaagttgtgcaaatgagGaacgagttccaaccagaaag	15	8	11	7	1	1	2	1	1	0	1	2	4	2	3	2	1	3	4	2	1	5	3			C3N-02149_TP	C3N-02149_NB	G	G																c.1783C>A	p.Pro595Thr	p.P595T	ENST00000381095	6/6	67	53	14	78	78	0	strelka-varscan-mutect	NLGN4X,missense_variant,p.Pro595Thr,ENST00000381095,NM_181332.2,NM_001282145.1;NLGN4X,missense_variant,p.Pro595Thr,ENST00000381093,NM_001282146.1;NLGN4X,missense_variant,p.Pro595Thr,ENST00000275857,NM_020742.3;NLGN4X,missense_variant,p.Pro595Thr,ENST00000381092,;NLGN4X,missense_variant,p.Pro596Thr,ENST00000538097,;NLGN4X,intron_variant,,ENST00000477079,;	T	ENST00000381095	Transcript	missense_variant	2411/5870	1783/2451	595/816	P/T	Cct/Act	COSM4862863,COSM757939	1		-1	NLGN4X	HGNC	HGNC:14287	protein_coding	YES	CCDS14126.1	ENSP00000370485	Q8N0W4	A0A024RBV0	UPI0000072EC5	NM_181332.2,NM_001282145.1	deleterious(0)		6/6		Gene3D:3.40.50.1820,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF260,Superfamily_domains:SSF53474											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	92	5893485	5893485	G	T	1	0	0	0	0	1	0	0	0	10501	1174	41	2		2	NLGN4X	23	5893485	Missense_Mutation	SNP	G	C3N-02149_TP	4589516	5893485	150147410	550	30482											
FRMPD4	0	.	GRCh38	chrX	12710526	12710526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacaagaaaaacacagcgaCccaggaaacaggtattctct	18	5	7	11	1	1	1	0	0	1	1	2	3	1	2	1	2	4	1	1	2	6	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1598C>A	p.Thr533Asn	p.T533N	ENST00000380682	14/17	69	43	26	82	82	0	strelka-varscan-mutect	FRMPD4,missense_variant,p.Thr533Asn,ENST00000380682,NM_014728.3;FRMPD4,missense_variant,p.Thr493Asn,ENST00000616992,;	A	ENST00000380682	Transcript	missense_variant	2104/8465	1598/3969	533/1322	T/N	aCc/aAc		1		1	FRMPD4	HGNC	HGNC:29007	protein_coding	YES	CCDS35201.1	ENSP00000370057	Q14CM0		UPI00001C2066	NM_014728.3	tolerated(0.69)		14/17																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	12710526	12710526	C	A	1	0	0	0	0	1	0	0	0	5930	507	18	2		2	FRMPD4	23	12710526	Missense_Mutation	SNP	C	C3N-02149_TP	6817041	12710526	143330369	551	30483											
PIGA	0	.	GRCh38	chrX	15325937	15325937	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatgcagctggtatctttcCcgaacttcttccaaaatgat	10	14	6	11	1	3	1	1	1	2	0	5	2	5	1	2	1	3	3	2	1	4	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.825G>T	p.=	p.R275R	ENST00000333590	3/6	67	49	18	73	72	1	strelka-varscan-mutect	PIGA,synonymous_variant,p.=,ENST00000333590,NM_002641.3;PIGA,synonymous_variant,p.=,ENST00000542278,;PIGA,synonymous_variant,p.=,ENST00000634582,NM_020473.3;PIGA,5_prime_UTR_variant,,ENST00000637296,;PIGA,5_prime_UTR_variant,,ENST00000634640,;PIGA,intron_variant,,ENST00000482148,;PIGA,upstream_gene_variant,,ENST00000475746,;PIGA,non_coding_transcript_exon_variant,,ENST00000635631,;PIGA,downstream_gene_variant,,ENST00000637799,;PIGA,3_prime_UTR_variant,,ENST00000637626,;PIGA,3_prime_UTR_variant,,ENST00000635598,;PIGA,3_prime_UTR_variant,,ENST00000638131,;PIGA,3_prime_UTR_variant,,ENST00000634286,;PIGA,non_coding_transcript_exon_variant,,ENST00000635045,;PIGA,non_coding_transcript_exon_variant,,ENST00000635480,;PIGA,non_coding_transcript_exon_variant,,ENST00000474662,;PIGA,downstream_gene_variant,,ENST00000634484,;PIGA,upstream_gene_variant,,ENST00000463173,;	A	ENST00000333590	Transcript	synonymous_variant	967/3652	825/1455	275/484	R	cgG/cgT		1		-1	PIGA	HGNC	HGNC:8957	protein_coding	YES	CCDS14165.1	ENSP00000369820	P37287		UPI0000131AAE	NM_002641.3			3/6		hmmpanther:PTHR12526:SF232,hmmpanther:PTHR12526,Pfam_domain:PF00534,Gene3D:3.40.50.2000,Superfamily_domains:SSF53756																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	15325937	15325937	C	A	1	0	0	0	0	0	0	0	1	11978	610	22	2		2	PIGA	23	15325937	Silent	SNP	C	C3N-02149_TP	2615411	15325937	140714958	552	30484											
CNKSR2	0	.	GRCh38	chrX	21609177	21609177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtttcgccaggaagtaactgGgagcagtgcagtgtctccca	9	9	13	10	1	1	0	0	0	1	0	3	2	1	2	2	2	3	4	2	2	2	2	novel		C3N-02149_TP	C3N-02149_NB	G	G																c.2252G>T	p.Gly751Val	p.G751V	ENST00000379510	20/22	128	82	46	153	153	0	strelka-varscan-mutect	CNKSR2,missense_variant,p.Gly721Val,ENST00000425654,NM_001168647.1;CNKSR2,missense_variant,p.Gly751Val,ENST00000379510,NM_014927.3;CNKSR2,missense_variant,p.Gly751Val,ENST00000279451,NM_001168648.1;CNKSR2,missense_variant,p.Gly702Val,ENST00000543067,NM_001168649.1;	T	ENST00000379510	Transcript	missense_variant	2288/5315	2252/3105	751/1034	G/V	gGg/gTg		1		1	CNKSR2	HGNC	HGNC:19701	protein_coding	YES	CCDS14198.1	ENSP00000368824	Q8WXI2		UPI0000070D72	NM_014927.3	deleterious(0.03)		20/22																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	21609177	21609177	G	T	1	0	0	0	0	1	0	0	0	3387	1232	43	2		2	CNKSR2	23	21609177	Missense_Mutation	SNP	G	C3N-02149_TP	6283240	21609177	134431718	553	30485											
ZNF645	0	.	GRCh38	chrX	22273348	22273348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtagtattgttcagcaGtgcaagagaacatacttgtc	12	13	10	6	0	1	1	1	0	0	1	2	2	1	1	0	0	4	5	0	0	5	6	rs760755951		C3N-02149_TP	C3N-02149_NB	G	G																c.357G>T	p.Gln119His	p.Q119H	ENST00000323684	1/1	168	119	49	224	224	0	strelka-varscan-mutect	ZNF645,missense_variant,p.Gln119His,ENST00000323684,NM_152577.3;PTCHD1-AS,intron_variant,,ENST00000608254,;	T	ENST00000323684	Transcript	missense_variant	406/1519	357/1278	119/425	Q/H	caG/caT	rs760755951	1		1	ZNF645	HGNC	HGNC:26371	protein_coding	YES	CCDS14205.1	ENSP00000323348	Q8N7E2		UPI0000073BD5	NM_152577.3	deleterious(0.01)		1/1		PROSITE_profiles:PS50157,hmmpanther:PTHR13480,hmmpanther:PTHR13480:SF1																	MODERATE	1	SNV				1										PASS		rs760755951	.												T	3	4	92	22273348	22273348	G	T	1	0	0	0	0	1	0	0	0	18634	1020	36	2		2	ZNF645	23	22273348	Missense_Mutation	SNP	G	C3N-02149_TP	664171	22273348	133767547	554	30486											
POLA1	0	.	GRCh38	chrX	24745498	24745498	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaatttaacatttgttttAcaacagtacaaagagttgct	15	14	7	5	0	0	1	0	0	0	1	0	2	0	2	0	1	5	4	0	1	6	7	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.2629A>T	p.Thr877Ser	p.T877S	ENST00000379059	24/37	113	97	16	159	159	0	strelka-varscan-mutect	POLA1,missense_variant,p.Thr883Ser,ENST00000379068,;POLA1,missense_variant,p.Thr877Ser,ENST00000379059,NM_016937.3;POLA1,missense_variant,p.Thr876Ser,ENST00000611764,;SCARNA23,downstream_gene_variant,,ENST00000516060,;POLA1,upstream_gene_variant,,ENST00000480125,;	T	ENST00000379059	Transcript	missense_variant	2644/5440	2629/4389	877/1462	T/S	Aca/Tca		1		1	POLA1	HGNC	HGNC:9173	protein_coding	YES	CCDS14214.1	ENSP00000368349	P09884		UPI000014D383	NM_016937.3	deleterious(0)		24/37		hmmpanther:PTHR10322:SF21,hmmpanther:PTHR10322,TIGRFAM_domain:TIGR00592,Pfam_domain:PF00136,SMART_domains:SM00486,Superfamily_domains:SSF56672																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	24745498	24745498	A	T	1	0	0	0	0	1	0	0	0	12297	391	14	4		4	POLA1	23	24745498	Missense_Mutation	SNP	A	C3N-02149_TP	2472150	24745498	131295397	555	30487											
MAGEB18	0	.	GRCh38	chrX	26139842	26139842	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaagatgaaagtcctggAgtttgtagccaagatacatg	14	10	11	6	0	0	3	0	1	0	2	1	4	1	4	2	1	3	3	2	1	6	4			C3N-02149_TP	C3N-02149_NB	A	A																c.857A>T	p.Glu286Val	p.E286V	ENST00000325250	2/3	148	136	12	173	171	2	strelka-varscan-mutect	MAGEB18,missense_variant,p.Glu286Val,ENST00000325250,NM_173699.3;	T	ENST00000325250	Transcript	missense_variant	1044/1811	857/1032	286/343	E/V	gAg/gTg	COSM150773	1		1	MAGEB18	HGNC	HGNC:28515	protein_coding	YES	CCDS14216.1	ENSP00000314543	Q96M61		UPI00001415E3	NM_173699.3	deleterious(0)		2/3		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF23,hmmpanther:PTHR11736											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	92	26139842	26139842	A	T	1	0	0	0	0	1	0	0	0	9091	304	11	4		4	MAGEB18	23	26139842	Missense_Mutation	SNP	A	C3N-02149_TP	1394344	26139842	129901053	556	30488											
OTC	0	.	GRCh38	chrX	38403721	38403721	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcgaaattcggaatgcaccTtcaggcagctactccaaagg	13	7	10	11	2	1	0	1	0	0	0	3	2	2	1	2	3	4	3	2	3	4	3	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.644T>A	p.Leu215His	p.L215H	ENST00000039007	6/10	347	238	109	349	349	0	strelka-varscan-mutect	OTC,missense_variant,p.Leu215His,ENST00000039007,NM_000531.5;RP5-972B16.2,intron_variant,,ENST00000465127,;OTC,downstream_gene_variant,,ENST00000488812,;	A	ENST00000039007	Transcript	missense_variant	796/1585	644/1065	215/354	L/H	cTt/cAt		1		1	OTC	HGNC	HGNC:8512	protein_coding	YES	CCDS14247.1	ENSP00000039007	P00480		UPI000013C550	NM_000531.5	deleterious(0)		6/10		Gene3D:3.40.50.1370,Pfam_domain:PF00185,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF1,Superfamily_domains:SSF53671,TIGRFAM_domain:TIGR00658																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	38403721	38403721	T	A	1	0	0	0	0	1	0	0	0	11367	1609	56	4		4	OTC	23	38403721	Missense_Mutation	SNP	T	C3N-02149_TP	12263879	38403721	117637174	557	30489											
ELK1	0	.	GRCh38	chrX	47641277	47641277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgagcttgtcgtaattCatgttggtcttgttcttgcg	4	17	12	8	3	3	1	1	1	2	0	4	1	3	1	0	2	2	5	0	2	1	7	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.165G>T	p.Met55Ile	p.M55I	ENST00000247161	2/6	164	100	64	208	208	0	strelka-varscan-mutect	ELK1,missense_variant,p.Met55Ile,ENST00000247161,NM_005229.4;ELK1,missense_variant,p.Met55Ile,ENST00000376983,NM_001114123.2;ELK1,missense_variant,p.Met55Ile,ENST00000343894,NM_001257168.1;	A	ENST00000247161	Transcript	missense_variant	265/2695	165/1287	55/428	M/I	atG/atT		1		-1	ELK1	HGNC	HGNC:3321	protein_coding	YES	CCDS14283.1	ENSP00000247161	P19419	A0A024R1A7	UPI0000129E66	NM_005229.4	deleterious(0.01)		2/6		PROSITE_profiles:PS50061,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF178,PROSITE_patterns:PS00346,Gene3D:1.10.10.10,Pfam_domain:PF00178,SMART_domains:SM00413,Superfamily_domains:SSF46785,Prints_domain:PR00454																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	47641277	47641277	C	A	1	0	0	0	0	1	0	0	0	4893	826	29	2		2	ELK1	23	47641277	Missense_Mutation	SNP	C	C3N-02149_TP	9237556	47641277	108399618	558	30490											
SSX3	0	.	GRCh38	chrX	48347509	48347509	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctcttacggagttactCatcatcttcctcaggatcgc	7	14	8	12	2	5	0	3	0	2	0	8	2	6	2	1	3	2	2	1	3	2	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.562G>T	p.Glu188Ter	p.E188*	ENST00000298396	7/8	149	93	56	202	202	0	strelka-varscan-mutect	SSX3,stop_gained,p.Glu188Ter,ENST00000298396,NM_021014.3;SSX3,downstream_gene_variant,,ENST00000612497,;SSX3,downstream_gene_variant,,ENST00000376893,;SSX3,non_coding_transcript_exon_variant,,ENST00000376895,;	A	ENST00000298396	Transcript	stop_gained	615/1232	562/567	188/188	E/*	Gag/Tag		1		-1	SSX3	HGNC	HGNC:11337	protein_coding	YES	CCDS14291.1	ENSP00000298396	Q99909		UPI000013E4CD	NM_021014.3			7/8		hmmpanther:PTHR14112:SF10,hmmpanther:PTHR14112																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	92	48347509	48347509	C	A	1	0	0	0	0	0	1	0	0	15584	835	29	2		2	SSX3	23	48347509	Nonsense_Mutation	SNP	C	C3N-02149_TP	706232	48347509	107693386	559	30491											
PIM2	0	.	GRCh38	chrX	48915273	48915273	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaggccgctcgaggacCagcatgaagccctcctgtgt	9	6	13	13	2	0	1	0	1	0	0	2	3	1	2	4	3	2	3	4	3	2	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.342G>T	p.=	p.L114L	ENST00000376509	4/6	159	101	58	203	203	0	strelka-varscan-mutect	PIM2,synonymous_variant,p.=,ENST00000376509,NM_006875.3;PIM2,synonymous_variant,p.=,ENST00000442430,;SLC35A2,upstream_gene_variant,,ENST00000376521,NM_001042498.2;SLC35A2,upstream_gene_variant,,ENST00000445167,NM_001032289.2;SLC35A2,upstream_gene_variant,,ENST00000247138,NM_005660.2;SLC35A2,upstream_gene_variant,,ENST00000616181,NM_001282650.1;SLC35A2,upstream_gene_variant,,ENST00000452555,NM_001282651.1;SLC35A2,upstream_gene_variant,,ENST00000635589,NM_001282649.1;SLC35A2,upstream_gene_variant,,ENST00000376515,NM_001282648.1;SLC35A2,upstream_gene_variant,,ENST00000635015,;SLC35A2,upstream_gene_variant,,ENST00000376512,;SLC35A2,upstream_gene_variant,,ENST00000446885,;SLC35A2,upstream_gene_variant,,ENST00000376529,NM_001282647.1;SLC35A2,upstream_gene_variant,,ENST00000635460,;SLC35A2,upstream_gene_variant,,ENST00000635238,;SLC35A2,upstream_gene_variant,,ENST00000634461,;SLC35A2,upstream_gene_variant,,ENST00000634665,;PIM2,upstream_gene_variant,,ENST00000485431,;SLC35A2,upstream_gene_variant,,ENST00000635628,;SLC35A2,upstream_gene_variant,,ENST00000635285,;	A	ENST00000376509	Transcript	synonymous_variant	532/2075	342/936	114/311	L	ctG/ctT		1		-1	PIM2	HGNC	HGNC:8987	protein_coding	YES	CCDS14312.1	ENSP00000365692	Q9P1W9	A0A024QYW7	UPI0000049044	NM_006875.3			4/6		PROSITE_profiles:PS50011,hmmpanther:PTHR22984:SF10,hmmpanther:PTHR22984,PIRSF_domain:PIRSF037993,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	48915273	48915273	C	A	1	0	0	0	0	0	0	0	1	12023	581	21	2		2	PIM2	23	48915273	Silent	SNP	C	C3N-02149_TP	567764	48915273	107125622	560	30492											
AKAP4	0	.	GRCh38	chrX	50192328	50192328	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagttgtccatccttatcTcccatgaagtagagcatggg	9	12	9	11	0	1	2	0	1	1	1	5	2	4	2	4	1	1	3	4	1	3	3	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.2385A>T	p.=	p.G795G	ENST00000358526	5/6	62	47	15	63	63	0	strelka-varscan-mutect	AKAP4,synonymous_variant,p.=,ENST00000358526,NM_003886.2;AKAP4,synonymous_variant,p.=,ENST00000376064,NM_139289.1;AKAP4,downstream_gene_variant,,ENST00000437370,;AKAP4,downstream_gene_variant,,ENST00000448865,;AKAP4,non_coding_transcript_exon_variant,,ENST00000481402,;AKAP4,downstream_gene_variant,,ENST00000480926,;	A	ENST00000358526	Transcript	synonymous_variant	2509/2881	2385/2565	795/854	G	ggA/ggT		1		-1	AKAP4	HGNC	HGNC:374	protein_coding	YES	CCDS14329.1	ENSP00000351327	Q5JQC9		UPI000013DA96	NM_003886.2			5/6		hmmpanther:PTHR10226:SF8,hmmpanther:PTHR10226,Pfam_domain:PF05716,SMART_domains:SM00807																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	92	50192328	50192328	T	A	1	0	0	0	0	0	0	0	1	537	1538	54	4		4	AKAP4	23	50192328	Silent	SNP	T	C3N-02149_TP	1277055	50192328	105848567	561	30493											
SMC1A	0	.	GRCh38	chrX	53394870	53394870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgaaccactcactgagtCctccccctgggagctaccct	7	9	8	17	0	1	2	1	2	0	0	3	3	3	3	5	1	3	1	5	1	2	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2881G>T	p.Asp961Tyr	p.D961Y	ENST00000322213	19/25	243	167	76	300	298	2	strelka-varscan-mutect	SMC1A,missense_variant,p.Asp939Tyr,ENST00000375340,NM_001281463.1;SMC1A,missense_variant,p.Asp961Tyr,ENST00000322213,NM_006306.3;SMC1A,missense_variant,p.Asp58Tyr,ENST00000470241,;	A	ENST00000322213	Transcript	missense_variant	3009/9784	2881/3702	961/1233	D/Y	Gac/Tac		1		-1	SMC1A	HGNC	HGNC:11111	protein_coding	YES	CCDS14352.1	ENSP00000323421	Q14683		UPI0000135A4D	NM_006306.3	deleterious(0.04)		19/25		Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	53394870	53394870	C	A	1	0	0	0	0	1	0	0	0	15074	855	30	2		2	SMC1A	23	53394870	Missense_Mutation	SNP	C	C3N-02149_TP	3202542	53394870	102646025	562	30494											
HUWE1	0	.	GRCh38	chrX	53565121	53565121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctccttgggcatcctgctCagacttgttcttgctagaag	6	13	11	11	0	2	2	1	0	1	2	4	2	4	2	2	2	2	5	2	2	2	5			C3N-02149_TP	C3N-02149_NB	C	C																c.6826G>A	p.Glu2276Lys	p.E2276K	ENST00000342160	49/83	168	111	57	218	218	0	strelka-varscan-mutect	HUWE1,missense_variant,p.Glu2276Lys,ENST00000342160,;HUWE1,missense_variant,p.Glu2276Lys,ENST00000262854,NM_031407.6;HUWE1,missense_variant,p.Glu2267Lys,ENST00000612484,;	T	ENST00000342160	Transcript	missense_variant	7284/14796	6826/13125	2276/4374	E/K	Gag/Aag	COSM3965372,COSM3965373	1		-1	HUWE1	HGNC	HGNC:30892	protein_coding	YES	CCDS35301.1	ENSP00000340648	Q7Z6Z7	A0A024R9W5	UPI00004A0DAC		tolerated(0.13)		49/83		Low_complexity_(Seg):seg											1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												T	3	4	92	53565121	53565121	C	T	1	0	0	0	0	1	0	0	0	7357	835	29	3		3	HUWE1	23	53565121	Missense_Mutation	SNP	C	C3N-02149_TP	170251	53565121	102475774	563	30495											
ACRC	0	.	GRCh38	chrX	71604160	71604160	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgatgattcggaagctTccgacgacagcagtgatgat	11	9	13	8	3	0	4	0	4	0	0	2	7	1	5	1	1	2	3	1	1	1	2	rs761086272		C3N-02149_TP	C3N-02149_NB	T	T																c.883T>C	p.Ser295Pro	p.S295P	ENST00000373695	7/12	216	203	13	229	227	2	varscan-mutect	ACRC,missense_variant,p.Ser295Pro,ENST00000373695,;ACRC,missense_variant,p.Ser295Pro,ENST00000373696,NM_052957.4;ACRC,upstream_gene_variant,,ENST00000471950,;	C	ENST00000373695	Transcript	missense_variant	1420/3213	883/2076	295/691	S/P	Tcc/Ccc	rs761086272	1		1	ACRC	HGNC	HGNC:15805	protein_coding	YES	CCDS35326.1	ENSP00000362799	Q96QF7		UPI0000072023				7/12		hmmpanther:PTHR23099,hmmpanther:PTHR23099:SF0,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs761086272	.												C	3	2	92	71604160	71604160	T	C	1	0	0	0	0	1	0	0	0	213	1783	62	5		5	ACRC	23	71604160	Missense_Mutation	SNP	T	C3N-02149_TP	18039039	71604160	84436735	564	30496											
PGAM4	0	.	GRCh38	chrX	77968898	77968898	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggccttgccctgggcAgccacagcttctatggcttt	4	14	10	13	0	2	0	0	0	2	0	2	0	2	0	3	3	3	3	3	3	1	6	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.741T>A	p.=	p.A247A	ENST00000458128	1/1	188	133	55	149	149	0	strelka-varscan-mutect	PGAM4,synonymous_variant,p.=,ENST00000458128,NM_001029891.2;ATP7A,intron_variant,,ENST00000341514,NM_000052.6;ATP7A,intron_variant,,ENST00000343533,NM_001282224.1;RP5-1000K24.2,downstream_gene_variant,,ENST00000602791,;	T	ENST00000458128	Transcript	synonymous_variant	741/765	741/765	247/254	A	gcT/gcA		1		-1	PGAM4	HGNC	HGNC:21731	protein_coding	YES	CCDS35338.1	ENSP00000412189	Q8N0Y7		UPI0000131CD2	NM_001029891.2			1/1		hmmpanther:PTHR11931:SF14,hmmpanther:PTHR11931,Gene3D:3.40.50.1240,TIGRFAM_domain:TIGR01258																	LOW		SNV				1										PASS		.	.												T	2	4	92	77968898	77968898	A	T	1	0	0	0	0	0	0	0	1	11865	175	7	4		4	PGAM4	23	77968898	Silent	SNP	A	C3N-02149_TP	6364738	77968898	78071997	565	30497											
TCEAL2	0	.	GRCh38	chrX	102127004	102127004	+	Frame_Shift_Del	DEL	A	A	-																															aagagagttgaggaaccgttAaaggataaagaaaagccaga																								novel		C3N-02149_TP	C3N-02149_NB	A	A																c.176delA	p.Lys59ArgfsTer102	p.K59Rfs*102	ENST00000372780	3/3	202	142	60	270	270	0	sindel-varindel-pindel	TCEAL2,frameshift_variant,p.Lys59ArgfsTer102,ENST00000372780,NM_080390.3;TCEAL2,frameshift_variant,p.Lys59ArgfsTer102,ENST00000329035,;TCEAL2,downstream_gene_variant,,ENST00000476749,;	-	ENST00000372780	Transcript	frameshift_variant	393/1100	174/684	58/227	L/X	ttA/tt		1		1	TCEAL2	HGNC	HGNC:29818	protein_coding	YES	CCDS14496.1	ENSP00000361866	Q9H3H9		UPI00000709E1	NM_080390.3			3/3		hmmpanther:PTHR14754,hmmpanther:PTHR14754:SF15,Pfam_domain:PF04538																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	92	102127004	102127004	A	-	1	0	1	0	1	0	0	0	0	16078	359	13	0		0	TCEAL2	23	102127004	Frame_Shift_Del	DEL	A	C3N-02149_TP	24158106	102127004	53913891	566	30498											
ESX1	0	.	GRCh38	chrX	104254538	104254538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtattctcctcgtcctctCctccccttgccatcagcgag	4	13	7	17	2	3	0	1	0	2	0	8	1	5	0	6	0	2	1	6	0	1	3	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.122G>T	p.Gly41Val	p.G41V	ENST00000372588	2/4	116	81	35	137	137	0	strelka-varscan-mutect	ESX1,missense_variant,p.Gly41Val,ENST00000372588,NM_153448.3;	A	ENST00000372588	Transcript	missense_variant	206/1495	122/1221	41/406	G/V	gGa/gTa		1		-1	ESX1	HGNC	HGNC:14865	protein_coding	YES	CCDS14516.1	ENSP00000361669	Q8N693		UPI0000073D09	NM_153448.3	tolerated_low_confidence(0.16)		2/4		hmmpanther:PTHR24329:SF374,hmmpanther:PTHR24329																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	104254538	104254538	C	A	1	0	0	0	0	1	0	0	0	5125	855	30	2		2	ESX1	23	104254538	Missense_Mutation	SNP	C	C3N-02149_TP	2127534	104254538	51786357	567	30499											
IL1RAPL2	0	.	GRCh38	chrX	105749043	105749043	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtggtcatttacaaatgcTacaacattgaattgatgctc	12	14	8	7	0	1	2	1	2	0	0	2	2	1	2	0	2	5	2	0	2	5	5	novel		C3N-02149_TP	C3N-02149_NB	T	T																c.1132T>C	p.Tyr378His	p.Y378H	ENST00000372582	9/11	120	78	42	159	159	0	strelka-varscan-mutect	IL1RAPL2,missense_variant,p.Tyr378His,ENST00000372582,NM_017416.1;IL1RAPL2,missense_variant,p.Tyr121His,ENST00000344799,;IL1RAPL2,non_coding_transcript_exon_variant,,ENST00000485671,;	C	ENST00000372582	Transcript	missense_variant	1888/2985	1132/2061	378/686	Y/H	Tac/Cac		1		1	IL1RAPL2	HGNC	HGNC:5997	protein_coding	YES	CCDS14517.1	ENSP00000361663	Q9NP60		UPI0000073DF7	NM_017416.1	deleterious(0)		9/11		Prints_domain:PR01537,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF10,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	92	105749043	105749043	T	C	1	0	0	0	0	1	0	0	0	7565	1522	53	5		5	IL1RAPL2	23	105749043	Missense_Mutation	SNP	T	C3N-02149_TP	1494505	105749043	50291852	568	30500											
ZCCHC16	0	.	GRCh38	chrX	112454953	112454953	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaattgctcagagttcctCactcaggtgactacctactt	9	12	7	13	0	3	2	3	1	0	1	4	2	4	2	3	1	3	2	3	1	3	5	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.225C>A	p.=	p.L75L	ENST00000340433	1/1	73	49	24	75	75	0	strelka-varscan-mutect	ZCCHC16,synonymous_variant,p.=,ENST00000340433,NM_001004308.2;	A	ENST00000340433	Transcript	synonymous_variant	454/2613	225/933	75/310	L	ctC/ctA		1		1	ZCCHC16	HGNC	HGNC:25214	protein_coding	YES	CCDS35369.1	ENSP00000340590	Q6ZR62		UPI00001975B5	NM_001004308.2			1/1		hmmpanther:PTHR15503:SF8,hmmpanther:PTHR15503																	LOW	1	SNV				1										PASS		.	.												A	2	1	92	112454953	112454953	C	A	1	0	0	0	0	0	0	0	1	18159	813	29	2		2	ZCCHC16	23	112454953	Silent	SNP	C	C3N-02149_TP	6705910	112454953	43585942	569	30501											
HTR2C	0	.	GRCh38	chrX	114907332	114907332	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaaagccagtgacaatgagCccggtatagagatgcaagtt	15	7	12	7	1	0	4	0	2	0	2	0	5	0	4	2	1	3	3	2	1	5	3			C3N-02149_TP	C3N-02149_NB	C	C																c.1294C>A	p.Pro432Thr	p.P432T	ENST00000276198	6/6	148	98	50	185	185	0	strelka-varscan-mutect	HTR2C,missense_variant,p.Pro432Thr,ENST00000276198,NM_000868.3;HTR2C,missense_variant,p.Pro432Thr,ENST00000371951,NM_001256760.2;HTR2C,3_prime_UTR_variant,,ENST00000371950,NM_001256761.2;	A	ENST00000276198	Transcript	missense_variant	2022/4751	1294/1377	432/458	P/T	Ccc/Acc	COSM1113425	1		1	HTR2C	HGNC	HGNC:5295	protein_coding	YES	CCDS14564.1	ENSP00000276198	P28335		UPI000014653A	NM_000868.3	tolerated_low_confidence(0.46)		6/6		Prints_domain:PR00517,PD015242											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	92	114907332	114907332	C	A	1	0	0	0	0	1	0	0	0	7339	739	26	2		2	HTR2C	23	114907332	Missense_Mutation	SNP	C	C3N-02149_TP	2452379	114907332	41133563	570	30502											
ENOX2	0	.	GRCh38	chrX	130625414	130625414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaaggtatgctggagtctaCccatgagacactccacatcg	11	9	10	11	1	1	2	0	2	1	1	3	4	2	3	2	2	2	2	2	2	3	2	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1733G>T	p.Gly578Val	p.G578V	ENST00000338144	16/16	121	88	33	109	109	0	strelka-varscan-mutect	ENOX2,missense_variant,p.Gly578Val,ENST00000338144,NM_182314.2;ENOX2,missense_variant,p.Gly549Val,ENST00000394363,NM_006375.3;ENOX2,missense_variant,p.Gly549Val,ENST00000370935,NM_001281736.1;ENOX2,missense_variant,p.Gly578Val,ENST00000370927,;ENOX2,missense_variant,p.Gly231Val,ENST00000610637,;	A	ENST00000338144	Transcript	missense_variant	2234/4263	1733/1833	578/610	G/V	gGt/gTt		1		-1	ENOX2	HGNC	HGNC:2259	protein_coding	YES	CCDS14626.1	ENSP00000337146	Q16206		UPI00000729D5	NM_182314.2	tolerated(0.53)		16/16		hmmpanther:PTHR16001:SF7,hmmpanther:PTHR16001																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	92	130625414	130625414	C	A	1	0	0	0	0	1	0	0	0	4972	507	18	2		2	ENOX2	23	130625414	Missense_Mutation	SNP	C	C3N-02149_TP	15718082	130625414	25415481	571	30503											
ARHGAP36	0	.	GRCh38	chrX	131084379	131084379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaatcccccaggttgttgaGgcttgctgccaattcattga	9	12	9	11	0	1	2	1	2	0	0	2	2	2	2	3	2	2	4	3	2	2	5	rs763340310		C3N-02149_TP	C3N-02149_NB	G	G																c.720G>T	p.Glu240Asp	p.E240D	ENST00000276211	5/12	83	64	19	87	87	0	strelka-varscan-mutect	ARHGAP36,missense_variant,p.Glu240Asp,ENST00000276211,NM_144967.3;ARHGAP36,missense_variant,p.Glu228Asp,ENST00000370922,NM_001282607.1;ARHGAP36,missense_variant,p.Glu209Asp,ENST00000412432,;ARHGAP36,missense_variant,p.Glu104Asp,ENST00000370921,;ARHGAP36,missense_variant,p.Glu192Asp,ENST00000423277,;	T	ENST00000276211	Transcript	missense_variant	1065/3083	720/1644	240/547	E/D	gaG/gaT	rs763340310	1		1	ARHGAP36	HGNC	HGNC:26388	protein_coding	YES	CCDS14628.1	ENSP00000276211	Q6ZRI8		UPI0000041347	NM_144967.3	tolerated(0.99)		5/12		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR12635,SMART_domains:SM00324,Superfamily_domains:SSF48350																	MODERATE	1	SNV	2			1										PASS		rs763340310	.												T	3	4	92	131084379	131084379	G	T	1	0	0	0	0	1	0	0	0	1009	991	35	2		2	ARHGAP36	23	131084379	Missense_Mutation	SNP	G	C3N-02149_TP	458965	131084379	24956516	572	30504											
SPANXD	0	.	GRCh38	chrX	141697543	141697543	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggttgattctgttctttcgGgcgtggtcattcaccagttc	4	16	12	9	2	4	1	2	1	2	0	6	1	4	1	1	3	0	3	1	3	0	6	rs782085224		C3N-02149_TP	C3N-02149_NB	G	G																c.216C>A	p.=	p.A72A	ENST00000370515	2/2	352	276	76	494	494	0	strelka-varscan-mutect	SPANXD,synonymous_variant,p.=,ENST00000370515,NM_032417.3;	T	ENST00000370515	Transcript	synonymous_variant	550/682	216/294	72/97	A	gcC/gcA	rs782085224,COSM4939356	1		-1	SPANXD	HGNC	HGNC:14332	protein_coding	YES	CCDS14675.1	ENSP00000359546	Q9BXN6		UPI0000070F37	NM_032417.3			2/2		Pfam_domain:PF07458,hmmpanther:PTHR23425,hmmpanther:PTHR23425:SF1											0,1						LOW	1	SNV	1		0,1	1										PASS		rs782085224	.												T	2	4	92	141697543	141697543	G	T	1	0	0	0	0	0	0	0	1	15320	1219	43	2		2	SPANXD	23	141697543	Silent	SNP	G	C3N-02149_TP	10613164	141697543	14343352	573	30505											
SLITRK2	0	.	GRCh38	chrX	145824679	145824679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcaggccacaccaagagagCctgagctgctgtatcaaaat	14	6	10	11	0	1	2	1	1	0	1	1	3	1	2	3	1	4	4	3	1	4	1	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2254C>A	p.Pro752Thr	p.P752T	ENST00000370490	1/1	191	149	42	234	233	1	strelka-varscan-mutect	SLITRK2,missense_variant,p.Pro752Thr,ENST00000370490,NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2;SLITRK2,downstream_gene_variant,,ENST00000335565,;TMEM257,upstream_gene_variant,,ENST00000408967,NM_004709.2;	A	ENST00000370490	Transcript	missense_variant	6509/7672	2254/2538	752/845	P/T	Cct/Act		1		1	SLITRK2	HGNC	HGNC:13449	protein_coding	YES	CCDS14680.1	ENSP00000359521	Q9H156		UPI000004E64B	NM_001144005.2,NM_001144004.2,NM_001144003.2,NM_032539.4,NM_001144008.2,NM_001144010.2,NM_001144006.2,NM_001144009.2	tolerated(0.32)		1/1																			MODERATE	1	SNV				1										PASS		rs932637565	.												A	3	1	92	145824679	145824679	C	A	1	0	0	0	0	1	0	0	0	15034	739	26	2		2	SLITRK2	23	145824679	Missense_Mutation	SNP	C	C3N-02149_TP	4127136	145824679	10216216	574	30506											
AFF2	0	.	GRCh38	chrX	148962727	148962727	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcacagaaataattcatcCaggagagcaaatagaagaaa	20	8	7	6	0	2	4	2	0	0	4	3	5	3	4	1	1	1	1	1	1	6	4	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.2703C>A	p.=	p.S901S	ENST00000370460	13/21	115	79	36	106	106	0	strelka-varscan-mutect	AFF2,synonymous_variant,p.=,ENST00000370460,NM_001169123.1,NM_002025.3;AFF2,synonymous_variant,p.=,ENST00000286437,NM_001170628.1;AFF2,synonymous_variant,p.=,ENST00000342251,NM_001169122.1;AFF2,synonymous_variant,p.=,ENST00000370457,NM_001169124.1,NM_001169125.1;	A	ENST00000370460	Transcript	synonymous_variant	3182/13746	2703/3936	901/1311	S	tcC/tcA		1		1	AFF2	HGNC	HGNC:3776	protein_coding	YES	CCDS14684.1	ENSP00000359489	P51816		UPI000049E130	NM_001169123.1,NM_002025.3			13/21		Low_complexity_(Seg):seg,hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF18,Pfam_domain:PF05110																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	92	148962727	148962727	C	A	1	0	0	0	0	0	0	0	1	434	581	21	2		2	AFF2	23	148962727	Silent	SNP	C	C3N-02149_TP	3138048	148962727	7078168	575	30507											
MAGEA4	0	.	GRCh38	chrX	151923736	151923736	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccaagaagaggccctgggCctggtgggtgcacaggctcc	7	5	16	13	0	0	2	0	0	0	2	1	2	1	2	4	5	1	2	4	5	2	0	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.72C>A	p.=	p.G24G	ENST00000360243	3/3	126	82	44	165	164	1	strelka-varscan-mutect	MAGEA4,synonymous_variant,p.=,ENST00000360243,NM_001011550.1;MAGEA4,synonymous_variant,p.=,ENST00000370335,;MAGEA4,synonymous_variant,p.=,ENST00000370340,;MAGEA4,synonymous_variant,p.=,ENST00000393921,;MAGEA4,synonymous_variant,p.=,ENST00000276344,NM_001011548.1;MAGEA4,synonymous_variant,p.=,ENST00000393920,NM_002362.4,NM_001011549.1;MAGEA4,synonymous_variant,p.=,ENST00000416020,;MAGEA4,synonymous_variant,p.=,ENST00000431971,;MAGEA4,synonymous_variant,p.=,ENST00000441865,;MAGEA4,synonymous_variant,p.=,ENST00000457310,;MAGEA4,synonymous_variant,p.=,ENST00000430273,;MAGEA4,synonymous_variant,p.=,ENST00000425182,;MAGEA4,synonymous_variant,p.=,ENST00000448295,;MAGEA4,synonymous_variant,p.=,ENST00000431963,;	A	ENST00000360243	Transcript	synonymous_variant	339/1773	72/954	24/317	G	ggC/ggA		1		1	MAGEA4	HGNC	HGNC:6802	protein_coding	YES	CCDS14702.1	ENSP00000353379	P43358	A0A024RC12	UPI000013EA1F	NM_001011550.1			3/3		hmmpanther:PTHR11736:SF48,hmmpanther:PTHR11736,Pfam_domain:PF12440,SMART_domains:SM01392																	LOW	1	SNV	1			1										PASS		rs1478613516	.												A	2	1	92	151923736	151923736	C	A	1	0	0	0	0	0	0	0	1	9084	726	26	2		2	MAGEA4	23	151923736	Silent	SNP	C	C3N-02149_TP	2961009	151923736	4117159	576	30508											
DUSP9	0	.	GRCh38	chrX	153649256	153649256	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcagattccaggccgAgtgccctcacctgtgtgaga	8	9	11	13	1	2	2	2	1	0	2	3	4	3	2	4	1	2	1	4	1	0	2	novel		C3N-02149_TP	C3N-02149_NB	A	A																c.398A>T	p.Glu133Val	p.E133V	ENST00000342782	3/4	158	105	53	181	181	0	strelka-varscan-mutect	DUSP9,missense_variant,p.Glu133Val,ENST00000342782,NM_001318503.1;DUSP9,missense_variant,p.Glu133Val,ENST00000370167,NM_001395.3;DUSP9,downstream_gene_variant,,ENST00000477033,;	T	ENST00000342782	Transcript	missense_variant	663/2433	398/1155	133/384	E/V	gAg/gTg		1		1	DUSP9	HGNC	HGNC:3076	protein_coding	YES	CCDS14724.1	ENSP00000345853	Q99956		UPI0000049C1B	NM_001318503.1	deleterious(0.03)		3/4		Gene3D:3.40.250.10,PIRSF_domain:PIRSF000939,PROSITE_profiles:PS50206,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF388,SMART_domains:SM00450,Superfamily_domains:SSF52821																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	92	153649256	153649256	A	T	1	0	0	0	0	1	0	0	0	4654	304	11	4		4	DUSP9	23	153649256	Missense_Mutation	SNP	A	C3N-02149_TP	1725520	153649256	2391639	577	30509											
NLGN4Y	0	.	GRCh38	chrY	14840594	14840594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttctggttggaattggttCctcatttgcacaacttgaac	8	16	8	9	0	2	1	1	1	1	0	3	2	3	2	1	3	3	3	1	3	3	6	novel		C3N-02149_TP	C3N-02149_NB	C	C																c.1783C>A	p.Pro595Thr	p.P595T	ENST00000355905	6/6	602	557	45	847	847	0	varscan-mutect	NLGN4Y,missense_variant,p.Pro427Thr,ENST00000382872,NM_001206850.1;NLGN4Y,missense_variant,p.Pro652Thr,ENST00000382868,;NLGN4Y,missense_variant,p.Pro595Thr,ENST00000339174,;NLGN4Y,missense_variant,p.Pro595Thr,ENST00000355905,NM_014893.4;NLGN4Y,non_coding_transcript_exon_variant,,ENST00000476359,;	A	ENST00000355905	Transcript	missense_variant	2035/5167	1783/2451	595/816	P/T	Cct/Act		1		1	NLGN4Y	HGNC	HGNC:15529	protein_coding	YES	CCDS14788.1	ENSP00000348169	Q8NFZ3	A0A024R9E7	UPI000004770C	NM_014893.4	deleterious(0)		6/6		Gene3D:3.40.50.1820,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF260,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	92	14840594	14840594	C	A	1	0	0	0	0	1	0	0	0	10502	855	30	2		2	NLGN4Y	24	14840594	Missense_Mutation	SNP	C	C3N-02149_TP		14840594	42386821	578	30510											
ATAD3C	0	.	GRCh38	chr1	1459181	1459181	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaagataagcgaggacctCagggccacactgaacgcctt	13	5	12	11	2	1	3	1	1	0	2	1	6	1	4	3	2	2	0	3	2	3	2	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.762C>T	p.=	p.L254L	ENST00000378785	9/12	216	176	40	156	156	0	strelka-varscan-mutect	ATAD3C,synonymous_variant,p.=,ENST00000378785,NM_001039211.2;ATAD3C,downstream_gene_variant,,ENST00000475091,;ATAD3C,upstream_gene_variant,,ENST00000484537,;	T	ENST00000378785	Transcript	synonymous_variant	1757/3859	762/1236	254/411	L	ctC/ctT		1		1	ATAD3C	HGNC	HGNC:32151	protein_coding	YES	CCDS44039.1	ENSP00000368062	Q5T2N8		UPI00001619C0	NM_001039211.2			9/12		hmmpanther:PTHR23075:SF5,hmmpanther:PTHR23075,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	93	1459181	1459181	C	T	1	0	0	0	0	0	0	0	1	1223	813	29	3		3	ATAD3C	1	1459181	Silent	SNP	C	C3N-02155_TP		1459181	247497241	1	30511											
HNRNPCL1	0	.	GRCh38	chr1	12847765	12847765	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgaaggtcatcacctttCaactttccagacttggaaga	11	11	8	11	0	3	3	3	1	0	2	4	4	4	4	3	2	1	0	3	2	3	3	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.525G>A	p.=	p.L175L	ENST00000317869	2/2	1099	954	145	814	813	1	strelka-varscan-mutect	HNRNPCL1,synonymous_variant,p.=,ENST00000317869,NM_001013631.2;	T	ENST00000317869	Transcript	synonymous_variant	751/1108	525/882	175/293	L	ttG/ttA		1		-1	HNRNPCL1	HGNC	HGNC:29295	protein_coding	YES	CCDS30591.1	ENSP00000365370	O60812		UPI0000134525	NM_001013631.2			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR13968:SF17,hmmpanther:PTHR13968,PIRSF_domain:PIRSF037992																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	93	12847765	12847765	C	T	1	0	0	0	0	0	0	0	1	7154	825	29	3		3	HNRNPCL1	1	12847765	Silent	SNP	C	C3N-02155_TP	11388584	12847765	236108657	2	30512											
SZT2	0	.	GRCh38	chr1	43428383	43428383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacacttggggtttgcctCatgcacccccaagtcctggt	6	10	10	15	0	1	0	1	0	0	0	2	0	2	0	5	3	2	2	5	3	1	2	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.3892C>T	p.His1298Tyr	p.H1298Y	ENST00000562955	27/71	435	361	74	382	382	0	strelka-varscan-mutect	SZT2,missense_variant,p.His1298Tyr,ENST00000562955,NM_015284.3;SZT2,missense_variant,p.His1355Tyr,ENST00000634258,;SZT2,non_coding_transcript_exon_variant,,ENST00000470139,;SZT2,upstream_gene_variant,,ENST00000478140,;	T	ENST00000562955	Transcript	missense_variant	3892/12281	3892/10128	1298/3375	H/Y	Cat/Tat		1		1	SZT2	HGNC	HGNC:29040	protein_coding	YES	CCDS30694.2	ENSP00000457168	Q5T011		UPI0001E24F46	NM_015284.3	deleterious_low_confidence(0.02)		27/71		hmmpanther:PTHR14918,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	93	43428383	43428383	C	T	1	0	0	0	0	1	0	0	0	15883	826	29	3		3	SZT2	1	43428383	Missense_Mutation	SNP	C	C3N-02155_TP	30580618	43428383	205528039	3	30513											
FAM151A	0	.	GRCh38	chr1	54612505	54612505	+	Missense_Mutation	SNP	G	G	T																															cctctcagattggctcagcaGccagctgaagtggggccagg																								novel		C3N-02155_TP	C3N-02155_NB	G	G																c.781C>A	p.Leu261Met	p.L261M	ENST00000302250	5/8	302	261	41	203	203	0	strelka-varscan-mutect	FAM151A,missense_variant,p.Leu261Met,ENST00000302250,NM_176782.2;FAM151A,missense_variant,p.Leu261Met,ENST00000371304,;ACOT11,intron_variant,,ENST00000371316,NM_015547.3;ACOT11,downstream_gene_variant,,ENST00000343744,NM_147161.3;ACOT11,downstream_gene_variant,,ENST00000481208,;	T	ENST00000302250	Transcript	missense_variant	942/2005	781/1758	261/585	L/M	Ctg/Atg		1		-1	FAM151A	HGNC	HGNC:25032	protein_coding	YES	CCDS594.1	ENSP00000306888	Q8WW52		UPI000003776D	NM_176782.2	deleterious(0)		5/8		Pfam_domain:PF10223,hmmpanther:PTHR21184,hmmpanther:PTHR21184:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	93	54612505	54612505	G	T	1	0	0	0	0	1	0	0	0	5308	962	34	2		2	FAM151A	1	54612505	Missense_Mutation	SNP	G	C3N-02155_TP	11184122	54612505	194343917	4	30514	630	2									
FAM151A	0	.	GRCh38	chr1	54612506	54612506	+	Nonsense_Mutation	SNP	C	C	T																															ctctcagattggctcagcagCcagctgaagtggggccaggc																								novel		C3N-02155_TP	C3N-02155_NB	C	C																c.780G>A	p.Trp260Ter	p.W260*	ENST00000302250	5/8	304	262	42	207	207	0	strelka-varscan-mutect	FAM151A,stop_gained,p.Trp260Ter,ENST00000302250,NM_176782.2;FAM151A,stop_gained,p.Trp260Ter,ENST00000371304,;ACOT11,intron_variant,,ENST00000371316,NM_015547.3;ACOT11,downstream_gene_variant,,ENST00000343744,NM_147161.3;ACOT11,downstream_gene_variant,,ENST00000481208,;	T	ENST00000302250	Transcript	stop_gained	941/2005	780/1758	260/585	W/*	tgG/tgA		1		-1	FAM151A	HGNC	HGNC:25032	protein_coding	YES	CCDS594.1	ENSP00000306888	Q8WW52		UPI000003776D	NM_176782.2			5/8		Pfam_domain:PF10223,hmmpanther:PTHR21184,hmmpanther:PTHR21184:SF4																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	93	54612506	54612506	C	T	1	0	0	0	0	0	1	0	0	5308	740	26	3		3	FAM151A	1	54612506	Nonsense_Mutation	SNP	C	C3N-02155_TP	1	54612506	194343916	5	30515	630	2									
LRRC7	0	.	GRCh38	chr1	70028369	70028369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccccaaaggagattacagtgGaggtatttgaaggttattgg	12	11	13	5	0	0	2	0	1	0	1	0	4	0	3	2	5	1	2	2	5	5	5	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.1879G>C	p.Glu627Gln	p.E627Q	ENST00000035383	16/25	266	222	44	159	159	0	strelka-varscan-mutect	LRRC7,missense_variant,p.Glu632Gln,ENST00000310961,;LRRC7,missense_variant,p.Glu627Gln,ENST00000035383,NM_020794.2;LRRC7,intron_variant,,ENST00000415775,;RP11-181B18.1,intron_variant,,ENST00000414132,;	C	ENST00000035383	Transcript	missense_variant,splice_region_variant	1909/5000	1879/4614	627/1537	E/Q	Gag/Cag		1		1	LRRC7	HGNC	HGNC:18531	protein_coding	YES	CCDS645.1	ENSP00000035383	Q96NW7		UPI000006F29B	NM_020794.2	tolerated(0.24)		16/25																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	93	70028369	70028369	G	C	1	0	0	0	0	1	0	0	0	8916	1188	41	4		4	LRRC7	1	70028369	Missense_Mutation	SNP	G	C3N-02155_TP	15415863	70028369	178928053	6	30516											
CTTNBP2NL	0	.	GRCh38	chr1	112455930	112455930	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttttctttttttttctaGttggaatttgaaaaatccca	9	21	4	7	0	3	1	0	1	3	0	4	2	4	2	1	1	0	1	1	1	4	9	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.439-1G>T		p.X147_splice	ENST00000271277		74	68	6	61	61	0	varscan-mutect	CTTNBP2NL,splice_acceptor_variant,,ENST00000271277,NM_018704.2;CTTNBP2NL,splice_acceptor_variant,,ENST00000441739,;CTTNBP2NL,upstream_gene_variant,,ENST00000607039,;	T	ENST00000271277	Transcript	splice_acceptor_variant	-/5897	439/1920	147/639				1		1	CTTNBP2NL	HGNC	HGNC:25330	protein_coding	YES	CCDS845.1	ENSP00000271277	Q9P2B4	A0A024R0C7	UPI000006ED23	NM_018704.2				5/5																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	93	112455930	112455930	G	T	1	0	0	0	0	0	0	1	0	3855	1043	36	2		2	CTTNBP2NL	1	112455930	Splice_Site	SNP	G	C3N-02155_TP	42427561	112455930	136500492	7	30517											
TRIM33	0	.	GRCh38	chr1	114511064	114511064	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcctcgccgccgccttTgttttccgccatgttttcct	2	15	7	17	4	1	0	1	0	0	0	4	0	3	0	7	0	1	2	7	0	0	5	novel		C3N-02155_TP	C3N-02155_NB	T	T																c.13A>G	p.Lys5Glu	p.K5E	ENST00000358465	1/20	247	216	31	69	69	0	strelka-varscan-mutect	TRIM33,missense_variant,p.Lys5Glu,ENST00000358465,NM_015906.3;TRIM33,missense_variant,p.Lys5Glu,ENST00000369543,NM_033020.2;	C	ENST00000358465	Transcript	missense_variant	97/8339	13/3384	5/1127	K/E	Aaa/Gaa		1		-1	TRIM33	HGNC	HGNC:16290	protein_coding	YES	CCDS872.1	ENSP00000351250	Q9UPN9		UPI000013D8CD	NM_015906.3	deleterious_low_confidence(0)		1/20																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	93	114511064	114511064	T	C	1	0	0	0	0	1	0	0	0	16996	1821	63	5		5	TRIM33	1	114511064	Missense_Mutation	SNP	T	C3N-02155_TP	2055134	114511064	134445358	8	30518											
HIST2H3PS2	0	.	GRCh38	chr1	143905727	143905727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggaagcgcaggtccgtCttaaactcctgcgcgatctc	7	10	10	14	4	3	0	0	0	3	0	6	2	5	1	2	2	3	1	2	2	3	1	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.240G>T	p.Lys80Asn	p.K80N	ENST00000392948	1/1	894	702	192	458	458	0	strelka-varscan-mutect	HIST2H3PS2,missense_variant,p.Lys80Asn,ENST00000392948,;RP5-998N21.7,intron_variant,,ENST00000444624,;RP5-998N21.10,non_coding_transcript_exon_variant,,ENST00000609879,;HIST2H2BB,upstream_gene_variant,,ENST00000609585,;HIST2H2BB,upstream_gene_variant,,ENST00000449108,;	A	ENST00000392948	Transcript	missense_variant	240/411	240/411	80/136	K/N	aaG/aaT		1		-1	HIST2H3PS2	HGNC	HGNC:32060	protein_coding	YES		ENSP00000476960		Q5TEC6	UPI0000470A88		deleterious_low_confidence(0.04)		1/1		Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,SMART_domains:SM00428,Superfamily_domains:SSF47113																	MODERATE		SNV				1										PASS		.	.												A	3	1	93	143905727	143905727	C	A	1	0	0	0	0	1	0	0	0	7070	912	32	2		2	HIST2H3PS2	1	143905727	Missense_Mutation	SNP	C	C3N-02155_TP	29394663	143905727	105050695	9	30519											
SEMA6C	0	.	GRCh38	chr1	151132335	151132335	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagacagtcaataaataaacCcgaggcgaaaaggggcctcg	17	4	11	9	3	1	1	1	0	0	1	2	3	1	1	2	3	1	0	2	3	8	2	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.1476G>C	p.=	p.R492R	ENST00000613223	14/14	240	195	45	108	108	0	strelka-varscan-mutect	SEMA6C,synonymous_variant,p.=,ENST00000613223,;SEMA6C,synonymous_variant,p.=,ENST00000621728,;SEMA6C,3_prime_UTR_variant,,ENST00000341697,;SEMA6C,3_prime_UTR_variant,,ENST00000368914,NM_030913.4;SEMA6C,3_prime_UTR_variant,,ENST00000368913,NM_001178061.1;SEMA6C,3_prime_UTR_variant,,ENST00000368912,NM_001178062.1;RP11-68I18.10,upstream_gene_variant,,ENST00000563624,;SEMA6C,non_coding_transcript_exon_variant,,ENST00000479820,;SEMA6C,downstream_gene_variant,,ENST00000464018,;SEMA6C,downstream_gene_variant,,ENST00000489944,;	G	ENST00000613223	Transcript	synonymous_variant	1812/1950	1476/1614	492/537	R	cgG/cgC		1		-1	SEMA6C	HGNC	HGNC:10740	protein_coding			ENSP00000482163		A0A087WYX3	UPI0001AE791C				14/14																			LOW		SNV	5			1										PASS		rs1245567331	.												G	2	3	93	151132335	151132335	C	G	1	0	0	0	0	0	0	0	1	14317	610	22	4		4	SEMA6C	1	151132335	Silent	SNP	C	C3N-02155_TP	7226608	151132335	97824087	10	30520											
IQGAP3	0	.	GRCh38	chr1	156550273	156550273	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatttacttctctgagctgTattagtgtcctggttggctc	5	17	9	10	0	1	1	0	1	1	0	4	1	2	1	2	2	2	4	2	2	3	6	novel		C3N-02155_TP	C3N-02155_NB	T	T																c.1813A>G	p.Thr605Ala	p.T605A	ENST00000361170	16/38	432	395	37	151	151	0	strelka-varscan-mutect	IQGAP3,missense_variant,p.Thr605Ala,ENST00000361170,NM_178229.4;IQGAP3,missense_variant,p.Thr562Ala,ENST00000491900,;	C	ENST00000361170	Transcript	missense_variant	1824/5988	1813/4896	605/1631	T/A	Aca/Gca		1		-1	IQGAP3	HGNC	HGNC:20669	protein_coding	YES	CCDS1144.1	ENSP00000354451	Q86VI3		UPI000046FFDD	NM_178229.4	tolerated(0.65)		16/38		hmmpanther:PTHR14149:SF10,hmmpanther:PTHR14149																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	93	156550273	156550273	T	C	1	0	0	0	0	1	0	0	0	7722	1638	57	5		5	IQGAP3	1	156550273	Missense_Mutation	SNP	T	C3N-02155_TP	5417938	156550273	92406149	11	30521											
CAMSAP2	0	.	GRCh38	chr1	200849683	200849683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaagtgcatctttttctGttaaaagtcaaaggactcct	13	13	8	7	0	3	0	1	0	2	0	4	2	4	2	1	2	1	2	1	2	5	3	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.2947G>A	p.Val983Ile	p.V983I	ENST00000236925	12/18	604	529	75	292	292	0	strelka-varscan	CAMSAP2,missense_variant,p.Val972Ile,ENST00000358823,NM_203459.2;CAMSAP2,missense_variant,p.Val983Ile,ENST00000236925,NM_001297707.1;CAMSAP2,missense_variant,p.Val956Ile,ENST00000413307,NM_001297708.1;CAMSAP2,intron_variant,,ENST00000447701,;	A	ENST00000236925	Transcript	missense_variant	2996/7161	2947/4470	983/1489	V/I	Gtt/Att		1		1	CAMSAP2	HGNC	HGNC:29188	protein_coding	YES	CCDS72998.1	ENSP00000236925	Q08AD1		UPI0000160246	NM_001297707.1	tolerated(0.3)		12/18		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	93	200849683	200849683	G	A	1	0	0	0	0	1	0	0	0	2304	1377	48	3		3	CAMSAP2	1	200849683	Missense_Mutation	SNP	G	C3N-02155_TP	44299410	200849683	48106739	12	30522											
KLHL12	0	.	GRCh38	chr1	202894742	202894742	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagcctccagagacataGatcatatctgctcagaataa	16	9	6	10	0	4	3	3	0	1	3	5	4	5	3	2	0	2	1	2	0	5	3	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.1143C>A	p.=	p.I381I	ENST00000367261	9/12	352	299	53	212	211	1	strelka-varscan	KLHL12,synonymous_variant,p.=,ENST00000367261,NM_001303051.1,NM_001303109.1,NM_021633.3;KLHL12,synonymous_variant,p.=,ENST00000367259,;	T	ENST00000367261	Transcript	synonymous_variant	1362/3359	1143/1707	381/568	I	atC/atA		1		-1	KLHL12	HGNC	HGNC:19360	protein_coding	YES	CCDS1429.1	ENSP00000356230	Q53G59		UPI000006EE6A	NM_001303051.1,NM_001303109.1,NM_021633.3			9/12		Superfamily_domains:0052715,Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF250,SMART_domains:SM00612																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	93	202894742	202894742	G	T	1	0	0	0	0	0	0	0	1	8232	932	33	2		2	KLHL12	1	202894742	Silent	SNP	G	C3N-02155_TP	2045059	202894742	46061680	13	30523											
TPO	0	.	GRCh38	chr2	1477436	1477436	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagacccgcgggccctgcttCctggccggagacggccgcgc	4	4	16	17	6	0	2	0	0	0	2	1	4	1	2	5	4	1	1	5	4	0	1			C3N-02155_TP	C3N-02155_NB	C	C																c.1170C>T	p.=	p.F390F	ENST00000345913	8/17	324	278	46	141	141	0	strelka-varscan-mutect	TPO,synonymous_variant,p.=,ENST00000422464,;TPO,synonymous_variant,p.=,ENST00000345913,NM_000547.5;TPO,synonymous_variant,p.=,ENST00000329066,NM_001206744.1;TPO,synonymous_variant,p.=,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,synonymous_variant,p.=,ENST00000346956,NM_175721.3;TPO,intron_variant,,ENST00000382198,NM_175722.3;TPO,intron_variant,,ENST00000497517,;	T	ENST00000345913	Transcript	synonymous_variant	1261/3145	1170/2802	390/933	F	ttC/ttT	COSM4646031,COSM4646032	1		1	TPO	HGNC	HGNC:12015	protein_coding	YES	CCDS1643.1	ENSP00000318820	P07202		UPI000013D480	NM_000547.5			8/17		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF60,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1362585989	.												T	2	4	93	1477436	1477436	C	T	1	0	0	0	0	0	0	0	1	16891	854	30	3		3	TPO	2	1477436	Silent	SNP	C	C3N-02155_TP		1477436	240716093	14	30524											
ATP6V1C2	0	.	GRCh38	chr2	10768756	10768756	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggacctgaagtcccgaaCggccgcctacaacactctga	11	6	10	14	3	1	2	0	2	1	0	2	5	2	3	4	2	3	0	4	2	4	1	rs201753402		C3N-02155_TP	C3N-02155_NB	C	C																c.416C>G	p.Thr139Arg	p.T139R	ENST00000272238	6/14	469	368	101	256	256	0	strelka-varscan-mutect	ATP6V1C2,missense_variant,p.Thr139Arg,ENST00000381661,NM_144583.3;ATP6V1C2,missense_variant,p.Thr149Arg,ENST00000635370,;ATP6V1C2,missense_variant,p.Thr139Arg,ENST00000272238,NM_001039362.1;RP11-791G15.2,intron_variant,,ENST00000606907,;	G	ENST00000272238	Transcript	missense_variant	525/1565	416/1284	139/427	T/R	aCg/aGg	rs201753402	1		1	ATP6V1C2	HGNC	HGNC:18264	protein_coding	YES	CCDS42653.1	ENSP00000272238	Q8NEY4		UPI0000208E71	NM_001039362.1	deleterious(0.03)		6/14		Superfamily_domains:0049812,Gene3D:1u7lA02,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03223,hmmpanther:PTHR10137,hmmpanther:PTHR10137:SF4																	MODERATE	1	SNV	5			1										PASS		rs201753402	.												G	3	3	93	10768756	10768756	C	G	1	0	0	0	0	1	0	0	0	1334	536	19	4		4	ATP6V1C2	2	10768756	Missense_Mutation	SNP	C	C3N-02155_TP	9291320	10768756	231424773	15	30525											
ADCY3	0	.	GRCh38	chr2	24824453	24824453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttggtgaccaaggcctcgttCcagcgtcgcatctcatagac	8	10	10	13	3	1	2	1	1	1	1	5	2	2	2	3	2	1	2	3	2	2	3	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.2661G>C	p.Trp887Cys	p.W887C	ENST00000260600	16/21	405	302	103	242	242	0	strelka-varscan	ADCY3,missense_variant,p.Trp887Cys,ENST00000260600,NM_004036.3;ADCY3,missense_variant,p.Trp888Cys,ENST00000405392,NM_001320613.1;ADCY3,missense_variant,p.Trp534Cys,ENST00000606682,;CENPO,downstream_gene_variant,,ENST00000380834,NM_001322101.1;CENPO,downstream_gene_variant,,ENST00000473706,NM_001199803.1;CENPO,downstream_gene_variant,,ENST00000260662,NM_024322.2;ADCY3,upstream_gene_variant,,ENST00000498288,;ADCY3,downstream_gene_variant,,ENST00000455323,;RP11-443B20.1,upstream_gene_variant,,ENST00000606114,;CENPO,downstream_gene_variant,,ENST00000395845,;CENPO,downstream_gene_variant,,ENST00000464156,;ADCY3,downstream_gene_variant,,ENST00000450524,;ADCY3,upstream_gene_variant,,ENST00000485887,;	G	ENST00000260600	Transcript	missense_variant	3513/5050	2661/3435	887/1144	W/C	tgG/tgC		1		-1	ADCY3	HGNC	HGNC:234	protein_coding	YES	CCDS1715.1	ENSP00000260600	O60266		UPI000013D0ED	NM_004036.3	deleterious(0.05)		16/21		hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF291,PIRSF_domain:PIRSF039050,SMART_domains:SM00044																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	93	24824453	24824453	C	G	1	0	0	0	0	1	0	0	0	339	856	30	4		4	ADCY3	2	24824453	Missense_Mutation	SNP	C	C3N-02155_TP	14055697	24824453	217369076	16	30526											
KHK	0	.	GRCh38	chr2	27094576	27094576	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacggtcatcatcaacgaGgccagtggtagccgcaccat	10	6	11	14	3	3	0	3	0	0	0	3	1	3	0	4	3	2	2	4	3	2	1	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.309G>C	p.Glu103Asp	p.E103D	ENST00000260599	3/8	800	692	108	463	463	0	strelka-varscan	KHK,missense_variant,p.Glu103Asp,ENST00000260599,NM_000221.2;KHK,missense_variant,p.Glu103Asp,ENST00000429697,;KHK,intron_variant,,ENST00000260598,NM_006488.2;CGREF1,downstream_gene_variant,,ENST00000402550,NM_001166240.1;KHK,non_coding_transcript_exon_variant,,ENST00000490823,;KHK,non_coding_transcript_exon_variant,,ENST00000469936,;CGREF1,downstream_gene_variant,,ENST00000440612,;KHK,upstream_gene_variant,,ENST00000464371,;	C	ENST00000260599	Transcript	missense_variant	822/2411	309/897	103/298	E/D	gaG/gaC		1		1	KHK	HGNC	HGNC:6315	protein_coding	YES	CCDS1734.1	ENSP00000260599	P50053	A0A140VJM6	UPI000012DE02	NM_000221.2	tolerated(0.62)		3/8		Gene3D:3.40.1190.20,Pfam_domain:PF00294,hmmpanther:PTHR10584,hmmpanther:PTHR10584:SF177,Superfamily_domains:SSF53613																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	93	27094576	27094576	G	C	1	0	0	0	0	1	0	0	0	8070	991	35	4		4	KHK	2	27094576	Missense_Mutation	SNP	G	C3N-02155_TP	2270123	27094576	215098953	17	30527											
DYSF	0	.	GRCh38	chr2	71568029	71568029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttgggctctcagtggatGagaaggagttcaaccagttt	9	12	14	6	0	2	1	2	1	1	1	3	4	2	3	1	4	1	4	1	4	2	3	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.2644G>A	p.Glu882Lys	p.E882K	ENST00000410020	25/56	512	449	63	321	320	1	strelka-varscan-mutect	DYSF,missense_variant,p.Glu864Lys,ENST00000258104,NM_003494.3,NM_001130976.1;DYSF,missense_variant,p.Glu881Lys,ENST00000409582,NM_001130981.1,NM_001130977.1;DYSF,missense_variant,p.Glu895Lys,ENST00000413539,NM_001130979.1;DYSF,missense_variant,p.Glu864Lys,ENST00000429174,NM_001130978.1;DYSF,missense_variant,p.Glu881Lys,ENST00000409762,NM_001130980.1;DYSF,missense_variant,p.Glu882Lys,ENST00000410020,NM_001130987.1;DYSF,missense_variant,p.Glu896Lys,ENST00000409651,NM_001130982.1;DYSF,missense_variant,p.Glu865Lys,ENST00000409366,NM_001130983.1;DYSF,missense_variant,p.Glu882Lys,ENST00000410041,NM_001130985.1;DYSF,missense_variant,p.Glu851Lys,ENST00000409744,NM_001130984.1,NM_001130986.1;DYSF,missense_variant,p.Glu865Lys,ENST00000394120,NM_001130455.1;DYSF,upstream_gene_variant,,ENST00000461565,;	A	ENST00000410020	Transcript	missense_variant	2785/6657	2644/6360	882/2119	E/K	Gag/Aag		1		1	DYSF	HGNC	HGNC:3097	protein_coding	YES	CCDS46328.1	ENSP00000386881	O75923		UPI000171F710	NM_001130987.1	deleterious(0.03)		25/56		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF33																	MODERATE	1	SNV	1			1										PASS		rs1412382223	.												A	3	1	93	71568029	71568029	G	A	1	0	0	0	0	1	0	0	0	4683	1291	45	3		3	DYSF	2	71568029	Missense_Mutation	SNP	G	C3N-02155_TP	44473453	71568029	170625500	18	30528											
TLK1	0	.	GRCh38	chr2	171061101	171061101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgactactttcattctggTtttctgcttttctctttctt	3	23	4	11	0	5	1	1	1	4	0	6	1	5	1	1	1	2	2	1	1	1	9	rs34060370		C3N-02155_TP	C3N-02155_NB	T	T																c.386A>G	p.Asn129Ser	p.N129S	ENST00000431350	4/21	431	370	61	336	335	1	strelka-varscan-mutect	TLK1,missense_variant,p.Asn129Ser,ENST00000360843,;TLK1,missense_variant,p.Asn129Ser,ENST00000431350,NM_012290.4;TLK1,missense_variant,p.Asn81Ser,ENST00000521943,NM_001136554.1;TLK1,missense_variant,p.Asn33Ser,ENST00000434911,NM_001136555.1;TLK1,missense_variant,p.Asn33Ser,ENST00000453628,;TLK1,non_coding_transcript_exon_variant,,ENST00000486857,;TLK1,non_coding_transcript_exon_variant,,ENST00000413010,;TLK1,missense_variant,p.Asn129Ser,ENST00000409443,;TLK1,3_prime_UTR_variant,,ENST00000359766,;	C	ENST00000431350	Transcript	missense_variant	791/5663	386/2301	129/766	N/S	aAc/aGc	rs34060370	1		-1	TLK1	HGNC	HGNC:11841	protein_coding	YES	CCDS2241.1	ENSP00000411099	Q9UKI8		UPI0000073255	NM_012290.4	tolerated(0.85)		4/21		hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF22																	MODERATE	1	SNV	1			1										PASS		rs34060370	.												C	3	2	93	171061101	171061101	T	C	1	0	0	0	0	1	0	0	0	16389	1725	60	5		5	TLK1	2	171061101	Missense_Mutation	SNP	T	C3N-02155_TP	99493072	171061101	71132428	19	30529											
SSFA2	0	.	GRCh38	chr2	181929601	181929601	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtaatactggaattatCaatgatatgcactggtggag	12	13	11	5	0	1	1	1	1	0	0	1	3	1	3	0	3	2	2	0	3	6	4	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.3716C>A	p.Ser1239Ter	p.S1239*	ENST00000320370	17/17	262	220	42	267	266	1	strelka-varscan-mutect	SSFA2,stop_gained,p.Ser1239Ter,ENST00000320370,NM_006751.6;SSFA2,stop_gained,p.Ser184Ter,ENST00000451836,;SSFA2,3_prime_UTR_variant,,ENST00000431877,NM_001130445.2;SSFA2,3_prime_UTR_variant,,ENST00000409001,NM_001287503.1,NM_001287504.1;SSFA2,3_prime_UTR_variant,,ENST00000409136,;SSFA2,non_coding_transcript_exon_variant,,ENST00000467172,;SSFA2,3_prime_UTR_variant,,ENST00000440623,;SSFA2,3_prime_UTR_variant,,ENST00000416081,;SSFA2,3_prime_UTR_variant,,ENST00000454579,;SSFA2,non_coding_transcript_exon_variant,,ENST00000491720,;	A	ENST00000320370	Transcript	stop_gained	3828/4965	3716/3771	1239/1256	S/*	tCa/tAa		1		1	SSFA2	HGNC	HGNC:11319	protein_coding		CCDS2284.1	ENSP00000314669	P28290		UPI00000722F2	NM_006751.6			17/17																			HIGH		SNV	1			1										PASS		.	.												A	4	1	93	181929601	181929601	C	A	1	0	0	0	0	0	1	0	0	15559	838	29	2		2	SSFA2	2	181929601	Nonsense_Mutation	SNP	C	C3N-02155_TP	10868500	181929601	60263928	20	30530											
DNAH7	0	.	GRCh38	chr2	195775866	195775866	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgtaagaagaatgttatCaaatagcagctgagtttctg	13	13	10	5	0	2	3	1	1	1	2	2	3	2	3	0	0	2	5	0	0	6	4			C3N-02155_TP	C3N-02155_NB	C	C																c.11182G>C	p.Asp3728His	p.D3728H	ENST00000312428	60/65	228	193	35	174	174	0	strelka-varscan-mutect	DNAH7,missense_variant,p.Asp3728His,ENST00000312428,NM_018897.2;DNAH7,missense_variant,p.Asp211His,ENST00000409063,;	G	ENST00000312428	Transcript	missense_variant	11283/12394	11182/12075	3728/4024	D/H	Gat/Cat	COSM4521565	1		-1	DNAH7	HGNC	HGNC:18661	protein_coding	YES	CCDS42794.1	ENSP00000311273	Q8WXX0		UPI0000141B95	NM_018897.2	deleterious(0.04)		60/65		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF03028											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	93	195775866	195775866	C	G	1	0	0	0	0	1	0	0	0	4421	826	29	4		4	DNAH7	2	195775866	Missense_Mutation	SNP	C	C3N-02155_TP	13846265	195775866	46417663	21	30531											
CAPN10	0	.	GRCh38	chr2	240587026	240587026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccgctggcccagttccgcGaggacatcacgtggaggcgg	6	5	16	14	6	1	0	1	0	0	0	2	3	2	2	3	5	0	2	3	5	0	1	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.115G>A	p.Glu39Lys	p.E39K	ENST00000391984	1/12	154	123	31	88	88	0	strelka-varscan-mutect	CAPN10,missense_variant,p.Glu39Lys,ENST00000391984,NM_023083.3;CAPN10,missense_variant,p.Glu39Lys,ENST00000404753,;CAPN10,missense_variant,p.Glu39Lys,ENST00000354082,NM_023085.3;CAPN10,missense_variant,p.Glu39Lys,ENST00000270364,;CAPN10,missense_variant,p.Glu39Lys,ENST00000352879,;CAPN10,upstream_gene_variant,,ENST00000432084,;CAPN10-AS1,upstream_gene_variant,,ENST00000567819,;CAPN10,missense_variant,p.Glu39Lys,ENST00000416591,;CAPN10,missense_variant,p.Glu39Lys,ENST00000270361,;CAPN10,missense_variant,p.Glu39Lys,ENST00000391983,;CAPN10,missense_variant,p.Glu39Lys,ENST00000357048,;CAPN10,non_coding_transcript_exon_variant,,ENST00000463653,;CAPN10,upstream_gene_variant,,ENST00000494738,;	A	ENST00000391984	Transcript	missense_variant	311/2644	115/2019	39/672	E/K	Gag/Aag		1		1	CAPN10	HGNC	HGNC:1477	protein_coding	YES	CCDS42838.1	ENSP00000375844	Q9HC96		UPI00001AE96D	NM_023083.3	tolerated(0.13)		1/12		Pfam_domain:PF00648,PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF30,SMART_domains:SM00230,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	93	240587026	240587026	G	A	1	0	0	0	0	1	0	0	0	2315	1059	37	1		1	CAPN10	2	240587026	Missense_Mutation	SNP	G	C3N-02155_TP	44811160	240587026	1606503	22	30532											
SRGAP3	0	.	GRCh38	chr3	8994470	8994470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgaaggatagctcacGcggggaccgccccatgtagt	8	9	12	12	3	2	1	1	1	1	0	2	3	2	3	3	3	1	2	3	3	3	4			C3N-02155_TP	C3N-02155_NB	G	G																c.2281C>T	p.Arg761Cys	p.R761C	ENST00000383836	19/22	433	348	85	389	389	0	strelka-varscan-mutect	SRGAP3,missense_variant,p.Arg761Cys,ENST00000383836,NM_014850.3;SRGAP3,missense_variant,p.Arg737Cys,ENST00000360413,NM_001033117.2;SRGAP3,non_coding_transcript_exon_variant,,ENST00000520860,;SRGAP3,upstream_gene_variant,,ENST00000491467,;	A	ENST00000383836	Transcript	missense_variant	2709/8656	2281/3300	761/1099	R/C	Cgt/Tgt	COSM1048896,COSM4120520	1		-1	SRGAP3	HGNC	HGNC:19744	protein_coding	YES	CCDS2572.1	ENSP00000373347	O43295		UPI0000074099	NM_014850.3	deleterious(0)		19/22		PROSITE_profiles:PS50002,hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF8,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1033693138	.												A	3	1	93	8994470	8994470	G	A	1	0	0	0	0	1	0	0	0	15508	1087	38	1		1	SRGAP3	3	8994470	Missense_Mutation	SNP	G	C3N-02155_TP		8994470	189301089	23	30533											
MYH15	0	.	GRCh38	chr3	108437559	108437559	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaggtggcttacttcctCagctcttctgccaggtgtcg	7	12	11	11	1	3	1	1	0	2	1	5	1	4	1	2	3	3	2	2	3	2	3	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.3276G>A	p.=	p.L1092L	ENST00000273353	26/42	177	144	33	128	128	0	strelka-varscan-mutect	MYH15,synonymous_variant,p.=,ENST00000273353,NM_014981.1;MYH15,non_coding_transcript_exon_variant,,ENST00000478998,;	T	ENST00000273353	Transcript	synonymous_variant	3333/7074	3276/5841	1092/1946	L	ctG/ctA		1		-1	MYH15	HGNC	HGNC:31073	protein_coding	YES	CCDS43127.1	ENSP00000273353	Q9Y2K3		UPI0000253B6F	NM_014981.1			26/42		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF475,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	93	108437559	108437559	C	T	1	0	0	0	0	0	0	0	1	10034	840	29	3		3	MYH15	3	108437559	Silent	SNP	C	C3N-02155_TP	99443089	108437559	89858000	24	30534											
CCDC80	0	.	GRCh38	chr3	112638807	112638807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcaactgttaccgcccGggacgtggaccgagtcactg	8	7	13	13	4	1	0	1	0	0	0	1	3	1	2	3	2	4	3	3	2	2	1	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.1099C>T	p.Arg367Trp	p.R367W	ENST00000206423	2/8	459	399	60	330	330	0	strelka-varscan-mutect	CCDC80,missense_variant,p.Arg367Trp,ENST00000206423,NM_199511.2;CCDC80,missense_variant,p.Arg367Trp,ENST00000439685,NM_199512.2;CCDC80,upstream_gene_variant,,ENST00000461431,;CCDC80,downstream_gene_variant,,ENST00000475181,;CCDC80,downstream_gene_variant,,ENST00000480275,;CCDC80,downstream_gene_variant,,ENST00000469554,;CCDC80,downstream_gene_variant,,ENST00000473959,;	A	ENST00000206423	Transcript	missense_variant	2053/12430	1099/2853	367/950	R/W	Cgg/Tgg		1		-1	CCDC80	HGNC	HGNC:30649	protein_coding	YES	CCDS2968.1	ENSP00000206423	Q76M96		UPI000004EE7F	NM_199511.2	deleterious(0)		2/8		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1412000335	.												A	3	1	93	112638807	112638807	G	A	1	0	0	0	0	1	0	0	0	2552	1115	39	1		1	CCDC80	3	112638807	Missense_Mutation	SNP	G	C3N-02155_TP	4201248	112638807	85656752	25	30535											
HEG1	0	.	GRCh38	chr3	125013040	125013040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaggctgagaggtcttcaGaatggtagttgtgaaagttg	12	11	15	3	0	2	4	1	2	1	3	2	5	2	4	0	3	0	4	0	3	4	4			C3N-02155_TP	C3N-02155_NB	G	G																c.2539C>T	p.=	p.L847L	ENST00000311127	6/17	802	704	98	485	484	1	strelka-varscan-mutect	HEG1,synonymous_variant,p.=,ENST00000311127,NM_020733.1;HEG1,downstream_gene_variant,,ENST00000477536,;HEG1,upstream_gene_variant,,ENST00000488654,;	A	ENST00000311127	Transcript	synonymous_variant	2607/9156	2539/4146	847/1381	L	Ctg/Ttg	COSM4481737	1		-1	HEG1	HGNC	HGNC:29227	protein_coding	YES	CCDS46898.1	ENSP00000311502	Q9ULI3		UPI00006C069B	NM_020733.1			6/17		hmmpanther:PTHR24037:SF3,hmmpanther:PTHR24037											1						LOW	1	SNV	5		1	1										PASS		.	.												A	2	1	93	125013040	125013040	G	A	1	0	0	0	0	0	0	0	1	6926	933	33	3		3	HEG1	3	125013040	Silent	SNP	G	C3N-02155_TP	12374233	125013040	73282519	26	30536											
EEFSEC	0	.	GRCh38	chr3	128341298	128341298	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acttcagccatgcaaggagaCcggctgggcatctgcgtcac	9	7	12	13	2	3	1	2	0	1	1	3	2	3	1	2	3	3	3	2	3	1	1	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.852C>G	p.Asp284Glu	p.D284E	ENST00000254730	5/7	288	254	34	172	172	0	strelka-varscan-mutect	EEFSEC,missense_variant,p.Asp284Glu,ENST00000254730,NM_021937.4;EEFSEC,missense_variant,p.Asp229Glu,ENST00000483457,;EEFSEC,non_coding_transcript_exon_variant,,ENST00000483569,;EEFSEC,non_coding_transcript_exon_variant,,ENST00000484438,;	G	ENST00000254730	Transcript	missense_variant	906/2232	852/1791	284/596	D/E	gaC/gaG		1		1	EEFSEC	HGNC	HGNC:24614	protein_coding	YES	CCDS33849.1	ENSP00000254730	P57772		UPI000013CE58	NM_021937.4	deleterious(0)		5/7		Gene3D:2.40.30.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF91,Superfamily_domains:SSF50447																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	93	128341298	128341298	C	G	1	0	0	0	0	1	0	0	0	4762	506	18	4		4	EEFSEC	3	128341298	Missense_Mutation	SNP	C	C3N-02155_TP	3328258	128341298	69954261	27	30537											
MED12L	0	.	GRCh38	chr3	151355217	151355217	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcctttcatattttgAtcaacatcaagtgacatctc	11	14	4	12	0	4	2	3	2	1	0	6	2	5	2	2	0	2	1	2	0	3	4	novel		C3N-02155_TP	C3N-02155_NB	A	A																c.2390A>T	p.Asp797Val	p.D797V	ENST00000474524	16/43	256	215	41	212	212	0	strelka-varscan-mutect	MED12L,missense_variant,p.Asp797Val,ENST00000474524,NM_053002.5;MED12L,missense_variant,p.Asp657Val,ENST00000273432,;P2RY12,intron_variant,,ENST00000302632,NM_176876.2,NM_022788.4;MED12L,non_coding_transcript_exon_variant,,ENST00000491549,;MED12L,downstream_gene_variant,,ENST00000468305,;	T	ENST00000474524	Transcript	missense_variant	2428/10744	2390/6438	797/2145	D/V	gAt/gTt		1		1	MED12L	HGNC	HGNC:16050	protein_coding	YES	CCDS33876.1	ENSP00000417235	Q86YW9		UPI000020A46B	NM_053002.5	deleterious(0)		16/43		hmmpanther:PTHR13992:SF22,hmmpanther:PTHR13992																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	93	151355217	151355217	A	T	1	0	0	0	0	1	0	0	0	9368	333	12	4		4	MED12L	3	151355217	Missense_Mutation	SNP	A	C3N-02155_TP	23013919	151355217	46940342	28	30538											
PPM1L	0	.	GRCh38	chr3	161065516	161065516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctattcctttgtctcatGatcacaagccttaccagttg	9	14	6	12	1	2	1	2	1	1	0	4	1	3	1	3	0	2	2	3	0	3	5	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.688G>T	p.Asp230Tyr	p.D230Y	ENST00000498165	3/4	346	298	48	184	184	0	strelka-varscan-mutect	PPM1L,missense_variant,p.Asp230Tyr,ENST00000498165,NM_001317911.1,NM_001317912.1,NM_139245.2;PPM1L,missense_variant,p.Asp51Tyr,ENST00000464260,;PPM1L,missense_variant,p.Asp103Tyr,ENST00000295839,;PPM1L,non_coding_transcript_exon_variant,,ENST00000480117,;	T	ENST00000498165	Transcript	missense_variant	789/10934	688/1083	230/360	D/Y	Gat/Tat		1		1	PPM1L	HGNC	HGNC:16381	protein_coding	YES	CCDS33886.1	ENSP00000417659	Q5SGD2		UPI000046F91B	NM_001317911.1,NM_001317912.1,NM_139245.2	deleterious(0)		3/4		PROSITE_profiles:PS51746,hmmpanther:PTHR13832:SF290,hmmpanther:PTHR13832,Pfam_domain:PF00481,Gene3D:3.60.40.10,SMART_domains:SM00331,SMART_domains:SM00332,Superfamily_domains:SSF81606																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	93	161065516	161065516	G	T	1	0	0	0	0	1	0	0	0	12454	1290	45	2		2	PPM1L	3	161065516	Missense_Mutation	SNP	G	C3N-02155_TP	9710299	161065516	37230043	29	30539											
PHC3	0	.	GRCh38	chr3	170117375	170117375	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actccttgtggtggcagctgGaagtaacaatggaggtggtg	9	10	16	6	0	0	0	0	0	0	0	1	2	1	2	1	6	2	3	1	6	3	2	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.2044C>G	p.Pro682Ala	p.P682A	ENST00000495893	10/15	490	410	80	356	356	0	strelka-varscan-mutect	PHC3,missense_variant,p.Pro682Ala,ENST00000495893,NM_024947.3;PHC3,missense_variant,p.Pro670Ala,ENST00000494943,NM_001308116.1;PHC3,missense_variant,p.Pro629Ala,ENST00000467570,;PHC3,missense_variant,p.Pro144Ala,ENST00000486042,;	C	ENST00000495893	Transcript	missense_variant	2076/12666	2044/2988	682/995	P/A	Cca/Gca		1		-1	PHC3	HGNC	HGNC:15682	protein_coding	YES	CCDS46952.1	ENSP00000420294	Q8NDX5		UPI00004DF1A6	NM_024947.3	deleterious(0.02)		10/15		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF88,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1470192058	.												C	3	2	93	170117375	170117375	G	C	1	0	0	0	0	1	0	0	0	11907	1174	41	4		4	PHC3	3	170117375	Missense_Mutation	SNP	G	C3N-02155_TP	9051859	170117375	28178184	30	30540											
KLHL24	0	.	GRCh38	chr3	183650555	183650555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatagccgcttattcacaGatgttatcatttgtgtggaa	10	15	10	6	1	2	2	2	1	0	1	2	3	2	3	1	1	1	2	1	1	4	5	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.199G>A	p.Asp67Asn	p.D67N	ENST00000454652	4/9	376	328	48	256	256	0	strelka-varscan-mutect	KLHL24,missense_variant,p.Asp67Asn,ENST00000454652,NM_017644.3;KLHL24,missense_variant,p.Asp67Asn,ENST00000242810,;KLHL24,missense_variant,p.Asp67Asn,ENST00000476808,;KLHL24,missense_variant,p.Asp67Asn,ENST00000493074,;KLHL24,missense_variant,p.Asp67Asn,ENST00000468001,;KLHL24,missense_variant,p.Asp67Asn,ENST00000454495,;KLHL24,missense_variant,p.Asp67Asn,ENST00000482138,;KLHL24,missense_variant,p.Asp67Asn,ENST00000468101,;KLHL24,missense_variant,p.Asp67Asn,ENST00000427201,;KLHL24,missense_variant,p.Asp67Asn,ENST00000473045,;KLHL24,downstream_gene_variant,,ENST00000437402,;KLHL24,intron_variant,,ENST00000475827,;	A	ENST00000454652	Transcript	missense_variant	585/7380	199/1803	67/600	D/N	Gat/Aat		1		1	KLHL24	HGNC	HGNC:25947	protein_coding	YES	CCDS3246.1	ENSP00000395012	Q6TFL4		UPI000020A86F	NM_017644.3	deleterious(0)		4/9		Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF257,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	93	183650555	183650555	G	A	1	0	0	0	0	1	0	0	0	8243	942	33	3		3	KLHL24	3	183650555	Missense_Mutation	SNP	G	C3N-02155_TP	13533180	183650555	14645004	31	30541											
TBC1D1	0	.	GRCh38	chr4	38115874	38115874	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttcatatgagtgaggaaGaggcgtttaaaatgctcaag	13	12	11	5	1	3	3	2	2	1	1	3	4	3	4	0	2	1	2	0	2	5	5			C3N-02155_TP	C3N-02155_NB	G	G																c.2722G>C	p.Glu908Gln	p.E908Q	ENST00000261439	16/20	524	461	63	407	407	0	strelka-varscan	TBC1D1,missense_variant,p.Glu908Gln,ENST00000261439,NM_015173.3;TBC1D1,missense_variant,p.Glu1002Gln,ENST00000508802,NM_001253912.1;TBC1D1,missense_variant,p.Glu596Gln,ENST00000510573,;TBC1D1,missense_variant,p.Glu172Gln,ENST00000615497,;TBC1D1,non_coding_transcript_exon_variant,,ENST00000407365,;TBC1D1,non_coding_transcript_exon_variant,,ENST00000401554,;TBC1D1,upstream_gene_variant,,ENST00000406664,;TBC1D1,non_coding_transcript_exon_variant,,ENST00000511238,;TBC1D1,upstream_gene_variant,,ENST00000475531,;	C	ENST00000261439	Transcript	missense_variant	3077/5700	2722/3507	908/1168	E/Q	Gag/Cag	COSM5344704	1		1	TBC1D1	HGNC	HGNC:11578	protein_coding	YES	CCDS33972.1	ENSP00000261439	Q86TI0	B9A6J6	UPI0000367235	NM_015173.3	tolerated(1)		16/20		PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF204,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	93	38115874	38115874	G	C	1	0	0	0	0	1	0	0	0	15997	943	33	4		4	TBC1D1	4	38115874	Missense_Mutation	SNP	G	C3N-02155_TP		38115874	152098681	32	30542											
WDFY3	0	.	GRCh38	chr4	84678189	84678190	+	In_Frame_Ins	INS	-	-	CCT																															ggagatgcccaaggcagtgaINScctcagctgggtgtgcattg																								novel		C3N-02155_TP	C3N-02155_NB	-	-																c.10235_10237dupAGG	p.Glu3412dup	p.E3412dup	ENST00000295888	66/68	250	209	41	153	153	0	sindel-pindel	WDFY3,inframe_insertion,p.Glu3412dup,ENST00000295888,NM_014991.4;WDFY3,non_coding_transcript_exon_variant,,ENST00000425179,;	CCT	ENST00000295888	Transcript	inframe_insertion	10645-10646/14247	10237-10238/10581	3413/3526	V/EV	gtc/gAGGtc		1		-1	WDFY3	HGNC	HGNC:20751	protein_coding	YES	CCDS3609.1	ENSP00000295888	Q8IZQ1	A0A024RDI0	UPI000013E2C7	NM_014991.4			66/68		hmmpanther:PTHR13743:SF80,hmmpanther:PTHR13743,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978																	MODERATE	1	insertion	1			1										PASS		.	.												CCT	7	5	93	84678189	84678189	-	CCT	1	0	1	1	0	0	0	0	0	17830	275	10	0		0	WDFY3	4	84678189	In_Frame_Ins	INS	-	C3N-02155_TP	46562315	84678189	105536366	33	30543											
KIAA0922	0	.	GRCh38	chr4	153602552	153602552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattttcaggttcactccaGactttacctcctcctgggta	7	16	6	12	0	2	1	2	0	0	1	5	1	5	1	4	2	1	2	4	2	3	7	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.2464G>C	p.Asp822His	p.D822H	ENST00000409959	23/35	225	194	31	167	167	0	strelka-varscan-mutect	KIAA0922,missense_variant,p.Asp821His,ENST00000409663,NM_015196.3;KIAA0922,missense_variant,p.Asp822His,ENST00000409959,NM_001131007.1;KIAA0922,missense_variant,p.Asp599His,ENST00000240487,;KIAA0922,non_coding_transcript_exon_variant,,ENST00000497247,;	C	ENST00000409959	Transcript	missense_variant	2513/5017	2464/4833	822/1610	D/H	Gac/Cac		1		1	KIAA0922	HGNC	HGNC:29146	protein_coding	YES	CCDS47148.1	ENSP00000386787	A2VDJ0		UPI00017BE9AB	NM_001131007.1	deleterious(0)		23/35		hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF2																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	93	153602552	153602552	G	C	1	0	0	0	0	1	0	0	0	8095	942	33	4		4	KIAA0922	4	153602552	Missense_Mutation	SNP	G	C3N-02155_TP	68924363	153602552	36612003	34	30544											
GUCY1B3	0	.	GRCh38	chr4	155759798	155759798	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccccgcagtacggatttgtGaatcacgccctggagttgct	7	11	11	12	3	1	1	1	1	0	0	2	3	2	3	3	2	2	4	3	2	2	3	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.15G>C	p.=	p.V5V	ENST00000502959	2/15	243	216	27	145	145	0	strelka-mutect	GUCY1B3,synonymous_variant,p.=,ENST00000264424,NM_000857.3;GUCY1B3,synonymous_variant,p.=,ENST00000502959,NM_001291951.1;GUCY1B3,synonymous_variant,p.=,ENST00000503520,NM_001291954.1;GUCY1B3,5_prime_UTR_variant,,ENST00000507146,NM_001291953.1;GUCY1B3,5_prime_UTR_variant,,ENST00000505764,NM_001291952.1;GUCY1B3,5_prime_UTR_variant,,ENST00000513437,;GUCY1B3,intron_variant,,ENST00000505154,NM_001291955.1;	C	ENST00000502959	Transcript	synonymous_variant	135/2255	15/1926	5/641	V	gtG/gtC		1		1	GUCY1B3	HGNC	HGNC:4687	protein_coding	YES	CCDS77975.1	ENSP00000426786		E9PCN2	UPI0001D3B9A4	NM_001291951.1			2/15		hmmpanther:PTHR11920:SF318,hmmpanther:PTHR11920,Pfam_domain:PF07700,Gene3D:3sj5A00,Superfamily_domains:SSF111126																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	93	155759798	155759798	G	C	1	0	0	0	0	0	0	0	1	6777	1277	45	4		4	GUCY1B3	4	155759798	Silent	SNP	G	C3N-02155_TP	2157246	155759798	34454757	35	30545											
PPID	0	.	GRCh38	chr4	158723232	158723232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgatgtccacgtcaaaGaagactcgagggttactggg	10	8	12	11	3	1	2	1	0	0	2	4	4	3	2	3	2	1	1	3	2	3	1	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.57C>A	p.Phe19Leu	p.F19L	ENST00000307720	1/10	547	444	103	339	339	0	strelka-varscan-mutect	PPID,missense_variant,p.Phe19Leu,ENST00000307720,NM_005038.2;	T	ENST00000307720	Transcript	missense_variant	165/1823	57/1113	19/370	F/L	ttC/ttA		1		-1	PPID	HGNC	HGNC:9257	protein_coding	YES	CCDS3801.1	ENSP00000303754	Q08752	E5KN55	UPI0000128C6B	NM_005038.2	deleterious(0)		1/10		Gene3D:2.40.100.10,PROSITE_profiles:PS50072,hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF247,Superfamily_domains:SSF50891																	MODERATE	1	SNV	1			1										PASS		rs1450954192	.												T	3	4	93	158723232	158723232	G	T	1	0	0	0	0	1	0	0	0	12432	933	33	2		2	PPID	4	158723232	Missense_Mutation	SNP	G	C3N-02155_TP	2963434	158723232	31491323	36	30546											
MARCH1	0	.	GRCh38	chr4	163854060	163854060	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgtcagccaaatcccctgaGatctcgggtgttcgcgtgtt	6	11	12	12	4	2	1	1	1	1	1	5	2	3	1	3	1	1	2	3	1	1	2	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.72C>G	p.Ile24Met	p.I24M	ENST00000503008	3/8	273	228	45	237	237	0	strelka-varscan-mutect	MARCH1,missense_variant,p.Ile24Met,ENST00000503008,NM_001166373.1;MARCH1,missense_variant,p.Ile24Met,ENST00000274056,;MARCH1,missense_variant,p.Ile24Met,ENST00000514618,;MARCH1,missense_variant,p.Ile24Met,ENST00000507270,;MARCH1,non_coding_transcript_exon_variant,,ENST00000503104,;MARCH1,intron_variant,,ENST00000510696,;	C	ENST00000503008	Transcript	missense_variant	1049/5877	72/870	24/289	I/M	atC/atG		1		-1	MARCH1	HGNC	HGNC:26077	protein_coding	YES	CCDS54814.1	ENSP00000427223	Q8TCQ1		UPI0000037BB3	NM_001166373.1	tolerated_low_confidence(0.13)		3/8		hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF53																	MODERATE	1	SNV	1			1										PASS		rs993664301	.												C	3	2	93	163854060	163854060	G	C	1	0	0	0	0	1	0	0	0	9223	932	33	4		4	MARCH1	4	163854060	Missense_Mutation	SNP	G	C3N-02155_TP	5130828	163854060	26360495	37	30547											
TLL1	0	.	GRCh38	chr4	165989416	165989416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atattgccttagatgatgaaGacttaaatatctttcaaata	16	15	5	5	0	2	4	1	2	1	2	2	4	2	4	1	0	1	0	1	0	8	7	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.205G>A	p.Asp69Asn	p.D69N	ENST00000061240	2/21	452	389	63	355	355	0	strelka-varscan-mutect	TLL1,missense_variant,p.Asp69Asn,ENST00000061240,NM_012464.4;TLL1,missense_variant,p.Asp69Asn,ENST00000507499,;TLL1,missense_variant,p.Asp69Asn,ENST00000513213,NM_001204760.1;TLL1,5_prime_UTR_variant,,ENST00000506144,;TLL1,missense_variant,p.Asp69Asn,ENST00000509505,;TLL1,3_prime_UTR_variant,,ENST00000504560,;	A	ENST00000061240	Transcript	missense_variant	852/6708	205/3042	69/1013	D/N	Gac/Aac		1		1	TLL1	HGNC	HGNC:11843	protein_coding	YES	CCDS3811.1	ENSP00000061240	O43897		UPI0000072EED	NM_012464.4	deleterious_low_confidence(0)		2/21		PIRSF_domain:PIRSF001199,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	93	165989416	165989416	G	A	1	0	0	0	0	1	0	0	0	16391	942	33	3		3	TLL1	4	165989416	Missense_Mutation	SNP	G	C3N-02155_TP	2135356	165989416	24225139	38	30548											
DHX29	0	.	GRCh38	chr5	55290229	55290229	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtttacctctttgaaatTtccttattttttcctgagcc	7	20	5	9	0	1	2	0	2	1	0	3	2	3	2	4	0	2	1	4	0	3	8	rs367664398		C3N-02155_TP	C3N-02155_NB	T	T																c.896A>C	p.Lys299Thr	p.K299T	ENST00000251636	7/27	175	124	51	160	160	0	strelka-varscan	DHX29,missense_variant,p.Lys299Thr,ENST00000251636,NM_019030.2;DHX29,missense_variant,p.Lys299Thr,ENST00000621106,;RP11-506H20.1,intron_variant,,ENST00000506435,;DHX29,non_coding_transcript_exon_variant,,ENST00000504778,;	G	ENST00000251636	Transcript	missense_variant	1045/4502	896/4110	299/1369	K/T	aAa/aCa	rs367664398	1		-1	DHX29	HGNC	HGNC:15815	protein_coding	YES	CCDS34158.1	ENSP00000251636	Q7Z478		UPI00001AE72C	NM_019030.2	tolerated(0.55)		7/27		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	93	55290229	55290229	T	G	1	0	0	0	0	1	0	0	0	4307	1841	64	5		5	DHX29	5	55290229	Missense_Mutation	SNP	T	C3N-02155_TP		55290229	126248030	39	30549											
FBN2	0	.	GRCh38	chr5	128301432	128301432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaccttcgttacatagaCacttgaaagaaccaatttca	16	11	4	10	1	1	3	1	1	0	2	2	3	1	3	2	0	3	1	2	0	6	6	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.5996G>A	p.Cys1999Tyr	p.C1999Y	ENST00000508053	53/71	513	358	155	444	444	0	strelka-varscan-mutect	FBN2,missense_variant,p.Cys1999Tyr,ENST00000508053,;FBN2,missense_variant,p.Cys1999Tyr,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Cys1998Tyr,ENST00000619499,;	T	ENST00000508053	Transcript	missense_variant	6971/11132	5996/8739	1999/2912	C/Y	tGt/tAt		1		-1	FBN2	HGNC	HGNC:3604	protein_coding	YES	CCDS34222.1	ENSP00000424571	P35556		UPI0000519468		deleterious(0)		53/71		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS00010,PROSITE_patterns:PS01186,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF26,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	93	128301432	128301432	C	T	1	0	0	0	0	1	0	0	0	5566	478	17	3		3	FBN2	5	128301432	Missense_Mutation	SNP	C	C3N-02155_TP	73011203	128301432	53236827	40	30550											
TRPC7	0	.	GRCh38	chr5	136213497	136213497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagttctttccaaacttctCgctgagttgttgaatcaggt	9	16	8	8	1	3	2	1	2	2	0	5	2	4	2	1	1	1	4	1	1	3	6	rs748677264		C3N-02155_TP	C3N-02155_NB	C	C																c.2527G>A	p.Glu843Lys	p.E843K	ENST00000513104	12/12	426	301	125	352	352	0	strelka-varscan-mutect	TRPC7,missense_variant,p.Glu843Lys,ENST00000513104,NM_020389.2;TRPC7,missense_variant,p.Glu788Lys,ENST00000502753,;TRPC7,missense_variant,p.Glu782Lys,ENST00000378459,NM_001167577.1;TRPC7,missense_variant,p.Glu727Lys,ENST00000352189,NM_001167576.1;TRPC7-AS1,upstream_gene_variant,,ENST00000514459,;TRPC7,3_prime_UTR_variant,,ENST00000503275,;TRPC7,3_prime_UTR_variant,,ENST00000514963,;TRPC7,non_coding_transcript_exon_variant,,ENST00000509288,;	T	ENST00000513104	Transcript	missense_variant	2810/2987	2527/2589	843/862	E/K	Gag/Aag	rs748677264,COSM1061076,COSM1061078	1		-1	TRPC7	HGNC	HGNC:20754	protein_coding	YES	CCDS47267.2	ENSP00000426070	Q9HCX4		UPI000004F27A	NM_020389.2	tolerated(0.13)		12/12		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9											0,1,1						MODERATE		SNV	5		0,1,1	1										PASS		rs748677264	.												T	3	4	93	136213497	136213497	C	T	1	0	0	0	0	1	0	0	0	17090	893	31	1		1	TRPC7	5	136213497	Missense_Mutation	SNP	C	C3N-02155_TP	7912065	136213497	45324762	41	30551											
PCDHA9	0	.	GRCh38	chr5	140848652	140848652	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgcatcgcgcaggacctgGggctggagctggcggagctg	5	5	19	12	4	0	0	0	0	0	0	1	3	0	3	2	6	2	5	2	6	0	0	rs782279622		C3N-02155_TP	C3N-02155_NB	G	G																c.157G>C	p.Gly53Arg	p.G53R	ENST00000532602	1/4	636	538	98	470	470	0	strelka-varscan-mutect	PCDHA9,missense_variant,p.Gly53Arg,ENST00000378122,NM_014005.4;PCDHA9,missense_variant,p.Gly53Arg,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA8,downstream_gene_variant,,ENST00000378123,NM_031856.1;AC005609.19,downstream_gene_variant,,ENST00000623320,;	C	ENST00000532602	Transcript	missense_variant	1190/6293	157/2853	53/950	G/R	Ggg/Cgg	rs782279622,COSM5688014,COSM5688015	1		1	PCDHA9	HGNC	HGNC:8675	protein_coding	YES	CCDS54920.1	ENSP00000436042	Q9Y5H5		UPI00001273D1	NM_031857.1	deleterious_low_confidence(0.02)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,Gene3D:2.60.40.60,Pfam_domain:PF08266,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs782279622	.												C	3	2	93	140848652	140848652	G	C	1	0	0	0	0	1	0	0	0	11618	1232	43	4		4	PCDHA9	5	140848652	Missense_Mutation	SNP	G	C3N-02155_TP	4635155	140848652	40689607	42	30552											
PCDHB7	0	.	GRCh38	chr5	141175138	141175138	+	Frame_Shift_Del	DEL	T	T	-																															gttcaagtttctgaaaccaaTtatccccaacctgctacccc																								rs782568457		C3N-02155_TP	C3N-02155_NB	T	T																c.2304delT	p.Ile769SerfsTer36	p.I769Sfs*36	ENST00000231137	1/1	299	254	45	246	246	0	sindel-varindel-pindel	PCDHB7,frameshift_variant,p.Ile769SerfsTer36,ENST00000231137,NM_018940.3;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.4;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,upstream_gene_variant,,ENST00000625128,;AC005754.7,upstream_gene_variant,,ENST00000624802,;CH17-140K24.4,upstream_gene_variant,,ENST00000623995,;	-	ENST00000231137	Transcript	frameshift_variant	2520/3765	2303/2382	768/793	I/X	aTt/at	rs782568457	1		1	PCDHB7	HGNC	HGNC:8692	protein_coding	YES	CCDS4249.1	ENSP00000231137	Q9Y5E2		UPI00001273E3	NM_018940.3			1/1		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69																	HIGH		deletion		1		1										PASS		.	.												-	7	5	93	141175138	141175138	T	-	1	0	1	0	1	0	0	0	0	11634	1493	52	0		0	PCDHB7	5	141175138	Frame_Shift_Del	DEL	T	C3N-02155_TP	326486	141175138	40363121	43	30553											
PFN3	0	.	GRCh38	chr5	177400277	177400277	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgcgcggcgcacggccCacgcacacggcgcgcgcgtc	5	1	16	19	12	0	0	0	0	0	0	1	0	0	0	1	3	1	2	1	3	0	0	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.300G>C	p.=	p.V100V	ENST00000358571	1/1	382	326	56	196	196	0	strelka-varscan-mutect	PFN3,synonymous_variant,p.=,ENST00000358571,NM_001029886.2;SLC34A1,downstream_gene_variant,,ENST00000324417,NM_003052.4;F12,downstream_gene_variant,,ENST00000253496,NM_000505.3;GRK6,upstream_gene_variant,,ENST00000506296,;GRK6,upstream_gene_variant,,ENST00000502598,;SLC34A1,downstream_gene_variant,,ENST00000513614,;F12,downstream_gene_variant,,ENST00000514943,;SLC34A1,downstream_gene_variant,,ENST00000507685,;F12,downstream_gene_variant,,ENST00000510358,;F12,downstream_gene_variant,,ENST00000502854,;F12,downstream_gene_variant,,ENST00000504406,;F12,downstream_gene_variant,,ENST00000503736,;	G	ENST00000358571	Transcript	synonymous_variant	360/530	300/414	100/137	V	gtG/gtC		1		-1	PFN3	HGNC	HGNC:18627	protein_coding	YES	CCDS34301.1	ENSP00000351379	P60673		UPI000019788D	NM_001029886.2			1/1		hmmpanther:PTHR13936,hmmpanther:PTHR13936:SF2,Gene3D:3.30.450.30,Pfam_domain:PF00235,SMART_domains:SM00392,Superfamily_domains:SSF55770																	LOW		SNV				1										PASS		rs1463818621	.												G	2	3	93	177400277	177400277	C	G	1	0	0	0	0	0	0	0	1	11859	581	21	4		4	PFN3	5	177400277	Silent	SNP	C	C3N-02155_TP	36225139	177400277	4137982	44	30554											
FLT4	0	.	GRCh38	chr5	180621866	180621866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggccctctagtagctcctCggatggcttggattcgatgg	5	12	13	11	2	1	0	0	0	1	0	4	3	2	2	2	5	1	3	2	5	2	4	rs757667364		C3N-02155_TP	C3N-02155_NB	C	C																c.1696G>A	p.Glu566Lys	p.E566K	ENST00000261937	13/30	269	236	33	136	135	1	strelka-varscan-mutect	FLT4,missense_variant,p.Glu566Lys,ENST00000261937,NM_182925.4;FLT4,missense_variant,p.Glu566Lys,ENST00000393347,NM_002020.4;FLT4,missense_variant,p.Glu566Lys,ENST00000502649,;FLT4,3_prime_UTR_variant,,ENST00000619105,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,non_coding_transcript_exon_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;	T	ENST00000261937	Transcript	missense_variant	1775/5857	1696/4092	566/1363	E/K	Gag/Aag	rs757667364	1		-1	FLT4	HGNC	HGNC:3767	protein_coding	YES	CCDS4457.1	ENSP00000261937	P35916		UPI00001488E7	NM_182925.4	tolerated(0.18)		13/30		PROSITE_profiles:PS50835,hmmpanther:PTHR24416:SF49,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs757667364	.												T	3	4	93	180621866	180621866	C	T	1	0	0	0	0	1	0	0	0	5800	893	31	1		1	FLT4	5	180621866	Missense_Mutation	SNP	C	C3N-02155_TP	3221589	180621866	916393	45	30555											
C6orf201	0	.	GRCh38	chr6	4121959	4121959	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatccaaaagaaaacttattCaaaaaaatgtacccagaaga	22	8	4	7	0	1	3	1	0	0	3	2	3	2	3	2	0	2	1	2	0	11	4	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.295C>T	p.Gln99Ter	p.Q99*	ENST00000380175	4/6	184	159	25	141	141	0	strelka-varscan-mutect	C6orf201,stop_gained,p.Gln99Ter,ENST00000380175,NM_001085401.2;ECI2,intron_variant,,ENST00000465828,;ECI2,intron_variant,,ENST00000380118,NM_206836.2;ECI2,intron_variant,,ENST00000380125,NM_001166010.1;ECI2,intron_variant,,ENST00000361538,NM_006117.2;C6orf201,non_coding_transcript_exon_variant,,ENST00000496987,;C6orf201,stop_gained,p.Gln102Ter,ENST00000427996,;C6orf201,stop_gained,p.Gln99Ter,ENST00000451679,;C6orf201,3_prime_UTR_variant,,ENST00000436110,;ECI2,intron_variant,,ENST00000464583,;ECI2,intron_variant,,ENST00000464057,;ECI2,intron_variant,,ENST00000380120,;ECI2,intron_variant,,ENST00000496241,;ECI2,intron_variant,,ENST00000478266,;	T	ENST00000380175	Transcript	stop_gained	1060/1834	295/423	99/140	Q/*	Caa/Taa		1		1	C6orf201	HGNC	HGNC:21620	protein_coding	YES	CCDS43419.1	ENSP00000420610	Q7Z4U5		UPI00004573AE	NM_001085401.2			4/6		Pfam_domain:PF15023,hmmpanther:PTHR35968,hmmpanther:PTHR35968:SF1																	HIGH	1	SNV	1			1										PASS		rs1438775096	.												T	4	4	93	4121959	4121959	C	T	1	0	0	0	0	0	1	0	0	2122	827	29	3		3	C6orf201	6	4121959	Nonsense_Mutation	SNP	C	C3N-02155_TP		4121959	166684020	46	30556											
DSP	0	.	GRCh38	chr6	7585480	7585480	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggaggtcttgttgacccgGaagtgcatgggaggataagc	9	8	17	7	2	1	1	0	1	1	0	1	5	1	5	1	5	2	2	1	5	2	3	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.8218G>T	p.Glu2740Ter	p.E2740*	ENST00000379802	24/24	472	408	64	314	314	0	strelka-varscan-mutect	DSP,stop_gained,p.Glu2740Ter,ENST00000379802,NM_004415.2;DSP,stop_gained,p.Glu2141Ter,ENST00000418664,NM_001008844.1;SNRNP48,upstream_gene_variant,,ENST00000342415,NM_152551.3;SNRNP48,upstream_gene_variant,,ENST00000634363,;	T	ENST00000379802	Transcript	stop_gained	8559/9796	8218/8616	2740/2871	E/*	Gaa/Taa		1		1	DSP	HGNC	HGNC:3052	protein_coding	YES	CCDS4501.1	ENSP00000369129	P15924		UPI000013C67F	NM_004415.2			24/24		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF234,Pfam_domain:PF00681,Gene3D:3.90.1290.10,SMART_domains:SM00250,Superfamily_domains:SSF75399																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	93	7585480	7585480	G	T	1	0	0	0	0	0	1	0	0	4602	1175	41	2		2	DSP	6	7585480	Nonsense_Mutation	SNP	G	C3N-02155_TP	3463521	7585480	163220499	47	30557											
OR14J1	0	.	GRCh38	chr6	29307413	29307413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccacctgcctaccaCacctatttgtagccaccttc	7	13	3	18	0	2	0	0	0	2	0	4	0	2	0	7	0	3	1	7	0	3	6	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.724C>A	p.His242Asn	p.H242N	ENST00000377160	1/1	660	587	73	361	360	1	strelka-varscan-mutect	OR14J1,missense_variant,p.His242Asn,ENST00000377160,NM_030946.1;	A	ENST00000377160	Transcript	missense_variant	724/966	724/966	242/321	H/N	Cac/Aac		1		1	OR14J1	HGNC	HGNC:13971	protein_coding	YES	CCDS34362.1	ENSP00000366365	Q9UGF5	A0A126GW10	UPI0000041CEC	NM_030946.1	deleterious(0)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF42,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	93	29307413	29307413	C	A	1	0	0	0	0	1	0	0	0	11025	478	17	2		2	OR14J1	6	29307413	Missense_Mutation	SNP	C	C3N-02155_TP	21721933	29307413	141498566	48	30558											
EHMT2	0	.	GRCh38	chr6	31892528	31892528	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctttcgtcagggtcactTctcctgaacgccgggcagaa	7	9	10	15	3	3	2	2	1	1	1	5	2	3	2	4	2	1	1	4	2	2	2	novel		C3N-02155_TP	C3N-02155_NB	T	T																c.914A>G	p.Glu305Gly	p.E305G	ENST00000375528	6/26	327	272	55	226	225	1	strelka-varscan-mutect	EHMT2,missense_variant,p.Glu305Gly,ENST00000395728,;EHMT2,missense_variant,p.Glu305Gly,ENST00000375528,NM_001289413.1;EHMT2,missense_variant,p.Glu248Gly,ENST00000375537,NM_006709.4;EHMT2,missense_variant,p.Glu248Gly,ENST00000375530,NM_025256.6;EHMT2,non_coding_transcript_exon_variant,,ENST00000480912,;EHMT2,non_coding_transcript_exon_variant,,ENST00000463484,;EHMT2,downstream_gene_variant,,ENST00000465429,;	C	ENST00000375528	Transcript	missense_variant	934/4047	914/3702	305/1233	E/G	gAa/gGa		1		-1	EHMT2	HGNC	HGNC:14129	protein_coding	YES	CCDS75425.1	ENSP00000364678		A2ABF8	UPI0000E5AD1F	NM_001289413.1	deleterious_low_confidence(0.05)		6/26		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF361																	MODERATE	1	SNV	2			1										PASS		rs774225501	.												C	3	2	93	31892528	31892528	T	C	1	0	0	0	0	1	0	0	0	4820	1783	62	5		5	EHMT2	6	31892528	Missense_Mutation	SNP	T	C3N-02155_TP	2585115	31892528	138913451	49	30559											
TNXB	0	.	GRCh38	chr6	32055855	32055855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcacaaacactcacctgtCacacccacggtggacaccgg	12	5	7	17	2	3	0	3	0	0	0	3	1	3	1	3	3	1	0	3	3	1	0	rs566861372		C3N-02155_TP	C3N-02155_NB	C	C																c.8463G>A	p.=	p.V2821V	ENST00000375244	24/44	100	88	12	52	52	0	strelka-varscan-mutect	TNXB,synonymous_variant,p.=,ENST00000375244,NM_019105.6;TNXB,synonymous_variant,p.=,ENST00000611016,;	T	ENST00000375244	Transcript	synonymous_variant	8665/13132	8463/12735	2821/4244	V	gtG/gtA	rs566861372	1		-1	TNXB	HGNC	HGNC:11976	protein_coding			ENSP00000364393	P22105	E7EPZ9	UPI0001B798E9	NM_019105.6			24/44		PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF244,Gene3D:2.60.40.10,Superfamily_domains:SSF49265																	LOW	1	SNV	5			1										PASS		rs566861372	.												T	2	4	93	32055855	32055855	C	T	1	0	0	0	0	0	0	0	1	16820	840	29	3		3	TNXB	6	32055855	Silent	SNP	C	C3N-02155_TP	163327	32055855	138750124	50	30560											
KHDRBS2	0	.	GRCh38	chr6	62047915	62047915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatcctttgcccaggataGacattttagcacctgtttct	8	16	7	10	0	1	2	0	1	1	1	2	3	2	3	3	1	2	2	3	1	2	6	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.299C>T	p.Ser100Phe	p.S100F	ENST00000281156	3/9	435	389	46	294	294	0	strelka-varscan-mutect	KHDRBS2,missense_variant,p.Ser100Phe,ENST00000281156,NM_152688.2;	A	ENST00000281156	Transcript	missense_variant	578/2332	299/1050	100/349	S/F	tCt/tTt		1		-1	KHDRBS2	HGNC	HGNC:18114	protein_coding	YES	CCDS4963.1	ENSP00000281156	Q5VWX1		UPI000004D256	NM_152688.2	deleterious(0)		3/9		Gene3D:3.30.1370.10,Pfam_domain:PF00013,PROSITE_profiles:PS50084,hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF34,SMART_domains:SM00322,Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	93	62047915	62047915	G	A	1	0	0	0	0	1	0	0	0	8068	942	33	3		3	KHDRBS2	6	62047915	Missense_Mutation	SNP	G	C3N-02155_TP	29992060	62047915	108758064	51	30561											
COL12A1	0	.	GRCh38	chr6	75189685	75189685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaactccaactcttgtcttCtcttccccaatgtcaaaagc	11	12	3	15	0	4	0	1	0	3	0	7	0	6	0	3	0	3	0	3	0	5	3	rs199736979		C3N-02155_TP	C3N-02155_NB	C	C																c.525G>C	p.Glu175Asp	p.E175D	ENST00000322507	6/66	782	601	181	422	422	0	strelka-varscan-mutect	COL12A1,missense_variant,p.Glu175Asp,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Glu175Asp,ENST00000483888,;COL12A1,missense_variant,p.Glu175Asp,ENST00000416123,;COL12A1,5_prime_UTR_variant,,ENST00000615798,;COL12A1,intron_variant,,ENST00000345356,NM_080645.2;COL12A1,upstream_gene_variant,,ENST00000486533,;	G	ENST00000322507	Transcript	missense_variant	835/11723	525/9192	175/3063	E/D	gaG/gaC	rs199736979	1		-1	COL12A1	HGNC	HGNC:2188	protein_coding	YES	CCDS43482.1	ENSP00000325146	Q99715		UPI000045890B	NM_004370.5	tolerated(1)		6/66		PROSITE_profiles:PS50234,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF106,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1										PASS		rs199736979	.												G	3	3	93	75189685	75189685	C	G	1	0	0	0	0	1	0	0	0	3457	912	32	4		4	COL12A1	6	75189685	Missense_Mutation	SNP	C	C3N-02155_TP	13141770	75189685	95616294	52	30562											
ZNF292	0	.	GRCh38	chr6	87255140	87255140	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctggtggagttggtgctaAttctggccttcttaaagaca	8	15	11	7	0	3	1	0	0	3	1	3	2	3	2	1	4	1	2	1	4	3	6	novel		C3N-02155_TP	C3N-02155_NB	A	A																c.1511A>C	p.Asn504Thr	p.N504T	ENST00000369577	8/8	839	731	108	544	543	1	strelka-varscan-mutect	ZNF292,missense_variant,p.Asn504Thr,ENST00000369577,NM_015021.1;ZNF292,missense_variant,p.Asn499Thr,ENST00000339907,;ZNF292,intron_variant,,ENST00000496806,;ZNF292,downstream_gene_variant,,ENST00000466062,;	C	ENST00000369577	Transcript	missense_variant	1554/10610	1511/8172	504/2723	N/T	aAt/aCt		1		1	ZNF292	HGNC	HGNC:18410	protein_coding	YES	CCDS47457.1	ENSP00000358590	O60281		UPI000020D2CC	NM_015021.1	tolerated(0.86)		8/8		hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	93	87255140	87255140	A	C	1	0	0	0	0	1	0	0	0	18402	101	4	5		5	ZNF292	6	87255140	Missense_Mutation	SNP	A	C3N-02155_TP	12065455	87255140	83550839	53	30563											
ZNF292	0	.	GRCh38	chr6	87259774	87259774	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaacttgtagaaaaaaaaAgtcctgacaaaacagaaagt	23	6	6	6	0	0	3	0	1	0	2	1	3	1	3	1	0	3	1	1	0	10	2	rs755899917		C3N-02155_TP	C3N-02155_NB	A	A																c.6145A>T	p.Ser2049Cys	p.S2049C	ENST00000369577	8/8	347	299	48	225	225	0	strelka-varscan-mutect	ZNF292,missense_variant,p.Ser2049Cys,ENST00000369577,NM_015021.1;ZNF292,missense_variant,p.Ser2044Cys,ENST00000339907,;ZNF292,intron_variant,,ENST00000496806,;ZNF292,downstream_gene_variant,,ENST00000466062,;	T	ENST00000369577	Transcript	missense_variant	6188/10610	6145/8172	2049/2723	S/C	Agt/Tgt	rs755899917	1		1	ZNF292	HGNC	HGNC:18410	protein_coding	YES	CCDS47457.1	ENSP00000358590	O60281		UPI000020D2CC	NM_015021.1	tolerated(0.06)		8/8		hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14																	MODERATE	1	SNV	2			1										PASS		rs755899917	.												T	3	4	93	87259774	87259774	A	T	1	0	0	0	0	1	0	0	0	18402	72	3	4		4	ZNF292	6	87259774	Missense_Mutation	SNP	A	C3N-02155_TP	4634	87259774	83546205	54	30564											
FUT9	0	.	GRCh38	chr6	96203810	96203810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcattgaaatccatacctacGggcaagcatttggagaatat	14	10	9	8	1	0	2	0	1	0	1	1	3	1	2	2	2	3	3	2	2	6	5	rs765166497		C3N-02155_TP	C3N-02155_NB	G	G																c.655G>T	p.Gly219Trp	p.G219W	ENST00000302103	3/3	369	326	43	243	243	0	strelka-varscan-mutect	FUT9,missense_variant,p.Gly219Trp,ENST00000302103,NM_006581.3;	T	ENST00000302103	Transcript	missense_variant	981/12783	655/1080	219/359	G/W	Ggg/Tgg	rs765166497	1		1	FUT9	HGNC	HGNC:4020	protein_coding	YES	CCDS5033.1	ENSP00000302599	Q9Y231		UPI000013E792	NM_006581.3	deleterious(0)		3/3		Pfam_domain:PF00852,hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF10,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		rs765166497	.												T	3	4	93	96203810	96203810	G	T	1	0	0	0	0	1	0	0	0	5983	1116	39	1		1	FUT9	6	96203810	Missense_Mutation	SNP	G	C3N-02155_TP	8944036	96203810	74602169	55	30565											
FBXL4	0	.	GRCh38	chr6	98875656	98875656	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagtaatattcttacatctCcacagatccagggtccggag	11	11	8	11	1	3	1	1	0	2	1	6	2	5	2	3	2	1	1	3	2	3	4	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.1461G>A	p.Trp487Ter	p.W487*	ENST00000369244	9/10	952	851	101	554	554	0	strelka-varscan-mutect	FBXL4,stop_gained,p.Trp487Ter,ENST00000369244,;FBXL4,stop_gained,p.Trp487Ter,ENST00000229971,NM_001278716.1,NM_012160.4;	T	ENST00000369244	Transcript	stop_gained	1890/8035	1461/1866	487/621	W/*	tgG/tgA		1		-1	FBXL4	HGNC	HGNC:13601	protein_coding	YES	CCDS5041.1	ENSP00000358247	Q9UKA2		UPI000012ADE3				9/10		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF474,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	93	98875656	98875656	C	T	1	0	0	0	0	0	1	0	0	5584	856	30	3		3	FBXL4	6	98875656	Nonsense_Mutation	SNP	C	C3N-02155_TP	2671846	98875656	71930323	56	30566											
WASF1	0	.	GRCh38	chr6	110103396	110103396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgatacaggtgggtatcGgttttgcatctcctgctcca	7	13	10	11	1	1	1	0	1	1	0	4	1	2	1	3	3	3	4	3	3	2	4	rs141943257		C3N-02155_TP	C3N-02155_NB	G	G																c.875C>T	p.Pro292Leu	p.P292L	ENST00000392589	9/11	240	211	29	141	141	0	strelka-varscan-mutect	WASF1,missense_variant,p.Pro292Leu,ENST00000392589,NM_003931.2;WASF1,missense_variant,p.Pro292Leu,ENST00000392588,NM_001024934.1;WASF1,missense_variant,p.Pro292Leu,ENST00000359451,NM_001024935.1;WASF1,missense_variant,p.Pro292Leu,ENST00000392586,;WASF1,missense_variant,p.Pro292Leu,ENST00000392587,NM_001024936.1;WASF1,downstream_gene_variant,,ENST00000444391,;	A	ENST00000392589	Transcript	missense_variant	1712/3220	875/1680	292/559	P/L	cCg/cTg	rs141943257	1		-1	WASF1	HGNC	HGNC:12732	protein_coding	YES	CCDS5080.1	ENSP00000376368	Q92558		UPI000003AC31	NM_003931.2	deleterious(0.01)		9/11		hmmpanther:PTHR12902,hmmpanther:PTHR12902:SF8																	MODERATE	1	SNV	5			1										PASS		rs141943257	.												A	3	1	93	110103396	110103396	G	A	1	0	0	0	0	1	0	0	0	17812	1116	39	1		1	WASF1	6	110103396	Missense_Mutation	SNP	G	C3N-02155_TP	11227740	110103396	60702583	57	30567											
CNKSR3	0	.	GRCh38	chr6	154450133	154450133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacagcctccaacacaagctCctggtgtccaatccgtgtga	10	8	8	15	1	0	1	0	1	0	0	4	1	4	1	5	1	3	1	5	1	3	0	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.178G>A	p.Glu60Lys	p.E60K	ENST00000607772	2/13	271	234	37	182	182	0	strelka-varscan-mutect	CNKSR3,missense_variant,p.Glu60Lys,ENST00000607772,NM_173515.2;CNKSR3,5_prime_UTR_variant,,ENST00000479339,;	T	ENST00000607772	Transcript	missense_variant	723/21063	178/1668	60/555	E/K	Gag/Aag		1		-1	CNKSR3	HGNC	HGNC:23034	protein_coding	YES	CCDS5246.1	ENSP00000475915	Q6P9H4		UPI000020D0EA	NM_173515.2	deleterious(0)		2/13		Gene3D:1.10.150.50,Pfam_domain:PF00536,PROSITE_profiles:PS50105,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF17,SMART_domains:SM00454,Superfamily_domains:SSF47769																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	93	154450133	154450133	C	T	1	0	0	0	0	1	0	0	0	3388	864	30	3		3	CNKSR3	6	154450133	Missense_Mutation	SNP	C	C3N-02155_TP	44346737	154450133	16355846	58	30568											
PLG	0	.	GRCh38	chr6	160731870	160731870	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttttcactccagagacaaatCcacgggcgggtctggaaaaa	13	8	10	10	2	2	1	1	0	1	1	4	3	4	2	2	3	0	0	2	3	3	2	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.1564C>G	p.Pro522Ala	p.P522A	ENST00000308192	12/19	679	585	94	391	391	0	strelka-varscan-mutect	PLG,missense_variant,p.Pro522Ala,ENST00000308192,NM_000301.3;PLG,downstream_gene_variant,,ENST00000297289,;PLG,downstream_gene_variant,,ENST00000493435,;	G	ENST00000308192	Transcript	missense_variant	1627/2741	1564/2433	522/810	P/A	Cca/Gca		1		1	PLG	HGNC	HGNC:9071	protein_coding	YES	CCDS5279.1	ENSP00000308938	P00747		UPI000000D8B8	NM_000301.3	deleterious(0.01)		12/19		Gene3D:2.40.20.10,Pfam_domain:PF00051,PIRSF_domain:PIRSF001150,PROSITE_profiles:PS50070,hmmpanther:PTHR24261,hmmpanther:PTHR24261:SF2,SMART_domains:SM00130,Superfamily_domains:SSF57440																	MODERATE	1	SNV	1			1										PASS		rs896552124	.												G	3	3	93	160731870	160731870	C	G	1	0	0	0	0	1	0	0	0	12181	855	30	4		4	PLG	6	160731870	Missense_Mutation	SNP	C	C3N-02155_TP	6281737	160731870	10074109	59	30569											
T	0	.	GRCh38	chr6	166166813	166166813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaggagtacatggcgttggGgtccaggccagacacgttca	10	7	15	9	2	1	1	1	0	0	1	2	3	2	2	2	5	1	3	2	5	2	3	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.250C>A	p.Pro84Thr	p.P84T	ENST00000296946	3/9	627	543	84	434	432	2	strelka-varscan-mutect	T,missense_variant,p.Pro84Thr,ENST00000296946,NM_003181.3;T,missense_variant,p.Pro84Thr,ENST00000366871,NM_001270484.1;T,missense_variant,p.Pro84Thr,ENST00000366876,;T,missense_variant,p.Pro84Thr,ENST00000461348,;	T	ENST00000296946	Transcript	missense_variant	719/2436	250/1308	84/435	P/T	Ccc/Acc		1		-1	T	HGNC	HGNC:11515	protein_coding	YES	CCDS5290.1	ENSP00000296946	O15178		UPI0000126AB5	NM_003181.3	deleterious(0)		3/9		Gene3D:1h6fA00,Pfam_domain:PF00907,PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF83,SMART_domains:SM00425,Superfamily_domains:SSF49417																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	93	166166813	166166813	G	T	1	0	0	0	0	1	0	0	0	15884	1232	43	2		2	T	6	166166813	Missense_Mutation	SNP	G	C3N-02155_TP	5434943	166166813	4639166	60	30570											
SDK1	0	.	GRCh38	chr7	4127461	4127461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgacatggacatccgtgccgGaacaggaccagaatgggctc	11	6	13	11	2	0	2	0	1	0	1	2	5	1	5	3	4	2	1	3	4	2	0	rs750145998		C3N-02155_TP	C3N-02155_NB	G	G																c.3904G>A	p.Glu1302Lys	p.E1302K	ENST00000404826	26/45	636	579	57	245	245	0	strelka-varscan-mutect	SDK1,missense_variant,p.Glu1302Lys,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Glu1302Lys,ENST00000615806,;SDK1,missense_variant,p.Glu1302Lys,ENST00000389531,;SDK1,upstream_gene_variant,,ENST00000476701,;	A	ENST00000404826	Transcript	missense_variant	4043/10397	3904/6642	1302/2213	E/K	Gaa/Aaa	rs750145998,COSM1472066	1		1	SDK1	HGNC	HGNC:19307	protein_coding	YES	CCDS34590.1	ENSP00000385899	Q7Z5N4		UPI0000DBEEC4	NM_152744.3	tolerated(0.19)		26/45		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF36,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs750145998	.												A	3	1	93	4127461	4127461	G	A	1	0	0	0	0	1	0	0	0	14243	1175	41	3		3	SDK1	7	4127461	Missense_Mutation	SNP	G	C3N-02155_TP		4127461	155218512	61	30571											
TNRC18	0	.	GRCh38	chr7	5312837	5312837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgtgggggcgggggctGcctcatcgtccgagctgcag	4	6	18	13	4	1	0	1	0	0	0	3	1	2	0	3	4	4	3	3	4	0	0	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.8054C>T	p.Ala2685Val	p.A2685V	ENST00000430969	27/30	140	100	40	73	73	0	strelka-varscan-mutect	TNRC18,missense_variant,p.Ala2685Val,ENST00000399537,;TNRC18,missense_variant,p.Ala2685Val,ENST00000430969,NM_001080495.2;TNRC18,downstream_gene_variant,,ENST00000328270,;	A	ENST00000430969	Transcript	missense_variant	8403/10562	8054/8907	2685/2968	A/V	gCa/gTa		1		-1	TNRC18	HGNC	HGNC:11962	protein_coding	YES	CCDS47534.1	ENSP00000395538	O15417		UPI00016632FD	NM_001080495.2	deleterious_low_confidence(0)		27/30		hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF21																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	93	5312837	5312837	G	A	1	0	0	0	0	1	0	0	0	16812	1319	46	3		3	TNRC18	7	5312837	Missense_Mutation	SNP	G	C3N-02155_TP	1185376	5312837	154033136	62	30572											
USP42	0	.	GRCh38	chr7	6153883	6153883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagcaccaagaaggctccgCcgccccgcgatcccggcacc	8	2	11	20	5	0	1	0	0	0	1	2	2	2	1	7	2	1	4	7	2	2	0	rs779174997		C3N-02155_TP	C3N-02155_NB	C	C																c.2329C>G	p.Pro777Ala	p.P777A	ENST00000306177	15/18	265	242	23	100	100	0	strelka-varscan-mutect	USP42,missense_variant,p.Pro777Ala,ENST00000306177,NM_032172.2;USP42,missense_variant,p.Pro623Ala,ENST00000426246,;USP42,downstream_gene_variant,,ENST00000465073,;USP42,3_prime_UTR_variant,,ENST00000521713,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;	G	ENST00000306177	Transcript	missense_variant	2487/5155	2329/3951	777/1316	P/A	Ccg/Gcg	rs779174997	1		1	USP42	HGNC	HGNC:20068	protein_coding	YES	CCDS47535.1	ENSP00000301962	Q9H9J4		UPI0000416754	NM_032172.2	tolerated(0.64)		15/18																			MODERATE	1	SNV	5			1										PASS		rs779174997	.												G	3	3	93	6153883	6153883	C	G	1	0	0	0	0	1	0	0	0	17616	739	26	4		4	USP42	7	6153883	Missense_Mutation	SNP	C	C3N-02155_TP	841046	6153883	153192090	63	30573											
HDAC9	0	.	GRCh38	chr7	18629468	18629468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttcattcaagaagcgaatGtttgaggtgacaggtaattg	13	12	11	5	1	2	3	2	2	0	1	2	4	2	3	0	2	1	2	0	2	4	5	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.783G>A	p.Met261Ile	p.M261I	ENST00000441542	6/25	519	434	85	217	217	0	strelka-varscan-mutect	HDAC9,missense_variant,p.Met258Ile,ENST00000406451,NM_001321897.1,NM_178423.1;HDAC9,missense_variant,p.Met258Ile,ENST00000405010,NM_001321869.1,NM_001321870.1,NM_001321874.1,NM_001321875.1,NM_001321884.1,NM_001321886.1,NM_001321887.1,NM_001321890.1,NM_001321899.1,NM_001321900.1,NM_001321901.1,NM_001321902.1,NM_014707.1;HDAC9,missense_variant,p.Met261Ile,ENST00000441542,NM_178425.2;HDAC9,missense_variant,p.Met258Ile,ENST00000432645,NM_058176.2;HDAC9,missense_variant,p.Met230Ile,ENST00000456174,NM_001204148.1;HDAC9,intron_variant,,ENST00000622668,NM_001321879.1,NM_001321885.1,NM_001321893.1,NM_001321891.1,NM_001321894.1,NM_001204146.1;HDAC9,intron_variant,,ENST00000406072,NM_001321871.1,NM_001321872.1,NM_001321873.1,NM_001321888.1,NM_001321895.1,NM_001321898.1;HDAC9,intron_variant,,ENST00000401921,;HDAC9,intron_variant,,ENST00000417496,NM_001204144.1;HDAC9,intron_variant,,ENST00000428307,NM_001204145.1;HDAC9,intron_variant,,ENST00000524023,NM_001204147.1;HDAC9,non_coding_transcript_exon_variant,,ENST00000523867,;HDAC9,intron_variant,,ENST00000461159,;	A	ENST00000441542	Transcript	missense_variant	783/3210	783/3210	261/1069	M/I	atG/atA		1		1	HDAC9	HGNC	HGNC:14065	protein_coding	YES	CCDS47553.1	ENSP00000408617	Q9UKV0		UPI000019AB75	NM_178425.2	deleterious(0.02)		6/25		PIRSF_domain:PIRSF037911																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	93	18629468	18629468	G	A	1	0	0	0	0	1	0	0	0	6901	1377	48	3		3	HDAC9	7	18629468	Missense_Mutation	SNP	G	C3N-02155_TP	12475585	18629468	140716505	64	30574											
HDAC9	0	.	GRCh38	chr7	18975904	18975904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagaccgtttctgccctgGcctccctaacagtggatgtg	7	10	11	13	1	1	1	0	0	1	1	2	3	2	2	4	2	2	1	4	2	1	2	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.3121G>T	p.Ala1041Ser	p.A1041S	ENST00000441542	24/25	530	485	45	227	227	0	strelka-varscan-mutect	HDAC9,missense_variant,p.Ala1038Ser,ENST00000406451,NM_001321897.1,NM_178423.1;HDAC9,missense_variant,p.Ala997Ser,ENST00000401921,;HDAC9,missense_variant,p.Ala1041Ser,ENST00000441542,NM_178425.2;HDAC9,non_coding_transcript_exon_variant,,ENST00000496026,;HDAC9,non_coding_transcript_exon_variant,,ENST00000490851,;	T	ENST00000441542	Transcript	missense_variant	3121/3210	3121/3210	1041/1069	A/S	Gcc/Tcc		1		1	HDAC9	HGNC	HGNC:14065	protein_coding	YES	CCDS47553.1	ENSP00000408617	Q9UKV0		UPI000019AB75	NM_178425.2	deleterious(0.01)		24/25		hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF136,PIRSF_domain:PIRSF037911																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	93	18975904	18975904	G	T	1	0	0	0	0	1	0	0	0	6901	1203	42	2		2	HDAC9	7	18975904	Missense_Mutation	SNP	G	C3N-02155_TP	346436	18975904	140370069	65	30575											
ZNRF2	0	.	GRCh38	chr7	30285606	30285606	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccccgcgcagccgctccctCggcggggccgtggggagcgt	2	4	18	17	7	0	0	0	0	0	0	2	1	1	1	5	5	2	2	5	5	0	0	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.249C>T	p.=	p.L83L	ENST00000323037	1/5	112	96	16	36	36	0	strelka-mutect	ZNRF2,synonymous_variant,p.=,ENST00000323037,NM_147128.3;MIR550A1,upstream_gene_variant,,ENST00000385037,;hsa-mir-550a-1,downstream_gene_variant,,ENST00000637270,;ZNRF2,non_coding_transcript_exon_variant,,ENST00000459998,;	T	ENST00000323037	Transcript	synonymous_variant	1300/3460	249/729	83/242	L	ctC/ctT		1		1	ZNRF2	HGNC	HGNC:22316	protein_coding	YES	CCDS5426.1	ENSP00000323879	Q8NHG8	A0A090N8Y8	UPI000006DDF0	NM_147128.3			1/5		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1403552142	.												T	2	4	93	30285606	30285606	C	T	1	0	0	0	0	0	0	0	1	18805	871	31	1		1	ZNRF2	7	30285606	Silent	SNP	C	C3N-02155_TP	11309702	30285606	129060367	66	30576											
NPSR1	0	.	GRCh38	chr7	34658540	34658540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggaaggaaaggaatggggttCcttctactactcctttaagg	11	11	12	7	0	1	0	0	0	1	0	3	3	3	3	2	6	2	1	2	6	6	6	rs267601496		C3N-02155_TP	C3N-02155_NB	C	C																c.128C>G	p.Ser43Cys	p.S43C	ENST00000381539	1/10	391	354	37	166	166	0	strelka-varscan-mutect	NPSR1,missense_variant,p.Ser43Cys,ENST00000360581,NM_207172.1;NPSR1,missense_variant,p.Ser43Cys,ENST00000359791,NM_207173.1;NPSR1,missense_variant,p.Ser43Cys,ENST00000531252,NM_001300933.1;NPSR1,missense_variant,p.Ser43Cys,ENST00000381542,NM_001300934.1;NPSR1,missense_variant,p.Ser43Cys,ENST00000381539,NM_001300935.1;NPSR1,missense_variant,p.Ser43Cys,ENST00000381553,;NPSR1,missense_variant,p.Ser43Cys,ENST00000465305,;NPSR1-AS1,intron_variant,,ENST00000419766,;NPSR1-AS1,intron_variant,,ENST00000539747,;NPSR1-AS1,intron_variant,,ENST00000439852,;NPSR1-AS1,intron_variant,,ENST00000358772,;NPSR1-AS1,intron_variant,,ENST00000431669,;NPSR1,missense_variant,p.Ser43Cys,ENST00000396095,;NPSR1,missense_variant,p.Ser43Cys,ENST00000381544,;	G	ENST00000381539	Transcript	missense_variant	132/1233	128/1173	43/390	S/C	tCc/tGc	rs267601496	1		1	NPSR1	HGNC	HGNC:23631	protein_coding	YES	CCDS75579.1	ENSP00000370950	Q6W5P4		UPI00004F9C01	NM_001300935.1	deleterious(0)		1/10		hmmpanther:PTHR24244,hmmpanther:PTHR24244:SF2																	MODERATE	1	SNV	1			1										PASS		rs267601496	.												G	3	3	93	34658540	34658540	C	G	1	0	0	0	0	1	0	0	0	10656	855	30	4		4	NPSR1	7	34658540	Missense_Mutation	SNP	C	C3N-02155_TP	4372934	34658540	124687433	67	30577											
DPY19L1	0	.	GRCh38	chr7	35010491	35010491	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatatgtgccatatatgaaGaataatgccatcattagtcc	16	12	6	7	0	1	2	1	1	0	1	2	2	2	2	3	0	2	0	3	0	8	5	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.522C>G	p.Phe174Leu	p.F174L	ENST00000310974	6/22	380	337	43	187	187	0	varscan-mutect	DPY19L1,missense_variant,p.Phe247Leu,ENST00000638088,;DPY19L1,missense_variant,p.Phe174Leu,ENST00000310974,NM_015283.1;DPY19L1,non_coding_transcript_exon_variant,,ENST00000481923,;	C	ENST00000310974	Transcript	missense_variant	667/4870	522/2028	174/675	F/L	ttC/ttG		1		-1	DPY19L1	HGNC	HGNC:22205	protein_coding	YES	CCDS43567.1	ENSP00000308695	Q2PZI1		UPI000067CB92	NM_015283.1	tolerated(0.21)		6/22		Transmembrane_helices:TMhelix,hmmpanther:PTHR31488:SF5,hmmpanther:PTHR31488,Pfam_domain:PF10034																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	93	35010491	35010491	G	C	1	0	0	0	0	1	0	0	0	4555	933	33	4		4	DPY19L1	7	35010491	Missense_Mutation	SNP	G	C3N-02155_TP	351951	35010491	124335482	68	30578											
GPR141	0	.	GRCh38	chr7	37740430	37740430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccaggaattcctcttgcGatcctatagtgacaccccac	9	10	6	16	1	1	1	0	1	1	0	4	3	4	2	6	1	1	0	6	1	3	4	rs141399721		C3N-02155_TP	C3N-02155_NB	G	G																c.37G>A	p.Asp13Asn	p.D13N	ENST00000447769	4/4	224	205	19	97	96	1	strelka-varscan-mutect	GPR141,missense_variant,p.Asp13Asn,ENST00000447769,;GPR141,missense_variant,p.Asp13Asn,ENST00000334425,NM_181791.1;GPR141,missense_variant,p.Asp13Asn,ENST00000450180,;EPDR1,intron_variant,,ENST00000476620,;GPR141,intron_variant,,ENST00000461610,;	A	ENST00000447769	Transcript	missense_variant	326/1270	37/918	13/305	D/N	Gat/Aat	rs141399721,COSM601167	1		1	GPR141	HGNC	HGNC:19997	protein_coding	YES	CCDS5451.1	ENSP00000390410	Q7Z602		UPI000004B92B		tolerated(0.44)		4/4		hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF0,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV	3		0,1	1										PASS		rs141399721	.												A	3	1	93	37740430	37740430	G	A	1	0	0	0	0	1	0	0	0	6535	1058	37	1		1	GPR141	7	37740430	Missense_Mutation	SNP	G	C3N-02155_TP	2729939	37740430	121605543	69	30579											
VPS41	0	.	GRCh38	chr7	38754710	38754710	+	Frame_Shift_Del	DEL	G	G	-																															tgccatgctcaccacatgctGtagctctggtctgtcttcca																								rs765114320		C3N-02155_TP	C3N-02155_NB	G	G																c.1780delC	p.Gln594SerfsTer60	p.Q594Sfs*60	ENST00000310301	21/29	580	517	63	278	278	0	sindel-varindel-pindel	VPS41,frameshift_variant,p.Gln594SerfsTer60,ENST00000310301,NM_014396.3;VPS41,frameshift_variant,p.Gln569SerfsTer60,ENST00000395969,NM_080631.3;VPS41,downstream_gene_variant,,ENST00000462429,;	-	ENST00000310301	Transcript	frameshift_variant	1835/5903	1780/2565	594/854	Q/X	Cag/ag	rs765114320	1		-1	VPS41	HGNC	HGNC:12713	protein_coding	YES	CCDS5457.1	ENSP00000309457	P49754		UPI000000DAB7	NM_014396.3			21/29		PROSITE_profiles:PS50236,hmmpanther:PTHR12616,PIRSF_domain:PIRSF028921,Pfam_domain:PF00637,SMART_domains:SM00299																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	93	38754710	38754710	G	-	1	0	1	0	1	0	0	0	0	17756	1386	48	0		0	VPS41	7	38754710	Frame_Shift_Del	DEL	G	C3N-02155_TP	1014280	38754710	120591263	70	30580											
DBNL	0	.	GRCh38	chr7	44059578	44059578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccggcgcccagcactcctCcatgtctggtgcaggcagaa	8	6	12	15	2	1	1	0	0	1	1	3	1	3	1	4	3	3	3	4	3	1	0	rs537588038		C3N-02155_TP	C3N-02155_NB	C	C																c.994C>A	p.Pro332Thr	p.P332T	ENST00000468694	11/13	468	395	73	218	218	0	strelka-varscan-mutect	DBNL,missense_variant,p.Pro252Thr,ENST00000432854,;DBNL,missense_variant,p.Pro324Thr,ENST00000494774,NM_014063.6;DBNL,missense_variant,p.Pro332Thr,ENST00000468694,NM_001122956.1;DBNL,missense_variant,p.Pro229Thr,ENST00000490734,NM_001284315.1;DBNL,missense_variant,p.Pro323Thr,ENST00000448521,NM_001014436.2;DBNL,missense_variant,p.Pro299Thr,ENST00000452943,;DBNL,missense_variant,p.Pro220Thr,ENST00000440166,NM_001284313.1;DBNL,missense_variant,p.Pro275Thr,ENST00000456905,;DBNL,missense_variant,p.Pro31Thr,ENST00000452661,;PGAM2,downstream_gene_variant,,ENST00000297283,NM_000290.3;DBNL,non_coding_transcript_exon_variant,,ENST00000497184,;DBNL,3_prime_UTR_variant,,ENST00000441840,;DBNL,3_prime_UTR_variant,,ENST00000429716,;DBNL,3_prime_UTR_variant,,ENST00000411855,;DBNL,3_prime_UTR_variant,,ENST00000498733,;DBNL,non_coding_transcript_exon_variant,,ENST00000449997,;DBNL,downstream_gene_variant,,ENST00000441904,;DBNL,downstream_gene_variant,,ENST00000464762,;DBNL,downstream_gene_variant,,ENST00000458579,;DBNL,downstream_gene_variant,,ENST00000423561,;DBNL,downstream_gene_variant,,ENST00000439815,;DBNL,downstream_gene_variant,,ENST00000485932,;	A	ENST00000468694	Transcript	missense_variant	1021/2068	994/1320	332/439	P/T	Cca/Aca	rs537588038	1		1	DBNL	HGNC	HGNC:2696	protein_coding	YES	CCDS47579.1	ENSP00000417653	Q9UJU6		UPI000007147D	NM_001122956.1	tolerated(0.12)		11/13		hmmpanther:PTHR10829:SF12,hmmpanther:PTHR10829																	MODERATE		SNV	2			1										PASS		rs537588038	.												A	3	1	93	44059578	44059578	C	A	1	0	0	0	0	1	0	0	0	4055	855	30	2		2	DBNL	7	44059578	Missense_Mutation	SNP	C	C3N-02155_TP	5304868	44059578	115286395	71	30581											
TNS3	0	.	GRCh38	chr7	47283704	47283704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaggcactcacttcctctGattgtctgtcagggtgatgc	6	14	10	11	0	5	2	2	2	3	0	6	2	6	2	1	2	1	1	1	2	1	3	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.4090C>A	p.Gln1364Lys	p.Q1364K	ENST00000311160	28/31	109	101	8	52	52	0	strelka-varscan-mutect	TNS3,missense_variant,p.Gln1364Lys,ENST00000311160,NM_022748.11;TNS3,upstream_gene_variant,,ENST00000428457,;	T	ENST00000311160	Transcript	missense_variant	4448/7618	4090/4338	1364/1445	Q/K	Cag/Aag		1		-1	TNS3	HGNC	HGNC:21616	protein_coding	YES	CCDS5506.2	ENSP00000312143	Q68CZ2		UPI00001AE9DA	NM_022748.11	deleterious(0)		28/31		Gene3D:2.30.29.30,Pfam_domain:PF08416,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF42,SMART_domains:SM00462,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	93	47283704	47283704	G	T	1	0	0	0	0	1	0	0	0	16818	1299	45	2		2	TNS3	7	47283704	Missense_Mutation	SNP	G	C3N-02155_TP	3224126	47283704	112062269	72	30582											
FIGNL1	0	.	GRCh38	chr7	50447255	50447255	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taattcttctgccattcactCaggtgcacagatctagagct	10	13	7	11	0	5	2	2	0	3	2	5	2	5	2	1	1	3	2	1	1	2	5	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.33G>C	p.=	p.L11L	ENST00000419119	2/2	197	180	17	82	82	0	strelka-varscan-mutect	FIGNL1,synonymous_variant,p.=,ENST00000419119,;FIGNL1,synonymous_variant,p.=,ENST00000433017,NM_001287492.1;FIGNL1,synonymous_variant,p.=,ENST00000611938,;FIGNL1,synonymous_variant,p.=,ENST00000395556,NM_001042762.2,NM_022116.4;FIGNL1,synonymous_variant,p.=,ENST00000356889,;FIGNL1,synonymous_variant,p.=,ENST00000615084,NM_001287496.1,NM_001287494.1,NM_001287493.1;FIGNL1,synonymous_variant,p.=,ENST00000617389,NM_001287495.1;FIGNL1,synonymous_variant,p.=,ENST00000613602,;FIGNL1,synonymous_variant,p.=,ENST00000440350,;FIGNL1,synonymous_variant,p.=,ENST00000435566,;FIGNL1,synonymous_variant,p.=,ENST00000420829,;FIGNL1,synonymous_variant,p.=,ENST00000422854,;FIGNL1,synonymous_variant,p.=,ENST00000448788,;FIGNL1,synonymous_variant,p.=,ENST00000436590,;	G	ENST00000419119	Transcript	synonymous_variant	1587/3700	33/2025	11/674	L	ctG/ctC		1		-1	FIGNL1	HGNC	HGNC:13286	protein_coding	YES	CCDS5510.1	ENSP00000410811	Q6PIW4		UPI000013CE5D				2/2		hmmpanther:PTHR23074:SF75,hmmpanther:PTHR23074																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	93	50447255	50447255	C	G	1	0	0	0	0	0	0	0	1	5756	813	29	4		4	FIGNL1	7	50447255	Silent	SNP	C	C3N-02155_TP	3163551	50447255	108898718	73	30583											
POM121L12	0	.	GRCh38	chr7	53035765	53035765	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gccccgacgccctggcggctCccatgagcaggtcacccagc	6	4	12	19	3	1	1	1	1	0	0	2	2	2	1	5	3	2	2	5	3	0	0			C3N-02155_TP	C3N-02155_NB	C	C																c.94C>G	p.Pro32Ala	p.P32A	ENST00000408890	1/1	624	580	44	233	233	0	strelka-varscan-mutect	POM121L12,missense_variant,p.Pro32Ala,ENST00000408890,NM_182595.3;	G	ENST00000408890	Transcript	missense_variant	124/1283	94/891	32/296	P/A	Ccc/Gcc	COSM4513777,COSM5274281	1		1	POM121L12	HGNC	HGNC:25369	protein_coding	YES	CCDS43584.1	ENSP00000386133	Q8N7R1		UPI00001B6540	NM_182595.3	tolerated(0.27)		1/1		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF30											1,1						MODERATE	1	SNV			1,1	1										PASS		.	.												G	3	3	93	53035765	53035765	C	G	1	0	0	0	0	1	0	0	0	12352	855	30	4		4	POM121L12	7	53035765	Missense_Mutation	SNP	C	C3N-02155_TP	2588510	53035765	106310208	74	30584											
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcacagattttgggcTggccaaactgctgggtgcgg	9	9	14	9	1	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	2	2	rs121434568		C3N-02155_TP	C3N-02155_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	1233	596	637	562	560	2	strelka-varscan-mutect	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		rs121434568	.												G	3	3	93	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3N-02155_TP	2156057	55191822	104154151	75	30585											
KMT2C	0	.	GRCh38	chr7	152146674	152146674	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaaatacgctgggaaaagCtggagcatttcagacttttt	12	14	9	6	1	1	1	1	0	0	1	1	3	1	3	0	2	3	3	0	2	5	6	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.13956G>C	p.Gln4652His	p.Q4652H	ENST00000262189	53/59	426	314	112	403	403	0	strelka-varscan-mutect	KMT2C,missense_variant,p.Gln4652His,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Gln4652His,ENST00000355193,;KMT2C,missense_variant,p.Gln2213His,ENST00000360104,;KMT2C,missense_variant,p.Gln1269His,ENST00000424877,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	G	ENST00000262189	Transcript	missense_variant	14175/16862	13956/14736	4652/4911	Q/H	caG/caC		1		-1	KMT2C	HGNC	HGNC:13726	protein_coding	YES	CCDS5931.1	ENSP00000262189	Q8NEZ4		UPI0000141B9F	NM_170606.2	deleterious(0)		53/59		PROSITE_profiles:PS51543,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF373,Pfam_domain:PF05965,SMART_domains:SM00542																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	93	152146674	152146674	C	G	1	0	0	0	0	1	0	0	0	8297	796	28	4		4	KMT2C	7	152146674	Missense_Mutation	SNP	C	C3N-02155_TP	96954852	152146674	7199299	76	30586											
KMT2C	0	.	GRCh38	chr7	152235905	152235905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgcacctcgaggtctcCgctttcctggaaatccagac	7	10	9	15	2	1	1	0	0	1	1	6	3	4	2	5	2	1	2	5	2	1	1	rs76844681		C3N-02155_TP	C3N-02155_NB	C	C																c.2681G>A	p.Arg894Gln	p.R894Q	ENST00000262189	16/59	273	244	29	217	217	0	varscan-mutect	KMT2C,missense_variant,p.Arg894Gln,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Arg894Gln,ENST00000355193,;KMT2C,missense_variant,p.Arg50Gln,ENST00000418673,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;	T	ENST00000262189	Transcript	missense_variant	2900/16862	2681/14736	894/4911	R/Q	cGg/cAg	rs76844681,COSM4595028	1		-1	KMT2C	HGNC	HGNC:13726	protein_coding	YES	CCDS5931.1	ENSP00000262189	Q8NEZ4		UPI0000141B9F	NM_170606.2	deleterious(0.01)		16/59		Low_complexity_(Seg):seg,hmmpanther:PTHR22884:SF373,hmmpanther:PTHR22884											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs76844681	.												T	3	4	93	152235905	152235905	C	T	1	0	0	0	0	1	0	0	0	8297	652	23	1		1	KMT2C	7	152235905	Missense_Mutation	SNP	C	C3N-02155_TP	89231	152235905	7110068	77	30587											
MYOM2	0	.	GRCh38	chr8	2085332	2085332	+	Frame_Shift_Del	DEL	T	T	-																															cagcagaaactatgtcgtccTcagctgggagccacccactc																								novel		C3N-02155_TP	C3N-02155_NB	T	T																c.1586delT	p.Leu529ProfsTer37	p.L529Pfs*37	ENST00000262113	14/37	263	211	52	221	221	0	sindel-varindel-pindel	MYOM2,frameshift_variant,p.Leu529ProfsTer37,ENST00000262113,NM_003970.3;MYOM2,intron_variant,,ENST00000523438,;MYOM2,non_coding_transcript_exon_variant,,ENST00000519518,;MYOM2,non_coding_transcript_exon_variant,,ENST00000518803,;	-	ENST00000262113	Transcript	frameshift_variant	1727/5014	1586/4398	529/1465	L/X	cTc/cc		1		1	MYOM2	HGNC	HGNC:7614	protein_coding	YES	CCDS5957.1	ENSP00000262113	P54296		UPI000442D01B	NM_003970.3			14/37		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265,Prints_domain:PR00014																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	93	2085332	2085332	T	-	1	0	1	0	1	0	0	0	0	10093	1551	54	0		0	MYOM2	8	2085332	Frame_Shift_Del	DEL	T	C3N-02155_TP		2085332	143053304	78	30588											
PDLIM2	0	.	GRCh38	chr8	22585154	22585154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcactggagaggcagccatCagccgcaggtgagtgtgcct	8	7	14	12	1	2	2	2	1	0	1	2	3	2	2	3	3	3	2	3	3	0	0			C3N-02155_TP	C3N-02155_NB	C	C																c.1203C>G	p.Ile401Met	p.I401M	ENST00000308354	5/10	140	115	25	128	128	0	strelka-varscan-mutect	PDLIM2,stop_gained,p.Ser151Ter,ENST00000622702,;PDLIM2,missense_variant,p.Ile151Met,ENST00000265810,NM_176871.3;PDLIM2,missense_variant,p.Ile401Met,ENST00000308354,NM_021630.5;PDLIM2,missense_variant,p.Ile401Met,ENST00000339162,;PDLIM2,missense_variant,p.Ile151Met,ENST00000397760,;PDLIM2,missense_variant,p.Ile151Met,ENST00000397761,;PDLIM2,missense_variant,p.Ile151Met,ENST00000409417,;PDLIM2,missense_variant,p.Ile151Met,ENST00000409141,NM_198042.3;PDLIM2,missense_variant,p.Ile151Met,ENST00000452226,;PDLIM2,missense_variant,p.Ile151Met,ENST00000456545,;PDLIM2,missense_variant,p.Ile151Met,ENST00000429812,;PDLIM2,missense_variant,p.Ile151Met,ENST00000426493,;PDLIM2,missense_variant,p.Ile151Met,ENST00000436754,;PDLIM2,upstream_gene_variant,,ENST00000464275,;AC037459.4,upstream_gene_variant,,ENST00000450780,;AC037459.4,upstream_gene_variant,,ENST00000447849,;PDLIM2,upstream_gene_variant,,ENST00000443561,;PDLIM2,upstream_gene_variant,,ENST00000614502,;AC037459.4,upstream_gene_variant,,ENST00000430850,;PDLIM2,downstream_gene_variant,,ENST00000616289,;PDLIM2,missense_variant,p.Ile63Met,ENST00000448520,;PDLIM2,3_prime_UTR_variant,,ENST00000416159,;PDLIM2,non_coding_transcript_exon_variant,,ENST00000491330,;PDLIM2,upstream_gene_variant,,ENST00000622226,;	G	ENST00000308354	Transcript	missense_variant	1242/2236	1203/1809	401/602	I/M	atC/atG	COSM1133827,COSM1552139,COSM1552140,COSM421675	1		1	PDLIM2	HGNC	HGNC:13992	protein_coding	YES	CCDS6032.2	ENSP00000312634	Q96JY6		UPI0000E5AE4E	NM_021630.5	tolerated(0.08)		5/10		hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF1											1,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		.	.												G	3	3	93	22585154	22585154	C	G	1	0	0	0	0	1	0	0	0	11768	838	29	4		4	PDLIM2	8	22585154	Missense_Mutation	SNP	C	C3N-02155_TP	20499822	22585154	122553482	79	30589											
KIF13B	0	.	GRCh38	chr8	29123415	29123415	+	Frame_Shift_Del	DEL	C	C	-																															gccagcagaggggaccatcaCcgcgttcctctcctcagtta																								novel		C3N-02155_TP	C3N-02155_NB	C	C																c.3430delG	p.Val1144Ter	p.V1144*	ENST00000524189	28/40	380	333	47	318	318	0	sindel-varindel-pindel	KIF13B,frameshift_variant,p.Val1144Ter,ENST00000524189,NM_015254.3;CTD-2647L4.1,intron_variant,,ENST00000523661,;	-	ENST00000524189	Transcript	frameshift_variant	3469/8745	3430/5481	1144/1826	V/X	Gtg/tg		1		-1	KIF13B	HGNC	HGNC:14405	protein_coding	YES	CCDS55217.1	ENSP00000427900	Q9NQT8		UPI000035B257	NM_015254.3			28/40		Pfam_domain:PF12473																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	93	29123415	29123415	C	-	1	0	1	0	1	0	0	0	0	8139	507	18	0		0	KIF13B	8	29123415	Frame_Shift_Del	DEL	C	C3N-02155_TP	6538261	29123415	116015221	80	30590											
WRN	0	.	GRCh38	chr8	31111748	31111749	+	Frame_Shift_Ins	INS	-	-	A																															ctgtatttagaagttaggcgINSaaaaacagggaatatccttc																								novel		C3N-02155_TP	C3N-02155_NB	-	-																c.2227dupA	p.Thr743AsnfsTer22	p.T743Nfs*22	ENST00000298139	19/35	373	309	64	296	294	2	sindel-varindel-pindel	WRN,frameshift_variant,p.Thr743AsnfsTer22,ENST00000298139,NM_000553.4;WRN,non_coding_transcript_exon_variant,,ENST00000521620,;	A	ENST00000298139	Transcript	frameshift_variant	2471-2472/5215	2222-2223/4299	741/1432	R/RX	cga/cgAa		1		1	WRN	HGNC	HGNC:12791	protein_coding	YES	CCDS6082.1	ENSP00000298139	Q14191		UPI000013E49D	NM_000553.4			19/35		hmmpanther:PTHR13710:SF87,hmmpanther:PTHR13710,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00614,Superfamily_domains:SSF52540																	HIGH	1	insertion	1	5		1										PASS		.	.												A	7	5	93	31111748	31111748	-	A	1	0	1	1	0	0	0	0	0	17959	1058	37	0		0	WRN	8	31111748	Frame_Shift_Ins	INS	-	C3N-02155_TP	1988333	31111748	114026888	81	30591											
SHC3	0	.	GRCh38	chr9	89046995	89046995	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcatccagactctgcattCtgttaaaggaagatttccaa	12	12	7	10	0	3	2	1	0	2	2	5	3	5	3	2	1	1	3	2	1	4	3	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.963-1G>C		p.X321_splice	ENST00000375835		56	38	18	82	82	0	strelka-varscan-mutect	SHC3,splice_acceptor_variant,,ENST00000375835,NM_016848.5;SHC3,upstream_gene_variant,,ENST00000375831,;	G	ENST00000375835	Transcript	splice_acceptor_variant	-/9768	963/1785	321/594				1		-1	SHC3	HGNC	HGNC:18181	protein_coding	YES	CCDS6681.1	ENSP00000364995	Q92529		UPI0000073E1F	NM_016848.5				7/11																		HIGH	1	SNV	1			1										PASS		.	.												G	5	3	93	89046995	89046995	C	G	1	0	0	0	0	0	0	1	0	14531	927	32	4		4	SHC3	9	89046995	Splice_Site	SNP	C	C3N-02155_TP		89046995	49347722	82	30592											
PHF2	0	.	GRCh38	chr9	93676792	93676792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcaggagggcagctcgccaGagcccccgcctgagtcgcat	7	4	14	16	4	0	2	0	1	0	1	2	3	0	3	4	2	2	4	4	2	0	0	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.3031G>C	p.Glu1011Gln	p.E1011Q	ENST00000359246	21/22	144	118	26	153	153	0	strelka-varscan-mutect	PHF2,missense_variant,p.Glu1011Gln,ENST00000359246,NM_005392.3;PHF2,missense_variant,p.Glu224Gln,ENST00000375376,;PHF2,missense_variant,p.Glu243Gln,ENST00000610682,;	C	ENST00000359246	Transcript	missense_variant	3398/5569	3031/3291	1011/1096	E/Q	Gag/Cag		1		1	PHF2	HGNC	HGNC:8920	protein_coding	YES	CCDS35069.1	ENSP00000352185	O75151		UPI0000211A97	NM_005392.3	tolerated(0.06)		21/22		hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF14,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	93	93676792	93676792	G	C	1	0	0	0	0	1	0	0	0	11916	943	33	4		4	PHF2	9	93676792	Missense_Mutation	SNP	G	C3N-02155_TP	4629797	93676792	44717925	83	30593											
HMCN2	0	.	GRCh38	chr9	130265931	130265931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgcggtctctgcggcagTggcagtggcagtggccgggg	4	6	20	11	4	1	0	0	0	1	0	2	1	1	0	2	7	1	3	2	7	0	0	novel		C3N-02155_TP	C3N-02155_NB	T	T																c.50T>C	p.Val17Ala	p.V17A	ENST00000624552	1/98	33	25	8	15	15	0	varscan-mutect	HMCN2,missense_variant,p.Val17Ala,ENST00000624552,NM_001291815.1;	C	ENST00000624552	Transcript	missense_variant	50/15610	50/15180	17/5059	V/A	gTg/gCg		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	tolerated_low_confidence(0.53)		1/98		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	93	130265931	130265931	T	C	1	0	0	0	0	1	0	0	0	7112	1696	59	5		5	HMCN2	9	130265931	Missense_Mutation	SNP	T	C3N-02155_TP	36589139	130265931	8128786	84	30594											
PLPP7	0	.	GRCh38	chr9	131308114	131308114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgctggcggtgcccctgCgtgtgctgctggtgctctgg	0	12	18	11	2	1	0	0	0	1	0	1	0	1	0	2	5	6	4	2	5	0	0	rs760054266		C3N-02155_TP	C3N-02155_NB	C	C																c.643C>A	p.Arg215Ser	p.R215S	ENST00000372264	2/2	398	340	58	238	238	0	strelka-varscan-mutect	PLPP7,missense_variant,p.Arg215Ser,ENST00000372264,NM_032728.3;	A	ENST00000372264	Transcript	missense_variant	947/2095	643/816	215/271	R/S	Cgt/Agt	rs760054266,COSM204265	1		1	PLPP7	HGNC	HGNC:28174	protein_coding	YES	CCDS6942.1	ENSP00000361338	Q8NBV4		UPI0000070B2A	NM_032728.3	deleterious(0)		2/2		Gene3D:1.20.144.10,Pfam_domain:PF01569,hmmpanther:PTHR14969,hmmpanther:PTHR14969:SF17,Low_complexity_(Seg):seg,SMART_domains:SM00014,Superfamily_domains:SSF48317,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs760054266	.												A	3	1	93	131308114	131308114	C	A	1	0	0	0	0	1	0	0	0	12208	768	27	1		1	PLPP7	9	131308114	Missense_Mutation	SNP	C	C3N-02155_TP	1042183	131308114	7086603	85	30595											
FAM21C	0	.	GRCh38	chr10	45784889	45784889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttttcagctctgccaaGtcccagcctttggtaccagc	7	12	8	14	0	3	0	1	0	2	0	4	1	4	0	4	1	5	2	4	1	2	4	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.2676G>T	p.Lys892Asn	p.K892N	ENST00000374362	25/30	85	67	18	76	76	0	strelka-varscan-mutect	FAM21C,missense_variant,p.Lys892Asn,ENST00000336378,;FAM21C,missense_variant,p.Lys892Asn,ENST00000374362,NM_015262.2;FAM21C,missense_variant,p.Lys892Asn,ENST00000623400,;FAM21C,missense_variant,p.Lys892Asn,ENST00000540872,NM_001169106.1;FAM21C,missense_variant,p.Lys834Asn,ENST00000359860,;FAM21C,missense_variant,p.Lys817Asn,ENST00000537517,NM_001169107.1;FAM21C,non_coding_transcript_exon_variant,,ENST00000374359,;FAM21C,upstream_gene_variant,,ENST00000471102,;	T	ENST00000374362	Transcript	missense_variant	2775/4623	2676/3963	892/1320	K/N	aaG/aaT		1		1	FAM21C	HGNC	HGNC:23414	protein_coding	YES	CCDS44374.2	ENSP00000363482	Q9Y4E1		UPI0000551BE9	NM_015262.2	deleterious(0)		25/30		hmmpanther:PTHR21669:SF4,hmmpanther:PTHR21669																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	93	45784889	45784889	G	T	1	0	0	0	0	1	0	0	0	5412	1020	36	2		2	FAM21C	10	45784889	Missense_Mutation	SNP	G	C3N-02155_TP		45784889	88012533	86	30596											
CCAR1	0	.	GRCh38	chr10	68749243	68749243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgacagaggggatcaagtgCctaacagaaaagatgatcga	17	6	12	6	1	1	5	1	2	0	3	2	7	1	6	1	2	2	0	1	2	4	1	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.934C>T	p.Pro312Ser	p.P312S	ENST00000265872	9/25	180	133	47	144	144	0	strelka-varscan-mutect	CCAR1,missense_variant,p.Pro312Ser,ENST00000265872,NM_018237.3;CCAR1,missense_variant,p.Pro312Ser,ENST00000630771,;CCAR1,missense_variant,p.Pro297Ser,ENST00000543719,NM_001282960.1,NM_001282959.1;CCAR1,missense_variant,p.Pro297Ser,ENST00000539539,;CCAR1,missense_variant,p.Pro117Ser,ENST00000536012,;CCAR1,missense_variant,p.Pro286Ser,ENST00000543225,;CCAR1,missense_variant,p.Pro312Ser,ENST00000540210,;CCAR1,missense_variant,p.Pro312Ser,ENST00000541012,;CCAR1,3_prime_UTR_variant,,ENST00000543229,;	T	ENST00000265872	Transcript	missense_variant	1053/4683	934/3453	312/1150	P/S	Cct/Tct		1		1	CCAR1	HGNC	HGNC:24236	protein_coding	YES	CCDS7282.1	ENSP00000265872	Q8IX12		UPI000004D30A	NM_018237.3	tolerated(0.83)		9/25		hmmpanther:PTHR14304,hmmpanther:PTHR14304:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	93	68749243	68749243	C	T	1	0	0	0	0	1	0	0	0	2431	739	26	3		3	CCAR1	10	68749243	Missense_Mutation	SNP	C	C3N-02155_TP	22964354	68749243	65048179	87	30597											
P4HA1	0	.	GRCh38	chr10	73051092	73051092	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggcacagcatttcgtacttCtgtctctctggcaggtaatc	7	13	9	12	2	3	0	0	0	3	0	6	0	3	0	0	3	2	5	0	3	2	4	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.861G>C	p.Gln287His	p.Q287H	ENST00000263556	7/15	173	135	38	186	186	0	strelka-varscan-mutect	P4HA1,missense_variant,p.Gln287His,ENST00000263556,NM_000917.3;P4HA1,missense_variant,p.Gln287His,ENST00000394890,NM_001017962.2,NM_001142595.1;P4HA1,missense_variant,p.Gln287His,ENST00000440381,NM_001142596.1;P4HA1,missense_variant,p.Gln287His,ENST00000307116,;P4HA1,missense_variant,p.Gln287His,ENST00000373008,;	G	ENST00000263556	Transcript	missense_variant	1102/2844	861/1605	287/534	Q/H	caG/caC		1		-1	P4HA1	HGNC	HGNC:8546	protein_coding	YES	CCDS7320.1	ENSP00000263556	P13674	Q5VSQ6	UPI000002B050	NM_000917.3	deleterious(0.01)		7/15		hmmpanther:PTHR10869,hmmpanther:PTHR10869:SF76																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	93	73051092	73051092	C	G	1	0	0	0	0	1	0	0	0	11433	912	32	4		4	P4HA1	10	73051092	Missense_Mutation	SNP	C	C3N-02155_TP	4301849	73051092	60746330	88	30598											
SH3PXD2A	0	.	GRCh38	chr10	103602670	103602670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggaccttctggtaggCgctgcatgtcatgtacgagg	6	11	14	10	2	2	0	1	0	1	0	3	2	3	1	2	4	2	4	2	4	2	3	rs764554398		C3N-02155_TP	C3N-02155_NB	C	C																c.2464G>A	p.Ala822Thr	p.A822T	ENST00000355946	14/14	401	338	63	345	345	0	strelka-varscan-mutect	SH3PXD2A,missense_variant,p.Ala850Thr,ENST00000369774,;SH3PXD2A,missense_variant,p.Ala822Thr,ENST00000355946,NM_014631.2;SH3PXD2A,missense_variant,p.Ala777Thr,ENST00000420222,;SH3PXD2A,non_coding_transcript_exon_variant,,ENST00000315994,;	T	ENST00000355946	Transcript	missense_variant	2604/11245	2464/3318	822/1105	A/T	Gcc/Acc	rs764554398,COSM1321558	1		-1	SH3PXD2A	HGNC	HGNC:23664	protein_coding	YES	CCDS31278.1	ENSP00000348215	Q5TCZ1		UPI000041B175	NM_014631.2	tolerated(0.56)		14/14		Gene3D:2.30.30.40,Pfam_domain:PF00018,hmmpanther:PTHR15706,hmmpanther:PTHR15706:SF7,SMART_domains:SM00326,Superfamily_domains:SSF50044											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs764554398	.												T	3	4	93	103602670	103602670	C	T	1	0	0	0	0	1	0	0	0	14515	768	27	1		1	SH3PXD2A	10	103602670	Missense_Mutation	SNP	C	C3N-02155_TP	30551578	103602670	30194752	89	30599											
IKZF5	0	.	GRCh38	chr10	122994179	122994179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtagagggctgctgaatCatgaaaggcttttcatcagg	10	11	14	6	0	3	3	3	2	0	1	3	3	3	3	0	4	1	4	0	4	3	3	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.861G>T	p.Met287Ile	p.M287I	ENST00000368886	5/5	589	473	116	551	550	1	strelka-varscan-mutect	IKZF5,missense_variant,p.Met287Ile,ENST00000368886,;IKZF5,missense_variant,p.Met287Ile,ENST00000617859,NM_001271840.1;PSTK,downstream_gene_variant,,ENST00000368887,NM_153336.2;PSTK,downstream_gene_variant,,ENST00000406217,;PSTK,intron_variant,,ENST00000497219,;PSTK,intron_variant,,ENST00000496079,;PSTK,downstream_gene_variant,,ENST00000465232,;IKZF5,downstream_gene_variant,,ENST00000479103,;PSTK,downstream_gene_variant,,ENST00000483455,;IKZF5,downstream_gene_variant,,ENST00000496605,;PSTK,downstream_gene_variant,,ENST00000483755,;IKZF5,downstream_gene_variant,,ENST00000469821,;	A	ENST00000368886	Transcript	missense_variant	1182/4555	861/1260	287/419	M/I	atG/atT		1		-1	IKZF5	HGNC	HGNC:14283	protein_coding	YES	CCDS41574.1	ENSP00000357881	Q9H5V7		UPI000006DBBE		tolerated(0.41)		5/5		hmmpanther:PTHR24387:SF7,hmmpanther:PTHR24387																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	93	122994179	122994179	C	A	1	0	0	0	0	1	0	0	0	7526	826	29	2		2	IKZF5	10	122994179	Missense_Mutation	SNP	C	C3N-02155_TP	19391509	122994179	10803243	90	30600											
BUB3	0	.	GRCh38	chr10	123162806	123162806	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcttcattcgccaagtgAcagatgcagaaacaaaaccc	15	8	7	11	1	2	3	1	1	1	2	3	3	2	3	2	0	3	2	2	0	5	3	novel		C3N-02155_TP	C3N-02155_NB	A	A																c.949A>G	p.Thr317Ala	p.T317A	ENST00000368865	7/8	304	194	110	312	312	0	strelka-varscan-mutect	BUB3,missense_variant,p.Thr317Ala,ENST00000368865,NM_004725.3;BUB3,missense_variant,p.Thr317Ala,ENST00000368858,NM_001007793.2;BUB3,intron_variant,,ENST00000368859,;BUB3,downstream_gene_variant,,ENST00000407911,;BUB3,non_coding_transcript_exon_variant,,ENST00000481952,;	G	ENST00000368865	Transcript	missense_variant	1158/7828	949/987	317/328	T/A	Aca/Gca		1		1	BUB3	HGNC	HGNC:1151	protein_coding	YES	CCDS7635.1	ENSP00000357858	O43684		UPI0000126B30	NM_004725.3	tolerated(0.41)		7/8		hmmpanther:PTHR10971																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	93	123162806	123162806	A	G	1	0	0	0	0	1	0	0	0	1748	275	10	5		5	BUB3	10	123162806	Missense_Mutation	SNP	A	C3N-02155_TP	168627	123162806	10634616	91	30601											
OR52J3	0	.	GRCh38	chr11	5047176	5047176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctggtgctcattggcatCtcgtatgtttacattctccg	7	15	8	11	2	3	0	1	0	2	0	5	0	3	0	2	2	3	4	2	2	3	5	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.651C>G	p.Ile217Met	p.I217M	ENST00000380370	1/1	306	240	66	186	186	0	strelka-varscan-mutect	OR52J3,missense_variant,p.Ile217Met,ENST00000380370,NM_001001916.2;	G	ENST00000380370	Transcript	missense_variant	651/936	651/936	217/311	I/M	atC/atG		1		1	OR52J3	HGNC	HGNC:14799	protein_coding	YES	CCDS31370.1	ENSP00000369728	Q8NH60		UPI0000046AE0	NM_001001916.2	deleterious(0.04)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF9,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	93	5047176	5047176	C	G	1	0	0	0	0	1	0	0	0	11195	903	32	4		4	OR52J3	11	5047176	Missense_Mutation	SNP	C	C3N-02155_TP		5047176	130039446	92	30602											
OR52E6	0	.	GRCh38	chr11	5840983	5840983	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtcttgaagaaaatcctCagcactgtctccctaatatg	11	13	6	11	0	4	2	1	1	3	1	6	2	5	2	2	0	1	1	2	0	5	3	rs540768482		C3N-02155_TP	C3N-02155_NB	C	C																c.915G>A	p.=	p.L305L	ENST00000329322	1/1	52	42	10	39	39	0	strelka-varscan-mutect	OR52E6,synonymous_variant,p.=,ENST00000329322,NM_001005167.1;OR52E6,synonymous_variant,p.=,ENST00000379946,;TRIM5,intron_variant,,ENST00000380027,NM_033093.2;TRIM5,intron_variant,,ENST00000412903,;	T	ENST00000329322	Transcript	synonymous_variant	915/970	915/942	305/313	L	ctG/ctA	rs540768482,COSM4861479,COSM688227	1		-1	OR52E6	HGNC	HGNC:15215	protein_coding	YES	CCDS53597.1	ENSP00000328878	Q96RD3	A0A126GVK5	UPI00000015AE	NM_001005167.1			1/1		hmmpanther:PTHR26450:SF175,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											0,1,1						LOW	1	SNV			0,1,1	1										PASS		rs540768482	.												T	2	4	93	5840983	5840983	C	T	1	0	0	0	0	0	0	0	1	11190	813	29	3		3	OR52E6	11	5840983	Silent	SNP	C	C3N-02155_TP	793807	5840983	129245639	93	30603											
LARGE2	0	.	GRCh38	chr11	45922963	45922963	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctcggattcctcctgttCggtggggacctggggtgtga	3	12	16	10	2	0	1	0	1	0	0	4	3	2	3	3	6	1	2	3	6	0	2	rs769760213		C3N-02155_TP	C3N-02155_NB	C	C																c.81C>T	p.=	p.F27F	ENST00000531526	2/14	53	37	16	30	30	0	strelka-mutect	LARGE2,splice_region_variant,p.=,ENST00000529052,NM_001300722.1;LARGE2,synonymous_variant,p.=,ENST00000531526,NM_152312.4;LARGE2,synonymous_variant,p.=,ENST00000325468,;LARGE2,synonymous_variant,p.=,ENST00000401752,NM_001300721.1;PEX16,upstream_gene_variant,,ENST00000532681,;PEX16,upstream_gene_variant,,ENST00000378750,NM_004813.2;PEX16,upstream_gene_variant,,ENST00000525192,;LARGE2,upstream_gene_variant,,ENST00000534410,;LARGE2,upstream_gene_variant,,ENST00000528236,;LARGE2,upstream_gene_variant,,ENST00000530437,;PEX16,upstream_gene_variant,,ENST00000528674,;PEX16,upstream_gene_variant,,ENST00000529030,;LARGE2,upstream_gene_variant,,ENST00000414027,;LARGE2,upstream_gene_variant,,ENST00000525609,;	T	ENST00000531526	Transcript	synonymous_variant	192/2528	81/2166	27/721	F	ttC/ttT	rs769760213	1		1	LARGE2	HGNC	HGNC:16522	protein_coding	YES	CCDS31473.1	ENSP00000432869	Q8N3Y3		UPI000004B639	NM_152312.4			2/14		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		rs769760213	.												T	2	4	93	45922963	45922963	C	T	1	0	0	0	0	0	0	0	1	8538	883	31	1		1	LARGE2	11	45922963	Silent	SNP	C	C3N-02155_TP	40081980	45922963	89163659	94	30604											
OR1S2	0	.	GRCh38	chr11	58203945	58203945	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggaaatatcagcaaaggaTaggtaggcaaggaagagata	19	5	14	3	0	1	1	1	0	0	1	1	6	1	4	0	5	1	3	0	5	8	4	novel		C3N-02155_TP	C3N-02155_NB	T	T																c.237A>T	p.=	p.L79L	ENST00000302592	1/1	538	454	84	357	357	0	strelka-varscan-mutect	OR1S2,synonymous_variant,p.=,ENST00000302592,NM_001004459.1;	A	ENST00000302592	Transcript	synonymous_variant	237/980	237/978	79/325	L	ctA/ctT		1		-1	OR1S2	HGNC	HGNC:15141	protein_coding	YES	CCDS31545.1	ENSP00000305469	Q8NGQ3		UPI0000041D68	NM_001004459.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF180,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												A	2	1	93	58203945	58203945	T	A	1	0	0	0	0	0	0	0	1	11050	1393	49	4		4	OR1S2	11	58203945	Silent	SNP	T	C3N-02155_TP	12280982	58203945	76882677	95	30605											
GLYATL1P3	0	.	GRCh38	chr11	59094418	59094431	+	Frame_Shift_Del	DEL	CTGGTAAATGACAA	CTGGTAAATGACAA	-																															tgaatgtgtcttattctgggCtggtaaatgacaactggaag																								novel		C3N-02155_TP	C3N-02155_NB	CTGGTAAATGACAA	CTGGTAAATGACAA																c.545_558delTAAATGACAACTGG	p.Val182GlufsTer6	p.V182Efs*6	ENST00000527482	5/5	56	46	10	49	49	0	sindel-varindel	GLYATL1P3,frameshift_variant,p.Val182GlufsTer6,ENST00000527482,;	-	ENST00000527482	Transcript	frameshift_variant	541-554/909	541-554/909	181-185/302	LVNDN/X	CTGGTAAATGACAAc/c		1		1	GLYATL1P3	HGNC	HGNC:37865	protein_coding	YES		ENSP00000488958		A0A0U1RQE8	UPI00000492E2				5/5		Gene3D:3.40.630.30,Pfam_domain:PF06021,hmmpanther:PTHR15298,hmmpanther:PTHR15298:SF7,Superfamily_domains:SSF55729																	HIGH	1	deletion	5	4		1										PASS		.	.												-	7	5	93	59094418	59094418	CTGGTAAATGACAA	-	1	0	1	0	1	0	0	0	0	6358	796	28	0		0	GLYATL1P3	11	59094418	Frame_Shift_Del	DEL	CTGGTAAATGACAA	C3N-02155_TP	890473	59094418	75992204	96	30606											
FCHSD2	0	.	GRCh38	chr11	72842707	72842707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaaactccaatacgccCattgaattccccttcccaga	12	9	6	14	1	0	2	0	1	0	1	3	3	3	3	5	1	2	0	5	1	5	4	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.1840G>A	p.Gly614Arg	p.G614R	ENST00000409418	17/20	659	561	98	529	529	0	strelka-varscan-mutect	FCHSD2,missense_variant,p.Gly638Arg,ENST00000409314,;FCHSD2,missense_variant,p.Gly558Arg,ENST00000311172,;FCHSD2,missense_variant,p.Gly614Arg,ENST00000409418,NM_014824.2;FCHSD2,missense_variant,p.Gly478Arg,ENST00000458644,;ATG16L2,3_prime_UTR_variant,,ENST00000534905,;FCHSD2,intron_variant,,ENST00000409263,;FCHSD2,downstream_gene_variant,,ENST00000409853,;FCHSD2,downstream_gene_variant,,ENST00000432043,;	T	ENST00000409418	Transcript	missense_variant	2224/3154	1840/2223	614/740	G/R	Ggg/Agg		1		-1	FCHSD2	HGNC	HGNC:29114	protein_coding	YES	CCDS8218.2	ENSP00000386722	O94868		UPI0000251F08	NM_014824.2	deleterious(0.02)		17/20		PROSITE_profiles:PS50002,hmmpanther:PTHR15735:SF11,hmmpanther:PTHR15735,Gene3D:2.30.30.40,Pfam_domain:PF14604,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	93	72842707	72842707	C	T	1	0	0	0	0	1	0	0	0	5652	594	21	3		3	FCHSD2	11	72842707	Missense_Mutation	SNP	C	C3N-02155_TP	13748289	72842707	62243915	97	30607											
MRPL48	0	.	GRCh38	chr11	73844852	73844852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtgagagccattaatttgGggacagattatgaatatggg	14	11	13	3	0	0	3	0	2	0	2	0	5	0	4	1	3	1	0	1	3	5	4	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.247G>T	p.Gly83Trp	p.G83W	ENST00000310614	5/8	354	300	54	262	262	0	strelka-varscan-mutect	MRPL48,missense_variant,p.Gly83Trp,ENST00000310614,NM_016055.5;MRPL48,5_prime_UTR_variant,,ENST00000314282,;MRPL48,5_prime_UTR_variant,,ENST00000411840,;MRPL48,5_prime_UTR_variant,,ENST00000398483,;MRPL48,5_prime_UTR_variant,,ENST00000535277,;MRPL48,5_prime_UTR_variant,,ENST00000497094,;MRPL48,5_prime_UTR_variant,,ENST00000537007,;MRPL48,intron_variant,,ENST00000542303,NM_001318500.1;MRPL48,3_prime_UTR_variant,,ENST00000508278,;MRPL48,3_prime_UTR_variant,,ENST00000540162,;MRPL48,3_prime_UTR_variant,,ENST00000544140,;MRPL48,3_prime_UTR_variant,,ENST00000544819,;MRPL48,3_prime_UTR_variant,,ENST00000543058,;MRPL48,non_coding_transcript_exon_variant,,ENST00000543374,;	T	ENST00000310614	Transcript	missense_variant	903/1536	247/639	83/212	G/W	Ggg/Tgg		1		1	MRPL48	HGNC	HGNC:16653	protein_coding	YES	CCDS44676.1	ENSP00000308717	Q96GC5		UPI0000073BDE	NM_016055.5	deleterious(0)		5/8		hmmpanther:PTHR13473																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	93	73844852	73844852	G	T	1	0	0	0	0	1	0	0	0	9787	1232	43	2		2	MRPL48	11	73844852	Missense_Mutation	SNP	G	C3N-02155_TP	1002145	73844852	61241770	98	30608											
MAP6	0	.	GRCh38	chr11	75587812	75587812	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggctcaggaatcctaggAccttgatcctttagagactc	11	10	9	11	0	1	2	1	1	0	1	4	5	3	4	3	3	0	1	3	3	3	4	novel		C3N-02155_TP	C3N-02155_NB	A	A																c.1689T>A	p.=	p.G563G	ENST00000304771	4/4	415	361	54	294	294	0	strelka-varscan-mutect	MAP6,synonymous_variant,p.=,ENST00000304771,NM_033063.1;MAP6,synonymous_variant,p.=,ENST00000526740,;CTD-2530H12.4,intron_variant,,ENST00000527803,;MAP6,downstream_gene_variant,,ENST00000526689,;	T	ENST00000304771	Transcript	synonymous_variant	2440/3334	1689/2442	563/813	G	ggT/ggA		1		-1	MAP6	HGNC	HGNC:6868	protein_coding	YES	CCDS31641.1	ENSP00000307093	Q96JE9		UPI0000251E6A	NM_033063.1			4/4		hmmpanther:PTHR14759,hmmpanther:PTHR14759:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	93	75587812	75587812	A	T	1	0	0	0	0	0	0	0	1	9188	262	10	4		4	MAP6	11	75587812	Silent	SNP	A	C3N-02155_TP	1742960	75587812	59498810	99	30609											
C11orf54	0	.	GRCh38	chr11	93755240	93755240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttattcagacagaaagtgaaCacaagcctcctgtaaatgga	16	9	8	8	0	1	3	1	1	0	2	2	4	2	4	2	1	2	1	2	1	6	3	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.361C>T	p.His121Tyr	p.H121Y	ENST00000331239	6/9	217	188	29	235	234	1	strelka-varscan-mutect	C11orf54,missense_variant,p.His121Tyr,ENST00000528288,NM_014039.3;C11orf54,missense_variant,p.His121Tyr,ENST00000331239,NM_001286068.1,NM_001286069.1;C11orf54,missense_variant,p.His102Tyr,ENST00000540113,NM_001286070.1;C11orf54,missense_variant,p.His121Tyr,ENST00000528099,NM_001286067.1;C11orf54,missense_variant,p.His121Tyr,ENST00000354421,;C11orf54,missense_variant,p.His121Tyr,ENST00000526335,;C11orf54,missense_variant,p.His121Tyr,ENST00000527363,;C11orf54,missense_variant,p.His10Tyr,ENST00000533154,;C11orf54,missense_variant,p.His102Tyr,ENST00000530620,;C11orf54,intron_variant,,ENST00000617482,NM_001286071.1;C11orf54,intron_variant,,ENST00000531650,;TAF1D,intron_variant,,ENST00000527690,;C11orf54,downstream_gene_variant,,ENST00000533585,;C11orf54,downstream_gene_variant,,ENST00000527003,;C11orf54,downstream_gene_variant,,ENST00000530279,;	T	ENST00000331239	Transcript	missense_variant	540/2522	361/948	121/315	H/Y	Cac/Tac		1		1	C11orf54	HGNC	HGNC:30204	protein_coding	YES	CCDS66204.1	ENSP00000331209	Q9H0W9	A0A024R396	UPI00000498C8	NM_001286068.1,NM_001286069.1	tolerated(0.09)		6/9		Pfam_domain:PF08925,hmmpanther:PTHR13204,SMART_domains:SM01168,Superfamily_domains:SSF117856																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	93	93755240	93755240	C	T	1	0	0	0	0	1	0	0	0	1787	478	17	3		3	C11orf54	11	93755240	Missense_Mutation	SNP	C	C3N-02155_TP	18167428	93755240	41331382	100	30610											
KRT80	0	.	GRCh38	chr12	52191612	52191612	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtgctcaccttgccaatTagggaggcaaatttatcatt	10	14	8	9	0	2	0	2	0	0	0	2	1	2	1	2	2	2	2	2	2	4	6			C3N-02155_TP	C3N-02155_NB	T	T																c.291A>T	p.=	p.L97L	ENST00000394815	1/9	112	93	19	69	69	0	strelka-varscan-mutect	KRT80,synonymous_variant,p.=,ENST00000313234,NM_001081492.1;KRT80,synonymous_variant,p.=,ENST00000394815,NM_182507.2;	A	ENST00000394815	Transcript	synonymous_variant	389/3859	291/1359	97/452	L	ctA/ctT	COSM5470041,COSM5470042	1		-1	KRT80	HGNC	HGNC:27056	protein_coding	YES	CCDS8821.2	ENSP00000378292	Q6KB66		UPI0000160118	NM_182507.2			1/9		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF185,SMART_domains:SM01391,Superfamily_domains:SSF64593											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												A	2	1	93	52191612	52191612	T	A	1	0	0	0	0	0	0	0	1	8376	1741	61	4		4	KRT80	12	52191612	Silent	SNP	T	C3N-02155_TP		52191612	81083697	101	30611											
LRP1	0	.	GRCh38	chr12	57179876	57179876	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaagcagatcaatgtggcCcggctggatggctccttcaa	11	8	12	10	1	2	2	2	0	0	2	3	3	3	3	2	4	1	3	2	4	4	1	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.5061C>T	p.=	p.A1687A	ENST00000243077	30/89	286	252	34	253	253	0	strelka-varscan-mutect	LRP1,synonymous_variant,p.=,ENST00000243077,NM_002332.2;	T	ENST00000243077	Transcript	synonymous_variant	5527/14897	5061/13635	1687/4544	A	gcC/gcT		1		1	LRP1	HGNC	HGNC:6692	protein_coding	YES	CCDS8932.1	ENSP00000243077	Q07954		UPI00001B044F	NM_002332.2			30/89		Gene3D:2.120.10.30,PROSITE_profiles:PS51120,SMART_domains:SM00135,Superfamily_domains:SSF63825																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	93	57179876	57179876	C	T	1	0	0	0	0	0	0	0	1	8846	610	22	3		3	LRP1	12	57179876	Silent	SNP	C	C3N-02155_TP	4988264	57179876	76095433	102	30612											
TSPAN19	0	.	GRCh38	chr12	85017558	85017558	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattttctttgttcttattCtttatccagtctgtgtaatt	7	23	5	6	0	4	0	0	0	4	0	5	1	5	0	1	0	0	2	1	0	4	10			C3N-02155_TP	C3N-02155_NB	C	C																c.492G>A	p.=	p.K164K	ENST00000532498	7/9	282	228	54	211	210	1	strelka-mutect	TSPAN19,synonymous_variant,p.=,ENST00000532498,NM_001100917.1;TSPAN19,synonymous_variant,p.=,ENST00000525452,;TSPAN19,non_coding_transcript_exon_variant,,ENST00000547403,;TSPAN19,3_prime_UTR_variant,,ENST00000433494,;TSPAN19,non_coding_transcript_exon_variant,,ENST00000532628,;TSPAN19,downstream_gene_variant,,ENST00000552392,;TSPAN19,upstream_gene_variant,,ENST00000529820,;	T	ENST00000532498	Transcript	synonymous_variant	573/998	492/747	164/248	K	aaG/aaA	COSM944011	1		-1	TSPAN19	HGNC	HGNC:31886	protein_coding	YES	CCDS44949.1	ENSP00000433816	P0C672		UPI000003F7BD	NM_001100917.1			7/9		hmmpanther:PTHR19282:SF211,hmmpanther:PTHR19282,PIRSF_domain:PIRSF002419,Pfam_domain:PF00335,Superfamily_domains:0037997											1						LOW	1	SNV	5		1	1										PASS		.	.												T	2	4	93	85017558	85017558	C	T	1	0	0	0	0	0	0	0	1	17148	912	32	3		3	TSPAN19	12	85017558	Silent	SNP	C	C3N-02155_TP	27837682	85017558	48257751	103	30613											
MED13L	0	.	GRCh38	chr12	116008728	116008728	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttcctgacctcgtggcTgagggctgagtgttggtggc	3	13	16	9	1	0	3	0	3	0	0	2	3	1	3	2	4	0	4	2	4	0	2	novel		C3N-02155_TP	C3N-02155_NB	T	T																c.1685A>C	p.Gln562Pro	p.Q562P	ENST00000281928	10/31	380	318	62	250	250	0	strelka-varscan-mutect	MED13L,missense_variant,p.Gln562Pro,ENST00000281928,NM_015335.4;MED13L,non_coding_transcript_exon_variant,,ENST00000549755,;	G	ENST00000281928	Transcript	missense_variant	1892/14234	1685/6633	562/2210	Q/P	cAg/cCg		1		-1	MED13L	HGNC	HGNC:22962	protein_coding	YES	CCDS9177.1	ENSP00000281928	Q71F56		UPI0000241C1E	NM_015335.4	tolerated(0.19)		10/31		hmmpanther:PTHR10791,hmmpanther:PTHR10791:SF64,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	93	116008728	116008728	T	G	1	0	0	0	0	1	0	0	0	9370	1580	55	5		5	MED13L	12	116008728	Missense_Mutation	SNP	T	C3N-02155_TP	30991170	116008728	17266581	104	30614											
GCN1	0	.	GRCh38	chr12	120157859	120157859	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccaacctcgtccaccCgcccgggtggggtgttgggg	3	7	15	16	3	0	0	0	0	0	0	2	0	1	0	6	5	2	1	6	5	1	1	rs372573006		C3N-02155_TP	C3N-02155_NB	C	C																c.3077G>T	p.Arg1026Leu	p.R1026L	ENST00000300648	26/58	108	86	22	75	74	1	strelka-varscan-mutect	GCN1,missense_variant,p.Arg1026Leu,ENST00000300648,NM_006836.1;MIR4498,upstream_gene_variant,,ENST00000577599,;GCN1,downstream_gene_variant,,ENST00000550471,;GCN1,downstream_gene_variant,,ENST00000547369,;GCN1,upstream_gene_variant,,ENST00000551920,;GCN1,upstream_gene_variant,,ENST00000548132,;	A	ENST00000300648	Transcript	missense_variant	3090/8675	3077/8016	1026/2671	R/L	cGg/cTg	rs372573006,COSM3687992	1		-1	GCN1	HGNC	HGNC:4199	protein_coding	YES	CCDS41847.1	ENSP00000300648	Q92616		UPI0000451CA7	NM_006836.1	tolerated(0.47)		26/58		Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7,Superfamily_domains:SSF48371											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs372573006	.												A	3	1	93	120157859	120157859	C	A	1	0	0	0	0	1	0	0	0	6169	652	23	1		1	GCN1	12	120157859	Missense_Mutation	SNP	C	C3N-02155_TP	4149131	120157859	13117450	105	30615											
HPD	0	.	GRCh38	chr12	121857788	121857788	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccaacccagaaggtcacaGagtggaagtggaggaatcgg	13	5	15	8	1	1	2	1	0	0	2	2	5	1	5	2	5	2	0	2	5	4	0	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.62C>G	p.Ser21Cys	p.S21C	ENST00000289004	3/14	778	622	156	538	538	0	strelka-varscan-mutect	HPD,missense_variant,p.Ser21Cys,ENST00000289004,NM_002150.2;HPD,5_prime_UTR_variant,,ENST00000543163,NM_001171993.1;RP11-7M8.2,downstream_gene_variant,,ENST00000543848,;HPD,non_coding_transcript_exon_variant,,ENST00000535114,;HPD,upstream_gene_variant,,ENST00000542159,;	C	ENST00000289004	Transcript	missense_variant	98/1419	62/1182	21/393	S/C	tCt/tGt		1		-1	HPD	HGNC	HGNC:5147	protein_coding	YES	CCDS9224.1	ENSP00000289004		A0A0B4J1R4	UPI0000366920	NM_002150.2	deleterious(0)		3/14		Gene3D:3.10.180.10,Pfam_domain:PF00903,PIRSF_domain:PIRSF009283,hmmpanther:PTHR11959,hmmpanther:PTHR11959:SF9,Superfamily_domains:SSF54593,TIGRFAM_domain:TIGR01263																	MODERATE	1	SNV	1			1										PASS		rs1390934610	.												C	3	2	93	121857788	121857788	G	C	1	0	0	0	0	1	0	0	0	7226	942	33	4		4	HPD	12	121857788	Missense_Mutation	SNP	G	C3N-02155_TP	1699929	121857788	11417521	106	30616											
DNAH10	0	.	GRCh38	chr12	123924364	123924364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatatcattcttttatcaGaaatgttttcagacaacttt	14	17	4	6	0	4	3	3	0	1	3	4	3	4	3	0	0	1	1	0	0	5	7	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.11344G>A	p.Glu3782Lys	p.E3782K	ENST00000638045	66/78	229	206	23	196	196	0	strelka-varscan-mutect	DNAH10,missense_variant,p.Glu3843Lys,ENST00000409039,;DNAH10,missense_variant,p.Glu3782Lys,ENST00000638045,NM_207437.3;DNAH10OS,downstream_gene_variant,,ENST00000514254,;RP11-380L11.4,downstream_gene_variant,,ENST00000602952,;CCDC92,intron_variant,,ENST00000544798,;CCDC92,intron_variant,,ENST00000542348,;DNAH10,upstream_gene_variant,,ENST00000492261,;DNAH10,upstream_gene_variant,,ENST00000545078,;	A	ENST00000638045	Transcript	missense_variant	11369/13678	11344/13416	3782/4471	E/K	Gaa/Aaa		1		1	DNAH10	HGNC	HGNC:2941	protein_coding	YES	CCDS9255.2	ENSP00000489675			UPI00014F7B89	NM_207437.3	tolerated(0.26)		66/78		hmmpanther:PTHR10676:SF135,hmmpanther:PTHR10676,Pfam_domain:PF03028																	MODERATE		SNV				1										PASS		.	.												A	3	1	93	123924364	123924364	G	A	1	0	0	0	0	1	0	0	0	4411	943	33	3		3	DNAH10	12	123924364	Missense_Mutation	SNP	G	C3N-02155_TP	2066576	123924364	9350945	107	30617											
PABPC3	0	.	GRCh38	chr13	25097988	25097988	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgctcgagtctccagagtCactccgttctaaggttgatg	8	13	10	10	2	3	2	1	1	2	1	6	3	4	2	2	1	1	3	2	1	2	4	rs796930309		C3N-02155_TP	C3N-02155_NB	C	C																c.1790C>G	p.Ser597Ter	p.S597*	ENST00000281589	1/1	571	461	110	510	510	0	strelka-varscan-mutect	PABPC3,stop_gained,p.Ser597Ter,ENST00000281589,NM_030979.2;	G	ENST00000281589	Transcript	stop_gained	2121/3387	1790/1896	597/631	S/*	tCa/tGa	rs796930309	1		1	PABPC3	HGNC	HGNC:8556	protein_coding	YES	CCDS9311.1	ENSP00000281589	Q9H361	Q5VX58	UPI00001311AB	NM_030979.2			1/1		PROSITE_profiles:PS51309,Pfam_domain:PF00658,TIGRFAM_domain:TIGR01628,Gene3D:1.10.1900.10,SMART_domains:SM00517,Superfamily_domains:SSF63570																	HIGH	1	SNV				1										PASS		rs796930309	.												G	4	3	93	25097988	25097988	C	G	1	0	0	0	0	0	1	0	0	11442	838	29	4		4	PABPC3	13	25097988	Nonsense_Mutation	SNP	C	C3N-02155_TP		25097988	89266340	108	30618											
BRCA2	0	.	GRCh38	chr13	32341173	32341173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaagaattggaaaaagaaGaggagagccccttatcttag	16	9	10	6	0	2	4	1	0	1	4	2	6	2	5	2	2	1	0	2	2	7	4	rs587782174		C3N-02155_TP	C3N-02155_NB	G	G																c.6818G>A	p.Arg2273Lys	p.R2273K	ENST00000380152	11/27	179	128	51	251	251	0	strelka-varscan-mutect	BRCA2,missense_variant,p.Arg2273Lys,ENST00000380152,;BRCA2,missense_variant,p.Arg2273Lys,ENST00000544455,NM_000059.3;BRCA2,non_coding_transcript_exon_variant,,ENST00000614259,;	A	ENST00000380152	Transcript	missense_variant	7051/11986	6818/10257	2273/3418	R/K	aGa/aAa	rs587782174	1		1	BRCA2	HGNC	HGNC:1101	protein_coding	YES	CCDS9344.1	ENSP00000369497	P51587		UPI00001FCBCC		tolerated(0.07)		11/27		hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,PIRSF_domain:PIRSF002397										uncertain_significance							MODERATE	1	SNV	5		1	1										PASS		rs587782174	.												A	3	1	93	32341173	32341173	G	A	1	0	0	0	0	1	0	0	0	1669	942	33	3		3	BRCA2	13	32341173	Missense_Mutation	SNP	G	C3N-02155_TP	7243185	32341173	82023155	109	30619											
ARL11	0	.	GRCh38	chr13	49630459	49630459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggccaccatgggttctgtGaattccagaggtcacaaggc	9	9	13	10	0	2	2	1	1	1	1	3	2	3	2	3	4	0	1	3	4	2	2	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.12G>A	p.=	p.V4V	ENST00000282026	2/2	113	84	29	87	87	0	strelka-varscan-mutect	ARL11,synonymous_variant,p.=,ENST00000282026,NM_138450.5;ARL11,intron_variant,,ENST00000490932,;	A	ENST00000282026	Transcript	synonymous_variant	347/3760	12/591	4/196	V	gtG/gtA		1		1	ARL11	HGNC	HGNC:24046	protein_coding	YES	CCDS9419.1	ENSP00000282026	Q969Q4		UPI0000073EDE	NM_138450.5			2/2		hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF172,SMART_domains:SM00177,SMART_domains:SM00178																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	93	49630459	49630459	G	A	1	0	0	0	0	0	0	0	1	1064	1277	45	3		3	ARL11	13	49630459	Silent	SNP	G	C3N-02155_TP	17289286	49630459	64733869	110	30620											
KCNRG	0	.	GRCh38	chr13	50020445	50020445	+	Frame_Shift_Del	DEL	A	A	-																															ataccagagcaatctcagatAaagaaatgaagttgtctatc																								novel		C3N-02155_TP	C3N-02155_NB	A	A																c.812delA	p.Lys271ArgfsTer27	p.K271Rfs*27	ENST00000312942	2/2	144	116	28	159	159	0	sindel-varindel-pindel	KCNRG,frameshift_variant,p.Lys271ArgfsTer27,ENST00000312942,NM_173605.1;KCNRG,3_prime_UTR_variant,,ENST00000360473,NM_199464.2;TRIM13,downstream_gene_variant,,ENST00000378182,NM_213590.2,NM_052811.3;DLEU2,intron_variant,,ENST00000621282,;TRIM13,non_coding_transcript_exon_variant,,ENST00000478111,;TRIM13,non_coding_transcript_exon_variant,,ENST00000474805,;	-	ENST00000312942	Transcript	frameshift_variant	1050/1527	810/819	270/272	I/X	atA/at		1		1	KCNRG	HGNC	HGNC:18893	protein_coding	YES	CCDS9424.1	ENSP00000324191	Q8N5I3		UPI000000D8AF	NM_173605.1			2/2																			HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	93	50020445	50020445	A	-	1	0	1	0	1	0	0	0	0	8003	352	13	0		0	KCNRG	13	50020445	Frame_Shift_Del	DEL	A	C3N-02155_TP	389986	50020445	64343883	111	30621											
OLFM4	0	.	GRCh38	chr13	53043199	53043199	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcgtggctctgaagaccaAgctgaaagagtgtgaggcct	12	8	13	8	1	1	5	0	3	1	2	2	5	1	5	2	2	1	2	2	2	4	0	novel		C3N-02155_TP	C3N-02155_NB	A	A																c.665A>T	p.Lys222Met	p.K222M	ENST00000219022	4/5	194	164	30	197	197	0	strelka-varscan-mutect	OLFM4,missense_variant,p.Lys222Met,ENST00000219022,NM_006418.4;	T	ENST00000219022	Transcript	missense_variant	743/2897	665/1533	222/510	K/M	aAg/aTg		1		1	OLFM4	HGNC	HGNC:17190	protein_coding	YES	CCDS9440.1	ENSP00000219022	Q6UX06	A0A024QZ95	UPI00000359F0	NM_006418.4	deleterious(0)		4/5		hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	93	53043199	53043199	A	T	1	0	0	0	0	1	0	0	0	10930	72	3	4		4	OLFM4	13	53043199	Missense_Mutation	SNP	A	C3N-02155_TP	3022754	53043199	61321129	112	30622											
CCDC168	0	.	GRCh38	chr13	102737692	102737692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctcttctttctgttgCatgtaatcttttgctttttg	4	23	5	9	0	5	0	1	0	4	0	6	0	6	0	1	0	2	4	1	0	1	8	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.13005G>T	p.Met4335Ile	p.M4335I	ENST00000322527	4/4	243	197	46	275	275	0	strelka-varscan-mutect	CCDC168,missense_variant,p.Met4335Ile,ENST00000322527,NM_001146197.1;	A	ENST00000322527	Transcript	missense_variant	13143/21466	13005/21246	4335/7081	M/I	atG/atT		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	tolerated(0.24)		4/4		Pfam_domain:PF15804																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	93	102737692	102737692	C	A	1	0	0	0	0	1	0	0	0	2484	710	25	2		2	CCDC168	13	102737692	Missense_Mutation	SNP	C	C3N-02155_TP	49694493	102737692	11626636	113	30623											
OSGEP	0	.	GRCh38	chr14	20448755	20448755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatgaaagacaggatccctGagaatgagacgtccatcccc	14	6	9	12	1	0	4	0	3	0	3	3	7	3	5	4	1	0	0	4	1	3	0			C3N-02155_TP	C3N-02155_NB	G	G																c.614C>T	p.Ser205Leu	p.S205L	ENST00000206542	6/11	685	637	48	203	202	1	strelka-varscan-mutect	OSGEP,missense_variant,p.Ser205Leu,ENST00000206542,NM_017807.3;OSGEP,downstream_gene_variant,,ENST00000553640,;RP11-203M5.7,upstream_gene_variant,,ENST00000555435,;OSGEP,downstream_gene_variant,,ENST00000556252,;OSGEP,downstream_gene_variant,,ENST00000554699,;OSGEP,3_prime_UTR_variant,,ENST00000555223,;OSGEP,non_coding_transcript_exon_variant,,ENST00000555656,;OSGEP,non_coding_transcript_exon_variant,,ENST00000556124,;OSGEP,non_coding_transcript_exon_variant,,ENST00000554249,;OSGEP,non_coding_transcript_exon_variant,,ENST00000554915,;OSGEP,non_coding_transcript_exon_variant,,ENST00000555785,;OSGEP,downstream_gene_variant,,ENST00000556439,;OSGEP,upstream_gene_variant,,ENST00000553292,;	A	ENST00000206542	Transcript	missense_variant	1036/2002	614/1008	205/335	S/L	tCa/tTa	COSM1300475	1		-1	OSGEP	HGNC	HGNC:18028	protein_coding	YES	CCDS9549.1	ENSP00000206542	Q9NPF4		UPI0000033CBD	NM_017807.3	deleterious(0)		6/11		HAMAP:MF_01446,Pfam_domain:PF00814,hmmpanther:PTHR11735,hmmpanther:PTHR11735:SF14,Superfamily_domains:SSF53067,TIGRFAM_domain:TIGR00329											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	93	20448755	20448755	G	A	1	0	0	0	0	1	0	0	0	11354	1294	45	3		3	OSGEP	14	20448755	Missense_Mutation	SNP	G	C3N-02155_TP		20448755	86594963	114	30624											
FAM179B	0	.	GRCh38	chr14	45073496	45073496	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttaaatcaggctgcatctCaaccaccacatatcaaaaag	16	9	5	11	0	3	0	3	0	1	0	4	0	3	0	2	1	2	3	2	1	6	2	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.5257C>T	p.Gln1753Ter	p.Q1753*	ENST00000361462	20/20	654	512	142	312	311	1	strelka-varscan-mutect	FAM179B,stop_gained,p.Gln1753Ter,ENST00000361462,NM_001308120.1;FAM179B,stop_gained,p.Gln1700Ter,ENST00000361577,NM_015091.2;FAM179B,stop_gained,p.Gln135Ter,ENST00000556823,;FAM179B,3_prime_UTR_variant,,ENST00000557423,;	T	ENST00000361462	Transcript	stop_gained	5440/6375	5257/5322	1753/1773	Q/*	Caa/Taa		1		1	FAM179B	HGNC	HGNC:19959	protein_coding	YES	CCDS76676.1	ENSP00000354917		G3XAE9	UPI000022974E	NM_001308120.1			20/20		hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF6,SMART_domains:SM01349																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	93	45073496	45073496	C	T	1	0	0	0	0	0	1	0	0	5351	827	29	3		3	FAM179B	14	45073496	Nonsense_Mutation	SNP	C	C3N-02155_TP	24624741	45073496	61970222	115	30625											
ATG2B	0	.	GRCh38	chr14	96315560	96315560	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaagtcgtgtttctgtcgGgagaatcactccattcacta	9	12	11	9	2	3	1	2	0	1	1	6	3	4	2	1	2	0	1	1	2	3	3	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.3385C>G	p.Pro1129Ala	p.P1129A	ENST00000359933	22/42	362	320	42	198	198	0	strelka-varscan-mutect	ATG2B,missense_variant,p.Pro1129Ala,ENST00000359933,NM_018036.5;ATG2B,upstream_gene_variant,,ENST00000261834,;ATG2B,downstream_gene_variant,,ENST00000473234,;ATG2B,downstream_gene_variant,,ENST00000488421,;	C	ENST00000359933	Transcript	missense_variant	4279/13684	3385/6237	1129/2078	P/A	Ccg/Gcg		1		-1	ATG2B	HGNC	HGNC:20187	protein_coding	YES	CCDS9944.2	ENSP00000353010	Q96BY7		UPI000155D51F	NM_018036.5	tolerated(0.14)		22/42		hmmpanther:PTHR13190,hmmpanther:PTHR13190:SF20																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	93	96315560	96315560	G	C	1	0	0	0	0	1	0	0	0	1246	1232	43	4		4	ATG2B	14	96315560	Missense_Mutation	SNP	G	C3N-02155_TP	51242064	96315560	10728158	116	30626											
ATP10A	0	.	GRCh38	chr15	25862959	25862959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgccgtcgccgctcgccCttggccgcgccagccgcagg	2	4	14	21	9	0	0	0	0	0	0	2	0	0	0	7	2	1	2	7	2	0	1	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.138G>A	p.=	p.K46K	ENST00000356865	1/21	151	121	30	60	60	0	strelka-varscan-mutect	ATP10A,synonymous_variant,p.=,ENST00000356865,NM_024490.3;ATP10A,synonymous_variant,p.=,ENST00000619904,;RP11-2C7.1,upstream_gene_variant,,ENST00000557558,;ATP10A,upstream_gene_variant,,ENST00000553577,;ATP10A,synonymous_variant,p.=,ENST00000555815,;ATP10A,synonymous_variant,p.=,ENST00000389967,;	T	ENST00000356865	Transcript	synonymous_variant	250/6680	138/4500	46/1499	K	aaG/aaA		1		-1	ATP10A	HGNC	HGNC:13542	protein_coding	YES	CCDS32178.1	ENSP00000349325	O60312		UPI0000124FAB	NM_024490.3			1/21		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF81,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	93	25862959	25862959	C	T	1	0	0	0	0	0	0	0	1	1268	680	24	3		3	ATP10A	15	25862959	Silent	SNP	C	C3N-02155_TP		25862959	76128230	117	30627											
MTMR10	0	.	GRCh38	chr15	30941917	30941917	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaccattctctaaaataCtgctccgtatcactgttctg	12	13	5	11	1	3	0	1	0	2	0	5	1	4	0	2	0	3	3	2	0	6	5	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.1887G>A	p.=	p.Q629Q	ENST00000435680	16/16	544	437	107	415	415	0	strelka-varscan-mutect	MTMR10,synonymous_variant,p.=,ENST00000435680,NM_017762.2;FAN1,3_prime_UTR_variant,,ENST00000362065,NM_014967.4;MTMR10,downstream_gene_variant,,ENST00000563714,;MTMR10,downstream_gene_variant,,ENST00000566981,;MTMR10,3_prime_UTR_variant,,ENST00000568604,;FAN1,3_prime_UTR_variant,,ENST00000565280,;MTMR10,3_prime_UTR_variant,,ENST00000567567,;MTMR10,non_coding_transcript_exon_variant,,ENST00000566338,;MTMR10,intron_variant,,ENST00000568547,;	T	ENST00000435680	Transcript	synonymous_variant	1985/4961	1887/2334	629/777	Q	caG/caA		1		-1	MTMR10	HGNC	HGNC:25999	protein_coding	YES	CCDS45204.1	ENSP00000402537	Q9NXD2	X5D963	UPI00001FE130	NM_017762.2			16/16		PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF39,Pfam_domain:PF12578																	LOW	1	SNV	1			1										PASS		rs1400493880	.												T	2	4	93	30941917	30941917	C	T	1	0	0	0	0	0	0	0	1	9927	564	20	3		3	MTMR10	15	30941917	Silent	SNP	C	C3N-02155_TP	5078958	30941917	71049272	118	30628											
RYR3	0	.	GRCh38	chr15	33662266	33662266	+	Frame_Shift_Del	DEL	C	C	-																															aaacagccgcgtggcctacgCcctgtgcagccacgtggacc																								rs548311351		C3N-02155_TP	C3N-02155_NB	C	C																c.4738delC	p.Leu1580CysfsTer44	p.L1580Cfs*44	ENST00000634891	35/104	306	267	39	220	220	0	sindel-varindel-pindel	RYR3,frameshift_variant,p.Leu1580CysfsTer44,ENST00000634891,NM_001036.4;RYR3,frameshift_variant,p.Leu1580CysfsTer44,ENST00000622037,;RYR3,frameshift_variant,p.Leu1580CysfsTer44,ENST00000415757,NM_001243996.2;RYR3,frameshift_variant,p.Leu1580CysfsTer44,ENST00000389232,;RYR3,frameshift_variant,p.Leu1580CysfsTer44,ENST00000634418,;	-	ENST00000634891	Transcript	frameshift_variant	4837/15591	4736/14613	1579/4870	A/X	gCc/gc	rs548311351,COSM5148421	1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4			35/104		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16											0,1						HIGH	1	deletion	1	2	0,1	1										PASS		.	.												-	7	5	93	33662266	33662266	C	-	1	0	1	0	1	0	0	0	0	14030	739	26	0		0	RYR3	15	33662266	Frame_Shift_Del	DEL	C	C3N-02155_TP	2720349	33662266	68328923	119	30629											
ACTC1	0	.	GRCh38	chr15	34790412	34790412	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatggagagagaaggcatcTtagaagcatttgcggtggac	13	8	15	5	1	1	4	0	0	1	4	1	7	1	5	0	4	2	2	0	4	3	2	novel		C3N-02155_TP	C3N-02155_NB	T	T																c.1134A>T	p.Ter378TyrextTer46	p.*378Yext*46	ENST00000290378	7/7	550	454	96	403	403	0	strelka-varscan-mutect	ACTC1,stop_lost,p.Ter378TyrextTer46,ENST00000290378,NM_005159.4;RP11-814P5.1,intron_variant,,ENST00000503496,;RP11-814P5.1,downstream_gene_variant,,ENST00000558707,;ACTC1,downstream_gene_variant,,ENST00000557860,;ACTC1,downstream_gene_variant,,ENST00000560563,;	A	ENST00000290378	Transcript	stop_lost	1790/4106	1134/1134	378/377	*/Y	taA/taT		1		-1	ACTC1	HGNC	HGNC:143	protein_coding	YES	CCDS10041.1	ENSP00000290378	P68032		UPI0000003F15	NM_005159.4			7/7																			HIGH	1	SNV	1			1										PASS		.	.												A	4	1	93	34790412	34790412	T	A	1	0	0	0	0	0	0	0	0	238	1616	56	4		4	ACTC1	15	34790412	Nonstop_Mutation	SNP	T	C3N-02155_TP	1128146	34790412	67200777	120	30630											
C15orf53	0	.	GRCh38	chr15	38698397	38698397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctacctaactgtgccccGccgttcaccacttcctgtct	5	12	5	19	2	2	0	1	0	1	0	4	0	4	0	7	0	3	1	7	0	2	4	rs143270407		C3N-02155_TP	C3N-02155_NB	G	G																c.392G>T	p.Arg131Leu	p.R131L	ENST00000318792	2/2	351	293	58	257	256	1	strelka-varscan-mutect	C15orf53,missense_variant,p.Arg131Leu,ENST00000318792,NM_207444.2;	T	ENST00000318792	Transcript	missense_variant	402/2043	392/540	131/179	R/L	cGc/cTc	rs143270407,COSM4054239	1		1	C15orf53	HGNC	HGNC:33796	protein_coding	YES	CCDS10048.1	ENSP00000325144	Q8NAA6		UPI000007303A	NM_207444.2	tolerated_low_confidence(0.46)		2/2													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs143270407	.												T	3	4	93	38698397	38698397	G	T	1	0	0	0	0	1	0	0	0	1848	1087	38	1		1	C15orf53	15	38698397	Missense_Mutation	SNP	G	C3N-02155_TP	3907985	38698397	63292792	121	30631											
DMXL2	0	.	GRCh38	chr15	51491588	51491588	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagttaccttttcaatgCatcttcgaagcgtgttaatg	12	14	8	7	2	2	0	1	0	1	0	3	2	2	0	1	0	3	3	1	0	6	5	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.4943G>T	p.Cys1648Phe	p.C1648F	ENST00000543779	20/43	442	374	68	331	331	0	strelka-varscan-mutect	DMXL2,missense_variant,p.Cys1648Phe,ENST00000251076,NM_015263.3;DMXL2,missense_variant,p.Cys1648Phe,ENST00000543779,NM_001174116.1;DMXL2,missense_variant,p.Cys1012Phe,ENST00000449909,NM_001174117.1;RP11-707P17.1,intron_variant,,ENST00000561007,;	A	ENST00000543779	Transcript	missense_variant	5033/10400	4943/9114	1648/3037	C/F	tGc/tTc		1		-1	DMXL2	HGNC	HGNC:2938	protein_coding	YES	CCDS53946.1	ENSP00000441858	Q8TDJ6		UPI00001FE4C2	NM_001174116.1	deleterious(0)		20/43		Pfam_domain:PF12234,hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF11																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	93	51491588	51491588	C	A	1	0	0	0	0	1	0	0	0	4404	710	25	2		2	DMXL2	15	51491588	Missense_Mutation	SNP	C	C3N-02155_TP	12793191	51491588	50499601	122	30632											
FURIN	0	.	GRCh38	chr15	90881347	90881347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcactgccctccagggttCgccccccaagtcctcgatac	7	7	8	19	2	0	0	0	0	0	0	4	1	2	0	6	1	3	2	6	1	2	2	rs767680799		C3N-02155_TP	C3N-02155_NB	C	C																c.1854C>T	p.=	p.F618F	ENST00000618099	16/16	171	132	39	134	134	0	strelka-varscan-mutect	FURIN,synonymous_variant,p.=,ENST00000618099,NM_001289824.1;FURIN,synonymous_variant,p.=,ENST00000268171,NM_002569.3;FURIN,synonymous_variant,p.=,ENST00000610579,NM_001289823.1;FES,upstream_gene_variant,,ENST00000328850,NM_002005.3;FES,upstream_gene_variant,,ENST00000414248,NM_001143785.1;FES,upstream_gene_variant,,ENST00000394300,NM_001143783.1;FES,upstream_gene_variant,,ENST00000444422,NM_001143784.1;FES,upstream_gene_variant,,ENST00000394302,;FES,upstream_gene_variant,,ENST00000452243,;FES,upstream_gene_variant,,ENST00000559355,;FURIN,downstream_gene_variant,,ENST00000560824,;FES,upstream_gene_variant,,ENST00000443697,;FES,upstream_gene_variant,,ENST00000416779,;FES,upstream_gene_variant,,ENST00000464684,;FES,upstream_gene_variant,,ENST00000470152,;FURIN,downstream_gene_variant,,ENST00000558794,;FES,upstream_gene_variant,,ENST00000481665,;FES,upstream_gene_variant,,ENST00000497945,;FURIN,downstream_gene_variant,,ENST00000560018,;	T	ENST00000618099	Transcript	synonymous_variant	2234/4345	1854/2385	618/794	F	ttC/ttT	rs767680799,COSM3505432	1		1	FURIN	HGNC	HGNC:8568	protein_coding	YES	CCDS10364.1	ENSP00000483552	P09958	A0A024RC70	UPI0000000CC7	NM_001289824.1			16/16		hmmpanther:PTHR10795:SF379,hmmpanther:PTHR10795,Gene3D:2.10.220.10,SMART_domains:SM00261,Superfamily_domains:SSF57184											0,1						LOW		SNV	5		0,1	1										PASS		rs767680799	.												T	2	4	93	90881347	90881347	C	T	1	0	0	0	0	0	0	0	1	5971	883	31	1		1	FURIN	15	90881347	Silent	SNP	C	C3N-02155_TP	39389759	90881347	11109842	123	30633											
ATF7IP2	0	.	GRCh38	chr16	10430957	10430957	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacaaaattggaacaagttGtttgttcgtaccaaaagcca	17	10	7	7	1	0	0	0	0	0	0	1	1	0	1	2	1	4	4	2	1	8	5	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.337G>C	p.Val113Leu	p.V113L	ENST00000396560	3/12	429	364	65	356	356	0	strelka-varscan-mutect	ATF7IP2,missense_variant,p.Val113Leu,ENST00000396560,NM_024997.3;ATF7IP2,missense_variant,p.Val113Leu,ENST00000396559,NM_001256160.1;ATF7IP2,missense_variant,p.Val113Leu,ENST00000356427,;ATF7IP2,missense_variant,p.Val113Leu,ENST00000324570,;ATF7IP2,intron_variant,,ENST00000543967,;ATF7IP2,downstream_gene_variant,,ENST00000562527,;ATF7IP2,downstream_gene_variant,,ENST00000569939,;ATF7IP2,downstream_gene_variant,,ENST00000569900,;ATF7IP2,downstream_gene_variant,,ENST00000562102,;ATF7IP2,downstream_gene_variant,,ENST00000561932,;ATF7IP2,missense_variant,p.Val113Leu,ENST00000568027,;ATF7IP2,missense_variant,p.Val113Leu,ENST00000535850,;	C	ENST00000396560	Transcript	missense_variant	564/3665	337/2049	113/682	V/L	Gtt/Ctt		1		1	ATF7IP2	HGNC	HGNC:20397	protein_coding	YES	CCDS10540.1	ENSP00000379808	Q5U623		UPI00001FEDD8	NM_024997.3	tolerated(0.06)		3/12		hmmpanther:PTHR23210,hmmpanther:PTHR23210:SF23																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	93	10430957	10430957	G	C	1	0	0	0	0	1	0	0	0	1237	1377	48	4		4	ATF7IP2	16	10430957	Missense_Mutation	SNP	G	C3N-02155_TP		10430957	79907388	124	30634											
ITGAD	0	.	GRCh38	chr16	31416221	31416221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	attttgctgcagctccccttCgagaagaactgtgggcaaga	10	10	11	10	1	0	3	0	0	0	3	2	4	1	3	2	1	4	4	2	1	3	3			C3N-02155_TP	C3N-02155_NB	C	C																c.2292C>G	p.Phe764Leu	p.F764L	ENST00000389202	19/30	122	107	15	110	110	0	strelka-mutect	ITGAD,missense_variant,p.Phe764Leu,ENST00000389202,NM_001318185.1,NM_005353.2;	G	ENST00000389202	Transcript	missense_variant	2341/3912	2292/3486	764/1161	F/L	ttC/ttG	COSM3509227	1		1	ITGAD	HGNC	HGNC:6146	protein_coding	YES	CCDS32438.1	ENSP00000373854	Q13349		UPI000004B27A	NM_001318185.1,NM_005353.2	deleterious(0)		19/30		Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,Superfamily_domains:SSF69179											1						MODERATE	1	SNV	1		1	1										PASS		rs1374291141	.												G	3	3	93	31416221	31416221	C	G	1	0	0	0	0	1	0	0	0	7791	883	31	4		4	ITGAD	16	31416221	Missense_Mutation	SNP	C	C3N-02155_TP	20985264	31416221	58922124	125	30635											
GPT2	0	.	GRCh38	chr16	46884836	46884836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcaaggtgcggcccgagCgcagccggcgcgagcgcatc	6	4	16	15	7	1	0	1	0	0	0	2	2	1	0	2	3	5	3	2	3	1	0	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.121C>T	p.Arg41Cys	p.R41C	ENST00000340124	2/12	181	151	30	111	111	0	strelka-varscan-mutect	GPT2,missense_variant,p.Arg41Cys,ENST00000340124,NM_133443.2;GPT2,5_prime_UTR_variant,,ENST00000440783,NM_001142466.1;GPT2,intron_variant,,ENST00000562132,;	T	ENST00000340124	Transcript	missense_variant	233/3984	121/1572	41/523	R/C	Cgc/Tgc		1		1	GPT2	HGNC	HGNC:18062	protein_coding	YES	CCDS10725.1	ENSP00000345282	Q8TD30	A0A024R6R2	UPI000004DBE2	NM_133443.2	tolerated(0.05)		2/12																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	93	46884836	46884836	C	T	1	0	0	0	0	1	0	0	0	6617	782	27	1		1	GPT2	16	46884836	Missense_Mutation	SNP	C	C3N-02155_TP	15468615	46884836	43453509	126	30636											
MT1G	0	.	GRCh38	chr16	56667233	56667233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccggttccccagaagCacgcactcagggacagcctt	10	5	12	14	2	1	1	1	0	0	1	2	3	2	2	4	3	2	3	4	3	2	2	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.173G>A	p.Cys58Tyr	p.C58Y	ENST00000568675	2/2	384	321	63	301	301	0	strelka-varscan-mutect	MT1G,missense_variant,p.Cys58Tyr,ENST00000568675,;MT1G,intron_variant,,ENST00000444837,NM_005950.2;MT1G,intron_variant,,ENST00000379811,NM_001301267.1;MT1G,intron_variant,,ENST00000569500,;MT1H,upstream_gene_variant,,ENST00000569155,;MT1H,upstream_gene_variant,,ENST00000332374,NM_005951.2;	T	ENST00000568675	Transcript	missense_variant	201/628	173/207	58/68	C/Y	tGc/tAc		1		-1	MT1G	HGNC	HGNC:7399	protein_coding			ENSP00000456835		H3BSS0	UPI00024670A3		deleterious_low_confidence(0.04)		2/2																			MODERATE		SNV	1			1										PASS		.	.												T	3	4	93	56667233	56667233	C	T	1	0	0	0	0	1	0	0	0	9885	710	25	3		3	MT1G	16	56667233	Missense_Mutation	SNP	C	C3N-02155_TP	9782397	56667233	33671112	127	30637											
SPG7	0	.	GRCh38	chr16	89553023	89553023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccctgggctttgctcaGatgctccccagagaccagca	7	7	11	16	1	1	2	1	0	0	2	2	3	2	2	5	1	3	4	5	1	0	1	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.1824G>T	p.Gln608His	p.Q608H	ENST00000268704	14/17	571	476	95	412	412	0	strelka-varscan-mutect	SPG7,missense_variant,p.Gln198His,ENST00000620811,;SPG7,missense_variant,p.Gln608His,ENST00000268704,NM_003119.3;SPG7,upstream_gene_variant,,ENST00000566682,;SPG7,upstream_gene_variant,,ENST00000565891,;SPG7,missense_variant,p.Gln123His,ENST00000561911,;SPG7,3_prime_UTR_variant,,ENST00000569820,;SPG7,3_prime_UTR_variant,,ENST00000566221,;SPG7,non_coding_transcript_exon_variant,,ENST00000561702,;SPG7,non_coding_transcript_exon_variant,,ENST00000565370,;SPG7,non_coding_transcript_exon_variant,,ENST00000568205,;SPG7,upstream_gene_variant,,ENST00000569720,;SPG7,downstream_gene_variant,,ENST00000563218,;	T	ENST00000268704	Transcript	missense_variant	1839/3076	1824/2388	608/795	Q/H	caG/caT		1		1	SPG7	HGNC	HGNC:11237	protein_coding	YES	CCDS10977.1	ENSP00000268704	Q9UQ90		UPI0000031FAA	NM_003119.3	deleterious(0.01)		14/17		HAMAP:MF_01458,hmmpanther:PTHR23076:SF68,hmmpanther:PTHR23076,Pfam_domain:PF01434,TIGRFAM_domain:TIGR01241,Superfamily_domains:SSF140990																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	93	89553023	89553023	G	T	1	0	0	0	0	1	0	0	0	15395	956	33	2		2	SPG7	16	89553023	Missense_Mutation	SNP	G	C3N-02155_TP	32885790	89553023	785322	128	30638											
KRT10	0	.	GRCh38	chr17	40819067	40819067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggaactgccgccgtggcCgccgccgtggccgccgccgg	2	3	17	19	9	0	0	0	0	0	0	0	1	0	1	9	4	2	0	9	4	1	0	rs753205769		C3N-02155_TP	C3N-02155_NB	C	C																c.1468G>A	p.Gly490Ser	p.G490S	ENST00000269576	7/8	343	321	22	220	218	2	varscan-mutect	KRT10,missense_variant,p.Gly490Ser,ENST00000269576,NM_000421.3;TMEM99,upstream_gene_variant,,ENST00000622451,NM_001195386.1;TMEM99,upstream_gene_variant,,ENST00000301665,NM_001195387.1,NM_145274.3;TMEM99,upstream_gene_variant,,ENST00000436612,;KRT10,upstream_gene_variant,,ENST00000635956,;TMEM99,upstream_gene_variant,,ENST00000496847,;	T	ENST00000269576	Transcript	missense_variant	1478/2124	1468/1755	490/584	G/S	Ggc/Agc	rs753205769	1		-1	KRT10	HGNC	HGNC:6413	protein_coding	YES	CCDS11377.1	ENSP00000269576	P13645		UPI000013D842	NM_000421.3	tolerated_low_confidence(0.69)		7/8		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF137,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs753205769	.												T	3	4	93	40819067	40819067	C	T	1	0	0	0	0	1	0	0	0	8330	652	23	1		1	KRT10	17	40819067	Missense_Mutation	SNP	C	C3N-02155_TP		40819067	42438374	129	30639											
P3H4	0	.	GRCh38	chr17	41809746	41809747	+	Frame_Shift_Del	DEL	CA	CA	-																															aggtagtggtacatggtggcCacgaacttgtccacgaagta																								novel		C3N-02155_TP	C3N-02155_NB	CA	CA																c.875_876delTG	p.Val292GlyfsTer13	p.V292Gfs*13	ENST00000355468	5/9	193	175	18	133	133	0	sindel-pindel	P3H4,frameshift_variant,p.Val292GlyfsTer13,ENST00000355468,;P3H4,frameshift_variant,p.Val292GlyfsTer13,ENST00000393928,NM_006455.2;P3H4,intron_variant,,ENST00000592026,;FKBP10,upstream_gene_variant,,ENST00000321562,NM_021939.3;FKBP10,upstream_gene_variant,,ENST00000585664,;FKBP10,upstream_gene_variant,,ENST00000585922,;P3H4,downstream_gene_variant,,ENST00000590496,;FKBP10,upstream_gene_variant,,ENST00000429461,;P3H4,intron_variant,,ENST00000587455,;FKBP10,upstream_gene_variant,,ENST00000489591,;P3H4,upstream_gene_variant,,ENST00000484247,;P3H4,downstream_gene_variant,,ENST00000467164,;P3H4,upstream_gene_variant,,ENST00000465097,;	-	ENST00000355468	Transcript	frameshift_variant	1342-1343/2791	875-876/1314	292/437	V/X	gTG/g		1		-1	P3H4	HGNC	HGNC:16946	protein_coding	YES	CCDS11408.1	ENSP00000347649	Q92791		UPI00001302A2				5/9		Gene3D:1.25.40.10,hmmpanther:PTHR13986,hmmpanther:PTHR13986:SF4																	HIGH		deletion	2			1										PASS		.	.												-	7	5	93	41809746	41809746	CA	-	1	0	1	0	1	0	0	0	0	11432	581	21	0		0	P3H4	17	41809746	Frame_Shift_Del	DEL	CA	C3N-02155_TP	990679	41809746	41447695	130	30640											
SLC4A1	0	.	GRCh38	chr17	44259903	44259903	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaggactgcaggcttcacaCcccccagggcctccagctct	7	7	9	18	0	3	0	2	0	1	0	4	1	4	1	5	3	2	3	5	3	0	1			C3N-02155_TP	C3N-02155_NB	C	C																c.515G>T	p.Gly172Val	p.G172V	ENST00000262418	7/20	871	742	129	511	511	0	strelka-varscan-mutect	SLC4A1,missense_variant,p.Gly172Val,ENST00000262418,NM_000342.3;SLC4A1,missense_variant,p.Gly172Val,ENST00000399246,;SLC4A1,downstream_gene_variant,,ENST00000471005,;SLC4A1,non_coding_transcript_exon_variant,,ENST00000497360,;SLC4A1,downstream_gene_variant,,ENST00000498270,;	A	ENST00000262418	Transcript	missense_variant	671/4965	515/2736	172/911	G/V	gGt/gTt	COSM3190900,COSM706167	1		-1	SLC4A1	HGNC	HGNC:11027	protein_coding	YES	CCDS11481.1	ENSP00000262418	P02730		UPI00000375B8	NM_000342.3	deleterious(0.03)		7/20		Gene3D:1hynR00,Pfam_domain:PF07565,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1222836115	.												A	3	1	93	44259903	44259903	C	A	1	0	0	0	0	1	0	0	0	14927	507	18	2		2	SLC4A1	17	44259903	Missense_Mutation	SNP	C	C3N-02155_TP	2450157	44259903	38997538	131	30641											
DBF4B	0	.	GRCh38	chr17	44750642	44750642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgatggacagaatcactaGatggtgtgatgggacctcct	11	9	13	8	1	1	3	1	1	0	2	2	6	2	5	2	3	1	0	2	3	2	1	rs367600377		C3N-02155_TP	C3N-02155_NB	G	G																c.1237G>C	p.Asp413His	p.D413H	ENST00000315005	14/14	207	183	24	124	124	0	strelka-varscan-mutect	DBF4B,missense_variant,p.Asp413His,ENST00000315005,NM_145663.2;DBF4B,missense_variant,p.Asp413His,ENST00000393547,NM_025104.3;DBF4B,downstream_gene_variant,,ENST00000526924,;DBF4B,downstream_gene_variant,,ENST00000527862,;	C	ENST00000315005	Transcript	missense_variant	1375/2997	1237/1848	413/615	D/H	Gat/Cat	rs367600377,COSM3795676,COSM3795677	1		1	DBF4B	HGNC	HGNC:17883	protein_coding	YES	CCDS11485.1	ENSP00000323663	Q8NFT6		UPI00000473C7	NM_145663.2	deleterious_low_confidence(0)		14/14		hmmpanther:PTHR15375:SF24,hmmpanther:PTHR15375											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs367600377	.												C	3	2	93	44750642	44750642	G	C	1	0	0	0	0	1	0	0	0	4049	942	33	4		4	DBF4B	17	44750642	Missense_Mutation	SNP	G	C3N-02155_TP	490739	44750642	38506799	132	30642											
ANKFN1	0	.	GRCh38	chr17	56440386	56440386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaatcatcatggataatCtgcagactctgagatgcaca	15	9	9	8	0	4	3	2	1	2	3	4	6	4	4	0	1	2	2	0	1	2	1	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.979C>A	p.Leu327Met	p.L327M	ENST00000318698	8/17	245	224	21	190	189	1	strelka-varscan-mutect	ANKFN1,missense_variant,p.Leu327Met,ENST00000566473,;ANKFN1,missense_variant,p.Leu327Met,ENST00000318698,NM_153228.2;ANKFN1,missense_variant,p.Leu416Met,ENST00000635860,;	A	ENST00000318698	Transcript	missense_variant	1014/2426	979/2292	327/763	L/M	Ctg/Atg		1		1	ANKFN1	HGNC	HGNC:26766	protein_coding	YES	CCDS32686.1	ENSP00000321627	Q8N957		UPI000049DE57	NM_153228.2	tolerated(0.23)		8/17		PROSITE_profiles:PS50853,hmmpanther:PTHR21437,hmmpanther:PTHR21437:SF3,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	93	56440386	56440386	C	A	1	0	0	0	0	1	0	0	0	727	912	32	2		2	ANKFN1	17	56440386	Missense_Mutation	SNP	C	C3N-02155_TP	11689744	56440386	26817055	133	30643											
RPS6KB1	0	.	GRCh38	chr17	59934520	59934520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatgtatgacatgctgactgGagcagtaggtgcacagttaa	13	10	12	6	0	0	2	0	2	0	0	0	3	0	3	0	2	3	6	0	2	4	3			C3N-02155_TP	C3N-02155_NB	G	G																c.866G>A	p.Gly289Glu	p.G289E	ENST00000225577	9/15	307	266	41	165	165	0	strelka-varscan-mutect	RPS6KB1,missense_variant,p.Gly236Glu,ENST00000393021,NM_001272044.1;RPS6KB1,missense_variant,p.Gly289Glu,ENST00000225577,NM_001272060.1,NM_003161.3;RPS6KB1,missense_variant,p.Gly289Glu,ENST00000406116,NM_001272043.1;RPS6KB1,missense_variant,p.Gly266Glu,ENST00000443572,NM_001272042.1;RPS6KB1,3_prime_UTR_variant,,ENST00000472940,;RPS6KB1,non_coding_transcript_exon_variant,,ENST00000590928,;RPS6KB1,non_coding_transcript_exon_variant,,ENST00000587622,;RPS6KB1,downstream_gene_variant,,ENST00000489824,;	A	ENST00000225577	Transcript	missense_variant	887/5375	866/1578	289/525	G/E	gGa/gAa	COSM32843	1		1	RPS6KB1	HGNC	HGNC:10436	protein_coding	YES	CCDS11621.1	ENSP00000225577	P23443		UPI000013C873	NM_001272060.1,NM_003161.3	deleterious(0)		9/15		PROSITE_profiles:PS50011,hmmpanther:PTHR24351:SF85,hmmpanther:PTHR24351,PIRSF_domain:PIRSF000605,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	93	59934520	59934520	G	A	1	0	0	0	0	1	0	0	0	13911	1188	41	3		3	RPS6KB1	17	59934520	Missense_Mutation	SNP	G	C3N-02155_TP	3494134	59934520	23322921	134	30644											
DDX5	0	.	GRCh38	chr17	64502049	64502049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctgtagcaatcagaatagGagcttttccatgtttgaatt	12	15	8	6	0	2	2	1	1	1	1	3	3	3	3	1	1	2	4	1	1	5	6	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.1177C>A	p.Pro393Thr	p.P393T	ENST00000225792	11/13	528	478	50	276	275	1	strelka-varscan-mutect	DDX5,missense_variant,p.Pro393Thr,ENST00000225792,NM_004396.3;DDX5,missense_variant,p.Pro314Thr,ENST00000450599,;DDX5,missense_variant,p.Pro393Thr,ENST00000578804,;CEP95,upstream_gene_variant,,ENST00000556440,NM_138363.1;CEP95,upstream_gene_variant,,ENST00000553412,;DDX5,downstream_gene_variant,,ENST00000585111,;DDX5,downstream_gene_variant,,ENST00000577922,;CEP95,upstream_gene_variant,,ENST00000581056,;DDX5,downstream_gene_variant,,ENST00000577787,;DDX5,downstream_gene_variant,,ENST00000579996,;DDX5,downstream_gene_variant,,ENST00000584279,;DDX5,downstream_gene_variant,,ENST00000578190,;DDX5,downstream_gene_variant,,ENST00000581697,;DDX5,downstream_gene_variant,,ENST00000581806,;CEP95,upstream_gene_variant,,ENST00000580188,;DDX5,downstream_gene_variant,,ENST00000585060,;DDX5,downstream_gene_variant,,ENST00000583212,;DDX5,downstream_gene_variant,,ENST00000579091,;DDX5,downstream_gene_variant,,ENST00000583239,;DDX5,downstream_gene_variant,,ENST00000630471,;DDX5,upstream_gene_variant,,ENST00000579212,;DDX5,upstream_gene_variant,,ENST00000581130,;DDX5,non_coding_transcript_exon_variant,,ENST00000578491,;DDX5,upstream_gene_variant,,ENST00000580026,;DDX5,downstream_gene_variant,,ENST00000583699,;DDX5,upstream_gene_variant,,ENST00000581237,;DDX5,downstream_gene_variant,,ENST00000584500,;DDX5,3_prime_UTR_variant,,ENST00000540698,;DDX5,3_prime_UTR_variant,,ENST00000581693,;DDX5,non_coding_transcript_exon_variant,,ENST00000581230,;DDX5,non_coding_transcript_exon_variant,,ENST00000585317,;DDX5,non_coding_transcript_exon_variant,,ENST00000579461,;DDX5,non_coding_transcript_exon_variant,,ENST00000578758,;CEP95,upstream_gene_variant,,ENST00000579860,;DDX5,downstream_gene_variant,,ENST00000584549,;DDX5,downstream_gene_variant,,ENST00000583894,;DDX5,downstream_gene_variant,,ENST00000585223,;DDX5,downstream_gene_variant,,ENST00000582326,;DDX5,downstream_gene_variant,,ENST00000578400,;DDX5,downstream_gene_variant,,ENST00000581551,;DDX5,downstream_gene_variant,,ENST00000583201,;DDX5,downstream_gene_variant,,ENST00000583562,;	T	ENST00000225792	Transcript	missense_variant	1579/2554	1177/1845	393/614	P/T	Cct/Act		1		-1	DDX5	HGNC	HGNC:2746	protein_coding	YES	CCDS11659.1	ENSP00000225792	P17844		UPI000003B456	NM_004396.3	deleterious(0.05)		11/13		PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF257,hmmpanther:PTHR24031,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	93	64502049	64502049	G	T	1	0	0	0	0	1	0	0	0	4170	1174	41	2		2	DDX5	17	64502049	Missense_Mutation	SNP	G	C3N-02155_TP	4567529	64502049	18755392	135	30645											
C17orf99	0	.	GRCh38	chr17	78164143	78164143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgcaggacagaggggCaggccccagggtggagatga	10	4	17	10	0	1	3	0	1	1	2	1	5	1	4	2	6	1	2	2	6	0	0	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.419C>T	p.Ala140Val	p.A140V	ENST00000340363	4/5	1162	1035	127	580	580	0	strelka-varscan-mutect	C17orf99,missense_variant,p.Ala140Val,ENST00000340363,NM_001163075.1;C17orf99,missense_variant,p.Ala136Val,ENST00000591995,;C17orf99,synonymous_variant,p.=,ENST00000586029,;SYNGR2,upstream_gene_variant,,ENST00000225777,NM_004710.3;SYNGR2,upstream_gene_variant,,ENST00000589168,;SYNGR2,upstream_gene_variant,,ENST00000589711,;SYNGR2,upstream_gene_variant,,ENST00000588282,;SYNGR2,upstream_gene_variant,,ENST00000585591,;C17orf99,non_coding_transcript_exon_variant,,ENST00000451352,;C17orf99,downstream_gene_variant,,ENST00000586999,;C17orf99,upstream_gene_variant,,ENST00000586246,;SYNGR2,upstream_gene_variant,,ENST00000591770,;SYNGR2,upstream_gene_variant,,ENST00000589183,;	T	ENST00000340363	Transcript	missense_variant	474/984	419/798	140/265	A/V	gCa/gTa		1		1	C17orf99	HGNC	HGNC:34490	protein_coding	YES	CCDS54171.1	ENSP00000343493	Q6UX52		UPI000049DE67	NM_001163075.1	tolerated(0.09)		4/5		hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF67																	MODERATE	1	SNV	1			1										PASS		rs1310156119	.												T	3	4	93	78164143	78164143	C	T	1	0	0	0	0	1	0	0	0	1896	710	25	3		3	C17orf99	17	78164143	Missense_Mutation	SNP	C	C3N-02155_TP	13662094	78164143	5093298	136	30646											
DNAH17	0	.	GRCh38	chr17	78426934	78426934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acccatgtttaccttcagccCcaggttcagctccttgagcg	7	11	8	15	1	2	1	2	1	0	0	3	1	3	1	5	1	4	3	5	1	1	5	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.12763G>A	p.Gly4255Arg	p.G4255R	ENST00000389840	78/81	553	488	65	243	242	1	strelka-varscan-mutect	DNAH17,missense_variant,p.Gly4255Arg,ENST00000389840,NM_173628.3;DNAH17,missense_variant,p.Gly4250Arg,ENST00000585328,;PGS1,downstream_gene_variant,,ENST00000262764,NM_024419.4;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586850,;DNAH17,non_coding_transcript_exon_variant,,ENST00000592192,;PGS1,downstream_gene_variant,,ENST00000588281,;PGS1,downstream_gene_variant,,ENST00000586880,;DNAH17,missense_variant,p.Gly1456Arg,ENST00000591369,;DNAH17,non_coding_transcript_exon_variant,,ENST00000590227,;PGS1,downstream_gene_variant,,ENST00000589426,;PGS1,downstream_gene_variant,,ENST00000589425,;PGS1,downstream_gene_variant,,ENST00000588169,;DNAH17,upstream_gene_variant,,ENST00000591647,;	T	ENST00000389840	Transcript	missense_variant	12888/13723	12763/13389	4255/4462	G/R	Ggg/Agg		1		-1	DNAH17	HGNC	HGNC:2946	protein_coding	YES		ENSP00000374490	Q9UFH2		UPI0001B25601	NM_173628.3	deleterious(0)		78/81		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF284,Low_complexity_(Seg):seg																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	93	78426934	78426934	C	T	1	0	0	0	0	1	0	0	0	4416	623	22	3		3	DNAH17	17	78426934	Missense_Mutation	SNP	C	C3N-02155_TP	262791	78426934	4830507	137	30647											
C1QTNF1	0	.	GRCh38	chr17	79046594	79046594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatacaggcccagtcaggaCcaggggctccctgcttcccg	9	6	11	15	1	1	0	1	0	0	0	3	1	3	1	4	4	2	2	4	4	2	2	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.195C>A	p.Asp65Glu	p.D65E	ENST00000339142	4/5	541	485	56	273	272	1	strelka-varscan-mutect	C1QTNF1,missense_variant,p.Asp65Glu,ENST00000339142,NM_198593.3;C1QTNF1,missense_variant,p.Asp65Glu,ENST00000392445,;C1QTNF1,missense_variant,p.Asp65Glu,ENST00000354124,NM_153372.1;C1QTNF1,missense_variant,p.Asp65Glu,ENST00000579760,NM_030968.3;C1QTNF1,missense_variant,p.Asp65Glu,ENST00000580474,;C1QTNF1,missense_variant,p.Asp65Glu,ENST00000580454,;C1QTNF1,missense_variant,p.Asp65Glu,ENST00000581774,;C1QTNF1,missense_variant,p.Asp65Glu,ENST00000583904,;C1QTNF1,5_prime_UTR_variant,,ENST00000311661,NM_198594.2;C1QTNF1,5_prime_UTR_variant,,ENST00000578229,;C1QTNF1,upstream_gene_variant,,ENST00000582625,;	A	ENST00000339142	Transcript	missense_variant	750/3100	195/846	65/281	D/E	gaC/gaA		1		1	C1QTNF1	HGNC	HGNC:14324	protein_coding	YES	CCDS11761.1	ENSP00000340864	Q9BXJ1		UPI0000035539	NM_198593.3	tolerated(1)		4/5																			MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	93	79046594	79046594	C	A	1	0	0	0	0	1	0	0	0	1940	506	18	2		2	C1QTNF1	17	79046594	Missense_Mutation	SNP	C	C3N-02155_TP	619660	79046594	4210847	138	30648											
TSPAN10	0	.	GRCh38	chr17	81645038	81645038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgcacaggccacccacctCaggctgcctaggtccagtgc	7	7	11	16	0	1	0	1	0	0	0	2	0	2	0	5	3	3	2	5	3	1	1	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.197C>T	p.Ser66Leu	p.S66L	ENST00000574882	3/4	353	311	42	162	162	0	strelka-varscan-mutect	TSPAN10,missense_variant,p.Ser66Leu,ENST00000574882,NM_001290212.1;TSPAN10,missense_variant,p.Ser28Leu,ENST00000611590,NM_031945.4;NPLOC4,intron_variant,,ENST00000570300,;TSPAN10,missense_variant,p.Ser28Leu,ENST00000621293,;TSPAN10,non_coding_transcript_exon_variant,,ENST00000571707,;	T	ENST00000574882	Transcript	missense_variant	398/1837	197/1182	66/393	S/L	tCa/tTa		1		1	TSPAN10	HGNC	HGNC:29942	protein_coding	YES	CCDS77130.1	ENSP00000480492		A0A087WWT4	UPI0003F48BD3	NM_001290212.1	tolerated(0.07)		3/4																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	93	81645038	81645038	C	T	1	0	0	0	0	1	0	0	0	17139	838	29	3		3	TSPAN10	17	81645038	Missense_Mutation	SNP	C	C3N-02155_TP	2598444	81645038	1612403	139	30649											
CCDC137	0	.	GRCh38	chr17	81670444	81670444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagtctgagcagaaaaaagCaaaaaaagcgtgagtggagg	19	4	14	4	1	1	3	0	2	1	1	1	5	1	4	0	2	3	2	0	2	7	0	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.488C>A	p.Ala163Glu	p.A163E	ENST00000329214	3/6	250	231	19	133	132	1	strelka-mutect	CCDC137,missense_variant,p.Ala163Glu,ENST00000329214,NM_199287.2;CCDC137,missense_variant,p.Ala172Glu,ENST00000574107,;OXLD1,upstream_gene_variant,,ENST00000571503,NM_001304995.1,NM_001304999.1;OXLD1,upstream_gene_variant,,ENST00000374741,NM_001039842.2;OXLD1,upstream_gene_variant,,ENST00000573786,;CCDC137,missense_variant,p.Ala163Glu,ENST00000575223,;CCDC137,3_prime_UTR_variant,,ENST00000571916,;OXLD1,upstream_gene_variant,,ENST00000575963,;OXLD1,upstream_gene_variant,,ENST00000571757,;OXLD1,upstream_gene_variant,,ENST00000575992,;OXLD1,upstream_gene_variant,,ENST00000571092,;CCDC137,downstream_gene_variant,,ENST00000574200,;CCDC137,upstream_gene_variant,,ENST00000572531,;	A	ENST00000329214	Transcript	missense_variant	891/2468	488/870	163/289	A/E	gCa/gAa		1		1	CCDC137	HGNC	HGNC:33451	protein_coding	YES	CCDS42400.1	ENSP00000329360	Q6PK04		UPI00001983C7	NM_199287.2	tolerated(1)		3/6		hmmpanther:PTHR21838,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1435124182	.												A	3	1	93	81670444	81670444	C	A	1	0	0	0	0	1	0	0	0	2460	710	25	2		2	CCDC137	17	81670444	Missense_Mutation	SNP	C	C3N-02155_TP	25406	81670444	1586997	140	30650											
CDH20	0	.	GRCh38	chr18	61499262	61499262	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtgctggcatcgtgtttaCcatcgacgacaccactggag	9	9	12	11	3	0	0	0	0	0	0	2	3	0	1	2	3	2	3	2	3	1	2	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.323C>A	p.Thr108Asn	p.T108N	ENST00000262717	3/12	214	183	31	124	124	0	strelka-varscan-mutect	CDH20,missense_variant,p.Thr108Asn,ENST00000262717,;CDH20,missense_variant,p.Thr108Asn,ENST00000536675,NM_031891.2;CDH20,missense_variant,p.Thr108Asn,ENST00000538374,;	A	ENST00000262717	Transcript	missense_variant	721/3882	323/2406	108/801	T/N	aCc/aAc		1		1	CDH20	HGNC	HGNC:1760	protein_coding	YES	CCDS11977.1	ENSP00000262717	Q9HBT6		UPI000013D30D		tolerated(0.13)		3/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	93	61499262	61499262	C	A	1	0	0	0	0	1	0	0	0	2809	507	18	2		2	CDH20	18	61499262	Missense_Mutation	SNP	C	C3N-02155_TP		61499262	18874023	141	30651											
NETO1	0	.	GRCh38	chr18	72858999	72858999	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcgaacttcaatatgaTcaaatttgcactcccaagac	14	11	4	12	1	3	2	2	1	1	1	5	3	4	2	1	0	2	1	1	0	5	3	novel		C3N-02155_TP	C3N-02155_NB	T	T																c.296A>G	p.Asp99Gly	p.D99G	ENST00000327305	4/11	437	325	112	313	312	1	strelka-varscan-mutect	NETO1,missense_variant,p.Asp99Gly,ENST00000327305,NM_138966.3;NETO1,missense_variant,p.Asp99Gly,ENST00000583169,NM_001201465.1;NETO1,missense_variant,p.Asp98Gly,ENST00000397929,NM_138999.1;NETO1,missense_variant,p.Asp95Gly,ENST00000579169,;NETO1,intron_variant,,ENST00000579730,;	C	ENST00000327305	Transcript	missense_variant	954/3058	296/1602	99/533	D/G	gAt/gGt		1		-1	NETO1	HGNC	HGNC:13823	protein_coding	YES	CCDS12000.1	ENSP00000313088	Q8TDF5	A0A024R375	UPI000013E59E	NM_138966.3	deleterious(0)		4/11		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF315,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	93	72858999	72858999	T	C	1	0	0	0	0	1	0	0	0	10374	1435	50	5		5	NETO1	18	72858999	Missense_Mutation	SNP	T	C3N-02155_TP	11359737	72858999	7514286	142	30652											
NWD1	0	.	GRCh38	chr19	16762036	16762036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggatccgagagagccaagagGcatggcgtcctggccgactt	9	6	15	11	3	0	2	0	0	0	2	2	6	2	3	4	4	1	1	4	4	1	1	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.2031G>A	p.=	p.R677R	ENST00000524140	8/19	240	150	90	211	211	0	strelka-varscan-mutect	NWD1,synonymous_variant,p.=,ENST00000524140,NM_001007525.3;NWD1,synonymous_variant,p.=,ENST00000379808,;NWD1,synonymous_variant,p.=,ENST00000552788,NM_001290355.1;NWD1,synonymous_variant,p.=,ENST00000549814,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;	A	ENST00000524140	Transcript	synonymous_variant	2449/7641	2031/4299	677/1432	R	agG/agA		1		1	NWD1	HGNC	HGNC:27619	protein_coding	YES	CCDS32945.2	ENSP00000428579	Q149M9		UPI0000D6173E	NM_001007525.3			8/19		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF472																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	93	16762036	16762036	G	A	1	0	0	0	0	0	0	0	1	10854	1194	42	3		3	NWD1	19	16762036	Silent	SNP	G	C3N-02155_TP		16762036	41855580	143	30653											
NWD1	0	.	GRCh38	chr19	16799909	16799909	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggagtctgtcagaacagggGacccttctggacatcctgga	9	9	13	10	0	3	1	1	0	2	1	4	5	4	5	2	5	1	0	2	5	1	1			C3N-02155_TP	C3N-02155_NB	G	G																c.3483G>A	p.=	p.G1161G	ENST00000524140	17/19	90	71	19	77	77	0	strelka-varscan-mutect	NWD1,synonymous_variant,p.=,ENST00000524140,NM_001007525.3;NWD1,synonymous_variant,p.=,ENST00000379808,;NWD1,synonymous_variant,p.=,ENST00000552788,NM_001290355.1;NWD1,intron_variant,,ENST00000549814,;CTD-2538G9.6,upstream_gene_variant,,ENST00000601661,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;	A	ENST00000524140	Transcript	synonymous_variant	3901/7641	3483/4299	1161/1432	G	ggG/ggA	COSM3530153,COSM3530154	1		1	NWD1	HGNC	HGNC:27619	protein_coding	YES	CCDS32945.2	ENSP00000428579	Q149M9		UPI0000D6173E	NM_001007525.3			17/19		Gene3D:2.130.10.10,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF472,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF50978											1,1						LOW	1	SNV	1		1,1	1										PASS		rs1415100108	.												A	2	1	93	16799909	16799909	G	A	1	0	0	0	0	0	0	0	1	10854	1161	41	3		3	NWD1	19	16799909	Silent	SNP	G	C3N-02155_TP	37873	16799909	41817707	144	30654											
RASGRP4	0	.	GRCh38	chr19	38419949	38419949	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgaaaagcaaggacacttTgcgctttttgcccaggcctg	9	10	11	11	2	0	0	0	0	0	0	1	2	0	1	2	2	3	2	2	2	3	3	novel		C3N-02155_TP	C3N-02155_NB	T	T																c.574A>G	p.Lys192Glu	p.K192E	ENST00000615439	6/17	245	208	37	191	191	0	strelka-varscan-mutect	RASGRP4,missense_variant,p.Lys192Glu,ENST00000618320,;RASGRP4,missense_variant,p.Lys192Glu,ENST00000615439,NM_170604.2;RASGRP4,missense_variant,p.Lys192Glu,ENST00000454404,NM_001146205.1;RASGRP4,missense_variant,p.Lys178Glu,ENST00000586305,NM_001146202.1;RASGRP4,missense_variant,p.Lys192Glu,ENST00000587753,NM_001146204.1;RASGRP4,missense_variant,p.Lys192Glu,ENST00000614135,;RASGRP4,missense_variant,p.Lys192Glu,ENST00000433821,NM_001146203.1;RASGRP4,missense_variant,p.Lys192Glu,ENST00000617966,;RASGRP4,missense_variant,p.Lys192Glu,ENST00000293062,NM_001146207.1;RASGRP4,missense_variant,p.Lys192Glu,ENST00000622174,;RASGRP4,missense_variant,p.Lys192Glu,ENST00000426920,NM_001146206.1;RASGRP4,missense_variant,p.Lys192Glu,ENST00000587738,;RASGRP4,missense_variant,p.Lys192Glu,ENST00000589358,;RASGRP4,missense_variant,p.Lys178Glu,ENST00000589474,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000615340,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000592322,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588404,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000589100,;RASGRP4,upstream_gene_variant,,ENST00000588708,;	C	ENST00000615439	Transcript	missense_variant	788/3217	574/2022	192/673	K/E	Aaa/Gaa		1		-1	RASGRP4	HGNC	HGNC:18958	protein_coding	YES	CCDS46068.1	ENSP00000479844	Q8TDF6		UPI0000050F40	NM_170604.2	deleterious(0)		6/17		hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF157,Gene3D:2ii0A01,Superfamily_domains:0041591																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	93	38419949	38419949	T	C	1	0	0	0	0	1	0	0	0	13238	1821	63	5		5	RASGRP4	19	38419949	Missense_Mutation	SNP	T	C3N-02155_TP	21620040	38419949	20197667	145	30655											
PPP1R37	0	.	GRCh38	chr19	45145917	45145917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagggtcctctgagcctCagccaccaccggagccgcct	8	5	10	18	2	2	1	1	1	1	0	3	2	3	2	7	2	3	0	7	2	0	0	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.1861C>A	p.Gln621Lys	p.Q621K	ENST00000221462	11/13	247	207	40	170	170	0	strelka-varscan-mutect	PPP1R37,missense_variant,p.Gln621Lys,ENST00000221462,NM_019121.1;MARK4,intron_variant,,ENST00000587566,;NKPD1,downstream_gene_variant,,ENST00000317951,NM_198478.3;PPP1R37,downstream_gene_variant,,ENST00000544069,;PPP1R37,downstream_gene_variant,,ENST00000544897,;PPP1R37,downstream_gene_variant,,ENST00000545910,;PPP1R37,non_coding_transcript_exon_variant,,ENST00000422370,;PPP1R37,non_coding_transcript_exon_variant,,ENST00000540059,;	A	ENST00000221462	Transcript	missense_variant	2225/3163	1861/2076	621/691	Q/K	Cag/Aag		1		1	PPP1R37	HGNC	HGNC:27607	protein_coding	YES	CCDS56096.1	ENSP00000221462	O75864		UPI000041AA74	NM_019121.1	tolerated(0.41)		11/13		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	93	45145917	45145917	C	A	1	0	0	0	0	1	0	0	0	12491	827	29	2		2	PPP1R37	19	45145917	Missense_Mutation	SNP	C	C3N-02155_TP	6725968	45145917	13471699	146	30656											
PLA2G4C	0	.	GRCh38	chr19	48077807	48077807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccccttgtgaactttcttGcagcctcagtaatcgggctg	6	14	9	12	1	2	1	1	1	1	0	4	1	3	1	3	1	3	3	3	1	2	5	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.892C>A	p.Gln298Lys	p.Q298K	ENST00000599111	11/17	194	166	28	130	130	0	strelka-varscan-mutect	PLA2G4C,missense_variant,p.Gln288Lys,ENST00000354276,NM_001159323.1;PLA2G4C,missense_variant,p.Gln298Lys,ENST00000599111,NM_001159322.1;PLA2G4C,missense_variant,p.Gln288Lys,ENST00000599921,NM_003706.2;PLA2G4C,missense_variant,p.Gln40Lys,ENST00000599300,;PLA2G4C,missense_variant,p.Gln104Lys,ENST00000601946,;PLA2G4C,upstream_gene_variant,,ENST00000595161,;PLA2G4C,intron_variant,,ENST00000599239,;PLA2G4C,upstream_gene_variant,,ENST00000596510,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000593765,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000598185,;	T	ENST00000599111	Transcript	missense_variant	1194/2458	892/1656	298/551	Q/K	Caa/Aaa		1		-1	PLA2G4C	HGNC	HGNC:9037	protein_coding	YES	CCDS59403.1	ENSP00000472546	Q9UP65		UPI00019A89DE	NM_001159322.1	tolerated(0.6)		11/17		PROSITE_profiles:PS51210,SMART_domains:SM00022,Superfamily_domains:SSF52151																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	93	48077807	48077807	G	T	1	0	0	0	0	1	0	0	0	12099	1328	46	2		2	PLA2G4C	19	48077807	Missense_Mutation	SNP	G	C3N-02155_TP	2931890	48077807	10539809	147	30657											
ZNF766	0	.	GRCh38	chr19	52290222	52290222	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagttcatcagccacagttCttcagtttcgccacttcaaa	12	12	5	12	1	5	0	4	0	1	0	6	0	5	0	2	0	1	3	2	0	2	5	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.431C>G	p.Ser144Cys	p.S144C	ENST00000439461	4/4	275	236	39	212	212	0	strelka-varscan-mutect	ZNF766,missense_variant,p.Ser144Cys,ENST00000439461,NM_001010851.2;ZNF766,missense_variant,p.Ser159Cys,ENST00000593612,;ZNF766,missense_variant,p.Ser107Cys,ENST00000595000,;ZNF766,missense_variant,p.Ser85Cys,ENST00000593703,;ZNF766,3_prime_UTR_variant,,ENST00000599581,;ZNF766,downstream_gene_variant,,ENST00000600821,;ZNF766,downstream_gene_variant,,ENST00000595149,;CTD-2525I3.5,intron_variant,,ENST00000594865,;	G	ENST00000439461	Transcript	missense_variant	474/6298	431/1407	144/468	S/C	tCt/tGt		1		1	ZNF766	HGNC	HGNC:28063	protein_coding	YES	CCDS46163.1	ENSP00000409652	Q5HY98		UPI0000202AF7	NM_001010851.2	deleterious(0.02)		4/4																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	93	52290222	52290222	C	G	1	0	0	0	0	1	0	0	0	18723	913	32	4		4	ZNF766	19	52290222	Missense_Mutation	SNP	C	C3N-02155_TP	4212415	52290222	6327394	148	30658											
BRSK1	0	.	GRCh38	chr19	55287283	55287283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaagctccacgacgtctacGagaacaagaaatatttgtag	15	9	8	9	3	2	2	1	0	1	2	3	4	3	2	1	0	3	2	1	0	7	4	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.301G>A	p.Glu101Lys	p.E101K	ENST00000309383	3/19	327	269	58	292	291	1	strelka-varscan-mutect	BRSK1,missense_variant,p.Glu101Lys,ENST00000309383,NM_032430.1;BRSK1,missense_variant,p.Glu117Lys,ENST00000590333,;BRSK1,missense_variant,p.Glu101Lys,ENST00000585418,;BRSK1,missense_variant,p.Glu58Lys,ENST00000592539,;	A	ENST00000309383	Transcript	missense_variant	578/3079	301/2337	101/778	E/K	Gag/Aag		1		1	BRSK1	HGNC	HGNC:18994	protein_coding	YES	CCDS12921.1	ENSP00000310649	Q8TDC3		UPI0000070495	NM_032430.1	deleterious(0)		3/19		PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF130,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	93	55287283	55287283	G	A	1	0	0	0	0	1	0	0	0	1697	1059	37	1		1	BRSK1	19	55287283	Missense_Mutation	SNP	G	C3N-02155_TP	2997061	55287283	3330333	149	30659											
NOP56	0	.	GRCh38	chr20	2654565	2654565	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actggaggagtcatagctgaGatcctgcgaggtgagaccat	11	8	14	8	1	1	2	1	2	0	2	2	7	2	4	2	3	2	1	2	3	1	1	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.360G>A	p.=	p.E120E	ENST00000329276	4/12	356	304	52	210	210	0	strelka-varscan-mutect	NOP56,synonymous_variant,p.=,ENST00000329276,NM_006392.3;NOP56,synonymous_variant,p.=,ENST00000445139,;NOP56,upstream_gene_variant,,ENST00000415272,;IDH3B,downstream_gene_variant,,ENST00000380843,NM_006899.3;IDH3B,downstream_gene_variant,,ENST00000613370,NM_001258384.1;IDH3B,downstream_gene_variant,,ENST00000474315,;IDH3B,downstream_gene_variant,,ENST00000380851,NM_174855.2;SNORA51,upstream_gene_variant,,ENST00000606420,;SNORD86,upstream_gene_variant,,ENST00000391196,;SNORD110,downstream_gene_variant,,ENST00000408189,;SNORD57,upstream_gene_variant,,ENST00000448188,;SNORD56,upstream_gene_variant,,ENST00000413522,;NOP56,downstream_gene_variant,,ENST00000408135,;NOP56,non_coding_transcript_exon_variant,,ENST00000469588,;NOP56,non_coding_transcript_exon_variant,,ENST00000494697,;NOP56,non_coding_transcript_exon_variant,,ENST00000460258,;NOP56,non_coding_transcript_exon_variant,,ENST00000496775,;NOP56,upstream_gene_variant,,ENST00000492135,;NOP56,upstream_gene_variant,,ENST00000466447,;NOP56,upstream_gene_variant,,ENST00000484998,;NOP56,upstream_gene_variant,,ENST00000480992,;NOP56,upstream_gene_variant,,ENST00000462630,;NOP56,upstream_gene_variant,,ENST00000467857,;NOP56,downstream_gene_variant,,ENST00000470143,;NOP56,upstream_gene_variant,,ENST00000480447,;NOP56,upstream_gene_variant,,ENST00000490753,;NOP56,upstream_gene_variant,,ENST00000471023,;NOP56,upstream_gene_variant,,ENST00000612233,;NOP56,upstream_gene_variant,,ENST00000616692,;IDH3B,downstream_gene_variant,,ENST00000488299,;NOP56,upstream_gene_variant,,ENST00000467196,;IDH3B,downstream_gene_variant,,ENST00000492240,;IDH3B,downstream_gene_variant,,ENST00000466494,;IDH3B,downstream_gene_variant,,ENST00000477689,;IDH3B,downstream_gene_variant,,ENST00000466999,;	A	ENST00000329276	Transcript	synonymous_variant	876/2400	360/1785	120/594	E	gaG/gaA		1		1	NOP56	HGNC	HGNC:15911	protein_coding	YES	CCDS13030.1	ENSP00000370589	O00567		UPI000016A81D	NM_006392.3			4/12		hmmpanther:PTHR10894,hmmpanther:PTHR10894:SF0																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	93	2654565	2654565	G	A	1	0	0	0	0	0	0	0	1	10583	933	33	3		3	NOP56	20	2654565	Silent	SNP	G	C3N-02155_TP		2654565	61789602	150	30660											
NOP56	0	.	GRCh38	chr20	2657087	2657087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttctttgaccaggcagagGaagcggctgctgagattact	9	12	12	8	1	1	3	0	2	1	2	1	5	1	4	1	3	3	3	1	3	2	4	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.1288G>A	p.Glu430Lys	p.E430K	ENST00000329276	11/12	486	432	54	292	292	0	strelka-varscan-mutect	NOP56,missense_variant,p.Glu430Lys,ENST00000329276,NM_006392.3;NOP56,missense_variant,p.Glu171Lys,ENST00000415272,;IDH3B,downstream_gene_variant,,ENST00000380843,NM_006899.3;IDH3B,downstream_gene_variant,,ENST00000613370,NM_001258384.1;IDH3B,downstream_gene_variant,,ENST00000474315,;IDH3B,downstream_gene_variant,,ENST00000380851,NM_174855.2;NOP56,downstream_gene_variant,,ENST00000445139,;SNORA51,downstream_gene_variant,,ENST00000606420,;SNORD86,downstream_gene_variant,,ENST00000391196,;SNORD110,downstream_gene_variant,,ENST00000408189,;SNORD57,downstream_gene_variant,,ENST00000448188,;SNORD56,downstream_gene_variant,,ENST00000413522,;NOP56,downstream_gene_variant,,ENST00000408135,;NOP56,non_coding_transcript_exon_variant,,ENST00000492135,;NOP56,non_coding_transcript_exon_variant,,ENST00000466447,;NOP56,non_coding_transcript_exon_variant,,ENST00000462630,;NOP56,non_coding_transcript_exon_variant,,ENST00000467857,;NOP56,non_coding_transcript_exon_variant,,ENST00000480447,;NOP56,non_coding_transcript_exon_variant,,ENST00000490753,;NOP56,non_coding_transcript_exon_variant,,ENST00000471023,;NOP56,downstream_gene_variant,,ENST00000484998,;NOP56,downstream_gene_variant,,ENST00000469588,;NOP56,downstream_gene_variant,,ENST00000480992,;NOP56,downstream_gene_variant,,ENST00000494697,;NOP56,downstream_gene_variant,,ENST00000460258,;NOP56,downstream_gene_variant,,ENST00000496775,;NOP56,downstream_gene_variant,,ENST00000470143,;NOP56,missense_variant,p.Glu204Lys,ENST00000467196,;NOP56,non_coding_transcript_exon_variant,,ENST00000612233,;NOP56,non_coding_transcript_exon_variant,,ENST00000616692,;IDH3B,downstream_gene_variant,,ENST00000488299,;IDH3B,downstream_gene_variant,,ENST00000492240,;IDH3B,downstream_gene_variant,,ENST00000462967,;IDH3B,downstream_gene_variant,,ENST00000491065,;IDH3B,downstream_gene_variant,,ENST00000466494,;IDH3B,downstream_gene_variant,,ENST00000477689,;IDH3B,downstream_gene_variant,,ENST00000466999,;IDH3B,downstream_gene_variant,,ENST00000479376,;	A	ENST00000329276	Transcript	missense_variant	1804/2400	1288/1785	430/594	E/K	Gaa/Aaa		1		1	NOP56	HGNC	HGNC:15911	protein_coding	YES	CCDS13030.1	ENSP00000370589	O00567		UPI000016A81D	NM_006392.3	tolerated(0.19)		11/12		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10894,hmmpanther:PTHR10894:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	93	2657087	2657087	G	A	1	0	0	0	0	1	0	0	0	10583	1175	41	3		3	NOP56	20	2657087	Missense_Mutation	SNP	G	C3N-02155_TP	2522	2657087	61787080	151	30661											
SNAP25	0	.	GRCh38	chr20	10277721	10277721	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgtatgctgcaactggttGaagaggtaagaagtgacagt	12	10	14	5	1	0	4	0	2	0	2	1	4	0	4	0	2	3	5	0	2	5	3	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.109G>C	p.Glu37Gln	p.E37Q	ENST00000254976	3/8	424	379	45	301	301	0	strelka-varscan-mutect	SNAP25,missense_variant,p.Glu37Gln,ENST00000254976,NM_130811.2;SNAP25,missense_variant,p.Glu37Gln,ENST00000304886,NM_003081.3;SNAP25,missense_variant,p.Glu37Gln,ENST00000430336,;SNAP25-AS1,intron_variant,,ENST00000421143,;SNAP25-AS1,intron_variant,,ENST00000453544,;SNAP25,non_coding_transcript_exon_variant,,ENST00000492814,;	C	ENST00000254976	Transcript	missense_variant	320/2053	109/621	37/206	E/Q	Gaa/Caa		1		1	SNAP25	HGNC	HGNC:11132	protein_coding	YES	CCDS13110.1	ENSP00000254976	P60880		UPI0000001103	NM_130811.2	tolerated(0.07)		3/8		PROSITE_profiles:PS50192,hmmpanther:PTHR19305,hmmpanther:PTHR19305:SF5,Gene3D:1.20.5.110,SMART_domains:SM00397,Superfamily_domains:SSF58038																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	93	10277721	10277721	G	C	1	0	0	0	0	1	0	0	0	15151	1304	45	4		4	SNAP25	20	10277721	Missense_Mutation	SNP	G	C3N-02155_TP	7620634	10277721	54166446	152	30662											
SLX4IP	0	.	GRCh38	chr20	10623043	10623043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaacccaacagaaacgcagGaactgcagctctgcggaaga	17	3	10	11	2	1	2	0	0	1	2	1	4	1	4	1	2	7	3	1	2	6	0	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.891G>A	p.=	p.R297R	ENST00000334534	8/8	276	232	44	184	184	0	strelka-varscan-mutect	SLX4IP,synonymous_variant,p.=,ENST00000334534,NM_001009608.1;SLX4IP,intron_variant,,ENST00000488816,;	A	ENST00000334534	Transcript	synonymous_variant	1071/6062	891/1227	297/408	R	agG/agA		1		1	SLX4IP	HGNC	HGNC:16225	protein_coding	YES	CCDS33439.1	ENSP00000335557	Q5VYV7		UPI00001D8318	NM_001009608.1			8/8		hmmpanther:PTHR28557,Pfam_domain:PF15744																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	93	10623043	10623043	G	A	1	0	0	0	0	0	0	0	1	15049	1165	41	3		3	SLX4IP	20	10623043	Silent	SNP	G	C3N-02155_TP	345322	10623043	53821124	153	30663											
FAM217B	0	.	GRCh38	chr20	59944328	59944328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatccagtttactttgatCttcaccctggtcagggccat	7	15	8	11	0	3	2	2	2	1	0	4	2	4	2	3	2	1	1	3	2	1	5	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.385C>G	p.Leu129Val	p.L129V	ENST00000358293	5/5	561	505	56	313	313	0	strelka-varscan-mutect	FAM217B,missense_variant,p.Leu129Val,ENST00000358293,NM_001190826.1;FAM217B,missense_variant,p.Leu129Val,ENST00000360816,NM_001190827.1,NM_022106.2;PPP1R3D,upstream_gene_variant,,ENST00000370996,NM_006242.3;FAM217B,downstream_gene_variant,,ENST00000421092,;FAM217B,intron_variant,,ENST00000469084,;	G	ENST00000358293	Transcript	missense_variant	800/5152	385/1152	129/383	L/V	Ctt/Gtt		1		1	FAM217B	HGNC	HGNC:16170	protein_coding	YES	CCDS13484.1	ENSP00000351040	Q9NTX9		UPI0000128624	NM_001190826.1	tolerated(0.53)		5/5		Pfam_domain:PF15344,hmmpanther:PTHR22145,hmmpanther:PTHR22145:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	93	59944328	59944328	C	G	1	0	0	0	0	1	0	0	0	5407	913	32	4		4	FAM217B	20	59944328	Missense_Mutation	SNP	C	C3N-02155_TP	49321285	59944328	4499839	154	30664											
LAMA5	0	.	GRCh38	chr20	62320576	62320576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggccgcctagccgccGtgcgtcctgcccgaggcttg	2	8	14	17	5	0	0	0	0	0	0	1	1	1	0	7	2	4	1	7	2	1	2	rs769500367		C3N-02155_TP	C3N-02155_NB	G	G																c.6742C>T	p.Arg2248Trp	p.R2248W	ENST00000252999	50/80	381	336	45	169	169	0	strelka-varscan-mutect	LAMA5,missense_variant,p.Arg2248Trp,ENST00000252999,NM_005560.4;LAMA5,downstream_gene_variant,,ENST00000497363,;LAMA5,downstream_gene_variant,,ENST00000464134,;LAMA5,upstream_gene_variant,,ENST00000471042,;LAMA5,upstream_gene_variant,,ENST00000481120,;	A	ENST00000252999	Transcript	missense_variant	6809/11426	6742/11088	2248/3695	R/W	Cgg/Tgg	rs769500367,COSM4100100	1		-1	LAMA5	HGNC	HGNC:6485	protein_coding	YES	CCDS33502.1	ENSP00000252999	O15230		UPI0000161FDC	NM_005560.4	deleterious(0)		50/80		Pfam_domain:PF06008											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs769500367	.												A	3	1	93	62320576	62320576	G	A	1	0	0	0	0	1	0	0	0	8513	1144	40	1		1	LAMA5	20	62320576	Missense_Mutation	SNP	G	C3N-02155_TP	2376248	62320576	2123591	155	30665											
TIAM1	0	.	GRCh38	chr21	31152751	31152751	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttccgttaaatttccaaaaAgcacgtcaagctagaaataa	17	11	5	8	2	1	1	1	0	0	1	3	1	3	1	2	0	2	3	2	0	8	5	rs777903504		C3N-02155_TP	C3N-02155_NB	A	A																c.3251T>G	p.Leu1084Arg	p.L1084R	ENST00000286827	20/29	239	204	35	145	145	0	strelka-varscan-mutect	TIAM1,missense_variant,p.Leu1084Arg,ENST00000286827,NM_003253.2;TIAM1,missense_variant,p.Leu1024Arg,ENST00000541036,;TIAM1,missense_variant,p.Leu117Arg,ENST00000636887,;	C	ENST00000286827	Transcript	missense_variant	3723/7200	3251/4776	1084/1591	L/R	cTt/cGt	rs777903504	1		-1	TIAM1	HGNC	HGNC:11805	protein_coding	YES	CCDS13609.1	ENSP00000286827	Q13009		UPI000013DE6F	NM_003253.2	deleterious(0)		20/29		PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF88,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065																	MODERATE	1	SNV	1			1										PASS		rs777903504	.												C	3	2	93	31152751	31152751	A	C	1	0	0	0	0	1	0	0	0	16324	72	3	5		5	TIAM1	21	31152751	Missense_Mutation	SNP	A	C3N-02155_TP		31152751	15557232	156	30666											
PCNT	0	.	GRCh38	chr21	46431955	46431955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaggctcagaagcactgtGaggcgctcaggagagagaag	12	5	16	8	1	2	5	2	2	0	3	2	7	2	5	0	3	1	3	0	3	2	0	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.8491G>A	p.Glu2831Lys	p.E2831K	ENST00000359568	38/47	771	672	99	397	397	0	strelka-varscan-mutect	PCNT,missense_variant,p.Glu2831Lys,ENST00000359568,NM_006031.5;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,non_coding_transcript_exon_variant,,ENST00000482575,;	A	ENST00000359568	Transcript	missense_variant	8598/10560	8491/10011	2831/3336	E/K	Gag/Aag		1		1	PCNT	HGNC	HGNC:16068	protein_coding	YES	CCDS33592.1	ENSP00000352572	O95613		UPI00001AEB88	NM_006031.5	tolerated(0.18)		38/47		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	93	46431955	46431955	G	A	1	0	0	0	0	1	0	0	0	11678	1291	45	3		3	PCNT	21	46431955	Missense_Mutation	SNP	G	C3N-02155_TP	15279204	46431955	278028	157	30667											
ANKRD54	0	.	GRCh38	chr22	37844181	37844181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgccaccgcgcactcgccctCcgagctcgagtggcctgagc	5	5	12	19	6	0	1	0	1	0	0	3	3	1	1	5	1	2	2	5	1	0	0	novel		C3N-02155_TP	C3N-02155_NB	C	C																c.58G>A	p.Glu20Lys	p.E20K	ENST00000215941	1/8	330	267	63	202	202	0	strelka-varscan-mutect	ANKRD54,missense_variant,p.Glu20Lys,ENST00000215941,NM_138797.2;ANKRD54,missense_variant,p.Glu20Lys,ENST00000411961,;ANKRD54,missense_variant,p.Glu20Lys,ENST00000434930,;ANKRD54,intron_variant,,ENST00000609454,;EIF3L,upstream_gene_variant,,ENST00000412331,;ANKRD54,upstream_gene_variant,,ENST00000406423,;ANKRD54,upstream_gene_variant,,ENST00000458278,;ANKRD54,upstream_gene_variant,,ENST00000424350,;ANKRD54,downstream_gene_variant,,ENST00000385210,;MIR659,downstream_gene_variant,,ENST00000384963,;ANKRD54,downstream_gene_variant,,ENST00000609706,;ANKRD54,upstream_gene_variant,,ENST00000464849,;ANKRD54,missense_variant,p.Glu33Lys,ENST00000413497,;ANKRD54,upstream_gene_variant,,ENST00000407117,;	T	ENST00000215941	Transcript	missense_variant	251/2184	58/903	20/300	E/K	Gag/Aag		1		-1	ANKRD54	HGNC	HGNC:25185	protein_coding	YES	CCDS13959.1	ENSP00000215941	Q6NXT1		UPI0000073164	NM_138797.2	deleterious_low_confidence(0.02)		1/8		hmmpanther:PTHR24197																	MODERATE	1	SNV	1			1										PASS		rs1451394448	.												T	3	4	93	37844181	37844181	C	T	1	0	0	0	0	1	0	0	0	784	864	30	3		3	ANKRD54	22	37844181	Missense_Mutation	SNP	C	C3N-02155_TP		37844181	12974287	158	30668											
PTCHD1	0	.	GRCh38	chrX	23335225	23335225	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacaccgacctgatcttaaAggtgagaggggacgggtgcg	10	7	15	9	3	2	2	1	2	1	1	2	5	2	3	2	4	1	0	2	4	2	1	novel		C3N-02155_TP	C3N-02155_NB	A	A																c.350A>C	p.Lys117Thr	p.K117T	ENST00000379361	1/3	172	62	110	113	113	0	strelka-varscan-mutect	PTCHD1,missense_variant,p.Lys117Thr,ENST00000379361,NM_173495.2;PTCHD1,missense_variant,p.Lys12Thr,ENST00000616022,;PTCHD1,missense_variant,p.Lys53Thr,ENST00000456522,;	C	ENST00000379361	Transcript	missense_variant,splice_region_variant	1210/13714	350/2667	117/888	K/T	aAg/aCg		1		1	PTCHD1	HGNC	HGNC:26392	protein_coding	YES	CCDS35215.2	ENSP00000368666	Q96NR3	X5DNX9	UPI000059DAD8	NM_173495.2	tolerated(0.37)		1/3		Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF36																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	93	23335225	23335225	A	C	1	0	0	0	0	1	0	0	0	12885	86	3	5		5	PTCHD1	23	23335225	Missense_Mutation	SNP	A	C3N-02155_TP		23335225	132705670	159	30669											
PDK3	0	.	GRCh38	chrX	24494820	24494820	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggctggctaacacaatgaGagaagttaatcttctgccgg	11	9	12	9	2	2	2	0	1	2	1	2	3	2	2	1	3	2	3	1	3	4	3	novel		C3N-02155_TP	C3N-02155_NB	G	G																c.185G>C	p.Arg62Thr	p.R62T	ENST00000441463	2/12	238	180	58	126	126	0	strelka-varscan-mutect	PDK3,missense_variant,p.Arg62Thr,ENST00000441463,NM_001142386.2;PDK3,missense_variant,p.Arg62Thr,ENST00000379162,NM_005391.4;PDK3,non_coding_transcript_exon_variant,,ENST00000493226,;	C	ENST00000441463	Transcript	missense_variant	185/1921	185/1248	62/415	R/T	aGa/aCa		1		1	PDK3	HGNC	HGNC:8811	protein_coding	YES	CCDS48088.1	ENSP00000387536	Q15120		UPI00002124D4	NM_001142386.2	deleterious(0)		2/12		hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF21,Gene3D:1.20.140.20,Pfam_domain:PF10436,Superfamily_domains:SSF69012																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	93	24494820	24494820	G	C	1	0	0	0	0	1	0	0	0	11765	942	33	4		4	PDK3	23	24494820	Missense_Mutation	SNP	G	C3N-02155_TP	1159595	24494820	131546075	160	30670											
KAZN	0	.	GRCh38	chr1	15104095	15104095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagcccacattcaatgccGaggccatggccactgccctg	8	7	11	15	1	1	0	1	0	0	0	1	2	1	1	5	3	3	0	5	3	1	1	novel		C3N-02158_TP	C3N-02158_NB	G	G																c.1954G>A	p.Glu652Lys	p.E652K	ENST00000376030	13/15	283	222	61	143	143	0	strelka-varscan-mutect	KAZN,missense_variant,p.Glu740Lys,ENST00000636203,;KAZN,missense_variant,p.Glu652Lys,ENST00000376030,NM_201628.2;	A	ENST00000376030	Transcript	missense_variant	2248/6030	1954/2328	652/775	E/K	Gag/Aag		1		1	KAZN	HGNC	HGNC:29173	protein_coding	YES	CCDS152.2	ENSP00000365198	Q674X7		UPI0000E1E68A	NM_201628.2	deleterious(0)		13/15		Pfam_domain:PF07647,PROSITE_profiles:PS50105,hmmpanther:PTHR12776,hmmpanther:PTHR12776:SF1,SMART_domains:SM00454,Superfamily_domains:SSF47769																	MODERATE	1	SNV	5			1										PASS		rs1271683187	.												A	3	1	94	15104095	15104095	G	A	1	0	0	0	0	1	0	0	0	7907	1059	37	1		1	KAZN	1	15104095	Missense_Mutation	SNP	G	C3N-02158_TP		15104095	233852327	1	30671											
FBXO42	0	.	GRCh38	chr1	16251771	16251771	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctggctgaagaccacCacacactgtcccacctggaa	11	5	10	15	0	0	2	0	1	0	1	1	4	1	4	5	3	1	1	5	3	2	0	novel		C3N-02158_TP	C3N-02158_NB	C	C																c.1053G>T	p.=	p.V351V	ENST00000375592	10/10	103	90	13	81	81	0	strelka-varscan-mutect	FBXO42,synonymous_variant,p.=,ENST00000375592,NM_018994.2;FBXO42,synonymous_variant,p.=,ENST00000456164,;FBXO42,synonymous_variant,p.=,ENST00000444116,;	A	ENST00000375592	Transcript	synonymous_variant	1270/6202	1053/2154	351/717	V	gtG/gtT		1		-1	FBXO42	HGNC	HGNC:29249	protein_coding	YES	CCDS30613.1	ENSP00000364742	Q6P3S6	A0A024QZB0	UPI0000161A51	NM_018994.2			10/10		Superfamily_domains:0052715,Gene3D:1zgkA00,hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF316																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	94	16251771	16251771	C	A	1	0	0	0	0	0	0	0	1	5614	581	21	2		2	FBXO42	1	16251771	Silent	SNP	C	C3N-02158_TP	1147676	16251771	232704651	2	30672											
RPL5	0	.	GRCh38	chr1	92833656	92833656	+	Frame_Shift_Del	DEL	G	G	-																															gacaaacagagatatcatttGtcaggtaagttgtattctag																								novel		C3N-02158_TP	C3N-02158_NB	G	G																c.185delG	p.Cys62PhefsTer8	p.C62Ffs*8	ENST00000370321	3/8	353	287	66	281	281	0	sindel-varindel	RPL5,frameshift_variant,p.Cys62PhefsTer8,ENST00000370321,NM_000969.3;RPL5,frameshift_variant,p.Cys12PhefsTer8,ENST00000315741,;FAM69A,intron_variant,,ENST00000615519,NM_001252273.1;SNORD21,upstream_gene_variant,,ENST00000383953,;RPL5,frameshift_variant,p.Cys62PhefsTer45,ENST00000470843,;RPL5,non_coding_transcript_exon_variant,,ENST00000461952,;RPL5,upstream_gene_variant,,ENST00000497519,;	-	ENST00000370321	Transcript	frameshift_variant	275/1043	185/894	62/297	C/X	tGt/tt		1		1	RPL5	HGNC	HGNC:10360	protein_coding	YES	CCDS741.1	ENSP00000359345	P46777	A2RUM7	UPI00000702C9	NM_000969.3			3/8		Gene3D:3.30.420.100,HAMAP:MF_01337_A,Pfam_domain:PF17144,Prints_domain:PR00058,hmmpanther:PTHR23410,Superfamily_domains:SSF53137																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	94	92833656	92833656	G	-	1	0	1	0	1	0	0	0	0	13850	1391	48	0		0	RPL5	1	92833656	Frame_Shift_Del	DEL	G	C3N-02158_TP	76581885	92833656	156122766	3	30673	631	2									
RPL5	0	.	GRCh38	chr1	92833658	92833658	+	Nonsense_Mutation	SNP	C	C	T																															caaacagagatatcatttgtCaggtaagttgtattctagac																								novel		C3N-02158_TP	C3N-02158_NB	C	C																c.187C>T	p.Gln63Ter	p.Q63*	ENST00000370321	3/8	387	317	70	288	288	0	strelka-mutect	RPL5,stop_gained,p.Gln63Ter,ENST00000370321,NM_000969.3;RPL5,stop_gained,p.Gln13Ter,ENST00000315741,;FAM69A,intron_variant,,ENST00000615519,NM_001252273.1;SNORD21,upstream_gene_variant,,ENST00000383953,;RPL5,stop_gained,p.Gln63Ter,ENST00000470843,;RPL5,splice_region_variant,,ENST00000461952,;RPL5,upstream_gene_variant,,ENST00000497519,;	T	ENST00000370321	Transcript	stop_gained,splice_region_variant	277/1043	187/894	63/297	Q/*	Cag/Tag		1		1	RPL5	HGNC	HGNC:10360	protein_coding	YES	CCDS741.1	ENSP00000359345	P46777	A2RUM7	UPI00000702C9	NM_000969.3			3/8		Gene3D:3.30.420.100,HAMAP:MF_01337_A,Pfam_domain:PF17144,hmmpanther:PTHR23410,Superfamily_domains:SSF53137																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	94	92833658	92833658	C	T	1	0	0	0	0	0	1	0	0	13850	840	29	3		3	RPL5	1	92833658	Nonsense_Mutation	SNP	C	C3N-02158_TP	2	92833658	156122764	4	30674	631	2									
KCNC4	0	.	GRCh38	chr1	110223208	110223208	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgccccgacacgctggActtcgtcaagaacctgctca	8	8	10	15	3	2	1	2	0	0	1	3	3	2	2	3	1	4	3	3	1	2	1	rs557039649		C3N-02158_TP	C3N-02158_NB	A	A																c.923A>T	p.Asp308Val	p.D308V	ENST00000369787	2/4	228	197	31	136	136	0	strelka-varscan-mutect	KCNC4,missense_variant,p.Asp308Val,ENST00000369787,NM_004978.4;KCNC4,missense_variant,p.Asp308Val,ENST00000413138,;KCNC4,missense_variant,p.Asp308Val,ENST00000438661,NM_001039574.2;KCNC4,upstream_gene_variant,,ENST00000636402,;KCNC4,intron_variant,,ENST00000412512,;KCNC4,missense_variant,p.Asp308Val,ENST00000469655,;KCNC4,non_coding_transcript_exon_variant,,ENST00000459877,;KCNC4,non_coding_transcript_exon_variant,,ENST00000489935,;	T	ENST00000369787	Transcript	missense_variant	950/18750	923/1908	308/635	D/V	gAc/gTc	rs557039649	1		1	KCNC4	HGNC	HGNC:6236	protein_coding	YES	CCDS821.1	ENSP00000358802	Q03721		UPI000013CAC8	NM_004978.4	tolerated(0.28)		2/4		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF48,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		rs557039649	.												T	3	4	94	110223208	110223208	A	T	1	0	0	0	0	1	0	0	0	7933	275	10	4		4	KCNC4	1	110223208	Missense_Mutation	SNP	A	C3N-02158_TP	17389550	110223208	138733214	5	30675											
PDZK1	0	.	GRCh38	chr1	145682636	145682636	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcatgtacaccccctttttaCctggaagagagtaggggtaa	11	11	10	9	0	1	1	1	0	0	1	1	3	1	2	3	3	2	3	3	3	5	6	novel		C3N-02158_TP	C3N-02158_NB	C	C																c.461G>C	p.Gly154Ala	p.G154A	ENST00000417171	4/9	318	299	19	256	256	0	varscan-mutect	PDZK1,missense_variant,p.Gly154Ala,ENST00000417171,NM_002614.4,NM_001201325.1;PDZK1,missense_variant,p.Gly154Ala,ENST00000344770,;PDZK1,missense_variant,p.Gly154Ala,ENST00000443667,;PDZK1,intron_variant,,ENST00000451928,NM_001201326.1;	G	ENST00000417171	Transcript	missense_variant,splice_region_variant	547/2230	461/1560	154/519	G/A	gGt/gCt		1		-1	PDZK1	HGNC	HGNC:8821	protein_coding	YES	CCDS72860.1	ENSP00000394485	Q5T2W1		UPI000006D202	NM_002614.4,NM_001201325.1	deleterious(0)		4/9		PROSITE_profiles:PS50106,hmmpanther:PTHR14191:SF6,hmmpanther:PTHR14191,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		rs1372253916	.												G	3	3	94	145682636	145682636	C	G	1	0	0	0	0	1	0	0	0	11795	521	18	4		4	PDZK1	1	145682636	Missense_Mutation	SNP	C	C3N-02158_TP	35459428	145682636	103273786	6	30676											
TRIM58	0	.	GRCh38	chr1	247857496	247857496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtggagagcgtgcggCggctggggttgggcgcgggg	2	6	25	8	5	0	1	0	0	0	1	0	2	0	1	1	9	2	2	1	9	0	1	novel		C3N-02158_TP	C3N-02158_NB	C	C																c.250C>T	p.Arg84Trp	p.R84W	ENST00000366481	1/6	36	29	7	24	24	0	strelka-varscan-mutect	TRIM58,missense_variant,p.Arg84Trp,ENST00000366481,NM_015431.3;	T	ENST00000366481	Transcript	missense_variant	298/3225	250/1461	84/486	R/W	Cgg/Tgg		1		1	TRIM58	HGNC	HGNC:24150	protein_coding	YES	CCDS1636.1	ENSP00000355437	Q8NG06		UPI000020590E	NM_015431.3	deleterious(0)		1/6		Low_complexity_(Seg):seg,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF393,Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	94	247857496	247857496	C	T	1	0	0	0	0	1	0	0	0	17024	759	27	1		1	TRIM58	1	247857496	Missense_Mutation	SNP	C	C3N-02158_TP	102174860	247857496	1098926	7	30677											
GAREM2	0	.	GRCh38	chr2	26184822	26184822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggacacgccgcgcttcgCgctgccgcagggcctgctgg	4	5	15	17	7	0	0	0	0	0	0	1	1	0	1	3	3	2	4	3	3	0	1	novel		C3N-02158_TP	C3N-02158_NB	C	C																c.974C>T	p.Ala325Val	p.A325V	ENST00000401533	4/6	147	134	13	78	78	0	strelka-varscan	GAREM2,missense_variant,p.Ala248Val,ENST00000407684,NM_001191033.1;GAREM2,missense_variant,p.Ala325Val,ENST00000401533,NM_001168241.1;GAREM2,upstream_gene_variant,,ENST00000496070,;	T	ENST00000401533	Transcript	missense_variant	1104/4161	974/2625	325/874	A/V	gCg/gTg		1		1	GAREM2	HGNC	HGNC:27172	protein_coding	YES	CCDS54336.1	ENSP00000384593	Q75VX8		UPI0000237273	NM_001168241.1	tolerated(0.52)		4/6		hmmpanther:PTHR14454,hmmpanther:PTHR14454:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	94	26184822	26184822	C	T	1	0	0	0	0	1	0	0	0	6110	768	27	1		1	GAREM2	2	26184822	Missense_Mutation	SNP	C	C3N-02158_TP		26184822	216008707	8	30678											
LRRTM1	0	.	GRCh38	chr2	80302577	80302577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcggcgtgctcgccgcCtggaagagccacggtggcag	5	7	16	13	5	1	1	0	0	1	1	3	2	1	2	3	4	2	3	3	4	1	1	novel		C3N-02158_TP	C3N-02158_NB	C	C																c.1243G>C	p.Gly415Arg	p.G415R	ENST00000295057	2/2	157	134	23	125	125	0	strelka-varscan	LRRTM1,missense_variant,p.Gly415Arg,ENST00000295057,;LRRTM1,missense_variant,p.Gly415Arg,ENST00000409148,NM_178839.4;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.2;CTNNA2,intron_variant,,ENST00000629316,NM_001164883.1;CTNNA2,upstream_gene_variant,,ENST00000541047,NM_001282600.1;LRRTM1,downstream_gene_variant,,ENST00000416268,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000415098,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.Gly415Arg,ENST00000433224,;LRRTM1,missense_variant,p.Gly415Arg,ENST00000417012,;	G	ENST00000295057	Transcript	missense_variant	1900/2599	1243/1569	415/522	G/R	Ggc/Cgc		1		-1	LRRTM1	HGNC	HGNC:19408	protein_coding	YES	CCDS1966.1	ENSP00000295057	Q86UE6		UPI000013E1FE		tolerated(0.5)		2/2		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	94	80302577	80302577	C	G	1	0	0	0	0	1	0	0	0	8945	681	24	4		4	LRRTM1	2	80302577	Missense_Mutation	SNP	C	C3N-02158_TP	54117755	80302577	161890952	9	30679											
TMEM131	0	.	GRCh38	chr2	97758932	97758932	+	Frame_Shift_Del	DEL	G	G	-																															gagccggaactggctggccaGgaaggactgggatctgtcgc																								novel		C3N-02158_TP	C3N-02158_NB	G	G																c.5328delC	p.Trp1777GlyfsTer133	p.W1777Gfs*133	ENST00000186436	40/41	199	168	31	180	180	0	sindel-varindel-pindel	TMEM131,frameshift_variant,p.Trp1777GlyfsTer133,ENST00000186436,NM_015348.1;TMEM131,non_coding_transcript_exon_variant,,ENST00000485245,;TMEM131,non_coding_transcript_exon_variant,,ENST00000469447,;TMEM131,downstream_gene_variant,,ENST00000465767,;	-	ENST00000186436	Transcript	frameshift_variant	5557/6640	5328/5652	1776/1883	S/X	tcC/tc		1		-1	TMEM131	HGNC	HGNC:30366	protein_coding	YES	CCDS46368.1	ENSP00000186436	Q92545		UPI00006C0498	NM_015348.1			40/41		Low_complexity_(Seg):seg,hmmpanther:PTHR22050:SF1,hmmpanther:PTHR22050																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	94	97758932	97758932	G	-	1	0	1	0	1	0	0	0	0	16488	987	35	0		0	TMEM131	2	97758932	Frame_Shift_Del	DEL	G	C3N-02158_TP	17456355	97758932	144434597	10	30680											
CUL3	0	.	GRCh38	chr2	224506964	224506964	+	Frame_Shift_Del	DEL	T	T	-																															cacacattgttttcaaaccaTttggcacacgactaaataac																										C3N-02158_TP	C3N-02158_NB	T	T																c.923delA	p.Asn308MetfsTer3	p.N308Mfs*3	ENST00000264414	7/16	154	120	34	124	124	0	sindel-varindel-pindel	CUL3,frameshift_variant,p.Asn308MetfsTer3,ENST00000264414,NM_003590.4;CUL3,frameshift_variant,p.Asn242MetfsTer3,ENST00000344951,NM_001257197.1;CUL3,frameshift_variant,p.Asn284MetfsTer3,ENST00000409777,;CUL3,frameshift_variant,p.Asn284MetfsTer3,ENST00000409096,NM_001257198.1;CUL3,upstream_gene_variant,,ENST00000617432,;CUL3,downstream_gene_variant,,ENST00000541548,;CUL3,non_coding_transcript_exon_variant,,ENST00000484081,;CUL3,upstream_gene_variant,,ENST00000481135,;	-	ENST00000264414	Transcript	frameshift_variant	1262/6741	923/2307	308/768	N/X	aAt/at	COSM5640912	1		-1	CUL3	HGNC	HGNC:2553	protein_coding	YES	CCDS2462.1	ENSP00000264414	Q13618	A0A024R475	UPI0000001C83	NM_003590.4			7/16		hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF85,Pfam_domain:PF00888,Gene3D:1.20.1310.10,Superfamily_domains:SSF74788											1						HIGH	1	deletion	1		1	1										PASS		.	.												-	7	5	94	224506964	224506964	T	-	1	0	1	0	1	0	0	0	0	3866	1493	52	0		0	CUL3	2	224506964	Frame_Shift_Del	DEL	T	C3N-02158_TP	126748032	224506964	17686565	11	30681											
EIF2A	0	.	GRCh38	chr3	150572327	150572327	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaatttggcattatactgGctctatcttgcacaagtatg	12	14	7	8	0	2	0	0	0	2	0	2	0	2	0	0	2	2	4	0	2	7	6			C3N-02158_TP	C3N-02158_NB	G	G																c.1181G>T	p.Gly394Val	p.G394V	ENST00000460851	10/14	170	141	29	165	165	0	strelka-varscan-mutect	EIF2A,missense_variant,p.Gly394Val,ENST00000460851,NM_032025.3;EIF2A,missense_variant,p.Gly389Val,ENST00000273435,;EIF2A,missense_variant,p.Gly369Val,ENST00000487799,;EIF2A,missense_variant,p.Gly333Val,ENST00000406576,;EIF2A,missense_variant,p.Gly168Val,ENST00000465535,;SERP1,intron_variant,,ENST00000479209,;EIF2A,downstream_gene_variant,,ENST00000482093,;SERP1,intron_variant,,ENST00000490945,;SERP1,intron_variant,,ENST00000463647,;SERP1,intron_variant,,ENST00000491195,;SERP1,intron_variant,,ENST00000484608,;EIF2A,upstream_gene_variant,,ENST00000482471,;EIF2A,3_prime_UTR_variant,,ENST00000477551,;EIF2A,downstream_gene_variant,,ENST00000462221,;EIF2A,downstream_gene_variant,,ENST00000494558,;EIF2A,downstream_gene_variant,,ENST00000472926,;	T	ENST00000460851	Transcript	missense_variant	1290/2198	1181/1758	394/585	G/V	gGc/gTc	COSM1039860,COSM1039861	1		1	EIF2A	HGNC	HGNC:3254	protein_coding	YES	CCDS46935.1	ENSP00000417229	Q9BY44		UPI00000473DB	NM_032025.3	deleterious(0)		10/14		hmmpanther:PTHR13227,Pfam_domain:PF08662,PIRSF_domain:PIRSF017222											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	94	150572327	150572327	G	T	1	0	0	0	0	1	0	0	0	4831	1203	42	2		2	EIF2A	3	150572327	Missense_Mutation	SNP	G	C3N-02158_TP		150572327	47723232	12	30682											
KDR	0	.	GRCh38	chr4	55110496	55110496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgtctctttcactcaCttccataatcgtcagtacat	8	16	4	13	1	4	0	3	0	1	0	8	0	6	0	2	0	1	1	2	0	2	4	novel		C3N-02158_TP	C3N-02158_NB	C	C																c.1162G>C	p.Val388Leu	p.V388L	ENST00000263923	9/30	370	331	39	301	300	1	strelka-varscan-mutect	KDR,missense_variant,p.Val388Leu,ENST00000263923,NM_002253.2;KDR,non_coding_transcript_exon_variant,,ENST00000512566,;	G	ENST00000263923	Transcript	missense_variant	1458/5831	1162/4071	388/1356	V/L	Gtg/Ctg		1		-1	KDR	HGNC	HGNC:6307	protein_coding	YES	CCDS3497.1	ENSP00000263923	P35968	A0A024RD88	UPI000003AE04	NM_002253.2	deleterious(0.03)		9/30		Gene3D:2.60.40.10,Pfam_domain:PF07679,Prints_domain:PR01832,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	94	55110496	55110496	C	G	1	0	0	0	0	1	0	0	0	8059	565	20	4		4	KDR	4	55110496	Missense_Mutation	SNP	C	C3N-02158_TP		55110496	135104059	13	30683											
ANKRD33B	0	.	GRCh38	chr5	10649380	10649380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgctggagcgcccctGcccggagcagttctgggaga	6	6	17	12	2	1	1	0	0	1	1	1	5	1	3	3	4	4	4	3	4	0	1			C3N-02158_TP	C3N-02158_NB	G	G																c.752G>T	p.Cys251Phe	p.C251F	ENST00000296657	4/4	281	204	77	199	199	0	strelka-varscan-mutect	ANKRD33B,missense_variant,p.Cys251Phe,ENST00000296657,NM_001164440.1;ANKRD33B,3_prime_UTR_variant,,ENST00000504806,;RP11-54F2.1,downstream_gene_variant,,ENST00000508690,;	T	ENST00000296657	Transcript	missense_variant	752/9188	752/1485	251/494	C/F	tGc/tTc	COSM4644625	1		1	ANKRD33B	HGNC	HGNC:35240	protein_coding	YES	CCDS47191.1	ENSP00000296657	A6NCL7		UPI00001D7EE7	NM_001164440.1	deleterious(0.01)		4/4		hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF1,SMART_domains:SM00248											1						MODERATE	1	SNV	5		1	1										PASS		rs1334539561	.												T	3	4	94	10649380	10649380	G	T	1	0	0	0	0	1	0	0	0	766	1319	46	2		2	ANKRD33B	5	10649380	Missense_Mutation	SNP	G	C3N-02158_TP		10649380	170888879	14	30684											
DNAH5	0	.	GRCh38	chr5	13718971	13718971	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagtgtaatgggaaacTgcttatgagcctcggtggtc	10	10	15	6	1	0	1	0	1	0	0	2	4	0	3	1	4	3	2	1	4	4	2	novel		C3N-02158_TP	C3N-02158_NB	T	T																c.12410A>G	p.Gln4137Arg	p.Q4137R	ENST00000265104	72/79	566	497	69	394	394	0	strelka-varscan-mutect	DNAH5,missense_variant,p.Gln4137Arg,ENST00000265104,NM_001369.2;	C	ENST00000265104	Transcript	missense_variant	12515/15633	12410/13875	4137/4624	Q/R	cAg/cGg		1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2	tolerated(0.34)		72/79		hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676,Pfam_domain:PF03028																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	94	13718971	13718971	T	C	1	0	0	0	0	1	0	0	0	4419	1580	55	5		5	DNAH5	5	13718971	Missense_Mutation	SNP	T	C3N-02158_TP	3069591	13718971	167819288	15	30685											
SLC45A2	0	.	GRCh38	chr5	33984255	33984255	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcccacgagcatcatgactCccagggtgaggatgtagggt	9	8	14	10	1	1	2	1	2	0	0	2	4	2	3	2	3	2	2	2	3	1	1	novel		C3N-02158_TP	C3N-02158_NB	C	C																c.329G>T	p.Gly110Val	p.G110V	ENST00000296589	1/7	282	242	40	243	242	1	strelka-varscan-mutect	SLC45A2,missense_variant,p.Gly110Val,ENST00000382102,NM_001012509.3;SLC45A2,missense_variant,p.Gly110Val,ENST00000296589,NM_016180.4;SLC45A2,missense_variant,p.Gly110Val,ENST00000509381,NM_001297417.2;AMACR,downstream_gene_variant,,ENST00000335606,NM_014324.5;AMACR,downstream_gene_variant,,ENST00000382072,NM_203382.2;AMACR,downstream_gene_variant,,ENST00000502637,;AMACR,downstream_gene_variant,,ENST00000382085,NM_001167595.1;SLC45A2,upstream_gene_variant,,ENST00000510600,;AMACR,downstream_gene_variant,,ENST00000514195,;SLC45A2,non_coding_transcript_exon_variant,,ENST00000505056,;C1QTNF3-AMACR,downstream_gene_variant,,ENST00000382079,;AMACR,downstream_gene_variant,,ENST00000506639,;	A	ENST00000296589	Transcript	missense_variant	476/1772	329/1593	110/530	G/V	gGa/gTa		1		-1	SLC45A2	HGNC	HGNC:16472	protein_coding	YES	CCDS3901.1	ENSP00000296589	Q9UMX9	A0A076YIB8	UPI00001AEC19	NM_016180.4	tolerated(0.13)		1/7		Transmembrane_helices:TMhelix,hmmpanther:PTHR19432,hmmpanther:PTHR19432:SF34,Gene3D:1.20.1250.20,Pfam_domain:PF13347,Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	94	33984255	33984255	C	A	1	0	0	0	0	1	0	0	0	14918	855	30	2		2	SLC45A2	5	33984255	Missense_Mutation	SNP	C	C3N-02158_TP	20265284	33984255	147554004	16	30686											
PXT1	0	.	GRCh38	chr6	36400532	36400532	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtgaattatttcctcctgGtgatgcttctgaacaatgct	8	17	8	8	0	1	3	0	3	1	0	3	3	3	3	2	1	3	2	2	1	4	4	rs373126614		C3N-02158_TP	C3N-02158_NB	G	G																c.222C>G	p.His74Gln	p.H74Q	ENST00000454782	4/5	212	195	17	224	224	0	strelka-varscan	PXT1,missense_variant,p.His74Gln,ENST00000454782,NM_152990.3;PXT1,upstream_gene_variant,,ENST00000619547,;	C	ENST00000454782	Transcript	missense_variant	706/2108	222/405	74/134	H/Q	caC/caG	rs373126614	1		-1	PXT1	HGNC	HGNC:18312	protein_coding	YES	CCDS4820.2	ENSP00000419944	Q8NFP0		UPI0000EE4DF4	NM_152990.3	tolerated_low_confidence(0.06)		4/5		Gene3D:1.10.437.10,hmmpanther:PTHR40381,hmmpanther:PTHR40381:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	94	36400532	36400532	G	C	1	0	0	0	0	1	0	0	0	13007	1252	44	4		4	PXT1	6	36400532	Missense_Mutation	SNP	G	C3N-02158_TP		36400532	134405447	17	30687											
CYP39A1	0	.	GRCh38	chr6	46652559	46652559	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaacccaggattataatCactgttggggaaattagttc	13	11	10	7	0	1	0	1	0	0	0	2	2	1	2	1	4	1	3	1	4	5	5	novel		C3N-02158_TP	C3N-02158_NB	C	C																c.24G>T	p.=	p.V8V	ENST00000275016	1/12	70	60	10	67	67	0	strelka-varscan	CYP39A1,synonymous_variant,p.=,ENST00000275016,NM_016593.4,NM_001278738.1;CYP39A1,5_prime_UTR_variant,,ENST00000619708,NM_001278739.1;SLC25A27,upstream_gene_variant,,ENST00000371347,NM_004277.4,NM_001204051.1;SLC25A27,upstream_gene_variant,,ENST00000411689,NM_001204052.1;	A	ENST00000275016	Transcript	synonymous_variant	228/2176	24/1410	8/469	V	gtG/gtT		1		-1	CYP39A1	HGNC	HGNC:17449	protein_coding	YES	CCDS4916.1	ENSP00000275016	Q9NYL5		UPI000013DA3D	NM_016593.4,NM_001278738.1			1/12		Transmembrane_helices:TMhelix,hmmpanther:PTHR24304:SF2,hmmpanther:PTHR24304,PIRSF_domain:PIRSF000047																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	94	46652559	46652559	C	A	1	0	0	0	0	0	0	0	1	3980	813	29	2		2	CYP39A1	6	46652559	Silent	SNP	C	C3N-02158_TP	10252027	46652559	124153420	18	30688											
IKZF1	0	.	GRCh38	chr7	50382699	50382699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcactggccacctgaggaCgcactccggtaggtcccctg	6	7	11	17	2	1	1	1	1	0	0	3	2	3	2	6	4	0	2	6	4	1	1			C3N-02158_TP	C3N-02158_NB	C	C																c.581C>T	p.Thr194Met	p.T194M	ENST00000331340	5/8	75	59	16	65	65	0	strelka-varscan-mutect	IKZF1,missense_variant,p.Thr194Met,ENST00000331340,NM_006060.5;IKZF1,missense_variant,p.Thr107Met,ENST00000343574,NM_001291839.1,NM_001220767.2,NM_001291841.1;IKZF1,missense_variant,p.Thr194Met,ENST00000357364,NM_001220768.2;IKZF1,missense_variant,p.Thr194Met,ENST00000439701,NM_001291837.1;IKZF1,missense_variant,p.Thr194Met,ENST00000359197,NM_001220765.2;IKZF1,missense_variant,p.Thr107Met,ENST00000438033,NM_001291838.1;IKZF1,intron_variant,,ENST00000349824,NM_001220771.2;IKZF1,intron_variant,,ENST00000615491,;IKZF1,intron_variant,,ENST00000440768,;IKZF1,intron_variant,,ENST00000346667,;IKZF1,intron_variant,,ENST00000612658,;IKZF1,intron_variant,,ENST00000426121,;IKZF1,non_coding_transcript_exon_variant,,ENST00000471793,;	T	ENST00000331340	Transcript	missense_variant	736/6189	581/1560	194/519	T/M	aCg/aTg	COSM3265417	1		1	IKZF1	HGNC	HGNC:13176	protein_coding	YES	CCDS75596.1	ENSP00000331614	Q13422		UPI000012D465	NM_006060.5	deleterious(0)		5/8		PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF36,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	94	50382699	50382699	C	T	1	0	0	0	0	1	0	0	0	7522	536	19	1		1	IKZF1	7	50382699	Missense_Mutation	SNP	C	C3N-02158_TP		50382699	108963274	19	30689											
EGFR	0	.	GRCh38	chr7	55174772	55174786	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-																															aaaattcccgtcgctatcaaGgaattaagagaagcaacatc																								rs121913421		C3N-02158_TP	C3N-02158_NB	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC																c.2235_2249delGGAATTAAGAGAAGC	p.Glu746_Ala750del	p.E746_A750del	ENST00000275493	19/28	425	276	149	364	364	0	sindel-varindel	EGFR,inframe_deletion,p.Glu746_Ala750del,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000454757,;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	-	ENST00000275493	Transcript	inframe_deletion	2412-2426/9821	2235-2249/3633	745-750/1210	KELREA/K	aaGGAATTAAGAGAAGCa/aaa	rs121913421,COSM6223	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1						MODERATE	1	deletion	1		1,1	1										PASS		.	.												-	7	5	94	55174772	55174772	GGAATTAAGAGAAGC	-	1	0	1	0	1	0	0	0	0	4803	991	35	0		0	EGFR	7	55174772	In_Frame_Del	DEL	GGAATTAAGAGAAGC	C3N-02158_TP	4792073	55174772	104171201	20	30690											
PCLO	0	.	GRCh38	chr7	83155083	83155083	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccaggctgttgaggtgAgggctttgctgggccaggct	5	10	18	8	0	0	3	0	3	0	0	0	3	0	3	2	5	2	5	2	5	0	2	rs111553729		C3N-02158_TP	C3N-02158_NB	A	A																c.1558T>C	p.Ser520Pro	p.S520P	ENST00000333891	2/25	397	376	21	302	297	5	varscan-mutect	PCLO,missense_variant,p.Ser520Pro,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Ser520Pro,ENST00000423517,NM_014510.2;	G	ENST00000333891	Transcript	missense_variant	1896/20329	1558/15429	520/5142	S/P	Tca/Cca	rs111553729	1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5	tolerated(0.96)		2/25		Low_complexity_(Seg):seg,hmmpanther:PTHR14113:SF6,hmmpanther:PTHR14113																	MODERATE	1	SNV	2			1										PASS		rs111553729	.												G	3	3	94	83155083	83155083	A	G	1	0	0	0	0	1	0	0	0	11671	304	11	5		5	PCLO	7	83155083	Missense_Mutation	SNP	A	C3N-02158_TP	27980311	83155083	76190890	21	30691											
CACNB2	0	.	GRCh38	chr10	18401930	18401930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attttcctctccagggttcgGcagactcctacactagccgt	7	12	8	14	2	1	1	0	0	1	1	5	1	3	1	4	2	2	2	4	2	2	5	novel		C3N-02158_TP	C3N-02158_NB	G	G																c.220G>T	p.Ala74Ser	p.A74S	ENST00000324631	3/14	358	297	61	317	317	0	strelka-varscan-mutect	CACNB2,missense_variant,p.Ala19Ser,ENST00000396576,NM_000724.3;CACNB2,missense_variant,p.Ala19Ser,ENST00000617363,;CACNB2,missense_variant,p.Ala20Ser,ENST00000612134,;CACNB2,missense_variant,p.Ala19Ser,ENST00000615785,;CACNB2,missense_variant,p.Ala46Ser,ENST00000282343,NM_201571.3,NM_001167945.1;CACNB2,missense_variant,p.Ala26Ser,ENST00000377315,NM_201570.2;CACNB2,missense_variant,p.Ala74Ser,ENST00000324631,NM_201596.2,NM_201593.2;CACNB2,missense_variant,p.Ala20Ser,ENST00000377329,NM_201590.2;CACNB2,missense_variant,p.Ala19Ser,ENST00000377319,;CACNB2,missense_variant,p.Ala74Ser,ENST00000352115,NM_201597.2;CACNB2,missense_variant,p.Ala46Ser,ENST00000377331,NM_201572.3;CACNB2,missense_variant,p.Ala74Ser,ENST00000377328,;CACNB2,5_prime_UTR_variant,,ENST00000612743,;CACNB2,non_coding_transcript_exon_variant,,ENST00000498816,;	T	ENST00000324631	Transcript	missense_variant	280/3446	220/1983	74/660	A/S	Gca/Tca		1		1	CACNB2	HGNC	HGNC:1402	protein_coding	YES	CCDS7125.1	ENSP00000320025	Q08289		UPI00001AEA80	NM_201596.2,NM_201593.2	deleterious(0.01)		3/14		hmmpanther:PTHR11824:SF9,hmmpanther:PTHR11824,Pfam_domain:PF12052																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	94	18401930	18401930	G	T	1	0	0	0	0	1	0	0	0	2241	1203	42	2		2	CACNB2	10	18401930	Missense_Mutation	SNP	G	C3N-02158_TP		18401930	115395492	22	30692											
FERMT3	0	.	GRCh38	chr11	64220637	64220637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acccctacggcctcgttgccCcccgtttccagcgaaagttc	6	9	8	18	4	0	0	0	0	0	0	3	1	1	0	7	1	3	3	7	1	2	4	novel		C3N-02158_TP	C3N-02158_NB	C	C																c.1525C>T	p.Pro509Ser	p.P509S	ENST00000279227	12/15	344	306	38	224	224	0	strelka-varscan-mutect	FERMT3,missense_variant,p.Pro509Ser,ENST00000279227,NM_178443.2;FERMT3,missense_variant,p.Pro505Ser,ENST00000345728,NM_031471.5;FERMT3,synonymous_variant,p.=,ENST00000545896,;TRPT1,downstream_gene_variant,,ENST00000394546,NM_001160389.1;FERMT3,downstream_gene_variant,,ENST00000544997,;TRPT1,downstream_gene_variant,,ENST00000317459,NM_001033678.3,NM_001160390.1,NM_001160393.1;TRPT1,downstream_gene_variant,,ENST00000541278,NM_001160392.1;TRPT1,downstream_gene_variant,,ENST00000394547,NM_031472.3;TRPT1,downstream_gene_variant,,ENST00000546089,;TRPT1,downstream_gene_variant,,ENST00000545812,;TRPT1,downstream_gene_variant,,ENST00000544286,;TRPT1,downstream_gene_variant,,ENST00000546133,;TRPT1,downstream_gene_variant,,ENST00000540472,;TRPT1,downstream_gene_variant,,ENST00000539595,;TRPT1,downstream_gene_variant,,ENST00000536234,;TRPT1,downstream_gene_variant,,ENST00000539436,;TRPT1,downstream_gene_variant,,ENST00000542040,;FERMT3,downstream_gene_variant,,ENST00000541326,;TRPT1,downstream_gene_variant,,ENST00000537907,;FERMT3,downstream_gene_variant,,ENST00000540957,;FERMT3,downstream_gene_variant,,ENST00000546255,;TRPT1,downstream_gene_variant,,ENST00000536158,;TRPT1,downstream_gene_variant,,ENST00000541928,;FERMT3,upstream_gene_variant,,ENST00000540554,;	T	ENST00000279227	Transcript	missense_variant	1620/2489	1525/2004	509/667	P/S	Ccc/Tcc		1		1	FERMT3	HGNC	HGNC:23151	protein_coding	YES	CCDS8060.1	ENSP00000279227	Q86UX7		UPI000019270B	NM_178443.2	deleterious(0.04)		12/15		hmmpanther:PTHR16160,hmmpanther:PTHR16160:SF1,Pfam_domain:PF00373,Gene3D:1.20.80.10,SMART_domains:SM00295,Superfamily_domains:SSF47031																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	94	64220637	64220637	C	T	1	0	0	0	0	1	0	0	0	5682	623	22	3		3	FERMT3	11	64220637	Missense_Mutation	SNP	C	C3N-02158_TP		64220637	70865985	23	30693											
THAP12	0	.	GRCh38	chr11	76361032	76361032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcaaatattgttggtattGcattatctcgaagaactgtc	12	15	8	6	1	2	1	1	0	1	1	4	3	2	1	0	1	2	3	0	1	6	6	rs139107723		C3N-02158_TP	C3N-02158_NB	G	G																c.242C>T	p.Ala81Val	p.A81V	ENST00000260045	3/5	213	198	15	159	159	0	varscan-mutect	THAP12,missense_variant,p.Ala81Val,ENST00000260045,NM_004705.3;THAP12,non_coding_transcript_exon_variant,,ENST00000531878,;THAP12,3_prime_UTR_variant,,ENST00000528993,;THAP12,non_coding_transcript_exon_variant,,ENST00000525277,;THAP12,upstream_gene_variant,,ENST00000529901,;	A	ENST00000260045	Transcript	missense_variant	348/3300	242/2286	81/761	A/V	gCa/gTa	rs139107723	1		-1	THAP12	HGNC	HGNC:9440	protein_coding	YES	CCDS8243.1	ENSP00000260045	O43422	A0A140VJQ7	UPI0000131030	NM_004705.3	deleterious(0.01)		3/5		Pfam_domain:PF05485,PROSITE_profiles:PS50950,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF104,SMART_domains:SM00692,SMART_domains:SM00980,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		rs139107723	.												A	3	1	94	76361032	76361032	G	A	1	0	0	0	0	1	0	0	0	16276	1319	46	3		3	THAP12	11	76361032	Missense_Mutation	SNP	G	C3N-02158_TP	12140395	76361032	58725590	24	30694											
DPPA3	0	.	GRCh38	chr12	7711647	7711647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagaaaattcccgggacgAttcaggtaagccagataatg	15	7	11	8	3	1	2	1	0	0	2	2	5	2	3	2	2	1	1	2	2	5	4	rs772947924		C3N-02158_TP	C3N-02158_NB	A	A																c.77A>G	p.Asp26Gly	p.D26G	ENST00000345088	1/4	326	244	82	176	175	1	strelka-varscan-mutect	DPPA3,missense_variant,p.Asp26Gly,ENST00000345088,NM_199286.3;	G	ENST00000345088	Transcript	missense_variant	194/1079	77/480	26/159	D/G	gAt/gGt	rs772947924,COSM4211374	1		1	DPPA3	HGNC	HGNC:19199	protein_coding	YES	CCDS8582.1	ENSP00000339250	Q6W0C5		UPI00001981F7	NM_199286.3	tolerated(0.63)		1/4		hmmpanther:PTHR31577,hmmpanther:PTHR31577:SF2,Pfam_domain:PF15549											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs772947924	.												G	3	3	94	7711647	7711647	A	G	1	0	0	0	0	1	0	0	0	4550	347	12	5		5	DPPA3	12	7711647	Missense_Mutation	SNP	A	C3N-02158_TP		7711647	125563662	25	30695											
PMCH	0	.	GRCh38	chr12	102197633	102197633	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtcttccttctgaaagccTttccccaacctgaatgtatt	8	15	6	12	0	2	2	0	2	2	0	4	2	4	2	5	0	2	1	5	0	4	5	novel		C3N-02158_TP	C3N-02158_NB	T	T																c.138A>C	p.Lys46Asn	p.K46N	ENST00000329406	1/3	346	299	47	256	256	0	strelka-varscan-mutect	PMCH,missense_variant,p.Lys46Asn,ENST00000329406,NM_002674.2;PARPBP,downstream_gene_variant,,ENST00000327680,NM_001319994.1,NM_017915.3;PARPBP,downstream_gene_variant,,ENST00000541394,;PARPBP,downstream_gene_variant,,ENST00000417507,;PARPBP,downstream_gene_variant,,ENST00000412715,;PARPBP,downstream_gene_variant,,ENST00000392911,;PARPBP,downstream_gene_variant,,ENST00000543784,;HELLPAR,non_coding_transcript_exon_variant,,ENST00000626826,;PARPBP,downstream_gene_variant,,ENST00000535811,;PARPBP,downstream_gene_variant,,ENST00000457614,;	G	ENST00000329406	Transcript	missense_variant	213/766	138/498	46/165	K/N	aaA/aaC		1		-1	PMCH	HGNC	HGNC:9109	protein_coding	YES	CCDS31885.1	ENSP00000332225	P20382		UPI000006D1DF	NM_002674.2	deleterious(0.01)		1/3		hmmpanther:PTHR12091																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	94	102197633	102197633	T	G	1	0	0	0	0	1	0	0	0	12237	1606	56	5		5	PMCH	12	102197633	Missense_Mutation	SNP	T	C3N-02158_TP	94485986	102197633	31077676	26	30696											
MAP2K5	0	.	GRCh38	chr15	67543417	67543417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagatcccaaatagtggcGcggtggactggacagtgcac	11	7	13	10	2	1	1	1	0	0	1	2	3	2	3	1	4	1	1	1	4	3	1			C3N-02158_TP	C3N-02158_NB	G	G																c.82G>A	p.Ala28Thr	p.A28T	ENST00000178640	1/22	238	207	31	200	200	0	strelka-varscan-mutect	MAP2K5,missense_variant,p.Ala28Thr,ENST00000178640,NM_145160.2;MAP2K5,missense_variant,p.Ala28Thr,ENST00000395476,NM_002757.3;RP11-502I4.3,upstream_gene_variant,,ENST00000604760,;MAP2K5,non_coding_transcript_exon_variant,,ENST00000560591,;MAP2K5,upstream_gene_variant,,ENST00000560086,;	A	ENST00000178640	Transcript	missense_variant	709/2347	82/1347	28/448	A/T	Gcg/Acg	COSM194330	1		1	MAP2K5	HGNC	HGNC:6845	protein_coding	YES	CCDS10224.1	ENSP00000178640	Q13163	A0A024R5Y2	UPI0000072D4A	NM_145160.2	tolerated(0.24)		1/22		Gene3D:3.10.20.240,Pfam_domain:PF00564,PROSITE_profiles:PS51745,SMART_domains:SM00666,Superfamily_domains:SSF54277											1						MODERATE	1	SNV	1		1	1										PASS		rs1376634815	.												A	3	1	94	67543417	67543417	G	A	1	0	0	0	0	1	0	0	0	9162	1087	38	1		1	MAP2K5	15	67543417	Missense_Mutation	SNP	G	C3N-02158_TP		67543417	34447772	27	30697											
KDM6B	0	.	GRCh38	chr17	7848714	7848714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgctcaaatccttggcctCcgtgctggagggacaaaagt	9	9	11	12	1	1	0	1	0	0	0	3	2	3	2	4	3	2	2	4	3	3	1	novel		C3N-02158_TP	C3N-02158_NB	C	C																c.2426C>T	p.Ser809Phe	p.S809F	ENST00000254846	11/22	242	209	33	112	112	0	strelka-varscan-mutect	KDM6B,missense_variant,p.Ser809Phe,ENST00000254846,NM_001080424.1;KDM6B,missense_variant,p.Ser809Phe,ENST00000448097,;KDM6B,downstream_gene_variant,,ENST00000570632,;KDM6B,downstream_gene_variant,,ENST00000571047,;KDM6B,downstream_gene_variant,,ENST00000575521,;	T	ENST00000254846	Transcript	missense_variant	2815/6713	2426/5049	809/1682	S/F	tCc/tTc		1		1	KDM6B	HGNC	HGNC:29012	protein_coding	YES	CCDS32552.1	ENSP00000254846	O15054		UPI00006C175B	NM_001080424.1	deleterious_low_confidence(0)		11/22		Low_complexity_(Seg):seg,hmmpanther:PTHR14017:SF5,hmmpanther:PTHR14017																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	94	7848714	7848714	C	T	1	0	0	0	0	1	0	0	0	8056	855	30	3		3	KDM6B	17	7848714	Missense_Mutation	SNP	C	C3N-02158_TP		7848714	75408727	28	30698											
NKIRAS2	0	.	GRCh38	chr17	42022459	42022459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccattgagacagaccgggGggtgcgagagcaggtgcgtt	8	7	17	9	3	0	3	0	1	0	3	1	5	1	3	2	4	3	2	2	4	0	2	novel		C3N-02158_TP	C3N-02158_NB	G	G																c.155G>T	p.Gly52Val	p.G52V	ENST00000307641	3/4	97	83	14	57	57	0	strelka-varscan-mutect	NKIRAS2,missense_variant,p.Gly52Val,ENST00000307641,NM_001001349.2;NKIRAS2,missense_variant,p.Gly52Val,ENST00000393885,NM_001144927.1,NM_017595.5;NKIRAS2,missense_variant,p.Gly52Val,ENST00000393880,;NKIRAS2,missense_variant,p.Gly52Val,ENST00000393881,;NKIRAS2,missense_variant,p.Gly52Val,ENST00000449471,NM_001144928.1;NKIRAS2,missense_variant,p.Gly52Val,ENST00000479407,NM_001144929.1;NKIRAS2,missense_variant,p.Gly52Val,ENST00000316082,;NKIRAS2,missense_variant,p.Gly18Val,ENST00000587337,;NKIRAS2,intron_variant,,ENST00000462043,;ZNF385C,downstream_gene_variant,,ENST00000618554,NM_001242704.1;DNAJC7,upstream_gene_variant,,ENST00000457167,NM_003315.3;ZNF385C,downstream_gene_variant,,ENST00000436535,;DNAJC7,upstream_gene_variant,,ENST00000590348,;DNAJC7,upstream_gene_variant,,ENST00000589773,;DNAJC7,upstream_gene_variant,,ENST00000591787,;NKIRAS2,downstream_gene_variant,,ENST00000585955,;ZNF385C,downstream_gene_variant,,ENST00000461831,;NKIRAS2,missense_variant,p.Gly52Val,ENST00000485789,;NKIRAS2,3_prime_UTR_variant,,ENST00000491638,;NKIRAS2,non_coding_transcript_exon_variant,,ENST00000393879,;ZNF385C,downstream_gene_variant,,ENST00000496039,;NKIRAS2,downstream_gene_variant,,ENST00000587028,;	T	ENST00000307641	Transcript	missense_variant	776/2948	155/576	52/191	G/V	gGg/gTg		1		1	NKIRAS2	HGNC	HGNC:17898	protein_coding	YES	CCDS11415.1	ENSP00000303580	Q9NYR9	A0A024R1Z4	UPI00000465E5	NM_001001349.2	deleterious(0)		3/4		Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51419,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF236,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231																	MODERATE	1	SNV	1			1										PASS		rs1390482677	.												T	3	4	94	42022459	42022459	G	T	1	0	0	0	0	1	0	0	0	10480	1232	43	2		2	NKIRAS2	17	42022459	Missense_Mutation	SNP	G	C3N-02158_TP	34173745	42022459	41234982	29	30699											
TMEM105	0	.	GRCh38	chr17	81313796	81313796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcaggcccttcatgtcttCgccttcttatcttcatctca	6	15	6	14	1	6	0	3	0	4	0	8	0	6	0	2	2	0	1	2	2	1	5	rs75774881		C3N-02158_TP	C3N-02158_NB	C	C																c.245G>A	p.Arg82Gln	p.R82Q	ENST00000332900	3/3	329	287	42	186	186	0	strelka-varscan-mutect	TMEM105,missense_variant,p.Arg82Gln,ENST00000332900,NM_178520.3;TMEM105,missense_variant,p.Arg60Gln,ENST00000574093,;LINC00482,upstream_gene_variant,,ENST00000332012,;	T	ENST00000332900	Transcript	missense_variant	795/3321	245/390	82/129	R/Q	cGa/cAa	rs75774881	1		-1	TMEM105	HGNC	HGNC:26794	protein_coding	YES	CCDS11781.1	ENSP00000329795	Q8N8V8		UPI0000071895	NM_178520.3	tolerated_low_confidence(0.37)		3/3																			MODERATE		SNV	2			1										PASS		rs75774881	.												T	3	4	94	81313796	81313796	C	T	1	0	0	0	0	1	0	0	0	16463	884	31	1		1	TMEM105	17	81313796	Missense_Mutation	SNP	C	C3N-02158_TP	39291337	81313796	1943645	30	30700											
FASN	0	.	GRCh38	chr17	82089381	82089381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccacgaactcaaacaccgGggcctggacatcgtgggagc	10	5	12	14	3	1	0	1	0	0	0	3	3	2	2	3	4	3	0	3	4	2	0	novel		C3N-02158_TP	C3N-02158_NB	G	G																c.1969C>T	p.Pro657Ser	p.P657S	ENST00000306749	13/43	349	308	41	240	239	1	strelka-varscan-mutect	FASN,missense_variant,p.Pro657Ser,ENST00000306749,NM_004104.4;FASN,missense_variant,p.Pro657Ser,ENST00000634990,;FASN,downstream_gene_variant,,ENST00000635197,;FASN,downstream_gene_variant,,ENST00000637525,;FASN,upstream_gene_variant,,ENST00000579410,;	A	ENST00000306749	Transcript	missense_variant	2188/8565	1969/7536	657/2511	P/S	Ccg/Tcg		1		-1	FASN	HGNC	HGNC:3594	protein_coding	YES	CCDS11801.1	ENSP00000304592	P49327		UPI000013EB82	NM_004104.4	tolerated(0.6)		13/43		Gene3D:3.30.70.250,Pfam_domain:PF00698,hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF280,SMART_domains:SM00827,Superfamily_domains:SSF55048																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	94	82089381	82089381	G	A	1	0	0	0	0	1	0	0	0	5543	1246	43	3		3	FASN	17	82089381	Missense_Mutation	SNP	G	C3N-02158_TP	775585	82089381	1168060	31	30701											
TXNDC2	0	.	GRCh38	chr18	9887610	9887610	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgacattcccaagtcTccaaaacaagccatccagcc	13	6	8	14	0	1	1	0	1	1	0	4	2	3	1	5	1	3	0	5	1	4	1	novel		C3N-02158_TP	C3N-02158_NB	T	T																c.1131T>C	p.=	p.S377S	ENST00000306084	2/2	172	162	10	186	185	1	varscan-mutect	TXNDC2,synonymous_variant,p.=,ENST00000357775,NM_032243.5;TXNDC2,synonymous_variant,p.=,ENST00000611534,;TXNDC2,synonymous_variant,p.=,ENST00000306084,NM_001098529.1;TXNDC2,3_prime_UTR_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,;	C	ENST00000306084	Transcript	synonymous_variant	1330/1873	1131/1662	377/553	S	tcT/tcC		1		1	TXNDC2	HGNC	HGNC:16470	protein_coding	YES	CCDS42414.1	ENSP00000304908	Q86VQ3	A0A140VJY8	UPI000013EAE7	NM_001098529.1			2/2		hmmpanther:PTHR10438:SF107,hmmpanther:PTHR10438																	LOW	1	SNV	2			1										PASS		rs1177159224	.												C	2	2	94	9887610	9887610	T	C	1	0	0	0	0	0	0	0	1	17313	1538	54	5		5	TXNDC2	18	9887610	Silent	SNP	T	C3N-02158_TP		9887610	70485675	32	30702											
SMARCA4	0	.	GRCh38	chr19	11030751	11030751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccacgaaggcggaggaccGgggcatgctgctgaaaacct	12	4	14	11	3	0	1	0	1	0	0	0	4	0	3	3	5	4	3	3	5	4	0			C3N-02158_TP	C3N-02158_NB	G	G																c.3404G>A	p.Arg1135Gln	p.R1135Q	ENST00000429416	26/36	296	257	39	247	247	0	strelka-varscan-mutect	SMARCA4,missense_variant,p.Arg1135Gln,ENST00000429416,NM_001128844.1;SMARCA4,missense_variant,p.Arg1199Gln,ENST00000413806,;SMARCA4,missense_variant,p.Arg1135Gln,ENST00000450717,NM_001128849.1;SMARCA4,missense_variant,p.Arg1135Gln,ENST00000344626,NM_003072.3;SMARCA4,missense_variant,p.Arg1135Gln,ENST00000590574,NM_001128847.1;SMARCA4,missense_variant,p.Arg1135Gln,ENST00000589677,NM_001128846.1;SMARCA4,missense_variant,p.Arg1135Gln,ENST00000541122,NM_001128845.1;SMARCA4,missense_variant,p.Arg1135Gln,ENST00000444061,NM_001128848.1;SMARCA4,upstream_gene_variant,,ENST00000592158,;uc_338,upstream_gene_variant,,ENST00000620113,;SMARCA4,upstream_gene_variant,,ENST00000538456,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;SMARCA4,upstream_gene_variant,,ENST00000586892,;	A	ENST00000429416	Transcript	missense_variant	3685/5691	3404/4944	1135/1647	R/Q	cGg/cAg	COSM1740484,COSM1740485,COSM5131115,COSM5131116	1		1	SMARCA4	HGNC	HGNC:11100	protein_coding	YES	CCDS12253.1	ENSP00000395654	P51532	A7E2E1	UPI000006F973	NM_001128844.1	deleterious(0)		26/36		PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540											1,1,1,1						MODERATE	1	SNV	2		1,1,1,1	1										PASS		.	.												A	3	1	94	11030751	11030751	G	A	1	0	0	0	0	1	0	0	0	15063	1116	39	1		1	SMARCA4	19	11030751	Missense_Mutation	SNP	G	C3N-02158_TP		11030751	47586865	33	30703											
ZNF792	0	.	GRCh38	chr19	34959192	34959192	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgcagaaaccctgctgtGgccacaaagtccttcccacc	10	7	7	17	0	0	1	0	0	0	1	2	1	2	1	5	1	3	2	5	1	2	1	novel		C3N-02158_TP	C3N-02158_NB	G	G																c.663C>G	p.=	p.A221A	ENST00000404801	4/4	157	136	21	135	135	0	strelka-varscan-mutect	ZNF792,synonymous_variant,p.=,ENST00000404801,NM_175872.4;ZNF792,synonymous_variant,p.=,ENST00000605484,;	C	ENST00000404801	Transcript	synonymous_variant	1050/3888	663/1899	221/632	A	gcC/gcG		1		-1	ZNF792	HGNC	HGNC:24751	protein_coding	YES	CCDS12440.2	ENSP00000385099	Q3KQV3		UPI0000202090	NM_175872.4			4/4		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF187																	LOW	1	SNV	2			1										PASS		rs1386152188	.												C	2	2	94	34959192	34959192	G	C	1	0	0	0	0	0	0	0	1	18749	1335	47	4		4	ZNF792	19	34959192	Silent	SNP	G	C3N-02158_TP	23928441	34959192	23658424	34	30704											
HRC	0	.	GRCh38	chr19	49154659	49154659	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcctcctcctcctcctcTtctccttcatcatcttcccc	2	16	0	23	0	5	0	2	0	3	0	13	0	12	0	9	0	0	0	9	0	0	3	rs7409255		C3N-02158_TP	C3N-02158_NB	T	T																c.579A>G	p.=	p.E193E	ENST00000252825	1/6	115	106	9	109	107	2	varscan-mutect	HRC,synonymous_variant,p.=,ENST00000252825,NM_002152.2;HRC,synonymous_variant,p.=,ENST00000595625,;PPFIA3,downstream_gene_variant,,ENST00000334186,NM_003660.3;PPFIA3,downstream_gene_variant,,ENST00000602351,;TRPM4,upstream_gene_variant,,ENST00000252826,NM_017636.3;TRPM4,upstream_gene_variant,,ENST00000427978,NM_001195227.1;TRPM4,upstream_gene_variant,,ENST00000599628,;PPFIA3,downstream_gene_variant,,ENST00000602848,;PPFIA3,downstream_gene_variant,,ENST00000602897,;TRPM4,upstream_gene_variant,,ENST00000598691,;HRC,upstream_gene_variant,,ENST00000598858,;TRPM4,upstream_gene_variant,,ENST00000596338,;TRPM4,upstream_gene_variant,,ENST00000595519,NM_001321283.1;TRPM4,upstream_gene_variant,,ENST00000598502,NM_001321282.1;PPFIA3,downstream_gene_variant,,ENST00000602655,;TRPM4,upstream_gene_variant,,ENST00000598697,NM_001321285.1;PPFIA3,downstream_gene_variant,,ENST00000602783,;PPFIA3,downstream_gene_variant,,ENST00000602905,;HRC,upstream_gene_variant,,ENST00000595167,;	C	ENST00000252825	Transcript	synonymous_variant	766/2385	579/2100	193/699	E	gaA/gaG	rs7409255	1		-1	HRC	HGNC	HGNC:5178	protein_coding	YES	CCDS12759.1	ENSP00000252825	P23327		UPI0000135F21	NM_002152.2			1/6		hmmpanther:PTHR15054,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs7409255	.												C	2	2	94	49154659	49154659	T	C	1	0	0	0	0	0	0	0	1	7247	1606	56	5		5	HRC	19	49154659	Silent	SNP	T	C3N-02158_TP	14195467	49154659	9462957	35	30705											
CD33	0	.	GRCh38	chr19	51225979	51225979	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcactcctcggtgctcataAtcaccccacggccccaggac	8	7	7	19	2	3	0	3	0	0	0	5	1	4	1	5	3	1	1	5	3	1	1			C3N-02158_TP	C3N-02158_NB	A	A																c.595A>T	p.Ile199Phe	p.I199F	ENST00000262262	3/7	184	161	23	175	175	0	strelka-varscan-mutect	CD33,missense_variant,p.Ile72Phe,ENST00000436584,;CD33,missense_variant,p.Ile199Phe,ENST00000262262,NM_001772.3;CD33,missense_variant,p.Ile199Phe,ENST00000391796,NM_001177608.1;CD33,missense_variant,p.Ile72Phe,ENST00000421133,NM_001082618.1;CD33,non_coding_transcript_exon_variant,,ENST00000598473,;CD33,non_coding_transcript_exon_variant,,ENST00000601785,;	T	ENST00000262262	Transcript	missense_variant	616/1444	595/1095	199/364	I/F	Atc/Ttc	COSM5603118,COSM5603119	1		1	CD33	HGNC	HGNC:1659	protein_coding	YES	CCDS33084.1	ENSP00000262262	P20138	Q546G0	UPI000013D285	NM_001772.3	tolerated(0.06)		3/7		PROSITE_profiles:PS50835,hmmpanther:PTHR12035:SF52,hmmpanther:PTHR12035,Gene3D:2.60.40.10,Pfam_domain:PF00047,SMART_domains:SM00409,Superfamily_domains:SSF48726											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	94	51225979	51225979	A	T	1	0	0	0	0	1	0	0	0	2709	101	4	4		4	CD33	19	51225979	Missense_Mutation	SNP	A	C3N-02158_TP	2071320	51225979	7391637	36	30706											
IL11	0	.	GRCh38	chr19	55368364	55368364	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgcagccttgtcagcacaCctgggagctggggatagagc	8	7	14	12	1	1	1	1	0	0	1	2	3	1	3	2	3	4	3	2	3	1	2	rs764018519		C3N-02158_TP	C3N-02158_NB	C	C																c.275G>T	p.Gly92Val	p.G92V	ENST00000264563	4/5	47	41	6	26	26	0	strelka-mutect	IL11,missense_variant,p.Gly92Val,ENST00000264563,NM_000641.3;IL11,missense_variant,p.Gly92Val,ENST00000585513,;IL11,missense_variant,p.Gly13Val,ENST00000590625,NM_001267718.1;IL11,missense_variant,p.Gly13Val,ENST00000587093,;	A	ENST00000264563	Transcript	missense_variant	338/2281	275/600	92/199	G/V	gGt/gTt	rs764018519	1		-1	IL11	HGNC	HGNC:5966	protein_coding	YES	CCDS12923.1	ENSP00000264563	P20809	A8K3F7	UPI000000D8E5	NM_000641.3	deleterious(0.04)		4/5		Gene3D:1.20.1250.10,Pfam_domain:PF07400,hmmpanther:PTHR16922,hmmpanther:PTHR16922:SF0,Superfamily_domains:SSF47266																	MODERATE	1	SNV	1			1										PASS		rs764018519	.												A	3	1	94	55368364	55368364	C	A	1	0	0	0	0	1	0	0	0	7530	507	18	2		2	IL11	19	55368364	Missense_Mutation	SNP	C	C3N-02158_TP	4142385	55368364	3249252	37	30707											
KCNS1	0	.	GRCh38	chr20	45097938	45097938	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctgaaccaggcgatgcaGaagtactcgaggcgtcgcag	12	5	14	10	4	0	2	0	1	0	1	2	4	0	2	1	2	4	4	1	2	4	1	novel		C3N-02158_TP	C3N-02158_NB	G	G																c.834C>G	p.Phe278Leu	p.F278L	ENST00000306117	4/5	238	212	26	183	183	0	strelka-varscan-mutect	KCNS1,missense_variant,p.Phe278Leu,ENST00000306117,NM_002251.3;KCNS1,missense_variant,p.Phe278Leu,ENST00000537075,;	C	ENST00000306117	Transcript	missense_variant	1231/4538	834/1581	278/526	F/L	ttC/ttG		1		-1	KCNS1	HGNC	HGNC:6300	protein_coding	YES	CCDS13342.1	ENSP00000307694	Q96KK3	A2RUL8	UPI000012DCD1	NM_002251.3	tolerated(0.17)		4/5		Gene3D:1.20.120.350,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF61,Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	94	45097938	45097938	G	C	1	0	0	0	0	1	0	0	0	8004	933	33	4		4	KCNS1	20	45097938	Missense_Mutation	SNP	G	C3N-02158_TP		45097938	19346229	38	30708											
CSE1L	0	.	GRCh38	chr20	49085365	49085365	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacttcctggctcttcaGaaaatgaatatattatgaaa	15	13	5	8	0	3	3	2	2	1	1	4	3	4	3	1	1	0	1	1	1	7	5	novel		C3N-02158_TP	C3N-02158_NB	G	G																c.1702G>T	p.Glu568Ter	p.E568*	ENST00000262982	16/25	222	143	79	99	99	0	strelka-varscan-mutect	CSE1L,stop_gained,p.Glu568Ter,ENST00000262982,NM_001316.3;CSE1L,stop_gained,p.Glu512Ter,ENST00000396192,NM_001256135.1;	T	ENST00000262982	Transcript	stop_gained	1825/3553	1702/2916	568/971	E/*	Gaa/Taa		1		1	CSE1L	HGNC	HGNC:2431	protein_coding	YES	CCDS13412.1	ENSP00000262982	P55060		UPI000013D377	NM_001316.3			16/25		hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF8,Gene3D:1.25.10.10,Pfam_domain:PF03378,Superfamily_domains:SSF48371																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	94	49085365	49085365	G	T	1	0	0	0	0	0	1	0	0	3731	943	33	2		2	CSE1L	20	49085365	Nonsense_Mutation	SNP	G	C3N-02158_TP	3987427	49085365	15358802	39	30709											
MAGEB6	0	.	GRCh38	chrX	26194176	26194176	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagtctcagggagcttcAcccactggctctcctgatgc	7	9	11	14	0	3	1	2	1	2	0	5	3	3	3	2	3	2	2	2	3	0	1	novel		C3N-02158_TP	C3N-02158_NB	A	A																c.330A>T	p.=	p.S110S	ENST00000379034	2/2	462	414	48	322	322	0	strelka-varscan-mutect	MAGEB6,synonymous_variant,p.=,ENST00000379034,NM_173523.2;	T	ENST00000379034	Transcript	synonymous_variant	479/1949	330/1224	110/407	S	tcA/tcT		1		1	MAGEB6	HGNC	HGNC:23796	protein_coding	YES	CCDS14217.1	ENSP00000368320	Q8N7X4		UPI00001413F4	NM_173523.2			2/2		Pfam_domain:PF12440,SMART_domains:SM01392																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	94	26194176	26194176	A	T	1	0	0	0	0	0	0	0	1	9096	146	6	4		4	MAGEB6	23	26194176	Silent	SNP	A	C3N-02158_TP		26194176	129846719	40	30710											
CFAP47	0	.	GRCh38	chrX	36236700	36236700	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatagggtaaacttattctAcaaaatgaagtagatggtag	16	12	9	4	0	2	2	1	1	1	1	2	2	2	2	0	2	2	3	0	2	10	7	novel		C3N-02158_TP	C3N-02158_NB	A	A																c.7173A>T	p.=	p.L2391L	ENST00000378653	48/64	289	244	45	166	166	0	strelka-varscan-mutect	CFAP47,synonymous_variant,p.=,ENST00000378653,NM_001304548.1;	T	ENST00000378653	Transcript	synonymous_variant	7239/9943	7173/9564	2391/3187	L	ctA/ctT		1		1	CFAP47	HGNC	HGNC:26708	protein_coding			ENSP00000367922		A0A140T8X2	UPI000596DACD	NM_001304548.1			48/64		hmmpanther:PTHR23053																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	94	36236700	36236700	A	T	1	0	0	0	0	0	0	0	1	3022	378	14	4		4	CFAP47	23	36236700	Silent	SNP	A	C3N-02158_TP	10042524	36236700	119804195	41	30711											
CHST7	0	.	GRCh38	chrX	46575213	46575213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcagcgcgcgacgccCgggaggcggtgcacgcctgg	5	4	17	15	7	1	0	1	0	0	0	1	2	1	1	3	4	2	1	3	4	0	0	novel		C3N-02158_TP	C3N-02158_NB	C	C																c.1282C>T	p.Arg428Trp	p.R428W	ENST00000276055	1/2	143	124	19	79	79	0	strelka-varscan-mutect	CHST7,missense_variant,p.Arg428Trp,ENST00000276055,NM_019886.3;	T	ENST00000276055	Transcript	missense_variant	1430/2289	1282/1461	428/486	R/W	Cgg/Tgg		1		1	CHST7	HGNC	HGNC:13817	protein_coding	YES	CCDS14268.1	ENSP00000276055	Q9NS84		UPI000000DADD	NM_019886.3	deleterious(0.01)		1/2		Gene3D:3.40.50.300,Pfam_domain:PF00685,PIRSF_domain:PIRSF005883,hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF5,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		rs1456028098	.												T	3	4	94	46575213	46575213	C	T	1	0	0	0	0	1	0	0	0	3169	643	23	1		1	CHST7	23	46575213	Missense_Mutation	SNP	C	C3N-02158_TP	10338513	46575213	109465682	42	30712											
KDM5C	0	.	GRCh38	chrX	53196698	53196698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctacctggcctccaggCagaggtgggctttctcctcc	5	9	12	15	0	1	1	0	0	1	1	4	2	3	2	6	5	1	2	6	5	1	2	novel		C3N-02158_TP	C3N-02158_NB	C	C																c.2969G>T	p.Cys990Phe	p.C990F	ENST00000375401	19/26	167	150	17	97	97	0	strelka-varscan-mutect	KDM5C,missense_variant,p.Cys923Phe,ENST00000452825,NM_001146702.1;KDM5C,missense_variant,p.Cys990Phe,ENST00000375401,NM_004187.3;KDM5C,missense_variant,p.Cys989Phe,ENST00000404049,NM_001282622.1;KDM5C,missense_variant,p.Cys990Phe,ENST00000375379,;KDM5C,missense_variant,p.Cys949Phe,ENST00000375383,;MIR6895,upstream_gene_variant,,ENST00000613497,;MIR6894,downstream_gene_variant,,ENST00000622662,;KDM5C,downstream_gene_variant,,ENST00000465402,;KDM5C,downstream_gene_variant,,ENST00000477109,;KDM5C,downstream_gene_variant,,ENST00000497100,;KDM5C,downstream_gene_variant,,ENST00000481369,;	A	ENST00000375401	Transcript	missense_variant	3502/6031	2969/4683	990/1560	C/F	tGc/tTc		1		-1	KDM5C	HGNC	HGNC:11114	protein_coding	YES	CCDS14351.1	ENSP00000364550	P41229		UPI000013CBE3	NM_004187.3	tolerated(0.08)		19/26		Pfam_domain:PF08429,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF43																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	94	53196698	53196698	C	A	1	0	0	0	0	1	0	0	0	8053	710	25	2		2	KDM5C	23	53196698	Missense_Mutation	SNP	C	C3N-02158_TP	6621485	53196698	102844197	43	30713											
EDA	0	.	GRCh38	chrX	70035358	70035358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttgttgcctctcactcagGtatactacatcaacttcact	9	15	4	13	0	5	0	4	0	2	0	6	0	5	0	1	1	4	2	1	1	4	6	novel		C3N-02158_TP	C3N-02158_NB	G	G																c.925G>A	p.Val309Ile	p.V309I	ENST00000374552	8/8	377	337	40	226	226	0	strelka-varscan-mutect	EDA,missense_variant,p.Val309Ile,ENST00000374552,NM_001399.4;EDA,missense_variant,p.Val307Ile,ENST00000374553,NM_001005609.1;EDA,missense_variant,p.Val177Ile,ENST00000616899,;EDA,missense_variant,p.Val304Ile,ENST00000524573,NM_001005612.2;EDA,downstream_gene_variant,,ENST00000503592,;	A	ENST00000374552	Transcript	missense_variant,splice_region_variant	1167/5278	925/1176	309/391	V/I	Gta/Ata		1		1	EDA	HGNC	HGNC:3157	protein_coding	YES	CCDS14394.1	ENSP00000363680	Q92838		UPI0000052244	NM_001399.4	deleterious_low_confidence(0.03)		8/8		Gene3D:2.60.120.40,Pfam_domain:PF00229,PROSITE_profiles:PS50049,hmmpanther:PTHR15151,hmmpanther:PTHR15151:SF4,Superfamily_domains:SSF49842																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	94	70035358	70035358	G	A	1	0	0	0	0	1	0	0	0	4731	1275	44	3		3	EDA	23	70035358	Missense_Mutation	SNP	G	C3N-02158_TP	16838660	70035358	86005537	44	30714											
TEX11	0	.	GRCh38	chrX	70682820	70682820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggaaatgaaacccaacaGattctctgtacaatgagaca	17	8	7	9	0	2	3	1	2	1	2	3	5	2	4	1	1	3	1	1	1	5	2			C3N-02158_TP	C3N-02158_NB	G	G																c.1055C>T	p.Ser352Phe	p.S352F	ENST00000395889	15/31	205	189	16	128	128	0	strelka-varscan-mutect	TEX11,missense_variant,p.Ser352Phe,ENST00000395889,NM_001003811.1;TEX11,missense_variant,p.Ser337Phe,ENST00000374333,NM_031276.2;TEX11,missense_variant,p.Ser352Phe,ENST00000344304,;TEX11,missense_variant,p.Ser27Phe,ENST00000374320,;	A	ENST00000395889	Transcript	missense_variant	1211/3133	1055/2823	352/940	S/F	tCt/tTt	COSM1124519,COSM4866011	1		-1	TEX11	HGNC	HGNC:11733	protein_coding	YES	CCDS35323.1	ENSP00000379226	Q8IYF3		UPI000013CA89	NM_001003811.1	tolerated(0.26)		15/31		hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF386,Pfam_domain:PF08631											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												A	3	1	94	70682820	70682820	G	A	1	0	0	0	0	1	0	0	0	16195	956	33	3		3	TEX11	23	70682820	Missense_Mutation	SNP	G	C3N-02158_TP	647462	70682820	85358075	45	30715											
F9	0	.	GRCh38	chrX	139561619	139561619	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaatgcagctattaataagTacaaccatgacattgccctt	15	11	5	10	0	0	1	0	1	0	0	0	1	0	1	2	0	5	3	2	0	6	6	novel		C3N-02158_TP	C3N-02158_NB	T	T																c.934T>C	p.Tyr312His	p.Y312H	ENST00000218099	8/8	127	97	30	116	116	0	strelka-varscan-mutect	F9,missense_variant,p.Tyr312His,ENST00000218099,NM_000133.3;F9,missense_variant,p.Tyr274His,ENST00000394090,;	C	ENST00000218099	Transcript	missense_variant	941/2780	934/1386	312/461	Y/H	Tac/Cac		1		1	F9	HGNC	HGNC:3551	protein_coding	YES	CCDS14666.1	ENSP00000218099	P00740		UPI000002BA13	NM_000133.3	tolerated(0.17)		8/8		Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001143,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF135,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	94	139561619	139561619	T	C	1	0	0	0	0	1	0	0	0	5220	1638	57	5		5	F9	23	139561619	Missense_Mutation	SNP	T	C3N-02158_TP	68878799	139561619	16479276	46	30716											
WLS	0	.	GRCh38	chr1	68126279	68126279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctcagtgggtccgtccaCatgggtgatagtggtggtga	7	11	16	7	1	1	2	1	2	1	0	4	3	3	2	2	4	0	0	2	4	1	1	novel		C3N-02379_TP	C3N-02379_NB	C	C																c.1573G>A	p.Val525Met	p.V525M	ENST00000262348	12/12	296	272	24	375	375	0	strelka-varscan-mutect	WLS,missense_variant,p.Val525Met,ENST00000262348,NM_024911.6;WLS,missense_variant,p.Val434Met,ENST00000370976,NM_001193334.1;WLS,intron_variant,,ENST00000354777,NM_001002292.3;GNG12-AS1,intron_variant,,ENST00000420587,;GNG12-AS1,intron_variant,,ENST00000413628,;WLS,non_coding_transcript_exon_variant,,ENST00000498615,;	T	ENST00000262348	Transcript	missense_variant	1827/2748	1573/1626	525/541	V/M	Gtg/Atg		1		-1	WLS	HGNC	HGNC:30238	protein_coding		CCDS642.1	ENSP00000262348	Q5T9L3		UPI0000049FDB	NM_024911.6	tolerated(0.11)		12/12		hmmpanther:PTHR13449																	MODERATE		SNV	1			1										PASS		.	.												T	3	4	95	68126279	68126279	C	T	1	0	0	0	0	1	0	0	0	17932	478	17	3		3	WLS	1	68126279	Missense_Mutation	SNP	C	C3N-02379_TP		68126279	180830143	1	30717											
PRRC2C	0	.	GRCh38	chr1	171513033	171513033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagagtcttggaaaagtcGgtatttcacggcgtatgcct	10	12	11	8	3	2	1	1	0	1	1	3	2	2	2	1	3	2	2	1	3	5	5	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.145G>A	p.Gly49Ser	p.G49S	ENST00000338920	3/34	138	121	17	148	148	0	strelka-varscan-mutect	PRRC2C,missense_variant,p.Gly51Ser,ENST00000367742,;PRRC2C,missense_variant,p.Gly49Ser,ENST00000338920,NM_015172.3;PRRC2C,missense_variant,p.Gly49Ser,ENST00000426496,;PRRC2C,5_prime_UTR_variant,,ENST00000392078,;PRRC2C,non_coding_transcript_exon_variant,,ENST00000476522,;PRRC2C,non_coding_transcript_exon_variant,,ENST00000467601,;PRRC2C,non_coding_transcript_exon_variant,,ENST00000463586,;	A	ENST00000338920	Transcript	missense_variant	382/10355	145/8454	49/2817	G/S	Ggt/Agt		1		1	PRRC2C	HGNC	HGNC:24903	protein_coding	YES	CCDS1296.2	ENSP00000343629	Q9Y520		UPI0000E265EC	NM_015172.3	deleterious(0.01)		3/34		hmmpanther:PTHR14038,hmmpanther:PTHR14038:SF6,Pfam_domain:PF07001																	MODERATE	1	SNV	5			1										PASS		rs1408902539	.												A	3	1	95	171513033	171513033	G	A	1	0	0	0	0	1	0	0	0	12750	1116	39	1		1	PRRC2C	1	171513033	Missense_Mutation	SNP	G	C3N-02379_TP	103386754	171513033	77443389	2	30718											
RRP15	0	.	GRCh38	chr1	218331041	218331041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactgggacaaggaaagtGatgggccagatgacagcaga	16	4	15	6	0	0	5	0	2	0	3	0	7	0	7	1	3	1	1	1	3	3	0	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.799G>T	p.Asp267Tyr	p.D267Y	ENST00000366932	5/5	246	202	44	275	275	0	strelka-varscan-mutect	RRP15,missense_variant,p.Asp267Tyr,ENST00000366932,NM_016052.3;	T	ENST00000366932	Transcript	missense_variant	829/7771	799/849	267/282	D/Y	Gat/Tat		1		1	RRP15	HGNC	HGNC:24255	protein_coding	YES	CCDS1520.2	ENSP00000355899	Q9Y3B9		UPI0000205BC1	NM_016052.3	deleterious(0)		5/5		hmmpanther:PTHR13245																	MODERATE	1	SNV	1			1										PASS		rs1266530158	.												T	3	4	95	218331041	218331041	G	T	1	0	0	0	0	1	0	0	0	13942	1290	45	2		2	RRP15	1	218331041	Missense_Mutation	SNP	G	C3N-02379_TP	46818008	218331041	30625381	3	30719											
LEFTY1	0	.	GRCh38	chr1	225888008	225888008	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgtgtgctggcctccAacgccaggaacctgccggcc	6	6	14	15	2	0	0	0	0	0	0	1	1	1	1	6	4	4	2	6	4	2	0	rs145431393		C3N-02379_TP	C3N-02379_NB	A	A																c.275T>C	p.Leu92Ser	p.L92S	ENST00000272134	2/4	107	97	10	103	103	0	varscan-mutect	LEFTY1,missense_variant,p.Leu92Ser,ENST00000272134,NM_020997.3;RP4-559A3.7,synonymous_variant,p.=,ENST00000432920,;LEFTY1,5_prime_UTR_variant,,ENST00000492457,;	G	ENST00000272134	Transcript	missense_variant	355/1626	275/1101	92/366	L/S	tTg/tCg	rs145431393	1		-1	LEFTY1	HGNC	HGNC:6552	protein_coding	YES	CCDS1548.1	ENSP00000272134	O75610		UPI000003721B	NM_020997.3	tolerated(1)		2/4		hmmpanther:PTHR11848:SF167,hmmpanther:PTHR11848,PIRSF_domain:PIRSF037402																	MODERATE	1	SNV	1			1										PASS		rs145431393	.												G	3	3	95	225888008	225888008	A	G	1	0	0	0	0	1	0	0	0	8623	131	5	5		5	LEFTY1	1	225888008	Missense_Mutation	SNP	A	C3N-02379_TP	7556967	225888008	23068414	4	30720											
ZNF804A	0	.	GRCh38	chr2	184938341	184938341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctgaggcccttccacaagGaaagatgaatgagacaccaa	15	5	11	10	0	0	4	0	3	0	2	1	6	1	5	3	3	0	1	3	3	4	1			C3N-02379_TP	C3N-02379_NB	G	G																c.2945G>A	p.Gly982Glu	p.G982E	ENST00000302277	4/4	262	161	101	238	238	0	strelka-varscan-mutect	ZNF804A,missense_variant,p.Gly982Glu,ENST00000302277,NM_194250.1;ZNF804A,missense_variant,p.Gly897Glu,ENST00000613975,;	A	ENST00000302277	Transcript	missense_variant	3539/4690	2945/3630	982/1209	G/E	gGa/gAa	COSM1721105	1		1	ZNF804A	HGNC	HGNC:21711	protein_coding	YES	CCDS2291.1	ENSP00000303252	Q7Z570		UPI00001B4B18	NM_194250.1	tolerated(0.56)		4/4		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF13											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	95	184938341	184938341	G	A	1	0	0	0	0	1	0	0	0	18755	1174	41	3		3	ZNF804A	2	184938341	Missense_Mutation	SNP	G	C3N-02379_TP		184938341	57255188	5	30721											
ADAMTS9	0	.	GRCh38	chr3	64631462	64631474	+	Frame_Shift_Del	DEL	GTTGTCATCGTCT	GTTGTCATCGTCT	-																															catcccatctcacctaagtaGttgtcatcgtctgtttcccc																								novel		C3N-02379_TP	C3N-02379_NB	GTTGTCATCGTCT	GTTGTCATCGTCT																c.2370_2382delAGACGATGACAAC	p.Asp791ThrfsTer2	p.D791Tfs*2	ENST00000498707	16/40	223	185	38	243	243	0	sindel-varindel-pindel	ADAMTS9,frameshift_variant,p.Asp791ThrfsTer2,ENST00000498707,NM_182920.1;ADAMTS9,frameshift_variant,p.Asp763ThrfsTer2,ENST00000295903,NM_001318781.1;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000475557,;	-	ENST00000498707	Transcript	frameshift_variant	2713-2725/7624	2370-2382/5808	790-794/1935	TDDDN/X	acAGACGATGACAAC/ac		1		-1	ADAMTS9	HGNC	HGNC:13202	protein_coding	YES	CCDS2903.1	ENSP00000418735	Q9P2N4		UPI00000463F0	NM_182920.1			16/40		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF33,Pfam_domain:PF05986																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	95	64631462	64631462	GTTGTCATCGTCT	-	1	0	1	0	1	0	0	0	0	317	1020	36	0		0	ADAMTS9	3	64631462	Frame_Shift_Del	DEL	GTTGTCATCGTCT	C3N-02379_TP		64631462	133664097	6	30722											
IFT122	0	.	GRCh38	chr3	129495515	129495515	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttttcctaccaggggaagTtccatgaggccgccaaactg	9	10	11	11	1	0	1	0	1	0	0	2	2	2	2	5	3	2	2	5	3	3	4	rs73204230		C3N-02379_TP	C3N-02379_NB	T	T																c.2269T>C	p.Phe757Leu	p.F757L	ENST00000296266	19/31	315	295	20	362	356	6	varscan-mutect	IFT122,missense_variant,p.Phe556Leu,ENST00000431818,NM_001280545.1;IFT122,missense_variant,p.Phe757Leu,ENST00000296266,NM_052985.3;IFT122,missense_variant,p.Phe497Leu,ENST00000440957,NM_001280546.1;IFT122,missense_variant,p.Phe706Leu,ENST00000348417,NM_052989.2;IFT122,missense_variant,p.Phe647Leu,ENST00000347300,NM_018262.3;IFT122,missense_variant,p.Phe698Leu,ENST00000507564,NM_001280541.1;IFT122,missense_variant,p.Phe595Leu,ENST00000349441,NM_052990.2;IFT122,missense_variant,p.Phe582Leu,ENST00000504021,;IFT122,missense_variant,p.Phe203Leu,ENST00000509522,;IFT122,missense_variant,p.Phe68Leu,ENST00000507221,;IFT122,non_coding_transcript_exon_variant,,ENST00000513932,;IFT122,3_prime_UTR_variant,,ENST00000512220,;IFT122,non_coding_transcript_exon_variant,,ENST00000506507,;IFT122,intron_variant,,ENST00000511425,;IFT122,downstream_gene_variant,,ENST00000512814,;	C	ENST00000296266	Transcript	missense_variant	2461/4151	2269/3879	757/1292	F/L	Ttc/Ctc	rs73204230	1		1	IFT122	HGNC	HGNC:13556	protein_coding	YES	CCDS3060.1	ENSP00000296266	Q9HBG6		UPI0000141042	NM_052985.3	tolerated(0.18)		19/31		Gene3D:1.25.40.10,hmmpanther:PTHR12764,hmmpanther:PTHR12764:SF4																	MODERATE	1	SNV	1			1										PASS		rs73204230	.												C	3	2	95	129495515	129495515	T	C	1	0	0	0	0	1	0	0	0	7459	1725	60	5		5	IFT122	3	129495515	Missense_Mutation	SNP	T	C3N-02379_TP	64864053	129495515	68800044	7	30723											
PLD1	0	.	GRCh38	chr3	171699816	171699816	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgtttcaggaagatttCtggactcagcctgaaacaat	11	11	11	8	1	3	2	2	1	1	1	3	4	3	4	1	3	2	1	1	3	3	2	novel		C3N-02379_TP	C3N-02379_NB	C	C																c.1156G>T	p.Glu386Ter	p.E386*	ENST00000351298	12/27	183	137	46	174	174	0	strelka-varscan-mutect	PLD1,stop_gained,p.Glu386Ter,ENST00000356327,NM_001130081.2;PLD1,stop_gained,p.Glu386Ter,ENST00000351298,NM_002662.4;PLD1,non_coding_transcript_exon_variant,,ENST00000481505,;	A	ENST00000351298	Transcript	stop_gained	1283/5604	1156/3225	386/1074	E/*	Gaa/Taa		1		-1	PLD1	HGNC	HGNC:9067	protein_coding	YES	CCDS3216.1	ENSP00000342793	Q13393		UPI0000131BDC	NM_002662.4			12/27		hmmpanther:PTHR18896,hmmpanther:PTHR18896:SF57,PIRSF_domain:PIRSF009376,Gene3D:3.30.870.10,Superfamily_domains:SSF56024																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	95	171699816	171699816	C	A	1	0	0	0	0	0	1	0	0	12139	922	32	2		2	PLD1	3	171699816	Nonsense_Mutation	SNP	C	C3N-02379_TP	42204301	171699816	26595743	8	30724											
LSG1	0	.	GRCh38	chr3	194651007	194651007	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcacacaggcagaggccAggctccacatagagagtctg	12	5	12	12	0	2	2	1	0	1	2	3	3	3	2	2	3	0	2	2	3	1	1	novel		C3N-02379_TP	C3N-02379_NB	A	A																c.1293T>C	p.=	p.P431P	ENST00000265245	10/14	157	145	12	129	129	0	strelka-varscan-mutect	LSG1,synonymous_variant,p.=,ENST00000265245,NM_018385.2;LSG1,synonymous_variant,p.=,ENST00000437613,;LSG1,non_coding_transcript_exon_variant,,ENST00000466391,;LSG1,non_coding_transcript_exon_variant,,ENST00000461343,;LSG1,upstream_gene_variant,,ENST00000460584,;LSG1,upstream_gene_variant,,ENST00000475763,;	G	ENST00000265245	Transcript	synonymous_variant	1608/3572	1293/1977	431/658	P	ccT/ccC		1		-1	LSG1	HGNC	HGNC:25652	protein_coding	YES	CCDS33922.1	ENSP00000265245	Q9H089		UPI0000DBEEC1	NM_018385.2			10/14		Gene3D:3.40.50.300,Pfam_domain:PF01926,PROSITE_profiles:PS51721,hmmpanther:PTHR11089,hmmpanther:PTHR11089:SF7,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	95	194651007	194651007	A	G	1	0	0	0	0	0	0	0	1	8955	175	7	5		5	LSG1	3	194651007	Silent	SNP	A	C3N-02379_TP	22951191	194651007	3644552	9	30725											
KIAA1211	0	.	GRCh38	chr4	56327723	56327723	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccccggatgctgccccCgtgtcaacagaaccagcctg	8	6	9	18	2	1	1	1	0	0	1	2	2	2	2	7	1	5	1	7	1	2	0	rs368775360		C3N-02379_TP	C3N-02379_NB	C	C																c.3621C>T	p.=	p.P1207P	ENST00000504228	9/9	257	243	14	341	341	0	strelka-varscan-mutect	KIAA1211,synonymous_variant,p.=,ENST00000504228,;KIAA1211,synonymous_variant,p.=,ENST00000541073,;KIAA1211,synonymous_variant,p.=,ENST00000264229,NM_020722.1;KIAA1211,downstream_gene_variant,,ENST00000514330,;	T	ENST00000504228	Transcript	synonymous_variant	3726/4628	3621/3702	1207/1233	P	ccC/ccT	rs368775360,COSM587539	1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309				9/9													0,1						LOW	1	SNV	5		0,1	1										PASS		rs368775360	.												T	2	4	95	56327723	56327723	C	T	1	0	0	0	0	0	0	0	1	8107	639	23	1		1	KIAA1211	4	56327723	Silent	SNP	C	C3N-02379_TP		56327723	133886832	10	30726											
PTPN13	0	.	GRCh38	chr4	86807769	86807769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaggagaaaaaatcaaaTgccagcgctattggcccaac	17	6	9	9	1	1	2	1	0	0	2	1	3	1	2	2	2	3	1	2	2	8	3	novel		C3N-02379_TP	C3N-02379_NB	T	T																c.6970T>C	p.Cys2324Arg	p.C2324R	ENST00000436978	45/48	293	248	45	324	323	1	strelka-varscan-mutect	PTPN13,missense_variant,p.Cys2324Arg,ENST00000436978,NM_080685.2;PTPN13,missense_variant,p.Cys2300Arg,ENST00000427191,NM_006264.2;PTPN13,missense_variant,p.Cys2319Arg,ENST00000411767,NM_080683.2;PTPN13,missense_variant,p.Cys2324Arg,ENST00000511467,;PTPN13,missense_variant,p.Cys2128Arg,ENST00000316707,NM_080684.2;	C	ENST00000436978	Transcript	missense_variant	7450/8573	6970/7473	2324/2490	C/R	Tgc/Cgc		1		1	PTPN13	HGNC	HGNC:9646	protein_coding	YES	CCDS47093.1	ENSP00000394794	Q12923		UPI000016075D	NM_080685.2	deleterious(0)		45/48		PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF197,hmmpanther:PTHR19134,PIRSF_domain:PIRSF000933,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	95	86807769	86807769	T	C	1	0	0	0	0	1	0	0	0	12935	1464	51	5		5	PTPN13	4	86807769	Missense_Mutation	SNP	T	C3N-02379_TP	30480046	86807769	103406786	11	30727											
ETNPPL	0	.	GRCh38	chr4	108748046	108748046	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttagccttctgttttttCagtaactcagtgagataatt	9	19	7	6	0	3	1	2	1	1	1	3	2	3	1	1	0	2	3	1	0	3	9			C3N-02379_TP	C3N-02379_NB	C	C																c.1041G>A	p.=	p.L347L	ENST00000296486	9/13	254	233	21	236	236	0	strelka-varscan-mutect	ETNPPL,synonymous_variant,p.=,ENST00000296486,NM_031279.3;ETNPPL,synonymous_variant,p.=,ENST00000411864,NM_001146590.1;ETNPPL,synonymous_variant,p.=,ENST00000510706,;ETNPPL,synonymous_variant,p.=,ENST00000512646,NM_001146627.1;ETNPPL,non_coding_transcript_exon_variant,,ENST00000503912,;ETNPPL,downstream_gene_variant,,ENST00000505233,;ETNPPL,downstream_gene_variant,,ENST00000509402,;ETNPPL,downstream_gene_variant,,ENST00000511923,;	T	ENST00000296486	Transcript	synonymous_variant	1196/2099	1041/1500	347/499	L	ctG/ctA	COSM4436871	1		-1	ETNPPL	HGNC	HGNC:14404	protein_coding	YES	CCDS3682.1	ENSP00000296486	Q8TBG4		UPI000004B638	NM_031279.3			9/13		hmmpanther:PTHR11986:SF63,hmmpanther:PTHR11986,Gene3D:3.90.1150.10,Pfam_domain:PF00202,Superfamily_domains:SSF53383											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	95	108748046	108748046	C	T	1	0	0	0	0	0	0	0	1	5138	813	29	3		3	ETNPPL	4	108748046	Silent	SNP	C	C3N-02379_TP	21940277	108748046	81466509	12	30728											
HHIP	0	.	GRCh38	chr4	144734750	144734751	+	Frame_Shift_Ins	INS	-	-	C																															tttaatgtagacctttaatgINScctgaggaatgcagagccac																								novel		C3N-02379_TP	C3N-02379_NB	-	-																c.1772dupC	p.Glu592Ter	p.E592*	ENST00000296575	12/13	37	27	10	51	51	0	sindel-varindel-pindel	HHIP,frameshift_variant,p.Glu592Ter,ENST00000296575,NM_022475.2;HHIP,upstream_gene_variant,,ENST00000503090,;	C	ENST00000296575	Transcript	frameshift_variant	2425-2426/10072	1770-1771/2103	590-591/700	-/X	-/C		1		1	HHIP	HGNC	HGNC:14866	protein_coding	YES	CCDS3762.1	ENSP00000296575	Q96QV1		UPI0000071302	NM_022475.2			12/13		hmmpanther:PTHR19328,hmmpanther:PTHR19328:SF27,Gene3D:2.120.10.30																	HIGH	1	insertion	1	2		1										PASS		.	.												C	7	5	95	144734750	144734750	-	C	1	0	1	1	0	0	0	0	0	6977	1319	46	0		0	HHIP	4	144734750	Frame_Shift_Ins	INS	-	C3N-02379_TP	35986704	144734750	45479805	13	30729											
TLL1	0	.	GRCh38	chr4	166014512	166014512	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caattggtcagcgaacccgtCtaagcaaaggagatatcgca	14	7	10	10	3	2	1	1	0	1	1	3	3	2	1	1	2	3	2	1	2	5	3	rs750739998		C3N-02379_TP	C3N-02379_NB	C	C																c.994C>T	p.=	p.L332L	ENST00000061240	8/21	357	293	64	465	464	1	strelka-varscan-mutect	TLL1,synonymous_variant,p.=,ENST00000061240,NM_012464.4;TLL1,synonymous_variant,p.=,ENST00000507499,;TLL1,synonymous_variant,p.=,ENST00000513213,NM_001204760.1;TLL1,3_prime_UTR_variant,,ENST00000509505,;	T	ENST00000061240	Transcript	synonymous_variant	1641/6708	994/3042	332/1013	L	Cta/Tta	rs750739998,COSM1309876	1		1	TLL1	HGNC	HGNC:11843	protein_coding	YES	CCDS3811.1	ENSP00000061240	O43897		UPI0000072EED	NM_012464.4			8/21		Gene3D:3.40.390.10,Pfam_domain:PF01400,PIRSF_domain:PIRSF001199,Prints_domain:PR00480,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,Superfamily_domains:SSF55486											0,1						LOW	1	SNV	1		0,1	1										PASS		rs750739998	.												T	2	4	95	166014512	166014512	C	T	1	0	0	0	0	0	0	0	1	16391	912	32	3		3	TLL1	4	166014512	Silent	SNP	C	C3N-02379_TP	21279762	166014512	24200043	14	30730											
PCDHA9	0	.	GRCh38	chr5	140849857	140849857	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacgacaacgcaccagcGttcgcgcagtccgagtacac	11	5	11	14	6	0	1	0	1	0	0	2	3	1	1	2	0	4	4	2	0	3	2	rs781928576		C3N-02379_TP	C3N-02379_NB	G	G																c.1362G>A	p.=	p.A454A	ENST00000532602	1/4	541	448	93	570	570	0	strelka-varscan-mutect	PCDHA9,synonymous_variant,p.=,ENST00000378122,NM_014005.4;PCDHA9,synonymous_variant,p.=,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2;PCDHA4,intron_variant,,ENST00000512229,;PCDHA5,intron_variant,,ENST00000529619,;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;AC005609.19,upstream_gene_variant,,ENST00000623320,;	A	ENST00000532602	Transcript	synonymous_variant	2395/6293	1362/2853	454/950	A	gcG/gcA	rs781928576,COSM1433949,COSM1433950	1		1	PCDHA9	HGNC	HGNC:8675	protein_coding	YES	CCDS54920.1	ENSP00000436042	Q9Y5H5		UPI00001273D1	NM_031857.1			1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs781928576	.												A	2	1	95	140849857	140849857	G	A	1	0	0	0	0	0	0	0	1	11618	1132	40	1		1	PCDHA9	5	140849857	Silent	SNP	G	C3N-02379_TP		140849857	40688402	15	30731											
PCDHB14	0	.	GRCh38	chr5	141225295	141225295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcggtggacggcgactcggGccagaacgcctggctgtcgt	5	6	18	12	6	0	1	0	0	0	1	2	3	0	2	2	6	1	1	2	6	1	0	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.1790G>A	p.Gly597Asp	p.G597D	ENST00000239449	1/1	196	157	39	149	149	0	strelka-varscan-mutect	PCDHB14,missense_variant,p.Gly597Asp,ENST00000239449,NM_018934.3;PCDHB14,missense_variant,p.Gly444Asp,ENST00000624896,;CH17-140K24.8,intron_variant,,ENST00000624396,;CH17-140K24.2,intron_variant,,ENST00000624192,;	A	ENST00000239449	Transcript	missense_variant	2364/4828	1790/2397	597/798	G/D	gGc/gAc		1		1	PCDHB14	HGNC	HGNC:8685	protein_coding	YES	CCDS4256.1	ENSP00000239449	Q9Y5E9		UPI00001273E7	NM_018934.3	deleterious_low_confidence(0)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												A	3	1	95	141225295	141225295	G	A	1	0	0	0	0	1	0	0	0	11626	1203	42	3		3	PCDHB14	5	141225295	Missense_Mutation	SNP	G	C3N-02379_TP	375438	141225295	40312964	16	30732											
PCDHGA3	0	.	GRCh38	chr5	141345204	141345204	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttttgtcctgggaaatctgCcatttaagttagaaaaatca	13	15	7	6	0	2	1	1	0	1	1	3	2	3	2	2	1	1	1	2	1	5	5	novel		C3N-02379_TP	C3N-02379_NB	C	C																c.1171C>G	p.Pro391Ala	p.P391A	ENST00000253812	1/4	205	152	53	253	253	0	strelka-varscan-mutect	PCDHGA3,missense_variant,p.Pro391Ala,ENST00000253812,NM_018916.3;PCDHGA3,missense_variant,p.Pro391Ala,ENST00000619750,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA2,downstream_gene_variant,,ENST00000528330,NM_032009.2;PCDHGB1,upstream_gene_variant,,ENST00000611598,NM_032095.1;AC005618.8,downstream_gene_variant,,ENST00000625053,;PCDHGA3,3_prime_UTR_variant,,ENST00000612467,;	G	ENST00000253812	Transcript	missense_variant	1337/4771	1171/2799	391/932	P/A	Cca/Gca		1		1	PCDHGA3	HGNC	HGNC:8701	protein_coding	YES	CCDS47290.1	ENSP00000253812	Q9Y5H0		UPI0000161C1A	NM_018916.3	deleterious_low_confidence(0)		1/4		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF75,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs1490866629	.												G	3	3	95	141345204	141345204	C	G	1	0	0	0	0	1	0	0	0	11642	739	26	4		4	PCDHGA3	5	141345204	Missense_Mutation	SNP	C	C3N-02379_TP	119909	141345204	40193055	17	30733											
KIF4B	0	.	GRCh38	chr5	155013923	155013923	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcgccctctggtccccAaagagattagcgagggctgc	7	9	13	12	2	1	1	0	0	1	1	3	3	2	1	3	2	2	2	3	2	2	2	novel		C3N-02379_TP	C3N-02379_NB	A	A																c.64A>G	p.Lys22Glu	p.K22E	ENST00000435029	1/1	270	232	38	280	280	0	strelka-varscan-mutect	KIF4B,missense_variant,p.Lys22Glu,ENST00000435029,NM_001099293.1;	G	ENST00000435029	Transcript	missense_variant	169/4378	64/3705	22/1234	K/E	Aaa/Gaa		1		1	KIF4B	HGNC	HGNC:6322	protein_coding	YES	CCDS47324.1	ENSP00000387875	Q2VIQ3		UPI000013D5DB	NM_001099293.1	deleterious(0)		1/1		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF392,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV				1										PASS		.	.												G	3	3	95	155013923	155013923	A	G	1	0	0	0	0	1	0	0	0	8169	131	5	5		5	KIF4B	5	155013923	Missense_Mutation	SNP	A	C3N-02379_TP	13668719	155013923	26524336	18	30734											
SQSTM1	0	.	GRCh38	chr5	179836451	179836454	+	Frame_Shift_Del	DEL	TGAT	TGAT	-																															ggcagaggctgacccgcggcTgattgagtccctctcccaga																								novel		C3N-02379_TP	C3N-02379_NB	TGAT	TGAT																c.1184_1187delTTGA	p.Ile395SerfsTer67	p.I395Sfs*67	ENST00000389805	8/8	363	328	35	383	383	0	sindel-varindel-pindel	SQSTM1,frameshift_variant,p.Ile395SerfsTer67,ENST00000389805,NM_003900.4;SQSTM1,frameshift_variant,p.Ile311SerfsTer67,ENST00000360718,NM_001142298.1,NM_001142299.1;SQSTM1,intron_variant,,ENST00000510187,;C5orf45,downstream_gene_variant,,ENST00000518219,;C5orf45,downstream_gene_variant,,ENST00000518235,;C5orf45,downstream_gene_variant,,ENST00000292586,NM_016175.3;C5orf45,downstream_gene_variant,,ENST00000523084,;C5orf45,downstream_gene_variant,,ENST00000376931,NM_001017987.2;C5orf45,downstream_gene_variant,,ENST00000520698,;C5orf45,downstream_gene_variant,,ENST00000610475,;C5orf45,downstream_gene_variant,,ENST00000521333,;C5orf45,downstream_gene_variant,,ENST00000523267,;C5orf45,3_prime_UTR_variant,,ENST00000522663,;C5orf45,downstream_gene_variant,,ENST00000520150,;C5orf45,downstream_gene_variant,,ENST00000521299,;SQSTM1,downstream_gene_variant,,ENST00000466342,;C5orf45,downstream_gene_variant,,ENST00000521675,;C5orf45,downstream_gene_variant,,ENST00000520900,;C5orf45,downstream_gene_variant,,ENST00000519208,;C5orf45,downstream_gene_variant,,ENST00000523737,;C5orf45,downstream_gene_variant,,ENST00000518950,;C5orf45,downstream_gene_variant,,ENST00000520995,;	-	ENST00000389805	Transcript	frameshift_variant	1359-1362/2986	1181-1184/1323	394-395/440	LI/X	cTGATt/ct		1		1	SQSTM1	HGNC	HGNC:11280	protein_coding	YES	CCDS34317.1	ENSP00000374455	Q13501		UPI0000071099	NM_003900.4			8/8		PROSITE_profiles:PS50030,hmmpanther:PTHR15090,Pfam_domain:PF16577,Gene3D:1.10.8.10,SMART_domains:SM00165,Superfamily_domains:SSF46934																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	95	179836451	179836451	TGAT	-	1	0	1	0	1	0	0	0	0	15489	1580	55	0		0	SQSTM1	5	179836451	Frame_Shift_Del	DEL	TGAT	C3N-02379_TP	24822528	179836451	1701808	19	30735											
TTK	0	.	GRCh38	chr6	80007958	80007958	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacagtcaagcaattgaaGcgcttcccccagataaatat	14	10	7	10	1	1	2	1	1	0	1	2	2	2	2	2	0	3	3	2	0	7	5			C3N-02379_TP	C3N-02379_NB	G	G																c.289G>C	p.Ala97Pro	p.A97P	ENST00000369798	3/22	240	200	40	286	286	0	strelka-varscan-mutect	TTK,missense_variant,p.Ala97Pro,ENST00000509894,;TTK,missense_variant,p.Ala97Pro,ENST00000230510,NM_001166691.1;TTK,missense_variant,p.Ala97Pro,ENST00000369798,NM_003318.4;TTK,missense_variant,p.Ala97Pro,ENST00000504040,;TTK,missense_variant,p.Ala97Pro,ENST00000511260,;TTK,missense_variant,p.Ala97Pro,ENST00000502580,;TTK,downstream_gene_variant,,ENST00000627129,;TTK,3_prime_UTR_variant,,ENST00000509313,;TTK,non_coding_transcript_exon_variant,,ENST00000430061,;	C	ENST00000369798	Transcript	missense_variant	400/3010	289/2574	97/857	A/P	Gcg/Ccg	COSM4953596,COSM4953597	1		1	TTK	HGNC	HGNC:12401	protein_coding	YES	CCDS4993.1	ENSP00000358813	P33981		UPI0000073C7B	NM_003318.4	deleterious(0.03)		3/22		hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF21,Gene3D:1.25.40.10,Superfamily_domains:SSF48452											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	95	80007958	80007958	G	C	1	0	0	0	0	1	0	0	0	17232	971	34	4		4	TTK	6	80007958	Missense_Mutation	SNP	G	C3N-02379_TP		80007958	90798021	20	30736											
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcacagattttgggcTggccaaactgctgggtgcgg	9	9	14	9	1	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	2	2	rs121434568		C3N-02379_TP	C3N-02379_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	1019	476	543	482	482	0	strelka-varscan-mutect	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		rs121434568	.												G	3	3	95	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3N-02379_TP		55191822	104154151	21	30737											
MTUS1	0	.	GRCh38	chr8	17754176	17754178	+	In_Frame_Del	DEL	TGA	TGA	-																															gtttgttgtcttgaattcacTgatgagggtgatgaggcact																								novel		C3N-02379_TP	C3N-02379_NB	TGA	TGA																c.1630_1632delTCA	p.Ser544del	p.S544del	ENST00000262102	2/15	225	197	28	344	344	0	sindel-varindel-pindel	MTUS1,inframe_deletion,p.Ser544del,ENST00000381869,NM_001001925.2;MTUS1,inframe_deletion,p.Ser544del,ENST00000262102,NM_001001924.2;MTUS1,inframe_deletion,p.Ser544del,ENST00000519263,;MTUS1,downstream_gene_variant,,ENST00000518755,;MTUS1,downstream_gene_variant,,ENST00000518891,;MTUS1,inframe_deletion,p.Ser279del,ENST00000520196,;MTUS1,non_coding_transcript_exon_variant,,ENST00000523718,;	-	ENST00000262102	Transcript	inframe_deletion	1855-1857/6160	1630-1632/3813	544/1270	S/-	TCA/-		1		-1	MTUS1	HGNC	HGNC:29789	protein_coding	YES	CCDS43717.1	ENSP00000262102	Q9ULD2		UPI000003FF3C	NM_001001924.2			2/15		hmmpanther:PTHR24200,hmmpanther:PTHR24200:SF7																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	95	17754176	17754176	TGA	-	1	0	1	0	1	0	0	0	0	9963	1567	55	0		0	MTUS1	8	17754176	In_Frame_Del	DEL	TGA	C3N-02379_TP		17754176	127384460	22	30738											
TCEA1	0	.	GRCh38	chr8	53999921	53999921	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatcacaacatcataaataTatgtaagggaagatcaatga	21	9	6	5	0	3	2	3	1	0	1	3	3	3	3	0	1	1	1	0	1	9	4	rs779400625		C3N-02379_TP	C3N-02379_NB	T	T																c.256A>C	p.Ile86Leu	p.I86L	ENST00000518784	3/3	106	69	37	103	103	0	strelka-varscan-mutect	TCEA1,missense_variant,p.Ile86Leu,ENST00000518784,;TCEA1,intron_variant,,ENST00000521604,NM_006756.3;TCEA1,intron_variant,,ENST00000396401,NM_201437.2;TCEA1,intron_variant,,ENST00000522635,;TCEA1,intron_variant,,ENST00000520534,;TCEA1,intron_variant,,ENST00000521086,;TCEA1,intron_variant,,ENST00000522397,;TCEA1,intron_variant,,ENST00000521836,;TCEA1,intron_variant,,ENST00000517351,;TCEA1,intron_variant,,ENST00000518310,;TCEA1,downstream_gene_variant,,ENST00000519704,;	G	ENST00000518784	Transcript	missense_variant	290/586	256/273	86/90	I/L	Ata/Cta	rs779400625	1		-1	TCEA1	HGNC	HGNC:11612	protein_coding			ENSP00000429182		E5RJ93	UPI0001E8F2CF		tolerated_low_confidence(0.43)		3/3																			MODERATE		SNV	2			1										PASS		rs779400625	.												G	3	3	95	53999921	53999921	T	G	1	0	0	0	0	1	0	0	0	16074	1406	49	5		5	TCEA1	8	53999921	Missense_Mutation	SNP	T	C3N-02379_TP	36245745	53999921	91138715	23	30739											
WWP1	0	.	GRCh38	chr8	86431443	86431443	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagacagggtttactttgtGaatcataacacaaaaacaac	18	9	6	8	0	1	2	1	1	0	1	1	2	1	2	0	1	4	1	0	1	6	4	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.1425G>C	p.=	p.V475V	ENST00000517970	13/25	140	128	12	137	137	0	strelka-varscan-mutect	WWP1,synonymous_variant,p.=,ENST00000517970,NM_007013.3;WWP1,synonymous_variant,p.=,ENST00000265428,;WWP1,upstream_gene_variant,,ENST00000520453,;WWP1,non_coding_transcript_exon_variant,,ENST00000521079,;WWP1,downstream_gene_variant,,ENST00000520374,;WWP1,non_coding_transcript_exon_variant,,ENST00000518683,;WWP1,upstream_gene_variant,,ENST00000521997,;	C	ENST00000517970	Transcript	synonymous_variant	1732/4686	1425/2769	475/922	V	gtG/gtC		1		1	WWP1	HGNC	HGNC:17004	protein_coding	YES	CCDS6242.1	ENSP00000427793	Q9H0M0		UPI0000035537	NM_007013.3			13/25		PROSITE_profiles:PS50020,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF299,PROSITE_patterns:PS01159,Pfam_domain:PF00397,PIRSF_domain:PIRSF001569,Gene3D:2.20.70.10,SMART_domains:SM00456,Superfamily_domains:SSF51045																	LOW	1	SNV	1			1										PASS		rs1247553548	.												C	2	2	95	86431443	86431443	G	C	1	0	0	0	0	0	0	0	1	17973	1277	45	4		4	WWP1	8	86431443	Silent	SNP	G	C3N-02379_TP	32431522	86431443	58707193	24	30740											
MROH1	0	.	GRCh38	chr8	144260814	144260814	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcacctgcaggacccTcaggccaccgtggccagcgt	6	6	12	17	2	1	0	1	0	0	0	1	1	1	1	5	3	4	3	5	3	0	0	novel		C3N-02379_TP	C3N-02379_NB	T	T																c.4518T>C	p.=	p.P1506P	ENST00000528919	39/43	354	303	51	452	452	0	strelka-varscan-mutect	MROH1,synonymous_variant,p.=,ENST00000528919,NM_032450.2;MROH1,synonymous_variant,p.=,ENST00000326134,;MROH1,synonymous_variant,p.=,ENST00000534366,NM_001288814.1;MROH1,synonymous_variant,p.=,ENST00000544576,;BOP1,downstream_gene_variant,,ENST00000569669,NM_015201.4;BOP1,downstream_gene_variant,,ENST00000569403,;BOP1,downstream_gene_variant,,ENST00000616126,;BOP1,downstream_gene_variant,,ENST00000563210,;BOP1,downstream_gene_variant,,ENST00000568812,;BOP1,downstream_gene_variant,,ENST00000569160,;	C	ENST00000528919	Transcript	synonymous_variant	4639/5234	4518/4926	1506/1641	P	ccT/ccC		1		1	MROH1	HGNC	HGNC:26958	protein_coding	YES	CCDS47938.1	ENSP00000435565	Q8NDA8		UPI0001AE6FA6	NM_032450.2			39/43		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF13,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	95	144260814	144260814	T	C	1	0	0	0	0	0	0	0	1	9743	1538	54	5		5	MROH1	8	144260814	Silent	SNP	T	C3N-02379_TP	57829371	144260814	877822	25	30741											
GNAQ	0	.	GRCh38	chr9	77922179	77922179	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttattgtgctcatacttGtatgggatcttgagtgtgtc	7	17	10	7	0	2	1	1	1	1	0	3	2	2	2	1	1	2	2	1	1	3	6	rs200106152		C3N-02379_TP	C3N-02379_NB	G	G																c.303C>A	p.Tyr101Ter	p.Y101*	ENST00000286548	2/7	88	78	10	87	86	1	varscan-mutect	GNAQ,stop_gained,p.Tyr101Ter,ENST00000286548,NM_002072.4;GNAQ,stop_gained,p.Tyr72Ter,ENST00000411677,;	T	ENST00000286548	Transcript	stop_gained	526/6539	303/1080	101/359	Y/*	taC/taA	rs200106152,COSM3218458	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4			2/7		Gene3D:1.10.400.10,Pfam_domain:PF00503,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF184,SMART_domains:SM00275,Superfamily_domains:SSF47895											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs200106152	.												T	4	4	95	77922179	77922179	G	T	1	0	0	0	0	0	1	0	0	6389	1372	48	2		2	GNAQ	9	77922179	Nonsense_Mutation	SNP	G	C3N-02379_TP		77922179	60472538	26	30742											
MLLT10	0	.	GRCh38	chr10	21713913	21713913	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagcgctctctccctcagCtgtgtcatctgcagcccctg	5	10	10	16	1	4	0	2	0	2	0	6	1	5	1	3	1	4	3	3	1	0	0	novel		C3N-02379_TP	C3N-02379_NB	C	C																c.1841C>G	p.Ala614Gly	p.A614G	ENST00000307729	14/23	82	60	22	124	124	0	strelka-varscan-mutect	MLLT10,missense_variant,p.Ala630Gly,ENST00000377072,NM_004641.3;MLLT10,missense_variant,p.Ala614Gly,ENST00000307729,;MLLT10,missense_variant,p.Ala614Gly,ENST00000631589,;MLLT10,missense_variant,p.Ala614Gly,ENST00000377059,NM_001195626.1;MLLT10,missense_variant,p.Ala273Gly,ENST00000438473,;MLLT10,missense_variant,p.Ala177Gly,ENST00000420525,;	G	ENST00000307729	Transcript	missense_variant	2019/5032	1841/3207	614/1068	A/G	gCt/gGt		1		1	MLLT10	HGNC	HGNC:16063	protein_coding	YES	CCDS55708.1	ENSP00000307411	P55197		UPI00001F8FF7		tolerated(0.16)		14/23		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF93,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	95	21713913	21713913	C	G	1	0	0	0	0	1	0	0	0	9589	797	28	4		4	MLLT10	10	21713913	Missense_Mutation	SNP	C	C3N-02379_TP		21713913	112083509	27	30743											
RHOBTB1	0	.	GRCh38	chr10	60888417	60888417	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagttgtcccgtataaagAaactggagcagggtccgaaa	13	8	11	9	2	0	1	0	0	0	1	3	3	3	2	3	2	2	3	3	2	5	3	novel		C3N-02379_TP	C3N-02379_NB	A	A																c.1251T>G	p.Phe417Leu	p.F417L	ENST00000337910	6/11	178	142	36	164	164	0	strelka-varscan-mutect	RHOBTB1,missense_variant,p.Phe417Leu,ENST00000337910,NM_001242359.1,NM_014836.4;RHOBTB1,missense_variant,p.Phe417Leu,ENST00000357917,;RHOBTB1,non_coding_transcript_exon_variant,,ENST00000483488,;	C	ENST00000337910	Transcript	missense_variant	1589/4473	1251/2091	417/696	F/L	ttT/ttG		1		-1	RHOBTB1	HGNC	HGNC:18738	protein_coding	YES	CCDS7261.1	ENSP00000338671	O94844	A0A024QZL4	UPI000000D9B7	NM_001242359.1,NM_014836.4	deleterious(0.01)		6/11		PROSITE_profiles:PS50097,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	95	60888417	60888417	A	C	1	0	0	0	0	1	0	0	0	13506	243	9	5		5	RHOBTB1	10	60888417	Missense_Mutation	SNP	A	C3N-02379_TP	39174504	60888417	72909005	28	30744											
ADGRA1	0	.	GRCh38	chr10	133102819	133102819	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggacacagaccagccaccGtaccccaggcagcccctgct	9	4	9	19	1	0	1	0	0	0	1	0	2	0	2	7	2	4	3	7	2	1	1	rs368145789		C3N-02379_TP	C3N-02379_NB	G	G																c.378G>A	p.=	p.P126P	ENST00000392607	5/7	56	49	7	61	61	0	strelka-varscan-mutect	ADGRA1,synonymous_variant,p.=,ENST00000607359,;ADGRA1,synonymous_variant,p.=,ENST00000392607,NM_001083909.2;ADGRA1,synonymous_variant,p.=,ENST00000392606,NM_001291085.1;	A	ENST00000392607	Transcript	synonymous_variant	814/4283	378/1683	126/560	P	ccG/ccA	rs368145789	1		1	ADGRA1	HGNC	HGNC:13838	protein_coding	YES	CCDS41580.1	ENSP00000376384	Q86SQ6		UPI00003D41AD	NM_001083909.2			5/7		PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF261,Pfam_domain:PF00002																	LOW	1	SNV	5			1										PASS		rs368145789	.												A	2	1	95	133102819	133102819	G	A	1	0	0	0	0	0	0	0	1	352	1132	40	1		1	ADGRA1	10	133102819	Silent	SNP	G	C3N-02379_TP	72214402	133102819	694603	29	30745											
CDK2AP2	0	.	GRCh38	chr11	67507640	67507640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtcgttaaacagcggtctGaaaggagcgccggctcctgg	10	7	14	10	4	1	1	0	1	1	0	3	2	2	2	2	4	3	2	2	4	4	1	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.132C>G	p.Phe44Leu	p.F44L	ENST00000301488	2/4	461	437	24	148	148	0	strelka-varscan-mutect	CDK2AP2,missense_variant,p.Phe44Leu,ENST00000301488,NM_005851.4;CDK2AP2,missense_variant,p.Phe44Leu,ENST00000531506,;PITPNM1,upstream_gene_variant,,ENST00000356404,NM_004910.2;PITPNM1,upstream_gene_variant,,ENST00000436757,NM_001130848.1;PITPNM1,upstream_gene_variant,,ENST00000534749,;PITPNM1,upstream_gene_variant,,ENST00000528559,;PITPNM1,upstream_gene_variant,,ENST00000533391,;PITPNM1,upstream_gene_variant,,ENST00000524901,;PITPNM1,upstream_gene_variant,,ENST00000532703,;PITPNM1,upstream_gene_variant,,ENST00000527527,;PITPNM1,upstream_gene_variant,,ENST00000527103,;CDK2AP2,3_prime_UTR_variant,,ENST00000531178,;CDK2AP2,non_coding_transcript_exon_variant,,ENST00000525402,;CDK2AP2,non_coding_transcript_exon_variant,,ENST00000526447,;	C	ENST00000301488	Transcript	missense_variant	681/1378	132/381	44/126	F/L	ttC/ttG		1		-1	CDK2AP2	HGNC	HGNC:30833	protein_coding	YES	CCDS8169.1	ENSP00000301488	O75956	Q6IAV4	UPI00001296A5	NM_005851.4	deleterious(0.01)		2/4		hmmpanther:PTHR22607,hmmpanther:PTHR22607:SF4,PIRSF_domain:PIRSF037709																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	95	67507640	67507640	G	C	1	0	0	0	0	1	0	0	0	2843	1281	45	4		4	CDK2AP2	11	67507640	Missense_Mutation	SNP	G	C3N-02379_TP		67507640	67578982	30	30746											
ANO6	0	.	GRCh38	chr12	45388265	45388265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcccgaccagaatacgaaGcacgatgtactcacgtagtg	14	6	10	11	4	1	1	1	0	0	1	1	4	1	1	2	0	4	3	2	0	6	3			C3N-02379_TP	C3N-02379_NB	G	G																c.1333G>C	p.Ala445Pro	p.A445P	ENST00000423947	12/21	449	378	71	466	466	0	strelka-varscan-mutect	ANO6,missense_variant,p.Ala424Pro,ENST00000320560,NM_001025356.2;ANO6,missense_variant,p.Ala406Pro,ENST00000441606,NM_001142678.1;ANO6,missense_variant,p.Ala445Pro,ENST00000423947,NM_001204803.1;ANO6,missense_variant,p.Ala424Pro,ENST00000425752,NM_001142679.1;ANO6,non_coding_transcript_exon_variant,,ENST00000426898,;	C	ENST00000423947	Transcript	missense_variant	1570/5504	1333/2796	445/931	A/P	Gca/Cca	COSM1289763,COSM1289764	1		1	ANO6	HGNC	HGNC:25240	protein_coding	YES	CCDS55819.1	ENSP00000409126	Q4KMQ2		UPI000022935A	NM_001204803.1	deleterious(0)		12/21		hmmpanther:PTHR12308:SF21,hmmpanther:PTHR12308,Pfam_domain:PF04547											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												C	3	2	95	45388265	45388265	G	C	1	0	0	0	0	1	0	0	0	808	971	34	4		4	ANO6	12	45388265	Missense_Mutation	SNP	G	C3N-02379_TP		45388265	87887044	31	30747											
WNT10B	0	.	GRCh38	chr12	48968255	48968255	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgcccaggctgcaggcCgtggctactgcgtgcatgac	6	8	14	13	2	0	1	0	1	0	0	0	1	0	1	2	3	6	5	2	3	1	2	rs763263982		C3N-02379_TP	C3N-02379_NB	C	C																c.402G>A	p.=	p.T134T	ENST00000301061	4/5	495	454	41	503	503	0	strelka-varscan-mutect	WNT10B,synonymous_variant,p.=,ENST00000301061,NM_003394.3;WNT10B,synonymous_variant,p.=,ENST00000403957,;WNT10B,synonymous_variant,p.=,ENST00000407467,;WNT10B,downstream_gene_variant,,ENST00000413630,;WNT10B,downstream_gene_variant,,ENST00000420388,;WNT10B,downstream_gene_variant,,ENST00000475740,;	T	ENST00000301061	Transcript	synonymous_variant	751/2274	402/1170	134/389	T	acG/acA	rs763263982	1		-1	WNT10B	HGNC	HGNC:12775	protein_coding	YES	CCDS8775.1	ENSP00000301061	O00744		UPI0000138F21	NM_003394.3			4/5		hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF76,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01349																	LOW	1	SNV	1			1										PASS		rs763263982	.												T	2	4	95	48968255	48968255	C	T	1	0	0	0	0	0	0	0	1	17939	639	23	1		1	WNT10B	12	48968255	Silent	SNP	C	C3N-02379_TP	3579990	48968255	84307054	32	30748											
KMT2D	0	.	GRCh38	chr12	49054123	49054123	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatggaggcaccgagcctGgtgcagtgggagcagcgctg	7	5	20	9	2	0	0	0	0	0	0	0	4	0	3	2	5	4	4	2	5	0	0	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.528C>T	p.=	p.T176T	ENST00000301067	5/54	55	39	16	78	78	0	strelka-varscan-mutect	KMT2D,synonymous_variant,p.=,ENST00000301067,NM_003482.3;KMT2D,downstream_gene_variant,,ENST00000547610,;	A	ENST00000301067	Transcript	synonymous_variant	528/19419	528/16614	176/5537	T	acC/acT		1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3			5/54		Pfam_domain:PF13771,SMART_domains:SM00184,SMART_domains:SM00249																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	95	49054123	49054123	G	A	1	0	0	0	0	0	0	0	1	8298	1335	47	3		3	KMT2D	12	49054123	Silent	SNP	G	C3N-02379_TP	85868	49054123	84221186	33	30749											
C12orf73	0	.	GRCh38	chr12	103951591	103951592	+	Frame_Shift_Del	DEL	TT	TT	-																															tttcagtcccaaaagctccgTtttgagttctccacgctttg																								novel		C3N-02379_TP	C3N-02379_NB	TT	TT																c.147_148delAA	p.Lys49AsnfsTer22	p.K49Nfs*22	ENST00000378090	3/3	126	104	22	143	143	0	sindel-varindel-pindel	C12orf73,frameshift_variant,p.Lys49AsnfsTer22,ENST00000378090,NM_001135570.1;C12orf73,frameshift_variant,p.Lys49AsnfsTer22,ENST00000549478,;C12orf73,frameshift_variant,p.Lys49AsnfsTer22,ENST00000553183,;C12orf73,frameshift_variant,p.Lys49AsnfsTer22,ENST00000547945,;C12orf73,3_prime_UTR_variant,,ENST00000547975,;C12orf73,3_prime_UTR_variant,,ENST00000552940,;HSP90B1,intron_variant,,ENST00000550595,;HSP90B1,downstream_gene_variant,,ENST00000299767,NM_003299.2;HSP90B1,downstream_gene_variant,,ENST00000614327,;C12orf73,downstream_gene_variant,,ENST00000546540,;C12orf73,downstream_gene_variant,,ENST00000546819,;C12orf73,non_coding_transcript_exon_variant,,ENST00000543740,;C12orf73,3_prime_UTR_variant,,ENST00000549960,;C12orf73,3_prime_UTR_variant,,ENST00000552460,;HSP90B1,downstream_gene_variant,,ENST00000548462,;HSP90B1,downstream_gene_variant,,ENST00000552051,;	-	ENST00000378090	Transcript	frameshift_variant	353-354/1738	147-148/216	49-50/71	KT/NX	aaAAcg/aacg		1		-1	C12orf73	HGNC	HGNC:34450	protein_coding	YES	CCDS44964.1	ENSP00000367330	Q69YU5		UPI000015C160	NM_001135570.1			3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR28492,hmmpanther:PTHR28492:SF1																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	95	103951591	103951591	TT	-	1	0	1	0	1	0	0	0	0	1822	1725	60	0		0	C12orf73	12	103951591	Frame_Shift_Del	DEL	TT	C3N-02379_TP	54897468	103951591	29323718	34	30750											
PUS1	0	.	GRCh38	chr12	131941823	131941823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgagccgctggactgggCgcaggaggaaggaaaggtcg	10	4	19	8	3	0	1	0	1	0	0	1	5	0	5	1	6	1	3	1	6	2	0	rs142072030		C3N-02379_TP	C3N-02379_NB	C	C																c.1076C>T	p.Ala359Val	p.A359V	ENST00000376649	5/6	117	89	28	108	108	0	strelka-varscan-mutect	PUS1,missense_variant,p.Ala359Val,ENST00000376649,NM_025215.5;PUS1,missense_variant,p.Ala306Val,ENST00000542167,;PUS1,missense_variant,p.Ala331Val,ENST00000443358,NM_001002020.2,NM_001002019.2;PUS1,missense_variant,p.Ala331Val,ENST00000322060,;PUS1,intron_variant,,ENST00000535067,;PUS1,downstream_gene_variant,,ENST00000537484,;PUS1,downstream_gene_variant,,ENST00000538037,;PUS1,non_coding_transcript_exon_variant,,ENST00000543754,;	T	ENST00000376649	Transcript	missense_variant	1576/4094	1076/1284	359/427	A/V	gCg/gTg	rs142072030	1		1	PUS1	HGNC	HGNC:15508	protein_coding	YES	CCDS9275.2	ENSP00000365837	Q9Y606	E5KMT5	UPI000006FC81	NM_025215.5	tolerated(0.34)		5/6		hmmpanther:PTHR11142:SF4,hmmpanther:PTHR11142																	MODERATE	1	SNV	1			1										PASS		rs142072030	.												T	3	4	95	131941823	131941823	C	T	1	0	0	0	0	1	0	0	0	12988	768	27	1		1	PUS1	12	131941823	Missense_Mutation	SNP	C	C3N-02379_TP	27990232	131941823	1333486	35	30751											
MAP3K9	0	.	GRCh38	chr14	70809059	70809059	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaccgccgccgccgccTcctcctcctcctcctcctcc	1	7	6	27	4	0	0	0	0	0	0	7	0	7	0	13	1	0	0	13	1	0	0	rs201322413		C3N-02379_TP	C3N-02379_NB	T	T																c.113A>C	p.Glu38Ala	p.E38A	ENST00000555993	1/13	30	27	3	30	30	0	strelka-mutect	MAP3K9,missense_variant,p.Glu38Ala,ENST00000554752,NM_001284230.1;MAP3K9,missense_variant,p.Glu38Ala,ENST00000555993,NM_033141.3;MAP3K9,missense_variant,p.Glu38Ala,ENST00000381250,;RP6-65G23.3,upstream_gene_variant,,ENST00000557691,;RP6-65G23.3,upstream_gene_variant,,ENST00000554032,;	G	ENST00000555993	Transcript	missense_variant	476/4449	113/3357	38/1118	E/A	gAg/gCg	rs201322413,COSM1214457	1		-1	MAP3K9	HGNC	HGNC:6861	protein_coding	YES	CCDS32112.1	ENSP00000451263	P80192		UPI00001D7B5C	NM_033141.3	tolerated_low_confidence(0.47)		1/13		Low_complexity_(Seg):seg,PIRSF_domain:PIRSF000556											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs201322413	.												G	3	3	95	70809059	70809059	T	G	1	0	0	0	0	1	0	0	0	9181	1551	54	5		5	MAP3K9	14	70809059	Missense_Mutation	SNP	T	C3N-02379_TP		70809059	36234659	36	30752											
CT62	0	.	GRCh38	chr15	71111234	71111234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagagaaggagataacctGaagtgtggcctgaagactcc	15	6	13	7	0	0	5	0	2	0	3	1	8	1	5	3	2	1	0	3	2	5	1	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.328C>A	p.Gln110Lys	p.Q110K	ENST00000449977	4/4	344	261	83	414	414	0	strelka-varscan-mutect	CT62,missense_variant,p.Gln110Lys,ENST00000449977,NM_001102658.1;CT62,missense_variant,p.Gln66Lys,ENST00000564862,;CT62,3_prime_UTR_variant,,ENST00000566432,;THSD4,intron_variant,,ENST00000355327,NM_024817.2;CT62,downstream_gene_variant,,ENST00000567117,;THSD4,upstream_gene_variant,,ENST00000620694,;	T	ENST00000449977	Transcript	missense_variant	835/1825	328/411	110/136	Q/K	Cag/Aag		1		-1	CT62	HGNC	HGNC:27286	protein_coding	YES	CCDS45295.1	ENSP00000399356	P0C5K7		UPI000016137F	NM_001102658.1	tolerated_low_confidence(0.26)		4/4																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	95	71111234	71111234	G	T	1	0	0	0	0	1	0	0	0	3793	1299	45	2		2	CT62	15	71111234	Missense_Mutation	SNP	G	C3N-02379_TP		71111234	30879955	37	30753											
SYT17	0	.	GRCh38	chr16	19183542	19183542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggtcttgagtcaagaCgtcccagctctccactcatc	8	11	7	15	1	5	2	3	1	3	1	9	2	6	2	2	1	1	1	2	1	1	1	rs139600806		C3N-02379_TP	C3N-02379_NB	C	C																c.346C>A	p.Arg116Ser	p.R116S	ENST00000355377	5/8	126	85	41	136	136	0	strelka-varscan-mutect	SYT17,missense_variant,p.Arg55Ser,ENST00000562034,;SYT17,missense_variant,p.Arg116Ser,ENST00000355377,NM_016524.2;SYT17,missense_variant,p.Arg55Ser,ENST00000568115,;SYT17,missense_variant,p.Arg112Ser,ENST00000562711,NM_001308157.1;SYT17,missense_variant,p.Arg55Ser,ENST00000570264,;SYT17,missense_variant,p.Arg55Ser,ENST00000566261,;SYT17,non_coding_transcript_exon_variant,,ENST00000562274,;SYT17,upstream_gene_variant,,ENST00000565183,;	A	ENST00000355377	Transcript	missense_variant	744/3081	346/1425	116/474	R/S	Cgt/Agt	rs139600806	1		1	SYT17	HGNC	HGNC:24119	protein_coding	YES	CCDS10575.1	ENSP00000347538	Q9BSW7		UPI000007297F	NM_016524.2	deleterious(0.04)		5/8		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF251,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs139600806	.												A	3	1	95	19183542	19183542	C	A	1	0	0	0	0	1	0	0	0	15867	536	19	1		1	SYT17	16	19183542	Missense_Mutation	SNP	C	C3N-02379_TP		19183542	71154803	38	30754											
N4BP1	0	.	GRCh38	chr16	48561699	48561699	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattacatttccagccaatGtcttagcatcgtgtaaaatc	12	14	5	10	1	1	0	0	0	1	0	4	0	2	0	2	0	3	2	2	0	6	5	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.944C>G	p.Thr315Arg	p.T315R	ENST00000262384	2/7	348	328	20	383	383	0	strelka-varscan-mutect	N4BP1,missense_variant,p.Thr315Arg,ENST00000262384,NM_153029.3;N4BP1,downstream_gene_variant,,ENST00000564710,;RP11-44I10.3,intron_variant,,ENST00000563994,;N4BP1,non_coding_transcript_exon_variant,,ENST00000564124,;	C	ENST00000262384	Transcript	missense_variant	1181/7106	944/2691	315/896	T/R	aCa/aGa		1		-1	N4BP1	HGNC	HGNC:29850	protein_coding	YES	CCDS45479.1	ENSP00000262384	O75113		UPI000013D2A2	NM_153029.3	tolerated(0.38)		2/7		hmmpanther:PTHR12876:SF26,hmmpanther:PTHR12876																	MODERATE	1	SNV	1			1										PASS		rs1427249328	.												C	3	2	95	48561699	48561699	G	C	1	0	0	0	0	1	0	0	0	10113	1377	48	4		4	N4BP1	16	48561699	Missense_Mutation	SNP	G	C3N-02379_TP	29378157	48561699	41776646	39	30755											
RPGRIP1L	0	.	GRCh38	chr16	53619195	53619195	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagctatgatctcaatccgaAttttttctgatggctgttta	9	17	8	7	1	2	2	1	2	2	0	4	4	3	2	1	1	1	3	1	1	4	6	rs766943204		C3N-02379_TP	C3N-02379_NB	A	A																c.3446T>A	p.Ile1149Asn	p.I1149N	ENST00000379925	24/27	255	202	53	324	323	1	strelka-varscan-mutect	RPGRIP1L,missense_variant,p.Ile1069Asn,ENST00000262135,NM_001127897.1;RPGRIP1L,missense_variant,p.Ile1103Asn,ENST00000621565,NM_001308334.1;RPGRIP1L,missense_variant,p.Ile1149Asn,ENST00000379925,NM_015272.2;RPGRIP1L,missense_variant,p.Ile1115Asn,ENST00000563746,;RPGRIP1L,missense_variant,p.Ile1103Asn,ENST00000564374,;	T	ENST00000379925	Transcript	missense_variant	3497/5297	3446/3948	1149/1315	I/N	aTt/aAt	rs766943204,COSM4722571	1		-1	RPGRIP1L	HGNC	HGNC:29168	protein_coding	YES	CCDS32447.1	ENSP00000369257	Q68CZ1		UPI000047DAF2	NM_015272.2	deleterious(0)		24/27		hmmpanther:PTHR14240:SF4,hmmpanther:PTHR14240											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs766943204	.												T	3	4	95	53619195	53619195	A	T	1	0	0	0	0	1	0	0	0	13802	101	4	4		4	RPGRIP1L	16	53619195	Missense_Mutation	SNP	A	C3N-02379_TP	5057496	53619195	36719150	40	30756											
DPEP2	0	.	GRCh38	chr16	67990101	67990101	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtattactcccatggacaAagacaccatcacgacgccac	13	7	6	15	2	1	1	1	0	0	1	2	3	2	2	3	1	1	1	3	1	3	2	novel		C3N-02379_TP	C3N-02379_NB	A	A																c.940T>G	p.Leu314Val	p.L314V	ENST00000572888	7/10	139	119	20	155	154	1	strelka-varscan-mutect	DPEP2,missense_variant,p.Leu314Val,ENST00000572888,;DPEP2,missense_variant,p.Leu314Val,ENST00000393847,NM_022355.3;DPEP2,missense_variant,p.Leu106Val,ENST00000575510,;DUS2,intron_variant,,ENST00000571081,;DUS2,intron_variant,,ENST00000570709,;DPEP2,downstream_gene_variant,,ENST00000573808,;DPEP2,downstream_gene_variant,,ENST00000572624,;DUS2,upstream_gene_variant,,ENST00000575677,;DPEP2,downstream_gene_variant,,ENST00000574865,;DPEP2,3_prime_UTR_variant,,ENST00000575203,;DPEP2,downstream_gene_variant,,ENST00000268795,;DPEP2,downstream_gene_variant,,ENST00000574316,;	C	ENST00000572888	Transcript	missense_variant	1591/2112	940/1461	314/486	L/V	Ttg/Gtg		1		-1	DPEP2	HGNC	HGNC:23028	protein_coding	YES	CCDS10857.1	ENSP00000458977	Q9H4A9	A0A024R6Y5	UPI000007277C		deleterious(0.01)		7/10		Low_complexity_(Seg):seg,PROSITE_profiles:PS51365,hmmpanther:PTHR10443,hmmpanther:PTHR10443:SF9,Pfam_domain:PF01244,Gene3D:3.20.20.140,Superfamily_domains:SSF51556																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	95	67990101	67990101	A	C	1	0	0	0	0	1	0	0	0	4528	11	1	5		5	DPEP2	16	67990101	Missense_Mutation	SNP	A	C3N-02379_TP	14370906	67990101	22348244	41	30757											
MYBBP1A	0	.	GRCh38	chr17	4548172	4548172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcgctgctgcgcagtGaagggtgtcacggtggtcac	5	8	17	11	3	2	1	2	1	0	0	2	1	2	1	1	4	2	3	1	4	1	0	rs752366577		C3N-02379_TP	C3N-02379_NB	G	G																c.1695C>A	p.Phe565Leu	p.F565L	ENST00000381556	12/27	130	94	36	175	174	1	strelka-varscan-mutect	MYBBP1A,missense_variant,p.Phe565Leu,ENST00000254718,NM_014520.3;MYBBP1A,missense_variant,p.Phe565Leu,ENST00000381556,NM_001105538.1;MYBBP1A,missense_variant,p.Phe485Leu,ENST00000573116,;MYBBP1A,missense_variant,p.Phe127Leu,ENST00000573723,;MYBBP1A,upstream_gene_variant,,ENST00000572759,;MYBBP1A,non_coding_transcript_exon_variant,,ENST00000573175,;MYBBP1A,upstream_gene_variant,,ENST00000571368,;MYBBP1A,upstream_gene_variant,,ENST00000574547,;MYBBP1A,downstream_gene_variant,,ENST00000570986,;MYBBP1A,upstream_gene_variant,,ENST00000571354,;	T	ENST00000381556	Transcript	missense_variant	1757/4104	1695/3999	565/1332	F/L	ttC/ttA	rs752366577,COSM1302931,COSM4811984	1		-1	MYBBP1A	HGNC	HGNC:7546	protein_coding	YES	CCDS42238.1	ENSP00000370968	Q9BQG0		UPI0000551C8B	NM_001105538.1	tolerated(0.21)		12/27		hmmpanther:PTHR13213,hmmpanther:PTHR13213:SF2,Pfam_domain:PF04931,Superfamily_domains:SSF48371											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs752366577	.												T	3	4	95	4548172	4548172	G	T	1	0	0	0	0	1	0	0	0	10008	1281	45	2		2	MYBBP1A	17	4548172	Missense_Mutation	SNP	G	C3N-02379_TP		4548172	78709269	42	30758											
TP53	0	.	GRCh38	chr17	7674241	7674263	+	Frame_Shift_Del	DEL	GAACTGTTACACATGTAGTTGTA	GAACTGTTACACATGTAGTTGTA	-																															ggttcatgccgcccatgcagGaactgttacacatgtagttg																								novel		C3N-02379_TP	C3N-02379_NB	GAACTGTTACACATGTAGTTGTA	GAACTGTTACACATGTAGTTGTA																c.700_722delTACAACTACATGTGTAACAGTTC	p.Tyr234LeufsTer22	p.Y234Lfs*22	ENST00000269305	7/11	314	218	96	481	481	0	sindel-varindel-pindel	TP53,frameshift_variant,p.Tyr234LeufsTer22,ENST00000617185,NM_001126114.2;TP53,frameshift_variant,p.Tyr234LeufsTer22,ENST00000420246,;TP53,frameshift_variant,p.Tyr195LeufsTer22,ENST00000622645,NM_001276696.1;TP53,frameshift_variant,p.Tyr195LeufsTer22,ENST00000610292,NM_001126118.1;TP53,frameshift_variant,p.Tyr234LeufsTer22,ENST00000455263,NM_001126113.2;TP53,frameshift_variant,p.Tyr195LeufsTer22,ENST00000610538,NM_001276695.1;TP53,frameshift_variant,p.Tyr234LeufsTer22,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,frameshift_variant,p.Tyr195LeufsTer22,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,frameshift_variant,p.Tyr234LeufsTer22,ENST00000445888,;TP53,frameshift_variant,p.Tyr195LeufsTer22,ENST00000619485,;TP53,frameshift_variant,p.Tyr102LeufsTer22,ENST00000510385,NM_001126116.1;TP53,frameshift_variant,p.Tyr75LeufsTer22,ENST00000618944,NM_001276698.1;TP53,frameshift_variant,p.Tyr102LeufsTer22,ENST00000504290,NM_001126117.1;TP53,frameshift_variant,p.Tyr75LeufsTer22,ENST00000610623,NM_001276699.1;TP53,frameshift_variant,p.Tyr102LeufsTer22,ENST00000504937,NM_001126115.1;TP53,frameshift_variant,p.Tyr75LeufsTer22,ENST00000619186,NM_001276697.1;TP53,frameshift_variant,p.Tyr234LeufsTer22,ENST00000359597,;TP53,frameshift_variant,p.Tyr223LeufsTer22,ENST00000615910,;TP53,frameshift_variant,p.Tyr234LeufsTer95,ENST00000413465,;TP53,frameshift_variant,p.Tyr102LeufsTer22,ENST00000509690,;TP53,frameshift_variant,p.Tyr141LeufsTer?,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,frameshift_variant,p.Tyr195LeufsTer22,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	-	ENST00000269305	Transcript	frameshift_variant	890-912/2579	700-722/1182	234-241/393	YNYMCNSS/X	TACAACTACATGTGTAACAGTTCc/c		1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5			7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386,Prints_domain:PR00386																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	95	7674241	7674241	GAACTGTTACACATGTAGTTGTA	-	1	0	1	0	1	0	0	0	0	16859	1174	41	0		0	TP53	17	7674241	Frame_Shift_Del	DEL	GAACTGTTACACATGTAGTTGTA	C3N-02379_TP	3126069	7674241	75583200	43	30759											
KRT12	0	.	GRCh38	chr17	40862600	40862600	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgactgtgcttgtgatttgGagtctgtcacaaataaactt	10	16	9	6	0	2	2	1	2	1	0	2	3	2	3	0	1	2	1	0	1	3	5	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.1352C>G	p.Ser451Cys	p.S451C	ENST00000251643	7/8	436	406	30	436	436	0	strelka-varscan-mutect	KRT12,missense_variant,p.Ser451Cys,ENST00000251643,NM_000223.3;RP5-1110E20.1,intron_variant,,ENST00000579136,;	C	ENST00000251643	Transcript	missense_variant	1376/1867	1352/1485	451/494	S/C	tCc/tGc		1		-1	KRT12	HGNC	HGNC:6414	protein_coding	YES	CCDS11378.1	ENSP00000251643	Q99456		UPI000012DAE4	NM_000223.3	deleterious(0.04)		7/8		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF115																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	95	40862600	40862600	G	C	1	0	0	0	0	1	0	0	0	8331	1174	41	4		4	KRT12	17	40862600	Missense_Mutation	SNP	G	C3N-02379_TP	33188359	40862600	42394841	44	30760											
OTOP2	0	.	GRCh38	chr17	74925609	74925609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatggatgtcttcaagaccGgctactactccagtttcttt	8	15	7	11	1	4	1	2	0	2	1	5	2	5	2	2	2	2	2	2	2	3	5	rs767255149		C3N-02379_TP	C3N-02379_NB	G	G																c.367G>A	p.Gly123Ser	p.G123S	ENST00000331427	3/7	306	254	52	270	270	0	strelka-varscan-mutect	OTOP2,missense_variant,p.Gly123Ser,ENST00000331427,NM_178160.2;OTOP2,missense_variant,p.Gly123Ser,ENST00000580223,;USH1G,upstream_gene_variant,,ENST00000614341,NM_001282489.2,NM_173477.4;OTOP2,non_coding_transcript_exon_variant,,ENST00000584711,;USH1G,upstream_gene_variant,,ENST00000579243,;	A	ENST00000331427	Transcript	missense_variant	459/2147	367/1689	123/562	G/S	Ggc/Agc	rs767255149,COSM326048	1		1	OTOP2	HGNC	HGNC:19657	protein_coding	YES	CCDS11708.1	ENSP00000332528	Q7RTS6		UPI000018F613	NM_178160.2	deleterious(0.02)		3/7		hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF35,Pfam_domain:PF03189											0,1						MODERATE		SNV	5		0,1	1										PASS		rs767255149	.												A	3	1	95	74925609	74925609	G	A	1	0	0	0	0	1	0	0	0	11374	1116	39	1		1	OTOP2	17	74925609	Missense_Mutation	SNP	G	C3N-02379_TP	34063009	74925609	8331832	45	30761											
TBC1D16	0	.	GRCh38	chr17	79940971	79940971	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtagggacagctctccgagCcgggatggtggccggtgcac	6	6	17	12	4	1	0	0	0	1	0	2	3	1	2	3	5	3	3	3	5	1	1	novel		C3N-02379_TP	C3N-02379_NB	C	C																c.2192G>C	p.Gly731Ala	p.G731A	ENST00000310924	12/12	119	92	27	110	110	0	strelka-mutect	TBC1D16,missense_variant,p.Gly731Ala,ENST00000310924,NM_019020.3;TBC1D16,missense_variant,p.Gly356Ala,ENST00000576768,NM_001271844.1;TBC1D16,missense_variant,p.Gly369Ala,ENST00000340848,NM_001271845.1;TBC1D16,downstream_gene_variant,,ENST00000572862,NM_001271846.1;TBC1D16,downstream_gene_variant,,ENST00000570373,;	G	ENST00000310924	Transcript	missense_variant	2308/10936	2192/2304	731/767	G/A	gGc/gCc		1		-1	TBC1D16	HGNC	HGNC:28356	protein_coding	YES	CCDS11766.1	ENSP00000309794	Q8TBP0		UPI000006DDA6	NM_019020.3	tolerated(0.55)		12/12		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF285																	MODERATE	1	SNV	1			1										PASS		rs1011889144	.												G	3	3	95	79940971	79940971	C	G	1	0	0	0	0	1	0	0	0	16005	739	26	4		4	TBC1D16	17	79940971	Missense_Mutation	SNP	C	C3N-02379_TP	5015362	79940971	3316470	46	30762											
LAMA3	0	.	GRCh38	chr18	23842712	23842712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcagagcctgaagtggccGcaactgtgaaggttccagaa	11	8	12	10	1	1	4	1	2	1	2	3	4	2	4	3	2	2	2	3	2	4	1	rs771491240		C3N-02379_TP	C3N-02379_NB	G	G																c.3565G>A	p.Ala1189Thr	p.A1189T	ENST00000313654	29/75	637	556	81	684	683	1	strelka-varscan-mutect	LAMA3,missense_variant,p.Ala1189Thr,ENST00000313654,NM_198129.2;LAMA3,missense_variant,p.Ala1189Thr,ENST00000399516,NM_001127717.2;	A	ENST00000313654	Transcript	missense_variant	3806/10661	3565/10002	1189/3333	A/T	Gca/Aca	rs771491240,COSM3787494	1		1	LAMA3	HGNC	HGNC:6483	protein_coding	YES	CCDS42419.1	ENSP00000324532	Q16787		UPI000035154D	NM_198129.2	deleterious(0)		29/75													0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs771491240	.												A	3	1	95	23842712	23842712	G	A	1	0	0	0	0	1	0	0	0	8511	1087	38	1		1	LAMA3	18	23842712	Missense_Mutation	SNP	G	C3N-02379_TP		23842712	56530573	47	30763											
TRAPPC8	0	.	GRCh38	chr18	31870431	31870431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaggatgaaacttccaaaGcaatgacaaatcagtcaaca	18	9	6	8	0	2	2	2	2	0	0	3	3	3	3	1	1	3	1	1	1	6	3	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.2329C>A	p.Leu777Ile	p.L777I	ENST00000283351	16/29	181	170	11	143	143	0	strelka-varscan-mutect	TRAPPC8,missense_variant,p.Leu777Ile,ENST00000283351,NM_014939.3;TRAPPC8,missense_variant,p.Leu723Ile,ENST00000582539,;TRAPPC8,downstream_gene_variant,,ENST00000582513,;TRAPPC8,missense_variant,p.Leu777Ile,ENST00000580104,;TRAPPC8,non_coding_transcript_exon_variant,,ENST00000578252,;TRAPPC8,downstream_gene_variant,,ENST00000577474,;	T	ENST00000283351	Transcript	missense_variant	2665/6226	2329/4308	777/1435	L/I	Ctt/Att		1		-1	TRAPPC8	HGNC	HGNC:29169	protein_coding	YES	CCDS11901.1	ENSP00000283351	Q9Y2L5		UPI0000052E22	NM_014939.3	tolerated(0.09)		16/29		Low_complexity_(Seg):seg,hmmpanther:PTHR12975:SF6,hmmpanther:PTHR12975																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	95	31870431	31870431	G	T	1	0	0	0	0	1	0	0	0	16953	971	34	2		2	TRAPPC8	18	31870431	Missense_Mutation	SNP	G	C3N-02379_TP	8027719	31870431	48502854	48	30764											
DNAJB1	0	.	GRCh38	chr19	14517015	14517029	+	In_Frame_Del	DEL	GCTACCGCCACTGGG	GCTACCGCCACTGGG	-																															gtaccattggcaccaccgccGctaccgccactggggccact																								novel		C3N-02379_TP	C3N-02379_NB	GCTACCGCCACTGGG	GCTACCGCCACTGGG																c.229_243delCCCAGTGGCGGTAGC	p.Pro77_Ser81del	p.P77_S81del	ENST00000254322	2/3	67	58	9	102	102	0	sindel-varindel-pindel	DNAJB1,inframe_deletion,p.Pro77_Ser81del,ENST00000254322,NM_006145.2;DNAJB1,inframe_deletion,p.Pro10_Ser14del,ENST00000595139,;DNAJB1,5_prime_UTR_variant,,ENST00000396969,NM_001300914.1;DNAJB1,5_prime_UTR_variant,,ENST00000594099,;DNAJB1,5_prime_UTR_variant,,ENST00000598235,;DNAJB1,5_prime_UTR_variant,,ENST00000595992,;DNAJB1,5_prime_UTR_variant,,ENST00000596853,;DNAJB1,5_prime_UTR_variant,,ENST00000596075,;DNAJB1,5_prime_UTR_variant,,ENST00000601533,;DNAJB1,5_prime_UTR_variant,,ENST00000598692,;TECR,upstream_gene_variant,,ENST00000600076,;	-	ENST00000254322	Transcript	inframe_deletion	300-314/2264	229-243/1023	77-81/340	PSGGS/-	CCCAGTGGCGGTAGC/-		1		-1	DNAJB1	HGNC	HGNC:5270	protein_coding	YES	CCDS12312.1	ENSP00000254322	P25685	Q6FHS4	UPI0000000C3A	NM_006145.2			2/3		Gene3D:1.10.287.110,Prints_domain:PR00625,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF306,Low_complexity_(Seg):seg,Superfamily_domains:SSF46565																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	95	14517015	14517015	GCTACCGCCACTGGG	-	1	0	1	0	1	0	0	0	0	4430	1078	38	0		0	DNAJB1	19	14517015	In_Frame_Del	DEL	GCTACCGCCACTGGG	C3N-02379_TP		14517015	44100601	49	30765											
ADGRE2	0	.	GRCh38	chr19	14767033	14767033	+	Silent	SNP	C	C	G																															aagccaggcaggcactggcaCgtgtagctgccgagggtgtt																								rs10420288		C3N-02379_TP	C3N-02379_NB	C	C																c.432G>C	p.=	p.T144T	ENST00000315576	6/21	69	58	11	120	119	1	varscan-mutect	ADGRE2,synonymous_variant,p.=,ENST00000315576,NM_013447.3;ADGRE2,synonymous_variant,p.=,ENST00000601345,;ADGRE2,synonymous_variant,p.=,ENST00000596991,;ADGRE2,synonymous_variant,p.=,ENST00000392965,NM_001271052.1;ADGRE2,synonymous_variant,p.=,ENST00000594294,;ADGRE2,intron_variant,,ENST00000594076,;ADGRE2,intron_variant,,ENST00000595839,;ADGRE2,downstream_gene_variant,,ENST00000599423,;ADGRE2,downstream_gene_variant,,ENST00000601619,;ADGRE2,synonymous_variant,p.=,ENST00000595208,;ADGRE2,synonymous_variant,p.=,ENST00000392962,;ADGRE2,non_coding_transcript_exon_variant,,ENST00000360222,;ADGRE2,downstream_gene_variant,,ENST00000598500,;	G	ENST00000315576	Transcript	synonymous_variant	884/6767	432/2472	144/823	T	acG/acC	rs10420288	1		-1	ADGRE2	HGNC	HGNC:3337	protein_coding	YES	CCDS32935.1	ENSP00000319883	Q9UHX3		UPI000016393A	NM_013447.3			6/21		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF286,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	LOW	1	SNV	1			1										PASS		rs10420288	.												G	2	3	95	14767033	14767033	C	G	1	0	0	0	0	0	0	0	1	360	523	19	4		4	ADGRE2	19	14767033	Silent	SNP	C	C3N-02379_TP	250018	14767033	43850583	50	30766	632	2									
ADGRE2	0	.	GRCh38	chr19	14767036	14767036	+	Silent	SNP	G	G	A																															ccaggcaggcactggcacgtGtagctgccgagggtgttgac																								rs10418767		C3N-02379_TP	C3N-02379_NB	G	G																c.429C>T	p.=	p.Y143Y	ENST00000315576	6/21	77	62	15	123	121	2	varscan-mutect	ADGRE2,synonymous_variant,p.=,ENST00000315576,NM_013447.3;ADGRE2,synonymous_variant,p.=,ENST00000601345,;ADGRE2,synonymous_variant,p.=,ENST00000596991,;ADGRE2,synonymous_variant,p.=,ENST00000392965,NM_001271052.1;ADGRE2,synonymous_variant,p.=,ENST00000594294,;ADGRE2,intron_variant,,ENST00000594076,;ADGRE2,intron_variant,,ENST00000595839,;ADGRE2,downstream_gene_variant,,ENST00000599423,;ADGRE2,downstream_gene_variant,,ENST00000601619,;ADGRE2,synonymous_variant,p.=,ENST00000595208,;ADGRE2,synonymous_variant,p.=,ENST00000392962,;ADGRE2,non_coding_transcript_exon_variant,,ENST00000360222,;ADGRE2,downstream_gene_variant,,ENST00000598500,;	A	ENST00000315576	Transcript	synonymous_variant	881/6767	429/2472	143/823	Y	taC/taT	rs10418767	1		-1	ADGRE2	HGNC	HGNC:3337	protein_coding	YES	CCDS32935.1	ENSP00000319883	Q9UHX3		UPI000016393A	NM_013447.3			6/21		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF286,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	LOW	1	SNV	1			1										PASS		rs10418767	.												A	2	1	95	14767036	14767036	G	A	1	0	0	0	0	0	0	0	1	360	1372	48	3		3	ADGRE2	19	14767036	Silent	SNP	G	C3N-02379_TP	3	14767036	43850580	51	30767	632	2									
CD22	0	.	GRCh38	chr19	35338398	35338398	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacattcttggtactggaCagaggggcccgggagctgag	11	7	15	8	1	1	2	0	1	1	1	1	4	1	4	1	5	3	2	1	5	3	3	novel		C3N-02379_TP	C3N-02379_NB	C	C																c.1216C>T	p.Gln406Ter	p.Q406*	ENST00000085219	6/14	91	67	24	113	112	1	strelka-varscan-mutect	CD22,stop_gained,p.Gln406Ter,ENST00000085219,NM_001771.3;CD22,stop_gained,p.Gln406Ter,ENST00000544992,NM_001185100.1;CD22,stop_gained,p.Gln234Ter,ENST00000419549,NM_001278417.1;CD22,intron_variant,,ENST00000536635,NM_001185099.1;CD22,intron_variant,,ENST00000341773,NM_001185101.1;CD22,intron_variant,,ENST00000594250,;CD22,intron_variant,,ENST00000599811,;CD22,intron_variant,,ENST00000600424,;CD22,downstream_gene_variant,,ENST00000593867,;CD22,downstream_gene_variant,,ENST00000613136,;CD22,downstream_gene_variant,,ENST00000600131,;CD22,downstream_gene_variant,,ENST00000597916,;CD22,non_coding_transcript_exon_variant,,ENST00000601329,;CD22,intron_variant,,ENST00000598815,;CD22,intron_variant,,ENST00000597433,;CD22,downstream_gene_variant,,ENST00000598138,;CD22,downstream_gene_variant,,ENST00000598028,;CD22,downstream_gene_variant,,ENST00000601414,;CD22,downstream_gene_variant,,ENST00000601732,;CD22,downstream_gene_variant,,ENST00000600905,;CD22,stop_gained,p.Gln49Ter,ENST00000594125,;CD22,3_prime_UTR_variant,,ENST00000601769,;CD22,intron_variant,,ENST00000600655,;CD22,downstream_gene_variant,,ENST00000596492,;CD22,downstream_gene_variant,,ENST00000594349,;CD22,upstream_gene_variant,,ENST00000602123,;CD22,downstream_gene_variant,,ENST00000599717,;	T	ENST00000085219	Transcript	stop_gained	1282/3268	1216/2544	406/847	Q/*	Cag/Tag		1		1	CD22	HGNC	HGNC:1643	protein_coding	YES	CCDS12457.1	ENSP00000085219	P20273	Q0EAF5	UPI000012733D	NM_001771.3			6/14		PROSITE_profiles:PS50835,hmmpanther:PTHR12035:SF60,hmmpanther:PTHR12035,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	95	35338398	35338398	C	T	1	0	0	0	0	0	1	0	0	2688	479	17	3		3	CD22	19	35338398	Nonsense_Mutation	SNP	C	C3N-02379_TP	20571362	35338398	23279218	52	30768											
ZNF383	0	.	GRCh38	chr19	37235658	37235658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgatgttggagaactacgGcaatctggtttcaatgggta	10	13	13	5	1	2	2	1	1	1	1	2	3	2	2	0	4	2	4	0	4	5	4	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.119G>A	p.Gly40Asp	p.G40D	ENST00000352998	3/5	89	84	5	110	110	0	varscan-mutect	ZNF383,missense_variant,p.Gly40Asp,ENST00000352998,NM_152604.1;ZNF383,missense_variant,p.Gly40Asp,ENST00000589413,;ZNF383,missense_variant,p.Gly40Asp,ENST00000590503,;ZNF383,missense_variant,p.Gly40Asp,ENST00000588371,;ZNF383,missense_variant,p.Gly40Asp,ENST00000588250,;ZNF383,non_coding_transcript_exon_variant,,ENST00000586068,;	A	ENST00000352998	Transcript	missense_variant	377/6760	119/1428	40/475	G/D	gGc/gAc		1		1	ZNF383	HGNC	HGNC:18609	protein_coding	YES	CCDS12501.1	ENSP00000340132	Q8NA42		UPI00000717CC	NM_152604.1	deleterious(0.03)		3/5		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,SMART_domains:SM00349																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	95	37235658	37235658	G	A	1	0	0	0	0	1	0	0	0	18446	1203	42	3		3	ZNF383	19	37235658	Missense_Mutation	SNP	G	C3N-02379_TP	1897260	37235658	21381958	53	30769											
AKT2	0	.	GRCh38	chr19	40235978	40235978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcggatctcttccatgaGgatgagctcgaagaggcgct	10	8	14	9	3	1	3	0	2	1	1	4	7	2	5	1	3	2	2	1	3	2	1	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.1087C>A	p.Leu363Ile	p.L363I	ENST00000392038	11/14	358	329	29	329	329	0	strelka-mutect	AKT2,missense_variant,p.Leu363Ile,ENST00000392038,NM_001626.5;AKT2,missense_variant,p.Leu320Ile,ENST00000424901,;AKT2,missense_variant,p.Leu301Ile,ENST00000579047,NM_001243027.2,NM_001243028.2;AKT2,missense_variant,p.Leu320Ile,ENST00000311278,;AKT2,missense_variant,p.Leu219Ile,ENST00000578615,;AKT2,missense_variant,p.Leu32Ile,ENST00000476247,;AKT2,upstream_gene_variant,,ENST00000497948,;AKT2,downstream_gene_variant,,ENST00000578310,;AKT2,non_coding_transcript_exon_variant,,ENST00000391845,;AKT2,downstream_gene_variant,,ENST00000480878,;AKT2,downstream_gene_variant,,ENST00000486647,;AKT2,missense_variant,p.Leu19Ile,ENST00000489375,;AKT2,3_prime_UTR_variant,,ENST00000391844,;AKT2,3_prime_UTR_variant,,ENST00000584288,;AKT2,non_coding_transcript_exon_variant,,ENST00000483166,;AKT2,non_coding_transcript_exon_variant,,ENST00000476266,;AKT2,non_coding_transcript_exon_variant,,ENST00000496089,;AKT2,downstream_gene_variant,,ENST00000578975,;AKT2,downstream_gene_variant,,ENST00000537834,;AKT2,downstream_gene_variant,,ENST00000492463,;AKT2,downstream_gene_variant,,ENST00000580878,;AKT2,downstream_gene_variant,,ENST00000491778,;AKT2,downstream_gene_variant,,ENST00000579345,;AKT2,downstream_gene_variant,,ENST00000601166,;AKT2,downstream_gene_variant,,ENST00000578282,;	T	ENST00000392038	Transcript	missense_variant	1386/5300	1087/1446	363/481	L/I	Ctc/Atc		1		-1	AKT2	HGNC	HGNC:392	protein_coding	YES	CCDS12552.1	ENSP00000375892	P31751		UPI0000049EDB	NM_001626.5	deleterious(0.05)		11/14		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF176,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	95	40235978	40235978	G	T	1	0	0	0	0	1	0	0	0	563	1000	35	2		2	AKT2	19	40235978	Missense_Mutation	SNP	G	C3N-02379_TP	3000320	40235978	18381638	54	30770											
CYP24A1	0	.	GRCh38	chr20	54162811	54162811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtcacaaaggaaatctGcactaggctgctgagaatac	16	8	9	8	0	2	1	1	1	1	1	2	3	2	2	0	2	3	3	0	2	6	2	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.896C>T	p.Ala299Val	p.A299V	ENST00000216862	7/12	418	280	138	500	500	0	strelka-varscan-mutect	CYP24A1,missense_variant,p.Ala299Val,ENST00000216862,NM_000782.4;CYP24A1,missense_variant,p.Ala299Val,ENST00000395955,NM_001128915.1;CYP24A1,missense_variant,p.Ala157Val,ENST00000395954,;CYP24A1,non_coding_transcript_exon_variant,,ENST00000487593,;	A	ENST00000216862	Transcript	missense_variant	1290/3262	896/1545	299/514	A/V	gCa/gTa		1		-1	CYP24A1	HGNC	HGNC:2602	protein_coding	YES	CCDS33491.1	ENSP00000216862	Q07973		UPI00001281B8	NM_000782.4	tolerated(0.12)		7/12		hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF5,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	95	54162811	54162811	G	A	1	0	0	0	0	1	0	0	0	3957	1319	46	3		3	CYP24A1	20	54162811	Missense_Mutation	SNP	G	C3N-02379_TP		54162811	10281356	55	30771											
NCAM2	0	.	GRCh38	chr21	21410456	21410456	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtacaggaagaaagatgataTtagaggtaagtccacatgta	17	9	11	4	0	0	4	0	1	0	3	1	5	1	5	1	2	1	3	1	2	7	5	novel		C3N-02379_TP	C3N-02379_NB	T	T																c.1378T>C	p.=	p.L460L	ENST00000400546	10/18	58	52	6	51	50	1	strelka-varscan-mutect	NCAM2,synonymous_variant,p.=,ENST00000400546,NM_004540.3;NCAM2,synonymous_variant,p.=,ENST00000284894,;	C	ENST00000400546	Transcript	synonymous_variant	1627/8135	1378/2514	460/837	L	Tta/Cta		1		1	NCAM2	HGNC	HGNC:7657	protein_coding	YES	CCDS42910.1	ENSP00000383392	O15394		UPI00001A3703	NM_004540.3			10/18		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF35,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	95	21410456	21410456	T	C	1	0	0	0	0	0	0	0	1	10219	1507	52	5		5	NCAM2	21	21410456	Silent	SNP	T	C3N-02379_TP		21410456	25299527	56	30772											
RRP1B	0	.	GRCh38	chr21	43672338	43672338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaccattgcacagctaGtccatgctgttaacaactca	13	9	5	14	0	1	0	1	0	0	0	2	0	2	0	3	0	6	4	3	0	4	3	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.244G>C	p.Val82Leu	p.V82L	ENST00000340648	3/16	310	284	26	215	215	0	strelka-varscan-mutect	RRP1B,missense_variant,p.Val82Leu,ENST00000340648,NM_015056.2;	C	ENST00000340648	Transcript	missense_variant	361/5090	244/2277	82/758	V/L	Gtc/Ctc		1		1	RRP1B	HGNC	HGNC:23818	protein_coding	YES	CCDS33577.1	ENSP00000339145	Q14684		UPI0000198EE6	NM_015056.2	deleterious(0.01)		3/16		Pfam_domain:PF05997,hmmpanther:PTHR13026,hmmpanther:PTHR13026:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	95	43672338	43672338	G	C	1	0	0	0	0	1	0	0	0	13943	1029	36	4		4	RRP1B	21	43672338	Missense_Mutation	SNP	G	C3N-02379_TP	22261882	43672338	3037645	57	30773											
ZDHHC8	0	.	GRCh38	chr22	20139293	20139293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcatggccactttcatGgaccctggtgttttcccccg	5	13	9	14	1	2	0	2	0	0	0	3	1	3	1	4	3	1	2	4	3	0	4	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.204G>A	p.Met68Ile	p.M68I	ENST00000405930	2/11	147	134	13	151	151	0	strelka-varscan-mutect	ZDHHC8,missense_variant,p.Met68Ile,ENST00000334554,NM_013373.3;ZDHHC8,missense_variant,p.Met68Ile,ENST00000405930,NM_001185024.1;ZDHHC8,missense_variant,p.Met68Ile,ENST00000320602,;ZDHHC8,missense_variant,p.Met57Ile,ENST00000436518,;ZDHHC8,intron_variant,,ENST00000468112,;ZDHHC8,upstream_gene_variant,,ENST00000472497,;ZDHHC8,upstream_gene_variant,,ENST00000469212,;	A	ENST00000405930	Transcript	missense_variant	204/3112	204/2337	68/778	M/I	atG/atA		1		1	ZDHHC8	HGNC	HGNC:18474	protein_coding	YES	CCDS54502.1	ENSP00000384716	Q9ULC8		UPI0000D62100	NM_001185024.1	deleterious(0.01)		2/11		hmmpanther:PTHR12349,hmmpanther:PTHR12349:SF1,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	95	20139293	20139293	G	A	1	0	0	0	0	1	0	0	0	18197	1348	47	3		3	ZDHHC8	22	20139293	Missense_Mutation	SNP	G	C3N-02379_TP		20139293	30679175	58	30774											
CRYBB2	0	.	GRCh38	chr22	25224953	25224953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaactttcaaggccaCtcgcatgagctcaatgggcc	12	7	10	12	1	2	1	2	1	0	0	3	2	2	2	2	3	2	2	2	3	4	1	novel		C3N-02379_TP	C3N-02379_NB	C	C																c.90C>A	p.His30Gln	p.H30Q	ENST00000398215	3/6	444	356	88	549	549	0	strelka-varscan-mutect	CRYBB2,missense_variant,p.His30Gln,ENST00000398215,NM_000496.2;	A	ENST00000398215	Transcript	missense_variant	261/886	90/618	30/205	H/Q	caC/caA		1		1	CRYBB2	HGNC	HGNC:2398	protein_coding	YES	CCDS13831.1	ENSP00000381273	P43320	R4UMM2	UPI000013C6A2	NM_000496.2	deleterious(0.02)		3/6		PROSITE_profiles:PS50915,hmmpanther:PTHR11818:SF11,hmmpanther:PTHR11818,Gene3D:2.60.20.10,Pfam_domain:PF00030,SMART_domains:SM00247,Superfamily_domains:SSF49695																	MODERATE	1	SNV	1			1										PASS		rs1446234610	.												A	3	1	95	25224953	25224953	C	A	1	0	0	0	0	1	0	0	0	3713	564	20	2		2	CRYBB2	22	25224953	Missense_Mutation	SNP	C	C3N-02379_TP	5085660	25224953	25593515	59	30775											
PPP2R3B	0	.	GRCh38	chrX	361534	361534	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctctggggaagtagaaGgtcggaatgctttggctcgt	7	11	15	8	3	1	1	0	0	1	1	4	3	2	3	1	5	1	3	1	5	4	2	rs746509401		C3N-02379_TP	C3N-02379_NB	G	G																c.381C>G	p.=	p.T127T	ENST00000390665	2/13	410	383	27	241	241	0	strelka-varscan-mutect	PPP2R3B,synonymous_variant,p.=,ENST00000390665,NM_013239.4;PPP2R3B,synonymous_variant,p.=,ENST00000381625,;PPP2R3B,non_coding_transcript_exon_variant,,ENST00000445792,;PPP2R3B,upstream_gene_variant,,ENST00000496630,;	C	ENST00000390665	Transcript	synonymous_variant	400/2151	381/1728	127/575	T	acC/acG	rs746509401	1		-1	PPP2R3B	HGNC	HGNC:13417	protein_coding	YES	CCDS14104.1	ENSP00000375080	Q9Y5P8		UPI00001BB8B8	NM_013239.4			2/13		hmmpanther:PTHR14095:SF1,hmmpanther:PTHR14095																	LOW	1	SNV	1			1										PASS		rs746509401	.												C	2	2	95	361534	361534	G	C	1	0	0	0	0	0	0	0	1	12512	987	35	4		4	PPP2R3B	23	361534	Silent	SNP	G	C3N-02379_TP		361534	155679361	60	30776											
DMD	0	.	GRCh38	chrX	31496922	31496922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcagacgcttccactggtCagaactggcttccaaatggg	9	9	12	11	1	1	2	1	0	0	2	3	2	3	2	2	3	2	3	2	3	2	2	novel		C3N-02379_TP	C3N-02379_NB	C	C																c.8413G>A	p.Asp2805Asn	p.D2805N	ENST00000357033	57/79	505	415	90	537	537	0	strelka-varscan-mutect	DMD,missense_variant,p.Asp2805Asn,ENST00000357033,NM_000109.3,NM_004006.2;DMD,missense_variant,p.Asp2801Asn,ENST00000378677,NM_004010.3,NM_004009.3;DMD,missense_variant,p.Asp2804Asn,ENST00000620040,;DMD,missense_variant,p.Asp2800Asn,ENST00000619831,;DMD,missense_variant,p.Asp345Asn,ENST00000378707,NM_004013.2;DMD,missense_variant,p.Asp345Asn,ENST00000359836,NM_004022.2;DMD,missense_variant,p.Asp345Asn,ENST00000541735,NM_004020.3,NM_004023.2;DMD,missense_variant,p.Asp501Asn,ENST00000358062,;DMD,missense_variant,p.Asp76Asn,ENST00000343523,NM_004014.2;DMD,missense_variant,p.Asp345Asn,ENST00000474231,NM_004021.2;DMD,non_coding_transcript_exon_variant,,ENST00000445312,;	T	ENST00000357033	Transcript	missense_variant	8620/13956	8413/11058	2805/3685	D/N	Gac/Aac		1		-1	DMD	HGNC	HGNC:2928	protein_coding	YES	CCDS14233.1	ENSP00000354923		A0A075B6G3	UPI000049E111	NM_000109.3,NM_004006.2	deleterious(0.01)		57/79		hmmpanther:PTHR11915:SF261,hmmpanther:PTHR11915,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	95	31496922	31496922	C	T	1	0	0	0	0	1	0	0	0	4387	826	29	3		3	DMD	23	31496922	Missense_Mutation	SNP	C	C3N-02379_TP	31135388	31496922	124543973	61	30777											
USP27X	0	.	GRCh38	chrX	49881333	49881333	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgccgtttatggcctcaagTaaagagagcagaatgaatgg	14	8	12	7	2	1	3	1	1	0	2	1	4	1	3	2	2	1	3	2	2	6	3	novel		C3N-02379_TP	C3N-02379_NB	T	T																c.1026T>G	p.Ser342Arg	p.S342R	ENST00000621775	1/1	423	335	88	391	390	1	strelka-varscan-mutect	USP27X,missense_variant,p.Ser342Arg,ENST00000621775,NM_001145073.2;USP27X-AS1,upstream_gene_variant,,ENST00000437322,;	G	ENST00000621775	Transcript	missense_variant	1386/2618	1026/1317	342/438	S/R	agT/agG		1		1	USP27X	HGNC	HGNC:13486	protein_coding	YES	CCDS65260.1	ENSP00000483631	A6NNY8		UPI0000EE7A8D	NM_001145073.2	tolerated(0.21)		1/1		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF368,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	MODERATE		SNV				1										PASS		.	.												G	3	3	95	49881333	49881333	T	G	1	0	0	0	0	1	0	0	0	17599	1635	57	5		5	USP27X	23	49881333	Missense_Mutation	SNP	T	C3N-02379_TP	18384411	49881333	106159562	62	30778											
PLS3	0	.	GRCh38	chrX	115646524	115646524	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttagctttagtctggcaGctgatgagaaggtatagtac	11	13	11	6	0	1	2	0	2	1	1	1	3	1	2	0	2	3	5	0	2	6	7	novel		C3N-02379_TP	C3N-02379_NB	G	G																c.1500G>A	p.=	p.Q500Q	ENST00000355899	13/16	102	90	12	124	123	1	strelka-varscan-mutect	PLS3,synonymous_variant,p.=,ENST00000355899,NM_005032.6;PLS3,synonymous_variant,p.=,ENST00000420625,;PLS3,synonymous_variant,p.=,ENST00000539310,NM_001172335.2,NM_001136025.4,NM_001282338.1;PLS3,synonymous_variant,p.=,ENST00000289290,NM_001282337.1;PLS3,downstream_gene_variant,,ENST00000497870,;PLS3,3_prime_UTR_variant,,ENST00000481823,;PLS3,downstream_gene_variant,,ENST00000466150,;	A	ENST00000355899	Transcript	synonymous_variant	1587/3280	1500/1893	500/630	Q	caG/caA		1		1	PLS3	HGNC	HGNC:9091	protein_coding	YES	CCDS14568.1	ENSP00000348163	P13797		UPI000000D962	NM_005032.6			13/16		PROSITE_profiles:PS50021,hmmpanther:PTHR19961,hmmpanther:PTHR19961:SF32,PROSITE_patterns:PS00020,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	95	115646524	115646524	G	A	1	0	0	0	0	0	0	0	1	12216	962	34	3		3	PLS3	23	115646524	Silent	SNP	G	C3N-02379_TP	65765191	115646524	40394371	63	30779											
SLITRK4	0	.	GRCh38	chrX	143630564	143630564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccctcgtatatccagaTgggtcaaagatgcgaatcgg	10	11	11	9	3	1	2	1	0	0	2	5	3	3	2	2	2	1	2	2	2	4	3	novel		C3N-02379_TP	C3N-02379_NB	T	T																c.545A>G	p.His182Arg	p.H182R	ENST00000596188	2/2	208	187	21	207	207	0	strelka-varscan-mutect	SLITRK4,missense_variant,p.His182Arg,ENST00000596188,NM_001184750.2;SLITRK4,missense_variant,p.His182Arg,ENST00000338017,NM_173078.4;SLITRK4,missense_variant,p.His182Arg,ENST00000356928,NM_001184749.2;	C	ENST00000596188	Transcript	missense_variant	771/8545	545/2514	182/837	H/R	cAt/cGt		1		-1	SLITRK4	HGNC	HGNC:23502	protein_coding	YES	CCDS14679.1	ENSP00000469205	Q8IW52		UPI000004E650	NM_001184750.2	deleterious(0.04)		2/2		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF11,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	95	143630564	143630564	T	C	1	0	0	0	0	1	0	0	0	15036	1464	51	5		5	SLITRK4	23	143630564	Missense_Mutation	SNP	T	C3N-02379_TP	27984040	143630564	12410331	64	30780											
EPHA8	0	.	GRCh38	chr1	22593442	22593442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagtatgagatcaagtacTacgagaaggtaccacgggca	14	7	13	7	2	1	2	1	1	0	2	1	5	1	3	1	3	3	4	1	3	6	4	novel		C3N-02380_TP	C3N-02380_NB	T	T																c.1432T>C	p.Tyr478His	p.Y478H	ENST00000166244	6/17	135	123	12	111	111	0	strelka-varscan-mutect	EPHA8,missense_variant,p.Tyr478His,ENST00000166244,NM_020526.3;EPHA8,downstream_gene_variant,,ENST00000374644,NM_001006943.1;	C	ENST00000166244	Transcript	missense_variant	1504/4943	1432/3018	478/1005	Y/H	Tac/Cac		1		1	EPHA8	HGNC	HGNC:3391	protein_coding	YES	CCDS225.1	ENSP00000166244	P29322		UPI000012A07B	NM_020526.3	tolerated(0.1)		6/17		Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF339,hmmpanther:PTHR24416,Pfam_domain:PF00041,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	96	22593442	22593442	T	C	1	0	0	0	0	1	0	0	0	5020	1522	53	5		5	EPHA8	1	22593442	Missense_Mutation	SNP	T	C3N-02380_TP		22593442	226362980	1	30781											
MYCL	0	.	GRCh38	chr1	39901203	39901203	+	Frame_Shift_Del	DEL	G	G	-																															cctgccccagcctttcgagtGgccccgggattccgcttcgt																								novel		C3N-02380_TP	C3N-02380_NB	G	G																c.322delC	p.His108ThrfsTer32	p.H108Tfs*32	ENST00000397332	2/3	154	142	12	131	131	0	sindel-varindel-pindel	MYCL,frameshift_variant,p.His108ThrfsTer32,ENST00000397332,NM_001033082.2;MYCL,frameshift_variant,p.His108ThrfsTer32,ENST00000372815,NM_005376.4;MYCL,frameshift_variant,p.His78ThrfsTer32,ENST00000372816,NM_001033081.2;MYCL,frameshift_variant,p.His78ThrfsTer?,ENST00000450953,;RP1-118J21.5,downstream_gene_variant,,ENST00000418255,;	-	ENST00000397332	Transcript	frameshift_variant	447/3256	322/1185	108/394	H/X	Cac/ac		1		-1	MYCL	HGNC	HGNC:7555	protein_coding	YES	CCDS53300.1	ENSP00000380494	P12524		UPI000047097E	NM_001033082.2			2/3		hmmpanther:PTHR11514,hmmpanther:PTHR11514:SF1,Pfam_domain:PF01056																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	96	39901203	39901203	G	-	1	0	1	0	1	0	0	0	0	10020	1348	47	0		0	MYCL	1	39901203	Frame_Shift_Del	DEL	G	C3N-02380_TP	17307761	39901203	209055219	2	30782											
SPAG17	0	.	GRCh38	chr1	118039391	118039391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccttagggtcatttaaatGaatcataaaattgtggttgt	12	17	8	4	0	2	1	2	1	0	0	3	1	3	1	1	2	0	1	1	2	6	7			C3N-02380_TP	C3N-02380_NB	G	G																c.3220C>T	p.His1074Tyr	p.H1074Y	ENST00000336338	23/49	208	194	14	331	329	2	strelka-varscan-mutect	SPAG17,missense_variant,p.His1074Tyr,ENST00000336338,NM_206996.2;SPAG17,non_coding_transcript_exon_variant,,ENST00000470550,;SPAG17,upstream_gene_variant,,ENST00000486589,;	A	ENST00000336338	Transcript	missense_variant	3286/6924	3220/6672	1074/2223	H/Y	Cat/Tat	COSM4487724	1		-1	SPAG17	HGNC	HGNC:26620	protein_coding	YES	CCDS899.1	ENSP00000337804	Q6Q759		UPI00001601FD	NM_206996.2	deleterious(0.05)		23/49		hmmpanther:PTHR21963											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	96	118039391	118039391	G	A	1	0	0	0	0	1	0	0	0	15310	1290	45	3		3	SPAG17	1	118039391	Missense_Mutation	SNP	G	C3N-02380_TP	78138188	118039391	130917031	3	30783											
FAM89A	0	.	GRCh38	chr1	231020094	231020094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaggctgtacagttggcaGagcaaggacatgtccagctg	11	8	14	8	0	0	2	0	0	0	2	1	3	1	3	1	3	3	6	1	3	3	3	novel		C3N-02380_TP	C3N-02380_NB	G	G																c.324C>T	p.=	p.L108L	ENST00000366654	2/2	161	152	9	133	133	0	strelka-varscan-mutect	FAM89A,synonymous_variant,p.=,ENST00000366654,NM_198552.2;FAM89A,upstream_gene_variant,,ENST00000408363,;FAM89A,non_coding_transcript_exon_variant,,ENST00000494111,;FAM89A,non_coding_transcript_exon_variant,,ENST00000466258,;RP11-423F24.3,upstream_gene_variant,,ENST00000413346,;	A	ENST00000366654	Transcript	synonymous_variant	359/1495	324/555	108/184	L	ctC/ctT		1		-1	FAM89A	HGNC	HGNC:25057	protein_coding	YES	CCDS1590.1	ENSP00000355614	Q96GI7		UPI000006D6ED	NM_198552.2			2/2		hmmpanther:PTHR21529																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	96	231020094	231020094	G	A	1	0	0	0	0	0	0	0	1	5504	929	33	3		3	FAM89A	1	231020094	Silent	SNP	G	C3N-02380_TP	112980703	231020094	17936328	4	30784											
TSNAX	0	.	GRCh38	chr1	231537287	231537287	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtcgggatataactgttGaaagtaaaaggacaattttt	15	14	9	3	1	0	1	0	1	0	0	1	3	0	3	0	2	1	2	0	2	7	7	novel		C3N-02380_TP	C3N-02380_NB	G	G																c.196G>T	p.Glu66Ter	p.E66*	ENST00000366639	3/6	117	101	16	177	176	1	strelka-varscan-mutect	TSNAX,stop_gained,p.Glu66Ter,ENST00000366639,NM_005999.2;TSNAX,stop_gained,p.Glu66Ter,ENST00000413309,;TSNAX,non_coding_transcript_exon_variant,,ENST00000602825,;TSNAX-DISC1,stop_gained,p.Glu66Ter,ENST00000602962,;TSNAX-DISC1,stop_gained,p.Glu66Ter,ENST00000602567,;TSNAX-DISC1,stop_gained,p.Glu66Ter,ENST00000602634,;TSNAX-DISC1,stop_gained,p.Glu66Ter,ENST00000602956,;TSNAX,non_coding_transcript_exon_variant,,ENST00000475168,;TSNAX,non_coding_transcript_exon_variant,,ENST00000476913,;TSNAX-DISC1,intron_variant,,ENST00000602885,;	T	ENST00000366639	Transcript	stop_gained	354/2650	196/873	66/290	E/*	Gaa/Taa		1		1	TSNAX	HGNC	HGNC:12380	protein_coding	YES	CCDS1596.1	ENSP00000355599	Q99598	A0A024R3V8	UPI0000137768	NM_005999.2			3/6		hmmpanther:PTHR10741,hmmpanther:PTHR10741:SF5,Pfam_domain:PF01997,Gene3D:1j1jA01,Superfamily_domains:0047790																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	96	231537287	231537287	G	T	1	0	0	0	0	0	1	0	0	17136	1291	45	2		2	TSNAX	1	231537287	Nonsense_Mutation	SNP	G	C3N-02380_TP	517193	231537287	17419135	5	30785											
CTNNA2	0	.	GRCh38	chr2	79909792	79909792	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctcagcgagtacatgAataatgtaagtcttgggatc	12	11	10	8	1	2	1	1	1	1	0	3	3	2	2	1	1	3	3	1	1	4	4			C3N-02380_TP	C3N-02380_NB	A	A																c.1051A>C	p.Asn351His	p.N351H	ENST00000402739	6/18	59	45	14	59	58	1	strelka-varscan-mutect	CTNNA2,missense_variant,p.Asn351His,ENST00000466387,;CTNNA2,missense_variant,p.Asn351His,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Asn351His,ENST00000402739,NM_001282597.2;CTNNA2,missense_variant,p.Asn351His,ENST00000629316,NM_001164883.1;	C	ENST00000402739	Transcript	missense_variant	1056/3684	1051/2862	351/953	N/H	Aat/Cat	COSM5415354,COSM5415356	1		1	CTNNA2	HGNC	HGNC:2510	protein_coding	YES	CCDS62944.1	ENSP00000384638	P26232		UPI0000D9D4EC	NM_001282597.2	tolerated(0.12)		6/18		Pfam_domain:PF01044,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF23											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1185995811	.												C	3	2	96	79909792	79909792	A	C	1	0	0	0	0	1	0	0	0	3822	260	9	5		5	CTNNA2	2	79909792	Missense_Mutation	SNP	A	C3N-02380_TP		79909792	162283737	6	30786											
GPAT2	0	.	GRCh38	chr2	96026215	96026215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgagctaggtgcacccGggagcagatccggtggctgc	6	6	18	11	2	0	2	0	1	0	1	1	3	1	3	2	5	4	5	2	5	1	1	novel		C3N-02380_TP	C3N-02380_NB	G	G																c.1123C>G	p.Arg375Gly	p.R375G	ENST00000434632	12/23	57	47	10	65	64	1	strelka-varscan-mutect	GPAT2,missense_variant,p.Arg375Gly,ENST00000434632,NM_001321525.1;GPAT2,missense_variant,p.Arg375Gly,ENST00000359548,NM_207328.2;GPAT2,missense_variant,p.Arg304Gly,ENST00000453542,;GPAT2,downstream_gene_variant,,ENST00000439254,;FAHD2CP,downstream_gene_variant,,ENST00000607780,;FAHD2CP,downstream_gene_variant,,ENST00000467292,;FAHD2CP,downstream_gene_variant,,ENST00000443258,;GPAT2,downstream_gene_variant,,ENST00000468438,;FAHD2CP,downstream_gene_variant,,ENST00000483000,;GPAT2,non_coding_transcript_exon_variant,,ENST00000482704,;GPAT2,non_coding_transcript_exon_variant,,ENST00000471757,;GPAT2,non_coding_transcript_exon_variant,,ENST00000486463,;GPAT2,non_coding_transcript_exon_variant,,ENST00000484440,;FAHD2CP,downstream_gene_variant,,ENST00000427863,;	C	ENST00000434632	Transcript	missense_variant	1583/3061	1123/2388	375/795	R/G	Cgg/Ggg		1		-1	GPAT2	HGNC	HGNC:27168	protein_coding	YES	CCDS42714.1	ENSP00000389395	Q6NUI2		UPI0000E5E123	NM_001321525.1	deleterious(0)		12/23		hmmpanther:PTHR12563,hmmpanther:PTHR12563:SF15																	MODERATE	1	SNV	5			1										PASS		rs1368619872	.												C	3	2	96	96026215	96026215	G	C	1	0	0	0	0	1	0	0	0	6486	1115	39	4		4	GPAT2	2	96026215	Missense_Mutation	SNP	G	C3N-02380_TP	16116423	96026215	146167314	7	30787											
UGT1A8	0	.	GRCh38	chr2	233618097	233618097	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaggagtttgtttaatgaCcgaaaattagtagaatactt	14	14	9	4	1	0	2	0	1	0	1	0	4	0	3	1	1	2	4	1	1	7	7	novel		C3N-02380_TP	C3N-02380_NB	C	C																c.390C>T	p.=	p.D130D	ENST00000373450	1/5	126	109	17	210	210	0	strelka-varscan-mutect	UGT1A8,synonymous_variant,p.=,ENST00000373450,NM_019076.4;	T	ENST00000373450	Transcript	synonymous_variant	453/2407	390/1593	130/530	D	gaC/gaT		1		1	UGT1A8	HGNC	HGNC:12540	protein_coding	YES	CCDS33402.1	ENSP00000362549	Q9HAW9	Q5DSZ6	UPI0000072F75	NM_019076.4			1/5		hmmpanther:PTHR11926:SF405,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	96	233618097	233618097	C	T	1	0	0	0	0	0	0	0	1	17476	506	18	3		3	UGT1A8	2	233618097	Silent	SNP	C	C3N-02380_TP	137591882	233618097	8575432	8	30788											
THAP4	0	.	GRCh38	chr2	241633645	241633645	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcctggagtccgttccAgagcttgctgggcctgctcc	4	11	11	15	1	1	1	0	0	1	1	5	2	4	2	5	2	3	4	5	2	0	2	novel		C3N-02380_TP	C3N-02380_NB	A	A																c.512T>G	p.Leu171Arg	p.L171R	ENST00000407315	2/6	143	134	9	154	153	1	strelka-varscan-mutect	THAP4,missense_variant,p.Leu171Arg,ENST00000407315,NM_015963.5;ATG4B,upstream_gene_variant,,ENST00000405546,NM_178326.2;ATG4B,upstream_gene_variant,,ENST00000404914,NM_013325.4;ATG4B,upstream_gene_variant,,ENST00000402096,;THAP4,upstream_gene_variant,,ENST00000612200,;ATG4B,upstream_gene_variant,,ENST00000425239,;ATG4B,upstream_gene_variant,,ENST00000400771,;ATG4B,upstream_gene_variant,,ENST00000430617,;ATG4B,upstream_gene_variant,,ENST00000419606,;ATG4B,upstream_gene_variant,,ENST00000625810,;ATG4B,upstream_gene_variant,,ENST00000491867,;ATG4B,upstream_gene_variant,,ENST00000482507,;ATG4B,upstream_gene_variant,,ENST00000494465,;ATG4B,upstream_gene_variant,,ENST00000483778,;ATG4B,upstream_gene_variant,,ENST00000493618,;ATG4B,upstream_gene_variant,,ENST00000475195,;ATG4B,upstream_gene_variant,,ENST00000468018,;ATG4B,upstream_gene_variant,,ENST00000400772,;ATG4B,upstream_gene_variant,,ENST00000465399,;ATG4B,upstream_gene_variant,,ENST00000479554,;ATG4B,upstream_gene_variant,,ENST00000415107,;	C	ENST00000407315	Transcript	missense_variant	944/2367	512/1734	171/577	L/R	cTg/cGg		1		-1	THAP4	HGNC	HGNC:23187	protein_coding	YES	CCDS2551.1	ENSP00000385006	Q8WY91		UPI000018DBC4	NM_015963.5	tolerated_low_confidence(0.88)		2/6		hmmpanther:PTHR15854,hmmpanther:PTHR15854:SF4																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	96	241633645	241633645	A	C	1	0	0	0	0	1	0	0	0	16279	188	7	5		5	THAP4	2	241633645	Missense_Mutation	SNP	A	C3N-02380_TP	8015548	241633645	559884	9	30789											
VCAN	0	.	GRCh38	chr5	83541582	83541582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtcggctcatctgtaatgtCcccacaggattcttttaagg	8	13	9	11	2	3	0	1	0	2	0	5	1	4	1	2	3	0	2	2	3	2	4	novel		C3N-02380_TP	C3N-02380_NB	C	C																c.8579C>A	p.Ser2860Tyr	p.S2860Y	ENST00000265077	8/15	191	181	10	277	277	0	strelka-varscan-mutect	VCAN,missense_variant,p.Ser2860Tyr,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Ser1873Tyr,ENST00000343200,NM_001164097.1;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,non_coding_transcript_exon_variant,,ENST00000513899,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	A	ENST00000265077	Transcript	missense_variant	9144/12625	8579/10191	2860/3396	S/Y	tCc/tAc		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	deleterious(0.02)		8/15		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804																	MODERATE	1	SNV	1			1										PASS		rs1397075309	.												A	3	1	96	83541582	83541582	C	A	1	0	0	0	0	1	0	0	0	17683	855	30	2		2	VCAN	5	83541582	Missense_Mutation	SNP	C	C3N-02380_TP		83541582	97996677	10	30790											
ADGRV1	0	.	GRCh38	chr5	90627597	90627597	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgatgacaccataccggaGattgctgaatcgtttcacat	11	12	9	9	2	1	4	1	3	0	1	2	5	1	4	2	1	2	3	2	1	2	4	novel		C3N-02380_TP	C3N-02380_NB	G	G																c.1059G>C	p.Glu353Asp	p.E353D	ENST00000405460	7/90	186	113	73	190	190	0	strelka-varscan-mutect	ADGRV1,missense_variant,p.Glu353Asp,ENST00000405460,NM_032119.3;ADGRV1,upstream_gene_variant,,ENST00000504142,;ADGRV1,downstream_gene_variant,,ENST00000508842,;	C	ENST00000405460	Transcript	missense_variant	1155/19338	1059/18921	353/6306	E/D	gaG/gaC		1		1	ADGRV1	HGNC	HGNC:17416	protein_coding	YES	CCDS47246.1	ENSP00000384582	Q8WXG9		UPI00002127A7	NM_032119.3	deleterious(0)		7/90		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072																	MODERATE	1	SNV	1			1										PASS		rs920194615	.												C	3	2	96	90627597	90627597	G	C	1	0	0	0	0	1	0	0	0	379	933	33	4		4	ADGRV1	5	90627597	Missense_Mutation	SNP	G	C3N-02380_TP	7086015	90627597	90910662	11	30791			1	28		3	3	1147	G		1.21221e-06
ADGRV1	0	.	GRCh38	chr5	90627757	90627757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaaggacagttataattGatgaagatagaatatcaagg	18	11	10	2	0	1	5	1	3	0	2	1	6	1	6	0	2	0	1	0	2	8	6	novel		C3N-02380_TP	C3N-02380_NB	G	G																c.1219G>A	p.Asp407Asn	p.D407N	ENST00000405460	7/90	51	35	16	52	52	0	strelka-varscan-mutect	ADGRV1,missense_variant,p.Asp407Asn,ENST00000405460,NM_032119.3;ADGRV1,upstream_gene_variant,,ENST00000504142,;	A	ENST00000405460	Transcript	missense_variant	1315/19338	1219/18921	407/6306	D/N	Gat/Aat		1		1	ADGRV1	HGNC	HGNC:17416	protein_coding	YES	CCDS47246.1	ENSP00000384582	Q8WXG9		UPI00002127A7	NM_032119.3	tolerated(0.34)		7/90		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	96	90627757	90627757	G	A	1	0	0	0	0	1	0	0	0	379	1290	45	3		3	ADGRV1	5	90627757	Missense_Mutation	SNP	G	C3N-02380_TP	160	90627757	90910502	12	30792			1	28		3	3	1147	G		1.21221e-06
ADGRV1	0	.	GRCh38	chr5	90628743	90628743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctcttactgtggttgatGatgatcttccagaagaggca	9	14	10	8	0	2	5	0	3	2	2	4	5	4	5	2	2	1	2	2	2	2	4			C3N-02380_TP	C3N-02380_NB	G	G																c.1420G>A	p.Asp474Asn	p.D474N	ENST00000405460	8/90	416	244	172	282	282	0	strelka-varscan-mutect	ADGRV1,missense_variant,p.Asp474Asn,ENST00000405460,NM_032119.3;ADGRV1,missense_variant,p.Asp63Asn,ENST00000504142,;	A	ENST00000405460	Transcript	missense_variant	1516/19338	1420/18921	474/6306	D/N	Gat/Aat	COSM4006076	1		1	ADGRV1	HGNC	HGNC:17416	protein_coding	YES	CCDS47246.1	ENSP00000384582	Q8WXG9		UPI00002127A7	NM_032119.3	deleterious(0)		8/90		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	96	90628743	90628743	G	A	1	0	0	0	0	1	0	0	0	379	1290	45	3		3	ADGRV1	5	90628743	Missense_Mutation	SNP	G	C3N-02380_TP	986	90628743	90909516	13	30793			1	28		3	3	1147	G		1.21221e-06
THG1L	0	.	GRCh38	chr5	157734622	157734622	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtttgcctccagctatgtgTtttattggcgggattacttt	6	18	10	7	1	0	0	0	0	0	0	1	1	1	1	2	2	3	3	2	2	3	7	novel		C3N-02380_TP	C3N-02380_NB	T	T																c.415T>C	p.Phe139Leu	p.F139L	ENST00000231198	3/6	331	299	32	209	209	0	strelka-varscan-mutect	THG1L,missense_variant,p.Phe139Leu,ENST00000231198,NM_001317825.1,NM_017872.3;THG1L,intron_variant,,ENST00000521655,;THG1L,upstream_gene_variant,,ENST00000523575,;	C	ENST00000231198	Transcript	missense_variant	659/3107	415/897	139/298	F/L	Ttt/Ctt		1		1	THG1L	HGNC	HGNC:26053	protein_coding	YES	CCDS4341.1	ENSP00000231198	Q9NWX6		UPI0000073782	NM_001317825.1,NM_017872.3	tolerated(0.06)		3/6		Pfam_domain:PF04446,PIRSF_domain:PIRSF028980,hmmpanther:PTHR12729,hmmpanther:PTHR12729:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	96	157734622	157734622	T	C	1	0	0	0	0	1	0	0	0	16296	1725	60	5		5	THG1L	5	157734622	Missense_Mutation	SNP	T	C3N-02380_TP	67105879	157734622	23803637	14	30794											
HACE1	0	.	GRCh38	chr6	104785072	104785072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagaaataacatcctgaCaatctgcactggcttcctgt	12	12	6	11	0	2	2	1	1	1	1	4	2	4	2	2	1	2	2	2	1	4	3	novel		C3N-02380_TP	C3N-02380_NB	C	C																c.1322G>A	p.Cys441Tyr	p.C441Y	ENST00000262903	12/24	152	136	16	146	146	0	strelka-varscan-mutect	HACE1,missense_variant,p.Cys441Tyr,ENST00000262903,NM_001321083.1,NM_020771.3;HACE1,missense_variant,p.Cys441Tyr,ENST00000369125,;HACE1,upstream_gene_variant,,ENST00000518503,;HACE1,upstream_gene_variant,,ENST00000517995,;HACE1,missense_variant,p.Cys43Tyr,ENST00000517424,;HACE1,3_prime_UTR_variant,,ENST00000416605,;HACE1,non_coding_transcript_exon_variant,,ENST00000369127,;	T	ENST00000262903	Transcript	missense_variant	1599/4576	1322/2730	441/909	C/Y	tGt/tAt		1		-1	HACE1	HGNC	HGNC:21033	protein_coding	YES	CCDS5050.1	ENSP00000262903	Q8IYU2		UPI00001602DC	NM_001321083.1,NM_020771.3	deleterious(0.03)		12/24		hmmpanther:PTHR11254																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	96	104785072	104785072	C	T	1	0	0	0	0	1	0	0	0	6826	478	17	3		3	HACE1	6	104785072	Missense_Mutation	SNP	C	C3N-02380_TP		104785072	66020907	15	30795											
TUBE1	0	.	GRCh38	chr6	112071996	112071996	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctaataacgaatgagaaTggcccacaggaggtacggaa	17	5	12	7	2	0	1	0	1	0	1	0	5	0	3	1	4	3	2	1	4	7	3	novel		C3N-02380_TP	C3N-02380_NB	T	T																c.1175A>C	p.His392Pro	p.H392P	ENST00000368662	11/12	178	166	12	169	169	0	strelka-varscan-mutect	TUBE1,missense_variant,p.His392Pro,ENST00000368662,NM_016262.4;WISP3,downstream_gene_variant,,ENST00000368666,NM_198239.1;WISP3,downstream_gene_variant,,ENST00000361714,;WISP3,downstream_gene_variant,,ENST00000604763,;WISP3,downstream_gene_variant,,ENST00000230529,NM_003880.3;WISP3,downstream_gene_variant,,ENST00000409166,;TUBE1,non_coding_transcript_exon_variant,,ENST00000604814,;WISP3,downstream_gene_variant,,ENST00000620524,;WISP3,downstream_gene_variant,,ENST00000613648,;TUBE1,downstream_gene_variant,,ENST00000441191,;TUBE1,3_prime_UTR_variant,,ENST00000605457,;TUBE1,downstream_gene_variant,,ENST00000604689,;WISP3,downstream_gene_variant,,ENST00000368664,;WISP3,downstream_gene_variant,,ENST00000454589,;TUBE1,downstream_gene_variant,,ENST00000604743,;TUBE1,downstream_gene_variant,,ENST00000604967,;TUBE1,downstream_gene_variant,,ENST00000603651,;	G	ENST00000368662	Transcript	missense_variant	1254/2142	1175/1428	392/475	H/P	cAt/cCt		1		-1	TUBE1	HGNC	HGNC:20775	protein_coding	YES	CCDS5100.1	ENSP00000357651	Q9UJT0		UPI0000136A4E	NM_016262.4	tolerated(0.15)		11/12		hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF13,Pfam_domain:PF03953,Gene3D:3.30.1330.20,SMART_domains:SM00865,Superfamily_domains:SSF55307																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	96	112071996	112071996	T	G	1	0	0	0	0	1	0	0	0	17273	1464	51	5		5	TUBE1	6	112071996	Missense_Mutation	SNP	T	C3N-02380_TP	7286924	112071996	58733983	16	30796											
EEPD1	0	.	GRCh38	chr7	36155026	36155026	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaggacctggacctgccGccaggggggcccacccagat	8	4	15	14	1	0	2	0	1	0	1	0	4	0	4	6	5	1	0	6	5	0	0	rs776101800		C3N-02380_TP	C3N-02380_NB	G	G																c.702G>A	p.=	p.P234P	ENST00000242108	2/8	62	57	5	71	71	0	strelka-varscan-mutect	EEPD1,synonymous_variant,p.=,ENST00000242108,NM_030636.2;EEPD1,synonymous_variant,p.=,ENST00000534978,;	A	ENST00000242108	Transcript	synonymous_variant	1420/4765	702/1710	234/569	P	ccG/ccA	rs776101800,COSM118192	1		1	EEPD1	HGNC	HGNC:22223	protein_coding	YES	CCDS34619.1	ENSP00000242108	Q7L9B9		UPI000020ED9D	NM_030636.2			2/8		hmmpanther:PTHR21180:SF32,hmmpanther:PTHR21180											0,1						LOW	1	SNV	1		0,1	1										PASS		rs776101800	.												A	2	1	96	36155026	36155026	G	A	1	0	0	0	0	0	0	0	1	4763	1074	38	1		1	EEPD1	7	36155026	Silent	SNP	G	C3N-02380_TP		36155026	123190947	17	30797											
EGFR	0	.	GRCh38	chr7	55174772	55174786	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-																															aaaattcccgtcgctatcaaGgaattaagagaagcaacatc																								rs121913421		C3N-02380_TP	C3N-02380_NB	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC																c.2235_2249delGGAATTAAGAGAAGC	p.Glu746_Ala750del	p.E746_A750del	ENST00000275493	19/28	429	332	97	450	450	0	sindel-varindel-pindel	EGFR,inframe_deletion,p.Glu746_Ala750del,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000454757,;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	-	ENST00000275493	Transcript	inframe_deletion	2412-2426/9821	2235-2249/3633	745-750/1210	KELREA/K	aaGGAATTAAGAGAAGCa/aaa	rs121913421,COSM6223	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1						MODERATE	1	deletion	1		1,1	1										PASS		.	.												-	7	5	96	55174772	55174772	GGAATTAAGAGAAGC	-	1	0	1	0	1	0	0	0	0	4803	991	35	0		0	EGFR	7	55174772	In_Frame_Del	DEL	GGAATTAAGAGAAGC	C3N-02380_TP	19019746	55174772	104171201	18	30798											
ELP3	0	.	GRCh38	chr8	28137770	28137770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggtgattcgtgggaccGggctttatgagctttggaaa	7	12	14	8	2	0	2	0	2	0	0	1	4	0	4	2	4	1	2	2	4	2	4	rs185393822		C3N-02380_TP	C3N-02380_NB	G	G																c.979G>T	p.Gly327Trp	p.G327W	ENST00000256398	10/15	268	240	28	328	328	0	strelka-varscan-mutect	ELP3,missense_variant,p.Gly327Trp,ENST00000256398,NM_018091.5;ELP3,missense_variant,p.Gly313Trp,ENST00000521015,NM_001284222.1;ELP3,missense_variant,p.Gly235Trp,ENST00000380353,NM_001284226.1;ELP3,missense_variant,p.Gly208Trp,ENST00000537665,NM_001284225.1,NM_001284224.1;ELP3,missense_variant,p.Gly255Trp,ENST00000524103,NM_001284220.1;ELP3,non_coding_transcript_exon_variant,,ENST00000520110,;ELP3,3_prime_UTR_variant,,ENST00000518112,;ELP3,3_prime_UTR_variant,,ENST00000519261,;ELP3,3_prime_UTR_variant,,ENST00000523687,;	T	ENST00000256398	Transcript	missense_variant	1356/3452	979/1644	327/547	G/W	Ggg/Tgg	rs185393822	1		1	ELP3	HGNC	HGNC:20696	protein_coding	YES	CCDS6065.1	ENSP00000256398	Q9H9T3		UPI000006F0B5	NM_018091.5	deleterious(0)		10/15		hmmpanther:PTHR11135,PIRSF_domain:PIRSF005669,Pfam_domain:PF16199,TIGRFAM_domain:TIGR01211,Gene3D:2qgqB01,SMART_domains:SM00729,Superfamily_domains:SSF102114																	MODERATE	1	SNV	1			1										PASS		rs185393822	.												T	3	4	96	28137770	28137770	G	T	1	0	0	0	0	1	0	0	0	4915	1116	39	1		1	ELP3	8	28137770	Missense_Mutation	SNP	G	C3N-02380_TP		28137770	117000866	19	30799											
UNC5D	0	.	GRCh38	chr8	35726463	35726463	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctgtcatcactccccacaAggacagaactgaggacaact	14	7	7	13	0	3	2	2	1	1	1	4	4	4	4	2	2	2	0	2	2	3	0	rs780208018		C3N-02380_TP	C3N-02380_NB	A	A																c.1615A>G	p.Arg539Gly	p.R539G	ENST00000404895	10/17	201	157	44	226	225	1	strelka-varscan-mutect	UNC5D,missense_variant,p.Arg470Gly,ENST00000287272,;UNC5D,missense_variant,p.Arg534Gly,ENST00000453357,;UNC5D,missense_variant,p.Arg544Gly,ENST00000416672,;UNC5D,missense_variant,p.Arg539Gly,ENST00000404895,NM_080872.2;UNC5D,missense_variant,p.Arg472Gly,ENST00000420357,;UNC5D,missense_variant,p.Arg115Gly,ENST00000449677,;UNC5D,non_coding_transcript_exon_variant,,ENST00000474634,;	G	ENST00000404895	Transcript	missense_variant	1943/3252	1615/2862	539/953	R/G	Agg/Ggg	rs780208018	1		1	UNC5D	HGNC	HGNC:18634	protein_coding	YES	CCDS6093.2	ENSP00000385143	Q6UXZ4		UPI00001D6915	NM_080872.2	tolerated(0.22)		10/17		hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF5																	MODERATE	1	SNV	1			1										PASS		rs780208018	.												G	3	3	96	35726463	35726463	A	G	1	0	0	0	0	1	0	0	0	17519	63	3	5		5	UNC5D	8	35726463	Missense_Mutation	SNP	A	C3N-02380_TP	7588693	35726463	109412173	20	30800											
HPSE2	0	.	GRCh38	chr10	98721796	98721796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caactggctgccatttactgCccggccatgcatggtccgat	7	10	10	14	2	0	0	0	0	0	0	1	1	1	0	4	3	5	2	4	3	2	2			C3N-02380_TP	C3N-02380_NB	C	C																c.817G>T	p.Ala273Ser	p.A273S	ENST00000370552	5/12	392	321	71	408	407	1	strelka-varscan-mutect	HPSE2,missense_variant,p.Ala70Ser,ENST00000404542,;HPSE2,missense_variant,p.Ala273Ser,ENST00000370552,NM_021828.4;HPSE2,missense_variant,p.Ala215Ser,ENST00000370549,NM_001166244.1;HPSE2,missense_variant,p.Ala273Ser,ENST00000370546,NM_001166246.1;HPSE2,missense_variant,p.Ala161Ser,ENST00000628193,NM_001166245.1;	A	ENST00000370552	Transcript	missense_variant	877/2295	817/1779	273/592	A/S	Gca/Tca	COSM5309453,COSM5309454	1		-1	HPSE2	HGNC	HGNC:18374	protein_coding	YES	CCDS7477.1	ENSP00000359583	Q8WWQ2		UPI00001AEEC0	NM_021828.4	tolerated(0.44)		5/12		Gene3D:3.20.20.80,Pfam_domain:PF03662,hmmpanther:PTHR14363,hmmpanther:PTHR14363:SF15,Superfamily_domains:SSF51445											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1175821626	.												A	3	1	96	98721796	98721796	C	A	1	0	0	0	0	1	0	0	0	7240	739	26	2		2	HPSE2	10	98721796	Missense_Mutation	SNP	C	C3N-02380_TP		98721796	35075626	21	30801											
ABCC8	0	.	GRCh38	chr11	17427128	17427128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaggacttgccgcagcccaCctgccccacgatcatagtca	9	6	9	17	3	2	0	2	0	0	0	2	3	2	1	5	1	3	1	5	1	1	2			C3N-02380_TP	C3N-02380_NB	C	C																c.2143G>C	p.Val715Leu	p.V715L	ENST00000302539	16/39	125	107	18	77	77	0	strelka-varscan-mutect	ABCC8,missense_variant,p.Val715Leu,ENST00000302539,NM_001287174.1;ABCC8,missense_variant,p.Val715Leu,ENST00000389817,NM_000352.4;ABCC8,downstream_gene_variant,,ENST00000528202,;ABCC8,missense_variant,p.Val705Leu,ENST00000527905,;ABCC8,non_coding_transcript_exon_variant,,ENST00000531911,;ABCC8,downstream_gene_variant,,ENST00000532728,;ABCC8,downstream_gene_variant,,ENST00000635881,;ABCC8,downstream_gene_variant,,ENST00000526002,;	G	ENST00000302539	Transcript	missense_variant	2212/4923	2143/4749	715/1582	V/L	Gtg/Ctg	CD061344	1		-1	ABCC8	HGNC	HGNC:59	protein_coding	YES	CCDS73264.1	ENSP00000303960	Q09428		UPI00015DFF64	NM_001287174.1	tolerated(0.06)		16/39		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF187,SMART_domains:SM00382,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5		1	1										PASS		.	.												G	3	3	96	17427128	17427128	C	G	1	0	0	0	0	1	0	0	0	62	507	18	4		4	ABCC8	11	17427128	Missense_Mutation	SNP	C	C3N-02380_TP		17427128	117659494	22	30802											
GUCY1A2	0	.	GRCh38	chr11	106810176	106810176	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcccttgccataattgctgGgctacatcaccagggaaaat	11	10	9	11	0	1	0	1	0	0	0	1	1	1	1	3	2	4	2	3	2	4	4	novel		C3N-02380_TP	C3N-02380_NB	G	G																c.1509C>A	p.=	p.A503A	ENST00000282249	5/9	260	233	27	292	292	0	strelka-varscan-mutect	GUCY1A2,synonymous_variant,p.=,ENST00000526355,NM_000855.2;GUCY1A2,synonymous_variant,p.=,ENST00000282249,NM_001256424.1;GUCY1A2,synonymous_variant,p.=,ENST00000347596,;	T	ENST00000282249	Transcript	synonymous_variant	1899/3047	1509/2292	503/763	A	gcC/gcA		1		-1	GUCY1A2	HGNC	HGNC:4684	protein_coding	YES	CCDS58170.1	ENSP00000282249	P33402		UPI000002A79C	NM_001256424.1			5/9		hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF276,Pfam_domain:PF07701,SMART_domains:SM00044																	LOW	1	SNV	1			1										PASS		rs895547657	.												T	2	4	96	106810176	106810176	G	T	1	0	0	0	0	0	0	0	1	6775	1219	43	2		2	GUCY1A2	11	106810176	Silent	SNP	G	C3N-02380_TP	89383048	106810176	28276446	23	30803											
PLBD1	0	.	GRCh38	chr12	14567640	14567640	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcagcagcagcagcagCagaagcggtggcggctgtgg	9	3	19	10	2	0	1	0	0	0	1	0	1	0	1	0	5	7	8	0	5	1	0	novel		C3N-02380_TP	C3N-02380_NB	C	C																c.57G>T	p.=	p.L19L	ENST00000240617	1/11	106	100	6	140	139	1	varscan-mutect	PLBD1,synonymous_variant,p.=,ENST00000240617,NM_024829.5;PLBD1-AS1,upstream_gene_variant,,ENST00000542401,;PLBD1-AS1,upstream_gene_variant,,ENST00000545424,;PLBD1,synonymous_variant,p.=,ENST00000541618,;	A	ENST00000240617	Transcript	synonymous_variant	710/2426	57/1662	19/553	L	ctG/ctT		1		-1	PLBD1	HGNC	HGNC:26215	protein_coding	YES	CCDS31751.1	ENSP00000240617	Q6P4A8		UPI00004565DA	NM_024829.5			1/11		hmmpanther:PTHR12370,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	LOW	1	SNV	1			1										PASS		rs1177661049	.												A	2	1	96	14567640	14567640	C	A	1	0	0	0	0	0	0	0	1	12119	697	25	2		2	PLBD1	12	14567640	Silent	SNP	C	C3N-02380_TP		14567640	118707669	24	30804											
CAND1	0	.	GRCh38	chr12	67297441	67297441	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttaatttccatccttcaAttctgacctgtctacttccc	7	18	3	13	0	3	1	1	1	2	0	6	1	6	1	4	0	1	1	4	0	3	7	novel		C3N-02380_TP	C3N-02380_NB	A	A																c.526A>T	p.Ile176Phe	p.I176F	ENST00000545606	5/15	161	122	39	178	178	0	strelka-varscan-mutect	CAND1,missense_variant,p.Ile176Phe,ENST00000545606,NM_018448.4;CAND1,upstream_gene_variant,,ENST00000544619,;CAND1,downstream_gene_variant,,ENST00000540525,;CAND1,missense_variant,p.Ile58Phe,ENST00000540319,;CAND1,non_coding_transcript_exon_variant,,ENST00000535146,;CAND1,downstream_gene_variant,,ENST00000539434,;	T	ENST00000545606	Transcript	missense_variant	963/11251	526/3693	176/1230	I/F	Att/Ttt		1		1	CAND1	HGNC	HGNC:30688	protein_coding	YES	CCDS8977.1	ENSP00000442318	Q86VP6		UPI0000037CC5	NM_018448.4	deleterious(0)		5/15		hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF1,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		rs1450254942	.												T	3	4	96	67297441	67297441	A	T	1	0	0	0	0	1	0	0	0	2308	101	4	4		4	CAND1	12	67297441	Missense_Mutation	SNP	A	C3N-02380_TP	52729801	67297441	65977868	25	30805											
PIBF1	0	.	GRCh38	chr13	72783536	72783536	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttctctggaatctgaagatAttagtttagaaacaacagtt	14	14	8	5	0	2	3	0	1	2	2	3	4	2	4	0	1	2	3	0	1	7	6	novel		C3N-02380_TP	C3N-02380_NB	A	A																c.67A>G	p.Ile23Val	p.I23V	ENST00000326291	2/18	150	133	17	275	275	0	strelka-varscan-mutect	PIBF1,missense_variant,p.Ile23Val,ENST00000326291,NM_006346.2;PIBF1,missense_variant,p.Ile23Val,ENST00000617689,;PIBF1,intron_variant,,ENST00000615625,;DIS3,upstream_gene_variant,,ENST00000377767,NM_014953.4;DIS3,upstream_gene_variant,,ENST00000377780,NM_001128226.2;DIS3,upstream_gene_variant,,ENST00000545453,;PIBF1,intron_variant,,ENST00000489797,;DIS3,upstream_gene_variant,,ENST00000475871,;DIS3,upstream_gene_variant,,ENST00000490646,;	G	ENST00000326291	Transcript	missense_variant	405/3154	67/2274	23/757	I/V	Att/Gtt		1		1	PIBF1	HGNC	HGNC:23352	protein_coding	YES	CCDS31991.1	ENSP00000317144	Q8WXW3		UPI00001418B9	NM_006346.2	tolerated(0.23)		2/18		Low_complexity_(Seg):seg,hmmpanther:PTHR18950:SF0,hmmpanther:PTHR18950																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	96	72783536	72783536	A	G	1	0	0	0	0	1	0	0	0	11969	449	16	5		5	PIBF1	13	72783536	Missense_Mutation	SNP	A	C3N-02380_TP		72783536	41580792	26	30806											
MTMR10	0	.	GRCh38	chr15	30991474	30991474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggcaggaggtaggacctGaaggtgggtttgggcggctt	6	9	21	5	1	0	1	0	1	0	0	0	3	0	3	1	9	0	4	1	9	2	3	novel		C3N-02380_TP	C3N-02380_NB	G	G																c.33C>T	p.=	p.F11F	ENST00000435680	1/16	80	72	8	74	73	1	varscan-mutect	MTMR10,synonymous_variant,p.=,ENST00000435680,NM_017762.2;MTMR10,upstream_gene_variant,,ENST00000563714,;MTMR10,synonymous_variant,p.=,ENST00000568604,;MTMR10,synonymous_variant,p.=,ENST00000567567,;MTMR10,synonymous_variant,p.=,ENST00000564787,;MTMR10,non_coding_transcript_exon_variant,,ENST00000565728,;	A	ENST00000435680	Transcript	synonymous_variant	131/4961	33/2334	11/777	F	ttC/ttT		1		-1	MTMR10	HGNC	HGNC:25999	protein_coding	YES	CCDS45204.1	ENSP00000402537	Q9NXD2	X5D963	UPI00001FE130	NM_017762.2			1/16		hmmpanther:PTHR10807:SF39,hmmpanther:PTHR10807																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	96	30991474	30991474	G	A	1	0	0	0	0	0	0	0	1	9927	1281	45	3		3	MTMR10	15	30991474	Silent	SNP	G	C3N-02380_TP		30991474	70999715	27	30807											
CLPX	0	.	GRCh38	chr15	65154978	65154978	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaccgatctttttcttcaAtgtcttggtgagtattcgat	9	18	7	7	2	4	1	1	1	3	0	5	3	4	1	1	1	1	1	1	1	3	7	novel		C3N-02380_TP	C3N-02380_NB	A	A																c.1415T>C	p.Ile472Thr	p.I472T	ENST00000300107	11/14	360	325	35	414	414	0	strelka-varscan-mutect	CLPX,missense_variant,p.Ile472Thr,ENST00000300107,NM_006660.3;CLPX,3_prime_UTR_variant,,ENST00000559152,;CLPX,non_coding_transcript_exon_variant,,ENST00000560166,;CLPX,downstream_gene_variant,,ENST00000558958,;CLPX,downstream_gene_variant,,ENST00000558103,;	G	ENST00000300107	Transcript	missense_variant	1604/4695	1415/1902	472/633	I/T	aTt/aCt		1		-1	CLPX	HGNC	HGNC:2088	protein_coding	YES	CCDS10202.1	ENSP00000300107	O76031	A0A024R5X7	UPI0000127B73	NM_006660.3	tolerated(0.71)		11/14		Pfam_domain:PF07724,hmmpanther:PTHR11262,hmmpanther:PTHR11262:SF14,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00382																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	96	65154978	65154978	A	G	1	0	0	0	0	1	0	0	0	3328	101	4	5		5	CLPX	15	65154978	Missense_Mutation	SNP	A	C3N-02380_TP	34163504	65154978	36836211	28	30808											
TMEM114	0	.	GRCh38	chr16	8569816	8569816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctcaggctgagctcgcggGctgctgccaggaaggctgcc	5	7	16	13	2	1	1	1	1	1	0	3	2	1	2	2	4	4	5	2	4	1	0	novel		C3N-02380_TP	C3N-02380_NB	G	G																c.629C>T	p.Ala210Val	p.A210V	ENST00000620492	4/4	149	141	8	158	158	0	strelka-varscan-mutect	TMEM114,missense_variant,p.Ala210Val,ENST00000620492,NM_001146336.1;TMEM114,missense_variant,p.Ala129Val,ENST00000568335,NM_001290097.1;TMEM114,missense_variant,p.Ala164Val,ENST00000624696,NM_001290095.1;TMEM114,intron_variant,,ENST00000623677,;TMEM114,non_coding_transcript_exon_variant,,ENST00000444171,;	A	ENST00000620492	Transcript	missense_variant	629/945	629/672	210/223	A/V	gCc/gTc		1		-1	TMEM114	HGNC	HGNC:33227	protein_coding	YES	CCDS73825.1	ENSP00000484263	B3SHH9		UPI0001813351	NM_001146336.1	deleterious(0)		4/4		hmmpanther:PTHR20516,hmmpanther:PTHR20516:SF2,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		rs1033272102	.												A	3	1	96	8569816	8569816	G	A	1	0	0	0	0	1	0	0	0	16472	1203	42	3		3	TMEM114	16	8569816	Missense_Mutation	SNP	G	C3N-02380_TP		8569816	81768529	29	30809											
LPCAT2	0	.	GRCh38	chr16	55574708	55574708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccttccaacacagaggaGatcatccaggtggcatttaa	14	8	8	11	0	1	2	1	0	0	2	3	3	3	2	3	3	2	1	3	3	3	3	novel		C3N-02380_TP	C3N-02380_NB	G	G																c.1293G>T	p.Glu431Asp	p.E431D	ENST00000262134	12/14	261	241	20	227	227	0	strelka-varscan-mutect	LPCAT2,missense_variant,p.Glu431Asp,ENST00000262134,NM_017839.4;LPCAT2,non_coding_transcript_exon_variant,,ENST00000565056,;LPCAT2,non_coding_transcript_exon_variant,,ENST00000566915,;LPCAT2,non_coding_transcript_exon_variant,,ENST00000563095,;LPCAT2,upstream_gene_variant,,ENST00000562299,;	T	ENST00000262134	Transcript	missense_variant	1477/5391	1293/1635	431/544	E/D	gaG/gaT		1		1	LPCAT2	HGNC	HGNC:26032	protein_coding	YES	CCDS10753.1	ENSP00000262134	Q7L5N7		UPI00001BD900	NM_017839.4	tolerated(0.59)		12/14		PROSITE_profiles:PS50222,hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF21,Pfam_domain:PF13499,Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	96	55574708	55574708	G	T	1	0	0	0	0	1	0	0	0	8814	933	33	2		2	LPCAT2	16	55574708	Missense_Mutation	SNP	G	C3N-02380_TP	47004892	55574708	34763637	30	30810											
TANGO6	0	.	GRCh38	chr16	68875288	68875288	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacagggacatctgccccCaggtaaatctttttgtttct	9	14	7	11	0	3	0	0	0	3	0	3	1	3	1	2	2	2	2	2	2	3	5	novel		C3N-02380_TP	C3N-02380_NB	C	C																c.1129C>G	p.Gln377Glu	p.Q377E	ENST00000261778	5/18	93	88	5	101	101	0	strelka-varscan-mutect	TANGO6,missense_variant,p.Gln377Glu,ENST00000261778,NM_024562.1;TANGO6,missense_variant,p.Gln23Glu,ENST00000565852,;	G	ENST00000261778	Transcript	missense_variant,splice_region_variant	1141/4816	1129/3285	377/1094	Q/E	Cag/Gag		1		1	TANGO6	HGNC	HGNC:25749	protein_coding	YES	CCDS45516.1	ENSP00000261778	Q9C0B7		UPI00001FF4A8	NM_024562.1	deleterious(0)		5/18		hmmpanther:PTHR20959,hmmpanther:PTHR20959:SF1																	MODERATE	1	SNV	1			1										PASS		rs1163260258	.												G	3	3	96	68875288	68875288	C	G	1	0	0	0	0	1	0	0	0	15944	608	21	4		4	TANGO6	16	68875288	Missense_Mutation	SNP	C	C3N-02380_TP	13300580	68875288	21463057	31	30811											
TNRC6C	0	.	GRCh38	chr17	78050009	78050009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcctggggaaggggcagtgGcaacaatggcgttggtaata	10	7	17	7	2	0	0	0	0	0	0	0	1	0	1	1	7	1	4	1	7	5	3	novel		C3N-02380_TP	C3N-02380_NB	G	G																c.947G>T	p.Gly316Val	p.G316V	ENST00000335749	3/21	113	100	13	84	84	0	strelka-varscan-mutect	TNRC6C,missense_variant,p.Gly316Val,ENST00000335749,NM_001142640.1;TNRC6C,missense_variant,p.Gly316Val,ENST00000301624,NM_018996.3;TNRC6C,missense_variant,p.Gly316Val,ENST00000588847,;TNRC6C,missense_variant,p.Gly316Val,ENST00000588061,;TNRC6C,missense_variant,p.Gly526Val,ENST00000636222,;TNRC6C,intron_variant,,ENST00000585438,;TNRC6C,downstream_gene_variant,,ENST00000588549,;TNRC6C,upstream_gene_variant,,ENST00000591851,;	T	ENST00000335749	Transcript	missense_variant	1516/9740	947/5181	316/1726	G/V	gGc/gTc		1		1	TNRC6C	HGNC	HGNC:29318	protein_coding	YES	CCDS45799.1	ENSP00000336783	Q9HCJ0		UPI0000EE5F80	NM_001142640.1	deleterious(0)		3/21		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF9																	MODERATE	1	SNV	5			1										PASS		rs1354988685	.												T	3	4	96	78050009	78050009	G	T	1	0	0	0	0	1	0	0	0	16815	1203	42	2		2	TNRC6C	17	78050009	Missense_Mutation	SNP	G	C3N-02380_TP		78050009	5207432	32	30812											
SMAD4	0	.	GRCh38	chr18	51065576	51065576	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggtcaactctccaatgTccacaggacagaagccattg	11	10	9	11	0	2	1	1	0	1	1	4	2	3	2	3	2	2	0	3	2	3	2			C3N-02380_TP	C3N-02380_NB	T	T																c.1109T>A	p.Val370Asp	p.V370D	ENST00000342988	9/12	139	131	8	195	195	0	strelka-varscan-mutect	SMAD4,missense_variant,p.Val370Asp,ENST00000342988,NM_005359.5;SMAD4,missense_variant,p.Val370Asp,ENST00000398417,;SMAD4,missense_variant,p.Val274Asp,ENST00000588745,;SMAD4,upstream_gene_variant,,ENST00000593223,;SMAD4,missense_variant,p.Val104Asp,ENST00000611848,;SMAD4,non_coding_transcript_exon_variant,,ENST00000591126,;SMAD4,intron_variant,,ENST00000592186,;SMAD4,upstream_gene_variant,,ENST00000590499,;	A	ENST00000342988	Transcript	missense_variant	1647/8769	1109/1659	370/552	V/D	gTc/gAc	COSM5082878	1		1	SMAD4	HGNC	HGNC:6770	protein_coding	YES	CCDS11950.1	ENSP00000341551	Q13485	A0A024R274	UPI0000053431	NM_005359.5	deleterious(0)		9/12		Gene3D:2.60.200.10,Pfam_domain:PF03166,PROSITE_profiles:PS51076,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF39,SMART_domains:SM00524,Superfamily_domains:SSF49879											1						MODERATE	1	SNV	5		1	1										PASS		.	.												A	3	1	96	51065576	51065576	T	A	1	0	0	0	0	1	0	0	0	15053	1667	58	4		4	SMAD4	18	51065576	Missense_Mutation	SNP	T	C3N-02380_TP		51065576	29307709	33	30813											
UNC13A	0	.	GRCh38	chr19	17633116	17633116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggaaactcaccctccatgGcgtacttcatgtcttgggca	8	11	10	12	1	3	0	2	0	1	0	4	1	4	1	2	3	2	2	2	3	2	3	novel		C3N-02380_TP	C3N-02380_NB	G	G																c.3293C>T	p.Ala1098Val	p.A1098V	ENST00000519716	27/44	127	108	19	125	125	0	strelka-varscan-mutect	UNC13A,missense_variant,p.Ala1098Val,ENST00000519716,NM_001080421.2;UNC13A,missense_variant,p.Ala1098Val,ENST00000551649,;UNC13A,missense_variant,p.Ala1098Val,ENST00000552293,;UNC13A,missense_variant,p.Ala1096Val,ENST00000550896,;UNC13A,upstream_gene_variant,,ENST00000601528,;	A	ENST00000519716	Transcript	missense_variant	3293/9838	3293/5112	1098/1703	A/V	gCc/gTc		1		-1	UNC13A	HGNC	HGNC:23150	protein_coding	YES	CCDS46013.2	ENSP00000429562	Q9UPW8		UPI00006C19A7	NM_001080421.2	deleterious(0)		27/44		Pfam_domain:PF06292,PROSITE_profiles:PS51258,hmmpanther:PTHR10480,SMART_domains:SM01145																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	96	17633116	17633116	G	A	1	0	0	0	0	1	0	0	0	17508	1203	42	3		3	UNC13A	19	17633116	Missense_Mutation	SNP	G	C3N-02380_TP		17633116	40984500	34	30814											
PSG2	0	.	GRCh38	chr19	43081137	43081137	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccagtaagattctggggCaaattgtggacaagtagaag	14	9	13	5	0	1	2	0	0	1	2	1	3	1	3	1	3	1	3	1	3	6	5	rs148608529		C3N-02380_TP	C3N-02380_NB	C	C																c.174G>T	p.Leu58Phe	p.L58F	ENST00000406487	2/6	226	207	19	257	257	0	varscan-mutect	PSG2,missense_variant,p.Leu58Phe,ENST00000406487,NM_031246.3;CTC-490G23.6,intron_variant,,ENST00000635495,;PSG2,intron_variant,,ENST00000593482,;PSG2,downstream_gene_variant,,ENST00000491995,;	A	ENST00000406487	Transcript	missense_variant	273/1538	174/1008	58/335	L/F	ttG/ttT	rs148608529	1		-1	PSG2	HGNC	HGNC:9519	protein_coding	YES	CCDS12616.1	ENSP00000385706	P11465	A0A024R0M4	UPI000013CCF5	NM_031246.3	deleterious(0)		2/6		Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs148608529	.												A	3	1	96	43081137	43081137	C	A	1	0	0	0	0	1	0	0	0	12806	709	25	2		2	PSG2	19	43081137	Missense_Mutation	SNP	C	C3N-02380_TP	25448021	43081137	15536479	35	30815											
PHF20	0	.	GRCh38	chr20	35863161	35863161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccttaaagacagaaaagcGacccaagcagcctgataaag	18	4	8	11	1	0	3	0	1	0	2	0	4	0	3	3	0	3	1	3	0	7	2			C3N-02380_TP	C3N-02380_NB	G	G																c.569G>T	p.Arg190Leu	p.R190L	ENST00000374012	6/18	131	118	13	176	176	0	strelka-varscan-mutect	PHF20,missense_variant,p.Arg190Leu,ENST00000374012,NM_016436.4;PHF20,missense_variant,p.Arg190Leu,ENST00000339089,;PHF20,missense_variant,p.Arg190Leu,ENST00000374000,;PHF20,missense_variant,p.Arg83Leu,ENST00000449988,;PHF20,non_coding_transcript_exon_variant,,ENST00000481202,;PHF20,non_coding_transcript_exon_variant,,ENST00000461122,;PHF20,non_coding_transcript_exon_variant,,ENST00000486408,;PHF20,non_coding_transcript_exon_variant,,ENST00000480940,;PHF20,non_coding_transcript_exon_variant,,ENST00000496305,;PHF20,intron_variant,,ENST00000495338,;	T	ENST00000374012	Transcript	missense_variant	698/5922	569/3039	190/1012	R/L	cGa/cTa	COSM4713973	1		1	PHF20	HGNC	HGNC:16098	protein_coding	YES	CCDS13268.1	ENSP00000363124	Q9BVI0		UPI000006E61B	NM_016436.4	deleterious(0.01)		6/18		Pfam_domain:PF12618,hmmpanther:PTHR15856,hmmpanther:PTHR15856:SF27											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	96	35863161	35863161	G	T	1	0	0	0	0	1	0	0	0	11917	1058	37	1		1	PHF20	20	35863161	Missense_Mutation	SNP	G	C3N-02380_TP		35863161	28581006	36	30816											
EYA2	0	.	GRCh38	chr20	47172863	47172863	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacctacaagaacaacgtTggtggtgagtactgtgagcc	13	9	11	8	1	0	3	0	2	0	1	0	3	0	3	2	2	6	2	2	2	7	4	novel		C3N-02380_TP	C3N-02380_NB	T	T																c.1194T>C	p.=	p.V398V	ENST00000327619	12/16	81	73	8	65	65	0	varscan-mutect	EYA2,synonymous_variant,p.=,ENST00000327619,NM_005244.4;EYA2,synonymous_variant,p.=,ENST00000611592,;EYA2,synonymous_variant,p.=,ENST00000357410,NM_172110.3;EYA2,synonymous_variant,p.=,ENST00000497062,;EYA2,synonymous_variant,p.=,ENST00000317304,;	C	ENST00000327619	Transcript	synonymous_variant	1568/2702	1194/1617	398/538	V	gtT/gtC		1		1	EYA2	HGNC	HGNC:3520	protein_coding	YES	CCDS13403.1	ENSP00000333640	O00167		UPI000012A3B4	NM_005244.4			12/16		hmmpanther:PTHR10190:SF7,hmmpanther:PTHR10190,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01658																	LOW	1	SNV	2			1										PASS		.	.												C	2	2	96	47172863	47172863	T	C	1	0	0	0	0	0	0	0	1	5197	1826	63	5		5	EYA2	20	47172863	Silent	SNP	T	C3N-02380_TP	11309702	47172863	17271304	37	30817											
CYP24A1	0	.	GRCh38	chr20	54171657	54171657	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactccggacccgctgccAgtcttccccttccctgtgag	4	9	10	18	2	1	1	0	1	1	0	4	2	4	2	6	2	1	2	6	2	0	2	rs748060893		C3N-02380_TP	C3N-02380_NB	A	A																c.463T>A	p.Trp155Arg	p.W155R	ENST00000216862	3/12	715	655	60	552	552	0	strelka-varscan-mutect	CYP24A1,missense_variant,p.Trp155Arg,ENST00000216862,NM_000782.4;CYP24A1,missense_variant,p.Trp155Arg,ENST00000395955,NM_001128915.1;CYP24A1,missense_variant,p.Trp13Arg,ENST00000395954,;CYP24A1,downstream_gene_variant,,ENST00000472970,;	T	ENST00000216862	Transcript	missense_variant	857/3262	463/1545	155/514	W/R	Tgg/Agg	rs748060893	1		-1	CYP24A1	HGNC	HGNC:2602	protein_coding	YES	CCDS33491.1	ENSP00000216862	Q07973		UPI00001281B8	NM_000782.4	deleterious(0)		3/12		hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF5,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		rs748060893	.												T	3	4	96	54171657	54171657	A	T	1	0	0	0	0	1	0	0	0	3957	188	7	4		4	CYP24A1	20	54171657	Missense_Mutation	SNP	A	C3N-02380_TP	6998794	54171657	10272510	38	30818											
SUSD2	0	.	GRCh38	chr22	24187831	24187831	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccagcgtcgcatgcagAgcctgcagccaggtgagggc	8	5	15	13	2	0	2	0	1	0	1	1	2	0	2	3	2	6	4	3	2	0	0	novel		C3N-02380_TP	C3N-02380_NB	A	A																c.2152A>T	p.Ser718Cys	p.S718C	ENST00000358321	12/15	93	84	9	101	101	0	strelka-varscan-mutect	SUSD2,missense_variant,p.Ser718Cys,ENST00000358321,NM_019601.3;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,;	T	ENST00000358321	Transcript	missense_variant	2413/3404	2152/2469	718/822	S/C	Agc/Tgc		1		1	SUSD2	HGNC	HGNC:30667	protein_coding	YES	CCDS13824.1	ENSP00000351075	Q9UGT4	A0A140VJW3	UPI000006CC92	NM_019601.3	deleterious(0.03)		12/15		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF43																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	96	24187831	24187831	A	T	1	0	0	0	0	1	0	0	0	15793	304	11	4		4	SUSD2	22	24187831	Missense_Mutation	SNP	A	C3N-02380_TP		24187831	26630637	39	30819											
NIPSNAP1	0	.	GRCh38	chr22	29569274	29569274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcatccaggtgaagcttggGcagcacagcctccctgtggg	7	8	13	13	0	1	1	1	1	0	0	3	1	3	1	3	3	3	3	3	3	1	1	novel		C3N-02380_TP	C3N-02380_NB	G	G																c.286C>G	p.Pro96Ala	p.P96A	ENST00000216121	4/10	519	456	63	479	479	0	strelka-varscan-mutect	NIPSNAP1,missense_variant,p.Pro96Ala,ENST00000216121,NM_003634.3,NM_001202502.1;NIPSNAP1,missense_variant,p.Pro113Ala,ENST00000415100,;NIPSNAP1,5_prime_UTR_variant,,ENST00000437094,;NIPSNAP1,missense_variant,p.Pro96Ala,ENST00000455496,;NIPSNAP1,downstream_gene_variant,,ENST00000496944,;	C	ENST00000216121	Transcript	missense_variant	541/2237	286/855	96/284	P/A	Ccc/Gcc		1		-1	NIPSNAP1	HGNC	HGNC:7827	protein_coding	YES	CCDS13860.1	ENSP00000216121	Q9BPW8		UPI00001303FF	NM_003634.3,NM_001202502.1	deleterious(0.05)		4/10		Gene3D:3.30.70.900,hmmpanther:PTHR21017,hmmpanther:PTHR21017:SF11,Superfamily_domains:SSF54909																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	96	29569274	29569274	G	C	1	0	0	0	0	1	0	0	0	10464	1203	42	4		4	NIPSNAP1	22	29569274	Missense_Mutation	SNP	G	C3N-02380_TP	5381443	29569274	21249194	40	30820											
OSBP2	0	.	GRCh38	chr22	30695552	30695552	+	Frame_Shift_Del	DEL	A	A	-																															atggtttgctctcttactacAggtatggaagcgccagggtg																								novel		C3N-02380_TP	C3N-02380_NB	A	A																c.643delA	p.Arg215GlufsTer31	p.R215Efs*31	ENST00000332585	1/14	97	90	7	100	100	0	sindel-varindel-pindel	OSBP2,frameshift_variant,p.Arg215GlufsTer31,ENST00000332585,NM_030758.3;OSBP2,frameshift_variant,p.Arg215GlufsTer31,ENST00000446658,NM_001282739.1;OSBP2,intron_variant,,ENST00000403222,;OSBP2,intron_variant,,ENST00000407373,;OSBP2,intron_variant,,ENST00000438716,NM_001282738.1;	-	ENST00000332585	Transcript	frameshift_variant,splice_region_variant	747/4340	643/2751	215/916	R/X	Aga/ga		1		1	OSBP2	HGNC	HGNC:8504	protein_coding	YES	CCDS43002.1	ENSP00000332576	Q969R2		UPI0000161E15	NM_030758.3			1/14		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF51,SMART_domains:SM00233,Superfamily_domains:SSF50729																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	96	30695552	30695552	A	-	1	0	1	0	1	0	0	0	0	11340	202	7	0		0	OSBP2	22	30695552	Frame_Shift_Del	DEL	A	C3N-02380_TP	1126278	30695552	20122916	41	30821											
CYB5R3	0	.	GRCh38	chr22	42630944	42630944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggtgtatagggccggaCgaccaggtttccatcaattc	9	10	13	9	2	1	0	1	0	0	0	3	3	2	1	3	4	0	2	3	4	3	4			C3N-02380_TP	C3N-02380_NB	C	C																c.370G>A	p.Val124Ile	p.V124I	ENST00000361740	4/9	356	315	41	324	324	0	strelka-varscan-mutect	CYB5R3,missense_variant,p.Val124Ile,ENST00000361740,NM_001171660.1;CYB5R3,missense_variant,p.Val68Ile,ENST00000407623,NM_001129819.2,NM_007326.4;CYB5R3,missense_variant,p.Val91Ile,ENST00000352397,NM_000398.6;CYB5R3,missense_variant,p.Val68Ile,ENST00000407332,;CYB5R3,missense_variant,p.Val68Ile,ENST00000402438,NM_001171661.1;CYB5R3,missense_variant,p.Val68Ile,ENST00000438270,;CYB5R3,non_coding_transcript_exon_variant,,ENST00000470741,;CYB5R3,downstream_gene_variant,,ENST00000466276,;	T	ENST00000361740	Transcript	missense_variant	370/2938	370/1005	124/334	V/I	Gtc/Atc	COSM5015737,COSM5015738	1		-1	CYB5R3	HGNC	HGNC:2873	protein_coding	YES	CCDS54535.1	ENSP00000354468	P00387		UPI00019150F6	NM_001171660.1	tolerated(1)		4/9		Gene3D:2.40.30.10,Pfam_domain:PF00970,PROSITE_profiles:PS51384,hmmpanther:PTHR19370,hmmpanther:PTHR19370:SF121,Superfamily_domains:SSF63380											1,1						MODERATE	1	SNV	2		1,1	1										PASS		rs1362518180	.												T	3	4	96	42630944	42630944	C	T	1	0	0	0	0	1	0	0	0	3932	536	19	1		1	CYB5R3	22	42630944	Missense_Mutation	SNP	C	C3N-02380_TP	11935392	42630944	8187524	42	30822											
OR6K2	0	.	GRCh38	chr1	158700206	158700206	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggggtgtgataaagccacaAacacagcaacttaaagtcag	17	6	10	8	0	1	1	1	1	0	0	1	1	1	1	1	2	4	1	1	2	6	2	novel		C3N-02421_TP	C3N-02421_NB	A	A																c.447T>C	p.=	p.V149V	ENST00000359610	1/1	115	91	24	69	69	0	strelka-varscan-mutect	OR6K2,synonymous_variant,p.=,ENST00000359610,NM_001005279.1;OR6K1P,upstream_gene_variant,,ENST00000456766,;	G	ENST00000359610	Transcript	synonymous_variant	447/975	447/975	149/324	V	gtT/gtC		1		-1	OR6K2	HGNC	HGNC:15029	protein_coding	YES	CCDS30902.1	ENSP00000352626	Q8NGY2	A0A126GV58	UPI000004B208	NM_001005279.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF68,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												G	2	3	97	158700206	158700206	A	G	1	0	0	0	0	0	0	0	1	11271	1	1	5		5	OR6K2	1	158700206	Silent	SNP	A	C3N-02421_TP		158700206	90256216	1	30823											
OR6K6	0	.	GRCh38	chr1	158755094	158755094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgtatttctttatcagtgtCctctccttcctggagatctg	5	19	7	10	0	4	1	1	0	3	1	7	2	6	1	3	1	0	1	3	1	2	6	novel		C3N-02421_TP	C3N-02421_NB	C	C																c.279C>T	p.=	p.V93V	ENST00000368144	1/1	270	234	36	172	172	0	strelka-varscan-mutect	OR6K6,synonymous_variant,p.=,ENST00000368144,NM_001005184.1;	T	ENST00000368144	Transcript	synonymous_variant	375/1172	279/1032	93/343	V	gtC/gtT		1		1	OR6K6	HGNC	HGNC:15033	protein_coding	YES	CCDS30904.1	ENSP00000357126	Q8NGW6		UPI000015F229	NM_001005184.1			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF132,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		.	.												T	2	4	97	158755094	158755094	C	T	1	0	0	0	0	0	0	0	1	11273	842	30	3		3	OR6K6	1	158755094	Silent	SNP	C	C3N-02421_TP	54888	158755094	90201328	2	30824											
USH2A	0	.	GRCh38	chr1	216325353	216325353	+	Frame_Shift_Del	DEL	A	A	-																															gaaatagtcactccttgattAagctgtgtaatgtttgtaaa																								novel		C3N-02421_TP	C3N-02421_NB	A	A																c.1095delT	p.Asn366IlefsTer4	p.N366Ifs*4	ENST00000307340	6/72	206	157	49	176	176	0	sindel-varindel-pindel	USH2A,frameshift_variant,p.Asn366IlefsTer4,ENST00000307340,NM_206933.2;USH2A,frameshift_variant,p.Asn366IlefsTer4,ENST00000366942,NM_007123.5;	-	ENST00000307340	Transcript	frameshift_variant	1482/18883	1095/15609	365/5202	L/X	ctT/ct		1		-1	USH2A	HGNC	HGNC:12601	protein_coding	YES	CCDS31025.1	ENSP00000305941	O75445		UPI000034E5B6	NM_206933.2			6/72		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF274,SMART_domains:SM00136																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	97	216325353	216325353	A	-	1	0	1	0	1	0	0	0	0	17570	349	13	0		0	USH2A	1	216325353	Frame_Shift_Del	DEL	A	C3N-02421_TP	57570259	216325353	32631069	3	30825											
STAB1	0	.	GRCh38	chr3	52512907	52512907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagtccgtcagctgagccCcgaggaccgagctttctggc	6	8	13	14	3	2	1	1	1	1	0	3	4	3	2	4	2	4	3	4	2	0	1	novel		C3N-02421_TP	C3N-02421_NB	C	C																c.3107C>T	p.Pro1036Leu	p.P1036L	ENST00000321725	29/69	132	108	24	153	153	0	strelka-varscan-mutect	STAB1,missense_variant,p.Pro1036Leu,ENST00000321725,NM_015136.2;STAB1,upstream_gene_variant,,ENST00000461325,;STAB1,downstream_gene_variant,,ENST00000481607,;STAB1,downstream_gene_variant,,ENST00000484850,;	T	ENST00000321725	Transcript	missense_variant	3183/7928	3107/7713	1036/2570	P/L	cCc/cTc		1		1	STAB1	HGNC	HGNC:18628	protein_coding	YES	CCDS33768.1	ENSP00000312946	Q9NY15		UPI0000140C12	NM_015136.2	tolerated(0.31)		29/69		Gene3D:2.30.180.10,Pfam_domain:PF02469,PROSITE_profiles:PS50213,hmmpanther:PTHR24038,hmmpanther:PTHR24038:SF2,SMART_domains:SM00554,Superfamily_domains:SSF82153																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	97	52512907	52512907	C	T	1	0	0	0	0	1	0	0	0	15615	623	22	3		3	STAB1	3	52512907	Missense_Mutation	SNP	C	C3N-02421_TP		52512907	145782652	4	30826											
DNAH12	0	.	GRCh38	chr3	57433418	57433418	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctatccacaaagtgtcAataggaccatcaaatacaac	16	9	4	12	0	3	0	2	0	1	0	5	1	4	1	2	1	2	0	2	1	7	3	novel		C3N-02421_TP	C3N-02421_NB	A	A																c.4929T>A	p.=	p.I1643I	ENST00000495027	32/74	204	171	33	183	183	0	strelka-varscan-mutect	DNAH12,synonymous_variant,p.=,ENST00000495027,NM_001291661.1;DNAH12,synonymous_variant,p.=,ENST00000351747,;	T	ENST00000495027	Transcript	synonymous_variant	5110/12146	4929/11883	1643/3960	I	atT/atA		1		-1	DNAH12	HGNC	HGNC:2943	protein_coding			ENSP00000418137		E9PG32	UPI0004620994	NM_001291661.1			32/74		Gene3D:3.40.50.300,Pfam_domain:PF07728,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF255,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	97	57433418	57433418	A	T	1	0	0	0	0	0	0	0	1	4414	126	5	4		4	DNAH12	3	57433418	Silent	SNP	A	C3N-02421_TP	4920511	57433418	140862141	5	30827											
FOXL2	0	.	GRCh38	chr3	138946444	138946444	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgccagcccttcttattCttctcgtagaacgggaactt	7	16	7	11	2	3	1	0	0	3	1	4	2	3	2	2	1	4	1	2	1	4	8	novel		C3N-02421_TP	C3N-02421_NB	C	C																c.279G>C	p.Lys93Asn	p.K93N	ENST00000330315	1/1	329	261	68	338	338	0	strelka-varscan	FOXL2,missense_variant,p.Lys93Asn,ENST00000330315,NM_023067.3;FOXL2NB,upstream_gene_variant,,ENST00000383165,NM_001040061.2;LINC01391,upstream_gene_variant,,ENST00000495287,;LINC01391,upstream_gene_variant,,ENST00000483650,;LINC01391,upstream_gene_variant,,ENST00000477059,;FOXL2NB,upstream_gene_variant,,ENST00000498709,;FOXL2NB,upstream_gene_variant,,ENST00000470680,;	G	ENST00000330315	Transcript	missense_variant	697/2917	279/1131	93/376	K/N	aaG/aaC		1		-1	FOXL2	HGNC	HGNC:1092	protein_coding	YES	CCDS3105.1	ENSP00000333188	P58012	Q53ZD3	UPI0000050DB3	NM_023067.3	deleterious(0.01)		1/1		PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF177,hmmpanther:PTHR11829,Gene3D:1.10.10.10,Pfam_domain:PF00250,SMART_domains:SM00339,Superfamily_domains:SSF46785																	MODERATE		SNV				1										PASS		.	.												G	3	3	97	138946444	138946444	C	G	1	0	0	0	0	1	0	0	0	5880	912	32	4		4	FOXL2	3	138946444	Missense_Mutation	SNP	C	C3N-02421_TP	81513026	138946444	59349115	6	30828											
CRIPAK	0	.	GRCh38	chr4	1394936	1394936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcctgctcacacgtgccCatgcggagtgcccgcctgct	4	7	11	19	4	1	0	1	0	0	0	1	1	1	1	5	1	5	2	5	1	0	0	rs76728908		C3N-02421_TP	C3N-02421_NB	C	C																c.425C>G	p.Pro142Arg	p.P142R	ENST00000324803	1/1	221	204	17	232	228	4	varscan-mutect	CRIPAK,missense_variant,p.Pro142Arg,ENST00000324803,NM_175918.3;	G	ENST00000324803	Transcript	missense_variant	3385/4438	425/1341	142/446	P/R	cCa/cGa	rs76728908	1		1	CRIPAK	HGNC	HGNC:26619	protein_coding	YES	CCDS3349.1	ENSP00000323978	Q8N1N5		UPI0000070390	NM_175918.3	tolerated(0.3)		1/1		SMART_domains:SM00508																	MODERATE	1	SNV				1										PASS		rs780654446	.												G	3	3	97	1394936	1394936	C	G	1	0	0	0	0	1	0	0	0	3678	594	21	4		4	CRIPAK	4	1394936	Missense_Mutation	SNP	C	C3N-02421_TP		1394936	188819619	7	30829											
ZNF330	0	.	GRCh38	chr4	141226805	141226805	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtcttcagactgtgtcAtaaagcatgctggtgtatac	11	13	10	7	0	3	2	2	1	1	1	3	2	3	2	0	1	3	3	0	1	5	4	novel		C3N-02421_TP	C3N-02421_NB	A	A																c.250A>G	p.Ile84Val	p.I84V	ENST00000262990	5/10	231	190	41	215	215	0	strelka-varscan-mutect	ZNF330,missense_variant,p.Ile84Val,ENST00000262990,NM_014487.5,NM_001292002.1;ZNF330,missense_variant,p.Ile84Val,ENST00000512809,;ZNF330,missense_variant,p.Ile84Val,ENST00000503649,;ZNF330,missense_variant,p.Ile84Val,ENST00000512738,;ZNF330,missense_variant,p.His60Arg,ENST00000506302,;ZNF330,3_prime_UTR_variant,,ENST00000507532,;ZNF330,downstream_gene_variant,,ENST00000514826,;ZNF330,downstream_gene_variant,,ENST00000515453,;	G	ENST00000262990	Transcript	missense_variant	478/1899	250/963	84/320	I/V	Ata/Gta		1		1	ZNF330	HGNC	HGNC:15462	protein_coding	YES	CCDS3754.1	ENSP00000262990	Q9Y3S2		UPI000006E4AB	NM_014487.5,NM_001292002.1	tolerated(0.96)		5/10		Pfam_domain:PF06524,hmmpanther:PTHR13214,hmmpanther:PTHR13214:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	97	141226805	141226805	A	G	1	0	0	0	0	1	0	0	0	18420	217	8	5		5	ZNF330	4	141226805	Missense_Mutation	SNP	A	C3N-02421_TP	139831869	141226805	48987750	8	30830											
GABRG2	0	.	GRCh38	chr5	162149174	162149174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaatcgctccccaaggtctCctatgtcacagcgatggatc	10	9	9	13	2	2	0	1	0	1	0	6	3	3	1	3	2	1	1	3	2	3	1	novel		C3N-02421_TP	C3N-02421_NB	C	C																c.1109C>T	p.Ser370Phe	p.S370F	ENST00000414552	9/11	606	438	168	402	402	0	strelka-varscan	GABRG2,missense_variant,p.Ser330Phe,ENST00000356592,NM_198904.2;GABRG2,missense_variant,p.Ser370Phe,ENST00000414552,NM_198903.2;GABRG2,missense_variant,p.Ser330Phe,ENST00000361925,NM_000816.3;GABRG2,downstream_gene_variant,,ENST00000522053,;GABRG2,3_prime_UTR_variant,,ENST00000522990,;GABRG2,3_prime_UTR_variant,,ENST00000523372,;	T	ENST00000414552	Transcript	missense_variant	1334/3927	1109/1548	370/515	S/F	tCc/tTc		1		1	GABRG2	HGNC	HGNC:4087	protein_coding	YES	CCDS47333.1	ENSP00000410732	P18507		UPI00017503BD	NM_198903.2	deleterious(0)		9/11		hmmpanther:PTHR18945:SF498,hmmpanther:PTHR18945,Gene3D:1.20.58.390,Pfam_domain:PF02932,Superfamily_domains:SSF90112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	97	162149174	162149174	C	T	1	0	0	0	0	1	0	0	0	6043	855	30	3		3	GABRG2	5	162149174	Missense_Mutation	SNP	C	C3N-02421_TP		162149174	19389085	9	30831											
HIST1H2AG	0	.	GRCh38	chr6	27133109	27133121	+	Frame_Shift_Del	DEL	CTAAGGCCAAGAC	CTAAGGCCAAGAC	-																															gcagggaggcaaagcccgcgCtaaggccaagactcgctctt																								novel		C3N-02421_TP	C3N-02421_NB	CTAAGGCCAAGAC	CTAAGGCCAAGAC																c.38_50delCTAAGGCCAAGAC	p.Ala13ValfsTer43	p.A13Vfs*43	ENST00000359193	1/1	91	76	15	136	136	0	sindel-varindel-pindel	HIST1H2AG,frameshift_variant,p.Ala13ValfsTer43,ENST00000359193,NM_021064.4;HIST1H2BJ,upstream_gene_variant,,ENST00000607124,;HIST1H2BJ,upstream_gene_variant,,ENST00000606923,;HIST1H2BJ,upstream_gene_variant,,ENST00000339812,NM_021058.3;	-	ENST00000359193	Transcript	frameshift_variant	68-80/2250	38-50/393	13-17/130	AKAKT/X	gCTAAGGCCAAGACt/gt		1		1	HIST1H2AG	HGNC	HGNC:4737	protein_coding	YES	CCDS4619.1	ENSP00000352119	P0C0S8	A4FTV9	UPI0000000E01	NM_021064.4			1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23430,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620																	HIGH		deletion				1										PASS		.	.												-	7	5	97	27133109	27133109	CTAAGGCCAAGAC	-	1	0	1	0	1	0	0	0	0	7021	797	28	0		0	HIST1H2AG	6	27133109	Frame_Shift_Del	DEL	CTAAGGCCAAGAC	C3N-02421_TP		27133109	143672870	10	30832											
ZBED9	0	.	GRCh38	chr6	28575227	28575227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaaaattcagtccagtgtGatgagttgttagtttgcatc	12	14	9	6	0	1	2	1	2	0	0	3	2	2	2	1	0	1	4	1	0	3	4	novel		C3N-02421_TP	C3N-02421_NB	G	G																c.1478C>T	p.Ser493Leu	p.S493L	ENST00000452236	3/4	296	226	70	276	276	0	strelka-varscan	ZBED9,missense_variant,p.Ser493Leu,ENST00000452236,NM_052923.1;ZBED9,downstream_gene_variant,,ENST00000530247,;	A	ENST00000452236	Transcript	missense_variant	2096/4877	1478/3978	493/1325	S/L	tCa/tTa		1		-1	ZBED9	HGNC	HGNC:13851	protein_coding	YES	CCDS34355.1	ENSP00000395259	Q6R2W3		UPI00001618B7	NM_052923.1	tolerated_low_confidence(0.24)		3/4		PROSITE_profiles:PS50994,Gene3D:3.30.420.10,Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	97	28575227	28575227	G	A	1	0	0	0	0	1	0	0	0	18086	1294	45	3		3	ZBED9	6	28575227	Missense_Mutation	SNP	G	C3N-02421_TP	1442118	28575227	142230752	11	30833											
TNXB	0	.	GRCh38	chr6	32068655	32068655	+	Frame_Shift_Del	DEL	G	G	-																															tcccccaggcgaggcttgatGgggggctcgggggttgcggt																								novel		C3N-02421_TP	C3N-02421_NB	G	G																c.5955delC	p.Ile1986SerfsTer8	p.I1986Sfs*8	ENST00000375244	17/44	91	75	16	102	102	0	sindel-varindel-pindel	TNXB,frameshift_variant,p.Ile1986SerfsTer8,ENST00000375244,NM_019105.6;TNXB,3_prime_UTR_variant,,ENST00000613214,;	-	ENST00000375244	Transcript	frameshift_variant	6157/13132	5955/12735	1985/4244	P/X	ccC/cc		1		-1	TNXB	HGNC	HGNC:11976	protein_coding			ENSP00000364393	P22105	E7EPZ9	UPI0001B798E9	NM_019105.6			17/44		Low_complexity_(Seg):seg,Gene3D:2.60.40.10,SMART_domains:SM00060																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	97	32068655	32068655	G	-	1	0	1	0	1	0	0	0	0	16820	1335	47	0		0	TNXB	6	32068655	Frame_Shift_Del	DEL	G	C3N-02421_TP	3493428	32068655	138737324	12	30834											
ADGRF5	0	.	GRCh38	chr6	46859312	46859313	+	Frame_Shift_Ins	INS	-	-	CTGGGTGG																															aaacctctgttgataggtttINSctgggtggctggacttgatt																								novel		C3N-02421_TP	C3N-02421_NB	-	-																c.2583_2590dupCCACCCAG	p.Glu864AlafsTer28	p.E864Afs*28	ENST00000283296	17/21	112	95	17	100	100	0	sindel-varindel	ADGRF5,frameshift_variant,p.Glu864AlafsTer28,ENST00000283296,NM_001098518.1;ADGRF5,frameshift_variant,p.Glu864AlafsTer28,ENST00000265417,NM_015234.4;ADGRF5,downstream_gene_variant,,ENST00000498632,;	CTGGGTGG	ENST00000283296	Transcript	frameshift_variant	2879-2880/5810	2590-2591/4041	864/1346	E/ATQX	gaa/gCCACCCAGaa		1		-1	ADGRF5	HGNC	HGNC:19030	protein_coding	YES	CCDS4919.1	ENSP00000283296	Q8IZF2		UPI000007075A	NM_001098518.1			17/21		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272																	HIGH	1	insertion	1			1										PASS		.	.												CTGGGTGG	7	5	97	46859312	46859312	-	CTGGGTGG	1	0	1	1	0	0	0	0	0	367	1783	62	0		0	ADGRF5	6	46859312	Frame_Shift_Ins	INS	-	C3N-02421_TP	14790657	46859312	123946667	13	30835											
PRDM1	0	.	GRCh38	chr6	106104894	106104895	+	Frame_Shift_Del	DEL	AG	AG	-																															ctgcccaaagaatgtcccaaAgagagagtacagcgtgaaag																										C3N-02421_TP	C3N-02421_NB	AG	AG																c.740_741delAG	p.Glu247ValfsTer23	p.E247Vfs*23	ENST00000369096	5/7	164	134	30	151	151	0	sindel-varindel-pindel	PRDM1,frameshift_variant,p.Glu247ValfsTer23,ENST00000369096,NM_001198.3;PRDM1,frameshift_variant,p.Glu113ValfsTer23,ENST00000369089,NM_182907.2;PRDM1,frameshift_variant,p.Glu211ValfsTer23,ENST00000369091,;PRDM1,frameshift_variant,p.Glu126ValfsTer23,ENST00000450060,;ATG5,intron_variant,,ENST00000636437,;RP1-134E15.3,downstream_gene_variant,,ENST00000602426,;ATG5,intron_variant,,ENST00000636335,;	-	ENST00000369096	Transcript	frameshift_variant	968-969/5164	734-735/2478	245/825	K/X	aAG/a	COSM3154290,COSM3154291	1		1	PRDM1	HGNC	HGNC:9346	protein_coding	YES	CCDS5054.2	ENSP00000358092	O75626		UPI0000D49069	NM_001198.3			5/7		PIRSF_domain:PIRSF013212											1,1						HIGH	1	deletion	1	6	1,1	1										PASS		.	.												-	7	5	97	106104894	106104894	AG	-	1	0	1	0	1	0	0	0	0	12581	72	3	0		0	PRDM1	6	106104894	Frame_Shift_Del	DEL	AG	C3N-02421_TP	59245582	106104894	64701085	14	30836											
HIVEP2	0	.	GRCh38	chr6	142753652	142753652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggactcccctgacgCgcctttcttctcctcaaagc	8	9	9	15	2	3	2	1	1	2	1	5	4	4	3	4	2	1	0	4	2	2	2	novel		C3N-02421_TP	C3N-02421_NB	C	C																c.6796G>A	p.Ala2266Thr	p.A2266T	ENST00000367603	10/10	189	162	27	179	178	1	strelka-varscan-mutect	HIVEP2,missense_variant,p.Ala2266Thr,ENST00000367603,NM_006734.3;HIVEP2,missense_variant,p.Ala2266Thr,ENST00000367604,;HIVEP2,missense_variant,p.Ala2266Thr,ENST00000012134,;RP1-67K17.3,non_coding_transcript_exon_variant,,ENST00000437067,;	T	ENST00000367603	Transcript	missense_variant	7539/9723	6796/7341	2266/2446	A/T	Gcg/Acg		1		-1	HIVEP2	HGNC	HGNC:4921	protein_coding	YES	CCDS43510.1	ENSP00000356575	P31629		UPI00004708DD	NM_006734.3	tolerated(0.34)		10/10		hmmpanther:PTHR23233:SF53,hmmpanther:PTHR23233																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	97	142753652	142753652	C	T	1	0	0	0	0	1	0	0	0	7076	768	27	1		1	HIVEP2	6	142753652	Missense_Mutation	SNP	C	C3N-02421_TP	36648758	142753652	28052327	15	30837											
TNRC18	0	.	GRCh38	chr7	5351939	5351939	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtttcagagtccggggggCcgccaggcccctcttggtca	4	8	16	13	2	3	1	2	0	1	1	4	1	4	1	5	6	0	1	5	6	0	2	novel		C3N-02421_TP	C3N-02421_NB	C	C																c.5350G>C	p.Ala1784Pro	p.A1784P	ENST00000430969	17/30	319	292	27	241	241	0	strelka-varscan-mutect	TNRC18,missense_variant,p.Ala1784Pro,ENST00000399537,;TNRC18,missense_variant,p.Ala1784Pro,ENST00000430969,NM_001080495.2;TNRC18,downstream_gene_variant,,ENST00000440081,;	G	ENST00000430969	Transcript	missense_variant	5699/10562	5350/8907	1784/2968	A/P	Gcc/Ccc		1		-1	TNRC18	HGNC	HGNC:11962	protein_coding	YES	CCDS47534.1	ENSP00000395538	O15417		UPI00016632FD	NM_001080495.2	deleterious(0.01)		17/30																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	97	5351939	5351939	C	G	1	0	0	0	0	1	0	0	0	16812	739	26	4		4	TNRC18	7	5351939	Missense_Mutation	SNP	C	C3N-02421_TP		5351939	153994034	16	30838											
EGFR	0	.	GRCh38	chr7	55174774	55174791	+	In_Frame_Del	DEL	AATTAAGAGAAGCAACAT	AATTAAGAGAAGCAACAT	-																															aattcccgtcgctatcaaggAattaagagaagcaacatctc																								rs121913422		C3N-02421_TP	C3N-02421_NB	AATTAAGAGAAGCAACAT	AATTAAGAGAAGCAACAT																c.2237_2254delAATTAAGAGAAGCAACAT	p.Glu746_Ser752delinsAla	p.E746_S752delinsA	ENST00000275493	19/28	474	377	97	430	430	0	sindel-varindel	EGFR,inframe_deletion,p.Glu746_Ser752delinsAla,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Glu701_Ser707delinsAla,ENST00000454757,;EGFR,inframe_deletion,p.Glu701_Ser707delinsAla,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	-	ENST00000275493	Transcript	inframe_deletion	2414-2431/9821	2237-2254/3633	746-752/1210	ELREATS/A	gAATTAAGAGAAGCAACATct/gct	rs121913422,COSM12367	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1						MODERATE	1	deletion	1		1,1	1										PASS		.	.												-	7	5	97	55174774	55174774	AATTAAGAGAAGCAACAT	-	1	0	1	0	1	0	0	0	0	4803	246	9	0		0	EGFR	7	55174774	In_Frame_Del	DEL	AATTAAGAGAAGCAACAT	C3N-02421_TP	49822835	55174774	104171199	17	30839			1	29		2	2	19	N	C_AATTAAGAGAAGCAACAT	2.214809e-05
EGFR	0	.	GRCh38	chr7	55174792	55174792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaattaagagaagcaacatCtccgaaagccaacaaggaaa	20	4	9	8	1	1	1	0	0	1	1	2	5	1	3	2	2	4	1	2	2	8	1	rs121913464		C3N-02421_TP	C3N-02421_NB	C	C																c.2255C>T	p.Ser752Phe	p.S752F	ENST00000275493	19/28	472	362	110	379	379	0	strelka-varscan-mutect	EGFR,missense_variant,p.Ser752Phe,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ser707Phe,ENST00000454757,;EGFR,missense_variant,p.Ser707Phe,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	T	ENST00000275493	Transcript	missense_variant	2432/9821	2255/3633	752/1210	S/F	tCt/tTt	rs121913464,COSM13186,COSM4170219	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs121913464	.												T	3	4	97	55174792	55174792	C	T	1	0	0	0	0	1	0	0	0	4803	913	32	3		3	EGFR	7	55174792	Missense_Mutation	SNP	C	C3N-02421_TP	18	55174792	104171181	18	30840			1	29		2	2	19	N	C_AATTAAGAGAAGCAACAT	2.214809e-05
SNTG1	0	.	GRCh38	chr8	50656970	50656970	+	Frame_Shift_Del	DEL	C	C	-																															cctccaggacagagtgtactCcccgaccttcctggccctga																								rs747482110		C3N-02421_TP	C3N-02421_NB	C	C																c.914delC	p.Pro305ArgfsTer6	p.P305Rfs*6	ENST00000522124	14/19	76	63	13	99	99	0	sindel-varindel-pindel	SNTG1,frameshift_variant,p.Pro305ArgfsTer6,ENST00000522124,NM_018967.3;SNTG1,frameshift_variant,p.Pro305ArgfsTer6,ENST00000518864,NM_001287813.1;SNTG1,frameshift_variant,p.Pro305ArgfsTer6,ENST00000517473,NM_001287814.1;SNTG1,frameshift_variant,p.Pro305ArgfsTer6,ENST00000520825,;SNTG1,frameshift_variant,p.Pro79ArgfsTer6,ENST00000524004,;	-	ENST00000522124	Transcript	frameshift_variant	1572/3504	911/1554	304/517	S/X	tCc/tc	rs747482110,COSM351799,COSM351800	1		1	SNTG1	HGNC	HGNC:13740	protein_coding	YES	CCDS6147.1	ENSP00000429842	Q9NSN8	A0A024R7Y0	UPI000004A0DD	NM_018967.3			14/19		Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF2,SMART_domains:SM00233,Superfamily_domains:SSF50729											0,1,1						HIGH	1	deletion	1	3	0,1,1	1										PASS		.	.												-	7	5	97	50656970	50656970	C	-	1	0	1	0	1	0	0	0	0	15194	855	30	0		0	SNTG1	8	50656970	Frame_Shift_Del	DEL	C	C3N-02421_TP		50656970	94481666	19	30841											
TMEM67	0	.	GRCh38	chr8	93754918	93754918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttccagcgtcggtaccatgGcgacgcgcggtggggctggg	4	7	18	12	6	0	0	0	0	0	0	2	1	1	0	2	6	2	2	2	6	1	2	novel		C3N-02421_TP	C3N-02421_NB	G	G																c.4G>A	p.Ala2Thr	p.A2T	ENST00000453321	1/28	166	121	45	100	100	0	strelka-varscan-mutect	TMEM67,missense_variant,p.Ala2Thr,ENST00000453321,NM_153704.5;TMEM67,missense_variant,p.Ala2Thr,ENST00000453906,;TMEM67,intron_variant,,ENST00000409623,NM_001142301.1;TMEM67,intron_variant,,ENST00000452276,;TMEM67,intron_variant,,ENST00000518319,;TMEM67,intron_variant,,ENST00000498673,;TMEM67,upstream_gene_variant,,ENST00000521517,;TMEM67,missense_variant,p.Ala2Thr,ENST00000455946,;TMEM67,missense_variant,p.Ala2Thr,ENST00000521222,;TMEM67,non_coding_transcript_exon_variant,,ENST00000474944,;TMEM67,non_coding_transcript_exon_variant,,ENST00000481620,;TMEM67,non_coding_transcript_exon_variant,,ENST00000475305,;TMEM67,upstream_gene_variant,,ENST00000323130,;TMEM67,upstream_gene_variant,,ENST00000521065,;	A	ENST00000453321	Transcript	missense_variant	62/4651	4/2988	2/995	A/T	Gcg/Acg		1		1	TMEM67	HGNC	HGNC:28396	protein_coding	YES	CCDS6258.2	ENSP00000389998	Q5HYA8		UPI0000D624E9	NM_153704.5	tolerated_low_confidence(0.31)		1/28		Cleavage_site_(Signalp):SignalP-TM																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	97	93754918	93754918	G	A	1	0	0	0	0	1	0	0	0	16671	1203	42	3		3	TMEM67	8	93754918	Missense_Mutation	SNP	G	C3N-02421_TP	43097948	93754918	51383718	20	30842											
DENND1A	0	.	GRCh38	chr9	123381681	123381681	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagccctggcacttgagcgGgccaggggcaacgttcggat	7	6	16	12	3	0	1	0	1	0	0	1	2	0	2	2	5	3	4	2	5	1	2	novel		C3N-02421_TP	C3N-02421_NB	G	G																c.2781C>T	p.=	p.A927A	ENST00000373624	22/22	82	60	22	53	53	0	strelka-varscan-mutect	DENND1A,synonymous_variant,p.=,ENST00000373624,NM_020946.1;CRB2,downstream_gene_variant,,ENST00000373631,NM_173689.6;DENND1A,non_coding_transcript_exon_variant,,ENST00000473039,;CRB2,downstream_gene_variant,,ENST00000460253,;	A	ENST00000373624	Transcript	synonymous_variant	2983/5010	2781/3030	927/1009	A	gcC/gcT		1		-1	DENND1A	HGNC	HGNC:29324	protein_coding	YES	CCDS35133.1	ENSP00000362727	Q8TEH3		UPI00004589D2	NM_020946.1			22/22																			LOW		SNV	5			1										PASS		.	.												A	2	1	97	123381681	123381681	G	A	1	0	0	0	0	0	0	0	1	4230	1219	43	3		3	DENND1A	9	123381681	Silent	SNP	G	C3N-02421_TP		123381681	15013036	21	30843											
LRRC8A	0	.	GRCh38	chr9	128907281	128907281	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtcatgctgatgattgcCgtcttcggggggacgctgca	6	11	14	10	4	2	2	1	2	1	0	4	3	2	3	1	3	3	3	1	3	0	2	rs75533615		C3N-02421_TP	C3N-02421_NB	C	C																c.117C>T	p.=	p.A39A	ENST00000259324	3/4	148	131	17	132	132	0	strelka-varscan-mutect	LRRC8A,synonymous_variant,p.=,ENST00000259324,NM_001127244.1;LRRC8A,synonymous_variant,p.=,ENST00000372600,NM_019594.3;LRRC8A,synonymous_variant,p.=,ENST00000372599,NM_001127245.1;	T	ENST00000259324	Transcript	synonymous_variant	640/4619	117/2433	39/810	A	gcC/gcT	rs75533615	1		1	LRRC8A	HGNC	HGNC:19027	protein_coding	YES	CCDS35155.1	ENSP00000259324	Q8IWT6	A0A024R892	UPI000004EF9E	NM_001127244.1			3/4		Transmembrane_helices:TMhelix,Pfam_domain:PF12534																	LOW	1	SNV	2			1										PASS		rs75533615	.												T	2	4	97	128907281	128907281	C	T	1	0	0	0	0	0	0	0	1	8925	639	23	1		1	LRRC8A	9	128907281	Silent	SNP	C	C3N-02421_TP	5525600	128907281	9487436	22	30844											
SETX	0	.	GRCh38	chr9	132326392	132326392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccataattgtgaaatcTgacaggcacaggtcttgaga	13	11	9	8	0	3	3	0	3	3	1	4	4	3	3	1	2	0	1	1	2	2	3	novel		C3N-02421_TP	C3N-02421_NB	T	T																c.5206A>G	p.Arg1736Gly	p.R1736G	ENST00000224140	10/26	289	240	49	245	245	0	strelka-varscan-mutect	SETX,missense_variant,p.Arg1736Gly,ENST00000224140,NM_015046.5;	C	ENST00000224140	Transcript	missense_variant	5389/11100	5206/8034	1736/2677	R/G	Aga/Gga		1		-1	SETX	HGNC	HGNC:445	protein_coding	YES	CCDS6947.1	ENSP00000224140	Q7Z333		UPI0000210D28	NM_015046.5	deleterious(0.01)		10/26		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF377																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	97	132326392	132326392	T	C	1	0	0	0	0	1	0	0	0	14420	1588	55	5		5	SETX	9	132326392	Missense_Mutation	SNP	T	C3N-02421_TP	3419111	132326392	6068325	23	30845											
PTPN6	0	.	GRCh38	chr12	6955725	6955725	+	Frame_Shift_Del	DEL	G	G	-																															gggcagcggccagagaacaaGggcaagaaccgctacaagaa																								novel		C3N-02421_TP	C3N-02421_NB	G	G																c.815delG	p.Gly272AlafsTer16	p.G272Afs*16	ENST00000456013	7/16	252	201	51	327	327	0	sindel-varindel-pindel	PTPN6,frameshift_variant,p.Gly272AlafsTer16,ENST00000456013,NM_080549.3;PTPN6,frameshift_variant,p.Gly272AlafsTer16,ENST00000318974,NM_002831.5;PTPN6,frameshift_variant,p.Gly274AlafsTer16,ENST00000399448,NM_080548.4;PTPN6,downstream_gene_variant,,ENST00000543115,;PTPN6,downstream_gene_variant,,ENST00000541698,;PTPN6,downstream_gene_variant,,ENST00000538715,;PTPN6,downstream_gene_variant,,ENST00000542462,;PTPN6,upstream_gene_variant,,ENST00000539029,;PTPN6,upstream_gene_variant,,ENST00000537533,;PTPN6,downstream_gene_variant,,ENST00000542277,;PTPN6,downstream_gene_variant,,ENST00000540740,;PTPN6,downstream_gene_variant,,ENST00000543120,;PTPN6,downstream_gene_variant,,ENST00000534900,;PTPN6,non_coding_transcript_exon_variant,,ENST00000416215,;PTPN6,downstream_gene_variant,,ENST00000543744,;PTPN6,downstream_gene_variant,,ENST00000545153,;PTPN6,downstream_gene_variant,,ENST00000539365,;PTPN6,upstream_gene_variant,,ENST00000542761,;PTPN6,downstream_gene_variant,,ENST00000538318,;PTPN6,downstream_gene_variant,,ENST00000542848,;PTPN6,downstream_gene_variant,,ENST00000536013,;PTPN6,downstream_gene_variant,,ENST00000535462,;PTPN6,downstream_gene_variant,,ENST00000536521,;	-	ENST00000456013	Transcript	frameshift_variant	1055/2389	813/1875	271/624	K/X	aaG/aa		1		1	PTPN6	HGNC	HGNC:9658	protein_coding	YES	CCDS44821.1	ENSP00000391592	P29350		UPI000014049A	NM_080549.3			7/16		Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF000929,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF65,SMART_domains:SM00194,Superfamily_domains:SSF52799																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	97	6955725	6955725	G	-	1	0	1	0	1	0	0	0	0	12946	991	35	0		0	PTPN6	12	6955725	Frame_Shift_Del	DEL	G	C3N-02421_TP		6955725	126319584	24	30846											
FSCB	0	.	GRCh38	chr14	44506822	44506822	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctttgtccaagtttgctGaagctcagaagatactctaa	11	14	7	9	0	3	3	1	1	2	2	5	3	4	3	1	0	3	3	1	0	5	4			C3N-02421_TP	C3N-02421_NB	G	G																c.166C>T	p.Gln56Ter	p.Q56*	ENST00000340446	1/1	100	90	10	93	93	0	strelka-varscan-mutect	FSCB,stop_gained,p.Gln56Ter,ENST00000340446,NM_032135.3;RP11-163M18.1,upstream_gene_variant,,ENST00000557465,;RP11-163M18.1,upstream_gene_variant,,ENST00000556228,;RP11-163M18.1,upstream_gene_variant,,ENST00000555433,;	A	ENST00000340446	Transcript	stop_gained	458/2938	166/2478	56/825	Q/*	Cag/Tag	COSM4990685	1		-1	FSCB	HGNC	HGNC:20494	protein_coding	YES	CCDS9679.1	ENSP00000344579	Q5H9T9		UPI00001FD466	NM_032135.3			1/1		hmmpanther:PTHR36135											1						HIGH		SNV			1	1										PASS		.	.												A	4	1	97	44506822	44506822	G	A	1	0	0	0	0	0	1	0	0	5939	1299	45	3		3	FSCB	14	44506822	Nonsense_Mutation	SNP	G	C3N-02421_TP		44506822	62536896	25	30847											
BRF1	0	.	GRCh38	chr14	105217612	105217612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcctccttcgtgacagcttCctggcactggcgctatgctc	4	12	10	15	2	0	1	0	1	0	0	5	1	3	1	3	2	2	4	3	2	1	3	novel		C3N-02421_TP	C3N-02421_NB	C	C																c.1704G>A	p.=	p.R568R	ENST00000547530	15/18	245	192	53	219	219	0	strelka-varscan-mutect	BRF1,synonymous_variant,p.=,ENST00000392557,NM_145685.2;BRF1,synonymous_variant,p.=,ENST00000547530,NM_001519.3;BRF1,synonymous_variant,p.=,ENST00000379937,NM_001242788.1;BRF1,synonymous_variant,p.=,ENST00000446501,NM_001242789.1;BRF1,synonymous_variant,p.=,ENST00000440513,NM_001242786.1;BRF1,synonymous_variant,p.=,ENST00000327359,NM_001242787.1;BRF1,intron_variant,,ENST00000619151,;BRF1,intron_variant,,ENST00000379932,;BRF1,intron_variant,,ENST00000551787,;BRF1,downstream_gene_variant,,ENST00000549655,;BRF1,downstream_gene_variant,,ENST00000552127,;BRF1,non_coding_transcript_exon_variant,,ENST00000549044,;BRF1,non_coding_transcript_exon_variant,,ENST00000547374,;BRF1,non_coding_transcript_exon_variant,,ENST00000635152,;BRF1,downstream_gene_variant,,ENST00000547562,;BRF1,upstream_gene_variant,,ENST00000546997,;BRF1,downstream_gene_variant,,ENST00000547052,;	T	ENST00000547530	Transcript	synonymous_variant	1763/3358	1704/2034	568/677	R	agG/agA		1		-1	BRF1	HGNC	HGNC:11551	protein_coding	YES	CCDS10001.1	ENSP00000448387	Q92994	F8VS36	UPI0000136C55	NM_001519.3			15/18																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	97	105217612	105217612	C	T	1	0	0	0	0	0	0	0	1	1680	854	30	3		3	BRF1	14	105217612	Silent	SNP	C	C3N-02421_TP	60710790	105217612	1826106	26	30848											
ATP10A	0	.	GRCh38	chr15	25694921	25694921	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacggagcggcactgctTggcaaggaagaggaatttgt	11	7	17	6	2	0	1	0	0	0	1	0	6	0	5	0	6	2	3	0	6	3	2	rs139727745		C3N-02421_TP	C3N-02421_NB	T	T																c.2986A>C	p.Lys996Gln	p.K996Q	ENST00000356865	14/21	222	188	34	284	283	1	strelka-varscan-mutect	ATP10A,missense_variant,p.Lys996Gln,ENST00000356865,NM_024490.3;ATP10A,upstream_gene_variant,,ENST00000555756,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;	G	ENST00000356865	Transcript	missense_variant	3098/6680	2986/4500	996/1499	K/Q	Aag/Cag	rs139727745	1		-1	ATP10A	HGNC	HGNC:13542	protein_coding	YES	CCDS32178.1	ENSP00000349325	O60312		UPI0000124FAB	NM_024490.3	tolerated(0.47)		14/21		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF81,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01652																	MODERATE	1	SNV	1			1										PASS		rs139727745	.												G	3	3	97	25694921	25694921	T	G	1	0	0	0	0	1	0	0	0	1268	1821	63	5		5	ATP10A	15	25694921	Missense_Mutation	SNP	T	C3N-02421_TP		25694921	76296268	27	30849											
AMFR	0	.	GRCh38	chr16	56408097	56408097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgtggctgctcatcggcGtggtgggcgagaaggaaagc	8	6	18	9	4	1	1	1	0	0	1	2	4	1	2	1	5	2	2	1	5	2	0	novel		C3N-02421_TP	C3N-02421_NB	G	G																c.533C>T	p.Thr178Met	p.T178M	ENST00000290649	4/14	185	156	29	135	135	0	strelka-varscan-mutect	AMFR,missense_variant,p.Thr178Met,ENST00000290649,NM_001144.5;AMFR,missense_variant,p.Thr83Met,ENST00000565445,;AMFR,missense_variant,p.Thr83Met,ENST00000563664,;AMFR,upstream_gene_variant,,ENST00000492830,;AMFR,upstream_gene_variant,,ENST00000567738,;RP11-413H22.2,upstream_gene_variant,,ENST00000563090,;AMFR,non_coding_transcript_exon_variant,,ENST00000568657,;	A	ENST00000290649	Transcript	missense_variant	744/3600	533/1932	178/643	T/M	aCg/aTg		1		-1	AMFR	HGNC	HGNC:463	protein_coding	YES	CCDS10758.1	ENSP00000290649	Q9UKV5		UPI000013EDCA	NM_001144.5	deleterious(0)		4/14		hmmpanther:PTHR22763,hmmpanther:PTHR22763:SF51																	MODERATE	1	SNV	1			1										PASS		rs1316980971	.												A	3	1	97	56408097	56408097	G	A	1	0	0	0	0	1	0	0	0	670	1145	40	1		1	AMFR	16	56408097	Missense_Mutation	SNP	G	C3N-02421_TP		56408097	33930248	28	30850											
C18orf8	0	.	GRCh38	chr18	23518898	23518898	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctaattagatacgggcAgctgtatgttctcttcttga	8	16	8	9	1	2	2	0	1	2	1	4	2	3	2	1	1	2	4	1	1	4	8	novel		C3N-02421_TP	C3N-02421_NB	A	A																c.662A>G	p.Gln221Arg	p.Q221R	ENST00000269221	8/20	171	134	37	173	173	0	strelka-varscan-mutect	C18orf8,missense_variant,p.Gln221Arg,ENST00000269221,NM_013326.4;C18orf8,missense_variant,p.Gln173Arg,ENST00000590868,NM_001318709.1;C18orf8,missense_variant,p.Gln173Arg,ENST00000615148,NM_001276342.1;NPC1,intron_variant,,ENST00000591107,;NPC1,downstream_gene_variant,,ENST00000590723,;C18orf8,missense_variant,p.Gln221Arg,ENST00000590870,;C18orf8,3_prime_UTR_variant,,ENST00000589215,NM_001318708.1;C18orf8,3_prime_UTR_variant,,ENST00000589860,;C18orf8,downstream_gene_variant,,ENST00000587690,;	G	ENST00000269221	Transcript	missense_variant	772/2162	662/1974	221/657	Q/R	cAg/cGg		1		1	C18orf8	HGNC	HGNC:24326	protein_coding	YES	CCDS32803.1	ENSP00000269221	Q96DM3		UPI000013D80D	NM_013326.4	tolerated(0.29)		8/20		hmmpanther:PTHR12897,Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	97	23518898	23518898	A	G	1	0	0	0	0	1	0	0	0	1902	188	7	5		5	C18orf8	18	23518898	Missense_Mutation	SNP	A	C3N-02421_TP		23518898	56854387	29	30851											
ZNF653	0	.	GRCh38	chr19	11487133	11487133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctcctccttctcctccttCtttagcaagcacaggtcctc	5	13	6	17	0	2	0	0	0	2	0	8	0	6	0	5	2	2	3	5	2	2	4	novel		C3N-02421_TP	C3N-02421_NB	C	C																c.1197G>A	p.=	p.K399K	ENST00000293771	5/9	113	107	6	118	118	0	varscan-mutect	ZNF653,synonymous_variant,p.=,ENST00000293771,NM_138783.3;ZNF653,synonymous_variant,p.=,ENST00000592756,;ZNF653,upstream_gene_variant,,ENST00000590296,;ZNF653,upstream_gene_variant,,ENST00000589051,;ZNF653,non_coding_transcript_exon_variant,,ENST00000590548,;CTC-398G3.6,intron_variant,,ENST00000585656,;	T	ENST00000293771	Transcript	synonymous_variant	1334/2240	1197/1848	399/615	K	aaG/aaA		1		-1	ZNF653	HGNC	HGNC:25196	protein_coding	YES	CCDS12261.1	ENSP00000293771	Q96CK0		UPI000006FAFC	NM_138783.3			5/9		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1204133928	.												T	2	4	97	11487133	11487133	C	T	1	0	0	0	0	0	0	0	1	18639	912	32	3		3	ZNF653	19	11487133	Silent	SNP	C	C3N-02421_TP		11487133	47130483	30	30852											
NPHS1	0	.	GRCh38	chr19	35845400	35845400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcgatagaaggagctcacgGtttcgcggagctcggcgctg	7	7	17	10	6	1	1	1	0	0	1	3	4	1	3	0	5	2	4	0	5	2	2	novel		C3N-02421_TP	C3N-02421_NB	G	G																c.1898C>A	p.Thr633Asn	p.T633N	ENST00000378910	14/29	350	282	68	337	337	0	strelka-varscan-mutect	NPHS1,missense_variant,p.Thr633Asn,ENST00000378910,NM_004646.3;NPHS1,missense_variant,p.Thr633Asn,ENST00000353632,;NPHS1,splice_region_variant,,ENST00000585400,;NPHS1,downstream_gene_variant,,ENST00000592132,;	T	ENST00000378910	Transcript	missense_variant	1898/4276	1898/3726	633/1241	T/N	aCc/aAc		1		-1	NPHS1	HGNC	HGNC:7908	protein_coding	YES	CCDS32996.1	ENSP00000368190	O60500		UPI000004EF61	NM_004646.3	tolerated(0.11)		14/29		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF31,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	97	35845400	35845400	G	T	1	0	0	0	0	1	0	0	0	10630	1261	44	2		2	NPHS1	19	35845400	Missense_Mutation	SNP	G	C3N-02421_TP	24358267	35845400	22772216	31	30853											
CEACAM21	0	.	GRCh38	chr19	41579385	41579385	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctccatccaagccagcAgcaccacagtcacagagaag	14	3	8	16	0	1	1	1	0	0	1	3	2	3	1	5	0	4	2	5	0	2	0	novel		C3N-02421_TP	C3N-02421_NB	A	A																c.457A>T	p.Ser153Cys	p.S153C	ENST00000401445	3/7	249	234	15	231	231	0	strelka-varscan-mutect	CEACAM21,missense_variant,p.Ser25Cys,ENST00000407170,NM_001288773.2,NM_001290113.1;CEACAM21,missense_variant,p.Ser153Cys,ENST00000187608,NM_033543.5;CEACAM21,missense_variant,p.Ser153Cys,ENST00000401445,NM_001098506.3;CEACAM21,upstream_gene_variant,,ENST00000632983,;CEACAM21,non_coding_transcript_exon_variant,,ENST00000482870,;CEACAM21,synonymous_variant,p.=,ENST00000457737,;	T	ENST00000401445	Transcript	missense_variant	483/1008	457/882	153/293	S/C	Agc/Tgc		1		1	CEACAM21	HGNC	HGNC:28834	protein_coding	YES	CCDS46086.1	ENSP00000385739	Q3KPI0		UPI00005C40AA	NM_001098506.3	deleterious(0)		3/7		PROSITE_profiles:PS50835,hmmpanther:PTHR12080,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	97	41579385	41579385	A	T	1	0	0	0	0	1	0	0	0	2898	188	7	4		4	CEACAM21	19	41579385	Missense_Mutation	SNP	A	C3N-02421_TP	5733985	41579385	17038231	32	30854											
CEACAM8	0	.	GRCh38	chr19	42588883	42588883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttctttgtagtgatgttggGgataaagagcttttgtgtgt	7	18	14	2	0	1	2	0	1	1	1	1	3	1	3	0	2	1	4	0	2	3	7	novel		C3N-02421_TP	C3N-02421_NB	G	G																c.859C>T	p.Pro287Ser	p.P287S	ENST00000244336	4/6	246	208	38	250	250	0	strelka-varscan-mutect	CEACAM8,missense_variant,p.Pro287Ser,ENST00000244336,NM_001816.3;CEACAM8,intron_variant,,ENST00000599005,;LIPE-AS1,intron_variant,,ENST00000594688,;LIPE-AS1,intron_variant,,ENST00000594624,;	A	ENST00000244336	Transcript	missense_variant	961/2305	859/1050	287/349	P/S	Ccc/Tcc		1		-1	CEACAM8	HGNC	HGNC:1820	protein_coding	YES	CCDS12610.1	ENSP00000244336	P31997	Q0Z7S6	UPI00000012A3	NM_001816.3	tolerated(0.08)		4/6		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF615,hmmpanther:PTHR10489,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	97	42588883	42588883	G	A	1	0	0	0	0	1	0	0	0	2904	1232	43	3		3	CEACAM8	19	42588883	Missense_Mutation	SNP	G	C3N-02421_TP	1009498	42588883	16028733	33	30855											
NLRP2	0	.	GRCh38	chr19	54983032	54983033	+	Frame_Shift_Del	DEL	GC	GC	-																															gcagggcgcacagctgcgggGcgcgctgcggacgctgagcc																								novel		C3N-02421_TP	C3N-02421_NB	GC	GC																c.1338_1339delGC	p.Leu447AlafsTer78	p.L447Afs*78	ENST00000543010	6/13	147	120	27	154	154	0	sindel-varindel	NLRP2,frameshift_variant,p.Leu447AlafsTer78,ENST00000543010,NM_001174081.1;NLRP2,frameshift_variant,p.Leu447AlafsTer78,ENST00000448584,NM_017852.3;NLRP2,frameshift_variant,p.Leu425AlafsTer78,ENST00000537859,NM_001174082.1;NLRP2,frameshift_variant,p.Leu444AlafsTer78,ENST00000263437,;NLRP2,frameshift_variant,p.Leu425AlafsTer78,ENST00000339757,;NLRP2,frameshift_variant,p.Leu423AlafsTer78,ENST00000391721,;NLRP2,frameshift_variant,p.Leu424AlafsTer78,ENST00000427260,NM_001174083.1;NLRP2,upstream_gene_variant,,ENST00000540005,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,downstream_gene_variant,,ENST00000585500,;NLRP2,downstream_gene_variant,,ENST00000397169,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;NLRP2,upstream_gene_variant,,ENST00000381637,;	-	ENST00000543010	Transcript	frameshift_variant	1477-1478/3576	1334-1335/3189	445/1062	G/X	gGC/g		1		1	NLRP2	HGNC	HGNC:22948	protein_coding	YES	CCDS12913.1	ENSP00000445135	Q9NX02		UPI000004C0CC	NM_001174081.1			6/13		hmmpanther:PTHR24106:SF129,hmmpanther:PTHR24106																	HIGH	1	deletion	1	4		1										PASS		.	.												-	7	5	97	54983032	54983032	GC	-	1	0	1	0	1	0	0	0	0	10514	1203	42	0		0	NLRP2	19	54983032	Frame_Shift_Del	DEL	GC	C3N-02421_TP	12394149	54983032	3634584	34	30856											
ANKRD60	0	.	GRCh38	chr20	58218771	58218771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcagccacatgcaggggtgtCctgcccaggggggatctgct	6	7	16	12	0	1	0	0	0	1	0	2	1	2	1	3	5	4	3	3	5	0	0	novel		C3N-02421_TP	C3N-02421_NB	C	C																c.762G>C	p.Arg254Ser	p.R254S	ENST00000457363	4/4	88	73	15	68	68	0	strelka-varscan-mutect	ANKRD60,missense_variant,p.Arg254Ser,ENST00000457363,NM_001304369.1;	G	ENST00000457363	Transcript	missense_variant	762/1038	762/1038	254/345	R/S	agG/agC		1		-1	ANKRD60	HGNC	HGNC:16217	protein_coding	YES	CCDS77596.1	ENSP00000396747	Q9BZ19		UPI00015B3C70	NM_001304369.1	deleterious(0.02)		4/4		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR22677,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	97	58218771	58218771	C	G	1	0	0	0	0	1	0	0	0	787	854	30	4		4	ANKRD60	20	58218771	Missense_Mutation	SNP	C	C3N-02421_TP		58218771	6225396	35	30857											
LAMA5	0	.	GRCh38	chr20	62332429	62332429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggcctccgagtccaggtgGaagacagccaggtggtcctg	7	7	15	12	1	0	1	0	0	0	1	3	3	3	2	5	5	1	0	5	5	1	0	novel		C3N-02421_TP	C3N-02421_NB	G	G																c.3495C>A	p.Phe1165Leu	p.F1165L	ENST00000252999	28/80	156	148	8	160	160	0	strelka-varscan-mutect	LAMA5,missense_variant,p.Phe1165Leu,ENST00000252999,NM_005560.4;LAMA5,downstream_gene_variant,,ENST00000577688,;LAMA5,downstream_gene_variant,,ENST00000474128,;	T	ENST00000252999	Transcript	missense_variant	3562/11426	3495/11088	1165/3695	F/L	ttC/ttA		1		-1	LAMA5	HGNC	HGNC:6485	protein_coding	YES	CCDS33502.1	ENSP00000252999	O15230		UPI0000161FDC	NM_005560.4	tolerated(0.06)		28/80																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	97	62332429	62332429	G	T	1	0	0	0	0	1	0	0	0	8513	1165	41	2		2	LAMA5	20	62332429	Missense_Mutation	SNP	G	C3N-02421_TP	4113658	62332429	2111738	36	30858											
DSCAM	0	.	GRCh38	chr21	40124315	40124315	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgccttcacacccgcGggaggacctggaactggaag	8	5	14	14	3	1	0	1	0	0	0	1	4	1	4	4	4	2	1	4	4	2	1	rs372164961		C3N-02421_TP	C3N-02421_NB	G	G																c.3576C>T	p.=	p.P1192P	ENST00000400454	20/33	121	113	8	128	128	0	strelka-varscan-mutect	DSCAM,synonymous_variant,p.=,ENST00000400454,NM_001389.3,NM_001271534.1;DSCAM,synonymous_variant,p.=,ENST00000617870,;DSCAM,synonymous_variant,p.=,ENST00000404019,;	A	ENST00000400454	Transcript	synonymous_variant	4054/8552	3576/6039	1192/2012	P	ccC/ccT	rs372164961,COSM2818547	1		-1	DSCAM	HGNC	HGNC:3039	protein_coding	YES	CCDS42929.1	ENSP00000383303	O60469		UPI00000422DF	NM_001389.3,NM_001271534.1			20/33		Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265											0,1						LOW	1	SNV	1		0,1	1										PASS		rs372164961	.												A	2	1	97	40124315	40124315	G	A	1	0	0	0	0	0	0	0	1	4589	1103	39	1		1	DSCAM	21	40124315	Silent	SNP	G	C3N-02421_TP		40124315	6585668	37	30859											
DDX3X	0	.	GRCh38	chrX	41345483	41345484	+	Frame_Shift_Del	DEL	AG	AG	-																															tacctctgaaaacatcacacAgaaagtagtttgggtggaag																								novel		C3N-02421_TP	C3N-02421_NB	AG	AG																c.1251_1252delGA	p.Lys418SerfsTer15	p.K418Sfs*15	ENST00000399959	12/17	68	57	11	112	112	0	sindel-varindel-pindel	DDX3X,frameshift_variant,p.Lys418SerfsTer15,ENST00000399959,NM_001356.4,NM_001193416.2;DDX3X,frameshift_variant,p.Lys402SerfsTer15,ENST00000457138,NM_001193417.2;DDX3X,frameshift_variant,p.Lys418SerfsTer15,ENST00000629496,;DDX3X,frameshift_variant,p.Lys418SerfsTer15,ENST00000625837,;DDX3X,frameshift_variant,p.Lys418SerfsTer15,ENST00000626301,;DDX3X,intron_variant,,ENST00000441189,;DDX3X,upstream_gene_variant,,ENST00000611968,;DDX3X,downstream_gene_variant,,ENST00000631641,;RN7SL15P,downstream_gene_variant,,ENST00000582825,;DDX3X,non_coding_transcript_exon_variant,,ENST00000542215,;DDX3X,downstream_gene_variant,,ENST00000615313,;DDX3X,downstream_gene_variant,,ENST00000611546,;DDX3X,downstream_gene_variant,,ENST00000622198,;DDX3X,frameshift_variant,p.Lys418SerfsTer15,ENST00000629785,;DDX3X,frameshift_variant,p.Lys418SerfsTer15,ENST00000478993,;DDX3X,frameshift_variant,p.Lys418SerfsTer15,ENST00000630255,;DDX3X,frameshift_variant,p.Lys418SerfsTer15,ENST00000630858,;DDX3X,frameshift_variant,p.Lys418SerfsTer15,ENST00000630370,;DDX3X,upstream_gene_variant,,ENST00000616050,;DDX3X,downstream_gene_variant,,ENST00000615742,;	-	ENST00000399959	Transcript	frameshift_variant	2105-2106/5399	1250-1251/1989	417/662	Q/X	cAG/c		1		1	DDX3X	HGNC	HGNC:2745	protein_coding	YES	CCDS43931.1	ENSP00000382840	O00571		UPI000013CB6D	NM_001356.4,NM_001193416.2			12/17		PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF332,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	97	41345483	41345483	AG	-	1	0	1	0	1	0	0	0	0	4161	188	7	0		0	DDX3X	23	41345483	Frame_Shift_Del	DEL	AG	C3N-02421_TP		41345483	114695412	38	30860											
PER3	0	.	GRCh38	chr1	7827723	7827723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacttcgagaagcagctcaCccttgcagttaaacttactt	11	13	6	11	1	1	1	1	0	0	1	2	2	1	1	1	0	6	4	1	0	5	6	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.2794C>A	p.Pro932Thr	p.P932T	ENST00000613533	18/22	217	171	46	234	233	1	strelka-varscan-mutect	PER3,missense_variant,p.Pro932Thr,ENST00000613533,NM_001289862.1;PER3,missense_variant,p.Pro932Thr,ENST00000377532,;PER3,missense_variant,p.Pro932Thr,ENST00000614998,NM_001289861.1,NM_001289863.1,NM_001289864.1;PER3,missense_variant,p.Pro924Thr,ENST00000361923,NM_016831.2;RP3-467L1.4,upstream_gene_variant,,ENST00000451646,;	A	ENST00000613533	Transcript	missense_variant	3058/6318	2794/3633	932/1210	P/T	Ccc/Acc		1		1	PER3	HGNC	HGNC:8847	protein_coding	YES	CCDS72695.1	ENSP00000482093	P56645		UPI00003664CA	NM_001289862.1	deleterious(0.01)		18/22		hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	98	7827723	7827723	C	A	1	0	0	0	0	1	0	0	0	11819	507	18	2		2	PER3	1	7827723	Missense_Mutation	SNP	C	C3N-02422_TP		7827723	241128699	1	30861											
RERE	0	.	GRCh38	chr1	8656283	8656283	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttgtctttgtctttgtcTttgtccgctgtcatgattcg	2	22	8	9	2	5	1	1	1	4	0	7	1	6	1	1	0	0	1	1	0	0	5			C3N-02422_TP	C3N-02422_NB	T	T																c.15A>G	p.=	p.K5K	ENST00000337907	3/24	113	106	7	94	94	0	varscan-mutect	RERE,synonymous_variant,p.=,ENST00000337907,NM_012102.3;RERE,synonymous_variant,p.=,ENST00000400908,NM_001042681.1;RERE,synonymous_variant,p.=,ENST00000400907,;RERE,synonymous_variant,p.=,ENST00000468247,;RERE,non_coding_transcript_exon_variant,,ENST00000480342,;	C	ENST00000337907	Transcript	synonymous_variant	650/8026	15/4701	5/1566	K	aaA/aaG	COSM4242522	1		-1	RERE	HGNC	HGNC:9965	protein_coding	YES	CCDS95.1	ENSP00000338629	Q9P2R6	A0A024R4E9	UPI00001419CC	NM_012102.3			3/24		Low_complexity_(Seg):seg											1						LOW	1	SNV	1		1	1										PASS		.	.												C	2	2	98	8656283	8656283	T	C	1	0	0	0	0	0	0	0	1	13401	1606	56	5		5	RERE	1	8656283	Silent	SNP	T	C3N-02422_TP	828560	8656283	240300139	2	30862											
NBPF3	0	.	GRCh38	chr1	21468693	21468693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcttctccccagtccctGgccccacctcttctgccaca	4	11	6	20	0	4	0	0	0	4	0	6	0	5	0	7	1	1	0	7	1	0	2	novel		C3N-02422_TP	C3N-02422_NB	G	G																c.139G>T	p.Gly47Cys	p.G47C	ENST00000318249	3/15	239	197	42	347	346	1	strelka-varscan-mutect	NBPF3,missense_variant,p.Gly47Cys,ENST00000342104,NM_001256416.2;NBPF3,missense_variant,p.Gly47Cys,ENST00000318249,NM_032264.4;NBPF3,5_prime_UTR_variant,,ENST00000619554,;NBPF3,intron_variant,,ENST00000454000,NM_001256417.2;NBPF3,upstream_gene_variant,,ENST00000469876,;NBPF3,upstream_gene_variant,,ENST00000477050,;NBPF3,3_prime_UTR_variant,,ENST00000318220,;NBPF3,3_prime_UTR_variant,,ENST00000434838,;NBPF3,3_prime_UTR_variant,,ENST00000486229,;	T	ENST00000318249	Transcript	missense_variant	314/3591	139/1902	47/633	G/C	Ggc/Tgc		1		1	NBPF3	HGNC	HGNC:25076	protein_coding	YES	CCDS216.1	ENSP00000316782	Q9H094		UPI0000037D6C	NM_032264.4	deleterious(0)		3/15																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	98	21468693	21468693	G	T	1	0	0	0	0	1	0	0	0	10212	1362	47	2		2	NBPF3	1	21468693	Missense_Mutation	SNP	G	C3N-02422_TP	12812410	21468693	227487729	3	30863											
VAV3	0	.	GRCh38	chr1	107760813	107760813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtggtactttaaaacacGttgcataggaaccacaagca	16	8	9	8	1	0	0	0	0	0	0	0	1	0	1	1	3	5	4	1	3	7	5	rs764254114		C3N-02422_TP	C3N-02422_NB	G	G																c.988C>T	p.Arg330Cys	p.R330C	ENST00000370056	10/27	107	98	9	154	154	0	strelka-varscan-mutect	VAV3,missense_variant,p.Arg330Cys,ENST00000370056,NM_006113.4;VAV3,missense_variant,p.Arg330Cys,ENST00000527011,;VAV3,missense_variant,p.Arg325Cys,ENST00000490388,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,non_coding_transcript_exon_variant,,ENST00000469325,;	A	ENST00000370056	Transcript	missense_variant	1263/4990	988/2544	330/847	R/C	Cgt/Tgt	rs764254114,COSM4020189	1		-1	VAV3	HGNC	HGNC:12659	protein_coding	YES	CCDS785.1	ENSP00000359073	Q9UKW4		UPI0000138212	NM_006113.4	deleterious(0)		10/27		PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF97,PROSITE_patterns:PS00741,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs764254114	.												A	3	1	98	107760813	107760813	G	A	1	0	0	0	0	1	0	0	0	17678	1145	40	1		1	VAV3	1	107760813	Missense_Mutation	SNP	G	C3N-02422_TP	86292120	107760813	141195609	4	30864											
CENPF	0	.	GRCh38	chr1	214644570	214644570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attacaggctattcaaggccGaaatgagagctgtgacatat	14	10	10	7	1	1	2	1	2	0	1	1	4	1	2	1	2	2	2	1	2	5	4	rs201574754		C3N-02422_TP	C3N-02422_NB	G	G																c.5000G>A	p.Arg1667Gln	p.R1667Q	ENST00000366955	13/20	20	16	4	42	42	0	strelka-varscan-mutect	CENPF,missense_variant,p.Arg1667Gln,ENST00000366955,NM_016343.3;CENPF,upstream_gene_variant,,ENST00000614578,;CENPF,upstream_gene_variant,,ENST00000467765,;	A	ENST00000366955	Transcript	missense_variant	5168/10307	5000/9345	1667/3114	R/Q	cGa/cAa	rs201574754	1		1	CENPF	HGNC	HGNC:1857	protein_coding	YES	CCDS31023.1	ENSP00000355922	P49454		UPI00001AE985	NM_016343.3	tolerated(0.72)		13/20		hmmpanther:PTHR18874																	MODERATE	1	SNV	1			1										PASS		rs201574754	.												A	3	1	98	214644570	214644570	G	A	1	0	0	0	0	1	0	0	0	2939	1058	37	1		1	CENPF	1	214644570	Missense_Mutation	SNP	G	C3N-02422_TP	106883757	214644570	34311852	5	30865											
ITSN2	0	.	GRCh38	chr2	24271871	24271871	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttttcttcctggagtcGcttttgtttttcttcttcct	1	25	6	9	1	3	0	0	0	3	0	6	1	5	1	2	1	0	3	2	1	0	10			C3N-02422_TP	C3N-02422_NB	G	G																c.2152C>T	p.Arg718Ter	p.R718*	ENST00000355123	19/40	133	124	9	215	215	0	strelka-varscan-mutect	ITSN2,stop_gained,p.Arg718Ter,ENST00000355123,NM_006277.2;ITSN2,stop_gained,p.Arg691Ter,ENST00000361999,NM_019595.3;ITSN2,stop_gained,p.Arg701Ter,ENST00000622089,;ITSN2,stop_gained,p.Arg718Ter,ENST00000406921,NM_147152.2;SCARNA21,downstream_gene_variant,,ENST00000515996,;	A	ENST00000355123	Transcript	stop_gained	2596/6300	2152/5094	718/1697	R/*	Cga/Tga	COSM1019093,COSM1592013	1		-1	ITSN2	HGNC	HGNC:6184	protein_coding	YES	CCDS1710.2	ENSP00000347244	Q9NZM3		UPI000013D415	NM_006277.2			19/40		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil											1,1						HIGH	1	SNV	1		1,1	1										PASS		rs1254470703	.												A	4	1	98	24271871	24271871	G	A	1	0	0	0	0	0	1	0	0	7833	1095	38	1		1	ITSN2	2	24271871	Nonsense_Mutation	SNP	G	C3N-02422_TP		24271871	217921658	6	30866											
LIMS2	0	.	GRCh38	chr2	127664330	127664330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggcggcgggctctgcCggtgctggcgccgccggtac	1	7	19	14	6	1	0	0	0	1	0	1	0	1	0	3	7	3	4	3	7	1	1	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.59G>A	p.Arg20Gln	p.R20Q	ENST00000324938	1/10	43	38	5	29	29	0	strelka-mutect	LIMS2,missense_variant,p.Arg20Gln,ENST00000324938,NM_017980.4;LIMS2,intron_variant,,ENST00000409455,;LIMS2,intron_variant,,ENST00000410011,NM_001161404.1;LIMS2,intron_variant,,ENST00000409808,;LIMS2,intron_variant,,ENST00000355119,NM_001161403.1;LIMS2,intron_variant,,ENST00000545738,NM_001136037.2;LIMS2,non_coding_transcript_exon_variant,,ENST00000466410,;LIMS2,non_coding_transcript_exon_variant,,ENST00000476932,;	T	ENST00000324938	Transcript	missense_variant	217/2111	59/1098	20/365	R/Q	cGg/cAg		1		-1	LIMS2	HGNC	HGNC:16084	protein_coding	YES	CCDS2147.1	ENSP00000326888	Q7Z4I7		UPI00001B5BF3	NM_017980.4	tolerated_low_confidence(0.29)		1/10		hmmpanther:PTHR24210:SF10,hmmpanther:PTHR24210																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	98	127664330	127664330	C	T	1	0	0	0	0	1	0	0	0	8712	652	23	1		1	LIMS2	2	127664330	Missense_Mutation	SNP	C	C3N-02422_TP	103392459	127664330	114529199	7	30867			1	30		2	2	24	C		4.319482e-05
LIMS2	0	.	GRCh38	chr2	127664353	127664353	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctggcgccgccggtacagCcccgacgcggccagcgcacc	5	3	14	19	7	0	0	0	0	0	0	0	1	0	0	6	3	4	3	6	3	1	1	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.36G>A	p.=	p.G12G	ENST00000324938	1/10	38	33	5	16	16	0	strelka-mutect	LIMS2,synonymous_variant,p.=,ENST00000324938,NM_017980.4;LIMS2,intron_variant,,ENST00000409455,;LIMS2,intron_variant,,ENST00000410011,NM_001161404.1;LIMS2,intron_variant,,ENST00000409808,;LIMS2,intron_variant,,ENST00000355119,NM_001161403.1;LIMS2,intron_variant,,ENST00000545738,NM_001136037.2;LIMS2,non_coding_transcript_exon_variant,,ENST00000466410,;LIMS2,non_coding_transcript_exon_variant,,ENST00000476932,;	T	ENST00000324938	Transcript	synonymous_variant	194/2111	36/1098	12/365	G	ggG/ggA		1		-1	LIMS2	HGNC	HGNC:16084	protein_coding	YES	CCDS2147.1	ENSP00000326888	Q7Z4I7		UPI00001B5BF3	NM_017980.4			1/10		Low_complexity_(Seg):seg,hmmpanther:PTHR24210:SF10,hmmpanther:PTHR24210																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	98	127664353	127664353	C	T	1	0	0	0	0	0	0	0	1	8712	726	26	3		3	LIMS2	2	127664353	Silent	SNP	C	C3N-02422_TP	23	127664353	114529176	8	30868			1	30		2	2	24	C		4.319482e-05
IL17RE	0	.	GRCh38	chr3	9907002	9907002	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgcctgaggcccgggctAttcgggtgaccatatcttca	6	11	12	12	2	2	2	1	2	1	0	3	2	2	2	3	3	2	2	3	3	2	4	novel		C3N-02422_TP	C3N-02422_NB	A	A																c.568A>G	p.Ile190Val	p.I190V	ENST00000383814	6/16	288	252	36	242	242	0	strelka-varscan-mutect	IL17RE,missense_variant,p.Ile190Val,ENST00000454190,NM_001193380.1;IL17RE,missense_variant,p.Ile190Val,ENST00000383814,NM_153480.1,NM_153481.1;IL17RE,missense_variant,p.Ile223Val,ENST00000421412,NM_153483.2;IL17RE,missense_variant,p.Ile150Val,ENST00000454992,;IL17RE,missense_variant,p.Ile112Val,ENST00000444427,;IL17RE,synonymous_variant,p.=,ENST00000383815,;IL17RE,synonymous_variant,p.=,ENST00000434065,;IL17RE,non_coding_transcript_exon_variant,,ENST00000489181,;IL17RE,downstream_gene_variant,,ENST00000461534,;IL17RE,upstream_gene_variant,,ENST00000480244,;IL17RE,upstream_gene_variant,,ENST00000483258,;	G	ENST00000383814	Transcript	missense_variant	673/2704	568/2004	190/667	I/V	Att/Gtt		1		1	IL17RE	HGNC	HGNC:18439	protein_coding	YES	CCDS2589.1	ENSP00000373325	Q8NFR9		UPI000003E87E	NM_153480.1,NM_153481.1	tolerated(0.19)		6/16		hmmpanther:PTHR15583:SF5,hmmpanther:PTHR15583,Pfam_domain:PF15037																	MODERATE	1	SNV	1			1										PASS		rs1486761584	.												G	3	3	98	9907002	9907002	A	G	1	0	0	0	0	1	0	0	0	7551	449	16	5		5	IL17RE	3	9907002	Missense_Mutation	SNP	A	C3N-02422_TP		9907002	188388557	9	30869											
TGM4	0	.	GRCh38	chr3	44911322	44911322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctgcaattgtatcttcaAgaataccctggccatccctt	9	14	6	12	0	3	1	1	0	2	1	4	1	4	1	3	1	2	2	3	1	5	5	novel		C3N-02422_TP	C3N-02422_NB	A	A																c.1829A>G	p.Lys610Arg	p.K610R	ENST00000296125	13/14	183	157	26	227	226	1	strelka-varscan-mutect	TGM4,missense_variant,p.Lys610Arg,ENST00000296125,NM_003241.3;ZDHHC3,downstream_gene_variant,,ENST00000339420,;TGM4,downstream_gene_variant,,ENST00000459830,;	G	ENST00000296125	Transcript	missense_variant	1897/3388	1829/2055	610/684	K/R	aAg/aGg		1		1	TGM4	HGNC	HGNC:11780	protein_coding	YES	CCDS2723.1	ENSP00000296125	P49221		UPI0000136CCD	NM_003241.3	tolerated(0.19)		13/14		hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF45,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000459,Pfam_domain:PF00927,Superfamily_domains:SSF49309																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	98	44911322	44911322	A	G	1	0	0	0	0	1	0	0	0	16265	72	3	5		5	TGM4	3	44911322	Missense_Mutation	SNP	A	C3N-02422_TP	35004320	44911322	153384237	10	30870											
EPHA3	0	.	GRCh38	chr3	89210016	89210016	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagctcaagttcactctaCgagactgcaatagcattcca	12	10	8	11	1	3	1	2	0	1	1	4	3	4	2	1	1	4	4	1	1	4	4	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.310C>T	p.Arg104Ter	p.R104*	ENST00000336596	3/17	148	121	27	257	257	0	strelka-varscan-mutect	EPHA3,stop_gained,p.Arg104Ter,ENST00000336596,NM_005233.5;EPHA3,stop_gained,p.Arg104Ter,ENST00000494014,;EPHA3,stop_gained,p.Arg104Ter,ENST00000452448,NM_182644.2;	T	ENST00000336596	Transcript	stop_gained	535/5809	310/2952	104/983	R/*	Cga/Tga		1		1	EPHA3	HGNC	HGNC:3387	protein_coding	YES	CCDS2922.1	ENSP00000337451	P29320	A0A140VJJ0	UPI0000163BE4	NM_005233.5			3/17		PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666,Pfam_domain:PF01404,Gene3D:2.60.120.260,SMART_domains:SM00615,Superfamily_domains:SSF49785																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	98	89210016	89210016	C	T	1	0	0	0	0	0	1	0	0	5015	528	19	1		1	EPHA3	3	89210016	Nonsense_Mutation	SNP	C	C3N-02422_TP	44298694	89210016	109085543	11	30871											
NDUFB4	0	.	GRCh38	chr3	120596370	120596370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgccaagatgtcgttccCaaagtataagccgtcgagcc	10	9	10	12	4	0	1	0	0	0	1	4	2	1	1	4	0	2	3	4	0	4	4	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.11C>T	p.Pro4Leu	p.P4L	ENST00000184266	1/3	342	271	71	223	223	0	strelka-varscan-mutect	NDUFB4,missense_variant,p.Pro4Leu,ENST00000485064,NM_001168331.1;NDUFB4,missense_variant,p.Pro4Leu,ENST00000184266,NM_004547.5;NDUFB4,missense_variant,p.Pro4Leu,ENST00000492739,;NDUFB4,missense_variant,p.Pro4Leu,ENST00000461682,;NDUFB4,missense_variant,p.Pro4Leu,ENST00000491335,;NDUFB4,upstream_gene_variant,,ENST00000496588,;	T	ENST00000184266	Transcript	missense_variant	62/671	11/390	4/129	P/L	cCa/cTa		1		1	NDUFB4	HGNC	HGNC:7699	protein_coding	YES	CCDS2999.1	ENSP00000184266	O95168		UPI000013C5EA	NM_004547.5	deleterious_low_confidence(0)		1/3		hmmpanther:PTHR15469,hmmpanther:PTHR15469:SF0																	MODERATE	1	SNV	1			1										PASS		rs1283578690	.												T	3	4	98	120596370	120596370	C	T	1	0	0	0	0	1	0	0	0	10307	594	21	3		3	NDUFB4	3	120596370	Missense_Mutation	SNP	C	C3N-02422_TP	31386354	120596370	77699189	12	30872											
TTC14	0	.	GRCh38	chr3	180602952	180602952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccaaaaaagcggatctgCtttttgcactttcctggaaa	11	13	7	10	1	2	0	0	0	2	0	4	2	3	2	2	2	3	2	2	2	4	3	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.223C>T	p.Leu75Phe	p.L75F	ENST00000296015	2/12	58	51	7	132	132	0	strelka-varscan-mutect	TTC14,missense_variant,p.Leu75Phe,ENST00000412756,NM_001042601.2;TTC14,missense_variant,p.Leu75Phe,ENST00000296015,NM_133462.3;TTC14,missense_variant,p.Leu75Phe,ENST00000382584,NM_001288582.1;TTC14,missense_variant,p.Leu75Phe,ENST00000491380,;TTC14,5_prime_UTR_variant,,ENST00000492617,;TTC14,5_prime_UTR_variant,,ENST00000495660,;CCDC39,3_prime_UTR_variant,,ENST00000473854,;RP11-496B10.3,upstream_gene_variant,,ENST00000472596,;TTC14,missense_variant,p.Leu75Phe,ENST00000465065,;TTC14,missense_variant,p.Leu75Phe,ENST00000470669,;TTC14,missense_variant,p.Leu75Phe,ENST00000462895,;	T	ENST00000296015	Transcript	missense_variant	355/2881	223/2313	75/770	L/F	Ctt/Ttt		1		1	TTC14	HGNC	HGNC:24697	protein_coding	YES	CCDS3237.1	ENSP00000296015	Q96N46		UPI00000720AE	NM_133462.3	deleterious(0)		2/12		hmmpanther:PTHR23184,hmmpanther:PTHR23184:SF9																	MODERATE	1	SNV	1			1										PASS		rs1020598792	.												T	3	4	98	180602952	180602952	C	T	1	0	0	0	0	1	0	0	0	17191	797	28	3		3	TTC14	3	180602952	Missense_Mutation	SNP	C	C3N-02422_TP	60006582	180602952	17692607	13	30873											
IGF2BP2	0	.	GRCh38	chr3	185689606	185689606	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagtagttctcaaactgatgCccgcttagcttctccatggc	8	12	9	12	1	2	1	1	1	2	0	4	2	2	1	2	1	3	4	2	1	3	4	rs748998986		C3N-02422_TP	C3N-02422_NB	C	C																c.444G>A	p.=	p.G148G	ENST00000457616	6/16	381	341	40	378	378	0	strelka-varscan-mutect	IGF2BP2,synonymous_variant,p.=,ENST00000382199,NM_006548.4;IGF2BP2,synonymous_variant,p.=,ENST00000457616,NM_001291869.1;IGF2BP2,synonymous_variant,p.=,ENST00000346192,NM_001007225.1;IGF2BP2,synonymous_variant,p.=,ENST00000421047,NM_001291875.1,NM_001291873.1,NM_001291874.1,NM_001291872.1;IGF2BP2,non_coding_transcript_exon_variant,,ENST00000461957,;IGF2BP2,non_coding_transcript_exon_variant,,ENST00000493302,;IGF2BP2,upstream_gene_variant,,ENST00000494906,;	T	ENST00000457616	Transcript	synonymous_variant	496/3426	444/1818	148/605	G	ggG/ggA	rs748998986,COSM1647626,COSM730123	1		-1	IGF2BP2	HGNC	HGNC:28867	protein_coding	YES	CCDS77870.1	ENSP00000410242		F8W930	UPI0001F77D7F	NM_001291869.1			6/16		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF93,SMART_domains:SM00360,Superfamily_domains:SSF54928											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs748998986	.												T	2	4	98	185689606	185689606	C	T	1	0	0	0	0	0	0	0	1	7480	726	26	3		3	IGF2BP2	3	185689606	Silent	SNP	C	C3N-02422_TP	5086654	185689606	12605953	14	30874											
CDKL3	0	.	GRCh38	chr5	134308430	134308430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgactttaataactctgaCtttgatctccttgggctttt	7	20	6	8	0	2	3	0	3	2	0	3	3	2	3	1	1	1	1	1	1	2	8	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.1072G>A	p.Val358Ile	p.V358I	ENST00000265334	9/13	66	59	7	98	98	0	strelka-varscan-mutect	CDKL3,missense_variant,p.Val358Ile,ENST00000521118,;CDKL3,missense_variant,p.Val358Ile,ENST00000265334,NM_001113575.1;CDKL3,missense_variant,p.Val169Ile,ENST00000523054,NM_001300853.1;CDKL3,missense_variant,p.Val358Ile,ENST00000523832,NM_016508.3;CDKL3,missense_variant,p.Ser41Asn,ENST00000521755,;CDKL3,upstream_gene_variant,,ENST00000518990,;CTD-2410N18.4,non_coding_transcript_exon_variant,,ENST00000518409,;CDKL3,3_prime_UTR_variant,,ENST00000520693,;CDKL3,3_prime_UTR_variant,,ENST00000519312,;CDKL3,3_prime_UTR_variant,,ENST00000520592,;CTD-2410N18.4,non_coding_transcript_exon_variant,,ENST00000520515,;	T	ENST00000265334	Transcript	missense_variant	1191/2130	1072/1779	358/592	V/I	Gtc/Atc		1		-1	CDKL3	HGNC	HGNC:15483	protein_coding	YES	CCDS47264.1	ENSP00000265334	Q8IVW4		UPI00000745AD	NM_001113575.1	tolerated(0.14)		9/13		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1306125569	.												T	3	4	98	134308430	134308430	C	T	1	0	0	0	0	1	0	0	0	2859	565	20	3		3	CDKL3	5	134308430	Missense_Mutation	SNP	C	C3N-02422_TP		134308430	47229829	15	30875											
PCDHB7	0	.	GRCh38	chr5	141173277	141173277	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaatattagaaagtaccactCcaggggcggcatttctccta	13	10	8	10	1	1	1	0	0	1	1	3	1	2	1	3	3	1	2	3	3	6	5	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.442C>G	p.Pro148Ala	p.P148A	ENST00000231137	1/1	105	94	11	118	118	0	strelka-varscan-mutect	PCDHB7,missense_variant,p.Pro148Ala,ENST00000231137,NM_018940.3;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.4;CH17-140K24.3,downstream_gene_variant,,ENST00000623581,;CH17-140K24.2,intron_variant,,ENST00000624192,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000624802,;CH17-140K24.4,upstream_gene_variant,,ENST00000623995,;	G	ENST00000231137	Transcript	missense_variant	659/3765	442/2382	148/793	P/A	Cca/Gca		1		1	PCDHB7	HGNC	HGNC:8692	protein_coding	YES	CCDS4249.1	ENSP00000231137	Q9Y5E2		UPI00001273E3	NM_018940.3	deleterious_low_confidence(0.05)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69,Superfamily_domains:SSF49313																	MODERATE		SNV				1										PASS		.	.												G	3	3	98	141173277	141173277	C	G	1	0	0	0	0	1	0	0	0	11634	855	30	4		4	PCDHB7	5	141173277	Missense_Mutation	SNP	C	C3N-02422_TP	6864847	141173277	40364982	16	30876											
ROS1	0	.	GRCh38	chr6	117326336	117326336	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtttttggacttccatgtGcaaacactactgcaggatcc	10	12	9	10	0	0	0	0	0	0	0	2	2	2	2	2	3	4	3	2	3	2	4	novel		C3N-02422_TP	C3N-02422_NB	G	G																c.5445C>G	p.Cys1815Trp	p.C1815W	ENST00000368508	33/43	61	53	8	138	138	0	strelka-varscan-mutect	ROS1,missense_variant,p.Cys1815Trp,ENST00000368508,NM_002944.2;ROS1,missense_variant,p.Cys1809Trp,ENST00000368507,;RP1-179P9.3,intron_variant,,ENST00000467125,;ROS1,downstream_gene_variant,,ENST00000403284,;	C	ENST00000368508	Transcript	missense_variant	5644/7435	5445/7044	1815/2347	C/W	tgC/tgG		1		-1	ROS1	HGNC	HGNC:10261	protein_coding	YES	CCDS5116.1	ENSP00000357494	P08922		UPI000013D467	NM_002944.2	deleterious(0)		33/43		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF344,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	98	117326336	117326336	G	C	1	0	0	0	0	1	0	0	0	13708	1311	46	4		4	ROS1	6	117326336	Missense_Mutation	SNP	G	C3N-02422_TP		117326336	53479643	17	30877											
TULP4	0	.	GRCh38	chr6	158503501	158503501	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaacccccagggcactctcCccccaaagccacacttggtg	10	5	8	18	0	1	1	0	0	1	1	2	1	1	1	6	2	2	1	6	2	2	1	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.3838C>A	p.Pro1280Thr	p.P1280T	ENST00000367097	13/14	101	83	18	95	94	1	strelka-varscan-mutect	TULP4,missense_variant,p.Pro1280Thr,ENST00000367097,NM_020245.4;TULP4,intron_variant,,ENST00000367094,NM_001007466.2;TULP4,downstream_gene_variant,,ENST00000613390,;	A	ENST00000367097	Transcript	missense_variant	5367/11295	3838/4632	1280/1543	P/T	Ccc/Acc		1		1	TULP4	HGNC	HGNC:15530	protein_coding	YES	CCDS34561.1	ENSP00000356064	Q9NRJ4		UPI000013CD76	NM_020245.4	deleterious_low_confidence(0)		13/14																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	98	158503501	158503501	C	A	1	0	0	0	0	1	0	0	0	17286	623	22	2		2	TULP4	6	158503501	Missense_Mutation	SNP	C	C3N-02422_TP	41177165	158503501	12302478	18	30878											
NEUROD6	0	.	GRCh38	chr7	31338860	31338860	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtagtttttggccagtcGtaaagtctctattttggaca	9	16	10	6	1	1	0	0	0	1	0	3	2	1	1	1	2	0	3	1	2	4	7			C3N-02422_TP	C3N-02422_NB	G	G																c.409C>T	p.Arg137Ter	p.R137*	ENST00000297142	2/2	410	293	117	395	395	0	strelka-varscan-mutect	NEUROD6,stop_gained,p.Arg137Ter,ENST00000297142,NM_022728.3;	A	ENST00000297142	Transcript	stop_gained	732/2131	409/1014	137/337	R/*	Cga/Tga	COSM1089130	1		-1	NEUROD6	HGNC	HGNC:13804	protein_coding	YES	CCDS5434.1	ENSP00000297142	Q96NK8	A0A090N7T3	UPI000000D77D	NM_022728.3			2/2		PROSITE_profiles:PS50888,hmmpanther:PTHR19290:SF9,hmmpanther:PTHR19290,Gene3D:4.10.280.10,Pfam_domain:PF00010,PIRSF_domain:PIRSF015618,SMART_domains:SM00353,Superfamily_domains:SSF47459											1						HIGH	1	SNV	1		1	1										PASS		rs1183382119	.												A	4	1	98	31338860	31338860	G	A	1	0	0	0	0	0	1	0	0	10388	1153	40	1		1	NEUROD6	7	31338860	Nonsense_Mutation	SNP	G	C3N-02422_TP		31338860	128007113	19	30879											
GRM8	0	.	GRCh38	chr7	126533593	126533593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgatcacaaaggtggtggCgatgattcccaatattgcaa	13	9	10	9	2	1	1	1	1	0	0	2	3	2	1	1	3	1	1	1	3	4	3	rs140162343		C3N-02422_TP	C3N-02422_NB	C	C																c.1789G>A	p.Ala597Thr	p.A597T	ENST00000339582	9/11	398	359	39	434	434	0	strelka-varscan-mutect	GRM8,missense_variant,p.Ala597Thr,ENST00000339582,NM_000845.2;GRM8,missense_variant,p.Ala597Thr,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Ala105Thr,ENST00000444921,;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,missense_variant,p.Ala597Thr,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;	T	ENST00000339582	Transcript	missense_variant	2598/4057	1789/2727	597/908	A/T	Gcc/Acc	rs140162343,COSM269282	1		-1	GRM8	HGNC	HGNC:4600	protein_coding	YES	CCDS5794.1	ENSP00000344173	O00222		UPI000012F085	NM_000845.2	tolerated(0.06)		9/11		Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs140162343	.												T	3	4	98	126533593	126533593	C	T	1	0	0	0	0	1	0	0	0	6685	768	27	1		1	GRM8	7	126533593	Missense_Mutation	SNP	C	C3N-02422_TP	95194733	126533593	32812380	20	30880											
FBXO32	0	.	GRCh38	chr8	123504656	123504656	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagggtatctccatacTgctctttccttgggtaacat	8	14	9	10	0	2	1	0	1	2	0	4	1	3	1	2	2	3	4	2	2	4	5	novel		C3N-02422_TP	C3N-02422_NB	T	T																c.926A>T	p.Gln309Leu	p.Q309L	ENST00000517956	8/9	161	136	25	209	209	0	strelka-varscan-mutect	FBXO32,missense_variant,p.Gln309Leu,ENST00000517956,NM_148177.2,NM_058229.3;FBXO32,missense_variant,p.Gln216Leu,ENST00000443022,NM_001242463.1;FBXO32,non_coding_transcript_exon_variant,,ENST00000287396,;FBXO32,non_coding_transcript_exon_variant,,ENST00000524000,;	A	ENST00000517956	Transcript	missense_variant	1118/6744	926/1068	309/355	Q/L	cAg/cTg		1		-1	FBXO32	HGNC	HGNC:16731	protein_coding	YES	CCDS6345.1	ENSP00000428205	Q969P5	A0A024R9F3	UPI0000034E28	NM_148177.2,NM_058229.3	deleterious(0)		8/9		hmmpanther:PTHR13123,hmmpanther:PTHR13123:SF6,Superfamily_domains:SSF81383																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	98	123504656	123504656	T	A	1	0	0	0	0	1	0	0	0	5605	1580	55	4		4	FBXO32	8	123504656	Missense_Mutation	SNP	T	C3N-02422_TP		123504656	21633980	21	30881											
OR1L6	0	.	GRCh38	chr9	122750596	122750596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcccacctcactgcagtagCccttttctatgggagtatta	8	13	7	13	0	2	0	1	0	1	0	3	1	3	1	3	1	2	3	3	1	4	6	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.749C>A	p.Ala250Asp	p.A250D	ENST00000304720	1/1	115	101	14	191	191	0	strelka-varscan-mutect	OR1L6,missense_variant,p.Ala286Asp,ENST00000373684,;OR1L6,missense_variant,p.Ala250Asp,ENST00000304720,NM_001004453.2;	A	ENST00000304720	Transcript	missense_variant	749/936	749/936	250/311	A/D	gCc/gAc		1		1	OR1L6	HGNC	HGNC:8218	protein_coding	YES	CCDS35130.2	ENSP00000304235		A0A0C4DFP2	UPI000003CAAE	NM_001004453.2	deleterious(0.04)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF342,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	98	122750596	122750596	C	A	1	0	0	0	0	1	0	0	0	11044	739	26	2		2	OR1L6	9	122750596	Missense_Mutation	SNP	C	C3N-02422_TP		122750596	15644121	22	30882											
URM1	0	.	GRCh38	chr9	128389405	128389405	+	Frame_Shift_Del	DEL	G	G	-																															caggcacatatagagtggctGggtaatcctccgccccactc																								novel		C3N-02422_TP	C3N-02422_NB	G	G																c.335delG	p.Gly112ValfsTer11	p.G112Vfs*11	ENST00000452446	4/4	195	173	22	188	187	1	sindel-varindel-pindel	URM1,frameshift_variant,p.Gly112ValfsTer11,ENST00000452446,NM_001135947.2;URM1,3_prime_UTR_variant,,ENST00000372850,NM_001265582.1;URM1,intron_variant,,ENST00000372853,NM_030914.3;URM1,downstream_gene_variant,,ENST00000372847,;MIR219A2,downstream_gene_variant,,ENST00000608502,;RP11-339B21.11,upstream_gene_variant,,ENST00000609303,;MIR219A2,downstream_gene_variant,,ENST00000385220,;MIR219B,upstream_gene_variant,,ENST00000637023,;URM1,non_coding_transcript_exon_variant,,ENST00000483206,;URM1,intron_variant,,ENST00000470840,;	-	ENST00000452446	Transcript	frameshift_variant	333/2944	333/441	111/146	L/X	ctG/ct		1		1	URM1	HGNC	HGNC:28378	protein_coding	YES	CCDS48035.1	ENSP00000412922	Q9BTM9		UPI00017A7D83	NM_001135947.2			4/4																			HIGH	1	deletion	2	2		1										PASS		.	.												-	7	5	98	128389405	128389405	G	-	1	0	1	0	1	0	0	0	0	17559	1335	47	0		0	URM1	9	128389405	Frame_Shift_Del	DEL	G	C3N-02422_TP	5638809	128389405	10005312	23	30883											
SLC16A12	0	.	GRCh38	chr10	89441136	89441136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcccagagtgaggtagagAtgcttcagactcgtggcaaa	12	8	12	9	1	1	4	1	1	0	3	3	5	2	4	1	2	1	3	1	2	2	2	novel		C3N-02422_TP	C3N-02422_NB	A	A																c.420T>A	p.His140Gln	p.H140Q	ENST00000371790	5/8	356	310	46	488	488	0	strelka-varscan-mutect	SLC16A12,missense_variant,p.His140Gln,ENST00000371790,NM_213606.3;	T	ENST00000371790	Transcript	missense_variant	721/4617	420/1551	140/516	H/Q	caT/caA		1		-1	SLC16A12	HGNC	HGNC:23094	protein_coding	YES	CCDS7404.2	ENSP00000360855		E9PSF9	UPI0000049FA0	NM_213606.3	tolerated(0.42)		5/8		PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF28,hmmpanther:PTHR11360,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	98	89441136	89441136	A	T	1	0	0	0	0	1	0	0	0	14671	330	12	4		4	SLC16A12	10	89441136	Missense_Mutation	SNP	A	C3N-02422_TP		89441136	44356286	24	30884											
R3HCC1L	0	.	GRCh38	chr10	98209282	98209282	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcctgtagtgatcatgtaActgttgatagcccttatgta	9	16	9	7	0	1	2	1	2	0	0	2	2	2	2	2	0	2	4	2	0	5	6	novel		C3N-02422_TP	C3N-02422_NB	A	A																c.1168A>G	p.Thr390Ala	p.T390A	ENST00000612478	3/9	68	62	6	132	132	0	strelka-varscan-mutect	R3HCC1L,missense_variant,p.Thr390Ala,ENST00000298999,NM_014472.4;R3HCC1L,missense_variant,p.Thr390Ala,ENST00000370584,NM_138469.2,NM_001256620.1;R3HCC1L,missense_variant,p.Thr390Ala,ENST00000612478,NM_001256619.1;R3HCC1L,missense_variant,p.Thr390Ala,ENST00000314594,;R3HCC1L,intron_variant,,ENST00000613938,;R3HCC1L,intron_variant,,ENST00000370586,NM_001256621.1;	G	ENST00000612478	Transcript	missense_variant	1390/3337	1168/2379	390/792	T/A	Act/Gct		1		1	R3HCC1L	HGNC	HGNC:23512	protein_coding	YES	CCDS73178.1	ENSP00000483494		A0A087X0M0	UPI00001F94F3	NM_001256619.1	tolerated(0.11)		3/9		hmmpanther:PTHR21678,hmmpanther:PTHR21678:SF7																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	98	98209282	98209282	A	G	1	0	0	0	0	1	0	0	0	13043	43	2	5		5	R3HCC1L	10	98209282	Missense_Mutation	SNP	A	C3N-02422_TP	8768146	98209282	35588140	25	30885											
NHLRC2	0	.	GRCh38	chr10	113876722	113876722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaacatgttgttttcttTgattggagagggacacaaag	12	13	12	4	0	1	2	0	1	1	1	1	5	1	4	0	3	1	2	0	3	2	5	novel		C3N-02422_TP	C3N-02422_NB	T	T																c.533T>C	p.Leu178Ser	p.L178S	ENST00000369301	3/11	194	171	23	310	310	0	strelka-varscan-mutect	NHLRC2,missense_variant,p.Leu178Ser,ENST00000369301,NM_198514.3;	C	ENST00000369301	Transcript	missense_variant	745/11051	533/2181	178/726	L/S	tTg/tCg		1		1	NHLRC2	HGNC	HGNC:24731	protein_coding	YES	CCDS7585.1	ENSP00000358307	Q8NBF2		UPI0000071EAF	NM_198514.3	deleterious(0)		3/11		Gene3D:3.40.30.10,PROSITE_profiles:PS51352,hmmpanther:PTHR13833,hmmpanther:PTHR13833:SF49,Superfamily_domains:SSF52833																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	98	113876722	113876722	T	C	1	0	0	0	0	1	0	0	0	10439	1821	63	5		5	NHLRC2	10	113876722	Missense_Mutation	SNP	T	C3N-02422_TP	15667440	113876722	19920700	26	30886											
SERPINH1	0	.	GRCh38	chr11	75569115	75569115	+	Missense_Mutation	SNP	A	A	G																															ggatggggaagatgcagaagAaggctgttgccatctccttg																								novel		C3N-02422_TP	C3N-02422_NB	A	A																c.898A>G	p.Lys300Glu	p.K300E	ENST00000524558	4/5	379	312	67	336	335	1	strelka-varscan-mutect	SERPINH1,missense_variant,p.Lys300Glu,ENST00000524558,;SERPINH1,missense_variant,p.Lys300Glu,ENST00000533603,NM_001207014.1;SERPINH1,missense_variant,p.Lys83Glu,ENST00000525876,;SERPINH1,missense_variant,p.Lys300Glu,ENST00000358171,NM_001235.3;SERPINH1,missense_variant,p.Lys300Glu,ENST00000530284,;SERPINH1,downstream_gene_variant,,ENST00000532356,;SERPINH1,downstream_gene_variant,,ENST00000525611,;SERPINH1,downstream_gene_variant,,ENST00000526397,;SERPINH1,downstream_gene_variant,,ENST00000528760,;SERPINH1,downstream_gene_variant,,ENST00000529643,;SERPINH1,downstream_gene_variant,,ENST00000528990,;SERPINH1,downstream_gene_variant,,ENST00000533449,;SERPINH1,downstream_gene_variant,,ENST00000525492,;SERPINH1,downstream_gene_variant,,ENST00000526242,;SERPINH1,upstream_gene_variant,,ENST00000526638,;	G	ENST00000524558	Transcript	missense_variant	2333/3391	898/1257	300/418	K/E	Aag/Gag		1		1	SERPINH1	HGNC	HGNC:1546	protein_coding	YES	CCDS8239.1	ENSP00000434412	P50454	A0A024R5K8	UPI00001271B6		tolerated(0.72)		4/5		hmmpanther:PTHR11461:SF27,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	98	75569115	75569115	A	G	1	0	0	0	0	1	0	0	0	14393	247	9	5		5	SERPINH1	11	75569115	Missense_Mutation	SNP	A	C3N-02422_TP		75569115	59517507	27	30887	633	2									
SERPINH1	0	.	GRCh38	chr11	75569116	75569116	+	Missense_Mutation	SNP	A	A	C																															gatggggaagatgcagaagaAggctgttgccatctccttgc																								novel		C3N-02422_TP	C3N-02422_NB	A	A																c.899A>C	p.Lys300Thr	p.K300T	ENST00000524558	4/5	375	307	68	328	328	0	strelka-varscan-mutect	SERPINH1,missense_variant,p.Lys300Thr,ENST00000524558,;SERPINH1,missense_variant,p.Lys300Thr,ENST00000533603,NM_001207014.1;SERPINH1,missense_variant,p.Lys83Thr,ENST00000525876,;SERPINH1,missense_variant,p.Lys300Thr,ENST00000358171,NM_001235.3;SERPINH1,missense_variant,p.Lys300Thr,ENST00000530284,;SERPINH1,downstream_gene_variant,,ENST00000532356,;SERPINH1,downstream_gene_variant,,ENST00000525611,;SERPINH1,downstream_gene_variant,,ENST00000526397,;SERPINH1,downstream_gene_variant,,ENST00000528760,;SERPINH1,downstream_gene_variant,,ENST00000529643,;SERPINH1,downstream_gene_variant,,ENST00000528990,;SERPINH1,downstream_gene_variant,,ENST00000533449,;SERPINH1,downstream_gene_variant,,ENST00000525492,;SERPINH1,downstream_gene_variant,,ENST00000526242,;SERPINH1,upstream_gene_variant,,ENST00000526638,;	C	ENST00000524558	Transcript	missense_variant	2334/3391	899/1257	300/418	K/T	aAg/aCg		1		1	SERPINH1	HGNC	HGNC:1546	protein_coding	YES	CCDS8239.1	ENSP00000434412	P50454	A0A024R5K8	UPI00001271B6		tolerated(0.67)		4/5		hmmpanther:PTHR11461:SF27,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574																	MODERATE	1	SNV	2			1										PASS		rs1173430313	.												C	3	2	98	75569116	75569116	A	C	1	0	0	0	0	1	0	0	0	14393	72	3	5		5	SERPINH1	11	75569116	Missense_Mutation	SNP	A	C3N-02422_TP	1	75569116	59517506	28	30888	633	2									
SIK3	0	.	GRCh38	chr11	117098352	117098352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcagcaggcggcccgcggGcccggctcccccagtcccgg	4	2	16	19	5	0	0	0	0	0	0	2	0	2	0	5	6	1	3	5	6	0	0	novel		C3N-02422_TP	C3N-02422_NB	G	G																c.64C>A	p.Pro22Thr	p.P22T	ENST00000375300	1/24	34	25	9	24	24	0	strelka-varscan-mutect	SIK3,missense_variant,p.Pro16Thr,ENST00000445177,;SIK3,missense_variant,p.Pro22Thr,ENST00000375300,NM_025164.4,NM_001281748.1;SIK3,missense_variant,p.Pro22Thr,ENST00000446921,NM_001281749.1;AP000936.4,upstream_gene_variant,,ENST00000442124,;SIK3,upstream_gene_variant,,ENST00000485363,;SIK3,upstream_gene_variant,,ENST00000415541,;	T	ENST00000375300	Transcript	missense_variant	70/6213	64/3966	22/1321	P/T	Ccc/Acc		1		-1	SIK3	HGNC	HGNC:29165	protein_coding	YES	CCDS8379.2	ENSP00000364449		J3KPC8	UPI000066D90F	NM_025164.4,NM_001281748.1	tolerated_low_confidence(0.05)		1/24		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	98	117098352	117098352	G	T	1	0	0	0	0	1	0	0	0	14583	1203	42	2		2	SIK3	11	117098352	Missense_Mutation	SNP	G	C3N-02422_TP	41529236	117098352	17988270	29	30889											
NAV3	0	.	GRCh38	chr12	78198618	78198618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctagtccatatattattGgaacaatgaatcagggagtt	13	15	8	5	0	2	1	1	1	1	0	3	3	3	3	1	2	1	1	1	2	7	7			C3N-02422_TP	C3N-02422_NB	G	G																c.6460G>A	p.Gly2154Arg	p.G2154R	ENST00000397909	36/40	63	54	9	154	154	0	strelka-varscan-mutect	NAV3,missense_variant,p.Gly2154Arg,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Gly2132Arg,ENST00000536525,NM_014903.5;NAV3,missense_variant,p.Gly1027Arg,ENST00000552895,;NAV3,missense_variant,p.Gly754Arg,ENST00000550788,;NAV3,upstream_gene_variant,,ENST00000551162,;NAV3,upstream_gene_variant,,ENST00000547884,;	A	ENST00000397909	Transcript	missense_variant	6633/9821	6460/7158	2154/2385	G/R	Gga/Aga	COSM3465656,COSM3465657	1		1	NAV3	HGNC	HGNC:15998	protein_coding	YES	CCDS66432.1	ENSP00000381007	Q8IVL0		UPI0000E59849	NM_001024383.1	deleterious(0)		36/40		hmmpanther:PTHR12784:SF18,hmmpanther:PTHR12784,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	98	78198618	78198618	G	A	1	0	0	0	0	1	0	0	0	10194	1349	47	3		3	NAV3	12	78198618	Missense_Mutation	SNP	G	C3N-02422_TP		78198618	55076691	30	30890											
PLEKHG7	0	.	GRCh38	chr12	92756372	92756372	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagacaccttctctatgaAggaaaattaactcttgcagg	14	10	8	9	0	2	2	0	1	2	1	3	3	2	3	1	2	3	2	1	2	5	4	novel		C3N-02422_TP	C3N-02422_NB	A	A																c.681A>C	p.Glu227Asp	p.E227D	ENST00000344636	8/12	98	86	12	218	218	0	strelka-varscan-mutect	PLEKHG7,missense_variant,p.Glu227Asp,ENST00000344636,NM_001004330.2;	C	ENST00000344636	Transcript	missense_variant	865/3584	681/1140	227/379	E/D	gaA/gaC		1		1	PLEKHG7	HGNC	HGNC:33829	protein_coding	YES	CCDS31873.1	ENSP00000344961	Q6ZR37		UPI00001C1015	NM_001004330.2	tolerated(0.11)		8/12		Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR13217,SMART_domains:SM00233,Superfamily_domains:SSF50729																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	98	92756372	92756372	A	C	1	0	0	0	0	1	0	0	0	12168	69	3	5		5	PLEKHG7	12	92756372	Missense_Mutation	SNP	A	C3N-02422_TP	14557754	92756372	40518937	31	30891											
CUX2	0	.	GRCh38	chr12	111320597	111320597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgacggccgaggcgggcgCgcggctgccctactacccgg	4	3	17	17	9	0	0	0	0	0	0	0	2	0	0	3	5	3	1	3	5	2	2	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.2588C>T	p.Ala863Val	p.A863V	ENST00000261726	17/22	252	230	22	91	91	0	strelka-varscan-mutect	CUX2,missense_variant,p.Ala863Val,ENST00000261726,NM_015267.3;	T	ENST00000261726	Transcript	missense_variant	2742/6844	2588/4461	863/1486	A/V	gCg/gTg		1		1	CUX2	HGNC	HGNC:19347	protein_coding	YES	CCDS41837.1	ENSP00000261726	O14529		UPI00001FBB07	NM_015267.3	deleterious(0.02)		17/22		hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	98	111320597	111320597	C	T	1	0	0	0	0	1	0	0	0	3875	768	27	1		1	CUX2	12	111320597	Missense_Mutation	SNP	C	C3N-02422_TP	18564225	111320597	21954712	32	30892											
RASL11A	0	.	GRCh38	chr13	27273043	27273043	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagatccaagacagcctccCccaggtcgtcgattccctgt	8	9	8	16	2	1	2	1	0	0	2	6	3	4	2	5	1	1	0	5	1	1	1	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.278C>G	p.Pro93Arg	p.P93R	ENST00000241463	4/4	80	64	16	106	106	0	strelka-varscan-mutect	RASL11A,missense_variant,p.Pro93Arg,ENST00000241463,NM_206827.1;RASL11A,non_coding_transcript_exon_variant,,ENST00000480803,;RASL11A,non_coding_transcript_exon_variant,,ENST00000475647,;	G	ENST00000241463	Transcript	missense_variant	896/1543	278/729	93/242	P/R	cCc/cGc		1		1	RASL11A	HGNC	HGNC:23802	protein_coding	YES	CCDS9321.1	ENSP00000241463	Q6T310		UPI000013CAD1	NM_206827.1	tolerated(0.52)		4/4		PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF176,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	98	27273043	27273043	C	G	1	0	0	0	0	1	0	0	0	13242	623	22	4		4	RASL11A	13	27273043	Missense_Mutation	SNP	C	C3N-02422_TP		27273043	87091285	33	30893											
METTL21C	0	.	GRCh38	chr13	102694461	102694461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgagtccttccccccggCgcccaggctgctgcgcggag	4	6	14	17	4	0	1	0	1	0	0	2	2	2	2	5	3	3	3	5	3	0	1	rs753242037		C3N-02422_TP	C3N-02422_NB	C	C																c.38G>A	p.Arg13His	p.R13H	ENST00000267273	1/4	65	57	8	79	79	0	strelka-varscan-mutect	METTL21C,missense_variant,p.Arg13His,ENST00000267273,NM_001010977.2;	T	ENST00000267273	Transcript	missense_variant	44/1088	38/795	13/264	R/H	cGc/cAc	rs753242037	1		-1	METTL21C	HGNC	HGNC:33717	protein_coding	YES	CCDS32003.1	ENSP00000267273	Q5VZV1		UPI000016196F	NM_001010977.2	tolerated_low_confidence(0.59)		1/4		hmmpanther:PTHR14614,hmmpanther:PTHR14614:SF13																	MODERATE	1	SNV	1			1										PASS		rs753242037	.												T	3	4	98	102694461	102694461	C	T	1	0	0	0	0	1	0	0	0	9447	768	27	1		1	METTL21C	13	102694461	Missense_Mutation	SNP	C	C3N-02422_TP	75421418	102694461	11669867	34	30894											
ATP11A	0	.	GRCh38	chr13	112862477	112862477	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgctgcgctggcgcgtgTtcatctactggacgctcctg	3	11	12	15	4	2	0	1	0	1	0	3	1	3	1	2	2	3	4	2	2	1	2	novel		C3N-02422_TP	C3N-02422_NB	T	T																c.2893T>G	p.Phe965Val	p.F965V	ENST00000487903	25/30	288	235	53	343	343	0	strelka-varscan-mutect	ATP11A,missense_variant,p.Phe965Val,ENST00000487903,;ATP11A,missense_variant,p.Phe965Val,ENST00000375645,NM_015205.2;ATP11A,missense_variant,p.Phe965Val,ENST00000375630,NM_032189.3;ATP11A,downstream_gene_variant,,ENST00000418678,;ATP11A,missense_variant,p.Val343Gly,ENST00000471555,;ATP11A,downstream_gene_variant,,ENST00000459908,;	G	ENST00000487903	Transcript	missense_variant	2981/8858	2893/3405	965/1134	F/V	Ttc/Gtc		1		1	ATP11A	HGNC	HGNC:13552	protein_coding	YES	CCDS32011.1	ENSP00000420387	P98196		UPI00001FCB27		deleterious(0)		25/30		Transmembrane_helices:TMhelix,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF33,Pfam_domain:PF16212,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	98	112862477	112862477	T	G	1	0	0	0	0	1	0	0	0	1271	1725	60	5		5	ATP11A	13	112862477	Missense_Mutation	SNP	T	C3N-02422_TP	10168016	112862477	1501851	35	30895											
EML1	0	.	GRCh38	chr14	99939310	99939310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtgcacctcttctcatacCcctgctcgcagttcagggta	8	11	8	14	1	3	0	2	0	2	0	5	0	3	0	3	1	3	5	3	1	3	4	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.2362C>T	p.Pro788Ser	p.P788S	ENST00000334192	22/23	182	155	27	187	187	0	strelka-varscan-mutect	EML1,missense_variant,p.Pro769Ser,ENST00000262233,NM_004434.2;EML1,missense_variant,p.Pro788Ser,ENST00000334192,NM_001008707.1;EML1,missense_variant,p.Pro757Ser,ENST00000327921,;EML1,non_coding_transcript_exon_variant,,ENST00000553313,;EML1,downstream_gene_variant,,ENST00000557313,;	T	ENST00000334192	Transcript	missense_variant	2496/4064	2362/2505	788/834	P/S	Ccc/Tcc		1		1	EML1	HGNC	HGNC:3330	protein_coding	YES	CCDS32154.1	ENSP00000334314	O00423		UPI00004A074E	NM_001008707.1	deleterious(0)		22/23		hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF22,Superfamily_domains:SSF50978																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	98	99939310	99939310	C	T	1	0	0	0	0	1	0	0	0	4939	623	22	3		3	EML1	14	99939310	Missense_Mutation	SNP	C	C3N-02422_TP		99939310	7104408	36	30896											
MGA	0	.	GRCh38	chr15	41749735	41749735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttccagaagaaggttgtgCaactgtcaaaccatctgagc	12	9	9	11	0	2	3	1	1	1	2	3	3	3	3	3	1	4	2	3	1	4	2	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.6128C>T	p.Ala2043Val	p.A2043V	ENST00000219905	17/24	139	120	19	207	207	0	strelka-varscan-mutect	MGA,missense_variant,p.Ala1834Val,ENST00000566586,;MGA,missense_variant,p.Ala2043Val,ENST00000219905,NM_001164273.1;MGA,missense_variant,p.Ala2043Val,ENST00000570161,;MGA,missense_variant,p.Ala1834Val,ENST00000545763,NM_001080541.2;MGA,missense_variant,p.Ala691Val,ENST00000564190,;MGA,non_coding_transcript_exon_variant,,ENST00000566288,;	T	ENST00000219905	Transcript	missense_variant	6309/12042	6128/9198	2043/3065	A/V	gCa/gTa		1		1	MGA	HGNC	HGNC:14010	protein_coding	YES	CCDS55959.1	ENSP00000219905	Q8IWI9		UPI0001B2337E	NM_001164273.1	deleterious_low_confidence(0.01)		17/24		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	98	41749735	41749735	C	T	1	0	0	0	0	1	0	0	0	9498	710	25	3		3	MGA	15	41749735	Missense_Mutation	SNP	C	C3N-02422_TP		41749735	60241454	37	30897											
SLC24A1	0	.	GRCh38	chr15	65650605	65650605	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaatccacgcagaagatgGtgaaatgaaaggtaatgaag	18	7	12	4	1	0	6	0	4	0	2	1	6	1	6	1	2	0	2	1	2	6	1	novel		C3N-02422_TP	C3N-02422_NB	G	G																c.2456G>C	p.Gly819Ala	p.G819A	ENST00000261892	7/10	128	103	25	119	119	0	strelka-varscan-mutect	SLC24A1,missense_variant,p.Gly819Ala,ENST00000261892,NM_004727.2;SLC24A1,missense_variant,p.Gly819Ala,ENST00000339868,;SLC24A1,missense_variant,p.Gly801Ala,ENST00000537259,NM_001301033.1;SLC24A1,missense_variant,p.Gly819Ala,ENST00000399033,NM_001301031.1;SLC24A1,missense_variant,p.Gly801Ala,ENST00000546330,NM_001301032.1;SLC24A1,missense_variant,p.Gly705Ala,ENST00000544319,;SLC24A1,upstream_gene_variant,,ENST00000505666,;SLC24A1,non_coding_transcript_exon_variant,,ENST00000449142,;SLC24A1,non_coding_transcript_exon_variant,,ENST00000434116,;SLC24A1,non_coding_transcript_exon_variant,,ENST00000539516,;	C	ENST00000261892	Transcript	missense_variant	2743/5768	2456/3300	819/1099	G/A	gGt/gCt		1		1	SLC24A1	HGNC	HGNC:10975	protein_coding	YES	CCDS45284.1	ENSP00000261892	O60721		UPI000013020C	NM_004727.2			7/10		TIGRFAM_domain:TIGR00927,TIGRFAM_domain:TIGR00367																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	98	65650605	65650605	G	C	1	0	0	0	0	1	0	0	0	14731	1261	44	4		4	SLC24A1	15	65650605	Missense_Mutation	SNP	G	C3N-02422_TP	23900870	65650605	36340584	38	30898											
PKD1	0	.	GRCh38	chr16	2118210	2118210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgctggaggagggtggggCccctacaggtgggggcagga	6	5	22	8	1	0	0	0	0	0	0	0	3	0	3	2	9	2	2	2	9	1	1	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.782G>A	p.Gly261Asp	p.G261D	ENST00000262304	5/46	349	321	28	194	194	0	varscan-mutect	PKD1,missense_variant,p.Gly261Asp,ENST00000262304,NM_001009944.2;PKD1,missense_variant,p.Gly261Asp,ENST00000423118,NM_000296.3;PKD1,upstream_gene_variant,,ENST00000488185,;RP11-304L19.2,upstream_gene_variant,,ENST00000562027,;RP11-304L19.4,downstream_gene_variant,,ENST00000568795,;PKD1,upstream_gene_variant,,ENST00000570150,;PKD1,upstream_gene_variant,,ENST00000468674,;PKD1,upstream_gene_variant,,ENST00000483731,;PKD1,upstream_gene_variant,,ENST00000568591,;PKD1,upstream_gene_variant,,ENST00000565639,;	T	ENST00000262304	Transcript	missense_variant	991/14138	782/12912	261/4303	G/D	gGc/gAc		1		-1	PKD1	HGNC	HGNC:9008	protein_coding	YES	CCDS32369.1	ENSP00000262304	P98161		UPI00001B0454	NM_001009944.2	tolerated(0.07)		5/46		PROSITE_profiles:PS51212,Low_complexity_(Seg):seg,SMART_domains:SM00321,TIGRFAM_domain:TIGR00864																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	98	2118210	2118210	C	T	1	0	0	0	0	1	0	0	0	12059	739	26	3		3	PKD1	16	2118210	Missense_Mutation	SNP	C	C3N-02422_TP		2118210	88220135	39	30899											
SRRM2	0	.	GRCh38	chr16	2763775	2763775	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagacagagtcattcagaaTcaccatctctgcagagcaaa	15	8	8	10	0	4	4	3	1	1	4	5	5	4	4	1	0	2	2	1	0	2	1	novel		C3N-02422_TP	C3N-02422_NB	T	T																c.3247T>G	p.Ser1083Ala	p.S1083A	ENST00000301740	11/15	299	249	50	296	295	1	strelka-varscan-mutect	SRRM2,missense_variant,p.Ser1083Ala,ENST00000301740,NM_016333.3;SRRM2,intron_variant,,ENST00000630499,;SRRM2,downstream_gene_variant,,ENST00000576924,;SRRM2,downstream_gene_variant,,ENST00000571378,;SRRM2,downstream_gene_variant,,ENST00000575009,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,upstream_gene_variant,,ENST00000574593,;SRRM2,upstream_gene_variant,,ENST00000572721,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,downstream_gene_variant,,ENST00000575870,;SRRM2,upstream_gene_variant,,ENST00000576674,;SRRM2,downstream_gene_variant,,ENST00000576894,;SRRM2,upstream_gene_variant,,ENST00000576878,;SRRM2,downstream_gene_variant,,ENST00000572952,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,upstream_gene_variant,,ENST00000573311,;SRRM2,upstream_gene_variant,,ENST00000570705,;SRRM2,downstream_gene_variant,,ENST00000570655,;SRRM2,upstream_gene_variant,,ENST00000571041,;SRRM2,downstream_gene_variant,,ENST00000571372,;SRRM2,downstream_gene_variant,,ENST00000573451,;	G	ENST00000301740	Transcript	missense_variant	3796/9353	3247/8259	1083/2752	S/A	Tca/Gca		1		1	SRRM2	HGNC	HGNC:16639	protein_coding	YES	CCDS32373.1	ENSP00000301740	Q9UQ35	A0A140VK53	UPI000049DDFC	NM_016333.3	deleterious_low_confidence(0.01)		11/15		hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	98	2763775	2763775	T	G	1	0	0	0	0	1	0	0	0	15530	1435	50	5		5	SRRM2	16	2763775	Missense_Mutation	SNP	T	C3N-02422_TP	645565	2763775	87574570	40	30900			2	31		2	2	24	T		4.319482e-05
SRRM2	0	.	GRCh38	chr16	2763798	2763798	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctctgcagagcaaatcTcaaacatcacctaagggagg	14	7	8	12	0	3	1	2	0	2	1	5	2	3	2	2	2	3	2	2	2	3	1	novel		C3N-02422_TP	C3N-02422_NB	T	T																c.3270T>G	p.=	p.S1090S	ENST00000301740	11/15	302	250	52	318	318	0	strelka-varscan-mutect	SRRM2,synonymous_variant,p.=,ENST00000301740,NM_016333.3;SRRM2,intron_variant,,ENST00000630499,;SRRM2,downstream_gene_variant,,ENST00000576924,;SRRM2,downstream_gene_variant,,ENST00000571378,;SRRM2,downstream_gene_variant,,ENST00000575009,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,upstream_gene_variant,,ENST00000574593,;SRRM2,upstream_gene_variant,,ENST00000572721,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,downstream_gene_variant,,ENST00000575870,;SRRM2,upstream_gene_variant,,ENST00000576674,;SRRM2,downstream_gene_variant,,ENST00000576894,;SRRM2,upstream_gene_variant,,ENST00000576878,;SRRM2,downstream_gene_variant,,ENST00000572952,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,upstream_gene_variant,,ENST00000573311,;SRRM2,upstream_gene_variant,,ENST00000570705,;SRRM2,downstream_gene_variant,,ENST00000570655,;SRRM2,upstream_gene_variant,,ENST00000571041,;SRRM2,downstream_gene_variant,,ENST00000571372,;SRRM2,downstream_gene_variant,,ENST00000573451,;	G	ENST00000301740	Transcript	synonymous_variant	3819/9353	3270/8259	1090/2752	S	tcT/tcG		1		1	SRRM2	HGNC	HGNC:16639	protein_coding	YES	CCDS32373.1	ENSP00000301740	Q9UQ35	A0A140VK53	UPI000049DDFC	NM_016333.3			11/15		hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	98	2763798	2763798	T	G	1	0	0	0	0	0	0	0	1	15530	1538	54	5		5	SRRM2	16	2763798	Silent	SNP	T	C3N-02422_TP	23	2763798	87574547	41	30901			2	31		2	2	24	T		4.319482e-05
USP10	0	.	GRCh38	chr16	84744694	84744694	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaacccagtgacactttGccgagaacccccagctacag	12	7	8	14	1	0	3	0	2	0	1	0	4	0	3	4	0	5	1	4	0	3	3			C3N-02422_TP	C3N-02422_NB	G	G																c.225G>A	p.=	p.L75L	ENST00000570191	5/15	85	67	18	114	114	0	strelka-varscan-mutect	USP10,synonymous_variant,p.=,ENST00000219473,NM_005153.2;USP10,synonymous_variant,p.=,ENST00000570191,NM_001272075.1;USP10,synonymous_variant,p.=,ENST00000562283,;USP10,intron_variant,,ENST00000569038,;USP10,intron_variant,,ENST00000563892,;USP10,intron_variant,,ENST00000570053,;USP10,non_coding_transcript_exon_variant,,ENST00000562743,;USP10,downstream_gene_variant,,ENST00000562092,;USP10,missense_variant,p.Cys51Tyr,ENST00000540269,;USP10,3_prime_UTR_variant,,ENST00000563386,;USP10,non_coding_transcript_exon_variant,,ENST00000566512,;USP10,non_coding_transcript_exon_variant,,ENST00000563023,;USP10,intron_variant,,ENST00000563048,;	A	ENST00000570191	Transcript	synonymous_variant	421/2717	225/2409	75/802	L	ttG/ttA	COSM1479144	1		1	USP10	HGNC	HGNC:12608	protein_coding	YES	CCDS62004.1	ENSP00000457411	Q14694		UPI0001C67AA8	NM_001272075.1			5/15													1						LOW	1	SNV	2		1	1										PASS		.	.												A	2	1	98	84744694	84744694	G	A	1	0	0	0	0	0	0	0	1	17575	1310	46	3		3	USP10	16	84744694	Silent	SNP	G	C3N-02422_TP	81980896	84744694	5593651	42	30902											
SLC13A5	0	.	GRCh38	chr17	6703023	6703023	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcccggtcagggtggcGgtgcccccgatgctggccgc	2	6	16	17	5	1	0	1	0	0	0	2	1	2	0	5	5	2	1	5	5	0	0	rs373831482		C3N-02422_TP	C3N-02422_NB	G	G																c.663C>A	p.=	p.T221T	ENST00000433363	5/12	243	212	31	174	174	0	strelka-varscan-mutect	SLC13A5,synonymous_variant,p.=,ENST00000433363,NM_177550.4;SLC13A5,synonymous_variant,p.=,ENST00000293800,NM_001284509.1;SLC13A5,synonymous_variant,p.=,ENST00000381074,NM_001284510.1;SLC13A5,synonymous_variant,p.=,ENST00000573648,NM_001143838.2;SLC13A5,downstream_gene_variant,,ENST00000572352,;SLC13A5,downstream_gene_variant,,ENST00000576323,;SLC13A5,3_prime_UTR_variant,,ENST00000572094,;SLC13A5,non_coding_transcript_exon_variant,,ENST00000574824,;SLC13A5,downstream_gene_variant,,ENST00000575230,;	T	ENST00000433363	Transcript	synonymous_variant	897/3435	663/1707	221/568	T	acC/acA	rs373831482	1		-1	SLC13A5	HGNC	HGNC:23089	protein_coding	YES	CCDS11079.1	ENSP00000406220	Q86YT5		UPI000000D834	NM_177550.4			5/12		Transmembrane_helices:TMhelix,hmmpanther:PTHR10283:SF82,hmmpanther:PTHR10283,Pfam_domain:PF00939																	LOW	1	SNV	1			1										PASS		rs373831482	.												T	2	4	98	6703023	6703023	G	T	1	0	0	0	0	0	0	0	1	14660	1103	39	1		1	SLC13A5	17	6703023	Silent	SNP	G	C3N-02422_TP		6703023	76554418	43	30903											
GAS2L2	0	.	GRCh38	chr17	35752589	35752589	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggggcatgggaatcttctGggcttgggcaggtgcctcag	5	9	17	10	1	3	0	1	0	2	0	3	1	3	1	2	6	1	3	2	6	1	2	novel		C3N-02422_TP	C3N-02422_NB	G	G																c.262C>T	p.Gln88Ter	p.Q88*	ENST00000604641	1/6	183	159	24	120	120	0	strelka-varscan-mutect	GAS2L2,stop_gained,p.Gln88Ter,ENST00000604641,NM_139285.3;GAS2L2,stop_gained,p.Gln88Ter,ENST00000604063,;GAS2L2,stop_gained,p.Gln88Ter,ENST00000618498,;MMP28,downstream_gene_variant,,ENST00000615317,;RP1-161P9.5,downstream_gene_variant,,ENST00000603816,;TAF15,intron_variant,,ENST00000603067,;MMP28,downstream_gene_variant,,ENST00000619655,;	A	ENST00000604641	Transcript	stop_gained	290/3014	262/2643	88/880	Q/*	Cag/Tag		1		-1	GAS2L2	HGNC	HGNC:24846	protein_coding	YES	CCDS11298.1	ENSP00000474529	Q8NHY3		UPI0000061E50	NM_139285.3			1/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF308,hmmpanther:PTHR11915,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	98	35752589	35752589	G	A	1	0	0	0	0	0	1	0	0	6117	1357	47	3		3	GAS2L2	17	35752589	Nonsense_Mutation	SNP	G	C3N-02422_TP	29049566	35752589	47504852	44	30904											
CEP95	0	.	GRCh38	chr17	64532950	64532950	+	Frame_Shift_Del	DEL	A	A	-																															acagcaaattgcacaggttgAacagcttaagaaagaagcat																								novel		C3N-02422_TP	C3N-02422_NB	A	A																c.1785delA	p.Glu595AspfsTer21	p.E595Dfs*21	ENST00000556440	15/20	110	86	24	216	216	0	sindel-varindel-pindel	CEP95,frameshift_variant,p.Glu595AspfsTer21,ENST00000556440,NM_138363.1;CEP95,frameshift_variant,p.Glu530AspfsTer21,ENST00000553412,;CEP95,upstream_gene_variant,,ENST00000583676,;CEP95,downstream_gene_variant,,ENST00000583457,;CEP95,downstream_gene_variant,,ENST00000577476,;CEP95,3_prime_UTR_variant,,ENST00000553956,;CEP95,non_coding_transcript_exon_variant,,ENST00000582698,;CEP95,upstream_gene_variant,,ENST00000581885,;CEP95,upstream_gene_variant,,ENST00000580285,;CEP95,upstream_gene_variant,,ENST00000581980,;CEP95,downstream_gene_variant,,ENST00000579117,;CEP95,downstream_gene_variant,,ENST00000584857,;CEP95,downstream_gene_variant,,ENST00000579478,;CEP95,downstream_gene_variant,,ENST00000579637,;	-	ENST00000556440	Transcript	frameshift_variant	2294/3139	1784/2466	595/821	E/X	gAa/ga		1		1	CEP95	HGNC	HGNC:25141	protein_coding	YES	CCDS45763.1	ENSP00000450461	Q96GE4		UPI000006F4B3	NM_138363.1			15/20		hmmpanther:PTHR22545,hmmpanther:PTHR22545:SF0																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	98	64532950	64532950	A	-	1	0	1	0	1	0	0	0	0	2988	246	9	0		0	CEP95	17	64532950	Frame_Shift_Del	DEL	A	C3N-02422_TP	28780361	64532950	18724491	45	30905											
RECQL5	0	.	GRCh38	chr17	75662979	75662979	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcgtacctttagggttaGcaagtggtccacttggtcct	7	14	10	10	1	0	0	0	0	0	0	3	0	2	0	3	3	3	3	3	3	5	6	novel		C3N-02422_TP	C3N-02422_NB	G	G																c.271C>T	p.=	p.L91L	ENST00000317905	4/20	54	48	6	49	49	0	strelka-varscan-mutect	RECQL5,synonymous_variant,p.=,ENST00000420326,NM_001003716.3;RECQL5,synonymous_variant,p.=,ENST00000317905,NM_004259.6;RECQL5,synonymous_variant,p.=,ENST00000423245,;RECQL5,synonymous_variant,p.=,ENST00000578201,;RECQL5,synonymous_variant,p.=,ENST00000584999,;RECQL5,synonymous_variant,p.=,ENST00000340830,NM_001003715.3;SAP30BP,upstream_gene_variant,,ENST00000584667,NM_013260.7;SAP30BP,upstream_gene_variant,,ENST00000355423,NM_001301839.1;SAP30BP,upstream_gene_variant,,ENST00000583536,NM_001301855.1;RECQL5,upstream_gene_variant,,ENST00000580078,;SAP30BP,upstream_gene_variant,,ENST00000579864,;SAP30BP,upstream_gene_variant,,ENST00000578354,;RECQL5,upstream_gene_variant,,ENST00000579274,;SAP30BP,upstream_gene_variant,,ENST00000582022,;SAP30BP,upstream_gene_variant,,ENST00000580322,;SAP30BP,upstream_gene_variant,,ENST00000293208,;SAP30BP,upstream_gene_variant,,ENST00000577292,;SAP30BP,upstream_gene_variant,,ENST00000542343,;SAP30BP,upstream_gene_variant,,ENST00000578288,;SAP30BP,upstream_gene_variant,,ENST00000580484,;RECQL5,upstream_gene_variant,,ENST00000582464,;SAP30BP,upstream_gene_variant,,ENST00000584861,;SAP30BP,upstream_gene_variant,,ENST00000579877,;SAP30BP,upstream_gene_variant,,ENST00000583170,;SAP30BP,upstream_gene_variant,,ENST00000583737,;	A	ENST00000317905	Transcript	synonymous_variant	431/3704	271/2976	91/991	L	Cta/Tta		1		-1	RECQL5	HGNC	HGNC:9950	protein_coding	YES	CCDS42380.1	ENSP00000317636	O94762	A0A024R8M9	UPI0000133477	NM_004259.6			4/20		Gene3D:3.40.50.300,Pfam_domain:PF00270,PROSITE_profiles:PS51192,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF85,SMART_domains:SM00487,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00614																	LOW	1	SNV	1			1										PASS		rs1452980294	.												A	2	1	98	75662979	75662979	G	A	1	0	0	0	0	0	0	0	1	13373	962	34	3		3	RECQL5	17	75662979	Silent	SNP	G	C3N-02422_TP	11130029	75662979	7594462	46	30906											
MBP	0	.	GRCh38	chr18	77016995	77017008	+	Frame_Shift_Del	DEL	TTCTGTGACGCCAT	TTCTGTGACGCCAT	-																															cgtgcctctgggagggtctcTtctgtgacgccatcacatcc																								novel		C3N-02422_TP	C3N-02422_NB	TTCTGTGACGCCAT	TTCTGTGACGCCAT																c.400_413delATGGCGTCACAGAA	p.Met134GlufsTer35	p.M134Efs*35	ENST00000397860	4/4	250	216	34	225	224	1	sindel-pindel	MBP,frameshift_variant,p.Met134GlufsTer35,ENST00000397860,NM_001025100.1;MBP,frameshift_variant,p.Met134GlufsTer35,ENST00000397863,;MBP,frameshift_variant,p.Met134GlufsTer35,ENST00000355994,NM_001025101.1;MBP,frameshift_variant,p.Met1_?5,ENST00000382582,NM_001025081.1;MBP,frameshift_variant,p.Met1_?5,ENST00000397875,;MBP,frameshift_variant,p.Met1_?5,ENST00000397866,NM_001025090.1;MBP,frameshift_variant,p.Met1_?5,ENST00000397865,NM_001025092.1;MBP,frameshift_variant,p.Met1_?5,ENST00000359645,NM_002385.2;MBP,frameshift_variant,p.Met134GlufsTer35,ENST00000579129,;MBP,frameshift_variant,p.Met134GlufsTer35,ENST00000580402,;MBP,frameshift_variant,p.Met1_?5,ENST00000397869,;MBP,frameshift_variant,p.Met1_?5,ENST00000498683,;MBP,frameshift_variant,p.Met1_?5,ENST00000528160,;MBP,frameshift_variant,p.Met1_?5,ENST00000527041,;MBP,frameshift_variant,p.Met1_?5,ENST00000526111,;MBP,frameshift_variant,p.Met1_?5,ENST00000578193,;MBP,frameshift_variant,p.Met1_?5,ENST00000354542,;MBP,frameshift_variant,p.Met134GlufsTer?,ENST00000581878,;MBP,frameshift_variant,p.Met1_?5,ENST00000578873,;MBP,non_coding_transcript_exon_variant,,ENST00000487778,;MBP,non_coding_transcript_exon_variant,,ENST00000581179,;MBP,non_coding_transcript_exon_variant,,ENST00000583266,;MBP,non_coding_transcript_exon_variant,,ENST00000585216,;MBP,non_coding_transcript_exon_variant,,ENST00000582282,;MBP,intron_variant,,ENST00000580473,;MBP,downstream_gene_variant,,ENST00000497479,;MBP,downstream_gene_variant,,ENST00000495162,;MBP,downstream_gene_variant,,ENST00000490754,;MBP,frameshift_variant,p.Met1_?5,ENST00000533278,;MBP,frameshift_variant,p.Met1_?5,ENST00000531144,;MBP,frameshift_variant,p.Met1_?5,ENST00000493623,;MBP,frameshift_variant,p.Met1_?5,ENST00000583474,;MBP,frameshift_variant,p.Met1_?5,ENST00000459948,;MBP,frameshift_variant,p.Met1_?5,ENST00000483025,;MBP,frameshift_variant,p.Met1_?5,ENST00000527975,;MBP,frameshift_variant,p.Met1_?5,ENST00000473302,;MBP,coding_sequence_variant,,ENST00000577755,;MBP,non_coding_transcript_exon_variant,,ENST00000484548,;MBP,non_coding_transcript_exon_variant,,ENST00000467108,;MBP,non_coding_transcript_exon_variant,,ENST00000397868,;MBP,non_coding_transcript_exon_variant,,ENST00000482445,;	-	ENST00000397860	Transcript	frameshift_variant	615-628/4844	400-413/594	134-138/197	MASQK/X	ATGGCGTCACAGAAg/g		1		-1	MBP	HGNC	HGNC:6925	protein_coding	YES	CCDS42450.1	ENSP00000380958	P02686		UPI000002ADA3	NM_001025100.1			4/4		hmmpanther:PTHR11429,hmmpanther:PTHR11429:SF0																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	98	77016995	77016995	TTCTGTGACGCCAT	-	1	0	1	0	1	0	0	0	0	9292	1609	56	0		0	MBP	18	77016995	Frame_Shift_Del	DEL	TTCTGTGACGCCAT	C3N-02422_TP		77016995	3356290	47	30907											
ZNF554	0	.	GRCh38	chr19	2834517	2834517	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctgatcttgcacaagAggacacacaccggagagaag	14	6	10	11	1	1	3	0	1	1	2	1	6	1	5	2	2	2	1	2	2	3	2	novel		C3N-02422_TP	C3N-02422_NB	A	A																c.1282A>T	p.Arg428Trp	p.R428W	ENST00000317243	5/5	327	257	70	356	356	0	strelka-varscan-mutect	ZNF554,missense_variant,p.Arg428Trp,ENST00000317243,NM_001102651.1;ZNF554,downstream_gene_variant,,ENST00000591265,;ZNF554,3_prime_UTR_variant,,ENST00000590116,;ZNF554,non_coding_transcript_exon_variant,,ENST00000588534,;	T	ENST00000317243	Transcript	missense_variant	1480/2736	1282/1617	428/538	R/W	Agg/Tgg		1		1	ZNF554	HGNC	HGNC:26629	protein_coding	YES	CCDS42462.1	ENSP00000321132	Q86TJ5		UPI000000DC5D	NM_001102651.1	deleterious(0)		5/5		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF56,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	98	2834517	2834517	A	T	1	0	0	0	0	1	0	0	0	18559	295	11	4		4	ZNF554	19	2834517	Missense_Mutation	SNP	A	C3N-02422_TP		2834517	55783099	48	30908											
ATP4A	0	.	GRCh38	chr19	35558664	35558664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcgcccgccacgtctcCgaggactggtcaaacgtctg	8	6	11	16	5	3	0	1	0	2	0	4	2	3	1	3	2	2	0	3	2	1	0	rs763497915		C3N-02422_TP	C3N-02422_NB	C	C																c.1278G>A	p.=	p.S426S	ENST00000262623	9/22	145	132	13	109	109	0	strelka-mutect	ATP4A,synonymous_variant,p.=,ENST00000262623,NM_000704.2;ATP4A,upstream_gene_variant,,ENST00000592131,;ATP4A,upstream_gene_variant,,ENST00000592767,;ATP4A,downstream_gene_variant,,ENST00000590916,;	T	ENST00000262623	Transcript	synonymous_variant	1307/3709	1278/3108	426/1035	S	tcG/tcA	rs763497915	1		-1	ATP4A	HGNC	HGNC:819	protein_coding	YES	CCDS12467.1	ENSP00000262623	P20648		UPI000016A49B	NM_000704.2			9/22		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01106,Superfamily_domains:SSF81660																	LOW	1	SNV	1			1										PASS		rs763497915	.												T	2	4	98	35558664	35558664	C	T	1	0	0	0	0	0	0	0	1	1298	639	23	1		1	ATP4A	19	35558664	Silent	SNP	C	C3N-02422_TP	32724147	35558664	23058952	49	30909											
LILRB1	0	.	GRCh38	chr19	54632171	54632171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtggtacaggtgctatGcttatgactcgaactctccc	7	12	12	10	1	1	1	0	1	1	0	3	2	1	1	1	4	4	3	1	4	4	3	novel		C3N-02422_TP	C3N-02422_NB	G	G																c.595G>A	p.Ala199Thr	p.A199T	ENST00000324602	5/15	281	240	41	220	220	0	strelka-varscan-mutect	LILRB1,missense_variant,p.Ala199Thr,ENST00000396331,NM_006669.6;LILRB1,missense_variant,p.Ala199Thr,ENST00000396327,NM_001081638.3;LILRB1,missense_variant,p.Ala199Thr,ENST00000396332,NM_001081639.3;LILRB1,missense_variant,p.Ala199Thr,ENST00000324602,NM_001081637.2;LILRB1,missense_variant,p.Ala235Thr,ENST00000427581,;LILRB1,missense_variant,p.Ala199Thr,ENST00000396315,;LILRB1,missense_variant,p.Ala199Thr,ENST00000396317,NM_001278398.2;AC009892.10,downstream_gene_variant,,ENST00000456337,;LILRB1,upstream_gene_variant,,ENST00000462628,;LILRB1,upstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,missense_variant,p.Ala199Thr,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;	A	ENST00000324602	Transcript	missense_variant	760/2774	595/1959	199/652	A/T	Gct/Act		1		1	LILRB1	HGNC	HGNC:6605	protein_coding	YES	CCDS42614.1	ENSP00000315997		A0A087WSV6	UPI00034F23AA	NM_001081637.2	deleterious(0)		5/15		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF117,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE		SNV	5			1										PASS		rs1164583552	.												A	3	1	98	54632171	54632171	G	A	1	0	0	0	0	1	0	0	0	8698	1319	46	3		3	LILRB1	19	54632171	Missense_Mutation	SNP	G	C3N-02422_TP	19073507	54632171	3985445	50	30910											
PLCB4	0	.	GRCh38	chr20	9478941	9478941	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgaaggagatgcagcagatGgtgaaattggaagccgagat	14	6	16	5	2	0	4	0	1	0	3	0	8	0	5	1	3	3	2	1	3	3	1	novel		C3N-02422_TP	C3N-02422_NB	G	G																c.3517G>C	p.Gly1173Arg	p.G1173R	ENST00000378501	36/36	209	185	24	333	333	0	strelka-mutect	PLCB4,missense_variant,p.Gly1173Arg,ENST00000378501,NM_000933.3;PLCB4,missense_variant,p.Met1160Ile,ENST00000378493,;PLCB4,missense_variant,p.Met1172Ile,ENST00000378473,NM_001172646.1;PLCB4,missense_variant,p.Met1160Ile,ENST00000278655,NM_182797.2;PLCB4,missense_variant,p.Met1172Ile,ENST00000414679,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;	C	ENST00000378501	Transcript	missense_variant	3532/5833	3517/3585	1173/1194	G/R	Ggt/Cgt		1		1	PLCB4	HGNC	HGNC:9059	protein_coding	YES	CCDS13104.1	ENSP00000367762	Q15147		UPI00002069DF	NM_000933.3	deleterious_low_confidence(0.01)		36/36		hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF106																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	98	9478941	9478941	G	C	1	0	0	0	0	1	0	0	0	12124	1348	47	4		4	PLCB4	20	9478941	Missense_Mutation	SNP	G	C3N-02422_TP		9478941	54965226	51	30911											
RBPJL	0	.	GRCh38	chr20	45311867	45311867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggggaaacggggcccacGgtctgcggttacatgggact	7	6	18	10	4	1	0	0	0	1	0	1	2	1	2	1	7	3	1	1	7	2	1	novel		C3N-02422_TP	C3N-02422_NB	G	G																c.357G>A	p.=	p.T119T	ENST00000343694	5/12	267	239	28	150	150	0	strelka-varscan-mutect	RBPJL,synonymous_variant,p.=,ENST00000343694,NM_014276.3;RBPJL,synonymous_variant,p.=,ENST00000372741,NM_001281448.1;RBPJL,synonymous_variant,p.=,ENST00000372743,NM_001281449.1;MATN4,upstream_gene_variant,,ENST00000360607,NM_030590.3;MATN4,upstream_gene_variant,,ENST00000537548,;MATN4,upstream_gene_variant,,ENST00000353917,NM_030592.3;RBPJL,upstream_gene_variant,,ENST00000464504,;RBPJL,upstream_gene_variant,,ENST00000622729,;	A	ENST00000343694	Transcript	synonymous_variant	429/2489	357/1554	119/517	T	acG/acA		1		1	RBPJL	HGNC	HGNC:13761	protein_coding	YES	CCDS13349.1	ENSP00000341243	Q9UBG7		UPI0000047297	NM_014276.3			5/12		Gene3D:2.60.40.1450,Pfam_domain:PF09271,hmmpanther:PTHR10665,hmmpanther:PTHR10665:SF2,SMART_domains:SM01267,Superfamily_domains:SSF49417																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	98	45311867	45311867	G	A	1	0	0	0	0	0	0	0	1	13330	1103	39	1		1	RBPJL	20	45311867	Silent	SNP	G	C3N-02422_TP	35832926	45311867	19132300	52	30912											
FAM65C	0	.	GRCh38	chr20	50602138	50602138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggggctgggtggagtcCgtgggcctcagcaactccag	6	7	17	11	1	1	0	1	0	0	0	3	1	3	1	3	5	3	3	3	5	1	0	rs201413126		C3N-02422_TP	C3N-02422_NB	C	C																c.1581G>A	p.=	p.T527T	ENST00000327979	13/22	109	91	18	71	71	0	strelka-varscan-mutect	FAM65C,synonymous_variant,p.=,ENST00000327979,NM_001290268.1;FAM65C,synonymous_variant,p.=,ENST00000045083,NM_080829.3;FAM65C,upstream_gene_variant,,ENST00000488529,;FAM65C,non_coding_transcript_exon_variant,,ENST00000462493,;	T	ENST00000327979	Transcript	synonymous_variant	1993/4377	1581/2841	527/946	T	acG/acA	rs201413126,COSM1027947	1		-1	FAM65C	HGNC	HGNC:16168	protein_coding	YES	CCDS13431.2	ENSP00000332663	Q96MK2		UPI0000DA5AF4	NM_001290268.1			13/22		hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF15											0,1						LOW	1	SNV	2		0,1	1										PASS		rs201413126	.												T	2	4	98	50602138	50602138	C	T	1	0	0	0	0	0	0	0	1	5467	639	23	1		1	FAM65C	20	50602138	Silent	SNP	C	C3N-02422_TP	5290271	50602138	13842029	53	30913											
USP25	0	.	GRCh38	chr21	15831470	15831470	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggcactactgggcatatAtttttgatcatcgtgaaagc	10	13	10	8	1	1	2	1	2	0	0	2	2	1	2	0	2	2	2	0	2	4	5	novel		C3N-02422_TP	C3N-02422_NB	A	A																c.1834A>G	p.Ile612Val	p.I612V	ENST00000400183	16/26	267	220	47	432	431	1	strelka-varscan-mutect	USP25,missense_variant,p.Ile612Val,ENST00000400183,NM_001283041.1;USP25,missense_variant,p.Ile612Val,ENST00000285681,NM_001283042.1;USP25,missense_variant,p.Ile612Val,ENST00000285679,NM_013396.4;USP25,missense_variant,p.Ile141Val,ENST00000453553,;USP25,intron_variant,,ENST00000351097,;	G	ENST00000400183	Transcript	missense_variant	2203/5341	1834/3378	612/1125	I/V	Att/Gtt		1		1	USP25	HGNC	HGNC:12624	protein_coding	YES	CCDS63336.1	ENSP00000383044	Q9UHP3		UPI000040FA6E	NM_001283041.1	tolerated(0.16)		16/26		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF467,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	98	15831470	15831470	A	G	1	0	0	0	0	1	0	0	0	17597	449	16	5		5	USP25	21	15831470	Missense_Mutation	SNP	A	C3N-02422_TP		15831470	30878513	54	30914											
CLDN5	0	.	GRCh38	chr22	19524310	19524310	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacccccaaggccgtgctgCgcggcgccctgggcgggccc	4	3	16	18	5	0	0	0	0	0	0	0	1	0	0	5	4	3	1	5	4	2	0	novel		C3N-02422_TP	C3N-02422_NB	C	C																c.201G>A	p.=	p.A67A	ENST00000406028	2/2	77	68	9	48	48	0	strelka-varscan-mutect	CLDN5,synonymous_variant,p.=,ENST00000406028,;CLDN5,synonymous_variant,p.=,ENST00000403084,NM_001130861.1;CLDN5,synonymous_variant,p.=,ENST00000413119,NM_003277.3;CLDN5,5_prime_UTR_variant,,ENST00000618236,;CDC45,downstream_gene_variant,,ENST00000407835,;CDC45,downstream_gene_variant,,ENST00000437685,NM_001178010.2;CDC45,downstream_gene_variant,,ENST00000263201,NM_003504.4;CDC45,downstream_gene_variant,,ENST00000404724,NM_001178011.2;CDC45,downstream_gene_variant,,ENST00000493724,;	T	ENST00000406028	Transcript	synonymous_variant	1262/2548	201/912	67/303	A	gcG/gcA		1		-1	CLDN5	HGNC	HGNC:2047	protein_coding	YES	CCDS13763.2	ENSP00000385477		D3DX19	UPI0000207B80				2/2		Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	98	19524310	19524310	C	T	1	0	0	0	0	0	0	0	1	3254	755	27	1		1	CLDN5	22	19524310	Silent	SNP	C	C3N-02422_TP		19524310	31294158	55	30915											
MYO18B	0	.	GRCh38	chr22	25902701	25902701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggagaacaccagtgtcCggtgggagctaggccagctt	9	6	14	12	1	0	1	0	0	0	1	1	3	1	2	4	4	3	2	4	4	2	2	rs200771643		C3N-02422_TP	C3N-02422_NB	C	C																c.4912C>T	p.Arg1638Trp	p.R1638W	ENST00000335473	30/44	227	202	25	223	223	0	strelka-varscan-mutect	MYO18B,missense_variant,p.Arg1638Trp,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,missense_variant,p.Arg1639Trp,ENST00000407587,;MYO18B,missense_variant,p.Arg1638Trp,ENST00000536101,;CTA-125H2.2,intron_variant,,ENST00000609889,;CTA-125H2.2,intron_variant,,ENST00000608257,;CTA-125H2.2,upstream_gene_variant,,ENST00000453457,;CTA-125H2.2,upstream_gene_variant,,ENST00000600211,;CTA-125H2.2,upstream_gene_variant,,ENST00000609275,;CTA-125H2.2,upstream_gene_variant,,ENST00000597284,;CTA-125H2.2,upstream_gene_variant,,ENST00000609157,;CTA-125H2.2,upstream_gene_variant,,ENST00000608507,;CTA-125H2.2,upstream_gene_variant,,ENST00000595093,;CTA-125H2.2,upstream_gene_variant,,ENST00000608115,;CTA-125H2.2,upstream_gene_variant,,ENST00000597548,;CTA-125H2.2,upstream_gene_variant,,ENST00000594585,;CTA-125H2.2,upstream_gene_variant,,ENST00000595102,;CTA-125H2.2,upstream_gene_variant,,ENST00000594856,;CTA-125H2.2,upstream_gene_variant,,ENST00000599080,;CTA-125H2.2,upstream_gene_variant,,ENST00000594542,;CTA-125H2.2,upstream_gene_variant,,ENST00000600269,;CTA-125H2.2,upstream_gene_variant,,ENST00000609570,;CTA-125H2.2,upstream_gene_variant,,ENST00000600903,;CTA-125H2.2,upstream_gene_variant,,ENST00000599792,;CTA-125H2.2,upstream_gene_variant,,ENST00000609823,;CTA-125H2.2,upstream_gene_variant,,ENST00000607895,;MYO18B,non_coding_transcript_exon_variant,,ENST00000536204,;MYO18B,non_coding_transcript_exon_variant,,ENST00000534908,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	T	ENST00000335473	Transcript	missense_variant	5162/8565	4912/7704	1638/2567	R/W	Cgg/Tgg	rs200771643	1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5	deleterious(0.01)		30/44		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF372																	MODERATE	1	SNV	1			1										PASS		rs200771643	.												T	3	4	98	25902701	25902701	C	T	1	0	0	0	0	1	0	0	0	10067	643	23	1		1	MYO18B	22	25902701	Missense_Mutation	SNP	C	C3N-02422_TP	6378391	25902701	24915767	56	30916											
GATA1	0	.	GRCh38	chrX	48791905	48791905	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggggctcaccatatgcCggctgggcctacggcaagac	8	5	14	14	2	1	1	1	0	0	1	1	1	1	1	4	5	2	3	4	5	3	2	rs782123071		C3N-02422_TP	C3N-02422_NB	C	C																c.282C>T	p.=	p.A94A	ENST00000376670	3/6	196	169	27	189	188	1	strelka-varscan-mutect	GATA1,synonymous_variant,p.=,ENST00000376670,NM_002049.3;GATA1,synonymous_variant,p.=,ENST00000376665,;	T	ENST00000376670	Transcript	synonymous_variant	393/1497	282/1242	94/413	A	gcC/gcT	rs782123071,COSM291809	1		1	GATA1	HGNC	HGNC:4170	protein_coding	YES	CCDS14305.1	ENSP00000365858	P15976		UPI000012B0FA	NM_002049.3			3/6		hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF190											0,1						LOW	1	SNV	1		0,1	1										PASS		rs782123071	.												T	2	4	98	48791905	48791905	C	T	1	0	0	0	0	0	0	0	1	6123	639	23	1		1	GATA1	23	48791905	Silent	SNP	C	C3N-02422_TP		48791905	107248990	57	30917											
TEX13C	0	.	GRCh38	chrX	125320758	125320758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattacatgcctgaaccccaGagtggcagggtccagggcat	10	8	12	11	0	0	2	0	1	0	1	1	2	1	2	4	3	3	2	4	3	3	2	rs749280410		C3N-02422_TP	C3N-02422_NB	G	G																c.639G>A	p.=	p.Q213Q	ENST00000632600	1/1	356	296	60	273	273	0	strelka-varscan-mutect	TEX13C,synonymous_variant,p.=,ENST00000632600,NM_001195272.1;	A	ENST00000632600	Transcript	synonymous_variant	639/5095	639/2982	213/993	Q	caG/caA	rs749280410	1		1	TEX13C	HGNC	HGNC:52277	protein_coding	YES		ENSP00000488022	A0A0J9YWL9		UPI000016014C	NM_001195272.1			1/1		hmmpanther:PTHR23111,hmmpanther:PTHR23111:SF32																	LOW	1	SNV				1										PASS		rs749280410	.												A	2	1	98	125320758	125320758	G	A	1	0	0	0	0	0	0	0	1	16199	933	33	3		3	TEX13C	23	125320758	Silent	SNP	G	C3N-02422_TP	76528853	125320758	30720137	58	30918											
PLXNB3	0	.	GRCh38	chrX	153768257	153768257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccacgtaggattccccCgagtcgtacccctgtggcga	6	8	11	16	4	0	0	0	0	0	0	2	3	1	1	6	2	2	2	6	2	2	3	rs367873902		C3N-02422_TP	C3N-02422_NB	C	C																c.1164C>T	p.=	p.P388P	ENST00000538966	5/37	53	43	10	29	29	0	strelka-varscan-mutect	PLXNB3,synonymous_variant,p.=,ENST00000538966,NM_001163257.1;PLXNB3,synonymous_variant,p.=,ENST00000361971,NM_005393.2;U52111.14,upstream_gene_variant,,ENST00000434284,;U52111.14,upstream_gene_variant,,ENST00000416854,;	T	ENST00000538966	Transcript	synonymous_variant	1435/6377	1164/5799	388/1932	P	ccC/ccT	rs367873902,COSM3406112,COSM3406113,COSM3406114	1		1	PLXNB3	HGNC	HGNC:9105	protein_coding	YES	CCDS55536.1	ENSP00000442736	Q9ULL4		UPI0001AFF680	NM_001163257.1			5/37		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,SMART_domains:SM00630,Superfamily_domains:SSF101912											0,1,1,1						LOW		SNV	5		0,1,1,1	1										PASS		rs367873902	.												T	2	4	98	153768257	153768257	C	T	1	0	0	0	0	0	0	0	1	12231	639	23	1		1	PLXNB3	23	153768257	Silent	SNP	C	C3N-02422_TP	28447499	153768257	2272638	59	30919											
GABRD	0	.	GRCh38	chr1	2029617	2029617	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcctccctgccacgggcatCagccatcaaggcactggacg	8	6	10	17	2	2	0	2	0	0	0	4	1	4	1	4	3	2	2	4	3	1	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.914C>G	p.Ser305Ter	p.S305*	ENST00000378585	8/9	422	393	29	490	490	0	strelka-varscan-mutect	GABRD,stop_gained,p.Ser305Ter,ENST00000378585,NM_000815.4;	G	ENST00000378585	Transcript	stop_gained	1014/1928	914/1359	305/452	S/*	tCa/tGa		1		1	GABRD	HGNC	HGNC:4084	protein_coding	YES	CCDS36.1	ENSP00000367848	O14764		UPI0000070D0A	NM_000815.4			8/9		Gene3D:1.20.58.390,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF34,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	99	2029617	2029617	C	G	1	0	0	0	0	0	1	0	0	6040	838	29	4		4	GABRD	1	2029617	Nonsense_Mutation	SNP	C	C3N-02423_TP		2029617	246926805	1	30920											
MMEL1	0	.	GRCh38	chr1	2606341	2606341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagttcatcagcgccagCtgccgctccagctcccactc	6	9	9	17	2	2	1	2	1	0	0	5	1	4	1	4	0	4	4	4	0	0	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.657G>T	p.Gln219His	p.Q219H	ENST00000378412	8/24	134	125	9	146	146	0	strelka-varscan-mutect	MMEL1,missense_variant,p.Gln219His,ENST00000378412,NM_033467.3;MMEL1,intron_variant,,ENST00000502556,;MMEL1,missense_variant,p.Gln219His,ENST00000504800,;MMEL1,non_coding_transcript_exon_variant,,ENST00000509374,;	A	ENST00000378412	Transcript	missense_variant	819/2849	657/2340	219/779	Q/H	caG/caT		1		-1	MMEL1	HGNC	HGNC:14668	protein_coding	YES	CCDS30569.2	ENSP00000367668	Q495T6		UPI0000047596	NM_033467.3	tolerated(0.13)		8/24		Pfam_domain:PF05649,hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF141,Superfamily_domains:SSF55486																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	99	2606341	2606341	C	A	1	0	0	0	0	1	0	0	0	9609	796	28	2		2	MMEL1	1	2606341	Missense_Mutation	SNP	C	C3N-02423_TP	576724	2606341	246350081	2	30921											
C1orf174	0	.	GRCh38	chr1	3890015	3890015	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctttggctctgaaatgcAtttttctgaactctcgtctg	7	17	7	10	1	5	2	0	2	5	0	6	2	5	2	0	1	2	2	0	1	2	3	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.677T>C	p.Met226Thr	p.M226T	ENST00000361605	4/4	279	253	26	297	297	0	strelka-varscan-mutect	C1orf174,missense_variant,p.Met226Thr,ENST00000361605,NM_207356.2;DFFB,downstream_gene_variant,,ENST00000338895,NM_001320136.1,NM_001282669.1;DFFB,downstream_gene_variant,,ENST00000378209,NM_004402.3;C1orf174,non_coding_transcript_exon_variant,,ENST00000486765,;C1orf174,non_coding_transcript_exon_variant,,ENST00000474140,;DFFB,downstream_gene_variant,,ENST00000491998,;DFFB,downstream_gene_variant,,ENST00000339350,NM_001320132.1;DFFB,downstream_gene_variant,,ENST00000468793,;DFFB,downstream_gene_variant,,ENST00000477548,;DFFB,downstream_gene_variant,,ENST00000378206,;DFFB,downstream_gene_variant,,ENST00000475969,;DFFB,downstream_gene_variant,,ENST00000461150,;	G	ENST00000361605	Transcript	missense_variant	776/1666	677/732	226/243	M/T	aTg/aCg		1		-1	C1orf174	HGNC	HGNC:27915	protein_coding	YES	CCDS53.1	ENSP00000355306	Q8IYL3		UPI00001C1D98	NM_207356.2	deleterious(0)		4/4		Pfam_domain:PF15772,hmmpanther:PTHR28491,hmmpanther:PTHR28491:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	3890015	3890015	A	G	1	0	0	0	0	1	0	0	0	1974	217	8	5		5	C1orf174	1	3890015	Missense_Mutation	SNP	A	C3N-02423_TP	1283674	3890015	245066407	3	30922											
NOL9	0	.	GRCh38	chr1	6545127	6545127	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctttttttctctcttctGatgccaacagacctcaaggc	7	16	5	13	0	4	2	1	1	3	1	6	2	5	2	3	1	2	0	3	1	2	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.798C>G	p.Ile266Met	p.I266M	ENST00000377705	4/12	200	187	13	233	233	0	strelka-varscan-mutect	NOL9,missense_variant,p.Ile266Met,ENST00000377705,NM_024654.4;RNU6-731P,downstream_gene_variant,,ENST00000517213,;NOL9,upstream_gene_variant,,ENST00000464383,;NOL9,downstream_gene_variant,,ENST00000464665,;NOL9,downstream_gene_variant,,ENST00000460777,;RP11-58A11.2,upstream_gene_variant,,ENST00000456162,;	C	ENST00000377705	Transcript	missense_variant	831/6649	798/2109	266/702	I/M	atC/atG		1		-1	NOL9	HGNC	HGNC:26265	protein_coding	YES	CCDS80.1	ENSP00000366934	Q5SY16		UPI00003664C8	NM_024654.4	deleterious(0)		4/12		hmmpanther:PTHR12755:SF3,hmmpanther:PTHR12755																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	6545127	6545127	G	C	1	0	0	0	0	1	0	0	0	10572	1280	45	4		4	NOL9	1	6545127	Missense_Mutation	SNP	G	C3N-02423_TP	2655112	6545127	242411295	4	30923											
SLC45A1	0	.	GRCh38	chr1	8339552	8339552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctctacttcatcgcctatCtcgccttcggcctggggacc	4	11	8	18	3	3	0	1	0	2	0	6	1	3	1	5	3	1	0	5	3	2	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1936C>T	p.Leu646Phe	p.L646F	ENST00000471889	8/9	399	377	22	442	442	0	strelka-varscan-mutect	SLC45A1,missense_variant,p.Leu646Phe,ENST00000471889,NM_001080397.2;SLC45A1,missense_variant,p.Leu612Phe,ENST00000289877,;SLC45A1,downstream_gene_variant,,ENST00000481265,;SLC45A1,non_coding_transcript_exon_variant,,ENST00000497660,;	T	ENST00000471889	Transcript	missense_variant	2219/2784	1936/2349	646/782	L/F	Ctc/Ttc		1		1	SLC45A1	HGNC	HGNC:17939	protein_coding	YES	CCDS30577.2	ENSP00000418096		A0A0A0MT80	UPI000045893A	NM_001080397.2	tolerated(0.08)		8/9		Gene3D:1.20.1250.20,hmmpanther:PTHR19432,hmmpanther:PTHR19432:SF6,Low_complexity_(Seg):seg,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	99	8339552	8339552	C	T	1	0	0	0	0	1	0	0	0	14917	913	32	3		3	SLC45A1	1	8339552	Missense_Mutation	SNP	C	C3N-02423_TP	1794425	8339552	240616870	5	30924											
MAD2L2	0	.	GRCh38	chr1	11677610	11677610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gattcagctccgggtggcagGacatctgcacacaataccat	11	8	10	12	1	2	0	1	0	1	0	3	2	3	1	2	3	3	3	2	3	2	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.164C>T	p.Ser55Phe	p.S55F	ENST00000235310	6/11	238	222	16	264	264	0	strelka-varscan-mutect	MAD2L2,missense_variant,p.Ser55Phe,ENST00000235310,;MAD2L2,missense_variant,p.Ser55Phe,ENST00000376692,NM_006341.3;MAD2L2,missense_variant,p.Ser55Phe,ENST00000456915,;MAD2L2,missense_variant,p.Ser55Phe,ENST00000376672,;MAD2L2,missense_variant,p.Ser55Phe,ENST00000376667,NM_001127325.1;MAD2L2,missense_variant,p.Ser55Phe,ENST00000376669,;MAD2L2,missense_variant,p.Ser85Phe,ENST00000445656,;FBXO6,downstream_gene_variant,,ENST00000376753,NM_018438.5;FBXO6,downstream_gene_variant,,ENST00000449067,;MAD2L2,non_coding_transcript_exon_variant,,ENST00000376655,;MAD2L2,non_coding_transcript_exon_variant,,ENST00000376664,;	A	ENST00000235310	Transcript	missense_variant	1093/1860	164/636	55/211	S/F	tCc/tTc		1		-1	MAD2L2	HGNC	HGNC:6764	protein_coding	YES	CCDS134.1	ENSP00000235310	Q9UI95	A0A024R4I4	UPI0000000DF1		deleterious(0.01)		6/11		PROSITE_profiles:PS50815,hmmpanther:PTHR11842,hmmpanther:PTHR11842:SF10,Pfam_domain:PF02301,Gene3D:1go4B00,Superfamily_domains:0040144																	MODERATE		SNV	2			1										PASS		.	.												A	3	1	99	11677610	11677610	G	A	1	0	0	0	0	1	0	0	0	9066	1188	41	3		3	MAD2L2	1	11677610	Missense_Mutation	SNP	G	C3N-02423_TP	3338058	11677610	237278812	6	30925											
PRDM2	0	.	GRCh38	chr1	13781946	13781946	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacccaaaaatggcgtggTggttttagataactctggga	12	10	12	7	1	1	1	0	0	1	1	1	2	1	2	1	4	2	2	1	4	5	3	rs756815524		C3N-02423_TP	C3N-02423_NB	T	T																c.4151T>G	p.Val1384Gly	p.V1384G	ENST00000235372	8/10	327	309	18	359	358	1	strelka-varscan-mutect	PRDM2,missense_variant,p.Val1384Gly,ENST00000235372,NM_012231.4;PRDM2,missense_variant,p.Val1384Gly,ENST00000311066,NM_015866.4;PRDM2,missense_variant,p.Val1183Gly,ENST00000413440,NM_001007257.2;PRDM2,missense_variant,p.Val1183Gly,ENST00000343137,;PRDM2,intron_variant,,ENST00000376048,NM_001135610.1;PRDM2,intron_variant,,ENST00000503842,;PRDM2,intron_variant,,ENST00000505823,;PRDM2,downstream_gene_variant,,ENST00000487453,;PRDM2,downstream_gene_variant,,ENST00000407521,;PRDM2,intron_variant,,ENST00000491134,;	G	ENST00000235372	Transcript	missense_variant	5007/7957	4151/5157	1384/1718	V/G	gTg/gGg	rs756815524	1		1	PRDM2	HGNC	HGNC:9347	protein_coding	YES	CCDS150.1	ENSP00000235372	Q13029		UPI000013C9CD	NM_012231.4	deleterious(0)		8/10		PIRSF_domain:PIRSF002395																	MODERATE	1	SNV	1			1										PASS		rs756815524	.												G	3	3	99	13781946	13781946	T	G	1	0	0	0	0	1	0	0	0	12589	1696	59	5		5	PRDM2	1	13781946	Missense_Mutation	SNP	T	C3N-02423_TP	2104336	13781946	235174476	7	30926											
PADI4	0	.	GRCh38	chr1	17331113	17331113	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtagaggtgaccctgacGatgaaagtggccagtggtag	10	7	18	6	1	0	4	0	3	0	1	0	5	0	4	2	5	0	2	2	5	3	2	rs750711340		C3N-02423_TP	C3N-02423_NB	G	G																c.237G>T	p.=	p.T79T	ENST00000375448	2/16	350	317	33	329	329	0	strelka-varscan-mutect	PADI4,synonymous_variant,p.=,ENST00000375448,NM_012387.2;PADI4,synonymous_variant,p.=,ENST00000375453,;AC004824.1,intron_variant,,ENST00000624583,;	T	ENST00000375448	Transcript	synonymous_variant	263/2267	237/1992	79/663	T	acG/acT	rs750711340,COSM3478837	1		1	PADI4	HGNC	HGNC:18368	protein_coding	YES	CCDS180.1	ENSP00000364597	Q9UM07		UPI000013DFF1	NM_012387.2			2/16		Pfam_domain:PF08526,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF3,Superfamily_domains:SSF49503											0,1						LOW	1	SNV	1		0,1	1										PASS		rs750711340	.												T	2	4	99	17331113	17331113	G	T	1	0	0	0	0	0	0	0	1	11458	1045	37	1		1	PADI4	1	17331113	Silent	SNP	G	C3N-02423_TP	3549167	17331113	231625309	8	30927											
HSPG2	0	.	GRCh38	chr1	21836830	21836830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccatcctgcacgctgtgacCcggaggcagctgaccccctt	6	7	10	18	2	0	2	0	2	0	0	1	3	1	3	5	2	2	4	5	2	0	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.10327G>T	p.Gly3443Cys	p.G3443C	ENST00000374695	75/97	250	228	22	288	288	0	strelka-varscan-mutect	HSPG2,missense_variant,p.Gly3443Cys,ENST00000374695,NM_005529.6,NM_001291860.1;HSPG2,intron_variant,,ENST00000374676,;HSPG2,upstream_gene_variant,,ENST00000635682,;HSPG2,non_coding_transcript_exon_variant,,ENST00000471322,;	A	ENST00000374695	Transcript	missense_variant	10407/14327	10327/13176	3443/4391	G/C	Ggt/Tgt		1		-1	HSPG2	HGNC	HGNC:5273	protein_coding	YES	CCDS30625.1	ENSP00000363827	P98160		UPI0000212778	NM_005529.6,NM_001291860.1	deleterious(0)		75/97		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF273,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs1291417277	.												A	3	1	99	21836830	21836830	C	A	1	0	0	0	0	1	0	0	0	7326	623	22	2		2	HSPG2	1	21836830	Missense_Mutation	SNP	C	C3N-02423_TP	4505717	21836830	227119592	9	30928											
GRIK3	0	.	GRCh38	chr1	37034061	37034061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcacacgaggagcccggcCcagtattcccaaaccagact	11	4	10	16	3	0	1	0	0	0	1	1	3	1	2	4	2	2	2	4	2	2	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.48G>T	p.Trp16Cys	p.W16C	ENST00000373091	1/16	175	155	20	166	166	0	strelka-varscan-mutect	GRIK3,missense_variant,p.Trp16Cys,ENST00000373091,NM_000831.3;GRIK3,missense_variant,p.Trp16Cys,ENST00000373093,;	A	ENST00000373091	Transcript	missense_variant	65/9101	48/2760	16/919	W/C	tgG/tgT		1		-1	GRIK3	HGNC	HGNC:4581	protein_coding	YES	CCDS416.1	ENSP00000362183	Q13003		UPI000013E311	NM_000831.3	tolerated_low_confidence(0.11)		1/16		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF174,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	37034061	37034061	C	A	1	0	0	0	0	1	0	0	0	6657	624	22	2		2	GRIK3	1	37034061	Missense_Mutation	SNP	C	C3N-02423_TP	15197231	37034061	211922361	10	30929											
HIVEP3	0	.	GRCh38	chr1	41512965	41512965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccaaggcccacttccctgGcggcgctgaccgtggtggtg	5	7	15	14	3	0	1	0	1	0	0	1	1	1	1	4	5	1	1	4	5	1	1	rs372441501		C3N-02423_TP	C3N-02423_NB	G	G																c.6256C>A	p.Pro2086Thr	p.P2086T	ENST00000372583	8/9	143	123	20	142	142	0	strelka-varscan-mutect	HIVEP3,missense_variant,p.Pro2086Thr,ENST00000372584,NM_001127714.2;HIVEP3,missense_variant,p.Pro2086Thr,ENST00000372583,NM_024503.4;HIVEP3,non_coding_transcript_exon_variant,,ENST00000460604,;	T	ENST00000372583	Transcript	missense_variant	7142/12193	6256/7221	2086/2406	P/T	Cca/Aca	rs372441501	1		-1	HIVEP3	HGNC	HGNC:13561	protein_coding	YES	CCDS463.1	ENSP00000361664	Q5T1R4		UPI000013CC24	NM_024503.4	deleterious(0.04)		8/9		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF50																	MODERATE	1	SNV	1			1										PASS		rs372441501	.												T	3	4	99	41512965	41512965	G	T	1	0	0	0	0	1	0	0	0	7077	1203	42	2		2	HIVEP3	1	41512965	Missense_Mutation	SNP	G	C3N-02423_TP	4478904	41512965	207443457	11	30930											
FAM159A	0	.	GRCh38	chr1	52656909	52656909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccgcagctggagagcaatGaggggcaggctgtgaactcc	10	5	15	11	1	0	3	0	2	0	1	1	4	1	3	2	4	3	5	2	4	2	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.442G>A	p.Glu148Lys	p.E148K	ENST00000517870	3/3	151	140	11	203	203	0	strelka-varscan-mutect	FAM159A,missense_variant,p.Glu148Lys,ENST00000517870,NM_001042693.1;FAM159A,intron_variant,,ENST00000401050,;FAM159A,intron_variant,,ENST00000440303,;FAM159A,intron_variant,,ENST00000424164,;	A	ENST00000517870	Transcript	missense_variant	592/748	442/573	148/190	E/K	Gag/Aag		1		1	FAM159A	HGNC	HGNC:28757	protein_coding	YES	CCDS41336.1	ENSP00000429726	Q6UWV7		UPI0000204364	NM_001042693.1	tolerated(0.1)		3/3		hmmpanther:PTHR31395,hmmpanther:PTHR31395:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	52656909	52656909	G	A	1	0	0	0	0	1	0	0	0	5315	1291	45	3		3	FAM159A	1	52656909	Missense_Mutation	SNP	G	C3N-02423_TP	11143944	52656909	196299513	12	30931											
ADGRL4	0	.	GRCh38	chr1	78946311	78946311	+	Frame_Shift_Del	DEL	T	T	-																															tcattagtgataaacctgtcTtggttactgctggatctgaa																								novel		C3N-02423_TP	C3N-02423_NB	T	T																c.288delA	p.Asp97ThrfsTer12	p.D97Tfs*12	ENST00000370742	3/15	109	96	13	143	143	0	sindel-varindel-pindel	ADGRL4,frameshift_variant,p.Asp97ThrfsTer12,ENST00000370742,NM_022159.3;	-	ENST00000370742	Transcript	frameshift_variant	352/3527	288/2073	96/690	Q/X	caA/ca		1		-1	ADGRL4	HGNC	HGNC:20822	protein_coding	YES	CCDS41352.1	ENSP00000359778	Q9HBW9		UPI00004561FF	NM_022159.3			3/15		PROSITE_profiles:PS50026,hmmpanther:PTHR12011:SF59,hmmpanther:PTHR12011,Gene3D:2.40.155.10,SMART_domains:SM00181,SMART_domains:SM00179																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	99	78946311	78946311	T	-	1	0	1	0	1	0	0	0	0	378	1606	56	0		0	ADGRL4	1	78946311	Frame_Shift_Del	DEL	T	C3N-02423_TP	26289402	78946311	170010111	13	30932											
COL24A1	0	.	GRCh38	chr1	85737507	85737507	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtcaatccagtattttccTaataatttatagtaaaacat	15	15	5	6	0	1	0	1	0	0	0	3	0	3	0	2	1	1	2	2	1	8	9			C3N-02423_TP	C3N-02423_NB	T	T																c.4673-2A>T		p.X1558_splice	ENST00000370571		133	118	15	123	123	0	strelka-varscan-mutect	COL24A1,splice_acceptor_variant,,ENST00000370571,NM_152890.5;COL24A1,splice_acceptor_variant,,ENST00000426639,;COL24A1,splice_acceptor_variant,,ENST00000473734,;	A	ENST00000370571	Transcript	splice_acceptor_variant	-/6825	4673/5145	1558/1714			COSM682877	1		-1	COL24A1	HGNC	HGNC:20821	protein_coding	YES	CCDS41353.1	ENSP00000359603	Q17RW2		UPI000013E81F	NM_152890.5				57/59												1						HIGH	1	SNV	1		1	1										PASS		rs1488737207	.												A	5	1	99	85737507	85737507	T	A	1	0	0	0	0	0	0	1	0	3471	1536	53	4		4	COL24A1	1	85737507	Splice_Site	SNP	T	C3N-02423_TP	6791196	85737507	163218915	14	30933											
CLCA2	0	.	GRCh38	chr1	86439073	86439073	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatcagctaaaacagacatCagcatttgttcagggcttaa	14	11	8	8	0	3	1	3	0	0	1	3	1	3	1	0	1	3	5	0	1	4	5	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1170C>T	p.=	p.I390I	ENST00000370565	7/14	212	188	24	270	270	0	strelka-mutect	CLCA2,synonymous_variant,p.=,ENST00000370565,NM_006536.5;CLCA2,upstream_gene_variant,,ENST00000490884,;	T	ENST00000370565	Transcript	synonymous_variant	1332/4025	1170/2832	390/943	I	atC/atT		1		1	CLCA2	HGNC	HGNC:2016	protein_coding	YES	CCDS708.1	ENSP00000359596	Q9UQC9		UPI0000035838	NM_006536.5			7/14		Gene3D:3.40.50.410,Pfam_domain:PF08434,PROSITE_profiles:PS50234,hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF66,SMART_domains:SM00327,Superfamily_domains:SSF53300,TIGRFAM_domain:TIGR00868																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	86439073	86439073	C	T	1	0	0	0	0	0	0	0	1	3222	816	29	3		3	CLCA2	1	86439073	Silent	SNP	C	C3N-02423_TP	701566	86439073	162517349	15	30934											
SLC6A17	0	.	GRCh38	chr1	110194749	110194749	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatcatcgacaccttcaaGgtgcccaaggagatgttcac	11	8	8	14	1	3	1	3	0	0	1	4	3	3	1	3	2	1	1	3	2	2	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1470G>A	p.=	p.K490K	ENST00000331565	9/12	440	398	42	481	481	0	strelka-mutect	SLC6A17,synonymous_variant,p.=,ENST00000331565,NM_001010898.2;SLC6A17,non_coding_transcript_exon_variant,,ENST00000465159,;	A	ENST00000331565	Transcript	synonymous_variant	1955/6427	1470/2184	490/727	K	aaG/aaA		1		1	SLC6A17	HGNC	HGNC:31399	protein_coding	YES	CCDS30799.1	ENSP00000330199	Q9H1V8		UPI0000470B3D	NM_001010898.2			9/12		PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF102,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	99	110194749	110194749	G	A	1	0	0	0	0	0	0	0	1	14963	991	35	3		3	SLC6A17	1	110194749	Silent	SNP	G	C3N-02423_TP	23755676	110194749	138761673	16	30935											
CTTNBP2NL	0	.	GRCh38	chr1	112456906	112456906	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttcagtcccaagcagatCaggaccaacaagccagtggc	14	6	9	12	0	2	1	2	0	0	1	3	2	3	2	3	2	3	1	3	2	4	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1414C>T	p.Gln472Ter	p.Q472*	ENST00000271277	6/6	296	279	17	291	291	0	strelka-varscan-mutect	CTTNBP2NL,stop_gained,p.Gln472Ter,ENST00000271277,NM_018704.2;CTTNBP2NL,downstream_gene_variant,,ENST00000441739,;MIR4256,downstream_gene_variant,,ENST00000636356,;CTTNBP2NL,non_coding_transcript_exon_variant,,ENST00000607039,;	T	ENST00000271277	Transcript	stop_gained	1639/5897	1414/1920	472/639	Q/*	Cag/Tag		1		1	CTTNBP2NL	HGNC	HGNC:25330	protein_coding	YES	CCDS845.1	ENSP00000271277	Q9P2B4	A0A024R0C7	UPI000006ED23	NM_018704.2			6/6		Low_complexity_(Seg):seg,hmmpanther:PTHR23166																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	99	112456906	112456906	C	T	1	0	0	0	0	0	1	0	0	3855	827	29	3		3	CTTNBP2NL	1	112456906	Nonsense_Mutation	SNP	C	C3N-02423_TP	2262157	112456906	136499516	17	30936											
PTGFRN	0	.	GRCh38	chr1	116986805	116986805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctctccctcccagtgctGaacgccttcaagtatccctt	7	12	6	16	1	2	1	1	1	1	0	6	2	5	1	4	0	2	2	4	0	3	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2478G>A	p.=	p.L826L	ENST00000393203	9/9	166	147	19	168	168	0	strelka-varscan-mutect	PTGFRN,synonymous_variant,p.=,ENST00000393203,NM_020440.3;PTGFRN,upstream_gene_variant,,ENST00000497385,;	A	ENST00000393203	Transcript	synonymous_variant	2625/6178	2478/2640	826/879	L	ctG/ctA		1		1	PTGFRN	HGNC	HGNC:9601	protein_coding	YES	CCDS890.1	ENSP00000376899	Q9P2B2		UPI000012ABC4	NM_020440.3			9/9		hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF3																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	116986805	116986805	G	A	1	0	0	0	0	0	0	0	1	12906	1304	45	3		3	PTGFRN	1	116986805	Silent	SNP	G	C3N-02423_TP	4529899	116986805	131969617	18	30937											
FCGR1B	0	.	GRCh38	chr1	121096145	121096145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggaaggagccccagggggCcacgtagcagcggctcagtt	8	4	16	13	3	1	0	1	0	0	0	1	2	1	2	4	5	3	4	4	5	2	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.836C>A	p.Ala279Asp	p.A279D	ENST00000369384	5/5	196	180	16	192	192	0	varscan-mutect	FCGR1B,missense_variant,p.Ala279Asp,ENST00000369384,NM_001017986.3;FCGR1B,missense_variant,p.Ala187Asp,ENST00000369383,NM_001004340.3;FCGR1B,downstream_gene_variant,,ENST00000616817,;FCGR1B,downstream_gene_variant,,ENST00000623603,NM_001244910.1;FCGR1B,downstream_gene_variant,,ENST00000369178,;RP11-439A17.9,intron_variant,,ENST00000457996,;RP11-439A17.10,intron_variant,,ENST00000426275,;FCGR1B,downstream_gene_variant,,ENST00000471609,;FCGR1B,downstream_gene_variant,,ENST00000466915,;FCGR1B,downstream_gene_variant,,ENST00000453173,;FCGR1B,downstream_gene_variant,,ENST00000615565,;FCGR1B,downstream_gene_variant,,ENST00000472543,;	A	ENST00000369384	Transcript	missense_variant	879/1044	836/843	279/280	A/D	gCc/gAc		1		1	FCGR1B	HGNC	HGNC:3614	protein_coding	YES	CCDS72845.1	ENSP00000358391		A0A0A0MRM3	UPI000274710C	NM_001017986.3	deleterious_low_confidence(0)		5/5																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	121096145	121096145	C	A	1	0	0	0	0	1	0	0	0	5643	739	26	2		2	FCGR1B	1	121096145	Missense_Mutation	SNP	C	C3N-02423_TP	4109340	121096145	127860277	19	30938											
TCHH	0	.	GRCh38	chr1	152109877	152109877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctcctgctgcagctcctCttcctcccgacattgcctct	3	14	5	19	1	2	0	0	0	2	0	7	1	7	0	6	0	4	3	6	0	0	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.3340G>A	p.Glu1114Lys	p.E1114K	ENST00000614923	3/3	430	406	24	428	427	1	varscan-mutect	TCHH,missense_variant,p.Glu1114Lys,ENST00000614923,NM_007113.3;TCHH,missense_variant,p.Glu1114Lys,ENST00000368804,;	T	ENST00000614923	Transcript	missense_variant	3435/6995	3340/5832	1114/1943	E/K	Gag/Aag		1		-1	TCHH	HGNC	HGNC:11791	protein_coding	YES	CCDS41396.1	ENSP00000480484	Q07283		UPI0000458A5E	NM_007113.3	deleterious_low_confidence(0)		3/3		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR34855:SF1,hmmpanther:PTHR34855																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	99	152109877	152109877	C	T	1	0	0	0	0	1	0	0	0	16107	922	32	3		3	TCHH	1	152109877	Missense_Mutation	SNP	C	C3N-02423_TP	31013732	152109877	96846545	20	30939											
HRNR	0	.	GRCh38	chr1	152220512	152220512	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatccatgttgtccctggcTagaggagtgacctgagccag	9	9	13	10	0	0	4	0	2	0	2	2	5	2	5	4	2	1	2	4	2	1	2	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.1117A>G	p.Ser373Gly	p.S373G	ENST00000368801	3/3	217	181	36	208	208	0	strelka-varscan-mutect	HRNR,missense_variant,p.Ser373Gly,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	C	ENST00000368801	Transcript	missense_variant	1193/9623	1117/8553	373/2850	S/G	Agc/Ggc		1		-1	HRNR	HGNC	HGNC:20846	protein_coding	YES	CCDS30859.1	ENSP00000357791	Q86YZ3		UPI00001D7CAD	NM_001009931.2	tolerated(0.54)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF25																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	152220512	152220512	T	C	1	0	0	0	0	1	0	0	0	7254	1522	53	5		5	HRNR	1	152220512	Missense_Mutation	SNP	T	C3N-02423_TP	110635	152220512	96735910	21	30940											
LCE2B	0	.	GRCh38	chr1	152686914	152686914	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaagtgtaccccaaaatGtccacctaagtgtcccccta	11	9	5	16	0	0	0	0	0	0	0	3	0	3	0	7	0	1	1	7	0	6	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.71G>C	p.Cys24Ser	p.C24S	ENST00000368780	2/2	268	200	68	252	252	0	strelka-varscan-mutect	LCE2B,missense_variant,p.Cys24Ser,ENST00000368780,NM_014357.4;	C	ENST00000368780	Transcript	missense_variant	125/612	71/333	24/110	C/S	tGt/tCt		1		1	LCE2B	HGNC	HGNC:16610	protein_coding	YES	CCDS1020.1	ENSP00000357769	O14633		UPI000006D1D2	NM_014357.4	tolerated_low_confidence(0.5)		2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF50,hmmpanther:PTHR23263,Pfam_domain:PF14672,Prints_domain:PR00021																	MODERATE	1	SNV	1			1										PASS		rs1444083566	.												C	3	2	99	152686914	152686914	G	C	1	0	0	0	0	1	0	0	0	8571	1377	48	4		4	LCE2B	1	152686914	Missense_Mutation	SNP	G	C3N-02423_TP	466402	152686914	96269508	22	30941											
KPRP	0	.	GRCh38	chr1	152760473	152760473	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtttccctaactactgCaccccaccccgccgctctga	8	8	7	18	2	1	1	0	1	1	0	2	2	2	1	6	1	3	3	6	1	3	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.885C>A	p.Cys295Ter	p.C295*	ENST00000606109	1/1	189	173	16	148	148	0	strelka-varscan-mutect	KPRP,stop_gained,p.Cys295Ter,ENST00000606109,NM_001025231.1;	A	ENST00000606109	Transcript	stop_gained	913/2492	885/1740	295/579	C/*	tgC/tgA		1		1	KPRP	HGNC	HGNC:31823	protein_coding	YES	CCDS30862.1	ENSP00000475216	Q5T749		UPI0000199942	NM_001025231.1			1/1		hmmpanther:PTHR12241:SF98,hmmpanther:PTHR12241																	HIGH	1	SNV				1										PASS		rs893702052	.												A	4	1	99	152760473	152760473	C	A	1	0	0	0	0	0	1	0	0	8316	718	25	2		2	KPRP	1	152760473	Nonsense_Mutation	SNP	C	C3N-02423_TP	73559	152760473	96195949	23	30942											
PGLYRP4	0	.	GRCh38	chr1	153337211	153337211	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgaaggtaatgcccaGggcaatgtcatcgtagccag	11	7	12	11	1	1	1	1	1	0	0	2	1	1	1	3	2	2	3	3	2	4	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.913C>G	p.Leu305Val	p.L305V	ENST00000359650	8/9	280	262	18	246	246	0	strelka-varscan-mutect	PGLYRP4,missense_variant,p.Leu301Val,ENST00000368739,;PGLYRP4,missense_variant,p.Leu305Val,ENST00000359650,NM_020393.3;	C	ENST00000359650	Transcript	missense_variant	978/1834	913/1122	305/373	L/V	Ctg/Gtg		1		-1	PGLYRP4	HGNC	HGNC:30015	protein_coding	YES	CCDS30871.1	ENSP00000352672	Q96LB8		UPI000013F78A	NM_020393.3	deleterious(0.03)		8/9		hmmpanther:PTHR11022:SF40,hmmpanther:PTHR11022,Gene3D:3.40.80.10,Pfam_domain:PF01510,SMART_domains:SM00701,SMART_domains:SM00644,Superfamily_domains:SSF55846																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	153337211	153337211	G	C	1	0	0	0	0	1	0	0	0	11885	991	35	4		4	PGLYRP4	1	153337211	Missense_Mutation	SNP	G	C3N-02423_TP	576738	153337211	95619211	24	30943											
SHC1	0	.	GRCh38	chr1	154967706	154967706	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagtttgggtgggttcctGaggtattgtttgaagcgcaa	8	13	14	6	1	0	2	0	2	0	0	1	2	1	2	2	3	1	5	2	3	3	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.948C>G	p.=	p.L316L	ENST00000448116	7/12	219	191	28	143	143	0	strelka-varscan-mutect	SHC1,synonymous_variant,p.=,ENST00000448116,NM_001130040.1;SHC1,synonymous_variant,p.=,ENST00000368445,NM_183001.4;SHC1,synonymous_variant,p.=,ENST00000368453,NM_003029.4;SHC1,synonymous_variant,p.=,ENST00000368450,NM_001202859.1,NM_001130041.1;SHC1,synonymous_variant,p.=,ENST00000368449,;SHC1,synonymous_variant,p.=,ENST00000414115,;SHC1,synonymous_variant,p.=,ENST00000412170,;SHC1,synonymous_variant,p.=,ENST00000444179,;SHC1,upstream_gene_variant,,ENST00000444664,;SHC1,downstream_gene_variant,,ENST00000366442,;SHC1,upstream_gene_variant,,ENST00000490667,;PYGO2,upstream_gene_variant,,ENST00000483463,;	C	ENST00000448116	Transcript	synonymous_variant	1169/3481	948/1755	316/584	L	ctC/ctG		1		-1	SHC1	HGNC	HGNC:10840	protein_coding	YES	CCDS44233.1	ENSP00000401303	P29353		UPI00002048B4	NM_001130040.1			7/12		PROSITE_profiles:PS01179,hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF2,Pfam_domain:PF00640,Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729																	LOW	1	SNV	1			1										PASS		rs1166337293	.												C	2	2	99	154967706	154967706	G	C	1	0	0	0	0	0	0	0	1	14529	1277	45	4		4	SHC1	1	154967706	Silent	SNP	G	C3N-02423_TP	1630495	154967706	93988716	25	30944											
SPTA1	0	.	GRCh38	chr1	158678514	158678514	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcttagactgaattaaGggtaggtcaggatggttttc	9	16	12	4	0	1	2	1	1	0	1	2	3	1	3	0	4	1	3	0	4	4	7			C3N-02423_TP	C3N-02423_NB	G	G																c.699C>A	p.=	p.P233P	ENST00000368147	6/52	571	505	66	459	458	1	strelka-varscan-mutect	SPTA1,synonymous_variant,p.=,ENST00000368147,NM_003126.2;SPTA1,synonymous_variant,p.=,ENST00000467387,;	T	ENST00000368147	Transcript	synonymous_variant	880/7999	699/7260	233/2419	P	ccC/ccA	COSM529969	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549		UPI0000458906	NM_003126.2			6/52		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF283,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	99	158678514	158678514	G	T	1	0	0	0	0	0	0	0	1	15472	987	35	2		2	SPTA1	1	158678514	Silent	SNP	G	C3N-02423_TP	3710808	158678514	90277908	26	30945											
OR6K3	0	.	GRCh38	chr1	158717281	158717281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgaagaatggagcaagtaCagtaaacatcagtgcaatgg	17	8	11	5	0	1	2	1	1	0	1	1	3	1	3	0	2	4	4	0	2	7	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.835G>T	p.Val279Leu	p.V279L	ENST00000368145	1/1	345	293	52	287	287	0	strelka-varscan-mutect	OR6K3,missense_variant,p.Val295Leu,ENST00000368146,;OR6K3,missense_variant,p.Val279Leu,ENST00000368145,NM_001005327.2;	A	ENST00000368145	Transcript	missense_variant	835/948	835/948	279/315	V/L	Gta/Tta		1		-1	OR6K3	HGNC	HGNC:15030	protein_coding	YES	CCDS30903.2	ENSP00000357127		A0A0C4DFU5	UPI0000061E5F	NM_001005327.2	tolerated(0.06)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF35,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	99	158717281	158717281	C	A	1	0	0	0	0	1	0	0	0	11272	478	17	2		2	OR6K3	1	158717281	Missense_Mutation	SNP	C	C3N-02423_TP	38767	158717281	90239141	27	30946											
ITLN2	0	.	GRCh38	chr1	160950665	160950665	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggacttgttgggcacaTgccagatgcccaggtccttg	6	10	15	10	0	0	1	0	0	0	1	1	2	1	2	3	4	2	2	3	4	0	3	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.488A>C	p.His163Pro	p.H163P	ENST00000368029	5/8	135	112	23	113	113	0	strelka-varscan-mutect	ITLN2,missense_variant,p.His163Pro,ENST00000368029,NM_080878.2;RP11-544M22.1,downstream_gene_variant,,ENST00000356006,;ITLN2,non_coding_transcript_exon_variant,,ENST00000494442,;ITLN2,non_coding_transcript_exon_variant,,ENST00000490489,;	G	ENST00000368029	Transcript	missense_variant	546/1151	488/978	163/325	H/P	cAt/cCt		1		-1	ITLN2	HGNC	HGNC:20599	protein_coding	YES	CCDS1212.1	ENSP00000357008	Q8WWU7		UPI0000048F3E	NM_080878.2	deleterious(0)		5/8		hmmpanther:PTHR16146:SF21,hmmpanther:PTHR16146,Superfamily_domains:SSF56496																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	160950665	160950665	T	G	1	0	0	0	0	1	0	0	0	7817	1464	51	5		5	ITLN2	1	160950665	Missense_Mutation	SNP	T	C3N-02423_TP	2233384	160950665	88005757	28	30947											
KLHDC9	0	.	GRCh38	chr1	161098908	161098908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtggacagggacccctGgtgactgcccccccgccggc	5	4	15	17	3	0	1	0	1	0	0	0	3	0	3	6	5	1	0	6	5	0	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.373G>A	p.Gly125Ser	p.G125S	ENST00000368011	1/4	62	54	8	44	44	0	strelka-varscan-mutect	KLHDC9,missense_variant,p.Gly125Ser,ENST00000392192,NM_001007255.2;KLHDC9,missense_variant,p.Gly125Ser,ENST00000368011,NM_152366.4;PFDN2,downstream_gene_variant,,ENST00000368010,NM_012394.3;KLHDC9,non_coding_transcript_exon_variant,,ENST00000490724,;KLHDC9,non_coding_transcript_exon_variant,,ENST00000469647,;KLHDC9,non_coding_transcript_exon_variant,,ENST00000392191,;KLHDC9,non_coding_transcript_exon_variant,,ENST00000494418,;PFDN2,downstream_gene_variant,,ENST00000468311,;KLHDC9,non_coding_transcript_exon_variant,,ENST00000471613,;KLHDC9,upstream_gene_variant,,ENST00000475934,;	A	ENST00000368011	Transcript	missense_variant	515/1314	373/1050	125/349	G/S	Ggt/Agt		1		1	KLHDC9	HGNC	HGNC:28489	protein_coding	YES	CCDS30919.1	ENSP00000356990	Q8NEP7		UPI0000420905	NM_152366.4	tolerated(0.32)		1/4		Superfamily_domains:0047741,Gene3D:1zgkA00,hmmpanther:PTHR23244,hmmpanther:PTHR23244:SF299																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	161098908	161098908	G	A	1	0	0	0	0	1	0	0	0	8228	1348	47	3		3	KLHDC9	1	161098908	Missense_Mutation	SNP	G	C3N-02423_TP	148243	161098908	87857514	29	30948											
METTL11B	0	.	GRCh38	chr1	170167736	170167736	+	Frame_Shift_Del	DEL	G	G	-																															cccgtgtggatgttcgcactGcacagcgacagacactcctg																								novel		C3N-02423_TP	C3N-02423_NB	G	G																c.831delG	p.His278ThrfsTer?	p.H278Tfs*?	ENST00000439373	4/4	80	70	10	151	151	0	sindel-varindel-pindel	METTL11B,frameshift_variant,p.His278ThrfsTer?,ENST00000439373,NM_001136107.1;METTL11B,downstream_gene_variant,,ENST00000367764,;	-	ENST00000439373	Transcript	frameshift_variant	938/992	831/852	277/283	L/X	ctG/ct		1		1	METTL11B	HGNC	HGNC:31932	protein_coding	YES	CCDS44275.1	ENSP00000408058	Q5VVY1		UPI0000418EF1	NM_001136107.1			4/4		hmmpanther:PTHR12753:SF2,hmmpanther:PTHR12753,Pfam_domain:PF05891,Superfamily_domains:SSF53335																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	99	170167736	170167736	G	-	1	0	1	0	1	0	0	0	0	9437	1306	46	0		0	METTL11B	1	170167736	Frame_Shift_Del	DEL	G	C3N-02423_TP	9068828	170167736	78788686	30	30949											
CEP350	0	.	GRCh38	chr1	180031482	180031482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactttggaggatctttctgGacattctgtgaggtaatgta	9	15	11	6	0	3	1	0	1	3	0	3	4	3	4	0	4	0	2	0	4	2	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.3713G>A	p.Gly1238Glu	p.G1238E	ENST00000367607	15/38	75	62	13	86	86	0	strelka-varscan-mutect	CEP350,missense_variant,p.Gly1238Glu,ENST00000367607,NM_014810.4;	A	ENST00000367607	Transcript	missense_variant	4131/13491	3713/9354	1238/3117	G/E	gGa/gAa		1		1	CEP350	HGNC	HGNC:24238	protein_coding	YES	CCDS1336.1	ENSP00000356579	Q5VT06		UPI000013CFC5	NM_014810.4	deleterious(0.03)		15/38		hmmpanther:PTHR13958:SF4,hmmpanther:PTHR13958																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	180031482	180031482	G	A	1	0	0	0	0	1	0	0	0	2972	1174	41	3		3	CEP350	1	180031482	Missense_Mutation	SNP	G	C3N-02423_TP	9863746	180031482	68924940	31	30950											
HMCN1	0	.	GRCh38	chr1	186016025	186016025	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagttattgctcattctctGacactggagtgcaaagctgc	9	13	10	9	0	2	1	1	1	1	0	3	2	2	2	0	1	4	5	0	1	3	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.4977G>A	p.=	p.L1659L	ENST00000271588	32/107	203	191	12	210	210	0	strelka-varscan-mutect	HMCN1,synonymous_variant,p.=,ENST00000271588,NM_031935.2;	A	ENST00000271588	Transcript	synonymous_variant	5206/18208	4977/16908	1659/5635	L	ctG/ctA		1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2			32/107		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	186016025	186016025	G	A	1	0	0	0	0	0	0	0	1	7111	1277	45	3		3	HMCN1	1	186016025	Silent	SNP	G	C3N-02423_TP	5984543	186016025	62940397	32	30951											
RGS1	0	.	GRCh38	chr1	192578418	192578418	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatcatcatcagtttctcCataaaagaccctatatgcag	13	13	4	11	0	4	1	3	0	1	1	5	1	4	1	2	0	1	2	2	0	5	5	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.477C>A	p.=	p.S159S	ENST00000469578	4/4	163	124	39	183	183	0	strelka-varscan-mutect	RGS1,synonymous_variant,p.=,ENST00000469578,;RGS1,intron_variant,,ENST00000367459,NM_002922.3;RGS1,intron_variant,,ENST00000498352,;RGS1,downstream_gene_variant,,ENST00000474373,;RGS1,downstream_gene_variant,,ENST00000583155,;RGS1,downstream_gene_variant,,ENST00000462589,;	A	ENST00000469578	Transcript	synonymous_variant	497/1034	477/510	159/169	S	tcC/tcA		1		1	RGS1	HGNC	HGNC:9991	protein_coding			ENSP00000464323	Q08116		UPI000020468A				4/4		Low_complexity_(Seg):seg,SMART_domains:SM00315																	LOW		SNV	2			1										PASS		.	.												A	2	1	99	192578418	192578418	C	A	1	0	0	0	0	0	0	0	1	13463	581	21	2		2	RGS1	1	192578418	Silent	SNP	C	C3N-02423_TP	6562393	192578418	56378004	33	30952											
ASPM	0	.	GRCh38	chr1	197102750	197102750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaggactttaacagctttCaaaattgtcaggtacttttc	12	15	7	7	0	2	1	2	1	0	0	3	2	2	2	0	2	3	2	0	2	5	7			C3N-02423_TP	C3N-02423_NB	C	C																c.6501G>A	p.=	p.L2167L	ENST00000367409	18/28	537	496	41	572	572	0	strelka-varscan-mutect	ASPM,synonymous_variant,p.=,ENST00000367409,NM_018136.4;ASPM,intron_variant,,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000612785,;ASPM,intron_variant,,ENST00000367408,;	T	ENST00000367409	Transcript	synonymous_variant	6758/10887	6501/10434	2167/3477	L	ttG/ttA	COSM4555322	1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4			18/28		SMART_domains:SM00015											1						LOW	1	SNV	1		1	1										PASS		.	.												T	2	4	99	197102750	197102750	C	T	1	0	0	0	0	0	0	0	1	1203	825	29	3		3	ASPM	1	197102750	Silent	SNP	C	C3N-02423_TP	4524332	197102750	51853672	34	30953											
PKP1	0	.	GRCh38	chr1	201317620	201317620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtggacctcctccgcagcCccaaccagaacgtccagcag	9	5	10	17	2	0	1	0	0	0	1	3	2	3	2	7	2	4	2	7	2	2	0	rs757337621		C3N-02423_TP	C3N-02423_NB	C	C																c.895C>A	p.Pro299Thr	p.P299T	ENST00000263946	5/15	336	299	37	317	317	0	strelka-varscan-mutect	PKP1,missense_variant,p.Pro299Thr,ENST00000263946,NM_000299.3;PKP1,missense_variant,p.Pro299Thr,ENST00000367324,NM_001005337.2;PKP1,missense_variant,p.Pro299Thr,ENST00000352845,;PKP1,non_coding_transcript_exon_variant,,ENST00000475988,;	A	ENST00000263946	Transcript	missense_variant	1146/5447	895/2244	299/747	P/T	Ccc/Acc	rs757337621	1		1	PKP1	HGNC	HGNC:9023	protein_coding	YES	CCDS30966.1	ENSP00000263946	Q13835		UPI0000131B86	NM_000299.3	tolerated(0.14)		5/15		Gene3D:1.25.10.10,Pfam_domain:PF00514,PROSITE_profiles:PS50176,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF3,SMART_domains:SM00185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		rs757337621	.												A	3	1	99	201317620	201317620	C	A	1	0	0	0	0	1	0	0	0	12080	623	22	2		2	PKP1	1	201317620	Missense_Mutation	SNP	C	C3N-02423_TP	4214870	201317620	47638802	35	30954											
PKP1	0	.	GRCh38	chr1	201325834	201325834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaactgcagggtgtcctcaGacaggtaagagcccaggaca	12	5	14	10	0	1	2	1	0	0	2	2	4	2	4	2	4	3	2	2	4	2	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2165G>A	p.Arg722Lys	p.R722K	ENST00000263946	13/15	486	442	44	418	417	1	strelka-varscan-mutect	PKP1,missense_variant,p.Arg722Lys,ENST00000263946,NM_000299.3;PKP1,missense_variant,p.Arg701Lys,ENST00000367324,NM_001005337.2;PKP1,missense_variant,p.Arg722Lys,ENST00000352845,;PKP1,upstream_gene_variant,,ENST00000477817,;	A	ENST00000263946	Transcript	missense_variant	2416/5447	2165/2244	722/747	R/K	aGa/aAa		1		1	PKP1	HGNC	HGNC:9023	protein_coding	YES	CCDS30966.1	ENSP00000263946	Q13835		UPI0000131B86	NM_000299.3	tolerated(1)		13/15		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	99	201325834	201325834	G	A	1	0	0	0	0	1	0	0	0	12080	956	33	3		3	PKP1	1	201325834	Missense_Mutation	SNP	G	C3N-02423_TP	8214	201325834	47630588	36	30955											
MDM4	0	.	GRCh38	chr1	204549150	204549150	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatgcaagaaatttaactCtccaagcaagaggtactgtt	15	11	8	7	0	1	3	0	1	1	2	2	3	1	3	1	1	4	4	1	1	7	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.941C>G	p.Ser314Cys	p.S314C	ENST00000367182	11/11	134	127	7	140	140	0	strelka-mutect	MDM4,missense_variant,p.Ser314Cys,ENST00000367182,NM_002393.4;MDM4,missense_variant,p.Ser264Cys,ENST00000454264,NM_001204171.1;MDM4,missense_variant,p.Ser216Cys,ENST00000614459,NM_001278517.1;MDM4,missense_variant,p.Ser91Cys,ENST00000612738,NM_001278519.1;MDM4,missense_variant,p.Ser199Cys,ENST00000367179,;MDM4,missense_variant,p.Ser92Cys,ENST00000444261,;MDM4,3_prime_UTR_variant,,ENST00000391947,NM_001278516.1;MDM4,3_prime_UTR_variant,,ENST00000616250,NM_001278518.1;MDM4,3_prime_UTR_variant,,ENST00000621032,;MDM4,intron_variant,,ENST00000367183,NM_001204172.1;MDM4,downstream_gene_variant,,ENST00000507825,;MDM4,non_coding_transcript_exon_variant,,ENST00000463049,;MDM4,downstream_gene_variant,,ENST00000470908,;MDM4,downstream_gene_variant,,ENST00000471783,;	G	ENST00000367182	Transcript	missense_variant	1103/10073	941/1473	314/490	S/C	tCt/tGt		1		1	MDM4	HGNC	HGNC:6974	protein_coding	YES	CCDS1447.1	ENSP00000356150	O15151	A0A024R990	UPI000007467F	NM_002393.4	deleterious(0)		11/11		PROSITE_profiles:PS50199,hmmpanther:PTHR13844,hmmpanther:PTHR13844:SF20,PROSITE_patterns:PS01358,PIRSF_domain:PIRSF006748,Pfam_domain:PF00641,PIRSF_domain:PIRSF500699,Superfamily_domains:SSF90209																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	204549150	204549150	C	G	1	0	0	0	0	1	0	0	0	9352	913	32	4		4	MDM4	1	204549150	Missense_Mutation	SNP	C	C3N-02423_TP	3223316	204549150	44407272	37	30956											
HSD11B1	0	.	GRCh38	chr1	209734371	209734371	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggaggaatgtgccctGgagatcatcaaagggggagc	13	5	15	8	0	2	1	2	0	0	1	2	5	2	4	2	5	2	0	2	5	3	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.729G>T	p.=	p.L243L	ENST00000367028	7/7	254	231	23	255	255	0	strelka-varscan-mutect	HSD11B1,synonymous_variant,p.=,ENST00000367028,NM_181755.2,NM_001206741.1;HSD11B1,synonymous_variant,p.=,ENST00000367027,NM_005525.3;HSD11B1,synonymous_variant,p.=,ENST00000261465,;HSD11B1,downstream_gene_variant,,ENST00000615289,;	T	ENST00000367028	Transcript	synonymous_variant	883/1461	729/879	243/292	L	ctG/ctT		1		1	HSD11B1	HGNC	HGNC:5208	protein_coding	YES	CCDS1489.1	ENSP00000355995	P28845	X5D2L1	UPI000004C796	NM_181755.2,NM_001206741.1			7/7		Gene3D:3.40.50.720,Superfamily_domains:SSF51735																	LOW	1	SNV	5			1										PASS		rs1037600018	.												T	2	4	99	209734371	209734371	G	T	1	0	0	0	0	0	0	0	1	7270	1335	47	2		2	HSD11B1	1	209734371	Silent	SNP	G	C3N-02423_TP	5185221	209734371	39222051	38	30957											
GPATCH2	0	.	GRCh38	chr1	217431272	217431272	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatccccttgccatctcgtCcaaggcctgacccaggcgtc	7	8	9	17	2	1	2	0	1	1	1	5	2	3	2	6	2	1	0	6	2	1	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1460G>T	p.Gly487Val	p.G487V	ENST00000366935	10/10	553	516	37	503	503	0	strelka-varscan-mutect	GPATCH2,missense_variant,p.Gly487Val,ENST00000366935,NM_018040.3;	A	ENST00000366935	Transcript	missense_variant	1571/5851	1460/1587	487/528	G/V	gGa/gTa		1		-1	GPATCH2	HGNC	HGNC:25499	protein_coding	YES	CCDS1518.1	ENSP00000355902	Q9NW75		UPI000004A012	NM_018040.3	deleterious(0)		10/10		Pfam_domain:PF01585,PROSITE_profiles:PS50174,hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF4,SMART_domains:SM00443																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	99	217431272	217431272	C	A	1	0	0	0	0	1	0	0	0	6491	855	30	2		2	GPATCH2	1	217431272	Missense_Mutation	SNP	C	C3N-02423_TP	7696901	217431272	31525150	39	30958											
TARBP1	0	.	GRCh38	chr1	234398394	234398394	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttttacctatgtcttgctGagaccagtcacctggtttta	7	18	7	9	0	2	1	1	1	1	1	2	2	2	1	3	1	2	2	3	1	3	7	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.4231C>G	p.Gln1411Glu	p.Q1411E	ENST00000040877	26/30	117	110	7	95	95	0	strelka-varscan-mutect	TARBP1,missense_variant,p.Gln1411Glu,ENST00000040877,NM_005646.3;TARBP1,non_coding_transcript_exon_variant,,ENST00000462259,;TARBP1,non_coding_transcript_exon_variant,,ENST00000496673,;TARBP1,non_coding_transcript_exon_variant,,ENST00000468077,;TARBP1,non_coding_transcript_exon_variant,,ENST00000484454,;TARBP1,intron_variant,,ENST00000483404,;TARBP1,downstream_gene_variant,,ENST00000481183,;	C	ENST00000040877	Transcript	missense_variant	4231/5130	4231/4866	1411/1621	Q/E	Cag/Gag		1		-1	TARBP1	HGNC	HGNC:11568	protein_coding	YES	CCDS1601.1	ENSP00000040877	Q13395		UPI000006DB0F	NM_005646.3	deleterious(0)		26/30		PROSITE_profiles:PS51624																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	234398394	234398394	G	C	1	0	0	0	0	1	0	0	0	15954	1299	45	4		4	TARBP1	1	234398394	Missense_Mutation	SNP	G	C3N-02423_TP	16967122	234398394	14558028	40	30959											
RYR2	0	.	GRCh38	chr1	237456711	237456711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagagtcttggaaatccattCtgaattctctgtatgagttg	10	15	10	6	0	3	3	0	2	3	1	5	5	4	4	1	1	0	2	1	1	3	5	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1588C>G	p.Leu530Val	p.L530V	ENST00000366574	16/105	110	103	7	115	115	0	strelka-varscan-mutect	RYR2,missense_variant,p.Leu530Val,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Leu514Val,ENST00000360064,;	G	ENST00000366574	Transcript	missense_variant	1905/16562	1588/14904	530/4967	L/V	Ctg/Gtg		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.71)		16/105		Superfamily_domains:0048280,Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	237456711	237456711	C	G	1	0	0	0	0	1	0	0	0	14029	912	32	4		4	RYR2	1	237456711	Missense_Mutation	SNP	C	C3N-02423_TP	3058317	237456711	11499711	41	30960											
RYR2	0	.	GRCh38	chr1	237496731	237496731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctcttctcctatggatttGatggccttcatctctggtca	6	17	7	11	0	5	1	2	1	3	0	8	2	5	2	2	3	0	0	2	3	1	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2182G>C	p.Asp728His	p.D728H	ENST00000366574	20/105	94	89	5	113	112	1	strelka-varscan-mutect	RYR2,missense_variant,p.Asp728His,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Asp712His,ENST00000360064,;	C	ENST00000366574	Transcript	missense_variant	2499/16562	2182/14904	728/4967	D/H	Gat/Cat		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0)		20/105		Pfam_domain:PF00622,Prints_domain:PR00795,PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	237496731	237496731	G	C	1	0	0	0	0	1	0	0	0	14029	1290	45	4		4	RYR2	1	237496731	Missense_Mutation	SNP	G	C3N-02423_TP	40020	237496731	11459691	42	30961											
RYR2	0	.	GRCh38	chr1	237625767	237625767	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatatctgaagaagaagcaAgcagaaaaaccagttgagag	20	5	10	6	0	1	5	0	2	1	4	1	6	1	5	1	0	3	3	1	0	7	2	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.6129A>T	p.Gln2043His	p.Q2043H	ENST00000366574	40/105	235	197	38	220	220	0	strelka-varscan-mutect	RYR2,missense_variant,p.Gln2043His,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Gln2027His,ENST00000360064,;	T	ENST00000366574	Transcript	missense_variant	6446/16562	6129/14904	2043/4967	Q/H	caA/caT		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	deleterious(0.04)		40/105		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	237625767	237625767	A	T	1	0	0	0	0	1	0	0	0	14029	69	3	4		4	RYR2	1	237625767	Missense_Mutation	SNP	A	C3N-02423_TP	129036	237625767	11330655	43	30962											
OR6F1	0	.	GRCh38	chr1	247711915	247711915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggtttaaaactggagtcaCcacagtgttcaggacgtgga	11	9	14	7	1	2	0	2	0	0	0	2	3	2	3	1	5	1	2	1	5	2	3	rs374342386		C3N-02423_TP	C3N-02423_NB	C	C																c.841G>A	p.Val281Met	p.V281M	ENST00000302084	1/1	279	250	29	303	303	0	strelka-varscan-mutect	OR6F1,missense_variant,p.Val281Met,ENST00000302084,NM_001005286.1;RP11-634B7.5,non_coding_transcript_exon_variant,,ENST00000419891,;RP11-634B7.4,intron_variant,,ENST00000449298,;	T	ENST00000302084	Transcript	missense_variant	841/927	841/927	281/308	V/M	Gtg/Atg	rs374342386	1		-1	OR6F1	HGNC	HGNC:15027	protein_coding	YES	CCDS31095.1	ENSP00000305640	Q8NGZ6	A0A126GV68	UPI0000041CD7	NM_001005286.1	deleterious(0.01)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF12,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE		SNV				1										PASS		rs374342386	.												T	3	4	99	247711915	247711915	C	T	1	0	0	0	0	1	0	0	0	11269	507	18	3		3	OR6F1	1	247711915	Missense_Mutation	SNP	C	C3N-02423_TP	10086148	247711915	1244507	44	30963											
OR1C1	0	.	GRCh38	chr1	247757780	247757780	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaggatacagacaaggggCgtgagagccaatagacctcc	14	4	13	10	2	0	3	0	1	0	3	1	6	1	4	3	3	2	0	3	3	4	2	rs113617040		C3N-02423_TP	C3N-02423_NB	C	C																c.627G>T	p.=	p.T209T	ENST00000408896	1/1	270	255	15	299	299	0	strelka-varscan-mutect	OR1C1,synonymous_variant,p.=,ENST00000408896,NM_012353.2;	A	ENST00000408896	Transcript	synonymous_variant	627/945	627/945	209/314	T	acG/acT	rs113617040	1		-1	OR1C1	HGNC	HGNC:8182	protein_coding	YES	CCDS41481.1	ENSP00000386138	Q15619	A0A126GV94	UPI000004B1DC	NM_012353.2			1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF388,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		rs113617040	.												A	2	1	99	247757780	247757780	C	A	1	0	0	0	0	0	0	0	1	11029	755	27	1		1	OR1C1	1	247757780	Silent	SNP	C	C3N-02423_TP	45865	247757780	1198642	45	30964											
PXDN	0	.	GRCh38	chr2	1744377	1744377	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggcttctgggccaccaCggccagcgtcccccaggcgc	4	4	13	20	4	1	0	0	0	1	0	2	0	2	0	6	4	1	1	6	4	0	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.79G>T	p.Val27Leu	p.V27L	ENST00000252804	1/23	352	329	23	370	370	0	strelka-varscan-mutect	PXDN,missense_variant,p.Val27Leu,ENST00000252804,NM_012293.2;PXDN,missense_variant,p.Val23Leu,ENST00000433670,;PXDN,missense_variant,p.Val27Leu,ENST00000425171,;PXDN,intron_variant,,ENST00000485177,;	A	ENST00000252804	Transcript	missense_variant	130/6808	79/4440	27/1479	V/L	Gtg/Ttg		1		-1	PXDN	HGNC	HGNC:14966	protein_coding	YES	CCDS46221.1	ENSP00000252804	Q92626		UPI00001C1DC2	NM_012293.2	tolerated(0.99)		1/23		Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	1744377	1744377	C	A	1	0	0	0	0	1	0	0	0	13001	536	19	1		1	PXDN	2	1744377	Missense_Mutation	SNP	C	C3N-02423_TP		1744377	240449152	46	30965											
RNASEH1	0	.	GRCh38	chr2	3550377	3550377	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcttcgtttaacttacaaagGatggcctggcccccagtaaa	11	10	9	11	1	0	0	0	0	0	0	1	1	0	1	3	3	2	3	3	3	5	5			C3N-02423_TP	C3N-02423_NB	G	G																c.505C>G	p.Pro169Ala	p.P169A	ENST00000315212	4/8	263	242	21	232	232	0	strelka-varscan-mutect	RNASEH1,missense_variant,p.Pro169Ala,ENST00000315212,NM_002936.4,NM_001286834.1,NM_001286837.1;RP13-512J5.1,upstream_gene_variant,,ENST00000438485,;RNASEH1,3_prime_UTR_variant,,ENST00000436842,;RNASEH1,3_prime_UTR_variant,,ENST00000454734,;RNASEH1,non_coding_transcript_exon_variant,,ENST00000464986,;	C	ENST00000315212	Transcript	missense_variant	861/1887	505/861	169/286	P/A	Cct/Gct	COSM3581345	1		-1	RNASEH1	HGNC	HGNC:18466	protein_coding	YES	CCDS1647.1	ENSP00000313350	O60930	E5KN15	UPI00001343BC	NM_002936.4,NM_001286834.1,NM_001286837.1	tolerated(0.05)		4/8		Gene3D:3.30.420.10,Pfam_domain:PF00075,PIRSF_domain:PIRSF036852,PROSITE_profiles:PS50879,hmmpanther:PTHR10642,hmmpanther:PTHR10642:SF0,Superfamily_domains:SSF53098											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	99	3550377	3550377	G	C	1	0	0	0	0	1	0	0	0	13590	1188	41	4		4	RNASEH1	2	3550377	Missense_Mutation	SNP	G	C3N-02423_TP	1806000	3550377	238643152	47	30966											
COLEC11	0	.	GRCh38	chr2	3604355	3604355	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggatgagggggaatctGgccctggtgggcgttctaat	7	10	16	8	1	3	1	1	1	2	0	3	3	3	3	1	6	0	1	1	6	2	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.57G>T	p.=	p.L19L	ENST00000418971	3/8	306	275	31	263	263	0	strelka-varscan-mutect	COLEC11,synonymous_variant,p.=,ENST00000382062,NM_001255984.1,NM_001255983.1;COLEC11,synonymous_variant,p.=,ENST00000418971,NM_001255985.1;COLEC11,synonymous_variant,p.=,ENST00000349077,NM_024027.4,NM_001255982.1;COLEC11,synonymous_variant,p.=,ENST00000438814,;COLEC11,5_prime_UTR_variant,,ENST00000236693,NM_199235.2;COLEC11,upstream_gene_variant,,ENST00000403096,NM_001255986.1;COLEC11,upstream_gene_variant,,ENST00000402794,NM_001255987.1;COLEC11,upstream_gene_variant,,ENST00000402922,NM_001255988.1;COLEC11,upstream_gene_variant,,ENST00000404205,NM_001255989.1;AC010907.2,upstream_gene_variant,,ENST00000456450,;COLEC11,non_coding_transcript_exon_variant,,ENST00000487365,;COLEC11,non_coding_transcript_exon_variant,,ENST00000460971,;COLEC11,non_coding_transcript_exon_variant,,ENST00000419002,;COLEC11,synonymous_variant,p.=,ENST00000416132,;	T	ENST00000418971	Transcript	synonymous_variant	268/1595	57/858	19/285	L	ctG/ctT		1		1	COLEC11	HGNC	HGNC:17213	protein_coding	YES	CCDS58689.1	ENSP00000411770	Q9BWP8		UPI0001AE7699	NM_001255985.1			3/8		hmmpanther:PTHR24024,hmmpanther:PTHR24024:SF14,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	99	3604355	3604355	G	T	1	0	0	0	0	0	0	0	1	3501	1335	47	2		2	COLEC11	2	3604355	Silent	SNP	G	C3N-02423_TP	53978	3604355	238589174	48	30967											
ALLC	0	.	GRCh38	chr2	3671169	3671169	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagctgatggacatggcAtctgaatccgtaggaggaaa	13	7	12	9	1	1	2	0	2	1	0	2	5	2	5	2	4	1	3	2	4	3	1	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.12A>C	p.=	p.A4A	ENST00000252505	2/12	253	220	33	262	262	0	strelka-varscan-mutect	ALLC,synonymous_variant,p.=,ENST00000252505,NM_018436.3;	C	ENST00000252505	Transcript	synonymous_variant	174/1446	12/1176	4/391	A	gcA/gcC		1		1	ALLC	HGNC	HGNC:17377	protein_coding	YES	CCDS46223.1	ENSP00000252505		B4DY77	UPI000050BBEF	NM_018436.3			2/12		hmmpanther:PTHR12045,TIGRFAM_domain:TIGR02961,PIRSF_domain:PIRSF016516,Gene3D:2.60.120.260,Superfamily_domains:SSF49785																	LOW	1	SNV	1			1										PASS		rs975746309	.												C	2	2	99	3671169	3671169	A	C	1	0	0	0	0	0	0	0	1	634	204	8	5		5	ALLC	2	3671169	Silent	SNP	A	C3N-02423_TP	66814	3671169	238522360	49	30968											
KCNF1	0	.	GRCh38	chr2	10912898	10912898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgggcgtggacgcagccGagggccgctggcgccgctgc	4	4	18	15	6	0	0	0	0	0	0	0	2	0	1	4	4	2	3	4	4	0	0	rs773536391		C3N-02423_TP	C3N-02423_NB	G	G																c.472G>A	p.Glu158Lys	p.E158K	ENST00000295082	1/1	237	225	12	206	206	0	strelka-varscan-mutect	KCNF1,missense_variant,p.Glu158Lys,ENST00000295082,NM_002236.4;	A	ENST00000295082	Transcript	missense_variant	962/2289	472/1485	158/494	E/K	Gag/Aag	rs773536391,COSM1751977,COSM381466	1		1	KCNF1	HGNC	HGNC:6246	protein_coding	YES	CCDS1676.1	ENSP00000295082	Q9H3M0		UPI000012DC98	NM_002236.4	tolerated(0.6)		1/1		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF132											0,1,1						MODERATE	1	SNV			0,1,1	1										PASS		rs773536391	.												A	3	1	99	10912898	10912898	G	A	1	0	0	0	0	1	0	0	0	7943	1059	37	1		1	KCNF1	2	10912898	Missense_Mutation	SNP	G	C3N-02423_TP	7241729	10912898	231280631	50	30969											
APOB	0	.	GRCh38	chr2	21011677	21011677	+	Frame_Shift_Del	DEL	C	C	-																															cttaagtccttcttgactgaCcttgaagttgaaaatgtttt																								rs754640467		C3N-02423_TP	C3N-02423_NB	C	C																c.5191delG	p.Val1731SerfsTer12	p.V1731Sfs*12	ENST00000233242	26/29	234	201	33	283	283	0	sindel-varindel-pindel	APOB,frameshift_variant,p.Val1731SerfsTer12,ENST00000233242,NM_000384.2;	-	ENST00000233242	Transcript	frameshift_variant	5319/14121	5191/13692	1731/4563	V/X	Gtc/tc	rs754640467	1		-1	APOB	HGNC	HGNC:603	protein_coding	YES	CCDS1703.1	ENSP00000233242	P04114		UPI0004620B75	NM_000384.2			26/29		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	99	21011677	21011677	C	-	1	0	1	0	1	0	0	0	0	907	507	18	0		0	APOB	2	21011677	Frame_Shift_Del	DEL	C	C3N-02423_TP	10098779	21011677	221181852	51	30970											
ABHD1	0	.	GRCh38	chr2	27129553	27129553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagcaatactgaagatctaGagacagtcgtgaaccacata	16	7	8	10	1	1	4	0	2	1	2	2	5	1	4	2	0	3	1	2	0	6	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.544G>A	p.Glu182Lys	p.E182K	ENST00000316470	5/9	333	315	18	330	330	0	strelka-varscan	ABHD1,missense_variant,p.Glu182Lys,ENST00000316470,NM_032604.3;ABHD1,missense_variant,p.Glu182Lys,ENST00000621324,;ABHD1,missense_variant,p.Glu119Lys,ENST00000416071,;PREB,downstream_gene_variant,,ENST00000260643,NM_013388.4;PREB,downstream_gene_variant,,ENST00000406567,;PREB,downstream_gene_variant,,ENST00000456259,;PREB,downstream_gene_variant,,ENST00000430533,;PREB,downstream_gene_variant,,ENST00000416802,;ABHD1,missense_variant,p.Glu182Lys,ENST00000448950,;ABHD1,stop_retained_variant,p.=,ENST00000420647,;ABHD1,non_coding_transcript_exon_variant,,ENST00000489120,;ABHD1,downstream_gene_variant,,ENST00000622011,;PREB,downstream_gene_variant,,ENST00000468045,;PREB,downstream_gene_variant,,ENST00000444452,;PREB,downstream_gene_variant,,ENST00000474802,;ABHD1,upstream_gene_variant,,ENST00000496739,;PREB,downstream_gene_variant,,ENST00000441451,;	A	ENST00000316470	Transcript	missense_variant	658/1400	544/1218	182/405	E/K	Gag/Aag		1		1	ABHD1	HGNC	HGNC:17553	protein_coding	YES	CCDS1736.1	ENSP00000326491	Q96SE0	A0A140VJD1	UPI000006D45E	NM_032604.3	deleterious(0.01)		5/9		hmmpanther:PTHR10794,hmmpanther:PTHR10794:SF60,PIRSF_domain:PIRSF005211,Gene3D:3.40.50.1820,Pfam_domain:PF00561,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	27129553	27129553	G	A	1	0	0	0	0	1	0	0	0	77	943	33	3		3	ABHD1	2	27129553	Missense_Mutation	SNP	G	C3N-02423_TP	6117876	27129553	215063976	52	30971											
CAD	0	.	GRCh38	chr2	27236755	27236755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttccacttgcaggccctaGgccagatcgggccagcccct	6	8	10	17	1	0	1	0	0	0	1	2	1	1	1	6	3	2	1	6	3	1	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.4321G>A	p.Gly1441Ser	p.G1441S	ENST00000264705	27/44	290	243	47	278	277	1	strelka-varscan	CAD,missense_variant,p.Gly1441Ser,ENST00000264705,NM_004341.3;CAD,missense_variant,p.Gly1378Ser,ENST00000403525,NM_001306079.1;CAD,missense_variant,p.Gly93Ser,ENST00000458503,;CAD,upstream_gene_variant,,ENST00000456311,;CAD,downstream_gene_variant,,ENST00000464159,;CAD,upstream_gene_variant,,ENST00000491461,;CAD,upstream_gene_variant,,ENST00000487239,;CAD,downstream_gene_variant,,ENST00000475695,;CAD,downstream_gene_variant,,ENST00000479002,;	A	ENST00000264705	Transcript	missense_variant	4483/7265	4321/6678	1441/2225	G/S	Ggc/Agc		1		1	CAD	HGNC	HGNC:1424	protein_coding	YES	CCDS1742.1	ENSP00000264705	P27708		UPI000013D558	NM_004341.3	tolerated(0.6)		27/44		Gene3D:3.40.50.1380,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF5,Superfamily_domains:SSF52335																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	27236755	27236755	G	A	1	0	0	0	0	1	0	0	0	2255	1000	35	3		3	CAD	2	27236755	Missense_Mutation	SNP	G	C3N-02423_TP	107202	27236755	214956774	53	30972											
C2orf16	0	.	GRCh38	chr2	27577563	27577563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaagactgcaaggggaaGaatctgtggtattgattcca	15	9	12	5	0	1	4	0	1	1	3	2	5	2	5	1	3	1	2	1	3	6	3	rs748621531		C3N-02423_TP	C3N-02423_NB	G	G																c.991G>A	p.Glu331Lys	p.E331K	ENST00000408964	1/1	229	215	14	271	271	0	strelka-varscan	C2orf16,missense_variant,p.Glu331Lys,ENST00000408964,NM_032266.3;	A	ENST00000408964	Transcript	missense_variant	1042/6199	991/5955	331/1984	E/K	Gaa/Aaa	rs748621531,COSM1019754,COSM1019755,COSM279369	1		1	C2orf16	HGNC	HGNC:25275	protein_coding	YES	CCDS42666.1	ENSP00000386190	Q68DN1		UPI0000D61179	NM_032266.3	tolerated(0.21)		1/1		hmmpanther:PTHR33888											0,1,1,1						MODERATE	1	SNV			0,1,1,1	1										PASS		.	.												A	3	1	99	27577563	27577563	G	A	1	0	0	0	0	1	0	0	0	2032	943	33	3		3	C2orf16	2	27577563	Missense_Mutation	SNP	G	C3N-02423_TP	340808	27577563	214615966	54	30973											
BIRC6	0	.	GRCh38	chr2	32401294	32401294	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggaactgacagaatatCttgctttgggtcggggagct	9	11	15	6	1	1	2	0	1	1	1	2	5	1	5	0	5	3	2	0	5	3	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1166C>A	p.Ser389Tyr	p.S389Y	ENST00000421745	7/74	371	339	32	370	370	0	strelka-varscan	BIRC6,missense_variant,p.Ser389Tyr,ENST00000421745,NM_016252.3;BIRC6,non_coding_transcript_exon_variant,,ENST00000466527,;	A	ENST00000421745	Transcript	missense_variant	1300/15703	1166/14574	389/4857	S/Y	tCt/tAt		1		1	BIRC6	HGNC	HGNC:13516	protein_coding	YES	CCDS33175.2	ENSP00000393596	Q9NR09		UPI000159689D	NM_016252.3	deleterious(0.01)		7/74		Gene3D:2.130.10.10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	32401294	32401294	C	A	1	0	0	0	0	1	0	0	0	1589	913	32	2		2	BIRC6	2	32401294	Missense_Mutation	SNP	C	C3N-02423_TP	4823731	32401294	209792235	55	30974											
BIRC6	0	.	GRCh38	chr2	32401524	32401524	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtacaacagcttattctatCaggagacccaagctcaggag	13	9	9	10	0	3	1	2	0	1	1	3	3	3	2	1	2	4	3	1	2	5	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1319C>G	p.Ser440Ter	p.S440*	ENST00000421745	8/74	206	192	14	191	191	0	strelka-varscan	BIRC6,stop_gained,p.Ser440Ter,ENST00000421745,NM_016252.3;BIRC6,downstream_gene_variant,,ENST00000466527,;	G	ENST00000421745	Transcript	stop_gained	1453/15703	1319/14574	440/4857	S/*	tCa/tGa		1		1	BIRC6	HGNC	HGNC:13516	protein_coding	YES	CCDS33175.2	ENSP00000393596	Q9NR09		UPI000159689D	NM_016252.3			8/74		hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF123																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	99	32401524	32401524	C	G	1	0	0	0	0	0	1	0	0	1589	838	29	4		4	BIRC6	2	32401524	Nonsense_Mutation	SNP	C	C3N-02423_TP	230	32401524	209792005	56	30975											
LTBP1	0	.	GRCh38	chr2	33365416	33365416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgtagccggcctcttgtgGgcaagcagacaacgtacact	9	9	12	11	2	1	1	0	0	1	1	1	1	1	1	2	2	4	4	2	2	4	3			C3N-02423_TP	C3N-02423_NB	G	G																c.4624G>T	p.Gly1542Cys	p.G1542C	ENST00000404816	31/34	329	289	40	306	306	0	strelka-varscan	LTBP1,missense_variant,p.Gly1542Cys,ENST00000404816,NM_206943.2;LTBP1,missense_variant,p.Gly1174Cys,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,missense_variant,p.Gly1163Cys,ENST00000404525,NM_001166265.1;LTBP1,missense_variant,p.Gly1216Cys,ENST00000407925,NM_000627.3;LTBP1,missense_variant,p.Gly1161Cys,ENST00000402934,;LTBP1,downstream_gene_variant,,ENST00000422669,;	T	ENST00000404816	Transcript	missense_variant	4977/6333	4624/5166	1542/1721	G/C	Ggc/Tgc	COSM1649782,COSM40832,COSM4699459,COSM4699460,COSM574827	1		1	LTBP1	HGNC	HGNC:6714	protein_coding	YES	CCDS33177.2	ENSP00000386043	Q14766		UPI000173A4A4	NM_206943.2	deleterious(0)		31/34		Gene3D:3.90.290.10,Pfam_domain:PF00683,PROSITE_profiles:PS51364,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF39,Superfamily_domains:SSF57581											1,1,1,1,1						MODERATE	1	SNV	5		1,1,1,1,1	1										PASS		.	.												T	3	4	99	33365416	33365416	G	T	1	0	0	0	0	1	0	0	0	8979	1232	43	2		2	LTBP1	2	33365416	Missense_Mutation	SNP	G	C3N-02423_TP	963892	33365416	208828113	57	30976											
SOS1	0	.	GRCh38	chr2	39022678	39022678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttcaaatataatattctCttcagagtcaggctctgcaa	12	14	5	10	0	6	1	3	0	3	1	7	1	6	1	0	1	1	2	0	1	5	6	rs771878514		C3N-02423_TP	C3N-02423_NB	C	C																c.1750G>A	p.Glu584Lys	p.E584K	ENST00000426016	11/24	321	300	21	328	328	0	strelka-varscan	SOS1,missense_variant,p.Glu584Lys,ENST00000426016,;SOS1,missense_variant,p.Glu584Lys,ENST00000402219,NM_005633.3;SOS1,missense_variant,p.Glu584Lys,ENST00000395038,;SOS1,downstream_gene_variant,,ENST00000472480,;SOS1,downstream_gene_variant,,ENST00000461545,;	T	ENST00000426016	Transcript	missense_variant	1837/8517	1750/4002	584/1333	E/K	Gag/Aag	rs771878514,COSM1020874	1		-1	SOS1	HGNC	HGNC:11187	protein_coding	YES	CCDS1802.1	ENSP00000387784	Q07889		UPI0000135CF0		deleterious(0.02)		11/24		hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF168,Superfamily_domains:0041591											0,1						MODERATE	1	SNV	2		0,1	1										PASS		.	.												T	3	4	99	39022678	39022678	C	T	1	0	0	0	0	1	0	0	0	15258	922	32	3		3	SOS1	2	39022678	Missense_Mutation	SNP	C	C3N-02423_TP	5657262	39022678	203170851	58	30977											
NRXN1	0	.	GRCh38	chr2	51027787	51027787	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcttgagcgccgcggcgcGcagttccgggggcagccccc	4	4	17	16	6	0	1	0	1	0	0	1	2	1	1	4	3	3	4	4	3	0	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.487C>G	p.Arg163Gly	p.R163G	ENST00000404971	2/24	178	154	24	214	213	1	strelka-varscan	NRXN1,missense_variant,p.Arg163Gly,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Arg163Gly,ENST00000625672,;NRXN1,missense_variant,p.Arg163Gly,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Arg163Gly,ENST00000401669,;NRXN1,missense_variant,p.Arg163Gly,ENST00000405472,;NRXN1,missense_variant,p.Arg163Gly,ENST00000405581,;NRXN1,missense_variant,p.Arg163Gly,ENST00000630543,;NRXN1,missense_variant,p.Arg163Gly,ENST00000637511,;NRXN1,missense_variant,p.Arg163Gly,ENST00000628515,;NRXN1,missense_variant,p.Arg16Gly,ENST00000636066,;NRXN1,missense_variant,p.Arg163Gly,ENST00000626899,;NRXN1,missense_variant,p.Arg5Gly,ENST00000496792,;NRXN1,upstream_gene_variant,,ENST00000627198,;AC007682.1,upstream_gene_variant,,ENST00000440698,;NRXN1,downstream_gene_variant,,ENST00000635310,;NRXN1,downstream_gene_variant,,ENST00000635126,;NRXN1,downstream_gene_variant,,ENST00000636599,;NRXN1,upstream_gene_variant,,ENST00000637679,;NRXN1,downstream_gene_variant,,ENST00000638060,;NRXN1,downstream_gene_variant,,ENST00000637006,;	C	ENST00000404971	Transcript	missense_variant	1827/7578	487/4644	163/1547	R/G	Cgc/Ggc		1		-1	NRXN1	HGNC	HGNC:8008	protein_coding	YES	CCDS46282.1	ENSP00000385142	Q9ULB1		UPI00015A218A	NM_001135659.1	tolerated(0.07)		2/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,SMART_domains:SM00282,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	51027787	51027787	G	C	1	0	0	0	0	1	0	0	0	10724	1087	38	4		4	NRXN1	2	51027787	Missense_Mutation	SNP	G	C3N-02423_TP	12005109	51027787	191165742	59	30978											
AFTPH	0	.	GRCh38	chr2	64551659	64551659	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaggaagagtttgtaccttCaaaccattttatgccaattc	13	13	6	9	0	1	1	1	0	0	1	2	2	1	2	3	1	3	2	3	1	6	6	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.185C>G	p.Ser62Ter	p.S62*	ENST00000238855	2/10	178	166	12	164	164	0	strelka-varscan	AFTPH,stop_gained,p.Ser62Ter,ENST00000238855,NM_203437.3;AFTPH,stop_gained,p.Ser62Ter,ENST00000238856,NM_001002243.2,NM_017657.4;AFTPH,stop_gained,p.Ser62Ter,ENST00000409933,;AFTPH,upstream_gene_variant,,ENST00000409183,;AC008074.1,downstream_gene_variant,,ENST00000623932,;AFTPH,non_coding_transcript_exon_variant,,ENST00000498706,;AFTPH,upstream_gene_variant,,ENST00000487769,;	G	ENST00000238855	Transcript	stop_gained	525/4113	185/2811	62/936	S/*	tCa/tGa		1		1	AFTPH	HGNC	HGNC:25951	protein_coding	YES	CCDS46303.1	ENSP00000238855	Q6ULP2		UPI00003E1F8E	NM_203437.3			2/10		hmmpanther:PTHR16156:SF9,hmmpanther:PTHR16156																	HIGH	1	SNV	5			1										PASS		.	.												G	4	3	99	64551659	64551659	C	G	1	0	0	0	0	0	1	0	0	441	838	29	4		4	AFTPH	2	64551659	Nonsense_Mutation	SNP	C	C3N-02423_TP	13523872	64551659	177641870	60	30979											
CLEC4F	0	.	GRCh38	chr2	70816773	70816773	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtgttttctaaactgCtttttaagaaattcagcgtc	9	17	8	7	1	2	1	1	0	1	1	3	1	2	1	0	1	4	3	0	1	4	7	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.608G>T	p.Ser203Ile	p.S203I	ENST00000272367	4/7	292	245	47	277	277	0	strelka-varscan	CLEC4F,missense_variant,p.Ser203Ile,ENST00000272367,NM_001258027.1,NM_173535.2;CLEC4F,missense_variant,p.Ser203Ile,ENST00000426626,;	A	ENST00000272367	Transcript	missense_variant	685/2475	608/1770	203/589	S/I	aGc/aTc		1		-1	CLEC4F	HGNC	HGNC:25357	protein_coding	YES	CCDS1910.1	ENSP00000272367	Q8N1N0		UPI0000376BCC	NM_001258027.1,NM_173535.2	deleterious(0.04)		4/7																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	99	70816773	70816773	C	A	1	0	0	0	0	1	0	0	0	3284	797	28	2		2	CLEC4F	2	70816773	Missense_Mutation	SNP	C	C3N-02423_TP	6265114	70816773	171376756	61	30980											
CD207	0	.	GRCh38	chr2	70835755	70835755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacagtgaagtgcgcatcagGggcctccttctccacagtca	9	8	10	14	1	3	1	2	1	1	0	5	1	4	1	3	2	1	1	3	2	1	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.22C>A	p.Pro8Thr	p.P8T	ENST00000410009	1/6	393	326	67	403	402	1	strelka-varscan	CD207,missense_variant,p.Pro8Thr,ENST00000410009,NM_015717.4;	T	ENST00000410009	Transcript	missense_variant	68/1869	22/987	8/328	P/T	Cct/Act		1		-1	CD207	HGNC	HGNC:17935	protein_coding	YES	CCDS74520.1	ENSP00000386378	Q9UJ71		UPI0000410F0C	NM_015717.4	deleterious(0.05)		1/6																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	70835755	70835755	G	T	1	0	0	0	0	1	0	0	0	2686	1232	43	2		2	CD207	2	70835755	Missense_Mutation	SNP	G	C3N-02423_TP	18982	70835755	171357774	62	30981											
DUSP11	0	.	GRCh38	chr2	73779919	73779919	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttcttggctgaggagcgtCctgaaaagtcgcgtctccgg	6	11	13	11	4	3	2	0	2	3	0	6	3	4	3	2	3	1	1	2	3	2	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.197G>T	p.Gly66Val	p.G66V	ENST00000272444	1/9	363	300	63	318	318	0	strelka-varscan	DUSP11,missense_variant,p.Gly66Val,ENST00000443070,;DUSP11,missense_variant,p.Gly66Val,ENST00000272444,NM_003584.2;DUSP11,missense_variant,p.Gly17Val,ENST00000452812,;C2orf78,upstream_gene_variant,,ENST00000409561,NM_001080474.1;DUSP11,upstream_gene_variant,,ENST00000480948,;DUSP11,upstream_gene_variant,,ENST00000477458,;	A	ENST00000272444	Transcript	missense_variant	239/1653	197/1134	66/377	G/V	gGa/gTa		1		-1	DUSP11	HGNC	HGNC:3066	protein_coding	YES	CCDS1928.2	ENSP00000272444	O75319		UPI0000EE25F4	NM_003584.2	deleterious_low_confidence(0.02)		1/9																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	73779919	73779919	C	A	1	0	0	0	0	1	0	0	0	4633	855	30	2		2	DUSP11	2	73779919	Missense_Mutation	SNP	C	C3N-02423_TP	2944164	73779919	168413610	63	30982											
LRRTM4	0	.	GRCh38	chr2	76748874	76748874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtacccgatcacaggctGgtcatagctgtaatatggca	11	9	11	10	1	2	0	2	0	0	0	2	1	2	0	1	3	2	6	1	3	4	4			C3N-02423_TP	C3N-02423_NB	G	G																c.1594C>A	p.Gln532Lys	p.Q532K	ENST00000409093	4/4	269	247	22	288	288	0	strelka-varscan	LRRTM4,missense_variant,p.Gln533Lys,ENST00000409911,;LRRTM4,missense_variant,p.Gln532Lys,ENST00000409093,NM_001282924.1;LRRTM4,missense_variant,p.Gln532Lys,ENST00000409884,NM_001134745.1;	T	ENST00000409093	Transcript	missense_variant	1931/2247	1594/1773	532/590	Q/K	Cag/Aag	COSM4699334,COSM4699335	1		-1	LRRTM4	HGNC	HGNC:19411	protein_coding	YES	CCDS46346.1	ENSP00000386357	Q86VH4		UPI0000047808	NM_001282924.1	tolerated_low_confidence(0.17)		4/4		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF1											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												T	3	4	99	76748874	76748874	G	T	1	0	0	0	0	1	0	0	0	8948	1357	47	2		2	LRRTM4	2	76748874	Missense_Mutation	SNP	G	C3N-02423_TP	2968955	76748874	165444655	64	30983											
LRRTM1	0	.	GRCh38	chr2	80303675	80303675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcctcgcagtacagcaGccgcccctcgcaccggcaca	8	3	11	19	5	0	0	0	0	0	0	2	1	0	0	5	1	4	5	5	1	1	1	rs754652013		C3N-02423_TP	C3N-02423_NB	G	G																c.145C>A	p.Leu49Met	p.L49M	ENST00000295057	2/2	101	93	8	82	82	0	strelka-varscan	LRRTM1,missense_variant,p.Leu49Met,ENST00000295057,;LRRTM1,missense_variant,p.Leu49Met,ENST00000409148,NM_178839.4;LRRTM1,missense_variant,p.Leu49Met,ENST00000416268,;LRRTM1,missense_variant,p.Leu49Met,ENST00000452811,;LRRTM1,missense_variant,p.Leu49Met,ENST00000415098,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.2;CTNNA2,intron_variant,,ENST00000629316,NM_001164883.1;CTNNA2,upstream_gene_variant,,ENST00000541047,NM_001282600.1;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.Leu49Met,ENST00000433224,;LRRTM1,missense_variant,p.Leu49Met,ENST00000417012,;	T	ENST00000295057	Transcript	missense_variant	802/2599	145/1569	49/522	L/M	Ctg/Atg	rs754652013	1		-1	LRRTM1	HGNC	HGNC:19408	protein_coding	YES	CCDS1966.1	ENSP00000295057	Q86UE6		UPI000013E1FE		tolerated(0.21)		2/2		Gene3D:3.80.10.10,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	80303675	80303675	G	T	1	0	0	0	0	1	0	0	0	8945	962	34	2		2	LRRTM1	2	80303675	Missense_Mutation	SNP	G	C3N-02423_TP	3554801	80303675	161889854	65	30984											
PROM2	0	.	GRCh38	chr2	95285051	95285051	+	Missense_Mutation	SNP	G	G	T																															gctgagctcagccgcccgccGggacctggaggccctgcaga																								rs752468517,rs769427179		C3N-02423_TP	C3N-02423_NB	G	G																c.1811G>T	p.Arg604Leu	p.R604L	ENST00000317620	15/24	249	217	32	191	191	0	strelka-varscan	PROM2,missense_variant,p.Arg604Leu,ENST00000317620,NM_001165978.1;PROM2,missense_variant,p.Arg604Leu,ENST00000317668,NM_144707.2;PROM2,missense_variant,p.Arg604Leu,ENST00000403131,NM_001165977.1;PROM2,intron_variant,,ENST00000497110,;PROM2,upstream_gene_variant,,ENST00000462029,;PROM2,upstream_gene_variant,,ENST00000495540,;PROM2,3_prime_UTR_variant,,ENST00000431567,NM_001321070.1;PROM2,non_coding_transcript_exon_variant,,ENST00000487138,;	T	ENST00000317620	Transcript	missense_variant	1944/4728	1811/2505	604/834	R/L	cGg/cTg	rs752468517,rs769427179	1		1	PROM2	HGNC	HGNC:20685	protein_coding	YES	CCDS2012.1	ENSP00000318270	Q8N271		UPI0000071157	NM_001165978.1	deleterious(0.01)		15/24		hmmpanther:PTHR22730:SF6,hmmpanther:PTHR22730,Pfam_domain:PF05478																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	95285051	95285051	G	T	1	0	0	0	0	1	0	0	0	12688	1116	39	1		1	PROM2	2	95285051	Missense_Mutation	SNP	G	C3N-02423_TP	14981376	95285051	146908478	66	30985	634	2									
PROM2	0	.	GRCh38	chr2	95285052	95285052	+	Silent	SNP	G	G	T																															ctgagctcagccgcccgccgGgacctggaggccctgcagag																								novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1812G>T	p.=	p.R604R	ENST00000317620	15/24	248	215	33	187	187	0	strelka-varscan	PROM2,synonymous_variant,p.=,ENST00000317620,NM_001165978.1;PROM2,synonymous_variant,p.=,ENST00000317668,NM_144707.2;PROM2,synonymous_variant,p.=,ENST00000403131,NM_001165977.1;PROM2,intron_variant,,ENST00000497110,;PROM2,upstream_gene_variant,,ENST00000462029,;PROM2,upstream_gene_variant,,ENST00000495540,;PROM2,3_prime_UTR_variant,,ENST00000431567,NM_001321070.1;PROM2,non_coding_transcript_exon_variant,,ENST00000487138,;	T	ENST00000317620	Transcript	synonymous_variant	1945/4728	1812/2505	604/834	R	cgG/cgT		1		1	PROM2	HGNC	HGNC:20685	protein_coding	YES	CCDS2012.1	ENSP00000318270	Q8N271		UPI0000071157	NM_001165978.1			15/24		hmmpanther:PTHR22730:SF6,hmmpanther:PTHR22730,Pfam_domain:PF05478																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	95285052	95285052	G	T	1	0	0	0	0	0	0	0	1	12688	1219	43	2		2	PROM2	2	95285052	Silent	SNP	G	C3N-02423_TP	1	95285052	146908477	67	30986	634	2									
IL1RL1	0	.	GRCh38	chr2	102338882	102338882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctttaattgtaagatGtcctagacaaggaaaaccta	15	11	9	6	0	0	3	0	1	0	2	1	4	1	4	2	2	1	2	2	2	7	6	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.107G>A	p.Cys36Tyr	p.C36Y	ENST00000233954	3/11	224	181	43	215	215	0	strelka-varscan	IL1RL1,missense_variant,p.Cys36Tyr,ENST00000311734,NM_003856.3;IL1RL1,missense_variant,p.Cys36Tyr,ENST00000409584,;IL1RL1,missense_variant,p.Cys36Tyr,ENST00000233954,NM_016232.4;IL1RL1,missense_variant,p.Cys36Tyr,ENST00000447231,;IL1RL1,intron_variant,,ENST00000404917,NM_001282408.1;IL18R1,intron_variant,,ENST00000410040,;IL1RL1,non_coding_transcript_exon_variant,,ENST00000473175,;IL1RL1,non_coding_transcript_exon_variant,,ENST00000482701,;IL1RL1,missense_variant,p.Cys36Tyr,ENST00000427077,;IL1RL1,non_coding_transcript_exon_variant,,ENST00000463990,;	A	ENST00000233954	Transcript	missense_variant	378/2058	107/1671	36/556	C/Y	tGt/tAt		1		1	IL1RL1	HGNC	HGNC:5998	protein_coding	YES	CCDS2057.1	ENSP00000233954	Q01638		UPI000013C992	NM_016232.4	deleterious(0)		3/11		Gene3D:2.60.40.10,Pfam_domain:PF07679,Prints_domain:PR01536,PROSITE_profiles:PS50835,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF7,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	102338882	102338882	G	A	1	0	0	0	0	1	0	0	0	7566	1377	48	3		3	IL1RL1	2	102338882	Missense_Mutation	SNP	G	C3N-02423_TP	7053830	102338882	139854647	68	30987											
SLC5A7	0	.	GRCh38	chr2	107997988	107997988	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcatttttgtagggctggTaagtgggagcacccaagatt	9	13	13	6	0	0	1	0	0	0	1	0	2	0	2	1	3	2	5	1	3	3	6	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.597+2T>C		p.X199_splice	ENST00000264047		100	90	10	74	74	0	strelka-varscan	SLC5A7,splice_donor_variant,,ENST00000264047,NM_001305006.1,NM_001305007.1,NM_001305005.1,NM_021815.3;SLC5A7,splice_donor_variant,,ENST00000409059,;	C	ENST00000264047	Transcript	splice_donor_variant	-/5152	597/1743	199/580				1		1	SLC5A7	HGNC	HGNC:14025	protein_coding	YES	CCDS2074.1	ENSP00000264047	Q9GZV3		UPI0000070792	NM_001305006.1,NM_001305007.1,NM_001305005.1,NM_021815.3				5/8																		HIGH	1	SNV	1			1										PASS		.	.												C	5	2	99	107997988	107997988	T	C	1	0	0	0	0	0	0	1	0	14953	1652	57	5		5	SLC5A7	2	107997988	Splice_Site	SNP	T	C3N-02423_TP	5659106	107997988	134195541	69	30988											
AMER3	0	.	GRCh38	chr2	130763048	130763048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagcagcgtgccctcctaGgcccgtggctttcaggcccc	5	7	12	17	2	1	0	1	0	0	0	2	0	2	0	5	3	4	3	5	3	1	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.976G>A	p.Gly326Ser	p.G326S	ENST00000423981	2/2	216	204	12	225	225	0	strelka-varscan	AMER3,missense_variant,p.Gly326Ser,ENST00000423981,NM_001105193.1,NM_001105195.1,NM_001105194.1;AMER3,missense_variant,p.Gly326Ser,ENST00000321420,NM_152698.2;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;	A	ENST00000423981	Transcript	missense_variant	1086/6172	976/2586	326/861	G/S	Ggc/Agc		1		1	AMER3	HGNC	HGNC:26771	protein_coding	YES	CCDS2164.1	ENSP00000392700	Q8N944		UPI0000D61239	NM_001105193.1,NM_001105195.1,NM_001105194.1	tolerated(0.1)		2/2		hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2,Pfam_domain:PF09422																	MODERATE	1	SNV	4			1										PASS		.	.												A	3	1	99	130763048	130763048	G	A	1	0	0	0	0	1	0	0	0	669	1000	35	3		3	AMER3	2	130763048	Missense_Mutation	SNP	G	C3N-02423_TP	22765060	130763048	111430481	70	30989											
XIRP2	0	.	GRCh38	chr2	167245149	167245149	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccaattgataagataaaaGaaagccaagaaggtgatgaa	22	6	9	4	0	0	6	0	3	0	3	0	6	0	6	2	1	2	0	2	1	9	3	rs751292919		C3N-02423_TP	C3N-02423_NB	G	G																c.3757G>C	p.Glu1253Gln	p.E1253Q	ENST00000409195	9/11	191	176	15	219	219	0	strelka-varscan	XIRP2,missense_variant,p.Glu1253Gln,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Glu1031Gln,ENST00000409273,NM_001199144.1;XIRP2,missense_variant,p.Glu1078Gln,ENST00000628543,;XIRP2,intron_variant,,ENST00000409728,NM_001199143.1;XIRP2,intron_variant,,ENST00000409043,NM_001079810.3;XIRP2,intron_variant,,ENST00000409605,NM_001199145.1;XIRP2,upstream_gene_variant,,ENST00000295237,;	C	ENST00000409195	Transcript	missense_variant	3846/12675	3757/10650	1253/3549	E/Q	Gaa/Caa	rs751292919	1		1	XIRP2	HGNC	HGNC:14303	protein_coding	YES	CCDS42769.1	ENSP00000386840	A4UGR9		UPI0000E9BBED	NM_152381.5	deleterious(0.01)		9/11		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	99	167245149	167245149	G	C	1	0	0	0	0	1	0	0	0	17989	943	33	4		4	XIRP2	2	167245149	Missense_Mutation	SNP	G	C3N-02423_TP	36482101	167245149	74948380	71	30990											
ABCB11	0	.	GRCh38	chr2	168935363	168935363	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtctcaagtgcttcaatGaaccgcctctcctttccaat	9	13	5	14	1	4	1	3	1	2	0	7	1	5	1	4	0	2	1	4	0	4	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2877C>T	p.=	p.F959F	ENST00000263817	23/28	164	154	10	168	168	0	strelka-varscan	ABCB11,synonymous_variant,p.=,ENST00000263817,NM_003742.2;ABCB11,3_prime_UTR_variant,,ENST00000439188,;	A	ENST00000263817	Transcript	synonymous_variant	3002/4775	2877/3966	959/1321	F	ttC/ttT		1		-1	ABCB11	HGNC	HGNC:42	protein_coding	YES	CCDS46444.1	ENSP00000263817	O95342		UPI0000163BFA	NM_003742.2			23/28		PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF165,hmmpanther:PTHR24221,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	168935363	168935363	G	A	1	0	0	0	0	0	0	0	1	46	1281	45	3		3	ABCB11	2	168935363	Silent	SNP	G	C3N-02423_TP	1690214	168935363	73258166	72	30991											
TLK1	0	.	GRCh38	chr2	171006537	171006537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatatcttagtgcatttaCaatctgcattacaatagacc	14	13	6	8	0	2	2	0	0	2	2	2	3	2	2	1	0	4	2	1	0	7	6	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1705G>A	p.Val569Ile	p.V569I	ENST00000431350	17/21	155	147	8	166	166	0	strelka-varscan	TLK1,missense_variant,p.Val590Ile,ENST00000360843,;TLK1,missense_variant,p.Val569Ile,ENST00000431350,NM_012290.4;TLK1,missense_variant,p.Val521Ile,ENST00000521943,NM_001136554.1;TLK1,missense_variant,p.Val473Ile,ENST00000434911,NM_001136555.1;TLK1,3_prime_UTR_variant,,ENST00000359766,;TLK1,3_prime_UTR_variant,,ENST00000409443,;	T	ENST00000431350	Transcript	missense_variant	2110/5663	1705/2301	569/766	V/I	Gta/Ata		1		-1	TLK1	HGNC	HGNC:11841	protein_coding	YES	CCDS2241.1	ENSP00000411099	Q9UKI8		UPI0000073255	NM_012290.4	deleterious(0.03)		17/21		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF22,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	171006537	171006537	C	T	1	0	0	0	0	1	0	0	0	16389	478	17	3		3	TLK1	2	171006537	Missense_Mutation	SNP	C	C3N-02423_TP	2071174	171006537	71186992	73	30992											
TTN	0	.	GRCh38	chr2	178645930	178645930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattttttacctttaagttgGaatattttctccttcacatc	9	20	3	9	0	2	0	1	0	1	0	4	1	2	1	2	1	1	1	2	1	4	10	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.40398C>A	p.Phe13466Leu	p.F13466L	ENST00000589042	217/363	121	101	20	115	115	0	strelka-varscan	TTN,missense_variant,p.Phe13466Leu,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Phe11825Leu,ENST00000591111,;TTN,missense_variant,p.Phe11825Leu,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Phe10898Leu,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Phe305Leu,ENST00000446966,;TTN,missense_variant,p.Phe173Leu,ENST00000426232,;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000342175,NM_133437.4;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000414766,;RP11-171I2.3,downstream_gene_variant,,ENST00000605021,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000625536,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000625480,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000626117,;TTN-AS1,intron_variant,,ENST00000589830,;TTN-AS1,downstream_gene_variant,,ENST00000590807,;TTN-AS1,downstream_gene_variant,,ENST00000628826,;TTN-AS1,downstream_gene_variant,,ENST00000418062,;	T	ENST00000589042	Transcript	missense_variant	40623/109224	40398/107976	13466/35991	F/L	ttC/ttA		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			217/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	99	178645930	178645930	G	T	1	0	0	0	0	1	0	0	0	17245	1165	41	2		2	TTN	2	178645930	Missense_Mutation	SNP	G	C3N-02423_TP	7639393	178645930	63547599	74	30993											
TTN	0	.	GRCh38	chr2	178775665	178775665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggacttagttcaatcttgtCaggtttaaaagttggaatcg	12	14	10	5	1	3	0	2	0	1	0	4	2	3	2	0	3	0	3	0	3	5	6	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.6199G>C	p.Asp2067His	p.D2067H	ENST00000589042	28/363	457	419	38	469	468	1	strelka-varscan	TTN,missense_variant,p.Asp2067His,ENST00000589042,NM_001267550.2;TTN,missense_variant,p.Asp2067His,ENST00000591111,;TTN,missense_variant,p.Asp2067His,ENST00000615779,NM_001256850.1;TTN,missense_variant,p.Asp2067His,ENST00000342992,NM_133378.4;TTN,missense_variant,p.Asp2021His,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Asp2021His,ENST00000342175,NM_133437.4;TTN,missense_variant,p.Asp2021His,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Asp2067His,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000629094,;TTN-AS1,upstream_gene_variant,,ENST00000582038,;TTN-AS1,downstream_gene_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000584485,;TTN-AS1,downstream_gene_variant,,ENST00000610005,;	G	ENST00000589042	Transcript	missense_variant	6424/109224	6199/107976	2067/35991	D/H	Gac/Cac		1		-1	TTN	HGNC	HGNC:12403	protein_coding	YES	CCDS59435.1	ENSP00000467141		A0A0A0MTS7	UPI00046209C6	NM_001267550.2			28/363		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	99	178775665	178775665	C	G	1	0	0	0	0	1	0	0	0	17245	826	29	4		4	TTN	2	178775665	Missense_Mutation	SNP	C	C3N-02423_TP	129735	178775665	63417864	75	30994											
FAM171B	0	.	GRCh38	chr2	186753961	186753961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatcatggtcggggaatGgtcaaggaacataacaatca	16	8	11	6	1	3	0	3	0	0	0	4	2	3	2	0	5	2	1	0	5	7	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.924G>T	p.Met308Ile	p.M308I	ENST00000304698	6/8	281	242	39	268	268	0	strelka-varscan	FAM171B,missense_variant,p.Met308Ile,ENST00000304698,NM_177454.3;FAM171B,downstream_gene_variant,,ENST00000612606,;	T	ENST00000304698	Transcript	missense_variant	1127/5826	924/2481	308/826	M/I	atG/atT		1		1	FAM171B	HGNC	HGNC:29412	protein_coding	YES	CCDS33347.1	ENSP00000304108	Q6P995		UPI0000161631	NM_177454.3	tolerated(1)		6/8		hmmpanther:PTHR31626:SF2,hmmpanther:PTHR31626,Pfam_domain:PF10577																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	186753961	186753961	G	T	1	0	0	0	0	1	0	0	0	5339	1348	47	2		2	FAM171B	2	186753961	Missense_Mutation	SNP	G	C3N-02423_TP	7978296	186753961	55439568	76	30995											
DNAH7	0	.	GRCh38	chr2	195960858	195960858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcataaagacgaagataagGgttcaagccatcttggattt	14	12	9	6	1	3	2	2	0	1	2	3	4	3	3	1	2	1	1	1	2	5	6	rs759132556		C3N-02423_TP	C3N-02423_NB	G	G																c.2293C>T	p.Pro765Ser	p.P765S	ENST00000312428	18/65	108	92	16	95	95	0	strelka-varscan-mutect	DNAH7,missense_variant,p.Pro765Ser,ENST00000312428,NM_018897.2;	A	ENST00000312428	Transcript	missense_variant	2394/12394	2293/12075	765/4024	P/S	Cct/Tct	rs759132556	1		-1	DNAH7	HGNC	HGNC:18661	protein_coding	YES	CCDS42794.1	ENSP00000311273	Q8WXX0		UPI0000141B95	NM_018897.2	deleterious(0)		18/65		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF08393																	MODERATE	1	SNV	1			1										PASS		rs759132556	.												A	3	1	99	195960858	195960858	G	A	1	0	0	0	0	1	0	0	0	4421	1232	43	3		3	DNAH7	2	195960858	Missense_Mutation	SNP	G	C3N-02423_TP	9206897	195960858	46232671	77	30996											
TRAK2	0	.	GRCh38	chr2	201380798	201380798	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtccactaagttcatcttCaactggccaacatcaggagg	11	10	8	12	0	4	0	3	0	1	0	5	1	5	1	2	3	2	1	2	3	3	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.2490G>A	p.=	p.L830L	ENST00000332624	16/16	470	446	24	449	448	1	strelka-varscan-mutect	TRAK2,synonymous_variant,p.=,ENST00000332624,NM_015049.2;	T	ENST00000332624	Transcript	synonymous_variant	2919/6510	2490/2745	830/914	L	ttG/ttA		1		-1	TRAK2	HGNC	HGNC:13206	protein_coding	YES	CCDS2347.1	ENSP00000328875	O60296		UPI0000125022	NM_015049.2			16/16		hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF13																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	201380798	201380798	C	T	1	0	0	0	0	0	0	0	1	16933	825	29	3		3	TRAK2	2	201380798	Silent	SNP	C	C3N-02423_TP	5419940	201380798	40812731	78	30997											
PIKFYVE	0	.	GRCh38	chr2	208326076	208326076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagagcaggtttactggtctCctctcctcaataaagaattc	11	12	7	11	0	3	2	1	0	2	2	6	2	3	2	2	2	2	2	2	2	5	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.3265C>T	p.Pro1089Ser	p.P1089S	ENST00000264380	20/42	263	245	18	253	253	0	strelka-varscan-mutect	PIKFYVE,missense_variant,p.Pro1089Ser,ENST00000264380,NM_015040.3;PIKFYVE,missense_variant,p.Pro1033Ser,ENST00000452564,;PIKFYVE,3_prime_UTR_variant,,ENST00000443896,;	T	ENST00000264380	Transcript	missense_variant	3423/9901	3265/6297	1089/2098	P/S	Cct/Tct		1		1	PIKFYVE	HGNC	HGNC:23785	protein_coding	YES	CCDS2382.1	ENSP00000264380	Q9Y2I7		UPI0000366FD6	NM_015040.3	deleterious(0.01)		20/42																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	208326076	208326076	C	T	1	0	0	0	0	1	0	0	0	12019	855	30	3		3	PIKFYVE	2	208326076	Missense_Mutation	SNP	C	C3N-02423_TP	6945278	208326076	33867453	79	30998											
MAP2	0	.	GRCh38	chr2	209693278	209693278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatagttttaaaattgaaGagccccatgaggctaaacct	16	10	8	7	0	0	4	0	2	0	2	0	4	0	4	3	1	2	2	3	1	7	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1108G>A	p.Glu370Lys	p.E370K	ENST00000360351	7/15	241	225	16	214	214	0	strelka-varscan-mutect	MAP2,missense_variant,p.Glu370Lys,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Glu366Lys,ENST00000447185,;MAP2,missense_variant,p.Glu452Lys,ENST00000445941,;MAP2,intron_variant,,ENST00000392194,NM_031845.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1,NM_031847.2;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;	A	ENST00000360351	Transcript	missense_variant	1614/9711	1108/5484	370/1827	E/K	Gag/Aag		1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3	tolerated_low_confidence(0.14)		7/15		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF15																	MODERATE	1	SNV	5			1										PASS		rs1422571918	.												A	3	1	99	209693278	209693278	G	A	1	0	0	0	0	1	0	0	0	9157	943	33	3		3	MAP2	2	209693278	Missense_Mutation	SNP	G	C3N-02423_TP	1367202	209693278	32500251	80	30999											
PAX3	0	.	GRCh38	chr2	222297173	222297173	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgttgataaaaacaccGccgagctggttgacgcggcc	9	7	12	13	5	0	2	0	2	0	0	0	3	0	2	4	2	3	3	4	2	3	3	rs369680052		C3N-02423_TP	C3N-02423_NB	G	G																c.126C>A	p.=	p.G42G	ENST00000392069	2/10	482	403	79	383	383	0	strelka-varscan-mutect	PAX3,synonymous_variant,p.=,ENST00000350526,NM_181457.3;PAX3,synonymous_variant,p.=,ENST00000392069,NM_181459.3;PAX3,synonymous_variant,p.=,ENST00000344493,NM_181461.3;PAX3,synonymous_variant,p.=,ENST00000392070,NM_181458.3;PAX3,synonymous_variant,p.=,ENST00000336840,NM_181460.3;PAX3,synonymous_variant,p.=,ENST00000409551,NM_001127366.2;PAX3,synonymous_variant,p.=,ENST00000409828,NM_000438.5;PAX3,synonymous_variant,p.=,ENST00000258387,NM_013942.4;CCDC140,upstream_gene_variant,,ENST00000295226,NM_153038.1;	T	ENST00000392069	Transcript	synonymous_variant	492/3170	126/1518	42/505	G	ggC/ggA	rs369680052,COSM4711349,COSM4711350,COSM4711351,COSM4711352	1		-1	PAX3	HGNC	HGNC:8617	protein_coding	YES	CCDS2448.1	ENSP00000375921	P23760		UPI00001A8BF0	NM_181459.3			2/10		Gene3D:1.10.10.10,Pfam_domain:PF00292,Prints_domain:PR00027,PROSITE_profiles:PS51057,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF307,SMART_domains:SM00351,Superfamily_domains:SSF46689											0,1,1,1,1						LOW		SNV	5		0,1,1,1,1	1										PASS		rs369680052	.												T	2	4	99	222297173	222297173	G	T	1	0	0	0	0	0	0	0	1	11565	1074	38	1		1	PAX3	2	222297173	Silent	SNP	G	C3N-02423_TP	12603895	222297173	19896356	81	31000											
DNER	0	.	GRCh38	chr2	229447422	229447422	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcacaggtcggccctgtGaagcccgggctgcagttgca	6	7	16	12	2	0	1	0	1	0	0	1	1	0	1	2	4	3	5	2	4	1	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1380C>T	p.=	p.F460F	ENST00000341772	8/13	352	331	21	344	344	0	strelka-varscan-mutect	DNER,synonymous_variant,p.=,ENST00000341772,NM_139072.3;	A	ENST00000341772	Transcript	synonymous_variant	1515/3260	1380/2214	460/737	F	ttC/ttT		1		-1	DNER	HGNC	HGNC:24456	protein_coding	YES	CCDS33390.1	ENSP00000345229	Q8NFT8		UPI0000048EB8	NM_139072.3			8/13		PROSITE_profiles:PS50026,hmmpanther:PTHR24044:SF275,hmmpanther:PTHR24044,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,Pfam_domain:PF00008,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	229447422	229447422	G	A	1	0	0	0	0	0	0	0	1	4480	1281	45	3		3	DNER	2	229447422	Silent	SNP	G	C3N-02423_TP	7150249	229447422	12746107	82	31001											
TRIP12	0	.	GRCh38	chr2	229771524	229771524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atataagctactcacttcctCcgggtagaagtactgaagat	13	11	8	9	1	1	3	1	1	0	2	3	3	3	3	2	1	3	3	2	1	7	6	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.5722G>A	p.Glu1908Lys	p.E1908K	ENST00000389044	39/42	158	150	8	151	151	0	strelka-mutect	TRIP12,missense_variant,p.Glu1860Lys,ENST00000283943,NM_001284215.1,NM_004238.2;TRIP12,missense_variant,p.Glu1908Lys,ENST00000389044,NM_001284214.1;TRIP12,missense_variant,p.Glu1590Lys,ENST00000389045,NM_001284216.1;TRIP12,intron_variant,,ENST00000418123,;TRIP12,downstream_gene_variant,,ENST00000459841,;	T	ENST00000389044	Transcript	missense_variant	5891/6405	5722/6123	1908/2040	E/K	Gag/Aag		1		-1	TRIP12	HGNC	HGNC:12306	protein_coding	YES	CCDS63146.1	ENSP00000373696	Q14669		UPI0000DA6BE7	NM_001284214.1	deleterious(0.01)		39/42		Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	229771524	229771524	C	T	1	0	0	0	0	1	0	0	0	17053	869	30	3		3	TRIP12	2	229771524	Missense_Mutation	SNP	C	C3N-02423_TP	324102	229771524	12422005	83	31002											
UGT1A3	0	.	GRCh38	chr2	233729394	233729394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtggacccaggatgaatttGatcgccatgtgctgggccac	8	9	13	11	2	0	2	0	2	0	0	1	4	0	4	3	3	1	1	3	3	1	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.268G>A	p.Asp90Asn	p.D90N	ENST00000482026	1/5	93	85	8	118	118	0	strelka-varscan-mutect	UGT1A3,missense_variant,p.Asp90Asn,ENST00000482026,NM_019093.2;UGT1A6,intron_variant,,ENST00000305139,NM_001072.3;UGT1A9,intron_variant,,ENST00000354728,NM_021027.2;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A4,intron_variant,,ENST00000373409,NM_007120.2;UGT1A5,intron_variant,,ENST00000373414,NM_019078.1;UGT1A7,intron_variant,,ENST00000373426,NM_019077.2;UGT1A10,intron_variant,,ENST00000373445,;UGT1A6,intron_variant,,ENST00000373424,NM_205862.1;UGT1A6,intron_variant,,ENST00000406651,;UGT1A6,intron_variant,,ENST00000480628,;UGT1A6,intron_variant,,ENST00000478062,;UGT1A4,intron_variant,,ENST00000450233,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A6,intron_variant,,ENST00000484784,;	A	ENST00000482026	Transcript	missense_variant	287/2364	268/1605	90/534	D/N	Gat/Aat		1		1	UGT1A3	HGNC	HGNC:12535	protein_coding	YES	CCDS2509.1	ENSP00000418532	P35503	Q5DT01	UPI0000001045	NM_019093.2	tolerated(0.26)		1/5		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF173,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	233729394	233729394	G	A	1	0	0	0	0	1	0	0	0	17471	1290	45	3		3	UGT1A3	2	233729394	Missense_Mutation	SNP	G	C3N-02423_TP	3957870	233729394	8464135	84	31003											
CNTN4	0	.	GRCh38	chr3	2819531	2819531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcactgtgtctgtccGtcgaggtcaaggaatggtgc	10	9	14	8	2	2	1	1	0	1	1	4	3	3	2	1	3	2	1	1	3	4	0	rs377113483		C3N-02423_TP	C3N-02423_NB	G	G																c.404G>A	p.Arg135His	p.R135H	ENST00000397461	6/24	376	346	30	421	421	0	strelka-varscan-mutect	CNTN4,missense_variant,p.Arg135His,ENST00000397461,NM_001206955.1;CNTN4,missense_variant,p.Arg135His,ENST00000418658,NM_175607.2;CNTN4,missense_variant,p.Arg135His,ENST00000427331,;CNTN4,missense_variant,p.Arg135His,ENST00000427741,;CNTN4,non_coding_transcript_exon_variant,,ENST00000430505,;CNTN4,non_coding_transcript_exon_variant,,ENST00000438282,;	A	ENST00000397461	Transcript	missense_variant	788/5198	404/3081	135/1026	R/H	cGt/cAt	rs377113483,COSM1537661,COSM3392328	1		1	CNTN4	HGNC	HGNC:2174	protein_coding	YES	CCDS43041.1	ENSP00000380602	Q8IWV2	A0A024R2E5	UPI000007446C	NM_001206955.1	deleterious(0.02)		6/24		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF568,Low_complexity_(Seg):seg,SMART_domains:SM00409,Superfamily_domains:SSF48726											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs377113483	.												A	3	1	99	2819531	2819531	G	A	1	0	0	0	0	1	0	0	0	3424	1145	40	1		1	CNTN4	3	2819531	Missense_Mutation	SNP	G	C3N-02423_TP		2819531	195476028	85	31004											
PRRT3	0	.	GRCh38	chr3	9946905	9946905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccactctccgccgggttGcggatgaggctcttgctgat	4	11	13	13	3	2	2	0	2	2	0	3	3	2	3	3	3	3	3	3	3	0	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2268C>T	p.=	p.R756R	ENST00000412055	4/4	303	248	55	261	261	0	strelka-varscan-mutect	PRRT3,synonymous_variant,p.=,ENST00000412055,NM_207351.3;CRELD1,downstream_gene_variant,,ENST00000383811,NM_015513.4;CRELD1,downstream_gene_variant,,ENST00000326434,NM_001031717.3;CRELD1,downstream_gene_variant,,ENST00000452070,NM_001077415.2;CRELD1,downstream_gene_variant,,ENST00000397170,;PRRT3,downstream_gene_variant,,ENST00000411976,NM_001318871.1;CRELD1,downstream_gene_variant,,ENST00000435417,;PRRT3-AS1,upstream_gene_variant,,ENST00000431558,;CRELD1,downstream_gene_variant,,ENST00000489674,;PRRT3,synonymous_variant,p.=,ENST00000295984,;CRELD1,downstream_gene_variant,,ENST00000414117,;CRELD1,downstream_gene_variant,,ENST00000482691,;CRELD1,downstream_gene_variant,,ENST00000467713,;	A	ENST00000412055	Transcript	synonymous_variant	2398/3761	2268/2946	756/981	R	cgC/cgT		1		-1	PRRT3	HGNC	HGNC:26591	protein_coding	YES	CCDS43049.1	ENSP00000392511	Q5FWE3		UPI000019962A	NM_207351.3			4/4		hmmpanther:PTHR21712,hmmpanther:PTHR21712:SF27																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	9946905	9946905	G	A	1	0	0	0	0	0	0	0	1	12757	1306	46	3		3	PRRT3	3	9946905	Silent	SNP	G	C3N-02423_TP	7127374	9946905	188348654	86	31005											
ATG7	0	.	GRCh38	chr3	11299364	11299364	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gataatgcttctgtccaggtGactctgctgggctgccagct	6	12	12	11	0	2	1	0	1	2	0	3	2	3	1	2	2	4	4	2	2	1	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.163G>C	p.Asp55His	p.D55H	ENST00000354449	3/19	246	226	20	200	200	0	strelka-varscan-mutect	ATG7,missense_variant,p.Asp55His,ENST00000354449,NM_006395.2;ATG7,missense_variant,p.Asp55His,ENST00000354956,NM_001136031.2;ATG7,missense_variant,p.Asp55His,ENST00000446450,NM_001144912.1;ATG7,missense_variant,p.Asp55His,ENST00000451513,;ATG7,missense_variant,p.Asp55His,ENST00000435760,;ATG7,missense_variant,p.Asp55His,ENST00000423116,;ATG7,missense_variant,p.Asp55His,ENST00000419112,;ATG7,missense_variant,p.Asp55His,ENST00000444619,;ATG7,missense_variant,p.Asp55His,ENST00000451830,;ATG7,splice_region_variant,,ENST00000469654,;ATG7,splice_region_variant,,ENST00000460444,;ATG7,missense_variant,p.Asp55His,ENST00000418682,;ATG7,downstream_gene_variant,,ENST00000470474,;	C	ENST00000354449	Transcript	missense_variant,splice_region_variant	188/4959	163/2112	55/703	D/H	Gac/Cac		1		1	ATG7	HGNC	HGNC:16935	protein_coding	YES	CCDS2605.1	ENSP00000346437	O95352		UPI00000705C7	NM_006395.2	tolerated(0.08)		3/19		hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF3,Pfam_domain:PF16420,TIGRFAM_domain:TIGR01381																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	11299364	11299364	G	C	1	0	0	0	0	1	0	0	0	1253	1304	45	4		4	ATG7	3	11299364	Missense_Mutation	SNP	G	C3N-02423_TP	1352459	11299364	186996195	87	31006											
HDAC11	0	.	GRCh38	chr3	13483561	13483561	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcgctatcttaatgagctCaaggtacaggatgtcgggcc	10	9	13	9	2	2	1	1	1	1	0	3	2	2	2	1	4	2	3	1	4	4	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.249C>G	p.=	p.L83L	ENST00000295757	3/10	154	146	8	101	101	0	strelka-varscan-mutect	HDAC11,synonymous_variant,p.=,ENST00000295757,NM_024827.3;HDAC11,synonymous_variant,p.=,ENST00000446613,;HDAC11,synonymous_variant,p.=,ENST00000437379,;HDAC11,synonymous_variant,p.=,ENST00000433119,;HDAC11,synonymous_variant,p.=,ENST00000522202,NM_001136041.2;HDAC11,synonymous_variant,p.=,ENST00000402271,;HDAC11,synonymous_variant,p.=,ENST00000404040,;HDAC11,synonymous_variant,p.=,ENST00000405478,;HDAC11,synonymous_variant,p.=,ENST00000455904,;HDAC11,synonymous_variant,p.=,ENST00000416248,;HDAC11,synonymous_variant,p.=,ENST00000418189,;HDAC11,synonymous_variant,p.=,ENST00000404548,;HDAC11,synonymous_variant,p.=,ENST00000405025,;HDAC11,synonymous_variant,p.=,ENST00000434848,;HDAC11,intron_variant,,ENST00000402259,;HDAC11-AS1,upstream_gene_variant,,ENST00000424112,;HDAC11,non_coding_transcript_exon_variant,,ENST00000458642,;HDAC11,non_coding_transcript_exon_variant,,ENST00000475818,;HDAC11,non_coding_transcript_exon_variant,,ENST00000487585,;HDAC11,intron_variant,,ENST00000425430,;	G	ENST00000295757	Transcript	synonymous_variant	432/2960	249/1044	83/347	L	ctC/ctG		1		1	HDAC11	HGNC	HGNC:19086	protein_coding	YES	CCDS2615.1	ENSP00000295757	Q96DB2	A0A024R2I1	UPI000012C3A7	NM_024827.3			3/10		Gene3D:3.40.800.20,Pfam_domain:PF00850,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF112,Superfamily_domains:SSF52768																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	99	13483561	13483561	C	G	1	0	0	0	0	0	0	0	1	6893	840	29	4		4	HDAC11	3	13483561	Silent	SNP	C	C3N-02423_TP	2184197	13483561	184811998	88	31007											
SGO1	0	.	GRCh38	chr3	20161155	20161155	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatttcctacagtctgggaAtctcgaaacaaattctcgaa	14	11	6	10	2	3	0	0	0	3	0	6	3	4	1	1	1	2	0	1	1	5	3	rs755667806		C3N-02423_TP	C3N-02423_NB	A	A																c.1636T>C	p.Phe546Leu	p.F546L	ENST00000263753	9/9	198	163	35	207	207	0	strelka-varscan-mutect	SGO1,missense_variant,p.Phe546Leu,ENST00000263753,NM_001199252.1,NM_001012410.3;SGO1,missense_variant,p.Phe546Leu,ENST00000421451,;SGO1,missense_variant,p.Phe294Leu,ENST00000419233,NM_001012412.3,NM_001199254.1;SGO1,missense_variant,p.Phe277Leu,ENST00000306698,NM_001199256.1,NM_138484.3;SGO1,missense_variant,p.Phe294Leu,ENST00000425061,;SGO1,missense_variant,p.Phe277Leu,ENST00000452020,;SGO1,missense_variant,p.Phe200Leu,ENST00000443724,NM_001199257.1;	G	ENST00000263753	Transcript	missense_variant	1776/2338	1636/1686	546/561	F/L	Ttc/Ctc	rs755667806	1		-1	SGO1	HGNC	HGNC:25088	protein_coding	YES	CCDS33716.1	ENSP00000263753	Q5FBB7		UPI00004CE17A	NM_001199252.1,NM_001012410.3			9/9		hmmpanther:PTHR21577,hmmpanther:PTHR21577:SF3																	MODERATE	1	SNV	1			1										PASS		rs755667806	.												G	3	3	99	20161155	20161155	A	G	1	0	0	0	0	1	0	0	0	14474	101	4	5		5	SGO1	3	20161155	Missense_Mutation	SNP	A	C3N-02423_TP	6677594	20161155	178134404	89	31008											
ARPP21	0	.	GRCh38	chr3	35729316	35729316	+	Silent	SNP	C	C	A																															atgccaggttccgagtcttcCagcagtgcaggctcctcagg																								novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1137C>A	p.=	p.S379S	ENST00000417925	13/19	113	103	10	145	145	0	strelka-varscan-mutect	ARPP21,synonymous_variant,p.=,ENST00000187397,NM_016300.4;ARPP21,synonymous_variant,p.=,ENST00000444190,NM_001267617.1;ARPP21,synonymous_variant,p.=,ENST00000417925,NM_001267619.1;ARPP21,synonymous_variant,p.=,ENST00000425289,;ARPP21,non_coding_transcript_exon_variant,,ENST00000476327,;ARPP21,synonymous_variant,p.=,ENST00000457165,;ARPP21,3_prime_UTR_variant,,ENST00000427590,;ARPP21,non_coding_transcript_exon_variant,,ENST00000481854,;	A	ENST00000417925	Transcript	synonymous_variant	1351/3086	1137/2442	379/813	S	tcC/tcA		1		1	ARPP21	HGNC	HGNC:16968	protein_coding	YES	CCDS58823.1	ENSP00000412326	Q9UBL0		UPI0000209B3D	NM_001267619.1			13/19		hmmpanther:PTHR15672,hmmpanther:PTHR15672:SF14,Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	99	35729316	35729316	C	A	1	0	0	0	0	0	0	0	1	1121	581	21	2		2	ARPP21	3	35729316	Silent	SNP	C	C3N-02423_TP	15568161	35729316	162566243	90	31009	635	2									
ARPP21	0	.	GRCh38	chr3	35729317	35729317	+	Missense_Mutation	SNP	A	A	G																															tgccaggttccgagtcttccAgcagtgcaggctcctcagga																								novel		C3N-02423_TP	C3N-02423_NB	A	A																c.1138A>G	p.Ser380Gly	p.S380G	ENST00000417925	13/19	114	104	10	144	144	0	strelka-varscan-mutect	ARPP21,missense_variant,p.Ser414Gly,ENST00000187397,NM_016300.4;ARPP21,missense_variant,p.Ser360Gly,ENST00000444190,NM_001267617.1;ARPP21,missense_variant,p.Ser380Gly,ENST00000417925,NM_001267619.1;ARPP21,missense_variant,p.Ser187Gly,ENST00000425289,;ARPP21,non_coding_transcript_exon_variant,,ENST00000476327,;ARPP21,missense_variant,p.Ser72Gly,ENST00000457165,;ARPP21,3_prime_UTR_variant,,ENST00000427590,;ARPP21,non_coding_transcript_exon_variant,,ENST00000481854,;	G	ENST00000417925	Transcript	missense_variant	1352/3086	1138/2442	380/813	S/G	Agc/Ggc		1		1	ARPP21	HGNC	HGNC:16968	protein_coding	YES	CCDS58823.1	ENSP00000412326	Q9UBL0		UPI0000209B3D	NM_001267619.1	deleterious(0)		13/19		hmmpanther:PTHR15672,hmmpanther:PTHR15672:SF14,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	99	35729317	35729317	A	G	1	0	0	0	0	1	0	0	0	1121	188	7	5		5	ARPP21	3	35729317	Missense_Mutation	SNP	A	C3N-02423_TP	1	35729317	162566242	91	31010	635	2									
ZNF621	0	.	GRCh38	chr3	40532339	40532339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgtggcaaagctttcaagtCcagctatgattgtattgtac	10	14	10	7	0	1	1	1	1	0	0	2	1	2	1	1	1	3	5	1	1	5	6	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.569C>T	p.Ser190Phe	p.S190F	ENST00000339296	5/5	331	311	20	346	346	0	strelka-varscan-mutect	ZNF621,missense_variant,p.Ser190Phe,ENST00000339296,NM_198484.4;ZNF621,missense_variant,p.Ser79Phe,ENST00000431278,;ZNF621,missense_variant,p.Ser190Phe,ENST00000403205,NM_001098414.2;ZNF621,intron_variant,,ENST00000310898,NM_001287245.1;ZNF621,downstream_gene_variant,,ENST00000453351,;ZNF621,intron_variant,,ENST00000490457,;ZNF621,downstream_gene_variant,,ENST00000462161,;ZNF621,non_coding_transcript_exon_variant,,ENST00000492098,;	T	ENST00000339296	Transcript	missense_variant	1021/6378	569/1320	190/439	S/F	tCc/tTc		1		1	ZNF621	HGNC	HGNC:24787	protein_coding	YES	CCDS2693.1	ENSP00000340841	Q6ZSS3		UPI00001C0DC3	NM_198484.4	tolerated(0.7)		5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF209,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	40532339	40532339	C	T	1	0	0	0	0	1	0	0	0	18620	855	30	3		3	ZNF621	3	40532339	Missense_Mutation	SNP	C	C3N-02423_TP	4803022	40532339	157763220	92	31011											
LTF	0	.	GRCh38	chr3	46437959	46437959	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggaggttgagcactttttCagattagtaatgcctgcgac	9	12	12	8	2	1	2	1	1	0	1	1	4	1	3	1	2	3	3	1	2	2	5	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.2079G>C	p.=	p.L693L	ENST00000231751	16/17	337	316	21	343	343	0	strelka-varscan-mutect	LTF,synonymous_variant,p.=,ENST00000231751,NM_002343.4;LTF,synonymous_variant,p.=,ENST00000443496,NM_001321122.1;LTF,synonymous_variant,p.=,ENST00000426532,NM_001199149.1;LTF,synonymous_variant,p.=,ENST00000417439,;LTF,downstream_gene_variant,,ENST00000493056,;LTF,downstream_gene_variant,,ENST00000478874,;	G	ENST00000231751	Transcript	synonymous_variant	2375/2979	2079/2133	693/710	L	ctG/ctC		1		-1	LTF	HGNC	HGNC:6720	protein_coding	YES	CCDS33747.1	ENSP00000231751	P02788	V9HWI4	UPI000016ABE3	NM_002343.4			16/17		PROSITE_profiles:PS51408,hmmpanther:PTHR11485:SF33,hmmpanther:PTHR11485,PIRSF_domain:PIRSF500683,Pfam_domain:PF00405,PIRSF_domain:PIRSF002549,Gene3D:3.40.190.10,SMART_domains:SM00094,Superfamily_domains:SSF53850																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	99	46437959	46437959	C	G	1	0	0	0	0	0	0	0	1	8985	813	29	4		4	LTF	3	46437959	Silent	SNP	C	C3N-02423_TP	5905620	46437959	151857600	93	31012											
KIF9	0	.	GRCh38	chr3	47271357	47271357	+	Frame_Shift_Del	DEL	G	G	-																															gtgactgagggtccaacataGggcagagtggacaggagatc																								novel		C3N-02423_TP	C3N-02423_NB	G	G																c.471delC	p.Tyr158MetfsTer9	p.Y158Mfs*9	ENST00000335044	5/21	382	351	31	393	393	0	varindel-pindel	KIF9,frameshift_variant,p.Tyr158MetfsTer9,ENST00000335044,NM_001134878.1,NM_182902.3;KIF9,frameshift_variant,p.Tyr158MetfsTer9,ENST00000265529,;KIF9,frameshift_variant,p.Tyr158MetfsTer9,ENST00000444589,NM_022342.4;KIF9,frameshift_variant,p.Tyr158MetfsTer9,ENST00000452770,;KIF9,intron_variant,,ENST00000456548,;KIF9,downstream_gene_variant,,ENST00000425853,;KIF9,downstream_gene_variant,,ENST00000425452,;KIF9,downstream_gene_variant,,ENST00000432493,;KIF9,non_coding_transcript_exon_variant,,ENST00000487440,;KIF9,non_coding_transcript_exon_variant,,ENST00000484629,;KIF9,frameshift_variant,p.Tyr158MetfsTer9,ENST00000443784,;	-	ENST00000335044	Transcript	frameshift_variant	829/3357	471/2373	157/790	P/X	ccC/cc		1		-1	KIF9	HGNC	HGNC:16666	protein_coding	YES	CCDS2752.1	ENSP00000333942	Q9HAQ2		UPI000012DE55	NM_001134878.1,NM_182902.3			5/21		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF191,SMART_domains:SM00129,Superfamily_domains:SSF52540																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	99	47271357	47271357	G	-	1	0	1	0	1	0	0	0	0	8175	987	35	0		0	KIF9	3	47271357	Frame_Shift_Del	DEL	G	C3N-02423_TP	833398	47271357	151024202	94	31013											
C3orf14	0	.	GRCh38	chr3	62321935	62321935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgttttttttctagagtatCacaaagattaatgttacttc	11	19	5	6	1	2	2	1	0	1	2	4	2	2	2	0	0	1	3	0	0	5	9	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.59C>T	p.Ser20Leu	p.S20L	ENST00000494481	4/6	117	110	7	137	136	1	strelka-varscan-mutect	C3orf14,missense_variant,p.Ser20Leu,ENST00000494481,NM_020685.4;C3orf14,missense_variant,p.Ser20Leu,ENST00000542214,;C3orf14,missense_variant,p.Ser20Leu,ENST00000232519,NM_001291942.1;C3orf14,missense_variant,p.Ser20Leu,ENST00000462069,NM_001291941.1;C3orf14,missense_variant,p.Ser20Leu,ENST00000465142,;PTPRG-AS1,intron_variant,,ENST00000490916,;PTPRG-AS1,intron_variant,,ENST00000495542,;PTPRG-AS1,upstream_gene_variant,,ENST00000474795,;PTPRG-AS1,upstream_gene_variant,,ENST00000462497,;PTPRG-AS1,upstream_gene_variant,,ENST00000466893,;PTPRG-AS1,upstream_gene_variant,,ENST00000475371,;PTPRG-AS1,upstream_gene_variant,,ENST00000479018,;PTPRG-AS1,upstream_gene_variant,,ENST00000498655,;C3orf14,non_coding_transcript_exon_variant,,ENST00000486169,;C3orf14,non_coding_transcript_exon_variant,,ENST00000491323,;PTPRG-AS1,upstream_gene_variant,,ENST00000479588,;	T	ENST00000494481	Transcript	missense_variant	373/3525	59/387	20/128	S/L	tCa/tTa		1		1	C3orf14	HGNC	HGNC:25024	protein_coding	YES	CCDS2896.1	ENSP00000418086	Q9HBI5	A0A024R330	UPI00000729BA	NM_020685.4	deleterious(0)		4/6		hmmpanther:PTHR14286,Pfam_domain:PF15134																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	62321935	62321935	C	T	1	0	0	0	0	1	0	0	0	2059	840	29	3		3	C3orf14	3	62321935	Missense_Mutation	SNP	C	C3N-02423_TP	15050578	62321935	135973624	95	31014											
CNTN3	0	.	GRCh38	chr3	74301712	74301712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatagaataggatataactGggctatggttgtctttacct	11	14	11	5	0	1	1	0	0	1	1	1	3	1	3	1	4	2	2	1	4	7	8	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1880C>A	p.Pro627Gln	p.P627Q	ENST00000263665	14/22	156	135	21	195	194	1	strelka-varscan-mutect	CNTN3,missense_variant,p.Pro627Gln,ENST00000263665,NM_020872.2;	T	ENST00000263665	Transcript	missense_variant	1908/4948	1880/3087	627/1028	P/Q	cCa/cAa		1		-1	CNTN3	HGNC	HGNC:2173	protein_coding	YES	CCDS33790.1	ENSP00000263665	Q9P232		UPI00001A7974	NM_020872.2	deleterious(0)		14/22		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF695,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	74301712	74301712	G	T	1	0	0	0	0	1	0	0	0	3423	1348	47	2		2	CNTN3	3	74301712	Missense_Mutation	SNP	G	C3N-02423_TP	11979777	74301712	123993847	96	31015											
TOMM70	0	.	GRCh38	chr3	100400791	100400791	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacaggtatatggcaccCgcgcccagcagcaggggtgc	8	5	13	15	2	0	0	0	0	0	0	1	0	1	0	3	4	3	4	3	4	2	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.159G>T	p.=	p.A53A	ENST00000284320	1/12	164	150	14	199	199	0	strelka-varscan-mutect	TOMM70,synonymous_variant,p.=,ENST00000284320,NM_014820.4;LNP1,upstream_gene_variant,,ENST00000383693,NM_001085451.1;LNP1,upstream_gene_variant,,ENST00000489752,;LNP1,upstream_gene_variant,,ENST00000466996,;	A	ENST00000284320	Transcript	synonymous_variant	608/4409	159/1827	53/608	A	gcG/gcT		1		-1	TOMM70	HGNC	HGNC:11985	protein_coding	YES	CCDS33807.1	ENSP00000284320	O94826		UPI0000000C55	NM_014820.4			1/12		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22904:SF375,hmmpanther:PTHR22904																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	100400791	100400791	C	A	1	0	0	0	0	0	0	0	1	16837	639	23	1		1	TOMM70	3	100400791	Silent	SNP	C	C3N-02423_TP	26099079	100400791	97894768	97	31016											
HHLA2	0	.	GRCh38	chr3	108358070	108358070	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgacttctctatgaatttGatggatcttaatctttcaga	11	17	7	6	0	4	4	1	3	3	1	5	5	4	5	0	1	0	0	0	1	3	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.912G>C	p.Leu304Phe	p.L304F	ENST00000357759	6/10	175	158	17	189	189	0	strelka-varscan-mutect	HHLA2,missense_variant,p.Leu304Phe,ENST00000357759,NM_007072.3;HHLA2,missense_variant,p.Leu207Phe,ENST00000482099,;HHLA2,missense_variant,p.Leu304Phe,ENST00000619531,NM_001282556.1;HHLA2,missense_variant,p.Leu304Phe,ENST00000489514,NM_001282557.1;HHLA2,missense_variant,p.Leu304Phe,ENST00000467761,;HHLA2,missense_variant,p.Leu240Phe,ENST00000467562,NM_001282559.1;HHLA2,missense_variant,p.Leu304Phe,ENST00000491820,NM_001282558.1;HHLA2,downstream_gene_variant,,ENST00000463019,;HHLA2,downstream_gene_variant,,ENST00000462629,;HHLA2,downstream_gene_variant,,ENST00000482430,;HHLA2,downstream_gene_variant,,ENST00000467282,;	C	ENST00000357759	Transcript	missense_variant	1326/2666	912/1245	304/414	L/F	ttG/ttC		1		1	HHLA2	HGNC	HGNC:4905	protein_coding	YES	CCDS46883.1	ENSP00000350402	Q9UM44		UPI0000073CD9	NM_007072.3	deleterious(0.01)		6/10		PROSITE_profiles:PS50835,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		rs952513353	.												C	3	2	99	108358070	108358070	G	C	1	0	0	0	0	1	0	0	0	6981	1281	45	4		4	HHLA2	3	108358070	Missense_Mutation	SNP	G	C3N-02423_TP	7957279	108358070	89937489	98	31017											
DTX3L	0	.	GRCh38	chr3	122569254	122569254	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcccactataaacttttaGaaactgaattactacaggag	15	11	7	8	0	0	2	0	1	0	1	0	3	0	3	1	1	5	0	1	1	8	6	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1165G>C	p.Glu389Gln	p.E389Q	ENST00000296161	3/5	165	154	11	179	179	0	strelka-varscan-mutect	DTX3L,missense_variant,p.Glu389Gln,ENST00000296161,NM_138287.3;DTX3L,intron_variant,,ENST00000383661,;PARP9,upstream_gene_variant,,ENST00000462315,NM_001146106.1;PARP9,upstream_gene_variant,,ENST00000360356,NM_001146102.1,NM_031458.2;PARP9,upstream_gene_variant,,ENST00000477522,NM_001146103.1,NM_001146105.1;	C	ENST00000296161	Transcript	missense_variant	1354/5868	1165/2223	389/740	E/Q	Gaa/Caa		1		1	DTX3L	HGNC	HGNC:30323	protein_coding	YES	CCDS3015.1	ENSP00000296161	Q8TDB6		UPI000000D9D0	NM_138287.3	tolerated(0.06)		3/5		hmmpanther:PTHR12622:SF23,hmmpanther:PTHR12622																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	122569254	122569254	G	C	1	0	0	0	0	1	0	0	0	4619	943	33	4		4	DTX3L	3	122569254	Missense_Mutation	SNP	G	C3N-02423_TP	14211184	122569254	75726305	99	31018											
MYLK	0	.	GRCh38	chr3	123708819	123708819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctgtgctgagttcctctCtgttcaaagtggaagtcctc	7	13	11	10	0	2	1	1	1	1	0	6	2	4	2	2	2	1	4	2	2	2	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.2019G>C	p.Gln673His	p.Q673H	ENST00000360304	14/33	161	148	13	175	175	0	varscan-mutect	MYLK,missense_variant,p.Gln673His,ENST00000360772,;MYLK,missense_variant,p.Gln673His,ENST00000360304,NM_001321309.1,NM_053025.3;MYLK,missense_variant,p.Gln673His,ENST00000359169,NM_053027.3;MYLK,missense_variant,p.Gln604His,ENST00000354792,;MYLK,missense_variant,p.Gln604His,ENST00000346322,NM_053028.3,NM_053026.3;MYLK,missense_variant,p.Gln673His,ENST00000475616,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,downstream_gene_variant,,ENST00000514623,;	G	ENST00000360304	Transcript	missense_variant	2205/7738	2019/5745	673/1914	Q/H	caG/caC		1		-1	MYLK	HGNC	HGNC:7590	protein_coding	YES	CCDS46896.1	ENSP00000353452	Q15746		UPI000020A0AE	NM_001321309.1,NM_053025.3	deleterious(0.01)		14/33		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF700,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	99	123708819	123708819	C	G	1	0	0	0	0	1	0	0	0	10056	912	32	4		4	MYLK	3	123708819	Missense_Mutation	SNP	C	C3N-02423_TP	1139565	123708819	74586740	100	31019											
KALRN	0	.	GRCh38	chr3	124713018	124713018	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgttagcaaaaaaatgaAgaagaaagaacaggctgccc	19	7	9	6	0	0	4	0	1	0	3	0	4	0	4	1	1	3	3	1	1	8	2	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.3068A>G	p.Lys1023Arg	p.K1023R	ENST00000291478	25/27	306	255	51	313	312	1	strelka-varscan-mutect	KALRN,missense_variant,p.Lys1023Arg,ENST00000291478,NM_001322993.1,NM_007064.3;KALRN,missense_variant,p.Lys2720Arg,ENST00000360013,NM_001024660.3;KALRN,missense_variant,p.Lys2689Arg,ENST00000354186,;	G	ENST00000291478	Transcript	missense_variant	3231/10888	3068/3870	1023/1289	K/R	aAg/aGg		1		1	KALRN	HGNC	HGNC:4814	protein_coding		CCDS3028.1	ENSP00000291478	O60229		UPI00001AEB7E	NM_001322993.1,NM_007064.3	tolerated(0.44)		25/27		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,Low_complexity_(Seg):seg,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	124713018	124713018	A	G	1	0	0	0	0	1	0	0	0	7884	72	3	5		5	KALRN	3	124713018	Missense_Mutation	SNP	A	C3N-02423_TP	1004199	124713018	73582541	101	31020											
ZNF148	0	.	GRCh38	chr3	125233299	125233299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttacttgctgcttgaagaTaccgcttcttcttcaaaaac	10	15	6	10	1	3	2	1	1	2	1	3	2	3	2	1	0	5	4	1	0	5	7			C3N-02423_TP	C3N-02423_NB	T	T																c.1427A>G	p.Tyr476Cys	p.Y476C	ENST00000360647	9/9	192	180	12	224	224	0	strelka-varscan-mutect	ZNF148,missense_variant,p.Tyr476Cys,ENST00000360647,NM_021964.2;ZNF148,missense_variant,p.Tyr476Cys,ENST00000485866,;ZNF148,missense_variant,p.Tyr476Cys,ENST00000484491,;ZNF148,missense_variant,p.Tyr476Cys,ENST00000492394,;ZNF148,intron_variant,,ENST00000468369,;ZNF148,non_coding_transcript_exon_variant,,ENST00000497929,;ZNF148,upstream_gene_variant,,ENST00000496732,;	C	ENST00000360647	Transcript	missense_variant	1913/9651	1427/2385	476/794	Y/C	tAt/tGt	COSM1037649	1		-1	ZNF148	HGNC	HGNC:12933	protein_coding	YES	CCDS3031.1	ENSP00000353863	Q9UQR1		UPI000013C2FF	NM_021964.2	deleterious(0)		9/9													1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	99	125233299	125233299	T	C	1	0	0	0	0	1	0	0	0	18315	1406	49	5		5	ZNF148	3	125233299	Missense_Mutation	SNP	T	C3N-02423_TP	520281	125233299	73062260	102	31021											
SLC41A3	0	.	GRCh38	chr3	126033639	126033639	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttgctgctgatgactcTgtgctgctcctgggggtcat	4	13	14	10	0	2	2	1	2	1	0	3	2	3	2	1	3	4	5	1	3	0	1	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.421A>G	p.Arg141Gly	p.R141G	ENST00000315891	4/12	234	212	22	271	271	0	strelka-varscan-mutect	SLC41A3,missense_variant,p.Arg115Gly,ENST00000383598,NM_001008487.1;SLC41A3,missense_variant,p.Arg141Gly,ENST00000360370,NM_017836.3;SLC41A3,missense_variant,p.Arg141Gly,ENST00000315891,NM_001008485.1;SLC41A3,missense_variant,p.Arg105Gly,ENST00000346785,NM_001008486.1;SLC41A3,missense_variant,p.Arg24Gly,ENST00000508835,NM_001164475.1;SLC41A3,missense_variant,p.Arg156Gly,ENST00000514677,;SLC41A3,missense_variant,p.Arg193Gly,ENST00000513723,;SLC41A3,missense_variant,p.Arg141Gly,ENST00000512470,;SLC41A3,missense_variant,p.Arg105Gly,ENST00000514333,;SLC41A3,missense_variant,p.Arg141Gly,ENST00000507280,;SLC41A3,missense_variant,p.Arg141Gly,ENST00000514891,;SLC41A3,missense_variant,p.Arg141Gly,ENST00000504035,;SLC41A3,intron_variant,,ENST00000510651,;SLC41A3,downstream_gene_variant,,ENST00000509064,;SLC41A3,non_coding_transcript_exon_variant,,ENST00000514023,;SLC41A3,missense_variant,p.Arg24Gly,ENST00000507008,;SLC41A3,non_coding_transcript_exon_variant,,ENST00000513464,;	C	ENST00000315891	Transcript	missense_variant	660/1797	421/1524	141/507	R/G	Aga/Gga		1		-1	SLC41A3	HGNC	HGNC:31046	protein_coding	YES	CCDS33843.1	ENSP00000326070	Q96GZ6		UPI000013D523	NM_001008485.1	deleterious(0.04)		4/12		hmmpanther:PTHR16228:SF22,hmmpanther:PTHR16228,Gene3D:2zy9B03,Pfam_domain:PF01769,Superfamily_domains:0054748																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	126033639	126033639	T	C	1	0	0	0	0	1	0	0	0	14909	1588	55	5		5	SLC41A3	3	126033639	Missense_Mutation	SNP	T	C3N-02423_TP	800340	126033639	72261920	103	31022											
EEFSEC	0	.	GRCh38	chr3	128153658	128153658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgcggcatcacgctcgatCtgggcttctcgtgcttctcg	4	11	12	14	6	4	0	1	0	3	0	7	1	4	0	0	2	2	4	0	2	0	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.151C>G	p.Leu51Val	p.L51V	ENST00000254730	1/7	383	347	36	393	393	0	strelka-varscan-mutect	EEFSEC,missense_variant,p.Leu51Val,ENST00000254730,NM_021937.4;EEFSEC,missense_variant,p.Leu51Val,ENST00000483457,;RUVBL1,5_prime_UTR_variant,,ENST00000464873,NM_001319086.1;EEFSEC,upstream_gene_variant,,ENST00000484438,;	G	ENST00000254730	Transcript	missense_variant	205/2232	151/1791	51/596	L/V	Ctg/Gtg		1		1	EEFSEC	HGNC	HGNC:24614	protein_coding	YES	CCDS33849.1	ENSP00000254730	P57772		UPI000013CE58	NM_021937.4	deleterious(0)		1/7		Gene3D:3.40.50.300,Pfam_domain:PF00009,PROSITE_profiles:PS51722,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF91,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	128153658	128153658	C	G	1	0	0	0	0	1	0	0	0	4762	912	32	4		4	EEFSEC	3	128153658	Missense_Mutation	SNP	C	C3N-02423_TP	2120019	128153658	70141901	104	31023											
COL6A5	0	.	GRCh38	chr3	130391213	130391213	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactactagacgttgtgttTgtgctggatcattcaggtag	9	14	11	7	1	2	1	2	0	0	1	2	2	2	2	0	2	2	4	0	2	3	6	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.2451T>A	p.Phe817Leu	p.F817L	ENST00000265379	7/43	116	96	20	134	134	0	strelka-varscan-mutect	COL6A5,missense_variant,p.Phe817Leu,ENST00000265379,NM_153264.6,NM_001278298.1;COL6A5,missense_variant,p.Phe817Leu,ENST00000312481,;	A	ENST00000265379	Transcript	missense_variant	2945/9214	2451/7836	817/2611	F/L	ttT/ttA		1		1	COL6A5	HGNC	HGNC:26674	protein_coding	YES		ENSP00000265379		E9PAL5	UPI0004E4C944	NM_153264.6,NM_001278298.1	deleterious(0)		7/43		PROSITE_profiles:PS50234,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	99	130391213	130391213	T	A	1	0	0	0	0	1	0	0	0	3491	1809	63	4		4	COL6A5	3	130391213	Missense_Mutation	SNP	T	C3N-02423_TP	2237555	130391213	67904346	105	31024											
TF	0	.	GRCh38	chr3	133777164	133777164	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttggccaaacttcatgacaGaaacacatatgaaaaatact	18	10	5	8	0	1	3	1	2	0	1	1	3	1	3	1	1	3	0	1	1	6	4			C3N-02423_TP	C3N-02423_NB	G	G																c.1988G>C	p.Arg663Thr	p.R663T	ENST00000402696	16/17	330	312	18	323	323	0	strelka-varscan-mutect	TF,missense_variant,p.Arg663Thr,ENST00000402696,NM_001063.3;TF,3_prime_UTR_variant,,ENST00000461695,;TF,non_coding_transcript_exon_variant,,ENST00000467842,;	C	ENST00000402696	Transcript	missense_variant	2473/2968	1988/2097	663/698	R/T	aGa/aCa	COSM728341	1		1	TF	HGNC	HGNC:11740	protein_coding	YES	CCDS3080.1	ENSP00000385834	P02787		UPI000013D5A6	NM_001063.3	tolerated(0.15)		16/17		Gene3D:3.40.190.10,Pfam_domain:PF00405,PIRSF_domain:PIRSF002549,PIRSF_domain:PIRSF500682,PROSITE_profiles:PS51408,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF31,SMART_domains:SM00094,Superfamily_domains:SSF53850											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	99	133777164	133777164	G	C	1	0	0	0	0	1	0	0	0	16218	942	33	4		4	TF	3	133777164	Missense_Mutation	SNP	G	C3N-02423_TP	3385951	133777164	64518395	106	31025											
HPS3	0	.	GRCh38	chr3	149160259	149160259	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttgacatgcacagaaatGaaatgaaaagccattcagag	18	8	8	7	0	2	5	1	3	1	2	2	5	2	5	1	0	2	1	1	0	4	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2086G>C	p.Glu696Gln	p.E696Q	ENST00000296051	11/17	248	234	14	243	243	0	strelka-varscan-mutect	HPS3,missense_variant,p.Glu696Gln,ENST00000296051,NM_032383.3;HPS3,missense_variant,p.Glu531Gln,ENST00000460120,NM_001308258.1;CP,downstream_gene_variant,,ENST00000479771,;HPS3,missense_variant,p.Glu72Gln,ENST00000460822,;CP,downstream_gene_variant,,ENST00000481169,;	C	ENST00000296051	Transcript	missense_variant	2226/4665	2086/3015	696/1004	E/Q	Gaa/Caa		1		1	HPS3	HGNC	HGNC:15597	protein_coding	YES	CCDS3140.1	ENSP00000296051	Q969F9		UPI000000D989	NM_032383.3	tolerated(0.21)		11/17		hmmpanther:PTHR28633,hmmpanther:PTHR28633:SF1,PIRSF_domain:PIRSF037473,Pfam_domain:PF14763																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	149160259	149160259	G	C	1	0	0	0	0	1	0	0	0	7235	1291	45	4		4	HPS3	3	149160259	Missense_Mutation	SNP	G	C3N-02423_TP	15383095	149160259	49135300	107	31026											
CLRN1	0	.	GRCh38	chr3	150941634	150941634	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaccatgcagagtttcaaaAggttttccaaaagcattgta	14	11	9	7	0	1	1	1	0	0	1	2	2	2	2	2	2	2	5	2	2	5	5	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.381T>A	p.=	p.P127P	ENST00000328863	2/4	427	355	72	421	421	0	strelka-varscan-mutect	CLRN1,synonymous_variant,p.=,ENST00000327047,NM_174878.2;CLRN1,synonymous_variant,p.=,ENST00000295911,NM_052995.2;CLRN1,synonymous_variant,p.=,ENST00000328863,NM_001195794.1;CLRN1,synonymous_variant,p.=,ENST00000468836,;CLRN1,synonymous_variant,p.=,ENST00000485607,;CLRN1-AS1,intron_variant,,ENST00000476886,;RP11-166N6.2,intron_variant,,ENST00000469268,;RP11-166N6.3,synonymous_variant,p.=,ENST00000569170,;RP11-166N6.3,synonymous_variant,p.=,ENST00000562308,;RP11-166N6.3,synonymous_variant,p.=,ENST00000565169,;CLRN1,non_coding_transcript_exon_variant,,ENST00000472224,;	T	ENST00000328863	Transcript	synonymous_variant	381/738	381/738	127/245	P	ccT/ccA		1		-1	CLRN1	HGNC	HGNC:12605	protein_coding	YES	CCDS56285.1	ENSP00000329158	P58418		UPI0001E43709	NM_001195794.1			2/4		hmmpanther:PTHR31548:SF4,hmmpanther:PTHR31548,PD525711																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	150941634	150941634	A	T	1	0	0	0	0	0	0	0	1	3329	59	3	4		4	CLRN1	3	150941634	Silent	SNP	A	C3N-02423_TP	1781375	150941634	47353925	108	31027											
IGSF10	0	.	GRCh38	chr3	151448488	151448488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtggggtctccttggcctGggcagttcaggccaacggtt	4	10	17	10	1	2	0	1	0	1	0	3	0	2	0	3	7	1	3	3	7	1	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1493C>A	p.Pro498Gln	p.P498Q	ENST00000282466	4/6	202	175	27	192	192	0	strelka-varscan-mutect	IGSF10,missense_variant,p.Pro498Gln,ENST00000282466,NM_178822.4;	T	ENST00000282466	Transcript	missense_variant	1493/11067	1493/7872	498/2623	P/Q	cCa/cAa		1		-1	IGSF10	HGNC	HGNC:26384	protein_coding	YES	CCDS3160.1	ENSP00000282466	Q6WRI0		UPI00001D629A	NM_178822.4	tolerated(0.62)		4/6		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	151448488	151448488	G	T	1	0	0	0	0	1	0	0	0	7504	1348	47	2		2	IGSF10	3	151448488	Missense_Mutation	SNP	G	C3N-02423_TP	506854	151448488	46847071	109	31028											
DHX36	0	.	GRCh38	chr3	154315281	154315281	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaacttcagtaccgtatCtgttttgacaaaataagaaa	17	12	6	6	1	2	3	1	1	1	2	2	3	2	3	1	0	2	3	1	0	8	7	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.369-1G>T		p.X123_splice	ENST00000496811		87	74	13	106	106	0	strelka-varscan-mutect	DHX36,splice_acceptor_variant,,ENST00000496811,NM_020865.2;DHX36,splice_acceptor_variant,,ENST00000308361,;DHX36,splice_acceptor_variant,,ENST00000329463,NM_001114397.1;DHX36,splice_acceptor_variant,,ENST00000481941,;DHX36,splice_acceptor_variant,,ENST00000491011,;DHX36,upstream_gene_variant,,ENST00000462464,;	A	ENST00000496811	Transcript	splice_acceptor_variant	-/6733	369/3027	123/1008				1		-1	DHX36	HGNC	HGNC:14410	protein_coding	YES	CCDS3171.1	ENSP00000417078	Q9H2U1		UPI000013ED25	NM_020865.2				2/24																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	99	154315281	154315281	C	A	1	0	0	0	0	0	0	1	0	4313	927	32	2		2	DHX36	3	154315281	Splice_Site	SNP	C	C3N-02423_TP	2866793	154315281	43980278	110	31029											
PLD1	0	.	GRCh38	chr3	171674580	171674580	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agactttggaagcagaaaagGataagaaagggaccgatatt	18	7	12	4	1	0	3	0	0	0	3	0	7	0	6	1	3	1	1	1	3	6	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2149C>G	p.Pro717Ala	p.P717A	ENST00000351298	19/27	224	204	20	219	219	0	strelka-varscan-mutect	PLD1,missense_variant,p.Pro679Ala,ENST00000356327,NM_001130081.2;PLD1,missense_variant,p.Pro717Ala,ENST00000351298,NM_002662.4;PLD1,upstream_gene_variant,,ENST00000446289,;PLD1,non_coding_transcript_exon_variant,,ENST00000471075,;	C	ENST00000351298	Transcript	missense_variant	2276/5604	2149/3225	717/1074	P/A	Cct/Gct		1		-1	PLD1	HGNC	HGNC:9067	protein_coding	YES	CCDS3216.1	ENSP00000342793	Q13393		UPI0000131BDC	NM_002662.4	deleterious(0.01)		19/27		hmmpanther:PTHR18896,hmmpanther:PTHR18896:SF57,PIRSF_domain:PIRSF009376,Gene3D:3.30.870.10,Superfamily_domains:SSF56024																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	171674580	171674580	G	C	1	0	0	0	0	1	0	0	0	12139	1174	41	4		4	PLD1	3	171674580	Missense_Mutation	SNP	G	C3N-02423_TP	17359299	171674580	26620979	111	31030											
PIK3CA	0	.	GRCh38	chr3	179218303	179218303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		C3N-02423_TP	C3N-02423_NB	G	G																c.1633G>A	p.Glu545Lys	p.E545K	ENST00000263967	10/21	136	129	7	149	149	0	varscan-mutect	PIK3CA,missense_variant,p.Glu545Lys,ENST00000263967,NM_006218.2;PIK3CA,upstream_gene_variant,,ENST00000462255,;	A	ENST00000263967	Transcript	missense_variant	1790/9093	1633/3207	545/1068	E/K	Gag/Aag	rs104886003,COSM125370,COSM27133,COSM295672,COSM763	1		1	PIK3CA	HGNC	HGNC:8975	protein_coding	YES	CCDS43171.1	ENSP00000263967	P42336		UPI000013D494	NM_006218.2	deleterious(0.02)		10/21		Gene3D:1.25.40.70,Pfam_domain:PF00613,PROSITE_profiles:PS51545,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF54,SMART_domains:SM00145,Superfamily_domains:SSF48371										not_provided,pathogenic	0,1,1,1,1	21264207					MODERATE	1	SNV	2		1,1,1,1,1	1										PASS		rs104886003	.												A	3	1	99	179218303	179218303	G	A	1	0	0	0	0	1	0	0	0	12008	1291	45	3		3	PIK3CA	3	179218303	Missense_Mutation	SNP	G	C3N-02423_TP	7543723	179218303	19077256	112	31031											
MUC4	0	.	GRCh38	chr3	195780901	195780901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcctgacctgtggatgccGaggaagcgtcggtgacagga	8	7	17	9	3	0	2	0	2	0	0	1	6	0	5	3	5	2	0	3	5	1	0	rs779385534		C3N-02423_TP	C3N-02423_NB	G	G																c.10679C>T	p.Ser3560Leu	p.S3560L	ENST00000463781	2/25	598	567	31	735	734	1	varscan-mutect	MUC4,missense_variant,p.Ser3560Leu,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ser3560Leu,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ser3560Leu,ENST00000478156,;MUC4,missense_variant,p.Ser3560Leu,ENST00000466475,;MUC4,missense_variant,p.Ser3560Leu,ENST00000477756,;MUC4,missense_variant,p.Ser3560Leu,ENST00000477086,;MUC4,missense_variant,p.Ser3560Leu,ENST00000480843,;MUC4,missense_variant,p.Ser3560Leu,ENST00000462323,;MUC4,missense_variant,p.Ser3560Leu,ENST00000470451,;MUC4,missense_variant,p.Ser3560Leu,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	A	ENST00000463781	Transcript	missense_variant	11139/17110	10679/16239	3560/5412	S/L	tCg/tTg	rs779385534,COSM2944551	1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	deleterious_low_confidence(0)		2/25													0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs779385534	.												A	3	1	99	195780901	195780901	G	A	1	0	0	0	0	1	0	0	0	9977	1059	37	1		1	MUC4	3	195780901	Missense_Mutation	SNP	G	C3N-02423_TP	16562598	195780901	2514658	113	31032											
IDUA	0	.	GRCh38	chr4	1002005	1002005	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcgcagctccatctccatCctggagcaggagaaggtcgt	8	7	13	13	3	1	1	0	0	1	1	5	3	3	2	3	3	2	3	3	3	1	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.816C>A	p.=	p.I272I	ENST00000247933	7/14	162	152	10	150	150	0	strelka-varscan-mutect	IDUA,synonymous_variant,p.=,ENST00000247933,NM_000203.4;IDUA,synonymous_variant,p.=,ENST00000514224,;IDUA,synonymous_variant,p.=,ENST00000514192,;IDUA,downstream_gene_variant,,ENST00000509948,;IDUA,downstream_gene_variant,,ENST00000502910,;IDUA,downstream_gene_variant,,ENST00000504568,;IDUA,non_coding_transcript_exon_variant,,ENST00000514698,;IDUA,downstream_gene_variant,,ENST00000506561,;IDUA,upstream_gene_variant,,ENST00000502829,;IDUA,downstream_gene_variant,,ENST00000508168,;IDUA,upstream_gene_variant,,ENST00000514417,;	A	ENST00000247933	Transcript	synonymous_variant	904/2163	816/1962	272/653	I	atC/atA		1		1	IDUA	HGNC	HGNC:5391	protein_coding	YES	CCDS3343.1	ENSP00000247933	P35475		UPI00004571D0	NM_000203.4			7/14		Gene3D:3.20.20.80,Pfam_domain:PF01229,hmmpanther:PTHR12631,hmmpanther:PTHR12631:SF8,Superfamily_domains:SSF51445																	LOW	1	SNV	1			1										PASS		rs1379813895	.												A	2	1	99	1002005	1002005	C	A	1	0	0	0	0	0	0	0	1	7405	845	30	2		2	IDUA	4	1002005	Silent	SNP	C	C3N-02423_TP		1002005	189212550	114	31033											
RNF4	0	.	GRCh38	chr4	2497046	2497046	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caataaattctagacaagctCagaagcgaactcgggaagca	17	6	9	9	2	2	2	1	0	1	2	3	4	2	3	0	1	4	2	0	1	8	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.49C>G	p.Gln17Glu	p.Q17E	ENST00000511600	3/8	247	233	14	177	177	0	strelka-varscan-mutect	RNF4,missense_variant,p.Gln17Glu,ENST00000511600,;RNF4,missense_variant,p.Gln17Glu,ENST00000314289,NM_002938.4;RNF4,missense_variant,p.Gln17Glu,ENST00000541204,NM_001185010.2;RNF4,missense_variant,p.Gln17Glu,ENST00000506706,NM_001185009.2;RNF4,missense_variant,p.Gln17Glu,ENST00000511859,;RNF4,missense_variant,p.Gln17Glu,ENST00000509258,;RNF4,missense_variant,p.Gln17Glu,ENST00000502316,;RNF4,missense_variant,p.Gln17Glu,ENST00000507247,;RNF4,missense_variant,p.Gln17Glu,ENST00000504224,;RNF4,missense_variant,p.Gln17Glu,ENST00000513450,;RNF4,downstream_gene_variant,,ENST00000503659,;RNF4,non_coding_transcript_exon_variant,,ENST00000511843,;RNF4,non_coding_transcript_exon_variant,,ENST00000509388,;RNF4,non_coding_transcript_exon_variant,,ENST00000511892,;RNF4,non_coding_transcript_exon_variant,,ENST00000509206,;RNF4,non_coding_transcript_exon_variant,,ENST00000503123,;RNF4,intron_variant,,ENST00000513643,;RNF4,missense_variant,p.Gln17Glu,ENST00000513578,;RNF4,missense_variant,p.Gln17Glu,ENST00000513284,;RNF4,non_coding_transcript_exon_variant,,ENST00000507784,;	G	ENST00000511600	Transcript	missense_variant	1564/4123	49/573	17/190	Q/E	Cag/Gag		1		1	RNF4	HGNC	HGNC:10067	protein_coding	YES	CCDS47001.1	ENSP00000426503	P78317		UPI0000134379		tolerated(0.15)		3/8		hmmpanther:PTHR23041:SF60,hmmpanther:PTHR23041																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	99	2497046	2497046	C	G	1	0	0	0	0	1	0	0	0	13672	827	29	4		4	RNF4	4	2497046	Missense_Mutation	SNP	C	C3N-02423_TP	1495041	2497046	187717509	115	31034											
FAM193A	0	.	GRCh38	chr4	2690734	2690734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaacactctcagaaacaaGaccggaagcccttccacctc	13	5	6	17	1	1	2	1	0	1	2	4	3	2	3	5	1	3	0	5	1	4	1	rs770167873		C3N-02423_TP	C3N-02423_NB	G	G																c.1694G>A	p.Arg565Lys	p.R565K	ENST00000324666	13/20	174	165	9	135	135	0	strelka-varscan-mutect	FAM193A,missense_variant,p.Arg856Lys,ENST00000637812,;FAM193A,missense_variant,p.Arg565Lys,ENST00000324666,NM_001256666.1;FAM193A,missense_variant,p.Arg565Lys,ENST00000382839,NM_003704.3;FAM193A,missense_variant,p.Arg565Lys,ENST00000505311,NM_001256668.1;FAM193A,missense_variant,p.Arg587Lys,ENST00000502458,NM_001256667.1;FAM193A,missense_variant,p.Arg565Lys,ENST00000545951,;FAM193A,missense_variant,p.Arg419Lys,ENST00000513350,;FAM193A,missense_variant,p.Arg565Lys,ENST00000512465,;FAM193A,missense_variant,p.Arg565Lys,ENST00000513898,;	A	ENST00000324666	Transcript	missense_variant	2045/4846	1694/3798	565/1265	R/K	aGa/aAa	rs770167873	1		1	FAM193A	HGNC	HGNC:16822	protein_coding	YES	CCDS58875.1	ENSP00000324587	P78312		UPI0000551BCA	NM_001256666.1	tolerated(0.13)		13/20		hmmpanther:PTHR15109:SF2,hmmpanther:PTHR15109																	MODERATE	1	SNV	1			1										PASS		rs770167873	.												A	3	1	99	2690734	2690734	G	A	1	0	0	0	0	1	0	0	0	5371	942	33	3		3	FAM193A	4	2690734	Missense_Mutation	SNP	G	C3N-02423_TP	193688	2690734	187523821	116	31035											
ZBTB49	0	.	GRCh38	chr4	4320791	4320791	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgcaaagctggtgacgaGagcccagatgtgctggagga	11	6	15	9	1	0	3	0	1	0	2	0	6	0	5	1	3	4	3	1	3	1	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1773G>C	p.Glu591Asp	p.E591D	ENST00000337872	8/8	335	308	27	324	324	0	strelka-varscan-mutect	ZBTB49,missense_variant,p.Glu591Asp,ENST00000337872,NM_145291.3;ZBTB49,downstream_gene_variant,,ENST00000504302,;RP11-265O12.1,upstream_gene_variant,,ENST00000509015,;ZBTB49,3_prime_UTR_variant,,ENST00000503703,;ZBTB49,3_prime_UTR_variant,,ENST00000515012,;ZBTB49,downstream_gene_variant,,ENST00000511458,;	C	ENST00000337872	Transcript	missense_variant	1894/2889	1773/2298	591/765	E/D	gaG/gaC		1		1	ZBTB49	HGNC	HGNC:19883	protein_coding	YES	CCDS3375.1	ENSP00000338807	Q6ZSB9		UPI000022C559	NM_145291.3	tolerated(0.39)		8/8		hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF237																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	4320791	4320791	G	C	1	0	0	0	0	1	0	0	0	18120	933	33	4		4	ZBTB49	4	4320791	Missense_Mutation	SNP	G	C3N-02423_TP	1630057	4320791	185893764	117	31036											
ACOX3	0	.	GRCh38	chr4	8394692	8394692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggaagagcgacttggaGaaatggtctaaggcgtagac	13	7	14	7	2	1	3	0	0	1	3	2	6	2	4	1	4	1	1	1	4	4	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1107C>T	p.=	p.F369F	ENST00000356406	10/18	184	168	16	173	173	0	strelka-varscan-mutect	ACOX3,synonymous_variant,p.=,ENST00000356406,NM_003501.2;ACOX3,synonymous_variant,p.=,ENST00000413009,NM_001101667.1;ACOX3,synonymous_variant,p.=,ENST00000503233,;RNA5SP152,downstream_gene_variant,,ENST00000365184,;ACOX3,non_coding_transcript_exon_variant,,ENST00000508302,;ACOX3,non_coding_transcript_exon_variant,,ENST00000510365,;	A	ENST00000356406	Transcript	synonymous_variant	1185/2860	1107/2103	369/700	F	ttC/ttT		1		-1	ACOX3	HGNC	HGNC:121	protein_coding	YES	CCDS3401.1	ENSP00000348775	O15254		UPI000013EEE2	NM_003501.2			10/18		hmmpanther:PTHR10909:SF315,hmmpanther:PTHR10909,PIRSF_domain:PIRSF000168,Gene3D:1.20.140.10,Superfamily_domains:SSF47203																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	8394692	8394692	G	A	1	0	0	0	0	0	0	0	1	202	933	33	3		3	ACOX3	4	8394692	Silent	SNP	G	C3N-02423_TP	4073901	8394692	181819863	118	31037											
CPEB2	0	.	GRCh38	chr4	15002685	15002685	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgataaatgagggatttCgggtttggggtgctgcagac	8	11	16	6	1	0	3	0	2	0	1	1	4	0	4	1	4	2	3	1	4	2	3			C3N-02423_TP	C3N-02423_NB	C	C																c.12C>T	p.=	p.F4F	ENST00000538197	1/12	67	61	6	69	69	0	strelka-varscan-mutect	CPEB2,synonymous_variant,p.=,ENST00000538197,NM_001177382.1;CPEB2,synonymous_variant,p.=,ENST00000442003,NM_001177383.1,NM_001177381.1;CPEB2,upstream_gene_variant,,ENST00000259997,;CPEB2,upstream_gene_variant,,ENST00000382395,;CPEB2,upstream_gene_variant,,ENST00000382401,NM_001177384.1;CPEB2,upstream_gene_variant,,ENST00000507071,NM_182485.2;CPEB2,upstream_gene_variant,,ENST00000345451,NM_182646.2;CPEB2-AS1,upstream_gene_variant,,ENST00000500394,;RP11-665G4.1,downstream_gene_variant,,ENST00000502344,;RP11-665G4.1,downstream_gene_variant,,ENST00000513384,;CPEB2,upstream_gene_variant,,ENST00000503926,;	T	ENST00000538197	Transcript	synonymous_variant	12/6878	12/3105	4/1034	F	ttC/ttT	COSM4437221	1		1	CPEB2	HGNC	HGNC:21745	protein_coding	YES	CCDS56325.1	ENSP00000443985	Q7Z5Q1		UPI0001D0434B	NM_001177382.1			1/12													1						LOW		SNV	5		1	1										PASS		.	.												T	2	4	99	15002685	15002685	C	T	1	0	0	0	0	0	0	0	1	3595	883	31	1		1	CPEB2	4	15002685	Silent	SNP	C	C3N-02423_TP	6607993	15002685	175211870	119	31038											
PCDH7	0	.	GRCh38	chr4	30721560	30721560	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggagggccccgccgacgtCcgcatcggcaacgtggcttc	6	5	15	15	6	0	0	0	0	0	0	3	3	1	1	4	4	1	3	4	4	1	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.138C>A	p.=	p.V46V	ENST00000543491	1/1	118	102	16	158	158	0	strelka-varscan	PCDH7,synonymous_variant,p.=,ENST00000361762,NM_002589.2;PCDH7,synonymous_variant,p.=,ENST00000543491,NM_032456.2;PCDH7,upstream_gene_variant,,ENST00000511884,NM_032457.3,NM_001173523.1;PCDH7,upstream_gene_variant,,ENST00000621961,;PCDH7,upstream_gene_variant,,ENST00000509759,;PCDH7,upstream_gene_variant,,ENST00000507864,;	A	ENST00000543491	Transcript	synonymous_variant	708/4457	138/3219	46/1072	V	gtC/gtA		1		1	PCDH7	HGNC	HGNC:8659	protein_coding	YES	CCDS75116.1	ENSP00000441802	O60245		UPI00001615DB	NM_032456.2			1/1		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF321,Gene3D:2.60.40.60,Pfam_domain:PF08266,Superfamily_domains:SSF49313																	LOW	1	SNV				1										PASS		.	.												A	2	1	99	30721560	30721560	C	A	1	0	0	0	0	0	0	0	1	11603	842	30	2		2	PCDH7	4	30721560	Silent	SNP	C	C3N-02423_TP	15718875	30721560	159492995	120	31039											
TLR10	0	.	GRCh38	chr4	38774319	38774319	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtatgacagattcatattGaccacagtttctggccatga	11	14	8	8	0	2	4	1	3	1	1	2	4	2	4	2	1	0	2	2	1	2	6	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1272C>T	p.=	p.V424V	ENST00000308973	4/4	127	118	9	134	134	0	strelka-varscan	TLR10,synonymous_variant,p.=,ENST00000308973,NM_030956.3;TLR10,synonymous_variant,p.=,ENST00000613579,NM_001195108.1,NM_001195106.1;TLR10,synonymous_variant,p.=,ENST00000622002,NM_001195107.1;TLR10,synonymous_variant,p.=,ENST00000361424,NM_001017388.2;TLR10,synonymous_variant,p.=,ENST00000506111,;TLR10,synonymous_variant,p.=,ENST00000508334,;TLR10,downstream_gene_variant,,ENST00000502321,;TLR10,downstream_gene_variant,,ENST00000507953,;	A	ENST00000308973	Transcript	synonymous_variant	1878/3958	1272/2436	424/811	V	gtC/gtT		1		-1	TLR10	HGNC	HGNC:15634	protein_coding	YES	CCDS3445.1	ENSP00000308925	Q9BXR5	A0A024R9W4	UPI0000048F1C	NM_030956.3			4/4		hmmpanther:PTHR24365:SF131,hmmpanther:PTHR24365,PIRSF_domain:PIRSF037595,Gene3D:3.80.10.10,Superfamily_domains:SSF52058																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	99	38774319	38774319	G	A	1	0	0	0	0	0	0	0	1	16396	1277	45	3		3	TLR10	4	38774319	Silent	SNP	G	C3N-02423_TP	8052759	38774319	151440236	121	31040											
PHOX2B	0	.	GRCh38	chr4	41747358	41747358	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgcgtacctggactcgCgcctctgtgaggtcgatctt	4	10	14	13	6	2	1	0	1	2	0	4	3	2	2	2	3	1	1	2	3	1	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.420G>A	p.=	p.A140A	ENST00000226382	2/3	336	311	25	307	307	0	strelka-varscan	PHOX2B,synonymous_variant,p.=,ENST00000226382,NM_003924.3;RP11-227F19.2,upstream_gene_variant,,ENST00000510602,;RP11-227F19.1,upstream_gene_variant,,ENST00000508038,;PHOX2B,non_coding_transcript_exon_variant,,ENST00000510424,;	T	ENST00000226382	Transcript	synonymous_variant	780/3030	420/945	140/314	A	gcG/gcA		1		-1	PHOX2B	HGNC	HGNC:9143	protein_coding	YES	CCDS3463.1	ENSP00000226382	Q99453		UPI000000D936	NM_003924.3			2/3		PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF301,PROSITE_patterns:PS00027,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	41747358	41747358	C	T	1	0	0	0	0	0	0	0	1	11947	755	27	1		1	PHOX2B	4	41747358	Silent	SNP	C	C3N-02423_TP	2973039	41747358	148467197	122	31041											
ATP8A1	0	.	GRCh38	chr4	42443569	42443569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tattagcgcacattacctctCctgacatatcaggggccatc	10	11	7	13	1	2	1	1	1	1	0	4	1	2	1	3	2	2	1	3	2	4	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.3119G>T	p.Gly1040Val	p.G1040V	ENST00000381668	33/37	160	132	28	154	154	0	strelka-varscan	ATP8A1,missense_variant,p.Gly1040Val,ENST00000381668,NM_006095.2;ATP8A1,missense_variant,p.Gly1025Val,ENST00000264449,NM_001105529.1;ATP8A1,3_prime_UTR_variant,,ENST00000514372,;ATP8A1,3_prime_UTR_variant,,ENST00000506602,;	A	ENST00000381668	Transcript	missense_variant	3351/8270	3119/3495	1040/1164	G/V	gGa/gTa		1		-1	ATP8A1	HGNC	HGNC:13531	protein_coding	YES	CCDS3466.1	ENSP00000371084	Q9Y2Q0		UPI0000125063	NM_006095.2	deleterious(0)		33/37		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF56,Pfam_domain:PF16212,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	42443569	42443569	C	A	1	0	0	0	0	1	0	0	0	1345	869	30	2		2	ATP8A1	4	42443569	Missense_Mutation	SNP	C	C3N-02423_TP	696211	42443569	147770986	123	31042											
TXK	0	.	GRCh38	chr4	48067693	48067693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcggcaaatgtagggcGgccttcaggtttctggaaaa	10	9	13	9	2	2	0	1	0	1	0	3	1	2	1	1	5	1	4	1	5	4	3	rs746410519		C3N-02423_TP	C3N-02423_NB	G	G																c.1528C>T	p.Arg510Cys	p.R510C	ENST00000264316	15/15	331	284	47	281	281	0	strelka-varscan	TXK,missense_variant,p.Arg510Cys,ENST00000264316,NM_003328.2;TXK,missense_variant,p.Arg165Cys,ENST00000507351,;TXK,3_prime_UTR_variant,,ENST00000514937,;TXK,3_prime_UTR_variant,,ENST00000509681,;	A	ENST00000264316	Transcript	missense_variant	1614/2914	1528/1584	510/527	R/C	Cgc/Tgc	rs746410519	1		-1	TXK	HGNC	HGNC:12434	protein_coding	YES	CCDS3480.1	ENSP00000264316	P42681		UPI000013D4F9	NM_003328.2	deleterious(0)		15/15		Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF247,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	48067693	48067693	G	A	1	0	0	0	0	1	0	0	0	17302	1116	39	1		1	TXK	4	48067693	Missense_Mutation	SNP	G	C3N-02423_TP	5624124	48067693	142146862	124	31043											
CEP135	0	.	GRCh38	chr4	56011467	56011467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagaagaaatgaagagcaGagttcataaatacataacag	23	6	8	4	0	1	5	1	1	0	4	1	5	1	5	0	0	3	2	0	0	9	4			C3N-02423_TP	C3N-02423_NB	G	G																c.2561G>A	p.Arg854Lys	p.R854K	ENST00000257287	20/26	298	242	56	318	317	1	strelka-varscan	CEP135,missense_variant,p.Arg854Lys,ENST00000257287,NM_025009.4;CEP135,non_coding_transcript_exon_variant,,ENST00000506202,;	A	ENST00000257287	Transcript	missense_variant	2685/5562	2561/3423	854/1140	R/K	aGa/aAa	COSM1671037	1		1	CEP135	HGNC	HGNC:29086	protein_coding	YES	CCDS33986.1	ENSP00000257287	Q66GS9		UPI00003CE420	NM_025009.4	tolerated(0.75)		20/26		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF18											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	99	56011467	56011467	G	A	1	0	0	0	0	1	0	0	0	2960	942	33	3		3	CEP135	4	56011467	Missense_Mutation	SNP	G	C3N-02423_TP	7943774	56011467	134203088	125	31044											
SMR3A	0	.	GRCh38	chr4	70366752	70366752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatttgttccaccaccccatCctccaccctatggtccaggg	7	10	7	17	0	0	0	0	0	0	0	4	1	4	0	8	2	0	1	8	2	1	3	rs867137640		C3N-02423_TP	C3N-02423_NB	C	C																c.163C>G	p.Pro55Ala	p.P55A	ENST00000226460	3/3	288	241	47	317	317	0	strelka-varscan	SMR3A,missense_variant,p.Pro55Ala,ENST00000226460,NM_012390.3;SMR3B,upstream_gene_variant,,ENST00000504825,;	G	ENST00000226460	Transcript	missense_variant	259/665	163/405	55/134	P/A	Cct/Gct	rs867137640	1		1	SMR3A	HGNC	HGNC:19216	protein_coding	YES	CCDS34000.1	ENSP00000226460	Q99954		UPI000013C8A0	NM_012390.3	tolerated_low_confidence(0.23)		3/3		Pfam_domain:PF15621,Prints_domain:PR01217,hmmpanther:PTHR14179,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	70366752	70366752	C	G	1	0	0	0	0	1	0	0	0	15132	855	30	4		4	SMR3A	4	70366752	Missense_Mutation	SNP	C	C3N-02423_TP	14355285	70366752	119847803	126	31045											
PRDM8	0	.	GRCh38	chr4	80202279	80202279	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagctggaaaactcccggGgaggcagcagctgctcccca	9	4	15	13	1	0	0	0	0	0	0	2	3	2	3	3	5	5	5	3	5	2	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.817G>T	p.Gly273Ter	p.G273*	ENST00000339711	10/10	362	306	56	369	369	0	strelka-varscan	PRDM8,stop_gained,p.Gly273Ter,ENST00000339711,NM_020226.3;PRDM8,stop_gained,p.Gly273Ter,ENST00000504452,;PRDM8,stop_gained,p.Gly273Ter,ENST00000415738,NM_001099403.1;PRDM8,stop_gained,p.Gly273Ter,ENST00000515013,;	T	ENST00000339711	Transcript	stop_gained	2048/4095	817/2070	273/689	G/*	Gga/Tga		1		1	PRDM8	HGNC	HGNC:13993	protein_coding	YES	CCDS43243.1	ENSP00000339764	Q9NQV8	A0A024RDC4	UPI0000422A1D	NM_020226.3			10/10		Low_complexity_(Seg):seg																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	99	80202279	80202279	G	T	1	0	0	0	0	0	1	0	0	12594	1233	43	2		2	PRDM8	4	80202279	Nonsense_Mutation	SNP	G	C3N-02423_TP	9835527	80202279	110012276	127	31046											
GRID2	0	.	GRCh38	chr4	93455803	93455803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatatgtttgcctgtcttGcaccatttgatctctctcta	6	18	7	10	0	3	1	0	1	3	0	5	2	3	2	2	1	2	2	2	1	2	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1687G>T	p.Ala563Ser	p.A563S	ENST00000282020	11/16	479	414	65	529	529	0	strelka-varscan	GRID2,missense_variant,p.Ala563Ser,ENST00000282020,NM_001510.3;GRID2,missense_variant,p.Ala482Ser,ENST00000611049,;GRID2,missense_variant,p.Ala468Ser,ENST00000510992,NM_001286838.1;	T	ENST00000282020	Transcript	missense_variant	2722/6117	1687/3024	563/1007	A/S	Gca/Tca		1		1	GRID2	HGNC	HGNC:4576	protein_coding	YES	CCDS3637.1	ENSP00000282020	O43424		UPI00001AEA78	NM_001510.3	deleterious(0.01)		11/16		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF109,Gene3D:3.40.190.10,SMART_domains:SM00079																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	93455803	93455803	G	T	1	0	0	0	0	1	0	0	0	6652	1319	46	2		2	GRID2	4	93455803	Missense_Mutation	SNP	G	C3N-02423_TP	13253524	93455803	96758752	128	31047											
GRID2	0	.	GRCh38	chr4	93455973	93455973	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatggatcttttgtacaacaAggtaaggagcaaaagtacat	16	11	9	5	0	1	0	0	0	1	0	1	2	1	2	0	3	4	4	0	3	8	6			C3N-02423_TP	C3N-02423_NB	A	A																c.1857A>T	p.Gln619His	p.Q619H	ENST00000282020	11/16	124	109	15	144	143	1	strelka-varscan	GRID2,missense_variant,p.Gln619His,ENST00000282020,NM_001510.3;GRID2,missense_variant,p.Gln538His,ENST00000611049,;GRID2,missense_variant,p.Gln524His,ENST00000510992,NM_001286838.1;	T	ENST00000282020	Transcript	missense_variant,splice_region_variant	2892/6117	1857/3024	619/1007	Q/H	caA/caT	COSM1253697	1		1	GRID2	HGNC	HGNC:4576	protein_coding	YES	CCDS3637.1	ENSP00000282020	O43424		UPI00001AEA78	NM_001510.3	deleterious(0)		11/16		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF109,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	99	93455973	93455973	A	T	1	0	0	0	0	1	0	0	0	6652	86	3	4		4	GRID2	4	93455973	Missense_Mutation	SNP	A	C3N-02423_TP	170	93455973	96758582	129	31048											
BANK1	0	.	GRCh38	chr4	101829994	101829994	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtaaacttttgatattatCaaatagcctgcttagagacc	14	14	6	7	0	1	2	1	1	0	1	1	3	1	2	2	0	3	2	2	0	7	7	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.257C>G	p.Ser86Ter	p.S86*	ENST00000322953	2/17	142	129	13	152	152	0	strelka-varscan	BANK1,stop_gained,p.Ser71Ter,ENST00000504592,;BANK1,stop_gained,p.Ser86Ter,ENST00000322953,NM_017935.4;BANK1,stop_gained,p.Ser56Ter,ENST00000444316,NM_001083907.2;BANK1,intron_variant,,ENST00000428908,NM_001127507.2;BANK1,intron_variant,,ENST00000508653,;	G	ENST00000322953	Transcript	stop_gained	531/3372	257/2358	86/785	S/*	tCa/tGa		1		1	BANK1	HGNC	HGNC:18233	protein_coding	YES	CCDS34038.1	ENSP00000320509	Q8NDB2		UPI0000D6159D	NM_017935.4			2/17		Low_complexity_(Seg):seg,hmmpanther:PTHR16267,hmmpanther:PTHR16267:SF13																	HIGH	1	SNV	1			1										PASS		.	.												G	4	3	99	101829994	101829994	C	G	1	0	0	0	0	0	1	0	0	1461	838	29	4		4	BANK1	4	101829994	Nonsense_Mutation	SNP	C	C3N-02423_TP	8374021	101829994	88384561	130	31049											
SPATA5	0	.	GRCh38	chr4	122934126	122934126	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttttaccaggcaactttCtgtattgtacattctatgga	9	18	7	7	0	2	0	0	0	2	0	2	1	2	1	1	2	3	4	1	2	5	9	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.535C>T	p.=	p.L179L	ENST00000274008	5/16	70	60	10	90	90	0	strelka-varscan	SPATA5,synonymous_variant,p.=,ENST00000274008,NM_145207.2;SPATA5,non_coding_transcript_exon_variant,,ENST00000422835,;	T	ENST00000274008	Transcript	synonymous_variant	604/8137	535/2682	179/893	L	Ctg/Ttg		1		1	SPATA5	HGNC	HGNC:18119	protein_coding	YES	CCDS3730.1	ENSP00000274008	Q8NB90		UPI000013D9E6	NM_145207.2			5/16		hmmpanther:PTHR23077:SF27,hmmpanther:PTHR23077																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	122934126	122934126	C	T	1	0	0	0	0	0	0	0	1	15355	912	32	3		3	SPATA5	4	122934126	Silent	SNP	C	C3N-02423_TP	21104132	122934126	67280429	131	31050											
FAT4	0	.	GRCh38	chr4	125477330	125477330	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcagcacaaggcatcctaGatcagtatggcgattttatt	11	12	10	8	1	1	1	1	0	0	1	2	2	2	1	1	3	1	4	1	3	4	5	rs141297199		C3N-02423_TP	C3N-02423_NB	G	G																c.12469G>C	p.Asp4157His	p.D4157H	ENST00000394329	13/17	156	142	14	122	122	0	strelka-varscan	FAT4,missense_variant,p.Asp4157His,ENST00000394329,NM_001291285.1,NM_001291303.1,NM_024582.4;FAT4,missense_variant,p.Asp2420His,ENST00000335110,;	C	ENST00000394329	Transcript	missense_variant	12482/16123	12469/14946	4157/4981	D/H	Gat/Cat	rs141297199	1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_001291285.1,NM_001291303.1,NM_024582.4	deleterious(0.02)		13/17		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF43,SMART_domains:SM00179,Superfamily_domains:SSF49899																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	99	125477330	125477330	G	C	1	0	0	0	0	1	0	0	0	5552	956	33	4		4	FAT4	4	125477330	Missense_Mutation	SNP	G	C3N-02423_TP	2543204	125477330	64737225	132	31051											
IL15	0	.	GRCh38	chr4	141729907	141729907	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacaagttatttcacttGagtccggagatgcaagtatt	12	14	9	6	1	1	2	1	1	0	1	2	3	2	2	1	1	2	4	1	1	5	6	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.301G>T	p.Glu101Ter	p.E101*	ENST00000296545	7/8	199	177	22	216	216	0	strelka-varscan	IL15,stop_gained,p.Glu74Ter,ENST00000477265,;IL15,stop_gained,p.Glu101Ter,ENST00000296545,;IL15,stop_gained,p.Glu74Ter,ENST00000394159,;IL15,stop_gained,p.Glu101Ter,ENST00000320650,NM_000585.4;IL15,stop_gained,p.Glu74Ter,ENST00000514653,NM_172175.2;IL15,stop_gained,p.Glu101Ter,ENST00000529613,;IL15,downstream_gene_variant,,ENST00000509249,;	T	ENST00000296545	Transcript	stop_gained	1145/2472	301/489	101/162	E/*	Gag/Tag		1		1	IL15	HGNC	HGNC:5977	protein_coding	YES	CCDS3755.1	ENSP00000296545	P40933		UPI0000031AC7				7/8		Pfam_domain:PF02372,Prints_domain:PR01930,hmmpanther:PTHR11323,hmmpanther:PTHR11323:SF0,Superfamily_domains:SSF47266																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	99	141729907	141729907	G	T	1	0	0	0	0	0	1	0	0	7539	1291	45	2		2	IL15	4	141729907	Nonsense_Mutation	SNP	G	C3N-02423_TP	16252577	141729907	48484648	133	31052											
PLRG1	0	.	GRCh38	chr4	154537297	154537297	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agaacttacggctgtgtcatCctctctgtatactttaatgg	9	15	8	9	1	2	1	1	0	1	1	4	1	3	1	1	2	3	2	1	2	5	5	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1474G>C	p.Asp492His	p.D492H	ENST00000499023	14/15	92	85	7	104	102	2	strelka-varscan	PLRG1,missense_variant,p.Asp492His,ENST00000499023,NM_002669.3;PLRG1,missense_variant,p.Asp483His,ENST00000302078,NM_001201564.1;PLRG1,intron_variant,,ENST00000503251,;PLRG1,downstream_gene_variant,,ENST00000504341,;PLRG1,3_prime_UTR_variant,,ENST00000506627,;PLRG1,non_coding_transcript_exon_variant,,ENST00000512773,;PLRG1,downstream_gene_variant,,ENST00000506192,;PLRG1,downstream_gene_variant,,ENST00000506918,;PLRG1,downstream_gene_variant,,ENST00000507125,;	G	ENST00000499023	Transcript	missense_variant	1601/3351	1474/1545	492/514	D/H	Gat/Cat		1		-1	PLRG1	HGNC	HGNC:9089	protein_coding	YES	CCDS34083.1	ENSP00000424417	O43660		UPI0000070B39	NM_002669.3	deleterious(0)		14/15		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR19923,hmmpanther:PTHR19923:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	154537297	154537297	C	G	1	0	0	0	0	1	0	0	0	12214	855	30	4		4	PLRG1	4	154537297	Missense_Mutation	SNP	C	C3N-02423_TP	12807390	154537297	35677258	134	31053											
FNIP2	0	.	GRCh38	chr4	158769282	158769282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctccgcggcggcgtctGcccagggcagggctcctaag	5	5	16	15	4	1	0	0	0	1	0	3	0	3	0	3	4	2	4	3	4	1	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.70G>T	p.Ala24Ser	p.A24S	ENST00000264433	1/17	158	135	23	141	141	0	strelka-varscan	FNIP2,missense_variant,p.Ala24Ser,ENST00000264433,NM_001323916.1,NM_020840.1;FNIP2,non_coding_transcript_exon_variant,,ENST00000504704,;	T	ENST00000264433	Transcript	missense_variant	145/6925	70/3345	24/1114	A/S	Gcc/Tcc		1		1	FNIP2	HGNC	HGNC:29280	protein_coding	YES	CCDS47155.1	ENSP00000264433	Q9P278		UPI00001C1E0A	NM_001323916.1,NM_020840.1	tolerated(0.73)		1/17		hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF11,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	158769282	158769282	G	T	1	0	0	0	0	1	0	0	0	5834	1319	46	2		2	FNIP2	4	158769282	Missense_Mutation	SNP	G	C3N-02423_TP	4231985	158769282	31445273	135	31054											
TLL1	0	.	GRCh38	chr4	166043359	166043359	+	Missense_Mutation	SNP	T	T	G																															tatcgcccgatgaaagaatgTgtgtggaaaataacagtgtc																								novel		C3N-02423_TP	C3N-02423_NB	T	T																c.1464T>G	p.Cys488Trp	p.C488W	ENST00000061240	12/21	442	396	46	468	468	0	strelka-varscan	TLL1,missense_variant,p.Cys488Trp,ENST00000061240,NM_012464.4;TLL1,missense_variant,p.Cys488Trp,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	G	ENST00000061240	Transcript	missense_variant	2111/6708	1464/3042	488/1013	C/W	tgT/tgG		1		1	TLL1	HGNC	HGNC:11843	protein_coding	YES	CCDS3811.1	ENSP00000061240	O43897		UPI0000072EED	NM_012464.4	deleterious(0)		12/21		Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001199,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	166043359	166043359	T	G	1	0	0	0	0	1	0	0	0	16391	1702	59	5		5	TLL1	4	166043359	Missense_Mutation	SNP	T	C3N-02423_TP	7274077	166043359	24171196	136	31055	636	2									
TLL1	0	.	GRCh38	chr4	166043363	166043363	+	Missense_Mutation	SNP	T	T	G																															gcccgatgaaagaatgtgtgTggaaaataacagtgtctgag																								novel		C3N-02423_TP	C3N-02423_NB	T	T																c.1468T>G	p.Trp490Gly	p.W490G	ENST00000061240	12/21	446	400	46	473	473	0	strelka-varscan	TLL1,missense_variant,p.Trp490Gly,ENST00000061240,NM_012464.4;TLL1,missense_variant,p.Trp490Gly,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;	G	ENST00000061240	Transcript	missense_variant	2115/6708	1468/3042	490/1013	W/G	Tgg/Ggg		1		1	TLL1	HGNC	HGNC:11843	protein_coding	YES	CCDS3811.1	ENSP00000061240	O43897		UPI0000072EED	NM_012464.4	deleterious(0)		12/21		Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001199,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF304,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	166043363	166043363	T	G	1	0	0	0	0	1	0	0	0	16391	1696	59	5		5	TLL1	4	166043363	Missense_Mutation	SNP	T	C3N-02423_TP	4	166043363	24171192	137	31056	636	2									
DDX60L	0	.	GRCh38	chr4	168391540	168391540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagagtcagagagttacCtgtctgtaatttaaagcatc	14	13	8	6	0	2	2	1	0	1	2	3	3	2	2	1	0	2	3	1	0	6	5	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.3915G>T	p.Gln1305His	p.Q1305H	ENST00000260184	29/38	143	128	15	149	148	1	strelka-varscan	DDX60L,missense_variant,p.Gln1305His,ENST00000511577,;DDX60L,missense_variant,p.Gln1305His,ENST00000260184,NM_001012967.2;DDX60L,missense_variant,p.Gln1306His,ENST00000505890,NM_001291510.1;DDX60L,missense_variant,p.Gln193His,ENST00000514580,;DDX60L,downstream_gene_variant,,ENST00000505863,;DDX60L,downstream_gene_variant,,ENST00000503190,;	A	ENST00000260184	Transcript	missense_variant,splice_region_variant	4136/6754	3915/5121	1305/1706	Q/H	caG/caT		1		-1	DDX60L	HGNC	HGNC:26429	protein_coding	YES	CCDS47161.1	ENSP00000260184	Q5H9U9		UPI0003EAE873	NM_001012967.2	deleterious(0)		29/38		PROSITE_profiles:PS51194,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	99	168391540	168391540	C	A	1	0	0	0	0	1	0	0	0	4182	695	24	2		2	DDX60L	4	168391540	Missense_Mutation	SNP	C	C3N-02423_TP	2348177	168391540	21823015	138	31057											
PALLD	0	.	GRCh38	chr4	168926374	168926374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atactgccttggtagaaagtGaggacctgtaatccagcatt	12	11	10	8	0	0	2	0	1	0	1	1	3	1	3	3	2	3	3	3	2	4	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2008G>A	p.Glu670Lys	p.E670K	ENST00000507735	12/12	187	174	13	167	167	0	strelka-varscan	PALLD,missense_variant,p.Glu670Lys,ENST00000507735,NM_001166110.1;PALLD,missense_variant,p.Glu775Lys,ENST00000512127,NM_001166109.1;PALLD,3_prime_UTR_variant,,ENST00000261509,NM_016081.3;PALLD,downstream_gene_variant,,ENST00000505667,NM_001166108.1;PALLD,downstream_gene_variant,,ENST00000503290,;CBR4,intron_variant,,ENST00000509108,;PALLD,non_coding_transcript_exon_variant,,ENST00000507699,;CBR4,intron_variant,,ENST00000510042,;	A	ENST00000507735	Transcript	missense_variant	2308/4379	2008/2019	670/672	E/K	Gag/Aag		1		1	PALLD	HGNC	HGNC:17068	protein_coding		CCDS54820.1	ENSP00000424016	Q8WX93		UPI00015B3BE3	NM_001166110.1	deleterious(0.01)		12/12		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF741																	MODERATE		SNV	1			1										PASS		.	.												A	3	1	99	168926374	168926374	G	A	1	0	0	0	0	1	0	0	0	11487	1291	45	3		3	PALLD	4	168926374	Missense_Mutation	SNP	G	C3N-02423_TP	534834	168926374	21288181	139	31058											
FAT1	0	.	GRCh38	chr4	186619106	186619106	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccacttcatattcgttctGaaggaaagcaggactgtgca	11	12	9	9	1	2	1	1	1	1	0	4	3	3	3	1	2	2	3	1	2	3	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.7480C>T	p.Gln2494Ter	p.Q2494*	ENST00000441802	10/27	219	205	14	221	221	0	strelka-varscan	FAT1,stop_gained,p.Gln2494Ter,ENST00000441802,NM_005245.3;FAT1,stop_gained,p.Gln2496Ter,ENST00000614102,;	A	ENST00000441802	Transcript	stop_gained	7690/14786	7480/13767	2494/4588	Q/*	Cag/Tag		1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3			10/27		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,Superfamily_domains:SSF49313																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	99	186619106	186619106	G	A	1	0	0	0	0	0	1	0	0	5549	1299	45	3		3	FAT1	4	186619106	Nonsense_Mutation	SNP	G	C3N-02423_TP	17692732	186619106	3595449	140	31059											
FAT1	0	.	GRCh38	chr4	186619237	186619237	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcgtgccggtgcaggtttGagagggtgataatccctgtt	6	11	17	7	2	0	2	0	2	0	1	1	3	1	2	2	4	2	3	2	4	1	3			C3N-02423_TP	C3N-02423_NB	G	G																c.7349C>G	p.Ser2450Ter	p.S2450*	ENST00000441802	10/27	208	196	12	204	204	0	strelka-varscan	FAT1,stop_gained,p.Ser2450Ter,ENST00000441802,NM_005245.3;FAT1,stop_gained,p.Ser2452Ter,ENST00000614102,;	C	ENST00000441802	Transcript	stop_gained	7559/14786	7349/13767	2450/4588	S/*	tCa/tGa	COSM733828,COSM733829	1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3			10/27		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						HIGH	1	SNV	5		1,1	1										PASS		.	.												C	4	2	99	186619237	186619237	G	C	1	0	0	0	0	0	1	0	0	5549	1294	45	4		4	FAT1	4	186619237	Nonsense_Mutation	SNP	G	C3N-02423_TP	131	186619237	3595318	141	31060											
FAT1	0	.	GRCh38	chr4	186620075	186620075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttattcatgacagtgatcgGaacgataacttccgctgaaa	13	12	8	8	3	1	3	1	3	0	0	3	5	2	4	1	1	2	1	1	1	4	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.6511C>A	p.Pro2171Thr	p.P2171T	ENST00000441802	10/27	233	219	14	235	234	1	strelka-varscan	FAT1,missense_variant,p.Pro2171Thr,ENST00000441802,NM_005245.3;FAT1,missense_variant,p.Pro2173Thr,ENST00000614102,;	T	ENST00000441802	Transcript	missense_variant	6721/14786	6511/13767	2171/4588	P/T	Ccg/Acg		1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3	tolerated(0.09)		10/27		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF42,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	99	186620075	186620075	G	T	1	0	0	0	0	1	0	0	0	5549	1174	41	2		2	FAT1	4	186620075	Missense_Mutation	SNP	G	C3N-02423_TP	838	186620075	3594480	142	31061											
ICE1	0	.	GRCh38	chr5	5443172	5443172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttctttttttaaagagttCtttaaagttgtatcaggata	11	21	6	3	0	3	1	1	0	2	1	3	2	3	2	0	1	0	3	0	1	6	12	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.314C>G	p.Ser105Cys	p.S105C	ENST00000296564	6/19	153	145	8	144	144	0	strelka-varscan-mutect	ICE1,missense_variant,p.Ser105Cys,ENST00000296564,NM_015325.2;ICE1,missense_variant,p.Ser28Cys,ENST00000512608,;	G	ENST00000296564	Transcript	missense_variant	536/7927	314/6801	105/2266	S/C	tCt/tGt		1		1	ICE1	HGNC	HGNC:29154	protein_coding	YES	CCDS47187.1	ENSP00000296564	Q9Y2F5		UPI00015542F9	NM_015325.2	deleterious(0.05)		6/19		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11852:SF4,hmmpanther:PTHR11852																	MODERATE	1	SNV	1			1										PASS		rs1166787662	.												G	3	3	99	5443172	5443172	C	G	1	0	0	0	0	1	0	0	0	7384	927	32	4		4	ICE1	5	5443172	Missense_Mutation	SNP	C	C3N-02423_TP		5443172	176095087	143	31062											
ANKRD33B	0	.	GRCh38	chr5	10564555	10564555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccaccccggggcgcgcagGtcgaggaggaccccgctgac	6	2	15	18	5	0	1	0	1	0	0	1	4	0	3	6	5	0	2	6	5	0	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.88G>T	p.Val30Phe	p.V30F	ENST00000296657	1/4	159	138	21	142	142	0	strelka-varscan-mutect	ANKRD33B,missense_variant,p.Val30Phe,ENST00000296657,NM_001164440.1;ANKRD33B,missense_variant,p.Val30Phe,ENST00000504806,;	T	ENST00000296657	Transcript	missense_variant	88/9188	88/1485	30/494	V/F	Gtc/Ttc		1		1	ANKRD33B	HGNC	HGNC:35240	protein_coding	YES	CCDS47191.1	ENSP00000296657	A6NCL7		UPI00001D7EE7	NM_001164440.1	deleterious(0.03)		1/4		hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF1																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	99	10564555	10564555	G	T	1	0	0	0	0	1	0	0	0	766	1261	44	2		2	ANKRD33B	5	10564555	Missense_Mutation	SNP	G	C3N-02423_TP	5121383	10564555	170973704	144	31063											
CTNND2	0	.	GRCh38	chr5	10973564	10973564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccggtggacttgagaccCaggtgcatggtgtactcgct	6	11	14	10	2	0	1	0	1	0	1	1	3	0	2	2	4	3	3	2	4	1	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.3567G>A	p.=	p.L1189L	ENST00000304623	22/22	191	169	22	186	186	0	strelka-varscan-mutect	CTNND2,synonymous_variant,p.=,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,synonymous_variant,p.=,ENST00000511377,NM_001288715.1;CTNND2,synonymous_variant,p.=,ENST00000503622,NM_001288716.1;CTNND2,synonymous_variant,p.=,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,downstream_gene_variant,,ENST00000506324,;CTNND2,3_prime_UTR_variant,,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;	T	ENST00000304623	Transcript	synonymous_variant	3757/5481	3567/3678	1189/1225	L	ctG/ctA		1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1			22/22		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	10973564	10973564	C	T	1	0	0	0	0	0	0	0	1	3829	581	21	3		3	CTNND2	5	10973564	Silent	SNP	C	C3N-02423_TP	409009	10973564	170564695	145	31064											
CTNND2	0	.	GRCh38	chr5	11364707	11364707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attacacacctgtgctcgtgCggtaggtgccggtgtgtgct	5	12	14	10	3	0	0	0	0	0	0	1	0	0	0	2	3	5	3	2	3	2	2	rs750266236		C3N-02423_TP	C3N-02423_NB	C	C																c.1361G>T	p.Arg454Leu	p.R454L	ENST00000304623	8/22	119	104	15	135	135	0	strelka-varscan-mutect	CTNND2,missense_variant,p.Arg454Leu,ENST00000304623,NM_001332.3,NM_001288717.1;CTNND2,missense_variant,p.Arg363Leu,ENST00000511377,NM_001288715.1;CTNND2,missense_variant,p.Arg117Leu,ENST00000503622,NM_001288716.1;CTNND2,missense_variant,p.Arg194Leu,ENST00000502551,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,non_coding_transcript_exon_variant,,ENST00000504354,;CTNND2,non_coding_transcript_exon_variant,,ENST00000506735,;CTNND2,downstream_gene_variant,,ENST00000511278,;CTNND2,missense_variant,p.Arg208Leu,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;CTNND2,non_coding_transcript_exon_variant,,ENST00000507430,;	A	ENST00000304623	Transcript	missense_variant	1551/5481	1361/3678	454/1225	R/L	cGc/cTc	rs750266236	1		-1	CTNND2	HGNC	HGNC:2516	protein_coding	YES	CCDS3881.1	ENSP00000307134	Q9UQB3		UPI000013E9AB	NM_001332.3,NM_001288717.1	tolerated(0.14)		8/22		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9																	MODERATE	1	SNV	1			1										PASS		rs750266236	.												A	3	1	99	11364707	11364707	C	A	1	0	0	0	0	1	0	0	0	3829	768	27	1		1	CTNND2	5	11364707	Missense_Mutation	SNP	C	C3N-02423_TP	391143	11364707	170173552	146	31065											
MARCH11	0	.	GRCh38	chr5	16067483	16067483	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttgtcacactgaagtCactctcatcacaacctcccc	9	12	4	16	0	4	1	4	1	1	0	6	1	5	1	3	0	2	1	3	0	2	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1197G>T	p.=	p.V399V	ENST00000332432	4/4	103	95	8	117	117	0	strelka-varscan-mutect	MARCH11,synonymous_variant,p.=,ENST00000332432,NM_001102562.1;MARCH11,3_prime_UTR_variant,,ENST00000507111,;	A	ENST00000332432	Transcript	synonymous_variant	1397/1741	1197/1209	399/402	V	gtG/gtT		1		-1	MARCH11	HGNC	HGNC:33609	protein_coding	YES	CCDS47192.1	ENSP00000333181	A6NNE9		UPI00015B3D4A	NM_001102562.1			4/4		hmmpanther:PTHR23012:SF67,hmmpanther:PTHR23012																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	99	16067483	16067483	C	A	1	0	0	0	0	0	0	0	1	9225	813	29	2		2	MARCH11	5	16067483	Silent	SNP	C	C3N-02423_TP	4702776	16067483	165470776	147	31066											
CDH12	0	.	GRCh38	chr5	21842165	21842165	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaggtgacatacttttGgggaatcgaggtggattgtc	11	11	15	4	1	0	1	0	1	0	0	2	5	0	4	0	6	1	0	0	6	3	4			C3N-02423_TP	C3N-02423_NB	G	G																c.810C>A	p.=	p.P270P	ENST00000382254	8/15	94	75	19	83	83	0	strelka-varscan-mutect	CDH12,synonymous_variant,p.=,ENST00000382254,NM_004061.3;CDH12,synonymous_variant,p.=,ENST00000504376,;CDH12,synonymous_variant,p.=,ENST00000522262,;CDH12,non_coding_transcript_exon_variant,,ENST00000521384,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;	T	ENST00000382254	Transcript	synonymous_variant	1897/4164	810/2385	270/794	P	ccC/ccA	COSM5195062,COSM737307	1		-1	CDH12	HGNC	HGNC:1751	protein_coding	YES	CCDS3890.1	ENSP00000371689	P55289		UPI00000622EB	NM_004061.3			8/15		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF96,Superfamily_domains:SSF49313											1,1						LOW	1	SNV	1		1,1	1										PASS		.	.												T	2	4	99	21842165	21842165	G	T	1	0	0	0	0	0	0	0	1	2801	1362	47	2		2	CDH12	5	21842165	Silent	SNP	G	C3N-02423_TP	5774682	21842165	159696094	148	31067											
PRDM9	0	.	GRCh38	chr5	23526464	23526464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaagagatcaaagaaaGgtccaaactcttgaataaaa	20	7	8	6	0	3	3	2	1	1	2	4	4	4	3	1	2	1	0	1	2	7	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1376G>T	p.Arg459Met	p.R459M	ENST00000296682	11/11	454	394	60	545	545	0	varscan-mutect	PRDM9,missense_variant,p.Arg459Met,ENST00000296682,NM_020227.2;PRDM9,missense_variant,p.Arg400Met,ENST00000635252,;	T	ENST00000296682	Transcript	missense_variant	1558/3691	1376/2685	459/894	R/M	aGg/aTg		1		1	PRDM9	HGNC	HGNC:13994	protein_coding	YES	CCDS43307.1	ENSP00000296682	Q9NQV7		UPI00006C9E90	NM_020227.2	tolerated(0.13)		11/11		hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF10																	MODERATE	1	SNV	1			1										PASS		rs1327487744	.												T	3	4	99	23526464	23526464	G	T	1	0	0	0	0	1	0	0	0	12595	1000	35	2		2	PRDM9	5	23526464	Missense_Mutation	SNP	G	C3N-02423_TP	1684299	23526464	158011795	149	31068											
CDH10	0	.	GRCh38	chr5	24487819	24487819	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaatcatttccttcataGgcataggttgcaagtgagtc	11	13	10	7	0	2	1	2	1	0	0	4	2	3	2	1	3	1	3	1	3	4	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2211C>A	p.=	p.A737A	ENST00000264463	12/12	277	236	41	268	268	0	strelka-varscan-mutect	CDH10,synonymous_variant,p.=,ENST00000264463,NM_006727.3;CDH10,non_coding_transcript_exon_variant,,ENST00000502921,;CDH10,3_prime_UTR_variant,,ENST00000510477,;CDH10,non_coding_transcript_exon_variant,,ENST00000503958,;	T	ENST00000264463	Transcript	synonymous_variant	2719/3438	2211/2367	737/788	A	gcC/gcA		1		-1	CDH10	HGNC	HGNC:1749	protein_coding	YES	CCDS3892.1	ENSP00000264463	Q9Y6N8	X5D8X5	UPI0000167B7B	NM_006727.3			12/12		hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027,Gene3D:4.10.900.10,Pfam_domain:PF01049																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	24487819	24487819	G	T	1	0	0	0	0	0	0	0	1	2799	987	35	2		2	CDH10	5	24487819	Silent	SNP	G	C3N-02423_TP	961355	24487819	157050440	150	31069											
ARHGEF28	0	.	GRCh38	chr5	73867924	73867924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtctctccttgcacccttCttcctccgtgcctgttggat	2	16	8	15	1	2	0	0	0	2	0	6	1	5	1	5	2	2	2	5	2	0	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.2201C>T	p.Ser734Phe	p.S734F	ENST00000545377	19/37	215	202	13	250	250	0	strelka-mutect	ARHGEF28,missense_variant,p.Ser734Phe,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Ser734Phe,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Ser734Phe,ENST00000426542,;ARHGEF28,missense_variant,p.Ser734Phe,ENST00000437974,;ARHGEF28,missense_variant,p.Ser734Phe,ENST00000296794,;ARHGEF28,missense_variant,p.Ser421Phe,ENST00000296799,NM_001244364.1;ARHGEF28,non_coding_transcript_exon_variant,,ENST00000506334,;	T	ENST00000545377	Transcript	missense_variant	2377/6351	2201/5196	734/1731	S/F	tCt/tTt		1		1	ARHGEF28	HGNC	HGNC:30322	protein_coding	YES	CCDS47231.2	ENSP00000441913	Q8N1W1		UPI00004DF58E	NM_001080479.2	deleterious(0)		19/37		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF133																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	99	73867924	73867924	C	T	1	0	0	0	0	1	0	0	0	1036	913	32	3		3	ARHGEF28	5	73867924	Missense_Mutation	SNP	C	C3N-02423_TP	49380105	73867924	107670335	151	31070											
VCAN	0	.	GRCh38	chr5	83537805	83537805	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttcagaggaagaagcagTtaccctaataggaaatcctt	14	11	9	7	0	1	2	1	0	0	2	2	4	2	4	2	2	2	3	2	2	6	5	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.4802T>A	p.Val1601Asp	p.V1601D	ENST00000265077	8/15	399	351	48	472	472	0	strelka-varscan-mutect	VCAN,missense_variant,p.Val1601Asp,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Val614Asp,ENST00000343200,NM_001164097.1;VCAN,missense_variant,p.Val614Asp,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	A	ENST00000265077	Transcript	missense_variant	5367/12625	4802/10191	1601/3396	V/D	gTt/gAt		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	tolerated(0.08)		8/15		Low_complexity_(Seg):seg,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	83537805	83537805	T	A	1	0	0	0	0	1	0	0	0	17683	1725	60	4		4	VCAN	5	83537805	Missense_Mutation	SNP	T	C3N-02423_TP	9669881	83537805	98000454	152	31071											
VCAN	0	.	GRCh38	chr5	83537852	83537852	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgacctgttgtctaccaaaGaaagctgggtagaagcaact	14	9	10	8	0	1	3	0	1	1	2	1	3	1	3	2	1	4	4	2	1	6	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.4849G>C	p.Glu1617Gln	p.E1617Q	ENST00000265077	8/15	234	194	40	319	319	0	strelka-varscan-mutect	VCAN,missense_variant,p.Glu1617Gln,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Glu630Gln,ENST00000343200,NM_001164097.1;VCAN,missense_variant,p.Glu630Gln,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,NM_001126336.2;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;	C	ENST00000265077	Transcript	missense_variant	5414/12625	4849/10191	1617/3396	E/Q	Gaa/Caa		1		1	VCAN	HGNC	HGNC:2464	protein_coding	YES	CCDS4060.1	ENSP00000265077	P13611	A0A024RAQ9	UPI000013178B	NM_004385.4	deleterious(0)		8/15		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	83537852	83537852	G	C	1	0	0	0	0	1	0	0	0	17683	943	33	4		4	VCAN	5	83537852	Missense_Mutation	SNP	G	C3N-02423_TP	47	83537852	98000407	153	31072											
SEMA6A	0	.	GRCh38	chr5	116502224	116502224	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttacctagcagcaatgtaGagggttccgttcatgatcat	10	12	9	10	1	2	2	2	1	0	1	3	2	3	2	3	1	3	5	3	1	4	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.204C>T	p.=	p.L68L	ENST00000257414	3/20	197	176	21	208	208	0	strelka-varscan-mutect	SEMA6A,synonymous_variant,p.=,ENST00000343348,NM_020796.4;SEMA6A,synonymous_variant,p.=,ENST00000257414,NM_001300780.1;SEMA6A,synonymous_variant,p.=,ENST00000510263,;SEMA6A,synonymous_variant,p.=,ENST00000515009,;SEMA6A,synonymous_variant,p.=,ENST00000509665,;SEMA6A-AS1,intron_variant,,ENST00000510682,;SEMA6A-AS1,downstream_gene_variant,,ENST00000514214,;SEMA6A,non_coding_transcript_exon_variant,,ENST00000503962,;	A	ENST00000257414	Transcript	synonymous_variant	453/4256	204/3144	68/1047	L	ctC/ctT		1		-1	SEMA6A	HGNC	HGNC:10738	protein_coding	YES	CCDS75288.1	ENSP00000257414		A0A0A0MQU6	UPI000018DB92	NM_001300780.1			3/20		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF12,SMART_domains:SM00630,Superfamily_domains:SSF101912																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	116502224	116502224	G	A	1	0	0	0	0	0	0	0	1	14315	929	33	3		3	SEMA6A	5	116502224	Silent	SNP	G	C3N-02423_TP	32964372	116502224	65036035	154	31073											
PCDHGA1	0	.	GRCh38	chr5	141331238	141331238	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctccctggatgtgcaacaggGagccgatgggcctcaacatc	9	7	12	13	1	1	0	1	0	0	0	3	3	2	2	3	3	4	1	3	3	2	0			C3N-02423_TP	C3N-02423_NB	G	G																c.554G>C	p.Gly185Ala	p.G185A	ENST00000517417	1/4	164	154	10	214	214	0	strelka-varscan-mutect	PCDHGA1,missense_variant,p.Gly185Ala,ENST00000517417,NM_018912.2;PCDHGA1,missense_variant,p.Gly185Ala,ENST00000378105,NM_031993.1;AC005618.6,downstream_gene_variant,,ENST00000606901,;AC005618.6,downstream_gene_variant,,ENST00000606674,;	C	ENST00000517417	Transcript	missense_variant	554/4604	554/2796	185/931	G/A	gGa/gCa	COSM4552276,COSM4552277	1		1	PCDHGA1	HGNC	HGNC:8696	protein_coding	YES	CCDS54922.1	ENSP00000431083	Q9Y5H4		UPI0000070596	NM_018912.2	deleterious_low_confidence(0.05)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF108,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs756137799	.												C	3	2	99	141331238	141331238	G	C	1	0	0	0	0	1	0	0	0	11637	1174	41	4		4	PCDHGA1	5	141331238	Missense_Mutation	SNP	G	C3N-02423_TP	24829014	141331238	40207021	155	31074											
PCDHGA4	0	.	GRCh38	chr5	141357425	141357425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctgcctcgcactttgtggGcgtggacggggttcgggctt	2	11	17	11	4	0	0	0	0	0	0	2	1	0	1	2	5	1	3	2	5	0	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2318G>T	p.Gly773Val	p.G773V	ENST00000571252	1/4	260	244	16	340	340	0	varscan-mutect	PCDHGA4,missense_variant,p.Gly773Val,ENST00000571252,NM_018917.3;PCDHGA4,missense_variant,p.Gly773Val,ENST00000612927,NM_032053.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB2,upstream_gene_variant,,ENST00000522605,NM_018923.2;PCDHGB1,downstream_gene_variant,,ENST00000611598,NM_032095.1;PCDHGB2,upstream_gene_variant,,ENST00000622527,NM_032096.1;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000571252	Transcript	missense_variant	2401/4778	2318/2889	773/962	G/V	gGc/gTc		1		1	PCDHGA4	HGNC	HGNC:8702	protein_coding	YES	CCDS58979.2	ENSP00000458570		A0A087WT05	UPI0003583741	NM_018917.3	deleterious_low_confidence(0)		1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF94,Pfam_domain:PF16492																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	141357425	141357425	G	T	1	0	0	0	0	1	0	0	0	11643	1203	42	2		2	PCDHGA4	5	141357425	Missense_Mutation	SNP	G	C3N-02423_TP	26187	141357425	40180834	156	31075											
SH3PXD2B	0	.	GRCh38	chr5	172394584	172394584	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacagtattcatcaattggTatcaggcgtttgacagccac	11	13	8	9	1	3	1	3	1	0	0	3	1	3	1	1	2	2	3	1	2	4	6			C3N-02423_TP	C3N-02423_NB	T	T																c.288A>G	p.Ile96Met	p.I96M	ENST00000311601	4/13	464	395	69	533	533	0	strelka-varscan-mutect	SH3PXD2B,missense_variant,p.Ile96Met,ENST00000311601,NM_001017995.2;SH3PXD2B,missense_variant,p.Ile82Met,ENST00000636523,;SH3PXD2B,missense_variant,p.Ile96Met,ENST00000519643,NM_001308175.1;	C	ENST00000311601	Transcript	missense_variant	459/7777	288/2736	96/911	I/M	atA/atG	COSM1132207	1		-1	SH3PXD2B	HGNC	HGNC:29242	protein_coding	YES	CCDS34291.1	ENSP00000309714	A1X283		UPI000020C12E	NM_001017995.2	tolerated(0.11)		4/13		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR15706,hmmpanther:PTHR15706:SF8,SMART_domains:SM00312,Superfamily_domains:SSF64268											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	99	172394584	172394584	T	C	1	0	0	0	0	1	0	0	0	14516	1628	57	5		5	SH3PXD2B	5	172394584	Missense_Mutation	SNP	T	C3N-02423_TP	31037159	172394584	9143675	157	31076											
TBC1D9B	0	.	GRCh38	chr5	179864083	179864083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctgctccatggggtcttCactgaacatgttgtaaagcg	8	12	11	10	1	2	1	1	1	1	0	4	1	4	1	2	2	3	3	2	2	3	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.3118G>A	p.Glu1040Lys	p.E1040K	ENST00000356834	22/22	139	128	11	90	90	0	strelka-varscan-mutect	TBC1D9B,missense_variant,p.Glu1040Lys,ENST00000356834,NM_198868.2;TBC1D9B,missense_variant,p.Glu1023Lys,ENST00000355235,NM_015043.3;TBC1D9B,missense_variant,p.Glu199Lys,ENST00000519746,;TBC1D9B,3_prime_UTR_variant,,ENST00000524222,;TBC1D9B,intron_variant,,ENST00000522472,;CTC-241N9.1,downstream_gene_variant,,ENST00000499601,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000518085,;TBC1D9B,downstream_gene_variant,,ENST00000522180,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000520794,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000521469,;TBC1D9B,downstream_gene_variant,,ENST00000520912,;TBC1D9B,downstream_gene_variant,,ENST00000519757,;C5orf45,upstream_gene_variant,,ENST00000519398,;TBC1D9B,downstream_gene_variant,,ENST00000522921,;	T	ENST00000356834	Transcript	missense_variant	3156/5173	3118/3753	1040/1250	E/K	Gaa/Aaa		1		-1	TBC1D9B	HGNC	HGNC:29097	protein_coding	YES	CCDS43408.1	ENSP00000349291	Q66K14		UPI000034ECFF	NM_198868.2	deleterious(0.05)		22/22																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	179864083	179864083	C	T	1	0	0	0	0	1	0	0	0	16033	835	29	3		3	TBC1D9B	5	179864083	Missense_Mutation	SNP	C	C3N-02423_TP	7469499	179864083	1674176	158	31077											
RNF130	0	.	GRCh38	chr5	180040481	180040481	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcatggtaactggctcctcTttggatttattattgtagat	8	18	9	6	0	2	1	1	0	1	1	3	2	3	2	1	3	1	3	1	3	4	7	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.414A>T	p.Lys138Asn	p.K138N	ENST00000521389	2/9	170	135	35	113	113	0	strelka-varscan-mutect	RNF130,missense_variant,p.Lys138Asn,ENST00000522208,;RNF130,missense_variant,p.Lys138Asn,ENST00000521389,NM_018434.5;RNF130,missense_variant,p.Lys138Asn,ENST00000261947,NM_001280801.1;RNF130,missense_variant,p.Lys138Asn,ENST00000520911,;	A	ENST00000521389	Transcript	missense_variant	830/2263	414/1260	138/419	K/N	aaA/aaT		1		-1	RNF130	HGNC	HGNC:18280	protein_coding	YES	CCDS4451.1	ENSP00000430237	Q86XS8		UPI000003776B	NM_018434.5	tolerated(0.5)		2/9		hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF40,Pfam_domain:PF02225,Gene3D:3.50.30.30,Superfamily_domains:SSF52025																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	180040481	180040481	T	A	1	0	0	0	0	1	0	0	0	13616	1606	56	4		4	RNF130	5	180040481	Missense_Mutation	SNP	T	C3N-02423_TP	176398	180040481	1497778	159	31078											
NOL7	0	.	GRCh38	chr6	13615446	13615446	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctggcctcggaggaggagGaggcggagcacgggctgttg	7	5	21	8	3	0	0	0	0	0	0	1	5	0	5	1	8	2	4	1	8	0	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.88G>C	p.Glu30Gln	p.E30Q	ENST00000451315	1/8	149	139	10	155	155	0	strelka-varscan-mutect	NOL7,missense_variant,p.Glu30Gln,ENST00000451315,NM_016167.3;SIRT5,downstream_gene_variant,,ENST00000397350,NM_001242827.1;SIRT5,downstream_gene_variant,,ENST00000606117,NM_012241.4;SIRT5,downstream_gene_variant,,ENST00000359782,NM_001193267.2;NOL7,upstream_gene_variant,,ENST00000420088,;RP1-223E5.4,upstream_gene_variant,,ENST00000566170,;NOL7,upstream_gene_variant,,ENST00000474485,;SIRT5,downstream_gene_variant,,ENST00000379250,;	C	ENST00000451315	Transcript	missense_variant	120/1184	88/774	30/257	E/Q	Gag/Cag		1		1	NOL7	HGNC	HGNC:21040	protein_coding	YES	CCDS4528.1	ENSP00000405674	Q9UMY1	A0A024QZW2	UPI000007196C	NM_016167.3	tolerated_low_confidence(0.07)		1/8		hmmpanther:PTHR32337,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	13615446	13615446	G	C	1	0	0	0	0	1	0	0	0	10570	1175	41	4		4	NOL7	6	13615446	Missense_Mutation	SNP	G	C3N-02423_TP		13615446	157190533	160	31079											
PGBD1	0	.	GRCh38	chr6	28301429	28301429	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttacaaagttgagacctctCataaaacaaatgaataaaaa	21	10	4	6	0	1	2	1	2	1	1	2	3	1	2	1	0	2	1	1	0	9	5	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1575C>G	p.=	p.L525L	ENST00000259883	7/7	280	262	18	272	272	0	strelka-varscan	PGBD1,synonymous_variant,p.=,ENST00000259883,NM_032507.3,NM_001184743.1;	G	ENST00000259883	Transcript	synonymous_variant	1980/3100	1575/2430	525/809	L	ctC/ctG		1		1	PGBD1	HGNC	HGNC:19398	protein_coding	YES	CCDS4648.1	ENSP00000259883	Q96JS3		UPI000006ED63	NM_032507.3,NM_001184743.1			7/7		Pfam_domain:PF13843,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF9																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	99	28301429	28301429	C	G	1	0	0	0	0	0	0	0	1	11870	813	29	4		4	PGBD1	6	28301429	Silent	SNP	C	C3N-02423_TP	14685983	28301429	142504550	161	31080											
OR2B3	0	.	GRCh38	chr6	29087028	29087028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatgagggactgtagttgtgGtatagcagagatctaagatg	12	12	14	3	0	1	3	0	1	1	2	1	5	1	4	0	2	1	4	0	2	5	6	rs199542279		C3N-02423_TP	C3N-02423_NB	G	G																c.221C>A	p.Thr74Asn	p.T74N	ENST00000377173	1/1	381	348	33	439	438	1	strelka-varscan	OR2B3,missense_variant,p.Thr74Asn,ENST00000377173,NM_001005226.2;	T	ENST00000377173	Transcript	missense_variant	286/1007	221/942	74/313	T/N	aCc/aAc	rs199542279	1		-1	OR2B3	HGNC	HGNC:8238	protein_coding	YES	CCDS34358.1	ENSP00000366378	O76000	A0A126GV76	UPI0000041DB9	NM_001005226.2	deleterious(0.02)		1/1		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF103,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	99	29087028	29087028	G	T	1	0	0	0	0	1	0	0	0	11069	1261	44	2		2	OR2B3	6	29087028	Missense_Mutation	SNP	G	C3N-02423_TP	785599	29087028	141718951	162	31081											
DEF6	0	.	GRCh38	chr6	35319641	35319641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaggaggccctgcaactaGaggtgaaagctcggcgagat	11	6	15	9	2	0	3	0	1	0	2	1	5	0	4	1	4	4	3	1	4	3	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1333G>C	p.Glu445Gln	p.E445Q	ENST00000316637	8/11	107	96	11	103	103	0	strelka-varscan	DEF6,missense_variant,p.Glu445Gln,ENST00000316637,NM_022047.3;DEF6,downstream_gene_variant,,ENST00000468102,;	C	ENST00000316637	Transcript	missense_variant	1338/2262	1333/1896	445/631	E/Q	Gag/Cag		1		1	DEF6	HGNC	HGNC:2760	protein_coding	YES	CCDS4802.1	ENSP00000319831	Q9H4E7		UPI000006E74E	NM_022047.3	tolerated(0.08)		8/11		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14383,hmmpanther:PTHR14383:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	35319641	35319641	G	C	1	0	0	0	0	1	0	0	0	4189	943	33	4		4	DEF6	6	35319641	Missense_Mutation	SNP	G	C3N-02423_TP	6232613	35319641	135486338	163	31082											
SRPK1	0	.	GRCh38	chr6	35891003	35891003	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagcagagcctcggtgctGagtttcagatctaagaaatg	11	9	14	7	1	2	4	1	1	1	3	3	5	2	5	1	2	3	3	1	2	2	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.85C>T	p.Gln29Ter	p.Q29*	ENST00000373825	3/16	148	134	14	175	174	1	strelka-varscan	SRPK1,stop_gained,p.Gln29Ter,ENST00000373825,NM_003137.4;SRPK1,stop_gained,p.Gln13Ter,ENST00000423325,;SRPK1,stop_gained,p.Gln45Ter,ENST00000361690,;SRPK1,stop_gained,p.Gln101Ter,ENST00000507909,;SRPK1,stop_gained,p.Gln45Ter,ENST00000512445,;SRPK1,intron_variant,,ENST00000510290,;SRPK1,non_coding_transcript_exon_variant,,ENST00000373821,;SRPK1,synonymous_variant,p.=,ENST00000508473,;SRPK1,non_coding_transcript_exon_variant,,ENST00000346162,;SRPK1,non_coding_transcript_exon_variant,,ENST00000513367,;	A	ENST00000373825	Transcript	stop_gained	371/4592	85/1968	29/655	Q/*	Cag/Tag		1		-1	SRPK1	HGNC	HGNC:11305	protein_coding	YES	CCDS47415.1	ENSP00000362931	Q96SB4		UPI000020DBDD	NM_003137.4			3/16		hmmpanther:PTHR24055:SF101,hmmpanther:PTHR24055																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	99	35891003	35891003	G	A	1	0	0	0	0	0	1	0	0	15520	1299	45	3		3	SRPK1	6	35891003	Nonsense_Mutation	SNP	G	C3N-02423_TP	571362	35891003	134914976	164	31083											
ADGRF5	0	.	GRCh38	chr6	46884191	46884191	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcacgctcttgacaaatgaGattgtgaagacacctttccc	11	11	8	11	1	2	4	1	3	1	2	3	5	3	4	2	0	0	1	2	0	2	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.409C>G	p.Leu137Val	p.L137V	ENST00000283296	5/21	175	160	15	196	196	0	strelka-varscan	ADGRF5,missense_variant,p.Leu137Val,ENST00000283296,NM_001098518.1;ADGRF5,missense_variant,p.Leu137Val,ENST00000265417,NM_015234.4;ADGRF5,downstream_gene_variant,,ENST00000478711,;	C	ENST00000283296	Transcript	missense_variant	698/5810	409/4041	137/1346	L/V	Ctc/Gtc		1		-1	ADGRF5	HGNC	HGNC:19030	protein_coding	YES	CCDS4919.1	ENSP00000283296	Q8IZF2		UPI000007075A	NM_001098518.1	tolerated(0.83)		5/21		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	46884191	46884191	G	C	1	0	0	0	0	1	0	0	0	367	942	33	4		4	ADGRF5	6	46884191	Missense_Mutation	SNP	G	C3N-02423_TP	10993188	46884191	123921788	165	31084											
HTR1B	0	.	GRCh38	chr6	77462931	77462931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgggagtccttttagctGagtactccacggcgtccgtg	5	13	12	11	3	1	1	0	1	1	0	4	2	4	2	3	2	2	2	3	2	2	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.473C>T	p.Ser158Leu	p.S158L	ENST00000369947	1/1	263	238	25	363	363	0	strelka-varscan	HTR1B,missense_variant,p.Ser158Leu,ENST00000369947,NM_000863.1;	A	ENST00000369947	Transcript	missense_variant	843/2021	473/1173	158/390	S/L	tCa/tTa		1		-1	HTR1B	HGNC	HGNC:5287	protein_coding	YES	CCDS4986.1	ENSP00000358963	P28222	X5D7I5	UPI00000007CB	NM_000863.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF16,Gene3D:1.20.1070.10,Pfam_domain:PF00001,SMART_domains:SM01381,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	99	77462931	77462931	G	A	1	0	0	0	0	1	0	0	0	7333	1294	45	3		3	HTR1B	6	77462931	Missense_Mutation	SNP	G	C3N-02423_TP	30578740	77462931	93343048	166	31085											
IBTK	0	.	GRCh38	chr6	82202569	82202569	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atattcaatcctataaactgTaaacaagacagtttcaactg	17	12	4	8	0	2	1	2	0	0	1	3	1	3	1	1	0	3	2	1	0	9	6	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.2688A>C	p.Leu896Phe	p.L896F	ENST00000306270	18/29	234	219	15	239	238	1	strelka-varscan	IBTK,missense_variant,p.Leu896Phe,ENST00000306270,NM_015525.3;IBTK,missense_variant,p.Leu695Phe,ENST00000610980,;IBTK,missense_variant,p.Leu896Phe,ENST00000510291,NM_001300906.1;IBTK,missense_variant,p.Leu695Phe,ENST00000503631,;IBTK,3_prime_UTR_variant,,ENST00000503400,;IBTK,non_coding_transcript_exon_variant,,ENST00000505222,;IBTK,non_coding_transcript_exon_variant,,ENST00000369751,;IBTK,non_coding_transcript_exon_variant,,ENST00000445419,;	G	ENST00000306270	Transcript	missense_variant	3238/6054	2688/4062	896/1353	L/F	ttA/ttC		1		-1	IBTK	HGNC	HGNC:17853	protein_coding	YES	CCDS34490.1	ENSP00000305721	Q9P2D0		UPI000041929F	NM_015525.3	tolerated(0.22)		18/29		hmmpanther:PTHR22872:SF2,hmmpanther:PTHR22872																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	82202569	82202569	T	G	1	0	0	0	0	1	0	0	0	7376	1635	57	5		5	IBTK	6	82202569	Missense_Mutation	SNP	T	C3N-02423_TP	4739638	82202569	88603410	167	31086											
GRIK2	0	.	GRCh38	chr6	101924642	101924642	+	Missense_Mutation	SNP	C	C	A																															taatccacacccttgcaaccCtgactcagacgtggtggaaa																										C3N-02423_TP	C3N-02423_NB	C	C																c.1790C>A	p.Pro597His	p.P597H	ENST00000421544	12/16	126	115	11	167	166	1	strelka-varscan-mutect	GRIK2,missense_variant,p.Pro597His,ENST00000369138,NM_001166247.1;GRIK2,missense_variant,p.Pro597His,ENST00000413795,NM_175768.3;GRIK2,missense_variant,p.Pro597His,ENST00000421544,NM_021956.4;GRIK2,missense_variant,p.Pro559His,ENST00000318991,;GRIK2,missense_variant,p.Pro559His,ENST00000369137,;GRIK2,missense_variant,p.Pro559His,ENST00000369134,;GRIK2,upstream_gene_variant,,ENST00000487395,;GRIK2,upstream_gene_variant,,ENST00000487161,;	A	ENST00000421544	Transcript	missense_variant	2280/4789	1790/2727	597/908	P/H	cCt/cAt	COSM5301341,COSM5301342,COSM5301343	1		1	GRIK2	HGNC	HGNC:4580	protein_coding	YES	CCDS5048.1	ENSP00000397026	Q13002		UPI000012B617	NM_021956.4	deleterious(0)		12/16		Gene3D:1.10.287.70,Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,SMART_domains:SM00079											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs1318536936	.												A	3	1	99	101924642	101924642	C	A	1	0	0	0	0	1	0	0	0	6656	681	24	2		2	GRIK2	6	101924642	Missense_Mutation	SNP	C	C3N-02423_TP	19722073	101924642	68881337	168	31087	637	2									
GRIK2	0	.	GRCh38	chr6	101924643	101924643	+	Silent	SNP	T	T	G																															aatccacacccttgcaacccTgactcagacgtggtggaaaa																								novel		C3N-02423_TP	C3N-02423_NB	T	T																c.1791T>G	p.=	p.P597P	ENST00000421544	12/16	128	117	11	167	167	0	strelka-varscan-mutect	GRIK2,synonymous_variant,p.=,ENST00000369138,NM_001166247.1;GRIK2,synonymous_variant,p.=,ENST00000413795,NM_175768.3;GRIK2,synonymous_variant,p.=,ENST00000421544,NM_021956.4;GRIK2,synonymous_variant,p.=,ENST00000318991,;GRIK2,synonymous_variant,p.=,ENST00000369137,;GRIK2,synonymous_variant,p.=,ENST00000369134,;GRIK2,upstream_gene_variant,,ENST00000487395,;GRIK2,upstream_gene_variant,,ENST00000487161,;	G	ENST00000421544	Transcript	synonymous_variant	2281/4789	1791/2727	597/908	P	ccT/ccG		1		1	GRIK2	HGNC	HGNC:4580	protein_coding	YES	CCDS5048.1	ENSP00000397026	Q13002		UPI000012B617	NM_021956.4			12/16		Gene3D:1.10.287.70,Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,SMART_domains:SM00079																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	99	101924643	101924643	T	G	1	0	0	0	0	0	0	0	1	6656	1567	55	5		5	GRIK2	6	101924643	Silent	SNP	T	C3N-02423_TP	1	101924643	68881336	169	31088	637	2									
HDAC2	0	.	GRCh38	chr6	113959978	113959978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcggattctatgaggcttCatgggatgaccctgtccata	9	12	11	9	1	2	2	1	2	1	0	3	4	3	4	2	3	1	1	2	3	2	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.93G>A	p.Met31Ile	p.M31I	ENST00000519065	2/14	185	170	15	209	209	0	strelka-varscan-mutect	HDAC2,start_lost,p.Met1?,ENST00000368632,;HDAC2,start_lost,p.Met1?,ENST00000519108,;HDAC2,start_lost,p.Met1?,ENST00000521610,;HDAC2,start_lost,p.Met1?,ENST00000524334,;HDAC2,start_lost,p.Met1?,ENST00000518690,;HDAC2,start_lost,p.Met1?,ENST00000523240,;HDAC2,start_lost,p.Met1?,ENST00000520895,;HDAC2,start_lost,p.Met1?,ENST00000523628,;HDAC2,start_lost,p.Met1?,ENST00000522371,;HDAC2,missense_variant,p.Met31Ile,ENST00000519065,NM_001527.3;HDAC2,missense_variant,p.Met38Ile,ENST00000521163,;HDAC2,missense_variant,p.Met21Ile,ENST00000425835,;HDAC2,non_coding_transcript_exon_variant,,ENST00000521233,;HDAC2,non_coding_transcript_exon_variant,,ENST00000520170,;HDAC2,upstream_gene_variant,,ENST00000523334,;HDAC2,upstream_gene_variant,,ENST00000518756,;	T	ENST00000519065	Transcript	missense_variant	470/9874	93/1467	31/488	M/I	atG/atA		1		-1	HDAC2	HGNC	HGNC:4853	protein_coding	YES	CCDS43493.2	ENSP00000430432	Q92769		UPI000020E11B	NM_001527.3	deleterious(0)		2/14		hmmpanther:PTHR10625:SF109,hmmpanther:PTHR10625,Pfam_domain:PF00850,PIRSF_domain:PIRSF037913,Gene3D:3.40.800.20,Superfamily_domains:SSF52768,Prints_domain:PR01271																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	113959978	113959978	C	T	1	0	0	0	0	1	0	0	0	6894	826	29	3		3	HDAC2	6	113959978	Missense_Mutation	SNP	C	C3N-02423_TP	12035335	113959978	56846001	170	31089											
STX11	0	.	GRCh38	chr6	144187078	144187078	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgactacaaccaggccgagAtgaagcagcgcgacaactgc	14	3	11	13	4	0	2	0	1	0	1	0	5	0	2	2	1	6	1	2	1	4	1	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.451A>C	p.Met151Leu	p.M151L	ENST00000367568	2/2	464	363	101	552	551	1	strelka-varscan	STX11,missense_variant,p.Met151Leu,ENST00000367568,NM_003764.3;	C	ENST00000367568	Transcript	missense_variant	634/1926	451/864	151/287	M/L	Atg/Ctg		1		1	STX11	HGNC	HGNC:11429	protein_coding	YES	CCDS5205.1	ENSP00000356540	O75558		UPI0000001C25	NM_003764.3	tolerated(0.07)		2/2		Gene3D:1.20.58.70,Pfam_domain:PF00804,hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF30,SMART_domains:SM00503,Superfamily_domains:SSF47661																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	144187078	144187078	A	C	1	0	0	0	0	1	0	0	0	15721	333	12	5		5	STX11	6	144187078	Missense_Mutation	SNP	A	C3N-02423_TP	30227100	144187078	26618901	171	31090											
TIAM2	0	.	GRCh38	chr6	155130007	155130007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaatgctggagagctgagcGaggctgagggctccttcctg	7	8	16	10	1	0	3	0	2	0	1	2	5	2	3	2	3	3	5	2	3	1	1	rs182530977		C3N-02423_TP	C3N-02423_NB	G	G																c.784G>A	p.Glu262Lys	p.E262K	ENST00000461783	6/29	254	238	16	264	264	0	strelka-varscan	TIAM2,missense_variant,p.Glu262Lys,ENST00000461783,;TIAM2,missense_variant,p.Glu262Lys,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Glu262Lys,ENST00000360366,;TIAM2,missense_variant,p.Glu262Lys,ENST00000529824,;TIAM2,missense_variant,p.Glu262Lys,ENST00000528535,;TIAM2,downstream_gene_variant,,ENST00000535583,;TIAM2,downstream_gene_variant,,ENST00000538270,;TIAM2,downstream_gene_variant,,ENST00000535231,;TIAM2,downstream_gene_variant,,ENST00000545347,;	A	ENST00000461783	Transcript	missense_variant	2057/6981	784/5106	262/1701	E/K	Gag/Aag	rs182530977,COSM3622215,COSM3920967	1		1	TIAM2	HGNC	HGNC:11806	protein_coding	YES	CCDS34558.1	ENSP00000437188	Q8IVF5		UPI00004DF8BE		deleterious(0)		6/29		hmmpanther:PTHR22826:SF118,hmmpanther:PTHR22826											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		.	.												A	3	1	99	155130007	155130007	G	A	1	0	0	0	0	1	0	0	0	16325	1059	37	1		1	TIAM2	6	155130007	Missense_Mutation	SNP	G	C3N-02423_TP	10942929	155130007	15675972	172	31091											
LRRC72	0	.	GRCh38	chr7	16532494	16532494	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agattaattatatgttatcaGgcagttgaagatcagctaaa	16	13	8	4	0	2	3	2	1	0	2	2	3	2	3	0	1	1	4	0	1	7	6	rs778520591		C3N-02423_TP	C3N-02423_NB	G	G																c.91-1G>T		p.X31_splice	ENST00000401542		252	219	33	232	232	0	strelka-varscan-mutect	LRRC72,splice_acceptor_variant,,ENST00000401542,NM_001195280.1;SOSTDC1,upstream_gene_variant,,ENST00000396652,;LRRC72,splice_acceptor_variant,,ENST00000482711,;LRRC72,splice_acceptor_variant,,ENST00000382124,;	T	ENST00000401542	Transcript	splice_acceptor_variant	-/1000	91/864	31/287			rs778520591	1		1	LRRC72	HGNC	HGNC:42972	protein_coding	YES	CCDS56464.1	ENSP00000384971	A6NJI9		UPI000173A227	NM_001195280.1				1/8																		HIGH	1	SNV	5			1										PASS		rs778520591	.												T	5	4	99	16532494	16532494	G	T	1	0	0	0	0	0	0	1	0	8919	1014	35	2		2	LRRC72	7	16532494	Splice_Site	SNP	G	C3N-02423_TP		16532494	142813479	173	31092											
STK31	0	.	GRCh38	chr7	23752830	23752830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggaaatactgaaagaaatGaggtaggtaaaagcatattt	19	10	10	2	0	0	3	0	2	0	1	0	4	0	4	0	3	2	3	0	3	8	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1131G>C	p.Met377Ile	p.M377I	ENST00000355870	9/24	189	173	16	200	200	0	strelka-varscan	STK31,missense_variant,p.Met354Ile,ENST00000354639,NM_032944.3,NM_001260504.1;STK31,missense_variant,p.Met377Ile,ENST00000355870,NM_031414.4;STK31,missense_variant,p.Met377Ile,ENST00000433467,NM_001260505.1;STK31,splice_region_variant,,ENST00000405627,;STK31,splice_region_variant,,ENST00000478321,;STK31,splice_region_variant,,ENST00000529549,;STK31,splice_region_variant,,ENST00000476399,;	C	ENST00000355870	Transcript	missense_variant,splice_region_variant	1250/3326	1131/3060	377/1019	M/I	atG/atC		1		1	STK31	HGNC	HGNC:11407	protein_coding	YES	CCDS5386.1	ENSP00000348132	Q9BXU1		UPI0000167B73	NM_031414.4	tolerated(0.87)		9/24		hmmpanther:PTHR12302,hmmpanther:PTHR12302:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	23752830	23752830	G	C	1	0	0	0	0	1	0	0	0	15673	1304	45	4		4	STK31	7	23752830	Missense_Mutation	SNP	G	C3N-02423_TP	7220336	23752830	135593143	174	31093											
STK31	0	.	GRCh38	chr7	23832159	23832159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gataaagtcaaatccctcctCtgtagcttgatatgttatag	12	14	7	8	0	2	1	1	1	1	0	4	2	4	1	2	0	1	3	2	0	7	6	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.2853C>T	p.=	p.L951L	ENST00000355870	24/24	174	162	12	176	176	0	strelka-varscan	STK31,synonymous_variant,p.=,ENST00000354639,NM_032944.3,NM_001260504.1;STK31,synonymous_variant,p.=,ENST00000355870,NM_031414.4;STK31,synonymous_variant,p.=,ENST00000433467,NM_001260505.1;STK31,non_coding_transcript_exon_variant,,ENST00000405627,;	T	ENST00000355870	Transcript	synonymous_variant	2972/3326	2853/3060	951/1019	L	ctC/ctT		1		1	STK31	HGNC	HGNC:11407	protein_coding	YES	CCDS5386.1	ENSP00000348132	Q9BXU1		UPI0000167B73	NM_031414.4			24/24		Gene3D:1.10.510.10,PROSITE_profiles:PS50011,hmmpanther:PTHR12302,hmmpanther:PTHR12302:SF3,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	23832159	23832159	C	T	1	0	0	0	0	0	0	0	1	15673	900	32	3		3	STK31	7	23832159	Silent	SNP	C	C3N-02423_TP	79329	23832159	135513814	175	31094											
CPVL	0	.	GRCh38	chr7	29095083	29095083	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagggtcatcccggacttaCtggattgtcaatgtaaagca	12	10	10	9	1	2	0	2	0	0	0	3	2	3	2	1	3	2	2	1	3	4	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.462+1G>C		p.X154_splice	ENST00000409850		270	229	41	282	282	0	strelka-varscan	CPVL,splice_donor_variant,,ENST00000409850,;CPVL,splice_donor_variant,,ENST00000265394,NM_031311.3;CPVL,splice_donor_variant,,ENST00000396276,NM_019029.2;CPVL,splice_donor_variant,,ENST00000448959,;CPVL,splice_donor_variant,,ENST00000447426,;CPVL,splice_donor_variant,,ENST00000458405,;CPVL,downstream_gene_variant,,ENST00000488891,;	G	ENST00000409850	Transcript	splice_donor_variant	-/2213	462/1431	154/476				1		-1	CPVL	HGNC	HGNC:14399	protein_coding	YES	CCDS5419.1	ENSP00000387164	Q9H3G5	A0A024RA40	UPI0000048F1B					9/16																		HIGH	1	SNV	2			1										PASS		.	.												G	5	3	99	29095083	29095083	C	G	1	0	0	0	0	0	0	1	0	3633	579	20	4		4	CPVL	7	29095083	Splice_Site	SNP	C	C3N-02423_TP	5262924	29095083	130250890	176	31095											
ZNRF2	0	.	GRCh38	chr7	30285633	30285633	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggggagcgtggcgtcGggggcccgcgcggcgcagtc	2	4	22	13	8	0	0	0	0	0	0	2	1	0	1	2	6	1	1	2	6	0	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.276G>T	p.=	p.S92S	ENST00000323037	1/5	63	56	7	70	70	0	strelka-varscan	ZNRF2,synonymous_variant,p.=,ENST00000323037,NM_147128.3;MIR550A1,upstream_gene_variant,,ENST00000385037,;hsa-mir-550a-1,downstream_gene_variant,,ENST00000637270,;ZNRF2,non_coding_transcript_exon_variant,,ENST00000459998,;	T	ENST00000323037	Transcript	synonymous_variant	1327/3460	276/729	92/242	S	tcG/tcT		1		1	ZNRF2	HGNC	HGNC:22316	protein_coding	YES	CCDS5426.1	ENSP00000323879	Q8NHG8	A0A090N8Y8	UPI000006DDF0	NM_147128.3			1/5		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	30285633	30285633	G	T	1	0	0	0	0	0	0	0	1	18805	1103	39	1		1	ZNRF2	7	30285633	Silent	SNP	G	C3N-02423_TP	1190550	30285633	129060340	177	31096											
CRHR2	0	.	GRCh38	chr7	30653490	30653490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgtctgcttgatgctgtgGaagctgatccgtgtgggtga	5	12	16	8	2	1	3	0	3	1	0	2	4	2	4	2	2	3	3	2	2	1	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1287C>A	p.Phe429Leu	p.F429L	ENST00000348438	13/13	206	167	39	209	209	0	strelka-varscan	CRHR2,missense_variant,p.Phe388Leu,ENST00000341843,NM_001202481.1;CRHR2,missense_variant,p.Phe402Leu,ENST00000471646,NM_001883.4,NM_001202482.1;CRHR2,missense_variant,p.Phe429Leu,ENST00000348438,NM_001202475.1;CRHR2,3_prime_UTR_variant,,ENST00000506074,NM_001202483.1;CRHR2,3_prime_UTR_variant,,ENST00000452278,;	T	ENST00000348438	Transcript	missense_variant	1357/1600	1287/1317	429/438	F/L	ttC/ttA		1		-1	CRHR2	HGNC	HGNC:2358	protein_coding	YES	CCDS56478.1	ENSP00000340943	Q13324		UPI000002A720	NM_001202475.1	tolerated(0.08)		13/13		Prints_domain:PR01279,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF274																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	30653490	30653490	G	T	1	0	0	0	0	1	0	0	0	3673	1165	41	2		2	CRHR2	7	30653490	Missense_Mutation	SNP	G	C3N-02423_TP	367857	30653490	128692483	178	31097											
HECW1	0	.	GRCh38	chr7	43541210	43541210	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggctctgatccatcagtAccttcttgacgctttcttca	6	16	6	13	1	6	2	2	2	4	0	7	2	7	2	2	1	1	3	2	1	1	5	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.4067A>G	p.Tyr1356Cys	p.Y1356C	ENST00000395891	25/30	302	284	18	313	313	0	strelka-varscan-mutect	HECW1,missense_variant,p.Tyr1356Cys,ENST00000395891,NM_015052.4;HECW1,missense_variant,p.Tyr1322Cys,ENST00000453890,NM_001287059.1;HECW1,missense_variant,p.Tyr80Cys,ENST00000429529,;	G	ENST00000395891	Transcript	missense_variant	4672/9501	4067/4821	1356/1606	Y/C	tAc/tGc		1		1	HECW1	HGNC	HGNC:22195	protein_coding	YES	CCDS5469.2	ENSP00000379228	Q76N89		UPI0000D74C41	NM_015052.4	tolerated(0.06)		25/30		PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	43541210	43541210	A	G	1	0	0	0	0	1	0	0	0	6924	391	14	5		5	HECW1	7	43541210	Missense_Mutation	SNP	A	C3N-02423_TP	12887720	43541210	115804763	179	31098											
AEBP1	0	.	GRCh38	chr7	44106819	44106819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccccccattctggctccctCagaaaccctggagtggccac	7	7	9	18	0	2	1	1	0	1	1	3	2	3	2	6	3	1	1	6	3	1	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.527C>T	p.Ser176Leu	p.S176L	ENST00000223357	2/21	244	221	23	247	247	0	strelka-varscan-mutect	AEBP1,missense_variant,p.Ser176Leu,ENST00000223357,NM_001129.4;AEBP1,missense_variant,p.Ser134Leu,ENST00000455443,;AEBP1,missense_variant,p.Ser92Leu,ENST00000449162,;AEBP1,upstream_gene_variant,,ENST00000450684,;AEBP1,upstream_gene_variant,,ENST00000582839,;AEBP1,upstream_gene_variant,,ENST00000454218,;AEBP1,upstream_gene_variant,,ENST00000413907,;AEBP1,upstream_gene_variant,,ENST00000431035,;AEBP1,upstream_gene_variant,,ENST00000453052,;AEBP1,upstream_gene_variant,,ENST00000434445,;	T	ENST00000223357	Transcript	missense_variant	832/4081	527/3477	176/1158	S/L	tCa/tTa		1		1	AEBP1	HGNC	HGNC:303	protein_coding	YES	CCDS5476.1	ENSP00000223357	Q8IUX7		UPI00000746E2	NM_001129.4	tolerated_low_confidence(0.38)		2/21		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	44106819	44106819	C	T	1	0	0	0	0	1	0	0	0	424	838	29	3		3	AEBP1	7	44106819	Missense_Mutation	SNP	C	C3N-02423_TP	565609	44106819	115239154	180	31099											
H2AFV	0	.	GRCh38	chr7	44834534	44834534	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgtcccttctttccaatCagagatttgtggatgtgagg	7	15	11	8	0	2	2	1	1	1	1	4	4	4	3	2	2	1	1	2	2	1	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.354G>C	p.=	p.L118L	ENST00000308153	5/5	199	184	15	177	177	0	strelka-varscan-mutect	H2AFV,synonymous_variant,p.=,ENST00000308153,NM_012412.4;H2AFV,synonymous_variant,p.=,ENST00000350771,NM_201436.2;H2AFV,synonymous_variant,p.=,ENST00000349299,NM_201517.2;H2AFV,3_prime_UTR_variant,,ENST00000381124,NM_201516.2;H2AFV,3_prime_UTR_variant,,ENST00000521529,;H2AFV,intron_variant,,ENST00000222690,NM_138635.3;H2AFV,intron_variant,,ENST00000437072,;H2AFV,downstream_gene_variant,,ENST00000446531,;	G	ENST00000308153	Transcript	synonymous_variant	446/752	354/387	118/128	L	ctG/ctC		1		-1	H2AFV	HGNC	HGNC:20664	protein_coding	YES	CCDS5496.1	ENSP00000308405	Q71UI9		UPI00000001D4	NM_012412.4			5/5		hmmpanther:PTHR23430,Pfam_domain:PF16211,Gene3D:1.10.20.10,SMART_domains:SM00414,Prints_domain:PR00620																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	99	44834534	44834534	C	G	1	0	0	0	0	0	0	0	1	6808	813	29	4		4	H2AFV	7	44834534	Silent	SNP	C	C3N-02423_TP	727715	44834534	114511439	181	31100											
PKD1L1	0	.	GRCh38	chr7	47813152	47813152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggctgagcacacagtcctCccttgtcccacagcccccag	8	6	8	19	0	0	1	0	1	0	0	3	1	3	1	5	1	2	2	5	1	0	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.7315G>A	p.Glu2439Lys	p.E2439K	ENST00000289672	49/57	150	133	17	142	142	0	strelka-varscan-mutect	PKD1L1,missense_variant,p.Glu2439Lys,ENST00000289672,NM_138295.3;PKD1L1,missense_variant,p.Glu30Lys,ENST00000433506,;C7orf69,intron_variant,,ENST00000418326,;C7orf69,intron_variant,,ENST00000623971,;PKD1L1,upstream_gene_variant,,ENST00000462350,;PKD1L1,non_coding_transcript_exon_variant,,ENST00000483616,;HUS1,intron_variant,,ENST00000436444,;	T	ENST00000289672	Transcript	missense_variant	7366/9092	7315/8550	2439/2849	E/K	Gag/Aag		1		-1	PKD1L1	HGNC	HGNC:18053	protein_coding	YES	CCDS34633.1	ENSP00000289672	Q8TDX9		UPI0000130FA9	NM_138295.3	tolerated(0.24)		49/57		hmmpanther:PTHR10877:SF145,hmmpanther:PTHR10877																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	47813152	47813152	C	T	1	0	0	0	0	1	0	0	0	12060	864	30	3		3	PKD1L1	7	47813152	Missense_Mutation	SNP	C	C3N-02423_TP	2978618	47813152	111532821	182	31101											
ZNF713	0	.	GRCh38	chr7	55939035	55939035	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacaagccagaatatttctGatgaaaatcaaacccatgag	17	8	6	10	0	2	4	1	3	1	1	2	4	2	4	3	0	2	0	3	0	6	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.361G>C	p.Asp121His	p.D121H	ENST00000429591	7/7	91	85	6	93	93	0	strelka-mutect	ZNF713,missense_variant,p.Asp121His,ENST00000429591,NM_182633.2;ZNF713,missense_variant,p.Asp108His,ENST00000633730,;RP11-15K19.2,intron_variant,,ENST00000426595,;	C	ENST00000429591	Transcript	missense_variant	1149/4339	361/1332	121/443	D/H	Gat/Cat		1		1	ZNF713	HGNC	HGNC:22043	protein_coding	YES		ENSP00000416662		A0A0M3HEQ9	UPI0000140F17	NM_182633.2	deleterious(0.05)		7/7		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF80																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	99	55939035	55939035	G	C	1	0	0	0	0	1	0	0	0	18692	1290	45	4		4	ZNF713	7	55939035	Missense_Mutation	SNP	G	C3N-02423_TP	8125883	55939035	103406938	183	31102											
ZNF735	0	.	GRCh38	chr7	64220020	64220020	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaattcatactggagagaaAccctacacatgtgaagaatg	17	8	9	7	0	1	4	1	1	0	3	1	6	1	5	1	1	3	0	1	1	6	3	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.969A>G	p.=	p.K323K	ENST00000429565	4/4	255	241	14	373	373	0	varscan-mutect	ZNF735,synonymous_variant,p.=,ENST00000429565,NM_001159524.1;	G	ENST00000429565	Transcript	synonymous_variant	1082/1570	969/1239	323/412	K	aaA/aaG		1		1	ZNF735	HGNC	HGNC:32466	protein_coding	YES	CCDS78236.1	ENSP00000485547	P0CB33		UPI0001662441	NM_001159524.1			4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF103,Superfamily_domains:SSF57667																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	99	64220020	64220020	A	G	1	0	0	0	0	0	0	0	1	18706	40	2	5		5	ZNF735	7	64220020	Silent	SNP	A	C3N-02423_TP	8280985	64220020	95125953	184	31103											
CCDC146	0	.	GRCh38	chr7	77293138	77293138	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaataaggaaattgagaaaGaatggttgaaagtccttcga	17	10	10	4	1	1	3	1	2	0	2	3	6	2	4	1	2	0	1	1	2	6	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2602G>T	p.Glu868Ter	p.E868*	ENST00000285871	18/19	369	346	23	341	341	0	strelka-varscan	CCDC146,stop_gained,p.Glu868Ter,ENST00000285871,NM_020879.2;CCDC146,non_coding_transcript_exon_variant,,ENST00000415740,;CCDC146,non_coding_transcript_exon_variant,,ENST00000488998,;CCDC146,non_coding_transcript_exon_variant,,ENST00000461259,;CCDC146,non_coding_transcript_exon_variant,,ENST00000478101,;CCDC146,non_coding_transcript_exon_variant,,ENST00000474733,;	T	ENST00000285871	Transcript	stop_gained	2729/3333	2602/2868	868/955	E/*	Gaa/Taa		1		1	CCDC146	HGNC	HGNC:29296	protein_coding	YES	CCDS34671.1	ENSP00000285871	Q8IYE0		UPI000020F44F	NM_020879.2			18/19		hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF27																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	99	77293138	77293138	G	T	1	0	0	0	0	0	1	0	0	2467	943	33	2		2	CCDC146	7	77293138	Nonsense_Mutation	SNP	G	C3N-02423_TP	13073118	77293138	82052835	185	31104											
DMTF1	0	.	GRCh38	chr7	87181328	87181328	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatacacctgaagaaattGagaagctcaaggagtaagtt	17	9	10	5	0	1	3	1	2	0	2	1	6	1	4	1	1	2	3	1	1	7	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.697G>T	p.Glu233Ter	p.E233*	ENST00000394703	11/20	57	53	4	89	89	0	strelka-varscan	DMTF1,stop_gained,p.Glu233Ter,ENST00000394703,NM_021145.3;DMTF1,stop_gained,p.Glu233Ter,ENST00000331242,NM_001142327.1;DMTF1,stop_gained,p.Glu233Ter,ENST00000413276,;DMTF1,stop_gained,p.Glu145Ter,ENST00000432937,NM_001142326.1;DMTF1,downstream_gene_variant,,ENST00000425705,;DMTF1,downstream_gene_variant,,ENST00000430405,;uc_338,upstream_gene_variant,,ENST00000615087,;DMTF1,stop_gained,p.Glu233Ter,ENST00000412139,;DMTF1,stop_gained,p.Glu233Ter,ENST00000447863,;DMTF1,stop_gained,p.Glu233Ter,ENST00000579677,;DMTF1,stop_gained,p.Glu192Ter,ENST00000425406,;DMTF1,stop_gained,p.Glu233Ter,ENST00000547146,;DMTF1,stop_gained,p.Glu192Ter,ENST00000579850,;DMTF1,stop_gained,p.Glu233Ter,ENST00000584619,;DMTF1,non_coding_transcript_exon_variant,,ENST00000473521,;DMTF1,upstream_gene_variant,,ENST00000480982,;DMTF1,upstream_gene_variant,,ENST00000582887,;DMTF1,upstream_gene_variant,,ENST00000578926,;	T	ENST00000394703	Transcript	stop_gained	1260/4038	697/2283	233/760	E/*	Gag/Tag		1		1	DMTF1	HGNC	HGNC:14603	protein_coding	YES	CCDS5601.1	ENSP00000378193	Q9Y222		UPI000006FB78	NM_021145.3			11/20		Gene3D:1.10.10.60,Pfam_domain:PF00249,PROSITE_profiles:PS50090,hmmpanther:PTHR10641,hmmpanther:PTHR10641:SF672,Low_complexity_(Seg):seg,SMART_domains:SM00717,Superfamily_domains:SSF46689																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	99	87181328	87181328	G	T	1	0	0	0	0	0	1	0	0	4400	1291	45	2		2	DMTF1	7	87181328	Nonsense_Mutation	SNP	G	C3N-02423_TP	9888190	87181328	72164645	186	31105											
ASNS	0	.	GRCh38	chr7	97864320	97864320	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgctttaaacaaaggtctGactccatatgtatctctacc	12	14	5	10	0	2	1	0	1	2	0	4	1	3	1	2	1	3	2	2	1	6	6	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.426C>G	p.=	p.V142V	ENST00000175506	5/14	308	280	28	350	350	0	strelka-varscan	ASNS,synonymous_variant,p.=,ENST00000175506,NM_183356.3;ASNS,synonymous_variant,p.=,ENST00000394309,NM_133436.3;ASNS,synonymous_variant,p.=,ENST00000394308,NM_001673.4;ASNS,synonymous_variant,p.=,ENST00000422745,;ASNS,synonymous_variant,p.=,ENST00000444334,NM_001178075.1;ASNS,synonymous_variant,p.=,ENST00000437628,NM_001178077.1;ASNS,synonymous_variant,p.=,ENST00000455086,NM_001178076.1;ASNS,synonymous_variant,p.=,ENST00000442734,;ASNS,synonymous_variant,p.=,ENST00000437657,;ASNS,downstream_gene_variant,,ENST00000414884,;ASNS,downstream_gene_variant,,ENST00000448127,;ASNS,downstream_gene_variant,,ENST00000453600,;ASNS,downstream_gene_variant,,ENST00000451771,;ASNS,synonymous_variant,p.=,ENST00000454046,;ASNS,non_coding_transcript_exon_variant,,ENST00000495255,;	C	ENST00000175506	Transcript	synonymous_variant	955/2356	426/1686	142/561	V	gtC/gtG		1		-1	ASNS	HGNC	HGNC:753	protein_coding	YES	CCDS5652.1	ENSP00000175506	P08243		UPI0000169F55	NM_183356.3			5/14		PROSITE_profiles:PS51278,hmmpanther:PTHR11772:SF2,hmmpanther:PTHR11772,Pfam_domain:PF13537,TIGRFAM_domain:TIGR01536,Gene3D:3.60.20.10,Superfamily_domains:SSF56235																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	99	97864320	97864320	G	C	1	0	0	0	0	0	0	0	1	1195	1277	45	4		4	ASNS	7	97864320	Silent	SNP	G	C3N-02423_TP	10682992	97864320	61481653	187	31106											
NYAP1	0	.	GRCh38	chr7	100493849	100493849	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacccgagccccgcaagtcCggcaccccgccctgccgccg	5	2	12	22	6	0	0	0	0	0	0	1	2	1	1	9	2	2	2	9	2	1	0	rs776885960		C3N-02423_TP	C3N-02423_NB	C	C																c.2472C>A	p.=	p.S824S	ENST00000300179	7/7	103	91	12	98	98	0	strelka-varscan	NYAP1,synonymous_variant,p.=,ENST00000300179,NM_173564.3;NYAP1,synonymous_variant,p.=,ENST00000454988,;NYAP1,non_coding_transcript_exon_variant,,ENST00000496985,;NYAP1,non_coding_transcript_exon_variant,,ENST00000489641,;	A	ENST00000300179	Transcript	synonymous_variant	2631/3581	2472/2526	824/841	S	tcC/tcA	rs776885960	1		1	NYAP1	HGNC	HGNC:22009	protein_coding	YES	CCDS5696.1	ENSP00000300179	Q6ZVC0		UPI00001C0A2E	NM_173564.3			7/7		Pfam_domain:PF15452,hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF2																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	99	100493849	100493849	C	A	1	0	0	0	0	0	0	0	1	10872	639	23	1		1	NYAP1	7	100493849	Silent	SNP	C	C3N-02423_TP	2629529	100493849	58852124	188	31107											
MUC17	0	.	GRCh38	chr7	101032868	101032868	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccaaaactcaggtgacCacttctactgaagccagttc	12	9	7	13	0	2	2	1	2	1	0	4	3	3	2	3	1	3	1	3	1	4	3	rs760837383		C3N-02423_TP	C3N-02423_NB	C	C																c.1452C>A	p.=	p.T484T	ENST00000306151	3/13	252	214	38	293	293	0	strelka-varscan	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,synonymous_variant,p.=,ENST00000379439,;	A	ENST00000306151	Transcript	synonymous_variant	1516/14247	1452/13482	484/4493	T	acC/acA	rs760837383	1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1			3/13		Low_complexity_(Seg):seg,hmmpanther:PTHR37999,hmmpanther:PTHR37999:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	101032868	101032868	C	A	1	0	0	0	0	0	0	0	1	9973	581	21	2		2	MUC17	7	101032868	Silent	SNP	C	C3N-02423_TP	539019	101032868	58313105	189	31108											
MOGAT3	0	.	GRCh38	chr7	101196015	101196015	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctcgaagagctgctcCagggccgtcatgtagagggc	7	8	14	12	2	1	2	1	0	0	2	4	3	3	2	3	2	3	4	3	2	2	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.957G>T	p.=	p.L319L	ENST00000223114	7/7	270	229	41	185	185	0	strelka-varscan	MOGAT3,stop_gained,p.Gly252Ter,ENST00000379423,NM_001287147.1;MOGAT3,synonymous_variant,p.=,ENST00000223114,NM_178176.3;MOGAT3,3_prime_UTR_variant,,ENST00000440203,;	A	ENST00000223114	Transcript	synonymous_variant	1124/2132	957/1026	319/341	L	ctG/ctT		1		-1	MOGAT3	HGNC	HGNC:23249	protein_coding	YES	CCDS5714.1	ENSP00000223114	Q86VF5		UPI00000622D1	NM_178176.3			7/7		Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF23																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	101196015	101196015	C	A	1	0	0	0	0	0	0	0	1	9659	603	21	2		2	MOGAT3	7	101196015	Silent	SNP	C	C3N-02423_TP	163147	101196015	58149958	190	31109											
PAX4	0	.	GRCh38	chr7	127613763	127613763	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcccagcacctttctcCagtgcctctgcttggcttgg	4	11	9	17	0	2	0	0	0	2	0	3	0	2	0	5	2	4	3	5	2	0	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.531G>T	p.=	p.L177L	ENST00000341640	4/9	314	279	35	341	340	1	strelka-varscan-mutect	PAX4,synonymous_variant,p.=,ENST00000341640,NM_006193.2;PAX4,synonymous_variant,p.=,ENST00000463946,;PAX4,synonymous_variant,p.=,ENST00000611453,;PAX4,synonymous_variant,p.=,ENST00000378740,;PAX4,synonymous_variant,p.=,ENST00000338516,;PAX4,synonymous_variant,p.=,ENST00000483494,;PAX4,non_coding_transcript_exon_variant,,ENST00000477423,;	A	ENST00000341640	Transcript	synonymous_variant	737/2010	531/1032	177/343	L	ctG/ctT		1		-1	PAX4	HGNC	HGNC:8618	protein_coding	YES	CCDS5797.1	ENSP00000339906	O43316		UPI000013C824	NM_006193.2			4/9		PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF14,hmmpanther:PTHR24329,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	127613763	127613763	C	A	1	0	0	0	0	0	0	0	1	11566	581	21	2		2	PAX4	7	127613763	Silent	SNP	C	C3N-02423_TP	26417748	127613763	31732210	191	31110											
CALU	0	.	GRCh38	chr7	128754643	128754643	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgacaatgttgaaaaccaAtggcaggagtttgatatgaa	16	11	10	4	0	0	4	0	4	0	0	0	5	0	5	1	2	1	3	1	2	7	4	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.360A>G	p.=	p.Q120Q	ENST00000542996	4/8	258	220	38	184	184	0	strelka-varscan-mutect	CALU,synonymous_variant,p.=,ENST00000542996,NM_001199672.1;CALU,synonymous_variant,p.=,ENST00000449187,NM_001130674.2;CALU,intron_variant,,ENST00000249364,NM_001219.4;CALU,intron_variant,,ENST00000535011,NM_001199673.1;CALU,intron_variant,,ENST00000479257,NM_001199671.1;CALU,upstream_gene_variant,,ENST00000493278,;	G	ENST00000542996	Transcript	synonymous_variant	1303/4225	360/972	120/323	Q	caA/caG		1		1	CALU	HGNC	HGNC:1458	protein_coding	YES	CCDS56507.1	ENSP00000438248	O43852		UPI0001D27CDB	NM_001199672.1			4/8		Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR10827,hmmpanther:PTHR10827:SF34,SMART_domains:SM00054,Superfamily_domains:SSF47473																	LOW	1	SNV	1			1										PASS		rs1469371528	.												G	2	3	99	128754643	128754643	A	G	1	0	0	0	0	0	0	0	1	2285	98	4	5		5	CALU	7	128754643	Silent	SNP	A	C3N-02423_TP	1140880	128754643	30591330	192	31111											
PLXNA4	0	.	GRCh38	chr7	132168414	132168414	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcttgctctgcagcacGgtcatgatgagtgaggccac	8	9	12	12	1	2	3	1	3	1	0	3	3	3	3	2	2	4	4	2	2	0	1	rs369419660		C3N-02423_TP	C3N-02423_NB	G	G																c.4176C>G	p.=	p.T1392T	ENST00000359827	22/32	130	116	14	112	112	0	strelka-varscan-mutect	PLXNA4,synonymous_variant,p.=,ENST00000359827,;PLXNA4,synonymous_variant,p.=,ENST00000321063,NM_020911.1;	C	ENST00000359827	Transcript	synonymous_variant	5139/13786	4176/5685	1392/1894	T	acC/acG	rs369419660,COSM288842,COSM288843	1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B				22/32		Pfam_domain:PF08337,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,Superfamily_domains:SSF48350											0,1,1						LOW	1	SNV	5		0,1,1	1										PASS		rs369419660	.												C	2	2	99	132168414	132168414	G	C	1	0	0	0	0	0	0	0	1	12228	1103	39	4		4	PLXNA4	7	132168414	Silent	SNP	G	C3N-02423_TP	3413771	132168414	27177559	193	31112											
PLXNA4	0	.	GRCh38	chr7	132194087	132194087	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatagagctgtgaggacCgggccatgaattcaggccga	12	7	14	8	2	1	3	1	2	0	1	1	5	1	4	3	3	1	2	3	3	3	3			C3N-02423_TP	C3N-02423_NB	C	C																c.2831G>T	p.Arg944Leu	p.R944L	ENST00000359827	14/32	123	109	14	92	92	0	strelka-varscan-mutect	PLXNA4,missense_variant,p.Arg944Leu,ENST00000359827,;PLXNA4,missense_variant,p.Arg944Leu,ENST00000321063,NM_020911.1;	A	ENST00000359827	Transcript	missense_variant	3794/13786	2831/5685	944/1894	R/L	cGg/cTg	COSM5337167,COSM5337168	1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding	YES	CCDS43646.1	ENSP00000352882	Q9HCM2	A0A024R7A6	UPI000004E55B		tolerated(0.45)		14/32		Gene3D:2.60.40.10,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF34,SMART_domains:SM00429,Superfamily_domains:SSF81296											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1057400085	.												A	3	1	99	132194087	132194087	C	A	1	0	0	0	0	1	0	0	0	12228	652	23	1		1	PLXNA4	7	132194087	Missense_Mutation	SNP	C	C3N-02423_TP	25673	132194087	27151886	194	31113											
STRA8	0	.	GRCh38	chr7	135232026	135232026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctttttcaatcaagaaatCaggctgtggcaggtaaataa	14	12	8	7	0	4	1	3	0	1	1	4	1	4	1	0	3	0	3	0	3	6	4	rs781689842		C3N-02423_TP	C3N-02423_NB	C	C																c.48C>T	p.=	p.I16I	ENST00000275764	1/9	260	240	20	270	270	0	strelka-varscan-mutect	STRA8,synonymous_variant,p.=,ENST00000275764,NM_182489.1;	T	ENST00000275764	Transcript	synonymous_variant	48/993	48/993	16/330	I	atC/atT	rs781689842	1		1	STRA8	HGNC	HGNC:30653	protein_coding	YES	CCDS5839.1	ENSP00000275764	Q7Z7C7		UPI00001A36D9	NM_182489.1			1/9		hmmpanther:PTHR35254																	LOW	1	SNV	1			1										PASS		rs781689842	.												T	2	4	99	135232026	135232026	C	T	1	0	0	0	0	0	0	0	1	15704	816	29	3		3	STRA8	7	135232026	Silent	SNP	C	C3N-02423_TP	3037939	135232026	24113947	195	31114											
MGAM2	0	.	GRCh38	chr7	142199954	142199954	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaggtgttctgggatgAtggacaaagcattggtgagt	10	10	16	5	0	1	2	0	2	1	0	1	4	1	4	1	5	1	2	1	5	1	2	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.5123A>G	p.Asp1708Gly	p.D1708G	ENST00000477922	45/48	162	142	20	146	146	0	strelka-varscan-mutect	MGAM2,missense_variant,p.Asp1708Gly,ENST00000477922,NM_001293626.1;MGAM2,non_coding_transcript_exon_variant,,ENST00000496337,;	G	ENST00000477922	Transcript	missense_variant	5177/7867	5123/7548	1708/2515	D/G	gAt/gGt		1		1	MGAM2	HGNC	HGNC:28101	protein_coding	YES	CCDS78281.1	ENSP00000420449	Q2M2H8	A0A0A6YYI8	UPI0002B8321D	NM_001293626.1	deleterious(0)		45/48		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF55																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	99	142199954	142199954	A	G	1	0	0	0	0	1	0	0	0	9500	333	12	5		5	MGAM2	7	142199954	Missense_Mutation	SNP	A	C3N-02423_TP	6967928	142199954	17146019	196	31115											
CNTNAP2	0	.	GRCh38	chr7	147300240	147300240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgaagcatcagcagttcGaactaatagtccccttcaag	14	9	8	10	1	2	2	2	1	0	1	4	3	3	2	2	0	3	3	2	0	5	4	rs777884519		C3N-02423_TP	C3N-02423_NB	G	G																c.1448G>A	p.Arg483Gln	p.R483Q	ENST00000361727	9/24	404	375	29	380	380	0	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Arg483Gln,ENST00000361727,NM_014141.5;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636870,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637694,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637825,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,;	A	ENST00000361727	Transcript	missense_variant	1966/9896	1448/3996	483/1331	R/Q	cGa/cAa	rs777884519,COSM1086966	1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	tolerated(0.68)		9/24		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF644,SMART_domains:SM00282,Superfamily_domains:SSF49899											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs777884519	.												A	3	1	99	147300240	147300240	G	A	1	0	0	0	0	1	0	0	0	3428	1058	37	1		1	CNTNAP2	7	147300240	Missense_Mutation	SNP	G	C3N-02423_TP	5100286	147300240	12045733	197	31116											
NOS3	0	.	GRCh38	chr7	150995230	150995230	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctccccgctaacccagccCccagaggggcccaagttccc	8	4	9	20	1	0	1	0	0	0	1	2	1	2	1	7	2	3	3	7	2	2	2			C3N-02423_TP	C3N-02423_NB	C	C																c.186C>T	p.=	p.P62P	ENST00000297494	3/27	99	84	15	109	109	0	strelka-varscan-mutect	NOS3,synonymous_variant,p.=,ENST00000297494,NM_000603.4;NOS3,synonymous_variant,p.=,ENST00000484524,NM_001160111.1;NOS3,synonymous_variant,p.=,ENST00000467517,NM_001160109.1,NM_001160110.1;NOS3,5_prime_UTR_variant,,ENST00000461406,;	T	ENST00000297494	Transcript	synonymous_variant	543/4388	186/3612	62/1203	P	ccC/ccT	COSM4904828	1		1	NOS3	HGNC	HGNC:7876	protein_coding	YES	CCDS5912.1	ENSP00000297494	P29474		UPI000013E417	NM_000603.4			3/27		PIRSF_domain:PIRSF000333											1						LOW	1	SNV	1		1	1										PASS		rs1048775049	.												T	2	4	99	150995230	150995230	C	T	1	0	0	0	0	0	0	0	1	10589	610	22	3		3	NOS3	7	150995230	Silent	SNP	C	C3N-02423_TP	3694990	150995230	8350743	198	31117											
ABCF2	0	.	GRCh38	chr7	151224098	151224098	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacgcttcccaatagcagaGagcagcatggactttcctga	11	9	9	12	1	1	2	1	1	0	1	3	4	3	3	2	1	3	4	2	1	2	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.384C>G	p.=	p.L128L	ENST00000222388	4/16	410	387	23	378	378	0	strelka-varscan-mutect	ABCF2,synonymous_variant,p.=,ENST00000287844,NM_007189.2;ABCF2,synonymous_variant,p.=,ENST00000222388,NM_005692.4;ABCF2,synonymous_variant,p.=,ENST00000468073,;ABCF2,synonymous_variant,p.=,ENST00000441774,;ABCF2,upstream_gene_variant,,ENST00000473874,;ABCF2,downstream_gene_variant,,ENST00000477252,;	C	ENST00000222388	Transcript	synonymous_variant	430/2185	384/1905	128/634	L	ctC/ctG		1		-1	ABCF2	HGNC	HGNC:71	protein_coding	YES	CCDS5922.1	ENSP00000222388	Q9UG63	A0A090N7Y2	UPI000004C4C9	NM_005692.4			4/16		PROSITE_profiles:PS50893,hmmpanther:PTHR19211,hmmpanther:PTHR19211:SF15,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	99	151224098	151224098	G	C	1	0	0	0	0	0	0	0	1	70	929	33	4		4	ABCF2	7	151224098	Silent	SNP	G	C3N-02423_TP	228868	151224098	8121875	199	31118											
CSMD1	0	.	GRCh38	chr8	3188895	3188895	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaaggactcacctgaattcCcgagccctccgtaactatga	11	9	7	14	2	2	2	2	2	0	0	4	4	4	3	4	1	2	1	4	1	4	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.5518G>T	p.Gly1840Ter	p.G1840*	ENST00000520002	36/71	112	93	19	83	83	0	strelka-mutect	CSMD1,stop_gained,p.Gly1701Ter,ENST00000537824,;CSMD1,stop_gained,p.Gly1320Ter,ENST00000335551,;CSMD1,stop_gained,p.Gly1840Ter,ENST00000520002,;CSMD1,stop_gained,p.Gly1840Ter,ENST00000602557,;CSMD1,stop_gained,p.Gly1839Ter,ENST00000635120,NM_033225.5;CSMD1,stop_gained,p.Gly1840Ter,ENST00000400186,;CSMD1,stop_gained,p.Gly1840Ter,ENST00000602723,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;	A	ENST00000520002	Transcript	stop_gained	6074/11740	5518/10698	1840/3565	G/*	Gga/Tga		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB				36/71		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	99	3188895	3188895	C	A	1	0	0	0	0	0	1	0	0	3745	632	22	2		2	CSMD1	8	3188895	Nonsense_Mutation	SNP	C	C3N-02423_TP		3188895	141949741	200	31119											
USP17L4	0	.	GRCh38	chr8	7338044	7338044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagccatacatgtctcagcaGaacacaggacctcttgtcta	12	9	7	13	0	3	1	1	0	3	1	4	2	3	2	2	1	4	1	2	1	3	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.930G>C	p.Gln310His	p.Q310H	ENST00000526929	1/1	202	190	12	218	218	0	varscan-mutect	USP17L4,missense_variant,p.Gln310His,ENST00000526929,NM_001256874.1;USP17L1,downstream_gene_variant,,ENST00000529559,NM_001256873.1;FAM66B,intron_variant,,ENST00000606573,;FAM66B,intron_variant,,ENST00000529456,;AC130360.8,upstream_gene_variant,,ENST00000425489,;	C	ENST00000526929	Transcript	missense_variant	930/1593	930/1593	310/530	Q/H	caG/caC		1		1	USP17L4	HGNC	HGNC:37176	protein_coding	YES	CCDS78299.1	ENSP00000485243	A6NCW7		UPI0000251F84	NM_001256874.1	tolerated(0.05)		1/1		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF511,Superfamily_domains:SSF54001																	MODERATE		SNV				1										PASS		rs1477246501	.												C	3	2	99	7338044	7338044	G	C	1	0	0	0	0	1	0	0	0	17588	933	33	4		4	USP17L4	8	7338044	Missense_Mutation	SNP	G	C3N-02423_TP	4149149	7338044	137800592	201	31120											
XKR6	0	.	GRCh38	chr8	11200616	11200616	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggtggatgaccgactGccagatccacacggagaggc	11	4	14	12	2	0	3	0	1	0	2	1	6	1	4	3	4	2	1	3	4	0	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.724C>T	p.Gln242Ter	p.Q242*	ENST00000416569	1/3	72	59	13	94	94	0	strelka-varscan-mutect	XKR6,stop_gained,p.Gln242Ter,ENST00000416569,NM_173683.3;XKR6,stop_gained,p.Gln242Ter,ENST00000297303,;AF131215.8,upstream_gene_variant,,ENST00000602443,;XKR6,stop_gained,p.Gln74Ter,ENST00000529336,;	A	ENST00000416569	Transcript	stop_gained	751/3382	724/1926	242/641	Q/*	Cag/Tag		1		-1	XKR6	HGNC	HGNC:27806	protein_coding	YES	CCDS5978.2	ENSP00000416707	Q5GH73		UPI00004C7A9D	NM_173683.3			1/3		Pfam_domain:PF09815,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF7																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	99	11200616	11200616	G	A	1	0	0	0	0	0	1	0	0	17994	1328	46	3		3	XKR6	8	11200616	Nonsense_Mutation	SNP	G	C3N-02423_TP	3862572	11200616	133938020	202	31121											
DLC1	0	.	GRCh38	chr8	13499885	13499885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgatccatgacagcagtCaggtagtgaaacacacttct	12	10	8	11	0	3	3	1	3	2	0	4	3	4	3	1	1	2	2	1	1	2	2			C3N-02423_TP	C3N-02423_NB	C	C																c.187G>A	p.Asp63Asn	p.D63N	ENST00000276297	2/18	219	207	12	278	278	0	strelka-varscan-mutect	DLC1,missense_variant,p.Asp63Asn,ENST00000276297,NM_182643.2;DLC1,missense_variant,p.Asp63Asn,ENST00000511869,NM_024767.3;DLC1,missense_variant,p.Asp63Asn,ENST00000316609,;DLC1,missense_variant,p.Asp63Asn,ENST00000631382,;DLC1,upstream_gene_variant,,ENST00000517868,;DLC1,non_coding_transcript_exon_variant,,ENST00000517333,;	T	ENST00000276297	Transcript	missense_variant	597/7447	187/4587	63/1528	D/N	Gac/Aac	COSM4849445,COSM4849446,COSM4849447	1		-1	DLC1	HGNC	HGNC:2897	protein_coding	YES	CCDS5989.1	ENSP00000276297	Q96QB1		UPI0000210275	NM_182643.2	deleterious_low_confidence(0)		2/18		hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF2											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		rs1217234965	.												T	3	4	99	13499885	13499885	C	T	1	0	0	0	0	1	0	0	0	4356	826	29	3		3	DLC1	8	13499885	Missense_Mutation	SNP	C	C3N-02423_TP	2299269	13499885	131638751	203	31122											
FZD3	0	.	GRCh38	chr8	28527718	28527718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagcagctgtgccaaagtggGgtagtgaagctattgagaag	12	9	15	5	0	0	2	0	2	0	1	0	3	0	2	1	2	4	4	1	2	6	4			C3N-02423_TP	C3N-02423_NB	G	G																c.958G>A	p.Gly320Ser	p.G320S	ENST00000537916	4/7	312	271	41	287	287	0	strelka-varscan-mutect	FZD3,missense_variant,p.Gly320Ser,ENST00000537916,NM_145866.1;FZD3,missense_variant,p.Gly320Ser,ENST00000240093,NM_017412.3;RNA5SP259,upstream_gene_variant,,ENST00000365541,;	A	ENST00000537916	Transcript	missense_variant	1441/13740	958/2001	320/666	G/S	Ggt/Agt	COSM1252900	1		1	FZD3	HGNC	HGNC:4041	protein_coding	YES	CCDS6069.1	ENSP00000437489	Q9NPG1		UPI000003156A	NM_145866.1	tolerated(0.57)		4/7		Pfam_domain:PF01534,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF22,SMART_domains:SM01330											1						MODERATE	1	SNV	2		1	1										PASS		.	.												A	3	1	99	28527718	28527718	G	A	1	0	0	0	0	1	0	0	0	6002	1232	43	3		3	FZD3	8	28527718	Missense_Mutation	SNP	G	C3N-02423_TP	15027833	28527718	116610918	204	31123											
CHRNA6	0	.	GRCh38	chr8	42765113	42765113	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaaagtgtaccgtgacaggGtcggaaacgttttccacagg	11	9	12	9	3	1	1	1	1	0	0	3	2	2	2	2	3	2	2	2	3	3	3			C3N-02423_TP	C3N-02423_NB	G	G																c.171C>T	p.=	p.D57D	ENST00000276410	2/6	150	120	30	188	188	0	strelka-varscan-mutect	CHRNA6,synonymous_variant,p.=,ENST00000276410,NM_004198.3;CHRNA6,synonymous_variant,p.=,ENST00000534622,NM_001199279.1;CHRNA6,5_prime_UTR_variant,,ENST00000533810,;CHRNA6,non_coding_transcript_exon_variant,,ENST00000530869,;CHRNA6,non_coding_transcript_exon_variant,,ENST00000529467,;	A	ENST00000276410	Transcript	synonymous_variant	527/2400	171/1485	57/494	D	gaC/gaT	COSM5452633	1		-1	CHRNA6	HGNC	HGNC:15963	protein_coding	YES	CCDS6135.1	ENSP00000276410	Q15825		UPI0000061DF6	NM_004198.3			2/6		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF82,TIGRFAM_domain:TIGR00860											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	99	42765113	42765113	G	A	1	0	0	0	0	0	0	0	1	3147	1252	44	3		3	CHRNA6	8	42765113	Silent	SNP	G	C3N-02423_TP	14237395	42765113	102373523	205	31124											
PXDNL	0	.	GRCh38	chr8	51408447	51408447	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtaaagaataggattgatTaatgtgtggccaaatctaaa	16	11	10	4	1	1	2	0	1	1	1	1	3	1	3	1	3	0	1	1	3	8	5	rs558871648		C3N-02423_TP	C3N-02423_NB	T	T																c.3177A>T	p.Leu1059Phe	p.L1059F	ENST00000356297	17/23	430	376	54	515	515	0	strelka-varscan-mutect	PXDNL,missense_variant,p.Leu1059Phe,ENST00000356297,NM_144651.4;PXDNL,missense_variant,p.Leu178Phe,ENST00000522933,;PXDNL,missense_variant,p.Leu325Phe,ENST00000522628,;	A	ENST00000356297	Transcript	missense_variant	3278/4805	3177/4392	1059/1463	L/F	ttA/ttT	rs558871648	1		-1	PXDNL	HGNC	HGNC:26359	protein_coding	YES	CCDS47855.1	ENSP00000348645	A1KZ92		UPI0001AE6ED6	NM_144651.4	deleterious(0.01)		17/23		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457																	MODERATE	1	SNV	1			1										PASS		rs558871648	.												A	3	1	99	51408447	51408447	T	A	1	0	0	0	0	1	0	0	0	13002	1751	61	4		4	PXDNL	8	51408447	Missense_Mutation	SNP	T	C3N-02423_TP	8643334	51408447	93730189	206	31125											
CHD7	0	.	GRCh38	chr8	60820083	60820083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgtagcacagatgaccGgggagaggtaacaggagatc	13	5	15	8	2	0	4	0	1	0	3	1	6	0	4	1	4	3	4	1	4	2	2	rs773685788		C3N-02423_TP	C3N-02423_NB	G	G																c.2690G>T	p.Arg897Leu	p.R897L	ENST00000423902	9/38	148	128	20	137	137	0	strelka-varscan-mutect	CHD7,missense_variant,p.Arg897Leu,ENST00000423902,NM_017780.3;CHD7,missense_variant,p.Arg897Leu,ENST00000525508,;CHD7,intron_variant,,ENST00000524602,;	T	ENST00000423902	Transcript	missense_variant	3169/11568	2690/8994	897/2997	R/L	cGg/cTg	rs773685788	1		1	CHD7	HGNC	HGNC:20626	protein_coding	YES	CCDS47865.1	ENSP00000392028	Q9P2D1		UPI0000251DA6	NM_017780.3	deleterious(0.03)		9/38		PROSITE_profiles:PS50013,hmmpanther:PTHR10799:SF658,hmmpanther:PTHR10799,Gene3D:2.40.50.40,Pfam_domain:PF00385,SMART_domains:SM00298,Superfamily_domains:SSF54160																	MODERATE	1	SNV	5			1										PASS		rs773685788	.												T	3	4	99	60820083	60820083	G	T	1	0	0	0	0	1	0	0	0	3089	1116	39	1		1	CHD7	8	60820083	Missense_Mutation	SNP	G	C3N-02423_TP	9411636	60820083	84318553	207	31126											
TRPA1	0	.	GRCh38	chr8	72023877	72023877	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttggtatttcttgtcttAtttccccagtgcaaaataaa	11	17	5	8	0	2	0	0	0	2	0	3	0	3	0	2	1	1	2	2	1	6	7	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.3086T>A	p.Ile1029Lys	p.I1029K	ENST00000262209	26/27	251	225	26	315	315	0	strelka-varscan-mutect	TRPA1,missense_variant,p.Ile1029Lys,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Ile881Lys,ENST00000523582,;MSC-AS1,intron_variant,,ENST00000457356,;MSC-AS1,intron_variant,,ENST00000522519,;MSC-AS1,intron_variant,,ENST00000518916,;MSC-AS1,intron_variant,,ENST00000519751,;MSC-AS1,intron_variant,,ENST00000524152,;MSC-AS1,intron_variant,,ENST00000519068,;TRPA1,upstream_gene_variant,,ENST00000520596,;	T	ENST00000262209	Transcript	missense_variant	3294/5223	3086/3360	1029/1119	I/K	aTa/aAa		1		-1	TRPA1	HGNC	HGNC:497	protein_coding	YES	CCDS34908.1	ENSP00000262209	O75762		UPI000021081A	NM_007332.2	tolerated(0.78)		26/27		hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	72023877	72023877	A	T	1	0	0	0	0	1	0	0	0	17082	449	16	4		4	TRPA1	8	72023877	Missense_Mutation	SNP	A	C3N-02423_TP	11203794	72023877	73114759	208	31127											
TRPA1	0	.	GRCh38	chr8	72025976	72025976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgaataacatcccaccaGatctgggtttgttgggatac	11	12	9	9	1	1	1	0	0	1	1	2	3	2	2	2	2	3	2	2	2	4	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.3035C>A	p.Ser1012Tyr	p.S1012Y	ENST00000262209	25/27	424	366	58	369	369	0	strelka-varscan-mutect	TRPA1,missense_variant,p.Ser1012Tyr,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Ser864Tyr,ENST00000523582,;MSC-AS1,intron_variant,,ENST00000457356,;MSC-AS1,intron_variant,,ENST00000522519,;MSC-AS1,intron_variant,,ENST00000518916,;MSC-AS1,intron_variant,,ENST00000519751,;MSC-AS1,intron_variant,,ENST00000524152,;MSC-AS1,intron_variant,,ENST00000519068,;MSC-AS1,upstream_gene_variant,,ENST00000512290,;TRPA1,upstream_gene_variant,,ENST00000520596,;	T	ENST00000262209	Transcript	missense_variant	3243/5223	3035/3360	1012/1119	S/Y	tCt/tAt		1		-1	TRPA1	HGNC	HGNC:497	protein_coding	YES	CCDS34908.1	ENSP00000262209	O75762		UPI000021081A	NM_007332.2	tolerated(1)		25/27		hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	72025976	72025976	G	T	1	0	0	0	0	1	0	0	0	17082	942	33	2		2	TRPA1	8	72025976	Missense_Mutation	SNP	G	C3N-02423_TP	2099	72025976	73112660	209	31128											
PSKH2	0	.	GRCh38	chr8	86069616	86069616	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcctgctggcgccgcAccccatacccgcaacacgcc	7	5	7	22	4	0	0	0	0	0	0	1	0	1	0	7	1	3	3	7	1	2	2	rs777827063		C3N-02423_TP	C3N-02423_NB	A	A																c.7T>C	p.Cys3Arg	p.C3R	ENST00000276616	1/3	79	70	9	84	84	0	strelka-mutect	PSKH2,missense_variant,p.Cys3Arg,ENST00000276616,NM_033126.1;ATP6V0D2,intron_variant,,ENST00000521564,;ATP6V0D2,upstream_gene_variant,,ENST00000523635,;PSKH2,intron_variant,,ENST00000517981,;PSKH2,intron_variant,,ENST00000523010,;	G	ENST00000276616	Transcript	missense_variant	82/1322	7/1158	3/385	C/R	Tgc/Cgc	rs777827063	1		-1	PSKH2	HGNC	HGNC:18997	protein_coding	YES	CCDS6240.1	ENSP00000276616	Q96QS6		UPI000006F951	NM_033126.1	deleterious_low_confidence(0)		1/3		hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF255																	MODERATE	1	SNV	1			1										PASS		rs777827063	.												G	3	3	99	86069616	86069616	A	G	1	0	0	0	0	1	0	0	0	12816	159	6	5		5	PSKH2	8	86069616	Missense_Mutation	SNP	A	C3N-02423_TP	14043640	86069616	59069020	210	31129											
FAM92A1	0	.	GRCh38	chr8	93701342	93701342	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggctgagagacaaagcaGacctcctggtgaatgaaatt	14	7	11	9	0	0	5	0	3	0	2	1	6	1	5	3	2	1	2	3	2	3	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.145G>C	p.Asp49His	p.D49H	ENST00000518322	2/9	387	355	32	390	390	0	varscan-mutect	FAM92A1,missense_variant,p.Asp49His,ENST00000518322,NM_145269.4;FAM92A1,missense_variant,p.Asp49His,ENST00000522324,;FAM92A1,missense_variant,p.Asp49His,ENST00000620645,;FAM92A1,missense_variant,p.Asp49His,ENST00000423990,NM_001283034.1;FAM92A1,missense_variant,p.Asp49His,ENST00000522803,;FAM92A1,missense_variant,p.Asp60His,ENST00000523453,;FAM92A1,5_prime_UTR_variant,,ENST00000520955,;FAM92A1,5_prime_UTR_variant,,ENST00000523475,;FAM92A1,5_prime_UTR_variant,,ENST00000518829,;FAM92A1,upstream_gene_variant,,ENST00000517718,;FAM92A1,upstream_gene_variant,,ENST00000521641,;FAM92A1,upstream_gene_variant,,ENST00000519135,;LINC00535,upstream_gene_variant,,ENST00000501400,;FAM92A1,missense_variant,p.Asp49His,ENST00000518116,;FAM92A1,missense_variant,p.Asp49His,ENST00000452913,;FAM92A1,missense_variant,p.Asp49His,ENST00000359421,;FAM92A1,missense_variant,p.Asp49His,ENST00000520937,;FAM92A1,non_coding_transcript_exon_variant,,ENST00000523577,;	C	ENST00000518322	Transcript	missense_variant	286/4241	145/870	49/289	D/H	Gac/Cac		1		1	FAM92A1	HGNC	HGNC:30452	protein_coding	YES	CCDS47892.1	ENSP00000429367	A1XBS5		UPI000156FA8B	NM_145269.4	deleterious(0)		2/9		hmmpanther:PTHR21223:SF4,hmmpanther:PTHR21223,Pfam_domain:PF06730,Superfamily_domains:SSF103657																	MODERATE		SNV	5			1										PASS		.	.												C	3	2	99	93701342	93701342	G	C	1	0	0	0	0	1	0	0	0	5510	942	33	4		4	FAM92A1	8	93701342	Missense_Mutation	SNP	G	C3N-02423_TP	7631726	93701342	51437294	211	31130											
CSMD3	0	.	GRCh38	chr8	112383612	112383612	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgttgtctcccccatcatAaaagtccagagaatcccaat	13	11	5	12	0	2	1	1	0	1	1	5	2	4	1	4	0	0	1	4	0	4	3	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.5986T>C	p.Tyr1996His	p.Y1996H	ENST00000297405	37/71	421	362	59	380	379	1	strelka-varscan-mutect	CSMD3,missense_variant,p.Tyr1996His,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Tyr1956His,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Tyr1892His,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Tyr1266His,ENST00000339701,;	G	ENST00000297405	Transcript	missense_variant	6231/13212	5986/11124	1996/3707	Y/H	Tat/Cat		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	tolerated(0.16)		37/71		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	112383612	112383612	A	G	1	0	0	0	0	1	0	0	0	3747	362	13	5		5	CSMD3	8	112383612	Missense_Mutation	SNP	A	C3N-02423_TP	18682270	112383612	32755024	212	31131											
EXT1	0	.	GRCh38	chr8	118110340	118110340	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatgatccttagaaaagAggggaatagaaacatcaaag	18	7	12	4	0	1	4	1	1	0	3	2	6	2	6	1	3	1	0	1	3	7	2	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.707T>G	p.Leu236Arg	p.L236R	ENST00000378204	1/11	407	338	69	412	412	0	strelka-varscan-mutect	EXT1,missense_variant,p.Leu236Arg,ENST00000378204,NM_000127.2;EXT1,missense_variant,p.Leu26Arg,ENST00000436216,;EXT1,intron_variant,,ENST00000437196,;	C	ENST00000378204	Transcript	missense_variant	1514/8270	707/2241	236/746	L/R	cTc/cGc		1		-1	EXT1	HGNC	HGNC:3512	protein_coding	YES	CCDS6324.1	ENSP00000367446	Q16394		UPI000012A3A1	NM_000127.2	deleterious(0.01)		1/11		Pfam_domain:PF03016,hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF97																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	118110340	118110340	A	C	1	0	0	0	0	1	0	0	0	5191	304	11	5		5	EXT1	8	118110340	Missense_Mutation	SNP	A	C3N-02423_TP	5726728	118110340	27028296	213	31132											
HAS2	0	.	GRCh38	chr8	121628831	121628831	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagaccaattgcgttacGtgttgcgagctttctttatg	9	14	10	8	3	1	1	0	0	1	1	1	3	1	1	1	0	4	3	1	0	4	6	rs373683528		C3N-02423_TP	C3N-02423_NB	G	G																c.510C>T	p.=	p.H170H	ENST00000303924	2/4	433	405	28	462	462	0	strelka-varscan-mutect	HAS2,synonymous_variant,p.=,ENST00000303924,NM_005328.2;	A	ENST00000303924	Transcript	synonymous_variant	1048/4190	510/1659	170/552	H	caC/caT	rs373683528	1		-1	HAS2	HGNC	HGNC:4819	protein_coding	YES	CCDS6335.1	ENSP00000306991	Q92819		UPI000012C0A9	NM_005328.2			2/4		Gene3D:3.90.550.10,hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF7																	LOW	1	SNV	1			1										PASS		rs373683528	.												A	2	1	99	121628831	121628831	G	A	1	0	0	0	0	0	0	0	1	6848	1136	40	1		1	HAS2	8	121628831	Silent	SNP	G	C3N-02423_TP	3518491	121628831	23509805	214	31133											
KLHL38	0	.	GRCh38	chr8	123651899	123651899	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccagactcctccctgagCtgacagccatgccccccagc	8	6	8	19	0	0	4	0	3	0	1	2	4	2	4	7	0	4	1	7	0	0	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1028G>C	p.Ser343Thr	p.S343T	ENST00000325995	1/3	238	201	37	273	273	0	strelka-varscan-mutect	KLHL38,missense_variant,p.Ser343Thr,ENST00000325995,NM_001081675.2;CTD-2552K11.2,intron_variant,,ENST00000524355,;	G	ENST00000325995	Transcript	missense_variant	1052/1982	1028/1746	343/581	S/T	aGc/aCc		1		-1	KLHL38	HGNC	HGNC:34435	protein_coding	YES	CCDS43766.1	ENSP00000321475	Q2WGJ6		UPI00001D82D1	NM_001081675.2	tolerated(0.38)		1/3		hmmpanther:PTHR24412:SF8,hmmpanther:PTHR24412,PIRSF_domain:PIRSF037037,Gene3D:1zgkA00,SMART_domains:SM00612,Superfamily_domains:0052715																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	123651899	123651899	C	G	1	0	0	0	0	1	0	0	0	8256	797	28	4		4	KLHL38	8	123651899	Missense_Mutation	SNP	C	C3N-02423_TP	2023068	123651899	21486737	215	31134											
ZFAT	0	.	GRCh38	chr8	134532844	134532844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcgcctaccttgctggatGagcacctccgctgccagctc	5	9	9	18	2	0	1	0	1	0	0	3	2	1	2	6	1	5	4	6	1	1	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.3105C>T	p.=	p.L1035L	ENST00000377838	12/16	160	152	8	169	169	0	strelka-varscan-mutect	ZFAT,synonymous_variant,p.=,ENST00000520727,NM_001029939.3,NM_001289394.1;ZFAT,synonymous_variant,p.=,ENST00000377838,NM_020863.3;ZFAT,synonymous_variant,p.=,ENST00000429442,;ZFAT,synonymous_variant,p.=,ENST00000520214,NM_001167583.2;ZFAT,synonymous_variant,p.=,ENST00000520356,NM_001174158.1;ZFAT,synonymous_variant,p.=,ENST00000523399,NM_001174157.1;ZFAT,non_coding_transcript_exon_variant,,ENST00000517307,;ZFAT,3_prime_UTR_variant,,ENST00000523243,;ZFAT,3_prime_UTR_variant,,ENST00000523924,;ZFAT,non_coding_transcript_exon_variant,,ENST00000518408,;	A	ENST00000377838	Transcript	synonymous_variant	3280/4597	3105/3732	1035/1243	L	ctC/ctT		1		-1	ZFAT	HGNC	HGNC:19899	protein_coding	YES	CCDS47924.1	ENSP00000367069	Q9P243		UPI0000210061	NM_020863.3			12/16		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF218																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	134532844	134532844	G	A	1	0	0	0	0	0	0	0	1	18209	1277	45	3		3	ZFAT	8	134532844	Silent	SNP	G	C3N-02423_TP	10880945	134532844	10605792	216	31135											
FAM135B	0	.	GRCh38	chr8	138139097	138139097	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgcatgagccataagcCtaggaagacaaaaacaaaat	18	8	7	8	0	1	2	0	1	1	1	1	3	1	3	2	1	4	1	2	1	7	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.3791-1G>T		p.X1264_splice	ENST00000395297		194	181	13	150	149	1	strelka-mutect	FAM135B,splice_acceptor_variant,,ENST00000395297,NM_015912.3;FAM135B,splice_acceptor_variant,,ENST00000482951,;FAM135B,splice_acceptor_variant,,ENST00000276737,;FAM135B,downstream_gene_variant,,ENST00000467365,;FAM135B,downstream_gene_variant,,ENST00000395295,;	A	ENST00000395297	Transcript	splice_acceptor_variant	-/6962	3791/4221	1264/1406				1		-1	FAM135B	HGNC	HGNC:28029	protein_coding	YES	CCDS6375.2	ENSP00000378710	Q49AJ0		UPI000057A0DB	NM_015912.3				17/19																		HIGH	1	SNV	5			1										PASS		.	.												A	5	1	99	138139097	138139097	C	A	1	0	0	0	0	0	0	1	0	5299	695	24	2		2	FAM135B	8	138139097	Splice_Site	SNP	C	C3N-02423_TP	3606253	138139097	6999539	217	31136											
TAF1L	0	.	GRCh38	chr9	32631682	32631682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatttgtttgataatagaGggggcagaatttgttagtcc	11	14	11	5	0	0	3	0	1	0	2	1	3	1	3	1	2	0	3	1	2	4	6	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.3898C>T	p.Leu1300Phe	p.L1300F	ENST00000242310	1/1	611	424	187	577	577	0	strelka-varscan-mutect	TAF1L,missense_variant,p.Leu1300Phe,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;	A	ENST00000242310	Transcript	missense_variant	3988/6216	3898/5481	1300/1826	L/F	Ctc/Ttc		1		-1	TAF1L	HGNC	HGNC:18056	protein_coding	YES	CCDS35003.1	ENSP00000418379	Q8IZX4		UPI000007408A	NM_153809.2	deleterious(0.01)		1/1		Pfam_domain:PF15288,PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0																	MODERATE		SNV				1										PASS		.	.												A	3	1	99	32631682	32631682	G	A	1	0	0	0	0	1	0	0	0	15919	1000	35	3		3	TAF1L	9	32631682	Missense_Mutation	SNP	G	C3N-02423_TP		32631682	105763035	218	31137											
TMEM8B	0	.	GRCh38	chr9	35853525	35853525	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagtacgcagcgtccgccgCcggcactgctacccacccac	8	4	9	20	5	0	0	0	0	0	0	1	0	1	0	5	1	4	4	5	1	2	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1104C>T	p.=	p.R368R	ENST00000377988	13/13	148	139	9	89	89	0	strelka-varscan-mutect	TMEM8B,synonymous_variant,p.=,ENST00000377988,NM_001042590.2;TMEM8B,synonymous_variant,p.=,ENST00000377991,NM_001042589.2;	T	ENST00000377988	Transcript	synonymous_variant	2410/3731	1104/1419	368/472	R	cgC/cgT		1		1	TMEM8B	HGNC	HGNC:21427	protein_coding	YES	CCDS43800.1	ENSP00000367227	A6NDV4		UPI00002113B9	NM_001042590.2			13/13		Pfam_domain:PF12036,hmmpanther:PTHR14319,hmmpanther:PTHR14319:SF6																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	35853525	35853525	C	T	1	0	0	0	0	0	0	0	1	16692	726	26	3		3	TMEM8B	9	35853525	Silent	SNP	C	C3N-02423_TP	3221843	35853525	102541192	219	31138											
TMC1	0	.	GRCh38	chr9	72754876	72754876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactttggtgtgttgtacGacttcaatgtaagtgtctcc	9	15	9	8	1	2	0	1	0	1	0	3	1	2	0	1	1	2	3	1	1	4	5			C3N-02423_TP	C3N-02423_NB	G	G																c.733G>T	p.Asp245Tyr	p.D245Y	ENST00000297784	12/24	536	495	41	479	477	2	strelka-varscan-mutect	TMC1,missense_variant,p.Asp245Tyr,ENST00000297784,NM_138691.2;TMC1,missense_variant,p.Asp245Tyr,ENST00000340019,;	T	ENST00000297784	Transcript	missense_variant	1273/3201	733/2283	245/760	D/Y	Gac/Tac	COSM4557557	1		1	TMC1	HGNC	HGNC:16513	protein_coding	YES	CCDS6643.1	ENSP00000297784	Q8TDI8		UPI0000161FA9	NM_138691.2	deleterious(0.02)		12/24		hmmpanther:PTHR23302:SF18,hmmpanther:PTHR23302											1						MODERATE	1	SNV	1		1	1										PASS		rs1469818234	.												T	3	4	99	72754876	72754876	G	T	1	0	0	0	0	1	0	0	0	16430	1058	37	1		1	TMC1	9	72754876	Missense_Mutation	SNP	G	C3N-02423_TP	36901351	72754876	65639841	220	31139											
PRUNE2	0	.	GRCh38	chr9	76710226	76710226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgctctttccatgattcaGggctctggaaaacagattcc	10	13	8	10	0	3	2	1	1	2	1	5	3	5	3	2	2	2	2	2	2	3	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2048C>A	p.Pro683His	p.P683H	ENST00000376718	8/19	275	251	24	283	283	0	strelka-varscan-mutect	PRUNE2,missense_variant,p.Pro683His,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Pro324His,ENST00000428286,;PRUNE2,missense_variant,p.Pro683His,ENST00000443509,NM_001308047.1,NM_001308048.1;PRUNE2,missense_variant,p.Pro5His,ENST00000426088,;	T	ENST00000376718	Transcript	missense_variant	2172/12584	2048/9267	683/3088	P/H	cCt/cAt		1		-1	PRUNE2	HGNC	HGNC:25209	protein_coding	YES	CCDS47982.1	ENSP00000365908	Q8WUY3		UPI0001612CC0	NM_015225.2	deleterious(0)		8/19																			MODERATE	1	SNV	5			1										PASS		rs1351656815	.												T	3	4	99	76710226	76710226	G	T	1	0	0	0	0	1	0	0	0	12791	1000	35	2		2	PRUNE2	9	76710226	Missense_Mutation	SNP	G	C3N-02423_TP	3955350	76710226	61684491	221	31140											
FOXB2	0	.	GRCh38	chr9	77019721	77019721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttacatctcgctgaccGccatggcaatccagcactcg	9	9	7	16	3	2	1	0	1	2	0	5	1	3	1	3	1	2	3	3	1	2	1			C3N-02423_TP	C3N-02423_NB	G	G																c.67G>T	p.Ala23Ser	p.A23S	ENST00000376708	1/1	463	431	32	439	439	0	strelka-varscan-mutect	FOXB2,missense_variant,p.Ala23Ser,ENST00000376708,NM_001013735.1;	T	ENST00000376708	Transcript	missense_variant	67/1299	67/1299	23/432	A/S	Gcc/Tcc	COSM1463029,COSM1463030,COSM1463031	1		1	FOXB2	HGNC	HGNC:23315	protein_coding	YES	CCDS35045.1	ENSP00000365898	Q5VYV0		UPI00004588EE	NM_001013735.1	deleterious(0)		1/1		PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF215,hmmpanther:PTHR11829,PROSITE_patterns:PS00657,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053											1,1,1						MODERATE	1	SNV			1,1,1	1										PASS		.	.												T	3	4	99	77019721	77019721	G	T	1	0	0	0	0	1	0	0	0	5853	1087	38	1		1	FOXB2	9	77019721	Missense_Mutation	SNP	G	C3N-02423_TP	309495	77019721	61374996	222	31141											
S1PR3	0	.	GRCh38	chr9	89002112	89002112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacacgctggccagcaaggaGatgcggcgggccttcttccg	7	7	14	13	4	1	1	0	0	1	1	2	2	2	1	3	4	3	2	3	4	2	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.912G>C	p.Glu304Asp	p.E304D	ENST00000375846	1/1	174	165	9	171	171	0	strelka-varscan-mutect	S1PR3,missense_variant,p.Glu304Asp,ENST00000375846,;S1PR3,missense_variant,p.Glu304Asp,ENST00000358157,NM_005226.3;SHC3,downstream_gene_variant,,ENST00000375835,NM_016848.5;	C	ENST00000375846	Transcript	missense_variant	5607/8505	912/1137	304/378	E/D	gaG/gaC		1		1	S1PR3	HGNC	HGNC:3167	protein_coding	YES	CCDS6680.1	ENSP00000365006	Q99500		UPI0000140B93		tolerated(0.89)		1/1		hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF24,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR01523,Prints_domain:PR00237																	MODERATE		SNV				1										PASS		.	.												C	3	2	99	89002112	89002112	G	C	1	0	0	0	0	1	0	0	0	14054	933	33	4		4	S1PR3	9	89002112	Missense_Mutation	SNP	G	C3N-02423_TP	11982391	89002112	49392605	223	31142											
CORO2A	0	.	GRCh38	chr9	98126821	98126821	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctaagggacaccaggattgGgtctggaagggaagcagagc	12	5	16	8	0	1	1	0	0	1	1	1	5	1	5	2	5	2	1	2	5	3	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1174C>G	p.Pro392Ala	p.P392A	ENST00000343933	11/12	110	96	14	151	151	0	strelka-varscan-mutect	CORO2A,missense_variant,p.Pro392Ala,ENST00000343933,NM_003389.3;CORO2A,missense_variant,p.Pro392Ala,ENST00000375077,NM_052820.3;	C	ENST00000343933	Transcript	missense_variant,splice_region_variant	1432/5635	1174/1578	392/525	P/A	Cca/Gca		1		-1	CORO2A	HGNC	HGNC:2255	protein_coding	YES	CCDS6735.1	ENSP00000343746	Q92828	A0A024R150	UPI0000127C45	NM_003389.3	deleterious(0.01)		11/12		Pfam_domain:PF16300,hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF2,SMART_domains:SM01167																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	98126821	98126821	G	C	1	0	0	0	0	1	0	0	0	3550	1246	43	4		4	CORO2A	9	98126821	Missense_Mutation	SNP	G	C3N-02423_TP	9124709	98126821	40267896	224	31143											
SMC2	0	.	GRCh38	chr9	104098487	104098487	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatatttaatcaatggagtCaatgccaacaacaccagagt	18	9	6	8	0	2	1	2	0	0	1	2	2	2	2	2	1	3	0	2	1	7	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.360C>T	p.=	p.V120V	ENST00000286398	4/25	137	126	11	137	137	0	strelka-varscan-mutect	SMC2,synonymous_variant,p.=,ENST00000286398,NM_001042551.1,NM_006444.2,NM_001265602.1;SMC2,synonymous_variant,p.=,ENST00000374793,;SMC2,synonymous_variant,p.=,ENST00000374787,NM_001042550.1;SMC2,5_prime_UTR_variant,,ENST00000440179,;	T	ENST00000286398	Transcript	synonymous_variant	664/5992	360/3594	120/1197	V	gtC/gtT		1		1	SMC2	HGNC	HGNC:14011	protein_coding	YES	CCDS35086.1	ENSP00000286398	O95347	A0A024R158	UPI000013DE44	NM_001042551.1,NM_006444.2,NM_001265602.1			4/25		Gene3D:3.40.50.300,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF9,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	104098487	104098487	C	T	1	0	0	0	0	0	0	0	1	15076	813	29	3		3	SMC2	9	104098487	Silent	SNP	C	C3N-02423_TP	5971666	104098487	34296230	225	31144											
OR13C5	0	.	GRCh38	chr9	104598732	104598732	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcccctccgaagagctaaTtttgaagatgctcaaaatga	13	11	7	10	1	2	4	1	2	1	2	4	5	3	4	3	0	2	2	3	0	5	3			C3N-02423_TP	C3N-02423_NB	T	T																c.682A>T	p.Ile228Phe	p.I228F	ENST00000374779	1/1	289	240	49	397	397	0	strelka-varscan-mutect	OR13C5,missense_variant,p.Ile228Phe,ENST00000374779,NM_001004482.1;	A	ENST00000374779	Transcript	missense_variant	682/957	682/957	228/318	I/F	Att/Ttt	COSM4709656	1		-1	OR13C5	HGNC	HGNC:15100	protein_coding	YES	CCDS35091.1	ENSP00000363911	Q8NGS8		UPI0000041D12	NM_001004482.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF121,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	99	104598732	104598732	T	A	1	0	0	0	0	1	0	0	0	11013	1493	52	4		4	OR13C5	9	104598732	Missense_Mutation	SNP	T	C3N-02423_TP	500245	104598732	33795985	226	31145											
FRRS1L	0	.	GRCh38	chr9	109141472	109141472	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgttctcaaaaactccttCttcatctctggcagggtttc	8	16	6	11	0	4	0	2	0	3	0	8	0	5	0	1	2	1	3	1	2	2	5	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.733G>C	p.Glu245Gln	p.E245Q	ENST00000561981	4/5	411	385	26	404	404	0	strelka-varscan-mutect	FRRS1L,missense_variant,p.Glu245Gln,ENST00000561981,NM_014334.2;	G	ENST00000561981	Transcript	missense_variant	733/8197	733/1035	245/344	E/Q	Gaa/Caa		1		-1	FRRS1L	HGNC	HGNC:1362	protein_coding	YES	CCDS35098.1	ENSP00000477141	Q9P0K9		UPI000013D040	NM_014334.2	tolerated(0.07)		4/5		PROSITE_profiles:PS50836,hmmpanther:PTHR23130,hmmpanther:PTHR23130:SF65,Pfam_domain:PF03351,SMART_domains:SM00664																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	109141472	109141472	C	G	1	0	0	0	0	1	0	0	0	5932	922	32	4		4	FRRS1L	9	109141472	Missense_Mutation	SNP	C	C3N-02423_TP	4542740	109141472	29253245	227	31146											
PTPN3	0	.	GRCh38	chr9	109463358	109463358	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgctgcaaatgacttctgatCgagttttctctttgggtaac	8	16	9	8	1	2	2	0	2	2	0	4	3	2	2	0	1	3	4	0	1	2	5	rs539799147		C3N-02423_TP	C3N-02423_NB	C	C																c.77G>C	p.Arg26Pro	p.R26P	ENST00000374541	2/26	263	246	17	237	237	0	strelka-varscan-mutect	PTPN3,missense_variant,p.Arg26Pro,ENST00000262539,;PTPN3,missense_variant,p.Arg26Pro,ENST00000374541,NM_001145368.1,NM_002829.3;	G	ENST00000374541	Transcript	missense_variant	182/6703	77/2742	26/913	R/P	cGa/cCa	rs539799147,COSM1103770	1		-1	PTPN3	HGNC	HGNC:9655	protein_coding	YES	CCDS6776.1	ENSP00000363667	P26045		UPI000013D2D2	NM_001145368.1,NM_002829.3	deleterious(0.02)		2/26		PIRSF_domain:PIRSF000927,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF309,SMART_domains:SM00295											0,1						MODERATE	1	SNV	5		0,1	1										PASS		rs539799147	.												G	3	3	99	109463358	109463358	C	G	1	0	0	0	0	1	0	0	0	12943	884	31	4		4	PTPN3	9	109463358	Missense_Mutation	SNP	C	C3N-02423_TP	321886	109463358	28931359	228	31147											
PSMB7	0	.	GRCh38	chr9	124356865	124356865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccggagcccaggtcgttGaagatgccagctgcgatggc	7	8	14	12	3	0	2	0	1	0	1	2	4	1	3	3	3	4	2	3	3	1	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.621C>T	p.=	p.F207F	ENST00000259457	7/8	236	223	13	194	194	0	strelka-varscan-mutect	PSMB7,synonymous_variant,p.=,ENST00000259457,NM_002799.3;NEK6,downstream_gene_variant,,ENST00000373600,NM_001145001.2;NEK6,downstream_gene_variant,,ENST00000320246,NM_014397.5;NEK6,downstream_gene_variant,,ENST00000373603,;NEK6,downstream_gene_variant,,ENST00000539416,NM_001166169.1;NEK6,downstream_gene_variant,,ENST00000546191,NM_001166170.1;NEK6,downstream_gene_variant,,ENST00000540326,NM_001166167.1;NEK6,downstream_gene_variant,,ENST00000545174,NM_001166168.1;NEK6,downstream_gene_variant,,ENST00000394199,NM_001166171.1;PSMB7,non_coding_transcript_exon_variant,,ENST00000498485,;	A	ENST00000259457	Transcript	synonymous_variant	635/980	621/834	207/277	F	ttC/ttT		1		-1	PSMB7	HGNC	HGNC:9544	protein_coding	YES	CCDS6855.1	ENSP00000259457	Q99436	E9KL30	UPI00001325C7	NM_002799.3			7/8		Gene3D:3.60.20.10,Pfam_domain:PF00227,Prints_domain:PR00141,PROSITE_profiles:PS51476,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF42,Superfamily_domains:SSF56235																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	124356865	124356865	G	A	1	0	0	0	0	0	0	0	1	12833	1281	45	3		3	PSMB7	9	124356865	Silent	SNP	G	C3N-02423_TP	14893507	124356865	14037852	229	31148											
CERCAM	0	.	GRCh38	chr9	128424423	128424423	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccagggctactaccgccGcacagccgagtacttcccca	8	6	8	19	3	0	0	0	0	0	0	2	1	2	0	7	1	4	3	7	1	3	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.575G>T	p.Arg192Leu	p.R192L	ENST00000372838	5/13	231	209	22	265	265	0	strelka-varscan-mutect	CERCAM,missense_variant,p.Arg114Leu,ENST00000372842,NM_001286760.1;CERCAM,missense_variant,p.Arg192Leu,ENST00000372838,NM_016174.4;CERCAM,missense_variant,p.Arg114Leu,ENST00000612334,;CERCAM,missense_variant,p.Arg114Leu,ENST00000420512,;CERCAM,upstream_gene_variant,,ENST00000613052,;CERCAM,downstream_gene_variant,,ENST00000411852,;CERCAM,downstream_gene_variant,,ENST00000420034,;CERCAM,downstream_gene_variant,,ENST00000447915,;CERCAM,non_coding_transcript_exon_variant,,ENST00000483893,;CERCAM,downstream_gene_variant,,ENST00000493788,;CERCAM,upstream_gene_variant,,ENST00000487001,;CERCAM,non_coding_transcript_exon_variant,,ENST00000463535,;CERCAM,downstream_gene_variant,,ENST00000483737,;	T	ENST00000372838	Transcript	missense_variant	973/2685	575/1788	192/595	R/L	cGc/cTc		1		1	CERCAM	HGNC	HGNC:23723	protein_coding	YES	CCDS6901.2	ENSP00000361929	Q5T4B2		UPI000046FF85	NM_016174.4	deleterious(0.01)		5/13		hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF9,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		rs1453902081	.												T	3	4	99	128424423	128424423	G	T	1	0	0	0	0	1	0	0	0	2992	1087	38	1		1	CERCAM	9	128424423	Missense_Mutation	SNP	G	C3N-02423_TP	4067558	128424423	9970294	230	31149											
ODF2	0	.	GRCh38	chr9	128469311	128469311	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaaccgttatgataagaaGattgatagtctaatgaatgc	16	12	9	4	1	1	6	0	4	1	2	1	6	1	6	1	0	2	1	1	0	7	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.378G>C	p.Lys126Asn	p.K126N	ENST00000434106	5/21	344	318	26	320	320	0	strelka-varscan-mutect	ODF2,missense_variant,p.Lys121Asn,ENST00000351030,NM_001242352.1;ODF2,missense_variant,p.Lys126Asn,ENST00000434106,NM_153433.1;ODF2,missense_variant,p.Lys102Asn,ENST00000393527,NM_002540.4,NM_153435.1;ODF2,missense_variant,p.Lys126Asn,ENST00000604420,NM_001242353.1;ODF2,missense_variant,p.Lys121Asn,ENST00000372807,;ODF2,missense_variant,p.Lys102Asn,ENST00000444119,;ODF2,missense_variant,p.Lys107Asn,ENST00000372791,NM_153437.2;ODF2,missense_variant,p.Lys170Asn,ENST00000372814,NM_153432.1,NM_153439.1;ODF2,missense_variant,p.Lys107Asn,ENST00000546203,NM_153440.1;ODF2,missense_variant,p.Lys126Asn,ENST00000393533,NM_153436.1;ODF2,missense_variant,p.Lys107Asn,ENST00000446274,;ODF2,missense_variant,p.Lys117Asn,ENST00000497812,;ODF2,intron_variant,,ENST00000448249,NM_001242354.1;ODF2,intron_variant,,ENST00000421776,;ODF2,intron_variant,,ENST00000432065,;ODF2,downstream_gene_variant,,ENST00000470061,;ODF2-AS1,intron_variant,,ENST00000420801,;ODF2,non_coding_transcript_exon_variant,,ENST00000469582,;	C	ENST00000434106	Transcript	missense_variant	741/3890	378/2490	126/829	K/N	aaG/aaC		1		1	ODF2	HGNC	HGNC:8114	protein_coding	YES	CCDS56588.1	ENSP00000403453	Q5BJF6		UPI0000211922	NM_153433.1	deleterious(0)		5/21		hmmpanther:PTHR23162,hmmpanther:PTHR23162:SF8																	MODERATE	1	SNV	1			1										PASS		rs1234955789	.												C	3	2	99	128469311	128469311	G	C	1	0	0	0	0	1	0	0	0	10905	933	33	4		4	ODF2	9	128469311	Missense_Mutation	SNP	G	C3N-02423_TP	44888	128469311	9925406	231	31150											
HMCN2	0	.	GRCh38	chr9	130305000	130305000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccgtctggctcctggtgcGaggtgaggctcatcctgctg	4	11	14	12	2	2	1	1	1	1	0	5	2	5	1	3	4	2	3	3	4	0	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1811G>A	p.Arg604Gln	p.R604Q	ENST00000624552	11/98	80	74	6	75	75	0	strelka-varscan-mutect	HMCN2,missense_variant,p.Arg604Gln,ENST00000624552,NM_001291815.1;HMCN2,upstream_gene_variant,,ENST00000611173,;	A	ENST00000624552	Transcript	missense_variant,splice_region_variant	1811/15610	1811/15180	604/5059	R/Q	cGa/cAa		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	tolerated(1)		11/98		SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	99	130305000	130305000	G	A	1	0	0	0	0	1	0	0	0	7112	1072	37	1		1	HMCN2	9	130305000	Missense_Mutation	SNP	G	C3N-02423_TP	1835689	130305000	8089717	232	31151											
DBH	0	.	GRCh38	chr9	133647861	133647861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaggacgaaacgactcctCaggcatccgcttgtactaca	11	7	8	15	3	1	0	1	0	0	0	3	3	3	1	3	2	3	3	3	2	3	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1040C>T	p.Ser347Leu	p.S347L	ENST00000393056	6/12	511	472	39	548	548	0	strelka-varscan-mutect	DBH,missense_variant,p.Ser347Leu,ENST00000393056,NM_000787.3;DBH,downstream_gene_variant,,ENST00000263611,;	T	ENST00000393056	Transcript	missense_variant	1052/2763	1040/1854	347/617	S/L	tCa/tTa		1		1	DBH	HGNC	HGNC:2689	protein_coding	YES	CCDS6977.2	ENSP00000376776	P09172		UPI0000E5D219	NM_000787.3	deleterious(0)		6/12		Gene3D:1yi9A01,hmmpanther:PTHR10157,hmmpanther:PTHR10157:SF29,Superfamily_domains:SSF49742																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	133647861	133647861	C	T	1	0	0	0	0	1	0	0	0	4050	838	29	3		3	DBH	9	133647861	Missense_Mutation	SNP	C	C3N-02423_TP	3342861	133647861	4746856	233	31152											
SARDH	0	.	GRCh38	chr9	133718950	133718950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcttacctcctcccaaaaGatggggttggcctcatagcc	9	10	8	14	0	2	1	1	0	1	1	4	1	4	1	5	3	2	1	5	3	4	3			C3N-02423_TP	C3N-02423_NB	G	G																c.1008C>G	p.Ile336Met	p.I336M	ENST00000371872	7/21	94	87	7	129	129	0	strelka-varscan-mutect	SARDH,missense_variant,p.Ile336Met,ENST00000371872,NM_007101.3;SARDH,missense_variant,p.Ile336Met,ENST00000439388,NM_001134707.1;SARDH,missense_variant,p.Ile56Met,ENST00000422262,;SARDH,missense_variant,p.Ile336Met,ENST00000427237,;SARDH,missense_variant,p.Ile247Met,ENST00000371867,;	C	ENST00000371872	Transcript	missense_variant	1266/3344	1008/2757	336/918	I/M	atC/atG	COSM238140	1		-1	SARDH	HGNC	HGNC:10536	protein_coding	YES	CCDS6978.1	ENSP00000360938	Q9UL12		UPI000006F076	NM_007101.3	deleterious(0.02)		7/21		hmmpanther:PTHR13847:SF200,hmmpanther:PTHR13847,Pfam_domain:PF01266,Gene3D:3.30.9.10,Superfamily_domains:SSF54373											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	99	133718950	133718950	G	C	1	0	0	0	0	1	0	0	0	14102	932	33	4		4	SARDH	9	133718950	Missense_Mutation	SNP	G	C3N-02423_TP	71089	133718950	4675767	234	31153											
EHMT1	0	.	GRCh38	chr9	137762816	137762816	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctacagagagcgtggaccAtgaagtaagcacgtttgttt	11	10	13	7	2	0	2	0	1	0	1	0	4	0	3	1	2	3	5	1	2	3	4	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.1643A>T	p.His548Leu	p.H548L	ENST00000460843	10/27	503	473	30	532	532	0	strelka-varscan-mutect	EHMT1,missense_variant,p.His548Leu,ENST00000460843,NM_024757.4;EHMT1,missense_variant,p.His517Leu,ENST00000637161,;EHMT1,missense_variant,p.His548Leu,ENST00000629335,;EHMT1,missense_variant,p.His510Leu,ENST00000636027,;EHMT1,missense_variant,p.His548Leu,ENST00000462484,NM_001145527.1;EHMT1,missense_variant,p.His530Leu,ENST00000637977,;EHMT1,missense_variant,p.His112Leu,ENST00000465566,;EHMT1,downstream_gene_variant,,ENST00000626066,;EHMT1,downstream_gene_variant,,ENST00000629808,;EHMT1,missense_variant,p.His167Leu,ENST00000462942,;EHMT1,3_prime_UTR_variant,,ENST00000637261,;EHMT1,3_prime_UTR_variant,,ENST00000371394,;EHMT1,3_prime_UTR_variant,,ENST00000638071,;	T	ENST00000460843	Transcript	missense_variant	1709/5137	1643/3897	548/1298	H/L	cAt/cTt		1		1	EHMT1	HGNC	HGNC:24650	protein_coding	YES	CCDS7050.2	ENSP00000417980	Q9H9B1		UPI000194EC2D	NM_024757.4	deleterious(0.04)		10/27		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF364																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	99	137762816	137762816	A	T	1	0	0	0	0	1	0	0	0	4819	231	8	4		4	EHMT1	9	137762816	Missense_Mutation	SNP	A	C3N-02423_TP	4043866	137762816	631901	235	31154											
TUBB8	0	.	GRCh38	chr10	48614	48614	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtcctcgcccgcagctcaCcgaagatgaagttgtctggc	8	8	11	14	3	2	2	1	1	1	1	4	3	3	2	3	1	1	3	3	1	2	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.277+1G>T		p.X93_splice	ENST00000568584		276	225	51	329	329	0	strelka-varscan-mutect	TUBB8,splice_donor_variant,,ENST00000568584,NM_177987.2;TUBB8,splice_donor_variant,,ENST00000561967,;TUBB8,splice_donor_variant,,ENST00000562809,;TUBB8,intron_variant,,ENST00000564130,;TUBB8,intron_variant,,ENST00000568866,;TUBB8,splice_donor_variant,,ENST00000563456,;TUBB8,missense_variant,p.Val68Leu,ENST00000567466,;FAM166AP7,downstream_gene_variant,,ENST00000416477,;	A	ENST00000568584	Transcript	splice_donor_variant	-/1790	277/1335	93/444				1		-1	TUBB8	HGNC	HGNC:20773	protein_coding	YES	CCDS7051.1	ENSP00000456206	Q3ZCM7		UPI000007238E	NM_177987.2				3/3																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	99	48614	48614	C	A	1	0	0	0	0	0	0	1	0	17271	521	18	2		2	TUBB8	10	48614	Splice_Site	SNP	C	C3N-02423_TP		48614	133748808	236	31155											
FAM171A1	0	.	GRCh38	chr10	15213089	15213089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtccgtctggtcgtctcCtcctgcaggctgggcagctg	3	10	14	14	2	2	0	0	0	2	0	6	0	4	0	3	3	2	5	3	3	0	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.2499G>A	p.=	p.E833E	ENST00000378116	8/8	107	94	13	139	139	0	strelka-varscan-mutect	FAM171A1,synonymous_variant,p.=,ENST00000378116,NM_001010924.1;FAM171A1,downstream_gene_variant,,ENST00000477161,;	T	ENST00000378116	Transcript	synonymous_variant	2506/3952	2499/2673	833/890	E	gaG/gaA		1		-1	FAM171A1	HGNC	HGNC:23522	protein_coding	YES	CCDS31154.1	ENSP00000367356	Q5VUB5		UPI00001414CA	NM_001010924.1			8/8		hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF1,Pfam_domain:PF10577																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	15213089	15213089	C	T	1	0	0	0	0	0	0	0	1	5337	680	24	3		3	FAM171A1	10	15213089	Silent	SNP	C	C3N-02423_TP	15164475	15213089	118584333	237	31156											
SKIDA1	0	.	GRCh38	chr10	21515290	21515290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaaaatttgccatgaaatGaaatggccttttcactgctg	13	12	9	7	0	1	2	1	2	0	0	1	3	1	3	2	2	2	1	2	2	4	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2533C>T	p.His845Tyr	p.H845Y	ENST00000449193	4/4	227	199	28	217	217	0	strelka-varscan-mutect	SKIDA1,missense_variant,p.His845Tyr,ENST00000449193,NM_207371.3;SKIDA1,missense_variant,p.His766Tyr,ENST00000444772,;SKIDA1,downstream_gene_variant,,ENST00000633225,;SKIDA1,downstream_gene_variant,,ENST00000487107,;	A	ENST00000449193	Transcript	missense_variant	4786/6598	2533/2727	845/908	H/Y	Cat/Tat		1		-1	SKIDA1	HGNC	HGNC:32697	protein_coding	YES	CCDS44363.1	ENSP00000410041		E9PAX1	UPI00015386B3	NM_207371.3	deleterious(0)		4/4		hmmpanther:PTHR23187:SF2,hmmpanther:PTHR23187,Pfam_domain:PF15223																	MODERATE	1	SNV	3			1										PASS		.	.												A	3	1	99	21515290	21515290	G	A	1	0	0	0	0	1	0	0	0	14620	1290	45	3		3	SKIDA1	10	21515290	Missense_Mutation	SNP	G	C3N-02423_TP	6302201	21515290	112282132	238	31157											
ZEB1	0	.	GRCh38	chr10	31510793	31510793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagaatgaagataactttaGttgctccctgtgcagttaca	14	12	8	7	0	0	3	0	1	0	2	1	3	1	3	1	0	4	4	1	0	6	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.605G>T	p.Ser202Ile	p.S202I	ENST00000361642	5/9	457	373	84	517	515	2	strelka-varscan-mutect	ZEB1,missense_variant,p.Ser185Ile,ENST00000446923,NM_001323656.1,NM_001323664.1,NM_001323657.1,NM_001323650.1,NM_001128128.2,NM_001174094.1;ZEB1,missense_variant,p.Ser202Ile,ENST00000361642,NM_001174096.1;ZEB1,missense_variant,p.Ser201Ile,ENST00000320985,NM_030751.5;ZEB1,missense_variant,p.Ser181Ile,ENST00000560721,NM_001174093.1;ZEB1,missense_variant,p.Ser134Ile,ENST00000542815,NM_001174095.1;ZEB1,missense_variant,p.Ser185Ile,ENST00000559476,;ZEB1,missense_variant,p.Ser202Ile,ENST00000424869,;ZEB1,missense_variant,p.Ser127Ile,ENST00000558440,;ZEB1,5_prime_UTR_variant,,ENST00000561212,;ZEB1,non_coding_transcript_exon_variant,,ENST00000559858,;ZEB1,non_coding_transcript_exon_variant,,ENST00000561061,;ZEB1,3_prime_UTR_variant,,ENST00000437844,NM_001323663.1,NM_001323661.1,NM_001323644.1,NM_001323649.1,NM_001323659.1,NM_001323652.1,NM_001323673.1,NM_001323662.1,NM_001323676.1,NM_001323653.1,NM_001323655.1,NM_001323645.1,NM_001323647.1,NM_001323660.1,NM_001323671.1,NM_001323638.1,NM_001323665.1,NM_001323643.1,NM_001323677.1,NM_001323641.1,NM_001323642.1,NM_001323658.1,NM_001323651.1,NM_001323672.1,NM_001323654.1;ZEB1,non_coding_transcript_exon_variant,,ENST00000488625,;ZEB1,non_coding_transcript_exon_variant,,ENST00000542879,;ZEB1,non_coding_transcript_exon_variant,,ENST00000558655,;ZEB1,non_coding_transcript_exon_variant,,ENST00000561304,;ZEB1,non_coding_transcript_exon_variant,,ENST00000559496,;ZEB1,non_coding_transcript_exon_variant,,ENST00000558863,;ZEB1,non_coding_transcript_exon_variant,,ENST00000557827,;	T	ENST00000361642	Transcript	missense_variant	668/5990	605/3378	202/1125	S/I	aGt/aTt		1		1	ZEB1	HGNC	HGNC:11642	protein_coding	YES	CCDS53505.1	ENSP00000354487	P37275		UPI000068F51D	NM_001174096.1	deleterious(0)		5/9		Pfam_domain:PF05605,PROSITE_profiles:PS50157,hmmpanther:PTHR24391,hmmpanther:PTHR24391:SF17,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	31510793	31510793	G	T	1	0	0	0	0	1	0	0	0	18199	1029	36	2		2	ZEB1	10	31510793	Missense_Mutation	SNP	G	C3N-02423_TP	9995503	31510793	102286629	239	31158											
BMS1	0	.	GRCh38	chr10	42792513	42792513	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggaagatttgacaaaccCagaggatatccgaacaaaca	18	6	9	8	1	0	3	0	1	0	2	1	7	1	5	2	2	3	0	2	2	5	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.800C>A	p.Pro267Gln	p.P267Q	ENST00000374518	7/23	145	127	18	163	161	2	strelka-varscan-mutect	BMS1,missense_variant,p.Pro267Gln,ENST00000374518,NM_014753.3;	A	ENST00000374518	Transcript	missense_variant	863/7753	800/3849	267/1282	P/Q	cCa/cAa		1		1	BMS1	HGNC	HGNC:23505	protein_coding	YES	CCDS7199.1	ENSP00000363642	Q14692		UPI0000126A3E	NM_014753.3	tolerated(0.06)		7/23		hmmpanther:PTHR12858:SF2,hmmpanther:PTHR12858,Pfam_domain:PF08142,SMART_domains:SM00785																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	42792513	42792513	C	A	1	0	0	0	0	1	0	0	0	1627	594	21	2		2	BMS1	10	42792513	Missense_Mutation	SNP	C	C3N-02423_TP	11281720	42792513	91004909	240	31159											
HPSE2	0	.	GRCh38	chr10	99232487	99232487	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgaaagtccccgggccagGgtcaccaagcgcttggagct	8	5	15	13	3	1	0	1	0	0	0	2	2	2	1	4	4	2	2	4	4	2	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.309C>A	p.=	p.T103T	ENST00000370552	2/12	308	285	23	362	362	0	strelka-varscan-mutect	HPSE2,synonymous_variant,p.=,ENST00000370552,NM_021828.4;HPSE2,synonymous_variant,p.=,ENST00000370549,NM_001166244.1;HPSE2,synonymous_variant,p.=,ENST00000370546,NM_001166246.1;HPSE2,synonymous_variant,p.=,ENST00000628193,NM_001166245.1;HPSE2,synonymous_variant,p.=,ENST00000614306,;	T	ENST00000370552	Transcript	synonymous_variant	369/2295	309/1779	103/592	T	acC/acA		1		-1	HPSE2	HGNC	HGNC:18374	protein_coding	YES	CCDS7477.1	ENSP00000359583	Q8WWQ2		UPI00001AEEC0	NM_021828.4			2/12		hmmpanther:PTHR14363,hmmpanther:PTHR14363:SF15,Superfamily_domains:SSF51445																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	99232487	99232487	G	T	1	0	0	0	0	0	0	0	1	7240	1219	43	2		2	HPSE2	10	99232487	Silent	SNP	G	C3N-02423_TP	56439974	99232487	34564935	241	31160											
DNMBP	0	.	GRCh38	chr10	99956398	99956398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagatgaccgaggggaGaagtgggtgcttcagaaata	14	7	15	5	1	2	4	2	1	0	3	2	6	2	4	1	3	1	1	1	3	4	2			C3N-02423_TP	C3N-02423_NB	G	G																c.1076C>A	p.Ser359Tyr	p.S359Y	ENST00000324109	4/17	290	273	17	353	353	0	strelka-varscan-mutect	DNMBP,missense_variant,p.Ser359Tyr,ENST00000324109,NM_015221.2;DNMBP-AS1,intron_variant,,ENST00000434409,;	T	ENST00000324109	Transcript	missense_variant	1168/6400	1076/4734	359/1577	S/Y	tCt/tAt	COSM4010991,COSM4010992	1		-1	DNMBP	HGNC	HGNC:30373	protein_coding	YES	CCDS7485.1	ENSP00000315659	Q6XZF7		UPI000013D6C9	NM_015221.2	tolerated_low_confidence(0.76)		4/17		hmmpanther:PTHR22834:SF19,hmmpanther:PTHR22834											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	99	99956398	99956398	G	T	1	0	0	0	0	1	0	0	0	4487	942	33	2		2	DNMBP	10	99956398	Missense_Mutation	SNP	G	C3N-02423_TP	723911	99956398	33841024	242	31161											
KAZALD1	0	.	GRCh38	chr10	101064268	101064268	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcacccccagggccccaGatcgtgtcacatccatatga	9	8	7	17	1	2	2	2	1	0	1	4	2	3	2	6	1	0	0	6	1	1	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.519G>C	p.Gln173His	p.Q173H	ENST00000370200	3/5	136	128	8	155	155	0	strelka-varscan-mutect	KAZALD1,missense_variant,p.Gln173His,ENST00000370200,NM_030929.4;RP11-108L7.15,upstream_gene_variant,,ENST00000609242,;KAZALD1,non_coding_transcript_exon_variant,,ENST00000477267,;KAZALD1,non_coding_transcript_exon_variant,,ENST00000477979,;KAZALD1,non_coding_transcript_exon_variant,,ENST00000470106,;KAZALD1,upstream_gene_variant,,ENST00000465807,;KAZALD1,upstream_gene_variant,,ENST00000608812,;	C	ENST00000370200	Transcript	missense_variant	845/1913	519/915	173/304	Q/H	caG/caC		1		1	KAZALD1	HGNC	HGNC:25460	protein_coding	YES	CCDS7509.1	ENSP00000359219	Q96I82		UPI000004283E	NM_030929.4	tolerated(0.55)		3/5		Gene3D:2.60.40.10,Pfam_domain:PF07679,PIRSF_domain:PIRSF018239,PROSITE_profiles:PS50835,hmmpanther:PTHR14186,hmmpanther:PTHR14186:SF21,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	101064268	101064268	G	C	1	0	0	0	0	1	0	0	0	7906	933	33	4		4	KAZALD1	10	101064268	Missense_Mutation	SNP	G	C3N-02423_TP	1107870	101064268	32733154	243	31162											
ENO4	0	.	GRCh38	chr10	116879333	116879333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagtacagaaggagaatCatctgatgacagccttgtcg	13	9	12	7	1	2	4	1	2	1	2	3	6	2	5	1	2	2	1	1	2	4	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1580C>T	p.Ser527Leu	p.S527L	ENST00000341276	12/14	138	129	9	210	210	0	strelka-varscan-mutect	ENO4,missense_variant,p.Ser530Leu,ENST00000622726,;ENO4,missense_variant,p.Ser527Leu,ENST00000341276,NM_001242699.1;ENO4,missense_variant,p.Ser210Leu,ENST00000409522,;ENO4,missense_variant,p.Ser292Leu,ENST00000369207,;SHTN1,downstream_gene_variant,,ENST00000615301,NM_018330.6;SHTN1,downstream_gene_variant,,ENST00000355371,NM_001127211.2;SHTN1,downstream_gene_variant,,ENST00000260777,NM_001258298.1;	T	ENST00000341276	Transcript	missense_variant	1635/2865	1580/1878	527/625	S/L	tCa/tTa		1		1	ENO4	HGNC	HGNC:31670	protein_coding	YES	CCDS73206.1	ENSP00000345555		J3KNX1	UPI00016624E4	NM_001242699.1	deleterious(0)		12/14		Gene3D:3.20.20.120,Pfam_domain:PF00113,hmmpanther:PTHR11902,hmmpanther:PTHR11902:SF1,SMART_domains:SM01192,Superfamily_domains:SSF51604																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	99	116879333	116879333	C	T	1	0	0	0	0	1	0	0	0	4968	838	29	3		3	ENO4	10	116879333	Missense_Mutation	SNP	C	C3N-02423_TP	15815065	116879333	16918089	244	31163											
NSMCE4A	0	.	GRCh38	chr10	121959596	121959596	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcattaatactaacaggctCtgtttgaaagacaaattttt	14	16	5	6	0	2	2	1	1	1	1	2	2	2	2	0	1	2	2	0	1	5	7			C3N-02423_TP	C3N-02423_NB	C	C																c.989-1G>C		p.X330_splice	ENST00000369023		114	106	8	165	165	0	strelka-mutect	NSMCE4A,splice_acceptor_variant,,ENST00000369023,NM_001167865.1,NM_017615.2;NSMCE4A,downstream_gene_variant,,ENST00000369017,;RP11-500G22.4,downstream_gene_variant,,ENST00000618971,;NSMCE4A,splice_acceptor_variant,,ENST00000489266,;NSMCE4A,splice_acceptor_variant,,ENST00000468209,;NSMCE4A,non_coding_transcript_exon_variant,,ENST00000459911,;NSMCE4A,non_coding_transcript_exon_variant,,ENST00000477289,;NSMCE4A,downstream_gene_variant,,ENST00000483541,;	G	ENST00000369023	Transcript	splice_acceptor_variant	-/1394	989/1158	330/385			COSM4835448	1		-1	NSMCE4A	HGNC	HGNC:25935	protein_coding	YES	CCDS7624.1	ENSP00000358019	Q9NXX6		UPI000013D40C	NM_001167865.1,NM_017615.2				8/10												1						HIGH	1	SNV	1		1	1										PASS		rs1215260075	.												G	5	3	99	121959596	121959596	C	G	1	0	0	0	0	0	0	1	0	10738	927	32	4		4	NSMCE4A	10	121959596	Splice_Site	SNP	C	C3N-02423_TP	5080263	121959596	11837826	245	31164											
ACADSB	0	.	GRCh38	chr10	123040500	123040500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agttgacccagaatatggagGcacaggagcttcatttttat	12	12	10	7	0	1	2	1	1	0	1	1	4	1	4	1	3	1	3	1	3	3	6	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.338G>T	p.Gly113Val	p.G113V	ENST00000358776	4/11	314	252	62	347	346	1	strelka-varscan-mutect	ACADSB,missense_variant,p.Gly113Val,ENST00000358776,NM_001609.3;ACADSB,missense_variant,p.Gly11Val,ENST00000368869,;ACADSB,non_coding_transcript_exon_variant,,ENST00000411816,;	T	ENST00000358776	Transcript	missense_variant	352/5859	338/1299	113/432	G/V	gGc/gTc		1		1	ACADSB	HGNC	HGNC:91	protein_coding	YES	CCDS7634.1	ENSP00000357873	P45954	A0A0S2Z3P9	UPI00001251DF	NM_001609.3	deleterious(0)		4/11		Gene3D:1.10.540.10,Pfam_domain:PF02771,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF10,Superfamily_domains:SSF56645																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	123040500	123040500	G	T	1	0	0	0	0	1	0	0	0	158	1203	42	2		2	ACADSB	10	123040500	Missense_Mutation	SNP	G	C3N-02423_TP	1080904	123040500	10756922	246	31165											
MMP26	0	.	GRCh38	chr11	4990626	4990626	+	Missense_Mutation	SNP	C	C	A																															attacccacatgatatgaagCcatccgcagtgaaagacagt																								novel		C3N-02423_TP	C3N-02423_NB	C	C																c.349C>A	p.Pro117Thr	p.P117T	ENST00000380390	4/7	122	100	22	125	125	0	strelka-mutect	MMP26,missense_variant,p.Pro117Thr,ENST00000380390,;MMP26,missense_variant,p.Pro117Thr,ENST00000300762,NM_021801.3;MMP26,downstream_gene_variant,,ENST00000477339,;	A	ENST00000380390	Transcript	missense_variant	565/1189	349/786	117/261	P/T	Cca/Aca		1		1	MMP26	HGNC	HGNC:14249	protein_coding	YES	CCDS7752.1	ENSP00000369753	Q9NRE1		UPI0000047AFC		tolerated(0.21)		4/7		hmmpanther:PTHR10201:SF76,hmmpanther:PTHR10201,Pfam_domain:PF00413,Gene3D:3.40.390.10,SMART_domains:SM00235,Superfamily_domains:SSF55486																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	99	4990626	4990626	C	A	1	0	0	0	0	1	0	0	0	9626	739	26	2		2	MMP26	11	4990626	Missense_Mutation	SNP	C	C3N-02423_TP		4990626	130095996	247	31166	638	2									
MMP26	0	.	GRCh38	chr11	4990627	4990627	+	Missense_Mutation	SNP	C	C	A																															ttacccacatgatatgaagcCatccgcagtgaaagacagta																								rs867384591		C3N-02423_TP	C3N-02423_NB	C	C																c.350C>A	p.Pro117Gln	p.P117Q	ENST00000380390	4/7	122	100	22	130	130	0	strelka-mutect	MMP26,missense_variant,p.Pro117Gln,ENST00000380390,;MMP26,missense_variant,p.Pro117Gln,ENST00000300762,NM_021801.3;MMP26,downstream_gene_variant,,ENST00000477339,;	A	ENST00000380390	Transcript	missense_variant	566/1189	350/786	117/261	P/Q	cCa/cAa	rs867384591	1		1	MMP26	HGNC	HGNC:14249	protein_coding	YES	CCDS7752.1	ENSP00000369753	Q9NRE1		UPI0000047AFC		tolerated(0.5)		4/7		hmmpanther:PTHR10201:SF76,hmmpanther:PTHR10201,Pfam_domain:PF00413,Gene3D:3.40.390.10,SMART_domains:SM00235,Superfamily_domains:SSF55486																	MODERATE	1	SNV	5			1										PASS		rs867384591	.												A	3	1	99	4990627	4990627	C	A	1	0	0	0	0	1	0	0	0	9626	594	21	2		2	MMP26	11	4990627	Missense_Mutation	SNP	C	C3N-02423_TP	1	4990627	130095995	248	31167	638	2									
TUB	0	.	GRCh38	chr11	8039693	8039693	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaggaagggagatcgctcgGtgagctggaggggaggaggg	10	4	23	4	2	0	2	0	1	0	1	2	8	0	6	0	8	1	2	0	8	2	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.203+1G>T		p.X68_splice	ENST00000305253		40	29	11	43	43	0	strelka-varscan-mutect	TUB,splice_donor_variant,,ENST00000305253,NM_003320.4;TUB,intron_variant,,ENST00000534099,;RP11-236J17.6,non_coding_transcript_exon_variant,,ENST00000526646,;RP11-236J17.6,non_coding_transcript_exon_variant,,ENST00000528151,;	T	ENST00000305253	Transcript	splice_donor_variant	-/6420	203/1686	68/561				1		1	TUB	HGNC	HGNC:12406	protein_coding	YES	CCDS7786.1	ENSP00000305426	P50607		UPI000013EA27	NM_003320.4				2/12																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	99	8039693	8039693	G	T	1	0	0	0	0	0	0	1	0	17252	1275	44	2		2	TUB	11	8039693	Splice_Site	SNP	G	C3N-02423_TP	3049066	8039693	127046929	249	31168											
C11orf16	0	.	GRCh38	chr11	8921390	8921390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgttcagcttcccctggcgGggtccgcggtggcttcatgt	2	12	15	12	3	2	0	2	0	0	0	4	0	4	0	3	5	1	3	3	5	0	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1330C>A	p.Pro444Thr	p.P444T	ENST00000326053	6/7	319	268	51	402	402	0	strelka-varscan-mutect	C11orf16,missense_variant,p.Pro444Thr,ENST00000326053,NM_020643.2;C11orf16,intron_variant,,ENST00000525780,;AKIP1,downstream_gene_variant,,ENST00000529876,;AKIP1,downstream_gene_variant,,ENST00000309377,NM_020642.3;AKIP1,downstream_gene_variant,,ENST00000299576,NM_001206646.1;AKIP1,downstream_gene_variant,,ENST00000309357,NM_001206647.1;AKIP1,downstream_gene_variant,,ENST00000525005,;AKIP1,downstream_gene_variant,,ENST00000396648,;AKIP1,downstream_gene_variant,,ENST00000534147,;AKIP1,downstream_gene_variant,,ENST00000534506,;AKIP1,downstream_gene_variant,,ENST00000524577,;AKIP1,downstream_gene_variant,,ENST00000529942,NM_001206648.1;AKIP1,downstream_gene_variant,,ENST00000530281,;	T	ENST00000326053	Transcript	missense_variant	1437/1908	1330/1404	444/467	P/T	Ccg/Acg		1		-1	C11orf16	HGNC	HGNC:1169	protein_coding	YES	CCDS7794.1	ENSP00000318999	Q9NQ32		UPI0000456489	NM_020643.2	tolerated(0.11)		6/7		hmmpanther:PTHR14343,hmmpanther:PTHR14343:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	8921390	8921390	G	T	1	0	0	0	0	1	0	0	0	1777	1232	43	2		2	C11orf16	11	8921390	Missense_Mutation	SNP	G	C3N-02423_TP	881697	8921390	126165232	250	31169											
OTOG	0	.	GRCh38	chr11	17578505	17578505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcccgtggcccctgcctctCgggctgcgcctgtccccagg	2	7	13	19	3	1	0	0	0	1	0	3	0	2	0	7	3	3	1	7	3	0	0	rs749040674		C3N-02423_TP	C3N-02423_NB	C	C																c.2774C>T	p.Ser925Leu	p.S925L	ENST00000399391	22/55	74	65	9	88	88	0	strelka-varscan-mutect	OTOG,missense_variant,p.Ser913Leu,ENST00000399397,NM_001292063.1;OTOG,missense_variant,p.Ser925Leu,ENST00000399391,NM_001277269.1;OTOG,5_prime_UTR_variant,,ENST00000342528,;	T	ENST00000399391	Transcript	missense_variant	2774/8778	2774/8778	925/2925	S/L	tCg/tTg	rs749040674	1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1	deleterious(0)		22/55		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228,Gene3D:2.10.25.10,Superfamily_domains:SSF57567																	MODERATE	1	SNV	5			1										PASS		rs749040674	.												T	3	4	99	17578505	17578505	C	T	1	0	0	0	0	1	0	0	0	11370	893	31	1		1	OTOG	11	17578505	Missense_Mutation	SNP	C	C3N-02423_TP	8657115	17578505	117508117	251	31170											
LMO2	0	.	GRCh38	chr11	33869539	33869539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctccgcttgctccggcgctCcgccggcgagctcgcccctc	1	7	11	22	7	0	0	0	0	0	0	5	1	3	0	7	2	2	4	7	2	0	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.55G>A	p.Glu19Lys	p.E19K	ENST00000257818	4/6	97	92	5	161	161	0	strelka-varscan-mutect	LMO2,missense_variant,p.Glu19Lys,ENST00000257818,NM_005574.3;LMO2,5_prime_UTR_variant,,ENST00000395833,NM_001142315.1,NM_001142316.1;LMO2,downstream_gene_variant,,ENST00000493667,;LMO2,non_coding_transcript_exon_variant,,ENST00000465614,;LMO2,upstream_gene_variant,,ENST00000464025,;LMO2,upstream_gene_variant,,ENST00000411482,;	T	ENST00000257818	Transcript	missense_variant	885/2294	55/684	19/227	E/K	Gag/Aag		1		-1	LMO2	HGNC	HGNC:6642	protein_coding	YES	CCDS7888.2	ENSP00000257818	P25791		UPI00001F9F84	NM_005574.3	tolerated_low_confidence(0.16)		4/6		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1288824626	.												T	3	4	99	33869539	33869539	C	T	1	0	0	0	0	1	0	0	0	8778	864	30	3		3	LMO2	11	33869539	Missense_Mutation	SNP	C	C3N-02423_TP	16291034	33869539	101217083	252	31171											
CD44	0	.	GRCh38	chr11	35229203	35229203	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaaagccaagtggactcaAcggagaggccagcaagtctc	14	4	12	11	1	2	2	1	0	1	2	3	4	2	3	2	3	3	1	2	3	4	0	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.2099A>G	p.Asn700Ser	p.N700S	ENST00000428726	18/18	216	171	45	253	252	1	strelka-varscan-mutect	CD44,missense_variant,p.Asn319Ser,ENST00000263398,NM_001001391.1;CD44,missense_variant,p.Asn700Ser,ENST00000428726,NM_000610.3;CD44,missense_variant,p.Asn657Ser,ENST00000415148,NM_001001389.1;CD44,missense_variant,p.Asn451Ser,ENST00000433892,NM_001001390.1;CD44,missense_variant,p.Asn387Ser,ENST00000434472,NM_001202555.1;CD44,missense_variant,p.Asn298Ser,ENST00000352818,NM_001202556.1;CD44,missense_variant,p.Asn164Ser,ENST00000526669,;CD44,missense_variant,p.Asn248Ser,ENST00000279452,;CD44,missense_variant,p.Asn40Ser,ENST00000525469,;CD44,missense_variant,p.Asn219Ser,ENST00000278385,;CD44,synonymous_variant,p.=,ENST00000278386,NM_001001392.1;CD44,downstream_gene_variant,,ENST00000525688,;CD44,3_prime_UTR_variant,,ENST00000425428,;CD44,non_coding_transcript_exon_variant,,ENST00000527326,;	G	ENST00000428726	Transcript	missense_variant	2222/3046	2099/2229	700/742	N/S	aAc/aGc		1		1	CD44	HGNC	HGNC:1681	protein_coding	YES	CCDS7897.1	ENSP00000398632	P16070		UPI000013D3FE	NM_000610.3	deleterious(0)		18/18		hmmpanther:PTHR10225,hmmpanther:PTHR10225:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	35229203	35229203	A	G	1	0	0	0	0	1	0	0	0	2721	43	2	5		5	CD44	11	35229203	Missense_Mutation	SNP	A	C3N-02423_TP	1359664	35229203	99857419	253	31172											
CHST1	0	.	GRCh38	chr11	45650732	45650732	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcgcgtggtggccaggatGaggatgtgggtcttgcggga	5	9	20	7	3	1	1	0	1	1	0	1	4	1	4	1	6	2	0	1	6	0	1	rs200379237		C3N-02423_TP	C3N-02423_NB	G	G																c.192C>T	p.=	p.L64L	ENST00000308064	4/4	155	143	12	223	223	0	strelka-varscan-mutect	CHST1,synonymous_variant,p.=,ENST00000308064,NM_003654.5;RP11-495O11.1,upstream_gene_variant,,ENST00000525563,;CHST1,upstream_gene_variant,,ENST00000533673,;CHST1,downstream_gene_variant,,ENST00000531322,;	A	ENST00000308064	Transcript	synonymous_variant	863/2718	192/1236	64/411	L	ctC/ctT	rs200379237	1		-1	CHST1	HGNC	HGNC:1969	protein_coding	YES	CCDS7913.1	ENSP00000309270	O43916		UPI0000073EA0	NM_003654.5			4/4		hmmpanther:PTHR10704,hmmpanther:PTHR10704:SF36,Pfam_domain:PF00685,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005883,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs200379237	.												A	2	1	99	45650732	45650732	G	A	1	0	0	0	0	0	0	0	1	3157	1277	45	3		3	CHST1	11	45650732	Silent	SNP	G	C3N-02423_TP	10421529	45650732	89435890	254	31173											
MYBPC3	0	.	GRCh38	chr11	47343538	47343538	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttgagccatttgacctCagcgtcatggtcagccagtt	8	13	9	11	1	4	2	3	2	1	0	4	2	4	2	3	1	3	1	3	1	0	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1177G>T	p.Glu393Ter	p.E393*	ENST00000545968	13/35	134	124	10	114	114	0	strelka-varscan-mutect	MYBPC3,stop_gained,p.Glu393Ter,ENST00000545968,NM_000256.3;MYBPC3,stop_gained,p.Glu393Ter,ENST00000256993,;MYBPC3,stop_gained,p.Glu393Ter,ENST00000399249,;MYBPC3,stop_gained,p.Glu393Ter,ENST00000544791,;	A	ENST00000545968	Transcript	stop_gained	1232/4226	1177/3825	393/1274	E/*	Gag/Tag		1		-1	MYBPC3	HGNC	HGNC:7551	protein_coding	YES	CCDS53621.1	ENSP00000442795	Q14896		UPI000006EEAA	NM_000256.3			13/35		PROSITE_profiles:PS50835,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	99	47343538	47343538	C	A	1	0	0	0	0	0	1	0	0	10013	835	29	2		2	MYBPC3	11	47343538	Nonsense_Mutation	SNP	C	C3N-02423_TP	1692806	47343538	87743084	255	31174											
FOLH1	0	.	GRCh38	chr11	49154375	49154375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctcaaacaccatccctcCtcgaacctgggccacagtga	11	7	7	16	1	1	1	1	1	0	0	4	2	3	1	5	1	3	1	5	1	3	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1741G>A	p.Gly581Arg	p.G581R	ENST00000256999	16/19	271	251	20	304	304	0	varscan-mutect	FOLH1,missense_variant,p.Gly566Arg,ENST00000340334,NM_001193471.1;FOLH1,missense_variant,p.Gly581Arg,ENST00000256999,NM_004476.1;FOLH1,missense_variant,p.Gly581Arg,ENST00000356696,NM_001014986.1;FOLH1,missense_variant,p.Gly273Arg,ENST00000343844,NM_001193473.1;FOLH1,missense_variant,p.Gly566Arg,ENST00000533034,NM_001193472.1;FOLH1,3_prime_UTR_variant,,ENST00000525826,;FOLH1,non_coding_transcript_exon_variant,,ENST00000458311,;FOLH1,non_coding_transcript_exon_variant,,ENST00000532018,;	T	ENST00000256999	Transcript	missense_variant	2002/2635	1741/2253	581/750	G/R	Gga/Aga		1		-1	FOLH1	HGNC	HGNC:3788	protein_coding	YES	CCDS7946.1	ENSP00000256999	Q04609		UPI0000000A01	NM_004476.1	deleterious(0)		16/19		Gene3D:3.40.630.10,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF36,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	49154375	49154375	C	T	1	0	0	0	0	1	0	0	0	5840	690	24	3		3	FOLH1	11	49154375	Missense_Mutation	SNP	C	C3N-02423_TP	1810837	49154375	85932247	256	31175											
OR4A5	0	.	GRCh38	chr11	54707254	54707254	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgatcgctatgtggccAtctgtaagccactgcactat	8	12	9	12	1	1	1	0	1	1	0	2	1	1	1	3	1	2	3	3	1	3	3	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.370A>T	p.Ile124Phe	p.I124F	ENST00000319760	1/1	212	192	20	228	228	0	varscan-mutect	OR4A5,missense_variant,p.Ile124Phe,ENST00000319760,NM_001005272.3;	T	ENST00000319760	Transcript	missense_variant	370/948	370/948	124/315	I/F	Atc/Ttc		1		1	OR4A5	HGNC	HGNC:15162	protein_coding	YES	CCDS73289.1	ENSP00000367664	Q8NH83	A0A126GWJ2	UPI0000041D58	NM_001005272.3	deleterious_low_confidence(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF306,Superfamily_domains:SSF81321																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	99	54707254	54707254	A	T	1	0	0	0	0	1	0	0	0	11120	217	8	4		4	OR4A5	11	54707254	Missense_Mutation	SNP	A	C3N-02423_TP	5552879	54707254	80379368	257	31176											
OR4C15	0	.	GRCh38	chr11	55554739	55554739	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctatgtgacaaaaaccAtctcttttgaaggctgcatg	11	12	7	11	0	2	2	0	2	2	0	3	2	2	2	2	1	2	2	2	1	4	3	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.433A>T	p.Ile145Phe	p.I145F	ENST00000314644	1/1	321	291	30	341	341	0	strelka-varscan-mutect	OR4C15,missense_variant,p.Ile145Phe,ENST00000314644,NM_001001920.1;	T	ENST00000314644	Transcript	missense_variant	433/1113	433/1113	145/370	I/F	Atc/Ttc		1		1	OR4C15	HGNC	HGNC:15171	protein_coding	YES	CCDS31501.1	ENSP00000324958	Q8NGM1		UPI00003B288E	NM_001001920.1	deleterious_low_confidence(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF14,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245																	MODERATE	1	SNV				1										PASS		rs1293802668	.												T	3	4	99	55554739	55554739	A	T	1	0	0	0	0	1	0	0	0	11125	217	8	4		4	OR4C15	11	55554739	Missense_Mutation	SNP	A	C3N-02423_TP	847485	55554739	79531883	258	31177											
OR8K5	0	.	GRCh38	chr11	56160000	56160000	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaattcactgataatgaaCataaggaagaatgccagctg	19	8	8	6	0	1	3	1	2	0	1	1	4	1	4	1	1	3	1	1	1	7	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.318G>T	p.Met106Ile	p.M106I	ENST00000313447	1/1	208	174	34	231	231	0	strelka-varscan-mutect	OR8K5,missense_variant,p.Met106Ile,ENST00000313447,NM_001004058.2;	A	ENST00000313447	Transcript	missense_variant	318/924	318/924	106/307	M/I	atG/atT		1		-1	OR8K5	HGNC	HGNC:15315	protein_coding	YES	CCDS31521.1	ENSP00000323853	Q8NH50		UPI000004B231	NM_001004058.2	tolerated_low_confidence(0.51)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF60,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	99	56160000	56160000	C	A	1	0	0	0	0	1	0	0	0	11312	478	17	2		2	OR8K5	11	56160000	Missense_Mutation	SNP	C	C3N-02423_TP	605261	56160000	78926622	259	31178											
GLYAT	0	.	GRCh38	chr11	58709973	58709973	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaaggtgcctgccattctCatctctccagtctggtccat	6	12	9	14	0	3	0	1	0	3	0	7	0	5	0	4	3	2	1	4	3	1	1	rs373776314		C3N-02423_TP	C3N-02423_NB	C	C																c.684G>C	p.Met228Ile	p.M228I	ENST00000611865	5/5	168	159	9	156	156	0	strelka-varscan-mutect	GLYAT,missense_variant,p.Met228Ile,ENST00000611865,;GLYAT,missense_variant,p.Met228Ile,ENST00000344743,NM_201648.2;GLYAT,missense_variant,p.Met228Ile,ENST00000529732,;GLYAT,intron_variant,,ENST00000586098,;GLYAT,downstream_gene_variant,,ENST00000278400,NM_005838.3;	G	ENST00000611865	Transcript	missense_variant	684/1899	684/891	228/296	M/I	atG/atC	rs373776314,COSM3450042	1		-1	GLYAT	HGNC	HGNC:13734	protein_coding	YES	CCDS7970.1	ENSP00000484592	Q6IB77		UPI00003667C7		tolerated(0.49)		5/5		hmmpanther:PTHR15298:SF9,hmmpanther:PTHR15298,Gene3D:3.40.630.30,Pfam_domain:PF08444,Superfamily_domains:SSF55729											0,1						MODERATE	1	SNV	3		0,1	1										PASS		rs373776314	.												G	3	3	99	58709973	58709973	C	G	1	0	0	0	0	1	0	0	0	6356	826	29	4		4	GLYAT	11	58709973	Missense_Mutation	SNP	C	C3N-02423_TP	2549973	58709973	76376649	260	31179											
VWCE	0	.	GRCh38	chr11	61259075	61259076	+	Frame_Shift_Ins	INS	-	-	TT																															ccccaaagcgagtgagtgtgINSgaccatgagctcctgccggg																								novel		C3N-02423_TP	C3N-02423_NB	-	-																c.2467_2468insAA	p.Pro823GlnfsTer9	p.P823Qfs*9	ENST00000335613	20/20	225	180	45	226	226	0	sindel-varindel-pindel	VWCE,frameshift_variant,p.Pro823GlnfsTer9,ENST00000335613,NM_152718.2;VWCE,frameshift_variant,p.Pro539GlnfsTer9,ENST00000613271,;VWCE,frameshift_variant,p.Pro288GlnfsTer9,ENST00000535710,;VWCE,3_prime_UTR_variant,,ENST00000301770,;VWCE,downstream_gene_variant,,ENST00000538438,;	TT	ENST00000335613	Transcript	frameshift_variant	2854-2855/3640	2467-2468/2868	823/955	P/QX	cca/cAAca		1		-1	VWCE	HGNC	HGNC:26487	protein_coding	YES	CCDS8002.1	ENSP00000334186	Q96DN2		UPI000013E751	NM_152718.2			20/20		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF250																	HIGH	1	insertion	1			1										PASS		.	.												TT	7	5	99	61259075	61259075	-	TT	1	0	1	1	0	0	0	0	0	17804	1348	47	0		0	VWCE	11	61259075	Frame_Shift_Ins	INS	-	C3N-02423_TP	2549102	61259075	73827547	261	31180											
TMEM216	0	.	GRCh38	chr11	61392639	61392639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggcagcgtatgctgcCacggggactgaagatggcgc	7	7	17	10	3	0	2	0	1	0	1	0	3	0	3	1	4	3	4	1	4	2	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.8C>T	p.Pro3Leu	p.P3L	ENST00000515837	1/5	217	188	29	217	217	0	strelka-varscan-mutect	TMEM216,missense_variant,p.Pro3Leu,ENST00000515837,NM_001173990.2;TMEM216,missense_variant,p.Pro3Leu,ENST00000334888,NM_001173991.2;TMEM216,5_prime_UTR_variant,,ENST00000398979,NM_016499.5;TMEM216,non_coding_transcript_exon_variant,,ENST00000541473,;TMEM216,non_coding_transcript_exon_variant,,ENST00000544795,;	T	ENST00000515837	Transcript	missense_variant	953/1958	8/438	3/145	P/L	cCa/cTa		1		1	TMEM216	HGNC	HGNC:25018	protein_coding	YES	CCDS53640.1	ENSP00000440638	Q9P0N5		UPI0001915109	NM_001173990.2	deleterious_low_confidence(0)		1/5																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	99	61392639	61392639	C	T	1	0	0	0	0	1	0	0	0	16580	594	21	3		3	TMEM216	11	61392639	Missense_Mutation	SNP	C	C3N-02423_TP	133564	61392639	73693983	262	31181											
FTH1	0	.	GRCh38	chr11	61965033	61965033	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtgcagttccagtagtGactgattcacatttttttcc	7	18	8	8	0	1	2	1	2	0	0	3	2	3	2	2	0	1	4	2	0	1	7	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.341C>A	p.Ser114Ter	p.S114*	ENST00000273550	3/4	593	562	31	547	546	1	varscan-mutect	FTH1,stop_gained,p.Ser114Ter,ENST00000273550,NM_002032.2;FTH1,stop_gained,p.Ser114Ter,ENST00000620041,;FTH1,stop_gained,p.Ser84Ter,ENST00000526640,;FTH1,stop_gained,p.Ser44Ter,ENST00000532601,;FTH1,stop_gained,p.Ser44Ter,ENST00000529548,;BEST1,3_prime_UTR_variant,,ENST00000449131,NM_001139443.1;FTH1,intron_variant,,ENST00000530019,;FTH1,intron_variant,,ENST00000529191,;FTH1,intron_variant,,ENST00000529631,;BEST1,downstream_gene_variant,,ENST00000378043,NM_004183.3,NM_001300787.1;BEST1,downstream_gene_variant,,ENST00000534553,;BEST1,downstream_gene_variant,,ENST00000526988,;RP11-810P12.7,upstream_gene_variant,,ENST00000623785,;FTH1,3_prime_UTR_variant,,ENST00000534180,;FTH1,3_prime_UTR_variant,,ENST00000532829,;FTH1,non_coding_transcript_exon_variant,,ENST00000533138,;FTH1,non_coding_transcript_exon_variant,,ENST00000534719,;BEST1,downstream_gene_variant,,ENST00000524877,;BEST1,downstream_gene_variant,,ENST00000524926,;	T	ENST00000273550	Transcript	stop_gained	576/1229	341/552	114/183	S/*	tCa/tAa		1		-1	FTH1	HGNC	HGNC:3976	protein_coding	YES	CCDS41655.1	ENSP00000273550	P02794	A0A024R525	UPI000000122C	NM_002032.2			3/4		Gene3D:1.20.1260.10,Pfam_domain:PF00210,PROSITE_profiles:PS50905,hmmpanther:PTHR11431,hmmpanther:PTHR11431:SF37,Superfamily_domains:SSF47240																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	99	61965033	61965033	G	T	1	0	0	0	0	0	1	0	0	5956	1294	45	2		2	FTH1	11	61965033	Nonsense_Mutation	SNP	G	C3N-02423_TP	572394	61965033	73121589	263	31182											
GANAB	0	.	GRCh38	chr11	62625915	62625915	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaaggacaggcggcttTctggagatcctggaggagga	9	7	18	7	1	1	1	0	0	1	1	2	7	2	6	1	8	0	2	1	8	1	1	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.2801A>C	p.Glu934Ala	p.E934A	ENST00000346178	25/25	239	210	29	216	216	0	strelka-varscan-mutect	GANAB,missense_variant,p.Glu934Ala,ENST00000346178,NM_198335.3;GANAB,missense_variant,p.Glu815Ala,ENST00000540933,NM_001278194.1;GANAB,missense_variant,p.Glu912Ala,ENST00000356638,NM_198334.2;GANAB,missense_variant,p.Glu820Ala,ENST00000534779,NM_001278192.1,NM_001278193.1;B3GAT3,upstream_gene_variant,,ENST00000531383,NM_001288722.1;B3GAT3,upstream_gene_variant,,ENST00000265471,NM_001288721.1,NM_012200.3;B3GAT3,upstream_gene_variant,,ENST00000534026,NM_001288723.1;B3GAT3,upstream_gene_variant,,ENST00000534715,;GANAB,3_prime_UTR_variant,,ENST00000532402,;GANAB,non_coding_transcript_exon_variant,,ENST00000528503,;B3GAT3,upstream_gene_variant,,ENST00000532585,;GANAB,downstream_gene_variant,,ENST00000531563,;	G	ENST00000346178	Transcript	missense_variant	2817/3906	2801/2901	934/966	E/A	gAa/gCa		1		-1	GANAB	HGNC	HGNC:4138	protein_coding	YES	CCDS41656.1	ENSP00000340466	Q14697		UPI0000052BE8	NM_198335.3	tolerated(0.15)		25/25		hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF51																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	62625915	62625915	T	G	1	0	0	0	0	1	0	0	0	6101	1783	62	5		5	GANAB	11	62625915	Missense_Mutation	SNP	T	C3N-02423_TP	660882	62625915	72460707	264	31183											
PLCB3	0	.	GRCh38	chr11	64255254	64255254	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctggtctgaggagctattCaagctggctatgaacatcct	9	12	11	9	0	3	2	1	2	2	0	4	3	4	3	1	3	3	3	1	3	4	3	rs775042914		C3N-02423_TP	C3N-02423_NB	C	C																c.408C>G	p.Phe136Leu	p.F136L	ENST00000540288	5/32	359	335	24	324	324	0	strelka-varscan-mutect	PLCB3,missense_variant,p.Phe136Leu,ENST00000540288,NM_001316314.1,NM_000932.2;PLCB3,missense_variant,p.Phe136Leu,ENST00000279230,;PLCB3,missense_variant,p.Phe69Leu,ENST00000325234,NM_001184883.1;	G	ENST00000540288	Transcript	missense_variant	511/4469	408/3705	136/1234	F/L	ttC/ttG	rs775042914	1		1	PLCB3	HGNC	HGNC:9056	protein_coding	YES	CCDS8064.1	ENSP00000443631	Q01970		UPI0000131AFF	NM_001316314.1,NM_000932.2	tolerated(0.46)		5/32		hmmpanther:PTHR10336:SF11,hmmpanther:PTHR10336,PIRSF_domain:PIRSF000956,Gene3D:2.30.29.30,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		rs775042914	.												G	3	3	99	64255254	64255254	C	G	1	0	0	0	0	1	0	0	0	12123	825	29	4		4	PLCB3	11	64255254	Missense_Mutation	SNP	C	C3N-02423_TP	1629339	64255254	70831368	265	31184											
TRMT112	0	.	GRCh38	chr11	64317105	64317105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaactcctcattctcctCatatccctcaaccggccctt	9	11	3	18	1	4	1	3	0	1	1	7	1	6	1	5	1	2	0	5	1	3	3			C3N-02423_TP	C3N-02423_NB	C	C																c.223G>A	p.Glu75Lys	p.E75K	ENST00000544844	3/4	295	280	15	326	326	0	strelka-varscan-mutect	TRMT112,missense_variant,p.Glu75Lys,ENST00000544844,NM_016404.2;TRMT112,missense_variant,p.Glu31Lys,ENST00000535750,;TRMT112,missense_variant,p.Glu75Lys,ENST00000539854,NM_001286084.1;TRMT112,missense_variant,p.Glu70Lys,ENST00000308774,NM_001286082.1;TRMT112,3_prime_UTR_variant,,ENST00000535126,;ESRRA,downstream_gene_variant,,ENST00000405666,NM_001282450.1;ESRRA,downstream_gene_variant,,ENST00000406310,NM_001282451.1;ESRRA,downstream_gene_variant,,ENST00000000442,NM_004451.4;PRDX5,upstream_gene_variant,,ENST00000265462,NM_012094.4;ESRRA,downstream_gene_variant,,ENST00000539594,;ESRRA,downstream_gene_variant,,ENST00000545035,;PRDX5,upstream_gene_variant,,ENST00000352435,NM_181651.2;PRDX5,upstream_gene_variant,,ENST00000347941,NM_181652.2;TRMT112,non_coding_transcript_exon_variant,,ENST00000537918,;ESRRA,downstream_gene_variant,,ENST00000467987,;	T	ENST00000544844	Transcript	missense_variant	781/1106	223/378	75/125	E/K	Gag/Aag	COSM1298370	1		-1	TRMT112	HGNC	HGNC:26940	protein_coding	YES	CCDS8068.1	ENSP00000438349	Q9UI30	A0A024R565	UPI00000473D9	NM_016404.2	tolerated(0.17)		3/4		Pfam_domain:PF03966,hmmpanther:PTHR12773,hmmpanther:PTHR12773:SF1											1						MODERATE	1	SNV	1		1	1										PASS		rs1481135577	.												T	3	4	99	64317105	64317105	C	T	1	0	0	0	0	1	0	0	0	17065	835	29	3		3	TRMT112	11	64317105	Missense_Mutation	SNP	C	C3N-02423_TP	61851	64317105	70769517	266	31185											
SLCO2B1	0	.	GRCh38	chr11	75196637	75196637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaccctgccacgcaggCtgctcaagctgggtggtcca	8	7	11	15	1	2	0	2	0	0	0	3	0	3	0	3	3	3	4	3	3	1	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1557C>T	p.=	p.G519G	ENST00000289575	10/14	186	162	24	180	180	0	strelka-varscan-mutect	SLCO2B1,synonymous_variant,p.=,ENST00000289575,NM_007256.4;SLCO2B1,synonymous_variant,p.=,ENST00000454962,;SLCO2B1,synonymous_variant,p.=,ENST00000532236,;SLCO2B1,synonymous_variant,p.=,ENST00000428359,NM_001145211.2;SLCO2B1,synonymous_variant,p.=,ENST00000525650,NM_001145212.2;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000531756,;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000530012,;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000528108,;SLCO2B1,upstream_gene_variant,,ENST00000530015,;	T	ENST00000289575	Transcript	synonymous_variant	1952/4494	1557/2130	519/709	G	ggC/ggT		1		1	SLCO2B1	HGNC	HGNC:10962	protein_coding	YES	CCDS8235.1	ENSP00000289575		A0A024R5I4	UPI000000D99A	NM_007256.4			10/14		Pfam_domain:PF03137,PROSITE_profiles:PS51465,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF87,TIGRFAM_domain:TIGR00805																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	75196637	75196637	C	T	1	0	0	0	0	0	0	0	1	15014	784	28	3		3	SLCO2B1	11	75196637	Silent	SNP	C	C3N-02423_TP	10879532	75196637	59889985	267	31186											
UBTFL1	0	.	GRCh38	chr11	90086896	90086896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggccatgacaggaggccCggaccccaggttgaaacaag	12	5	13	11	1	0	2	0	2	0	0	0	4	0	4	4	5	1	1	4	5	3	2	rs748845279		C3N-02423_TP	C3N-02423_NB	C	C																c.947C>A	p.Pro316Gln	p.P316Q	ENST00000530464	1/1	153	142	11	156	156	0	varscan-mutect	UBTFL1,missense_variant,p.Pro316Gln,ENST00000530464,NM_001143975.1;	A	ENST00000530464	Transcript	missense_variant	947/1182	947/1182	316/393	P/Q	cCg/cAg	rs748845279	1		1	UBTFL1	HGNC	HGNC:14533	protein_coding	YES		ENSP00000485108	P0CB47		UPI0000185F50	NM_001143975.1	tolerated(0.08)		1/1		hmmpanther:PTHR13711:SF221,hmmpanther:PTHR13711																	MODERATE	1	SNV				1										PASS		rs748845279	.												A	3	1	99	90086896	90086896	C	A	1	0	0	0	0	1	0	0	0	17434	652	23	1		1	UBTFL1	11	90086896	Missense_Mutation	SNP	C	C3N-02423_TP	14890259	90086896	44999726	268	31187											
CEP295	0	.	GRCh38	chr11	93699947	93699947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcatcccagaatgaacatGcagcccccccaagtaatcct	13	8	5	15	0	1	2	1	1	0	1	3	2	3	2	5	0	3	2	5	0	4	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.5035G>T	p.Ala1679Ser	p.A1679S	ENST00000325212	15/30	281	225	56	250	250	0	strelka-varscan-mutect	CEP295,missense_variant,p.Ala1679Ser,ENST00000325212,NM_033395.1;CEP295,5_prime_UTR_variant,,ENST00000530425,;CEP295,intron_variant,,ENST00000531700,;CEP295,downstream_gene_variant,,ENST00000531877,;CEP295,downstream_gene_variant,,ENST00000531622,;	T	ENST00000325212	Transcript	missense_variant	5197/8057	5035/7806	1679/2601	A/S	Gca/Tca		1		1	CEP295	HGNC	HGNC:29366	protein_coding	YES	CCDS44708.1	ENSP00000316681	Q9C0D2		UPI0000251F0E	NM_033395.1	tolerated(0.18)		15/30																			MODERATE	1	SNV	2			1										PASS		rs1373811900	.												T	3	4	99	93699947	93699947	G	T	1	0	0	0	0	1	0	0	0	2970	1319	46	2		2	CEP295	11	93699947	Missense_Mutation	SNP	G	C3N-02423_TP	3613051	93699947	41386675	269	31188											
ATM	0	.	GRCh38	chr11	108227685	108227685	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactagaacatgatagagctAcagaacgaaaggtagtaaat	20	7	9	5	1	0	4	0	1	0	3	0	5	0	4	0	1	5	3	0	1	10	5	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.61A>G	p.Thr21Ala	p.T21A	ENST00000278616	2/63	471	429	42	380	380	0	strelka-varscan-mutect	ATM,missense_variant,p.Thr21Ala,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Thr21Ala,ENST00000452508,;ATM,missense_variant,p.Thr21Ala,ENST00000530958,;ATM,missense_variant,p.Thr21Ala,ENST00000527805,;ATM,missense_variant,p.Thr21Ala,ENST00000527891,;ATM,missense_variant,p.Thr21Ala,ENST00000601453,;ATM,missense_variant,p.Thr21Ala,ENST00000526567,;ATM,missense_variant,p.Thr21Ala,ENST00000532931,;Y_RNA,downstream_gene_variant,,ENST00000384240,;	G	ENST00000278616	Transcript	missense_variant	446/13147	61/9171	21/3056	T/A	Aca/Gca		1		1	ATM	HGNC	HGNC:795	protein_coding	YES	CCDS31669.1	ENSP00000278616	Q13315	A0A024R3C7	UPI000016B511	NM_000051.3	deleterious(0.01)		2/63		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF72,Pfam_domain:PF11640,SMART_domains:SM01342																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	99	108227685	108227685	A	G	1	0	0	0	0	1	0	0	0	1261	391	14	5		5	ATM	11	108227685	Missense_Mutation	SNP	A	C3N-02423_TP	14527738	108227685	26858937	270	31189											
DIXDC1	0	.	GRCh38	chr11	111929909	111929909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgctgccaacagagccttCtgtaagtttttggtgtacta	8	15	9	9	0	1	1	0	0	1	1	1	1	1	1	2	1	5	4	2	1	4	7	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.56C>T	p.Ser19Phe	p.S19F	ENST00000529225	2/6	318	297	21	285	285	0	strelka-varscan-mutect	DIXDC1,missense_variant,p.Ser19Phe,ENST00000529225,NM_001278542.1;C11orf52,downstream_gene_variant,,ENST00000278601,NM_080659.2;C11orf52,downstream_gene_variant,,ENST00000529342,;RNA5SP351,downstream_gene_variant,,ENST00000459480,;C11orf52,downstream_gene_variant,,ENST00000527286,;HSPB2-C11orf52,downstream_gene_variant,,ENST00000534100,;C11orf52,downstream_gene_variant,,ENST00000529012,;	T	ENST00000529225	Transcript	missense_variant,splice_region_variant	336/1945	56/657	19/218	S/F	tCt/tTt		1		1	DIXDC1	HGNC	HGNC:23695	protein_coding		CCDS60957.1	ENSP00000434130	Q155Q3		UPI0001F78119	NM_001278542.1	tolerated(0.07)		2/6		PROSITE_profiles:PS50021,Gene3D:1.10.418.10																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	99	111929909	111929909	C	T	1	0	0	0	0	1	0	0	0	4348	927	32	3		3	DIXDC1	11	111929909	Missense_Mutation	SNP	C	C3N-02423_TP	3702224	111929909	23156713	271	31190											
CADM1	0	.	GRCh38	chr11	115238533	115238533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggtgtaactttcctgtgGgggatcggtatagagctggc	6	12	17	6	1	0	1	0	0	0	1	2	2	1	2	1	6	2	3	1	6	3	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.391C>T	p.Pro131Ser	p.P131S	ENST00000331581	3/12	475	433	42	485	484	1	strelka-varscan-mutect	CADM1,missense_variant,p.Pro131Ser,ENST00000452722,NM_014333.3;CADM1,missense_variant,p.Pro131Ser,ENST00000542447,NM_001098517.1;CADM1,missense_variant,p.Pro90Ser,ENST00000621709,;CADM1,missense_variant,p.Pro90Ser,ENST00000612471,;CADM1,missense_variant,p.Pro131Ser,ENST00000537058,NM_001301044.1;CADM1,missense_variant,p.Pro131Ser,ENST00000536727,NM_001301045.1;CADM1,missense_variant,p.Pro130Ser,ENST00000545380,;CADM1,missense_variant,p.Pro131Ser,ENST00000331581,NM_001301043.1;CADM1,missense_variant,p.Pro90Ser,ENST00000621043,;CADM1,missense_variant,p.Pro90Ser,ENST00000616271,;CADM1,missense_variant,p.Pro90Ser,ENST00000612235,;CADM1,missense_variant,p.Pro98Ser,ENST00000545094,;CADM1,missense_variant,p.Pro115Ser,ENST00000543249,;CADM1,5_prime_UTR_variant,,ENST00000542450,;CADM1,5_prime_UTR_variant,,ENST00000543540,;CADM1,non_coding_transcript_exon_variant,,ENST00000537140,;CADM1,3_prime_UTR_variant,,ENST00000540951,;CADM1,non_coding_transcript_exon_variant,,ENST00000541434,;	A	ENST00000331581	Transcript	missense_variant	562/1766	391/1416	131/471	P/S	Cca/Tca		1		-1	CADM1	HGNC	HGNC:5951	protein_coding	YES	CCDS73399.1	ENSP00000329797	Q9BY67	X5D7A8	UPI000204AF0D	NM_001301043.1	tolerated(0.07)		3/12		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF53,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	115238533	115238533	G	A	1	0	0	0	0	1	0	0	0	2256	1232	43	3		3	CADM1	11	115238533	Missense_Mutation	SNP	G	C3N-02423_TP	3308624	115238533	19848089	272	31191											
VPS11	0	.	GRCh38	chr11	119077583	119077583	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctactactcccatgcccTgtatctggcggagaaccatg	8	10	10	13	1	1	1	0	0	1	1	2	2	2	1	3	3	4	2	3	3	4	3	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.1508T>A	p.Leu503Gln	p.L503Q	ENST00000621676	9/16	232	206	26	187	187	0	strelka-varscan-mutect	VPS11,missense_variant,p.Leu493Gln,ENST00000614944,NM_001290185.1;VPS11,missense_variant,p.Leu503Gln,ENST00000621676,NM_021729.5;VPS11,missense_variant,p.Leu160Gln,ENST00000530809,;VPS11,5_prime_UTR_variant,,ENST00000620429,;VPS11,non_coding_transcript_exon_variant,,ENST00000534551,;VPS11,upstream_gene_variant,,ENST00000524454,;VPS11,non_coding_transcript_exon_variant,,ENST00000622309,;VPS11,downstream_gene_variant,,ENST00000526829,;	A	ENST00000621676	Transcript	missense_variant	1640/3313	1508/2826	503/941	L/Q	cTg/cAg		1		1	VPS11	HGNC	HGNC:14583	protein_coding	YES	CCDS73404.1	ENSP00000481126		A0A087WXL6	UPI0000161C99	NM_021729.5	deleterious(0)		9/16		PROSITE_profiles:PS50236,hmmpanther:PTHR23323:SF24,hmmpanther:PTHR23323,Pfam_domain:PF00637,Gene3D:1.25.40.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	119077583	119077583	T	A	1	0	0	0	0	1	0	0	0	17735	1580	55	4		4	VPS11	11	119077583	Missense_Mutation	SNP	T	C3N-02423_TP	3839050	119077583	16009039	273	31192											
HINFP	0	.	GRCh38	chr11	119130746	119130746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaattctcctgcttgtGgcaggaatgtggcttttgtt	7	15	13	6	0	1	1	0	0	1	1	2	3	1	3	1	4	1	4	1	4	3	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.203G>T	p.Trp68Leu	p.W68L	ENST00000350777	3/10	221	179	42	205	205	0	strelka-varscan-mutect	HINFP,missense_variant,p.Trp68Leu,ENST00000350777,NM_198971.2,NM_015517.4;HINFP,missense_variant,p.Trp68Leu,ENST00000527410,NM_001243259.1;HINFP,missense_variant,p.Trp68Leu,ENST00000529988,;HINFP,downstream_gene_variant,,ENST00000530678,;HINFP,non_coding_transcript_exon_variant,,ENST00000532312,;HINFP,non_coding_transcript_exon_variant,,ENST00000527354,;HINFP,non_coding_transcript_exon_variant,,ENST00000531022,;HINFP,non_coding_transcript_exon_variant,,ENST00000529354,;HINFP,non_coding_transcript_exon_variant,,ENST00000531360,;HINFP,upstream_gene_variant,,ENST00000527755,;HINFP,upstream_gene_variant,,ENST00000532860,;HINFP,upstream_gene_variant,,ENST00000529808,;HINFP,downstream_gene_variant,,ENST00000527206,;HINFP,upstream_gene_variant,,ENST00000529610,;	T	ENST00000350777	Transcript	missense_variant	266/3163	203/1554	68/517	W/L	tGg/tTg		1		1	HINFP	HGNC	HGNC:17850	protein_coding	YES	CCDS8414.1	ENSP00000318085	Q9BQA5	A0A024R3F5	UPI000013EB5D	NM_198971.2,NM_015517.4	deleterious(0)		3/10		hmmpanther:PTHR24391,SMART_domains:SM00355																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	119130746	119130746	G	T	1	0	0	0	0	1	0	0	0	6998	1357	47	2		2	HINFP	11	119130746	Missense_Mutation	SNP	G	C3N-02423_TP	53163	119130746	15955876	274	31193											
ARHGAP32	0	.	GRCh38	chr11	128970679	128970679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggacggtactggcagtttgGagtcatattgaaatgcaaac	12	10	13	6	1	1	1	1	1	0	0	1	3	1	3	0	4	3	4	0	4	4	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.4492C>T	p.Pro1498Ser	p.P1498S	ENST00000310343	22/22	272	233	39	225	225	0	strelka-varscan-mutect	ARHGAP32,missense_variant,p.Pro1498Ser,ENST00000310343,NM_001142685.1;ARHGAP32,missense_variant,p.Pro1149Ser,ENST00000392657,NM_014715.3;ARHGAP32,missense_variant,p.Pro1149Ser,ENST00000527272,;ARHGAP32,3_prime_UTR_variant,,ENST00000524655,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000526162,;	A	ENST00000310343	Transcript	missense_variant	4492/10111	4492/6264	1498/2087	P/S	Cca/Tca		1		-1	ARHGAP32	HGNC	HGNC:17399	protein_coding	YES	CCDS44769.1	ENSP00000310561	A7KAX9		UPI000159C61F	NM_001142685.1	tolerated_low_confidence(0.49)		22/22		hmmpanther:PTHR15729:SF9,hmmpanther:PTHR15729																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	128970679	128970679	G	A	1	0	0	0	0	1	0	0	0	1006	1174	41	3		3	ARHGAP32	11	128970679	Missense_Mutation	SNP	G	C3N-02423_TP	9839933	128970679	6115943	275	31194											
ARHGAP32	0	.	GRCh38	chr11	129041001	129041001	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaacacagtgtccagggaaGagtcccacctgatgaaaagc	14	6	10	11	0	1	3	1	2	0	1	3	4	3	4	3	1	2	0	3	1	4	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.930C>G	p.=	p.L310L	ENST00000310343	10/22	229	214	15	210	210	0	strelka-varscan-mutect	ARHGAP32,synonymous_variant,p.=,ENST00000310343,NM_001142685.1;ARHGAP32,synonymous_variant,p.=,ENST00000524655,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000533509,;	C	ENST00000310343	Transcript	synonymous_variant	930/10111	930/6264	310/2087	L	ctC/ctG		1		-1	ARHGAP32	HGNC	HGNC:17399	protein_coding	YES	CCDS44769.1	ENSP00000310561	A7KAX9		UPI000159C61F	NM_001142685.1			10/22		PROSITE_profiles:PS50002,hmmpanther:PTHR15729:SF9,hmmpanther:PTHR15729,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	99	129041001	129041001	G	C	1	0	0	0	0	0	0	0	1	1006	929	33	4		4	ARHGAP32	11	129041001	Silent	SNP	G	C3N-02423_TP	70322	129041001	6045621	276	31195											
NFRKB	0	.	GRCh38	chr11	129865949	129865949	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattggctggctgatcacaGagaggggaactgtgatccgt	9	10	14	8	1	2	3	2	2	0	1	3	5	3	4	1	4	1	2	1	4	1	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.3641C>G	p.Ser1214Cys	p.S1214C	ENST00000524794	23/25	139	131	8	121	121	0	strelka-varscan-mutect	NFRKB,missense_variant,p.Ser1189Cys,ENST00000446488,NM_001143835.1;NFRKB,missense_variant,p.Ser1214Cys,ENST00000524794,NM_006165.3;NFRKB,missense_variant,p.Ser1189Cys,ENST00000524746,;NFRKB,downstream_gene_variant,,ENST00000531755,;	C	ENST00000524794	Transcript	missense_variant	3762/4351	3641/3975	1214/1324	S/C	tCt/tGt		1		-1	NFRKB	HGNC	HGNC:7802	protein_coding	YES	CCDS8483.1	ENSP00000436926	Q6P4R8		UPI000006E542	NM_006165.3	deleterious_low_confidence(0)		23/25																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	129865949	129865949	G	C	1	0	0	0	0	1	0	0	0	10420	942	33	4		4	NFRKB	11	129865949	Missense_Mutation	SNP	G	C3N-02423_TP	824948	129865949	5220673	277	31196											
KRAS	0	.	GRCh38	chr12	25245351	25245351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	10	8	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	3	5	1	4	4	rs121913530		C3N-02423_TP	C3N-02423_NB	C	C																c.34G>T	p.Gly12Cys	p.G12C	ENST00000256078	2/6	292	236	56	338	337	1	strelka-varscan-mutect	KRAS,missense_variant,p.Gly12Cys,ENST00000311936,NM_004985.4;KRAS,missense_variant,p.Gly12Cys,ENST00000556131,;KRAS,missense_variant,p.Gly12Cys,ENST00000256078,NM_033360.3;KRAS,missense_variant,p.Gly12Cys,ENST00000557334,;	A	ENST00000256078	Transcript	missense_variant	98/1119	34/570	12/189	G/C	Ggt/Tgt	rs121913530,CM076251,COSM1140136,COSM1152506,COSM1157797,COSM516,COSM517,COSM518	1		-1	KRAS	HGNC	HGNC:6407	protein_coding	YES	CCDS8703.1	ENSP00000256078	P01116	L7RSL8	UPI0000133132	NM_033360.3	deleterious(0.04)		2/6		Low_complexity_(Seg):seg,PROSITE_profiles:PS51421,hmmpanther:PTHR24070:SF186,hmmpanther:PTHR24070,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449										not_provided,pathogenic	0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		rs121913530	.												A	3	1	99	25245351	25245351	C	A	1	0	0	0	0	1	0	0	0	8318	594	21	2		2	KRAS	12	25245351	Missense_Mutation	SNP	C	C3N-02423_TP		25245351	108029958	278	31197											
KIAA1551	0	.	GRCh38	chr12	31984301	31984301	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagctcagagcaaatgaaaGaaatatttcctgaacaggat	18	9	8	6	0	1	4	1	2	0	2	2	5	2	5	1	1	3	2	1	1	6	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.3346G>C	p.Glu1116Gln	p.E1116Q	ENST00000312561	4/6	92	85	7	118	118	0	strelka-varscan-mutect	KIAA1551,missense_variant,p.Glu1116Gln,ENST00000312561,NM_018169.3;KIAA1551,downstream_gene_variant,,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,upstream_gene_variant,,ENST00000543763,;	C	ENST00000312561	Transcript	missense_variant	3760/6230	3346/5244	1116/1747	E/Q	Gaa/Caa		1		1	KIAA1551	HGNC	HGNC:25559	protein_coding	YES	CCDS8725.2	ENSP00000310338	Q9HCM1		UPI0000577B2F	NM_018169.3	deleterious(0.02)		4/6		Pfam_domain:PF15395,hmmpanther:PTHR21604																	MODERATE	1	SNV	1			1										PASS		rs1242195681	.												C	3	2	99	31984301	31984301	G	C	1	0	0	0	0	1	0	0	0	8122	943	33	4		4	KIAA1551	12	31984301	Missense_Mutation	SNP	G	C3N-02423_TP	6738950	31984301	101291008	279	31198											
KMT2D	0	.	GRCh38	chr12	49054375	49054375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcctgcccccatacgcCtgccgaccatgcagcacacc	7	5	7	22	2	0	0	0	0	0	0	1	1	1	0	8	0	5	2	8	0	1	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.442G>A	p.Gly148Ser	p.G148S	ENST00000301067	4/54	241	219	22	213	213	0	strelka-varscan-mutect	KMT2D,missense_variant,p.Gly148Ser,ENST00000301067,NM_003482.3;KMT2D,downstream_gene_variant,,ENST00000547610,;	T	ENST00000301067	Transcript	missense_variant	442/19419	442/16614	148/5537	G/S	Ggc/Agc		1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3	deleterious(0.02)		4/54		Low_complexity_(Seg):seg,Pfam_domain:PF13771																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	99	49054375	49054375	C	T	1	0	0	0	0	1	0	0	0	8298	681	24	3		3	KMT2D	12	49054375	Missense_Mutation	SNP	C	C3N-02423_TP	17070074	49054375	84220934	280	31199											
LMBR1L	0	.	GRCh38	chr12	49100580	49100580	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggcagtgtcgtgccaTctgggccgcaggctccggaa	6	8	15	12	3	2	0	1	0	1	0	4	1	3	1	3	4	1	3	3	4	1	0	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.1149A>T	p.Arg383Ser	p.R383S	ENST00000267102	14/17	178	146	32	187	187	0	strelka-varscan-mutect	LMBR1L,missense_variant,p.Arg383Ser,ENST00000267102,NM_001300750.1,NM_018113.3;LMBR1L,missense_variant,p.Arg363Ser,ENST00000547382,NM_001300751.1;LMBR1L,missense_variant,p.Arg73Ser,ENST00000547698,;LMBR1L,downstream_gene_variant,,ENST00000547675,;LMBR1L,downstream_gene_variant,,ENST00000551782,;LMBR1L,downstream_gene_variant,,ENST00000551854,;LMBR1L,downstream_gene_variant,,ENST00000550137,;LMBR1L,downstream_gene_variant,,ENST00000552449,;LMBR1L,downstream_gene_variant,,ENST00000553204,;LMBR1L,downstream_gene_variant,,ENST00000552153,;LMBR1L,downstream_gene_variant,,ENST00000549429,;LMBR1L,missense_variant,p.Arg79Ser,ENST00000553040,;LMBR1L,3_prime_UTR_variant,,ENST00000417750,;LMBR1L,3_prime_UTR_variant,,ENST00000547670,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000550867,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000552577,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000551143,;LMBR1L,non_coding_transcript_exon_variant,,ENST00000551272,;LMBR1L,intron_variant,,ENST00000547813,;LMBR1L,downstream_gene_variant,,ENST00000457164,;LMBR1L,downstream_gene_variant,,ENST00000551169,;LMBR1L,downstream_gene_variant,,ENST00000552141,;LMBR1L,downstream_gene_variant,,ENST00000549730,;LMBR1L,downstream_gene_variant,,ENST00000552879,;LMBR1L,downstream_gene_variant,,ENST00000549296,;LMBR1L,downstream_gene_variant,,ENST00000549587,;LMBR1L,downstream_gene_variant,,ENST00000550815,;	A	ENST00000267102	Transcript	missense_variant	1492/2934	1149/1470	383/489	R/S	agA/agT		1		-1	LMBR1L	HGNC	HGNC:18268	protein_coding	YES	CCDS8780.2	ENSP00000267102	Q6UX01	A0A024R0Y9	UPI0000071212	NM_001300750.1,NM_018113.3	deleterious(0.02)		14/17		Pfam_domain:PF04791,hmmpanther:PTHR12625,hmmpanther:PTHR12625:SF2																	MODERATE	1	SNV	1			1										PASS		rs1447857566	.												A	3	1	99	49100580	49100580	T	A	1	0	0	0	0	1	0	0	0	8765	1432	50	4		4	LMBR1L	12	49100580	Missense_Mutation	SNP	T	C3N-02423_TP	46205	49100580	84174729	281	31200											
SUOX	0	.	GRCh38	chr12	56002703	56002703	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggtgcagtgttggcctatCaggaccatcggtgtagggta	7	11	15	8	2	1	0	1	0	0	0	3	1	1	1	2	5	1	4	2	5	3	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.211C>T	p.Gln71Ter	p.Q71*	ENST00000394109	2/3	151	143	8	161	161	0	strelka-varscan-mutect	SUOX,stop_gained,p.Gln71Ter,ENST00000394109,;SUOX,stop_gained,p.Gln71Ter,ENST00000394115,NM_000456.2;SUOX,stop_gained,p.Gln71Ter,ENST00000266971,NM_001032386.1;SUOX,stop_gained,p.Gln71Ter,ENST00000548274,;SUOX,stop_gained,p.Gln71Ter,ENST00000356124,NM_001032387.1;SUOX,stop_gained,p.Gln71Ter,ENST00000546833,;SUOX,stop_gained,p.Gln71Ter,ENST00000551841,;SUOX,stop_gained,p.Gln71Ter,ENST00000552258,;IKZF4,upstream_gene_variant,,ENST00000262032,;SUOX,downstream_gene_variant,,ENST00000547586,;SUOX,non_coding_transcript_exon_variant,,ENST00000550478,;SUOX,intron_variant,,ENST00000551698,;SUOX,intron_variant,,ENST00000550340,;SUOX,intron_variant,,ENST00000552363,;IKZF4,upstream_gene_variant,,ENST00000548601,;SUOX,downstream_gene_variant,,ENST00000550121,;SUOX,stop_gained,p.Gln71Ter,ENST00000550065,;SUOX,non_coding_transcript_exon_variant,,ENST00000546712,;SUOX,non_coding_transcript_exon_variant,,ENST00000552813,;	T	ENST00000394109	Transcript	stop_gained	935/2860	211/1638	71/545	Q/*	Cag/Tag		1		1	SUOX	HGNC	HGNC:11460	protein_coding	YES	CCDS8901.2	ENSP00000377668	P51687	A0A024RB79	UPI00001FC4A1				2/3		hmmpanther:PTHR19372,hmmpanther:PTHR19372:SF7																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	99	56002703	56002703	C	T	1	0	0	0	0	0	1	0	0	15781	827	29	3		3	SUOX	12	56002703	Nonsense_Mutation	SNP	C	C3N-02423_TP	6902123	56002703	77272606	282	31201											
NACA	0	.	GRCh38	chr12	56720985	56720985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagattagtctttggttctGagggagcaatgggagctgac	10	12	14	5	0	2	3	0	2	2	1	2	5	2	5	0	3	2	3	0	3	3	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.545C>T	p.Ser182Leu	p.S182L	ENST00000550952	3/11	222	208	14	286	286	0	strelka-varscan-mutect	NACA,missense_variant,p.Ser182Leu,ENST00000454682,;NACA,missense_variant,p.Ser182Leu,ENST00000550952,NM_001113203.2;NACA,intron_variant,,ENST00000356769,NM_001113202.1;NACA,intron_variant,,ENST00000552540,NM_001113201.2;NACA,intron_variant,,ENST00000393891,NM_005594.5;NACA,intron_variant,,ENST00000548563,;NACA,intron_variant,,ENST00000546392,;NACA,intron_variant,,ENST00000549855,;NACA,intron_variant,,ENST00000549259,;NACA,intron_variant,,ENST00000552055,;NACA,intron_variant,,ENST00000546862,;NACA,upstream_gene_variant,,ENST00000550920,;NACA,downstream_gene_variant,,ENST00000546917,;NACA,intron_variant,,ENST00000551793,;NACA,intron_variant,,ENST00000551775,;NACA,intron_variant,,ENST00000551520,;NACA,intron_variant,,ENST00000547914,;NACA,intron_variant,,ENST00000548084,;	A	ENST00000550952	Transcript	missense_variant	584/2922	545/2778	182/925	S/L	tCa/tTa		1		-1	NACA	HGNC	HGNC:7629	protein_coding	YES	CCDS44925.2	ENSP00000448035	E9PAV3		UPI000014145D	NM_001113203.2	tolerated_low_confidence(0.26)		3/11		hmmpanther:PTHR21713:SF3,hmmpanther:PTHR21713																	MODERATE	1	SNV	2			1										PASS		rs1458983567	.												A	3	1	99	56720985	56720985	G	A	1	0	0	0	0	1	0	0	0	10139	1294	45	3		3	NACA	12	56720985	Missense_Mutation	SNP	G	C3N-02423_TP	718282	56720985	76554324	283	31202											
NEDD1	0	.	GRCh38	chr12	96940523	96940523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtttaggtgacatgttctCacctatcagagatggtaagt	11	14	10	6	0	2	2	2	1	1	1	3	3	2	2	1	2	0	3	1	2	4	6	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1253C>T	p.Ser418Leu	p.S418L	ENST00000557644	9/15	104	97	7	128	128	0	strelka-varscan-mutect	NEDD1,missense_variant,p.Ser411Leu,ENST00000266742,NM_152905.3;NEDD1,missense_variant,p.Ser411Leu,ENST00000429527,NM_001135176.1;NEDD1,missense_variant,p.Ser322Leu,ENST00000457368,;NEDD1,missense_variant,p.Ser322Leu,ENST00000411739,NM_001135177.1;NEDD1,missense_variant,p.Ser418Leu,ENST00000557644,NM_001135175.1;NEDD1,downstream_gene_variant,,ENST00000553609,;NEDD1,downstream_gene_variant,,ENST00000555114,;NEDD1,downstream_gene_variant,,ENST00000557454,;NEDD1,downstream_gene_variant,,ENST00000555806,;	T	ENST00000557644	Transcript	missense_variant	1399/2367	1253/2004	418/667	S/L	tCa/tTa		1		1	NEDD1	HGNC	HGNC:7723	protein_coding	YES	CCDS44955.1	ENSP00000451211	Q8NHV4		UPI000004D249	NM_001135175.1	deleterious(0)		9/15																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	96940523	96940523	C	T	1	0	0	0	0	1	0	0	0	10337	838	29	3		3	NEDD1	12	96940523	Missense_Mutation	SNP	C	C3N-02423_TP	40219538	96940523	36334786	284	31203											
UHRF1BP1L	0	.	GRCh38	chr12	100058764	100058764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctttccttaagttctctGaaagcaggataagtgactca	12	13	7	9	0	3	2	1	2	2	0	5	3	4	3	1	1	1	2	1	1	3	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2513C>T	p.Ser838Leu	p.S838L	ENST00000279907	14/21	181	164	17	187	186	1	strelka-varscan-mutect	UHRF1BP1L,missense_variant,p.Ser838Leu,ENST00000279907,NM_015054.1;UHRF1BP1L,missense_variant,p.Ser488Leu,ENST00000545232,;	A	ENST00000279907	Transcript	missense_variant	2726/5168	2513/4395	838/1464	S/L	tCa/tTa		1		-1	UHRF1BP1L	HGNC	HGNC:29102	protein_coding	YES	CCDS31882.1	ENSP00000279907	A0JNW5		UPI0000160563	NM_015054.1	tolerated(0.47)		14/21		hmmpanther:PTHR22774,hmmpanther:PTHR22774:SF17																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	100058764	100058764	G	A	1	0	0	0	0	1	0	0	0	17493	1294	45	3		3	UHRF1BP1L	12	100058764	Missense_Mutation	SNP	G	C3N-02423_TP	3118241	100058764	33216545	285	31204											
MYBPC1	0	.	GRCh38	chr12	101667803	101667803	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatcacaggtctgccaacaGatgcaaagatctttgtgcgt	11	10	9	11	1	3	2	1	0	2	2	3	2	3	2	2	1	4	1	2	1	2	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2407G>C	p.Asp803His	p.D803H	ENST00000452455	22/30	288	263	25	364	364	0	strelka-varscan-mutect	MYBPC1,missense_variant,p.Asp816His,ENST00000549145,;MYBPC1,missense_variant,p.Asp686His,ENST00000551300,;MYBPC1,missense_variant,p.Asp810His,ENST00000361466,NM_002465.3;MYBPC1,missense_variant,p.Asp810His,ENST00000361685,NM_206819.2;MYBPC1,missense_variant,p.Asp803His,ENST00000452455,NM_001254718.1;MYBPC1,missense_variant,p.Asp759His,ENST00000547405,NM_001254722.1;MYBPC1,missense_variant,p.Asp785His,ENST00000553190,NM_206821.2;MYBPC1,missense_variant,p.Asp771His,ENST00000547509,;MYBPC1,missense_variant,p.Asp772His,ENST00000392934,NM_001254723.1;MYBPC1,missense_variant,p.Asp785His,ENST00000545503,NM_001254719.1;MYBPC1,missense_variant,p.Asp773His,ENST00000541119,NM_001254720.1;MYBPC1,missense_variant,p.Asp766His,ENST00000536007,NM_001254721.1;MYBPC1,missense_variant,p.Asp803His,ENST00000550270,NM_206820.2;MYBPC1,non_coding_transcript_exon_variant,,ENST00000548298,;MYBPC1,non_coding_transcript_exon_variant,,ENST00000548532,;MYBPC1,intron_variant,,ENST00000550501,;MYBPC1,non_coding_transcript_exon_variant,,ENST00000549608,;	C	ENST00000452455	Transcript	missense_variant	2509/3861	2407/3522	803/1173	D/H	Gat/Cat		1		1	MYBPC1	HGNC	HGNC:7549	protein_coding	YES	CCDS58268.1	ENSP00000400908	Q00872		UPI0001AE6B26	NM_001254718.1	deleterious(0)		22/30		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	99	101667803	101667803	G	C	1	0	0	0	0	1	0	0	0	10011	942	33	4		4	MYBPC1	12	101667803	Missense_Mutation	SNP	G	C3N-02423_TP	1609039	101667803	31607506	286	31205											
C12orf42	0	.	GRCh38	chr12	103302531	103302531	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctcctcctgcagaggccGatggcagtggaaggtctggc	6	8	16	11	1	1	1	0	0	1	1	3	3	3	2	3	6	1	3	3	6	1	0	rs763470684		C3N-02423_TP	C3N-02423_NB	G	G																c.660C>T	p.=	p.I220I	ENST00000378113	6/6	89	84	5	113	113	0	strelka-varscan-mutect	C12orf42,synonymous_variant,p.=,ENST00000548048,;C12orf42,synonymous_variant,p.=,ENST00000378113,NM_001099336.2,NM_001278419.1;C12orf42,synonymous_variant,p.=,ENST00000548883,NM_198521.3;C12orf42,downstream_gene_variant,,ENST00000552578,;C12orf42,intron_variant,,ENST00000546526,;C12orf42,intron_variant,,ENST00000552977,;C12orf42,intron_variant,,ENST00000550650,;C12orf42,downstream_gene_variant,,ENST00000548789,;C12orf42,3_prime_UTR_variant,,ENST00000551134,;C12orf42,intron_variant,,ENST00000547347,;	A	ENST00000378113	Transcript	synonymous_variant	925/1513	660/1083	220/360	I	atC/atT	rs763470684	1		-1	C12orf42	HGNC	HGNC:24729	protein_coding	YES	CCDS44963.1	ENSP00000367353	Q96LP6		UPI00001D7906	NM_001099336.2,NM_001278419.1			6/6		Pfam_domain:PF15380,hmmpanther:PTHR40708,hmmpanther:PTHR40708:SF1																	LOW	1	SNV	5			1										PASS		rs763470684	.												A	2	1	99	103302531	103302531	G	A	1	0	0	0	0	0	0	0	1	1810	1048	37	1		1	C12orf42	12	103302531	Silent	SNP	G	C3N-02423_TP	1634728	103302531	29972778	287	31206											
TDG	0	.	GRCh38	chr12	103984921	103984921	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacctacagcttgcccaagGtatgttactgtcctcattcc	8	13	7	13	0	1	1	1	1	0	0	3	1	3	1	4	1	4	3	4	1	4	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.964+1G>A		p.X322_splice	ENST00000392872		46	42	4	62	62	0	varscan-mutect	TDG,splice_donor_variant,,ENST00000392872,NM_003211.4;TDG,splice_donor_variant,,ENST00000266775,;TDG,splice_donor_variant,,ENST00000544861,;GLT8D2,downstream_gene_variant,,ENST00000360814,NM_031302.3;GLT8D2,downstream_gene_variant,,ENST00000548660,;GLT8D2,downstream_gene_variant,,ENST00000546436,;TDG,downstream_gene_variant,,ENST00000537100,;TDG,downstream_gene_variant,,ENST00000436021,;TDG,upstream_gene_variant,,ENST00000536395,;TDG,splice_donor_variant,,ENST00000542926,;TDG,splice_donor_variant,,ENST00000540956,;TDG,downstream_gene_variant,,ENST00000544060,;TDG,downstream_gene_variant,,ENST00000545698,;	A	ENST00000392872	Transcript	splice_donor_variant	-/3251	964/1233	322/410				1		1	TDG	HGNC	HGNC:11700	protein_coding	YES	CCDS9095.1	ENSP00000376611	Q13569		UPI00000740E5	NM_003211.4				8/9																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	99	103984921	103984921	G	A	1	0	0	0	0	0	0	1	0	16133	1275	44	3		3	TDG	12	103984921	Splice_Site	SNP	G	C3N-02423_TP	682390	103984921	29290388	288	31207											
ANAPC5	0	.	GRCh38	chr12	121308666	121308666	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatagttcttggcttcattGaggttctcgatggcagcctc	8	14	10	9	1	3	1	1	1	2	0	5	2	3	1	1	3	1	4	1	3	2	6	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2082C>G	p.=	p.L694L	ENST00000261819	17/17	230	214	16	235	235	0	strelka-varscan-mutect	ANAPC5,synonymous_variant,p.=,ENST00000261819,NM_016237.4;ANAPC5,synonymous_variant,p.=,ENST00000541887,;ANAPC5,synonymous_variant,p.=,ENST00000441917,NM_001137559.1;ANAPC5,synonymous_variant,p.=,ENST00000535482,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000544314,;ANAPC5,3_prime_UTR_variant,,ENST00000539079,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000534976,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000535641,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000422342,;	C	ENST00000261819	Transcript	synonymous_variant	2204/2513	2082/2268	694/755	L	ctC/ctG		1		-1	ANAPC5	HGNC	HGNC:15713	protein_coding	YES	CCDS9220.1	ENSP00000261819	Q9UJX4		UPI000006DF80	NM_016237.4			17/17		Gene3D:1.25.40.10,hmmpanther:PTHR12830,Low_complexity_(Seg):seg,Superfamily_domains:SSF48452																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	99	121308666	121308666	G	C	1	0	0	0	0	0	0	0	1	703	1277	45	4		4	ANAPC5	12	121308666	Silent	SNP	G	C3N-02423_TP	17323745	121308666	11966643	289	31208											
TMEM132C	0	.	GRCh38	chr12	128706209	128706209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgtcagcagcaatgatgagGacatcaaatgggtgtgtcaa	13	9	12	7	1	3	2	3	2	0	0	4	3	3	3	0	2	2	2	0	2	3	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.3241G>A	p.Asp1081Asn	p.D1081N	ENST00000435159	9/9	153	121	32	138	138	0	strelka-varscan-mutect	TMEM132C,missense_variant,p.Asp1081Asn,ENST00000435159,NM_001136103.2;	A	ENST00000435159	Transcript	missense_variant	3241/4947	3241/3327	1081/1108	D/N	Gac/Aac		1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2	tolerated(0.31)		9/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	99	128706209	128706209	G	A	1	0	0	0	0	1	0	0	0	16491	1174	41	3		3	TMEM132C	12	128706209	Missense_Mutation	SNP	G	C3N-02423_TP	7397543	128706209	4569100	290	31209											
SFSWAP	0	.	GRCh38	chr12	131714860	131714860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagtgaagcactagcagagGatgggagctacaatgccgtg	12	7	15	7	1	0	3	0	2	0	1	0	5	0	5	1	2	5	3	1	2	4	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.427G>T	p.Asp143Tyr	p.D143Y	ENST00000541286	3/19	244	201	43	237	237	0	strelka-varscan-mutect	SFSWAP,missense_variant,p.Asp143Tyr,ENST00000261674,NM_004592.3;SFSWAP,missense_variant,p.Asp143Tyr,ENST00000541286,NM_001261411.1;SFSWAP,3_prime_UTR_variant,,ENST00000538548,;SFSWAP,non_coding_transcript_exon_variant,,ENST00000535236,;SFSWAP,non_coding_transcript_exon_variant,,ENST00000540469,;SFSWAP,downstream_gene_variant,,ENST00000535399,;	T	ENST00000541286	Transcript	missense_variant	520/3219	427/3012	143/1003	D/Y	Gat/Tat		1		1	SFSWAP	HGNC	HGNC:10790	protein_coding	YES	CCDS58290.1	ENSP00000437738	Q12872		UPI000204AB4C	NM_001261411.1	deleterious(0)		3/19		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09750,hmmpanther:PTHR13161,hmmpanther:PTHR13161:SF15,SMART_domains:SM01141																	MODERATE	1	SNV	1			1										PASS		rs1318996778	.												T	3	4	99	131714860	131714860	G	T	1	0	0	0	0	1	0	0	0	14444	1174	41	2		2	SFSWAP	12	131714860	Missense_Mutation	SNP	G	C3N-02423_TP	3008651	131714860	1560449	291	31210											
EP400NL	0	.	GRCh38	chr12	132104557	132104557	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagtggtggacacttTgtgtttcaggatgggtcagg	6	12	14	9	0	2	0	2	0	0	0	3	2	3	2	2	5	0	1	2	5	0	2	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.330T>A	p.Phe110Leu	p.F110L	ENST00000389560	5/6	164	138	26	185	185	0	strelka-varscan-mutect	EP400NL,missense_variant,p.Phe110Leu,ENST00000389560,;EP400NL,missense_variant,p.Phe110Leu,ENST00000454179,;EP400NL,missense_variant,p.Phe110Leu,ENST00000539205,;EP400NL,intron_variant,,ENST00000392352,;EP400NL,intron_variant,,ENST00000443539,;EP400NL,intron_variant,,ENST00000407361,;EP400NL,intron_variant,,ENST00000488030,;RP13-977J11.6,upstream_gene_variant,,ENST00000624002,;EP400NL,missense_variant,p.Phe179Leu,ENST00000446190,;EP400NL,missense_variant,p.Phe111Leu,ENST00000332441,;	A	ENST00000389560	Transcript	missense_variant	651/1726	330/1260	110/419	F/L	ttT/ttA		1		1	EP400NL	HGNC	HGNC:26602	protein_coding	YES		ENSP00000374211		H9KV84	UPI000024323A		tolerated_low_confidence(0.05)		5/6		Pfam_domain:PF15790																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	132104557	132104557	T	A	1	0	0	0	0	1	0	0	0	4996	1809	63	4		4	EP400NL	12	132104557	Missense_Mutation	SNP	T	C3N-02423_TP	389697	132104557	1170752	292	31211											
SACS	0	.	GRCh38	chr13	23331760	23331760	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaatccttctcttagggctTtgcaaagtcttatggctttt	7	18	7	9	0	3	0	1	0	2	0	5	0	4	0	1	2	1	3	1	2	4	6	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.12116A>G	p.Lys4039Arg	p.K4039R	ENST00000382292	9/9	334	306	28	364	363	1	strelka-varscan-mutect	SACS,missense_variant,p.Lys4039Arg,ENST00000382292,NM_014363.5;SACS,missense_variant,p.Lys3289Arg,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;	C	ENST00000382292	Transcript	missense_variant	12390/15324	12116/13740	4039/4579	K/R	aAa/aGa		1		-1	SACS	HGNC	HGNC:10519	protein_coding	YES	CCDS9300.2	ENSP00000371729	Q9NZJ4		UPI000047039D	NM_014363.5	deleterious(0.03)		9/9		hmmpanther:PTHR15600,hmmpanther:PTHR15600:SF28																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	99	23331760	23331760	T	C	1	0	0	0	0	1	0	0	0	14063	1841	64	5		5	SACS	13	23331760	Missense_Mutation	SNP	T	C3N-02423_TP		23331760	91032568	293	31212											
ATP8A2	0	.	GRCh38	chr13	25968581	25968581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcataacacagagccaaGcacacctgcaaaaagacatt	17	6	5	13	0	1	2	1	0	0	2	2	2	2	2	3	0	4	2	3	0	4	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.3279G>T	p.Lys1093Asn	p.K1093N	ENST00000381655	35/37	146	135	11	178	177	1	strelka-mutect	ATP8A2,missense_variant,p.Lys1093Asn,ENST00000381655,NM_016529.4;ATP8A2,missense_variant,p.Lys899Asn,ENST00000255283,;ATP8A2,3_prime_UTR_variant,,ENST00000281620,;	T	ENST00000381655	Transcript	missense_variant	3421/9575	3279/3567	1093/1188	K/N	aaG/aaT		1		1	ATP8A2	HGNC	HGNC:13533	protein_coding	YES	CCDS41873.1	ENSP00000371070	Q9NTI2		UPI0000229592	NM_016529.4	deleterious(0.01)		35/37		hmmpanther:PTHR24092:SF66,hmmpanther:PTHR24092,Pfam_domain:PF16212,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	99	25968581	25968581	G	T	1	0	0	0	0	1	0	0	0	1346	962	34	2		2	ATP8A2	13	25968581	Missense_Mutation	SNP	G	C3N-02423_TP	2636821	25968581	88395747	294	31213											
STARD13	0	.	GRCh38	chr13	33110853	33110853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccagggttggcacgtGgatctcagcctccacatacg	7	11	10	13	2	2	0	1	0	2	0	5	1	4	1	3	3	2	2	3	3	1	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2662C>T	p.His888Tyr	p.H888Y	ENST00000336934	11/14	318	292	26	334	334	0	strelka-varscan-mutect	STARD13,missense_variant,p.His888Tyr,ENST00000336934,NM_178006.3;STARD13,missense_variant,p.His880Tyr,ENST00000255486,NM_178007.2;STARD13,missense_variant,p.His770Tyr,ENST00000399365,NM_052851.2;STARD13,downstream_gene_variant,,ENST00000491333,;	A	ENST00000336934	Transcript	missense_variant	2779/5917	2662/3342	888/1113	H/Y	Cac/Tac		1		-1	STARD13	HGNC	HGNC:19164	protein_coding	YES	CCDS9348.1	ENSP00000338785	Q9Y3M8	A0A024RDV4	UPI000006226E	NM_178006.3	tolerated(0.72)		11/14		hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	33110853	33110853	G	A	1	0	0	0	0	1	0	0	0	15631	1348	47	3		3	STARD13	13	33110853	Missense_Mutation	SNP	G	C3N-02423_TP	7142272	33110853	81253475	295	31214											
NEK3	0	.	GRCh38	chr13	52141040	52141040	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgtgcttgcttcatttcCcaaagctatcctgattctgc	7	15	6	13	0	2	1	1	1	1	0	4	1	4	1	2	0	4	3	2	0	2	5	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.907G>T	p.Gly303Ter	p.G303*	ENST00000618534	11/16	136	125	11	169	169	0	strelka-varscan-mutect	NEK3,stop_gained,p.Gly303Ter,ENST00000618534,NM_152720.2;NEK3,stop_gained,p.Gly303Ter,ENST00000610828,NM_002498.2;NEK3,stop_gained,p.Gly303Ter,ENST00000620675,;NEK3,stop_gained,p.Gly33Ter,ENST00000618856,;NEK3,intron_variant,,ENST00000611833,NM_001146099.1;NEK3,intron_variant,,ENST00000617054,;NEK3,downstream_gene_variant,,ENST00000551355,;	A	ENST00000618534	Transcript	stop_gained	1302/2414	907/1521	303/506	G/*	Gga/Tga		1		-1	NEK3	HGNC	HGNC:7746	protein_coding	YES	CCDS73576.1	ENSP00000484443	P51956		UPI000012FF28	NM_152720.2			11/16		hmmpanther:PTHR24362:SF7,hmmpanther:PTHR24362																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	99	52141040	52141040	C	A	1	0	0	0	0	0	1	0	0	10353	632	22	2		2	NEK3	13	52141040	Nonsense_Mutation	SNP	C	C3N-02423_TP	19030187	52141040	62223288	296	31215											
KLF5	0	.	GRCh38	chr13	73075764	73075764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actggaggttcgcgcgatcgGatgagctgacccgccactac	8	7	13	13	5	0	2	0	2	0	0	2	5	0	4	2	3	2	2	2	3	1	2			C3N-02423_TP	C3N-02423_NB	G	G																c.1252G>A	p.Asp418Asn	p.D418N	ENST00000377687	4/4	109	102	7	109	109	0	strelka-mutect	KLF5,missense_variant,p.Asp418Asn,ENST00000377687,NM_001730.4;KLF5,missense_variant,p.Asp327Asn,ENST00000539231,NM_001286818.1;KLF5,non_coding_transcript_exon_variant,,ENST00000464404,;	A	ENST00000377687	Transcript	missense_variant	1788/3566	1252/1374	418/457	D/N	Gat/Aat	COSM353847	1		1	KLF5	HGNC	HGNC:6349	protein_coding	YES	CCDS9448.1	ENSP00000366915	Q13887	Q5T6X2	UPI0000000C89	NM_001730.4	deleterious(0)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF60,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	99	73075764	73075764	G	A	1	0	0	0	0	1	0	0	0	8214	1174	41	3		3	KLF5	13	73075764	Missense_Mutation	SNP	G	C3N-02423_TP	20934724	73075764	41288564	297	31216											
GPC6	0	.	GRCh38	chr13	94306115	94306115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctgcaggcacaagcttgGaccggctggtgagtattcac	8	9	13	11	1	1	1	1	1	0	0	1	2	1	2	1	4	3	6	1	4	2	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1144G>T	p.Asp382Tyr	p.D382Y	ENST00000377047	6/9	255	225	30	299	298	1	strelka-varscan-mutect	GPC6,missense_variant,p.Asp382Tyr,ENST00000377047,NM_005708.3;GPC6,missense_variant,p.Asp90Tyr,ENST00000617456,;	T	ENST00000377047	Transcript	missense_variant	1759/6467	1144/1668	382/555	D/Y	Gac/Tac		1		1	GPC6	HGNC	HGNC:4454	protein_coding	YES	CCDS9469.1	ENSP00000366246	Q9Y625		UPI0000032F5B	NM_005708.3	deleterious(0)		6/9		Pfam_domain:PF01153,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF31																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	94306115	94306115	G	T	1	0	0	0	0	1	0	0	0	6504	1174	41	2		2	GPC6	13	94306115	Missense_Mutation	SNP	G	C3N-02423_TP	21230351	94306115	20058213	298	31217											
RNF113B	0	.	GRCh38	chr13	98176893	98176893	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttctcggtgtcctgcTcgaagtcagcggtggccccc	3	10	12	16	3	2	0	1	0	1	0	6	1	4	0	4	3	2	2	4	3	1	1	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.344A>T	p.Glu115Val	p.E115V	ENST00000267291	1/2	369	335	34	335	335	0	strelka-varscan-mutect	RNF113B,missense_variant,p.Glu115Val,ENST00000267291,NM_178861.4;FARP1,intron_variant,,ENST00000596580,;FARP1,intron_variant,,ENST00000319562,NM_005766.3;FARP1,intron_variant,,ENST00000627049,;FARP1,intron_variant,,ENST00000595437,NM_001286839.1;FARP1,intron_variant,,ENST00000376581,NM_001001715.3;FARP1,upstream_gene_variant,,ENST00000598389,;FARP1,intron_variant,,ENST00000600648,;	A	ENST00000267291	Transcript	missense_variant	373/1376	344/969	115/322	E/V	gAg/gTg		1		-1	RNF113B	HGNC	HGNC:17267	protein_coding	YES	CCDS9486.1	ENSP00000267291	Q8IZP6		UPI000006F203	NM_178861.4	deleterious(0)		1/2		hmmpanther:PTHR12930,hmmpanther:PTHR12930:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	98176893	98176893	T	A	1	0	0	0	0	1	0	0	0	13606	1551	54	4		4	RNF113B	13	98176893	Missense_Mutation	SNP	T	C3N-02423_TP	3870778	98176893	16187435	299	31218											
TMTC4	0	.	GRCh38	chr13	100606375	100606375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacccaaattaccatggtaaCttgcagcatttggatttgct	11	14	7	9	0	0	0	0	0	0	0	0	1	0	1	2	2	6	4	2	2	4	6	rs757442715		C3N-02423_TP	C3N-02423_NB	C	C																c.2117G>T	p.Ser706Ile	p.S706I	ENST00000342624	18/19	237	199	38	242	241	1	strelka-varscan-mutect	TMTC4,missense_variant,p.Ser706Ile,ENST00000342624,NM_032813.3;TMTC4,missense_variant,p.Ser687Ile,ENST00000376234,NM_001079669.2;TMTC4,missense_variant,p.Ser576Ile,ENST00000328767,NM_001286453.1;	A	ENST00000342624	Transcript	missense_variant	2376/3602	2117/2283	706/760	S/I	aGt/aTt	rs757442715	1		-1	TMTC4	HGNC	HGNC:25904	protein_coding	YES	CCDS9497.2	ENSP00000343871	Q5T4D3		UPI000004B63E	NM_032813.3	tolerated(0.17)		18/19		Gene3D:1.25.40.10,Pfam_domain:PF13432,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF440,SMART_domains:SM00028,Superfamily_domains:SSF48452																	MODERATE	1	SNV	2			1										PASS		rs757442715	.												A	3	1	99	100606375	100606375	C	A	1	0	0	0	0	1	0	0	0	16737	565	20	2		2	TMTC4	13	100606375	Missense_Mutation	SNP	C	C3N-02423_TP	2429482	100606375	13757953	300	31219											
OR4N2	0	.	GRCh38	chr14	19827632	19827632	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacagcccccctctatttcTttctgggcaacttggccttc	5	14	6	16	0	4	0	1	0	3	0	5	0	4	0	4	2	2	1	4	2	2	5	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.184T>A	p.Phe62Ile	p.F62I	ENST00000315947	1/1	157	140	17	223	223	0	varscan-mutect	OR4N2,missense_variant,p.Phe62Ile,ENST00000315947,NM_001004723.2;OR4N2,missense_variant,p.Phe62Ile,ENST00000557677,;OR4N2,downstream_gene_variant,,ENST00000557414,;	A	ENST00000315947	Transcript	missense_variant	184/924	184/924	62/307	F/I	Ttt/Att		1		1	OR4N2	HGNC	HGNC:14742	protein_coding	YES	CCDS32022.1	ENSP00000319601	Q8NGD1	A0A126GVT2	UPI000004A5DF	NM_001004723.2	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF439,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	99	19827632	19827632	T	A	1	0	0	0	0	1	0	0	0	11153	1609	56	4		4	OR4N2	14	19827632	Missense_Mutation	SNP	T	C3N-02423_TP		19827632	87216086	301	31220											
OR11H6	0	.	GRCh38	chr14	20224082	20224082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctatttctttttttcaCtgggtacaacagagtgtttc	9	19	6	7	0	3	1	1	0	2	1	4	1	3	1	0	1	2	2	0	1	4	8	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.373C>A	p.Leu125Met	p.L125M	ENST00000315519	1/1	215	180	35	220	220	0	strelka-varscan-mutect	OR11H6,missense_variant,p.Leu125Met,ENST00000315519,NM_001004480.1;	A	ENST00000315519	Transcript	missense_variant	451/1174	373/993	125/330	L/M	Ctg/Atg		1		1	OR11H6	HGNC	HGNC:15349	protein_coding	YES	CCDS32033.1	ENSP00000319071	Q8NGC7	A0A126GVP4	UPI000004B1F1	NM_001004480.1	tolerated(0.36)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF90,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	99	20224082	20224082	C	A	1	0	0	0	0	1	0	0	0	11006	564	20	2		2	OR11H6	14	20224082	Missense_Mutation	SNP	C	C3N-02423_TP	396450	20224082	86819636	302	31221											
DCAF11	0	.	GRCh38	chr14	24123183	24123183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctgccctgcagtgggacggGaacctgcgtctgtggcagta	6	9	15	11	2	2	0	0	0	2	0	2	2	2	2	2	3	4	3	2	3	2	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1515G>A	p.=	p.G505G	ENST00000446197	15/15	87	82	5	95	95	0	strelka-varscan	DCAF11,synonymous_variant,p.=,ENST00000446197,NM_025230.4;DCAF11,synonymous_variant,p.=,ENST00000559115,NM_001163484.1;DCAF11,synonymous_variant,p.=,ENST00000396936,;DCAF11,synonymous_variant,p.=,ENST00000396941,NM_181357.2;DCAF11,3_prime_UTR_variant,,ENST00000559144,;RP11-468E2.6,intron_variant,,ENST00000558325,;DCAF11,downstream_gene_variant,,ENST00000561375,;DCAF11,downstream_gene_variant,,ENST00000560171,;DCAF11,3_prime_UTR_variant,,ENST00000557802,;DCAF11,3_prime_UTR_variant,,ENST00000326009,;DCAF11,3_prime_UTR_variant,,ENST00000558914,;DCAF11,non_coding_transcript_exon_variant,,ENST00000558624,;DCAF11,downstream_gene_variant,,ENST00000559472,;DCAF11,downstream_gene_variant,,ENST00000560046,;	A	ENST00000446197	Transcript	synonymous_variant	2242/4299	1515/1641	505/546	G	ggG/ggA		1		1	DCAF11	HGNC	HGNC:20258	protein_coding	YES	CCDS9610.1	ENSP00000415556	Q8TEB1		UPI0000073AB2	NM_025230.4			15/15		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19847,Gene3D:2.130.10.10,Pfam_domain:PF00400,PIRSF_domain:PIRSF038135,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00320																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	24123183	24123183	G	A	1	0	0	0	0	0	0	0	1	4063	1161	41	3		3	DCAF11	14	24123183	Silent	SNP	G	C3N-02423_TP	3899101	24123183	82920535	303	31222											
NPAS3	0	.	GRCh38	chr14	33800636	33800636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcgcggggggcggcGgccccagcgcgtccaactcc	3	2	19	17	8	0	0	0	0	0	0	2	0	2	0	4	7	2	0	4	7	1	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2329G>T	p.Gly777Cys	p.G777C	ENST00000356141	12/12	102	92	10	113	113	0	strelka-varscan-mutect	NPAS3,missense_variant,p.Gly745Cys,ENST00000346562,NM_022123.2;NPAS3,missense_variant,p.Gly747Cys,ENST00000548645,NM_001165893.1;NPAS3,missense_variant,p.Gly782Cys,ENST00000551492,;NPAS3,missense_variant,p.Gly777Cys,ENST00000356141,NM_001164749.1;NPAS3,missense_variant,p.Gly764Cys,ENST00000357798,NM_173159.2;NPAS3,missense_variant,p.Gly751Cys,ENST00000551634,;	T	ENST00000356141	Transcript	missense_variant	2329/2802	2329/2802	777/933	G/C	Ggc/Tgc		1		1	NPAS3	HGNC	HGNC:19311	protein_coding	YES	CCDS53891.1	ENSP00000348460	Q8IXF0	X5D2Q4	UPI00000743C2	NM_001164749.1	deleterious_low_confidence(0)		12/12		Low_complexity_(Seg):seg,hmmpanther:PTHR23043:SF30,hmmpanther:PTHR23043																	MODERATE	1	SNV	1			1										PASS		rs1168372419	.												T	3	4	99	33800636	33800636	G	T	1	0	0	0	0	1	0	0	0	10612	1116	39	1		1	NPAS3	14	33800636	Missense_Mutation	SNP	G	C3N-02423_TP	9677453	33800636	73243082	304	31223											
GCH1	0	.	GRCh38	chr14	54843870	54843870	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattatatttatttgacttcCtagaaataattttaaatata	16	20	2	3	0	0	2	0	1	0	1	1	2	1	2	1	0	0	0	1	0	11	13	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.627-1G>A		p.X209_splice	ENST00000543643		253	238	15	258	258	0	strelka-varscan-mutect	GCH1,splice_acceptor_variant,,ENST00000543643,NM_001024070.1;GCH1,3_prime_UTR_variant,,ENST00000491895,;GCH1,3_prime_UTR_variant,,ENST00000622544,NM_000161.2;GCH1,intron_variant,,ENST00000395514,NM_001024024.1;GCH1,intron_variant,,ENST00000536224,NM_001024071.1;GCH1,non_coding_transcript_exon_variant,,ENST00000254299,;GCH1,intron_variant,,ENST00000395521,;	T	ENST00000543643	Transcript	splice_acceptor_variant	-/1897	627/702	209/233				1		-1	GCH1	HGNC	HGNC:4193	protein_coding		CCDS41954.1	ENSP00000444011	P30793		UPI000002AA51	NM_001024070.1				5/6																		HIGH		SNV	1			1										PASS		.	.												T	5	4	99	54843870	54843870	C	T	1	0	0	0	0	0	0	1	0	6161	695	24	3		3	GCH1	14	54843870	Splice_Site	SNP	C	C3N-02423_TP	21043234	54843870	52199848	305	31224											
MAX	0	.	GRCh38	chr14	65084269	65084269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actttgacgatgaaggacagGagtacacaatttccaaaaga	17	8	9	7	1	0	3	0	2	0	1	1	6	1	5	1	2	1	1	1	2	5	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.202C>T	p.Pro68Ser	p.P68S	ENST00000246163	4/4	473	444	29	451	450	1	strelka-varscan-mutect	MAX,missense_variant,p.Pro68Ser,ENST00000246163,NM_145114.2;MAX,intron_variant,,ENST00000284165,;MAX,intron_variant,,ENST00000618858,NM_001320415.1,NM_145113.2;MAX,intron_variant,,ENST00000358402,NM_145112.2;MAX,intron_variant,,ENST00000555932,;MAX,intron_variant,,ENST00000358664,NM_002382.4;MAX,intron_variant,,ENST00000555419,;MAX,intron_variant,,ENST00000557277,;MAX,intron_variant,,ENST00000556979,;MAX,intron_variant,,ENST00000556443,;MAX,intron_variant,,ENST00000555667,;MAX,intron_variant,,ENST00000557746,;MAX,intron_variant,,ENST00000556892,;MAX,intron_variant,,ENST00000341653,NM_197957.3;RP11-840I19.3,intron_variant,,ENST00000556127,;MAX,intron_variant,,ENST00000394606,;MAX,intron_variant,,ENST00000553951,;MAX,intron_variant,,ENST00000553928,;	A	ENST00000246163	Transcript	missense_variant	372/897	202/291	68/96	P/S	Cct/Tct		1		-1	MAX	HGNC	HGNC:6913	protein_coding		CCDS9774.1	ENSP00000246163	P61244		UPI000006D02E	NM_145114.2	tolerated_low_confidence(0.23)		4/4		PROSITE_profiles:PS50888																	MODERATE		SNV	1			1										PASS		.	.												A	3	1	99	65084269	65084269	G	A	1	0	0	0	0	1	0	0	0	9266	1174	41	3		3	MAX	14	65084269	Missense_Mutation	SNP	G	C3N-02423_TP	10240399	65084269	41959449	306	31225											
EXD2	0	.	GRCh38	chr14	69228954	69228954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgttattggatattttggcaGatggcaccattttgaaagtt	10	16	10	5	1	0	2	0	1	0	1	0	3	0	3	1	3	0	4	1	3	3	8	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.472G>C	p.Asp158His	p.D158H	ENST00000312994	3/9	387	362	25	413	413	0	strelka-varscan-mutect	EXD2,missense_variant,p.Asp158His,ENST00000312994,NM_001193362.1,NM_001193363.1;EXD2,missense_variant,p.Asp33His,ENST00000409014,;EXD2,missense_variant,p.Asp158His,ENST00000409018,NM_001193361.1,NM_001193360.1;EXD2,missense_variant,p.Asp33His,ENST00000409675,NM_018199.3;EXD2,missense_variant,p.Asp33His,ENST00000409949,;EXD2,missense_variant,p.Asp33His,ENST00000409242,;EXD2,missense_variant,p.Asp33His,ENST00000413191,;EXD2,non_coding_transcript_exon_variant,,ENST00000492815,;EXD2,non_coding_transcript_exon_variant,,ENST00000489133,;EXD2,non_coding_transcript_exon_variant,,ENST00000494629,;	C	ENST00000312994	Transcript	missense_variant	793/5107	472/1866	158/621	D/H	Gat/Cat		1		1	EXD2	HGNC	HGNC:20217	protein_coding	YES	CCDS53902.1	ENSP00000313140	Q9NVH0		UPI0000577ED7	NM_001193362.1,NM_001193363.1	deleterious(0)		3/9		Gene3D:3.30.420.10,Pfam_domain:PF01612,hmmpanther:PTHR13620,hmmpanther:PTHR13620:SF0,SMART_domains:SM00474,Superfamily_domains:SSF53098																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	99	69228954	69228954	G	C	1	0	0	0	0	1	0	0	0	5165	942	33	4		4	EXD2	14	69228954	Missense_Mutation	SNP	G	C3N-02423_TP	4144685	69228954	37814764	307	31226											
MAP3K9	0	.	GRCh38	chr14	70738273	70738273	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccgaggcaagctccttctGaccaagcgtccctggccccc	6	7	9	19	2	1	1	0	1	1	0	4	2	4	1	6	2	2	2	6	2	2	1	rs374508438		C3N-02423_TP	C3N-02423_NB	G	G																c.1816C>T	p.Gln606Ter	p.Q606*	ENST00000555993	8/13	123	113	10	132	132	0	strelka-mutect	MAP3K9,stop_gained,p.Gln606Ter,ENST00000554752,NM_001284230.1;MAP3K9,stop_gained,p.Gln391Ter,ENST00000611979,NM_001284231.1;MAP3K9,stop_gained,p.Gln606Ter,ENST00000555993,NM_033141.3;MAP3K9,stop_gained,p.Gln606Ter,ENST00000381250,;MAP3K9,stop_gained,p.Gln348Ter,ENST00000553414,NM_001284232.1;MAP3K9,stop_gained,p.Gln343Ter,ENST00000554146,;	A	ENST00000555993	Transcript	stop_gained	2179/4449	1816/3357	606/1118	Q/*	Cag/Tag	rs374508438	1		-1	MAP3K9	HGNC	HGNC:6861	protein_coding	YES	CCDS32112.1	ENSP00000451263	P80192		UPI00001D7B5C	NM_033141.3			8/13		hmmpanther:PTHR23257:SF401,hmmpanther:PTHR23257,PIRSF_domain:PIRSF000556																	HIGH	1	SNV	1			1										PASS		rs374508438	.												A	4	1	99	70738273	70738273	G	A	1	0	0	0	0	0	1	0	0	9181	1299	45	3		3	MAP3K9	14	70738273	Nonsense_Mutation	SNP	G	C3N-02423_TP	1509319	70738273	36305445	308	31227											
PCNX1	0	.	GRCh38	chr14	71103470	71103470	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctacgtaaccgtaacccaGagagaggtagcatccaaaat	15	8	8	10	2	1	2	0	0	1	2	2	3	2	2	3	1	4	4	3	1	6	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.5896G>C	p.Glu1966Gln	p.E1966Q	ENST00000304743	32/36	397	368	29	405	405	0	strelka-mutect	PCNX1,missense_variant,p.Glu1966Gln,ENST00000304743,NM_014982.2;PCNX1,missense_variant,p.Glu1855Gln,ENST00000439984,NM_001308160.1;PCNX1,missense_variant,p.Glu953Gln,ENST00000554691,;PCNX1,non_coding_transcript_exon_variant,,ENST00000556272,;PCNX1,downstream_gene_variant,,ENST00000557428,;	C	ENST00000304743	Transcript	missense_variant	6342/12919	5896/7026	1966/2341	E/Q	Gag/Cag		1		1	PCNX1	HGNC	HGNC:19740	protein_coding	YES	CCDS9806.1	ENSP00000304192	Q96RV3		UPI000013E9BB	NM_014982.2	deleterious(0)		32/36		hmmpanther:PTHR12372:SF2,hmmpanther:PTHR12372,Pfam_domain:PF05041																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	71103470	71103470	G	C	1	0	0	0	0	1	0	0	0	11679	943	33	4		4	PCNX1	14	71103470	Missense_Mutation	SNP	G	C3N-02423_TP	365197	71103470	35940248	309	31228											
HEATR4	0	.	GRCh38	chr14	73522533	73522533	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctcgttcagcttttccAgcacagtggcctcccacgct	5	11	9	16	3	1	0	1	0	0	0	4	0	3	0	3	1	3	5	3	1	0	3	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.620T>C	p.Leu207Pro	p.L207P	ENST00000553558	3/18	272	246	26	251	251	0	strelka-varscan-mutect	HEATR4,missense_variant,p.Leu207Pro,ENST00000553558,NM_001220484.1;HEATR4,missense_variant,p.Leu207Pro,ENST00000334988,NM_203309.2;HEATR4,downstream_gene_variant,,ENST00000556455,;HEATR4,downstream_gene_variant,,ENST00000563329,;HEATR4,downstream_gene_variant,,ENST00000557603,;RP3-414A15.11,upstream_gene_variant,,ENST00000553394,;RP3-414A15.2,upstream_gene_variant,,ENST00000555972,;	G	ENST00000553558	Transcript	missense_variant	942/3523	620/3081	207/1026	L/P	cTg/cCg		1		-1	HEATR4	HGNC	HGNC:16761	protein_coding	YES	CCDS9815.2	ENSP00000450444	Q86WZ0		UPI00001FD7FD	NM_001220484.1	deleterious(0)		3/18		hmmpanther:PTHR12697,hmmpanther:PTHR12697:SF20																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	99	73522533	73522533	A	G	1	0	0	0	0	1	0	0	0	6912	188	7	5		5	HEATR4	14	73522533	Missense_Mutation	SNP	A	C3N-02423_TP	2419063	73522533	33521185	310	31229											
ISM2	0	.	GRCh38	chr14	77478267	77478267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcatgtccgtagcattGcgggccaggagcttccactc	7	10	11	13	2	1	0	1	0	0	0	4	1	3	1	3	2	4	4	3	2	1	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1173C>T	p.=	p.R391R	ENST00000342219	6/7	184	170	14	163	163	0	strelka-varscan-mutect	ISM2,missense_variant,p.Ala276Val,ENST00000493585,NM_182509.3;ISM2,synonymous_variant,p.=,ENST00000342219,NM_199296.2;ISM2,downstream_gene_variant,,ENST00000554801,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,non_coding_transcript_exon_variant,,ENST00000487738,;ISM2,downstream_gene_variant,,ENST00000471734,;	A	ENST00000342219	Transcript	synonymous_variant	1230/2971	1173/1716	391/571	R	cgC/cgT		1		-1	ISM2	HGNC	HGNC:23176	protein_coding	YES	CCDS9864.1	ENSP00000341490	Q6H9L7		UPI000019950C	NM_199296.2			6/7		hmmpanther:PTHR10239:SF28,hmmpanther:PTHR10239																	LOW	1	SNV	1			1										PASS		rs1192446145	.												A	2	1	99	77478267	77478267	G	A	1	0	0	0	0	0	0	0	1	7768	1319	46	3		3	ISM2	14	77478267	Silent	SNP	G	C3N-02423_TP	3955734	77478267	29565451	311	31230											
NRXN3	0	.	GRCh38	chr14	78988128	78988128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgacctcttattctggaaaCcagtgcaatgatcgtaagta	13	12	8	8	1	2	2	0	2	2	0	3	3	2	3	2	1	2	3	2	1	5	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.2130C>A	p.Asn710Lys	p.N710K	ENST00000554719	12/17	420	341	79	391	391	0	strelka-varscan-mutect	NRXN3,missense_variant,p.Asn1072Lys,ENST00000634499,;NRXN3,missense_variant,p.Asn1083Lys,ENST00000635466,;NRXN3,missense_variant,p.Asn710Lys,ENST00000554719,NM_004796.5;NRXN3,missense_variant,p.Asn844Lys,ENST00000335750,;NRXN3,non_coding_transcript_exon_variant,,ENST00000634266,;NRXN3,missense_variant,p.Asn1072Lys,ENST00000554738,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556496,;	A	ENST00000554719	Transcript	missense_variant	2621/4156	2130/3186	710/1061	N/K	aaC/aaA		1		1	NRXN3	HGNC	HGNC:8010	protein_coding	YES	CCDS9870.1	ENSP00000451648	Q9Y4C0		UPI0000167BBA	NM_004796.5	deleterious(0.02)		12/17		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,SMART_domains:SM00181,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	78988128	78988128	C	A	1	0	0	0	0	1	0	0	0	10726	506	18	2		2	NRXN3	14	78988128	Missense_Mutation	SNP	C	C3N-02423_TP	1509861	78988128	28055590	312	31231											
KCNK13	0	.	GRCh38	chr14	90184151	90184151	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgacagtaggaggaaaaatCtttctgatcttttacggcct	11	12	10	8	2	3	1	0	1	3	0	3	4	3	3	1	3	1	1	1	3	4	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.375C>G	p.Ile125Met	p.I125M	ENST00000282146	2/2	113	107	6	112	112	0	strelka-varscan-mutect	KCNK13,missense_variant,p.Ile125Met,ENST00000282146,NM_022054.3;	G	ENST00000282146	Transcript	missense_variant	816/2522	375/1227	125/408	I/M	atC/atG		1		1	KCNK13	HGNC	HGNC:6275	protein_coding	YES	CCDS9889.1	ENSP00000282146	Q9HB14		UPI0000127A55	NM_022054.3	deleterious(0.01)		2/2		Transmembrane_helices:TMhelix,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF57,Pfam_domain:PF07885,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR01333																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	90184151	90184151	C	G	1	0	0	0	0	1	0	0	0	7978	903	32	4		4	KCNK13	14	90184151	Missense_Mutation	SNP	C	C3N-02423_TP	11196023	90184151	16859567	313	31232											
RPS6KA5	0	.	GRCh38	chr14	90875324	90875324	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacgtcaaacttcggtcatGagattggaagggaacctgtc	12	9	11	9	2	2	1	2	1	0	1	4	4	2	3	1	3	2	0	1	3	3	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1873C>G	p.His625Asp	p.H625D	ENST00000614987	15/17	217	198	19	173	173	0	strelka-varscan-mutect	RPS6KA5,missense_variant,p.His625Asp,ENST00000614987,NM_004755.2;RPS6KA5,missense_variant,p.His546Asp,ENST00000536315,;RPS6KA5,3_prime_UTR_variant,,ENST00000556178,;	C	ENST00000614987	Transcript	missense_variant	2047/26795	1873/2409	625/802	H/D	Cat/Gat		1		-1	RPS6KA5	HGNC	HGNC:10434	protein_coding	YES	CCDS9893.1	ENSP00000479667	O75582		UPI0000031C30	NM_004755.2	tolerated(0.62)		15/17		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000606,PROSITE_profiles:PS50011,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	90875324	90875324	G	C	1	0	0	0	0	1	0	0	0	13909	1290	45	4		4	RPS6KA5	14	90875324	Missense_Mutation	SNP	G	C3N-02423_TP	691173	90875324	16168394	314	31233											
UNC79	0	.	GRCh38	chr14	93686591	93686591	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgggactgcagcgatggAgtgtgtgaggcagtacatca	9	9	17	6	1	1	1	1	1	0	0	1	4	1	3	0	3	3	3	0	3	1	1	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.6425A>T	p.Glu2142Val	p.E2142V	ENST00000256339	44/50	184	153	31	179	179	0	strelka-mutect	UNC79,missense_variant,p.Glu2341Val,ENST00000553484,;UNC79,missense_variant,p.Glu2280Val,ENST00000555664,;UNC79,missense_variant,p.Glu2142Val,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Glu2319Val,ENST00000393151,;UNC79,missense_variant,p.Glu2142Val,ENST00000621021,;UNC79,upstream_gene_variant,,ENST00000554549,;	T	ENST00000256339	Transcript	missense_variant	7080/8400	6425/7377	2142/2458	E/V	gAg/gTg		1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3	deleterious(0)		44/50		hmmpanther:PTHR21696:SF2,hmmpanther:PTHR21696																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	99	93686591	93686591	A	T	1	0	0	0	0	1	0	0	0	17520	304	11	4		4	UNC79	14	93686591	Missense_Mutation	SNP	A	C3N-02423_TP	2811267	93686591	13357127	315	31234											
CCNK	0	.	GRCh38	chr14	99502247	99502247	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgggaaccagagatcAtagcagtagcagtgatgtat	13	9	13	6	0	1	2	1	1	0	1	1	4	1	3	1	1	4	5	1	1	4	3	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.616A>T	p.Ile206Leu	p.I206L	ENST00000389879	7/11	271	233	38	193	193	0	strelka-varscan-mutect	CCNK,missense_variant,p.Ile206Leu,ENST00000389879,NM_001099402.1;CCNK,missense_variant,p.Ile206Leu,ENST00000555049,;CCNK,missense_variant,p.Ile206Leu,ENST00000557441,;CCDC85C,3_prime_UTR_variant,,ENST00000380243,NM_001144995.1;CCNK,non_coding_transcript_exon_variant,,ENST00000557165,;CCNK,non_coding_transcript_exon_variant,,ENST00000553865,;CCNK,downstream_gene_variant,,ENST00000556641,;	T	ENST00000389879	Transcript	missense_variant	739/3524	616/1743	206/580	I/L	Ata/Tta		1		1	CCNK	HGNC	HGNC:1596	protein_coding	YES	CCDS45160.1	ENSP00000374529	O75909	A0A024R6K1	UPI00001FDB50	NM_001099402.1	deleterious(0)		7/11		hmmpanther:PTHR10026:SF71,hmmpanther:PTHR10026,Pfam_domain:PF02984,SMART_domains:SM01332,SMART_domains:SM00385,Superfamily_domains:SSF47954																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	99	99502247	99502247	A	T	1	0	0	0	0	1	0	0	0	2629	217	8	4		4	CCNK	14	99502247	Missense_Mutation	SNP	A	C3N-02423_TP	5815656	99502247	7541471	316	31235											
ZNF839	0	.	GRCh38	chr14	102331661	102331661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaagagacattgccatctGaaccagaaaatggagctctt	14	10	9	8	0	2	4	0	2	2	2	2	6	2	5	2	1	3	1	2	1	4	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1231G>A	p.Glu411Lys	p.E411K	ENST00000442396	3/8	259	236	23	263	263	0	strelka-varscan-mutect	ZNF839,missense_variant,p.Glu411Lys,ENST00000442396,NM_018335.4;ZNF839,missense_variant,p.Glu295Lys,ENST00000558850,NM_001267827.1;ZNF839,missense_variant,p.Glu295Lys,ENST00000559185,NM_001267828.1;ZNF839,missense_variant,p.Glu9Lys,ENST00000559155,;ZNF839,5_prime_UTR_variant,,ENST00000560568,;ZNF839,intron_variant,,ENST00000561251,;ZNF839,upstream_gene_variant,,ENST00000558490,;ZNF839,upstream_gene_variant,,ENST00000560112,;ZNF839,upstream_gene_variant,,ENST00000558462,;ZNF839,missense_variant,p.Glu347Lys,ENST00000559098,;ZNF839,upstream_gene_variant,,ENST00000557803,;	A	ENST00000442396	Transcript	missense_variant	1246/2987	1231/2784	411/927	E/K	Gaa/Aaa		1		1	ZNF839	HGNC	HGNC:20345	protein_coding	YES	CCDS45164.1	ENSP00000399863	A8K0R7		UPI0001596890	NM_018335.4	deleterious(0.02)		3/8		hmmpanther:PTHR16116,Pfam_domain:PF15961																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	99	102331661	102331661	G	A	1	0	0	0	0	1	0	0	0	18774	1291	45	3		3	ZNF839	14	102331661	Missense_Mutation	SNP	G	C3N-02423_TP	2829414	102331661	4712057	317	31236											
TDRD9	0	.	GRCh38	chr14	104004248	104004248	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgaaggccgtgctggAcgagtgtctagagggtactg	7	11	15	8	2	1	2	0	1	1	1	2	4	2	3	2	3	2	2	2	3	3	3			C3N-02423_TP	C3N-02423_NB	A	A																c.1494A>G	p.=	p.G498G	ENST00000409874	14/36	117	104	13	114	114	0	strelka-mutect	TDRD9,synonymous_variant,p.=,ENST00000409874,NM_153046.2;TDRD9,synonymous_variant,p.=,ENST00000339063,;TDRD9,synonymous_variant,p.=,ENST00000557332,;TDRD9,upstream_gene_variant,,ENST00000466378,;	G	ENST00000409874	Transcript	synonymous_variant	1542/4782	1494/4149	498/1382	G	ggA/ggG	COSM4917409,COSM4917410	1		1	TDRD9	HGNC	HGNC:20122	protein_coding	YES	CCDS9987.2	ENSP00000387303	Q8NDG6		UPI0001642306	NM_153046.2			14/36		PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF113,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540											1,1						LOW	1	SNV	5		1,1	1										PASS		rs1028920764	.												G	2	3	99	104004248	104004248	A	G	1	0	0	0	0	0	0	0	1	16146	262	10	5		5	TDRD9	14	104004248	Silent	SNP	A	C3N-02423_TP	1672587	104004248	3039470	318	31237											
CYFIP1	0	.	GRCh38	chr15	22882892	22882892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgacgaccttcagcagCtcctccatgaccacggcgat	8	9	8	16	3	2	2	1	2	1	0	4	4	4	2	4	1	2	2	4	1	0	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.2796G>A	p.=	p.E932E	ENST00000617928	24/31	75	71	4	96	96	0	varscan-mutect	CYFIP1,synonymous_variant,p.=,ENST00000617928,NM_014608.3;CYFIP1,synonymous_variant,p.=,ENST00000617556,NM_001033028.1;CYFIP1,synonymous_variant,p.=,ENST00000610365,NM_001287810.1;CYFIP1,non_coding_transcript_exon_variant,,ENST00000619348,;	T	ENST00000617928	Transcript	synonymous_variant	2851/6793	2796/3762	932/1253	E	gaG/gaA		1		-1	CYFIP1	HGNC	HGNC:13759	protein_coding	YES	CCDS73696.1	ENSP00000481038	Q7L576		UPI0000163A89	NM_014608.3			24/31		hmmpanther:PTHR12195,hmmpanther:PTHR12195:SF2,PIRSF_domain:PIRSF008153,Pfam_domain:PF05994																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	22882892	22882892	C	T	1	0	0	0	0	0	0	0	1	3940	796	28	3		3	CYFIP1	15	22882892	Silent	SNP	C	C3N-02423_TP		22882892	79108297	319	31238											
NDN	0	.	GRCh38	chr15	23687173	23687173	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcggagttgggggcctcGgctgcaaagttagggtcgct	6	9	16	10	3	0	0	0	0	0	0	3	1	0	1	2	5	1	5	2	5	2	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.45C>A	p.=	p.A15A	ENST00000331837	1/1	43	36	7	64	64	0	strelka-varscan-mutect	NDN,synonymous_variant,p.=,ENST00000331837,NM_002487.2;	T	ENST00000331837	Transcript	synonymous_variant	158/1931	45/966	15/321	A	gcC/gcA		1		-1	NDN	HGNC	HGNC:7675	protein_coding	YES	CCDS10014.1	ENSP00000332643	Q99608	X5D982	UPI000012FEF1	NM_002487.2			1/1		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF10																	LOW	1	SNV				1										PASS		.	.												T	2	4	99	23687173	23687173	G	T	1	0	0	0	0	0	0	0	1	10268	1103	39	1		1	NDN	15	23687173	Silent	SNP	G	C3N-02423_TP	804281	23687173	78304016	320	31239											
HERC2	0	.	GRCh38	chr15	28143979	28143979	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctctgaagggcccacattCtgtgactggcagctgaaatg	9	10	12	10	0	2	3	0	3	2	0	3	3	2	3	1	2	1	2	1	2	2	1			C3N-02423_TP	C3N-02423_NB	C	C																c.11312G>C	p.Arg3771Thr	p.R3771T	ENST00000261609	74/93	233	184	49	265	265	0	strelka-varscan-mutect	HERC2,missense_variant,p.Arg3771Thr,ENST00000261609,NM_004667.5;HERC2,upstream_gene_variant,,ENST00000564519,;	G	ENST00000261609	Transcript	missense_variant	11421/15337	11312/14505	3771/4834	R/T	aGa/aCa	COSM1678314	1		-1	HERC2	HGNC	HGNC:4868	protein_coding	YES	CCDS10021.1	ENSP00000261609	O95714		UPI00004578F7	NM_004667.5	deleterious(0)		74/93													1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	99	28143979	28143979	C	G	1	0	0	0	0	1	0	0	0	6942	913	32	4		4	HERC2	15	28143979	Missense_Mutation	SNP	C	C3N-02423_TP	4456806	28143979	73847210	321	31240											
GOLGA8M	0	.	GRCh38	chr15	28708405	28708405	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgttccacttgtttcttCtgttgtttctgtggggagag	4	19	12	6	0	3	2	0	1	3	1	4	3	4	2	1	2	0	4	1	2	0	6	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.318G>A	p.=	p.Q106Q	ENST00000563027	5/19	150	137	13	170	170	0	varscan-mutect	GOLGA8M,synonymous_variant,p.=,ENST00000563027,NM_001282468.1;RN7SL719P,upstream_gene_variant,,ENST00000620196,;GOLGA8M,downstream_gene_variant,,ENST00000563213,;	T	ENST00000563027	Transcript	synonymous_variant	318/1899	318/1899	106/632	Q	caG/caA		1		-1	GOLGA8M	HGNC	HGNC:44404	protein_coding	YES	CCDS61572.1	ENSP00000456927	H3BSY2		UPI0001A5E7A0	NM_001282468.1			5/19		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	99	28708405	28708405	C	T	1	0	0	0	0	0	0	0	1	6454	912	32	3		3	GOLGA8M	15	28708405	Silent	SNP	C	C3N-02423_TP	564426	28708405	73282784	322	31241											
GOLGA6L7P	0	.	GRCh38	chr15	28845776	28845776	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtctccagttcagttttCtgacacataaggattcgtat	9	15	8	9	1	3	1	1	1	2	0	5	2	3	2	1	1	0	4	1	1	2	6	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.297G>C	p.Gln99His	p.Q99H	ENST00000567390	5/9	231	214	17	277	277	0	varscan-mutect	GOLGA6L7P,missense_variant,p.Gln99His,ENST00000567390,;PDCD6IPP2,intron_variant,,ENST00000566178,;PDCD6IPP2,intron_variant,,ENST00000564604,;GOLGA6L7P,non_coding_transcript_exon_variant,,ENST00000569815,;	G	ENST00000567390	Transcript	missense_variant	423/2397	297/1869	99/622	Q/H	caG/caC		1		-1	GOLGA6L7P	HGNC	HGNC:37442	protein_coding	YES		ENSP00000490318					deleterious(0)		5/9		hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF11																	MODERATE		SNV				1										PASS		.	.												G	3	3	99	28845776	28845776	C	G	1	0	0	0	0	1	0	0	0	6443	912	32	4		4	GOLGA6L7P	15	28845776	Missense_Mutation	SNP	C	C3N-02423_TP	137371	28845776	73145413	323	31242											
APBA2	0	.	GRCh38	chr15	29076086	29076086	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcatttccaagttttgTggctggtaagtgactttgaa	9	15	11	6	0	1	2	1	2	0	0	2	2	2	2	1	3	0	4	1	3	3	5	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.1064T>A	p.Val355Glu	p.V355E	ENST00000558402	7/16	387	343	44	369	369	0	strelka-varscan-mutect	APBA2,missense_variant,p.Val355Glu,ENST00000558402,;APBA2,missense_variant,p.Val355Glu,ENST00000558259,NM_005503.3;APBA2,missense_variant,p.Val355Glu,ENST00000411764,NM_001130414.1;APBA2,missense_variant,p.Val355Glu,ENST00000558330,;APBA2,missense_variant,p.Val355Glu,ENST00000561069,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;APBA2,non_coding_transcript_exon_variant,,ENST00000382938,;	A	ENST00000558402	Transcript	missense_variant	1663/4031	1064/2250	355/749	V/E	gTg/gAg		1		1	APBA2	HGNC	HGNC:579	protein_coding	YES	CCDS10022.1	ENSP00000453293	Q99767		UPI0000046798		deleterious(0.04)		7/16		hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	99	29076086	29076086	T	A	1	0	0	0	0	1	0	0	0	877	1710	59	4		4	APBA2	15	29076086	Missense_Mutation	SNP	T	C3N-02423_TP	230310	29076086	72915103	324	31243											
GOLGA8K	0	.	GRCh38	chr15	32398624	32398624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactctctaactctcctttaCgctgcaatgaatgttgcagg	9	13	7	12	1	2	1	0	1	2	0	4	1	2	1	1	1	4	4	1	1	4	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.527G>T	p.Arg176Leu	p.R176L	ENST00000512626	8/19	88	82	6	139	139	0	varscan-mutect	GOLGA8K,missense_variant,p.Arg176Leu,ENST00000512626,NM_001282493.1;RN7SL185P,upstream_gene_variant,,ENST00000615150,;RP13-395E19.3,downstream_gene_variant,,ENST00000562108,;GOLGA8K,downstream_gene_variant,,ENST00000435655,;	A	ENST00000512626	Transcript	missense_variant	528/1894	527/1893	176/630	R/L	cGt/cTt		1		-1	GOLGA8K	HGNC	HGNC:38652	protein_coding	YES	CCDS61577.1	ENSP00000426691	D6RF30		UPI0001A5E7CC	NM_001282493.1	deleterious(0.03)		8/19		hmmpanther:PTHR10881,hmmpanther:PTHR10881:SF48																	MODERATE		SNV	5			1										PASS		rs1369300791	.												A	3	1	99	32398624	32398624	C	A	1	0	0	0	0	1	0	0	0	6453	536	19	1		1	GOLGA8K	15	32398624	Missense_Mutation	SNP	C	C3N-02423_TP	3322538	32398624	69592565	325	31244											
TMCO5A	0	.	GRCh38	chr15	37951047	37951047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttaggattttttgctGtctctttttcatcaccctat	5	23	4	9	0	4	0	2	0	2	0	5	1	4	1	1	1	1	1	1	1	2	9	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.680G>T	p.Cys227Phe	p.C227F	ENST00000319669	11/11	123	102	21	167	167	0	strelka-varscan-mutect	TMCO5A,missense_variant,p.Cys227Phe,ENST00000319669,NM_152453.3;TMCO5A,intron_variant,,ENST00000559502,;TMCO5A,3_prime_UTR_variant,,ENST00000560653,;	T	ENST00000319669	Transcript	missense_variant	782/1274	680/867	227/288	C/F	tGt/tTt		1		1	TMCO5A	HGNC	HGNC:28558	protein_coding	YES	CCDS10046.1	ENSP00000327234	Q8N6Q1	A0A024R9I9	UPI00001BBFD2	NM_152453.3	tolerated(0.5)		11/11		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22422:SF7,hmmpanther:PTHR22422,Pfam_domain:PF14992																	MODERATE	1	SNV	1			1										PASS		rs759657395	.												T	3	4	99	37951047	37951047	G	T	1	0	0	0	0	1	0	0	0	16445	1377	48	2		2	TMCO5A	15	37951047	Missense_Mutation	SNP	G	C3N-02423_TP	5552423	37951047	64040142	326	31245											
UBR1	0	.	GRCh38	chr15	43002676	43002676	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaacatgaatgcgctgctGagagctcagctgtacagctt	10	10	11	10	1	2	2	2	2	0	1	2	3	2	2	0	0	7	6	0	0	3	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.3538C>T	p.Gln1180Ter	p.Q1180*	ENST00000290650	32/47	349	320	29	450	449	1	strelka-varscan-mutect	UBR1,stop_gained,p.Gln1180Ter,ENST00000290650,NM_174916.2;UBR1,downstream_gene_variant,,ENST00000568782,;UBR1,upstream_gene_variant,,ENST00000566493,;	A	ENST00000290650	Transcript	stop_gained	3617/7761	3538/5250	1180/1749	Q/*	Cag/Tag		1		-1	UBR1	HGNC	HGNC:16808	protein_coding	YES	CCDS10091.1	ENSP00000290650	Q8IWV7		UPI0000074467	NM_174916.2			32/47		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF27,Gene3D:3.30.40.10																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	99	43002676	43002676	G	A	1	0	0	0	0	0	1	0	0	17425	1299	45	3		3	UBR1	15	43002676	Nonsense_Mutation	SNP	G	C3N-02423_TP	5051629	43002676	58988513	327	31246											
CTXN2	0	.	GRCh38	chr15	48201376	48201376	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagctttctcattgactctgGagcaaaaaactggctttgct	10	13	8	10	0	2	1	1	1	2	0	3	2	2	2	0	2	4	4	0	2	3	3	rs866505882		C3N-02423_TP	C3N-02423_NB	G	G																c.76G>T	p.Glu26Ter	p.E26*	ENST00000417307	2/2	313	264	49	394	394	0	strelka-varscan-mutect	CTXN2,stop_gained,p.Glu26Ter,ENST00000417307,NM_001145668.1;SLC12A1,intron_variant,,ENST00000559641,;SLC12A1,intron_variant,,ENST00000561127,;SLC12A1,upstream_gene_variant,,ENST00000396577,NM_001184832.1;SLC12A1,upstream_gene_variant,,ENST00000380993,NM_000338.2;RP11-605F22.1,non_coding_transcript_exon_variant,,ENST00000559875,;	T	ENST00000417307	Transcript	stop_gained	448/2828	76/246	26/81	E/*	Gag/Tag	rs866505882	1		1	CTXN2	HGNC	HGNC:31109	protein_coding	YES	CCDS45254.1	ENSP00000406145	P0C2S0		UPI00005A8DAF	NM_001145668.1			2/2		hmmpanther:PTHR16736,hmmpanther:PTHR16736:SF2,Pfam_domain:PF11057,PD054489																	HIGH	1	SNV	1			1										PASS		rs866505882	.												T	4	4	99	48201376	48201376	G	T	1	0	0	0	0	0	1	0	0	3859	1175	41	2		2	CTXN2	15	48201376	Nonsense_Mutation	SNP	G	C3N-02423_TP	5198700	48201376	53789813	328	31247											
SLC27A2	0	.	GRCh38	chr15	50182571	50182571	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcgcagctacgggaaGcggcggccggcgcgcaccat	7	3	18	13	7	0	0	0	0	0	0	0	1	0	1	2	5	4	3	2	5	2	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.144G>A	p.=	p.K48K	ENST00000267842	1/10	282	256	26	280	280	0	strelka-varscan-mutect	SLC27A2,synonymous_variant,p.=,ENST00000267842,NM_003645.3;SLC27A2,synonymous_variant,p.=,ENST00000380902,NM_001159629.1;ATP8B4,5_prime_UTR_variant,,ENST00000558829,;	A	ENST00000267842	Transcript	synonymous_variant	376/2394	144/1863	48/620	K	aaG/aaA		1		1	SLC27A2	HGNC	HGNC:10996	protein_coding	YES	CCDS10133.1	ENSP00000267842	O14975		UPI000013D776	NM_003645.3			1/10		hmmpanther:PTHR24096:SF127,hmmpanther:PTHR24096																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	50182571	50182571	G	A	1	0	0	0	0	0	0	0	1	14796	962	34	3		3	SLC27A2	15	50182571	Silent	SNP	G	C3N-02423_TP	1981195	50182571	51808618	329	31248											
NEO1	0	.	GRCh38	chr15	73273855	73273855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgaatgcagagatacatGactgggttattgagcctgtt	11	13	12	5	0	0	4	0	3	0	1	0	5	0	4	1	1	3	3	1	1	3	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.3010G>A	p.Asp1004Asn	p.D1004N	ENST00000339362	21/30	165	153	12	167	166	1	strelka-varscan-mutect	NEO1,missense_variant,p.Asp1004Asn,ENST00000339362,;NEO1,missense_variant,p.Asp1004Asn,ENST00000261908,NM_002499.3;NEO1,missense_variant,p.Asp684Asn,ENST00000560328,;NEO1,missense_variant,p.Asp1004Asn,ENST00000558964,NM_001172624.1;NEO1,missense_variant,p.Asp1004Asn,ENST00000560262,NM_001172623.1;	A	ENST00000339362	Transcript	missense_variant	3457/7342	3010/4386	1004/1461	D/N	Gac/Aac		1		1	NEO1	HGNC	HGNC:7754	protein_coding	YES	CCDS10247.1	ENSP00000341198	Q92859		UPI000013D221		deleterious(0.04)		21/30		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF55,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	99	73273855	73273855	G	A	1	0	0	0	0	1	0	0	0	10370	1290	45	3		3	NEO1	15	73273855	Missense_Mutation	SNP	G	C3N-02423_TP	23091284	73273855	28717334	330	31249											
LMAN1L	0	.	GRCh38	chr15	74821865	74821865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagattccatccaccccaGggaggggtggccacctctcc	7	6	11	17	0	1	1	0	0	1	1	4	2	3	2	8	4	0	0	8	4	0	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1096G>T	p.Gly366Trp	p.G366W	ENST00000309664	10/14	85	78	7	92	91	1	strelka-varscan-mutect	LMAN1L,missense_variant,p.Gly366Trp,ENST00000309664,NM_021819.2;LMAN1L,missense_variant,p.Gly354Trp,ENST00000379709,;LMAN1L,missense_variant,p.Gly47Trp,ENST00000567848,;CPLX3,upstream_gene_variant,,ENST00000395018,NM_001030005.2;RP11-414J4.2,non_coding_transcript_exon_variant,,ENST00000564823,;RP11-414J4.2,non_coding_transcript_exon_variant,,ENST00000488000,;LMAN1L,non_coding_transcript_exon_variant,,ENST00000565585,;LMAN1L,downstream_gene_variant,,ENST00000470711,;LMAN1L,downstream_gene_variant,,ENST00000456603,;LMAN1L,upstream_gene_variant,,ENST00000566046,;	T	ENST00000309664	Transcript	missense_variant	1235/1873	1096/1581	366/526	G/W	Ggg/Tgg		1		1	LMAN1L	HGNC	HGNC:6632	protein_coding	YES	CCDS10270.1	ENSP00000310431	Q9HAT1		UPI00001AEF1F	NM_021819.2	deleterious(0)		10/14		hmmpanther:PTHR12223,hmmpanther:PTHR12223:SF31																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	74821865	74821865	G	T	1	0	0	0	0	1	0	0	0	8761	1000	35	2		2	LMAN1L	15	74821865	Missense_Mutation	SNP	G	C3N-02423_TP	1548010	74821865	27169324	331	31250											
C15orf39	0	.	GRCh38	chr15	75210832	75210832	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagagcctagccctggctCagaagtcaccggcccccaag	10	4	11	16	1	2	2	2	0	0	2	2	3	2	2	5	2	2	1	5	2	3	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.2860C>T	p.Gln954Ter	p.Q954*	ENST00000360639	3/3	205	182	23	191	191	0	strelka-mutect	C15orf39,stop_gained,p.Gln954Ter,ENST00000360639,;C15orf39,stop_gained,p.Gln954Ter,ENST00000394987,NM_015492.4;C15orf39,3_prime_UTR_variant,,ENST00000567617,;C15orf39,downstream_gene_variant,,ENST00000565074,;C15orf39,downstream_gene_variant,,ENST00000563905,;C15orf39,downstream_gene_variant,,ENST00000562637,;C15orf39,downstream_gene_variant,,ENST00000564848,;RP11-69H7.3,downstream_gene_variant,,ENST00000563568,;	T	ENST00000360639	Transcript	stop_gained	3180/4517	2860/3144	954/1047	Q/*	Cag/Tag		1		1	C15orf39	HGNC	HGNC:24497	protein_coding	YES	CCDS10276.1	ENSP00000353854	Q6ZRI6		UPI000004F079				3/3		hmmpanther:PTHR28422																	HIGH	1	SNV	2			1										PASS		.	.												T	4	4	99	75210832	75210832	C	T	1	0	0	0	0	0	1	0	0	1843	827	29	3		3	C15orf39	15	75210832	Nonsense_Mutation	SNP	C	C3N-02423_TP	388967	75210832	26780357	332	31251											
FSD2	0	.	GRCh38	chr15	82762117	82762117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaccttgatgatgcaaatGtgtgcctcatgcaccaggag	10	12	10	9	0	1	2	1	2	0	0	1	3	1	3	3	1	4	2	3	1	2	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1982C>A	p.Thr661Lys	p.T661K	ENST00000334574	12/13	111	97	14	148	148	0	strelka-varscan-mutect	FSD2,missense_variant,p.Thr661Lys,ENST00000334574,NM_001007122.3;FSD2,missense_variant,p.Thr616Lys,ENST00000541889,NM_001281806.1,NM_001281805.1;SNHG21,downstream_gene_variant,,ENST00000561107,;SNHG21,downstream_gene_variant,,ENST00000558174,;SNHG21,downstream_gene_variant,,ENST00000559366,;SCARNA15,downstream_gene_variant,,ENST00000607520,;	T	ENST00000334574	Transcript	missense_variant	2164/6418	1982/2250	661/749	T/K	aCa/aAa		1		-1	FSD2	HGNC	HGNC:18024	protein_coding	YES	CCDS45332.1	ENSP00000335651	A1L4K1		UPI0000161097	NM_001007122.3	tolerated(0.21)		12/13		PROSITE_profiles:PS50188,hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF6,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	82762117	82762117	G	T	1	0	0	0	0	1	0	0	0	5945	1377	48	2		2	FSD2	15	82762117	Missense_Mutation	SNP	G	C3N-02423_TP	7551285	82762117	19229072	333	31252											
ACAN	0	.	GRCh38	chr15	88838685	88838685	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacaactcgctgagtgtCagcatcccccaaccgtcccc	9	7	7	18	2	1	2	1	2	0	0	4	2	3	2	5	0	3	2	5	0	2	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.93C>A	p.=	p.V31V	ENST00000439576	3/18	25	19	6	43	43	0	strelka-varscan-mutect	ACAN,synonymous_variant,p.=,ENST00000439576,NM_013227.3;ACAN,synonymous_variant,p.=,ENST00000617301,;ACAN,synonymous_variant,p.=,ENST00000559004,;ACAN,synonymous_variant,p.=,ENST00000561243,;ACAN,synonymous_variant,p.=,ENST00000352105,NM_001135.3;ACAN,synonymous_variant,p.=,ENST00000558207,;	A	ENST00000439576	Transcript	synonymous_variant	467/8840	93/7593	31/2530	V	gtC/gtA		1		1	ACAN	HGNC	HGNC:319	protein_coding	YES	CCDS53970.1	ENSP00000387356		E7EX88	UPI0001B23381	NM_013227.3			3/18		hmmpanther:PTHR22804:SF42,hmmpanther:PTHR22804																	LOW	1	SNV	5			1										PASS		rs1457808102	.												A	2	1	99	88838685	88838685	C	A	1	0	0	0	0	0	0	0	1	160	813	29	2		2	ACAN	15	88838685	Silent	SNP	C	C3N-02423_TP	6076568	88838685	13152504	334	31253											
TICRR	0	.	GRCh38	chr15	89625525	89625525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcccatcttggaggattttGagctcgagggagtgtgccag	7	10	15	9	2	1	1	0	1	1	0	2	5	1	4	2	3	2	1	2	3	0	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.5215G>C	p.Glu1739Gln	p.E1739Q	ENST00000268138	20/22	286	269	17	337	337	0	strelka-varscan-mutect	TICRR,missense_variant,p.Glu1739Gln,ENST00000268138,NM_152259.3;TICRR,missense_variant,p.Glu1738Gln,ENST00000560985,NM_001308025.1;KIF7,downstream_gene_variant,,ENST00000394412,NM_198525.2;KIF7,intron_variant,,ENST00000558928,;TICRR,missense_variant,p.Glu43Gln,ENST00000561095,;	C	ENST00000268138	Transcript	missense_variant	5320/6775	5215/5733	1739/1910	E/Q	Gag/Cag		1		1	TICRR	HGNC	HGNC:28704	protein_coding	YES	CCDS10352.2	ENSP00000268138	Q7Z2Z1		UPI0000D61399	NM_152259.3	deleterious(0)		20/22		hmmpanther:PTHR21556																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	99	89625525	89625525	G	C	1	0	0	0	0	1	0	0	0	16328	1291	45	4		4	TICRR	15	89625525	Missense_Mutation	SNP	G	C3N-02423_TP	786840	89625525	12365664	335	31254											
AC004754.3	0	.	GRCh38	chr16	254659	254659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggcgtcacagcgaatgtgGaggatagactacagtgccgc	10	6	14	11	4	1	1	1	0	0	1	1	4	1	3	2	3	3	0	2	3	3	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.246G>T	p.Trp82Cys	p.W82C	ENST00000399932	3/13	196	181	15	178	178	0	strelka-varscan-mutect	FAM234A,missense_variant,p.Trp82Cys,ENST00000399932,NM_001284497.1,NM_032039.3;FAM234A,missense_variant,p.Trp82Cys,ENST00000301678,;AC004754.3,missense_variant,p.Trp82Cys,ENST00000600536,;FAM234A,missense_variant,p.Trp82Cys,ENST00000301679,;FAM234A,missense_variant,p.Trp82Cys,ENST00000420046,;FAM234A,missense_variant,p.Trp82Cys,ENST00000453430,;FAM234A,missense_variant,p.Trp82Cys,ENST00000449945,;FAM234A,missense_variant,p.Trp11Cys,ENST00000421000,;FAM234A,missense_variant,p.Trp82Cys,ENST00000419173,;FAM234A,missense_variant,p.Trp82Cys,ENST00000438220,;FAM234A,missense_variant,p.Trp82Cys,ENST00000420500,;FAM234A,missense_variant,p.Trp82Cys,ENST00000447499,;FAM234A,downstream_gene_variant,,ENST00000417499,;FAM234A,downstream_gene_variant,,ENST00000426695,;FAM234A,non_coding_transcript_exon_variant,,ENST00000496874,;	T	ENST00000399932	Transcript	missense_variant	697/3213	246/1659	82/552	W/C	tgG/tgT		1		1	FAM234A	HGNC	HGNC:14163	protein_coding	YES	CCDS10402.1	ENSP00000382814	Q9H0X4		UPI000006DF0D	NM_001284497.1,NM_032039.3	deleterious(0)		3/13		hmmpanther:PTHR21419,hmmpanther:PTHR21419:SF7,Superfamily_domains:SSF50998																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	254659	254659	G	T	1	0	0	0	0	1	0	0	0	115	1183	41	2		2	AC004754.3	16	254659	Missense_Mutation	SNP	G	C3N-02423_TP		254659	90083686	336	31255											
AXIN1	0	.	GRCh38	chr16	297138	297138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctggttcttctccgcatCctccgaggcacctggcacct	4	13	8	16	2	3	0	0	0	3	0	6	1	5	0	5	3	0	4	5	3	0	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1873G>T	p.Asp625Tyr	p.D625Y	ENST00000262320	7/11	330	308	22	305	305	0	strelka-varscan-mutect	AXIN1,missense_variant,p.Asp625Tyr,ENST00000262320,NM_003502.3;AXIN1,missense_variant,p.Asp625Tyr,ENST00000354866,NM_181050.2;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,downstream_gene_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;	A	ENST00000262320	Transcript	missense_variant	2245/3643	1873/2589	625/862	D/Y	Gat/Tat		1		-1	AXIN1	HGNC	HGNC:903	protein_coding	YES	CCDS10405.1	ENSP00000262320	O15169	A0A0S2Z4R0	UPI000012669E	NM_003502.3	deleterious(0)		7/11																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	297138	297138	C	A	1	0	0	0	0	1	0	0	0	1393	855	30	2		2	AXIN1	16	297138	Missense_Mutation	SNP	C	C3N-02423_TP	42479	297138	90041207	337	31256											
JMJD8	0	.	GRCh38	chr16	684306	684306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagagcgcgagcaaccgcGacgccggcgccatgagcctg	8	2	14	17	7	0	2	0	1	0	1	0	4	0	2	5	1	4	1	5	1	1	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.77C>T	p.Ser26Leu	p.S26L	ENST00000412368	1/9	175	164	11	111	110	1	strelka-varscan-mutect	JMJD8,missense_variant,p.Ser26Leu,ENST00000412368,NM_001323918.1,NM_001005920.2;JMJD8,missense_variant,p.Ser5Leu,ENST00000609261,;JMJD8,missense_variant,p.Ser5Leu,ENST00000562824,;JMJD8,missense_variant,p.Ser5Leu,ENST00000562111,;WDR24,downstream_gene_variant,,ENST00000293883,NM_032259.3;WDR24,downstream_gene_variant,,ENST00000248142,;STUB1,downstream_gene_variant,,ENST00000565677,NM_001293197.1;STUB1,downstream_gene_variant,,ENST00000219548,NM_005861.3;STUB1,downstream_gene_variant,,ENST00000564370,;STUB1,downstream_gene_variant,,ENST00000567173,;STUB1,downstream_gene_variant,,ENST00000564316,;STUB1,downstream_gene_variant,,ENST00000566408,;LA16c-313D11.9,upstream_gene_variant,,ENST00000571933,;LA16c-313D11.9,upstream_gene_variant,,ENST00000567091,;STUB1,downstream_gene_variant,,ENST00000566181,;JMJD8,non_coding_transcript_exon_variant,,ENST00000567120,;JMJD8,non_coding_transcript_exon_variant,,ENST00000568689,;JMJD8,non_coding_transcript_exon_variant,,ENST00000565302,;JMJD8,non_coding_transcript_exon_variant,,ENST00000569441,;JMJD8,non_coding_transcript_exon_variant,,ENST00000569396,;JMJD8,non_coding_transcript_exon_variant,,ENST00000566199,;LA16c-313D11.12,upstream_gene_variant,,ENST00000575305,;STUB1,downstream_gene_variant,,ENST00000569248,;JMJD8,upstream_gene_variant,,ENST00000563088,;JMJD8,upstream_gene_variant,,ENST00000568313,;STUB1,downstream_gene_variant,,ENST00000563505,;JMJD8,upstream_gene_variant,,ENST00000570037,;JMJD8,upstream_gene_variant,,ENST00000567901,;WDR24,downstream_gene_variant,,ENST00000567014,;JMJD8,upstream_gene_variant,,ENST00000564436,;JMJD8,upstream_gene_variant,,ENST00000565258,;STUB1,downstream_gene_variant,,ENST00000567790,;STUB1,downstream_gene_variant,,ENST00000565813,;	A	ENST00000412368	Transcript	missense_variant	134/2038	77/858	26/285	S/L	tCg/tTg		1		-1	JMJD8	HGNC	HGNC:14148	protein_coding	YES	CCDS45369.1	ENSP00000399475	Q96S16		UPI0000471011	NM_001323918.1,NM_001005920.2	tolerated_low_confidence(0.12)		1/9		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12480:SF18,hmmpanther:PTHR12480																	MODERATE	1	SNV	1			1										PASS		rs1244807531	.												A	3	1	99	684306	684306	G	A	1	0	0	0	0	1	0	0	0	7868	1059	37	1		1	JMJD8	16	684306	Missense_Mutation	SNP	G	C3N-02423_TP	387168	684306	89654039	338	31257											
WDR24	0	.	GRCh38	chr16	686180	686180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagcatggtccacgtttGcgccacctaggggcgggcac	6	6	14	15	4	0	0	0	0	0	0	1	0	1	0	4	4	2	4	4	4	1	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1339C>G	p.Gln447Glu	p.Q447E	ENST00000293883	4/9	128	121	7	99	99	0	strelka-varscan-mutect	WDR24,missense_variant,p.Gln447Glu,ENST00000293883,NM_032259.3;WDR24,missense_variant,p.Gln577Glu,ENST00000248142,;JMJD8,upstream_gene_variant,,ENST00000412368,NM_001323918.1,NM_001005920.2;JMJD8,upstream_gene_variant,,ENST00000609261,;STUB1,downstream_gene_variant,,ENST00000565677,NM_001293197.1;STUB1,downstream_gene_variant,,ENST00000219548,NM_005861.3;JMJD8,upstream_gene_variant,,ENST00000562824,;STUB1,downstream_gene_variant,,ENST00000564370,;JMJD8,upstream_gene_variant,,ENST00000562111,;STUB1,downstream_gene_variant,,ENST00000567173,;STUB1,downstream_gene_variant,,ENST00000564316,;STUB1,downstream_gene_variant,,ENST00000566408,;LA16c-313D11.12,upstream_gene_variant,,ENST00000566927,;STUB1,downstream_gene_variant,,ENST00000566181,;WDR24,non_coding_transcript_exon_variant,,ENST00000567014,;LA16c-313D11.12,upstream_gene_variant,,ENST00000575305,;JMJD8,upstream_gene_variant,,ENST00000567120,;JMJD8,upstream_gene_variant,,ENST00000568689,;JMJD8,upstream_gene_variant,,ENST00000565302,;STUB1,downstream_gene_variant,,ENST00000569248,;JMJD8,upstream_gene_variant,,ENST00000569441,;JMJD8,upstream_gene_variant,,ENST00000563088,;JMJD8,upstream_gene_variant,,ENST00000568313,;STUB1,downstream_gene_variant,,ENST00000563505,;JMJD8,upstream_gene_variant,,ENST00000570037,;JMJD8,upstream_gene_variant,,ENST00000567901,;JMJD8,upstream_gene_variant,,ENST00000569396,;JMJD8,upstream_gene_variant,,ENST00000566199,;JMJD8,upstream_gene_variant,,ENST00000564436,;JMJD8,upstream_gene_variant,,ENST00000565258,;STUB1,downstream_gene_variant,,ENST00000567790,;STUB1,downstream_gene_variant,,ENST00000565813,;	C	ENST00000293883	Transcript	missense_variant	2099/3245	1339/2373	447/790	Q/E	Caa/Gaa		1		-1	WDR24	HGNC	HGNC:20852	protein_coding	YES	CCDS10420.1	ENSP00000293883	Q96S15		UPI0000037D32	NM_032259.3	tolerated(0.28)		4/9																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	686180	686180	G	C	1	0	0	0	0	1	0	0	0	17841	1328	46	4		4	WDR24	16	686180	Missense_Mutation	SNP	G	C3N-02423_TP	1874	686180	89652165	339	31258											
NARFL	0	.	GRCh38	chr16	732358	732358	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgccctcttcctccagcAacctgaaaacttctcctgca	10	9	5	17	1	2	2	0	1	2	1	5	2	4	2	5	0	4	2	5	0	3	2	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.839T>C	p.Leu280Ser	p.L280S	ENST00000251588	8/11	180	158	22	188	188	0	strelka-varscan-mutect	NARFL,missense_variant,p.Leu178Ser,ENST00000540986,NM_001304799.1;NARFL,missense_variant,p.Leu178Ser,ENST00000568545,;NARFL,missense_variant,p.Leu280Ser,ENST00000251588,NM_022493.2;NARFL,missense_variant,p.Leu178Ser,ENST00000562421,;HAGHL,downstream_gene_variant,,ENST00000549114,;HAGHL,downstream_gene_variant,,ENST00000341413,;HAGHL,downstream_gene_variant,,ENST00000564537,;HAGHL,downstream_gene_variant,,ENST00000389703,NM_001290137.1,NM_001290139.1,NM_032304.3;HAGHL,downstream_gene_variant,,ENST00000561546,;HAGHL,downstream_gene_variant,,ENST00000568141,;HAGHL,downstream_gene_variant,,ENST00000567414,;HAGHL,downstream_gene_variant,,ENST00000564545,;HAGHL,downstream_gene_variant,,ENST00000562141,;NARFL,downstream_gene_variant,,ENST00000567403,;NARFL,downstream_gene_variant,,ENST00000566614,;HAGHL,downstream_gene_variant,,ENST00000563792,;HAGHL,downstream_gene_variant,,ENST00000562187,;NARFL,non_coding_transcript_exon_variant,,ENST00000562862,;HAGHL,intron_variant,,ENST00000563156,;HAGHL,upstream_gene_variant,,ENST00000569604,;NARFL,downstream_gene_variant,,ENST00000563534,;NARFL,downstream_gene_variant,,ENST00000567455,;NARFL,downstream_gene_variant,,ENST00000569759,;NARFL,3_prime_UTR_variant,,ENST00000565425,;NARFL,non_coding_transcript_exon_variant,,ENST00000563051,;NARFL,non_coding_transcript_exon_variant,,ENST00000566650,;NARFL,non_coding_transcript_exon_variant,,ENST00000564285,;HAGHL,downstream_gene_variant,,ENST00000567696,;NARFL,downstream_gene_variant,,ENST00000565341,;HAGHL,downstream_gene_variant,,ENST00000389701,;NARFL,downstream_gene_variant,,ENST00000562752,;HAGHL,downstream_gene_variant,,ENST00000561750,;NARFL,downstream_gene_variant,,ENST00000565065,;NARFL,downstream_gene_variant,,ENST00000570066,;HAGHL,downstream_gene_variant,,ENST00000569143,;NARFL,downstream_gene_variant,,ENST00000570289,;HAGHL,downstream_gene_variant,,ENST00000569385,;HAGHL,downstream_gene_variant,,ENST00000561561,;	G	ENST00000251588	Transcript	missense_variant	856/2112	839/1431	280/476	L/S	tTg/tCg		1		-1	NARFL	HGNC	HGNC:14179	protein_coding	YES	CCDS10425.1	ENSP00000251588	Q9H6Q4		UPI0000070186	NM_022493.2	deleterious(0)		8/11		Gene3D:1hfeL01,Pfam_domain:PF02906,hmmpanther:PTHR11615,hmmpanther:PTHR11615:SF103,Superfamily_domains:SSF53920																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	732358	732358	A	G	1	0	0	0	0	1	0	0	0	10178	131	5	5		5	NARFL	16	732358	Missense_Mutation	SNP	A	C3N-02423_TP	46178	732358	89605987	340	31259											
CRAMP1	0	.	GRCh38	chr16	1659953	1659953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggagcagtcgatgacgcCcccagggaaggtggtgaccg	9	4	18	10	3	0	2	0	2	0	0	1	6	0	5	3	5	1	1	3	5	1	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.2303C>T	p.Pro768Leu	p.P768L	ENST00000397412	11/21	292	265	27	263	263	0	strelka-varscan-mutect	CRAMP1,missense_variant,p.Pro768Leu,ENST00000397412,;CRAMP1,missense_variant,p.Pro768Leu,ENST00000293925,NM_020825.3;CRAMP1,upstream_gene_variant,,ENST00000415022,;LA16c-431H6.6,3_prime_UTR_variant,,ENST00000454337,;CRAMP1,upstream_gene_variant,,ENST00000492778,;CRAMP1,upstream_gene_variant,,ENST00000498594,;CRAMP1,upstream_gene_variant,,ENST00000466562,;	T	ENST00000397412	Transcript	missense_variant	2402/7772	2303/3810	768/1269	P/L	cCc/cTc		1		1	CRAMP1	HGNC	HGNC:14122	protein_coding	YES	CCDS10440.2	ENSP00000380559	Q96RY5		UPI000066D946		deleterious(0.01)		11/21		hmmpanther:PTHR21677:SF1,hmmpanther:PTHR21677																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	99	1659953	1659953	C	T	1	0	0	0	0	1	0	0	0	3646	623	22	3		3	CRAMP1	16	1659953	Missense_Mutation	SNP	C	C3N-02423_TP	927595	1659953	88678392	341	31260											
SRRM2	0	.	GRCh38	chr16	2761908	2761908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttctcccacatctaaGaatcgctcacatggccgagc	9	11	6	15	2	5	1	1	0	4	1	7	2	5	1	2	1	1	1	2	1	2	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1380G>T	p.Lys460Asn	p.K460N	ENST00000301740	11/15	147	123	24	152	152	0	strelka-varscan-mutect	SRRM2,missense_variant,p.Lys460Asn,ENST00000301740,NM_016333.3;SRRM2,missense_variant,p.Lys460Asn,ENST00000576924,;SRRM2,missense_variant,p.Lys364Asn,ENST00000571378,;SRRM2,intron_variant,,ENST00000630499,;SRRM2,downstream_gene_variant,,ENST00000575009,;SRRM2,downstream_gene_variant,,ENST00000570971,;SRRM2,downstream_gene_variant,,ENST00000574340,;SRRM2,downstream_gene_variant,,ENST00000576415,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,downstream_gene_variant,,ENST00000575870,;SRRM2,upstream_gene_variant,,ENST00000576674,;SRRM2,non_coding_transcript_exon_variant,,ENST00000572952,;SRRM2,downstream_gene_variant,,ENST00000576894,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,downstream_gene_variant,,ENST00000576076,;SRRM2,downstream_gene_variant,,ENST00000575701,;SRRM2,downstream_gene_variant,,ENST00000570655,;SRRM2,downstream_gene_variant,,ENST00000571372,;SRRM2,downstream_gene_variant,,ENST00000573451,;	T	ENST00000301740	Transcript	missense_variant	1929/9353	1380/8259	460/2752	K/N	aaG/aaT		1		1	SRRM2	HGNC	HGNC:16639	protein_coding	YES	CCDS32373.1	ENSP00000301740	Q9UQ35	A0A140VK53	UPI000049DDFC	NM_016333.3	deleterious_low_confidence(0)		11/15		hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093																	MODERATE	1	SNV	1			1										PASS		rs1212729544	.												T	3	4	99	2761908	2761908	G	T	1	0	0	0	0	1	0	0	0	15530	933	33	2		2	SRRM2	16	2761908	Missense_Mutation	SNP	G	C3N-02423_TP	1101955	2761908	87576437	342	31261											
SLX4	0	.	GRCh38	chr16	3583176	3583176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgggatctgggcgtcatCattgaggcctggaggtgcct	5	10	17	9	1	3	1	2	1	1	0	3	3	3	3	2	6	1	1	2	6	0	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.5074G>C	p.Asp1692His	p.D1692H	ENST00000294008	14/15	384	363	21	410	409	1	strelka-varscan-mutect	SLX4,missense_variant,p.Asp1692His,ENST00000294008,NM_032444.2;RP11-461A8.1,non_coding_transcript_exon_variant,,ENST00000573982,;	G	ENST00000294008	Transcript	missense_variant	5715/7307	5074/5505	1692/1834	D/H	Gat/Cat		1		-1	SLX4	HGNC	HGNC:23845	protein_coding	YES	CCDS10506.2	ENSP00000294008	Q8IY92		UPI000050D2C5	NM_032444.2	deleterious(0.03)		14/15		hmmpanther:PTHR21541,hmmpanther:PTHR21541:SF3																	MODERATE		SNV	5			1										PASS		.	.												G	3	3	99	3583176	3583176	C	G	1	0	0	0	0	1	0	0	0	15048	826	29	4		4	SLX4	16	3583176	Missense_Mutation	SNP	C	C3N-02423_TP	821268	3583176	86755169	343	31262											
ERCC4	0	.	GRCh38	chr16	13932236	13932236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcttccagatgccaaaatGagtaaaaaagaaaaaatatc	21	8	5	7	0	1	3	0	1	1	2	3	3	2	3	2	0	1	1	2	0	9	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1053G>A	p.Met351Ile	p.M351I	ENST00000311895	6/11	181	168	13	209	208	1	strelka-varscan-mutect	ERCC4,missense_variant,p.Met351Ile,ENST00000311895,NM_005236.2;ERCC4,missense_variant,p.Met351Ile,ENST00000575156,;CTD-2135D7.2,non_coding_transcript_exon_variant,,ENST00000575137,;CTD-2135D7.2,intron_variant,,ENST00000570663,;ERCC4,downstream_gene_variant,,ENST00000574781,;ERCC4,3_prime_UTR_variant,,ENST00000574194,;ERCC4,non_coding_transcript_exon_variant,,ENST00000389138,;ERCC4,upstream_gene_variant,,ENST00000573018,;	A	ENST00000311895	Transcript	missense_variant	1062/6758	1053/2751	351/916	M/I	atG/atA		1		1	ERCC4	HGNC	HGNC:3436	protein_coding	YES	CCDS32390.1	ENSP00000310520	Q92889		UPI0000161BBF	NM_005236.2	tolerated_low_confidence(0.3)		6/11		hmmpanther:PTHR10150,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00596																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	13932236	13932236	G	A	1	0	0	0	0	1	0	0	0	5064	1290	45	3		3	ERCC4	16	13932236	Missense_Mutation	SNP	G	C3N-02423_TP	10349060	13932236	76406109	344	31263											
NOMO1	0	.	GRCh38	chr16	14880136	14880136	+	Missense_Mutation	SNP	C	C	A																															catcacggggtaccgaaccgCttacaggtaagtgccctggc																								novel		C3N-02423_TP	C3N-02423_NB	C	C																c.2879C>A	p.Ala960Asp	p.A960D	ENST00000287667	24/31	124	108	16	118	118	0	varscan-mutect	NOMO1,missense_variant,p.Ala960Asp,ENST00000287667,NM_014287.3;NOMO1,missense_variant,p.Ala960Asp,ENST00000620755,;NOMO1,missense_variant,p.Ala793Asp,ENST00000610363,;	A	ENST00000287667	Transcript	missense_variant	3050/4355	2879/3669	960/1222	A/D	gCt/gAt		1		1	NOMO1	HGNC	HGNC:30060	protein_coding	YES	CCDS10556.1	ENSP00000287667	Q15155		UPI000013D37E	NM_014287.3	deleterious(0)		24/31		hmmpanther:PTHR23303																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	14880136	14880136	C	A	1	0	0	0	0	1	0	0	0	10575	797	28	2		2	NOMO1	16	14880136	Missense_Mutation	SNP	C	C3N-02423_TP	947900	14880136	75458209	345	31264	639	2									
NOMO1	0	.	GRCh38	chr16	14880138	14880138	+	Missense_Mutation	SNP	T	T	A																															tcacggggtaccgaaccgctTacaggtaagtgccctggcca																								novel		C3N-02423_TP	C3N-02423_NB	T	T																c.2881T>A	p.Tyr961Asn	p.Y961N	ENST00000287667	24/31	122	107	15	120	120	0	varscan-mutect	NOMO1,missense_variant,p.Tyr961Asn,ENST00000287667,NM_014287.3;NOMO1,missense_variant,p.Tyr961Asn,ENST00000620755,;NOMO1,missense_variant,p.Tyr794Asn,ENST00000610363,;	A	ENST00000287667	Transcript	missense_variant	3052/4355	2881/3669	961/1222	Y/N	Tac/Aac		1		1	NOMO1	HGNC	HGNC:30060	protein_coding	YES	CCDS10556.1	ENSP00000287667	Q15155		UPI000013D37E	NM_014287.3	deleterious(0)		24/31		hmmpanther:PTHR23303																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	14880138	14880138	T	A	1	0	0	0	0	1	0	0	0	10575	1768	61	4		4	NOMO1	16	14880138	Missense_Mutation	SNP	T	C3N-02423_TP	2	14880138	75458207	346	31265	639	2									
PDXDC1	0	.	GRCh38	chr16	15004240	15004240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgttgggacatagtctggGagcttatatttcaactctgg	8	16	11	6	0	3	0	1	0	2	0	3	2	3	2	0	3	2	2	0	3	4	6	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.296G>A	p.Gly99Glu	p.G99E	ENST00000396410	5/23	293	276	17	287	287	0	strelka-varscan-mutect	PDXDC1,missense_variant,p.Gly99Glu,ENST00000396410,NM_001324019.1,NM_015027.3;PDXDC1,missense_variant,p.Gly72Glu,ENST00000569715,NM_001285444.1;PDXDC1,missense_variant,p.Gly117Glu,ENST00000563679,NM_001285447.1;PDXDC1,missense_variant,p.Gly71Glu,ENST00000627450,NM_001285445.1;PDXDC1,missense_variant,p.Gly99Glu,ENST00000455313,NM_001285450.1;PDXDC1,missense_variant,p.Gly99Glu,ENST00000535621,NM_001324020.1,NM_001285449.1;PDXDC1,missense_variant,p.Gly99Glu,ENST00000325823,;PDXDC1,missense_variant,p.Gly84Glu,ENST00000567306,;PDXDC1,missense_variant,p.Gly84Glu,ENST00000563522,;PDXDC1,missense_variant,p.Gly144Glu,ENST00000563667,;PDXDC1,intron_variant,,ENST00000450288,NM_001285448.1;PDXDC1,3_prime_UTR_variant,,ENST00000565362,;PDXDC1,non_coding_transcript_exon_variant,,ENST00000570001,;PDXDC1,intron_variant,,ENST00000562119,;	A	ENST00000396410	Transcript	missense_variant	393/4521	296/2367	99/788	G/E	gGa/gAa		1		1	PDXDC1	HGNC	HGNC:28995	protein_coding	YES	CCDS32393.1	ENSP00000379691	Q6P996		UPI000004A864	NM_001324019.1,NM_015027.3	deleterious(0)		5/23		hmmpanther:PTHR11999:SF108,hmmpanther:PTHR11999,Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	15004240	15004240	G	A	1	0	0	0	0	1	0	0	0	11784	1174	41	3		3	PDXDC1	16	15004240	Missense_Mutation	SNP	G	C3N-02423_TP	124102	15004240	75334105	347	31266											
SMG1	0	.	GRCh38	chr16	18869128	18869128	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattgtctggaaggtgtcttGagctctgcccagtggggttc	6	13	14	8	0	3	1	0	1	3	0	4	2	3	2	1	4	2	2	1	4	2	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2809C>G	p.Gln937Glu	p.Q937E	ENST00000446231	20/63	250	233	17	254	254	0	varscan-mutect	SMG1,missense_variant,p.Gln937Glu,ENST00000446231,NM_015092.4;SMG1,missense_variant,p.Gln827Glu,ENST00000565324,;SMG1,missense_variant,p.Gln368Glu,ENST00000563235,;SMG1,upstream_gene_variant,,ENST00000566328,;SMG1,missense_variant,p.Gln283Glu,ENST00000568038,;	C	ENST00000446231	Transcript	missense_variant	3222/16115	2809/10986	937/3661	Q/E	Caa/Gaa		1		-1	SMG1	HGNC	HGNC:30045	protein_coding	YES	CCDS45430.1	ENSP00000402515	Q96Q15		UPI00004F8E22	NM_015092.4	deleterious(0.01)		20/63		Pfam_domain:PF15785,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF71																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	18869128	18869128	G	C	1	0	0	0	0	1	0	0	0	15089	1299	45	4		4	SMG1	16	18869128	Missense_Mutation	SNP	G	C3N-02423_TP	3864888	18869128	71469217	348	31267											
SMG1	0	.	GRCh38	chr16	18870862	18870862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagactgctgcatgcctgcaGacagatattcacatcttcaa	12	11	7	11	0	3	3	2	0	1	3	3	3	3	3	1	0	4	3	1	0	3	4	rs138302613		C3N-02423_TP	C3N-02423_NB	G	G																c.2329C>G	p.Leu777Val	p.L777V	ENST00000446231	17/63	149	141	8	140	140	0	varscan-mutect	SMG1,missense_variant,p.Leu777Val,ENST00000446231,NM_015092.4;SMG1,missense_variant,p.Leu667Val,ENST00000565324,;SMG1,missense_variant,p.Leu208Val,ENST00000563235,;SMG1,downstream_gene_variant,,ENST00000561947,;SMG1,downstream_gene_variant,,ENST00000565224,;SMG1,upstream_gene_variant,,ENST00000566328,;SMG1,missense_variant,p.Leu123Val,ENST00000568038,;	C	ENST00000446231	Transcript	missense_variant	2742/16115	2329/10986	777/3661	L/V	Ctg/Gtg	rs138302613	1		-1	SMG1	HGNC	HGNC:30045	protein_coding	YES	CCDS45430.1	ENSP00000402515	Q96Q15		UPI00004F8E22	NM_015092.4	deleterious(0.04)		17/63		Pfam_domain:PF15785,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF71,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs138302613	.												C	3	2	99	18870862	18870862	G	C	1	0	0	0	0	1	0	0	0	15089	933	33	4		4	SMG1	16	18870862	Missense_Mutation	SNP	G	C3N-02423_TP	1734	18870862	71467483	349	31268											
KIAA0556	0	.	GRCh38	chr16	27777745	27777745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggacagggacatccgcCaccaggagaaacacaccacc	14	1	10	16	2	0	1	0	0	0	1	1	5	1	3	6	3	1	0	6	3	1	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.4687C>T	p.His1563Tyr	p.H1563Y	ENST00000261588	26/28	96	77	19	112	112	0	strelka-varscan-mutect	KIAA0556,missense_variant,p.His1563Tyr,ENST00000261588,NM_015202.2;KIAA0556,non_coding_transcript_exon_variant,,ENST00000568622,;	T	ENST00000261588	Transcript	missense_variant	4706/6616	4687/4857	1563/1618	H/Y	Cac/Tac		1		1	KIAA0556	HGNC	HGNC:29068	protein_coding	YES	CCDS32415.1	ENSP00000261588	O60303		UPI000045693C	NM_015202.2	tolerated(0.16)		26/28		hmmpanther:PTHR21534:SF0,hmmpanther:PTHR21534																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	27777745	27777745	C	T	1	0	0	0	0	1	0	0	0	8088	594	21	3		3	KIAA0556	16	27777745	Missense_Mutation	SNP	C	C3N-02423_TP	8906883	27777745	62560600	350	31269											
CD2BP2	0	.	GRCh38	chr16	30353452	30353452	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagggagggtgggggtgtggGattgtggggtcctagggtct	4	10	23	4	0	1	0	0	0	1	0	2	2	2	2	1	8	0	0	1	8	1	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.724C>G	p.Pro242Ala	p.P242A	ENST00000305596	5/7	313	295	18	306	306	0	strelka-varscan-mutect	CD2BP2,missense_variant,p.Pro242Ala,ENST00000305596,NM_006110.2;CD2BP2,missense_variant,p.Pro242Ala,ENST00000569466,NM_001243646.1;TBC1D10B,downstream_gene_variant,,ENST00000409939,NM_015527.3;TBC1D10B,downstream_gene_variant,,ENST00000490703,;RP11-347C12.10,upstream_gene_variant,,ENST00000563252,;TBC1D10B,downstream_gene_variant,,ENST00000478158,;TBC1D10B,downstream_gene_variant,,ENST00000475650,;CD2BP2,downstream_gene_variant,,ENST00000564525,;	C	ENST00000305596	Transcript	missense_variant	900/3421	724/1026	242/341	P/A	Ccc/Gcc		1		-1	CD2BP2	HGNC	HGNC:1656	protein_coding	YES	CCDS10675.1	ENSP00000304903	O95400	A0A024QZC1	UPI000006D625	NM_006110.2	tolerated(0.67)		5/7		hmmpanther:PTHR13138,hmmpanther:PTHR13138:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	30353452	30353452	G	C	1	0	0	0	0	1	0	0	0	2699	1174	41	4		4	CD2BP2	16	30353452	Missense_Mutation	SNP	G	C3N-02423_TP	2575707	30353452	59984893	351	31270											
SETD1A	0	.	GRCh38	chr16	30961350	30961350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgtgcgggagaccttcctGaaggatatgtgccgtaagta	11	9	13	8	3	0	2	0	1	0	1	1	4	1	3	3	2	3	2	3	2	5	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.330G>A	p.=	p.L110L	ENST00000262519	4/19	399	377	22	370	370	0	strelka-varscan-mutect	SETD1A,synonymous_variant,p.=,ENST00000262519,NM_014712.2;SETD1A,synonymous_variant,p.=,ENST00000452917,;ORAI3,downstream_gene_variant,,ENST00000562699,;RP11-1072A3.4,upstream_gene_variant,,ENST00000614997,;AC135048.13,downstream_gene_variant,,ENST00000562642,;	A	ENST00000262519	Transcript	synonymous_variant	1016/6903	330/5124	110/1707	L	ctG/ctA		1		1	SETD1A	HGNC	HGNC:29010	protein_coding	YES	CCDS32435.1	ENSP00000262519	O15047		UPI00001C1FA9	NM_014712.2			4/19		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,SMART_domains:SM00360,Superfamily_domains:SSF54928																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	30961350	30961350	G	A	1	0	0	0	0	0	0	0	1	14407	1277	45	3		3	SETD1A	16	30961350	Silent	SNP	G	C3N-02423_TP	607898	30961350	59376995	352	31271											
ITGAX	0	.	GRCh38	chr16	31362961	31362961	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctacttcggggcctccctCtgctccgtggacgtagacag	5	10	11	15	3	1	1	0	0	1	1	5	2	4	2	4	3	2	2	4	3	2	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1386C>G	p.=	p.L462L	ENST00000562522	13/31	159	149	10	198	198	0	strelka-varscan-mutect	ITGAX,synonymous_variant,p.=,ENST00000268296,NM_000887.4;ITGAX,synonymous_variant,p.=,ENST00000562522,NM_001286375.1;ITGAX,downstream_gene_variant,,ENST00000562918,;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;RP11-120K18.3,upstream_gene_variant,,ENST00000561830,;	G	ENST00000562522	Transcript	synonymous_variant	1419/3990	1386/3510	462/1169	L	ctC/ctG		1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1			13/31		Gene3D:3nigC00,Pfam_domain:PF01839,Prints_domain:PR01185,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,SMART_domains:SM00191,Superfamily_domains:SSF69318																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	99	31362961	31362961	C	G	1	0	0	0	0	0	0	0	1	7796	900	32	4		4	ITGAX	16	31362961	Silent	SNP	C	C3N-02423_TP	401611	31362961	58975384	353	31272											
ITGAX	0	.	GRCh38	chr16	31379994	31379994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcccccagaacccatcccttCggtgctcctcagagaaaatc	10	8	6	17	1	1	2	1	0	0	2	6	3	4	2	5	1	2	1	5	1	3	1	rs143932593		C3N-02423_TP	C3N-02423_NB	C	C																c.2989C>G	p.Arg997Gly	p.R997G	ENST00000562522	26/31	274	243	31	238	238	0	strelka-varscan-mutect	ITGAX,missense_variant,p.Arg997Gly,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Arg997Gly,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;	G	ENST00000562522	Transcript	missense_variant	3022/3990	2989/3510	997/1169	R/G	Cgg/Ggg	rs143932593	1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	tolerated(0.28)		26/31		hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,Superfamily_domains:SSF69179																	MODERATE	1	SNV	1			1										PASS		rs143932593	.												G	3	3	99	31379994	31379994	C	G	1	0	0	0	0	1	0	0	0	7796	875	31	4		4	ITGAX	16	31379994	Missense_Mutation	SNP	C	C3N-02423_TP	17033	31379994	58958351	354	31273											
C16orf58	0	.	GRCh38	chr16	31493619	31493619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtccacagcggctcCatgcgattggctgcagttgg	6	10	12	13	2	1	0	1	0	0	0	3	1	3	0	3	3	3	4	3	3	0	2	rs759045764		C3N-02423_TP	C3N-02423_NB	C	C																c.942G>T	p.Met314Ile	p.M314I	ENST00000327237	8/13	415	390	25	366	366	0	strelka-varscan-mutect	C16orf58,missense_variant,p.Met314Ile,ENST00000327237,NM_022744.3;C16orf58,missense_variant,p.Met312Ile,ENST00000570164,;C16orf58,missense_variant,p.Met314Ile,ENST00000430477,;C16orf58,missense_variant,p.Met269Ile,ENST00000567994,;SLC5A2,downstream_gene_variant,,ENST00000330498,NM_003041.3;C16orf58,downstream_gene_variant,,ENST00000564807,;SLC5A2,downstream_gene_variant,,ENST00000564197,;SLC5A2,downstream_gene_variant,,ENST00000567051,;C16orf58,non_coding_transcript_exon_variant,,ENST00000568491,;C16orf58,non_coding_transcript_exon_variant,,ENST00000541442,;C16orf58,non_coding_transcript_exon_variant,,ENST00000567673,;SLC5A2,downstream_gene_variant,,ENST00000568188,;SLC5A2,downstream_gene_variant,,ENST00000419665,;SLC5A2,downstream_gene_variant,,ENST00000568891,;C16orf58,downstream_gene_variant,,ENST00000567578,;C16orf58,downstream_gene_variant,,ENST00000565128,;	A	ENST00000327237	Transcript	missense_variant	982/2793	942/1407	314/468	M/I	atG/atT	rs759045764	1		-1	C16orf58	HGNC	HGNC:25848	protein_coding	YES	CCDS10715.1	ENSP00000317579	Q96GQ5	A0A024QZE6	UPI0000141B4B	NM_022744.3	tolerated(0.1)		8/13		hmmpanther:PTHR12770,hmmpanther:PTHR12770:SF22																	MODERATE	1	SNV	1			1										PASS		rs759045764	.												A	3	1	99	31493619	31493619	C	A	1	0	0	0	0	1	0	0	0	1859	594	21	2		2	C16orf58	16	31493619	Missense_Mutation	SNP	C	C3N-02423_TP	113625	31493619	58844726	355	31274											
NETO2	0	.	GRCh38	chr16	47083709	47083709	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttgtactaaaatagaaaTaatgagaaggaccaagacaa	21	7	7	6	0	0	3	0	1	0	3	0	5	0	4	1	1	1	1	1	1	9	5	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.1090A>T	p.Ile364Phe	p.I364F	ENST00000562435	9/9	259	224	35	226	226	0	strelka-varscan-mutect	NETO2,missense_variant,p.Ile364Phe,ENST00000562435,NM_018092.4;NETO2,missense_variant,p.Ile357Phe,ENST00000303155,NM_001201477.1;NETO2,missense_variant,p.Ile204Phe,ENST00000562559,;NETO2,missense_variant,p.Ile67Phe,ENST00000564667,;NETO2,missense_variant,p.Ile163Phe,ENST00000563078,;	A	ENST00000562435	Transcript	missense_variant	1475/7481	1090/1578	364/525	I/F	Att/Ttt		1		-1	NETO2	HGNC	HGNC:14644	protein_coding	YES	CCDS10727.1	ENSP00000455169	Q8NC67		UPI000003C718	NM_018092.4	deleterious(0.04)		9/9		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10127:SF314,hmmpanther:PTHR10127																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	47083709	47083709	T	A	1	0	0	0	0	1	0	0	0	10375	1406	49	4		4	NETO2	16	47083709	Missense_Mutation	SNP	T	C3N-02423_TP	15590090	47083709	43254636	356	31275											
ABCC11	0	.	GRCh38	chr16	48198231	48198231	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagttccattttcacagatTttcccattttccaacaaaat	12	16	3	10	0	1	2	1	1	0	1	4	2	4	2	3	0	1	1	3	0	3	7	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.2127A>G	p.=	p.K709K	ENST00000394747	15/29	321	303	18	305	305	0	strelka-varscan-mutect	ABCC11,synonymous_variant,p.=,ENST00000394747,NM_033151.3;ABCC11,synonymous_variant,p.=,ENST00000356608,;ABCC11,synonymous_variant,p.=,ENST00000394748,NM_032583.3;ABCC11,synonymous_variant,p.=,ENST00000353782,NM_145186.2;ABCC11,non_coding_transcript_exon_variant,,ENST00000569172,;	C	ENST00000394747	Transcript	synonymous_variant	2477/4862	2127/4149	709/1382	K	aaA/aaG		1		-1	ABCC11	HGNC	HGNC:14639	protein_coding	YES	CCDS10732.1	ENSP00000378230	Q96J66	A0A024R6Q6	UPI0000052711	NM_033151.3			15/29		PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF168,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	99	48198231	48198231	T	C	1	0	0	0	0	0	0	0	1	55	1838	64	5		5	ABCC11	16	48198231	Silent	SNP	T	C3N-02423_TP	1114522	48198231	42140114	357	31276											
IRX5	0	.	GRCh38	chr16	54933310	54933310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actaccccgccggagcgccgGcgcccggcccgcatccagcc	5	2	12	22	7	0	0	0	0	0	0	1	1	1	1	8	3	3	1	8	3	1	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.889G>T	p.Ala297Ser	p.A297S	ENST00000394636	3/3	110	95	15	85	85	0	strelka-varscan-mutect	IRX5,missense_variant,p.Ala297Ser,ENST00000394636,NM_005853.5;IRX5,missense_variant,p.Ala296Ser,ENST00000320990,NM_001252197.1;IRX5,intron_variant,,ENST00000620085,;IRX5,intron_variant,,ENST00000560154,;CRNDE,upstream_gene_variant,,ENST00000560208,;CRNDE,upstream_gene_variant,,ENST00000559598,;CRNDE,upstream_gene_variant,,ENST00000502066,;CRNDE,upstream_gene_variant,,ENST00000501177,;CRNDE,upstream_gene_variant,,ENST00000558952,;CRNDE,upstream_gene_variant,,ENST00000559432,;CTD-3032H12.1,downstream_gene_variant,,ENST00000559802,;CTD-3032H12.1,downstream_gene_variant,,ENST00000558156,;CRNDE,upstream_gene_variant,,ENST00000557792,;CRNDE,upstream_gene_variant,,ENST00000560912,;CTD-3032H12.2,upstream_gene_variant,,ENST00000560487,;IRX5,non_coding_transcript_exon_variant,,ENST00000558597,;	T	ENST00000394636	Transcript	missense_variant	1226/2401	889/1452	297/483	A/S	Gcg/Tcg		1		1	IRX5	HGNC	HGNC:14361	protein_coding	YES	CCDS10751.1	ENSP00000378132	P78411		UPI00001FF1CD	NM_005853.5	tolerated(0.59)		3/3		hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF17,Low_complexity_(Seg):seg																	MODERATE	1	SNV	3			1										PASS		.	.												T	3	4	99	54933310	54933310	G	T	1	0	0	0	0	1	0	0	0	7755	1203	42	2		2	IRX5	16	54933310	Missense_Mutation	SNP	G	C3N-02423_TP	6735079	54933310	35405035	358	31277											
GNAO1	0	.	GRCh38	chr16	56340899	56340899	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaatggttcacagacacGtccatcatcctgtttcttaa	13	12	5	11	1	3	1	2	0	1	1	5	1	5	1	2	1	1	2	2	1	3	3	rs773592961		C3N-02423_TP	C3N-02423_NB	G	G																c.789G>T	p.=	p.T263T	ENST00000262494	7/8	205	187	18	224	224	0	strelka-varscan-mutect	GNAO1,synonymous_variant,p.=,ENST00000262494,NM_138736.2;GNAO1,intron_variant,,ENST00000262493,NM_020988.2;GNAO1,intron_variant,,ENST00000568375,;GNAO1,non_coding_transcript_exon_variant,,ENST00000564798,;	T	ENST00000262494	Transcript	synonymous_variant	1049/5574	789/1065	263/354	T	acG/acT	rs773592961	1		1	GNAO1	HGNC	HGNC:4389	protein_coding	YES	CCDS10757.1	ENSP00000262494	P09471		UPI000007349C	NM_138736.2			7/8		Gene3D:3.40.50.300,Pfam_domain:PF00503,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF203,SMART_domains:SM00275,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs773592961	.												T	2	4	99	56340899	56340899	G	T	1	0	0	0	0	0	0	0	1	6388	1132	40	1		1	GNAO1	16	56340899	Silent	SNP	G	C3N-02423_TP	1407589	56340899	33997446	359	31278											
SLC12A3	0	.	GRCh38	chr16	56904457	56904457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcccgagacgctgctctcatCgtcatgtaagtagtgcccgg	7	10	11	13	4	2	1	2	0	1	1	5	2	3	1	2	1	2	4	2	1	2	2	rs779473697		C3N-02423_TP	C3N-02423_NB	C	C																c.2946C>G	p.Ile982Met	p.I982M	ENST00000438926	25/26	414	358	56	423	423	0	strelka-varscan-mutect	SLC12A3,missense_variant,p.Ile982Met,ENST00000438926,NM_000339.2;SLC12A3,missense_variant,p.Ile972Met,ENST00000262502,;SLC12A3,missense_variant,p.Ile973Met,ENST00000563236,NM_001126108.1;SLC12A3,missense_variant,p.Ile981Met,ENST00000566786,NM_001126107.1;MIR6863,downstream_gene_variant,,ENST00000636112,;SLC12A3,upstream_gene_variant,,ENST00000563352,;SLC12A3,non_coding_transcript_exon_variant,,ENST00000569002,;RPS24P17,upstream_gene_variant,,ENST00000479895,;	G	ENST00000438926	Transcript	missense_variant	2975/5567	2946/3093	982/1030	I/M	atC/atG	rs779473697	1		1	SLC12A3	HGNC	HGNC:10912	protein_coding	YES	CCDS10770.1	ENSP00000402152	P55017		UPI00001FF243	NM_000339.2	deleterious(0)		25/26		hmmpanther:PTHR11827:SF9,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930,Pfam_domain:PF03522																	MODERATE	1	SNV	1			1										PASS		rs779473697	.												G	3	3	99	56904457	56904457	C	G	1	0	0	0	0	1	0	0	0	14649	898	31	4		4	SLC12A3	16	56904457	Missense_Mutation	SNP	C	C3N-02423_TP	563558	56904457	33433888	360	31279											
NLRC5	0	.	GRCh38	chr16	57028136	57028136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggagcttgccgacaatgGggaggctgcagatgctgggg	8	6	18	9	1	0	1	0	0	0	1	0	4	0	3	2	6	4	4	2	6	1	1	rs748383955		C3N-02423_TP	C3N-02423_NB	G	G																c.2140G>T	p.Gly714Trp	p.G714W	ENST00000262510	7/49	76	68	8	76	76	0	strelka-varscan-mutect	NLRC5,missense_variant,p.Gly714Trp,ENST00000262510,;NLRC5,missense_variant,p.Gly714Trp,ENST00000436936,NM_032206.4;NLRC5,missense_variant,p.Gly714Trp,ENST00000539144,;NLRC5,missense_variant,p.Gly467Trp,ENST00000538805,;NLRC5,missense_variant,p.Gly221Trp,ENST00000538110,;NLRC5,missense_variant,p.Gly69Trp,ENST00000543030,;NLRC5,missense_variant,p.Gly442Trp,ENST00000545081,;NLRC5,missense_variant,p.Gly714Trp,ENST00000539881,;NLRC5,non_coding_transcript_exon_variant,,ENST00000536231,;	T	ENST00000262510	Transcript	missense_variant	2365/6822	2140/5601	714/1866	G/W	Ggg/Tgg	rs748383955	1		1	NLRC5	HGNC	HGNC:29933	protein_coding	YES	CCDS10773.1	ENSP00000262510	Q86WI3		UPI00001AEE94		deleterious(0)		7/49		Gene3D:3.80.10.10,SMART_domains:SM00367,SMART_domains:SM00368,Superfamily_domains:SSF52047																	MODERATE	1	SNV	5			1										PASS		rs748383955	.												T	3	4	99	57028136	57028136	G	T	1	0	0	0	0	1	0	0	0	10507	1232	43	2		2	NLRC5	16	57028136	Missense_Mutation	SNP	G	C3N-02423_TP	123679	57028136	33310209	361	31280											
CNOT1	0	.	GRCh38	chr16	58543737	58543737	+	Missense_Mutation	SNP	G	G	C																															gagctgctattcgcattcgaGattcctccgaatccagggca																								novel		C3N-02423_TP	C3N-02423_NB	G	G																c.4304C>G	p.Ser1435Cys	p.S1435C	ENST00000317147	31/49	167	157	10	189	189	0	strelka-varscan-mutect	CNOT1,missense_variant,p.Ser1435Cys,ENST00000317147,NM_016284.4;CNOT1,missense_variant,p.Ser1430Cys,ENST00000569240,NM_001265612.1;CNOT1,missense_variant,p.Ser1435Cys,ENST00000441024,NM_206999.2;CNOT1,missense_variant,p.Ser142Cys,ENST00000567133,;CNOT1,upstream_gene_variant,,ENST00000568917,;CNOT1,downstream_gene_variant,,ENST00000567285,;SNORA46,downstream_gene_variant,,ENST00000384762,;CNOT1,missense_variant,p.Ser1430Cys,ENST00000567188,;CNOT1,missense_variant,p.Ser23Cys,ENST00000566240,;CNOT1,upstream_gene_variant,,ENST00000563283,;	C	ENST00000317147	Transcript	missense_variant	4637/8471	4304/7131	1435/2376	S/C	tCt/tGt		1		-1	CNOT1	HGNC	HGNC:7877	protein_coding	YES	CCDS10799.1	ENSP00000320949	A5YKK6		UPI00001FF2F6	NM_016284.4	tolerated(0.11)		31/49		hmmpanther:PTHR13162,Pfam_domain:PF12842																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	58543737	58543737	G	C	1	0	0	0	0	1	0	0	0	3396	942	33	4		4	CNOT1	16	58543737	Missense_Mutation	SNP	G	C3N-02423_TP	1515601	58543737	31794608	362	31281	640	2									
CNOT1	0	.	GRCh38	chr16	58543746	58543746	+	Missense_Mutation	SNP	G	G	A																															ttcgcattcgagattcctccGaatccagggcaaaatccttc																								novel		C3N-02423_TP	C3N-02423_NB	G	G																c.4295C>T	p.Ser1432Leu	p.S1432L	ENST00000317147	31/49	192	175	17	208	207	1	strelka-varscan-mutect	CNOT1,missense_variant,p.Ser1432Leu,ENST00000317147,NM_016284.4;CNOT1,missense_variant,p.Ser1427Leu,ENST00000569240,NM_001265612.1;CNOT1,missense_variant,p.Ser1432Leu,ENST00000441024,NM_206999.2;CNOT1,missense_variant,p.Ser139Leu,ENST00000567133,;CNOT1,upstream_gene_variant,,ENST00000568917,;CNOT1,downstream_gene_variant,,ENST00000567285,;SNORA46,downstream_gene_variant,,ENST00000384762,;CNOT1,missense_variant,p.Ser1427Leu,ENST00000567188,;CNOT1,missense_variant,p.Ser20Leu,ENST00000566240,;CNOT1,upstream_gene_variant,,ENST00000563283,;	A	ENST00000317147	Transcript	missense_variant	4628/8471	4295/7131	1432/2376	S/L	tCg/tTg		1		-1	CNOT1	HGNC	HGNC:7877	protein_coding	YES	CCDS10799.1	ENSP00000320949	A5YKK6		UPI00001FF2F6	NM_016284.4	deleterious(0)		31/49		hmmpanther:PTHR13162,Pfam_domain:PF12842																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	58543746	58543746	G	A	1	0	0	0	0	1	0	0	0	3396	1059	37	1		1	CNOT1	16	58543746	Missense_Mutation	SNP	G	C3N-02423_TP	9	58543746	31794599	363	31282	640	2									
CARMIL2	0	.	GRCh38	chr16	67645605	67645605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaaaacctggctacccgggGagggtgctgtgcaaaaccat	11	7	13	10	1	0	1	0	1	0	0	0	2	0	2	3	4	5	3	3	4	5	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.106G>A	p.Glu36Lys	p.E36K	ENST00000334583	2/38	306	284	22	292	292	0	strelka-varscan-mutect	CARMIL2,missense_variant,p.Glu36Lys,ENST00000334583,NM_001013838.1;CARMIL2,missense_variant,p.Glu36Lys,ENST00000545661,NM_001317026.1;CARMIL2,non_coding_transcript_exon_variant,,ENST00000602467,;CARMIL2,intron_variant,,ENST00000602563,;CARMIL2,upstream_gene_variant,,ENST00000602321,;CARMIL2,upstream_gene_variant,,ENST00000602562,;CARMIL2,upstream_gene_variant,,ENST00000602633,;CARMIL2,upstream_gene_variant,,ENST00000602742,;	A	ENST00000334583	Transcript	missense_variant	434/4687	106/4308	36/1435	E/K	Gag/Aag		1		1	CARMIL2	HGNC	HGNC:27089	protein_coding	YES	CCDS45513.1	ENSP00000334958	Q6F5E8		UPI00005194F2	NM_001013838.1	tolerated(0.86)		2/38		hmmpanther:PTHR24112:SF32,hmmpanther:PTHR24112																	MODERATE	1	SNV	1			1										PASS		rs1206066185	.												A	3	1	99	67645605	67645605	G	A	1	0	0	0	0	1	0	0	0	2352	1175	41	3		3	CARMIL2	16	67645605	Missense_Mutation	SNP	G	C3N-02423_TP	9101859	67645605	22692740	364	31283											
FA2H	0	.	GRCh38	chr16	74774603	74774603	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtcctggcccgccctggcCcgcagcagctgctcgccccc	3	6	11	21	3	0	0	0	0	0	0	2	0	1	0	6	2	3	4	6	2	0	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.153G>T	p.=	p.R51R	ENST00000219368	1/7	146	128	18	172	172	0	strelka-varscan-mutect	FA2H,synonymous_variant,p.=,ENST00000219368,NM_024306.4;FA2H,synonymous_variant,p.=,ENST00000567683,;	A	ENST00000219368	Transcript	synonymous_variant	223/2424	153/1119	51/372	R	cgG/cgT		1		-1	FA2H	HGNC	HGNC:21197	protein_coding	YES	CCDS10911.1	ENSP00000219368	Q7L5A8		UPI000013C77C	NM_024306.4			1/7		PROSITE_profiles:PS50255,hmmpanther:PTHR12863,Pfam_domain:PF00173,PIRSF_domain:PIRSF005149,Gene3D:3.10.120.10,SMART_domains:SM01117,Superfamily_domains:SSF55856,Prints_domain:PR00363																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	74774603	74774603	C	A	1	0	0	0	0	0	0	0	1	5221	610	22	2		2	FA2H	16	74774603	Silent	SNP	C	C3N-02423_TP	7128998	74774603	15563742	365	31284											
ZNF469	0	.	GRCh38	chr16	88436012	88436012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctctggctccagtgccaagGatcctccaagcttgtttgat	7	12	9	13	0	1	1	0	1	1	0	4	2	4	2	5	2	2	3	5	2	2	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.8458G>A	p.Asp2820Asn	p.D2820N	ENST00000437464	2/2	539	494	45	610	610	0	strelka-varscan-mutect	ZNF469,missense_variant,p.Asp2848Asn,ENST00000565624,;ZNF469,missense_variant,p.Asp2820Asn,ENST00000437464,NM_001127464.2;	A	ENST00000437464	Transcript	missense_variant	8458/13203	8458/11778	2820/3925	D/N	Gat/Aat		1		1	ZNF469	HGNC	HGNC:23216	protein_coding	YES	CCDS45544.1	ENSP00000402343	Q96JG9		UPI0004E4C937	NM_001127464.2	tolerated(0.05)		2/2		hmmpanther:PTHR21465:SF2,hmmpanther:PTHR21465																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	99	88436012	88436012	G	A	1	0	0	0	0	1	0	0	0	18500	1174	41	3		3	ZNF469	16	88436012	Missense_Mutation	SNP	G	C3N-02423_TP	13661409	88436012	1902333	366	31285											
POLR2A	0	.	GRCh38	chr17	7502020	7502020	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgagagccgtggctttgtgGagaactcctacctagccggc	7	9	13	12	2	0	2	0	1	0	2	1	4	1	2	4	3	4	1	4	3	3	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2470G>C	p.Glu824Gln	p.E824Q	ENST00000617998	15/29	172	143	29	190	190	0	strelka-varscan-mutect	POLR2A,missense_variant,p.Glu824Gln,ENST00000617998,NM_000937.4;POLR2A,downstream_gene_variant,,ENST00000572844,;POLR2A,downstream_gene_variant,,ENST00000575547,;POLR2A,upstream_gene_variant,,ENST00000576718,;POLR2A,downstream_gene_variant,,ENST00000576952,;POLR2A,upstream_gene_variant,,ENST00000574158,;POLR2A,upstream_gene_variant,,ENST00000576114,;	C	ENST00000617998	Transcript	missense_variant	2869/6751	2470/5943	824/1980	E/Q	Gag/Cag		1		1	POLR2A	HGNC	HGNC:9187	protein_coding	YES		ENSP00000480158		A0A087WWE2	UPI0004620E89	NM_000937.4	deleterious(0.01)		15/29		hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF37,Superfamily_domains:SSF64484																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	7502020	7502020	G	C	1	0	0	0	0	1	0	0	0	12324	1175	41	4		4	POLR2A	17	7502020	Missense_Mutation	SNP	G	C3N-02423_TP		7502020	75755421	367	31286											
TP53	0	.	GRCh38	chr17	7673579	7673579	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtttcttctttggctGgggagaggagctggtgttgt	4	15	17	5	0	2	1	0	0	2	1	2	3	2	2	0	6	1	4	0	6	0	4	rs764735889		C3N-02423_TP	C3N-02423_NB	G	G																c.949C>T	p.Gln317Ter	p.Q317*	ENST00000269305	9/11	273	223	50	333	332	1	strelka-varscan-mutect	TP53,stop_gained,p.Gln317Ter,ENST00000617185,NM_001126114.2;TP53,stop_gained,p.Gln317Ter,ENST00000420246,;TP53,stop_gained,p.Gln278Ter,ENST00000622645,NM_001276696.1;TP53,stop_gained,p.Gln278Ter,ENST00000610292,NM_001126118.1;TP53,stop_gained,p.Gln317Ter,ENST00000455263,NM_001126113.2;TP53,stop_gained,p.Gln278Ter,ENST00000610538,NM_001276695.1;TP53,stop_gained,p.Gln317Ter,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,stop_gained,p.Gln278Ter,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,stop_gained,p.Gln317Ter,ENST00000445888,;TP53,stop_gained,p.Gln278Ter,ENST00000619485,;TP53,stop_gained,p.Gln185Ter,ENST00000510385,NM_001126116.1;TP53,stop_gained,p.Gln158Ter,ENST00000618944,NM_001276698.1;TP53,stop_gained,p.Gln185Ter,ENST00000504290,NM_001126117.1;TP53,stop_gained,p.Gln158Ter,ENST00000610623,NM_001276699.1;TP53,stop_gained,p.Gln185Ter,ENST00000504937,NM_001126115.1;TP53,stop_gained,p.Gln158Ter,ENST00000619186,NM_001276697.1;TP53,stop_gained,p.Gln317Ter,ENST00000359597,;TP53,stop_gained,p.Gln306Ter,ENST00000615910,;TP53,stop_gained,p.Gln185Ter,ENST00000509690,;TP53,stop_gained,p.Gln4Ter,ENST00000576024,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,stop_gained,p.Gln278Ter,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	stop_gained	1139/2579	949/1182	317/393	Q/*	Cag/Tag	rs764735889,TP53_g.14021del,TP53_g.14021C>T,TP53_g.14021C>A,COSM10786,COSM1630410,COSM165085,COSM1709728,COSM1735382,COSM3388166,COSM43573,COSM43769	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5			9/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6											0,0,0,0,1,1,1,1,1,1,1,1						HIGH	1	SNV	1		0,0,0,0,1,1,1,1,1,1,1,1	1										PASS		rs764735889	.												A	4	1	99	7673579	7673579	G	A	1	0	0	0	0	0	1	0	0	16859	1357	47	3		3	TP53	17	7673579	Nonsense_Mutation	SNP	G	C3N-02423_TP	171559	7673579	75583862	368	31287											
MYH2	0	.	GRCh38	chr17	10543111	10543111	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttacatgtttcaatatcAgcagatgccagttttccagt	11	14	6	10	0	2	1	2	0	0	1	3	1	3	1	2	0	3	3	2	0	3	5	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.792T>A	p.=	p.A264A	ENST00000245503	9/40	192	170	22	261	261	0	strelka-varscan-mutect	MYH2,synonymous_variant,p.=,ENST00000245503,NM_017534.5;MYH2,synonymous_variant,p.=,ENST00000397183,NM_001100112.1;MYH2,synonymous_variant,p.=,ENST00000532183,;MYH2,synonymous_variant,p.=,ENST00000622564,;MYH2,downstream_gene_variant,,ENST00000420805,;MYH2,downstream_gene_variant,,ENST00000578017,;MYHAS,intron_variant,,ENST00000587182,;	T	ENST00000245503	Transcript	synonymous_variant	1177/6339	792/5826	264/1941	A	gcT/gcA		1		-1	MYH2	HGNC	HGNC:7572	protein_coding	YES	CCDS11156.1	ENSP00000245503	Q9UKX2		UPI000012FB6C	NM_017534.5			9/40		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF385,SMART_domains:SM00242,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	10543111	10543111	A	T	1	0	0	0	0	0	0	0	1	10035	175	7	4		4	MYH2	17	10543111	Silent	SNP	A	C3N-02423_TP	2869532	10543111	72714330	369	31288											
MYH3	0	.	GRCh38	chr17	10642551	10642551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agacactgtagtccacggtgCccgcatagtggatcagtgag	10	8	13	10	2	1	2	1	1	0	1	2	3	2	3	2	2	1	2	2	2	2	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1754G>T	p.Gly585Val	p.G585V	ENST00000583535	16/41	337	278	59	458	458	0	strelka-varscan-mutect	MYH3,missense_variant,p.Gly585Val,ENST00000583535,NM_002470.3;	A	ENST00000583535	Transcript	missense_variant	1842/6037	1754/5823	585/1940	G/V	gGc/gTc		1		-1	MYH3	HGNC	HGNC:7573	protein_coding	YES	CCDS11157.1	ENSP00000464317	P11055		UPI000013C892	NM_002470.3	deleterious(0)		16/41		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF427,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	99	10642551	10642551	C	A	1	0	0	0	0	1	0	0	0	10036	739	26	2		2	MYH3	17	10642551	Missense_Mutation	SNP	C	C3N-02423_TP	99440	10642551	72614890	370	31289											
FBXW10	0	.	GRCh38	chr17	18775194	18775194	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatcaccccgaagagatggTaagaagagagtttattctgt	15	10	10	6	1	2	3	1	0	1	3	2	6	2	3	2	1	0	2	2	1	5	4	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.2335+2T>A		p.X779_splice	ENST00000395665		219	199	20	164	164	0	strelka-varscan-mutect	FBXW10,splice_donor_variant,,ENST00000395665,NM_001267585.1;FBXW10,splice_donor_variant,,ENST00000301938,NM_001267586.1;FBXW10,intron_variant,,ENST00000308799,;FBXW10,downstream_gene_variant,,ENST00000573605,;FBXW10,splice_donor_variant,,ENST00000574478,;	A	ENST00000395665	Transcript	splice_donor_variant	-/3431	2335/3159	779/1052				1		1	FBXW10	HGNC	HGNC:1211	protein_coding	YES	CCDS11199.3	ENSP00000379025	Q5XX13		UPI0000200B30	NM_001267585.1				13/13																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	99	18775194	18775194	T	A	1	0	0	0	0	0	0	1	0	5626	1652	57	4		4	FBXW10	17	18775194	Splice_Site	SNP	T	C3N-02423_TP	8132643	18775194	64482247	371	31290											
LGALS9	0	.	GRCh38	chr17	27647054	27647054	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctttcatcaccaccattCtgggagggctgtacccatcc	7	11	8	15	0	3	0	2	0	1	0	4	1	4	1	5	2	2	2	5	2	1	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.694C>T	p.=	p.L232L	ENST00000395473	9/11	328	304	24	366	365	1	strelka-varscan-mutect	LGALS9,synonymous_variant,p.=,ENST00000395473,NM_009587.2;LGALS9,synonymous_variant,p.=,ENST00000302228,NM_002308.3;LGALS9,synonymous_variant,p.=,ENST00000313648,;LGALS9,synonymous_variant,p.=,ENST00000581710,;LGALS9,synonymous_variant,p.=,ENST00000577392,;LGALS9,synonymous_variant,p.=,ENST00000578944,;LGALS9,downstream_gene_variant,,ENST00000584661,;LGALS9,3_prime_UTR_variant,,ENST00000467111,;LGALS9,3_prime_UTR_variant,,ENST00000580779,;LGALS9,non_coding_transcript_exon_variant,,ENST00000486774,;LGALS9,non_coding_transcript_exon_variant,,ENST00000481514,;LGALS9,non_coding_transcript_exon_variant,,ENST00000584386,;LGALS9,downstream_gene_variant,,ENST00000579930,;LGALS9,downstream_gene_variant,,ENST00000583671,;NOS2P1,downstream_gene_variant,,ENST00000580780,;	T	ENST00000395473	Transcript	synonymous_variant	2162/3114	694/1068	232/355	L	Ctg/Ttg		1		1	LGALS9	HGNC	HGNC:6570	protein_coding	YES	CCDS11222.1	ENSP00000378856	O00182	A0A024QZ55	UPI000012E437	NM_009587.2			9/11		Gene3D:2.60.120.200,Pfam_domain:PF00337,PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF91,SMART_domains:SM00276,SMART_domains:SM00908,Superfamily_domains:SSF49899																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	27647054	27647054	C	T	1	0	0	0	0	0	0	0	1	8657	912	32	3		3	LGALS9	17	27647054	Silent	SNP	C	C3N-02423_TP	8871860	27647054	55610387	372	31291											
LIG3	0	.	GRCh38	chr17	34999856	34999856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcgtcccagacccaaaGgtatcaacccagtggcttgg	10	9	9	13	1	2	1	2	0	0	1	4	1	3	1	3	3	1	2	3	3	3	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.2331G>T	p.Lys777Asn	p.K777N	ENST00000378526	16/20	164	136	28	167	167	0	strelka-varscan-mutect	LIG3,missense_variant,p.Lys777Asn,ENST00000378526,NM_013975.3;LIG3,missense_variant,p.Lys777Asn,ENST00000262327,NM_002311.4;LIG3,splice_region_variant,,ENST00000593099,;LIG3,splice_region_variant,,ENST00000586119,;LIG3,downstream_gene_variant,,ENST00000590630,;LIG3,downstream_gene_variant,,ENST00000586058,;LIG3,downstream_gene_variant,,ENST00000588713,;LIG3,upstream_gene_variant,,ENST00000592244,;LIG3,downstream_gene_variant,,ENST00000585370,;	T	ENST00000378526	Transcript	missense_variant,splice_region_variant	2464/8400	2331/3030	777/1009	K/N	aaG/aaT		1		1	LIG3	HGNC	HGNC:6600	protein_coding	YES	CCDS11284.2	ENSP00000367787	P49916		UPI0000350B71	NM_013975.3	tolerated(0.07)		16/20		Gene3D:2.40.50.140,Pfam_domain:PF04679,hmmpanther:PTHR10459,hmmpanther:PTHR10459:SF11,Superfamily_domains:SSF50249,TIGRFAM_domain:TIGR00574																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	34999856	34999856	G	T	1	0	0	0	0	1	0	0	0	8691	1014	35	2		2	LIG3	17	34999856	Missense_Mutation	SNP	G	C3N-02423_TP	7352802	34999856	48257585	373	31292											
C17orf50	0	.	GRCh38	chr17	35764166	35764166	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccgccgcgggtagcggAggagggcgaaggccgcgagc	7	1	22	11	7	0	0	0	0	0	0	0	5	0	3	3	6	3	1	3	6	2	1	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.173A>C	p.Glu58Ala	p.E58A	ENST00000605587	2/3	437	414	23	367	366	1	strelka-varscan-mutect	C17orf50,missense_variant,p.Glu58Ala,ENST00000605587,NM_145272.3;C17orf50,missense_variant,p.Glu58Ala,ENST00000604830,;C17orf50,synonymous_variant,p.=,ENST00000603305,;MMP28,intron_variant,,ENST00000615317,;MMP28,downstream_gene_variant,,ENST00000615136,NM_032950.3;MMP28,downstream_gene_variant,,ENST00000605424,NM_024302.4;MMP28,downstream_gene_variant,,ENST00000612292,;MMP28,intron_variant,,ENST00000619655,;TAF15,intron_variant,,ENST00000603067,;	C	ENST00000605587	Transcript	missense_variant	205/1018	173/525	58/174	E/A	gAg/gCg		1		1	C17orf50	HGNC	HGNC:29581	protein_coding	YES	CCDS42298.1	ENSP00000475146	Q8WW18		UPI00002016EC	NM_145272.3	tolerated(0.26)		2/3		Low_complexity_(Seg):seg,hmmpanther:PTHR37878:SF1,hmmpanther:PTHR37878,Pfam_domain:PF15470																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	35764166	35764166	A	C	1	0	0	0	0	1	0	0	0	1881	304	11	5		5	C17orf50	17	35764166	Missense_Mutation	SNP	A	C3N-02423_TP	764310	35764166	47493275	374	31293											
CWC25	0	.	GRCh38	chr17	38806876	38806876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catgtcttgggggtgagtggGaggagcttctggatctggaa	7	11	18	5	0	3	1	0	1	3	0	3	5	3	5	0	6	1	1	0	6	1	2	rs777251017		C3N-02423_TP	C3N-02423_NB	G	G																c.791C>G	p.Ser264Cys	p.S264C	ENST00000614790	7/10	189	175	14	151	150	1	strelka-varscan-mutect	CWC25,missense_variant,p.Ser264Cys,ENST00000614790,NM_017748.4;CWC25,non_coding_transcript_exon_variant,,ENST00000619818,;CWC25,3_prime_UTR_variant,,ENST00000619299,;CWC25,3_prime_UTR_variant,,ENST00000618122,;CWC25,3_prime_UTR_variant,,ENST00000619462,;CWC25,non_coding_transcript_exon_variant,,ENST00000611845,;CWC25,downstream_gene_variant,,ENST00000622665,;	C	ENST00000614790	Transcript	missense_variant	1089/3234	791/1278	264/425	S/C	tCc/tGc	rs777251017	1		-1	CWC25	HGNC	HGNC:25989	protein_coding	YES	CCDS45663.1	ENSP00000478070	Q9NXE8		UPI000007081D	NM_017748.4	tolerated(0.06)		7/10		Low_complexity_(Seg):seg,hmmpanther:PTHR16196																	MODERATE	1	SNV	1			1										PASS		rs777251017	.												C	3	2	99	38806876	38806876	G	C	1	0	0	0	0	1	0	0	0	3879	1174	41	4		4	CWC25	17	38806876	Missense_Mutation	SNP	G	C3N-02423_TP	3042710	38806876	44450565	375	31294											
MED1	0	.	GRCh38	chr17	39415300	39415300	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacgctgaaacgagactctGagagaggacacacttcaaat	16	7	9	9	2	2	4	1	2	1	2	2	7	2	5	0	1	2	1	0	1	3	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1337C>G	p.Ser446Ter	p.S446*	ENST00000300651	15/17	304	283	21	309	309	0	strelka-varscan-mutect	MED1,stop_gained,p.Ser446Ter,ENST00000300651,NM_004774.3;MED1,stop_gained,p.Ser446Ter,ENST00000394287,;MED1,3_prime_UTR_variant,,ENST00000577831,;	C	ENST00000300651	Transcript	stop_gained	1561/5844	1337/4746	446/1581	S/*	tCa/tGa		1		-1	MED1	HGNC	HGNC:9234	protein_coding	YES	CCDS11336.1	ENSP00000300651	Q15648		UPI0000167F57	NM_004774.3			15/17		hmmpanther:PTHR12881																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	99	39415300	39415300	G	C	1	0	0	0	0	0	1	0	0	9364	1294	45	4		4	MED1	17	39415300	Nonsense_Mutation	SNP	G	C3N-02423_TP	608424	39415300	43842141	376	31295											
KRTAP4-7	0	.	GRCh38	chr17	41084449	41084449	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccaccctaggtgctgcatCtccagctgctgccgccccag	5	8	10	18	1	1	0	0	0	1	0	2	0	1	0	6	1	6	4	6	1	1	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.243C>G	p.Ile81Met	p.I81M	ENST00000391417	1/1	392	368	24	436	436	0	varscan-mutect	KRTAP4-7,missense_variant,p.Ile81Met,ENST00000391417,NM_033061.3;KRTAP4-7,missense_variant,p.Ile81Met,ENST00000612231,;KRTAP4-7,missense_variant,p.Ile81Met,ENST00000621138,;	G	ENST00000391417	Transcript	missense_variant	300/992	243/468	81/155	I/M	atC/atG		1		1	KRTAP4-7	HGNC	HGNC:18898	protein_coding	YES	CCDS45673.1	ENSP00000375236	Q9BYR0		UPI00001B0238	NM_033061.3	tolerated(0.08)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF60,Pfam_domain:PF13885																	MODERATE	1	SNV				1										PASS		rs1315835532	.												G	3	3	99	41084449	41084449	C	G	1	0	0	0	0	1	0	0	0	8450	903	32	4		4	KRTAP4-7	17	41084449	Missense_Mutation	SNP	C	C3N-02423_TP	1669149	41084449	42172992	377	31296											
STAT3	0	.	GRCh38	chr17	42329771	42329771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagagctgcaacgtccccaGagtctctgtaagaacacaga	13	7	10	11	1	1	4	0	1	1	4	3	5	2	4	2	0	4	3	2	0	3	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1115C>T	p.Ser372Phe	p.S372F	ENST00000264657	12/24	588	553	35	514	514	0	strelka-varscan-mutect	STAT3,missense_variant,p.Ser372Phe,ENST00000264657,NM_139276.2;STAT3,missense_variant,p.Ser372Phe,ENST00000585517,NM_213662.1;STAT3,missense_variant,p.Ser372Phe,ENST00000588969,;STAT3,missense_variant,p.Ser372Phe,ENST00000404395,NM_003150.3;STAT3,missense_variant,p.Ser274Phe,ENST00000389272,;STAT3,non_coding_transcript_exon_variant,,ENST00000478276,;STAT3,upstream_gene_variant,,ENST00000471989,;STAT3,upstream_gene_variant,,ENST00000498330,;	A	ENST00000264657	Transcript	missense_variant	1428/5047	1115/2313	372/770	S/F	tCt/tTt		1		-1	STAT3	HGNC	HGNC:11364	protein_coding	YES	CCDS32656.1	ENSP00000264657	P40763		UPI0000031047	NM_139276.2	tolerated(0.1)		12/24		hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF2,Pfam_domain:PF02864,Gene3D:2.60.40.630,Superfamily_domains:SSF49417																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	42329771	42329771	G	A	1	0	0	0	0	1	0	0	0	15642	956	33	3		3	STAT3	17	42329771	Missense_Mutation	SNP	G	C3N-02423_TP	1245322	42329771	40927670	378	31297											
PTGES3L	0	.	GRCh38	chr17	42980139	42980139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgcccccagcagctgcctCtccttatatggtcgggagag	7	8	12	14	2	1	1	0	0	1	1	3	3	1	1	4	2	3	2	4	2	2	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.44G>C	p.Arg15Thr	p.R15T	ENST00000421990	1/17	178	168	10	129	129	0	strelka-varscan-mutect	PTGES3L-AARSD1,missense_variant,p.Arg15Thr,ENST00000421990,NM_001136042.2;PTGES3L-AARSD1,missense_variant,p.Arg15Thr,ENST00000409399,;PTGES3L,missense_variant,p.Arg15Thr,ENST00000409446,NM_001142654.1;RUNDC1,upstream_gene_variant,,ENST00000361677,NM_001321381.1,NM_173079.2;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000360221,NM_025267.3;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000409103,;PTGES3L,upstream_gene_variant,,ENST00000424284,;RUNDC1,upstream_gene_variant,,ENST00000589705,;PTGES3L,upstream_gene_variant,,ENST00000591916,NM_001261430.1;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000454303,;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000452752,;PTGES3L,upstream_gene_variant,,ENST00000451885,NM_001142653.1;PTGES3L,non_coding_transcript_exon_variant,,ENST00000462157,;RUNDC1,upstream_gene_variant,,ENST00000590836,;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000423601,;	G	ENST00000421990	Transcript	missense_variant	390/2150	44/1761	15/586	R/T	aGa/aCa		1		-1	PTGES3L-AARSD1	HGNC	HGNC:43946	protein_coding	YES	CCDS45691.1	ENSP00000409924	Q9BTE6		UPI0000D4E5DF	NM_001136042.2	deleterious_low_confidence(0.03)		1/17																			MODERATE		SNV	2			1										PASS		.	.												G	3	3	99	42980139	42980139	C	G	1	0	0	0	0	1	0	0	0	12904	913	32	4		4	PTGES3L	17	42980139	Missense_Mutation	SNP	C	C3N-02423_TP	650368	42980139	40277302	379	31298											
RUNDC1	0	.	GRCh38	chr17	42981024	42981024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggcgaccccgccagcgatGagggcgatgggctgccaggg	6	3	18	14	5	0	1	0	1	0	0	0	4	0	1	5	4	2	1	5	4	0	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.448G>A	p.Glu150Lys	p.E150K	ENST00000361677	1/5	180	168	12	170	170	0	strelka-varscan-mutect	RUNDC1,missense_variant,p.Glu150Lys,ENST00000361677,NM_001321381.1,NM_173079.2;RUNDC1,missense_variant,p.Glu149Lys,ENST00000589705,;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000421990,NM_001136042.2;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000409399,;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000360221,NM_025267.3;PTGES3L,upstream_gene_variant,,ENST00000409446,NM_001142654.1;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000409103,;PTGES3L,upstream_gene_variant,,ENST00000424284,;PTGES3L,upstream_gene_variant,,ENST00000591916,NM_001261430.1;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000454303,;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000452752,;PTGES3L,upstream_gene_variant,,ENST00000451885,NM_001142653.1;RUNDC1,non_coding_transcript_exon_variant,,ENST00000590836,;PTGES3L,upstream_gene_variant,,ENST00000462157,;PTGES3L-AARSD1,upstream_gene_variant,,ENST00000423601,;	A	ENST00000361677	Transcript	missense_variant	460/3828	448/1842	150/613	E/K	Gag/Aag		1		1	RUNDC1	HGNC	HGNC:25418	protein_coding	YES	CCDS11448.1	ENSP00000354622	Q96C34		UPI00001AED0E	NM_001321381.1,NM_173079.2	tolerated(0.68)		1/5		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	42981024	42981024	G	A	1	0	0	0	0	1	0	0	0	14004	1291	45	3		3	RUNDC1	17	42981024	Missense_Mutation	SNP	G	C3N-02423_TP	885	42981024	40276417	380	31299											
RUNDC3A	0	.	GRCh38	chr17	44313126	44313126	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgccccagcaggtccagtGagctggttcagctcagacgg	7	8	14	12	1	2	2	2	1	0	1	3	2	3	2	3	3	4	4	3	3	0	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.246G>A	p.=	p.V82V	ENST00000426726	3/11	112	105	7	109	109	0	strelka-varscan-mutect	RUNDC3A,synonymous_variant,p.=,ENST00000426726,NM_001144825.1;RUNDC3A,synonymous_variant,p.=,ENST00000225441,NM_006695.4;RUNDC3A,synonymous_variant,p.=,ENST00000590941,NM_001144826.1;RUNDC3A,synonymous_variant,p.=,ENST00000612735,;RUNDC3A-AS1,intron_variant,,ENST00000588097,;RUNDC3A-AS1,upstream_gene_variant,,ENST00000586388,;RUNDC3A,non_coding_transcript_exon_variant,,ENST00000587483,;RUNDC3A,non_coding_transcript_exon_variant,,ENST00000590834,;RUNDC3A,upstream_gene_variant,,ENST00000588564,;RUNDC3A,upstream_gene_variant,,ENST00000593079,;	A	ENST00000426726	Transcript	synonymous_variant	520/2048	246/1341	82/446	V	gtG/gtA		1		1	RUNDC3A	HGNC	HGNC:16984	protein_coding	YES	CCDS45698.1	ENSP00000410862	Q59EK9		UPI0000EE7B82	NM_001144825.1			3/11		Superfamily_domains:0052343,Pfam_domain:PF02759,PROSITE_profiles:PS50826,hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF38																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	44313126	44313126	G	A	1	0	0	0	0	0	0	0	1	14005	1277	45	3		3	RUNDC3A	17	44313126	Silent	SNP	G	C3N-02423_TP	1332102	44313126	38944315	381	31300											
CSHL1	0	.	GRCh38	chr17	63910477	63910477	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatagagtctgagaagcaGaaggaggtctgggagtcatg	13	7	17	4	0	3	3	1	1	2	3	3	7	3	6	0	4	1	1	0	4	4	1	rs61762509		C3N-02423_TP	C3N-02423_NB	G	G																c.249C>T	p.=	p.F83F	ENST00000309894	3/5	446	416	30	429	429	0	varscan-mutect	CSHL1,synonymous_variant,p.=,ENST00000392824,;CSHL1,synonymous_variant,p.=,ENST00000611417,;CSHL1,synonymous_variant,p.=,ENST00000309894,NM_022581.1,NM_022579.1;CSHL1,5_prime_UTR_variant,,ENST00000450719,;CSHL1,5_prime_UTR_variant,,ENST00000346606,NM_001318.2;CSHL1,intron_variant,,ENST00000561003,;CSHL1,intron_variant,,ENST00000259003,NM_001321068.1;CSHL1,intron_variant,,ENST00000438387,NM_022580.1;CSHL1,non_coding_transcript_exon_variant,,ENST00000558099,;CSHL1,non_coding_transcript_exon_variant,,ENST00000560999,;CSHL1,non_coding_transcript_exon_variant,,ENST00000558609,;	A	ENST00000309894	Transcript	synonymous_variant	249/669	249/669	83/222	F	ttC/ttT	rs61762509	1		-1	CSHL1	HGNC	HGNC:2442	protein_coding	YES	CCDS11652.1	ENSP00000309524	Q14406		UPI00001602B9	NM_022581.1,NM_022579.1			3/5		Gene3D:1.20.1250.10,Pfam_domain:PF00103,hmmpanther:PTHR11417,hmmpanther:PTHR11417:SF40,Superfamily_domains:SSF47266																	LOW	1	SNV	5			1										PASS		rs61762509	.												A	2	1	99	63910477	63910477	G	A	1	0	0	0	0	0	0	0	1	3743	933	33	3		3	CSHL1	17	63910477	Silent	SNP	G	C3N-02423_TP	19597351	63910477	19346964	382	31301											
MGAT5B	0	.	GRCh38	chr17	76904351	76904351	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctcagtgaggtcgagtggTtctgccccccgctgccctgg	4	9	13	15	2	2	1	1	1	1	0	3	2	2	1	5	3	2	2	5	3	0	1	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.652T>C	p.Phe218Leu	p.F218L	ENST00000428789	5/16	300	247	53	247	247	0	strelka-varscan-mutect	MGAT5B,missense_variant,p.Phe207Leu,ENST00000569840,NM_001199172.1;MGAT5B,missense_variant,p.Phe207Leu,ENST00000301618,NM_144677.2;MGAT5B,missense_variant,p.Phe218Leu,ENST00000428789,NM_198955.1;MGAT5B,non_coding_transcript_exon_variant,,ENST00000374998,;MGAT5B,missense_variant,p.Phe218Leu,ENST00000565043,;	C	ENST00000428789	Transcript	missense_variant	755/4053	652/2406	218/801	F/L	Ttc/Ctc		1		1	MGAT5B	HGNC	HGNC:24140	protein_coding	YES	CCDS45788.1	ENSP00000391227	Q3V5L5		UPI0000231C88	NM_198955.1	deleterious(0.01)		5/16		Pfam_domain:PF15024,hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	76904351	76904351	T	C	1	0	0	0	0	1	0	0	0	9510	1725	60	5		5	MGAT5B	17	76904351	Missense_Mutation	SNP	T	C3N-02423_TP	12993874	76904351	6353090	383	31302											
SEPT9	0	.	GRCh38	chr17	77307156	77307156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttaggaggcacgcggacctCcagtggccggctccggaggc	6	6	16	13	4	0	0	0	0	0	0	2	3	2	3	4	7	0	2	4	7	1	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.35C>G	p.Ser12Cys	p.S12C	ENST00000427177	2/12	572	533	39	505	505	0	strelka-varscan-mutect	SEPT9,missense_variant,p.Ser12Cys,ENST00000427177,NM_001113491.1;SEPT9,5_prime_UTR_variant,,ENST00000431235,;SEPT9,5_prime_UTR_variant,,ENST00000449803,NM_001113492.1;SEPT9,intron_variant,,ENST00000591198,NM_001293695.1;SEPT9,intron_variant,,ENST00000589070,;SEPT9,non_coding_transcript_exon_variant,,ENST00000587237,;SEPT9,3_prime_UTR_variant,,ENST00000590576,;SEPT9,3_prime_UTR_variant,,ENST00000591833,;	G	ENST00000427177	Transcript	missense_variant	161/3821	35/1761	12/586	S/C	tCc/tGc		1		1	SEPT9	HGNC	HGNC:7323	protein_coding	YES	CCDS45790.1	ENSP00000391249	Q9UHD8		UPI00001AF955	NM_001113491.1	deleterious_low_confidence(0.03)		2/12		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	77307156	77307156	C	G	1	0	0	0	0	1	0	0	0	14347	855	30	4		4	SEPT9	17	77307156	Missense_Mutation	SNP	C	C3N-02423_TP	402805	77307156	5950285	384	31303											
USP36	0	.	GRCh38	chr17	78803955	78803955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggttgcaggcggctggatGattggggagcaggtgacaca	8	7	20	6	1	0	2	0	2	0	0	0	4	0	4	0	8	2	4	0	8	0	2			C3N-02423_TP	C3N-02423_NB	G	G																c.2240C>T	p.Ser747Leu	p.S747L	ENST00000542802	16/21	68	63	5	64	64	0	strelka-varscan-mutect	USP36,missense_variant,p.Ser747Leu,ENST00000542802,NM_001321291.1;USP36,missense_variant,p.Ser747Leu,ENST00000312010,NM_025090.3;USP36,upstream_gene_variant,,ENST00000592231,;USP36,downstream_gene_variant,,ENST00000449938,;USP36,upstream_gene_variant,,ENST00000588130,;USP36,downstream_gene_variant,,ENST00000588467,;USP36,missense_variant,p.Ser747Leu,ENST00000589225,;USP36,missense_variant,p.Ser747Leu,ENST00000588086,;USP36,upstream_gene_variant,,ENST00000587010,;	A	ENST00000542802	Transcript	missense_variant	2684/6063	2240/3372	747/1123	S/L	tCa/tTa	COSM3523102,COSM3523103	1		-1	USP36	HGNC	HGNC:20062	protein_coding	YES	CCDS32755.1	ENSP00000441214	Q9P275	A0A024R8V6	UPI00000398BB	NM_001321291.1	tolerated(0.13)		16/21													1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	99	78803955	78803955	G	A	1	0	0	0	0	1	0	0	0	17609	1294	45	3		3	USP36	17	78803955	Missense_Mutation	SNP	G	C3N-02423_TP	1496799	78803955	4453486	385	31304											
RNF213	0	.	GRCh38	chr17	80339590	80339590	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactgcaccctgagggatgtCttaagggcctctgtggggtg	7	10	15	9	0	2	1	0	1	2	0	2	2	2	2	2	4	2	1	2	4	2	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.5223C>G	p.=	p.V1741V	ENST00000582970	26/68	212	198	14	208	208	0	strelka-varscan-mutect	RNF213,synonymous_variant,p.=,ENST00000582970,NM_001256071.2;RNF213,synonymous_variant,p.=,ENST00000508628,;CTD-2047H16.3,upstream_gene_variant,,ENST00000622931,;RNF213,downstream_gene_variant,,ENST00000559070,;RNF213,downstream_gene_variant,,ENST00000571908,;	G	ENST00000582970	Transcript	synonymous_variant	5366/21055	5223/15624	1741/5207	V	gtC/gtG		1		1	RNF213	HGNC	HGNC:14539	protein_coding	YES	CCDS58606.1	ENSP00000464087		A0A0A0MTR7	UPI00043788D6	NM_001256071.2			26/68		hmmpanther:PTHR22605:SF5,hmmpanther:PTHR22605																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	99	80339590	80339590	C	G	1	0	0	0	0	0	0	0	1	13656	900	32	4		4	RNF213	17	80339590	Silent	SNP	C	C3N-02423_TP	1535635	80339590	2917851	386	31305											
FASN	0	.	GRCh38	chr17	82079223	82079223	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggactccaggccgctgccctCcagcagcgtgcggtggtcac	5	6	14	16	3	1	0	1	0	0	0	3	1	3	1	4	4	4	2	4	4	0	0	rs779013746		C3N-02423_TP	C3N-02423_NB	C	C																c.7456G>C	p.Glu2486Gln	p.E2486Q	ENST00000306749	43/43	601	565	36	523	523	0	strelka-varscan-mutect	FASN,missense_variant,p.Glu2486Gln,ENST00000306749,NM_004104.4;FASN,missense_variant,p.Glu2484Gln,ENST00000634990,;FASN,3_prime_UTR_variant,,ENST00000636628,;FASN,3_prime_UTR_variant,,ENST00000580382,;FASN,non_coding_transcript_exon_variant,,ENST00000578424,;FASN,non_coding_transcript_exon_variant,,ENST00000584610,;	G	ENST00000306749	Transcript	missense_variant	7675/8565	7456/7536	2486/2511	E/Q	Gag/Cag	rs779013746	1		-1	FASN	HGNC	HGNC:3594	protein_coding	YES	CCDS11801.1	ENSP00000304592	P49327		UPI000013EB82	NM_004104.4	tolerated(0.37)		43/43		Gene3D:3.40.50.1820,Pfam_domain:PF00975,hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF280,Low_complexity_(Seg):seg,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		rs779013746	.												G	3	3	99	82079223	82079223	C	G	1	0	0	0	0	1	0	0	0	5543	864	30	4		4	FASN	17	82079223	Missense_Mutation	SNP	C	C3N-02423_TP	1739633	82079223	1178218	387	31306											
ANKRD30B	0	.	GRCh38	chr18	14851580	14851580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaaaaggaaattgccatGctaaaactggaagtagccac	17	8	9	7	0	0	1	0	1	0	0	0	3	0	3	2	2	4	2	2	2	7	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.3279G>T	p.Met1093Ile	p.M1093I	ENST00000358984	36/36	69	63	6	114	114	0	varscan-mutect	ANKRD30B,missense_variant,p.Met1093Ile,ENST00000358984,NM_001145029.1;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000320584,;	T	ENST00000358984	Transcript	missense_variant	3459/4359	3279/4179	1093/1392	M/I	atG/atT		1		1	ANKRD30B	HGNC	HGNC:24165	protein_coding	YES	CCDS54182.1	ENSP00000351875	Q9BXX2		UPI0000425FF7	NM_001145029.1	tolerated(0.16)		36/36		Pfam_domain:PF14915,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20																	MODERATE	1	SNV	1			1										PASS		rs755113891	.												T	3	4	99	14851580	14851580	G	T	1	0	0	0	0	1	0	0	0	762	1319	46	2		2	ANKRD30B	18	14851580	Missense_Mutation	SNP	G	C3N-02423_TP		14851580	65521705	388	31307											
TTC39C	0	.	GRCh38	chr18	24080633	24080633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagcctggaagatttacaAtaaatgctatctggacatca	16	10	8	7	0	2	1	1	0	1	1	2	4	2	3	1	2	3	1	1	2	7	4	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.509A>G	p.Asn170Ser	p.N170S	ENST00000317571	5/14	147	119	28	158	158	0	strelka-varscan-mutect	TTC39C,missense_variant,p.Asn170Ser,ENST00000317571,NM_001135993.1;TTC39C,missense_variant,p.Asn109Ser,ENST00000304621,NM_153211.3;RP11-403A21.3,intron_variant,,ENST00000578443,;TTC39C,non_coding_transcript_exon_variant,,ENST00000578150,;	G	ENST00000317571	Transcript	missense_variant	745/2442	509/1752	170/583	N/S	aAt/aGt		1		1	TTC39C	HGNC	HGNC:26595	protein_coding	YES	CCDS45839.1	ENSP00000323645	Q8N584		UPI0000EF8875	NM_001135993.1	tolerated(0.07)		5/14		Pfam_domain:PF10300,hmmpanther:PTHR31859,hmmpanther:PTHR31859:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	24080633	24080633	A	G	1	0	0	0	0	1	0	0	0	17218	101	4	5		5	TTC39C	18	24080633	Missense_Mutation	SNP	A	C3N-02423_TP	9229053	24080633	56292652	389	31308											
ZNF521	0	.	GRCh38	chr18	25224924	25224924	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctaaaaactcctcttcactCtggagaggcatcttgcaaat	12	12	6	11	0	5	1	1	0	4	1	6	2	6	1	1	2	2	2	1	2	4	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.2994G>A	p.=	p.Q998Q	ENST00000361524	4/8	248	232	16	272	272	0	strelka-varscan-mutect	ZNF521,synonymous_variant,p.=,ENST00000361524,NM_015461.2;ZNF521,synonymous_variant,p.=,ENST00000584787,NM_001308225.1;ZNF521,synonymous_variant,p.=,ENST00000538137,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,synonymous_variant,p.=,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;	T	ENST00000361524	Transcript	synonymous_variant	3143/4871	2994/3936	998/1311	Q	caG/caA		1		-1	ZNF521	HGNC	HGNC:24605	protein_coding	YES	CCDS32806.1	ENSP00000354794	Q96K83		UPI000006F982	NM_015461.2			4/8		hmmpanther:PTHR24402:SF222,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,SMART_domains:SM00355																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	25224924	25224924	C	T	1	0	0	0	0	0	0	0	1	18537	912	32	3		3	ZNF521	18	25224924	Silent	SNP	C	C3N-02423_TP	1144291	25224924	55148361	390	31309											
EPG5	0	.	GRCh38	chr18	45916525	45916525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgggtgacctgttgtgtGacaccctgagggacaccgct	6	11	14	10	1	0	3	0	3	0	0	0	4	0	4	3	2	0	2	3	2	0	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.3297C>T	p.=	p.V1099V	ENST00000282041	18/44	119	110	9	113	113	0	strelka-varscan-mutect	EPG5,synonymous_variant,p.=,ENST00000282041,NM_020964.2;EPG5,non_coding_transcript_exon_variant,,ENST00000585906,;EPG5,non_coding_transcript_exon_variant,,ENST00000586655,;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;EPG5,upstream_gene_variant,,ENST00000587884,;EPG5,upstream_gene_variant,,ENST00000592272,;EPG5,upstream_gene_variant,,ENST00000590884,;	A	ENST00000282041	Transcript	synonymous_variant	3332/12633	3297/7740	1099/2579	V	gtC/gtT		1		-1	EPG5	HGNC	HGNC:29331	protein_coding	YES	CCDS11926.2	ENSP00000282041	Q9HCE0		UPI00004F6F8A	NM_020964.2			18/44		hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	99	45916525	45916525	G	A	1	0	0	0	0	0	0	0	1	5010	1277	45	3		3	EPG5	18	45916525	Silent	SNP	G	C3N-02423_TP	20691601	45916525	34456760	391	31310											
EPG5	0	.	GRCh38	chr18	45922532	45922532	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttagcctcaagattaaattCcaggcccattggttaaatga	13	13	7	8	0	1	2	1	1	0	1	2	2	2	2	3	2	1	1	3	2	6	6			C3N-02423_TP	C3N-02423_NB	C	C																c.2907G>A	p.Trp969Ter	p.W969*	ENST00000282041	16/44	383	313	70	430	430	0	strelka-varscan-mutect	EPG5,stop_gained,p.Trp969Ter,ENST00000282041,NM_020964.2;EPG5,upstream_gene_variant,,ENST00000585906,;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;	T	ENST00000282041	Transcript	stop_gained	2942/12633	2907/7740	969/2579	W/*	tgG/tgA	COSM1480334	1		-1	EPG5	HGNC	HGNC:29331	protein_coding	YES	CCDS11926.2	ENSP00000282041	Q9HCE0		UPI00004F6F8A	NM_020964.2			16/44		hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4											1						HIGH	1	SNV	2		1	1										PASS		.	.												T	4	4	99	45922532	45922532	C	T	1	0	0	0	0	0	1	0	0	5010	856	30	3		3	EPG5	18	45922532	Nonsense_Mutation	SNP	C	C3N-02423_TP	6007	45922532	34450753	392	31311											
CTIF	0	.	GRCh38	chr18	48859435	48859435	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaagatgctgtgcccctCggagtccatgctgacccggt	7	8	13	13	2	0	2	0	1	0	1	2	4	1	4	4	3	3	2	4	3	1	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1679C>A	p.Ser560Ter	p.S560*	ENST00000382998	13/13	457	416	41	407	406	1	strelka-varscan-mutect	CTIF,stop_gained,p.Ser558Ter,ENST00000256413,NM_014772.2;CTIF,stop_gained,p.Ser560Ter,ENST00000382998,NM_001142397.1;CTIF,upstream_gene_variant,,ENST00000592658,;CTIF,upstream_gene_variant,,ENST00000590422,;CTIF,non_coding_transcript_exon_variant,,ENST00000587860,;	A	ENST00000382998	Transcript	stop_gained	1936/4407	1679/1803	560/600	S/*	tCg/tAg		1		1	CTIF	HGNC	HGNC:23925	protein_coding	YES	CCDS45864.1	ENSP00000372459	O43310		UPI0000074650	NM_001142397.1			13/13		hmmpanther:PTHR23254,Gene3D:1.25.40.180,Pfam_domain:PF02854,SMART_domains:SM00543,Superfamily_domains:SSF48371																	HIGH	1	SNV	1			1										PASS		rs1428809381	.												A	4	1	99	48859435	48859435	C	A	1	0	0	0	0	0	1	0	0	3819	893	31	1		1	CTIF	18	48859435	Nonsense_Mutation	SNP	C	C3N-02423_TP	2936903	48859435	31513850	393	31312											
ZADH2	0	.	GRCh38	chr18	75201679	75201679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttcttgagcagtttggCtggcaatgttcctgctttca	7	16	10	8	0	2	2	1	1	1	1	3	2	3	2	1	2	2	6	1	2	1	5	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.871G>A	p.Ala291Thr	p.A291T	ENST00000322342	2/2	189	172	17	202	202	0	strelka-varscan-mutect	ZADH2,missense_variant,p.Ala291Thr,ENST00000322342,NM_175907.4;ZADH2,missense_variant,p.Ala168Thr,ENST00000537114,NM_001306093.1;ZADH2,downstream_gene_variant,,ENST00000582437,;ZADH2,downstream_gene_variant,,ENST00000581620,;	T	ENST00000322342	Transcript	missense_variant	1161/7732	871/1134	291/377	A/T	Gcc/Acc		1		-1	ZADH2	HGNC	HGNC:28697	protein_coding	YES	CCDS12008.1	ENSP00000323678	Q8N4Q0		UPI00000350AF	NM_175907.4	tolerated(0.5)		2/2		hmmpanther:PTHR11695:SF264,hmmpanther:PTHR11695,Pfam_domain:PF00107,Gene3D:3.40.50.720,SMART_domains:SM00829,Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	75201679	75201679	C	T	1	0	0	0	0	1	0	0	0	18073	797	28	3		3	ZADH2	18	75201679	Missense_Mutation	SNP	C	C3N-02423_TP	26342244	75201679	5171606	394	31313											
C2CD4C	0	.	GRCh38	chr19	407549	407549	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccggctcccggggctggcGtccggggtgctgtcgtccgc	0	7	18	16	7	0	0	0	0	0	0	4	0	3	0	4	6	1	3	4	6	0	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.813C>T	p.=	p.D271D	ENST00000332235	2/2	28	23	5	38	38	0	strelka-varscan-mutect	C2CD4C,synonymous_variant,p.=,ENST00000332235,NM_001136263.1;	A	ENST00000332235	Transcript	synonymous_variant	1018/3129	813/1266	271/421	D	gaC/gaT		1		-1	C2CD4C	HGNC	HGNC:29417	protein_coding	YES	CCDS45890.1	ENSP00000328677	Q8TF44		UPI00001C2016	NM_001136263.1			2/2		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF116																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	99	407549	407549	G	A	1	0	0	0	0	0	0	0	1	2028	1136	40	1		1	C2CD4C	19	407549	Silent	SNP	G	C3N-02423_TP		407549	58210067	395	31314											
SLC39A3	0	.	GRCh38	chr19	2733113	2733113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacaggctcaccactttctCcccctcctcctgcaggccca	7	8	6	20	0	2	0	1	0	1	0	5	1	4	0	6	2	2	2	6	2	1	1			C3N-02423_TP	C3N-02423_NB	C	C																c.583G>A	p.Glu195Lys	p.E195K	ENST00000269740	3/3	169	152	17	160	160	0	strelka-varscan-mutect	SLC39A3,missense_variant,p.Glu195Lys,ENST00000269740,NM_144564.4;SLC39A3,missense_variant,p.Glu195Lys,ENST00000545664,;AC006538.4,intron_variant,,ENST00000586572,;SLC39A3,downstream_gene_variant,,ENST00000455372,NM_213568.1;SLC39A3,downstream_gene_variant,,ENST00000589363,;SLC39A3,downstream_gene_variant,,ENST00000589166,;AC006538.1,upstream_gene_variant,,ENST00000567905,;SLC39A3,downstream_gene_variant,,ENST00000590875,;	T	ENST00000269740	Transcript	missense_variant	913/1502	583/945	195/314	E/K	Gag/Aag	COSM4727328	1		-1	SLC39A3	HGNC	HGNC:17128	protein_coding	YES	CCDS12093.1	ENSP00000269740	Q9BRY0		UPI00001B216E	NM_144564.4	tolerated(0.83)		3/3		Low_complexity_(Seg):seg,hmmpanther:PTHR11040:SF64,hmmpanther:PTHR11040,Pfam_domain:PF02535											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	99	2733113	2733113	C	T	1	0	0	0	0	1	0	0	0	14897	864	30	3		3	SLC39A3	19	2733113	Missense_Mutation	SNP	C	C3N-02423_TP	2325564	2733113	55884503	396	31315											
DAPK3	0	.	GRCh38	chr19	3964772	3964772	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctccccgccagagaccagCtccaggatgaggaccacgtc	10	4	11	16	2	0	2	0	1	0	1	3	5	2	4	6	2	2	2	6	2	0	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.282G>A	p.=	p.E94E	ENST00000545797	3/9	265	245	20	259	259	0	strelka-varscan-mutect	DAPK3,synonymous_variant,p.=,ENST00000545797,NM_001348.2;DAPK3,synonymous_variant,p.=,ENST00000301264,;DAPK3,synonymous_variant,p.=,ENST00000596311,;DAPK3,synonymous_variant,p.=,ENST00000593844,;DAPK3,synonymous_variant,p.=,ENST00000601824,;DAPK3,upstream_gene_variant,,ENST00000594894,;DAPK3,upstream_gene_variant,,ENST00000385000,;DAPK3,upstream_gene_variant,,ENST00000595279,;	T	ENST00000545797	Transcript	synonymous_variant	526/2257	282/1365	94/454	E	gaG/gaA		1		-1	DAPK3	HGNC	HGNC:2676	protein_coding	YES	CCDS12116.1	ENSP00000442973	O43293		UPI000006F7FA	NM_001348.2			3/9		PROSITE_profiles:PS50011,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	2			1										PASS		.	.												T	2	4	99	3964772	3964772	C	T	1	0	0	0	0	0	0	0	1	4038	796	28	3		3	DAPK3	19	3964772	Silent	SNP	C	C3N-02423_TP	1231659	3964772	54652844	397	31316											
FUT5	0	.	GRCh38	chr19	5867683	5867683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcccggccagacagcGgcgccacagccactgtggct	8	3	13	17	3	0	1	0	0	0	1	0	1	0	1	4	3	4	2	4	3	0	0	rs561364366		C3N-02423_TP	C3N-02423_NB	G	G																c.43C>T	p.Arg15Cys	p.R15C	ENST00000588525	2/2	321	297	24	322	321	1	strelka-varscan-mutect	FUT5,missense_variant,p.Arg15Cys,ENST00000588525,NM_002034.2;FUT5,missense_variant,p.Arg15Cys,ENST00000252675,;AC024592.12,missense_variant,p.Pro147Leu,ENST00000586349,;AC024592.12,missense_variant,p.Pro122Leu,ENST00000585661,;AC024592.12,3_prime_UTR_variant,,ENST00000592091,;	A	ENST00000588525	Transcript	missense_variant	131/1988	43/1125	15/374	R/C	Cgc/Tgc	rs561364366	1		-1	FUT5	HGNC	HGNC:4016	protein_coding	YES	CCDS12154.1	ENSP00000466880		K7ENC0	UPI000013CD7B	NM_002034.2	tolerated(0.18)		2/2		hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF150,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs561364366	.												A	3	1	99	5867683	5867683	G	A	1	0	0	0	0	1	0	0	0	5979	1116	39	1		1	FUT5	19	5867683	Missense_Mutation	SNP	G	C3N-02423_TP	1902911	5867683	52749933	398	31317											
MUC16	0	.	GRCh38	chr19	8898986	8898986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgtcctccccatactgcaGattggtgatggtaaagttga	10	12	10	9	0	0	3	0	2	0	1	2	3	2	3	3	2	2	3	3	2	3	4	rs747610660		C3N-02423_TP	C3N-02423_NB	G	G																c.39064C>G	p.Leu13022Val	p.L13022V	ENST00000397910	39/84	173	164	9	210	210	0	varscan-mutect	MUC16,missense_variant,p.Leu13022Val,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000601404,;	C	ENST00000397910	Transcript	missense_variant	39268/43816	39064/43524	13022/14507	L/V	Ctg/Gtg	rs747610660,COSM715537,COSM715538	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			39/84		PROSITE_profiles:PS50024,hmmpanther:PTHR14672,Gene3D:1ivzA00,Pfam_domain:PF01390,SMART_domains:SM00200,Superfamily_domains:0047452											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs747610660	.												C	3	2	99	8898986	8898986	G	C	1	0	0	0	0	1	0	0	0	9972	933	33	4		4	MUC16	19	8898986	Missense_Mutation	SNP	G	C3N-02423_TP	3031303	8898986	49718630	399	31318											
MUC16	0	.	GRCh38	chr19	8935939	8935939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtccgaattggaacagtGaagccagtctgtgtcccagg	11	8	12	10	1	1	1	0	1	1	0	3	3	3	2	3	2	2	0	3	2	3	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.35016C>T	p.=	p.F11672F	ENST00000397910	5/84	232	210	22	248	248	0	strelka-varscan-mutect	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;	A	ENST00000397910	Transcript	synonymous_variant	35220/43816	35016/43524	11672/14507	F	ttC/ttT		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			5/84																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	99	8935939	8935939	G	A	1	0	0	0	0	0	0	0	1	9972	1281	45	3		3	MUC16	19	8935939	Silent	SNP	G	C3N-02423_TP	36953	8935939	49681677	400	31319											
MUC16	0	.	GRCh38	chr19	8936789	8936789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttattgttggaaaatctGaagtggcttctgccccagga	10	12	11	8	0	2	1	0	1	2	0	2	3	2	3	2	3	1	3	2	3	4	4			C3N-02423_TP	C3N-02423_NB	G	G																c.34166C>T	p.Ser11389Leu	p.S11389L	ENST00000397910	5/84	162	146	16	219	219	0	strelka-varscan-mutect	MUC16,missense_variant,p.Ser11389Leu,ENST00000397910,NM_024690.2;	A	ENST00000397910	Transcript	missense_variant	34370/43816	34166/43524	11389/14507	S/L	tCa/tTa	COSM4768342,COSM4768343	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			5/84													1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	99	8936789	8936789	G	A	1	0	0	0	0	1	0	0	0	9972	1294	45	3		3	MUC16	19	8936789	Missense_Mutation	SNP	G	C3N-02423_TP	850	8936789	49680827	401	31320											
MUC16	0	.	GRCh38	chr19	8938586	8938586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattgaggtcaccaaccgtGatacagcaggcgagatagtt	12	8	11	10	2	1	3	1	2	0	1	1	4	1	3	3	2	3	2	3	2	3	4			C3N-02423_TP	C3N-02423_NB	G	G																c.32369C>T	p.Ser10790Leu	p.S10790L	ENST00000397910	5/84	137	124	13	197	197	0	strelka-mutect	MUC16,missense_variant,p.Ser10790Leu,ENST00000397910,NM_024690.2;	A	ENST00000397910	Transcript	missense_variant	32573/43816	32369/43524	10790/14507	S/L	tCa/tTa	COSM4849067,COSM4849068	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			5/84													1,1						MODERATE	1	SNV	5		1,1	1										PASS		.	.												A	3	1	99	8938586	8938586	G	A	1	0	0	0	0	1	0	0	0	9972	1294	45	3		3	MUC16	19	8938586	Missense_Mutation	SNP	G	C3N-02423_TP	1797	8938586	49679030	402	31321											
COL5A3	0	.	GRCh38	chr19	9996230	9996230	+	Frame_Shift_Del	DEL	C	C	-																															gggcctgggcgcccagtgagCcccactggaccaggggggcc																								novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1455delG	p.Leu486SerfsTer16	p.L486Sfs*16	ENST00000264828	14/67	21	16	5	43	43	0	sindel-pindel	COL5A3,frameshift_variant,p.Leu486SerfsTer16,ENST00000264828,NM_015719.3;CTD-2553C6.1,non_coding_transcript_exon_variant,,ENST00000592332,;	-	ENST00000264828	Transcript	frameshift_variant	1541/6174	1455/5238	485/1745	G/X	ggG/gg		1		-1	COL5A3	HGNC	HGNC:14864	protein_coding	YES	CCDS12222.1	ENSP00000264828	P25940		UPI00002032A3	NM_015719.3			14/67		Pfam_domain:PF01391																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	99	9996230	9996230	C	-	1	0	1	0	1	0	0	0	0	3487	726	26	0		0	COL5A3	19	9996230	Frame_Shift_Del	DEL	C	C3N-02423_TP	1057644	9996230	48621386	403	31322											
CDC37	0	.	GRCh38	chr19	10403431	10403431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgttggggtgcgtctcgtCttcatcatcagacacctcaa	8	12	10	11	2	6	1	4	0	2	1	7	2	6	1	1	2	1	1	1	2	1	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.49G>C	p.Asp17His	p.D17H	ENST00000222005	1/8	285	269	16	232	232	0	strelka-mutect	CDC37,missense_variant,p.Asp17His,ENST00000222005,NM_007065.3;CDC37,missense_variant,p.Asp17His,ENST00000593124,;CDC37,missense_variant,p.Asp17His,ENST00000589629,;CDC37,downstream_gene_variant,,ENST00000408639,;CDC37,missense_variant,p.Asp17His,ENST00000588869,;CDC37,non_coding_transcript_exon_variant,,ENST00000591248,;	G	ENST00000222005	Transcript	missense_variant	103/1608	49/1137	17/378	D/H	Gac/Cac		1		-1	CDC37	HGNC	HGNC:1735	protein_coding	YES	CCDS12237.1	ENSP00000222005	Q16543	A0A024R7B7	UPI000012723D	NM_007065.3	deleterious(0)		1/8		hmmpanther:PTHR12800:SF3,hmmpanther:PTHR12800,Pfam_domain:PF03234,SMART_domains:SM01071																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	10403431	10403431	C	G	1	0	0	0	0	1	0	0	0	2771	913	32	4		4	CDC37	19	10403431	Missense_Mutation	SNP	C	C3N-02423_TP	407201	10403431	48214185	404	31323											
C19orf43	0	.	GRCh38	chr19	12734343	12734343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggagcccggaccgcccttCctcttcggatccccggggcc	3	7	13	18	4	1	0	0	0	1	0	4	3	3	3	7	5	1	0	7	5	0	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.315G>T	p.Arg105Ser	p.R105S	ENST00000242784	1/3	30	26	4	39	39	0	strelka-mutect	C19orf43,missense_variant,p.Arg105Ser,ENST00000242784,NM_024038.2;C19orf43,missense_variant,p.Arg105Ser,ENST00000588213,;C19orf43,missense_variant,p.Arg105Ser,ENST00000592273,;ASNA1,upstream_gene_variant,,ENST00000591090,;ASNA1,upstream_gene_variant,,ENST00000357332,NM_004317.2;ASNA1,upstream_gene_variant,,ENST00000611688,;ASNA1,upstream_gene_variant,,ENST00000586561,;C19orf43,missense_variant,p.Arg105Ser,ENST00000591254,;C19orf43,upstream_gene_variant,,ENST00000589590,;ASNA1,upstream_gene_variant,,ENST00000590633,;	A	ENST00000242784	Transcript	missense_variant	433/970	315/531	105/176	R/S	agG/agT		1		-1	C19orf43	HGNC	HGNC:28424	protein_coding	YES	CCDS12279.1	ENSP00000242784	Q9BQ61		UPI00000701FA	NM_024038.2	tolerated(0.6)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR34753:SF1,hmmpanther:PTHR34753																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	12734343	12734343	C	A	1	0	0	0	0	1	0	0	0	1910	854	30	2		2	C19orf43	19	12734343	Missense_Mutation	SNP	C	C3N-02423_TP	2330912	12734343	45883273	405	31324											
C19orf43	0	.	GRCh38	chr19	12734633	12734633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcctcccggccctgaggctCcgcccgtctccctcgggcag	3	6	12	20	4	1	1	0	1	1	0	5	1	3	1	6	3	1	2	6	3	0	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.25G>A	p.Glu9Lys	p.E9K	ENST00000242784	1/3	162	152	10	142	142	0	strelka-varscan-mutect	C19orf43,missense_variant,p.Glu9Lys,ENST00000242784,NM_024038.2;C19orf43,missense_variant,p.Glu9Lys,ENST00000588213,;C19orf43,missense_variant,p.Glu9Lys,ENST00000592273,;ASNA1,upstream_gene_variant,,ENST00000591090,;ASNA1,upstream_gene_variant,,ENST00000357332,NM_004317.2;ASNA1,upstream_gene_variant,,ENST00000611688,;ASNA1,upstream_gene_variant,,ENST00000586561,;C19orf43,missense_variant,p.Glu9Lys,ENST00000591254,;C19orf43,upstream_gene_variant,,ENST00000589590,;ASNA1,upstream_gene_variant,,ENST00000590633,;	T	ENST00000242784	Transcript	missense_variant	143/970	25/531	9/176	E/K	Gag/Aag		1		-1	C19orf43	HGNC	HGNC:28424	protein_coding	YES	CCDS12279.1	ENSP00000242784	Q9BQ61		UPI00000701FA	NM_024038.2	deleterious_low_confidence(0)		1/3		Low_complexity_(Seg):seg,hmmpanther:PTHR34753:SF1,hmmpanther:PTHR34753																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	12734633	12734633	C	T	1	0	0	0	0	1	0	0	0	1910	864	30	3		3	C19orf43	19	12734633	Missense_Mutation	SNP	C	C3N-02423_TP	290	12734633	45882983	406	31325											
DDX39A	0	.	GRCh38	chr19	14413119	14413119	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggaaacgtaggatcccttGatgtctttcttagggggagc	9	12	13	7	1	2	1	0	1	2	0	3	4	3	4	1	4	2	1	1	4	3	4	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.102C>T	p.=	p.I34I	ENST00000242776	2/11	379	354	25	370	370	0	strelka-varscan-mutect	DDX39A,synonymous_variant,p.=,ENST00000242776,NM_005804.3;DDX39A,synonymous_variant,p.=,ENST00000454233,;DDX39A,synonymous_variant,p.=,ENST00000589675,;DDX39A,synonymous_variant,p.=,ENST00000586993,;DDX39A,synonymous_variant,p.=,ENST00000590315,;DDX39A,synonymous_variant,p.=,ENST00000590239,;DDX39A,synonymous_variant,p.=,ENST00000590696,;DDX39A,synonymous_variant,p.=,ENST00000591275,;ADGRE5,downstream_gene_variant,,ENST00000242786,NM_078481.3;ADGRE5,downstream_gene_variant,,ENST00000357355,NM_001025160.2;ADGRE5,downstream_gene_variant,,ENST00000358600,NM_001784.4;CTC-548K16.5,upstream_gene_variant,,ENST00000590626,;DDX39A,non_coding_transcript_exon_variant,,ENST00000593008,;DDX39A,synonymous_variant,p.=,ENST00000588692,;DDX39A,synonymous_variant,p.=,ENST00000324340,;DDX39A,non_coding_transcript_exon_variant,,ENST00000589318,;DDX39A,non_coding_transcript_exon_variant,,ENST00000588542,;DDX39A,non_coding_transcript_exon_variant,,ENST00000586558,;DDX39A,non_coding_transcript_exon_variant,,ENST00000590260,;DDX39A,non_coding_transcript_exon_variant,,ENST00000592632,;DDX39A,upstream_gene_variant,,ENST00000587730,;DDX39A,upstream_gene_variant,,ENST00000592391,;DDX39A,upstream_gene_variant,,ENST00000592927,;DDX39A,upstream_gene_variant,,ENST00000593026,;DDX39A,upstream_gene_variant,,ENST00000590556,;	A	ENST00000242776	Transcript	synonymous_variant	204/1471	102/1284	34/427	I	atC/atT		1		-1	DDX39A	HGNC	HGNC:17821	protein_coding	YES	CCDS12308.1	ENSP00000242776	O00148		UPI00000713A1	NM_005804.3			2/11		Gene3D:3.40.50.300,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF212																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	14413119	14413119	G	A	1	0	0	0	0	0	0	0	1	4159	1280	45	3		3	DDX39A	19	14413119	Silent	SNP	G	C3N-02423_TP	1678486	14413119	44204497	407	31326											
OR7A10	0	.	GRCh38	chr19	14841838	14841838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctctgaaattcccaggaGaagaaattctaaaattattg	15	13	6	7	0	2	3	0	1	2	2	4	4	4	3	2	1	0	0	2	1	6	6			C3N-02423_TP	C3N-02423_NB	G	G																c.40C>T	p.Leu14Phe	p.L14F	ENST00000248058	1/1	120	111	9	126	126	0	strelka-varscan-mutect	OR7A10,missense_variant,p.Leu14Phe,ENST00000248058,NM_001005190.1;	A	ENST00000248058	Transcript	missense_variant	40/930	40/930	14/309	L/F	Ctc/Ttc	COSM3822140	1		-1	OR7A10	HGNC	HGNC:8356	protein_coding	YES	CCDS32936.1	ENSP00000248058	O76100	A0A126GVC8	UPI0000130B4B	NM_001005190.1	deleterious_low_confidence(0.01)		1/1		hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF408,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		.	.												A	3	1	99	14841838	14841838	G	A	1	0	0	0	0	1	0	0	0	11284	942	33	3		3	OR7A10	19	14841838	Missense_Mutation	SNP	G	C3N-02423_TP	428719	14841838	43775778	408	31327											
UNC13A	0	.	GRCh38	chr19	17627567	17627567	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attgagtttcacctgaagctCcttcaggatgtcactggctt	8	14	9	10	0	3	2	3	2	0	0	4	3	4	3	2	2	1	3	2	2	1	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.3862G>C	p.Glu1288Gln	p.E1288Q	ENST00000519716	33/44	168	159	9	167	167	0	strelka-varscan-mutect	UNC13A,missense_variant,p.Glu1288Gln,ENST00000519716,NM_001080421.2;UNC13A,missense_variant,p.Glu1288Gln,ENST00000551649,;UNC13A,missense_variant,p.Glu1288Gln,ENST00000552293,;UNC13A,missense_variant,p.Glu1286Gln,ENST00000550896,;CTD-3149D2.2,downstream_gene_variant,,ENST00000624803,;UNC13A,non_coding_transcript_exon_variant,,ENST00000601528,;	G	ENST00000519716	Transcript	missense_variant	3862/9838	3862/5112	1288/1703	E/Q	Gag/Cag		1		-1	UNC13A	HGNC	HGNC:23150	protein_coding	YES	CCDS46013.2	ENSP00000429562	Q9UPW8		UPI00006C19A7	NM_001080421.2	deleterious(0.03)		33/44		hmmpanther:PTHR10480																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	99	17627567	17627567	C	G	1	0	0	0	0	1	0	0	0	17508	864	30	4		4	UNC13A	19	17627567	Missense_Mutation	SNP	C	C3N-02423_TP	2785729	17627567	40990049	409	31328											
ZNF730	0	.	GRCh38	chr19	23145701	23145701	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcaaactgtactacacaTaaaagaattactgagaaaaa	20	9	4	8	0	1	2	1	1	0	2	2	3	2	2	1	0	4	1	1	0	9	4	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.657T>A	p.His219Gln	p.H219Q	ENST00000597761	4/4	161	132	29	201	201	0	strelka-varscan-mutect	ZNF730,missense_variant,p.His219Gln,ENST00000597761,NM_001277403.1;ZNF730,downstream_gene_variant,,ENST00000599195,;	A	ENST00000597761	Transcript	missense_variant	856/2374	657/1512	219/503	H/Q	caT/caA		1		1	ZNF730	HGNC	HGNC:32470	protein_coding	YES	CCDS59371.1	ENSP00000472959	Q6ZMV8		UPI000035E7F4	NM_001277403.1	deleterious(0)		4/4		Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	99	23145701	23145701	T	A	1	0	0	0	0	1	0	0	0	18704	1403	49	4		4	ZNF730	19	23145701	Missense_Mutation	SNP	T	C3N-02423_TP	5518134	23145701	35471915	410	31329											
FFAR3	0	.	GRCh38	chr19	35359812	35359812	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagcaggagagcagcatgGagctgaaggagcagaaggga	14	2	19	6	0	0	3	0	1	0	2	0	7	0	6	0	5	5	6	0	5	2	0			C3N-02423_TP	C3N-02423_NB	G	G																c.922G>T	p.Glu308Ter	p.E308*	ENST00000327809	2/2	229	215	14	266	265	1	varscan-mutect	FFAR3,stop_gained,p.Glu308Ter,ENST00000327809,NM_005304.3;FFAR3,stop_gained,p.Glu308Ter,ENST00000594310,;	T	ENST00000327809	Transcript	stop_gained	1123/1796	922/1041	308/346	E/*	Gag/Tag	COSM994972	1		1	FFAR3	HGNC	HGNC:4499	protein_coding	YES	CCDS12459.1	ENSP00000328230	O14843	A0A0K0PUW7	UPI0000001C3F	NM_005304.3			2/2		hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF40											1						HIGH	1	SNV	1		1	1										PASS		rs1414980010	.												T	4	4	99	35359812	35359812	G	T	1	0	0	0	0	0	1	0	0	5692	1175	41	2		2	FFAR3	19	35359812	Nonsense_Mutation	SNP	G	C3N-02423_TP	12214111	35359812	23257804	411	31330											
PSENEN	0	.	GRCh38	chr19	35746741	35746741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgggcttcctcttctGggtgatagtgctcacctcct	4	14	11	12	0	3	1	1	1	2	0	5	1	5	1	3	2	2	3	3	2	1	3	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.200G>T	p.Trp67Leu	p.W67L	ENST00000587708	4/4	471	442	29	514	513	1	strelka-varscan-mutect	PSENEN,missense_variant,p.Trp67Leu,ENST00000587708,;PSENEN,missense_variant,p.Trp67Leu,ENST00000222266,NM_001281532.1,NM_172341.2;PSENEN,3_prime_UTR_variant,,ENST00000591949,;IGFLR1,upstream_gene_variant,,ENST00000246532,;IGFLR1,upstream_gene_variant,,ENST00000592537,NM_024660.2;LIN37,upstream_gene_variant,,ENST00000301159,NM_019104.2;U2AF1L4,upstream_gene_variant,,ENST00000412391,;U2AF1L4,upstream_gene_variant,,ENST00000378975,NM_001040425.2;IGFLR1,upstream_gene_variant,,ENST00000588992,;U2AF1L4,upstream_gene_variant,,ENST00000292879,NM_144987.3;LIN37,upstream_gene_variant,,ENST00000587751,;U2AF1L4,upstream_gene_variant,,ENST00000587886,;AC002398.11,downstream_gene_variant,,ENST00000591091,;AC002398.11,downstream_gene_variant,,ENST00000585365,;U2AF1L4,upstream_gene_variant,,ENST00000588100,;LIN37,upstream_gene_variant,,ENST00000591076,;AC002398.9,intron_variant,,ENST00000591613,;U2AF1L4,upstream_gene_variant,,ENST00000588892,;U2AF1L4,upstream_gene_variant,,ENST00000588980,;U2AF1L4,upstream_gene_variant,,ENST00000586476,;AD000671.6,upstream_gene_variant,,ENST00000589807,;U2AF1L4,upstream_gene_variant,,ENST00000590135,;LIN37,upstream_gene_variant,,ENST00000595455,;LIN37,upstream_gene_variant,,ENST00000587108,;LIN37,upstream_gene_variant,,ENST00000590706,;U2AF1L4,upstream_gene_variant,,ENST00000585554,;IGFLR1,upstream_gene_variant,,ENST00000588018,;U2AF1L4,upstream_gene_variant,,ENST00000587987,;U2AF1L4,upstream_gene_variant,,ENST00000592913,;U2AF1L4,upstream_gene_variant,,ENST00000591855,;U2AF1L4,upstream_gene_variant,,ENST00000591084,;U2AF1L4,upstream_gene_variant,,ENST00000594792,;U2AF1L4,upstream_gene_variant,,ENST00000585771,;U2AF1L4,upstream_gene_variant,,ENST00000591057,;LIN37,upstream_gene_variant,,ENST00000592871,;IGFLR1,upstream_gene_variant,,ENST00000589175,;U2AF1L4,upstream_gene_variant,,ENST00000589429,;U2AF1L4,upstream_gene_variant,,ENST00000600296,;U2AF1L4,upstream_gene_variant,,ENST00000601236,;U2AF1L4,upstream_gene_variant,,ENST00000590650,;	T	ENST00000587708	Transcript	missense_variant	883/1661	200/306	67/101	W/L	tGg/tTg		1		1	PSENEN	HGNC	HGNC:30100	protein_coding	YES	CCDS12474.1	ENSP00000468411	Q9NZ42		UPI000006FFC1		deleterious(0)		4/4		Pfam_domain:PF10251,hmmpanther:PTHR16318,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	35746741	35746741	G	T	1	0	0	0	0	1	0	0	0	12803	1357	47	2		2	PSENEN	19	35746741	Missense_Mutation	SNP	G	C3N-02423_TP	386929	35746741	22870875	412	31331											
APLP1	0	.	GRCh38	chr19	35874660	35874660	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgcaggcagatccgcctCaggtgcggggaccgtggggg	5	5	18	13	3	1	1	1	0	0	1	2	2	2	2	4	6	2	2	4	6	0	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1213C>T	p.Gln405Ter	p.Q405*	ENST00000221891	9/17	124	109	15	119	119	0	strelka-varscan-mutect	APLP1,stop_gained,p.Gln405Ter,ENST00000221891,NM_005166.3,NM_001024807.1;APLP1,stop_gained,p.Gln366Ter,ENST00000537454,;APLP1,stop_gained,p.Gln399Ter,ENST00000586861,;APLP1,stop_gained,p.Gln52Ter,ENST00000587274,;APLP1,intron_variant,,ENST00000588808,;APLP1,downstream_gene_variant,,ENST00000592316,;APLP1,downstream_gene_variant,,ENST00000589743,;APLP1,splice_region_variant,,ENST00000589298,;APLP1,upstream_gene_variant,,ENST00000591165,;APLP1,splice_region_variant,,ENST00000590561,;APLP1,upstream_gene_variant,,ENST00000590926,;	T	ENST00000221891	Transcript	stop_gained,splice_region_variant	1405/2495	1213/1956	405/651	Q/*	Cag/Tag		1		1	APLP1	HGNC	HGNC:597	protein_coding	YES	CCDS32997.1	ENSP00000221891	P51693		UPI000020215E	NM_005166.3,NM_001024807.1			9/17		hmmpanther:PTHR23103,Pfam_domain:PF12925,Superfamily_domains:0043391																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	99	35874660	35874660	C	T	1	0	0	0	0	0	1	0	0	900	840	29	3		3	APLP1	19	35874660	Nonsense_Mutation	SNP	C	C3N-02423_TP	127919	35874660	22742956	413	31332											
ZNF565	0	.	GRCh38	chr19	36183168	36183168	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttctttgatgcagaatCagctgtgaatgctgcctaaa	11	13	10	7	0	2	4	1	3	1	1	2	4	2	4	1	0	4	4	1	0	4	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.798G>T	p.=	p.L266L	ENST00000304116	5/5	217	199	18	236	236	0	strelka-varscan-mutect	ZNF565,synonymous_variant,p.=,ENST00000355114,;ZNF565,synonymous_variant,p.=,ENST00000304116,NM_152477.4;ZNF565,synonymous_variant,p.=,ENST00000392173,NM_001042474.2;ZNF565,synonymous_variant,p.=,ENST00000591473,;	A	ENST00000304116	Transcript	synonymous_variant	915/2023	798/1500	266/499	L	ctG/ctT		1		-1	ZNF565	HGNC	HGNC:26726	protein_coding	YES	CCDS12491.1	ENSP00000306869	Q8N9K5		UPI000006E728	NM_152477.4			5/5		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF70,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	99	36183168	36183168	C	A	1	0	0	0	0	0	0	0	1	18570	813	29	2		2	ZNF565	19	36183168	Silent	SNP	C	C3N-02423_TP	308508	36183168	22434448	414	31333											
MAP4K1	0	.	GRCh38	chr19	38609940	38609940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catcctcaatgtccccaatgGagggtcctttcccgggattc	7	11	9	14	1	1	0	1	0	0	0	6	2	5	2	5	3	0	0	5	3	2	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.896C>T	p.Ser299Phe	p.S299F	ENST00000591517	12/32	164	148	16	176	176	0	strelka-mutect	MAP4K1,missense_variant,p.Ser299Phe,ENST00000591517,NM_007181.5;MAP4K1,missense_variant,p.Ser295Phe,ENST00000589130,;MAP4K1,missense_variant,p.Ser299Phe,ENST00000396857,NM_001042600.2;MAP4K1,missense_variant,p.Ser299Phe,ENST00000586296,;MAP4K1,upstream_gene_variant,,ENST00000591921,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000589002,;MAP4K1,3_prime_UTR_variant,,ENST00000585583,;MAP4K1,downstream_gene_variant,,ENST00000591707,;MAP4K1,downstream_gene_variant,,ENST00000592888,;MAP4K1,downstream_gene_variant,,ENST00000592225,;MAP4K1,downstream_gene_variant,,ENST00000588083,;	A	ENST00000591517	Transcript	missense_variant	925/2700	896/2502	299/833	S/F	tCc/tTc		1		-1	MAP4K1	HGNC	HGNC:6863	protein_coding	YES	CCDS59385.1	ENSP00000465039	Q92918		UPI00000747ED	NM_007181.5	tolerated(0.7)		12/32		hmmpanther:PTHR24361:SF88,hmmpanther:PTHR24361,PIRSF_domain:PIRSF038172																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	38609940	38609940	G	A	1	0	0	0	0	1	0	0	0	9183	1174	41	3		3	MAP4K1	19	38609940	Missense_Mutation	SNP	G	C3N-02423_TP	2426772	38609940	20007676	415	31334											
PLEKHG2	0	.	GRCh38	chr19	39425067	39425067	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggctcctggtcctctgctCccacgtcacgggcatcttcg	3	10	12	16	3	3	0	1	0	2	0	7	0	6	0	3	4	1	3	3	4	0	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.3934C>A	p.Pro1312Thr	p.P1312T	ENST00000425673	19/19	41	29	12	60	60	0	strelka-varscan-mutect	PLEKHG2,missense_variant,p.Pro1312Thr,ENST00000425673,NM_022835.2;PLEKHG2,missense_variant,p.Pro1180Thr,ENST00000205135,;PLEKHG2,intron_variant,,ENST00000458508,;PLEKHG2,intron_variant,,ENST00000409797,;PLEKHG2,intron_variant,,ENST00000596339,;PLEKHG2,intron_variant,,ENST00000600210,;PLEKHG2,intron_variant,,ENST00000596443,;PLEKHG2,intron_variant,,ENST00000598238,;PLEKHG2,intron_variant,,ENST00000594124,;PLEKHG2,intron_variant,,ENST00000594161,;PLEKHG2,downstream_gene_variant,,ENST00000474449,;PLEKHG2,downstream_gene_variant,,ENST00000478523,;PLEKHG2,downstream_gene_variant,,ENST00000594307,;	A	ENST00000425673	Transcript	missense_variant	4784/8132	3934/4161	1312/1386	P/T	Ccc/Acc		1		1	PLEKHG2	HGNC	HGNC:29515	protein_coding	YES	CCDS33022.2	ENSP00000392906	Q9H7P9		UPI00001C2028	NM_022835.2	deleterious_low_confidence(0)		19/19		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF135,Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	99	39425067	39425067	C	A	1	0	0	0	0	1	0	0	0	12162	855	30	2		2	PLEKHG2	19	39425067	Missense_Mutation	SNP	C	C3N-02423_TP	815127	39425067	19192549	416	31335											
FCGBP	0	.	GRCh38	chr19	39879843	39879843	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcacacgccctggccaccCtgctccttgcatgtctcctg	5	9	9	18	1	1	0	0	0	1	0	3	0	2	0	5	2	2	3	5	2	0	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.8580G>T	p.Gln2860His	p.Q2860H	ENST00000616721	19/28	190	178	12	208	208	0	varscan-mutect	FCGBP,missense_variant,p.Gln2860His,ENST00000616721,NM_003890.2;	A	ENST00000616721	Transcript	missense_variant	8588/12787	8580/12615	2860/4204	Q/H	caG/caT		1		-1	FCGBP	HGNC	HGNC:13572	protein_coding	YES		ENSP00000481056		A0A087WXI2	UPI0004620B9E	NM_003890.2	tolerated(0.11)		19/28		SMART_domains:SM00274																	MODERATE	1	SNV	1			1										PASS		rs1303575880	.												A	3	1	99	39879843	39879843	C	A	1	0	0	0	0	1	0	0	0	5641	680	24	2		2	FCGBP	19	39879843	Missense_Mutation	SNP	C	C3N-02423_TP	454776	39879843	18737773	417	31336											
NUMBL	0	.	GRCh38	chr19	40669948	40669948	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcgctccagcactggcaaaaGatgaactgatctgtgtgcac	11	8	11	11	1	1	3	0	2	1	1	2	3	2	3	1	1	3	4	1	1	3	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1109C>G	p.Ser370Cys	p.S370C	ENST00000252891	9/10	155	139	16	179	179	0	strelka-varscan-mutect	NUMBL,missense_variant,p.Ser370Cys,ENST00000252891,NM_004756.4;NUMBL,missense_variant,p.Ser329Cys,ENST00000598779,NM_001289979.1;NUMBL,missense_variant,p.Ser329Cys,ENST00000540131,NM_001289980.1;NUMBL,downstream_gene_variant,,ENST00000598773,;NUMBL,downstream_gene_variant,,ENST00000600967,;NUMBL,downstream_gene_variant,,ENST00000593367,;	C	ENST00000252891	Transcript	missense_variant	1277/3561	1109/1830	370/609	S/C	tCt/tGt		1		-1	NUMBL	HGNC	HGNC:8061	protein_coding	YES	CCDS12561.1	ENSP00000252891	Q9Y6R0		UPI000003032B	NM_004756.4	deleterious(0.01)		9/10		Pfam_domain:PF06311,PIRSF_domain:PIRSF017607,hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF32,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	40669948	40669948	G	C	1	0	0	0	0	1	0	0	0	10817	942	33	4		4	NUMBL	19	40669948	Missense_Mutation	SNP	G	C3N-02423_TP	790105	40669948	17947668	418	31337											
CEACAM20	0	.	GRCh38	chr19	44513274	44513274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgatggcccctgaggacaggGaggaggactggggacctggg	8	4	20	9	1	0	1	0	1	0	0	0	7	0	6	3	8	0	0	3	8	0	0	rs779003662		C3N-02423_TP	C3N-02423_NB	G	G																c.1325C>T	p.Ser442Phe	p.S442F	ENST00000614924	7/12	90	82	8	95	95	0	strelka-varscan-mutect	CEACAM20,missense_variant,p.Ser442Phe,ENST00000621342,;CEACAM20,missense_variant,p.Ser442Phe,ENST00000617951,;CEACAM20,missense_variant,p.Ser442Phe,ENST00000614924,NM_001102597.2;CEACAM20,missense_variant,p.Ser442Phe,ENST00000611497,NM_001102600.2;CEACAM20,missense_variant,p.Ser349Phe,ENST00000614577,NM_001102599.2;CEACAM20,missense_variant,p.Ser349Phe,ENST00000620096,NM_001102598.2;	A	ENST00000614924	Transcript	missense_variant	1341/1809	1325/1791	442/596	S/F	tCc/tTc	rs779003662,COSM4464260	1		-1	CEACAM20	HGNC	HGNC:24879	protein_coding	YES	CCDS74393.1	ENSP00000481937		A0A087WYM6	UPI0003EC04B5	NM_001102597.2	deleterious(0)		7/12		Low_complexity_(Seg):seg											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs779003662	.												A	3	1	99	44513274	44513274	G	A	1	0	0	0	0	1	0	0	0	2897	1174	41	3		3	CEACAM20	19	44513274	Missense_Mutation	SNP	G	C3N-02423_TP	3843326	44513274	14104342	419	31338											
CD3EAP	0	.	GRCh38	chr19	45407145	45407145	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgcgaagcccccagcctCagagtcccctcgtttctcct	6	9	7	19	3	2	1	1	0	1	1	5	2	3	1	7	0	3	1	7	0	2	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.80C>A	p.Ser27Ter	p.S27*	ENST00000589804	2/3	130	122	8	170	170	0	varscan-mutect	CD3EAP,stop_gained,p.Ser25Ter,ENST00000309424,NM_012099.1;CD3EAP,stop_gained,p.Ser27Ter,ENST00000589804,NM_001297590.1;CD3EAP,5_prime_UTR_variant,,ENST00000592852,;CD3EAP,intron_variant,,ENST00000590794,;ERCC1,downstream_gene_variant,,ENST00000300853,NM_001983.3;ERCC1,downstream_gene_variant,,ENST00000423698,;PPP1R13L,upstream_gene_variant,,ENST00000418234,NM_001142502.1;PPP1R13L,upstream_gene_variant,,ENST00000360957,NM_006663.3;ERCC1,downstream_gene_variant,,ENST00000589165,;ERCC1,downstream_gene_variant,,ENST00000340192,NM_001166049.1;ERCC1,downstream_gene_variant,,ENST00000591636,;PPP1R13L,upstream_gene_variant,,ENST00000593226,;PPP1R13L,upstream_gene_variant,,ENST00000592134,;ERCC1,downstream_gene_variant,,ENST00000590701,;ERCC1,downstream_gene_variant,,ENST00000588738,;PPP1R13L,upstream_gene_variant,,ENST00000585905,;	A	ENST00000589804	Transcript	stop_gained	86/1830	80/1539	27/512	S/*	tCa/tAa		1		1	CD3EAP	HGNC	HGNC:24219	protein_coding	YES	CCDS74397.1	ENSP00000465099	O15446		UPI000006DE66	NM_001297590.1			2/3		hmmpanther:PTHR15484,hmmpanther:PTHR15484:SF8																	HIGH	1	SNV	1			1										PASS		rs771308001	.												A	4	1	99	45407145	45407145	C	A	1	0	0	0	0	0	1	0	0	2716	838	29	2		2	CD3EAP	19	45407145	Nonsense_Mutation	SNP	C	C3N-02423_TP	893871	45407145	13210471	420	31339											
VASP	0	.	GRCh38	chr19	45525966	45525966	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcttctggaagaggtgaaGaaggaattgcagaaagtgaa	16	7	15	3	0	1	5	0	2	1	3	1	8	1	7	0	3	2	2	0	3	6	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1068G>A	p.=	p.K356K	ENST00000245932	12/13	178	161	17	167	167	0	strelka-mutect	VASP,synonymous_variant,p.=,ENST00000245932,NM_003370.3;OPA3,downstream_gene_variant,,ENST00000323060,NM_001017989.2;VASP,downstream_gene_variant,,ENST00000592139,;VASP,downstream_gene_variant,,ENST00000590603,;VASP,downstream_gene_variant,,ENST00000586619,;VASP,3_prime_UTR_variant,,ENST00000586014,;VASP,3_prime_UTR_variant,,ENST00000588482,;VASP,non_coding_transcript_exon_variant,,ENST00000588273,;VASP,non_coding_transcript_exon_variant,,ENST00000587444,;VASP,downstream_gene_variant,,ENST00000588463,;VASP,downstream_gene_variant,,ENST00000590459,;	A	ENST00000245932	Transcript	synonymous_variant	1424/2305	1068/1143	356/380	K	aaG/aaA		1		1	VASP	HGNC	HGNC:12652	protein_coding	YES	CCDS33051.1	ENSP00000245932	P50552	A0A024R0V4	UPI0000001C69	NM_003370.3			12/13		Superfamily_domains:0053530,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF08776,PIRSF_domain:PIRSF038010,hmmpanther:PTHR11202,hmmpanther:PTHR11202:SF12,Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	45525966	45525966	G	A	1	0	0	0	0	0	0	0	1	17673	933	33	3		3	VASP	19	45525966	Silent	SNP	G	C3N-02423_TP	118821	45525966	13091650	421	31340											
HIF3A	0	.	GRCh38	chr19	46329272	46329272	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggatgatgacttccagctCaacgccagcgagcagctacc	11	7	10	13	2	1	2	1	2	0	0	2	4	2	3	3	1	6	3	3	1	2	2	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1506C>T	p.=	p.L502L	ENST00000377670	12/15	136	128	8	132	132	0	strelka-varscan-mutect	HIF3A,synonymous_variant,p.=,ENST00000377670,NM_152795.3;HIF3A,synonymous_variant,p.=,ENST00000300862,NM_152794.3;HIF3A,synonymous_variant,p.=,ENST00000244303,NM_022462.4;HIF3A,synonymous_variant,p.=,ENST00000600383,;HIF3A,intron_variant,,ENST00000472815,NM_152796.2;AC007193.10,intron_variant,,ENST00000596807,;HIF3A,non_coding_transcript_exon_variant,,ENST00000244302,;HIF3A,non_coding_transcript_exon_variant,,ENST00000291300,;HIF3A,non_coding_transcript_exon_variant,,ENST00000529542,;HIF3A,downstream_gene_variant,,ENST00000528563,;	T	ENST00000377670	Transcript	synonymous_variant	1537/5852	1506/2010	502/669	L	ctC/ctT		1		1	HIF3A	HGNC	HGNC:15825	protein_coding	YES	CCDS12681.2	ENSP00000366898	Q9Y2N7		UPI00002026E2	NM_152795.3			12/15		hmmpanther:PTHR23043:SF18,hmmpanther:PTHR23043,Pfam_domain:PF11413																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	46329272	46329272	C	T	1	0	0	0	0	0	0	0	1	6990	813	29	3		3	HIF3A	19	46329272	Silent	SNP	C	C3N-02423_TP	803306	46329272	12288344	422	31341											
NKG7	0	.	GRCh38	chr19	51371815	51371815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacggggaccgccacagtGagcacccaggctcagggcac	10	2	15	14	2	1	1	1	1	0	0	1	3	1	3	3	5	1	3	3	5	0	0	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.460C>T	p.His154Tyr	p.H154Y	ENST00000221978	4/4	56	52	4	72	72	0	varscan-mutect	NKG7,missense_variant,p.His154Tyr,ENST00000221978,NM_005601.3;NKG7,missense_variant,p.His74Tyr,ENST00000600427,;NKG7,missense_variant,p.His61Tyr,ENST00000593572,;NKG7,missense_variant,p.His78Tyr,ENST00000595157,;NKG7,3_prime_UTR_variant,,ENST00000595217,;CLDND2,upstream_gene_variant,,ENST00000291715,NM_152353.2;CLDND2,upstream_gene_variant,,ENST00000601435,;CLDND2,upstream_gene_variant,,ENST00000593841,;CTD-2616J11.11,upstream_gene_variant,,ENST00000600067,;	A	ENST00000221978	Transcript	missense_variant	640/843	460/498	154/165	H/Y	Cac/Tac		1		-1	NKG7	HGNC	HGNC:7830	protein_coding	YES	CCDS12830.1	ENSP00000221978	Q16617		UPI00001301FE	NM_005601.3	tolerated(0.26)		4/4		hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF34																	MODERATE	1	SNV	1			1										PASS		rs1190666154	.												A	3	1	99	51371815	51371815	G	A	1	0	0	0	0	1	0	0	0	10478	1290	45	3		3	NKG7	19	51371815	Missense_Mutation	SNP	G	C3N-02423_TP	5042543	51371815	7245801	423	31342											
NLRP2	0	.	GRCh38	chr19	54982616	54982616	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgatcgaggacatctgcggGgactgggagaagaagaagcc	12	5	16	8	2	1	4	0	1	1	3	2	8	1	6	1	4	2	0	1	4	3	0			C3N-02423_TP	C3N-02423_NB	G	G																c.918G>A	p.=	p.G306G	ENST00000543010	6/13	207	170	37	258	258	0	strelka-varscan-mutect	NLRP2,synonymous_variant,p.=,ENST00000543010,NM_001174081.1;NLRP2,synonymous_variant,p.=,ENST00000448584,NM_017852.3;NLRP2,synonymous_variant,p.=,ENST00000537859,NM_001174082.1;NLRP2,synonymous_variant,p.=,ENST00000263437,;NLRP2,synonymous_variant,p.=,ENST00000339757,;NLRP2,synonymous_variant,p.=,ENST00000391721,;NLRP2,synonymous_variant,p.=,ENST00000427260,NM_001174083.1;NLRP2,upstream_gene_variant,,ENST00000540005,;NLRP2,downstream_gene_variant,,ENST00000588619,;NLRP2,downstream_gene_variant,,ENST00000588107,;NLRP2,downstream_gene_variant,,ENST00000585500,;NLRP2,downstream_gene_variant,,ENST00000397169,;NLRP2,downstream_gene_variant,,ENST00000433772,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,upstream_gene_variant,,ENST00000543277,;NLRP2,downstream_gene_variant,,ENST00000539848,;NLRP2,upstream_gene_variant,,ENST00000381637,;	A	ENST00000543010	Transcript	synonymous_variant	1061/3576	918/3189	306/1062	G	ggG/ggA	COSM3893504	1		1	NLRP2	HGNC	HGNC:22948	protein_coding	YES	CCDS12913.1	ENSP00000445135	Q9NX02		UPI000004C0CC	NM_001174081.1			6/13		PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF129,hmmpanther:PTHR24106,Gene3D:3.40.50.300,Pfam_domain:PF05729											1						LOW	1	SNV	1		1	1										PASS		rs1161320383	.												A	2	1	99	54982616	54982616	G	A	1	0	0	0	0	0	0	0	1	10514	1219	43	3		3	NLRP2	19	54982616	Silent	SNP	G	C3N-02423_TP	3610801	54982616	3635000	424	31343											
FIZ1	0	.	GRCh38	chr19	55592721	55592721	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agatcttcttgccgcggccgGagccagacgggggttccccg	5	7	15	14	5	2	2	0	0	2	2	3	3	3	3	5	4	2	1	5	4	0	3	rs753074266		C3N-02423_TP	C3N-02423_NB	G	G																c.1220C>G	p.Ser407Cys	p.S407C	ENST00000221665	3/3	247	229	18	217	217	0	strelka-varscan-mutect	FIZ1,missense_variant,p.Ser407Cys,ENST00000221665,NM_032836.2;FIZ1,downstream_gene_variant,,ENST00000590714,;FIZ1,downstream_gene_variant,,ENST00000587678,;FIZ1,downstream_gene_variant,,ENST00000592585,;	C	ENST00000221665	Transcript	missense_variant	1310/2660	1220/1491	407/496	S/C	tCc/tGc	rs753074266	1		-1	FIZ1	HGNC	HGNC:25917	protein_coding	YES	CCDS12928.1	ENSP00000221665	Q96SL8		UPI000013C7D7	NM_032836.2	deleterious(0.04)		3/3		hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF13																	MODERATE	1	SNV	1			1										PASS		rs753074266	.												C	3	2	99	55592721	55592721	G	C	1	0	0	0	0	1	0	0	0	5763	1174	41	4		4	FIZ1	19	55592721	Missense_Mutation	SNP	G	C3N-02423_TP	610105	55592721	3024895	425	31344											
ZNF784	0	.	GRCh38	chr19	55622013	55622013	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtggccgctaagcaccGaggactgggtgaagcccttg	7	6	17	11	3	0	1	0	1	0	0	0	3	0	2	3	4	2	2	3	4	2	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.710C>A	p.Ser237Ter	p.S237*	ENST00000325351	2/2	238	224	14	219	219	0	strelka-varscan-mutect	ZNF784,stop_gained,p.Ser237Ter,ENST00000325351,NM_203374.1;ZNF784,3_prime_UTR_variant,,ENST00000591479,;ZNF865,downstream_gene_variant,,ENST00000568956,NM_001195605.1;	T	ENST00000325351	Transcript	stop_gained	750/2021	710/972	237/323	S/*	tCg/tAg		1		-1	ZNF784	HGNC	HGNC:33111	protein_coding	YES	CCDS12930.1	ENSP00000320096	Q8NCA9		UPI000006D6D0	NM_203374.1			2/2		PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF36,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	99	55622013	55622013	G	T	1	0	0	0	0	0	1	0	0	18740	1059	37	1		1	ZNF784	19	55622013	Nonsense_Mutation	SNP	G	C3N-02423_TP	29292	55622013	2995603	426	31345											
ZNF256	0	.	GRCh38	chr19	57941418	57941418	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttccacattcactgcactCatatggcctttctcctgtgt	6	17	5	13	0	3	0	2	0	1	0	5	0	4	0	3	1	1	1	3	1	1	5	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1390G>C	p.Glu464Gln	p.E464Q	ENST00000282308	3/3	236	215	21	252	252	0	strelka-varscan-mutect	ZNF256,missense_variant,p.Glu464Gln,ENST00000282308,NM_005773.2;ZNF256,3_prime_UTR_variant,,ENST00000598928,;	G	ENST00000282308	Transcript	missense_variant	1587/2172	1390/1884	464/627	E/Q	Gag/Cag		1		-1	ZNF256	HGNC	HGNC:13049	protein_coding	YES	CCDS12966.1	ENSP00000282308	Q9Y2P7		UPI00001D69EC	NM_005773.2	deleterious(0.02)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF214,hmmpanther:PTHR24387,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	57941418	57941418	C	G	1	0	0	0	0	1	0	0	0	18375	835	29	4		4	ZNF256	19	57941418	Missense_Mutation	SNP	C	C3N-02423_TP	2319405	57941418	676198	427	31346			1	32		4	4	1072	C		6.798039e-07
ZNF256	0	.	GRCh38	chr19	57941866	57941866	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttctccagtatgaactctCtgatgtataagaaggtcata	12	14	7	8	0	3	3	1	2	2	1	5	3	3	3	1	1	1	2	1	1	6	5			C3N-02423_TP	C3N-02423_NB	C	C																c.942G>C	p.Gln314His	p.Q314H	ENST00000282308	3/3	238	224	14	252	252	0	strelka-varscan-mutect	ZNF256,missense_variant,p.Gln314His,ENST00000282308,NM_005773.2;ZNF256,3_prime_UTR_variant,,ENST00000598928,;	G	ENST00000282308	Transcript	missense_variant	1139/2172	942/1884	314/627	Q/H	caG/caC	COSM3540599,COSM3540600	1		-1	ZNF256	HGNC	HGNC:13049	protein_coding	YES	CCDS12966.1	ENSP00000282308	Q9Y2P7		UPI00001D69EC	NM_005773.2	tolerated(0.11)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF214,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	99	57941866	57941866	C	G	1	0	0	0	0	1	0	0	0	18375	912	32	4		4	ZNF256	19	57941866	Missense_Mutation	SNP	C	C3N-02423_TP	448	57941866	675750	428	31347			1	32		4	4	1072	C		6.798039e-07
ZNF256	0	.	GRCh38	chr19	57942269	57942269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgctgaagaaatcttgatCtcaccaggaaatccttccca	12	11	7	11	0	2	3	1	2	2	1	5	4	4	4	3	1	1	2	3	1	3	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.539G>C	p.Arg180Thr	p.R180T	ENST00000282308	3/3	281	260	21	299	298	1	strelka-varscan-mutect	ZNF256,missense_variant,p.Arg180Thr,ENST00000282308,NM_005773.2;ZNF256,3_prime_UTR_variant,,ENST00000598928,;	G	ENST00000282308	Transcript	missense_variant	736/2172	539/1884	180/627	R/T	aGa/aCa		1		-1	ZNF256	HGNC	HGNC:13049	protein_coding	YES	CCDS12966.1	ENSP00000282308	Q9Y2P7		UPI00001D69EC	NM_005773.2	tolerated(0.99)		3/3		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF214																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	57942269	57942269	C	G	1	0	0	0	0	1	0	0	0	18375	913	32	4		4	ZNF256	19	57942269	Missense_Mutation	SNP	C	C3N-02423_TP	403	57942269	675347	429	31348			1	32		4	4	1072	C		6.798039e-07
ZNF256	0	.	GRCh38	chr19	57942489	57942489	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtgtgttccttggtgttCaaccaagtgcaaaatctgtc	9	14	10	8	0	2	0	1	0	1	0	4	0	3	0	2	2	2	3	2	2	4	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.319G>C	p.Glu107Gln	p.E107Q	ENST00000282308	3/3	338	300	38	329	329	0	strelka-varscan-mutect	ZNF256,missense_variant,p.Glu107Gln,ENST00000282308,NM_005773.2;ZNF256,3_prime_UTR_variant,,ENST00000598928,;	G	ENST00000282308	Transcript	missense_variant	516/2172	319/1884	107/627	E/Q	Gaa/Caa		1		-1	ZNF256	HGNC	HGNC:13049	protein_coding	YES	CCDS12966.1	ENSP00000282308	Q9Y2P7		UPI00001D69EC	NM_005773.2	deleterious(0.02)		3/3		PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF214,PROSITE_patterns:PS00028,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	57942489	57942489	C	G	1	0	0	0	0	1	0	0	0	18375	835	29	4		4	ZNF256	19	57942489	Missense_Mutation	SNP	C	C3N-02423_TP	220	57942489	675127	430	31349			1	32		4	4	1072	C		6.798039e-07
PLCB4	0	.	GRCh38	chr20	9421456	9421456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaagagtcatttgtatttCggaaggtaggacattttcag	12	14	11	4	1	2	2	2	1	0	1	3	4	2	4	0	3	0	2	0	3	4	6	rs148851937		C3N-02423_TP	C3N-02423_NB	C	C																c.2278C>T	p.Arg760Trp	p.R760W	ENST00000378501	23/36	64	40	24	71	71	0	strelka-varscan-mutect	PLCB4,missense_variant,p.Arg760Trp,ENST00000378501,NM_000933.3;PLCB4,missense_variant,p.Arg760Trp,ENST00000378493,;PLCB4,missense_variant,p.Arg772Trp,ENST00000378473,NM_001172646.1;PLCB4,missense_variant,p.Arg760Trp,ENST00000278655,NM_182797.2;PLCB4,missense_variant,p.Arg772Trp,ENST00000414679,;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,;	T	ENST00000378501	Transcript	missense_variant	2293/5833	2278/3585	760/1194	R/W	Cgg/Tgg	rs148851937,COSM107902,COSM4100742	1		1	PLCB4	HGNC	HGNC:9059	protein_coding	YES	CCDS13104.1	ENSP00000367762	Q15147		UPI00002069DF	NM_000933.3	deleterious(0)		23/36		Gene3D:2.60.40.150,Pfam_domain:PF00168,PIRSF_domain:PIRSF000956,PROSITE_profiles:PS50004,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF106,SMART_domains:SM00239,Superfamily_domains:SSF49562											1,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs148851937	.												T	3	4	99	9421456	9421456	C	T	1	0	0	0	0	1	0	0	0	12124	898	31	1		1	PLCB4	20	9421456	Missense_Mutation	SNP	C	C3N-02423_TP		9421456	55022711	431	31350											
ZNF133	0	.	GRCh38	chr20	18316295	18316295	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccagcaatccaacctcAtcagacaccagaggacgcac	14	4	7	16	1	3	2	3	0	0	2	4	3	4	3	4	1	3	2	4	1	2	0	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.1483A>G	p.Ile495Val	p.I495V	ENST00000535822	3/3	87	60	27	109	109	0	strelka-varscan-mutect	ZNF133,missense_variant,p.Ile481Val,ENST00000396026,NM_001282995.1,NM_001083330.2;ZNF133,missense_variant,p.Ile481Val,ENST00000377671,NM_003434.5;ZNF133,missense_variant,p.Ile482Val,ENST00000622607,NM_001283001.1,NM_001283000.1,NM_001282999.1;ZNF133,missense_variant,p.Ile482Val,ENST00000401790,NM_001282997.1,NM_001282998.1;ZNF133,missense_variant,p.Ile419Val,ENST00000402618,NM_001283003.1,NM_001283004.1;ZNF133,missense_variant,p.Ile495Val,ENST00000535822,NM_001283006.1,NM_001283007.1;ZNF133,missense_variant,p.Ile485Val,ENST00000628216,NM_001283002.1;ZNF133,missense_variant,p.Ile463Val,ENST00000538547,NM_001283005.1;ZNF133,missense_variant,p.Ile482Val,ENST00000316358,;ZNF133,missense_variant,p.Ile387Val,ENST00000630056,NM_001283008.1;ZNF133,downstream_gene_variant,,ENST00000425686,;ZNF133,downstream_gene_variant,,ENST00000434018,;ZNF133,downstream_gene_variant,,ENST00000360010,;RP4-568F9.3,upstream_gene_variant,,ENST00000436848,;ZNF133,non_coding_transcript_exon_variant,,ENST00000462170,;ZNF133,downstream_gene_variant,,ENST00000626025,;	G	ENST00000535822	Transcript	missense_variant	1642/2341	1483/2004	495/667	I/V	Atc/Gtc		1		1	ZNF133	HGNC	HGNC:12917	protein_coding	YES	CCDS74703.1	ENSP00000439427		A0A0A0MTH2	UPI0004E4C963	NM_001283006.1,NM_001283007.1	tolerated(0.13)		3/3		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF119,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE		SNV	3			1										PASS		.	.												G	3	3	99	18316295	18316295	A	G	1	0	0	0	0	1	0	0	0	18304	217	8	5		5	ZNF133	20	18316295	Missense_Mutation	SNP	A	C3N-02423_TP	8894839	18316295	46127872	432	31351											
SYNDIG1	0	.	GRCh38	chr20	24543289	24543289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccggccagcctggacagCagcaggagtgagccgatgca	9	4	16	12	2	0	1	0	1	0	0	0	4	0	3	4	3	6	3	4	3	0	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.192C>A	p.Ser64Arg	p.S64R	ENST00000376862	2/4	166	117	49	197	197	0	strelka-varscan-mutect	SYNDIG1,missense_variant,p.Ser64Arg,ENST00000376862,NM_024893.2;	A	ENST00000376862	Transcript	missense_variant	825/2522	192/777	64/258	S/R	agC/agA		1		1	SYNDIG1	HGNC	HGNC:15885	protein_coding	YES	CCDS13164.1	ENSP00000366058	Q9H7V2		UPI00001285DC	NM_024893.2	tolerated(0.48)		2/4		hmmpanther:PTHR14768,hmmpanther:PTHR14768:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	24543289	24543289	C	A	1	0	0	0	0	1	0	0	0	15835	709	25	2		2	SYNDIG1	20	24543289	Missense_Mutation	SNP	C	C3N-02423_TP	6226994	24543289	39900878	433	31352											
NINL	0	.	GRCh38	chr20	25476213	25476213	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccctgcgggtctgcgagctgGaggtgggatggcaaggaccc	6	6	18	11	2	1	0	0	0	1	0	1	4	1	3	2	6	3	2	2	6	1	0			C3N-02423_TP	C3N-02423_NB	G	G																c.3078C>G	p.=	p.L1026L	ENST00000278886	17/24	208	197	11	224	224	0	strelka-varscan-mutect	NINL,synonymous_variant,p.=,ENST00000278886,NM_025176.4;NINL,intron_variant,,ENST00000422516,NM_001318226.1;NINL,intron_variant,,ENST00000336104,;	C	ENST00000278886	Transcript	synonymous_variant	3152/4969	3078/4149	1026/1382	L	ctC/ctG	COSM5535408	1		-1	NINL	HGNC	HGNC:29163	protein_coding	YES	CCDS33452.1	ENSP00000278886	Q9Y2I6		UPI0000206B64	NM_025176.4			17/24		hmmpanther:PTHR18905:SF12,hmmpanther:PTHR18905											1						LOW	1	SNV	1		1	1										PASS		.	.												C	2	2	99	25476213	25476213	G	C	1	0	0	0	0	0	0	0	1	10455	1161	41	4		4	NINL	20	25476213	Silent	SNP	G	C3N-02423_TP	932924	25476213	38967954	434	31353											
REM1	0	.	GRCh38	chr20	31476658	31476658	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattggtcttctgaatccagCgactctgaaggctcctggga	8	11	12	10	1	3	2	0	2	3	0	5	5	5	3	2	3	1	1	2	3	2	2	rs759705636		C3N-02423_TP	C3N-02423_NB	C	C																c.213C>T	p.=	p.S71S	ENST00000201979	2/5	287	271	16	344	344	0	strelka-varscan-mutect	REM1,synonymous_variant,p.=,ENST00000201979,NM_014012.5;DEFB124,upstream_gene_variant,,ENST00000317676,NM_001037500.1;DEFB124,non_coding_transcript_exon_variant,,ENST00000481595,;	T	ENST00000201979	Transcript	synonymous_variant	506/1665	213/897	71/298	S	agC/agT	rs759705636,COSM121730,COSM5694772	1		1	REM1	HGNC	HGNC:15922	protein_coding	YES	CCDS13181.1	ENSP00000201979	O75628		UPI0000073CEB	NM_014012.5			2/5		PIRSF_domain:PIRSF038017,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF260,Low_complexity_(Seg):seg											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs759705636	.												T	2	4	99	31476658	31476658	C	T	1	0	0	0	0	0	0	0	1	13392	767	27	1		1	REM1	20	31476658	Silent	SNP	C	C3N-02423_TP	6000445	31476658	32967509	435	31354											
SPAG4	0	.	GRCh38	chr20	35616232	35616232	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacatgggcaggaagctctCagcagaagccagcgcctcgg	10	4	13	14	2	1	1	1	0	1	1	3	2	1	2	3	3	4	3	3	3	2	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.229C>T	p.Gln77Ter	p.Q77*	ENST00000374273	1/12	80	71	9	57	57	0	strelka-varscan-mutect	SPAG4,stop_gained,p.Gln77Ter,ENST00000374273,NM_001317931.1,NM_003116.1;SPAG4,upstream_gene_variant,,ENST00000454819,;SPAG4,upstream_gene_variant,,ENST00000430878,;SPAG4,upstream_gene_variant,,ENST00000462896,;SPAG4,upstream_gene_variant,,ENST00000468248,;SPAG4,upstream_gene_variant,,ENST00000463973,;SPAG4,upstream_gene_variant,,ENST00000498203,;	T	ENST00000374273	Transcript	stop_gained	341/1453	229/1314	77/437	Q/*	Cag/Tag		1		1	SPAG4	HGNC	HGNC:11214	protein_coding	YES	CCDS13259.1	ENSP00000363391	Q9NPE6		UPI0000135D8F	NM_001317931.1,NM_003116.1			1/12		hmmpanther:PTHR12911,hmmpanther:PTHR12911:SF16																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	99	35616232	35616232	C	T	1	0	0	0	0	0	1	0	0	15311	827	29	3		3	SPAG4	20	35616232	Nonsense_Mutation	SNP	C	C3N-02423_TP	4139574	35616232	28827935	436	31355											
RPRD1B	0	.	GRCh38	chr20	38057554	38057554	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagaagagaagaaatctctGaaacgaacttttcagcaaat	19	8	7	7	1	2	4	1	1	1	3	3	6	2	4	0	0	3	1	0	0	6	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.438G>C	p.=	p.L146L	ENST00000373433	4/7	160	147	13	173	173	0	strelka-varscan-mutect	RPRD1B,synonymous_variant,p.=,ENST00000373433,NM_021215.3;RPRD1B,synonymous_variant,p.=,ENST00000449186,;RPRD1B,missense_variant,p.Glu102Gln,ENST00000495457,;RPRD1B,3_prime_UTR_variant,,ENST00000462548,;	C	ENST00000373433	Transcript	synonymous_variant	840/3874	438/981	146/326	L	ctG/ctC		1		1	RPRD1B	HGNC	HGNC:16209	protein_coding	YES	CCDS13301.1	ENSP00000362532	Q9NQG5		UPI00001285EB	NM_021215.3			4/7		hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF3																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	99	38057554	38057554	G	C	1	0	0	0	0	0	0	0	1	13870	1277	45	4		4	RPRD1B	20	38057554	Silent	SNP	G	C3N-02423_TP	2441322	38057554	26386613	437	31356											
KCNK15	0	.	GRCh38	chr20	44750619	44750619	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactggcccgagcgcgctgcCcgcacccccagcccgcgccc	4	2	12	23	6	0	0	0	0	0	0	0	2	0	0	6	1	3	2	6	1	0	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.774C>A	p.=	p.A258A	ENST00000372861	2/2	115	78	37	178	177	1	strelka-varscan-mutect	KCNK15,synonymous_variant,p.=,ENST00000372861,NM_022358.3;RIMS4,downstream_gene_variant,,ENST00000372851,NM_182970.3;RP4-781B1.5,downstream_gene_variant,,ENST00000611368,;KCNK15-AS1,upstream_gene_variant,,ENST00000427303,;KCNK15-AS1,upstream_gene_variant,,ENST00000445420,;	A	ENST00000372861	Transcript	synonymous_variant	905/2599	774/993	258/330	A	gcC/gcA		1		1	KCNK15	HGNC	HGNC:13814	protein_coding	YES	CCDS13337.1	ENSP00000361952	Q9H427		UPI000003EA1C	NM_022358.3			2/2		hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF18,PIRSF_domain:PIRSF038061,Prints_domain:PR01690																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	99	44750619	44750619	C	A	1	0	0	0	0	0	0	0	1	7979	610	22	2		2	KCNK15	20	44750619	Silent	SNP	C	C3N-02423_TP	6693065	44750619	19693548	438	31357											
PTGIS	0	.	GRCh38	chr20	49539620	49539620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagccggtcgagctggCgaaaggtgtggaagacatca	11	5	17	8	3	1	1	1	0	0	1	2	5	1	3	1	5	3	2	1	5	2	0	rs145802460		C3N-02423_TP	C3N-02423_NB	C	C																c.623G>T	p.Arg208Leu	p.R208L	ENST00000244043	5/10	236	216	20	255	254	1	strelka-varscan-mutect	PTGIS,missense_variant,p.Arg208Leu,ENST00000244043,NM_000961.3;PTGIS,non_coding_transcript_exon_variant,,ENST00000478971,;	A	ENST00000244043	Transcript	missense_variant	653/5579	623/1503	208/500	R/L	cGc/cTc	rs145802460,COSM189985	1		-1	PTGIS	HGNC	HGNC:9603	protein_coding	YES	CCDS13419.1	ENSP00000244043	Q16647		UPI00001328DF	NM_000961.3	deleterious(0.03)		5/10		hmmpanther:PTHR24306,hmmpanther:PTHR24306:SF4,PIRSF_domain:PIRSF500628,PIRSF_domain:PIRSF000047,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs145802460	.												A	3	1	99	49539620	49539620	C	A	1	0	0	0	0	1	0	0	0	12908	768	27	1		1	PTGIS	20	49539620	Missense_Mutation	SNP	C	C3N-02423_TP	4789001	49539620	14904547	439	31358											
BMP7	0	.	GRCh38	chr20	57174993	57174993	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacaggcctgcctctggtCgctgctgctgttctctgcat	3	14	10	14	1	2	0	0	0	2	0	4	0	2	0	2	2	5	5	2	2	1	2	rs200825690		C3N-02423_TP	C3N-02423_NB	C	C																c.973G>T	p.Asp325Tyr	p.D325Y	ENST00000395863	5/7	634	455	179	606	605	1	strelka-varscan-mutect	BMP7,missense_variant,p.Asp325Tyr,ENST00000395863,NM_001719.2;BMP7,missense_variant,p.Asp325Tyr,ENST00000450594,;BMP7,missense_variant,p.Asp259Tyr,ENST00000395864,;BMP7,missense_variant,p.Asp247Tyr,ENST00000433911,;BMP7,non_coding_transcript_exon_variant,,ENST00000460817,;BMP7,downstream_gene_variant,,ENST00000463939,;BMP7,upstream_gene_variant,,ENST00000476877,;	A	ENST00000395863	Transcript	missense_variant	1479/4013	973/1296	325/431	D/Y	Gac/Tac	rs200825690,COSM1713710	1		-1	BMP7	HGNC	HGNC:1074	protein_coding	YES	CCDS13455.1	ENSP00000379204	P18075	A8K571	UPI00000349AD	NM_001719.2	deleterious(0.01)		5/7		Gene3D:2.10.90.10,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135,Superfamily_domains:SSF57501											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs200825690	.												A	3	1	99	57174993	57174993	C	A	1	0	0	0	0	1	0	0	0	1620	884	31	1		1	BMP7	20	57174993	Missense_Mutation	SNP	C	C3N-02423_TP	7635373	57174993	7269174	440	31359											
RBBP8NL	0	.	GRCh38	chr20	62416808	62416808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggtgggagctctcgaactCctgctgccgcttcctggcca	5	9	12	15	2	1	0	0	0	1	0	4	2	3	1	4	3	4	3	4	3	1	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.265G>A	p.Glu89Lys	p.E89K	ENST00000252998	5/14	156	147	9	156	156	0	strelka-varscan-mutect	RBBP8NL,missense_variant,p.Glu89Lys,ENST00000252998,NM_080833.2;	T	ENST00000252998	Transcript	missense_variant	422/2793	265/1995	89/664	E/K	Gag/Aag		1		-1	RBBP8NL	HGNC	HGNC:16144	protein_coding	YES	CCDS13498.1	ENSP00000252998	Q8NC74		UPI000013CDA2	NM_080833.2	deleterious(0)		5/14		Pfam_domain:PF10482,hmmpanther:PTHR15107,hmmpanther:PTHR15107:SF3																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	99	62416808	62416808	C	T	1	0	0	0	0	1	0	0	0	13267	864	30	3		3	RBBP8NL	20	62416808	Missense_Mutation	SNP	C	C3N-02423_TP	5241815	62416808	2027359	441	31360											
YTHDF1	0	.	GRCh38	chr20	63202579	63202579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtgccgtagtccacggggGacttcatctcggccacccca	6	8	12	15	3	2	0	1	0	1	0	4	1	3	1	5	4	1	1	5	4	1	2	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1361C>T	p.Ser454Phe	p.S454F	ENST00000370339	4/5	226	208	18	282	282	0	strelka-varscan-mutect	YTHDF1,missense_variant,p.Ser454Phe,ENST00000370339,NM_017798.3;YTHDF1,intron_variant,,ENST00000370334,;	A	ENST00000370339	Transcript	missense_variant	1703/3301	1361/1680	454/559	S/F	tCc/tTc		1		-1	YTHDF1	HGNC	HGNC:15867	protein_coding	YES	CCDS13511.1	ENSP00000359364	Q9BYJ9		UPI0000128DD9	NM_017798.3	deleterious(0)		4/5		PROSITE_profiles:PS50882,hmmpanther:PTHR12357,hmmpanther:PTHR12357:SF20,Pfam_domain:PF04146																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	63202579	63202579	G	A	1	0	0	0	0	1	0	0	0	18059	1174	41	3		3	YTHDF1	20	63202579	Missense_Mutation	SNP	G	C3N-02423_TP	785771	63202579	1241588	442	31361											
HELZ2	0	.	GRCh38	chr20	63567187	63567187	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcgtgagtctcctgctggTagcacaggaagaggcggtgc	7	8	15	11	2	1	2	0	1	1	1	3	3	1	3	2	4	3	3	2	4	2	1	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.2171A>G	p.Tyr724Cys	p.Y724C	ENST00000467148	6/19	394	297	97	361	360	1	strelka-varscan-mutect	HELZ2,missense_variant,p.Tyr724Cys,ENST00000467148,NM_001037335.2;HELZ2,missense_variant,p.Tyr155Cys,ENST00000427522,NM_033405.3;HELZ2,downstream_gene_variant,,ENST00000479540,;HELZ2,downstream_gene_variant,,ENST00000454223,;HELZ2,downstream_gene_variant,,ENST00000370082,;	C	ENST00000467148	Transcript	missense_variant	2241/8064	2171/7950	724/2649	Y/C	tAc/tGc		1		-1	HELZ2	HGNC	HGNC:30021	protein_coding	YES	CCDS33508.1	ENSP00000417401	Q9BYK8		UPI0000246BF7	NM_001037335.2	deleterious(0)		6/19		Gene3D:3.40.50.300,Pfam_domain:PF13087,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	63567187	63567187	T	C	1	0	0	0	0	1	0	0	0	6932	1638	57	5		5	HELZ2	20	63567187	Missense_Mutation	SNP	T	C3N-02423_TP	364608	63567187	876980	443	31362											
C21orf91	0	.	GRCh38	chr21	17795236	17795236	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgtaggagctttgcattCagttgctctacctcaccaag	8	13	9	11	0	3	0	2	0	1	0	3	1	3	1	2	1	5	6	2	1	3	5	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.699G>C	p.=	p.L233L	ENST00000284881	4/5	279	261	18	350	350	0	strelka-varscan-mutect	C21orf91,synonymous_variant,p.=,ENST00000284881,NM_001100420.1;C21orf91,synonymous_variant,p.=,ENST00000400559,NM_017447.3;C21orf91,synonymous_variant,p.=,ENST00000405964,;C21orf91,intron_variant,,ENST00000400558,NM_001100421.1;C21orf91-OT1,upstream_gene_variant,,ENST00000430815,;C21orf91-OT1,upstream_gene_variant,,ENST00000439392,;C21orf91-OT1,upstream_gene_variant,,ENST00000430401,;AL109761.5,intron_variant,,ENST00000428689,;C21orf91,downstream_gene_variant,,ENST00000493464,;	G	ENST00000284881	Transcript	synonymous_variant	790/5433	699/894	233/297	L	ctG/ctC		1		-1	C21orf91	HGNC	HGNC:16459	protein_coding	YES	CCDS42907.1	ENSP00000284881	Q9NYK6		UPI000004A0E1	NM_001100420.1			4/5		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06937,hmmpanther:PTHR15961																	LOW	1	SNV	2			1										PASS		.	.												G	2	3	99	17795236	17795236	C	G	1	0	0	0	0	0	0	0	1	2016	813	29	4		4	C21orf91	21	17795236	Silent	SNP	C	C3N-02423_TP		17795236	28914747	444	31363											
SCAF4	0	.	GRCh38	chr21	31671751	31671751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctcctccttccccactctCtcctgtcacggttactatta	5	14	5	17	1	2	0	1	0	1	0	7	0	6	0	5	2	1	2	5	2	3	4			C3N-02423_TP	C3N-02423_NB	C	C																c.3092G>A	p.Arg1031Lys	p.R1031K	ENST00000286835	20/20	200	187	13	243	243	0	strelka-varscan-mutect	SCAF4,missense_variant,p.Arg1031Lys,ENST00000286835,NM_020706.2;SCAF4,missense_variant,p.Arg1009Lys,ENST00000399804,NM_001145445.1;SCAF4,missense_variant,p.Arg1016Lys,ENST00000434667,NM_001145444.1;SOD1,downstream_gene_variant,,ENST00000270142,NM_000454.4;SOD1,downstream_gene_variant,,ENST00000389995,;AP000254.8,upstream_gene_variant,,ENST00000609934,;SOD1,downstream_gene_variant,,ENST00000470944,;SOD1,downstream_gene_variant,,ENST00000476106,;	T	ENST00000286835	Transcript	missense_variant	3475/4193	3092/3444	1031/1147	R/K	aGa/aAa	COSM4101209	1		-1	SCAF4	HGNC	HGNC:19304	protein_coding	YES	CCDS33537.1	ENSP00000286835	O95104		UPI0000206D66	NM_020706.2	deleterious_low_confidence(0.01)		20/20		Low_complexity_(Seg):seg											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	99	31671751	31671751	C	T	1	0	0	0	0	1	0	0	0	14134	913	32	3		3	SCAF4	21	31671751	Missense_Mutation	SNP	C	C3N-02423_TP	13876515	31671751	15038232	445	31364											
TTC3	0	.	GRCh38	chr21	37091414	37091414	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtattttctttactgaatGtaagtataaatgctttaaat	15	18	5	3	0	1	1	0	1	1	0	1	1	1	1	0	0	2	4	0	0	10	10	rs762013648		C3N-02423_TP	C3N-02423_NB	G	G																c.601+1G>T		p.X201_splice	ENST00000399017		121	114	7	170	170	0	varscan-mutect	TTC3,splice_donor_variant,,ENST00000399017,NM_003316.3;TTC3,splice_donor_variant,,ENST00000354749,;TTC3,splice_donor_variant,,ENST00000355666,NM_001001894.1;TTC3,splice_donor_variant,,ENST00000418766,;TTC3,splice_donor_variant,,ENST00000438055,;TTC3,splice_donor_variant,,ENST00000450533,;TTC3,splice_donor_variant,,ENST00000399010,;TTC3,intron_variant,,ENST00000540756,;TTC3,splice_donor_variant,,ENST00000479930,;TTC3,splice_donor_variant,,ENST00000485402,;TTC3,splice_donor_variant,,ENST00000491952,;TTC3,non_coding_transcript_exon_variant,,ENST00000484047,;TTC3,intron_variant,,ENST00000481605,;TTC3,intron_variant,,ENST00000494243,;TTC3,intron_variant,,ENST00000463216,;TTC3,intron_variant,,ENST00000492275,;TTC3,splice_donor_variant,,ENST00000460328,;	T	ENST00000399017	Transcript	splice_donor_variant	-/10363	601/6078	201/2025			rs762013648	1		1	TTC3	HGNC	HGNC:12393	protein_coding	YES	CCDS13651.1	ENSP00000381981	P53804		UPI00001B043E	NM_003316.3				7/45																		HIGH	1	SNV	1			1										PASS		rs762013648	.												T	5	4	99	37091414	37091414	G	T	1	0	0	0	0	0	0	1	0	17206	1391	48	2		2	TTC3	21	37091414	Splice_Site	SNP	G	C3N-02423_TP	5419663	37091414	9618569	446	31365											
COL6A2	0	.	GRCh38	chr21	46116669	46116669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtgaatttggagccgacGgtcgcaaggtaggctggctg	8	8	18	7	3	0	1	0	1	0	0	1	3	0	2	1	6	1	4	1	6	3	2	rs762882543		C3N-02423_TP	C3N-02423_NB	G	G																c.946G>T	p.Gly316Cys	p.G316C	ENST00000300527	9/28	410	381	29	494	494	0	strelka-varscan-mutect	COL6A2,missense_variant,p.Gly316Cys,ENST00000300527,NM_001849.3;COL6A2,missense_variant,p.Gly316Cys,ENST00000310645,NM_058175.2;COL6A2,missense_variant,p.Gly316Cys,ENST00000409416,;COL6A2,missense_variant,p.Gly316Cys,ENST00000397763,NM_058174.2;COL6A2,downstream_gene_variant,,ENST00000436769,;COL6A2,upstream_gene_variant,,ENST00000413758,;COL6A2,downstream_gene_variant,,ENST00000460886,;COL6A2,non_coding_transcript_exon_variant,,ENST00000485591,;	T	ENST00000300527	Transcript	missense_variant	1050/3461	946/3060	316/1019	G/C	Ggt/Tgt	rs762882543	1		1	COL6A2	HGNC	HGNC:2212	protein_coding	YES	CCDS13728.1	ENSP00000300527	P12110		UPI00001AECE0	NM_001849.3	deleterious(0)		9/28		hmmpanther:PTHR24023:SF119,hmmpanther:PTHR24023,Pfam_domain:PF01391,Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		rs762882543	.												T	3	4	99	46116669	46116669	G	T	1	0	0	0	0	1	0	0	0	3489	1116	39	1		1	COL6A2	21	46116669	Missense_Mutation	SNP	G	C3N-02423_TP	9025255	46116669	593314	447	31366											
OR11H1	0	.	GRCh38	chr22	15528574	15528574	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggcctttgatcagtaccTtgctatctgccgtcccttgc	5	14	9	13	1	2	1	1	1	1	0	3	2	3	1	4	1	4	2	4	1	2	5	novel		C3N-02423_TP	C3N-02423_NB	T	T																c.416T>A	p.Leu139His	p.L139H	ENST00000252835	1/1	107	98	9	131	131	0	varscan-mutect	OR11H1,missense_variant,p.Leu139His,ENST00000252835,NM_001005239.1;	A	ENST00000252835	Transcript	missense_variant	417/982	416/981	139/326	L/H	cTt/cAt		1		1	OR11H1	HGNC	HGNC:15404	protein_coding	YES	CCDS74807.1	ENSP00000252835	Q8NG94		UPI000004B1CF	NM_001005239.1	deleterious(0)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF201,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	99	15528574	15528574	T	A	1	0	0	0	0	1	0	0	0	11002	1609	56	4		4	OR11H1	22	15528574	Missense_Mutation	SNP	T	C3N-02423_TP		15528574	35289894	448	31367											
IL17RA	0	.	GRCh38	chr22	17108527	17108546	+	Frame_Shift_Del	DEL	GGTGGAGAGCAACTCTAAGA	GGTGGAGAGCAACTCTAAGA	-																															ggccgtcagaagcaggagatGgtggagagcaactctaagat																								novel		C3N-02423_TP	C3N-02423_NB	GGTGGAGAGCAACTCTAAGA	GGTGGAGAGCAACTCTAAGA																c.1308_1327delGGTGGAGAGCAACTCTAAGA	p.Met436IlefsTer68	p.M436Ifs*68	ENST00000319363	13/13	463	436	27	577	577	0	sindel-pindel	IL17RA,frameshift_variant,p.Met436IlefsTer68,ENST00000319363,NM_014339.6;IL17RA,frameshift_variant,p.Met402IlefsTer68,ENST00000612619,NM_001289905.1;	-	ENST00000319363	Transcript	frameshift_variant	1441-1460/8607	1308-1327/2601	436-443/866	MVESNSKI/IX	atGGTGGAGAGCAACTCTAAGAtc/attc		1		1	IL17RA	HGNC	HGNC:5985	protein_coding	YES	CCDS13739.1	ENSP00000320936	Q96F46		UPI000005031F	NM_014339.6			13/13		Pfam_domain:PF08357,PROSITE_profiles:PS51534,hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF13																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	99	17108527	17108527	GGTGGAGAGCAACTCTAAGA	-	1	0	1	0	1	0	0	0	0	7547	1348	47	0		0	IL17RA	22	17108527	Frame_Shift_Del	DEL	GGTGGAGAGCAACTCTAAGA	C3N-02423_TP	1579953	17108527	33709941	449	31368											
TXNRD2	0	.	GRCh38	chr22	19895545	19895545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggaaccgggtgccatGagatgccatgtgctctatga	9	9	12	11	1	2	2	1	2	1	1	2	4	2	3	4	2	4	1	4	2	2	1	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.811C>A	p.His271Asn	p.H271N	ENST00000400521	11/18	289	258	31	315	315	0	strelka-varscan-mutect	TXNRD2,missense_variant,p.His270Asn,ENST00000400519,;TXNRD2,missense_variant,p.His239Asn,ENST00000491939,;TXNRD2,missense_variant,p.His271Asn,ENST00000400521,NM_006440.4;TXNRD2,missense_variant,p.His241Asn,ENST00000400518,;TXNRD2,missense_variant,p.His175Asn,ENST00000542719,;TXNRD2,missense_variant,p.His271Asn,ENST00000334363,NM_001282512.1;TXNRD2,missense_variant,p.His248Asn,ENST00000400525,;TXNRD2,missense_variant,p.His104Asn,ENST00000475995,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000635155,;TXNRD2,missense_variant,p.His252Asn,ENST00000474308,;TXNRD2,missense_variant,p.His14Asn,ENST00000634537,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000494454,;	T	ENST00000400521	Transcript	missense_variant	1000/2115	811/1575	271/524	H/N	Cat/Aat		1		-1	TXNRD2	HGNC	HGNC:18155	protein_coding	YES	CCDS42981.1	ENSP00000383365	Q9NNW7		UPI0000167BDD	NM_006440.4	deleterious(0.04)		11/18		Gene3D:3.50.50.60,Pfam_domain:PF07992,PIRSF_domain:PIRSF000350,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF182,Superfamily_domains:SSF51905,TIGRFAM_domain:TIGR01438																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	99	19895545	19895545	G	T	1	0	0	0	0	1	0	0	0	17322	1290	45	2		2	TXNRD2	22	19895545	Missense_Mutation	SNP	G	C3N-02423_TP	2787018	19895545	30922923	450	31369											
SPECC1L	0	.	GRCh38	chr22	24334453	24334453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatacaattacatgaatgccGttgagagagatttggcagcc	13	11	10	7	1	0	3	0	2	0	2	0	5	0	3	2	1	4	2	2	1	5	5	rs139167350		C3N-02423_TP	C3N-02423_NB	G	G																c.2440G>T	p.Val814Phe	p.V814F	ENST00000314328	9/17	447	415	32	483	483	0	strelka-varscan-mutect	SPECC1L,missense_variant,p.Val814Phe,ENST00000314328,NM_015330.4;SPECC1L,missense_variant,p.Val814Phe,ENST00000437398,NM_001145468.3;SPECC1L,missense_variant,p.Val814Phe,ENST00000541492,NM_001254732.2;SPECC1L,downstream_gene_variant,,ENST00000421374,;SPECC1L-ADORA2A,missense_variant,p.Val814Phe,ENST00000358654,;	T	ENST00000314328	Transcript	missense_variant	2725/6756	2440/3354	814/1117	V/F	Gtt/Ttt	rs139167350	1		1	SPECC1L	HGNC	HGNC:29022	protein_coding	YES	CCDS33619.1	ENSP00000325785	Q69YQ0		UPI0004620B3B	NM_015330.4	deleterious(0.01)		9/17		hmmpanther:PTHR23167,hmmpanther:PTHR23167:SF18																	MODERATE	1	SNV	1			1										PASS		rs139167350	.												T	3	4	99	24334453	24334453	G	T	1	0	0	0	0	1	0	0	0	15384	1145	40	1		1	SPECC1L	22	24334453	Missense_Mutation	SNP	G	C3N-02423_TP	4438908	24334453	26484015	451	31370											
MYO18B	0	.	GRCh38	chr22	25785488	25785488	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcatgggcgtgtggtcCaaggtaaggaggaggtccct	7	10	17	7	1	0	0	0	0	0	0	2	2	2	2	2	7	0	2	2	7	2	2			C3N-02423_TP	C3N-02423_NB	C	C																c.2373C>A	p.=	p.S791S	ENST00000335473	11/44	207	196	11	224	223	1	strelka-varscan-mutect	MYO18B,synonymous_variant,p.=,ENST00000335473,NM_001318245.1,NM_032608.5;MYO18B,synonymous_variant,p.=,ENST00000407587,;MYO18B,synonymous_variant,p.=,ENST00000536101,;MYO18B,synonymous_variant,p.=,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;	A	ENST00000335473	Transcript	synonymous_variant	2623/8565	2373/7704	791/2567	S	tcC/tcA	COSM5393303	1		1	MYO18B	HGNC	HGNC:18150	protein_coding	YES	CCDS54507.1	ENSP00000334563		A0A075B6F5	UPI0000207402	NM_001318245.1,NM_032608.5			11/44		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF372,SMART_domains:SM00242,Superfamily_domains:SSF52540											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	99	25785488	25785488	C	A	1	0	0	0	0	0	0	0	1	10067	608	21	2		2	MYO18B	22	25785488	Silent	SNP	C	C3N-02423_TP	1451035	25785488	25032980	452	31371											
POLR2F	0	.	GRCh38	chr22	37986177	37986177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgctcggcctcagaaccgcCcggagaggagccgccctgga	7	3	14	17	5	1	2	1	0	0	2	2	5	1	4	6	4	2	1	6	4	1	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.317C>T	p.Pro106Leu	p.P106L	ENST00000407936	5/6	93	82	11	126	126	0	strelka-varscan-mutect	POLR2F,missense_variant,p.Pro106Leu,ENST00000407936,NM_001301130.1,NM_001301131.1;SOX10,intron_variant,,ENST00000360880,;POLR2F,intron_variant,,ENST00000405557,;SOX10,upstream_gene_variant,,ENST00000396884,NM_006941.3;SOX10,upstream_gene_variant,,ENST00000446929,;POLR2F,upstream_gene_variant,,ENST00000427034,;SOX10,upstream_gene_variant,,ENST00000427770,;POLR2F,upstream_gene_variant,,ENST00000333418,;MIR6820,upstream_gene_variant,,ENST00000578108,;MIR6820,non_coding_transcript_exon_variant,,ENST00000623111,;SOX10,upstream_gene_variant,,ENST00000470555,;POLR2F,3_prime_UTR_variant,,ENST00000443002,;	T	ENST00000407936	Transcript	missense_variant	408/582	317/477	106/158	P/L	cCc/cTc		1		1	POLR2F	HGNC	HGNC:9193	protein_coding	YES	CCDS77673.1	ENSP00000385725		B0QYL9	UPI000161112B	NM_001301130.1,NM_001301131.1	deleterious_low_confidence(0)		5/6																			MODERATE		SNV	3			1										PASS		.	.												T	3	4	99	37986177	37986177	C	T	1	0	0	0	0	1	0	0	0	12329	623	22	3		3	POLR2F	22	37986177	Missense_Mutation	SNP	C	C3N-02423_TP	12200689	37986177	12832291	453	31372											
EP300	0	.	GRCh38	chr22	41158415	41158415	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatggtttcttttgcagttgGagttctctccacagacactg	8	15	9	9	0	2	1	0	0	2	1	4	2	3	2	1	2	1	4	1	2	1	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.3505G>T	p.Glu1169Ter	p.E1169*	ENST00000263253	19/31	451	427	24	475	475	0	strelka-varscan-mutect	EP300,stop_gained,p.Glu1169Ter,ENST00000263253,NM_001429.3;EP300,upstream_gene_variant,,ENST00000635584,;EP300,non_coding_transcript_exon_variant,,ENST00000635691,;EP300,upstream_gene_variant,,ENST00000635552,;	T	ENST00000263253	Transcript	stop_gained	4724/9587	3505/7245	1169/2414	E/*	Gag/Tag		1		1	EP300	HGNC	HGNC:3373	protein_coding	YES	CCDS14010.1	ENSP00000263253	Q09472		UPI00001AE876	NM_001429.3			19/31		hmmpanther:PTHR13808:SF4,hmmpanther:PTHR13808,Pfam_domain:PF06001																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	99	41158415	41158415	G	T	1	0	0	0	0	0	1	0	0	4994	1188	41	2		2	EP300	22	41158415	Nonsense_Mutation	SNP	G	C3N-02423_TP	3172238	41158415	9660053	454	31373											
GTSE1	0	.	GRCh38	chr22	46326587	46326587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaacgatgcccagggccGtgggctctcccctgtgtgtg	6	8	13	14	2	1	0	0	0	1	0	2	1	1	0	5	2	2	1	5	2	2	0	rs147391974		C3N-02423_TP	C3N-02423_NB	G	G																c.1657G>T	p.Val553Leu	p.V553L	ENST00000454366	9/12	210	194	16	191	191	0	strelka-varscan-mutect	GTSE1,missense_variant,p.Val553Leu,ENST00000454366,NM_016426.6;TRMU,upstream_gene_variant,,ENST00000476901,;TRMU,upstream_gene_variant,,ENST00000486620,;GTSE1,non_coding_transcript_exon_variant,,ENST00000466510,;GTSE1,non_coding_transcript_exon_variant,,ENST00000479645,;GTSE1,upstream_gene_variant,,ENST00000491863,;	T	ENST00000454366	Transcript	missense_variant	1869/3112	1657/2220	553/739	V/L	Gtg/Ttg	rs147391974	1		1	GTSE1	HGNC	HGNC:13698	protein_coding	YES	CCDS14074.2	ENSP00000415430	Q9NYZ3		UPI000021D19B	NM_016426.6	tolerated(1)		9/12		hmmpanther:PTHR21584,hmmpanther:PTHR21584:SF10																	MODERATE	1	SNV	1			1										PASS		rs147391974	.												T	3	4	99	46326587	46326587	G	T	1	0	0	0	0	1	0	0	0	6766	1145	40	1		1	GTSE1	22	46326587	Missense_Mutation	SNP	G	C3N-02423_TP	5168172	46326587	4491881	455	31374											
ARSD	0	.	GRCh38	chrX	2925730	2925730	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggttcacacgtcttcagaAgcaagcataaaaacagtagc	16	8	8	9	1	3	1	2	0	1	1	3	1	3	1	0	1	4	4	0	1	7	5	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.80T>G	p.Leu27Arg	p.L27R	ENST00000381154	2/10	112	71	41	127	127	0	strelka-varscan-mutect	ARSD,missense_variant,p.Leu27Arg,ENST00000381154,NM_001669.3;ARSD,non_coding_transcript_exon_variant,,ENST00000217890,;ARSD,intron_variant,,ENST00000495294,;ARSD,missense_variant,p.Leu27Arg,ENST00000559324,;ARSD,non_coding_transcript_exon_variant,,ENST00000494870,;	C	ENST00000381154	Transcript	missense_variant	156/5159	80/1782	27/593	L/R	cTt/cGt		1		-1	ARSD	HGNC	HGNC:717	protein_coding	YES	CCDS35196.1	ENSP00000370546	P51689	A0A140VK06	UPI0000070902	NM_001669.3	tolerated(0.07)		2/10		hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF216,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	99	2925730	2925730	A	C	1	0	0	0	0	1	0	0	0	1132	72	3	5		5	ARSD	23	2925730	Missense_Mutation	SNP	A	C3N-02423_TP		2925730	153115165	456	31375											
NLGN4X	0	.	GRCh38	chrX	5893167	5893167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtctcatggcgcctcttgtCctttttgtagtacagcgccg	5	14	10	12	3	2	0	1	0	2	0	4	0	3	0	3	1	2	2	3	1	2	5	rs766889075		C3N-02423_TP	C3N-02423_NB	C	C																c.2101G>T	p.Asp701Tyr	p.D701Y	ENST00000381095	6/6	220	157	63	221	220	1	strelka-varscan-mutect	NLGN4X,missense_variant,p.Asp701Tyr,ENST00000381095,NM_181332.2,NM_001282145.1;NLGN4X,missense_variant,p.Asp701Tyr,ENST00000381093,NM_001282146.1;NLGN4X,missense_variant,p.Asp701Tyr,ENST00000275857,NM_020742.3;NLGN4X,missense_variant,p.Asp701Tyr,ENST00000381092,;NLGN4X,missense_variant,p.Asp702Tyr,ENST00000538097,;NLGN4X,intron_variant,,ENST00000477079,;	A	ENST00000381095	Transcript	missense_variant	2729/5870	2101/2451	701/816	D/Y	Gac/Tac	rs766889075,COSM4861124,COSM757941	1		-1	NLGN4X	HGNC	HGNC:14287	protein_coding	YES	CCDS14126.1	ENSP00000370485	Q8N0W4	A0A024RBV0	UPI0000072EC5	NM_181332.2,NM_001282145.1	deleterious(0)		6/6													0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs766889075	.												A	3	1	99	5893167	5893167	C	A	1	0	0	0	0	1	0	0	0	10501	855	30	2		2	NLGN4X	23	5893167	Missense_Mutation	SNP	C	C3N-02423_TP	2967437	5893167	150147728	457	31376											
NLGN4X	0	.	GRCh38	chrX	5893290	5893290	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaatgaggacagttgtgtCctcaggccctgttttgtgag	7	14	12	8	0	2	2	2	2	0	0	3	3	3	3	2	2	0	2	2	2	1	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1978G>T	p.Asp660Tyr	p.D660Y	ENST00000381095	6/6	362	251	111	356	356	0	strelka-varscan-mutect	NLGN4X,missense_variant,p.Asp660Tyr,ENST00000381095,NM_181332.2,NM_001282145.1;NLGN4X,missense_variant,p.Asp660Tyr,ENST00000381093,NM_001282146.1;NLGN4X,missense_variant,p.Asp660Tyr,ENST00000275857,NM_020742.3;NLGN4X,missense_variant,p.Asp660Tyr,ENST00000381092,;NLGN4X,missense_variant,p.Asp661Tyr,ENST00000538097,;NLGN4X,intron_variant,,ENST00000477079,;	A	ENST00000381095	Transcript	missense_variant	2606/5870	1978/2451	660/816	D/Y	Gac/Tac		1		-1	NLGN4X	HGNC	HGNC:14287	protein_coding	YES	CCDS14126.1	ENSP00000370485	Q8N0W4	A0A024RBV0	UPI0000072EC5	NM_181332.2,NM_001282145.1	deleterious(0.01)		6/6																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	5893290	5893290	C	A	1	0	0	0	0	1	0	0	0	10501	855	30	2		2	NLGN4X	23	5893290	Missense_Mutation	SNP	C	C3N-02423_TP	123	5893290	150147605	458	31377											
NLGN4X	0	.	GRCh38	chrX	5903557	5903557	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacgaacttcaggccttccCcttggttgacgcccagcatg	7	9	9	16	2	1	1	1	1	0	0	2	2	2	1	5	2	2	2	5	2	1	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1121G>T	p.Gly374Val	p.G374V	ENST00000381095	5/6	141	100	41	140	140	0	strelka-varscan-mutect	NLGN4X,missense_variant,p.Gly374Val,ENST00000381095,NM_181332.2,NM_001282145.1;NLGN4X,missense_variant,p.Gly374Val,ENST00000381093,NM_001282146.1;NLGN4X,missense_variant,p.Gly374Val,ENST00000275857,NM_020742.3;NLGN4X,missense_variant,p.Gly374Val,ENST00000381092,;NLGN4X,missense_variant,p.Gly375Val,ENST00000538097,;NLGN4X,upstream_gene_variant,,ENST00000477079,;	A	ENST00000381095	Transcript	missense_variant	1749/5870	1121/2451	374/816	G/V	gGg/gTg		1		-1	NLGN4X	HGNC	HGNC:14287	protein_coding	YES	CCDS14126.1	ENSP00000370485	Q8N0W4	A0A024RBV0	UPI0000072EC5	NM_181332.2,NM_001282145.1	deleterious(0)		5/6		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF260,Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	99	5903557	5903557	C	A	1	0	0	0	0	1	0	0	0	10501	623	22	2		2	NLGN4X	23	5903557	Missense_Mutation	SNP	C	C3N-02423_TP	10267	5903557	150137338	459	31378											
REPS2	0	.	GRCh38	chrX	17022137	17022137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaagaattgcctctgcctCgctttatgatgtcaaagaat	12	12	7	10	1	2	3	1	1	1	2	3	3	2	3	3	0	2	1	3	0	5	3	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.412C>T	p.Arg138Cys	p.R138C	ENST00000357277	3/18	75	65	10	77	77	0	strelka-varscan-mutect	REPS2,missense_variant,p.Arg138Cys,ENST00000357277,NM_004726.2;REPS2,missense_variant,p.Arg138Cys,ENST00000303843,NM_001080975.1;REPS2,non_coding_transcript_exon_variant,,ENST00000481792,;	T	ENST00000357277	Transcript	missense_variant	583/7953	412/1983	138/660	R/C	Cgc/Tgc		1		1	REPS2	HGNC	HGNC:9963	protein_coding	YES	CCDS14180.2	ENSP00000349824	Q8NFH8		UPI00001BBB18	NM_004726.2	deleterious(0)		3/18		hmmpanther:PTHR11216:SF64,hmmpanther:PTHR11216,Gene3D:1.10.238.10																	MODERATE	1	SNV	1			1										PASS		rs949060639	.												T	3	4	99	17022137	17022137	C	T	1	0	0	0	0	1	0	0	0	13399	884	31	1		1	REPS2	23	17022137	Missense_Mutation	SNP	C	C3N-02423_TP	11118580	17022137	139018758	460	31379											
PDK3	0	.	GRCh38	chrX	24533983	24533983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttaataagtccgcatggCgccattacaagaccacgcct	11	11	7	12	3	0	1	0	0	0	1	1	1	1	1	4	1	1	1	4	1	4	5	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1132C>T	p.Arg378Cys	p.R378C	ENST00000441463	11/12	97	83	14	84	84	0	strelka-varscan-mutect	PDK3,missense_variant,p.Arg378Cys,ENST00000441463,NM_001142386.2;PDK3,missense_variant,p.Arg378Cys,ENST00000379162,NM_005391.4;	T	ENST00000441463	Transcript	missense_variant	1132/1921	1132/1248	378/415	R/C	Cgc/Tgc		1		1	PDK3	HGNC	HGNC:8811	protein_coding	YES	CCDS48088.1	ENSP00000387536	Q15120		UPI00002124D4	NM_001142386.2	deleterious(0)		11/12		hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF21																	MODERATE	1	SNV	2			1										PASS		rs1356075616	.												T	3	4	99	24533983	24533983	C	T	1	0	0	0	0	1	0	0	0	11765	768	27	1		1	PDK3	23	24533983	Missense_Mutation	SNP	C	C3N-02423_TP	7511846	24533983	131506912	461	31380											
MAGEB3	0	.	GRCh38	chrX	30236965	30236965	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctcttcccacgcctaGtgaagttgaagcaaattttg	11	11	9	10	1	1	2	0	2	1	0	2	2	2	2	2	0	3	4	2	0	4	5	novel		C3N-02423_TP	C3N-02423_NB	G	G																c.1041G>A	p.=	p.*347*	ENST00000361644	5/5	37	20	17	39	39	0	strelka-varscan-mutect	MAGEB3,stop_retained_variant,p.=,ENST00000361644,NM_002365.4;MAGEB3,stop_retained_variant,p.=,ENST00000620842,;	A	ENST00000361644	Transcript	stop_retained_variant	1778/2305	1041/1041	347/346	*	taG/taA		1		1	MAGEB3	HGNC	HGNC:6810	protein_coding	YES	CCDS14220.1	ENSP00000355198	O15480		UPI000013E79F	NM_002365.4			5/5																			LOW	1	SNV	2			1										PASS		.	.												A	2	1	99	30236965	30236965	G	A	1	0	0	0	0	0	0	0	1	9093	1024	36	3		3	MAGEB3	23	30236965	Silent	SNP	G	C3N-02423_TP	5702982	30236965	125803930	462	31381											
CYBB	0	.	GRCh38	chrX	37803894	37803894	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggtggtcactcaccctttCaaaaccatcgagctacagat	12	10	7	12	1	3	1	3	0	0	1	4	2	3	1	2	2	3	1	2	2	4	3			C3N-02423_TP	C3N-02423_NB	C	C																c.915C>T	p.=	p.F305F	ENST00000378588	9/13	180	170	10	183	183	0	strelka-varscan-mutect	CYBB,synonymous_variant,p.=,ENST00000378588,NM_000397.3;RP5-972B16.2,intron_variant,,ENST00000465127,;CYBB,non_coding_transcript_exon_variant,,ENST00000492288,;	T	ENST00000378588	Transcript	synonymous_variant	982/4324	915/1713	305/570	F	ttC/ttT	CD044781,CYBBbase_D0025:g.24831delC	1		1	CYBB	HGNC	HGNC:2578	protein_coding	YES	CCDS14242.1	ENSP00000367851	P04839	A0A0S2Z3S6	UPI0000001628	NM_000397.3			9/13		Gene3D:2.40.30.10,Pfam_domain:PF08022,PROSITE_profiles:PS51384,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF60,Superfamily_domains:SSF63380																	LOW	1	SNV	1		1,0	1										PASS		.	.												T	2	4	99	37803894	37803894	C	T	1	0	0	0	0	0	0	0	1	3936	825	29	3		3	CYBB	23	37803894	Silent	SNP	C	C3N-02423_TP	7566929	37803894	118237001	463	31382											
SSX2	0	.	GRCh38	chrX	52698089	52698089	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttccccccttttgggtcCtgtgatggagaatagttgga	7	14	12	8	0	0	2	0	1	0	1	2	4	2	3	4	3	0	2	4	3	2	5	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.613-1G>T		p.X205_splice	ENST00000336777		215	166	49	263	262	1	strelka-varscan-mutect	SSX2,splice_acceptor_variant,,ENST00000336777,NM_003147.5,NM_001278697.1;SSX2,splice_acceptor_variant,,ENST00000337502,NM_175698.2;SSX2,splice_acceptor_variant,,ENST00000476392,;	A	ENST00000336777	Transcript	splice_acceptor_variant	-/1410	613/672	205/223				1		-1	SSX2	HGNC	HGNC:11336	protein_coding	YES	CCDS14345.2	ENSP00000338796	Q16385		UPI000006D209	NM_003147.5,NM_001278697.1				7/8																		HIGH	1	SNV	1			1										PASS		rs1418130412	.												A	5	1	99	52698089	52698089	C	A	1	0	0	0	0	0	0	1	0	15582	695	24	2		2	SSX2	23	52698089	Splice_Site	SNP	C	C3N-02423_TP	14894195	52698089	103342806	464	31383											
IQSEC2	0	.	GRCh38	chrX	53254829	53254829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgagctgcgtagccgctCaaagttcttgttcatgcggt	6	12	13	10	3	3	1	2	1	1	0	3	1	3	1	1	2	4	6	1	2	2	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.1102G>C	p.Glu368Gln	p.E368Q	ENST00000396435	4/15	114	102	12	123	123	0	strelka-varscan-mutect	IQSEC2,missense_variant,p.Glu368Gln,ENST00000396435,NM_001111125.2;IQSEC2,missense_variant,p.Glu163Gln,ENST00000375365,NM_015075.1;	G	ENST00000396435	Transcript	missense_variant	1303/6011	1102/4467	368/1488	E/Q	Gag/Cag		1		-1	IQSEC2	HGNC	HGNC:29059	protein_coding	YES	CCDS48130.1	ENSP00000379712	Q5JU85		UPI00001C207D	NM_001111125.2	tolerated(0.1)		4/15		PROSITE_profiles:PS50096,hmmpanther:PTHR10663:SF61,hmmpanther:PTHR10663																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	99	53254829	53254829	C	G	1	0	0	0	0	1	0	0	0	7724	835	29	4		4	IQSEC2	23	53254829	Missense_Mutation	SNP	C	C3N-02423_TP	556740	53254829	102786066	465	31384											
WNK3	0	.	GRCh38	chrX	54238980	54238980	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggatttttgagactaggAcaagtaaagcttaggccaaa	16	10	10	5	0	0	1	0	1	0	1	0	4	0	3	1	3	1	2	1	3	7	6	novel		C3N-02423_TP	C3N-02423_NB	A	A																c.3771T>A	p.Cys1257Ter	p.C1257*	ENST00000354646	18/24	109	86	23	116	116	0	strelka-varscan-mutect	WNK3,stop_gained,p.Cys1257Ter,ENST00000354646,NM_020922.4;WNK3,stop_gained,p.Cys1257Ter,ENST00000375159,;WNK3,stop_gained,p.Cys1257Ter,ENST00000620763,;WNK3,intron_variant,,ENST00000375169,NM_001002838.3;	T	ENST00000354646	Transcript	stop_gained	4210/11341	3771/5403	1257/1800	C/*	tgT/tgA		1		-1	WNK3	HGNC	HGNC:14543	protein_coding	YES	CCDS14357.1	ENSP00000346667	Q9BYP7		UPI00001AF003	NM_020922.4			18/24		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF47																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	99	54238980	54238980	A	T	1	0	0	0	0	0	1	0	0	17935	273	10	4		4	WNK3	23	54238980	Nonsense_Mutation	SNP	A	C3N-02423_TP	984151	54238980	101801915	466	31385											
USP51	0	.	GRCh38	chrX	55488512	55488512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacgccaggccctgggcCgcggtgcgggtgggggcggg	3	4	21	13	5	0	0	0	0	0	0	1	0	1	0	4	7	1	0	4	7	0	0	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.428G>T	p.Arg143Leu	p.R143L	ENST00000500968	2/2	41	33	8	46	46	0	strelka-varscan-mutect	USP51,missense_variant,p.Arg143Leu,ENST00000500968,NM_201286.3;USP51,intron_variant,,ENST00000586165,;	A	ENST00000500968	Transcript	missense_variant	511/4407	428/2136	143/711	R/L	cGg/cTg		1		-1	USP51	HGNC	HGNC:23086	protein_coding	YES	CCDS14370.1	ENSP00000423333	Q70EK9		UPI0000232F07	NM_201286.3	tolerated_low_confidence(0.12)		2/2		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1423659906	.												A	3	1	99	55488512	55488512	C	A	1	0	0	0	0	1	0	0	0	17626	652	23	1		1	USP51	23	55488512	Missense_Mutation	SNP	C	C3N-02423_TP	1249532	55488512	100552383	467	31386											
KIAA1210	0	.	GRCh38	chrX	119081496	119081496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcagtatcttctgagcttCaaatccaactggaaccacag	12	11	7	11	0	3	1	1	1	2	0	4	2	4	2	2	1	4	3	2	1	4	4	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.4963G>A	p.Glu1655Lys	p.E1655K	ENST00000402510	14/14	53	44	9	39	39	0	strelka-varscan-mutect	KIAA1210,missense_variant,p.Glu1655Lys,ENST00000402510,NM_020721.1;	T	ENST00000402510	Transcript	missense_variant	4963/7824	4963/5130	1655/1709	E/K	Gaa/Aaa		1		-1	KIAA1210	HGNC	HGNC:29218	protein_coding	YES	CCDS48156.1	ENSP00000384670	Q9ULL0		UPI0001596C4C	NM_020721.1	deleterious(0.01)		14/14		hmmpanther:PTHR22118:SF15,hmmpanther:PTHR22118																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	99	119081496	119081496	C	T	1	0	0	0	0	1	0	0	0	8106	835	29	3		3	KIAA1210	23	119081496	Missense_Mutation	SNP	C	C3N-02423_TP	63592984	119081496	36959399	468	31387											
RBMX	0	.	GRCh38	chrX	136879021	136879021	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtgtagacaatctcacctttCcattcatgtctctggctgca	8	14	7	12	0	3	1	2	0	2	1	6	1	4	1	2	1	1	3	2	1	2	3			C3N-02423_TP	C3N-02423_NB	C	C																c.212G>C	p.Gly71Ala	p.G71A	ENST00000320676	3/9	75	69	6	110	108	2	varscan-mutect	RBMX,missense_variant,p.Gly71Ala,ENST00000562646,;RBMX,missense_variant,p.Gly71Ala,ENST00000320676,NM_002139.3;RBMX,missense_variant,p.Gly71Ala,ENST00000431446,NM_001164803.1;RBMX,missense_variant,p.Gly73Ala,ENST00000419968,;RBMX,intron_variant,,ENST00000565438,;SNORD61,downstream_gene_variant,,ENST00000384252,;RBMX,non_coding_transcript_exon_variant,,ENST00000567262,;RBMX,missense_variant,p.Gly71Ala,ENST00000568578,;RBMX,missense_variant,p.Gly71Ala,ENST00000464781,;RBMX,3_prime_UTR_variant,,ENST00000563370,;RBMX,non_coding_transcript_exon_variant,,ENST00000565907,;	G	ENST00000320676	Transcript	missense_variant	367/2012	212/1176	71/391	G/A	gGa/gCa	COSM4592648,COSM4592649	1		-1	RBMX	HGNC	HGNC:9910	protein_coding	YES	CCDS14661.1	ENSP00000359645	P38159		UPI0000134535	NM_002139.3	deleterious(0)		3/9		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF41,hmmpanther:PTHR24012,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1257957329	.												G	3	3	99	136879021	136879021	C	G	1	0	0	0	0	1	0	0	0	13317	869	30	4		4	RBMX	23	136879021	Missense_Mutation	SNP	C	C3N-02423_TP	17797525	136879021	19161874	469	31388											
FAM50A	0	.	GRCh38	chrX	154444256	154444256	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctcaatacaagggcgcCgcgagcgaggccggccgcgc	8	3	16	14	7	1	0	1	0	0	0	1	2	1	0	3	4	2	1	3	4	3	1	novel		C3N-02423_TP	C3N-02423_NB	C	C																c.21C>T	p.=	p.A7A	ENST00000393600	1/13	88	79	9	92	92	0	strelka-varscan-mutect	FAM50A,synonymous_variant,p.=,ENST00000393600,NM_004699.3;GDI1,downstream_gene_variant,,ENST00000447750,NM_001493.2;FAM50A,upstream_gene_variant,,ENST00000158526,;GDI1,downstream_gene_variant,,ENST00000630693,;GDI1,downstream_gene_variant,,ENST00000465640,;GDI1,downstream_gene_variant,,ENST00000471972,;FAM50A,non_coding_transcript_exon_variant,,ENST00000464419,;FAM50A,non_coding_transcript_exon_variant,,ENST00000481619,;GDI1,downstream_gene_variant,,ENST00000491154,;GDI1,downstream_gene_variant,,ENST00000468483,;GDI1,downstream_gene_variant,,ENST00000476540,;GDI1,downstream_gene_variant,,ENST00000481304,;GDI1,downstream_gene_variant,,ENST00000489589,;GDI1,downstream_gene_variant,,ENST00000434049,;FAM50A,upstream_gene_variant,,ENST00000478509,;GDI1,downstream_gene_variant,,ENST00000445564,;GDI1,downstream_gene_variant,,ENST00000460984,;FAM50A,upstream_gene_variant,,ENST00000490480,;	T	ENST00000393600	Transcript	synonymous_variant	131/1352	21/1020	7/339	A	gcC/gcT		1		1	FAM50A	HGNC	HGNC:18786	protein_coding	YES	CCDS14751.1	ENSP00000377225	Q14320		UPI0000138FCD	NM_004699.3			1/13		hmmpanther:PTHR12722,hmmpanther:PTHR12722:SF2																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	99	154444256	154444256	C	T	1	0	0	0	0	0	0	0	1	5453	639	23	1		1	FAM50A	23	154444256	Silent	SNP	C	C3N-02423_TP	17565235	154444256	1596639	470	31389											
ARHGEF16	0	.	GRCh38	chr1	3463205	3463205	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccaatggtccgtggcTccccgcgtgttagagacgat	6	9	13	13	4	0	1	0	0	0	1	3	3	3	1	4	3	0	3	4	3	2	1	novel		C3N-02424_TP	C3N-02424_NB	T	T																c.121T>A	p.Ser41Thr	p.S41T	ENST00000378378	2/15	63	52	11	75	75	0	strelka-varscan-mutect	ARHGEF16,missense_variant,p.Ser41Thr,ENST00000378378,NM_014448.3;ARHGEF16,upstream_gene_variant,,ENST00000378371,;ARHGEF16,upstream_gene_variant,,ENST00000378373,;	A	ENST00000378378	Transcript	missense_variant	526/3061	121/2130	41/709	S/T	Tcc/Acc		1		1	ARHGEF16	HGNC	HGNC:15515	protein_coding	YES	CCDS46.2	ENSP00000367629	Q5VV41		UPI00002039A3	NM_014448.3	tolerated(0.25)		2/15		hmmpanther:PTHR12845:SF3,hmmpanther:PTHR12845																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	100	3463205	3463205	T	A	1	0	0	0	0	1	0	0	0	1029	1551	54	4		4	ARHGEF16	1	3463205	Missense_Mutation	SNP	T	C3N-02424_TP		3463205	245493217	1	31390											
USP24	0	.	GRCh38	chr1	55079546	55079546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagtacatacctctaacaGgtaaggtttcccttcagaca	14	10	6	11	0	2	1	1	0	1	1	3	1	3	1	2	2	3	3	2	2	5	6	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.7192C>G	p.Leu2398Val	p.L2398V	ENST00000294383	60/68	201	190	11	425	424	1	strelka-varscan-mutect	USP24,missense_variant,p.Leu2398Val,ENST00000294383,NM_015306.2;USP24,upstream_gene_variant,,ENST00000484447,;USP24,downstream_gene_variant,,ENST00000472566,;USP24,downstream_gene_variant,,ENST00000512504,;	C	ENST00000294383	Transcript	missense_variant	7192/10549	7192/7863	2398/2620	L/V	Ctg/Gtg		1		-1	USP24	HGNC	HGNC:12623	protein_coding	YES	CCDS44154.2	ENSP00000294383	Q9UPU5		UPI000059CFDE	NM_015306.2	tolerated(0.19)		60/68																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	100	55079546	55079546	G	C	1	0	0	0	0	1	0	0	0	17596	991	35	4		4	USP24	1	55079546	Missense_Mutation	SNP	G	C3N-02424_TP	51616341	55079546	193876876	2	31391											
LHX8	0	.	GRCh38	chr1	75143261	75143262	+	Frame_Shift_Ins	INS	-	-	T																															tccacaggagaggagtttgcINStttggtggaagagaaagtcc																								novel		C3N-02424_TP	C3N-02424_NB	-	-																c.536dupT	p.Leu179PhefsTer13	p.L179Ffs*13	ENST00000294638	6/10	165	144	21	312	312	0	sindel-varindel-pindel	LHX8,frameshift_variant,p.Leu179PhefsTer13,ENST00000294638,NM_001001933.1;LHX8,frameshift_variant,p.Leu169PhefsTer13,ENST00000356261,NM_001256114.1;	T	ENST00000294638	Transcript	frameshift_variant	1197-1198/2373	533-534/1071	178/356	A/AX	gct/gcTt		1		1	LHX8	HGNC	HGNC:28838	protein_coding	YES	CCDS30756.1	ENSP00000294638	Q68G74		UPI00001972E8	NM_001001933.1			6/10		Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_profiles:PS50023,hmmpanther:PTHR24208,SMART_domains:SM00132																	HIGH	1	insertion	1	3		1										PASS		.	.												T	7	5	100	75143261	75143261	-	T	1	0	1	1	0	0	0	0	0	8685	797	28	0		0	LHX8	1	75143261	Frame_Shift_Ins	INS	-	C3N-02424_TP	20063715	75143261	173813161	3	31392											
BRDT	0	.	GRCh38	chr1	91991240	91991240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctccttctaaagagaatGtaaaggtaagtgaattcttt	14	15	7	5	0	3	2	0	1	3	1	4	3	3	2	1	1	0	2	1	1	7	7	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.2071G>T	p.Val691Leu	p.V691L	ENST00000399546	13/19	22	19	3	93	93	0	strelka-mutect	BRDT,missense_variant,p.Val614Leu,ENST00000370389,NM_001242810.2;BRDT,missense_variant,p.Val687Leu,ENST00000362005,NM_001242805.2,NM_207189.3;BRDT,missense_variant,p.Val691Leu,ENST00000399546,NM_001242806.2;BRDT,missense_variant,p.Val641Leu,ENST00000394530,NM_001242808.2,NM_001242807.2;BRDT,missense_variant,p.Val687Leu,ENST00000402388,NM_001726.4;	T	ENST00000399546	Transcript	missense_variant	2420/3357	2071/2856	691/951	V/L	Gta/Tta		1		1	BRDT	HGNC	HGNC:1105	protein_coding	YES	CCDS72820.1	ENSP00000387822	Q58F21		UPI000292A27D	NM_001242806.2	tolerated(0.31)		13/19																			MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	100	91991240	91991240	G	T	1	0	0	0	0	1	0	0	0	1678	1391	48	2		2	BRDT	1	91991240	Missense_Mutation	SNP	G	C3N-02424_TP	16847979	91991240	156965182	4	31393											
FLG	0	.	GRCh38	chr1	152308784	152308784	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtaccctcggtgtccActgtctctgactgcagatga	7	11	9	14	1	1	3	0	2	1	1	4	3	2	3	3	1	2	2	3	1	1	1	rs766524788		C3N-02424_TP	C3N-02424_NB	A	A																c.6102T>A	p.Ser2034Arg	p.S2034R	ENST00000368799	3/3	737	664	73	1142	1142	0	strelka-varscan-mutect	FLG,missense_variant,p.Ser2034Arg,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	T	ENST00000368799	Transcript	missense_variant	6138/12747	6102/12186	2034/4061	S/R	agT/agA	rs766524788	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1	tolerated(0.5)		3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571,Pfam_domain:PF03516																	MODERATE	1	SNV	1			1										PASS		rs766524788	.												T	3	4	100	152308784	152308784	A	T	1	0	0	0	0	1	0	0	0	5784	156	6	4		4	FLG	1	152308784	Missense_Mutation	SNP	A	C3N-02424_TP	60317544	152308784	96647638	5	31394											
ARHGAP30	0	.	GRCh38	chr1	161048173	161048173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgctacacattgcactggGcatcttggcaaactgtggct	8	12	10	11	0	1	0	0	0	1	0	1	0	1	0	0	3	4	5	0	3	2	4	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.2848C>A	p.Pro950Thr	p.P950T	ENST00000368013	12/12	196	178	18	280	279	1	strelka-varscan-mutect	ARHGAP30,missense_variant,p.Pro950Thr,ENST00000368013,NM_001287600.1,NM_001025598.1;ARHGAP30,missense_variant,p.Pro773Thr,ENST00000368015,NM_001287602.1;ARHGAP30,missense_variant,p.Pro739Thr,ENST00000368016,NM_181720.2;USF1,upstream_gene_variant,,ENST00000368021,NM_007122.4,NM_207005.2;USF1,upstream_gene_variant,,ENST00000368020,NM_001276373.1;USF1,upstream_gene_variant,,ENST00000368019,;USF1,upstream_gene_variant,,ENST00000531842,;USF1,upstream_gene_variant,,ENST00000534633,;ARHGAP30,non_coding_transcript_exon_variant,,ENST00000461003,;ARHGAP30,downstream_gene_variant,,ENST00000490279,;USF1,upstream_gene_variant,,ENST00000473969,;USF1,upstream_gene_variant,,ENST00000496363,;USF1,upstream_gene_variant,,ENST00000491629,;USF1,upstream_gene_variant,,ENST00000529476,;	T	ENST00000368013	Transcript	missense_variant	3169/4394	2848/3306	950/1101	P/T	Ccc/Acc		1		-1	ARHGAP30	HGNC	HGNC:27414	protein_coding	YES	CCDS30918.1	ENSP00000356992	Q7Z6I6		UPI0000160677	NM_001287600.1,NM_001025598.1	deleterious(0)		12/12		hmmpanther:PTHR15729:SF12,hmmpanther:PTHR15729																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	100	161048173	161048173	G	T	1	0	0	0	0	1	0	0	0	1004	1203	42	2		2	ARHGAP30	1	161048173	Missense_Mutation	SNP	G	C3N-02424_TP	8739389	161048173	87908249	6	31395											
CR1L	0	.	GRCh38	chr1	207677448	207677448	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaccaacctaactgatgacTttgagtttcccattgggaca	11	12	7	11	0	0	3	0	3	0	0	1	4	1	4	3	1	3	1	3	1	3	5	rs747900861		C3N-02424_TP	C3N-02424_NB	T	T																c.157T>A	p.Phe53Ile	p.F53I	ENST00000508064	2/12	134	127	7	170	170	0	varscan-mutect	CR1L,missense_variant,p.Phe53Ile,ENST00000508064,NM_175710.1;CR1L,non_coding_transcript_exon_variant,,ENST00000530905,;CR1L,non_coding_transcript_exon_variant,,ENST00000430248,;CR1L,non_coding_transcript_exon_variant,,ENST00000531844,;CR1L,upstream_gene_variant,,ENST00000294997,;	A	ENST00000508064	Transcript	missense_variant	217/1788	157/1710	53/569	F/I	Ttt/Att	rs747900861	1		1	CR1L	HGNC	HGNC:2335	protein_coding	YES	CCDS44310.1	ENSP00000421736	Q2VPA4		UPI0000DD792A	NM_175710.1	deleterious(0.03)		2/12		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF354,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	2			1										PASS		rs747900861	.												A	3	1	100	207677448	207677448	T	A	1	0	0	0	0	1	0	0	0	3639	1609	56	4		4	CR1L	1	207677448	Missense_Mutation	SNP	T	C3N-02424_TP	46629275	207677448	41278974	7	31396											
MYT1L	0	.	GRCh38	chr2	1943229	1943229	+	Frame_Shift_Del	DEL	T	T	-																															ctgtcgtcacactcatccacTgaggagctgtctgctttcac																								novel		C3N-02424_TP	C3N-02424_NB	T	T																c.258delA	p.Val87TrpfsTer87	p.V87Wfs*87	ENST00000399161	9/25	285	250	35	394	394	0	sindel-varindel-pindel	MYT1L,frameshift_variant,p.Val87TrpfsTer87,ENST00000399161,NM_001303052.1;MYT1L,frameshift_variant,p.Val87TrpfsTer87,ENST00000428368,NM_015025.3;	-	ENST00000399161	Transcript	frameshift_variant	1006/7063	258/3561	86/1186	S/X	tcA/tc		1		-1	MYT1L	HGNC	HGNC:7623	protein_coding	YES	CCDS77378.1	ENSP00000382114	Q9UL68		UPI0000140B19	NM_001303052.1			9/25		Low_complexity_(Seg):seg,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF11																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	100	1943229	1943229	T	-	1	0	1	0	1	0	0	0	0	10106	1567	55	0		0	MYT1L	2	1943229	Frame_Shift_Del	DEL	T	C3N-02424_TP		1943229	240250300	8	31397											
ADAMTS9	0	.	GRCh38	chr3	64686782	64686782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccgaaggcagagaggCggtaatgcgcctgggaggag	9	4	20	8	3	0	1	0	0	0	1	0	5	0	3	2	6	1	3	2	6	2	1	novel		C3N-02424_TP	C3N-02424_NB	C	C																c.302G>A	p.Arg101His	p.R101H	ENST00000498707	2/40	254	221	33	373	373	0	strelka-varscan-mutect	ADAMTS9,missense_variant,p.Arg101His,ENST00000498707,NM_182920.1;ADAMTS9,missense_variant,p.Arg101His,ENST00000295903,NM_001318781.1;ADAMTS9,missense_variant,p.Arg101His,ENST00000459780,;ADAMTS9-AS2,intron_variant,,ENST00000460833,;ADAMTS9-AS2,intron_variant,,ENST00000474768,;ADAMTS9-AS2,intron_variant,,ENST00000481312,;ADAMTS9-AS2,intron_variant,,ENST00000485174,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000475557,;ADAMTS9,upstream_gene_variant,,ENST00000482490,;	T	ENST00000498707	Transcript	missense_variant	645/7624	302/5808	101/1935	R/H	cGc/cAc		1		-1	ADAMTS9	HGNC	HGNC:13202	protein_coding	YES	CCDS2903.1	ENSP00000418735	Q9P2N4		UPI00000463F0	NM_182920.1	deleterious(0)		2/40		Pfam_domain:PF01562																	MODERATE	1	SNV	1			1										PASS		rs1175785790	.												T	3	4	100	64686782	64686782	C	T	1	0	0	0	0	1	0	0	0	317	768	27	1		1	ADAMTS9	3	64686782	Missense_Mutation	SNP	C	C3N-02424_TP		64686782	133608777	9	31398											
EVC	0	.	GRCh38	chr4	5798723	5798723	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacatggagtgcgccattggGcaggcgctgctggtgcatgc	6	8	16	11	2	0	0	0	0	0	0	0	1	0	1	1	4	4	4	1	4	0	1	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.2235G>A	p.=	p.G745G	ENST00000264956	15/21	235	215	20	341	340	1	strelka-varscan-mutect	EVC,synonymous_variant,p.=,ENST00000264956,NM_001306090.1,NM_153717.2;EVC,non_coding_transcript_exon_variant,,ENST00000515113,;CRMP1,intron_variant,,ENST00000506216,;EVC,downstream_gene_variant,,ENST00000506240,;	A	ENST00000264956	Transcript	synonymous_variant	2419/6431	2235/2979	745/992	G	ggG/ggA		1		1	EVC	HGNC	HGNC:3497	protein_coding	YES	CCDS3383.1	ENSP00000264956	P57679		UPI000012A2A5	NM_001306090.1,NM_153717.2			15/21		hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF13																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	100	5798723	5798723	G	A	1	0	0	0	0	0	0	0	1	5152	1190	42	3		3	EVC	4	5798723	Silent	SNP	G	C3N-02424_TP		5798723	184415832	10	31399											
ADGRL3	0	.	GRCh38	chr4	61983414	61983414	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcgctgccctgttacAtttcttcttcttggctgcct	2	20	7	12	1	3	0	0	0	3	0	4	0	3	0	2	1	3	4	2	1	1	7	novel		C3N-02424_TP	C3N-02424_NB	A	A																c.2843A>G	p.His948Arg	p.H948R	ENST00000514591	18/25	119	99	20	187	187	0	strelka-varscan	ADGRL3,missense_variant,p.His948Arg,ENST00000512091,NM_001322246.1;ADGRL3,missense_variant,p.His948Arg,ENST00000514591,NM_015236.4;ADGRL3,missense_variant,p.His1016Arg,ENST00000509896,;ADGRL3,missense_variant,p.His1016Arg,ENST00000511324,;ADGRL3,missense_variant,p.His1016Arg,ENST00000508693,;ADGRL3,missense_variant,p.His1016Arg,ENST00000507164,;ADGRL3,missense_variant,p.His1016Arg,ENST00000506720,;ADGRL3,missense_variant,p.His1016Arg,ENST00000506746,;ADGRL3,missense_variant,p.His1016Arg,ENST00000507625,;ADGRL3,missense_variant,p.His948Arg,ENST00000506700,;ADGRL3,missense_variant,p.His948Arg,ENST00000504896,;ADGRL3,missense_variant,p.His948Arg,ENST00000514157,;ADGRL3,missense_variant,p.His948Arg,ENST00000508946,;ADGRL3,missense_variant,p.His948Arg,ENST00000514996,;ADGRL3,missense_variant,p.His406Arg,ENST00000502815,;	G	ENST00000514591	Transcript	missense_variant	3172/6297	2843/4410	948/1469	H/R	cAt/cGt		1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2		UPI00016278EF	NM_015236.4	deleterious(0)		18/25		Low_complexity_(Seg):seg,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF60,hmmpanther:PTHR12011,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	100	61983414	61983414	A	G	1	0	0	0	0	1	0	0	0	377	217	8	5		5	ADGRL3	4	61983414	Missense_Mutation	SNP	A	C3N-02424_TP	56184691	61983414	128231141	11	31400											
UGT2A1	0	.	GRCh38	chr4	69589521	69589521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaccaggtgaggtcatGggctgcaacccgaaggtgct	9	7	15	10	1	1	1	1	1	0	0	1	3	1	2	2	5	4	3	2	5	3	0	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.1933C>A	p.His645Asn	p.H645N	ENST00000514019	7/7	232	201	31	408	407	1	strelka-varscan	UGT2A1,missense_variant,p.His479Asn,ENST00000503640,NM_006798.4;UGT2A1,missense_variant,p.His435Asn,ENST00000512704,NM_001301239.1;UGT2A1,missense_variant,p.His645Asn,ENST00000514019,NM_001252274.2;UGT2A1,missense_variant,p.His479Asn,ENST00000286604,NM_001252275.2;UGT2A2,missense_variant,p.His488Asn,ENST00000604629,NM_001105677.2;UGT2A2,missense_variant,p.His444Asn,ENST00000604021,NM_001301233.1;UGT2A1,downstream_gene_variant,,ENST00000502343,;RP11-401E5.2,upstream_gene_variant,,ENST00000506662,;	T	ENST00000514019	Transcript	missense_variant	2049/2376	1933/2082	645/693	H/N	Cat/Aat		1		-1	UGT2A1	HGNC	HGNC:12542	protein_coding	YES	CCDS58902.1	ENSP00000425497		A0A140T9Z0	UPI0004620AF5	NM_001252274.2	deleterious(0.01)		7/7		Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF229																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	100	69589521	69589521	G	T	1	0	0	0	0	1	0	0	0	17478	1348	47	2		2	UGT2A1	4	69589521	Missense_Mutation	SNP	G	C3N-02424_TP	7606107	69589521	120625034	12	31401											
SHROOM3	0	.	GRCh38	chr4	76754309	76754309	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtctgtgtgccgttccAggtcactcagttgttcagaa	6	14	10	11	1	4	1	3	0	1	1	6	1	6	1	3	1	1	3	3	1	1	3	novel		C3N-02424_TP	C3N-02424_NB	A	A																c.3828-2A>T		p.X1276_splice	ENST00000296043		222	201	21	302	302	0	strelka-varscan	SHROOM3,splice_acceptor_variant,,ENST00000296043,NM_020859.3;RP11-359D14.2,downstream_gene_variant,,ENST00000452412,;RP11-359D14.3,downstream_gene_variant,,ENST00000449007,;SHROOM3,splice_acceptor_variant,,ENST00000469923,;	T	ENST00000296043	Transcript	splice_acceptor_variant	-/11020	3828/5991	1276/1996				1		1	SHROOM3	HGNC	HGNC:30422	protein_coding	YES	CCDS3579.2	ENSP00000296043	Q8TF72		UPI0000E5AC1C	NM_020859.3				6/10																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	100	76754309	76754309	A	T	1	0	0	0	0	0	0	1	0	14558	202	7	4		4	SHROOM3	4	76754309	Splice_Site	SNP	A	C3N-02424_TP	7164788	76754309	113460246	13	31402											
FGB	0	.	GRCh38	chr4	154570481	154570481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtggatggtggtataataGatgtcatgcagccaatccaa	12	11	12	6	0	1	1	1	0	0	1	2	2	2	2	2	4	2	2	2	4	5	3	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.1307G>A	p.Arg436Lys	p.R436K	ENST00000302068	8/8	356	337	19	522	522	0	strelka-varscan	FGB,missense_variant,p.Arg436Lys,ENST00000302068,NM_005141.4,NM_001184741.1;FGB,missense_variant,p.Arg217Lys,ENST00000509493,;FGB,non_coding_transcript_exon_variant,,ENST00000502545,;FGB,downstream_gene_variant,,ENST00000498375,;FGB,downstream_gene_variant,,ENST00000473984,;FGB,downstream_gene_variant,,ENST00000497097,;FGB,downstream_gene_variant,,ENST00000425838,;	A	ENST00000302068	Transcript	missense_variant	1370/1975	1307/1476	436/491	R/K	aGa/aAa		1		1	FGB	HGNC	HGNC:3662	protein_coding	YES	CCDS3786.1	ENSP00000306099	P02675	V9HVY1	UPI000012A778	NM_005141.4,NM_001184741.1	tolerated(0.3)		8/8		Gene3D:4.10.530.10,Pfam_domain:PF00147,PROSITE_patterns:PS00514,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF203,SMART_domains:SM00186,Superfamily_domains:SSF56496																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	100	154570481	154570481	G	A	1	0	0	0	0	1	0	0	0	5695	942	33	3		3	FGB	4	154570481	Missense_Mutation	SNP	G	C3N-02424_TP	77816172	154570481	35644074	14	31403											
UBE2QL1	0	.	GRCh38	chr5	6448902	6448902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccggcggctcatgaaggaGctgcaggacatcgcgcgcct	8	5	15	13	5	1	1	1	1	0	0	2	3	1	3	2	4	3	3	2	4	1	0	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.9G>T	p.Glu3Asp	p.E3D	ENST00000399816	1/2	110	100	10	81	81	0	strelka-varscan-mutect	UBE2QL1,missense_variant,p.Glu3Asp,ENST00000399816,NM_001145161.2;	T	ENST00000399816	Transcript	missense_variant	280/4317	9/486	3/161	E/D	gaG/gaT		1		1	UBE2QL1	HGNC	HGNC:37269	protein_coding	YES	CCDS47189.1	ENSP00000382713	A1L167		UPI000020BF29	NM_001145161.2	deleterious(0)		1/2		PROSITE_profiles:PS50127,hmmpanther:PTHR24068:SF72,hmmpanther:PTHR24068,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	100	6448902	6448902	G	T	1	0	0	0	0	1	0	0	0	17393	962	34	2		2	UBE2QL1	5	6448902	Missense_Mutation	SNP	G	C3N-02424_TP		6448902	175089357	15	31404											
UBE2QL1	0	.	GRCh38	chr5	6449161	6449161	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acggcggcgccatctgcatgGagctgctcacgccgcgcggc	5	5	15	16	7	2	0	1	0	1	0	2	1	2	1	2	4	3	3	2	4	0	0	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.268G>T	p.Glu90Ter	p.E90*	ENST00000399816	1/2	102	96	6	73	73	0	strelka-mutect	UBE2QL1,stop_gained,p.Glu90Ter,ENST00000399816,NM_001145161.2;	T	ENST00000399816	Transcript	stop_gained	539/4317	268/486	90/161	E/*	Gag/Tag		1		1	UBE2QL1	HGNC	HGNC:37269	protein_coding	YES	CCDS47189.1	ENSP00000382713	A1L167		UPI000020BF29	NM_001145161.2			1/2		PROSITE_profiles:PS50127,hmmpanther:PTHR24068:SF72,hmmpanther:PTHR24068,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	100	6449161	6449161	G	T	1	0	0	0	0	0	1	0	0	17393	1175	41	2		2	UBE2QL1	5	6449161	Nonsense_Mutation	SNP	G	C3N-02424_TP	259	6449161	175089098	16	31405											
PDE6A	0	.	GRCh38	chr5	149944651	149944651	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaggaacttctccaccTcctctgctgtcacctcgccc	6	10	6	19	1	3	0	1	0	2	0	7	1	5	1	6	1	2	1	6	1	1	1	novel		C3N-02424_TP	C3N-02424_NB	T	T																c.23A>T	p.Glu8Val	p.E8V	ENST00000255266	1/22	252	221	31	364	364	0	strelka-varscan-mutect	PDE6A,missense_variant,p.Glu8Val,ENST00000255266,NM_000440.2;PDE6A,missense_variant,p.Glu8Val,ENST00000613228,;PDE6A,missense_variant,p.Glu8Val,ENST00000617647,;Y_RNA,upstream_gene_variant,,ENST00000363464,;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;	A	ENST00000255266	Transcript	missense_variant	143/5642	23/2583	8/860	E/V	gAg/gTg		1		-1	PDE6A	HGNC	HGNC:8785	protein_coding	YES	CCDS4299.1	ENSP00000255266	P16499		UPI000013CE9F	NM_000440.2	tolerated(0.33)		1/22		hmmpanther:PTHR11347:SF115,hmmpanther:PTHR11347																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	100	149944651	149944651	T	A	1	0	0	0	0	1	0	0	0	11733	1551	54	4		4	PDE6A	5	149944651	Missense_Mutation	SNP	T	C3N-02424_TP	143495490	149944651	31593608	17	31406											
TNXB	0	.	GRCh38	chr6	32095831	32095831	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcccgcagtcctcaccGccatagcccacgtggcacag	7	6	9	19	3	1	0	1	0	0	0	3	0	3	0	6	1	2	2	6	1	1	1	rs553907333		C3N-02424_TP	C3N-02424_NB	G	G																c.2022C>A	p.=	p.G674G	ENST00000375244	3/44	294	231	63	387	386	1	strelka-varscan	TNXB,synonymous_variant,p.=,ENST00000375244,NM_019105.6;TNXB,synonymous_variant,p.=,ENST00000613214,;TNXB,synonymous_variant,p.=,ENST00000479795,;TNXB,downstream_gene_variant,,ENST00000442721,;ATF6B,downstream_gene_variant,,ENST00000494022,;TNXB,non_coding_transcript_exon_variant,,ENST00000486148,;	T	ENST00000375244	Transcript	synonymous_variant	2224/13132	2022/12735	674/4244	G	ggC/ggA	rs553907333	1		-1	TNXB	HGNC	HGNC:11976	protein_coding			ENSP00000364393	P22105	E7EPZ9	UPI0001B798E9	NM_019105.6			3/44		PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,Gene3D:2gy5A03,SMART_domains:SM00181																	LOW		SNV	5			1										PASS		.	.												T	2	4	100	32095831	32095831	G	T	1	0	0	0	0	0	0	0	1	16820	1074	38	1		1	TNXB	6	32095831	Silent	SNP	G	C3N-02424_TP		32095831	138710148	18	31407											
MDN1	0	.	GRCh38	chr6	89793953	89793953	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caactgggcctcttctaataAcctgagagaaaggagagtct	13	9	10	9	0	3	3	0	1	3	2	3	5	3	3	2	2	2	0	2	2	4	3	novel		C3N-02424_TP	C3N-02424_NB	A	A																c.664T>G	p.Leu222Val	p.L222V	ENST00000369393	5/102	69	53	16	64	63	1	strelka-mutect	MDN1,missense_variant,p.Leu222Val,ENST00000369393,NM_014611.2;MDN1,missense_variant,p.Leu222Val,ENST00000629399,;MDN1,missense_variant,p.Leu222Val,ENST00000439638,;DNAJC19P6,upstream_gene_variant,,ENST00000401853,;	C	ENST00000369393	Transcript	missense_variant,splice_region_variant	780/18413	664/16791	222/5596	L/V	Tta/Gta		1		-1	MDN1	HGNC	HGNC:18302	protein_coding	YES	CCDS5024.1	ENSP00000358400	Q9NU22		UPI000013C4B8	NM_014611.2	tolerated(0.1)		5/102		hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF64																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	100	89793953	89793953	A	C	1	0	0	0	0	1	0	0	0	9353	57	2	5		5	MDN1	6	89793953	Missense_Mutation	SNP	A	C3N-02424_TP	57698122	89793953	81012026	19	31408											
RSPH4A	0	.	GRCh38	chr6	116628150	116628152	+	In_Frame_Del	DEL	TAA	TAA	-																															cctttcccaggaaatgagagTaattatttacgagcacaaat																								novel		C3N-02424_TP	C3N-02424_NB	TAA	TAA																c.1444_1446delAAT	p.Asn482del	p.N482del	ENST00000229554	3/6	191	180	11	277	277	0	varindel-pindel	RSPH4A,inframe_deletion,p.Asn482del,ENST00000229554,NM_001010892.2;RSPH4A,inframe_deletion,p.Asn482del,ENST00000368581,NM_001161664.1;RSPH4A,intron_variant,,ENST00000368580,;	-	ENST00000229554	Transcript	inframe_deletion	1580-1582/2825	1443-1445/2151	481-482/716	SN/S	agTAAt/agt		1		1	RSPH4A	HGNC	HGNC:21558	protein_coding	YES	CCDS34521.1	ENSP00000229554	Q5TD94		UPI00001D80C4	NM_001010892.2			3/6		hmmpanther:PTHR13159:SF4,hmmpanther:PTHR13159,Pfam_domain:PF04712																	MODERATE	1	deletion	1	1		1										PASS		.	.												-	7	5	100	116628150	116628150	TAA	-	1	0	1	0	1	0	0	0	0	13964	1635	57	0		0	RSPH4A	6	116628150	In_Frame_Del	DEL	TAA	C3N-02424_TP	26834197	116628150	54177829	20	31409											
SCIN	0	.	GRCh38	chr7	12644203	12644203	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaactgccacaaaatagTggctacatctgggtaggaaa	15	8	10	8	0	1	1	0	1	1	0	1	2	1	2	1	3	3	2	1	3	7	3	novel		C3N-02424_TP	C3N-02424_NB	T	T																c.1647T>G	p.Ser549Arg	p.S549R	ENST00000297029	12/16	175	141	34	254	254	0	strelka-varscan-mutect	SCIN,missense_variant,p.Ser549Arg,ENST00000297029,NM_001112706.2;SCIN,missense_variant,p.Ser302Arg,ENST00000519209,NM_033128.3;SCIN,intron_variant,,ENST00000341757,;	G	ENST00000297029	Transcript	missense_variant	1748/9713	1647/2148	549/715	S/R	agT/agG		1		1	SCIN	HGNC	HGNC:21695	protein_coding	YES	CCDS47545.1	ENSP00000297029	Q9Y6U3		UPI000013C4DF	NM_001112706.2	tolerated(0.42)		12/16		Gene3D:3.40.20.10,Pfam_domain:PF00626,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF14,SMART_domains:SM00262,Superfamily_domains:SSF55753																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	100	12644203	12644203	T	G	1	0	0	0	0	1	0	0	0	14174	1693	59	5		5	SCIN	7	12644203	Missense_Mutation	SNP	T	C3N-02424_TP		12644203	146701770	21	31410											
DNAH11	0	.	GRCh38	chr7	21816686	21816686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggacctgaaagtcacaCatttgggccagaaagggtat	14	8	12	7	0	1	2	1	1	0	1	1	4	1	3	2	3	0	1	2	3	4	2	novel		C3N-02424_TP	C3N-02424_NB	C	C																c.10552C>T	p.His3518Tyr	p.H3518Y	ENST00000409508	64/82	135	117	18	183	183	0	strelka-varscan-mutect	DNAH11,missense_variant,p.His3518Tyr,ENST00000409508,NM_001277115.1;DNAH11,missense_variant,p.His3525Tyr,ENST00000328843,;DNAH11,missense_variant,p.His3525Tyr,ENST00000620169,;	T	ENST00000409508	Transcript	missense_variant	10583/14167	10552/13551	3518/4516	H/Y	Cat/Tat		1		1	DNAH11	HGNC	HGNC:2942	protein_coding	YES	CCDS64602.1	ENSP00000475939	Q96DT5		UPI0002B8CE70	NM_001277115.1	deleterious(0)		64/82		hmmpanther:PTHR10676:SF263,hmmpanther:PTHR10676,Pfam_domain:PF12781																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	100	21816686	21816686	C	T	1	0	0	0	0	1	0	0	0	4413	478	17	3		3	DNAH11	7	21816686	Missense_Mutation	SNP	C	C3N-02424_TP	9172483	21816686	137529287	22	31411											
EVX1	0	.	GRCh38	chr7	27243453	27243453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgccgagtaccagcacagCaaaggtagccaccgtgcccc	12	3	10	16	3	0	0	0	0	0	0	0	1	0	0	6	1	6	4	6	1	4	2			C3N-02424_TP	C3N-02424_NB	C	C																c.423C>G	p.Ser141Arg	p.S141R	ENST00000496902	1/3	65	60	5	79	79	0	strelka-varscan	EVX1,missense_variant,p.Ser141Arg,ENST00000496902,NM_001989.4,NM_001304519.1;EVX1,intron_variant,,ENST00000580535,;EVX1,intron_variant,,ENST00000222761,;RP1-170O19.17,upstream_gene_variant,,ENST00000523608,;EVX1-AS,intron_variant,,ENST00000519218,;EVX1-AS,intron_variant,,ENST00000517726,;EVX1-AS,upstream_gene_variant,,ENST00000519050,;EVX1,upstream_gene_variant,,ENST00000518886,;	G	ENST00000496902	Transcript	missense_variant	754/2955	423/1224	141/407	S/R	agC/agG	COSM746298	1		1	EVX1	HGNC	HGNC:3506	protein_coding	YES	CCDS5413.1	ENSP00000419266	P49640		UPI000012A2AD	NM_001989.4,NM_001304519.1	tolerated(0.11)		1/3		hmmpanther:PTHR24329:SF246,hmmpanther:PTHR24329											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	100	27243453	27243453	C	G	1	0	0	0	0	1	0	0	0	5161	724	25	4		4	EVX1	7	27243453	Missense_Mutation	SNP	C	C3N-02424_TP	5426767	27243453	132102520	23	31412											
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcacagattttgggcTggccaaactgctgggtgcgg	9	9	14	9	1	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	2	2	rs121434568		C3N-02424_TP	C3N-02424_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	503	472	31	583	581	2	strelka-varscan-mutect	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		rs121434568	.												G	3	3	100	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3N-02424_TP	27948369	55191822	104154151	24	31413											
ZNF716	0	.	GRCh38	chr7	57462532	57462532	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgcctggatcatgctcagCagaatttatatagagatgtg	13	12	10	6	0	2	2	2	0	0	2	2	4	2	3	1	1	3	2	1	1	5	4	novel		C3N-02424_TP	C3N-02424_NB	C	C																c.112C>A	p.Gln38Lys	p.Q38K	ENST00000420713	2/4	149	133	16	308	307	1	strelka-varscan-mutect	ZNF716,missense_variant,p.Gln38Lys,ENST00000420713,NM_001159279.1;	A	ENST00000420713	Transcript	missense_variant	224/5197	112/1488	38/495	Q/K	Cag/Aag		1		1	ZNF716	HGNC	HGNC:32458	protein_coding	YES	CCDS55112.1	ENSP00000394248	A6NP11		UPI00004192FD	NM_001159279.1	deleterious(0.05)		2/4		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,SMART_domains:SM00349																	MODERATE	1	SNV	4			1										PASS		rs1242623812	.												A	3	1	100	57462532	57462532	C	A	1	0	0	0	0	1	0	0	0	18694	711	25	2		2	ZNF716	7	57462532	Missense_Mutation	SNP	C	C3N-02424_TP	2270710	57462532	101883441	25	31414											
SEMA3A	0	.	GRCh38	chr7	83977191	83977191	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttatatcttgtcgtcttGtgcgtctgaagcaattacat	8	18	7	8	2	4	1	0	1	4	0	5	1	4	1	0	0	3	1	0	0	5	6	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.1658C>G	p.Thr553Arg	p.T553R	ENST00000265362	15/17	84	79	5	165	165	0	strelka-varscan	SEMA3A,missense_variant,p.Thr553Arg,ENST00000265362,NM_006080.2;SEMA3A,missense_variant,p.Thr553Arg,ENST00000436949,;	C	ENST00000265362	Transcript	missense_variant	1973/8225	1658/2316	553/771	T/R	aCa/aGa		1		-1	SEMA3A	HGNC	HGNC:10723	protein_coding	YES	CCDS5599.1	ENSP00000265362	Q14563		UPI0000135A60	NM_006080.2	tolerated(0.05)		15/17		Gene3D:3.30.1680.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF23,SMART_domains:SM00423,Superfamily_domains:SSF103575																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	100	83977191	83977191	G	C	1	0	0	0	0	1	0	0	0	14300	1391	48	4		4	SEMA3A	7	83977191	Missense_Mutation	SNP	G	C3N-02424_TP	26514659	83977191	75368782	26	31415											
DLX6	0	.	GRCh38	chr7	97006010	97006010	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actacgatggctgacggcttGgaaggccaggactcgtccaa	10	7	13	11	3	0	1	0	1	0	0	2	4	1	3	2	5	1	2	2	5	3	2	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.33G>C	p.Leu11Phe	p.L11F	ENST00000518156	1/3	125	106	19	201	201	0	strelka-varscan	DLX6,missense_variant,p.Leu11Phe,ENST00000518156,NM_005222.3;DLX6,upstream_gene_variant,,ENST00000555308,;DLX6-AS1,intron_variant,,ENST00000430027,;DLX6-AS1,intron_variant,,ENST00000605417,;DLX6-AS1,intron_variant,,ENST00000437331,;DLX6-AS1,intron_variant,,ENST00000452769,;DLX6-AS1,intron_variant,,ENST00000458352,;DLX6-AS1,intron_variant,,ENST00000430404,;DLX6-AS1,intron_variant,,ENST00000437541,;DLX6-AS1,upstream_gene_variant,,ENST00000431497,;DLX6,upstream_gene_variant,,ENST00000493273,;	C	ENST00000518156	Transcript	missense_variant	463/2304	33/882	11/293	L/F	ttG/ttC		1		1	DLX6	HGNC	HGNC:2919	protein_coding	YES	CCDS47647.2	ENSP00000428480	P56179		UPI0000EE57E0	NM_005222.3	deleterious(0)		1/3		hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF26																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	100	97006010	97006010	G	C	1	0	0	0	0	1	0	0	0	4382	1339	47	4		4	DLX6	7	97006010	Missense_Mutation	SNP	G	C3N-02424_TP	13028819	97006010	62339963	27	31416											
RELN	0	.	GRCh38	chr7	103651667	103651667	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaatgtactcacccactgTagttttcagaggagtagaca	13	10	10	8	0	2	3	2	0	0	3	2	5	2	4	1	1	1	4	1	1	4	5	novel		C3N-02424_TP	C3N-02424_NB	T	T																c.1886A>T	p.Tyr629Phe	p.Y629F	ENST00000428762	15/65	270	243	27	345	345	0	strelka-varscan-mutect	RELN,missense_variant,p.Tyr629Phe,ENST00000424685,;RELN,missense_variant,p.Tyr629Phe,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Tyr629Phe,ENST00000343529,NM_173054.2;	A	ENST00000428762	Transcript	missense_variant	2046/11571	1886/10383	629/3460	Y/F	tAc/tTc		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3	tolerated(0.4)		15/65		hmmpanther:PTHR11841,Superfamily_domains:SSF50939																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	100	103651667	103651667	T	A	1	0	0	0	0	1	0	0	0	13390	1638	57	4		4	RELN	7	103651667	Missense_Mutation	SNP	T	C3N-02424_TP	6645657	103651667	55694306	28	31417											
NEFM	0	.	GRCh38	chr8	24918383	24918384	+	Frame_Shift_Ins	INS	-	-	G																															agcccagcagatgaaaagaaINSggggggtgataaaagtgagg																								novel		C3N-02424_TP	C3N-02424_NB	-	-																c.2534dupG	p.Asp846Ter	p.D846*	ENST00000221166	3/3	325	304	21	534	532	2	varindel-pindel	NEFM,frameshift_variant,p.Asp846Ter,ENST00000221166,NM_005382.2;NEFM,frameshift_variant,p.Asp807Ter,ENST00000437366,;NEFM,frameshift_variant,p.Asp470Ter,ENST00000433454,NM_001105541.1;NEFM,frameshift_variant,p.Asp628Ter,ENST00000518131,;GS1-72M22.1,upstream_gene_variant,,ENST00000607058,;NEFM,non_coding_transcript_exon_variant,,ENST00000521540,;NEFM,downstream_gene_variant,,ENST00000523467,;	G	ENST00000221166	Transcript	frameshift_variant	3310-3311/4020	2528-2529/2751	843/916	K/KX	aag/aaGg		1		1	NEFM	HGNC	HGNC:7734	protein_coding	YES	CCDS6046.1	ENSP00000221166	P07197		UPI000013C7A9	NM_005382.2			3/3		Low_complexity_(Seg):seg																	HIGH	1	insertion	1	6		1										PASS		.	.												G	7	5	100	24918383	24918383	-	G	1	0	1	1	0	0	0	0	0	10344	72	3	0		0	NEFM	8	24918383	Frame_Shift_Ins	INS	-	C3N-02424_TP		24918383	120220253	29	31418											
PKIA	0	.	GRCh38	chr8	78598389	78598389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatatttggtagcaatgaCtgatgtggaaactacatatg	13	13	11	4	0	0	2	0	2	0	0	0	4	0	4	0	3	3	2	0	3	6	5			C3N-02424_TP	C3N-02424_NB	C	C																c.5C>T	p.Thr2Ile	p.T2I	ENST00000396418	3/4	62	58	4	98	98	0	strelka-varscan-mutect	PKIA,missense_variant,p.Thr2Ile,ENST00000396418,NM_006823.3,NM_181839.2;PKIA,missense_variant,p.Thr2Ile,ENST00000352966,;PKIA,missense_variant,p.Thr2Ile,ENST00000518467,;	T	ENST00000396418	Transcript	missense_variant	491/4163	5/231	2/76	T/I	aCt/aTt	COSM1101870	1		1	PKIA	HGNC	HGNC:9017	protein_coding	YES	CCDS6222.1	ENSP00000379696	P61925	A0A024R7Y9	UPI0000000298	NM_006823.3,NM_181839.2	deleterious(0)		3/4		PD010366,Pfam_domain:PF02827,PIRSF_domain:PIRSF001667,hmmpanther:PTHR15416,hmmpanther:PTHR15416:SF2											1						MODERATE	1	SNV	2		1	1										PASS		.	.												T	3	4	100	78598389	78598389	C	T	1	0	0	0	0	1	0	0	0	12069	565	20	3		3	PKIA	8	78598389	Missense_Mutation	SNP	C	C3N-02424_TP	53680006	78598389	66540247	30	31419											
PMP2	0	.	GRCh38	chr8	81444989	81444989	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctggtggctaaccccacaCctgaaaattaagatagtgtt	12	12	8	9	0	1	2	0	1	1	1	1	2	1	2	3	2	1	2	3	2	5	5	rs376781525		C3N-02424_TP	C3N-02424_NB	C	C																c.74G>C	p.Gly25Ala	p.G25A	ENST00000256103	2/4	76	71	5	80	80	0	varscan-mutect	PMP2,missense_variant,p.Gly25Ala,ENST00000256103,NM_002677.3;PMP2,intron_variant,,ENST00000519260,;RP11-157I4.4,intron_variant,,ENST00000524085,;	G	ENST00000256103	Transcript	missense_variant,splice_region_variant	211/3608	74/399	25/132	G/A	gGt/gCt	rs376781525	1		-1	PMP2	HGNC	HGNC:9117	protein_coding	YES	CCDS6229.1	ENSP00000256103	P02689		UPI000013CEEB	NM_002677.3	deleterious(0)		2/4		hmmpanther:PTHR11955:SF64,hmmpanther:PTHR11955,Gene3D:2.40.128.20,Pfam_domain:PF00061,Superfamily_domains:SSF50814,Prints_domain:PR00178																	MODERATE	1	SNV	1			1										PASS		rs376781525	.												G	3	3	100	81444989	81444989	C	G	1	0	0	0	0	1	0	0	0	12245	521	18	4		4	PMP2	8	81444989	Missense_Mutation	SNP	C	C3N-02424_TP	2846600	81444989	63693647	31	31420											
STOML2	0	.	GRCh38	chr9	35100643	35100643	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccagggttggagggcagtagGatagtgttggagtccttggc	7	10	18	6	0	0	0	0	0	0	0	1	3	1	3	2	6	0	4	2	6	2	5	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.888C>G	p.Ile296Met	p.I296M	ENST00000356493	9/10	300	280	20	371	371	0	strelka-varscan-mutect	STOML2,missense_variant,p.Ile251Met,ENST00000452248,NM_001287031.1;STOML2,missense_variant,p.Ile250Met,ENST00000619795,NM_001287033.1;STOML2,missense_variant,p.Ile296Met,ENST00000356493,NM_013442.2,NM_001287032.1;FAM214B,downstream_gene_variant,,ENST00000378561,;PIGO,upstream_gene_variant,,ENST00000378617,NM_032634.3;FAM214B,downstream_gene_variant,,ENST00000603301,NM_001317991.1;FAM214B,downstream_gene_variant,,ENST00000378557,;FAM214B,downstream_gene_variant,,ENST00000322813,NM_025182.2;FAM214B,downstream_gene_variant,,ENST00000605244,;FAM214B,downstream_gene_variant,,ENST00000488109,;PIGO,upstream_gene_variant,,ENST00000298004,NM_001201484.1;FAM214B,downstream_gene_variant,,ENST00000378566,;PIGO,upstream_gene_variant,,ENST00000361778,NM_152850.3;RP11-182N22.8,downstream_gene_variant,,ENST00000431804,;PIGO,upstream_gene_variant,,ENST00000492770,;PIGO,upstream_gene_variant,,ENST00000472208,;STOML2,downstream_gene_variant,,ENST00000487490,;STOML2,3_prime_UTR_variant,,ENST00000488050,;PIGO,upstream_gene_variant,,ENST00000474436,;PIGO,upstream_gene_variant,,ENST00000465745,;	C	ENST00000356493	Transcript	missense_variant	951/1278	888/1071	296/356	I/M	atC/atG		1		-1	STOML2	HGNC	HGNC:14559	protein_coding	YES	CCDS6577.1	ENSP00000348886	Q9UJZ1		UPI000006E47E	NM_013442.2,NM_001287032.1	tolerated(0.37)		9/10		hmmpanther:PTHR10264:SF27,hmmpanther:PTHR10264,Pfam_domain:PF16200																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	100	35100643	35100643	G	C	1	0	0	0	0	1	0	0	0	15693	1164	41	4		4	STOML2	9	35100643	Missense_Mutation	SNP	G	C3N-02424_TP		35100643	103294074	32	31421											
GLIPR2	0	.	GRCh38	chr9	36162481	36162481	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggggaatgttgtcaatGagggcttcttcgaagaaaac	12	9	13	7	2	2	2	1	1	1	1	3	4	2	3	0	3	2	2	0	3	5	3	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.424G>T	p.Glu142Ter	p.E142*	ENST00000377960	5/5	311	251	60	415	415	0	strelka-varscan-mutect	GLIPR2,stop_gained,p.Glu142Ter,ENST00000377960,NM_001287013.1,NM_022343.3,NM_001287011.1;GLIPR2,stop_gained,p.Glu60Ter,ENST00000619700,NM_001287014.1;GLIPR2,stop_gained,p.Glu116Ter,ENST00000377959,NM_001287010.1;GLIPR2,3_prime_UTR_variant,,ENST00000396613,NM_001287012.1;GLIPR2,non_coding_transcript_exon_variant,,ENST00000474050,;	T	ENST00000377960	Transcript	stop_gained	458/1890	424/465	142/154	E/*	Gag/Tag		1		1	GLIPR2	HGNC	HGNC:18007	protein_coding	YES	CCDS6598.1	ENSP00000367196	Q9H4G4		UPI000006DF50	NM_001287013.1,NM_022343.3,NM_001287011.1			5/5		Gene3D:3.40.33.10,hmmpanther:PTHR10334,Superfamily_domains:SSF55797																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	100	36162481	36162481	G	T	1	0	0	0	0	0	1	0	0	6322	1291	45	2		2	GLIPR2	9	36162481	Nonsense_Mutation	SNP	G	C3N-02424_TP	1061838	36162481	102232236	33	31422											
INPP5E	0	.	GRCh38	chr9	136429709	136429709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggtgctggagttctgaCtctgtagtgcttgctgcctc	5	14	13	9	0	2	2	0	1	2	1	3	3	2	3	1	2	4	5	1	2	1	3	novel		C3N-02424_TP	C3N-02424_NB	C	C																c.1901G>T	p.Ser634Ile	p.S634I	ENST00000371712	10/10	385	332	53	547	547	0	strelka-varscan-mutect	INPP5E,missense_variant,p.Ser634Ile,ENST00000371712,NM_001318502.1,NM_019892.4;	A	ENST00000371712	Transcript	missense_variant	2304/3394	1901/1935	634/644	S/I	aGt/aTt		1		-1	INPP5E	HGNC	HGNC:21474	protein_coding	YES	CCDS7000.1	ENSP00000360777	Q9NRR6		UPI000014053C	NM_001318502.1,NM_019892.4	deleterious(0.05)		10/10																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	100	136429709	136429709	C	A	1	0	0	0	0	1	0	0	0	7660	565	20	2		2	INPP5E	9	136429709	Missense_Mutation	SNP	C	C3N-02424_TP	100267228	136429709	1965008	34	31423											
MALRD1	0	.	GRCh38	chr10	19531325	19531325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctggttctacatgattGatcccaggagtatgggaata	10	13	12	6	0	2	2	0	2	2	0	3	4	3	4	1	4	1	3	1	4	4	6	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.5452G>T	p.Asp1818Tyr	p.D1818Y	ENST00000454679	32/40	66	54	12	104	104	0	strelka-mutect	MALRD1,missense_variant,p.Asp1818Tyr,ENST00000454679,NM_001142308.2;MALRD1,missense_variant,p.Asp1197Tyr,ENST00000377266,;MALRD1,missense_variant,p.Asp169Tyr,ENST00000377265,;MALRD1,downstream_gene_variant,,ENST00000492202,;	T	ENST00000454679	Transcript	missense_variant	5620/6880	5452/6471	1818/2156	D/Y	Gat/Tat		1		1	MALRD1	HGNC	HGNC:24331	protein_coding	YES	CCDS73071.1	ENSP00000412763	Q5VYJ5		UPI000387C99A	NM_001142308.2	deleterious(0.01)		32/40		PROSITE_profiles:PS50060,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF86,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	100	19531325	19531325	G	T	1	0	0	0	0	1	0	0	0	9121	1290	45	2		2	MALRD1	10	19531325	Missense_Mutation	SNP	G	C3N-02424_TP		19531325	114266097	35	31424											
CRTAC1	0	.	GRCh38	chr10	97936338	97936338	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgcttctgggcccggtcatActtcagaaccaggttgggtc	6	10	12	13	2	3	1	2	0	1	1	4	1	3	1	3	4	2	2	3	4	2	4	novel		C3N-02424_TP	C3N-02424_NB	A	A																c.253T>A	p.Tyr85Asn	p.Y85N	ENST00000370597	3/15	75	62	13	89	89	0	strelka-varscan-mutect	CRTAC1,missense_variant,p.Tyr85Asn,ENST00000370597,NM_018058.6;CRTAC1,missense_variant,p.Tyr85Asn,ENST00000370591,NM_001206528.2;CRTAC1,missense_variant,p.Tyr77Asn,ENST00000309155,;CRTAC1,upstream_gene_variant,,ENST00000413387,;	T	ENST00000370597	Transcript	missense_variant	609/2890	253/1986	85/661	Y/N	Tat/Aat		1		-1	CRTAC1	HGNC	HGNC:14882	protein_coding	YES	CCDS31266.1	ENSP00000359629	Q9NQ79		UPI000006D454	NM_018058.6	deleterious(0)		3/15		Pfam_domain:PF13517,hmmpanther:PTHR16026,hmmpanther:PTHR16026:SF4,Superfamily_domains:SSF69318																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	100	97936338	97936338	A	T	1	0	0	0	0	1	0	0	0	3698	391	14	4		4	CRTAC1	10	97936338	Missense_Mutation	SNP	A	C3N-02424_TP	78405013	97936338	35861084	36	31425											
OTOG	0	.	GRCh38	chr11	17642200	17642200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtgccgtgctggtccGctctcccataagctgcccac	4	9	11	17	2	1	0	0	0	1	0	3	0	2	0	5	2	4	3	5	2	1	1	rs117315845		C3N-02424_TP	C3N-02424_NB	G	G																c.8405G>T	p.Arg2802Leu	p.R2802L	ENST00000399391	52/55	97	91	6	138	138	0	strelka-varscan-mutect	OTOG,missense_variant,p.Arg2790Leu,ENST00000399397,NM_001292063.1;OTOG,missense_variant,p.Arg2802Leu,ENST00000399391,NM_001277269.1;OTOG,downstream_gene_variant,,ENST00000342528,;	T	ENST00000399391	Transcript	missense_variant	8405/8778	8405/8778	2802/2925	R/L	cGc/cTc	rs117315845	1		1	OTOG	HGNC	HGNC:8516	protein_coding	YES	CCDS76390.1	ENSP00000382323	Q6ZRI0		UPI0001662628	NM_001277269.1	tolerated(0.26)		52/55		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF228																	MODERATE	1	SNV	5			1										PASS		rs117315845	.												T	3	4	100	17642200	17642200	G	T	1	0	0	0	0	1	0	0	0	11370	1087	38	1		1	OTOG	11	17642200	Missense_Mutation	SNP	G	C3N-02424_TP		17642200	117444422	37	31426											
FERMT3	0	.	GRCh38	chr11	64207430	64207430	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggagctgcgggtgtttgtGggagaggaggacccagaggc	7	7	21	6	1	0	2	0	0	0	2	0	6	0	5	1	6	2	2	1	6	0	1	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.66G>A	p.=	p.V22V	ENST00000279227	2/15	155	133	22	170	169	1	strelka-varscan-mutect	FERMT3,synonymous_variant,p.=,ENST00000279227,NM_178443.2;FERMT3,synonymous_variant,p.=,ENST00000345728,NM_031471.5;FERMT3,synonymous_variant,p.=,ENST00000544997,;STIP1,downstream_gene_variant,,ENST00000358794,NM_001282652.1;STIP1,downstream_gene_variant,,ENST00000305218,NM_006819.2;STIP1,downstream_gene_variant,,ENST00000538945,NM_001282653.1;STIP1,downstream_gene_variant,,ENST00000540887,;FERMT3,upstream_gene_variant,,ENST00000541252,;FERMT3,upstream_gene_variant,,ENST00000541326,;STIP1,downstream_gene_variant,,ENST00000536973,;FERMT3,upstream_gene_variant,,ENST00000546255,;STIP1,downstream_gene_variant,,ENST00000355603,;	A	ENST00000279227	Transcript	synonymous_variant	161/2489	66/2004	22/667	V	gtG/gtA		1		1	FERMT3	HGNC	HGNC:23151	protein_coding	YES	CCDS8060.1	ENSP00000279227	Q86UX7		UPI000019270B	NM_178443.2			2/15		hmmpanther:PTHR16160,hmmpanther:PTHR16160:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	100	64207430	64207430	G	A	1	0	0	0	0	0	0	0	1	5682	1335	47	3		3	FERMT3	11	64207430	Silent	SNP	G	C3N-02424_TP	46565230	64207430	70879192	38	31427											
PLCB3	0	.	GRCh38	chr11	64259223	64259223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgagagctccgcggccaccGagccctcctccccgcagctg	5	4	12	20	5	0	1	0	0	0	1	3	3	3	1	7	1	3	3	7	1	0	0	rs370491975		C3N-02424_TP	C3N-02424_NB	G	G																c.1504G>A	p.Glu502Lys	p.E502K	ENST00000540288	13/32	41	37	4	56	56	0	strelka-varscan-mutect	PLCB3,missense_variant,p.Glu502Lys,ENST00000540288,NM_001316314.1,NM_000932.2;PLCB3,missense_variant,p.Glu502Lys,ENST00000279230,;PLCB3,missense_variant,p.Glu435Lys,ENST00000325234,NM_001184883.1;PLCB3,upstream_gene_variant,,ENST00000536243,;	A	ENST00000540288	Transcript	missense_variant	1607/4469	1504/3705	502/1234	E/K	Gag/Aag	rs370491975	1		1	PLCB3	HGNC	HGNC:9056	protein_coding	YES	CCDS8064.1	ENSP00000443631	Q01970		UPI0000131AFF	NM_001316314.1,NM_000932.2	tolerated(0.1)		13/32		Low_complexity_(Seg):seg,hmmpanther:PTHR10336:SF11,hmmpanther:PTHR10336,PIRSF_domain:PIRSF000956																	MODERATE	1	SNV	1			1										PASS		rs370491975	.												A	3	1	100	64259223	64259223	G	A	1	0	0	0	0	1	0	0	0	12123	1059	37	1		1	PLCB3	11	64259223	Missense_Mutation	SNP	G	C3N-02424_TP	51793	64259223	70827399	39	31428											
MMP10	0	.	GRCh38	chr11	102779240	102779240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaaaagagatcattatatCagcctctccttcatacagcc	13	11	5	12	0	4	1	3	0	1	1	5	2	4	1	3	0	4	1	3	0	5	4	novel		C3N-02424_TP	C3N-02424_NB	C	C																c.469G>A	p.Asp157Asn	p.D157N	ENST00000279441	3/10	208	170	38	203	203	0	strelka-varscan-mutect	MMP10,missense_variant,p.Asp157Asn,ENST00000279441,NM_002425.2;MMP10,missense_variant,p.Asp157Asn,ENST00000539681,;WTAPP1,intron_variant,,ENST00000371455,;WTAPP1,upstream_gene_variant,,ENST00000525739,;WTAPP1,upstream_gene_variant,,ENST00000544704,;	T	ENST00000279441	Transcript	missense_variant	506/1758	469/1431	157/476	D/N	Gat/Aat		1		-1	MMP10	HGNC	HGNC:7156	protein_coding	YES	CCDS8321.1	ENSP00000279441	P09238		UPI00000422C0	NM_002425.2	deleterious(0)		3/10		Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,Prints_domain:PR00138,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF153,SMART_domains:SM00235,Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	100	102779240	102779240	C	T	1	0	0	0	0	1	0	0	0	9612	826	29	3		3	MMP10	11	102779240	Missense_Mutation	SNP	C	C3N-02424_TP	38520017	102779240	32307382	40	31429											
MMP10	0	.	GRCh38	chr11	102779307	102779307	+	Silent	SNP	C	C	T																															tcccagactttcagagctttCtcaatggcagaatcaacagc																								novel		C3N-02424_TP	C3N-02424_NB	C	C																c.402G>A	p.=	p.E134E	ENST00000279441	3/10	289	230	59	300	300	0	strelka-varscan-mutect	MMP10,synonymous_variant,p.=,ENST00000279441,NM_002425.2;MMP10,synonymous_variant,p.=,ENST00000539681,;WTAPP1,intron_variant,,ENST00000371455,;WTAPP1,upstream_gene_variant,,ENST00000525739,;WTAPP1,upstream_gene_variant,,ENST00000544704,;	T	ENST00000279441	Transcript	synonymous_variant	439/1758	402/1431	134/476	E	gaG/gaA		1		-1	MMP10	HGNC	HGNC:7156	protein_coding	YES	CCDS8321.1	ENSP00000279441	P09238		UPI00000422C0	NM_002425.2			3/10		Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,Prints_domain:PR00138,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF153,SMART_domains:SM00235,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	100	102779307	102779307	C	T	1	0	0	0	0	0	0	0	1	9612	912	32	3		3	MMP10	11	102779307	Silent	SNP	C	C3N-02424_TP	67	102779307	32307315	41	31430	641	2									
MMP10	0	.	GRCh38	chr11	102779309	102779309	+	Missense_Mutation	SNP	C	C	T																															ccagactttcagagctttctCaatggcagaatcaacagcat																								rs142065601		C3N-02424_TP	C3N-02424_NB	C	C																c.400G>A	p.Glu134Lys	p.E134K	ENST00000279441	3/10	293	233	60	298	298	0	strelka-varscan-mutect	MMP10,missense_variant,p.Glu134Lys,ENST00000279441,NM_002425.2;MMP10,missense_variant,p.Glu134Lys,ENST00000539681,;WTAPP1,intron_variant,,ENST00000371455,;WTAPP1,upstream_gene_variant,,ENST00000525739,;WTAPP1,upstream_gene_variant,,ENST00000544704,;	T	ENST00000279441	Transcript	missense_variant	437/1758	400/1431	134/476	E/K	Gag/Aag	rs142065601,COSM3442707	1		-1	MMP10	HGNC	HGNC:7156	protein_coding	YES	CCDS8321.1	ENSP00000279441	P09238		UPI00000422C0	NM_002425.2	tolerated(0.32)		3/10		Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,Prints_domain:PR00138,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF153,SMART_domains:SM00235,Superfamily_domains:SSF55486											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs142065601	.												T	3	4	100	102779309	102779309	C	T	1	0	0	0	0	1	0	0	0	9612	835	29	3		3	MMP10	11	102779309	Missense_Mutation	SNP	C	C3N-02424_TP	2	102779309	32307313	42	31431	641	2									
MMP3	0	.	GRCh38	chr11	102842529	102842529	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agactttcagagctttctcaAcagcagaatcaacagcatct	14	10	6	11	0	4	3	3	0	2	3	5	3	4	3	0	0	5	3	0	0	3	2	novel		C3N-02424_TP	C3N-02424_NB	A	A																c.401T>C	p.Val134Ala	p.V134A	ENST00000299855	3/10	283	125	158	246	246	0	strelka-varscan-mutect	MMP3,missense_variant,p.Val134Ala,ENST00000299855,NM_002422.3;MMP3,upstream_gene_variant,,ENST00000434103,;MMP3,3_prime_UTR_variant,,ENST00000524478,;	G	ENST00000299855	Transcript	missense_variant	658/2016	401/1434	134/477	V/A	gTt/gCt		1		-1	MMP3	HGNC	HGNC:7173	protein_coding	YES	CCDS8323.1	ENSP00000299855	P08254		UPI00000422BF	NM_002422.3	deleterious(0)		3/10		hmmpanther:PTHR10201:SF164,hmmpanther:PTHR10201,PIRSF_domain:PIRSF001191,Pfam_domain:PF00413,Gene3D:3.40.390.10,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	100	102842529	102842529	A	G	1	0	0	0	0	1	0	0	0	9629	43	2	5		5	MMP3	11	102842529	Missense_Mutation	SNP	A	C3N-02424_TP	63220	102842529	32244093	43	31432											
PDE3A	0	.	GRCh38	chr12	20369551	20369551	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggtcggctgtgacctGgagcagtgtaaggaggcggc	7	6	21	7	2	0	1	0	1	0	0	1	4	0	4	1	8	1	3	1	8	1	1	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.267G>A	p.=	p.L89L	ENST00000359062	1/16	68	53	15	103	103	0	strelka-varscan-mutect	PDE3A,synonymous_variant,p.=,ENST00000359062,NM_000921.4,NM_001244683.1;RP11-284H19.1,intron_variant,,ENST00000535755,;PDE3A,upstream_gene_variant,,ENST00000542675,;	A	ENST00000359062	Transcript	synonymous_variant	307/7576	267/3426	89/1141	L	ctG/ctA		1		1	PDE3A	HGNC	HGNC:8778	protein_coding	YES	CCDS31754.1	ENSP00000351957	Q14432		UPI000014175F	NM_000921.4,NM_001244683.1			1/16																			LOW	1	SNV	1			1										PASS		.	.												A	2	1	100	20369551	20369551	G	A	1	0	0	0	0	0	0	0	1	11725	1335	47	3		3	PDE3A	12	20369551	Silent	SNP	G	C3N-02424_TP		20369551	112905758	44	31433											
DDX11	0	.	GRCh38	chr12	31085103	31085103	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccgaatacgagagtgaTgaggagaaaaaggtggcgag	14	5	16	6	4	0	4	0	2	0	2	1	8	0	4	1	3	1	0	1	3	4	1	rs778843332		C3N-02424_TP	C3N-02424_NB	T	T																c.615T>C	p.=	p.D205D	ENST00000545668	5/27	384	332	52	521	521	0	varscan-mutect	DDX11,synonymous_variant,p.=,ENST00000545668,NM_152438.1,NM_001257144.1;DDX11,synonymous_variant,p.=,ENST00000350437,NM_004399.2;DDX11,synonymous_variant,p.=,ENST00000228264,NM_001257145.1;DDX11,synonymous_variant,p.=,ENST00000542838,NM_030653.3;DDX11,synonymous_variant,p.=,ENST00000438391,;DDX11,synonymous_variant,p.=,ENST00000415475,;DDX11,intron_variant,,ENST00000544652,;DDX11,downstream_gene_variant,,ENST00000535317,;DDX11,upstream_gene_variant,,ENST00000545717,;DDX11,synonymous_variant,p.=,ENST00000435753,;DDX11,synonymous_variant,p.=,ENST00000539049,;DDX11,synonymous_variant,p.=,ENST00000542129,;DDX11,synonymous_variant,p.=,ENST00000540935,;DDX11,3_prime_UTR_variant,,ENST00000542244,;DDX11,non_coding_transcript_exon_variant,,ENST00000536265,;DDX11,non_coding_transcript_exon_variant,,ENST00000535158,;DDX11,intron_variant,,ENST00000538345,;DDX11,upstream_gene_variant,,ENST00000543026,;DDX11,upstream_gene_variant,,ENST00000542242,;DDX11,downstream_gene_variant,,ENST00000543756,;	C	ENST00000545668	Transcript	synonymous_variant	695/3751	615/2913	205/970	D	gaT/gaC	rs778843332	1		1	DDX11	HGNC	HGNC:2736	protein_coding	YES	CCDS44856.1	ENSP00000440402	Q96FC9		UPI000006F88F	NM_152438.1,NM_001257144.1			5/27		PROSITE_profiles:PS51193,hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF36,SMART_domains:SM00488,TIGRFAM_domain:TIGR00604																	LOW	1	SNV	1			1										PASS		rs778843332	.												C	2	2	100	31085103	31085103	T	C	1	0	0	0	0	0	0	0	1	4147	1461	51	5		5	DDX11	12	31085103	Silent	SNP	T	C3N-02424_TP	10715552	31085103	102190206	45	31434											
KRT85	0	.	GRCh38	chr12	52364160	52364160	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggtaggcacagtccaCgtcctggccgtgggacaaag	9	5	14	13	3	0	0	0	0	0	0	2	1	2	1	4	4	0	3	4	4	2	1	rs764225566		C3N-02424_TP	C3N-02424_NB	C	C																c.694G>T	p.Val232Leu	p.V232L	ENST00000257901	4/9	564	482	82	656	656	0	strelka-varscan-mutect	KRT85,missense_variant,p.Val232Leu,ENST00000257901,NM_002283.3;KRT85,missense_variant,p.Val20Leu,ENST00000544265,NM_001300810.1;KRT85,non_coding_transcript_exon_variant,,ENST00000552537,;	A	ENST00000257901	Transcript	missense_variant	770/2447	694/1524	232/507	V/L	Gtg/Ttg	rs764225566	1		-1	KRT85	HGNC	HGNC:6462	protein_coding	YES	CCDS8824.1	ENSP00000257901	P78386		UPI000006EB3B	NM_002283.3	deleterious(0)		4/9		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF113,SMART_domains:SM01391																	MODERATE	1	SNV	1			1										PASS		rs764225566	.												A	3	1	100	52364160	52364160	C	A	1	0	0	0	0	1	0	0	0	8381	550	19	1		1	KRT85	12	52364160	Missense_Mutation	SNP	C	C3N-02424_TP	21279057	52364160	80911149	46	31435											
KIAA1033	0	.	GRCh38	chr12	105127195	105127195	+	Frame_Shift_Del	DEL	C	C	-																															attttctgatccagaaaataCcagcagctgccaaactgcta																								rs371244423		C3N-02424_TP	C3N-02424_NB	C	C																c.1106delC	p.Pro369GlnfsTer7	p.P369Qfs*7	ENST00000620430	13/33	158	145	13	311	311	0	varindel-pindel	KIAA1033,frameshift_variant,p.Pro369GlnfsTer7,ENST00000332180,NM_015275.2;KIAA1033,frameshift_variant,p.Pro369GlnfsTer7,ENST00000620430,NM_001293640.1;KIAA1033,3_prime_UTR_variant,,ENST00000550053,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000311317,;KIAA1033,downstream_gene_variant,,ENST00000547404,;	-	ENST00000620430	Transcript	frameshift_variant	1192/5807	1105/3525	369/1174	P/X	Cca/ca	rs371244423	1		1	KIAA1033	HGNC	HGNC:29174	protein_coding	YES	CCDS73514.1	ENSP00000484713		A0A087X256	UPI000387C216	NM_001293640.1			13/33		Pfam_domain:PF14745,hmmpanther:PTHR31409,hmmpanther:PTHR31409:SF0																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	100	105127195	105127195	C	-	1	0	1	0	1	0	0	0	0	8099	507	18	0		0	KIAA1033	12	105127195	Frame_Shift_Del	DEL	C	C3N-02424_TP	52763035	105127195	28148114	47	31436											
TBX3	0	.	GRCh38	chr12	114674667	114674667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagccgcccgctgtccCggggccgctcagcagcgaaa	6	5	13	17	5	1	0	1	0	0	0	3	1	3	0	5	2	3	3	5	2	1	0	rs145432134		C3N-02424_TP	C3N-02424_NB	C	C																c.1268G>T	p.Arg423Leu	p.R423L	ENST00000257566	7/8	183	151	32	219	219	0	strelka-varscan-mutect	TBX3,missense_variant,p.Arg403Leu,ENST00000349155,NM_005996.3;TBX3,missense_variant,p.Arg423Leu,ENST00000257566,NM_016569.3;TBX3,downstream_gene_variant,,ENST00000548503,;	A	ENST00000257566	Transcript	missense_variant	1658/4208	1268/2232	423/743	R/L	cGg/cTg	rs145432134	1		-1	TBX3	HGNC	HGNC:11602	protein_coding	YES	CCDS9176.1	ENSP00000257566	O15119	A0A024RBL6	UPI0000136AA0	NM_016569.3	deleterious(0.02)		7/8		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF91																	MODERATE	1	SNV	1			1										PASS		rs145432134	.												A	3	1	100	114674667	114674667	C	A	1	0	0	0	0	1	0	0	0	16064	652	23	1		1	TBX3	12	114674667	Missense_Mutation	SNP	C	C3N-02424_TP	9547472	114674667	18600642	48	31437											
HPD	0	.	GRCh38	chr12	121854704	121854704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccaaagggaactcaccGtctgcagcacagcaaacttc	13	5	9	14	1	2	0	1	0	1	0	3	1	2	1	2	2	5	4	2	2	3	1	rs762065329		C3N-02424_TP	C3N-02424_NB	G	G																c.413C>T	p.Thr138Met	p.T138M	ENST00000289004	7/14	326	285	41	371	371	0	strelka-varscan-mutect	HPD,missense_variant,p.Thr99Met,ENST00000543163,NM_001171993.1;HPD,missense_variant,p.Thr138Met,ENST00000289004,NM_002150.2;RP11-7M8.2,upstream_gene_variant,,ENST00000543848,;HPD,splice_region_variant,,ENST00000542159,;HPD,downstream_gene_variant,,ENST00000535114,;	A	ENST00000289004	Transcript	missense_variant,splice_region_variant	449/1419	413/1182	138/393	T/M	aCg/aTg	rs762065329,COSM1359524	1		-1	HPD	HGNC	HGNC:5147	protein_coding	YES	CCDS9224.1	ENSP00000289004		A0A0B4J1R4	UPI0000366920	NM_002150.2	deleterious(0)		7/14		Gene3D:3.10.180.10,PIRSF_domain:PIRSF009283,hmmpanther:PTHR11959,hmmpanther:PTHR11959:SF9,Superfamily_domains:SSF54593,TIGRFAM_domain:TIGR01263											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs762065329	.												A	3	1	100	121854704	121854704	G	A	1	0	0	0	0	1	0	0	0	7226	1159	40	1		1	HPD	12	121854704	Missense_Mutation	SNP	G	C3N-02424_TP	7180037	121854704	11420605	49	31438											
ARHGAP5	0	.	GRCh38	chr14	32152521	32152521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagatacgtgataacacatCtaaacaggtatttttatttt	14	16	5	6	1	2	2	1	1	1	1	2	2	2	2	0	1	3	1	0	1	6	9	novel		C3N-02424_TP	C3N-02424_NB	C	C																c.4174C>T	p.=	p.L1392L	ENST00000345122	6/7	60	55	5	133	133	0	varscan-mutect	ARHGAP5,synonymous_variant,p.=,ENST00000345122,NM_001030055.1;ARHGAP5,synonymous_variant,p.=,ENST00000396582,;ARHGAP5,synonymous_variant,p.=,ENST00000432921,;ARHGAP5,synonymous_variant,p.=,ENST00000539826,;ARHGAP5,synonymous_variant,p.=,ENST00000556611,NM_001173.2;ARHGAP5,synonymous_variant,p.=,ENST00000433497,;ARHGAP5,synonymous_variant,p.=,ENST00000554090,;ARHGAP5,3_prime_UTR_variant,,ENST00000557643,;ARHGAP5,upstream_gene_variant,,ENST00000216743,;	T	ENST00000345122	Transcript	synonymous_variant	4489/9604	4174/4509	1392/1502	L	Cta/Tta		1		1	ARHGAP5	HGNC	HGNC:675	protein_coding	YES	CCDS32062.1	ENSP00000371897	Q13017		UPI000057B85C	NM_001030055.1			6/7		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4,SMART_domains:SM00324,Superfamily_domains:SSF48350																	LOW	1	SNV	5			1										PASS		rs1374270897	.												T	2	4	100	32152521	32152521	C	T	1	0	0	0	0	0	0	0	1	1016	912	32	3		3	ARHGAP5	14	32152521	Silent	SNP	C	C3N-02424_TP		32152521	74891197	50	31439											
MAP4K5	0	.	GRCh38	chr14	50482365	50482365	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagaaaatatagtacctgtAaggtttctctgcatacatag	15	13	7	6	0	1	1	0	0	1	1	2	1	1	1	1	1	3	4	1	1	9	8	novel		C3N-02424_TP	C3N-02424_NB	A	A																c.374T>A	p.Leu125Ter	p.L125*	ENST00000013125	6/32	80	75	5	135	134	1	varscan-mutect	MAP4K5,stop_gained,p.Leu125Ter,ENST00000013125,NM_198794.2,NM_006575.4;MAP4K5,stop_gained,p.Leu58Ter,ENST00000555216,;MAP4K5,stop_gained,p.Leu125Ter,ENST00000557390,;MAP4K5,non_coding_transcript_exon_variant,,ENST00000557578,;MAP4K5,non_coding_transcript_exon_variant,,ENST00000557210,;MAP4K5,intron_variant,,ENST00000554091,;MAP4K5,downstream_gene_variant,,ENST00000554066,;	T	ENST00000013125	Transcript	stop_gained	693/4354	374/2541	125/846	L/*	tTa/tAa		1		-1	MAP4K5	HGNC	HGNC:6867	protein_coding	YES		ENSP00000013125		A0A0A0MQR1	UPI00015DFDAA	NM_198794.2,NM_006575.4			6/32		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF038172,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF324,SMART_domains:SM00220,Superfamily_domains:SSF56112																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	100	50482365	50482365	A	T	1	0	0	0	0	0	1	0	0	9187	376	13	4		4	MAP4K5	14	50482365	Nonsense_Mutation	SNP	A	C3N-02424_TP	18329844	50482365	56561353	51	31440											
TSHR	0	.	GRCh38	chr14	81143146	81143146	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaacaagaggatgagaTcattggttttggccaggagc	13	9	14	5	0	1	4	1	2	0	3	1	7	1	6	1	4	2	1	1	4	3	3	rs777555037		C3N-02424_TP	C3N-02424_NB	T	T																c.1088T>C	p.Ile363Thr	p.I363T	ENST00000541158	11/11	420	379	41	811	810	1	strelka-varscan-mutect	TSHR,missense_variant,p.Ile363Thr,ENST00000541158,;TSHR,missense_variant,p.Ile363Thr,ENST00000298171,NM_000369.2;RP11-114N19.3,intron_variant,,ENST00000557775,;TSHR,non_coding_transcript_exon_variant,,ENST00000636454,;TSHR,upstream_gene_variant,,ENST00000637447,;	C	ENST00000541158	Transcript	missense_variant	1410/4566	1088/2295	363/764	I/T	aTc/aCc	rs777555037	1		1	TSHR	HGNC	HGNC:12373	protein_coding	YES	CCDS9872.1	ENSP00000441235		A0A0A0MTJ0	UPI000013E4A2		tolerated(0.68)		11/11		Prints_domain:PR01145,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF0																	MODERATE		SNV	5			1										PASS		rs777555037	.												C	3	2	100	81143146	81143146	T	C	1	0	0	0	0	1	0	0	0	17127	1435	50	5		5	TSHR	14	81143146	Missense_Mutation	SNP	T	C3N-02424_TP	30660781	81143146	25900572	52	31441											
TLN2	0	.	GRCh38	chr15	62657870	62657870	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tacaatttggacctcatgtgGaacataaacacaaacctgga	16	9	7	9	0	1	0	1	0	0	0	1	3	1	3	2	3	4	0	2	3	6	3	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.760G>C	p.Glu254Gln	p.E254Q	ENST00000561311	8/58	159	149	10	251	251	0	strelka-varscan-mutect	TLN2,missense_variant,p.Glu254Gln,ENST00000561311,NM_015059.2;TLN2,intron_variant,,ENST00000636159,;TLN2,non_coding_transcript_exon_variant,,ENST00000474847,;	C	ENST00000561311	Transcript	missense_variant	990/11880	760/7629	254/2542	E/Q	Gaa/Caa		1		1	TLN2	HGNC	HGNC:15447	protein_coding	YES	CCDS32261.1	ENSP00000453508	Q9Y4G6		UPI00001FE5FC	NM_015059.2	deleterious(0)		8/58		PROSITE_profiles:PS50057,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15,Gene3D:1.20.80.10,Pfam_domain:PF00373,SMART_domains:SM00295,Superfamily_domains:SSF47031																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	100	62657870	62657870	G	C	1	0	0	0	0	1	0	0	0	16394	1175	41	4		4	TLN2	15	62657870	Missense_Mutation	SNP	G	C3N-02424_TP		62657870	39333319	53	31442											
NPTN	0	.	GRCh38	chr15	73573734	73573734	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaactgacttgcaatacatAgtggcatcctgcccttcatt	10	12	6	13	0	1	1	1	1	0	0	2	1	2	1	3	1	4	2	3	1	4	5	novel		C3N-02424_TP	C3N-02424_NB	A	A																c.768T>C	p.=	p.T256T	ENST00000345330	5/9	100	88	12	119	119	0	strelka-mutect	NPTN,synonymous_variant,p.=,ENST00000351217,NM_017455.3;NPTN,synonymous_variant,p.=,ENST00000345330,NM_012428.3;NPTN,synonymous_variant,p.=,ENST00000565282,;NPTN,synonymous_variant,p.=,ENST00000563691,NM_001161363.1;NPTN,synonymous_variant,p.=,ENST00000562924,NM_001161364.1;NPTN,synonymous_variant,p.=,ENST00000565325,;NPTN-IT1,upstream_gene_variant,,ENST00000628401,;NPTN,non_coding_transcript_exon_variant,,ENST00000564551,;	G	ENST00000345330	Transcript	synonymous_variant	966/2444	768/1197	256/398	T	acT/acC		1		-1	NPTN	HGNC	HGNC:17867	protein_coding	YES	CCDS10249.1	ENSP00000290401	Q9Y639		UPI0000072D5C	NM_012428.3			5/9		PROSITE_profiles:PS50835,hmmpanther:PTHR10075:SF5,hmmpanther:PTHR10075,PIRSF_domain:PIRSF000615,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	100	73573734	73573734	A	G	1	0	0	0	0	0	0	0	1	10657	407	15	5		5	NPTN	15	73573734	Silent	SNP	A	C3N-02424_TP	10915864	73573734	28417455	54	31443											
SALL1	0	.	GRCh38	chr16	51140468	51140468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgactgagcctggggggctgGtggcagaatggctgatgggg	6	8	21	6	0	0	4	0	3	0	1	0	4	0	4	1	8	1	3	1	8	1	0	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.1754C>A	p.Thr585Asn	p.T585N	ENST00000251020	2/3	85	69	16	132	132	0	strelka-varscan-mutect	SALL1,missense_variant,p.Thr488Asn,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Thr585Asn,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Thr488Asn,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,downstream_gene_variant,,ENST00000562674,;	T	ENST00000251020	Transcript	missense_variant	1788/5146	1754/3975	585/1324	T/N	aCc/aAc		1		-1	SALL1	HGNC	HGNC:10524	protein_coding	YES	CCDS10747.1	ENSP00000251020	Q9NSC2		UPI000013CCD8	NM_002968.2	tolerated(0.52)		2/3		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	100	51140468	51140468	G	T	1	0	0	0	0	1	0	0	0	14069	1261	44	2		2	SALL1	16	51140468	Missense_Mutation	SNP	G	C3N-02424_TP		51140468	39197877	55	31444											
CLEC18B	0	.	GRCh38	chr16	74413639	74413639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgcagagcacaggtgcCgcccacagcccagctggctt	7	5	13	16	1	0	1	0	0	0	1	0	1	0	1	4	3	5	4	4	3	0	1	rs58016779		C3N-02424_TP	C3N-02424_NB	C	C																c.494G>A	p.Arg165Gln	p.R165Q	ENST00000339953	4/13	510	439	71	627	627	0	strelka-varscan-mutect	CLEC18B,missense_variant,p.Arg165Gln,ENST00000617101,;CLEC18B,missense_variant,p.Arg165Gln,ENST00000619275,;CLEC18B,missense_variant,p.Arg165Gln,ENST00000339953,NM_001011880.2;CLEC18B,missense_variant,p.Arg165Gln,ENST00000620745,;CLEC18B,non_coding_transcript_exon_variant,,ENST00000425714,;CLEC18B,upstream_gene_variant,,ENST00000564842,;	T	ENST00000339953	Transcript	missense_variant	616/1865	494/1368	165/455	R/Q	cGg/cAg	rs58016779,COSM116727	1		-1	CLEC18B	HGNC	HGNC:33849	protein_coding	YES	CCDS32484.1	ENSP00000341051	Q6UXF7		UPI000025210E	NM_001011880.2	tolerated(0.37)		4/13		Gene3D:3.40.33.10,Pfam_domain:PF00188,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF245,SMART_domains:SM00198,Superfamily_domains:SSF55797											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs58016779	.												T	3	4	100	74413639	74413639	C	T	1	0	0	0	0	1	0	0	0	3269	652	23	1		1	CLEC18B	16	74413639	Missense_Mutation	SNP	C	C3N-02424_TP	23273171	74413639	15924706	56	31445											
TP53	0	.	GRCh38	chr17	7674899	7674900	+	Frame_Shift_Del	DEL	GT	GT	-																															ccaccacactatgtcgaaaaGtgtttctgtcatccaaatac																										C3N-02424_TP	C3N-02424_NB	GT	GT																c.631_632delAC	p.Thr211PhefsTer4	p.T211Ffs*4	ENST00000269305	6/11	406	370	36	564	564	0	sindel-varindel-pindel	TP53,frameshift_variant,p.Thr211PhefsTer4,ENST00000617185,NM_001126114.2;TP53,frameshift_variant,p.Thr211PhefsTer4,ENST00000420246,;TP53,frameshift_variant,p.Thr172PhefsTer4,ENST00000622645,NM_001276696.1;TP53,frameshift_variant,p.Thr172PhefsTer4,ENST00000610292,NM_001126118.1;TP53,frameshift_variant,p.Thr211PhefsTer4,ENST00000455263,NM_001126113.2;TP53,frameshift_variant,p.Thr172PhefsTer4,ENST00000610538,NM_001276695.1;TP53,frameshift_variant,p.Thr211PhefsTer4,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,frameshift_variant,p.Thr172PhefsTer4,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,frameshift_variant,p.Thr211PhefsTer4,ENST00000445888,;TP53,frameshift_variant,p.Thr172PhefsTer4,ENST00000619485,;TP53,frameshift_variant,p.Thr79PhefsTer4,ENST00000510385,NM_001126116.1;TP53,frameshift_variant,p.Thr52PhefsTer4,ENST00000618944,NM_001276698.1;TP53,frameshift_variant,p.Thr79PhefsTer4,ENST00000504290,NM_001126117.1;TP53,frameshift_variant,p.Thr52PhefsTer4,ENST00000610623,NM_001276699.1;TP53,frameshift_variant,p.Thr79PhefsTer4,ENST00000504937,NM_001126115.1;TP53,frameshift_variant,p.Thr52PhefsTer4,ENST00000619186,NM_001276697.1;TP53,frameshift_variant,p.Thr211PhefsTer4,ENST00000359597,;TP53,frameshift_variant,p.Thr200PhefsTer4,ENST00000615910,;TP53,frameshift_variant,p.Thr211PhefsTer4,ENST00000413465,;TP53,frameshift_variant,p.Thr79PhefsTer4,ENST00000509690,;TP53,frameshift_variant,p.Thr118PhefsTer4,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,frameshift_variant,p.Thr172PhefsTer4,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	-	ENST00000269305	Transcript	frameshift_variant	821-822/2579	631-632/1182	211/393	T/X	ACt/t	TP53_g.12700_12701del,COSM45222,COSM46301,COSM5080077,COSM5080078,COSM5080079,COSM5080080,COSM5080081,COSM5080082	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5			6/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417											0,1,1,1,1,1,1,1,1						HIGH	1	deletion	1		0,1,1,1,1,1,1,1,1	1										PASS		.	.												-	7	5	100	7674899	7674899	GT	-	1	0	1	0	1	0	0	0	0	16859	1029	36	0		0	TP53	17	7674899	Frame_Shift_Del	DEL	GT	C3N-02424_TP		7674899	75582542	57	31446											
DRG2	0	.	GRCh38	chr17	18101533	18101533	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttttccgagaagactgctcCccggacgagttcatcgatgt	8	11	10	12	4	1	2	1	0	0	2	4	6	3	3	3	1	1	2	3	1	1	3	rs770979886		C3N-02424_TP	C3N-02424_NB	C	C																c.672C>G	p.=	p.S224S	ENST00000225729	8/13	236	219	17	243	242	1	strelka-varscan-mutect	DRG2,synonymous_variant,p.=,ENST00000225729,NM_001388.4;DRG2,synonymous_variant,p.=,ENST00000395726,;DRG2,intron_variant,,ENST00000583355,;DRG2,downstream_gene_variant,,ENST00000579601,;DRG2,downstream_gene_variant,,ENST00000580929,;DRG2,missense_variant,p.Pro224Ala,ENST00000580055,;DRG2,3_prime_UTR_variant,,ENST00000467099,;DRG2,3_prime_UTR_variant,,ENST00000582314,;DRG2,non_coding_transcript_exon_variant,,ENST00000582528,;DRG2,upstream_gene_variant,,ENST00000482564,;DRG2,downstream_gene_variant,,ENST00000583162,;DRG2,upstream_gene_variant,,ENST00000497744,;DRG2,downstream_gene_variant,,ENST00000496428,;DRG2,downstream_gene_variant,,ENST00000579224,;DRG2,downstream_gene_variant,,ENST00000577771,;DRG2,downstream_gene_variant,,ENST00000578767,;DRG2,downstream_gene_variant,,ENST00000577450,;DRG2,downstream_gene_variant,,ENST00000582419,;DRG2,downstream_gene_variant,,ENST00000578173,;DRG2,downstream_gene_variant,,ENST00000584212,;	G	ENST00000225729	Transcript	synonymous_variant	810/1964	672/1095	224/364	S	tcC/tcG	rs770979886	1		1	DRG2	HGNC	HGNC:3030	protein_coding	YES	CCDS11191.1	ENSP00000225729	P55039		UPI000012987D	NM_001388.4			8/13		Pfam_domain:PF16897,PROSITE_profiles:PS51710,hmmpanther:PTHR11702,hmmpanther:PTHR11702:SF26,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs770979886	.												G	2	3	100	18101533	18101533	C	G	1	0	0	0	0	0	0	0	1	4581	610	22	4		4	DRG2	17	18101533	Silent	SNP	C	C3N-02424_TP	10426634	18101533	65155908	58	31447											
CFAP53	0	.	GRCh38	chr18	50262108	50262108	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccactcagctttcaagcGatcccgctcacttgacttaa	9	11	6	15	2	3	1	3	1	0	0	5	2	5	1	2	0	2	2	2	0	2	3	rs550993731		C3N-02424_TP	C3N-02424_NB	G	G																c.181C>A	p.Arg61Ser	p.R61S	ENST00000398545	2/8	221	209	12	320	320	0	strelka-varscan-mutect	CFAP53,missense_variant,p.Arg61Ser,ENST00000398545,NM_145020.3;MBD1,downstream_gene_variant,,ENST00000585672,NM_001204141.1;MBD1,downstream_gene_variant,,ENST00000592060,;	T	ENST00000398545	Transcript	missense_variant	299/1851	181/1545	61/514	R/S	Cgc/Agc	rs550993731,COSM3422217	1		-1	CFAP53	HGNC	HGNC:26530	protein_coding	YES	CCDS11940.2	ENSP00000381553	Q96M91		UPI000014C50D	NM_145020.3	tolerated(0.09)		2/8		hmmpanther:PTHR31183,hmmpanther:PTHR31183:SF1											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs550993731	.												T	3	4	100	50262108	50262108	G	T	1	0	0	0	0	1	0	0	0	3024	1058	37	1		1	CFAP53	18	50262108	Missense_Mutation	SNP	G	C3N-02424_TP		50262108	30111177	59	31448											
BMP2	0	.	GRCh38	chr20	6770299	6770299	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagttcgagttgcggctgcTcagcatgttcggcctgaaac	7	10	13	11	4	1	1	1	1	0	0	3	3	1	1	1	2	4	6	1	2	1	3	novel		C3N-02424_TP	C3N-02424_NB	T	T																c.173T>G	p.Leu58Arg	p.L58R	ENST00000378827	2/3	232	205	27	298	297	1	strelka-varscan-mutect	BMP2,missense_variant,p.Leu58Arg,ENST00000378827,NM_001200.2;	G	ENST00000378827	Transcript	missense_variant	1392/3601	173/1191	58/396	L/R	cTc/cGc		1		1	BMP2	HGNC	HGNC:1069	protein_coding	YES	CCDS13099.1	ENSP00000368104	P12643	C8C060	UPI0000126A21	NM_001200.2	deleterious(0)		2/3		Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF143																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	100	6770299	6770299	T	G	1	0	0	0	0	1	0	0	0	1614	1551	54	5		5	BMP2	20	6770299	Missense_Mutation	SNP	T	C3N-02424_TP		6770299	57673868	60	31449											
BMP2	0	.	GRCh38	chr20	6770385	6770385	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacctgtatcgcaggcacTcaggtcagccgggctcaccc	8	7	11	15	2	3	1	3	0	0	1	4	1	3	1	3	3	1	4	3	3	2	2	novel		C3N-02424_TP	C3N-02424_NB	T	T																c.259T>C	p.Ser87Pro	p.S87P	ENST00000378827	2/3	135	122	13	156	156	0	strelka-varscan-mutect	BMP2,missense_variant,p.Ser87Pro,ENST00000378827,NM_001200.2;	C	ENST00000378827	Transcript	missense_variant	1478/3601	259/1191	87/396	S/P	Tca/Cca		1		1	BMP2	HGNC	HGNC:1069	protein_coding	YES	CCDS13099.1	ENSP00000368104	P12643	C8C060	UPI0000126A21	NM_001200.2	deleterious(0.02)		2/3		Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF143																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	100	6770385	6770385	T	C	1	0	0	0	0	1	0	0	0	1614	1551	54	5		5	BMP2	20	6770385	Missense_Mutation	SNP	T	C3N-02424_TP	86	6770385	57673782	61	31450											
KLHDC7B	0	.	GRCh38	chr22	50549887	50549887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccttccccttggggagcaCcggggtcctcagtccattca	5	9	11	16	1	2	0	2	0	0	0	5	1	5	1	6	4	1	1	6	4	0	3	rs774373269		C3N-02424_TP	C3N-02424_NB	C	C																c.1721C>A	p.Thr574Asn	p.T574N	ENST00000395676	1/1	75	69	6	71	71	0	strelka-varscan-mutect	KLHDC7B,missense_variant,p.Thr574Asn,ENST00000395676,NM_138433.3;SYCE3,downstream_gene_variant,,ENST00000406915,NM_001123225.1;SYCE3,downstream_gene_variant,,ENST00000402753,;CTA-384D8.31,downstream_gene_variant,,ENST00000434237,;	A	ENST00000395676	Transcript	missense_variant	1855/2991	1721/1785	574/594	T/N	aCc/aAc	rs774373269	1		1	KLHDC7B	HGNC	HGNC:25145	protein_coding	YES	CCDS14097.2	ENSP00000379034	Q96G42		UPI00005A75D4	NM_138433.3	deleterious(0)		1/1		hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF206																	MODERATE		SNV				1										PASS		rs774373269	.												A	3	1	100	50549887	50549887	C	A	1	0	0	0	0	1	0	0	0	8225	507	18	2		2	KLHDC7B	22	50549887	Missense_Mutation	SNP	C	C3N-02424_TP		50549887	268581	62	31451											
SLC9A6	0	.	GRCh38	chrX	136040154	136040154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgtggacccatcgccagGtgcctcaccagcccccaggc	6	6	11	18	1	1	0	1	0	0	0	2	1	1	1	6	3	3	1	6	3	0	0	novel		C3N-02424_TP	C3N-02424_NB	G	G																c.1806G>T	p.Arg602Ser	p.R602S	ENST00000370695	15/16	109	86	23	119	119	0	strelka-varscan-mutect	SLC9A6,missense_variant,p.Arg550Ser,ENST00000637581,;SLC9A6,missense_variant,p.Arg550Ser,ENST00000636347,;SLC9A6,missense_variant,p.Arg518Ser,ENST00000637195,;SLC9A6,missense_variant,p.Arg550Ser,ENST00000370701,NM_001177651.1;SLC9A6,missense_variant,p.Arg602Ser,ENST00000370695,NM_001042537.1;SLC9A6,missense_variant,p.Arg71Ser,ENST00000636206,;SLC9A6,missense_variant,p.Arg550Ser,ENST00000636092,;SLC9A6,missense_variant,p.Arg550Ser,ENST00000637234,;SLC9A6,missense_variant,p.Arg570Ser,ENST00000370698,NM_006359.2;SLC9A6,missense_variant,p.Arg129Ser,ENST00000630721,;SLC9A6,downstream_gene_variant,,ENST00000638078,;SLC9A6,non_coding_transcript_exon_variant,,ENST00000636798,;SLC9A6,non_coding_transcript_exon_variant,,ENST00000636625,;SLC9A6,non_coding_transcript_exon_variant,,ENST00000626147,;	T	ENST00000370695	Transcript	missense_variant	1882/4725	1806/2106	602/701	R/S	agG/agT		1		1	SLC9A6	HGNC	HGNC:11079	protein_coding	YES	CCDS44003.1	ENSP00000359729	Q92581		UPI0000062320	NM_001042537.1	tolerated(0.11)		15/16		Prints_domain:PR01088,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF94																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	100	136040154	136040154	G	T	1	0	0	0	0	1	0	0	0	15000	1252	44	2		2	SLC9A6	23	136040154	Missense_Mutation	SNP	G	C3N-02424_TP		136040154	20000741	63	31452											
MAGEA4	0	.	GRCh38	chrX	151923703	151923703	+	Frame_Shift_Del	DEL	G	G	-																															agtcagcactgcaagcctgaGgaaggcgttgaggcccaaga																										C3N-02424_TP	C3N-02424_NB	G	G																c.40delG	p.Glu14LysfsTer137	p.E14Kfs*137	ENST00000360243	3/3	91	69	22	135	135	0	sindel-varindel-pindel	MAGEA4,frameshift_variant,p.Glu14LysfsTer137,ENST00000360243,NM_001011550.1;MAGEA4,frameshift_variant,p.Glu14LysfsTer137,ENST00000370335,;MAGEA4,frameshift_variant,p.Glu14LysfsTer137,ENST00000370340,;MAGEA4,frameshift_variant,p.Glu14LysfsTer137,ENST00000393921,;MAGEA4,frameshift_variant,p.Glu14LysfsTer137,ENST00000276344,NM_001011548.1;MAGEA4,frameshift_variant,p.Glu14LysfsTer137,ENST00000393920,NM_002362.4,NM_001011549.1;MAGEA4,frameshift_variant,p.Glu14LysfsTer137,ENST00000416020,;MAGEA4,frameshift_variant,p.Glu14LysfsTer137,ENST00000431971,;MAGEA4,frameshift_variant,p.Glu14LysfsTer137,ENST00000441865,;MAGEA4,frameshift_variant,p.Glu14LysfsTer137,ENST00000457310,;MAGEA4,frameshift_variant,p.Glu14LysfsTer137,ENST00000430273,;MAGEA4,frameshift_variant,p.Glu14LysfsTer137,ENST00000425182,;MAGEA4,frameshift_variant,p.Glu14LysfsTer137,ENST00000448295,;MAGEA4,frameshift_variant,p.Glu14LysfsTer137,ENST00000431963,;	-	ENST00000360243	Transcript	frameshift_variant	306/1773	39/954	13/317	E/X	gaG/ga	COSM3559190	1		1	MAGEA4	HGNC	HGNC:6802	protein_coding	YES	CCDS14702.1	ENSP00000353379	P43358	A0A024RC12	UPI000013EA1F	NM_001011550.1			3/3		hmmpanther:PTHR11736:SF48,hmmpanther:PTHR11736,Pfam_domain:PF12440,SMART_domains:SM01392											1						HIGH	1	deletion	1	1	1	1										PASS		.	.												-	7	5	100	151923703	151923703	G	-	1	0	1	0	1	0	0	0	0	9084	991	35	0		0	MAGEA4	23	151923703	Frame_Shift_Del	DEL	G	C3N-02424_TP	15883549	151923703	4117192	64	31453											
ADAMTS4	0	.	GRCh38	chr1	161196280	161196280	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagccatacccagcgtgtcGcaagtggagactccacacag	11	6	10	14	2	1	1	1	0	0	1	3	2	2	1	3	1	3	1	3	1	2	1	rs770033830		C3N-02433_TP	C3N-02433_NB	G	G																c.981C>T	p.=	p.C327C	ENST00000367996	3/9	101	93	8	53	53	0	strelka-varscan-mutect	ADAMTS4,synonymous_variant,p.=,ENST00000367996,NM_005099.4;ADAMTS4,3_prime_UTR_variant,,ENST00000367995,;NDUFS2,upstream_gene_variant,,ENST00000367993,NM_004550.4;NDUFS2,upstream_gene_variant,,ENST00000496133,;NDUFS2,upstream_gene_variant,,ENST00000479948,;ADAMTS4,upstream_gene_variant,,ENST00000478394,;	A	ENST00000367996	Transcript	synonymous_variant	1410/9773	981/2514	327/837	C	tgC/tgT	rs770033830,COSM1582209,COSM1582210,COSM1583662,COSM898519	1		-1	ADAMTS4	HGNC	HGNC:220	protein_coding	YES	CCDS1223.1	ENSP00000356975	O75173		UPI000014194C	NM_005099.4			3/9		PROSITE_profiles:PS50215,hmmpanther:PTHR13723:SF38,hmmpanther:PTHR13723,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486											0,1,1,1,1						LOW	1	SNV	1		0,1,1,1,1	1										PASS		rs770033830	.												A	2	1	101	161196280	161196280	G	A	1	0	0	0	0	0	0	0	1	312	1079	38	1		1	ADAMTS4	1	161196280	Silent	SNP	G	C3N-02433_TP		161196280	87760142	1	31454											
TOR3A	0	.	GRCh38	chr1	179094218	179094218	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagattgtggagaccatagGtgagtaactgactcaatatg	13	10	13	5	0	1	4	1	2	0	2	1	6	1	4	1	3	1	1	1	3	4	4	novel		C3N-02433_TP	C3N-02433_NB	G	G																c.943+1G>T		p.X315_splice	ENST00000367627		112	90	22	79	79	0	strelka-varscan-mutect	TOR3A,splice_donor_variant,,ENST00000367627,NM_022371.3;TOR3A,splice_donor_variant,,ENST00000352445,;TOR3A,downstream_gene_variant,,ENST00000447595,;TOR3A,downstream_gene_variant,,ENST00000472001,;	T	ENST00000367627	Transcript	splice_donor_variant	-/2724	943/1194	315/397				1		1	TOR3A	HGNC	HGNC:11997	protein_coding	YES	CCDS1329.1	ENSP00000356599	Q9H497		UPI000006F204	NM_022371.3				5/5																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	101	179094218	179094218	G	T	1	0	0	0	0	0	0	1	0	16853	1275	44	2		2	TOR3A	1	179094218	Splice_Site	SNP	G	C3N-02433_TP	17897938	179094218	69862204	2	31455											
ZNF648	0	.	GRCh38	chr1	182057611	182057611	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttgcatctgacctaacaAtttgtgtgcgagaccactgg	10	11	11	9	1	1	2	0	1	1	1	1	3	1	2	2	2	3	2	2	2	2	3	rs747432726		C3N-02433_TP	C3N-02433_NB	A	A																c.400T>A	p.Leu134Met	p.L134M	ENST00000339948	2/2	700	577	123	439	438	1	strelka-varscan-mutect	ZNF648,missense_variant,p.Leu134Met,ENST00000339948,NM_001009992.1;	T	ENST00000339948	Transcript	missense_variant	608/3649	400/1707	134/568	L/M	Ttg/Atg	rs747432726	1		-1	ZNF648	HGNC	HGNC:18190	protein_coding	YES	CCDS30952.1	ENSP00000344129	Q5T619		UPI0000161414	NM_001009992.1	tolerated(0.13)		2/2		hmmpanther:PTHR24376:SF1,hmmpanther:PTHR24376																	MODERATE	1	SNV	1			1										PASS		rs747432726	.												T	3	4	101	182057611	182057611	A	T	1	0	0	0	0	1	0	0	0	18636	98	4	4		4	ZNF648	1	182057611	Missense_Mutation	SNP	A	C3N-02433_TP	2963393	182057611	66898811	3	31456											
CRB1	0	.	GRCh38	chr1	197435247	197435247	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagagcaatttctcaaaatCtctaccaattcagtggtcac	14	11	6	10	0	4	1	3	0	2	1	6	2	4	1	1	1	2	1	1	1	6	3	novel		C3N-02433_TP	C3N-02433_NB	C	C																c.3384C>T	p.=	p.I1128I	ENST00000367400	9/12	303	286	17	296	296	0	strelka-varscan-mutect	CRB1,synonymous_variant,p.=,ENST00000367397,;CRB1,synonymous_variant,p.=,ENST00000535699,NM_001257965.1;CRB1,synonymous_variant,p.=,ENST00000367400,NM_201253.2;CRB1,synonymous_variant,p.=,ENST00000367399,NM_001193640.1;CRB1,intron_variant,,ENST00000538660,NM_001257966.1;RP11-75C23.1,downstream_gene_variant,,ENST00000422250,;CRB1,synonymous_variant,p.=,ENST00000484075,;	T	ENST00000367400	Transcript	synonymous_variant	3519/4932	3384/4221	1128/1406	I	atC/atT		1		1	CRB1	HGNC	HGNC:2343	protein_coding	YES	CCDS1390.1	ENSP00000356370	P82279		UPI0000073345	NM_201253.2			9/12		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR24049																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	101	197435247	197435247	C	T	1	0	0	0	0	0	0	0	1	3648	903	32	3		3	CRB1	1	197435247	Silent	SNP	C	C3N-02433_TP	15377636	197435247	51521175	4	31457											
C1orf116	0	.	GRCh38	chr1	207021964	207021966	+	In_Frame_Del	DEL	CTT	CTT	-																															actggtcgcagagtctactcCttcaacagtcccagcttctt																								novel		C3N-02433_TP	C3N-02433_NB	CTT	CTT																c.1798_1800delAAG	p.Lys600del	p.K600del	ENST00000359470	4/4	19	16	3	18	18	0	sindel-pindel	C1orf116,inframe_deletion,p.Lys600del,ENST00000359470,NM_023938.5;C1orf116,inframe_deletion,p.Lys354del,ENST00000461135,NM_001083924.1;	-	ENST00000359470	Transcript	inframe_deletion	2048-2050/5493	1798-1800/1806	600/601	K/-	AAG/-		1		-1	C1orf116	HGNC	HGNC:28667	protein_coding	YES	CCDS1475.1	ENSP00000352447	Q9BW04		UPI000013E1EF	NM_023938.5			4/4		Pfam_domain:PF15385,hmmpanther:PTHR21555,hmmpanther:PTHR21555:SF0																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	101	207021964	207021964	CTT	-	1	0	1	0	1	0	0	0	0	1961	680	24	0		0	C1orf116	1	207021964	In_Frame_Del	DEL	CTT	C3N-02433_TP	9586717	207021964	41934458	5	31458											
OR2M7	0	.	GRCh38	chr1	248324233	248324233	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacataacagccaacagaaaGcattcggagccaagcaatga	18	4	9	10	1	0	2	0	1	0	1	1	4	0	3	2	1	6	2	2	1	5	2	novel		C3N-02433_TP	C3N-02433_NB	G	G																c.336C>T	p.=	p.C112C	ENST00000317965	1/1	336	291	45	278	278	0	strelka-varscan	OR2M7,synonymous_variant,p.=,ENST00000317965,NM_001004691.1;	A	ENST00000317965	Transcript	synonymous_variant	336/939	336/939	112/312	C	tgC/tgT		1		-1	OR2M7	HGNC	HGNC:19594	protein_coding	YES	CCDS31111.1	ENSP00000324557	Q8NG81	A0A126GVZ1	UPI000004B236	NM_001004691.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF28,PROSITE_patterns:PS00237,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												A	2	1	101	248324233	248324233	G	A	1	0	0	0	0	0	0	0	1	11092	963	34	3		3	OR2M7	1	248324233	Silent	SNP	G	C3N-02433_TP	41302269	248324233	632189	6	31459											
PFN4	0	.	GRCh38	chr2	24121251	24121251	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctcttcgggcttgcaaaGggttcttggcaaatccattc	7	14	9	11	1	2	0	0	0	2	0	6	0	3	0	1	3	1	4	1	3	2	6	novel		C3N-02433_TP	C3N-02433_NB	G	G																c.167C>G	p.Pro56Arg	p.P56R	ENST00000313213	3/5	128	104	24	155	154	1	strelka-varscan	PFN4,missense_variant,p.Pro56Arg,ENST00000313213,NM_199346.2;FAM228B,intron_variant,,ENST00000613899,NM_001291328.1;FAM228B,upstream_gene_variant,,ENST00000615575,NM_001145710.1;FAM228B,upstream_gene_variant,,ENST00000611127,;PFN4,downstream_gene_variant,,ENST00000436622,;PFN4,non_coding_transcript_exon_variant,,ENST00000465360,;FAM228B,intron_variant,,ENST00000486967,;RP11-507M3.1,upstream_gene_variant,,ENST00000610442,;FAM228B,upstream_gene_variant,,ENST00000615135,;	C	ENST00000313213	Transcript	missense_variant	539/974	167/390	56/129	P/R	cCt/cGt		1		-1	PFN4	HGNC	HGNC:31103	protein_coding	YES	CCDS1709.1	ENSP00000322170	Q8NHR9		UPI000006CFF1	NM_199346.2	tolerated(0.08)		3/5		Gene3D:3.30.450.30,Pfam_domain:PF00235,hmmpanther:PTHR11604,hmmpanther:PTHR11604:SF2,SMART_domains:SM00392,Superfamily_domains:SSF55770																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	101	24121251	24121251	G	C	1	0	0	0	0	1	0	0	0	11860	1000	35	4		4	PFN4	2	24121251	Missense_Mutation	SNP	G	C3N-02433_TP		24121251	218072278	7	31460											
CCDC88A	0	.	GRCh38	chr2	55318926	55318926	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgaagtgcaagaatctgagCctgcaaattattgttctgtg	11	13	10	7	0	2	3	0	2	2	1	2	3	2	3	1	0	3	3	1	0	5	3			C3N-02433_TP	C3N-02433_NB	C	C																c.3238G>T	p.Ala1080Ser	p.A1080S	ENST00000336838	19/33	148	122	26	187	186	1	strelka-varscan	CCDC88A,missense_variant,p.Ala1081Ser,ENST00000436346,;CCDC88A,missense_variant,p.Ala1081Ser,ENST00000263630,NM_018084.4;CCDC88A,missense_variant,p.Ala1080Ser,ENST00000413716,NM_001254943.1;CCDC88A,missense_variant,p.Ala1080Ser,ENST00000336838,NM_001135597.1;CCDC88A,missense_variant,p.Ala256Ser,ENST00000426576,;CCDC88A,missense_variant,p.Ala126Ser,ENST00000412148,;CCDC88A,missense_variant,p.Ala62Ser,ENST00000456975,;AC012358.8,intron_variant,,ENST00000630025,;AC012358.8,intron_variant,,ENST00000599475,;AC012358.8,intron_variant,,ENST00000625679,;AC012358.8,intron_variant,,ENST00000626674,;AC012358.8,intron_variant,,ENST00000600219,;AC012358.8,intron_variant,,ENST00000599352,;AC012358.8,intron_variant,,ENST00000594078,;AC012358.8,intron_variant,,ENST00000626053,;AC012358.8,intron_variant,,ENST00000608103,;AC012358.8,intron_variant,,ENST00000628820,;AC012358.8,intron_variant,,ENST00000629788,;AC012358.8,intron_variant,,ENST00000629546,;AC012358.8,intron_variant,,ENST00000625264,;AC012358.8,intron_variant,,ENST00000628048,;AC012358.8,intron_variant,,ENST00000626036,;AC012358.8,intron_variant,,ENST00000629859,;AC012358.8,intron_variant,,ENST00000629819,;AC012358.8,intron_variant,,ENST00000626359,;AC012358.8,intron_variant,,ENST00000627989,;AC012358.8,intron_variant,,ENST00000628537,;AC012358.8,downstream_gene_variant,,ENST00000366287,;AC012358.8,downstream_gene_variant,,ENST00000613806,;AC012358.8,downstream_gene_variant,,ENST00000625718,;AC012358.8,downstream_gene_variant,,ENST00000626226,;AC012358.8,downstream_gene_variant,,ENST00000625841,;AC012358.8,downstream_gene_variant,,ENST00000625627,;CCDC88A,upstream_gene_variant,,ENST00000474059,;CCDC88A,upstream_gene_variant,,ENST00000476903,;	A	ENST00000336838	Transcript	missense_variant	3772/9505	3238/5613	1080/1870	A/S	Gct/Tct	COSM4618248,COSM4618249	1		-1	CCDC88A	HGNC	HGNC:25523	protein_coding	YES	CCDS46288.1	ENSP00000338728	Q3V6T2		UPI00005B7220	NM_001135597.1	tolerated(0.87)		19/33		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947:SF30,hmmpanther:PTHR18947											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	101	55318926	55318926	C	A	1	0	0	0	0	1	0	0	0	2562	739	26	2		2	CCDC88A	2	55318926	Missense_Mutation	SNP	C	C3N-02433_TP	31197675	55318926	186874603	8	31461											
BCL11A	0	.	GRCh38	chr2	60461077	60461077	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaggccccccgaggccGactcgcccggggagcagccg	6	2	16	17	5	0	0	0	0	0	0	1	4	0	2	6	5	2	1	6	5	0	0			C3N-02433_TP	C3N-02433_NB	G	G																c.1835C>A	p.Ser612Ter	p.S612*	ENST00000335712	4/4	57	51	6	44	44	0	strelka-varscan	BCL11A,stop_gained,p.Ser612Ter,ENST00000335712,NM_022893.3;BCL11A,stop_gained,p.Ser612Ter,ENST00000356842,NM_018014.3;BCL11A,stop_gained,p.Ser578Ter,ENST00000358510,;BCL11A,intron_variant,,ENST00000359629,NM_138559.1;BCL11A,intron_variant,,ENST00000489516,;BCL11A,upstream_gene_variant,,ENST00000479026,;BCL11A,non_coding_transcript_exon_variant,,ENST00000477659,;BCL11A,intron_variant,,ENST00000492272,;BCL11A,3_prime_UTR_variant,,ENST00000631857,;	T	ENST00000335712	Transcript	stop_gained	2063/5942	1835/2508	612/835	S/*	tCg/tAg	COSM3053783,COSM3053784	1		-1	BCL11A	HGNC	HGNC:13221	protein_coding	YES	CCDS1862.1	ENSP00000338774	Q9H165	D6W5D9	UPI000013DC00	NM_022893.3			4/4		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												T	4	4	101	60461077	60461077	G	T	1	0	0	0	0	0	1	0	0	1510	1059	37	1		1	BCL11A	2	60461077	Nonsense_Mutation	SNP	G	C3N-02433_TP	5142151	60461077	181732452	9	31462											
CCT4	0	.	GRCh38	chr2	61888437	61888437	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcttgtcgcggtcctgaTaggcgcctttcccgcggccg	2	10	14	15	6	0	1	0	1	0	0	3	1	2	1	4	4	0	1	4	4	1	3	rs749405108		C3N-02433_TP	C3N-02433_NB	T	T																c.71A>C	p.Tyr24Ser	p.Y24S	ENST00000394440	1/14	194	169	25	123	123	0	strelka-varscan	CCT4,missense_variant,p.Tyr24Ser,ENST00000394440,NM_006430.3;CCT4,missense_variant,p.Tyr24Ser,ENST00000544079,NM_001256721.1;AC107081.5,downstream_gene_variant,,ENST00000425779,;CCT4,non_coding_transcript_exon_variant,,ENST00000461370,;COMMD1,upstream_gene_variant,,ENST00000472729,;	G	ENST00000394440	Transcript	missense_variant	368/2520	71/1620	24/539	Y/S	tAt/tCt	rs749405108	1		-1	CCT4	HGNC	HGNC:1617	protein_coding	YES	CCDS33206.1	ENSP00000377958	P50991		UPI00000362DF	NM_006430.3	tolerated(0.08)		1/14		hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02342																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	101	61888437	61888437	T	G	1	0	0	0	0	1	0	0	0	2656	1406	49	5		5	CCT4	2	61888437	Missense_Mutation	SNP	T	C3N-02433_TP	1427360	61888437	180305092	10	31463											
EXOC3	0	.	GRCh38	chr5	459392	459392	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcaagttgctgctcagAtaagtgaagatttgaaaaca	15	12	8	6	0	3	4	2	2	1	2	3	4	3	4	0	0	3	3	0	0	5	4	novel		C3N-02433_TP	C3N-02433_NB	A	A																c.1324A>G	p.Ile442Val	p.I442V	ENST00000512944	7/13	59	51	8	104	104	0	strelka-varscan-mutect	EXOC3,missense_variant,p.Ile442Val,ENST00000512944,NM_007277.4;EXOC3,missense_variant,p.Ile442Val,ENST00000315013,;EXOC3,missense_variant,p.Ile312Val,ENST00000503889,;EXOC3,non_coding_transcript_exon_variant,,ENST00000510028,;EXOC3,intron_variant,,ENST00000515601,;EXOC3,upstream_gene_variant,,ENST00000511015,;	G	ENST00000512944	Transcript	missense_variant	1513/2825	1324/2238	442/745	I/V	Ata/Gta		1		1	EXOC3	HGNC	HGNC:30378	protein_coding	YES	CCDS54830.1	ENSP00000425587	O60645	A0A024QYZ6	UPI000004A021	NM_007277.4	tolerated(0.25)		7/13		hmmpanther:PTHR21292:SF13,hmmpanther:PTHR21292,Pfam_domain:PF06046																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	101	459392	459392	A	G	1	0	0	0	0	1	0	0	0	5170	333	12	5		5	EXOC3	5	459392	Missense_Mutation	SNP	A	C3N-02433_TP		459392	181078867	11	31464											
CDH18	0	.	GRCh38	chr5	19746980	19746980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacagtaacaatgtatggtCcatctgtgaattttggagcg	11	12	11	7	1	1	1	0	1	1	0	2	2	2	2	1	2	2	3	1	2	4	4			C3N-02433_TP	C3N-02433_NB	C	C																c.485G>T	p.Gly162Val	p.G162V	ENST00000507958	6/15	161	124	37	163	163	0	strelka-varscan-mutect	CDH18,missense_variant,p.Gly162Val,ENST00000507958,NM_001291956.1;CDH18,missense_variant,p.Gly162Val,ENST00000382275,NM_004934.3;CDH18,missense_variant,p.Gly162Val,ENST00000274170,;CDH18,missense_variant,p.Gly162Val,ENST00000506372,NM_001291957.1;CDH18,missense_variant,p.Gly162Val,ENST00000502796,NM_001167667.1;CDH18,missense_variant,p.Gly162Val,ENST00000511273,;CDH18,missense_variant,p.Gly108Val,ENST00000515257,;CDH18,non_coding_transcript_exon_variant,,ENST00000508350,;	A	ENST00000507958	Transcript	missense_variant	1476/3542	485/2373	162/790	G/V	gGa/gTa	COSM737348,COSM737349	1		-1	CDH18	HGNC	HGNC:1757	protein_coding	YES	CCDS3889.1	ENSP00000425093	Q13634		UPI0000126DBD	NM_001291956.1	deleterious(0)		6/15		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Prints_domain:PR00205											1,1						MODERATE	1	SNV	2		1,1	1										PASS		.	.												A	3	1	101	19746980	19746980	C	A	1	0	0	0	0	1	0	0	0	2806	855	30	2		2	CDH18	5	19746980	Missense_Mutation	SNP	C	C3N-02433_TP	19287588	19746980	161791279	12	31465											
PDE4D	0	.	GRCh38	chr5	58976412	58976412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttgtcactttcttagtttCaaccatagtcttcaaatcag	10	16	5	10	0	6	0	4	0	2	0	6	0	6	0	1	0	1	2	1	0	4	6			C3N-02433_TP	C3N-02433_NB	C	C																c.1768G>A	p.Glu590Lys	p.E590K	ENST00000340635	13/15	154	103	51	188	188	0	strelka-varscan-mutect	PDE4D,missense_variant,p.Glu590Lys,ENST00000340635,NM_001104631.1;PDE4D,missense_variant,p.Glu459Lys,ENST00000546160,;PDE4D,missense_variant,p.Glu480Lys,ENST00000636120,;PDE4D,missense_variant,p.Glu526Lys,ENST00000507116,NM_001197218.1;PDE4D,missense_variant,p.Glu454Lys,ENST00000360047,NM_006203.4;PDE4D,missense_variant,p.Glu288Lys,ENST00000358923,NM_001197221.1,NM_001197222.1;PDE4D,missense_variant,p.Glu460Lys,ENST00000503258,NM_001197220.1;PDE4D,missense_variant,p.Glu299Lys,ENST00000317118,NM_001197223.1;PDE4D,missense_variant,p.Glu529Lys,ENST00000502484,NM_001165899.1;PDE4D,missense_variant,p.Glu468Lys,ENST00000405755,NM_001197219.1;PDE4D,missense_variant,p.Glu288Lys,ENST00000505453,;PDE4D,3_prime_UTR_variant,,ENST00000309641,;PDE4D,non_coding_transcript_exon_variant,,ENST00000515011,;	T	ENST00000340635	Transcript	missense_variant	1944/8232	1768/2430	590/809	E/K	Gaa/Aaa	COSM1150113,COSM1150114,COSM4860577,COSM738451,COSM738452,COSM738453,COSM738454,COSM738455	1		-1	PDE4D	HGNC	HGNC:8783	protein_coding	YES	CCDS47213.1	ENSP00000345502	Q08499	A0A140VJR0	UPI0000050EB1	NM_001104631.1	deleterious_low_confidence(0)		13/15		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF91,Pfam_domain:PF00233,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604											1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,1,1,1,1,1,1	1										PASS		.	.												T	3	4	101	58976412	58976412	C	T	1	0	0	0	0	1	0	0	0	11730	835	29	3		3	PDE4D	5	58976412	Missense_Mutation	SNP	C	C3N-02433_TP	39229432	58976412	122561847	13	31466											
SPZ1	0	.	GRCh38	chr5	80321115	80321115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataatgaagtgtcggctaaGcatgagctggaggaacaggt	14	8	14	5	1	0	2	0	2	0	0	1	4	0	4	0	4	3	3	0	4	5	2	novel		C3N-02433_TP	C3N-02433_NB	G	G																c.900G>T	p.Lys300Asn	p.K300N	ENST00000296739	1/1	123	81	42	114	114	0	strelka-varscan-mutect	SPZ1,missense_variant,p.Lys300Asn,ENST00000296739,NM_032567.3;SPZ1,downstream_gene_variant,,ENST00000511881,;	T	ENST00000296739	Transcript	missense_variant	1141/1868	900/1293	300/430	K/N	aaG/aaT		1		1	SPZ1	HGNC	HGNC:30721	protein_coding	YES	CCDS43336.1	ENSP00000369611	Q9BXG8	A0A140VKA5	UPI000020CBA6	NM_032567.3	tolerated(0.33)		1/1		hmmpanther:PTHR23158:SF40,hmmpanther:PTHR23158																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	101	80321115	80321115	G	T	1	0	0	0	0	1	0	0	0	15486	962	34	2		2	SPZ1	5	80321115	Missense_Mutation	SNP	G	C3N-02433_TP	21344703	80321115	101217144	14	31467											
PRR16	0	.	GRCh38	chr5	120464585	120464585	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggaacagatcaagatcatCgtggaggatttggaattagt	15	10	12	4	1	2	2	2	0	0	2	3	6	2	6	0	4	1	0	0	4	5	2	novel		C3N-02433_TP	C3N-02433_NB	C	C																c.99C>T	p.=	p.I33I	ENST00000407149	1/2	162	126	36	176	176	0	strelka-varscan-mutect	PRR16,synonymous_variant,p.=,ENST00000407149,NM_001300783.1;PRR16,5_prime_UTR_variant,,ENST00000379551,NM_016644.2;PRR16,upstream_gene_variant,,ENST00000509923,;	T	ENST00000407149	Transcript	synonymous_variant	308/1747	99/915	33/304	I	atC/atT		1		1	PRR16	HGNC	HGNC:29654	protein_coding	YES	CCDS75290.1	ENSP00000385118	Q569H4		UPI00004F9C36	NM_001300783.1			1/2		hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0																	LOW	1	SNV	1			1										PASS		rs1325026375	.												T	2	4	101	120464585	120464585	C	T	1	0	0	0	0	0	0	0	1	12725	874	31	1		1	PRR16	5	120464585	Silent	SNP	C	C3N-02433_TP	40143470	120464585	61073674	15	31468											
C6orf89	0	.	GRCh38	chr6	36899594	36899595	+	Frame_Shift_Ins	INS	-	-	C																															aaaagaatgaacctcagagaINSccccccccgcagtatcctct																								rs777115998		C3N-02433_TP	C3N-02433_NB	-	-																c.179dupC	p.Gln61AlafsTer10	p.Q61Afs*10	ENST00000355190	2/8	267	212	55	220	220	0	sindel-varindel	C6orf89,frameshift_variant,p.Gln54AlafsTer10,ENST00000480824,NM_001286635.1;C6orf89,frameshift_variant,p.Gln54AlafsTer10,ENST00000373685,;C6orf89,frameshift_variant,p.Gln61AlafsTer10,ENST00000355190,NM_152734.3;C6orf89,5_prime_UTR_variant,,ENST00000359359,NM_001286636.1,NM_001286637.1;	C	ENST00000355190	Transcript	frameshift_variant	334-335/1309	171-172/1065	57-58/354	-/X	-/C	rs777115998	1		1	C6orf89	HGNC	HGNC:21114	protein_coding	YES	CCDS4827.1	ENSP00000347322	Q6UWU4		UPI000035E870	NM_152734.3			2/8		hmmpanther:PTHR35259,hmmpanther:PTHR35259:SF1																	HIGH	1	insertion	1	8		1										PASS		.	.												C	7	5	101	36899594	36899594	-	C	1	0	1	1	0	0	0	0	0	2133	272	10	0		0	C6orf89	6	36899594	Frame_Shift_Ins	INS	-	C3N-02433_TP		36899594	133906385	16	31469											
BYSL	0	.	GRCh38	chr6	41932654	41932654	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccgaaatcaggcgtgagcTtcagagtgcagtcccccgcg	8	6	13	14	4	2	2	2	1	0	1	3	3	3	2	3	1	2	2	3	1	1	1	novel		C3N-02433_TP	C3N-02433_NB	T	T																c.1262T>G	p.Leu421Arg	p.L421R	ENST00000230340	7/7	128	95	33	104	103	1	strelka-varscan	BYSL,missense_variant,p.Leu421Arg,ENST00000230340,NM_004053.3;CCND3,downstream_gene_variant,,ENST00000511642,;CCND3,downstream_gene_variant,,ENST00000372987,NM_001287427.1;CCND3,downstream_gene_variant,,ENST00000372988,NM_001136017.3;CCND3,downstream_gene_variant,,ENST00000372991,NM_001760.4;CCND3,downstream_gene_variant,,ENST00000616010,NM_001287434.1;CCND3,downstream_gene_variant,,ENST00000415497,NM_001136126.2;CCND3,downstream_gene_variant,,ENST00000414200,NM_001136125.2;CCND3,downstream_gene_variant,,ENST00000510503,;CCND3,downstream_gene_variant,,ENST00000512426,;CCND3,downstream_gene_variant,,ENST00000508143,;CCND3,downstream_gene_variant,,ENST00000505064,;CCND3,downstream_gene_variant,,ENST00000511686,;CCND3,downstream_gene_variant,,ENST00000513956,;CCND3,downstream_gene_variant,,ENST00000506555,;BYSL,3_prime_UTR_variant,,ENST00000372996,;BYSL,3_prime_UTR_variant,,ENST00000489290,;CCND3,downstream_gene_variant,,ENST00000505672,;CCND3,downstream_gene_variant,,ENST00000510058,;BYSL,downstream_gene_variant,,ENST00000475702,;CCND3,downstream_gene_variant,,ENST00000505884,;CCND3,downstream_gene_variant,,ENST00000511161,;	G	ENST00000230340	Transcript	missense_variant	1637/2029	1262/1314	421/437	L/R	cTt/cGt		1		1	BYSL	HGNC	HGNC:1157	protein_coding	YES	CCDS34450.1	ENSP00000230340	Q13895		UPI0000034CC4	NM_004053.3	deleterious(0)		7/7		hmmpanther:PTHR12821,hmmpanther:PTHR12821:SF0,Pfam_domain:PF05291																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	101	41932654	41932654	T	G	1	0	0	0	0	1	0	0	0	1752	1609	56	5		5	BYSL	6	41932654	Missense_Mutation	SNP	T	C3N-02433_TP	5033060	41932654	128873325	17	31470											
RPL7L1	0	.	GRCh38	chr6	42880948	42880948	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacccaggcaaagcaggcActtttggcaaagaaggaggt	13	5	13	10	0	0	1	0	0	0	1	0	2	0	2	2	5	1	4	2	5	3	2	novel		C3N-02433_TP	C3N-02433_NB	A	A																c.102A>T	p.=	p.A34A	ENST00000493763	2/6	304	243	61	280	280	0	strelka-varscan	RPL7L1,synonymous_variant,p.=,ENST00000493763,NM_198486.2;RPL7L1,synonymous_variant,p.=,ENST00000304734,;RPL7L1,synonymous_variant,p.=,ENST00000602561,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000397415,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000462348,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000492836,;RPL7L1,intron_variant,,ENST00000483998,;RPL7L1,intron_variant,,ENST00000487619,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000497417,;RPL7L1,upstream_gene_variant,,ENST00000459829,;	T	ENST00000493763	Transcript	synonymous_variant	405/4476	102/741	34/246	A	gcA/gcT		1		1	RPL7L1	HGNC	HGNC:21370	protein_coding	YES	CCDS4873.1	ENSP00000418221	Q6DKI1		UPI00001D81E1	NM_198486.2			2/6		Low_complexity_(Seg):seg,hmmpanther:PTHR11524,hmmpanther:PTHR11524:SF13,Pfam_domain:PF08079,TIGRFAM_domain:TIGR01310																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	101	42880948	42880948	A	T	1	0	0	0	0	0	0	0	1	13854	146	6	4		4	RPL7L1	6	42880948	Silent	SNP	A	C3N-02433_TP	948294	42880948	127925031	18	31471											
CD109	0	.	GRCh38	chr6	73730539	73730539	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacactcttctcagattttAagccttacaaaacctcttta	12	16	2	11	0	3	1	1	0	3	1	4	1	3	1	2	0	4	0	2	0	6	7	rs760918169		C3N-02433_TP	C3N-02433_NB	A	A																c.472A>C	p.Lys158Gln	p.K158Q	ENST00000287097	4/33	152	114	38	155	155	0	strelka-varscan	CD109,missense_variant,p.Lys158Gln,ENST00000437994,NM_001159587.2;CD109,missense_variant,p.Lys158Gln,ENST00000287097,NM_133493.4;CD109,intron_variant,,ENST00000422508,NM_001159588.2;	C	ENST00000287097	Transcript	missense_variant	584/9130	472/4338	158/1445	K/Q	Aag/Cag	rs760918169	1		1	CD109	HGNC	HGNC:21685	protein_coding	YES	CCDS4982.1	ENSP00000287097	Q6YHK3		UPI000013DE92	NM_133493.4	deleterious(0)		4/33		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF80,Pfam_domain:PF01835																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	101	73730539	73730539	A	C	1	0	0	0	0	1	0	0	0	2666	363	13	5		5	CD109	6	73730539	Missense_Mutation	SNP	A	C3N-02433_TP	30849591	73730539	97075440	19	31472											
ARID1B	0	.	GRCh38	chr6	156778329	156778329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcaacagcaacatcccAtttccaacaacaacagcttg	16	6	5	14	0	0	0	0	0	0	0	2	0	2	0	2	0	9	4	2	0	5	2	novel		C3N-02433_TP	C3N-02433_NB	A	A																c.400A>G	p.Ile134Val	p.I134V	ENST00000346085	1/20	232	186	46	212	212	0	strelka-varscan	ARID1B,missense_variant,p.Ile134Val,ENST00000346085,NM_020732.3;ARID1B,missense_variant,p.Ile134Val,ENST00000636930,;ARID1B,missense_variant,p.Ile134Val,ENST00000350026,NM_017519.2;ARID1B,upstream_gene_variant,,ENST00000636748,;ARID1B,upstream_gene_variant,,ENST00000414678,;ARID1B,upstream_gene_variant,,ENST00000638000,;ARID1B,upstream_gene_variant,,ENST00000494260,;ARID1B,upstream_gene_variant,,ENST00000636607,;RP11-230C9.4,upstream_gene_variant,,ENST00000604082,;MIR4466,downstream_gene_variant,,ENST00000606121,;RP11-230C9.2,non_coding_transcript_exon_variant,,ENST00000603191,;RP11-230C9.3,downstream_gene_variant,,ENST00000604792,;ARID1B,upstream_gene_variant,,ENST00000637910,;	G	ENST00000346085	Transcript	missense_variant	956/10194	400/6750	134/2249	I/V	Att/Gtt		1		1	ARID1B	HGNC	HGNC:18040	protein_coding	YES	CCDS55072.1	ENSP00000344546	Q8NFD5		UPI000058E4B2	NM_020732.3	tolerated_low_confidence(0.07)		1/20																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	101	156778329	156778329	A	G	1	0	0	0	0	1	0	0	0	1050	217	8	5		5	ARID1B	6	156778329	Missense_Mutation	SNP	A	C3N-02433_TP	83047790	156778329	14027650	20	31473											
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcacagattttgggcTggccaaactgctgggtgcgg	9	9	14	9	1	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	2	2	rs121434568		C3N-02433_TP	C3N-02433_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	679	437	242	403	403	0	strelka-varscan	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												G	3	3	101	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3N-02433_TP		55191822	104154151	21	31474											
ZNF800	0	.	GRCh38	chr7	127391545	127391545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcagtctgacagtatttgtCccttaaaggcattttcagtg	9	15	9	8	0	3	1	2	1	1	0	4	1	4	1	1	1	0	2	1	1	3	5	novel		C3N-02433_TP	C3N-02433_NB	C	C																c.13G>A	p.Asp5Asn	p.D5N	ENST00000393313	2/6	293	261	32	224	224	0	strelka-varscan	ZNF800,missense_variant,p.Asp5Asn,ENST00000393313,;ZNF800,missense_variant,p.Asp5Asn,ENST00000265827,NM_176814.4;ZNF800,missense_variant,p.Asp5Asn,ENST00000393312,;ZNF800,missense_variant,p.Asp5Asn,ENST00000619291,;ZNF800,missense_variant,p.Asp5Asn,ENST00000434602,;ZNF800,missense_variant,p.Asp5Asn,ENST00000436992,;ZNF800,missense_variant,p.Asp5Asn,ENST00000439506,;	T	ENST00000393313	Transcript	missense_variant	605/4358	13/1995	5/664	D/N	Gac/Aac		1		-1	ZNF800	HGNC	HGNC:27267	protein_coding	YES	CCDS5795.1	ENSP00000376989	Q2TB10		UPI000020FA03		tolerated(0.12)		2/6		hmmpanther:PTHR21020																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	101	127391545	127391545	C	T	1	0	0	0	0	1	0	0	0	18754	855	30	3		3	ZNF800	7	127391545	Missense_Mutation	SNP	C	C3N-02433_TP	72199723	127391545	31954428	22	31475											
ENY2	0	.	GRCh38	chr8	109342708	109342709	+	Frame_Shift_Ins	INS	-	-	G																															gagacaggtttcgccatgttINSgcccaggctggtcttgagct																								novel		C3N-02433_TP	C3N-02433_NB	-	-																c.234dupG	p.Pro79AlafsTer38	p.P79Afs*38	ENST00000520147	5/6	160	116	44	118	118	0	sindel-varindel-pindel	ENY2,frameshift_variant,p.Pro79AlafsTer38,ENST00000520147,;ENY2,intron_variant,,ENST00000521688,NM_020189.5;ENY2,intron_variant,,ENST00000521662,NM_001193557.1;ENY2,intron_variant,,ENST00000522407,;ENY2,intron_variant,,ENST00000517756,;ENY2,intron_variant,,ENST00000517311,;ENY2,intron_variant,,ENST00000518118,;ENY2,intron_variant,,ENST00000517350,;ENY2,intron_variant,,ENST00000523335,;ENY2,intron_variant,,ENST00000521619,;ENY2,intron_variant,,ENST00000523707,;ENY2,intron_variant,,ENST00000522766,;ENY2,intron_variant,,ENST00000339942,;ENY2,downstream_gene_variant,,ENST00000518584,;ENY2,downstream_gene_variant,,ENST00000519754,;	G	ENST00000520147	Transcript	frameshift_variant	305-306/857	233-234/303	78/100	L/LX	ttg/ttGg		1		1	ENY2	HGNC	HGNC:24449	protein_coding			ENSP00000429588		E5RHX8	UPI0001E8F67C				5/6		HAMAP:MF_03046																	HIGH		insertion	4	1		1										PASS		.	.												G	7	5	101	109342708	109342708	-	G	1	0	1	1	0	0	0	0	0	4991	1821	63	0		0	ENY2	8	109342708	Frame_Shift_Ins	INS	-	C3N-02433_TP		109342708	35795928	23	31476											
ARC	0	.	GRCh38	chr8	142613285	142613285	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacgcttgagcttgggctgCagggtgcccaccacgtactg	8	8	13	12	2	0	1	0	1	0	0	0	1	0	1	2	2	5	5	2	2	2	3	novel		C3N-02433_TP	C3N-02433_NB	C	C																c.987G>A	p.=	p.L329L	ENST00000356613	1/3	244	176	68	138	138	0	strelka-varscan-mutect	ARC,synonymous_variant,p.=,ENST00000356613,NM_015193.4;ARC,upstream_gene_variant,,ENST00000581404,;	T	ENST00000356613	Transcript	synonymous_variant	1188/2948	987/1191	329/396	L	ctG/ctA		1		-1	ARC	HGNC	HGNC:648	protein_coding	YES	CCDS34950.1	ENSP00000349022	Q7LC44		UPI0000163B0F	NM_015193.4			1/3		hmmpanther:PTHR15962																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	101	142613285	142613285	C	T	1	0	0	0	0	0	0	0	1	963	697	25	3		3	ARC	8	142613285	Silent	SNP	C	C3N-02433_TP	33270577	142613285	2525351	24	31477											
ZBTB5	0	.	GRCh38	chr9	37441873	37441873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaactcctcccgagaatGaacccctgaaggcccattct	13	7	7	14	1	1	4	0	2	1	2	3	5	3	4	5	1	2	0	5	1	5	1	novel		C3N-02433_TP	C3N-02433_NB	G	G																c.679C>T	p.His227Tyr	p.H227Y	ENST00000307750	2/2	195	129	66	174	174	0	strelka-varscan-mutect	ZBTB5,missense_variant,p.His227Tyr,ENST00000307750,NM_014872.2;GRHPR,downstream_gene_variant,,ENST00000318158,NM_012203.1;GRHPR,downstream_gene_variant,,ENST00000497693,;GRHPR,downstream_gene_variant,,ENST00000480596,;GRHPR,downstream_gene_variant,,ENST00000494290,;	A	ENST00000307750	Transcript	missense_variant	868/4627	679/2034	227/677	H/Y	Cat/Tat		1		-1	ZBTB5	HGNC	HGNC:23836	protein_coding	YES	CCDS6610.1	ENSP00000307604	O15062	Q5T942	UPI000006FAE2	NM_014872.2	deleterious(0)		2/2																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	101	37441873	37441873	G	A	1	0	0	0	0	1	0	0	0	18121	1290	45	3		3	ZBTB5	9	37441873	Missense_Mutation	SNP	G	C3N-02433_TP		37441873	100952844	25	31478											
SHB	0	.	GRCh38	chr9	37974793	37974793	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaaggggtgtcatataactGgatacctttatgctgggacc	10	12	12	7	0	1	0	1	0	0	0	1	2	1	2	2	4	3	2	2	4	5	6	novel		C3N-02433_TP	C3N-02433_NB	G	G																c.883C>T	p.Gln295Ter	p.Q295*	ENST00000377707	3/6	190	176	14	208	208	0	strelka-varscan-mutect	SHB,stop_gained,p.Gln295Ter,ENST00000377707,NM_003028.2;RP11-613M10.9,3_prime_UTR_variant,,ENST00000540557,;	A	ENST00000377707	Transcript	stop_gained	1449/2783	883/1530	295/509	Q/*	Cag/Tag		1		-1	SHB	HGNC	HGNC:10838	protein_coding	YES	CCDS43806.1	ENSP00000366936	Q15464		UPI000021143B	NM_003028.2			3/6		hmmpanther:PTHR15127:SF31,hmmpanther:PTHR15127																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	101	37974793	37974793	G	A	1	0	0	0	0	0	1	0	0	14527	1357	47	3		3	SHB	9	37974793	Nonsense_Mutation	SNP	G	C3N-02433_TP	532920	37974793	100419924	26	31479											
CNNM2	0	.	GRCh38	chr10	102919321	102919321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctcaacctggggctcatgGccctggacccgatggagctg	6	7	14	14	1	2	0	2	0	0	0	2	3	2	2	4	5	2	2	4	5	1	0	novel		C3N-02433_TP	C3N-02433_NB	G	G																c.841G>T	p.Ala281Ser	p.A281S	ENST00000369878	1/8	794	645	149	643	643	0	strelka-varscan-mutect	CNNM2,missense_variant,p.Ala281Ser,ENST00000369878,NM_017649.4;CNNM2,missense_variant,p.Ala281Ser,ENST00000433628,NM_199076.2;CNNM2,missense_variant,p.Ala281Ser,ENST00000369875,NM_199077.2;RP11-724N1.1,downstream_gene_variant,,ENST00000610034,;	T	ENST00000369878	Transcript	missense_variant	1029/15857	841/2628	281/875	A/S	Gcc/Tcc		1		1	CNNM2	HGNC	HGNC:103	protein_coding	YES	CCDS44474.1	ENSP00000358894	Q9H8M5		UPI0000231CA6	NM_017649.4	tolerated(0.16)		1/8		hmmpanther:PTHR12064:SF22,hmmpanther:PTHR12064,Pfam_domain:PF01595																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	101	102919321	102919321	G	T	1	0	0	0	0	1	0	0	0	3393	1203	42	2		2	CNNM2	10	102919321	Missense_Mutation	SNP	G	C3N-02433_TP		102919321	30878101	27	31480											
MUC5B	0	.	GRCh38	chr11	1250061	1250061	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgacctggatcctcacagAgctgaccacagcagccacta	12	5	9	15	1	1	2	1	1	0	1	2	5	2	3	4	1	3	2	4	1	1	1	novel		C3N-02433_TP	C3N-02433_NB	A	A																c.13181A>G	p.Glu4394Gly	p.E4394G	ENST00000529681	31/49	531	442	89	464	464	0	strelka-varscan-mutect	MUC5B,missense_variant,p.Glu4394Gly,ENST00000529681,NM_002458.2;RP11-532E4.2,upstream_gene_variant,,ENST00000532061,;	G	ENST00000529681	Transcript	missense_variant	13239/17911	13181/17289	4394/5762	E/G	gAg/gGg		1		1	MUC5B	HGNC	HGNC:7516	protein_coding	YES	CCDS44515.2	ENSP00000436812	Q9HC84		UPI0001DD21C7	NM_002458.2	tolerated_low_confidence(0.27)		31/49		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	101	1250061	1250061	A	G	1	0	0	0	0	1	0	0	0	9979	304	11	5		5	MUC5B	11	1250061	Missense_Mutation	SNP	A	C3N-02433_TP		1250061	133836561	28	31481											
CLCF1	0	.	GRCh38	chr11	67367481	67367481	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taggtcccagccaagctgcgGagttggtgctccaggtagcg	7	8	15	11	2	0	0	0	0	0	0	2	1	2	1	3	4	5	4	3	4	3	3	novel		C3N-02433_TP	C3N-02433_NB	G	G																c.162C>T	p.=	p.L54L	ENST00000312438	2/3	251	184	67	187	187	0	strelka-varscan-mutect	CLCF1,synonymous_variant,p.=,ENST00000312438,NM_013246.2;CLCF1,synonymous_variant,p.=,ENST00000533438,NM_001166212.1;AP003419.11,intron_variant,,ENST00000543494,;RN7SKP239,downstream_gene_variant,,ENST00000364814,;RAD9A,intron_variant,,ENST00000622583,;	A	ENST00000312438	Transcript	synonymous_variant	360/1844	162/678	54/225	L	ctC/ctT		1		-1	CLCF1	HGNC	HGNC:17412	protein_coding	YES	CCDS31617.1	ENSP00000309338	Q9UBD9		UPI000003F7F1	NM_013246.2			2/3		Gene3D:1.20.1250.10,Pfam_domain:PF06875,hmmpanther:PTHR21353,hmmpanther:PTHR21353:SF7,Superfamily_domains:SSF47266																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	101	67367481	67367481	G	A	1	0	0	0	0	0	0	0	1	3225	1161	41	3		3	CLCF1	11	67367481	Silent	SNP	G	C3N-02433_TP	66117420	67367481	67719141	29	31482											
ELMOD1	0	.	GRCh38	chr11	107630491	107630491	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaatttgtaatgaggaagcTaactggaagatgtgaactac	16	10	11	4	0	0	3	0	2	0	1	0	6	0	5	0	2	4	2	0	2	7	4	novel		C3N-02433_TP	C3N-02433_NB	T	T																c.92T>C	p.Leu31Pro	p.L31P	ENST00000265840	3/12	145	124	21	187	187	0	strelka-varscan-mutect	ELMOD1,missense_variant,p.Leu31Pro,ENST00000265840,NM_018712.3;ELMOD1,missense_variant,p.Leu31Pro,ENST00000443271,NM_001130037.1;ELMOD1,missense_variant,p.Leu25Pro,ENST00000531234,NM_001308018.1;	C	ENST00000265840	Transcript	missense_variant	357/2852	92/1005	31/334	L/P	cTa/cCa		1		1	ELMOD1	HGNC	HGNC:25334	protein_coding	YES	CCDS44723.1	ENSP00000265840	Q8N336		UPI000006DF30	NM_018712.3	deleterious(0.05)		3/12		hmmpanther:PTHR12771:SF18,hmmpanther:PTHR12771																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	101	107630491	107630491	T	C	1	0	0	0	0	1	0	0	0	4902	1522	53	5		5	ELMOD1	11	107630491	Missense_Mutation	SNP	T	C3N-02433_TP	40263010	107630491	27456131	30	31483											
OR8B12	0	.	GRCh38	chr11	124542839	124542839	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtatagaacagggaggaCactttcccttgctcgagggg	10	9	14	8	1	0	1	0	0	0	1	2	4	1	3	1	5	2	2	1	5	3	4	novel		C3N-02433_TP	C3N-02433_NB	C	C																c.816G>T	p.=	p.V272V	ENST00000306842	1/1	189	168	21	177	177	0	strelka-varscan-mutect	OR8B12,synonymous_variant,p.=,ENST00000306842,NM_001005195.1;RP11-728D14.6,upstream_gene_variant,,ENST00000533869,;	A	ENST00000306842	Transcript	synonymous_variant	841/998	816/933	272/310	V	gtG/gtT		1		-1	OR8B12	HGNC	HGNC:15307	protein_coding	YES	CCDS31711.1	ENSP00000307159	Q8NGG6	A0A126GWS7	UPI0000041E25	NM_001005195.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF267,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	LOW	1	SNV				1										PASS		.	.												A	2	1	101	124542839	124542839	C	A	1	0	0	0	0	0	0	0	1	11296	465	17	2		2	OR8B12	11	124542839	Silent	SNP	C	C3N-02433_TP	16912348	124542839	10543783	31	31484											
AEBP2	0	.	GRCh38	chr12	19439907	19439907	+	Frame_Shift_Del	DEL	G	G	-																															gcggtgggggcggcggaggcGgcggcggaggagtggggggc																								novel		C3N-02433_TP	C3N-02433_NB	G	G																c.209delG	p.Gly70AlafsTer71	p.G70Afs*71	ENST00000398864	1/9	86	51	35	79	79	0	sindel-varindel-pindel	AEBP2,frameshift_variant,p.Gly70AlafsTer71,ENST00000398864,NM_001114176.1;AEBP2,frameshift_variant,p.Gly70AlafsTer71,ENST00000266508,NM_153207.4;AEBP2,intron_variant,,ENST00000541908,;AEBP2,intron_variant,,ENST00000538425,;AEBP2,upstream_gene_variant,,ENST00000360995,NM_001267043.1;	-	ENST00000398864	Transcript	frameshift_variant	234/5099	208/1554	70/517	G/X	Ggc/gc		1		1	AEBP2	HGNC	HGNC:24051	protein_coding	YES	CCDS44841.1	ENSP00000381840	Q6ZN18		UPI00002290BB	NM_001114176.1			1/9		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF80,Low_complexity_(Seg):seg																	HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	101	19439907	19439907	G	-	1	0	1	0	1	0	0	0	0	425	1116	39	0		0	AEBP2	12	19439907	Frame_Shift_Del	DEL	G	C3N-02433_TP		19439907	113835402	32	31485											
MON2	0	.	GRCh38	chr12	62565369	62565369	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaagcacattgcaaatgcaAaatataatcaggtaatttac	19	10	5	7	0	1	0	1	0	0	0	1	0	1	0	0	1	4	4	0	1	8	6	novel		C3N-02433_TP	C3N-02433_NB	A	A																c.4165A>T	p.Lys1389Ter	p.K1389*	ENST00000393630	27/35	72	68	4	86	86	0	varscan-mutect	MON2,stop_gained,p.Lys1389Ter,ENST00000393630,NM_015026.2,NM_001278472.1;MON2,stop_gained,p.Lys1389Ter,ENST00000546600,NM_001278469.1;MON2,stop_gained,p.Lys1389Ter,ENST00000393629,NM_001278470.1;MON2,stop_gained,p.Lys1366Ter,ENST00000552738,NM_001278471.1;MON2,3_prime_UTR_variant,,ENST00000547095,;MON2,non_coding_transcript_exon_variant,,ENST00000551307,;MON2,non_coding_transcript_exon_variant,,ENST00000547287,;MON2,upstream_gene_variant,,ENST00000549539,;	T	ENST00000393630	Transcript	stop_gained	4556/13275	4165/5154	1389/1717	K/*	Aaa/Taa		1		1	MON2	HGNC	HGNC:29177	protein_coding	YES	CCDS31849.1	ENSP00000377250	Q7Z3U7		UPI00001AEA4C	NM_015026.2,NM_001278472.1			27/35		Pfam_domain:PF16206,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF138																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	101	62565369	62565369	A	T	1	0	0	0	0	0	1	0	0	9664	15	1	4		4	MON2	12	62565369	Nonsense_Mutation	SNP	A	C3N-02433_TP	43125462	62565369	70709940	33	31486											
ANKS1B	0	.	GRCh38	chr12	99246808	99246808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccatggagcaggcctgcaaAttgcccaggatcatattctt	10	11	9	11	0	2	0	1	0	1	0	3	2	3	2	3	3	3	2	3	3	2	4	rs758891412		C3N-02433_TP	C3N-02433_NB	A	A																c.1813T>C	p.Phe605Leu	p.F605L	ENST00000547776	13/26	131	71	60	102	102	0	strelka-varscan-mutect	ANKS1B,missense_variant,p.Phe605Leu,ENST00000547776,NM_152788.4;ANKS1B,missense_variant,p.Phe185Leu,ENST00000547010,;ANKS1B,downstream_gene_variant,,ENST00000549866,;ANKS1B,upstream_gene_variant,,ENST00000550778,;ANKS1B,non_coding_transcript_exon_variant,,ENST00000550833,;ANKS1B,non_coding_transcript_exon_variant,,ENST00000546631,;ANKS1B,non_coding_transcript_exon_variant,,ENST00000550157,;	G	ENST00000547776	Transcript	missense_variant	1813/3885	1813/3747	605/1248	F/L	Ttt/Ctt	rs758891412	1		-1	ANKS1B	HGNC	HGNC:24600	protein_coding	YES	CCDS55872.1	ENSP00000449629	Q7Z6G8		UPI00003FE521	NM_152788.4	deleterious(0)		13/26		hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3																	MODERATE	1	SNV	1			1										PASS		rs758891412	.												G	3	3	101	99246808	99246808	A	G	1	0	0	0	0	1	0	0	0	795	101	4	5		5	ANKS1B	12	99246808	Missense_Mutation	SNP	A	C3N-02433_TP	36681439	99246808	34028501	34	31487											
SETD1B	0	.	GRCh38	chr12	121823121	121823121	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctcttgccctcccccAatgaagaggaagccgggccg	7	6	12	16	2	1	2	0	1	1	1	2	3	2	3	6	3	2	0	6	3	3	1	novel		C3N-02433_TP	C3N-02433_NB	A	A																c.4413A>C	p.=	p.P1471P	ENST00000542440	13/18	44	38	6	56	56	0	varscan-mutect	SETD1B,synonymous_variant,p.=,ENST00000542440,NM_015048.1;SETD1B,synonymous_variant,p.=,ENST00000604567,;SETD1B,synonymous_variant,p.=,ENST00000619791,;SETD1B,synonymous_variant,p.=,ENST00000267197,;	C	ENST00000542440	Transcript	synonymous_variant	4481/8185	4413/5772	1471/1923	P	ccA/ccC		1		1	SETD1B	HGNC	HGNC:29187	protein_coding	YES	CCDS53838.1	ENSP00000442924	Q9UPS6		UPI00006C12ED	NM_015048.1			13/18		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF296,Low_complexity_(Seg):seg																	LOW	1	SNV	5			1										PASS		rs1268883440	.												C	2	2	101	121823121	121823121	A	C	1	0	0	0	0	0	0	0	1	14408	117	5	5		5	SETD1B	12	121823121	Silent	SNP	A	C3N-02433_TP	22576313	121823121	11452188	35	31488											
MYCBP2	0	.	GRCh38	chr13	77180211	77180211	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagacgaggtgggaggagaaGagttcattttctctcctcag	10	10	14	7	1	3	3	2	0	1	3	5	7	4	4	1	3	0	1	1	3	1	3	rs574817467		C3N-02433_TP	C3N-02433_NB	G	G																c.4935C>G	p.=	p.L1645L	ENST00000544440	34/83	231	215	16	231	231	0	strelka-varscan-mutect	MYCBP2,synonymous_variant,p.=,ENST00000357337,NM_015057.4;MYCBP2,synonymous_variant,p.=,ENST00000544440,;	C	ENST00000544440	Transcript	synonymous_variant	4953/14664	4935/13923	1645/4640	L	ctC/ctG	rs574817467	1		-1	MYCBP2	HGNC	HGNC:23386	protein_coding	YES		ENSP00000444596	O75592		UPI0000212757				34/83																			LOW	1	SNV	1			1										PASS		rs574817467	.												C	2	2	101	77180211	77180211	G	C	1	0	0	0	0	0	0	0	1	10018	929	33	4		4	MYCBP2	13	77180211	Silent	SNP	G	C3N-02433_TP		77180211	37184117	36	31489											
MYO1E	0	.	GRCh38	chr15	59223116	59223116	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagctgatgtttcccaGgtggagaatacccgccacta	10	11	10	10	1	0	3	0	2	0	1	1	4	1	3	3	2	2	2	3	2	4	4	novel		C3N-02433_TP	C3N-02433_NB	G	G																c.853C>G	p.Leu285Val	p.L285V	ENST00000288235	9/28	295	195	100	257	257	0	strelka-varscan-mutect	MYO1E,missense_variant,p.Leu285Val,ENST00000288235,NM_004998.3;MYO1E,missense_variant,p.Leu115Val,ENST00000559269,;MYO1E,upstream_gene_variant,,ENST00000559489,;MYO1E,non_coding_transcript_exon_variant,,ENST00000558814,;MYO1E,downstream_gene_variant,,ENST00000558571,;	C	ENST00000288235	Transcript	missense_variant	1253/8673	853/3327	285/1108	L/V	Ctg/Gtg		1		-1	MYO1E	HGNC	HGNC:7599	protein_coding	YES	CCDS32254.1	ENSP00000288235	Q12965	Q4KMR3	UPI00001FE590	NM_004998.3	deleterious(0.03)		9/28		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF288,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	101	59223116	59223116	G	C	1	0	0	0	0	1	0	0	0	10073	991	35	4		4	MYO1E	15	59223116	Missense_Mutation	SNP	G	C3N-02433_TP		59223116	42768073	37	31490											
CYP1A2	0	.	GRCh38	chr15	74750275	74750275	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagcaggttgcaggagctGatggcagggcctgggcactt	8	8	16	9	0	1	1	1	1	0	0	1	2	1	2	1	5	3	6	1	5	0	2	novel		C3N-02433_TP	C3N-02433_NB	G	G																c.537G>A	p.=	p.L179L	ENST00000343932	2/7	240	223	17	223	223	0	strelka-varscan-mutect	CYP1A2,synonymous_variant,p.=,ENST00000343932,NM_000761.4;	A	ENST00000343932	Transcript	synonymous_variant	600/2728	537/1551	179/516	L	ctG/ctA		1		1	CYP1A2	HGNC	HGNC:2596	protein_coding	YES	CCDS32293.1	ENSP00000342007	P05177		UPI0000073775	NM_000761.4			2/7		hmmpanther:PTHR24299:SF7,hmmpanther:PTHR24299,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	101	74750275	74750275	G	A	1	0	0	0	0	0	0	0	1	3953	1277	45	3		3	CYP1A2	15	74750275	Silent	SNP	G	C3N-02433_TP	15527159	74750275	27240914	38	31491											
RHCG	0	.	GRCh38	chr15	89483090	89483090	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagcaggttaaggagaatgaActcattcacagcgaagaggg	15	7	13	6	1	2	3	2	1	0	2	2	5	2	3	0	3	3	2	0	3	5	3	novel		C3N-02433_TP	C3N-02433_NB	A	A																c.499T>G	p.Phe167Val	p.F167V	ENST00000268122	3/11	52	37	15	44	44	0	strelka-mutect	RHCG,missense_variant,p.Phe167Val,ENST00000268122,NM_001321041.1,NM_016321.2;RHCG,upstream_gene_variant,,ENST00000558360,;RHCG,missense_variant,p.Phe167Val,ENST00000560081,;RHCG,3_prime_UTR_variant,,ENST00000558184,;RHCG,intron_variant,,ENST00000558030,;RHCG,upstream_gene_variant,,ENST00000559638,;	C	ENST00000268122	Transcript	missense_variant	568/1982	499/1440	167/479	F/V	Ttc/Gtc		1		-1	RHCG	HGNC	HGNC:18140	protein_coding	YES	CCDS10351.1	ENSP00000268122	Q9UBD6		UPI00000343FD	NM_001321041.1,NM_016321.2	deleterious(0.03)		3/11		Superfamily_domains:0044218,Gene3D:1.10.3430.10,Pfam_domain:PF00909,Prints_domain:PR00342,hmmpanther:PTHR11730,hmmpanther:PTHR11730:SF30,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	101	89483090	89483090	A	C	1	0	0	0	0	1	0	0	0	13498	43	2	5		5	RHCG	15	89483090	Missense_Mutation	SNP	A	C3N-02433_TP	14732815	89483090	12508099	39	31492											
RHCG	0	.	GRCh38	chr15	89483215	89483215	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagaagtcagcgttgatgAggctgtggggagacaggcca	10	6	17	8	2	1	4	1	2	0	2	1	5	1	4	1	4	1	3	1	4	1	1	novel		C3N-02433_TP	C3N-02433_NB	A	A																c.374T>C	p.Leu125Pro	p.L125P	ENST00000268122	3/11	43	31	12	26	26	0	strelka-varscan-mutect	RHCG,missense_variant,p.Leu125Pro,ENST00000268122,NM_001321041.1,NM_016321.2;RHCG,upstream_gene_variant,,ENST00000558360,;RHCG,missense_variant,p.Leu125Pro,ENST00000560081,;RHCG,missense_variant,p.Leu125Pro,ENST00000558030,;RHCG,splice_region_variant,,ENST00000558184,;RHCG,upstream_gene_variant,,ENST00000559638,;	G	ENST00000268122	Transcript	missense_variant,splice_region_variant	443/1982	374/1440	125/479	L/P	cTc/cCc		1		-1	RHCG	HGNC	HGNC:18140	protein_coding	YES	CCDS10351.1	ENSP00000268122	Q9UBD6		UPI00000343FD	NM_001321041.1,NM_016321.2	deleterious(0.01)		3/11		Superfamily_domains:0044218,Gene3D:1.10.3430.10,Pfam_domain:PF00909,hmmpanther:PTHR11730,hmmpanther:PTHR11730:SF30,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		rs1409127242	.												G	3	3	101	89483215	89483215	A	G	1	0	0	0	0	1	0	0	0	13498	318	11	5		5	RHCG	15	89483215	Missense_Mutation	SNP	A	C3N-02433_TP	125	89483215	12507974	40	31493											
CDH5	0	.	GRCh38	chr16	66402844	66402844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagcccccgcggcccgCgctggacgcccggccttccc	3	3	13	22	6	0	0	0	0	0	0	1	1	1	1	7	4	1	1	7	4	1	1	novel		C3N-02433_TP	C3N-02433_NB	C	C																c.2030C>T	p.Ala677Val	p.A677V	ENST00000341529	12/12	269	255	14	167	167	0	strelka-varscan-mutect	CDH5,missense_variant,p.Ala677Val,ENST00000341529,NM_001795.3;CDH5,missense_variant,p.Ala562Val,ENST00000614547,;CDH5,missense_variant,p.Ala116Val,ENST00000539168,;CDH5,3_prime_UTR_variant,,ENST00000565334,;	T	ENST00000341529	Transcript	missense_variant	2178/4120	2030/2355	677/784	A/V	gCg/gTg		1		1	CDH5	HGNC	HGNC:1764	protein_coding	YES	CCDS10804.1	ENSP00000344115	P33151		UPI000016B272	NM_001795.3	tolerated(0.26)		12/12		hmmpanther:PTHR24027:SF89,hmmpanther:PTHR24027,Pfam_domain:PF01049																	MODERATE	1	SNV	1			1										PASS		rs1201962235	.												T	3	4	101	66402844	66402844	C	T	1	0	0	0	0	1	0	0	0	2816	768	27	1		1	CDH5	16	66402844	Missense_Mutation	SNP	C	C3N-02433_TP		66402844	23935501	41	31494											
ZNF23	0	.	GRCh38	chr16	71448842	71448842	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcttttccacattcagTgcattcatagggtttctcac	9	14	8	10	0	3	0	3	0	1	0	5	1	4	0	1	2	1	3	1	2	2	6	novel		C3N-02433_TP	C3N-02433_NB	T	T																c.1183A>G	p.Thr395Ala	p.T395A	ENST00000393539	6/6	208	177	31	170	170	0	strelka-varscan-mutect	ZNF23,missense_variant,p.Thr395Ala,ENST00000393539,NM_145911.2;ZNF23,missense_variant,p.Thr395Ala,ENST00000357254,NM_001304492.1;ZNF23,missense_variant,p.Thr337Ala,ENST00000564528,NM_001304493.1,NM_001304494.1;ZNF23,missense_variant,p.Thr395Ala,ENST00000428724,;ZNF23,3_prime_UTR_variant,,ENST00000497160,;ZNF23,3_prime_UTR_variant,,ENST00000358700,;ZNF23,downstream_gene_variant,,ENST00000567340,;ZNF23,downstream_gene_variant,,ENST00000565718,;ZNF23,non_coding_transcript_exon_variant,,ENST00000539742,;AC010547.9,3_prime_UTR_variant,,ENST00000561908,;ZNF23,non_coding_transcript_exon_variant,,ENST00000576258,;RP11-510M2.8,upstream_gene_variant,,ENST00000571789,;	C	ENST00000393539	Transcript	missense_variant	1997/3242	1183/1932	395/643	T/A	Act/Gct		1		-1	ZNF23	HGNC	HGNC:13023	protein_coding	YES	CCDS10900.1	ENSP00000377171	P17027		UPI000013C406	NM_145911.2	tolerated(0.3)		6/6		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF180,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	101	71448842	71448842	T	C	1	0	0	0	0	1	0	0	0	18360	1696	59	5		5	ZNF23	16	71448842	Missense_Mutation	SNP	T	C3N-02433_TP	5045998	71448842	18889503	42	31495											
NCOR1	0	.	GRCh38	chr17	16048970	16048970	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagacgtgactcctctcTggggattttccaggcctact	8	11	11	11	1	1	2	0	1	1	1	4	5	3	3	3	3	1	0	3	3	2	3			C3N-02433_TP	C3N-02433_NB	T	T																c.6411A>C	p.=	p.P2137P	ENST00000268712	41/46	105	77	28	67	67	0	strelka-varscan-mutect	NCOR1,synonymous_variant,p.=,ENST00000268712,NM_006311.3;NCOR1,synonymous_variant,p.=,ENST00000395857,;NCOR1,synonymous_variant,p.=,ENST00000395851,NM_001190440.1;NCOR1,synonymous_variant,p.=,ENST00000395849,;NCOR1,synonymous_variant,p.=,ENST00000580554,;NCOR1,synonymous_variant,p.=,ENST00000579606,;TTC19,downstream_gene_variant,,ENST00000470649,;NCOR1,upstream_gene_variant,,ENST00000579573,;NCOR1,non_coding_transcript_exon_variant,,ENST00000470782,;NCOR1,non_coding_transcript_exon_variant,,ENST00000458113,;NCOR1,non_coding_transcript_exon_variant,,ENST00000464381,;NCOR1,non_coding_transcript_exon_variant,,ENST00000583234,;RPLP1P11,downstream_gene_variant,,ENST00000453002,;	G	ENST00000268712	Transcript	synonymous_variant	6669/10720	6411/7323	2137/2440	P	ccA/ccC	COSM472342,COSM4857479	1		-1	NCOR1	HGNC	HGNC:7672	protein_coding	YES	CCDS11175.1	ENSP00000268712	O75376	A0A024RD47	UPI000013D7D5	NM_006311.3			41/46		hmmpanther:PTHR13992:SF5,hmmpanther:PTHR13992											1,1						LOW	1	SNV	1		1,1	1										PASS		rs927584857	.												G	2	3	101	16048970	16048970	T	G	1	0	0	0	0	0	0	0	1	10254	1567	55	5		5	NCOR1	17	16048970	Silent	SNP	T	C3N-02433_TP		16048970	67208471	43	31496											
GNA13	0	.	GRCh38	chr17	65014285	65014285	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataagctgcttgaggttgTcatgcagaatagtatccttc	10	13	10	8	0	1	2	1	1	0	1	3	2	2	2	1	1	3	6	1	1	4	6	novel		C3N-02433_TP	C3N-02433_NB	T	T																c.1106A>G	p.Asp369Gly	p.D369G	ENST00000439174	4/4	179	168	11	97	97	0	strelka-varscan-mutect	GNA13,missense_variant,p.Asp369Gly,ENST00000439174,NM_006572.5;GNA13,missense_variant,p.Asp274Gly,ENST00000541118,NM_001282425.1;	C	ENST00000439174	Transcript	missense_variant	1352/4922	1106/1134	369/377	D/G	gAc/gGc		1		-1	GNA13	HGNC	HGNC:4381	protein_coding	YES	CCDS11661.1	ENSP00000400717	Q14344	A0A024R8M0	UPI0000073EBA	NM_006572.5	tolerated(0.32)		4/4		hmmpanther:PTHR10218:SF85,hmmpanther:PTHR10218,Gene3D:3.40.50.300,SMART_domains:SM00275,Superfamily_domains:SSF52540,Prints_domain:PR00440																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	101	65014285	65014285	T	C	1	0	0	0	0	1	0	0	0	6381	1667	58	5		5	GNA13	17	65014285	Missense_Mutation	SNP	T	C3N-02433_TP	48965315	65014285	18243156	44	31497											
B3GNTL1	0	.	GRCh38	chr17	82965735	82965735	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcaccgtggggccattTgaggtgaaaacctagaagca	13	8	12	8	1	1	4	1	3	0	1	1	4	1	4	3	3	2	1	3	3	4	2	novel		C3N-02433_TP	C3N-02433_NB	T	T																c.516A>T	p.=	p.S172S	ENST00000320865	7/13	309	244	65	223	223	0	strelka-varscan-mutect	B3GNTL1,synonymous_variant,p.=,ENST00000576599,;B3GNTL1,synonymous_variant,p.=,ENST00000320865,NM_001009905.1;B3GNTL1,non_coding_transcript_exon_variant,,ENST00000571954,;B3GNTL1,intron_variant,,ENST00000570947,;B3GNTL1,5_prime_UTR_variant,,ENST00000572977,;B3GNTL1,upstream_gene_variant,,ENST00000571394,;	A	ENST00000320865	Transcript	synonymous_variant	530/1383	516/1086	172/361	S	tcA/tcT		1		-1	B3GNTL1	HGNC	HGNC:21727	protein_coding	YES	CCDS32778.1	ENSP00000319979	Q67FW5	A0A024R8X6	UPI00003B5C5A	NM_001009905.1			7/13		Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR22916,hmmpanther:PTHR22916:SF3,Superfamily_domains:SSF53448																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	101	82965735	82965735	T	A	1	0	0	0	0	0	0	0	1	1421	1799	63	4		4	B3GNTL1	17	82965735	Silent	SNP	T	C3N-02433_TP	17951450	82965735	291706	45	31498											
VAPA	0	.	GRCh38	chr18	9954190	9954190	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattttcattggattcttTctagggaaattcatcttgta	9	18	7	7	0	5	0	2	0	3	0	5	2	5	2	1	2	0	1	1	2	3	9	novel		C3N-02433_TP	C3N-02433_NB	T	T																c.864T>C	p.=	p.F288F	ENST00000340541	7/7	94	70	24	146	146	0	strelka-varscan-mutect	VAPA,synonymous_variant,p.=,ENST00000400000,NM_194434.2;VAPA,synonymous_variant,p.=,ENST00000340541,NM_003574.5;VAPA,downstream_gene_variant,,ENST00000584796,;VAPA,non_coding_transcript_exon_variant,,ENST00000583475,;VAPA,non_coding_transcript_exon_variant,,ENST00000583879,;VAPA,downstream_gene_variant,,ENST00000577539,;	C	ENST00000340541	Transcript	synonymous_variant	1059/1227	864/885	288/294	F	ttT/ttC		1		1	VAPA	HGNC	HGNC:12648	protein_coding	YES	CCDS11847.2	ENSP00000345656	Q9P0L0		UPI000059D45E	NM_003574.5			7/7		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10809,hmmpanther:PTHR10809:SF40,PIRSF_domain:PIRSF019693																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	101	9954190	9954190	T	C	1	0	0	0	0	0	0	0	1	17666	1780	62	5		5	VAPA	18	9954190	Silent	SNP	T	C3N-02433_TP		9954190	70419095	46	31499											
EIF3G	0	.	GRCh38	chr19	10117166	10117166	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccgggggggtcaaactctGagttcccgaacttcttccag	7	10	12	12	2	3	1	1	1	2	0	6	2	6	1	3	3	2	1	3	3	2	3	novel		C3N-02433_TP	C3N-02433_NB	G	G																c.323C>G	p.Ser108Ter	p.S108*	ENST00000253108	6/11	93	72	21	52	52	0	strelka-varscan-mutect	EIF3G,stop_gained,p.Ser108Ter,ENST00000253108,NM_003755.3;EIF3G,stop_gained,p.Ser108Ter,ENST00000589454,;EIF3G,stop_gained,p.Ser110Ter,ENST00000588709,;EIF3G,intron_variant,,ENST00000587146,;PPAN-P2RY11,downstream_gene_variant,,ENST00000428358,NM_001198690.1;PPAN-P2RY11,downstream_gene_variant,,ENST00000393796,NM_001040664.2;P2RY11,downstream_gene_variant,,ENST00000321826,NM_002566.4;EIF3G,upstream_gene_variant,,ENST00000593054,;P2RY11,downstream_gene_variant,,ENST00000471843,;EIF3G,downstream_gene_variant,,ENST00000587168,;EIF3G,synonymous_variant,p.=,ENST00000593095,;EIF3G,3_prime_UTR_variant,,ENST00000593066,;EIF3G,3_prime_UTR_variant,,ENST00000587993,;EIF3G,non_coding_transcript_exon_variant,,ENST00000589009,;EIF3G,non_coding_transcript_exon_variant,,ENST00000589674,;EIF3G,upstream_gene_variant,,ENST00000590158,;EIF3G,downstream_gene_variant,,ENST00000592485,;EIF3G,downstream_gene_variant,,ENST00000590940,;EIF3G,downstream_gene_variant,,ENST00000587681,;	C	ENST00000253108	Transcript	stop_gained	366/1103	323/963	108/320	S/*	tCa/tGa		1		-1	EIF3G	HGNC	HGNC:3274	protein_coding	YES	CCDS12227.1	ENSP00000253108	O75821		UPI000012D2FE	NM_003755.3			6/11		HAMAP:MF_03006,Pfam_domain:PF12353,PIRSF_domain:PIRSF037949,hmmpanther:PTHR10352																	HIGH	1	SNV	1			1										PASS		.	.												C	4	2	101	10117166	10117166	G	C	1	0	0	0	0	0	1	0	0	4851	1294	45	4		4	EIF3G	19	10117166	Nonsense_Mutation	SNP	G	C3N-02433_TP		10117166	48500450	47	31500											
MBOAT7	0	.	GRCh38	chr19	54188455	54188455	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctttcttaaagaggaagccGatggggatggagataagaag	14	8	15	4	1	1	3	0	0	1	3	1	7	1	5	1	4	1	1	1	4	5	3	novel		C3N-02433_TP	C3N-02433_NB	G	G																c.54C>T	p.=	p.I18I	ENST00000245615	2/8	176	165	11	128	128	0	strelka-varscan-mutect	MBOAT7,synonymous_variant,p.=,ENST00000245615,NM_024298.4;MBOAT7,synonymous_variant,p.=,ENST00000391754,NM_001146082.2;MBOAT7,synonymous_variant,p.=,ENST00000414665,;MBOAT7,synonymous_variant,p.=,ENST00000453320,;MBOAT7,5_prime_UTR_variant,,ENST00000431666,NM_001146083.2;MBOAT7,intron_variant,,ENST00000338624,NM_001146056.2;TSEN34,upstream_gene_variant,,ENST00000302937,NM_024075.4;TSEN34,upstream_gene_variant,,ENST00000429671,NM_001282333.1;MBOAT7,upstream_gene_variant,,ENST00000495279,;TSEN34,upstream_gene_variant,,ENST00000396383,NM_001282332.1;TSEN34,upstream_gene_variant,,ENST00000396388,NM_001077446.3;TSEN34,upstream_gene_variant,,ENST00000455798,;TSEN34,upstream_gene_variant,,ENST00000456872,;MBOAT7,upstream_gene_variant,,ENST00000449249,;MBOAT7,non_coding_transcript_exon_variant,,ENST00000495968,;MBOAT7,intron_variant,,ENST00000474910,;MBOAT7,synonymous_variant,p.=,ENST00000437868,;MBOAT7,non_coding_transcript_exon_variant,,ENST00000491216,;TSEN34,upstream_gene_variant,,ENST00000496583,;MBOAT7,upstream_gene_variant,,ENST00000464098,;	A	ENST00000245615	Transcript	synonymous_variant	535/2529	54/1419	18/472	I	atC/atT		1		-1	MBOAT7	HGNC	HGNC:15505	protein_coding	YES	CCDS12883.1	ENSP00000245615	Q96N66		UPI000013CBAC	NM_024298.4			2/8		Transmembrane_helices:TMhelix,hmmpanther:PTHR13906:SF16,hmmpanther:PTHR13906																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	101	54188455	54188455	G	A	1	0	0	0	0	0	0	0	1	9291	1048	37	1		1	MBOAT7	19	54188455	Silent	SNP	G	C3N-02433_TP	44071289	54188455	4429161	48	31501											
RSPO4	0	.	GRCh38	chr20	968088	968088	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggtggaacagccgttctCctctgagcagatgatacagc	10	8	12	11	1	2	3	0	2	2	1	3	4	2	4	2	2	5	3	2	2	2	2	rs753113241		C3N-02433_TP	C3N-02433_NB	C	C																c.130G>T	p.Glu44Ter	p.E44*	ENST00000217260	2/5	379	352	27	282	282	0	strelka-varscan-mutect	RSPO4,stop_gained,p.Glu44Ter,ENST00000217260,NM_001029871.3;RSPO4,stop_gained,p.Glu44Ter,ENST00000400634,NM_001040007.2;	A	ENST00000217260	Transcript	stop_gained	227/2707	130/705	44/234	E/*	Gag/Tag	rs753113241	1		-1	RSPO4	HGNC	HGNC:16175	protein_coding	YES	CCDS42846.1	ENSP00000217260	Q2I0M5		UPI00001D8320	NM_001029871.3			2/5		hmmpanther:PTHR23275,hmmpanther:PTHR23275:SF51,Pfam_domain:PF15913,Gene3D:2.10.220.10,SMART_domains:SM00261,Superfamily_domains:SSF57184																	HIGH	1	SNV	2			1										PASS		rs753113241	.												A	4	1	101	968088	968088	C	A	1	0	0	0	0	0	1	0	0	13970	864	30	2		2	RSPO4	20	968088	Nonsense_Mutation	SNP	C	C3N-02433_TP		968088	63476079	49	31502											
RABL2B	0	.	GRCh38	chr22	50768787	50768787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccagcccctcagctgtgggGagaggccgcctcctctgatg	5	7	13	16	1	2	2	1	1	1	1	3	3	3	2	6	3	2	1	6	3	0	0	novel		C3N-02433_TP	C3N-02433_NB	G	G																c.706C>T	p.Pro236Ser	p.P236S	ENST00000395593	10/10	324	283	41	219	218	1	varscan-mutect	RABL2B,missense_variant,p.Pro227Ser,ENST00000395595,NM_001130921.1;RABL2B,missense_variant,p.Pro236Ser,ENST00000395593,NM_001130923.1;RABL2B,missense_variant,p.Pro226Ser,ENST00000395598,NM_001130922.1,NM_007081.2;RABL2B,missense_variant,p.Pro227Ser,ENST00000354869,NM_001130920.1,NM_001130919.1,NM_001003789.1;RABL2B,missense_variant,p.Pro163Ser,ENST00000395591,;RABL2B,missense_variant,p.Pro226Ser,ENST00000435118,;RABL2B,downstream_gene_variant,,ENST00000395590,;RABL2B,non_coding_transcript_exon_variant,,ENST00000465063,;RPL23AP82,intron_variant,,ENST00000496652,;RABL2B,3_prime_UTR_variant,,ENST00000436958,;RABL2B,3_prime_UTR_variant,,ENST00000425098,;RABL2B,downstream_gene_variant,,ENST00000464678,;RABL2B,downstream_gene_variant,,ENST00000482308,;	A	ENST00000395593	Transcript	missense_variant	1060/2341	706/717	236/238	P/S	Ccc/Tcc		1		-1	RABL2B	HGNC	HGNC:9800	protein_coding	YES	CCDS46738.1	ENSP00000378958	Q9UNT1		UPI00004214D6	NM_001130923.1	tolerated_low_confidence(0.14)		10/10		PROSITE_profiles:PS51419																	MODERATE	1	SNV	1			1										PASS		rs1185359244	.												A	3	1	101	50768787	50768787	G	A	1	0	0	0	0	1	0	0	0	13130	1174	41	3		3	RABL2B	22	50768787	Missense_Mutation	SNP	G	C3N-02433_TP		50768787	49681	50	31503			1	33		3	3	83	G		1.091874e-08
RABL2B	0	.	GRCh38	chr22	50768804	50768804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggagaggccgcctcctctGatggggtctcgatgctgctg	4	9	17	11	2	2	2	0	1	2	1	4	4	3	2	3	5	2	2	3	5	0	0	novel		C3N-02433_TP	C3N-02433_NB	G	G																c.689C>T	p.Ser230Leu	p.S230L	ENST00000395593	10/10	364	310	54	253	253	0	strelka-varscan-mutect	RABL2B,missense_variant,p.Ser221Leu,ENST00000395595,NM_001130921.1;RABL2B,missense_variant,p.Ser230Leu,ENST00000395593,NM_001130923.1;RABL2B,missense_variant,p.Ser220Leu,ENST00000395598,NM_001130922.1,NM_007081.2;RABL2B,missense_variant,p.Ser221Leu,ENST00000354869,NM_001130920.1,NM_001130919.1,NM_001003789.1;RABL2B,missense_variant,p.Ser157Leu,ENST00000395591,;RABL2B,missense_variant,p.Ser220Leu,ENST00000435118,;RABL2B,downstream_gene_variant,,ENST00000395590,;RABL2B,non_coding_transcript_exon_variant,,ENST00000465063,;RPL23AP82,intron_variant,,ENST00000496652,;RABL2B,3_prime_UTR_variant,,ENST00000436958,;RABL2B,3_prime_UTR_variant,,ENST00000425098,;RABL2B,downstream_gene_variant,,ENST00000464678,;RABL2B,downstream_gene_variant,,ENST00000482308,;	A	ENST00000395593	Transcript	missense_variant	1043/2341	689/717	230/238	S/L	tCa/tTa		1		-1	RABL2B	HGNC	HGNC:9800	protein_coding	YES	CCDS46738.1	ENSP00000378958	Q9UNT1		UPI00004214D6	NM_001130923.1	deleterious_low_confidence(0.02)		10/10		PROSITE_profiles:PS51419																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	101	50768804	50768804	G	A	1	0	0	0	0	1	0	0	0	13130	1294	45	3		3	RABL2B	22	50768804	Missense_Mutation	SNP	G	C3N-02433_TP	17	50768804	49664	51	31504			1	33		3	3	83	G		1.091874e-08
RABL2B	0	.	GRCh38	chr22	50768869	50768869	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcttcctgctccaagctGaagttctgtgaacaaggtcg	8	12	9	12	1	2	2	0	2	2	0	6	2	5	2	3	1	3	3	3	1	4	2	novel		C3N-02433_TP	C3N-02433_NB	G	G																c.624C>T	p.=	p.F208F	ENST00000395593	10/10	182	157	25	116	116	0	varscan-mutect	RABL2B,synonymous_variant,p.=,ENST00000395595,NM_001130921.1;RABL2B,synonymous_variant,p.=,ENST00000395593,NM_001130923.1;RABL2B,synonymous_variant,p.=,ENST00000395598,NM_001130922.1,NM_007081.2;RABL2B,synonymous_variant,p.=,ENST00000354869,NM_001130920.1,NM_001130919.1,NM_001003789.1;RABL2B,synonymous_variant,p.=,ENST00000395591,;RABL2B,synonymous_variant,p.=,ENST00000435118,;RABL2B,downstream_gene_variant,,ENST00000395590,;RABL2B,non_coding_transcript_exon_variant,,ENST00000465063,;RPL23AP82,intron_variant,,ENST00000496652,;RABL2B,3_prime_UTR_variant,,ENST00000436958,;RABL2B,3_prime_UTR_variant,,ENST00000425098,;RABL2B,downstream_gene_variant,,ENST00000464678,;RABL2B,downstream_gene_variant,,ENST00000482308,;	A	ENST00000395593	Transcript	synonymous_variant	978/2341	624/717	208/238	F	ttC/ttT		1		-1	RABL2B	HGNC	HGNC:9800	protein_coding	YES	CCDS46738.1	ENSP00000378958	Q9UNT1		UPI00004214D6	NM_001130923.1			10/10		PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF263,Low_complexity_(Seg):seg,SMART_domains:SM00176																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	101	50768869	50768869	G	A	1	0	0	0	0	0	0	0	1	13130	1304	45	3		3	RABL2B	22	50768869	Silent	SNP	G	C3N-02433_TP	65	50768869	49599	52	31505			1	33		3	3	83	G		1.091874e-08
CLCN4	0	.	GRCh38	chrX	10206431	10206431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctaatcaagacagtcaCgctggtgctggtagtgtcct	8	11	11	11	1	2	1	2	0	0	1	3	1	3	1	2	2	2	4	2	2	3	2	novel		C3N-02433_TP	C3N-02433_NB	C	C																c.629C>T	p.Thr210Met	p.T210M	ENST00000380833	7/13	410	328	82	301	301	0	strelka-varscan-mutect	CLCN4,missense_variant,p.Thr210Met,ENST00000380833,NM_001830.3;CLCN4,missense_variant,p.Thr116Met,ENST00000421085,NM_001256944.1;CLCN4,missense_variant,p.Thr210Met,ENST00000380829,;CLCN4,intron_variant,,ENST00000454850,;	T	ENST00000380833	Transcript	missense_variant	1020/6750	629/2283	210/760	T/M	aCg/aTg		1		1	CLCN4	HGNC	HGNC:2022	protein_coding	YES	CCDS14137.1	ENSP00000370213	P51793		UPI0000127A99	NM_001830.3	deleterious(0.01)		7/13		Gene3D:1otsB00,Pfam_domain:PF00654,Prints_domain:PR00762,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF18,Low_complexity_(Seg):seg,Superfamily_domains:SSF81340,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	101	10206431	10206431	C	T	1	0	0	0	0	1	0	0	0	3229	536	19	1		1	CLCN4	23	10206431	Missense_Mutation	SNP	C	C3N-02433_TP		10206431	145834464	53	31506											
GSPT2	0	.	GRCh38	chrX	51743838	51743838	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgccgcggagttcgtgccgtCcttcctgcggggcccgactc	2	8	14	17	7	0	0	0	0	0	0	4	2	2	1	5	3	2	1	5	3	0	2	novel		C3N-02433_TP	C3N-02433_NB	C	C																c.212C>G	p.Ser71Cys	p.S71C	ENST00000340438	1/1	109	88	21	99	99	0	strelka-varscan-mutect	GSPT2,missense_variant,p.Ser71Cys,ENST00000340438,NM_018094.4;	G	ENST00000340438	Transcript	missense_variant	408/2802	212/1887	71/628	S/C	tCc/tGc		1		1	GSPT2	HGNC	HGNC:4622	protein_coding	YES	CCDS14336.1	ENSP00000341247	Q8IYD1		UPI0000073899	NM_018094.4	deleterious_low_confidence(0.02)		1/1																			MODERATE	1	SNV				1										PASS		.	.												G	3	3	101	51743838	51743838	C	G	1	0	0	0	0	1	0	0	0	6711	855	30	4		4	GSPT2	23	51743838	Missense_Mutation	SNP	C	C3N-02433_TP	41537407	51743838	104297057	54	31507											
TCEAL5	0	.	GRCh38	chrX	103274115	103274115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgagcccttgacacatctCcacattctctcatcatctcc	8	12	3	18	0	5	2	2	2	3	0	8	2	5	2	4	0	1	0	4	0	0	2	novel		C3N-02433_TP	C3N-02433_NB	C	C																c.449G>A	p.Gly150Glu	p.G150E	ENST00000372680	3/3	384	363	21	324	323	1	varscan-mutect	TCEAL5,missense_variant,p.Gly150Glu,ENST00000372680,NM_001012979.2;	T	ENST00000372680	Transcript	missense_variant	744/1168	449/621	150/206	G/E	gGa/gAa		1		-1	TCEAL5	HGNC	HGNC:22282	protein_coding	YES	CCDS35356.1	ENSP00000361765	Q5H9L2		UPI00001998F8	NM_001012979.2	tolerated(0.13)		3/3		hmmpanther:PTHR14754,hmmpanther:PTHR14754:SF17,Pfam_domain:PF04538																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	101	103274115	103274115	C	T	1	0	0	0	0	1	0	0	0	16081	855	30	3		3	TCEAL5	23	103274115	Missense_Mutation	SNP	C	C3N-02433_TP	51530277	103274115	52766780	55	31508											
MAP7D3	0	.	GRCh38	chrX	136231695	136231695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggggctacttctgcgCtccccttgggaggtgcttcc	2	12	13	14	1	1	0	0	0	1	0	3	1	3	1	4	4	3	3	4	4	1	5	novel		C3N-02433_TP	C3N-02433_NB	C	C																c.1262G>A	p.Ser421Asn	p.S421N	ENST00000316077	8/19	240	210	30	210	210	0	strelka-varscan-mutect	MAP7D3,missense_variant,p.Ser421Asn,ENST00000316077,NM_024597.3;MAP7D3,missense_variant,p.Ser403Asn,ENST00000370663,NM_001173516.1;MAP7D3,missense_variant,p.Ser386Asn,ENST00000370661,NM_001173517.1;MAP7D3,missense_variant,p.Ser380Asn,ENST00000370660,;MAP7D3,upstream_gene_variant,,ENST00000495432,;MAP7D3,upstream_gene_variant,,ENST00000477124,;MAP7D3,upstream_gene_variant,,ENST00000489788,;	T	ENST00000316077	Transcript	missense_variant	1483/4567	1262/2631	421/876	S/N	aGc/aAc		1		-1	MAP7D3	HGNC	HGNC:25742	protein_coding	YES	CCDS44004.1	ENSP00000318086	Q8IWC1		UPI00001C207C	NM_024597.3	tolerated(0.3)		8/19		hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF5																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	101	136231695	136231695	C	T	1	0	0	0	0	1	0	0	0	9193	797	28	3		3	MAP7D3	23	136231695	Missense_Mutation	SNP	C	C3N-02433_TP	32957580	136231695	19809200	56	31509											
USP1	0	.	GRCh38	chr1	62450308	62450308	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttattgacacctcttaaatTgtcactagaagaatggagca	14	13	7	7	0	2	3	1	1	1	2	2	4	2	4	1	1	1	1	1	1	6	6	novel		C3N-02529_TP	C3N-02529_NB	T	T																c.1685T>G	p.Leu562Trp	p.L562W	ENST00000339950	9/9	120	108	12	159	159	0	strelka-varscan-mutect	USP1,missense_variant,p.Leu562Trp,ENST00000339950,NM_003368.4;USP1,missense_variant,p.Leu562Trp,ENST00000371146,NM_001017415.1,NM_001017416.1;DOCK7,downstream_gene_variant,,ENST00000251157,;DOCK7,downstream_gene_variant,,ENST00000454575,NM_001271999.1;DOCK7,downstream_gene_variant,,ENST00000340370,NM_033407.3;DOCK7,downstream_gene_variant,,ENST00000637255,;DOCK7,downstream_gene_variant,,ENST00000634495,;DOCK7,downstream_gene_variant,,ENST00000635983,;DOCK7,downstream_gene_variant,,ENST00000635348,;	G	ENST00000339950	Transcript	missense_variant	2500/3996	1685/2358	562/785	L/W	tTg/tGg		1		1	USP1	HGNC	HGNC:12607	protein_coding	YES	CCDS621.1	ENSP00000343526	O94782		UPI00001379D4	NM_003368.4	deleterious(0)		9/9		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	102	62450308	62450308	T	G	1	0	0	0	0	1	0	0	0	17574	1821	63	5		5	USP1	1	62450308	Missense_Mutation	SNP	T	C3N-02529_TP		62450308	186506114	1	31510											
TYW3	0	.	GRCh38	chr1	74733304	74733304	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttgagcaaagcggacctCagccggaagggcagtgttga	10	8	15	8	2	1	2	1	2	0	0	1	4	1	4	2	3	3	4	2	3	2	2			C3N-02529_TP	C3N-02529_NB	C	C																c.60C>T	p.=	p.L20L	ENST00000370867	1/6	296	271	25	250	250	0	strelka-varscan-mutect	TYW3,synonymous_variant,p.=,ENST00000370867,NM_138467.2;TYW3,synonymous_variant,p.=,ENST00000457880,NM_001162916.1;CRYZ,5_prime_UTR_variant,,ENST00000417775,NM_001130042.1;TYW3,5_prime_UTR_variant,,ENST00000479111,;CRYZ,upstream_gene_variant,,ENST00000340866,NM_001889.3;CRYZ,upstream_gene_variant,,ENST00000370872,NM_001134759.1;CRYZ,upstream_gene_variant,,ENST00000370871,NM_001130043.1;CRYZ,upstream_gene_variant,,ENST00000370870,;TYW3,upstream_gene_variant,,ENST00000483990,;CRYZ,upstream_gene_variant,,ENST00000441120,;	T	ENST00000370867	Transcript	synonymous_variant	149/3430	60/780	20/259	L	ctC/ctT	COSM3790256	1		1	TYW3	HGNC	HGNC:24757	protein_coding	YES	CCDS666.1	ENSP00000359904	Q6IPR3		UPI000006EC9D	NM_138467.2			1/6		Superfamily_domains:0044041,Gene3D:1tljA00,Pfam_domain:PF02676,hmmpanther:PTHR23245											1						LOW	1	SNV	1		1	1										PASS		rs1293025026	.												T	2	4	102	74733304	74733304	C	T	1	0	0	0	0	0	0	0	1	17335	813	29	3		3	TYW3	1	74733304	Silent	SNP	C	C3N-02529_TP	12282996	74733304	174223118	2	31511											
C1orf226	0	.	GRCh38	chr1	162383520	162383520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctaaagatgactgagtgcaGaagggcctcctcccccagcc	10	6	11	14	0	0	4	0	2	0	2	2	4	2	4	5	1	2	2	5	1	3	1	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.785G>A	p.Arg262Lys	p.R262K	ENST00000426197	3/3	398	363	35	301	301	0	strelka-varscan-mutect	C1orf226,missense_variant,p.Arg219Lys,ENST00000458626,NM_001085375.1;C1orf226,missense_variant,p.Arg262Lys,ENST00000426197,NM_001135240.1;C1orf226,downstream_gene_variant,,ENST00000420220,;RP11-565P22.6,downstream_gene_variant,,ENST00000431696,;RP11-565P22.6,3_prime_UTR_variant,,ENST00000367932,;	A	ENST00000426197	Transcript	missense_variant	858/1049	785/948	262/315	R/K	aGa/aAa		1		1	C1orf226	HGNC	HGNC:34351	protein_coding	YES	CCDS44268.1	ENSP00000413150	A1L170		UPI00006C02B3	NM_001135240.1	tolerated(0.08)		3/3		Pfam_domain:PF15429																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	102	162383520	162383520	G	A	1	0	0	0	0	1	0	0	0	1984	942	33	3		3	C1orf226	1	162383520	Missense_Mutation	SNP	G	C3N-02529_TP	87650216	162383520	86572902	3	31512											
HMCN1	0	.	GRCh38	chr1	186015982	186015982	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatgattgaaggcaactTggccacgcctttgaataagc	12	10	9	10	1	0	3	0	3	0	0	1	3	1	3	3	2	2	1	3	2	5	4	novel		C3N-02529_TP	C3N-02529_NB	T	T																c.4934T>A	p.Leu1645Ter	p.L1645*	ENST00000271588	32/107	216	201	15	213	213	0	strelka-varscan-mutect	HMCN1,stop_gained,p.Leu1645Ter,ENST00000271588,NM_031935.2;	A	ENST00000271588	Transcript	stop_gained	5163/18208	4934/16908	1645/5635	L/*	tTg/tAg		1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2			32/107		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	102	186015982	186015982	T	A	1	0	0	0	0	0	1	0	0	7111	1821	63	4		4	HMCN1	1	186015982	Nonsense_Mutation	SNP	T	C3N-02529_TP	23632462	186015982	62940440	4	31513											
PKP1	0	.	GRCh38	chr1	201323094	201323094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccattcagatgccatcCgcacctacctgaacctcatg	10	10	6	15	1	2	2	2	1	0	1	3	2	3	2	6	0	4	2	6	0	3	3	rs747503125		C3N-02529_TP	C3N-02529_NB	C	C																c.1648C>A	p.Arg550Ser	p.R550S	ENST00000263946	10/15	376	310	66	262	261	1	strelka-varscan-mutect	PKP1,missense_variant,p.Arg550Ser,ENST00000263946,NM_000299.3;PKP1,missense_variant,p.Arg529Ser,ENST00000367324,NM_001005337.2;PKP1,missense_variant,p.Arg550Ser,ENST00000352845,;PKP1,downstream_gene_variant,,ENST00000475988,;	A	ENST00000263946	Transcript	missense_variant	1899/5447	1648/2244	550/747	R/S	Cgc/Agc	rs747503125	1		1	PKP1	HGNC	HGNC:9023	protein_coding	YES	CCDS30966.1	ENSP00000263946	Q13835		UPI0000131B86	NM_000299.3	deleterious(0.01)		10/15		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF3,SMART_domains:SM00185,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		rs747503125	.												A	3	1	102	201323094	201323094	C	A	1	0	0	0	0	1	0	0	0	12080	652	23	1		1	PKP1	1	201323094	Missense_Mutation	SNP	C	C3N-02529_TP	15307112	201323094	47633328	5	31514											
PM20D1	0	.	GRCh38	chr1	205830290	205830290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccactcaccgtttgaagtCttcaggctgtatgtagatgg	8	14	10	9	1	3	2	2	1	1	1	4	2	4	2	2	2	0	4	2	2	3	5			C3N-02529_TP	C3N-02529_NB	C	C																c.1375G>C	p.Asp459His	p.D459H	ENST00000367136	12/13	325	294	31	227	227	0	strelka-varscan-mutect	PM20D1,missense_variant,p.Asp459His,ENST00000367136,NM_152491.4;PM20D1,non_coding_transcript_exon_variant,,ENST00000460624,;PM20D1,non_coding_transcript_exon_variant,,ENST00000461807,;PM20D1,upstream_gene_variant,,ENST00000469861,;	G	ENST00000367136	Transcript	missense_variant	1420/2152	1375/1509	459/502	D/H	Gac/Cac	COSM902838,COSM902839	1		-1	PM20D1	HGNC	HGNC:26518	protein_coding	YES	CCDS1460.1	ENSP00000356104	Q6GTS8		UPI00003665FD	NM_152491.4	deleterious(0)		12/13		hmmpanther:PTHR11014:SF16,hmmpanther:PTHR11014,Pfam_domain:PF01546,Gene3D:3.40.630.10,Superfamily_domains:SSF53187											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1408330500	.												G	3	3	102	205830290	205830290	C	G	1	0	0	0	0	1	0	0	0	12234	913	32	4		4	PM20D1	1	205830290	Missense_Mutation	SNP	C	C3N-02529_TP	4507196	205830290	43126132	6	31515											
POMC	0	.	GRCh38	chr2	25161086	25161086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccccgctgtgccctcactCgcccttcttgtaggcgttct	2	12	10	17	3	3	0	1	0	2	0	4	0	3	0	4	2	1	3	4	2	1	4			C3N-02529_TP	C3N-02529_NB	C	C																c.799G>A	p.Glu267Lys	p.E267K	ENST00000405623	3/3	231	203	28	177	177	0	strelka-varscan-mutect	POMC,missense_variant,p.Glu267Lys,ENST00000405623,NM_001319205.1;POMC,missense_variant,p.Glu267Lys,ENST00000380794,NM_001035256.1;POMC,missense_variant,p.Glu267Lys,ENST00000264708,;POMC,missense_variant,p.Glu267Lys,ENST00000395826,NM_000939.2;EFR3B,downstream_gene_variant,,ENST00000403714,NM_001319099.1,NM_014971.1;POMC,downstream_gene_variant,,ENST00000449220,;	T	ENST00000405623	Transcript	missense_variant	1255/1426	799/804	267/267	E/K	Gag/Aag	COSM5035397,COSM5553172	1		-1	POMC	HGNC	HGNC:9201	protein_coding	YES	CCDS1717.1	ENSP00000384092	P01189		UPI0000127E5B	NM_001319205.1	deleterious(0.01)		3/3		hmmpanther:PTHR11416											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs948316373	.												T	3	4	102	25161086	25161086	C	T	1	0	0	0	0	1	0	0	0	12354	893	31	1		1	POMC	2	25161086	Missense_Mutation	SNP	C	C3N-02529_TP		25161086	217032443	7	31516											
BIRC6	0	.	GRCh38	chr2	32416044	32416044	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtaaaaatactagatctttCaaactttgaaattttggcca	15	15	5	6	0	2	2	1	1	1	1	2	2	2	2	1	1	2	1	1	1	7	7	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.2753C>G	p.Ser918Ter	p.S918*	ENST00000421745	10/74	183	162	21	190	190	0	strelka-varscan-mutect	BIRC6,stop_gained,p.Ser918Ter,ENST00000421745,NM_016252.3;	G	ENST00000421745	Transcript	stop_gained	2887/15703	2753/14574	918/4857	S/*	tCa/tGa		1		1	BIRC6	HGNC	HGNC:13516	protein_coding	YES	CCDS33175.2	ENSP00000393596	Q9NR09		UPI000159689D	NM_016252.3			10/74		Gene3D:2.130.10.10																	HIGH	1	SNV	1			1										PASS		rs1021660118	.												G	4	3	102	32416044	32416044	C	G	1	0	0	0	0	0	1	0	0	1589	838	29	4		4	BIRC6	2	32416044	Nonsense_Mutation	SNP	C	C3N-02529_TP	7254958	32416044	209777485	8	31517											
ASTL	0	.	GRCh38	chr2	96133455	96133455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatgatggaaatgaagtctCtctggtcctgataggtgaca	11	11	13	6	0	2	4	0	4	2	0	4	6	3	6	1	4	0	0	1	4	3	1			C3N-02529_TP	C3N-02529_NB	C	C																c.425G>C	p.Arg142Thr	p.R142T	ENST00000342380	5/9	286	262	24	211	210	1	strelka-varscan-mutect	ASTL,missense_variant,p.Arg142Thr,ENST00000342380,NM_001002036.3;ASTL,downstream_gene_variant,,ENST00000470582,;	G	ENST00000342380	Transcript	missense_variant	425/1296	425/1296	142/431	R/T	aGa/aCa	COSM198879	1		-1	ASTL	HGNC	HGNC:31704	protein_coding	YES	CCDS33249.1	ENSP00000343674	Q6HA08		UPI0000161978	NM_001002036.3	tolerated(0.09)		5/9		Gene3D:3.40.390.10,Pfam_domain:PF01400,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF649,SMART_domains:SM00235,Superfamily_domains:SSF55486											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	102	96133455	96133455	C	G	1	0	0	0	0	1	0	0	0	1210	913	32	4		4	ASTL	2	96133455	Missense_Mutation	SNP	C	C3N-02529_TP	63717411	96133455	146060074	9	31518											
ZAP70	0	.	GRCh38	chr2	97733160	97733160	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctgaaggcggacgggctCatctactgcctgaaggaggc	10	6	15	10	2	2	2	1	2	1	0	2	4	2	4	1	5	3	2	1	5	4	1	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.738C>T	p.=	p.L246L	ENST00000264972	6/14	456	415	41	330	330	0	strelka-varscan-mutect	ZAP70,synonymous_variant,p.=,ENST00000264972,NM_001079.3;ZAP70,upstream_gene_variant,,ENST00000451498,NM_207519.1;ZAP70,non_coding_transcript_exon_variant,,ENST00000463643,;ZAP70,non_coding_transcript_exon_variant,,ENST00000487283,;ZAP70,non_coding_transcript_exon_variant,,ENST00000483781,;ZAP70,non_coding_transcript_exon_variant,,ENST00000498836,;ZAP70,upstream_gene_variant,,ENST00000495754,;ZAP70,upstream_gene_variant,,ENST00000489250,;	T	ENST00000264972	Transcript	synonymous_variant	953/2437	738/1860	246/619	L	ctC/ctT		1		1	ZAP70	HGNC	HGNC:12858	protein_coding	YES	CCDS33254.1	ENSP00000264972	P43403		UPI000013C370	NM_001079.3			6/14		Gene3D:3.30.505.10,PIRSF_domain:PIRSF000604,PROSITE_profiles:PS50001,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF262,Superfamily_domains:SSF55550																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	102	97733160	97733160	C	T	1	0	0	0	0	0	0	0	1	18075	813	29	3		3	ZAP70	2	97733160	Silent	SNP	C	C3N-02529_TP	1599705	97733160	144460369	10	31519											
KCNH7	0	.	GRCh38	chr2	162423446	162423446	+	Silent	SNP	G	G	T																															gcgaatgaactcttttactcGcagcatctgcatgtggtacc																								rs374177414		C3N-02529_TP	C3N-02529_NB	G	G																c.2044C>A	p.=	p.R682R	ENST00000332142	9/16	253	237	16	252	251	1	strelka-varscan-mutect	KCNH7,synonymous_variant,p.=,ENST00000332142,NM_033272.3;KCNH7,synonymous_variant,p.=,ENST00000618399,;KCNH7,synonymous_variant,p.=,ENST00000328032,NM_173162.2;KCNH7,synonymous_variant,p.=,ENST00000621889,;	T	ENST00000332142	Transcript	synonymous_variant	2144/4113	2044/3591	682/1196	R	Cga/Aga	rs374177414,COSM312183,COSM4086035,COSM4086036,COSM5657801	1		-1	KCNH7	HGNC	HGNC:18863	protein_coding	YES	CCDS2219.1	ENSP00000331727	Q9NS40		UPI0000167D11	NM_033272.3			9/16		hmmpanther:PTHR10217:SF466,hmmpanther:PTHR10217,Gene3D:3bpzA01,Superfamily_domains:SSF51206											0,1,1,1,1						LOW	1	SNV	1		0,1,1,1,1	1										PASS		rs374177414	.												T	2	4	102	162423446	162423446	G	T	1	0	0	0	0	0	0	0	1	7953	1095	38	1		1	KCNH7	2	162423446	Silent	SNP	G	C3N-02529_TP	64690286	162423446	79770083	11	31520	642	2									
KCNH7	0	.	GRCh38	chr2	162423448	162423448	+	Missense_Mutation	SNP	A	A	G																															gaatgaactcttttactcgcAgcatctgcatgtggtacctg																								novel		C3N-02529_TP	C3N-02529_NB	A	A																c.2042T>C	p.Leu681Pro	p.L681P	ENST00000332142	9/16	250	235	15	247	247	0	strelka-varscan-mutect	KCNH7,missense_variant,p.Leu681Pro,ENST00000332142,NM_033272.3;KCNH7,missense_variant,p.Leu581Pro,ENST00000618399,;KCNH7,missense_variant,p.Leu674Pro,ENST00000328032,NM_173162.2;KCNH7,missense_variant,p.Leu572Pro,ENST00000621889,;	G	ENST00000332142	Transcript	missense_variant	2142/4113	2042/3591	681/1196	L/P	cTg/cCg		1		-1	KCNH7	HGNC	HGNC:18863	protein_coding	YES	CCDS2219.1	ENSP00000331727	Q9NS40		UPI0000167D11	NM_033272.3	deleterious(0)		9/16		hmmpanther:PTHR10217:SF466,hmmpanther:PTHR10217,Gene3D:3bpzA01,Superfamily_domains:SSF51206																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	102	162423448	162423448	A	G	1	0	0	0	0	1	0	0	0	7953	188	7	5		5	KCNH7	2	162423448	Missense_Mutation	SNP	A	C3N-02529_TP	2	162423448	79770081	12	31521	642	2									
TTC30B	0	.	GRCh38	chr2	177552313	177552313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggccatcggtctcattctCgcccccactttcctctcccc	3	12	5	21	2	3	0	1	0	3	0	8	0	4	0	6	2	0	0	6	2	0	2	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.451G>A	p.Glu151Lys	p.E151K	ENST00000408939	1/1	306	277	29	338	338	0	strelka-varscan-mutect	TTC30B,missense_variant,p.Glu151Lys,ENST00000408939,NM_152517.2;AGPS,intron_variant,,ENST00000637633,;	T	ENST00000408939	Transcript	missense_variant	702/4017	451/1998	151/665	E/K	Gag/Aag		1		-1	TTC30B	HGNC	HGNC:26425	protein_coding	YES	CCDS42784.1	ENSP00000386181	Q8N4P2		UPI000013DE25	NM_152517.2	tolerated(0.42)		1/1		Low_complexity_(Seg):seg,hmmpanther:PTHR20931:SF2,hmmpanther:PTHR20931,Superfamily_domains:SSF48452																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	102	177552313	177552313	C	T	1	0	0	0	0	1	0	0	0	17208	893	31	1		1	TTC30B	2	177552313	Missense_Mutation	SNP	C	C3N-02529_TP	15128865	177552313	64641216	13	31522											
DNAH7	0	.	GRCh38	chr2	195888427	195888427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatgtaaatcatgccacatCtggaaacctggaaagccata	15	8	7	11	0	2	0	1	0	1	0	2	2	2	2	4	2	3	1	4	2	5	2			C3N-02529_TP	C3N-02529_NB	C	C																c.5237G>C	p.Arg1746Thr	p.R1746T	ENST00000312428	33/65	143	134	9	131	131	0	strelka-varscan-mutect	DNAH7,missense_variant,p.Arg1746Thr,ENST00000312428,NM_018897.2;DNAH7,downstream_gene_variant,,ENST00000475293,;	G	ENST00000312428	Transcript	missense_variant	5338/12394	5237/12075	1746/4024	R/T	aGa/aCa	COSM4551239	1		-1	DNAH7	HGNC	HGNC:18661	protein_coding	YES	CCDS42794.1	ENSP00000311273	Q8WXX0		UPI0000141B95	NM_018897.2	deleterious(0)		33/65		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Superfamily_domains:SSF52540											1						MODERATE	1	SNV	1		1	1										PASS		.	.												G	3	3	102	195888427	195888427	C	G	1	0	0	0	0	1	0	0	0	4421	913	32	4		4	DNAH7	2	195888427	Missense_Mutation	SNP	C	C3N-02529_TP	18336114	195888427	46305102	14	31523											
LHFPL4	0	.	GRCh38	chr3	9552669	9552669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agagcttggaggcctcctgcGagggcagcatggtgcccgga	7	6	17	11	2	0	1	0	0	0	1	1	4	1	3	3	5	4	3	3	5	0	1	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.11C>G	p.Ser4Trp	p.S4W	ENST00000287585	2/4	98	92	6	109	109	0	strelka-varscan-mutect	LHFPL4,missense_variant,p.Ser4Trp,ENST00000287585,NM_198560.2;LHFPL4,non_coding_transcript_exon_variant,,ENST00000498277,;LHFPL4,upstream_gene_variant,,ENST00000495730,;	C	ENST00000287585	Transcript	missense_variant	297/4880	11/744	4/247	S/W	tCg/tGg		1		-1	LHFPL4	HGNC	HGNC:29568	protein_coding	YES	CCDS33691.1	ENSP00000287585	Q7Z7J7		UPI000019B16A	NM_198560.2	deleterious(0)		2/4		hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF14																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	102	9552669	9552669	G	C	1	0	0	0	0	1	0	0	0	8676	1059	37	4		4	LHFPL4	3	9552669	Missense_Mutation	SNP	G	C3N-02529_TP		9552669	188742890	15	31524											
CTNNB1	0	.	GRCh38	chr3	41224622	41224622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggactctggaatccattCtggtgccactaccacagctc	8	10	8	15	0	2	0	0	0	2	0	4	2	3	2	4	3	3	1	4	3	2	2	rs121913403		C3N-02529_TP	C3N-02529_NB	C	C																c.110C>T	p.Ser37Phe	p.S37F	ENST00000349496	3/15	513	483	30	454	454	0	strelka-varscan-mutect	CTNNB1,missense_variant,p.Ser37Phe,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser37Phe,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser37Phe,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser30Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000441708,;CTNNB1,missense_variant,p.Ser30Phe,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;	T	ENST00000349496	Transcript	missense_variant	390/3737	110/2346	37/781	S/F	tCt/tTt	rs121913403,COSM5662,COSM5666,COSM5679	1		1	CTNNB1	HGNC	HGNC:2514	protein_coding	YES	CCDS2694.1	ENSP00000344456	P35222	A0A024R2Q3	UPI000012862F	NM_001904.3	deleterious(0)		3/15		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53										likely_pathogenic,pathogenic	0,1,1,1						MODERATE	1	SNV	1		1,1,1,1	1										PASS		rs121913403	.												T	3	4	102	41224622	41224622	C	T	1	0	0	0	0	1	0	0	0	3825	913	32	3		3	CTNNB1	3	41224622	Missense_Mutation	SNP	C	C3N-02529_TP	31671953	41224622	157070937	16	31525											
EPHA6	0	.	GRCh38	chr3	97448574	97448574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctgtcccccaggaacatGagcagctgacctactcttcc	8	11	7	15	0	2	2	0	2	2	0	4	3	4	3	4	1	4	2	4	1	2	3			C3N-02529_TP	C3N-02529_NB	G	G																c.1738G>A	p.Glu580Lys	p.E580K	ENST00000389672	7/18	185	170	15	177	176	1	strelka-varscan-mutect	EPHA6,missense_variant,p.Glu580Lys,ENST00000389672,NM_001080448.2;EPHA6,5_prime_UTR_variant,,ENST00000514100,NM_001278300.1;EPHA6,5_prime_UTR_variant,,ENST00000502694,NM_173655.3;EPHA6,5_prime_UTR_variant,,ENST00000477384,;EPHA6,5_prime_UTR_variant,,ENST00000503760,;EPHA6,5_prime_UTR_variant,,ENST00000508345,;	A	ENST00000389672	Transcript	missense_variant	1776/3971	1738/3393	580/1130	E/K	Gag/Aag	COSM1538558,COSM1538559,COSM1538560	1		1	EPHA6	HGNC	HGNC:19296	protein_coding	YES	CCDS46876.1	ENSP00000374323		A0A0B4J1T8	UPI000004BB12	NM_001080448.2	tolerated(0.27)		7/18		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF364,SMART_domains:SM00060,Superfamily_domains:SSF49265											1,1,1						MODERATE	1	SNV	2		1,1,1	1										PASS		.	.												A	3	1	102	97448574	97448574	G	A	1	0	0	0	0	1	0	0	0	5018	1291	45	3		3	EPHA6	3	97448574	Missense_Mutation	SNP	G	C3N-02529_TP	56223952	97448574	100846985	17	31526											
UPK1B	0	.	GRCh38	chr3	119187814	119187814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggagtgcatcttctttGtatctgaccaacacagcctc	8	12	8	13	1	3	1	0	1	3	0	4	2	3	2	2	1	4	2	2	1	2	3	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.109G>A	p.Val37Ile	p.V37I	ENST00000264234	3/8	484	438	46	420	420	0	strelka-varscan-mutect	UPK1B,missense_variant,p.Val37Ile,ENST00000264234,NM_006952.3;UPK1B,missense_variant,p.Val37Ile,ENST00000460625,;UPK1B,missense_variant,p.Val37Ile,ENST00000479520,;UPK1B,missense_variant,p.Val37Ile,ENST00000494855,;UPK1B,5_prime_UTR_variant,,ENST00000497685,;RP11-484M3.5,downstream_gene_variant,,ENST00000490594,;	A	ENST00000264234	Transcript	missense_variant	258/2118	109/783	37/260	V/I	Gta/Ata		1		1	UPK1B	HGNC	HGNC:12578	protein_coding	YES	CCDS2985.1	ENSP00000264234	O75841		UPI000013D4E8	NM_006952.3	tolerated(0.19)		3/8		hmmpanther:PTHR19282:SF24,hmmpanther:PTHR19282,Pfam_domain:PF00335																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	102	119187814	119187814	G	A	1	0	0	0	0	1	0	0	0	17534	1377	48	3		3	UPK1B	3	119187814	Missense_Mutation	SNP	G	C3N-02529_TP	21739240	119187814	79107745	18	31527											
ZNF148	0	.	GRCh38	chr3	125277760	125277760	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtctctgaagcaggtaCttctgtatgaaacgcatgtc	10	13	9	9	1	3	2	1	2	2	0	5	2	3	2	0	1	3	4	0	1	4	3	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.633G>A	p.=	p.K211K	ENST00000360647	7/9	216	178	38	238	238	0	strelka-varscan-mutect	ZNF148,synonymous_variant,p.=,ENST00000360647,NM_021964.2;ZNF148,synonymous_variant,p.=,ENST00000485866,;ZNF148,synonymous_variant,p.=,ENST00000484491,;ZNF148,synonymous_variant,p.=,ENST00000492394,;ZNF148,synonymous_variant,p.=,ENST00000468369,;ZNF148,non_coding_transcript_exon_variant,,ENST00000497929,;	T	ENST00000360647	Transcript	synonymous_variant	1119/9651	633/2385	211/794	K	aaG/aaA		1		-1	ZNF148	HGNC	HGNC:12933	protein_coding	YES	CCDS3031.1	ENSP00000353863	Q9UQR1		UPI000013C2FF	NM_021964.2			7/9		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF65,SMART_domains:SM00355,Superfamily_domains:SSF57667																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	102	125277760	125277760	C	T	1	0	0	0	0	0	0	0	1	18315	564	20	3		3	ZNF148	3	125277760	Silent	SNP	C	C3N-02529_TP	6089946	125277760	73017799	19	31528											
ZBTB38	0	.	GRCh38	chr3	141445963	141445963	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catacaaaccggtgtggaaaAtgttgtcctttgagtggcaa	12	11	11	7	1	0	1	0	1	0	0	1	2	1	2	2	3	2	2	2	3	5	3	novel		C3N-02529_TP	C3N-02529_NB	A	A																c.3575A>T	p.Asn1192Ile	p.N1192I	ENST00000514251	4/4	98	85	13	75	75	0	strelka-varscan-mutect	ZBTB38,missense_variant,p.Asn1192Ile,ENST00000514251,;ZBTB38,missense_variant,p.Asn1192Ile,ENST00000637056,NM_001080412.2;ZBTB38,missense_variant,p.Asn1192Ile,ENST00000441582,;ZBTB38,missense_variant,p.Asn1192Ile,ENST00000321464,;ZBTB38,downstream_gene_variant,,ENST00000636289,;ZBTB38,downstream_gene_variant,,ENST00000509883,;ZBTB38,downstream_gene_variant,,ENST00000509842,;ZBTB38,downstream_gene_variant,,ENST00000510726,;ZBTB38,downstream_gene_variant,,ENST00000509813,;ZBTB38,downstream_gene_variant,,ENST00000513570,;ZBTB38,downstream_gene_variant,,ENST00000510338,;ZBTB38,downstream_gene_variant,,ENST00000507722,;ZBTB38,downstream_gene_variant,,ENST00000513258,;ZBTB38,downstream_gene_variant,,ENST00000504673,;ZBTB38,downstream_gene_variant,,ENST00000503809,;ZBTB38,upstream_gene_variant,,ENST00000512769,;	T	ENST00000514251	Transcript	missense_variant	3854/7683	3575/3588	1192/1195	N/I	aAt/aTt		1		1	ZBTB38	HGNC	HGNC:26636	protein_coding	YES	CCDS43157.1	ENSP00000426387	Q8NAP3		UPI000020A364		deleterious_low_confidence(0.01)		4/4																			MODERATE	1	SNV	2			1										PASS		rs1377321099	.												T	3	4	102	141445963	141445963	A	T	1	0	0	0	0	1	0	0	0	18108	101	4	4		4	ZBTB38	3	141445963	Missense_Mutation	SNP	A	C3N-02529_TP	16168203	141445963	56849596	20	31529											
TSC22D2	0	.	GRCh38	chr3	150458454	150458454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaaataaaagaattagttGaaagaaactctttacttgaa	21	11	5	4	0	1	4	0	2	1	2	1	4	1	4	0	0	3	1	0	0	10	6			C3N-02529_TP	C3N-02529_NB	G	G																c.2161G>A	p.Glu721Lys	p.E721K	ENST00000361875	4/4	247	228	19	216	216	0	strelka-varscan-mutect	TSC22D2,missense_variant,p.Glu721Lys,ENST00000361875,NM_014779.3;TSC22D2,missense_variant,p.Glu145Lys,ENST00000466814,;TSC22D2,3_prime_UTR_variant,,ENST00000480589,;TSC22D2,3_prime_UTR_variant,,ENST00000485421,;TSC22D2,non_coding_transcript_exon_variant,,ENST00000460316,;	A	ENST00000361875	Transcript	missense_variant	3177/11154	2161/2343	721/780	E/K	Gaa/Aaa	COSM5328712	1		1	TSC22D2	HGNC	HGNC:29095	protein_coding	YES	CCDS3149.1	ENSP00000354543	O75157		UPI00000722E0	NM_014779.3	deleterious(0)		4/4		Superfamily_domains:0053404,Gene3D:1.20.5.490,Coiled-coils_(Ncoils):Coil,PD007152,Pfam_domain:PF01166,hmmpanther:PTHR12348,hmmpanther:PTHR12348:SF17											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	102	150458454	150458454	G	A	1	0	0	0	0	1	0	0	0	17114	1291	45	3		3	TSC22D2	3	150458454	Missense_Mutation	SNP	G	C3N-02529_TP	9012491	150458454	47837105	21	31530											
MUC4	0	.	GRCh38	chr3	195781919	195781919	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggatactgaggaaaggcTggtgacaggaagaggggtgg	11	7	20	3	0	0	3	0	2	0	1	0	6	0	6	0	8	1	1	0	8	3	1	novel		C3N-02529_TP	C3N-02529_NB	T	T																c.9661A>G	p.Ser3221Gly	p.S3221G	ENST00000463781	2/25	52	45	7	69	69	0	varscan-mutect	MUC4,missense_variant,p.Ser3221Gly,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ser3221Gly,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ser3221Gly,ENST00000478156,;MUC4,missense_variant,p.Ser3221Gly,ENST00000466475,;MUC4,missense_variant,p.Ser3221Gly,ENST00000477756,;MUC4,missense_variant,p.Ser3221Gly,ENST00000477086,;MUC4,missense_variant,p.Ser3221Gly,ENST00000480843,;MUC4,missense_variant,p.Ser3221Gly,ENST00000462323,;MUC4,missense_variant,p.Ser3221Gly,ENST00000470451,;MUC4,missense_variant,p.Ser3221Gly,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	C	ENST00000463781	Transcript	missense_variant	10121/17110	9661/16239	3221/5412	S/G	Agc/Ggc		1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6	tolerated_low_confidence(0.29)		2/25																			MODERATE	1	SNV	5			1										PASS		rs1482969929	.												C	3	2	102	195781919	195781919	T	C	1	0	0	0	0	1	0	0	0	9977	1580	55	5		5	MUC4	3	195781919	Missense_Mutation	SNP	T	C3N-02529_TP	45323465	195781919	2513640	22	31531											
TNIP2	0	.	GRCh38	chr4	2747698	2747698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattcctttgtgcatgctgtCgttcatccagacacttggcc	6	14	8	13	1	1	1	1	0	0	1	4	1	3	1	3	1	2	3	3	1	0	4	rs539733626		C3N-02529_TP	C3N-02529_NB	C	C																c.524G>A	p.Arg175Gln	p.R175Q	ENST00000315423	2/6	174	158	16	173	173	0	strelka-varscan-mutect	TNIP2,missense_variant,p.Arg68Gln,ENST00000510267,NM_001161527.1;TNIP2,missense_variant,p.Arg175Gln,ENST00000315423,NM_024309.3;TNIP2,missense_variant,p.Arg175Gln,ENST00000503235,NM_001292016.1;TNIP2,upstream_gene_variant,,ENST00000505186,;TNIP2,non_coding_transcript_exon_variant,,ENST00000511352,;TNIP2,non_coding_transcript_exon_variant,,ENST00000507686,;TNIP2,upstream_gene_variant,,ENST00000502256,;	T	ENST00000315423	Transcript	missense_variant	611/1974	524/1290	175/429	R/Q	cGa/cAa	rs539733626,COSM277750	1		-1	TNIP2	HGNC	HGNC:19118	protein_coding	YES	CCDS3362.1	ENSP00000321203	Q8NFZ5		UPI00000702D2	NM_024309.3	tolerated(0.21)		2/6		hmmpanther:PTHR31882											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs539733626	.												T	3	4	102	2747698	2747698	C	T	1	0	0	0	0	1	0	0	0	16788	884	31	1		1	TNIP2	4	2747698	Missense_Mutation	SNP	C	C3N-02529_TP		2747698	187466857	23	31532											
KIAA1211	0	.	GRCh38	chr4	56315387	56315387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcttggaggagaagaagCacgcggaagccccagctggg	10	4	18	9	2	0	2	0	0	0	2	0	5	0	4	2	5	3	3	2	5	3	1	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.1885C>T	p.His629Tyr	p.H629Y	ENST00000504228	6/9	199	164	35	164	164	0	strelka-varscan-mutect	KIAA1211,missense_variant,p.His629Tyr,ENST00000504228,;KIAA1211,missense_variant,p.His622Tyr,ENST00000541073,;KIAA1211,missense_variant,p.His629Tyr,ENST00000264229,NM_020722.1;KIAA1211,downstream_gene_variant,,ENST00000636006,;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;	T	ENST00000504228	Transcript	missense_variant	1990/4628	1885/3702	629/1233	H/Y	Cac/Tac		1		1	KIAA1211	HGNC	HGNC:29219	protein_coding	YES	CCDS43230.1	ENSP00000423366	Q6ZU35		UPI0000237309		tolerated(0.54)		6/9																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	102	56315387	56315387	C	T	1	0	0	0	0	1	0	0	0	8107	710	25	3		3	KIAA1211	4	56315387	Missense_Mutation	SNP	C	C3N-02529_TP	53567689	56315387	133899168	24	31533											
CCDC158	0	.	GRCh38	chr4	76382642	76382642	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttgactctggatactattGgcttggcttcgagcactgct	7	15	10	9	1	1	1	0	1	1	0	2	3	1	2	0	3	3	4	0	3	2	6	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.882C>A	p.=	p.A294A	ENST00000388914	7/24	234	187	47	201	201	0	strelka-varscan-mutect	CCDC158,synonymous_variant,p.=,ENST00000388914,NM_001042784.1;CCDC158,synonymous_variant,p.=,ENST00000434846,;CCDC158,downstream_gene_variant,,ENST00000509851,;	T	ENST00000388914	Transcript	synonymous_variant	1035/3663	882/3342	294/1113	A	gcC/gcA		1		-1	CCDC158	HGNC	HGNC:26374	protein_coding	YES	CCDS43242.1	ENSP00000373566	Q5M9N0		UPI00004DF23B	NM_001042784.1			7/24		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15921,hmmpanther:PTHR13140																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	102	76382642	76382642	G	T	1	0	0	0	0	0	0	0	1	2478	1335	47	2		2	CCDC158	4	76382642	Silent	SNP	G	C3N-02529_TP	20067255	76382642	113831913	25	31534											
LIN54	0	.	GRCh38	chr4	82946273	82946273	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaccttgctgaagaggctGagtgtttgtactgggattct	8	14	12	7	0	1	3	0	2	1	1	1	4	1	4	1	2	3	4	1	2	3	5	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.1153C>T	p.Gln385Ter	p.Q385*	ENST00000340417	5/13	252	227	25	226	226	0	strelka-varscan-mutect	LIN54,stop_gained,p.Gln385Ter,ENST00000340417,NM_194282.3;LIN54,stop_gained,p.Gln164Ter,ENST00000442461,NM_001115008.2;LIN54,stop_gained,p.Gln164Ter,ENST00000446851,NM_001288997.1;LIN54,stop_gained,p.Gln296Ter,ENST00000506560,NM_001288996.1;LIN54,stop_gained,p.Gln385Ter,ENST00000505397,;LIN54,stop_gained,p.Gln164Ter,ENST00000510557,NM_001115007.2;Y_RNA,upstream_gene_variant,,ENST00000362660,;LIN54,3_prime_UTR_variant,,ENST00000510877,;LIN54,intron_variant,,ENST00000508171,;	A	ENST00000340417	Transcript	stop_gained	1531/6127	1153/2250	385/749	Q/*	Cag/Tag		1		-1	LIN54	HGNC	HGNC:25397	protein_coding	YES	CCDS3599.1	ENSP00000341947	Q6MZP7	A0A024RDD8	UPI00001D75DE	NM_194282.3			5/13		hmmpanther:PTHR12446,hmmpanther:PTHR12446:SF14																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	102	82946273	82946273	G	A	1	0	0	0	0	0	1	0	0	8717	1299	45	3		3	LIN54	4	82946273	Nonsense_Mutation	SNP	G	C3N-02529_TP	6563631	82946273	107268282	26	31535											
SLC12A7	0	.	GRCh38	chr5	1083787	1083787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccgggatgccctggatttCggtgacgttgttctggatga	5	12	15	9	3	1	2	0	2	1	0	2	5	1	5	2	4	1	2	2	4	0	3	rs199733676		C3N-02529_TP	C3N-02529_NB	C	C																c.1087G>A	p.Glu363Lys	p.E363K	ENST00000264930	8/24	172	151	21	129	129	0	strelka-varscan-mutect	SLC12A7,missense_variant,p.Glu363Lys,ENST00000264930,NM_006598.2;SLC12A7,missense_variant,p.Glu264Lys,ENST00000634447,;SLC12A7,upstream_gene_variant,,ENST00000510943,;	T	ENST00000264930	Transcript	missense_variant	1131/5280	1087/3252	363/1083	E/K	Gaa/Aaa	rs199733676,COSM1059400	1		-1	SLC12A7	HGNC	HGNC:10915	protein_coding	YES	CCDS34129.1	ENSP00000264930	Q9Y666		UPI0000141815	NM_006598.2	tolerated(0.19)		8/24		TIGRFAM_domain:TIGR00930											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs199733676	.												T	3	4	102	1083787	1083787	C	T	1	0	0	0	0	1	0	0	0	14653	893	31	1		1	SLC12A7	5	1083787	Missense_Mutation	SNP	C	C3N-02529_TP		1083787	180454472	27	31536											
DNAJC21	0	.	GRCh38	chr5	34938990	34938990	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgaaatggaagaacatgaActcaaagatgaggaggatgg	19	6	13	3	0	1	5	1	3	0	2	1	8	1	8	0	4	2	0	0	4	6	0	novel		C3N-02529_TP	C3N-02529_NB	A	A																c.876A>C	p.Glu292Asp	p.E292D	ENST00000382021	6/13	232	174	58	145	144	1	strelka-varscan-mutect	DNAJC21,missense_variant,p.Glu292Asp,ENST00000382021,NM_194283.3;DNAJC21,missense_variant,p.Glu292Asp,ENST00000342382,NM_001012339.2;DNAJC21,non_coding_transcript_exon_variant,,ENST00000514237,;	C	ENST00000382021	Transcript	missense_variant	1103/6208	876/1731	292/576	E/D	gaA/gaC		1		1	DNAJC21	HGNC	HGNC:27030	protein_coding	YES	CCDS3907.2	ENSP00000371451	Q5F1R6		UPI000053E489	NM_194283.3	tolerated(0.15)		6/13		Low_complexity_(Seg):seg																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	102	34938990	34938990	A	C	1	0	0	0	0	1	0	0	0	4454	40	2	5		5	DNAJC21	5	34938990	Missense_Mutation	SNP	A	C3N-02529_TP	33855203	34938990	146599269	28	31537											
PCDHB4	0	.	GRCh38	chr5	141122093	141122093	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgcctcgagcctattcgttAttctgtgttggaggaaacag	8	13	11	9	3	1	0	0	0	1	0	4	3	1	2	2	2	2	2	2	2	3	5	rs782318038		C3N-02529_TP	C3N-02529_NB	A	A																c.95A>T	p.Tyr32Phe	p.Y32F	ENST00000194152	1/1	180	149	31	161	161	0	strelka-varscan-mutect	PCDHB4,missense_variant,p.Tyr32Phe,ENST00000194152,NM_018938.3;AC005754.8,downstream_gene_variant,,ENST00000606030,;AC005754.7,intron_variant,,ENST00000625128,;AC005754.7,intron_variant,,ENST00000625066,;AC005754.7,intron_variant,,ENST00000624802,;PCDHB4,intron_variant,,ENST00000623478,;	T	ENST00000194152	Transcript	missense_variant	295/3825	95/2388	32/795	Y/F	tAt/tTt	rs782318038,COSM1434186	1		1	PCDHB4	HGNC	HGNC:8689	protein_coding	YES	CCDS4246.1	ENSP00000194152	Q9Y5E5		UPI00001273DF	NM_018938.3	tolerated_low_confidence(0.16)		1/1		Gene3D:2.60.40.60,Pfam_domain:PF08266,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF55,Superfamily_domains:SSF49313											0,1						MODERATE	1	SNV			0,1	1										PASS		rs782318038	.												T	3	4	102	141122093	141122093	A	T	1	0	0	0	0	1	0	0	0	11631	449	16	4		4	PCDHB4	5	141122093	Missense_Mutation	SNP	A	C3N-02529_TP	106183103	141122093	40416166	29	31538											
PCDHB11	0	.	GRCh38	chr5	141201838	141201838	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggccgactcgctcaccgtCtacttggtggtggcgttggc	4	10	14	13	4	2	0	1	0	1	0	3	1	2	0	2	5	1	2	2	5	1	3	rs150158596		C3N-02529_TP	C3N-02529_NB	C	C																c.2064C>G	p.=	p.V688V	ENST00000354757	1/1	489	418	71	578	576	2	strelka-varscan-mutect	PCDHB11,synonymous_variant,p.=,ENST00000354757,NM_018931.2;PCDHB11,synonymous_variant,p.=,ENST00000624887,;CH17-140K24.2,intron_variant,,ENST00000624192,;CH17-140K24.7,upstream_gene_variant,,ENST00000624549,;	G	ENST00000354757	Transcript	synonymous_variant	2257/4198	2064/2394	688/797	V	gtC/gtG	rs150158596	1		1	PCDHB11	HGNC	HGNC:8682	protein_coding	YES	CCDS4253.1	ENSP00000346802	Q9Y5F2		UPI00001273E6	NM_018931.2			1/1		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF91																	LOW		SNV				1										PASS		rs150158596	.												G	2	3	102	141201838	141201838	C	G	1	0	0	0	0	0	0	0	1	11623	900	32	4		4	PCDHB11	5	141201838	Silent	SNP	C	C3N-02529_TP	79745	141201838	40336421	30	31539											
CSF1R	0	.	GRCh38	chr5	150056134	150056134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccacttcacaggcaggcGggcctgggatgacagtcccc	8	6	12	15	1	1	1	1	1	0	0	3	2	3	2	4	4	0	1	4	4	0	1	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.2446C>T	p.Arg816Cys	p.R816C	ENST00000286301	19/22	139	117	22	120	120	0	strelka-varscan-mutect	CSF1R,missense_variant,p.Arg816Cys,ENST00000286301,NM_001288705.1,NM_005211.3;HMGXB3,downstream_gene_variant,,ENST00000613459,;HMGXB3,downstream_gene_variant,,ENST00000503427,;HMGXB3,downstream_gene_variant,,ENST00000502717,NM_014983.2;CSF1R,downstream_gene_variant,,ENST00000515239,;CSF1R,3_prime_UTR_variant,,ENST00000504875,;CSF1R,3_prime_UTR_variant,,ENST00000515068,;CSF1R,upstream_gene_variant,,ENST00000509861,;CSF1R,downstream_gene_variant,,ENST00000513609,;	A	ENST00000286301	Transcript	missense_variant	2738/3989	2446/2919	816/972	R/C	Cgc/Tgc		1		-1	CSF1R	HGNC	HGNC:2433	protein_coding	YES	CCDS4302.1	ENSP00000286301	P07333		UPI000004984A	NM_001288705.1,NM_005211.3	deleterious(0)		19/22		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF47,hmmpanther:PTHR24416,Pfam_domain:PF07714,PIRSF_domain:PIRSF000615,Gene3D:1.10.510.10,PIRSF_domain:PIRSF500947,SMART_domains:SM00219,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	102	150056134	150056134	G	A	1	0	0	0	0	1	0	0	0	3733	1130	39	1		1	CSF1R	5	150056134	Missense_Mutation	SNP	G	C3N-02529_TP	8854296	150056134	31482125	31	31540											
HRH2	0	.	GRCh38	chr5	175684041	175684041	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgccatcaatgaggtgttaGaagccatcgttctgtggctg	9	12	12	8	1	2	2	1	1	1	1	3	2	2	2	2	2	2	3	2	2	3	2	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.808G>C	p.Glu270Gln	p.E270Q	ENST00000377291	2/3	508	463	45	431	430	1	strelka-varscan-mutect	HRH2,missense_variant,p.Glu270Gln,ENST00000636584,;HRH2,missense_variant,p.Glu270Gln,ENST00000377291,NM_001131055.1;HRH2,missense_variant,p.Glu270Gln,ENST00000231683,NM_022304.2;HRH2,missense_variant,p.Glu270Gln,ENST00000624694,;	C	ENST00000377291	Transcript	missense_variant	1459/2561	808/1194	270/397	E/Q	Gaa/Caa		1		1	HRH2	HGNC	HGNC:5183	protein_coding	YES	CCDS47344.1	ENSP00000366506	P25021		UPI00001B2326	NM_001131055.1	tolerated(0.29)		2/3		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249:SF280,hmmpanther:PTHR24249,Pfam_domain:PF00001,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00531																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	102	175684041	175684041	G	C	1	0	0	0	0	1	0	0	0	7251	943	33	4		4	HRH2	5	175684041	Missense_Mutation	SNP	G	C3N-02529_TP	25627907	175684041	5854218	32	31541											
SUPT3H	0	.	GRCh38	chr6	45322889	45322889	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctcacctgtcaaagtTgaagaacgttgttccaaaga	12	12	8	9	1	3	3	2	1	2	2	5	3	4	3	2	0	1	3	2	0	4	3	novel		C3N-02529_TP	C3N-02529_NB	T	T																c.28A>G	p.Asn10Asp	p.N10D	ENST00000371460	3/13	235	214	21	220	220	0	strelka-varscan-mutect	SUPT3H,missense_variant,p.Asn10Asp,ENST00000371460,NM_181356.2;SUPT3H,intron_variant,,ENST00000371459,NM_003599.3;SUPT3H,intron_variant,,ENST00000459689,;SUPT3H,intron_variant,,ENST00000475057,;	C	ENST00000371460	Transcript	missense_variant	346/2389	28/987	10/328	N/D	Aac/Gac		1		-1	SUPT3H	HGNC	HGNC:11466	protein_coding	YES	CCDS34466.1	ENSP00000360515	O75486		UPI000018CE7C	NM_181356.2	tolerated_low_confidence(0.06)		3/13																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	102	45322889	45322889	T	C	1	0	0	0	0	1	0	0	0	15784	1812	63	5		5	SUPT3H	6	45322889	Missense_Mutation	SNP	T	C3N-02529_TP		45322889	125483090	33	31542											
MEP1A	0	.	GRCh38	chr6	46825480	46825480	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttagagaggctgaaccgAatgtacaattgcagtgagta	14	10	12	5	1	0	3	0	2	0	1	0	6	0	3	1	1	3	4	1	1	6	5	novel		C3N-02529_TP	C3N-02529_NB	A	A																c.765A>C	p.=	p.R255R	ENST00000230588	8/14	132	121	11	122	122	0	strelka-varscan-mutect	MEP1A,synonymous_variant,p.=,ENST00000611727,;MEP1A,synonymous_variant,p.=,ENST00000230588,NM_005588.2;	C	ENST00000230588	Transcript	synonymous_variant	774/2892	765/2241	255/746	R	cgA/cgC		1		1	MEP1A	HGNC	HGNC:7015	protein_coding	YES	CCDS4918.1	ENSP00000230588	Q16819		UPI000006E4E9	NM_005588.2			8/14		Gene3D:3.40.390.10,Pfam_domain:PF01400,PIRSF_domain:PIRSF001196,Prints_domain:PR00480,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF311,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	102	46825480	46825480	A	C	1	0	0	0	0	0	0	0	1	9420	233	9	5		5	MEP1A	6	46825480	Silent	SNP	A	C3N-02529_TP	1502591	46825480	123980499	34	31543											
PHF3	0	.	GRCh38	chr6	63706171	63706171	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatattttggcttctgaattCtttgaggaggagaaacagga	13	13	11	4	0	2	3	0	2	2	1	2	6	2	5	0	4	1	1	0	4	4	6	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.3510C>G	p.Phe1170Leu	p.F1170L	ENST00000262043	12/16	168	155	13	118	118	0	strelka-varscan-mutect	PHF3,missense_variant,p.Phe1170Leu,ENST00000262043,NM_001290259.1;PHF3,missense_variant,p.Phe1170Leu,ENST00000393387,NM_015153.3;PHF3,missense_variant,p.Phe984Leu,ENST00000506783,;PHF3,missense_variant,p.Phe439Leu,ENST00000515594,;PHF3,upstream_gene_variant,,ENST00000505138,;PHF3,downstream_gene_variant,,ENST00000503248,;PHF3,3_prime_UTR_variant,,ENST00000509876,;	G	ENST00000262043	Transcript	missense_variant	3850/8233	3510/6120	1170/2039	F/L	ttC/ttG		1		1	PHF3	HGNC	HGNC:8921	protein_coding	YES	CCDS4966.1	ENSP00000262043	Q92576		UPI000007154D	NM_001290259.1	tolerated(1)		12/16		hmmpanther:PTHR11477,hmmpanther:PTHR11477:SF10																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	102	63706171	63706171	C	G	1	0	0	0	0	1	0	0	0	11923	912	32	4		4	PHF3	6	63706171	Missense_Mutation	SNP	C	C3N-02529_TP	16880691	63706171	107099808	35	31544											
SYTL3	0	.	GRCh38	chr6	158757234	158757234	+	Frame_Shift_Del	DEL	G	G	-																															caggtggcccctgcccagctGgtgacccggcagctgcaggt																								novel		C3N-02529_TP	C3N-02529_NB	G	G																c.1162delG	p.Val388Ter	p.V388*	ENST00000611299	14/18	125	91	34	123	123	0	sindel-varindel-pindel	SYTL3,frameshift_variant,p.Val388Ter,ENST00000611299,NM_001242394.1;SYTL3,frameshift_variant,p.Val320Ter,ENST00000367081,NM_001242395.1,NM_001009991.3;SYTL3,frameshift_variant,p.Val388Ter,ENST00000360448,NM_001242384.1;SYTL3,frameshift_variant,p.Val388Ter,ENST00000297239,;	-	ENST00000611299	Transcript	frameshift_variant	1952/2896	1161/1833	387/610	L/X	ctG/ct		1		1	SYTL3	HGNC	HGNC:15587	protein_coding	YES	CCDS56458.1	ENSP00000483936	Q4VX76		UPI000015FE68	NM_001242394.1			14/18		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF222,SMART_domains:SM00239,Superfamily_domains:SSF49562																	HIGH	1	deletion	5	1		1										PASS		.	.												-	7	5	102	158757234	158757234	G	-	1	0	1	0	1	0	0	0	0	15878	1335	47	0		0	SYTL3	6	158757234	Frame_Shift_Del	DEL	G	C3N-02529_TP	95051063	158757234	12048745	36	31545											
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcacagattttgggcTggccaaactgctgggtgcgg	9	9	14	9	1	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	2	2	rs121434568		C3N-02529_TP	C3N-02529_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	647	458	189	531	530	1	strelka-varscan-mutect	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		rs121434568	.												G	3	3	102	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3N-02529_TP		55191822	104154151	37	31546											
CLIP2	0	.	GRCh38	chr7	74403838	74403838	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctttactctctctaggAcaagcactgatcctgagggg	8	11	10	12	0	2	2	0	2	2	0	4	3	3	3	2	3	3	1	2	3	3	3			C3N-02529_TP	C3N-02529_NB	A	A																c.3131A>G	p.Asp1044Gly	p.D1044G	ENST00000223398	17/17	500	461	39	344	344	0	strelka-varscan-mutect	CLIP2,missense_variant,p.Asp1044Gly,ENST00000223398,NM_003388.4;CLIP2,missense_variant,p.Asp1009Gly,ENST00000361545,NM_032421.2;CLIP2,missense_variant,p.Asp1044Gly,ENST00000395060,;CLIP2,missense_variant,p.Asp26Gly,ENST00000487447,;	G	ENST00000223398	Transcript	missense_variant,splice_region_variant	3458/5563	3131/3141	1044/1046	D/G	gAc/gGc	COSM1091661,COSM1597126	1		1	CLIP2	HGNC	HGNC:2586	protein_coding	YES	CCDS5569.1	ENSP00000223398	Q9UDT6		UPI000007061E	NM_003388.4	tolerated_low_confidence(0.08)		17/17													1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1178852228	.												G	3	3	102	74403838	74403838	A	G	1	0	0	0	0	1	0	0	0	3302	289	10	5		5	CLIP2	7	74403838	Missense_Mutation	SNP	A	C3N-02529_TP	19212016	74403838	84942135	38	31547											
MUC17	0	.	GRCh38	chr7	101043721	101043721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaaaacccagcacacggaCcacttccttccccacggtga	12	5	7	17	2	0	1	0	1	0	0	2	3	2	2	5	2	2	1	5	2	2	2	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.12305C>A	p.Thr4102Asn	p.T4102N	ENST00000306151	3/13	292	273	19	168	167	1	strelka-varscan-mutect	MUC17,missense_variant,p.Thr4102Asn,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr4102Asn,ENST00000379439,;MUC17,non_coding_transcript_exon_variant,,ENST00000470303,;	A	ENST00000306151	Transcript	missense_variant	12369/14247	12305/13482	4102/4493	T/N	aCc/aAc		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1	deleterious(0)		3/13		Low_complexity_(Seg):seg,hmmpanther:PTHR37999:SF1,hmmpanther:PTHR37999																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	102	101043721	101043721	C	A	1	0	0	0	0	1	0	0	0	9973	507	18	2		2	MUC17	7	101043721	Missense_Mutation	SNP	C	C3N-02529_TP	26639883	101043721	58302252	39	31548											
LRRC17	0	.	GRCh38	chr7	102934084	102934084	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcccgtgtgacgtgtaCacatatctccatgagaaata	11	10	9	11	2	1	2	0	2	1	1	3	3	2	2	3	1	1	1	3	1	4	3	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.171C>T	p.=	p.Y57Y	ENST00000339431	2/4	243	197	46	180	180	0	strelka-varscan-mutect	LRRC17,synonymous_variant,p.=,ENST00000249377,NM_005824.2;LRRC17,synonymous_variant,p.=,ENST00000339431,NM_001031692.2;LRRC17,synonymous_variant,p.=,ENST00000455453,;FBXL13,intron_variant,,ENST00000313221,NM_145032.3;FBXL13,intron_variant,,ENST00000379308,;FBXL13,intron_variant,,ENST00000436908,;FBXL13,intron_variant,,ENST00000379305,NM_001287150.1;FBXL13,intron_variant,,ENST00000455112,NM_001111038.1;FBXL13,intron_variant,,ENST00000456695,;FBXL13,intron_variant,,ENST00000477915,;LRRC17,upstream_gene_variant,,ENST00000485478,;FBXL13,upstream_gene_variant,,ENST00000468216,;LRRC17,downstream_gene_variant,,ENST00000498487,;FBXL13,intron_variant,,ENST00000448002,;	T	ENST00000339431	Transcript	synonymous_variant	466/1963	171/1326	57/441	Y	taC/taT		1		1	LRRC17	HGNC	HGNC:16895	protein_coding	YES	CCDS34721.1	ENSP00000344242	Q8N6Y2		UPI00000719CD	NM_001031692.2			2/4		hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF323,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	102	102934084	102934084	C	T	1	0	0	0	0	0	0	0	1	8868	489	17	3		3	LRRC17	7	102934084	Silent	SNP	C	C3N-02529_TP	1890363	102934084	56411889	40	31549											
SND1	0	.	GRCh38	chr7	128091998	128091998	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttttttcttacagctgaaCctgtggcgctatggagactt	7	16	10	8	1	1	2	0	1	1	1	1	3	1	2	1	2	3	3	1	2	3	6	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.2673C>T	p.=	p.N891N	ENST00000354725	24/24	236	219	17	158	158	0	strelka-varscan-mutect	SND1,synonymous_variant,p.=,ENST00000354725,NM_014390.2;SND1,non_coding_transcript_exon_variant,,ENST00000485871,;SND1,non_coding_transcript_exon_variant,,ENST00000489417,;	T	ENST00000354725	Transcript	synonymous_variant	2867/3476	2673/2733	891/910	N	aaC/aaT		1		1	SND1	HGNC	HGNC:30646	protein_coding	YES	CCDS34747.1	ENSP00000346762	Q7KZF4	A0A140VK49	UPI00000727E5	NM_014390.2			24/24		Superfamily_domains:0047647,Gene3D:2.40.50.90,Pfam_domain:PF00565,PIRSF_domain:PIRSF017179,hmmpanther:PTHR12302,hmmpanther:PTHR12302:SF5																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	102	128091998	128091998	C	T	1	0	0	0	0	0	0	0	1	15165	521	18	3		3	SND1	7	128091998	Silent	SNP	C	C3N-02529_TP	25157914	128091998	31253975	41	31550											
OR2F2	0	.	GRCh38	chr7	143935381	143935381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcattgtccttctgatcaGactggacagccgactccaca	9	11	7	14	1	3	2	2	1	2	1	6	4	5	3	3	1	1	0	3	1	0	2	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.149G>A	p.Arg50Lys	p.R50K	ENST00000408955	1/1	233	218	15	206	206	0	varscan-mutect	OR2F2,missense_variant,p.Arg50Lys,ENST00000408955,NM_001004685.1;	A	ENST00000408955	Transcript	missense_variant	216/1114	149/954	50/317	R/K	aGa/aAa		1		1	OR2F2	HGNC	HGNC:8247	protein_coding	YES	CCDS43666.1	ENSP00000386222	O95006		UPI0000041C25	NM_001004685.1	tolerated(0.21)		1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF63,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	102	143935381	143935381	G	A	1	0	0	0	0	1	0	0	0	11075	942	33	3		3	OR2F2	7	143935381	Missense_Mutation	SNP	G	C3N-02529_TP	15843383	143935381	15410592	42	31551											
GIMAP8	0	.	GRCh38	chr7	150477727	150477727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aactaattaaaaatgtccagGaaatgtcccaagccgaaaaa	20	7	6	8	1	0	0	0	0	0	0	2	2	2	1	3	1	2	0	3	1	9	2	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.1945G>A	p.Glu649Lys	p.E649K	ENST00000307271	5/5	222	201	21	184	184	0	strelka-varscan-mutect	GIMAP8,missense_variant,p.Glu649Lys,ENST00000307271,NM_175571.3;	A	ENST00000307271	Transcript	missense_variant	2519/4184	1945/1998	649/665	E/K	Gaa/Aaa		1		1	GIMAP8	HGNC	HGNC:21792	protein_coding	YES	CCDS34777.1	ENSP00000305107	Q8ND71	A0A090N8H2	UPI0000168646	NM_175571.3	tolerated(0.28)		5/5		hmmpanther:PTHR10903:SF73,hmmpanther:PTHR10903,Pfam_domain:PF04548																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	102	150477727	150477727	G	A	1	0	0	0	0	1	0	0	0	6265	1175	41	3		3	GIMAP8	7	150477727	Missense_Mutation	SNP	G	C3N-02529_TP	6542346	150477727	8868246	43	31552											
CSMD1	0	.	GRCh38	chr8	3087194	3087194	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accattcggtatccaggcttGcaaaaataatgcactttgct	12	12	7	10	1	0	0	0	0	0	0	2	0	1	0	2	2	3	5	2	2	4	5	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.7380C>A	p.Cys2460Ter	p.C2460*	ENST00000520002	50/71	383	352	31	252	252	0	strelka-varscan-mutect	CSMD1,stop_gained,p.Cys2321Ter,ENST00000537824,;CSMD1,stop_gained,p.Cys1877Ter,ENST00000335551,;CSMD1,stop_gained,p.Cys2460Ter,ENST00000520002,;CSMD1,stop_gained,p.Cys2460Ter,ENST00000602557,;CSMD1,stop_gained,p.Cys2459Ter,ENST00000635120,NM_033225.5;CSMD1,stop_gained,p.Cys2460Ter,ENST00000400186,;CSMD1,stop_gained,p.Cys2460Ter,ENST00000602723,;	T	ENST00000520002	Transcript	stop_gained	7936/11740	7380/10698	2460/3565	C/*	tgC/tgA		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB				50/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	102	3087194	3087194	G	T	1	0	0	0	0	0	1	0	0	3745	1311	46	2		2	CSMD1	8	3087194	Nonsense_Mutation	SNP	G	C3N-02529_TP		3087194	142051442	44	31553											
PRDM14	0	.	GRCh38	chr8	70069839	70069839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtcctgaggcacggcctCacttggccggggtagagcca	6	8	14	13	2	1	2	1	1	0	1	2	2	2	2	4	5	1	2	4	5	1	3	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.22G>A	p.Glu8Lys	p.E8K	ENST00000276594	2/8	148	133	15	108	108	0	strelka-varscan-mutect	PRDM14,missense_variant,p.Glu8Lys,ENST00000276594,NM_024504.3;PRDM14,missense_variant,p.Glu8Lys,ENST00000426346,;	T	ENST00000276594	Transcript	missense_variant	224/2344	22/1716	8/571	E/K	Gag/Aag		1		-1	PRDM14	HGNC	HGNC:14001	protein_coding	YES	CCDS6206.1	ENSP00000276594	Q9GZV8		UPI0000132186	NM_024504.3	tolerated(0.09)		2/8																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	102	70069839	70069839	C	T	1	0	0	0	0	1	0	0	0	12586	835	29	3		3	PRDM14	8	70069839	Missense_Mutation	SNP	C	C3N-02529_TP	66982645	70069839	75068797	45	31554											
FABP12	0	.	GRCh38	chr8	81525082	81525082	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtttgatgatactttctcGtatgttcgtgtacagataac	10	16	9	6	2	1	3	0	2	1	1	3	4	1	3	0	0	3	4	0	0	4	7	rs781709156		C3N-02529_TP	C3N-02529_NB	G	G																c.387C>G	p.Tyr129Ter	p.Y129*	ENST00000360464	4/4	280	221	59	177	177	0	strelka-varscan-mutect	FABP12,stop_gained,p.Tyr129Ter,ENST00000360464,NM_001105281.1;RP11-257P3.3,intron_variant,,ENST00000523380,;RP11-257P3.3,intron_variant,,ENST00000518637,;RP11-157I4.4,downstream_gene_variant,,ENST00000524085,;FABP12,3_prime_UTR_variant,,ENST00000519696,;FTH1P11,upstream_gene_variant,,ENST00000517577,;	C	ENST00000360464	Transcript	stop_gained	450/551	387/423	129/140	Y/*	taC/taG	rs781709156,COSM299934,COSM3835064	1		-1	FABP12	HGNC	HGNC:34524	protein_coding	YES	CCDS47882.1	ENSP00000353650	A6NFH5		UPI00001B2E3D	NM_001105281.1			4/4		hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF76,Gene3D:2.40.128.20,Pfam_domain:PF00061,Superfamily_domains:SSF50814,Prints_domain:PR00178											0,1,1						HIGH	1	SNV	1		0,1,1	1										PASS		rs765561681	.												C	4	2	102	81525082	81525082	G	C	1	0	0	0	0	0	1	0	0	5228	1140	40	4		4	FABP12	8	81525082	Nonsense_Mutation	SNP	G	C3N-02529_TP	11455243	81525082	63613554	46	31555											
MROH6	0	.	GRCh38	chr8	143569819	143569819	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcccgcaggagccgtgCggtgggccggctctgcaaca	5	6	14	16	4	1	0	0	0	1	0	3	1	3	1	4	4	4	3	4	4	1	0	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.1180G>T	p.Ala394Ser	p.A394S	ENST00000398882	8/14	264	247	17	137	137	0	strelka-varscan-mutect	MROH6,missense_variant,p.Ala394Ser,ENST00000398882,NM_001100878.1;MROH6,missense_variant,p.Arg406Leu,ENST00000529971,;NAPRT,downstream_gene_variant,,ENST00000449291,NM_145201.5;MROH6,upstream_gene_variant,,ENST00000533679,;NAPRT,downstream_gene_variant,,ENST00000435154,;MROH6,upstream_gene_variant,,ENST00000524906,;MROH6,upstream_gene_variant,,ENST00000534459,;NAPRT,downstream_gene_variant,,ENST00000426292,NM_001286829.1;MROH6,upstream_gene_variant,,ENST00000532862,;RP11-661A12.9,upstream_gene_variant,,ENST00000531730,;MROH6,upstream_gene_variant,,ENST00000532704,;MROH6,upstream_gene_variant,,ENST00000533582,;MROH6,upstream_gene_variant,,ENST00000533210,;NAPRT,downstream_gene_variant,,ENST00000340490,;NAPRT,downstream_gene_variant,,ENST00000464332,;MROH6,upstream_gene_variant,,ENST00000533120,;NAPRT,downstream_gene_variant,,ENST00000460623,;MROH6,upstream_gene_variant,,ENST00000533083,;NAPRT,downstream_gene_variant,,ENST00000529179,;NAPRT,downstream_gene_variant,,ENST00000498076,;	A	ENST00000398882	Transcript	missense_variant	1437/3469	1180/2160	394/719	A/S	Gca/Tca		1		-1	MROH6	HGNC	HGNC:27814	protein_coding	YES	CCDS47928.1	ENSP00000381857	A6NGR9		UPI0000DD7EFB	NM_001100878.1	tolerated(0.32)		8/14		hmmpanther:PTHR23120:SF7,hmmpanther:PTHR23120,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	102	143569819	143569819	C	A	1	0	0	0	0	1	0	0	0	9746	768	27	1		1	MROH6	8	143569819	Missense_Mutation	SNP	C	C3N-02529_TP	62044737	143569819	1568817	47	31556											
LRRC24	0	.	GRCh38	chr8	144522953	144522953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagccggaagggcacgCgggcagcgccgccggcgttg	6	2	19	14	7	0	0	0	0	0	0	0	2	0	2	4	5	2	3	4	5	1	1	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.1064G>A	p.Arg355His	p.R355H	ENST00000529415	5/5	234	217	17	116	116	0	strelka-mutect	LRRC24,missense_variant,p.Arg355His,ENST00000529415,NM_001024678.3;LRRC24,missense_variant,p.Arg352His,ENST00000533758,;LRRC14,3_prime_UTR_variant,,ENST00000292524,NM_014665.3;C8orf82,downstream_gene_variant,,ENST00000524821,NM_001001795.1;LRRC14,downstream_gene_variant,,ENST00000529022,NM_001272036.1;C8orf82,downstream_gene_variant,,ENST00000313465,;LRRC14,downstream_gene_variant,,ENST00000527730,;C8orf82,downstream_gene_variant,,ENST00000532827,;LRRC14,downstream_gene_variant,,ENST00000530854,;LRRC14,downstream_gene_variant,,ENST00000525766,;LRRC14,non_coding_transcript_exon_variant,,ENST00000528528,;LRRC14,upstream_gene_variant,,ENST00000529995,;LRRC14,upstream_gene_variant,,ENST00000530242,;C8orf82,downstream_gene_variant,,ENST00000534680,;LRRC14,downstream_gene_variant,,ENST00000531310,;	T	ENST00000529415	Transcript	missense_variant	1182/1758	1064/1542	355/513	R/H	cGc/cAc		1		-1	LRRC24	HGNC	HGNC:28947	protein_coding	YES	CCDS34969.1	ENSP00000434849	Q50LG9		UPI0000419443	NM_001024678.3	deleterious(0.02)		5/5		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF255,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	102	144522953	144522953	C	T	1	0	0	0	0	1	0	0	0	8874	768	27	1		1	LRRC24	8	144522953	Missense_Mutation	SNP	C	C3N-02529_TP	953134	144522953	615683	48	31557											
MPDZ	0	.	GRCh38	chr9	13222411	13222411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagagcctgtccattgataGcaagaatttgatcagtttct	12	13	8	8	0	2	4	1	2	1	2	3	4	3	4	2	0	2	2	2	0	4	4	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.569C>T	p.Ala190Val	p.A190V	ENST00000541718	6/46	163	142	21	170	170	0	strelka-varscan-mutect	MPDZ,missense_variant,p.Ala190Val,ENST00000319217,;MPDZ,missense_variant,p.Ala190Val,ENST00000541718,NM_003829.4;MPDZ,missense_variant,p.Ala190Val,ENST00000381022,NM_001261406.1;MPDZ,missense_variant,p.Ala190Val,ENST00000546205,;MPDZ,missense_variant,p.Ala190Val,ENST00000447879,;MPDZ,missense_variant,p.Ala190Val,ENST00000536827,NM_001261407.1;MPDZ,upstream_gene_variant,,ENST00000494251,;	A	ENST00000541718	Transcript	missense_variant	791/7603	569/6126	190/2041	A/V	gCt/gTt		1		-1	MPDZ	HGNC	HGNC:7208	protein_coding	YES	CCDS47951.1	ENSP00000439807	O75970		UPI00015367D3	NM_003829.4	tolerated(0.07)		6/46		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF10,SMART_domains:SM00228,Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1										PASS		rs1031665272	.												A	3	1	102	13222411	13222411	G	A	1	0	0	0	0	1	0	0	0	9687	971	34	3		3	MPDZ	9	13222411	Missense_Mutation	SNP	G	C3N-02529_TP		13222411	125172306	49	31558											
ACER2	0	.	GRCh38	chr9	19435032	19435032	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccatcaacaacatctctCtgatgaccctgggagttcct	9	11	7	14	0	3	2	1	2	2	0	5	3	4	3	3	1	3	1	3	1	2	1	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.451C>T	p.=	p.L151L	ENST00000340967	4/6	271	241	30	256	256	0	strelka-varscan-mutect	ACER2,synonymous_variant,p.=,ENST00000340967,NM_001010887.2;	T	ENST00000340967	Transcript	synonymous_variant	477/2238	451/828	151/275	L	Ctg/Ttg		1		1	ACER2	HGNC	HGNC:23675	protein_coding	YES	CCDS34992.1	ENSP00000342609	Q5QJU3		UPI000014042D	NM_001010887.2			4/6		hmmpanther:PTHR12956,hmmpanther:PTHR12956:SF21,Pfam_domain:PF05875																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	102	19435032	19435032	C	T	1	0	0	0	0	0	0	0	1	177	912	32	3		3	ACER2	9	19435032	Silent	SNP	C	C3N-02529_TP	6212621	19435032	118959685	50	31559											
IZUMO3	0	.	GRCh38	chr9	24545047	24545047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcgagaagcttgccttGatagataaagacacctaaga	16	8	9	8	1	0	5	0	1	0	4	1	7	0	5	2	0	2	1	2	0	5	5	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.316C>A	p.Gln106Lys	p.Q106K	ENST00000604921	3/6	174	157	17	237	237	0	strelka-varscan-mutect	IZUMO3,missense_variant,p.Gln106Lys,ENST00000543880,;IZUMO3,missense_variant,p.Gln106Lys,ENST00000604921,NM_001271706.1;IZUMO3,missense_variant,p.Gln25Lys,ENST00000418122,;RP11-20A20.2,upstream_gene_variant,,ENST00000602851,;RP11-20A20.2,upstream_gene_variant,,ENST00000602614,;	T	ENST00000604921	Transcript	missense_variant	343/743	316/702	106/233	Q/K	Caa/Aaa		1		-1	IZUMO3	HGNC	HGNC:31421	protein_coding	YES	CCDS65020.1	ENSP00000474246		S4R3E6	UPI0002742D6C	NM_001271706.1	deleterious(0.01)		3/6		hmmpanther:PTHR36470,Pfam_domain:PF15005																	MODERATE	1	SNV	5			1										PASS		rs1424807148	.												T	3	4	102	24545047	24545047	G	T	1	0	0	0	0	1	0	0	0	7842	1299	45	2		2	IZUMO3	9	24545047	Missense_Mutation	SNP	G	C3N-02529_TP	5110015	24545047	113849670	51	31560											
TRPM3	0	.	GRCh38	chr9	70536094	70536094	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgtgttccgctgcctGtcgagtttgtcactgatgga	4	15	12	10	2	1	1	1	1	0	0	3	3	2	2	2	1	2	4	2	1	0	3	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.4983C>G	p.Asp1661Glu	p.D1661E	ENST00000377110	25/25	236	221	15	196	196	0	strelka-varscan-mutect	TRPM3,missense_variant,p.Asp1661Glu,ENST00000377110,NM_001007471.2;TRPM3,missense_variant,p.Asp1523Glu,ENST00000360823,NM_206944.3,NM_206947.3;TRPM3,missense_variant,p.Asp1520Glu,ENST00000377105,NM_024971.5;TRPM3,missense_variant,p.Asp1665Glu,ENST00000357533,;TRPM3,missense_variant,p.Asp1533Glu,ENST00000396292,NM_206946.3;TRPM3,missense_variant,p.Asp1523Glu,ENST00000358082,;TRPM3,missense_variant,p.Asp1520Glu,ENST00000396285,NM_020952.4;TRPM3,missense_variant,p.Asp1520Glu,ENST00000408909,;TRPM3,missense_variant,p.Asp1510Glu,ENST00000396280,NM_206945.3;TRPM3,intron_variant,,ENST00000377111,;	C	ENST00000377110	Transcript	missense_variant	5227/12258	4983/5124	1661/1707	D/E	gaC/gaG		1		-1	TRPM3	HGNC	HGNC:17992	protein_coding	YES	CCDS43835.1	ENSP00000366314	Q9HCF6		UPI0001596895	NM_001007471.2	tolerated_low_confidence(0.25)		25/25		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	102	70536094	70536094	G	C	1	0	0	0	0	1	0	0	0	17093	1368	48	4		4	TRPM3	9	70536094	Missense_Mutation	SNP	G	C3N-02529_TP	45991047	70536094	67858623	52	31561											
TRIM14	0	.	GRCh38	chr9	98100015	98100015	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatgtcaagttgctctctGcaagagtcagcttgttccct	8	14	9	10	0	3	2	2	1	1	1	5	2	4	2	1	0	3	5	1	0	2	3	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.453C>A	p.Cys151Ter	p.C151*	ENST00000341469	3/6	463	418	45	299	299	0	strelka-varscan-mutect	TRIM14,stop_gained,p.Cys151Ter,ENST00000341469,NM_014788.3;TRIM14,stop_gained,p.Cys151Ter,ENST00000375098,;TRIM14,stop_gained,p.Cys151Ter,ENST00000342043,NM_033219.2;TRIM14,non_coding_transcript_exon_variant,,ENST00000478401,;TRIM14,intron_variant,,ENST00000475147,;	T	ENST00000341469	Transcript	stop_gained	463/4454	453/1329	151/442	C/*	tgC/tgA		1		-1	TRIM14	HGNC	HGNC:16283	protein_coding	YES	CCDS6734.1	ENSP00000344208	Q14142	A0A024R165	UPI0000137065	NM_014788.3			3/6		hmmpanther:PTHR24103:SF35,hmmpanther:PTHR24103																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	102	98100015	98100015	G	T	1	0	0	0	0	0	1	0	0	16978	1311	46	2		2	TRIM14	9	98100015	Nonsense_Mutation	SNP	G	C3N-02529_TP	27563921	98100015	40294702	53	31562											
MURC	0	.	GRCh38	chr9	100578213	100578213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgtcgagtgttacagaaGatgaagaccaagacgctgct	12	8	12	9	2	0	5	0	1	0	4	1	6	0	5	2	0	2	3	2	0	4	1	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.70G>A	p.Asp24Asn	p.D24N	ENST00000307584	1/2	140	122	18	104	104	0	strelka-varscan-mutect	MURC,missense_variant,p.Asp24Asn,ENST00000307584,NM_001018116.2;TMEFF1,downstream_gene_variant,,ENST00000374879,NM_003692.4;MSANTD3-TMEFF1,downstream_gene_variant,,ENST00000502978,NM_001198812.1;RN7SKP87,downstream_gene_variant,,ENST00000364096,;	A	ENST00000307584	Transcript	missense_variant	135/2615	70/1095	24/364	D/N	Gat/Aat		1		1	MURC	HGNC	HGNC:33742	protein_coding	YES	CCDS35083.1	ENSP00000418668	Q5BKX8		UPI000004CC0D	NM_001018116.2	deleterious(0.01)		1/2		hmmpanther:PTHR15240,hmmpanther:PTHR15240:SF4																	MODERATE	1	SNV	1			1										PASS		rs1234079781	.												A	3	1	102	100578213	100578213	G	A	1	0	0	0	0	1	0	0	0	9985	942	33	3		3	MURC	9	100578213	Missense_Mutation	SNP	G	C3N-02529_TP	2478198	100578213	37816504	54	31563											
SVEP1	0	.	GRCh38	chr9	110429958	110429958	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagtaaatgctaactcCtcaatgcaaccattttctgg	14	11	5	11	0	2	0	1	0	1	0	3	0	3	0	3	1	4	3	3	1	7	4	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.5577G>C	p.Glu1859Asp	p.E1859D	ENST00000374469	34/48	291	267	24	259	259	0	strelka-varscan-mutect	SVEP1,missense_variant,p.Glu1862Asp,ENST00000401783,;SVEP1,missense_variant,p.Glu1859Asp,ENST00000374469,NM_153366.3;	G	ENST00000374469	Transcript	missense_variant	5772/12194	5577/10716	1859/3571	E/D	gaG/gaC		1		-1	SVEP1	HGNC	HGNC:15985	protein_coding	YES	CCDS48004.1	ENSP00000363593	Q4LDE5		UPI000153DA74	NM_153366.3	tolerated(0.92)		34/48		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	102	110429958	110429958	C	G	1	0	0	0	0	1	0	0	0	15805	680	24	4		4	SVEP1	9	110429958	Missense_Mutation	SNP	C	C3N-02529_TP	9851745	110429958	27964759	55	31564											
CNTRL	0	.	GRCh38	chr9	121125863	121125863	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaagagacattgttgcAgagattgacagaagtcgagc	15	8	13	5	1	0	5	0	2	0	4	1	9	0	5	0	0	2	2	0	0	2	3	rs774635839		C3N-02529_TP	C3N-02529_NB	A	A																c.1952A>C	p.Gln651Pro	p.Q651P	ENST00000373855	14/44	585	542	43	498	498	0	strelka-varscan-mutect	CNTRL,missense_variant,p.Gln651Pro,ENST00000373855,;CNTRL,missense_variant,p.Gln651Pro,ENST00000238341,NM_007018.4;CNTRL,missense_variant,p.Gln99Pro,ENST00000373850,;CNTRL,missense_variant,p.Gln99Pro,ENST00000373847,;CNTRL,non_coding_transcript_exon_variant,,ENST00000373851,;	C	ENST00000373855	Transcript	missense_variant	2212/7660	1952/6978	651/2325	Q/P	cAg/cCg	rs774635839	1		1	CNTRL	HGNC	HGNC:1858	protein_coding	YES	CCDS35118.1	ENSP00000362962	Q7Z7A1		UPI0000211718		deleterious(0.01)		14/44		Coiled-coils_(Ncoils):Coil																	MODERATE	1	SNV	5			1										PASS		rs774635839	.												C	3	2	102	121125863	121125863	A	C	1	0	0	0	0	1	0	0	0	3433	188	7	5		5	CNTRL	9	121125863	Missense_Mutation	SNP	A	C3N-02529_TP	10695905	121125863	17268854	56	31565											
FNBP1	0	.	GRCh38	chr9	129900041	129900041	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaactcgtcgtcaaaatcCgtggccagcaccttcatctc	10	10	6	15	3	4	0	3	0	1	0	8	0	5	0	3	1	2	1	3	1	3	1	rs377247806		C3N-02529_TP	C3N-02529_NB	C	C																c.1611G>T	p.=	p.T537T	ENST00000446176	15/17	122	100	22	90	90	0	strelka-varscan-mutect	FNBP1,synonymous_variant,p.=,ENST00000420781,;FNBP1,synonymous_variant,p.=,ENST00000446176,NM_015033.2;FNBP1,synonymous_variant,p.=,ENST00000443566,;FNBP1,synonymous_variant,p.=,ENST00000449089,;FNBP1,synonymous_variant,p.=,ENST00000355681,;FNBP1,non_coding_transcript_exon_variant,,ENST00000478129,;FNBP1,non_coding_transcript_exon_variant,,ENST00000462766,;	A	ENST00000446176	Transcript	synonymous_variant	1798/5393	1611/1854	537/617	T	acG/acT	rs377247806	1		-1	FNBP1	HGNC	HGNC:17069	protein_coding	YES	CCDS48040.1	ENSP00000413625	Q96RU3		UPI000022408C	NM_015033.2			15/17		hmmpanther:PTHR10663:SF157,hmmpanther:PTHR10663																	LOW	1	SNV	1			1										PASS		rs377247806	.												A	2	1	102	129900041	129900041	C	A	1	0	0	0	0	0	0	0	1	5821	639	23	1		1	FNBP1	9	129900041	Silent	SNP	C	C3N-02529_TP	8774178	129900041	8494676	57	31566											
NUP214	0	.	GRCh38	chr9	131174267	131174267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccccatgcagcaccttttGctaaatctcacctggttcat	8	13	6	14	0	2	0	2	0	1	0	3	0	2	0	4	1	4	4	4	1	2	4	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.3106G>A	p.Ala1036Thr	p.A1036T	ENST00000359428	22/36	460	430	30	325	325	0	strelka-varscan-mutect	NUP214,missense_variant,p.Ala1036Thr,ENST00000359428,NM_005085.3;NUP214,missense_variant,p.Ala1026Thr,ENST00000411637,NM_001318324.1;NUP214,missense_variant,p.Ala465Thr,ENST00000451030,;NUP214,upstream_gene_variant,,ENST00000531929,;NUP214,missense_variant,p.Ala34Thr,ENST00000526346,;NUP214,non_coding_transcript_exon_variant,,ENST00000525980,;	A	ENST00000359428	Transcript	missense_variant	3250/7600	3106/6273	1036/2090	A/T	Gct/Act		1		1	NUP214	HGNC	HGNC:8064	protein_coding	YES	CCDS6940.1	ENSP00000352400	P35658		UPI00001BBB2F	NM_005085.3	tolerated(0.26)		22/36		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF21																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	102	131174267	131174267	G	A	1	0	0	0	0	1	0	0	0	10827	1319	46	3		3	NUP214	9	131174267	Missense_Mutation	SNP	G	C3N-02529_TP	1274226	131174267	7220450	58	31567											
SEC16A	0	.	GRCh38	chr9	136445700	136445700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagttcagagccagggagtGacgctgcagagcttaaaacc	12	6	14	9	1	1	3	1	1	0	2	1	5	1	5	2	2	4	4	2	2	2	2	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.6812C>T	p.Ser2271Leu	p.S2271L	ENST00000313050	27/30	329	309	20	214	214	0	strelka-varscan-mutect	SEC16A,missense_variant,p.Ser2271Leu,ENST00000313050,NM_014866.1;SEC16A,missense_variant,p.Ser993Leu,ENST00000453963,;SEC16A,missense_variant,p.Ser665Leu,ENST00000277537,;SEC16A,missense_variant,p.Ser299Leu,ENST00000313084,;SEC16A,intron_variant,,ENST00000290037,NM_001276418.1;SEC16A,intron_variant,,ENST00000371706,;SEC16A,intron_variant,,ENST00000431893,;SEC16A,upstream_gene_variant,,ENST00000467838,;	A	ENST00000313050	Transcript	missense_variant	6886/8806	6812/7074	2271/2357	S/L	tCa/tTa		1		-1	SEC16A	HGNC	HGNC:29006	protein_coding	YES	CCDS55351.1	ENSP00000325827		J3KNL6	UPI0000F0888B	NM_014866.1	tolerated(1)		27/30		hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF13																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	102	136445700	136445700	G	A	1	0	0	0	0	1	0	0	0	14263	1294	45	3		3	SEC16A	9	136445700	Missense_Mutation	SNP	G	C3N-02529_TP	5271433	136445700	1949017	59	31568											
GDI2	0	.	GRCh38	chr10	5794898	5794898	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacttactagatgccagggcTtctgcttcagtggaaggaac	10	11	11	9	0	2	1	1	0	1	1	2	3	2	3	1	3	5	2	1	3	5	5	novel		C3N-02529_TP	C3N-02529_NB	T	T																c.375A>G	p.=	p.E125E	ENST00000380191	4/11	146	119	27	160	160	0	strelka-varscan-mutect	GDI2,synonymous_variant,p.=,ENST00000380191,NM_001494.3;GDI2,synonymous_variant,p.=,ENST00000456041,;GDI2,synonymous_variant,p.=,ENST00000418688,;GDI2,synonymous_variant,p.=,ENST00000608581,;GDI2,synonymous_variant,p.=,ENST00000380127,;GDI2,intron_variant,,ENST00000380181,NM_001115156.1;GDI2,downstream_gene_variant,,ENST00000609712,;	C	ENST00000380191	Transcript	synonymous_variant	666/2412	375/1338	125/445	E	gaA/gaG		1		-1	GDI2	HGNC	HGNC:4227	protein_coding	YES	CCDS7071.1	ENSP00000369538	P50395	Q6IAT1	UPI000012B39E	NM_001494.3			4/11		hmmpanther:PTHR11787:SF1,hmmpanther:PTHR11787,Pfam_domain:PF00996,Gene3D:1.10.405.10,Superfamily_domains:SSF51905																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	102	5794898	5794898	T	C	1	0	0	0	0	0	0	0	1	6194	1606	56	5		5	GDI2	10	5794898	Silent	SNP	T	C3N-02529_TP		5794898	128002524	60	31569											
ANKRD30A	0	.	GRCh38	chr10	37219392	37219392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctgctttccacattgcagGagatgcttgtttgcaaagaa	11	12	9	9	0	0	2	0	0	0	2	1	3	1	2	2	1	4	5	2	1	2	4	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.3512G>A	p.Gly1171Glu	p.G1171E	ENST00000361713	34/36	162	151	11	263	263	0	strelka-varscan-mutect	ANKRD30A,missense_variant,p.Gly1290Glu,ENST00000374660,;ANKRD30A,missense_variant,p.Gly1227Glu,ENST00000611781,;ANKRD30A,missense_variant,p.Gly1171Glu,ENST00000602533,;ANKRD30A,missense_variant,p.Gly1171Glu,ENST00000361713,NM_052997.2;	A	ENST00000361713	Transcript	missense_variant	3611/4405	3512/4026	1171/1341	G/E	gGa/gAa		1		1	ANKRD30A	HGNC	HGNC:17234	protein_coding	YES	CCDS7193.1	ENSP00000354432		R4GNA2	UPI0000458879	NM_052997.2	tolerated(0.16)		34/36		hmmpanther:PTHR24147:SF20,hmmpanther:PTHR24147,Pfam_domain:PF14915																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	102	37219392	37219392	G	A	1	0	0	0	0	1	0	0	0	761	1174	41	3		3	ANKRD30A	10	37219392	Missense_Mutation	SNP	G	C3N-02529_TP	31424494	37219392	96578030	61	31570											
C10orf62	0	.	GRCh38	chr10	97590181	97590181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgcaccgggaatccttcaCcagcaggcagaagacatctg	11	7	10	13	1	3	2	1	0	2	2	4	3	4	3	3	2	2	3	3	2	2	1	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.284C>T	p.Thr95Ile	p.T95I	ENST00000370640	1/1	354	321	33	329	329	0	strelka-varscan-mutect	C10orf62,missense_variant,p.Thr95Ile,ENST00000370640,NM_001009997.2;HOGA1,intron_variant,,ENST00000370646,NM_138413.3;HOGA1,intron_variant,,ENST00000370647,NM_001134670.1;RP11-548K23.11,intron_variant,,ENST00000370649,;HOGA1,intron_variant,,ENST00000465608,;	T	ENST00000370640	Transcript	missense_variant	455/1208	284/672	95/223	T/I	aCc/aTc		1		1	C10orf62	HGNC	HGNC:23294	protein_coding	YES	CCDS31261.1	ENSP00000359674	Q5T681		UPI000046FEE3	NM_001009997.2	tolerated(0.11)		1/1		hmmpanther:PTHR23008:SF0,hmmpanther:PTHR23008																	MODERATE		SNV				1										PASS		.	.												T	3	4	102	97590181	97590181	C	T	1	0	0	0	0	1	0	0	0	1767	507	18	3		3	C10orf62	10	97590181	Missense_Mutation	SNP	C	C3N-02529_TP	60370789	97590181	36207241	62	31571											
OR5M1	0	.	GRCh38	chr11	56613282	56613282	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatttggagtaacattggaaGaatagcaaatgtctacaaag	17	11	9	4	0	1	1	0	0	1	1	1	3	1	3	0	2	3	2	0	2	8	6	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.221C>G	p.Ser74Cys	p.S74C	ENST00000526538	1/1	393	356	37	535	534	1	varscan-mutect	OR5M1,missense_variant,p.Ser74Cys,ENST00000526538,NM_001004740.1;	C	ENST00000526538	Transcript	missense_variant	221/948	221/948	74/315	S/C	tCt/tGt		1		-1	OR5M1	HGNC	HGNC:8352	protein_coding	YES	CCDS53631.1	ENSP00000435416	Q8NGP8		UPI0000041C9B	NM_001004740.1	deleterious(0)		1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF98,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	102	56613282	56613282	G	C	1	0	0	0	0	1	0	0	0	11241	942	33	4		4	OR5M1	11	56613282	Missense_Mutation	SNP	G	C3N-02529_TP		56613282	78473340	63	31572											
RAB3IL1	0	.	GRCh38	chr11	61899360	61899360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtagcggatgtaggtgaaGaagttgcacactgcggtgat	11	10	15	5	2	0	3	0	2	0	1	0	4	0	4	0	3	3	4	0	3	4	3	rs745743430		C3N-02529_TP	C3N-02529_NB	G	G																c.1020C>A	p.Phe340Leu	p.F340L	ENST00000394836	9/10	207	185	22	179	179	0	strelka-varscan-mutect	RAB3IL1,missense_variant,p.Phe340Leu,ENST00000394836,NM_013401.3;RAB3IL1,missense_variant,p.Phe314Leu,ENST00000301773,NM_001271686.1;RAB3IL1,upstream_gene_variant,,ENST00000526200,;RAB3IL1,non_coding_transcript_exon_variant,,ENST00000533136,;RAB3IL1,downstream_gene_variant,,ENST00000530888,;	T	ENST00000394836	Transcript	missense_variant	1178/2284	1020/1149	340/382	F/L	ttC/ttA	rs745743430	1		-1	RAB3IL1	HGNC	HGNC:9780	protein_coding	YES	CCDS8014.1	ENSP00000378313	Q8TBN0		UPI000007260E	NM_013401.3	tolerated(0.07)		9/10		hmmpanther:PTHR14430:SF1,hmmpanther:PTHR14430																	MODERATE	1	SNV	1			1										PASS		rs745743430	.												T	3	4	102	61899360	61899360	G	T	1	0	0	0	0	1	0	0	0	13096	933	33	2		2	RAB3IL1	11	61899360	Missense_Mutation	SNP	G	C3N-02529_TP	5286078	61899360	73187262	64	31573											
KDM2A	0	.	GRCh38	chr11	67250208	67250208	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acttccatgctgcagctcatCcatgacccggtttccccccg	6	10	7	18	2	1	1	1	1	0	0	4	1	4	1	6	1	3	4	6	1	0	2	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.2178C>G	p.Ile726Met	p.I726M	ENST00000529006	17/21	211	166	45	219	219	0	strelka-varscan-mutect	KDM2A,missense_variant,p.Ile726Met,ENST00000529006,NM_012308.2;KDM2A,missense_variant,p.Ile726Met,ENST00000398645,;KDM2A,missense_variant,p.Ile709Met,ENST00000308783,;KDM2A,missense_variant,p.Ile287Met,ENST00000530342,NM_001256405.1;KDM2A,non_coding_transcript_exon_variant,,ENST00000526258,;KDM2A,non_coding_transcript_exon_variant,,ENST00000531696,;KDM2A,upstream_gene_variant,,ENST00000524657,;KDM2A,downstream_gene_variant,,ENST00000525041,;KDM2A,downstream_gene_variant,,ENST00000534486,;KDM2A,downstream_gene_variant,,ENST00000529124,;	G	ENST00000529006	Transcript	missense_variant	2624/6967	2178/3489	726/1162	I/M	atC/atG		1		1	KDM2A	HGNC	HGNC:13606	protein_coding	YES	CCDS44657.1	ENSP00000432786	Q9Y2K7	I3VM53	UPI00001678A9	NM_012308.2	tolerated(0.07)		17/21		hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF3																	MODERATE	1	SNV	1			1										PASS		rs1391692151	.												G	3	3	102	67250208	67250208	C	G	1	0	0	0	0	1	0	0	0	8042	845	30	4		4	KDM2A	11	67250208	Missense_Mutation	SNP	C	C3N-02529_TP	5350848	67250208	67836414	65	31574											
FCHSD2	0	.	GRCh38	chr11	73083739	73083739	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttcttctgactgaatgTcctaaaaatacaaagaaaaa	18	10	5	8	0	2	3	0	2	2	1	3	3	3	3	2	0	2	0	2	0	8	4	novel		C3N-02529_TP	C3N-02529_NB	T	T																c.121A>T	p.Thr41Ser	p.T41S	ENST00000409418	3/20	157	145	12	191	191	0	strelka-mutect	FCHSD2,missense_variant,p.Thr41Ser,ENST00000409314,;FCHSD2,missense_variant,p.Thr41Ser,ENST00000409418,NM_014824.2;FCHSD2,missense_variant,p.Thr20Ser,ENST00000422375,;FCHSD2,splice_region_variant,,ENST00000311172,;FCHSD2,splice_region_variant,,ENST00000458644,;FCHSD2,splice_region_variant,,ENST00000409853,;	A	ENST00000409418	Transcript	missense_variant,splice_region_variant	505/3154	121/2223	41/740	T/S	Aca/Tca		1		-1	FCHSD2	HGNC	HGNC:29114	protein_coding	YES	CCDS8218.2	ENSP00000386722	O94868		UPI0000251F08	NM_014824.2	tolerated(1)		3/20		PROSITE_profiles:PS51741,hmmpanther:PTHR15735:SF11,hmmpanther:PTHR15735,Pfam_domain:PF00611,SMART_domains:SM00055,Superfamily_domains:SSF103657																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	102	73083739	73083739	T	A	1	0	0	0	0	1	0	0	0	5652	1681	58	4		4	FCHSD2	11	73083739	Missense_Mutation	SNP	T	C3N-02529_TP	5833531	73083739	62002883	66	31575											
ANO2	0	.	GRCh38	chr12	5575839	5575839	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagattactttacctgcaGaactgaacctcctggtcaaa	13	11	7	10	0	1	4	1	2	0	2	2	4	2	4	3	1	5	1	3	1	6	3			C3N-02529_TP	C3N-02529_NB	G	G																c.2619C>T	p.=	p.F873F	ENST00000356134	25/27	77	72	5	92	92	0	strelka-varscan-mutect	ANO2,synonymous_variant,p.=,ENST00000327087,;ANO2,synonymous_variant,p.=,ENST00000356134,NM_001278597.1,NM_001278596.1;ANO2,synonymous_variant,p.=,ENST00000546188,;	A	ENST00000356134	Transcript	synonymous_variant	2691/3717	2619/3000	873/999	F	ttC/ttT	COSM4482509,COSM4482510,COSM4482511	1		-1	ANO2	HGNC	HGNC:1183	protein_coding	YES	CCDS44807.2	ENSP00000348453	Q9NQ90		UPI00000715DF	NM_001278597.1,NM_001278596.1			25/27		hmmpanther:PTHR12308:SF20,hmmpanther:PTHR12308,Pfam_domain:PF04547											1,1,1						LOW	1	SNV	5		1,1,1	1										PASS		.	.												A	2	1	102	5575839	5575839	G	A	1	0	0	0	0	0	0	0	1	804	956	33	3		3	ANO2	12	5575839	Silent	SNP	G	C3N-02529_TP		5575839	127699470	67	31576											
ABCC9	0	.	GRCh38	chr12	21845605	21845605	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaccgaaccaattgtacctGatcagcttttccagtattgt	12	13	6	10	1	1	1	1	1	0	0	2	2	2	1	4	0	4	3	4	0	5	6	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.3094C>G	p.Gln1032Glu	p.Q1032E	ENST00000261200	24/38	356	314	42	385	385	0	strelka-varscan-mutect	ABCC9,missense_variant,p.Gln1032Glu,ENST00000261200,NM_020297.3;ABCC9,missense_variant,p.Gln1032Glu,ENST00000261201,NM_005691.3;ABCC9,missense_variant,p.Gln659Glu,ENST00000544039,;RP11-729I10.2,intron_variant,,ENST00000539874,;	C	ENST00000261200	Transcript	missense_variant,splice_region_variant	3094/8293	3094/4650	1032/1549	Q/E	Cag/Gag		1		-1	ABCC9	HGNC	HGNC:60	protein_coding	YES	CCDS8693.1	ENSP00000261200	O60706		UPI000013D13F	NM_020297.3	tolerated(0.44)		24/38		PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF173,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123																	MODERATE		SNV	5			1										PASS		rs1269392352	.												C	3	2	102	21845605	21845605	G	C	1	0	0	0	0	1	0	0	0	63	1304	45	4		4	ABCC9	12	21845605	Missense_Mutation	SNP	G	C3N-02529_TP	16269766	21845605	111429704	68	31577											
DDN	0	.	GRCh38	chr12	48998547	48998547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccgctttccttttctctTgctcccgagctcggacctcg	3	13	8	17	5	1	0	0	0	1	0	6	2	3	1	4	1	2	3	4	1	0	4	novel		C3N-02529_TP	C3N-02529_NB	T	T																c.329A>G	p.Gln110Arg	p.Q110R	ENST00000421952	2/2	113	91	22	88	88	0	strelka-varscan-mutect	DDN,missense_variant,p.Gln110Arg,ENST00000421952,NM_015086.1;PRKAG1,downstream_gene_variant,,ENST00000548065,NM_002733.4;PRKAG1,downstream_gene_variant,,ENST00000316299,NM_001206709.1;PRKAG1,downstream_gene_variant,,ENST00000547306,;PRKAG1,downstream_gene_variant,,ENST00000552212,NM_001206710.1;PRKAG1,downstream_gene_variant,,ENST00000551770,;PRKAG1,downstream_gene_variant,,ENST00000548362,;PRKAG1,downstream_gene_variant,,ENST00000551696,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000547866,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000552933,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000552284,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000547395,;RP11-386G11.3,downstream_gene_variant,,ENST00000549516,;PRKAG1,downstream_gene_variant,,ENST00000546531,;	C	ENST00000421952	Transcript	missense_variant	351/3749	329/2136	110/711	Q/R	cAa/cGa		1		-1	DDN	HGNC	HGNC:24458	protein_coding	YES	CCDS31791.2	ENSP00000390590	O94850		UPI000019821C	NM_015086.1	deleterious_low_confidence(0)		2/2		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15498,hmmpanther:PTHR16757																	MODERATE	1	SNV	1			1										PASS		rs1216085971	.												C	3	2	102	48998547	48998547	T	C	1	0	0	0	0	1	0	0	0	4137	1812	63	5		5	DDN	12	48998547	Missense_Mutation	SNP	T	C3N-02529_TP	27152942	48998547	84276762	69	31578											
FAM186A	0	.	GRCh38	chr12	50351894	50351894	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgatggggactcccagTgcctgggcctgctgaggggt	4	8	20	9	0	0	2	0	2	0	0	1	3	1	3	3	7	2	1	3	7	0	0	novel		C3N-02529_TP	C3N-02529_NB	T	T																c.4938A>T	p.=	p.A1646A	ENST00000327337	4/8	69	65	4	134	133	1	varscan-mutect	FAM186A,synonymous_variant,p.=,ENST00000543111,;FAM186A,synonymous_variant,p.=,ENST00000327337,NM_001145475.1;FAM186A,upstream_gene_variant,,ENST00000543096,;	A	ENST00000327337	Transcript	synonymous_variant	4938/7127	4938/7056	1646/2351	A	gcA/gcT		1		-1	FAM186A	HGNC	HGNC:26980	protein_coding	YES	CCDS44878.1	ENSP00000329995	A6NE01		UPI00001D7978	NM_001145475.1			4/8																			LOW	1	SNV	5			1										PASS		rs1198128421	.												A	2	1	102	50351894	50351894	T	A	1	0	0	0	0	0	0	0	1	5361	1683	59	4		4	FAM186A	12	50351894	Silent	SNP	T	C3N-02529_TP	1353347	50351894	82923415	70	31579											
SCARB1	0	.	GRCh38	chr12	124807831	124807831	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagccttcgttgggtgggtaGatggacccgttggcaaacag	9	9	15	8	2	0	1	0	0	0	1	1	2	0	2	2	4	2	4	2	4	3	4	rs763936290		C3N-02529_TP	C3N-02529_NB	G	G																c.939C>T	p.=	p.I313I	ENST00000261693	7/13	316	278	38	235	235	0	strelka-varscan-mutect	SCARB1,synonymous_variant,p.=,ENST00000339570,NM_001082959.1;SCARB1,synonymous_variant,p.=,ENST00000415380,;SCARB1,synonymous_variant,p.=,ENST00000261693,NM_005505.4;SCARB1,synonymous_variant,p.=,ENST00000544327,;SCARB1,synonymous_variant,p.=,ENST00000546215,;SCARB1,non_coding_transcript_exon_variant,,ENST00000535005,;SCARB1,non_coding_transcript_exon_variant,,ENST00000538291,;	A	ENST00000261693	Transcript	synonymous_variant	1066/2611	939/1530	313/509	I	atC/atT	rs763936290	1		-1	SCARB1	HGNC	HGNC:1664	protein_coding	YES	CCDS9259.1	ENSP00000261693	Q8WTV0	A0A024RBS4	UPI000014CE1C	NM_005505.4			7/13		Pfam_domain:PF01130,hmmpanther:PTHR11923,hmmpanther:PTHR11923:SF62																	LOW	1	SNV	1			1										PASS		rs763936290	.												A	2	1	102	124807831	124807831	G	A	1	0	0	0	0	0	0	0	1	14147	932	33	3		3	SCARB1	12	124807831	Silent	SNP	G	C3N-02529_TP	74455937	124807831	8467478	71	31580											
TMEM132C	0	.	GRCh38	chr12	128697402	128697402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagctgaggaggtgctgcGgacccccaaacaggtagggg	10	4	16	11	1	0	1	0	1	0	0	0	3	0	3	2	6	4	3	2	6	2	1			C3N-02529_TP	C3N-02529_NB	G	G																c.2108G>T	p.Arg703Leu	p.R703L	ENST00000435159	8/9	61	52	9	46	46	0	strelka-varscan-mutect	TMEM132C,missense_variant,p.Arg703Leu,ENST00000435159,NM_001136103.2;	T	ENST00000435159	Transcript	missense_variant	2108/4947	2108/3327	703/1108	R/L	cGg/cTg	COSM2227798,COSM2227799	1		1	TMEM132C	HGNC	HGNC:25436	protein_coding	YES		ENSP00000410852	Q8N3T6		UPI0001C0B37C	NM_001136103.2	deleterious(0.01)		8/9		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4,Pfam_domain:PF16070											1,1						MODERATE	1	SNV	5		1,1	1										PASS		rs1006445144	.												T	3	4	102	128697402	128697402	G	T	1	0	0	0	0	1	0	0	0	16491	1116	39	1		1	TMEM132C	12	128697402	Missense_Mutation	SNP	G	C3N-02529_TP	3889571	128697402	4577907	72	31581											
CCDC168	0	.	GRCh38	chr13	102747354	102747354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaaaattgcctcccatttTtttcctgtggtttgaagtac	8	18	6	9	0	1	1	1	1	0	0	3	1	3	1	3	1	2	2	3	1	4	7	novel		C3N-02529_TP	C3N-02529_NB	T	T																c.3343A>G	p.Lys1115Glu	p.K1115E	ENST00000322527	4/4	79	71	8	171	171	0	strelka-varscan-mutect	CCDC168,missense_variant,p.Lys1115Glu,ENST00000322527,NM_001146197.1;LINC00283,downstream_gene_variant,,ENST00000430111,;	C	ENST00000322527	Transcript	missense_variant	3481/21466	3343/21246	1115/7081	K/E	Aaa/Gaa		1		-1	CCDC168	HGNC	HGNC:26851	protein_coding	YES	CCDS73596.1	ENSP00000320232	Q8NDH2		UPI0001991308	NM_001146197.1	deleterious(0.02)		4/4																			MODERATE	1	SNV	3			1										PASS		.	.												C	3	2	102	102747354	102747354	T	C	1	0	0	0	0	1	0	0	0	2484	1850	64	5		5	CCDC168	13	102747354	Missense_Mutation	SNP	T	C3N-02529_TP		102747354	11616974	73	31582											
SPTB	0	.	GRCh38	chr14	64797779	64797779	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggggtgtgtacactttctGattgttggctctcatccggg	4	15	14	8	1	2	1	1	1	2	0	4	1	3	1	1	4	1	3	1	4	1	4	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.1132C>T	p.Gln378Ter	p.Q378*	ENST00000556626	10/36	576	532	44	537	537	0	strelka-varscan-mutect	SPTB,stop_gained,p.Gln378Ter,ENST00000556626,;SPTB,stop_gained,p.Gln378Ter,ENST00000389722,NM_001024858.2;SPTB,stop_gained,p.Gln378Ter,ENST00000389721,NM_000347.5;SPTB,stop_gained,p.Gln378Ter,ENST00000389720,;	A	ENST00000556626	Transcript	stop_gained	1275/10153	1132/6987	378/2328	Q/*	Cag/Tag		1		-1	SPTB	HGNC	HGNC:11274	protein_coding	YES	CCDS32099.1	ENSP00000451752	P11277		UPI000053030D				10/36		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF248,PIRSF_domain:PIRSF002297,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	102	64797779	64797779	G	A	1	0	0	0	0	0	1	0	0	15474	1299	45	3		3	SPTB	14	64797779	Nonsense_Mutation	SNP	G	C3N-02529_TP		64797779	42245939	74	31583											
RYR3	0	.	GRCh38	chr15	33788387	33788387	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaactcctcatcctggaCgagttcgcggtcctctgcag	7	9	11	14	3	2	1	1	0	1	1	6	3	5	2	3	2	2	3	3	2	1	1	rs55650127		C3N-02529_TP	C3N-02529_NB	C	C																c.9759C>T	p.=	p.D3253D	ENST00000634891	67/104	294	251	43	287	287	0	strelka-varscan-mutect	RYR3,synonymous_variant,p.=,ENST00000634891,NM_001036.4;RYR3,synonymous_variant,p.=,ENST00000622037,;RYR3,synonymous_variant,p.=,ENST00000415757,NM_001243996.2;RYR3,synonymous_variant,p.=,ENST00000389232,;RYR3,synonymous_variant,p.=,ENST00000634418,;RYR3,synonymous_variant,p.=,ENST00000635790,;	T	ENST00000634891	Transcript	synonymous_variant	9860/15591	9759/14613	3253/4870	D	gaC/gaT	rs55650127,COSM1243582,COSM3981455	1		1	RYR3	HGNC	HGNC:10485	protein_coding	YES	CCDS45210.1	ENSP00000489262	Q15413		UPI0000E5B01A	NM_001036.4			67/104		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs55650127	.												T	2	4	102	33788387	33788387	C	T	1	0	0	0	0	0	0	0	1	14030	535	19	1		1	RYR3	15	33788387	Silent	SNP	C	C3N-02529_TP		33788387	68202802	75	31584											
CASC5	0	.	GRCh38	chr15	40625472	40625472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatagaaactgaggaaaaGgccttgattgagacatacca	18	7	9	7	0	0	4	0	3	0	2	0	6	0	5	2	2	3	0	2	2	6	4	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.5286G>C	p.Lys1762Asn	p.K1762N	ENST00000346991	11/27	200	181	19	222	222	0	strelka-varscan-mutect	CASC5,missense_variant,p.Lys1762Asn,ENST00000346991,NM_170589.4;CASC5,missense_variant,p.Lys1736Asn,ENST00000399668,NM_144508.4;CASC5,splice_region_variant,,ENST00000527044,;CASC5,upstream_gene_variant,,ENST00000532406,;CASC5,downstream_gene_variant,,ENST00000614337,;CASC5,missense_variant,p.Lys781Asn,ENST00000526913,;CASC5,non_coding_transcript_exon_variant,,ENST00000533001,;CASC5,intron_variant,,ENST00000534204,;	C	ENST00000346991	Transcript	missense_variant	5676/9573	5286/7029	1762/2342	K/N	aaG/aaC		1		1	CASC5	HGNC	HGNC:24054	protein_coding	YES	CCDS42023.1	ENSP00000335463	Q8NG31		UPI0000E59BD3	NM_170589.4	tolerated(0.13)		11/27		hmmpanther:PTHR16520,hmmpanther:PTHR16520:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	102	40625472	40625472	G	C	1	0	0	0	0	1	0	0	0	2363	991	35	4		4	CASC5	15	40625472	Missense_Mutation	SNP	G	C3N-02529_TP	6837085	40625472	61365717	76	31585											
MAPKBP1	0	.	GRCh38	chr15	41819352	41819352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttccagcactgcccgtcCttgccaagagtaccaagaag	12	7	8	14	1	0	2	0	0	0	2	2	2	2	2	5	0	5	2	5	0	5	3	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.2416C>T	p.Leu806Phe	p.L806F	ENST00000456763	22/32	130	121	9	142	141	1	strelka-varscan-mutect	MAPKBP1,missense_variant,p.Leu800Phe,ENST00000457542,NM_014994.2;MAPKBP1,missense_variant,p.Leu806Phe,ENST00000456763,NM_001128608.1;MAPKBP1,missense_variant,p.Leu800Phe,ENST00000514566,NM_001265611.1;MAPKBP1,3_prime_UTR_variant,,ENST00000512970,;MAPKBP1,3_prime_UTR_variant,,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;MAPKBP1,downstream_gene_variant,,ENST00000502292,;MAPKBP1,upstream_gene_variant,,ENST00000508050,;MAPKBP1,upstream_gene_variant,,ENST00000512433,;MAPKBP1,upstream_gene_variant,,ENST00000502695,;MAPKBP1,upstream_gene_variant,,ENST00000506301,;MAPKBP1,downstream_gene_variant,,ENST00000503526,;	T	ENST00000456763	Transcript	missense_variant	2612/7158	2416/4545	806/1514	L/F	Ctt/Ttt		1		1	MAPKBP1	HGNC	HGNC:29536	protein_coding	YES	CCDS45239.1	ENSP00000393099	O60336		UPI00002375CB	NM_001128608.1	tolerated(0.51)		22/32		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF432																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	102	41819352	41819352	C	T	1	0	0	0	0	1	0	0	0	9216	681	24	3		3	MAPKBP1	15	41819352	Missense_Mutation	SNP	C	C3N-02529_TP	1193880	41819352	60171837	77	31586											
NEO1	0	.	GRCh38	chr15	73178314	73178314	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttcttcagaaggaacAtaatcttcaagttttgggtc	10	17	7	7	0	5	1	2	0	3	1	6	2	5	2	0	2	1	1	0	2	4	8	novel		C3N-02529_TP	C3N-02529_NB	A	A																c.1178A>G	p.His393Arg	p.H393R	ENST00000339362	8/30	157	138	19	180	180	0	strelka-varscan-mutect	NEO1,missense_variant,p.His393Arg,ENST00000339362,;NEO1,missense_variant,p.His393Arg,ENST00000261908,NM_002499.3;NEO1,missense_variant,p.His69Arg,ENST00000560328,;NEO1,missense_variant,p.His393Arg,ENST00000558964,NM_001172624.1;NEO1,missense_variant,p.His393Arg,ENST00000560262,NM_001172623.1;	G	ENST00000339362	Transcript	missense_variant	1625/7342	1178/4386	393/1461	H/R	cAt/cGt		1		1	NEO1	HGNC	HGNC:7754	protein_coding	YES	CCDS10247.1	ENSP00000341198	Q92859		UPI000013D221		tolerated(0.18)		8/30		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF55,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	102	73178314	73178314	A	G	1	0	0	0	0	1	0	0	0	10370	217	8	5		5	NEO1	15	73178314	Missense_Mutation	SNP	A	C3N-02529_TP	31358962	73178314	28812875	78	31587											
FAM219B	0	.	GRCh38	chr15	74902750	74902750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatccaggtgatacccatCctgaagcagctgccggctca	9	8	9	15	1	2	2	2	2	0	0	4	2	4	2	4	2	4	3	4	2	2	1	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.466G>T	p.Asp156Tyr	p.D156Y	ENST00000357635	5/5	93	77	16	115	115	0	strelka-varscan-mutect	FAM219B,missense_variant,p.Asp156Tyr,ENST00000357635,NM_001321922.1,NM_020447.3;FAM219B,missense_variant,p.Asp156Tyr,ENST00000563119,NM_001321920.1,NM_001321923.1;FAM219B,missense_variant,p.Asp70Tyr,ENST00000565772,;FAM219B,missense_variant,p.Asp155Tyr,ENST00000562698,;MPI,downstream_gene_variant,,ENST00000352410,NM_002435.2;MPI,downstream_gene_variant,,ENST00000566377,NM_001289155.1;MPI,downstream_gene_variant,,ENST00000563786,;MPI,downstream_gene_variant,,ENST00000323744,NM_001289157.1;MPI,downstream_gene_variant,,ENST00000535694,NM_001289156.1;MPI,downstream_gene_variant,,ENST00000567177,;FAM219B,non_coding_transcript_exon_variant,,ENST00000563706,;MPI,downstream_gene_variant,,ENST00000564692,;FAM219B,upstream_gene_variant,,ENST00000564723,;FAM219B,missense_variant,p.Asp154Tyr,ENST00000563671,;FAM219B,3_prime_UTR_variant,,ENST00000569524,;FAM219B,3_prime_UTR_variant,,ENST00000563069,;FAM219B,3_prime_UTR_variant,,ENST00000570143,;FAM219B,3_prime_UTR_variant,,ENST00000563877,;FAM219B,3_prime_UTR_variant,,ENST00000566194,;FAM219B,3_prime_UTR_variant,,ENST00000563413,;FAM219B,3_prime_UTR_variant,,ENST00000566132,;FAM219B,3_prime_UTR_variant,,ENST00000564019,;FAM219B,3_prime_UTR_variant,,ENST00000569761,;FAM219B,3_prime_UTR_variant,,ENST00000567388,;FAM219B,non_coding_transcript_exon_variant,,ENST00000566894,;FAM219B,non_coding_transcript_exon_variant,,ENST00000564857,;MPI,downstream_gene_variant,,ENST00000566556,;	A	ENST00000357635	Transcript	missense_variant	787/3550	466/597	156/198	D/Y	Gat/Tat		1		-1	FAM219B	HGNC	HGNC:24695	protein_coding	YES	CCDS32295.1	ENSP00000350260	Q5XKK7		UPI0000073A99	NM_001321922.1,NM_020447.3	deleterious(0)		5/5		Pfam_domain:PF15260,hmmpanther:PTHR31281,hmmpanther:PTHR31281:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	102	74902750	74902750	C	A	1	0	0	0	0	1	0	0	0	5410	855	30	2		2	FAM219B	15	74902750	Missense_Mutation	SNP	C	C3N-02529_TP	1724436	74902750	27088439	79	31588											
RHOT2	0	.	GRCh38	chr16	670300	670300	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcggtcggggagctcCatggaggccgtgctccccat	5	7	15	14	3	0	0	0	0	0	0	3	3	2	2	5	5	3	2	5	5	0	0	rs774343527		C3N-02529_TP	C3N-02529_NB	C	C																c.381C>A	p.=	p.S127S	ENST00000315082	7/19	286	221	65	205	205	0	strelka-varscan-mutect	RHOT2,synonymous_variant,p.=,ENST00000315082,NM_138769.2;RHOT2,synonymous_variant,p.=,ENST00000563134,;RHOT2,synonymous_variant,p.=,ENST00000561929,;WDR90,downstream_gene_variant,,ENST00000549091,;WDR90,downstream_gene_variant,,ENST00000293879,NM_145294.4;WDR90,downstream_gene_variant,,ENST00000547944,;WDR90,downstream_gene_variant,,ENST00000315764,;WDR90,downstream_gene_variant,,ENST00000551100,;RHOT2,upstream_gene_variant,,ENST00000569197,;WDR90,downstream_gene_variant,,ENST00000546896,;RHOT2,non_coding_transcript_exon_variant,,ENST00000569943,;WDR90,downstream_gene_variant,,ENST00000547543,;RHOT2,missense_variant,p.His122Asn,ENST00000562333,;RHOT2,missense_variant,p.His122Asn,ENST00000561983,;RHOT2,3_prime_UTR_variant,,ENST00000563637,;RHOT2,3_prime_UTR_variant,,ENST00000570280,;RHOT2,3_prime_UTR_variant,,ENST00000566214,;RHOT2,non_coding_transcript_exon_variant,,ENST00000602564,;RHOT2,non_coding_transcript_exon_variant,,ENST00000568636,;RHOT2,non_coding_transcript_exon_variant,,ENST00000569675,;RHOT2,non_coding_transcript_exon_variant,,ENST00000568950,;RHOT2,non_coding_transcript_exon_variant,,ENST00000567017,;RHOT2,non_coding_transcript_exon_variant,,ENST00000563776,;RHOT2,non_coding_transcript_exon_variant,,ENST00000566965,;RHOT2,non_coding_transcript_exon_variant,,ENST00000570092,;RHOT2,non_coding_transcript_exon_variant,,ENST00000562708,;RHOT2,non_coding_transcript_exon_variant,,ENST00000562598,;WDR90,downstream_gene_variant,,ENST00000547407,;WDR90,downstream_gene_variant,,ENST00000552728,;WDR90,downstream_gene_variant,,ENST00000549024,;WDR90,downstream_gene_variant,,ENST00000553080,;RHOT2,upstream_gene_variant,,ENST00000569358,;RHOT2,upstream_gene_variant,,ENST00000565004,;RHOT2,upstream_gene_variant,,ENST00000564659,;RHOT2,upstream_gene_variant,,ENST00000561711,;RHOT2,downstream_gene_variant,,ENST00000569706,;RHOT2,upstream_gene_variant,,ENST00000567589,;RHOT2,upstream_gene_variant,,ENST00000562957,;WDR90,downstream_gene_variant,,ENST00000548448,;	A	ENST00000315082	Transcript	synonymous_variant	495/2539	381/1857	127/618	S	tcC/tcA	rs774343527	1		1	RHOT2	HGNC	HGNC:21169	protein_coding	YES	CCDS10417.1	ENSP00000321971	Q8IXI1		UPI000007310B	NM_138769.2			7/19		Gene3D:3.40.50.300,Pfam_domain:PF00071,PIRSF_domain:PIRSF037488,PROSITE_profiles:PS51423,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF70,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540																	LOW	1	SNV	1			1										PASS		rs774343527	.												A	2	1	102	670300	670300	C	A	1	0	0	0	0	0	0	0	1	13517	581	21	2		2	RHOT2	16	670300	Silent	SNP	C	C3N-02529_TP		670300	89668045	80	31589											
VASN	0	.	GRCh38	chr16	4381898	4381898	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgctggccggctgctcctgGagcttgactacgccgacttt	5	10	12	14	4	0	1	0	1	0	0	1	3	1	2	3	3	3	4	3	3	1	3	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.1021G>T	p.Glu341Ter	p.E341*	ENST00000304735	2/2	368	335	33	286	285	1	strelka-varscan-mutect	VASN,stop_gained,p.Glu341Ter,ENST00000304735,NM_138440.2;CORO7,intron_variant,,ENST00000251166,NM_024535.4;CORO7,intron_variant,,ENST00000537233,NM_001201472.1;CORO7-PAM16,intron_variant,,ENST00000572467,NM_001201479.1;CORO7,intron_variant,,ENST00000574025,NM_001201473.1;CORO7,intron_variant,,ENST00000572549,;CORO7,intron_variant,,ENST00000572044,;CORO7-PAM16,intron_variant,,ENST00000575334,;CORO7,intron_variant,,ENST00000571227,;CORO7,intron_variant,,ENST00000575714,;CORO7,intron_variant,,ENST00000571756,;CORO7,intron_variant,,ENST00000574311,;CORO7,intron_variant,,ENST00000576437,;	T	ENST00000304735	Transcript	stop_gained	1176/2806	1021/2022	341/673	E/*	Gag/Tag		1		1	VASN	HGNC	HGNC:18517	protein_coding	YES	CCDS10514.1	ENSP00000306864	Q6EMK4		UPI000003E779	NM_138440.2			2/2		hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF367,Gene3D:3.80.10.10,SMART_domains:SM00082																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	102	4381898	4381898	G	T	1	0	0	0	0	0	1	0	0	17672	1175	41	2		2	VASN	16	4381898	Nonsense_Mutation	SNP	G	C3N-02529_TP	3711598	4381898	85956447	81	31590											
KIAA0556	0	.	GRCh38	chr16	27628733	27628733	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggagcaaggtttctctgtCtatgtcaacggtgccaattc	8	14	10	9	1	3	0	1	0	2	0	5	1	3	1	1	3	3	2	1	3	4	4	rs762842250		C3N-02529_TP	C3N-02529_NB	C	C																c.213C>T	p.=	p.V71V	ENST00000261588	4/28	348	305	43	326	326	0	strelka-varscan-mutect	KIAA0556,synonymous_variant,p.=,ENST00000261588,NM_015202.2;KIAA0556,synonymous_variant,p.=,ENST00000568258,;KIAA0556,synonymous_variant,p.=,ENST00000618117,;KIAA0556,upstream_gene_variant,,ENST00000567894,;KIAA0556,synonymous_variant,p.=,ENST00000565672,;KIAA0556,non_coding_transcript_exon_variant,,ENST00000564749,;	T	ENST00000261588	Transcript	synonymous_variant	232/6616	213/4857	71/1618	V	gtC/gtT	rs762842250	1		1	KIAA0556	HGNC	HGNC:29068	protein_coding	YES	CCDS32415.1	ENSP00000261588	O60303		UPI000045693C	NM_015202.2			4/28		hmmpanther:PTHR21534:SF0,hmmpanther:PTHR21534																	LOW	1	SNV	1			1										PASS		rs762842250	.												T	2	4	102	27628733	27628733	C	T	1	0	0	0	0	0	0	0	1	8088	900	32	3		3	KIAA0556	16	27628733	Silent	SNP	C	C3N-02529_TP	23246835	27628733	62709612	82	31591											
ZFHX3	0	.	GRCh38	chr16	72960105	72960105	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgagggataccgcacccaTtgtccttccccgagacgacg	8	7	11	15	4	0	2	0	1	0	1	2	5	2	3	5	1	1	2	5	1	1	3	novel		C3N-02529_TP	C3N-02529_NB	T	T																c.41A>G	p.Asn14Ser	p.N14S	ENST00000268489	2/10	53	49	4	41	41	0	strelka-mutect	ZFHX3,missense_variant,p.Asn14Ser,ENST00000268489,NM_006885.3;ZFHX3,intron_variant,,ENST00000397992,NM_001164766.1;	C	ENST00000268489	Transcript	missense_variant	714/16064	41/11112	14/3703	N/S	aAt/aGt		1		-1	ZFHX3	HGNC	HGNC:777	protein_coding	YES	CCDS10908.1	ENSP00000268489	Q15911		UPI00001AE937	NM_006885.3	deleterious_low_confidence(0)		2/10																			MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	102	72960105	72960105	T	C	1	0	0	0	0	1	0	0	0	18212	1493	52	5		5	ZFHX3	16	72960105	Missense_Mutation	SNP	T	C3N-02529_TP	45331372	72960105	17378240	83	31592											
TP53	0	.	GRCh38	chr17	7674935	7674935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatactccacacgcaaatttCcttccactcggataagatgc	13	10	5	13	2	0	1	0	0	0	1	4	2	3	2	3	1	2	1	3	1	4	4			C3N-02529_TP	C3N-02529_NB	C	C																c.596G>T	p.Gly199Val	p.G199V	ENST00000269305	6/11	452	346	106	503	503	0	strelka-varscan-mutect	TP53,missense_variant,p.Gly199Val,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Gly199Val,ENST00000420246,;TP53,missense_variant,p.Gly160Val,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Gly160Val,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Gly199Val,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Gly160Val,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Gly199Val,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Gly160Val,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Gly199Val,ENST00000445888,;TP53,missense_variant,p.Gly160Val,ENST00000619485,;TP53,missense_variant,p.Gly67Val,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Gly40Val,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Gly67Val,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Gly40Val,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Gly67Val,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Gly40Val,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Gly199Val,ENST00000359597,;TP53,missense_variant,p.Gly188Val,ENST00000615910,;TP53,missense_variant,p.Gly199Val,ENST00000413465,;TP53,missense_variant,p.Gly67Val,ENST00000509690,;TP53,missense_variant,p.Gly106Val,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,missense_variant,p.Gly160Val,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	786/2579	596/1182	199/393	G/V	gGa/gTa	TP53_g.12665G>T,TP53_g.12665G>C,TP53_g.12665G>A,TP53_g.12665del,COSM1610848,COSM1610849,COSM1610850,COSM1610851,COSM255787,COSM255788,COSM255789,COSM255790,COSM3675524,COSM3675525,COSM43989,COSM44140,COSM45199,COSM45387,COSM4776916,COSM4776917,COSM4776918,COSM4776919,COSM4776920,COSM4776921	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		6/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417											0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		.	.												A	3	1	102	7674935	7674935	C	A	1	0	0	0	0	1	0	0	0	16859	855	30	2		2	TP53	17	7674935	Missense_Mutation	SNP	C	C3N-02529_TP		7674935	75582506	84	31593											
SOCS7	0	.	GRCh38	chr17	38364853	38364853	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagaagcctcagcctcCtaggtatagtttcttcccct	9	11	8	13	1	2	2	1	0	1	2	4	3	4	2	5	1	2	2	5	1	5	5	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.955C>G	p.Leu319Val	p.L319V	ENST00000612932	3/10	217	190	27	140	140	0	strelka-varscan-mutect	SOCS7,missense_variant,p.Leu319Val,ENST00000612932,NM_014598.3;SOCS7,missense_variant,p.Leu319Val,ENST00000613678,;SOCS7,intron_variant,,ENST00000617765,;SOCS7,non_coding_transcript_exon_variant,,ENST00000617360,;	G	ENST00000612932	Transcript	missense_variant	955/7857	955/1746	319/581	L/V	Cta/Gta		1		1	SOCS7	HGNC	HGNC:29846	protein_coding	YES	CCDS32637.1	ENSP00000482229	O14512		UPI00001AFDEB	NM_014598.3	deleterious_low_confidence(0.02)		3/10		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF82,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	102	38364853	38364853	C	G	1	0	0	0	0	1	0	0	0	15240	695	24	4		4	SOCS7	17	38364853	Missense_Mutation	SNP	C	C3N-02529_TP	30689918	38364853	44892588	85	31594											
MED1	0	.	GRCh38	chr17	39405303	39405314	+	Splice_Site	DEL	TTTGATCTGGGA	TTTGATCTGGGA	-																															cagatcctaactcgggattcTttgatctgggatgaagacag																								novel		C3N-02529_TP	C3N-02529_NB	TTTGATCTGGGA	TTTGATCTGGGA																c.1641-6_1646delTCCCAGATCAAA		p.X547_splice	ENST00000394287	18/18	190	124	66	159	159	0	sindel-varindel	MED1,splice_acceptor_variant,,ENST00000394287,;FBXL20,upstream_gene_variant,,ENST00000264658,NM_032875.2;MED1,downstream_gene_variant,,ENST00000300651,NM_004774.3;FBXL20,upstream_gene_variant,,ENST00000394294,NM_001184906.1;FBXL20,upstream_gene_variant,,ENST00000583610,;FBXL20,upstream_gene_variant,,ENST00000577399,;CTB-131K11.1,intron_variant,,ENST00000582842,;MED1,downstream_gene_variant,,ENST00000577831,;	-	ENST00000394287	Transcript	splice_acceptor_variant,coding_sequence_variant,intron_variant	?-1852/2870	?-1646/1671	?-549/556				1		-1	MED1	HGNC	HGNC:9234	protein_coding			ENSP00000377828	Q15648		UPI00002132C2				18/18	17/17																		HIGH		deletion	1			1										PASS		.	.												-	8	5	102	39405303	39405303	TTTGATCTGGGA	-	1	0	1	0	1	0	0	1	0	9364	1623	56	0		0	MED1	17	39405303	Splice_Site	DEL	TTTGATCTGGGA	C3N-02529_TP	1040450	39405303	43852138	86	31595											
KRT28	0	.	GRCh38	chr17	40797234	40797234	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccccggggccgcgttcatCtccacgttcacgttgccccc	4	8	9	20	5	3	0	2	0	1	0	4	0	3	0	6	2	1	3	6	2	0	3	rs745779688		C3N-02529_TP	C3N-02529_NB	C	C																c.738G>A	p.=	p.E246E	ENST00000306658	4/8	307	278	29	176	176	0	strelka-varscan-mutect	KRT28,synonymous_variant,p.=,ENST00000306658,NM_181535.3;	T	ENST00000306658	Transcript	synonymous_variant	804/1685	738/1395	246/464	E	gaG/gaA	rs745779688	1		-1	KRT28	HGNC	HGNC:30842	protein_coding	YES	CCDS11376.1	ENSP00000305263	Q7Z3Y7		UPI0000246D70	NM_181535.3			4/8		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF215,Pfam_domain:PF00038,SMART_domains:SM01391,Prints_domain:PR01248																	LOW	1	SNV	1			1										PASS		rs745779688	.												T	2	4	102	40797234	40797234	C	T	1	0	0	0	0	0	0	0	1	8347	912	32	3		3	KRT28	17	40797234	Silent	SNP	C	C3N-02529_TP	1391931	40797234	42460207	87	31596											
NPEPPS	0	.	GRCh38	chr17	47531375	47531375	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctccgcctcctcccctcctCcttctcgtcttcagccgctc	1	12	4	24	3	3	0	1	0	2	0	10	0	8	0	9	0	1	1	9	0	0	2	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.75C>T	p.=	p.L25L	ENST00000322157	1/23	144	125	19	144	143	1	varscan-mutect	NPEPPS,synonymous_variant,p.=,ENST00000322157,NM_006310.3;NPEPPS,intron_variant,,ENST00000530173,;NPEPPS,intron_variant,,ENST00000525007,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000533573,;NPEPPS,intron_variant,,ENST00000525037,;NPEPPS,intron_variant,,ENST00000528751,;NPEPPS,synonymous_variant,p.=,ENST00000527298,;NPEPPS,intron_variant,,ENST00000532729,;NPEPPS,intron_variant,,ENST00000526247,;NPEPPS,upstream_gene_variant,,ENST00000534691,;	T	ENST00000322157	Transcript	synonymous_variant	312/4353	75/2760	25/919	L	ctC/ctT		1		1	NPEPPS	HGNC	HGNC:7900	protein_coding	YES	CCDS45721.1	ENSP00000320324	P55786		UPI0000140D51	NM_006310.3			1/23		Low_complexity_(Seg):seg,hmmpanther:PTHR11533:SF187,hmmpanther:PTHR11533																	LOW	1	SNV	1			1										PASS		rs1380876042	.												T	2	4	102	47531375	47531375	C	T	1	0	0	0	0	0	0	0	1	10623	842	30	3		3	NPEPPS	17	47531375	Silent	SNP	C	C3N-02529_TP	6734141	47531375	35726066	88	31597											
SEPT4	0	.	GRCh38	chr17	58521829	58521829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgatgcagggccttcatGaattcaacatccaatggccg	10	9	10	12	2	2	2	2	2	0	0	3	2	3	2	3	2	2	2	3	2	3	2	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.867C>A	p.Phe289Leu	p.F289L	ENST00000457347	8/13	353	319	34	309	308	1	strelka-varscan-mutect	SEPT4,missense_variant,p.Phe289Leu,ENST00000457347,NM_001256782.1;SEPT4,missense_variant,p.Phe274Leu,ENST00000317268,NM_004574.4;SEPT4,missense_variant,p.Phe127Leu,ENST00000583114,NM_001256822.1;SEPT4,missense_variant,p.Phe266Leu,ENST00000412945,NM_001198713.1;SEPT4,missense_variant,p.Phe255Leu,ENST00000393086,;SEPT4,missense_variant,p.Phe255Leu,ENST00000317256,NM_080416.3;SEPT4,missense_variant,p.Phe175Leu,ENST00000580844,;SEPT4,missense_variant,p.Phe175Leu,ENST00000579371,;SEPT4,missense_variant,p.Phe180Leu,ENST00000577729,;SEPT4,3_prime_UTR_variant,,ENST00000426861,NM_080415.3;SEPT4,3_prime_UTR_variant,,ENST00000580809,;MTMR4,upstream_gene_variant,,ENST00000323456,NM_004687.4;MTMR4,upstream_gene_variant,,ENST00000579925,;SEPT4,downstream_gene_variant,,ENST00000583291,;SEPT4,downstream_gene_variant,,ENST00000581607,;MTMR4,upstream_gene_variant,,ENST00000579921,;SEPT4-AS1,intron_variant,,ENST00000580589,;SEPT4-AS1,upstream_gene_variant,,ENST00000580769,;SEPT4-AS1,upstream_gene_variant,,ENST00000578022,;SEPT4,downstream_gene_variant,,ENST00000580791,;SEPT4,downstream_gene_variant,,ENST00000584528,;SEPT4,downstream_gene_variant,,ENST00000580740,;SEPT4,downstream_gene_variant,,ENST00000581921,;SEPT4,non_coding_transcript_exon_variant,,ENST00000580796,;SEPT4,non_coding_transcript_exon_variant,,ENST00000582270,;SEPT4,non_coding_transcript_exon_variant,,ENST00000583273,;SEPT4,non_coding_transcript_exon_variant,,ENST00000577440,;SEPT4,non_coding_transcript_exon_variant,,ENST00000584488,;SEPT4,downstream_gene_variant,,ENST00000585170,;SEPT4,downstream_gene_variant,,ENST00000584789,;SEPT4,downstream_gene_variant,,ENST00000581615,;SEPT4,downstream_gene_variant,,ENST00000582248,;MTMR4,upstream_gene_variant,,ENST00000582663,;SEPT4,downstream_gene_variant,,ENST00000578747,;SEPT4,downstream_gene_variant,,ENST00000578131,;	T	ENST00000457347	Transcript	missense_variant	1012/1795	867/1482	289/493	F/L	ttC/ttA		1		-1	SEPT4	HGNC	HGNC:9165	protein_coding	YES	CCDS58582.1	ENSP00000402000	O43236		UPI00017A809C	NM_001256782.1	deleterious(0.03)		8/13		Gene3D:3.40.50.300,Pfam_domain:PF00735,PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF71,Superfamily_domains:SSF52540																	MODERATE		SNV	2			1										PASS		.	.												T	3	4	102	58521829	58521829	G	T	1	0	0	0	0	1	0	0	0	14342	1281	45	2		2	SEPT4	17	58521829	Missense_Mutation	SNP	G	C3N-02529_TP	10990454	58521829	24735612	89	31598											
COG1	0	.	GRCh38	chr17	73201526	73201526	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcagatgcggggaccgtgCaggagatgctgcggactcag	9	5	17	10	4	1	2	1	0	0	2	1	5	1	4	1	4	4	3	1	4	0	0	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.1699C>T	p.Gln567Ter	p.Q567*	ENST00000299886	7/14	437	413	24	449	447	2	strelka-varscan-mutect	COG1,stop_gained,p.Gln567Ter,ENST00000438720,;COG1,stop_gained,p.Gln567Ter,ENST00000618996,;COG1,stop_gained,p.Gln567Ter,ENST00000299886,NM_018714.2;COG1,upstream_gene_variant,,ENST00000582672,;COG1,upstream_gene_variant,,ENST00000582512,;RP11-143K11.7,downstream_gene_variant,,ENST00000613523,;RP11-143K11.5,downstream_gene_variant,,ENST00000580671,;COG1,downstream_gene_variant,,ENST00000582587,;COG1,upstream_gene_variant,,ENST00000577238,;COG1,upstream_gene_variant,,ENST00000580271,;COG1,upstream_gene_variant,,ENST00000577844,;	T	ENST00000299886	Transcript	stop_gained	1779/3079	1699/2943	567/980	Q/*	Cag/Tag		1		1	COG1	HGNC	HGNC:6545	protein_coding	YES	CCDS11692.1	ENSP00000299886	Q8WTW3		UPI0000127E34	NM_018714.2			7/14		hmmpanther:PTHR31658,hmmpanther:PTHR31658:SF0																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	102	73201526	73201526	C	T	1	0	0	0	0	0	1	0	0	3445	711	25	3		3	COG1	17	73201526	Nonsense_Mutation	SNP	C	C3N-02529_TP	14679697	73201526	10055915	90	31599											
FAAP100	0	.	GRCh38	chr17	81551149	81551149	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatcggggtccacagggatCacgggggaaggctggtcacc	8	5	17	11	2	2	0	2	0	0	0	4	2	3	2	2	7	0	2	2	7	1	0	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.345G>A	p.=	p.V115V	ENST00000327787	3/9	113	106	7	79	79	0	strelka-varscan-mutect	FAAP100,synonymous_variant,p.=,ENST00000327787,NM_025161.5;FAAP100,synonymous_variant,p.=,ENST00000536161,;FAAP100,5_prime_UTR_variant,,ENST00000541246,;FAAP100,5_prime_UTR_variant,,ENST00000544302,;FAAP100,upstream_gene_variant,,ENST00000425898,;FAAP100,3_prime_UTR_variant,,ENST00000443656,;FAAP100,upstream_gene_variant,,ENST00000545865,;	T	ENST00000327787	Transcript	synonymous_variant	392/3627	345/2646	115/881	V	gtG/gtA		1		-1	FAAP100	HGNC	HGNC:26171	protein_coding	YES	CCDS32765.2	ENSP00000333283	Q0VG06		UPI0001C53D21	NM_025161.5			3/9		hmmpanther:PTHR14890,hmmpanther:PTHR14890:SF1																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	102	81551149	81551149	C	T	1	0	0	0	0	0	0	0	1	5224	813	29	3		3	FAAP100	17	81551149	Silent	SNP	C	C3N-02529_TP	8349623	81551149	1706292	91	31600											
CCDC57	0	.	GRCh38	chr17	82157845	82157845	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgagatgcttccccagcTcagccacctgcttccgcagc	6	9	8	18	1	1	1	1	1	0	1	4	2	4	1	6	0	5	4	6	0	0	2	novel		C3N-02529_TP	C3N-02529_NB	T	T																c.2144A>T	p.Glu715Val	p.E715V	ENST00000389641	14/18	323	303	20	244	243	1	strelka-varscan-mutect	CCDC57,missense_variant,p.Glu715Val,ENST00000389641,;CCDC57,missense_variant,p.Glu715Val,ENST00000392347,NM_198082.2;CCDC57,missense_variant,p.Glu715Val,ENST00000392343,;CCDC57,missense_variant,p.Glu99Val,ENST00000419322,;RP11-1376P16.2,downstream_gene_variant,,ENST00000579979,;RP11-1376P16.1,upstream_gene_variant,,ENST00000582774,;CCDC57,non_coding_transcript_exon_variant,,ENST00000327026,;CCDC57,upstream_gene_variant,,ENST00000475635,;	A	ENST00000389641	Transcript	missense_variant	2181/3000	2144/2751	715/916	E/V	gAg/gTg		1		-1	CCDC57	HGNC	HGNC:27564	protein_coding	YES		ENSP00000374292	Q2TAC2		UPI000155D557		deleterious(0)		14/18		hmmpanther:PTHR23161,hmmpanther:PTHR23161:SF1																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	102	82157845	82157845	T	A	1	0	0	0	0	1	0	0	0	2529	1551	54	4		4	CCDC57	17	82157845	Missense_Mutation	SNP	T	C3N-02529_TP	606696	82157845	1099596	92	31601											
DCC	0	.	GRCh38	chr18	53467979	53467979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccccgggccaagctcatGattcccatggatgcccagtc	7	7	10	17	1	1	1	1	1	0	0	3	2	2	2	6	2	2	1	6	2	1	1			C3N-02529_TP	C3N-02529_NB	G	G																c.3705G>T	p.Met1235Ile	p.M1235I	ENST00000442544	25/29	334	274	60	315	315	0	strelka-varscan-mutect	DCC,missense_variant,p.Met1235Ile,ENST00000442544,NM_005215.3;DCC,missense_variant,p.Met1212Ile,ENST00000412726,;DCC,missense_variant,p.Met870Ile,ENST00000581580,;	T	ENST00000442544	Transcript	missense_variant	4321/10206	3705/4344	1235/1447	M/I	atG/atT	COSM1711373	1		1	DCC	HGNC	HGNC:2701	protein_coding	YES	CCDS11952.1	ENSP00000389140	P43146		UPI00001AEDC6	NM_005215.3	deleterious(0.01)		25/29		Pfam_domain:PF06583,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF68											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	102	53467979	53467979	G	T	1	0	0	0	0	1	0	0	0	4084	1290	45	2		2	DCC	18	53467979	Missense_Mutation	SNP	G	C3N-02529_TP		53467979	26905306	93	31602											
ALPK2	0	.	GRCh38	chr18	58536262	58536262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttatggctttctctgctatCagcaagggctgactcagcat	8	14	9	10	0	3	1	2	1	1	0	4	1	3	1	0	2	3	5	0	2	3	4			C3N-02529_TP	C3N-02529_NB	C	C																c.3925G>A	p.Asp1309Asn	p.D1309N	ENST00000361673	5/13	159	127	32	186	186	0	strelka-varscan-mutect	ALPK2,missense_variant,p.Asp1309Asn,ENST00000361673,NM_052947.3;RP11-1151B14.4,non_coding_transcript_exon_variant,,ENST00000591360,;ALPK2,downstream_gene_variant,,ENST00000587842,;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;	T	ENST00000361673	Transcript	missense_variant	4139/7303	3925/6513	1309/2170	D/N	Gat/Aat	COSM1660504,COSM1660505	1		-1	ALPK2	HGNC	HGNC:20565	protein_coding	YES	CCDS11966.2	ENSP00000354991	Q86TB3		UPI000022A768	NM_052947.3	tolerated(1)		5/13		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs966215600	.												T	3	4	102	58536262	58536262	C	T	1	0	0	0	0	1	0	0	0	645	826	29	3		3	ALPK2	18	58536262	Missense_Mutation	SNP	C	C3N-02529_TP	5068283	58536262	21837023	94	31603											
C2CD4C	0	.	GRCh38	chr19	407451	407451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgcacgctgccccgagggCccacgtggaccgtgtgctcc	4	5	14	18	5	0	0	0	0	0	0	1	2	1	1	6	2	2	3	6	2	0	0	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.911G>A	p.Gly304Asp	p.G304D	ENST00000332235	2/2	47	42	5	71	71	0	strelka-varscan-mutect	C2CD4C,missense_variant,p.Gly304Asp,ENST00000332235,NM_001136263.1;	T	ENST00000332235	Transcript	missense_variant	1116/3129	911/1266	304/421	G/D	gGc/gAc		1		-1	C2CD4C	HGNC	HGNC:29417	protein_coding	YES	CCDS45890.1	ENSP00000328677	Q8TF44		UPI00001C2016	NM_001136263.1	tolerated(0.17)		2/2		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF116,Superfamily_domains:SSF49562																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	102	407451	407451	C	T	1	0	0	0	0	1	0	0	0	2028	739	26	3		3	C2CD4C	19	407451	Missense_Mutation	SNP	C	C3N-02529_TP		407451	58210165	95	31604											
ZNF675	0	.	GRCh38	chr19	23654213	23654213	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatattcagtaaggtttgaGaattggttaaaagttctgtc	12	17	9	3	0	2	1	1	1	1	1	3	2	2	1	0	2	0	4	0	2	6	8	rs146787061		C3N-02529_TP	C3N-02529_NB	G	G																c.720C>G	p.Phe240Leu	p.F240L	ENST00000359788	4/4	176	158	18	277	277	0	strelka-varscan-mutect	ZNF675,missense_variant,p.Phe240Leu,ENST00000359788,NM_138330.2;ZNF675,intron_variant,,ENST00000601935,;ZNF675,intron_variant,,ENST00000596211,;ZNF675,intron_variant,,ENST00000600313,;ZNF675,downstream_gene_variant,,ENST00000599535,;ZNF675,downstream_gene_variant,,ENST00000601010,;ZNF675,non_coding_transcript_exon_variant,,ENST00000600299,;ZNF675,downstream_gene_variant,,ENST00000597074,;	C	ENST00000359788	Transcript	missense_variant	889/2301	720/1707	240/568	F/L	ttC/ttG	rs146787061	1		-1	ZNF675	HGNC	HGNC:30768	protein_coding	YES	CCDS32981.1	ENSP00000352836	Q8TD23		UPI0000203902	NM_138330.2	tolerated(0.39)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1										PASS		rs146787061	.												C	3	2	102	23654213	23654213	G	C	1	0	0	0	0	1	0	0	0	18655	933	33	4		4	ZNF675	19	23654213	Missense_Mutation	SNP	G	C3N-02529_TP	23246762	23654213	34963403	96	31605											
LYPD5	0	.	GRCh38	chr19	43798588	43798588	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcggcgccgctgagcgtCggcgggtcgggtgctggcaa	4	6	18	13	7	0	1	0	1	0	0	3	1	0	1	1	5	2	3	1	5	1	0	rs371523113		C3N-02529_TP	C3N-02529_NB	C	C																c.384G>T	p.=	p.P128P	ENST00000377950	4/5	172	149	23	170	170	0	strelka-varscan-mutect	LYPD5,synonymous_variant,p.=,ENST00000377950,NM_001031749.2;LYPD5,synonymous_variant,p.=,ENST00000414615,NM_182573.2;LYPD5,synonymous_variant,p.=,ENST00000594013,NM_001288763.1;LYPD5,synonymous_variant,p.=,ENST00000602179,;LYPD5,synonymous_variant,p.=,ENST00000594049,;AC115522.3,upstream_gene_variant,,ENST00000595680,;LYPD5,non_coding_transcript_exon_variant,,ENST00000595666,;LYPD5,non_coding_transcript_exon_variant,,ENST00000601224,;	A	ENST00000377950	Transcript	synonymous_variant	465/2499	384/756	128/251	P	ccG/ccT	rs371523113,COSM1304713,COSM1304714	1		-1	LYPD5	HGNC	HGNC:26397	protein_coding	YES	CCDS46096.1	ENSP00000367185	Q6UWN5		UPI00006A77F6	NM_001031749.2			4/5		hmmpanther:PTHR10624											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		rs371523113	.												A	2	1	102	43798588	43798588	C	A	1	0	0	0	0	0	0	0	1	9024	871	31	1		1	LYPD5	19	43798588	Silent	SNP	C	C3N-02529_TP	20144375	43798588	14819028	97	31606											
PLEKHA4	0	.	GRCh38	chr19	48837419	48837419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctccacgcccactccctCggcgagagaaccccgtggaa	8	5	9	19	4	0	1	0	0	0	1	4	4	3	2	6	2	1	0	6	2	2	0	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.2210G>A	p.Arg737Gln	p.R737Q	ENST00000263265	20/20	183	170	13	190	190	0	strelka-varscan-mutect	PLEKHA4,missense_variant,p.Arg737Gln,ENST00000263265,NM_020904.2;PLEKHA4,3_prime_UTR_variant,,ENST00000355496,NM_001161354.1;PLEKHA4,3_prime_UTR_variant,,ENST00000597129,;HSD17B14,upstream_gene_variant,,ENST00000263278,NM_016246.2;HSD17B14,upstream_gene_variant,,ENST00000599157,;HSD17B14,upstream_gene_variant,,ENST00000595764,;PLEKHA4,non_coding_transcript_exon_variant,,ENST00000601146,;	T	ENST00000263265	Transcript	missense_variant	2766/3088	2210/2340	737/779	R/Q	cGa/cAa		1		-1	PLEKHA4	HGNC	HGNC:14339	protein_coding	YES	CCDS12737.1	ENSP00000263265	Q9H4M7		UPI00000721A6	NM_020904.2	tolerated_low_confidence(0.48)		20/20		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	102	48837419	48837419	C	T	1	0	0	0	0	1	0	0	0	12151	884	31	1		1	PLEKHA4	19	48837419	Missense_Mutation	SNP	C	C3N-02529_TP	5038831	48837419	9780197	98	31607											
SLC6A16	0	.	GRCh38	chr19	49290171	49290171	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactttgtttcatcaacttgTagaatttcttccttttgaac	9	20	4	8	0	3	2	2	1	1	1	4	2	4	2	1	0	3	2	1	0	5	9	novel		C3N-02529_TP	C3N-02529_NB	T	T																c.2163A>G	p.=	p.L721L	ENST00000335875	12/12	237	156	81	169	169	0	strelka-varscan-mutect	SLC6A16,synonymous_variant,p.=,ENST00000335875,NM_014037.2;SLC6A16,3_prime_UTR_variant,,ENST00000454748,;SLC6A16,downstream_gene_variant,,ENST00000598828,;SLC6A16,downstream_gene_variant,,ENST00000598221,;	C	ENST00000335875	Transcript	synonymous_variant	2405/2938	2163/2211	721/736	L	ctA/ctG		1		-1	SLC6A16	HGNC	HGNC:13622	protein_coding	YES	CCDS42590.1	ENSP00000338627	Q9GZN6		UPI00001305CE	NM_014037.2			12/12		hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF113																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	102	49290171	49290171	T	C	1	0	0	0	0	0	0	0	1	14962	1625	57	5		5	SLC6A16	19	49290171	Silent	SNP	T	C3N-02529_TP	452752	49290171	9327445	99	31608											
NR1H2	0	.	GRCh38	chr19	50377837	50377837	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accctgatgtcccaggcactGatgaggccagctcagcctgc	8	7	11	15	0	1	3	1	3	0	0	2	3	2	3	4	2	3	2	4	2	0	0	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.148G>C	p.Asp50His	p.D50H	ENST00000253727	4/10	55	48	7	44	44	0	strelka-varscan-mutect	NR1H2,missense_variant,p.Asp50His,ENST00000253727,NM_007121.5;NR1H2,missense_variant,p.Asp50His,ENST00000598168,;NR1H2,missense_variant,p.Asp50His,ENST00000599105,;NR1H2,missense_variant,p.Asp50His,ENST00000593926,;NR1H2,missense_variant,p.Asp50His,ENST00000411902,NM_001256647.1;NR1H2,missense_variant,p.Asp50His,ENST00000597130,;NR1H2,missense_variant,p.Asp50His,ENST00000597157,;NR1H2,missense_variant,p.Asp50His,ENST00000597790,;NR1H2,downstream_gene_variant,,ENST00000600355,;NR1H2,missense_variant,p.Asp50His,ENST00000593532,;NR1H2,non_coding_transcript_exon_variant,,ENST00000595730,;NR1H2,upstream_gene_variant,,ENST00000597085,;	C	ENST00000253727	Transcript	missense_variant	383/1998	148/1383	50/460	D/H	Gat/Cat		1		1	NR1H2	HGNC	HGNC:7965	protein_coding	YES	CCDS42593.1	ENSP00000253727	P55055		UPI000013CDEE	NM_007121.5	deleterious(0.01)		4/10		Low_complexity_(Seg):seg,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF316																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	102	50377837	50377837	G	C	1	0	0	0	0	1	0	0	0	10673	1290	45	4		4	NR1H2	19	50377837	Missense_Mutation	SNP	G	C3N-02529_TP	1087666	50377837	8239779	100	31609											
GPR32	0	.	GRCh38	chr19	50771555	50771555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccttcctctacgtcttcGttggcagagatttccaagaa	9	12	7	13	2	2	2	0	0	2	2	5	3	4	2	4	1	1	2	4	1	3	5			C3N-02529_TP	C3N-02529_NB	G	G																c.955G>A	p.Val319Ile	p.V319I	ENST00000270590	1/1	288	217	71	261	261	0	strelka-varscan-mutect	GPR32,missense_variant,p.Val319Ile,ENST00000270590,NM_001506.2;CTD-2568A17.1,downstream_gene_variant,,ENST00000563228,;	A	ENST00000270590	Transcript	missense_variant	1092/1269	955/1071	319/356	V/I	Gtt/Att	COSM1395558	1		1	GPR32	HGNC	HGNC:4487	protein_coding	YES	CCDS12801.1	ENSP00000270590	O75388	H9NIL6	UPI000005045C	NM_001506.2	tolerated(1)		1/1		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF27,Superfamily_domains:SSF81321											1						MODERATE	1	SNV			1	1										PASS		rs879062227	.												A	3	1	102	50771555	50771555	G	A	1	0	0	0	0	1	0	0	0	6572	1145	40	1		1	GPR32	19	50771555	Missense_Mutation	SNP	G	C3N-02529_TP	393718	50771555	7846061	101	31610											
ZNF320	0	.	GRCh38	chr19	52880998	52880998	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctctccagtatgaactctCtgatgttctgcaagacgtga	9	13	8	11	1	3	4	0	3	3	1	6	4	4	4	1	0	2	3	1	0	3	2	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.1128G>C	p.Gln376His	p.Q376H	ENST00000595635	8/8	251	232	19	287	287	0	strelka-varscan-mutect	ZNF320,missense_variant,p.Gln376His,ENST00000595635,;ZNF320,missense_variant,p.Gln376His,ENST00000391781,NM_207333.2;CTD-2331H12.8,missense_variant,p.Gln376His,ENST00000634278,;ZNF320,downstream_gene_variant,,ENST00000597091,;ZNF320,downstream_gene_variant,,ENST00000593618,;ZNF320,downstream_gene_variant,,ENST00000594741,;ZNF320,downstream_gene_variant,,ENST00000597265,;ZNF320,intron_variant,,ENST00000597909,;ZNF320,intron_variant,,ENST00000600930,;ZNF320,upstream_gene_variant,,ENST00000598199,;	G	ENST00000595635	Transcript	missense_variant	1630/6448	1128/1530	376/509	Q/H	caG/caC		1		-1	ZNF320	HGNC	HGNC:13842	protein_coding	YES	CCDS33095.1	ENSP00000473091	A2RRD8		UPI00004EC06C		tolerated(0.25)		8/8		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF197,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	102	52880998	52880998	C	G	1	0	0	0	0	1	0	0	0	18414	912	32	4		4	ZNF320	19	52880998	Missense_Mutation	SNP	C	C3N-02529_TP	2109443	52880998	5736618	102	31611											
CFAP61	0	.	GRCh38	chr20	20164197	20164197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgctttttgtattcagCtgttttgtattgatgagaaa	9	18	9	5	0	1	2	1	2	0	1	1	3	1	2	0	0	3	6	0	0	3	8	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.1174C>A	p.Leu392Met	p.L392M	ENST00000245957	11/27	172	159	13	114	114	0	strelka-mutect	CFAP61,missense_variant,p.Leu392Met,ENST00000245957,NM_015585.3;CFAP61,missense_variant,p.Leu392Met,ENST00000377306,;CFAP61,missense_variant,p.Leu392Met,ENST00000451767,NM_001167816.1;CFAP61,missense_variant,p.Leu346Met,ENST00000340348,;CFAP61,intron_variant,,ENST00000442372,;	A	ENST00000245957	Transcript	missense_variant	1250/4082	1174/3714	392/1237	L/M	Ctg/Atg		1		1	CFAP61	HGNC	HGNC:15872	protein_coding	YES	CCDS33447.1	ENSP00000245957	Q8NHU2		UPI0000206AE4	NM_015585.3	deleterious(0)		11/27		hmmpanther:PTHR21178,hmmpanther:PTHR21178:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	102	20164197	20164197	C	A	1	0	0	0	0	1	0	0	0	3028	796	28	2		2	CFAP61	20	20164197	Missense_Mutation	SNP	C	C3N-02529_TP		20164197	44279970	103	31612											
C21orf58	0	.	GRCh38	chr21	46302072	46302074	+	In_Frame_Del	DEL	TGG	TGG	-																															ccccaggtggccacacagcaTggtggtggtggtggtggtgg																								rs750021148		C3N-02529_TP	C3N-02529_NB	TGG	TGG																c.894_896delCCA	p.His299del	p.H299del	ENST00000291691	8/8	68	59	9	49	49	0	sindel-varindel	C21orf58,inframe_deletion,p.His299del,ENST00000291691,NM_058180.4;C21orf58,inframe_deletion,p.His193del,ENST00000397682,NM_001286476.1;C21orf58,inframe_deletion,p.His193del,ENST00000397679,NM_001286463.1;C21orf58,inframe_deletion,p.His193del,ENST00000397680,NM_001286477.1;C21orf58,inframe_deletion,p.His193del,ENST00000397683,NM_001286462.1;C21orf58,inframe_deletion,p.His261del,ENST00000417060,;YBEY,downstream_gene_variant,,ENST00000329319,NM_058181.1;YBEY,downstream_gene_variant,,ENST00000339195,NM_001314022.1;YBEY,downstream_gene_variant,,ENST00000397691,;YBEY,downstream_gene_variant,,ENST00000397701,NM_001314025.1;YBEY,downstream_gene_variant,,ENST00000397694,;YBEY,downstream_gene_variant,,ENST00000397692,;C21orf58,non_coding_transcript_exon_variant,,ENST00000472607,;C21orf58,intron_variant,,ENST00000491666,;	-	ENST00000291691	Transcript	inframe_deletion	2031-2033/2975	894-896/969	298-299/322	HH/H	caCCAt/cat	rs750021148,TMP_ESP_21_47721986_47721988	1		-1	C21orf58	HGNC	HGNC:1300	protein_coding	YES	CCDS13735.1	ENSP00000291691	P58505		UPI0000231C71	NM_058180.4			8/8		Low_complexity_(Seg):seg,hmmpanther:PTHR28604:SF2,hmmpanther:PTHR28604																	MODERATE		deletion	2			1										PASS		.	.												-	7	5	102	46302072	46302072	TGG	-	1	0	1	0	1	0	0	0	0	2013	1464	51	0		0	C21orf58	21	46302072	In_Frame_Del	DEL	TGG	C3N-02529_TP		46302072	407911	104	31613											
MYH9	0	.	GRCh38	chr22	36293864	36293864	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacgttgtccagctccacCtgcaccgggcggggagacac	7	6	13	15	3	1	1	1	0	0	1	3	2	3	1	4	3	2	3	4	3	0	1	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.3838-1G>A		p.X1280_splice	ENST00000216181		253	226	27	223	223	0	strelka-varscan-mutect	MYH9,splice_acceptor_variant,,ENST00000216181,NM_002473.5;MYH9,downstream_gene_variant,,ENST00000459960,;	T	ENST00000216181	Transcript	splice_acceptor_variant	-/7501	3838/5883	1280/1960				1		-1	MYH9	HGNC	HGNC:7579	protein_coding	YES	CCDS13927.1	ENSP00000216181	P35579	A0A024R1N1	UPI000012FB80	NM_002473.5				28/40																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	102	36293864	36293864	C	T	1	0	0	0	0	0	0	1	0	10042	695	24	3		3	MYH9	22	36293864	Splice_Site	SNP	C	C3N-02529_TP		36293864	14524604	105	31614											
EP300	0	.	GRCh38	chr22	41177007	41177007	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagatgaagcgggttgtgCagcataccaagggttgcaaa	14	7	14	6	1	0	3	0	1	0	2	0	3	0	3	1	2	5	5	1	2	5	3	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.5296C>T	p.Gln1766Ter	p.Q1766*	ENST00000263253	31/31	470	419	51	453	453	0	strelka-varscan-mutect	EP300,stop_gained,p.Gln1766Ter,ENST00000263253,NM_001429.3;EP300-AS1,intron_variant,,ENST00000420537,;RP1-85F18.6,intron_variant,,ENST00000415054,;EP300,downstream_gene_variant,,ENST00000635083,;	T	ENST00000263253	Transcript	stop_gained	6515/9587	5296/7245	1766/2414	Q/*	Cag/Tag		1		1	EP300	HGNC	HGNC:3373	protein_coding	YES	CCDS14010.1	ENSP00000263253	Q09472		UPI00001AE876	NM_001429.3			31/31		PROSITE_profiles:PS50134,hmmpanther:PTHR13808:SF4,hmmpanther:PTHR13808,Pfam_domain:PF02135,Gene3D:1.20.1020.10,SMART_domains:SM00551,Superfamily_domains:SSF57933																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	102	41177007	41177007	C	T	1	0	0	0	0	0	1	0	0	4994	711	25	3		3	EP300	22	41177007	Nonsense_Mutation	SNP	C	C3N-02529_TP	4883143	41177007	9641461	106	31615											
TYMP	0	.	GRCh38	chr22	50526460	50526460	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtccccgcgtgtccgctgagCcagagcagggcgccccctgc	4	5	14	18	4	0	2	0	1	0	1	2	2	2	2	6	1	3	2	6	1	0	0	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.945G>A	p.Trp315Ter	p.W315*	ENST00000395681	8/10	96	81	15	112	112	0	strelka-varscan-mutect	TYMP,stop_gained,p.Trp315Ter,ENST00000252029,NM_001113756.2,NM_001257988.1,NM_001953.4,NM_001113755.2;TYMP,stop_gained,p.Trp315Ter,ENST00000395678,;TYMP,stop_gained,p.Trp315Ter,ENST00000395680,;TYMP,stop_gained,p.Trp315Ter,ENST00000395681,NM_001257989.1;TYMP,stop_gained,p.Trp282Ter,ENST00000425169,;NCAPH2,downstream_gene_variant,,ENST00000395701,;NCAPH2,downstream_gene_variant,,ENST00000420993,NM_152299.3;NCAPH2,downstream_gene_variant,,ENST00000299821,NM_001185011.1;SCO2,upstream_gene_variant,,ENST00000543927,NM_001169109.1;SCO2,upstream_gene_variant,,ENST00000535425,NM_001169110.1;SCO2,upstream_gene_variant,,ENST00000252785,NM_001169111.1;SCO2,upstream_gene_variant,,ENST00000395693,NM_005138.2;ODF3B,downstream_gene_variant,,ENST00000329363,NM_001014440.3;NCAPH2,downstream_gene_variant,,ENST00000523045,;ODF3B,downstream_gene_variant,,ENST00000405135,;ODF3B,downstream_gene_variant,,ENST00000401779,;ODF3B,downstream_gene_variant,,ENST00000428989,;ODF3B,downstream_gene_variant,,ENST00000403326,;NCAPH2,downstream_gene_variant,,ENST00000522304,;CTA-384D8.36,downstream_gene_variant,,ENST00000608319,;NCAPH2,downstream_gene_variant,,ENST00000520297,;TYMP,non_coding_transcript_exon_variant,,ENST00000487577,;TYMP,non_coding_transcript_exon_variant,,ENST00000476284,;TYMP,downstream_gene_variant,,ENST00000487162,;ODF3B,downstream_gene_variant,,ENST00000468249,;NCAPH2,downstream_gene_variant,,ENST00000522048,;ODF3B,downstream_gene_variant,,ENST00000463472,;ODF3B,downstream_gene_variant,,ENST00000469660,;	T	ENST00000395681	Transcript	stop_gained	1067/1604	945/1464	315/487	W/*	tgG/tgA		1		-1	TYMP	HGNC	HGNC:3148	protein_coding	YES	CCDS58811.1	ENSP00000379038	P19971		UPI000155D5D9	NM_001257989.1			8/10		Gene3D:3.40.1030.10,Pfam_domain:PF00591,PIRSF_domain:PIRSF000478,hmmpanther:PTHR10515,hmmpanther:PTHR10515:SF1,Superfamily_domains:SSF52418,TIGRFAM_domain:TIGR02644																	HIGH	1	SNV	1			1										PASS		rs1052593047	.												T	4	4	102	50526460	50526460	C	T	1	0	0	0	0	0	1	0	0	17326	740	26	3		3	TYMP	22	50526460	Nonsense_Mutation	SNP	C	C3N-02529_TP	9349453	50526460	292008	107	31616											
SHANK3	0	.	GRCh38	chr22	50730727	50730727	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctccctccgcaggctcttCagcagcctcggtgagctgag	5	9	11	16	2	3	2	1	2	2	0	6	2	4	2	3	2	3	4	3	2	0	1	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.4608C>T	p.=	p.F1536F	ENST00000262795	25/25	155	144	11	143	142	1	strelka-varscan-mutect	SHANK3,synonymous_variant,p.=,ENST00000262795,;SHANK3,synonymous_variant,p.=,ENST00000445220,NM_033517.1;SHANK3,non_coding_transcript_exon_variant,,ENST00000414786,;	T	ENST00000262795	Transcript	synonymous_variant	4608/7091	4608/5193	1536/1730	F	ttC/ttT		1		1	SHANK3	HGNC	HGNC:14294	protein_coding	YES		ENSP00000489147		A0A0U1RQS4	UPI00071AFB18				25/25		hmmpanther:PTHR24135:SF4,hmmpanther:PTHR24135																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	102	50730727	50730727	C	T	1	0	0	0	0	0	0	0	1	14525	825	29	3		3	SHANK3	22	50730727	Silent	SNP	C	C3N-02529_TP	204267	50730727	87741	108	31617											
P2RY8	0	.	GRCh38	chrX	1465674	1465674	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaattcccgggacgcAaagtaataaacaaacgggtc	15	6	11	9	3	0	0	0	0	0	0	2	2	1	2	1	3	3	3	1	3	6	3	novel		C3N-02529_TP	C3N-02529_NB	A	A																c.885T>G	p.Phe295Leu	p.F295L	ENST00000381297	2/2	421	399	22	416	416	0	strelka-varscan-mutect	P2RY8,missense_variant,p.Phe295Leu,ENST00000381297,NM_178129.4;P2RY8,downstream_gene_variant,,ENST00000460672,;	C	ENST00000381297	Transcript	missense_variant	1096/4198	885/1080	295/359	F/L	ttT/ttG		1		-1	P2RY8	HGNC	HGNC:15524	protein_coding	YES	CCDS14115.1	ENSP00000370697	Q86VZ1		UPI000000DA6D	NM_178129.4	tolerated(0.09)		2/2		hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF25,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	102	1465674	1465674	A	C	1	0	0	0	0	1	0	0	0	11428	127	5	5		5	P2RY8	23	1465674	Missense_Mutation	SNP	A	C3N-02529_TP		1465674	154575221	109	31618											
PPP4R3CP	0	.	GRCh38	chrX	27462264	27462264	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttgaggctgtaatgcctGagaaaatgaacataactcct	13	11	9	8	0	0	3	0	3	0	1	1	4	1	3	2	1	3	3	2	1	5	3	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.1033C>T	p.Gln345Ter	p.Q345*	ENST00000412172	1/1	165	154	11	175	175	0	strelka-varscan-mutect	PPP4R3CP,stop_gained,p.Gln345Ter,ENST00000412172,;	A	ENST00000412172	Transcript	stop_gained	1078/3131	1033/2499	345/832	Q/*	Cag/Tag		1		-1	PPP4R3CP	HGNC	HGNC:33146	protein_coding	YES		ENSP00000489770			UPI0000D61D3F				1/1		Pfam_domain:PF04802,hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF5,Superfamily_domains:SSF48371																	HIGH	1	SNV				1										PASS		.	.												A	4	1	102	27462264	27462264	G	A	1	0	0	0	0	0	1	0	0	12529	1299	45	3		3	PPP4R3CP	23	27462264	Nonsense_Mutation	SNP	G	C3N-02529_TP	25996590	27462264	128578631	110	31619											
NR0B1	0	.	GRCh38	chrX	30308790	30308790	+	Missense_Mutation	SNP	C	C	A																															gcggtacagaagcgccgtggCccgcccgcctggtagcgcct																								novel		C3N-02529_TP	C3N-02529_NB	C	C																c.574G>T	p.Ala192Ser	p.A192S	ENST00000378970	1/2	321	276	45	332	332	0	strelka-varscan-mutect	NR0B1,missense_variant,p.Ala192Ser,ENST00000378970,NM_000475.4;NR0B1,upstream_gene_variant,,ENST00000378963,;	A	ENST00000378970	Transcript	missense_variant	809/2021	574/1413	192/470	A/S	Gcc/Tcc		1		-1	NR0B1	HGNC	HGNC:7960	protein_coding	YES	CCDS14223.1	ENSP00000368253	P51843	F1D8P4	UPI0000128ED4	NM_000475.4	tolerated(0.07)		1/2																			MODERATE	1	SNV	1			1										PASS		rs1197911658	.												A	3	1	102	30308790	30308790	C	A	1	0	0	0	0	1	0	0	0	10669	739	26	2		2	NR0B1	23	30308790	Missense_Mutation	SNP	C	C3N-02529_TP	2846526	30308790	125732105	111	31620	643	2									
NR0B1	0	.	GRCh38	chrX	30308791	30308791	+	Silent	SNP	C	C	T																															cggtacagaagcgccgtggcCcgcccgcctggtagcgcctc																								novel		C3N-02529_TP	C3N-02529_NB	C	C																c.573G>A	p.=	p.R191R	ENST00000378970	1/2	325	279	46	334	334	0	strelka-varscan-mutect	NR0B1,synonymous_variant,p.=,ENST00000378970,NM_000475.4;NR0B1,upstream_gene_variant,,ENST00000378963,;	T	ENST00000378970	Transcript	synonymous_variant	808/2021	573/1413	191/470	R	cgG/cgA		1		-1	NR0B1	HGNC	HGNC:7960	protein_coding	YES	CCDS14223.1	ENSP00000368253	P51843	F1D8P4	UPI0000128ED4	NM_000475.4			1/2																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	102	30308791	30308791	C	T	1	0	0	0	0	0	0	0	1	10669	610	22	3		3	NR0B1	23	30308791	Silent	SNP	C	C3N-02529_TP	1	30308791	125732104	112	31621	643	2									
ATP6AP2	0	.	GRCh38	chrX	40599704	40599704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagactctgaacaattcaGagatgcttctaagatccttg	13	11	9	8	0	3	4	1	1	2	3	4	6	4	5	1	1	2	1	1	1	4	4	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.701G>C	p.Arg234Thr	p.R234T	ENST00000636580	7/9	564	510	54	555	555	0	strelka-varscan-mutect	ATP6AP2,missense_variant,p.Arg234Thr,ENST00000636580,NM_005765.2;ATP6AP2,missense_variant,p.Arg234Thr,ENST00000378438,;ATP6AP2,missense_variant,p.Arg202Thr,ENST00000636409,;ATP6AP2,missense_variant,p.Arg158Thr,ENST00000637327,;ATP6AP2,missense_variant,p.Arg202Thr,ENST00000636287,;ATP6AP2,missense_variant,p.Arg158Thr,ENST00000636251,;ATP6AP2,missense_variant,p.Arg185Thr,ENST00000637526,;ATP6AP2,missense_variant,p.Arg80Thr,ENST00000637482,;ATP6AP2,missense_variant,p.Arg229Thr,ENST00000636196,;ATP6AP2,missense_variant,p.Arg215Thr,ENST00000638153,;ATP6AP2,missense_variant,p.Arg234Thr,ENST00000447485,;ATP6AP2,missense_variant,p.Arg126Thr,ENST00000636970,;ATP6AP2,missense_variant,p.Arg156Thr,ENST00000423649,;ATP6AP2,missense_variant,p.Arg218Thr,ENST00000637955,;ATP6AP2,missense_variant,p.Arg70Thr,ENST00000637614,;ATP6AP2,downstream_gene_variant,,ENST00000436783,;ATP6AP2,upstream_gene_variant,,ENST00000637165,;ATP6AP2,downstream_gene_variant,,ENST00000637930,;ATP6AP2,missense_variant,p.Arg234Thr,ENST00000636787,;ATP6AP2,3_prime_UTR_variant,,ENST00000636639,;ATP6AP2,3_prime_UTR_variant,,ENST00000636574,;ATP6AP2,3_prime_UTR_variant,,ENST00000635774,;ATP6AP2,3_prime_UTR_variant,,ENST00000635734,;ATP6AP2,3_prime_UTR_variant,,ENST00000486558,;ATP6AP2,non_coding_transcript_exon_variant,,ENST00000635829,;ATP6AP2,non_coding_transcript_exon_variant,,ENST00000637140,;ATP6AP2,non_coding_transcript_exon_variant,,ENST00000638046,;ATP6AP2,downstream_gene_variant,,ENST00000637793,;ATP6AP2,downstream_gene_variant,,ENST00000637019,;ATP6AP2,downstream_gene_variant,,ENST00000479120,;	C	ENST00000636580	Transcript	missense_variant	892/2337	701/1053	234/350	R/T	aGa/aCa		1		1	ATP6AP2	HGNC	HGNC:18305	protein_coding	YES	CCDS14252.1	ENSP00000490083			UPI000006EC3F	NM_005765.2	tolerated(0.24)		7/9		hmmpanther:PTHR13351																	MODERATE	1	SNV				1										PASS		.	.												C	3	2	102	40599704	40599704	G	C	1	0	0	0	0	1	0	0	0	1320	942	33	4		4	ATP6AP2	23	40599704	Missense_Mutation	SNP	G	C3N-02529_TP	10290913	40599704	115441191	113	31622											
FAM120C	0	.	GRCh38	chrX	54116725	54116725	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcccgaaatgtcagtgcaGacaccagctcaggggtttga	11	9	11	10	1	2	2	2	1	0	1	3	3	3	2	2	2	2	3	2	2	1	2			C3N-02529_TP	C3N-02529_NB	G	G																c.2132C>G	p.Ser711Cys	p.S711C	ENST00000375180	10/16	392	372	20	306	306	0	strelka-mutect	FAM120C,missense_variant,p.Ser711Cys,ENST00000375180,NM_017848.5;FAM120C,missense_variant,p.Ser711Cys,ENST00000328235,NM_001300788.1;	C	ENST00000375180	Transcript	missense_variant	2189/8057	2132/3291	711/1096	S/C	tCt/tGt	COSM5587760	1		-1	FAM120C	HGNC	HGNC:16949	protein_coding	YES	CCDS14356.1	ENSP00000364324	Q9NX05		UPI00001D68ED	NM_017848.5	deleterious(0.03)		10/16		hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF15											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	102	54116725	54116725	G	C	1	0	0	0	0	1	0	0	0	5275	942	33	4		4	FAM120C	23	54116725	Missense_Mutation	SNP	G	C3N-02529_TP	13517021	54116725	101924170	114	31623											
ATP7A	0	.	GRCh38	chrX	78040659	78040659	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaactggctatccatattCtgaaatctatgggcttagaa	13	12	8	8	0	2	3	0	1	2	2	3	3	3	3	1	2	1	2	1	2	7	5	novel		C3N-02529_TP	C3N-02529_NB	C	C																c.3727C>A	p.Leu1243Met	p.L1243M	ENST00000341514	19/23	307	289	18	351	351	0	strelka-varscan-mutect	ATP7A,missense_variant,p.Leu1243Met,ENST00000341514,NM_000052.6;ATP7A,missense_variant,p.Leu1165Met,ENST00000343533,NM_001282224.1;	A	ENST00000341514	Transcript	missense_variant	3882/8483	3727/4503	1243/1500	L/M	Ctg/Atg		1		1	ATP7A	HGNC	HGNC:869	protein_coding	YES	CCDS35339.1	ENSP00000345728	Q04656		UPI000044D414	NM_000052.6	deleterious(0)		19/23		Gene3D:3.40.50.1000,Pfam_domain:PF00702,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF326,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01525																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	102	78040659	78040659	C	A	1	0	0	0	0	1	0	0	0	1343	912	32	2		2	ATP7A	23	78040659	Missense_Mutation	SNP	C	C3N-02529_TP	23923934	78040659	78000236	115	31624											
LHFPL1	0	.	GRCh38	chrX	112671040	112671040	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctgctcccatgcaacgTcccatcattctggagatgag	8	10	10	13	2	2	2	1	1	1	1	4	3	4	2	2	1	4	3	2	1	1	1	novel		C3N-02529_TP	C3N-02529_NB	T	T																c.351A>T	p.=	p.G117G	ENST00000371968	2/4	106	81	25	121	121	0	strelka-varscan-mutect	LHFPL1,synonymous_variant,p.=,ENST00000371968,NM_178175.3;LHFPL1,intron_variant,,ENST00000478229,;	A	ENST00000371968	Transcript	synonymous_variant	591/1675	351/663	117/220	G	ggA/ggT		1		-1	LHFPL1	HGNC	HGNC:6587	protein_coding	YES	CCDS14562.1	ENSP00000361036	Q86WI0		UPI00000622AD	NM_178175.3			2/4		hmmpanther:PTHR12489:SF15,hmmpanther:PTHR12489,Pfam_domain:PF10242																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	102	112671040	112671040	T	A	1	0	0	0	0	0	0	0	1	8673	1654	58	4		4	LHFPL1	23	112671040	Silent	SNP	T	C3N-02529_TP	34630381	112671040	43369855	116	31625											
TENM1	0	.	GRCh38	chrX	124392223	124392223	+	Missense_Mutation	SNP	C	C	A																															ttatatctgcttacaggagaCcacagaatgggtcgcccagt																								novel		C3N-02529_TP	C3N-02529_NB	C	C																c.5517G>T	p.Trp1839Cys	p.W1839C	ENST00000422452	28/32	270	227	43	244	244	0	strelka-varscan-mutect	TENM1,missense_variant,p.Trp1839Cys,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,missense_variant,p.Trp1832Cys,ENST00000371130,NM_014253.3;STAG2,intron_variant,,ENST00000469481,;	A	ENST00000422452	Transcript	missense_variant	5581/12891	5517/8199	1839/2732	W/C	tgG/tgT		1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1	deleterious(0)		28/32		hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	102	124392223	124392223	C	A	1	0	0	0	0	1	0	0	0	16171	508	18	2		2	TENM1	23	124392223	Missense_Mutation	SNP	C	C3N-02529_TP	11721183	124392223	31648672	117	31626	644	2									
TENM1	0	.	GRCh38	chrX	124392224	124392224	+	Missense_Mutation	SNP	C	C	G																															tatatctgcttacaggagacCacagaatgggtcgcccagtc																										C3N-02529_TP	C3N-02529_NB	C	C																c.5516G>C	p.Trp1839Ser	p.W1839S	ENST00000422452	28/32	271	228	43	245	245	0	strelka-varscan-mutect	TENM1,missense_variant,p.Trp1839Ser,ENST00000422452,NM_001163278.1,NM_001163279.1;TENM1,missense_variant,p.Trp1832Ser,ENST00000371130,NM_014253.3;STAG2,intron_variant,,ENST00000469481,;	G	ENST00000422452	Transcript	missense_variant	5580/12891	5516/8199	1839/2732	W/S	tGg/tCg	COSM4106407,COSM4906907	1		-1	TENM1	HGNC	HGNC:8117	protein_coding	YES	CCDS55488.1	ENSP00000403954	Q9UKZ4		UPI0000211B6A	NM_001163278.1,NM_001163279.1	deleterious(0)		28/32		hmmpanther:PTHR11219:SF7,hmmpanther:PTHR11219											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												G	3	3	102	124392224	124392224	C	G	1	0	0	0	0	1	0	0	0	16171	595	21	4		4	TENM1	23	124392224	Missense_Mutation	SNP	C	C3N-02529_TP	1	124392224	31648671	118	31627	644	2									
FAM127B	0	.	GRCh38	chrX	135052099	135052099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccttcatcagctgcacccGaccgtccatcgtgccgcgcg	5	7	11	18	6	2	0	2	0	0	0	4	1	3	0	5	1	3	2	5	1	0	1	rs374739071		C3N-02529_TP	C3N-02529_NB	G	G																c.10C>T	p.Arg4Trp	p.R4W	ENST00000370775	1/1	72	62	10	102	102	0	strelka-varscan-mutect	FAM127B,missense_variant,p.Arg4Trp,ENST00000370775,NM_001078172.1;FAM127B,non_coding_transcript_exon_variant,,ENST00000520964,;FAM127B,non_coding_transcript_exon_variant,,ENST00000522309,;FAM127B,upstream_gene_variant,,ENST00000518153,;	A	ENST00000370775	Transcript	missense_variant	77/1244	10/342	4/113	R/W	Cgg/Tgg	rs374739071	1		-1	FAM127B	HGNC	HGNC:24514	protein_coding	YES	CCDS43998.1	ENSP00000375267	Q9BWD3		UPI0000140B18	NM_001078172.1	deleterious(0)		1/1		hmmpanther:PTHR15503:SF6,hmmpanther:PTHR15503,Pfam_domain:PF16297																	MODERATE	1	SNV				1										PASS		rs374739071	.												A	3	1	102	135052099	135052099	G	A	1	0	0	0	0	1	0	0	0	5284	1057	37	1		1	FAM127B	23	135052099	Missense_Mutation	SNP	G	C3N-02529_TP	10659875	135052099	20988796	119	31628											
PLXNB3	0	.	GRCh38	chrX	153767621	153767621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccgctcctacgtggcccGcgtctgcctgggggacacca	5	7	13	16	4	1	0	0	0	1	0	2	1	2	1	5	3	3	2	5	3	2	2	novel		C3N-02529_TP	C3N-02529_NB	G	G																c.863G>A	p.Arg288His	p.R288H	ENST00000538966	4/37	155	136	19	109	108	1	strelka-varscan-mutect	PLXNB3,missense_variant,p.Arg288His,ENST00000538966,NM_001163257.1;PLXNB3,missense_variant,p.Arg265His,ENST00000361971,NM_005393.2;U52111.14,upstream_gene_variant,,ENST00000434284,;U52111.14,upstream_gene_variant,,ENST00000416854,;	A	ENST00000538966	Transcript	missense_variant	1134/6377	863/5799	288/1932	R/H	cGc/cAc		1		1	PLXNB3	HGNC	HGNC:9105	protein_coding	YES	CCDS55536.1	ENSP00000442736	Q9ULL4		UPI0001AFF680	NM_001163257.1	deleterious(0)		4/37		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF33,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE		SNV	5			1										PASS		.	.												A	3	1	102	153767621	153767621	G	A	1	0	0	0	0	1	0	0	0	12231	1087	38	1		1	PLXNB3	23	153767621	Missense_Mutation	SNP	G	C3N-02529_TP	18715522	153767621	2273274	120	31629											
SLC35E2B	0	.	GRCh38	chr1	1675522	1675522	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagatgggggcggagctcTtcaccgtctcagcaaacgaa	11	7	13	10	3	3	2	2	1	2	1	4	4	3	3	1	3	3	2	1	3	3	1	novel		C3N-02572_TP	C3N-02572_NB	T	T																c.527A>G	p.Lys176Arg	p.K176R	ENST00000617444	5/10	79	74	5	68	68	0	varscan-mutect	SLC35E2B,missense_variant,p.Lys176Arg,ENST00000617444,NM_001290264.1;SLC35E2B,missense_variant,p.Lys176Arg,ENST00000611123,NM_001110781.2;SLC35E2B,missense_variant,p.Lys176Arg,ENST00000614300,;RP11-345P4.6,downstream_gene_variant,,ENST00000596308,;SLC35E2B,non_coding_transcript_exon_variant,,ENST00000481276,;RP11-345P4.6,downstream_gene_variant,,ENST00000597891,;	C	ENST00000617444	Transcript	missense_variant	1288/6283	527/1218	176/405	K/R	aAg/aGg		1		-1	SLC35E2B	HGNC	HGNC:33941	protein_coding	YES	CCDS44041.1	ENSP00000481694	P0CK96		UPI00001B6AFE	NM_001290264.1	deleterious(0.04)		5/10		Pfam_domain:PF03151,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF43																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	103	1675522	1675522	T	C	1	0	0	0	0	1	0	0	0	14856	1609	56	5		5	SLC35E2B	1	1675522	Missense_Mutation	SNP	T	C3N-02572_TP		1675522	247280900	1	31630											
ERICH3	0	.	GRCh38	chr1	74646685	74646685	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctccatatcaagaactttAtgaaaaattgcctgggctaa	15	11	6	9	0	1	2	1	1	0	1	2	2	2	2	3	1	2	1	3	1	7	5	novel		C3N-02572_TP	C3N-02572_NB	A	A																c.225T>G	p.His75Gln	p.H75Q	ENST00000326665	3/15	71	66	5	149	149	0	varscan-mutect	ERICH3,missense_variant,p.His75Gln,ENST00000326665,NM_001002912.4;	C	ENST00000326665	Transcript	missense_variant	444/7159	225/4593	75/1530	H/Q	caT/caG		1		-1	ERICH3	HGNC	HGNC:25346	protein_coding	YES	CCDS30755.1	ENSP00000322609	Q5RHP9		UPI0000237200	NM_001002912.4	deleterious(0.04)		3/15		hmmpanther:PTHR23034																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	103	74646685	74646685	A	C	1	0	0	0	0	1	0	0	0	5083	446	16	5		5	ERICH3	1	74646685	Missense_Mutation	SNP	A	C3N-02572_TP	72971163	74646685	174309737	2	31631											
HMCN1	0	.	GRCh38	chr1	186144221	186144221	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggggaacatgcagcgaaaGttgtgggaaaggtactcaga	13	8	15	5	1	1	1	1	0	0	1	1	4	1	3	0	4	4	3	0	4	4	3	novel		C3N-02572_TP	C3N-02572_NB	G	G																c.13973G>C	p.Ser4658Thr	p.S4658T	ENST00000271588	90/107	53	33	20	62	62	0	strelka-varscan-mutect	HMCN1,missense_variant,p.Ser4658Thr,ENST00000271588,NM_031935.2;	C	ENST00000271588	Transcript	missense_variant	14202/18208	13973/16908	4658/5635	S/T	aGt/aCt		1		1	HMCN1	HGNC	HGNC:19194	protein_coding	YES	CCDS30956.1	ENSP00000271588	Q96RW7		UPI0000458C0E	NM_031935.2	tolerated(1)		90/107		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF678,SMART_domains:SM00209,Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	103	186144221	186144221	G	C	1	0	0	0	0	1	0	0	0	7111	1029	36	4		4	HMCN1	1	186144221	Missense_Mutation	SNP	G	C3N-02572_TP	111497536	186144221	62812201	3	31632											
CHRM3	0	.	GRCh38	chr1	239908426	239908426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctggaaacccagctccgaGcagatggaccaagaccacag	14	3	11	13	1	0	2	0	0	0	2	1	5	1	4	4	2	4	3	4	2	2	0	novel		C3N-02572_TP	C3N-02572_NB	G	G																c.975G>T	p.Glu325Asp	p.E325D	ENST00000255380	5/5	127	119	8	89	89	0	strelka-varscan	CHRM3,missense_variant,p.Glu325Asp,ENST00000255380,NM_000740.2;CHRM3,missense_variant,p.Glu325Asp,ENST00000615928,;CHRM3,downstream_gene_variant,,ENST00000448020,;	T	ENST00000255380	Transcript	missense_variant	1754/8780	975/1773	325/590	E/D	gaG/gaT		1		1	CHRM3	HGNC	HGNC:1952	protein_coding	YES	CCDS1616.1	ENSP00000255380	P20309	A0A024R3S2	UPI0000050453	NM_000740.2	tolerated(0.61)		5/5		Pfam_domain:PF00001,PROSITE_profiles:PS50262,SMART_domains:SM01381																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	103	239908426	239908426	G	T	1	0	0	0	0	1	0	0	0	3138	962	34	2		2	CHRM3	1	239908426	Missense_Mutation	SNP	G	C3N-02572_TP	53764205	239908426	9047996	4	31633											
ROCK2	0	.	GRCh38	chr2	11215528	11215528	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatcattttccaaatttcGttttttgtctgcttcatgat	8	20	4	9	1	3	1	2	1	1	0	5	1	4	1	2	0	1	2	2	0	1	7	novel		C3N-02572_TP	C3N-02572_NB	G	G																c.1579C>T	p.Arg527Ter	p.R527*	ENST00000315872	14/33	55	51	4	94	94	0	varscan-mutect	ROCK2,stop_gained,p.Arg527Ter,ENST00000315872,NM_001321643.1,NM_004850.3;ROCK2,stop_gained,p.Arg284Ter,ENST00000401753,;ROCK2,5_prime_UTR_variant,,ENST00000616279,;ROCK2,3_prime_UTR_variant,,ENST00000261535,;ROCK2,downstream_gene_variant,,ENST00000484951,;	A	ENST00000315872	Transcript	stop_gained	2028/8292	1579/4167	527/1388	R/*	Cga/Tga		1		-1	ROCK2	HGNC	HGNC:10252	protein_coding	YES	CCDS42654.1	ENSP00000317985	O75116		UPI000034ECB0	NM_001321643.1,NM_004850.3			14/33		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF28,PIRSF_domain:PIRSF037568																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	103	11215528	11215528	G	A	1	0	0	0	0	0	1	0	0	13696	1153	40	1		1	ROCK2	2	11215528	Nonsense_Mutation	SNP	G	C3N-02572_TP		11215528	230978001	5	31634											
ESPNL	0	.	GRCh38	chr2	238107805	238107805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggtcacattcaccgaCatcggactcacggcacggga	10	5	10	16	4	3	0	3	0	0	0	4	3	3	2	3	4	0	1	3	4	0	1	novel		C3N-02572_TP	C3N-02572_NB	C	C																c.687C>A	p.Asp229Glu	p.D229E	ENST00000343063	4/9	118	111	7	65	65	0	strelka-varscan	ESPNL,missense_variant,p.Asp229Glu,ENST00000343063,NM_194312.2;ESPNL,missense_variant,p.Asp229Glu,ENST00000409169,;ESPNL,upstream_gene_variant,,ENST00000612395,;	A	ENST00000343063	Transcript	missense_variant	950/4836	687/3018	229/1005	D/E	gaC/gaA		1		1	ESPNL	HGNC	HGNC:27937	protein_coding	YES	CCDS2525.1	ENSP00000339115	Q6ZVH7		UPI000022BC90	NM_194312.2	deleterious(0.02)		4/9		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24153:SF0,hmmpanther:PTHR24153,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	103	238107805	238107805	C	A	1	0	0	0	0	1	0	0	0	5117	477	17	2		2	ESPNL	2	238107805	Missense_Mutation	SNP	C	C3N-02572_TP	226892277	238107805	4085724	6	31635											
LRRIQ4	0	.	GRCh38	chr3	169822327	169822327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaaggaaattcccgtcGtcatctttaaaaacctccac	13	10	5	13	2	2	1	1	1	1	0	5	2	4	2	4	1	1	0	4	1	5	3	rs747187885,rs758532964		C3N-02572_TP	C3N-02572_NB	G	G																c.406G>A	p.Val136Ile	p.V136I	ENST00000340806	1/5	106	93	13	97	97	0	strelka-varscan-mutect	LRRIQ4,missense_variant,p.Val136Ile,ENST00000340806,NM_001080460.1;	A	ENST00000340806	Transcript	missense_variant	406/1827	406/1683	136/560	V/I	Gtc/Atc	rs747187885,rs758532964,COSM5570702	1		1	LRRIQ4	HGNC	HGNC:34298	protein_coding	YES	CCDS46951.1	ENSP00000342188	A6NIV6		UPI0000197671	NM_001080460.1	tolerated(0.18)		1/5		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,SMART_domains:SM00369,Superfamily_domains:SSF52058											0,0,1						MODERATE	1	SNV	5		0,0,1	1										PASS		rs747187885	.												A	3	1	103	169822327	169822327	G	A	1	0	0	0	0	1	0	0	0	8937	1145	40	1		1	LRRIQ4	3	169822327	Missense_Mutation	SNP	G	C3N-02572_TP		169822327	28473232	7	31636											
C4orf50	0	.	GRCh38	chr4	5988823	5988823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtcttctattcctagcaCgatatcctttatcagctctt	8	17	4	12	1	4	0	1	0	3	0	6	1	6	0	2	0	2	2	2	0	4	8	rs537996369		C3N-02572_TP	C3N-02572_NB	C	C																c.3223G>A	p.Val1075Met	p.V1075M	ENST00000531445	6/12	332	315	17	265	265	0	strelka-varscan-mutect	C4orf50,missense_variant,p.Val1075Met,ENST00000531445,;C4orf50,5_prime_UTR_variant,,ENST00000324058,;	T	ENST00000531445	Transcript	missense_variant	3299/6860	3223/4527	1075/1508	V/M	Gtg/Atg	rs537996369	1		-1	C4orf50	HGNC	HGNC:33766	protein_coding	YES		ENSP00000437121		E9PNW5			deleterious(0.01)		6/12		hmmpanther:PTHR36866																	MODERATE	1	SNV	1			1										PASS		rs537996369	.												T	3	4	103	5988823	5988823	C	T	1	0	0	0	0	1	0	0	0	2089	536	19	1		1	C4orf50	4	5988823	Missense_Mutation	SNP	C	C3N-02572_TP		5988823	184225732	8	31637											
TMPRSS11B	0	.	GRCh38	chr4	68234477	68234477	+	Missense_Mutation	SNP	G	G	A																															aaatacccatgagtttaatgGaagcaggaactgcattccag																										C3N-02572_TP	C3N-02572_NB	G	G																c.455C>T	p.Ser152Phe	p.S152F	ENST00000332644	5/10	87	69	18	113	113	0	strelka-varscan-mutect	TMPRSS11B,missense_variant,p.Ser152Phe,ENST00000332644,NM_182502.3;TMPRSS11B,non_coding_transcript_exon_variant,,ENST00000502365,;TMPRSS11B,upstream_gene_variant,,ENST00000510856,;	A	ENST00000332644	Transcript	missense_variant	617/2671	455/1251	152/416	S/F	tCc/tTc	COSM734949	1		-1	TMPRSS11B	HGNC	HGNC:25398	protein_coding	YES	CCDS3521.1	ENSP00000330475	Q86T26		UPI000013E249	NM_182502.3	deleterious(0)		5/10		PROSITE_profiles:PS50024,PIRSF_domain:PIRSF037941,Superfamily_domains:0047452											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	103	68234477	68234477	G	A	1	0	0	0	0	1	0	0	0	16716	1174	41	3		3	TMPRSS11B	4	68234477	Missense_Mutation	SNP	G	C3N-02572_TP	62245654	68234477	121980078	9	31638	645	2	1	34		3	2	63	N	G	9.836747e-05
TMPRSS11B	0	.	GRCh38	chr4	68234484	68234484	+	Missense_Mutation	SNP	G	G	A																															catgagtttaatggaagcagGaactgcattccaggatgcca																								novel		C3N-02572_TP	C3N-02572_NB	G	G																c.448C>T	p.Pro150Ser	p.P150S	ENST00000332644	5/10	101	79	22	128	128	0	strelka-varscan-mutect	TMPRSS11B,missense_variant,p.Pro150Ser,ENST00000332644,NM_182502.3;TMPRSS11B,non_coding_transcript_exon_variant,,ENST00000502365,;TMPRSS11B,upstream_gene_variant,,ENST00000510856,;	A	ENST00000332644	Transcript	missense_variant	610/2671	448/1251	150/416	P/S	Cct/Tct		1		-1	TMPRSS11B	HGNC	HGNC:25398	protein_coding	YES	CCDS3521.1	ENSP00000330475	Q86T26		UPI000013E249	NM_182502.3	tolerated(0.28)		5/10		PROSITE_profiles:PS50024,PIRSF_domain:PIRSF037941,Superfamily_domains:0047452																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	103	68234484	68234484	G	A	1	0	0	0	0	1	0	0	0	16716	1174	41	3		3	TMPRSS11B	4	68234484	Missense_Mutation	SNP	G	C3N-02572_TP	7	68234484	121980071	10	31639	645	2	1	34		3	2	63	N	G	9.836747e-05
TMPRSS11B	0	.	GRCh38	chr4	68234539	68234539	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgatgtaatttagccttGattttagtcctcatgctaac	10	17	6	8	0	2	2	1	2	1	0	3	2	3	2	2	0	3	2	2	0	4	7	novel		C3N-02572_TP	C3N-02572_NB	G	G																c.393C>T	p.=	p.I131I	ENST00000332644	5/10	167	130	37	260	260	0	strelka-varscan-mutect	TMPRSS11B,synonymous_variant,p.=,ENST00000332644,NM_182502.3;TMPRSS11B,non_coding_transcript_exon_variant,,ENST00000502365,;TMPRSS11B,upstream_gene_variant,,ENST00000510856,;	A	ENST00000332644	Transcript	synonymous_variant	555/2671	393/1251	131/416	I	atC/atT		1		-1	TMPRSS11B	HGNC	HGNC:25398	protein_coding	YES	CCDS3521.1	ENSP00000330475	Q86T26		UPI000013E249	NM_182502.3			5/10		PROSITE_profiles:PS50024,Pfam_domain:PF01390,PIRSF_domain:PIRSF037941,Gene3D:1ivzA00,Superfamily_domains:0047452																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	103	68234539	68234539	G	A	1	0	0	0	0	0	0	0	1	16716	1280	45	3		3	TMPRSS11B	4	68234539	Silent	SNP	G	C3N-02572_TP	55	68234539	121980016	11	31640			1	34		3	2	63	N	G	9.836747e-05
UGT2B4	0	.	GRCh38	chr4	69495234	69495234	+	Frame_Shift_Del	DEL	T	T	-																															atagatcatattttttacccTctctatgaaagtcatttggt																								novel		C3N-02572_TP	C3N-02572_NB	T	T																c.628delA	p.Arg210GlyfsTer2	p.R210Gfs*2	ENST00000305107	1/6	25	19	6	65	65	0	sindel-varindel-pindel	UGT2B4,frameshift_variant,p.Arg210GlyfsTer2,ENST00000305107,NM_021139.2;UGT2B4,frameshift_variant,p.Arg210GlyfsTer2,ENST00000512583,NM_001297615.1;UGT2B4,downstream_gene_variant,,ENST00000510114,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000502655,;UGT2B4,intron_variant,,ENST00000506580,;UGT2B4,intron_variant,,ENST00000503836,;	-	ENST00000305107	Transcript	frameshift_variant	675/2103	628/1587	210/528	R/X	Agg/gg		1		-1	UGT2B4	HGNC	HGNC:12553	protein_coding	YES	CCDS43234.1	ENSP00000305221	P06133		UPI000000087F	NM_021139.2			1/6		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF198,Pfam_domain:PF00201,Superfamily_domains:SSF53756																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	103	69495234	69495234	T	-	1	0	1	0	1	0	0	0	0	17485	1550	54	0		0	UGT2B4	4	69495234	Frame_Shift_Del	DEL	T	C3N-02572_TP	1260695	69495234	120719321	12	31641											
HACE1	0	.	GRCh38	chr6	104784084	104784084	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagatgaagaaaaatttctAcctgtgcttttatgatatgc	15	14	7	5	0	1	4	0	2	1	2	1	4	1	4	1	0	3	1	1	0	7	5	novel		C3N-02572_TP	C3N-02572_NB	A	A																c.1566+2T>A		p.X522_splice	ENST00000262903		66	62	4	171	170	1	varscan-mutect	HACE1,splice_donor_variant,,ENST00000262903,NM_001321083.1,NM_020771.3;HACE1,splice_donor_variant,,ENST00000369125,;HACE1,splice_donor_variant,,ENST00000518503,;HACE1,upstream_gene_variant,,ENST00000517995,;HACE1,splice_donor_variant,,ENST00000369127,;HACE1,splice_donor_variant,,ENST00000416605,;HACE1,splice_donor_variant,,ENST00000517424,;	T	ENST00000262903	Transcript	splice_donor_variant	-/4576	1566/2730	522/909				1		-1	HACE1	HGNC	HGNC:21033	protein_coding	YES	CCDS5050.1	ENSP00000262903	Q8IYU2		UPI00001602DC	NM_001321083.1,NM_020771.3				14/23																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	103	104784084	104784084	A	T	1	0	0	0	0	0	0	1	0	6826	405	14	4		4	HACE1	6	104784084	Splice_Site	SNP	A	C3N-02572_TP		104784084	66021895	13	31642											
FNDC1	0	.	GRCh38	chr6	159233306	159233306	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagagaaccccaaatccAcaggggcagatacacatcct	14	5	7	15	0	0	2	0	0	0	2	3	3	3	2	5	2	2	1	5	2	3	1	novel		C3N-02572_TP	C3N-02572_NB	A	A																c.2794A>T	p.Thr932Ser	p.T932S	ENST00000297267	11/23	373	338	35	230	230	0	strelka-varscan-mutect	FNDC1,missense_variant,p.Thr932Ser,ENST00000297267,NM_032532.2;FNDC1,missense_variant,p.Thr828Ser,ENST00000329629,;	T	ENST00000297267	Transcript	missense_variant	2994/6552	2794/5685	932/1894	T/S	Aca/Tca		1		1	FNDC1	HGNC	HGNC:21184	protein_coding	YES	CCDS47512.1	ENSP00000297267	Q4ZHG4		UPI0000579B80	NM_032532.2	tolerated_low_confidence(0.33)		11/23		hmmpanther:PTHR23197,hmmpanther:PTHR23197:SF8																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	103	159233306	159233306	A	T	1	0	0	0	0	1	0	0	0	5824	159	6	4		4	FNDC1	6	159233306	Missense_Mutation	SNP	A	C3N-02572_TP	54449222	159233306	11572673	14	31643											
ETV1	0	.	GRCh38	chr7	13909636	13909636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagtgtaaaacctaccatcGaatttttctgggacaacaca	16	10	6	9	1	1	0	0	0	1	0	2	2	1	1	2	1	3	1	2	1	6	4	rs765227604		C3N-02572_TP	C3N-02572_NB	G	G																c.936C>T	p.=	p.F312F	ENST00000430479	11/14	121	111	10	158	158	0	strelka-varscan	ETV1,synonymous_variant,p.=,ENST00000430479,NM_004956.4;ETV1,synonymous_variant,p.=,ENST00000242066,NM_001163148.1;ETV1,synonymous_variant,p.=,ENST00000420159,NM_001163151.1;ETV1,synonymous_variant,p.=,ENST00000399357,NM_001163152.1;ETV1,synonymous_variant,p.=,ENST00000405192,NM_001163147.1;ETV1,synonymous_variant,p.=,ENST00000405358,;ETV1,synonymous_variant,p.=,ENST00000405218,;ETV1,synonymous_variant,p.=,ENST00000403527,NM_001163150.1;ETV1,synonymous_variant,p.=,ENST00000403685,NM_001163149.1;ETV1,synonymous_variant,p.=,ENST00000438956,;ETV1,downstream_gene_variant,,ENST00000443608,;ETV1,downstream_gene_variant,,ENST00000476720,;ETV1,synonymous_variant,p.=,ENST00000443137,;ETV1,non_coding_transcript_exon_variant,,ENST00000472931,;ETV1,upstream_gene_variant,,ENST00000493831,;	A	ENST00000430479	Transcript	synonymous_variant	1604/6740	936/1434	312/477	F	ttC/ttT	rs765227604,COSM1086161,COSM1596796	1		-1	ETV1	HGNC	HGNC:3490	protein_coding	YES	CCDS55088.1	ENSP00000405327	P50549		UPI000012A26E	NM_004956.4			11/14		Gene3D:1.10.10.10,Pfam_domain:PF04621,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF210											0,1,1						LOW	1	SNV	1		0,1,1	1										PASS		.	.												A	2	1	103	13909636	13909636	G	A	1	0	0	0	0	0	0	0	1	5141	1072	37	1		1	ETV1	7	13909636	Silent	SNP	G	C3N-02572_TP		13909636	145436337	15	31644											
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcacagattttgggcTggccaaactgctgggtgcgg	9	9	14	9	1	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	2	2	rs121434568		C3N-02572_TP	C3N-02572_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	618	390	228	380	380	0	strelka-varscan	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												G	3	3	103	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3N-02572_TP	41282186	55191822	104154151	16	31645											
TRRAP	0	.	GRCh38	chr7	98933379	98933379	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatggaccttaacgtggtgGagcataaggtgttctacaca	12	10	11	8	1	1	0	0	0	1	0	1	2	1	2	1	4	3	2	1	4	4	4	novel		C3N-02572_TP	C3N-02572_NB	G	G																c.3991G>T	p.Glu1331Ter	p.E1331*	ENST00000359863	27/72	151	143	8	92	92	0	strelka-varscan	TRRAP,stop_gained,p.Glu1331Ter,ENST00000359863,NM_001244580.1;TRRAP,stop_gained,p.Glu1330Ter,ENST00000628380,;TRRAP,stop_gained,p.Glu1331Ter,ENST00000355540,NM_003496.3;TRRAP,stop_gained,p.Glu1330Ter,ENST00000446306,;TRRAP,stop_gained,p.Glu1046Ter,ENST00000456197,;	T	ENST00000359863	Transcript	stop_gained	4200/12677	3991/11580	1331/3859	E/*	Gag/Tag		1		1	TRRAP	HGNC	HGNC:12347	protein_coding	YES	CCDS59066.1	ENSP00000352925	Q9Y4A5		UPI00004575B4	NM_001244580.1			27/72		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	103	98933379	98933379	G	T	1	0	0	0	0	0	1	0	0	17107	1175	41	2		2	TRRAP	7	98933379	Nonsense_Mutation	SNP	G	C3N-02572_TP	43741557	98933379	60412594	17	31646											
TJP2	0	.	GRCh38	chr9	69205220	69205220	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgttaaaaagttgaggaGatggaaaggccgtgtgagtc	12	9	16	4	1	0	3	0	2	0	1	1	5	0	4	1	4	0	3	1	4	4	2	novel		C3N-02572_TP	C3N-02572_NB	G	G																c.59G>C	p.Arg20Thr	p.R20T	ENST00000539225	1/23	201	190	11	197	197	0	strelka-mutect	TJP2,missense_variant,p.Arg20Thr,ENST00000535702,NM_001170415.1;TJP2,missense_variant,p.Arg20Thr,ENST00000539225,NM_001170416.1;TJP2,intron_variant,,ENST00000636438,;TJP2,intron_variant,,ENST00000377245,NM_004817.3;TJP2,intron_variant,,ENST00000453658,NM_001170414.2;TJP2,intron_variant,,ENST00000348208,NM_201629.3;AL358113.1,intron_variant,,ENST00000265384,NM_001170630.1;TJP2,intron_variant,,ENST00000423935,;TJP2,intron_variant,,ENST00000606364,;TJP2,intron_variant,,ENST00000636247,;TJP2,intron_variant,,ENST00000377259,;	C	ENST00000539225	Transcript	missense_variant	59/3838	59/3666	20/1221	R/T	aGa/aCa		1		1	TJP2	HGNC	HGNC:11828	protein_coding	YES	CCDS55316.1	ENSP00000438262	Q9UDY2		UPI0001C0B37F	NM_001170416.1	tolerated_low_confidence(0.68)		1/23																			MODERATE		SNV	2			1										PASS		rs1200954763	.												C	3	2	103	69205220	69205220	G	C	1	0	0	0	0	1	0	0	0	16372	942	33	4		4	TJP2	9	69205220	Missense_Mutation	SNP	G	C3N-02572_TP		69205220	69189497	18	31647											
ABHD17B	0	.	GRCh38	chr9	71866990	71866991	+	Frame_Shift_Ins	INS	-	-	A																															aatactggagaggttatcttINSagagattttgtcaatgctgc																								novel		C3N-02572_TP	C3N-02572_NB	-	-																c.663dupT	p.Lys222Ter	p.K222*	ENST00000377041	4/5	90	70	20	139	139	0	sindel-varindel-pindel	ABHD17B,frameshift_variant,p.Lys222Ter,ENST00000333421,NM_001025780.1;ABHD17B,frameshift_variant,p.Lys222Ter,ENST00000377041,NM_016014.2;	A	ENST00000377041	Transcript	frameshift_variant	964-965/1312	663-664/882	221-222/293	-/X	-/T		1		-1	ABHD17B	HGNC	HGNC:24278	protein_coding	YES	CCDS35042.1	ENSP00000366240	Q5VST6		UPI0000210B1F	NM_016014.2			4/5		Gene3D:3.40.50.1820,hmmpanther:PTHR12277,hmmpanther:PTHR12277:SF48,Superfamily_domains:SSF53474																	HIGH	1	insertion	1			1										PASS		.	.												A	7	5	103	71866990	71866990	-	A	1	0	1	1	0	0	0	0	0	89	1763	61	0		0	ABHD17B	9	71866990	Frame_Shift_Ins	INS	-	C3N-02572_TP	2661770	71866990	66527727	19	31648											
SECISBP2	0	.	GRCh38	chr9	89358012	89358012	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccaaggatcagttccacaAgatggttgagctgacagtgg	11	8	13	9	0	1	3	1	2	0	1	2	4	2	4	2	3	1	3	2	3	2	2	novel		C3N-02572_TP	C3N-02572_NB	A	A																c.2282A>G	p.Lys761Arg	p.K761R	ENST00000375807	16/17	687	603	84	410	409	1	strelka-varscan-mutect	SECISBP2,missense_variant,p.Lys693Arg,ENST00000534113,NM_001282690.1;SECISBP2,missense_variant,p.Lys761Arg,ENST00000375807,NM_001282688.1,NM_024077.4;SECISBP2,missense_variant,p.Lys688Arg,ENST00000339901,NM_001282689.1;SEMA4D,downstream_gene_variant,,ENST00000420987,NM_001142287.1;SEMA4D,downstream_gene_variant,,ENST00000339861,;SEMA4D,downstream_gene_variant,,ENST00000455551,;SEMA4D,downstream_gene_variant,,ENST00000420101,;SECISBP2,non_coding_transcript_exon_variant,,ENST00000496597,;SECISBP2,non_coding_transcript_exon_variant,,ENST00000498819,;SEMA4D,downstream_gene_variant,,ENST00000469653,;SEMA4D,downstream_gene_variant,,ENST00000475255,;SEMA4D,downstream_gene_variant,,ENST00000429836,;SEMA4D,downstream_gene_variant,,ENST00000537934,;SEMA4D,downstream_gene_variant,,ENST00000492386,;	G	ENST00000375807	Transcript	missense_variant	2353/3462	2282/2565	761/854	K/R	aAg/aGg		1		1	SECISBP2	HGNC	HGNC:30972	protein_coding	YES	CCDS6683.1	ENSP00000364965	Q96T21		UPI00001AEA0A	NM_001282688.1,NM_024077.4	tolerated(0.63)		16/17		hmmpanther:PTHR13284,hmmpanther:PTHR13284:SF9,Gene3D:3.30.1330.30,Superfamily_domains:SSF55315																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	103	89358012	89358012	A	G	1	0	0	0	0	1	0	0	0	14283	72	3	5		5	SECISBP2	9	89358012	Missense_Mutation	SNP	A	C3N-02572_TP	17491022	89358012	49036705	20	31649											
CCDC183	0	.	GRCh38	chr9	136799217	136799217	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggactgggctttggcCaagaaggtacacaaacgccg	11	5	13	12	2	0	1	0	0	0	1	0	2	0	2	3	4	2	2	3	4	4	2	novel		C3N-02572_TP	C3N-02572_NB	C	C																c.186C>T	p.=	p.A62A	ENST00000338005	2/14	84	79	5	55	55	0	strelka-mutect	CCDC183,synonymous_variant,p.=,ENST00000338005,NM_001039374.4;CCDC183-AS1,downstream_gene_variant,,ENST00000414656,;CCDC183,non_coding_transcript_exon_variant,,ENST00000371682,;CCDC183,synonymous_variant,p.=,ENST00000479371,;RP11-216L13.17,3_prime_UTR_variant,,ENST00000456614,;RP11-216L13.19,upstream_gene_variant,,ENST00000415992,;CCDC183,upstream_gene_variant,,ENST00000430612,;CCDC183,upstream_gene_variant,,ENST00000481601,;CCDC183,upstream_gene_variant,,ENST00000609471,;RP11-216L13.18,upstream_gene_variant,,ENST00000471502,;	T	ENST00000338005	Transcript	synonymous_variant	221/1671	186/1605	62/534	A	gcC/gcT		1		1	CCDC183	HGNC	HGNC:28236	protein_coding	YES	CCDS43906.1	ENSP00000338013	Q5T5S1		UPI00015E02CD	NM_001039374.4			2/14		hmmpanther:PTHR21694,hmmpanther:PTHR21694:SF16																	LOW	1	SNV	1			1										PASS		rs776454199	.												T	2	4	103	136799217	136799217	C	T	1	0	0	0	0	0	0	0	1	2499	581	21	3		3	CCDC183	9	136799217	Silent	SNP	C	C3N-02572_TP	47441205	136799217	1595500	21	31650											
CACNA1B	0	.	GRCh38	chr9	138118755	138118755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccatgccccgccttgCggccgagactcaggtaggtg	5	7	14	15	3	1	1	1	0	0	1	2	2	2	1	6	4	2	1	6	4	1	2	rs202011106		C3N-02572_TP	C3N-02572_NB	C	C																c.6017C>T	p.Ala2006Val	p.A2006V	ENST00000371372	44/47	185	167	18	120	120	0	strelka-varscan-mutect	CACNA1B,missense_variant,p.Ala2006Val,ENST00000371372,NM_000718.3;CACNA1B,missense_variant,p.Ala2004Val,ENST00000371363,;CACNA1B,missense_variant,p.Ala2007Val,ENST00000371355,;CACNA1B,missense_variant,p.Ala2005Val,ENST00000371357,;CACNA1B,missense_variant,p.Ala2006Val,ENST00000277549,;CACNA1B,missense_variant,p.Ala2006Val,ENST00000277551,NM_001243812.1;	T	ENST00000371372	Transcript	missense_variant	6162/9790	6017/7020	2006/2339	A/V	gCg/gTg	rs202011106,COSM3089979,COSM4372840	1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3	tolerated(0.11)		44/47		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF161											0,1,1						MODERATE	1	SNV	5		0,1,1	1										PASS		rs202011106	.												T	3	4	103	138118755	138118755	C	T	1	0	0	0	0	1	0	0	0	2227	768	27	1		1	CACNA1B	9	138118755	Missense_Mutation	SNP	C	C3N-02572_TP	1319538	138118755	275962	22	31651											
EBLN1	0	.	GRCh38	chr10	22208993	22208993	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttgaagtacagggaatgTaatagttgatcctggtataa	14	13	10	4	0	0	2	0	2	0	0	1	3	1	3	1	2	1	4	1	2	7	7	novel		C3N-02572_TP	C3N-02572_NB	T	T																c.991A>T	p.Thr331Ser	p.T331S	ENST00000422359	1/1	104	93	11	186	186	0	strelka-varscan-mutect	EBLN1,missense_variant,p.Thr331Ser,ENST00000422359,NM_001199938.1;	A	ENST00000422359	Transcript	missense_variant	1029/1208	991/1101	331/366	T/S	Aca/Tca		1		-1	EBLN1	HGNC	HGNC:39430	protein_coding	YES	CCDS60498.1	ENSP00000473842	P0CF75		UPI0000199CEF	NM_001199938.1	tolerated_low_confidence(0.56)		1/1		Gene3D:1n93X02,Pfam_domain:PF06407,Superfamily_domains:0041272																	MODERATE	1	SNV				1										PASS		.	.												A	3	1	103	22208993	22208993	T	A	1	0	0	0	0	1	0	0	0	4709	1638	57	4		4	EBLN1	10	22208993	Missense_Mutation	SNP	T	C3N-02572_TP		22208993	111588429	23	31652											
ARHGAP21	0	.	GRCh38	chr10	24591908	24591908	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggatgagcgtttctacAatcttgtactggtcaggcat	8	14	11	8	1	3	1	1	1	2	0	3	2	3	2	0	3	4	4	0	3	3	4	rs780878754		C3N-02572_TP	C3N-02572_NB	A	A																c.3981T>C	p.=	p.I1327I	ENST00000396432	22/26	36	31	5	55	55	0	varscan-mutect	ARHGAP21,synonymous_variant,p.=,ENST00000396432,NM_020824.3;ARHGAP21,synonymous_variant,p.=,ENST00000612832,;ARHGAP21,synonymous_variant,p.=,ENST00000320481,;ARHGAP21,synonymous_variant,p.=,ENST00000636789,;ARHGAP21,synonymous_variant,p.=,ENST00000418033,;ARHGAP21,downstream_gene_variant,,ENST00000446003,;ARHGAP21,downstream_gene_variant,,ENST00000376410,;ARHGAP21,downstream_gene_variant,,ENST00000418325,;ARHGAP21,synonymous_variant,p.=,ENST00000638156,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000486374,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000482792,;ARHGAP21,upstream_gene_variant,,ENST00000477190,;	G	ENST00000396432	Transcript	synonymous_variant	4468/7167	3981/5877	1327/1958	I	atT/atC	rs780878754,COSM1128080	1		-1	ARHGAP21	HGNC	HGNC:23725	protein_coding	YES	CCDS7144.2	ENSP00000379709	Q5T5U3		UPI0001639C78	NM_020824.3			22/26		PROSITE_profiles:PS50238,hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350											0,1						LOW	1	SNV	1		0,1	1										PASS		rs780878754	.												G	2	3	103	24591908	24591908	A	G	1	0	0	0	0	0	0	0	1	995	126	5	5		5	ARHGAP21	10	24591908	Silent	SNP	A	C3N-02572_TP	2382915	24591908	109205514	24	31653											
OR5T3	0	.	GRCh38	chr11	56252751	56252751	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctacgttgctggcattttAcatgctactatacatatagt	10	16	6	9	1	0	0	0	0	0	0	1	0	1	0	1	1	6	4	1	1	7	9			C3N-02572_TP	C3N-02572_NB	A	A																c.552A>G	p.=	p.L184L	ENST00000303059	1/1	78	69	9	189	189	0	strelka-varscan-mutect	OR5T3,synonymous_variant,p.=,ENST00000303059,NM_001004747.1;	G	ENST00000303059	Transcript	synonymous_variant	552/1023	552/1023	184/340	L	ttA/ttG	COSM5144313	1		1	OR5T3	HGNC	HGNC:15297	protein_coding	YES	CCDS31524.1	ENSP00000305403	Q8NGG3		UPI0000061E96	NM_001004747.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											1						LOW	1	SNV			1	1										PASS		.	.												G	2	3	103	56252751	56252751	A	G	1	0	0	0	0	0	0	0	1	11251	388	14	5		5	OR5T3	11	56252751	Silent	SNP	A	C3N-02572_TP		56252751	78833871	25	31654											
ACY3	0	.	GRCh38	chr11	67645758	67645758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcgattaagcaggtgccCatgttggccgtggtgttgtg	5	13	15	8	3	0	0	0	0	0	0	1	1	0	0	2	3	2	3	2	3	1	4	novel		C3N-02572_TP	C3N-02572_NB	C	C																c.366G>C	p.Met122Ile	p.M122I	ENST00000255082	4/8	188	171	17	112	112	0	strelka-varscan-mutect	ACY3,start_lost,p.Met1?,ENST00000529256,;ACY3,missense_variant,p.Met122Ile,ENST00000255082,NM_080658.1;	G	ENST00000255082	Transcript	missense_variant	537/1300	366/960	122/319	M/I	atG/atC		1		-1	ACY3	HGNC	HGNC:24104	protein_coding	YES	CCDS8175.1	ENSP00000255082	Q96HD9	A0A024R5L2	UPI0000073C5C	NM_080658.1	deleterious(0.01)		4/8		HAMAP:MF_00704,hmmpanther:PTHR15162:SF5,hmmpanther:PTHR15162,Pfam_domain:PF04952,PIRSF_domain:PIRSF018001,Gene3D:3.40.630.10,Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	103	67645758	67645758	C	G	1	0	0	0	0	1	0	0	0	271	594	21	4		4	ACY3	11	67645758	Missense_Mutation	SNP	C	C3N-02572_TP	11393007	67645758	67440864	26	31655											
CRACR2A	0	.	GRCh38	chr12	3696985	3696985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctggagactaccctcccGtcaggggcagccatcgcgat	7	7	13	14	3	2	1	1	0	1	1	4	3	3	1	3	4	2	1	3	4	1	1	rs148897271		C3N-02572_TP	C3N-02572_NB	G	G																c.15C>A	p.Asp5Glu	p.D5E	ENST00000440314	4/20	180	168	12	111	111	0	strelka-varscan-mutect	CRACR2A,missense_variant,p.Asp5Glu,ENST00000440314,NM_001144958.1;CRACR2A,missense_variant,p.Asp5Glu,ENST00000252322,NM_032680.3;	T	ENST00000440314	Transcript	missense_variant	489/2697	15/2196	5/731	D/E	gaC/gaA	rs148897271	1		-1	CRACR2A	HGNC	HGNC:28657	protein_coding	YES	CCDS44803.1	ENSP00000409382	Q9BSW2		UPI00017A8807	NM_001144958.1	tolerated_low_confidence(0.24)		4/20		hmmpanther:PTHR22621:SF2,hmmpanther:PTHR22621																	MODERATE	1	SNV	2			1										PASS		rs148897271	.												T	3	4	103	3696985	3696985	G	T	1	0	0	0	0	1	0	0	0	3643	1136	40	1		1	CRACR2A	12	3696985	Missense_Mutation	SNP	G	C3N-02572_TP		3696985	129578324	27	31656											
RB1	0	.	GRCh38	chr13	48476728	48476728	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagttccagaaaataaatCagatggtatgtaacagcgac	18	8	9	6	1	1	3	1	0	0	3	2	4	2	3	1	1	2	3	1	1	7	4			C3N-02572_TP	C3N-02572_NB	C	C																c.2548C>T	p.Gln850Ter	p.Q850*	ENST00000267163	25/27	80	71	9	230	227	3	strelka-varscan-mutect	RB1,stop_gained,p.Gln850Ter,ENST00000267163,NM_000321.2;RB1,non_coding_transcript_exon_variant,,ENST00000484879,;RB1,non_coding_transcript_exon_variant,,ENST00000531171,;	T	ENST00000267163	Transcript	stop_gained	2686/4840	2548/2787	850/928	Q/*	Cag/Tag	COSM1300235,COSM13404	1		1	RB1	HGNC	HGNC:9884	protein_coding	YES	CCDS31973.1	ENSP00000267163	P06400	A0A024RDV3	UPI0000001C79	NM_000321.2			25/27		Pfam_domain:PF08934,hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF21,SMART_domains:SM01369											1,1						HIGH	1	SNV	1		1,1	1										PASS		rs886042935	.												T	4	4	103	48476728	48476728	C	T	1	0	0	0	0	0	1	0	0	13259	827	29	3		3	RB1	13	48476728	Nonsense_Mutation	SNP	C	C3N-02572_TP		48476728	65887600	28	31657											
DCT	0	.	GRCh38	chr13	94478978	94478978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgcacttgcaggtcCggtggaagaattttcttggc	7	12	12	10	1	1	1	0	0	1	1	2	2	2	2	2	4	2	2	2	4	2	4	rs151208955		C3N-02572_TP	C3N-02572_NB	C	C																c.278G>T	p.Arg93Leu	p.R93L	ENST00000446125	1/10	142	132	10	62	62	0	strelka-varscan-mutect	DCT,missense_variant,p.Arg93Leu,ENST00000377028,NM_001922.3;DCT,missense_variant,p.Arg93Leu,ENST00000446125,NM_001129889.1;DCT,non_coding_transcript_exon_variant,,ENST00000472871,;	A	ENST00000446125	Transcript	missense_variant	705/2395	278/1659	93/552	R/L	cGg/cTg	rs151208955	1		-1	DCT	HGNC	HGNC:2709	protein_coding	YES	CCDS45060.1	ENSP00000392762	P40126		UPI0000E13F02	NM_001129889.1	deleterious(0)		1/10		Gene3D:1.10.1280.10,hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF4,Superfamily_domains:SSF48056																	MODERATE	1	SNV	1			1										PASS		rs151208955	.												A	3	1	103	94478978	94478978	C	A	1	0	0	0	0	1	0	0	0	4107	652	23	1		1	DCT	13	94478978	Missense_Mutation	SNP	C	C3N-02572_TP	46002250	94478978	19885350	29	31658											
TUBGCP3	0	.	GRCh38	chr13	112527377	112527377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atctcttctaatcctaccttCctagactgatccatcgtcat	9	15	3	14	1	3	2	1	1	2	1	8	2	6	2	4	0	1	0	4	0	3	5	novel		C3N-02572_TP	C3N-02572_NB	C	C																c.1443G>A	p.=	p.R481R	ENST00000261965	12/22	37	32	5	35	35	0	varscan-mutect	TUBGCP3,synonymous_variant,p.=,ENST00000261965,NM_006322.5,NM_001286277.1;TUBGCP3,synonymous_variant,p.=,ENST00000375669,NM_001286278.1;TUBGCP3,non_coding_transcript_exon_variant,,ENST00000462580,;	T	ENST00000261965	Transcript	synonymous_variant	1630/3899	1443/2724	481/907	R	agG/agA		1		-1	TUBGCP3	HGNC	HGNC:18598	protein_coding	YES	CCDS9525.1	ENSP00000261965	Q96CW5		UPI000000DB88	NM_006322.5,NM_001286277.1			12/22		Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF14																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	103	112527377	112527377	C	T	1	0	0	0	0	0	0	0	1	17277	869	30	3		3	TUBGCP3	13	112527377	Silent	SNP	C	C3N-02572_TP	18048399	112527377	1836951	30	31659											
SYNE2	0	.	GRCh38	chr14	64010106	64010106	+	Missense_Mutation	SNP	G	G	A																															aaaggagaacctgaagaaaaGgatagcagaggtgagtccag																								novel		C3N-02572_TP	C3N-02572_NB	G	G																c.4718G>A	p.Arg1573Lys	p.R1573K	ENST00000358025	32/116	219	207	12	390	390	0	strelka-varscan-mutect	SYNE2,missense_variant,p.Arg1573Lys,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Arg1573Lys,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Arg1573Lys,ENST00000357395,;SYNE2,missense_variant,p.Arg1573Lys,ENST00000554584,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557005,;	A	ENST00000358025	Transcript	missense_variant	4930/21842	4718/20724	1573/6907	R/K	aGg/aAg		1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2	tolerated(0.62)		32/116		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF317,hmmpanther:PTHR11915																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	103	64010106	64010106	G	A	1	0	0	0	0	1	0	0	0	15838	1000	35	3		3	SYNE2	14	64010106	Missense_Mutation	SNP	G	C3N-02572_TP		64010106	43033612	31	31660	646	2									
SYNE2	0	.	GRCh38	chr14	64010107	64010107	+	Silent	SNP	G	G	A																															aaggagaacctgaagaaaagGatagcagaggtgagtccagg																								novel		C3N-02572_TP	C3N-02572_NB	G	G																c.4719G>A	p.=	p.R1573R	ENST00000358025	32/116	223	210	13	391	391	0	strelka-varscan-mutect	SYNE2,synonymous_variant,p.=,ENST00000358025,NM_182914.2;SYNE2,synonymous_variant,p.=,ENST00000344113,NM_015180.4;SYNE2,synonymous_variant,p.=,ENST00000357395,;SYNE2,synonymous_variant,p.=,ENST00000554584,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557005,;	A	ENST00000358025	Transcript	synonymous_variant	4931/21842	4719/20724	1573/6907	R	agG/agA		1		1	SYNE2	HGNC	HGNC:17084	protein_coding	YES	CCDS9761.2	ENSP00000350719	Q8WXH0		UPI00003677E5	NM_182914.2			32/116		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF317,hmmpanther:PTHR11915																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	103	64010107	64010107	G	A	1	0	0	0	0	0	0	0	1	15838	1165	41	3		3	SYNE2	14	64010107	Silent	SNP	G	C3N-02572_TP	1	64010107	43033611	32	31661	646	2									
UNC13C	0	.	GRCh38	chr15	54015624	54015624	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaatgcaagcatatgatcaCctttcatatgaaacacctta	16	11	4	10	0	2	2	2	2	0	0	2	2	2	2	2	0	3	2	2	0	6	4	novel		C3N-02572_TP	C3N-02572_NB	C	C																c.2721C>T	p.=	p.H907H	ENST00000260323	1/32	38	27	11	99	99	0	strelka-varscan-mutect	UNC13C,synonymous_variant,p.=,ENST00000260323,NM_001080534.1;	T	ENST00000260323	Transcript	synonymous_variant	2721/12946	2721/6645	907/2214	H	caC/caT		1		1	UNC13C	HGNC	HGNC:23149	protein_coding	YES	CCDS45264.1	ENSP00000260323	Q8NB66		UPI0000DD82AB	NM_001080534.1			1/32		hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	103	54015624	54015624	C	T	1	0	0	0	0	0	0	0	1	17510	506	18	3		3	UNC13C	15	54015624	Silent	SNP	C	C3N-02572_TP		54015624	47975565	33	31662											
FSD2	0	.	GRCh38	chr15	82782944	82782944	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcccctagagcttgtatttTttcctcatatttttgagcaa	8	18	5	10	0	1	2	1	1	0	1	3	2	3	2	3	0	2	3	3	0	4	9	novel		C3N-02572_TP	C3N-02572_NB	T	T																c.817A>G	p.Lys273Glu	p.K273E	ENST00000334574	4/13	150	118	32	254	253	1	strelka-varscan-mutect	FSD2,missense_variant,p.Lys273Glu,ENST00000334574,NM_001007122.3;FSD2,missense_variant,p.Lys273Glu,ENST00000541889,NM_001281806.1,NM_001281805.1;FSD2,downstream_gene_variant,,ENST00000561368,;	C	ENST00000334574	Transcript	missense_variant	999/6418	817/2250	273/749	K/E	Aaa/Gaa		1		-1	FSD2	HGNC	HGNC:18024	protein_coding	YES	CCDS45332.1	ENSP00000335651	A1L4K1		UPI0000161097	NM_001007122.3	deleterious(0)		4/13		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF6																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	103	82782944	82782944	T	C	1	0	0	0	0	1	0	0	0	5945	1850	64	5		5	FSD2	15	82782944	Missense_Mutation	SNP	T	C3N-02572_TP	28767320	82782944	19208245	34	31663											
ABCA3	0	.	GRCh38	chr16	2308543	2308544	+	In_Frame_Ins	INS	-	-	GTT																															ttctggctcagagtcatccaINSgttgtaccgaggggccacga																								novel		C3N-02572_TP	C3N-02572_NB	-	-																c.1189_1191dupAAC	p.Asn397dup	p.N397dup	ENST00000301732	11/33	452	253	199	350	350	0	sindel-varindel-pindel	ABCA3,inframe_insertion,p.Asn397dup,ENST00000301732,NM_001089.2;ABCA3,intron_variant,,ENST00000382381,;ABCA3,non_coding_transcript_exon_variant,,ENST00000563623,;	GTT	ENST00000301732	Transcript	inframe_insertion	1892-1893/6609	1191-1192/5115	397-398/1704	-/N	-/AAC		1		-1	ABCA3	HGNC	HGNC:33	protein_coding	YES	CCDS10466.1	ENSP00000301732	Q99758		UPI0000001232	NM_001089.2			11/33		Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98																	MODERATE	1	insertion	1			1										PASS		.	.												GTT	7	5	103	2308543	2308543	-	GTT	1	0	1	1	0	0	0	0	0	37	188	7	0		0	ABCA3	16	2308543	In_Frame_Ins	INS	-	C3N-02572_TP		2308543	88029802	35	31664			2	35		3	2	31	N	GTAGGGGAT_G_-	4.759837e-05
ABCA3	0	.	GRCh38	chr16	2308568	2308576	+	In_Frame_Del	DEL	GTAGGGGAT	GTAGGGGAT	-																															taccgaggggccacgaagaaGtaggggatgtaggtgaagaa																								novel		C3N-02572_TP	C3N-02572_NB	GTAGGGGAT	GTAGGGGAT																c.1159_1167delATCCCCTAC	p.Ile387_Tyr389del	p.I387_Y389del	ENST00000301732	11/33	464	291	173	380	380	0	sindel-varindel-pindel	ABCA3,inframe_deletion,p.Ile387_Tyr389del,ENST00000301732,NM_001089.2;ABCA3,intron_variant,,ENST00000382381,;ABCA3,non_coding_transcript_exon_variant,,ENST00000563623,;	-	ENST00000301732	Transcript	inframe_deletion	1860-1868/6609	1159-1167/5115	387-389/1704	IPY/-	ATCCCCTAC/-		1		-1	ABCA3	HGNC	HGNC:33	protein_coding	YES	CCDS10466.1	ENSP00000301732	Q99758		UPI0000001232	NM_001089.2			11/33		Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98,Transmembrane_helices:TMhelix																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	103	2308568	2308568	GTAGGGGAT	-	1	0	1	0	1	0	0	0	0	37	1024	36	0		0	ABCA3	16	2308568	In_Frame_Del	DEL	GTAGGGGAT	C3N-02572_TP	25	2308568	88029777	36	31665	647	2	2	35		3	2	31	N	GTAGGGGAT_G_-	4.759837e-05
ABCA3	0	.	GRCh38	chr16	2308573	2308573	+	Missense_Mutation	SNP	G	G	T																															aggggccacgaagaagtaggGgatgtaggtgaagaagtaga																								novel		C3N-02572_TP	C3N-02572_NB	G	G																c.1162C>A	p.Pro388Thr	p.P388T	ENST00000301732	11/33	289	273	16	331	330	1	varscan-mutect	ABCA3,missense_variant,p.Pro388Thr,ENST00000301732,NM_001089.2;ABCA3,intron_variant,,ENST00000382381,;ABCA3,non_coding_transcript_exon_variant,,ENST00000563623,;	T	ENST00000301732	Transcript	missense_variant	1863/6609	1162/5115	388/1704	P/T	Ccc/Acc		1		-1	ABCA3	HGNC	HGNC:33	protein_coding	YES	CCDS10466.1	ENSP00000301732	Q99758		UPI0000001232	NM_001089.2	deleterious(0)		11/33		Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	103	2308573	2308573	G	T	1	0	0	0	0	1	0	0	0	37	1232	43	2		2	ABCA3	16	2308573	Missense_Mutation	SNP	G	C3N-02572_TP	5	2308573	88029772	37	31666	647	2	2	35		3	2	31	N	GTAGGGGAT_G_-	4.759837e-05
TP53	0	.	GRCh38	chr17	7674241	7674241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggttcatgccgcccatgcagGaactgttacacatgtagttg	9	11	11	10	1	1	0	1	0	0	0	1	1	1	1	2	2	4	5	2	2	3	4	rs28934573		C3N-02572_TP	C3N-02572_NB	G	G																c.722C>T	p.Ser241Phe	p.S241F	ENST00000269305	7/11	315	211	104	297	297	0	strelka-varscan-mutect	TP53,missense_variant,p.Ser241Phe,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Ser241Phe,ENST00000420246,;TP53,missense_variant,p.Ser202Phe,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Ser202Phe,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Ser241Phe,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Ser202Phe,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Ser241Phe,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Ser202Phe,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Ser241Phe,ENST00000445888,;TP53,missense_variant,p.Ser202Phe,ENST00000619485,;TP53,missense_variant,p.Ser109Phe,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Ser82Phe,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Ser109Phe,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Ser82Phe,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Ser109Phe,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Ser82Phe,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Ser241Phe,ENST00000359597,;TP53,missense_variant,p.Ser230Phe,ENST00000615910,;TP53,missense_variant,p.Ser241Phe,ENST00000413465,;TP53,missense_variant,p.Ser109Phe,ENST00000509690,;TP53,missense_variant,p.Ser148Phe,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Ser202Phe,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	912/2579	722/1182	241/393	S/F	tCc/tTc	rs28934573,CM920673,TP53_g.13359C>A,TP53_g.13359del,TP53_g.13359C>T,TP53_g.13359C>G,COSM10709,COSM10812,COSM10935,COSM1230110,COSM1230111,COSM1230112,COSM1649402,COSM214170,COSM214171,COSM214172,COSM2744619,COSM2744620,COSM3362448,COSM3522695,COSM3712577,COSM437501,COSM437502,COSM437503,COSM44657	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										likely_pathogenic,pathogenic	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	2510566021264207					MODERATE	1	SNV	1		1,1,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs28934573	.												A	3	1	103	7674241	7674241	G	A	1	0	0	0	0	1	0	0	0	16859	1174	41	3		3	TP53	17	7674241	Missense_Mutation	SNP	G	C3N-02572_TP		7674241	75583200	38	31667											
TRIM37	0	.	GRCh38	chr17	59056968	59056968	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatagccccagcattctccaActtcaaagtcagatgcaaat	14	10	5	12	0	3	1	2	0	1	1	4	1	3	1	3	0	4	2	3	0	5	4	novel		C3N-02572_TP	C3N-02572_NB	A	A																c.1106T>C	p.Val369Ala	p.V369A	ENST00000262294	13/24	125	118	7	189	189	0	strelka-varscan-mutect	TRIM37,missense_variant,p.Val369Ala,ENST00000262294,NM_015294.3;TRIM37,missense_variant,p.Val369Ala,ENST00000393066,NM_001005207.2;TRIM37,missense_variant,p.Val335Ala,ENST00000393065,;TRIM37,downstream_gene_variant,,ENST00000581468,;RN7SL716P,upstream_gene_variant,,ENST00000580539,;TRIM37,3_prime_UTR_variant,,ENST00000577554,NM_001320990.1;	G	ENST00000262294	Transcript	missense_variant	1366/4330	1106/2895	369/964	V/A	gTt/gCt		1		-1	TRIM37	HGNC	HGNC:7523	protein_coding	YES	CCDS32694.1	ENSP00000262294	O94972		UPI0000167B57	NM_015294.3	tolerated(0.09)		13/24		Gene3D:2.60.210.10,Pfam_domain:PF00917,PROSITE_profiles:PS50144,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF301,SMART_domains:SM00061,Superfamily_domains:SSF49599																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	103	59056968	59056968	A	G	1	0	0	0	0	1	0	0	0	17000	43	2	5		5	TRIM37	17	59056968	Missense_Mutation	SNP	A	C3N-02572_TP	51382727	59056968	24200473	39	31668											
SPHK1	0	.	GRCh38	chr17	76387288	76387288	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcagctggcgtcatgcAtctgttctacgtgcgggcgg	4	11	15	11	4	3	0	1	0	2	0	3	0	3	0	0	3	5	4	0	3	1	2	novel		C3N-02572_TP	C3N-02572_NB	A	A																c.1115A>C	p.His372Pro	p.H372P	ENST00000323374	6/6	249	185	64	132	132	0	strelka-varscan-mutect	SPHK1,missense_variant,p.His286Pro,ENST00000545180,;SPHK1,missense_variant,p.His372Pro,ENST00000323374,NM_182965.2;SPHK1,missense_variant,p.His300Pro,ENST00000590959,NM_021972.3;SPHK1,missense_variant,p.His286Pro,ENST00000592299,NM_001142601.1;SPHK1,missense_variant,p.His286Pro,ENST00000392496,NM_001142602.1;UBE2O,downstream_gene_variant,,ENST00000319380,NM_022066.3;UBE2O,downstream_gene_variant,,ENST00000587127,;PRPSAP1,upstream_gene_variant,,ENST00000442767,;SPHK1,downstream_gene_variant,,ENST00000588682,;SPHK1,downstream_gene_variant,,ENST00000590379,;PRPSAP1,upstream_gene_variant,,ENST00000423915,;SPHK1,downstream_gene_variant,,ENST00000591651,;SPHK1,non_coding_transcript_exon_variant,,ENST00000591762,;SPHK1,downstream_gene_variant,,ENST00000587167,;	C	ENST00000323374	Transcript	missense_variant	1571/2138	1115/1413	372/470	H/P	cAt/cCt		1		1	SPHK1	HGNC	HGNC:11240	protein_coding	YES	CCDS11744.1	ENSP00000313681	Q9NYA1		UPI00001AF3B5	NM_182965.2	deleterious(0)		6/6		hmmpanther:PTHR12358:SF47,hmmpanther:PTHR12358,Superfamily_domains:SSF111331																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	103	76387288	76387288	A	C	1	0	0	0	0	1	0	0	0	15397	217	8	5		5	SPHK1	17	76387288	Missense_Mutation	SNP	A	C3N-02572_TP	17330320	76387288	6870153	40	31669											
CELF4	0	.	GRCh38	chr18	37259223	37259223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctcagcgtccccaaactCctggggcagatggtagatga	10	7	12	12	1	1	3	1	1	0	2	3	3	3	3	3	3	3	3	3	3	2	1	novel		C3N-02572_TP	C3N-02572_NB	C	C																c.1291G>A	p.Glu431Lys	p.E431K	ENST00000420428	11/13	145	119	26	125	125	0	strelka-varscan-mutect	CELF4,missense_variant,p.Glu431Lys,ENST00000420428,NM_020180.3;CELF4,missense_variant,p.Glu429Lys,ENST00000591287,;CELF4,missense_variant,p.Glu430Lys,ENST00000603232,NM_001025087.1;CELF4,missense_variant,p.Glu429Lys,ENST00000361795,NM_001025088.1;CELF4,missense_variant,p.Glu429Lys,ENST00000601019,;CELF4,missense_variant,p.Glu431Lys,ENST00000591282,;CELF4,missense_variant,p.Glu419Lys,ENST00000588597,;CELF4,missense_variant,p.Glu120Lys,ENST00000589386,;CELF4,missense_variant,p.Glu119Lys,ENST00000587657,;CELF4,intron_variant,,ENST00000334919,NM_001025089.1;CELF4,intron_variant,,ENST00000588591,;CELF4,intron_variant,,ENST00000586009,;CELF4,intron_variant,,ENST00000587911,;CELF4,intron_variant,,ENST00000593271,;CELF4,3_prime_UTR_variant,,ENST00000590112,;	T	ENST00000420428	Transcript	missense_variant	1687/4052	1291/1461	431/486	E/K	Gag/Aag		1		-1	CELF4	HGNC	HGNC:14015	protein_coding	YES	CCDS32818.1	ENSP00000410584	Q9BZC1		UPI00000726FC	NM_020180.3	deleterious(0)		11/13		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF462,hmmpanther:PTHR24012,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	103	37259223	37259223	C	T	1	0	0	0	0	1	0	0	0	2925	864	30	3		3	CELF4	18	37259223	Missense_Mutation	SNP	C	C3N-02572_TP		37259223	43114062	41	31670											
AMH	0	.	GRCh38	chr19	2251144	2251144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacccagcgcagaccccttCctggagacgctcacgcgcct	7	5	9	20	4	1	2	1	0	0	2	2	3	2	2	6	1	1	2	6	1	0	1	rs765937994		C3N-02572_TP	C3N-02572_NB	C	C																c.870C>A	p.Phe290Leu	p.F290L	ENST00000221496	5/5	435	391	44	310	309	1	strelka-varscan-mutect	AMH,missense_variant,p.Phe290Leu,ENST00000221496,NM_000479.3;SF3A2,downstream_gene_variant,,ENST00000221494,NM_007165.4;JSRP1,downstream_gene_variant,,ENST00000300961,NM_144616.3;JSRP1,downstream_gene_variant,,ENST00000593238,;SF3A2,downstream_gene_variant,,ENST00000586396,;AMH,downstream_gene_variant,,ENST00000592276,;AMH,downstream_gene_variant,,ENST00000592877,;AMH,non_coding_transcript_exon_variant,,ENST00000589313,;SF3A2,downstream_gene_variant,,ENST00000592314,;SF3A2,downstream_gene_variant,,ENST00000587637,;	A	ENST00000221496	Transcript	missense_variant	892/1821	870/1683	290/560	F/L	ttC/ttA	rs765937994	1		1	AMH	HGNC	HGNC:464	protein_coding	YES	CCDS12085.1	ENSP00000221496	P03971		UPI000013C7D0	NM_000479.3	deleterious(0.05)		5/5		hmmpanther:PTHR15009,Pfam_domain:PF04709,PIRSF_domain:PIRSF037270																	MODERATE	1	SNV	1			1										PASS		rs765937994	.												A	3	1	103	2251144	2251144	C	A	1	0	0	0	0	1	0	0	0	671	854	30	2		2	AMH	19	2251144	Missense_Mutation	SNP	C	C3N-02572_TP		2251144	56366472	42	31671											
FBN3	0	.	GRCh38	chr19	8111074	8111074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaccctggcaggcccggtgGtcctcggtggggtcaaagcc	5	8	15	13	2	1	0	1	0	0	0	3	0	2	0	4	7	2	1	4	7	2	1	novel		C3N-02572_TP	C3N-02572_NB	G	G																c.4194C>G	p.Asp1398Glu	p.D1398E	ENST00000600128	33/64	102	96	6	82	82	0	strelka-varscan-mutect	FBN3,missense_variant,p.Asp1398Glu,ENST00000600128,;FBN3,missense_variant,p.Asp1398Glu,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Asp1398Glu,ENST00000601739,NM_001321431.1;FBN3,non_coding_transcript_exon_variant,,ENST00000594331,;	C	ENST00000600128	Transcript	missense_variant	4609/9362	4194/8430	1398/2809	D/E	gaC/gaG		1		-1	FBN3	HGNC	HGNC:18794	protein_coding	YES	CCDS12196.1	ENSP00000470498	Q75N90		UPI000013D88F		deleterious(0.01)		33/64		PROSITE_profiles:PS50026,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PROSITE_patterns:PS01186,PIRSF_domain:PIRSF036312,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	103	8111074	8111074	G	C	1	0	0	0	0	1	0	0	0	5567	1252	44	4		4	FBN3	19	8111074	Missense_Mutation	SNP	G	C3N-02572_TP	5859930	8111074	50506542	43	31672											
MUC16	0	.	GRCh38	chr19	8956755	8956755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacagcacttttctctGtggatacgatggggtcctgg	8	11	14	8	1	1	0	0	0	1	0	3	4	2	2	1	5	2	1	1	5	2	3	rs188615098		C3N-02572_TP	C3N-02572_NB	G	G																c.20015C>A	p.Thr6672Lys	p.T6672K	ENST00000397910	3/84	72	63	9	110	110	0	strelka-varscan-mutect	MUC16,missense_variant,p.Thr6672Lys,ENST00000397910,NM_024690.2;	T	ENST00000397910	Transcript	missense_variant	20219/43816	20015/43524	6672/14507	T/K	aCa/aAa	rs188615098	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			3/84																			MODERATE	1	SNV	5			1										PASS		rs188615098	.												T	3	4	103	8956755	8956755	G	T	1	0	0	0	0	1	0	0	0	9972	1377	48	2		2	MUC16	19	8956755	Missense_Mutation	SNP	G	C3N-02572_TP	845681	8956755	49660861	44	31673											
TRMT1	0	.	GRCh38	chr19	13105009	13105009	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctggacagtcaggggCagcatcagcagaaaccctgg	10	6	14	11	0	3	1	2	0	1	1	4	2	3	2	1	5	3	3	1	5	1	0	novel		C3N-02572_TP	C3N-02572_NB	C	C																c.1906G>T	p.Ala636Ser	p.A636S	ENST00000592062	18/18	155	147	8	83	83	0	strelka-varscan-mutect	TRMT1,missense_variant,p.Ala636Ser,ENST00000592062,;TRMT1,missense_variant,p.Ala636Ser,ENST00000437766,NM_017722.3;TRMT1,missense_variant,p.Ala607Ser,ENST00000221504,NM_001142554.1;TRMT1,missense_variant,p.Ala636Ser,ENST00000357720,NM_001136035.2;LYL1,upstream_gene_variant,,ENST00000264824,NM_005583.4;LYL1,upstream_gene_variant,,ENST00000590974,;TRMT1,downstream_gene_variant,,ENST00000587487,;TRMT1,non_coding_transcript_exon_variant,,ENST00000588511,;TRMT1,non_coding_transcript_exon_variant,,ENST00000593157,;LYL1,upstream_gene_variant,,ENST00000590120,;TRMT1,downstream_gene_variant,,ENST00000585435,;TRMT1,downstream_gene_variant,,ENST00000586830,;	A	ENST00000592062	Transcript	missense_variant	2477/2579	1906/1980	636/659	A/S	Gcc/Tcc		1		-1	TRMT1	HGNC	HGNC:25980	protein_coding	YES	CCDS12293.1	ENSP00000466967	Q9NXH9	A0A024R7I5	UPI0000000A02		tolerated_low_confidence(0.81)		18/18																			MODERATE		SNV	5			1										PASS		.	.												A	3	1	103	13105009	13105009	C	A	1	0	0	0	0	1	0	0	0	17060	710	25	2		2	TRMT1	19	13105009	Missense_Mutation	SNP	C	C3N-02572_TP	4148254	13105009	45512607	45	31674											
ZNF93	0	.	GRCh38	chr19	19934086	19934086	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagaatgtggcaaagcCttcatttggtcctcagtcct	9	13	10	9	0	2	2	2	1	0	1	4	2	4	2	3	2	1	1	3	2	3	2	rs554493455		C3N-02572_TP	C3N-02572_NB	C	C																c.1131C>T	p.=	p.A377A	ENST00000343769	4/4	24	20	4	78	77	1	strelka-varscan	ZNF93,synonymous_variant,p.=,ENST00000343769,NM_031218.3;ZNF93,downstream_gene_variant,,ENST00000592160,;ZNF93,downstream_gene_variant,,ENST00000588146,;AC007204.2,intron_variant,,ENST00000592245,;ZNF93,downstream_gene_variant,,ENST00000586021,;	T	ENST00000343769	Transcript	synonymous_variant	1159/2648	1131/1863	377/620	A	gcC/gcT	rs554493455,COSM3101987	1		1	ZNF93	HGNC	HGNC:13169	protein_coding	YES	CCDS32973.1	ENSP00000342002	P35789		UPI00002263B9	NM_031218.3			4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF374,SMART_domains:SM00355,Superfamily_domains:SSF57667											0,1						LOW	1	SNV	1		0,1	1										PASS		.	.												T	2	4	103	19934086	19934086	C	T	1	0	0	0	0	0	0	0	1	18795	668	24	3		3	ZNF93	19	19934086	Silent	SNP	C	C3N-02572_TP	6829077	19934086	38683530	46	31675											
ACTN4	0	.	GRCh38	chr19	38708159	38708159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccctgatccaccggcaCagaccagagctgattgagta	12	7	10	12	1	0	5	0	3	0	2	1	5	1	5	4	1	2	3	4	1	2	2	novel		C3N-02572_TP	C3N-02572_NB	C	C																c.615C>T	p.=	p.H205H	ENST00000252699	6/21	577	507	70	441	441	0	strelka-varscan-mutect	ACTN4,synonymous_variant,p.=,ENST00000252699,NM_004924.4;ACTN4,synonymous_variant,p.=,ENST00000586538,;ACTN4,intron_variant,,ENST00000390009,;ACTN4,intron_variant,,ENST00000424234,;ACTN4,intron_variant,,ENST00000589528,;ACTN4,non_coding_transcript_exon_variant,,ENST00000495553,;ACTN4,non_coding_transcript_exon_variant,,ENST00000588618,;ACTN4,upstream_gene_variant,,ENST00000489451,;	T	ENST00000252699	Transcript	synonymous_variant	691/4963	615/2736	205/911	H	caC/caT		1		1	ACTN4	HGNC	HGNC:166	protein_coding	YES	CCDS12518.1	ENSP00000252699	O43707	A0A0S2Z3G9	UPI0000125093	NM_004924.4			6/21		PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF271,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	103	38708159	38708159	C	T	1	0	0	0	0	0	0	0	1	251	477	17	3		3	ACTN4	19	38708159	Silent	SNP	C	C3N-02572_TP	18774073	38708159	19909457	47	31676											
PPP1R16B	0	.	GRCh38	chr20	38902690	38902690	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcacccaagagaaaatcaaCgagatgcgggtggctcctga	14	6	11	10	2	2	3	2	1	0	2	3	5	3	3	2	2	2	1	2	2	4	0	rs200868467		C3N-02572_TP	C3N-02572_NB	C	C																c.594C>T	p.=	p.N198N	ENST00000299824	6/11	223	198	25	141	141	0	strelka-mutect	PPP1R16B,synonymous_variant,p.=,ENST00000299824,NM_015568.2;PPP1R16B,synonymous_variant,p.=,ENST00000373331,NM_001172735.1;	T	ENST00000299824	Transcript	synonymous_variant	783/6251	594/1704	198/567	N	aaC/aaT	rs200868467,COSM284183	1		1	PPP1R16B	HGNC	HGNC:15850	protein_coding	YES	CCDS13309.1	ENSP00000299824	Q96T49		UPI0000132059	NM_015568.2			6/11		PROSITE_profiles:PS50297,hmmpanther:PTHR24186,hmmpanther:PTHR24186:SF6,Gene3D:1.25.40.20,PIRSF_domain:PIRSF038159,Superfamily_domains:SSF48403											0,1						LOW	1	SNV	1		0,1	1										PASS		rs200868467	.												T	2	4	103	38902690	38902690	C	T	1	0	0	0	0	0	0	0	1	12476	535	19	1		1	PPP1R16B	20	38902690	Silent	SNP	C	C3N-02572_TP		38902690	25541477	48	31677											
KCNQ2	0	.	GRCh38	chr20	63407042	63407042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggcggcggcgggatgcGcaccagggagccgtggtccc	5	3	20	13	5	0	0	0	0	0	0	1	2	1	2	3	7	2	2	3	7	0	0			C3N-02572_TP	C3N-02572_NB	G	G																c.2221C>T	p.Arg741Cys	p.R741C	ENST00000359125	17/17	75	66	9	53	53	0	strelka-varscan-mutect	KCNQ2,missense_variant,p.Arg723Cys,ENST00000626839,NM_172106.1;KCNQ2,missense_variant,p.Arg741Cys,ENST00000359125,NM_172107.2;KCNQ2,missense_variant,p.Arg540Cys,ENST00000637193,;KCNQ2,missense_variant,p.Arg713Cys,ENST00000360480,NM_004518.4;KCNQ2,missense_variant,p.Arg710Cys,ENST00000344462,NM_172108.3;KCNQ2,missense_variant,p.Arg597Cys,ENST00000357249,;KCNQ2,splice_region_variant,,ENST00000370224,;KCNQ2,splice_region_variant,,ENST00000625514,;KCNQ2,splice_region_variant,,ENST00000629241,;KCNQ2,intron_variant,,ENST00000629676,;KCNQ2,downstream_gene_variant,,ENST00000636614,;KCNQ2,downstream_gene_variant,,ENST00000637063,;KCNQ2,downstream_gene_variant,,ENST00000637338,;KCNQ2,downstream_gene_variant,,ENST00000637656,;	A	ENST00000359125	Transcript	missense_variant	2348/3253	2221/2619	741/872	R/C	Cgc/Tgc	COSM5176407,COSM5176408,COSM5176409	1		-1	KCNQ2	HGNC	HGNC:6296	protein_coding	YES	CCDS13520.1	ENSP00000352035	O43526		UPI00001279ED	NM_172107.2	deleterious_low_confidence(0)		17/17		Pfam_domain:PF16642											1,1,1						MODERATE	1	SNV	1		1,1,1	1										PASS		.	.												A	3	1	103	63407042	63407042	G	A	1	0	0	0	0	1	0	0	0	7999	1101	38	1		1	KCNQ2	20	63407042	Missense_Mutation	SNP	G	C3N-02572_TP	24504352	63407042	1037125	49	31678											
GRAP2	0	.	GRCh38	chr22	39971059	39971059	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgggcctcttccctgccaActacgtggcacccatgaccc	6	8	9	18	1	1	1	0	1	1	0	2	1	2	1	5	2	3	2	5	2	2	2	rs752554043		C3N-02572_TP	C3N-02572_NB	A	A																c.968A>C	p.Asn323Thr	p.N323T	ENST00000344138	8/8	224	206	18	158	157	1	strelka-varscan-mutect	GRAP2,missense_variant,p.Asn323Thr,ENST00000344138,NM_004810.3,NM_001291824.1;GRAP2,missense_variant,p.Asn323Thr,ENST00000407075,NM_001291825.1;GRAP2,downstream_gene_variant,,ENST00000478445,;GRAP2,non_coding_transcript_exon_variant,,ENST00000460449,;GRAP2,downstream_gene_variant,,ENST00000481263,;	C	ENST00000344138	Transcript	missense_variant	1231/3893	968/993	323/330	N/T	aAc/aCc	rs752554043	1		1	GRAP2	HGNC	HGNC:4563	protein_coding	YES	CCDS13999.1	ENSP00000339186	O75791	Q6FI14	UPI000012BB02	NM_004810.3,NM_001291824.1	deleterious(0)		8/8		Gene3D:2.30.30.40,Prints_domain:PR00452,PROSITE_profiles:PS50002,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		rs752554043	.												C	3	2	103	39971059	39971059	A	C	1	0	0	0	0	1	0	0	0	6633	43	2	5		5	GRAP2	22	39971059	Missense_Mutation	SNP	A	C3N-02572_TP		39971059	10847409	50	31679											
EFCAB6	0	.	GRCh38	chr22	43711506	43711506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggataaaaattcttcttgGtatttggtatacaaaagtgt	13	16	8	4	0	2	0	0	0	2	0	2	1	2	1	0	3	1	2	0	3	8	8	novel		C3N-02572_TP	C3N-02572_NB	G	G																c.1000C>T	p.Pro334Ser	p.P334S	ENST00000262726	10/32	50	46	4	91	91	0	varscan-mutect	EFCAB6,missense_variant,p.Pro334Ser,ENST00000262726,NM_022785.3;EFCAB6,missense_variant,p.Pro182Ser,ENST00000396231,NM_198856.2;EFCAB6,non_coding_transcript_exon_variant,,ENST00000404038,;	A	ENST00000262726	Transcript	missense_variant	1254/4869	1000/4506	334/1501	P/S	Cca/Tca		1		-1	EFCAB6	HGNC	HGNC:24204	protein_coding	YES	CCDS14049.1	ENSP00000262726	Q5THR3		UPI0000225CD7	NM_022785.3	deleterious(0.04)		10/32		Gene3D:1.10.238.10,Superfamily_domains:SSF47473																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	103	43711506	43711506	G	A	1	0	0	0	0	1	0	0	0	4773	1261	44	3		3	EFCAB6	22	43711506	Missense_Mutation	SNP	G	C3N-02572_TP	3740447	43711506	7106962	51	31680											
FAM47C	0	.	GRCh38	chrX	37009461	37009461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcctcccgagactggaGtgtcccatctctgcccggaa	8	7	11	15	2	1	2	0	0	1	2	4	5	3	4	4	2	2	0	4	2	1	0			C3N-02572_TP	C3N-02572_NB	G	G																c.1051G>A	p.Val351Met	p.V351M	ENST00000358047	1/1	198	183	15	138	138	0	varscan-mutect	FAM47C,missense_variant,p.Val351Met,ENST00000358047,NM_001013736.2;	A	ENST00000358047	Transcript	missense_variant	1065/3270	1051/3108	351/1035	V/M	Gtg/Atg	COSM311058,COSM311059	1		1	FAM47C	HGNC	HGNC:25301	protein_coding	YES	CCDS35227.1	ENSP00000367913	Q5HY64		UPI000041ABF8	NM_001013736.2	deleterious(0.01)		1/1		hmmpanther:PTHR23213:SF203,hmmpanther:PTHR23213,Pfam_domain:PF14642											1,1						MODERATE	1	SNV			1,1	1										PASS		.	.												A	3	1	103	37009461	37009461	G	A	1	0	0	0	0	1	0	0	0	5449	1029	36	3		3	FAM47C	23	37009461	Missense_Mutation	SNP	G	C3N-02572_TP		37009461	119031434	52	31681											
ESPN	0	.	GRCh38	chr1	6457241	6457241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggaggcgggacctcctgCggaagaagctggaagaagag	11	4	17	9	2	0	3	0	0	0	3	1	7	1	7	3	5	2	1	3	5	4	0	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.2383C>T	p.Arg795Trp	p.R795W	ENST00000377828	11/13	266	247	19	338	338	0	varscan-mutect	ESPN,missense_variant,p.Arg795Trp,ENST00000377828,NM_031475.2;ESPN,missense_variant,p.Arg229Trp,ENST00000461727,;ESPN,missense_variant,p.Arg178Trp,ENST00000633239,;ESPN,missense_variant,p.Arg229Trp,ENST00000416731,;ESPN,missense_variant,p.Arg150Trp,ENST00000475228,;ESPN,missense_variant,p.Arg139Trp,ENST00000434576,;ESPN,missense_variant,p.Arg170Trp,ENST00000636644,;ESPN,downstream_gene_variant,,ENST00000636330,;TNFRSF25,downstream_gene_variant,,ENST00000377782,NM_148965.1;TNFRSF25,downstream_gene_variant,,ENST00000356876,NM_003790.2;TNFRSF25,downstream_gene_variant,,ENST00000351959,NM_148966.1;TNFRSF25,downstream_gene_variant,,ENST00000348333,NM_148967.1;TNFRSF25,downstream_gene_variant,,ENST00000351748,NM_148970.1;ESPN,upstream_gene_variant,,ENST00000468561,;TNFRSF25,downstream_gene_variant,,ENST00000475730,;ESPN,non_coding_transcript_exon_variant,,ENST00000477679,;TNFRSF25,downstream_gene_variant,,ENST00000513135,;TNFRSF25,downstream_gene_variant,,ENST00000485036,;TNFRSF25,downstream_gene_variant,,ENST00000480393,;TNFRSF25,downstream_gene_variant,,ENST00000473343,;TNFRSF25,downstream_gene_variant,,ENST00000414040,;TNFRSF25,downstream_gene_variant,,ENST00000510563,;TNFRSF25,downstream_gene_variant,,ENST00000453260,;TNFRSF25,downstream_gene_variant,,ENST00000502588,;TNFRSF25,downstream_gene_variant,,ENST00000502730,;TNFRSF25,downstream_gene_variant,,ENST00000469691,;	T	ENST00000377828	Transcript	missense_variant	2551/3531	2383/2565	795/854	R/W	Cgg/Tgg		1		1	ESPN	HGNC	HGNC:13281	protein_coding	YES	CCDS70.1	ENSP00000367059	B1AK53		UPI000013D2B6	NM_031475.2	deleterious(0)		11/13		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24153:SF14,hmmpanther:PTHR24153																	MODERATE	1	SNV	1			1										PASS		rs1436366629	.												T	3	4	104	6457241	6457241	C	T	1	0	0	0	0	1	0	0	0	5116	759	27	1		1	ESPN	1	6457241	Missense_Mutation	SNP	C	C3N-02582_TP		6457241	242499181	1	31682											
UBR4	0	.	GRCh38	chr1	19141362	19141362	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaccttgttggtcctgctGcaggctcagggcaatggcta	6	12	12	11	0	2	0	1	0	1	0	3	0	3	0	2	4	3	6	2	4	3	4	novel		C3N-02582_TP	C3N-02582_NB	G	G																c.8473C>T	p.Gln2825Ter	p.Q2825*	ENST00000375254	57/106	286	243	43	386	386	0	strelka-varscan-mutect	UBR4,stop_gained,p.Gln2825Ter,ENST00000375254,NM_020765.2;UBR4,stop_gained,p.Gln1546Ter,ENST00000417040,;UBR4,stop_gained,p.Gln468Ter,ENST00000425413,;UBR4,downstream_gene_variant,,ENST00000465036,;	A	ENST00000375254	Transcript	stop_gained	8501/15906	8473/15552	2825/5183	Q/*	Cag/Tag		1		-1	UBR4	HGNC	HGNC:30313	protein_coding	YES	CCDS189.1	ENSP00000364403	Q5T4S7		UPI000021276F	NM_020765.2			57/106		Low_complexity_(Seg):seg,hmmpanther:PTHR21725																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	104	19141362	19141362	G	A	1	0	0	0	0	0	1	0	0	17428	1328	46	3		3	UBR4	1	19141362	Nonsense_Mutation	SNP	G	C3N-02582_TP	12684121	19141362	229815060	2	31683											
ZNF362	0	.	GRCh38	chr1	33299012	33299012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcgccccagaggacggagtCccccggcatcccggtgcgaa	7	4	13	17	5	0	1	0	0	0	1	3	4	2	3	5	4	1	1	5	4	1	0	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.1229C>T	p.Ser410Phe	p.S410F	ENST00000539719	9/9	136	125	11	187	187	0	strelka-varscan-mutect	ZNF362,missense_variant,p.Ser410Phe,ENST00000539719,NM_152493.2;ZNF362,missense_variant,p.Ser410Phe,ENST00000373428,;	T	ENST00000539719	Transcript	missense_variant	1399/3106	1229/1263	410/420	S/F	tCc/tTc		1		1	ZNF362	HGNC	HGNC:18079	protein_coding	YES	CCDS377.1	ENSP00000446335	Q5T0B9		UPI000013E046	NM_152493.2	deleterious_low_confidence(0)		9/9																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	104	33299012	33299012	C	T	1	0	0	0	0	1	0	0	0	18440	855	30	3		3	ZNF362	1	33299012	Missense_Mutation	SNP	C	C3N-02582_TP	14157650	33299012	215657410	3	31684											
AGO1	0	.	GRCh38	chr1	35894096	35894096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agttcatgtgtgaggtgctgGacatcaggaacatagatgag	12	10	14	5	0	2	3	2	2	0	1	2	5	2	5	0	3	2	2	0	3	2	2	novel		C3N-02582_TP	C3N-02582_NB	G	G																c.709G>A	p.Asp237Asn	p.D237N	ENST00000373204	6/19	32	24	8	43	43	0	strelka-varscan-mutect	AGO1,missense_variant,p.Asp237Asn,ENST00000373204,NM_012199.2;AGO1,missense_variant,p.Asp162Asn,ENST00000373206,;AGO1,3_prime_UTR_variant,,ENST00000635259,;	A	ENST00000373204	Transcript	missense_variant	922/13708	709/2574	237/857	D/N	Gac/Aac		1		1	AGO1	HGNC	HGNC:3262	protein_coding	YES	CCDS398.1	ENSP00000362300	Q9UL18		UPI000012D07D	NM_012199.2	tolerated(0.21)		6/19		PROSITE_profiles:PS50821,hmmpanther:PTHR22891:SF17,hmmpanther:PTHR22891,Gene3D:2.170.260.10,Pfam_domain:PF02170,SMART_domains:SM00949,Superfamily_domains:SSF101690																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	104	35894096	35894096	G	A	1	0	0	0	0	1	0	0	0	464	1174	41	3		3	AGO1	1	35894096	Missense_Mutation	SNP	G	C3N-02582_TP	2595084	35894096	213062326	4	31685											
TIE1	0	.	GRCh38	chr1	43304995	43304995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgctggagaaggacgaccGtatcgtgcgcaccccgcccg	7	5	14	15	6	0	1	0	0	0	1	1	4	0	2	4	2	2	4	4	2	2	1	rs774803318		C3N-02582_TP	C3N-02582_NB	G	G																c.203G>A	p.Arg68His	p.R68H	ENST00000372476	2/23	50	45	5	53	53	0	strelka-mutect	TIE1,missense_variant,p.Arg68His,ENST00000372476,NM_005424.4,NM_001253357.1;TIE1,missense_variant,p.Arg68His,ENST00000538015,;TIE1,non_coding_transcript_exon_variant,,ENST00000485125,;TIE1,upstream_gene_variant,,ENST00000488437,;TIE1,upstream_gene_variant,,ENST00000480269,;	A	ENST00000372476	Transcript	missense_variant	282/3882	203/3417	68/1138	R/H	cGt/cAt	rs774803318,COSM1229279	1		1	TIE1	HGNC	HGNC:11809	protein_coding	YES	CCDS482.1	ENSP00000361554	P35590		UPI0000032E59	NM_005424.4,NM_001253357.1	deleterious(0.02)		2/23		hmmpanther:PTHR24416:SF341,hmmpanther:PTHR24416											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs774803318	.												A	3	1	104	43304995	43304995	G	A	1	0	0	0	0	1	0	0	0	16329	1145	40	1		1	TIE1	1	43304995	Missense_Mutation	SNP	G	C3N-02582_TP	7410899	43304995	205651427	5	31686											
SCP2	0	.	GRCh38	chr1	53028000	53028000	+	Frame_Shift_Del	DEL	C	C	-																															ctcatcaaattgaagctgttCcaaccagctctgcaagtgat																								novel		C3N-02582_TP	C3N-02582_NB	C	C																c.1268delC	p.Pro423GlnfsTer30	p.P423Qfs*30	ENST00000371514	13/16	249	180	69	385	385	0	sindel-varindel-pindel	SCP2,frameshift_variant,p.Pro19GlnfsTer25,ENST00000488965,;SCP2,frameshift_variant,p.Pro423GlnfsTer30,ENST00000371514,NM_002979.4;SCP2,frameshift_variant,p.Pro399GlnfsTer30,ENST00000407246,NM_001193599.1;SCP2,frameshift_variant,p.Pro342GlnfsTer30,ENST00000528311,NM_001193617.1;SCP2,frameshift_variant,p.Pro379GlnfsTer30,ENST00000371509,NM_001193600.1;SCP2,frameshift_variant,p.Pro19GlnfsTer25,ENST00000408941,NM_001007250.2;SCP2,frameshift_variant,p.Pro38GlnfsTer30,ENST00000478274,;SCP2,frameshift_variant,p.Pro16GlnfsTer30,ENST00000430330,NM_001007100.2;SCP2,frameshift_variant,p.Pro19GlnfsTer30,ENST00000435345,NM_001007099.2;SCP2,frameshift_variant,p.Pro38GlnfsTer25,ENST00000484100,;SCP2,3_prime_UTR_variant,,ENST00000478631,;SCP2,intron_variant,,ENST00000533119,;	-	ENST00000371514	Transcript	frameshift_variant	1435/2811	1267/1644	423/547	P/X	Cca/ca		1		1	SCP2	HGNC	HGNC:10606	protein_coding	YES	CCDS572.1	ENSP00000360569	P22307		UPI0000130258	NM_002979.4			13/16																			HIGH	1	deletion	1	1		1										PASS		.	.												-	7	5	104	53028000	53028000	C	-	1	0	1	0	1	0	0	0	0	14203	855	30	0		0	SCP2	1	53028000	Frame_Shift_Del	DEL	C	C3N-02582_TP	9723005	53028000	195928422	6	31687											
NBPF9	0	.	GRCh38	chr1	149075691	149075700	+	Frame_Shift_Del	DEL	GTTGAGTTAG	GTTGAGTTAG	-																															gttggccaggaagccggccaGttgagttagaaaacatttct																								novel		C3N-02582_TP	C3N-02582_NB	GTTGAGTTAG	GTTGAGTTAG																c.943_952delCTAACTCAAC	p.Leu315TrpfsTer21	p.L315Wfs*21	ENST00000615421	11/29	412	365	47	677	677	0	sindel-varindel-pindel	NBPF9,frameshift_variant,p.Leu315TrpfsTer21,ENST00000615421,;NBPF9,frameshift_variant,p.Leu315TrpfsTer21,ENST00000621645,;NBPF9,frameshift_variant,p.Leu315TrpfsTer21,ENST00000584027,NM_001277444.1;NBPF9,frameshift_variant,p.Leu315TrpfsTer21,ENST00000613969,NM_001037501.2;NBPF9,frameshift_variant,p.Leu315TrpfsTer21,ENST00000613595,NM_001037675.3;NBPF9,frameshift_variant,p.Leu315TrpfsTer21,ENST00000621074,;NBPF9,frameshift_variant,p.Leu315TrpfsTer21,ENST00000610300,;NBPF9,frameshift_variant,p.Leu44TrpfsTer21,ENST00000483630,;	-	ENST00000615421	Transcript	frameshift_variant	1813-1822/5835	943-952/3336	315-318/1111	LTQL/X	CTAACTCAACtg/tg		1		-1	NBPF9	HGNC	HGNC:31991	protein_coding	YES	CCDS72896.1	ENSP00000477979		A0A075B761	UPI000292EE30				11/29		hmmpanther:PTHR14199:SF20,hmmpanther:PTHR14199																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	104	149075691	149075691	GTTGAGTTAG	-	1	0	1	0	1	0	0	0	0	10215	1020	36	0		0	NBPF9	1	149075691	Frame_Shift_Del	DEL	GTTGAGTTAG	C3N-02582_TP	96047691	149075691	99880731	7	31688											
ATP8B2	0	.	GRCh38	chr1	154343958	154343958	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatctggatgaagagtactaCgaggagtgggctgagcgacg	11	7	17	6	3	1	3	0	2	1	1	1	8	1	5	0	3	3	2	0	3	3	2	rs2274988		C3N-02582_TP	C3N-02582_NB	C	C																c.1923C>T	p.=	p.Y641Y	ENST00000368489	18/28	114	107	7	143	143	0	strelka-varscan-mutect	ATP8B2,synonymous_variant,p.=,ENST00000368489,NM_020452.3;ATP8B2,downstream_gene_variant,,ENST00000426445,;ATP8B2,upstream_gene_variant,,ENST00000505882,;	T	ENST00000368489	Transcript	synonymous_variant	1923/5861	1923/3672	641/1223	Y	taC/taT	rs2274988	1		1	ATP8B2	HGNC	HGNC:13534	protein_coding	YES	CCDS1066.1	ENSP00000357475	P98198		UPI00001B92AB	NM_020452.3			18/28		Gene3D:3.40.1110.10,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF46,Superfamily_domains:SSF56784,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01652																	LOW	1	SNV	1			1										PASS		rs2274988	.												T	2	4	104	154343958	154343958	C	T	1	0	0	0	0	0	0	0	1	1348	547	19	1		1	ATP8B2	1	154343958	Silent	SNP	C	C3N-02582_TP	5268267	154343958	94612464	8	31689											
ASH1L	0	.	GRCh38	chr1	155354616	155354616	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaccaagaatacatgatgcTttaacacaaagttcctgcaa	16	9	7	9	0	0	2	0	1	0	1	1	3	1	3	2	1	4	3	2	1	6	4	novel		C3N-02582_TP	C3N-02582_NB	T	T																c.7070A>G	p.Lys2357Arg	p.K2357R	ENST00000392403	16/28	124	114	10	155	155	0	varscan-mutect	ASH1L,missense_variant,p.Lys2362Arg,ENST00000368346,;ASH1L,missense_variant,p.Lys2357Arg,ENST00000392403,NM_018489.2;RNU6-106P,downstream_gene_variant,,ENST00000384405,;	C	ENST00000392403	Transcript	missense_variant	7549/10979	7070/8895	2357/2964	K/R	aAg/aGg		1		-1	ASH1L	HGNC	HGNC:19088	protein_coding	YES	CCDS1113.2	ENSP00000376204	Q9NR48		UPI0000DACAC8	NM_018489.2	deleterious_low_confidence(0.04)		16/28																			MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	104	155354616	155354616	T	C	1	0	0	0	0	1	0	0	0	1183	1609	56	5		5	ASH1L	1	155354616	Missense_Mutation	SNP	T	C3N-02582_TP	1010658	155354616	93601806	9	31690											
SCYL3	0	.	GRCh38	chr1	169854307	169854307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaattttgaggaaaacTgcatcactggggagacatca	15	8	10	8	0	2	2	2	1	0	1	2	4	2	3	0	3	3	2	0	3	3	2	novel		C3N-02582_TP	C3N-02582_NB	T	T																c.2132A>G	p.Gln711Arg	p.Q711R	ENST00000367772	13/14	84	76	8	110	110	0	strelka-varscan-mutect	SCYL3,missense_variant,p.Gln657Arg,ENST00000367771,NM_020423.6;SCYL3,missense_variant,p.Gln711Arg,ENST00000367772,NM_181093.3;SCYL3,missense_variant,p.Gln711Arg,ENST00000367770,;C1orf112,downstream_gene_variant,,ENST00000286031,NM_018186.2;C1orf112,downstream_gene_variant,,ENST00000359326,;C1orf112,downstream_gene_variant,,ENST00000413811,;SCYL3,downstream_gene_variant,,ENST00000423670,;C1orf112,downstream_gene_variant,,ENST00000498289,;SCYL3,downstream_gene_variant,,ENST00000470238,;C1orf112,downstream_gene_variant,,ENST00000459772,;	C	ENST00000367772	Transcript	missense_variant	2354/3090	2132/2229	711/742	Q/R	cAg/cGg		1		-1	SCYL3	HGNC	HGNC:19285	protein_coding	YES	CCDS1287.1	ENSP00000356746	Q8IZE3		UPI00001AE580	NM_181093.3	tolerated(0.29)		13/14		hmmpanther:PTHR12984,hmmpanther:PTHR12984:SF15																	MODERATE		SNV	2			1										PASS		.	.												C	3	2	104	169854307	169854307	T	C	1	0	0	0	0	1	0	0	0	14221	1580	55	5		5	SCYL3	1	169854307	Missense_Mutation	SNP	T	C3N-02582_TP	14499691	169854307	79102115	10	31691											
CAMSAP2	0	.	GRCh38	chr1	200848941	200848941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacttaatattcctcatgtGgttgcttgggcacaaattcc	10	14	8	9	0	1	0	1	0	0	0	3	1	3	0	2	2	2	3	2	2	4	6	novel		C3N-02582_TP	C3N-02582_NB	G	G																c.2205G>A	p.=	p.V735V	ENST00000236925	12/18	371	337	34	405	405	0	strelka-varscan-mutect	CAMSAP2,synonymous_variant,p.=,ENST00000358823,NM_203459.2;CAMSAP2,synonymous_variant,p.=,ENST00000236925,NM_001297707.1;CAMSAP2,synonymous_variant,p.=,ENST00000413307,NM_001297708.1;CAMSAP2,intron_variant,,ENST00000447701,;	A	ENST00000236925	Transcript	synonymous_variant	2254/7161	2205/4470	735/1489	V	gtG/gtA		1		1	CAMSAP2	HGNC	HGNC:29188	protein_coding	YES	CCDS72998.1	ENSP00000236925	Q08AD1		UPI0000160246	NM_001297707.1			12/18		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF1																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	104	200848941	200848941	G	A	1	0	0	0	0	0	0	0	1	2304	1335	47	3		3	CAMSAP2	1	200848941	Silent	SNP	G	C3N-02582_TP	30994634	200848941	48107481	11	31692											
ITPKB	0	.	GRCh38	chr1	226737178	226737178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgggctgctcacgctactgCcgctgctgccgctgccactg	3	10	12	16	3	1	0	1	0	0	0	1	0	1	0	3	1	6	6	3	1	1	2	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.281G>T	p.Gly94Val	p.G94V	ENST00000429204	2/8	89	84	5	107	107	0	varscan-mutect	ITPKB,missense_variant,p.Gly94Val,ENST00000429204,NM_002221.3;ITPKB,missense_variant,p.Gly94Val,ENST00000272117,;ITPKB,missense_variant,p.Gly94Val,ENST00000366784,;	A	ENST00000429204	Transcript	missense_variant	621/6162	281/2841	94/946	G/V	gGc/gTc		1		-1	ITPKB	HGNC	HGNC:6179	protein_coding	YES	CCDS1555.1	ENSP00000411152	P27987		UPI000013D92B	NM_002221.3	tolerated_low_confidence(0.13)		2/8		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	104	226737178	226737178	C	A	1	0	0	0	0	1	0	0	0	7824	739	26	2		2	ITPKB	1	226737178	Missense_Mutation	SNP	C	C3N-02582_TP	25888237	226737178	22219244	12	31693											
TTC13	0	.	GRCh38	chr1	230940476	230940476	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggttccccgatgtctgtaCagccgtgctgagggctgcag	6	9	15	11	2	1	1	0	1	1	0	2	2	2	1	3	2	4	5	3	2	1	2	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.753G>A	p.=	p.L251L	ENST00000366661	7/23	296	236	60	283	283	0	strelka-varscan-mutect	TTC13,synonymous_variant,p.=,ENST00000366661,NM_024525.4;TTC13,synonymous_variant,p.=,ENST00000366662,NM_001122835.2;TTC13,synonymous_variant,p.=,ENST00000522399,;TTC13,intron_variant,,ENST00000522821,;TTC13,synonymous_variant,p.=,ENST00000481976,;TTC13,downstream_gene_variant,,ENST00000466507,;TTC13,upstream_gene_variant,,ENST00000519379,;	T	ENST00000366661	Transcript	synonymous_variant	761/3253	753/2583	251/860	L	ctG/ctA		1		-1	TTC13	HGNC	HGNC:26204	protein_coding	YES	CCDS1588.1	ENSP00000355621	Q8NBP0		UPI000013D91C	NM_024525.4			7/23		PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF448,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452,Superfamily_domains:SSF48452																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	104	230940476	230940476	C	T	1	0	0	0	0	0	0	0	1	17190	465	17	3		3	TTC13	1	230940476	Silent	SNP	C	C3N-02582_TP	4203298	230940476	18015946	13	31694											
DDX1	0	.	GRCh38	chr2	15621105	15621105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agataacacaagacctggtgCtaatagtccaggtgagttaa	15	9	10	7	0	0	3	0	1	0	2	1	3	1	3	2	2	2	2	2	2	5	4	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.1436C>G	p.Ala479Gly	p.A479G	ENST00000381341	19/27	96	87	9	181	181	0	strelka-varscan-mutect	DDX1,missense_variant,p.Ala479Gly,ENST00000381341,;DDX1,missense_variant,p.Ala479Gly,ENST00000233084,NM_004939.2;DDX1,missense_variant,p.Ala398Gly,ENST00000617198,;DDX1,missense_variant,p.Ala398Gly,ENST00000621973,;DDX1,non_coding_transcript_exon_variant,,ENST00000459706,;DDX1,non_coding_transcript_exon_variant,,ENST00000470674,;DDX1,upstream_gene_variant,,ENST00000478695,;	G	ENST00000381341	Transcript	missense_variant	1825/2817	1436/2223	479/740	A/G	gCt/gGt		1		1	DDX1	HGNC	HGNC:2734	protein_coding	YES	CCDS1686.1	ENSP00000370745	Q92499	A3RJH1	UPI00001290D1		tolerated(0.39)		19/27																			MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	104	15621105	15621105	C	G	1	0	0	0	0	1	0	0	0	4145	797	28	4		4	DDX1	2	15621105	Missense_Mutation	SNP	C	C3N-02582_TP		15621105	226572424	14	31695											
EIF2AK2	0	.	GRCh38	chr2	37141654	37141654	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctatgtaattccccatggaTaatccttctgaagaattcgt	11	14	6	10	1	1	2	0	1	1	1	4	3	3	3	4	1	0	1	4	1	5	6	rs765847525		C3N-02582_TP	C3N-02582_NB	T	T																c.288A>G	p.=	p.L96L	ENST00000233057	5/17	195	180	15	256	256	0	strelka-varscan-mutect	EIF2AK2,synonymous_variant,p.=,ENST00000233057,;EIF2AK2,synonymous_variant,p.=,ENST00000395127,NM_001135651.2,NM_002759.3;EIF2AK2,synonymous_variant,p.=,ENST00000405334,NM_001135652.2;EIF2AK2,synonymous_variant,p.=,ENST00000411537,;EIF2AK2,synonymous_variant,p.=,ENST00000390013,;EIF2AK2,non_coding_transcript_exon_variant,,ENST00000496059,;	C	ENST00000233057	Transcript	synonymous_variant	611/10042	288/1656	96/551	L	ttA/ttG	rs765847525	1		-1	EIF2AK2	HGNC	HGNC:9437	protein_coding	YES	CCDS1786.1	ENSP00000233057	P19525		UPI000000D925				5/17		hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF102,Superfamily_domains:SSF54768																	LOW	1	SNV	2			1										PASS		rs765847525	.												C	2	2	104	37141654	37141654	T	C	1	0	0	0	0	0	0	0	1	4833	1403	49	5		5	EIF2AK2	2	37141654	Silent	SNP	T	C3N-02582_TP	21520549	37141654	205051875	15	31696											
APLF	0	.	GRCh38	chr2	68646077	68646077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacttcatctttatcgctGccctggtccgctacaagaaa	11	11	7	12	2	2	1	1	0	1	1	4	2	3	1	2	1	3	2	2	1	5	4	novel		C3N-02582_TP	C3N-02582_NB	G	G																c.256G>T	p.Ala86Ser	p.A86S	ENST00000303786	2/3	115	109	6	162	161	1	strelka-mutect	PROKR1,missense_variant,p.Ala86Ser,ENST00000303786,;APLF,missense_variant,p.Ala86Ser,ENST00000394342,NM_138964.2;APLF,non_coding_transcript_exon_variant,,ENST00000627740,;	T	ENST00000303786	Transcript	missense_variant	676/4273	256/1182	86/393	A/S	Gcc/Tcc		1		1	PROKR1	HGNC	HGNC:4524	protein_coding	YES	CCDS1889.1	ENSP00000303775	Q8TCW9		UPI000003EAA7		tolerated(0.33)		2/3		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF229,Superfamily_domains:SSF81321																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	104	68646077	68646077	G	T	1	0	0	0	0	1	0	0	0	897	1319	46	2		2	APLF	2	68646077	Missense_Mutation	SNP	G	C3N-02582_TP	31504423	68646077	173547452	16	31697											
AAK1	0	.	GRCh38	chr2	69520961	69520961	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcggggtgcaattgaagtCtctgtggtgggaatgggatc	7	11	18	5	1	1	1	0	1	1	0	3	3	1	3	0	6	1	1	0	6	3	1	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.1083G>A	p.=	p.E361E	ENST00000409085	11/22	206	192	14	289	289	0	strelka-varscan-mutect	AAK1,synonymous_variant,p.=,ENST00000409085,NM_014911.3;AAK1,synonymous_variant,p.=,ENST00000406297,;AAK1,synonymous_variant,p.=,ENST00000409068,;SNORA36C,upstream_gene_variant,,ENST00000384289,;RN7SL604P,downstream_gene_variant,,ENST00000492589,;	T	ENST00000409085	Transcript	synonymous_variant	1460/11345	1083/2886	361/961	E	gaG/gaA		1		-1	AAK1	HGNC	HGNC:19679	protein_coding	YES	CCDS1893.2	ENSP00000386456	Q2M2I8		UPI0001881663	NM_014911.3			11/22		hmmpanther:PTHR22967:SF57,hmmpanther:PTHR22967																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	104	69520961	69520961	C	T	1	0	0	0	0	0	0	0	1	17	912	32	3		3	AAK1	2	69520961	Silent	SNP	C	C3N-02582_TP	874884	69520961	172672568	17	31698											
IL17RE	0	.	GRCh38	chr3	9915612	9915612	+	Frame_Shift_Del	DEL	C	C	-																															ctctgcgccaagggcgacatCcccccgccgctgcgcgccct																								novel		C3N-02582_TP	C3N-02582_NB	C	C																c.1814delC	p.Pro605ArgfsTer46	p.P605Rfs*46	ENST00000383814	16/16	51	47	4	92	92	0	sindel-pindel	IL17RE,frameshift_variant,p.Pro605ArgfsTer46,ENST00000383814,NM_153480.1,NM_153481.1;IL17RE,frameshift_variant,p.Pro638ArgfsTer46,ENST00000421412,NM_153483.2;IL17RE,3_prime_UTR_variant,,ENST00000454190,NM_001193380.1;IL17RC,upstream_gene_variant,,ENST00000295981,NM_153461.3;IL17RC,upstream_gene_variant,,ENST00000403601,NM_153460.3;IL17RC,upstream_gene_variant,,ENST00000383812,NM_032732.5;IL17RC,upstream_gene_variant,,ENST00000416074,NM_001203264.1;IL17RC,upstream_gene_variant,,ENST00000455057,NM_001203265.1;IL17RC,upstream_gene_variant,,ENST00000413608,NM_001203263.1;IL17RC,upstream_gene_variant,,ENST00000436503,;IL17RC,upstream_gene_variant,,ENST00000438091,;RNU6-882P,downstream_gene_variant,,ENST00000391025,;IL17RC,upstream_gene_variant,,ENST00000498214,;IL17RE,3_prime_UTR_variant,,ENST00000383815,;IL17RE,3_prime_UTR_variant,,ENST00000434065,;IL17RC,upstream_gene_variant,,ENST00000466046,;IL17RC,upstream_gene_variant,,ENST00000494365,;IL17RC,upstream_gene_variant,,ENST00000483582,;IL17RC,upstream_gene_variant,,ENST00000451271,;IL17RC,upstream_gene_variant,,ENST00000451231,;IL17RC,upstream_gene_variant,,ENST00000412901,;IL17RC,upstream_gene_variant,,ENST00000490512,;IL17RC,upstream_gene_variant,,ENST00000451165,;IL17RC,upstream_gene_variant,,ENST00000476810,;IL17RE,downstream_gene_variant,,ENST00000444427,;IL17RC,upstream_gene_variant,,ENST00000424206,;IL17RC,upstream_gene_variant,,ENST00000434756,;IL17RC,upstream_gene_variant,,ENST00000440502,;IL17RC,upstream_gene_variant,,ENST00000478206,;IL17RC,upstream_gene_variant,,ENST00000469686,;IL17RC,upstream_gene_variant,,ENST00000481032,;IL17RC,upstream_gene_variant,,ENST00000497102,;IL17RE,downstream_gene_variant,,ENST00000480244,;IL17RE,downstream_gene_variant,,ENST00000483258,;	-	ENST00000383814	Transcript	frameshift_variant	1914/2704	1809/2004	603/667	I/X	atC/at		1		1	IL17RE	HGNC	HGNC:18439	protein_coding	YES	CCDS2589.1	ENSP00000373325	Q8NFR9		UPI000003E87E	NM_153480.1,NM_153481.1			16/16		PROSITE_profiles:PS51534,hmmpanther:PTHR15583:SF5,hmmpanther:PTHR15583,Pfam_domain:PF08357																	HIGH	1	deletion	1	5		1										PASS		.	.												-	7	5	104	9915612	9915612	C	-	1	0	1	0	1	0	0	0	0	7551	845	30	0		0	IL17RE	3	9915612	Frame_Shift_Del	DEL	C	C3N-02582_TP		9915612	188379947	18	31699											
ALS2CL	0	.	GRCh38	chr3	46687684	46687684	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgtgtaggactcaatgtaCctgcaggcagcacaggggac	10	8	13	10	0	1	0	1	0	0	0	1	2	1	2	1	4	3	5	1	4	3	3	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.303G>T	p.Glu101Asp	p.E101D	ENST00000318962	4/26	77	71	6	107	107	0	strelka-varscan-mutect	ALS2CL,missense_variant,p.Glu101Asp,ENST00000318962,NM_147129.3;ALS2CL,missense_variant,p.Glu101Asp,ENST00000415953,NM_001190707.1;ALS2CL,missense_variant,p.Glu32Asp,ENST00000423707,;ALS2CL,missense_variant,p.Glu101Asp,ENST00000434140,;ALS2CL,splice_region_variant,,ENST00000450172,;ALS2CL,splice_region_variant,,ENST00000431015,;	A	ENST00000318962	Transcript	missense_variant,splice_region_variant	387/4741	303/2862	101/953	E/D	gaG/gaT		1		-1	ALS2CL	HGNC	HGNC:20605	protein_coding	YES	CCDS2743.1	ENSP00000313670	Q60I27	A0A024R2U1	UPI00001B5641	NM_147129.3	tolerated(0.13)		4/26		Gene3D:1.20.900.10,Superfamily_domains:SSF48065																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	104	46687684	46687684	C	A	1	0	0	0	0	1	0	0	0	651	521	18	2		2	ALS2CL	3	46687684	Missense_Mutation	SNP	C	C3N-02582_TP	36772072	46687684	151607875	19	31700											
DNAH1	0	.	GRCh38	chr3	52359988	52359988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctgtcagcgctaatcGtcattgaggtccatgccaag	9	10	11	11	2	2	1	2	1	0	0	4	1	3	1	2	1	3	2	2	1	2	2	rs369984253		C3N-02582_TP	C3N-02582_NB	G	G																c.4480G>A	p.Val1494Ile	p.V1494I	ENST00000420323	27/78	229	197	32	370	370	0	strelka-varscan-mutect	DNAH1,missense_variant,p.Val1494Ile,ENST00000420323,NM_015512.4;DNAH1,upstream_gene_variant,,ENST00000466628,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;	A	ENST00000420323	Transcript	missense_variant	4741/13104	4480/12798	1494/4265	V/I	Gtc/Atc	rs369984253,COSM86463	1		1	DNAH1	HGNC	HGNC:2940	protein_coding	YES	CCDS46842.1	ENSP00000401514	Q9P2D7	A0A140VJI6	UPI00017EE9F6	NM_015512.4	deleterious(0)		27/78		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs369984253	.												A	3	1	104	52359988	52359988	G	A	1	0	0	0	0	1	0	0	0	4410	1145	40	1		1	DNAH1	3	52359988	Missense_Mutation	SNP	G	C3N-02582_TP	5672304	52359988	145935571	20	31701											
SHQ1	0	.	GRCh38	chr3	72750749	72750749	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacaagcagtgctgctgcTtctagttcttccagttctaa	8	14	9	10	0	3	0	0	0	3	0	4	1	4	1	1	1	4	6	1	1	3	6	novel		C3N-02582_TP	C3N-02582_NB	T	T																c.1269A>T	p.Glu423Asp	p.E423D	ENST00000325599	11/11	133	109	24	219	219	0	strelka-varscan-mutect	SHQ1,missense_variant,p.Glu423Asp,ENST00000325599,NM_018130.2;SHQ1,missense_variant,p.Glu395Asp,ENST00000463369,;SHQ1,non_coding_transcript_exon_variant,,ENST00000468371,;SHQ1,3_prime_UTR_variant,,ENST00000444040,;	A	ENST00000325599	Transcript	missense_variant	1409/2879	1269/1734	423/577	E/D	gaA/gaT		1		-1	SHQ1	HGNC	HGNC:25543	protein_coding	YES	CCDS33788.1	ENSP00000315182	Q6PI26		UPI00001416C5	NM_018130.2	deleterious(0)		11/11		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12967,hmmpanther:PTHR12967:SF0,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	104	72750749	72750749	T	A	1	0	0	0	0	1	0	0	0	14555	1606	56	4		4	SHQ1	3	72750749	Missense_Mutation	SNP	T	C3N-02582_TP	20390761	72750749	125544810	21	31702											
EPHA3	0	.	GRCh38	chr3	89395917	89395917	+	Missense_Mutation	SNP	C	C	A																															cctggcaagaacctgaacatCctaatgggatcatattggac																								novel		C3N-02582_TP	C3N-02582_NB	C	C																c.1387C>A	p.Pro463Thr	p.P463T	ENST00000336596	6/17	145	135	10	233	233	0	strelka-varscan-mutect	EPHA3,missense_variant,p.Pro463Thr,ENST00000336596,NM_005233.5;EPHA3,missense_variant,p.Pro463Thr,ENST00000494014,;EPHA3,missense_variant,p.Pro463Thr,ENST00000452448,NM_182644.2;	A	ENST00000336596	Transcript	missense_variant	1612/5809	1387/2952	463/983	P/T	Cct/Act		1		1	EPHA3	HGNC	HGNC:3387	protein_coding	YES	CCDS2922.1	ENSP00000337451	P29320	A0A140VJJ0	UPI0000163BE4	NM_005233.5	deleterious(0.05)		6/17		PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	104	89395917	89395917	C	A	1	0	0	0	0	1	0	0	0	5015	855	30	2		2	EPHA3	3	89395917	Missense_Mutation	SNP	C	C3N-02582_TP	16645168	89395917	108899642	22	31703	648	2									
EPHA3	0	.	GRCh38	chr3	89395918	89395918	+	Missense_Mutation	SNP	C	C	A																															ctggcaagaacctgaacatcCtaatgggatcatattggact																								rs775011935		C3N-02582_TP	C3N-02582_NB	C	C																c.1388C>A	p.Pro463His	p.P463H	ENST00000336596	6/17	146	135	11	233	233	0	strelka-varscan	EPHA3,missense_variant,p.Pro463His,ENST00000336596,NM_005233.5;EPHA3,missense_variant,p.Pro463His,ENST00000494014,;EPHA3,missense_variant,p.Pro463His,ENST00000452448,NM_182644.2;	A	ENST00000336596	Transcript	missense_variant	1613/5809	1388/2952	463/983	P/H	cCt/cAt	rs775011935	1		1	EPHA3	HGNC	HGNC:3387	protein_coding	YES	CCDS2922.1	ENSP00000337451	P29320	A0A140VJJ0	UPI0000163BE4	NM_005233.5	deleterious(0)		6/17		PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	104	89395918	89395918	C	A	1	0	0	0	0	1	0	0	0	5015	681	24	2		2	EPHA3	3	89395918	Missense_Mutation	SNP	C	C3N-02582_TP	1	89395918	108899641	23	31704	648	2									
DCBLD2	0	.	GRCh38	chr3	98800636	98800636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggactcaggtgattaacttCgctgctgctatagcgaactg	9	12	11	9	2	1	1	1	1	0	0	2	3	1	2	0	2	5	3	0	2	4	4	rs749511785		C3N-02582_TP	C3N-02582_NB	C	C																c.1801G>A	p.Glu601Lys	p.E601K	ENST00000326840	15/16	193	153	40	269	269	0	strelka-varscan-mutect	DCBLD2,missense_variant,p.Glu601Lys,ENST00000326840,NM_080927.3;DCBLD2,missense_variant,p.Glu615Lys,ENST00000326857,;ST3GAL6,downstream_gene_variant,,ENST00000394162,NM_001323352.1,NM_001323365.1,NM_006100.3;ST3GAL6,downstream_gene_variant,,ENST00000613264,NM_001271145.1;ST3GAL6,downstream_gene_variant,,ENST00000265261,NM_001271147.1,NM_001271142.1;RNU6-26P,downstream_gene_variant,,ENST00000383985,;ST3GAL6,intron_variant,,ENST00000491912,;ST3GAL6,upstream_gene_variant,,ENST00000495502,;DCBLD2,non_coding_transcript_exon_variant,,ENST00000496736,;ST3GAL6,downstream_gene_variant,,ENST00000486249,;DCBLD2,downstream_gene_variant,,ENST00000494614,;	T	ENST00000326840	Transcript	missense_variant	2164/6122	1801/2328	601/775	E/K	Gaa/Aaa	rs749511785	1		-1	DCBLD2	HGNC	HGNC:24627	protein_coding	YES	CCDS46878.1	ENSP00000321573	Q96PD2		UPI0000072ABB	NM_080927.3	tolerated(0.13)		15/16		hmmpanther:PTHR10127																	MODERATE	1	SNV	1			1										PASS		rs749511785	.												T	3	4	104	98800636	98800636	C	T	1	0	0	0	0	1	0	0	0	4083	893	31	1		1	DCBLD2	3	98800636	Missense_Mutation	SNP	C	C3N-02582_TP	9404718	98800636	99494923	24	31705											
ALB	0	.	GRCh38	chr4	73418181	73418181	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagaatccttggtgaacAggcgaccatgcttttcagct	10	10	10	11	1	1	2	1	1	0	1	2	3	2	2	2	2	3	3	2	2	2	3	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.1522A>T	p.Arg508Trp	p.R508W	ENST00000295897	12/15	260	226	34	414	414	0	strelka-varscan-mutect	ALB,missense_variant,p.Arg508Trp,ENST00000295897,NM_000477.5;ALB,missense_variant,p.Arg508Trp,ENST00000509063,;ALB,missense_variant,p.Arg358Trp,ENST00000503124,;ALB,missense_variant,p.Arg393Trp,ENST00000401494,;ALB,missense_variant,p.Arg295Trp,ENST00000621628,;ALB,missense_variant,p.Arg353Trp,ENST00000511370,;ALB,missense_variant,p.Arg316Trp,ENST00000415165,;ALB,missense_variant,p.Arg295Trp,ENST00000621085,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,upstream_gene_variant,,ENST00000495173,;ALB,3_prime_UTR_variant,,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;ALB,upstream_gene_variant,,ENST00000508932,;	T	ENST00000295897	Transcript	missense_variant	1611/2263	1522/1830	508/609	R/W	Agg/Tgg		1		1	ALB	HGNC	HGNC:399	protein_coding	YES	CCDS3555.1	ENSP00000295897	P02768		UPI000002C1AC	NM_000477.5	deleterious(0)		12/15		Gene3D:1.10.246.10,Pfam_domain:PF00273,PIRSF_domain:PIRSF002520,SMART_domains:SM00103,Superfamily_domains:SSF48552,PROSITE_profiles:PS51438,hmmpanther:PTHR11385:SF13,hmmpanther:PTHR11385																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	104	73418181	73418181	A	T	1	0	0	0	0	1	0	0	0	586	179	7	4		4	ALB	4	73418181	Missense_Mutation	SNP	A	C3N-02582_TP		73418181	116796374	25	31706											
ADH1A	0	.	GRCh38	chr4	99282509	99282509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccttgttgatgtccaccGcaatgattctggctgcccca	6	13	9	13	1	1	2	0	2	1	0	3	2	3	2	5	1	1	3	5	1	1	3	rs781090973		C3N-02582_TP	C3N-02582_NB	G	G																c.665C>T	p.Ala222Val	p.A222V	ENST00000209668	6/9	288	263	25	398	397	1	varscan-mutect	ADH1A,missense_variant,p.Ala222Val,ENST00000209668,NM_000667.3;RP11-696N14.1,intron_variant,,ENST00000500358,;RP11-696N14.1,downstream_gene_variant,,ENST00000506160,;ADH1A,downstream_gene_variant,,ENST00000511656,;ADH1A,non_coding_transcript_exon_variant,,ENST00000503461,;	A	ENST00000209668	Transcript	missense_variant	779/1499	665/1128	222/375	A/V	gCg/gTg	rs781090973,COSM1049401	1		-1	ADH1A	HGNC	HGNC:249	protein_coding	YES	CCDS3648.1	ENSP00000209668	P07327		UPI0000062219	NM_000667.3	deleterious(0.03)		6/9		hmmpanther:PTHR11695:SF527,hmmpanther:PTHR11695,Pfam_domain:PF00107,Gene3D:3.40.50.720,SMART_domains:SM00829,Superfamily_domains:SSF51735											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs781090973	.												A	3	1	104	99282509	99282509	G	A	1	0	0	0	0	1	0	0	0	380	1087	38	1		1	ADH1A	4	99282509	Missense_Mutation	SNP	G	C3N-02582_TP	25864328	99282509	90932046	26	31707											
PLK4	0	.	GRCh38	chr4	127887454	127887454	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagacccgacacctcagActgaaaccgtacaacagtgg	13	6	9	13	2	1	3	1	1	0	2	1	4	1	3	3	1	4	2	3	1	3	2	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.1417A>G	p.Thr473Ala	p.T473A	ENST00000270861	6/16	205	194	11	241	241	0	strelka-varscan-mutect	PLK4,missense_variant,p.Thr473Ala,ENST00000270861,NM_014264.4;PLK4,missense_variant,p.Thr473Ala,ENST00000515069,;PLK4,missense_variant,p.Thr439Ala,ENST00000507249,;PLK4,missense_variant,p.Thr441Ala,ENST00000513090,NM_001190799.1;PLK4,missense_variant,p.Thr432Ala,ENST00000514379,NM_001190801.1;PLK4,upstream_gene_variant,,ENST00000508113,;RNU6-583P,upstream_gene_variant,,ENST00000516012,;PLK4,downstream_gene_variant,,ENST00000511942,;PLK4,non_coding_transcript_exon_variant,,ENST00000510605,;PLK4,upstream_gene_variant,,ENST00000507454,;PLK4,downstream_gene_variant,,ENST00000503914,;	G	ENST00000270861	Transcript	missense_variant	1691/3841	1417/2913	473/970	T/A	Act/Gct		1		1	PLK4	HGNC	HGNC:11397	protein_coding	YES	CCDS3735.1	ENSP00000270861	O00444		UPI000007426E	NM_014264.4	tolerated(0.66)		6/16		hmmpanther:PTHR24345,hmmpanther:PTHR24345:SF50																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	104	127887454	127887454	A	G	1	0	0	0	0	1	0	0	0	12193	275	10	5		5	PLK4	4	127887454	Missense_Mutation	SNP	A	C3N-02582_TP	28604945	127887454	62327101	27	31708											
PCDH10	0	.	GRCh38	chr4	133152283	133152283	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaacctcgctagacctcAccctcatcctcatcatcgcg	9	8	7	17	3	4	1	4	0	0	1	7	2	5	2	4	1	1	1	4	1	2	1	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.2143A>T	p.Thr715Ser	p.T715S	ENST00000264360	1/5	113	103	10	164	164	0	strelka-varscan-mutect	PCDH10,missense_variant,p.Thr715Ser,ENST00000264360,NM_032961.2;PCDH10,missense_variant,p.Thr715Ser,ENST00000618019,NM_020815.2;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;PCDH10,upstream_gene_variant,,ENST00000511112,;	T	ENST00000264360	Transcript	missense_variant	2969/8489	2143/3123	715/1040	T/S	Acc/Tcc		1		1	PCDH10	HGNC	HGNC:13404	protein_coding	YES	CCDS34063.1	ENSP00000264360	Q9P2E7	X5D999	UPI0000161C61	NM_032961.2	tolerated(0.27)		1/5		Pfam_domain:PF16492,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF0																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	104	133152283	133152283	A	T	1	0	0	0	0	1	0	0	0	11594	159	6	4		4	PCDH10	4	133152283	Missense_Mutation	SNP	A	C3N-02582_TP	5264829	133152283	57062272	28	31709											
DNAH5	0	.	GRCh38	chr5	13844951	13844951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagggcaggatctgagacGaagaaaaaccgaggaaagca	19	2	14	6	2	1	3	0	1	1	3	1	8	1	5	1	3	2	2	1	3	5	0	rs749688197		C3N-02582_TP	C3N-02582_NB	G	G																c.5157C>T	p.=	p.F1719F	ENST00000265104	32/79	286	254	32	278	278	0	strelka-varscan-mutect	DNAH5,synonymous_variant,p.=,ENST00000265104,NM_001369.2;	A	ENST00000265104	Transcript	synonymous_variant	5262/15633	5157/13875	1719/4624	F	ttC/ttT	rs749688197,COSM3609121	1		-1	DNAH5	HGNC	HGNC:2950	protein_coding	YES	CCDS3882.1	ENSP00000265104	Q8TE73		UPI0000110101	NM_001369.2			32/79		hmmpanther:PTHR10676:SF240,hmmpanther:PTHR10676,Pfam_domain:PF08393											0,1						LOW	1	SNV	1		0,1	1										PASS		rs749688197	.												A	2	1	104	13844951	13844951	G	A	1	0	0	0	0	0	0	0	1	4419	1049	37	1		1	DNAH5	5	13844951	Silent	SNP	G	C3N-02582_TP		13844951	167693308	29	31710											
NIPBL	0	.	GRCh38	chr5	37027373	37027373	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaggttgcagcatgcagAgatactggatatgactggtt	10	12	12	7	0	0	2	0	1	0	1	0	4	0	3	1	3	4	5	1	3	3	5	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.5823A>G	p.=	p.R1941R	ENST00000282516	32/47	385	312	73	433	432	1	strelka-varscan-mutect	NIPBL,synonymous_variant,p.=,ENST00000282516,NM_133433.3;NIPBL,synonymous_variant,p.=,ENST00000448238,NM_015384.4;NIPBL,intron_variant,,ENST00000621733,;	G	ENST00000282516	Transcript	synonymous_variant	6322/10435	5823/8415	1941/2804	R	agA/agG		1		1	NIPBL	HGNC	HGNC:28862	protein_coding	YES	CCDS3920.1	ENSP00000282516	Q6KC79		UPI00003761B5	NM_133433.3			32/47		hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18,Superfamily_domains:SSF48371																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	104	37027373	37027373	A	G	1	0	0	0	0	0	0	0	1	10463	301	11	5		5	NIPBL	5	37027373	Silent	SNP	A	C3N-02582_TP	23182422	37027373	144510886	30	31711											
C5orf42	0	.	GRCh38	chr5	37184995	37184995	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacttcaaaagagcctataTttctctgcacacgttttaga	12	14	5	10	1	3	2	2	0	1	2	4	2	3	2	1	0	2	2	1	0	5	6	novel		C3N-02582_TP	C3N-02582_NB	T	T																c.4274A>G	p.Asn1425Ser	p.N1425S	ENST00000425232	25/52	272	218	54	309	309	0	strelka-varscan-mutect	C5orf42,missense_variant,p.Asn1425Ser,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Asn1425Ser,ENST00000508244,;C5orf42,missense_variant,p.Asn473Ser,ENST00000514429,;C5orf42,missense_variant,p.Asn430Ser,ENST00000509849,;	C	ENST00000425232	Transcript	missense_variant	4505/11199	4274/9594	1425/3197	N/S	aAt/aGt		1		-1	C5orf42	HGNC	HGNC:25801	protein_coding	YES	CCDS34146.2	ENSP00000389014	Q9H799		UPI0001AAB3EA	NM_023073.3	deleterious(0)		25/52		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF3																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	104	37184995	37184995	T	C	1	0	0	0	0	1	0	0	0	2100	1493	52	5		5	C5orf42	5	37184995	Missense_Mutation	SNP	T	C3N-02582_TP	157622	37184995	144353264	31	31712											
DHX29	0	.	GRCh38	chr5	55273374	55273374	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatgcagagctatcactttAtatctgaaagttaaaatcat	16	13	6	6	0	3	2	2	1	1	1	3	3	3	2	0	0	2	3	0	0	7	5	rs779785381		C3N-02582_TP	C3N-02582_NB	A	A																c.2694T>G	p.Tyr898Ter	p.Y898*	ENST00000251636	17/27	41	33	8	54	54	0	strelka-varscan-mutect	DHX29,stop_gained,p.Tyr898Ter,ENST00000251636,NM_019030.2;DHX29,stop_gained,p.Tyr898Ter,ENST00000621106,;RP11-506H20.1,intron_variant,,ENST00000506435,;DHX29,non_coding_transcript_exon_variant,,ENST00000504778,;DHX29,non_coding_transcript_exon_variant,,ENST00000513447,;	C	ENST00000251636	Transcript	stop_gained	2843/4502	2694/4110	898/1369	Y/*	taT/taG	rs779785381	1		-1	DHX29	HGNC	HGNC:15815	protein_coding	YES	CCDS34158.1	ENSP00000251636	Q7Z478		UPI00001AE72C	NM_019030.2			17/27		PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF139,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1										PASS		rs779785381	.												C	4	2	104	55273374	55273374	A	C	1	0	0	0	0	0	1	0	0	4307	463	16	5		5	DHX29	5	55273374	Nonsense_Mutation	SNP	A	C3N-02582_TP	18088379	55273374	126264885	32	31713											
ADGRV1	0	.	GRCh38	chr5	90685822	90685822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctaaggtagaaactattgCgcaactaattatcattgcca	14	11	7	9	1	1	1	1	0	0	1	1	1	1	1	2	1	4	2	2	1	7	7	rs186999408		C3N-02582_TP	C3N-02582_NB	C	C																c.6317C>T	p.Ala2106Val	p.A2106V	ENST00000405460	29/90	307	287	20	261	261	0	strelka-varscan-mutect	ADGRV1,missense_variant,p.Ala2106Val,ENST00000405460,NM_032119.3;	T	ENST00000405460	Transcript	missense_variant	6413/19338	6317/18921	2106/6306	A/V	gCg/gTg	rs186999408,COSM39595	1		1	ADGRV1	HGNC	HGNC:17416	protein_coding	YES	CCDS47246.1	ENSP00000384582	Q8WXG9		UPI00002127A7	NM_032119.3	deleterious(0)		29/90		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072										benign	0,1						MODERATE	1	SNV	1		1,1	1										PASS		rs186999408	.												T	3	4	104	90685822	90685822	C	T	1	0	0	0	0	1	0	0	0	379	768	27	1		1	ADGRV1	5	90685822	Missense_Mutation	SNP	C	C3N-02582_TP	35412448	90685822	90852437	33	31714											
LOX	0	.	GRCh38	chr5	122070585	122070585	+	Frame_Shift_Del	DEL	A	A	-																															tatcataacagccaggactcAatccctaagataaacaaaat																								novel		C3N-02582_TP	C3N-02582_NB	A	A																c.1040delT	p.Leu347Ter	p.L347*	ENST00000231004	5/7	55	48	7	127	127	0	sindel-varindel-pindel	LOX,frameshift_variant,p.Leu347Ter,ENST00000231004,NM_002317.5;LOX,non_coding_transcript_exon_variant,,ENST00000513319,;LOX,non_coding_transcript_exon_variant,,ENST00000505593,;SRFBP1,intron_variant,,ENST00000504881,;LOX,3_prime_UTR_variant,,ENST00000508067,;LOX,non_coding_transcript_exon_variant,,ENST00000503759,;	-	ENST00000231004	Transcript	frameshift_variant	1340/5102	1040/1254	347/417	L/X	tTg/tg		1		-1	LOX	HGNC	HGNC:6664	protein_coding	YES	CCDS4129.1	ENSP00000231004	P28300	D0PNI2	UPI000012EA87	NM_002317.5			5/7		hmmpanther:PTHR19331:SF3,hmmpanther:PTHR19331,Pfam_domain:PF01186,Prints_domain:PR00074																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	104	122070585	122070585	A	-	1	0	1	0	1	0	0	0	0	8800	144	5	0		0	LOX	5	122070585	Frame_Shift_Del	DEL	A	C3N-02582_TP	31384763	122070585	59467674	34	31715											
SH3RF2	0	.	GRCh38	chr5	146000161	146000161	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggagacagcttgatgagaAttggtaccagggggaaatca	13	7	14	7	1	1	3	1	2	0	2	1	6	1	4	2	4	2	2	2	4	3	3	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.482A>G	p.Asn161Ser	p.N161S	ENST00000511217	2/10	267	187	80	376	376	0	strelka-varscan-mutect	SH3RF2,missense_variant,p.Asn161Ser,ENST00000511217,;SH3RF2,missense_variant,p.Asn161Ser,ENST00000359120,NM_152550.3;AC005351.1,downstream_gene_variant,,ENST00000511152,;	G	ENST00000511217	Transcript	missense_variant	534/5607	482/2190	161/729	N/S	aAt/aGt		1		1	SH3RF2	HGNC	HGNC:26299	protein_coding	YES	CCDS4280.1	ENSP00000424497	Q8TEC5		UPI0000457366		deleterious(0)		2/10		PROSITE_profiles:PS50002,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF151,Gene3D:2.30.30.40,Pfam_domain:PF07653,SMART_domains:SM00326,Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	104	146000161	146000161	A	G	1	0	0	0	0	1	0	0	0	14518	101	4	5		5	SH3RF2	5	146000161	Missense_Mutation	SNP	A	C3N-02582_TP	23929576	146000161	35538098	35	31716											
NSD1	0	.	GRCh38	chr5	177135801	177135801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccattagctcctcagaCtgaaacacagaaaaataagc	16	8	6	11	0	1	3	1	1	0	2	2	3	2	3	2	0	4	1	2	0	5	3	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.698C>G	p.Thr233Ser	p.T233S	ENST00000439151	2/23	91	80	11	102	102	0	strelka-varscan-mutect	NSD1,missense_variant,p.Thr233Ser,ENST00000439151,NM_022455.4;NSD1,intron_variant,,ENST00000354179,NM_172349.2;NSD1,intron_variant,,ENST00000347982,;NSD1,intron_variant,,ENST00000511258,;NSD1,intron_variant,,ENST00000508896,;NSD1,intron_variant,,ENST00000510954,;NSD1,non_coding_transcript_exon_variant,,ENST00000602285,;NSD1,downstream_gene_variant,,ENST00000512992,;	G	ENST00000439151	Transcript	missense_variant	743/12892	698/8091	233/2696	T/S	aCt/aGt		1		1	NSD1	HGNC	HGNC:14234	protein_coding	YES	CCDS4412.1	ENSP00000395929	Q96L73		UPI000006F9C6	NM_022455.4	tolerated_low_confidence(0.11)		2/23																			MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	104	177135801	177135801	C	G	1	0	0	0	0	1	0	0	0	10728	565	20	4		4	NSD1	5	177135801	Missense_Mutation	SNP	C	C3N-02582_TP	31135640	177135801	4402458	36	31717											
FLT4	0	.	GRCh38	chr5	180631748	180631748	+	Frame_Shift_Del	DEL	G	G	-																															cctccgtgatgttcaaggtcGggggggtcatggagtagcca																										C3N-02582_TP	C3N-02582_NB	G	G																c.89delC	p.Pro30ArgfsTer3	p.P30Rfs*3	ENST00000261937	2/30	219	147	72	295	294	1	sindel-varindel-pindel	FLT4,frameshift_variant,p.Pro30ArgfsTer3,ENST00000261937,NM_182925.4;FLT4,frameshift_variant,p.Pro30ArgfsTer3,ENST00000393347,NM_002020.4;FLT4,frameshift_variant,p.Pro30ArgfsTer3,ENST00000502649,;FLT4,frameshift_variant,p.Pro30ArgfsTer3,ENST00000619105,;FLT4,non_coding_transcript_exon_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000502293,;FLT4,non_coding_transcript_exon_variant,,ENST00000513527,;FLT4,upstream_gene_variant,,ENST00000507059,;	-	ENST00000261937	Transcript	frameshift_variant	168/5857	89/4092	30/1363	P/X	cCg/cg	COSM296843,COSM296844,COSM4685088,COSM4685089	1		-1	FLT4	HGNC	HGNC:3767	protein_coding	YES	CCDS4457.1	ENSP00000261937	P35916		UPI00001488E7	NM_182925.4			2/30		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Superfamily_domains:SSF48726											1,1,1,1						HIGH	1	deletion	1		1,1,1,1	1										PASS		.	.												-	7	5	104	180631748	180631748	G	-	1	0	1	0	1	0	0	0	0	5800	1116	39	0		0	FLT4	5	180631748	Frame_Shift_Del	DEL	G	C3N-02582_TP	3495947	180631748	906511	37	31718											
RNF182	0	.	GRCh38	chr6	13977553	13977553	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagagctccccgtccctgaGctccactcctgtggtagaat	8	9	10	14	1	0	3	0	1	0	2	4	4	4	3	5	1	2	3	5	1	2	1	novel		C3N-02582_TP	C3N-02582_NB	G	G																c.434G>C	p.Ser145Thr	p.S145T	ENST00000488300	3/3	174	160	14	239	239	0	strelka-varscan-mutect	RNF182,missense_variant,p.Ser145Thr,ENST00000488300,NM_152737.3;RNF182,missense_variant,p.Ser145Thr,ENST00000544682,NM_001165032.1;RNF182,missense_variant,p.Ser145Thr,ENST00000537663,NM_001165034.1;RNF182,missense_variant,p.Ser145Thr,ENST00000537388,NM_001165033.1;RNF182,missense_variant,p.Ser145Thr,ENST00000420478,;RNF182,downstream_gene_variant,,ENST00000488763,;RNF182,downstream_gene_variant,,ENST00000423553,;RNF182,downstream_gene_variant,,ENST00000471906,;	C	ENST00000488300	Transcript	missense_variant	957/3706	434/744	145/247	S/T	aGc/aCc		1		1	RNF182	HGNC	HGNC:28522	protein_coding	YES	CCDS4531.1	ENSP00000420465	Q8N6D2	A0A024QZW5	UPI000006E1CA	NM_152737.3	tolerated(0.08)		3/3		hmmpanther:PTHR13139,hmmpanther:PTHR13139:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	104	13977553	13977553	G	C	1	0	0	0	0	1	0	0	0	13643	971	34	4		4	RNF182	6	13977553	Missense_Mutation	SNP	G	C3N-02582_TP		13977553	156828426	38	31719											
ZFP57	0	.	GRCh38	chr6	29672900	29672900	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggctctgtgaggtgggccTtctggtgtctggagagatag	5	11	18	7	1	3	2	0	1	3	1	3	4	3	3	1	5	0	1	1	5	1	2			C3N-02582_TP	C3N-02582_NB	T	T																c.1211A>G	p.Lys404Arg	p.K404R	ENST00000488757	4/4	665	618	47	845	845	0	strelka-varscan-mutect	ZFP57,missense_variant,p.Lys384Arg,ENST00000376883,;ZFP57,missense_variant,p.Lys404Arg,ENST00000488757,NM_001109809.2;ZFP57,missense_variant,p.Lys320Arg,ENST00000376881,;MOG,downstream_gene_variant,,ENST00000376894,;MOG,downstream_gene_variant,,ENST00000376917,NM_206809.3;MOG,downstream_gene_variant,,ENST00000431798,NM_206812.3;MOG,downstream_gene_variant,,ENST00000376888,NM_206814.5;MOG,downstream_gene_variant,,ENST00000376898,NM_002433.4;MOG,downstream_gene_variant,,ENST00000494692,NM_206811.3;MOG,downstream_gene_variant,,ENST00000396701,NM_206810.3;MOG,downstream_gene_variant,,ENST00000376891,NM_001008229.2;MOG,downstream_gene_variant,,ENST00000396704,NM_001008228.2;MOG,downstream_gene_variant,,ENST00000416766,;MOG,downstream_gene_variant,,ENST00000490427,NM_001170418.1;MOG,downstream_gene_variant,,ENST00000483013,;MOG,downstream_gene_variant,,ENST00000376889,;MOG,downstream_gene_variant,,ENST00000485211,;MOG,downstream_gene_variant,,ENST00000485885,;	C	ENST00000488757	Transcript	missense_variant	1362/1870	1211/1611	404/536	K/R	aAg/aGg	COSM5441985	1		-1	ZFP57	HGNC	HGNC:18791	protein_coding	YES	CCDS43436.2	ENSP00000418259	Q9NU63		UPI0001951170	NM_001109809.2	tolerated(0.09)		4/4		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF179,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		.	.												C	3	2	104	29672900	29672900	T	C	1	0	0	0	0	1	0	0	0	18226	1609	56	5		5	ZFP57	6	29672900	Missense_Mutation	SNP	T	C3N-02582_TP	15695347	29672900	141133079	39	31720											
BRD2	0	.	GRCh38	chr6	32980693	32980693	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcgtcgtcgtcttcagAcaccagtgattcagactcag	8	12	8	13	3	4	3	3	1	1	2	8	3	5	3	2	0	0	0	2	0	0	3	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.2486A>T	p.Asp829Val	p.D829V	ENST00000395287	13/13	219	206	13	220	220	0	strelka-varscan-mutect	BRD2,missense_variant,p.Asp794Val,ENST00000374825,NM_005104.3;BRD2,missense_variant,p.Asp794Val,ENST00000374831,NM_001113182.2;BRD2,missense_variant,p.Asp829Val,ENST00000395287,NM_001199455.1;BRD2,missense_variant,p.Asp800Val,ENST00000449025,;BRD2,missense_variant,p.Asp747Val,ENST00000449085,NM_001291986.1,NM_001199456.1;BRD2,downstream_gene_variant,,ENST00000607833,;BRD2,downstream_gene_variant,,ENST00000456339,;BRD2,downstream_gene_variant,,ENST00000606059,;BRD2,3_prime_UTR_variant,,ENST00000482914,;BRD2,non_coding_transcript_exon_variant,,ENST00000469132,;BRD2,non_coding_transcript_exon_variant,,ENST00000482838,;BRD2,downstream_gene_variant,,ENST00000495733,;BRD2,downstream_gene_variant,,ENST00000464592,;BRD2,downstream_gene_variant,,ENST00000463639,;BRD2,downstream_gene_variant,,ENST00000481259,;	T	ENST00000395287	Transcript	missense_variant	2655/3467	2486/2511	829/836	D/V	gAc/gTc		1		1	BRD2	HGNC	HGNC:1103	protein_coding	YES	CCDS56420.1	ENSP00000378702	P25440		UPI0000227E6A	NM_001199455.1	deleterious_low_confidence(0.01)		13/13		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF126,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1184085354	.												T	3	4	104	32980693	32980693	A	T	1	0	0	0	0	1	0	0	0	1672	275	10	4		4	BRD2	6	32980693	Missense_Mutation	SNP	A	C3N-02582_TP	3307793	32980693	137825286	40	31721											
RFX6	0	.	GRCh38	chr6	116919143	116919143	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccttctttgtagcttattAgcagacataagaaattttgc	12	15	7	7	0	1	2	0	0	1	2	1	2	1	2	1	0	4	3	1	0	5	8	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.1029A>T	p.Leu343Phe	p.L343F	ENST00000332958	11/19	175	164	11	257	257	0	strelka-varscan-mutect	RFX6,missense_variant,p.Leu343Phe,ENST00000332958,NM_173560.3;RFX6,downstream_gene_variant,,ENST00000471966,;RFX6,non_coding_transcript_exon_variant,,ENST00000487683,;	T	ENST00000332958	Transcript	missense_variant	1045/3460	1029/2787	343/928	L/F	ttA/ttT		1		1	RFX6	HGNC	HGNC:21478	protein_coding	YES	CCDS5113.1	ENSP00000332208	Q8HWS3		UPI00001609BE	NM_173560.3	deleterious(0.01)		11/19		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF28																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	104	116919143	116919143	A	T	1	0	0	0	0	1	0	0	0	13441	417	15	4		4	RFX6	6	116919143	Missense_Mutation	SNP	A	C3N-02582_TP	83938450	116919143	53886836	41	31722											
ARHGAP18	0	.	GRCh38	chr6	129600775	129600775	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagattcggggccatgaccAttgctacattcatgactgtc	10	11	10	10	1	1	3	1	2	0	1	3	4	1	3	2	2	2	1	2	2	1	4	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.1439T>A	p.Met480Lys	p.M480K	ENST00000368149	11/15	238	204	34	340	340	0	strelka-varscan-mutect	ARHGAP18,missense_variant,p.Met480Lys,ENST00000368149,NM_033515.2;ARHGAP18,upstream_gene_variant,,ENST00000463225,;ARHGAP18,upstream_gene_variant,,ENST00000483367,;	T	ENST00000368149	Transcript	missense_variant	1528/4462	1439/1992	480/663	M/K	aTg/aAg		1		-1	ARHGAP18	HGNC	HGNC:21035	protein_coding	YES	CCDS34535.1	ENSP00000357131	Q8N392		UPI000020E208	NM_033515.2	deleterious(0.01)		11/15		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF6,SMART_domains:SM00324,Superfamily_domains:SSF48350																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	104	129600775	129600775	A	T	1	0	0	0	0	1	0	0	0	992	217	8	4		4	ARHGAP18	6	129600775	Missense_Mutation	SNP	A	C3N-02582_TP	12681632	129600775	41205204	42	31723											
MED23	0	.	GRCh38	chr6	131620701	131620701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aataggctggtaataagcagGcatttctttccaagatatat	14	13	8	6	0	1	1	0	0	1	1	2	1	2	1	1	3	1	4	1	3	7	7	novel		C3N-02582_TP	C3N-02582_NB	G	G																c.524C>T	p.Ala175Val	p.A175V	ENST00000368068	7/29	317	279	38	318	317	1	strelka-varscan-mutect	MED23,missense_variant,p.Ala175Val,ENST00000368068,NM_004830.3;MED23,missense_variant,p.Ala175Val,ENST00000354577,NM_015979.3,NM_001270521.1;MED23,missense_variant,p.Ala175Val,ENST00000368058,;MED23,missense_variant,p.Ala175Val,ENST00000368060,NM_001270522.1;MED23,missense_variant,p.Ala175Val,ENST00000368053,;MED23,missense_variant,p.Ala175Val,ENST00000539158,;	A	ENST00000368068	Transcript	missense_variant	704/5233	524/4107	175/1368	A/V	gCc/gTc		1		-1	MED23	HGNC	HGNC:2372	protein_coding	YES	CCDS5147.1	ENSP00000357047	Q9ULK4		UPI000012855F	NM_004830.3	tolerated(0.29)		7/29		Pfam_domain:PF11573,hmmpanther:PTHR12691,hmmpanther:PTHR12691:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	104	131620701	131620701	G	A	1	0	0	0	0	1	0	0	0	9380	1203	42	3		3	MED23	6	131620701	Missense_Mutation	SNP	G	C3N-02582_TP	2019926	131620701	39185278	43	31724											
VNN1	0	.	GRCh38	chr6	132683225	132683225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaggcctgatgaagcatttGatgcccagtccttctcatac	9	12	9	11	0	1	4	1	4	1	0	3	4	2	4	3	1	3	1	3	1	2	3			C3N-02582_TP	C3N-02582_NB	G	G																c.1457C>T	p.Ser486Leu	p.S486L	ENST00000367928	7/7	279	262	17	282	282	0	strelka-varscan-mutect	VNN1,missense_variant,p.Ser486Leu,ENST00000367928,NM_004666.2;	A	ENST00000367928	Transcript	missense_variant	1471/3106	1457/1542	486/513	S/L	tCa/tTa	COSM79316	1		-1	VNN1	HGNC	HGNC:12705	protein_coding	YES	CCDS5159.1	ENSP00000356905	O95497		UPI000013C91E	NM_004666.2	tolerated(0.76)		7/7		hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF16,PIRSF_domain:PIRSF011861											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	104	132683225	132683225	G	A	1	0	0	0	0	1	0	0	0	17729	1294	45	3		3	VNN1	6	132683225	Missense_Mutation	SNP	G	C3N-02582_TP	1062524	132683225	38122754	44	31725											
HBS1L	0	.	GRCh38	chr6	135050636	135050636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactggccgtagagatcatCatcttcaaaatctaaaataa	17	10	6	8	1	5	2	3	0	2	2	5	3	5	2	1	1	0	1	1	1	6	4	rs772534723		C3N-02582_TP	C3N-02582_NB	C	C																c.55G>A	p.Asp19Asn	p.D19N	ENST00000367837	2/18	213	201	12	164	164	0	strelka-varscan-mutect	HBS1L,missense_variant,p.Asp19Asn,ENST00000367837,NM_006620.3;HBS1L,missense_variant,p.Asp19Asn,ENST00000367822,NM_001145207.1;HBS1L,missense_variant,p.Asp19Asn,ENST00000367826,NM_001145158.1;HBS1L,missense_variant,p.Asp19Asn,ENST00000415177,;HBS1L,missense_variant,p.Asp19Asn,ENST00000314674,;HBS1L,missense_variant,p.Asp19Asn,ENST00000367820,;HBS1L,missense_variant,p.Asp34Asn,ENST00000529882,;HBS1L,intron_variant,,ENST00000525067,;HBS1L,intron_variant,,ENST00000524715,;HBS1L,upstream_gene_variant,,ENST00000533274,;CTA-212D2.2,upstream_gene_variant,,ENST00000447508,;HBS1L,missense_variant,p.Asp4Asn,ENST00000526100,;	T	ENST00000367837	Transcript	missense_variant	262/7163	55/2055	19/684	D/N	Gat/Aat	rs772534723	1		-1	HBS1L	HGNC	HGNC:4834	protein_coding	YES	CCDS5173.1	ENSP00000356811	Q9Y450	D9YZV0	UPI00000372EA	NM_006620.3	tolerated(0.06)		2/18		PD278081																	MODERATE	1	SNV	1			1										PASS		rs772534723	.												T	3	4	104	135050636	135050636	C	T	1	0	0	0	0	1	0	0	0	6873	826	29	3		3	HBS1L	6	135050636	Missense_Mutation	SNP	C	C3N-02582_TP	2367411	135050636	35755343	45	31726			1	36		2	2	13	C		4.157589e-05
HBS1L	0	.	GRCh38	chr6	135050648	135050648	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagatcatcatcttcaaaatCtaaaataaagacaaaagaga	22	8	5	6	0	5	3	3	0	2	3	5	5	5	3	0	0	0	0	0	0	8	3	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.44-1G>A		p.X15_splice	ENST00000367837		180	171	9	144	144	0	strelka-varscan-mutect	HBS1L,splice_acceptor_variant,,ENST00000367837,NM_006620.3;HBS1L,splice_acceptor_variant,,ENST00000367822,NM_001145207.1;HBS1L,splice_acceptor_variant,,ENST00000367826,NM_001145158.1;HBS1L,splice_acceptor_variant,,ENST00000415177,;HBS1L,splice_acceptor_variant,,ENST00000314674,;HBS1L,splice_acceptor_variant,,ENST00000367820,;HBS1L,splice_acceptor_variant,,ENST00000529882,;HBS1L,intron_variant,,ENST00000525067,;HBS1L,intron_variant,,ENST00000524715,;HBS1L,upstream_gene_variant,,ENST00000533274,;CTA-212D2.2,upstream_gene_variant,,ENST00000447508,;HBS1L,upstream_gene_variant,,ENST00000526100,;	T	ENST00000367837	Transcript	splice_acceptor_variant	-/7163	44/2055	15/684				1		-1	HBS1L	HGNC	HGNC:4834	protein_coding	YES	CCDS5173.1	ENSP00000356811	Q9Y450	D9YZV0	UPI00000372EA	NM_006620.3				1/17																		HIGH	1	SNV	1			1										PASS		.	.												T	5	4	104	135050648	135050648	C	T	1	0	0	0	0	0	0	1	0	6873	927	32	3		3	HBS1L	6	135050648	Splice_Site	SNP	C	C3N-02582_TP	12	135050648	35755331	46	31727			1	36		2	2	13	C		4.157589e-05
UTRN	0	.	GRCh38	chr6	144840784	144840784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcacgacaccagcacggatCtcacggaggtcatggagcag	11	4	13	13	4	2	0	2	0	1	0	3	4	2	3	1	4	2	3	1	4	0	0	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.10222C>T	p.Leu3408Phe	p.L3408F	ENST00000367545	72/74	439	370	69	329	329	0	strelka-varscan-mutect	UTRN,missense_variant,p.Leu3408Phe,ENST00000367545,NM_007124.2;UTRN,missense_variant,p.Leu963Phe,ENST00000367526,;UTRN,downstream_gene_variant,,ENST00000417142,;UTRN,downstream_gene_variant,,ENST00000455022,;UTRN,non_coding_transcript_exon_variant,,ENST00000460618,;UTRN,downstream_gene_variant,,ENST00000465299,;	T	ENST00000367545	Transcript	missense_variant	10222/12339	10222/10302	3408/3433	L/F	Ctc/Ttc		1		1	UTRN	HGNC	HGNC:12635	protein_coding	YES	CCDS34547.1	ENSP00000356515	P46939		UPI00003673F1	NM_007124.2	deleterious(0)		72/74		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF225																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	104	144840784	144840784	C	T	1	0	0	0	0	1	0	0	0	17647	913	32	3		3	UTRN	6	144840784	Missense_Mutation	SNP	C	C3N-02582_TP	9790136	144840784	25965195	47	31728											
OGDH	0	.	GRCh38	chr7	44697626	44697626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgagctgggcttcgccatGgccagtcctaatgccctggt	5	12	12	12	1	0	1	0	1	0	0	2	1	1	1	4	3	2	2	4	3	1	3	novel		C3N-02582_TP	C3N-02582_NB	G	G																c.2202G>A	p.Met734Ile	p.M734I	ENST00000222673	17/23	204	157	47	232	232	0	strelka-varscan-mutect	OGDH,missense_variant,p.Met734Ile,ENST00000222673,NM_002541.3;OGDH,missense_variant,p.Met733Ile,ENST00000631326,;OGDH,missense_variant,p.Met730Ile,ENST00000449767,NM_001165036.1;OGDH,missense_variant,p.Met745Ile,ENST00000447398,;OGDH,missense_variant,p.Met749Ile,ENST00000444676,;OGDH,missense_variant,p.Met584Ile,ENST00000439616,;	A	ENST00000222673	Transcript	missense_variant	2244/4181	2202/3072	734/1023	M/I	atG/atA		1		1	OGDH	HGNC	HGNC:8124	protein_coding	YES	CCDS34627.1	ENSP00000222673	Q02218		UPI000006D5FE	NM_002541.3	tolerated(0.06)		17/23		Gene3D:3.40.50.970,Pfam_domain:PF02779,PIRSF_domain:PIRSF000157,hmmpanther:PTHR23152,hmmpanther:PTHR23152:SF7,SMART_domains:SM00861,Superfamily_domains:SSF52518,TIGRFAM_domain:TIGR00239																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	104	44697626	44697626	G	A	1	0	0	0	0	1	0	0	0	10913	1362	47	3		3	OGDH	7	44697626	Missense_Mutation	SNP	G	C3N-02582_TP		44697626	114648347	48	31729											
EGFR	0	.	GRCh38	chr7	55174773	55174787	+	In_Frame_Del	DEL	GAATTAAGAGAAGCA	GAATTAAGAGAAGCA	-																															aaattcccgtcgctatcaagGaattaagagaagcaacatct																								rs727504233		C3N-02582_TP	C3N-02582_NB	GAATTAAGAGAAGCA	GAATTAAGAGAAGCA																c.2236_2250delGAATTAAGAGAAGCA	p.Glu746_Ala750del	p.E746_A750del	ENST00000275493	19/28	721	287	434	599	599	0	sindel-varindel-pindel	EGFR,inframe_deletion,p.Glu746_Ala750del,ENST00000275493,NM_005228.3;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000454757,;EGFR,inframe_deletion,p.Glu701_Ala705del,ENST00000455089,;EGFR,downstream_gene_variant,,ENST00000344576,NM_201284.1;EGFR-AS1,downstream_gene_variant,,ENST00000442411,;	-	ENST00000275493	Transcript	inframe_deletion	2413-2427/9821	2236-2250/3633	746-750/1210	ELREA/-	GAATTAAGAGAAGCA/-	rs727504233,COSM6225	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3			19/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1						MODERATE	1	deletion	1		1,1	1										PASS		.	.												-	7	5	104	55174773	55174773	GAATTAAGAGAAGCA	-	1	0	1	0	1	0	0	0	0	4803	1175	41	0		0	EGFR	7	55174773	In_Frame_Del	DEL	GAATTAAGAGAAGCA	C3N-02582_TP	10477147	55174773	104171200	49	31730											
ZNF655	0	.	GRCh38	chr7	99572370	99572371	+	Frame_Shift_Ins	INS	-	-	TA																															ccaagttcctgagactagagINSaagtgtataagtctgaggac																								novel		C3N-02582_TP	C3N-02582_NB	-	-																c.367_368insTA	p.Glu123ValfsTer10	p.E123Vfs*10	ENST00000424881	4/4	154	127	27	237	237	0	sindel-varindel-pindel	ZNF655,frameshift_variant,p.Glu123ValfsTer10,ENST00000424881,NM_001085368.1;ZNF655,frameshift_variant,p.Glu88ValfsTer10,ENST00000394163,NM_001009960.1;ZNF655,frameshift_variant,p.Glu88ValfsTer10,ENST00000252713,NM_138494.2;ZNF655,frameshift_variant,p.Glu123ValfsTer10,ENST00000493277,NM_001083956.1;ZNF655,frameshift_variant,p.Glu123ValfsTer10,ENST00000422164,;ZNF655,3_prime_UTR_variant,,ENST00000425063,;ZNF655,downstream_gene_variant,,ENST00000626122,;ZNF655,downstream_gene_variant,,ENST00000422647,;ZNF655,downstream_gene_variant,,ENST00000454654,;ZNF655,downstream_gene_variant,,ENST00000427931,;ZNF655,downstream_gene_variant,,ENST00000449244,;ZNF655,non_coding_transcript_exon_variant,,ENST00000419215,;GS1-259H13.13,intron_variant,,ENST00000486324,;ZNF655,non_coding_transcript_exon_variant,,ENST00000494357,;GS1-259H13.13,intron_variant,,ENST00000455905,;ZNF655,downstream_gene_variant,,ENST00000412636,;ZNF655,downstream_gene_variant,,ENST00000493947,;	TA	ENST00000424881	Transcript	frameshift_variant	587-588/4666	367-368/1581	123/526	E/VX	gaa/gTAaa		1		1	ZNF655	HGNC	HGNC:30899	protein_coding	YES	CCDS47655.1	ENSP00000393876	Q8N720		UPI000020F66D	NM_001085368.1			4/4		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF284																	HIGH	1	insertion	2			1										PASS		.	.												TA	7	5	104	99572370	99572370	-	TA	1	0	1	1	0	0	0	0	0	18641	943	33	0		0	ZNF655	7	99572370	Frame_Shift_Ins	INS	-	C3N-02582_TP	44397597	99572370	59773603	50	31731											
ORC5	0	.	GRCh38	chr7	104200876	104200876	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccatcctctgaagaactaAgatgattcaatttgtttaaa	15	14	5	7	0	2	4	1	2	1	2	4	4	4	4	2	0	1	1	2	0	6	5	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.248T>G	p.Leu83Arg	p.L83R	ENST00000297431	3/14	182	167	15	284	283	1	strelka-varscan-mutect	ORC5,missense_variant,p.Leu83Arg,ENST00000297431,NM_002553.3;ORC5,missense_variant,p.Leu83Arg,ENST00000447452,NM_181747.3;ORC5,downstream_gene_variant,,ENST00000626700,;ORC5,non_coding_transcript_exon_variant,,ENST00000485726,;ORC5,upstream_gene_variant,,ENST00000463152,;ORC5,3_prime_UTR_variant,,ENST00000422497,;ORC5,3_prime_UTR_variant,,ENST00000448563,;	C	ENST00000297431	Transcript	missense_variant	391/1958	248/1308	83/435	L/R	cTt/cGt		1		-1	ORC5	HGNC	HGNC:8491	protein_coding	YES	CCDS5734.1	ENSP00000297431	O43913	A4D0P7	UPI0000001C1C	NM_002553.3	tolerated(0.36)		3/14		hmmpanther:PTHR12705,Pfam_domain:PF13191,Gene3D:3.40.50.300,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	104	104200876	104200876	A	C	1	0	0	0	0	1	0	0	0	11331	72	3	5		5	ORC5	7	104200876	Missense_Mutation	SNP	A	C3N-02582_TP	4628506	104200876	55145097	51	31732											
THAP5	0	.	GRCh38	chr7	108564978	108564978	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgttgatggggcacaTctgtgttaactatatttttc	8	17	10	6	0	1	1	0	1	1	0	2	2	1	2	0	3	1	3	0	3	3	6			C3N-02582_TP	C3N-02582_NB	T	T																c.401A>T	p.Asp134Val	p.D134V	ENST00000415914	3/3	159	129	30	262	262	0	strelka-varscan-mutect	THAP5,missense_variant,p.Asp134Val,ENST00000415914,NM_001130475.2;THAP5,missense_variant,p.Asp92Val,ENST00000313516,NM_182529.3;THAP5,3_prime_UTR_variant,,ENST00000438865,;DNAJB9,upstream_gene_variant,,ENST00000249356,NM_012328.2;THAP5,non_coding_transcript_exon_variant,,ENST00000493722,;PNPLA8,intron_variant,,ENST00000489738,;THAP5,intron_variant,,ENST00000468884,;THAP5,downstream_gene_variant,,ENST00000412935,;THAP5,downstream_gene_variant,,ENST00000446771,;THAP5,downstream_gene_variant,,ENST00000484452,;DNAJB9,upstream_gene_variant,,ENST00000491582,;	A	ENST00000415914	Transcript	missense_variant	555/3306	401/1188	134/395	D/V	gAt/gTt	COSM3941957	1		-1	THAP5	HGNC	HGNC:23188	protein_coding	YES	CCDS47687.1	ENSP00000400500	Q7Z6K1		UPI00003E4106	NM_001130475.2	tolerated(0.14)		3/3		hmmpanther:PTHR23080,hmmpanther:PTHR23080:SF77											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	104	108564978	108564978	T	A	1	0	0	0	0	1	0	0	0	16280	1435	50	4		4	THAP5	7	108564978	Missense_Mutation	SNP	T	C3N-02582_TP	4364102	108564978	50780995	52	31733											
FOXP2	0	.	GRCh38	chr7	114570816	114570816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttaacctaggaattgcttCcagaaacaaaattatgtatc	15	13	6	7	0	0	1	0	0	0	1	2	2	1	2	2	1	3	3	2	1	8	7	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.268C>A	p.Pro90Thr	p.P90T	ENST00000408937	4/18	270	254	16	316	315	1	strelka-varscan-mutect	FOXP2,missense_variant,p.Pro90Thr,ENST00000408937,NM_148898.3;FOXP2,missense_variant,p.Pro89Thr,ENST00000390668,NM_001172767.2;FOXP2,intron_variant,,ENST00000403559,NM_148900.3;FOXP2,intron_variant,,ENST00000393491,;FOXP2,intron_variant,,ENST00000635534,;FOXP2,intron_variant,,ENST00000634411,;FOXP2,intron_variant,,ENST00000393494,;FOXP2,intron_variant,,ENST00000350908,NM_001172766.2,NM_014491.3;FOXP2,intron_variant,,ENST00000393498,;FOXP2,intron_variant,,ENST00000635638,;FOXP2,intron_variant,,ENST00000393489,;FOXP2,intron_variant,,ENST00000378237,;FOXP2,intron_variant,,ENST00000634623,;FOXP2,intron_variant,,ENST00000360232,NM_148899.3;FOXP2,intron_variant,,ENST00000393495,;FOXP2,intron_variant,,ENST00000452963,;FOXP2,non_coding_transcript_exon_variant,,ENST00000459666,;FOXP2,3_prime_UTR_variant,,ENST00000412402,;FOXP2,intron_variant,,ENST00000441290,;FOXP2,intron_variant,,ENST00000635109,;FOXP2,intron_variant,,ENST00000440349,;	A	ENST00000408937	Transcript	missense_variant	642/6443	268/2223	90/740	P/T	Cca/Aca		1		1	FOXP2	HGNC	HGNC:13875	protein_coding	YES	CCDS43635.1	ENSP00000386200	O15409	X5D2H2	UPI000007412B	NM_148898.3	tolerated_low_confidence(0.23)		4/18																			MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	104	114570816	114570816	C	A	1	0	0	0	0	1	0	0	0	5892	855	30	2		2	FOXP2	7	114570816	Missense_Mutation	SNP	C	C3N-02582_TP	6005838	114570816	44775157	53	31734											
CADPS2	0	.	GRCh38	chr7	122320230	122320230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcctcctccttctgaaaCagaggctgtggcctcctcta	8	11	8	14	0	2	2	0	1	2	1	6	2	6	2	5	2	1	1	5	2	3	2	rs779920720		C3N-02582_TP	C3N-02582_NB	C	C																c.3826G>C	p.Val1276Leu	p.V1276L	ENST00000449022	30/30	155	145	10	160	160	0	strelka-varscan-mutect	CADPS2,missense_variant,p.Val1281Leu,ENST00000615869,;CADPS2,missense_variant,p.Val1174Leu,ENST00000313070,NM_001167940.1;CADPS2,missense_variant,p.Val1274Leu,ENST00000334010,;CADPS2,missense_variant,p.Val1235Leu,ENST00000412584,NM_001009571.3;CADPS2,missense_variant,p.Val1276Leu,ENST00000449022,NM_017954.10;CADPS2,missense_variant,p.Val879Leu,ENST00000397721,;CADPS2,missense_variant,p.Val470Leu,ENST00000462699,;	G	ENST00000449022	Transcript	missense_variant	3846/4073	3826/3891	1276/1296	V/L	Gtt/Ctt	rs779920720	1		-1	CADPS2	HGNC	HGNC:16018	protein_coding	YES	CCDS55158.1	ENSP00000398481	Q86UW7		UPI0000668808	NM_017954.10	tolerated(0.3)		30/30		hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF7																	MODERATE	1	SNV	5			1										PASS		rs779920720	.												G	3	3	104	122320230	122320230	C	G	1	0	0	0	0	1	0	0	0	2261	478	17	4		4	CADPS2	7	122320230	Missense_Mutation	SNP	C	C3N-02582_TP	7749414	122320230	37025743	54	31735											
BRAF	0	.	GRCh38	chr7	140924686	140924686	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgccgccaccaccgccAccgctcagcgccgccatctt	5	5	8	23	7	2	0	1	0	1	0	3	0	3	0	9	0	1	1	9	0	0	1	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.18T>C	p.=	p.G6G	ENST00000288602	1/18	206	194	12	213	213	0	strelka-varscan-mutect	BRAF,synonymous_variant,p.=,ENST00000288602,NM_004333.4;BRAF,non_coding_transcript_exon_variant,,ENST00000469930,;BRAF,upstream_gene_variant,,ENST00000497784,;	G	ENST00000288602	Transcript	synonymous_variant	79/2480	18/2301	6/766	G	ggT/ggC		1		-1	BRAF	HGNC	HGNC:1097	protein_coding	YES	CCDS5863.1	ENSP00000288602	P15056		UPI000013DF26	NM_004333.4			1/18		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	104	140924686	140924686	A	G	1	0	0	0	0	0	0	0	1	1665	146	6	5		5	BRAF	7	140924686	Silent	SNP	A	C3N-02582_TP	18604456	140924686	18421287	55	31736											
CNTNAP2	0	.	GRCh38	chr7	146839863	146839863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctctacagcgacacaGggagaaactggaaaccctat	14	6	11	10	1	1	1	0	0	1	1	1	5	1	3	1	3	5	1	1	3	4	2			C3N-02582_TP	C3N-02582_NB	G	G																c.361G>T	p.Gly121Trp	p.G121W	ENST00000361727	3/24	288	269	19	339	339	0	strelka-varscan-mutect	CNTNAP2,missense_variant,p.Gly121Trp,ENST00000361727,NM_014141.5;CNTNAP2,downstream_gene_variant,,ENST00000625365,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637694,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000638117,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000636561,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000637150,;	T	ENST00000361727	Transcript	missense_variant	879/9896	361/3996	121/1331	G/W	Ggg/Tgg	COSM122241	1		1	CNTNAP2	HGNC	HGNC:13830	protein_coding	YES	CCDS5889.1	ENSP00000354778	Q9UHC6	A0A090N7T7	UPI00001285FA	NM_014141.5	deleterious(0)		3/24		Gene3D:2.60.120.260,Pfam_domain:PF00754,PROSITE_profiles:PS50022,SMART_domains:SM00231,Superfamily_domains:SSF49785											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	104	146839863	146839863	G	T	1	0	0	0	0	1	0	0	0	3428	1000	35	2		2	CNTNAP2	7	146839863	Missense_Mutation	SNP	G	C3N-02582_TP	5915177	146839863	12506110	56	31737											
C8orf46	0	.	GRCh38	chr8	66516028	66516028	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtggacaaggcacaagaaGaagtctgaatatgtgggagc	15	7	14	5	0	1	3	0	1	1	2	1	5	1	5	0	3	1	1	0	3	6	1	novel		C3N-02582_TP	C3N-02582_NB	G	G																c.576G>C	p.Lys192Asn	p.K192N	ENST00000305454	6/6	196	170	26	143	143	0	strelka-varscan-mutect	C8orf46,missense_variant,p.Lys192Asn,ENST00000305454,NM_152765.3;C8orf46,3_prime_UTR_variant,,ENST00000522977,;C8orf46,downstream_gene_variant,,ENST00000480005,;C8orf46,downstream_gene_variant,,ENST00000521495,;C8orf46,downstream_gene_variant,,ENST00000482608,;C8orf46,downstream_gene_variant,,ENST00000519702,;C8orf46,downstream_gene_variant,,ENST00000485639,;C8orf46,3_prime_UTR_variant,,ENST00000460144,;C8orf46,3_prime_UTR_variant,,ENST00000450307,;	C	ENST00000305454	Transcript	missense_variant	1017/3513	576/624	192/207	K/N	aaG/aaC		1		1	C8orf46	HGNC	HGNC:28498	protein_coding	YES	CCDS6191.2	ENSP00000302260	Q8TAG6		UPI00003750A4	NM_152765.3	deleterious(0)		6/6		Pfam_domain:PF15505,hmmpanther:PTHR31520																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	104	66516028	66516028	G	C	1	0	0	0	0	1	0	0	0	2159	933	33	4		4	C8orf46	8	66516028	Missense_Mutation	SNP	G	C3N-02582_TP		66516028	78622608	57	31738											
PEX2	0	.	GRCh38	chr8	76984109	76984109	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccagggccttgtttagttCaagtgcatccaactggctta	8	13	9	11	0	1	0	1	0	0	0	3	0	3	0	3	2	2	4	3	2	4	5	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.70G>C	p.Glu24Gln	p.E24Q	ENST00000357039	4/4	113	76	37	130	130	0	strelka-varscan-mutect	PEX2,missense_variant,p.Glu24Gln,ENST00000357039,NM_000318.2,NM_001172086.1;PEX2,missense_variant,p.Glu24Gln,ENST00000522527,NM_001079867.1;PEX2,missense_variant,p.Glu24Gln,ENST00000520103,NM_001172087.1;PEX2,missense_variant,p.Glu24Gln,ENST00000518986,;PEX2,downstream_gene_variant,,ENST00000519956,;PEX2,downstream_gene_variant,,ENST00000520203,;	G	ENST00000357039	Transcript	missense_variant	466/4317	70/918	24/305	E/Q	Gaa/Caa		1		-1	PEX2	HGNC	HGNC:9717	protein_coding	YES	CCDS6221.1	ENSP00000349543	P28328		UPI000013E3FB	NM_000318.2,NM_001172086.1	deleterious(0.05)		4/4		PD124462																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	104	76984109	76984109	C	G	1	0	0	0	0	1	0	0	0	11835	835	29	4		4	PEX2	8	76984109	Missense_Mutation	SNP	C	C3N-02582_TP	10468081	76984109	68154527	58	31739											
ESRP1	0	.	GRCh38	chr8	94671651	94671651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atattcgtactcatggggttCacatggttttgaatcaccag	10	14	9	8	1	3	1	3	1	0	0	4	1	3	1	1	3	1	3	1	3	3	6	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.1432C>T	p.His478Tyr	p.H478Y	ENST00000433389	11/16	270	220	50	189	189	0	strelka-varscan-mutect	ESRP1,missense_variant,p.His478Tyr,ENST00000433389,NM_017697.3;ESRP1,missense_variant,p.His478Tyr,ENST00000358397,NM_001034915.2;ESRP1,missense_variant,p.His478Tyr,ENST00000423620,NM_001122826.1;ESRP1,missense_variant,p.His478Tyr,ENST00000454170,NM_001122825.1,NM_001122827.1;ESRP1,missense_variant,p.His344Tyr,ENST00000519505,;ESRP1,missense_variant,p.His337Tyr,ENST00000517610,;ESRP1,downstream_gene_variant,,ENST00000517556,;	T	ENST00000433389	Transcript	missense_variant	1622/3770	1432/2046	478/681	H/Y	Cac/Tac		1		1	ESRP1	HGNC	HGNC:25966	protein_coding	YES	CCDS47897.1	ENSP00000405738	Q6NXG1		UPI0000210327	NM_017697.3	deleterious(0)		11/16		hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	104	94671651	94671651	C	T	1	0	0	0	0	1	0	0	0	5120	826	29	3		3	ESRP1	8	94671651	Missense_Mutation	SNP	C	C3N-02582_TP	17687542	94671651	50466985	59	31740			2	37		2	2	16	C		5.196959e-05
ESRP1	0	.	GRCh38	chr8	94671666	94671666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggttcacatggttttgaatCaccaggtaagaaagatactt	13	12	10	6	0	2	3	2	1	0	2	2	3	2	3	1	3	1	3	1	3	4	6			C3N-02582_TP	C3N-02582_NB	C	C																c.1447C>T	p.His483Tyr	p.H483Y	ENST00000433389	11/16	227	185	42	153	153	0	strelka-varscan-mutect	ESRP1,missense_variant,p.His483Tyr,ENST00000433389,NM_017697.3;ESRP1,missense_variant,p.His483Tyr,ENST00000358397,NM_001034915.2;ESRP1,missense_variant,p.His483Tyr,ENST00000423620,NM_001122826.1;ESRP1,missense_variant,p.His483Tyr,ENST00000454170,NM_001122825.1,NM_001122827.1;ESRP1,missense_variant,p.His349Tyr,ENST00000519505,;ESRP1,missense_variant,p.His342Tyr,ENST00000517610,;ESRP1,downstream_gene_variant,,ENST00000517556,;	T	ENST00000433389	Transcript	missense_variant	1637/3770	1447/2046	483/681	H/Y	Cac/Tac	COSM4466667,COSM4466668	1		1	ESRP1	HGNC	HGNC:25966	protein_coding	YES	CCDS47897.1	ENSP00000405738	Q6NXG1		UPI0000210327	NM_017697.3	deleterious(0.03)		11/16		hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs1427069577	.												T	3	4	104	94671666	94671666	C	T	1	0	0	0	0	1	0	0	0	5120	840	29	3		3	ESRP1	8	94671666	Missense_Mutation	SNP	C	C3N-02582_TP	15	94671666	50466970	60	31741			2	37		2	2	16	C		5.196959e-05
ATP6V1C1	0	.	GRCh38	chr8	103040964	103040965	+	Frame_Shift_Ins	INS	-	-	A																															aagttcaatattcctgacttINSaaaggtgaagctgcactgtg																								novel		C3N-02582_TP	C3N-02582_NB	-	-																c.131dupA	p.Val45GlyfsTer13	p.V45Gfs*13	ENST00000395862	2/13	147	67	80	158	158	0	sindel-varindel-pindel	ATP6V1C1,frameshift_variant,p.Val45GlyfsTer13,ENST00000395862,NM_001695.4;ATP6V1C1,frameshift_variant,p.Val45GlyfsTer13,ENST00000518738,;ATP6V1C1,intron_variant,,ENST00000518857,;ATP6V1C1,intron_variant,,ENST00000521514,;	A	ENST00000395862	Transcript	frameshift_variant	287-288/5612	128-129/1149	43/382	L/LX	tta/ttAa		1		1	ATP6V1C1	HGNC	HGNC:856	protein_coding	YES	CCDS6296.1	ENSP00000379203	P21283	A0A024R9I0	UPI0000049C2A	NM_001695.4			2/13		hmmpanther:PTHR10137:SF5,hmmpanther:PTHR10137,Pfam_domain:PF03223,Gene3D:1u7lA02,Superfamily_domains:0049812																	HIGH	1	insertion	1	3		1										PASS		.	.												A	7	5	104	103040964	103040964	-	A	1	0	1	1	0	0	0	0	0	1333	1768	61	0		0	ATP6V1C1	8	103040964	Frame_Shift_Ins	INS	-	C3N-02582_TP	8369298	103040964	42097672	61	31742											
TMEM249	0	.	GRCh38	chr8	144354697	144354697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcgctccgggcaggtgagtCctaggaaccagagctggaag	9	5	17	10	2	0	2	0	1	0	1	2	4	2	4	3	5	2	3	3	5	3	1	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.71G>A	p.Gly24Glu	p.G24E	ENST00000565365	1/5	389	367	22	261	261	0	strelka-varscan-mutect	TMEM249,missense_variant,p.Gly24Glu,ENST00000565365,NM_001252402.2,NM_001280561.1;TMEM249,missense_variant,p.Gly24Glu,ENST00000562477,NM_001252404.2;SLC52A2,intron_variant,,ENST00000524541,;SLC52A2,upstream_gene_variant,,ENST00000532887,;SLC52A2,upstream_gene_variant,,ENST00000329994,NM_024531.4;SLC52A2,upstream_gene_variant,,ENST00000527078,;FBXL6,downstream_gene_variant,,ENST00000331890,NM_012162.3;SLC52A2,upstream_gene_variant,,ENST00000402965,NM_001253815.1;SLC52A2,upstream_gene_variant,,ENST00000530047,NM_001253816.1;FBXL6,downstream_gene_variant,,ENST00000455319,NM_024555.5;SLC52A2,upstream_gene_variant,,ENST00000534725,;SLC52A2,upstream_gene_variant,,ENST00000526752,;SLC52A2,upstream_gene_variant,,ENST00000526338,;SLC52A2,splice_region_variant,,ENST00000532815,;FBXL6,downstream_gene_variant,,ENST00000526524,;FBXL6,downstream_gene_variant,,ENST00000527000,;SLC52A2,upstream_gene_variant,,ENST00000526891,;FBXL6,downstream_gene_variant,,ENST00000530687,;FBXL6,downstream_gene_variant,,ENST00000524909,;GS1-393G12.13,3_prime_UTR_variant,,ENST00000531225,;FBXL6,downstream_gene_variant,,ENST00000530142,;FBXL6,downstream_gene_variant,,ENST00000524492,;TMEM249,upstream_gene_variant,,ENST00000561638,;SLC52A2,upstream_gene_variant,,ENST00000533662,;SLC52A2,upstream_gene_variant,,ENST00000526779,;FBXL6,downstream_gene_variant,,ENST00000529279,;	T	ENST00000565365	Transcript	missense_variant	218/975	71/708	24/235	G/E	gGa/gAa		1		-1	TMEM249	HGNC	HGNC:44155	protein_coding	YES	CCDS59117.1	ENSP00000454468	Q2WGJ8		UPI000019984E	NM_001252402.2,NM_001280561.1	deleterious(0.01)		1/5		hmmpanther:PTHR35442																	MODERATE		SNV	3			1										PASS		.	.												T	3	4	104	144354697	144354697	C	T	1	0	0	0	0	1	0	0	0	16608	855	30	3		3	TMEM249	8	144354697	Missense_Mutation	SNP	C	C3N-02582_TP	41313733	144354697	783939	62	31743											
FBXL6	0	.	GRCh38	chr8	144355564	144355564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggtgagcagctgctcCagacaccactggacttcctc	7	8	12	14	0	0	2	0	1	0	1	3	3	2	3	3	3	3	4	3	3	0	1	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.1587G>A	p.=	p.L529L	ENST00000331890	9/9	261	244	17	132	132	0	strelka-varscan-mutect	FBXL6,synonymous_variant,p.=,ENST00000331890,NM_012162.3;FBXL6,synonymous_variant,p.=,ENST00000455319,NM_024555.5;SLC52A2,intron_variant,,ENST00000524541,;SLC52A2,upstream_gene_variant,,ENST00000532887,;SLC52A2,upstream_gene_variant,,ENST00000329994,NM_024531.4;SLC52A2,upstream_gene_variant,,ENST00000527078,;SLC52A2,upstream_gene_variant,,ENST00000402965,NM_001253815.1;SLC52A2,upstream_gene_variant,,ENST00000530047,NM_001253816.1;TMEM249,upstream_gene_variant,,ENST00000565365,NM_001252402.2,NM_001280561.1;SLC52A2,upstream_gene_variant,,ENST00000534725,;TMEM249,upstream_gene_variant,,ENST00000562477,NM_001252404.2;SLC52A2,upstream_gene_variant,,ENST00000526752,;SLC52A2,upstream_gene_variant,,ENST00000526338,;FBXL6,non_coding_transcript_exon_variant,,ENST00000526524,;SLC52A2,intron_variant,,ENST00000532815,;FBXL6,downstream_gene_variant,,ENST00000527000,;SLC52A2,upstream_gene_variant,,ENST00000526891,;FBXL6,downstream_gene_variant,,ENST00000530687,;FBXL6,downstream_gene_variant,,ENST00000524909,;GS1-393G12.13,synonymous_variant,p.=,ENST00000531225,;FBXL6,non_coding_transcript_exon_variant,,ENST00000530142,;FBXL6,non_coding_transcript_exon_variant,,ENST00000524492,;TMEM249,upstream_gene_variant,,ENST00000561638,;SLC52A2,upstream_gene_variant,,ENST00000533662,;SLC52A2,upstream_gene_variant,,ENST00000526779,;FBXL6,downstream_gene_variant,,ENST00000529279,;	T	ENST00000331890	Transcript	synonymous_variant	1652/1785	1587/1620	529/539	L	ctG/ctA		1		-1	FBXL6	HGNC	HGNC:13603	protein_coding	YES	CCDS6422.1	ENSP00000330098	Q8N531		UPI0002064E15	NM_012162.3			9/9																			LOW	1	SNV	1			1										PASS		.	.												T	2	4	104	144355564	144355564	C	T	1	0	0	0	0	0	0	0	1	5586	581	21	3		3	FBXL6	8	144355564	Silent	SNP	C	C3N-02582_TP	867	144355564	783072	63	31744											
ADCK5	0	.	GRCh38	chr8	144391152	144391152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtggatgagttgttccttGaggacttccaggccctcccc	6	11	12	12	0	0	2	0	2	0	0	3	4	3	4	5	4	0	2	5	4	0	4			C3N-02582_TP	C3N-02582_NB	G	G																c.562G>A	p.Glu188Lys	p.E188K	ENST00000308860	6/15	430	395	35	230	230	0	strelka-varscan-mutect	ADCK5,missense_variant,p.Glu188Lys,ENST00000308860,NM_174922.4;CPSF1,downstream_gene_variant,,ENST00000616140,NM_013291.2;CPSF1,downstream_gene_variant,,ENST00000620219,;CPSF1,downstream_gene_variant,,ENST00000531727,;CPSF1,downstream_gene_variant,,ENST00000532935,;CPSF1,downstream_gene_variant,,ENST00000401314,;ADCK5,non_coding_transcript_exon_variant,,ENST00000526231,;ADCK5,downstream_gene_variant,,ENST00000534714,;ADCK5,3_prime_UTR_variant,,ENST00000529654,;ADCK5,3_prime_UTR_variant,,ENST00000533715,;CPSF1,downstream_gene_variant,,ENST00000531480,;CPSF1,downstream_gene_variant,,ENST00000526271,;ADCK5,downstream_gene_variant,,ENST00000526833,;CPSF1,downstream_gene_variant,,ENST00000527827,;CPSF1,downstream_gene_variant,,ENST00000532725,;ADCK5,downstream_gene_variant,,ENST00000532190,;CPSF1,downstream_gene_variant,,ENST00000529288,;CPSF1,downstream_gene_variant,,ENST00000531042,;	A	ENST00000308860	Transcript	missense_variant	606/1949	562/1743	188/580	E/K	Gag/Aag	COSM4831050	1		1	ADCK5	HGNC	HGNC:21738	protein_coding	YES	CCDS34965.2	ENSP00000310547	Q3MIX3		UPI00005B7249	NM_174922.4	deleterious(0.02)		6/15		hmmpanther:PTHR10566,hmmpanther:PTHR10566:SF59											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	104	144391152	144391152	G	A	1	0	0	0	0	1	0	0	0	335	1291	45	3		3	ADCK5	8	144391152	Missense_Mutation	SNP	G	C3N-02582_TP	35588	144391152	747484	64	31745											
RGS3	0	.	GRCh38	chr9	113595721	113595721	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatggcatccaaggccAagaagatctttgctgaatac	14	8	9	10	0	1	4	0	1	1	3	2	4	2	4	3	2	2	2	3	2	6	2	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.3367A>C	p.Lys1123Gln	p.K1123Q	ENST00000374140	25/26	113	102	11	191	191	0	strelka-varscan-mutect	RGS3,missense_variant,p.Lys1123Gln,ENST00000374140,NM_144488.5;RGS3,missense_variant,p.Lys1123Gln,ENST00000350696,NM_001282923.1;RGS3,missense_variant,p.Lys842Gln,ENST00000343817,NM_130795.3;RGS3,missense_variant,p.Lys444Gln,ENST00000374134,NM_001282922.1;RGS3,missense_variant,p.Lys444Gln,ENST00000462143,NM_001276260.1;RGS3,missense_variant,p.Lys516Gln,ENST00000394646,NM_001276261.1;RGS3,missense_variant,p.Lys236Gln,ENST00000462403,;RGS3,missense_variant,p.Lys236Gln,ENST00000613049,NM_144489.3;RGS3,missense_variant,p.Lys93Gln,ENST00000342620,NM_134427.2,NM_001276262.1;RGS3,missense_variant,p.Lys117Gln,ENST00000620489,;RGS3,downstream_gene_variant,,ENST00000467805,;RGS3,non_coding_transcript_exon_variant,,ENST00000496275,;RGS3,non_coding_transcript_exon_variant,,ENST00000478599,;RGS3,non_coding_transcript_exon_variant,,ENST00000487344,;RGS3,non_coding_transcript_exon_variant,,ENST00000490241,;RGS3,downstream_gene_variant,,ENST00000485822,;RGS3,downstream_gene_variant,,ENST00000488620,;RGS3,downstream_gene_variant,,ENST00000497435,;	C	ENST00000374140	Transcript	missense_variant	3576/4591	3367/3597	1123/1198	K/Q	Aag/Cag		1		1	RGS3	HGNC	HGNC:9999	protein_coding	YES	CCDS43869.1	ENSP00000363255	P49796		UPI00001C0F58	NM_144488.5	tolerated(0.06)		25/26		Gene3D:1.10.167.10,Pfam_domain:PF00615,Prints_domain:PR01301,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF4,Low_complexity_(Seg):seg,SMART_domains:SM00315,Superfamily_domains:SSF48097																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	104	113595721	113595721	A	C	1	0	0	0	0	1	0	0	0	13477	131	5	5		5	RGS3	9	113595721	Missense_Mutation	SNP	A	C3N-02582_TP		113595721	24798996	65	31746											
RALGPS1	0	.	GRCh38	chr9	127184002	127184002	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccagcatctgctgctcCgcgctccccgtggcctagga	4	8	10	19	3	1	0	0	0	1	0	4	1	4	1	6	2	3	4	6	2	1	1	rs758344268		C3N-02582_TP	C3N-02582_NB	C	C																c.1046C>G	p.Pro349Arg	p.P349R	ENST00000394022	12/12	249	201	48	411	411	0	strelka-varscan-mutect	RALGPS1,missense_variant,p.Pro349Arg,ENST00000394022,;RALGPS1,intron_variant,,ENST00000259351,NM_014636.2;RALGPS1,intron_variant,,ENST00000373434,NM_001190728.1;RALGPS1,intron_variant,,ENST00000424082,NM_001322320.1,NM_001190729.1;	G	ENST00000394022	Transcript	missense_variant	1338/1672	1046/1155	349/384	P/R	cCg/cGg	rs758344268	1		1	RALGPS1	HGNC	HGNC:16851	protein_coding			ENSP00000377590	Q5JS13		UPI000006E36A		deleterious_low_confidence(0.05)		12/12		hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF167,Low_complexity_(Seg):seg																	MODERATE		SNV	1			1										PASS		rs758344268	.												G	3	3	104	127184002	127184002	C	G	1	0	0	0	0	1	0	0	0	13176	652	23	4		4	RALGPS1	9	127184002	Missense_Mutation	SNP	C	C3N-02582_TP	13588281	127184002	11210715	66	31747											
SARDH	0	.	GRCh38	chr9	133708375	133708375	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcttggcgtaggactcaTggcttcgctctcggatccag	6	12	12	11	3	3	0	1	0	2	0	6	2	4	2	1	4	0	4	1	4	1	4	novel		C3N-02582_TP	C3N-02582_NB	T	T																c.1382A>T	p.His461Leu	p.H461L	ENST00000371872	11/21	100	87	13	149	149	0	strelka-varscan-mutect	SARDH,missense_variant,p.His461Leu,ENST00000371872,NM_007101.3;SARDH,missense_variant,p.His461Leu,ENST00000439388,NM_001134707.1;SARDH,missense_variant,p.His181Leu,ENST00000422262,;SARDH,missense_variant,p.His461Leu,ENST00000427237,;SARDH,upstream_gene_variant,,ENST00000371868,;	A	ENST00000371872	Transcript	missense_variant	1640/3344	1382/2757	461/918	H/L	cAt/cTt		1		-1	SARDH	HGNC	HGNC:10536	protein_coding	YES	CCDS6978.1	ENSP00000360938	Q9UL12		UPI000006F076	NM_007101.3	deleterious(0)		11/21		hmmpanther:PTHR13847:SF200,hmmpanther:PTHR13847,Pfam_domain:PF16350,Superfamily_domains:SSF51905																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	104	133708375	133708375	T	A	1	0	0	0	0	1	0	0	0	14102	1464	51	4		4	SARDH	9	133708375	Missense_Mutation	SNP	T	C3N-02582_TP	6524373	133708375	4686342	67	31748											
MLLT10	0	.	GRCh38	chr10	21726316	21726316	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaatagatcaaattcatcaAtggcagctcttatagctcag	14	11	7	9	0	5	1	4	0	1	1	5	1	5	1	0	1	2	4	0	1	6	4	rs137946053		C3N-02582_TP	C3N-02582_NB	A	A																c.1951A>G	p.Met651Val	p.M651V	ENST00000307729	15/23	164	151	13	214	214	0	strelka-varscan-mutect	MLLT10,missense_variant,p.Met667Val,ENST00000377072,NM_004641.3;MLLT10,missense_variant,p.Met651Val,ENST00000307729,;MLLT10,missense_variant,p.Met651Val,ENST00000631589,;MLLT10,missense_variant,p.Met651Val,ENST00000377059,NM_001195626.1;MLLT10,missense_variant,p.Met310Val,ENST00000438473,;	G	ENST00000307729	Transcript	missense_variant	2129/5032	1951/3207	651/1068	M/V	Atg/Gtg	rs137946053	1		1	MLLT10	HGNC	HGNC:16063	protein_coding	YES	CCDS55708.1	ENSP00000307411	P55197		UPI00001F8FF7		tolerated(0.19)		15/23		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF93																	MODERATE	1	SNV	1			1										PASS		rs137946053	.												G	3	3	104	21726316	21726316	A	G	1	0	0	0	0	1	0	0	0	9589	101	4	5		5	MLLT10	10	21726316	Missense_Mutation	SNP	A	C3N-02582_TP		21726316	112071106	68	31749											
OR10W1	0	.	GRCh38	chr11	58266985	58266985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggtaagaactctccctaCggcccctttcatctcactgt	7	12	6	16	1	3	1	2	0	2	1	5	1	3	1	4	2	2	1	4	2	3	3	rs140648233		C3N-02582_TP	C3N-02582_NB	C	C																c.874G>A	p.Val292Ile	p.V292I	ENST00000395079	1/1	30	24	6	56	56	0	strelka-varscan-mutect	OR10W1,missense_variant,p.Val292Ile,ENST00000395079,NM_207374.3;	T	ENST00000395079	Transcript	missense_variant	1276/1469	874/918	292/305	V/I	Gta/Ata	rs140648233,COSM1737484	1		-1	OR10W1	HGNC	HGNC:15139	protein_coding	YES	CCDS7968.1	ENSP00000378516	Q8NGF6		UPI000004B229	NM_207374.3	tolerated(0.17)		1/1		hmmpanther:PTHR26452:SF165,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321											0,1						MODERATE	1	SNV			0,1	1										PASS		rs140648233	.												T	3	4	104	58266985	58266985	C	T	1	0	0	0	0	1	0	0	0	10998	536	19	1		1	OR10W1	11	58266985	Missense_Mutation	SNP	C	C3N-02582_TP		58266985	76819637	69	31750											
FLRT1	0	.	GRCh38	chr11	64116341	64116341	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacggccaccgttgtgatgaCcacggccaccatggacctgc	8	6	11	16	3	0	2	0	2	0	0	0	3	0	3	6	3	1	1	6	3	0	1	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.74C>G	p.Thr25Ser	p.T25S	ENST00000246841	2/2	142	107	35	176	176	0	strelka-varscan-mutect	FLRT1,missense_variant,p.Thr25Ser,ENST00000246841,NM_013280.4;MACROD1,intron_variant,,ENST00000255681,NM_014067.3;RP11-21A7A.3,downstream_gene_variant,,ENST00000543817,;MACROD1,intron_variant,,ENST00000542359,;MACROD1,intron_variant,,ENST00000543422,;MACROD1,intron_variant,,ENST00000545464,;	G	ENST00000246841	Transcript	missense_variant	1117/3949	74/2025	25/674	T/S	aCc/aGc		1		1	FLRT1	HGNC	HGNC:3760	protein_coding	YES	CCDS8057.1	ENSP00000246841	Q9NZU1		UPI0000039F94	NM_013280.4	tolerated_low_confidence(0.65)		2/2		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF30,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1425516751	.												G	3	3	104	64116341	64116341	C	G	1	0	0	0	0	1	0	0	0	5794	507	18	4		4	FLRT1	11	64116341	Missense_Mutation	SNP	C	C3N-02582_TP	5849356	64116341	70970281	70	31751											
KDM5A	0	.	GRCh38	chr12	307499	307499	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttggagttctgcactgatGatcttttcagttttttctcg	5	21	8	7	1	4	2	1	2	3	0	5	3	4	3	0	1	1	3	0	1	0	8	novel		C3N-02582_TP	C3N-02582_NB	G	G																c.3885C>T	p.=	p.I1295I	ENST00000399788	23/28	337	300	37	222	222	0	strelka-varscan-mutect	KDM5A,synonymous_variant,p.=,ENST00000399788,NM_001042603.2;KDM5A,downstream_gene_variant,,ENST00000544760,;KDM5A,non_coding_transcript_exon_variant,,ENST00000540156,;KDM5A,downstream_gene_variant,,ENST00000535269,;	A	ENST00000399788	Transcript	synonymous_variant	4248/10763	3885/5073	1295/1690	I	atC/atT		1		-1	KDM5A	HGNC	HGNC:9886	protein_coding	YES	CCDS41736.1	ENSP00000382688	P29375		UPI0000DB2E73	NM_001042603.2			23/28		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF17																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	104	307499	307499	G	A	1	0	0	0	0	0	0	0	1	8051	1280	45	3		3	KDM5A	12	307499	Silent	SNP	G	C3N-02582_TP		307499	132967810	71	31752											
GLIPR1L2	0	.	GRCh38	chr12	75423039	75423039	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcataatggattggacaaGaaaaataagcgattgaacac	19	8	9	5	1	0	2	0	1	0	1	0	5	0	4	0	2	3	1	0	2	6	4	rs77365041		C3N-02582_TP	C3N-02582_NB	G	G																c.720G>C	p.Lys240Asn	p.K240N	ENST00000320460	4/4	115	108	7	160	158	2	varscan-mutect	GLIPR1L2,missense_variant,p.Lys240Asn,ENST00000320460,NM_152436.2;GLIPR1L2,intron_variant,,ENST00000550916,NM_001270396.1;GLIPR1L2,intron_variant,,ENST00000378692,;GLIPR1L2,downstream_gene_variant,,ENST00000547164,;	C	ENST00000320460	Transcript	missense_variant	728/1729	720/762	240/253	K/N	aaG/aaC	rs77365041	1		1	GLIPR1L2	HGNC	HGNC:28592	protein_coding		CCDS9010.1	ENSP00000317385	Q4G1C9		UPI0000071B6E	NM_152436.2	tolerated_low_confidence(0.37)		4/4																			MODERATE		SNV	1			1										PASS		rs77365041	.												C	3	2	104	75423039	75423039	G	C	1	0	0	0	0	1	0	0	0	6321	933	33	4		4	GLIPR1L2	12	75423039	Missense_Mutation	SNP	G	C3N-02582_TP	75115540	75423039	57852270	72	31753											
SDSL	0	.	GRCh38	chr12	113435429	113435429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgggggtctcctggccgggGtggtggctggcctgctggag	1	9	22	9	1	1	0	0	0	1	0	2	1	1	1	3	9	1	2	3	9	0	0	novel		C3N-02582_TP	C3N-02582_NB	G	G																c.544G>T	p.Val182Leu	p.V182L	ENST00000403593	6/8	131	121	10	147	147	0	strelka-mutect	SDSL,missense_variant,p.Val182Leu,ENST00000403593,NM_001304993.1;SDSL,missense_variant,p.Val182Leu,ENST00000345635,NM_138432.3;SDSL,missense_variant,p.Val78Leu,ENST00000546672,;SDSL,missense_variant,p.Val124Leu,ENST00000553248,;SDSL,upstream_gene_variant,,ENST00000551760,;	T	ENST00000403593	Transcript	missense_variant	806/1449	544/990	182/329	V/L	Gtg/Ttg		1		1	SDSL	HGNC	HGNC:30404	protein_coding	YES	CCDS9170.1	ENSP00000385790	Q96GA7	A0A024RBL2	UPI0000072263	NM_001304993.1	deleterious(0.02)		6/8		Low_complexity_(Seg):seg,hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF99,Gene3D:3.40.50.1100,Pfam_domain:PF00291,Superfamily_domains:SSF53686																	MODERATE	1	SNV	1			1										PASS		rs1483880517	.												T	3	4	104	113435429	113435429	G	T	1	0	0	0	0	1	0	0	0	14252	1261	44	2		2	SDSL	12	113435429	Missense_Mutation	SNP	G	C3N-02582_TP	38012390	113435429	19839880	73	31754											
HCAR2	0	.	GRCh38	chr12	122702576	122702576	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgacaaagacgatggcCaccaccatgatgaaggtgat	15	6	11	9	1	0	6	0	4	0	2	0	7	0	6	3	2	0	0	3	2	2	0	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.708G>A	p.=	p.V236V	ENST00000328880	1/1	380	292	88	456	456	0	strelka-varscan-mutect	HCAR2,synonymous_variant,p.=,ENST00000328880,NM_177551.3;RP11-324E6.6,intron_variant,,ENST00000543611,;	T	ENST00000328880	Transcript	synonymous_variant	768/2051	708/1092	236/363	V	gtG/gtA		1		-1	HCAR2	HGNC	HGNC:24827	protein_coding	YES	CCDS9235.1	ENSP00000375066	Q8TDS4		UPI000003BCD5	NM_177551.3			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF0,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW		SNV				1										PASS		.	.												T	2	4	104	122702576	122702576	C	T	1	0	0	0	0	0	0	0	1	6876	581	21	3		3	HCAR2	12	122702576	Silent	SNP	C	C3N-02582_TP	9267147	122702576	10572733	74	31755											
ZFYVE19	0	.	GRCh38	chr15	40807297	40807297	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagagcggatgccagcAgtggccgaggcgctaggaca	9	4	17	11	3	0	1	0	0	0	1	0	5	0	3	3	5	3	2	3	5	1	1	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.9A>C	p.=	p.A3A	ENST00000336455	1/12	96	88	8	158	157	1	strelka-varscan-mutect	ZFYVE19,synonymous_variant,p.=,ENST00000336455,NM_032850.4;ZFYVE19,synonymous_variant,p.=,ENST00000570108,;ZFYVE19,5_prime_UTR_variant,,ENST00000355341,NM_001077268.1;ZFYVE19,5_prime_UTR_variant,,ENST00000564258,NM_001258421.1;DNAJC17,intron_variant,,ENST00000220496,NM_018163.2;DNAJC17,intron_variant,,ENST00000627802,;ZFYVE19,upstream_gene_variant,,ENST00000299173,NM_001258420.1;ZFYVE19,upstream_gene_variant,,ENST00000566407,;ZFYVE19,upstream_gene_variant,,ENST00000561617,;ZFYVE19,upstream_gene_variant,,ENST00000566767,;ZFYVE19,upstream_gene_variant,,ENST00000563530,;DNAJC17,intron_variant,,ENST00000559238,;DNAJC17,intron_variant,,ENST00000560301,;DNAJC17,intron_variant,,ENST00000560645,;DNAJC17,intron_variant,,ENST00000561018,;DNAJC17,intron_variant,,ENST00000559310,;DNAJC17,intron_variant,,ENST00000560065,;ZFYVE19,upstream_gene_variant,,ENST00000560078,;ZFYVE19,upstream_gene_variant,,ENST00000561768,;ZFYVE19,upstream_gene_variant,,ENST00000569057,;ZFYVE19,upstream_gene_variant,,ENST00000568062,;ZFYVE19,upstream_gene_variant,,ENST00000567756,;ZFYVE19,upstream_gene_variant,,ENST00000570162,;	C	ENST00000336455	Transcript	synonymous_variant	64/1784	9/1386	3/461	A	gcA/gcC		1		1	ZFYVE19	HGNC	HGNC:20758	protein_coding		CCDS58353.1	ENSP00000337824	Q96K21		UPI0000D48D6C	NM_032850.4			1/12																			LOW		SNV	2			1										PASS		.	.												C	2	2	104	40807297	40807297	A	C	1	0	0	0	0	0	0	0	1	18243	175	7	5		5	ZFYVE19	15	40807297	Silent	SNP	A	C3N-02582_TP		40807297	61183892	75	31756											
FBN1	0	.	GRCh38	chr15	48456636	48456636	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaagtcatgatgccacttaCcttcacaaaccaacaacttg	15	10	4	12	0	2	1	2	1	0	0	2	1	2	1	3	0	5	0	3	0	6	4	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.5422+1G>T		p.X1808_splice	ENST00000316623		330	296	34	596	595	1	strelka-varscan-mutect	FBN1,splice_donor_variant,,ENST00000316623,NM_000138.4;FBN1,splice_donor_variant,,ENST00000559133,;FBN1,splice_donor_variant,,ENST00000537463,;	A	ENST00000316623	Transcript	splice_donor_variant	-/11756	5422/8616	1808/2871				1		-1	FBN1	HGNC	HGNC:3603	protein_coding	YES	CCDS32232.1	ENSP00000325527	P35555		UPI0000EE4EBC	NM_000138.4				44/65																		HIGH	1	SNV	1			1										PASS		rs1064793116	.												A	5	1	104	48456636	48456636	C	A	1	0	0	0	0	0	0	1	0	5565	521	18	2		2	FBN1	15	48456636	Splice_Site	SNP	C	C3N-02582_TP	7649339	48456636	53534553	76	31757											
ZNF280D	0	.	GRCh38	chr15	56701236	56701236	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggttaactctgttcaaaaTatctataaaagattatattt	15	16	6	4	0	3	1	1	0	2	1	3	1	3	1	0	2	1	2	0	2	9	8	novel		C3N-02582_TP	C3N-02582_NB	T	T																c.178A>G	p.Ile60Val	p.I60V	ENST00000267807	5/22	75	61	14	129	128	1	strelka-varscan-mutect	ZNF280D,missense_variant,p.Ile47Val,ENST00000559237,NM_001002843.2;ZNF280D,missense_variant,p.Ile47Val,ENST00000559000,;ZNF280D,missense_variant,p.Ile60Val,ENST00000267807,NM_001288588.1,NM_017661.3;ZNF280D,missense_variant,p.Ile60Val,ENST00000558320,NM_001288589.1,NM_001002844.2;ZNF280D,missense_variant,p.Ile60Val,ENST00000559352,;ZNF280D,missense_variant,p.Ile60Val,ENST00000560002,;ZNF280D,missense_variant,p.Ile60Val,ENST00000558002,;	C	ENST00000267807	Transcript	missense_variant,splice_region_variant	395/4328	178/2940	60/979	I/V	Att/Gtt		1		-1	ZNF280D	HGNC	HGNC:25953	protein_coding	YES	CCDS32245.1	ENSP00000267807	Q6N043		UPI00003FF962	NM_001288588.1,NM_017661.3	tolerated(0.08)		5/22		Pfam_domain:PF13836,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF276																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	104	56701236	56701236	T	C	1	0	0	0	0	1	0	0	0	18393	1420	49	5		5	ZNF280D	15	56701236	Missense_Mutation	SNP	T	C3N-02582_TP	8244600	56701236	45289953	77	31758											
BAIAP3	0	.	GRCh38	chr16	1347306	1347306	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctgccccaggccctggtCagttttttccacgcagaggg	5	10	11	15	1	1	1	1	0	0	1	3	1	3	1	5	3	1	2	5	3	0	3	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.2865C>T	p.=	p.V955V	ENST00000324385	29/34	199	189	10	195	195	0	strelka-varscan-mutect	BAIAP3,synonymous_variant,p.=,ENST00000628027,;BAIAP3,synonymous_variant,p.=,ENST00000324385,NM_003933.4;BAIAP3,synonymous_variant,p.=,ENST00000397488,NM_001286464.1;BAIAP3,synonymous_variant,p.=,ENST00000426824,NM_001199097.1;BAIAP3,synonymous_variant,p.=,ENST00000421665,NM_001199096.1;BAIAP3,synonymous_variant,p.=,ENST00000568887,NM_001199099.1;BAIAP3,synonymous_variant,p.=,ENST00000562208,NM_001199098.1;BAIAP3,synonymous_variant,p.=,ENST00000561793,;BAIAP3,intron_variant,,ENST00000566162,;GNPTG,upstream_gene_variant,,ENST00000204679,NM_032520.4;TSR3,downstream_gene_variant,,ENST00000007390,NM_001001410.2;GNPTG,upstream_gene_variant,,ENST00000529110,;GNPTG,upstream_gene_variant,,ENST00000527137,;BAIAP3,non_coding_transcript_exon_variant,,ENST00000564213,;BAIAP3,non_coding_transcript_exon_variant,,ENST00000566389,;BAIAP3,downstream_gene_variant,,ENST00000567825,;GNPTG,upstream_gene_variant,,ENST00000527168,;GNPTG,upstream_gene_variant,,ENST00000529957,;BAIAP3,downstream_gene_variant,,ENST00000568198,;TSR3,downstream_gene_variant,,ENST00000566296,;BAIAP3,downstream_gene_variant,,ENST00000561602,;GNPTG,upstream_gene_variant,,ENST00000526820,;GNPTG,upstream_gene_variant,,ENST00000527876,;BAIAP3,downstream_gene_variant,,ENST00000567203,;GNPTG,upstream_gene_variant,,ENST00000534197,;	T	ENST00000324385	Transcript	synonymous_variant	3023/4678	2865/3564	955/1187	V	gtC/gtT		1		1	BAIAP3	HGNC	HGNC:948	protein_coding	YES	CCDS10434.1	ENSP00000324510	O94812		UPI0000071E58	NM_003933.4			29/34		Pfam_domain:PF10540,PROSITE_profiles:PS51259,hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF65																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	104	1347306	1347306	C	T	1	0	0	0	0	0	0	0	1	1456	813	29	3		3	BAIAP3	16	1347306	Silent	SNP	C	C3N-02582_TP		1347306	88991039	78	31759											
SMG1	0	.	GRCh38	chr16	18836059	18836059	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgcagggccacggttgcaTagtgatgcagttgctccaga	9	9	13	10	1	0	2	0	1	0	1	1	2	1	2	2	2	4	6	2	2	1	3	rs372184477		C3N-02582_TP	C3N-02582_NB	T	T																c.7931A>G	p.Tyr2644Cys	p.Y2644C	ENST00000446231	48/63	365	313	52	439	439	0	strelka-varscan-mutect	SMG1,missense_variant,p.Tyr2644Cys,ENST00000446231,NM_015092.4;SMG1,missense_variant,p.Tyr2534Cys,ENST00000565324,;SMG1,downstream_gene_variant,,ENST00000563448,;	C	ENST00000446231	Transcript	missense_variant	8344/16115	7931/10986	2644/3661	Y/C	tAt/tGt	rs372184477	1		-1	SMG1	HGNC	HGNC:30045	protein_coding	YES	CCDS45430.1	ENSP00000402515	Q96Q15		UPI00004F8E22	NM_015092.4	deleterious(0)		48/63																			MODERATE	1	SNV	1			1										PASS		rs372184477	.												C	3	2	104	18836059	18836059	T	C	1	0	0	0	0	1	0	0	0	15089	1406	49	5		5	SMG1	16	18836059	Missense_Mutation	SNP	T	C3N-02582_TP	17488753	18836059	71502286	79	31760											
DNAH3	0	.	GRCh38	chr16	20935432	20935432	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtcaaaaaagactgtgtGaagtagaatccagagatcca	17	7	9	8	0	1	4	1	1	0	3	3	5	3	4	3	0	0	1	3	0	6	1	novel		C3N-02582_TP	C3N-02582_NB	G	G																c.11913C>T	p.=	p.F3971F	ENST00000261383	61/62	325	281	44	360	360	0	strelka-varscan-mutect	DNAH3,synonymous_variant,p.=,ENST00000261383,NM_017539.2;	A	ENST00000261383	Transcript	synonymous_variant	11913/12394	11913/12351	3971/4116	F	ttC/ttT		1		-1	DNAH3	HGNC	HGNC:2949	protein_coding	YES	CCDS10594.1	ENSP00000261383	Q8TD57		UPI00001100F2	NM_017539.2			61/62		hmmpanther:PTHR10676:SF242,hmmpanther:PTHR10676,Pfam_domain:PF03028																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	104	20935432	20935432	G	A	1	0	0	0	0	0	0	0	1	4418	1281	45	3		3	DNAH3	16	20935432	Silent	SNP	G	C3N-02582_TP	2099373	20935432	69402913	80	31761											
PHKB	0	.	GRCh38	chr16	47580322	47580322	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtttagcaaaagcagctctAgaagcaattaatggattcaa	16	10	9	6	0	2	1	1	0	1	1	2	2	2	2	0	2	4	5	0	2	8	5	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.738A>G	p.=	p.L246L	ENST00000323584	8/31	267	226	41	428	427	1	strelka-varscan-mutect	PHKB,synonymous_variant,p.=,ENST00000299167,;PHKB,synonymous_variant,p.=,ENST00000323584,NM_000293.2;PHKB,synonymous_variant,p.=,ENST00000566044,NM_001031835.2;PHKB,non_coding_transcript_exon_variant,,ENST00000567402,;PHKB,3_prime_UTR_variant,,ENST00000570047,;	G	ENST00000323584	Transcript	synonymous_variant	762/4283	738/3282	246/1093	L	ctA/ctG		1		1	PHKB	HGNC	HGNC:8927	protein_coding	YES	CCDS10729.1	ENSP00000313504	Q93100		UPI0000141140	NM_000293.2			8/31		Pfam_domain:PF00723,hmmpanther:PTHR10749,Superfamily_domains:SSF48208																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	104	47580322	47580322	A	G	1	0	0	0	0	0	0	0	1	11933	407	15	5		5	PHKB	16	47580322	Silent	SNP	A	C3N-02582_TP	26644890	47580322	42758023	81	31762											
LCAT	0	.	GRCh38	chr16	67943098	67943098	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccccaaggggtaggaacAtgttgagatccagccagatg	12	7	12	10	0	0	2	0	1	0	2	1	4	1	3	4	3	3	2	4	3	4	3	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.269T>G	p.Met90Arg	p.M90R	ENST00000264005	2/6	232	159	73	291	290	1	strelka-varscan-mutect	LCAT,missense_variant,p.Met90Arg,ENST00000264005,NM_000229.1;LCAT,missense_variant,p.Met18Arg,ENST00000570980,;SLC12A4,downstream_gene_variant,,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,downstream_gene_variant,,ENST00000422611,NM_001145962.1;SLC12A4,downstream_gene_variant,,ENST00000576616,;SLC12A4,downstream_gene_variant,,ENST00000541864,NM_001145964.1;SLC12A4,downstream_gene_variant,,ENST00000572037,;SLC12A4,downstream_gene_variant,,ENST00000537830,NM_001145963.1;LCAT,upstream_gene_variant,,ENST00000576450,;LCAT,upstream_gene_variant,,ENST00000570369,;LCAT,upstream_gene_variant,,ENST00000570396,;LCAT,missense_variant,p.His82Gln,ENST00000575467,;LCAT,non_coding_transcript_exon_variant,,ENST00000575277,;SLC12A4,downstream_gene_variant,,ENST00000570802,;SLC12A4,downstream_gene_variant,,ENST00000573023,;LCAT,upstream_gene_variant,,ENST00000573538,;SLC12A4,downstream_gene_variant,,ENST00000575857,;LCAT,upstream_gene_variant,,ENST00000573846,;SLC12A4,downstream_gene_variant,,ENST00000576513,;SLC12A4,downstream_gene_variant,,ENST00000570616,;	C	ENST00000264005	Transcript	missense_variant	299/1507	269/1323	90/440	M/R	aTg/aGg		1		-1	LCAT	HGNC	HGNC:6522	protein_coding	YES	CCDS10854.1	ENSP00000264005	P04180	A0A140VK24	UPI0000000DE7	NM_000229.1	deleterious(0.01)		2/6		Pfam_domain:PF02450,hmmpanther:PTHR11440,hmmpanther:PTHR11440:SF18																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	104	67943098	67943098	A	C	1	0	0	0	0	1	0	0	0	8563	217	8	5		5	LCAT	16	67943098	Missense_Mutation	SNP	A	C3N-02582_TP	20362776	67943098	22395247	82	31763											
TP53	0	.	GRCh38	chr17	7674256	7674256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaggaactgttacacatgTagttgtagtggatggtggta	10	13	14	4	0	0	0	0	0	0	0	0	2	0	2	0	4	3	6	0	4	5	5	rs730882026		C3N-02582_TP	C3N-02582_NB	T	T																c.707A>G	p.Tyr236Cys	p.Y236C	ENST00000269305	7/11	254	241	13	449	449	0	strelka-varscan-mutect	TP53,missense_variant,p.Tyr236Cys,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Tyr236Cys,ENST00000420246,;TP53,missense_variant,p.Tyr197Cys,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Tyr197Cys,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Tyr236Cys,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Tyr197Cys,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Tyr236Cys,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Tyr197Cys,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Tyr236Cys,ENST00000445888,;TP53,missense_variant,p.Tyr197Cys,ENST00000619485,;TP53,missense_variant,p.Tyr104Cys,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Tyr77Cys,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Tyr104Cys,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Tyr77Cys,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Tyr104Cys,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Tyr77Cys,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Tyr236Cys,ENST00000359597,;TP53,missense_variant,p.Tyr225Cys,ENST00000615910,;TP53,missense_variant,p.Tyr236Cys,ENST00000413465,;TP53,missense_variant,p.Tyr104Cys,ENST00000509690,;TP53,missense_variant,p.Tyr143Cys,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,non_coding_transcript_exon_variant,,ENST00000574684,;TP53,missense_variant,p.Tyr197Cys,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	C	ENST00000269305	Transcript	missense_variant	897/2579	707/1182	236/393	Y/C	tAc/tGc	rs730882026,CM004907,TP53_g.13344A>C,TP53_g.13344A>G,TP53_g.13344A>T,COSM10731,COSM116672,COSM116673,COSM116674,COSM1172470,COSM1172471,COSM1172472,COSM1646851,COSM3773303,COSM3958809,COSM3958810,COSM3958811,COSM3958812,COSM3958813,COSM3958814,COSM44693,COSM4766269,COSM4766270	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										uncertain_significance	0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1						MODERATE	1	SNV	1		1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs730882026	.												C	3	2	104	7674256	7674256	T	C	1	0	0	0	0	1	0	0	0	16859	1638	57	5		5	TP53	17	7674256	Missense_Mutation	SNP	T	C3N-02582_TP		7674256	75583185	83	31764											
DHRS7B	0	.	GRCh38	chr17	21172198	21172198	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagggctgggcaaaggTgggtcctggaggcagtgctg	7	7	18	9	0	1	0	1	0	0	0	2	1	2	1	2	6	1	4	2	6	1	0	novel		C3N-02582_TP	C3N-02582_NB	T	T																c.199+2T>A		p.X67_splice	ENST00000395511		139	131	8	136	136	0	strelka-varscan-mutect	DHRS7B,splice_donor_variant,,ENST00000395511,NM_015510.4;DHRS7B,splice_donor_variant,,ENST00000579303,;DHRS7B,splice_donor_variant,,ENST00000582161,;DHRS7B,splice_donor_variant,,ENST00000346603,;DHRS7B,splice_donor_variant,,ENST00000578426,;DHRS7B,non_coding_transcript_exon_variant,,ENST00000577350,;DHRS7B,non_coding_transcript_exon_variant,,ENST00000579099,;	A	ENST00000395511	Transcript	splice_donor_variant	-/2175	199/978	67/325				1		1	DHRS7B	HGNC	HGNC:24547	protein_coding	YES	CCDS11215.1	ENSP00000378887	Q6IAN0		UPI00000739CB	NM_015510.4				2/6																		HIGH	1	SNV	1			1										PASS		rs1272828699	.												A	5	1	104	21172198	21172198	T	A	1	0	0	0	0	0	0	1	0	4300	1710	59	4		4	DHRS7B	17	21172198	Splice_Site	SNP	T	C3N-02582_TP	13497942	21172198	62085243	84	31765											
NF1	0	.	GRCh38	chr17	31232729	31232729	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attatttatgaaccttttgaAtgactgcagtgaagttgaag	13	15	9	4	0	0	5	0	5	0	0	0	5	0	5	1	0	2	2	1	0	6	6	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.3344A>G	p.Asn1115Ser	p.N1115S	ENST00000358273	26/58	348	326	22	433	433	0	strelka-varscan-mutect	NF1,missense_variant,p.Asn1115Ser,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Asn1115Ser,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Asn781Ser,ENST00000456735,;NF1,missense_variant,p.Asn1149Ser,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000466819,;NF1,upstream_gene_variant,,ENST00000479614,;	G	ENST00000358273	Transcript	missense_variant	3727/12425	3344/8520	1115/2839	N/S	aAt/aGt		1		1	NF1	HGNC	HGNC:7765	protein_coding	YES	CCDS42292.1	ENSP00000351015	P21359		UPI000012FFAE	NM_001042492.2	deleterious(0.01)		26/58		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF90																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	104	31232729	31232729	A	G	1	0	0	0	0	1	0	0	0	10393	101	4	5		5	NF1	17	31232729	Missense_Mutation	SNP	A	C3N-02582_TP	10060531	31232729	52024712	85	31766											
EVI2A	0	.	GRCh38	chr17	31318998	31318998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taggtaatgtcctgtgtgttCcatgtccgtgggcatgcttg	5	15	13	8	1	0	0	0	0	0	0	3	0	3	0	3	2	1	4	3	2	2	4	rs759341310		C3N-02582_TP	C3N-02582_NB	C	C																c.85G>A	p.Glu29Lys	p.E29K	ENST00000247270	3/3	99	93	6	113	113	0	strelka-varscan-mutect	EVI2A,missense_variant,p.Glu29Lys,ENST00000247270,NM_001003927.2;EVI2A,missense_variant,p.Glu6Lys,ENST00000462804,NM_014210.3;EVI2A,missense_variant,p.Glu6Lys,ENST00000461237,;NF1,intron_variant,,ENST00000358273,NM_001042492.2;NF1,intron_variant,,ENST00000356175,NM_000267.3;NF1,intron_variant,,ENST00000456735,;EVI2B,upstream_gene_variant,,ENST00000330927,NM_006495.3;EVI2B,upstream_gene_variant,,ENST00000577894,;CTD-2370N5.3,upstream_gene_variant,,ENST00000578584,;CTD-2370N5.3,upstream_gene_variant,,ENST00000584948,;NF1,intron_variant,,ENST00000581113,;NF1,intron_variant,,ENST00000579081,;NF1,intron_variant,,ENST00000493220,;CTD-2370N5.3,upstream_gene_variant,,ENST00000581884,;CTD-2370N5.3,upstream_gene_variant,,ENST00000578021,;	T	ENST00000247270	Transcript	missense_variant	422/1860	85/780	29/259	E/K	Gaa/Aaa	rs759341310,COSM4065344	1		-1	EVI2A	HGNC	HGNC:3499	protein_coding	YES	CCDS32608.1	ENSP00000247270	P22794		UPI000042B0AE	NM_001003927.2	tolerated(0.1)		3/3		PD037847,Pfam_domain:PF05399,PIRSF_domain:PIRSF019625,hmmpanther:PTHR15568											0,1						MODERATE		SNV	2		0,1	1										PASS		rs759341310	.												T	3	4	104	31318998	31318998	C	T	1	0	0	0	0	1	0	0	0	5154	864	30	3		3	EVI2A	17	31318998	Missense_Mutation	SNP	C	C3N-02582_TP	86269	31318998	51938443	86	31767											
LRRC37B	0	.	GRCh38	chr17	32045767	32045785	+	Frame_Shift_Del	DEL	ACAGTCAAGCTGCATTGCA	ACAGTCAAGCTGCATTGCA	-																															gcattgaggctgtctgcaagAcagtcaagctgcattgcaac																								novel		C3N-02582_TP	C3N-02582_NB	ACAGTCAAGCTGCATTGCA	ACAGTCAAGCTGCATTGCA																c.2194_2212delGTCAAGCTGCATTGCAACA	p.Val732LeufsTer4	p.V732Lfs*4	ENST00000341671	8/12	254	237	17	370	370	0	sindel-pindel	LRRC37B,frameshift_variant,p.Val759LeufsTer4,ENST00000327564,;LRRC37B,frameshift_variant,p.Val650LeufsTer4,ENST00000543378,NM_001321350.1;LRRC37B,frameshift_variant,p.Val732LeufsTer4,ENST00000341671,;LRRC37B,frameshift_variant,p.Val732LeufsTer4,ENST00000394713,NM_052888.2;LRRC37B,frameshift_variant,p.Val693LeufsTer4,ENST00000584368,;LRRC37B,upstream_gene_variant,,ENST00000582117,;SH3GL1P1,downstream_gene_variant,,ENST00000579186,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000583758,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000581086,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000582815,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000578118,;LRRC37B,intron_variant,,ENST00000578674,;LRRC37B,upstream_gene_variant,,ENST00000579094,;LRRC37B,upstream_gene_variant,,ENST00000579766,;SH3GL1P1,downstream_gene_variant,,ENST00000583601,;	-	ENST00000341671	Transcript	frameshift_variant	2196-2214/3025	2191-2209/2844	731-737/947	TVKLHCN/X	ACAGTCAAGCTGCATTGCAac/ac		1		1	LRRC37B	HGNC	HGNC:29070	protein_coding	YES	CCDS32609.1	ENSP00000340519	Q96QE4		UPI000044D37B				8/12		hmmpanther:PTHR23045																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	104	32045767	32045767	ACAGTCAAGCTGCATTGCA	-	1	0	1	0	1	0	0	0	0	8888	275	10	0		0	LRRC37B	17	32045767	Frame_Shift_Del	DEL	ACAGTCAAGCTGCATTGCA	C3N-02582_TP	726769	32045767	51211674	87	31768											
ACLY	0	.	GRCh38	chr17	41869067	41869067	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaggacccacagtttctaAgcatgtctacaaatgcgact	14	10	7	10	1	2	0	0	0	2	0	2	2	2	1	1	1	3	2	1	1	5	4	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.3110T>G	p.Leu1037Arg	p.L1037R	ENST00000352035	27/29	229	209	20	268	267	1	strelka-varscan-mutect	ACLY,missense_variant,p.Leu1037Arg,ENST00000352035,NM_001303274.1,NM_001096.2;ACLY,missense_variant,p.Leu1027Arg,ENST00000353196,NM_001303275.1,NM_198830.1;ACLY,missense_variant,p.Leu1037Arg,ENST00000590151,;ACLY,missense_variant,p.Leu1027Arg,ENST00000393896,;ACLY,missense_variant,p.Leu766Arg,ENST00000537919,;KLHL11,upstream_gene_variant,,ENST00000319121,NM_018143.2;RP11-229E13.4,downstream_gene_variant,,ENST00000619176,;ACLY,non_coding_transcript_exon_variant,,ENST00000588779,;	C	ENST00000352035	Transcript	missense_variant	3241/4339	3110/3306	1037/1101	L/R	cTt/cGt		1		-1	ACLY	HGNC	HGNC:115	protein_coding	YES	CCDS11412.1	ENSP00000253792	P53396	A0A024R1T9	UPI000013CDF3	NM_001303274.1,NM_001096.2	deleterious(0)		27/29		Pfam_domain:PF00285,PIRSF_domain:PIRSF036511,hmmpanther:PTHR23118,Superfamily_domains:SSF48256																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	104	41869067	41869067	A	C	1	0	0	0	0	1	0	0	0	185	72	3	5		5	ACLY	17	41869067	Missense_Mutation	SNP	A	C3N-02582_TP	9823300	41869067	41388374	88	31769											
ATP6V0A1	0	.	GRCh38	chr17	42501285	42501285	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attggtccttcgccgtcagtAtttgaggagaaagcatttgg	9	13	12	7	2	1	2	1	1	0	1	3	3	2	2	2	3	1	2	2	3	2	5	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.2006A>G	p.Tyr669Cys	p.Y669C	ENST00000264649	17/21	127	112	15	134	134	0	strelka-varscan-mutect	ATP6V0A1,missense_variant,p.Tyr662Cys,ENST00000343619,NM_001130021.1;ATP6V0A1,missense_variant,p.Tyr669Cys,ENST00000264649,NM_001130020.1;ATP6V0A1,missense_variant,p.Tyr308Cys,ENST00000544137,;ATP6V0A1,missense_variant,p.Tyr662Cys,ENST00000393829,NM_005177.3;ATP6V0A1,missense_variant,p.Tyr619Cys,ENST00000537728,;ATP6V0A1,missense_variant,p.Tyr619Cys,ENST00000585525,;ATP6V0A1,missense_variant,p.Tyr67Cys,ENST00000586201,;ATP6V0A1,missense_variant,p.Tyr15Cys,ENST00000588138,;RP11-194N12.2,downstream_gene_variant,,ENST00000591343,;ATP6V0A1,missense_variant,p.Tyr78Cys,ENST00000587510,;	G	ENST00000264649	Transcript	missense_variant	2137/4110	2006/2517	669/838	Y/C	tAt/tGt		1		1	ATP6V0A1	HGNC	HGNC:865	protein_coding	YES	CCDS45683.1	ENSP00000264649	Q93050		UPI0000E59F9E	NM_001130020.1	deleterious(0.04)		17/21		hmmpanther:PTHR11629:SF68,hmmpanther:PTHR11629,PIRSF_domain:PIRSF001293,Pfam_domain:PF01496																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	104	42501285	42501285	A	G	1	0	0	0	0	1	0	0	0	1321	449	16	5		5	ATP6V0A1	17	42501285	Missense_Mutation	SNP	A	C3N-02582_TP	632218	42501285	40756156	89	31770											
MRC2	0	.	GRCh38	chr17	62667403	62667403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccacagaccagccggacaaCcccagtgaggagaactgtgg	12	3	12	14	1	0	3	0	1	0	2	0	5	0	4	5	3	3	0	5	3	2	0	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.987C>A	p.Asn329Lys	p.N329K	ENST00000303375	6/30	85	72	13	97	97	0	strelka-varscan-mutect	MRC2,missense_variant,p.Asn329Lys,ENST00000303375,NM_006039.4;MRC2,non_coding_transcript_exon_variant,,ENST00000584265,;	A	ENST00000303375	Transcript	missense_variant	1389/5988	987/4440	329/1479	N/K	aaC/aaA		1		1	MRC2	HGNC	HGNC:16875	protein_coding	YES	CCDS11634.1	ENSP00000307513	Q9UBG0		UPI000013E895	NM_006039.4	deleterious(0.05)		6/30		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF69,SMART_domains:SM00034,Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1										PASS		rs1481220158	.												A	3	1	104	62667403	62667403	C	A	1	0	0	0	0	1	0	0	0	9723	506	18	2		2	MRC2	17	62667403	Missense_Mutation	SNP	C	C3N-02582_TP	20166118	62667403	20590038	90	31771											
TMC6	0	.	GRCh38	chr17	78120696	78120696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtccagcaacatgaggaCgaagtccatcaccaggaacc	13	5	10	13	2	1	1	1	1	0	0	3	4	3	3	4	2	3	1	4	2	3	0	rs199724291		C3N-02582_TP	C3N-02582_NB	C	C																c.1672G>A	p.Val558Ile	p.V558I	ENST00000590602	13/20	354	304	50	566	566	0	strelka-varscan-mutect	TMC6,missense_variant,p.Val558Ile,ENST00000590602,NM_001127198.1;TMC6,missense_variant,p.Val558Ile,ENST00000392467,;TMC6,missense_variant,p.Val558Ile,ENST00000322914,NM_007267.6;TMC6,3_prime_UTR_variant,,ENST00000589553,;TMC6,intron_variant,,ENST00000306591,;TMC6,intron_variant,,ENST00000591436,;TMC6,downstream_gene_variant,,ENST00000589271,;TMC6,downstream_gene_variant,,ENST00000592063,;TMC6,non_coding_transcript_exon_variant,,ENST00000590934,;TMC6,intron_variant,,ENST00000592076,;TMC6,non_coding_transcript_exon_variant,,ENST00000593044,;TMC6,non_coding_transcript_exon_variant,,ENST00000588087,;TMC6,non_coding_transcript_exon_variant,,ENST00000591756,;TMC6,downstream_gene_variant,,ENST00000586271,;TMC6,downstream_gene_variant,,ENST00000591594,;TMC6,upstream_gene_variant,,ENST00000589933,;TMC6,downstream_gene_variant,,ENST00000585849,;	T	ENST00000590602	Transcript	missense_variant	1832/5268	1672/2418	558/805	V/I	Gtc/Atc	rs199724291,COSM3970396	1		-1	TMC6	HGNC	HGNC:18021	protein_coding	YES	CCDS32748.1	ENSP00000465261	Q7Z403	A0A024R8V2	UPI000013D819	NM_001127198.1	tolerated(1)		13/20		Transmembrane_helices:TMhelix,hmmpanther:PTHR23302:SF4,hmmpanther:PTHR23302,Pfam_domain:PF07810											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs199724291	.												T	3	4	104	78120696	78120696	C	T	1	0	0	0	0	1	0	0	0	16435	536	19	1		1	TMC6	17	78120696	Missense_Mutation	SNP	C	C3N-02582_TP	15453293	78120696	5136745	91	31772											
LAMA1	0	.	GRCh38	chr18	7016561	7016561	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttttccctgccacaccTgggacacagtgacactggcc	8	8	8	17	0	0	1	0	1	0	0	1	2	1	2	5	2	1	0	5	2	0	2	novel		C3N-02582_TP	C3N-02582_NB	T	T																c.2919A>T	p.=	p.P973P	ENST00000389658	21/63	295	280	15	451	451	0	strelka-varscan-mutect	LAMA1,synonymous_variant,p.=,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;	A	ENST00000389658	Transcript	synonymous_variant	3013/9657	2919/9228	973/3075	P	ccA/ccT		1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3			21/63		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF299,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196																	LOW	1	SNV	2			1										PASS		.	.												A	2	1	104	7016561	7016561	T	A	1	0	0	0	0	0	0	0	1	8509	1567	55	4		4	LAMA1	18	7016561	Silent	SNP	T	C3N-02582_TP		7016561	73356724	92	31773											
ZNF407	0	.	GRCh38	chr18	74633353	74633353	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaatgtattgaaagggtAtgtataggtgcaaatgataa	17	11	12	1	0	0	3	0	2	0	1	0	4	0	3	0	2	1	4	0	2	9	6	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.2334A>T	p.=	p.V778V	ENST00000299687	1/8	87	82	5	200	200	0	strelka-varscan-mutect	ZNF407,synonymous_variant,p.=,ENST00000299687,NM_017757.2;ZNF407,synonymous_variant,p.=,ENST00000577538,NM_001146189.1;ZNF407,synonymous_variant,p.=,ENST00000582337,;ZNF407,synonymous_variant,p.=,ENST00000309902,NM_001146190.1;	T	ENST00000299687	Transcript	synonymous_variant	2334/7948	2334/6747	778/2248	V	gtA/gtT		1		1	ZNF407	HGNC	HGNC:19904	protein_coding	YES	CCDS45885.1	ENSP00000299687	Q9C0G0		UPI0000F58ED1	NM_017757.2			1/8																			LOW	1	SNV	1			1										PASS		rs901490398	.												T	2	4	104	74633353	74633353	A	T	1	0	0	0	0	0	0	0	1	18459	436	16	4		4	ZNF407	18	74633353	Silent	SNP	A	C3N-02582_TP	67616792	74633353	5739932	93	31774											
PQLC1	0	.	GRCh38	chr18	79904180	79904180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccacatgagcaccatcttGatgctgtggagacacaagca	12	8	10	11	0	1	3	0	2	1	1	2	4	2	3	2	1	3	3	2	1	1	1	novel		C3N-02582_TP	C3N-02582_NB	G	G																c.612C>G	p.Ile204Met	p.I204M	ENST00000397778	6/6	169	160	9	299	298	1	strelka-varscan-mutect	PQLC1,stop_gained,p.Ser114Ter,ENST00000590381,NM_001146343.1;PQLC1,missense_variant,p.Ile204Met,ENST00000397778,NM_025078.4;PQLC1,missense_variant,p.Ile186Met,ENST00000357575,NM_001146345.1;KCNG2,downstream_gene_variant,,ENST00000316249,NM_012283.1;RP11-248M19.1,upstream_gene_variant,,ENST00000618070,;PQLC1,non_coding_transcript_exon_variant,,ENST00000590895,;PQLC1,non_coding_transcript_exon_variant,,ENST00000469369,;PQLC1,non_coding_transcript_exon_variant,,ENST00000589000,;KCNG2,downstream_gene_variant,,ENST00000590307,;PQLC1,3_prime_UTR_variant,,ENST00000351365,;PQLC1,3_prime_UTR_variant,,ENST00000474967,;PQLC1,non_coding_transcript_exon_variant,,ENST00000466449,;	C	ENST00000397778	Transcript	missense_variant	795/2555	612/816	204/271	I/M	atC/atG		1		-1	PQLC1	HGNC	HGNC:26188	protein_coding	YES	CCDS12020.1	ENSP00000380880	Q8N2U9		UPI0000073855	NM_025078.4	deleterious(0.01)		6/6		Pfam_domain:PF04193,hmmpanther:PTHR14856,hmmpanther:PTHR14856:SF10,SMART_domains:SM00679																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	104	79904180	79904180	G	C	1	0	0	0	0	1	0	0	0	12544	1304	45	4		4	PQLC1	18	79904180	Missense_Mutation	SNP	G	C3N-02582_TP	5270827	79904180	469105	94	31775											
PLPPR3	0	.	GRCh38	chr19	814600	814600	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgagatgaccgagttgAagtacatctggggcatgggg	9	9	16	7	2	1	3	0	2	1	1	2	5	2	3	2	4	1	3	2	4	2	2	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.749T>C	p.Phe250Ser	p.F250S	ENST00000359894	6/7	161	66	95	234	234	0	strelka-varscan-mutect	PLPPR3,missense_variant,p.Phe250Ser,ENST00000359894,NM_024888.2;PLPPR3,missense_variant,p.Phe222Ser,ENST00000520876,NM_001270366.1;PLPPR3,intron_variant,,ENST00000517665,;PTBP1,downstream_gene_variant,,ENST00000635647,;PTBP1,downstream_gene_variant,,ENST00000356948,NM_002819.4;PTBP1,downstream_gene_variant,,ENST00000394601,NM_031990.3;PTBP1,downstream_gene_variant,,ENST00000349038,NM_031991.3;PTBP1,downstream_gene_variant,,ENST00000350092,;PTBP1,downstream_gene_variant,,ENST00000627714,;PLPPR3,downstream_gene_variant,,ENST00000519502,;MIR3187,downstream_gene_variant,,ENST00000583431,;PTBP1,downstream_gene_variant,,ENST00000586944,;PTBP1,downstream_gene_variant,,ENST00000585856,;PTBP1,downstream_gene_variant,,ENST00000621737,;PTBP1,downstream_gene_variant,,ENST00000585932,;	G	ENST00000359894	Transcript	missense_variant	813/2387	749/2241	250/746	F/S	tTc/tCc		1		-1	PLPPR3	HGNC	HGNC:23497	protein_coding	YES	CCDS12043.1	ENSP00000352962	Q6T4P5		UPI00000730B6	NM_024888.2	deleterious(0.03)		6/7		Pfam_domain:PF01569,SMART_domains:SM00014																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	104	814600	814600	A	G	1	0	0	0	0	1	0	0	0	12211	246	9	5		5	PLPPR3	19	814600	Missense_Mutation	SNP	A	C3N-02582_TP		814600	57803016	95	31776											
EEF2	0	.	GRCh38	chr19	3981423	3981424	+	Frame_Shift_Del	DEL	TT	TT	-																															atcagttttgctgtctcctcTttcttgaaattcatgatcgc																								novel		C3N-02582_TP	C3N-02582_NB	TT	TT																c.926_927delAA	p.Lys309ArgfsTer77	p.K309Rfs*77	ENST00000309311	7/15	133	105	28	303	303	0	sindel-varindel-pindel	EEF2,frameshift_variant,p.Lys309ArgfsTer77,ENST00000309311,NM_001961.3;EEF2,upstream_gene_variant,,ENST00000600794,;SNORD37,downstream_gene_variant,,ENST00000384048,;EEF2,downstream_gene_variant,,ENST00000600720,;EEF2,non_coding_transcript_exon_variant,,ENST00000598182,;EEF2,non_coding_transcript_exon_variant,,ENST00000598436,;EEF2,downstream_gene_variant,,ENST00000594885,;EEF2,upstream_gene_variant,,ENST00000596417,;	-	ENST00000309311	Transcript	frameshift_variant	1015-1016/3164	926-927/2577	309/858	K/X	aAA/a		1		-1	EEF2	HGNC	HGNC:3214	protein_coding	YES	CCDS12117.1	ENSP00000307940	P13639		UPI00001649F3	NM_001961.3			7/15		Gene3D:1n0uA03,Pfam_domain:PF00009,PROSITE_profiles:PS51722,Superfamily_domains:SSF52540																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	104	3981423	3981423	TT	-	1	0	1	0	1	0	0	0	0	4759	1606	56	0		0	EEF2	19	3981423	Frame_Shift_Del	DEL	TT	C3N-02582_TP	3166823	3981423	54636193	96	31777											
MUC16	0	.	GRCh38	chr19	8848946	8848946	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccagtcattgcagatcctCcaggtctaggtgtgactggt	7	13	11	10	0	2	2	1	1	1	1	5	2	5	2	3	3	1	1	3	3	1	3	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.43510G>T	p.Glu14504Ter	p.E14504*	ENST00000397910	84/84	162	151	11	249	249	0	strelka-varscan-mutect	MUC16,stop_gained,p.Glu14504Ter,ENST00000397910,NM_024690.2;MUC16,stop_gained,p.Glu1327Ter,ENST00000599436,;MUC16,3_prime_UTR_variant,,ENST00000601404,;MUC16,3_prime_UTR_variant,,ENST00000596768,;	A	ENST00000397910	Transcript	stop_gained	43714/43816	43510/43524	14504/14507	E/*	Gag/Tag		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008	Q8WXI7		UPI000065CA24	NM_024690.2			84/84		hmmpanther:PTHR14672																	HIGH	1	SNV	5			1										PASS		.	.												A	4	1	104	8848946	8848946	C	A	1	0	0	0	0	0	1	0	0	9972	864	30	2		2	MUC16	19	8848946	Nonsense_Mutation	SNP	C	C3N-02582_TP	4867523	8848946	49768670	97	31778											
AP1M1	0	.	GRCh38	chr19	16206376	16206376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaacgcgtgcgtgtcgCtggtcttttctttcctctat	6	15	10	10	4	3	2	0	0	3	2	5	2	4	2	1	1	2	1	1	1	3	4	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.235C>A	p.Leu79Met	p.L79M	ENST00000444449	3/13	195	174	21	288	288	0	strelka-varscan-mutect	AP1M1,missense_variant,p.Leu79Met,ENST00000291439,NM_032493.3;AP1M1,missense_variant,p.Leu79Met,ENST00000444449,NM_001130524.1;AP1M1,missense_variant,p.Leu79Met,ENST00000429941,;AP1M1,missense_variant,p.Leu53Met,ENST00000591775,;AP1M1,missense_variant,p.Leu53Met,ENST00000589822,;AP1M1,missense_variant,p.Leu53Met,ENST00000590945,;AP1M1,missense_variant,p.Leu79Met,ENST00000590263,;AP1M1,missense_variant,p.Leu16Met,ENST00000589782,;AP1M1,intron_variant,,ENST00000590756,;AP1M1,non_coding_transcript_exon_variant,,ENST00000589991,;AP1M1,non_coding_transcript_exon_variant,,ENST00000586957,;AP1M1,upstream_gene_variant,,ENST00000586461,;AP1M1,upstream_gene_variant,,ENST00000591966,;	A	ENST00000444449	Transcript	missense_variant	328/2311	235/1308	79/435	L/M	Ctg/Atg		1		1	AP1M1	HGNC	HGNC:13667	protein_coding	YES	CCDS46008.1	ENSP00000388996	Q9BXS5		UPI000051DDEE	NM_001130524.1	tolerated(0.37)		3/13		hmmpanther:PTHR10529:SF257,hmmpanther:PTHR10529,Gene3D:3.30.450.60,Pfam_domain:PF01217,Superfamily_domains:SSF64356																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	104	16206376	16206376	C	A	1	0	0	0	0	1	0	0	0	850	796	28	2		2	AP1M1	19	16206376	Missense_Mutation	SNP	C	C3N-02582_TP	7357430	16206376	42411240	98	31779											
ZNF429	0	.	GRCh38	chr19	21537738	21537738	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaaaattcatactggagAgaaaccctacaaatgtaaac	20	8	6	7	0	1	2	1	0	0	2	1	4	1	3	1	1	4	1	1	1	9	5	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.1685A>G	p.Glu562Gly	p.E562G	ENST00000358491	4/4	128	85	43	365	365	0	strelka-varscan-mutect	ZNF429,missense_variant,p.Glu562Gly,ENST00000358491,NM_001001415.2;ZNF429,missense_variant,p.Glu531Gly,ENST00000618549,;ZNF429,intron_variant,,ENST00000597078,;ZNF429,upstream_gene_variant,,ENST00000594385,;ZNF429,downstream_gene_variant,,ENST00000594022,;	G	ENST00000358491	Transcript	missense_variant	1893/2233	1685/2025	562/674	E/G	gAg/gGg		1		1	ZNF429	HGNC	HGNC:20817	protein_coding	YES	CCDS42537.1	ENSP00000351280	Q86V71		UPI000022ABC2	NM_001001415.2	deleterious(0.01)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF367,Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1										PASS		.	.												G	3	3	104	21537738	21537738	A	G	1	0	0	0	0	1	0	0	0	18474	304	11	5		5	ZNF429	19	21537738	Missense_Mutation	SNP	A	C3N-02582_TP	5331362	21537738	37079878	99	31780											
GRIK5	0	.	GRCh38	chr19	41999156	41999156	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgagtagagcttgccgttGctgaggcgcatctcgcggac	6	8	15	12	5	1	2	0	1	1	1	2	4	1	3	2	2	3	5	2	2	1	3			C3N-02582_TP	C3N-02582_NB	G	G																c.2658C>G	p.Ser886Arg	p.S886R	ENST00000262895	19/19	183	158	25	276	276	0	strelka-varscan-mutect	GRIK5,missense_variant,p.Ser886Arg,ENST00000262895,NM_002088.4;GRIK5,missense_variant,p.Ser886Arg,ENST00000593562,;ATP1A3,upstream_gene_variant,,ENST00000545399,NM_001256214.1;ATP1A3,upstream_gene_variant,,ENST00000302102,NM_152296.4;GRIK5,downstream_gene_variant,,ENST00000301218,NM_001301030.1;ATP1A3,upstream_gene_variant,,ENST00000473086,;GRIK5,non_coding_transcript_exon_variant,,ENST00000454993,;ATP1A3,upstream_gene_variant,,ENST00000441343,;GRIK5,downstream_gene_variant,,ENST00000602210,;	C	ENST00000262895	Transcript	missense_variant	2658/3493	2658/2943	886/980	S/R	agC/agG	COSM5446277	1		-1	GRIK5	HGNC	HGNC:4583	protein_coding		CCDS12595.1	ENSP00000262895	Q16478		UPI000013D353	NM_002088.4	deleterious(0)		19/19		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF34											1						MODERATE		SNV	1		1	1										PASS		.	.												C	3	2	104	41999156	41999156	G	C	1	0	0	0	0	1	0	0	0	6659	1310	46	4		4	GRIK5	19	41999156	Missense_Mutation	SNP	G	C3N-02582_TP	20461418	41999156	16618460	100	31781											
ZNF766	0	.	GRCh38	chr19	52290353	52290353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acattaggagaaaaccttacGaatgtaatgagcagggcaaa	18	7	10	6	1	0	2	0	1	0	1	0	4	0	2	1	2	3	3	1	2	7	3			C3N-02582_TP	C3N-02582_NB	G	G																c.562G>A	p.Glu188Lys	p.E188K	ENST00000439461	4/4	80	71	9	186	186	0	strelka-varscan-mutect	ZNF766,missense_variant,p.Glu188Lys,ENST00000439461,NM_001010851.2;ZNF766,missense_variant,p.Glu203Lys,ENST00000593612,;ZNF766,missense_variant,p.Glu129Lys,ENST00000593703,;ZNF766,3_prime_UTR_variant,,ENST00000599581,;ZNF766,downstream_gene_variant,,ENST00000600821,;ZNF766,downstream_gene_variant,,ENST00000595000,;ZNF766,downstream_gene_variant,,ENST00000595149,;CTD-2525I3.5,intron_variant,,ENST00000594865,;	A	ENST00000439461	Transcript	missense_variant	605/6298	562/1407	188/468	E/K	Gaa/Aaa	COSM1000461	1		1	ZNF766	HGNC	HGNC:28063	protein_coding	YES	CCDS46163.1	ENSP00000409652	Q5HY98		UPI0000202AF7	NM_001010851.2	tolerated(1)		4/4		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667											1						MODERATE	1	SNV	1		1	1										PASS		rs1337492997	.												A	3	1	104	52290353	52290353	G	A	1	0	0	0	0	1	0	0	0	18723	1059	37	1		1	ZNF766	19	52290353	Missense_Mutation	SNP	G	C3N-02582_TP	10291197	52290353	6327263	101	31782											
B4GALT5	0	.	GRCh38	chr20	49656638	49656638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctcataaacctgagcaccGattgttctcacgttgtcccg	8	12	8	13	3	2	1	2	1	1	0	4	2	3	1	3	0	3	4	3	0	2	4			C3N-02582_TP	C3N-02582_NB	G	G																c.180C>T	p.=	p.I60I	ENST00000371711	2/9	325	308	17	424	423	1	strelka-varscan-mutect	B4GALT5,synonymous_variant,p.=,ENST00000371711,NM_004776.3;	A	ENST00000371711	Transcript	synonymous_variant	368/4722	180/1167	60/388	I	atC/atT	COSM1136802	1		-1	B4GALT5	HGNC	HGNC:928	protein_coding	YES	CCDS13420.1	ENSP00000360776	O43286		UPI0000126720	NM_004776.3			2/9		hmmpanther:PTHR19300:SF45,hmmpanther:PTHR19300											1						LOW	1	SNV	1		1	1										PASS		rs1347088909	.												A	2	1	104	49656638	49656638	G	A	1	0	0	0	0	0	0	0	1	1430	1048	37	1		1	B4GALT5	20	49656638	Silent	SNP	G	C3N-02582_TP		49656638	14787529	102	31783											
TCF20	0	.	GRCh38	chr22	42213733	42213733	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgatcctctgaactgcTggagcagcctccatctaatg	8	11	9	13	0	2	2	0	2	2	0	4	3	4	3	4	1	4	2	4	1	2	2	novel		C3N-02582_TP	C3N-02582_NB	T	T																c.1573A>T	p.Ser525Cys	p.S525C	ENST00000359486	1/5	163	153	10	301	300	1	strelka-varscan-mutect	TCF20,missense_variant,p.Ser525Cys,ENST00000359486,NM_005650.2;TCF20,missense_variant,p.Ser525Cys,ENST00000335626,NM_181492.2;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;	A	ENST00000359486	Transcript	missense_variant	1710/7410	1573/5883	525/1960	S/C	Agc/Tgc		1		-1	TCF20	HGNC	HGNC:11631	protein_coding	YES	CCDS14033.1	ENSP00000352463	Q9UGU0	W5ZR30	UPI00001A95D9	NM_005650.2	deleterious(0)		1/5		hmmpanther:PTHR14955:SF7,hmmpanther:PTHR14955																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	104	42213733	42213733	T	A	1	0	0	0	0	1	0	0	0	16097	1580	55	4		4	TCF20	22	42213733	Missense_Mutation	SNP	T	C3N-02582_TP		42213733	8604735	103	31784											
PPARA	0	.	GRCh38	chr22	46231835	46231835	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacactgtgtatggctgagaAgacgctggtggccaagctgg	9	8	16	8	1	0	2	0	1	0	2	0	4	0	2	1	4	1	4	1	4	3	1	novel		C3N-02582_TP	C3N-02582_NB	A	A																c.755A>T	p.Lys252Met	p.K252M	ENST00000407236	7/8	145	124	21	270	270	0	strelka-varscan-mutect	PPARA,missense_variant,p.Lys252Met,ENST00000407236,;PPARA,missense_variant,p.Lys252Met,ENST00000262735,NM_005036.4,NM_001001928.2;PPARA,missense_variant,p.Lys252Met,ENST00000402126,;	T	ENST00000407236	Transcript	missense_variant	968/9995	755/1407	252/468	K/M	aAg/aTg		1		1	PPARA	HGNC	HGNC:9232	protein_coding	YES	CCDS33669.1	ENSP00000385523	Q07869	F1D8S4	UPI000000D8E0		deleterious(0.03)		7/8		Gene3D:1.10.565.10,Prints_domain:PR01289,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF197,Superfamily_domains:SSF48508																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	104	46231835	46231835	A	T	1	0	0	0	0	1	0	0	0	12406	72	3	4		4	PPARA	22	46231835	Missense_Mutation	SNP	A	C3N-02582_TP	4018102	46231835	4586633	104	31785											
GRPR	0	.	GRCh38	chrX	16124107	16124107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttatggggttatcattCtgataggcctcattggcaac	9	14	10	8	0	3	1	2	1	1	0	3	1	3	1	1	4	1	3	1	4	4	6	rs74381274		C3N-02582_TP	C3N-02582_NB	C	C																c.154C>A	p.Leu52Met	p.L52M	ENST00000380289	1/3	151	135	16	196	196	0	strelka-varscan-mutect	GRPR,missense_variant,p.Leu52Met,ENST00000380289,NM_005314.2;	A	ENST00000380289	Transcript	missense_variant	552/1929	154/1155	52/384	L/M	Ctg/Atg	rs74381274	1		1	GRPR	HGNC	HGNC:4609	protein_coding	YES	CCDS14174.1	ENSP00000369643	P30550	X5D7H2	UPI00000503FE	NM_005314.2	tolerated(0.1)		1/3		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF116,Gene3D:1.20.1070.10,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237																	MODERATE	1	SNV	1			1										PASS		rs74381274	.												A	3	1	104	16124107	16124107	C	A	1	0	0	0	0	1	0	0	0	6690	912	32	2		2	GRPR	23	16124107	Missense_Mutation	SNP	C	C3N-02582_TP		16124107	139916788	105	31786											
BCOR	0	.	GRCh38	chrX	40074909	40074909	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgttttgtatatagcaCtgaagccatttgggggtttt	7	16	13	5	1	0	1	0	1	0	0	0	1	0	1	1	3	2	4	1	3	4	8	novel		C3N-02582_TP	C3N-02582_NB	C	C																c.437G>C	p.Ser146Thr	p.S146T	ENST00000378444	4/15	158	150	8	196	196	0	strelka-mutect	BCOR,missense_variant,p.Ser146Thr,ENST00000342274,NM_001123383.1;BCOR,missense_variant,p.Ser146Thr,ENST00000378444,NM_001123385.1;BCOR,missense_variant,p.Ser146Thr,ENST00000378455,NM_001123384.1;BCOR,missense_variant,p.Ser146Thr,ENST00000397354,NM_017745.5;BCOR,missense_variant,p.Ser146Thr,ENST00000406200,;BCOR,intron_variant,,ENST00000615339,;BCOR,downstream_gene_variant,,ENST00000412952,;BCOR,non_coding_transcript_exon_variant,,ENST00000490976,;	G	ENST00000378444	Transcript	missense_variant	666/6358	437/5268	146/1755	S/T	aGt/aCt		1		-1	BCOR	HGNC	HGNC:20893	protein_coding	YES	CCDS48093.1	ENSP00000367705	Q6W2J9		UPI00002318CF	NM_001123385.1	tolerated(0.29)		4/15		hmmpanther:PTHR24117:SF8,hmmpanther:PTHR24117																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	104	40074909	40074909	C	G	1	0	0	0	0	1	0	0	0	1533	565	20	4		4	BCOR	23	40074909	Missense_Mutation	SNP	C	C3N-02582_TP	23950802	40074909	115965986	106	31787											
RGAG4	0	.	GRCh38	chrX	72130380	72130380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctcttccttcttcttCatttcttcctccttcttcat	2	23	0	16	0	7	0	2	0	5	0	12	0	11	0	4	0	0	0	4	0	0	9			C3N-02582_TP	C3N-02582_NB	C	C																c.1161G>T	p.Met387Ile	p.M387I	ENST00000609883	1/1	84	77	7	123	123	0	strelka-varscan-mutect	RGAG4,missense_variant,p.Met387Ile,ENST00000609883,NM_001024455.3;NHSL2,intron_variant,,ENST00000633930,NM_001013627.2;NHSL2,intron_variant,,ENST00000631375,;NHSL2,intron_variant,,ENST00000632230,;NHSL2,upstream_gene_variant,,ENST00000510661,;NHSL2,intron_variant,,ENST00000631833,;RGAG4,missense_variant,p.Met387Ile,ENST00000479991,;NHSL2,upstream_gene_variant,,ENST00000373677,;	A	ENST00000609883	Transcript	missense_variant	1449/4105	1161/1710	387/569	M/I	atG/atT	COSM5538146	1		-1	RGAG4	HGNC	HGNC:29430	protein_coding	YES	CCDS55446.1	ENSP00000476792	Q5HYW3		UPI00001C2079	NM_001024455.3	tolerated_low_confidence(0.06)		1/1		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF2,Low_complexity_(Seg):seg											1						MODERATE		SNV			1	1										PASS		.	.												A	3	1	104	72130380	72130380	C	A	1	0	0	0	0	1	0	0	0	13447	826	29	2		2	RGAG4	23	72130380	Missense_Mutation	SNP	C	C3N-02582_TP	32055471	72130380	83910515	107	31788											
AGTR2	0	.	GRCh38	chrX	116173329	116173329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagagagtatgtcttgccGgaaaagcagttctcttagag	13	10	12	6	1	2	3	0	0	2	3	3	5	2	4	1	1	2	3	1	1	5	4			C3N-02582_TP	C3N-02582_NB	G	G																c.1049G>A	p.Arg350Gln	p.R350Q	ENST00000371906	3/3	177	164	13	163	163	0	strelka-varscan-mutect	AGTR2,missense_variant,p.Arg350Gln,ENST00000371906,NM_000686.4;	A	ENST00000371906	Transcript	missense_variant	1239/2882	1049/1092	350/363	R/Q	cGg/cAg	COSM77238	1		1	AGTR2	HGNC	HGNC:338	protein_coding	YES	CCDS14569.1	ENSP00000360973	P50052		UPI0000125687	NM_000686.4	deleterious(0.01)		3/3		Prints_domain:PR00636,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF8,Superfamily_domains:SSF81321											1						MODERATE	1	SNV	1		1	1										PASS		rs1468172864	.												A	3	1	104	116173329	116173329	G	A	1	0	0	0	0	1	0	0	0	481	1116	39	1		1	AGTR2	23	116173329	Missense_Mutation	SNP	G	C3N-02582_TP	44042949	116173329	39867566	108	31789											
DISP3	0	.	GRCh38	chr1	11520812	11520812	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacctcaagtacaacCtgagcgccgagggcatctcc	9	7	11	14	2	2	1	1	1	1	0	3	3	2	2	4	2	4	3	4	2	3	1	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.2326C>A	p.Leu776Met	p.L776M	ENST00000294484	10/21	150	70	80	343	342	1	strelka-varscan-mutect	DISP3,missense_variant,p.Leu776Met,ENST00000294484,NM_020780.1;	A	ENST00000294484	Transcript	missense_variant	2464/5215	2326/4179	776/1392	L/M	Ctg/Atg		1		1	DISP3	HGNC	HGNC:29251	protein_coding	YES	CCDS41247.1	ENSP00000294484	Q9P2K9		UPI00001C1D7A	NM_020780.1	tolerated(0.07)		10/21		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF125																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	105	11520812	11520812	C	A	1	0	0	0	0	1	0	0	0	4347	680	24	2		2	DISP3	1	11520812	Missense_Mutation	SNP	C	C3N-02586_TP		11520812	237435610	1	31790											
ELAVL4	0	.	GRCh38	chr1	50145014	50145014	+	Nonsense_Mutation	SNP	G	G	T																															cgacatccaatacaagcaatGgaccctccagcaacaacaga																										C3N-02586_TP	C3N-02586_NB	G	G																c.175G>T	p.Gly59Ter	p.G59*	ENST00000357083	2/7	343	195	148	607	607	0	strelka-varscan-mutect	ELAVL4,stop_gained,p.Gly23Ter,ENST00000371824,NM_001324212.1,NM_001144774.2;ELAVL4,stop_gained,p.Gly23Ter,ENST00000371827,NM_001144776.2;ELAVL4,stop_gained,p.Gly28Ter,ENST00000371821,;ELAVL4,stop_gained,p.Gly28Ter,ENST00000371819,NM_001294348.1;ELAVL4,stop_gained,p.Gly26Ter,ENST00000448907,NM_001144777.2;ELAVL4,stop_gained,p.Gly23Ter,ENST00000371823,NM_021952.4;ELAVL4,stop_gained,p.Gly59Ter,ENST00000357083,NM_001144775.2;ELAVL4,non_coding_transcript_exon_variant,,ENST00000492299,;ELAVL4,non_coding_transcript_exon_variant,,ENST00000463650,;ELAVL4,non_coding_transcript_exon_variant,,ENST00000494555,;	T	ENST00000357083	Transcript	stop_gained	187/1442	175/1209	59/402	G/*	Gga/Tga	COSM3865743,COSM3865744	1		1	ELAVL4	HGNC	HGNC:3315	protein_coding	YES	CCDS44139.2	ENSP00000349594		A0A0R4J2E6	UPI0000EE2FEB	NM_001144775.2			2/7		Gene3D:3.30.70.330,Low_complexity_(Seg):seg,Superfamily_domains:SSF54928											1,1						HIGH	1	SNV	1		1,1	1										PASS		.	.												T	4	4	105	50145014	50145014	G	T	1	0	0	0	0	0	1	0	0	4885	1349	47	2		2	ELAVL4	1	50145014	Nonsense_Mutation	SNP	G	C3N-02586_TP	38624202	50145014	198811408	2	31791	649	2									
ELAVL4	0	.	GRCh38	chr1	50145015	50145015	+	Missense_Mutation	SNP	G	G	T																															gacatccaatacaagcaatgGaccctccagcaacaacagaa																								novel		C3N-02586_TP	C3N-02586_NB	G	G																c.176G>T	p.Gly59Val	p.G59V	ENST00000357083	2/7	346	194	152	612	612	0	strelka-varscan-mutect	ELAVL4,missense_variant,p.Gly23Val,ENST00000371824,NM_001324212.1,NM_001144774.2;ELAVL4,missense_variant,p.Gly23Val,ENST00000371827,NM_001144776.2;ELAVL4,missense_variant,p.Gly28Val,ENST00000371821,;ELAVL4,missense_variant,p.Gly28Val,ENST00000371819,NM_001294348.1;ELAVL4,missense_variant,p.Gly26Val,ENST00000448907,NM_001144777.2;ELAVL4,missense_variant,p.Gly23Val,ENST00000371823,NM_021952.4;ELAVL4,missense_variant,p.Gly59Val,ENST00000357083,NM_001144775.2;ELAVL4,non_coding_transcript_exon_variant,,ENST00000492299,;ELAVL4,non_coding_transcript_exon_variant,,ENST00000463650,;ELAVL4,non_coding_transcript_exon_variant,,ENST00000494555,;	T	ENST00000357083	Transcript	missense_variant	188/1442	176/1209	59/402	G/V	gGa/gTa		1		1	ELAVL4	HGNC	HGNC:3315	protein_coding	YES	CCDS44139.2	ENSP00000349594		A0A0R4J2E6	UPI0000EE2FEB	NM_001144775.2	tolerated_low_confidence(0.08)		2/7		Gene3D:3.30.70.330,Low_complexity_(Seg):seg,Superfamily_domains:SSF54928																	MODERATE	1	SNV	1			1										PASS		rs1053672972	.												T	3	4	105	50145015	50145015	G	T	1	0	0	0	0	1	0	0	0	4885	1174	41	2		2	ELAVL4	1	50145015	Missense_Mutation	SNP	G	C3N-02586_TP	1	50145015	198811407	3	31792	649	2									
IL23R	0	.	GRCh38	chr1	67200810	67200810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactgattcattacaaggtGgcaagaagtacttggtttgg	11	12	11	7	0	1	2	1	1	0	1	1	2	1	2	1	4	2	3	1	4	5	5	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.565G>T	p.Gly189Cys	p.G189C	ENST00000347310	5/11	287	153	134	625	625	0	strelka-varscan-mutect	IL23R,missense_variant,p.Gly189Cys,ENST00000347310,NM_144701.2;IL23R,5_prime_UTR_variant,,ENST00000637002,;C1orf141,intron_variant,,ENST00000371007,NM_001276351.1;C1orf141,intron_variant,,ENST00000448166,;RNU6-586P,downstream_gene_variant,,ENST00000517265,;	T	ENST00000347310	Transcript	missense_variant	736/2912	565/1890	189/629	G/C	Ggc/Tgc		1		1	IL23R	HGNC	HGNC:19100	protein_coding	YES	CCDS637.1	ENSP00000321345	Q5VWK5		UPI000004CACD	NM_144701.2	deleterious(0)		5/11		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF112,Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	105	67200810	67200810	G	T	1	0	0	0	0	1	0	0	0	7579	1348	47	2		2	IL23R	1	67200810	Missense_Mutation	SNP	G	C3N-02586_TP	17055795	67200810	181755612	4	31793											
CLCA4	0	.	GRCh38	chr1	86563674	86563674	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccacaggcaaactgtttgtCcatgagtgggctcacctccg	8	9	10	14	1	1	1	1	1	0	0	3	1	3	1	4	2	1	3	4	2	1	1	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.462C>T	p.=	p.V154V	ENST00000370563	4/14	150	69	81	280	280	0	strelka-varscan-mutect	CLCA4,synonymous_variant,p.=,ENST00000370563,NM_012128.3;	T	ENST00000370563	Transcript	synonymous_variant	504/3211	462/2760	154/919	V	gtC/gtT		1		1	CLCA4	HGNC	HGNC:2018	protein_coding	YES	CCDS41355.1	ENSP00000359594	Q14CN2		UPI00000389E8	NM_012128.3			4/14		hmmpanther:PTHR10579:SF2,hmmpanther:PTHR10579,TIGRFAM_domain:TIGR00868,Pfam_domain:PF08434																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	105	86563674	86563674	C	T	1	0	0	0	0	0	0	0	1	3223	842	30	3		3	CLCA4	1	86563674	Silent	SNP	C	C3N-02586_TP	19362864	86563674	162392748	5	31794											
FLG	0	.	GRCh38	chr1	152309802	152309802	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtctgcgcccagtgcctGagtctgtggagctgtctgct	3	13	13	12	1	3	1	0	1	3	0	3	2	3	2	2	1	4	2	2	1	0	1	rs772851618		C3N-02586_TP	C3N-02586_NB	G	G																c.5084C>A	p.Ser1695Ter	p.S1695*	ENST00000368799	3/3	389	195	194	731	731	0	strelka-varscan-mutect	FLG,stop_gained,p.Ser1695Ter,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;	T	ENST00000368799	Transcript	stop_gained	5120/12747	5084/12186	1695/4061	S/*	tCa/tAa	rs772851618,CM092260	1		-1	FLG	HGNC	HGNC:3748	protein_coding	YES	CCDS30860.1	ENSP00000357789	P20930		UPI0000470CB3	NM_002016.1			3/3		hmmpanther:PTHR22571:SF21,hmmpanther:PTHR22571,Pfam_domain:PF03516																	HIGH	1	SNV	1		0,1	1										PASS		rs772851618	.												T	4	4	105	152309802	152309802	G	T	1	0	0	0	0	0	1	0	0	5784	1294	45	2		2	FLG	1	152309802	Nonsense_Mutation	SNP	G	C3N-02586_TP	65746128	152309802	96646620	6	31795											
SDHC	0	.	GRCh38	chr1	161356690	161356690	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaggggtctctcttttTggcatgtcggccctgttact	3	16	10	12	1	3	0	1	0	2	0	6	0	4	0	2	4	1	2	2	4	1	3	novel		C3N-02586_TP	C3N-02586_NB	T	T																c.255T>C	p.=	p.F85F	ENST00000367975	5/6	358	198	160	695	695	0	strelka-varscan-mutect	SDHC,synonymous_variant,p.=,ENST00000367975,NM_003001.3;SDHC,synonymous_variant,p.=,ENST00000432287,NM_001035512.1;SDHC,synonymous_variant,p.=,ENST00000392169,NM_001035513.1;SDHC,intron_variant,,ENST00000342751,NM_001035511.1;SDHC,intron_variant,,ENST00000513009,NM_001278172.1;SDHC,3_prime_UTR_variant,,ENST00000470743,;SDHC,3_prime_UTR_variant,,ENST00000504963,;	C	ENST00000367975	Transcript	synonymous_variant	404/13566	255/510	85/169	F	ttT/ttC		1		1	SDHC	HGNC	HGNC:10682	protein_coding	YES	CCDS1230.1	ENSP00000356953	Q99643	A0A0S2Z4B7	UPI0000001636	NM_003001.3			5/6		hmmpanther:PTHR10978:SF3,hmmpanther:PTHR10978,TIGRFAM_domain:TIGR02970,Gene3D:1.20.1300.10,Pfam_domain:PF01127,Superfamily_domains:SSF81343,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	105	161356690	161356690	T	C	1	0	0	0	0	0	0	0	1	14241	1809	63	5		5	SDHC	1	161356690	Silent	SNP	T	C3N-02586_TP	9046888	161356690	87599732	7	31796											
LMX1A	0	.	GRCh38	chr1	165353259	165353259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacttggggctcaccgctCtgcctgtagccacaacagac	9	7	10	15	1	2	2	1	0	1	2	2	2	2	2	3	2	3	3	3	2	2	2	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.80G>T	p.Arg27Ile	p.R27I	ENST00000342310	3/9	117	53	64	181	181	0	strelka-varscan-mutect	LMX1A,missense_variant,p.Arg27Ile,ENST00000342310,NM_177398.3;LMX1A,missense_variant,p.Arg27Ile,ENST00000294816,NM_001174069.1;LMX1A,missense_variant,p.Arg27Ile,ENST00000367893,;	A	ENST00000342310	Transcript	missense_variant	463/3545	80/1149	27/382	R/I	aGa/aTa		1		-1	LMX1A	HGNC	HGNC:6653	protein_coding	YES	CCDS1247.1	ENSP00000340226	Q8TE12		UPI000012E793	NM_177398.3	tolerated_low_confidence(0.18)		3/9		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF88																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	105	165353259	165353259	C	A	1	0	0	0	0	1	0	0	0	8788	927	32	2		2	LMX1A	1	165353259	Missense_Mutation	SNP	C	C3N-02586_TP	3996569	165353259	83603163	8	31797											
TNN	0	.	GRCh38	chr1	175118725	175118725	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggagcagagcagcactGtcctgacgggcctgaggccg	9	4	17	11	2	0	3	0	2	0	1	1	5	1	5	3	4	3	3	3	4	1	0	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.2551G>C	p.Val851Leu	p.V851L	ENST00000239462	11/19	364	222	142	731	731	0	strelka-varscan	TNN,missense_variant,p.Val851Leu,ENST00000239462,NM_022093.1;TNN,missense_variant,p.Val674Leu,ENST00000621086,;TNN,missense_variant,p.Val674Leu,ENST00000622870,;	C	ENST00000239462	Transcript	missense_variant	2664/5008	2551/3900	851/1299	V/L	Gtc/Ctc		1		1	TNN	HGNC	HGNC:22942	protein_coding	YES	CCDS30943.1	ENSP00000239462	Q9UQP3		UPI00001D7DA9	NM_022093.1	tolerated(0.2)		11/19		PROSITE_profiles:PS50853,hmmpanther:PTHR19143:SF252,hmmpanther:PTHR19143,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265																	MODERATE	1	SNV	2			1										PASS		.	.												C	3	2	105	175118725	175118725	G	C	1	0	0	0	0	1	0	0	0	16796	1377	48	4		4	TNN	1	175118725	Missense_Mutation	SNP	G	C3N-02586_TP	9765466	175118725	73837697	9	31798											
DNAH14	0	.	GRCh38	chr1	225264256	225264256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcataagacagcaactggaaGttcaggtatatattatagta	16	12	8	5	0	2	1	2	0	0	1	2	2	2	2	0	2	2	4	0	2	9	8	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.7199G>T	p.Ser2400Ile	p.S2400I	ENST00000430092	47/84	71	35	36	298	298	0	strelka-varscan	DNAH14,missense_variant,p.Ser2400Ile,ENST00000430092,NM_001373.1;DNAH14,missense_variant,p.Ser2400Ile,ENST00000439375,;DNAH14,missense_variant,p.Ser172Ile,ENST00000450490,;DNAH14,intron_variant,,ENST00000445597,;DNAH14,missense_variant,p.Ser167Ile,ENST00000327794,;	T	ENST00000430092	Transcript	missense_variant	7414/13763	7199/13548	2400/4515	S/I	aGt/aTt		1		1	DNAH14	HGNC	HGNC:2945	protein_coding			ENSP00000414402	Q0VDD8		UPI000192C36D	NM_001373.1	tolerated(0.22)		47/84		SMART_domains:SM00382																	MODERATE		SNV	5			1										PASS		.	.												T	3	4	105	225264256	225264256	G	T	1	0	0	0	0	1	0	0	0	4415	1043	36	2		2	DNAH14	1	225264256	Missense_Mutation	SNP	G	C3N-02586_TP	50145531	225264256	23692166	10	31799											
RYR2	0	.	GRCh38	chr1	237784821	237784821	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgacttaaaggagctgaCagaggaaagtgaccttcttt	13	9	11	8	1	1	3	0	2	1	1	1	7	1	5	2	2	1	1	2	2	3	3	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.13109C>G	p.Thr4370Arg	p.T4370R	ENST00000366574	90/105	99	52	47	159	159	0	strelka-varscan	RYR2,missense_variant,p.Thr4370Arg,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Thr4354Arg,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;	G	ENST00000366574	Transcript	missense_variant	13426/16562	13109/14904	4370/4967	T/R	aCa/aGa		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2	tolerated(0.5)		90/105		Pfam_domain:PF06459,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	105	237784821	237784821	C	G	1	0	0	0	0	1	0	0	0	14029	478	17	4		4	RYR2	1	237784821	Missense_Mutation	SNP	C	C3N-02586_TP	12520565	237784821	11171601	11	31800											
FMN2	0	.	GRCh38	chr1	240207646	240207646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcgggaatacctcctcCgccccctctacccggagcgg	6	5	12	18	5	1	0	0	0	1	0	3	3	3	3	6	4	4	0	6	4	3	2	rs193049501		C3N-02586_TP	C3N-02586_NB	C	C																c.2834C>T	p.Pro945Leu	p.P945L	ENST00000319653	5/18	62	47	15	117	115	2	strelka-varscan	FMN2,missense_variant,p.Pro945Leu,ENST00000319653,NM_001305424.1,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;	T	ENST00000319653	Transcript	missense_variant	3064/6434	2834/5169	945/1722	P/L	cCg/cTg	rs193049501	1		1	FMN2	HGNC	HGNC:14074	protein_coding	YES	CCDS31069.2	ENSP00000318884	Q9NZ56		UPI00015FA087	NM_001305424.1,NM_020066.4	deleterious_low_confidence(0.04)		5/18		Pfam_domain:PF06346,Prints_domain:PR01217,Low_complexity_(Seg):seg,SMART_domains:SM00498																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	105	240207646	240207646	C	T	1	0	0	0	0	1	0	0	0	5806	652	23	1		1	FMN2	1	240207646	Missense_Mutation	SNP	C	C3N-02586_TP	2422825	240207646	8748776	12	31801											
TDRD15	0	.	GRCh38	chr2	21141353	21141353	+	Frame_Shift_Del	DEL	A	A	-																															cgcaaatttatttgaatgccAaagttaaagggtatgtatct																								novel		C3N-02586_TP	C3N-02586_NB	A	A																c.3888delA	p.Val1297LeufsTer24	p.V1297Lfs*24	ENST00000405799	4/4	98	49	49	315	315	0	sindel-varindel-pindel	TDRD15,frameshift_variant,p.Val1297LeufsTer24,ENST00000405799,;TDRD15,frameshift_variant,p.Val1297LeufsTer24,ENST00000622654,;	-	ENST00000405799	Transcript	frameshift_variant	4216/6135	3886/5805	1296/1934	K/X	Aaa/aa		1		1	TDRD15	HGNC	HGNC:45037	protein_coding	YES	CCDS77385.1	ENSP00000384376	B5MCY1		UPI000173A3F5				4/4		Pfam_domain:PF00567,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7																	HIGH	1	deletion	2	2		1										PASS		.	.												-	7	5	105	21141353	21141353	A	-	1	0	1	0	1	0	0	0	0	16141	131	5	0		0	TDRD15	2	21141353	Frame_Shift_Del	DEL	A	C3N-02586_TP		21141353	221052176	13	31802											
LRRTM4	0	.	GRCh38	chr2	77519664	77519664	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctgaatgctgttgaaccTtaatgataagccttgtgacc	10	14	8	9	0	1	4	0	4	1	0	1	4	1	4	3	0	3	2	3	0	4	5	novel		C3N-02586_TP	C3N-02586_NB	T	T																c.205A>T	p.Arg69Trp	p.R69W	ENST00000409093	3/4	317	154	163	610	610	0	strelka-varscan	LRRTM4,missense_variant,p.Arg69Trp,ENST00000409088,NM_024993.4;LRRTM4,missense_variant,p.Arg70Trp,ENST00000409911,;LRRTM4,missense_variant,p.Arg70Trp,ENST00000409282,NM_001282928.1;LRRTM4,missense_variant,p.Arg69Trp,ENST00000409093,NM_001282924.1;LRRTM4,missense_variant,p.Arg69Trp,ENST00000409884,NM_001134745.1;LRRTM4,downstream_gene_variant,,ENST00000456154,;	A	ENST00000409093	Transcript	missense_variant	542/2247	205/1773	69/590	R/W	Agg/Tgg		1		-1	LRRTM4	HGNC	HGNC:19411	protein_coding	YES	CCDS46346.1	ENSP00000386357	Q86VH4		UPI0000047808	NM_001282924.1	deleterious(0)		3/4		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF1,Gene3D:3.80.10.10,Pfam_domain:PF13855,Superfamily_domains:SSF52058																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	105	77519664	77519664	T	A	1	0	0	0	0	1	0	0	0	8948	1608	56	4		4	LRRTM4	2	77519664	Missense_Mutation	SNP	T	C3N-02586_TP	56378311	77519664	164673865	14	31803											
LYPD6B	0	.	GRCh38	chr2	149212992	149212992	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtttcctcttgcctagAtacacagtactgtttgacag	8	17	7	9	0	1	2	0	1	1	1	2	2	2	2	2	0	3	3	2	0	3	8	novel		C3N-02586_TP	C3N-02586_NB	A	A																c.329A>G	p.Asn110Ser	p.N110S	ENST00000409642	6/7	137	68	69	251	251	0	strelka-varscan-mutect	LYPD6B,missense_variant,p.Asn110Ser,ENST00000409642,NM_177964.3;LYPD6B,missense_variant,p.Asn86Ser,ENST00000409029,NM_001317004.1;LYPD6B,missense_variant,p.Asn86Ser,ENST00000409876,;LYPD6B,missense_variant,p.Asn86Ser,ENST00000280115,;LYPD6B,splice_region_variant,,ENST00000498249,;LYPD6B,downstream_gene_variant,,ENST00000442722,;	G	ENST00000409642	Transcript	missense_variant,splice_region_variant	730/1577	329/624	110/207	N/S	aAt/aGt		1		1	LYPD6B	HGNC	HGNC:27018	protein_coding	YES	CCDS46423.1	ENSP00000387077	Q8NI32		UPI00001BDB14	NM_177964.3			6/7		Pfam_domain:PF16975,hmmpanther:PTHR31171,hmmpanther:PTHR31171:SF3,Superfamily_domains:SSF57302																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	105	149212992	149212992	A	G	1	0	0	0	0	1	0	0	0	9026	347	12	5		5	LYPD6B	2	149212992	Missense_Mutation	SNP	A	C3N-02586_TP	71693328	149212992	92980537	15	31804											
CYP20A1	0	.	GRCh38	chr2	203251976	203251976	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctgtttcagcggacccttTtgaaaccatgctgaagtcat	9	13	9	10	1	3	2	2	2	1	0	3	3	3	3	2	1	3	2	2	1	2	3	novel		C3N-02586_TP	C3N-02586_NB	T	T																c.299T>G	p.Phe100Cys	p.F100C	ENST00000356079	4/13	83	45	38	228	228	0	strelka-varscan-mutect	CYP20A1,missense_variant,p.Phe100Cys,ENST00000356079,NM_177538.2;CYP20A1,missense_variant,p.Phe100Cys,ENST00000429815,;CYP20A1,missense_variant,p.Phe100Cys,ENST00000443941,;CYP20A1,5_prime_UTR_variant,,ENST00000613925,;CYP20A1,non_coding_transcript_exon_variant,,ENST00000461371,;CYP20A1,non_coding_transcript_exon_variant,,ENST00000463131,;CYP20A1,non_coding_transcript_exon_variant,,ENST00000489360,;CYP20A1,missense_variant,p.Phe44Leu,ENST00000431118,;CYP20A1,missense_variant,p.Phe100Cys,ENST00000449301,;CYP20A1,missense_variant,p.Phe44Leu,ENST00000428265,;	G	ENST00000356079	Transcript	missense_variant	422/1949	299/1389	100/462	F/C	tTt/tGt		1		1	CYP20A1	HGNC	HGNC:20576	protein_coding	YES	CCDS2357.1	ENSP00000348380	Q6UW02		UPI0000048EFF	NM_177538.2	deleterious(0)		4/13		hmmpanther:PTHR24280,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	105	203251976	203251976	T	G	1	0	0	0	0	1	0	0	0	3955	1841	64	5		5	CYP20A1	2	203251976	Missense_Mutation	SNP	T	C3N-02586_TP	54038984	203251976	38941553	16	31805											
EAF2	0	.	GRCh38	chr3	121872663	121872663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagatgaagattgcaaatCctctacttctgatacaggga	15	10	9	7	0	2	5	0	2	2	3	3	6	3	6	1	1	3	1	1	1	5	4			C3N-02586_TP	C3N-02586_NB	C	C																c.611C>A	p.Ser204Tyr	p.S204Y	ENST00000273668	5/6	123	72	51	416	416	0	strelka-varscan	EAF2,missense_variant,p.Ser204Tyr,ENST00000273668,NM_018456.4;EAF2,missense_variant,p.Ser204Tyr,ENST00000451944,;EAF2,3_prime_UTR_variant,,ENST00000490434,NM_001320041.1;	A	ENST00000273668	Transcript	missense_variant	682/992	611/783	204/260	S/Y	tCc/tAc	COSM3586053	1		1	EAF2	HGNC	HGNC:23115	protein_coding	YES	CCDS3006.1	ENSP00000273668	Q96CJ1		UPI000000D7DA	NM_018456.4	tolerated(0.08)		5/6		Low_complexity_(Seg):seg,hmmpanther:PTHR15970:SF7,hmmpanther:PTHR15970											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	105	121872663	121872663	C	A	1	0	0	0	0	1	0	0	0	4700	855	30	2		2	EAF2	3	121872663	Missense_Mutation	SNP	C	C3N-02586_TP		121872663	76422896	17	31806											
DBR1	0	.	GRCh38	chr3	138161899	138161901	+	In_Frame_Del	DEL	TCG	TCG	-																															gtaaatcatcttaagctgcaTcgtcatcatcatcatccact																								rs376362448		C3N-02586_TP	C3N-02586_NB	TCG	TCG																c.1623_1625delCGA	p.Asp542del	p.D542del	ENST00000260803	8/8	93	88	5	147	146	1	varindel-pindel	DBR1,inframe_deletion,p.Asp542del,ENST00000260803,NM_016216.3;DBR1,downstream_gene_variant,,ENST00000477557,;DBR1,downstream_gene_variant,,ENST00000460271,;	-	ENST00000260803	Transcript	inframe_deletion	1777-1779/2666	1623-1625/1635	541-542/544	DD/D	gaCGAt/gat	rs376362448,COSM1723934	1		-1	DBR1	HGNC	HGNC:15594	protein_coding	YES	CCDS33863.1	ENSP00000260803	Q9UK59		UPI000006DFC5	NM_016216.3			8/8		Low_complexity_(Seg):seg											0,1						MODERATE	1	deletion	1		0,1	1										PASS		.	.												-	7	5	105	138161899	138161899	TCG	-	1	0	1	0	1	0	0	0	0	4057	1435	50	0		0	DBR1	3	138161899	In_Frame_Del	DEL	TCG	C3N-02586_TP	16289236	138161899	60133660	18	31807											
SLITRK3	0	.	GRCh38	chr3	165189091	165189091	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccacactgactgagctGatggtttcgatccactgttt	9	12	8	12	1	0	3	0	3	0	0	2	4	1	3	3	1	2	3	3	1	1	2	rs569158591		C3N-02586_TP	C3N-02586_NB	G	G																c.1740C>A	p.=	p.I580I	ENST00000475390	2/2	303	238	65	575	575	0	strelka-varscan	SLITRK3,synonymous_variant,p.=,ENST00000475390,NM_001318811.1,NM_001318810.1;SLITRK3,synonymous_variant,p.=,ENST00000241274,NM_014926.2;SLITRK3,downstream_gene_variant,,ENST00000497724,;	T	ENST00000475390	Transcript	synonymous_variant	2184/4555	1740/2934	580/977	I	atC/atA	rs569158591	1		-1	SLITRK3	HGNC	HGNC:23501	protein_coding	YES	CCDS3197.1	ENSP00000420091	O94933		UPI000004F259	NM_001318811.1,NM_001318810.1			2/2		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF14,Gene3D:3.80.10.10,SMART_domains:SM00082,Superfamily_domains:SSF52058																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	105	165189091	165189091	G	T	1	0	0	0	0	0	0	0	1	15035	1280	45	2		2	SLITRK3	3	165189091	Silent	SNP	G	C3N-02586_TP	27027192	165189091	33106468	19	31808											
IDUA	0	.	GRCh38	chr4	987163	987163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcccccggtggccccggccGaggccccgcacctggtgcat	3	4	14	20	5	0	0	0	0	0	0	0	1	0	0	8	5	1	2	8	5	0	0	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.79G>A	p.Glu27Lys	p.E27K	ENST00000247933	1/14	116	66	50	227	227	0	strelka-varscan-mutect	IDUA,missense_variant,p.Glu27Lys,ENST00000247933,NM_000203.4;IDUA,missense_variant,p.Glu27Lys,ENST00000502910,;IDUA,synonymous_variant,p.=,ENST00000504568,;SLC26A1,intron_variant,,ENST00000398520,NM_134425.2;SLC26A1,intron_variant,,ENST00000622731,;SLC26A1,downstream_gene_variant,,ENST00000361661,NM_213613.3;SLC26A1,downstream_gene_variant,,ENST00000398516,NM_022042.3;IDUA,upstream_gene_variant,,ENST00000509948,;IDUA,upstream_gene_variant,,ENST00000514192,;DGKQ,upstream_gene_variant,,ENST00000510286,;IDUA,upstream_gene_variant,,ENST00000509744,;SLC26A1,downstream_gene_variant,,ENST00000513138,;IDUA,non_coding_transcript_exon_variant,,ENST00000514698,;IDUA,non_coding_transcript_exon_variant,,ENST00000506561,;IDUA,non_coding_transcript_exon_variant,,ENST00000508168,;	A	ENST00000247933	Transcript	missense_variant	167/2163	79/1962	27/653	E/K	Gag/Aag		1		1	IDUA	HGNC	HGNC:5391	protein_coding	YES	CCDS3343.1	ENSP00000247933	P35475		UPI00004571D0	NM_000203.4	tolerated_low_confidence(0.13)		1/14		Pfam_domain:PF01229,hmmpanther:PTHR12631,hmmpanther:PTHR12631:SF8,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1297418198	.												A	3	1	105	987163	987163	G	A	1	0	0	0	0	1	0	0	0	7405	1059	37	1		1	IDUA	4	987163	Missense_Mutation	SNP	G	C3N-02586_TP		987163	189227392	20	31809											
FAM193A	0	.	GRCh38	chr4	2662969	2662969	+	Frame_Shift_Del	DEL	A	A	-																															cgaattgaatggtggcggggAaaacatggccctgaaggatg																								novel		C3N-02586_TP	C3N-02586_NB	A	A																c.1007delA	p.Asn336ThrfsTer4	p.N336Tfs*4	ENST00000324666	9/20	78	38	40	140	140	0	sindel-varindel-pindel	FAM193A,frameshift_variant,p.Asn627ThrfsTer4,ENST00000637812,;FAM193A,frameshift_variant,p.Asn336ThrfsTer4,ENST00000324666,NM_001256666.1;FAM193A,frameshift_variant,p.Asn336ThrfsTer4,ENST00000382839,NM_003704.3;FAM193A,frameshift_variant,p.Asn336ThrfsTer4,ENST00000505311,NM_001256668.1;FAM193A,frameshift_variant,p.Asn358ThrfsTer4,ENST00000502458,NM_001256667.1;FAM193A,frameshift_variant,p.Asn336ThrfsTer4,ENST00000545951,;FAM193A,frameshift_variant,p.Asn190ThrfsTer4,ENST00000513350,;FAM193A,frameshift_variant,p.Asn336ThrfsTer4,ENST00000512465,;FAM193A,frameshift_variant,p.Asn336ThrfsTer4,ENST00000513898,;FAM193A,non_coding_transcript_exon_variant,,ENST00000506904,;	-	ENST00000324666	Transcript	frameshift_variant	1355/4846	1004/3798	335/1265	E/X	gAa/ga		1		1	FAM193A	HGNC	HGNC:16822	protein_coding	YES	CCDS58875.1	ENSP00000324587	P78312		UPI0000551BCA	NM_001256666.1			9/20		hmmpanther:PTHR15109:SF2,hmmpanther:PTHR15109																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	105	2662969	2662969	A	-	1	0	1	0	1	0	0	0	0	5371	246	9	0		0	FAM193A	4	2662969	Frame_Shift_Del	DEL	A	C3N-02586_TP	1675806	2662969	187551586	21	31810											
WDR19	0	.	GRCh38	chr4	39224930	39224930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagactggcaattcgttaAtgattatcgacatcctgtca	12	13	8	8	2	1	3	1	2	0	1	4	4	2	3	1	1	0	2	1	1	4	3	novel		C3N-02586_TP	C3N-02586_NB	A	A																c.1526A>G	p.Asn509Ser	p.N509S	ENST00000399820	15/37	88	45	43	304	304	0	strelka-varscan-mutect	WDR19,missense_variant,p.Asn509Ser,ENST00000399820,NM_025132.3;WDR19,intron_variant,,ENST00000511729,;WDR19,upstream_gene_variant,,ENST00000515631,;WDR19,3_prime_UTR_variant,,ENST00000506869,NM_001317924.1;WDR19,non_coding_transcript_exon_variant,,ENST00000512095,;WDR19,upstream_gene_variant,,ENST00000507228,;	G	ENST00000399820	Transcript	missense_variant	1680/4520	1526/4029	509/1342	N/S	aAt/aGt		1		1	WDR19	HGNC	HGNC:18340	protein_coding	YES	CCDS47042.1	ENSP00000382717	Q8NEZ3		UPI000004CC24	NM_025132.3	tolerated(0.4)		15/37		Pfam_domain:PF15911,hmmpanther:PTHR14920,hmmpanther:PTHR14920:SF0,Superfamily_domains:SSF82171																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	105	39224930	39224930	A	G	1	0	0	0	0	1	0	0	0	17839	101	4	5		5	WDR19	4	39224930	Missense_Mutation	SNP	A	C3N-02586_TP	36561961	39224930	150989625	22	31811											
SLC9B1	0	.	GRCh38	chr4	102906540	102906542	+	In_Frame_Del	DEL	AAT	AAT	-																															ctctaattattcttaccaacAatatttgattcaagcgatga																								rs764612801		C3N-02586_TP	C3N-02586_NB	AAT	AAT																c.1189_1191delATT	p.Ile397del	p.I397del	ENST00000296422	10/12	78	69	9	258	256	2	varindel-pindel	SLC9B1,inframe_deletion,p.Ile397del,ENST00000296422,NM_139173.3;SLC9B1,inframe_deletion,p.Ile397del,ENST00000394789,NM_001100874.2;SLC9B1,inframe_deletion,p.Ile122del,ENST00000511253,;SLC9B1,downstream_gene_variant,,ENST00000514340,;SLC9B1,non_coding_transcript_exon_variant,,ENST00000509614,;SLC9B1,intron_variant,,ENST00000512651,;SLC9B1,3_prime_UTR_variant,,ENST00000514972,;SLC9B1,3_prime_UTR_variant,,ENST00000503584,;SLC9B1,3_prime_UTR_variant,,ENST00000504216,;SLC9B1,downstream_gene_variant,,ENST00000510243,;	-	ENST00000296422	Transcript	inframe_deletion	1331-1333/1879	1189-1191/1548	397/515	I/-	ATT/-	rs764612801	1		-1	SLC9B1	HGNC	HGNC:24244	protein_coding	YES	CCDS34041.1	ENSP00000296422	Q4ZJI4		UPI000020B281	NM_139173.3			10/12		hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5,Pfam_domain:PF00999																	MODERATE	1	deletion	1			1										PASS		.	.												-	7	5	105	102906540	102906540	AAT	-	1	0	1	0	1	0	0	0	0	15004	144	5	0		0	SLC9B1	4	102906540	In_Frame_Del	DEL	AAT	C3N-02586_TP	63681610	102906540	87308015	23	31812											
FAM149A	0	.	GRCh38	chr4	186153670	186153670	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taggaagacagctgatcctgCccactgacaaaggcgtccag	12	6	11	12	1	0	3	0	2	0	1	2	4	2	4	3	2	2	1	3	2	3	1	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.112C>G	p.Pro38Ala	p.P38A	ENST00000227065	5/14	133	70	63	214	214	0	strelka-varscan-mutect	FAM149A,missense_variant,p.Pro329Ala,ENST00000356371,;FAM149A,missense_variant,p.Pro38Ala,ENST00000227065,NM_015398.2,NM_001006655.2;FAM149A,missense_variant,p.Pro38Ala,ENST00000514153,;FAM149A,missense_variant,p.Pro38Ala,ENST00000503432,;FAM149A,missense_variant,p.Pro38Ala,ENST00000502970,;FAM149A,missense_variant,p.Pro38Ala,ENST00000389354,;FAM149A,missense_variant,p.Pro38Ala,ENST00000504330,;FAM149A,missense_variant,p.Pro38Ala,ENST00000510790,;FAM149A,downstream_gene_variant,,ENST00000509574,;FAM149A,non_coding_transcript_exon_variant,,ENST00000514829,;FAM149A,non_coding_transcript_exon_variant,,ENST00000513030,;FAM149A,downstream_gene_variant,,ENST00000513212,;FAM149A,downstream_gene_variant,,ENST00000508379,;FAM149A,non_coding_transcript_exon_variant,,ENST00000515078,;RPSAP70,upstream_gene_variant,,ENST00000504462,;	G	ENST00000227065	Transcript	missense_variant	691/2708	112/1449	38/482	P/A	Ccc/Gcc		1		1	FAM149A	HGNC	HGNC:24527	protein_coding	YES	CCDS34117.1	ENSP00000227065	A5PLN7		UPI00001C1E1F	NM_015398.2,NM_001006655.2	deleterious(0)		5/14		Pfam_domain:PF12516,hmmpanther:PTHR31997,hmmpanther:PTHR31997:SF2																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	105	186153670	186153670	C	G	1	0	0	0	0	1	0	0	0	5304	739	26	4		4	FAM149A	4	186153670	Missense_Mutation	SNP	C	C3N-02586_TP	83247130	186153670	4060885	24	31813											
FAM105A	0	.	GRCh38	chr5	14607341	14607341	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttcaagcttcctgaaaaActgctgttttcacaaggttg	10	15	7	9	0	2	1	2	1	0	0	3	1	3	1	1	1	3	4	1	1	4	6	novel		C3N-02586_TP	C3N-02586_NB	A	A																c.510A>G	p.=	p.K170K	ENST00000274217	6/8	215	159	56	271	269	2	strelka-varscan	FAM105A,synonymous_variant,p.=,ENST00000274217,NM_019018.2;FAM105A,non_coding_transcript_exon_variant,,ENST00000513825,;FAM105A,upstream_gene_variant,,ENST00000506258,;	G	ENST00000274217	Transcript	synonymous_variant	630/3597	510/1071	170/356	K	aaA/aaG		1		1	FAM105A	HGNC	HGNC:25629	protein_coding	YES	CCDS3884.1	ENSP00000274217	Q9NUU6		UPI000004A036	NM_019018.2			6/8		Pfam_domain:PF16218,Prints_domain:PR02056,hmmpanther:PTHR33662,hmmpanther:PTHR33662:SF1																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	105	14607341	14607341	A	G	1	0	0	0	0	0	0	0	1	5255	40	2	5		5	FAM105A	5	14607341	Silent	SNP	A	C3N-02586_TP		14607341	166930918	25	31814											
ADAMTS12	0	.	GRCh38	chr5	33576988	33576988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttagtgttggtgggttttttCcattggaaatagtgcctttg	6	19	12	4	0	0	0	0	0	0	0	1	1	1	1	2	3	1	2	2	3	3	8			C3N-02586_TP	C3N-02586_NB	C	C																c.3038G>T	p.Gly1013Val	p.G1013V	ENST00000504830	19/24	765	606	159	730	730	0	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Gly1013Val,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Gly928Val,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;	A	ENST00000504830	Transcript	missense_variant	3374/8774	3038/4785	1013/1594	G/V	gGa/gTa	COSM5589545	1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	tolerated(0.2)		19/24													1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	105	33576988	33576988	C	A	1	0	0	0	0	1	0	0	0	301	855	30	2		2	ADAMTS12	5	33576988	Missense_Mutation	SNP	C	C3N-02586_TP	18969647	33576988	147961271	26	31815											
ADAMTS12	0	.	GRCh38	chr5	33614354	33614354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtactcatacttgatgccaGggttagtcacctggaataga	11	12	10	8	0	2	2	2	1	0	1	2	3	2	3	2	2	3	2	2	2	5	5	rs773052280		C3N-02586_TP	C3N-02586_NB	G	G																c.2411C>A	p.Pro804His	p.P804H	ENST00000504830	16/24	253	197	56	225	224	1	strelka-varscan-mutect	ADAMTS12,missense_variant,p.Pro804His,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Pro719His,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000506952,;	T	ENST00000504830	Transcript	missense_variant	2747/8774	2411/4785	804/1594	P/H	cCt/cAt	rs773052280	1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2	deleterious(0)		16/24		Pfam_domain:PF05986,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF189																	MODERATE	1	SNV	1			1										PASS		rs773052280	.												T	3	4	105	33614354	33614354	G	T	1	0	0	0	0	1	0	0	0	301	1000	35	2		2	ADAMTS12	5	33614354	Missense_Mutation	SNP	G	C3N-02586_TP	37366	33614354	147923905	27	31816											
RANBP3L	0	.	GRCh38	chr5	36261951	36261951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacttaccctactgatgttGcacctaaaaagtcctggtta	12	13	6	10	0	0	1	0	1	0	0	1	1	1	1	3	1	4	3	3	1	7	6	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.647C>A	p.Ala216Glu	p.A216E	ENST00000502994	8/15	141	96	45	260	260	0	strelka-varscan-mutect	RANBP3L,missense_variant,p.Ala191Glu,ENST00000296604,NM_145000.3;RANBP3L,missense_variant,p.Ala216Glu,ENST00000502994,NM_001161429.1;RANBP3L,missense_variant,p.Ala191Glu,ENST00000515759,;RANBP3L,downstream_gene_variant,,ENST00000505865,;	T	ENST00000502994	Transcript	missense_variant	1131/2278	647/1473	216/490	A/E	gCa/gAa		1		-1	RANBP3L	HGNC	HGNC:26353	protein_coding	YES	CCDS54843.1	ENSP00000421853	Q86VV4		UPI0001A5C4B2	NM_001161429.1	tolerated(0.26)		8/15		hmmpanther:PTHR23138:SF88,hmmpanther:PTHR23138																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	105	36261951	36261951	G	T	1	0	0	0	0	1	0	0	0	13189	1319	46	2		2	RANBP3L	5	36261951	Missense_Mutation	SNP	G	C3N-02586_TP	2647597	36261951	145276308	28	31817											
SEPP1	0	.	GRCh38	chr5	42800750	42800750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcattctcacttttttgcCtgattctttcagcgtcaact	6	18	6	11	1	5	1	4	1	2	0	6	1	5	1	1	1	3	0	1	1	1	6	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.1116G>T	p.Gln372His	p.Q372H	ENST00000514985	5/5	136	98	38	152	152	0	strelka-varscan-mutect	SEPP1,missense_variant,p.Gln372His,ENST00000514985,NM_005410.2;SEPP1,missense_variant,p.Gln372His,ENST00000506577,;SEPP1,missense_variant,p.Gln372His,ENST00000511224,NM_001085486.1;CCDC152,3_prime_UTR_variant,,ENST00000361970,NM_001134848.1;CCDC152,downstream_gene_variant,,ENST00000388827,;SEPP1,downstream_gene_variant,,ENST00000514218,;SEPP1,downstream_gene_variant,,ENST00000510965,;SEPP1,downstream_gene_variant,,ENST00000507920,;SEPP1,downstream_gene_variant,,ENST00000509276,;SEPP1,downstream_gene_variant,,ENST00000513303,;SEPP1,non_coding_transcript_exon_variant,,ENST00000512980,;SEPP1,downstream_gene_variant,,ENST00000514403,;SEPP1,downstream_gene_variant,,ENST00000505309,;	A	ENST00000514985	Transcript	missense_variant	1373/2243	1116/1146	372/381	Q/H	caG/caT		1		-1	SEPP1	HGNC	HGNC:10751	protein_coding	YES	CCDS43311.1	ENSP00000420939	P49908		UPI00001C1D4A	NM_005410.2	deleterious_low_confidence(0.01)		5/5		Pfam_domain:PF04593																	MODERATE	1	SNV	1			1										PASS		rs1348743808	.												A	3	1	105	42800750	42800750	C	A	1	0	0	0	0	1	0	0	0	14333	680	24	2		2	SEPP1	5	42800750	Missense_Mutation	SNP	C	C3N-02586_TP	6538799	42800750	138737509	29	31818											
ADGRV1	0	.	GRCh38	chr5	90711290	90711290	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcagaatttggaagcaCaagtggggctggattatatc	12	11	12	6	0	1	1	1	0	0	1	2	3	1	3	0	4	2	3	0	4	5	3	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.9010C>T	p.Gln3004Ter	p.Q3004*	ENST00000405460	41/90	119	66	53	240	240	0	strelka-varscan-mutect	ADGRV1,stop_gained,p.Gln3004Ter,ENST00000405460,NM_032119.3;ADGRV1,stop_gained,p.Gln570Ter,ENST00000509621,;	T	ENST00000405460	Transcript	stop_gained	9106/19338	9010/18921	3004/6306	Q/*	Caa/Taa		1		1	ADGRV1	HGNC	HGNC:17416	protein_coding	YES	CCDS47246.1	ENSP00000384582	Q8WXG9		UPI00002127A7	NM_032119.3			41/90		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237,Superfamily_domains:SSF141072																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	105	90711290	90711290	C	T	1	0	0	0	0	0	1	0	0	379	479	17	3		3	ADGRV1	5	90711290	Nonsense_Mutation	SNP	C	C3N-02586_TP	47910540	90711290	90826969	30	31819											
LNPEP	0	.	GRCh38	chr5	97006099	97006099	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccaaacactagatgtaaaGagaatgatgaaaacctggac	20	6	8	7	0	0	4	0	2	0	2	0	6	0	5	2	1	3	1	2	1	8	2	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.1812G>A	p.=	p.K604K	ENST00000231368	10/18	70	66	4	203	203	0	varscan-mutect	LNPEP,synonymous_variant,p.=,ENST00000231368,NM_005575.2;LNPEP,synonymous_variant,p.=,ENST00000395770,NM_175920.3;LNPEP,non_coding_transcript_exon_variant,,ENST00000473914,;	A	ENST00000231368	Transcript	synonymous_variant	2504/12752	1812/3078	604/1025	K	aaG/aaA		1		1	LNPEP	HGNC	HGNC:6656	protein_coding	YES	CCDS4087.1	ENSP00000231368	Q9UIQ6		UPI000013C94B	NM_005575.2			10/18		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF42,Gene3D:1.10.390.10,Superfamily_domains:SSF55486																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	105	97006099	97006099	G	A	1	0	0	0	0	0	0	0	1	8791	933	33	3		3	LNPEP	5	97006099	Silent	SNP	G	C3N-02586_TP	6294809	97006099	84532160	31	31820											
CAMK4	0	.	GRCh38	chr5	111394761	111394761	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgctgcagatgccgttaaAcaaatcctggaggcagttgc	11	9	12	9	1	0	1	0	0	0	1	1	3	1	2	2	2	5	5	2	2	3	2	novel		C3N-02586_TP	C3N-02586_NB	A	A																c.438A>G	p.=	p.K146K	ENST00000282356	5/11	157	90	67	348	346	2	strelka-varscan-mutect	CAMK4,synonymous_variant,p.=,ENST00000282356,NM_001323377.1,NM_001323376.1,NM_001323374.1,NM_001323375.1,NM_001744.4;CAMK4,synonymous_variant,p.=,ENST00000512453,;CAMK4,downstream_gene_variant,,ENST00000508074,;CAMK4,non_coding_transcript_exon_variant,,ENST00000505763,;CAMK4,non_coding_transcript_exon_variant,,ENST00000509408,;CAMK4,non_coding_transcript_exon_variant,,ENST00000502916,;CAMK4,3_prime_UTR_variant,,ENST00000515231,;CAMK4,3_prime_UTR_variant,,ENST00000514007,;CAMK4,3_prime_UTR_variant,,ENST00000504544,;	G	ENST00000282356	Transcript	synonymous_variant	836/12240	438/1422	146/473	K	aaA/aaG		1		1	CAMK4	HGNC	HGNC:1464	protein_coding	YES	CCDS4103.1	ENSP00000282356	Q16566		UPI000000128E	NM_001323377.1,NM_001323376.1,NM_001323374.1,NM_001323375.1,NM_001744.4			5/11		PROSITE_profiles:PS50011,hmmpanther:PTHR24349,hmmpanther:PTHR24349:SF152,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	105	111394761	111394761	A	G	1	0	0	0	0	0	0	0	1	2296	40	2	5		5	CAMK4	5	111394761	Silent	SNP	A	C3N-02586_TP	14388662	111394761	70143498	32	31821											
SEMA6A	0	.	GRCh38	chr5	116504869	116504869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccatgcgaaatactgattgGctcagaatcttctgggaaac	12	10	10	9	1	3	2	1	1	2	1	3	4	3	3	1	2	3	1	1	2	4	3	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.76C>A	p.Pro26Thr	p.P26T	ENST00000257414	2/20	219	121	98	489	489	0	strelka-varscan	SEMA6A,missense_variant,p.Pro26Thr,ENST00000343348,NM_020796.4;SEMA6A,missense_variant,p.Pro26Thr,ENST00000257414,NM_001300780.1;SEMA6A,missense_variant,p.Pro26Thr,ENST00000510263,;SEMA6A,missense_variant,p.Pro26Thr,ENST00000515009,;SEMA6A,missense_variant,p.Pro26Thr,ENST00000509665,;SEMA6A-AS1,intron_variant,,ENST00000510682,;SEMA6A,upstream_gene_variant,,ENST00000503962,;	T	ENST00000257414	Transcript	missense_variant	325/4256	76/3144	26/1047	P/T	Cca/Aca		1		-1	SEMA6A	HGNC	HGNC:10738	protein_coding	YES	CCDS75288.1	ENSP00000257414		A0A0A0MQU6	UPI000018DB92	NM_001300780.1	deleterious(0)		2/20		PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF12																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	105	116504869	116504869	G	T	1	0	0	0	0	1	0	0	0	14315	1203	42	2		2	SEMA6A	5	116504869	Missense_Mutation	SNP	G	C3N-02586_TP	5110108	116504869	65033390	33	31822											
PCDHGA10	0	.	GRCh38	chr5	141414897	141414897	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccgccctccccacagaCggttccacaggcgtggagct	7	6	10	18	3	0	1	0	0	0	1	2	2	2	2	6	3	2	2	6	3	1	2	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.1722C>T	p.=	p.D574D	ENST00000398610	1/4	401	367	34	742	742	0	varscan-mutect	PCDHGA10,synonymous_variant,p.=,ENST00000398610,NM_018913.2;PCDHGA10,synonymous_variant,p.=,ENST00000612503,NM_032090.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.4;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2;PCDHGB6,intron_variant,,ENST00000520790,NM_018926.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2;PCDHGB5,intron_variant,,ENST00000617380,NM_018925.2;PCDHGB7,upstream_gene_variant,,ENST00000398594,NM_018927.3;PCDHGB6,downstream_gene_variant,,ENST00000616430,NM_032100.1;PCDHGB7,upstream_gene_variant,,ENST00000612073,NM_032101.2;PCDHGA3,intron_variant,,ENST00000612467,;	T	ENST00000398610	Transcript	synonymous_variant	1722/4617	1722/2811	574/936	D	gaC/gaT		1		1	PCDHGA10	HGNC	HGNC:8697	protein_coding	YES	CCDS47292.1	ENSP00000381611	Q9Y5H3		UPI00000726C3	NM_018913.2			1/4		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF110,Superfamily_domains:SSF49313																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	105	141414897	141414897	C	T	1	0	0	0	0	0	0	0	1	11638	535	19	1		1	PCDHGA10	5	141414897	Silent	SNP	C	C3N-02586_TP	24910028	141414897	40123362	34	31823											
HMGXB3	0	.	GRCh38	chr5	150047660	150047660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgaggctgctccaggaggGcacctgcaagcttgatgaga	9	7	16	9	0	0	3	0	3	0	1	1	5	1	4	2	4	3	5	2	4	1	1	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.2987G>T	p.Gly996Val	p.G996V	ENST00000502717	17/20	265	143	122	458	457	1	strelka-varscan-mutect	HMGXB3,missense_variant,p.Gly1242Val,ENST00000613459,;HMGXB3,missense_variant,p.Gly964Val,ENST00000503427,;HMGXB3,missense_variant,p.Gly996Val,ENST00000502717,NM_014983.2;HMGXB3,3_prime_UTR_variant,,ENST00000514469,;HMGXB3,non_coding_transcript_exon_variant,,ENST00000510472,;	T	ENST00000502717	Transcript	missense_variant	3451/4974	2987/3879	996/1292	G/V	gGc/gTc		1		1	HMGXB3	HGNC	HGNC:28982	protein_coding	YES	CCDS54935.1	ENSP00000421917	Q12766		UPI00001C1E29	NM_014983.2	deleterious(0.01)		17/20		hmmpanther:PTHR17609:SF2,hmmpanther:PTHR17609																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	105	150047660	150047660	G	T	1	0	0	0	0	1	0	0	0	7131	1203	42	2		2	HMGXB3	5	150047660	Missense_Mutation	SNP	G	C3N-02586_TP	8632763	150047660	31490599	35	31824											
EBF1	0	.	GRCh38	chr5	159095645	159095645	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcatggagtcaatgaggCgcacgtagaaatcctgctcc	10	10	11	10	2	2	2	2	1	0	1	4	3	4	3	2	2	1	3	2	2	3	2			C3N-02586_TP	C3N-02586_NB	C	C																c.386G>T	p.Arg129Leu	p.R129L	ENST00000313708	4/16	189	122	67	339	339	0	strelka-varscan	EBF1,missense_variant,p.Arg129Leu,ENST00000313708,NM_001324107.1,NM_024007.3,NM_001290360.1;EBF1,missense_variant,p.Arg129Leu,ENST00000380654,NM_182708.1;EBF1,missense_variant,p.Arg129Leu,ENST00000517373,;RP11-175K6.1,upstream_gene_variant,,ENST00000517335,;RP11-175K6.1,upstream_gene_variant,,ENST00000523301,;EBF1,non_coding_transcript_exon_variant,,ENST00000518836,;EBF1,non_coding_transcript_exon_variant,,ENST00000523315,;EBF1,non_coding_transcript_exon_variant,,ENST00000519739,;EBF1,non_coding_transcript_exon_variant,,ENST00000522192,;	A	ENST00000313708	Transcript	missense_variant	669/5250	386/1776	129/591	R/L	cGc/cTc	COSM160629	1		-1	EBF1	HGNC	HGNC:3126	protein_coding	YES	CCDS4343.1	ENSP00000322898	Q9UH73		UPI000000D95E	NM_001324107.1,NM_024007.3,NM_001290360.1	deleterious(0)		4/16		hmmpanther:PTHR10747,Pfam_domain:PF16422											1						MODERATE	1	SNV	1		1	1										PASS		.	.												A	3	1	105	159095645	159095645	C	A	1	0	0	0	0	1	0	0	0	4704	768	27	1		1	EBF1	5	159095645	Missense_Mutation	SNP	C	C3N-02586_TP	9047985	159095645	22442614	36	31825											
PRSS16	0	.	GRCh38	chr6	27247989	27247989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcagccctcccaaaagtgGggtggctggagcaactgctg	8	7	14	12	0	0	0	0	0	0	0	1	1	1	1	2	4	5	4	2	4	3	0	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.178G>C	p.Gly60Arg	p.G60R	ENST00000230582	2/12	138	75	63	266	266	0	strelka-varscan-mutect	PRSS16,missense_variant,p.Gly60Arg,ENST00000230582,NM_005865.3;PRSS16,missense_variant,p.Gly60Arg,ENST00000421826,;PRSS16,upstream_gene_variant,,ENST00000475106,;PRSS16,upstream_gene_variant,,ENST00000485993,;PRSS16,upstream_gene_variant,,ENST00000377456,;PRSS16,upstream_gene_variant,,ENST00000484493,;PRSS16,upstream_gene_variant,,ENST00000468138,;PRSS16,upstream_gene_variant,,ENST00000471463,;PRSS16,upstream_gene_variant,,ENST00000478690,;PRSS16,upstream_gene_variant,,ENST00000459736,;PRSS16,missense_variant,p.Gly60Arg,ENST00000454665,;PRSS16,missense_variant,p.Gly60Arg,ENST00000470870,;PRSS16,missense_variant,p.Gly60Arg,ENST00000468930,;PRSS16,missense_variant,p.Gly60Arg,ENST00000466364,;PRSS16,upstream_gene_variant,,ENST00000485603,;PRSS16,upstream_gene_variant,,ENST00000492575,;PRSS16,upstream_gene_variant,,ENST00000488649,;PRSS16,upstream_gene_variant,,ENST00000495683,;PRSS16,upstream_gene_variant,,ENST00000481125,;PRSS16,upstream_gene_variant,,ENST00000462664,;	C	ENST00000230582	Transcript	missense_variant	193/2716	178/1545	60/514	G/R	Ggg/Cgg		1		1	PRSS16	HGNC	HGNC:9480	protein_coding	YES	CCDS4623.1	ENSP00000230582	Q9NQE7		UPI0000137773	NM_005865.3	tolerated(0.06)		2/12		hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF22																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	105	27247989	27247989	G	C	1	0	0	0	0	1	0	0	0	12763	1232	43	4		4	PRSS16	6	27247989	Missense_Mutation	SNP	G	C3N-02586_TP		27247989	143557990	37	31826											
KIF6	0	.	GRCh38	chr6	39596143	39596143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcaactcgctctgaacCagccaggtcaaccagatgga	11	8	9	13	1	2	2	1	1	1	1	3	3	2	3	3	2	5	2	3	2	3	1	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.757G>T	p.Gly253Cys	p.G253C	ENST00000287152	7/23	395	208	187	785	785	0	strelka-varscan-mutect	KIF6,missense_variant,p.Gly253Cys,ENST00000287152,NM_145027.4,NM_001289021.1,NM_001289020.1;KIF6,missense_variant,p.Gly145Cys,ENST00000458470,;KIF6,missense_variant,p.Gly40Cys,ENST00000441975,;KIF6,5_prime_UTR_variant,,ENST00000538893,;	A	ENST00000287152	Transcript	missense_variant	852/9082	757/2445	253/814	G/C	Ggt/Tgt		1		-1	KIF6	HGNC	HGNC:21202	protein_coding	YES	CCDS4844.1	ENSP00000287152	Q6ZMV9		UPI0000457436	NM_145027.4,NM_001289021.1,NM_001289020.1	deleterious(0)		7/23		Gene3D:3.40.850.10,Pfam_domain:PF00225,Prints_domain:PR00380,PROSITE_patterns:PS00411,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF194,SMART_domains:SM00129,Superfamily_domains:SSF52540																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	105	39596143	39596143	C	A	1	0	0	0	0	1	0	0	0	8173	594	21	2		2	KIF6	6	39596143	Missense_Mutation	SNP	C	C3N-02586_TP	12348154	39596143	131209836	38	31827											
TTBK1	0	.	GRCh38	chr6	43254561	43254561	+	Missense_Mutation	SNP	G	G	T																															ccccagtcaaactttgccatGggcaggctgccctccaccta																								novel		C3N-02586_TP	C3N-02586_NB	G	G																c.486G>T	p.Met162Ile	p.M162I	ENST00000259750	6/15	40	24	16	91	91	0	strelka-varscan-mutect	TTBK1,missense_variant,p.Met162Ile,ENST00000259750,NM_032538.1;TTBK1,missense_variant,p.Met111Ile,ENST00000304139,;	T	ENST00000259750	Transcript	missense_variant	569/6932	486/3966	162/1321	M/I	atG/atT		1		1	TTBK1	HGNC	HGNC:19140	protein_coding	YES	CCDS34455.1	ENSP00000259750	Q5TCY1		UPI000041512B	NM_032538.1	tolerated(0.13)		6/15		PROSITE_profiles:PS50011,hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF130,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	105	43254561	43254561	G	T	1	0	0	0	0	1	0	0	0	17186	1348	47	2		2	TTBK1	6	43254561	Missense_Mutation	SNP	G	C3N-02586_TP	3658418	43254561	127551418	39	31828	650	2									
TTBK1	0	.	GRCh38	chr6	43254562	43254562	+	Missense_Mutation	SNP	G	G	T																															cccagtcaaactttgccatgGgcaggctgccctccacctac																								novel		C3N-02586_TP	C3N-02586_NB	G	G																c.487G>T	p.Gly163Cys	p.G163C	ENST00000259750	6/15	39	23	16	89	89	0	strelka-varscan-mutect	TTBK1,missense_variant,p.Gly163Cys,ENST00000259750,NM_032538.1;TTBK1,missense_variant,p.Gly112Cys,ENST00000304139,;	T	ENST00000259750	Transcript	missense_variant	570/6932	487/3966	163/1321	G/C	Ggc/Tgc		1		1	TTBK1	HGNC	HGNC:19140	protein_coding	YES	CCDS34455.1	ENSP00000259750	Q5TCY1		UPI000041512B	NM_032538.1	deleterious(0)		6/15		PROSITE_profiles:PS50011,hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF130,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	105	43254562	43254562	G	T	1	0	0	0	0	1	0	0	0	17186	1232	43	2		2	TTBK1	6	43254562	Missense_Mutation	SNP	G	C3N-02586_TP	1	43254562	127551417	40	31829	650	2									
TFAP2B	0	.	GRCh38	chr6	50843132	50843132	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatctactggcgcaggacCggacaccgatagggaacagc	11	4	14	12	4	1	0	0	0	1	0	1	5	1	4	2	5	3	1	2	5	3	2	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.1123C>A	p.=	p.R375R	ENST00000393655	7/7	403	190	213	604	604	0	strelka-varscan-mutect	TFAP2B,synonymous_variant,p.=,ENST00000393655,NM_003221.3;	A	ENST00000393655	Transcript	synonymous_variant	1292/5773	1123/1383	375/460	R	Cgg/Agg		1		1	TFAP2B	HGNC	HGNC:11743	protein_coding	YES	CCDS4934.2	ENSP00000377265	Q92481		UPI000020DE90	NM_003221.3			7/7		Pfam_domain:PF03299,hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF14																	LOW	1	SNV	1			1										PASS		rs1311113453	.												A	2	1	105	50843132	50843132	C	A	1	0	0	0	0	0	0	0	1	16221	643	23	1		1	TFAP2B	6	50843132	Silent	SNP	C	C3N-02586_TP	7588570	50843132	119962847	41	31830											
CNR1	0	.	GRCh38	chr6	88144686	88144686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcagtgaaggaggccgTgaccccacccagtttgaaca	11	5	14	11	1	0	3	0	3	0	0	0	5	0	5	4	4	1	2	4	4	2	1	novel		C3N-02586_TP	C3N-02586_NB	T	T																c.589A>G	p.Thr197Ala	p.T197A	ENST00000369501	2/2	230	208	22	490	489	1	strelka-varscan-mutect	CNR1,missense_variant,p.Thr197Ala,ENST00000369501,NM_016083.4,NM_001160226.1,NM_001160258.1,NM_001160259.1;CNR1,missense_variant,p.Thr197Ala,ENST00000369499,;CNR1,missense_variant,p.Thr197Ala,ENST00000549890,;CNR1,missense_variant,p.Thr197Ala,ENST00000428600,;CNR1,missense_variant,p.Thr164Ala,ENST00000468898,NM_033181.3;CNR1,3_prime_UTR_variant,,ENST00000362094,;CNR1,downstream_gene_variant,,ENST00000551417,;	C	ENST00000369501	Transcript	missense_variant	1209/6031	589/1419	197/472	T/A	Acg/Gcg		1		-1	CNR1	HGNC	HGNC:2159	protein_coding	YES	CCDS5015.1	ENSP00000358513	P21554	S5TLS4	UPI00000008AA	NM_016083.4,NM_001160226.1,NM_001160258.1,NM_001160259.1	deleterious(0.04)		2/2		PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF47,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,PIRSF_domain:PIRSF037995,SMART_domains:SM01381,Superfamily_domains:SSF81321,Prints_domain:PR00237,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	105	88144686	88144686	T	C	1	0	0	0	0	1	0	0	0	3413	1696	59	5		5	CNR1	6	88144686	Missense_Mutation	SNP	T	C3N-02586_TP	37301554	88144686	82661293	42	31831											
AKAP12	0	.	GRCh38	chr6	151350311	151350311	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctggacaaggtcaagagCgctaccttgtcttccaccga	10	8	11	12	2	2	1	1	0	1	1	3	4	3	2	3	2	3	2	3	2	3	3	rs186475520		C3N-02586_TP	C3N-02586_NB	C	C																c.1920C>A	p.Ser640Arg	p.S640R	ENST00000402676	4/5	256	132	124	338	337	1	strelka-varscan-mutect	AKAP12,missense_variant,p.Ser640Arg,ENST00000402676,NM_005100.3;AKAP12,missense_variant,p.Ser640Arg,ENST00000253332,;AKAP12,missense_variant,p.Ser542Arg,ENST00000354675,NM_144497.2;AKAP12,missense_variant,p.Ser535Arg,ENST00000359755,;AKAP12,downstream_gene_variant,,ENST00000490177,;	A	ENST00000402676	Transcript	missense_variant	2160/8432	1920/5349	640/1782	S/R	agC/agA	rs186475520	1		1	AKAP12	HGNC	HGNC:370	protein_coding	YES	CCDS5229.1	ENSP00000384537	Q02952		UPI000013CDC7	NM_005100.3	deleterious(0)		4/5		Low_complexity_(Seg):seg,hmmpanther:PTHR23209																	MODERATE	1	SNV	5			1										PASS		rs186475520	.												A	3	1	105	151350311	151350311	C	A	1	0	0	0	0	1	0	0	0	531	767	27	1		1	AKAP12	6	151350311	Missense_Mutation	SNP	C	C3N-02586_TP	63205625	151350311	19455668	43	31832											
SYNE1	0	.	GRCh38	chr6	152206214	152206214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgttcttccagccgcatgCtggctgatttccatttctct	4	17	7	13	1	3	1	0	1	3	0	6	1	5	1	3	1	2	4	3	1	0	4	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.22973G>T	p.Ser7658Ile	p.S7658I	ENST00000367255	126/146	299	148	151	629	628	1	strelka-varscan-mutect	SYNE1,missense_variant,p.Ser7658Ile,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Ser7587Ile,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Ser7253Ile,ENST00000341594,;SYNE1,missense_variant,p.Ser580Ile,ENST00000367251,;SYNE1,missense_variant,p.Ser304Ile,ENST00000367257,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;	A	ENST00000367255	Transcript	missense_variant	23575/27748	22973/26394	7658/8797	S/I	aGc/aTc		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			126/146		Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150,Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	105	152206214	152206214	C	A	1	0	0	0	0	1	0	0	0	15837	797	28	2		2	SYNE1	6	152206214	Missense_Mutation	SNP	C	C3N-02586_TP	855903	152206214	18599765	44	31833											
ITGB8	0	.	GRCh38	chr7	20394896	20394896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctactgatatgttttatagGatcttctacccctcttgcca	8	16	6	11	0	3	1	0	1	3	0	3	2	3	2	3	1	3	2	3	1	5	8			C3N-02586_TP	C3N-02586_NB	G	G																c.1057G>T	p.Asp353Tyr	p.D353Y	ENST00000222573	8/14	237	163	74	255	255	0	strelka-varscan-mutect	ITGB8,missense_variant,p.Asp353Tyr,ENST00000222573,NM_002214.2;ITGB8,missense_variant,p.Asp218Tyr,ENST00000537992,;ITGB8,splice_region_variant,,ENST00000478974,;	T	ENST00000222573	Transcript	missense_variant,splice_region_variant	1741/8751	1057/2310	353/769	D/Y	Gat/Tat	COSM3637168,COSM3637169	1		1	ITGB8	HGNC	HGNC:6163	protein_coding	YES	CCDS5370.1	ENSP00000222573	P26012		UPI000012DA14	NM_002214.2	deleterious(0)		8/14		hmmpanther:PTHR10082:SF9,hmmpanther:PTHR10082,Gene3D:3.40.50.410,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Superfamily_domains:SSF53300											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	105	20394896	20394896	G	T	1	0	0	0	0	1	0	0	0	7807	1188	41	2		2	ITGB8	7	20394896	Missense_Mutation	SNP	G	C3N-02586_TP		20394896	138951077	45	31834											
GLI3	0	.	GRCh38	chr7	42048647	42048647	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttccggtgtggggagatccTaatgaagggcaggtccggat	8	9	17	7	2	0	2	0	1	0	1	3	4	3	3	3	6	0	2	3	6	2	2	novel		C3N-02586_TP	C3N-02586_NB	T	T																c.523A>T	p.Arg175Trp	p.R175W	ENST00000395925	5/15	622	465	157	556	556	0	strelka-varscan-mutect	GLI3,missense_variant,p.Arg175Trp,ENST00000395925,NM_000168.5;GLI3,missense_variant,p.Arg175Trp,ENST00000448703,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;	A	ENST00000395925	Transcript	missense_variant	608/8208	523/4743	175/1580	R/W	Agg/Tgg		1		-1	GLI3	HGNC	HGNC:4319	protein_coding	YES	CCDS5465.1	ENSP00000379258	P10071		UPI000020EE4C	NM_000168.5	deleterious(0)		5/15		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF5																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	105	42048647	42048647	T	A	1	0	0	0	0	1	0	0	0	6317	1521	53	4		4	GLI3	7	42048647	Missense_Mutation	SNP	T	C3N-02586_TP	21653751	42048647	117297326	46	31835											
TYW1B	0	.	GRCh38	chr7	72815470	72815470	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaactgcttcagcaagaacTgttgcaaatccctaatagga	14	10	8	9	0	1	1	1	0	0	1	2	2	2	2	1	1	5	5	1	1	6	5	novel		C3N-02586_TP	C3N-02586_NB	T	T																c.147A>G	p.=	p.T49T	ENST00000620995	3/14	174	89	85	361	361	0	strelka-varscan-mutect	TYW1B,synonymous_variant,p.=,ENST00000620995,NM_001145440.2;TYW1B,synonymous_variant,p.=,ENST00000612372,;TYW1B,synonymous_variant,p.=,ENST00000610600,;	C	ENST00000620995	Transcript	synonymous_variant	270/3113	147/2007	49/668	T	acA/acG		1		-1	TYW1B	HGNC	HGNC:33908	protein_coding	YES	CCDS69309.1	ENSP00000482502		A0A087WZB2	UPI000178DF1B	NM_001145440.2			3/14		Gene3D:3.40.50.360,Pfam_domain:PF00258,PROSITE_profiles:PS50902,hmmpanther:PTHR13930,Superfamily_domains:SSF52218																	LOW	1	SNV	1			1										PASS		.	.												C	2	2	105	72815470	72815470	T	C	1	0	0	0	0	0	0	0	1	17334	1567	55	5		5	TYW1B	7	72815470	Silent	SNP	T	C3N-02586_TP	30766823	72815470	86530503	47	31836											
CACNA2D1	0	.	GRCh38	chr7	81961947	81961947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aatgatttactgtcgttatcGaagaaatactgggtttgttc	11	16	9	5	2	0	2	0	1	0	1	3	3	0	2	0	1	2	3	0	1	6	6	rs761648569		C3N-02586_TP	C3N-02586_NB	G	G																c.2913C>G	p.Phe971Leu	p.F971L	ENST00000356860	36/39	141	89	52	384	384	0	strelka-varscan-mutect	CACNA2D1,missense_variant,p.Phe971Leu,ENST00000356860,NM_000722.3;CACNA2D1,missense_variant,p.Phe983Leu,ENST00000356253,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000469297,;	C	ENST00000356860	Transcript	missense_variant	3252/7563	2913/3276	971/1091	F/L	ttC/ttG	rs761648569,COSM299100,COSM3698554	1		-1	CACNA2D1	HGNC	HGNC:1399	protein_coding	YES	CCDS5598.1	ENSP00000349320	P54289		UPI00003674CD	NM_000722.3	deleterious(0.03)		36/39		Pfam_domain:PF08473,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6											0,1,1						MODERATE	1	SNV	1		0,1,1	1										PASS		rs761648569	.												C	3	2	105	81961947	81961947	G	C	1	0	0	0	0	1	0	0	0	2236	1049	37	4		4	CACNA2D1	7	81961947	Missense_Mutation	SNP	G	C3N-02586_TP	9146477	81961947	77384026	48	31837											
RELN	0	.	GRCh38	chr7	103630059	103630059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgaaaagcacagatgtCatgataatctcatcaatagc	15	11	7	8	0	3	3	3	2	1	1	4	3	3	3	0	0	2	2	0	0	5	3	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.2583G>T	p.Met861Ile	p.M861I	ENST00000428762	20/65	319	175	144	702	701	1	strelka-varscan-mutect	RELN,missense_variant,p.Met861Ile,ENST00000424685,;RELN,missense_variant,p.Met861Ile,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Met861Ile,ENST00000343529,NM_173054.2;RELN,non_coding_transcript_exon_variant,,ENST00000473457,;	A	ENST00000428762	Transcript	missense_variant	2743/11571	2583/10383	861/3460	M/I	atG/atT		1		-1	RELN	HGNC	HGNC:9957	protein_coding	YES	CCDS47680.1	ENSP00000392423	P78509		UPI00001678BC	NM_005045.3	tolerated(0.83)		20/65		hmmpanther:PTHR11841																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	105	103630059	103630059	C	A	1	0	0	0	0	1	0	0	0	13390	826	29	2		2	RELN	7	103630059	Missense_Mutation	SNP	C	C3N-02586_TP	21668112	103630059	55715914	49	31838											
KCP	0	.	GRCh38	chr7	128881718	128881718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggatgcagagccatGtcaggtcctgcccatgtgaa	8	9	13	11	0	1	2	1	1	0	1	2	3	2	3	4	3	3	1	4	3	1	0	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.3332C>T	p.Thr1111Ile	p.T1111I	ENST00000610776	31/40	116	65	51	243	243	0	strelka-varscan-mutect	KCP,missense_variant,p.Thr1111Ile,ENST00000610776,;KCP,missense_variant,p.Thr1115Ile,ENST00000613019,;KCP,missense_variant,p.Thr1051Ile,ENST00000620378,NM_001135914.1;KCP,missense_variant,p.Thr1115Ile,ENST00000611280,;KCP,upstream_gene_variant,,ENST00000492679,;KCP,upstream_gene_variant,,ENST00000460528,;	A	ENST00000610776	Transcript	missense_variant	3375/5108	3332/4887	1111/1628	T/I	aCa/aTa		1		-1	KCP	HGNC	HGNC:17585	protein_coding	YES		ENSP00000479679		A0A087WVT8	UPI0004620CE8		deleterious(0)		31/40		PROSITE_profiles:PS50184,PROSITE_patterns:PS01208,SMART_domains:SM00214,Superfamily_domains:SSF57603																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	105	128881718	128881718	G	A	1	0	0	0	0	1	0	0	0	8012	1377	48	3		3	KCP	7	128881718	Missense_Mutation	SNP	G	C3N-02586_TP	25251659	128881718	30464255	50	31839											
SSPO	0	.	GRCh38	chr7	149791693	149791693	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcaggcctgcttcacGgcagcctgcccaggtgaggg	6	7	14	14	1	2	1	2	1	1	0	3	1	2	1	3	4	3	2	3	4	0	1	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.5235G>T	p.=	p.T1745T	ENST00000378016	33/107	27	14	13	50	50	0	strelka-varscan-mutect	SSPO,synonymous_variant,p.=,ENST00000378016,NM_198455.2;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,;SSPO,non_coding_transcript_exon_variant,,ENST00000475488,;	T	ENST00000378016	Transcript	synonymous_variant	5235/15589	5235/15453	1745/5150	T	acG/acT		1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2			33/107		Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,PROSITE_profiles:PS50092,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF294																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	105	149791693	149791693	G	T	1	0	0	0	0	0	0	0	1	15566	1103	39	1		1	SSPO	7	149791693	Silent	SNP	G	C3N-02586_TP	20909975	149791693	9554280	51	31840											
CSMD1	0	.	GRCh38	chr8	2938714	2938714	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgttttcatgcccagcAtagccattgtattgaacttt	8	17	7	9	0	1	1	1	1	0	0	1	1	1	1	2	0	5	4	2	0	3	8	novel		C3N-02586_TP	C3N-02586_NB	A	A																c.10569T>C	p.=	p.Y3523Y	ENST00000520002	71/71	188	88	100	313	313	0	strelka-varscan-mutect	CSMD1,synonymous_variant,p.=,ENST00000537824,;CSMD1,synonymous_variant,p.=,ENST00000335551,;CSMD1,synonymous_variant,p.=,ENST00000520002,;CSMD1,synonymous_variant,p.=,ENST00000602557,;CSMD1,synonymous_variant,p.=,ENST00000635120,NM_033225.5;CSMD1,synonymous_variant,p.=,ENST00000400186,;CSMD1,synonymous_variant,p.=,ENST00000602723,;	G	ENST00000520002	Transcript	synonymous_variant	11125/11740	10569/10698	3523/3565	Y	taT/taC		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB				71/71		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350																	LOW	1	SNV	5			1										PASS		.	.												G	2	3	105	2938714	2938714	A	G	1	0	0	0	0	0	0	0	1	3745	224	8	5		5	CSMD1	8	2938714	Silent	SNP	A	C3N-02586_TP		2938714	142199922	52	31841											
CSMD1	0	.	GRCh38	chr8	2998113	2998113	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcaggtgaaattcacgaCatcattcaggttgaactcac	12	11	9	9	1	4	2	4	2	0	0	4	3	4	2	0	2	2	3	0	2	2	4	rs757594371		C3N-02586_TP	C3N-02586_NB	C	C																c.8278G>T	p.Val2760Phe	p.V2760F	ENST00000520002	55/71	237	154	83	464	464	0	strelka-varscan-mutect	CSMD1,missense_variant,p.Val2621Phe,ENST00000537824,;CSMD1,missense_variant,p.Val2177Phe,ENST00000335551,;CSMD1,missense_variant,p.Val2760Phe,ENST00000520002,;CSMD1,missense_variant,p.Val2760Phe,ENST00000602557,;CSMD1,missense_variant,p.Val2759Phe,ENST00000635120,NM_033225.5;CSMD1,missense_variant,p.Val2702Phe,ENST00000400186,;CSMD1,missense_variant,p.Val2702Phe,ENST00000602723,;CSMD1,downstream_gene_variant,,ENST00000519623,;	A	ENST00000520002	Transcript	missense_variant	8834/11740	8278/10698	2760/3565	V/F	Gtc/Ttc	rs757594371	1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB		deleterious(0)		55/71		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF350,SMART_domains:SM00032,Superfamily_domains:SSF57535																	MODERATE	1	SNV	5			1										PASS		rs757594371	.												A	3	1	105	2998113	2998113	C	A	1	0	0	0	0	1	0	0	0	3745	478	17	2		2	CSMD1	8	2998113	Missense_Mutation	SNP	C	C3N-02586_TP	59399	2998113	142140523	53	31842											
TNFRSF10B	0	.	GRCh38	chr8	23030776	23030776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctgaatcacacctggtgCagcgcaagcagaaaaggagg	14	5	12	10	1	1	2	1	1	0	1	1	3	1	3	2	3	4	3	2	3	5	1	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.347G>A	p.Cys116Tyr	p.C116Y	ENST00000276431	3/9	455	254	201	840	840	0	strelka-varscan-mutect	TNFRSF10B,missense_variant,p.Cys116Tyr,ENST00000276431,NM_003842.4;TNFRSF10B,missense_variant,p.Cys116Tyr,ENST00000347739,NM_147187.2;TNFRSF10B,non_coding_transcript_exon_variant,,ENST00000519910,;TNFRSF10B,missense_variant,p.Ala81Thr,ENST00000523504,;TNFRSF10B,non_coding_transcript_exon_variant,,ENST00000518531,;TNFRSF10B,upstream_gene_variant,,ENST00000523752,;TNFRSF10B,upstream_gene_variant,,ENST00000520109,;	T	ENST00000276431	Transcript	missense_variant	632/4146	347/1323	116/440	C/Y	tGc/tAc		1		-1	TNFRSF10B	HGNC	HGNC:11905	protein_coding	YES	CCDS6035.1	ENSP00000276431	O14763		UPI000013DAC6	NM_003842.4	deleterious(0)		3/9		PROSITE_profiles:PS50050,hmmpanther:PTHR23097:SF88,hmmpanther:PTHR23097,PROSITE_patterns:PS00652,Pfam_domain:PF00020,PIRSF_domain:PIRSF037867,Gene3D:2.10.50.10,SMART_domains:SM00208,Superfamily_domains:SSF57586																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	105	23030776	23030776	C	T	1	0	0	0	0	1	0	0	0	16755	710	25	3		3	TNFRSF10B	8	23030776	Missense_Mutation	SNP	C	C3N-02586_TP	20032663	23030776	122107860	54	31843											
IDO2	0	.	GRCh38	chr8	39987964	39987964	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaaagaagcagtgcctggGataaaggtatcttctcactt	13	10	11	7	0	2	2	1	0	2	2	3	4	2	3	1	2	2	2	1	2	5	4	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.582G>T	p.=	p.G194G	ENST00000502986	7/11	107	56	51	195	195	0	strelka-varscan-mutect	IDO2,synonymous_variant,p.=,ENST00000502986,NM_194294.2;IDO2,synonymous_variant,p.=,ENST00000389060,;RP11-44K6.3,intron_variant,,ENST00000517623,;IDO2,non_coding_transcript_exon_variant,,ENST00000343295,;IDO2,non_coding_transcript_exon_variant,,ENST00000418094,;	T	ENST00000502986	Transcript	synonymous_variant	824/2294	582/1263	194/420	G	ggG/ggT		1		1	IDO2	HGNC	HGNC:27269	protein_coding	YES		ENSP00000443432	Q6ZQW0		UPI000152B4F4	NM_194294.2			7/11		hmmpanther:PTHR28657,hmmpanther:PTHR28657:SF4,Pfam_domain:PF01231,Superfamily_domains:SSF140959																	LOW		SNV	5			1										PASS		.	.												T	2	4	105	39987964	39987964	G	T	1	0	0	0	0	0	0	0	1	7403	1161	41	2		2	IDO2	8	39987964	Silent	SNP	G	C3N-02586_TP	16957188	39987964	105150672	55	31844											
HNF4G	0	.	GRCh38	chr8	75551446	75551446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcacatttgatggcagcaaCatcccctccattaacacact	13	9	5	14	0	0	1	0	1	0	0	2	1	2	1	3	1	4	3	3	1	2	2	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.411C>A	p.Asn137Lys	p.N137K	ENST00000396423	4/10	345	257	88	497	497	0	strelka-varscan-mutect	HNF4G,missense_variant,p.Asn137Lys,ENST00000396423,NM_004133.4;HNF4G,missense_variant,p.Asn100Lys,ENST00000354370,;HNF4G,non_coding_transcript_exon_variant,,ENST00000396419,;	A	ENST00000396423	Transcript	missense_variant	535/4209	411/1338	137/445	N/K	aaC/aaA		1		1	HNF4G	HGNC	HGNC:5026	protein_coding	YES	CCDS6220.2	ENSP00000379701	Q14541	F1D8Q4	UPI0000D47E07	NM_004133.4	tolerated(0.12)		4/10		hmmpanther:PTHR24083:SF42,hmmpanther:PTHR24083,Gene3D:1.10.565.10,Superfamily_domains:SSF48508																	MODERATE	1	SNV	1			1										PASS		rs1182646505	.												A	3	1	105	75551446	75551446	C	A	1	0	0	0	0	1	0	0	0	7145	477	17	2		2	HNF4G	8	75551446	Missense_Mutation	SNP	C	C3N-02586_TP	35563482	75551446	69587190	56	31845											
RIMS2	0	.	GRCh38	chr8	103961065	103961065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctattgtttactttatagGgtcaaagagaataagtgata	14	15	9	3	0	1	2	1	1	0	1	1	3	1	2	0	1	2	2	0	1	8	9	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.2702G>A	p.Arg901Lys	p.R901K	ENST00000504942	15/24	163	125	38	401	401	0	strelka-varscan-mutect	RIMS2,missense_variant,p.Arg693Lys,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Arg679Lys,ENST00000436393,;RIMS2,missense_variant,p.Arg901Lys,ENST00000504942,NM_001100117.2;RIMS2,missense_variant,p.Arg843Lys,ENST00000626043,;RIMS2,missense_variant,p.Arg693Lys,ENST00000408894,;RIMS2,missense_variant,p.Arg740Lys,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Arg889Lys,ENST00000632716,;RIMS2,missense_variant,p.Arg295Lys,ENST00000507677,;	A	ENST00000504942	Transcript	missense_variant,splice_region_variant	2841/4228	2702/4050	901/1349	R/K	aGg/aAg		1		1	RIMS2	HGNC	HGNC:17283	protein_coding	YES	CCDS55269.1	ENSP00000427018	Q9UQ26		UPI0001597063	NM_001100117.2	deleterious_low_confidence(0)		15/24		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF15																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	105	103961065	103961065	G	A	1	0	0	0	0	1	0	0	0	13543	1246	43	3		3	RIMS2	8	103961065	Missense_Mutation	SNP	G	C3N-02586_TP	28409619	103961065	41177571	57	31846											
PKHD1L1	0	.	GRCh38	chr8	109400115	109400115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtgtggaataatagccGtccaatacgtttggaagaga	13	10	13	5	2	0	2	0	1	0	1	1	5	1	4	2	3	2	1	2	3	6	4	rs200182716		C3N-02586_TP	C3N-02586_NB	G	G																c.1052G>A	p.Arg351His	p.R351H	ENST00000378402	13/78	239	171	68	282	282	0	strelka-varscan-mutect	PKHD1L1,missense_variant,p.Arg351His,ENST00000378402,NM_177531.4;	A	ENST00000378402	Transcript	missense_variant	1156/13076	1052/12732	351/4243	R/H	cGt/cAt	rs200182716	1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	deleterious(0.02)		13/78		Gene3D:1accA01,SMART_domains:SM00429,SMART_domains:SM00758																	MODERATE	1	SNV	1			1										PASS		rs200182716	.												A	3	1	105	109400115	109400115	G	A	1	0	0	0	0	1	0	0	0	12068	1145	40	1		1	PKHD1L1	8	109400115	Missense_Mutation	SNP	G	C3N-02586_TP	5439050	109400115	35738521	58	31847											
PKHD1L1	0	.	GRCh38	chr8	109445186	109445186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttattgaaggagaaggtttgGggactgttttggaggacatt	10	14	15	2	0	0	2	0	1	0	1	0	6	0	5	0	6	0	2	0	6	3	6	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.5317G>T	p.Gly1773Trp	p.G1773W	ENST00000378402	38/78	255	171	84	389	389	0	strelka-varscan-mutect	PKHD1L1,missense_variant,p.Gly1773Trp,ENST00000378402,NM_177531.4;	T	ENST00000378402	Transcript	missense_variant	5421/13076	5317/12732	1773/4243	G/W	Ggg/Tgg		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	deleterious(0)		38/78		Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	105	109445186	109445186	G	T	1	0	0	0	0	1	0	0	0	12068	1232	43	2		2	PKHD1L1	8	109445186	Missense_Mutation	SNP	G	C3N-02586_TP	45071	109445186	35693450	59	31848											
TRPS1	0	.	GRCh38	chr8	115414391	115414391	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatctagaggaatgtcatTgtctgatccaacagctgaaa	15	10	8	8	0	3	3	1	2	2	1	4	4	4	4	1	1	2	1	1	1	5	2	novel		C3N-02586_TP	C3N-02586_NB	T	T																c.3517A>T	p.Asn1173Tyr	p.N1173Y	ENST00000395715	7/7	490	329	161	608	608	0	strelka-varscan-mutect	TRPS1,missense_variant,p.Asn1173Tyr,ENST00000395715,NM_014112.4,NM_001282903.2;TRPS1,missense_variant,p.Asn1160Tyr,ENST00000220888,;TRPS1,missense_variant,p.Asn1164Tyr,ENST00000520276,NM_001282902.2;TRPS1,missense_variant,p.Asn914Tyr,ENST00000519076,;TRPS1,downstream_gene_variant,,ENST00000518018,;	A	ENST00000395715	Transcript	missense_variant	4095/9990	3517/3885	1173/1294	N/Y	Aat/Tat		1		-1	TRPS1	HGNC	HGNC:12340	protein_coding	YES	CCDS6318.2	ENSP00000379065	Q9UHF7		UPI00002104B8	NM_014112.4,NM_001282903.2	deleterious_low_confidence(0)		7/7		hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF176																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	105	115414391	115414391	T	A	1	0	0	0	0	1	0	0	0	17099	1812	63	4		4	TRPS1	8	115414391	Missense_Mutation	SNP	T	C3N-02586_TP	5969205	115414391	29724245	60	31849											
MROH6	0	.	GRCh38	chr8	143568153	143568154	+	Frame_Shift_Del	DEL	AG	AG	-																															cctactgaccaggcggcagcAgaggtggctcagggcctcgg																								novel		C3N-02586_TP	C3N-02586_NB	AG	AG																c.1752_1753delCT	p.Cys585LeufsTer154	p.C585Lfs*154	ENST00000398882	11/14	180	102	78	204	204	0	sindel-varindel	MROH6,frameshift_variant,p.Cys585LeufsTer154,ENST00000398882,NM_001100878.1;MROH6,5_prime_UTR_variant,,ENST00000524906,;MROH6,5_prime_UTR_variant,,ENST00000534459,;MROH6,intron_variant,,ENST00000533679,;MROH6,intron_variant,,ENST00000532862,;MROH6,downstream_gene_variant,,ENST00000529971,;MROH6,non_coding_transcript_exon_variant,,ENST00000533582,;MROH6,upstream_gene_variant,,ENST00000532704,;MROH6,non_coding_transcript_exon_variant,,ENST00000533210,;MROH6,intron_variant,,ENST00000533083,;MROH6,upstream_gene_variant,,ENST00000533120,;	-	ENST00000398882	Transcript	frameshift_variant	2009-2010/3469	1752-1753/2160	584-585/719	LC/LX	ctCTgc/ctgc		1		-1	MROH6	HGNC	HGNC:27814	protein_coding	YES	CCDS47928.1	ENSP00000381857	A6NGR9		UPI0000DD7EFB	NM_001100878.1			11/14		hmmpanther:PTHR23120:SF7,hmmpanther:PTHR23120,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	HIGH	1	deletion	5			1										PASS		.	.												-	7	5	105	143568153	143568153	AG	-	1	0	1	0	1	0	0	0	0	9746	188	7	0		0	MROH6	8	143568153	Frame_Shift_Del	DEL	AG	C3N-02586_TP	28153762	143568153	1570483	61	31850	651	2									
MROH6	0	.	GRCh38	chr8	143568157	143568157	+	Missense_Mutation	SNP	G	G	T																															ctgaccaggcggcagcagagGtggctcagggcctcggggct																								novel		C3N-02586_TP	C3N-02586_NB	G	G																c.1749C>A	p.His583Gln	p.H583Q	ENST00000398882	11/14	219	127	92	220	220	0	strelka-varscan-mutect	MROH6,missense_variant,p.His583Gln,ENST00000398882,NM_001100878.1;MROH6,5_prime_UTR_variant,,ENST00000524906,;MROH6,5_prime_UTR_variant,,ENST00000534459,;MROH6,intron_variant,,ENST00000533679,;MROH6,intron_variant,,ENST00000532862,;MROH6,downstream_gene_variant,,ENST00000529971,;MROH6,non_coding_transcript_exon_variant,,ENST00000533582,;MROH6,upstream_gene_variant,,ENST00000532704,;MROH6,non_coding_transcript_exon_variant,,ENST00000533210,;MROH6,intron_variant,,ENST00000533083,;MROH6,upstream_gene_variant,,ENST00000533120,;	T	ENST00000398882	Transcript	missense_variant	2006/3469	1749/2160	583/719	H/Q	caC/caA		1		-1	MROH6	HGNC	HGNC:27814	protein_coding	YES	CCDS47928.1	ENSP00000381857	A6NGR9		UPI0000DD7EFB	NM_001100878.1	tolerated(0.07)		11/14		hmmpanther:PTHR23120:SF7,hmmpanther:PTHR23120,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	105	143568157	143568157	G	T	1	0	0	0	0	1	0	0	0	9746	1252	44	2		2	MROH6	8	143568157	Missense_Mutation	SNP	G	C3N-02586_TP	4	143568157	1570479	62	31851	651	2									
SMARCA2	0	.	GRCh38	chr9	2084086	2084086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttttttctttccattcagGgtactcctgccatgcgtcgc	5	17	7	12	2	2	0	1	0	1	0	5	0	4	0	3	1	3	1	3	1	1	6	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.2416G>T	p.Gly806Cys	p.G806C	ENST00000382203	17/34	135	103	32	219	219	0	strelka-varscan-mutect	SMARCA2,missense_variant,p.Gly806Cys,ENST00000382203,NM_001289396.1;SMARCA2,missense_variant,p.Gly806Cys,ENST00000357248,NM_139045.3;SMARCA2,missense_variant,p.Gly806Cys,ENST00000349721,NM_003070.4;SMARCA2,missense_variant,p.Gly806Cys,ENST00000382194,;SMARCA2,missense_variant,p.Gly806Cys,ENST00000450198,NM_001289397.1;SMARCA2,missense_variant,p.Gly143Cys,ENST00000635185,;SMARCA2,splice_region_variant,,ENST00000635739,;SMARCA2,upstream_gene_variant,,ENST00000636157,;SMARCA2,upstream_gene_variant,,ENST00000634925,;SMARCA2,upstream_gene_variant,,ENST00000636969,;SMARCA2,missense_variant,p.Gly806Cys,ENST00000634760,;SMARCA2,downstream_gene_variant,,ENST00000635129,;	T	ENST00000382203	Transcript	missense_variant,splice_region_variant	2625/5867	2416/4773	806/1590	G/C	Ggt/Tgt		1		1	SMARCA2	HGNC	HGNC:11098	protein_coding	YES	CCDS34977.1	ENSP00000371638	P51531		UPI00001AE8EB	NM_001289396.1	deleterious(0)		17/34		Gene3D:3.40.50.300,Pfam_domain:PF00176,PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF541,SMART_domains:SM00487,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	105	2084086	2084086	G	T	1	0	0	0	0	1	0	0	0	15062	1246	43	2		2	SMARCA2	9	2084086	Missense_Mutation	SNP	G	C3N-02586_TP		2084086	136310631	63	31852											
HRCT1	0	.	GRCh38	chr9	35906356	35906356	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgtggcggtcctgctGctgctgctgctgctggccac	1	11	15	14	1	0	0	0	0	0	0	1	0	1	0	2	3	7	8	2	3	0	0	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.69G>C	p.=	p.L23L	ENST00000354323	1/1	43	37	6	99	98	1	varscan-mutect	HRCT1,synonymous_variant,p.=,ENST00000354323,NM_001039792.1;LINC00961,upstream_gene_variant,,ENST00000443779,;LINC00961,upstream_gene_variant,,ENST00000636776,;LINC00961,upstream_gene_variant,,ENST00000638062,;	C	ENST00000354323	Transcript	synonymous_variant	165/950	69/348	23/115	L	ctG/ctC		1		1	HRCT1	HGNC	HGNC:33872	protein_coding	YES	CCDS35012.1	ENSP00000346283	Q6UXD1		UPI0000048EC9	NM_001039792.1			1/1		hmmpanther:PTHR23009,hmmpanther:PTHR23009:SF2,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix																	LOW		SNV				1										PASS		rs1475836520	.												C	2	2	105	35906356	35906356	G	C	1	0	0	0	0	0	0	0	1	7248	1306	46	4		4	HRCT1	9	35906356	Silent	SNP	G	C3N-02586_TP	33822270	35906356	102488361	64	31853											
FOXB2	0	.	GRCh38	chr9	77020921	77020921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcggccgaaagcaagggcGgctccttgcactcggtgcta	7	7	13	14	4	0	0	0	0	0	0	3	1	1	0	3	4	3	4	3	4	3	2	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.1267G>T	p.Gly423Cys	p.G423C	ENST00000376708	1/1	152	85	67	276	276	0	strelka-varscan-mutect	FOXB2,missense_variant,p.Gly423Cys,ENST00000376708,NM_001013735.1;	T	ENST00000376708	Transcript	missense_variant	1267/1299	1267/1299	423/432	G/C	Ggc/Tgc		1		1	FOXB2	HGNC	HGNC:23315	protein_coding	YES	CCDS35045.1	ENSP00000365898	Q5VYV0		UPI00004588EE	NM_001013735.1	deleterious_low_confidence(0)		1/1																			MODERATE	1	SNV				1										PASS		rs1411715116	.												T	3	4	105	77020921	77020921	G	T	1	0	0	0	0	1	0	0	0	5853	1116	39	1		1	FOXB2	9	77020921	Missense_Mutation	SNP	G	C3N-02586_TP	41114565	77020921	61373796	65	31854											
SVEP1	0	.	GRCh38	chr9	110472219	110472219	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcacttcttttaatccGtgaggacttggcattgccga	7	13	12	9	2	1	1	0	1	1	0	2	3	2	2	2	4	1	2	2	4	1	5	rs763911828		C3N-02586_TP	C3N-02586_NB	G	G																c.2704C>A	p.=	p.R902R	ENST00000374469	15/48	207	124	83	341	341	0	strelka-varscan-mutect	SVEP1,synonymous_variant,p.=,ENST00000401783,;SVEP1,synonymous_variant,p.=,ENST00000374469,NM_153366.3;SVEP1,downstream_gene_variant,,ENST00000374461,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;	T	ENST00000374469	Transcript	synonymous_variant	2899/12194	2704/10716	902/3571	R	Cgg/Agg	rs763911828,COSM1103938,COSM5233972,COSM606851	1		-1	SVEP1	HGNC	HGNC:15985	protein_coding	YES	CCDS48004.1	ENSP00000363593	Q4LDE5		UPI000153DA74	NM_153366.3			15/48													0,1,1,1						LOW	1	SNV	5		0,1,1,1	1										PASS		rs763911828	.												T	2	4	105	110472219	110472219	G	T	1	0	0	0	0	0	0	0	1	15805	1144	40	1		1	SVEP1	9	110472219	Silent	SNP	G	C3N-02586_TP	33451298	110472219	27922498	66	31855											
HMCN2	0	.	GRCh38	chr9	130396304	130396304	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtccccctggatcccaGgagccccaggtgggagaggg	7	4	17	13	0	0	1	0	0	0	1	2	4	2	3	5	6	1	0	5	6	0	0	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.11186G>C	p.Arg3729Thr	p.R3729T	ENST00000624552	73/98	42	22	20	84	84	0	strelka-varscan-mutect	HMCN2,missense_variant,p.Arg3729Thr,ENST00000624552,NM_001291815.1;RN7SL665P,upstream_gene_variant,,ENST00000578793,;HMCN2,3_prime_UTR_variant,,ENST00000487727,;HMCN2,upstream_gene_variant,,ENST00000480829,;	C	ENST00000624552	Transcript	missense_variant	11186/15610	11186/15180	3729/5059	R/T	aGg/aCg		1		1	HMCN2	HGNC	HGNC:21293	protein_coding	YES		ENSP00000485357	Q8NDA2		UPI0004F23675	NM_001291815.1	tolerated(0.11)		73/98		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	105	130396304	130396304	G	C	1	0	0	0	0	1	0	0	0	7112	1000	35	4		4	HMCN2	9	130396304	Missense_Mutation	SNP	G	C3N-02586_TP	19924085	130396304	7998413	67	31856											
MLLT10	0	.	GRCh38	chr10	21670602	21670602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagagggtcagagggcaaaGggaagaaatcttcagctcac	14	6	13	8	0	4	3	3	0	1	3	4	4	4	4	0	3	1	2	0	3	4	2	rs780160506		C3N-02586_TP	C3N-02586_NB	G	G																c.949G>T	p.Gly317Trp	p.G317W	ENST00000307729	10/23	342	158	184	680	680	0	strelka-varscan-mutect	MLLT10,missense_variant,p.Gly317Trp,ENST00000377072,NM_004641.3;MLLT10,missense_variant,p.Gly317Trp,ENST00000307729,;MLLT10,missense_variant,p.Gly317Trp,ENST00000631589,;MLLT10,missense_variant,p.Gly317Trp,ENST00000377059,NM_001195626.1;MLLT10,missense_variant,p.Gly57Trp,ENST00000438473,;MLLT10,upstream_gene_variant,,ENST00000420525,;MLLT10,non_coding_transcript_exon_variant,,ENST00000468309,;	T	ENST00000307729	Transcript	missense_variant	1127/5032	949/3207	317/1068	G/W	Ggg/Tgg	rs780160506	1		1	MLLT10	HGNC	HGNC:16063	protein_coding	YES	CCDS55708.1	ENSP00000307411	P55197		UPI00001F8FF7		deleterious(0)		10/23		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF93,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs780160506	.												T	3	4	105	21670602	21670602	G	T	1	0	0	0	0	1	0	0	0	9589	1000	35	2		2	MLLT10	10	21670602	Missense_Mutation	SNP	G	C3N-02586_TP		21670602	112126820	68	31857											
ANKRD1	0	.	GRCh38	chr10	90915793	90915793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactcactctgtctttggCgttgaggtctgcctcacagg	5	13	11	12	1	5	1	2	1	3	0	5	1	5	1	1	3	2	2	1	3	1	3	rs752017996		C3N-02586_TP	C3N-02586_NB	C	C																c.739G>T	p.Ala247Ser	p.A247S	ENST00000371697	7/9	429	270	159	800	799	1	strelka-varscan-mutect	ANKRD1,missense_variant,p.Ala247Ser,ENST00000371697,NM_014391.2;	A	ENST00000371697	Transcript	missense_variant	988/1979	739/960	247/319	A/S	Gcc/Tcc	rs752017996	1		-1	ANKRD1	HGNC	HGNC:15819	protein_coding	YES	CCDS7412.1	ENSP00000360762	Q15327		UPI00000735C1	NM_014391.2	deleterious(0.03)		7/9		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24126,hmmpanther:PTHR24126:SF7,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		rs752017996	.												A	3	1	105	90915793	90915793	C	A	1	0	0	0	0	1	0	0	0	738	768	27	1		1	ANKRD1	10	90915793	Missense_Mutation	SNP	C	C3N-02586_TP	69245191	90915793	42881629	69	31858											
TACC2	0	.	GRCh38	chr10	122216743	122216743	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggacgtgcatgacagtggaCctagaggctgacaaacagga	13	6	14	8	1	0	3	0	2	0	1	0	6	0	6	1	4	2	2	1	4	2	1	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.7461C>A	p.Asp2487Glu	p.D2487E	ENST00000369005	11/23	458	271	187	1010	1009	1	strelka-varscan-mutect	TACC2,missense_variant,p.Asp2487Glu,ENST00000369005,NM_206862.3;TACC2,missense_variant,p.Asp2487Glu,ENST00000334433,;TACC2,missense_variant,p.Asp2491Glu,ENST00000515273,NM_001291877.1;TACC2,missense_variant,p.Asp2491Glu,ENST00000453444,;TACC2,missense_variant,p.Asp2442Glu,ENST00000515603,NM_001291876.1;TACC2,missense_variant,p.Asp633Glu,ENST00000513429,NM_206861.2;TACC2,missense_variant,p.Asp565Glu,ENST00000360561,NM_206860.2;TACC2,missense_variant,p.Asp577Glu,ENST00000368999,;TACC2,missense_variant,p.Asp633Glu,ENST00000358010,;TACC2,missense_variant,p.Asp187Glu,ENST00000369000,;TACC2,missense_variant,p.Asp191Glu,ENST00000369001,NM_001291879.1;TACC2,missense_variant,p.Asp577Glu,ENST00000369004,NM_001291878.1;TACC2,missense_variant,p.Asp565Glu,ENST00000260733,NM_006997.3;TACC2,missense_variant,p.Asp582Glu,ENST00000514539,;TACC2,missense_variant,p.Asp222Glu,ENST00000496913,;TACC2,missense_variant,p.Asp67Glu,ENST00000508411,;TACC2,downstream_gene_variant,,ENST00000505639,;TACC2,3_prime_UTR_variant,,ENST00000440764,;TACC2,non_coding_transcript_exon_variant,,ENST00000368997,;	A	ENST00000369005	Transcript	missense_variant	7801/9673	7461/8847	2487/2948	D/E	gaC/gaA		1		1	TACC2	HGNC	HGNC:11523	protein_coding	YES	CCDS7626.1	ENSP00000358001	O95359		UPI0000246F6B	NM_206862.3	tolerated(0.14)		11/23		hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11																	MODERATE	1	SNV	1			1										PASS		rs1453396717	.												A	3	1	105	122216743	122216743	C	A	1	0	0	0	0	1	0	0	0	15898	506	18	2		2	TACC2	10	122216743	Missense_Mutation	SNP	C	C3N-02586_TP	31300950	122216743	11580679	70	31859											
MUC5AC	0	.	GRCh38	chr11	1198946	1198946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtggccccccatcggacGcgtttgtggtcagctgtgag	4	9	16	12	4	1	1	1	1	0	0	2	2	1	2	3	4	1	2	3	4	0	1	rs756871136		C3N-02586_TP	C3N-02586_NB	G	G																c.16246G>T	p.Ala5416Ser	p.A5416S	ENST00000621226	44/49	482	347	135	496	496	0	strelka-varscan-mutect	MUC5AC,missense_variant,p.Ala5416Ser,ENST00000621226,NM_001304359.1;	T	ENST00000621226	Transcript	missense_variant	16293/17448	16246/16965	5416/5654	A/S	Gcg/Tcg	rs756871136	1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES	CCDS76369.1	ENSP00000485659	P98088		UPI0004F23658	NM_001304359.1	tolerated(1)		44/49		PROSITE_patterns:PS01208,PROSITE_profiles:PS50184,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF291,SMART_domains:SM00214																	MODERATE	1	SNV	5			1										PASS		rs756871136	.												T	3	4	105	1198946	1198946	G	T	1	0	0	0	0	1	0	0	0	9978	1087	38	1		1	MUC5AC	11	1198946	Missense_Mutation	SNP	G	C3N-02586_TP		1198946	133887676	71	31860											
ARL14EP	0	.	GRCh38	chr11	30331153	30331153	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatttacattgacagatttGaggatttacagaagtcatgt	15	14	8	4	0	1	4	1	2	0	2	1	5	1	5	0	1	2	0	0	1	4	6	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.205G>T	p.Glu69Ter	p.E69*	ENST00000282032	2/4	120	90	30	322	322	0	strelka-varscan-mutect	ARL14EP,stop_gained,p.Glu69Ter,ENST00000530909,;ARL14EP,stop_gained,p.Glu69Ter,ENST00000282032,NM_152316.2;ARL14EP,upstream_gene_variant,,ENST00000533457,;ARL14EP,non_coding_transcript_exon_variant,,ENST00000532047,;	T	ENST00000282032	Transcript	stop_gained	420/2430	205/783	69/260	E/*	Gag/Tag		1		1	ARL14EP	HGNC	HGNC:26798	protein_coding	YES	CCDS7869.1	ENSP00000282032	Q8N8R7		UPI000000DC5B	NM_152316.2			2/4		hmmpanther:PTHR23080,hmmpanther:PTHR23080:SF72																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	105	30331153	30331153	G	T	1	0	0	0	0	0	1	0	0	1068	1291	45	2		2	ARL14EP	11	30331153	Nonsense_Mutation	SNP	G	C3N-02586_TP	29132207	30331153	104755469	72	31861											
FNBP4	0	.	GRCh38	chr11	47767117	47767117	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcagtcaccgcggtggTggtggtcgtcgccgccgacg	3	6	19	13	8	1	0	1	0	0	0	3	1	1	0	3	6	0	1	3	6	0	0	novel		C3N-02586_TP	C3N-02586_NB	T	T																c.172A>G	p.Thr58Ala	p.T58A	ENST00000263773	1/17	95	89	6	233	231	2	varscan-mutect	FNBP4,missense_variant,p.Thr58Ala,ENST00000263773,NM_001318339.1,NM_015308.2;FNBP4,missense_variant,p.Thr58Ala,ENST00000540172,;FNBP4,non_coding_transcript_exon_variant,,ENST00000534003,;FNBP4,non_coding_transcript_exon_variant,,ENST00000542975,;	C	ENST00000263773	Transcript	missense_variant	185/3972	172/3054	58/1017	T/A	Acc/Gcc		1		-1	FNBP4	HGNC	HGNC:19752	protein_coding	YES	CCDS41644.1	ENSP00000263773	Q8N3X1		UPI0000DBEF37	NM_001318339.1,NM_015308.2	tolerated(0.82)		1/17		Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs1338130809	.												C	3	2	105	47767117	47767117	T	C	1	0	0	0	0	1	0	0	0	5823	1696	59	5		5	FNBP4	11	47767117	Missense_Mutation	SNP	T	C3N-02586_TP	17435964	47767117	87319505	73	31862											
OR5L2	0	.	GRCh38	chr11	55827653	55827653	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgcgtgtggagctgacCtcttgctgctacttctgtgg	5	13	13	10	1	2	1	0	1	2	0	2	2	2	2	1	2	6	4	1	2	2	3	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.435C>A	p.=	p.T145T	ENST00000378397	1/1	238	104	134	496	496	0	strelka-varscan-mutect	OR5L2,synonymous_variant,p.=,ENST00000378397,NM_001004739.1;	A	ENST00000378397	Transcript	synonymous_variant	435/936	435/936	145/311	T	acC/acA		1		1	OR5L2	HGNC	HGNC:8351	protein_coding	YES	CCDS31511.1	ENSP00000367650	Q8NGL0		UPI0000041C49	NM_001004739.1			1/1		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF368,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321																	LOW	1	SNV				1										PASS		rs1393697802	.												A	2	1	105	55827653	55827653	C	A	1	0	0	0	0	0	0	0	1	11240	668	24	2		2	OR5L2	11	55827653	Silent	SNP	C	C3N-02586_TP	8060536	55827653	79258969	74	31863											
MS4A14	0	.	GRCh38	chr11	60416775	60416775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcaaagaagcaaacccagGatcagcaaactgaagaccag	19	3	8	11	0	2	3	2	1	0	2	2	4	2	4	2	1	4	2	2	1	5	0	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.1906G>A	p.Asp636Asn	p.D636N	ENST00000531783	6/6	298	148	150	542	542	0	strelka-varscan-mutect	MS4A14,missense_variant,p.Asp619Asn,ENST00000395001,NM_001261827.1;MS4A14,missense_variant,p.Asp603Asn,ENST00000300187,NM_032597.4;MS4A14,missense_variant,p.Asp636Asn,ENST00000531783,NM_001261828.1;MS4A14,missense_variant,p.Asp586Asn,ENST00000395005,NM_001079692.2;MS4A14,missense_variant,p.Asp491Asn,ENST00000531787,;MS4A14,3_prime_UTR_variant,,ENST00000530662,;MS4A14,3_prime_UTR_variant,,ENST00000527841,;MS4A14,3_prime_UTR_variant,,ENST00000525397,;	A	ENST00000531783	Transcript	missense_variant	1997/2910	1906/2139	636/712	D/N	Gat/Aat		1		1	MS4A14	HGNC	HGNC:30706	protein_coding	YES	CCDS58136.1	ENSP00000433761	Q96JA4		UPI0001F77AC2	NM_001261828.1	tolerated(0.27)		6/6		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	105	60416775	60416775	G	A	1	0	0	0	0	1	0	0	0	9835	1174	41	3		3	MS4A14	11	60416775	Missense_Mutation	SNP	G	C3N-02586_TP	4589122	60416775	74669847	75	31864											
STX5	0	.	GRCh38	chr11	62825091	62825091	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccgggagaactgctcTctccggctcctctgctgctt	3	11	12	15	2	2	1	0	0	2	1	5	2	4	1	3	3	5	4	3	3	1	1	novel		C3N-02586_TP	C3N-02586_NB	T	T																c.624A>T	p.Arg208Ser	p.R208S	ENST00000294179	8/11	248	145	103	441	441	0	strelka-varscan-mutect	STX5,missense_variant,p.Arg208Ser,ENST00000294179,NM_003164.4;STX5,missense_variant,p.Arg208Ser,ENST00000377897,NM_001244666.1;STX5,missense_variant,p.Arg154Ser,ENST00000394690,;STX5,missense_variant,p.Arg63Ser,ENST00000431400,;STX5,missense_variant,p.Arg208Ser,ENST00000491231,;STX5,3_prime_UTR_variant,,ENST00000492066,;STX5,downstream_gene_variant,,ENST00000488303,;STX5,downstream_gene_variant,,ENST00000486437,;	A	ENST00000294179	Transcript	missense_variant	778/1794	624/1068	208/355	R/S	agA/agT		1		-1	STX5	HGNC	HGNC:11440	protein_coding	YES	CCDS8038.2	ENSP00000294179	Q13190		UPI00001FA9B0	NM_003164.4	deleterious(0.02)		8/11		hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF3,Gene3D:1.20.58.70,Superfamily_domains:SSF47661																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	105	62825091	62825091	T	A	1	0	0	0	0	1	0	0	0	15732	1548	54	4		4	STX5	11	62825091	Missense_Mutation	SNP	T	C3N-02586_TP	2408316	62825091	72261531	76	31865											
CCDC82	0	.	GRCh38	chr11	96384511	96384511	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctctctttcacttccTggtgttttattacaatcagg	7	18	7	9	0	3	1	2	1	1	0	5	1	4	1	1	2	2	2	1	2	3	6	rs139035220		C3N-02586_TP	C3N-02586_NB	T	T																c.237A>C	p.=	p.P79P	ENST00000278520	3/9	162	82	80	457	457	0	strelka-varscan-mutect	CCDC82,synonymous_variant,p.=,ENST00000278520,NM_001318736.1,NM_024725.3;CCDC82,synonymous_variant,p.=,ENST00000423339,;CCDC82,synonymous_variant,p.=,ENST00000538597,;CCDC82,downstream_gene_variant,,ENST00000530203,;CCDC82,downstream_gene_variant,,ENST00000525786,;CCDC82,downstream_gene_variant,,ENST00000524836,;CCDC82,non_coding_transcript_exon_variant,,ENST00000530106,;	G	ENST00000278520	Transcript	synonymous_variant	666/2941	237/1635	79/544	P	ccA/ccC	rs139035220	1		-1	CCDC82	HGNC	HGNC:26282	protein_coding	YES	CCDS8307.1	ENSP00000278520	Q8N4S0	A0A024R3B3	UPI000007367A	NM_001318736.1,NM_024725.3			3/9		hmmpanther:PTHR14689																	LOW	1	SNV	5			1										PASS		rs139035220	.												G	2	3	105	96384511	96384511	T	G	1	0	0	0	0	0	0	0	1	2554	1567	55	5		5	CCDC82	11	96384511	Silent	SNP	T	C3N-02586_TP	33559420	96384511	38702111	77	31866											
GRIA4	0	.	GRCh38	chr11	105971934	105971934	+	Frame_Shift_Del	DEL	T	T	-																															aactcctgtaaaccttgccgTtttgaaactcagtgaggcag																								novel		C3N-02586_TP	C3N-02586_NB	T	T																c.2318delT	p.Leu773Ter	p.L773*	ENST00000282499	15/17	205	104	101	412	412	0	sindel-varindel-pindel	GRIA4,frameshift_variant,p.Leu773Ter,ENST00000282499,NM_000829.3;GRIA4,frameshift_variant,p.Leu773Ter,ENST00000530497,;GRIA4,intron_variant,,ENST00000393127,NM_001077243.2;GRIA4,intron_variant,,ENST00000525187,;RNU6-277P,downstream_gene_variant,,ENST00000516272,;GRIA4,intron_variant,,ENST00000533094,;GRIA4,frameshift_variant,p.Phe101LeufsTer?,ENST00000525942,;	-	ENST00000282499	Transcript	frameshift_variant	2761/5508	2315/2709	772/902	V/X	gTt/gt		1		1	GRIA4	HGNC	HGNC:4574	protein_coding	YES	CCDS8333.1	ENSP00000282499	P48058		UPI000013DCE6	NM_000829.3			15/17		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF100,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850																	HIGH	1	deletion	5	3		1										PASS		.	.												-	7	5	105	105971934	105971934	T	-	1	0	1	0	1	0	0	0	0	6650	1725	60	0		0	GRIA4	11	105971934	Frame_Shift_Del	DEL	T	C3N-02586_TP	9587423	105971934	29114688	78	31867											
IGSF9B	0	.	GRCh38	chr11	133909114	133909114	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcgtggtccacactgttGagaatcgctgtctggtcttc	6	14	10	11	2	3	1	1	1	2	1	7	2	4	1	1	2	0	2	1	2	1	2	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.4269C>T	p.=	p.L1423L	ENST00000533871	20/20	243	190	53	411	411	0	strelka-varscan-mutect	IGSF9B,synonymous_variant,p.=,ENST00000533871,NM_001277285.1;IGSF9B,non_coding_transcript_exon_variant,,ENST00000564347,;IGSF9B,downstream_gene_variant,,ENST00000530957,;	A	ENST00000533871	Transcript	synonymous_variant	4500/5050	4269/4314	1423/1437	L	ctC/ctT		1		-1	IGSF9B	HGNC	HGNC:32326	protein_coding	YES	CCDS61010.1	ENSP00000436552	Q9UPX0		UPI0002C439DB	NM_001277285.1			20/20																			LOW	1	SNV	5			1										PASS		.	.												A	2	1	105	133909114	133909114	G	A	1	0	0	0	0	0	0	0	1	7514	1277	45	3		3	IGSF9B	11	133909114	Silent	SNP	G	C3N-02586_TP	27937180	133909114	1177508	79	31868											
WNK1	0	.	GRCh38	chr12	868994	868997	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															tgccctttatccatctgcctCagacagtgttacaagaatcc																								novel		C3N-02586_TP	C3N-02586_NB	CAGA	CAGA																c.3526_3529delACAG	p.Thr1176CysfsTer21	p.T1176Cfs*21	ENST00000340908	10/28	64	34	30	113	113	0	sindel-varindel-pindel	WNK1,frameshift_variant,p.Thr1091CysfsTer21,ENST00000530271,;WNK1,frameshift_variant,p.Thr1091CysfsTer21,ENST00000537687,NM_001184985.1;WNK1,frameshift_variant,p.Thr1176CysfsTer21,ENST00000340908,NM_213655.4;WNK1,frameshift_variant,p.Thr390CysfsTer21,ENST00000574564,;WNK1,frameshift_variant,p.Thr144CysfsTer21,ENST00000574679,;WNK1,intron_variant,,ENST00000315939,NM_018979.3;WNK1,intron_variant,,ENST00000535572,NM_014823.2;WNK1,intron_variant,,ENST00000535698,;WNK1,intron_variant,,ENST00000544965,;WNK1,intron_variant,,ENST00000545285,;	-	ENST00000340908	Transcript	frameshift_variant	4166-4169/11208	3523-3526/7905	1175-1176/2634	QT/X	CAGAca/ca		1		1	WNK1	HGNC	HGNC:14540	protein_coding	YES	CCDS73419.1	ENSP00000341292	Q9H4A3		UPI0001DD21C4	NM_213655.4			10/28																			HIGH	1	deletion	5	3		1										PASS		.	.												-	7	5	105	868994	868994	CAGA	-	1	0	1	0	1	0	0	0	0	17933	827	29	0		0	WNK1	12	868994	Frame_Shift_Del	DEL	CAGA	C3N-02586_TP		868994	132406315	80	31869											
CHD4	0	.	GRCh38	chr12	6598389	6598389	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctgaccccacttccagaTtaggatcttctgcactttgc	7	13	8	13	0	2	2	0	1	2	1	3	3	3	3	3	2	2	2	3	2	1	4	novel		C3N-02586_TP	C3N-02586_NB	T	T																c.1519A>G	p.Ile507Val	p.I507V	ENST00000357008	11/40	69	39	30	128	128	0	strelka-varscan-mutect	CHD4,missense_variant,p.Ile504Val,ENST00000544484,;CHD4,missense_variant,p.Ile500Val,ENST00000544040,NM_001297553.1;CHD4,missense_variant,p.Ile507Val,ENST00000357008,NM_001273.3;CHD4,downstream_gene_variant,,ENST00000545942,;CHD4,downstream_gene_variant,,ENST00000545584,;CHD4,downstream_gene_variant,,ENST00000535810,;CHD4,upstream_gene_variant,,ENST00000536999,;CHD4,downstream_gene_variant,,ENST00000430771,;	C	ENST00000357008	Transcript	missense_variant	1683/6496	1519/5739	507/1912	I/V	Atc/Gtc		1		-1	CHD4	HGNC	HGNC:1919	protein_coding	YES	CCDS8552.1	ENSP00000349508	Q14839		UPI000013C8EF	NM_001273.3	tolerated(0.51)		11/40		Gene3D:2.40.50.40,SMART_domains:SM00298,Superfamily_domains:SSF54160																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	105	6598389	6598389	T	C	1	0	0	0	0	1	0	0	0	3086	1493	52	5		5	CHD4	12	6598389	Missense_Mutation	SNP	T	C3N-02586_TP	5729395	6598389	126676920	81	31870											
GSG1	0	.	GRCh38	chr12	13087185	13087185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataattccaaacatgtggtCtccagtcttctggacccaag	11	11	7	12	0	3	0	0	0	3	0	5	1	4	1	3	2	1	0	3	2	3	3	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.644G>A	p.Arg215Lys	p.R215K	ENST00000432710	5/6	151	81	70	275	275	0	strelka-varscan-mutect	GSG1,missense_variant,p.Arg202Lys,ENST00000337630,NM_153823.3;GSG1,missense_variant,p.Arg215Lys,ENST00000432710,NM_001206842.1,NM_001080555.2;GSG1,missense_variant,p.Arg151Lys,ENST00000457134,NM_001206845.1;GSG1,missense_variant,p.Arg174Lys,ENST00000537302,NM_001206843.1;GSG1,synonymous_variant,p.=,ENST00000396302,NM_031289.3;GSG1,synonymous_variant,p.=,ENST00000351606,NM_001080554.2;FAM234B,intron_variant,,ENST00000537625,;FAM234B,downstream_gene_variant,,ENST00000197268,NM_020853.1;GSG1,downstream_gene_variant,,ENST00000545401,;GSG1,downstream_gene_variant,,ENST00000542415,;GSG1,downstream_gene_variant,,ENST00000545699,;FAM234B,downstream_gene_variant,,ENST00000416494,;	T	ENST00000432710	Transcript	missense_variant	777/1231	644/1020	215/339	R/K	aGa/aAa		1		-1	GSG1	HGNC	HGNC:19716	protein_coding	YES	CCDS55808.1	ENSP00000405032	Q2KHT4		UPI00001413B2	NM_001206842.1,NM_001080555.2	tolerated(0.15)		5/6		hmmpanther:PTHR10671:SF43,hmmpanther:PTHR10671																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	105	13087185	13087185	C	T	1	0	0	0	0	1	0	0	0	6703	913	32	3		3	GSG1	12	13087185	Missense_Mutation	SNP	C	C3N-02586_TP	6488796	13087185	120188124	82	31871											
KRT73	0	.	GRCh38	chr12	52616376	52616376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgctgctccaggaacCgcacctggaacccatgccac	8	7	10	16	1	1	0	0	0	1	0	2	2	2	2	5	3	5	4	5	3	2	1	rs758072157		C3N-02586_TP	C3N-02586_NB	C	C																c.452G>C	p.Arg151Pro	p.R151P	ENST00000305748	2/9	171	89	82	358	358	0	strelka-varscan-mutect	KRT73,missense_variant,p.Arg151Pro,ENST00000305748,NM_175068.2;KRT73,upstream_gene_variant,,ENST00000552855,;KRT73-AS1,downstream_gene_variant,,ENST00000552364,;KRT73-AS1,downstream_gene_variant,,ENST00000549180,;KRT73-AS1,downstream_gene_variant,,ENST00000551089,;KRT73,non_coding_transcript_exon_variant,,ENST00000546934,;	G	ENST00000305748	Transcript	missense_variant	487/2284	452/1623	151/540	R/P	cGg/cCg	rs758072157	1		-1	KRT73	HGNC	HGNC:28928	protein_coding	YES	CCDS8834.1	ENSP00000307014	Q86Y46		UPI000000DCB8	NM_175068.2	deleterious(0)		2/9		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF85,Pfam_domain:PF00038,SMART_domains:SM01391,Superfamily_domains:SSF64593																	MODERATE	1	SNV	1			1										PASS		rs758072157	.												G	3	3	105	52616376	52616376	C	G	1	0	0	0	0	1	0	0	0	8368	666	23	4		4	KRT73	12	52616376	Missense_Mutation	SNP	C	C3N-02586_TP	39529191	52616376	80658933	83	31872											
RASSF9	0	.	GRCh38	chr12	85804769	85804769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactgtggttagaactgataCcagtgtccgagtctgtgtca	9	12	12	8	1	2	2	1	1	1	1	3	4	3	2	2	1	2	1	2	1	3	2	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.1241G>T	p.Gly414Val	p.G414V	ENST00000361228	2/2	104	57	47	178	177	1	strelka-varscan-mutect	RASSF9,missense_variant,p.Gly414Val,ENST00000361228,NM_005447.3;	A	ENST00000361228	Transcript	missense_variant	1610/5682	1241/1308	414/435	G/V	gGt/gTt		1		-1	RASSF9	HGNC	HGNC:15739	protein_coding	YES	CCDS44950.1	ENSP00000354884	O75901		UPI000003E7E4	NM_005447.3	deleterious(0)		2/2		hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	105	85804769	85804769	C	A	1	0	0	0	0	1	0	0	0	13254	507	18	2		2	RASSF9	12	85804769	Missense_Mutation	SNP	C	C3N-02586_TP	33188393	85804769	47470540	84	31873											
ANO4	0	.	GRCh38	chr12	101110484	101110484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttactgaataacataattGaaattcgacttgatgcttac	14	14	5	8	1	0	3	0	3	0	0	1	4	0	3	1	0	4	1	1	0	6	7	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.2230G>A	p.Glu744Lys	p.E744K	ENST00000392977	23/28	134	83	51	336	336	0	strelka-varscan-mutect	ANO4,missense_variant,p.Glu709Lys,ENST00000392979,NM_178826.3;ANO4,missense_variant,p.Glu744Lys,ENST00000392977,NM_001286615.1,NM_001286616.1;ANO4,missense_variant,p.Glu264Lys,ENST00000550015,;	A	ENST00000392977	Transcript	missense_variant	2440/3509	2230/2868	744/955	E/K	Gaa/Aaa		1		1	ANO4	HGNC	HGNC:23837	protein_coding	YES	CCDS66445.1	ENSP00000376703	Q32M45		UPI0000577AB6	NM_001286615.1,NM_001286616.1	deleterious(0)		23/28		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Pfam_domain:PF04547																	MODERATE	1	SNV	2			1										PASS		rs1337641247	.												A	3	1	105	101110484	101110484	G	A	1	0	0	0	0	1	0	0	0	806	1291	45	3		3	ANO4	12	101110484	Missense_Mutation	SNP	G	C3N-02586_TP	15305715	101110484	32164825	85	31874											
WSCD2	0	.	GRCh38	chr12	108232748	108232748	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaaccgttgcatggacAgaaggttcctgccaggcaag	12	6	12	11	1	0	2	0	0	0	2	1	3	1	3	3	3	3	4	3	3	3	2	novel		C3N-02586_TP	C3N-02586_NB	A	A																c.997A>G	p.Arg333Gly	p.R333G	ENST00000332082	8/10	111	50	61	204	204	0	strelka-varscan-mutect	WSCD2,missense_variant,p.Arg333Gly,ENST00000332082,NM_001304447.1;WSCD2,missense_variant,p.Arg333Gly,ENST00000547525,NM_014653.3;WSCD2,missense_variant,p.Arg333Gly,ENST00000549903,;WSCD2,non_coding_transcript_exon_variant,,ENST00000546629,;	G	ENST00000332082	Transcript	missense_variant	1815/4710	997/1698	333/565	R/G	Aga/Gga		1		1	WSCD2	HGNC	HGNC:29117	protein_coding	YES	CCDS41828.1	ENSP00000331933	Q2TBF2		UPI00001C1F3A	NM_001304447.1	deleterious(0.01)		8/10		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF5,Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	105	108232748	108232748	A	G	1	0	0	0	0	1	0	0	0	17964	180	7	5		5	WSCD2	12	108232748	Missense_Mutation	SNP	A	C3N-02586_TP	7122264	108232748	25042561	86	31875											
ZNF268	0	.	GRCh38	chr12	133191995	133191995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccaagttccaaatcagaCctgtccaagtgagtgatgga	12	8	11	10	0	1	3	1	2	0	1	3	4	3	4	4	2	0	1	4	2	3	1	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.449C>A	p.Thr150Asn	p.T150N	ENST00000536435	5/6	78	45	33	203	203	0	strelka-varscan-mutect	ZNF268,missense_variant,p.Thr150Asn,ENST00000536435,NM_003415.2;ZNF268,missense_variant,p.Thr150Asn,ENST00000541009,NM_152943.2;ZNF268,missense_variant,p.Thr135Asn,ENST00000542986,;ZNF268,missense_variant,p.Thr150Asn,ENST00000228289,NM_001165881.2;CTD-2140B24.4,missense_variant,p.Thr315Asn,ENST00000540096,;ZNF268,missense_variant,p.Thr150Asn,ENST00000416488,;ZNF268,missense_variant,p.Pro41Thr,ENST00000542711,NM_001165886.1;ZNF268,missense_variant,p.Pro108Thr,ENST00000541211,NM_001165885.1;ZNF268,missense_variant,p.Thr67Asn,ENST00000500625,NM_001165882.2;ZNF268,missense_variant,p.Thr83Asn,ENST00000592241,NM_001165887.1;ZNF268,missense_variant,p.Thr70Asn,ENST00000591951,;ZNF268,missense_variant,p.Thr83Asn,ENST00000611984,;ZNF268,intron_variant,,ENST00000536899,NM_001165884.2;ZNF268,intron_variant,,ENST00000539248,NM_001165883.1;ZNF268,downstream_gene_variant,,ENST00000541975,;ZNF268,missense_variant,p.Pro41Thr,ENST00000588312,;ZNF268,non_coding_transcript_exon_variant,,ENST00000585488,;ZNF268,non_coding_transcript_exon_variant,,ENST00000534953,;ZNF268,downstream_gene_variant,,ENST00000546126,;ZNF268,downstream_gene_variant,,ENST00000537973,;	A	ENST00000536435	Transcript	missense_variant	779/13475	449/2844	150/947	T/N	aCc/aAc		1		1	ZNF268	HGNC	HGNC:13061	protein_coding	YES	CCDS45012.1	ENSP00000444412	Q14587		UPI000013C33E	NM_003415.2	tolerated(0.34)		5/6		PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF255,hmmpanther:PTHR24377																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	105	133191995	133191995	C	A	1	0	0	0	0	1	0	0	0	18383	507	18	2		2	ZNF268	12	133191995	Missense_Mutation	SNP	C	C3N-02586_TP	24959247	133191995	83314	87	31876											
COL4A2	0	.	GRCh38	chr13	110495378	110495378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccaggcttcccaggccCtcctggggaaagaggtgacc	9	5	13	14	0	0	3	0	1	0	2	2	4	2	4	5	5	0	1	5	5	1	1	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.3671C>A	p.Pro1224His	p.P1224H	ENST00000360467	40/48	355	181	174	595	595	0	strelka-varscan-mutect	COL4A2,missense_variant,p.Pro1224His,ENST00000360467,NM_001846.2;	A	ENST00000360467	Transcript	missense_variant	3977/6281	3671/5139	1224/1712	P/H	cCt/cAt		1		1	COL4A2	HGNC	HGNC:2203	protein_coding	YES	CCDS41907.1	ENSP00000353654	P08572	A0A024RDW8	UPI000041C713	NM_001846.2	tolerated(0.1)		40/48		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	105	110495378	110495378	C	A	1	0	0	0	0	1	0	0	0	3479	681	24	2		2	COL4A2	13	110495378	Missense_Mutation	SNP	C	C3N-02586_TP		110495378	3868950	88	31877											
TMEM255B	0	.	GRCh38	chr13	113801722	113801722	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggacgtgctgcacctgtaCcgcctgctctgggcctctgc	4	9	12	16	2	2	0	0	0	2	0	2	1	2	1	4	2	5	4	4	2	1	1	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.579C>T	p.=	p.Y193Y	ENST00000375353	7/9	109	78	31	248	248	0	strelka-varscan-mutect	TMEM255B,synonymous_variant,p.=,ENST00000375353,NM_182614.2;TMEM255B,downstream_gene_variant,,ENST00000488362,;TMEM255B,non_coding_transcript_exon_variant,,ENST00000498692,;TMEM255B,upstream_gene_variant,,ENST00000467169,;TMEM255B,downstream_gene_variant,,ENST00000375348,;	T	ENST00000375353	Transcript	synonymous_variant	606/6100	579/981	193/326	Y	taC/taT		1		1	TMEM255B	HGNC	HGNC:28297	protein_coding	YES	CCDS45071.1	ENSP00000364502	Q8WV15		UPI0000071C2C	NM_182614.2			7/9		hmmpanther:PTHR33721:SF3,hmmpanther:PTHR33721,Pfam_domain:PF14967																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	105	113801722	113801722	C	T	1	0	0	0	0	0	0	0	1	16615	518	18	3		3	TMEM255B	13	113801722	Silent	SNP	C	C3N-02586_TP	3306344	113801722	562606	89	31878											
LRRC9	0	.	GRCh38	chr14	59960982	59960982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttattgatcccactttTgttaattgagttagagactg	9	17	9	6	0	0	3	0	2	0	1	1	4	1	3	1	1	0	3	1	1	3	7	novel		C3N-02586_TP	C3N-02586_NB	T	T																c.1148T>C	p.Leu383Ser	p.L383S	ENST00000445360	10/32	63	39	24	281	281	0	strelka-varscan-mutect	LRRC9,missense_variant,p.Leu383Ser,ENST00000445360,;LRRC9,downstream_gene_variant,,ENST00000454474,;LRRC9,missense_variant,p.Leu383Ser,ENST00000254271,;	C	ENST00000445360	Transcript	missense_variant	1352/4717	1148/4362	383/1453	L/S	tTg/tCg		1		1	LRRC9	HGNC	HGNC:19848	protein_coding	YES		ENSP00000454748	Q6ZRR7		UPI000173AA0B		deleterious(0)		10/32		Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	105	59960982	59960982	T	C	1	0	0	0	0	1	0	0	0	8930	1821	63	5		5	LRRC9	14	59960982	Missense_Mutation	SNP	T	C3N-02586_TP		59960982	47082736	90	31879											
IRF2BPL	0	.	GRCh38	chr14	77026386	77026386	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccaagcaggcgccagtcCccggagccgtgcttcttttc	5	10	10	16	3	2	0	0	0	2	0	5	1	3	1	5	2	3	2	5	2	1	3	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.1407G>T	p.=	p.G469G	ENST00000238647	1/1	183	91	92	316	316	0	strelka-varscan-mutect	IRF2BPL,synonymous_variant,p.=,ENST00000238647,NM_024496.3;RP11-7F17.8,upstream_gene_variant,,ENST00000619017,;	A	ENST00000238647	Transcript	synonymous_variant	2314/4157	1407/2391	469/796	G	ggG/ggT		1		-1	IRF2BPL	HGNC	HGNC:14282	protein_coding	YES	CCDS9854.1	ENSP00000238647	Q9H1B7		UPI00000738BA	NM_024496.3			1/1		hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF14																	LOW	1	SNV				1										PASS		rs1207735151	.												A	2	1	105	77026386	77026386	C	A	1	0	0	0	0	0	0	0	1	7737	610	22	2		2	IRF2BPL	14	77026386	Silent	SNP	C	C3N-02586_TP	17065404	77026386	30017332	91	31880											
UNC79	0	.	GRCh38	chr14	93659223	93659223	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccagtttaagaattatgAtttgcctcttgaagatccct	11	16	6	8	0	1	4	0	2	1	2	3	4	3	4	3	0	1	1	3	0	4	6	novel		C3N-02586_TP	C3N-02586_NB	A	A																c.6073A>G	p.Ile2025Val	p.I2025V	ENST00000256339	40/50	81	46	35	325	325	0	strelka-varscan-mutect	UNC79,missense_variant,p.Ile2224Val,ENST00000553484,;UNC79,missense_variant,p.Ile2163Val,ENST00000555664,;UNC79,missense_variant,p.Ile2025Val,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Ile2202Val,ENST00000393151,;UNC79,missense_variant,p.Ile2025Val,ENST00000621021,;	G	ENST00000256339	Transcript	missense_variant	6728/8400	6073/7377	2025/2458	I/V	Att/Gtt		1		1	UNC79	HGNC	HGNC:19966	protein_coding	YES	CCDS9911.2	ENSP00000256339	Q9P2D8		UPI0000D62441	NM_020818.3	tolerated(0.13)		40/50		hmmpanther:PTHR21696:SF2,hmmpanther:PTHR21696																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	105	93659223	93659223	A	G	1	0	0	0	0	1	0	0	0	17520	333	12	5		5	UNC79	14	93659223	Missense_Mutation	SNP	A	C3N-02586_TP	16632837	93659223	13384495	92	31881											
IL16	0	.	GRCh38	chr15	81297046	81297046	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaccaagtcctccacagAgggcgagccagggtggagaa	13	3	14	11	1	0	3	0	0	0	3	2	5	2	3	4	3	1	0	4	3	2	0	novel		C3N-02586_TP	C3N-02586_NB	A	A																c.2021A>T	p.Glu674Val	p.E674V	ENST00000302987	12/18	110	56	54	187	187	0	strelka-varscan-mutect	IL16,missense_variant,p.Glu674Val,ENST00000394660,NM_001172128.1;IL16,missense_variant,p.Glu674Val,ENST00000302987,NM_172217.3;IL16,5_prime_UTR_variant,,ENST00000394652,NM_004513.5;IL16,downstream_gene_variant,,ENST00000559383,;IL16,upstream_gene_variant,,ENST00000558332,;IL16,non_coding_transcript_exon_variant,,ENST00000560230,;IL16,missense_variant,p.Glu20Val,ENST00000558857,;IL16,3_prime_UTR_variant,,ENST00000360547,;IL16,3_prime_UTR_variant,,ENST00000560115,;IL16,downstream_gene_variant,,ENST00000560241,;	T	ENST00000302987	Transcript	missense_variant	2021/3999	2021/3999	674/1332	E/V	gAg/gTg		1		1	IL16	HGNC	HGNC:5980	protein_coding	YES	CCDS42069.1	ENSP00000302935	Q14005		UPI0000229CE7	NM_172217.3	tolerated(0.28)		12/18		hmmpanther:PTHR11324:SF2,hmmpanther:PTHR11324																	MODERATE	1	SNV	1			1										PASS		rs1038053856	.												T	3	4	105	81297046	81297046	A	T	1	0	0	0	0	1	0	0	0	7541	304	11	4		4	IL16	15	81297046	Missense_Mutation	SNP	A	C3N-02586_TP		81297046	20694143	93	31882											
ITGAX	0	.	GRCh38	chr16	31380578	31380578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgaaattacgttcgacacatCcgtgtactcccagcttccag	10	11	7	13	3	0	1	0	1	0	0	4	2	3	1	3	0	3	3	3	0	3	4			C3N-02586_TP	C3N-02586_NB	C	C																c.3230C>T	p.Ser1077Phe	p.S1077F	ENST00000562522	28/31	402	235	167	854	854	0	strelka-varscan-mutect	ITGAX,missense_variant,p.Ser1077Phe,ENST00000268296,NM_000887.4;ITGAX,missense_variant,p.Ser1077Phe,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;	T	ENST00000562522	Transcript	missense_variant	3263/3990	3230/3510	1077/1169	S/F	tCc/tTc	COSM3509191	1		1	ITGAX	HGNC	HGNC:6152	protein_coding	YES	CCDS67014.1	ENSP00000454623		H3BN02	UPI000041E001	NM_001286375.1	deleterious(0)		28/31		hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF17,Superfamily_domains:SSF69179											1						MODERATE	1	SNV	1		1	1										PASS		.	.												T	3	4	105	31380578	31380578	C	T	1	0	0	0	0	1	0	0	0	7796	855	30	3		3	ITGAX	16	31380578	Missense_Mutation	SNP	C	C3N-02586_TP		31380578	58957767	94	31883											
TRPV3	0	.	GRCh38	chr17	3514652	3514652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgtgcgtcttccattcaGtccacttcacctcattgatc	8	13	6	14	2	4	2	3	1	1	1	7	2	6	2	3	0	1	0	3	0	0	4	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.2219C>A	p.Thr740Asn	p.T740N	ENST00000301365	17/18	192	109	83	375	375	0	strelka-varscan-mutect	TRPV3,missense_variant,p.Thr724Asn,ENST00000616411,;TRPV3,missense_variant,p.Thr740Asn,ENST00000301365,NM_001258205.1;TRPV3,missense_variant,p.Thr740Asn,ENST00000572519,;TRPV3,missense_variant,p.Thr740Asn,ENST00000576742,NM_145068.3;SPATA22,upstream_gene_variant,,ENST00000541913,NM_001321336.1;SPATA22,upstream_gene_variant,,ENST00000570318,;TRPV3,3_prime_UTR_variant,,ENST00000381913,;TRPV3,3_prime_UTR_variant,,ENST00000573539,;TRPV3,3_prime_UTR_variant,,ENST00000571139,;TRPV3,3_prime_UTR_variant,,ENST00000577016,;	T	ENST00000301365	Transcript	missense_variant	2351/3235	2219/2376	740/791	T/N	aCt/aAt		1		-1	TRPV3	HGNC	HGNC:18084	protein_coding	YES	CCDS58500.1	ENSP00000301365	Q8NET8		UPI0000200627	NM_001258205.1	tolerated(0.21)		17/18		hmmpanther:PTHR10582:SF6,hmmpanther:PTHR10582,Prints_domain:PR01768																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	105	3514652	3514652	G	T	1	0	0	0	0	1	0	0	0	17103	1029	36	2		2	TRPV3	17	3514652	Missense_Mutation	SNP	G	C3N-02586_TP		3514652	79742789	95	31884											
TP53	0	.	GRCh38	chr17	7674187	7674187	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggctcctgacctggagTcttccagtgtgatgatggtg	7	12	14	8	0	1	3	0	3	1	0	3	4	3	4	3	3	0	1	3	3	1	1	rs745425759		C3N-02586_TP	C3N-02586_NB	T	T																c.776A>T	p.Asp259Val	p.D259V	ENST00000269305	7/11	243	126	117	441	439	2	strelka-varscan-mutect	TP53,missense_variant,p.Asp259Val,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Asp259Val,ENST00000420246,;TP53,missense_variant,p.Asp220Val,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Asp220Val,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Asp259Val,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Asp220Val,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Asp259Val,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Asp220Val,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Asp259Val,ENST00000445888,;TP53,missense_variant,p.Asp220Val,ENST00000619485,;TP53,missense_variant,p.Asp127Val,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Asp100Val,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Asp127Val,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Asp100Val,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Asp127Val,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Asp100Val,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Asp259Val,ENST00000359597,;TP53,missense_variant,p.Asp248Val,ENST00000615910,;TP53,missense_variant,p.Asp259Val,ENST00000413465,;TP53,missense_variant,p.Asp127Val,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,missense_variant,p.Asp220Val,ENST00000635293,;TP53,downstream_gene_variant,,ENST00000505014,;	A	ENST00000269305	Transcript	missense_variant	966/2579	776/1182	259/393	D/V	gAc/gTc	rs745425759,TP53_g.13413A>G,TP53_g.13413A>T,TP53_g.13413A>C,TP53_g.13413del,COSM1646864,COSM3378342,COSM43724,COSM45615,COSM707907,COSM707908	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0.01)		7/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417										uncertain_significance	0,0,0,0,0,1,1,1,1,1,1						MODERATE	1	SNV	1		1,0,0,0,0,1,1,1,1,1,1	1										PASS		rs745425759	.												A	3	1	105	7674187	7674187	T	A	1	0	0	0	0	1	0	0	0	16859	1667	58	4		4	TP53	17	7674187	Missense_Mutation	SNP	T	C3N-02586_TP	4159535	7674187	75583254	96	31885											
MYH2	0	.	GRCh38	chr17	10543737	10543737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagttgtcattcctcaCggtcttggcgttgccaaagg	8	11	13	9	2	3	1	2	0	1	1	4	2	4	2	2	4	1	2	2	4	1	4	rs775289093		C3N-02586_TP	C3N-02586_NB	C	C																c.715G>T	p.Val239Leu	p.V239L	ENST00000245503	8/40	332	167	165	686	686	0	strelka-varscan-mutect	MYH2,missense_variant,p.Val239Leu,ENST00000245503,NM_017534.5;MYH2,missense_variant,p.Val239Leu,ENST00000397183,NM_001100112.1;MYH2,missense_variant,p.Val239Leu,ENST00000532183,;MYH2,missense_variant,p.Val239Leu,ENST00000622564,;MYH2,downstream_gene_variant,,ENST00000420805,;MYH2,downstream_gene_variant,,ENST00000578017,;MYHAS,intron_variant,,ENST00000587182,;	A	ENST00000245503	Transcript	missense_variant	1100/6339	715/5826	239/1941	V/L	Gtg/Ttg	rs775289093,COSM4063876	1		-1	MYH2	HGNC	HGNC:7572	protein_coding	YES	CCDS11156.1	ENSP00000245503	Q9UKX2		UPI000012FB6C	NM_017534.5	tolerated(0.38)		8/40		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF385,SMART_domains:SM00242,Superfamily_domains:SSF52540											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs775289093	.												A	3	1	105	10543737	10543737	C	A	1	0	0	0	0	1	0	0	0	10035	536	19	1		1	MYH2	17	10543737	Missense_Mutation	SNP	C	C3N-02586_TP	2869550	10543737	72713704	97	31886											
SHISA6	0	.	GRCh38	chr17	11263501	11263501	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaaaccactacactccTgtgcgtacggccaagcagac	13	6	7	15	2	0	1	0	0	0	1	2	1	2	1	4	1	5	2	4	1	5	2	novel		C3N-02586_TP	C3N-02586_NB	T	T																c.774T>A	p.=	p.P258P	ENST00000441885	2/6	182	87	95	251	251	0	strelka-varscan-mutect	SHISA6,synonymous_variant,p.=,ENST00000441885,NM_207386.3;SHISA6,synonymous_variant,p.=,ENST00000432116,NM_001173462.1;SHISA6,synonymous_variant,p.=,ENST00000409168,NM_001173461.1;SHISA6,synonymous_variant,p.=,ENST00000343478,;	A	ENST00000441885	Transcript	synonymous_variant	934/7575	774/1656	258/551	P	ccT/ccA		1		1	SHISA6	HGNC	HGNC:34491	protein_coding	YES	CCDS45615.1	ENSP00000390084	Q6ZSJ9		UPI000183CBD8	NM_207386.3			2/6		hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF0,Pfam_domain:PF13908																	LOW	1	SNV	5			1										PASS		.	.												A	2	1	105	11263501	11263501	T	A	1	0	0	0	0	0	0	0	1	14544	1567	55	4		4	SHISA6	17	11263501	Silent	SNP	T	C3N-02586_TP	719764	11263501	71993940	98	31887											
MRPL10	0	.	GRCh38	chr17	47826758	47826758	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagattttggtacttggaAtcctccaggaagggcttcag	10	11	12	8	0	1	1	1	0	0	1	3	3	3	3	2	4	2	3	2	4	3	5			C3N-02586_TP	C3N-02586_NB	A	A																c.441T>C	p.=	p.D147D	ENST00000290208	4/5	151	142	9	248	244	4	varscan-mutect	MRPL10,synonymous_variant,p.=,ENST00000290208,;MRPL10,synonymous_variant,p.=,ENST00000351111,NM_145255.3;MRPL10,synonymous_variant,p.=,ENST00000414011,NM_148887.2;OSBPL7,upstream_gene_variant,,ENST00000007414,NM_145798.2;OSBPL7,upstream_gene_variant,,ENST00000392507,;OSBPL7,upstream_gene_variant,,ENST00000613735,;LRRC46,upstream_gene_variant,,ENST00000269025,NM_033413.3;MRPL10,3_prime_UTR_variant,,ENST00000421763,;LRRC46,upstream_gene_variant,,ENST00000584580,;OSBPL7,upstream_gene_variant,,ENST00000580140,;LRRC46,upstream_gene_variant,,ENST00000579971,;OSBPL7,upstream_gene_variant,,ENST00000580226,;LRRC46,upstream_gene_variant,,ENST00000579742,;MRPL10,downstream_gene_variant,,ENST00000423147,;MRPL10,downstream_gene_variant,,ENST00000480901,;MRPL10,downstream_gene_variant,,ENST00000466016,;	G	ENST00000290208	Transcript	synonymous_variant	894/2013	441/816	147/271	D	gaT/gaC	COSM1493941	1		-1	MRPL10	HGNC	HGNC:14055	protein_coding	YES	CCDS11517.1	ENSP00000290208	Q7Z7H8		UPI000013DFCA				4/5		hmmpanther:PTHR11560:SF8,hmmpanther:PTHR11560,Pfam_domain:PF00466,Superfamily_domains:0053665											1						LOW		SNV	2		1	1										PASS		rs1190300346	.												G	2	3	105	47826758	47826758	A	G	1	0	0	0	0	0	0	0	1	9750	98	4	5		5	MRPL10	17	47826758	Silent	SNP	A	C3N-02586_TP	36563257	47826758	35430683	99	31888											
ANKRD40	0	.	GRCh38	chr17	50699648	50699648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaagaggtgtggtcccGgggaaaggtccctaacaggg	10	6	16	9	1	0	1	0	0	0	1	2	2	2	2	3	6	2	0	3	6	3	1			C3N-02586_TP	C3N-02586_NB	G	G																c.529C>T	p.Arg177Trp	p.R177W	ENST00000285243	3/5	256	128	128	410	409	1	strelka-varscan-mutect	ANKRD40,missense_variant,p.Arg177Trp,ENST00000285243,NM_052855.3;ANKRD40,missense_variant,p.Arg99Trp,ENST00000513072,;RP11-294J22.6,downstream_gene_variant,,ENST00000574246,;Y_RNA,downstream_gene_variant,,ENST00000364470,;ANKRD40,downstream_gene_variant,,ENST00000507114,;	A	ENST00000285243	Transcript	missense_variant	799/4184	529/1107	177/368	R/W	Cgg/Tgg	COSM145097	1		-1	ANKRD40	HGNC	HGNC:28233	protein_coding	YES	CCDS11572.1	ENSP00000285243	Q6AI12	A8IK34	UPI000006F76F	NM_052855.3	tolerated(0.18)		3/5		hmmpanther:PTHR24192											1						MODERATE	1	SNV	1		1	1										PASS		rs1358649196	.												A	3	1	105	50699648	50699648	G	A	1	0	0	0	0	1	0	0	0	775	1115	39	1		1	ANKRD40	17	50699648	Missense_Mutation	SNP	G	C3N-02586_TP	2872890	50699648	32557793	100	31889											
TOB1	0	.	GRCh38	chr17	50863913	50863913	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatatttcttcttaagAagtctttcaagttcttcacc	9	18	3	11	0	7	1	3	0	4	1	7	1	7	1	2	0	0	1	2	0	4	8	rs371095924		C3N-02586_TP	C3N-02586_NB	A	A																c.105T>A	p.=	p.L35L	ENST00000499247	2/2	188	173	15	440	440	0	strelka-varscan-mutect	TOB1,synonymous_variant,p.=,ENST00000499247,NM_005749.3,NM_001243885.1;TOB1,synonymous_variant,p.=,ENST00000268957,NM_001243877.1;TOB1-AS1,upstream_gene_variant,,ENST00000416263,;TOB1-AS1,upstream_gene_variant,,ENST00000514358,;TOB1-AS1,upstream_gene_variant,,ENST00000523470,;TOB1,non_coding_transcript_exon_variant,,ENST00000509385,;	T	ENST00000499247	Transcript	synonymous_variant	539/2229	105/1038	35/345	L	ctT/ctA	rs371095924	1		-1	TOB1	HGNC	HGNC:11979	protein_coding	YES	CCDS11576.1	ENSP00000427695	P50616		UPI00001370FB	NM_005749.3,NM_001243885.1			2/2		Low_complexity_(Seg):seg,hmmpanther:PTHR17537:SF6,hmmpanther:PTHR17537,Pfam_domain:PF07742,SMART_domains:SM00099,Superfamily_domains:SSF160696,Prints_domain:PR00310																	LOW	1	SNV	1			1										PASS		rs371095924	.												T	2	4	105	50863913	50863913	A	T	1	0	0	0	0	0	0	0	1	16821	233	9	4		4	TOB1	17	50863913	Silent	SNP	A	C3N-02586_TP	164265	50863913	32393528	101	31890											
KLHL14	0	.	GRCh38	chr18	32769950	32769950	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcctcgaagttgagcagCagcacatcctccaccaggta	11	8	8	14	1	1	1	0	1	1	0	5	2	3	1	4	1	3	5	4	1	2	2	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.642G>C	p.=	p.L214L	ENST00000359358	2/9	370	213	157	869	869	0	strelka-varscan-mutect	KLHL14,synonymous_variant,p.=,ENST00000359358,NM_020805.1;KLHL14,synonymous_variant,p.=,ENST00000358095,;KLHL14,downstream_gene_variant,,ENST00000583263,;AC012123.1,non_coding_transcript_exon_variant,,ENST00000426194,;	G	ENST00000359358	Transcript	synonymous_variant	1081/4312	642/1887	214/628	L	ctG/ctC		1		-1	KLHL14	HGNC	HGNC:29266	protein_coding	YES	CCDS32813.1	ENSP00000352314	Q9P2G3		UPI00001C1FF2	NM_020805.1			2/9		Pfam_domain:PF07707,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF60,SMART_domains:SM00875																	LOW	1	SNV	1			1										PASS		rs1285674467	.												G	2	3	105	32769950	32769950	C	G	1	0	0	0	0	0	0	0	1	8234	697	25	4		4	KLHL14	18	32769950	Silent	SNP	C	C3N-02586_TP		32769950	47603335	102	31891											
COL5A3	0	.	GRCh38	chr19	9995611	9995611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtccctgcaggcctcGgggaccctagaagaaagcaa	12	5	13	11	1	0	3	0	1	0	2	2	4	1	4	3	4	2	2	3	4	4	1	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.1540C>G	p.Arg514Gly	p.R514G	ENST00000264828	16/67	63	36	27	108	108	0	strelka-varscan-mutect	COL5A3,missense_variant,p.Arg514Gly,ENST00000264828,NM_015719.3;CTD-2553C6.1,upstream_gene_variant,,ENST00000592332,;	C	ENST00000264828	Transcript	missense_variant	1626/6174	1540/5238	514/1745	R/G	Cga/Gga		1		-1	COL5A3	HGNC	HGNC:14864	protein_coding	YES	CCDS12222.1	ENSP00000264828	P25940		UPI00002032A3	NM_015719.3	deleterious(0)		16/67		Pfam_domain:PF01391																	MODERATE	1	SNV	1			1										PASS		rs1229439408	.												C	3	2	105	9995611	9995611	G	C	1	0	0	0	0	1	0	0	0	3487	1124	39	4		4	COL5A3	19	9995611	Missense_Mutation	SNP	G	C3N-02586_TP		9995611	48622005	103	31892											
SLC1A6	0	.	GRCh38	chr19	14954270	14954270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggacgaacctggtgatgCggcggtccacacccaggccc	8	4	14	15	3	0	1	0	1	0	0	1	3	1	2	4	5	2	1	4	5	1	0			C3N-02586_TP	C3N-02586_NB	C	C																c.1229G>A	p.Arg410His	p.R410H	ENST00000221742	7/9	377	226	151	751	751	0	strelka-varscan-mutect	SLC1A6,missense_variant,p.Arg346His,ENST00000430939,;SLC1A6,missense_variant,p.Arg332His,ENST00000600144,;SLC1A6,missense_variant,p.Arg410His,ENST00000221742,NM_005071.2;	T	ENST00000221742	Transcript	missense_variant	1237/1719	1229/1695	410/564	R/H	cGc/cAc	COSM4074896	1		-1	SLC1A6	HGNC	HGNC:10944	protein_coding	YES	CCDS12321.1	ENSP00000221742	P48664		UPI0000129B1A	NM_005071.2	deleterious(0)		7/9		hmmpanther:PTHR11958:SF67,hmmpanther:PTHR11958,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221											1						MODERATE	1	SNV	1		1	1										PASS		rs1320404699	.												T	3	4	105	14954270	14954270	C	T	1	0	0	0	0	1	0	0	0	14702	768	27	1		1	SLC1A6	19	14954270	Missense_Mutation	SNP	C	C3N-02586_TP	4958659	14954270	43663346	104	31893											
TSHZ3	0	.	GRCh38	chr19	31279133	31279133	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagggtgtcgtaggcagcGctgcagtccttacagcggaa	9	7	14	11	3	0	0	0	0	0	0	2	1	1	1	2	3	4	4	2	3	3	2	rs779306559		C3N-02586_TP	C3N-02586_NB	G	G																c.660C>G	p.Ser220Arg	p.S220R	ENST00000240587	2/2	109	48	61	149	149	0	strelka-varscan-mutect	TSHZ3,missense_variant,p.Ser220Arg,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;	C	ENST00000240587	Transcript	missense_variant	988/5176	660/3246	220/1081	S/R	agC/agG	rs779306559	1		-1	TSHZ3	HGNC	HGNC:30700	protein_coding	YES	CCDS12421.2	ENSP00000240587	Q63HK5		UPI0000202000	NM_020856.2	deleterious(0)		2/2		PROSITE_patterns:PS00028,hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5,SMART_domains:SM00355																	MODERATE	1	SNV	1			1										PASS		rs779306559	.												C	3	2	105	31279133	31279133	G	C	1	0	0	0	0	1	0	0	0	17130	1078	38	4		4	TSHZ3	19	31279133	Missense_Mutation	SNP	G	C3N-02586_TP	16324863	31279133	27338483	105	31894											
PSG2	0	.	GRCh38	chr19	43081073	43081073	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accgtctactacatatgatgTaatgtaatggtagaggtccc	12	12	9	8	1	1	2	0	1	1	1	2	2	2	2	2	2	2	3	2	2	6	6	novel		C3N-02586_TP	C3N-02586_NB	T	T																c.238A>T	p.Thr80Ser	p.T80S	ENST00000406487	2/6	252	143	109	556	556	0	strelka-varscan-mutect	PSG2,missense_variant,p.Thr80Ser,ENST00000406487,NM_031246.3;CTC-490G23.6,intron_variant,,ENST00000635495,;PSG2,intron_variant,,ENST00000593482,;PSG2,downstream_gene_variant,,ENST00000491995,;	A	ENST00000406487	Transcript	missense_variant	337/1538	238/1008	80/335	T/S	Aca/Tca		1		-1	PSG2	HGNC	HGNC:9519	protein_coding	YES	CCDS12616.1	ENSP00000385706	P11465	A0A024R0M4	UPI000013CCF5	NM_031246.3	deleterious(0.02)		2/6		Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	105	43081073	43081073	T	A	1	0	0	0	0	1	0	0	0	12806	1638	57	4		4	PSG2	19	43081073	Missense_Mutation	SNP	T	C3N-02586_TP	11801940	43081073	15536543	106	31895											
ZNF45	0	.	GRCh38	chr19	43914705	43914705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catatttgtatggattctctCcagtgggaactctctgatga	9	15	9	8	0	2	2	0	2	2	0	5	4	3	4	1	2	1	1	1	2	3	4	novel		C3N-02586_TP	C3N-02586_NB	C	C																c.731G>T	p.Gly244Val	p.G244V	ENST00000269973	10/10	101	57	44	265	264	1	strelka-varscan-mutect	ZNF45,missense_variant,p.Gly244Val,ENST00000269973,NM_003425.3;ZNF45,missense_variant,p.Gly244Val,ENST00000615985,;ZNF45,missense_variant,p.Gly244Val,ENST00000589703,;ZNF45,downstream_gene_variant,,ENST00000588140,;RP11-15A1.2,intron_variant,,ENST00000586247,;	A	ENST00000269973	Transcript	missense_variant	1822/3898	731/2049	244/682	G/V	gGa/gTa		1		-1	ZNF45	HGNC	HGNC:13111	protein_coding	YES	CCDS12632.1	ENSP00000269973	Q02386		UPI0000001C64	NM_003425.3	tolerated(0.1)		10/10		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF174,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	105	43914705	43914705	C	A	1	0	0	0	0	1	0	0	0	18492	855	30	2		2	ZNF45	19	43914705	Missense_Mutation	SNP	C	C3N-02586_TP	833632	43914705	14702911	107	31896											
BHMG1	0	.	GRCh38	chr19	45761828	45761828	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagctccagctccagctcGgaggacagcgactcggagcc	8	5	12	16	3	0	0	0	0	0	0	5	4	3	3	4	3	5	3	4	3	0	0	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.1395G>C	p.=	p.S465S	ENST00000457052	12/15	57	52	5	119	119	0	varscan-mutect	BHMG1,synonymous_variant,p.=,ENST00000457052,NM_001310124.1;SIX5,downstream_gene_variant,,ENST00000317578,NM_175875.4;SIX5,downstream_gene_variant,,ENST00000560168,;SIX5,downstream_gene_variant,,ENST00000560160,;SIX5,downstream_gene_variant,,ENST00000622857,;AC074212.5,upstream_gene_variant,,ENST00000559756,;	C	ENST00000457052	Transcript	synonymous_variant	1811/2749	1395/1917	465/638	S	tcG/tcC		1		1	BHMG1	HGNC	HGNC:44318	protein_coding	YES		ENSP00000402674	C9JSJ3		UPI0002840CC6	NM_001310124.1			12/15		Low_complexity_(Seg):seg																	LOW		SNV	5			1										PASS		rs755841213	.												C	2	2	105	45761828	45761828	G	C	1	0	0	0	0	0	0	0	1	1573	1103	39	4		4	BHMG1	19	45761828	Silent	SNP	G	C3N-02586_TP	1847123	45761828	12855788	108	31897											
SYMPK	0	.	GRCh38	chr19	45816154	45816154	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggccggggtgctggggcCggggccaaggtcaggggctc	3	4	24	10	2	1	0	1	0	0	0	2	0	1	0	3	11	1	2	3	11	1	0	rs563199567		C3N-02586_TP	C3N-02586_NB	C	C																c.3384G>T	p.=	p.P1128P	ENST00000245934	26/27	54	37	17	79	79	0	strelka-varscan-mutect	SYMPK,synonymous_variant,p.=,ENST00000245934,NM_004819.2;SYMPK,downstream_gene_variant,,ENST00000599814,;SYMPK,downstream_gene_variant,,ENST00000599460,;RSPH6A,upstream_gene_variant,,ENST00000221538,NM_030785.3;RSPH6A,upstream_gene_variant,,ENST00000597055,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598155,;SYMPK,3_prime_UTR_variant,,ENST00000600237,;SYMPK,3_prime_UTR_variant,,ENST00000596824,;SYMPK,non_coding_transcript_exon_variant,,ENST00000593504,;SYMPK,non_coding_transcript_exon_variant,,ENST00000598364,;SYMPK,downstream_gene_variant,,ENST00000598329,;	A	ENST00000245934	Transcript	synonymous_variant	3629/4195	3384/3825	1128/1274	P	ccG/ccT	rs563199567	1		-1	SYMPK	HGNC	HGNC:22935	protein_coding	YES	CCDS12676.2	ENSP00000245934	Q92797	A0A024R0R6	UPI00002026C0	NM_004819.2			26/27		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs563199567	.												A	2	1	105	45816154	45816154	C	A	1	0	0	0	0	0	0	0	1	15829	639	23	1		1	SYMPK	19	45816154	Silent	SNP	C	C3N-02586_TP	54326	45816154	12801462	109	31898											
ZNF808	0	.	GRCh38	chr19	52553309	52553309	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgaagcacccacgacaaaAataaaaaagttgactggtag	19	6	8	8	1	0	2	0	2	0	0	0	3	0	2	1	1	1	3	1	1	7	3	novel		C3N-02586_TP	C3N-02586_NB	A	A																c.393A>G	p.=	p.K131K	ENST00000359798	5/5	137	103	34	269	269	0	strelka-varscan-mutect	ZNF808,synonymous_variant,p.=,ENST00000359798,NM_001321424.1,NM_001039886.3;ZNF808,synonymous_variant,p.=,ENST00000465448,;ZNF808,synonymous_variant,p.=,ENST00000461321,;ZNF808,synonymous_variant,p.=,ENST00000486474,;ZNF808,upstream_gene_variant,,ENST00000611267,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,synonymous_variant,p.=,ENST00000487863,;	G	ENST00000359798	Transcript	synonymous_variant	573/3600	393/2712	131/903	K	aaA/aaG		1		1	ZNF808	HGNC	HGNC:33230	protein_coding	YES	CCDS46167.1	ENSP00000352846	Q8N4W9		UPI000041AA80	NM_001321424.1,NM_001039886.3			5/5																			LOW	1	SNV	5			1										PASS		.	.												G	2	3	105	52553309	52553309	A	G	1	0	0	0	0	0	0	0	1	18758	11	1	5		5	ZNF808	19	52553309	Silent	SNP	A	C3N-02586_TP	6737155	52553309	6064307	110	31899											
NLRP13	0	.	GRCh38	chr19	55898895	55898895	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatggctgagggcattagcCagctctccacagccctctct	7	11	9	14	0	2	1	0	1	2	0	4	1	2	1	3	2	3	3	3	2	2	2	rs749721321		C3N-02586_TP	C3N-02586_NB	C	C																c.2832G>T	p.=	p.L944L	ENST00000342929	10/11	94	61	33	218	218	0	strelka-varscan-mutect	NLRP13,synonymous_variant,p.=,ENST00000588751,NM_001321057.1;NLRP13,synonymous_variant,p.=,ENST00000342929,NM_176810.2;	A	ENST00000342929	Transcript	synonymous_variant	2832/3132	2832/3132	944/1043	L	ctG/ctT	rs749721321	1		-1	NLRP13	HGNC	HGNC:22937	protein_coding	YES	CCDS33119.1	ENSP00000343891	Q86W25		UPI00001AEEC8	NM_176810.2			10/11		Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF10,SMART_domains:SM00368,Superfamily_domains:SSF52047																	LOW	1	SNV	1			1										PASS		rs749721321	.												A	2	1	105	55898895	55898895	C	A	1	0	0	0	0	0	0	0	1	10512	581	21	2		2	NLRP13	19	55898895	Silent	SNP	C	C3N-02586_TP	3345586	55898895	2718721	111	31900											
EPB41L1	0	.	GRCh38	chr20	36190291	36190291	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccagtatgagcaatttgaGagcacaattggctttaagct	12	13	9	7	0	0	2	0	2	0	1	1	3	1	2	1	1	3	5	1	1	4	6	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.1041G>C	p.Glu347Asp	p.E347D	ENST00000338074	10/22	343	288	55	626	626	0	strelka-varscan-mutect	EPB41L1,missense_variant,p.Glu347Asp,ENST00000373946,NM_001258329.1;EPB41L1,missense_variant,p.Glu347Asp,ENST00000338074,NM_012156.2;EPB41L1,missense_variant,p.Glu285Asp,ENST00000441639,NM_177996.2;EPB41L1,missense_variant,p.Glu250Asp,ENST00000373950,;EPB41L1,missense_variant,p.Glu285Asp,ENST00000202028,NM_001258331.1;EPB41L1,missense_variant,p.Glu316Asp,ENST00000628415,NM_001258330.1;EPB41L1,missense_variant,p.Glu347Asp,ENST00000373941,;EPB41L1,downstream_gene_variant,,ENST00000430276,;EPB41L1,upstream_gene_variant,,ENST00000451082,;EPB41L1,downstream_gene_variant,,ENST00000373945,;	C	ENST00000338074	Transcript	missense_variant	1202/6266	1041/2646	347/881	E/D	gaG/gaC		1		1	EPB41L1	HGNC	HGNC:3378	protein_coding	YES	CCDS13271.1	ENSP00000337168	Q9H4G0		UPI0000129AF8	NM_012156.2	deleterious(0)		10/22		PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF24,PIRSF_domain:PIRSF002304,Gene3D:2.30.29.30,Pfam_domain:PF09380,SMART_domains:SM01196,Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	105	36190291	36190291	G	C	1	0	0	0	0	1	0	0	0	4999	933	33	4		4	EPB41L1	20	36190291	Missense_Mutation	SNP	G	C3N-02586_TP		36190291	28253876	112	31901											
SLC12A5	0	.	GRCh38	chr20	46043214	46043214	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggagtgggatgacctcGgtgggcctggccgatggcac	7	6	19	9	2	0	2	0	1	0	1	1	6	0	4	3	6	0	1	3	6	0	0	rs6073997		C3N-02586_TP	C3N-02586_NB	G	G																c.1197G>C	p.=	p.S399S	ENST00000454036	9/26	208	122	86	365	365	0	strelka-varscan-mutect	SLC12A5,synonymous_variant,p.=,ENST00000243964,NM_020708.4;SLC12A5,synonymous_variant,p.=,ENST00000454036,NM_001134771.1;SLC12A5,synonymous_variant,p.=,ENST00000616201,;SLC12A5,3_prime_UTR_variant,,ENST00000616933,;SLC12A5,intron_variant,,ENST00000616202,;SLC12A5,intron_variant,,ENST00000626937,;SLC12A5,non_coding_transcript_exon_variant,,ENST00000608594,;SLC12A5,intron_variant,,ENST00000539566,;SLC12A5,downstream_gene_variant,,ENST00000629054,;SLC12A5,downstream_gene_variant,,ENST00000625683,;SLC12A5,downstream_gene_variant,,ENST00000372315,;SLC12A5,downstream_gene_variant,,ENST00000622711,;SLC12A5,upstream_gene_variant,,ENST00000626144,;	C	ENST00000454036	Transcript	synonymous_variant	1273/3593	1197/3420	399/1139	S	tcG/tcC	rs6073997,COSM3294258	1		1	SLC12A5	HGNC	HGNC:13818	protein_coding	YES	CCDS46610.1	ENSP00000387694	Q9H2X9		UPI00015F4605	NM_001134771.1			9/26		TIGRFAM_domain:TIGR00930											0,1						LOW	1	SNV	5		0,1	1										PASS		rs6073997	.												C	2	2	105	46043214	46043214	G	C	1	0	0	0	0	0	0	0	1	14651	1103	39	4		4	SLC12A5	20	46043214	Silent	SNP	G	C3N-02586_TP	9852923	46043214	18400953	113	31902											
KRTAP26-1	0	.	GRCh38	chr21	30319925	30319925	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtaagtagaggacatcTccacagctcacgctggtagg	10	8	14	9	1	2	1	1	0	1	1	3	2	2	2	1	4	1	5	1	4	3	3			C3N-02586_TP	C3N-02586_NB	T	T																c.111A>T	p.=	p.G37G	ENST00000360542	1/1	148	88	60	276	276	0	strelka-varscan-mutect	KRTAP26-1,synonymous_variant,p.=,ENST00000360542,NM_203405.1;	A	ENST00000360542	Transcript	synonymous_variant	392/1193	111/633	37/210	G	ggA/ggT	COSM3389963	1		-1	KRTAP26-1	HGNC	HGNC:33760	protein_coding	YES	CCDS13588.1	ENSP00000353742	Q6PEX3		UPI00001CE052	NM_203405.1			1/1		hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF6,Pfam_domain:PF05287											1						LOW	1	SNV			1	1										PASS		.	.												A	2	1	105	30319925	30319925	T	A	1	0	0	0	0	0	0	0	1	8435	1538	54	4		4	KRTAP26-1	21	30319925	Silent	SNP	T	C3N-02586_TP		30319925	16390058	114	31903											
POTEH	0	.	GRCh38	chr22	15698707	15698707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtacatgagcaaaaacagCaagtggtgaaatttttaatc	16	11	9	5	0	0	2	0	2	0	0	1	2	0	2	0	1	4	3	0	1	6	4	rs775983930		C3N-02586_TP	C3N-02586_NB	C	C																c.967C>A	p.Gln323Lys	p.Q323K	ENST00000343518	4/11	960	908	52	2733	2732	1	varscan-mutect	POTEH,missense_variant,p.Gln323Lys,ENST00000343518,NM_001136213.1;POTEH,missense_variant,p.Gln286Lys,ENST00000621704,;RNU6-816P,upstream_gene_variant,,ENST00000390914,;POTEH-AS1,downstream_gene_variant,,ENST00000422014,;POTEH,3_prime_UTR_variant,,ENST00000452800,;	A	ENST00000343518	Transcript	missense_variant	1019/1928	967/1638	323/545	Q/K	Caa/Aaa	rs775983930	1		1	POTEH	HGNC	HGNC:133	protein_coding	YES	CCDS74808.1	ENSP00000340610	Q6S545		UPI0000E5A425	NM_001136213.1	tolerated(0.33)		4/11		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE		SNV	5			1										PASS		rs775983930	.												A	3	1	105	15698707	15698707	C	A	1	0	0	0	0	1	0	0	0	12381	711	25	2		2	POTEH	22	15698707	Missense_Mutation	SNP	C	C3N-02586_TP		15698707	35119761	115	31904											
SGSM1	0	.	GRCh38	chr22	24867160	24867160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgcactgccaccagcaaGgtagggactgtggggacagg	10	5	15	11	0	0	0	0	0	0	0	0	2	0	2	3	5	3	3	3	5	2	1	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.994G>T	p.Val332Phe	p.V332F	ENST00000400359	10/26	366	137	229	540	540	0	strelka-varscan-mutect	SGSM1,missense_variant,p.Val332Phe,ENST00000400358,NM_001098497.2;SGSM1,missense_variant,p.Val332Phe,ENST00000610372,NM_133454.3,NM_001098498.2;SGSM1,missense_variant,p.Val332Phe,ENST00000400359,NM_001039948.3;SGSM1,splice_region_variant,,ENST00000473458,;SGSM1,splice_region_variant,,ENST00000480523,;	T	ENST00000400359	Transcript	missense_variant,splice_region_variant	1001/4317	994/3447	332/1148	V/F	Gtt/Ttt		1		1	SGSM1	HGNC	HGNC:29410	protein_coding	YES	CCDS46674.1	ENSP00000383212	Q2NKQ1		UPI00006EB130	NM_001039948.3	tolerated(0.21)		10/26		hmmpanther:PTHR22957:SF187,hmmpanther:PTHR22957																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	105	24867160	24867160	G	T	1	0	0	0	0	1	0	0	0	14480	1014	35	2		2	SGSM1	22	24867160	Missense_Mutation	SNP	G	C3N-02586_TP	9168453	24867160	25951308	116	31905											
SMC1B	0	.	GRCh38	chr22	45372230	45372230	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgagtcgtgtttgagtTccctgtatcagggtctgtat	6	18	11	6	1	2	2	1	2	1	0	4	2	3	2	1	1	0	4	1	1	3	6	novel		C3N-02586_TP	C3N-02586_NB	T	T																c.2121A>G	p.=	p.G707G	ENST00000357450	13/25	105	43	62	303	303	0	strelka-varscan-mutect	SMC1B,synonymous_variant,p.=,ENST00000357450,NM_148674.4;SMC1B,synonymous_variant,p.=,ENST00000404354,NM_001291501.1;	C	ENST00000357450	Transcript	synonymous_variant	2121/4201	2121/3708	707/1235	G	ggA/ggG		1		-1	SMC1B	HGNC	HGNC:11112	protein_coding	YES	CCDS43027.1	ENSP00000350036	Q8NDV3		UPI0004438059	NM_148674.4			13/25		Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF147																	LOW	1	SNV	5			1										PASS		.	.												C	2	2	105	45372230	45372230	T	C	1	0	0	0	0	0	0	0	1	15075	1770	62	5		5	SMC1B	22	45372230	Silent	SNP	T	C3N-02586_TP	20505070	45372230	5446238	117	31906											
DCAF8L2	0	.	GRCh38	chrX	27748500	27748500	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgcagtggcctagatcaTgatgtcaagatctggacacc	10	9	12	10	1	3	3	2	1	1	2	3	4	3	4	2	2	1	1	2	2	2	1			C3N-02586_TP	C3N-02586_NB	T	T																c.1605T>A	p.His535Gln	p.H535Q	ENST00000451261	5/5	150	85	65	307	307	0	strelka-varscan-mutect	DCAF8L2,missense_variant,p.His535Gln,ENST00000451261,;DCAF8L2,missense_variant,p.His535Gln,ENST00000545306,NM_001136533.1;DCAF8L2,downstream_gene_variant,,ENST00000431122,;DCAF8L2,downstream_gene_variant,,ENST00000583068,;	A	ENST00000451261	Transcript	missense_variant	2004/2295	1605/1896	535/631	H/Q	caT/caA	COSM4966667,COSM4966668	1		1	DCAF8L2	HGNC	HGNC:31811	protein_coding	YES	CCDS59162.1	ENSP00000462745	P0C7V8		UPI000183CBD9		tolerated(0.06)		5/5		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50294,hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF42,SMART_domains:SM00320,Superfamily_domains:SSF50978											1,1						MODERATE	1	SNV	4		1,1	1										PASS		.	.												A	3	1	105	27748500	27748500	T	A	1	0	0	0	0	1	0	0	0	4079	1461	51	4		4	DCAF8L2	23	27748500	Missense_Mutation	SNP	T	C3N-02586_TP		27748500	128292395	118	31907											
FAM47A	0	.	GRCh38	chrX	34132015	34132015	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcccgcttttggggtcAgcttggggacctctgagaga	5	12	14	10	1	3	2	1	1	2	1	3	4	3	3	2	4	2	2	2	4	0	4	novel		C3N-02586_TP	C3N-02586_NB	A	A																c.264T>A	p.=	p.A88A	ENST00000346193	1/1	76	43	33	162	162	0	strelka-varscan-mutect	FAM47A,synonymous_variant,p.=,ENST00000346193,NM_203408.3;FAM47A,synonymous_variant,p.=,ENST00000613251,;	T	ENST00000346193	Transcript	synonymous_variant	297/2556	264/2376	88/791	A	gcT/gcA		1		-1	FAM47A	HGNC	HGNC:29962	protein_coding	YES	CCDS43926.1	ENSP00000345029	Q5JRC9		UPI000013F1F4	NM_203408.3			1/1		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF200,Pfam_domain:PF14642																	LOW	1	SNV				1										PASS		.	.												T	2	4	105	34132015	34132015	A	T	1	0	0	0	0	0	0	0	1	5447	175	7	4		4	FAM47A	23	34132015	Silent	SNP	A	C3N-02586_TP	6383515	34132015	121908880	119	31908											
GAGE2A	0	.	GRCh38	chrX	49591306	49591306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacaggatgagggagcatCtgcaggtcaaggtgagggaa	12	5	19	5	0	2	2	1	2	1	0	2	6	2	6	0	6	2	2	0	6	2	0	rs782136866		C3N-02586_TP	C3N-02586_NB	C	C																c.191C>A	p.Ser64Tyr	p.S64Y	ENST00000362097	3/5	643	547	96	1144	1143	1	varscan-mutect	GAGE2A,missense_variant,p.Ser64Tyr,ENST00000362097,NM_001472.2,NM_012196.1,NM_001127212.1;GAGE1,intron_variant,,ENST00000610680,NM_001098405.2,NM_001127200.2;GAGE12H,downstream_gene_variant,,ENST00000381722,NM_001098410.1;	A	ENST00000362097	Transcript	missense_variant	274/528	191/351	64/116	S/Y	tCt/tAt	rs782136866	1		1	GAGE2A	HGNC	HGNC:4099	protein_coding	YES	CCDS48114.1	ENSP00000355421	Q6NT46		UPI00001AF5C0	NM_001472.2,NM_012196.1,NM_001127212.1	deleterious(0)		3/5		Pfam_domain:PF05831,hmmpanther:PTHR14047,hmmpanther:PTHR14047:SF6,SMART_domains:SM01379																	MODERATE	1	SNV	1			1										PASS		rs782136866	.												A	3	1	105	49591306	49591306	C	A	1	0	0	0	0	1	0	0	0	6062	913	32	2		2	GAGE2A	23	49591306	Missense_Mutation	SNP	C	C3N-02586_TP	15459291	49591306	106449589	120	31909											
LPAR4	0	.	GRCh38	chrX	78755767	78755767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccaatcaccttgtgccttGcaactctgaactgttgtttt	8	15	6	12	0	2	1	1	1	1	0	2	1	2	1	3	0	4	3	3	0	3	5	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.898G>T	p.Ala300Ser	p.A300S	ENST00000435339	2/2	168	91	77	346	346	0	strelka-varscan-mutect	LPAR4,missense_variant,p.Ala300Ser,ENST00000435339,NM_005296.2;LPAR4,missense_variant,p.Ala300Ser,ENST00000614823,NM_001278000.1;LPAR4,downstream_gene_variant,,ENST00000514744,;LPAR4,downstream_gene_variant,,ENST00000610214,;LPAR4,downstream_gene_variant,,ENST00000607964,;	T	ENST00000435339	Transcript	missense_variant	1284/2611	898/1113	300/370	A/S	Gca/Tca		1		1	LPAR4	HGNC	HGNC:4478	protein_coding	YES	CCDS14441.1	ENSP00000408205	Q99677		UPI000005041D	NM_005296.2	deleterious(0.01)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF41,SMART_domains:SM01381,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	105	78755767	78755767	G	T	1	0	0	0	0	1	0	0	0	8810	1319	46	2		2	LPAR4	23	78755767	Missense_Mutation	SNP	G	C3N-02586_TP	29164461	78755767	77285128	121	31910											
P2RY10	0	.	GRCh38	chrX	78960784	78960784	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcatgtattatctttaccCctccggatttactattacat	9	17	4	11	1	2	0	1	0	1	0	3	1	3	1	3	1	3	2	3	1	6	8			C3N-02586_TP	C3N-02586_NB	C	C																c.264C>A	p.=	p.P88P	ENST00000171757	4/4	193	95	98	290	290	0	strelka-varscan-mutect	P2RY10,synonymous_variant,p.=,ENST00000171757,NM_014499.2;P2RY10,synonymous_variant,p.=,ENST00000544091,NM_198333.1;P2RY10,non_coding_transcript_exon_variant,,ENST00000475374,;P2RY10,non_coding_transcript_exon_variant,,ENST00000461541,;	A	ENST00000171757	Transcript	synonymous_variant	544/1714	264/1020	88/339	P	ccC/ccA	COSM3563623	1		1	P2RY10	HGNC	HGNC:19906	protein_coding	YES	CCDS14442.1	ENSP00000171757	O00398		UPI0000050471	NM_014499.2			4/4		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24232:SF47,hmmpanther:PTHR24232,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR01157											1						LOW	1	SNV	1		1	1										PASS		.	.												A	2	1	105	78960784	78960784	C	A	1	0	0	0	0	0	0	0	1	11420	610	22	2		2	P2RY10	23	78960784	Silent	SNP	C	C3N-02586_TP	205017	78960784	77080111	122	31911											
PAK3	0	.	GRCh38	chrX	111163568	111163568	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttggtttttttagatctatActcgttctgtggttgaatcc	6	21	8	6	1	2	2	0	1	2	1	4	2	3	2	1	2	1	3	1	2	4	9			C3N-02586_TP	C3N-02586_NB	A	A																c.715A>T	p.Thr239Ser	p.T239S	ENST00000360648	8/16	197	113	84	253	252	1	strelka-varscan-mutect	PAK3,missense_variant,p.Thr203Ser,ENST00000372007,NM_001324327.1,NM_001324326.1,NM_001324331.1,NM_001324333.1,NM_001324332.1,NM_001324334.1,NM_001324328.1,NM_001324330.1,NM_001324325.1,NM_002578.3;PAK3,missense_variant,p.Thr224Ser,ENST00000519681,;PAK3,missense_variant,p.Thr218Ser,ENST00000372010,;PAK3,missense_variant,p.Thr203Ser,ENST00000446737,NM_001128166.1;PAK3,missense_variant,p.Thr203Ser,ENST00000425146,NM_001128167.1;PAK3,missense_variant,p.Thr239Ser,ENST00000360648,NM_001128168.1;PAK3,missense_variant,p.Thr224Ser,ENST00000417227,NM_001128172.1;PAK3,missense_variant,p.Thr218Ser,ENST00000262836,NM_001128173.1;PAK3,missense_variant,p.Thr202Ser,ENST00000620137,;PAK3,missense_variant,p.Thr239Ser,ENST00000518291,;	T	ENST00000360648	Transcript	missense_variant	742/2241	715/1743	239/580	T/S	Act/Tct	COSM1740779,COSM1740780	1		1	PAK3	HGNC	HGNC:8592	protein_coding	YES	CCDS48151.1	ENSP00000353864	O75914		UPI0000D61DBC	NM_001128168.1	tolerated(0.07)		8/16		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF250											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												T	3	4	105	111163568	111163568	A	T	1	0	0	0	0	1	0	0	0	11482	391	14	4		4	PAK3	23	111163568	Missense_Mutation	SNP	A	C3N-02586_TP	32202784	111163568	44877327	123	31912											
NKRF	0	.	GRCh38	chrX	119589411	119589411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccttcctgtttgagctGatctagtaggtcttccttcc	4	17	9	11	0	2	2	0	2	2	0	5	2	5	2	4	2	1	3	4	2	2	7	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.2059C>A	p.Gln687Lys	p.Q687K	ENST00000542113	4/4	98	48	50	91	91	0	strelka-varscan-mutect	NKRF,missense_variant,p.Gln672Lys,ENST00000371527,NM_001173488.1;NKRF,missense_variant,p.Gln687Lys,ENST00000542113,NM_001173487.1;NKRF,missense_variant,p.Gln672Lys,ENST00000304449,NM_017544.3;UBE2A,intron_variant,,ENST00000631185,;UBE2A,downstream_gene_variant,,ENST00000371558,NM_003336.3;UBE2A,downstream_gene_variant,,ENST00000630695,;NKRF,intron_variant,,ENST00000487600,;UBE2A,downstream_gene_variant,,ENST00000371569,;	T	ENST00000542113	Transcript	missense_variant	2281/3351	2059/2118	687/705	Q/K	Cag/Aag		1		-1	NKRF	HGNC	HGNC:19374	protein_coding	YES	CCDS55486.1	ENSP00000442308	O15226		UPI0000211E22	NM_001173487.1	deleterious(0.01)		4/4		hmmpanther:PTHR16148,hmmpanther:PTHR16148:SF6																	MODERATE		SNV	3			1										PASS		.	.												T	3	4	105	119589411	119589411	G	T	1	0	0	0	0	1	0	0	0	10482	1299	45	2		2	NKRF	23	119589411	Missense_Mutation	SNP	G	C3N-02586_TP	8425843	119589411	36451484	124	31913											
SPANXN3	0	.	GRCh38	chrX	143508874	143508874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctaggtcttcatcctcctGtgaggatccttcagatgagt	7	13	10	11	0	3	3	2	2	1	1	6	4	6	4	4	2	0	0	4	2	1	3	novel		C3N-02586_TP	C3N-02586_NB	G	G																c.367C>A	p.Gln123Lys	p.Q123K	ENST00000370503	2/2	143	107	36	147	147	0	strelka-varscan-mutect	SPANXN3,missense_variant,p.Gln123Lys,ENST00000370503,NM_001009609.3;GS1-256O22.5,intron_variant,,ENST00000431432,;	T	ENST00000370503	Transcript	missense_variant	451/590	367/426	123/141	Q/K	Cag/Aag		1		-1	SPANXN3	HGNC	HGNC:33176	protein_coding	YES	CCDS35418.1	ENSP00000359534	Q5MJ09		UPI0000DA7993	NM_001009609.3	tolerated_low_confidence(0.06)		2/2		hmmpanther:PTHR23425,hmmpanther:PTHR23425:SF6,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	105	143508874	143508874	G	T	1	0	0	0	0	1	0	0	0	15323	1386	48	2		2	SPANXN3	23	143508874	Missense_Mutation	SNP	G	C3N-02586_TP	23919463	143508874	12532021	125	31914											
SPANXN1	0	.	GRCh38	chrX	145247635	145247635	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaagaggaagagccccTgtgaatccaacaatgaaaat	17	5	12	7	0	0	5	0	2	0	3	1	7	1	6	3	2	2	0	3	2	7	0	novel		C3N-02586_TP	C3N-02586_NB	T	T																c.49T>A	p.Cys17Ser	p.C17S	ENST00000370493	1/2	294	152	142	322	322	0	strelka-varscan-mutect	SPANXN1,missense_variant,p.Cys17Ser,ENST00000370493,NM_001009614.2;	A	ENST00000370493	Transcript	missense_variant	808/1276	49/219	17/72	C/S	Tgt/Agt		1		1	SPANXN1	HGNC	HGNC:33174	protein_coding	YES	CCDS35421.1	ENSP00000359524	Q5VSR9		UPI0000458AF7	NM_001009614.2	tolerated(0.09)		1/2		Pfam_domain:PF07458,hmmpanther:PTHR23425,hmmpanther:PTHR23425:SF7																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	105	145247635	145247635	T	A	1	0	0	0	0	1	0	0	0	15321	1580	55	4		4	SPANXN1	23	145247635	Missense_Mutation	SNP	T	C3N-02586_TP	1738761	145247635	10793260	126	31915											
MPV17	0	.	GRCh38	chr2	27313072	27313072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccccgcctctccaccagCtgctgtgagataatgtcacc	9	8	8	16	1	2	2	1	1	1	2	3	3	2	2	6	0	2	2	6	0	1	1			C3N-02587_TP	C3N-02587_NB	C	C																c.108G>T	p.Gln36His	p.Q36H	ENST00000380044	3/8	591	501	90	804	803	1	strelka-varscan	MPV17,missense_variant,p.Gln36His,ENST00000380044,NM_002437.4;MPV17,missense_variant,p.Gln36His,ENST00000233545,;MPV17,missense_variant,p.Gln36His,ENST00000402310,;MPV17,missense_variant,p.Gln51His,ENST00000405983,;MPV17,missense_variant,p.Ala25Ser,ENST00000402722,;MPV17,missense_variant,p.Gln36His,ENST00000403262,;MPV17,missense_variant,p.Gln36His,ENST00000405076,;MPV17,missense_variant,p.Gln10His,ENST00000428910,;MPV17,missense_variant,p.Gln13His,ENST00000430991,;MPV17,intron_variant,,ENST00000357186,;UCN,upstream_gene_variant,,ENST00000296099,NM_003353.2;MPV17,downstream_gene_variant,,ENST00000399052,;MPV17,upstream_gene_variant,,ENST00000620797,;MPV17,missense_variant,p.Ala25Ser,ENST00000426513,;MPV17,splice_region_variant,,ENST00000621470,;MPV17,non_coding_transcript_exon_variant,,ENST00000616707,;MPV17,non_coding_transcript_exon_variant,,ENST00000617583,;MPV17,non_coding_transcript_exon_variant,,ENST00000621183,;MPV17,non_coding_transcript_exon_variant,,ENST00000622003,;MPV17,non_coding_transcript_exon_variant,,ENST00000616446,;MPV17,intron_variant,,ENST00000415514,;MPV17,downstream_gene_variant,,ENST00000486898,;MPV17,upstream_gene_variant,,ENST00000475085,;	A	ENST00000380044	Transcript	missense_variant	164/1005	108/531	36/176	Q/H	caG/caT	COSM4392706,COSM4392707	1		-1	MPV17	HGNC	HGNC:7224	protein_coding	YES	CCDS1748.1	ENSP00000369383	P39210	A0A0S2Z3Z9	UPI000012F4BD	NM_002437.4	deleterious(0.03)		3/8		hmmpanther:PTHR11266											1,1						MODERATE	1	SNV	1		1,1	1										PASS		.	.												A	3	1	106	27313072	27313072	C	A	1	0	0	0	0	1	0	0	0	9711	811	28	2		2	MPV17	2	27313072	Missense_Mutation	SNP	C	C3N-02587_TP		27313072	214880457	1	31916											
EML6	0	.	GRCh38	chr2	54928690	54928690	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatttatgctgtgagcAtcagggaaatggaaggcacc	13	8	12	8	0	1	2	1	1	0	1	1	4	1	4	2	3	2	3	2	3	4	2	rs574788707		C3N-02587_TP	C3N-02587_NB	A	A																c.3943A>T	p.Ile1315Phe	p.I1315F	ENST00000356458	27/41	375	311	64	495	495	0	strelka-varscan	EML6,missense_variant,p.Ile1315Phe,ENST00000356458,NM_001039753.2;	T	ENST00000356458	Transcript	missense_variant	4463/8320	3943/5877	1315/1958	I/F	Atc/Ttc	rs574788707	1		1	EML6	HGNC	HGNC:35412	protein_coding	YES	CCDS46286.1	ENSP00000348842	Q6ZMW3		UPI00006C0432	NM_001039753.2	deleterious(0.03)		27/41																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	106	54928690	54928690	A	T	1	0	0	0	0	1	0	0	0	4944	217	8	4		4	EML6	2	54928690	Missense_Mutation	SNP	A	C3N-02587_TP	27615618	54928690	187264839	2	31917											
MST1R	0	.	GRCh38	chr3	49899247	49899247	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctggtgttggggctgAgggcttccaggccaggctgg	4	8	20	9	0	0	1	0	1	0	0	1	1	1	1	2	8	1	6	2	8	0	2	novel		C3N-02587_TP	C3N-02587_NB	A	A																c.1247T>G	p.Leu416Arg	p.L416R	ENST00000296474	2/20	194	160	34	264	264	0	strelka-varscan-mutect	MST1R,missense_variant,p.Leu416Arg,ENST00000296474,NM_002447.2;MST1R,missense_variant,p.Leu416Arg,ENST00000344206,NM_001244937.1;MST1R,intron_variant,,ENST00000621387,NM_001318913.1;MST1R,intron_variant,,ENST00000613534,;MST1R,intron_variant,,ENST00000612032,;MST1R,upstream_gene_variant,,ENST00000434765,;MST1R,upstream_gene_variant,,ENST00000440292,;CTD-2330K9.3,upstream_gene_variant,,ENST00000419183,;CTD-2330K9.2,upstream_gene_variant,,ENST00000435478,;CTD-2330K9.3,upstream_gene_variant,,ENST00000424174,;CTD-2330K9.3,upstream_gene_variant,,ENST00000412015,;MST1R,missense_variant,p.Leu416Arg,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000468525,;MST1R,non_coding_transcript_exon_variant,,ENST00000485044,;MST1R,non_coding_transcript_exon_variant,,ENST00000497001,;MST1R,intron_variant,,ENST00000493535,;MST1R,upstream_gene_variant,,ENST00000467110,;MST1R,upstream_gene_variant,,ENST00000490053,;	C	ENST00000296474	Transcript	missense_variant	1275/4536	1247/4203	416/1400	L/R	cTc/cGc		1		-1	MST1R	HGNC	HGNC:7381	protein_coding	YES	CCDS2807.1	ENSP00000296474	Q04912		UPI000159688A	NM_002447.2	tolerated(0.2)		2/20		Gene3D:2.130.10.10,Pfam_domain:PF01403,PIRSF_domain:PIRSF000617,PROSITE_profiles:PS51004,SMART_domains:SM00630,Superfamily_domains:SSF101912																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	106	49899247	49899247	A	C	1	0	0	0	0	1	0	0	0	9876	304	11	5		5	MST1R	3	49899247	Missense_Mutation	SNP	A	C3N-02587_TP		49899247	148396312	3	31918											
NSUN3	0	.	GRCh38	chr3	94084329	94084329	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacctgaaaaaatattatctCctaaatgctgcttctcttct	13	15	3	10	0	3	1	0	1	3	0	5	1	3	1	2	0	3	2	2	0	8	5	novel		C3N-02587_TP	C3N-02587_NB	C	C																c.345C>A	p.=	p.L115L	ENST00000314622	3/6	322	275	47	544	544	0	strelka-varscan	NSUN3,synonymous_variant,p.=,ENST00000314622,NM_022072.3;NSUN3,downstream_gene_variant,,ENST00000485793,;NSUN3,downstream_gene_variant,,ENST00000468555,;NSUN3,downstream_gene_variant,,ENST00000494128,;NSUN3,non_coding_transcript_exon_variant,,ENST00000476588,;NSUN3,intron_variant,,ENST00000483378,;	A	ENST00000314622	Transcript	synonymous_variant	556/3289	345/1023	115/340	L	ctC/ctA		1		1	NSUN3	HGNC	HGNC:26208	protein_coding	YES	CCDS2927.1	ENSP00000318986	Q9H649		UPI00000373B2	NM_022072.3			3/6		PROSITE_profiles:PS51686,hmmpanther:PTHR22808,hmmpanther:PTHR22808:SF8,Superfamily_domains:SSF53335																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	106	94084329	94084329	C	A	1	0	0	0	0	0	0	0	1	10742	842	30	2		2	NSUN3	3	94084329	Silent	SNP	C	C3N-02587_TP	44185082	94084329	104211230	4	31919											
CDH18	0	.	GRCh38	chr5	19721362	19721362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaacctgttttagggtcgaCggagaagtagggttgtcctt	8	13	13	7	2	0	1	0	0	0	1	2	3	1	1	2	3	1	3	2	3	4	6	rs750768779		C3N-02587_TP	C3N-02587_NB	C	C																c.628G>A	p.Val210Ile	p.V210I	ENST00000507958	7/15	140	130	10	152	152	0	strelka-varscan	CDH18,missense_variant,p.Val210Ile,ENST00000507958,NM_001291956.1;CDH18,missense_variant,p.Val210Ile,ENST00000382275,NM_004934.3;CDH18,missense_variant,p.Val210Ile,ENST00000274170,;CDH18,missense_variant,p.Val210Ile,ENST00000506372,NM_001291957.1;CDH18,missense_variant,p.Val210Ile,ENST00000502796,NM_001167667.1;CDH18,missense_variant,p.Val210Ile,ENST00000511273,;CDH18,missense_variant,p.Val156Ile,ENST00000515257,;CDH18,downstream_gene_variant,,ENST00000508350,;	T	ENST00000507958	Transcript	missense_variant	1619/3542	628/2373	210/790	V/I	Gtc/Atc	rs750768779,COSM182561,COSM3854517	1		-1	CDH18	HGNC	HGNC:1757	protein_coding	YES	CCDS3889.1	ENSP00000425093	Q13634		UPI0000126DBD	NM_001291956.1	tolerated(0.1)		7/15		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313											0,1,1						MODERATE	1	SNV	2		0,1,1	1										PASS		.	.												T	3	4	106	19721362	19721362	C	T	1	0	0	0	0	1	0	0	0	2806	536	19	1		1	CDH18	5	19721362	Missense_Mutation	SNP	C	C3N-02587_TP		19721362	161816897	5	31920											
AKAP12	0	.	GRCh38	chr6	151305801	151305801	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcgtagctgagcaagatGagctcagcctccaggagggt	10	7	15	9	1	1	3	1	2	0	1	2	4	2	4	2	3	4	4	2	3	2	1	novel		C3N-02587_TP	C3N-02587_NB	G	G																c.217G>T	p.Glu73Ter	p.E73*	ENST00000402676	3/5	150	114	36	296	296	0	strelka-varscan-mutect	AKAP12,stop_gained,p.Glu73Ter,ENST00000402676,NM_005100.3;AKAP12,stop_gained,p.Glu73Ter,ENST00000253332,;	T	ENST00000402676	Transcript	stop_gained	457/8432	217/5349	73/1782	E/*	Gag/Tag		1		1	AKAP12	HGNC	HGNC:370	protein_coding	YES	CCDS5229.1	ENSP00000384537	Q02952		UPI000013CDC7	NM_005100.3			3/5		hmmpanther:PTHR23209																	HIGH	1	SNV	5			1										PASS		.	.												T	4	4	106	151305801	151305801	G	T	1	0	0	0	0	0	1	0	0	531	1291	45	2		2	AKAP12	6	151305801	Nonsense_Mutation	SNP	G	C3N-02587_TP		151305801	19500178	6	31921											
SFTPC	0	.	GRCh38	chr8	22164393	22164393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggagaaatgggagcttggGgagaggatgggagtgggcag	10	6	22	3	0	0	2	0	0	0	2	0	7	0	5	0	7	1	2	0	7	1	1	novel		C3N-02587_TP	C3N-02587_NB	G	G																c.404G>A	p.Gly135Glu	p.G135E	ENST00000520605	4/4	89	63	26	122	122	0	strelka-varscan-mutect	SFTPC,missense_variant,p.Gly135Glu,ENST00000520605,;SFTPC,3_prime_UTR_variant,,ENST00000521315,NM_001172357.1;SFTPC,3_prime_UTR_variant,,ENST00000318561,NM_001317778.1,NM_001317780.1,NM_003018.3,NM_001172410.1;SFTPC,3_prime_UTR_variant,,ENST00000524255,;BMP1,upstream_gene_variant,,ENST00000306385,NM_006129.4;BMP1,upstream_gene_variant,,ENST00000354870,;BMP1,upstream_gene_variant,,ENST00000306349,NM_001199.3;SFTPC,downstream_gene_variant,,ENST00000522109,;BMP1,upstream_gene_variant,,ENST00000397814,;SFTPC,downstream_gene_variant,,ENST00000437090,;SFTPC,downstream_gene_variant,,ENST00000523296,;CTD-2530N21.5,upstream_gene_variant,,ENST00000619681,;SFTPC,downstream_gene_variant,,ENST00000522880,;SFTPC,downstream_gene_variant,,ENST00000524318,;SFTPC,downstream_gene_variant,,ENST00000524350,;BMP1,upstream_gene_variant,,ENST00000520970,;BMP1,upstream_gene_variant,,ENST00000520626,;BMP1,upstream_gene_variant,,ENST00000520982,;BMP1,upstream_gene_variant,,ENST00000471755,;BMP1,upstream_gene_variant,,ENST00000518913,;BMP1,upstream_gene_variant,,ENST00000483364,;BMP1,upstream_gene_variant,,ENST00000521385,;BMP1,upstream_gene_variant,,ENST00000518656,;SFTPC,downstream_gene_variant,,ENST00000518615,;SFTPC,downstream_gene_variant,,ENST00000522630,;CTD-2530N21.5,upstream_gene_variant,,ENST00000314927,;	A	ENST00000520605	Transcript	missense_variant	433/519	404/468	135/155	G/E	gGg/gAg		1		1	SFTPC	HGNC	HGNC:10802	protein_coding			ENSP00000430266		E5RG20	UPI0000E5AE48		deleterious_low_confidence(0)		4/4		PROSITE_profiles:PS50869																	MODERATE		SNV	3			1										PASS		.	.												A	3	1	106	22164393	22164393	G	A	1	0	0	0	0	1	0	0	0	14452	1232	43	3		3	SFTPC	8	22164393	Missense_Mutation	SNP	G	C3N-02587_TP		22164393	122974243	7	31922											
ANKRD18B	0	.	GRCh38	chr9	33541183	33541184	+	Frame_Shift_Ins	INS	-	-	A																															cctgaaaatttgaaaaaaagINSaaaaaaaagaaaaaaattga																								rs755445457		C3N-02587_TP	C3N-02587_NB	-	-																c.853dupA	p.Arg285LysfsTer29	p.R285Kfs*29	ENST00000290943	7/16	137	119	18	282	281	1	sindel-varindel	ANKRD18B,frameshift_variant,p.Arg285LysfsTer29,ENST00000290943,NM_001244752.1;ANKRD18B,frameshift_variant,p.Arg36LysfsTer28,ENST00000605687,;ANKRD18B,non_coding_transcript_exon_variant,,ENST00000484634,;ANKRD18B,downstream_gene_variant,,ENST00000474881,;	A	ENST00000290943	Transcript	frameshift_variant	941-942/3773	845-846/3036	282/1011	R/RX	aga/agAa	rs755445457	1		1	ANKRD18B	HGNC	HGNC:23644	protein_coding	YES		ENSP00000290943	A2A2Z9		UPI0000EE047B	NM_001244752.1			7/16		Low_complexity_(Seg):seg,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF27,Coiled-coils_(Ncoils):Coil																	HIGH	1	insertion	5	8		1										PASS		.	.												A	7	5	106	33541183	33541183	-	A	1	0	1	1	0	0	0	0	0	749	942	33	0		0	ANKRD18B	9	33541183	Frame_Shift_Ins	INS	-	C3N-02587_TP		33541183	104853534	8	31923											
SPATA31D1	0	.	GRCh38	chr9	81992303	81992303	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttttcatagaccccagaaCgaggcacggtctcttttgcc	8	12	9	12	2	2	2	1	0	1	2	3	3	2	2	3	2	2	2	3	2	2	5	rs201473485		C3N-02587_TP	C3N-02587_NB	C	C																c.1833C>T	p.=	p.N611N	ENST00000344803	4/4	587	485	102	912	912	0	strelka-varscan-mutect	SPATA31D1,synonymous_variant,p.=,ENST00000344803,NM_001001670.2;RP11-15B24.5,intron_variant,,ENST00000637606,;SPATA31D1,downstream_gene_variant,,ENST00000603921,;	T	ENST00000344803	Transcript	synonymous_variant	1880/4833	1833/4731	611/1576	N	aaC/aaT	rs201473485,COSM1463220,COSM1463221	1		1	SPATA31D1	HGNC	HGNC:37283	protein_coding	YES	CCDS47986.1	ENSP00000341988	Q6ZQQ2		UPI00001C10A6	NM_001001670.2			4/4		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF12,Pfam_domain:PF14650											0,1,1						LOW	1	SNV	2		0,1,1	1										PASS		rs201473485	.												T	2	4	106	81992303	81992303	C	T	1	0	0	0	0	0	0	0	1	15347	535	19	1		1	SPATA31D1	9	81992303	Silent	SNP	C	C3N-02587_TP	48451120	81992303	56402414	9	31924											
AKNA	0	.	GRCh38	chr9	114357991	114357991	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagatgccgcttccctccAggctggtcatactactttgg	7	11	10	13	1	1	1	1	0	0	1	3	2	3	1	3	3	3	2	3	3	2	4	novel		C3N-02587_TP	C3N-02587_NB	A	A																c.2669T>C	p.Leu890Pro	p.L890P	ENST00000307564	12/22	76	58	18	97	97	0	strelka-varscan-mutect	AKNA,missense_variant,p.Leu890Pro,ENST00000307564,NM_030767.4;AKNA,missense_variant,p.Leu890Pro,ENST00000374088,NM_001317950.1,NM_001317952.1;AKNA,missense_variant,p.Leu809Pro,ENST00000374075,;AKNA,missense_variant,p.Leu350Pro,ENST00000223791,;AKNA,downstream_gene_variant,,ENST00000312033,;AKNA,non_coding_transcript_exon_variant,,ENST00000490767,;	G	ENST00000307564	Transcript	missense_variant	2831/7380	2669/4320	890/1439	L/P	cTg/cCg		1		-1	AKNA	HGNC	HGNC:24108	protein_coding	YES	CCDS6805.1	ENSP00000303769	Q7Z591		UPI000021168C	NM_030767.4	deleterious(0.02)		12/22		hmmpanther:PTHR21510:SF15,hmmpanther:PTHR21510																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	106	114357991	114357991	A	G	1	0	0	0	0	1	0	0	0	547	188	7	5		5	AKNA	9	114357991	Missense_Mutation	SNP	A	C3N-02587_TP	32365688	114357991	24036726	10	31925											
MRGPRX2	0	.	GRCh38	chr11	19056012	19056012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccagatgggccacaggaCggacaggcagcgctcggtgc	10	4	15	12	3	0	1	0	0	0	1	1	3	0	3	2	5	3	2	2	5	1	1	rs200815634		C3N-02587_TP	C3N-02587_NB	C	C																c.391G>A	p.Val131Ile	p.V131I	ENST00000329773	2/2	277	255	22	346	346	0	strelka-varscan-mutect	MRGPRX2,missense_variant,p.Val131Ile,ENST00000329773,NM_001303615.1,NM_054030.3;	T	ENST00000329773	Transcript	missense_variant	479/2036	391/993	131/330	V/I	Gtc/Atc	rs200815634	1		-1	MRGPRX2	HGNC	HGNC:17983	protein_coding	YES	CCDS7847.1	ENSP00000333800	Q96LB1		UPI0000038C81	NM_001303615.1,NM_054030.3	tolerated(0.18)		2/2		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR02108,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF35,Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1										PASS		rs200815634	.												T	3	4	106	19056012	19056012	C	T	1	0	0	0	0	1	0	0	0	9734	536	19	1		1	MRGPRX2	11	19056012	Missense_Mutation	SNP	C	C3N-02587_TP		19056012	116030610	11	31926											
ETS1	0	.	GRCh38	chr11	128486084	128486084	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactaatgaagtaatccgAggtatagcgggattctggat	12	12	11	6	2	1	1	0	1	1	0	2	4	2	3	1	3	2	2	1	3	6	6	novel		C3N-02587_TP	C3N-02587_NB	A	A																c.598T>G	p.Ser200Ala	p.S200A	ENST00000392668	6/10	213	139	74	271	270	1	strelka-varscan-mutect	ETS1,missense_variant,p.Ser200Ala,ENST00000392668,NM_001143820.1;ETS1,missense_variant,p.Ser156Ala,ENST00000526145,;ETS1,missense_variant,p.Ser156Ala,ENST00000319397,NM_005238.3;ETS1,missense_variant,p.Ser156Ala,ENST00000531611,;ETS1,intron_variant,,ENST00000535549,NM_001162422.1;ETS1,downstream_gene_variant,,ENST00000608978,;	C	ENST00000392668	Transcript	missense_variant	683/5139	598/1458	200/485	S/A	Tcg/Gcg		1		-1	ETS1	HGNC	HGNC:3488	protein_coding	YES	CCDS44767.1	ENSP00000376436	P14921		UPI00001BDB62	NM_001143820.1	tolerated(0.05)		6/10		hmmpanther:PTHR11849:SF209,hmmpanther:PTHR11849,PIRSF_domain:PIRSF001698																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	106	128486084	128486084	A	C	1	0	0	0	0	1	0	0	0	5139	304	11	5		5	ETS1	11	128486084	Missense_Mutation	SNP	A	C3N-02587_TP	109430072	128486084	6600538	12	31927											
STAT2	0	.	GRCh38	chr12	56348548	56348548	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcattccagagatcctTcaggtggtcatgtaccaact	10	11	7	13	0	3	1	3	0	0	1	5	2	5	1	4	2	2	1	4	2	2	3	novel		C3N-02587_TP	C3N-02587_NB	T	T																c.1705A>T	p.Lys569Ter	p.K569*	ENST00000314128	19/24	324	231	93	490	490	0	strelka-varscan-mutect	STAT2,stop_gained,p.Lys569Ter,ENST00000314128,NM_005419.3;STAT2,stop_gained,p.Lys565Ter,ENST00000557235,NM_198332.1;STAT2,downstream_gene_variant,,ENST00000418572,;RNU7-40P,downstream_gene_variant,,ENST00000516397,;STAT2,non_coding_transcript_exon_variant,,ENST00000556539,;STAT2,downstream_gene_variant,,ENST00000557252,;STAT2,downstream_gene_variant,,ENST00000557156,;STAT2,non_coding_transcript_exon_variant,,ENST00000557199,;STAT2,downstream_gene_variant,,ENST00000556140,;STAT2,downstream_gene_variant,,ENST00000555519,;STAT2,upstream_gene_variant,,ENST00000555488,;	A	ENST00000314128	Transcript	stop_gained	1729/3259	1705/2556	569/851	K/*	Aag/Tag		1		-1	STAT2	HGNC	HGNC:11363	protein_coding	YES	CCDS8917.1	ENSP00000315768	P52630	R9QE65	UPI00000473FC	NM_005419.3			19/24		Gene3D:1.10.238.10,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF41,Superfamily_domains:SSF55550																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	106	56348548	56348548	T	A	1	0	0	0	0	0	1	0	0	15641	1792	62	4		4	STAT2	12	56348548	Nonsense_Mutation	SNP	T	C3N-02587_TP		56348548	76926761	13	31928											
TDG	0	.	GRCh38	chr12	103984921	103984921	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacctacagcttgcccaagGtatgttactgtcctcattcc	8	13	7	13	0	1	1	1	1	0	0	3	1	3	1	4	1	4	3	4	1	4	5	novel		C3N-02587_TP	C3N-02587_NB	G	G																c.964+1G>A		p.X322_splice	ENST00000392872		46	42	4	63	63	0	varscan-mutect	TDG,splice_donor_variant,,ENST00000392872,NM_003211.4;TDG,splice_donor_variant,,ENST00000266775,;TDG,splice_donor_variant,,ENST00000544861,;GLT8D2,downstream_gene_variant,,ENST00000360814,NM_031302.3;GLT8D2,downstream_gene_variant,,ENST00000548660,;GLT8D2,downstream_gene_variant,,ENST00000546436,;TDG,downstream_gene_variant,,ENST00000537100,;TDG,downstream_gene_variant,,ENST00000436021,;TDG,upstream_gene_variant,,ENST00000536395,;TDG,splice_donor_variant,,ENST00000542926,;TDG,splice_donor_variant,,ENST00000540956,;TDG,downstream_gene_variant,,ENST00000544060,;TDG,downstream_gene_variant,,ENST00000545698,;	A	ENST00000392872	Transcript	splice_donor_variant	-/3251	964/1233	322/410				1		1	TDG	HGNC	HGNC:11700	protein_coding	YES	CCDS9095.1	ENSP00000376611	Q13569		UPI00000740E5	NM_003211.4				8/9																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	106	103984921	103984921	G	A	1	0	0	0	0	0	0	1	0	16133	1275	44	3		3	TDG	12	103984921	Splice_Site	SNP	G	C3N-02587_TP	47636373	103984921	29290388	14	31929											
GPR137C	0	.	GRCh38	chr14	52632298	52632298	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaattatggctgggataatCtttcagataaggtaaatacc	14	14	8	5	0	2	1	1	0	1	1	2	2	2	2	1	3	1	2	1	3	7	7	novel		C3N-02587_TP	C3N-02587_NB	C	C																c.856C>G	p.Leu286Val	p.L286V	ENST00000321662	4/7	160	129	31	196	195	1	strelka-varscan-mutect	GPR137C,missense_variant,p.Leu286Val,ENST00000321662,NM_001099652.1;GPR137C,missense_variant,p.Leu256Val,ENST00000542169,;GPR137C,downstream_gene_variant,,ENST00000555622,;GPR137C,non_coding_transcript_exon_variant,,ENST00000555369,;	G	ENST00000321662	Transcript	missense_variant	856/3888	856/1290	286/429	L/V	Ctt/Gtt		1		1	GPR137C	HGNC	HGNC:25445	protein_coding	YES	CCDS45106.1	ENSP00000315106	Q8N3F9		UPI0000043F5A	NM_001099652.1	tolerated(1)		4/7		hmmpanther:PTHR15146,hmmpanther:PTHR15146:SF1																	MODERATE	1	SNV	2			1										PASS		rs1471947612	.												G	3	3	106	52632298	52632298	C	G	1	0	0	0	0	1	0	0	0	6533	913	32	4		4	GPR137C	14	52632298	Missense_Mutation	SNP	C	C3N-02587_TP		52632298	54411420	15	31930											
AP4E1	0	.	GRCh38	chr15	50929161	50929161	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcatatatatcttagaaTgattaaggtaagttggaaat	15	15	8	3	0	1	2	0	1	1	1	1	3	1	3	0	2	1	3	0	2	8	8	novel		C3N-02587_TP	C3N-02587_NB	T	T																c.695T>A	p.Met232Lys	p.M232K	ENST00000261842	6/21	278	232	46	440	440	0	strelka-varscan-mutect	AP4E1,missense_variant,p.Met232Lys,ENST00000261842,NM_007347.4;AP4E1,missense_variant,p.Met157Lys,ENST00000560508,NM_001252127.1;AP4E1,missense_variant,p.Met232Lys,ENST00000558439,;AP4E1,missense_variant,p.Met157Lys,ENST00000561393,;AP4E1,missense_variant,p.Met232Lys,ENST00000561441,;	A	ENST00000261842	Transcript	missense_variant	801/6758	695/3414	232/1137	M/K	aTg/aAg		1		1	AP4E1	HGNC	HGNC:573	protein_coding	YES	CCDS32240.1	ENSP00000261842	Q9UPM8		UPI00001D89D8	NM_007347.4	deleterious(0)		6/21		hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF13,Pfam_domain:PF01602,PIRSF_domain:PIRSF037097,Gene3D:1.25.10.10,Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	106	50929161	50929161	T	A	1	0	0	0	0	1	0	0	0	868	1464	51	4		4	AP4E1	15	50929161	Missense_Mutation	SNP	T	C3N-02587_TP		50929161	51062028	16	31931											
BRCA1	0	.	GRCh38	chr17	43091337	43091337	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaagcagttcctttaactAtacttggaaatttgtaaaat	16	14	6	5	0	0	1	0	0	0	1	1	2	1	2	1	1	3	3	1	1	8	8	novel		C3N-02587_TP	C3N-02587_NB	A	A																c.4194T>A	p.Tyr1398Ter	p.Y1398*	ENST00000354071	10/10	44	40	4	91	90	1	varscan-mutect	BRCA1,stop_gained,p.Tyr1398Ter,ENST00000354071,;BRCA1,intron_variant,,ENST00000357654,NM_007294.3;BRCA1,intron_variant,,ENST00000471181,NM_007300.3;BRCA1,intron_variant,,ENST00000493795,NM_007297.3;BRCA1,intron_variant,,ENST00000352993,;BRCA1,intron_variant,,ENST00000468300,NM_007299.3;BRCA1,intron_variant,,ENST00000491747,NM_007298.3;BRCA1,intron_variant,,ENST00000478531,;BRCA1,intron_variant,,ENST00000493919,;BRCA1,intron_variant,,ENST00000484087,;BRCA1,intron_variant,,ENST00000591534,;BRCA1,intron_variant,,ENST00000487825,;BRCA1,intron_variant,,ENST00000586385,;BRCA1,intron_variant,,ENST00000461574,;BRCA1,intron_variant,,ENST00000591849,;BRCA1,downstream_gene_variant,,ENST00000634433,;BRCA1,downstream_gene_variant,,ENST00000470026,;BRCA1,downstream_gene_variant,,ENST00000477152,;BRCA1,downstream_gene_variant,,ENST00000494123,;BRCA1,downstream_gene_variant,,ENST00000473961,;BRCA1,downstream_gene_variant,,ENST00000497488,;BRCA1,downstream_gene_variant,,ENST00000476777,;BRCA1,intron_variant,,ENST00000461221,;BRCA1,downstream_gene_variant,,ENST00000492859,;BRCA1,downstream_gene_variant,,ENST00000412061,;	T	ENST00000354071	Transcript	stop_gained	4258/4497	4194/4200	1398/1399	Y/*	taT/taA		1		-1	BRCA1	HGNC	HGNC:1100	protein_coding			ENSP00000326002		Q5YLB2	UPI000044D375				10/10																			HIGH		SNV	1			1										PASS		.	.												T	4	4	106	43091337	43091337	A	T	1	0	0	0	0	0	1	0	0	1668	456	16	4		4	BRCA1	17	43091337	Nonsense_Mutation	SNP	A	C3N-02587_TP		43091337	40166104	17	31932											
SRSF1	0	.	GRCh38	chr17	58006482	58006483	+	Frame_Shift_Ins	INS	-	-	T																															ccacccgcagacggtacccaINStcgtaatcatagccgtcgcg																								novel		C3N-02587_TP	C3N-02587_NB	-	-																c.239dupA	p.Asp80GlufsTer41	p.D80Efs*41	ENST00000258962	2/4	127	96	31	232	232	0	sindel-varindel-pindel	SRSF1,frameshift_variant,p.Asp80GlufsTer41,ENST00000582730,NM_001078166.1;SRSF1,frameshift_variant,p.Asp80GlufsTer41,ENST00000258962,NM_006924.4;SRSF1,frameshift_variant,p.Asp80GlufsTer41,ENST00000584773,;SRSF1,intron_variant,,ENST00000585096,;RP11-159D12.5,upstream_gene_variant,,ENST00000578794,;RP11-159D12.6,upstream_gene_variant,,ENST00000624641,;SRSF1,upstream_gene_variant,,ENST00000581497,;SRSF1,frameshift_variant,p.Asp80GlufsTer41,ENST00000581979,;SRSF1,3_prime_UTR_variant,,ENST00000583741,;SRSF1,non_coding_transcript_exon_variant,,ENST00000578430,;SRSF1,upstream_gene_variant,,ENST00000584668,;	T	ENST00000258962	Transcript	frameshift_variant	448-449/1513	239-240/747	80/248	D/EX	gat/gaAt		1		-1	SRSF1	HGNC	HGNC:10780	protein_coding	YES	CCDS11600.1	ENSP00000258962	Q07955		UPI0000001220	NM_006924.4			2/4		Low_complexity_(Seg):seg,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF487,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928																	HIGH	1	insertion	1			1										PASS		.	.												T	7	5	106	58006482	58006482	-	T	1	0	1	1	0	0	0	0	0	15535	214	8	0		0	SRSF1	17	58006482	Frame_Shift_Ins	INS	-	C3N-02587_TP	14915145	58006482	25250959	18	31933											
MYO5B	0	.	GRCh38	chr18	49837734	49837734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgccatgctggaggagcGcttccggtagccggtgggct	5	9	16	11	3	1	0	0	0	1	0	2	2	2	2	3	5	4	4	3	5	1	2	rs780999931		C3N-02587_TP	C3N-02587_NB	G	G																c.4921C>A	p.Arg1641Ser	p.R1641S	ENST00000285039	37/40	418	310	108	542	542	0	strelka-varscan-mutect	MYO5B,missense_variant,p.Arg1641Ser,ENST00000285039,NM_001080467.2;MYO5B,missense_variant,p.Arg758Ser,ENST00000324581,;MYO5B,missense_variant,p.Arg211Ser,ENST00000592688,;SNHG22,intron_variant,,ENST00000589499,;SNHG22,upstream_gene_variant,,ENST00000617833,;RP11-886H22.1,upstream_gene_variant,,ENST00000590532,;	T	ENST00000285039	Transcript	missense_variant	5221/9505	4921/5547	1641/1848	R/S	Cgc/Agc	rs780999931	1		-1	MYO5B	HGNC	HGNC:7603	protein_coding	YES	CCDS42436.1	ENSP00000285039	Q9ULV0		UPI00001D7B21	NM_001080467.2	deleterious(0.02)		37/40		PROSITE_profiles:PS51126,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356																	MODERATE	1	SNV	1			1										PASS		rs780999931	.												T	3	4	106	49837734	49837734	G	T	1	0	0	0	0	1	0	0	0	10080	1087	38	1		1	MYO5B	18	49837734	Missense_Mutation	SNP	G	C3N-02587_TP		49837734	30535551	19	31934											
POLI	0	.	GRCh38	chr18	54269597	54269597	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcggcggcgacgacgaCgaggaagacgccgaggcctg	10	1	19	11	8	0	1	0	0	0	1	0	8	0	2	2	5	0	0	2	5	2	0	rs77607189		C3N-02587_TP	C3N-02587_NB	C	C																c.51C>G	p.Asp17Glu	p.D17E	ENST00000579534	1/10	74	69	5	104	103	1	varscan-mutect	POLI,missense_variant,p.Asp17Glu,ENST00000579534,NM_007195.2;POLI,missense_variant,p.Asp17Glu,ENST00000406285,;POLI,missense_variant,p.Asp16Glu,ENST00000577612,;POLI,5_prime_UTR_variant,,ENST00000579434,;POLI,5_prime_UTR_variant,,ENST00000583136,;POLI,upstream_gene_variant,,ENST00000217800,;POLI,upstream_gene_variant,,ENST00000580880,;RP11-850A17.1,non_coding_transcript_exon_variant,,ENST00000621167,;POLI,non_coding_transcript_exon_variant,,ENST00000577971,;	G	ENST00000579534	Transcript	missense_variant	194/6133	51/2223	17/740	D/E	gaC/gaG	rs77607189	1		1	POLI	HGNC	HGNC:9182	protein_coding	YES	CCDS11954.2	ENSP00000462664	Q9UNA4		UPI00004DDD95	NM_007195.2	tolerated(1)		1/10		hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF10,Low_complexity_(Seg):seg																	MODERATE	1	SNV	1			1										PASS		rs77607189	.												G	3	3	106	54269597	54269597	C	G	1	0	0	0	0	1	0	0	0	12313	535	19	4		4	POLI	18	54269597	Missense_Mutation	SNP	C	C3N-02587_TP	4431863	54269597	26103688	20	31935											
COL5A3	0	.	GRCh38	chr19	9968418	9968418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagggggtccctgcacGcctggcaacccctgatctcc	6	6	12	17	1	1	1	0	1	1	0	3	2	2	2	6	4	2	2	6	4	1	0	rs768598683		C3N-02587_TP	C3N-02587_NB	G	G																c.4281C>T	p.=	p.G1427G	ENST00000264828	59/67	153	127	26	209	209	0	strelka-varscan-mutect	COL5A3,synonymous_variant,p.=,ENST00000264828,NM_015719.3;COL5A3,non_coding_transcript_exon_variant,,ENST00000461214,;	A	ENST00000264828	Transcript	synonymous_variant	4367/6174	4281/5238	1427/1745	G	ggC/ggT	rs768598683,COSM1757000	1		-1	COL5A3	HGNC	HGNC:14864	protein_coding	YES	CCDS12222.1	ENSP00000264828	P25940		UPI00002032A3	NM_015719.3			59/67		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF516											0,1						LOW	1	SNV	1		0,1	1										PASS		rs768598683	.												A	2	1	106	9968418	9968418	G	A	1	0	0	0	0	0	0	0	1	3487	1074	38	1		1	COL5A3	19	9968418	Silent	SNP	G	C3N-02587_TP		9968418	48649198	21	31936											
ZNF729	0	.	GRCh38	chr19	22316367	22316367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatcttactagacataaaGcaattcatactggggagaaa	17	9	7	8	0	2	2	1	0	1	2	2	3	2	2	0	2	3	1	0	2	7	5	novel		C3N-02587_TP	C3N-02587_NB	G	G																c.2950G>T	p.Ala984Ser	p.A984S	ENST00000601693	4/4	126	101	25	387	387	0	strelka-varscan-mutect	ZNF729,missense_variant,p.Ala984Ser,ENST00000601693,NM_001242680.1;	T	ENST00000601693	Transcript	missense_variant	3068/3877	2950/3759	984/1252	A/S	Gca/Tca		1		1	ZNF729	HGNC	HGNC:32464	protein_coding	YES	CCDS59368.1	ENSP00000469582	A6NN14		UPI000042600C	NM_001242680.1	tolerated(0.34)		4/4		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF187,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1										PASS		.	.												T	3	4	106	22316367	22316367	G	T	1	0	0	0	0	1	0	0	0	18703	971	34	2		2	ZNF729	19	22316367	Missense_Mutation	SNP	G	C3N-02587_TP	12347949	22316367	36301249	22	31937											
CACNG6	0	.	GRCh38	chr19	53993204	53993204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggccccgcggagctgccCggaggtgagcagccgccgcc	4	3	17	17	6	0	1	0	1	0	0	0	3	0	3	6	4	5	2	6	4	0	0	rs750723015		C3N-02587_TP	C3N-02587_NB	C	C																c.327C>T	p.=	p.P109P	ENST00000252729	1/4	202	150	52	312	312	0	strelka-mutect	CACNG6,synonymous_variant,p.=,ENST00000252729,NM_145814.1;CACNG6,synonymous_variant,p.=,ENST00000352529,NM_031897.2;CACNG6,synonymous_variant,p.=,ENST00000346968,NM_145815.1;CACNG8,downstream_gene_variant,,ENST00000270458,NM_031895.5;	T	ENST00000252729	Transcript	synonymous_variant	917/1853	327/783	109/260	P	ccC/ccT	rs750723015	1		1	CACNG6	HGNC	HGNC:13625	protein_coding	YES	CCDS12870.1	ENSP00000252729	Q9BXT2		UPI0000001276	NM_145814.1			1/4		Pfam_domain:PF13903,Prints_domain:PR01794,hmmpanther:PTHR15025,hmmpanther:PTHR15025:SF6																	LOW	1	SNV	1			1										PASS		rs750723015	.												T	2	4	106	53993204	53993204	C	T	1	0	0	0	0	0	0	0	1	2249	666	23	1		1	CACNG6	19	53993204	Silent	SNP	C	C3N-02587_TP	31676837	53993204	4624412	23	31938											
SH3BGR	0	.	GRCh38	chr21	39452069	39452069	+	Frame_Shift_Del	DEL	G	G	-																															ttccctgacaggggtgtgttGgggggagtcctctttccaac																										C3N-02587_TP	C3N-02587_NB	G	G																c.167delG	p.Gly56GlufsTer22	p.G56Efs*22	ENST00000333634	1/7	258	244	14	343	343	0	varindel-pindel	SH3BGR,frameshift_variant,p.Gly56GlufsTer22,ENST00000333634,NM_007341.2;SH3BGR,intron_variant,,ENST00000380637,NM_001317742.1,NM_001001713.1;SH3BGR,intron_variant,,ENST00000380634,;SH3BGR,intron_variant,,ENST00000458295,;SH3BGR,intron_variant,,ENST00000380631,;SH3BGR,intron_variant,,ENST00000440288,;SH3BGR,upstream_gene_variant,,ENST00000452550,;MIR6508,downstream_gene_variant,,ENST00000611656,;	-	ENST00000333634	Transcript	frameshift_variant	240/1251	162/720	54/239	L/X	ttG/tt	COSM5274884	1		1	SH3BGR	HGNC	HGNC:10822	protein_coding	YES	CCDS13666.1	ENSP00000332513	P55822		UPI00001B03C6	NM_007341.2			1/7													1						HIGH	1	deletion	1	5	1	1										PASS		.	.												-	7	5	106	39452069	39452069	G	-	1	0	1	0	1	0	0	0	0	14498	1339	47	0		0	SH3BGR	21	39452069	Frame_Shift_Del	DEL	G	C3N-02587_TP		39452069	7257914	24	31939											
TP73	0	.	GRCh38	chr1	3727187	3727187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagggggcatgaaccggCggcccatcctcatcatcatc	8	8	12	13	2	3	1	3	1	0	0	5	1	4	1	3	4	1	2	3	4	2	1	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.805C>T	p.Arg269Trp	p.R269W	ENST00000378295	7/14	287	212	75	152	152	0	strelka-varscan-mutect	TP73,missense_variant,p.Arg269Trp,ENST00000378295,NM_005427.3,NM_001204185.1;TP73,missense_variant,p.Arg220Trp,ENST00000378288,NM_001204191.1,NM_001126240.2,NM_001204190.1;TP73,missense_variant,p.Arg269Trp,ENST00000357733,NM_001204187.1;TP73,missense_variant,p.Arg269Trp,ENST00000346387,NM_001204188.1;TP73,missense_variant,p.Arg269Trp,ENST00000604074,NM_001204189.1,NM_001204186.1;TP73,missense_variant,p.Arg269Trp,ENST00000354437,NM_001204184.1;TP73,missense_variant,p.Arg220Trp,ENST00000378285,NM_001126241.2;TP73,missense_variant,p.Arg220Trp,ENST00000378280,NM_001126242.2;TP73,missense_variant,p.Arg198Trp,ENST00000378290,NM_001204192.1;TP73,missense_variant,p.Arg269Trp,ENST00000603362,;TP73,missense_variant,p.Arg269Trp,ENST00000604479,;TP73,non_coding_transcript_exon_variant,,ENST00000603364,;TP73,upstream_gene_variant,,ENST00000604566,;	T	ENST00000378295	Transcript	missense_variant	960/5188	805/1911	269/636	R/W	Cgg/Tgg		1		1	TP73	HGNC	HGNC:12003	protein_coding	YES	CCDS49.1	ENSP00000367545	O15350	A0A024R4C3	UPI000002E988	NM_005427.3,NM_001204185.1	deleterious(0)		7/14		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF21,PROSITE_patterns:PS00348,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	107	3727187	3727187	C	T	1	0	0	0	0	1	0	0	0	16872	759	27	1		1	TP73	1	3727187	Missense_Mutation	SNP	C	C3N-02588_TP		3727187	245229235	1	31940											
RNF186	0	.	GRCh38	chr1	19814559	19814559	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcgatgatgaaggtgagCacccatcgtaagacacccgg	12	5	14	10	3	0	4	0	3	0	1	1	5	0	4	2	3	1	2	2	3	2	1	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.543G>A	p.=	p.V181V	ENST00000375121	1/1	616	501	115	322	322	0	strelka-varscan-mutect	RNF186,synonymous_variant,p.=,ENST00000375121,NM_019062.1;RP11-91K11.2,splice_region_variant,,ENST00000454736,;	T	ENST00000375121	Transcript	synonymous_variant	720/1250	543/684	181/227	V	gtG/gtA		1		-1	RNF186	HGNC	HGNC:25978	protein_coding	YES	CCDS199.1	ENSP00000364263	Q9NXI6		UPI0000073BA5	NM_019062.1			1/1		Transmembrane_helices:TMhelix,hmmpanther:PTHR16450																	LOW		SNV				1										PASS		.	.												T	2	4	107	19814559	19814559	C	T	1	0	0	0	0	0	0	0	1	13646	697	25	3		3	RNF186	1	19814559	Silent	SNP	C	C3N-02588_TP	16087372	19814559	229141863	2	31941											
LRRC40	0	.	GRCh38	chr1	70148656	70148656	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatacgatatagaacttCaggtagcattttaaacctat	16	12	7	6	1	1	2	1	0	0	2	1	4	1	2	1	1	4	2	1	1	9	8	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.1534G>T	p.Glu512Ter	p.E512*	ENST00000370952	14/15	53	49	4	71	71	0	varscan-mutect	LRRC40,stop_gained,p.Glu512Ter,ENST00000370952,NM_017768.4;LRRC7,intron_variant,,ENST00000441830,;LRRC7,downstream_gene_variant,,ENST00000565615,;LRRC7,downstream_gene_variant,,ENST00000609072,;LRRC7,downstream_gene_variant,,ENST00000607936,;LRRC7,downstream_gene_variant,,ENST00000608744,;LRRC7,downstream_gene_variant,,ENST00000588515,;	A	ENST00000370952	Transcript	stop_gained	1614/2884	1534/1809	512/602	E/*	Gaa/Taa		1		-1	LRRC40	HGNC	HGNC:26004	protein_coding	YES	CCDS646.1	ENSP00000359990	Q9H9A6	A0A140VJN3	UPI000004A0A0	NM_017768.4			14/15		PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF424,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	107	70148656	70148656	C	A	1	0	0	0	0	0	1	0	0	8894	835	29	2		2	LRRC40	1	70148656	Nonsense_Mutation	SNP	C	C3N-02588_TP	50334097	70148656	178807766	3	31942											
DENND2D	0	.	GRCh38	chr1	111187658	111187658	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctgttcctcatattCaagtattttctgttggaaat	8	21	5	7	0	5	0	2	0	3	0	6	1	6	1	1	1	0	3	1	1	4	9	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.1363G>T	p.Glu455Ter	p.E455*	ENST00000357640	12/12	222	206	16	204	204	0	strelka-varscan-mutect	DENND2D,stop_gained,p.Glu455Ter,ENST00000357640,NM_024901.4;DENND2D,stop_gained,p.Glu452Ter,ENST00000369752,NM_001271833.1;CEPT1,downstream_gene_variant,,ENST00000545121,NM_001007794.1;CEPT1,downstream_gene_variant,,ENST00000357172,NM_006090.3;CEPT1,downstream_gene_variant,,ENST00000615636,;RP5-1180E21.5,upstream_gene_variant,,ENST00000610049,;DENND2D,non_coding_transcript_exon_variant,,ENST00000468692,;CEPT1,downstream_gene_variant,,ENST00000467362,;CEPT1,downstream_gene_variant,,ENST00000478042,;CEPT1,downstream_gene_variant,,ENST00000498239,;CEPT1,downstream_gene_variant,,ENST00000473474,;CEPT1,downstream_gene_variant,,ENST00000483427,;	A	ENST00000357640	Transcript	stop_gained	1593/2077	1363/1416	455/471	E/*	Gaa/Taa		1		-1	DENND2D	HGNC	HGNC:26192	protein_coding	YES	CCDS831.1	ENSP00000350266	Q9H6A0	A0A024R0G2	UPI000006E1E1	NM_024901.4			12/12		Low_complexity_(Seg):seg,hmmpanther:PTHR15288:SF2,hmmpanther:PTHR15288																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	107	111187658	111187658	C	A	1	0	0	0	0	0	1	0	0	4235	835	29	2		2	DENND2D	1	111187658	Nonsense_Mutation	SNP	C	C3N-02588_TP	41039002	111187658	137768764	4	31943											
FLAD1	0	.	GRCh38	chr1	154990250	154990250	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagtttctacaggacactAtcaagaggtactaggggcct	13	9	10	9	0	2	1	1	0	1	1	2	2	2	2	1	4	3	2	1	4	6	5	rs761846561		C3N-02588_TP	C3N-02588_NB	A	A																c.1357A>G	p.Ile453Val	p.I453V	ENST00000292180	4/7	438	344	94	173	173	0	strelka-varscan-mutect	FLAD1,missense_variant,p.Ile453Val,ENST00000368433,;FLAD1,missense_variant,p.Ile453Val,ENST00000292180,NM_025207.4;FLAD1,missense_variant,p.Ile356Val,ENST00000368432,NM_001184891.1;FLAD1,missense_variant,p.Ile356Val,ENST00000315144,NM_201398.2;FLAD1,synonymous_variant,p.=,ENST00000295530,;FLAD1,5_prime_UTR_variant,,ENST00000368428,;FLAD1,downstream_gene_variant,,ENST00000368431,NM_001184892.1;LENEP,upstream_gene_variant,,ENST00000392487,NM_018655.2;FLAD1,non_coding_transcript_exon_variant,,ENST00000489992,;FLAD1,non_coding_transcript_exon_variant,,ENST00000477609,;FLAD1,downstream_gene_variant,,ENST00000487371,;FLAD1,downstream_gene_variant,,ENST00000492620,;FLAD1,upstream_gene_variant,,ENST00000481758,;LENEP,upstream_gene_variant,,ENST00000368427,;	G	ENST00000292180	Transcript	missense_variant	1679/2160	1357/1764	453/587	I/V	Atc/Gtc	rs761846561	1		1	FLAD1	HGNC	HGNC:24671	protein_coding	YES	CCDS1078.1	ENSP00000292180	Q8NFF5		UPI00000735B2	NM_025207.4	tolerated(1)		4/7		hmmpanther:PTHR23293,hmmpanther:PTHR23293:SF9,Pfam_domain:PF01507,PIRSF_domain:PIRSF036620,Gene3D:3.40.50.620,Superfamily_domains:SSF52402																	MODERATE	1	SNV	1			1										PASS		rs761846561	.												G	3	3	107	154990250	154990250	A	G	1	0	0	0	0	1	0	0	0	5782	449	16	5		5	FLAD1	1	154990250	Missense_Mutation	SNP	A	C3N-02588_TP	43802592	154990250	93966172	5	31944											
PTPN7	0	.	GRCh38	chr1	202148617	202148617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcaggggtcaggggctggGttcctcaggcagctggcctg	4	8	19	10	0	2	0	2	0	0	0	3	0	3	0	2	8	1	5	2	8	0	1	rs201036614		C3N-02588_TP	C3N-02588_NB	G	G																c.1387C>A	p.Pro463Thr	p.P463T	ENST00000309017	10/10	339	308	31	142	142	0	strelka-varscan	PTPN7,missense_variant,p.Pro463Thr,ENST00000309017,NM_002832.3;PTPN7,missense_variant,p.Pro397Thr,ENST00000367279,NM_080588.2;PTPN7,missense_variant,p.Pro439Thr,ENST00000477554,NM_001199797.1;ARL8A,upstream_gene_variant,,ENST00000272217,NM_138795.3;ARL8A,upstream_gene_variant,,ENST00000614750,NM_001256129.1;PTPN7,downstream_gene_variant,,ENST00000477625,;PTPN7,downstream_gene_variant,,ENST00000492977,;PTPN7,missense_variant,p.Pro358Thr,ENST00000495688,;PTPN7,3_prime_UTR_variant,,ENST00000496197,;PTPN7,3_prime_UTR_variant,,ENST00000480836,;PTPN7,3_prime_UTR_variant,,ENST00000462815,;	T	ENST00000309017	Transcript	missense_variant	2161/3765	1387/1398	463/465	P/T	Ccc/Acc	rs201036614	1		-1	PTPN7	HGNC	HGNC:9659	protein_coding	YES	CCDS1423.2	ENSP00000309116	P35236		UPI00004701F6	NM_002832.3	tolerated_low_confidence(0.12)		10/10		hmmpanther:PTHR19134:SF41,hmmpanther:PTHR19134																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	107	202148617	202148617	G	T	1	0	0	0	0	1	0	0	0	12947	1261	44	2		2	PTPN7	1	202148617	Missense_Mutation	SNP	G	C3N-02588_TP	47158367	202148617	46807805	6	31945											
ALK	0	.	GRCh38	chr2	29328365	29328365	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacggcacatctggctctCatcttctccctgggcacagt	6	11	8	16	1	5	0	2	0	4	0	7	0	5	0	1	3	0	3	1	3	0	1	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.1399G>T	p.Glu467Ter	p.E467*	ENST00000389048	6/29	717	573	144	284	284	0	strelka-varscan	ALK,stop_gained,p.Glu467Ter,ENST00000389048,NM_004304.4;ALK,stop_gained,p.Glu90Ter,ENST00000618119,;	A	ENST00000389048	Transcript	stop_gained	2306/6220	1399/4863	467/1620	E/*	Gag/Tag		1		-1	ALK	HGNC	HGNC:427	protein_coding	YES	CCDS33172.1	ENSP00000373700	Q9UM73		UPI00001684DA	NM_004304.4			6/29		Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424																	HIGH	1	SNV	1			1										PASS		.	.												A	4	1	107	29328365	29328365	C	A	1	0	0	0	0	0	1	0	0	625	835	29	2		2	ALK	2	29328365	Nonsense_Mutation	SNP	C	C3N-02588_TP		29328365	212865164	7	31946											
PPP1R21	0	.	GRCh38	chr2	48458196	48458199	+	Frame_Shift_Del	DEL	AGAT	AGAT	-																															tgatgaagatctgcaaaagaAgatagaagagaatgaacggt																								novel		C3N-02588_TP	C3N-02588_NB	AGAT	AGAT																c.347_350delTAGA	p.Ile116LysfsTer24	p.I116Kfs*24	ENST00000294952	4/22	97	81	16	148	148	0	sindel-varindel-pindel	PPP1R21,frameshift_variant,p.Ile116LysfsTer24,ENST00000294952,NM_001135629.2;PPP1R21,frameshift_variant,p.Ile116LysfsTer24,ENST00000281394,NM_152994.4;PPP1R21,frameshift_variant,p.Ile116LysfsTer24,ENST00000449090,NM_001193475.1;PPP1R21,downstream_gene_variant,,ENST00000421486,;PPP1R21,3_prime_UTR_variant,,ENST00000416913,;PPP1R21,3_prime_UTR_variant,,ENST00000431614,;	-	ENST00000294952	Transcript	frameshift_variant	501-504/3142	344-347/2343	115-116/780	KI/X	aAGATa/aa		1		1	PPP1R21	HGNC	HGNC:30595	protein_coding	YES	CCDS46278.1	ENSP00000294952	Q6ZMI0		UPI000015C523	NM_001135629.2			4/22		hmmpanther:PTHR21448																	HIGH	1	deletion	1	3		1										PASS		.	.												-	7	5	107	48458196	48458196	AGAT	-	1	0	1	0	1	0	0	0	0	12483	72	3	0		0	PPP1R21	2	48458196	Frame_Shift_Del	DEL	AGAT	C3N-02588_TP	19129831	48458196	193735333	8	31947											
SULT1C2	0	.	GRCh38	chr2	108294246	108294246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagggacaacgtggattcagGaaattgtggatatgattgaa	14	10	13	4	1	1	2	1	2	0	0	1	6	1	6	0	4	1	0	0	4	4	4			C3N-02588_TP	C3N-02588_NB	G	G																c.169G>A	p.Glu57Lys	p.E57K	ENST00000326853	3/9	341	322	19	169	169	0	strelka-varscan-mutect	SULT1C2,missense_variant,p.Glu57Lys,ENST00000326853,NM_176825.2;SULT1C2,missense_variant,p.Glu57Lys,ENST00000251481,NM_001056.3;SULT1C2,missense_variant,p.Glu57Lys,ENST00000437390,;SULT1C2,missense_variant,p.Glu57Lys,ENST00000409880,;SULT1C2,missense_variant,p.Glu54Lys,ENST00000409067,;SULT1C2,missense_variant,p.Glu57Lys,ENST00000438339,;SULT1C2,non_coding_transcript_exon_variant,,ENST00000492554,;SULT1C2,missense_variant,p.Glu55Lys,ENST00000442801,;SULT1C2,upstream_gene_variant,,ENST00000495441,;	A	ENST00000326853	Transcript	missense_variant	622/2828	169/924	57/307	E/K	Gaa/Aaa	COSM4900296,COSM4900297	1		1	SULT1C2	HGNC	HGNC:11456	protein_coding	YES	CCDS2076.1	ENSP00000319622	O00338		UPI000002B313	NM_176825.2	deleterious(0.01)		3/9		hmmpanther:PTHR11783:SF73,hmmpanther:PTHR11783,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540											1,1						MODERATE	1	SNV	1		1,1	1										PASS		rs969530695	.												A	3	1	107	108294246	108294246	G	A	1	0	0	0	0	1	0	0	0	15763	1175	41	3		3	SULT1C2	2	108294246	Missense_Mutation	SNP	G	C3N-02588_TP	59836050	108294246	133899283	9	31948											
ZEB2	0	.	GRCh38	chr2	144398544	144398544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggttcatgctgaacactggGttagtgcttttgttgtccag	6	15	13	7	0	1	1	1	1	0	0	2	1	2	1	1	2	3	5	1	2	2	5	novel		C3N-02588_TP	C3N-02588_NB	G	G																c.2643C>A	p.Asn881Lys	p.N881K	ENST00000637267	9/11	375	305	70	324	324	0	strelka-varscan-mutect	ZEB2,missense_variant,p.Asn881Lys,ENST00000637267,;ZEB2,missense_variant,p.Asn906Lys,ENST00000636471,;ZEB2,missense_variant,p.Asn881Lys,ENST00000627532,NM_014795.3;ZEB2,missense_variant,p.Asn881Lys,ENST00000636026,;ZEB2,missense_variant,p.Asn769Lys,ENST00000638087,;ZEB2,missense_variant,p.Asn769Lys,ENST00000637304,;ZEB2,missense_variant,p.Asn769Lys,ENST00000638007,;ZEB2,missense_variant,p.Asn769Lys,ENST00000637045,;ZEB2,missense_variant,p.Asn769Lys,ENST00000636413,;ZEB2,missense_variant,p.Asn622Lys,ENST00000638128,;ZEB2,missense_variant,p.Asn881Lys,ENST00000409487,;ZEB2,missense_variant,p.Asn857Lys,ENST00000539609,NM_001171653.1;ZEB2,missense_variant,p.Asn881Lys,ENST00000558170,;ZEB2,missense_variant,p.Asn880Lys,ENST00000303660,;ZEB2,intron_variant,,ENST00000440875,;ZEB2,intron_variant,,ENST00000419938,;ZEB2,downstream_gene_variant,,ENST00000427902,;ZEB2,downstream_gene_variant,,ENST00000392861,;ZEB2,upstream_gene_variant,,ENST00000637873,;ZEB2,non_coding_transcript_exon_variant,,ENST00000636820,;ZEB2,non_coding_transcript_exon_variant,,ENST00000636179,;ZEB2,3_prime_UTR_variant,,ENST00000636732,;	T	ENST00000637267	Transcript	missense_variant	3484/9856	2643/3645	881/1214	N/K	aaC/aaA		1		-1	ZEB2	HGNC	HGNC:14881	protein_coding	YES	CCDS2186.1	ENSP00000490293			UPI00001359A2		tolerated(0.17)		9/11		hmmpanther:PTHR24391,hmmpanther:PTHR24391:SF11																	MODERATE	1	SNV				1										PASS		.	.												T	3	4	107	144398544	144398544	G	T	1	0	0	0	0	1	0	0	0	18200	1252	44	2		2	ZEB2	2	144398544	Missense_Mutation	SNP	G	C3N-02588_TP	36104298	144398544	97794985	10	31949											
CIR1	0	.	GRCh38	chr2	174395585	174395585	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggaggcaggatgaaagTctttcttgcacatgaagttg	11	13	12	5	0	2	2	0	2	2	0	2	4	2	4	0	3	1	3	0	3	2	4	novel		C3N-02588_TP	C3N-02588_NB	T	T																c.38A>T	p.Asp13Val	p.D13V	ENST00000342016	1/10	466	424	42	277	277	0	strelka-varscan-mutect	CIR1,missense_variant,p.Asp13Val,ENST00000342016,NM_004882.3;SCRN3,upstream_gene_variant,,ENST00000272732,NM_024583.4;SCRN3,upstream_gene_variant,,ENST00000409673,NM_001193528.1;SCRN3,upstream_gene_variant,,ENST00000427038,;SCRN3,upstream_gene_variant,,ENST00000458563,;SCRN3,upstream_gene_variant,,ENST00000548031,;SCRN3,upstream_gene_variant,,ENST00000435964,;SCRN3,upstream_gene_variant,,ENST00000424069,;SCRN3,upstream_gene_variant,,ENST00000490927,;SCRN3,upstream_gene_variant,,ENST00000488349,;CIR1,non_coding_transcript_exon_variant,,ENST00000461454,;CIR1,non_coding_transcript_exon_variant,,ENST00000472169,;SCRN3,upstream_gene_variant,,ENST00000548868,;SCRN3,upstream_gene_variant,,ENST00000437944,;	A	ENST00000342016	Transcript	missense_variant	131/1921	38/1353	13/450	D/V	gAc/gTc		1		-1	CIR1	HGNC	HGNC:24217	protein_coding	YES	CCDS2256.1	ENSP00000339723	Q86X95		UPI000000DB2A	NM_004882.3	deleterious(0.02)		1/10		hmmpanther:PTHR13151,Pfam_domain:PF10197,SMART_domains:SM01083																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	107	174395585	174395585	T	A	1	0	0	0	0	1	0	0	0	3195	1667	58	4		4	CIR1	2	174395585	Missense_Mutation	SNP	T	C3N-02588_TP	29997041	174395585	67797944	11	31950											
SLC40A1	0	.	GRCh38	chr2	189575207	189575207	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaccgatgatggctccCaggaccagaacagaccctgc	11	5	10	15	1	1	3	1	1	0	2	2	5	2	4	4	2	2	1	4	2	1	0	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.225G>A	p.=	p.L75L	ENST00000261024	3/8	577	488	89	308	308	0	strelka-varscan-mutect	SLC40A1,synonymous_variant,p.=,ENST00000261024,NM_014585.5;SLC40A1,synonymous_variant,p.=,ENST00000427241,;SLC40A1,downstream_gene_variant,,ENST00000455320,;SLC40A1,downstream_gene_variant,,ENST00000427419,;SLC40A1,downstream_gene_variant,,ENST00000440626,;SLC40A1,non_coding_transcript_exon_variant,,ENST00000418714,;SLC40A1,non_coding_transcript_exon_variant,,ENST00000479598,;	T	ENST00000261024	Transcript	synonymous_variant	652/3442	225/1716	75/571	L	ctG/ctA		1		-1	SLC40A1	HGNC	HGNC:10909	protein_coding	YES	CCDS2299.1	ENSP00000261024	Q9NP59		UPI0000034CC2	NM_014585.5			3/8		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11660,hmmpanther:PTHR11660:SF47,Pfam_domain:PF06963,Superfamily_domains:SSF103473																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	107	189575207	189575207	C	T	1	0	0	0	0	0	0	0	1	14906	581	21	3		3	SLC40A1	2	189575207	Silent	SNP	C	C3N-02588_TP	15179622	189575207	52618322	12	31951											
GRM7	0	.	GRCh38	chr3	7461648	7461648	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggcgttatgacatctttCagtaccagaccacaaacacc	12	9	7	13	1	2	2	1	1	1	1	2	2	2	2	3	1	2	2	3	1	3	3			C3N-02588_TP	C3N-02588_NB	C	C																c.1441C>T	p.Gln481Ter	p.Q481*	ENST00000357716	7/10	401	321	80	237	237	0	strelka-varscan-mutect	GRM7,stop_gained,p.Gln481Ter,ENST00000486284,NM_181874.2;GRM7,stop_gained,p.Gln481Ter,ENST00000357716,NM_000844.3;GRM7,stop_gained,p.Gln481Ter,ENST00000389336,;GRM7,stop_gained,p.Gln236Ter,ENST00000402647,;GRM7,stop_gained,p.Gln138Ter,ENST00000445087,;GRM7,non_coding_transcript_exon_variant,,ENST00000458641,;GRM7,stop_gained,p.Gln481Ter,ENST00000467425,;GRM7,stop_gained,p.Gln481Ter,ENST00000440923,;GRM7,stop_gained,p.Gln481Ter,ENST00000389335,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;	T	ENST00000357716	Transcript	stop_gained	1715/4127	1441/2748	481/915	Q/*	Cag/Tag	COSM5469031,COSM5469032,COSM5469033	1		1	GRM7	HGNC	HGNC:4599	protein_coding	YES	CCDS43042.1	ENSP00000350348	Q14831		UPI000004A7E3	NM_000844.3			7/10		hmmpanther:PTHR24060:SF98,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR01057											1,1,1						HIGH	1	SNV	1		1,1,1	1										PASS		.	.												T	4	4	107	7461648	7461648	C	T	1	0	0	0	0	0	1	0	0	6684	827	29	3		3	GRM7	3	7461648	Nonsense_Mutation	SNP	C	C3N-02588_TP		7461648	190833911	13	31952											
ANO10	0	.	GRCh38	chr3	43605728	43605728	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcacctccatctttttttTtagctataattctgtttttc	7	22	2	10	0	3	0	1	0	2	0	5	0	4	0	2	0	1	2	2	0	3	10	novel		C3N-02588_TP	C3N-02588_NB	T	T																c.125A>T	p.Lys42Ile	p.K42I	ENST00000292246	2/13	314	284	30	278	278	0	strelka-varscan-mutect	ANO10,missense_variant,p.Lys42Ile,ENST00000292246,NM_018075.3;ANO10,missense_variant,p.Lys42Ile,ENST00000414522,NM_001204831.1;ANO10,missense_variant,p.Lys42Ile,ENST00000396091,NM_001204832.1;ANO10,missense_variant,p.Lys42Ile,ENST00000350459,NM_001204834.1;ANO10,missense_variant,p.Lys42Ile,ENST00000451430,NM_001204833.1;ANO10,missense_variant,p.Lys42Ile,ENST00000427171,;ANO10,missense_variant,p.Lys42Ile,ENST00000428831,;ANO10,missense_variant,p.Lys42Ile,ENST00000428472,;ANO10,missense_variant,p.Lys42Ile,ENST00000444344,;ANO10,missense_variant,p.Lys42Ile,ENST00000439141,;ANO10,missense_variant,p.Lys42Ile,ENST00000456438,;ANO10,missense_variant,p.Lys42Ile,ENST00000413397,;ANO10,downstream_gene_variant,,ENST00000436073,;	A	ENST00000292246	Transcript	missense_variant	296/3212	125/1983	42/660	K/I	aAa/aTa		1		-1	ANO10	HGNC	HGNC:25519	protein_coding	YES	CCDS2710.2	ENSP00000292246	Q9NW15	A0A024R2S0	UPI000020A59A	NM_018075.3	tolerated(0.06)		2/13		hmmpanther:PTHR12308:SF40,hmmpanther:PTHR12308																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	107	43605728	43605728	T	A	1	0	0	0	0	1	0	0	0	803	1841	64	4		4	ANO10	3	43605728	Missense_Mutation	SNP	T	C3N-02588_TP	36144080	43605728	154689831	14	31953											
CLSTN2	0	.	GRCh38	chr3	140562922	140562922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattaagtgctcagaactcaAtgggcgctacactagcaatg	13	9	10	9	1	2	1	2	0	0	1	2	2	2	1	0	1	4	3	0	1	6	3	novel		C3N-02588_TP	C3N-02588_NB	A	A																c.2324A>G	p.Asn775Ser	p.N775S	ENST00000458420	14/17	501	266	235	188	188	0	strelka-varscan	CLSTN2,missense_variant,p.Asn775Ser,ENST00000458420,NM_022131.2;	G	ENST00000458420	Transcript	missense_variant	2514/14202	2324/2868	775/955	N/S	aAt/aGt		1		1	CLSTN2	HGNC	HGNC:17448	protein_coding	YES	CCDS3112.1	ENSP00000402460	Q9H4D0		UPI00001B0051	NM_022131.2	deleterious(0.05)		14/17		hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	107	140562922	140562922	A	G	1	0	0	0	0	1	0	0	0	3334	101	4	5		5	CLSTN2	3	140562922	Missense_Mutation	SNP	A	C3N-02588_TP	96957194	140562922	57732637	15	31954											
ARHGEF26	0	.	GRCh38	chr3	154122950	154122950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtccacgtcttatcgcaggGcagtggtcagtggctttgat	6	12	14	9	2	2	1	1	1	1	0	4	1	3	1	1	4	0	3	1	4	1	2			C3N-02588_TP	C3N-02588_NB	G	G																c.958G>T	p.Ala320Ser	p.A320S	ENST00000356448	2/15	1193	889	304	404	403	1	strelka-varscan	ARHGEF26,missense_variant,p.Ala320Ser,ENST00000356448,NM_001251962.1;ARHGEF26,missense_variant,p.Ala320Ser,ENST00000465093,NM_015595.3;ARHGEF26,missense_variant,p.Ala320Ser,ENST00000496710,NM_001251963.1;ARHGEF26,missense_variant,p.Ala320Ser,ENST00000465817,;ARHGEF26-AS1,upstream_gene_variant,,ENST00000491862,;ARHGEF26-AS1,upstream_gene_variant,,ENST00000467912,;ARHGEF26-AS1,upstream_gene_variant,,ENST00000479270,;ARHGEF26-AS1,upstream_gene_variant,,ENST00000480639,;	T	ENST00000356448	Transcript	missense_variant	1242/5254	958/2616	320/871	A/S	Gca/Tca	COSM1040127,COSM1040128	1		1	ARHGEF26	HGNC	HGNC:24490	protein_coding	YES	CCDS46938.1	ENSP00000348828	Q96DR7	A0A140VJU4	UPI00001410D0	NM_001251962.1	deleterious(0)		2/15		hmmpanther:PTHR12845:SF4,hmmpanther:PTHR12845											1,1						MODERATE		SNV	2		1,1	1										PASS		.	.												T	3	4	107	154122950	154122950	G	T	1	0	0	0	0	1	0	0	0	1035	1203	42	2		2	ARHGEF26	3	154122950	Missense_Mutation	SNP	G	C3N-02588_TP	13560028	154122950	44172609	16	31955											
GABRG1	0	.	GRCh38	chr4	46058610	46058610	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttatactcaatttcatttTtagggtatccatctatagag	12	17	5	7	0	3	1	2	0	1	1	4	1	4	1	1	1	1	1	1	1	7	9	novel		C3N-02588_TP	C3N-02588_NB	T	T																c.638A>C	p.Lys213Thr	p.K213T	ENST00000295452	6/9	101	95	6	116	116	0	varscan-mutect	GABRG1,missense_variant,p.Lys213Thr,ENST00000295452,NM_173536.3;	G	ENST00000295452	Transcript	missense_variant	806/6785	638/1398	213/465	K/T	aAa/aCa		1		-1	GABRG1	HGNC	HGNC:4086	protein_coding	YES	CCDS3470.1	ENSP00000295452	Q8N1C3		UPI0000047AE2	NM_173536.3	tolerated(0.14)		6/9		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,TIGRFAM_domain:TIGR00860																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	107	46058610	46058610	T	G	1	0	0	0	0	1	0	0	0	6042	1841	64	5		5	GABRG1	4	46058610	Missense_Mutation	SNP	T	C3N-02588_TP		46058610	144155945	17	31956											
ARHGAP24	0	.	GRCh38	chr4	85995618	85995618	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcctgaaacaggaaaTgaccaaacagaagatagagt	18	6	9	8	0	0	5	0	2	0	3	1	6	1	6	3	1	3	0	3	1	5	2	novel		C3N-02588_TP	C3N-02588_NB	T	T																c.1964T>G	p.Met655Arg	p.M655R	ENST00000395184	9/10	284	226	58	188	188	0	strelka-varscan-mutect	ARHGAP24,missense_variant,p.Met655Arg,ENST00000395184,NM_001025616.2;ARHGAP24,missense_variant,p.Met562Arg,ENST00000264343,NM_031305.2;ARHGAP24,missense_variant,p.Met560Arg,ENST00000395183,NM_001042669.1;ARHGAP24,missense_variant,p.Met570Arg,ENST00000514229,NM_001287805.1;RP13-514E23.2,downstream_gene_variant,,ENST00000610225,;	G	ENST00000395184	Transcript	missense_variant	2430/4661	1964/2247	655/748	M/R	aTg/aGg		1		1	ARHGAP24	HGNC	HGNC:25361	protein_coding	YES	CCDS34025.1	ENSP00000378611	Q8N264		UPI00001AF1D9	NM_001025616.2	deleterious(0)		9/10		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF19																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	107	85995618	85995618	T	G	1	0	0	0	0	1	0	0	0	998	1464	51	5		5	ARHGAP24	4	85995618	Missense_Mutation	SNP	T	C3N-02588_TP	39937008	85995618	104218937	18	31957											
GABRA1	0	.	GRCh38	chr5	161873268	161873268	+	Frame_Shift_Del	DEL	C	C	-																															caatggaaagaagtcagtggCccacaacatgaccatgccca																								novel		C3N-02588_TP	C3N-02588_NB	C	C																c.409delC	p.His137ThrfsTer3	p.H137Tfs*3	ENST00000393943	5/10	603	495	108	310	310	0	sindel-varindel-pindel	GABRA1,frameshift_variant,p.His137ThrfsTer3,ENST00000393943,NM_001127644.1,NM_001127648.1;GABRA1,frameshift_variant,p.His137ThrfsTer3,ENST00000428797,NM_001127643.1;GABRA1,frameshift_variant,p.His152ThrfsTer3,ENST00000638159,;GABRA1,frameshift_variant,p.His137ThrfsTer3,ENST00000437025,NM_001127645.1;GABRA1,frameshift_variant,p.His137ThrfsTer3,ENST00000638112,;GABRA1,frameshift_variant,p.His137ThrfsTer3,ENST00000636573,;GABRA1,frameshift_variant,p.His137ThrfsTer3,ENST00000023897,NM_000806.5;GABRA1,frameshift_variant,p.His137ThrfsTer3,ENST00000637827,;GABRA1,frameshift_variant,p.His137ThrfsTer3,ENST00000635880,;GABRA1,frameshift_variant,p.His137ThrfsTer3,ENST00000634335,;GABRA1,frameshift_variant,p.His137ThrfsTer3,ENST00000519621,;GABRA1,downstream_gene_variant,,ENST00000522651,;GABRA1,non_coding_transcript_exon_variant,,ENST00000636408,;GABRA1,non_coding_transcript_exon_variant,,ENST00000635916,;GABRA1,3_prime_UTR_variant,,ENST00000637044,;GABRA1,3_prime_UTR_variant,,ENST00000636340,;GABRA1,non_coding_transcript_exon_variant,,ENST00000519542,;	-	ENST00000393943	Transcript	frameshift_variant	1190/4686	407/1371	136/456	A/X	gCc/gc		1		1	GABRA1	HGNC	HGNC:4075	protein_coding	YES	CCDS4357.1	ENSP00000377517	P14867		UPI000012AF95	NM_001127644.1,NM_001127648.1			5/10		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF514,TIGRFAM_domain:TIGR00860																	HIGH	1	deletion	1	2		1										PASS		.	.												-	7	5	107	161873268	161873268	C	-	1	0	1	0	1	0	0	0	0	6031	739	26	0		0	GABRA1	5	161873268	Frame_Shift_Del	DEL	C	C3N-02588_TP		161873268	19664991	19	31958											
DNAH8	0	.	GRCh38	chr6	38734582	38734582	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtgcatattttttgttcGttgccgtaatgatgttgcta	7	19	9	6	2	0	1	0	1	0	0	1	1	0	1	1	0	3	6	1	0	3	9	rs188018051		C3N-02588_TP	C3N-02588_NB	G	G																c.719G>C	p.Arg240Pro	p.R240P	ENST00000327475	5/93	210	157	53	224	224	0	strelka-varscan	DNAH8,missense_variant,p.Arg240Pro,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Arg23Pro,ENST00000359357,;DNAH8,missense_variant,p.Arg240Pro,ENST00000449981,;DNAH8,downstream_gene_variant,,ENST00000373278,;	C	ENST00000327475	Transcript	missense_variant	828/14360	719/14124	240/4707	R/P	cGt/cCt	rs188018051	1		1	DNAH8	HGNC	HGNC:2952	protein_coding	YES	CCDS75447.1	ENSP00000333363		A0A075B6F3	UPI000179A984	NM_001206927.1	deleterious(0)		5/93		hmmpanther:PTHR10676:SF280,hmmpanther:PTHR10676																	MODERATE	1	SNV	5			1										PASS		.	.												C	3	2	107	38734582	38734582	G	C	1	0	0	0	0	1	0	0	0	4422	1145	40	4		4	DNAH8	6	38734582	Missense_Mutation	SNP	G	C3N-02588_TP		38734582	132071397	20	31959											
EYS	0	.	GRCh38	chr6	65332415	65332415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcaccgtgttgaggattCttctgtgaattaatttggga	9	16	11	5	1	3	2	1	2	2	0	3	4	3	4	1	2	0	2	1	2	3	6	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.1769G>T	p.Arg590Ile	p.R590I	ENST00000393380	12/12	129	120	9	211	210	1	strelka-varscan-mutect	EYS,missense_variant,p.Arg590Ile,ENST00000393380,NM_001142801.1;EYS,intron_variant,,ENST00000503581,NM_001142800.1;EYS,intron_variant,,ENST00000370621,NM_001292009.1;EYS,downstream_gene_variant,,ENST00000342421,NM_198283.1;	A	ENST00000393380	Transcript	missense_variant,splice_region_variant	2307/5450	1769/1860	590/619	R/I	aGa/aTa		1		-1	EYS	HGNC	HGNC:21555	protein_coding		CCDS47446.1	ENSP00000377042	Q5T1H1		UPI00001D812F	NM_001142801.1	tolerated_low_confidence(0.41)		12/12																			MODERATE		SNV	1			1										PASS		.	.												A	3	1	107	65332415	65332415	C	A	1	0	0	0	0	1	0	0	0	5200	927	32	2		2	EYS	6	65332415	Missense_Mutation	SNP	C	C3N-02588_TP	26597833	65332415	105473564	21	31960											
SCAF8	0	.	GRCh38	chr6	154802024	154802024	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagaagccccagccttcCattctgcaggccctagatgc	10	7	8	16	0	1	2	0	0	1	2	2	2	2	2	5	1	5	1	5	1	3	3	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.894C>T	p.=	p.S298S	ENST00000417268	8/21	337	257	80	148	148	0	strelka-varscan-mutect	SCAF8,synonymous_variant,p.=,ENST00000367178,NM_001286199.1,NM_014892.4;SCAF8,synonymous_variant,p.=,ENST00000417268,NM_001286188.1,NM_001286194.1;SCAF8,synonymous_variant,p.=,ENST00000367186,NM_001286189.1;	T	ENST00000417268	Transcript	synonymous_variant	939/4944	894/4050	298/1349	S	tcC/tcT		1		1	SCAF8	HGNC	HGNC:20959	protein_coding	YES	CCDS75541.1	ENSP00000413098		A0A0A0MT33	UPI0003BD245C	NM_001286188.1,NM_001286194.1			8/21		Low_complexity_(Seg):seg																	LOW	1	SNV	2			1										PASS		rs1309831606	.												T	2	4	107	154802024	154802024	C	T	1	0	0	0	0	0	0	0	1	14135	581	21	3		3	SCAF8	6	154802024	Silent	SNP	C	C3N-02588_TP	89469609	154802024	16003955	22	31961											
SERAC1	0	.	GRCh38	chr6	158113470	158113470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgattccacaggtaccaCatggagcttaatcatgctgc	10	11	9	11	0	1	1	1	1	0	0	2	2	2	2	2	2	5	4	2	2	2	3			C3N-02588_TP	C3N-02588_NB	C	C																c.1807G>A	p.Val603Met	p.V603M	ENST00000367104	16/17	148	102	46	93	93	0	strelka-varscan-mutect	SERAC1,missense_variant,p.Val603Met,ENST00000367104,NM_032861.3;SERAC1,downstream_gene_variant,,ENST00000367101,;SERAC1,downstream_gene_variant,,ENST00000435180,;SERAC1,3_prime_UTR_variant,,ENST00000607742,;SERAC1,3_prime_UTR_variant,,ENST00000607071,;SERAC1,downstream_gene_variant,,ENST00000606965,;	T	ENST00000367104	Transcript	missense_variant	1939/3948	1807/1965	603/654	V/M	Gtg/Atg	COSM4160325	1		-1	SERAC1	HGNC	HGNC:21061	protein_coding	YES	CCDS5255.1	ENSP00000356071	Q96JX3		UPI0000070959	NM_032861.3	deleterious(0)		16/17		hmmpanther:PTHR22731,Superfamily_domains:SSF53474											1						MODERATE	1	SNV	1		1	1										PASS		rs1033568259	.												T	3	4	107	158113470	158113470	C	T	1	0	0	0	0	1	0	0	0	14349	478	17	3		3	SERAC1	6	158113470	Missense_Mutation	SNP	C	C3N-02588_TP	3311446	158113470	12692509	23	31962											
GRID2IP	0	.	GRCh38	chr7	6520735	6520735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggtgagcgccgacgacgGgttgggtgagtccagagaat	9	6	19	7	4	0	3	0	2	0	1	1	7	1	4	2	4	1	1	2	4	1	1	novel		C3N-02588_TP	C3N-02588_NB	G	G																c.1111C>T	p.Pro371Ser	p.P371S	ENST00000457091	7/22	183	154	29	86	86	0	strelka-varscan-mutect	GRID2IP,missense_variant,p.Pro371Ser,ENST00000457091,NM_001145118.1;GRID2IP,missense_variant,p.Pro181Ser,ENST00000452113,;GRID2IP,missense_variant,p.Pro188Ser,ENST00000435185,;	A	ENST00000457091	Transcript	missense_variant	1111/3636	1111/3636	371/1211	P/S	Ccg/Tcg		1		-1	GRID2IP	HGNC	HGNC:18464	protein_coding	YES	CCDS47537.1	ENSP00000397351	A4D2P6		UPI0001722D0B	NM_001145118.1	tolerated(0.51)		7/22		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF242,Low_complexity_(Seg):seg																	MODERATE	1	SNV	5			1										PASS		rs977409588	.												A	3	1	107	6520735	6520735	G	A	1	0	0	0	0	1	0	0	0	6653	1232	43	3		3	GRID2IP	7	6520735	Missense_Mutation	SNP	G	C3N-02588_TP		6520735	152825238	24	31963											
MET	0	.	GRCh38	chr7	116731716	116731716	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcgcgccgtgatgaatatCgaacagagtttaccacagct	13	8	10	10	4	0	3	0	2	0	1	1	4	0	3	2	0	4	2	2	0	5	3	rs369705803		C3N-02588_TP	C3N-02588_NB	C	C																c.1249C>T	p.Arg417Ter	p.R417*	ENST00000318493	3/21	431	357	74	264	264	0	strelka-varscan-mutect	MET,stop_gained,p.Arg417Ter,ENST00000397752,NM_000245.2;MET,stop_gained,p.Arg417Ter,ENST00000318493,NM_001127500.1;MET,stop_gained,p.Arg417Ter,ENST00000436117,;MET,non_coding_transcript_exon_variant,,ENST00000495962,;	T	ENST00000318493	Transcript	stop_gained	1436/4632	1249/4227	417/1408	R/*	Cga/Tga	rs369705803,COSM3632204	1		1	MET	HGNC	HGNC:7029	protein_coding	YES	CCDS47689.1	ENSP00000317272	P08581	A0A024R728	UPI000014033E	NM_001127500.1			3/21		PROSITE_profiles:PS51004,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF332,Pfam_domain:PF01403,PIRSF_domain:PIRSF000617,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912											0,1						HIGH	1	SNV	1		0,1	1										PASS		rs369705803	.												T	4	4	107	116731716	116731716	C	T	1	0	0	0	0	0	1	0	0	9430	876	31	1		1	MET	7	116731716	Nonsense_Mutation	SNP	C	C3N-02588_TP	110210981	116731716	42614257	25	31964											
PRKDC	0	.	GRCh38	chr8	47782494	47782494	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctccacgcgctggtcCtgccgcaggtcctcgccacc	4	7	11	19	4	0	0	0	0	0	0	4	0	3	0	6	2	3	4	6	2	0	0	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.11280G>A	p.=	p.Q3760Q	ENST00000314191	79/86	621	573	48	276	276	0	strelka-varscan-mutect	PRKDC,synonymous_variant,p.=,ENST00000314191,NM_006904.6;PRKDC,synonymous_variant,p.=,ENST00000338368,NM_001081640.1;PRKDC,upstream_gene_variant,,ENST00000536429,;PRKDC,non_coding_transcript_exon_variant,,ENST00000521331,;PRKDC,non_coding_transcript_exon_variant,,ENST00000432581,;PRKDC,upstream_gene_variant,,ENST00000536483,;PRKDC,upstream_gene_variant,,ENST00000536710,;	T	ENST00000314191	Transcript	synonymous_variant	11337/13509	11280/12387	3760/4128	Q	caG/caA		1		-1	PRKDC	HGNC	HGNC:9413	protein_coding	YES	CCDS75735.1	ENSP00000313420	P78527		UPI0000013593	NM_006904.6			79/86		PROSITE_profiles:PS50290,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF68,PROSITE_patterns:PS00915,Pfam_domain:PF00454,Gene3D:3.30.1010.10,SMART_domains:SM00146,Superfamily_domains:SSF56112																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	107	47782494	47782494	C	T	1	0	0	0	0	0	0	0	1	12654	680	24	3		3	PRKDC	8	47782494	Silent	SNP	C	C3N-02588_TP		47782494	97356142	26	31965											
AGO2	0	.	GRCh38	chr8	140551368	140551368	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcccacaccttgatctcGatgcccgtgtggaactgctt	7	11	10	13	2	1	1	0	1	1	0	2	3	1	2	3	2	3	1	3	2	1	2	rs142051728		C3N-02588_TP	C3N-02588_NB	G	G																c.1338C>A	p.=	p.I446I	ENST00000220592	11/19	116	106	10	47	47	0	strelka-mutect	AGO2,synonymous_variant,p.=,ENST00000220592,NM_012154.3;AGO2,synonymous_variant,p.=,ENST00000519980,NM_001164623.1;AGO2,3_prime_UTR_variant,,ENST00000523609,;AGO2,downstream_gene_variant,,ENST00000521325,;	T	ENST00000220592	Transcript	synonymous_variant	1451/14581	1338/2580	446/859	I	atC/atA	rs142051728	1		-1	AGO2	HGNC	HGNC:3263	protein_coding	YES	CCDS6380.1	ENSP00000220592	Q9UKV8		UPI0000168652	NM_012154.3			11/19		HAMAP:MF_03031,hmmpanther:PTHR22891:SF17,hmmpanther:PTHR22891,Gene3D:3.40.50.2300,Pfam_domain:PF16487																	LOW	1	SNV	2			1										PASS		rs142051728	.												T	2	4	107	140551368	140551368	G	T	1	0	0	0	0	0	0	0	1	465	1048	37	1		1	AGO2	8	140551368	Silent	SNP	G	C3N-02588_TP	92768874	140551368	4587268	27	31966											
CCDC171	0	.	GRCh38	chr9	15678768	15678768	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttttcagattagaaaaaGagtatttctccaaaaataag	19	12	5	5	0	2	3	1	0	1	3	3	3	2	3	1	0	1	1	1	0	8	6	novel		C3N-02588_TP	C3N-02588_NB	G	G																c.1087G>T	p.Glu363Ter	p.E363*	ENST00000380701	10/26	81	47	34	109	109	0	strelka-varscan-mutect	CCDC171,stop_gained,p.Glu363Ter,ENST00000380701,NM_173550.2;	T	ENST00000380701	Transcript	stop_gained	1415/6512	1087/3981	363/1326	E/*	Gag/Tag		1		1	CCDC171	HGNC	HGNC:29828	protein_coding	YES	CCDS6481.1	ENSP00000370077	Q6TFL3		UPI000021C44B	NM_173550.2			10/26		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF388																	HIGH	1	SNV	1			1										PASS		.	.												T	4	4	107	15678768	15678768	G	T	1	0	0	0	0	0	1	0	0	2488	943	33	2		2	CCDC171	9	15678768	Nonsense_Mutation	SNP	G	C3N-02588_TP		15678768	122715949	28	31967											
STIM1	0	.	GRCh38	chr11	4023911	4023911	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattaccatgacccaacagtGaaacacagcaccttccatgg	15	7	6	13	0	0	2	0	2	0	0	1	2	1	2	4	1	4	1	4	1	4	2	novel		C3N-02588_TP	C3N-02588_NB	G	G																c.309G>A	p.=	p.V103V	ENST00000616714	3/12	647	502	145	389	389	0	strelka-varscan-mutect	STIM1,synonymous_variant,p.=,ENST00000616714,NM_001277961.1;STIM1,synonymous_variant,p.=,ENST00000300737,NM_003156.3;STIM1,synonymous_variant,p.=,ENST00000527651,NM_001277962.1;STIM1,synonymous_variant,p.=,ENST00000532990,;STIM1,synonymous_variant,p.=,ENST00000525403,;STIM1,synonymous_variant,p.=,ENST00000525055,;STIM1,synonymous_variant,p.=,ENST00000528656,;STIM1,synonymous_variant,p.=,ENST00000532919,;STIM1,synonymous_variant,p.=,ENST00000530554,;STIM1,synonymous_variant,p.=,ENST00000532610,;STIM1,synonymous_variant,p.=,ENST00000524822,;STIM1,non_coding_transcript_exon_variant,,ENST00000527484,;STIM1,non_coding_transcript_exon_variant,,ENST00000526771,;RPS29P20,downstream_gene_variant,,ENST00000489592,;	A	ENST00000616714	Transcript	synonymous_variant	877/4356	309/2376	103/791	V	gtG/gtA		1		1	STIM1	HGNC	HGNC:11386	protein_coding	YES	CCDS73247.1	ENSP00000478059		G0XQ39	UPI000217FCDA	NM_001277961.1			3/12		hmmpanther:PTHR15136,hmmpanther:PTHR15136:SF9																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	107	4023911	4023911	G	A	1	0	0	0	0	0	0	0	1	15660	1277	45	3		3	STIM1	11	4023911	Silent	SNP	G	C3N-02588_TP		4023911	131062711	29	31968			1	38		3	3	74	G		1.025213e-08
STIM1	0	.	GRCh38	chr11	4023941	4023941	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttccatggtgaggataaGctcatcagcgtggaggacct	10	9	12	10	1	2	1	2	1	0	0	3	4	3	4	3	4	2	1	3	4	1	2	rs777644508		C3N-02588_TP	C3N-02588_NB	G	G																c.339G>C	p.Lys113Asn	p.K113N	ENST00000616714	3/12	661	523	138	430	429	1	strelka-varscan-mutect	STIM1,missense_variant,p.Lys113Asn,ENST00000616714,NM_001277961.1;STIM1,missense_variant,p.Lys113Asn,ENST00000300737,NM_003156.3;STIM1,missense_variant,p.Lys113Asn,ENST00000527651,NM_001277962.1;STIM1,missense_variant,p.Lys39Asn,ENST00000532990,;STIM1,missense_variant,p.Lys39Asn,ENST00000525403,;STIM1,missense_variant,p.Lys39Asn,ENST00000525055,;STIM1,missense_variant,p.Lys39Asn,ENST00000528656,;STIM1,missense_variant,p.Lys39Asn,ENST00000532919,;STIM1,missense_variant,p.Lys39Asn,ENST00000530554,;STIM1,missense_variant,p.Lys39Asn,ENST00000532610,;STIM1,missense_variant,p.Lys39Asn,ENST00000524822,;STIM1,non_coding_transcript_exon_variant,,ENST00000527484,;STIM1,non_coding_transcript_exon_variant,,ENST00000526771,;RPS29P20,downstream_gene_variant,,ENST00000489592,;	C	ENST00000616714	Transcript	missense_variant	907/4356	339/2376	113/791	K/N	aaG/aaC	rs777644508	1		1	STIM1	HGNC	HGNC:11386	protein_coding	YES	CCDS73247.1	ENSP00000478059		G0XQ39	UPI000217FCDA	NM_001277961.1	tolerated(0.09)		3/12		hmmpanther:PTHR15136,hmmpanther:PTHR15136:SF9																	MODERATE	1	SNV	1			1										PASS		rs777644508	.												C	3	2	107	4023941	4023941	G	C	1	0	0	0	0	1	0	0	0	15660	962	34	4		4	STIM1	11	4023941	Missense_Mutation	SNP	G	C3N-02588_TP	30	4023941	131062681	30	31969			1	38		3	3	74	G		1.025213e-08
STIM1	0	.	GRCh38	chr11	4023984	4023984	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaggcatggaagtcatcaGaaggtaataggcagcctggt	13	7	15	6	0	2	1	2	0	0	1	2	3	2	3	1	6	1	3	1	6	5	2	novel		C3N-02588_TP	C3N-02588_NB	G	G																c.382G>C	p.Glu128Gln	p.E128Q	ENST00000616714	3/12	647	511	136	467	467	0	strelka-varscan-mutect	STIM1,missense_variant,p.Glu128Gln,ENST00000616714,NM_001277961.1;STIM1,missense_variant,p.Glu128Gln,ENST00000300737,NM_003156.3;STIM1,missense_variant,p.Glu128Gln,ENST00000527651,NM_001277962.1;STIM1,missense_variant,p.Glu54Gln,ENST00000532990,;STIM1,missense_variant,p.Glu54Gln,ENST00000525403,;STIM1,missense_variant,p.Glu54Gln,ENST00000525055,;STIM1,missense_variant,p.Glu54Gln,ENST00000528656,;STIM1,missense_variant,p.Glu54Gln,ENST00000532919,;STIM1,missense_variant,p.Glu54Gln,ENST00000530554,;STIM1,missense_variant,p.Glu54Gln,ENST00000532610,;STIM1,missense_variant,p.Glu54Gln,ENST00000524822,;STIM1,non_coding_transcript_exon_variant,,ENST00000527484,;STIM1,non_coding_transcript_exon_variant,,ENST00000526771,;RPS29P20,downstream_gene_variant,,ENST00000489592,;	C	ENST00000616714	Transcript	missense_variant	950/4356	382/2376	128/791	E/Q	Gaa/Caa		1		1	STIM1	HGNC	HGNC:11386	protein_coding	YES	CCDS73247.1	ENSP00000478059		G0XQ39	UPI000217FCDA	NM_001277961.1	deleterious(0.03)		3/12		hmmpanther:PTHR15136,hmmpanther:PTHR15136:SF9,Gene3D:1.10.150.50,Superfamily_domains:SSF47769																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	107	4023984	4023984	G	C	1	0	0	0	0	1	0	0	0	15660	956	33	4		4	STIM1	11	4023984	Missense_Mutation	SNP	G	C3N-02588_TP	43	4023984	131062638	31	31970			1	38		3	3	74	G		1.025213e-08
MRVI1	0	.	GRCh38	chr11	10604415	10604415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacaattaccgtaatggaaGctttgaagttttccagttct	11	14	7	9	1	1	1	0	1	1	0	2	2	2	2	3	1	2	4	3	1	5	6	novel		C3N-02588_TP	C3N-02588_NB	G	G																c.1733C>T	p.Ala578Val	p.A578V	ENST00000423302	13/21	225	201	24	119	119	0	varscan-mutect	MRVI1,missense_variant,p.Ala263Val,ENST00000547195,NM_001206881.1;MRVI1,missense_variant,p.Ala578Val,ENST00000423302,NM_130385.3;MRVI1,missense_variant,p.Ala263Val,ENST00000424001,;MRVI1,missense_variant,p.Ala263Val,ENST00000558540,NM_001100167.2;MRVI1,missense_variant,p.Ala570Val,ENST00000531107,NM_001098579.2;MRVI1,missense_variant,p.Ala263Val,ENST00000534266,;MRVI1,missense_variant,p.Ala487Val,ENST00000527509,NM_001100163.2;MRVI1,missense_variant,p.Ala372Val,ENST00000541483,NM_001206880.1;MRVI1-AS1,downstream_gene_variant,,ENST00000525578,;MRVI1-AS1,downstream_gene_variant,,ENST00000529979,;MRVI1-AS1,downstream_gene_variant,,ENST00000529829,;LYVE1,intron_variant,,ENST00000531706,;MRVI1,missense_variant,p.Ala321Val,ENST00000526414,;MRVI1,3_prime_UTR_variant,,ENST00000529448,;	A	ENST00000423302	Transcript	missense_variant	1883/6126	1733/2739	578/912	A/V	gCt/gTt		1		-1	MRVI1	HGNC	HGNC:7237	protein_coding	YES	CCDS55746.1	ENSP00000412130	Q9Y6F6		UPI0001F78343	NM_130385.3	tolerated(0.05)		13/21		Pfam_domain:PF05781,hmmpanther:PTHR15352,hmmpanther:PTHR15352:SF2																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	107	10604415	10604415	G	A	1	0	0	0	0	1	0	0	0	9830	971	34	3		3	MRVI1	11	10604415	Missense_Mutation	SNP	G	C3N-02588_TP	6580431	10604415	124482207	32	31971											
AHNAK	0	.	GRCh38	chr11	62529364	62529364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctttaatgtcaacatctgGcactttcatttcaccttcta	9	16	3	13	0	5	0	3	0	2	0	5	0	5	0	2	1	1	1	2	1	3	6	novel		C3N-02588_TP	C3N-02588_NB	G	G																c.5053C>T	p.Pro1685Ser	p.P1685S	ENST00000378024	5/5	764	639	125	432	432	0	strelka-varscan-mutect	AHNAK,missense_variant,p.Pro1685Ser,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,downstream_gene_variant,,ENST00000530285,;AHNAK,downstream_gene_variant,,ENST00000528508,;	A	ENST00000378024	Transcript	missense_variant	5328/18787	5053/17673	1685/5890	P/S	Cca/Tca		1		-1	AHNAK	HGNC	HGNC:347	protein_coding	YES	CCDS31584.1	ENSP00000367263	Q09666		UPI00004EC29C	NM_001620.2	deleterious(0.02)		5/5																			MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	107	62529364	62529364	G	A	1	0	0	0	0	1	0	0	0	491	1203	42	3		3	AHNAK	11	62529364	Missense_Mutation	SNP	G	C3N-02588_TP	51924949	62529364	72557258	33	31972											
THAP12	0	.	GRCh38	chr11	76361032	76361032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcaaatattgttggtattGcattatctcgaagaactgtc	12	15	8	6	1	2	1	1	0	1	1	4	3	2	1	0	1	2	3	0	1	6	6	rs139107723		C3N-02588_TP	C3N-02588_NB	G	G																c.242C>T	p.Ala81Val	p.A81V	ENST00000260045	3/5	160	152	8	217	214	3	varscan-mutect	THAP12,missense_variant,p.Ala81Val,ENST00000260045,NM_004705.3;THAP12,non_coding_transcript_exon_variant,,ENST00000531878,;THAP12,3_prime_UTR_variant,,ENST00000528993,;THAP12,non_coding_transcript_exon_variant,,ENST00000525277,;THAP12,upstream_gene_variant,,ENST00000529901,;	A	ENST00000260045	Transcript	missense_variant	348/3300	242/2286	81/761	A/V	gCa/gTa	rs139107723	1		-1	THAP12	HGNC	HGNC:9440	protein_coding	YES	CCDS8243.1	ENSP00000260045	O43422	A0A140VJQ7	UPI0000131030	NM_004705.3	deleterious(0.01)		3/5		Pfam_domain:PF05485,PROSITE_profiles:PS50950,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF104,SMART_domains:SM00692,SMART_domains:SM00980,Superfamily_domains:SSF57716																	MODERATE	1	SNV	1			1										PASS		rs139107723	.												A	3	1	107	76361032	76361032	G	A	1	0	0	0	0	1	0	0	0	16276	1319	46	3		3	THAP12	11	76361032	Missense_Mutation	SNP	G	C3N-02588_TP	13831668	76361032	58725590	34	31973											
MMP12	0	.	GRCh38	chr11	102872932	102872945	+	Frame_Shift_Del	DEL	GGACTCCACATCGA	GGACTCCACATCGA	-																															cctgaaatgatggacatcggGgactccacatcgaggtgcgt																								novel		C3N-02588_TP	C3N-02588_NB	GGACTCCACATCGA	GGACTCCACATCGA																c.270_283delTCGATGTGGAGTCC	p.Gly93ProfsTer23	p.G93Pfs*23	ENST00000571244	2/10	677	580	97	366	366	0	sindel-varindel-pindel	MMP12,frameshift_variant,p.Gly93ProfsTer23,ENST00000571244,NM_002426.4;	-	ENST00000571244	Transcript	frameshift_variant	367-380/1874	270-283/1413	90-95/470	PRCGVP/PX	ccTCGATGTGGAGTCCcc/cccc		1		-1	MMP12	HGNC	HGNC:7158	protein_coding	YES	CCDS73375.1	ENSP00000458585	P39900		UPI00000422BE	NM_002426.4			2/10		Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,Prints_domain:PR00138,PROSITE_patterns:PS00546,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF32,Superfamily_domains:SSF47090																	HIGH	1	deletion	1			1										PASS		.	.												-	7	5	107	102872932	102872932	GGACTCCACATCGA	-	1	0	1	0	1	0	0	0	0	9614	1232	43	0		0	MMP12	11	102872932	Frame_Shift_Del	DEL	GGACTCCACATCGA	C3N-02588_TP	26511900	102872932	32213690	35	31974			2	39	98848948	2	2	14	N	GGACTCCACATCGA_A	2.56775e-05
MMP12	0	.	GRCh38	chr11	102872945	102872945	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcggggactccacatcgAggtgcgtgcatcatctccag	9	8	11	13	3	2	0	1	0	1	0	6	2	3	1	2	3	2	1	2	3	0	0	novel		C3N-02588_TP	C3N-02588_NB	A	A																c.270T>C	p.=	p.P90P	ENST00000571244	2/10	535	504	31	291	291	0	varscan-mutect	MMP12,synonymous_variant,p.=,ENST00000571244,NM_002426.4;	G	ENST00000571244	Transcript	synonymous_variant	367/1874	270/1413	90/470	P	ccT/ccC		1		-1	MMP12	HGNC	HGNC:7158	protein_coding	YES	CCDS73375.1	ENSP00000458585	P39900		UPI00000422BE	NM_002426.4			2/10		Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,Prints_domain:PR00138,PROSITE_patterns:PS00546,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF32,Superfamily_domains:SSF47090																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	107	102872945	102872945	A	G	1	0	0	0	0	0	0	0	1	9614	291	11	5		5	MMP12	11	102872945	Silent	SNP	A	C3N-02588_TP	13	102872945	32213677	36	31975			2	39	98848948	2	2	14	N	GGACTCCACATCGA_A	2.56775e-05
NFRKB	0	.	GRCh38	chr11	129865902	129865902	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggttgcctttgatgaTgggggctgtgaccacgctct	6	12	13	10	1	1	3	0	3	1	0	2	3	2	3	3	3	1	3	3	3	1	2	rs371917436		C3N-02588_TP	C3N-02588_NB	T	T																c.3688A>G	p.Ile1230Val	p.I1230V	ENST00000524794	23/25	386	304	82	139	138	1	strelka-varscan-mutect	NFRKB,missense_variant,p.Ile1205Val,ENST00000446488,NM_001143835.1;NFRKB,missense_variant,p.Ile1230Val,ENST00000524794,NM_006165.3;NFRKB,missense_variant,p.Ile1205Val,ENST00000524746,;NFRKB,downstream_gene_variant,,ENST00000531755,;	C	ENST00000524794	Transcript	missense_variant	3809/4351	3688/3975	1230/1324	I/V	Atc/Gtc	rs371917436	1		-1	NFRKB	HGNC	HGNC:7802	protein_coding	YES	CCDS8483.1	ENSP00000436926	Q6P4R8		UPI000006E542	NM_006165.3	deleterious_low_confidence(0)		23/25																			MODERATE	1	SNV	1			1										PASS		rs371917436	.												C	3	2	107	129865902	129865902	T	C	1	0	0	0	0	1	0	0	0	10420	1464	51	5		5	NFRKB	11	129865902	Missense_Mutation	SNP	T	C3N-02588_TP	26992957	129865902	5220720	37	31976											
NUFIP1	0	.	GRCh38	chr13	44949744	44949744	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctcactctctgacccTgaaagactgccatagctact	9	11	7	14	0	3	3	1	2	2	1	4	3	3	3	2	1	3	2	2	1	3	2	rs563561324		C3N-02588_TP	C3N-02588_NB	T	T																c.1116A>G	p.=	p.S372S	ENST00000379161	8/10	125	116	9	100	99	1	varscan-mutect	NUFIP1,synonymous_variant,p.=,ENST00000379161,NM_012345.2;	C	ENST00000379161	Transcript	synonymous_variant	1163/3492	1116/1488	372/495	S	tcA/tcG	rs563561324,COSM403671	1		-1	NUFIP1	HGNC	HGNC:8057	protein_coding	YES	CCDS9393.1	ENSP00000368459	Q9UHK0		UPI000013C768	NM_012345.2			8/10		Low_complexity_(Seg):seg,hmmpanther:PTHR13309											0,1						LOW	1	SNV	1		0,1	1										PASS		rs563561324	.												C	2	2	107	44949744	44949744	T	C	1	0	0	0	0	0	0	0	1	10812	1567	55	5		5	NUFIP1	13	44949744	Silent	SNP	T	C3N-02588_TP		44949744	69414584	38	31977											
INF2	0	.	GRCh38	chr14	104708434	104708435	+	Splice_Site	DEL	AG	AG	-																															tggccgtgtccccacccgacAgagcacaactctatgtgggc																								novel		C3N-02588_TP	C3N-02588_NB	AG	AG																c.1736_1737delAG	p.Glu579AlafsTer70	p.X579_splice	ENST00000392634		166	131	35	99	99	0	sindel-varindel-pindel	INF2,splice_acceptor_variant,p.Glu579AlafsTer70,ENST00000330634,NM_001031714.3;INF2,splice_acceptor_variant,p.Glu579AlafsTer70,ENST00000392634,NM_022489.3;INF2,splice_acceptor_variant,p.Glu47AlafsTer70,ENST00000252527,;INF2,splice_acceptor_variant,,ENST00000617571,;INF2,downstream_gene_variant,,ENST00000398337,NM_032714.2;INF2,non_coding_transcript_exon_variant,,ENST00000474229,;INF2,upstream_gene_variant,,ENST00000480763,;INF2,upstream_gene_variant,,ENST00000477497,;	-	ENST00000392634	Transcript	splice_acceptor_variant	-/4672	1736/3750	579/1249				1		1	INF2	HGNC	HGNC:23791	protein_coding	YES	CCDS9989.2	ENSP00000376410	Q27J81		UPI000156D0FB	NM_022489.3				8/22																		HIGH	1	deletion	5	2		1										PASS		.	.												-	8	5	107	104708434	104708434	AG	-	1	0	1	0	1	0	0	1	0	7636	202	7	0		0	INF2	14	104708434	Splice_Site	DEL	AG	C3N-02588_TP		104708434	2335284	39	31978											
INF2	0	.	GRCh38	chr14	104709679	104709679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggccagcgccgaccacttCtacctcctcctgctggccat	5	9	8	19	2	1	0	0	0	1	0	3	1	3	0	7	2	3	1	7	2	1	2	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.2112C>G	p.Phe704Leu	p.F704L	ENST00000392634	12/23	398	319	79	169	169	0	strelka-varscan-mutect	INF2,missense_variant,p.Phe704Leu,ENST00000330634,NM_001031714.3;INF2,missense_variant,p.Phe704Leu,ENST00000392634,NM_022489.3;INF2,missense_variant,p.Phe172Leu,ENST00000252527,;INF2,5_prime_UTR_variant,,ENST00000617571,;INF2,downstream_gene_variant,,ENST00000398337,NM_032714.2;INF2,non_coding_transcript_exon_variant,,ENST00000474229,;INF2,upstream_gene_variant,,ENST00000480763,;INF2,upstream_gene_variant,,ENST00000477497,;	G	ENST00000392634	Transcript	missense_variant	2224/4672	2112/3750	704/1249	F/L	ttC/ttG		1		1	INF2	HGNC	HGNC:23791	protein_coding	YES	CCDS9989.2	ENSP00000376410	Q27J81		UPI000156D0FB	NM_022489.3	deleterious(0.01)		12/23		PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF5,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	107	104709679	104709679	C	G	1	0	0	0	0	1	0	0	0	7636	912	32	4		4	INF2	14	104709679	Missense_Mutation	SNP	C	C3N-02588_TP	1245	104709679	2334039	40	31979											
NTN3	0	.	GRCh38	chr16	2471990	2471990	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgctggcgctcggagTccctgcctcgggcgcccctc	1	9	13	18	4	1	0	0	0	1	0	5	1	2	1	4	3	2	2	4	3	0	0	novel		C3N-02588_TP	C3N-02588_NB	T	T																c.289T>A	p.Ser97Thr	p.S97T	ENST00000293973	1/6	195	175	20	79	79	0	strelka-varscan-mutect	NTN3,missense_variant,p.Ser97Thr,ENST00000293973,NM_006181.2;TBC1D24,upstream_gene_variant,,ENST00000567020,NM_020705.2;TBC1D24,upstream_gene_variant,,ENST00000293970,NM_001199107.1;RP11-715J22.6,upstream_gene_variant,,ENST00000561847,;RP11-715J22.2,upstream_gene_variant,,ENST00000563775,;TBC1D24,upstream_gene_variant,,ENST00000630263,;TBC1D24,upstream_gene_variant,,ENST00000569874,;	A	ENST00000293973	Transcript	missense_variant	492/1986	289/1743	97/580	S/T	Tcc/Acc		1		1	NTN3	HGNC	HGNC:8030	protein_coding	YES	CCDS10469.1	ENSP00000293973	O00634		UPI000006ED30	NM_006181.2	tolerated(0.75)		1/6		PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF292,Pfam_domain:PF00055,SMART_domains:SM00136																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	107	2471990	2471990	T	A	1	0	0	0	0	1	0	0	0	10766	1667	58	4		4	NTN3	16	2471990	Missense_Mutation	SNP	T	C3N-02588_TP		2471990	87866355	41	31980											
IL32	0	.	GRCh38	chr16	3069048	3069048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acggtgccgaggcaacagatCccctgtcccggatgttgagg	8	7	14	12	3	0	2	0	1	0	1	2	4	2	3	4	4	2	2	4	4	1	1	rs768089141		C3N-02588_TP	C3N-02588_NB	C	C																c.398C>T	p.Ser133Phe	p.S133F	ENST00000534507	6/6	222	200	22	134	134	0	varscan-mutect	IL32,missense_variant,p.Ser87Phe,ENST00000525643,;IL32,missense_variant,p.Ser87Phe,ENST00000526464,;IL32,missense_variant,p.Ser133Phe,ENST00000534507,;IL32,missense_variant,p.Ser87Phe,ENST00000325568,NM_001012718.1,NM_004221.4;IL32,missense_variant,p.Ser133Phe,ENST00000396890,;IL32,missense_variant,p.Ser67Phe,ENST00000008180,NM_001012634.1;IL32,missense_variant,p.Ser67Phe,ENST00000613483,;IL32,missense_variant,p.Ser133Phe,ENST00000548476,;IL32,missense_variant,p.Ser87Phe,ENST00000528163,NM_001012631.1;IL32,missense_variant,p.Ser87Phe,ENST00000440815,;IL32,missense_variant,p.Ser87Phe,ENST00000444393,;IL32,missense_variant,p.Ser78Phe,ENST00000382213,NM_001012636.1;IL32,missense_variant,p.Ser87Phe,ENST00000533097,;IL32,missense_variant,p.Ser78Phe,ENST00000548652,;IL32,missense_variant,p.Ser133Phe,ENST00000548807,;IL32,missense_variant,p.Ser124Phe,ENST00000551513,;IL32,missense_variant,p.Ser87Phe,ENST00000396887,NM_001012633.1;IL32,missense_variant,p.Ser67Phe,ENST00000530890,NM_001012635.1;IL32,missense_variant,p.Ser87Phe,ENST00000529550,;IL32,missense_variant,p.Ser77Phe,ENST00000531965,;IL32,missense_variant,p.Ser87Phe,ENST00000551122,;IL32,missense_variant,p.Ser87Phe,ENST00000552664,NM_001012632.1;IL32,missense_variant,p.Ser111Phe,ENST00000552936,;IL32,missense_variant,p.Ser87Phe,ENST00000530538,;IL32,missense_variant,p.Ser67Phe,ENST00000529699,;IL32,missense_variant,p.Ser87Phe,ENST00000549213,;IL32,missense_variant,p.Ser67Phe,ENST00000552356,;IL32,missense_variant,p.Ser58Phe,ENST00000525228,;IL32,missense_variant,p.Ser47Phe,ENST00000548246,;IL32,intron_variant,,ENST00000525377,;RNU1-125P,upstream_gene_variant,,ENST00000516752,;IL32,non_coding_transcript_exon_variant,,ENST00000525003,;IL32,non_coding_transcript_exon_variant,,ENST00000528652,;IL32,downstream_gene_variant,,ENST00000532247,;IL32,downstream_gene_variant,,ENST00000532086,;IL32,downstream_gene_variant,,ENST00000534748,;	T	ENST00000534507	Transcript	missense_variant	609/1112	398/705	133/234	S/F	tCc/tTc	rs768089141,COSM3888434	1		1	IL32	HGNC	HGNC:16830	protein_coding	YES	CCDS76811.1	ENSP00000431775	P24001		UPI0000070836		tolerated(0.08)		6/6		Pfam_domain:PF15225											0,1						MODERATE	1	SNV	2		0,1	1										PASS		rs768089141	.												T	3	4	107	3069048	3069048	C	T	1	0	0	0	0	1	0	0	0	7591	855	30	3		3	IL32	16	3069048	Missense_Mutation	SNP	C	C3N-02588_TP	597058	3069048	87269297	42	31981											
GDE1	0	.	GRCh38	chr16	19503513	19503513	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaccatgctgtcagtgataTagctggaaccaagatgggat	12	10	11	8	0	1	2	1	1	0	1	1	4	1	4	2	2	4	2	2	2	5	3			C3N-02588_TP	C3N-02588_NB	T	T																c.953A>G	p.Tyr318Cys	p.Y318C	ENST00000353258	6/6	296	253	43	136	136	0	strelka-varscan-mutect	GDE1,missense_variant,p.Tyr318Cys,ENST00000353258,NM_001324066.1,NM_016641.3;TMC5,downstream_gene_variant,,ENST00000396229,NM_001105248.1;TMC5,downstream_gene_variant,,ENST00000542583,NM_001261841.1;TMC5,downstream_gene_variant,,ENST00000381414,NM_001105249.1;TMC5,downstream_gene_variant,,ENST00000219821,NM_024780.4;GDE1,downstream_gene_variant,,ENST00000569899,;GDE1,downstream_gene_variant,,ENST00000569773,;RNU4-46P,downstream_gene_variant,,ENST00000410818,;CTA-363E6.7,downstream_gene_variant,,ENST00000569345,;CTA-363E6.8,upstream_gene_variant,,ENST00000623745,;GDE1,3_prime_UTR_variant,,ENST00000564172,;GDE1,non_coding_transcript_exon_variant,,ENST00000563645,;	C	ENST00000353258	Transcript	missense_variant	1134/2958	953/996	318/331	Y/C	tAt/tGt	COSM1518482	1		-1	GDE1	HGNC	HGNC:29644	protein_coding	YES	CCDS10578.1	ENSP00000261386	Q9NZC3		UPI000003776E	NM_001324066.1,NM_016641.3	deleterious(0)		6/6		Gene3D:3.20.20.190,PROSITE_profiles:PS51704,hmmpanther:PTHR23344,hmmpanther:PTHR23344:SF28											1						MODERATE	1	SNV	1		1	1										PASS		rs1436465969	.												C	3	2	107	19503513	19503513	T	C	1	0	0	0	0	1	0	0	0	6182	1406	49	5		5	GDE1	16	19503513	Missense_Mutation	SNP	T	C3N-02588_TP	16434465	19503513	70834832	43	31982											
PRSS36	0	.	GRCh38	chr16	31143776	31143776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagccaaagccaaagctgGtgattcctgcctggaaccag	12	6	10	13	0	0	1	0	1	0	0	1	2	1	2	5	2	5	1	5	2	3	1	novel		C3N-02588_TP	C3N-02588_NB	G	G																c.782C>G	p.Thr261Ser	p.T261S	ENST00000268281	7/15	831	684	147	348	348	0	strelka-varscan-mutect	PRSS36,missense_variant,p.Thr261Ser,ENST00000268281,NM_173502.4;PRSS36,missense_variant,p.Thr261Ser,ENST00000569305,NM_001258290.1;PRSS36,missense_variant,p.Thr261Ser,ENST00000418068,NM_001258291.1;PRSS36,non_coding_transcript_exon_variant,,ENST00000562368,;PRSS36,upstream_gene_variant,,ENST00000563693,;PRSS36,downstream_gene_variant,,ENST00000569614,;PRSS36,upstream_gene_variant,,ENST00000571878,;	C	ENST00000268281	Transcript	missense_variant	841/2840	782/2568	261/855	T/S	aCc/aGc		1		-1	PRSS36	HGNC	HGNC:26906	protein_coding	YES	CCDS32436.1	ENSP00000268281	Q5K4E3		UPI00001FFF6A	NM_173502.4	deleterious(0.01)		7/15		PROSITE_profiles:PS50240,hmmpanther:PTHR24276,hmmpanther:PTHR24276:SF62,PIRSF_domain:PIRSF037933,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1										PASS		rs746814248	.												C	3	2	107	31143776	31143776	G	C	1	0	0	0	0	1	0	0	0	12772	1261	44	4		4	PRSS36	16	31143776	Missense_Mutation	SNP	G	C3N-02588_TP	11640263	31143776	59194569	44	31983											
CCDC102A	0	.	GRCh38	chr16	57528592	57528592	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccccgcccgcgccgcgcaCctggctgcctggcggcctct	1	5	13	22	7	1	0	0	0	1	0	1	0	1	0	7	3	1	2	7	3	0	0	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.585+1G>T		p.X195_splice	ENST00000258214		87	63	24	34	34	0	strelka-varscan-mutect	CCDC102A,splice_donor_variant,,ENST00000258214,NM_033212.3;	A	ENST00000258214	Transcript	splice_donor_variant	-/2463	585/1653	195/550				1		-1	CCDC102A	HGNC	HGNC:28097	protein_coding	YES	CCDS10784.1	ENSP00000258214	Q96A19		UPI000013CFBA	NM_033212.3				2/8																		HIGH	1	SNV	1			1										PASS		.	.												A	5	1	107	57528592	57528592	C	A	1	0	0	0	0	0	0	1	0	2434	521	18	2		2	CCDC102A	16	57528592	Splice_Site	SNP	C	C3N-02588_TP	26384816	57528592	32809753	45	31984											
CHTF8	0	.	GRCh38	chr16	69120144	69120144	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctcttggaaaagaagcCatacttgggtcacgagcacc	12	8	9	12	1	2	1	1	0	1	1	3	3	3	2	3	2	3	1	3	2	4	3	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.206G>A	p.Trp69Ter	p.W69*	ENST00000523421	4/5	185	129	56	113	113	0	strelka-varscan-mutect	CHTF8,stop_gained,p.Trp69Ter,ENST00000523421,;CHTF8,missense_variant,p.Met95Ile,ENST00000306585,;CHTF8,3_prime_UTR_variant,,ENST00000448552,NM_001039690.3;CHTF8,3_prime_UTR_variant,,ENST00000398235,NM_001040146.3;CHTF8,3_prime_UTR_variant,,ENST00000519520,;CHTF8,3_prime_UTR_variant,,ENST00000522497,;CHTF8,3_prime_UTR_variant,,ENST00000567763,;CHTF8,intron_variant,,ENST00000518041,;HAS3,downstream_gene_variant,,ENST00000306560,NM_005329.2;HAS3,downstream_gene_variant,,ENST00000569188,NM_001199280.1;HAS3,downstream_gene_variant,,ENST00000219322,NM_138612.2;CHTF8,downstream_gene_variant,,ENST00000522091,;CHTF8,downstream_gene_variant,,ENST00000520529,;CHTF8,3_prime_UTR_variant,,ENST00000519534,;	T	ENST00000523421	Transcript	stop_gained	325/766	206/228	69/75	W/*	tGg/tAg		1		-1	CHTF8	HGNC	HGNC:24353	protein_coding			ENSP00000430899		E5RHL4	UPI0000489694				4/5																			HIGH		SNV	3			1										PASS		.	.												T	4	4	107	69120144	69120144	C	T	1	0	0	0	0	0	1	0	0	3175	595	21	3		3	CHTF8	16	69120144	Nonsense_Mutation	SNP	C	C3N-02588_TP	11591552	69120144	21218201	46	31985											
TP53	0	.	GRCh38	chr17	7674872	7674872	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		C3N-02588_TP	C3N-02588_NB	T	T																c.659A>G	p.Tyr220Cys	p.Y220C	ENST00000269305	6/11	806	615	191	383	383	0	strelka-varscan-mutect	TP53,missense_variant,p.Tyr220Cys,ENST00000617185,NM_001126114.2;TP53,missense_variant,p.Tyr220Cys,ENST00000420246,;TP53,missense_variant,p.Tyr181Cys,ENST00000622645,NM_001276696.1;TP53,missense_variant,p.Tyr181Cys,ENST00000610292,NM_001126118.1;TP53,missense_variant,p.Tyr220Cys,ENST00000455263,NM_001126113.2;TP53,missense_variant,p.Tyr181Cys,ENST00000610538,NM_001276695.1;TP53,missense_variant,p.Tyr220Cys,ENST00000269305,NM_001126112.2,NM_000546.5;TP53,missense_variant,p.Tyr181Cys,ENST00000620739,NM_001276760.1,NM_001276761.1;TP53,missense_variant,p.Tyr220Cys,ENST00000445888,;TP53,missense_variant,p.Tyr181Cys,ENST00000619485,;TP53,missense_variant,p.Tyr88Cys,ENST00000510385,NM_001126116.1;TP53,missense_variant,p.Tyr61Cys,ENST00000618944,NM_001276698.1;TP53,missense_variant,p.Tyr88Cys,ENST00000504290,NM_001126117.1;TP53,missense_variant,p.Tyr61Cys,ENST00000610623,NM_001276699.1;TP53,missense_variant,p.Tyr88Cys,ENST00000504937,NM_001126115.1;TP53,missense_variant,p.Tyr61Cys,ENST00000619186,NM_001276697.1;TP53,missense_variant,p.Tyr220Cys,ENST00000359597,;TP53,missense_variant,p.Tyr209Cys,ENST00000615910,;TP53,missense_variant,p.Tyr220Cys,ENST00000413465,;TP53,missense_variant,p.Tyr88Cys,ENST00000509690,;TP53,missense_variant,p.Tyr127Cys,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,missense_variant,p.Tyr181Cys,ENST00000635293,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;	C	ENST00000269305	Transcript	missense_variant	849/2579	659/1182	220/393	Y/C	tAt/tGt	rs121912666,CM015378,CM951227,TP53_g.12728A>T,TP53_g.12728A>C,TP53_g.12728A>G,COSM10758,COSM1644277,COSM251426,COSM251427,COSM251428,COSM3355993,COSM3675522,COSM3675523,COSM43850,COSM99718,COSM99719,COSM99720	1		-1	TP53	HGNC	HGNC:11998	protein_coding	YES	CCDS11118.1	ENSP00000269305	P04637	K7PPA8	UPI000002ED67	NM_001126112.2,NM_000546.5	deleterious(0)		6/11		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417,Prints_domain:PR00386										pathogenic	0,0,0,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1	25404506					MODERATE	1	SNV	1		1,1,1,0,0,0,1,1,1,1,1,1,1,1,1,1,1,1	1										PASS		rs121912666	.												C	3	2	107	7674872	7674872	T	C	1	0	0	0	0	1	0	0	0	16859	1406	49	5		5	TP53	17	7674872	Missense_Mutation	SNP	T	C3N-02588_TP		7674872	75582569	47	31986											
DNAH2	0	.	GRCh38	chr17	7770844	7770844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcaaggcctttgagaagGatgtggaccactgggaacgc	10	9	14	8	1	1	1	1	1	0	1	1	5	1	4	2	4	1	0	2	4	3	2	novel		C3N-02588_TP	C3N-02588_NB	G	G																c.4273G>T	p.Asp1425Tyr	p.D1425Y	ENST00000572933	27/86	447	346	101	262	262	0	strelka-varscan-mutect	DNAH2,missense_variant,p.Asp1425Tyr,ENST00000572933,NM_020877.3;DNAH2,missense_variant,p.Asp1425Tyr,ENST00000389173,;DNAH2,3_prime_UTR_variant,,ENST00000574518,;	T	ENST00000572933	Transcript	missense_variant	5733/14955	4273/13284	1425/4427	D/Y	Gat/Tat		1		1	DNAH2	HGNC	HGNC:2948	protein_coding	YES	CCDS32551.1	ENSP00000458355	Q9P225		UPI00005B2F0D	NM_020877.3	deleterious(0.01)		27/86		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Pfam_domain:PF08393																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	107	7770844	7770844	G	T	1	0	0	0	0	1	0	0	0	4417	1174	41	2		2	DNAH2	17	7770844	Missense_Mutation	SNP	G	C3N-02588_TP	95972	7770844	75486597	48	31987											
CENPV	0	.	GRCh38	chr17	16353386	16353386	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggccgcggaggccccggaCcgcttctgcccgcgcagctt	3	5	16	17	6	1	0	0	0	1	0	1	2	1	2	5	5	2	3	5	5	0	2	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.51G>C	p.=	p.R17R	ENST00000299736	1/5	32	28	4	35	35	0	varscan-mutect	CENPV,synonymous_variant,p.=,ENST00000299736,NM_181716.2;PIGL,downstream_gene_variant,,ENST00000581006,;PIGL,downstream_gene_variant,,ENST00000613719,;CENPV,upstream_gene_variant,,ENST00000631687,;CENPV,synonymous_variant,p.=,ENST00000476243,;CENPV,non_coding_transcript_exon_variant,,ENST00000584214,;CENPV,intron_variant,,ENST00000582062,;CENPV,upstream_gene_variant,,ENST00000482983,;	G	ENST00000299736	Transcript	synonymous_variant	114/1165	51/819	17/272	R	cgG/cgC		1		-1	CENPV	HGNC	HGNC:29920	protein_coding	YES	CCDS32575.1	ENSP00000299736	Q7Z7K6		UPI000015FC7D	NM_181716.2			1/5		Low_complexity_(Seg):seg																	LOW	1	SNV	1			1										PASS		rs1283377070	.												G	2	3	107	16353386	16353386	C	G	1	0	0	0	0	0	0	0	1	2952	494	18	4		4	CENPV	17	16353386	Silent	SNP	C	C3N-02588_TP	8582542	16353386	66904055	49	31988											
SLC4A1	0	.	GRCh38	chr17	44260744	44260744	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctccagttgcacccaGcgcgccgcctccatccatct	5	10	6	20	3	2	0	0	0	2	0	6	0	5	0	7	0	2	2	7	0	0	2	novel		C3N-02588_TP	C3N-02588_NB	G	G																c.240C>A	p.=	p.R80R	ENST00000262418	5/20	972	802	170	351	351	0	strelka-varscan-mutect	SLC4A1,synonymous_variant,p.=,ENST00000262418,NM_000342.3;SLC4A1,synonymous_variant,p.=,ENST00000399246,;SLC4A1,non_coding_transcript_exon_variant,,ENST00000471005,;SLC4A1,non_coding_transcript_exon_variant,,ENST00000497360,;SLC4A1,downstream_gene_variant,,ENST00000498270,;	T	ENST00000262418	Transcript	synonymous_variant	396/4965	240/2736	80/911	R	cgC/cgA		1		-1	SLC4A1	HGNC	HGNC:11027	protein_coding	YES	CCDS11481.1	ENSP00000262418	P02730		UPI00000375B8	NM_000342.3			5/20		Gene3D:1hynR00,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834																	LOW	1	SNV	1			1										PASS		.	.												T	2	4	107	44260744	44260744	G	T	1	0	0	0	0	0	0	0	1	14927	958	34	2		2	SLC4A1	17	44260744	Silent	SNP	G	C3N-02588_TP	27907358	44260744	38996697	50	31989											
MED13	0	.	GRCh38	chr17	61955452	61955452	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctacttgcacagaagcAgaagtaggaaacacaagtat	18	6	10	7	0	0	2	0	0	0	2	0	4	0	3	0	1	5	5	0	1	8	4	novel		C3N-02588_TP	C3N-02588_NB	A	A																c.5898T>C	p.=	p.S1966S	ENST00000397786	26/30	68	49	19	75	75	0	strelka-varscan-mutect	MED13,synonymous_variant,p.=,ENST00000397786,NM_005121.2;MED13,non_coding_transcript_exon_variant,,ENST00000582786,;	G	ENST00000397786	Transcript	synonymous_variant	5975/10465	5898/6525	1966/2174	S	tcT/tcC		1		-1	MED13	HGNC	HGNC:22474	protein_coding	YES	CCDS42366.1	ENSP00000380888	Q9UHV7	A0A024QZ75	UPI0000D7D6F6	NM_005121.2			26/30		hmmpanther:PTHR10791:SF51,hmmpanther:PTHR10791,Pfam_domain:PF06333																	LOW	1	SNV	1			1										PASS		.	.												G	2	3	107	61955452	61955452	A	G	1	0	0	0	0	0	0	0	1	9369	175	7	5		5	MED13	17	61955452	Silent	SNP	A	C3N-02588_TP	17694708	61955452	21301989	51	31990											
CD79B	0	.	GRCh38	chr17	63930076	63930076	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacctggcacacacccAtgactcgcagctctgtgccg	8	6	9	18	2	1	1	0	1	1	0	2	1	1	1	4	1	3	3	4	1	0	0	rs755181653		C3N-02588_TP	C3N-02588_NB	A	A																c.431T>G	p.Met144Arg	p.M144R	ENST00000392795	3/6	931	772	159	388	388	0	strelka-varscan-mutect	CD79B,missense_variant,p.Met143Arg,ENST00000006750,NM_000626.2;CD79B,missense_variant,p.Met144Arg,ENST00000392795,NM_001039933.1;CD79B,intron_variant,,ENST00000349817,NM_021602.2;CD79B,splice_region_variant,,ENST00000559358,;CD79B,downstream_gene_variant,,ENST00000558969,;CD79B,downstream_gene_variant,,ENST00000583260,;	C	ENST00000392795	Transcript	missense_variant,splice_region_variant	506/1254	431/693	144/230	M/R	aTg/aGg	rs755181653	1		-1	CD79B	HGNC	HGNC:1699	protein_coding	YES	CCDS42372.1	ENSP00000376544	P40259		UPI00001B2490	NM_001039933.1	deleterious(0)		3/6		hmmpanther:PTHR14334:SF2,hmmpanther:PTHR14334,SMART_domains:SM00409																	MODERATE	1	SNV	1			1										PASS		rs755181653	.												C	3	2	107	63930076	63930076	A	C	1	0	0	0	0	1	0	0	0	2741	231	8	5		5	CD79B	17	63930076	Missense_Mutation	SNP	A	C3N-02588_TP	1974624	63930076	19327365	52	31991											
UNK	0	.	GRCh38	chr17	75784921	75784921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcggctccgcagcttcctCggcgcccccggccgctaccg	2	5	13	21	8	0	0	0	0	0	0	3	0	2	0	6	4	2	4	6	4	1	2	rs75277629		C3N-02588_TP	C3N-02588_NB	C	C																c.41C>T	p.Ser14Leu	p.S14L	ENST00000589666	1/16	350	275	75	116	116	0	strelka-varscan-mutect	UNK,missense_variant,p.Ser14Leu,ENST00000589666,NM_001080419.2;H3F3B,intron_variant,,ENST00000586607,;H3F3B,upstream_gene_variant,,ENST00000579134,;UNK,missense_variant,p.Ser14Leu,ENST00000586527,;UNK,missense_variant,p.Ser14Leu,ENST00000587501,;UNK,missense_variant,p.Ser14Leu,ENST00000592629,;H3F3B,non_coding_transcript_exon_variant,,ENST00000591893,;UNK,non_coding_transcript_exon_variant,,ENST00000589790,;	T	ENST00000589666	Transcript	missense_variant	151/3925	41/2433	14/810	S/L	tCg/tTg	rs75277629,COSM396981	1		1	UNK	HGNC	HGNC:29369	protein_coding	YES	CCDS45778.2	ENSP00000464893	Q9C0B0	A0A024R8N4	UPI00001C1FC3	NM_001080419.2	tolerated_low_confidence(0.39)		1/16		Low_complexity_(Seg):seg,hmmpanther:PTHR14493:SF36,hmmpanther:PTHR14493											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs75277629	.												T	3	4	107	75784921	75784921	C	T	1	0	0	0	0	1	0	0	0	17526	893	31	1		1	UNK	17	75784921	Missense_Mutation	SNP	C	C3N-02588_TP	11854845	75784921	7472520	53	31992											
MPPE1	0	.	GRCh38	chr18	11886515	11886515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccttttgtgatgcctccCgtgaaagcacgtcatagttc	10	12	8	11	2	1	2	1	2	0	0	3	2	2	2	3	0	3	2	3	0	3	4	rs145870573		C3N-02588_TP	C3N-02588_NB	C	C																c.851G>A	p.Arg284Gln	p.R284Q	ENST00000588072	9/11	633	514	119	259	259	0	strelka-varscan-mutect	MPPE1,missense_variant,p.Arg284Gln,ENST00000588072,NM_023075.5;MPPE1,missense_variant,p.Arg262Gln,ENST00000344987,;MPPE1,missense_variant,p.Arg284Gln,ENST00000592977,;MPPE1,missense_variant,p.Arg105Gln,ENST00000587724,;MPPE1,intron_variant,,ENST00000317235,;MPPE1,intron_variant,,ENST00000309976,NM_001242904.1;GNAL,downstream_gene_variant,,ENST00000334049,NM_182978.3;GNAL,downstream_gene_variant,,ENST00000423027,;MPPE1,downstream_gene_variant,,ENST00000588191,;MPPE1,downstream_gene_variant,,ENST00000588186,;MPPE1,downstream_gene_variant,,ENST00000589267,;MPPE1,downstream_gene_variant,,ENST00000592331,;MPPE1,upstream_gene_variant,,ENST00000592755,;MPPE1,downstream_gene_variant,,ENST00000586364,;MPPE1,missense_variant,p.Arg284Gln,ENST00000496196,;MPPE1,missense_variant,p.Arg187Gln,ENST00000317251,;MPPE1,missense_variant,p.Arg64Gln,ENST00000592306,;MPPE1,non_coding_transcript_exon_variant,,ENST00000592447,;MPPE1,non_coding_transcript_exon_variant,,ENST00000589731,;MPPE1,non_coding_transcript_exon_variant,,ENST00000592894,;	T	ENST00000588072	Transcript	missense_variant	2073/4236	851/1191	284/396	R/Q	cGg/cAg	rs145870573	1		-1	MPPE1	HGNC	HGNC:15988	protein_coding	YES	CCDS11853.1	ENSP00000465894	Q53F39		UPI000013DDD8	NM_023075.5	tolerated(0.92)		9/11		hmmpanther:PTHR13315:SF0,hmmpanther:PTHR13315,Gene3D:3.60.21.10,Pfam_domain:PF00149,Superfamily_domains:SSF56300																	MODERATE	1	SNV	1			1										PASS		rs145870573	.												T	3	4	107	11886515	11886515	C	T	1	0	0	0	0	1	0	0	0	9706	652	23	1		1	MPPE1	18	11886515	Missense_Mutation	SNP	C	C3N-02588_TP		11886515	68486770	54	31993											
NCOA6	0	.	GRCh38	chr20	34757533	34757533	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccctccctgcaaactCttcatctgaggagctgtgaa	9	9	11	12	0	3	2	1	2	2	0	4	4	4	3	2	2	3	2	2	2	2	1	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.1215G>T	p.Lys405Asn	p.K405N	ENST00000374796	8/16	233	180	53	140	140	0	strelka-varscan-mutect	NCOA6,missense_variant,p.Lys405Asn,ENST00000374796,NM_001318240.1;NCOA6,missense_variant,p.Lys405Asn,ENST00000359003,NM_014071.3;NCOA6,missense_variant,p.Lys405Asn,ENST00000612493,NM_001242539.1;NCOA6,missense_variant,p.Lys405Asn,ENST00000616167,;	A	ENST00000374796	Transcript	missense_variant	3786/9311	1215/6192	405/2063	K/N	aaG/aaT		1		-1	NCOA6	HGNC	HGNC:15936	protein_coding	YES	CCDS13241.1	ENSP00000363929	Q14686		UPI000013C634	NM_001318240.1	deleterious(0)		8/16		hmmpanther:PTHR15690,hmmpanther:PTHR15690:SF0																	MODERATE	1	SNV	1			1										PASS		rs1320282322	.												A	3	1	107	34757533	34757533	C	A	1	0	0	0	0	1	0	0	0	10252	912	32	2		2	NCOA6	20	34757533	Missense_Mutation	SNP	C	C3N-02588_TP		34757533	29686634	55	31994											
CDH22	0	.	GRCh38	chr20	46216892	46216892	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacggtagtggagcccgAgaggccacccagctgacccg	8	4	16	13	3	0	3	0	2	0	1	0	5	0	4	4	4	2	2	4	4	1	1	novel		C3N-02588_TP	C3N-02588_NB	A	A																c.772T>C	p.Ser258Pro	p.S258P	ENST00000537909	5/12	228	202	26	104	104	0	strelka-varscan-mutect	CDH22,missense_variant,p.Ser258Pro,ENST00000537909,NM_021248.2;CDH22,missense_variant,p.Ser258Pro,ENST00000372262,;CDH22,non_coding_transcript_exon_variant,,ENST00000474438,;	G	ENST00000537909	Transcript	missense_variant	1415/3902	772/2487	258/828	S/P	Tcg/Ccg		1		-1	CDH22	HGNC	HGNC:13251	protein_coding	YES	CCDS13395.1	ENSP00000437790	Q9UJ99		UPI0000126DC0	NM_021248.2	deleterious(0)		5/12		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF311,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205																	MODERATE	1	SNV	2			1										PASS		.	.												G	3	3	107	46216892	46216892	A	G	1	0	0	0	0	1	0	0	0	2810	304	11	5		5	CDH22	20	46216892	Missense_Mutation	SNP	A	C3N-02588_TP	11459359	46216892	18227275	56	31995											
MYT1	0	.	GRCh38	chr20	64213578	64213578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgccgaaaaattagccaaatCccatgagaagcagcagccgc	15	4	9	13	3	0	1	0	1	0	1	1	3	1	1	4	0	4	2	4	0	5	1	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.1562C>T	p.Ser521Phe	p.S521F	ENST00000328439	10/23	483	424	59	243	243	0	strelka-varscan-mutect	MYT1,missense_variant,p.Ser521Phe,ENST00000536311,;MYT1,missense_variant,p.Ser521Phe,ENST00000328439,NM_004535.2;MYT1,missense_variant,p.Ser223Phe,ENST00000622439,;MYT1,missense_variant,p.Ser223Phe,ENST00000360149,;	T	ENST00000328439	Transcript	missense_variant	1926/5535	1562/3366	521/1121	S/F	tCc/tTc		1		1	MYT1	HGNC	HGNC:7622	protein_coding	YES	CCDS13558.1	ENSP00000327465	Q01538		UPI000012FBFA	NM_004535.2	deleterious(0.02)		10/23		Superfamily_domains:0042508,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	107	64213578	64213578	C	T	1	0	0	0	0	1	0	0	0	10105	855	30	3		3	MYT1	20	64213578	Missense_Mutation	SNP	C	C3N-02588_TP	17996686	64213578	230589	57	31996											
ATP6V1E1	0	.	GRCh38	chr22	17613287	17613287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtctttgggtttgcacaaGccgacctttctctatgttga	7	16	9	9	1	2	1	0	1	2	0	3	2	2	1	2	1	2	3	2	1	3	6	novel		C3N-02588_TP	C3N-02588_NB	G	G																c.133C>T	p.Leu45Phe	p.L45F	ENST00000253413	3/9	268	243	25	245	245	0	varscan-mutect	ATP6V1E1,missense_variant,p.Leu45Phe,ENST00000253413,NM_001696.3;ATP6V1E1,missense_variant,p.Leu45Phe,ENST00000399796,NM_001039367.1;ATP6V1E1,missense_variant,p.Leu23Phe,ENST00000399798,NM_001039366.1;ATP6V1E1,missense_variant,p.Leu46Phe,ENST00000413576,;ATP6V1E1,non_coding_transcript_exon_variant,,ENST00000478963,;ATP6V1E1,non_coding_transcript_exon_variant,,ENST00000460085,;ATP6V1E1,non_coding_transcript_exon_variant,,ENST00000484653,;ATP6V1E1,non_coding_transcript_exon_variant,,ENST00000481365,;	A	ENST00000253413	Transcript	missense_variant	316/1402	133/681	45/226	L/F	Ctt/Ttt		1		-1	ATP6V1E1	HGNC	HGNC:857	protein_coding	YES	CCDS13745.1	ENSP00000253413	P36543	Q53Y06	UPI0000000C60	NM_001696.3	deleterious(0.02)		3/9		HAMAP:MF_00311,hmmpanther:PTHR12317:SF20,hmmpanther:PTHR12317,Pfam_domain:PF01991																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	107	17613287	17613287	G	A	1	0	0	0	0	1	0	0	0	1336	971	34	3		3	ATP6V1E1	22	17613287	Missense_Mutation	SNP	G	C3N-02588_TP		17613287	33205181	58	31997											
CDKL5	0	.	GRCh38	chrX	18650560	18650560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactccaggtccgaggcaCtgatgctttcagctgcccaa	9	8	10	14	1	1	1	1	1	0	0	3	3	3	1	3	2	3	3	3	2	1	1	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.2948C>T	p.Thr983Ile	p.T983I	ENST00000379989	21/22	366	300	66	161	161	0	strelka-varscan-mutect	CDKL5,missense_variant,p.Thr983Ile,ENST00000379989,NM_001037343.1;CDKL5,missense_variant,p.Thr983Ile,ENST00000379996,NM_003159.2;RS1,intron_variant,,ENST00000379984,NM_000330.3;RS1,upstream_gene_variant,,ENST00000476595,;	T	ENST00000379989	Transcript	missense_variant	3233/3463	2948/3093	983/1030	T/I	aCt/aTt		1		1	CDKL5	HGNC	HGNC:11411	protein_coding	YES	CCDS14186.1	ENSP00000369325	O76039		UPI0000136103	NM_001037343.1	deleterious_low_confidence(0)		21/22																			MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	107	18650560	18650560	C	T	1	0	0	0	0	1	0	0	0	2861	565	20	3		3	CDKL5	23	18650560	Missense_Mutation	SNP	C	C3N-02588_TP		18650560	137390335	59	31998											
RBM3	0	.	GRCh38	chrX	48576241	48576242	+	Frame_Shift_Ins	INS	-	-	CCTT																															ggcctcttttgcccacttacINSccttgcctgctcttccctca																								novel		C3N-02588_TP	C3N-02588_NB	-	-																c.57_60dupCCTT	p.Ala21ProfsTer12	p.A21Pfs*12	ENST00000354480	1/3	403	324	79	174	174	0	sindel-varindel-pindel	RBM3,frameshift_variant,p.Ala21ProfsTer12,ENST00000354480,;RBM3,intron_variant,,ENST00000376759,NM_006743.4;RBM3,intron_variant,,ENST00000376755,;RP11-1148L6.9,upstream_gene_variant,,ENST00000376775,;RP11-1148L6.5,downstream_gene_variant,,ENST00000453810,;RBM3,non_coding_transcript_exon_variant,,ENST00000485213,;RBM3,intron_variant,,ENST00000466764,;RBM3,intron_variant,,ENST00000488216,;RBM3,intron_variant,,ENST00000489344,;RBM3,intron_variant,,ENST00000490127,;RBM3,intron_variant,,ENST00000472897,;RBM3,downstream_gene_variant,,ENST00000491240,;RBM3,downstream_gene_variant,,ENST00000491236,;RP11-1148L6.8,upstream_gene_variant,,ENST00000623114,;	CCTT	ENST00000354480	Transcript	frameshift_variant	343-344/1884	56-57/468	19/155	T/TLX	acc/acCCTTc		1		1	RBM3	HGNC	HGNC:9900	protein_coding			ENSP00000346473		Q9H5V0	UPI0000073995				1/3		Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,PROSITE_profiles:PS51257,hmmpanther:PTHR13284																	HIGH		insertion	2	4		1										PASS		.	.												CCTT	7	5	107	48576241	48576241	-	CCTT	1	0	1	1	0	0	0	0	0	13295	507	18	0		0	RBM3	23	48576241	Frame_Shift_Ins	INS	-	C3N-02588_TP	29925681	48576241	107464654	60	31999											
CNGA2	0	.	GRCh38	chrX	151743692	151743692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgccgtgaaacactacatgCagttccgaaaggtcagcaag	14	7	10	10	2	1	1	1	1	0	0	2	2	2	1	2	1	5	3	2	1	4	2	novel		C3N-02588_TP	C3N-02588_NB	C	C																c.1189C>A	p.Gln397Lys	p.Q397K	ENST00000329903	6/6	329	218	111	155	155	0	strelka-varscan-mutect	CNGA2,missense_variant,p.Gln397Lys,ENST00000329903,NM_005140.1;	A	ENST00000329903	Transcript	missense_variant	1222/2834	1189/1995	397/664	Q/K	Cag/Aag		1		1	CNGA2	HGNC	HGNC:2149	protein_coding	YES	CCDS14701.1	ENSP00000328478	Q16280		UPI000003E7AE	NM_005140.1	tolerated(0.24)		6/6		hmmpanther:PTHR10217:SF389,hmmpanther:PTHR10217,Gene3D:3bpzA01,Superfamily_domains:SSF51206																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	107	151743692	151743692	C	A	1	0	0	0	0	1	0	0	0	3377	711	25	2		2	CNGA2	23	151743692	Missense_Mutation	SNP	C	C3N-02588_TP	103167451	151743692	4297203	61	32000											
GPR153	0	.	GRCh38	chr1	6253942	6253942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgatggctgtgcagatcaCgcccatggccacgctgccgc	6	6	14	15	4	1	1	1	0	0	1	1	2	1	1	3	3	2	3	3	3	0	0	rs769601920		C3N-02729_TP	C3N-02729_NB	C	C																c.562G>A	p.Val188Met	p.V188M	ENST00000377893	3/6	296	274	22	260	260	0	strelka-varscan-mutect	GPR153,missense_variant,p.Val188Met,ENST00000377893,NM_207370.2;	T	ENST00000377893	Transcript	missense_variant	822/4082	562/1830	188/609	V/M	Gtg/Atg	rs769601920,COSM5516124	1		-1	GPR153	HGNC	HGNC:23618	protein_coding	YES	CCDS64.1	ENSP00000367125	Q6NV75	A0A0I9QQ03	UPI000040E9D7	NM_207370.2	deleterious(0.04)		3/6		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01991,PROSITE_profiles:PS50262,hmmpanther:PTHR16518,hmmpanther:PTHR16518:SF5,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix											0,1						MODERATE	1	SNV	1		0,1	1										PASS		rs769601920	.												T	3	4	108	6253942	6253942	C	T	1	0	0	0	0	1	0	0	0	6545	536	19	1		1	GPR153	1	6253942	Missense_Mutation	SNP	C	C3N-02729_TP		6253942	242702480	1	32001											
MIER1	0	.	GRCh38	chr1	66958146	66958151	+	In_Frame_Del	DEL	GAAGAG	GAAGAG	-																															aagaagatgaggaagaggaaGaagaggaagaagaaggtgaa																								novel		C3N-02729_TP	C3N-02729_NB	GAAGAG	GAAGAG																c.432_437delGGAAGA	p.Glu146_Glu147del	p.E146_E147del	ENST00000401041	5/14	72	64	8	249	249	0	sindel-varindel-pindel	MIER1,inframe_deletion,p.Glu110_Glu111del,ENST00000357692,NM_001146112.1,NM_020948.3,NM_001146110.1;MIER1,inframe_deletion,p.Glu93_Glu94del,ENST00000355356,NM_001077701.2;MIER1,inframe_deletion,p.Glu110_Glu111del,ENST00000371018,NM_001146111.1;MIER1,inframe_deletion,p.Glu30_Glu31del,ENST00000355977,NM_001146113.1;MIER1,inframe_deletion,p.Glu146_Glu147del,ENST00000401041,NM_001077700.2;MIER1,inframe_deletion,p.Glu110_Glu111del,ENST00000371016,NM_001077702.2;MIER1,inframe_deletion,p.Glu146_Glu147del,ENST00000371014,NM_001077703.2;MIER1,inframe_deletion,p.Glu93_Glu94del,ENST00000401042,NM_001077704.2;MIER1,non_coding_transcript_exon_variant,,ENST00000479067,;MIER1,upstream_gene_variant,,ENST00000493357,;	-	ENST00000401041	Transcript	inframe_deletion	497-502/2552	427-432/1698	143-144/565	EE/-	GAAGAG/-		1		1	MIER1	HGNC	HGNC:29657	protein_coding	YES	CCDS53326.1	ENSP00000383820	Q8N108		UPI0000204526	NM_001077700.2			5/14		Low_complexity_(Seg):seg,hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF24																	MODERATE	1	deletion	2	5		1										PASS		.	.												-	7	5	108	66958146	66958146	GAAGAG	-	1	0	1	0	1	0	0	0	0	9543	943	33	0		0	MIER1	1	66958146	In_Frame_Del	DEL	GAAGAG	C3N-02729_TP	60704204	66958146	181998276	2	32002											
AC096949.1	0	.	GRCh38	chr1	99921637	99921637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctactattcttgagacaCtttatgatttatagtttatt	10	21	5	5	0	1	2	0	2	1	1	1	3	1	2	0	0	2	2	0	0	6	13	novel		C3N-02729_TP	C3N-02729_NB	C	C																c.4585C>T	p.Leu1529Phe	p.L1529F	ENST00000294724	34/34	58	54	4	173	173	0	varscan-mutect	AGL,missense_variant,p.Leu1529Phe,ENST00000294724,NM_000028.2;AGL,missense_variant,p.Leu1529Phe,ENST00000361915,NM_000642.2;AGL,missense_variant,p.Leu1529Phe,ENST00000370163,NM_000643.2;AGL,missense_variant,p.Leu1529Phe,ENST00000370165,NM_000644.2;AGL,missense_variant,p.Leu1513Phe,ENST00000370161,NM_000646.2;AC096949.1,missense_variant,p.Leu1512Phe,ENST00000361522,NM_000645.2;AGL,3_prime_UTR_variant,,ENST00000361302,;AGL,non_coding_transcript_exon_variant,,ENST00000637337,;	T	ENST00000294724	Transcript	missense_variant	5063/7446	4585/4599	1529/1532	L/F	Ctt/Ttt		1		1	AGL	HGNC	HGNC:321	protein_coding	YES	CCDS759.1	ENSP00000294724	P35573	A0A0S2A4E4	UPI00001694CB	NM_000028.2	deleterious(0.03)		34/34		hmmpanther:PTHR10569,TIGRFAM_domain:TIGR01531,Superfamily_domains:SSF48208																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	108	99921637	99921637	C	T	1	0	0	0	0	1	0	0	0	135	565	20	3		3	AC096949.1	1	99921637	Missense_Mutation	SNP	C	C3N-02729_TP	32963491	99921637	149034785	3	32003											
OR2T2	0	.	GRCh38	chr1	248453517	248453517	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccggcgcaaagcctttgcTacgtgttcctcccacattat	7	11	9	14	3	0	0	0	0	0	0	2	0	2	0	4	2	3	3	4	2	3	4	novel		C3N-02729_TP	C3N-02729_NB	T	T																c.720T>A	p.=	p.A240A	ENST00000342927	1/1	568	470	98	518	517	1	strelka-varscan	OR2T2,synonymous_variant,p.=,ENST00000342927,NM_001004136.1;	A	ENST00000342927	Transcript	synonymous_variant	720/975	720/975	240/324	A	gcT/gcA		1		1	OR2T2	HGNC	HGNC:14725	protein_coding	YES	CCDS31116.1	ENSP00000343062	Q6IF00		UPI0000048DB0	NM_001004136.1			1/1		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix																	LOW	1	SNV				1										PASS		.	.												A	2	1	108	248453517	248453517	T	A	1	0	0	0	0	0	0	0	1	11097	1509	53	4		4	OR2T2	1	248453517	Silent	SNP	T	C3N-02729_TP	148531880	248453517	502905	4	32004											
COPS9	0	.	GRCh38	chr2	240136263	240136263	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcgccctcggggaacaTctcgtccaccgccggcttca	5	6	11	19	6	2	0	1	0	1	0	5	1	3	1	5	4	1	1	5	4	1	1	novel		C3N-02729_TP	C3N-02729_NB	T	T																c.85A>C	p.Met29Leu	p.M29L	ENST00000307266	1/5	149	126	23	162	162	0	strelka-varscan-mutect	COPS9,missense_variant,p.Met29Leu,ENST00000307266,NM_138336.1;COPS9,missense_variant,p.Met29Leu,ENST00000403160,;COPS9,missense_variant,p.Met8Leu,ENST00000607357,NM_001163424.1;OTOS,downstream_gene_variant,,ENST00000391989,;OTOS,downstream_gene_variant,,ENST00000319460,NM_148961.3;COPS9,upstream_gene_variant,,ENST00000489698,;COPS9,upstream_gene_variant,,ENST00000491765,;	G	ENST00000307266	Transcript	missense_variant	85/759	85/759	29/252	M/L	Atg/Ctg		1		-1	COPS9	HGNC	HGNC:21314	protein_coding	YES	CCDS2532.1	ENSP00000304147	Q8WXC6		UPI0000071F75	NM_138336.1	deleterious_low_confidence(0.02)		1/5		hmmpanther:PTHR28562,hmmpanther:PTHR28562:SF1,Pfam_domain:PF15004																	MODERATE	1	SNV	1			1										PASS		.	.												G	3	3	108	240136263	240136263	T	G	1	0	0	0	0	1	0	0	0	3534	1435	50	5		5	COPS9	2	240136263	Missense_Mutation	SNP	T	C3N-02729_TP		240136263	2057266	5	32005											
WHSC1	0	.	GRCh38	chr4	1952206	1952206	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccggaggccagaagggagGttcacctgcagcgagtgtgc	8	6	16	11	2	1	1	1	0	0	1	2	4	2	3	3	4	3	2	3	4	1	1	novel		C3N-02729_TP	C3N-02729_NB	G	G																c.2112G>A	p.=	p.R704R	ENST00000382895	13/24	172	133	39	169	168	1	strelka-varscan-mutect	WHSC1,synonymous_variant,p.=,ENST00000382895,NM_133330.2;WHSC1,synonymous_variant,p.=,ENST00000382892,NM_133331.2;WHSC1,synonymous_variant,p.=,ENST00000382891,NM_133335.3;WHSC1,synonymous_variant,p.=,ENST00000508803,NM_001042424.2;WHSC1,synonymous_variant,p.=,ENST00000514329,;WHSC1,5_prime_UTR_variant,,ENST00000382888,;WHSC1,downstream_gene_variant,,ENST00000503128,;WHSC1,downstream_gene_variant,,ENST00000398261,NM_133334.2;WHSC1,non_coding_transcript_exon_variant,,ENST00000482415,;WHSC1,non_coding_transcript_exon_variant,,ENST00000505643,;WHSC1,non_coding_transcript_exon_variant,,ENST00000513726,;WHSC1,intron_variant,,ENST00000502425,;WHSC1,upstream_gene_variant,,ENST00000503207,;WHSC1,3_prime_UTR_variant,,ENST00000312087,;WHSC1,3_prime_UTR_variant,,ENST00000353275,;WHSC1,downstream_gene_variant,,ENST00000511904,;WHSC1,upstream_gene_variant,,ENST00000507094,;	A	ENST00000382895	Transcript	synonymous_variant	2543/7827	2112/4098	704/1365	R	agG/agA		1		1	WHSC1	HGNC	HGNC:12766	protein_coding	YES	CCDS33940.1	ENSP00000372351	O96028		UPI0000073F57	NM_133330.2			13/24		PROSITE_profiles:PS50016,hmmpanther:PTHR22884:SF293,hmmpanther:PTHR22884,PROSITE_patterns:PS01359,Gene3D:3.30.40.10,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	108	1952206	1952206	G	A	1	0	0	0	0	0	0	0	1	17920	1252	44	3		3	WHSC1	4	1952206	Silent	SNP	G	C3N-02729_TP		1952206	188262349	6	32006											
ADD1	0	.	GRCh38	chr4	2884661	2884661	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagcttatctacaatcatAtcacagtgagtattaaatgg	14	13	6	8	0	4	1	3	1	1	0	4	1	4	1	0	1	2	2	0	1	7	5	novel		C3N-02729_TP	C3N-02729_NB	A	A																c.505A>T	p.Ile169Phe	p.I169F	ENST00000264758	4/15	35	18	17	67	67	0	strelka-mutect	ADD1,missense_variant,p.Ile169Phe,ENST00000355842,NM_001286645.1;ADD1,missense_variant,p.Ile169Phe,ENST00000398125,NM_176801.2;ADD1,missense_variant,p.Ile169Phe,ENST00000264758,NM_014189.3;ADD1,missense_variant,p.Ile169Phe,ENST00000398129,NM_001119.4;ADD1,missense_variant,p.Ile169Phe,ENST00000446856,;ADD1,missense_variant,p.Ile169Phe,ENST00000503455,;ADD1,missense_variant,p.Ile169Phe,ENST00000513328,NM_014190.3;ADD1,missense_variant,p.Ile169Phe,ENST00000398123,;ADD1,intron_variant,,ENST00000508277,;ADD1,downstream_gene_variant,,ENST00000511797,;ADD1,3_prime_UTR_variant,,ENST00000510101,;ADD1,non_coding_transcript_exon_variant,,ENST00000508684,;ADD1,non_coding_transcript_exon_variant,,ENST00000503169,;ADD1,non_coding_transcript_exon_variant,,ENST00000509039,;ADD1,non_coding_transcript_exon_variant,,ENST00000534870,;ADD1,upstream_gene_variant,,ENST00000506157,;	T	ENST00000264758	Transcript	missense_variant	693/4045	505/2307	169/768	I/F	Atc/Ttc		1		1	ADD1	HGNC	HGNC:243	protein_coding	YES	CCDS3363.1	ENSP00000264758	P35611		UPI000002A35E	NM_014189.3	deleterious(0.01)		4/15		hmmpanther:PTHR10672:SF4,hmmpanther:PTHR10672,Pfam_domain:PF00596,Gene3D:3.40.225.10,SMART_domains:SM01007,Superfamily_domains:SSF53639																	MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	108	2884661	2884661	A	T	1	0	0	0	0	1	0	0	0	348	463	16	4		4	ADD1	4	2884661	Missense_Mutation	SNP	A	C3N-02729_TP	932455	2884661	187329894	7	32007											
JAKMIP1	0	.	GRCh38	chr4	6050663	6050663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggaggttaaatgctggcGacctcctctctctctcctgg	5	14	10	12	1	2	0	0	0	2	0	6	2	4	1	3	4	1	2	3	4	2	2	novel		C3N-02729_TP	C3N-02729_NB	G	G																c.1823C>T	p.Ser608Leu	p.S608L	ENST00000409021	14/21	194	156	38	260	260	0	strelka-varscan-mutect	JAKMIP1,missense_variant,p.Ser608Leu,ENST00000409021,NM_001099433.1;JAKMIP1,missense_variant,p.Ser423Leu,ENST00000409371,;JAKMIP1,missense_variant,p.Ser176Leu,ENST00000637373,;JAKMIP1,downstream_gene_variant,,ENST00000282924,NM_144720.3;JAKMIP1,downstream_gene_variant,,ENST00000409831,NM_001306133.1;JAKMIP1,downstream_gene_variant,,ENST00000410077,NM_001306134.1;JAKMIP1,downstream_gene_variant,,ENST00000473053,;	A	ENST00000409021	Transcript	missense_variant	2273/2975	1823/2496	608/831	S/L	tCg/tTg		1		-1	JAKMIP1	HGNC	HGNC:26460	protein_coding	YES	CCDS47005.1	ENSP00000386711	Q96N16		UPI00015734C1	NM_001099433.1	deleterious(0.03)		14/21		hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF6,Pfam_domain:PF16034																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	108	6050663	6050663	G	A	1	0	0	0	0	1	0	0	0	7853	1059	37	1		1	JAKMIP1	4	6050663	Missense_Mutation	SNP	G	C3N-02729_TP	3166002	6050663	184163892	8	32008											
TAPT1	0	.	GRCh38	chr4	16188239	16188239	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagacatagagaacagccatGaaaaagtgaggaatcacccc	18	4	9	10	0	1	4	1	2	0	2	1	6	1	5	3	1	2	0	3	1	5	1	novel		C3N-02729_TP	C3N-02729_NB	G	G																c.729C>T	p.=	p.F243F	ENST00000405303	5/14	57	45	12	169	169	0	strelka-varscan	TAPT1,synonymous_variant,p.=,ENST00000405303,NM_153365.2;TAPT1,non_coding_transcript_exon_variant,,ENST00000508888,;TAPT1,non_coding_transcript_exon_variant,,ENST00000513359,;TAPT1,non_coding_transcript_exon_variant,,ENST00000505152,;TAPT1,non_coding_transcript_exon_variant,,ENST00000510868,;TAPT1,non_coding_transcript_exon_variant,,ENST00000511866,;TAPT1,3_prime_UTR_variant,,ENST00000505603,;TAPT1,non_coding_transcript_exon_variant,,ENST00000507425,;TAPT1,intron_variant,,ENST00000513782,;TAPT1,downstream_gene_variant,,ENST00000505317,;TAPT1,upstream_gene_variant,,ENST00000504281,;TAPT1,downstream_gene_variant,,ENST00000513833,;	A	ENST00000405303	Transcript	synonymous_variant	813/4591	729/1704	243/567	F	ttC/ttT		1		-1	TAPT1	HGNC	HGNC:26887	protein_coding	YES	CCDS47030.1	ENSP00000385347	Q6NXT6		UPI0000253B29	NM_153365.2			5/14		Transmembrane_helices:TMhelix,hmmpanther:PTHR13317,hmmpanther:PTHR13317:SF4,Pfam_domain:PF05346																	LOW	1	SNV	1			1										PASS		.	.												A	2	1	108	16188239	16188239	G	A	1	0	0	0	0	0	0	0	1	15953	1281	45	3		3	TAPT1	4	16188239	Silent	SNP	G	C3N-02729_TP	10137576	16188239	174026316	9	32009											
ATP10D	0	.	GRCh38	chr4	47512764	47512764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggagcctatgtgaacaatcGaatacgaacaacaaagtaca	18	6	8	9	3	0	1	0	1	0	0	1	4	0	2	1	1	6	1	1	1	9	3	rs750138858		C3N-02729_TP	C3N-02729_NB	G	G																c.224G>A	p.Arg75Gln	p.R75Q	ENST00000273859	2/23	123	98	25	154	154	0	strelka-varscan	ATP10D,missense_variant,p.Arg75Gln,ENST00000273859,NM_020453.3;ATP10D,missense_variant,p.Arg75Gln,ENST00000504445,;ATP10D,non_coding_transcript_exon_variant,,ENST00000507889,;	A	ENST00000273859	Transcript	missense_variant	493/6655	224/4281	75/1426	R/Q	cGa/cAa	rs750138858,COSM256370	1		1	ATP10D	HGNC	HGNC:13549	protein_coding	YES	CCDS3476.1	ENSP00000273859	Q9P241		UPI00001AE9B7	NM_020453.3	tolerated(0.12)		2/23		Superfamily_domains:0049473,Pfam_domain:PF16209,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF84,TIGRFAM_domain:TIGR01652											0,1						MODERATE	1	SNV	1		0,1	1										PASS		.	.												A	3	1	108	47512764	47512764	G	A	1	0	0	0	0	1	0	0	0	1270	1058	37	1		1	ATP10D	4	47512764	Missense_Mutation	SNP	G	C3N-02729_TP	31324525	47512764	142701791	10	32010											
MRPL1	0	.	GRCh38	chr4	77885259	77885259	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttgtcatgtgtttagaaaAacgtggagccatttaccagt	11	13	9	8	1	1	1	1	0	0	1	1	2	1	2	3	1	3	1	3	1	4	5	novel		C3N-02729_TP	C3N-02729_NB	A	A																c.406A>T	p.Asn136Tyr	p.N136Y	ENST00000315567	4/9	138	91	47	269	269	0	strelka-varscan	MRPL1,missense_variant,p.Asn136Tyr,ENST00000315567,NM_020236.3;MRPL1,missense_variant,p.Asn90Tyr,ENST00000502384,;MRPL1,non_coding_transcript_exon_variant,,ENST00000506674,;MRPL1,non_coding_transcript_exon_variant,,ENST00000511521,;MRPL1,downstream_gene_variant,,ENST00000515625,;	T	ENST00000315567	Transcript	missense_variant	735/1490	406/978	136/325	N/Y	Aac/Tac		1		1	MRPL1	HGNC	HGNC:14275	protein_coding	YES	CCDS3583.2	ENSP00000315017	Q9BYD6		UPI000020B07E	NM_020236.3	deleterious(0)		4/9		hmmpanther:PTHR23105:SF5,hmmpanther:PTHR23105,Pfam_domain:PF00687,TIGRFAM_domain:TIGR01170,Gene3D:3.30.190.20,Superfamily_domains:SSF56808																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	108	77885259	77885259	A	T	1	0	0	0	0	1	0	0	0	9749	28	1	4		4	MRPL1	4	77885259	Missense_Mutation	SNP	A	C3N-02729_TP	30372495	77885259	112329296	11	32011											
MAST4	0	.	GRCh38	chr5	67166235	67166235	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaacagacagacaacagAcagacagacaaaagcccgag	20	1	9	11	1	0	5	0	0	0	5	0	6	0	5	1	0	4	1	1	0	4	0	novel		C3N-02729_TP	C3N-02729_NB	A	A																c.7056A>T	p.Arg2352Ser	p.R2352S	ENST00000403625	29/29	193	132	61	331	331	0	strelka-varscan-mutect	MAST4,missense_variant,p.Arg2352Ser,ENST00000403625,NM_001164664.1;MAST4,missense_variant,p.Arg2173Ser,ENST00000405643,NM_001290226.1;MAST4,missense_variant,p.Arg2158Ser,ENST00000261569,NM_001290227.1,NM_001297651.1;MAST4,missense_variant,p.Arg2163Ser,ENST00000403666,NM_015183.2;MAST4,missense_variant,p.Arg1409Ser,ENST00000443808,;	T	ENST00000403625	Transcript	missense_variant	7351/10711	7056/7872	2352/2623	R/S	agA/agT		1		1	MAST4	HGNC	HGNC:19037	protein_coding	YES	CCDS54861.1	ENSP00000385727		J3QT34	UPI000173A2B0	NM_001164664.1	deleterious_low_confidence(0.04)		29/29																			MODERATE	1	SNV	5			1										PASS		.	.												T	3	4	108	67166235	67166235	A	T	1	0	0	0	0	1	0	0	0	9253	272	10	4		4	MAST4	5	67166235	Missense_Mutation	SNP	A	C3N-02729_TP		67166235	114372024	12	32012											
PCDHA3	0	.	GRCh38	chr5	140802047	140802047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgcgtattctttcaatacgGacatgtcagcagatattctg	10	14	8	9	3	4	1	2	0	2	1	5	2	4	2	0	1	2	2	0	1	4	6	novel		C3N-02729_TP	C3N-02729_NB	G	G																c.850G>A	p.Asp284Asn	p.D284N	ENST00000522353	1/4	174	111	63	393	393	0	strelka-varscan-mutect	PCDHA3,missense_variant,p.Asp284Asn,ENST00000522353,NM_018906.2;PCDHA3,missense_variant,p.Asp284Asn,ENST00000532566,NM_031497.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2;PCDHA2,intron_variant,,ENST00000520672,NM_031496.1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2;PCDHA4,upstream_gene_variant,,ENST00000618834,NM_031500.2;PCDHA2,downstream_gene_variant,,ENST00000378132,NM_031495.1;PCDHA4,upstream_gene_variant,,ENST00000378125,;AC005609.16,intron_variant,,ENST00000624712,;AC005609.16,upstream_gene_variant,,ENST00000624176,;	A	ENST00000522353	Transcript	missense_variant	850/5260	850/2853	284/950	D/N	Gac/Aac		1		1	PCDHA3	HGNC	HGNC:8669	protein_coding	YES	CCDS54915.1	ENSP00000429808	Q9Y5H8		UPI00001273CB	NM_018906.2	tolerated_low_confidence(0.35)		1/4		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1										PASS		rs1361472766	.												A	3	1	108	140802047	140802047	G	A	1	0	0	0	0	1	0	0	0	11612	1174	41	3		3	PCDHA3	5	140802047	Missense_Mutation	SNP	G	C3N-02729_TP	73635812	140802047	40736212	13	32013											
ADAM19	0	.	GRCh38	chr5	157570965	157570965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgctgcagcttggggctgCcttcctcacttcctcctgcc	3	12	9	17	0	1	0	1	0	0	0	4	0	4	0	5	2	5	4	5	2	0	3	novel		C3N-02729_TP	C3N-02729_NB	C	C																c.110G>T	p.Gly37Val	p.G37V	ENST00000257527	2/23	156	92	64	221	221	0	strelka-varscan-mutect	ADAM19,missense_variant,p.Gly37Val,ENST00000257527,NM_033274.4;ADAM19,missense_variant,p.Gly37Val,ENST00000517905,;AC106801.1,downstream_gene_variant,,ENST00000518054,;ADAM19,missense_variant,p.Gly37Val,ENST00000517951,;ADAM19,non_coding_transcript_exon_variant,,ENST00000519752,;	A	ENST00000257527	Transcript	missense_variant	189/6481	110/2757	37/918	G/V	gGc/gTc		1		-1	ADAM19	HGNC	HGNC:197	protein_coding	YES	CCDS4338.1	ENSP00000257527	Q9H013		UPI000013CF6A	NM_033274.4	tolerated(0.14)		2/23		hmmpanther:PTHR11905:SF19,hmmpanther:PTHR11905																	MODERATE	1	SNV	1			1										PASS		rs1327017962	.												A	3	1	108	157570965	157570965	C	A	1	0	0	0	0	1	0	0	0	284	739	26	2		2	ADAM19	5	157570965	Missense_Mutation	SNP	C	C3N-02729_TP	16768918	157570965	23967294	14	32014											
DNAH11	0	.	GRCh38	chr7	21717878	21717878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgcttggataaactgagaAcaagctttaaaaccatcact	16	10	6	9	0	1	1	1	1	0	1	1	3	1	2	1	1	5	2	1	1	6	4	novel		C3N-02729_TP	C3N-02729_NB	A	A																c.7087A>G	p.Thr2363Ala	p.T2363A	ENST00000409508	43/82	89	59	30	149	149	0	strelka-varscan	DNAH11,missense_variant,p.Thr2363Ala,ENST00000409508,NM_001277115.1;DNAH11,missense_variant,p.Thr2370Ala,ENST00000328843,;DNAH11,missense_variant,p.Thr2370Ala,ENST00000620169,;	G	ENST00000409508	Transcript	missense_variant	7118/14167	7087/13551	2363/4516	T/A	Aca/Gca		1		1	DNAH11	HGNC	HGNC:2942	protein_coding	YES	CCDS64602.1	ENSP00000475939	Q96DT5		UPI0002B8CE70	NM_001277115.1	tolerated(0.18)		43/82		hmmpanther:PTHR10676:SF263,hmmpanther:PTHR10676																	MODERATE	1	SNV	5			1										PASS		.	.												G	3	3	108	21717878	21717878	A	G	1	0	0	0	0	1	0	0	0	4413	43	2	5		5	DNAH11	7	21717878	Missense_Mutation	SNP	A	C3N-02729_TP		21717878	137628095	15	32015											
EGFR	0	.	GRCh38	chr7	55191822	55191822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcacagattttgggcTggccaaactgctgggtgcgg	9	9	14	9	1	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	2	2	rs121434568		C3N-02729_TP	C3N-02729_NB	T	T																c.2573T>G	p.Leu858Arg	p.L858R	ENST00000275493	21/28	627	434	193	530	529	1	strelka-varscan-mutect	EGFR,missense_variant,p.Leu858Arg,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Leu813Arg,ENST00000454757,;EGFR,missense_variant,p.Leu813Arg,ENST00000455089,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;	G	ENST00000275493	Transcript	missense_variant	2750/9821	2573/3633	858/1210	L/R	cTg/cGg	rs121434568,COSM29578,COSM6224	1		1	EGFR	HGNC	HGNC:3236	protein_coding	YES	CCDS5514.1	ENSP00000275493	P00533		UPI000003E750	NM_005228.3	deleterious(0)		21/28		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF91,PIRSF_domain:PIRSF000619,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112										drug_response	0,1,1	26053404					MODERATE	1	SNV	1		1,1,1	1										PASS		rs121434568	.												G	3	3	108	55191822	55191822	T	G	1	0	0	0	0	1	0	0	0	4803	1580	55	5		5	EGFR	7	55191822	Missense_Mutation	SNP	T	C3N-02729_TP	33473944	55191822	104154151	16	32016											
PEG10	0	.	GRCh38	chr7	94664017	94664017	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctttcatgatggaaaTgaagcatgtctttgaagacc	12	11	9	9	0	2	4	1	3	1	1	2	5	2	5	2	1	2	2	2	1	3	2	novel		C3N-02729_TP	C3N-02729_NB	T	T																c.689T>A	p.Met230Lys	p.M230K	ENST00000488574	2/2	397	252	145	367	367	0	strelka-varscan	PEG10,missense_variant,p.Met154Lys,ENST00000482108,NM_015068.3,NM_001184961.1,NM_001172437.2,NM_001040152.1;PEG10,missense_variant,p.Met188Lys,ENST00000615790,NM_001184962.1;PEG10,missense_variant,p.Met188Lys,ENST00000612941,;PEG10,missense_variant,p.Met154Lys,ENST00000617526,;PEG10,missense_variant,p.Met230Lys,ENST00000488574,NM_001172438.2;PEG10,missense_variant,p.Met230Lys,ENST00000612748,;PEG10,downstream_gene_variant,,ENST00000613043,;PEG10,intron_variant,,ENST00000493935,;PEG10,upstream_gene_variant,,ENST00000465184,;	A	ENST00000488574	Transcript	missense_variant	906/2587	689/1206	230/401	M/K	aTg/aAg		1		1	PEG10	HGNC	HGNC:14005	protein_coding	YES	CCDS75636.1	ENSP00000418944		B4DSP0	UPI0000037665	NM_001172438.2	deleterious(0)		2/2		hmmpanther:PTHR15503:SF10,hmmpanther:PTHR15503,Pfam_domain:PF16297																	MODERATE	1	SNV	2			1										PASS		.	.												A	3	1	108	94664017	94664017	T	A	1	0	0	0	0	1	0	0	0	11807	1464	51	4		4	PEG10	7	94664017	Missense_Mutation	SNP	T	C3N-02729_TP	39472195	94664017	64681956	17	32017											
ANK1	0	.	GRCh38	chr8	41715678	41715678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catgcaggcctgggatgcttCcttttccagaagggccagga	8	9	13	11	0	0	1	0	0	0	1	2	3	2	3	4	4	2	2	4	4	1	3	novel		C3N-02729_TP	C3N-02729_NB	C	C																c.1675G>A	p.Glu559Lys	p.E559K	ENST00000265709	14/43	237	167	70	402	402	0	strelka-varscan-mutect	ANK1,missense_variant,p.Glu526Lys,ENST00000289734,NM_000037.3;ANK1,missense_variant,p.Glu526Lys,ENST00000347528,NM_020476.2,NM_020475.2,NM_020477.2;ANK1,missense_variant,p.Glu559Lys,ENST00000265709,NM_001142446.1;	T	ENST00000265709	Transcript	missense_variant	1957/6379	1675/5694	559/1897	E/K	Gaa/Aaa		1		-1	ANK1	HGNC	HGNC:492	protein_coding	YES	CCDS47849.1	ENSP00000265709	P16157		UPI0000E4453A	NM_001142446.1	tolerated(0.08)		14/43		Gene3D:1.25.40.20,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF20,SMART_domains:SM00248,Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	108	41715678	41715678	C	T	1	0	0	0	0	1	0	0	0	720	864	30	3		3	ANK1	8	41715678	Missense_Mutation	SNP	C	C3N-02729_TP		41715678	103422958	18	32018											
ZFHX4	0	.	GRCh38	chr8	76851428	76851428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggaaagcaagtcctgtaGgaagtgatagtagctctatt	14	10	12	5	0	1	1	0	1	1	0	2	3	2	3	1	2	2	4	1	2	8	5	novel		C3N-02729_TP	C3N-02729_NB	G	G																c.4507G>A	p.Gly1503Arg	p.G1503R	ENST00000521891	10/11	201	126	75	224	224	0	strelka-varscan-mutect	ZFHX4,missense_variant,p.Gly1503Arg,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Gly1477Arg,ENST00000518282,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;	A	ENST00000521891	Transcript	missense_variant	4955/14019	4507/10851	1503/3616	G/R	Gga/Aga		1		1	ZFHX4	HGNC	HGNC:30939	protein_coding	YES	CCDS47878.2	ENSP00000430497	Q86UP3		UPI0000424CC7	NM_024721.4	deleterious(0.01)		10/11		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40																	MODERATE	1	SNV	5			1										PASS		.	.												A	3	1	108	76851428	76851428	G	A	1	0	0	0	0	1	0	0	0	18213	1001	35	3		3	ZFHX4	8	76851428	Missense_Mutation	SNP	G	C3N-02729_TP	35135750	76851428	68287208	19	32019											
UAP1L1	0	.	GRCh38	chr9	137080748	137080748	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccactgaagaacgcagAgccagccgacagggacagtc	12	4	11	14	2	0	3	0	1	0	2	2	5	1	4	4	1	3	1	4	1	2	1	novel		C3N-02729_TP	C3N-02729_NB	A	A																c.1238A>C	p.Glu413Ala	p.E413A	ENST00000409858	7/9	176	119	57	154	154	0	strelka-varscan-mutect	UAP1L1,missense_variant,p.Glu413Ala,ENST00000409858,NM_207309.2;UAP1L1,missense_variant,p.Glu290Ala,ENST00000360271,;MAN1B1-AS1,downstream_gene_variant,,ENST00000596585,;UAP1L1,non_coding_transcript_exon_variant,,ENST00000474787,;UAP1L1,downstream_gene_variant,,ENST00000476184,;	C	ENST00000409858	Transcript	missense_variant	1270/3365	1238/1524	413/507	E/A	gAg/gCg		1		1	UAP1L1	HGNC	HGNC:28082	protein_coding	YES	CCDS7028.2	ENSP00000386935	Q3KQV9		UPI000016047B	NM_207309.2	deleterious(0.05)		7/9		Gene3D:3.90.550.10,Pfam_domain:PF01704,hmmpanther:PTHR11952,hmmpanther:PTHR11952:SF6,Superfamily_domains:SSF53448																	MODERATE	1	SNV	1			1										PASS		.	.												C	3	2	108	137080748	137080748	A	C	1	0	0	0	0	1	0	0	0	17345	304	11	5		5	UAP1L1	9	137080748	Missense_Mutation	SNP	A	C3N-02729_TP		137080748	1313969	20	32020											
TACC2	0	.	GRCh38	chr10	122083805	122083805	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagattcctattgctgtagaAgaacctggatcatcatccag	12	11	8	10	0	2	3	2	0	0	3	4	4	4	4	3	1	2	2	3	1	4	4	novel		C3N-02729_TP	C3N-02729_NB	A	A																c.1305A>T	p.Glu435Asp	p.E435D	ENST00000369005	4/23	139	69	70	194	194	0	strelka-varscan-mutect	TACC2,missense_variant,p.Glu435Asp,ENST00000369005,NM_206862.3;TACC2,missense_variant,p.Glu435Asp,ENST00000334433,;TACC2,missense_variant,p.Glu435Asp,ENST00000515273,NM_001291877.1;TACC2,missense_variant,p.Glu435Asp,ENST00000453444,;TACC2,missense_variant,p.Glu435Asp,ENST00000515603,NM_001291876.1;TACC2,intron_variant,,ENST00000513429,NM_206861.2;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;TACC2,downstream_gene_variant,,ENST00000498721,;	T	ENST00000369005	Transcript	missense_variant	1645/9673	1305/8847	435/2948	E/D	gaA/gaT		1		1	TACC2	HGNC	HGNC:11523	protein_coding	YES	CCDS7626.1	ENSP00000358001	O95359		UPI0000246F6B	NM_206862.3	deleterious_low_confidence(0)		4/23		hmmpanther:PTHR13924:SF11,hmmpanther:PTHR13924																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	108	122083805	122083805	A	T	1	0	0	0	0	1	0	0	0	15898	69	3	4		4	TACC2	10	122083805	Missense_Mutation	SNP	A	C3N-02729_TP		122083805	11713617	21	32021											
PIK3C2A	0	.	GRCh38	chr11	17097066	17097066	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaaacttacataatgtttAtctgggttgtatttcttatg	11	19	6	5	0	3	0	1	0	2	0	3	0	3	0	0	1	2	3	0	1	6	8	novel		C3N-02729_TP	C3N-02729_NB	A	A																c.4317T>A	p.Asp1439Glu	p.D1439E	ENST00000265970	26/32	78	72	6	180	180	0	varscan-mutect	PIK3C2A,missense_variant,p.Asp1439Glu,ENST00000265970,NM_001321378.1,NM_002645.2;PIK3C2A,non_coding_transcript_exon_variant,,ENST00000531428,;	T	ENST00000265970	Transcript	missense_variant	4317/8227	4317/5061	1439/1686	D/E	gaT/gaA		1		-1	PIK3C2A	HGNC	HGNC:8971	protein_coding	YES	CCDS7824.1	ENSP00000265970	O00443	L7RRS0	UPI000013D6B3	NM_001321378.1,NM_002645.2	tolerated(0.72)		26/32		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,SMART_domains:SM00312,Superfamily_domains:SSF64268																	MODERATE	1	SNV	1			1										PASS		rs1170067624	.												T	3	4	108	17097066	17097066	A	T	1	0	0	0	0	1	0	0	0	12004	446	16	4		4	PIK3C2A	11	17097066	Missense_Mutation	SNP	A	C3N-02729_TP		17097066	117989556	22	32022											
DCDC1	0	.	GRCh38	chr11	30908976	30908976	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttttcttctttaatcacAgatgatgtacagacaccagc	12	14	6	9	0	3	3	1	1	2	2	3	3	3	3	1	0	2	2	1	0	2	6	novel		C3N-02729_TP	C3N-02729_NB	A	A																c.1209T>A	p.=	p.S403S	ENST00000406071	10/20	61	42	19	168	168	0	strelka-varscan-mutect	DCDC1,synonymous_variant,p.=,ENST00000597505,;DCDC1,synonymous_variant,p.=,ENST00000406071,NM_020869.3;DCDC1,synonymous_variant,p.=,ENST00000444572,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;DCDC1,non_coding_transcript_exon_variant,,ENST00000429306,;DCDC1,upstream_gene_variant,,ENST00000303697,;	T	ENST00000406071	Transcript	synonymous_variant	1525/4758	1209/2673	403/890	S	tcT/tcA		1		-1	DCDC1	HGNC	HGNC:20625	protein_coding	YES	CCDS73270.1	ENSP00000385936		B6ZDN3	UPI0001FB41A5	NM_020869.3			10/20		hmmpanther:PTHR14958:SF27,hmmpanther:PTHR14958																	LOW	1	SNV	5			1										PASS		.	.												T	2	4	108	30908976	30908976	A	T	1	0	0	0	0	0	0	0	1	4086	175	7	4		4	DCDC1	11	30908976	Silent	SNP	A	C3N-02729_TP	13811910	30908976	104177646	23	32023											
SORL1	0	.	GRCh38	chr11	121496867	121496867	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttttttttttttctgccAggggaattgatccctatgac	6	19	7	9	0	1	2	0	2	1	0	2	3	2	3	3	2	1	0	3	2	2	8	novel		C3N-02729_TP	C3N-02729_NB	A	A																c.759-2A>T		p.X253_splice	ENST00000260197		68	56	12	101	101	0	strelka-varscan-mutect	SORL1,splice_acceptor_variant,,ENST00000260197,NM_003105.5;SORL1,splice_acceptor_variant,,ENST00000532451,;	T	ENST00000260197	Transcript	splice_acceptor_variant	-/10904	759/6645	253/2214				1		1	SORL1	HGNC	HGNC:11185	protein_coding	YES	CCDS8436.1	ENSP00000260197	Q92673		UPI000013D0B1	NM_003105.5				5/47																		HIGH	1	SNV	1			1										PASS		rs1297618376	.												T	5	4	108	121496867	121496867	A	T	1	0	0	0	0	0	0	1	0	15256	202	7	4		4	SORL1	11	121496867	Splice_Site	SNP	A	C3N-02729_TP	90587891	121496867	13589755	24	32024											
ARHGAP5	0	.	GRCh38	chr14	32152521	32152521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagatacgtgataacacatCtaaacaggtatttttatttt	14	16	5	6	1	2	2	1	1	1	1	2	2	2	2	0	1	3	1	0	1	6	9	novel		C3N-02729_TP	C3N-02729_NB	C	C																c.4174C>T	p.=	p.L1392L	ENST00000345122	6/7	70	66	4	165	164	1	varscan-mutect	ARHGAP5,synonymous_variant,p.=,ENST00000345122,NM_001030055.1;ARHGAP5,synonymous_variant,p.=,ENST00000396582,;ARHGAP5,synonymous_variant,p.=,ENST00000432921,;ARHGAP5,synonymous_variant,p.=,ENST00000539826,;ARHGAP5,synonymous_variant,p.=,ENST00000556611,NM_001173.2;ARHGAP5,synonymous_variant,p.=,ENST00000433497,;ARHGAP5,synonymous_variant,p.=,ENST00000554090,;ARHGAP5,3_prime_UTR_variant,,ENST00000557643,;ARHGAP5,upstream_gene_variant,,ENST00000216743,;	T	ENST00000345122	Transcript	synonymous_variant	4489/9604	4174/4509	1392/1502	L	Cta/Tta		1		1	ARHGAP5	HGNC	HGNC:675	protein_coding	YES	CCDS32062.1	ENSP00000371897	Q13017		UPI000057B85C	NM_001030055.1			6/7		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4,SMART_domains:SM00324,Superfamily_domains:SSF48350																	LOW	1	SNV	5			1										PASS		rs1374270897	.												T	2	4	108	32152521	32152521	C	T	1	0	0	0	0	0	0	0	1	1016	912	32	3		3	ARHGAP5	14	32152521	Silent	SNP	C	C3N-02729_TP		32152521	74891197	25	32025											
LRFN5	0	.	GRCh38	chr14	41891763	41891763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgctttgcctccttcctgGacttcaagcacttctgtgtc	4	16	7	14	0	3	0	1	0	2	0	6	1	5	1	3	1	3	2	3	1	1	4	novel		C3N-02729_TP	C3N-02729_NB	G	G																c.1899G>T	p.Trp633Cys	p.W633C	ENST00000298119	4/6	406	268	138	583	583	0	strelka-varscan-mutect	LRFN5,missense_variant,p.Trp633Cys,ENST00000298119,NM_152447.3;LRFN5,intron_variant,,ENST00000554171,;LRFN5,intron_variant,,ENST00000554120,;	T	ENST00000298119	Transcript	missense_variant	3088/3723	1899/2160	633/719	W/C	tgG/tgT		1		1	LRFN5	HGNC	HGNC:20360	protein_coding	YES	CCDS9678.1	ENSP00000298119	Q96NI6		UPI000000DA1E	NM_152447.3	tolerated_low_confidence(0.09)		4/6		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	108	41891763	41891763	G	T	1	0	0	0	0	1	0	0	0	8835	1183	41	2		2	LRFN5	14	41891763	Missense_Mutation	SNP	G	C3N-02729_TP	9739242	41891763	65151955	26	32026											
PSMC6	0	.	GRCh38	chr14	52708483	52708483	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttattttcttccttagAtcgtgggtgaagtgcttaaa	8	19	8	6	1	1	2	0	1	1	1	3	2	2	2	1	1	1	1	1	1	5	8	novel		C3N-02729_TP	C3N-02729_NB	A	A																c.208A>T	p.Ile70Phe	p.I70F	ENST00000445930	3/14	111	74	37	263	263	0	strelka-varscan-mutect	PSMC6,missense_variant,p.Ile70Phe,ENST00000445930,;PSMC6,missense_variant,p.Ile70Phe,ENST00000612399,NM_002806.3;PSMC6,missense_variant,p.Ile56Phe,ENST00000606149,;PSMC6,missense_variant,p.Ile56Phe,ENST00000556813,;PSMC6,intron_variant,,ENST00000555339,;PSMC6,splice_region_variant,,ENST00000554952,;PSMC6,missense_variant,p.Ile56Phe,ENST00000554044,;PSMC6,missense_variant,p.Ile56Phe,ENST00000557240,;PSMC6,splice_region_variant,,ENST00000458604,;PSMC6,splice_region_variant,,ENST00000553899,;PSMC6,splice_region_variant,,ENST00000557517,;PSMC6,splice_region_variant,,ENST00000555887,;PSMC6,splice_region_variant,,ENST00000553798,;PSMC6,splice_region_variant,,ENST00000554956,;PSMC6,upstream_gene_variant,,ENST00000557085,;	T	ENST00000445930	Transcript	missense_variant,splice_region_variant	214/2188	208/1212	70/403	I/F	Atc/Ttc		1		1	PSMC6	HGNC	HGNC:9553	protein_coding	YES	CCDS9710.2	ENSP00000401802		A0A087X2I1	UPI00001FD556		tolerated(0.08)		3/14		hmmpanther:PTHR23073:SF33,hmmpanther:PTHR23073,TIGRFAM_domain:TIGR01242																	MODERATE	1	SNV	1			1										PASS		.	.												T	3	4	108	52708483	52708483	A	T	1	0	0	0	0	1	0	0	0	12842	347	12	4		4	PSMC6	14	52708483	Missense_Mutation	SNP	A	C3N-02729_TP	10816720	52708483	54335235	27	32027											
HERC2	0	.	GRCh38	chr15	28146264	28146264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggagacgatcctgttgaCgccgtccatgactgtgagag	9	8	13	11	4	0	4	0	3	0	2	2	7	2	4	3	1	0	1	3	1	0	1	rs368367299		C3N-02729_TP	C3N-02729_NB	C	C																c.10981G>A	p.Val3661Ile	p.V3661I	ENST00000261609	71/93	199	186	13	245	245	0	strelka-varscan-mutect	HERC2,missense_variant,p.Val3661Ile,ENST00000261609,NM_004667.5;HERC2,upstream_gene_variant,,ENST00000564519,;	T	ENST00000261609	Transcript	missense_variant	11090/15337	10981/14505	3661/4834	V/I	Gtc/Atc	rs368367299	1		-1	HERC2	HGNC	HGNC:4868	protein_coding	YES	CCDS10021.1	ENSP00000261609	O95714		UPI00004578F7	NM_004667.5	tolerated(0.06)		71/93																			MODERATE	1	SNV	1			1										PASS		rs368367299	.												T	3	4	108	28146264	28146264	C	T	1	0	0	0	0	1	0	0	0	6942	536	19	1		1	HERC2	15	28146264	Missense_Mutation	SNP	C	C3N-02729_TP		28146264	73844925	28	32028											
PITPNM3	0	.	GRCh38	chr17	6478060	6478060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtagcagatggcatcgaagGccaggaggccccccacacag	11	4	13	13	1	0	1	0	0	0	1	1	3	0	2	4	4	1	3	4	4	2	1	novel		C3N-02729_TP	C3N-02729_NB	G	G																c.815C>T	p.Ala272Val	p.A272V	ENST00000262483	8/20	246	121	125	302	302	0	strelka-varscan-mutect	PITPNM3,missense_variant,p.Ala272Val,ENST00000262483,NM_031220.3;PITPNM3,missense_variant,p.Ala236Val,ENST00000421306,NM_001165966.1;PITPNM3,upstream_gene_variant,,ENST00000576664,;PITPNM3,non_coding_transcript_exon_variant,,ENST00000572795,;	A	ENST00000262483	Transcript	missense_variant	903/7086	815/2925	272/974	A/V	gCc/gTc		1		-1	PITPNM3	HGNC	HGNC:21043	protein_coding	YES	CCDS11076.1	ENSP00000262483	Q9BZ71		UPI000022A281	NM_031220.3	deleterious(0.04)		8/20		hmmpanther:PTHR10658																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	108	6478060	6478060	G	A	1	0	0	0	0	1	0	0	0	12048	1203	42	3		3	PITPNM3	17	6478060	Missense_Mutation	SNP	G	C3N-02729_TP		6478060	76779381	29	32029											
ACLY	0	.	GRCh38	chr17	41892282	41892282	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagcccagtgatctacctgGgcatagttcatggtctccat	9	11	10	11	0	3	2	1	1	2	1	4	2	3	2	3	2	2	2	3	2	2	3	novel		C3N-02729_TP	C3N-02729_NB	G	G																c.1767C>G	p.=	p.A589A	ENST00000352035	16/29	60	55	5	81	81	0	varscan-mutect	ACLY,synonymous_variant,p.=,ENST00000352035,NM_001303274.1,NM_001096.2;ACLY,synonymous_variant,p.=,ENST00000353196,NM_001303275.1,NM_198830.1;ACLY,synonymous_variant,p.=,ENST00000590151,;ACLY,synonymous_variant,p.=,ENST00000393896,;ACLY,synonymous_variant,p.=,ENST00000537919,;	C	ENST00000352035	Transcript	synonymous_variant	1898/4339	1767/3306	589/1101	A	gcC/gcG		1		-1	ACLY	HGNC	HGNC:115	protein_coding	YES	CCDS11412.1	ENSP00000253792	P53396	A0A024R1T9	UPI000013CDF3	NM_001303274.1,NM_001096.2			16/29		Gene3D:3.40.50.720,Pfam_domain:PF02629,PIRSF_domain:PIRSF036511,hmmpanther:PTHR23118,SMART_domains:SM00881,Superfamily_domains:SSF51735																	LOW	1	SNV	1			1										PASS		rs1394374726	.												C	2	2	108	41892282	41892282	G	C	1	0	0	0	0	0	0	0	1	185	1246	43	4		4	ACLY	17	41892282	Silent	SNP	G	C3N-02729_TP	35414222	41892282	41365159	30	32030											
H3F3B	0	.	GRCh38	chr17	75779122	75779123	+	Frame_Shift_Ins	INS	-	-	G																															tttcgtggccagctgtttgcINSggggggctttcccaccggtg																								rs779064600		C3N-02729_TP	C3N-02729_NB	-	-																c.52dupC	p.Arg18ProfsTer80	p.R18Pfs*80	ENST00000254810	2/4	92	75	17	73	73	0	sindel-varindel-pindel	H3F3B,frameshift_variant,p.Arg18ProfsTer80,ENST00000254810,NM_005324.4;H3F3B,frameshift_variant,p.Arg18ProfsTer96,ENST00000592643,;H3F3B,frameshift_variant,p.Arg18ProfsTer118,ENST00000591890,;H3F3B,frameshift_variant,p.Arg18ProfsTer98,ENST00000587171,;H3F3B,frameshift_variant,p.Arg18ProfsTer80,ENST00000589599,;H3F3B,frameshift_variant,p.Arg18ProfsTer80,ENST00000586607,;H3F3B,frameshift_variant,p.Arg18ProfsTer80,ENST00000587560,;H3F3B,frameshift_variant,p.Arg18ProfsTer80,ENST00000586270,;H3F3B,intron_variant,,ENST00000593254,;H3F3B,non_coding_transcript_exon_variant,,ENST00000586518,;H3F3B,non_coding_transcript_exon_variant,,ENST00000589949,;H3F3B,non_coding_transcript_exon_variant,,ENST00000589417,;H3F3B,downstream_gene_variant,,ENST00000591893,;	G	ENST00000254810	Transcript	frameshift_variant	185-186/2705	52-53/411	18/136	R/PX	cgc/cCgc	rs779064600	1		-1	H3F3B	HGNC	HGNC:4765	protein_coding	YES	CCDS11729.1	ENSP00000254810	P84243	B2R4P9	UPI00000007B0	NM_005324.4			2/4		Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00622,PROSITE_patterns:PS00322,hmmpanther:PTHR11426,Superfamily_domains:SSF47113																	HIGH	1	insertion	1			1										PASS		.	.												G	7	5	108	75779122	75779122	-	G	1	0	1	1	0	0	0	0	0	6816	768	27	0		0	H3F3B	17	75779122	Frame_Shift_Ins	INS	-	C3N-02729_TP	33886840	75779122	7478319	31	32031											
C19orf33	0	.	GRCh38	chr19	38304950	38304950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggagaagggcaagaagaagGaggctccccactgaagggcc	14	2	16	9	0	0	4	0	1	0	3	1	6	1	5	3	5	0	2	3	5	5	0	rs199853866		C3N-02729_TP	C3N-02729_NB	G	G																c.307G>A	p.Glu103Lys	p.E103K	ENST00000301246	4/4	416	391	25	231	227	4	varscan-mutect	C19orf33,missense_variant,p.Glu103Lys,ENST00000301246,NM_033520.1;C19orf33,3_prime_UTR_variant,,ENST00000588605,NM_001317801.1;YIF1B,downstream_gene_variant,,ENST00000392124,;YIF1B,downstream_gene_variant,,ENST00000337679,NM_001145463.1;YIF1B,downstream_gene_variant,,ENST00000339413,NM_001039672.2,NM_001039673.2;YIF1B,downstream_gene_variant,,ENST00000592694,;YIF1B,downstream_gene_variant,,ENST00000591755,;YIF1B,downstream_gene_variant,,ENST00000329420,NM_001039671.2,NM_001145461.1;YIF1B,downstream_gene_variant,,ENST00000591784,NM_001145462.1;YIF1B,downstream_gene_variant,,ENST00000592246,;YIF1B,downstream_gene_variant,,ENST00000589247,;YIF1B,downstream_gene_variant,,ENST00000588002,;CTB-102L5.4,downstream_gene_variant,,ENST00000591889,;CTB-102L5.4,downstream_gene_variant,,ENST00000587519,;YIF1B,downstream_gene_variant,,ENST00000587039,;YIF1B,downstream_gene_variant,,ENST00000587361,;C19orf33,non_coding_transcript_exon_variant,,ENST00000591852,;C19orf33,non_coding_transcript_exon_variant,,ENST00000589986,;YIF1B,downstream_gene_variant,,ENST00000589644,;YIF1B,downstream_gene_variant,,ENST00000585563,;YIF1B,downstream_gene_variant,,ENST00000586319,;YIF1B,downstream_gene_variant,,ENST00000589151,;	A	ENST00000301246	Transcript	missense_variant	408/467	307/321	103/106	E/K	Gag/Aag	rs199853866	1		1	C19orf33	HGNC	HGNC:16668	protein_coding	YES	CCDS12511.1	ENSP00000301246	Q9GZP8		UPI000006DC1A	NM_033520.1	deleterious_low_confidence(0)		4/4		Low_complexity_(Seg):seg,hmmpanther:PTHR21830,hmmpanther:PTHR21830:SF0,Pfam_domain:PF15761																	MODERATE	1	SNV	1			1										PASS		rs199853866	.												A	3	1	108	38304950	38304950	G	A	1	0	0	0	0	1	0	0	0	1907	1175	41	3		3	C19orf33	19	38304950	Missense_Mutation	SNP	G	C3N-02729_TP		38304950	20312666	32	32032											
TOMM40	0	.	GRCh38	chr19	44903152	44903152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagtttcagtgtggctttGgcctcaccatcggctgagcc	7	11	11	12	1	2	1	2	1	0	0	3	1	2	1	3	3	1	3	3	3	1	2	novel		C3N-02729_TP	C3N-02729_NB	G	G																c.1069G>A	p.Gly357Ser	p.G357S	ENST00000426677	9/9	282	215	67	130	130	0	strelka-varscan-mutect	TOMM40,missense_variant,p.Gly357Ser,ENST00000426677,NM_001128917.1;TOMM40,missense_variant,p.Gly357Ser,ENST00000405636,NM_001128916.1;TOMM40,missense_variant,p.Gly357Ser,ENST00000252487,NM_006114.2;TOMM40,3_prime_UTR_variant,,ENST00000592434,;APOE,upstream_gene_variant,,ENST00000252486,NM_000041.3,NM_001302691.1,NM_001302689.1,NM_001302690.1;APOE,upstream_gene_variant,,ENST00000425718,;APOE,upstream_gene_variant,,ENST00000434152,NM_001302688.1;APOE,upstream_gene_variant,,ENST00000446996,;APOE,upstream_gene_variant,,ENST00000485628,;TOMM40,downstream_gene_variant,,ENST00000592041,;	A	ENST00000426677	Transcript	missense_variant	1249/1725	1069/1086	357/361	G/S	Ggc/Agc		1		1	TOMM40	HGNC	HGNC:18001	protein_coding	YES	CCDS12646.1	ENSP00000410339	O96008	A0A024R0P9	UPI0000130CBB	NM_001128917.1	tolerated(0.11)		9/9		Gene3D:2.40.160.10,hmmpanther:PTHR10802,hmmpanther:PTHR10802:SF1																	MODERATE	1	SNV	1			1										PASS		.	.												A	3	1	108	44903152	44903152	G	A	1	0	0	0	0	1	0	0	0	16832	1348	47	3		3	TOMM40	19	44903152	Missense_Mutation	SNP	G	C3N-02729_TP	6598202	44903152	13714464	33	32033											
SLC32A1	0	.	GRCh38	chr20	38727718	38727718	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagctggtgatgacgtgcatCctgtacgtggtggtgagtgg	6	11	18	6	2	0	3	0	3	0	0	1	4	1	3	1	4	3	3	1	4	1	1	rs150170740		C3N-02729_TP	C3N-02729_NB	C	C																c.657C>T	p.=	p.I219I	ENST00000217420	2/2	564	372	192	435	434	1	strelka-varscan-mutect	SLC32A1,synonymous_variant,p.=,ENST00000217420,NM_080552.2;	T	ENST00000217420	Transcript	synonymous_variant	920/2574	657/1578	219/525	I	atC/atT	rs150170740	1		1	SLC32A1	HGNC	HGNC:11018	protein_coding	YES	CCDS13307.1	ENSP00000217420	Q9H598		UPI0000043423	NM_080552.2			2/2		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF221,Transmembrane_helices:TMhelix																	LOW	1	SNV	1			1										PASS		rs150170740	.												T	2	4	108	38727718	38727718	C	T	1	0	0	0	0	0	0	0	1	14835	845	30	3		3	SLC32A1	20	38727718	Silent	SNP	C	C3N-02729_TP		38727718	25716449	34	32034											
